hpo_id	hpo_name	ncbi_gene_id	gene_symbol	disease_id
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:184255
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:271700
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:151210
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:183900
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	ORPHA:1856
HP:0003300	Ovoid vertebral bodies	2335	FN1	OMIM:184255
HP:0003300	Ovoid vertebral bodies	2335	FN1	ORPHA:93315
HP:0003300	Ovoid vertebral bodies	126792	B3GALT6	ORPHA:536467
HP:0003300	Ovoid vertebral bodies	126792	B3GALT6	OMIM:271640
HP:0003300	Ovoid vertebral bodies	4882	NPR2	OMIM:602875
HP:0003300	Ovoid vertebral bodies	4882	NPR2	ORPHA:40
HP:0003300	Ovoid vertebral bodies	10940	POP1	OMIM:617396
HP:0003300	Ovoid vertebral bodies	3549	IHH	ORPHA:63446
HP:0003300	Ovoid vertebral bodies	3549	IHH	OMIM:607778
HP:0003300	Ovoid vertebral bodies	4052	LTBP1	OMIM:619451
HP:0003300	Ovoid vertebral bodies	2200	FBN1	OMIM:614185
HP:0003300	Ovoid vertebral bodies	2200	FBN1	ORPHA:969
HP:0003300	Ovoid vertebral bodies	2200	FBN1	OMIM:102370
HP:0003300	Ovoid vertebral bodies	2588	GALNS	OMIM:253000
HP:0003300	Ovoid vertebral bodies	4054	LTBP3	ORPHA:969
HP:0003300	Ovoid vertebral bodies	411	ARSB	OMIM:253200
HP:0003300	Ovoid vertebral bodies	10060	ABCC9	OMIM:239850
HP:0003300	Ovoid vertebral bodies	10060	ABCC9	ORPHA:1517
HP:0003300	Ovoid vertebral bodies	4148	MATN3	OMIM:608728
HP:0003300	Ovoid vertebral bodies	3977	LIFR	OMIM:601559
HP:0003300	Ovoid vertebral bodies	5130	PCYT1A	ORPHA:85167
HP:0003300	Ovoid vertebral bodies	5130	PCYT1A	OMIM:608940
HP:0003300	Ovoid vertebral bodies	51119	SBDS	OMIM:260400
HP:0003300	Ovoid vertebral bodies	134218	DNAJC21	OMIM:260400
HP:0003300	Ovoid vertebral bodies	6729	SRP54	OMIM:260400
HP:0003300	Ovoid vertebral bodies	89910	UBE3B	OMIM:244450
HP:0003300	Ovoid vertebral bodies	1311	COMP	OMIM:132400
HP:0003300	Ovoid vertebral bodies	2720	GLB1	OMIM:253010
HP:0003300	Ovoid vertebral bodies	50485	SMARCAL1	ORPHA:1830
HP:0003300	Ovoid vertebral bodies	50485	SMARCAL1	OMIM:242900
HP:0003300	Ovoid vertebral bodies	3930	LBR	OMIM:618019
HP:0003300	Ovoid vertebral bodies	23169	SLC35D1	OMIM:269250
HP:0003300	Ovoid vertebral bodies	3764	KCNJ8	ORPHA:1517
HP:0003300	Ovoid vertebral bodies	79158	GNPTAB	OMIM:252500
HP:0003300	Ovoid vertebral bodies	6448	SGSH	OMIM:252900
HP:0003300	Ovoid vertebral bodies	138050	HGSNAT	OMIM:252930
HP:0003300	Ovoid vertebral bodies	4669	NAGLU	OMIM:252920
HP:0003300	Ovoid vertebral bodies	2799	GNS	OMIM:252940
HP:0003300	Ovoid vertebral bodies	6913	TBX15	OMIM:260660
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:271700
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:609162
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:604864
HP:0003301	Irregular vertebral endplates	1300	COL10A1	ORPHA:174
HP:0003301	Irregular vertebral endplates	1300	COL10A1	OMIM:156500
HP:0003301	Irregular vertebral endplates	3835	KIF22	OMIM:603546
HP:0003301	Irregular vertebral endplates	26137	ZBTB20	ORPHA:3042
HP:0003301	Irregular vertebral endplates	26137	ZBTB20	OMIM:259050
HP:0003301	Irregular vertebral endplates	54	ACP5	OMIM:607944
HP:0003301	Irregular vertebral endplates	84068	SLC10A7	OMIM:618363
HP:0003301	Irregular vertebral endplates	9469	CHST3	OMIM:143095
HP:0003301	Irregular vertebral endplates	10312	TCIRG1	ORPHA:1782
HP:0003301	Irregular vertebral endplates	55315	SLC29A3	ORPHA:1782
HP:0003301	Irregular vertebral endplates	8792	TNFRSF11A	ORPHA:1782
HP:0003301	Irregular vertebral endplates	54187	NANS	OMIM:610442
HP:0003301	Irregular vertebral endplates	92344	GORAB	OMIM:231070
HP:0003301	Irregular vertebral endplates	9060	PAPSS2	OMIM:612847
HP:0003301	Irregular vertebral endplates	25839	COG4	OMIM:618150
HP:0003301	Irregular vertebral endplates	8443	GNPAT	OMIM:222765
HP:0003301	Irregular vertebral endplates	9451	EIF2AK3	OMIM:226980
HP:0003301	Irregular vertebral endplates	100151683	RNU4ATAC	OMIM:616651
HP:0003301	Irregular vertebral endplates	23233	EXOC6B	OMIM:618395
HP:0003301	Irregular vertebral endplates	1311	COMP	OMIM:132400
HP:0003301	Irregular vertebral endplates	91252	SLC39A13	OMIM:612350
HP:0003301	Irregular vertebral endplates	5144	PDE4D	ORPHA:439822
HP:0003301	Irregular vertebral endplates	8838	CCN6	ORPHA:1159
HP:0003301	Irregular vertebral endplates	1297	COL9A1	OMIM:614135
HP:0003301	Irregular vertebral endplates	1297	COL9A1	ORPHA:250984
HP:0003301	Irregular vertebral endplates	1301	COL11A1	ORPHA:250984
HP:0003301	Irregular vertebral endplates	1298	COL9A2	ORPHA:250984
HP:0003301	Irregular vertebral endplates	1299	COL9A3	ORPHA:250984
HP:0003301	Irregular vertebral endplates	84695	LOXL3	ORPHA:250984
HP:0003301	Irregular vertebral endplates	3417	IDH1	ORPHA:99646
HP:0003301	Irregular vertebral endplates	126792	B3GALT6	OMIM:271640
HP:0003301	Irregular vertebral endplates	6399	TRAPPC2	ORPHA:93284
HP:0003301	Irregular vertebral endplates	6399	TRAPPC2	OMIM:313400
HP:0003301	Irregular vertebral endplates	4322	MMP13	OMIM:602111
HP:0003301	Irregular vertebral endplates	11128	POLR3A	ORPHA:3455
HP:0003302	Spondylolisthesis	4088	SMAD3	ORPHA:284984
HP:0003302	Spondylolisthesis	4088	SMAD3	OMIM:613795
HP:0003302	Spondylolisthesis	1513	CTSK	ORPHA:763
HP:0003302	Spondylolisthesis	1513	CTSK	OMIM:265800
HP:0003302	Spondylolisthesis	4621	MYH3	OMIM:178110
HP:0003302	Spondylolisthesis	284058	KANSL1	ORPHA:363965
HP:0003302	Spondylolisthesis	284058	KANSL1	ORPHA:363958
HP:0003302	Spondylolisthesis	284058	KANSL1	OMIM:610443
HP:0003302	Spondylolisthesis	860	RUNX2	OMIM:119600
HP:0003302	Spondylolisthesis	8106	PABPN1	ORPHA:270
HP:0003302	Spondylolisthesis	2200	FBN1	OMIM:154700
HP:0003302	Spondylolisthesis	4125	MAN2B1	OMIM:248500
HP:0003302	Spondylolisthesis	7043	TGFB3	OMIM:615582
HP:0003302	Spondylolisthesis	84627	ZNF469	OMIM:229200
HP:0003302	Spondylolisthesis	650	BMP2	OMIM:617877
HP:0003302	Spondylolisthesis	4010	LMX1B	ORPHA:2614
HP:0003302	Spondylolisthesis	175	AGA	OMIM:208400
HP:0003302	Spondylolisthesis	7048	TGFBR2	OMIM:610168
HP:0003302	Spondylolisthesis	7042	TGFB2	OMIM:614816
HP:0003302	Spondylolisthesis	3425	IDUA	OMIM:607016
HP:0003302	Spondylolisthesis	1280	COL2A1	OMIM:108300
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:276280
HP:0002650	Scoliosis	5290	PIK3CA	OMIM:612918
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:201
HP:0002650	Scoliosis	5290	PIK3CA	OMIM:615108
HP:0002650	Scoliosis	26235	FBXL4	OMIM:615471
HP:0002650	Scoliosis	6910	TBX5	ORPHA:392
HP:0002650	Scoliosis	51399	TRAPPC4	OMIM:618741
HP:0002650	Scoliosis	8216	LZTR1	OMIM:616564
HP:0002650	Scoliosis	8216	LZTR1	ORPHA:648
HP:0002650	Scoliosis	134701	RIPPLY2	OMIM:616566
HP:0002650	Scoliosis	134701	RIPPLY2	ORPHA:2311
HP:0002650	Scoliosis	4897	NRCAM	OMIM:619833
HP:0002650	Scoliosis	1134	CHRNA1	OMIM:608930
HP:0002650	Scoliosis	1134	CHRNA1	ORPHA:98913
HP:0002650	Scoliosis	1131	CHRM3	ORPHA:2970
HP:0002650	Scoliosis	10159	ATP6AP2	ORPHA:93952
HP:0002650	Scoliosis	55209	SETD5	ORPHA:404440
HP:0002650	Scoliosis	55209	SETD5	OMIM:615761
HP:0002650	Scoliosis	6687	SPG7	ORPHA:99013
HP:0002650	Scoliosis	6687	SPG7	OMIM:607259
HP:0002650	Scoliosis	5631	PRPS1	ORPHA:99014
HP:0002650	Scoliosis	9578	CDC42BPB	OMIM:619841
HP:0002650	Scoliosis	80816	ASXL3	OMIM:615485
HP:0002650	Scoliosis	80816	ASXL3	ORPHA:352577
HP:0002650	Scoliosis	23322	RPGRIP1L	ORPHA:220497
HP:0002650	Scoliosis	23322	RPGRIP1L	ORPHA:1454
HP:0002650	Scoliosis	23322	RPGRIP1L	OMIM:611560
HP:0002650	Scoliosis	4867	NPHP1	ORPHA:220497
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:220497
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:2318
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:475
HP:0002650	Scoliosis	27245	AHDC1	ORPHA:412069
HP:0002650	Scoliosis	166378	AFG2A	OMIM:616577
HP:0002650	Scoliosis	7532	YWHAG	OMIM:617665
HP:0002650	Scoliosis	84466	MEGF10	OMIM:614399
HP:0002650	Scoliosis	54806	AHI1	ORPHA:220493
HP:0002650	Scoliosis	54806	AHI1	ORPHA:475
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:220493
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:1454
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:475
HP:0002650	Scoliosis	153241	CEP120	ORPHA:220493
HP:0002650	Scoliosis	153241	CEP120	ORPHA:475
HP:0002650	Scoliosis	54903	MKS1	ORPHA:220493
HP:0002650	Scoliosis	54903	MKS1	ORPHA:475
HP:0002650	Scoliosis	95681	CEP41	ORPHA:220493
HP:0002650	Scoliosis	95681	CEP41	ORPHA:475
HP:0002650	Scoliosis	84197	POMK	OMIM:615249
HP:0002650	Scoliosis	2132	EXT2	ORPHA:466926
HP:0002650	Scoliosis	2132	EXT2	OMIM:616682
HP:0002650	Scoliosis	51112	TRAPPC12	OMIM:617669
HP:0002650	Scoliosis	51112	TRAPPC12	ORPHA:500144
HP:0002650	Scoliosis	55768	NGLY1	ORPHA:404454
HP:0002650	Scoliosis	55768	NGLY1	OMIM:615273
HP:0002650	Scoliosis	55636	CHD7	ORPHA:138
HP:0002650	Scoliosis	55636	CHD7	OMIM:214800
HP:0002650	Scoliosis	9723	SEMA3E	ORPHA:138
HP:0002650	Scoliosis	4625	MYH7	OMIM:160500
HP:0002650	Scoliosis	4625	MYH7	ORPHA:324604
HP:0002650	Scoliosis	4625	MYH7	OMIM:255160
HP:0002650	Scoliosis	4625	MYH7	ORPHA:59135
HP:0002650	Scoliosis	90	ACVR1	OMIM:135100
HP:0002650	Scoliosis	6023	RMRP	ORPHA:175
HP:0002650	Scoliosis	6023	RMRP	OMIM:250250
HP:0002650	Scoliosis	1513	CTSK	OMIM:265800
HP:0002650	Scoliosis	1513	CTSK	ORPHA:763
HP:0002650	Scoliosis	55154	MSTO1	OMIM:617675
HP:0002650	Scoliosis	55154	MSTO1	ORPHA:502423
HP:0002650	Scoliosis	54453	RIN2	OMIM:613075
HP:0002650	Scoliosis	54453	RIN2	ORPHA:217335
HP:0002650	Scoliosis	79029	AFG2B	OMIM:619616
HP:0002650	Scoliosis	3064	HTT	OMIM:617435
HP:0002650	Scoliosis	81857	MED25	ORPHA:464738
HP:0002650	Scoliosis	81857	MED25	OMIM:616449
HP:0002650	Scoliosis	3572	IL6ST	OMIM:618523
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619751
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619752
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619750
HP:0002650	Scoliosis	4604	MYBPC1	OMIM:618524
HP:0002650	Scoliosis	4620	MYH2	OMIM:605637
HP:0002650	Scoliosis	10484	SEC23A	OMIM:607812
HP:0002650	Scoliosis	10484	SEC23A	ORPHA:50814
HP:0002650	Scoliosis	5159	PDGFRB	OMIM:616592
HP:0002650	Scoliosis	5159	PDGFRB	OMIM:601812
HP:0002650	Scoliosis	5528	PPP2R5D	OMIM:616355
HP:0002650	Scoliosis	5528	PPP2R5D	ORPHA:457279
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93926
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93924
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93925
HP:0002650	Scoliosis	28514	DLL1	ORPHA:220386
HP:0002650	Scoliosis	28514	DLL1	ORPHA:280200
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93926
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93924
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93925
HP:0002650	Scoliosis	2253	FGF8	ORPHA:220386
HP:0002650	Scoliosis	2253	FGF8	ORPHA:280200
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93926
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93924
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93925
HP:0002650	Scoliosis	6496	SIX3	ORPHA:220386
HP:0002650	Scoliosis	6496	SIX3	OMIM:157170
HP:0002650	Scoliosis	6496	SIX3	ORPHA:280200
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93926
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93924
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93925
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:220386
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:280200
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93926
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93924
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93925
HP:0002650	Scoliosis	4838	NODAL	ORPHA:220386
HP:0002650	Scoliosis	4838	NODAL	ORPHA:280200
HP:0002650	Scoliosis	6469	SHH	ORPHA:93926
HP:0002650	Scoliosis	6469	SHH	ORPHA:93924
HP:0002650	Scoliosis	6469	SHH	ORPHA:93925
HP:0002650	Scoliosis	6469	SHH	ORPHA:220386
HP:0002650	Scoliosis	6469	SHH	ORPHA:280200
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93926
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93924
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93925
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:220386
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:280200
HP:0002650	Scoliosis	6491	STIL	ORPHA:93926
HP:0002650	Scoliosis	6491	STIL	ORPHA:93924
HP:0002650	Scoliosis	6491	STIL	ORPHA:93925
HP:0002650	Scoliosis	6491	STIL	ORPHA:220386
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93926
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93924
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93925
HP:0002650	Scoliosis	2619	GAS1	ORPHA:220386
HP:0002650	Scoliosis	2619	GAS1	ORPHA:280200
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93926
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93924
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93925
HP:0002650	Scoliosis	84976	DISP1	ORPHA:220386
HP:0002650	Scoliosis	84976	DISP1	ORPHA:280200
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93926
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93924
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93925
HP:0002650	Scoliosis	2736	GLI2	ORPHA:220386
HP:0002650	Scoliosis	2736	GLI2	ORPHA:280200
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93926
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93924
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93925
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:220386
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:280200
HP:0002650	Scoliosis	50937	CDON	ORPHA:93926
HP:0002650	Scoliosis	50937	CDON	ORPHA:93924
HP:0002650	Scoliosis	50937	CDON	ORPHA:93925
HP:0002650	Scoliosis	50937	CDON	ORPHA:220386
HP:0002650	Scoliosis	50937	CDON	ORPHA:280200
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:93924
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:220386
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:280200
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:2645
HP:0002650	Scoliosis	23007	PLCH1	ORPHA:93925
HP:0002650	Scoliosis	10735	STAG2	ORPHA:93925
HP:0002650	Scoliosis	10735	STAG2	OMIM:301022
HP:0002650	Scoliosis	10735	STAG2	ORPHA:220386
HP:0002650	Scoliosis	6905	TBCE	OMIM:617207
HP:0002650	Scoliosis	6905	TBCE	ORPHA:496756
HP:0002650	Scoliosis	4747	NEFL	ORPHA:101085
HP:0002650	Scoliosis	4747	NEFL	OMIM:607684
HP:0002650	Scoliosis	81794	ADAMTS10	OMIM:277600
HP:0002650	Scoliosis	6445	SGCG	ORPHA:353
HP:0002650	Scoliosis	6445	SGCG	OMIM:253700
HP:0002650	Scoliosis	79659	DYNC2H1	OMIM:613091
HP:0002650	Scoliosis	5518	PPP2R1A	OMIM:616362
HP:0002650	Scoliosis	5518	PPP2R1A	ORPHA:457284
HP:0002650	Scoliosis	5034	P4HB	OMIM:112240
HP:0002650	Scoliosis	5034	P4HB	ORPHA:2050
HP:0002650	Scoliosis	51633	OTUD6B	OMIM:617452
HP:0002650	Scoliosis	51633	OTUD6B	ORPHA:505237
HP:0002650	Scoliosis	57167	SALL4	OMIM:147750
HP:0002650	Scoliosis	57167	SALL4	ORPHA:2307
HP:0002650	Scoliosis	57167	SALL4	OMIM:607323
HP:0002650	Scoliosis	3098	HK1	OMIM:618547
HP:0002650	Scoliosis	3098	HK1	OMIM:605285
HP:0002650	Scoliosis	3098	HK1	ORPHA:99953
HP:0002650	Scoliosis	9091	PIGQ	OMIM:618548
HP:0002650	Scoliosis	5728	PTEN	ORPHA:109
HP:0002650	Scoliosis	5728	PTEN	ORPHA:744
HP:0002650	Scoliosis	5728	PTEN	ORPHA:201
HP:0002650	Scoliosis	5728	PTEN	OMIM:158350
HP:0002650	Scoliosis	5590	PRKCZ	ORPHA:1606
HP:0002650	Scoliosis	2563	GABRD	ORPHA:1606
HP:0002650	Scoliosis	23013	SPEN	ORPHA:1606
HP:0002650	Scoliosis	23013	SPEN	OMIM:619312
HP:0002650	Scoliosis	8510	MMP23B	ORPHA:1606
HP:0002650	Scoliosis	7798	LUZP1	ORPHA:1606
HP:0002650	Scoliosis	6497	SKI	ORPHA:1606
HP:0002650	Scoliosis	6497	SKI	ORPHA:2462
HP:0002650	Scoliosis	6497	SKI	OMIM:182212
HP:0002650	Scoliosis	10630	PDPN	ORPHA:1606
HP:0002650	Scoliosis	10277	UBE4B	ORPHA:1606
HP:0002650	Scoliosis	8514	KCNAB2	ORPHA:1606
HP:0002650	Scoliosis	473	RERE	ORPHA:1606
HP:0002650	Scoliosis	473	RERE	ORPHA:494344
HP:0002650	Scoliosis	473	RERE	OMIM:616975
HP:0002650	Scoliosis	63976	PRDM16	ORPHA:1606
HP:0002650	Scoliosis	54897	CASZ1	ORPHA:1606
HP:0002650	Scoliosis	2705	GJB1	ORPHA:101075
HP:0002650	Scoliosis	2705	GJB1	ORPHA:1175
HP:0002650	Scoliosis	1859	DYRK1A	ORPHA:464311
HP:0002650	Scoliosis	1859	DYRK1A	ORPHA:268261
HP:0002650	Scoliosis	1311	COMP	OMIM:177170
HP:0002650	Scoliosis	1311	COMP	ORPHA:750
HP:0002650	Scoliosis	2990	GUSB	ORPHA:584
HP:0002650	Scoliosis	2990	GUSB	OMIM:253220
HP:0002650	Scoliosis	79718	TBL1XR1	OMIM:602342
HP:0002650	Scoliosis	79718	TBL1XR1	ORPHA:487825
HP:0002650	Scoliosis	55210	ATAD3A	ORPHA:496790
HP:0002650	Scoliosis	55210	ATAD3A	OMIM:617183
HP:0002650	Scoliosis	5605	MAP2K2	OMIM:615280
HP:0002650	Scoliosis	5605	MAP2K2	ORPHA:1340
HP:0002650	Scoliosis	715	C1R	OMIM:130080
HP:0002650	Scoliosis	6305	SBF1	OMIM:615284
HP:0002650	Scoliosis	8818	DPM2	OMIM:615042
HP:0002650	Scoliosis	8818	DPM2	ORPHA:329178
HP:0002650	Scoliosis	83479	DDX59	ORPHA:2919
HP:0002650	Scoliosis	83479	DDX59	OMIM:174300
HP:0002650	Scoliosis	51339	DACT1	OMIM:617466
HP:0002650	Scoliosis	1742	DLG4	OMIM:618793
HP:0002650	Scoliosis	9772	TMEM94	OMIM:618316
HP:0002650	Scoliosis	79971	WLS	OMIM:619648
HP:0002650	Scoliosis	124583	CANT1	OMIM:251450
HP:0002650	Scoliosis	124583	CANT1	ORPHA:1425
HP:0002650	Scoliosis	8643	PTCH2	ORPHA:377
HP:0002650	Scoliosis	51684	SUFU	ORPHA:377
HP:0002650	Scoliosis	51684	SUFU	ORPHA:280200
HP:0002650	Scoliosis	51684	SUFU	ORPHA:475
HP:0002650	Scoliosis	23299	BICD2	OMIM:615290
HP:0002650	Scoliosis	23299	BICD2	OMIM:618291
HP:0002650	Scoliosis	2239	GPC4	ORPHA:373
HP:0002650	Scoliosis	2239	GPC4	OMIM:312870
HP:0002650	Scoliosis	2719	GPC3	ORPHA:373
HP:0002650	Scoliosis	2719	GPC3	OMIM:312870
HP:0002650	Scoliosis	5354	PLP1	OMIM:312080
HP:0002650	Scoliosis	23483	TGDS	OMIM:616145
HP:0002650	Scoliosis	23483	TGDS	ORPHA:1388
HP:0002650	Scoliosis	2395	FXN	OMIM:229300
HP:0002650	Scoliosis	2395	FXN	ORPHA:95
HP:0002650	Scoliosis	57679	ALS2	OMIM:205100
HP:0002650	Scoliosis	57679	ALS2	OMIM:607225
HP:0002650	Scoliosis	57679	ALS2	ORPHA:300605
HP:0002650	Scoliosis	84168	ANTXR1	OMIM:230740
HP:0002650	Scoliosis	2720	GLB1	OMIM:230500
HP:0002650	Scoliosis	2720	GLB1	OMIM:230600
HP:0002650	Scoliosis	2720	GLB1	OMIM:230650
HP:0002650	Scoliosis	2720	GLB1	OMIM:253010
HP:0002650	Scoliosis	4087	SMAD2	OMIM:619656
HP:0002650	Scoliosis	4087	SMAD2	ORPHA:91387
HP:0002650	Scoliosis	6885	MAP3K7	ORPHA:1826
HP:0002650	Scoliosis	6885	MAP3K7	OMIM:157800
HP:0002650	Scoliosis	6885	MAP3K7	OMIM:617137
HP:0002650	Scoliosis	257	ALX3	ORPHA:391474
HP:0002650	Scoliosis	25970	SH2B1	ORPHA:261197
HP:0002650	Scoliosis	1387	CREBBP	OMIM:618332
HP:0002650	Scoliosis	1387	CREBBP	OMIM:180849
HP:0002650	Scoliosis	26160	IFT172	OMIM:616394
HP:0002650	Scoliosis	58497	PRUNE1	OMIM:617481
HP:0002650	Scoliosis	58497	PRUNE1	ORPHA:544469
HP:0002650	Scoliosis	5881	RAC3	OMIM:618577
HP:0002650	Scoliosis	26173	INTS1	OMIM:618571
HP:0002650	Scoliosis	9427	ECEL1	OMIM:615065
HP:0002650	Scoliosis	3508	IGHMBP2	OMIM:616155
HP:0002650	Scoliosis	5888	RAD51	OMIM:617244
HP:0002650	Scoliosis	5888	RAD51	ORPHA:84
HP:0002650	Scoliosis	55151	TMEM38B	OMIM:615066
HP:0002650	Scoliosis	4212	MEIS2	ORPHA:261190
HP:0002650	Scoliosis	2583	B4GALNT1	OMIM:609195
HP:0002650	Scoliosis	2583	B4GALNT1	ORPHA:101006
HP:0002650	Scoliosis	7227	TRPS1	OMIM:190350
HP:0002650	Scoliosis	7227	TRPS1	OMIM:190351
HP:0002650	Scoliosis	7227	TRPS1	ORPHA:77258
HP:0002650	Scoliosis	7046	TGFBR1	OMIM:609192
HP:0002650	Scoliosis	7046	TGFBR1	ORPHA:60030
HP:0002650	Scoliosis	7046	TGFBR1	ORPHA:91387
HP:0002650	Scoliosis	5426	POLE	OMIM:618336
HP:0002650	Scoliosis	5081	PAX7	OMIM:618578
HP:0002650	Scoliosis	389827	MYMK	OMIM:254940
HP:0002650	Scoliosis	389827	MYMK	ORPHA:1358
HP:0002650	Scoliosis	7273	TTN	OMIM:611705
HP:0002650	Scoliosis	7273	TTN	ORPHA:324604
HP:0002650	Scoliosis	2617	GARS1	OMIM:601472
HP:0002650	Scoliosis	2617	GARS1	OMIM:619042
HP:0002650	Scoliosis	7291	TWIST1	ORPHA:794
HP:0002650	Scoliosis	2263	FGFR2	ORPHA:794
HP:0002650	Scoliosis	2263	FGFR2	ORPHA:2363
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:794
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:2363
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:429
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:85164
HP:0002650	Scoliosis	2261	FGFR3	OMIM:610474
HP:0002650	Scoliosis	4088	SMAD3	ORPHA:284984
HP:0002650	Scoliosis	4088	SMAD3	OMIM:613795
HP:0002650	Scoliosis	4088	SMAD3	ORPHA:91387
HP:0002650	Scoliosis	9361	LONP1	OMIM:600373
HP:0002650	Scoliosis	9361	LONP1	ORPHA:1458
HP:0002650	Scoliosis	4921	DDR2	OMIM:271665
HP:0002650	Scoliosis	51574	LARP7	OMIM:615071
HP:0002650	Scoliosis	51574	LARP7	ORPHA:319671
HP:0002650	Scoliosis	65992	DDRGK1	OMIM:602557
HP:0002650	Scoliosis	65992	DDRGK1	ORPHA:93352
HP:0002650	Scoliosis	10059	DNM1L	ORPHA:330050
HP:0002650	Scoliosis	6448	SGSH	OMIM:252900
HP:0002650	Scoliosis	6134	RPL10	OMIM:300998
HP:0002650	Scoliosis	6134	RPL10	ORPHA:459070
HP:0002650	Scoliosis	1499	CTNNB1	OMIM:615075
HP:0002650	Scoliosis	1291	COL6A1	OMIM:254090
HP:0002650	Scoliosis	1291	COL6A1	ORPHA:75840
HP:0002650	Scoliosis	1291	COL6A1	ORPHA:610
HP:0002650	Scoliosis	1292	COL6A2	OMIM:254090
HP:0002650	Scoliosis	1292	COL6A2	ORPHA:75840
HP:0002650	Scoliosis	1292	COL6A2	ORPHA:610
HP:0002650	Scoliosis	1293	COL6A3	OMIM:254090
HP:0002650	Scoliosis	1293	COL6A3	ORPHA:75840
HP:0002650	Scoliosis	1293	COL6A3	ORPHA:610
HP:0002650	Scoliosis	56896	DPYSL5	OMIM:619435
HP:0002650	Scoliosis	23516	SLC39A14	OMIM:617013
HP:0002650	Scoliosis	23516	SLC39A14	ORPHA:521406
HP:0002650	Scoliosis	8573	CASK	OMIM:300749
HP:0002650	Scoliosis	8573	CASK	ORPHA:163937
HP:0002650	Scoliosis	8573	CASK	OMIM:300422
HP:0002650	Scoliosis	79912	PYROXD1	OMIM:617258
HP:0002650	Scoliosis	5428	POLG	OMIM:258450
HP:0002650	Scoliosis	5428	POLG	OMIM:203700
HP:0002650	Scoliosis	4703	NEB	OMIM:256030
HP:0002650	Scoliosis	4703	NEB	ORPHA:171436
HP:0002650	Scoliosis	4703	NEB	ORPHA:171439
HP:0002650	Scoliosis	7681	MKRN3	OMIM:176270
HP:0002650	Scoliosis	3653	IPW	OMIM:176270
HP:0002650	Scoliosis	54551	MAGEL2	OMIM:176270
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:398069
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:98754
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:177904
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:177901
HP:0002650	Scoliosis	54551	MAGEL2	OMIM:615547
HP:0002650	Scoliosis	791114	PWRN1	OMIM:176270
HP:0002650	Scoliosis	100033413	SNORD116-1	OMIM:176270
HP:0002650	Scoliosis	8924	HERC2	OMIM:176270
HP:0002650	Scoliosis	145624	PWAR1	OMIM:176270
HP:0002650	Scoliosis	23742	NPAP1	OMIM:176270
HP:0002650	Scoliosis	338433	SNORD115-1	OMIM:176270
HP:0002650	Scoliosis	6442	SGCA	OMIM:608099
HP:0002650	Scoliosis	128869	PIGU	OMIM:618590
HP:0002650	Scoliosis	4054	LTBP3	OMIM:601216
HP:0002650	Scoliosis	2972	BRF1	ORPHA:444072
HP:0002650	Scoliosis	2972	BRF1	OMIM:616202
HP:0002650	Scoliosis	6492	SIM1	ORPHA:398079
HP:0002650	Scoliosis	112939	NACC1	ORPHA:500545
HP:0002650	Scoliosis	112939	NACC1	OMIM:617393
HP:0002650	Scoliosis	51114	ZDHHC9	ORPHA:776
HP:0002650	Scoliosis	65109	UPF3B	ORPHA:776
HP:0002650	Scoliosis	65109	UPF3B	OMIM:300676
HP:0002650	Scoliosis	9968	MED12	ORPHA:776
HP:0002650	Scoliosis	9968	MED12	OMIM:300895
HP:0002650	Scoliosis	4952	OCRL	ORPHA:534
HP:0002650	Scoliosis	4952	OCRL	OMIM:309000
HP:0002650	Scoliosis	427	ASAH1	OMIM:159950
HP:0002650	Scoliosis	427	ASAH1	ORPHA:2590
HP:0002650	Scoliosis	29925	GMPPB	ORPHA:370968
HP:0002650	Scoliosis	29925	GMPPB	ORPHA:353327
HP:0002650	Scoliosis	29954	POMT2	ORPHA:370968
HP:0002650	Scoliosis	29954	POMT2	OMIM:613150
HP:0002650	Scoliosis	29954	POMT2	OMIM:613156
HP:0002650	Scoliosis	9215	LARGE1	ORPHA:370968
HP:0002650	Scoliosis	7337	UBE3A	ORPHA:98794
HP:0002650	Scoliosis	7337	UBE3A	OMIM:105830
HP:0002650	Scoliosis	4948	OCA2	ORPHA:98794
HP:0002650	Scoliosis	4948	OCA2	ORPHA:98754
HP:0002650	Scoliosis	4948	OCA2	ORPHA:177904
HP:0002650	Scoliosis	4948	OCA2	ORPHA:177901
HP:0002650	Scoliosis	55777	MBD5	OMIM:156200
HP:0002650	Scoliosis	23005	MAPKBP1	OMIM:617271
HP:0002650	Scoliosis	7084	TK2	ORPHA:254875
HP:0002650	Scoliosis	84340	GFM2	ORPHA:565624
HP:0002650	Scoliosis	84340	GFM2	OMIM:618397
HP:0002650	Scoliosis	8888	MCM3AP	OMIM:618124
HP:0002650	Scoliosis	153642	ARSK	OMIM:619698
HP:0002650	Scoliosis	3549	IHH	ORPHA:63446
HP:0002650	Scoliosis	3549	IHH	ORPHA:93388
HP:0002650	Scoliosis	3549	IHH	OMIM:607778
HP:0002650	Scoliosis	6601	SMARCC2	OMIM:618362
HP:0002650	Scoliosis	6601	SMARCC2	ORPHA:1465
HP:0002650	Scoliosis	4052	LTBP1	OMIM:619451
HP:0002650	Scoliosis	3756	KCNH1	OMIM:135500
HP:0002650	Scoliosis	201163	FLCN	OMIM:610883
HP:0002650	Scoliosis	51608	GET4	OMIM:620200
HP:0002650	Scoliosis	1312	COMT	ORPHA:567
HP:0002650	Scoliosis	221037	JMJD1C	ORPHA:567
HP:0002650	Scoliosis	2812	GP1BB	ORPHA:567
HP:0002650	Scoliosis	6239	RREB1	ORPHA:567
HP:0002650	Scoliosis	6899	TBX1	ORPHA:567
HP:0002650	Scoliosis	6899	TBX1	ORPHA:1727
HP:0002650	Scoliosis	6899	TBX1	OMIM:188400
HP:0002650	Scoliosis	7290	HIRA	ORPHA:567
HP:0002650	Scoliosis	9632	SEC24C	ORPHA:567
HP:0002650	Scoliosis	7353	UFD1	ORPHA:567
HP:0002650	Scoliosis	421	ARVCF	ORPHA:567
HP:0002650	Scoliosis	7136	TNNI2	OMIM:601680
HP:0002650	Scoliosis	7136	TNNI2	ORPHA:1147
HP:0002650	Scoliosis	2778	GNAS	ORPHA:562
HP:0002650	Scoliosis	1277	COL1A1	OMIM:130060
HP:0002650	Scoliosis	1277	COL1A1	OMIM:166220
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:1899
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:287
HP:0002650	Scoliosis	1277	COL1A1	OMIM:259420
HP:0002650	Scoliosis	1277	COL1A1	OMIM:619115
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:1310
HP:0002650	Scoliosis	1760	DMPK	ORPHA:589821
HP:0002650	Scoliosis	11342	RNF13	OMIM:618379
HP:0002650	Scoliosis	11342	RNF13	ORPHA:544503
HP:0002650	Scoliosis	80821	DDHD1	ORPHA:101008
HP:0002650	Scoliosis	80821	DDHD1	OMIM:609340
HP:0002650	Scoliosis	3188	HNRNPH2	OMIM:300986
HP:0002650	Scoliosis	6304	SATB1	OMIM:619229
HP:0002650	Scoliosis	64374	SIL1	ORPHA:559
HP:0002650	Scoliosis	64374	SIL1	OMIM:248800
HP:0002650	Scoliosis	51763	INPP5K	ORPHA:559
HP:0002650	Scoliosis	51763	INPP5K	OMIM:617404
HP:0002650	Scoliosis	4927	NUP88	ORPHA:994
HP:0002650	Scoliosis	7846	TUBA1A	ORPHA:994
HP:0002650	Scoliosis	4654	MYOD1	ORPHA:994
HP:0002650	Scoliosis	4593	MUSK	ORPHA:994
HP:0002650	Scoliosis	4593	MUSK	ORPHA:98913
HP:0002650	Scoliosis	5913	RAPSN	ORPHA:994
HP:0002650	Scoliosis	5913	RAPSN	ORPHA:98913
HP:0002650	Scoliosis	285489	DOK7	ORPHA:994
HP:0002650	Scoliosis	285489	DOK7	ORPHA:98913
HP:0002650	Scoliosis	9321	TRIP11	ORPHA:166272
HP:0002650	Scoliosis	9321	TRIP11	OMIM:184260
HP:0002650	Scoliosis	55975	KLHL7	OMIM:617055
HP:0002650	Scoliosis	2290	FOXG1	ORPHA:261144
HP:0002650	Scoliosis	2290	FOXG1	OMIM:613454
HP:0002650	Scoliosis	54809	SAMD9	OMIM:617053
HP:0002650	Scoliosis	10526	IPO8	OMIM:619472
HP:0002650	Scoliosis	10526	IPO8	ORPHA:60030
HP:0002650	Scoliosis	2892	GRIA3	ORPHA:364028
HP:0002650	Scoliosis	64840	PORCN	ORPHA:2092
HP:0002650	Scoliosis	64840	PORCN	OMIM:305600
HP:0002650	Scoliosis	94005	PIGS	OMIM:618143
HP:0002650	Scoliosis	6711	SPTBN1	OMIM:619475
HP:0002650	Scoliosis	80036	TRPM3	OMIM:620224
HP:0002650	Scoliosis	92935	MARS2	ORPHA:314603
HP:0002650	Scoliosis	92935	MARS2	OMIM:611390
HP:0002650	Scoliosis	5894	RAF1	ORPHA:500
HP:0002650	Scoliosis	5894	RAF1	ORPHA:648
HP:0002650	Scoliosis	2317	FLNB	ORPHA:503
HP:0002650	Scoliosis	2317	FLNB	OMIM:272460
HP:0002650	Scoliosis	2317	FLNB	ORPHA:1190
HP:0002650	Scoliosis	2317	FLNB	OMIM:108721
HP:0002650	Scoliosis	2317	FLNB	OMIM:150250
HP:0002650	Scoliosis	11198	SUPT16H	OMIM:619480
HP:0002650	Scoliosis	9829	DNAJC6	ORPHA:391411
HP:0002650	Scoliosis	5420	PODXL	ORPHA:391411
HP:0002650	Scoliosis	8867	SYNJ1	ORPHA:391411
HP:0002650	Scoliosis	2887	GRB10	ORPHA:96182
HP:0002650	Scoliosis	283446	MYO1H	OMIM:619482
HP:0002650	Scoliosis	51360	MBTPS2	OMIM:308205
HP:0002650	Scoliosis	51360	MBTPS2	ORPHA:85284
HP:0002650	Scoliosis	51360	MBTPS2	OMIM:301014
HP:0002650	Scoliosis	1457	CSNK2A1	OMIM:617062
HP:0002650	Scoliosis	7204	TRIO	OMIM:617061
HP:0002650	Scoliosis	7204	TRIO	OMIM:618825
HP:0002650	Scoliosis	7204	TRIO	ORPHA:476126
HP:0002650	Scoliosis	3636	INPPL1	OMIM:258480
HP:0002650	Scoliosis	9325	TRIP4	OMIM:617066
HP:0002650	Scoliosis	9325	TRIP4	ORPHA:486815
HP:0002650	Scoliosis	100147744	RNU7-1	OMIM:619487
HP:0002650	Scoliosis	100147744	RNU7-1	ORPHA:51
HP:0002650	Scoliosis	6872	TAF1	OMIM:300966
HP:0002650	Scoliosis	8567	MADD	OMIM:619004
HP:0002650	Scoliosis	8567	MADD	OMIM:619005
HP:0002650	Scoliosis	8239	USP9X	OMIM:300968
HP:0002650	Scoliosis	8239	USP9X	ORPHA:480880
HP:0002650	Scoliosis	8318	CDC45	OMIM:617063
HP:0002650	Scoliosis	28952	CCDC22	OMIM:300963
HP:0002650	Scoliosis	28952	CCDC22	ORPHA:7
HP:0002650	Scoliosis	4617	MYF5	OMIM:618155
HP:0002650	Scoliosis	1654	DDX3X	OMIM:300958
HP:0002650	Scoliosis	1654	DDX3X	ORPHA:457260
HP:0002650	Scoliosis	8450	CUL4B	ORPHA:85293
HP:0002650	Scoliosis	26278	SACS	OMIM:270550
HP:0002650	Scoliosis	6748	SSR4	ORPHA:370927
HP:0002650	Scoliosis	6748	SSR4	OMIM:300934
HP:0002650	Scoliosis	10084	PQBP1	OMIM:309500
HP:0002650	Scoliosis	50515	CHST11	OMIM:618167
HP:0002650	Scoliosis	2629	GBA1	ORPHA:2072
HP:0002650	Scoliosis	2193	FARSA	OMIM:619013
HP:0002650	Scoliosis	10491	CRTAP	OMIM:610682
HP:0002650	Scoliosis	23133	PHF8	ORPHA:85287
HP:0002650	Scoliosis	284058	KANSL1	OMIM:610443
HP:0002650	Scoliosis	284058	KANSL1	ORPHA:363958
HP:0002650	Scoliosis	284058	KANSL1	ORPHA:363965
HP:0002650	Scoliosis	5831	PYCR1	ORPHA:2078
HP:0002650	Scoliosis	5831	PYCR1	OMIM:612940
HP:0002650	Scoliosis	779	CACNA1S	OMIM:620246
HP:0002650	Scoliosis	203859	ANO5	ORPHA:53697
HP:0002650	Scoliosis	9897	WASHC5	ORPHA:7
HP:0002650	Scoliosis	64802	NMNAT1	OMIM:619260
HP:0002650	Scoliosis	116150	NUS1	OMIM:617082
HP:0002650	Scoliosis	84842	HPDL	OMIM:619026
HP:0002650	Scoliosis	9927	MFN2	OMIM:617087
HP:0002650	Scoliosis	9927	MFN2	OMIM:601152
HP:0002650	Scoliosis	9927	MFN2	OMIM:609260
HP:0002650	Scoliosis	9927	MFN2	ORPHA:99947
HP:0002650	Scoliosis	375056	MIA3	OMIM:619269
HP:0002650	Scoliosis	5167	ENPP1	ORPHA:758
HP:0002650	Scoliosis	368	ABCC6	ORPHA:758
HP:0002650	Scoliosis	368	ABCC6	OMIM:177850
HP:0002650	Scoliosis	7042	TGFB2	OMIM:614816
HP:0002650	Scoliosis	7042	TGFB2	ORPHA:91387
HP:0002650	Scoliosis	8085	KMT2D	OMIM:147920
HP:0002650	Scoliosis	8085	KMT2D	ORPHA:2322
HP:0002650	Scoliosis	7403	KDM6A	OMIM:147920
HP:0002650	Scoliosis	7403	KDM6A	ORPHA:2322
HP:0002650	Scoliosis	23443	SLC35A3	ORPHA:370943
HP:0002650	Scoliosis	23443	SLC35A3	OMIM:615553
HP:0002650	Scoliosis	2643	GCH1	OMIM:128230
HP:0002650	Scoliosis	2643	GCH1	ORPHA:98808
HP:0002650	Scoliosis	1183	CLCN4	OMIM:300114
HP:0002650	Scoliosis	1183	CLCN4	ORPHA:485350
HP:0002650	Scoliosis	80308	FLAD1	OMIM:255100
HP:0002650	Scoliosis	50484	RRM2B	ORPHA:329336
HP:0002650	Scoliosis	246243	RNASEH1	ORPHA:329336
HP:0002650	Scoliosis	7355	SLC35A2	ORPHA:356961
HP:0002650	Scoliosis	81839	VANGL1	ORPHA:3027
HP:0002650	Scoliosis	80199	FUZ	ORPHA:3027
HP:0002650	Scoliosis	64324	NSD1	ORPHA:821
HP:0002650	Scoliosis	64324	NSD1	OMIM:117550
HP:0002650	Scoliosis	64324	NSD1	ORPHA:3447
HP:0002650	Scoliosis	29072	SETD2	ORPHA:821
HP:0002650	Scoliosis	10297	APC2	ORPHA:821
HP:0002650	Scoliosis	10093	ARPC4	OMIM:620141
HP:0002650	Scoliosis	5447	POR	ORPHA:95699
HP:0002650	Scoliosis	5447	POR	OMIM:201750
HP:0002650	Scoliosis	51506	UFC1	OMIM:618076
HP:0002650	Scoliosis	4552	MTRR	ORPHA:2169
HP:0002650	Scoliosis	224	ALDH3A2	ORPHA:816
HP:0002650	Scoliosis	2314	FLII	ORPHA:819
HP:0002650	Scoliosis	23096	IQSEC2	ORPHA:819
HP:0002650	Scoliosis	10743	RAI1	ORPHA:819
HP:0002650	Scoliosis	10743	RAI1	ORPHA:1713
HP:0002650	Scoliosis	10743	RAI1	OMIM:182290
HP:0002650	Scoliosis	10522	DEAF1	ORPHA:819
HP:0002650	Scoliosis	1717	DHCR7	ORPHA:818
HP:0002650	Scoliosis	4758	NEU1	ORPHA:812
HP:0002650	Scoliosis	55780	ERMARD	ORPHA:75857
HP:0002650	Scoliosis	55780	ERMARD	ORPHA:98892
HP:0002650	Scoliosis	10225	CD96	OMIM:211750
HP:0002650	Scoliosis	4038	LRP4	ORPHA:3258
HP:0002650	Scoliosis	4038	LRP4	ORPHA:98913
HP:0002650	Scoliosis	4038	LRP4	OMIM:212780
HP:0002650	Scoliosis	324	APC	ORPHA:3258
HP:0002650	Scoliosis	84992	PIGY	ORPHA:247262
HP:0002650	Scoliosis	84720	PIGO	ORPHA:247262
HP:0002650	Scoliosis	93210	PGAP3	ORPHA:247262
HP:0002650	Scoliosis	284098	PIGW	ORPHA:247262
HP:0002650	Scoliosis	27315	PGAP2	ORPHA:247262
HP:0002650	Scoliosis	27315	PGAP2	OMIM:614207
HP:0002650	Scoliosis	55650	PIGV	ORPHA:247262
HP:0002650	Scoliosis	9487	PIGL	ORPHA:247262
HP:0002650	Scoliosis	4001	LMNB1	OMIM:619179
HP:0002650	Scoliosis	5119	CHMP1A	OMIM:614961
HP:0002650	Scoliosis	23522	KAT6B	OMIM:606170
HP:0002650	Scoliosis	93627	TBCK	OMIM:616900
HP:0002650	Scoliosis	93627	TBCK	ORPHA:488632
HP:0002650	Scoliosis	5238	PGM3	OMIM:615816
HP:0002650	Scoliosis	672	BRCA1	ORPHA:84
HP:0002650	Scoliosis	10459	MAD2L2	ORPHA:84
HP:0002650	Scoliosis	7516	XRCC2	ORPHA:84
HP:0002650	Scoliosis	29089	UBE2T	ORPHA:84
HP:0002650	Scoliosis	675	BRCA2	ORPHA:84
HP:0002650	Scoliosis	55120	FANCL	ORPHA:84
HP:0002650	Scoliosis	2177	FANCD2	ORPHA:84
HP:0002650	Scoliosis	2175	FANCA	ORPHA:84
HP:0002650	Scoliosis	2187	FANCB	ORPHA:84
HP:0002650	Scoliosis	2176	FANCC	ORPHA:84
HP:0002650	Scoliosis	2178	FANCE	ORPHA:84
HP:0002650	Scoliosis	2188	FANCF	ORPHA:84
HP:0002650	Scoliosis	2189	FANCG	ORPHA:84
HP:0002650	Scoliosis	5889	RAD51C	ORPHA:84
HP:0002650	Scoliosis	55159	RFWD3	ORPHA:84
HP:0002650	Scoliosis	83990	BRIP1	ORPHA:84
HP:0002650	Scoliosis	57697	FANCM	ORPHA:84
HP:0002650	Scoliosis	79728	PALB2	ORPHA:84
HP:0002650	Scoliosis	84464	SLX4	ORPHA:84
HP:0002650	Scoliosis	2072	ERCC4	ORPHA:84
HP:0002650	Scoliosis	2072	ERCC4	ORPHA:90321
HP:0002650	Scoliosis	2072	ERCC4	OMIM:610965
HP:0002650	Scoliosis	2072	ERCC4	OMIM:278760
HP:0002650	Scoliosis	55215	FANCI	ORPHA:84
HP:0002650	Scoliosis	823	CAPN1	OMIM:616907
HP:0002650	Scoliosis	823	CAPN1	ORPHA:488594
HP:0002650	Scoliosis	222663	SCUBE3	OMIM:619184
HP:0002650	Scoliosis	7274	TTPA	ORPHA:96
HP:0002650	Scoliosis	57531	HACE1	ORPHA:464282
HP:0002650	Scoliosis	57531	HACE1	OMIM:616756
HP:0002650	Scoliosis	9839	ZEB2	ORPHA:261552
HP:0002650	Scoliosis	9839	ZEB2	ORPHA:261537
HP:0002650	Scoliosis	1641	DCX	ORPHA:2148
HP:0002650	Scoliosis	11160	ERLIN2	OMIM:611225
HP:0002650	Scoliosis	25942	SIN3A	OMIM:613406
HP:0002650	Scoliosis	25942	SIN3A	ORPHA:94065
HP:0002650	Scoliosis	175	AGA	ORPHA:93
HP:0002650	Scoliosis	175	AGA	OMIM:208400
HP:0002650	Scoliosis	53834	FGFRL1	OMIM:194190
HP:0002650	Scoliosis	1487	CTBP1	OMIM:194190
HP:0002650	Scoliosis	1487	CTBP1	ORPHA:280
HP:0002650	Scoliosis	3954	LETM1	OMIM:194190
HP:0002650	Scoliosis	3954	LETM1	ORPHA:280
HP:0002650	Scoliosis	7468	NSD2	OMIM:194190
HP:0002650	Scoliosis	7468	NSD2	ORPHA:280
HP:0002650	Scoliosis	10815	CPLX1	OMIM:194190
HP:0002650	Scoliosis	10815	CPLX1	ORPHA:280
HP:0002650	Scoliosis	113278	SLC52A3	OMIM:211530
HP:0002650	Scoliosis	3425	IDUA	OMIM:607015
HP:0002650	Scoliosis	3425	IDUA	ORPHA:93473
HP:0002650	Scoliosis	3192	HNRNPU	ORPHA:238769
HP:0002650	Scoliosis	9653	HS2ST1	OMIM:619194
HP:0002650	Scoliosis	1798	DPAGT1	ORPHA:86309
HP:0002650	Scoliosis	1798	DPAGT1	OMIM:614750
HP:0002650	Scoliosis	1798	DPAGT1	ORPHA:353327
HP:0002650	Scoliosis	6135	RPL11	OMIM:612562
HP:0002650	Scoliosis	91754	NEK9	ORPHA:64754
HP:0002650	Scoliosis	26053	AUTS2	OMIM:615834
HP:0002650	Scoliosis	26053	AUTS2	ORPHA:352490
HP:0002650	Scoliosis	10056	FARSB	OMIM:613658
HP:0002650	Scoliosis	54499	TMCO1	OMIM:213980
HP:0002650	Scoliosis	54499	TMCO1	ORPHA:1394
HP:0002650	Scoliosis	4094	MAF	ORPHA:1272
HP:0002650	Scoliosis	23261	CAMTA1	OMIM:614756
HP:0002650	Scoliosis	2255	FGF10	ORPHA:2363
HP:0002650	Scoliosis	55906	ZC4H2	ORPHA:3454
HP:0002650	Scoliosis	55906	ZC4H2	OMIM:301041
HP:0002650	Scoliosis	55906	ZC4H2	OMIM:314580
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:98754
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177904
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177901
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177907
HP:0002650	Scoliosis	6638	SNRPN	OMIM:105830
HP:0002650	Scoliosis	4692	NDN	ORPHA:98754
HP:0002650	Scoliosis	4692	NDN	ORPHA:177904
HP:0002650	Scoliosis	4692	NDN	ORPHA:177901
HP:0002650	Scoliosis	3481	IGF2	ORPHA:2128
HP:0002650	Scoliosis	10984	KCNQ1OT1	ORPHA:2128
HP:0002650	Scoliosis	283120	H19	ORPHA:2128
HP:0002650	Scoliosis	2535	FZD2	OMIM:164745
HP:0002650	Scoliosis	2535	FZD2	ORPHA:3107
HP:0002650	Scoliosis	3977	LIFR	ORPHA:3206
HP:0002650	Scoliosis	3977	LIFR	OMIM:601559
HP:0002650	Scoliosis	55325	UFSP2	ORPHA:2114
HP:0002650	Scoliosis	55275	VPS53	OMIM:615851
HP:0002650	Scoliosis	2146	EZH2	OMIM:277590
HP:0002650	Scoliosis	2146	EZH2	ORPHA:3447
HP:0002650	Scoliosis	7048	TGFBR2	OMIM:610168
HP:0002650	Scoliosis	7048	TGFBR2	ORPHA:60030
HP:0002650	Scoliosis	7048	TGFBR2	ORPHA:91387
HP:0002650	Scoliosis	545	ATR	ORPHA:808
HP:0002650	Scoliosis	545	ATR	OMIM:210600
HP:0002650	Scoliosis	1062	CENPE	ORPHA:808
HP:0002650	Scoliosis	5116	PCNT	ORPHA:808
HP:0002650	Scoliosis	5116	PCNT	ORPHA:2637
HP:0002650	Scoliosis	5932	RBBP8	ORPHA:808
HP:0002650	Scoliosis	79902	NUP85	ORPHA:808
HP:0002650	Scoliosis	84126	ATRIP	ORPHA:808
HP:0002650	Scoliosis	55835	CENPJ	ORPHA:808
HP:0002650	Scoliosis	10293	TRAIP	ORPHA:808
HP:0002650	Scoliosis	22995	CEP152	ORPHA:808
HP:0002650	Scoliosis	22995	CEP152	OMIM:613823
HP:0002650	Scoliosis	10733	PLK4	ORPHA:808
HP:0002650	Scoliosis	10733	PLK4	ORPHA:2518
HP:0002650	Scoliosis	5048	PAFAH1B1	ORPHA:95232
HP:0002650	Scoliosis	4882	NPR2	ORPHA:40
HP:0002650	Scoliosis	4882	NPR2	OMIM:615923
HP:0002650	Scoliosis	147372	CCBE1	OMIM:235510
HP:0002650	Scoliosis	80324	PUS1	ORPHA:2598
HP:0002650	Scoliosis	51067	YARS2	ORPHA:2598
HP:0002650	Scoliosis	8726	EED	ORPHA:3447
HP:0002650	Scoliosis	8726	EED	OMIM:617561
HP:0002650	Scoliosis	23512	SUZ12	ORPHA:3447
HP:0002650	Scoliosis	84667	HES7	OMIM:613686
HP:0002650	Scoliosis	84667	HES7	ORPHA:2311
HP:0002650	Scoliosis	9573	GDF3	ORPHA:2345
HP:0002650	Scoliosis	392255	GDF6	ORPHA:2345
HP:0002650	Scoliosis	392255	GDF6	OMIM:118100
HP:0002650	Scoliosis	4222	MEOX1	ORPHA:2345
HP:0002650	Scoliosis	4222	MEOX1	OMIM:214300
HP:0002650	Scoliosis	22907	DHX30	OMIM:617804
HP:0002650	Scoliosis	57165	GJC2	OMIM:613206
HP:0002650	Scoliosis	3798	KIF5A	OMIM:604187
HP:0002650	Scoliosis	3798	KIF5A	ORPHA:100991
HP:0002650	Scoliosis	10535	RNASEH2A	ORPHA:51
HP:0002650	Scoliosis	84153	RNASEH2C	ORPHA:51
HP:0002650	Scoliosis	25939	SAMHD1	ORPHA:51
HP:0002650	Scoliosis	79621	RNASEH2B	ORPHA:51
HP:0002650	Scoliosis	103	ADAR	ORPHA:51
HP:0002650	Scoliosis	11277	TREX1	ORPHA:51
HP:0002650	Scoliosis	134353	LSM11	ORPHA:51
HP:0002650	Scoliosis	64135	IFIH1	ORPHA:51
HP:0002650	Scoliosis	64135	IFIH1	OMIM:182250
HP:0002650	Scoliosis	23592	LEMD3	OMIM:166700
HP:0002650	Scoliosis	23592	LEMD3	ORPHA:94063
HP:0002650	Scoliosis	10075	HUWE1	OMIM:309590
HP:0002650	Scoliosis	8518	ELP1	OMIM:223900
HP:0002650	Scoliosis	8518	ELP1	ORPHA:1764
HP:0002650	Scoliosis	5979	RET	OMIM:162300
HP:0002650	Scoliosis	2245	FGD1	OMIM:305400
HP:0002650	Scoliosis	8243	SMC1A	OMIM:301044
HP:0002650	Scoliosis	8243	SMC1A	ORPHA:220386
HP:0002650	Scoliosis	8243	SMC1A	ORPHA:3095
HP:0002650	Scoliosis	84627	ZNF469	OMIM:229200
HP:0002650	Scoliosis	84627	ZNF469	ORPHA:90354
HP:0002650	Scoliosis	23394	ADNP	OMIM:615873
HP:0002650	Scoliosis	29123	ANKRD11	ORPHA:2332
HP:0002650	Scoliosis	29123	ANKRD11	ORPHA:261250
HP:0002650	Scoliosis	26115	TANC2	OMIM:618906
HP:0002650	Scoliosis	6473	SHOX	OMIM:127300
HP:0002650	Scoliosis	6473	SHOX	ORPHA:314795
HP:0002650	Scoliosis	4010	LMX1B	OMIM:161200
HP:0002650	Scoliosis	4010	LMX1B	ORPHA:2614
HP:0002650	Scoliosis	11235	PDCD10	ORPHA:221061
HP:0002650	Scoliosis	83605	CCM2	ORPHA:221061
HP:0002650	Scoliosis	889	KRIT1	ORPHA:221061
HP:0002650	Scoliosis	4854	NOTCH3	OMIM:130720
HP:0002650	Scoliosis	4854	NOTCH3	ORPHA:2789
HP:0002650	Scoliosis	6652	SORD	OMIM:618912
HP:0002650	Scoliosis	998	CDC42	OMIM:616737
HP:0002650	Scoliosis	998	CDC42	ORPHA:487796
HP:0002650	Scoliosis	23097	CDK19	OMIM:618916
HP:0002650	Scoliosis	2332	FMR1	ORPHA:449291
HP:0002650	Scoliosis	2332	FMR1	OMIM:300624
HP:0002650	Scoliosis	6774	STAT3	ORPHA:2314
HP:0002650	Scoliosis	6774	STAT3	OMIM:147060
HP:0002650	Scoliosis	6597	SMARCA4	ORPHA:1465
HP:0002650	Scoliosis	6597	SMARCA4	OMIM:614609
HP:0002650	Scoliosis	6598	SMARCB1	ORPHA:1465
HP:0002650	Scoliosis	6598	SMARCB1	OMIM:614608
HP:0002650	Scoliosis	6659	SOX4	ORPHA:1465
HP:0002650	Scoliosis	8289	ARID1A	ORPHA:1465
HP:0002650	Scoliosis	5977	DPF2	ORPHA:1465
HP:0002650	Scoliosis	6602	SMARCD1	ORPHA:1465
HP:0002650	Scoliosis	57492	ARID1B	ORPHA:1465
HP:0002650	Scoliosis	57492	ARID1B	OMIM:135900
HP:0002650	Scoliosis	6605	SMARCE1	ORPHA:1465
HP:0002650	Scoliosis	6664	SOX11	ORPHA:1465
HP:0002650	Scoliosis	10616	RBCK1	OMIM:615895
HP:0002650	Scoliosis	3955	LFNG	ORPHA:2311
HP:0002650	Scoliosis	3955	LFNG	OMIM:609813
HP:0002650	Scoliosis	91137	SLC25A46	OMIM:616505
HP:0002650	Scoliosis	9378	NRXN1	OMIM:614325
HP:0002650	Scoliosis	259232	NALCN	OMIM:615419
HP:0002650	Scoliosis	259232	NALCN	OMIM:616266
HP:0002650	Scoliosis	259232	NALCN	ORPHA:2053
HP:0002650	Scoliosis	259232	NALCN	ORPHA:1147
HP:0002650	Scoliosis	259232	NALCN	ORPHA:371364
HP:0002650	Scoliosis	3759	KCNJ2	OMIM:170390
HP:0002650	Scoliosis	3759	KCNJ2	ORPHA:37553
HP:0002650	Scoliosis	157570	ESCO2	ORPHA:2319
HP:0002650	Scoliosis	79583	TMEM231	ORPHA:2318
HP:0002650	Scoliosis	51524	TMEM138	ORPHA:2318
HP:0002650	Scoliosis	23090	ZNF423	ORPHA:2318
HP:0002650	Scoliosis	80184	CEP290	ORPHA:2318
HP:0002650	Scoliosis	51259	TMEM216	ORPHA:2318
HP:0002650	Scoliosis	57545	CC2D2A	ORPHA:2318
HP:0002650	Scoliosis	57545	CC2D2A	ORPHA:1454
HP:0002650	Scoliosis	57545	CC2D2A	OMIM:612285
HP:0002650	Scoliosis	3248	HPGD	ORPHA:2796
HP:0002650	Scoliosis	6578	SLCO2A1	ORPHA:2796
HP:0002650	Scoliosis	5422	POLA1	OMIM:301030
HP:0002650	Scoliosis	6792	CDKL5	ORPHA:505652
HP:0002650	Scoliosis	6792	CDKL5	ORPHA:3095
HP:0002650	Scoliosis	6792	CDKL5	OMIM:300672
HP:0002650	Scoliosis	79576	NKAP	OMIM:301039
HP:0002650	Scoliosis	8985	PLOD3	OMIM:612394
HP:0002650	Scoliosis	25	ABL1	OMIM:617602
HP:0002650	Scoliosis	23152	CIC	OMIM:617600
HP:0002650	Scoliosis	91147	TMEM67	ORPHA:1454
HP:0002650	Scoliosis	91147	TMEM67	ORPHA:475
HP:0002650	Scoliosis	57449	PLEKHG5	OMIM:611067
HP:0002650	Scoliosis	57449	PLEKHG5	OMIM:615376
HP:0002650	Scoliosis	860	RUNX2	ORPHA:1452
HP:0002650	Scoliosis	860	RUNX2	OMIM:119600
HP:0002650	Scoliosis	139285	AMER1	ORPHA:2780
HP:0002650	Scoliosis	139285	AMER1	OMIM:300373
HP:0002650	Scoliosis	2313	FLI1	ORPHA:2308
HP:0002650	Scoliosis	538	ATP7A	ORPHA:198
HP:0002650	Scoliosis	157680	VPS13B	ORPHA:193
HP:0002650	Scoliosis	8270	LAGE3	OMIM:301006
HP:0002650	Scoliosis	2517	FUCA1	OMIM:230000
HP:0002650	Scoliosis	80152	CENPT	OMIM:618702
HP:0002650	Scoliosis	5352	PLOD2	ORPHA:2771
HP:0002650	Scoliosis	8292	COLQ	ORPHA:98915
HP:0002650	Scoliosis	8292	COLQ	OMIM:603034
HP:0002650	Scoliosis	3913	LAMB2	ORPHA:98915
HP:0002650	Scoliosis	6329	SCN4A	ORPHA:98913
HP:0002650	Scoliosis	1140	CHRNB1	ORPHA:98913
HP:0002650	Scoliosis	1144	CHRND	ORPHA:98913
HP:0002650	Scoliosis	1145	CHRNE	ORPHA:98913
HP:0002650	Scoliosis	221264	AK9	ORPHA:98913
HP:0002650	Scoliosis	8913	CACNA1G	ORPHA:458803
HP:0002650	Scoliosis	10020	GNE	OMIM:269921
HP:0002650	Scoliosis	84823	LMNB2	OMIM:616540
HP:0002650	Scoliosis	10274	STAG1	OMIM:617635
HP:0002650	Scoliosis	10274	STAG1	ORPHA:502434
HP:0002650	Scoliosis	6137	RPL13	OMIM:618728
HP:0002650	Scoliosis	5879	RAC1	ORPHA:500159
HP:0002650	Scoliosis	5879	RAC1	OMIM:617751
HP:0002650	Scoliosis	85378	TUBGCP6	ORPHA:2518
HP:0002650	Scoliosis	27229	TUBGCP4	ORPHA:2518
HP:0002650	Scoliosis	1146	CHRNG	ORPHA:2990
HP:0002650	Scoliosis	1146	CHRNG	OMIM:265000
HP:0002650	Scoliosis	25782	RAB3GAP2	ORPHA:2510
HP:0002650	Scoliosis	25782	RAB3GAP2	ORPHA:1387
HP:0002650	Scoliosis	128637	TBC1D20	ORPHA:2510
HP:0002650	Scoliosis	64131	XYLT1	ORPHA:1425
HP:0002650	Scoliosis	55790	CSGALNACT1	ORPHA:1425
HP:0002650	Scoliosis	55790	CSGALNACT1	OMIM:618870
HP:0002650	Scoliosis	71	ACTG1	ORPHA:2995
HP:0002650	Scoliosis	5286	PIK3C2A	ORPHA:557003
HP:0002650	Scoliosis	5286	PIK3C2A	OMIM:618440
HP:0002650	Scoliosis	8139	GAN	OMIM:256850
HP:0002650	Scoliosis	8139	GAN	ORPHA:643
HP:0002650	Scoliosis	5573	PRKAR1A	ORPHA:280651
HP:0002650	Scoliosis	5573	PRKAR1A	OMIM:101800
HP:0002650	Scoliosis	5144	PDE4D	ORPHA:280651
HP:0002650	Scoliosis	87178	PNPT1	OMIM:608703
HP:0002650	Scoliosis	87178	PNPT1	ORPHA:101111
HP:0002650	Scoliosis	57647	DHX37	OMIM:618731
HP:0002650	Scoliosis	1804	DPP6	OMIM:616311
HP:0002650	Scoliosis	7471	WNT1	OMIM:615220
HP:0002650	Scoliosis	64221	ROBO3	ORPHA:2744
HP:0002650	Scoliosis	1630	DCC	ORPHA:2744
HP:0002650	Scoliosis	1630	DCC	OMIM:617542
HP:0002650	Scoliosis	80169	CTC1	OMIM:612199
HP:0002650	Scoliosis	80169	CTC1	ORPHA:1775
HP:0002650	Scoliosis	7545	ZIC1	OMIM:618736
HP:0002650	Scoliosis	7545	ZIC1	OMIM:616602
HP:0002650	Scoliosis	79875	THSD4	OMIM:619825
HP:0002650	Scoliosis	170302	ARX	ORPHA:2508
HP:0002650	Scoliosis	170302	ARX	OMIM:300004
HP:0002650	Scoliosis	5130	PCYT1A	OMIM:608940
HP:0002650	Scoliosis	5130	PCYT1A	ORPHA:85167
HP:0002650	Scoliosis	3762	KCNJ5	ORPHA:37553
HP:0002650	Scoliosis	1281	COL3A1	ORPHA:2500
HP:0002650	Scoliosis	4322	MMP13	ORPHA:2501
HP:0002650	Scoliosis	8367	H4C5	OMIM:619950
HP:0002650	Scoliosis	8294	H4C9	OMIM:619951
HP:0002650	Scoliosis	9853	RUSC2	OMIM:617773
HP:0002650	Scoliosis	22880	MORC2	OMIM:616688
HP:0002650	Scoliosis	22880	MORC2	OMIM:619090
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90324
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90321
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90322
HP:0002650	Scoliosis	1947	EFNB1	ORPHA:1520
HP:0002650	Scoliosis	1947	EFNB1	OMIM:304110
HP:0002650	Scoliosis	51126	NAA20	OMIM:619717
HP:0002650	Scoliosis	60684	TRAPPC11	OMIM:615356
HP:0002650	Scoliosis	60684	TRAPPC11	ORPHA:369847
HP:0002650	Scoliosis	6938	TCF12	OMIM:619718
HP:0002650	Scoliosis	9820	CUL7	ORPHA:2616
HP:0002650	Scoliosis	23363	OBSL1	ORPHA:2616
HP:0002650	Scoliosis	83987	CCDC8	ORPHA:2616
HP:0002650	Scoliosis	755	CFAP410	OMIM:602271
HP:0002650	Scoliosis	4047	LSS	ORPHA:2850
HP:0002650	Scoliosis	197	AHSG	ORPHA:2850
HP:0002650	Scoliosis	3694	ITGB6	ORPHA:2850
HP:0002650	Scoliosis	10060	ABCC9	OMIM:619719
HP:0002650	Scoliosis	3190	HNRNPK	ORPHA:453504
HP:0002650	Scoliosis	3190	HNRNPK	ORPHA:352665
HP:0002650	Scoliosis	3021	H3-3B	OMIM:619721
HP:0002650	Scoliosis	64175	P3H1	OMIM:610915
HP:0002650	Scoliosis	6660	SOX5	ORPHA:313892
HP:0002650	Scoliosis	6660	SOX5	OMIM:616803
HP:0002650	Scoliosis	84572	GNPTG	OMIM:252605
HP:0002650	Scoliosis	9692	PRORP	OMIM:619737
HP:0002650	Scoliosis	55699	IARS2	ORPHA:436174
HP:0002650	Scoliosis	55699	IARS2	OMIM:616007
HP:0002650	Scoliosis	7920	ABHD16A	OMIM:619735
HP:0002650	Scoliosis	8560	DEGS1	OMIM:618404
HP:0002650	Scoliosis	23761	PISD	OMIM:618889
HP:0002650	Scoliosis	85365	ALG2	OMIM:616228
HP:0002650	Scoliosis	85365	ALG2	ORPHA:353327
HP:0002650	Scoliosis	64359	NXN	ORPHA:1507
HP:0002650	Scoliosis	4920	ROR2	ORPHA:1507
HP:0002650	Scoliosis	4920	ROR2	OMIM:268310
HP:0002650	Scoliosis	1289	COL5A1	ORPHA:287
HP:0002650	Scoliosis	1289	COL5A1	OMIM:619329
HP:0002650	Scoliosis	1290	COL5A2	ORPHA:287
HP:0002650	Scoliosis	54872	PIGG	ORPHA:280
HP:0002650	Scoliosis	7469	NELFA	ORPHA:280
HP:0002650	Scoliosis	1656	DDX6	OMIM:618653
HP:0002650	Scoliosis	5424	POLD1	OMIM:615381
HP:0002650	Scoliosis	1501	CTNND2	ORPHA:281
HP:0002650	Scoliosis	9037	SEMA5A	ORPHA:281
HP:0002650	Scoliosis	88	ACTN2	OMIM:618654
HP:0002650	Scoliosis	57178	ZMIZ1	OMIM:618659
HP:0002650	Scoliosis	55012	PPP2R3C	OMIM:618419
HP:0002650	Scoliosis	54840	APTX	OMIM:208920
HP:0002650	Scoliosis	26057	ANKRD17	OMIM:619504
HP:0002650	Scoliosis	284439	SLC25A42	OMIM:618416
HP:0002650	Scoliosis	8642	DCHS1	OMIM:601390
HP:0002650	Scoliosis	3476	IGBP1	ORPHA:52055
HP:0002650	Scoliosis	79600	TCTN1	ORPHA:475
HP:0002650	Scoliosis	79848	CSPP1	ORPHA:475
HP:0002650	Scoliosis	65250	CPLANE1	ORPHA:475
HP:0002650	Scoliosis	200894	ARL13B	ORPHA:475
HP:0002650	Scoliosis	9731	CEP104	ORPHA:475
HP:0002650	Scoliosis	219844	HYLS1	ORPHA:475
HP:0002650	Scoliosis	23247	KATNIP	ORPHA:475
HP:0002650	Scoliosis	219854	TMEM218	ORPHA:475
HP:0002650	Scoliosis	9786	KIAA0586	ORPHA:475
HP:0002650	Scoliosis	79867	TCTN2	ORPHA:475
HP:0002650	Scoliosis	80776	B9D2	ORPHA:475
HP:0002650	Scoliosis	10464	PIBF1	ORPHA:475
HP:0002650	Scoliosis	80210	ARMC9	ORPHA:475
HP:0002650	Scoliosis	23116	TOGARAM1	ORPHA:475
HP:0002650	Scoliosis	25776	CBY1	ORPHA:475
HP:0002650	Scoliosis	27077	B9D1	ORPHA:475
HP:0002650	Scoliosis	403	ARL3	ORPHA:475
HP:0002650	Scoliosis	3981	LIG4	ORPHA:235
HP:0002650	Scoliosis	54888	NSUN2	ORPHA:235
HP:0002650	Scoliosis	56006	SMG9	OMIM:619995
HP:0002650	Scoliosis	85301	COL27A1	OMIM:615155
HP:0002650	Scoliosis	51604	PIGT	OMIM:615398
HP:0002650	Scoliosis	51604	PIGT	ORPHA:369837
HP:0002650	Scoliosis	84504	NKX6-2	ORPHA:527497
HP:0002650	Scoliosis	9453	GGPS1	OMIM:619518
HP:0002650	Scoliosis	54902	TTC19	OMIM:615157
HP:0002650	Scoliosis	57863	CADM3	OMIM:619519
HP:0002650	Scoliosis	8898	MTMR2	OMIM:601382
HP:0002650	Scoliosis	56052	ALG1	ORPHA:79327
HP:0002650	Scoliosis	8314	BAP1	OMIM:619762
HP:0002650	Scoliosis	7750	ZMYM2	OMIM:619522
HP:0002650	Scoliosis	59336	PRDM13	OMIM:619761
HP:0002650	Scoliosis	6942	TCF20	OMIM:618430
HP:0002650	Scoliosis	22	ABCB7	ORPHA:2802
HP:0002650	Scoliosis	2542	SLC37A4	OMIM:619525
HP:0002650	Scoliosis	9562	MINPP1	OMIM:619527
HP:0002650	Scoliosis	6925	TCF4	OMIM:610954
HP:0002650	Scoliosis	6925	TCF4	ORPHA:2896
HP:0002650	Scoliosis	11107	PRDM5	ORPHA:90354
HP:0002650	Scoliosis	23162	MAPK8IP3	OMIM:618443
HP:0002650	Scoliosis	54941	RNF125	OMIM:616260
HP:0002650	Scoliosis	10516	FBLN5	ORPHA:90348
HP:0002650	Scoliosis	10516	FBLN5	OMIM:614434
HP:0002650	Scoliosis	23219	FBXO28	OMIM:619777
HP:0002650	Scoliosis	1107	CHD3	OMIM:618205
HP:0002650	Scoliosis	51062	ATL1	OMIM:182600
HP:0002650	Scoliosis	29929	ALG6	ORPHA:79320
HP:0002650	Scoliosis	79087	ALG12	ORPHA:79324
HP:0002650	Scoliosis	79628	SH3TC2	OMIM:601596
HP:0002650	Scoliosis	79628	SH3TC2	ORPHA:99949
HP:0002650	Scoliosis	6595	SMARCA2	OMIM:601358
HP:0002650	Scoliosis	6595	SMARCA2	ORPHA:3051
HP:0002650	Scoliosis	6595	SMARCA2	OMIM:619293
HP:0002650	Scoliosis	1749	DLX5	OMIM:220600
HP:0002650	Scoliosis	8295	TRRAP	OMIM:618454
HP:0002650	Scoliosis	8621	CDK13	OMIM:617360
HP:0002650	Scoliosis	51117	COQ4	OMIM:616276
HP:0002650	Scoliosis	3763	KCNJ6	OMIM:614098
HP:0002650	Scoliosis	3763	KCNJ6	ORPHA:435628
HP:0002650	Scoliosis	5587	PRKD1	OMIM:617364
HP:0002650	Scoliosis	29968	PSAT1	OMIM:616038
HP:0002650	Scoliosis	6857	SYT1	OMIM:618218
HP:0002650	Scoliosis	6857	SYT1	ORPHA:522077
HP:0002650	Scoliosis	6654	SOS1	OMIM:610733
HP:0002650	Scoliosis	6654	SOS1	ORPHA:648
HP:0002650	Scoliosis	5277	PIGA	OMIM:301072
HP:0002650	Scoliosis	8905	AP1S2	OMIM:304340
HP:0002650	Scoliosis	8905	AP1S2	ORPHA:85335
HP:0002650	Scoliosis	6909	TBX2	OMIM:618223
HP:0002650	Scoliosis	9759	HDAC4	OMIM:619797
HP:0002650	Scoliosis	54892	NCAPG2	OMIM:618460
HP:0002650	Scoliosis	55628	ZNF407	OMIM:619557
HP:0002650	Scoliosis	1756	DMD	OMIM:310200
HP:0002650	Scoliosis	1756	DMD	ORPHA:98896
HP:0002650	Scoliosis	6323	SCN1A	OMIM:619317
HP:0002650	Scoliosis	203547	VMA21	OMIM:310440
HP:0002650	Scoliosis	22854	NTNG1	ORPHA:3095
HP:0002650	Scoliosis	9568	GABBR2	ORPHA:3095
HP:0002650	Scoliosis	9568	GABBR2	OMIM:617904
HP:0002650	Scoliosis	51103	NDUFAF1	OMIM:618234
HP:0002650	Scoliosis	3714	JAG2	OMIM:619566
HP:0002650	Scoliosis	79868	ALG13	OMIM:300884
HP:0002650	Scoliosis	29998	BICRA	OMIM:619325
HP:0002650	Scoliosis	23586	RIGI	OMIM:616298
HP:0002650	Scoliosis	79133	NDUFAF5	OMIM:618238
HP:0002650	Scoliosis	137682	NDUFAF6	OMIM:618239
HP:0002650	Scoliosis	6904	TBCD	ORPHA:496641
HP:0002650	Scoliosis	6904	TBCD	OMIM:617193
HP:0002650	Scoliosis	55967	NDUFA12	OMIM:618244
HP:0002650	Scoliosis	28982	FLVCR1	ORPHA:88628
HP:0002650	Scoliosis	28982	FLVCR1	OMIM:609033
HP:0002650	Scoliosis	56915	EXOSC5	OMIM:619576
HP:0002650	Scoliosis	55572	FOXRED1	OMIM:618241
HP:0002650	Scoliosis	9719	ADAMTSL2	ORPHA:1901
HP:0002650	Scoliosis	9509	ADAMTS2	ORPHA:1901
HP:0002650	Scoliosis	10483	SEC23B	ORPHA:201
HP:0002650	Scoliosis	6390	SDHB	ORPHA:201
HP:0002650	Scoliosis	6392	SDHD	ORPHA:201
HP:0002650	Scoliosis	6391	SDHC	ORPHA:201
HP:0002650	Scoliosis	205717	USF3	ORPHA:201
HP:0002650	Scoliosis	100144748	KLLN	ORPHA:201
HP:0002650	Scoliosis	9496	TBX4	ORPHA:261279
HP:0002650	Scoliosis	8091	HMGA2	ORPHA:94063
HP:0002650	Scoliosis	26175	LYSET	OMIM:619345
HP:0002650	Scoliosis	54681	P4HTM	OMIM:618493
HP:0002650	Scoliosis	1822	ATN1	OMIM:618494
HP:0002650	Scoliosis	4015	LOX	OMIM:617168
HP:0002650	Scoliosis	4015	LOX	ORPHA:91387
HP:0002650	Scoliosis	84668	HYCC1	OMIM:610532
HP:0002650	Scoliosis	9531	BAG3	OMIM:612954
HP:0002650	Scoliosis	8425	LTBP4	ORPHA:98896
HP:0002650	Scoliosis	1300	COL10A1	OMIM:156500
HP:0002650	Scoliosis	6424	SFRP4	OMIM:265900
HP:0002650	Scoliosis	57003	CCDC47	OMIM:618268
HP:0002650	Scoliosis	716	C1S	OMIM:617174
HP:0002650	Scoliosis	29895	MYL11	OMIM:619110
HP:0002650	Scoliosis	5457	POU4F1	OMIM:619352
HP:0002650	Scoliosis	35	ACADS	OMIM:201470
HP:0002650	Scoliosis	145173	B3GLCT	OMIM:261540
HP:0002650	Scoliosis	2033	EP300	OMIM:180849
HP:0002650	Scoliosis	2776	GNAQ	ORPHA:624
HP:0002650	Scoliosis	79809	TTC21B	OMIM:613819
HP:0002650	Scoliosis	2571	GAD1	OMIM:619124
HP:0002650	Scoliosis	90522	YIF1B	OMIM:619125
HP:0002650	Scoliosis	440138	ALG11	ORPHA:280071
HP:0002650	Scoliosis	6472	SHMT2	OMIM:619121
HP:0002650	Scoliosis	57704	GBA2	ORPHA:320391
HP:0002650	Scoliosis	57704	GBA2	OMIM:614409
HP:0002650	Scoliosis	57704	GBA2	ORPHA:352641
HP:0002650	Scoliosis	5080	PAX6	ORPHA:893
HP:0002650	Scoliosis	627	BDNF	ORPHA:893
HP:0002650	Scoliosis	7490	WT1	ORPHA:893
HP:0002650	Scoliosis	55252	ASXL2	OMIM:617190
HP:0002650	Scoliosis	5077	PAX3	ORPHA:894
HP:0002650	Scoliosis	26137	ZBTB20	ORPHA:3042
HP:0002650	Scoliosis	84295	PHF6	OMIM:301900
HP:0002650	Scoliosis	11014	KDELR2	OMIM:619131
HP:0002650	Scoliosis	2733	GLE1	OMIM:611890
HP:0002650	Scoliosis	22800	RRAS2	ORPHA:648
HP:0002650	Scoliosis	867	CBL	ORPHA:648
HP:0002650	Scoliosis	6016	RIT1	ORPHA:648
HP:0002650	Scoliosis	6237	RRAS	ORPHA:648
HP:0002650	Scoliosis	22808	MRAS	ORPHA:648
HP:0002650	Scoliosis	200734	SPRED2	ORPHA:648
HP:0002650	Scoliosis	6655	SOS2	ORPHA:648
HP:0002650	Scoliosis	5922	RASA2	ORPHA:648
HP:0002650	Scoliosis	5479	PPIB	OMIM:259440
HP:0002650	Scoliosis	4693	NDP	ORPHA:649
HP:0002650	Scoliosis	55074	OXR1	OMIM:213000
HP:0002650	Scoliosis	5076	PAX2	OMIM:120330
HP:0002650	Scoliosis	11011	TLK2	OMIM:618050
HP:0002650	Scoliosis	129285	PPP1R21	OMIM:619383
HP:0002650	Scoliosis	221692	PHACTR1	OMIM:618298
HP:0002650	Scoliosis	161742	SPRED1	ORPHA:137605
HP:0002650	Scoliosis	871	SERPINH1	OMIM:613848
HP:0002650	Scoliosis	121340	SP7	OMIM:613849
HP:0002650	Scoliosis	7421	VDR	ORPHA:93160
HP:0002650	Scoliosis	23769	FLRT1	ORPHA:320406
HP:0002650	Scoliosis	64837	KLC2	ORPHA:320406
HP:0002650	Scoliosis	64837	KLC2	OMIM:609541
HP:0002650	Scoliosis	10262	SF3B4	OMIM:154400
HP:0002650	Scoliosis	9871	SEC24D	ORPHA:2050
HP:0002650	Scoliosis	347734	SLC35B2	OMIM:620269
HP:0002650	Scoliosis	10992	SF3B2	OMIM:164210
HP:0002650	Scoliosis	1119	CHKA	OMIM:620023
HP:0002650	Scoliosis	118987	PDZD8	OMIM:620021
HP:0002650	Scoliosis	8443	GNPAT	OMIM:222765
HP:0002650	Scoliosis	10324	KLHL41	ORPHA:171436
HP:0002650	Scoliosis	10324	KLHL41	OMIM:615731
HP:0002650	Scoliosis	10324	KLHL41	ORPHA:171439
HP:0002650	Scoliosis	56203	LMOD3	ORPHA:171436
HP:0002650	Scoliosis	100996717	NOTCH2NLC	ORPHA:2289
HP:0002650	Scoliosis	8200	GDF5	ORPHA:93388
HP:0002650	Scoliosis	8200	GDF5	ORPHA:968
HP:0002650	Scoliosis	658	BMPR1B	ORPHA:93388
HP:0002650	Scoliosis	2673	GFPT1	ORPHA:353327
HP:0002650	Scoliosis	199857	ALG14	ORPHA:353327
HP:0002650	Scoliosis	1351	COX8A	OMIM:619059
HP:0002650	Scoliosis	100131801	PET100	OMIM:619055
HP:0002650	Scoliosis	3899	AFF3	OMIM:619297
HP:0002650	Scoliosis	7040	TGFB1	OMIM:131300
HP:0002650	Scoliosis	7040	TGFB1	ORPHA:1328
HP:0002650	Scoliosis	274	BIN1	OMIM:255200
HP:0002650	Scoliosis	7840	ALMS1	OMIM:203800
HP:0002650	Scoliosis	374393	FAM111B	OMIM:615704
HP:0002650	Scoliosis	6911	TBX6	OMIM:122600
HP:0002650	Scoliosis	6911	TBX6	ORPHA:1797
HP:0002650	Scoliosis	121512	FGD4	OMIM:609311
HP:0002650	Scoliosis	2335	FN1	OMIM:184255
HP:0002650	Scoliosis	2335	FN1	ORPHA:93315
HP:0002650	Scoliosis	375	ARF1	ORPHA:98892
HP:0002650	Scoliosis	4131	MAP1B	ORPHA:98892
HP:0002650	Scoliosis	23327	NEDD4L	ORPHA:98892
HP:0002650	Scoliosis	160418	TMTC3	ORPHA:98892
HP:0002650	Scoliosis	10564	ARFGEF2	ORPHA:98892
HP:0002650	Scoliosis	1267	CNP	OMIM:619071
HP:0002650	Scoliosis	1857	DVL3	ORPHA:3107
HP:0002650	Scoliosis	1857	DVL3	OMIM:616894
HP:0002650	Scoliosis	7474	WNT5A	ORPHA:3107
HP:0002650	Scoliosis	6804	STX1A	ORPHA:904
HP:0002650	Scoliosis	7461	CLIP2	ORPHA:904
HP:0002650	Scoliosis	84277	DNAJC30	ORPHA:904
HP:0002650	Scoliosis	8468	FKBP6	ORPHA:904
HP:0002650	Scoliosis	5982	RFC2	ORPHA:904
HP:0002650	Scoliosis	2969	GTF2I	ORPHA:904
HP:0002650	Scoliosis	3984	LIMK1	ORPHA:904
HP:0002650	Scoliosis	9569	GTF2IRD1	ORPHA:904
HP:0002650	Scoliosis	155382	VPS37D	ORPHA:904
HP:0002650	Scoliosis	155368	METTL27	ORPHA:904
HP:0002650	Scoliosis	114049	BUD23	ORPHA:904
HP:0002650	Scoliosis	7458	EIF4H	ORPHA:904
HP:0002650	Scoliosis	84163	GTF2IRD2	ORPHA:904
HP:0002650	Scoliosis	9275	BCL7B	ORPHA:904
HP:0002650	Scoliosis	26608	TBL2	ORPHA:904
HP:0002650	Scoliosis	653361	NCF1	ORPHA:904
HP:0002650	Scoliosis	135886	TMEM270	ORPHA:904
HP:0002650	Scoliosis	9031	BAZ1B	ORPHA:904
HP:0002650	Scoliosis	285175	UNC80	OMIM:616801
HP:0002650	Scoliosis	285175	UNC80	ORPHA:371364
HP:0002650	Scoliosis	81031	SLC2A10	ORPHA:3342
HP:0002650	Scoliosis	81031	SLC2A10	OMIM:208050
HP:0002650	Scoliosis	9990	SLC12A6	OMIM:620068
HP:0002650	Scoliosis	9990	SLC12A6	OMIM:218000
HP:0002650	Scoliosis	10236	HNRNPR	OMIM:620073
HP:0002650	Scoliosis	2521	FUS	ORPHA:300605
HP:0002650	Scoliosis	10280	SIGMAR1	ORPHA:300605
HP:0002650	Scoliosis	10558	SPTLC1	ORPHA:300605
HP:0002650	Scoliosis	5594	MAPK1	OMIM:619087
HP:0002650	Scoliosis	23065	EMC1	ORPHA:480898
HP:0002650	Scoliosis	23065	EMC1	OMIM:616875
HP:0002650	Scoliosis	3187	HNRNPH1	OMIM:620083
HP:0002650	Scoliosis	4677	NARS1	OMIM:619091
HP:0002650	Scoliosis	7140	TNNT3	ORPHA:1147
HP:0002650	Scoliosis	84665	MYPN	ORPHA:171439
HP:0002650	Scoliosis	390594	KBTBD13	ORPHA:171439
HP:0002650	Scoliosis	55681	SCYL2	ORPHA:1143
HP:0002650	Scoliosis	84570	COL25A1	ORPHA:1143
HP:0002650	Scoliosis	57222	ERGIC1	ORPHA:1143
HP:0002650	Scoliosis	2688	GH1	OMIM:173100
HP:0002650	Scoliosis	9939	RBM8A	ORPHA:3320
HP:0002650	Scoliosis	2010	EMD	ORPHA:98863
HP:0002650	Scoliosis	26353	HSPB8	OMIM:608673
HP:0002650	Scoliosis	3329	HSPD1	ORPHA:100994
HP:0002650	Scoliosis	2702	GJA5	OMIM:612474
HP:0002650	Scoliosis	2703	GJA8	OMIM:612474
HP:0002650	Scoliosis	55690	PACS1	ORPHA:329224
HP:0002650	Scoliosis	4352	MPL	ORPHA:3319
HP:0002650	Scoliosis	7066	THPO	ORPHA:3319
HP:0002650	Scoliosis	284119	CAVIN1	OMIM:613327
HP:0002650	Scoliosis	23064	SETX	OMIM:606002
HP:0002650	Scoliosis	3720	JARID2	OMIM:620098
HP:0002650	Scoliosis	79188	TMEM43	ORPHA:98853
HP:0002650	Scoliosis	23224	SYNE2	ORPHA:98853
HP:0002650	Scoliosis	54808	DYM	OMIM:607326
HP:0002650	Scoliosis	54808	DYM	OMIM:223800
HP:0002650	Scoliosis	9420	CYP7B1	ORPHA:100986
HP:0002650	Scoliosis	9420	CYP7B1	OMIM:270800
HP:0002650	Scoliosis	9780	PIEZO1	OMIM:616843
HP:0002650	Scoliosis	4297	KMT2A	OMIM:605130
HP:0002650	Scoliosis	101929726	MYMX	ORPHA:1358
HP:0002650	Scoliosis	101929726	MYMX	OMIM:619941
HP:0002650	Scoliosis	5718	PSMD12	ORPHA:529962
HP:0002650	Scoliosis	2186	BPTF	ORPHA:529962
HP:0002650	Scoliosis	84342	COG8	OMIM:611182
HP:0002650	Scoliosis	89874	SLC25A21	OMIM:618811
HP:0002650	Scoliosis	79633	FAT4	OMIM:615546
HP:0002650	Scoliosis	3418	IDH2	ORPHA:163634
HP:0002650	Scoliosis	3417	IDH1	ORPHA:163634
HP:0002650	Scoliosis	7874	USP7	ORPHA:500055
HP:0002650	Scoliosis	6628	SNRPB	OMIM:117650
HP:0002650	Scoliosis	4929	NR4A2	ORPHA:98808
HP:0002650	Scoliosis	3615	IMPDH2	ORPHA:98808
HP:0002650	Scoliosis	2588	GALNS	OMIM:253000
HP:0002650	Scoliosis	9791	PTDSS1	ORPHA:2658
HP:0002650	Scoliosis	29957	SLC25A24	OMIM:612289
HP:0002650	Scoliosis	490	ATP2B1	OMIM:619910
HP:0002650	Scoliosis	2670	GFAP	ORPHA:363722
HP:0002650	Scoliosis	2670	GFAP	ORPHA:363717
HP:0002650	Scoliosis	54870	QRICH1	OMIM:617982
HP:0002650	Scoliosis	3295	HSD17B4	OMIM:233400
HP:0002650	Scoliosis	5500	PPP1CB	OMIM:617506
HP:0002650	Scoliosis	54676	GTPBP2	OMIM:617988
HP:0002650	Scoliosis	8241	RBM10	ORPHA:2886
HP:0002650	Scoliosis	2767	GNA11	ORPHA:1556
HP:0002650	Scoliosis	151188	ARL6IP6	ORPHA:1556
HP:0002650	Scoliosis	6529	SLC6A1	OMIM:616421
HP:0002650	Scoliosis	22943	DKK1	ORPHA:268882
HP:0002650	Scoliosis	3664	IRF6	ORPHA:1300
HP:0002650	Scoliosis	8815	BANF1	OMIM:614008
HP:0002650	Scoliosis	10584	COLEC10	ORPHA:293843
HP:0002650	Scoliosis	5648	MASP1	ORPHA:293843
HP:0002650	Scoliosis	78989	COLEC11	ORPHA:293843
HP:0002650	Scoliosis	57731	SPTBN4	OMIM:617519
HP:0002650	Scoliosis	166929	SGMS2	OMIM:126550
HP:0002650	Scoliosis	4848	CNOT2	OMIM:618608
HP:0002650	Scoliosis	23529	CLCF1	ORPHA:1545
HP:0002650	Scoliosis	26229	B3GAT3	OMIM:245600
HP:0002650	Scoliosis	51733	UPB1	OMIM:613161
HP:0002650	Scoliosis	2902	GRIN1	OMIM:614254
HP:0002650	Scoliosis	22827	PUF60	OMIM:615583
HP:0002650	Scoliosis	26277	TINF2	ORPHA:1775
HP:0002650	Scoliosis	55651	NHP2	ORPHA:1775
HP:0002650	Scoliosis	79650	USB1	ORPHA:1775
HP:0002650	Scoliosis	55135	WRAP53	ORPHA:1775
HP:0002650	Scoliosis	51750	RTEL1	ORPHA:1775
HP:0002650	Scoliosis	4869	NPM1	ORPHA:1775
HP:0002650	Scoliosis	7012	TERC	ORPHA:1775
HP:0002650	Scoliosis	55505	NOP10	ORPHA:1775
HP:0002650	Scoliosis	5073	PARN	ORPHA:1775
HP:0002650	Scoliosis	7015	TERT	ORPHA:1775
HP:0002650	Scoliosis	1736	DKC1	ORPHA:1775
HP:0002650	Scoliosis	7298	TYMS	ORPHA:1775
HP:0002650	Scoliosis	6736	SRY	ORPHA:1772
HP:0002650	Scoliosis	55753	OGDHL	OMIM:619701
HP:0002650	Scoliosis	58508	KMT2C	OMIM:617768
HP:0002650	Scoliosis	9570	GOSR2	OMIM:614018
HP:0002650	Scoliosis	4629	MYH11	ORPHA:91387
HP:0002650	Scoliosis	4089	SMAD4	ORPHA:91387
HP:0002650	Scoliosis	59	ACTA2	ORPHA:91387
HP:0002650	Scoliosis	5592	PRKG1	ORPHA:91387
HP:0002650	Scoliosis	2301	FOXE3	ORPHA:91387
HP:0002650	Scoliosis	4144	MAT2A	ORPHA:91387
HP:0002650	Scoliosis	23493	HEY2	ORPHA:91387
HP:0002650	Scoliosis	8076	MFAP5	ORPHA:91387
HP:0002650	Scoliosis	4638	MYLK	ORPHA:91387
HP:0002650	Scoliosis	6399	TRAPPC2	ORPHA:93284
HP:0002650	Scoliosis	9131	AIFM1	OMIM:300232
HP:0002650	Scoliosis	6834	SURF1	OMIM:616684
HP:0002650	Scoliosis	8838	CCN6	OMIM:208230
HP:0002650	Scoliosis	11284	PNKP	ORPHA:459033
HP:0002650	Scoliosis	3008	H1-4	OMIM:617537
HP:0002650	Scoliosis	1788	DNMT3A	ORPHA:404443
HP:0002650	Scoliosis	4359	MPZ	OMIM:180800
HP:0002650	Scoliosis	4359	MPZ	ORPHA:3115
HP:0002650	Scoliosis	4359	MPZ	OMIM:118200
HP:0002650	Scoliosis	4359	MPZ	OMIM:145900
HP:0002650	Scoliosis	5376	PMP22	OMIM:180800
HP:0002650	Scoliosis	5376	PMP22	ORPHA:3115
HP:0002650	Scoliosis	5376	PMP22	ORPHA:101081
HP:0002650	Scoliosis	5376	PMP22	OMIM:118220
HP:0002650	Scoliosis	5376	PMP22	OMIM:145900
HP:0002650	Scoliosis	79581	SLC52A2	OMIM:614707
HP:0002650	Scoliosis	9401	RECQL4	OMIM:268400
HP:0002650	Scoliosis	4784	NFIX	ORPHA:447980
HP:0002650	Scoliosis	4784	NFIX	OMIM:602535
HP:0002650	Scoliosis	54332	GDAP1	OMIM:607831
HP:0002650	Scoliosis	54332	GDAP1	OMIM:214400
HP:0002650	Scoliosis	56704	JPH1	OMIM:607831
HP:0002650	Scoliosis	1278	COL1A2	ORPHA:230851
HP:0002650	Scoliosis	65993	MRPS34	OMIM:617664
HP:0002650	Scoliosis	1855	DVL1	OMIM:616331
HP:0002650	Scoliosis	64412	GZF1	OMIM:617662
HP:0002650	Scoliosis	2137	EXTL3	OMIM:617425
HP:0002650	Scoliosis	2201	FBN2	OMIM:121050
HP:0002650	Scoliosis	3149	HMGB3	OMIM:300915
HP:0002650	Scoliosis	10847	SRCAP	ORPHA:2044
HP:0002650	Scoliosis	10847	SRCAP	OMIM:136140
HP:0002650	Scoliosis	6662	SOX9	OMIM:114290
HP:0002650	Scoliosis	10978	CLP1	OMIM:615803
HP:0002650	Scoliosis	81846	SBF2	OMIM:604563
HP:0002650	Scoliosis	81846	SBF2	ORPHA:99956
HP:0002650	Scoliosis	9382	COG1	OMIM:611209
HP:0002650	Scoliosis	9382	COG1	ORPHA:263508
HP:0002650	Scoliosis	57231	SNX14	ORPHA:397709
HP:0002650	Scoliosis	57231	SNX14	OMIM:616354
HP:0002650	Scoliosis	1763	DNA2	OMIM:615807
HP:0002650	Scoliosis	54	ACP5	OMIM:607944
HP:0002650	Scoliosis	1280	COL2A1	OMIM:616583
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:85198
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:93316
HP:0002650	Scoliosis	9469	CHST3	OMIM:143095
HP:0002650	Scoliosis	9469	CHST3	ORPHA:263463
HP:0002650	Scoliosis	113189	CHST14	ORPHA:2953
HP:0002650	Scoliosis	29940	DSE	ORPHA:2953
HP:0002650	Scoliosis	23545	ATP6V0A2	ORPHA:2834
HP:0002650	Scoliosis	4853	NOTCH2	OMIM:102500
HP:0002650	Scoliosis	10381	TUBB3	ORPHA:300570
HP:0002650	Scoliosis	23184	MESD	OMIM:618644
HP:0002650	Scoliosis	55858	TMEM165	OMIM:614727
HP:0002650	Scoliosis	5191	PEX7	OMIM:215100
HP:0002650	Scoliosis	57190	SELENON	ORPHA:2020
HP:0002650	Scoliosis	58	ACTA1	ORPHA:2020
HP:0002650	Scoliosis	4633	MYL2	ORPHA:2020
HP:0002650	Scoliosis	3679	ITGA7	ORPHA:2020
HP:0002650	Scoliosis	7169	TPM2	ORPHA:2020
HP:0002650	Scoliosis	7169	TPM2	OMIM:609285
HP:0002650	Scoliosis	9200	HACD1	ORPHA:2020
HP:0002650	Scoliosis	7170	TPM3	ORPHA:2020
HP:0002650	Scoliosis	51776	MAP3K20	ORPHA:2020
HP:0002650	Scoliosis	4763	NF1	ORPHA:363700
HP:0002650	Scoliosis	1303	COL12A1	OMIM:616470
HP:0002650	Scoliosis	1303	COL12A1	ORPHA:536516
HP:0002650	Scoliosis	1193	CLIC2	ORPHA:324410
HP:0002650	Scoliosis	1193	CLIC2	OMIM:300886
HP:0002650	Scoliosis	10682	EBP	ORPHA:35173
HP:0002650	Scoliosis	10682	EBP	OMIM:302960
HP:0002650	Scoliosis	60	ACTB	OMIM:607371
HP:0002650	Scoliosis	649	BMP1	OMIM:614856
HP:0002650	Scoliosis	4598	MVK	OMIM:610377
HP:0002650	Scoliosis	165	AEBP1	ORPHA:536532
HP:0002650	Scoliosis	2074	ERCC6	OMIM:214150
HP:0002650	Scoliosis	6261	RYR1	ORPHA:597
HP:0002650	Scoliosis	6261	RYR1	OMIM:619542
HP:0002650	Scoliosis	5654	HTRA1	ORPHA:199354
HP:0002650	Scoliosis	59341	TRPV4	OMIM:184252
HP:0002650	Scoliosis	59341	TRPV4	OMIM:156530
HP:0002650	Scoliosis	59341	TRPV4	ORPHA:93304
HP:0002650	Scoliosis	55131	RBM28	ORPHA:157954
HP:0002650	Scoliosis	55131	RBM28	OMIM:612079
HP:0002650	Scoliosis	8260	NAA10	OMIM:309800
HP:0002650	Scoliosis	54880	BCOR	OMIM:309800
HP:0002650	Scoliosis	63895	PIEZO2	OMIM:114300
HP:0002650	Scoliosis	9255	AIMP1	OMIM:260600
HP:0002650	Scoliosis	3845	KRAS	OMIM:163200
HP:0002650	Scoliosis	4893	NRAS	OMIM:163200
HP:0002650	Scoliosis	3265	HRAS	OMIM:163200
HP:0002650	Scoliosis	6506	SLC1A2	OMIM:617105
HP:0002650	Scoliosis	84919	PPP1R15B	OMIM:616817
HP:0002650	Scoliosis	84919	PPP1R15B	ORPHA:391408
HP:0002650	Scoliosis	388015	RTL1	ORPHA:96334
HP:0002650	Scoliosis	8788	DLK1	ORPHA:96334
HP:0002650	Scoliosis	55384	MEG3	ORPHA:96334
HP:0002650	Scoliosis	2316	FLNA	OMIM:304120
HP:0002650	Scoliosis	2316	FLNA	OMIM:309350
HP:0002650	Scoliosis	51085	MLXIPL	OMIM:194050
HP:0002650	Scoliosis	2006	ELN	OMIM:194050
HP:0002650	Scoliosis	10667	FARS2	ORPHA:466722
HP:0002650	Scoliosis	11128	POLR3A	ORPHA:3455
HP:0002650	Scoliosis	10430	TMEM147	OMIM:620075
HP:0002650	Scoliosis	5373	PMM2	ORPHA:79318
HP:0002650	Scoliosis	339855	KY	ORPHA:496689
HP:0002650	Scoliosis	9147	NEMF	OMIM:619099
HP:0002650	Scoliosis	546	ATRX	OMIM:309580
HP:0002650	Scoliosis	546	ATRX	OMIM:301040
HP:0002650	Scoliosis	6611	SMS	OMIM:309583
HP:0002650	Scoliosis	6611	SMS	ORPHA:3063
HP:0002650	Scoliosis	7317	UBA1	ORPHA:1145
HP:0002650	Scoliosis	3339	HSPG2	OMIM:255800
HP:0002650	Scoliosis	60681	FKBP10	OMIM:610968
HP:0002650	Scoliosis	4313	MMP2	OMIM:259600
HP:0002650	Scoliosis	6567	SLC16A2	ORPHA:59
HP:0002650	Scoliosis	5832	ALDH18A1	ORPHA:447760
HP:0002650	Scoliosis	10397	NDRG1	ORPHA:99950
HP:0002650	Scoliosis	10397	NDRG1	OMIM:601455
HP:0002650	Scoliosis	5781	PTPN11	OMIM:151100
HP:0002650	Scoliosis	5781	PTPN11	OMIM:163950
HP:0002650	Scoliosis	91252	SLC39A13	OMIM:612350
HP:0002650	Scoliosis	9894	TELO2	OMIM:616954
HP:0002650	Scoliosis	9894	TELO2	ORPHA:488642
HP:0002650	Scoliosis	2744	GLS	OMIM:618339
HP:0002650	Scoliosis	196528	ARID2	OMIM:617808
HP:0002650	Scoliosis	1959	EGR2	OMIM:145900
HP:0002650	Scoliosis	57716	PRX	OMIM:145900
HP:0002650	Scoliosis	23111	SPART	OMIM:275900
HP:0002650	Scoliosis	5351	PLOD1	OMIM:225400
HP:0002650	Scoliosis	579	NKX3-2	OMIM:613330
HP:0002650	Scoliosis	57122	NUP107	OMIM:618348
HP:0002650	Scoliosis	50814	NSDHL	ORPHA:251383
HP:0002650	Scoliosis	411	ARSB	OMIM:253200
HP:0002650	Scoliosis	9150	CTDP1	OMIM:604168
HP:0002650	Scoliosis	4722	NDUFS3	OMIM:618230
HP:0002650	Scoliosis	55033	FKBP14	OMIM:614557
HP:0002650	Scoliosis	55033	FKBP14	ORPHA:300179
HP:0002650	Scoliosis	4041	LRP5	OMIM:259770
HP:0002650	Scoliosis	3736	KCNA1	ORPHA:37612
HP:0002650	Scoliosis	2068	ERCC2	OMIM:610756
HP:0002650	Scoliosis	10683	DLL3	OMIM:277300
HP:0002650	Scoliosis	145873	MESP2	OMIM:277300
HP:0002650	Scoliosis	2067	ERCC1	OMIM:610758
HP:0002650	Scoliosis	4204	MECP2	OMIM:300055
HP:0002650	Scoliosis	4204	MECP2	ORPHA:3077
HP:0002650	Scoliosis	8925	HERC1	ORPHA:457359
HP:0002650	Scoliosis	4621	MYH3	OMIM:193700
HP:0002650	Scoliosis	22930	RAB3GAP1	OMIM:600118
HP:0002650	Scoliosis	2530	FUT8	OMIM:618005
HP:0002650	Scoliosis	2200	FBN1	OMIM:154700
HP:0002650	Scoliosis	84068	SLC10A7	OMIM:618363
HP:0002650	Scoliosis	23345	SYNE1	OMIM:618484
HP:0002650	Scoliosis	182	JAG1	OMIM:619574
HP:0002650	Scoliosis	7965	AIMP2	OMIM:618006
HP:0002650	Scoliosis	92344	GORAB	OMIM:231070
HP:0002650	Scoliosis	6678	SPARC	OMIM:616507
HP:0002650	Scoliosis	25778	DSTYK	ORPHA:101003
HP:0002650	Scoliosis	4547	MTTP	ORPHA:14
HP:0002650	Scoliosis	80185	TTI2	OMIM:615541
HP:0002650	Scoliosis	80185	TTI2	ORPHA:391307
HP:0002650	Scoliosis	84896	ATAD1	OMIM:618011
HP:0002650	Scoliosis	51715	RAB23	ORPHA:65759
HP:0002650	Scoliosis	1954	MEGF8	ORPHA:65759
HP:0002650	Scoliosis	79147	FKRP	ORPHA:370980
HP:0002650	Scoliosis	2218	FKTN	ORPHA:370980
HP:0002650	Scoliosis	729920	CRPPA	ORPHA:370980
HP:0002650	Scoliosis	10585	POMT1	ORPHA:370980
HP:0002650	Scoliosis	9244	CRLF1	OMIM:272430
HP:0002650	Scoliosis	26040	SETBP1	ORPHA:798
HP:0002650	Scoliosis	5727	PTCH1	OMIM:109400
HP:0002650	Scoliosis	11285	B4GALT7	ORPHA:75496
HP:0002650	Scoliosis	3835	KIF22	ORPHA:93360
HP:0002650	Scoliosis	4000	LMNA	OMIM:605588
HP:0002650	Scoliosis	1861	TOR1A	OMIM:618947
HP:0002650	Scoliosis	23233	EXOC6B	ORPHA:93359
HP:0002650	Scoliosis	126792	B3GALT6	ORPHA:93359
HP:0002650	Scoliosis	126792	B3GALT6	OMIM:271640
HP:0002650	Scoliosis	126792	B3GALT6	ORPHA:536467
HP:0002650	Scoliosis	126792	B3GALT6	OMIM:615349
HP:0002650	Scoliosis	22931	RAB18	OMIM:614222
HP:0002650	Scoliosis	4659	PPP1R12A	OMIM:618820
HP:0002650	Scoliosis	10382	TUBB4A	ORPHA:98805
HP:0002650	Scoliosis	56270	WDR45B	OMIM:617977
HP:0002650	Scoliosis	9060	PAPSS2	OMIM:612847
HP:0002650	Scoliosis	4796	TONSL	ORPHA:93357
HP:0002650	Scoliosis	4796	TONSL	OMIM:271510
HP:0002650	Scoliosis	1836	SLC26A2	OMIM:222600
HP:0002650	Scoliosis	285590	SH3PXD2B	OMIM:249420
HP:0002650	Scoliosis	4841	NONO	OMIM:300967
HP:0002650	Scoliosis	4841	NONO	ORPHA:466791
HP:0002650	Scoliosis	6197	RPS6KA3	OMIM:300844
HP:0002650	Scoliosis	207	AKT1	OMIM:176920
HP:0002650	Scoliosis	60482	SLC5A7	ORPHA:98914
HP:0002650	Scoliosis	4649	MYO9A	ORPHA:98914
HP:0002650	Scoliosis	1305	COL13A1	ORPHA:98914
HP:0002650	Scoliosis	1103	CHAT	ORPHA:98914
HP:0002650	Scoliosis	6576	SLC25A1	ORPHA:98914
HP:0002650	Scoliosis	6843	VAMP1	ORPHA:98914
HP:0002650	Scoliosis	375790	AGRN	ORPHA:98914
HP:0002650	Scoliosis	127833	SYT2	ORPHA:98914
HP:0002650	Scoliosis	6572	SLC18A3	ORPHA:98914
HP:0002650	Scoliosis	6616	SNAP25	ORPHA:98914
HP:0002650	Scoliosis	55717	WDR11	OMIM:620237
HP:0002650	Scoliosis	93587	TRMT10A	ORPHA:391408
HP:0002650	Scoliosis	2273	FHL1	OMIM:300280
HP:0002650	Scoliosis	6651	SON	ORPHA:500150
HP:0002650	Scoliosis	89970	RSPRY1	ORPHA:457395
HP:0002650	Scoliosis	80208	SPG11	OMIM:616668
HP:0002650	Scoliosis	1073	CFL2	OMIM:610687
HP:0002650	Scoliosis	138050	HGSNAT	OMIM:252930
HP:0002650	Scoliosis	875	CBS	OMIM:236200
HP:0002650	Scoliosis	10269	ZMPSTE24	OMIM:275210
HP:0002650	Scoliosis	3908	LAMA2	OMIM:607855
HP:0002650	Scoliosis	7043	TGFB3	OMIM:615582
HP:0002650	Scoliosis	4137	MAPT	OMIM:260540
HP:0002650	Scoliosis	523	ATP6V1A	OMIM:617403
HP:0002650	Scoliosis	529	ATP6V1E1	OMIM:617402
HP:0002650	Scoliosis	26123	TCTN3	OMIM:614815
HP:0002650	Scoliosis	8517	IKBKG	OMIM:308300
HP:0002650	Scoliosis	246329	STAC3	OMIM:255995
HP:0002650	Scoliosis	5604	MAP2K1	OMIM:163950
HP:0002650	Scoliosis	673	BRAF	OMIM:163950
HP:0002650	Scoliosis	5296	PIK3R2	OMIM:603387
HP:0002650	Scoliosis	91574	MTRFR	ORPHA:254930
HP:0002650	Scoliosis	3094	HINT1	ORPHA:324442
HP:0002650	Scoliosis	124997	WDR81	OMIM:610185
HP:0002650	Scoliosis	5593	PRKG2	OMIM:619636
HP:0002650	Scoliosis	7841	MOGS	OMIM:606056
HP:0002650	Scoliosis	7841	MOGS	ORPHA:79330
HP:0002650	Scoliosis	10613	ERLIN1	ORPHA:401785
HP:0002650	Scoliosis	10613	ERLIN1	OMIM:615681
HP:0002650	Scoliosis	55969	RAB5IF	OMIM:616994
HP:0002650	Scoliosis	5830	PEX5	OMIM:616716
HP:0002650	Scoliosis	2799	GNS	OMIM:252940
HP:0002650	Scoliosis	84700	MYO18B	OMIM:616549
HP:0002650	Scoliosis	169792	GLIS3	OMIM:610199
HP:0002650	Scoliosis	2783	GNB2	OMIM:619503
HP:0002650	Scoliosis	3930	LBR	OMIM:618019
HP:0002650	Scoliosis	1009	CDH11	ORPHA:1299
HP:0002650	Scoliosis	25871	NEPRO	OMIM:618853
HP:0002650	Scoliosis	10940	POP1	OMIM:617396
HP:0002650	Scoliosis	4247	MGAT2	OMIM:212066
HP:0002650	Scoliosis	8022	LHX3	ORPHA:231720
HP:0002650	Scoliosis	79158	GNPTAB	OMIM:252500
HP:0002650	Scoliosis	10533	ATG7	OMIM:619422
HP:0002650	Scoliosis	55870	ASH1L	OMIM:617796
HP:0002650	Scoliosis	51199	NIN	OMIM:614851
HP:0002650	Scoliosis	51199	NIN	ORPHA:319675
HP:0002650	Scoliosis	164	AP1G1	OMIM:619548
HP:0002650	Scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0002650	Scoliosis	57465	TBC1D24	ORPHA:79500
HP:0002650	Scoliosis	3373	HYAL1	OMIM:601492
HP:0002650	Scoliosis	7703	PCGF2	OMIM:618371
HP:0002650	Scoliosis	83932	SPRTN	OMIM:616200
HP:0002650	Scoliosis	83737	ITCH	OMIM:613385
HP:0002650	Scoliosis	1674	DES	ORPHA:98909
HP:0002650	Scoliosis	57211	ADGRG6	OMIM:616503
HP:0002650	Scoliosis	29920	PYCR2	ORPHA:481152
HP:0003304	Spondylolysis	4010	LMX1B	ORPHA:2614
HP:0003304	Spondylolysis	1513	CTSK	ORPHA:763
HP:0003304	Spondylolysis	1513	CTSK	OMIM:265800
HP:0003304	Spondylolysis	175	AGA	OMIM:208400
HP:0003304	Spondylolysis	860	RUNX2	OMIM:119600
HP:0003304	Spondylolysis	2317	FLNB	OMIM:150250
HP:0003304	Spondylolysis	2316	FLNA	OMIM:304120
HP:0003305	Block vertebrae	7547	ZIC3	OMIM:306955
HP:0003305	Block vertebrae	84667	HES7	OMIM:613686
HP:0003305	Block vertebrae	10992	SF3B2	OMIM:164210
HP:0003305	Block vertebrae	2317	FLNB	OMIM:272460
HP:0003305	Block vertebrae	10683	DLL3	OMIM:277300
HP:0003305	Block vertebrae	145873	MESP2	OMIM:277300
HP:0003306	Spinal rigidity	57190	SELENON	ORPHA:324604
HP:0003306	Spinal rigidity	57190	SELENON	ORPHA:97244
HP:0003306	Spinal rigidity	57190	SELENON	OMIM:602771
HP:0003306	Spinal rigidity	4625	MYH7	ORPHA:324604
HP:0003306	Spinal rigidity	7273	TTN	ORPHA:324604
HP:0003306	Spinal rigidity	58	ACTA1	ORPHA:97244
HP:0003306	Spinal rigidity	58	ACTA1	OMIM:161800
HP:0003306	Spinal rigidity	58	ACTA1	ORPHA:171436
HP:0003306	Spinal rigidity	58	ACTA1	ORPHA:171439
HP:0003306	Spinal rigidity	10585	POMT1	OMIM:609308
HP:0003306	Spinal rigidity	10585	POMT1	ORPHA:86812
HP:0003306	Spinal rigidity	1291	COL6A1	OMIM:254090
HP:0003306	Spinal rigidity	1291	COL6A1	ORPHA:75840
HP:0003306	Spinal rigidity	1291	COL6A1	ORPHA:610
HP:0003306	Spinal rigidity	1292	COL6A2	OMIM:254090
HP:0003306	Spinal rigidity	1292	COL6A2	ORPHA:75840
HP:0003306	Spinal rigidity	1292	COL6A2	ORPHA:610
HP:0003306	Spinal rigidity	1292	COL6A2	OMIM:255600
HP:0003306	Spinal rigidity	1293	COL6A3	OMIM:254090
HP:0003306	Spinal rigidity	1293	COL6A3	ORPHA:75840
HP:0003306	Spinal rigidity	1293	COL6A3	ORPHA:610
HP:0003306	Spinal rigidity	1305	COL13A1	OMIM:616720
HP:0003306	Spinal rigidity	1305	COL13A1	ORPHA:98914
HP:0003306	Spinal rigidity	79912	PYROXD1	OMIM:617258
HP:0003306	Spinal rigidity	2218	FKTN	OMIM:253800
HP:0003306	Spinal rigidity	4703	NEB	OMIM:256030
HP:0003306	Spinal rigidity	4703	NEB	ORPHA:171436
HP:0003306	Spinal rigidity	4703	NEB	ORPHA:171439
HP:0003306	Spinal rigidity	1303	COL12A1	ORPHA:75840
HP:0003306	Spinal rigidity	1303	COL12A1	ORPHA:610
HP:0003306	Spinal rigidity	92667	MGME1	ORPHA:352447
HP:0003306	Spinal rigidity	92667	MGME1	OMIM:615084
HP:0003306	Spinal rigidity	4000	LMNA	OMIM:181350
HP:0003306	Spinal rigidity	4000	LMNA	ORPHA:157973
HP:0003306	Spinal rigidity	4000	LMNA	OMIM:613205
HP:0003306	Spinal rigidity	4000	LMNA	ORPHA:98855
HP:0003306	Spinal rigidity	4000	LMNA	ORPHA:98853
HP:0003306	Spinal rigidity	11160	ERLIN2	ORPHA:209951
HP:0003306	Spinal rigidity	8291	DYSF	ORPHA:268
HP:0003306	Spinal rigidity	825	CAPN3	ORPHA:267
HP:0003306	Spinal rigidity	7169	TPM2	ORPHA:171436
HP:0003306	Spinal rigidity	7169	TPM2	ORPHA:171439
HP:0003306	Spinal rigidity	10324	KLHL41	ORPHA:171436
HP:0003306	Spinal rigidity	10324	KLHL41	ORPHA:171439
HP:0003306	Spinal rigidity	56203	LMOD3	ORPHA:171436
HP:0003306	Spinal rigidity	1073	CFL2	ORPHA:171436
HP:0003306	Spinal rigidity	9325	TRIP4	OMIM:617066
HP:0003306	Spinal rigidity	9325	TRIP4	ORPHA:486815
HP:0003306	Spinal rigidity	3714	JAG2	OMIM:619566
HP:0003306	Spinal rigidity	2273	FHL1	OMIM:300718
HP:0003306	Spinal rigidity	2273	FHL1	OMIM:300717
HP:0003306	Spinal rigidity	2273	FHL1	OMIM:300696
HP:0003306	Spinal rigidity	2273	FHL1	ORPHA:98863
HP:0003306	Spinal rigidity	84876	ORAI1	OMIM:615883
HP:0003306	Spinal rigidity	60482	SLC5A7	ORPHA:98914
HP:0003306	Spinal rigidity	4649	MYO9A	ORPHA:98914
HP:0003306	Spinal rigidity	1103	CHAT	ORPHA:98914
HP:0003306	Spinal rigidity	6576	SLC25A1	ORPHA:98914
HP:0003306	Spinal rigidity	6843	VAMP1	ORPHA:98914
HP:0003306	Spinal rigidity	6843	VAMP1	OMIM:618323
HP:0003306	Spinal rigidity	375790	AGRN	ORPHA:98914
HP:0003306	Spinal rigidity	127833	SYT2	ORPHA:98914
HP:0003306	Spinal rigidity	6572	SLC18A3	ORPHA:98914
HP:0003306	Spinal rigidity	6616	SNAP25	ORPHA:98914
HP:0003306	Spinal rigidity	90	ACVR1	ORPHA:337
HP:0003306	Spinal rigidity	26092	TOR1AIP1	OMIM:617072
HP:0003306	Spinal rigidity	29954	POMT2	OMIM:613150
HP:0003306	Spinal rigidity	339855	KY	OMIM:617114
HP:0003306	Spinal rigidity	1674	DES	ORPHA:98909
HP:0003306	Spinal rigidity	84665	MYPN	ORPHA:171439
HP:0003306	Spinal rigidity	390594	KBTBD13	ORPHA:171439
HP:0003306	Spinal rigidity	7170	TPM3	ORPHA:171439
HP:0003306	Spinal rigidity	4604	MYBPC1	OMIM:618524
HP:0003306	Spinal rigidity	1280	COL2A1	ORPHA:94068
HP:0003306	Spinal rigidity	2010	EMD	ORPHA:98863
HP:0003306	Spinal rigidity	3339	HSPG2	ORPHA:800
HP:0003306	Spinal rigidity	51763	INPP5K	OMIM:617404
HP:0003306	Spinal rigidity	284119	CAVIN1	OMIM:613327
HP:0003306	Spinal rigidity	23534	TNPO3	OMIM:608423
HP:0003306	Spinal rigidity	9531	BAG3	OMIM:612954
HP:0003306	Spinal rigidity	389827	MYMK	OMIM:254940
HP:0003306	Spinal rigidity	79188	TMEM43	ORPHA:98853
HP:0003306	Spinal rigidity	23345	SYNE1	ORPHA:98853
HP:0003306	Spinal rigidity	23224	SYNE2	ORPHA:98853
HP:0003307	Hyperlordosis	2137	EXTL3	ORPHA:508533
HP:0003307	Hyperlordosis	6399	TRAPPC2	ORPHA:93284
HP:0003307	Hyperlordosis	6399	TRAPPC2	OMIM:313400
HP:0003307	Hyperlordosis	65992	DDRGK1	OMIM:602557
HP:0003307	Hyperlordosis	2335	FN1	ORPHA:93315
HP:0003307	Hyperlordosis	1280	COL2A1	ORPHA:93315
HP:0003307	Hyperlordosis	1280	COL2A1	ORPHA:94068
HP:0003307	Hyperlordosis	1280	COL2A1	OMIM:183900
HP:0003307	Hyperlordosis	4010	LMX1B	ORPHA:2614
HP:0003307	Hyperlordosis	4010	LMX1B	OMIM:161200
HP:0003307	Hyperlordosis	23314	SATB2	ORPHA:251028
HP:0003307	Hyperlordosis	7415	VCP	OMIM:167320
HP:0003307	Hyperlordosis	7415	VCP	ORPHA:435387
HP:0003307	Hyperlordosis	23363	OBSL1	OMIM:612921
HP:0003307	Hyperlordosis	50814	NSDHL	ORPHA:251383
HP:0003307	Hyperlordosis	10060	ABCC9	OMIM:619719
HP:0003307	Hyperlordosis	59341	TRPV4	ORPHA:93314
HP:0003307	Hyperlordosis	411	ARSB	OMIM:253200
HP:0003307	Hyperlordosis	1302	COL11A2	OMIM:215150
HP:0003307	Hyperlordosis	1302	COL11A2	ORPHA:1427
HP:0003307	Hyperlordosis	2617	GARS1	OMIM:619042
HP:0003307	Hyperlordosis	473	RERE	OMIM:616975
HP:0003307	Hyperlordosis	10216	PRG4	ORPHA:2848
HP:0003307	Hyperlordosis	57156	TMEM63C	OMIM:619966
HP:0003307	Hyperlordosis	25782	RAB3GAP2	OMIM:212720
HP:0003307	Hyperlordosis	176	ACAN	OMIM:612813
HP:0003307	Hyperlordosis	176	ACAN	OMIM:165800
HP:0003307	Hyperlordosis	176	ACAN	ORPHA:171866
HP:0003307	Hyperlordosis	4625	MYH7	OMIM:160500
HP:0003307	Hyperlordosis	29925	GMPPB	ORPHA:353327
HP:0003307	Hyperlordosis	29925	GMPPB	ORPHA:370959
HP:0003307	Hyperlordosis	2673	GFPT1	ORPHA:353327
HP:0003307	Hyperlordosis	1798	DPAGT1	ORPHA:353327
HP:0003307	Hyperlordosis	85365	ALG2	ORPHA:353327
HP:0003307	Hyperlordosis	199857	ALG14	ORPHA:353327
HP:0003307	Hyperlordosis	54808	DYM	OMIM:223800
HP:0003307	Hyperlordosis	6660	SOX5	ORPHA:313892
HP:0003307	Hyperlordosis	4148	MATN3	ORPHA:156728
HP:0003307	Hyperlordosis	4148	MATN3	OMIM:608728
HP:0003307	Hyperlordosis	1300	COL10A1	ORPHA:174
HP:0003307	Hyperlordosis	1300	COL10A1	OMIM:156500
HP:0003307	Hyperlordosis	65082	VPS33A	ORPHA:505248
HP:0003307	Hyperlordosis	54	ACP5	OMIM:607944
HP:0003307	Hyperlordosis	8925	HERC1	ORPHA:457359
HP:0003307	Hyperlordosis	55870	ASH1L	OMIM:617796
HP:0003307	Hyperlordosis	4052	LTBP1	OMIM:619451
HP:0003307	Hyperlordosis	84665	MYPN	ORPHA:171881
HP:0003307	Hyperlordosis	7169	TPM2	ORPHA:171881
HP:0003307	Hyperlordosis	7170	TPM3	ORPHA:171881
HP:0003307	Hyperlordosis	7170	TPM3	OMIM:255310
HP:0003307	Hyperlordosis	9469	CHST3	OMIM:143095
HP:0003307	Hyperlordosis	2261	FGFR3	OMIM:146000
HP:0003307	Hyperlordosis	2261	FGFR3	ORPHA:15
HP:0003307	Hyperlordosis	2261	FGFR3	OMIM:616482
HP:0003307	Hyperlordosis	2261	FGFR3	OMIM:100800
HP:0003307	Hyperlordosis	4604	MYBPC1	OMIM:618524
HP:0003307	Hyperlordosis	64131	XYLT1	OMIM:615777
HP:0003307	Hyperlordosis	1292	COL6A2	OMIM:255600
HP:0003307	Hyperlordosis	1292	COL6A2	ORPHA:610
HP:0003307	Hyperlordosis	157680	VPS13B	OMIM:216550
HP:0003307	Hyperlordosis	23116	TOGARAM1	OMIM:619185
HP:0003307	Hyperlordosis	7703	PCGF2	OMIM:618371
HP:0003307	Hyperlordosis	1605	DAG1	ORPHA:280333
HP:0003307	Hyperlordosis	1605	DAG1	OMIM:613818
HP:0003307	Hyperlordosis	3549	IHH	OMIM:607778
HP:0003307	Hyperlordosis	633	BGN	OMIM:300106
HP:0003307	Hyperlordosis	164	AP1G1	OMIM:619467
HP:0003307	Hyperlordosis	26040	SETBP1	OMIM:616078
HP:0003307	Hyperlordosis	6023	RMRP	OMIM:607095
HP:0003307	Hyperlordosis	6023	RMRP	OMIM:250250
HP:0003307	Hyperlordosis	57531	HACE1	OMIM:616756
HP:0003307	Hyperlordosis	9927	MFN2	OMIM:601152
HP:0003307	Hyperlordosis	81794	ADAMTS10	OMIM:277600
HP:0003307	Hyperlordosis	1311	COMP	ORPHA:750
HP:0003307	Hyperlordosis	1311	COMP	OMIM:177170
HP:0003307	Hyperlordosis	6445	SGCG	ORPHA:353
HP:0003307	Hyperlordosis	10585	POMT1	OMIM:609308
HP:0003307	Hyperlordosis	10585	POMT1	ORPHA:370959
HP:0003307	Hyperlordosis	10585	POMT1	ORPHA:86812
HP:0003307	Hyperlordosis	4882	NPR2	OMIM:602875
HP:0003307	Hyperlordosis	84265	POLR3GL	OMIM:619234
HP:0003307	Hyperlordosis	55697	VAC14	OMIM:617054
HP:0003307	Hyperlordosis	8260	NAA10	OMIM:309800
HP:0003307	Hyperlordosis	54880	BCOR	OMIM:309800
HP:0003307	Hyperlordosis	85301	COL27A1	OMIM:615155
HP:0003307	Hyperlordosis	63895	PIEZO2	OMIM:114300
HP:0003307	Hyperlordosis	2517	FUCA1	OMIM:230000
HP:0003307	Hyperlordosis	5593	PRKG2	OMIM:619636
HP:0003307	Hyperlordosis	4796	TONSL	ORPHA:93357
HP:0003307	Hyperlordosis	4796	TONSL	OMIM:271510
HP:0003307	Hyperlordosis	145258	GSC	OMIM:602471
HP:0003307	Hyperlordosis	79147	FKRP	ORPHA:370959
HP:0003307	Hyperlordosis	29954	POMT2	ORPHA:370959
HP:0003307	Hyperlordosis	84197	POMK	ORPHA:370959
HP:0003307	Hyperlordosis	55624	POMGNT1	ORPHA:370959
HP:0003307	Hyperlordosis	2200	FBN1	OMIM:608328
HP:0003307	Hyperlordosis	1836	SLC26A2	OMIM:222600
HP:0003307	Hyperlordosis	1836	SLC26A2	OMIM:256050
HP:0003307	Hyperlordosis	6857	SYT1	ORPHA:522077
HP:0003307	Hyperlordosis	6473	SHOX	OMIM:249700
HP:0003307	Hyperlordosis	83737	ITCH	OMIM:613385
HP:0003307	Hyperlordosis	50485	SMARCAL1	ORPHA:1830
HP:0003307	Hyperlordosis	50485	SMARCAL1	OMIM:242900
HP:0003307	Hyperlordosis	23529	CLCF1	OMIM:610313
HP:0003307	Hyperlordosis	9968	MED12	OMIM:305450
HP:0003307	Hyperlordosis	1303	COL12A1	ORPHA:610
HP:0003307	Hyperlordosis	1291	COL6A1	ORPHA:610
HP:0003307	Hyperlordosis	1293	COL6A3	ORPHA:610
HP:0003307	Hyperlordosis	50515	CHST11	OMIM:618167
HP:0003307	Hyperlordosis	339855	KY	OMIM:617114
HP:0003307	Hyperlordosis	6651	SON	ORPHA:500150
HP:0003307	Hyperlordosis	1073	CFL2	OMIM:610687
HP:0003307	Hyperlordosis	3339	HSPG2	OMIM:255800
HP:0003307	Hyperlordosis	257	ALX3	ORPHA:391474
HP:0003307	Hyperlordosis	6261	RYR1	OMIM:619542
HP:0003307	Hyperlordosis	3991	LIPE	OMIM:615980
HP:0003307	Hyperlordosis	5339	PLEC	OMIM:613723
HP:0003307	Hyperlordosis	1756	DMD	ORPHA:206546
HP:0003307	Hyperlordosis	7291	TWIST1	ORPHA:794
HP:0003307	Hyperlordosis	2263	FGFR2	ORPHA:794
HP:0003307	Hyperlordosis	274	BIN1	ORPHA:169186
HP:0003307	Hyperlordosis	274	BIN1	OMIM:255200
HP:0003307	Hyperlordosis	10290	SPEG	ORPHA:169186
HP:0003307	Hyperlordosis	7273	TTN	ORPHA:169186
HP:0003307	Hyperlordosis	5979	RET	OMIM:162300
HP:0003307	Hyperlordosis	57190	SELENON	ORPHA:97244
HP:0003307	Hyperlordosis	57190	SELENON	ORPHA:2020
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:97244
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:171436
HP:0003307	Hyperlordosis	58	ACTA1	OMIM:616852
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:2020
HP:0003307	Hyperlordosis	58	ACTA1	OMIM:161800
HP:0003307	Hyperlordosis	8367	H4C5	OMIM:619950
HP:0003307	Hyperlordosis	60684	TRAPPC11	OMIM:615356
HP:0003307	Hyperlordosis	60684	TRAPPC11	ORPHA:369840
HP:0003307	Hyperlordosis	23394	ADNP	OMIM:615873
HP:0003307	Hyperlordosis	9820	CUL7	ORPHA:2616
HP:0003307	Hyperlordosis	9820	CUL7	OMIM:273750
HP:0003307	Hyperlordosis	83987	CCDC8	ORPHA:2616
HP:0003307	Hyperlordosis	83987	CCDC8	OMIM:614205
HP:0003307	Hyperlordosis	4703	NEB	OMIM:256030
HP:0003307	Hyperlordosis	4703	NEB	ORPHA:171436
HP:0003307	Hyperlordosis	22947	DUX4L1	ORPHA:269
HP:0003307	Hyperlordosis	1789	DNMT3B	ORPHA:269
HP:0003307	Hyperlordosis	2483	FRG1	ORPHA:269
HP:0003307	Hyperlordosis	23347	SMCHD1	ORPHA:269
HP:0003307	Hyperlordosis	100288687	DUX4	ORPHA:269
HP:0003307	Hyperlordosis	8291	DYSF	ORPHA:268
HP:0003307	Hyperlordosis	825	CAPN3	ORPHA:267
HP:0003307	Hyperlordosis	825	CAPN3	OMIM:618129
HP:0003307	Hyperlordosis	10324	KLHL41	ORPHA:171436
HP:0003307	Hyperlordosis	56203	LMOD3	ORPHA:171436
HP:0003307	Hyperlordosis	613	BCR	ORPHA:261330
HP:0003307	Hyperlordosis	1399	CRKL	ORPHA:261330
HP:0003307	Hyperlordosis	5594	MAPK1	ORPHA:261330
HP:0003307	Hyperlordosis	55209	SETD5	OMIM:615761
HP:0003307	Hyperlordosis	55790	CSGALNACT1	OMIM:618870
HP:0003307	Hyperlordosis	1278	COL1A2	OMIM:617821
HP:0003307	Hyperlordosis	1763	DNA2	ORPHA:352470
HP:0003307	Hyperlordosis	1763	DNA2	OMIM:615156
HP:0003307	Hyperlordosis	5818	NECTIN1	ORPHA:3253
HP:0003307	Hyperlordosis	3897	L1CAM	OMIM:303350
HP:0003307	Hyperlordosis	3908	LAMA2	ORPHA:258
HP:0003307	Hyperlordosis	6335	SCN9A	ORPHA:970
HP:0003307	Hyperlordosis	65125	WNK1	ORPHA:970
HP:0003307	Hyperlordosis	54463	RETREG1	ORPHA:970
HP:0003307	Hyperlordosis	547	KIF1A	ORPHA:970
HP:0003307	Hyperlordosis	84572	GNPTG	OMIM:252605
HP:0003307	Hyperlordosis	10940	POP1	OMIM:617396
HP:0003307	Hyperlordosis	153642	ARSK	OMIM:619698
HP:0003307	Hyperlordosis	284058	KANSL1	ORPHA:363958
HP:0003307	Hyperlordosis	284058	KANSL1	ORPHA:363965
HP:0003307	Hyperlordosis	55906	ZC4H2	OMIM:314580
HP:0003307	Hyperlordosis	84068	SLC10A7	OMIM:618363
HP:0003307	Hyperlordosis	7020	TFAP2A	OMIM:113620
HP:0003307	Hyperlordosis	80324	PUS1	OMIM:600462
HP:0003307	Hyperlordosis	4633	MYL2	ORPHA:2020
HP:0003307	Hyperlordosis	3679	ITGA7	ORPHA:2020
HP:0003307	Hyperlordosis	9200	HACD1	ORPHA:2020
HP:0003307	Hyperlordosis	51776	MAP3K20	ORPHA:2020
HP:0003307	Hyperlordosis	51776	MAP3K20	OMIM:617760
HP:0003307	Hyperlordosis	4763	NF1	ORPHA:363700
HP:0003307	Hyperlordosis	9451	EIF2AK3	OMIM:226980
HP:0003307	Hyperlordosis	3188	HNRNPH2	OMIM:300986
HP:0003307	Hyperlordosis	2720	GLB1	OMIM:253010
HP:0003307	Hyperlordosis	4854	NOTCH3	ORPHA:2789
HP:0003307	Hyperlordosis	57449	PLEKHG5	OMIM:611067
HP:0003307	Hyperlordosis	2783	GNB2	OMIM:619503
HP:0003307	Hyperlordosis	3930	LBR	OMIM:618019
HP:0003307	Hyperlordosis	2218	FKTN	OMIM:611588
HP:0003307	Hyperlordosis	139285	AMER1	ORPHA:2780
HP:0003307	Hyperlordosis	23299	BICD2	ORPHA:363454
HP:0003307	Hyperlordosis	23299	BICD2	OMIM:615290
HP:0003307	Hyperlordosis	8493	PPM1D	OMIM:617450
HP:0003307	Hyperlordosis	55699	IARS2	OMIM:616007
HP:0003307	Hyperlordosis	2588	GALNS	OMIM:253000
HP:0003307	Hyperlordosis	6804	STX1A	ORPHA:904
HP:0003307	Hyperlordosis	7461	CLIP2	ORPHA:904
HP:0003307	Hyperlordosis	84277	DNAJC30	ORPHA:904
HP:0003307	Hyperlordosis	8468	FKBP6	ORPHA:904
HP:0003307	Hyperlordosis	5982	RFC2	ORPHA:904
HP:0003307	Hyperlordosis	2969	GTF2I	ORPHA:904
HP:0003307	Hyperlordosis	3984	LIMK1	ORPHA:904
HP:0003307	Hyperlordosis	9569	GTF2IRD1	ORPHA:904
HP:0003307	Hyperlordosis	155382	VPS37D	ORPHA:904
HP:0003307	Hyperlordosis	155368	METTL27	ORPHA:904
HP:0003307	Hyperlordosis	114049	BUD23	ORPHA:904
HP:0003307	Hyperlordosis	7458	EIF4H	ORPHA:904
HP:0003307	Hyperlordosis	84163	GTF2IRD2	ORPHA:904
HP:0003307	Hyperlordosis	9275	BCL7B	ORPHA:904
HP:0003307	Hyperlordosis	26608	TBL2	ORPHA:904
HP:0003307	Hyperlordosis	653361	NCF1	ORPHA:904
HP:0003307	Hyperlordosis	135886	TMEM270	ORPHA:904
HP:0003307	Hyperlordosis	51085	MLXIPL	ORPHA:904
HP:0003307	Hyperlordosis	9031	BAZ1B	ORPHA:904
HP:0003307	Hyperlordosis	2006	ELN	ORPHA:904
HP:0003307	Hyperlordosis	6329	SCN4A	ORPHA:99735
HP:0003307	Hyperlordosis	6329	SCN4A	OMIM:614198
HP:0003307	Hyperlordosis	6442	SGCA	ORPHA:62
HP:0003307	Hyperlordosis	7040	TGFB1	ORPHA:1328
HP:0003307	Hyperlordosis	5293	PIK3CD	ORPHA:221139
HP:0003307	Hyperlordosis	90417	KNSTRN	ORPHA:221139
HP:0003307	Hyperlordosis	1785	DNM2	OMIM:160150
HP:0003307	Hyperlordosis	64419	MTMR14	OMIM:160150
HP:0003307	Hyperlordosis	6911	TBX6	ORPHA:1797
HP:0003307	Hyperlordosis	8838	CCN6	ORPHA:1159
HP:0003307	Hyperlordosis	2273	FHL1	OMIM:300718
HP:0003307	Hyperlordosis	2273	FHL1	ORPHA:98863
HP:0003307	Hyperlordosis	84919	PPP1R15B	OMIM:616817
HP:0003307	Hyperlordosis	8292	COLQ	OMIM:603034
HP:0003307	Hyperlordosis	124583	CANT1	OMIM:251450
HP:0003307	Hyperlordosis	3178	HNRNPA1	ORPHA:52430
HP:0003307	Hyperlordosis	3181	HNRNPA2B1	ORPHA:52430
HP:0003307	Hyperlordosis	7030	TFE3	OMIM:301066
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:157973
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:98855
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:98853
HP:0003307	Hyperlordosis	23162	MAPK8IP3	OMIM:618443
HP:0003307	Hyperlordosis	89970	RSPRY1	ORPHA:457395
HP:0003307	Hyperlordosis	22930	RAB3GAP1	ORPHA:1387
HP:0003307	Hyperlordosis	10584	COLEC10	ORPHA:293843
HP:0003307	Hyperlordosis	5648	MASP1	ORPHA:293843
HP:0003307	Hyperlordosis	78989	COLEC11	ORPHA:293843
HP:0003307	Hyperlordosis	2317	FLNB	OMIM:272460
HP:0003307	Hyperlordosis	2010	EMD	ORPHA:98863
HP:0003307	Hyperlordosis	5286	PIK3C2A	ORPHA:557003
HP:0003307	Hyperlordosis	1513	CTSK	ORPHA:763
HP:0003307	Hyperlordosis	83452	RAB33B	OMIM:615222
HP:0003307	Hyperlordosis	9427	ECEL1	OMIM:615065
HP:0003307	Hyperlordosis	51763	INPP5K	OMIM:617404
HP:0003307	Hyperlordosis	7227	TRPS1	OMIM:190350
HP:0003307	Hyperlordosis	7227	TRPS1	ORPHA:77258
HP:0003307	Hyperlordosis	284119	CAVIN1	OMIM:613327
HP:0003307	Hyperlordosis	1861	TOR1A	OMIM:128100
HP:0003307	Hyperlordosis	79188	TMEM43	ORPHA:98853
HP:0003307	Hyperlordosis	23345	SYNE1	ORPHA:98853
HP:0003307	Hyperlordosis	23224	SYNE2	ORPHA:98853
HP:0003307	Hyperlordosis	4322	MMP13	ORPHA:2501
HP:0003308	Cervical subluxation	2720	GLB1	OMIM:253010
HP:0003308	Cervical subluxation	2588	GALNS	OMIM:253000
HP:0003308	Cervical subluxation	6023	RMRP	OMIM:607095
HP:0003308	Cervical subluxation	4921	DDR2	OMIM:271665
HP:0003308	Cervical subluxation	3425	IDUA	OMIM:607014
HP:0003308	Cervical subluxation	8567	MADD	OMIM:619004
HP:0003308	Cervical subluxation	1280	COL2A1	OMIM:184250
HP:0003308	Cervical subluxation	415	ARSL	ORPHA:79345
HP:0003308	Cervical subluxation	4313	MMP2	OMIM:259600
HP:0003308	Cervical subluxation	2317	FLNB	OMIM:272460
HP:0003309	Ovoid thoracolumbar vertebrae	6448	SGSH	OMIM:252900
HP:0003309	Ovoid thoracolumbar vertebrae	138050	HGSNAT	OMIM:252930
HP:0003309	Ovoid thoracolumbar vertebrae	4669	NAGLU	OMIM:252920
HP:0003309	Ovoid thoracolumbar vertebrae	2799	GNS	OMIM:252940
HP:0003310	Abnormality of the odontoid process	84667	HES7	OMIM:613686
HP:0003310	Abnormality of the odontoid process	4322	MMP13	OMIM:602111
HP:0003310	Abnormality of the odontoid process	10683	DLL3	OMIM:277300
HP:0003310	Abnormality of the odontoid process	145873	MESP2	OMIM:277300
HP:0003310	Abnormality of the odontoid process	1280	COL2A1	OMIM:184255
HP:0003310	Abnormality of the odontoid process	1280	COL2A1	OMIM:184250
HP:0003310	Abnormality of the odontoid process	1280	COL2A1	ORPHA:485
HP:0003310	Abnormality of the odontoid process	1280	COL2A1	OMIM:183900
HP:0003310	Abnormality of the odontoid process	2335	FN1	OMIM:184255
HP:0003310	Abnormality of the odontoid process	1311	COMP	ORPHA:750
HP:0003310	Abnormality of the odontoid process	1311	COMP	OMIM:177170
HP:0003310	Abnormality of the odontoid process	2137	EXTL3	ORPHA:508533
HP:0003310	Abnormality of the odontoid process	54808	DYM	OMIM:223800
HP:0003310	Abnormality of the odontoid process	54808	DYM	OMIM:607326
HP:0003310	Abnormality of the odontoid process	54808	DYM	ORPHA:239
HP:0003310	Abnormality of the odontoid process	9361	LONP1	OMIM:600373
HP:0003310	Abnormality of the odontoid process	4921	DDR2	OMIM:271665
HP:0003310	Abnormality of the odontoid process	59341	TRPV4	OMIM:184252
HP:0003310	Abnormality of the odontoid process	59341	TRPV4	ORPHA:93314
HP:0003310	Abnormality of the odontoid process	59341	TRPV4	OMIM:156530
HP:0003310	Abnormality of the odontoid process	6399	TRAPPC2	ORPHA:93284
HP:0003310	Abnormality of the odontoid process	4784	NFIX	OMIM:602535
HP:0003310	Abnormality of the odontoid process	2245	FGD1	OMIM:305400
HP:0003310	Abnormality of the odontoid process	9131	AIFM1	OMIM:300232
HP:0003310	Abnormality of the odontoid process	55699	IARS2	OMIM:616007
HP:0003310	Abnormality of the odontoid process	2588	GALNS	OMIM:253000
HP:0003310	Abnormality of the odontoid process	2990	GUSB	OMIM:253220
HP:0003310	Abnormality of the odontoid process	6023	RMRP	OMIM:250250
HP:0003310	Abnormality of the odontoid process	2317	FLNB	OMIM:272460
HP:0003310	Abnormality of the odontoid process	411	ARSB	OMIM:253200
HP:0003310	Abnormality of the odontoid process	25839	COG4	OMIM:618150
HP:0003310	Abnormality of the odontoid process	25839	COG4	ORPHA:85172
HP:0003310	Abnormality of the odontoid process	3955	LFNG	OMIM:609813
HP:0003310	Abnormality of the odontoid process	3636	INPPL1	OMIM:258480
HP:0003310	Abnormality of the odontoid process	633	BGN	OMIM:300106
HP:0003310	Abnormality of the odontoid process	9451	EIF2AK3	OMIM:226980
HP:0003310	Abnormality of the odontoid process	83452	RAB33B	OMIM:615222
HP:0003310	Abnormality of the odontoid process	2720	GLB1	OMIM:253010
HP:0003310	Abnormality of the odontoid process	3425	IDUA	OMIM:607014
HP:0003310	Abnormality of the odontoid process	79158	GNPTAB	OMIM:252500
HP:0003310	Abnormality of the odontoid process	22943	DKK1	ORPHA:268882
HP:0003310	Abnormality of the odontoid process	2316	FLNA	OMIM:305620
HP:0003310	Abnormality of the odontoid process	64802	NMNAT1	OMIM:619260
HP:0003310	Abnormality of the odontoid process	5832	ALDH18A1	OMIM:616603
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:184255
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:184250
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	ORPHA:485
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:183900
HP:0003311	Hypoplasia of the odontoid process	2335	FN1	OMIM:184255
HP:0003311	Hypoplasia of the odontoid process	1311	COMP	ORPHA:750
HP:0003311	Hypoplasia of the odontoid process	1311	COMP	OMIM:177170
HP:0003311	Hypoplasia of the odontoid process	2137	EXTL3	ORPHA:508533
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	OMIM:223800
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	OMIM:607326
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	ORPHA:239
HP:0003311	Hypoplasia of the odontoid process	9361	LONP1	OMIM:600373
HP:0003311	Hypoplasia of the odontoid process	4921	DDR2	OMIM:271665
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	OMIM:184252
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	ORPHA:93314
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	OMIM:156530
HP:0003311	Hypoplasia of the odontoid process	6399	TRAPPC2	ORPHA:93284
HP:0003311	Hypoplasia of the odontoid process	4784	NFIX	OMIM:602535
HP:0003311	Hypoplasia of the odontoid process	2245	FGD1	OMIM:305400
HP:0003311	Hypoplasia of the odontoid process	9131	AIFM1	OMIM:300232
HP:0003311	Hypoplasia of the odontoid process	55699	IARS2	OMIM:616007
HP:0003311	Hypoplasia of the odontoid process	2588	GALNS	OMIM:253000
HP:0003311	Hypoplasia of the odontoid process	2990	GUSB	OMIM:253220
HP:0003311	Hypoplasia of the odontoid process	6023	RMRP	OMIM:250250
HP:0003311	Hypoplasia of the odontoid process	2317	FLNB	OMIM:272460
HP:0003311	Hypoplasia of the odontoid process	411	ARSB	OMIM:253200
HP:0003311	Hypoplasia of the odontoid process	25839	COG4	OMIM:618150
HP:0003311	Hypoplasia of the odontoid process	25839	COG4	ORPHA:85172
HP:0003311	Hypoplasia of the odontoid process	3955	LFNG	OMIM:609813
HP:0003311	Hypoplasia of the odontoid process	3636	INPPL1	OMIM:258480
HP:0003311	Hypoplasia of the odontoid process	633	BGN	OMIM:300106
HP:0003311	Hypoplasia of the odontoid process	9451	EIF2AK3	OMIM:226980
HP:0003311	Hypoplasia of the odontoid process	83452	RAB33B	OMIM:615222
HP:0003311	Hypoplasia of the odontoid process	2720	GLB1	OMIM:253010
HP:0003311	Hypoplasia of the odontoid process	3425	IDUA	OMIM:607014
HP:0003311	Hypoplasia of the odontoid process	79158	GNPTAB	OMIM:252500
HP:0003312	Abnormal form of the vertebral bodies	176	ACAN	ORPHA:93283
HP:0003312	Abnormal form of the vertebral bodies	176	ACAN	OMIM:608361
HP:0003312	Abnormal form of the vertebral bodies	176	ACAN	OMIM:612813
HP:0003312	Abnormal form of the vertebral bodies	6399	TRAPPC2	ORPHA:93284
HP:0003312	Abnormal form of the vertebral bodies	6399	TRAPPC2	OMIM:313400
HP:0003312	Abnormal form of the vertebral bodies	9131	AIFM1	OMIM:300232
HP:0003312	Abnormal form of the vertebral bodies	4750	NEK1	OMIM:263520
HP:0003312	Abnormal form of the vertebral bodies	755	CFAP410	OMIM:602271
HP:0003312	Abnormal form of the vertebral bodies	538	ATP7A	OMIM:304150
HP:0003312	Abnormal form of the vertebral bodies	538	ATP7A	ORPHA:198
HP:0003312	Abnormal form of the vertebral bodies	5352	PLOD2	OMIM:609220
HP:0003312	Abnormal form of the vertebral bodies	5352	PLOD2	ORPHA:2771
HP:0003312	Abnormal form of the vertebral bodies	249	ALPL	OMIM:241500
HP:0003312	Abnormal form of the vertebral bodies	2317	FLNB	ORPHA:1190
HP:0003312	Abnormal form of the vertebral bodies	79639	TMEM53	OMIM:619727
HP:0003312	Abnormal form of the vertebral bodies	64175	P3H1	OMIM:610915
HP:0003312	Abnormal form of the vertebral bodies	1300	COL10A1	ORPHA:174
HP:0003312	Abnormal form of the vertebral bodies	1300	COL10A1	OMIM:156500
HP:0003312	Abnormal form of the vertebral bodies	54	ACP5	OMIM:607944
HP:0003312	Abnormal form of the vertebral bodies	54	ACP5	ORPHA:1855
HP:0003312	Abnormal form of the vertebral bodies	5745	PTH1R	ORPHA:296
HP:0003312	Abnormal form of the vertebral bodies	5745	PTH1R	ORPHA:50945
HP:0003312	Abnormal form of the vertebral bodies	3418	IDH2	ORPHA:296
HP:0003312	Abnormal form of the vertebral bodies	3417	IDH1	ORPHA:296
HP:0003312	Abnormal form of the vertebral bodies	3417	IDH1	ORPHA:99646
HP:0003312	Abnormal form of the vertebral bodies	60561	RINT1	OMIM:618641
HP:0003312	Abnormal form of the vertebral bodies	90993	CREB3L1	OMIM:616229
HP:0003312	Abnormal form of the vertebral bodies	649	BMP1	OMIM:614856
HP:0003312	Abnormal form of the vertebral bodies	64132	XYLT2	ORPHA:85194
HP:0003312	Abnormal form of the vertebral bodies	64132	XYLT2	OMIM:605822
HP:0003312	Abnormal form of the vertebral bodies	5593	PRKG2	OMIM:619638
HP:0003312	Abnormal form of the vertebral bodies	5593	PRKG2	OMIM:619636
HP:0003312	Abnormal form of the vertebral bodies	10013	HDAC6	ORPHA:163966
HP:0003312	Abnormal form of the vertebral bodies	10013	HDAC6	OMIM:300863
HP:0003312	Abnormal form of the vertebral bodies	4952	OCRL	OMIM:309000
HP:0003312	Abnormal form of the vertebral bodies	4952	OCRL	ORPHA:534
HP:0003312	Abnormal form of the vertebral bodies	4089	SMAD4	OMIM:139210
HP:0003312	Abnormal form of the vertebral bodies	4089	SMAD4	ORPHA:2588
HP:0003312	Abnormal form of the vertebral bodies	9321	TRIP11	OMIM:184260
HP:0003312	Abnormal form of the vertebral bodies	9321	TRIP11	ORPHA:166272
HP:0003312	Abnormal form of the vertebral bodies	50485	SMARCAL1	ORPHA:1830
HP:0003312	Abnormal form of the vertebral bodies	50485	SMARCAL1	OMIM:242900
HP:0003312	Abnormal form of the vertebral bodies	3911	LAMA5	OMIM:620076
HP:0003312	Abnormal form of the vertebral bodies	124583	CANT1	OMIM:251450
HP:0003312	Abnormal form of the vertebral bodies	124583	CANT1	OMIM:617719
HP:0003312	Abnormal form of the vertebral bodies	5373	PMM2	ORPHA:79318
HP:0003312	Abnormal form of the vertebral bodies	3339	HSPG2	OMIM:255800
HP:0003312	Abnormal form of the vertebral bodies	3339	HSPG2	ORPHA:800
HP:0003312	Abnormal form of the vertebral bodies	387733	IFITM5	OMIM:610967
HP:0003312	Abnormal form of the vertebral bodies	91252	SLC39A13	ORPHA:157965
HP:0003312	Abnormal form of the vertebral bodies	91252	SLC39A13	OMIM:612350
HP:0003312	Abnormal form of the vertebral bodies	1297	COL9A1	ORPHA:250984
HP:0003312	Abnormal form of the vertebral bodies	1298	COL9A2	ORPHA:250984
HP:0003312	Abnormal form of the vertebral bodies	1299	COL9A3	ORPHA:250984
HP:0003312	Abnormal form of the vertebral bodies	84695	LOXL3	ORPHA:250984
HP:0003312	Abnormal form of the vertebral bodies	2879	GPX4	OMIM:250220
HP:0003312	Abnormal form of the vertebral bodies	2879	GPX4	ORPHA:93317
HP:0003312	Abnormal form of the vertebral bodies	4921	DDR2	OMIM:271665
HP:0003312	Abnormal form of the vertebral bodies	5351	PLOD1	OMIM:225400
HP:0003312	Abnormal form of the vertebral bodies	2335	FN1	ORPHA:93315
HP:0003312	Abnormal form of the vertebral bodies	89970	RSPRY1	OMIM:616723
HP:0003312	Abnormal form of the vertebral bodies	89970	RSPRY1	ORPHA:457395
HP:0003312	Abnormal form of the vertebral bodies	1436	CSF1R	OMIM:618476
HP:0003312	Abnormal form of the vertebral bodies	153642	ARSK	OMIM:619698
HP:0003312	Abnormal form of the vertebral bodies	64131	XYLT1	OMIM:615777
HP:0003312	Abnormal form of the vertebral bodies	6678	SPARC	OMIM:616507
HP:0003312	Abnormal form of the vertebral bodies	9451	EIF2AK3	OMIM:226980
HP:0003312	Abnormal form of the vertebral bodies	8985	PLOD3	OMIM:612394
HP:0003312	Abnormal form of the vertebral bodies	175	AGA	OMIM:208400
HP:0003312	Abnormal form of the vertebral bodies	6424	SFRP4	OMIM:265900
HP:0003312	Abnormal form of the vertebral bodies	2588	GALNS	OMIM:253000
HP:0003312	Abnormal form of the vertebral bodies	126792	B3GALT6	ORPHA:93359
HP:0003312	Abnormal form of the vertebral bodies	126792	B3GALT6	OMIM:271640
HP:0003312	Abnormal form of the vertebral bodies	126792	B3GALT6	ORPHA:536467
HP:0003312	Abnormal form of the vertebral bodies	126792	B3GALT6	OMIM:615349
HP:0003312	Abnormal form of the vertebral bodies	55325	UFSP2	OMIM:617974
HP:0003312	Abnormal form of the vertebral bodies	29957	SLC25A24	OMIM:612289
HP:0003312	Abnormal form of the vertebral bodies	9060	PAPSS2	OMIM:612847
HP:0003312	Abnormal form of the vertebral bodies	4148	MATN3	OMIM:608728
HP:0003312	Abnormal form of the vertebral bodies	25839	COG4	OMIM:618150
HP:0003312	Abnormal form of the vertebral bodies	25839	COG4	ORPHA:85172
HP:0003312	Abnormal form of the vertebral bodies	112752	IFT43	OMIM:617866
HP:0003312	Abnormal form of the vertebral bodies	202018	TAPT1	OMIM:616897
HP:0003312	Abnormal form of the vertebral bodies	28957	MRPS28	OMIM:618958
HP:0003312	Abnormal form of the vertebral bodies	11014	KDELR2	OMIM:619131
HP:0003312	Abnormal form of the vertebral bodies	100	ADA	OMIM:102700
HP:0003312	Abnormal form of the vertebral bodies	2990	GUSB	OMIM:253220
HP:0003312	Abnormal form of the vertebral bodies	6137	RPL13	OMIM:618728
HP:0003312	Abnormal form of the vertebral bodies	10312	TCIRG1	ORPHA:1782
HP:0003312	Abnormal form of the vertebral bodies	55315	SLC29A3	ORPHA:1782
HP:0003312	Abnormal form of the vertebral bodies	8792	TNFRSF11A	ORPHA:1782
HP:0003312	Abnormal form of the vertebral bodies	54187	NANS	OMIM:610442
HP:0003312	Abnormal form of the vertebral bodies	5479	PPIB	OMIM:259440
HP:0003312	Abnormal form of the vertebral bodies	166929	SGMS2	OMIM:126550
HP:0003312	Abnormal form of the vertebral bodies	26229	B3GAT3	OMIM:245600
HP:0003312	Abnormal form of the vertebral bodies	860	RUNX2	OMIM:156510
HP:0003312	Abnormal form of the vertebral bodies	375056	MIA3	OMIM:619269
HP:0003312	Abnormal form of the vertebral bodies	83452	RAB33B	OMIM:615222
HP:0003312	Abnormal form of the vertebral bodies	7471	WNT1	OMIM:615220
HP:0003312	Abnormal form of the vertebral bodies	25871	NEPRO	OMIM:618853
HP:0003312	Abnormal form of the vertebral bodies	871	SERPINH1	OMIM:613848
HP:0003312	Abnormal form of the vertebral bodies	2737	GLI3	ORPHA:672
HP:0003312	Abnormal form of the vertebral bodies	2737	GLI3	OMIM:146510
HP:0003312	Abnormal form of the vertebral bodies	2737	GLI3	ORPHA:93322
HP:0003312	Abnormal form of the vertebral bodies	9791	PTDSS1	OMIM:151050
HP:0003312	Abnormal form of the vertebral bodies	5447	POR	OMIM:201750
HP:0003312	Abnormal form of the vertebral bodies	6909	TBX2	OMIM:618223
HP:0003312	Abnormal form of the vertebral bodies	8558	CDK10	OMIM:617694
HP:0003312	Abnormal form of the vertebral bodies	145173	B3GLCT	OMIM:261540
HP:0003312	Abnormal form of the vertebral bodies	5885	RAD21	OMIM:614701
HP:0003312	Abnormal form of the vertebral bodies	6650	CAPN15	OMIM:619318
HP:0003312	Abnormal form of the vertebral bodies	10992	SF3B2	OMIM:164210
HP:0003312	Abnormal form of the vertebral bodies	54499	TMCO1	OMIM:213980
HP:0003312	Abnormal form of the vertebral bodies	54499	TMCO1	ORPHA:1394
HP:0003312	Abnormal form of the vertebral bodies	546	ATRX	OMIM:301040
HP:0003312	Abnormal form of the vertebral bodies	526	ATP6V1B2	ORPHA:79500
HP:0003312	Abnormal form of the vertebral bodies	57465	TBC1D24	ORPHA:79500
HP:0003312	Abnormal form of the vertebral bodies	6651	SON	OMIM:617140
HP:0003312	Abnormal form of the vertebral bodies	6651	SON	ORPHA:500150
HP:0003312	Abnormal form of the vertebral bodies	4920	ROR2	OMIM:113000
HP:0003312	Abnormal form of the vertebral bodies	4920	ROR2	OMIM:268310
HP:0003312	Abnormal form of the vertebral bodies	8942	KYNU	OMIM:617661
HP:0003312	Abnormal form of the vertebral bodies	182	JAG1	OMIM:118450
HP:0003312	Abnormal form of the vertebral bodies	388015	RTL1	ORPHA:96334
HP:0003312	Abnormal form of the vertebral bodies	8788	DLK1	ORPHA:96334
HP:0003312	Abnormal form of the vertebral bodies	55384	MEG3	ORPHA:96334
HP:0003312	Abnormal form of the vertebral bodies	55636	CHD7	ORPHA:138
HP:0003312	Abnormal form of the vertebral bodies	55636	CHD7	OMIM:214800
HP:0003312	Abnormal form of the vertebral bodies	9723	SEMA3E	ORPHA:138
HP:0003312	Abnormal form of the vertebral bodies	5727	PTCH1	ORPHA:377
HP:0003312	Abnormal form of the vertebral bodies	5727	PTCH1	OMIM:109400
HP:0003312	Abnormal form of the vertebral bodies	8643	PTCH2	ORPHA:377
HP:0003312	Abnormal form of the vertebral bodies	6657	SOX2	ORPHA:77298
HP:0003312	Abnormal form of the vertebral bodies	6657	SOX2	OMIM:206900
HP:0003312	Abnormal form of the vertebral bodies	9897	WASHC5	OMIM:220210
HP:0003312	Abnormal form of the vertebral bodies	9897	WASHC5	ORPHA:7
HP:0003312	Abnormal form of the vertebral bodies	55777	MBD5	OMIM:156200
HP:0003312	Abnormal form of the vertebral bodies	4621	MYH3	OMIM:178110
HP:0003312	Abnormal form of the vertebral bodies	4998	ORC1	OMIM:224690
HP:0003312	Abnormal form of the vertebral bodies	51360	MBTPS2	ORPHA:85284
HP:0003312	Abnormal form of the vertebral bodies	7476	WNT7A	OMIM:276820
HP:0003312	Abnormal form of the vertebral bodies	28952	CCDC22	ORPHA:7
HP:0003312	Abnormal form of the vertebral bodies	10682	EBP	OMIM:302960
HP:0003312	Abnormal form of the vertebral bodies	26175	LYSET	OMIM:619345
HP:0003312	Abnormal form of the vertebral bodies	22827	PUF60	OMIM:615583
HP:0003312	Abnormal form of the vertebral bodies	8517	IKBKG	OMIM:308300
HP:0003312	Abnormal form of the vertebral bodies	4990	SIX6	OMIM:206900
HP:0003312	Abnormal form of the vertebral bodies	6911	TBX6	OMIM:122600
HP:0003312	Abnormal form of the vertebral bodies	3549	IHH	ORPHA:63446
HP:0003312	Abnormal form of the vertebral bodies	3549	IHH	OMIM:607778
HP:0003312	Abnormal form of the vertebral bodies	4052	LTBP1	OMIM:619451
HP:0003312	Abnormal form of the vertebral bodies	3977	LIFR	OMIM:601559
HP:0003312	Abnormal form of the vertebral bodies	51119	SBDS	OMIM:260400
HP:0003312	Abnormal form of the vertebral bodies	134218	DNAJC21	OMIM:260400
HP:0003312	Abnormal form of the vertebral bodies	6729	SRP54	OMIM:260400
HP:0003312	Abnormal form of the vertebral bodies	89910	UBE3B	OMIM:244450
HP:0003312	Abnormal form of the vertebral bodies	84068	SLC10A7	OMIM:618363
HP:0003312	Abnormal form of the vertebral bodies	8443	GNPAT	OMIM:222765
HP:0003312	Abnormal form of the vertebral bodies	6448	SGSH	OMIM:252900
HP:0003312	Abnormal form of the vertebral bodies	138050	HGSNAT	OMIM:252930
HP:0003312	Abnormal form of the vertebral bodies	4669	NAGLU	OMIM:252920
HP:0003312	Abnormal form of the vertebral bodies	2799	GNS	OMIM:252940
HP:0003312	Abnormal form of the vertebral bodies	7291	TWIST1	ORPHA:794
HP:0003312	Abnormal form of the vertebral bodies	2263	FGFR2	ORPHA:794
HP:0003312	Abnormal form of the vertebral bodies	2261	FGFR3	ORPHA:794
HP:0003312	Abnormal form of the vertebral bodies	2261	FGFR3	ORPHA:429
HP:0003312	Abnormal form of the vertebral bodies	2261	FGFR3	ORPHA:93262
HP:0003312	Abnormal form of the vertebral bodies	5573	PRKAR1A	ORPHA:950
HP:0003312	Abnormal form of the vertebral bodies	5144	PDE4D	ORPHA:950
HP:0003312	Abnormal form of the vertebral bodies	7421	VDR	ORPHA:93160
HP:0003312	Abnormal form of the vertebral bodies	9871	SEC24D	ORPHA:2050
HP:0003312	Abnormal form of the vertebral bodies	5034	P4HB	ORPHA:2050
HP:0003312	Abnormal form of the vertebral bodies	2733	GLE1	ORPHA:1486
HP:0003312	Abnormal form of the vertebral bodies	3636	INPPL1	ORPHA:3144
HP:0003312	Abnormal form of the vertebral bodies	23169	SLC35D1	ORPHA:3144
HP:0003312	Abnormal form of the vertebral bodies	6916	TBXAS1	ORPHA:1802
HP:0003312	Abnormal form of the vertebral bodies	4758	NEU1	ORPHA:93399
HP:0003312	Abnormal form of the vertebral bodies	4758	NEU1	ORPHA:812
HP:0003312	Abnormal form of the vertebral bodies	8085	KMT2D	ORPHA:2322
HP:0003312	Abnormal form of the vertebral bodies	7403	KDM6A	ORPHA:2322
HP:0003312	Abnormal form of the vertebral bodies	100996717	NOTCH2NLC	ORPHA:2289
HP:0003312	Abnormal form of the vertebral bodies	2314	FLII	ORPHA:819
HP:0003312	Abnormal form of the vertebral bodies	23096	IQSEC2	ORPHA:819
HP:0003312	Abnormal form of the vertebral bodies	10743	RAI1	ORPHA:819
HP:0003312	Abnormal form of the vertebral bodies	10522	DEAF1	ORPHA:819
HP:0003312	Abnormal form of the vertebral bodies	1717	DHCR7	ORPHA:818
HP:0003312	Abnormal form of the vertebral bodies	4038	LRP4	ORPHA:3258
HP:0003312	Abnormal form of the vertebral bodies	324	APC	ORPHA:3258
HP:0003312	Abnormal form of the vertebral bodies	2187	FANCB	ORPHA:3412
HP:0003312	Abnormal form of the vertebral bodies	4041	LRP5	ORPHA:2790
HP:0003312	Abnormal form of the vertebral bodies	6023	RMRP	ORPHA:175
HP:0003312	Abnormal form of the vertebral bodies	9469	CHST3	ORPHA:263463
HP:0003312	Abnormal form of the vertebral bodies	134701	RIPPLY2	ORPHA:2311
HP:0003312	Abnormal form of the vertebral bodies	10683	DLL3	ORPHA:2311
HP:0003312	Abnormal form of the vertebral bodies	3955	LFNG	ORPHA:2311
HP:0003312	Abnormal form of the vertebral bodies	84667	HES7	ORPHA:2311
HP:0003312	Abnormal form of the vertebral bodies	145873	MESP2	ORPHA:2311
HP:0003312	Abnormal form of the vertebral bodies	64093	SMOC1	ORPHA:1106
HP:0003312	Abnormal form of the vertebral bodies	2697	GJA1	ORPHA:2710
HP:0003312	Abnormal form of the vertebral bodies	4313	MMP2	ORPHA:371428
HP:0003312	Abnormal form of the vertebral bodies	4323	MMP14	ORPHA:371428
HP:0003312	Abnormal form of the vertebral bodies	10815	CPLX1	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	10815	CPLX1	OMIM:194190
HP:0003312	Abnormal form of the vertebral bodies	54872	PIGG	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	7469	NELFA	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	1487	CTBP1	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	1487	CTBP1	OMIM:194190
HP:0003312	Abnormal form of the vertebral bodies	3954	LETM1	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	3954	LETM1	OMIM:194190
HP:0003312	Abnormal form of the vertebral bodies	7468	NSD2	ORPHA:280
HP:0003312	Abnormal form of the vertebral bodies	7468	NSD2	OMIM:194190
HP:0003312	Abnormal form of the vertebral bodies	4854	NOTCH3	ORPHA:2789
HP:0003312	Abnormal form of the vertebral bodies	1301	COL11A1	ORPHA:2021
HP:0003312	Abnormal form of the vertebral bodies	1302	COL11A2	ORPHA:2021
HP:0003312	Abnormal form of the vertebral bodies	53834	FGFRL1	OMIM:194190
HP:0003312	Abnormal form of the vertebral bodies	2313	FLI1	ORPHA:2308
HP:0003312	Abnormal form of the vertebral bodies	9361	LONP1	ORPHA:1458
HP:0003312	Abnormal form of the vertebral bodies	6885	MAP3K7	ORPHA:3238
HP:0003312	Abnormal form of the vertebral bodies	57167	SALL4	ORPHA:233
HP:0003312	Abnormal form of the vertebral bodies	9935	MAFB	ORPHA:233
HP:0003312	Abnormal form of the vertebral bodies	1123	CHN1	ORPHA:233
HP:0003312	Abnormal form of the vertebral bodies	1311	COMP	ORPHA:750
HP:0003312	Abnormal form of the vertebral bodies	79600	TCTN1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	79848	CSPP1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	51684	SUFU	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	54806	AHI1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	153241	CEP120	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	65250	CPLANE1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	91147	TMEM67	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	200894	ARL13B	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	9731	CEP104	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	219844	HYLS1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	23247	KATNIP	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	219854	TMEM218	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	54903	MKS1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	95681	CEP41	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	9786	KIAA0586	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	56623	INPP5E	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	79867	TCTN2	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	80776	B9D2	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	10464	PIBF1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	80210	ARMC9	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	23116	TOGARAM1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	25776	CBY1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	27077	B9D1	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	403	ARL3	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	65062	TMEM237	ORPHA:475
HP:0003312	Abnormal form of the vertebral bodies	6197	RPS6KA3	ORPHA:192
HP:0003312	Abnormal form of the vertebral bodies	1857	DVL3	ORPHA:3107
HP:0003312	Abnormal form of the vertebral bodies	7474	WNT5A	ORPHA:3107
HP:0003312	Abnormal form of the vertebral bodies	1855	DVL1	ORPHA:3107
HP:0003312	Abnormal form of the vertebral bodies	2535	FZD2	ORPHA:3107
HP:0003312	Abnormal form of the vertebral bodies	54361	WNT4	ORPHA:3109
HP:0003312	Abnormal form of the vertebral bodies	6804	STX1A	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	7461	CLIP2	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	84277	DNAJC30	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	8468	FKBP6	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	5982	RFC2	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	2969	GTF2I	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	3984	LIMK1	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	9569	GTF2IRD1	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	155382	VPS37D	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	155368	METTL27	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	114049	BUD23	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	7458	EIF4H	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	84163	GTF2IRD2	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	9275	BCL7B	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	26608	TBL2	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	653361	NCF1	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	135886	TMEM270	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	51085	MLXIPL	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	9031	BAZ1B	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	2006	ELN	ORPHA:904
HP:0003312	Abnormal form of the vertebral bodies	1836	SLC26A2	ORPHA:628
HP:0003312	Abnormal form of the vertebral bodies	5728	PTEN	ORPHA:744
HP:0003312	Abnormal form of the vertebral bodies	207	AKT1	ORPHA:744
HP:0003312	Abnormal form of the vertebral bodies	2260	FGFR1	ORPHA:2645
HP:0003312	Abnormal form of the vertebral bodies	26137	ZBTB20	ORPHA:3042
HP:0003312	Abnormal form of the vertebral bodies	59341	TRPV4	ORPHA:2635
HP:0003312	Abnormal form of the vertebral bodies	100151683	RNU4ATAC	ORPHA:2636
HP:0003312	Abnormal form of the vertebral bodies	92344	GORAB	ORPHA:2078
HP:0003312	Abnormal form of the vertebral bodies	5831	PYCR1	ORPHA:2078
HP:0003312	Abnormal form of the vertebral bodies	4882	NPR2	ORPHA:40
HP:0003312	Abnormal form of the vertebral bodies	3930	LBR	ORPHA:1426
HP:0003312	Abnormal form of the vertebral bodies	10262	SF3B4	ORPHA:1788
HP:0003312	Abnormal form of the vertebral bodies	60681	FKBP10	ORPHA:1149
HP:0003312	Abnormal form of the vertebral bodies	4352	MPL	ORPHA:3319
HP:0003312	Abnormal form of the vertebral bodies	7066	THPO	ORPHA:3319
HP:0003312	Abnormal form of the vertebral bodies	84168	ANTXR1	ORPHA:2067
HP:0003312	Abnormal form of the vertebral bodies	2200	FBN1	ORPHA:2462
HP:0003312	Abnormal form of the vertebral bodies	6497	SKI	ORPHA:2462
HP:0003312	Abnormal form of the vertebral bodies	63895	PIEZO2	ORPHA:2461
HP:0003312	Abnormal form of the vertebral bodies	6660	SOX5	ORPHA:313892
HP:0003312	Abnormal form of the vertebral bodies	2294	FOXF1	OMIM:265380
HP:0003312	Abnormal form of the vertebral bodies	10735	STAG2	OMIM:301043
HP:0003312	Abnormal form of the vertebral bodies	10526	IPO8	OMIM:619472
HP:0003312	Abnormal form of the vertebral bodies	579	NKX3-2	OMIM:613330
HP:0003312	Abnormal form of the vertebral bodies	415	ARSL	ORPHA:79345
HP:0003312	Abnormal form of the vertebral bodies	79087	ALG12	OMIM:607143
HP:0003312	Abnormal form of the vertebral bodies	55593	OTUD5	OMIM:301056
HP:0003312	Abnormal form of the vertebral bodies	23498	HAAO	OMIM:617660
HP:0003312	Abnormal form of the vertebral bodies	55790	CSGALNACT1	OMIM:618870
HP:0003312	Abnormal form of the vertebral bodies	51729	WBP11	OMIM:619227
HP:0003312	Abnormal form of the vertebral bodies	9382	COG1	OMIM:611209
HP:0003312	Abnormal form of the vertebral bodies	9382	COG1	ORPHA:263508
HP:0003312	Abnormal form of the vertebral bodies	6309	SC5D	OMIM:607330
HP:0003312	Abnormal form of the vertebral bodies	1277	COL1A1	OMIM:166220
HP:0003312	Abnormal form of the vertebral bodies	1277	COL1A1	OMIM:166200
HP:0003312	Abnormal form of the vertebral bodies	1278	COL1A2	OMIM:166220
HP:0003312	Abnormal form of the vertebral bodies	55699	IARS2	OMIM:616007
HP:0003312	Abnormal form of the vertebral bodies	8854	ALDH1A2	OMIM:620025
HP:0003312	Abnormal form of the vertebral bodies	5191	PEX7	OMIM:215100
HP:0003312	Abnormal form of the vertebral bodies	3313	HSPA9	OMIM:616854
HP:0003312	Abnormal form of the vertebral bodies	2517	FUCA1	OMIM:230000
HP:0003312	Abnormal form of the vertebral bodies	57647	DHX37	OMIM:618731
HP:0003312	Abnormal form of the vertebral bodies	2720	GLB1	ORPHA:79255
HP:0003312	Abnormal form of the vertebral bodies	79158	GNPTAB	OMIM:252500
HP:0003312	Abnormal form of the vertebral bodies	4763	NF1	ORPHA:97685
HP:0003312	Abnormal form of the vertebral bodies	2137	EXTL3	ORPHA:508533
HP:0003312	Abnormal form of the vertebral bodies	51025	PAM16	OMIM:613320
HP:0003312	Abnormal form of the vertebral bodies	5130	PCYT1A	OMIM:608940
HP:0003312	Abnormal form of the vertebral bodies	1280	COL2A1	OMIM:151210
HP:0003312	Abnormal form of the vertebral bodies	4322	MMP13	OMIM:602111
HP:0003312	Abnormal form of the vertebral bodies	4322	MMP13	ORPHA:93356
HP:0003312	Abnormal form of the vertebral bodies	5176	SERPINF1	OMIM:613982
HP:0003312	Abnormal form of the vertebral bodies	9820	CUL7	ORPHA:2616
HP:0003312	Abnormal form of the vertebral bodies	9820	CUL7	OMIM:273750
HP:0003312	Abnormal form of the vertebral bodies	23363	OBSL1	ORPHA:2616
HP:0003312	Abnormal form of the vertebral bodies	83987	CCDC8	ORPHA:2616
HP:0003312	Abnormal form of the vertebral bodies	83987	CCDC8	OMIM:614205
HP:0003312	Abnormal form of the vertebral bodies	84919	PPP1R15B	OMIM:616817
HP:0003312	Abnormal form of the vertebral bodies	4125	MAN2B1	OMIM:248500
HP:0003312	Abnormal form of the vertebral bodies	83737	ITCH	OMIM:613385
HP:0003312	Abnormal form of the vertebral bodies	633	BGN	OMIM:300106
HP:0003312	Abnormal form of the vertebral bodies	50964	SOST	OMIM:269500
HP:0003312	Abnormal form of the vertebral bodies	1758	DMP1	ORPHA:289176
HP:0003312	Abnormal form of the vertebral bodies	5167	ENPP1	ORPHA:289176
HP:0003312	Abnormal form of the vertebral bodies	8838	CCN6	OMIM:208230
HP:0003312	Abnormal form of the vertebral bodies	79705	LRRK1	OMIM:615198
HP:0003312	Abnormal form of the vertebral bodies	64802	NMNAT1	OMIM:619260
HP:0003312	Abnormal form of the vertebral bodies	55603	TENT5A	OMIM:617952
HP:0003312	Abnormal form of the vertebral bodies	4853	NOTCH2	OMIM:102500
HP:0003312	Abnormal form of the vertebral bodies	4853	NOTCH2	ORPHA:955
HP:0003312	Abnormal form of the vertebral bodies	9049	AIP	OMIM:219090
HP:0003312	Abnormal form of the vertebral bodies	9101	USP8	OMIM:219090
HP:0003312	Abnormal form of the vertebral bodies	875	CBS	OMIM:236200
HP:0003312	Abnormal form of the vertebral bodies	3425	IDUA	OMIM:607014
HP:0003312	Abnormal form of the vertebral bodies	9896	FIG4	OMIM:216340
HP:0003312	Abnormal form of the vertebral bodies	2316	FLNA	OMIM:309350
HP:0003312	Abnormal form of the vertebral bodies	285590	SH3PXD2B	OMIM:249420
HP:0003312	Abnormal form of the vertebral bodies	53335	BCL11A	OMIM:617101
HP:0003312	Abnormal form of the vertebral bodies	9842	PLEKHM1	ORPHA:210110
HP:0003312	Abnormal form of the vertebral bodies	90	ACVR1	OMIM:135100
HP:0003312	Abnormal form of the vertebral bodies	3764	KCNJ8	ORPHA:1517
HP:0003312	Abnormal form of the vertebral bodies	10060	ABCC9	ORPHA:1517
HP:0003312	Abnormal form of the vertebral bodies	10060	ABCC9	OMIM:239850
HP:0003312	Abnormal form of the vertebral bodies	1186	CLCN7	OMIM:166600
HP:0003312	Abnormal form of the vertebral bodies	54808	DYM	ORPHA:239
HP:0003312	Abnormal form of the vertebral bodies	55733	HHAT	OMIM:600092
HP:0003312	Abnormal form of the vertebral bodies	5331	PLCB3	OMIM:618961
HP:0003312	Abnormal form of the vertebral bodies	411	ARSB	OMIM:253200
HP:0003312	Abnormal form of the vertebral bodies	6223	RPS19	OMIM:105650
HP:0003312	Abnormal form of the vertebral bodies	29123	ANKRD11	OMIM:148050
HP:0003312	Abnormal form of the vertebral bodies	10606	PAICS	OMIM:619859
HP:0003312	Abnormal form of the vertebral bodies	1984	EIF5A	OMIM:619376
HP:0003312	Abnormal form of the vertebral bodies	10484	SEC23A	OMIM:607812
HP:0003312	Abnormal form of the vertebral bodies	10484	SEC23A	ORPHA:50814
HP:0003312	Abnormal form of the vertebral bodies	10940	POP1	OMIM:617396
HP:0003312	Abnormal form of the vertebral bodies	10236	HNRNPR	OMIM:620073
HP:0003312	Abnormal form of the vertebral bodies	65992	DDRGK1	OMIM:602557
HP:0003312	Abnormal form of the vertebral bodies	65992	DDRGK1	ORPHA:93352
HP:0003312	Abnormal form of the vertebral bodies	4054	LTBP3	OMIM:601216
HP:0003312	Abnormal form of the vertebral bodies	23233	EXOC6B	OMIM:618395
HP:0003312	Abnormal form of the vertebral bodies	4796	TONSL	OMIM:271510
HP:0003312	Abnormal form of the vertebral bodies	3835	KIF22	OMIM:603546
HP:0003312	Abnormal form of the vertebral bodies	3021	H3-3B	OMIM:619721
HP:0003312	Abnormal form of the vertebral bodies	11128	POLR3A	ORPHA:3455
HP:0003312	Abnormal form of the vertebral bodies	285362	SUMF1	OMIM:272200
HP:0003312	Abnormal form of the vertebral bodies	57216	VANGL2	OMIM:182940
HP:0003312	Abnormal form of the vertebral bodies	6347	CCL2	OMIM:182940
HP:0003312	Abnormal form of the vertebral bodies	81839	VANGL1	OMIM:182940
HP:0003312	Abnormal form of the vertebral bodies	6862	TBXT	OMIM:182940
HP:0003312	Abnormal form of the vertebral bodies	80199	FUZ	OMIM:182940
HP:0003312	Abnormal form of the vertebral bodies	6913	TBX15	OMIM:260660
HP:0003312	Abnormal form of the vertebral bodies	1593	CYP27A1	ORPHA:909
HP:0003312	Abnormal form of the vertebral bodies	1009	CDH11	ORPHA:1299
HP:0003312	Abnormal form of the vertebral bodies	1146	CHRNG	OMIM:265000
HP:0003312	Abnormal form of the vertebral bodies	2176	FANCC	OMIM:227645
HP:0003312	Abnormal form of the vertebral bodies	8567	MADD	OMIM:619004
HP:0003312	Abnormal form of the vertebral bodies	165	AEBP1	OMIM:618000
HP:0004568	Beaking of vertebral bodies	2720	GLB1	ORPHA:79255
HP:0004568	Beaking of vertebral bodies	79158	GNPTAB	OMIM:252500
HP:0004568	Beaking of vertebral bodies	4763	NF1	ORPHA:97685
HP:0004568	Beaking of vertebral bodies	1311	COMP	ORPHA:750
HP:0004568	Beaking of vertebral bodies	1311	COMP	OMIM:177170
HP:0004568	Beaking of vertebral bodies	54808	DYM	OMIM:223800
HP:0004568	Beaking of vertebral bodies	54808	DYM	OMIM:607326
HP:0004568	Beaking of vertebral bodies	54808	DYM	ORPHA:239
HP:0004568	Beaking of vertebral bodies	126792	B3GALT6	ORPHA:536467
HP:0004568	Beaking of vertebral bodies	126792	B3GALT6	ORPHA:93359
HP:0004568	Beaking of vertebral bodies	4882	NPR2	OMIM:602875
HP:0004568	Beaking of vertebral bodies	4882	NPR2	ORPHA:40
HP:0004568	Beaking of vertebral bodies	60561	RINT1	OMIM:618641
HP:0004568	Beaking of vertebral bodies	5331	PLCB3	OMIM:618961
HP:0004568	Beaking of vertebral bodies	153642	ARSK	OMIM:619698
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:616583
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:108300
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:604864
HP:0004568	Beaking of vertebral bodies	89970	RSPRY1	ORPHA:457395
HP:0004568	Beaking of vertebral bodies	23233	EXOC6B	ORPHA:93359
HP:0004568	Beaking of vertebral bodies	92344	GORAB	ORPHA:2078
HP:0004568	Beaking of vertebral bodies	92344	GORAB	OMIM:231070
HP:0004568	Beaking of vertebral bodies	5831	PYCR1	ORPHA:2078
HP:0004568	Beaking of vertebral bodies	5593	PRKG2	OMIM:619636
HP:0004568	Beaking of vertebral bodies	285590	SH3PXD2B	ORPHA:137834
HP:0004568	Beaking of vertebral bodies	138050	HGSNAT	OMIM:252930
HP:0004568	Beaking of vertebral bodies	54499	TMCO1	OMIM:213980
HP:0004568	Beaking of vertebral bodies	1302	COL11A2	OMIM:215150
HP:0004568	Beaking of vertebral bodies	2317	FLNB	OMIM:150250
HP:0004568	Beaking of vertebral bodies	5176	SERPINF1	OMIM:613982
HP:0004568	Beaking of vertebral bodies	8838	CCN6	ORPHA:1159
HP:0004568	Beaking of vertebral bodies	25871	NEPRO	OMIM:618853
HP:0004568	Beaking of vertebral bodies	2517	FUCA1	OMIM:230000
HP:0004568	Beaking of vertebral bodies	2588	GALNS	OMIM:253000
HP:0004568	Beaking of vertebral bodies	2990	GUSB	OMIM:253220
HP:0004568	Beaking of vertebral bodies	2990	GUSB	ORPHA:584
HP:0004568	Beaking of vertebral bodies	175	AGA	ORPHA:93
HP:0002808	Kyphosis	6399	TRAPPC2	ORPHA:93284
HP:0002808	Kyphosis	9131	AIFM1	OMIM:300232
HP:0002808	Kyphosis	6834	SURF1	OMIM:616684
HP:0002808	Kyphosis	8838	CCN6	OMIM:208230
HP:0002808	Kyphosis	11284	PNKP	ORPHA:459033
HP:0002808	Kyphosis	3008	H1-4	OMIM:617537
HP:0002808	Kyphosis	1788	DNMT3A	ORPHA:404443
HP:0002808	Kyphosis	4359	MPZ	OMIM:180800
HP:0002808	Kyphosis	4359	MPZ	ORPHA:3115
HP:0002808	Kyphosis	4359	MPZ	OMIM:118200
HP:0002808	Kyphosis	4359	MPZ	OMIM:145900
HP:0002808	Kyphosis	5376	PMP22	OMIM:180800
HP:0002808	Kyphosis	5376	PMP22	ORPHA:3115
HP:0002808	Kyphosis	5376	PMP22	ORPHA:101081
HP:0002808	Kyphosis	5376	PMP22	OMIM:118220
HP:0002808	Kyphosis	5376	PMP22	OMIM:145900
HP:0002808	Kyphosis	79581	SLC52A2	OMIM:614707
HP:0002808	Kyphosis	9401	RECQL4	OMIM:268400
HP:0002808	Kyphosis	4784	NFIX	ORPHA:447980
HP:0002808	Kyphosis	4784	NFIX	OMIM:602535
HP:0002808	Kyphosis	54332	GDAP1	OMIM:607831
HP:0002808	Kyphosis	54332	GDAP1	OMIM:214400
HP:0002808	Kyphosis	56704	JPH1	OMIM:607831
HP:0002808	Kyphosis	1278	COL1A2	ORPHA:230851
HP:0002808	Kyphosis	65993	MRPS34	OMIM:617664
HP:0002808	Kyphosis	1855	DVL1	OMIM:616331
HP:0002808	Kyphosis	64412	GZF1	OMIM:617662
HP:0002808	Kyphosis	2137	EXTL3	OMIM:617425
HP:0002808	Kyphosis	2201	FBN2	OMIM:121050
HP:0002808	Kyphosis	3149	HMGB3	OMIM:300915
HP:0002808	Kyphosis	10847	SRCAP	ORPHA:2044
HP:0002808	Kyphosis	10847	SRCAP	OMIM:136140
HP:0002808	Kyphosis	6662	SOX9	OMIM:114290
HP:0002808	Kyphosis	10978	CLP1	OMIM:615803
HP:0002808	Kyphosis	81846	SBF2	OMIM:604563
HP:0002808	Kyphosis	81846	SBF2	ORPHA:99956
HP:0002808	Kyphosis	9382	COG1	OMIM:611209
HP:0002808	Kyphosis	9382	COG1	ORPHA:263508
HP:0002808	Kyphosis	57231	SNX14	ORPHA:397709
HP:0002808	Kyphosis	57231	SNX14	OMIM:616354
HP:0002808	Kyphosis	1763	DNA2	OMIM:615807
HP:0002808	Kyphosis	54	ACP5	OMIM:607944
HP:0002808	Kyphosis	1280	COL2A1	OMIM:616583
HP:0002808	Kyphosis	1280	COL2A1	ORPHA:85198
HP:0002808	Kyphosis	1280	COL2A1	ORPHA:93316
HP:0002808	Kyphosis	9469	CHST3	OMIM:143095
HP:0002808	Kyphosis	9469	CHST3	ORPHA:263463
HP:0002808	Kyphosis	113189	CHST14	ORPHA:2953
HP:0002808	Kyphosis	29940	DSE	ORPHA:2953
HP:0002808	Kyphosis	23545	ATP6V0A2	ORPHA:2834
HP:0002808	Kyphosis	4853	NOTCH2	OMIM:102500
HP:0002808	Kyphosis	10381	TUBB3	ORPHA:300570
HP:0002808	Kyphosis	23184	MESD	OMIM:618644
HP:0002808	Kyphosis	55858	TMEM165	OMIM:614727
HP:0002808	Kyphosis	5191	PEX7	OMIM:215100
HP:0002808	Kyphosis	57190	SELENON	ORPHA:2020
HP:0002808	Kyphosis	58	ACTA1	ORPHA:2020
HP:0002808	Kyphosis	4633	MYL2	ORPHA:2020
HP:0002808	Kyphosis	3679	ITGA7	ORPHA:2020
HP:0002808	Kyphosis	7169	TPM2	ORPHA:2020
HP:0002808	Kyphosis	7169	TPM2	OMIM:609285
HP:0002808	Kyphosis	9200	HACD1	ORPHA:2020
HP:0002808	Kyphosis	7170	TPM3	ORPHA:2020
HP:0002808	Kyphosis	51776	MAP3K20	ORPHA:2020
HP:0002808	Kyphosis	4763	NF1	ORPHA:363700
HP:0002808	Kyphosis	1303	COL12A1	OMIM:616470
HP:0002808	Kyphosis	1303	COL12A1	ORPHA:536516
HP:0002808	Kyphosis	1193	CLIC2	ORPHA:324410
HP:0002808	Kyphosis	1193	CLIC2	OMIM:300886
HP:0002808	Kyphosis	10682	EBP	ORPHA:35173
HP:0002808	Kyphosis	10682	EBP	OMIM:302960
HP:0002808	Kyphosis	60	ACTB	OMIM:607371
HP:0002808	Kyphosis	649	BMP1	OMIM:614856
HP:0002808	Kyphosis	4598	MVK	OMIM:610377
HP:0002808	Kyphosis	165	AEBP1	ORPHA:536532
HP:0002808	Kyphosis	2074	ERCC6	OMIM:214150
HP:0002808	Kyphosis	6261	RYR1	ORPHA:597
HP:0002808	Kyphosis	6261	RYR1	OMIM:619542
HP:0002808	Kyphosis	5654	HTRA1	ORPHA:199354
HP:0002808	Kyphosis	59341	TRPV4	OMIM:184252
HP:0002808	Kyphosis	59341	TRPV4	OMIM:156530
HP:0002808	Kyphosis	59341	TRPV4	ORPHA:93304
HP:0002808	Kyphosis	55131	RBM28	ORPHA:157954
HP:0002808	Kyphosis	55131	RBM28	OMIM:612079
HP:0002808	Kyphosis	8260	NAA10	OMIM:309800
HP:0002808	Kyphosis	54880	BCOR	OMIM:309800
HP:0002808	Kyphosis	63895	PIEZO2	OMIM:114300
HP:0002808	Kyphosis	9255	AIMP1	OMIM:260600
HP:0002808	Kyphosis	3845	KRAS	OMIM:163200
HP:0002808	Kyphosis	4893	NRAS	OMIM:163200
HP:0002808	Kyphosis	3265	HRAS	OMIM:163200
HP:0002808	Kyphosis	6506	SLC1A2	OMIM:617105
HP:0002808	Kyphosis	84919	PPP1R15B	OMIM:616817
HP:0002808	Kyphosis	84919	PPP1R15B	ORPHA:391408
HP:0002808	Kyphosis	388015	RTL1	ORPHA:96334
HP:0002808	Kyphosis	8788	DLK1	ORPHA:96334
HP:0002808	Kyphosis	55384	MEG3	ORPHA:96334
HP:0002808	Kyphosis	2316	FLNA	OMIM:304120
HP:0002808	Kyphosis	2316	FLNA	OMIM:309350
HP:0002808	Kyphosis	51085	MLXIPL	OMIM:194050
HP:0002808	Kyphosis	2006	ELN	OMIM:194050
HP:0002808	Kyphosis	10667	FARS2	ORPHA:466722
HP:0002808	Kyphosis	11128	POLR3A	ORPHA:3455
HP:0002808	Kyphosis	10430	TMEM147	OMIM:620075
HP:0002808	Kyphosis	5373	PMM2	ORPHA:79318
HP:0002808	Kyphosis	339855	KY	ORPHA:496689
HP:0002808	Kyphosis	9147	NEMF	OMIM:619099
HP:0002808	Kyphosis	546	ATRX	OMIM:309580
HP:0002808	Kyphosis	546	ATRX	OMIM:301040
HP:0002808	Kyphosis	6611	SMS	OMIM:309583
HP:0002808	Kyphosis	6611	SMS	ORPHA:3063
HP:0002808	Kyphosis	7317	UBA1	ORPHA:1145
HP:0002808	Kyphosis	3339	HSPG2	OMIM:255800
HP:0002808	Kyphosis	60681	FKBP10	OMIM:610968
HP:0002808	Kyphosis	4313	MMP2	OMIM:259600
HP:0002808	Kyphosis	6567	SLC16A2	ORPHA:59
HP:0002808	Kyphosis	5832	ALDH18A1	ORPHA:447760
HP:0002808	Kyphosis	10397	NDRG1	ORPHA:99950
HP:0002808	Kyphosis	10397	NDRG1	OMIM:601455
HP:0002808	Kyphosis	5781	PTPN11	OMIM:151100
HP:0002808	Kyphosis	5781	PTPN11	OMIM:163950
HP:0002808	Kyphosis	91252	SLC39A13	OMIM:612350
HP:0002808	Kyphosis	9894	TELO2	OMIM:616954
HP:0002808	Kyphosis	9894	TELO2	ORPHA:488642
HP:0002808	Kyphosis	2744	GLS	OMIM:618339
HP:0002808	Kyphosis	196528	ARID2	OMIM:617808
HP:0002808	Kyphosis	1959	EGR2	OMIM:145900
HP:0002808	Kyphosis	57716	PRX	OMIM:145900
HP:0002808	Kyphosis	23111	SPART	OMIM:275900
HP:0002808	Kyphosis	5351	PLOD1	OMIM:225400
HP:0002808	Kyphosis	579	NKX3-2	OMIM:613330
HP:0002808	Kyphosis	57122	NUP107	OMIM:618348
HP:0002808	Kyphosis	50814	NSDHL	ORPHA:251383
HP:0002808	Kyphosis	411	ARSB	OMIM:253200
HP:0002808	Kyphosis	9150	CTDP1	OMIM:604168
HP:0002808	Kyphosis	4722	NDUFS3	OMIM:618230
HP:0002808	Kyphosis	55033	FKBP14	OMIM:614557
HP:0002808	Kyphosis	55033	FKBP14	ORPHA:300179
HP:0002808	Kyphosis	4041	LRP5	OMIM:259770
HP:0002808	Kyphosis	3736	KCNA1	ORPHA:37612
HP:0002808	Kyphosis	2068	ERCC2	OMIM:610756
HP:0002808	Kyphosis	10683	DLL3	OMIM:277300
HP:0002808	Kyphosis	145873	MESP2	OMIM:277300
HP:0002808	Kyphosis	2067	ERCC1	OMIM:610758
HP:0002808	Kyphosis	4204	MECP2	OMIM:300055
HP:0002808	Kyphosis	4204	MECP2	ORPHA:3077
HP:0002808	Kyphosis	8925	HERC1	ORPHA:457359
HP:0002808	Kyphosis	4621	MYH3	OMIM:193700
HP:0002808	Kyphosis	22930	RAB3GAP1	OMIM:600118
HP:0002808	Kyphosis	2530	FUT8	OMIM:618005
HP:0002808	Kyphosis	2200	FBN1	OMIM:154700
HP:0002808	Kyphosis	84068	SLC10A7	OMIM:618363
HP:0002808	Kyphosis	23345	SYNE1	OMIM:618484
HP:0002808	Kyphosis	182	JAG1	OMIM:619574
HP:0002808	Kyphosis	7965	AIMP2	OMIM:618006
HP:0002808	Kyphosis	92344	GORAB	OMIM:231070
HP:0002808	Kyphosis	6678	SPARC	OMIM:616507
HP:0002808	Kyphosis	25778	DSTYK	ORPHA:101003
HP:0002808	Kyphosis	4547	MTTP	ORPHA:14
HP:0002808	Kyphosis	80185	TTI2	OMIM:615541
HP:0002808	Kyphosis	80185	TTI2	ORPHA:391307
HP:0002808	Kyphosis	84896	ATAD1	OMIM:618011
HP:0002808	Kyphosis	51715	RAB23	ORPHA:65759
HP:0002808	Kyphosis	1954	MEGF8	ORPHA:65759
HP:0002808	Kyphosis	79147	FKRP	ORPHA:370980
HP:0002808	Kyphosis	2218	FKTN	ORPHA:370980
HP:0002808	Kyphosis	729920	CRPPA	ORPHA:370980
HP:0002808	Kyphosis	10585	POMT1	ORPHA:370980
HP:0002808	Kyphosis	9244	CRLF1	OMIM:272430
HP:0002808	Kyphosis	26040	SETBP1	ORPHA:798
HP:0002808	Kyphosis	5727	PTCH1	OMIM:109400
HP:0002808	Kyphosis	11285	B4GALT7	ORPHA:75496
HP:0002808	Kyphosis	3835	KIF22	ORPHA:93360
HP:0002808	Kyphosis	4000	LMNA	OMIM:605588
HP:0002808	Kyphosis	1861	TOR1A	OMIM:618947
HP:0002808	Kyphosis	23233	EXOC6B	ORPHA:93359
HP:0002808	Kyphosis	126792	B3GALT6	ORPHA:93359
HP:0002808	Kyphosis	126792	B3GALT6	OMIM:271640
HP:0002808	Kyphosis	126792	B3GALT6	ORPHA:536467
HP:0002808	Kyphosis	126792	B3GALT6	OMIM:615349
HP:0002808	Kyphosis	22931	RAB18	OMIM:614222
HP:0002808	Kyphosis	4659	PPP1R12A	OMIM:618820
HP:0002808	Kyphosis	10382	TUBB4A	ORPHA:98805
HP:0002808	Kyphosis	56270	WDR45B	OMIM:617977
HP:0002808	Kyphosis	9060	PAPSS2	OMIM:612847
HP:0002808	Kyphosis	4796	TONSL	ORPHA:93357
HP:0002808	Kyphosis	4796	TONSL	OMIM:271510
HP:0002808	Kyphosis	1836	SLC26A2	OMIM:222600
HP:0002808	Kyphosis	285590	SH3PXD2B	OMIM:249420
HP:0002808	Kyphosis	4841	NONO	OMIM:300967
HP:0002808	Kyphosis	4841	NONO	ORPHA:466791
HP:0002808	Kyphosis	6197	RPS6KA3	OMIM:300844
HP:0002808	Kyphosis	207	AKT1	OMIM:176920
HP:0002808	Kyphosis	60482	SLC5A7	ORPHA:98914
HP:0002808	Kyphosis	4649	MYO9A	ORPHA:98914
HP:0002808	Kyphosis	1305	COL13A1	ORPHA:98914
HP:0002808	Kyphosis	1103	CHAT	ORPHA:98914
HP:0002808	Kyphosis	6576	SLC25A1	ORPHA:98914
HP:0002808	Kyphosis	6843	VAMP1	ORPHA:98914
HP:0002808	Kyphosis	375790	AGRN	ORPHA:98914
HP:0002808	Kyphosis	127833	SYT2	ORPHA:98914
HP:0002808	Kyphosis	6572	SLC18A3	ORPHA:98914
HP:0002808	Kyphosis	6616	SNAP25	ORPHA:98914
HP:0002808	Kyphosis	55717	WDR11	OMIM:620237
HP:0002808	Kyphosis	93587	TRMT10A	ORPHA:391408
HP:0002808	Kyphosis	2273	FHL1	OMIM:300280
HP:0002808	Kyphosis	6651	SON	ORPHA:500150
HP:0002808	Kyphosis	89970	RSPRY1	ORPHA:457395
HP:0002808	Kyphosis	80208	SPG11	OMIM:616668
HP:0002808	Kyphosis	1073	CFL2	OMIM:610687
HP:0002808	Kyphosis	138050	HGSNAT	OMIM:252930
HP:0002808	Kyphosis	875	CBS	OMIM:236200
HP:0002808	Kyphosis	10269	ZMPSTE24	OMIM:275210
HP:0002808	Kyphosis	3908	LAMA2	OMIM:607855
HP:0002808	Kyphosis	7043	TGFB3	OMIM:615582
HP:0002808	Kyphosis	4137	MAPT	OMIM:260540
HP:0002808	Kyphosis	523	ATP6V1A	OMIM:617403
HP:0002808	Kyphosis	529	ATP6V1E1	OMIM:617402
HP:0002808	Kyphosis	26123	TCTN3	OMIM:614815
HP:0002808	Kyphosis	8517	IKBKG	OMIM:308300
HP:0002808	Kyphosis	246329	STAC3	OMIM:255995
HP:0002808	Kyphosis	5604	MAP2K1	OMIM:163950
HP:0002808	Kyphosis	673	BRAF	OMIM:163950
HP:0002808	Kyphosis	64374	SIL1	OMIM:248800
HP:0002808	Kyphosis	8450	CUL4B	OMIM:300354
HP:0002808	Kyphosis	8450	CUL4B	ORPHA:85293
HP:0002808	Kyphosis	25970	SH2B1	ORPHA:261222
HP:0002808	Kyphosis	6910	TBX5	ORPHA:392
HP:0002808	Kyphosis	8294	H4C9	OMIM:619951
HP:0002808	Kyphosis	9871	SEC24D	ORPHA:2050
HP:0002808	Kyphosis	9871	SEC24D	OMIM:616294
HP:0002808	Kyphosis	5034	P4HB	ORPHA:2050
HP:0002808	Kyphosis	1161	ERCC8	ORPHA:90324
HP:0002808	Kyphosis	1161	ERCC8	ORPHA:90322
HP:0002808	Kyphosis	1161	ERCC8	OMIM:216400
HP:0002808	Kyphosis	6938	TCF12	OMIM:619718
HP:0002808	Kyphosis	9820	CUL7	ORPHA:2616
HP:0002808	Kyphosis	23363	OBSL1	ORPHA:2616
HP:0002808	Kyphosis	83987	CCDC8	ORPHA:2616
HP:0002808	Kyphosis	81857	MED25	OMIM:616449
HP:0002808	Kyphosis	81857	MED25	ORPHA:464738
HP:0002808	Kyphosis	538	ATP7A	OMIM:304150
HP:0002808	Kyphosis	538	ATP7A	ORPHA:198
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:93274
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:1860
HP:0002808	Kyphosis	2261	FGFR3	OMIM:616482
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:15
HP:0002808	Kyphosis	64324	NSD1	ORPHA:821
HP:0002808	Kyphosis	29072	SETD2	ORPHA:821
HP:0002808	Kyphosis	10297	APC2	ORPHA:821
HP:0002808	Kyphosis	1291	COL6A1	ORPHA:75840
HP:0002808	Kyphosis	1291	COL6A1	OMIM:254090
HP:0002808	Kyphosis	1292	COL6A2	ORPHA:75840
HP:0002808	Kyphosis	1292	COL6A2	OMIM:254090
HP:0002808	Kyphosis	1293	COL6A3	ORPHA:75840
HP:0002808	Kyphosis	1293	COL6A3	OMIM:254090
HP:0002808	Kyphosis	55209	SETD5	ORPHA:404440
HP:0002808	Kyphosis	55209	SETD5	OMIM:615761
HP:0002808	Kyphosis	6840	SVIL	OMIM:619040
HP:0002808	Kyphosis	5631	PRPS1	ORPHA:99014
HP:0002808	Kyphosis	267010	RNU12	OMIM:603116
HP:0002808	Kyphosis	4703	NEB	ORPHA:171436
HP:0002808	Kyphosis	10324	KLHL41	ORPHA:171436
HP:0002808	Kyphosis	56203	LMOD3	ORPHA:171436
HP:0002808	Kyphosis	526	ATP6V1B2	OMIM:616455
HP:0002808	Kyphosis	50940	PDE11A	OMIM:610475
HP:0002808	Kyphosis	55904	KMT2E	OMIM:618512
HP:0002808	Kyphosis	224	ALDH3A2	ORPHA:816
HP:0002808	Kyphosis	1717	DHCR7	ORPHA:818
HP:0002808	Kyphosis	4758	NEU1	ORPHA:812
HP:0002808	Kyphosis	64175	P3H1	OMIM:610915
HP:0002808	Kyphosis	1146	CHRNG	OMIM:265000
HP:0002808	Kyphosis	84572	GNPTG	OMIM:252605
HP:0002808	Kyphosis	137492	VPS37A	ORPHA:319199
HP:0002808	Kyphosis	137492	VPS37A	OMIM:614898
HP:0002808	Kyphosis	51360	MBTPS2	ORPHA:2273
HP:0002808	Kyphosis	57492	ARID1B	OMIM:135900
HP:0002808	Kyphosis	284058	KANSL1	ORPHA:363958
HP:0002808	Kyphosis	284058	KANSL1	ORPHA:363965
HP:0002808	Kyphosis	284058	KANSL1	OMIM:610443
HP:0002808	Kyphosis	274	BIN1	OMIM:255200
HP:0002808	Kyphosis	3064	HTT	OMIM:617435
HP:0002808	Kyphosis	5573	PRKAR1A	OMIM:610489
HP:0002808	Kyphosis	64359	NXN	ORPHA:1507
HP:0002808	Kyphosis	4920	ROR2	ORPHA:1507
HP:0002808	Kyphosis	7840	ALMS1	OMIM:203800
HP:0002808	Kyphosis	7840	ALMS1	ORPHA:64
HP:0002808	Kyphosis	83550	GPR101	ORPHA:963
HP:0002808	Kyphosis	83550	GPR101	OMIM:300942
HP:0002808	Kyphosis	9049	AIP	ORPHA:963
HP:0002808	Kyphosis	9049	AIP	OMIM:219090
HP:0002808	Kyphosis	4323	MMP14	OMIM:277950
HP:0002808	Kyphosis	3106	HLA-B	OMIM:106300
HP:0002808	Kyphosis	7020	TFAP2A	OMIM:113620
HP:0002808	Kyphosis	57531	HACE1	ORPHA:464282
HP:0002808	Kyphosis	57531	HACE1	OMIM:616756
HP:0002808	Kyphosis	10815	CPLX1	ORPHA:280
HP:0002808	Kyphosis	10815	CPLX1	OMIM:194190
HP:0002808	Kyphosis	54872	PIGG	ORPHA:280
HP:0002808	Kyphosis	7469	NELFA	ORPHA:280
HP:0002808	Kyphosis	1487	CTBP1	ORPHA:280
HP:0002808	Kyphosis	1487	CTBP1	OMIM:194190
HP:0002808	Kyphosis	3954	LETM1	ORPHA:280
HP:0002808	Kyphosis	3954	LETM1	OMIM:194190
HP:0002808	Kyphosis	7468	NSD2	ORPHA:280
HP:0002808	Kyphosis	7468	NSD2	OMIM:194190
HP:0002808	Kyphosis	633	BGN	OMIM:300106
HP:0002808	Kyphosis	860	RUNX2	OMIM:119600
HP:0002808	Kyphosis	5424	POLD1	OMIM:615381
HP:0002808	Kyphosis	26053	AUTS2	ORPHA:352490
HP:0002808	Kyphosis	26053	AUTS2	OMIM:615834
HP:0002808	Kyphosis	2720	GLB1	OMIM:253010
HP:0002808	Kyphosis	2720	GLB1	OMIM:230650
HP:0002808	Kyphosis	2720	GLB1	OMIM:230500
HP:0002808	Kyphosis	7471	WNT1	ORPHA:85193
HP:0002808	Kyphosis	22943	DKK1	ORPHA:85193
HP:0002808	Kyphosis	89780	WNT3A	ORPHA:85193
HP:0002808	Kyphosis	200734	SPRED2	OMIM:619745
HP:0002808	Kyphosis	11160	ERLIN2	OMIM:611225
HP:0002808	Kyphosis	3782	KCNN3	OMIM:618658
HP:0002808	Kyphosis	3425	IDUA	OMIM:607014
HP:0002808	Kyphosis	3425	IDUA	OMIM:607015
HP:0002808	Kyphosis	53834	FGFRL1	OMIM:194190
HP:0002808	Kyphosis	113278	SLC52A3	OMIM:211530
HP:0002808	Kyphosis	9653	HS2ST1	OMIM:619194
HP:0002808	Kyphosis	65109	UPF3B	OMIM:300676
HP:0002808	Kyphosis	6804	STX1A	ORPHA:904
HP:0002808	Kyphosis	7461	CLIP2	ORPHA:904
HP:0002808	Kyphosis	84277	DNAJC30	ORPHA:904
HP:0002808	Kyphosis	8468	FKBP6	ORPHA:904
HP:0002808	Kyphosis	5982	RFC2	ORPHA:904
HP:0002808	Kyphosis	2969	GTF2I	ORPHA:904
HP:0002808	Kyphosis	3984	LIMK1	ORPHA:904
HP:0002808	Kyphosis	9569	GTF2IRD1	ORPHA:904
HP:0002808	Kyphosis	155382	VPS37D	ORPHA:904
HP:0002808	Kyphosis	155368	METTL27	ORPHA:904
HP:0002808	Kyphosis	114049	BUD23	ORPHA:904
HP:0002808	Kyphosis	7458	EIF4H	ORPHA:904
HP:0002808	Kyphosis	84163	GTF2IRD2	ORPHA:904
HP:0002808	Kyphosis	9275	BCL7B	ORPHA:904
HP:0002808	Kyphosis	26608	TBL2	ORPHA:904
HP:0002808	Kyphosis	653361	NCF1	ORPHA:904
HP:0002808	Kyphosis	135886	TMEM270	ORPHA:904
HP:0002808	Kyphosis	9031	BAZ1B	ORPHA:904
HP:0002808	Kyphosis	5590	PRKCZ	ORPHA:1606
HP:0002808	Kyphosis	2563	GABRD	ORPHA:1606
HP:0002808	Kyphosis	23013	SPEN	ORPHA:1606
HP:0002808	Kyphosis	8510	MMP23B	ORPHA:1606
HP:0002808	Kyphosis	7798	LUZP1	ORPHA:1606
HP:0002808	Kyphosis	6497	SKI	ORPHA:1606
HP:0002808	Kyphosis	10630	PDPN	ORPHA:1606
HP:0002808	Kyphosis	10277	UBE4B	ORPHA:1606
HP:0002808	Kyphosis	8514	KCNAB2	ORPHA:1606
HP:0002808	Kyphosis	473	RERE	ORPHA:1606
HP:0002808	Kyphosis	63976	PRDM16	ORPHA:1606
HP:0002808	Kyphosis	54897	CASZ1	ORPHA:1606
HP:0002808	Kyphosis	2705	GJB1	ORPHA:101075
HP:0002808	Kyphosis	4952	OCRL	OMIM:309000
HP:0002808	Kyphosis	4952	OCRL	ORPHA:534
HP:0002808	Kyphosis	64837	KLC2	OMIM:609541
HP:0002808	Kyphosis	1859	DYRK1A	ORPHA:464311
HP:0002808	Kyphosis	1859	DYRK1A	ORPHA:268261
HP:0002808	Kyphosis	2517	FUCA1	ORPHA:349
HP:0002808	Kyphosis	23137	SMC5	OMIM:620185
HP:0002808	Kyphosis	92667	MGME1	ORPHA:352447
HP:0002808	Kyphosis	92667	MGME1	OMIM:615084
HP:0002808	Kyphosis	1311	COMP	OMIM:177170
HP:0002808	Kyphosis	56052	ALG1	ORPHA:79327
HP:0002808	Kyphosis	26137	ZBTB20	OMIM:259050
HP:0002808	Kyphosis	26137	ZBTB20	ORPHA:3042
HP:0002808	Kyphosis	6628	SNRPB	ORPHA:1393
HP:0002808	Kyphosis	368	ABCC6	OMIM:177850
HP:0002808	Kyphosis	55906	ZC4H2	ORPHA:3454
HP:0002808	Kyphosis	55906	ZC4H2	OMIM:301041
HP:0002808	Kyphosis	55906	ZC4H2	OMIM:314580
HP:0002808	Kyphosis	124583	CANT1	OMIM:251450
HP:0002808	Kyphosis	23299	BICD2	OMIM:615290
HP:0002808	Kyphosis	23299	BICD2	OMIM:618291
HP:0002808	Kyphosis	23162	MAPK8IP3	OMIM:618443
HP:0002808	Kyphosis	3423	IDS	OMIM:309900
HP:0002808	Kyphosis	55325	UFSP2	ORPHA:2114
HP:0002808	Kyphosis	3930	LBR	OMIM:169400
HP:0002808	Kyphosis	3930	LBR	OMIM:618019
HP:0002808	Kyphosis	2146	EZH2	OMIM:277590
HP:0002808	Kyphosis	57704	GBA2	OMIM:614409
HP:0002808	Kyphosis	80324	PUS1	ORPHA:2598
HP:0002808	Kyphosis	51067	YARS2	ORPHA:2598
HP:0002808	Kyphosis	2010	EMD	ORPHA:98863
HP:0002808	Kyphosis	9896	FIG4	OMIM:216340
HP:0002808	Kyphosis	26100	WIPI2	OMIM:618453
HP:0002808	Kyphosis	2303	FOXC2	OMIM:153400
HP:0002808	Kyphosis	4212	MEIS2	ORPHA:261190
HP:0002808	Kyphosis	2629	GBA1	ORPHA:77259
HP:0002808	Kyphosis	950	SCARB2	ORPHA:77259
HP:0002808	Kyphosis	79188	TMEM43	ORPHA:98853
HP:0002808	Kyphosis	23224	SYNE2	ORPHA:98853
HP:0002808	Kyphosis	5979	RET	OMIM:162300
HP:0002808	Kyphosis	54808	DYM	OMIM:607326
HP:0002808	Kyphosis	54808	DYM	OMIM:223800
HP:0002808	Kyphosis	6909	TBX2	OMIM:618223
HP:0002808	Kyphosis	9759	HDAC4	OMIM:619797
HP:0002808	Kyphosis	7167	TPI1	OMIM:615512
HP:0002808	Kyphosis	2290	FOXG1	OMIM:613454
HP:0002808	Kyphosis	2290	FOXG1	ORPHA:261144
HP:0002808	Kyphosis	55628	ZNF407	OMIM:619557
HP:0002808	Kyphosis	2778	GNAS	OMIM:219080
HP:0002808	Kyphosis	3081	HGD	OMIM:203500
HP:0002808	Kyphosis	79796	ALG9	OMIM:608776
HP:0002808	Kyphosis	1277	COL1A1	OMIM:259420
HP:0002808	Kyphosis	1277	COL1A1	OMIM:130060
HP:0002808	Kyphosis	1277	COL1A1	OMIM:166220
HP:0002808	Kyphosis	7681	MKRN3	OMIM:176270
HP:0002808	Kyphosis	3653	IPW	OMIM:176270
HP:0002808	Kyphosis	54551	MAGEL2	OMIM:176270
HP:0002808	Kyphosis	54551	MAGEL2	ORPHA:398069
HP:0002808	Kyphosis	54551	MAGEL2	OMIM:615547
HP:0002808	Kyphosis	791114	PWRN1	OMIM:176270
HP:0002808	Kyphosis	100033413	SNORD116-1	OMIM:176270
HP:0002808	Kyphosis	8924	HERC2	OMIM:176270
HP:0002808	Kyphosis	145624	PWAR1	OMIM:176270
HP:0002808	Kyphosis	23742	NPAP1	OMIM:176270
HP:0002808	Kyphosis	338433	SNORD115-1	OMIM:176270
HP:0002808	Kyphosis	6792	CDKL5	ORPHA:3095
HP:0002808	Kyphosis	6792	CDKL5	ORPHA:505652
HP:0002808	Kyphosis	22854	NTNG1	ORPHA:3095
HP:0002808	Kyphosis	9568	GABBR2	ORPHA:3095
HP:0002808	Kyphosis	8243	SMC1A	ORPHA:3095
HP:0002808	Kyphosis	51103	NDUFAF1	OMIM:618234
HP:0002808	Kyphosis	1436	CSF1R	OMIM:618476
HP:0002808	Kyphosis	4854	NOTCH3	OMIM:130720
HP:0002808	Kyphosis	4854	NOTCH3	ORPHA:2789
HP:0002808	Kyphosis	29078	NDUFAF4	OMIM:618237
HP:0002808	Kyphosis	3897	L1CAM	OMIM:303350
HP:0002808	Kyphosis	28982	FLVCR1	ORPHA:88628
HP:0002808	Kyphosis	8888	MCM3AP	OMIM:618124
HP:0002808	Kyphosis	134701	RIPPLY2	ORPHA:2311
HP:0002808	Kyphosis	3955	LFNG	ORPHA:2311
HP:0002808	Kyphosis	3955	LFNG	OMIM:609813
HP:0002808	Kyphosis	84667	HES7	ORPHA:2311
HP:0002808	Kyphosis	4982	TNFRSF11B	OMIM:239000
HP:0002808	Kyphosis	10483	SEC23B	ORPHA:201
HP:0002808	Kyphosis	5728	PTEN	ORPHA:201
HP:0002808	Kyphosis	5728	PTEN	ORPHA:744
HP:0002808	Kyphosis	5728	PTEN	OMIM:158350
HP:0002808	Kyphosis	6390	SDHB	ORPHA:201
HP:0002808	Kyphosis	6392	SDHD	ORPHA:201
HP:0002808	Kyphosis	6391	SDHC	ORPHA:201
HP:0002808	Kyphosis	205717	USF3	ORPHA:201
HP:0002808	Kyphosis	5290	PIK3CA	ORPHA:201
HP:0002808	Kyphosis	5290	PIK3CA	OMIM:615108
HP:0002808	Kyphosis	100144748	KLLN	ORPHA:201
HP:0002808	Kyphosis	25942	SIN3A	ORPHA:94065
HP:0002808	Kyphosis	54681	P4HTM	OMIM:618493
HP:0002808	Kyphosis	25	ABL1	OMIM:617602
HP:0002808	Kyphosis	175	AGA	OMIM:208400
HP:0002808	Kyphosis	9101	USP8	OMIM:219090
HP:0002808	Kyphosis	59336	PRDM13	OMIM:619909
HP:0002808	Kyphosis	7874	USP7	ORPHA:500055
HP:0002808	Kyphosis	157680	VPS13B	ORPHA:193
HP:0002808	Kyphosis	10526	IPO8	OMIM:619472
HP:0002808	Kyphosis	2892	GRIA3	ORPHA:364028
HP:0002808	Kyphosis	6711	SPTBN1	OMIM:619475
HP:0002808	Kyphosis	2588	GALNS	OMIM:253000
HP:0002808	Kyphosis	9791	PTDSS1	ORPHA:2658
HP:0002808	Kyphosis	5352	PLOD2	ORPHA:2771
HP:0002808	Kyphosis	7040	TGFB1	ORPHA:1328
HP:0002808	Kyphosis	7343	UBTF	ORPHA:500180
HP:0002808	Kyphosis	8720	MBTPS1	OMIM:618392
HP:0002808	Kyphosis	4927	NUP88	OMIM:618393
HP:0002808	Kyphosis	23405	DICER1	OMIM:618272
HP:0002808	Kyphosis	283446	MYO1H	OMIM:619482
HP:0002808	Kyphosis	7204	TRIO	OMIM:617061
HP:0002808	Kyphosis	7204	TRIO	ORPHA:476126
HP:0002808	Kyphosis	6872	TAF1	OMIM:300966
HP:0002808	Kyphosis	8567	MADD	OMIM:619005
HP:0002808	Kyphosis	1857	DVL3	OMIM:616894
HP:0002808	Kyphosis	57477	SHROOM4	ORPHA:85288
HP:0002808	Kyphosis	29123	ANKRD11	ORPHA:261250
HP:0002808	Kyphosis	91875	TTC5	OMIM:619244
HP:0002808	Kyphosis	90416	CCDC32	OMIM:619123
HP:0002808	Kyphosis	79152	FA2H	ORPHA:171629
HP:0002808	Kyphosis	9373	PLAA	ORPHA:521426
HP:0002808	Kyphosis	9373	PLAA	OMIM:617527
HP:0002808	Kyphosis	54676	GTPBP2	OMIM:617988
HP:0002808	Kyphosis	55252	ASXL2	OMIM:617190
HP:0002808	Kyphosis	5296	PIK3R2	OMIM:603387
HP:0002808	Kyphosis	84295	PHF6	OMIM:301900
HP:0002808	Kyphosis	1315	COPB1	OMIM:619255
HP:0002808	Kyphosis	2990	GUSB	OMIM:253220
HP:0002808	Kyphosis	2733	GLE1	OMIM:611890
HP:0002808	Kyphosis	203190	LGI3	OMIM:620007
HP:0002808	Kyphosis	5479	PPIB	OMIM:259440
HP:0002808	Kyphosis	25782	RAB3GAP2	ORPHA:2510
HP:0002808	Kyphosis	128637	TBC1D20	ORPHA:2510
HP:0002808	Kyphosis	23529	CLCF1	ORPHA:1545
HP:0002808	Kyphosis	9897	WASHC5	ORPHA:7
HP:0002808	Kyphosis	28952	CCDC22	ORPHA:7
HP:0002808	Kyphosis	11011	TLK2	OMIM:618050
HP:0002808	Kyphosis	1513	CTSK	ORPHA:763
HP:0002808	Kyphosis	79644	SRD5A3	ORPHA:324737
HP:0002808	Kyphosis	9927	MFN2	OMIM:617087
HP:0002808	Kyphosis	64221	ROBO3	ORPHA:2744
HP:0002808	Kyphosis	1630	DCC	ORPHA:2744
HP:0002808	Kyphosis	51763	INPP5K	OMIM:617404
HP:0002808	Kyphosis	58508	KMT2C	OMIM:617768
HP:0002808	Kyphosis	5297	PI4KA	OMIM:619708
HP:0002808	Kyphosis	22827	PUF60	ORPHA:508498
HP:0002808	Kyphosis	65082	VPS33A	ORPHA:505248
HP:0002808	Kyphosis	4677	NARS1	OMIM:619092
HP:0002808	Kyphosis	5286	PIK3C2A	OMIM:618440
HP:0002808	Kyphosis	5286	PIK3C2A	ORPHA:557003
HP:0002808	Kyphosis	124997	WDR81	OMIM:610185
HP:0002808	Kyphosis	1593	CYP27A1	ORPHA:909
HP:0002808	Kyphosis	5593	PRKG2	OMIM:619638
HP:0002808	Kyphosis	404672	GTF2H5	ORPHA:33364
HP:0002808	Kyphosis	833	CARS1	ORPHA:33364
HP:0002808	Kyphosis	7737	RNF113A	ORPHA:33364
HP:0002808	Kyphosis	136647	MPLKIP	ORPHA:33364
HP:0002808	Kyphosis	6897	TARS1	ORPHA:33364
HP:0002808	Kyphosis	2071	ERCC3	ORPHA:33364
HP:0002808	Kyphosis	2961	GTF2E2	ORPHA:33364
HP:0002808	Kyphosis	79583	TMEM231	ORPHA:2752
HP:0002808	Kyphosis	23133	PHF8	OMIM:300263
HP:0002808	Kyphosis	164	AP1G1	OMIM:619467
HP:0002808	Kyphosis	6023	RMRP	OMIM:607095
HP:0002808	Kyphosis	64132	XYLT2	ORPHA:85194
HP:0002808	Kyphosis	50485	SMARCAL1	OMIM:242900
HP:0002808	Kyphosis	1756	DMD	ORPHA:206546
HP:0002808	Kyphosis	2317	FLNB	OMIM:150250
HP:0002808	Kyphosis	2317	FLNB	OMIM:108721
HP:0002808	Kyphosis	415	ARSL	ORPHA:79345
HP:0002808	Kyphosis	1009	CDH11	ORPHA:1299
HP:0002808	Kyphosis	25871	NEPRO	OMIM:618853
HP:0002808	Kyphosis	10940	POP1	OMIM:617396
HP:0002808	Kyphosis	4247	MGAT2	OMIM:212066
HP:0002808	Kyphosis	8022	LHX3	ORPHA:231720
HP:0002808	Kyphosis	79158	GNPTAB	OMIM:252500
HP:0002808	Kyphosis	10533	ATG7	OMIM:619422
HP:0002808	Kyphosis	4882	NPR2	OMIM:602875
HP:0002808	Kyphosis	139285	AMER1	OMIM:300373
HP:0002808	Kyphosis	116931	MED12L	OMIM:618872
HP:0002808	Kyphosis	4125	MAN2B1	OMIM:248500
HP:0002808	Kyphosis	23219	FBXO28	OMIM:619777
HP:0003316	Butterfly vertebrae	6660	SOX5	ORPHA:313892
HP:0003316	Butterfly vertebrae	2294	FOXF1	OMIM:265380
HP:0003316	Butterfly vertebrae	10735	STAG2	OMIM:301043
HP:0003316	Butterfly vertebrae	10526	IPO8	OMIM:619472
HP:0003316	Butterfly vertebrae	579	NKX3-2	OMIM:613330
HP:0003316	Butterfly vertebrae	134701	RIPPLY2	OMIM:616566
HP:0003316	Butterfly vertebrae	415	ARSL	ORPHA:79345
HP:0003316	Butterfly vertebrae	79087	ALG12	OMIM:607143
HP:0003316	Butterfly vertebrae	55593	OTUD5	OMIM:301056
HP:0003316	Butterfly vertebrae	51360	MBTPS2	OMIM:308205
HP:0003316	Butterfly vertebrae	23498	HAAO	OMIM:617660
HP:0003316	Butterfly vertebrae	55790	CSGALNACT1	OMIM:618870
HP:0003316	Butterfly vertebrae	8085	KMT2D	ORPHA:2322
HP:0003316	Butterfly vertebrae	7403	KDM6A	ORPHA:2322
HP:0003316	Butterfly vertebrae	51729	WBP11	OMIM:619227
HP:0003316	Butterfly vertebrae	4990	SIX6	OMIM:206900
HP:0003316	Butterfly vertebrae	6657	SOX2	OMIM:206900
HP:0003316	Butterfly vertebrae	6911	TBX6	OMIM:122600
HP:0003316	Butterfly vertebrae	9382	COG1	OMIM:611209
HP:0003316	Butterfly vertebrae	9382	COG1	ORPHA:263508
HP:0003316	Butterfly vertebrae	3911	LAMA5	OMIM:620076
HP:0003316	Butterfly vertebrae	6309	SC5D	OMIM:607330
HP:0003318	Cervical spine hypermobility	2245	FGD1	OMIM:305400
HP:0003319	Abnormality of the cervical spine	8036	SHOC2	OMIM:607721
HP:0003319	Abnormality of the cervical spine	11253	MAN1B1	ORPHA:397941
HP:0003319	Abnormality of the cervical spine	11253	MAN1B1	OMIM:614202
HP:0003319	Abnormality of the cervical spine	8367	H4C5	OMIM:619950
HP:0003319	Abnormality of the cervical spine	8216	LZTR1	OMIM:616564
HP:0003319	Abnormality of the cervical spine	8216	LZTR1	OMIM:605275
HP:0003319	Abnormality of the cervical spine	6016	RIT1	OMIM:615355
HP:0003319	Abnormality of the cervical spine	2972	BRF1	OMIM:616202
HP:0003319	Abnormality of the cervical spine	2972	BRF1	ORPHA:444072
HP:0003319	Abnormality of the cervical spine	9820	CUL7	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	9820	CUL7	OMIM:273750
HP:0003319	Abnormality of the cervical spine	23363	OBSL1	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	23363	OBSL1	OMIM:612921
HP:0003319	Abnormality of the cervical spine	83987	CCDC8	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	83987	CCDC8	OMIM:614205
HP:0003319	Abnormality of the cervical spine	55627	SMPD4	OMIM:618622
HP:0003319	Abnormality of the cervical spine	5361	PLXNA1	OMIM:619955
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	ORPHA:56304
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	OMIM:256050
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	ORPHA:93298
HP:0003319	Abnormality of the cervical spine	4125	MAN2B1	ORPHA:309282
HP:0003319	Abnormality of the cervical spine	6662	SOX9	ORPHA:140
HP:0003319	Abnormality of the cervical spine	341640	FREM2	OMIM:617666
HP:0003319	Abnormality of the cervical spine	65082	VPS33A	OMIM:617303
HP:0003319	Abnormality of the cervical spine	65082	VPS33A	ORPHA:505248
HP:0003319	Abnormality of the cervical spine	526	ATP6V1B2	OMIM:616455
HP:0003319	Abnormality of the cervical spine	526	ATP6V1B2	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	2201	FBN2	OMIM:121050
HP:0003319	Abnormality of the cervical spine	3764	KCNJ8	ORPHA:1517
HP:0003319	Abnormality of the cervical spine	10060	ABCC9	ORPHA:1517
HP:0003319	Abnormality of the cervical spine	10060	ABCC9	OMIM:239850
HP:0003319	Abnormality of the cervical spine	84572	GNPTG	OMIM:252605
HP:0003319	Abnormality of the cervical spine	6023	RMRP	ORPHA:175
HP:0003319	Abnormality of the cervical spine	6023	RMRP	OMIM:607095
HP:0003319	Abnormality of the cervical spine	83696	TRAPPC9	OMIM:613192
HP:0003319	Abnormality of the cervical spine	1020	CDK5	OMIM:616342
HP:0003319	Abnormality of the cervical spine	9469	CHST3	OMIM:143095
HP:0003319	Abnormality of the cervical spine	9469	CHST3	OMIM:245600
HP:0003319	Abnormality of the cervical spine	10606	PAICS	OMIM:619859
HP:0003319	Abnormality of the cervical spine	4853	NOTCH2	OMIM:102500
HP:0003319	Abnormality of the cervical spine	4853	NOTCH2	ORPHA:955
HP:0003319	Abnormality of the cervical spine	55681	SCYL2	OMIM:618766
HP:0003319	Abnormality of the cervical spine	64359	NXN	ORPHA:1507
HP:0003319	Abnormality of the cervical spine	4920	ROR2	ORPHA:1507
HP:0003319	Abnormality of the cervical spine	4920	ROR2	OMIM:268310
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	ORPHA:1865
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	OMIM:255800
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	ORPHA:800
HP:0003319	Abnormality of the cervical spine	2626	GATA4	ORPHA:251071
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:113500
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:168400
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:184252
HP:0003319	Abnormality of the cervical spine	7020	TFAP2A	OMIM:113620
HP:0003319	Abnormality of the cervical spine	1501	CTNND2	ORPHA:281
HP:0003319	Abnormality of the cervical spine	9037	SEMA5A	ORPHA:281
HP:0003319	Abnormality of the cervical spine	1301	COL11A1	OMIM:228520
HP:0003319	Abnormality of the cervical spine	1301	COL11A1	ORPHA:2021
HP:0003319	Abnormality of the cervical spine	93627	TBCK	ORPHA:488632
HP:0003319	Abnormality of the cervical spine	200734	SPRED2	OMIM:619745
HP:0003319	Abnormality of the cervical spine	64132	XYLT2	ORPHA:85194
HP:0003319	Abnormality of the cervical spine	10716	TBR1	ORPHA:1617
HP:0003319	Abnormality of the cervical spine	26040	SETBP1	OMIM:269150
HP:0003319	Abnormality of the cervical spine	26040	SETBP1	ORPHA:798
HP:0003319	Abnormality of the cervical spine	4247	MGAT2	OMIM:212066
HP:0003319	Abnormality of the cervical spine	3476	IGBP1	ORPHA:52055
HP:0003319	Abnormality of the cervical spine	3476	IGBP1	OMIM:300472
HP:0003319	Abnormality of the cervical spine	57167	SALL4	ORPHA:233
HP:0003319	Abnormality of the cervical spine	9935	MAFB	ORPHA:233
HP:0003319	Abnormality of the cervical spine	1123	CHN1	ORPHA:233
HP:0003319	Abnormality of the cervical spine	1947	EFNB1	OMIM:304110
HP:0003319	Abnormality of the cervical spine	92482	BBIP1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	80184	CEP290	ORPHA:110
HP:0003319	Abnormality of the cervical spine	11020	IFT27	ORPHA:110
HP:0003319	Abnormality of the cervical spine	582	BBS1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	49855	SCAPER	ORPHA:110
HP:0003319	Abnormality of the cervical spine	4867	NPHP1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	51057	WDPCP	ORPHA:110
HP:0003319	Abnormality of the cervical spine	27241	BBS9	ORPHA:110
HP:0003319	Abnormality of the cervical spine	84984	CEP19	ORPHA:110
HP:0003319	Abnormality of the cervical spine	22954	TRIM32	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54903	MKS1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54903	MKS1	OMIM:249000
HP:0003319	Abnormality of the cervical spine	79738	BBS10	ORPHA:110
HP:0003319	Abnormality of the cervical spine	123016	TTC8	ORPHA:110
HP:0003319	Abnormality of the cervical spine	26160	IFT172	ORPHA:110
HP:0003319	Abnormality of the cervical spine	583	BBS2	ORPHA:110
HP:0003319	Abnormality of the cervical spine	585	BBS4	ORPHA:110
HP:0003319	Abnormality of the cervical spine	8195	MKKS	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54585	LZTFL1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	55212	BBS7	ORPHA:110
HP:0003319	Abnormality of the cervical spine	166379	BBS12	ORPHA:110
HP:0003319	Abnormality of the cervical spine	10806	SDCCAG8	ORPHA:110
HP:0003319	Abnormality of the cervical spine	157657	CFAP418	ORPHA:110
HP:0003319	Abnormality of the cervical spine	84100	ARL6	ORPHA:110
HP:0003319	Abnormality of the cervical spine	129880	BBS5	ORPHA:110
HP:0003319	Abnormality of the cervical spine	80173	IFT74	ORPHA:110
HP:0003319	Abnormality of the cervical spine	9895	TECPR2	OMIM:615031
HP:0003319	Abnormality of the cervical spine	9895	TECPR2	ORPHA:320385
HP:0003319	Abnormality of the cervical spine	63895	PIEZO2	OMIM:114300
HP:0003319	Abnormality of the cervical spine	63895	PIEZO2	OMIM:248700
HP:0003319	Abnormality of the cervical spine	23126	POGZ	OMIM:616364
HP:0003319	Abnormality of the cervical spine	23126	POGZ	ORPHA:468678
HP:0003319	Abnormality of the cervical spine	51633	OTUD6B	OMIM:617452
HP:0003319	Abnormality of the cervical spine	51633	OTUD6B	ORPHA:505237
HP:0003319	Abnormality of the cervical spine	3572	IL6ST	OMIM:619750
HP:0003319	Abnormality of the cervical spine	5048	PAFAH1B1	ORPHA:217385
HP:0003319	Abnormality of the cervical spine	7531	YWHAE	ORPHA:217385
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	OMIM:615279
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	OMIM:163950
HP:0003319	Abnormality of the cervical spine	92609	TIMM50	OMIM:617698
HP:0003319	Abnormality of the cervical spine	79770	TXNDC15	OMIM:619879
HP:0003319	Abnormality of the cervical spine	2990	GUSB	ORPHA:584
HP:0003319	Abnormality of the cervical spine	2990	GUSB	OMIM:253220
HP:0003319	Abnormality of the cervical spine	79796	ALG9	ORPHA:79328
HP:0003319	Abnormality of the cervical spine	79796	ALG9	OMIM:608776
HP:0003319	Abnormality of the cervical spine	79796	ALG9	OMIM:263210
HP:0003319	Abnormality of the cervical spine	79718	TBL1XR1	OMIM:602342
HP:0003319	Abnormality of the cervical spine	79718	TBL1XR1	ORPHA:487825
HP:0003319	Abnormality of the cervical spine	8314	BAP1	OMIM:619762
HP:0003319	Abnormality of the cervical spine	50485	SMARCAL1	ORPHA:1830
HP:0003319	Abnormality of the cervical spine	50485	SMARCAL1	OMIM:242900
HP:0003319	Abnormality of the cervical spine	9968	MED12	OMIM:305450
HP:0003319	Abnormality of the cervical spine	79728	PALB2	OMIM:610832
HP:0003319	Abnormality of the cervical spine	6925	TCF4	OMIM:610954
HP:0003319	Abnormality of the cervical spine	6925	TCF4	ORPHA:2896
HP:0003319	Abnormality of the cervical spine	2316	FLNA	OMIM:304120
HP:0003319	Abnormality of the cervical spine	91949	COG7	ORPHA:79333
HP:0003319	Abnormality of the cervical spine	91949	COG7	OMIM:608779
HP:0003319	Abnormality of the cervical spine	6473	SHOX	ORPHA:314795
HP:0003319	Abnormality of the cervical spine	124583	CANT1	OMIM:251450
HP:0003319	Abnormality of the cervical spine	124583	CANT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	56975	FAM20C	ORPHA:1832
HP:0003319	Abnormality of the cervical spine	56975	FAM20C	OMIM:259775
HP:0003319	Abnormality of the cervical spine	2556	GABRA3	OMIM:301091
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:178110
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:618469
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:193700
HP:0003319	Abnormality of the cervical spine	4621	MYH3	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	2239	GPC4	ORPHA:373
HP:0003319	Abnormality of the cervical spine	2719	GPC3	ORPHA:373
HP:0003319	Abnormality of the cervical spine	55120	FANCL	OMIM:614083
HP:0003319	Abnormality of the cervical spine	3423	IDS	OMIM:309900
HP:0003319	Abnormality of the cervical spine	259232	NALCN	OMIM:616266
HP:0003319	Abnormality of the cervical spine	259232	NALCN	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	259232	NALCN	ORPHA:371364
HP:0003319	Abnormality of the cervical spine	23483	TGDS	OMIM:616145
HP:0003319	Abnormality of the cervical spine	2260	FGFR1	OMIM:166250
HP:0003319	Abnormality of the cervical spine	25836	NIPBL	OMIM:122470
HP:0003319	Abnormality of the cervical spine	25836	NIPBL	ORPHA:199
HP:0003319	Abnormality of the cervical spine	2720	GLB1	OMIM:230500
HP:0003319	Abnormality of the cervical spine	7476	WNT7A	OMIM:276820
HP:0003319	Abnormality of the cervical spine	7476	WNT7A	ORPHA:2879
HP:0003319	Abnormality of the cervical spine	2317	FLNB	OMIM:272460
HP:0003319	Abnormality of the cervical spine	2317	FLNB	OMIM:108721
HP:0003319	Abnormality of the cervical spine	2317	FLNB	OMIM:108720
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:79443
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:79444
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:94089
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:612463
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:612462
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:103580
HP:0003319	Abnormality of the cervical spine	6135	RPL11	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6138	RPL15	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6229	RPS24	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6125	RPL5	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6204	RPS10	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6224	RPS20	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6165	RPL35A	ORPHA:124
HP:0003319	Abnormality of the cervical spine	2623	GATA1	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6223	RPS19	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6223	RPS19	OMIM:105650
HP:0003319	Abnormality of the cervical spine	6232	RPS27	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6231	RPS26	ORPHA:124
HP:0003319	Abnormality of the cervical spine	11224	RPL35	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6160	RPL31	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6218	RPS17	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6201	RPS7	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6155	RPL27	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6154	RPL26	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6210	RPS15A	ORPHA:124
HP:0003319	Abnormality of the cervical spine	90121	TSR2	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6141	RPL18	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6235	RPS29	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6234	RPS28	ORPHA:124
HP:0003319	Abnormality of the cervical spine	51816	ADA2	ORPHA:124
HP:0003319	Abnormality of the cervical spine	3845	KRAS	OMIM:600268
HP:0003319	Abnormality of the cervical spine	3845	KRAS	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	6261	RYR1	OMIM:619542
HP:0003319	Abnormality of the cervical spine	9742	IFT140	OMIM:266920
HP:0003319	Abnormality of the cervical spine	54101	RIPK4	OMIM:263650
HP:0003319	Abnormality of the cervical spine	26173	INTS1	OMIM:618571
HP:0003319	Abnormality of the cervical spine	9427	ECEL1	OMIM:615065
HP:0003319	Abnormality of the cervical spine	93587	TRMT10A	OMIM:616033
HP:0003319	Abnormality of the cervical spine	93587	TRMT10A	ORPHA:391408
HP:0003319	Abnormality of the cervical spine	29968	PSAT1	OMIM:616038
HP:0003319	Abnormality of the cervical spine	29968	PSAT1	ORPHA:284417
HP:0003319	Abnormality of the cervical spine	5426	POLE	OMIM:618336
HP:0003319	Abnormality of the cervical spine	6654	SOS1	OMIM:610733
HP:0003319	Abnormality of the cervical spine	54808	DYM	ORPHA:239
HP:0003319	Abnormality of the cervical spine	54808	DYM	OMIM:607326
HP:0003319	Abnormality of the cervical spine	54808	DYM	OMIM:223800
HP:0003319	Abnormality of the cervical spine	2879	GPX4	OMIM:250220
HP:0003319	Abnormality of the cervical spine	9949	AMMECR1	OMIM:300990
HP:0003319	Abnormality of the cervical spine	22827	PUF60	ORPHA:508498
HP:0003319	Abnormality of the cervical spine	22827	PUF60	ORPHA:508488
HP:0003319	Abnormality of the cervical spine	22827	PUF60	OMIM:615583
HP:0003319	Abnormality of the cervical spine	65992	DDRGK1	OMIM:602557
HP:0003319	Abnormality of the cervical spine	65992	DDRGK1	ORPHA:93352
HP:0003319	Abnormality of the cervical spine	10466	COG5	ORPHA:263487
HP:0003319	Abnormality of the cervical spine	6909	TBX2	OMIM:618223
HP:0003319	Abnormality of the cervical spine	2187	FANCB	OMIM:300514
HP:0003319	Abnormality of the cervical spine	23314	SATB2	ORPHA:251028
HP:0003319	Abnormality of the cervical spine	8675	STX16	ORPHA:94089
HP:0003319	Abnormality of the cervical spine	55869	HDAC8	OMIM:300882
HP:0003319	Abnormality of the cervical spine	55869	HDAC8	ORPHA:199
HP:0003319	Abnormality of the cervical spine	91754	NEK9	OMIM:617022
HP:0003319	Abnormality of the cervical spine	55215	FANCI	OMIM:609053
HP:0003319	Abnormality of the cervical spine	5010	CLDN11	OMIM:619328
HP:0003319	Abnormality of the cervical spine	176	ACAN	OMIM:612813
HP:0003319	Abnormality of the cervical spine	176	ACAN	ORPHA:171866
HP:0003319	Abnormality of the cervical spine	9126	SMC3	OMIM:610759
HP:0003319	Abnormality of the cervical spine	9126	SMC3	ORPHA:199
HP:0003319	Abnormality of the cervical spine	79068	FTO	OMIM:612938
HP:0003319	Abnormality of the cervical spine	3417	IDH1	ORPHA:99646
HP:0003319	Abnormality of the cervical spine	4763	NF1	OMIM:601321
HP:0003319	Abnormality of the cervical spine	3039	HBA1	ORPHA:98791
HP:0003319	Abnormality of the cervical spine	3040	HBA2	ORPHA:98791
HP:0003319	Abnormality of the cervical spine	10940	POP1	OMIM:617396
HP:0003319	Abnormality of the cervical spine	54496	PRMT7	OMIM:617157
HP:0003319	Abnormality of the cervical spine	54496	PRMT7	ORPHA:464288
HP:0003319	Abnormality of the cervical spine	165	AEBP1	OMIM:618000
HP:0003319	Abnormality of the cervical spine	8260	NAA10	OMIM:300855
HP:0003319	Abnormality of the cervical spine	10082	GPC6	OMIM:258315
HP:0003319	Abnormality of the cervical spine	23389	MED13L	ORPHA:369891
HP:0003319	Abnormality of the cervical spine	23389	MED13L	OMIM:616789
HP:0003319	Abnormality of the cervical spine	1312	COMT	ORPHA:567
HP:0003319	Abnormality of the cervical spine	221037	JMJD1C	ORPHA:567
HP:0003319	Abnormality of the cervical spine	2812	GP1BB	ORPHA:567
HP:0003319	Abnormality of the cervical spine	6239	RREB1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	6899	TBX1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	7290	HIRA	ORPHA:567
HP:0003319	Abnormality of the cervical spine	9632	SEC24C	ORPHA:567
HP:0003319	Abnormality of the cervical spine	7353	UFD1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	421	ARVCF	ORPHA:567
HP:0003319	Abnormality of the cervical spine	3265	HRAS	ORPHA:3071
HP:0003319	Abnormality of the cervical spine	3265	HRAS	OMIM:218040
HP:0003319	Abnormality of the cervical spine	7319	UBE2A	OMIM:300860
HP:0003319	Abnormality of the cervical spine	3977	LIFR	OMIM:601559
HP:0003319	Abnormality of the cervical spine	5277	PIGA	OMIM:300868
HP:0003319	Abnormality of the cervical spine	9244	CRLF1	OMIM:272430
HP:0003319	Abnormality of the cervical spine	285489	DOK7	OMIM:618389
HP:0003319	Abnormality of the cervical spine	29895	MYL11	OMIM:619110
HP:0003319	Abnormality of the cervical spine	145173	B3GLCT	OMIM:261540
HP:0003319	Abnormality of the cervical spine	145173	B3GLCT	ORPHA:709
HP:0003319	Abnormality of the cervical spine	26005	C2CD3	ORPHA:434179
HP:0003319	Abnormality of the cervical spine	6513	SLC2A1	ORPHA:168577
HP:0003319	Abnormality of the cervical spine	80036	TRPM3	OMIM:620224
HP:0003319	Abnormality of the cervical spine	4927	NUP88	OMIM:618393
HP:0003319	Abnormality of the cervical spine	3636	INPPL1	OMIM:258480
HP:0003319	Abnormality of the cervical spine	3636	INPPL1	ORPHA:3144
HP:0003319	Abnormality of the cervical spine	203068	TUBB	OMIM:156610
HP:0003319	Abnormality of the cervical spine	6872	TAF1	OMIM:300966
HP:0003319	Abnormality of the cervical spine	51715	RAB23	OMIM:201000
HP:0003319	Abnormality of the cervical spine	23233	EXOC6B	OMIM:618395
HP:0003319	Abnormality of the cervical spine	2273	FHL1	OMIM:300718
HP:0003319	Abnormality of the cervical spine	2273	FHL1	OMIM:300696
HP:0003319	Abnormality of the cervical spine	2273	FHL1	ORPHA:98863
HP:0003319	Abnormality of the cervical spine	226	ALDOA	OMIM:611881
HP:0003319	Abnormality of the cervical spine	8450	CUL4B	ORPHA:85293
HP:0003319	Abnormality of the cervical spine	23169	SLC35D1	OMIM:269250
HP:0003319	Abnormality of the cervical spine	23169	SLC35D1	ORPHA:3144
HP:0003319	Abnormality of the cervical spine	84919	PPP1R15B	ORPHA:391408
HP:0003319	Abnormality of the cervical spine	4222	MEOX1	OMIM:214300
HP:0003319	Abnormality of the cervical spine	4222	MEOX1	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	2799	GNS	OMIM:252940
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:613707
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:613706
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:115150
HP:0003319	Abnormality of the cervical spine	673	BRAF	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:163950
HP:0003319	Abnormality of the cervical spine	126792	B3GALT6	OMIM:271640
HP:0003319	Abnormality of the cervical spine	89970	RSPRY1	ORPHA:457395
HP:0003319	Abnormality of the cervical spine	89970	RSPRY1	OMIM:616723
HP:0003319	Abnormality of the cervical spine	2733	GLE1	OMIM:611890
HP:0003319	Abnormality of the cervical spine	2733	GLE1	ORPHA:1486
HP:0003319	Abnormality of the cervical spine	51594	NBAS	OMIM:614800
HP:0003319	Abnormality of the cervical spine	168667	BMPER	ORPHA:66637
HP:0003319	Abnormality of the cervical spine	168667	BMPER	OMIM:608022
HP:0003319	Abnormality of the cervical spine	54187	NANS	OMIM:610442
HP:0003319	Abnormality of the cervical spine	4683	NBN	ORPHA:647
HP:0003319	Abnormality of the cervical spine	7474	WNT5A	OMIM:180700
HP:0003319	Abnormality of the cervical spine	7474	WNT5A	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	1855	DVL1	OMIM:180700
HP:0003319	Abnormality of the cervical spine	1855	DVL1	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	5727	PTCH1	ORPHA:77301
HP:0003319	Abnormality of the cervical spine	9897	WASHC5	ORPHA:7
HP:0003319	Abnormality of the cervical spine	28952	CCDC22	ORPHA:7
HP:0003319	Abnormality of the cervical spine	6913	TBX15	OMIM:260660
HP:0003319	Abnormality of the cervical spine	6913	TBX15	ORPHA:93333
HP:0003319	Abnormality of the cervical spine	84842	HPDL	OMIM:619026
HP:0003319	Abnormality of the cervical spine	8022	LHX3	ORPHA:231720
HP:0003319	Abnormality of the cervical spine	8022	LHX3	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	8022	LHX3	OMIM:221750
HP:0003319	Abnormality of the cervical spine	51109	RDH11	ORPHA:436245
HP:0003319	Abnormality of the cervical spine	8243	SMC1A	OMIM:300590
HP:0003319	Abnormality of the cervical spine	8243	SMC1A	ORPHA:199
HP:0003319	Abnormality of the cervical spine	6399	TRAPPC2	ORPHA:93284
HP:0003319	Abnormality of the cervical spine	6399	TRAPPC2	OMIM:313400
HP:0003319	Abnormality of the cervical spine	9131	AIFM1	OMIM:300232
HP:0003319	Abnormality of the cervical spine	324	APC	ORPHA:261584
HP:0003319	Abnormality of the cervical spine	5393	EXOSC9	OMIM:618065
HP:0003319	Abnormality of the cervical spine	26128	KIFBP	OMIM:609460
HP:0003319	Abnormality of the cervical spine	23556	PIGN	ORPHA:2059
HP:0003319	Abnormality of the cervical spine	23556	PIGN	ORPHA:280633
HP:0003319	Abnormality of the cervical spine	161742	SPRED1	OMIM:611431
HP:0003319	Abnormality of the cervical spine	5894	RAF1	OMIM:611554
HP:0003319	Abnormality of the cervical spine	5894	RAF1	OMIM:611553
HP:0003319	Abnormality of the cervical spine	57539	WDR35	OMIM:613610
HP:0003319	Abnormality of the cervical spine	118429	ANTXR2	ORPHA:2176
HP:0003319	Abnormality of the cervical spine	1303	COL12A1	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	1291	COL6A1	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	1292	COL6A2	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	1293	COL6A3	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	58	ACTA1	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	7169	TPM2	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	7169	TPM2	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	4703	NEB	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	10324	KLHL41	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	56203	LMOD3	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	1073	CFL2	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	4010	LMX1B	ORPHA:495818
HP:0003319	Abnormality of the cervical spine	6812	STXBP1	ORPHA:495818
HP:0003319	Abnormality of the cervical spine	80055	PGAP1	OMIM:615802
HP:0003319	Abnormality of the cervical spine	10847	SRCAP	ORPHA:2044
HP:0003319	Abnormality of the cervical spine	10847	SRCAP	OMIM:136140
HP:0003319	Abnormality of the cervical spine	1717	DHCR7	ORPHA:818
HP:0003319	Abnormality of the cervical spine	55780	ERMARD	ORPHA:75857
HP:0003319	Abnormality of the cervical spine	10978	CLP1	OMIM:615803
HP:0003319	Abnormality of the cervical spine	26153	KIF26A	OMIM:620156
HP:0003319	Abnormality of the cervical spine	9382	COG1	OMIM:611209
HP:0003319	Abnormality of the cervical spine	9382	COG1	ORPHA:263508
HP:0003319	Abnormality of the cervical spine	1146	CHRNG	OMIM:265000
HP:0003319	Abnormality of the cervical spine	84992	PIGY	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	84992	PIGY	OMIM:616809
HP:0003319	Abnormality of the cervical spine	84720	PIGO	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	93210	PGAP3	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	284098	PIGW	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	27315	PGAP2	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	55650	PIGV	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	9487	PIGL	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	3899	AFF3	OMIM:619297
HP:0003319	Abnormality of the cervical spine	1009	CDH11	ORPHA:1299
HP:0003319	Abnormality of the cervical spine	1954	MEGF8	OMIM:614976
HP:0003319	Abnormality of the cervical spine	79867	TCTN2	OMIM:613885
HP:0003319	Abnormality of the cervical spine	1302	COL11A2	ORPHA:2021
HP:0003319	Abnormality of the cervical spine	1302	COL11A2	ORPHA:1427
HP:0003319	Abnormality of the cervical spine	79053	ALG8	OMIM:608104
HP:0003319	Abnormality of the cervical spine	3756	KCNH1	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	3782	KCNN3	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	6911	TBX6	OMIM:122600
HP:0003319	Abnormality of the cervical spine	6911	TBX6	ORPHA:1797
HP:0003319	Abnormality of the cervical spine	374654	KIF7	OMIM:607131
HP:0003319	Abnormality of the cervical spine	26227	PHGDH	OMIM:256520
HP:0003319	Abnormality of the cervical spine	9653	HS2ST1	OMIM:619194
HP:0003319	Abnormality of the cervical spine	392255	GDF6	OMIM:118100
HP:0003319	Abnormality of the cervical spine	392255	GDF6	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	4593	MUSK	OMIM:208150
HP:0003319	Abnormality of the cervical spine	5626	PROP1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	89884	LHX4	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	5449	POU1F1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	8820	HESX1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	1857	DVL3	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	1857	DVL3	OMIM:616894
HP:0003319	Abnormality of the cervical spine	2535	FZD2	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	285175	UNC80	OMIM:616801
HP:0003319	Abnormality of the cervical spine	285175	UNC80	ORPHA:371364
HP:0003319	Abnormality of the cervical spine	54499	TMCO1	OMIM:213980
HP:0003319	Abnormality of the cervical spine	54499	TMCO1	ORPHA:1394
HP:0003319	Abnormality of the cervical spine	11128	POLR3A	OMIM:264090
HP:0003319	Abnormality of the cervical spine	55165	CEP55	OMIM:236500
HP:0003319	Abnormality of the cervical spine	157570	ESCO2	ORPHA:3103
HP:0003319	Abnormality of the cervical spine	157570	ESCO2	OMIM:268300
HP:0003319	Abnormality of the cervical spine	10236	HNRNPR	OMIM:620073
HP:0003319	Abnormality of the cervical spine	4089	SMAD4	OMIM:139210
HP:0003319	Abnormality of the cervical spine	5594	MAPK1	OMIM:619087
HP:0003319	Abnormality of the cervical spine	388015	RTL1	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	8788	DLK1	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	55384	MEG3	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	3911	LAMA5	OMIM:620076
HP:0003319	Abnormality of the cervical spine	145873	MESP2	OMIM:608681
HP:0003319	Abnormality of the cervical spine	145873	MESP2	OMIM:277300
HP:0003319	Abnormality of the cervical spine	145873	MESP2	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	546	ATRX	OMIM:309580
HP:0003319	Abnormality of the cervical spine	7140	TNNT3	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	7136	TNNI2	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	6611	SMS	OMIM:309583
HP:0003319	Abnormality of the cervical spine	51322	WAC	OMIM:616708
HP:0003319	Abnormality of the cervical spine	9321	TRIP11	ORPHA:93299
HP:0003319	Abnormality of the cervical spine	9321	TRIP11	OMIM:200600
HP:0003319	Abnormality of the cervical spine	2010	EMD	ORPHA:98863
HP:0003319	Abnormality of the cervical spine	701	BUB1B	OMIM:257300
HP:0003319	Abnormality of the cervical spine	10682	EBP	OMIM:302960
HP:0003319	Abnormality of the cervical spine	5781	PTPN11	OMIM:151100
HP:0003319	Abnormality of the cervical spine	5781	PTPN11	OMIM:163950
HP:0003319	Abnormality of the cervical spine	29123	ANKRD11	OMIM:148050
HP:0003319	Abnormality of the cervical spine	29123	ANKRD11	ORPHA:2332
HP:0003319	Abnormality of the cervical spine	2702	GJA5	OMIM:612474
HP:0003319	Abnormality of the cervical spine	2703	GJA8	OMIM:612474
HP:0003319	Abnormality of the cervical spine	867	CBL	OMIM:613563
HP:0003319	Abnormality of the cervical spine	51025	PAM16	OMIM:613320
HP:0003319	Abnormality of the cervical spine	84667	HES7	OMIM:613686
HP:0003319	Abnormality of the cervical spine	84667	HES7	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	9573	GDF3	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	4352	MPL	ORPHA:3319
HP:0003319	Abnormality of the cervical spine	7066	THPO	ORPHA:3319
HP:0003319	Abnormality of the cervical spine	27152	INTU	OMIM:617925
HP:0003319	Abnormality of the cervical spine	27152	INTU	OMIM:617926
HP:0003319	Abnormality of the cervical spine	2245	FGD1	ORPHA:915
HP:0003319	Abnormality of the cervical spine	2245	FGD1	OMIM:305400
HP:0003319	Abnormality of the cervical spine	90417	KNSTRN	OMIM:613328
HP:0003319	Abnormality of the cervical spine	5293	PIK3CD	OMIM:613328
HP:0003319	Abnormality of the cervical spine	6888	TALDO1	OMIM:606003
HP:0003319	Abnormality of the cervical spine	2261	FGFR3	OMIM:187600
HP:0003319	Abnormality of the cervical spine	55906	ZC4H2	OMIM:301041
HP:0003319	Abnormality of the cervical spine	55906	ZC4H2	OMIM:314580
HP:0003319	Abnormality of the cervical spine	27238	GPKOW	ORPHA:2570
HP:0003319	Abnormality of the cervical spine	579	NKX3-2	OMIM:613330
HP:0003319	Abnormality of the cervical spine	100151683	RNU4ATAC	OMIM:210710
HP:0003319	Abnormality of the cervical spine	100151683	RNU4ATAC	ORPHA:2636
HP:0003319	Abnormality of the cervical spine	2335	FN1	ORPHA:93315
HP:0003319	Abnormality of the cervical spine	9759	HDAC4	ORPHA:1001
HP:0003319	Abnormality of the cervical spine	4854	NOTCH3	OMIM:130720
HP:0003319	Abnormality of the cervical spine	4854	NOTCH3	ORPHA:2789
HP:0003319	Abnormality of the cervical spine	113179	ADAT3	ORPHA:363528
HP:0003319	Abnormality of the cervical spine	3313	HSPA9	OMIM:616854
HP:0003319	Abnormality of the cervical spine	4893	NRAS	OMIM:613224
HP:0003319	Abnormality of the cervical spine	91869	RFT1	OMIM:612015
HP:0003319	Abnormality of the cervical spine	10982	MAPRE2	OMIM:616734
HP:0003319	Abnormality of the cervical spine	10683	DLL3	OMIM:277300
HP:0003319	Abnormality of the cervical spine	10683	DLL3	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	4204	MECP2	OMIM:300055
HP:0003319	Abnormality of the cervical spine	2068	ERCC2	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2067	ERCC1	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2074	ERCC6	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2073	ERCC5	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	5925	RB1	ORPHA:1587
HP:0003319	Abnormality of the cervical spine	23511	NUP188	OMIM:618804
HP:0003319	Abnormality of the cervical spine	134701	RIPPLY2	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	3955	LFNG	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	5605	MAP2K2	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	64131	XYLT1	OMIM:615777
HP:0003319	Abnormality of the cervical spine	64131	XYLT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	10943	MSL3	OMIM:301032
HP:0003319	Abnormality of the cervical spine	5718	PSMD12	ORPHA:529962
HP:0003319	Abnormality of the cervical spine	2186	BPTF	ORPHA:529962
HP:0003319	Abnormality of the cervical spine	55969	RAB5IF	OMIM:616994
HP:0003319	Abnormality of the cervical spine	6638	SNRPN	ORPHA:177907
HP:0003319	Abnormality of the cervical spine	2313	FLI1	ORPHA:2308
HP:0003319	Abnormality of the cervical spine	29980	DONSON	OMIM:251230
HP:0003319	Abnormality of the cervical spine	60	ACTB	OMIM:243310
HP:0003319	Abnormality of the cervical spine	60	ACTB	ORPHA:2995
HP:0003319	Abnormality of the cervical spine	23476	BRD4	ORPHA:199
HP:0003319	Abnormality of the cervical spine	5885	RAD21	ORPHA:199
HP:0003319	Abnormality of the cervical spine	71	ACTG1	OMIM:614583
HP:0003319	Abnormality of the cervical spine	71	ACTG1	ORPHA:2995
HP:0003319	Abnormality of the cervical spine	10367	MICU1	OMIM:615673
HP:0003319	Abnormality of the cervical spine	2588	GALNS	OMIM:253000
HP:0003319	Abnormality of the cervical spine	1861	TOR1A	OMIM:618947
HP:0003319	Abnormality of the cervical spine	54361	WNT4	ORPHA:247768
HP:0003319	Abnormality of the cervical spine	91461	PKDCC	OMIM:618821
HP:0003319	Abnormality of the cervical spine	6182	MRPL12	OMIM:618951
HP:0003319	Abnormality of the cervical spine	202018	TAPT1	OMIM:616897
HP:0003319	Abnormality of the cervical spine	1806	DPYD	ORPHA:1675
HP:0003319	Abnormality of the cervical spine	28957	MRPS28	OMIM:618958
HP:0003319	Abnormality of the cervical spine	5500	PPP1CB	OMIM:617506
HP:0003319	Abnormality of the cervical spine	9786	KIAA0586	OMIM:616546
HP:0003319	Abnormality of the cervical spine	84700	MYO18B	OMIM:616549
HP:0003319	Abnormality of the cervical spine	10225	CD96	ORPHA:1308
HP:0003319	Abnormality of the cervical spine	55790	CSGALNACT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	26229	B3GAT3	OMIM:245600
HP:0003319	Abnormality of the cervical spine	83452	RAB33B	OMIM:615222
HP:0003319	Abnormality of the cervical spine	22861	NLRP1	OMIM:615225
HP:0003319	Abnormality of the cervical spine	64221	ROBO3	ORPHA:2744
HP:0003319	Abnormality of the cervical spine	1630	DCC	ORPHA:2744
HP:0003319	Abnormality of the cervical spine	6655	SOS2	OMIM:616559
HP:0003319	Abnormality of the cervical spine	64412	GZF1	OMIM:617662
HP:0003319	Abnormality of the cervical spine	113189	CHST14	ORPHA:2953
HP:0003319	Abnormality of the cervical spine	29940	DSE	ORPHA:2953
HP:0003319	Abnormality of the cervical spine	2137	EXTL3	ORPHA:508533
HP:0003319	Abnormality of the cervical spine	10262	SF3B4	OMIM:154400
HP:0003319	Abnormality of the cervical spine	9150	CTDP1	ORPHA:48431
HP:0003319	Abnormality of the cervical spine	1387	CREBBP	ORPHA:353277
HP:0003319	Abnormality of the cervical spine	1387	CREBBP	ORPHA:353281
HP:0003319	Abnormality of the cervical spine	2263	FGFR2	OMIM:123500
HP:0003319	Abnormality of the cervical spine	1859	DYRK1A	ORPHA:464311
HP:0003319	Abnormality of the cervical spine	6775	STAT4	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	3560	IL2RB	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	79722	ANKRD55	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	26191	PTPN22	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	919	CD247	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	3559	IL2RA	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	5771	PTPN2	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	9907	AP5Z1	ORPHA:306511
HP:0003319	Abnormality of the cervical spine	2033	EP300	ORPHA:353284
HP:0003319	Abnormality of the cervical spine	4921	DDR2	OMIM:271665
HP:0003319	Abnormality of the cervical spine	3425	IDUA	OMIM:607014
HP:0003319	Abnormality of the cervical spine	8567	MADD	OMIM:619004
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	OMIM:184250
HP:0003319	Abnormality of the cervical spine	415	ARSL	ORPHA:79345
HP:0003319	Abnormality of the cervical spine	4313	MMP2	OMIM:259600
HP:0003319	Abnormality of the cervical spine	2517	FUCA1	OMIM:230000
HP:0003319	Abnormality of the cervical spine	57647	DHX37	OMIM:618731
HP:0003319	Abnormality of the cervical spine	29925	GMPPB	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	79147	FKRP	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	29954	POMT2	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	9215	LARGE1	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	10585	POMT1	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	2736	GLI2	ORPHA:95494
HP:0003319	Abnormality of the cervical spine	3170	FOXA2	ORPHA:95494
HP:0003319	Abnormality of the cervical spine	5015	OTX2	ORPHA:95494
HP:0003319	Abnormality of the cervical spine	8838	CCN6	OMIM:208230
HP:0003319	Abnormality of the cervical spine	1144	CHRND	OMIM:253290
HP:0003319	Abnormality of the cervical spine	1134	CHRNA1	OMIM:253290
HP:0003319	Abnormality of the cervical spine	347734	SLC35B2	OMIM:620269
HP:0003319	Abnormality of the cervical spine	6497	SKI	OMIM:182212
HP:0003319	Abnormality of the cervical spine	5654	HTRA1	ORPHA:199354
HP:0003319	Abnormality of the cervical spine	1311	COMP	ORPHA:750
HP:0003319	Abnormality of the cervical spine	4088	SMAD3	OMIM:613795
HP:0003319	Abnormality of the cervical spine	7046	TGFBR1	OMIM:609192
HP:0003319	Abnormality of the cervical spine	633	BGN	OMIM:300989
HP:0003319	Abnormality of the cervical spine	7043	TGFB3	OMIM:615582
HP:0003320	C1-C2 subluxation	4921	DDR2	OMIM:271665
HP:0003320	C1-C2 subluxation	3425	IDUA	OMIM:607014
HP:0003320	C1-C2 subluxation	8567	MADD	OMIM:619004
HP:0003320	C1-C2 subluxation	1280	COL2A1	OMIM:184250
HP:0003320	C1-C2 subluxation	415	ARSL	ORPHA:79345
HP:0003320	C1-C2 subluxation	4313	MMP2	OMIM:259600
HP:0003321	Biconcave flattened vertebrae	1277	COL1A1	OMIM:166220
HP:0003321	Biconcave flattened vertebrae	1277	COL1A1	OMIM:166200
HP:0003321	Biconcave flattened vertebrae	1278	COL1A2	OMIM:166220
HP:0003458	EMG: myopathic abnormalities	58	ACTA1	ORPHA:97240
HP:0003458	EMG: myopathic abnormalities	58	ACTA1	ORPHA:171433
HP:0003458	EMG: myopathic abnormalities	58	ACTA1	OMIM:161800
HP:0003458	EMG: myopathic abnormalities	58	ACTA1	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	291	SLC25A4	ORPHA:254892
HP:0003458	EMG: myopathic abnormalities	291	SLC25A4	OMIM:609283
HP:0003458	EMG: myopathic abnormalities	291	SLC25A4	OMIM:615418
HP:0003458	EMG: myopathic abnormalities	5428	POLG	ORPHA:254892
HP:0003458	EMG: myopathic abnormalities	5428	POLG	OMIM:258450
HP:0003458	EMG: myopathic abnormalities	5428	POLG	OMIM:157640
HP:0003458	EMG: myopathic abnormalities	56652	TWNK	ORPHA:254892
HP:0003458	EMG: myopathic abnormalities	56652	TWNK	OMIM:609286
HP:0003458	EMG: myopathic abnormalities	11232	POLG2	ORPHA:254892
HP:0003458	EMG: myopathic abnormalities	50484	RRM2B	ORPHA:254892
HP:0003458	EMG: myopathic abnormalities	353116	RILPL1	OMIM:619790
HP:0003458	EMG: myopathic abnormalities	10020	GNE	OMIM:605820
HP:0003458	EMG: myopathic abnormalities	10020	GNE	ORPHA:602
HP:0003458	EMG: myopathic abnormalities	1410	CRYAB	OMIM:608810
HP:0003458	EMG: myopathic abnormalities	1410	CRYAB	ORPHA:399058
HP:0003458	EMG: myopathic abnormalities	4747	NEFL	ORPHA:99939
HP:0003458	EMG: myopathic abnormalities	8291	DYSF	OMIM:253601
HP:0003458	EMG: myopathic abnormalities	4703	NEB	OMIM:256030
HP:0003458	EMG: myopathic abnormalities	4703	NEB	ORPHA:171433
HP:0003458	EMG: myopathic abnormalities	4703	NEB	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	4703	NEB	ORPHA:399103
HP:0003458	EMG: myopathic abnormalities	274	BIN1	ORPHA:169189
HP:0003458	EMG: myopathic abnormalities	274	BIN1	OMIM:255200
HP:0003458	EMG: myopathic abnormalities	64419	MTMR14	ORPHA:169189
HP:0003458	EMG: myopathic abnormalities	64419	MTMR14	OMIM:160150
HP:0003458	EMG: myopathic abnormalities	4618	MYF6	ORPHA:169189
HP:0003458	EMG: myopathic abnormalities	1785	DNM2	ORPHA:169189
HP:0003458	EMG: myopathic abnormalities	1785	DNM2	OMIM:160150
HP:0003458	EMG: myopathic abnormalities	6261	RYR1	ORPHA:169189
HP:0003458	EMG: myopathic abnormalities	6261	RYR1	ORPHA:424107
HP:0003458	EMG: myopathic abnormalities	4625	MYH7	ORPHA:59135
HP:0003458	EMG: myopathic abnormalities	4625	MYH7	OMIM:255160
HP:0003458	EMG: myopathic abnormalities	4625	MYH7	OMIM:608358
HP:0003458	EMG: myopathic abnormalities	4625	MYH7	ORPHA:437572
HP:0003458	EMG: myopathic abnormalities	6442	SGCA	OMIM:608099
HP:0003458	EMG: myopathic abnormalities	1303	COL12A1	ORPHA:75840
HP:0003458	EMG: myopathic abnormalities	1303	COL12A1	ORPHA:610
HP:0003458	EMG: myopathic abnormalities	1291	COL6A1	ORPHA:75840
HP:0003458	EMG: myopathic abnormalities	1291	COL6A1	ORPHA:610
HP:0003458	EMG: myopathic abnormalities	1292	COL6A2	ORPHA:75840
HP:0003458	EMG: myopathic abnormalities	1292	COL6A2	ORPHA:610
HP:0003458	EMG: myopathic abnormalities	1293	COL6A3	ORPHA:75840
HP:0003458	EMG: myopathic abnormalities	1293	COL6A3	ORPHA:610
HP:0003458	EMG: myopathic abnormalities	9499	MYOT	ORPHA:266
HP:0003458	EMG: myopathic abnormalities	9499	MYOT	ORPHA:98911
HP:0003458	EMG: myopathic abnormalities	5339	PLEC	ORPHA:254361
HP:0003458	EMG: myopathic abnormalities	6840	SVIL	OMIM:619040
HP:0003458	EMG: myopathic abnormalities	7273	TTN	ORPHA:178464
HP:0003458	EMG: myopathic abnormalities	7273	TTN	OMIM:608807
HP:0003458	EMG: myopathic abnormalities	7273	TTN	ORPHA:609
HP:0003458	EMG: myopathic abnormalities	7273	TTN	OMIM:600334
HP:0003458	EMG: myopathic abnormalities	3714	JAG2	OMIM:619566
HP:0003458	EMG: myopathic abnormalities	10324	KLHL41	ORPHA:171433
HP:0003458	EMG: myopathic abnormalities	10324	KLHL41	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	7170	TPM3	ORPHA:171433
HP:0003458	EMG: myopathic abnormalities	7170	TPM3	OMIM:609284
HP:0003458	EMG: myopathic abnormalities	7170	TPM3	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	84466	MEGF10	OMIM:614399
HP:0003458	EMG: myopathic abnormalities	11155	LDB3	OMIM:609452
HP:0003458	EMG: myopathic abnormalities	2260	FGFR1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	28514	DLL1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	2253	FGF8	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	6496	SIX3	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	7050	TGIF1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	4838	NODAL	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	6469	SHH	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	51684	SUFU	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	7546	ZIC2	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	2619	GAS1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	84976	DISP1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	2736	GLI2	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	8928	FOXH1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	5727	PTCH1	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	50937	CDON	ORPHA:280200
HP:0003458	EMG: myopathic abnormalities	2273	FHL1	OMIM:300696
HP:0003458	EMG: myopathic abnormalities	2273	FHL1	ORPHA:98863
HP:0003458	EMG: myopathic abnormalities	79147	FKRP	OMIM:606612
HP:0003458	EMG: myopathic abnormalities	79147	FKRP	ORPHA:370980
HP:0003458	EMG: myopathic abnormalities	8878	SQSTM1	OMIM:617158
HP:0003458	EMG: myopathic abnormalities	8878	SQSTM1	ORPHA:603
HP:0003458	EMG: myopathic abnormalities	146862	UNC45B	OMIM:619178
HP:0003458	EMG: myopathic abnormalities	22954	TRIM32	OMIM:254110
HP:0003458	EMG: myopathic abnormalities	7084	TK2	OMIM:609560
HP:0003458	EMG: myopathic abnormalities	64856	VWA1	OMIM:619216
HP:0003458	EMG: myopathic abnormalities	4604	MYBPC1	OMIM:618524
HP:0003458	EMG: myopathic abnormalities	7072	TIA1	ORPHA:603
HP:0003458	EMG: myopathic abnormalities	29967	LRP12	OMIM:164310
HP:0003458	EMG: myopathic abnormalities	5351	PLOD1	ORPHA:1900
HP:0003458	EMG: myopathic abnormalities	128989	TANGO2	ORPHA:480864
HP:0003458	EMG: myopathic abnormalities	6329	SCN4A	ORPHA:684
HP:0003458	EMG: myopathic abnormalities	6329	SCN4A	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	2992	GYG1	ORPHA:263297
HP:0003458	EMG: myopathic abnormalities	2218	FKTN	ORPHA:370980
HP:0003458	EMG: myopathic abnormalities	729920	CRPPA	ORPHA:370980
HP:0003458	EMG: myopathic abnormalities	10585	POMT1	ORPHA:370980
HP:0003458	EMG: myopathic abnormalities	55154	MSTO1	ORPHA:502423
HP:0003458	EMG: myopathic abnormalities	9531	BAG3	OMIM:612954
HP:0003458	EMG: myopathic abnormalities	28976	ACAD9	ORPHA:99901
HP:0003458	EMG: myopathic abnormalities	6445	SGCG	ORPHA:353
HP:0003458	EMG: myopathic abnormalities	79784	MYH14	ORPHA:397744
HP:0003458	EMG: myopathic abnormalities	10755	GIPC1	OMIM:618940
HP:0003458	EMG: myopathic abnormalities	8087	FXR1	OMIM:618822
HP:0003458	EMG: myopathic abnormalities	259232	NALCN	ORPHA:371364
HP:0003458	EMG: myopathic abnormalities	285175	UNC80	ORPHA:371364
HP:0003458	EMG: myopathic abnormalities	55958	KLHL9	ORPHA:399081
HP:0003458	EMG: myopathic abnormalities	1674	DES	OMIM:601419
HP:0003458	EMG: myopathic abnormalities	60482	SLC5A7	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	4649	MYO9A	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	1305	COL13A1	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	1305	COL13A1	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	1103	CHAT	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	6576	SLC25A1	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	6843	VAMP1	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	375790	AGRN	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	375790	AGRN	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	127833	SYT2	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	6572	SLC18A3	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	6616	SNAP25	ORPHA:98914
HP:0003458	EMG: myopathic abnormalities	859	CAV3	ORPHA:488650
HP:0003458	EMG: myopathic abnormalities	859	CAV3	OMIM:123320
HP:0003458	EMG: myopathic abnormalities	51128	SAR1B	ORPHA:71
HP:0003458	EMG: myopathic abnormalities	9215	LARGE1	OMIM:608840
HP:0003458	EMG: myopathic abnormalities	1134	CHRNA1	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	4038	LRP4	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	1140	CHRNB1	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	1144	CHRND	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	1145	CHRNE	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	4593	MUSK	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	5913	RAPSN	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	221264	AK9	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	285489	DOK7	ORPHA:98913
HP:0003458	EMG: myopathic abnormalities	3178	HNRNPA1	ORPHA:52430
HP:0003458	EMG: myopathic abnormalities	7415	VCP	ORPHA:52430
HP:0003458	EMG: myopathic abnormalities	7415	VCP	ORPHA:329478
HP:0003458	EMG: myopathic abnormalities	3181	HNRNPA2B1	ORPHA:52430
HP:0003458	EMG: myopathic abnormalities	3920	LAMP2	OMIM:300257
HP:0003458	EMG: myopathic abnormalities	51099	ABHD5	ORPHA:98907
HP:0003458	EMG: myopathic abnormalities	84665	MYPN	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	7169	TPM2	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	390594	KBTBD13	ORPHA:171439
HP:0003458	EMG: myopathic abnormalities	844	CASQ1	ORPHA:2593
HP:0003458	EMG: myopathic abnormalities	84876	ORAI1	ORPHA:2593
HP:0003458	EMG: myopathic abnormalities	6786	STIM1	ORPHA:2593
HP:0003458	EMG: myopathic abnormalities	7138	TNNT1	ORPHA:98902
HP:0003458	EMG: myopathic abnormalities	2010	EMD	ORPHA:98863
HP:0003458	EMG: myopathic abnormalities	226	ALDOA	ORPHA:57
HP:0003458	EMG: myopathic abnormalities	8449	DHX16	OMIM:618733
HP:0003458	EMG: myopathic abnormalities	400916	CHCHD10	ORPHA:276435
HP:0003458	EMG: myopathic abnormalities	4000	LMNA	ORPHA:98855
HP:0003458	EMG: myopathic abnormalities	4000	LMNA	ORPHA:98853
HP:0003458	EMG: myopathic abnormalities	23534	TNPO3	OMIM:608423
HP:0003458	EMG: myopathic abnormalities	203859	ANO5	OMIM:611307
HP:0003458	EMG: myopathic abnormalities	203859	ANO5	ORPHA:206549
HP:0003458	EMG: myopathic abnormalities	9325	TRIP4	ORPHA:486815
HP:0003458	EMG: myopathic abnormalities	79188	TMEM43	ORPHA:98853
HP:0003458	EMG: myopathic abnormalities	23345	SYNE1	ORPHA:98853
HP:0003458	EMG: myopathic abnormalities	23224	SYNE2	ORPHA:98853
HP:0003323	Progressive muscle weakness	55670	PEX26	ORPHA:772
HP:0003323	Progressive muscle weakness	5824	PEX19	ORPHA:772
HP:0003323	Progressive muscle weakness	5828	PEX2	ORPHA:772
HP:0003323	Progressive muscle weakness	8504	PEX3	ORPHA:772
HP:0003323	Progressive muscle weakness	9409	PEX16	ORPHA:772
HP:0003323	Progressive muscle weakness	5190	PEX6	ORPHA:772
HP:0003323	Progressive muscle weakness	8799	PEX11B	ORPHA:772
HP:0003323	Progressive muscle weakness	5830	PEX5	ORPHA:772
HP:0003323	Progressive muscle weakness	5189	PEX1	ORPHA:772
HP:0003323	Progressive muscle weakness	5193	PEX12	ORPHA:772
HP:0003323	Progressive muscle weakness	5194	PEX13	ORPHA:772
HP:0003323	Progressive muscle weakness	5194	PEX13	OMIM:614885
HP:0003323	Progressive muscle weakness	5195	PEX14	ORPHA:772
HP:0003323	Progressive muscle weakness	5192	PEX10	ORPHA:772
HP:0003323	Progressive muscle weakness	274	BIN1	ORPHA:169186
HP:0003323	Progressive muscle weakness	10290	SPEG	ORPHA:169186
HP:0003323	Progressive muscle weakness	6261	RYR1	ORPHA:169186
HP:0003323	Progressive muscle weakness	7273	TTN	ORPHA:169186
HP:0003323	Progressive muscle weakness	64374	SIL1	OMIM:248800
HP:0003323	Progressive muscle weakness	27235	COQ2	OMIM:607426
HP:0003323	Progressive muscle weakness	203859	ANO5	ORPHA:399096
HP:0003323	Progressive muscle weakness	7167	TPI1	OMIM:615512
HP:0003323	Progressive muscle weakness	9453	GGPS1	OMIM:619518
HP:0003323	Progressive muscle weakness	1674	DES	ORPHA:98909
HP:0003323	Progressive muscle weakness	4358	MPV17	OMIM:256810
HP:0003323	Progressive muscle weakness	5257	PHKB	ORPHA:79240
HP:0003323	Progressive muscle weakness	9570	GOSR2	OMIM:620166
HP:0003323	Progressive muscle weakness	22845	DOLK	ORPHA:91131
HP:0003323	Progressive muscle weakness	7138	TNNT1	ORPHA:98902
HP:0003323	Progressive muscle weakness	7138	TNNT1	OMIM:605355
HP:0003323	Progressive muscle weakness	5111	PCNA	OMIM:615919
HP:0003323	Progressive muscle weakness	56652	TWNK	OMIM:609286
HP:0003323	Progressive muscle weakness	4625	MYH7	ORPHA:59135
HP:0003323	Progressive muscle weakness	9217	VAPB	OMIM:608627
HP:0003323	Progressive muscle weakness	80324	PUS1	OMIM:600462
HP:0003323	Progressive muscle weakness	5428	POLG	OMIM:157640
HP:0003323	Progressive muscle weakness	57190	SELENON	ORPHA:2020
HP:0003323	Progressive muscle weakness	58	ACTA1	ORPHA:2020
HP:0003323	Progressive muscle weakness	58	ACTA1	OMIM:616852
HP:0003323	Progressive muscle weakness	4633	MYL2	ORPHA:2020
HP:0003323	Progressive muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003323	Progressive muscle weakness	7169	TPM2	ORPHA:2020
HP:0003323	Progressive muscle weakness	9200	HACD1	ORPHA:2020
HP:0003323	Progressive muscle weakness	7170	TPM3	ORPHA:2020
HP:0003323	Progressive muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003323	Progressive muscle weakness	5631	PRPS1	OMIM:301835
HP:0003323	Progressive muscle weakness	5256	PHKA2	ORPHA:264580
HP:0003323	Progressive muscle weakness	5261	PHKG2	ORPHA:264580
HP:0003323	Progressive muscle weakness	125170	MIEF2	OMIM:619024
HP:0003323	Progressive muscle weakness	11232	POLG2	OMIM:610131
HP:0003323	Progressive muscle weakness	93627	TBCK	ORPHA:488632
HP:0003323	Progressive muscle weakness	2218	FKTN	OMIM:611588
HP:0003323	Progressive muscle weakness	1756	DMD	ORPHA:98896
HP:0003323	Progressive muscle weakness	8425	LTBP4	ORPHA:98896
HP:0003323	Progressive muscle weakness	11155	LDB3	OMIM:609452
HP:0003323	Progressive muscle weakness	5339	PLEC	ORPHA:254361
HP:0003323	Progressive muscle weakness	4568	MT-TL2	ORPHA:663
HP:0003323	Progressive muscle weakness	4567	MT-TL1	ORPHA:663
HP:0003323	Progressive muscle weakness	4570	MT-TN	ORPHA:663
HP:0003323	Progressive muscle weakness	4574	MT-TS1	ORPHA:663
HP:0003323	Progressive muscle weakness	7084	TK2	ORPHA:254875
HP:0003323	Progressive muscle weakness	60684	TRAPPC11	ORPHA:369847
HP:0003323	Progressive muscle weakness	8291	DYSF	ORPHA:178400
HP:0003323	Progressive muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003323	Progressive muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003323	Progressive muscle weakness	1410	CRYAB	ORPHA:399058
HP:0003323	Progressive muscle weakness	4703	NEB	ORPHA:399103
HP:0003323	Progressive muscle weakness	7415	VCP	OMIM:167320
HP:0003323	Progressive muscle weakness	90523	MLIP	OMIM:620138
HP:0003323	Progressive muscle weakness	9499	MYOT	ORPHA:98911
HP:0003323	Progressive muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003323	Progressive muscle weakness	5837	PYGM	ORPHA:368
HP:0003323	Progressive muscle weakness	1303	COL12A1	ORPHA:610
HP:0003323	Progressive muscle weakness	1291	COL6A1	ORPHA:610
HP:0003323	Progressive muscle weakness	1292	COL6A2	ORPHA:610
HP:0003323	Progressive muscle weakness	1293	COL6A3	ORPHA:610
HP:0003323	Progressive muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003323	Progressive muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003324	Generalized muscle weakness	9131	AIFM1	ORPHA:238329
HP:0003324	Generalized muscle weakness	1134	CHRNA1	OMIM:601462
HP:0003324	Generalized muscle weakness	1134	CHRNA1	OMIM:608930
HP:0003324	Generalized muscle weakness	3064	HTT	ORPHA:399
HP:0003324	Generalized muscle weakness	6515	SLC2A3	ORPHA:399
HP:0003324	Generalized muscle weakness	595	CCND1	ORPHA:29073
HP:0003324	Generalized muscle weakness	1144	CHRND	OMIM:616321
HP:0003324	Generalized muscle weakness	5393	EXOSC9	OMIM:618065
HP:0003324	Generalized muscle weakness	56203	LMOD3	OMIM:616165
HP:0003324	Generalized muscle weakness	5913	RAPSN	OMIM:616326
HP:0003324	Generalized muscle weakness	4593	MUSK	OMIM:616325
HP:0003324	Generalized muscle weakness	95	ACY1	ORPHA:137754
HP:0003324	Generalized muscle weakness	55624	POMGNT1	OMIM:253280
HP:0003324	Generalized muscle weakness	84334	COA8	ORPHA:436271
HP:0003324	Generalized muscle weakness	3032	HADHB	ORPHA:746
HP:0003324	Generalized muscle weakness	3030	HADHA	ORPHA:746
HP:0003324	Generalized muscle weakness	3030	HADHA	OMIM:609015
HP:0003324	Generalized muscle weakness	4703	NEB	OMIM:256030
HP:0003324	Generalized muscle weakness	4703	NEB	ORPHA:171433
HP:0003324	Generalized muscle weakness	4221	MEN1	ORPHA:97279
HP:0003324	Generalized muscle weakness	7528	YY1	ORPHA:97279
HP:0003324	Generalized muscle weakness	4534	MTM1	OMIM:310400
HP:0003324	Generalized muscle weakness	58	ACTA1	OMIM:161800
HP:0003324	Generalized muscle weakness	58	ACTA1	ORPHA:171433
HP:0003324	Generalized muscle weakness	58	ACTA1	ORPHA:2020
HP:0003324	Generalized muscle weakness	1188	CLCNKB	OMIM:607364
HP:0003324	Generalized muscle weakness	1303	COL12A1	ORPHA:75840
HP:0003324	Generalized muscle weakness	1303	COL12A1	ORPHA:536516
HP:0003324	Generalized muscle weakness	1291	COL6A1	ORPHA:75840
HP:0003324	Generalized muscle weakness	1292	COL6A2	ORPHA:75840
HP:0003324	Generalized muscle weakness	1293	COL6A3	ORPHA:75840
HP:0003324	Generalized muscle weakness	111	ADCY5	OMIM:606703
HP:0003324	Generalized muscle weakness	5339	PLEC	ORPHA:254361
HP:0003324	Generalized muscle weakness	5339	PLEC	OMIM:613723
HP:0003324	Generalized muscle weakness	825	CAPN3	ORPHA:267
HP:0003324	Generalized muscle weakness	23556	PIGN	ORPHA:280633
HP:0003324	Generalized muscle weakness	6261	RYR1	ORPHA:178145
HP:0003324	Generalized muscle weakness	6261	RYR1	OMIM:117000
HP:0003324	Generalized muscle weakness	6261	RYR1	OMIM:255320
HP:0003324	Generalized muscle weakness	10324	KLHL41	ORPHA:171433
HP:0003324	Generalized muscle weakness	7170	TPM3	ORPHA:171433
HP:0003324	Generalized muscle weakness	7170	TPM3	OMIM:609284
HP:0003324	Generalized muscle weakness	7170	TPM3	ORPHA:2020
HP:0003324	Generalized muscle weakness	7170	TPM3	OMIM:255310
HP:0003324	Generalized muscle weakness	2548	GAA	ORPHA:308552
HP:0003324	Generalized muscle weakness	5428	POLG	OMIM:613662
HP:0003324	Generalized muscle weakness	5428	POLG	OMIM:607459
HP:0003324	Generalized muscle weakness	84876	ORAI1	OMIM:615883
HP:0003324	Generalized muscle weakness	22880	MORC2	ORPHA:466768
HP:0003324	Generalized muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003324	Generalized muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003324	Generalized muscle weakness	1305	COL13A1	ORPHA:98914
HP:0003324	Generalized muscle weakness	1103	CHAT	ORPHA:98914
HP:0003324	Generalized muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003324	Generalized muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003324	Generalized muscle weakness	375790	AGRN	ORPHA:98914
HP:0003324	Generalized muscle weakness	127833	SYT2	ORPHA:98914
HP:0003324	Generalized muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003324	Generalized muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003324	Generalized muscle weakness	8292	COLQ	ORPHA:98915
HP:0003324	Generalized muscle weakness	8292	COLQ	OMIM:603034
HP:0003324	Generalized muscle weakness	3913	LAMB2	ORPHA:98915
HP:0003324	Generalized muscle weakness	11155	LDB3	ORPHA:98912
HP:0003324	Generalized muscle weakness	57190	SELENON	OMIM:602771
HP:0003324	Generalized muscle weakness	57190	SELENON	ORPHA:2020
HP:0003324	Generalized muscle weakness	486	FXYD2	OMIM:154020
HP:0003324	Generalized muscle weakness	79147	FKRP	OMIM:606612
HP:0003324	Generalized muscle weakness	79147	FKRP	ORPHA:370980
HP:0003324	Generalized muscle weakness	7084	TK2	ORPHA:254875
HP:0003324	Generalized muscle weakness	2218	FKTN	OMIM:613152
HP:0003324	Generalized muscle weakness	2218	FKTN	ORPHA:370980
HP:0003324	Generalized muscle weakness	200205	IBA57	OMIM:615330
HP:0003324	Generalized muscle weakness	29954	POMT2	OMIM:613156
HP:0003324	Generalized muscle weakness	6389	SDHA	ORPHA:3208
HP:0003324	Generalized muscle weakness	6390	SDHB	ORPHA:3208
HP:0003324	Generalized muscle weakness	6392	SDHD	ORPHA:3208
HP:0003324	Generalized muscle weakness	644096	SDHAF1	ORPHA:3208
HP:0003324	Generalized muscle weakness	291	SLC25A4	OMIM:609283
HP:0003324	Generalized muscle weakness	267010	RNU12	OMIM:620208
HP:0003324	Generalized muscle weakness	7317	UBA1	ORPHA:1145
HP:0003324	Generalized muscle weakness	7415	VCP	ORPHA:329475
HP:0003324	Generalized muscle weakness	7415	VCP	ORPHA:803
HP:0003324	Generalized muscle weakness	4625	MYH7	OMIM:608358
HP:0003324	Generalized muscle weakness	29940	DSE	OMIM:615539
HP:0003324	Generalized muscle weakness	25978	CHMP2B	ORPHA:803
HP:0003324	Generalized muscle weakness	3178	HNRNPA1	ORPHA:803
HP:0003324	Generalized muscle weakness	8148	TAF15	ORPHA:803
HP:0003324	Generalized muscle weakness	5445	PON2	ORPHA:803
HP:0003324	Generalized muscle weakness	9217	VAPB	ORPHA:803
HP:0003324	Generalized muscle weakness	8878	SQSTM1	ORPHA:803
HP:0003324	Generalized muscle weakness	5630	PRPH	ORPHA:803
HP:0003324	Generalized muscle weakness	29110	TBK1	ORPHA:803
HP:0003324	Generalized muscle weakness	55830	GLT8D1	ORPHA:803
HP:0003324	Generalized muscle weakness	755	CFAP410	ORPHA:803
HP:0003324	Generalized muscle weakness	10891	PPARGC1A	ORPHA:803
HP:0003324	Generalized muscle weakness	6647	SOD1	ORPHA:803
HP:0003324	Generalized muscle weakness	10133	OPTN	ORPHA:803
HP:0003324	Generalized muscle weakness	1639	DCTN1	ORPHA:803
HP:0003324	Generalized muscle weakness	9896	FIG4	ORPHA:803
HP:0003324	Generalized muscle weakness	5444	PON1	ORPHA:803
HP:0003324	Generalized muscle weakness	5446	PON3	ORPHA:803
HP:0003324	Generalized muscle weakness	4744	NEFH	ORPHA:803
HP:0003324	Generalized muscle weakness	5216	PFN1	ORPHA:803
HP:0003324	Generalized muscle weakness	9782	MATR3	ORPHA:803
HP:0003324	Generalized muscle weakness	54209	TREM2	ORPHA:803
HP:0003324	Generalized muscle weakness	283	ANG	ORPHA:803
HP:0003324	Generalized muscle weakness	23435	TARDBP	ORPHA:803
HP:0003324	Generalized muscle weakness	29978	UBQLN2	ORPHA:803
HP:0003324	Generalized muscle weakness	2733	GLE1	ORPHA:803
HP:0003324	Generalized muscle weakness	2521	FUS	ORPHA:803
HP:0003324	Generalized muscle weakness	4750	NEK1	ORPHA:803
HP:0003324	Generalized muscle weakness	2043	EPHA4	ORPHA:803
HP:0003324	Generalized muscle weakness	6311	ATXN2	ORPHA:803
HP:0003324	Generalized muscle weakness	1610	DAO	ORPHA:803
HP:0003324	Generalized muscle weakness	2066	ERBB4	ORPHA:803
HP:0003324	Generalized muscle weakness	311	ANXA11	ORPHA:803
HP:0003324	Generalized muscle weakness	23025	UNC13A	ORPHA:803
HP:0003324	Generalized muscle weakness	899	CCNF	ORPHA:803
HP:0003324	Generalized muscle weakness	400916	CHCHD10	ORPHA:803
HP:0003324	Generalized muscle weakness	5351	PLOD1	ORPHA:1900
HP:0003324	Generalized muscle weakness	55750	AGK	OMIM:212350
HP:0003324	Generalized muscle weakness	10049	DNAJB6	ORPHA:34516
HP:0003324	Generalized muscle weakness	4620	MYH2	OMIM:605637
HP:0003324	Generalized muscle weakness	6567	SLC16A2	ORPHA:59
HP:0003324	Generalized muscle weakness	6557	SLC12A1	OMIM:601678
HP:0003324	Generalized muscle weakness	5903	RANBP2	ORPHA:88619
HP:0003324	Generalized muscle weakness	56652	TWNK	OMIM:607459
HP:0003324	Generalized muscle weakness	4633	MYL2	ORPHA:2020
HP:0003324	Generalized muscle weakness	4633	MYL2	OMIM:619424
HP:0003324	Generalized muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003324	Generalized muscle weakness	7169	TPM2	ORPHA:2020
HP:0003324	Generalized muscle weakness	9200	HACD1	ORPHA:2020
HP:0003324	Generalized muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003324	Generalized muscle weakness	57505	AARS2	OMIM:614096
HP:0003324	Generalized muscle weakness	3758	KCNJ1	OMIM:241200
HP:0003324	Generalized muscle weakness	23400	ATP13A2	ORPHA:306674
HP:0003324	Generalized muscle weakness	10058	ABCB6	OMIM:609153
HP:0003324	Generalized muscle weakness	8398	PLA2G6	OMIM:256600
HP:0003324	Generalized muscle weakness	6559	SLC12A3	OMIM:263800
HP:0003324	Generalized muscle weakness	4632	MYL1	OMIM:618414
HP:0003324	Generalized muscle weakness	284119	CAVIN1	OMIM:613327
HP:0003324	Generalized muscle weakness	8074	FGF23	OMIM:193100
HP:0003324	Generalized muscle weakness	729920	CRPPA	ORPHA:370980
HP:0003324	Generalized muscle weakness	10585	POMT1	ORPHA:370980
HP:0003324	Generalized muscle weakness	9531	BAG3	OMIM:612954
HP:0003324	Generalized muscle weakness	28976	ACAD9	ORPHA:99901
HP:0003324	Generalized muscle weakness	1756	DMD	ORPHA:206546
HP:0003324	Generalized muscle weakness	113278	SLC52A3	OMIM:211530
HP:0003324	Generalized muscle weakness	7273	TTN	OMIM:611705
HP:0003324	Generalized muscle weakness	112476	PRRT2	ORPHA:98810
HP:0003324	Generalized muscle weakness	25953	PNKD	ORPHA:98810
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	OMIM:615352
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	29954	POMT2	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	9215	LARGE1	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	OMIM:609308
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	ORPHA:86812
HP:0003325	Limb-girdle muscle weakness	85365	ALG2	OMIM:616228
HP:0003325	Limb-girdle muscle weakness	85365	ALG2	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	1605	DAG1	OMIM:613818
HP:0003325	Limb-girdle muscle weakness	6442	SGCA	OMIM:608099
HP:0003325	Limb-girdle muscle weakness	4000	LMNA	OMIM:181350
HP:0003325	Limb-girdle muscle weakness	112812	FDX2	OMIM:251900
HP:0003325	Limb-girdle muscle weakness	84197	POMK	OMIM:616094
HP:0003325	Limb-girdle muscle weakness	4703	NEB	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	10324	KLHL41	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	56203	LMOD3	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	4507	MTAP	OMIM:112250
HP:0003325	Limb-girdle muscle weakness	1291	COL6A1	OMIM:158810
HP:0003325	Limb-girdle muscle weakness	1291	COL6A1	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	1292	COL6A2	OMIM:158810
HP:0003325	Limb-girdle muscle weakness	1292	COL6A2	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	1293	COL6A3	OMIM:158810
HP:0003325	Limb-girdle muscle weakness	1293	COL6A3	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	22880	MORC2	ORPHA:466768
HP:0003325	Limb-girdle muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	1103	CHAT	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	127833	SYT2	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	11149	BVES	OMIM:616812
HP:0003325	Limb-girdle muscle weakness	11155	LDB3	ORPHA:98912
HP:0003325	Limb-girdle muscle weakness	729920	CRPPA	ORPHA:352479
HP:0003325	Limb-girdle muscle weakness	1303	COL12A1	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	4976	OPA1	ORPHA:1215
HP:0003325	Limb-girdle muscle weakness	2673	GFPT1	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	199857	ALG14	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	5428	POLG	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	56652	TWNK	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	11232	POLG2	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	23299	BICD2	ORPHA:363454
HP:0003325	Limb-girdle muscle weakness	2483	FRG1	OMIM:158900
HP:0003325	Limb-girdle muscle weakness	55791	LRIF1	OMIM:619477
HP:0003325	Limb-girdle muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003325	Limb-girdle muscle weakness	9782	MATR3	OMIM:606070
HP:0003325	Limb-girdle muscle weakness	9782	MATR3	ORPHA:600
HP:0003325	Limb-girdle muscle weakness	1073	CFL2	OMIM:610687
HP:0003325	Limb-girdle muscle weakness	2581	GALC	ORPHA:206436
HP:0003325	Limb-girdle muscle weakness	5660	PSAP	ORPHA:206436
HP:0003325	Limb-girdle muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003325	Limb-girdle muscle weakness	6261	RYR1	ORPHA:597
HP:0003325	Limb-girdle muscle weakness	7273	TTN	OMIM:603689
HP:0003325	Limb-girdle muscle weakness	1410	CRYAB	OMIM:608810
HP:0003325	Limb-girdle muscle weakness	23347	SMCHD1	OMIM:158901
HP:0003325	Limb-girdle muscle weakness	1763	DNA2	OMIM:615156
HP:0003325	Limb-girdle muscle weakness	5255	PHKA1	OMIM:300559
HP:0003325	Limb-girdle muscle weakness	22954	TRIM32	OMIM:254110
HP:0003325	Limb-girdle muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003325	Limb-girdle muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003325	Limb-girdle muscle weakness	5257	PHKB	ORPHA:79240
HP:0003325	Limb-girdle muscle weakness	7415	VCP	OMIM:167320
HP:0003325	Limb-girdle muscle weakness	4625	MYH7	OMIM:608358
HP:0003325	Limb-girdle muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003325	Limb-girdle muscle weakness	6606	SMN1	OMIM:253400
HP:0003325	Limb-girdle muscle weakness	6607	SMN2	OMIM:253400
HP:0003325	Limb-girdle muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003325	Limb-girdle muscle weakness	9499	MYOT	ORPHA:266
HP:0003325	Limb-girdle muscle weakness	5339	PLEC	ORPHA:254361
HP:0003325	Limb-girdle muscle weakness	79147	FKRP	ORPHA:34515
HP:0003325	Limb-girdle muscle weakness	79147	FKRP	OMIM:607155
HP:0003325	Limb-girdle muscle weakness	57190	SELENON	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	58	ACTA1	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	4633	MYL2	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	7169	TPM2	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	9200	HACD1	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	7170	TPM3	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	54344	DPM3	ORPHA:263494
HP:0003325	Limb-girdle muscle weakness	2992	GYG1	OMIM:616199
HP:0003325	Limb-girdle muscle weakness	8291	DYSF	ORPHA:45448
HP:0003325	Limb-girdle muscle weakness	23534	TNPO3	OMIM:608423
HP:0003325	Limb-girdle muscle weakness	6443	SGCB	ORPHA:119
HP:0003325	Limb-girdle muscle weakness	203859	ANO5	OMIM:611307
HP:0003325	Limb-girdle muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0003325	Limb-girdle muscle weakness	2318	FLNC	ORPHA:63273
HP:0003325	Limb-girdle muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	4038	LRP4	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1144	CHRND	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	4593	MUSK	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	375790	AGRN	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	221264	AK9	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	285489	DOK7	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	10020	GNE	ORPHA:602
HP:0003326	Myalgia	6335	SCN9A	OMIM:133020
HP:0003326	Myalgia	26191	PTPN22	ORPHA:397
HP:0003326	Myalgia	26191	PTPN22	ORPHA:85408
HP:0003326	Myalgia	26191	PTPN22	ORPHA:900
HP:0003326	Myalgia	3106	HLA-B	ORPHA:397
HP:0003326	Myalgia	3106	HLA-B	ORPHA:117
HP:0003326	Myalgia	3106	HLA-B	ORPHA:3287
HP:0003326	Myalgia	3123	HLA-DRB1	ORPHA:397
HP:0003326	Myalgia	8974	P4HA2	ORPHA:397
HP:0003326	Myalgia	90268	OTULIN	OMIM:617099
HP:0003326	Myalgia	7148	TNXB	ORPHA:230839
HP:0003326	Myalgia	4598	MVK	OMIM:260920
HP:0003326	Myalgia	4598	MVK	ORPHA:343
HP:0003326	Myalgia	60684	TRAPPC11	OMIM:615356
HP:0003326	Myalgia	60684	TRAPPC11	ORPHA:369840
HP:0003326	Myalgia	60684	TRAPPC11	ORPHA:369847
HP:0003326	Myalgia	171023	ASXL1	ORPHA:98849
HP:0003326	Myalgia	54790	TET2	ORPHA:98849
HP:0003326	Myalgia	3815	KIT	ORPHA:98849
HP:0003326	Myalgia	6427	SRSF2	ORPHA:98849
HP:0003326	Myalgia	2038	EPB42	ORPHA:822
HP:0003326	Myalgia	6521	SLC4A1	ORPHA:822
HP:0003326	Myalgia	6710	SPTB	ORPHA:822
HP:0003326	Myalgia	6708	SPTA1	ORPHA:822
HP:0003326	Myalgia	286	ANK1	ORPHA:822
HP:0003326	Myalgia	4625	MYH7	ORPHA:59135
HP:0003326	Myalgia	4625	MYH7	OMIM:160500
HP:0003326	Myalgia	6840	SVIL	OMIM:619040
HP:0003326	Myalgia	6775	STAT4	ORPHA:85408
HP:0003326	Myalgia	6775	STAT4	ORPHA:117
HP:0003326	Myalgia	3560	IL2RB	ORPHA:85408
HP:0003326	Myalgia	79722	ANKRD55	ORPHA:85408
HP:0003326	Myalgia	919	CD247	ORPHA:85408
HP:0003326	Myalgia	3559	IL2RA	ORPHA:85408
HP:0003326	Myalgia	5771	PTPN2	ORPHA:85408
HP:0003326	Myalgia	4210	MEFV	OMIM:249100
HP:0003326	Myalgia	4210	MEFV	ORPHA:3243
HP:0003326	Myalgia	4210	MEFV	ORPHA:342
HP:0003326	Myalgia	4210	MEFV	ORPHA:117
HP:0003326	Myalgia	4210	MEFV	OMIM:608068
HP:0003326	Myalgia	1763	DNA2	ORPHA:352470
HP:0003326	Myalgia	1763	DNA2	OMIM:615156
HP:0003326	Myalgia	729920	CRPPA	ORPHA:352479
HP:0003326	Myalgia	729920	CRPPA	ORPHA:370980
HP:0003326	Myalgia	79147	FKRP	OMIM:607155
HP:0003326	Myalgia	79147	FKRP	OMIM:606612
HP:0003326	Myalgia	79147	FKRP	ORPHA:370980
HP:0003326	Myalgia	55034	MOCOS	OMIM:603592
HP:0003326	Myalgia	1340	COX6B1	OMIM:619051
HP:0003326	Myalgia	55154	MSTO1	OMIM:617675
HP:0003326	Myalgia	55154	MSTO1	ORPHA:502423
HP:0003326	Myalgia	114548	NLRP3	ORPHA:47045
HP:0003326	Myalgia	114548	NLRP3	OMIM:191900
HP:0003326	Myalgia	114548	NLRP3	ORPHA:575
HP:0003326	Myalgia	114548	NLRP3	ORPHA:1451
HP:0003326	Myalgia	114548	NLRP3	OMIM:120100
HP:0003326	Myalgia	9692	PRORP	OMIM:619737
HP:0003326	Myalgia	1716	DGUOK	ORPHA:329314
HP:0003326	Myalgia	5468	PPARG	ORPHA:79083
HP:0003326	Myalgia	7132	TNFRSF1A	OMIM:142680
HP:0003326	Myalgia	7132	TNFRSF1A	ORPHA:32960
HP:0003326	Myalgia	9499	MYOT	OMIM:609200
HP:0003326	Myalgia	2332	FMR1	ORPHA:93256
HP:0003326	Myalgia	2332	FMR1	OMIM:300623
HP:0003326	Myalgia	11107	PRDM5	OMIM:614170
HP:0003326	Myalgia	11107	PRDM5	ORPHA:90354
HP:0003326	Myalgia	64127	NOD2	OMIM:617321
HP:0003326	Myalgia	844	CASQ1	OMIM:616231
HP:0003326	Myalgia	844	CASQ1	ORPHA:2593
HP:0003326	Myalgia	11232	POLG2	OMIM:610131
HP:0003326	Myalgia	11232	POLG2	ORPHA:254892
HP:0003326	Myalgia	28976	ACAD9	ORPHA:99901
HP:0003326	Myalgia	54	ACP5	ORPHA:1855
HP:0003326	Myalgia	7840	ALMS1	ORPHA:64
HP:0003326	Myalgia	6329	SCN4A	ORPHA:99735
HP:0003326	Myalgia	6329	SCN4A	ORPHA:99736
HP:0003326	Myalgia	6329	SCN4A	ORPHA:99734
HP:0003326	Myalgia	6329	SCN4A	OMIM:168300
HP:0003326	Myalgia	6329	SCN4A	ORPHA:684
HP:0003326	Myalgia	6329	SCN4A	ORPHA:682
HP:0003326	Myalgia	6329	SCN4A	OMIM:608390
HP:0003326	Myalgia	1493	CTLA4	ORPHA:900
HP:0003326	Myalgia	3115	HLA-DPB1	ORPHA:900
HP:0003326	Myalgia	5657	PRTN3	ORPHA:900
HP:0003326	Myalgia	3113	HLA-DPA1	ORPHA:900
HP:0003326	Myalgia	8659	ALDH4A1	ORPHA:79101
HP:0003326	Myalgia	1180	CLCN1	OMIM:255700
HP:0003326	Myalgia	1180	CLCN1	OMIM:160800
HP:0003326	Myalgia	4567	MT-TL1	ORPHA:225
HP:0003326	Myalgia	4556	MT-TE	ORPHA:225
HP:0003326	Myalgia	4556	MT-TE	ORPHA:2596
HP:0003326	Myalgia	4566	MT-TK	ORPHA:225
HP:0003326	Myalgia	4566	MT-TK	ORPHA:1349
HP:0003326	Myalgia	11149	BVES	OMIM:616812
HP:0003326	Myalgia	3662	IRF4	ORPHA:3452
HP:0003326	Myalgia	11128	POLR3A	ORPHA:3455
HP:0003326	Myalgia	84627	ZNF469	ORPHA:90354
HP:0003326	Myalgia	57104	PNPLA2	OMIM:610717
HP:0003326	Myalgia	57104	PNPLA2	ORPHA:98908
HP:0003326	Myalgia	487	ATP2A1	OMIM:601003
HP:0003326	Myalgia	339855	KY	OMIM:617114
HP:0003326	Myalgia	7415	VCP	ORPHA:329478
HP:0003326	Myalgia	84876	ORAI1	ORPHA:2593
HP:0003326	Myalgia	3514	IGKC	ORPHA:183675
HP:0003326	Myalgia	3501	IGHG2	ORPHA:183675
HP:0003326	Myalgia	3339	HSPG2	ORPHA:800
HP:0003326	Myalgia	226	ALDOA	ORPHA:57
HP:0003326	Myalgia	5256	PHKA2	ORPHA:264580
HP:0003326	Myalgia	5261	PHKG2	ORPHA:264580
HP:0003326	Myalgia	79628	SH3TC2	ORPHA:99949
HP:0003326	Myalgia	284119	CAVIN1	OMIM:613327
HP:0003326	Myalgia	4001	LMNB1	ORPHA:99027
HP:0003326	Myalgia	1188	CLCNKB	ORPHA:358
HP:0003326	Myalgia	6559	SLC12A3	ORPHA:358
HP:0003326	Myalgia	149233	IL23R	ORPHA:117
HP:0003326	Myalgia	3586	IL10	ORPHA:117
HP:0003326	Myalgia	1230	CCR1	ORPHA:117
HP:0003326	Myalgia	355	FAS	ORPHA:117
HP:0003326	Myalgia	3592	IL12A	ORPHA:117
HP:0003326	Myalgia	101928376	IL12A-AS1	ORPHA:117
HP:0003326	Myalgia	7099	TLR4	ORPHA:117
HP:0003326	Myalgia	3459	IFNGR1	ORPHA:117
HP:0003326	Myalgia	720	C4A	ORPHA:117
HP:0003326	Myalgia	337867	UBAC2	ORPHA:117
HP:0003326	Myalgia	51752	ERAP1	ORPHA:117
HP:0003326	Myalgia	8302	KLRC4	ORPHA:117
HP:0003326	Myalgia	291	SLC25A4	ORPHA:254892
HP:0003326	Myalgia	291	SLC25A4	OMIM:615418
HP:0003326	Myalgia	5428	POLG	ORPHA:254892
HP:0003326	Myalgia	56652	TWNK	ORPHA:254892
HP:0003326	Myalgia	56652	TWNK	OMIM:609286
HP:0003326	Myalgia	5888	RAD51	ORPHA:238722
HP:0003326	Myalgia	10126	DNAL4	ORPHA:238722
HP:0003326	Myalgia	9423	NTN1	ORPHA:238722
HP:0003326	Myalgia	1630	DCC	ORPHA:238722
HP:0003326	Myalgia	5156	PDGFRA	OMIM:607685
HP:0003326	Myalgia	1776	DNASE1L3	ORPHA:36412
HP:0003326	Myalgia	10049	DNAJB6	OMIM:603511
HP:0003326	Myalgia	7555	CNBP	OMIM:602668
HP:0003326	Myalgia	58484	NLRC4	OMIM:616050
HP:0003326	Myalgia	3930	LBR	ORPHA:779
HP:0003326	Myalgia	2027	ENO3	OMIM:612932
HP:0003326	Myalgia	10059	DNM1L	ORPHA:98673
HP:0003326	Myalgia	4976	OPA1	ORPHA:98673
HP:0003326	Myalgia	9663	LPIN2	ORPHA:77297
HP:0003326	Myalgia	7084	TK2	ORPHA:254875
HP:0003326	Myalgia	51116	MRPS2	OMIM:617950
HP:0003326	Myalgia	10616	RBCK1	OMIM:615895
HP:0003326	Myalgia	64856	VWA1	OMIM:619216
HP:0003326	Myalgia	825	CAPN3	OMIM:618129
HP:0003326	Myalgia	5257	PHKB	ORPHA:79240
HP:0003326	Myalgia	29940	DSE	OMIM:615539
HP:0003326	Myalgia	1312	COMT	ORPHA:567
HP:0003326	Myalgia	221037	JMJD1C	ORPHA:567
HP:0003326	Myalgia	2812	GP1BB	ORPHA:567
HP:0003326	Myalgia	6239	RREB1	ORPHA:567
HP:0003326	Myalgia	6899	TBX1	ORPHA:567
HP:0003326	Myalgia	7290	HIRA	ORPHA:567
HP:0003326	Myalgia	9632	SEC24C	ORPHA:567
HP:0003326	Myalgia	7353	UFD1	ORPHA:567
HP:0003326	Myalgia	421	ARVCF	ORPHA:567
HP:0003326	Myalgia	2717	GLA	ORPHA:324
HP:0003326	Myalgia	2131	EXT1	ORPHA:321
HP:0003326	Myalgia	2132	EXT2	ORPHA:321
HP:0003326	Myalgia	4547	MTTP	ORPHA:14
HP:0003326	Myalgia	112812	FDX2	OMIM:251900
HP:0003326	Myalgia	1380	CR2	OMIM:614699
HP:0003326	Myalgia	2218	FKTN	ORPHA:370980
HP:0003326	Myalgia	10585	POMT1	ORPHA:370980
HP:0003326	Myalgia	1756	DMD	ORPHA:98895
HP:0003326	Myalgia	1756	DMD	OMIM:300376
HP:0003326	Myalgia	1756	DMD	ORPHA:206546
HP:0003326	Myalgia	1499	CTNNB1	ORPHA:873
HP:0003326	Myalgia	324	APC	ORPHA:873
HP:0003326	Myalgia	3032	HADHB	ORPHA:746
HP:0003326	Myalgia	3030	HADHA	ORPHA:746
HP:0003326	Myalgia	3030	HADHA	OMIM:609015
HP:0003326	Myalgia	51816	ADA2	OMIM:615688
HP:0003326	Myalgia	91662	NLRP12	OMIM:611762
HP:0003326	Myalgia	6389	SDHA	OMIM:619259
HP:0003326	Myalgia	4194	MDM4	OMIM:618849
HP:0003326	Myalgia	3593	IL12B	ORPHA:3287
HP:0003326	Myalgia	6945	MLX	ORPHA:3287
HP:0003326	Myalgia	23592	LEMD3	ORPHA:1306
HP:0003326	Myalgia	124093	CCDC78	OMIM:614807
HP:0003326	Myalgia	84842	HPDL	OMIM:619027
HP:0003326	Myalgia	125170	MIEF2	OMIM:619024
HP:0003326	Myalgia	270	AMPD1	ORPHA:45
HP:0003326	Myalgia	270	AMPD1	OMIM:615511
HP:0003326	Myalgia	272	AMPD3	ORPHA:45
HP:0003326	Myalgia	34	ACADM	ORPHA:42
HP:0003326	Myalgia	3939	LDHA	ORPHA:284426
HP:0003326	Myalgia	37	ACADVL	OMIM:201475
HP:0003326	Myalgia	5255	PHKA1	OMIM:300559
HP:0003326	Myalgia	6261	RYR1	OMIM:255320
HP:0003326	Myalgia	6261	RYR1	ORPHA:169189
HP:0003326	Myalgia	6261	RYR1	OMIM:619542
HP:0003326	Myalgia	22954	TRIM32	OMIM:254110
HP:0003326	Myalgia	50484	RRM2B	ORPHA:329336
HP:0003326	Myalgia	246243	RNASEH1	ORPHA:329336
HP:0003326	Myalgia	2318	FLNC	ORPHA:63273
HP:0003326	Myalgia	859	CAV3	OMIM:606072
HP:0003326	Myalgia	5213	PFKM	OMIM:232800
HP:0003326	Myalgia	5837	PYGM	OMIM:232600
HP:0003326	Myalgia	5837	PYGM	ORPHA:368
HP:0003326	Myalgia	1376	CPT2	ORPHA:228302
HP:0003326	Myalgia	1376	CPT2	ORPHA:228305
HP:0003326	Myalgia	9782	MATR3	ORPHA:600
HP:0003326	Myalgia	274	BIN1	ORPHA:169189
HP:0003326	Myalgia	64419	MTMR14	ORPHA:169189
HP:0003326	Myalgia	4618	MYF6	ORPHA:169189
HP:0003326	Myalgia	1785	DNM2	ORPHA:169189
HP:0003326	Myalgia	55863	TMEM126B	OMIM:618250
HP:0003326	Myalgia	5224	PGAM2	OMIM:261670
HP:0003326	Myalgia	8291	DYSF	ORPHA:178400
HP:0003326	Myalgia	8291	DYSF	ORPHA:45448
HP:0003326	Myalgia	3178	HNRNPA1	OMIM:615424
HP:0003326	Myalgia	90523	MLIP	OMIM:620138
HP:0003326	Myalgia	284439	SLC25A42	OMIM:618416
HP:0003326	Myalgia	23175	LPIN1	ORPHA:99845
HP:0003326	Myalgia	4512	MT-CO1	ORPHA:99845
HP:0003326	Myalgia	4514	MT-CO3	ORPHA:99845
HP:0003326	Myalgia	5230	PGK1	ORPHA:713
HP:0003326	Myalgia	4000	LMNA	ORPHA:79474
HP:0003326	Myalgia	6786	STIM1	OMIM:160565
HP:0003326	Myalgia	203859	ANO5	ORPHA:206549
HP:0003326	Myalgia	400916	CHCHD10	ORPHA:276435
HP:0003327	Axial muscle weakness	58	ACTA1	ORPHA:97240
HP:0003327	Axial muscle weakness	58	ACTA1	ORPHA:171436
HP:0003327	Axial muscle weakness	58	ACTA1	ORPHA:171430
HP:0003327	Axial muscle weakness	29925	GMPPB	ORPHA:370968
HP:0003327	Axial muscle weakness	29925	GMPPB	ORPHA:363623
HP:0003327	Axial muscle weakness	79147	FKRP	ORPHA:370968
HP:0003327	Axial muscle weakness	29954	POMT2	ORPHA:370968
HP:0003327	Axial muscle weakness	9215	LARGE1	ORPHA:370968
HP:0003327	Axial muscle weakness	10585	POMT1	ORPHA:370968
HP:0003327	Axial muscle weakness	57190	SELENON	OMIM:602771
HP:0003327	Axial muscle weakness	57190	SELENON	ORPHA:324604
HP:0003327	Axial muscle weakness	4625	MYH7	ORPHA:324604
HP:0003327	Axial muscle weakness	7273	TTN	ORPHA:324604
HP:0003327	Axial muscle weakness	23299	BICD2	OMIM:615290
HP:0003327	Axial muscle weakness	4000	LMNA	ORPHA:157973
HP:0003327	Axial muscle weakness	146862	UNC45B	OMIM:619178
HP:0003327	Axial muscle weakness	274	BIN1	OMIM:255200
HP:0003327	Axial muscle weakness	6261	RYR1	OMIM:255320
HP:0003327	Axial muscle weakness	6261	RYR1	ORPHA:98905
HP:0003327	Axial muscle weakness	6261	RYR1	ORPHA:178145
HP:0003327	Axial muscle weakness	1305	COL13A1	OMIM:616720
HP:0003327	Axial muscle weakness	1674	DES	ORPHA:98909
HP:0003327	Axial muscle weakness	1410	CRYAB	ORPHA:399058
HP:0003327	Axial muscle weakness	4604	MYBPC1	OMIM:618524
HP:0003327	Axial muscle weakness	10290	SPEG	OMIM:615959
HP:0003327	Axial muscle weakness	779	CACNA1S	OMIM:620246
HP:0003327	Axial muscle weakness	4568	MT-TL2	ORPHA:663
HP:0003327	Axial muscle weakness	4567	MT-TL1	ORPHA:663
HP:0003327	Axial muscle weakness	4570	MT-TN	ORPHA:663
HP:0003327	Axial muscle weakness	4574	MT-TS1	ORPHA:663
HP:0003327	Axial muscle weakness	7169	TPM2	ORPHA:171436
HP:0003327	Axial muscle weakness	4703	NEB	ORPHA:171436
HP:0003327	Axial muscle weakness	4703	NEB	ORPHA:171430
HP:0003327	Axial muscle weakness	10324	KLHL41	ORPHA:171436
HP:0003327	Axial muscle weakness	10324	KLHL41	ORPHA:171430
HP:0003327	Axial muscle weakness	56203	LMOD3	ORPHA:171436
HP:0003327	Axial muscle weakness	56203	LMOD3	ORPHA:171430
HP:0003327	Axial muscle weakness	1073	CFL2	ORPHA:171436
HP:0003327	Axial muscle weakness	9325	TRIP4	OMIM:617066
HP:0003327	Axial muscle weakness	101929726	MYMX	OMIM:619941
HP:0003327	Axial muscle weakness	131377	KLHL40	ORPHA:171430
HP:0003327	Axial muscle weakness	246243	RNASEH1	OMIM:616479
HP:0003327	Axial muscle weakness	8292	COLQ	ORPHA:98915
HP:0003327	Axial muscle weakness	3913	LAMB2	ORPHA:98915
HP:0003327	Axial muscle weakness	4632	MYL1	OMIM:618414
HP:0003327	Axial muscle weakness	9531	BAG3	OMIM:612954
HP:0003327	Axial muscle weakness	1303	COL12A1	ORPHA:610
HP:0003327	Axial muscle weakness	1291	COL6A1	ORPHA:610
HP:0003327	Axial muscle weakness	1292	COL6A2	ORPHA:610
HP:0003327	Axial muscle weakness	1293	COL6A3	ORPHA:610
HP:0003327	Axial muscle weakness	285489	DOK7	OMIM:254300
HP:0003328	Abnormal hairshaft morphology	51702	PADI3	OMIM:191480
HP:0003328	Abnormal hairshaft morphology	8626	TP63	OMIM:129400
HP:0003328	Abnormal hairshaft morphology	7062	TCHH	OMIM:617252
HP:0003328	Abnormal hairshaft morphology	7053	TGM3	OMIM:617251
HP:0003328	Abnormal hairshaft morphology	8139	GAN	ORPHA:643
HP:0003328	Abnormal hairshaft morphology	617	BCS1L	OMIM:262000
HP:0003328	Abnormal hairshaft morphology	6768	ST14	OMIM:602400
HP:0003328	Abnormal hairshaft morphology	1001	CDH3	OMIM:601553
HP:0003328	Abnormal hairshaft morphology	1001	CDH3	ORPHA:1573
HP:0003328	Abnormal hairshaft morphology	147409	DSG4	OMIM:607903
HP:0003328	Abnormal hairshaft morphology	81607	NECTIN4	OMIM:613573
HP:0003328	Abnormal hairshaft morphology	5818	NECTIN1	ORPHA:3253
HP:0003328	Abnormal hairshaft morphology	5189	PEX1	ORPHA:3220
HP:0003328	Abnormal hairshaft morphology	5190	PEX6	ORPHA:3220
HP:0003328	Abnormal hairshaft morphology	538	ATP7A	OMIM:304150
HP:0003328	Abnormal hairshaft morphology	4000	LMNA	ORPHA:79474
HP:0003328	Abnormal hairshaft morphology	7486	WRN	ORPHA:902
HP:0003328	Abnormal hairshaft morphology	3891	KRT85	OMIM:602032
HP:0003328	Abnormal hairshaft morphology	435	ASL	ORPHA:23
HP:0003328	Abnormal hairshaft morphology	435	ASL	OMIM:207900
HP:0003328	Abnormal hairshaft morphology	1185	CLCN6	OMIM:619173
HP:0003328	Abnormal hairshaft morphology	16	AARS1	OMIM:619691
HP:0003328	Abnormal hairshaft morphology	136647	MPLKIP	OMIM:234050
HP:0003328	Abnormal hairshaft morphology	404672	GTF2H5	OMIM:616395
HP:0003328	Abnormal hairshaft morphology	147183	KRT25	OMIM:616760
HP:0003328	Abnormal hairshaft morphology	9652	SKIC3	OMIM:222470
HP:0003328	Abnormal hairshaft morphology	9652	SKIC3	ORPHA:84064
HP:0003328	Abnormal hairshaft morphology	341208	HEPHL1	OMIM:261990
HP:0003328	Abnormal hairshaft morphology	6499	SKIC2	ORPHA:84064
HP:0003328	Abnormal hairshaft morphology	6499	SKIC2	OMIM:614602
HP:0003328	Abnormal hairshaft morphology	126695	KDF1	OMIM:617337
HP:0003328	Abnormal hairshaft morphology	2697	GJA1	ORPHA:1010
HP:0003328	Abnormal hairshaft morphology	11005	SPINK5	ORPHA:634
HP:0003328	Abnormal hairshaft morphology	2068	ERCC2	OMIM:601675
HP:0003328	Abnormal hairshaft morphology	7737	RNF113A	OMIM:300953
HP:0003328	Abnormal hairshaft morphology	2071	ERCC3	OMIM:616390
HP:0003328	Abnormal hairshaft morphology	2071	ERCC3	ORPHA:33364
HP:0003328	Abnormal hairshaft morphology	6897	TARS1	OMIM:618546
HP:0003328	Abnormal hairshaft morphology	6897	TARS1	ORPHA:33364
HP:0003328	Abnormal hairshaft morphology	2961	GTF2E2	OMIM:616943
HP:0003328	Abnormal hairshaft morphology	2961	GTF2E2	ORPHA:33364
HP:0003328	Abnormal hairshaft morphology	833	CARS1	ORPHA:33364
HP:0003328	Abnormal hairshaft morphology	4141	MARS1	OMIM:619692
HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	617	BCS1L	OMIM:262000
HP:0033978	Reduced beta-hexosaminidase activity	3074	HEXB	ORPHA:309162
HP:0033978	Reduced beta-hexosaminidase activity	3074	HEXB	ORPHA:309155
HP:0033978	Reduced beta-hexosaminidase activity	3074	HEXB	ORPHA:309169
HP:0033978	Reduced beta-hexosaminidase activity	3074	HEXB	OMIM:268800
HP:0033977	Talar aplasia	2019	EN1	OMIM:619218
HP:0033980	Paroxysmal tonic upgaze	57167	SALL4	OMIM:147750
HP:0033980	Paroxysmal tonic upgaze	51091	SEPSECS	OMIM:613811
HP:0033981	Vertebral artery tortuosity	1289	COL5A1	OMIM:619329
HP:0033982	Celiac artery dissection	1289	COL5A1	OMIM:619329
HP:0033983	Decreased circulating apolipoprotein C-II concentration	344	APOC2	OMIM:207750
HP:0003330	Abnormal bone structure	6448	SGSH	OMIM:252900
HP:0003330	Abnormal bone structure	138050	HGSNAT	OMIM:252930
HP:0003330	Abnormal bone structure	4669	NAGLU	OMIM:252920
HP:0003330	Abnormal bone structure	203859	ANO5	ORPHA:53697
HP:0003330	Abnormal bone structure	4591	TRIM37	OMIM:253250
HP:0003330	Abnormal bone structure	55503	TRPV6	OMIM:618188
HP:0003330	Abnormal bone structure	8425	LTBP4	OMIM:613177
HP:0003330	Abnormal bone structure	51126	NAA20	OMIM:619717
HP:0003330	Abnormal bone structure	7355	SLC35A2	ORPHA:356961
HP:0003330	Abnormal bone structure	3190	HNRNPK	ORPHA:453504
HP:0003330	Abnormal bone structure	3190	HNRNPK	ORPHA:352665
HP:0003330	Abnormal bone structure	2201	FBN2	OMIM:121050
HP:0003330	Abnormal bone structure	4882	NPR2	OMIM:615923
HP:0003330	Abnormal bone structure	79158	GNPTAB	OMIM:252500
HP:0003330	Abnormal bone structure	9382	COG1	OMIM:611209
HP:0003330	Abnormal bone structure	9382	COG1	ORPHA:263508
HP:0003330	Abnormal bone structure	79631	EFL1	ORPHA:811
HP:0003330	Abnormal bone structure	7125	TNNC2	OMIM:620161
HP:0003330	Abnormal bone structure	6772	STAT1	OMIM:614162
HP:0003330	Abnormal bone structure	6772	STAT1	ORPHA:391487
HP:0003330	Abnormal bone structure	3899	AFF3	OMIM:619297
HP:0003330	Abnormal bone structure	23545	ATP6V0A2	ORPHA:2834
HP:0003330	Abnormal bone structure	23545	ATP6V0A2	OMIM:278250
HP:0003330	Abnormal bone structure	1289	COL5A1	ORPHA:287
HP:0003330	Abnormal bone structure	1290	COL5A2	ORPHA:287
HP:0003330	Abnormal bone structure	8726	EED	OMIM:617561
HP:0003330	Abnormal bone structure	1028	CDKN1C	OMIM:614732
HP:0003330	Abnormal bone structure	8642	DCHS1	OMIM:601390
HP:0003330	Abnormal bone structure	8642	DCHS1	ORPHA:314679
HP:0003330	Abnormal bone structure	4247	MGAT2	OMIM:212066
HP:0003330	Abnormal bone structure	4247	MGAT2	ORPHA:79329
HP:0003330	Abnormal bone structure	1576	CYP3A4	OMIM:619073
HP:0003330	Abnormal bone structure	11285	B4GALT7	OMIM:130070
HP:0003330	Abnormal bone structure	11285	B4GALT7	ORPHA:75496
HP:0003330	Abnormal bone structure	10043	TOM1	ORPHA:391487
HP:0003330	Abnormal bone structure	595	CCND1	ORPHA:29073
HP:0003330	Abnormal bone structure	55699	IARS2	OMIM:616007
HP:0003330	Abnormal bone structure	8239	USP9X	ORPHA:480880
HP:0003330	Abnormal bone structure	285175	UNC80	OMIM:616801
HP:0003330	Abnormal bone structure	1650	DDOST	OMIM:614507
HP:0003330	Abnormal bone structure	1650	DDOST	ORPHA:300536
HP:0003330	Abnormal bone structure	80067	DCAF17	ORPHA:3464
HP:0003330	Abnormal bone structure	4893	NRAS	OMIM:163200
HP:0003330	Abnormal bone structure	3265	HRAS	OMIM:163200
HP:0003330	Abnormal bone structure	84992	PIGY	OMIM:616809
HP:0003330	Abnormal bone structure	79759	ZNF668	OMIM:620194
HP:0003330	Abnormal bone structure	79991	STN1	OMIM:617341
HP:0003330	Abnormal bone structure	6774	STAT3	OMIM:147060
HP:0003330	Abnormal bone structure	6774	STAT3	ORPHA:2314
HP:0003330	Abnormal bone structure	9247	GCM2	OMIM:617343
HP:0003330	Abnormal bone structure	9247	GCM2	ORPHA:99879
HP:0003330	Abnormal bone structure	11128	POLR3A	ORPHA:3455
HP:0003330	Abnormal bone structure	23314	SATB2	ORPHA:576283
HP:0003330	Abnormal bone structure	23314	SATB2	ORPHA:251028
HP:0003330	Abnormal bone structure	3187	HNRNPH1	OMIM:620083
HP:0003330	Abnormal bone structure	54941	RNF125	OMIM:616260
HP:0003330	Abnormal bone structure	79989	IFT56	OMIM:619534
HP:0003330	Abnormal bone structure	6603	SMARCD2	OMIM:617475
HP:0003330	Abnormal bone structure	10516	FBLN5	ORPHA:90348
HP:0003330	Abnormal bone structure	5832	ALDH18A1	ORPHA:90348
HP:0003330	Abnormal bone structure	5832	ALDH18A1	OMIM:616603
HP:0003330	Abnormal bone structure	50628	GEMIN4	OMIM:617913
HP:0003330	Abnormal bone structure	64116	SLC39A8	ORPHA:468699
HP:0003330	Abnormal bone structure	64116	SLC39A8	OMIM:616721
HP:0003330	Abnormal bone structure	404672	GTF2H5	ORPHA:33364
HP:0003330	Abnormal bone structure	833	CARS1	ORPHA:33364
HP:0003330	Abnormal bone structure	2068	ERCC2	ORPHA:33364
HP:0003330	Abnormal bone structure	7737	RNF113A	ORPHA:33364
HP:0003330	Abnormal bone structure	136647	MPLKIP	ORPHA:33364
HP:0003330	Abnormal bone structure	6897	TARS1	ORPHA:33364
HP:0003330	Abnormal bone structure	2071	ERCC3	ORPHA:33364
HP:0003330	Abnormal bone structure	2961	GTF2E2	ORPHA:33364
HP:0003330	Abnormal bone structure	10195	ALG3	ORPHA:79321
HP:0003330	Abnormal bone structure	387733	IFITM5	OMIM:610967
HP:0003330	Abnormal bone structure	1991	ELANE	ORPHA:486
HP:0003330	Abnormal bone structure	2672	GFI1	ORPHA:486
HP:0003330	Abnormal bone structure	81570	CLPB	ORPHA:486
HP:0003330	Abnormal bone structure	91252	SLC39A13	ORPHA:157965
HP:0003330	Abnormal bone structure	91252	SLC39A13	OMIM:612350
HP:0003330	Abnormal bone structure	9742	IFT140	OMIM:266920
HP:0003330	Abnormal bone structure	55151	TMEM38B	OMIM:615066
HP:0003330	Abnormal bone structure	7227	TRPS1	OMIM:190350
HP:0003330	Abnormal bone structure	7227	TRPS1	OMIM:190351
HP:0003330	Abnormal bone structure	5426	POLE	OMIM:618336
HP:0003330	Abnormal bone structure	2200	FBN1	ORPHA:2462
HP:0003330	Abnormal bone structure	6497	SKI	ORPHA:2462
HP:0003330	Abnormal bone structure	6497	SKI	OMIM:182212
HP:0003330	Abnormal bone structure	90417	KNSTRN	OMIM:613328
HP:0003330	Abnormal bone structure	90417	KNSTRN	ORPHA:221139
HP:0003330	Abnormal bone structure	5293	PIK3CD	OMIM:613328
HP:0003330	Abnormal bone structure	5293	PIK3CD	ORPHA:221139
HP:0003330	Abnormal bone structure	865	CBFB	OMIM:620099
HP:0003330	Abnormal bone structure	8818	DPM2	ORPHA:329178
HP:0003330	Abnormal bone structure	89970	RSPRY1	OMIM:616723
HP:0003330	Abnormal bone structure	89970	RSPRY1	ORPHA:457395
HP:0003330	Abnormal bone structure	128869	PIGU	OMIM:618590
HP:0003330	Abnormal bone structure	9871	SEC24D	OMIM:616294
HP:0003330	Abnormal bone structure	6809	STX3	OMIM:619445
HP:0003330	Abnormal bone structure	6809	STX3	OMIM:619446
HP:0003330	Abnormal bone structure	57520	HECW2	OMIM:617268
HP:0003330	Abnormal bone structure	169792	GLIS3	OMIM:610199
HP:0003330	Abnormal bone structure	55033	FKBP14	OMIM:614557
HP:0003330	Abnormal bone structure	55033	FKBP14	ORPHA:300179
HP:0003330	Abnormal bone structure	2530	FUT8	OMIM:618005
HP:0003330	Abnormal bone structure	10265	IRX5	OMIM:611174
HP:0003330	Abnormal bone structure	551	AVP	OMIM:125700
HP:0003330	Abnormal bone structure	55750	AGK	OMIM:212350
HP:0003330	Abnormal bone structure	4547	MTTP	ORPHA:14
HP:0003330	Abnormal bone structure	6557	SLC12A1	OMIM:601678
HP:0003330	Abnormal bone structure	3758	KCNJ1	OMIM:241200
HP:0003330	Abnormal bone structure	8985	PLOD3	OMIM:612394
HP:0003330	Abnormal bone structure	9419	CRIPT	OMIM:615789
HP:0003330	Abnormal bone structure	84701	COX4I2	OMIM:612714
HP:0003330	Abnormal bone structure	5660	PSAP	OMIM:610539
HP:0003330	Abnormal bone structure	10664	CTCF	ORPHA:363611
HP:0003330	Abnormal bone structure	5205	ATP8B1	OMIM:211600
HP:0003330	Abnormal bone structure	4796	TONSL	OMIM:271510
HP:0003330	Abnormal bone structure	6872	TAF1	OMIM:300966
HP:0003330	Abnormal bone structure	374879	ZNF699	OMIM:619488
HP:0003330	Abnormal bone structure	51124	IER3IP1	OMIM:614231
HP:0003330	Abnormal bone structure	6514	SLC2A2	ORPHA:2088
HP:0003330	Abnormal bone structure	50485	SMARCAL1	OMIM:242900
HP:0003330	Abnormal bone structure	6554	SLC10A1	OMIM:619256
HP:0003330	Abnormal bone structure	26503	SLC17A5	OMIM:269920
HP:0003330	Abnormal bone structure	4668	NAGA	OMIM:609241
HP:0003330	Abnormal bone structure	4194	MDM4	OMIM:618849
HP:0003330	Abnormal bone structure	375056	MIA3	OMIM:619269
HP:0003330	Abnormal bone structure	25886	POC1A	OMIM:614813
HP:0003330	Abnormal bone structure	875	CBS	ORPHA:394
HP:0003330	Abnormal bone structure	875	CBS	OMIM:236200
HP:0003330	Abnormal bone structure	83932	SPRTN	OMIM:616200
HP:0003330	Abnormal bone structure	2100	ESR2	OMIM:618187
HP:0003330	Abnormal bone structure	8838	CCN6	OMIM:208230
HP:0003330	Abnormal bone structure	6938	TCF12	OMIM:619718
HP:0003330	Abnormal bone structure	1593	CYP27A1	OMIM:213700
HP:0003330	Abnormal bone structure	1593	CYP27A1	ORPHA:909
HP:0003330	Abnormal bone structure	3815	KIT	ORPHA:98849
HP:0003330	Abnormal bone structure	2542	SLC37A4	OMIM:232220
HP:0003330	Abnormal bone structure	2542	SLC37A4	OMIM:619525
HP:0003330	Abnormal bone structure	2542	SLC37A4	ORPHA:79259
HP:0003330	Abnormal bone structure	80270	HSD3B7	ORPHA:79301
HP:0003330	Abnormal bone structure	91147	TMEM67	OMIM:602152
HP:0003330	Abnormal bone structure	3909	LAMA3	ORPHA:79404
HP:0003330	Abnormal bone structure	3918	LAMC2	ORPHA:79404
HP:0003330	Abnormal bone structure	3914	LAMB3	ORPHA:79404
HP:0003330	Abnormal bone structure	4312	MMP1	ORPHA:79408
HP:0003330	Abnormal bone structure	1294	COL7A1	ORPHA:79408
HP:0003330	Abnormal bone structure	79577	CDC73	ORPHA:143
HP:0003330	Abnormal bone structure	79577	CDC73	ORPHA:99880
HP:0003330	Abnormal bone structure	64072	CDH23	ORPHA:2965
HP:0003330	Abnormal bone structure	64072	CDH23	ORPHA:96253
HP:0003330	Abnormal bone structure	64072	CDH23	ORPHA:91347
HP:0003330	Abnormal bone structure	9049	AIP	ORPHA:2965
HP:0003330	Abnormal bone structure	9049	AIP	OMIM:219090
HP:0003330	Abnormal bone structure	4552	MTRR	ORPHA:2169
HP:0003330	Abnormal bone structure	50940	PDE11A	OMIM:610475
HP:0003330	Abnormal bone structure	50940	PDE11A	ORPHA:189439
HP:0003330	Abnormal bone structure	26012	NSMF	OMIM:614838
HP:0003330	Abnormal bone structure	26012	NSMF	ORPHA:432
HP:0003330	Abnormal bone structure	3764	KCNJ8	ORPHA:1517
HP:0003330	Abnormal bone structure	10060	ABCC9	ORPHA:1517
HP:0003330	Abnormal bone structure	10060	ABCC9	OMIM:239850
HP:0003330	Abnormal bone structure	51098	IFT52	ORPHA:1515
HP:0003330	Abnormal bone structure	55764	IFT122	ORPHA:1515
HP:0003330	Abnormal bone structure	55764	IFT122	OMIM:218330
HP:0003330	Abnormal bone structure	535	ATP6V0A1	OMIM:619971
HP:0003330	Abnormal bone structure	2859	GPR35	ORPHA:171
HP:0003330	Abnormal bone structure	10507	SEMA4D	ORPHA:171
HP:0003330	Abnormal bone structure	4485	MST1	ORPHA:171
HP:0003330	Abnormal bone structure	6925	TCF4	ORPHA:171
HP:0003330	Abnormal bone structure	54453	RIN2	OMIM:613075
HP:0003330	Abnormal bone structure	2538	G6PC1	OMIM:232200
HP:0003330	Abnormal bone structure	55858	TMEM165	OMIM:614727
HP:0003330	Abnormal bone structure	3117	HLA-DQA1	OMIM:212750
HP:0003330	Abnormal bone structure	3119	HLA-DQB1	OMIM:212750
HP:0003330	Abnormal bone structure	5095	PCCA	OMIM:606054
HP:0003330	Abnormal bone structure	5096	PCCB	OMIM:606054
HP:0003330	Abnormal bone structure	54872	PIGG	ORPHA:280
HP:0003330	Abnormal bone structure	7469	NELFA	ORPHA:280
HP:0003330	Abnormal bone structure	5424	POLD1	OMIM:615381
HP:0003330	Abnormal bone structure	2720	GLB1	OMIM:253010
HP:0003330	Abnormal bone structure	93627	TBCK	ORPHA:488632
HP:0003330	Abnormal bone structure	7471	WNT1	ORPHA:85193
HP:0003330	Abnormal bone structure	22943	DKK1	ORPHA:85193
HP:0003330	Abnormal bone structure	89780	WNT3A	ORPHA:85193
HP:0003330	Abnormal bone structure	6845	VAMP7	ORPHA:251510
HP:0003330	Abnormal bone structure	51741	WWOX	ORPHA:251510
HP:0003330	Abnormal bone structure	4214	MAP3K1	ORPHA:251510
HP:0003330	Abnormal bone structure	7490	WT1	ORPHA:251510
HP:0003330	Abnormal bone structure	58524	DMRT3	ORPHA:251510
HP:0003330	Abnormal bone structure	57647	DHX37	ORPHA:251510
HP:0003330	Abnormal bone structure	6736	SRY	ORPHA:251510
HP:0003330	Abnormal bone structure	23414	ZFPM2	ORPHA:251510
HP:0003330	Abnormal bone structure	190	NR0B1	ORPHA:251510
HP:0003330	Abnormal bone structure	2626	GATA4	ORPHA:251510
HP:0003330	Abnormal bone structure	64132	XYLT2	ORPHA:85194
HP:0003330	Abnormal bone structure	1588	CYP19A1	ORPHA:91
HP:0003330	Abnormal bone structure	2074	ERCC6	OMIM:214150
HP:0003330	Abnormal bone structure	2074	ERCC6	OMIM:133540
HP:0003330	Abnormal bone structure	1798	DPAGT1	ORPHA:86309
HP:0003330	Abnormal bone structure	9056	SLC7A7	ORPHA:470
HP:0003330	Abnormal bone structure	9056	SLC7A7	OMIM:222700
HP:0003330	Abnormal bone structure	51604	PIGT	OMIM:615398
HP:0003330	Abnormal bone structure	213	ALB	OMIM:616000
HP:0003330	Abnormal bone structure	5566	PRKACA	OMIM:615830
HP:0003330	Abnormal bone structure	5566	PRKACA	ORPHA:189439
HP:0003330	Abnormal bone structure	6135	RPL11	OMIM:612562
HP:0003330	Abnormal bone structure	79633	FAT4	OMIM:616006
HP:0003330	Abnormal bone structure	8622	PDE8B	ORPHA:189439
HP:0003330	Abnormal bone structure	6804	STX1A	ORPHA:904
HP:0003330	Abnormal bone structure	6804	STX1A	ORPHA:586
HP:0003330	Abnormal bone structure	7461	CLIP2	ORPHA:904
HP:0003330	Abnormal bone structure	84277	DNAJC30	ORPHA:904
HP:0003330	Abnormal bone structure	8468	FKBP6	ORPHA:904
HP:0003330	Abnormal bone structure	5982	RFC2	ORPHA:904
HP:0003330	Abnormal bone structure	2969	GTF2I	ORPHA:904
HP:0003330	Abnormal bone structure	3984	LIMK1	ORPHA:904
HP:0003330	Abnormal bone structure	9569	GTF2IRD1	ORPHA:904
HP:0003330	Abnormal bone structure	155382	VPS37D	ORPHA:904
HP:0003330	Abnormal bone structure	155368	METTL27	ORPHA:904
HP:0003330	Abnormal bone structure	114049	BUD23	ORPHA:904
HP:0003330	Abnormal bone structure	7458	EIF4H	ORPHA:904
HP:0003330	Abnormal bone structure	84163	GTF2IRD2	ORPHA:904
HP:0003330	Abnormal bone structure	9275	BCL7B	ORPHA:904
HP:0003330	Abnormal bone structure	26608	TBL2	ORPHA:904
HP:0003330	Abnormal bone structure	653361	NCF1	ORPHA:904
HP:0003330	Abnormal bone structure	135886	TMEM270	ORPHA:904
HP:0003330	Abnormal bone structure	51085	MLXIPL	ORPHA:904
HP:0003330	Abnormal bone structure	51085	MLXIPL	OMIM:194050
HP:0003330	Abnormal bone structure	9031	BAZ1B	ORPHA:904
HP:0003330	Abnormal bone structure	2006	ELN	ORPHA:904
HP:0003330	Abnormal bone structure	2006	ELN	OMIM:194050
HP:0003330	Abnormal bone structure	79798	ARMC5	OMIM:615954
HP:0003330	Abnormal bone structure	79798	ARMC5	ORPHA:189427
HP:0003330	Abnormal bone structure	5428	POLG	OMIM:203700
HP:0003330	Abnormal bone structure	5428	POLG	ORPHA:254892
HP:0003330	Abnormal bone structure	6134	RPL10	ORPHA:459070
HP:0003330	Abnormal bone structure	6134	RPL10	OMIM:300998
HP:0003330	Abnormal bone structure	799	CALCR	OMIM:166710
HP:0003330	Abnormal bone structure	8572	PDLIM4	OMIM:166710
HP:0003330	Abnormal bone structure	6609	SMPD1	OMIM:257200
HP:0003330	Abnormal bone structure	6609	SMPD1	ORPHA:77293
HP:0003330	Abnormal bone structure	4040	LRP6	OMIM:610947
HP:0003330	Abnormal bone structure	2947	GSTM3	ORPHA:586
HP:0003330	Abnormal bone structure	2729	GCLC	ORPHA:586
HP:0003330	Abnormal bone structure	1084	CEACAM3	ORPHA:586
HP:0003330	Abnormal bone structure	6556	SLC11A1	ORPHA:586
HP:0003330	Abnormal bone structure	51164	DCTN4	ORPHA:586
HP:0003330	Abnormal bone structure	3783	KCNN4	ORPHA:586
HP:0003330	Abnormal bone structure	4282	MIF	ORPHA:586
HP:0003330	Abnormal bone structure	1909	EDNRA	ORPHA:586
HP:0003330	Abnormal bone structure	6550	SLC9A3	ORPHA:586
HP:0003330	Abnormal bone structure	3162	HMOX1	ORPHA:586
HP:0003330	Abnormal bone structure	115019	SLC26A9	ORPHA:586
HP:0003330	Abnormal bone structure	3077	HFE	ORPHA:586
HP:0003330	Abnormal bone structure	3077	HFE	ORPHA:465508
HP:0003330	Abnormal bone structure	3077	HFE	OMIM:235200
HP:0003330	Abnormal bone structure	11254	SLC6A14	ORPHA:586
HP:0003330	Abnormal bone structure	5265	SERPINA1	ORPHA:586
HP:0003330	Abnormal bone structure	1080	CFTR	ORPHA:586
HP:0003330	Abnormal bone structure	22802	CLCA4	ORPHA:586
HP:0003330	Abnormal bone structure	4680	CEACAM6	ORPHA:586
HP:0003330	Abnormal bone structure	8733	GPAA1	ORPHA:529665
HP:0003330	Abnormal bone structure	6714	SRC	OMIM:616937
HP:0003330	Abnormal bone structure	540	ATP7B	OMIM:277900
HP:0003330	Abnormal bone structure	11107	PRDM5	ORPHA:90354
HP:0003330	Abnormal bone structure	84627	ZNF469	ORPHA:90354
HP:0003330	Abnormal bone structure	6638	SNRPN	ORPHA:98754
HP:0003330	Abnormal bone structure	6638	SNRPN	ORPHA:177904
HP:0003330	Abnormal bone structure	6638	SNRPN	ORPHA:177901
HP:0003330	Abnormal bone structure	4692	NDN	ORPHA:98754
HP:0003330	Abnormal bone structure	4692	NDN	ORPHA:177904
HP:0003330	Abnormal bone structure	4692	NDN	ORPHA:177901
HP:0003330	Abnormal bone structure	54551	MAGEL2	ORPHA:98754
HP:0003330	Abnormal bone structure	54551	MAGEL2	OMIM:176270
HP:0003330	Abnormal bone structure	54551	MAGEL2	ORPHA:177904
HP:0003330	Abnormal bone structure	54551	MAGEL2	ORPHA:177901
HP:0003330	Abnormal bone structure	54551	MAGEL2	ORPHA:398069
HP:0003330	Abnormal bone structure	4948	OCA2	ORPHA:98754
HP:0003330	Abnormal bone structure	4948	OCA2	ORPHA:177904
HP:0003330	Abnormal bone structure	4948	OCA2	ORPHA:177901
HP:0003330	Abnormal bone structure	9968	MED12	OMIM:301068
HP:0003330	Abnormal bone structure	5373	PMM2	ORPHA:79318
HP:0003330	Abnormal bone structure	5618	PRLR	ORPHA:397685
HP:0003330	Abnormal bone structure	55275	VPS53	OMIM:615851
HP:0003330	Abnormal bone structure	6611	SMS	OMIM:309583
HP:0003330	Abnormal bone structure	6611	SMS	ORPHA:3063
HP:0003330	Abnormal bone structure	654	BMP6	ORPHA:465508
HP:0003330	Abnormal bone structure	7048	TGFBR2	OMIM:610168
HP:0003330	Abnormal bone structure	5836	PYGL	ORPHA:369
HP:0003330	Abnormal bone structure	5256	PHKA2	ORPHA:264580
HP:0003330	Abnormal bone structure	5261	PHKG2	ORPHA:264580
HP:0003330	Abnormal bone structure	93587	TRMT10A	OMIM:616033
HP:0003330	Abnormal bone structure	6309	SC5D	OMIM:607330
HP:0003330	Abnormal bone structure	3479	IGF1	ORPHA:73272
HP:0003330	Abnormal bone structure	4088	SMAD3	ORPHA:284984
HP:0003330	Abnormal bone structure	291	SLC25A4	ORPHA:254892
HP:0003330	Abnormal bone structure	56652	TWNK	ORPHA:254892
HP:0003330	Abnormal bone structure	11232	POLG2	ORPHA:254892
HP:0003330	Abnormal bone structure	50484	RRM2B	ORPHA:254892
HP:0003330	Abnormal bone structure	2796	GNRH1	ORPHA:432
HP:0003330	Abnormal bone structure	2798	GNRHR	ORPHA:432
HP:0003330	Abnormal bone structure	84634	KISS1R	ORPHA:432
HP:0003330	Abnormal bone structure	6866	TAC3	ORPHA:432
HP:0003330	Abnormal bone structure	3814	KISS1	ORPHA:432
HP:0003330	Abnormal bone structure	5351	PLOD1	OMIM:225400
HP:0003330	Abnormal bone structure	5351	PLOD1	ORPHA:1900
HP:0003330	Abnormal bone structure	7681	MKRN3	OMIM:176270
HP:0003330	Abnormal bone structure	3653	IPW	OMIM:176270
HP:0003330	Abnormal bone structure	791114	PWRN1	OMIM:176270
HP:0003330	Abnormal bone structure	100033413	SNORD116-1	OMIM:176270
HP:0003330	Abnormal bone structure	8924	HERC2	OMIM:176270
HP:0003330	Abnormal bone structure	145624	PWAR1	OMIM:176270
HP:0003330	Abnormal bone structure	23742	NPAP1	OMIM:176270
HP:0003330	Abnormal bone structure	338433	SNORD115-1	OMIM:176270
HP:0003330	Abnormal bone structure	2099	ESR1	ORPHA:785
HP:0003330	Abnormal bone structure	51103	NDUFAF1	OMIM:618234
HP:0003330	Abnormal bone structure	6492	SIM1	ORPHA:398079
HP:0003330	Abnormal bone structure	2710	GK	OMIM:307030
HP:0003330	Abnormal bone structure	84196	USP48	ORPHA:96253
HP:0003330	Abnormal bone structure	9101	USP8	ORPHA:96253
HP:0003330	Abnormal bone structure	9101	USP8	OMIM:219090
HP:0003330	Abnormal bone structure	2908	NR3C1	ORPHA:96253
HP:0003330	Abnormal bone structure	673	BRAF	ORPHA:96253
HP:0003330	Abnormal bone structure	546	ATRX	ORPHA:96253
HP:0003330	Abnormal bone structure	22930	RAB3GAP1	OMIM:600118
HP:0003330	Abnormal bone structure	165	AEBP1	OMIM:618000
HP:0003330	Abnormal bone structure	5257	PHKB	ORPHA:79240
HP:0003330	Abnormal bone structure	9719	ADAMTSL2	ORPHA:1901
HP:0003330	Abnormal bone structure	9509	ADAMTS2	ORPHA:1901
HP:0003330	Abnormal bone structure	23395	LARS2	OMIM:615300
HP:0003330	Abnormal bone structure	57817	HAMP	ORPHA:79230
HP:0003330	Abnormal bone structure	148738	HJV	ORPHA:79230
HP:0003330	Abnormal bone structure	650	BMP2	OMIM:235200
HP:0003330	Abnormal bone structure	9150	CTDP1	ORPHA:48431
HP:0003330	Abnormal bone structure	9368	NHERF1	OMIM:612287
HP:0003330	Abnormal bone structure	2588	GALNS	OMIM:253000
HP:0003330	Abnormal bone structure	5352	PLOD2	ORPHA:2771
HP:0003330	Abnormal bone structure	60681	FKBP10	ORPHA:2771
HP:0003330	Abnormal bone structure	60681	FKBP10	OMIM:259450
HP:0003330	Abnormal bone structure	3594	IL12RB1	ORPHA:186
HP:0003330	Abnormal bone structure	23534	TNPO3	ORPHA:186
HP:0003330	Abnormal bone structure	3592	IL12A	ORPHA:186
HP:0003330	Abnormal bone structure	6689	SPIB	ORPHA:186
HP:0003330	Abnormal bone structure	5450	POU2AF1	ORPHA:186
HP:0003330	Abnormal bone structure	9966	TNFSF15	ORPHA:186
HP:0003330	Abnormal bone structure	79258	MMEL1	ORPHA:186
HP:0003330	Abnormal bone structure	100147744	RNU7-1	OMIM:619487
HP:0003330	Abnormal bone structure	79983	POF1B	OMIM:300604
HP:0003330	Abnormal bone structure	3295	HSD17B4	OMIM:233400
HP:0003330	Abnormal bone structure	55252	ASXL2	OMIM:617190
HP:0003330	Abnormal bone structure	11014	KDELR2	OMIM:619131
HP:0003330	Abnormal bone structure	55811	ADCY10	ORPHA:2197
HP:0003330	Abnormal bone structure	166929	SGMS2	OMIM:126550
HP:0003330	Abnormal bone structure	26229	B3GAT3	OMIM:245600
HP:0003330	Abnormal bone structure	10892	MALT1	OMIM:615468
HP:0003330	Abnormal bone structure	121340	SP7	OMIM:613849
HP:0003330	Abnormal bone structure	9361	LONP1	OMIM:600373
HP:0003330	Abnormal bone structure	3549	IHH	OMIM:607778
HP:0003330	Abnormal bone structure	633	BGN	OMIM:300106
HP:0003330	Abnormal bone structure	23233	EXOC6B	OMIM:618395
HP:0003330	Abnormal bone structure	2137	EXTL3	OMIM:617425
HP:0003330	Abnormal bone structure	55650	PIGV	OMIM:239300
HP:0003330	Abnormal bone structure	4313	MMP2	ORPHA:371428
HP:0003330	Abnormal bone structure	4313	MMP2	OMIM:259600
HP:0003330	Abnormal bone structure	4323	MMP14	ORPHA:371428
HP:0003330	Abnormal bone structure	4323	MMP14	OMIM:277950
HP:0003330	Abnormal bone structure	9935	MAFB	OMIM:166300
HP:0003330	Abnormal bone structure	9935	MAFB	ORPHA:2774
HP:0003330	Abnormal bone structure	1184	CLCN5	OMIM:300554
HP:0003330	Abnormal bone structure	1184	CLCN5	OMIM:300009
HP:0003330	Abnormal bone structure	1594	CYP27B1	ORPHA:289157
HP:0003330	Abnormal bone structure	1594	CYP27B1	OMIM:264700
HP:0003330	Abnormal bone structure	120227	CYP2R1	ORPHA:289157
HP:0003330	Abnormal bone structure	120227	CYP2R1	OMIM:600081
HP:0003330	Abnormal bone structure	23761	PISD	OMIM:618889
HP:0003330	Abnormal bone structure	1299	COL9A3	OMIM:600969
HP:0003330	Abnormal bone structure	51025	PAM16	OMIM:613320
HP:0003330	Abnormal bone structure	406932	MIR140	OMIM:618618
HP:0003330	Abnormal bone structure	374654	KIF7	ORPHA:166024
HP:0003330	Abnormal bone structure	2879	GPX4	OMIM:250220
HP:0003330	Abnormal bone structure	139285	AMER1	OMIM:300373
HP:0003330	Abnormal bone structure	23387	SIK3	OMIM:618162
HP:0003330	Abnormal bone structure	54	ACP5	OMIM:607944
HP:0003330	Abnormal bone structure	7040	TGFB1	OMIM:131300
HP:0003330	Abnormal bone structure	79639	TMEM53	OMIM:619727
HP:0003330	Abnormal bone structure	56172	ANKH	OMIM:123000
HP:0003330	Abnormal bone structure	6885	MAP3K7	ORPHA:1826
HP:0003330	Abnormal bone structure	26040	SETBP1	OMIM:269150
HP:0003330	Abnormal bone structure	26040	SETBP1	ORPHA:798
HP:0003330	Abnormal bone structure	388015	RTL1	ORPHA:96334
HP:0003330	Abnormal bone structure	8788	DLK1	ORPHA:96334
HP:0003330	Abnormal bone structure	55384	MEG3	ORPHA:96334
HP:0003330	Abnormal bone structure	6521	SLC4A1	OMIM:611590
HP:0003330	Abnormal bone structure	570	BAAT	OMIM:619232
HP:0003330	Abnormal bone structure	4952	OCRL	OMIM:309000
HP:0003330	Abnormal bone structure	6718	AKR1D1	ORPHA:79303
HP:0003330	Abnormal bone structure	9414	TJP2	OMIM:607748
HP:0003330	Abnormal bone structure	50617	ATP6V0A4	OMIM:602722
HP:0003330	Abnormal bone structure	6850	SYK	OMIM:619381
HP:0003330	Abnormal bone structure	1175	AP2S1	OMIM:600740
HP:0003330	Abnormal bone structure	5593	PRKG2	OMIM:619638
HP:0003330	Abnormal bone structure	81794	ADAMTS10	OMIM:277600
HP:0003330	Abnormal bone structure	1499	CTNNB1	ORPHA:873
HP:0003330	Abnormal bone structure	324	APC	ORPHA:873
HP:0003330	Abnormal bone structure	171023	ASXL1	ORPHA:98850
HP:0003330	Abnormal bone structure	54790	TET2	ORPHA:98850
HP:0003330	Abnormal bone structure	867	CBL	ORPHA:98850
HP:0003330	Abnormal bone structure	861	RUNX1	ORPHA:98850
HP:0003330	Abnormal bone structure	6427	SRSF2	ORPHA:98850
HP:0003330	Abnormal bone structure	538	ATP7A	ORPHA:198
HP:0003330	Abnormal bone structure	8518	ELP1	ORPHA:1764
HP:0003330	Abnormal bone structure	7157	TP53	ORPHA:668
HP:0003330	Abnormal bone structure	5925	RB1	ORPHA:668
HP:0003330	Abnormal bone structure	11200	CHEK2	ORPHA:668
HP:0003330	Abnormal bone structure	8517	IKBKG	ORPHA:464
HP:0003330	Abnormal bone structure	4125	MAN2B1	ORPHA:309282
HP:0003330	Abnormal bone structure	8792	TNFRSF11A	OMIM:174810
HP:0003330	Abnormal bone structure	8792	TNFRSF11A	OMIM:602080
HP:0003330	Abnormal bone structure	63916	ELMO2	ORPHA:3019
HP:0003330	Abnormal bone structure	8878	SQSTM1	OMIM:167250
HP:0003330	Abnormal bone structure	3557	IL1RN	OMIM:612852
HP:0003330	Abnormal bone structure	51360	MBTPS2	ORPHA:659
HP:0003330	Abnormal bone structure	162514	TRPV3	ORPHA:659
HP:0003330	Abnormal bone structure	64065	PERP	ORPHA:659
HP:0003330	Abnormal bone structure	10651	MTX2	ORPHA:90153
HP:0003330	Abnormal bone structure	3178	HNRNPA1	ORPHA:52430
HP:0003330	Abnormal bone structure	3181	HNRNPA2B1	ORPHA:52430
HP:0003330	Abnormal bone structure	4221	MEN1	ORPHA:652
HP:0003330	Abnormal bone structure	1027	CDKN1B	ORPHA:652
HP:0003330	Abnormal bone structure	1026	CDKN1A	ORPHA:652
HP:0003330	Abnormal bone structure	1030	CDKN2B	ORPHA:652
HP:0003330	Abnormal bone structure	1031	CDKN2C	ORPHA:652
HP:0003330	Abnormal bone structure	5745	PTH1R	ORPHA:296
HP:0003330	Abnormal bone structure	3418	IDH2	ORPHA:296
HP:0003330	Abnormal bone structure	3418	IDH2	ORPHA:163634
HP:0003330	Abnormal bone structure	3417	IDH1	ORPHA:296
HP:0003330	Abnormal bone structure	3417	IDH1	ORPHA:163634
HP:0003330	Abnormal bone structure	2706	GJB2	ORPHA:494
HP:0003330	Abnormal bone structure	7390	UROS	OMIM:263700
HP:0003330	Abnormal bone structure	7390	UROS	ORPHA:79277
HP:0003330	Abnormal bone structure	8815	BANF1	OMIM:614008
HP:0003330	Abnormal bone structure	7389	UROD	ORPHA:95159
HP:0003330	Abnormal bone structure	1281	COL3A1	ORPHA:286
HP:0003330	Abnormal bone structure	2629	GBA1	ORPHA:77261
HP:0003330	Abnormal bone structure	2629	GBA1	ORPHA:77259
HP:0003330	Abnormal bone structure	9184	BUB3	ORPHA:1052
HP:0003330	Abnormal bone structure	699	BUB1	ORPHA:1052
HP:0003330	Abnormal bone structure	9702	CEP57	ORPHA:1052
HP:0003330	Abnormal bone structure	9319	TRIP13	ORPHA:1052
HP:0003330	Abnormal bone structure	701	BUB1B	ORPHA:1052
HP:0003330	Abnormal bone structure	118429	ANTXR2	OMIM:228600
HP:0003330	Abnormal bone structure	118429	ANTXR2	ORPHA:2028
HP:0003330	Abnormal bone structure	55315	SLC29A3	ORPHA:168569
HP:0003330	Abnormal bone structure	1235	CCR6	ORPHA:220393
HP:0003330	Abnormal bone structure	1490	CCN2	ORPHA:220393
HP:0003330	Abnormal bone structure	3663	IRF5	ORPHA:220393
HP:0003330	Abnormal bone structure	9487	PIGL	ORPHA:3474
HP:0003330	Abnormal bone structure	2623	GATA1	ORPHA:79277
HP:0003330	Abnormal bone structure	950	SCARB2	ORPHA:77259
HP:0003330	Abnormal bone structure	1075	CTSC	ORPHA:678
HP:0003330	Abnormal bone structure	8675	STX16	ORPHA:94089
HP:0003330	Abnormal bone structure	760	CA2	OMIM:259730
HP:0003330	Abnormal bone structure	6335	SCN9A	ORPHA:970
HP:0003330	Abnormal bone structure	65125	WNK1	ORPHA:970
HP:0003330	Abnormal bone structure	54463	RETREG1	ORPHA:970
HP:0003330	Abnormal bone structure	547	KIF1A	ORPHA:970
HP:0003330	Abnormal bone structure	50814	NSDHL	OMIM:300831
HP:0003330	Abnormal bone structure	3977	LIFR	ORPHA:3206
HP:0003330	Abnormal bone structure	59341	TRPV4	ORPHA:2635
HP:0003330	Abnormal bone structure	9791	PTDSS1	ORPHA:2658
HP:0003330	Abnormal bone structure	2733	GLE1	ORPHA:1486
HP:0003330	Abnormal bone structure	5824	PEX19	OMIM:614886
HP:0003330	Abnormal bone structure	6916	TBXAS1	ORPHA:1802
HP:0003330	Abnormal bone structure	3248	HPGD	ORPHA:2796
HP:0003330	Abnormal bone structure	3248	HPGD	ORPHA:1525
HP:0003330	Abnormal bone structure	6578	SLCO2A1	ORPHA:2796
HP:0003330	Abnormal bone structure	2697	GJA1	ORPHA:2710
HP:0003330	Abnormal bone structure	9276	COPB2	ORPHA:2512
HP:0003330	Abnormal bone structure	11113	CIT	ORPHA:2512
HP:0003330	Abnormal bone structure	9928	KIF14	ORPHA:2512
HP:0003330	Abnormal bone structure	22995	CEP152	ORPHA:2512
HP:0003330	Abnormal bone structure	284403	WDR62	ORPHA:2512
HP:0003330	Abnormal bone structure	55262	TRAPPC14	ORPHA:2512
HP:0003330	Abnormal bone structure	163786	SASS6	ORPHA:2512
HP:0003330	Abnormal bone structure	29920	PYCR2	ORPHA:2512
HP:0003330	Abnormal bone structure	84879	MFSD2A	ORPHA:2512
HP:0003330	Abnormal bone structure	4176	MCM7	ORPHA:2512
HP:0003330	Abnormal bone structure	80254	CEP63	ORPHA:2512
HP:0003330	Abnormal bone structure	29081	METTL5	ORPHA:2512
HP:0003330	Abnormal bone structure	23310	NCAPD3	ORPHA:2512
HP:0003330	Abnormal bone structure	55755	CDK5RAP2	ORPHA:2512
HP:0003330	Abnormal bone structure	79648	MCPH1	ORPHA:2512
HP:0003330	Abnormal bone structure	6491	STIL	ORPHA:2512
HP:0003330	Abnormal bone structure	23141	ANKLE2	ORPHA:2512
HP:0003330	Abnormal bone structure	259266	ASPM	ORPHA:2512
HP:0003330	Abnormal bone structure	7109	TRAPPC10	ORPHA:2512
HP:0003330	Abnormal bone structure	1911	PHC1	ORPHA:2512
HP:0003330	Abnormal bone structure	6884	TAF13	ORPHA:2512
HP:0003330	Abnormal bone structure	9662	CEP135	ORPHA:2512
HP:0003330	Abnormal bone structure	55835	CENPJ	ORPHA:2512
HP:0003330	Abnormal bone structure	57082	KNL1	ORPHA:2512
HP:0003330	Abnormal bone structure	1021	CDK6	ORPHA:2512
HP:0003330	Abnormal bone structure	4038	LRP4	ORPHA:3152
HP:0003330	Abnormal bone structure	175	AGA	ORPHA:93
HP:0003330	Abnormal bone structure	2131	EXT1	ORPHA:321
HP:0003330	Abnormal bone structure	1280	COL2A1	ORPHA:485
HP:0003330	Abnormal bone structure	2316	FLNA	OMIM:300244
HP:0003330	Abnormal bone structure	3043	HBB	ORPHA:46532
HP:0003330	Abnormal bone structure	10661	KLF1	ORPHA:46532
HP:0003330	Abnormal bone structure	3047	HBG1	ORPHA:46532
HP:0003330	Abnormal bone structure	3048	HBG2	ORPHA:46532
HP:0003330	Abnormal bone structure	1836	SLC26A2	ORPHA:93298
HP:0003330	Abnormal bone structure	57167	SALL4	ORPHA:959
HP:0003330	Abnormal bone structure	54809	SAMD9	OMIM:617053
HP:0003330	Abnormal bone structure	2737	GLI3	ORPHA:93322
HP:0003330	Abnormal bone structure	84068	SLC10A7	OMIM:618363
HP:0003330	Abnormal bone structure	29072	SETD2	OMIM:616831
HP:0003330	Abnormal bone structure	5144	PDE4D	OMIM:614613
HP:0003330	Abnormal bone structure	54187	NANS	OMIM:610442
HP:0003330	Abnormal bone structure	64131	XYLT1	OMIM:615777
HP:0003330	Abnormal bone structure	347734	SLC35B2	OMIM:620269
HP:0003330	Abnormal bone structure	23169	SLC35D1	OMIM:269250
HP:0003330	Abnormal bone structure	124583	CANT1	OMIM:617719
HP:0003330	Abnormal bone structure	124583	CANT1	OMIM:251450
HP:0003330	Abnormal bone structure	10568	SLC34A2	ORPHA:60025
HP:0003330	Abnormal bone structure	5727	PTCH1	OMIM:109400
HP:0003330	Abnormal bone structure	55733	HHAT	ORPHA:1422
HP:0003330	Abnormal bone structure	5934	RBL2	OMIM:619690
HP:0003330	Abnormal bone structure	1436	CSF1R	OMIM:618476
HP:0003330	Abnormal bone structure	28962	OSTM1	ORPHA:85179
HP:0003330	Abnormal bone structure	3930	LBR	OMIM:215140
HP:0003330	Abnormal bone structure	3930	LBR	ORPHA:1426
HP:0003330	Abnormal bone structure	9321	TRIP11	OMIM:200600
HP:0003330	Abnormal bone structure	6905	TBCE	OMIM:244460
HP:0003330	Abnormal bone structure	6905	TBCE	ORPHA:93324
HP:0003330	Abnormal bone structure	10484	SEC23A	ORPHA:50814
HP:0003330	Abnormal bone structure	4000	LMNA	ORPHA:1662
HP:0003330	Abnormal bone structure	10269	ZMPSTE24	ORPHA:1662
HP:0003330	Abnormal bone structure	2132	EXT2	ORPHA:52022
HP:0003330	Abnormal bone structure	60529	ALX4	ORPHA:52022
HP:0003330	Abnormal bone structure	51317	PHF21A	ORPHA:52022
HP:0003330	Abnormal bone structure	10013	HDAC6	OMIM:300863
HP:0003330	Abnormal bone structure	79796	ALG9	OMIM:263210
HP:0003330	Abnormal bone structure	202018	TAPT1	OMIM:616897
HP:0003330	Abnormal bone structure	4352	MPL	ORPHA:3319
HP:0003330	Abnormal bone structure	7066	THPO	ORPHA:3319
HP:0003330	Abnormal bone structure	860	RUNX2	ORPHA:1452
HP:0003330	Abnormal bone structure	84168	ANTXR1	ORPHA:2067
HP:0003330	Abnormal bone structure	4853	NOTCH2	ORPHA:955
HP:0003330	Abnormal bone structure	60386	SLC25A19	ORPHA:99742
HP:0003330	Abnormal bone structure	63901	FAM111A	ORPHA:93325
HP:0003330	Abnormal bone structure	63901	FAM111A	OMIM:602361
HP:0003330	Abnormal bone structure	29957	SLC25A24	ORPHA:2963
HP:0003330	Abnormal bone structure	64175	P3H1	OMIM:610915
HP:0003330	Abnormal bone structure	9790	BMS1	ORPHA:1114
HP:0003330	Abnormal bone structure	5339	PLEC	ORPHA:1114
HP:0003330	Abnormal bone structure	10054	UBA2	ORPHA:1114
HP:0003330	Abnormal bone structure	3691	ITGB4	ORPHA:1114
HP:0003330	Abnormal bone structure	54567	DLL4	ORPHA:1114
HP:0003330	Abnormal bone structure	84172	POLR1B	ORPHA:861
HP:0003330	Abnormal bone structure	9533	POLR1C	ORPHA:861
HP:0003330	Abnormal bone structure	51082	POLR1D	ORPHA:861
HP:0003330	Abnormal bone structure	6949	TCOF1	ORPHA:861
HP:0003330	Abnormal bone structure	26146	TRAF3IP1	ORPHA:3156
HP:0003330	Abnormal bone structure	9657	IQCB1	ORPHA:3156
HP:0003330	Abnormal bone structure	10806	SDCCAG8	ORPHA:3156
HP:0003330	Abnormal bone structure	27130	INVS	ORPHA:3156
HP:0003330	Abnormal bone structure	80184	CEP290	ORPHA:3156
HP:0003330	Abnormal bone structure	4867	NPHP1	ORPHA:3156
HP:0003330	Abnormal bone structure	261734	NPHP4	ORPHA:3156
HP:0003330	Abnormal bone structure	57728	WDR19	ORPHA:3156
HP:0003330	Abnormal bone structure	27031	NPHP3	ORPHA:3156
HP:0003330	Abnormal bone structure	22897	CEP164	ORPHA:3156
HP:0003330	Abnormal bone structure	1501	CTNND2	ORPHA:281
HP:0003330	Abnormal bone structure	9037	SEMA5A	ORPHA:281
HP:0003330	Abnormal bone structure	9723	SEMA3E	ORPHA:138
HP:0003330	Abnormal bone structure	79879	CCDC134	OMIM:619795
HP:0003330	Abnormal bone structure	6424	SFRP4	OMIM:265900
HP:0003330	Abnormal bone structure	5034	P4HB	OMIM:112240
HP:0003330	Abnormal bone structure	2335	FN1	ORPHA:93315
HP:0003330	Abnormal bone structure	55325	UFSP2	OMIM:617974
HP:0003330	Abnormal bone structure	4010	LMX1B	ORPHA:2614
HP:0003330	Abnormal bone structure	5604	MAP2K1	OMIM:615279
HP:0003330	Abnormal bone structure	2767	GNA11	ORPHA:428
HP:0003330	Abnormal bone structure	2767	GNA11	ORPHA:1556
HP:0003330	Abnormal bone structure	846	CASR	ORPHA:428
HP:0003330	Abnormal bone structure	10056	FARSB	OMIM:613658
HP:0003330	Abnormal bone structure	5184	PEPD	ORPHA:742
HP:0003330	Abnormal bone structure	29887	SNX10	ORPHA:667
HP:0003330	Abnormal bone structure	8720	MBTPS1	OMIM:618392
HP:0003330	Abnormal bone structure	9131	AIFM1	ORPHA:83629
HP:0003330	Abnormal bone structure	221496	LEMD2	OMIM:619322
HP:0003330	Abnormal bone structure	60676	PAPPA2	OMIM:619489
HP:0003330	Abnormal bone structure	1528	CYB5A	ORPHA:90796
HP:0003330	Abnormal bone structure	1586	CYP17A1	ORPHA:90796
HP:0003330	Abnormal bone structure	7486	WRN	OMIM:277700
HP:0003330	Abnormal bone structure	4773	NFATC2	OMIM:620232
HP:0003330	Abnormal bone structure	151188	ARL6IP6	ORPHA:1556
HP:0003330	Abnormal bone structure	2592	GALT	ORPHA:79239
HP:0003330	Abnormal bone structure	4693	NDP	ORPHA:891
HP:0003330	Abnormal bone structure	23554	TSPAN12	ORPHA:891
HP:0003330	Abnormal bone structure	79797	ZNF408	ORPHA:891
HP:0003330	Abnormal bone structure	8322	FZD4	ORPHA:891
HP:0003330	Abnormal bone structure	55898	UNC45A	OMIM:619377
HP:0003330	Abnormal bone structure	142680	SLC34A3	ORPHA:157215
HP:0003330	Abnormal bone structure	6569	SLC34A1	ORPHA:157215
HP:0003330	Abnormal bone structure	1583	CYP11A1	ORPHA:168558
HP:0003330	Abnormal bone structure	1583	CYP11A1	ORPHA:289548
HP:0003330	Abnormal bone structure	672	BRCA1	ORPHA:84
HP:0003330	Abnormal bone structure	10459	MAD2L2	ORPHA:84
HP:0003330	Abnormal bone structure	7516	XRCC2	ORPHA:84
HP:0003330	Abnormal bone structure	29089	UBE2T	ORPHA:84
HP:0003330	Abnormal bone structure	675	BRCA2	ORPHA:84
HP:0003330	Abnormal bone structure	55120	FANCL	ORPHA:84
HP:0003330	Abnormal bone structure	2177	FANCD2	ORPHA:84
HP:0003330	Abnormal bone structure	2175	FANCA	ORPHA:84
HP:0003330	Abnormal bone structure	2187	FANCB	ORPHA:84
HP:0003330	Abnormal bone structure	2176	FANCC	ORPHA:84
HP:0003330	Abnormal bone structure	2178	FANCE	ORPHA:84
HP:0003330	Abnormal bone structure	2188	FANCF	ORPHA:84
HP:0003330	Abnormal bone structure	2189	FANCG	ORPHA:84
HP:0003330	Abnormal bone structure	5889	RAD51C	ORPHA:84
HP:0003330	Abnormal bone structure	55159	RFWD3	ORPHA:84
HP:0003330	Abnormal bone structure	83990	BRIP1	ORPHA:84
HP:0003330	Abnormal bone structure	57697	FANCM	ORPHA:84
HP:0003330	Abnormal bone structure	79728	PALB2	ORPHA:84
HP:0003330	Abnormal bone structure	84464	SLX4	ORPHA:84
HP:0003330	Abnormal bone structure	2072	ERCC4	ORPHA:84
HP:0003330	Abnormal bone structure	55215	FANCI	ORPHA:84
HP:0003330	Abnormal bone structure	6678	SPARC	OMIM:616507
HP:0003330	Abnormal bone structure	8481	OFD1	ORPHA:2750
HP:0003330	Abnormal bone structure	51608	GET4	OMIM:620200
HP:0003330	Abnormal bone structure	2717	GLA	ORPHA:324
HP:0003330	Abnormal bone structure	3081	HGD	ORPHA:56
HP:0003330	Abnormal bone structure	114548	NLRP3	ORPHA:1451
HP:0003330	Abnormal bone structure	649	BMP1	OMIM:614856
HP:0003330	Abnormal bone structure	8883	NAE1	OMIM:620210
HP:0003330	Abnormal bone structure	10371	SEMA3A	ORPHA:478
HP:0003330	Abnormal bone structure	81848	SPRY4	ORPHA:478
HP:0003330	Abnormal bone structure	23767	FLRT3	ORPHA:478
HP:0003330	Abnormal bone structure	128674	PROKR2	ORPHA:478
HP:0003330	Abnormal bone structure	79625	NDNF	ORPHA:478
HP:0003330	Abnormal bone structure	2253	FGF8	ORPHA:478
HP:0003330	Abnormal bone structure	389549	FEZF1	ORPHA:478
HP:0003330	Abnormal bone structure	1630	DCC	ORPHA:478
HP:0003330	Abnormal bone structure	3730	ANOS1	ORPHA:478
HP:0003330	Abnormal bone structure	54756	IL17RD	ORPHA:478
HP:0003330	Abnormal bone structure	6663	SOX10	ORPHA:478
HP:0003330	Abnormal bone structure	285025	CCDC141	ORPHA:478
HP:0003330	Abnormal bone structure	60675	PROK2	ORPHA:478
HP:0003330	Abnormal bone structure	55636	CHD7	ORPHA:478
HP:0003330	Abnormal bone structure	1848	DUSP6	ORPHA:478
HP:0003330	Abnormal bone structure	6870	TACR3	ORPHA:478
HP:0003330	Abnormal bone structure	55717	WDR11	ORPHA:478
HP:0003330	Abnormal bone structure	9394	HS6ST1	ORPHA:478
HP:0003330	Abnormal bone structure	8822	FGF17	ORPHA:478
HP:0003330	Abnormal bone structure	4322	MMP13	ORPHA:2501
HP:0003330	Abnormal bone structure	7415	VCP	ORPHA:329475
HP:0003330	Abnormal bone structure	3955	LFNG	OMIM:609813
HP:0003330	Abnormal bone structure	55112	DYNC2I1	ORPHA:93271
HP:0003330	Abnormal bone structure	57560	IFT80	ORPHA:93271
HP:0003330	Abnormal bone structure	57539	WDR35	ORPHA:93271
HP:0003330	Abnormal bone structure	79659	DYNC2H1	ORPHA:93271
HP:0003330	Abnormal bone structure	89891	DYNC2I2	ORPHA:93271
HP:0003330	Abnormal bone structure	6628	SNRPB	OMIM:117650
HP:0003330	Abnormal bone structure	415	ARSL	ORPHA:79345
HP:0003330	Abnormal bone structure	1497	CTNS	OMIM:219800
HP:0003330	Abnormal bone structure	3172	HNF4A	ORPHA:263455
HP:0003330	Abnormal bone structure	5442	POLRMT	OMIM:619743
HP:0003330	Abnormal bone structure	137682	NDUFAF6	OMIM:618913
HP:0003330	Abnormal bone structure	137682	NDUFAF6	ORPHA:3337
HP:0003330	Abnormal bone structure	4665	NAB2	ORPHA:2126
HP:0003330	Abnormal bone structure	6778	STAT6	ORPHA:2126
HP:0003330	Abnormal bone structure	8074	FGF23	OMIM:193100
HP:0003330	Abnormal bone structure	1962	EHHADH	ORPHA:3337
HP:0003330	Abnormal bone structure	2628	GATM	ORPHA:3337
HP:0003330	Abnormal bone structure	54808	DYM	OMIM:223800
HP:0003330	Abnormal bone structure	8905	AP1S2	OMIM:304340
HP:0003330	Abnormal bone structure	9365	KL	OMIM:617994
HP:0003330	Abnormal bone structure	1855	DVL1	OMIM:616331
HP:0003330	Abnormal bone structure	249	ALPL	OMIM:241500
HP:0003330	Abnormal bone structure	5530	PPP3CA	OMIM:618265
HP:0003330	Abnormal bone structure	112752	IFT43	OMIM:617866
HP:0003330	Abnormal bone structure	10491	CRTAP	OMIM:610682
HP:0003330	Abnormal bone structure	27152	INTU	OMIM:617925
HP:0003330	Abnormal bone structure	90993	CREB3L1	OMIM:616229
HP:0003330	Abnormal bone structure	79770	TXNDC15	OMIM:619879
HP:0003330	Abnormal bone structure	7476	WNT7A	OMIM:276820
HP:0003330	Abnormal bone structure	5479	PPIB	OMIM:259440
HP:0003330	Abnormal bone structure	871	SERPINH1	OMIM:613848
HP:0003330	Abnormal bone structure	3911	LAMA5	OMIM:620076
HP:0003330	Abnormal bone structure	29893	PSMC3IP	ORPHA:243
HP:0003330	Abnormal bone structure	171568	POLR3H	ORPHA:243
HP:0003330	Abnormal bone structure	2516	NR5A1	ORPHA:243
HP:0003330	Abnormal bone structure	125150	ZSWIM7	ORPHA:243
HP:0003330	Abnormal bone structure	9210	BMP15	ORPHA:243
HP:0003330	Abnormal bone structure	57122	NUP107	ORPHA:243
HP:0003330	Abnormal bone structure	23514	SPIDR	ORPHA:243
HP:0003330	Abnormal bone structure	2492	FSHR	ORPHA:243
HP:0003330	Abnormal bone structure	56945	MRPS22	ORPHA:243
HP:0003330	Abnormal bone structure	646	BNC1	ORPHA:243
HP:0003330	Abnormal bone structure	5626	PROP1	ORPHA:95494
HP:0003330	Abnormal bone structure	5626	PROP1	ORPHA:90695
HP:0003330	Abnormal bone structure	2736	GLI2	ORPHA:95494
HP:0003330	Abnormal bone structure	89884	LHX4	ORPHA:95494
HP:0003330	Abnormal bone structure	3170	FOXA2	ORPHA:95494
HP:0003330	Abnormal bone structure	5449	POU1F1	ORPHA:95494
HP:0003330	Abnormal bone structure	8820	HESX1	ORPHA:95494
HP:0003330	Abnormal bone structure	5015	OTX2	ORPHA:95494
HP:0003330	Abnormal bone structure	6658	SOX3	ORPHA:90695
HP:0003330	Abnormal bone structure	10312	TCIRG1	ORPHA:210110
HP:0003330	Abnormal bone structure	1186	CLCN7	ORPHA:210110
HP:0003330	Abnormal bone structure	9842	PLEKHM1	ORPHA:210110
HP:0003330	Abnormal bone structure	6522	SLC4A2	OMIM:620366
HP:0003330	Abnormal bone structure	50964	SOST	OMIM:122860
HP:0003330	Abnormal bone structure	4507	MTAP	OMIM:112250
HP:0003330	Abnormal bone structure	285590	SH3PXD2B	OMIM:249420
HP:0003330	Abnormal bone structure	23516	SLC39A14	OMIM:144755
HP:0003330	Abnormal bone structure	5573	PRKAR1A	OMIM:101800
HP:0003330	Abnormal bone structure	1718	DHCR24	OMIM:602398
HP:0003330	Abnormal bone structure	5251	PHEX	ORPHA:89936
HP:0003330	Abnormal bone structure	5191	PEX7	OMIM:215100
HP:0003330	Abnormal bone structure	1277	COL1A1	OMIM:259420
HP:0003330	Abnormal bone structure	1278	COL1A2	OMIM:259420
HP:0003330	Abnormal bone structure	3756	KCNH1	ORPHA:420561
HP:0003330	Abnormal bone structure	2719	GPC3	OMIM:312870
HP:0003330	Abnormal bone structure	2239	GPC4	OMIM:312870
HP:0003330	Abnormal bone structure	5888	RAD51	OMIM:617244
HP:0003330	Abnormal bone structure	1146	CHRNG	OMIM:265000
HP:0003330	Abnormal bone structure	3835	KIF22	OMIM:603546
HP:0003330	Abnormal bone structure	9469	CHST3	OMIM:143095
HP:0003330	Abnormal bone structure	65992	DDRGK1	ORPHA:93352
HP:0003330	Abnormal bone structure	2184	FAH	ORPHA:882
HP:0003330	Abnormal bone structure	1758	DMP1	ORPHA:289176
HP:0003330	Abnormal bone structure	5167	ENPP1	ORPHA:289176
HP:0003330	Abnormal bone structure	51119	SBDS	OMIM:260400
HP:0003330	Abnormal bone structure	134218	DNAJC21	OMIM:260400
HP:0003330	Abnormal bone structure	6729	SRP54	OMIM:260400
HP:0003330	Abnormal bone structure	168667	BMPER	OMIM:608022
HP:0003330	Abnormal bone structure	10682	EBP	ORPHA:35173
HP:0003330	Abnormal bone structure	9896	FIG4	OMIM:216340
HP:0003330	Abnormal bone structure	9896	FIG4	ORPHA:3472
HP:0003330	Abnormal bone structure	6662	SOX9	OMIM:114290
HP:0003330	Abnormal bone structure	55697	VAC14	ORPHA:3472
HP:0003330	Abnormal bone structure	23594	ORC6	OMIM:613803
HP:0003330	Abnormal bone structure	4998	ORC1	OMIM:224690
HP:0003330	Abnormal bone structure	1300	COL10A1	ORPHA:174
HP:0003330	Abnormal bone structure	4784	NFIX	OMIM:602535
HP:0003330	Abnormal bone structure	10225	CD96	OMIM:211750
HP:0003330	Abnormal bone structure	4256	MGP	OMIM:245150
HP:0003330	Abnormal bone structure	3209	HOXA13	OMIM:140000
HP:0003330	Abnormal bone structure	3636	INPPL1	ORPHA:3144
HP:0003330	Abnormal bone structure	9451	EIF2AK3	OMIM:226980
HP:0003330	Abnormal bone structure	145258	GSC	OMIM:602471
HP:0003330	Abnormal bone structure	10804	GJB6	ORPHA:477
HP:0003330	Abnormal bone structure	79848	CSPP1	ORPHA:397715
HP:0003330	Abnormal bone structure	9786	KIAA0586	ORPHA:397715
HP:0003330	Abnormal bone structure	8022	LHX3	ORPHA:226307
HP:0003330	Abnormal bone structure	405753	DUOXA2	ORPHA:95716
HP:0003330	Abnormal bone structure	6528	SLC5A5	ORPHA:95716
HP:0003330	Abnormal bone structure	7038	TG	ORPHA:95716
HP:0003330	Abnormal bone structure	7173	TPO	ORPHA:95716
HP:0003330	Abnormal bone structure	389434	IYD	ORPHA:95716
HP:0003330	Abnormal bone structure	50506	DUOX2	ORPHA:95716
HP:0003330	Abnormal bone structure	100151683	RNU4ATAC	ORPHA:353298
HP:0003330	Abnormal bone structure	4148	MATN3	ORPHA:93311
HP:0003330	Abnormal bone structure	7253	TSHR	ORPHA:90673
HP:0003330	Abnormal bone structure	7252	TSHB	ORPHA:90674
HP:0003330	Abnormal bone structure	126792	B3GALT6	OMIM:271640
HP:0003330	Abnormal bone structure	1311	COMP	ORPHA:750
HP:0003330	Abnormal bone structure	368	ABCC6	ORPHA:51608
HP:0003330	Abnormal bone structure	8200	GDF5	ORPHA:93384
HP:0003330	Abnormal bone structure	658	BMPR1B	ORPHA:93384
HP:0003330	Abnormal bone structure	64135	IFIH1	OMIM:182250
HP:0003330	Abnormal bone structure	23586	RIGI	OMIM:616298
HP:0003330	Abnormal bone structure	25923	ATL3	OMIM:615632
HP:0003330	Abnormal bone structure	427	ASAH1	OMIM:228000
HP:0003330	Abnormal bone structure	1513	CTSK	ORPHA:763
HP:0003330	Abnormal bone structure	1513	CTSK	OMIM:265800
HP:0003330	Abnormal bone structure	1161	ERCC8	OMIM:216400
HP:0003330	Abnormal bone structure	10847	SRCAP	OMIM:136140
HP:0003330	Abnormal bone structure	4921	DDR2	OMIM:271665
HP:0003330	Abnormal bone structure	2677	GGCX	OMIM:277450
HP:0003330	Abnormal bone structure	5190	PEX6	OMIM:614862
HP:0003330	Abnormal bone structure	5190	PEX6	ORPHA:912
HP:0003330	Abnormal bone structure	8504	PEX3	OMIM:614882
HP:0003330	Abnormal bone structure	8504	PEX3	ORPHA:912
HP:0003330	Abnormal bone structure	5828	PEX2	OMIM:614866
HP:0003330	Abnormal bone structure	5828	PEX2	ORPHA:912
HP:0003330	Abnormal bone structure	7068	THRB	OMIM:274300
HP:0003330	Abnormal bone structure	4758	NEU1	OMIM:256550
HP:0003330	Abnormal bone structure	2990	GUSB	ORPHA:584
HP:0003330	Abnormal bone structure	1717	DHCR7	OMIM:270400
HP:0003330	Abnormal bone structure	8540	AGPS	OMIM:600121
HP:0003330	Abnormal bone structure	8443	GNPAT	OMIM:222765
HP:0003330	Abnormal bone structure	5189	PEX1	OMIM:601539
HP:0003330	Abnormal bone structure	5189	PEX1	ORPHA:912
HP:0003330	Abnormal bone structure	5189	PEX1	OMIM:214100
HP:0003330	Abnormal bone structure	5192	PEX10	OMIM:614870
HP:0003330	Abnormal bone structure	5192	PEX10	ORPHA:912
HP:0003330	Abnormal bone structure	55670	PEX26	OMIM:614872
HP:0003330	Abnormal bone structure	55670	PEX26	ORPHA:912
HP:0003330	Abnormal bone structure	9409	PEX16	OMIM:614876
HP:0003330	Abnormal bone structure	9409	PEX16	ORPHA:912
HP:0003330	Abnormal bone structure	5193	PEX12	OMIM:614859
HP:0003330	Abnormal bone structure	5193	PEX12	ORPHA:912
HP:0003330	Abnormal bone structure	8799	PEX11B	ORPHA:912
HP:0003330	Abnormal bone structure	5830	PEX5	ORPHA:912
HP:0003330	Abnormal bone structure	5194	PEX13	ORPHA:912
HP:0003330	Abnormal bone structure	5195	PEX14	ORPHA:912
HP:0003330	Abnormal bone structure	6399	TRAPPC2	ORPHA:93284
HP:0003330	Abnormal bone structure	8091	HMGA2	ORPHA:94063
HP:0003330	Abnormal bone structure	189	AGXT	OMIM:259900
HP:0003330	Abnormal bone structure	1747	DLX3	OMIM:190320
HP:0003330	Abnormal bone structure	1747	DLX3	ORPHA:3352
HP:0003330	Abnormal bone structure	56975	FAM20C	OMIM:259775
HP:0003330	Abnormal bone structure	9663	LPIN2	ORPHA:77297
HP:0003330	Abnormal bone structure	4160	MC4R	OMIM:618406
HP:0003330	Abnormal bone structure	83706	FERMT3	OMIM:612840
HP:0003330	Abnormal bone structure	4286	MITF	OMIM:617306
HP:0003330	Abnormal bone structure	92344	GORAB	ORPHA:2078
HP:0003330	Abnormal bone structure	5831	PYCR1	ORPHA:2078
HP:0003330	Abnormal bone structure	79087	ALG12	ORPHA:79324
HP:0003330	Abnormal bone structure	53834	FGFRL1	OMIM:194190
HP:0003330	Abnormal bone structure	1487	CTBP1	OMIM:194190
HP:0003330	Abnormal bone structure	3954	LETM1	OMIM:194190
HP:0003330	Abnormal bone structure	7468	NSD2	OMIM:194190
HP:0003330	Abnormal bone structure	10815	CPLX1	OMIM:194190
HP:0003330	Abnormal bone structure	4907	NT5E	OMIM:211800
HP:0003330	Abnormal bone structure	90	ACVR1	OMIM:135100
HP:0003330	Abnormal bone structure	90	ACVR1	ORPHA:337
HP:0003330	Abnormal bone structure	54209	TREM2	OMIM:618193
HP:0003330	Abnormal bone structure	54209	TREM2	ORPHA:2770
HP:0003330	Abnormal bone structure	10483	SEC23B	ORPHA:201
HP:0003330	Abnormal bone structure	5728	PTEN	ORPHA:201
HP:0003330	Abnormal bone structure	6390	SDHB	ORPHA:201
HP:0003330	Abnormal bone structure	6392	SDHD	ORPHA:201
HP:0003330	Abnormal bone structure	6391	SDHC	ORPHA:201
HP:0003330	Abnormal bone structure	207	AKT1	ORPHA:201
HP:0003330	Abnormal bone structure	205717	USF3	ORPHA:201
HP:0003330	Abnormal bone structure	5290	PIK3CA	ORPHA:201
HP:0003330	Abnormal bone structure	100144748	KLLN	ORPHA:201
HP:0003330	Abnormal bone structure	6452	SH3BP2	ORPHA:184
HP:0003330	Abnormal bone structure	7421	VDR	ORPHA:93160
HP:0003330	Abnormal bone structure	3123	HLA-DRB1	OMIM:181000
HP:0003330	Abnormal bone structure	3123	HLA-DRB1	ORPHA:797
HP:0003330	Abnormal bone structure	4854	NOTCH3	ORPHA:2591
HP:0003330	Abnormal bone structure	5159	PDGFRB	ORPHA:2591
HP:0003330	Abnormal bone structure	26137	ZBTB20	ORPHA:3042
HP:0003330	Abnormal bone structure	4763	NF1	ORPHA:363700
HP:0003330	Abnormal bone structure	7305	TYROBP	OMIM:221770
HP:0003330	Abnormal bone structure	7305	TYROBP	ORPHA:2770
HP:0003330	Abnormal bone structure	10216	PRG4	ORPHA:2848
HP:0003330	Abnormal bone structure	2260	FGFR1	ORPHA:2396
HP:0003330	Abnormal bone structure	3845	KRAS	ORPHA:2396
HP:0003330	Abnormal bone structure	5468	PPARG	ORPHA:528
HP:0003330	Abnormal bone structure	10555	AGPAT2	ORPHA:528
HP:0003330	Abnormal bone structure	284119	CAVIN1	ORPHA:528
HP:0003330	Abnormal bone structure	26580	BSCL2	ORPHA:528
HP:0003330	Abnormal bone structure	2353	FOS	ORPHA:528
HP:0003330	Abnormal bone structure	857	CAV1	ORPHA:528
HP:0003330	Abnormal bone structure	56244	BTNL2	ORPHA:797
HP:0003330	Abnormal bone structure	2778	GNAS	ORPHA:562
HP:0003330	Abnormal bone structure	567	B2M	ORPHA:314652
HP:0003330	Abnormal bone structure	2263	FGFR2	ORPHA:313855
HP:0003330	Abnormal bone structure	8600	TNFSF11	OMIM:259710
HP:0003330	Abnormal bone structure	579	NKX3-2	OMIM:613330
HP:0003330	Abnormal bone structure	2591	GALNT3	OMIM:211900
HP:0003330	Abnormal bone structure	55603	TENT5A	OMIM:617952
HP:0003330	Abnormal bone structure	5654	HTRA1	ORPHA:199354
HP:0003330	Abnormal bone structure	6023	RMRP	ORPHA:175
HP:0003330	Abnormal bone structure	1302	COL11A2	ORPHA:1427
HP:0003330	Abnormal bone structure	7473	WNT3	ORPHA:3301
HP:0003330	Abnormal bone structure	340419	RSPO2	ORPHA:3301
HP:0003330	Abnormal bone structure	3339	HSPG2	ORPHA:800
HP:0003330	Abnormal bone structure	5331	PLCB3	OMIM:618961
HP:0003330	Abnormal bone structure	64840	PORCN	ORPHA:2092
HP:0003330	Abnormal bone structure	80169	CTC1	ORPHA:1775
HP:0003330	Abnormal bone structure	26277	TINF2	ORPHA:1775
HP:0003330	Abnormal bone structure	55651	NHP2	ORPHA:1775
HP:0003330	Abnormal bone structure	79650	USB1	ORPHA:1775
HP:0003330	Abnormal bone structure	55135	WRAP53	ORPHA:1775
HP:0003330	Abnormal bone structure	51750	RTEL1	ORPHA:1775
HP:0003330	Abnormal bone structure	4869	NPM1	ORPHA:1775
HP:0003330	Abnormal bone structure	7012	TERC	ORPHA:1775
HP:0003330	Abnormal bone structure	55505	NOP10	ORPHA:1775
HP:0003330	Abnormal bone structure	5073	PARN	ORPHA:1775
HP:0003330	Abnormal bone structure	7015	TERT	ORPHA:1775
HP:0003330	Abnormal bone structure	1736	DKC1	ORPHA:1775
HP:0003330	Abnormal bone structure	7298	TYMS	ORPHA:1775
HP:0003330	Abnormal bone structure	4982	TNFRSF11B	ORPHA:2801
HP:0003330	Abnormal bone structure	9401	RECQL4	ORPHA:221016
HP:0003330	Abnormal bone structure	64682	ANAPC1	ORPHA:221008
HP:0003330	Abnormal bone structure	2317	FLNB	ORPHA:1263
HP:0003330	Abnormal bone structure	57020	VPS35L	OMIM:619135
HP:0003330	Abnormal bone structure	55768	NGLY1	ORPHA:404454
HP:0003330	Abnormal bone structure	4041	LRP5	ORPHA:2790
HP:0003330	Abnormal bone structure	4041	LRP5	OMIM:144750
HP:0003330	Abnormal bone structure	79705	LRRK1	OMIM:615198
HP:0003330	Abnormal bone structure	23592	LEMD3	ORPHA:166119
HP:0003336	Abnormal enchondral ossification	9361	LONP1	OMIM:600373
HP:0003336	Abnormal enchondral ossification	8720	MBTPS1	OMIM:618392
HP:0003336	Abnormal enchondral ossification	3549	IHH	OMIM:607778
HP:0003336	Abnormal enchondral ossification	633	BGN	OMIM:300106
HP:0003336	Abnormal enchondral ossification	23233	EXOC6B	OMIM:618395
HP:0003336	Abnormal enchondral ossification	2137	EXTL3	OMIM:617425
HP:0003336	Abnormal enchondral ossification	6023	RMRP	OMIM:607095
HP:0003336	Abnormal enchondral ossification	3209	HOXA13	OMIM:140000
HP:0003336	Abnormal enchondral ossification	865	CBFB	OMIM:620099
HP:0003336	Abnormal enchondral ossification	4148	MATN3	OMIM:607078
HP:0003336	Abnormal enchondral ossification	55650	PIGV	OMIM:239300
HP:0003336	Abnormal enchondral ossification	1311	COMP	ORPHA:750
HP:0003336	Abnormal enchondral ossification	1311	COMP	OMIM:177170
HP:0003336	Abnormal enchondral ossification	1311	COMP	OMIM:132400
HP:0003336	Abnormal enchondral ossification	1311	COMP	ORPHA:93308
HP:0003336	Abnormal enchondral ossification	3835	KIF22	ORPHA:93360
HP:0003336	Abnormal enchondral ossification	65992	DDRGK1	OMIM:602557
HP:0003336	Abnormal enchondral ossification	65992	DDRGK1	ORPHA:93352
HP:0003336	Abnormal enchondral ossification	1184	CLCN5	OMIM:300554
HP:0003336	Abnormal enchondral ossification	1184	CLCN5	OMIM:300009
HP:0003336	Abnormal enchondral ossification	142680	SLC34A3	OMIM:241530
HP:0003336	Abnormal enchondral ossification	1594	CYP27B1	ORPHA:289157
HP:0003336	Abnormal enchondral ossification	1594	CYP27B1	OMIM:264700
HP:0003336	Abnormal enchondral ossification	120227	CYP2R1	ORPHA:289157
HP:0003336	Abnormal enchondral ossification	120227	CYP2R1	OMIM:600081
HP:0003336	Abnormal enchondral ossification	55699	IARS2	OMIM:616007
HP:0003336	Abnormal enchondral ossification	100151683	RNU4ATAC	OMIM:210710
HP:0003336	Abnormal enchondral ossification	23761	PISD	OMIM:618889
HP:0003336	Abnormal enchondral ossification	4796	TONSL	ORPHA:93357
HP:0003336	Abnormal enchondral ossification	59341	TRPV4	ORPHA:93314
HP:0003336	Abnormal enchondral ossification	5745	PTH1R	ORPHA:79106
HP:0003336	Abnormal enchondral ossification	5745	PTH1R	OMIM:600002
HP:0003336	Abnormal enchondral ossification	1280	COL2A1	ORPHA:485
HP:0003336	Abnormal enchondral ossification	1280	COL2A1	OMIM:156550
HP:0003336	Abnormal enchondral ossification	2099	ESR1	ORPHA:785
HP:0003336	Abnormal enchondral ossification	1299	COL9A3	OMIM:600969
HP:0003336	Abnormal enchondral ossification	51025	PAM16	OMIM:613320
HP:0003336	Abnormal enchondral ossification	7421	VDR	OMIM:277440
HP:0003336	Abnormal enchondral ossification	406932	MIR140	OMIM:618618
HP:0003336	Abnormal enchondral ossification	6662	SOX9	OMIM:114290
HP:0003336	Abnormal enchondral ossification	2263	FGFR2	OMIM:101200
HP:0003336	Abnormal enchondral ossification	1588	CYP19A1	ORPHA:91
HP:0003336	Abnormal enchondral ossification	374654	KIF7	ORPHA:166024
HP:0003336	Abnormal enchondral ossification	2879	GPX4	OMIM:250220
HP:0003336	Abnormal enchondral ossification	1836	SLC26A2	ORPHA:93298
HP:0003336	Abnormal enchondral ossification	2317	FLNB	ORPHA:56305
HP:0003336	Abnormal enchondral ossification	84068	SLC10A7	OMIM:618363
HP:0003336	Abnormal enchondral ossification	29072	SETD2	OMIM:616831
HP:0003336	Abnormal enchondral ossification	54187	NANS	OMIM:610442
HP:0003336	Abnormal enchondral ossification	64131	XYLT1	OMIM:615777
HP:0003336	Abnormal enchondral ossification	347734	SLC35B2	OMIM:620269
HP:0003336	Abnormal enchondral ossification	10568	SLC34A2	ORPHA:60025
HP:0003336	Abnormal enchondral ossification	5727	PTCH1	OMIM:109400
HP:0003336	Abnormal enchondral ossification	3955	LFNG	OMIM:609813
HP:0003336	Abnormal enchondral ossification	249	ALPL	OMIM:241500
HP:0003336	Abnormal enchondral ossification	6628	SNRPB	OMIM:117650
HP:0003336	Abnormal enchondral ossification	3756	KCNH1	ORPHA:420561
HP:0003336	Abnormal enchondral ossification	9469	CHST3	OMIM:143095
HP:0003336	Abnormal enchondral ossification	2719	GPC3	OMIM:312870
HP:0003336	Abnormal enchondral ossification	2239	GPC4	OMIM:312870
HP:0003336	Abnormal enchondral ossification	54808	DYM	OMIM:223800
HP:0003336	Abnormal enchondral ossification	51119	SBDS	OMIM:260400
HP:0003336	Abnormal enchondral ossification	134218	DNAJC21	OMIM:260400
HP:0003336	Abnormal enchondral ossification	6729	SRP54	OMIM:260400
HP:0003336	Abnormal enchondral ossification	168667	BMPER	OMIM:608022
HP:0003336	Abnormal enchondral ossification	9896	FIG4	OMIM:216340
HP:0003336	Abnormal enchondral ossification	9896	FIG4	ORPHA:3472
HP:0003336	Abnormal enchondral ossification	55697	VAC14	ORPHA:3472
HP:0003336	Abnormal enchondral ossification	23594	ORC6	OMIM:613803
HP:0003336	Abnormal enchondral ossification	4998	ORC1	OMIM:224690
HP:0003336	Abnormal enchondral ossification	1300	COL10A1	ORPHA:174
HP:0003336	Abnormal enchondral ossification	4784	NFIX	OMIM:602535
HP:0003336	Abnormal enchondral ossification	10225	CD96	OMIM:211750
HP:0003336	Abnormal enchondral ossification	23169	SLC35D1	OMIM:269250
HP:0003336	Abnormal enchondral ossification	23169	SLC35D1	ORPHA:3144
HP:0003336	Abnormal enchondral ossification	3636	INPPL1	ORPHA:3144
HP:0003336	Abnormal enchondral ossification	124583	CANT1	OMIM:251450
HP:0003336	Abnormal enchondral ossification	10682	EBP	OMIM:302960
HP:0003336	Abnormal enchondral ossification	9451	EIF2AK3	OMIM:226980
HP:0003336	Abnormal enchondral ossification	145258	GSC	OMIM:602471
HP:0003336	Abnormal enchondral ossification	10804	GJB6	ORPHA:477
HP:0003336	Abnormal enchondral ossification	2706	GJB2	ORPHA:477
HP:0003336	Abnormal enchondral ossification	23387	SIK3	OMIM:618162
HP:0003336	Abnormal enchondral ossification	860	RUNX2	OMIM:119600
HP:0003336	Abnormal enchondral ossification	79848	CSPP1	ORPHA:397715
HP:0003336	Abnormal enchondral ossification	9786	KIAA0586	ORPHA:397715
HP:0003336	Abnormal enchondral ossification	5626	PROP1	ORPHA:226307
HP:0003336	Abnormal enchondral ossification	89884	LHX4	ORPHA:226307
HP:0003336	Abnormal enchondral ossification	8022	LHX3	ORPHA:226307
HP:0003336	Abnormal enchondral ossification	5449	POU1F1	ORPHA:226307
HP:0003336	Abnormal enchondral ossification	8820	HESX1	ORPHA:226307
HP:0003336	Abnormal enchondral ossification	405753	DUOXA2	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	6528	SLC5A5	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	7038	TG	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	7173	TPO	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	389434	IYD	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	50506	DUOX2	ORPHA:95716
HP:0003336	Abnormal enchondral ossification	7253	TSHR	ORPHA:90673
HP:0003336	Abnormal enchondral ossification	7252	TSHB	ORPHA:90674
HP:0003336	Abnormal enchondral ossification	126792	B3GALT6	OMIM:271640
HP:0003336	Abnormal enchondral ossification	23592	LEMD3	ORPHA:166119
HP:0003336	Abnormal enchondral ossification	55112	DYNC2I1	ORPHA:93271
HP:0003336	Abnormal enchondral ossification	57560	IFT80	ORPHA:93271
HP:0003336	Abnormal enchondral ossification	57539	WDR35	ORPHA:93271
HP:0003336	Abnormal enchondral ossification	79659	DYNC2H1	ORPHA:93271
HP:0003336	Abnormal enchondral ossification	89891	DYNC2I2	ORPHA:93271
HP:0003336	Abnormal enchondral ossification	3930	LBR	ORPHA:1426
HP:0003336	Abnormal enchondral ossification	55325	UFSP2	ORPHA:2114
HP:0003336	Abnormal enchondral ossification	4921	DDR2	OMIM:271665
HP:0003336	Abnormal enchondral ossification	5167	ENPP1	ORPHA:51608
HP:0003336	Abnormal enchondral ossification	368	ABCC6	ORPHA:51608
HP:0003336	Abnormal enchondral ossification	8200	GDF5	ORPHA:93384
HP:0003336	Abnormal enchondral ossification	658	BMPR1B	ORPHA:93384
HP:0003336	Abnormal enchondral ossification	415	ARSL	ORPHA:79345
HP:0003336	Abnormal enchondral ossification	5573	PRKAR1A	ORPHA:950
HP:0003336	Abnormal enchondral ossification	5573	PRKAR1A	OMIM:101800
HP:0003336	Abnormal enchondral ossification	5144	PDE4D	ORPHA:950
HP:0003336	Abnormal enchondral ossification	57020	VPS35L	OMIM:619135
HP:0003336	Abnormal enchondral ossification	4256	MGP	OMIM:245150
HP:0003336	Abnormal enchondral ossification	2677	GGCX	OMIM:277450
HP:0003336	Abnormal enchondral ossification	5190	PEX6	OMIM:614862
HP:0003336	Abnormal enchondral ossification	5190	PEX6	ORPHA:912
HP:0003336	Abnormal enchondral ossification	50814	NSDHL	OMIM:308050
HP:0003336	Abnormal enchondral ossification	8504	PEX3	OMIM:614882
HP:0003336	Abnormal enchondral ossification	8504	PEX3	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5828	PEX2	OMIM:614866
HP:0003336	Abnormal enchondral ossification	5828	PEX2	ORPHA:912
HP:0003336	Abnormal enchondral ossification	7068	THRB	OMIM:274300
HP:0003336	Abnormal enchondral ossification	4758	NEU1	OMIM:256550
HP:0003336	Abnormal enchondral ossification	5191	PEX7	OMIM:215100
HP:0003336	Abnormal enchondral ossification	2990	GUSB	ORPHA:584
HP:0003336	Abnormal enchondral ossification	1717	DHCR7	OMIM:270400
HP:0003336	Abnormal enchondral ossification	8540	AGPS	OMIM:600121
HP:0003336	Abnormal enchondral ossification	8443	GNPAT	OMIM:222765
HP:0003336	Abnormal enchondral ossification	5189	PEX1	OMIM:601539
HP:0003336	Abnormal enchondral ossification	5189	PEX1	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5189	PEX1	OMIM:214100
HP:0003336	Abnormal enchondral ossification	5192	PEX10	OMIM:614870
HP:0003336	Abnormal enchondral ossification	5192	PEX10	ORPHA:912
HP:0003336	Abnormal enchondral ossification	55670	PEX26	OMIM:614872
HP:0003336	Abnormal enchondral ossification	55670	PEX26	ORPHA:912
HP:0003336	Abnormal enchondral ossification	9409	PEX16	OMIM:614876
HP:0003336	Abnormal enchondral ossification	9409	PEX16	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5193	PEX12	OMIM:614859
HP:0003336	Abnormal enchondral ossification	5193	PEX12	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5824	PEX19	ORPHA:912
HP:0003336	Abnormal enchondral ossification	8799	PEX11B	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5830	PEX5	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5194	PEX13	ORPHA:912
HP:0003336	Abnormal enchondral ossification	5195	PEX14	ORPHA:912
HP:0003336	Abnormal enchondral ossification	388015	RTL1	ORPHA:96334
HP:0003336	Abnormal enchondral ossification	8788	DLK1	ORPHA:96334
HP:0003336	Abnormal enchondral ossification	55384	MEG3	ORPHA:96334
HP:0003336	Abnormal enchondral ossification	6399	TRAPPC2	ORPHA:93284
HP:0003336	Abnormal enchondral ossification	9321	TRIP11	OMIM:200600
HP:0003336	Abnormal enchondral ossification	2316	FLNA	OMIM:300244
HP:0003336	Abnormal enchondral ossification	53834	FGFRL1	OMIM:194190
HP:0003336	Abnormal enchondral ossification	1487	CTBP1	OMIM:194190
HP:0003336	Abnormal enchondral ossification	3954	LETM1	OMIM:194190
HP:0003336	Abnormal enchondral ossification	7468	NSD2	OMIM:194190
HP:0003336	Abnormal enchondral ossification	10815	CPLX1	OMIM:194190
HP:0003336	Abnormal enchondral ossification	579	NKX3-2	OMIM:613330
HP:0003336	Abnormal enchondral ossification	1302	COL11A2	ORPHA:1427
HP:0003336	Abnormal enchondral ossification	7473	WNT3	ORPHA:3301
HP:0003336	Abnormal enchondral ossification	340419	RSPO2	ORPHA:3301
HP:0003336	Abnormal enchondral ossification	3339	HSPG2	ORPHA:800
HP:0003332	Absent primary metaphyseal spongiosa	59341	TRPV4	OMIM:156530
HP:0003333	Increased serum beta-hexosaminidase	84572	GNPTG	OMIM:252605
HP:0003333	Increased serum beta-hexosaminidase	79158	GNPTAB	OMIM:252600
HP:0003333	Increased serum beta-hexosaminidase	79158	GNPTAB	OMIM:252500
HP:0003334	Elevated circulating catecholamine level	7428	VHL	ORPHA:892
HP:0003334	Elevated circulating catecholamine level	595	CCND1	ORPHA:892
HP:0003334	Elevated circulating catecholamine level	6392	SDHD	OMIM:168000
HP:0003334	Elevated circulating catecholamine level	8402	SLC25A11	OMIM:618464
HP:0003334	Elevated circulating catecholamine level	6391	SDHC	OMIM:605373
HP:0000044	Hypogonadotropic hypogonadism	2260	FGFR1	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	2260	FGFR1	OMIM:147950
HP:0000044	Hypogonadotropic hypogonadism	2260	FGFR1	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	81848	SPRY4	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	81848	SPRY4	OMIM:615266
HP:0000044	Hypogonadotropic hypogonadism	81848	SPRY4	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	81848	SPRY4	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	128674	PROKR2	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	128674	PROKR2	OMIM:244200
HP:0000044	Hypogonadotropic hypogonadism	128674	PROKR2	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	2253	FGF8	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	2253	FGF8	OMIM:612702
HP:0000044	Hypogonadotropic hypogonadism	2253	FGF8	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	60675	PROK2	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	60675	PROK2	OMIM:610628
HP:0000044	Hypogonadotropic hypogonadism	60675	PROK2	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	55636	CHD7	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	55636	CHD7	OMIM:612370
HP:0000044	Hypogonadotropic hypogonadism	55636	CHD7	ORPHA:138
HP:0000044	Hypogonadotropic hypogonadism	55636	CHD7	OMIM:214800
HP:0000044	Hypogonadotropic hypogonadism	55636	CHD7	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	6870	TACR3	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	6870	TACR3	OMIM:614840
HP:0000044	Hypogonadotropic hypogonadism	6870	TACR3	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	1848	DUSP6	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	1848	DUSP6	OMIM:615269
HP:0000044	Hypogonadotropic hypogonadism	1848	DUSP6	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	1848	DUSP6	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	26012	NSMF	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	26012	NSMF	OMIM:614838
HP:0000044	Hypogonadotropic hypogonadism	55717	WDR11	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	55717	WDR11	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	55717	WDR11	OMIM:614858
HP:0000044	Hypogonadotropic hypogonadism	55717	WDR11	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	9394	HS6ST1	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	9394	HS6ST1	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	2796	GNRH1	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	2796	GNRH1	OMIM:614841
HP:0000044	Hypogonadotropic hypogonadism	2796	GNRH1	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	2798	GNRHR	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	2798	GNRHR	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	84634	KISS1R	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	84634	KISS1R	OMIM:614837
HP:0000044	Hypogonadotropic hypogonadism	6866	TAC3	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	6866	TAC3	OMIM:614839
HP:0000044	Hypogonadotropic hypogonadism	8822	FGF17	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	8822	FGF17	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	8822	FGF17	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	3814	KISS1	ORPHA:432
HP:0000044	Hypogonadotropic hypogonadism	3814	KISS1	OMIM:614842
HP:0000044	Hypogonadotropic hypogonadism	5888	RAD51	ORPHA:238722
HP:0000044	Hypogonadotropic hypogonadism	10126	DNAL4	ORPHA:238722
HP:0000044	Hypogonadotropic hypogonadism	9423	NTN1	ORPHA:238722
HP:0000044	Hypogonadotropic hypogonadism	1630	DCC	ORPHA:238722
HP:0000044	Hypogonadotropic hypogonadism	1630	DCC	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	4558	MT-TF	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4572	MT-TQ	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4512	MT-CO1	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4513	MT-CO2	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4514	MT-CO3	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4578	MT-TW	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4540	MT-ND5	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4541	MT-ND6	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4535	MT-ND1	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4538	MT-ND4	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4567	MT-TL1	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4574	MT-TS1	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4575	MT-TS2	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	4564	MT-TH	ORPHA:550
HP:0000044	Hypogonadotropic hypogonadism	55703	POLR3B	OMIM:614381
HP:0000044	Hypogonadotropic hypogonadism	55703	POLR3B	OMIM:607694
HP:0000044	Hypogonadotropic hypogonadism	51728	POLR3K	OMIM:619310
HP:0000044	Hypogonadotropic hypogonadism	6938	TCF12	OMIM:619718
HP:0000044	Hypogonadotropic hypogonadism	100151683	RNU4ATAC	ORPHA:353298
HP:0000044	Hypogonadotropic hypogonadism	148738	HJV	OMIM:602390
HP:0000044	Hypogonadotropic hypogonadism	8626	TP63	OMIM:604292
HP:0000044	Hypogonadotropic hypogonadism	7681	MKRN3	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	3653	IPW	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	54551	MAGEL2	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	54551	MAGEL2	ORPHA:177904
HP:0000044	Hypogonadotropic hypogonadism	54551	MAGEL2	ORPHA:177901
HP:0000044	Hypogonadotropic hypogonadism	54551	MAGEL2	ORPHA:177910
HP:0000044	Hypogonadotropic hypogonadism	54551	MAGEL2	ORPHA:98754
HP:0000044	Hypogonadotropic hypogonadism	791114	PWRN1	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	100033413	SNORD116-1	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	8924	HERC2	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	145624	PWAR1	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	23742	NPAP1	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	338433	SNORD115-1	OMIM:176270
HP:0000044	Hypogonadotropic hypogonadism	9150	CTDP1	OMIM:604168
HP:0000044	Hypogonadotropic hypogonadism	9150	CTDP1	ORPHA:48431
HP:0000044	Hypogonadotropic hypogonadism	2488	FSHB	ORPHA:52901
HP:0000044	Hypogonadotropic hypogonadism	4221	MEN1	ORPHA:2965
HP:0000044	Hypogonadotropic hypogonadism	64072	CDH23	ORPHA:2965
HP:0000044	Hypogonadotropic hypogonadism	64072	CDH23	ORPHA:91347
HP:0000044	Hypogonadotropic hypogonadism	9049	AIP	ORPHA:2965
HP:0000044	Hypogonadotropic hypogonadism	9049	AIP	ORPHA:963
HP:0000044	Hypogonadotropic hypogonadism	6492	SIM1	ORPHA:398079
HP:0000044	Hypogonadotropic hypogonadism	1363	CPE	OMIM:619326
HP:0000044	Hypogonadotropic hypogonadism	54476	RNF216	OMIM:212840
HP:0000044	Hypogonadotropic hypogonadism	54476	RNF216	ORPHA:1173
HP:0000044	Hypogonadotropic hypogonadism	25782	RAB3GAP2	OMIM:212720
HP:0000044	Hypogonadotropic hypogonadism	25782	RAB3GAP2	ORPHA:1387
HP:0000044	Hypogonadotropic hypogonadism	10908	PNPLA6	OMIM:275400
HP:0000044	Hypogonadotropic hypogonadism	10908	PNPLA6	ORPHA:1180
HP:0000044	Hypogonadotropic hypogonadism	10908	PNPLA6	ORPHA:1173
HP:0000044	Hypogonadotropic hypogonadism	10908	PNPLA6	OMIM:215470
HP:0000044	Hypogonadotropic hypogonadism	9723	SEMA3E	ORPHA:138
HP:0000044	Hypogonadotropic hypogonadism	9723	SEMA3E	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	5428	POLG	ORPHA:298
HP:0000044	Hypogonadotropic hypogonadism	1890	TYMP	ORPHA:298
HP:0000044	Hypogonadotropic hypogonadism	3980	LIG3	ORPHA:298
HP:0000044	Hypogonadotropic hypogonadism	50484	RRM2B	ORPHA:298
HP:0000044	Hypogonadotropic hypogonadism	5980	REV3L	ORPHA:570
HP:0000044	Hypogonadotropic hypogonadism	23129	PLXND1	ORPHA:570
HP:0000044	Hypogonadotropic hypogonadism	6638	SNRPN	ORPHA:177904
HP:0000044	Hypogonadotropic hypogonadism	6638	SNRPN	ORPHA:177901
HP:0000044	Hypogonadotropic hypogonadism	6638	SNRPN	ORPHA:177910
HP:0000044	Hypogonadotropic hypogonadism	6638	SNRPN	ORPHA:177907
HP:0000044	Hypogonadotropic hypogonadism	6638	SNRPN	ORPHA:98754
HP:0000044	Hypogonadotropic hypogonadism	4692	NDN	ORPHA:177904
HP:0000044	Hypogonadotropic hypogonadism	4692	NDN	ORPHA:177901
HP:0000044	Hypogonadotropic hypogonadism	4692	NDN	ORPHA:177910
HP:0000044	Hypogonadotropic hypogonadism	4692	NDN	ORPHA:98754
HP:0000044	Hypogonadotropic hypogonadism	4948	OCA2	ORPHA:177904
HP:0000044	Hypogonadotropic hypogonadism	4948	OCA2	ORPHA:177901
HP:0000044	Hypogonadotropic hypogonadism	4948	OCA2	ORPHA:98754
HP:0000044	Hypogonadotropic hypogonadism	1108	CHD4	OMIM:617159
HP:0000044	Hypogonadotropic hypogonadism	55366	LGR4	OMIM:619613
HP:0000044	Hypogonadotropic hypogonadism	83550	GPR101	ORPHA:963
HP:0000044	Hypogonadotropic hypogonadism	5422	POLA1	OMIM:301030
HP:0000044	Hypogonadotropic hypogonadism	23347	SMCHD1	OMIM:603457
HP:0000044	Hypogonadotropic hypogonadism	23312	DMXL2	OMIM:616113
HP:0000044	Hypogonadotropic hypogonadism	23312	DMXL2	ORPHA:453533
HP:0000044	Hypogonadotropic hypogonadism	558	AXL	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	10011	SRA1	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	285025	CCDC141	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	285025	CCDC141	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	389549	FEZF1	OMIM:146110
HP:0000044	Hypogonadotropic hypogonadism	389549	FEZF1	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	4990	SIX6	OMIM:206900
HP:0000044	Hypogonadotropic hypogonadism	6657	SOX2	OMIM:206900
HP:0000044	Hypogonadotropic hypogonadism	3077	HFE	OMIM:235200
HP:0000044	Hypogonadotropic hypogonadism	3077	HFE	ORPHA:465508
HP:0000044	Hypogonadotropic hypogonadism	650	BMP2	OMIM:235200
HP:0000044	Hypogonadotropic hypogonadism	1499	CTNNB1	ORPHA:54595
HP:0000044	Hypogonadotropic hypogonadism	673	BRAF	ORPHA:54595
HP:0000044	Hypogonadotropic hypogonadism	3293	HSD17B3	ORPHA:752
HP:0000044	Hypogonadotropic hypogonadism	55131	RBM28	ORPHA:157954
HP:0000044	Hypogonadotropic hypogonadism	55131	RBM28	OMIM:612079
HP:0000044	Hypogonadotropic hypogonadism	5626	PROP1	ORPHA:226307
HP:0000044	Hypogonadotropic hypogonadism	5626	PROP1	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	5626	PROP1	ORPHA:90695
HP:0000044	Hypogonadotropic hypogonadism	89884	LHX4	ORPHA:226307
HP:0000044	Hypogonadotropic hypogonadism	89884	LHX4	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	8022	LHX3	ORPHA:226307
HP:0000044	Hypogonadotropic hypogonadism	5449	POU1F1	ORPHA:226307
HP:0000044	Hypogonadotropic hypogonadism	5449	POU1F1	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	8820	HESX1	ORPHA:226307
HP:0000044	Hypogonadotropic hypogonadism	8820	HESX1	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	8820	HESX1	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	6804	STX1A	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	7461	CLIP2	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	84277	DNAJC30	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	8468	FKBP6	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	5982	RFC2	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	2969	GTF2I	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	3984	LIMK1	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	9569	GTF2IRD1	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	155382	VPS37D	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	155368	METTL27	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	114049	BUD23	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	7458	EIF4H	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	84163	GTF2IRD2	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	9275	BCL7B	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	26608	TBL2	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	653361	NCF1	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	135886	TMEM270	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	51085	MLXIPL	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	9031	BAZ1B	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	2006	ELN	ORPHA:904
HP:0000044	Hypogonadotropic hypogonadism	8314	BAP1	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	4771	NF2	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	6598	SMARCB1	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	5155	PDGFB	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	84231	TRAF7	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	6608	SMO	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	207	AKT1	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	5290	PIK3CA	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	7015	TERT	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	51684	SUFU	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	51684	SUFU	ORPHA:377
HP:0000044	Hypogonadotropic hypogonadism	6605	SMARCE1	ORPHA:2495
HP:0000044	Hypogonadotropic hypogonadism	286	ANK1	ORPHA:251066
HP:0000044	Hypogonadotropic hypogonadism	7036	TFR2	OMIM:604250
HP:0000044	Hypogonadotropic hypogonadism	11128	POLR3A	ORPHA:447896
HP:0000044	Hypogonadotropic hypogonadism	11128	POLR3A	ORPHA:3455
HP:0000044	Hypogonadotropic hypogonadism	11128	POLR3A	OMIM:607694
HP:0000044	Hypogonadotropic hypogonadism	2736	GLI2	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	3170	FOXA2	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	5015	OTX2	ORPHA:95494
HP:0000044	Hypogonadotropic hypogonadism	190	NR0B1	OMIM:300200
HP:0000044	Hypogonadotropic hypogonadism	190	NR0B1	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	3972	LHB	OMIM:228300
HP:0000044	Hypogonadotropic hypogonadism	59336	PRDM13	OMIM:619761
HP:0000044	Hypogonadotropic hypogonadism	81887	LAS1L	ORPHA:3459
HP:0000044	Hypogonadotropic hypogonadism	55869	HDAC8	ORPHA:3459
HP:0000044	Hypogonadotropic hypogonadism	5373	PMM2	ORPHA:79318
HP:0000044	Hypogonadotropic hypogonadism	5727	PTCH1	ORPHA:377
HP:0000044	Hypogonadotropic hypogonadism	8643	PTCH2	ORPHA:377
HP:0000044	Hypogonadotropic hypogonadism	2706	GJB2	ORPHA:494
HP:0000044	Hypogonadotropic hypogonadism	5122	PCSK1	OMIM:600955
HP:0000044	Hypogonadotropic hypogonadism	22930	RAB3GAP1	ORPHA:1387
HP:0000044	Hypogonadotropic hypogonadism	22930	RAB3GAP1	OMIM:619420
HP:0000044	Hypogonadotropic hypogonadism	654	BMP6	ORPHA:465508
HP:0000044	Hypogonadotropic hypogonadism	22800	RRAS2	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	867	CBL	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	8216	LZTR1	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	6016	RIT1	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	6237	RRAS	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	5894	RAF1	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	22808	MRAS	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	3845	KRAS	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	200734	SPRED2	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	4893	NRAS	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	6654	SOS1	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	6655	SOS2	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	5781	PTPN11	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	5922	RASA2	ORPHA:648
HP:0000044	Hypogonadotropic hypogonadism	3730	ANOS1	OMIM:308700
HP:0000044	Hypogonadotropic hypogonadism	3730	ANOS1	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	1761	DMRT1	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	6662	SOX9	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	84733	CBX2	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	50846	DHH	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	4214	MAP3K1	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	2516	NR5A1	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	7490	WT1	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	57647	DHX37	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	6736	SRY	ORPHA:242
HP:0000044	Hypogonadotropic hypogonadism	80067	DCAF17	OMIM:241080
HP:0000044	Hypogonadotropic hypogonadism	10371	SEMA3A	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	23767	FLRT3	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	79625	NDNF	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	54756	IL17RD	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	6663	SOX10	ORPHA:478
HP:0000044	Hypogonadotropic hypogonadism	6658	SOX3	ORPHA:90695
HP:0003337	Reduced prothrombin consumption	8328	GFI1B	OMIM:187900
HP:0003339	Pyrimidine-responsive megaloblastic anemia	7372	UMPS	OMIM:258900
HP:0033985	Elongated femoral neck	26175	LYSET	OMIM:619345
HP:0033984	Increased urinary 8-oxo-7,8-dihydroguanosine level	1147	CHUK	OMIM:613630
HP:0033986	Tortuous lymphatic vessels	9620	CELSR1	OMIM:619319
HP:0033992	Chronotropic incompetence	2783	GNB2	OMIM:619464
HP:0033993	Viral encephalitis	7098	TLR3	OMIM:613002
HP:0033993	Viral encephalitis	10525	HYOU1	OMIM:233600
HP:0033993	Viral encephalitis	6772	STAT1	OMIM:613796
HP:0033993	Viral encephalitis	6772	STAT1	OMIM:614892
HP:0033993	Viral encephalitis	3661	IRF3	OMIM:616532
HP:0033993	Viral encephalitis	148022	TICAM1	OMIM:614850
HP:0033993	Viral encephalitis	81622	UNC93B1	OMIM:610551
HP:0033993	Viral encephalitis	29110	TBK1	OMIM:617900
HP:0033993	Viral encephalitis	3071	NCKAP1L	OMIM:618982
HP:0033993	Viral encephalitis	7187	TRAF3	OMIM:614849
HP:0033993	Viral encephalitis	677814	SNORA31	OMIM:619396
HP:0033993	Viral encephalitis	939	CD27	OMIM:615122
HP:0033993	Viral encephalitis	51163	DBR1	OMIM:619441
HP:0033993	Viral encephalitis	959	CD40LG	OMIM:308230
HP:0033994	Dependency on parenteral nutrition	6809	STX3	OMIM:619445
HP:0033994	Dependency on parenteral nutrition	54914	FOCAD	OMIM:619991
HP:0003341	Lamina lucida cleavage	3914	LAMB3	OMIM:226700
HP:0003341	Lamina lucida cleavage	3909	LAMA3	OMIM:226700
HP:0003341	Lamina lucida cleavage	3909	LAMA3	OMIM:619784
HP:0003341	Lamina lucida cleavage	3918	LAMC2	OMIM:226700
HP:0003341	Lamina lucida cleavage	3918	LAMC2	OMIM:619785
HP:0003341	Lamina lucida cleavage	3918	LAMC2	OMIM:619786
HP:0003341	Lamina lucida cleavage	5339	PLEC	OMIM:226730
HP:0003341	Lamina lucida cleavage	5339	PLEC	ORPHA:158684
HP:0003341	Lamina lucida cleavage	3691	ITGB4	OMIM:226730
HP:0003341	Lamina lucida cleavage	3691	ITGB4	ORPHA:158684
HP:0003341	Lamina lucida cleavage	3691	ITGB4	OMIM:619816
HP:0003341	Lamina lucida cleavage	1308	COL17A1	OMIM:619787
HP:0003341	Lamina lucida cleavage	1294	COL7A1	ORPHA:89843
HP:0003341	Lamina lucida cleavage	3852	KRT5	ORPHA:158681
HP:0003341	Lamina lucida cleavage	3852	KRT5	ORPHA:79397
HP:0003341	Lamina lucida cleavage	3852	KRT5	ORPHA:79399
HP:0003341	Lamina lucida cleavage	3852	KRT5	ORPHA:79400
HP:0003341	Lamina lucida cleavage	3655	ITGA6	OMIM:619817
HP:0003341	Lamina lucida cleavage	3861	KRT14	ORPHA:79397
HP:0003341	Lamina lucida cleavage	3861	KRT14	ORPHA:79399
HP:0003341	Lamina lucida cleavage	3861	KRT14	ORPHA:79400
HP:0005592	Giant melanosomes in melanocytes	8943	AP3D1	ORPHA:54
HP:0005592	Giant melanosomes in melanocytes	4935	GPR143	ORPHA:54
HP:0005592	Giant melanosomes in melanocytes	4935	GPR143	OMIM:300500
HP:0005592	Giant melanosomes in melanocytes	1130	LYST	OMIM:214500
HP:0005592	Giant melanosomes in melanocytes	778	CACNA1F	OMIM:300600
HP:0003343	Reduced glutathione synthetase level	2937	GSS	OMIM:266130
HP:0003343	Reduced glutathione synthetase level	2937	GSS	OMIM:231900
HP:0003344	3-Methylglutaric aciduria	80207	OPA3	OMIM:258501
HP:0003344	3-Methylglutaric aciduria	131118	DNAJC19	OMIM:610198
HP:0003344	3-Methylglutaric aciduria	27429	HTRA2	OMIM:617248
HP:0003344	3-Methylglutaric aciduria	92609	TIMM50	OMIM:617698
HP:0003344	3-Methylglutaric aciduria	3155	HMGCL	ORPHA:20
HP:0003344	3-Methylglutaric aciduria	3155	HMGCL	OMIM:246450
HP:0003345	Elevated urinary norepinephrine	55654	TMEM127	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	55654	TMEM127	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	5979	RET	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	5979	RET	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	5979	RET	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	5979	RET	OMIM:171400
HP:0003345	Elevated urinary norepinephrine	6390	SDHB	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	6390	SDHB	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	6390	SDHB	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	6392	SDHD	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	6392	SDHD	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	6392	SDHD	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	4149	MAX	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	4149	MAX	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	7428	VHL	OMIM:171300
HP:0003345	Elevated urinary norepinephrine	7428	VHL	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	7428	VHL	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	1743	DLST	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	4191	MDH2	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	6389	SDHA	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	23095	KIF1B	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	2271	FH	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	8402	SLC25A11	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	54949	SDHAF2	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	4763	NF1	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	6391	SDHC	ORPHA:29072
HP:0003345	Elevated urinary norepinephrine	1788	DNMT3A	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	2034	EPAS1	ORPHA:276621
HP:0003345	Elevated urinary norepinephrine	6530	SLC6A2	OMIM:604715
HP:0002715	Abnormality of the immune system	9860	LRIG2	OMIM:615112
HP:0002715	Abnormality of the immune system	9860	LRIG2	ORPHA:2704
HP:0002715	Abnormality of the immune system	1859	DYRK1A	ORPHA:268261
HP:0002715	Abnormality of the immune system	11136	SLC7A9	OMIM:220100
HP:0002715	Abnormality of the immune system	6519	SLC3A1	OMIM:220100
HP:0002715	Abnormality of the immune system	3313	HSPA9	OMIM:616854
HP:0002715	Abnormality of the immune system	10686	CLDN16	OMIM:248250
HP:0002715	Abnormality of the immune system	51726	DNAJB11	ORPHA:730
HP:0002715	Abnormality of the immune system	23193	GANAB	ORPHA:730
HP:0002715	Abnormality of the immune system	5310	PKD1	ORPHA:730
HP:0002715	Abnormality of the immune system	5311	PKD2	ORPHA:730
HP:0002715	Abnormality of the immune system	5311	PKD2	OMIM:613095
HP:0002715	Abnormality of the immune system	29880	ALG5	ORPHA:730
HP:0002715	Abnormality of the immune system	80114	BICC1	ORPHA:730
HP:0002715	Abnormality of the immune system	54496	PRMT7	OMIM:617157
HP:0002715	Abnormality of the immune system	1136	CHRNA3	OMIM:191800
HP:0002715	Abnormality of the immune system	284252	KCTD1	ORPHA:2036
HP:0002715	Abnormality of the immune system	2019	EN1	OMIM:619218
HP:0002715	Abnormality of the immune system	10459	MAD2L2	ORPHA:84
HP:0002715	Abnormality of the immune system	7516	XRCC2	ORPHA:84
HP:0002715	Abnormality of the immune system	29089	UBE2T	ORPHA:84
HP:0002715	Abnormality of the immune system	55120	FANCL	ORPHA:84
HP:0002715	Abnormality of the immune system	2187	FANCB	ORPHA:84
HP:0002715	Abnormality of the immune system	5888	RAD51	ORPHA:84
HP:0002715	Abnormality of the immune system	5889	RAD51C	ORPHA:84
HP:0002715	Abnormality of the immune system	55159	RFWD3	ORPHA:84
HP:0002715	Abnormality of the immune system	83990	BRIP1	ORPHA:84
HP:0002715	Abnormality of the immune system	57697	FANCM	ORPHA:84
HP:0002715	Abnormality of the immune system	84464	SLX4	ORPHA:84
HP:0002715	Abnormality of the immune system	55215	FANCI	ORPHA:84
HP:0002715	Abnormality of the immune system	3670	ISL1	ORPHA:93930
HP:0002715	Abnormality of the immune system	3209	HOXA13	ORPHA:2438
HP:0002715	Abnormality of the immune system	10524	KAT5	OMIM:619103
HP:0002715	Abnormality of the immune system	149461	CLDN19	OMIM:248190
HP:0002715	Abnormality of the immune system	60495	HPSE2	ORPHA:2704
HP:0002715	Abnormality of the immune system	60495	HPSE2	OMIM:236730
HP:0002715	Abnormality of the immune system	6304	SATB1	OMIM:619229
HP:0002715	Abnormality of the immune system	28982	FLVCR1	OMIM:609033
HP:0002715	Abnormality of the immune system	538	ATP7A	ORPHA:198
HP:0002715	Abnormality of the immune system	84265	POLR3GL	OMIM:619234
HP:0002715	Abnormality of the immune system	54796	BNC2	ORPHA:93110
HP:0002715	Abnormality of the immune system	10056	FARSB	OMIM:613658
HP:0002715	Abnormality of the immune system	493856	CISD2	ORPHA:3463
HP:0002715	Abnormality of the immune system	7466	WFS1	ORPHA:3463
HP:0002715	Abnormality of the immune system	9380	GRHPR	ORPHA:93599
HP:0002715	Abnormality of the immune system	8936	WASF1	OMIM:618707
HP:0002715	Abnormality of the immune system	189	AGXT	ORPHA:93598
HP:0002715	Abnormality of the immune system	2131	EXT1	ORPHA:502
HP:0002715	Abnormality of the immune system	79228	THOC6	ORPHA:363444
HP:0002715	Abnormality of the immune system	79228	THOC6	OMIM:613680
HP:0002715	Abnormality of the immune system	7148	TNXB	OMIM:615963
HP:0002715	Abnormality of the immune system	9562	MINPP1	OMIM:619527
HP:0002715	Abnormality of the immune system	353	APRT	ORPHA:976
HP:0002715	Abnormality of the immune system	403	ARL3	OMIM:618161
HP:0002715	Abnormality of the immune system	6524	SLC5A2	ORPHA:69076
HP:0002715	Abnormality of the immune system	64321	SOX17	OMIM:613674
HP:0002715	Abnormality of the immune system	4052	LTBP1	ORPHA:90349
HP:0002715	Abnormality of the immune system	30008	EFEMP2	ORPHA:90349
HP:0002715	Abnormality of the immune system	3110	MNX1	OMIM:176450
HP:0002715	Abnormality of the immune system	2303	FOXC2	ORPHA:33001
HP:0002715	Abnormality of the immune system	56246	MRAP	ORPHA:361
HP:0002715	Abnormality of the immune system	6770	STAR	ORPHA:361
HP:0002715	Abnormality of the immune system	4158	MC2R	ORPHA:361
HP:0002715	Abnormality of the immune system	23530	NNT	ORPHA:361
HP:0002715	Abnormality of the immune system	10587	TXNRD2	ORPHA:361
HP:0002715	Abnormality of the immune system	3081	HGD	ORPHA:56
HP:0002715	Abnormality of the immune system	1493	CTLA4	ORPHA:900
HP:0002715	Abnormality of the immune system	3115	HLA-DPB1	ORPHA:900
HP:0002715	Abnormality of the immune system	5657	PRTN3	ORPHA:900
HP:0002715	Abnormality of the immune system	3113	HLA-DPA1	ORPHA:900
HP:0002715	Abnormality of the immune system	7374	UNG	OMIM:608106
HP:0002715	Abnormality of the immune system	7840	ALMS1	ORPHA:64
HP:0002715	Abnormality of the immune system	9056	SLC7A7	ORPHA:470
HP:0002715	Abnormality of the immune system	355	FAS	ORPHA:3261
HP:0002715	Abnormality of the immune system	356	FASLG	ORPHA:3261
HP:0002715	Abnormality of the immune system	5580	PRKCD	ORPHA:3261
HP:0002715	Abnormality of the immune system	843	CASP10	ORPHA:3261
HP:0002715	Abnormality of the immune system	10125	RASGRP1	ORPHA:3261
HP:0002715	Abnormality of the immune system	720	C4A	OMIM:614380
HP:0002715	Abnormality of the immune system	8651	SOCS1	OMIM:619375
HP:0002715	Abnormality of the immune system	975	CD81	OMIM:613496
HP:0002715	Abnormality of the immune system	3426	CFI	OMIM:610984
HP:0002715	Abnormality of the immune system	1285	COL4A3	OMIM:104200
HP:0002715	Abnormality of the immune system	50943	FOXP3	OMIM:304790
HP:0002715	Abnormality of the immune system	81494	CFHR5	OMIM:614809
HP:0002715	Abnormality of the immune system	4010	LMX1B	OMIM:161200
HP:0002715	Abnormality of the immune system	4312	MMP1	ORPHA:79408
HP:0002715	Abnormality of the immune system	1294	COL7A1	ORPHA:79408
HP:0002715	Abnormality of the immune system	4311	MME	ORPHA:69063
HP:0002715	Abnormality of the immune system	57728	WDR19	OMIM:614376
HP:0002715	Abnormality of the immune system	81603	TRIM8	OMIM:619428
HP:0002715	Abnormality of the immune system	7369	UMOD	OMIM:162000
HP:0002715	Abnormality of the immune system	1286	COL4A4	OMIM:203780
HP:0002715	Abnormality of the immune system	977	CD151	OMIM:609057
HP:0002715	Abnormality of the immune system	847	CAT	ORPHA:926
HP:0002715	Abnormality of the immune system	3321	IGSF3	OMIM:149700
HP:0002715	Abnormality of the immune system	11011	TLK2	OMIM:618050
HP:0002715	Abnormality of the immune system	3590	IL11RA	OMIM:614188
HP:0002715	Abnormality of the immune system	29123	ANKRD11	ORPHA:261250
HP:0002715	Abnormality of the immune system	2314	FLII	ORPHA:819
HP:0002715	Abnormality of the immune system	23096	IQSEC2	ORPHA:819
HP:0002715	Abnormality of the immune system	10743	RAI1	ORPHA:819
HP:0002715	Abnormality of the immune system	10522	DEAF1	ORPHA:819
HP:0002715	Abnormality of the immune system	23483	TGDS	ORPHA:1388
HP:0002715	Abnormality of the immune system	8604	SLC25A12	OMIM:612949
HP:0002715	Abnormality of the immune system	3071	NCKAP1L	OMIM:618982
HP:0002715	Abnormality of the immune system	64682	ANAPC1	OMIM:618625
HP:0002715	Abnormality of the immune system	9839	ZEB2	OMIM:235730
HP:0002715	Abnormality of the immune system	9839	ZEB2	ORPHA:261552
HP:0002715	Abnormality of the immune system	9839	ZEB2	ORPHA:261537
HP:0002715	Abnormality of the immune system	80232	WDR26	ORPHA:513456
HP:0002715	Abnormality of the immune system	80232	WDR26	OMIM:617616
HP:0002715	Abnormality of the immune system	89765	RSPH1	OMIM:615481
HP:0002715	Abnormality of the immune system	89765	RSPH1	ORPHA:244
HP:0002715	Abnormality of the immune system	4487	MSX1	ORPHA:199306
HP:0002715	Abnormality of the immune system	1739	DLG1	ORPHA:199306
HP:0002715	Abnormality of the immune system	652	BMP4	ORPHA:199306
HP:0002715	Abnormality of the immune system	999	CDH1	ORPHA:199306
HP:0002715	Abnormality of the immune system	3664	IRF6	ORPHA:199306
HP:0002715	Abnormality of the immune system	9411	ARHGAP29	ORPHA:199306
HP:0002715	Abnormality of the immune system	1748	DLX4	ORPHA:199306
HP:0002715	Abnormality of the immune system	51111	KMT5B	OMIM:617788
HP:0002715	Abnormality of the immune system	146845	CFAP52	OMIM:619607
HP:0002715	Abnormality of the immune system	144568	A2ML1	OMIM:166760
HP:0002715	Abnormality of the immune system	8382	NME5	OMIM:620032
HP:0002715	Abnormality of the immune system	1301	COL11A1	OMIM:154780
HP:0002715	Abnormality of the immune system	56992	KIF15	ORPHA:261323
HP:0002715	Abnormality of the immune system	123872	DNAAF1	OMIM:613193
HP:0002715	Abnormality of the immune system	123872	DNAAF1	ORPHA:244
HP:0002715	Abnormality of the immune system	1717	DHCR7	OMIM:270400
HP:0002715	Abnormality of the immune system	6885	MAP3K7	OMIM:157800
HP:0002715	Abnormality of the immune system	56006	SMG9	OMIM:619995
HP:0002715	Abnormality of the immune system	8260	NAA10	OMIM:309800
HP:0002715	Abnormality of the immune system	8260	NAA10	OMIM:300855
HP:0002715	Abnormality of the immune system	54880	BCOR	OMIM:309800
HP:0002715	Abnormality of the immune system	6135	RPL11	OMIM:612562
HP:0002715	Abnormality of the immune system	54499	TMCO1	OMIM:213980
HP:0002715	Abnormality of the immune system	113179	ADAT3	OMIM:615286
HP:0002715	Abnormality of the immune system	113179	ADAT3	ORPHA:363528
HP:0002715	Abnormality of the immune system	54919	DNAAF5	OMIM:614874
HP:0002715	Abnormality of the immune system	54919	DNAAF5	ORPHA:244
HP:0002715	Abnormality of the immune system	3373	HYAL1	OMIM:601492
HP:0002715	Abnormality of the immune system	2535	FZD2	OMIM:164745
HP:0002715	Abnormality of the immune system	7030	TFE3	OMIM:301066
HP:0002715	Abnormality of the immune system	92749	DRC1	OMIM:615294
HP:0002715	Abnormality of the immune system	92749	DRC1	ORPHA:244
HP:0002715	Abnormality of the immune system	3978	LIG1	OMIM:619774
HP:0002715	Abnormality of the immune system	6603	SMARCD2	OMIM:617475
HP:0002715	Abnormality of the immune system	3930	LBR	OMIM:169400
HP:0002715	Abnormality of the immune system	246176	GAS2L2	OMIM:618449
HP:0002715	Abnormality of the immune system	246176	GAS2L2	ORPHA:244
HP:0002715	Abnormality of the immune system	25981	DNAH1	ORPHA:244
HP:0002715	Abnormality of the immune system	27148	STK36	ORPHA:244
HP:0002715	Abnormality of the immune system	27148	STK36	OMIM:619436
HP:0002715	Abnormality of the immune system	152110	NEK10	ORPHA:244
HP:0002715	Abnormality of the immune system	2302	FOXJ1	ORPHA:244
HP:0002715	Abnormality of the immune system	83544	DNAL1	ORPHA:244
HP:0002715	Abnormality of the immune system	83538	ODAD4	ORPHA:244
HP:0002715	Abnormality of the immune system	200373	CFAP221	ORPHA:244
HP:0002715	Abnormality of the immune system	374407	DNAJB13	ORPHA:244
HP:0002715	Abnormality of the immune system	55172	DNAAF2	ORPHA:244
HP:0002715	Abnormality of the immune system	2622	GAS8	ORPHA:244
HP:0002715	Abnormality of the immune system	2622	GAS8	OMIM:616726
HP:0002715	Abnormality of the immune system	55130	ODAD2	ORPHA:244
HP:0002715	Abnormality of the immune system	55130	ODAD2	OMIM:615451
HP:0002715	Abnormality of the immune system	79925	SPEF2	ORPHA:244
HP:0002715	Abnormality of the immune system	115399	LRRC56	ORPHA:244
HP:0002715	Abnormality of the immune system	115399	LRRC56	OMIM:618254
HP:0002715	Abnormality of the immune system	85016	CFAP300	ORPHA:244
HP:0002715	Abnormality of the immune system	8701	DNAH11	ORPHA:244
HP:0002715	Abnormality of the immune system	8701	DNAH11	OMIM:611884
HP:0002715	Abnormality of the immune system	1770	DNAH9	ORPHA:244
HP:0002715	Abnormality of the immune system	2742	GLRA2	OMIM:301076
HP:0002715	Abnormality of the immune system	55023	PHIP	ORPHA:589905
HP:0002715	Abnormality of the immune system	29072	SETD2	OMIM:616831
HP:0002715	Abnormality of the immune system	1642	DDB1	OMIM:619426
HP:0002715	Abnormality of the immune system	388015	RTL1	ORPHA:254531
HP:0002715	Abnormality of the immune system	388015	RTL1	ORPHA:96184
HP:0002715	Abnormality of the immune system	8788	DLK1	ORPHA:254531
HP:0002715	Abnormality of the immune system	8788	DLK1	ORPHA:96184
HP:0002715	Abnormality of the immune system	55384	MEG3	ORPHA:254531
HP:0002715	Abnormality of the immune system	55384	MEG3	ORPHA:96184
HP:0002715	Abnormality of the immune system	100151683	RNU4ATAC	ORPHA:353298
HP:0002715	Abnormality of the immune system	100151683	RNU4ATAC	OMIM:616651
HP:0002715	Abnormality of the immune system	9094	UNC119	OMIM:615518
HP:0002715	Abnormality of the immune system	7314	UBB	ORPHA:99772
HP:0002715	Abnormality of the immune system	57822	GRHL3	ORPHA:99772
HP:0002715	Abnormality of the immune system	5575	PRKAR1B	OMIM:619680
HP:0002715	Abnormality of the immune system	10847	SRCAP	OMIM:136140
HP:0002715	Abnormality of the immune system	4297	KMT2A	OMIM:605130
HP:0002715	Abnormality of the immune system	2332	FMR1	ORPHA:449291
HP:0002715	Abnormality of the immune system	6045	RNF2	OMIM:619460
HP:0002715	Abnormality of the immune system	1280	COL2A1	OMIM:156550
HP:0002715	Abnormality of the immune system	5718	PSMD12	ORPHA:529962
HP:0002715	Abnormality of the immune system	2186	BPTF	ORPHA:529962
HP:0002715	Abnormality of the immune system	1822	ATN1	OMIM:618494
HP:0002715	Abnormality of the immune system	7403	KDM6A	OMIM:300867
HP:0002715	Abnormality of the immune system	7403	KDM6A	OMIM:147920
HP:0002715	Abnormality of the immune system	57003	CCDC47	OMIM:618268
HP:0002715	Abnormality of the immune system	5977	DPF2	OMIM:618027
HP:0002715	Abnormality of the immune system	55329	MNS1	OMIM:618948
HP:0002715	Abnormality of the immune system	920	CD4	OMIM:619238
HP:0002715	Abnormality of the immune system	23112	TNRC6B	OMIM:619243
HP:0002715	Abnormality of the immune system	2799	GNS	OMIM:252940
HP:0002715	Abnormality of the immune system	5879	RAC1	OMIM:617751
HP:0002715	Abnormality of the immune system	5879	RAC1	ORPHA:500159
HP:0002715	Abnormality of the immune system	341208	HEPHL1	OMIM:261990
HP:0002715	Abnormality of the immune system	6736	SRY	ORPHA:1772
HP:0002715	Abnormality of the immune system	5130	PCYT1A	OMIM:608940
HP:0002715	Abnormality of the immune system	5080	PAX6	ORPHA:2334
HP:0002715	Abnormality of the immune system	5080	PAX6	OMIM:148190
HP:0002715	Abnormality of the immune system	2263	FGFR2	OMIM:123500
HP:0002715	Abnormality of the immune system	5429	POLH	OMIM:278750
HP:0002715	Abnormality of the immune system	5429	POLH	ORPHA:90342
HP:0002715	Abnormality of the immune system	6935	ZEB1	OMIM:613270
HP:0002715	Abnormality of the immune system	8218	CLTCL1	ORPHA:453510
HP:0002715	Abnormality of the immune system	2074	ERCC6	OMIM:278800
HP:0002715	Abnormality of the immune system	204219	CERS3	ORPHA:79394
HP:0002715	Abnormality of the immune system	285848	PNPLA1	ORPHA:79394
HP:0002715	Abnormality of the immune system	9244	CRLF1	OMIM:272430
HP:0002715	Abnormality of the immune system	23476	BRD4	ORPHA:199
HP:0002715	Abnormality of the immune system	9126	SMC3	ORPHA:199
HP:0002715	Abnormality of the immune system	8243	SMC1A	ORPHA:199
HP:0002715	Abnormality of the immune system	25836	NIPBL	ORPHA:199
HP:0002715	Abnormality of the immune system	55869	HDAC8	ORPHA:199
HP:0002715	Abnormality of the immune system	5885	RAD21	ORPHA:199
HP:0002715	Abnormality of the immune system	5980	REV3L	ORPHA:570
HP:0002715	Abnormality of the immune system	23129	PLXND1	ORPHA:570
HP:0002715	Abnormality of the immune system	51360	MBTPS2	ORPHA:2273
HP:0002715	Abnormality of the immune system	51360	MBTPS2	OMIM:308800
HP:0002715	Abnormality of the immune system	51360	MBTPS2	OMIM:300918
HP:0002715	Abnormality of the immune system	348	APOE	ORPHA:158029
HP:0002715	Abnormality of the immune system	6868	ADAM17	OMIM:614328
HP:0002715	Abnormality of the immune system	6868	ADAM17	ORPHA:294023
HP:0002715	Abnormality of the immune system	1736	DKC1	OMIM:305000
HP:0002715	Abnormality of the immune system	1736	DKC1	ORPHA:1775
HP:0002715	Abnormality of the immune system	10804	GJB6	OMIM:129500
HP:0002715	Abnormality of the immune system	79650	USB1	OMIM:604173
HP:0002715	Abnormality of the immune system	79650	USB1	ORPHA:1775
HP:0002715	Abnormality of the immune system	6768	ST14	OMIM:602400
HP:0002715	Abnormality of the immune system	55630	SLC39A4	ORPHA:37
HP:0002715	Abnormality of the immune system	23556	PIGN	ORPHA:280633
HP:0002715	Abnormality of the immune system	9496	TBX4	ORPHA:261279
HP:0002715	Abnormality of the immune system	80169	CTC1	ORPHA:1775
HP:0002715	Abnormality of the immune system	26277	TINF2	ORPHA:1775
HP:0002715	Abnormality of the immune system	55651	NHP2	ORPHA:1775
HP:0002715	Abnormality of the immune system	55135	WRAP53	ORPHA:1775
HP:0002715	Abnormality of the immune system	51750	RTEL1	ORPHA:1775
HP:0002715	Abnormality of the immune system	4869	NPM1	ORPHA:1775
HP:0002715	Abnormality of the immune system	7012	TERC	ORPHA:1775
HP:0002715	Abnormality of the immune system	55505	NOP10	ORPHA:1775
HP:0002715	Abnormality of the immune system	5073	PARN	ORPHA:1775
HP:0002715	Abnormality of the immune system	7015	TERT	ORPHA:1775
HP:0002715	Abnormality of the immune system	7298	TYMS	ORPHA:1775
HP:0002715	Abnormality of the immune system	5333	PLCD1	ORPHA:2387
HP:0002715	Abnormality of the immune system	1474	CST6	OMIM:618535
HP:0002715	Abnormality of the immune system	6307	MSMO1	OMIM:616834
HP:0002715	Abnormality of the immune system	1956	EGFR	ORPHA:294023
HP:0002715	Abnormality of the immune system	2068	ERCC2	ORPHA:910
HP:0002715	Abnormality of the immune system	7507	XPA	ORPHA:910
HP:0002715	Abnormality of the immune system	2071	ERCC3	ORPHA:910
HP:0002715	Abnormality of the immune system	7508	XPC	ORPHA:910
HP:0002715	Abnormality of the immune system	1643	DDB2	ORPHA:910
HP:0002715	Abnormality of the immune system	2072	ERCC4	ORPHA:910
HP:0002715	Abnormality of the immune system	2073	ERCC5	ORPHA:910
HP:0002715	Abnormality of the immune system	2067	ERCC1	ORPHA:90322
HP:0002715	Abnormality of the immune system	5075	PAX1	OMIM:615560
HP:0002715	Abnormality of the immune system	5340	PLG	OMIM:217090
HP:0002715	Abnormality of the immune system	220202	ATOH7	OMIM:221900
HP:0002715	Abnormality of the immune system	726	CAPN5	OMIM:193235
HP:0002715	Abnormality of the immune system	1281	COL3A1	OMIM:130050
HP:0002715	Abnormality of the immune system	1281	COL3A1	ORPHA:286
HP:0002715	Abnormality of the immune system	715	C1R	ORPHA:75392
HP:0002715	Abnormality of the immune system	715	C1R	OMIM:130080
HP:0002715	Abnormality of the immune system	92344	GORAB	OMIM:231070
HP:0002715	Abnormality of the immune system	137814	NKX2-6	ORPHA:3384
HP:0002715	Abnormality of the immune system	84172	POLR1B	ORPHA:861
HP:0002715	Abnormality of the immune system	9533	POLR1C	ORPHA:861
HP:0002715	Abnormality of the immune system	51082	POLR1D	ORPHA:861
HP:0002715	Abnormality of the immune system	6949	TCOF1	ORPHA:861
HP:0002715	Abnormality of the immune system	341640	FREM2	OMIM:617666
HP:0002715	Abnormality of the immune system	8526	DGKE	OMIM:615008
HP:0002715	Abnormality of the immune system	10068	IL18BP	OMIM:618549
HP:0002715	Abnormality of the immune system	5428	POLG	ORPHA:94125
HP:0002715	Abnormality of the immune system	27022	FOXD3	OMIM:607836
HP:0002715	Abnormality of the immune system	1188	CLCNKB	ORPHA:358
HP:0002715	Abnormality of the immune system	6559	SLC12A3	ORPHA:358
HP:0002715	Abnormality of the immune system	8036	SHOC2	OMIM:607721
HP:0002715	Abnormality of the immune system	2235	FECH	OMIM:177000
HP:0002715	Abnormality of the immune system	2235	FECH	ORPHA:79278
HP:0002715	Abnormality of the immune system	26960	NBEA	OMIM:619157
HP:0002715	Abnormality of the immune system	9759	HDAC4	ORPHA:1001
HP:0002715	Abnormality of the immune system	9759	HDAC4	OMIM:600430
HP:0002715	Abnormality of the immune system	3021	H3-3B	OMIM:619721
HP:0002715	Abnormality of the immune system	79644	SRD5A3	OMIM:612379
HP:0002715	Abnormality of the immune system	5053	PAH	OMIM:261600
HP:0002715	Abnormality of the immune system	5053	PAH	ORPHA:79254
HP:0002715	Abnormality of the immune system	16	AARS1	OMIM:619691
HP:0002715	Abnormality of the immune system	1896	EDA	OMIM:305100
HP:0002715	Abnormality of the immune system	7780	SLC30A2	OMIM:608118
HP:0002715	Abnormality of the immune system	6821	SUOX	OMIM:272300
HP:0002715	Abnormality of the immune system	26053	AUTS2	ORPHA:352490
HP:0002715	Abnormality of the immune system	25942	SIN3A	OMIM:613406
HP:0002715	Abnormality of the immune system	126695	KDF1	OMIM:617337
HP:0002715	Abnormality of the immune system	126695	KDF1	ORPHA:1810
HP:0002715	Abnormality of the immune system	25914	RTTN	ORPHA:468631
HP:0002715	Abnormality of the immune system	283209	PGM2L1	OMIM:620191
HP:0002715	Abnormality of the immune system	203190	LGI3	OMIM:620007
HP:0002715	Abnormality of the immune system	55181	SMG8	OMIM:619268
HP:0002715	Abnormality of the immune system	7189	TRAF6	ORPHA:1810
HP:0002715	Abnormality of the immune system	10913	EDAR	ORPHA:1810
HP:0002715	Abnormality of the immune system	7010	TEK	ORPHA:1059
HP:0002715	Abnormality of the immune system	23152	CIC	OMIM:617600
HP:0002715	Abnormality of the immune system	2697	GJA1	ORPHA:317
HP:0002715	Abnormality of the immune system	2531	KDSR	ORPHA:317
HP:0002715	Abnormality of the immune system	127534	GJB4	ORPHA:317
HP:0002715	Abnormality of the immune system	55739	NAXD	OMIM:618321
HP:0002715	Abnormality of the immune system	6389	SDHA	ORPHA:44890
HP:0002715	Abnormality of the immune system	9181	ARHGEF2	OMIM:617523
HP:0002715	Abnormality of the immune system	56916	SMARCAD1	ORPHA:1658
HP:0002715	Abnormality of the immune system	3858	KRT10	ORPHA:312
HP:0002715	Abnormality of the immune system	3858	KRT10	OMIM:609165
HP:0002715	Abnormality of the immune system	9526	MPDU1	OMIM:609180
HP:0002715	Abnormality of the immune system	162	AP1B1	OMIM:242150
HP:0002715	Abnormality of the immune system	57609	DIP2B	OMIM:136630
HP:0002715	Abnormality of the immune system	4047	LSS	OMIM:618840
HP:0002715	Abnormality of the immune system	2707	GJB3	OMIM:133200
HP:0002715	Abnormality of the immune system	10682	EBP	OMIM:302960
HP:0002715	Abnormality of the immune system	10682	EBP	ORPHA:35173
HP:0002715	Abnormality of the immune system	2615	LRRC32	OMIM:619074
HP:0002715	Abnormality of the immune system	388698	FLG2	OMIM:618084
HP:0002715	Abnormality of the immune system	10060	ABCC9	OMIM:619719
HP:0002715	Abnormality of the immune system	23102	TBC1D2B	ORPHA:397973
HP:0002715	Abnormality of the immune system	22880	MORC2	ORPHA:466768
HP:0002715	Abnormality of the immune system	79755	ZNF750	OMIM:610227
HP:0002715	Abnormality of the immune system	64087	MCCC2	OMIM:210210
HP:0002715	Abnormality of the immune system	7086	TKT	ORPHA:488618
HP:0002715	Abnormality of the immune system	374393	FAM111B	OMIM:615704
HP:0002715	Abnormality of the immune system	9563	H6PD	OMIM:604931
HP:0002715	Abnormality of the immune system	8622	PDE8B	ORPHA:189439
HP:0002715	Abnormality of the immune system	54361	WNT4	ORPHA:247768
HP:0002715	Abnormality of the immune system	54361	WNT4	OMIM:158330
HP:0002715	Abnormality of the immune system	285590	SH3PXD2B	ORPHA:137834
HP:0002715	Abnormality of the immune system	285590	SH3PXD2B	OMIM:249420
HP:0002715	Abnormality of the immune system	9060	PAPSS2	OMIM:612847
HP:0002715	Abnormality of the immune system	2099	ESR1	ORPHA:785
HP:0002715	Abnormality of the immune system	2099	ESR1	OMIM:615363
HP:0002715	Abnormality of the immune system	79798	ARMC5	ORPHA:189427
HP:0002715	Abnormality of the immune system	1584	CYP11B1	ORPHA:90795
HP:0002715	Abnormality of the immune system	3973	LHCGR	ORPHA:3000
HP:0002715	Abnormality of the immune system	83550	GPR101	ORPHA:963
HP:0002715	Abnormality of the immune system	9049	AIP	ORPHA:963
HP:0002715	Abnormality of the immune system	64131	XYLT1	ORPHA:370930
HP:0002715	Abnormality of the immune system	4212	MEIS2	ORPHA:261190
HP:0002715	Abnormality of the immune system	368	ABCC6	ORPHA:758
HP:0002715	Abnormality of the immune system	367	AR	ORPHA:99429
HP:0002715	Abnormality of the immune system	2255	FGF10	ORPHA:2363
HP:0002715	Abnormality of the immune system	55699	IARS2	OMIM:616007
HP:0002715	Abnormality of the immune system	4547	MTTP	ORPHA:14
HP:0002715	Abnormality of the immune system	2934	GSN	ORPHA:85448
HP:0002715	Abnormality of the immune system	4081	MAB21L1	OMIM:618479
HP:0002715	Abnormality of the immune system	2200	FBN1	OMIM:616914
HP:0002715	Abnormality of the immune system	165	AEBP1	ORPHA:536532
HP:0002715	Abnormality of the immune system	54820	NDE1	ORPHA:2177
HP:0002715	Abnormality of the immune system	81839	VANGL1	OMIM:600145
HP:0002715	Abnormality of the immune system	10466	COG5	ORPHA:263487
HP:0002715	Abnormality of the immune system	2632	GBE1	OMIM:232500
HP:0002715	Abnormality of the immune system	55823	VPS11	ORPHA:466934
HP:0002715	Abnormality of the immune system	3074	HEXB	OMIM:268800
HP:0002715	Abnormality of the immune system	3074	HEXB	ORPHA:309155
HP:0002715	Abnormality of the immune system	2122	MECOM	OMIM:616738
HP:0002715	Abnormality of the immune system	5476	CTSA	OMIM:256540
HP:0002715	Abnormality of the immune system	9382	COG1	ORPHA:263508
HP:0002715	Abnormality of the immune system	9371	KIF3B	OMIM:618955
HP:0002715	Abnormality of the immune system	2193	FARSA	OMIM:619013
HP:0002715	Abnormality of the immune system	5194	PEX13	OMIM:614885
HP:0002715	Abnormality of the immune system	1513	CTSK	ORPHA:763
HP:0002715	Abnormality of the immune system	6309	SC5D	OMIM:607330
HP:0002715	Abnormality of the immune system	59335	PRDM12	OMIM:616488
HP:0002715	Abnormality of the immune system	11322	TMC6	ORPHA:302
HP:0002715	Abnormality of the immune system	3574	IL7	ORPHA:302
HP:0002715	Abnormality of the immune system	147138	TMC8	ORPHA:302
HP:0002715	Abnormality of the immune system	10519	CIB1	ORPHA:302
HP:0002715	Abnormality of the immune system	113189	CHST14	OMIM:601776
HP:0002715	Abnormality of the immune system	113189	CHST14	ORPHA:2953
HP:0002715	Abnormality of the immune system	10525	HYOU1	OMIM:233600
HP:0002715	Abnormality of the immune system	4780	NFE2L2	OMIM:617744
HP:0002715	Abnormality of the immune system	9837	GINS1	OMIM:617827
HP:0002715	Abnormality of the immune system	5317	PKP1	ORPHA:158668
HP:0002715	Abnormality of the immune system	85358	SHANK3	ORPHA:48652
HP:0002715	Abnormality of the immune system	29940	DSE	ORPHA:2953
HP:0002715	Abnormality of the immune system	57591	MRTFA	OMIM:618847
HP:0002715	Abnormality of the immune system	3848	KRT1	ORPHA:79503
HP:0002715	Abnormality of the immune system	57165	GJC2	OMIM:613480
HP:0002715	Abnormality of the immune system	26258	BLOC1S6	OMIM:614171
HP:0002715	Abnormality of the immune system	3852	KRT5	ORPHA:79396
HP:0002715	Abnormality of the immune system	3861	KRT14	ORPHA:79396
HP:0002715	Abnormality of the immune system	4094	MAF	ORPHA:1272
HP:0002715	Abnormality of the immune system	4094	MAF	OMIM:601088
HP:0002715	Abnormality of the immune system	10216	PRG4	ORPHA:2848
HP:0002715	Abnormality of the immune system	2213	FCGR2B	OMIM:152700
HP:0002715	Abnormality of the immune system	1773	DNASE1	OMIM:152700
HP:0002715	Abnormality of the immune system	3039	HBA1	ORPHA:163596
HP:0002715	Abnormality of the immune system	3040	HBA2	ORPHA:163596
HP:0002715	Abnormality of the immune system	4594	MMUT	ORPHA:289916
HP:0002715	Abnormality of the immune system	4594	MMUT	OMIM:251000
HP:0002715	Abnormality of the immune system	4594	MMUT	ORPHA:79312
HP:0002715	Abnormality of the immune system	1629	DBT	OMIM:248600
HP:0002715	Abnormality of the immune system	593	BCKDHA	OMIM:248600
HP:0002715	Abnormality of the immune system	594	BCKDHB	OMIM:248600
HP:0002715	Abnormality of the immune system	4023	LPL	OMIM:238600
HP:0002715	Abnormality of the immune system	11330	CTRC	OMIM:167800
HP:0002715	Abnormality of the immune system	6690	SPINK1	OMIM:167800
HP:0002715	Abnormality of the immune system	5645	PRSS2	OMIM:167800
HP:0002715	Abnormality of the immune system	5644	PRSS1	OMIM:167800
HP:0002715	Abnormality of the immune system	79577	CDC73	ORPHA:143
HP:0002715	Abnormality of the immune system	79577	CDC73	ORPHA:99880
HP:0002715	Abnormality of the immune system	57104	PNPLA2	ORPHA:565612
HP:0002715	Abnormality of the immune system	4722	NDUFS3	OMIM:618230
HP:0002715	Abnormality of the immune system	63924	CIDEC	ORPHA:435651
HP:0002715	Abnormality of the immune system	50940	PDE11A	OMIM:610475
HP:0002715	Abnormality of the immune system	10165	SLC25A13	OMIM:603471
HP:0002715	Abnormality of the immune system	10165	SLC25A13	ORPHA:247585
HP:0002715	Abnormality of the immune system	72	ACTG2	OMIM:155310
HP:0002715	Abnormality of the immune system	10273	STUB1	ORPHA:412057
HP:0002715	Abnormality of the immune system	133686	NADK2	ORPHA:431361
HP:0002715	Abnormality of the immune system	2538	G6PC1	OMIM:232200
HP:0002715	Abnormality of the immune system	26007	TKFC	OMIM:618805
HP:0002715	Abnormality of the immune system	5468	PPARG	ORPHA:79083
HP:0002715	Abnormality of the immune system	875	CBS	OMIM:236200
HP:0002715	Abnormality of the immune system	5095	PCCA	OMIM:606054
HP:0002715	Abnormality of the immune system	5096	PCCB	OMIM:606054
HP:0002715	Abnormality of the immune system	1175	AP2S1	OMIM:600740
HP:0002715	Abnormality of the immune system	9054	NFS1	OMIM:619386
HP:0002715	Abnormality of the immune system	64788	LMF1	OMIM:246650
HP:0002715	Abnormality of the immune system	344	APOC2	OMIM:207750
HP:0002715	Abnormality of the immune system	846	CASR	OMIM:145980
HP:0002715	Abnormality of the immune system	7388	UQCRH	OMIM:620137
HP:0002715	Abnormality of the immune system	338328	GPIHBP1	OMIM:615947
HP:0002715	Abnormality of the immune system	149233	IL23R	ORPHA:117
HP:0002715	Abnormality of the immune system	3586	IL10	ORPHA:117
HP:0002715	Abnormality of the immune system	1230	CCR1	ORPHA:117
HP:0002715	Abnormality of the immune system	3592	IL12A	ORPHA:117
HP:0002715	Abnormality of the immune system	101928376	IL12A-AS1	ORPHA:117
HP:0002715	Abnormality of the immune system	7099	TLR4	ORPHA:117
HP:0002715	Abnormality of the immune system	337867	UBAC2	ORPHA:117
HP:0002715	Abnormality of the immune system	51752	ERAP1	ORPHA:117
HP:0002715	Abnormality of the immune system	8302	KLRC4	ORPHA:117
HP:0002715	Abnormality of the immune system	3155	HMGCL	ORPHA:20
HP:0002715	Abnormality of the immune system	286053	NSMCE2	OMIM:617253
HP:0002715	Abnormality of the immune system	26580	BSCL2	OMIM:269700
HP:0002715	Abnormality of the immune system	10555	AGPAT2	OMIM:608594
HP:0002715	Abnormality of the immune system	5590	PRKCZ	ORPHA:1606
HP:0002715	Abnormality of the immune system	2563	GABRD	ORPHA:1606
HP:0002715	Abnormality of the immune system	23013	SPEN	ORPHA:1606
HP:0002715	Abnormality of the immune system	8510	MMP23B	ORPHA:1606
HP:0002715	Abnormality of the immune system	7798	LUZP1	ORPHA:1606
HP:0002715	Abnormality of the immune system	6497	SKI	ORPHA:1606
HP:0002715	Abnormality of the immune system	10630	PDPN	ORPHA:1606
HP:0002715	Abnormality of the immune system	3339	HSPG2	ORPHA:1606
HP:0002715	Abnormality of the immune system	10277	UBE4B	ORPHA:1606
HP:0002715	Abnormality of the immune system	8514	KCNAB2	ORPHA:1606
HP:0002715	Abnormality of the immune system	473	RERE	ORPHA:1606
HP:0002715	Abnormality of the immune system	63976	PRDM16	ORPHA:1606
HP:0002715	Abnormality of the immune system	54897	CASZ1	ORPHA:1606
HP:0002715	Abnormality of the immune system	4609	MYC	ORPHA:543
HP:0002715	Abnormality of the immune system	23592	LEMD3	ORPHA:94063
HP:0002715	Abnormality of the immune system	1497	CTNS	OMIM:219800
HP:0002715	Abnormality of the immune system	7293	TNFRSF4	OMIM:615593
HP:0002715	Abnormality of the immune system	55240	STEAP3	OMIM:615234
HP:0002715	Abnormality of the immune system	19	ABCA1	OMIM:205400
HP:0002715	Abnormality of the immune system	755	CFAP410	OMIM:602271
HP:0002715	Abnormality of the immune system	148738	HJV	OMIM:602390
HP:0002715	Abnormality of the immune system	197131	UBR1	OMIM:243800
HP:0002715	Abnormality of the immune system	84936	ZFYVE19	OMIM:619849
HP:0002715	Abnormality of the immune system	10730	YME1L1	OMIM:617302
HP:0002715	Abnormality of the immune system	60561	RINT1	OMIM:618641
HP:0002715	Abnormality of the immune system	54567	DLL4	OMIM:616589
HP:0002715	Abnormality of the immune system	1716	DGUOK	OMIM:251880
HP:0002715	Abnormality of the immune system	1716	DGUOK	OMIM:617068
HP:0002715	Abnormality of the immune system	1441	CSF3R	OMIM:162830
HP:0002715	Abnormality of the immune system	2035	EPB41	ORPHA:288
HP:0002715	Abnormality of the immune system	2035	EPB41	OMIM:611804
HP:0002715	Abnormality of the immune system	2995	GYPC	ORPHA:288
HP:0002715	Abnormality of the immune system	6710	SPTB	ORPHA:288
HP:0002715	Abnormality of the immune system	6710	SPTB	ORPHA:822
HP:0002715	Abnormality of the immune system	6710	SPTB	OMIM:616649
HP:0002715	Abnormality of the immune system	6708	SPTA1	ORPHA:288
HP:0002715	Abnormality of the immune system	6708	SPTA1	ORPHA:822
HP:0002715	Abnormality of the immune system	57231	SNX14	OMIM:616354
HP:0002715	Abnormality of the immune system	1371	CPOX	OMIM:618892
HP:0002715	Abnormality of the immune system	1371	CPOX	OMIM:121300
HP:0002715	Abnormality of the immune system	80739	MPIG6B	OMIM:617441
HP:0002715	Abnormality of the immune system	4645	MYO5B	OMIM:619868
HP:0002715	Abnormality of the immune system	2057	EPOR	OMIM:133100
HP:0002715	Abnormality of the immune system	595	CCND1	ORPHA:29073
HP:0002715	Abnormality of the immune system	595	CCND1	ORPHA:52416
HP:0002715	Abnormality of the immune system	286	ANK1	ORPHA:251066
HP:0002715	Abnormality of the immune system	286	ANK1	OMIM:182900
HP:0002715	Abnormality of the immune system	286	ANK1	ORPHA:822
HP:0002715	Abnormality of the immune system	285362	SUMF1	OMIM:272200
HP:0002715	Abnormality of the immune system	285362	SUMF1	ORPHA:585
HP:0002715	Abnormality of the immune system	2153	F5	ORPHA:131
HP:0002715	Abnormality of the immune system	5286	PIK3C2A	OMIM:618440
HP:0002715	Abnormality of the immune system	654	BMP6	ORPHA:465508
HP:0002715	Abnormality of the immune system	54532	USP53	OMIM:619658
HP:0002715	Abnormality of the immune system	2184	FAH	OMIM:276700
HP:0002715	Abnormality of the immune system	2184	FAH	ORPHA:882
HP:0002715	Abnormality of the immune system	5825	ABCD3	OMIM:616278
HP:0002715	Abnormality of the immune system	5256	PHKA2	ORPHA:264580
HP:0002715	Abnormality of the immune system	5256	PHKA2	OMIM:306000
HP:0002715	Abnormality of the immune system	5261	PHKG2	ORPHA:264580
HP:0002715	Abnormality of the immune system	5261	PHKG2	OMIM:613027
HP:0002715	Abnormality of the immune system	65992	DDRGK1	OMIM:602557
HP:0002715	Abnormality of the immune system	6448	SGSH	OMIM:252900
HP:0002715	Abnormality of the immune system	9842	PLEKHM1	OMIM:618107
HP:0002715	Abnormality of the immune system	6916	TBXAS1	ORPHA:1802
HP:0002715	Abnormality of the immune system	5009	OTC	ORPHA:664
HP:0002715	Abnormality of the immune system	58484	NLRC4	OMIM:616050
HP:0002715	Abnormality of the immune system	55503	TRPV6	ORPHA:417
HP:0002715	Abnormality of the immune system	23218	NBEAL2	OMIM:139090
HP:0002715	Abnormality of the immune system	23218	NBEAL2	ORPHA:721
HP:0002715	Abnormality of the immune system	3756	KCNH1	OMIM:135500
HP:0002715	Abnormality of the immune system	3756	KCNH1	ORPHA:3473
HP:0002715	Abnormality of the immune system	212	ALAS2	ORPHA:75563
HP:0002715	Abnormality of the immune system	6007	RHD	OMIM:619462
HP:0002715	Abnormality of the immune system	55340	GIMAP5	OMIM:619463
HP:0002715	Abnormality of the immune system	650	BMP2	OMIM:235200
HP:0002715	Abnormality of the immune system	51095	TRNT1	OMIM:616084
HP:0002715	Abnormality of the immune system	9420	CYP7B1	OMIM:613812
HP:0002715	Abnormality of the immune system	7504	XK	OMIM:300842
HP:0002715	Abnormality of the immune system	226	ALDOA	OMIM:611881
HP:0002715	Abnormality of the immune system	5264	PHYH	ORPHA:773
HP:0002715	Abnormality of the immune system	5191	PEX7	ORPHA:773
HP:0002715	Abnormality of the immune system	3295	HSD17B4	OMIM:261515
HP:0002715	Abnormality of the immune system	138050	HGSNAT	OMIM:252930
HP:0002715	Abnormality of the immune system	5313	PKLR	ORPHA:766
HP:0002715	Abnormality of the immune system	5313	PKLR	OMIM:266200
HP:0002715	Abnormality of the immune system	5257	PHKB	OMIM:261750
HP:0002715	Abnormality of the immune system	5257	PHKB	ORPHA:79240
HP:0002715	Abnormality of the immune system	146059	CDAN1	OMIM:224120
HP:0002715	Abnormality of the immune system	4669	NAGLU	OMIM:252920
HP:0002715	Abnormality of the immune system	6521	SLC4A1	OMIM:185020
HP:0002715	Abnormality of the immune system	6521	SLC4A1	ORPHA:822
HP:0002715	Abnormality of the immune system	6521	SLC4A1	OMIM:612653
HP:0002715	Abnormality of the immune system	6521	SLC4A1	ORPHA:3202
HP:0002715	Abnormality of the immune system	55532	SLC30A10	ORPHA:309854
HP:0002715	Abnormality of the immune system	857	CAV1	OMIM:612526
HP:0002715	Abnormality of the immune system	2038	EPB42	ORPHA:822
HP:0002715	Abnormality of the immune system	2038	EPB42	OMIM:612690
HP:0002715	Abnormality of the immune system	1352	COX10	OMIM:619046
HP:0002715	Abnormality of the immune system	6005	RHAG	OMIM:185000
HP:0002715	Abnormality of the immune system	6005	RHAG	ORPHA:3203
HP:0002715	Abnormality of the immune system	5699	PSMB10	OMIM:619175
HP:0002715	Abnormality of the immune system	8792	TNFRSF11A	OMIM:612301
HP:0002715	Abnormality of the immune system	23230	VPS13A	ORPHA:2388
HP:0002715	Abnormality of the immune system	3782	KCNN3	ORPHA:3473
HP:0002715	Abnormality of the immune system	80216	ALPK1	OMIM:614979
HP:0002715	Abnormality of the immune system	4069	LYZ	OMIM:105200
HP:0002715	Abnormality of the immune system	335	APOA1	OMIM:105200
HP:0002715	Abnormality of the immune system	5828	PEX2	OMIM:614866
HP:0002715	Abnormality of the immune system	8813	DPM1	OMIM:608799
HP:0002715	Abnormality of the immune system	50628	GEMIN4	OMIM:617913
HP:0002715	Abnormality of the immune system	57817	HAMP	OMIM:613313
HP:0002715	Abnormality of the immune system	84317	CCDC115	OMIM:616828
HP:0002715	Abnormality of the immune system	9780	PIEZO1	ORPHA:3202
HP:0002715	Abnormality of the immune system	9780	PIEZO1	OMIM:616843
HP:0002715	Abnormality of the immune system	9780	PIEZO1	OMIM:194380
HP:0002715	Abnormality of the immune system	64241	ABCG8	OMIM:210250
HP:0002715	Abnormality of the immune system	93183	PIGM	OMIM:610293
HP:0002715	Abnormality of the immune system	284119	CAVIN1	OMIM:613327
HP:0002715	Abnormality of the immune system	57410	SCYL1	OMIM:616719
HP:0002715	Abnormality of the immune system	56052	ALG1	OMIM:608540
HP:0002715	Abnormality of the immune system	91949	COG7	OMIM:608779
HP:0002715	Abnormality of the immune system	7167	TPI1	OMIM:615512
HP:0002715	Abnormality of the immune system	84529	CDIN1	OMIM:615631
HP:0002715	Abnormality of the immune system	6513	SLC2A1	OMIM:612126
HP:0002715	Abnormality of the immune system	6513	SLC2A1	OMIM:608885
HP:0002715	Abnormality of the immune system	11133	KPTN	OMIM:615637
HP:0002715	Abnormality of the immune system	669	BPGM	OMIM:222800
HP:0002715	Abnormality of the immune system	51218	GLRX5	OMIM:616860
HP:0002715	Abnormality of the immune system	6663	SOX10	ORPHA:163746
HP:0002715	Abnormality of the immune system	6578	SLCO2A1	ORPHA:2796
HP:0002715	Abnormality of the immune system	56623	INPP5E	ORPHA:1454
HP:0002715	Abnormality of the immune system	5873	RAB27A	ORPHA:79477
HP:0002715	Abnormality of the immune system	2328	FMO3	OMIM:602079
HP:0002715	Abnormality of the immune system	1718	DHCR24	ORPHA:35107
HP:0002715	Abnormality of the immune system	3098	HK1	OMIM:235700
HP:0002715	Abnormality of the immune system	3931	LCAT	ORPHA:79292
HP:0002715	Abnormality of the immune system	100506658	OCLN	OMIM:251290
HP:0002715	Abnormality of the immune system	2819	GPD1	OMIM:614480
HP:0002715	Abnormality of the immune system	10020	GNE	OMIM:269921
HP:0002715	Abnormality of the immune system	4724	NDUFS4	OMIM:252010
HP:0002715	Abnormality of the immune system	10464	PIBF1	OMIM:617767
HP:0002715	Abnormality of the immune system	2582	GALE	OMIM:230350
HP:0002715	Abnormality of the immune system	7547	ZIC3	OMIM:306955
HP:0002715	Abnormality of the immune system	2294	FOXF1	OMIM:265380
HP:0002715	Abnormality of the immune system	2294	FOXF1	ORPHA:210122
HP:0002715	Abnormality of the immune system	2657	GDF1	OMIM:208530
HP:0002715	Abnormality of the immune system	4087	SMAD2	OMIM:619657
HP:0002715	Abnormality of the immune system	284086	NEK8	OMIM:615415
HP:0002715	Abnormality of the immune system	7473	WNT3	OMIM:273395
HP:0002715	Abnormality of the immune system	53335	BCL11A	ORPHA:251380
HP:0002715	Abnormality of the immune system	10661	KLF1	ORPHA:251380
HP:0002715	Abnormality of the immune system	3047	HBG1	ORPHA:251380
HP:0002715	Abnormality of the immune system	3048	HBG2	ORPHA:251380
HP:0002715	Abnormality of the immune system	84314	TMEM107	ORPHA:564
HP:0002715	Abnormality of the immune system	79867	TCTN2	ORPHA:564
HP:0002715	Abnormality of the immune system	80776	B9D2	ORPHA:564
HP:0002715	Abnormality of the immune system	79600	TCTN1	ORPHA:564
HP:0002715	Abnormality of the immune system	57096	RPGRIP1	ORPHA:564
HP:0002715	Abnormality of the immune system	80184	CEP290	ORPHA:564
HP:0002715	Abnormality of the immune system	51259	TMEM216	ORPHA:564
HP:0002715	Abnormality of the immune system	57545	CC2D2A	ORPHA:564
HP:0002715	Abnormality of the immune system	79583	TMEM231	ORPHA:564
HP:0002715	Abnormality of the immune system	91147	TMEM67	ORPHA:564
HP:0002715	Abnormality of the immune system	79770	TXNDC15	ORPHA:564
HP:0002715	Abnormality of the immune system	27077	B9D1	ORPHA:564
HP:0002715	Abnormality of the immune system	23322	RPGRIP1L	ORPHA:564
HP:0002715	Abnormality of the immune system	54903	MKS1	ORPHA:564
HP:0002715	Abnormality of the immune system	54903	MKS1	OMIM:249000
HP:0002715	Abnormality of the immune system	65062	TMEM237	ORPHA:564
HP:0002715	Abnormality of the immune system	27031	NPHP3	OMIM:208540
HP:0002715	Abnormality of the immune system	90416	CCDC32	OMIM:619123
HP:0002715	Abnormality of the immune system	4613	MYCN	OMIM:164280
HP:0002715	Abnormality of the immune system	7291	TWIST1	OMIM:617746
HP:0002715	Abnormality of the immune system	55997	CFC1	OMIM:605376
HP:0002715	Abnormality of the immune system	3921	RPSA	OMIM:271400
HP:0002715	Abnormality of the immune system	63901	FAM111A	OMIM:602361
HP:0002715	Abnormality of the immune system	745	MYRF	OMIM:618280
HP:0002715	Abnormality of the immune system	157570	ESCO2	OMIM:268300
HP:0002715	Abnormality of the immune system	537	ATP6AP1	OMIM:300972
HP:0002715	Abnormality of the immune system	8425	LTBP4	OMIM:613177
HP:0002715	Abnormality of the immune system	55012	PPP2R3C	OMIM:618419
HP:0002715	Abnormality of the immune system	55770	EXOC2	OMIM:619306
HP:0002715	Abnormality of the immune system	53834	FGFRL1	OMIM:194190
HP:0002715	Abnormality of the immune system	1063	CENPF	OMIM:243605
HP:0002715	Abnormality of the immune system	219844	HYLS1	OMIM:236680
HP:0002715	Abnormality of the immune system	2239	GPC4	ORPHA:373
HP:0002715	Abnormality of the immune system	2239	GPC4	OMIM:312870
HP:0002715	Abnormality of the immune system	2719	GPC3	ORPHA:373
HP:0002715	Abnormality of the immune system	2719	GPC3	OMIM:312870
HP:0002715	Abnormality of the immune system	8565	YARS1	OMIM:619418
HP:0002715	Abnormality of the immune system	57539	WDR35	OMIM:613610
HP:0002715	Abnormality of the immune system	118856	MMP21	OMIM:616749
HP:0002715	Abnormality of the immune system	51715	RAB23	OMIM:201000
HP:0002715	Abnormality of the immune system	51715	RAB23	ORPHA:65759
HP:0002715	Abnormality of the immune system	1954	MEGF8	ORPHA:65759
HP:0002715	Abnormality of the immune system	9015	TAF1A	ORPHA:154
HP:0002715	Abnormality of the immune system	7112	TMPO	ORPHA:154
HP:0002715	Abnormality of the immune system	9464	HAND2	ORPHA:154
HP:0002715	Abnormality of the immune system	4625	MYH7	ORPHA:154
HP:0002715	Abnormality of the immune system	88	ACTN2	ORPHA:154
HP:0002715	Abnormality of the immune system	10486	CAP2	ORPHA:154
HP:0002715	Abnormality of the immune system	7168	TPM1	ORPHA:154
HP:0002715	Abnormality of the immune system	7414	VCL	ORPHA:154
HP:0002715	Abnormality of the immune system	1832	DSP	ORPHA:154
HP:0002715	Abnormality of the immune system	27063	ANKRD1	ORPHA:154
HP:0002715	Abnormality of the immune system	8048	CSRP3	ORPHA:154
HP:0002715	Abnormality of the immune system	1829	DSG2	ORPHA:154
HP:0002715	Abnormality of the immune system	3910	LAMA4	ORPHA:154
HP:0002715	Abnormality of the immune system	7273	TTN	ORPHA:154
HP:0002715	Abnormality of the immune system	9531	BAG3	ORPHA:154
HP:0002715	Abnormality of the immune system	5350	PLN	ORPHA:154
HP:0002715	Abnormality of the immune system	91624	NEXN	ORPHA:154
HP:0002715	Abnormality of the immune system	79717	PPCS	ORPHA:154
HP:0002715	Abnormality of the immune system	5664	PSEN2	ORPHA:154
HP:0002715	Abnormality of the immune system	9529	BAG5	ORPHA:154
HP:0002715	Abnormality of the immune system	4607	MYBPC3	ORPHA:154
HP:0002715	Abnormality of the immune system	282996	RBM20	ORPHA:154
HP:0002715	Abnormality of the immune system	11155	LDB3	ORPHA:154
HP:0002715	Abnormality of the immune system	2274	FHL2	ORPHA:154
HP:0002715	Abnormality of the immune system	1756	DMD	ORPHA:154
HP:0002715	Abnormality of the immune system	57798	GATAD1	ORPHA:154
HP:0002715	Abnormality of the immune system	7134	TNNC1	ORPHA:154
HP:0002715	Abnormality of the immune system	1674	DES	ORPHA:154
HP:0002715	Abnormality of the immune system	6444	SGCD	ORPHA:154
HP:0002715	Abnormality of the immune system	6331	SCN5A	ORPHA:154
HP:0002715	Abnormality of the immune system	2218	FKTN	ORPHA:154
HP:0002715	Abnormality of the immune system	8557	TCAP	ORPHA:154
HP:0002715	Abnormality of the immune system	23241	PACS2	OMIM:618067
HP:0002715	Abnormality of the immune system	4552	MTRR	ORPHA:2169
HP:0002715	Abnormality of the immune system	112812	FDX2	OMIM:251900
HP:0002715	Abnormality of the immune system	5826	ABCD4	OMIM:614857
HP:0002715	Abnormality of the immune system	326625	MMAB	OMIM:251110
HP:0002715	Abnormality of the immune system	166785	MMAA	OMIM:251100
HP:0002715	Abnormality of the immune system	150274	HSCB	OMIM:619523
HP:0002715	Abnormality of the immune system	2937	GSS	OMIM:266130
HP:0002715	Abnormality of the immune system	51567	TDP2	OMIM:616949
HP:0002715	Abnormality of the immune system	27429	HTRA2	OMIM:617248
HP:0002715	Abnormality of the immune system	5052	PRDX1	OMIM:277400
HP:0002715	Abnormality of the immune system	375748	ERCC6L2	OMIM:615715
HP:0002715	Abnormality of the immune system	55593	OTUD5	OMIM:301056
HP:0002715	Abnormality of the immune system	3516	RBPJ	ORPHA:974
HP:0002715	Abnormality of the immune system	57514	ARHGAP31	ORPHA:974
HP:0002715	Abnormality of the immune system	57572	DOCK6	ORPHA:974
HP:0002715	Abnormality of the immune system	285203	EOGT	ORPHA:974
HP:0002715	Abnormality of the immune system	23479	ISCU	OMIM:255125
HP:0002715	Abnormality of the immune system	157680	VPS13B	OMIM:216550
HP:0002715	Abnormality of the immune system	3712	IVD	OMIM:243500
HP:0002715	Abnormality of the immune system	54938	SARS2	OMIM:613845
HP:0002715	Abnormality of the immune system	22948	CCT5	OMIM:256840
HP:0002715	Abnormality of the immune system	22948	CCT5	ORPHA:139578
HP:0002715	Abnormality of the immune system	7879	RAB7A	OMIM:600882
HP:0002715	Abnormality of the immune system	54892	NCAPG2	OMIM:618460
HP:0002715	Abnormality of the immune system	80185	TTI2	ORPHA:391307
HP:0002715	Abnormality of the immune system	8879	SGPL1	OMIM:617575
HP:0002715	Abnormality of the immune system	7036	TFR2	OMIM:604250
HP:0002715	Abnormality of the immune system	2177	FANCD2	OMIM:227646
HP:0002715	Abnormality of the immune system	2176	FANCC	OMIM:227645
HP:0002715	Abnormality of the immune system	2189	FANCG	OMIM:614082
HP:0002715	Abnormality of the immune system	8294	H4C9	OMIM:619951
HP:0002715	Abnormality of the immune system	9401	RECQL4	ORPHA:221016
HP:0002715	Abnormality of the immune system	324	APC	ORPHA:99818
HP:0002715	Abnormality of the immune system	2065	ERBB3	OMIM:133180
HP:0002715	Abnormality of the immune system	5925	RB1	OMIM:180200
HP:0002715	Abnormality of the immune system	4292	MLH1	OMIM:276300
HP:0002715	Abnormality of the immune system	4193	MDM2	ORPHA:524
HP:0002715	Abnormality of the immune system	11200	CHEK2	ORPHA:524
HP:0002715	Abnormality of the immune system	2178	FANCE	OMIM:600901
HP:0002715	Abnormality of the immune system	2175	FANCA	OMIM:227650
HP:0002715	Abnormality of the immune system	256646	NUTM1	ORPHA:443167
HP:0002715	Abnormality of the immune system	51099	ABHD5	ORPHA:98907
HP:0002715	Abnormality of the immune system	6901	TAFAZZIN	OMIM:302060
HP:0002715	Abnormality of the immune system	6234	RPS28	OMIM:606164
HP:0002715	Abnormality of the immune system	26503	SLC17A5	OMIM:604369
HP:0002715	Abnormality of the immune system	26503	SLC17A5	OMIM:269920
HP:0002715	Abnormality of the immune system	5538	PPT1	OMIM:256730
HP:0002715	Abnormality of the immune system	1203	CLN5	OMIM:256731
HP:0002715	Abnormality of the immune system	1201	CLN3	OMIM:204200
HP:0002715	Abnormality of the immune system	1201	CLN3	ORPHA:228346
HP:0002715	Abnormality of the immune system	4758	NEU1	OMIM:256550
HP:0002715	Abnormality of the immune system	9968	MED12	OMIM:301068
HP:0002715	Abnormality of the immune system	7289	TULP3	OMIM:619902
HP:0002715	Abnormality of the immune system	3988	LIPA	OMIM:278000
HP:0002715	Abnormality of the immune system	4851	NOTCH1	OMIM:616028
HP:0002715	Abnormality of the immune system	199221	DZIP1L	ORPHA:731
HP:0002715	Abnormality of the immune system	3702	ITK	OMIM:613011
HP:0002715	Abnormality of the immune system	56259	CTNNBL1	OMIM:619846
HP:0002715	Abnormality of the immune system	2581	GALC	OMIM:245200
HP:0002715	Abnormality of the immune system	3689	ITGB2	OMIM:116920
HP:0002715	Abnormality of the immune system	27178	IL37	OMIM:619398
HP:0002715	Abnormality of the immune system	8573	CASK	OMIM:300908
HP:0002715	Abnormality of the immune system	2539	G6PD	OMIM:300908
HP:0002715	Abnormality of the immune system	8882	ZPR1	OMIM:619321
HP:0002715	Abnormality of the immune system	9663	LPIN2	ORPHA:77297
HP:0002715	Abnormality of the immune system	6773	STAT2	OMIM:618886
HP:0002715	Abnormality of the immune system	22852	ANKRD26	OMIM:188000
HP:0002715	Abnormality of the immune system	57167	SALL4	ORPHA:2307
HP:0002715	Abnormality of the immune system	57167	SALL4	OMIM:147750
HP:0002715	Abnormality of the immune system	1357	CPA1	ORPHA:676
HP:0002715	Abnormality of the immune system	10367	MICU1	OMIM:615673
HP:0002715	Abnormality of the immune system	83706	FERMT3	OMIM:612840
HP:0002715	Abnormality of the immune system	144811	LACC1	OMIM:618795
HP:0002715	Abnormality of the immune system	91662	NLRP12	OMIM:611762
HP:0002715	Abnormality of the immune system	38	ACAT1	ORPHA:134
HP:0002715	Abnormality of the immune system	9939	RBM8A	OMIM:274000
HP:0002715	Abnormality of the immune system	5371	PML	ORPHA:520
HP:0002715	Abnormality of the immune system	5914	RARA	ORPHA:520
HP:0002715	Abnormality of the immune system	81608	FIP1L1	ORPHA:520
HP:0002715	Abnormality of the immune system	64859	NABP1	ORPHA:520
HP:0002715	Abnormality of the immune system	6777	STAT5B	ORPHA:520
HP:0002715	Abnormality of the immune system	4926	NUMA1	ORPHA:520
HP:0002715	Abnormality of the immune system	7704	ZBTB16	ORPHA:520
HP:0002715	Abnormality of the immune system	79718	TBL1XR1	ORPHA:520
HP:0002715	Abnormality of the immune system	7187	TRAF3	ORPHA:1930
HP:0002715	Abnormality of the immune system	148022	TICAM1	ORPHA:1930
HP:0002715	Abnormality of the immune system	7098	TLR3	ORPHA:1930
HP:0002715	Abnormality of the immune system	29110	TBK1	ORPHA:1930
HP:0002715	Abnormality of the immune system	10577	NPC2	OMIM:607625
HP:0002715	Abnormality of the immune system	2720	GLB1	OMIM:230600
HP:0002715	Abnormality of the immune system	4864	NPC1	OMIM:257220
HP:0002715	Abnormality of the immune system	2165	F13B	ORPHA:331
HP:0002715	Abnormality of the immune system	2162	F13A1	ORPHA:331
HP:0002715	Abnormality of the immune system	3123	HLA-DRB1	OMIM:181000
HP:0002715	Abnormality of the immune system	55612	FERMT1	ORPHA:2908
HP:0002715	Abnormality of the immune system	331	XIAP	OMIM:300635
HP:0002715	Abnormality of the immune system	10616	RBCK1	OMIM:615895
HP:0002715	Abnormality of the immune system	5243	ABCB1	OMIM:612244
HP:0002715	Abnormality of the immune system	6550	SLC9A3	OMIM:616868
HP:0002715	Abnormality of the immune system	3257	HPS1	OMIM:203300
HP:0002715	Abnormality of the immune system	987	LRBA	OMIM:614700
HP:0002715	Abnormality of the immune system	7456	WIPF1	ORPHA:906
HP:0002715	Abnormality of the immune system	8737	RIPK1	OMIM:618108
HP:0002715	Abnormality of the immune system	4210	MEFV	ORPHA:3243
HP:0002715	Abnormality of the immune system	10095	ARPC1B	OMIM:617718
HP:0002715	Abnormality of the immune system	2542	SLC37A4	OMIM:232220
HP:0002715	Abnormality of the immune system	2542	SLC37A4	OMIM:232240
HP:0002715	Abnormality of the immune system	2542	SLC37A4	ORPHA:79259
HP:0002715	Abnormality of the immune system	3106	HLA-B	OMIM:106300
HP:0002715	Abnormality of the immune system	3106	HLA-B	ORPHA:29207
HP:0002715	Abnormality of the immune system	5293	PIK3CD	OMIM:619281
HP:0002715	Abnormality of the immune system	2000	ELF4	OMIM:301074
HP:0002715	Abnormality of the immune system	64127	NOD2	OMIM:266600
HP:0002715	Abnormality of the immune system	3569	IL6	OMIM:266600
HP:0002715	Abnormality of the immune system	57511	COG6	OMIM:614576
HP:0002715	Abnormality of the immune system	345611	IRGM	OMIM:612278
HP:0002715	Abnormality of the immune system	59067	IL21	OMIM:615767
HP:0002715	Abnormality of the immune system	64858	DCLRE1B	OMIM:620133
HP:0002715	Abnormality of the immune system	5297	PI4KA	OMIM:619708
HP:0002715	Abnormality of the immune system	411	ARSB	OMIM:253200
HP:0002715	Abnormality of the immune system	3909	LAMA3	ORPHA:79404
HP:0002715	Abnormality of the immune system	3918	LAMC2	ORPHA:79404
HP:0002715	Abnormality of the immune system	3914	LAMB3	ORPHA:79404
HP:0002715	Abnormality of the immune system	6720	SREBF1	OMIM:158310
HP:0002715	Abnormality of the immune system	10559	SLC35A1	ORPHA:238459
HP:0002715	Abnormality of the immune system	4125	MAN2B1	ORPHA:309282
HP:0002715	Abnormality of the immune system	4125	MAN2B1	ORPHA:309288
HP:0002715	Abnormality of the immune system	3459	IFNGR1	OMIM:209950
HP:0002715	Abnormality of the immune system	2188	FANCF	OMIM:603467
HP:0002715	Abnormality of the immune system	6445	SGCG	OMIM:253700
HP:0002715	Abnormality of the immune system	7852	CXCR4	ORPHA:51636
HP:0002715	Abnormality of the immune system	27019	DNAI1	OMIM:244400
HP:0002715	Abnormality of the immune system	57057	TBX20	ORPHA:99103
HP:0002715	Abnormality of the immune system	4624	MYH6	ORPHA:99103
HP:0002715	Abnormality of the immune system	1482	NKX2-5	ORPHA:99103
HP:0002715	Abnormality of the immune system	70	ACTC1	ORPHA:99103
HP:0002715	Abnormality of the immune system	10370	CITED2	ORPHA:99103
HP:0002715	Abnormality of the immune system	2626	GATA4	ORPHA:99103
HP:0002715	Abnormality of the immune system	2627	GATA6	ORPHA:99103
HP:0002715	Abnormality of the immune system	28962	OSTM1	ORPHA:85179
HP:0002715	Abnormality of the immune system	54914	FOCAD	OMIM:619991
HP:0002715	Abnormality of the immune system	64446	DNAI2	OMIM:612444
HP:0002715	Abnormality of the immune system	55343	SLC35C1	OMIM:266265
HP:0002715	Abnormality of the immune system	2215	FCGR3B	ORPHA:464370
HP:0002715	Abnormality of the immune system	775	CACNA1C	OMIM:601005
HP:0002715	Abnormality of the immune system	5903	RANBP2	OMIM:608033
HP:0002715	Abnormality of the immune system	37	ACADVL	ORPHA:26793
HP:0002715	Abnormality of the immune system	6850	SYK	OMIM:619381
HP:0002715	Abnormality of the immune system	345643	MCIDAS	OMIM:618695
HP:0002715	Abnormality of the immune system	80199	FUZ	ORPHA:1136
HP:0002715	Abnormality of the immune system	21	ABCA3	ORPHA:70587
HP:0002715	Abnormality of the immune system	6439	SFTPB	ORPHA:70587
HP:0002715	Abnormality of the immune system	4054	LTBP3	OMIM:617809
HP:0002715	Abnormality of the immune system	2811	GP1BA	ORPHA:274
HP:0002715	Abnormality of the immune system	2815	GP9	ORPHA:274
HP:0002715	Abnormality of the immune system	91754	NEK9	OMIM:614262
HP:0002715	Abnormality of the immune system	154	ADRB2	OMIM:600807
HP:0002715	Abnormality of the immune system	240	ALOX5	OMIM:600807
HP:0002715	Abnormality of the immune system	6356	CCL11	OMIM:600807
HP:0002715	Abnormality of the immune system	7124	TNF	OMIM:600807
HP:0002715	Abnormality of the immune system	3176	HNMT	OMIM:600807
HP:0002715	Abnormality of the immune system	4589	MUC7	OMIM:600807
HP:0002715	Abnormality of the immune system	117156	SCGB3A2	OMIM:600807
HP:0002715	Abnormality of the immune system	3135	HLA-G	OMIM:600807
HP:0002715	Abnormality of the immune system	3596	IL13	OMIM:600807
HP:0002715	Abnormality of the immune system	27125	AFF4	ORPHA:444077
HP:0002715	Abnormality of the immune system	9578	CDC42BPB	OMIM:619841
HP:0002715	Abnormality of the immune system	6812	STXBP1	ORPHA:495818
HP:0002715	Abnormality of the immune system	2782	GNB1	OMIM:616973
HP:0002715	Abnormality of the immune system	4953	ODC1	ORPHA:544488
HP:0002715	Abnormality of the immune system	2260	FGFR1	ORPHA:280200
HP:0002715	Abnormality of the immune system	28514	DLL1	ORPHA:280200
HP:0002715	Abnormality of the immune system	2253	FGF8	ORPHA:280200
HP:0002715	Abnormality of the immune system	6496	SIX3	ORPHA:280200
HP:0002715	Abnormality of the immune system	7050	TGIF1	ORPHA:280200
HP:0002715	Abnormality of the immune system	4838	NODAL	ORPHA:280200
HP:0002715	Abnormality of the immune system	6469	SHH	ORPHA:280200
HP:0002715	Abnormality of the immune system	51684	SUFU	ORPHA:280200
HP:0002715	Abnormality of the immune system	7546	ZIC2	ORPHA:280200
HP:0002715	Abnormality of the immune system	2619	GAS1	ORPHA:280200
HP:0002715	Abnormality of the immune system	84976	DISP1	ORPHA:280200
HP:0002715	Abnormality of the immune system	2736	GLI2	ORPHA:280200
HP:0002715	Abnormality of the immune system	8928	FOXH1	ORPHA:280200
HP:0002715	Abnormality of the immune system	5727	PTCH1	ORPHA:280200
HP:0002715	Abnormality of the immune system	50937	CDON	ORPHA:280200
HP:0002715	Abnormality of the immune system	2212	FCGR2A	OMIM:219700
HP:0002715	Abnormality of the immune system	57589	RIC1	OMIM:618761
HP:0002715	Abnormality of the immune system	84100	ARL6	OMIM:209900
HP:0002715	Abnormality of the immune system	79140	CCDC28B	OMIM:209900
HP:0002715	Abnormality of the immune system	582	BBS1	OMIM:209900
HP:0002715	Abnormality of the immune system	51428	DDX41	OMIM:616871
HP:0002715	Abnormality of the immune system	2475	MTOR	ORPHA:457485
HP:0002715	Abnormality of the immune system	93627	TBCK	ORPHA:488632
HP:0002715	Abnormality of the immune system	2783	GNB2	OMIM:619503
HP:0002715	Abnormality of the immune system	6785	ELOVL4	OMIM:614457
HP:0002715	Abnormality of the immune system	54888	NSUN2	ORPHA:235
HP:0002715	Abnormality of the immune system	26160	IFT172	OMIM:619471
HP:0002715	Abnormality of the immune system	7874	USP7	ORPHA:500055
HP:0002715	Abnormality of the immune system	10526	IPO8	OMIM:619472
HP:0002715	Abnormality of the immune system	6329	SCN4A	ORPHA:99735
HP:0002715	Abnormality of the immune system	2312	FLG	OMIM:146700
HP:0002715	Abnormality of the immune system	79796	ALG9	ORPHA:79328
HP:0002715	Abnormality of the immune system	374879	ZNF699	OMIM:619488
HP:0002715	Abnormality of the immune system	3481	IGF2	ORPHA:397590
HP:0002715	Abnormality of the immune system	1028	CDKN1C	ORPHA:397590
HP:0002715	Abnormality of the immune system	5324	PLAG1	ORPHA:397590
HP:0002715	Abnormality of the immune system	8091	HMGA2	ORPHA:397590
HP:0002715	Abnormality of the immune system	55717	WDR11	OMIM:620237
HP:0002715	Abnormality of the immune system	10551	AGR2	OMIM:620233
HP:0002715	Abnormality of the immune system	55898	UNC45A	OMIM:619377
HP:0002715	Abnormality of the immune system	3423	IDS	OMIM:309900
HP:0002715	Abnormality of the immune system	3977	LIFR	ORPHA:3206
HP:0002715	Abnormality of the immune system	79977	GRHL2	OMIM:616029
HP:0002715	Abnormality of the immune system	2678	GGT1	OMIM:231950
HP:0002715	Abnormality of the immune system	375056	MIA3	OMIM:619269
HP:0002715	Abnormality of the immune system	6888	TALDO1	OMIM:606003
HP:0002715	Abnormality of the immune system	3476	IGBP1	OMIM:300472
HP:0002715	Abnormality of the immune system	535	ATP6V0A1	OMIM:619971
HP:0002715	Abnormality of the immune system	4281	MID1	ORPHA:2745
HP:0002715	Abnormality of the immune system	29957	SLC25A24	OMIM:612289
HP:0002715	Abnormality of the immune system	9361	LONP1	ORPHA:79243
HP:0002715	Abnormality of the immune system	5160	PDHA1	ORPHA:79243
HP:0002715	Abnormality of the immune system	378884	NHLRC1	ORPHA:501
HP:0002715	Abnormality of the immune system	7957	EPM2A	ORPHA:501
HP:0002715	Abnormality of the immune system	4842	NOS1	ORPHA:930
HP:0002715	Abnormality of the immune system	10755	GIPC1	ORPHA:98897
HP:0002715	Abnormality of the immune system	100996717	NOTCH2NLC	ORPHA:98897
HP:0002715	Abnormality of the immune system	8367	H4C5	OMIM:619950
HP:0002715	Abnormality of the immune system	5393	EXOSC9	OMIM:618065
HP:0002715	Abnormality of the immune system	5631	PRPS1	ORPHA:411543
HP:0002715	Abnormality of the immune system	10054	UBA2	OMIM:619959
HP:0002715	Abnormality of the immune system	5880	RAC2	OMIM:618986
HP:0002715	Abnormality of the immune system	5880	RAC2	OMIM:618987
HP:0002715	Abnormality of the immune system	7360	UGP2	OMIM:618744
HP:0002715	Abnormality of the immune system	128178	EDARADD	OMIM:614941
HP:0002715	Abnormality of the immune system	345895	RSPH4A	OMIM:612649
HP:0002715	Abnormality of the immune system	1131	CHRM3	ORPHA:2970
HP:0002715	Abnormality of the immune system	79848	CSPP1	ORPHA:397715
HP:0002715	Abnormality of the immune system	9786	KIAA0586	ORPHA:397715
HP:0002715	Abnormality of the immune system	5354	PLP1	ORPHA:99015
HP:0002715	Abnormality of the immune system	161582	DNAAF4	OMIM:615482
HP:0002715	Abnormality of the immune system	249	ALPL	OMIM:241500
HP:0002715	Abnormality of the immune system	1399	CRKL	ORPHA:261330
HP:0002715	Abnormality of the immune system	5594	MAPK1	ORPHA:261330
HP:0002715	Abnormality of the immune system	51506	UFC1	OMIM:618076
HP:0002715	Abnormality of the immune system	283489	CHAMP1	OMIM:616579
HP:0002715	Abnormality of the immune system	221421	RSPH9	OMIM:612650
HP:0002715	Abnormality of the immune system	65082	VPS33A	OMIM:617303
HP:0002715	Abnormality of the immune system	65082	VPS33A	ORPHA:505248
HP:0002715	Abnormality of the immune system	25782	RAB3GAP2	OMIM:212720
HP:0002715	Abnormality of the immune system	5818	NECTIN1	ORPHA:3253
HP:0002715	Abnormality of the immune system	55768	NGLY1	ORPHA:404454
HP:0002715	Abnormality of the immune system	55768	NGLY1	OMIM:615273
HP:0002715	Abnormality of the immune system	1536	CYBB	ORPHA:379
HP:0002715	Abnormality of the immune system	4688	NCF2	ORPHA:379
HP:0002715	Abnormality of the immune system	1535	CYBA	ORPHA:379
HP:0002715	Abnormality of the immune system	4689	NCF4	ORPHA:379
HP:0002715	Abnormality of the immune system	653361	NCF1	ORPHA:379
HP:0002715	Abnormality of the immune system	653361	NCF1	ORPHA:904
HP:0002715	Abnormality of the immune system	79415	CYBC1	ORPHA:379
HP:0002715	Abnormality of the immune system	54	ACP5	OMIM:607944
HP:0002715	Abnormality of the immune system	57492	ARID1B	OMIM:135900
HP:0002715	Abnormality of the immune system	284058	KANSL1	ORPHA:363958
HP:0002715	Abnormality of the immune system	284058	KANSL1	ORPHA:363965
HP:0002715	Abnormality of the immune system	6261	RYR1	OMIM:255320
HP:0002715	Abnormality of the immune system	6261	RYR1	ORPHA:424107
HP:0002715	Abnormality of the immune system	6261	RYR1	ORPHA:98905
HP:0002715	Abnormality of the immune system	9326	ZNHIT3	ORPHA:2836
HP:0002715	Abnormality of the immune system	547	KIF1A	ORPHA:2836
HP:0002715	Abnormality of the immune system	3572	IL6ST	OMIM:618523
HP:0002715	Abnormality of the immune system	340061	STING1	OMIM:615934
HP:0002715	Abnormality of the immune system	64359	NXN	ORPHA:1507
HP:0002715	Abnormality of the immune system	4920	ROR2	ORPHA:1507
HP:0002715	Abnormality of the immune system	7080	NKX2-1	ORPHA:209905
HP:0002715	Abnormality of the immune system	7080	NKX2-1	OMIM:610978
HP:0002715	Abnormality of the immune system	100303755	PET117	OMIM:619063
HP:0002715	Abnormality of the immune system	10815	CPLX1	ORPHA:280
HP:0002715	Abnormality of the immune system	54872	PIGG	ORPHA:280
HP:0002715	Abnormality of the immune system	7469	NELFA	ORPHA:280
HP:0002715	Abnormality of the immune system	1487	CTBP1	ORPHA:280
HP:0002715	Abnormality of the immune system	3954	LETM1	ORPHA:280
HP:0002715	Abnormality of the immune system	7468	NSD2	ORPHA:280
HP:0002715	Abnormality of the immune system	57190	SELENON	ORPHA:2020
HP:0002715	Abnormality of the immune system	58	ACTA1	ORPHA:2020
HP:0002715	Abnormality of the immune system	4633	MYL2	ORPHA:2020
HP:0002715	Abnormality of the immune system	3679	ITGA7	ORPHA:2020
HP:0002715	Abnormality of the immune system	7169	TPM2	ORPHA:2020
HP:0002715	Abnormality of the immune system	9200	HACD1	ORPHA:2020
HP:0002715	Abnormality of the immune system	7170	TPM3	ORPHA:2020
HP:0002715	Abnormality of the immune system	51776	MAP3K20	ORPHA:2020
HP:0002715	Abnormality of the immune system	567	B2M	OMIM:241600
HP:0002715	Abnormality of the immune system	79813	EHMT1	OMIM:610253
HP:0002715	Abnormality of the immune system	1789	DNMT3B	ORPHA:2268
HP:0002715	Abnormality of the immune system	9841	ZBTB24	ORPHA:2268
HP:0002715	Abnormality of the immune system	2752	GLUL	OMIM:610015
HP:0002715	Abnormality of the immune system	3425	IDUA	OMIM:607014
HP:0002715	Abnormality of the immune system	3425	IDUA	OMIM:607015
HP:0002715	Abnormality of the immune system	3425	IDUA	ORPHA:93473
HP:0002715	Abnormality of the immune system	175	AGA	ORPHA:93
HP:0002715	Abnormality of the immune system	175	AGA	OMIM:208400
HP:0002715	Abnormality of the immune system	2214	FCGR3A	OMIM:615707
HP:0002715	Abnormality of the immune system	4853	NOTCH2	ORPHA:955
HP:0002715	Abnormality of the immune system	113278	SLC52A3	OMIM:211530
HP:0002715	Abnormality of the immune system	7092	TLL1	ORPHA:99106
HP:0002715	Abnormality of the immune system	4534	MTM1	ORPHA:596
HP:0002715	Abnormality of the immune system	330	BIRC3	ORPHA:52417
HP:0002715	Abnormality of the immune system	27086	FOXP1	ORPHA:52417
HP:0002715	Abnormality of the immune system	3492	IGH	ORPHA:52417
HP:0002715	Abnormality of the immune system	8915	BCL10	ORPHA:52417
HP:0002715	Abnormality of the immune system	10043	TOM1	OMIM:619510
HP:0002715	Abnormality of the immune system	83861	RSPH3	OMIM:616481
HP:0002715	Abnormality of the immune system	55773	TBC1D23	OMIM:617695
HP:0002715	Abnormality of the immune system	9508	ADAMTS3	ORPHA:2136
HP:0002715	Abnormality of the immune system	147372	CCBE1	ORPHA:2136
HP:0002715	Abnormality of the immune system	79633	FAT4	ORPHA:2136
HP:0002715	Abnormality of the immune system	6804	STX1A	ORPHA:904
HP:0002715	Abnormality of the immune system	6804	STX1A	ORPHA:586
HP:0002715	Abnormality of the immune system	7461	CLIP2	ORPHA:904
HP:0002715	Abnormality of the immune system	84277	DNAJC30	ORPHA:904
HP:0002715	Abnormality of the immune system	8468	FKBP6	ORPHA:904
HP:0002715	Abnormality of the immune system	5982	RFC2	ORPHA:904
HP:0002715	Abnormality of the immune system	2969	GTF2I	ORPHA:904
HP:0002715	Abnormality of the immune system	3984	LIMK1	ORPHA:904
HP:0002715	Abnormality of the immune system	9569	GTF2IRD1	ORPHA:904
HP:0002715	Abnormality of the immune system	155382	VPS37D	ORPHA:904
HP:0002715	Abnormality of the immune system	155368	METTL27	ORPHA:904
HP:0002715	Abnormality of the immune system	114049	BUD23	ORPHA:904
HP:0002715	Abnormality of the immune system	7458	EIF4H	ORPHA:904
HP:0002715	Abnormality of the immune system	84163	GTF2IRD2	ORPHA:904
HP:0002715	Abnormality of the immune system	9275	BCL7B	ORPHA:904
HP:0002715	Abnormality of the immune system	26608	TBL2	ORPHA:904
HP:0002715	Abnormality of the immune system	135886	TMEM270	ORPHA:904
HP:0002715	Abnormality of the immune system	51085	MLXIPL	ORPHA:904
HP:0002715	Abnormality of the immune system	9031	BAZ1B	ORPHA:904
HP:0002715	Abnormality of the immune system	2006	ELN	ORPHA:904
HP:0002715	Abnormality of the immune system	8364	H4C3	OMIM:619758
HP:0002715	Abnormality of the immune system	11128	POLR3A	OMIM:264090
HP:0002715	Abnormality of the immune system	3675	ITGA3	OMIM:614748
HP:0002715	Abnormality of the immune system	8085	KMT2D	OMIM:620186
HP:0002715	Abnormality of the immune system	415	ARSL	ORPHA:79345
HP:0002715	Abnormality of the immune system	6609	SMPD1	OMIM:257200
HP:0002715	Abnormality of the immune system	6609	SMPD1	OMIM:607616
HP:0002715	Abnormality of the immune system	472	ATM	ORPHA:100
HP:0002715	Abnormality of the immune system	2990	GUSB	ORPHA:584
HP:0002715	Abnormality of the immune system	2947	GSTM3	ORPHA:586
HP:0002715	Abnormality of the immune system	7040	TGFB1	ORPHA:586
HP:0002715	Abnormality of the immune system	7040	TGFB1	OMIM:618213
HP:0002715	Abnormality of the immune system	2729	GCLC	ORPHA:586
HP:0002715	Abnormality of the immune system	1084	CEACAM3	ORPHA:586
HP:0002715	Abnormality of the immune system	6556	SLC11A1	ORPHA:586
HP:0002715	Abnormality of the immune system	51164	DCTN4	ORPHA:586
HP:0002715	Abnormality of the immune system	3783	KCNN4	ORPHA:586
HP:0002715	Abnormality of the immune system	4282	MIF	ORPHA:586
HP:0002715	Abnormality of the immune system	1909	EDNRA	ORPHA:586
HP:0002715	Abnormality of the immune system	115019	SLC26A9	ORPHA:586
HP:0002715	Abnormality of the immune system	3077	HFE	ORPHA:586
HP:0002715	Abnormality of the immune system	11254	SLC6A14	ORPHA:586
HP:0002715	Abnormality of the immune system	5265	SERPINA1	ORPHA:586
HP:0002715	Abnormality of the immune system	1080	CFTR	ORPHA:586
HP:0002715	Abnormality of the immune system	22802	CLCA4	ORPHA:586
HP:0002715	Abnormality of the immune system	4680	CEACAM6	ORPHA:586
HP:0002715	Abnormality of the immune system	4644	MYO5A	ORPHA:33445
HP:0002715	Abnormality of the immune system	9321	TRIP11	OMIM:184260
HP:0002715	Abnormality of the immune system	8481	OFD1	OMIM:300209
HP:0002715	Abnormality of the immune system	4256	MGP	ORPHA:85202
HP:0002715	Abnormality of the immune system	2316	FLNA	ORPHA:2484
HP:0002715	Abnormality of the immune system	2316	FLNA	OMIM:309350
HP:0002715	Abnormality of the immune system	9772	TMEM94	OMIM:618316
HP:0002715	Abnormality of the immune system	9338	TCEAL1	OMIM:301094
HP:0002715	Abnormality of the immune system	26154	ABCA12	ORPHA:457
HP:0002715	Abnormality of the immune system	26154	ABCA12	ORPHA:313
HP:0002715	Abnormality of the immune system	85452	CFAP74	OMIM:620197
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:98754
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177904
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177901
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177907
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:98754
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:177904
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:177901
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:98754
HP:0002715	Abnormality of the immune system	54551	MAGEL2	OMIM:176270
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:177904
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:177901
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:398069
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:98754
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:177904
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:177901
HP:0002715	Abnormality of the immune system	145873	MESP2	OMIM:608681
HP:0002715	Abnormality of the immune system	145873	MESP2	OMIM:277300
HP:0002715	Abnormality of the immune system	8242	KDM5C	OMIM:300534
HP:0002715	Abnormality of the immune system	197258	FCSK	OMIM:618324
HP:0002715	Abnormality of the immune system	79989	IFT56	OMIM:619534
HP:0002715	Abnormality of the immune system	84522	JAGN1	OMIM:616022
HP:0002715	Abnormality of the immune system	7994	KAT6A	OMIM:616268
HP:0002715	Abnormality of the immune system	23219	FBXO28	OMIM:619777
HP:0002715	Abnormality of the immune system	51322	WAC	ORPHA:466950
HP:0002715	Abnormality of the immune system	6509	SLC1A4	ORPHA:447997
HP:0002715	Abnormality of the immune system	79087	ALG12	ORPHA:79324
HP:0002715	Abnormality of the immune system	6595	SMARCA2	OMIM:601358
HP:0002715	Abnormality of the immune system	2629	GBA1	ORPHA:77261
HP:0002715	Abnormality of the immune system	2629	GBA1	ORPHA:77260
HP:0002715	Abnormality of the immune system	9742	IFT140	OMIM:266920
HP:0002715	Abnormality of the immune system	93233	ODAD1	OMIM:615067
HP:0002715	Abnormality of the immune system	56683	CFAP298	OMIM:615500
HP:0002715	Abnormality of the immune system	115948	ODAD3	OMIM:616037
HP:0002715	Abnormality of the immune system	85478	CCDC65	OMIM:615504
HP:0002715	Abnormality of the immune system	7227	TRPS1	OMIM:190350
HP:0002715	Abnormality of the immune system	6674	SPAG1	OMIM:615505
HP:0002715	Abnormality of the immune system	51053	GMNN	OMIM:616835
HP:0002715	Abnormality of the immune system	7319	UBE2A	ORPHA:163956
HP:0002715	Abnormality of the immune system	5062	PAK2	OMIM:618458
HP:0002715	Abnormality of the immune system	51314	NME8	OMIM:610852
HP:0002715	Abnormality of the immune system	79751	SLC25A22	ORPHA:1935
HP:0002715	Abnormality of the immune system	150094	SIK1	ORPHA:1935
HP:0002715	Abnormality of the immune system	5830	PEX5	OMIM:616716
HP:0002715	Abnormality of the immune system	219285	SAMD9L	ORPHA:2585
HP:0002715	Abnormality of the immune system	4126	MANBA	ORPHA:118
HP:0002715	Abnormality of the immune system	1288	COL4A6	ORPHA:1018
HP:0002715	Abnormality of the immune system	1287	COL4A5	ORPHA:1018
HP:0002715	Abnormality of the immune system	139212	DNAAF6	OMIM:300991
HP:0002715	Abnormality of the immune system	89891	DYNC2I2	OMIM:615633
HP:0002715	Abnormality of the immune system	10806	SDCCAG8	OMIM:615993
HP:0002715	Abnormality of the immune system	10309	CCNO	OMIM:615872
HP:0002715	Abnormality of the immune system	23394	ADNP	OMIM:615873
HP:0002715	Abnormality of the immune system	8818	DPM2	ORPHA:329178
HP:0002715	Abnormality of the immune system	113235	SLC46A1	ORPHA:90045
HP:0002715	Abnormality of the immune system	7681	MKRN3	OMIM:176270
HP:0002715	Abnormality of the immune system	3653	IPW	OMIM:176270
HP:0002715	Abnormality of the immune system	791114	PWRN1	OMIM:176270
HP:0002715	Abnormality of the immune system	100033413	SNORD116-1	OMIM:176270
HP:0002715	Abnormality of the immune system	8924	HERC2	OMIM:176270
HP:0002715	Abnormality of the immune system	145624	PWAR1	OMIM:176270
HP:0002715	Abnormality of the immune system	23742	NPAP1	OMIM:176270
HP:0002715	Abnormality of the immune system	338433	SNORD115-1	OMIM:176270
HP:0002715	Abnormality of the immune system	1186	CLCN7	ORPHA:667
HP:0002715	Abnormality of the immune system	29887	SNX10	ORPHA:667
HP:0002715	Abnormality of the immune system	8600	TNFSF11	ORPHA:667
HP:0002715	Abnormality of the immune system	7372	UMPS	ORPHA:30
HP:0002715	Abnormality of the immune system	54768	HYDIN	OMIM:608647
HP:0002715	Abnormality of the immune system	57379	AICDA	OMIM:605258
HP:0002715	Abnormality of the immune system	1387	CREBBP	ORPHA:353281
HP:0002715	Abnormality of the immune system	1387	CREBBP	ORPHA:353277
HP:0002715	Abnormality of the immune system	23114	NFASC	OMIM:618356
HP:0002715	Abnormality of the immune system	4792	NFKBIA	OMIM:612132
HP:0002715	Abnormality of the immune system	6606	SMN1	OMIM:253550
HP:0002715	Abnormality of the immune system	6606	SMN1	OMIM:253300
HP:0002715	Abnormality of the immune system	6905	TBCE	ORPHA:2323
HP:0002715	Abnormality of the immune system	83479	DDX59	OMIM:174300
HP:0002715	Abnormality of the immune system	6492	SIM1	ORPHA:398079
HP:0002715	Abnormality of the immune system	388389	CCDC103	OMIM:614679
HP:0002715	Abnormality of the immune system	5660	PSAP	ORPHA:139406
HP:0002715	Abnormality of the immune system	2033	EP300	ORPHA:353284
HP:0002715	Abnormality of the immune system	7248	TSC1	ORPHA:538
HP:0002715	Abnormality of the immune system	7249	TSC2	ORPHA:538
HP:0002715	Abnormality of the immune system	1767	DNAH5	OMIM:608644
HP:0002715	Abnormality of the immune system	10683	DLL3	OMIM:277300
HP:0002715	Abnormality of the immune system	4952	OCRL	ORPHA:534
HP:0002715	Abnormality of the immune system	4068	SH2D1A	OMIM:308240
HP:0002715	Abnormality of the immune system	427	ASAH1	OMIM:159950
HP:0002715	Abnormality of the immune system	79158	GNPTAB	ORPHA:576
HP:0002715	Abnormality of the immune system	57551	TAOK1	OMIM:619575
HP:0002715	Abnormality of the immune system	4621	MYH3	OMIM:193700
HP:0002715	Abnormality of the immune system	3394	IRF8	OMIM:226990
HP:0002715	Abnormality of the immune system	6335	SCN9A	ORPHA:90026
HP:0002715	Abnormality of the immune system	11280	SCN11A	ORPHA:90026
HP:0002715	Abnormality of the immune system	6336	SCN10A	ORPHA:90026
HP:0002715	Abnormality of the immune system	6774	STAT3	ORPHA:2314
HP:0002715	Abnormality of the immune system	54970	TTC12	OMIM:618801
HP:0002715	Abnormality of the immune system	55764	IFT122	OMIM:218330
HP:0002715	Abnormality of the immune system	7703	PCGF2	OMIM:618371
HP:0002715	Abnormality of the immune system	774	CACNA1B	OMIM:618497
HP:0002715	Abnormality of the immune system	4478	MSN	OMIM:300988
HP:0002715	Abnormality of the immune system	7161	TP73	OMIM:619466
HP:0002715	Abnormality of the immune system	254428	SLC41A1	OMIM:619468
HP:0002715	Abnormality of the immune system	51300	TIMMDC1	OMIM:618251
HP:0002715	Abnormality of the immune system	8802	SUCLG1	ORPHA:17
HP:0002715	Abnormality of the immune system	146206	CARMIL2	OMIM:618131
HP:0002715	Abnormality of the immune system	84818	IL17RC	ORPHA:1334
HP:0002715	Abnormality of the immune system	64581	CLEC7A	ORPHA:1334
HP:0002715	Abnormality of the immune system	112744	IL17F	ORPHA:1334
HP:0002715	Abnormality of the immune system	860	RUNX2	ORPHA:1452
HP:0002715	Abnormality of the immune system	25839	COG4	OMIM:613489
HP:0002715	Abnormality of the immune system	23495	TNFRSF13B	ORPHA:1572
HP:0002715	Abnormality of the immune system	4790	NFKB1	ORPHA:1572
HP:0002715	Abnormality of the immune system	115650	TNFRSF13C	ORPHA:1572
HP:0002715	Abnormality of the immune system	1380	CR2	ORPHA:1572
HP:0002715	Abnormality of the immune system	1380	CR2	OMIM:614699
HP:0002715	Abnormality of the immune system	8742	TNFSF12	ORPHA:1572
HP:0002715	Abnormality of the immune system	930	CD19	ORPHA:1572
HP:0002715	Abnormality of the immune system	930	CD19	OMIM:613493
HP:0002715	Abnormality of the immune system	29851	ICOS	ORPHA:1572
HP:0002715	Abnormality of the immune system	931	MS4A1	ORPHA:1572
HP:0002715	Abnormality of the immune system	931	MS4A1	OMIM:613495
HP:0002715	Abnormality of the immune system	8883	NAE1	OMIM:620210
HP:0002715	Abnormality of the immune system	151516	ASPRV1	ORPHA:313
HP:0002715	Abnormality of the immune system	242	ALOX12B	ORPHA:313
HP:0002715	Abnormality of the immune system	126410	CYP4F22	ORPHA:313
HP:0002715	Abnormality of the immune system	6820	SULT2B1	ORPHA:313
HP:0002715	Abnormality of the immune system	643418	LIPN	ORPHA:313
HP:0002715	Abnormality of the immune system	59344	ALOXE3	ORPHA:313
HP:0002715	Abnormality of the immune system	348938	NIPAL4	ORPHA:313
HP:0002715	Abnormality of the immune system	121214	SDR9C7	ORPHA:313
HP:0002715	Abnormality of the immune system	7051	TGM1	ORPHA:313
HP:0002715	Abnormality of the immune system	55036	CCDC40	OMIM:613808
HP:0002715	Abnormality of the immune system	1075	CTSC	ORPHA:678
HP:0002715	Abnormality of the immune system	339829	CCDC39	OMIM:613807
HP:0002715	Abnormality of the immune system	8943	AP3D1	OMIM:617050
HP:0002715	Abnormality of the immune system	2517	FUCA1	OMIM:230000
HP:0002715	Abnormality of the immune system	2548	GAA	OMIM:232300
HP:0002715	Abnormality of the immune system	84665	MYPN	ORPHA:75249
HP:0002715	Abnormality of the immune system	2318	FLNC	ORPHA:75249
HP:0002715	Abnormality of the immune system	7139	TNNT2	ORPHA:75249
HP:0002715	Abnormality of the immune system	7137	TNNI3	ORPHA:75249
HP:0002715	Abnormality of the immune system	10112	KIF20A	ORPHA:75249
HP:0002715	Abnormality of the immune system	1836	SLC26A2	ORPHA:628
HP:0002715	Abnormality of the immune system	5184	PEPD	ORPHA:742
HP:0002715	Abnormality of the immune system	3636	INPPL1	OMIM:258480
HP:0002715	Abnormality of the immune system	3636	INPPL1	ORPHA:2746
HP:0002715	Abnormality of the immune system	2077	ERF	OMIM:617180
HP:0002715	Abnormality of the immune system	3845	KRAS	OMIM:614470
HP:0002715	Abnormality of the immune system	4893	NRAS	OMIM:614470
HP:0002715	Abnormality of the immune system	374354	NHLRC2	OMIM:618278
HP:0002715	Abnormality of the immune system	55617	TASP1	OMIM:618950
HP:0002715	Abnormality of the immune system	8239	USP9X	OMIM:300968
HP:0002715	Abnormality of the immune system	51124	IER3IP1	OMIM:614231
HP:0002715	Abnormality of the immune system	57477	SHROOM4	ORPHA:85288
HP:0002715	Abnormality of the immune system	84340	GFM2	OMIM:618397
HP:0002715	Abnormality of the immune system	10398	MYL9	OMIM:619365
HP:0002715	Abnormality of the immune system	10293	TRAIP	OMIM:616777
HP:0002715	Abnormality of the immune system	6911	TBX6	ORPHA:1797
HP:0002715	Abnormality of the immune system	11005	SPINK5	OMIM:256500
HP:0002715	Abnormality of the immune system	11005	SPINK5	ORPHA:634
HP:0002715	Abnormality of the immune system	51364	ZMYND10	OMIM:615444
HP:0002715	Abnormality of the immune system	2890	GRIA1	OMIM:619927
HP:0002715	Abnormality of the immune system	50615	IL21R	OMIM:615207
HP:0002715	Abnormality of the immune system	60482	SLC5A7	ORPHA:98914
HP:0002715	Abnormality of the immune system	4649	MYO9A	ORPHA:98914
HP:0002715	Abnormality of the immune system	1305	COL13A1	ORPHA:98914
HP:0002715	Abnormality of the immune system	1103	CHAT	ORPHA:98914
HP:0002715	Abnormality of the immune system	6576	SLC25A1	ORPHA:98914
HP:0002715	Abnormality of the immune system	6843	VAMP1	ORPHA:98914
HP:0002715	Abnormality of the immune system	375790	AGRN	ORPHA:98914
HP:0002715	Abnormality of the immune system	127833	SYT2	ORPHA:98914
HP:0002715	Abnormality of the immune system	6572	SLC18A3	ORPHA:98914
HP:0002715	Abnormality of the immune system	6616	SNAP25	ORPHA:98914
HP:0002715	Abnormality of the immune system	6337	SCNN1A	OMIM:264350
HP:0002715	Abnormality of the immune system	1893	ECM1	ORPHA:530
HP:0002715	Abnormality of the immune system	9895	TECPR2	ORPHA:320385
HP:0002715	Abnormality of the immune system	4938	OAS1	OMIM:618042
HP:0002715	Abnormality of the immune system	738	VPS51	OMIM:618606
HP:0002715	Abnormality of the immune system	5116	PCNT	ORPHA:2637
HP:0002715	Abnormality of the immune system	5430	POLR2A	OMIM:618603
HP:0002715	Abnormality of the immune system	23522	KAT6B	ORPHA:3047
HP:0002715	Abnormality of the immune system	26123	TCTN3	ORPHA:2753
HP:0002715	Abnormality of the immune system	10516	FBLN5	OMIM:219100
HP:0002715	Abnormality of the immune system	9897	WASHC5	ORPHA:7
HP:0002715	Abnormality of the immune system	28952	CCDC22	ORPHA:7
HP:0002715	Abnormality of the immune system	4204	MECP2	OMIM:300260
HP:0002715	Abnormality of the immune system	129285	PPP1R21	OMIM:619383
HP:0002715	Abnormality of the immune system	406932	MIR140	OMIM:618618
HP:0002715	Abnormality of the immune system	25871	NEPRO	OMIM:618853
HP:0002715	Abnormality of the immune system	352909	DNAAF3	OMIM:606763
HP:0002715	Abnormality of the immune system	23639	DNAAF11	OMIM:614935
HP:0002715	Abnormality of the immune system	9325	TRIP4	ORPHA:486815
HP:0002715	Abnormality of the immune system	54968	TMEM70	ORPHA:1194
HP:0002715	Abnormality of the immune system	340024	SLC6A19	ORPHA:2116
HP:0002715	Abnormality of the immune system	57393	CLTRN	ORPHA:2116
HP:0002715	Abnormality of the immune system	79944	L2HGDH	ORPHA:79314
HP:0002715	Abnormality of the immune system	5566	PRKACA	ORPHA:289
HP:0002715	Abnormality of the immune system	5567	PRKACB	ORPHA:289
HP:0002715	Abnormality of the immune system	2735	GLI1	ORPHA:289
HP:0002715	Abnormality of the immune system	2121	EVC	ORPHA:289
HP:0002715	Abnormality of the immune system	51626	DYNC2LI1	ORPHA:289
HP:0002715	Abnormality of the immune system	132884	EVC2	ORPHA:289
HP:0002715	Abnormality of the immune system	546	ATRX	ORPHA:231401
HP:0002715	Abnormality of the immune system	7157	TP53	OMIM:151623
HP:0002715	Abnormality of the immune system	7157	TP53	ORPHA:3318
HP:0002715	Abnormality of the immune system	10019	SH2B3	ORPHA:3318
HP:0002715	Abnormality of the immune system	811	CALR	ORPHA:3318
HP:0002715	Abnormality of the immune system	4352	MPL	ORPHA:3318
HP:0002715	Abnormality of the immune system	4352	MPL	ORPHA:729
HP:0002715	Abnormality of the immune system	3717	JAK2	ORPHA:3318
HP:0002715	Abnormality of the immune system	3717	JAK2	ORPHA:729
HP:0002715	Abnormality of the immune system	54790	TET2	ORPHA:3318
HP:0002715	Abnormality of the immune system	54790	TET2	ORPHA:729
HP:0002715	Abnormality of the immune system	412	STS	ORPHA:281090
HP:0002715	Abnormality of the immune system	7518	XRCC4	ORPHA:99812
HP:0002715	Abnormality of the immune system	3981	LIG4	ORPHA:99812
HP:0002715	Abnormality of the immune system	7305	TYROBP	ORPHA:2770
HP:0002715	Abnormality of the immune system	54209	TREM2	ORPHA:2770
HP:0002715	Abnormality of the immune system	4683	NBN	ORPHA:647
HP:0002715	Abnormality of the immune system	9487	PIGL	ORPHA:3474
HP:0002715	Abnormality of the immune system	2624	GATA2	ORPHA:3226
HP:0002715	Abnormality of the immune system	3587	IL10RA	OMIM:613148
HP:0002715	Abnormality of the immune system	4868	NPHS1	ORPHA:656
HP:0002715	Abnormality of the immune system	23607	CD2AP	ORPHA:656
HP:0002715	Abnormality of the immune system	9688	NUP93	ORPHA:656
HP:0002715	Abnormality of the immune system	4643	MYO1E	ORPHA:656
HP:0002715	Abnormality of the immune system	64423	INF2	ORPHA:656
HP:0002715	Abnormality of the immune system	26130	GAPVD1	ORPHA:656
HP:0002715	Abnormality of the immune system	57122	NUP107	ORPHA:656
HP:0002715	Abnormality of the immune system	51479	ANKFY1	ORPHA:656
HP:0002715	Abnormality of the immune system	54443	ANLN	ORPHA:656
HP:0002715	Abnormality of the immune system	5800	PTPRO	ORPHA:656
HP:0002715	Abnormality of the immune system	286204	CRB2	ORPHA:656
HP:0002715	Abnormality of the immune system	23165	NUP205	ORPHA:656
HP:0002715	Abnormality of the immune system	2013	EMP2	ORPHA:656
HP:0002715	Abnormality of the immune system	79023	NUP37	ORPHA:656
HP:0002715	Abnormality of the immune system	51196	PLCE1	ORPHA:656
HP:0002715	Abnormality of the immune system	79902	NUP85	ORPHA:656
HP:0002715	Abnormality of the immune system	396	ARHGDIA	ORPHA:656
HP:0002715	Abnormality of the immune system	79934	COQ8B	ORPHA:656
HP:0002715	Abnormality of the immune system	23279	NUP160	ORPHA:656
HP:0002715	Abnormality of the immune system	9863	MAGI2	ORPHA:656
HP:0002715	Abnormality of the immune system	81	ACTN4	ORPHA:656
HP:0002715	Abnormality of the immune system	7225	TRPC6	ORPHA:656
HP:0002715	Abnormality of the immune system	8542	APOL1	ORPHA:656
HP:0002715	Abnormality of the immune system	54885	TBC1D8B	ORPHA:656
HP:0002715	Abnormality of the immune system	7827	NPHS2	ORPHA:656
HP:0002715	Abnormality of the immune system	83478	ARHGAP24	ORPHA:656
HP:0002715	Abnormality of the immune system	23500	DAAM2	ORPHA:656
HP:0002715	Abnormality of the immune system	5076	PAX2	ORPHA:656
HP:0002715	Abnormality of the immune system	55746	NUP133	ORPHA:656
HP:0002715	Abnormality of the immune system	23314	SATB2	ORPHA:576283
HP:0002715	Abnormality of the immune system	51256	TBC1D7	OMIM:248000
HP:0002715	Abnormality of the immune system	29998	BICRA	OMIM:619325
HP:0002715	Abnormality of the immune system	7097	TLR2	OMIM:246300
HP:0002715	Abnormality of the immune system	4359	MPZ	OMIM:180800
HP:0002715	Abnormality of the immune system	5376	PMP22	OMIM:180800
HP:0002715	Abnormality of the immune system	65250	CPLANE1	ORPHA:65684
HP:0002715	Abnormality of the immune system	57562	CEP126	ORPHA:65684
HP:0002715	Abnormality of the immune system	4353	MPO	OMIM:254600
HP:0002715	Abnormality of the immune system	6049	RNF6	ORPHA:99977
HP:0002715	Abnormality of the immune system	51741	WWOX	ORPHA:99977
HP:0002715	Abnormality of the immune system	9940	DLEC1	ORPHA:99977
HP:0002715	Abnormality of the immune system	5978	REST	ORPHA:654
HP:0002715	Abnormality of the immune system	129563	DIS3L2	ORPHA:654
HP:0002715	Abnormality of the immune system	10155	TRIM28	ORPHA:654
HP:0002715	Abnormality of the immune system	11281	POU6F2	ORPHA:654
HP:0002715	Abnormality of the immune system	283120	H19	ORPHA:654
HP:0002715	Abnormality of the immune system	27183	VPS4A	OMIM:619273
HP:0002715	Abnormality of the immune system	7528	YY1	ORPHA:506358
HP:0002715	Abnormality of the immune system	7528	YY1	OMIM:617557
HP:0002715	Abnormality of the immune system	26235	FBXL4	OMIM:615471
HP:0002715	Abnormality of the immune system	8854	ALDH1A2	OMIM:620025
HP:0002715	Abnormality of the immune system	7018	TF	ORPHA:1195
HP:0002715	Abnormality of the immune system	80816	ASXL3	OMIM:615485
HP:0002715	Abnormality of the immune system	89910	UBE3B	OMIM:244450
HP:0002715	Abnormality of the immune system	9739	SETD1A	OMIM:619056
HP:0002715	Abnormality of the immune system	80204	FBXO11	OMIM:618089
HP:0002715	Abnormality of the immune system	1656	DDX6	OMIM:618653
HP:0002715	Abnormality of the immune system	26057	ANKRD17	OMIM:619504
HP:0002715	Abnormality of the immune system	8493	PPM1D	OMIM:617450
HP:0002715	Abnormality of the immune system	23126	POGZ	OMIM:616364
HP:0002715	Abnormality of the immune system	51692	CPSF3	OMIM:619876
HP:0002715	Abnormality of the immune system	6134	RPL10	ORPHA:459070
HP:0002715	Abnormality of the immune system	6134	RPL10	OMIM:300998
HP:0002715	Abnormality of the immune system	6134	RPL10	ORPHA:435938
HP:0002715	Abnormality of the immune system	83475	DOHH	OMIM:620066
HP:0002715	Abnormality of the immune system	92667	MGME1	ORPHA:352447
HP:0002715	Abnormality of the immune system	92667	MGME1	OMIM:615084
HP:0002715	Abnormality of the immune system	58508	KMT2C	ORPHA:261652
HP:0002715	Abnormality of the immune system	7355	SLC35A2	OMIM:300896
HP:0002715	Abnormality of the immune system	64116	SLC39A8	ORPHA:468699
HP:0002715	Abnormality of the immune system	64116	SLC39A8	OMIM:616721
HP:0002715	Abnormality of the immune system	10195	ALG3	ORPHA:79321
HP:0002715	Abnormality of the immune system	8295	TRRAP	OMIM:618454
HP:0002715	Abnormality of the immune system	3980	LIG3	OMIM:619780
HP:0002715	Abnormality of the immune system	128869	PIGU	OMIM:618590
HP:0002715	Abnormality of the immune system	79868	ALG13	OMIM:300884
HP:0002715	Abnormality of the immune system	27185	DISC1	ORPHA:171703
HP:0002715	Abnormality of the immune system	8320	EOMES	ORPHA:171703
HP:0002715	Abnormality of the immune system	3643	INSR	OMIM:246200
HP:0002715	Abnormality of the immune system	3643	INSR	ORPHA:769
HP:0002715	Abnormality of the immune system	2917	GRM7	OMIM:618922
HP:0002715	Abnormality of the immune system	9419	CRIPT	OMIM:615789
HP:0002715	Abnormality of the immune system	2892	GRIA3	ORPHA:364028
HP:0002715	Abnormality of the immune system	29927	SEC61A1	OMIM:617056
HP:0002715	Abnormality of the immune system	23568	ARL2BP	OMIM:615434
HP:0002715	Abnormality of the immune system	7204	TRIO	OMIM:617061
HP:0002715	Abnormality of the immune system	7204	TRIO	ORPHA:476126
HP:0002715	Abnormality of the immune system	283989	TSEN54	ORPHA:2524
HP:0002715	Abnormality of the immune system	116461	TSEN15	ORPHA:2524
HP:0002715	Abnormality of the immune system	79042	TSEN34	ORPHA:2524
HP:0002715	Abnormality of the immune system	80746	TSEN2	ORPHA:2524
HP:0002715	Abnormality of the immune system	51091	SEPSECS	ORPHA:2524
HP:0002715	Abnormality of the immune system	5970	RELA	OMIM:618287
HP:0002715	Abnormality of the immune system	2806	GOT2	OMIM:618721
HP:0002715	Abnormality of the immune system	23389	MED13L	OMIM:616789
HP:0002715	Abnormality of the immune system	9757	KMT2B	OMIM:619934
HP:0002715	Abnormality of the immune system	131669	UROC1	ORPHA:210128
HP:0002715	Abnormality of the immune system	79083	MLPH	OMIM:609227
HP:0002715	Abnormality of the immune system	166378	AFG2A	OMIM:616577
HP:0002715	Abnormality of the immune system	60	ACTB	ORPHA:79107
HP:0002715	Abnormality of the immune system	8450	CUL4B	ORPHA:85293
HP:0002715	Abnormality of the immune system	178	AGL	ORPHA:366
HP:0002715	Abnormality of the immune system	717	C2	OMIM:217000
HP:0002715	Abnormality of the immune system	10501	SEMA6B	OMIM:618876
HP:0002715	Abnormality of the immune system	1616	DAXX	ORPHA:100075
HP:0002715	Abnormality of the immune system	2304	FOXE1	ORPHA:319487
HP:0002715	Abnormality of the immune system	3026	HABP2	ORPHA:319487
HP:0002715	Abnormality of the immune system	25923	ATL3	OMIM:615632
HP:0002715	Abnormality of the immune system	25923	ATL3	ORPHA:36386
HP:0002715	Abnormality of the immune system	4803	NGF	OMIM:608654
HP:0002715	Abnormality of the immune system	1786	DNMT1	OMIM:614116
HP:0002715	Abnormality of the immune system	51062	ATL1	OMIM:613708
HP:0002715	Abnormality of the immune system	51062	ATL1	ORPHA:36386
HP:0002715	Abnormality of the immune system	10558	SPTLC1	OMIM:162400
HP:0002715	Abnormality of the immune system	10558	SPTLC1	ORPHA:36386
HP:0002715	Abnormality of the immune system	54463	RETREG1	OMIM:613115
HP:0002715	Abnormality of the immune system	205327	C2orf69	OMIM:619423
HP:0002715	Abnormality of the immune system	9517	SPTLC2	OMIM:613640
HP:0002715	Abnormality of the immune system	9517	SPTLC2	ORPHA:36386
HP:0002715	Abnormality of the immune system	1291	COL6A1	OMIM:254090
HP:0002715	Abnormality of the immune system	1292	COL6A2	OMIM:254090
HP:0002715	Abnormality of the immune system	1293	COL6A3	OMIM:254090
HP:0002715	Abnormality of the immune system	79912	PYROXD1	OMIM:617258
HP:0002715	Abnormality of the immune system	79759	ZNF668	OMIM:620194
HP:0002715	Abnormality of the immune system	6809	STX3	OMIM:619446
HP:0002715	Abnormality of the immune system	91869	RFT1	OMIM:612015
HP:0002715	Abnormality of the immune system	3913	LAMB2	ORPHA:98915
HP:0002715	Abnormality of the immune system	6662	SOX9	OMIM:114290
HP:0002715	Abnormality of the immune system	4718	NDUFC2	OMIM:619170
HP:0002715	Abnormality of the immune system	2530	FUT8	OMIM:618005
HP:0002715	Abnormality of the immune system	4591	TRIM37	OMIM:253250
HP:0002715	Abnormality of the immune system	7407	VARS1	OMIM:617802
HP:0002715	Abnormality of the immune system	79803	HPS6	OMIM:614075
HP:0002715	Abnormality of the immune system	23247	KATNIP	OMIM:616784
HP:0002715	Abnormality of the immune system	54808	DYM	ORPHA:239
HP:0002715	Abnormality of the immune system	3588	IL10RB	OMIM:612567
HP:0002715	Abnormality of the immune system	958	CD40	OMIM:606843
HP:0002715	Abnormality of the immune system	51604	PIGT	ORPHA:369837
HP:0002715	Abnormality of the immune system	6948	TCN2	OMIM:275350
HP:0002715	Abnormality of the immune system	6948	TCN2	ORPHA:859
HP:0002715	Abnormality of the immune system	7555	CNBP	OMIM:602668
HP:0002715	Abnormality of the immune system	28956	LAMTOR2	OMIM:610798
HP:0002715	Abnormality of the immune system	7841	MOGS	ORPHA:79330
HP:0002715	Abnormality of the immune system	5426	POLE	OMIM:615139
HP:0002715	Abnormality of the immune system	8838	CCN6	ORPHA:1159
HP:0002715	Abnormality of the immune system	6583	SLC22A4	OMIM:180300
HP:0002715	Abnormality of the immune system	51744	CD244	OMIM:180300
HP:0002715	Abnormality of the immune system	4795	NFKBIL1	OMIM:180300
HP:0002715	Abnormality of the immune system	1235	CCR6	ORPHA:220402
HP:0002715	Abnormality of the immune system	1235	CCR6	ORPHA:220393
HP:0002715	Abnormality of the immune system	79932	KIAA0319L	ORPHA:220402
HP:0002715	Abnormality of the immune system	1490	CCN2	ORPHA:220402
HP:0002715	Abnormality of the immune system	1490	CCN2	ORPHA:220393
HP:0002715	Abnormality of the immune system	29071	C1GALT1C1	OMIM:300622
HP:0002715	Abnormality of the immune system	3710	ITPR3	OMIM:222100
HP:0002715	Abnormality of the immune system	9652	SKIC3	ORPHA:84064
HP:0002715	Abnormality of the immune system	404672	GTF2H5	ORPHA:33364
HP:0002715	Abnormality of the immune system	833	CARS1	ORPHA:33364
HP:0002715	Abnormality of the immune system	7737	RNF113A	ORPHA:33364
HP:0002715	Abnormality of the immune system	136647	MPLKIP	ORPHA:33364
HP:0002715	Abnormality of the immune system	6897	TARS1	ORPHA:33364
HP:0002715	Abnormality of the immune system	2961	GTF2E2	ORPHA:33364
HP:0002715	Abnormality of the immune system	10999	SLC27A4	OMIM:608649
HP:0002715	Abnormality of the immune system	1369	CPN1	OMIM:212070
HP:0002715	Abnormality of the immune system	23387	SIK3	OMIM:618162
HP:0002715	Abnormality of the immune system	7941	PLA2G7	OMIM:147050
HP:0002715	Abnormality of the immune system	3566	IL4R	OMIM:147050
HP:0002715	Abnormality of the immune system	2206	MS4A2	OMIM:147050
HP:0002715	Abnormality of the immune system	1041	CDSN	ORPHA:90368
HP:0002715	Abnormality of the immune system	121391	KRT74	ORPHA:90368
HP:0002715	Abnormality of the immune system	5336	PLCG2	OMIM:614468
HP:0002715	Abnormality of the immune system	84701	COX4I2	OMIM:612714
HP:0002715	Abnormality of the immune system	3857	KRT9	OMIM:144200
HP:0002715	Abnormality of the immune system	4247	MGAT2	ORPHA:79329
HP:0002715	Abnormality of the immune system	7454	WAS	OMIM:301000
HP:0002715	Abnormality of the immune system	6772	STAT1	OMIM:614162
HP:0002715	Abnormality of the immune system	3718	JAK3	OMIM:600802
HP:0002715	Abnormality of the immune system	3718	JAK3	ORPHA:35078
HP:0002715	Abnormality of the immune system	57217	TTC7A	OMIM:243150
HP:0002715	Abnormality of the immune system	55388	MCM10	OMIM:619313
HP:0002715	Abnormality of the immune system	3561	IL2RG	OMIM:300400
HP:0002715	Abnormality of the immune system	4615	MYD88	OMIM:153600
HP:0002715	Abnormality of the immune system	5971	RELB	OMIM:617585
HP:0002715	Abnormality of the immune system	5788	PTPRC	OMIM:619924
HP:0002715	Abnormality of the immune system	6023	RMRP	OMIM:250250
HP:0002715	Abnormality of the immune system	7535	ZAP70	OMIM:617006
HP:0002715	Abnormality of the immune system	64919	BCL11B	OMIM:617237
HP:0002715	Abnormality of the immune system	200942	KLHDC8B	OMIM:236000
HP:0002715	Abnormality of the immune system	1161	ERCC8	OMIM:216400
HP:0002715	Abnormality of the immune system	1410	CRYAB	OMIM:608810
HP:0002715	Abnormality of the immune system	4313	MMP2	OMIM:259600
HP:0002715	Abnormality of the immune system	2324	FLT4	OMIM:153100
HP:0002715	Abnormality of the immune system	2706	GJB2	ORPHA:477
HP:0002715	Abnormality of the immune system	8913	CACNA1G	ORPHA:458803
HP:0002715	Abnormality of the immune system	3107	HLA-C	OMIM:177900
HP:0002715	Abnormality of the immune system	2625	GATA3	ORPHA:2237
HP:0002715	Abnormality of the immune system	130340	AP1S3	OMIM:616106
HP:0002715	Abnormality of the immune system	26525	IL36RN	OMIM:614204
HP:0002715	Abnormality of the immune system	3119	HLA-DQB1	ORPHA:703
HP:0002715	Abnormality of the immune system	3514	IGKC	ORPHA:183675
HP:0002715	Abnormality of the immune system	3501	IGHG2	ORPHA:183675
HP:0002715	Abnormality of the immune system	79092	CARD14	OMIM:602723
HP:0002715	Abnormality of the immune system	359948	IRF2BP2	OMIM:617765
HP:0002715	Abnormality of the immune system	55315	SLC29A3	ORPHA:168569
HP:0002715	Abnormality of the immune system	1828	DSG1	OMIM:615508
HP:0002715	Abnormality of the immune system	83483	PLVAP	OMIM:618183
HP:0002715	Abnormality of the immune system	10111	RAD50	OMIM:613078
HP:0002715	Abnormality of the immune system	970	CD70	OMIM:618261
HP:0002715	Abnormality of the immune system	1604	CD55	OMIM:226300
HP:0002715	Abnormality of the immune system	4796	TONSL	OMIM:271510
HP:0002715	Abnormality of the immune system	1457	CSNK2A1	OMIM:617062
HP:0002715	Abnormality of the immune system	55687	TRMU	OMIM:613070
HP:0002715	Abnormality of the immune system	8884	SLC5A6	OMIM:618973
HP:0002715	Abnormality of the immune system	1308	COL17A1	ORPHA:79406
HP:0002715	Abnormality of the immune system	26873	OPLAH	OMIM:260005
HP:0002715	Abnormality of the immune system	9636	ISG15	OMIM:616126
HP:0002715	Abnormality of the immune system	6789	STK4	OMIM:614868
HP:0002715	Abnormality of the immune system	90417	KNSTRN	ORPHA:221139
HP:0002715	Abnormality of the immune system	4173	MCM4	OMIM:609981
HP:0002715	Abnormality of the immune system	253959	RALGAPA1	OMIM:618797
HP:0002715	Abnormality of the immune system	7297	TYK2	OMIM:611521
HP:0002715	Abnormality of the immune system	3716	JAK1	OMIM:618999
HP:0002715	Abnormality of the immune system	79840	NHEJ1	ORPHA:169079
HP:0002715	Abnormality of the immune system	134218	DNAJC21	ORPHA:811
HP:0002715	Abnormality of the immune system	79631	EFL1	ORPHA:811
HP:0002715	Abnormality of the immune system	51119	SBDS	ORPHA:811
HP:0002715	Abnormality of the immune system	6729	SRP54	ORPHA:811
HP:0002715	Abnormality of the immune system	6729	SRP54	ORPHA:486
HP:0002715	Abnormality of the immune system	925	CD8A	OMIM:608957
HP:0002715	Abnormality of the immune system	57724	EPG5	OMIM:242840
HP:0002715	Abnormality of the immune system	84061	MAGT1	OMIM:300853
HP:0002715	Abnormality of the immune system	50619	DEF6	OMIM:619573
HP:0002715	Abnormality of the immune system	10379	IRF9	OMIM:618648
HP:0002715	Abnormality of the immune system	1503	CTPS1	OMIM:615897
HP:0002715	Abnormality of the immune system	686	BTD	ORPHA:79241
HP:0002715	Abnormality of the immune system	3431	SP110	ORPHA:79124
HP:0002715	Abnormality of the immune system	10312	TCIRG1	ORPHA:486
HP:0002715	Abnormality of the immune system	2672	GFI1	ORPHA:486
HP:0002715	Abnormality of the immune system	81570	CLPB	ORPHA:486
HP:0002715	Abnormality of the immune system	81704	DOCK8	OMIM:243700
HP:0002715	Abnormality of the immune system	81704	DOCK8	ORPHA:217390
HP:0002715	Abnormality of the immune system	2313	FLI1	OMIM:617443
HP:0002715	Abnormality of the immune system	10892	MALT1	OMIM:615468
HP:0002715	Abnormality of the immune system	10320	IKZF1	OMIM:616873
HP:0002715	Abnormality of the immune system	3559	IL2RA	OMIM:606367
HP:0002715	Abnormality of the immune system	165918	RNF168	ORPHA:420741
HP:0002715	Abnormality of the immune system	2137	EXTL3	ORPHA:508533
HP:0002715	Abnormality of the immune system	2137	EXTL3	OMIM:617425
HP:0002715	Abnormality of the immune system	5896	RAG1	ORPHA:231154
HP:0002715	Abnormality of the immune system	5896	RAG1	OMIM:601457
HP:0002715	Abnormality of the immune system	5896	RAG1	ORPHA:39041
HP:0002715	Abnormality of the immune system	4860	PNP	ORPHA:760
HP:0002715	Abnormality of the immune system	5897	RAG2	OMIM:601457
HP:0002715	Abnormality of the immune system	5897	RAG2	ORPHA:39041
HP:0002715	Abnormality of the immune system	4522	MTHFD1	OMIM:617780
HP:0002715	Abnormality of the immune system	5591	PRKDC	OMIM:615966
HP:0002715	Abnormality of the immune system	5238	PGM3	ORPHA:443811
HP:0002715	Abnormality of the immune system	55636	CHD7	ORPHA:39041
HP:0002715	Abnormality of the immune system	64421	DCLRE1C	ORPHA:39041
HP:0002715	Abnormality of the immune system	64421	DCLRE1C	OMIM:602450
HP:0002715	Abnormality of the immune system	3575	IL7R	ORPHA:39041
HP:0002715	Abnormality of the immune system	3575	IL7R	OMIM:608971
HP:0002715	Abnormality of the immune system	915	CD3D	OMIM:615617
HP:0002715	Abnormality of the immune system	10747	MASP2	OMIM:613791
HP:0002715	Abnormality of the immune system	1776	DNASE1L3	ORPHA:36412
HP:0002715	Abnormality of the immune system	2584	GALK1	ORPHA:79237
HP:0002715	Abnormality of the immune system	695	BTK	ORPHA:47
HP:0002715	Abnormality of the immune system	695	BTK	OMIM:300755
HP:0002715	Abnormality of the immune system	30011	SH3KBP1	OMIM:300310
HP:0002715	Abnormality of the immune system	3551	IKBKB	OMIM:615592
HP:0002715	Abnormality of the immune system	7922	SLC39A7	OMIM:619693
HP:0002715	Abnormality of the immune system	5295	PIK3R1	OMIM:615214
HP:0002715	Abnormality of the immune system	5295	PIK3R1	ORPHA:33110
HP:0002715	Abnormality of the immune system	6929	TCF3	OMIM:616941
HP:0002715	Abnormality of the immune system	6929	TCF3	OMIM:619824
HP:0002715	Abnormality of the immune system	6929	TCF3	ORPHA:33110
HP:0002715	Abnormality of the immune system	3507	IGHM	OMIM:601495
HP:0002715	Abnormality of the immune system	3507	IGHM	ORPHA:33110
HP:0002715	Abnormality of the immune system	1678	TIMM8A	ORPHA:52368
HP:0002715	Abnormality of the immune system	974	CD79B	OMIM:612692
HP:0002715	Abnormality of the immune system	974	CD79B	ORPHA:33110
HP:0002715	Abnormality of the immune system	96459	FNIP1	OMIM:619705
HP:0002715	Abnormality of the immune system	6688	SPI1	OMIM:619707
HP:0002715	Abnormality of the immune system	973	CD79A	OMIM:613501
HP:0002715	Abnormality of the immune system	973	CD79A	ORPHA:33110
HP:0002715	Abnormality of the immune system	3543	IGLL1	OMIM:613500
HP:0002715	Abnormality of the immune system	3543	IGLL1	ORPHA:33110
HP:0002715	Abnormality of the immune system	3070	HELLS	OMIM:616911
HP:0002715	Abnormality of the immune system	84433	CARD11	OMIM:615206
HP:0002715	Abnormality of the immune system	83879	CDCA7	OMIM:616910
HP:0002715	Abnormality of the immune system	29760	BLNK	OMIM:613502
HP:0002715	Abnormality of the immune system	29760	BLNK	ORPHA:33110
HP:0002715	Abnormality of the immune system	56262	LRRC8A	OMIM:613506
HP:0002715	Abnormality of the immune system	56262	LRRC8A	ORPHA:33110
HP:0002715	Abnormality of the immune system	6651	SON	ORPHA:500150
HP:0002715	Abnormality of the immune system	732	C8B	OMIM:613789
HP:0002715	Abnormality of the immune system	731	C8A	OMIM:613790
HP:0002715	Abnormality of the immune system	3875	KRT18	OMIM:215600
HP:0002715	Abnormality of the immune system	128	ADH5	OMIM:619151
HP:0002715	Abnormality of the immune system	26511	CHIC2	OMIM:601626
HP:0002715	Abnormality of the immune system	8021	NUP214	OMIM:601626
HP:0002715	Abnormality of the immune system	1050	CEBPA	OMIM:601626
HP:0002715	Abnormality of the immune system	2322	FLT3	OMIM:601626
HP:0002715	Abnormality of the immune system	1788	DNMT3A	OMIM:601626
HP:0002715	Abnormality of the immune system	6455	SH3GL1	OMIM:601626
HP:0002715	Abnormality of the immune system	8028	MLLT10	OMIM:601626
HP:0002715	Abnormality of the immune system	8301	PICALM	OMIM:601626
HP:0002715	Abnormality of the immune system	4026	LPP	OMIM:601626
HP:0002715	Abnormality of the immune system	8930	MBD4	OMIM:619975
HP:0002715	Abnormality of the immune system	6138	RPL15	ORPHA:124
HP:0002715	Abnormality of the immune system	6229	RPS24	ORPHA:124
HP:0002715	Abnormality of the immune system	6125	RPL5	ORPHA:124
HP:0002715	Abnormality of the immune system	6204	RPS10	ORPHA:124
HP:0002715	Abnormality of the immune system	6224	RPS20	ORPHA:124
HP:0002715	Abnormality of the immune system	6165	RPL35A	ORPHA:124
HP:0002715	Abnormality of the immune system	6223	RPS19	ORPHA:124
HP:0002715	Abnormality of the immune system	6232	RPS27	ORPHA:124
HP:0002715	Abnormality of the immune system	6231	RPS26	ORPHA:124
HP:0002715	Abnormality of the immune system	11224	RPL35	ORPHA:124
HP:0002715	Abnormality of the immune system	6160	RPL31	ORPHA:124
HP:0002715	Abnormality of the immune system	6218	RPS17	ORPHA:124
HP:0002715	Abnormality of the immune system	6201	RPS7	ORPHA:124
HP:0002715	Abnormality of the immune system	6155	RPL27	ORPHA:124
HP:0002715	Abnormality of the immune system	6154	RPL26	ORPHA:124
HP:0002715	Abnormality of the immune system	6210	RPS15A	ORPHA:124
HP:0002715	Abnormality of the immune system	90121	TSR2	ORPHA:124
HP:0002715	Abnormality of the immune system	6141	RPL18	ORPHA:124
HP:0002715	Abnormality of the immune system	6235	RPS29	ORPHA:124
HP:0002715	Abnormality of the immune system	2120	ETV6	OMIM:616216
HP:0002715	Abnormality of the immune system	10841	FTCD	OMIM:229100
HP:0002715	Abnormality of the immune system	119559	SFXN4	OMIM:615578
HP:0002715	Abnormality of the immune system	8029	CUBN	ORPHA:35858
HP:0002715	Abnormality of the immune system	81693	AMN	ORPHA:35858
HP:0002715	Abnormality of the immune system	6573	SLC19A1	OMIM:601775
HP:0002715	Abnormality of the immune system	161742	SPRED1	ORPHA:137605
HP:0002715	Abnormality of the immune system	8518	ELP1	OMIM:223900
HP:0002715	Abnormality of the immune system	57731	SPTBN4	OMIM:617519
HP:0002715	Abnormality of the immune system	4358	MPV17	OMIM:256810
HP:0002715	Abnormality of the immune system	4507	MTAP	OMIM:112250
HP:0002715	Abnormality of the immune system	2321	FLT1	ORPHA:275555
HP:0002715	Abnormality of the immune system	219736	STOX1	ORPHA:275555
HP:0002715	Abnormality of the immune system	10699	CORIN	ORPHA:275555
HP:0002715	Abnormality of the immune system	716	C1S	OMIM:613783
HP:0002715	Abnormality of the immune system	80144	FRAS1	OMIM:219000
HP:0002715	Abnormality of the immune system	8456	FOXN1	OMIM:601705
HP:0002715	Abnormality of the immune system	641	BLM	ORPHA:125
HP:0002715	Abnormality of the immune system	81622	UNC93B1	OMIM:610551
HP:0002715	Abnormality of the immune system	9138	ARHGEF1	OMIM:618459
HP:0002715	Abnormality of the immune system	712	C1QA	OMIM:613652
HP:0002715	Abnormality of the immune system	3078	CFHR1	OMIM:235400
HP:0002715	Abnormality of the immune system	10878	CFHR3	OMIM:235400
HP:0002715	Abnormality of the immune system	6909	TBX2	OMIM:618223
HP:0002715	Abnormality of the immune system	5557	PRIM1	OMIM:620005
HP:0002715	Abnormality of the immune system	10483	SEC23B	ORPHA:201
HP:0002715	Abnormality of the immune system	5728	PTEN	ORPHA:201
HP:0002715	Abnormality of the immune system	6390	SDHB	ORPHA:201
HP:0002715	Abnormality of the immune system	6392	SDHD	ORPHA:201
HP:0002715	Abnormality of the immune system	6391	SDHC	ORPHA:201
HP:0002715	Abnormality of the immune system	207	AKT1	ORPHA:201
HP:0002715	Abnormality of the immune system	205717	USF3	ORPHA:201
HP:0002715	Abnormality of the immune system	5290	PIK3CA	ORPHA:201
HP:0002715	Abnormality of the immune system	100144748	KLLN	ORPHA:201
HP:0002715	Abnormality of the immune system	6103	RPGR	OMIM:300455
HP:0002715	Abnormality of the immune system	6340	SCNN1G	ORPHA:60033
HP:0002715	Abnormality of the immune system	6338	SCNN1B	ORPHA:60033
HP:0002715	Abnormality of the immune system	730	C7	OMIM:610102
HP:0002715	Abnormality of the immune system	729	C6	OMIM:612446
HP:0002715	Abnormality of the immune system	4153	MBL2	OMIM:614372
HP:0002715	Abnormality of the immune system	629	CFB	OMIM:615561
HP:0002715	Abnormality of the immune system	841	CASP8	OMIM:607271
HP:0002715	Abnormality of the immune system	701	BUB1B	OMIM:257300
HP:0002715	Abnormality of the immune system	3075	CFH	OMIM:609814
HP:0002715	Abnormality of the immune system	3953	LEPR	ORPHA:179494
HP:0002715	Abnormality of the immune system	3952	LEP	ORPHA:66628
HP:0002715	Abnormality of the immune system	84823	LMNB2	OMIM:608709
HP:0002715	Abnormality of the immune system	84823	LMNB2	ORPHA:79087
HP:0002715	Abnormality of the immune system	55690	PACS1	ORPHA:329224
HP:0002715	Abnormality of the immune system	4179	CD46	OMIM:612922
HP:0002715	Abnormality of the immune system	7056	THBD	OMIM:612926
HP:0002715	Abnormality of the immune system	5199	CFP	OMIM:312060
HP:0002715	Abnormality of the immune system	23545	ATP6V0A2	ORPHA:2834
HP:0002715	Abnormality of the immune system	9993	DGCR2	OMIM:192430
HP:0002715	Abnormality of the immune system	8220	ESS2	OMIM:192430
HP:0002715	Abnormality of the immune system	8214	DGCR6	OMIM:192430
HP:0002715	Abnormality of the immune system	54487	DGCR8	OMIM:192430
HP:0002715	Abnormality of the immune system	7066	THPO	ORPHA:71493
HP:0002715	Abnormality of the immune system	25	ABL1	OMIM:608232
HP:0002715	Abnormality of the immune system	613	BCR	OMIM:608232
HP:0002715	Abnormality of the immune system	1991	ELANE	OMIM:202700
HP:0002715	Abnormality of the immune system	204	AK2	OMIM:267500
HP:0002715	Abnormality of the immune system	210	ALAD	ORPHA:100924
HP:0002715	Abnormality of the immune system	5159	PDGFRB	OMIM:131440
HP:0002715	Abnormality of the immune system	5156	PDGFRA	OMIM:607685
HP:0002715	Abnormality of the immune system	5649	RELN	ORPHA:89844
HP:0002715	Abnormality of the immune system	10300	KATNB1	ORPHA:89844
HP:0002715	Abnormality of the immune system	64220	STRA6	OMIM:601186
HP:0002715	Abnormality of the immune system	63929	XPNPEP3	OMIM:613159
HP:0002715	Abnormality of the immune system	2710	GK	OMIM:307030
HP:0002715	Abnormality of the immune system	4921	DDR2	OMIM:271665
HP:0002715	Abnormality of the immune system	3763	KCNJ6	ORPHA:435628
HP:0002715	Abnormality of the immune system	3763	KCNJ6	OMIM:614098
HP:0002715	Abnormality of the immune system	5351	PLOD1	OMIM:225400
HP:0002715	Abnormality of the immune system	5351	PLOD1	ORPHA:1900
HP:0002715	Abnormality of the immune system	6477	SIAH1	OMIM:619314
HP:0002715	Abnormality of the immune system	81857	MED25	OMIM:616449
HP:0002715	Abnormality of the immune system	81857	MED25	ORPHA:464738
HP:0002715	Abnormality of the immune system	126792	B3GALT6	OMIM:609465
HP:0002715	Abnormality of the immune system	1302	COL11A2	OMIM:215150
HP:0002715	Abnormality of the immune system	10157	AASS	ORPHA:2203
HP:0002715	Abnormality of the immune system	6904	TBCD	ORPHA:496641
HP:0002715	Abnormality of the immune system	54681	P4HTM	OMIM:618493
HP:0002715	Abnormality of the immune system	23594	ORC6	OMIM:613803
HP:0002715	Abnormality of the immune system	2588	GALNS	OMIM:253000
HP:0002715	Abnormality of the immune system	871	SERPINH1	OMIM:613848
HP:0002715	Abnormality of the immune system	55294	FBXW7	OMIM:620012
HP:0002715	Abnormality of the immune system	4233	MET	OMIM:114550
HP:0002715	Abnormality of the immune system	8312	AXIN1	OMIM:114550
HP:0002715	Abnormality of the immune system	5157	PDGFRL	OMIM:114550
HP:0002715	Abnormality of the immune system	3482	IGF2R	OMIM:114550
HP:0002715	Abnormality of the immune system	5573	PRKAR1A	ORPHA:615
HP:0002715	Abnormality of the immune system	5573	PRKAR1A	OMIM:255960
HP:0002715	Abnormality of the immune system	9184	BUB3	ORPHA:1052
HP:0002715	Abnormality of the immune system	699	BUB1	ORPHA:1052
HP:0002715	Abnormality of the immune system	9702	CEP57	ORPHA:1052
HP:0002715	Abnormality of the immune system	9319	TRIP13	ORPHA:1052
HP:0002715	Abnormality of the immune system	581	BAX	OMIM:613065
HP:0002715	Abnormality of the immune system	6886	TAL1	OMIM:613065
HP:0002715	Abnormality of the immune system	6887	TAL2	OMIM:613065
HP:0002715	Abnormality of the immune system	10456	HAX1	OMIM:610738
HP:0002715	Abnormality of the immune system	64324	NSD1	ORPHA:821
HP:0002715	Abnormality of the immune system	10297	APC2	ORPHA:821
HP:0002715	Abnormality of the immune system	4436	MSH2	OMIM:619096
HP:0002715	Abnormality of the immune system	727	C5	OMIM:609536
HP:0002715	Abnormality of the immune system	203859	ANO5	ORPHA:53697
HP:0002715	Abnormality of the immune system	8626	TP63	ORPHA:69085
HP:0002715	Abnormality of the immune system	1675	CFD	OMIM:613912
HP:0002715	Abnormality of the immune system	1314	COPA	OMIM:616414
HP:0002715	Abnormality of the immune system	4773	NFATC2	OMIM:620232
HP:0002715	Abnormality of the immune system	64170	CARD9	OMIM:212050
HP:0002715	Abnormality of the immune system	84905	ZNF341	OMIM:618282
HP:0002715	Abnormality of the immune system	916	CD3E	ORPHA:169160
HP:0002715	Abnormality of the immune system	326	AIRE	OMIM:240300
HP:0002715	Abnormality of the immune system	7037	TFRC	OMIM:616740
HP:0002715	Abnormality of the immune system	6097	RORC	OMIM:616622
HP:0002715	Abnormality of the immune system	3932	LCK	OMIM:615758
HP:0002715	Abnormality of the immune system	23765	IL17RA	OMIM:613953
HP:0002715	Abnormality of the immune system	8546	AP3B1	OMIM:608233
HP:0002715	Abnormality of the immune system	51311	TLR8	OMIM:301078
HP:0002715	Abnormality of the immune system	9948	WDR1	OMIM:150550
HP:0002715	Abnormality of the immune system	28755	TRAC	OMIM:615387
HP:0002715	Abnormality of the immune system	11151	CORO1A	OMIM:615401
HP:0002715	Abnormality of the immune system	1794	DOCK2	OMIM:616433
HP:0002715	Abnormality of the immune system	10758	TRAF3IP2	OMIM:615527
HP:0002715	Abnormality of the immune system	917	CD3G	OMIM:615607
HP:0002715	Abnormality of the immune system	1777	DNASE2	OMIM:619858
HP:0002715	Abnormality of the immune system	2642	GCGR	ORPHA:438274
HP:0002715	Abnormality of the immune system	399	RHOH	OMIM:618307
HP:0002715	Abnormality of the immune system	55788	LMBRD1	OMIM:277380
HP:0002715	Abnormality of the immune system	55788	LMBRD1	ORPHA:79284
HP:0002715	Abnormality of the immune system	3557	IL1RN	OMIM:612852
HP:0002715	Abnormality of the immune system	25974	MMACHC	ORPHA:79282
HP:0002715	Abnormality of the immune system	3117	HLA-DQA1	OMIM:212750
HP:0002715	Abnormality of the immune system	8942	KYNU	ORPHA:79155
HP:0002715	Abnormality of the immune system	93	ACVR2B	OMIM:613751
HP:0002715	Abnormality of the immune system	118429	ANTXR2	ORPHA:2176
HP:0002715	Abnormality of the immune system	4524	MTHFR	ORPHA:563609
HP:0002715	Abnormality of the immune system	57216	VANGL2	ORPHA:563609
HP:0002715	Abnormality of the immune system	7020	TFAP2A	OMIM:113620
HP:0002715	Abnormality of the immune system	84876	ORAI1	OMIM:612782
HP:0002715	Abnormality of the immune system	6786	STIM1	OMIM:612783
HP:0002715	Abnormality of the immune system	940	CD28	ORPHA:3162
HP:0002715	Abnormality of the immune system	7133	TNFRSF1B	ORPHA:3162
HP:0002715	Abnormality of the immune system	213	ALB	ORPHA:86816
HP:0002715	Abnormality of the immune system	6440	SFTPC	OMIM:178500
HP:0002715	Abnormality of the immune system	727897	MUC5B	OMIM:178500
HP:0002715	Abnormality of the immune system	729238	SFTPA2	OMIM:178500
HP:0002715	Abnormality of the immune system	11311	VPS45	OMIM:615285
HP:0002715	Abnormality of the immune system	1277	COL1A1	ORPHA:1310
HP:0002715	Abnormality of the immune system	23064	SETX	OMIM:606002
HP:0002715	Abnormality of the immune system	950	SCARB2	ORPHA:77259
HP:0002715	Abnormality of the immune system	23250	ATP11A	OMIM:619851
HP:0002715	Abnormality of the immune system	5144	PDE4D	ORPHA:950
HP:0002715	Abnormality of the immune system	134701	RIPPLY2	ORPHA:2311
HP:0002715	Abnormality of the immune system	3955	LFNG	ORPHA:2311
HP:0002715	Abnormality of the immune system	84667	HES7	ORPHA:2311
HP:0002715	Abnormality of the immune system	10225	CD96	ORPHA:1308
HP:0002715	Abnormality of the immune system	4693	NDP	ORPHA:649
HP:0002715	Abnormality of the immune system	51002	TPRKB	ORPHA:2065
HP:0002715	Abnormality of the immune system	84942	WDR73	ORPHA:2065
HP:0002715	Abnormality of the immune system	55644	OSGEP	ORPHA:2065
HP:0002715	Abnormality of the immune system	10785	WDR4	ORPHA:2065
HP:0002715	Abnormality of the immune system	112858	TP53RK	ORPHA:2065
HP:0002715	Abnormality of the immune system	8270	LAGE3	ORPHA:2065
HP:0002715	Abnormality of the immune system	9723	SEMA3E	ORPHA:138
HP:0002715	Abnormality of the immune system	54941	RNF125	OMIM:616260
HP:0002715	Abnormality of the immune system	54453	RIN2	OMIM:613075
HP:0002715	Abnormality of the immune system	1289	COL5A1	OMIM:130000
HP:0002715	Abnormality of the immune system	1290	COL5A2	OMIM:130010
HP:0002715	Abnormality of the immune system	4194	MDM4	OMIM:618849
HP:0002715	Abnormality of the immune system	25790	CFAP45	OMIM:619608
HP:0002715	Abnormality of the immune system	718	C3	OMIM:613779
HP:0002715	Abnormality of the immune system	22845	DOLK	OMIM:610768
HP:0002715	Abnormality of the immune system	2683	B4GALT1	ORPHA:79332
HP:0002715	Abnormality of the immune system	3141	HLCS	ORPHA:79242
HP:0002715	Abnormality of the immune system	55851	PSENEN	OMIM:613736
HP:0002715	Abnormality of the immune system	5663	PSEN1	OMIM:613737
HP:0002715	Abnormality of the immune system	3460	IFNGR2	OMIM:614889
HP:0002715	Abnormality of the immune system	51594	NBAS	OMIM:614800
HP:0002715	Abnormality of the immune system	10430	TMEM147	OMIM:620075
HP:0002715	Abnormality of the immune system	4072	EPCAM	ORPHA:92050
HP:0002715	Abnormality of the immune system	105371045	PERCC1	ORPHA:92050
HP:0002715	Abnormality of the immune system	65055	REEP1	OMIM:620011
HP:0002715	Abnormality of the immune system	5339	PLEC	ORPHA:254361
HP:0002715	Abnormality of the immune system	5832	ALDH18A1	ORPHA:90348
HP:0002715	Abnormality of the immune system	6890	TAP1	OMIM:604571
HP:0002715	Abnormality of the immune system	6891	TAP2	OMIM:604571
HP:0002715	Abnormality of the immune system	6892	TAPBP	OMIM:604571
HP:0002715	Abnormality of the immune system	4784	NFIX	OMIM:602535
HP:0002715	Abnormality of the immune system	9342	SNAP29	OMIM:609528
HP:0002715	Abnormality of the immune system	55791	LRIF1	OMIM:619477
HP:0002715	Abnormality of the immune system	54809	SAMD9	OMIM:617053
HP:0002715	Abnormality of the immune system	55037	PTCD3	OMIM:619057
HP:0002715	Abnormality of the immune system	10735	STAG2	ORPHA:220386
HP:0002715	Abnormality of the immune system	10735	STAG2	ORPHA:93925
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:220386
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93926
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93924
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93925
HP:0002715	Abnormality of the immune system	6597	SMARCA4	ORPHA:1465
HP:0002715	Abnormality of the immune system	6598	SMARCB1	ORPHA:1465
HP:0002715	Abnormality of the immune system	6659	SOX4	ORPHA:1465
HP:0002715	Abnormality of the immune system	8289	ARID1A	ORPHA:1465
HP:0002715	Abnormality of the immune system	6601	SMARCC2	ORPHA:1465
HP:0002715	Abnormality of the immune system	6602	SMARCD1	ORPHA:1465
HP:0002715	Abnormality of the immune system	196528	ARID2	ORPHA:1465
HP:0002715	Abnormality of the immune system	6605	SMARCE1	ORPHA:1465
HP:0002715	Abnormality of the immune system	6664	SOX11	ORPHA:1465
HP:0002715	Abnormality of the immune system	8398	PLA2G6	ORPHA:35069
HP:0002715	Abnormality of the immune system	5048	PAFAH1B1	ORPHA:95232
HP:0002715	Abnormality of the immune system	6872	TAF1	ORPHA:53351
HP:0002715	Abnormality of the immune system	526	ATP6V1B2	ORPHA:79500
HP:0002715	Abnormality of the immune system	57465	TBC1D24	ORPHA:79500
HP:0002715	Abnormality of the immune system	9896	FIG4	OMIM:216340
HP:0002715	Abnormality of the immune system	283446	MYO1H	OMIM:619482
HP:0002715	Abnormality of the immune system	80025	PANK2	ORPHA:216866
HP:0002715	Abnormality of the immune system	92935	MARS2	OMIM:616430
HP:0002715	Abnormality of the immune system	4700	NDUFA6	OMIM:618253
HP:0002715	Abnormality of the immune system	10342	TFG	ORPHA:90117
HP:0002715	Abnormality of the immune system	23007	PLCH1	ORPHA:93925
HP:0002715	Abnormality of the immune system	5277	PIGA	OMIM:301072
HP:0002715	Abnormality of the immune system	4001	LMNB1	ORPHA:99027
HP:0002715	Abnormality of the immune system	5813	PURA	ORPHA:314655
HP:0002715	Abnormality of the immune system	6208	RPS14	ORPHA:86841
HP:0002715	Abnormality of the immune system	1053	CEBPE	OMIM:245480
HP:0002715	Abnormality of the immune system	2821	GPI	OMIM:613470
HP:0002715	Abnormality of the immune system	30009	TBX21	OMIM:208550
HP:0002715	Abnormality of the immune system	5732	PTGER2	OMIM:208550
HP:0002715	Abnormality of the immune system	23729	SHPK	ORPHA:440713
HP:0002715	Abnormality of the immune system	9095	TBX19	ORPHA:199296
HP:0002715	Abnormality of the immune system	1581	CYP7A1	ORPHA:209902
HP:0002715	Abnormality of the immune system	23534	TNPO3	ORPHA:186
HP:0002715	Abnormality of the immune system	6689	SPIB	ORPHA:186
HP:0002715	Abnormality of the immune system	5450	POU2AF1	ORPHA:186
HP:0002715	Abnormality of the immune system	9966	TNFSF15	ORPHA:186
HP:0002715	Abnormality of the immune system	79258	MMEL1	ORPHA:186
HP:0002715	Abnormality of the immune system	3663	IRF5	ORPHA:186
HP:0002715	Abnormality of the immune system	545	ATR	OMIM:614564
HP:0002715	Abnormality of the immune system	3248	HPGD	ORPHA:217059
HP:0002715	Abnormality of the immune system	23092	ARHGAP26	OMIM:607785
HP:0002715	Abnormality of the immune system	5604	MAP2K1	OMIM:163950
HP:0002715	Abnormality of the immune system	2243	FGA	OMIM:202400
HP:0002715	Abnormality of the immune system	2244	FGB	OMIM:202400
HP:0002715	Abnormality of the immune system	2266	FGG	OMIM:202400
HP:0002715	Abnormality of the immune system	4598	MVK	OMIM:610377
HP:0002715	Abnormality of the immune system	3661	IRF3	OMIM:616532
HP:0002715	Abnormality of the immune system	677814	SNORA31	OMIM:619396
HP:0002715	Abnormality of the immune system	735	C9	OMIM:613825
HP:0002715	Abnormality of the immune system	7498	XDH	OMIM:278300
HP:0002715	Abnormality of the immune system	9333	TGM5	ORPHA:263534
HP:0002715	Abnormality of the immune system	1475	CSTA	ORPHA:263534
HP:0002715	Abnormality of the immune system	1105	CHD1	ORPHA:529965
HP:0002715	Abnormality of the immune system	6711	SPTBN1	OMIM:619475
HP:0002715	Abnormality of the immune system	51284	TLR7	OMIM:301080
HP:0002715	Abnormality of the immune system	56984	PSMG2	OMIM:619183
HP:0002715	Abnormality of the immune system	114803	MYSM1	ORPHA:508542
HP:0002715	Abnormality of the immune system	84868	HAVCR2	OMIM:618398
HP:0002715	Abnormality of the immune system	84868	HAVCR2	ORPHA:86884
HP:0002715	Abnormality of the immune system	90268	OTULIN	OMIM:617099
HP:0002715	Abnormality of the immune system	5692	PSMB4	OMIM:617591
HP:0002715	Abnormality of the immune system	5698	PSMB9	OMIM:617591
HP:0002715	Abnormality of the immune system	3832	KIF11	ORPHA:2526
HP:0002715	Abnormality of the immune system	92579	G6PC3	OMIM:612541
HP:0002715	Abnormality of the immune system	8517	IKBKG	OMIM:301081
HP:0002715	Abnormality of the immune system	10535	RNASEH2A	ORPHA:51
HP:0002715	Abnormality of the immune system	84153	RNASEH2C	ORPHA:51
HP:0002715	Abnormality of the immune system	25939	SAMHD1	ORPHA:51
HP:0002715	Abnormality of the immune system	79621	RNASEH2B	ORPHA:51
HP:0002715	Abnormality of the immune system	103	ADAR	ORPHA:51
HP:0002715	Abnormality of the immune system	11277	TREX1	ORPHA:51
HP:0002715	Abnormality of the immune system	100147744	RNU7-1	ORPHA:51
HP:0002715	Abnormality of the immune system	134353	LSM11	ORPHA:51
HP:0002715	Abnormality of the immune system	64135	IFIH1	ORPHA:51
HP:0002715	Abnormality of the immune system	55243	KIRREL1	OMIM:619201
HP:0002715	Abnormality of the immune system	25959	KANK2	OMIM:617783
HP:0002715	Abnormality of the immune system	6399	TRAPPC2	ORPHA:93284
HP:0002715	Abnormality of the immune system	22806	IKZF3	OMIM:619437
HP:0002715	Abnormality of the immune system	10625	IVNS1ABP	OMIM:618969
HP:0002715	Abnormality of the immune system	84888	SPPL2A	OMIM:619549
HP:0002715	Abnormality of the immune system	3454	IFNAR1	OMIM:619935
HP:0002715	Abnormality of the immune system	3455	IFNAR2	OMIM:616669
HP:0002715	Abnormality of the immune system	3872	KRT17	OMIM:167210
HP:0002715	Abnormality of the immune system	7156	TOP3A	OMIM:618097
HP:0002715	Abnormality of the immune system	8558	CDK10	OMIM:617694
HP:0002715	Abnormality of the immune system	3767	KCNJ11	OMIM:610582
HP:0002715	Abnormality of the immune system	3767	KCNJ11	OMIM:616329
HP:0002715	Abnormality of the immune system	1854	DUT	OMIM:620044
HP:0002715	Abnormality of the immune system	7128	TNFAIP3	OMIM:616744
HP:0002715	Abnormality of the immune system	51816	ADA2	OMIM:615688
HP:0002715	Abnormality of the immune system	6775	STAT4	ORPHA:93552
HP:0002715	Abnormality of the immune system	6696	SPP1	ORPHA:93552
HP:0002715	Abnormality of the immune system	3654	IRAK1	ORPHA:93552
HP:0002715	Abnormality of the immune system	100	ADA	ORPHA:277
HP:0002715	Abnormality of the immune system	51371	POMP	OMIM:618048
HP:0002715	Abnormality of the immune system	4791	NFKB2	OMIM:615577
HP:0002715	Abnormality of the immune system	7253	TSHR	OMIM:609152
HP:0002715	Abnormality of the immune system	169792	GLIS3	OMIM:610199
HP:0002715	Abnormality of the immune system	7068	THRB	OMIM:274300
HP:0002715	Abnormality of the immune system	83737	ITCH	ORPHA:228426
HP:0002715	Abnormality of the immune system	5915	RARB	ORPHA:2470
HP:0002715	Abnormality of the immune system	94	ACVRL1	OMIM:600376
HP:0002715	Abnormality of the immune system	2022	ENG	OMIM:187300
HP:0002715	Abnormality of the immune system	8462	KLF11	ORPHA:552
HP:0002715	Abnormality of the immune system	2645	GCK	ORPHA:552
HP:0002715	Abnormality of the immune system	2645	GCK	ORPHA:99885
HP:0002715	Abnormality of the immune system	26060	APPL1	ORPHA:552
HP:0002715	Abnormality of the immune system	640	BLK	ORPHA:552
HP:0002715	Abnormality of the immune system	1056	CEL	ORPHA:552
HP:0002715	Abnormality of the immune system	4760	NEUROD1	ORPHA:552
HP:0002715	Abnormality of the immune system	3651	PDX1	ORPHA:552
HP:0002715	Abnormality of the immune system	3651	PDX1	ORPHA:99885
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:552
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:79134
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:99885
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:99886
HP:0002715	Abnormality of the immune system	5078	PAX4	ORPHA:552
HP:0002715	Abnormality of the immune system	3172	HNF4A	ORPHA:552
HP:0002715	Abnormality of the immune system	6927	HNF1A	ORPHA:552
HP:0002715	Abnormality of the immune system	3630	INS	ORPHA:552
HP:0002715	Abnormality of the immune system	3630	INS	ORPHA:99885
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:94089
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:79443
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:79444
HP:0002715	Abnormality of the immune system	8675	STX16	ORPHA:94089
HP:0002715	Abnormality of the immune system	7317	UBA1	OMIM:301054
HP:0002715	Abnormality of the immune system	79731	NARS2	ORPHA:79134
HP:0002715	Abnormality of the immune system	346171	ZFP57	ORPHA:99886
HP:0002715	Abnormality of the immune system	57061	HYMAI	ORPHA:99886
HP:0002715	Abnormality of the immune system	5325	PLAGL1	ORPHA:99886
HP:0002715	Abnormality of the immune system	7252	TSHB	ORPHA:90674
HP:0002715	Abnormality of the immune system	3458	IFNG	ORPHA:88
HP:0002715	Abnormality of the immune system	1439	CSF2RB	ORPHA:264675
HP:0002715	Abnormality of the immune system	1438	CSF2RA	ORPHA:264675
HP:0002715	Abnormality of the immune system	7201	TRHR	ORPHA:99832
HP:0002715	Abnormality of the immune system	2903	GRIN2A	ORPHA:98818
HP:0002715	Abnormality of the immune system	617	BCS1L	OMIM:124000
HP:0002715	Abnormality of the immune system	1134	CHRNA1	OMIM:601462
HP:0002715	Abnormality of the immune system	1134	CHRNA1	OMIM:608930
HP:0002715	Abnormality of the immune system	5913	RAPSN	OMIM:616326
HP:0002715	Abnormality of the immune system	199857	ALG14	OMIM:616227
HP:0002715	Abnormality of the immune system	1140	CHRNB1	OMIM:616314
HP:0002715	Abnormality of the immune system	1140	CHRNB1	OMIM:616313
HP:0002715	Abnormality of the immune system	1145	CHRNE	OMIM:616324
HP:0002715	Abnormality of the immune system	1144	CHRND	OMIM:616323
HP:0002715	Abnormality of the immune system	9581	PREPL	OMIM:616224
HP:0002715	Abnormality of the immune system	8292	COLQ	OMIM:603034
HP:0002715	Abnormality of the immune system	285489	DOK7	OMIM:254300
HP:0002715	Abnormality of the immune system	8318	CDC45	OMIM:617063
HP:0002715	Abnormality of the immune system	4914	NTRK1	ORPHA:642
HP:0002715	Abnormality of the immune system	5251	PHEX	ORPHA:89936
HP:0002715	Abnormality of the immune system	8074	FGF23	ORPHA:89937
HP:0002715	Abnormality of the immune system	1758	DMP1	ORPHA:289176
HP:0002715	Abnormality of the immune system	5167	ENPP1	ORPHA:289176
HP:0002715	Abnormality of the immune system	1747	DLX3	ORPHA:3352
HP:0002715	Abnormality of the immune system	3594	IL12RB1	ORPHA:319552
HP:0002715	Abnormality of the immune system	3560	IL2RB	ORPHA:85410
HP:0002715	Abnormality of the immune system	79722	ANKRD55	ORPHA:85410
HP:0002715	Abnormality of the immune system	26191	PTPN22	ORPHA:85410
HP:0002715	Abnormality of the immune system	919	CD247	ORPHA:85410
HP:0002715	Abnormality of the immune system	5771	PTPN2	ORPHA:85410
HP:0002715	Abnormality of the immune system	5205	ATP8B1	ORPHA:69665
HP:0002715	Abnormality of the immune system	8647	ABCB11	ORPHA:69665
HP:0002715	Abnormality of the immune system	9971	NR1H4	ORPHA:69665
HP:0002715	Abnormality of the immune system	5551	PRF1	ORPHA:540
HP:0002715	Abnormality of the immune system	8676	STX11	ORPHA:540
HP:0002715	Abnormality of the immune system	201294	UNC13D	ORPHA:540
HP:0002715	Abnormality of the immune system	6813	STXBP2	ORPHA:540
HP:0002715	Abnormality of the immune system	3162	HMOX1	OMIM:614034
HP:0002715	Abnormality of the immune system	3570	IL6R	OMIM:618944
HP:0002715	Abnormality of the immune system	5696	PSMB8	OMIM:256040
HP:0002715	Abnormality of the immune system	54440	SASH3	OMIM:301082
HP:0002715	Abnormality of the immune system	208	AKT2	ORPHA:293964
HP:0002715	Abnormality of the immune system	760	CA2	ORPHA:2785
HP:0002715	Abnormality of the immune system	9076	CLDN1	OMIM:607626
HP:0002715	Abnormality of the immune system	5994	RFXAP	ORPHA:572
HP:0002715	Abnormality of the immune system	4261	CIITA	ORPHA:572
HP:0002715	Abnormality of the immune system	5993	RFX5	ORPHA:572
HP:0002715	Abnormality of the immune system	8625	RFXANK	ORPHA:572
HP:0002715	Abnormality of the immune system	5966	REL	OMIM:619652
HP:0002715	Abnormality of the immune system	5244	ABCB4	ORPHA:69663
HP:0002715	Abnormality of the immune system	51473	DCDC2	OMIM:617394
HP:0002715	Abnormality of the immune system	959	CD40LG	OMIM:308230
HP:0002715	Abnormality of the immune system	113220	KIF12	OMIM:619662
HP:0002715	Abnormality of the immune system	590	BCHE	ORPHA:132
HP:0002715	Abnormality of the immune system	3939	LDHA	ORPHA:284426
HP:0002715	Abnormality of the immune system	57152	SLURP1	ORPHA:87503
HP:0002715	Abnormality of the immune system	54795	TRPM4	OMIM:618531
HP:0002715	Abnormality of the immune system	2248	FGF3	ORPHA:2791
HP:0002715	Abnormality of the immune system	55719	SLF2	OMIM:620184
HP:0002715	Abnormality of the immune system	56160	NSMCE3	OMIM:617241
HP:0002715	Abnormality of the immune system	3937	LCP2	OMIM:619374
HP:0002715	Abnormality of the immune system	5373	PMM2	ORPHA:79318
HP:0002715	Abnormality of the immune system	1130	LYST	ORPHA:167
HP:0002715	Abnormality of the immune system	171023	ASXL1	ORPHA:98850
HP:0002715	Abnormality of the immune system	867	CBL	ORPHA:98850
HP:0002715	Abnormality of the immune system	861	RUNX1	ORPHA:98850
HP:0002715	Abnormality of the immune system	6427	SRSF2	ORPHA:98850
HP:0002715	Abnormality of the immune system	50485	SMARCAL1	ORPHA:1830
HP:0002715	Abnormality of the immune system	4000	LMNA	ORPHA:300751
HP:0002715	Abnormality of the immune system	6117	RPA1	OMIM:619767
HP:0002715	Abnormality of the immune system	79991	STN1	OMIM:617341
HP:0002715	Abnormality of the immune system	135	ADORA2A	ORPHA:363549
HP:0002715	Abnormality of the immune system	60468	BACH2	OMIM:618394
HP:0002715	Abnormality of the immune system	4351	MPI	OMIM:602579
HP:0002715	Abnormality of the immune system	3265	HRAS	OMIM:218040
HP:0002715	Abnormality of the immune system	84196	USP48	ORPHA:96253
HP:0002715	Abnormality of the immune system	9101	USP8	ORPHA:96253
HP:0002715	Abnormality of the immune system	64072	CDH23	ORPHA:96253
HP:0002715	Abnormality of the immune system	2908	NR3C1	ORPHA:96253
HP:0002715	Abnormality of the immune system	673	BRAF	ORPHA:96253
HP:0002715	Abnormality of the immune system	29775	CARD10	OMIM:619632
HP:0002715	Abnormality of the immune system	22861	NLRP1	OMIM:617388
HP:0002715	Abnormality of the immune system	26040	SETBP1	OMIM:269150
HP:0002715	Abnormality of the immune system	10159	ATP6AP2	OMIM:301045
HP:0002715	Abnormality of the immune system	84342	COG8	OMIM:611182
HP:0002715	Abnormality of the immune system	27040	LAT	OMIM:617514
HP:0002715	Abnormality of the immune system	7174	TPP2	OMIM:619220
HP:0002715	Abnormality of the immune system	219972	MPEG1	OMIM:619223
HP:0002715	Abnormality of the immune system	57169	ZNFX1	OMIM:619644
HP:0002715	Abnormality of the immune system	6006	RHCE	ORPHA:71275
HP:0002715	Abnormality of the immune system	8547	FCN3	OMIM:613860
HP:0002715	Abnormality of the immune system	2271	FH	OMIM:606812
HP:0002715	Abnormality of the immune system	4629	MYH11	OMIM:619350
HP:0002715	Abnormality of the immune system	84992	PIGY	OMIM:616809
HP:0002715	Abnormality of the immune system	6452	SH3BP2	OMIM:118400
HP:0002715	Abnormality of the immune system	5422	POLA1	OMIM:301220
HP:0002715	Abnormality of the immune system	9051	PSTPIP1	OMIM:604416
HP:0002715	Abnormality of the immune system	8772	FADD	OMIM:613759
HP:0002715	Abnormality of the immune system	939	CD27	OMIM:615122
HP:0002715	Abnormality of the immune system	1499	CTNNB1	ORPHA:91414
HP:0002715	Abnormality of the immune system	9620	CELSR1	OMIM:619319
HP:0002715	Abnormality of the immune system	51163	DBR1	OMIM:619441
HP:0002715	Abnormality of the immune system	5611	DNAJC3	OMIM:616192
HP:0002715	Abnormality of the immune system	710	SERPING1	OMIM:106100
HP:0002715	Abnormality of the immune system	3665	IRF7	OMIM:616345
HP:0002715	Abnormality of the immune system	8288	EPX	OMIM:261500
HP:0002715	Abnormality of the immune system	3579	CXCR2	OMIM:619407
HP:0002715	Abnormality of the immune system	10621	POLR3F	OMIM:619872
HP:0002715	Abnormality of the immune system	5950	RBP4	OMIM:615147
HP:0002715	Abnormality of the immune system	23385	NCSTN	OMIM:142690
HP:0002715	Abnormality of the immune system	56983	POGLUT1	ORPHA:79145
HP:0002715	Abnormality of the immune system	23509	POFUT1	ORPHA:79145
HP:0002715	Abnormality of the immune system	84947	SERAC1	OMIM:614739
HP:0002715	Abnormality of the immune system	4627	MYH9	OMIM:155100
HP:0002715	Abnormality of the immune system	89970	RSPRY1	ORPHA:457395
HP:0002715	Abnormality of the immune system	51341	ZBTB7A	OMIM:619769
HP:0002715	Abnormality of the immune system	2070	EYA4	ORPHA:217622
HP:0002715	Abnormality of the immune system	4558	MT-TF	ORPHA:550
HP:0002715	Abnormality of the immune system	4572	MT-TQ	ORPHA:550
HP:0002715	Abnormality of the immune system	4513	MT-CO2	ORPHA:550
HP:0002715	Abnormality of the immune system	4578	MT-TW	ORPHA:550
HP:0002715	Abnormality of the immune system	4540	MT-ND5	ORPHA:550
HP:0002715	Abnormality of the immune system	4541	MT-ND6	ORPHA:550
HP:0002715	Abnormality of the immune system	4535	MT-ND1	ORPHA:550
HP:0002715	Abnormality of the immune system	4538	MT-ND4	ORPHA:550
HP:0002715	Abnormality of the immune system	4567	MT-TL1	ORPHA:550
HP:0002715	Abnormality of the immune system	4574	MT-TS1	ORPHA:550
HP:0002715	Abnormality of the immune system	4575	MT-TS2	ORPHA:550
HP:0002715	Abnormality of the immune system	4564	MT-TH	ORPHA:550
HP:0002715	Abnormality of the immune system	55765	INAVA	OMIM:618077
HP:0002715	Abnormality of the immune system	2984	GUCY2C	OMIM:614616
HP:0002715	Abnormality of the immune system	1001	CDH3	ORPHA:1573
HP:0002715	Abnormality of the immune system	340665	CYP26C1	ORPHA:398189
HP:0002715	Abnormality of the immune system	23149	FCHO1	OMIM:619164
HP:0002715	Abnormality of the immune system	4221	MEN1	ORPHA:652
HP:0002715	Abnormality of the immune system	1027	CDKN1B	ORPHA:652
HP:0002715	Abnormality of the immune system	1027	CDKN1B	ORPHA:276152
HP:0002715	Abnormality of the immune system	1026	CDKN1A	ORPHA:652
HP:0002715	Abnormality of the immune system	1031	CDKN2C	ORPHA:652
HP:0002715	Abnormality of the immune system	51135	IRAK4	OMIM:607676
HP:0002715	Abnormality of the immune system	5314	PKHD1	ORPHA:53035
HP:0002715	Abnormality of the immune system	7390	UROS	ORPHA:79277
HP:0002715	Abnormality of the immune system	2623	GATA1	ORPHA:79277
HP:0002715	Abnormality of the immune system	7389	UROD	ORPHA:95159
HP:0002715	Abnormality of the immune system	3105	HLA-A	ORPHA:179
HP:0002715	Abnormality of the immune system	2261	FGFR3	ORPHA:93262
HP:0002715	Abnormality of the immune system	224	ALDH3A2	ORPHA:816
HP:0002715	Abnormality of the immune system	3593	IL12B	ORPHA:3287
HP:0002715	Abnormality of the immune system	6945	MLX	ORPHA:3287
HP:0002715	Abnormality of the immune system	57105	CYSLTR2	ORPHA:39044
HP:0002715	Abnormality of the immune system	2776	GNAQ	ORPHA:39044
HP:0002715	Abnormality of the immune system	2767	GNA11	ORPHA:39044
HP:0002715	Abnormality of the immune system	23451	SF3B1	ORPHA:39044
HP:0002715	Abnormality of the immune system	114548	NLRP3	ORPHA:575
HP:0002715	Abnormality of the immune system	3655	ITGA6	ORPHA:79403
HP:0002715	Abnormality of the immune system	3691	ITGB4	ORPHA:79403
HP:0002715	Abnormality of the immune system	672	BRCA1	ORPHA:1333
HP:0002715	Abnormality of the immune system	285282	RABL3	ORPHA:1333
HP:0002715	Abnormality of the immune system	675	BRCA2	ORPHA:1333
HP:0002715	Abnormality of the immune system	79728	PALB2	ORPHA:1333
HP:0002715	Abnormality of the immune system	4089	SMAD4	ORPHA:1333
HP:0002715	Abnormality of the immune system	23022	PALLD	ORPHA:1333
HP:0002715	Abnormality of the immune system	825	CAPN3	OMIM:253600
HP:0002715	Abnormality of the immune system	3181	HNRNPA2B1	OMIM:615422
HP:0002715	Abnormality of the immune system	23175	LPIN1	ORPHA:99845
HP:0002715	Abnormality of the immune system	4512	MT-CO1	ORPHA:99845
HP:0002715	Abnormality of the immune system	4514	MT-CO3	ORPHA:99845
HP:0002715	Abnormality of the immune system	3908	LAMA2	ORPHA:258
HP:0002715	Abnormality of the immune system	22900	CARD8	OMIM:619079
HP:0002715	Abnormality of the immune system	60684	TRAPPC11	OMIM:615356
HP:0002715	Abnormality of the immune system	3376	IARS1	ORPHA:541423
HP:0002715	Abnormality of the immune system	81031	SLC2A10	ORPHA:3342
HP:0002715	Abnormality of the immune system	9719	ADAMTSL2	ORPHA:1901
HP:0002715	Abnormality of the immune system	9509	ADAMTS2	ORPHA:1901
HP:0002715	Abnormality of the immune system	2887	GRB10	ORPHA:96182
HP:0002715	Abnormality of the immune system	2743	GLRB	ORPHA:3197
HP:0002715	Abnormality of the immune system	2741	GLRA1	ORPHA:3197
HP:0002715	Abnormality of the immune system	10243	GPHN	ORPHA:3197
HP:0002715	Abnormality of the immune system	84896	ATAD1	ORPHA:3197
HP:0002715	Abnormality of the immune system	9152	SLC6A5	ORPHA:3197
HP:0002715	Abnormality of the immune system	5723	PSPH	ORPHA:79350
HP:0002715	Abnormality of the immune system	26227	PHGDH	ORPHA:79351
HP:0002715	Abnormality of the immune system	57623	ZFAT	OMIM:608175
HP:0002715	Abnormality of the immune system	7038	TG	OMIM:608175
HP:0002715	Abnormality of the immune system	7084	TK2	ORPHA:254886
HP:0002715	Abnormality of the immune system	9692	PRORP	OMIM:619737
HP:0002715	Abnormality of the immune system	56244	BTNL2	OMIM:612387
HP:0002715	Abnormality of the immune system	596	BCL2	ORPHA:545
HP:0002715	Abnormality of the immune system	604	BCL6	ORPHA:545
HP:0002715	Abnormality of the immune system	440275	EIF2AK4	ORPHA:199241
HP:0002715	Abnormality of the immune system	440275	EIF2AK4	OMIM:234810
HP:0002715	Abnormality of the immune system	2130	EWSR1	ORPHA:83469
HP:0002715	Abnormality of the immune system	7490	WT1	ORPHA:83469
HP:0002715	Abnormality of the immune system	5294	PIK3CG	OMIM:619802
HP:0002715	Abnormality of the immune system	3662	IRF4	ORPHA:3452
HP:0002715	Abnormality of the immune system	2859	GPR35	ORPHA:171
HP:0002715	Abnormality of the immune system	10507	SEMA4D	ORPHA:171
HP:0002715	Abnormality of the immune system	4485	MST1	ORPHA:171
HP:0002715	Abnormality of the immune system	6925	TCF4	ORPHA:171
HP:0002715	Abnormality of the immune system	998	CDC42	ORPHA:487796
HP:0002715	Abnormality of the immune system	54345	SOX18	ORPHA:69735
HP:0002715	Abnormality of the immune system	2050	EPHB4	ORPHA:137667
HP:0002715	Abnormality of the immune system	8314	BAP1	ORPHA:618
HP:0002715	Abnormality of the immune system	4286	MITF	ORPHA:618
HP:0002715	Abnormality of the immune system	1019	CDK4	ORPHA:618
HP:0002715	Abnormality of the immune system	4255	MGMT	ORPHA:618
HP:0002715	Abnormality of the immune system	54386	TERF2IP	ORPHA:618
HP:0002715	Abnormality of the immune system	4157	MC1R	ORPHA:618
HP:0002715	Abnormality of the immune system	65057	ACD	ORPHA:618
HP:0002715	Abnormality of the immune system	1029	CDKN2A	ORPHA:618
HP:0002715	Abnormality of the immune system	25913	POT1	ORPHA:618
HP:0002715	Abnormality of the immune system	1030	CDKN2B	ORPHA:618
HP:0002715	Abnormality of the immune system	22800	RRAS2	ORPHA:648
HP:0002715	Abnormality of the immune system	8216	LZTR1	ORPHA:648
HP:0002715	Abnormality of the immune system	6016	RIT1	ORPHA:648
HP:0002715	Abnormality of the immune system	6237	RRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	5894	RAF1	ORPHA:648
HP:0002715	Abnormality of the immune system	22808	MRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	200734	SPRED2	ORPHA:648
HP:0002715	Abnormality of the immune system	6654	SOS1	ORPHA:648
HP:0002715	Abnormality of the immune system	6655	SOS2	ORPHA:648
HP:0002715	Abnormality of the immune system	5781	PTPN11	ORPHA:648
HP:0002715	Abnormality of the immune system	5922	RASA2	ORPHA:648
HP:0002715	Abnormality of the immune system	5605	MAP2K2	ORPHA:638
HP:0002715	Abnormality of the immune system	4763	NF1	ORPHA:638
HP:0002715	Abnormality of the immune system	80781	COL18A1	ORPHA:1571
HP:0002715	Abnormality of the immune system	5745	PTH1R	ORPHA:296
HP:0002715	Abnormality of the immune system	3418	IDH2	ORPHA:296
HP:0002715	Abnormality of the immune system	3417	IDH1	ORPHA:296
HP:0002715	Abnormality of the immune system	3417	IDH1	ORPHA:99646
HP:0002715	Abnormality of the immune system	1312	COMT	ORPHA:567
HP:0002715	Abnormality of the immune system	221037	JMJD1C	ORPHA:567
HP:0002715	Abnormality of the immune system	2812	GP1BB	ORPHA:567
HP:0002715	Abnormality of the immune system	6239	RREB1	ORPHA:567
HP:0002715	Abnormality of the immune system	6899	TBX1	ORPHA:567
HP:0002715	Abnormality of the immune system	7290	HIRA	ORPHA:567
HP:0002715	Abnormality of the immune system	9632	SEC24C	ORPHA:567
HP:0002715	Abnormality of the immune system	7353	UFD1	ORPHA:567
HP:0002715	Abnormality of the immune system	421	ARVCF	ORPHA:567
HP:0002715	Abnormality of the immune system	5921	RASA1	ORPHA:90307
HP:0002715	Abnormality of the immune system	8974	P4HA2	ORPHA:397
HP:0002715	Abnormality of the immune system	7132	TNFRSF1A	ORPHA:32960
HP:0002715	Abnormality of the immune system	215	ABCD1	ORPHA:388
HP:0002715	Abnormality of the immune system	5979	RET	ORPHA:388
HP:0002715	Abnormality of the immune system	2668	GDNF	ORPHA:388
HP:0002715	Abnormality of the immune system	6608	SMO	ORPHA:388
HP:0002715	Abnormality of the immune system	1889	ECE1	ORPHA:388
HP:0002715	Abnormality of the immune system	1908	EDN3	ORPHA:388
HP:0002715	Abnormality of the immune system	223117	SEMA3D	ORPHA:388
HP:0002715	Abnormality of the immune system	1910	EDNRB	ORPHA:388
HP:0002715	Abnormality of the immune system	10512	SEMA3C	ORPHA:388
HP:0002715	Abnormality of the immune system	2064	ERBB2	ORPHA:388
HP:0002715	Abnormality of the immune system	4902	NRTN	ORPHA:388
HP:0002715	Abnormality of the immune system	2592	GALT	ORPHA:79239
HP:0002715	Abnormality of the immune system	1351	COX8A	OMIM:619059
HP:0002715	Abnormality of the immune system	130589	GALM	ORPHA:570422
HP:0002715	Abnormality of the immune system	10664	CTCF	ORPHA:363611
HP:0002715	Abnormality of the immune system	25802	LMOD1	OMIM:619362
HP:0002715	Abnormality of the immune system	25802	LMOD1	ORPHA:2241
HP:0002715	Abnormality of the immune system	4638	MYLK	ORPHA:2241
HP:0002715	Abnormality of the immune system	5824	PEX19	OMIM:614886
HP:0002715	Abnormality of the immune system	11342	RNF13	ORPHA:544503
HP:0002715	Abnormality of the immune system	9451	EIF2AK3	ORPHA:1667
HP:0002715	Abnormality of the immune system	1508	CTSB	ORPHA:50943
HP:0002715	Abnormality of the immune system	23600	AMACR	ORPHA:79095
HP:0002715	Abnormality of the immune system	23600	AMACR	OMIM:214950
HP:0002715	Abnormality of the immune system	80270	HSD3B7	OMIM:607765
HP:0002715	Abnormality of the immune system	63894	VIPAS39	OMIM:613404
HP:0002715	Abnormality of the immune system	26276	VPS33B	OMIM:208085
HP:0002715	Abnormality of the immune system	6718	AKR1D1	ORPHA:79303
HP:0002715	Abnormality of the immune system	2737	GLI3	ORPHA:672
HP:0002715	Abnormality of the immune system	29969	MDFIC	OMIM:620014
HP:0002715	Abnormality of the immune system	540	ATP7B	ORPHA:905
HP:0002715	Abnormality of the immune system	10166	SLC25A15	OMIM:238970
HP:0002715	Abnormality of the immune system	721	C4B	OMIM:614379
HP:0002715	Abnormality of the immune system	6499	SKIC2	OMIM:614602
HP:0002715	Abnormality of the immune system	5236	PGM1	OMIM:614921
HP:0002715	Abnormality of the immune system	3043	HBB	ORPHA:231226
HP:0002715	Abnormality of the immune system	3815	KIT	ORPHA:280794
HP:0002715	Abnormality of the immune system	3815	KIT	ORPHA:280785
HP:0002715	Abnormality of the immune system	3815	KIT	OMIM:154800
HP:0002715	Abnormality of the immune system	55777	MBD5	OMIM:156200
HP:0002715	Abnormality of the immune system	1650	DDOST	ORPHA:300536
HP:0002715	Abnormality of the immune system	1650	DDOST	OMIM:614507
HP:0002715	Abnormality of the immune system	2273	FHL1	OMIM:300280
HP:0002715	Abnormality of the immune system	4088	SMAD3	OMIM:613795
HP:0002715	Abnormality of the immune system	7046	TGFBR1	OMIM:609192
HP:0002715	Abnormality of the immune system	7048	TGFBR2	OMIM:610168
HP:0002715	Abnormality of the immune system	7042	TGFB2	OMIM:614816
HP:0002715	Abnormality of the immune system	7043	TGFB3	OMIM:615582
HP:0002715	Abnormality of the immune system	51645	PPIL1	OMIM:619301
HP:0002715	Abnormality of the immune system	51362	CDC40	OMIM:619302
HP:0002715	Abnormality of the immune system	9158	FIBP	OMIM:617107
HP:0002715	Abnormality of the immune system	9158	FIBP	ORPHA:500095
HP:0002715	Abnormality of the immune system	55553	SOX6	OMIM:618971
HP:0002715	Abnormality of the immune system	816	CAMK2B	OMIM:617799
HP:0002715	Abnormality of the immune system	93587	TRMT10A	OMIM:616033
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	4247	MGAT2	ORPHA:79329
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	7454	WAS	OMIM:301000
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	6772	STAT1	OMIM:614162
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	3718	JAK3	OMIM:600802
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	3718	JAK3	ORPHA:35078
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	57217	TTC7A	OMIM:243150
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	55388	MCM10	OMIM:619313
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	3561	IL2RG	OMIM:300400
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	4615	MYD88	OMIM:153600
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	5971	RELB	OMIM:617585
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	5788	PTPRC	OMIM:619924
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	6023	RMRP	OMIM:250250
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	7535	ZAP70	OMIM:617006
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	64919	BCL11B	OMIM:617237
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	200942	KLHDC8B	OMIM:236000
HP:0003348	Hyperalaninemia	9056	SLC7A7	ORPHA:470
HP:0003348	Hyperalaninemia	5091	PC	OMIM:266150
HP:0003348	Hyperalaninemia	51241	COX16	OMIM:619355
HP:0003348	Hyperalaninemia	55768	NGLY1	OMIM:615273
HP:0003348	Hyperalaninemia	26235	FBXL4	OMIM:615471
HP:0003348	Hyperalaninemia	54914	FOCAD	OMIM:619991
HP:0003348	Hyperalaninemia	498	ATP5F1A	OMIM:616045
HP:0003348	Hyperalaninemia	498	ATP5F1A	OMIM:620358
HP:0003348	Hyperalaninemia	11222	MRPL3	OMIM:614582
HP:0003348	Hyperalaninemia	763	CA5A	OMIM:615751
HP:0003348	Hyperalaninemia	10059	DNM1L	OMIM:614388
HP:0003348	Hyperalaninemia	25821	MTO1	OMIM:614702
HP:0003348	Hyperalaninemia	90624	LYRM7	OMIM:615838
HP:0003348	Hyperalaninemia	8659	ALDH4A1	ORPHA:79101
HP:0003348	Hyperalaninemia	57176	VARS2	OMIM:615917
HP:0003348	Hyperalaninemia	2203	FBP1	ORPHA:348
HP:0003348	Hyperalaninemia	80222	TARS2	OMIM:615918
HP:0003348	Hyperalaninemia	4535	MT-ND1	ORPHA:255210
HP:0003348	Hyperalaninemia	4536	MT-ND2	ORPHA:255210
HP:0003348	Hyperalaninemia	4537	MT-ND3	ORPHA:255210
HP:0003348	Hyperalaninemia	4538	MT-ND4	ORPHA:255210
HP:0003348	Hyperalaninemia	4567	MT-TL1	ORPHA:255210
HP:0003348	Hyperalaninemia	4578	MT-TW	ORPHA:255210
HP:0003348	Hyperalaninemia	4577	MT-TV	ORPHA:255210
HP:0003348	Hyperalaninemia	4508	MT-ATP6	ORPHA:255210
HP:0003348	Hyperalaninemia	4540	MT-ND5	ORPHA:255210
HP:0003348	Hyperalaninemia	4541	MT-ND6	ORPHA:255210
HP:0003348	Hyperalaninemia	4566	MT-TK	ORPHA:255210
HP:0003348	Hyperalaninemia	8050	PDHX	OMIM:245349
HP:0003348	Hyperalaninemia	4716	NDUFB10	OMIM:619003
HP:0003348	Hyperalaninemia	6341	SCO1	OMIM:619048
HP:0003348	Hyperalaninemia	7385	UQCRC2	OMIM:615160
HP:0003348	Hyperalaninemia	5160	PDHA1	OMIM:312170
HP:0003348	Hyperalaninemia	1352	COX10	OMIM:619046
HP:0003348	Hyperalaninemia	387787	LIPT2	OMIM:617668
HP:0003348	Hyperalaninemia	1841	DTYMK	OMIM:619847
HP:0003348	Hyperalaninemia	4285	MIPEP	OMIM:617228
HP:0003348	Hyperalaninemia	54931	TRMT10C	OMIM:616974
HP:0003348	Hyperalaninemia	5428	POLG	ORPHA:298
HP:0003348	Hyperalaninemia	1890	TYMP	ORPHA:298
HP:0003348	Hyperalaninemia	3980	LIG3	ORPHA:298
HP:0003348	Hyperalaninemia	50484	RRM2B	ORPHA:298
HP:0003348	Hyperalaninemia	1340	COX6B1	OMIM:619051
HP:0003348	Hyperalaninemia	90161	HS6ST2	OMIM:301025
HP:0003348	Hyperalaninemia	4718	NDUFC2	OMIM:619170
HP:0003348	Hyperalaninemia	1351	COX8A	OMIM:619059
HP:0003348	Hyperalaninemia	51116	MRPS2	OMIM:617950
HP:0003348	Hyperalaninemia	125988	MICOS13	OMIM:618329
HP:0003348	Hyperalaninemia	4724	NDUFS4	OMIM:252010
HP:0003348	Hyperalaninemia	162417	NAGS	ORPHA:927
HP:0003348	Hyperalaninemia	51079	NDUFA13	OMIM:618249
HP:0003348	Hyperalaninemia	291	SLC25A4	OMIM:615418
HP:0003348	Hyperalaninemia	54704	PDP1	ORPHA:79246
HP:0003348	Hyperalaninemia	9377	COX5A	OMIM:619064
HP:0003348	Hyperalaninemia	55863	TMEM126B	OMIM:618250
HP:0003348	Hyperalaninemia	54968	TMEM70	OMIM:614052
HP:0003348	Hyperalaninemia	3735	KARS1	OMIM:619147
HP:0003348	Hyperalaninemia	63931	MRPS14	OMIM:618378
HP:0003348	Hyperalaninemia	9054	NFS1	OMIM:619386
HP:0003348	Hyperalaninemia	57017	COQ9	OMIM:614654
HP:0003348	Hyperalaninemia	84947	SERAC1	OMIM:614739
HP:0003349	Low cholesterol esterification rate	10577	NPC2	OMIM:607625
HP:0003349	Low cholesterol esterification rate	4864	NPC1	OMIM:257220
HP:0033996	Microvillar PAS-positive secretory granules	6809	STX3	OMIM:619445
HP:0033995	Microvillus inclusions	6809	STX3	OMIM:619445
HP:0033997	Perinuclear cardiomyocyte vacuolization	6123	RPL3L	OMIM:619371
HP:0000847	Abnormality of renin-angiotensin system	10916	MAGED2	OMIM:300971
HP:0000847	Abnormality of renin-angiotensin system	7809	BSND	ORPHA:89938
HP:0000847	Abnormality of renin-angiotensin system	1188	CLCNKB	ORPHA:89938
HP:0000847	Abnormality of renin-angiotensin system	1188	CLCNKB	OMIM:607364
HP:0000847	Abnormality of renin-angiotensin system	1187	CLCNKA	ORPHA:89938
HP:0000847	Abnormality of renin-angiotensin system	3766	KCNJ10	OMIM:612780
HP:0000847	Abnormality of renin-angiotensin system	3766	KCNJ10	ORPHA:199343
HP:0000847	Abnormality of renin-angiotensin system	1583	CYP11A1	ORPHA:168558
HP:0000847	Abnormality of renin-angiotensin system	1583	CYP11A1	ORPHA:289548
HP:0000847	Abnormality of renin-angiotensin system	3643	INSR	ORPHA:508
HP:0000847	Abnormality of renin-angiotensin system	1585	CYP11B2	OMIM:203400
HP:0000847	Abnormality of renin-angiotensin system	1585	CYP11B2	OMIM:610600
HP:0000847	Abnormality of renin-angiotensin system	1585	CYP11B2	ORPHA:556030
HP:0000847	Abnormality of renin-angiotensin system	6340	SCNN1G	OMIM:620126
HP:0000847	Abnormality of renin-angiotensin system	6340	SCNN1G	ORPHA:171876
HP:0000847	Abnormality of renin-angiotensin system	6338	SCNN1B	OMIM:620125
HP:0000847	Abnormality of renin-angiotensin system	6338	SCNN1B	ORPHA:171876
HP:0000847	Abnormality of renin-angiotensin system	846	CASR	OMIM:601198
HP:0000847	Abnormality of renin-angiotensin system	6557	SLC12A1	OMIM:601678
HP:0000847	Abnormality of renin-angiotensin system	6337	SCNN1A	ORPHA:171876
HP:0000847	Abnormality of renin-angiotensin system	3758	KCNJ1	OMIM:241200
HP:0000847	Abnormality of renin-angiotensin system	4306	NR3C2	OMIM:177735
HP:0000847	Abnormality of renin-angiotensin system	6559	SLC12A3	OMIM:263800
HP:0000847	Abnormality of renin-angiotensin system	1811	SLC26A3	OMIM:214700
HP:0000847	Abnormality of renin-angiotensin system	3773	KCNJ16	OMIM:619406
HP:0000847	Abnormality of renin-angiotensin system	3284	HSD3B2	ORPHA:90791
HP:0000847	Abnormality of renin-angiotensin system	3291	HSD11B2	ORPHA:320
HP:0000847	Abnormality of renin-angiotensin system	3291	HSD11B2	OMIM:218030
HP:0000847	Abnormality of renin-angiotensin system	65125	WNK1	OMIM:614492
HP:0000847	Abnormality of renin-angiotensin system	5447	POR	OMIM:201750
HP:0000847	Abnormality of renin-angiotensin system	776	CACNA1D	OMIM:615474
HP:0000847	Abnormality of renin-angiotensin system	554	AVPR2	OMIM:300539
HP:0000847	Abnormality of renin-angiotensin system	1584	CYP11B1	OMIM:202010
HP:0000847	Abnormality of renin-angiotensin system	1584	CYP11B1	OMIM:103900
HP:0000847	Abnormality of renin-angiotensin system	1584	CYP11B1	ORPHA:90795
HP:0000847	Abnormality of renin-angiotensin system	3762	KCNJ5	OMIM:613677
HP:0000847	Abnormality of renin-angiotensin system	1586	CYP17A1	ORPHA:90793
HP:0000847	Abnormality of renin-angiotensin system	56246	MRAP	OMIM:607398
HP:0000847	Abnormality of renin-angiotensin system	23530	NNT	OMIM:614736
HP:0000847	Abnormality of renin-angiotensin system	4158	MC2R	OMIM:202200
HP:0000847	Abnormality of renin-angiotensin system	1181	CLCN2	ORPHA:404
HP:0000847	Abnormality of renin-angiotensin system	4221	MEN1	ORPHA:652
HP:0000847	Abnormality of renin-angiotensin system	1027	CDKN1B	ORPHA:652
HP:0000847	Abnormality of renin-angiotensin system	1026	CDKN1A	ORPHA:652
HP:0000847	Abnormality of renin-angiotensin system	1030	CDKN2B	ORPHA:652
HP:0000847	Abnormality of renin-angiotensin system	1031	CDKN2C	ORPHA:652
HP:0003351	Decreased circulating renin level	3291	HSD11B2	ORPHA:320
HP:0003351	Decreased circulating renin level	3291	HSD11B2	OMIM:218030
HP:0003351	Decreased circulating renin level	4306	NR3C2	OMIM:605115
HP:0003351	Decreased circulating renin level	6338	SCNN1B	OMIM:177200
HP:0003351	Decreased circulating renin level	65125	WNK1	OMIM:614492
HP:0003351	Decreased circulating renin level	5447	POR	OMIM:201750
HP:0003351	Decreased circulating renin level	6340	SCNN1G	OMIM:618114
HP:0003351	Decreased circulating renin level	6337	SCNN1A	OMIM:618126
HP:0003351	Decreased circulating renin level	776	CACNA1D	OMIM:615474
HP:0003351	Decreased circulating renin level	554	AVPR2	OMIM:300539
HP:0003351	Decreased circulating renin level	1584	CYP11B1	OMIM:202010
HP:0003351	Decreased circulating renin level	1584	CYP11B1	OMIM:103900
HP:0003351	Decreased circulating renin level	1584	CYP11B1	ORPHA:90795
HP:0003351	Decreased circulating renin level	3762	KCNJ5	OMIM:613677
HP:0003351	Decreased circulating renin level	1586	CYP17A1	ORPHA:90793
HP:0003352	Endopolyploidy on chromosome studies of bone marrow	10483	SEC23B	OMIM:224100
HP:0003352	Endopolyploidy on chromosome studies of bone marrow	146059	CDAN1	OMIM:224120
HP:0003353	Propionyl-CoA carboxylase deficiency	5095	PCCA	ORPHA:35
HP:0003353	Propionyl-CoA carboxylase deficiency	5095	PCCA	OMIM:606054
HP:0003353	Propionyl-CoA carboxylase deficiency	5096	PCCB	ORPHA:35
HP:0003353	Propionyl-CoA carboxylase deficiency	5096	PCCB	OMIM:606054
HP:0003353	Propionyl-CoA carboxylase deficiency	64087	MCCC2	OMIM:210210
HP:0003354	Hyperthreoninemia	3000	GUCY2D	OMIM:204000
HP:0003354	Hyperthreoninemia	10165	SLC25A13	OMIM:605814
HP:0003354	Hyperthreoninemia	10165	SLC25A13	ORPHA:247598
HP:0003355	Aminoaciduria	444	ASPH	OMIM:601552
HP:0003355	Aminoaciduria	4552	MTRR	OMIM:236270
HP:0003355	Aminoaciduria	4524	MTHFR	OMIM:236250
HP:0003355	Aminoaciduria	4524	MTHFR	ORPHA:395
HP:0003355	Aminoaciduria	3054	HCFC1	OMIM:309541
HP:0003355	Aminoaciduria	875	CBS	OMIM:236200
HP:0003355	Aminoaciduria	5826	ABCD4	OMIM:614857
HP:0003355	Aminoaciduria	4548	MTR	OMIM:250940
HP:0003355	Aminoaciduria	27249	MMADHC	OMIM:277410
HP:0003355	Aminoaciduria	2184	FAH	ORPHA:882
HP:0003355	Aminoaciduria	6514	SLC2A2	OMIM:227810
HP:0003355	Aminoaciduria	6514	SLC2A2	ORPHA:2088
HP:0003355	Aminoaciduria	1594	CYP27B1	OMIM:264700
HP:0003355	Aminoaciduria	1594	CYP27B1	ORPHA:289157
HP:0003355	Aminoaciduria	120227	CYP2R1	ORPHA:289157
HP:0003355	Aminoaciduria	6569	SLC34A1	OMIM:613388
HP:0003355	Aminoaciduria	6569	SLC34A1	ORPHA:3337
HP:0003355	Aminoaciduria	55768	NGLY1	ORPHA:404454
HP:0003355	Aminoaciduria	2108	ETFA	OMIM:231680
HP:0003355	Aminoaciduria	2109	ETFB	OMIM:231680
HP:0003355	Aminoaciduria	2110	ETFDH	OMIM:231680
HP:0003355	Aminoaciduria	1716	DGUOK	OMIM:251880
HP:0003355	Aminoaciduria	3034	HAL	OMIM:235800
HP:0003355	Aminoaciduria	3034	HAL	ORPHA:2157
HP:0003355	Aminoaciduria	4982	TNFRSF11B	OMIM:239000
HP:0003355	Aminoaciduria	8792	TNFRSF11A	OMIM:602080
HP:0003355	Aminoaciduria	8792	TNFRSF11A	OMIM:174810
HP:0003355	Aminoaciduria	5352	PLOD2	OMIM:609220
HP:0003355	Aminoaciduria	2731	GLDC	OMIM:605899
HP:0003355	Aminoaciduria	275	AMT	OMIM:605899
HP:0003355	Aminoaciduria	3712	IVD	OMIM:243500
HP:0003355	Aminoaciduria	153201	SLC36A2	OMIM:242600
HP:0003355	Aminoaciduria	153201	SLC36A2	ORPHA:42062
HP:0003355	Aminoaciduria	153201	SLC36A2	OMIM:138500
HP:0003355	Aminoaciduria	348932	SLC6A18	ORPHA:42062
HP:0003355	Aminoaciduria	54716	SLC6A20	ORPHA:42062
HP:0003355	Aminoaciduria	340024	SLC6A19	ORPHA:42062
HP:0003355	Aminoaciduria	34	ACADM	OMIM:201450
HP:0003355	Aminoaciduria	5625	PRODH	OMIM:239500
HP:0003355	Aminoaciduria	64087	MCCC2	OMIM:210210
HP:0003355	Aminoaciduria	8659	ALDH4A1	OMIM:239510
HP:0003355	Aminoaciduria	5095	PCCA	OMIM:606054
HP:0003355	Aminoaciduria	5096	PCCB	OMIM:606054
HP:0003355	Aminoaciduria	9581	PREPL	OMIM:616224
HP:0003355	Aminoaciduria	9581	PREPL	ORPHA:163690
HP:0003355	Aminoaciduria	9581	PREPL	ORPHA:163693
HP:0003355	Aminoaciduria	5495	PPM1B	ORPHA:163693
HP:0003355	Aminoaciduria	79823	CAMKMT	ORPHA:163693
HP:0003355	Aminoaciduria	26873	OPLAH	OMIM:260005
HP:0003355	Aminoaciduria	1491	CTH	OMIM:219500
HP:0003355	Aminoaciduria	1491	CTH	ORPHA:212
HP:0003355	Aminoaciduria	55788	LMBRD1	OMIM:277380
HP:0003355	Aminoaciduria	25974	MMACHC	OMIM:277400
HP:0003355	Aminoaciduria	5052	PRDX1	OMIM:277400
HP:0003355	Aminoaciduria	10243	GPHN	OMIM:615501
HP:0003355	Aminoaciduria	4337	MOCS1	OMIM:252150
HP:0003355	Aminoaciduria	4338	MOCS2	OMIM:252160
HP:0003355	Aminoaciduria	3000	GUCY2D	OMIM:204000
HP:0003355	Aminoaciduria	133686	NADK2	OMIM:616034
HP:0003355	Aminoaciduria	10157	AASS	ORPHA:2203
HP:0003355	Aminoaciduria	10157	AASS	OMIM:238700
HP:0003355	Aminoaciduria	10157	AASS	ORPHA:3124
HP:0003355	Aminoaciduria	435	ASL	ORPHA:23
HP:0003355	Aminoaciduria	435	ASL	OMIM:207900
HP:0003355	Aminoaciduria	1497	CTNS	OMIM:219800
HP:0003355	Aminoaciduria	1497	CTNS	ORPHA:411629
HP:0003355	Aminoaciduria	1497	CTNS	ORPHA:411634
HP:0003355	Aminoaciduria	6505	SLC1A1	OMIM:222730
HP:0003355	Aminoaciduria	4952	OCRL	OMIM:300555
HP:0003355	Aminoaciduria	4952	OCRL	OMIM:309000
HP:0003355	Aminoaciduria	4952	OCRL	ORPHA:534
HP:0003355	Aminoaciduria	51095	TRNT1	OMIM:616084
HP:0003355	Aminoaciduria	4574	MT-TS1	OMIM:220110
HP:0003355	Aminoaciduria	4570	MT-TN	OMIM:220110
HP:0003355	Aminoaciduria	6834	SURF1	OMIM:220110
HP:0003355	Aminoaciduria	54914	FOCAD	OMIM:619991
HP:0003355	Aminoaciduria	2592	GALT	OMIM:230400
HP:0003355	Aminoaciduria	84334	COA8	ORPHA:436271
HP:0003355	Aminoaciduria	10667	FARS2	OMIM:614946
HP:0003355	Aminoaciduria	1184	CLCN5	OMIM:308990
HP:0003355	Aminoaciduria	1184	CLCN5	OMIM:300009
HP:0003355	Aminoaciduria	5830	PEX5	OMIM:214110
HP:0003355	Aminoaciduria	1373	CPS1	ORPHA:147
HP:0003355	Aminoaciduria	5009	OTC	ORPHA:664
HP:0003355	Aminoaciduria	7372	UMPS	ORPHA:30
HP:0003355	Aminoaciduria	617	BCS1L	OMIM:603358
HP:0003355	Aminoaciduria	617	BCS1L	OMIM:124000
HP:0003355	Aminoaciduria	4141	MARS1	OMIM:615486
HP:0003355	Aminoaciduria	2628	GATM	OMIM:134600
HP:0003355	Aminoaciduria	137682	NDUFAF6	OMIM:618913
HP:0003355	Aminoaciduria	55503	TRPV6	ORPHA:417
HP:0003355	Aminoaciduria	846	CASR	ORPHA:417
HP:0003355	Aminoaciduria	846	CASR	OMIM:239200
HP:0003355	Aminoaciduria	2729	GCLC	ORPHA:33574
HP:0003355	Aminoaciduria	4758	NEU1	ORPHA:812
HP:0003355	Aminoaciduria	1962	EHHADH	OMIM:615605
HP:0003355	Aminoaciduria	540	ATP7B	OMIM:277900
HP:0003355	Aminoaciduria	5189	PEX1	OMIM:214100
HP:0003355	Aminoaciduria	4942	OAT	ORPHA:414
HP:0003355	Aminoaciduria	2271	FH	OMIM:606812
HP:0003355	Aminoaciduria	10559	SLC35A1	OMIM:603585
HP:0003355	Aminoaciduria	100131801	PET100	OMIM:619055
HP:0003355	Aminoaciduria	10841	FTCD	OMIM:229100
HP:0003355	Aminoaciduria	10560	SLC19A2	OMIM:249270
HP:0003355	Aminoaciduria	7084	TK2	OMIM:609560
HP:0003355	Aminoaciduria	3172	HNF4A	OMIM:616026
HP:0003355	Aminoaciduria	50628	GEMIN4	OMIM:617913
HP:0003355	Aminoaciduria	8942	KYNU	OMIM:236800
HP:0003355	Aminoaciduria	4668	NAGA	OMIM:609242
HP:0003355	Aminoaciduria	91647	ATPAF2	OMIM:604273
HP:0003355	Aminoaciduria	3081	HGD	ORPHA:56
HP:0003355	Aminoaciduria	9056	SLC7A7	OMIM:222700
HP:0003355	Aminoaciduria	26276	VPS33B	OMIM:208085
HP:0003355	Aminoaciduria	8803	SUCLA2	OMIM:612073
HP:0003355	Aminoaciduria	8803	SUCLA2	ORPHA:1933
HP:0003355	Aminoaciduria	132158	GLYCTK	OMIM:220120
HP:0003355	Aminoaciduria	9054	NFS1	OMIM:619386
HP:0003355	Aminoaciduria	50484	RRM2B	OMIM:612075
HP:0003355	Aminoaciduria	63894	VIPAS39	OMIM:613404
HP:0003355	Aminoaciduria	26275	HIBCH	OMIM:250620
HP:0003355	Aminoaciduria	2068	ERCC2	ORPHA:910
HP:0003355	Aminoaciduria	7507	XPA	ORPHA:910
HP:0003355	Aminoaciduria	2071	ERCC3	ORPHA:910
HP:0003355	Aminoaciduria	7508	XPC	ORPHA:910
HP:0003355	Aminoaciduria	1643	DDB2	ORPHA:910
HP:0003355	Aminoaciduria	2072	ERCC4	ORPHA:910
HP:0003355	Aminoaciduria	2073	ERCC5	ORPHA:910
HP:0003355	Aminoaciduria	2582	GALE	OMIM:230350
HP:0003355	Aminoaciduria	11005	SPINK5	ORPHA:634
HP:0003355	Aminoaciduria	6999	TDO2	OMIM:600627
HP:0003355	Aminoaciduria	11136	SLC7A9	OMIM:220100
HP:0003355	Aminoaciduria	6519	SLC3A1	OMIM:220100
HP:0003355	Aminoaciduria	229	ALDOB	OMIM:229600
HP:0003355	Aminoaciduria	383	ARG1	OMIM:207800
HP:0003355	Aminoaciduria	383	ARG1	ORPHA:90
HP:0003355	Aminoaciduria	57393	CLTRN	ORPHA:2116
HP:0003355	Aminoaciduria	1757	SARDH	ORPHA:3129
HP:0003355	Aminoaciduria	7381	UQCRB	OMIM:615158
HP:0003355	Aminoaciduria	51601	LIPT1	OMIM:616299
HP:0003355	Aminoaciduria	10165	SLC25A13	OMIM:603471
HP:0003355	Aminoaciduria	85007	PHYKPL	OMIM:615011
HP:0003355	Aminoaciduria	29958	DMGDH	OMIM:605850
HP:0003355	Aminoaciduria	443	ASPA	OMIM:271900
HP:0003355	Aminoaciduria	64849	SLC13A3	OMIM:618384
HP:0003355	Aminoaciduria	6821	SUOX	OMIM:272300
HP:0003355	Aminoaciduria	64902	AGXT2	OMIM:210100
HP:0003355	Aminoaciduria	200205	IBA57	OMIM:615330
HP:0003355	Aminoaciduria	10166	SLC25A15	OMIM:238970
HP:0003355	Aminoaciduria	2678	GGT1	OMIM:231950
HP:0003355	Aminoaciduria	4329	ALDH6A1	OMIM:614105
HP:0003355	Aminoaciduria	2937	GSS	OMIM:266130
HP:0003355	Aminoaciduria	2937	GSS	OMIM:231900
HP:0003355	Aminoaciduria	55526	DHTKD1	OMIM:204750
HP:0003355	Aminoaciduria	27247	NFU1	OMIM:605711
HP:0003355	Aminoaciduria	3954	LETM1	OMIM:620089
HP:0003355	Aminoaciduria	7915	ALDH5A1	OMIM:271980
HP:0001943	Hypoglycemia	1374	CPT1A	ORPHA:156
HP:0001943	Hypoglycemia	1534	CYB561	OMIM:618182
HP:0001943	Hypoglycemia	10128	LRPPRC	OMIM:220111
HP:0001943	Hypoglycemia	3376	IARS1	OMIM:617093
HP:0001943	Hypoglycemia	54539	NDUFB11	ORPHA:2609
HP:0001943	Hypoglycemia	25915	NDUFAF3	ORPHA:2609
HP:0001943	Hypoglycemia	51103	NDUFAF1	ORPHA:2609
HP:0001943	Hypoglycemia	91942	NDUFAF2	ORPHA:2609
HP:0001943	Hypoglycemia	51300	TIMMDC1	ORPHA:2609
HP:0001943	Hypoglycemia	4716	NDUFB10	ORPHA:2609
HP:0001943	Hypoglycemia	4723	NDUFV1	ORPHA:2609
HP:0001943	Hypoglycemia	55572	FOXRED1	ORPHA:2609
HP:0001943	Hypoglycemia	55572	FOXRED1	OMIM:618241
HP:0001943	Hypoglycemia	284184	NDUFAF8	ORPHA:2609
HP:0001943	Hypoglycemia	55863	TMEM126B	ORPHA:2609
HP:0001943	Hypoglycemia	4535	MT-ND1	ORPHA:2609
HP:0001943	Hypoglycemia	4537	MT-ND3	ORPHA:2609
HP:0001943	Hypoglycemia	4729	NDUFV2	ORPHA:2609
HP:0001943	Hypoglycemia	4694	NDUFA1	ORPHA:2609
HP:0001943	Hypoglycemia	4720	NDUFS2	ORPHA:2609
HP:0001943	Hypoglycemia	4724	NDUFS4	ORPHA:2609
HP:0001943	Hypoglycemia	4724	NDUFS4	OMIM:252010
HP:0001943	Hypoglycemia	4726	NDUFS6	ORPHA:2609
HP:0001943	Hypoglycemia	4728	NDUFS8	ORPHA:2609
HP:0001943	Hypoglycemia	4722	NDUFS3	ORPHA:2609
HP:0001943	Hypoglycemia	79133	NDUFAF5	ORPHA:2609
HP:0001943	Hypoglycemia	126328	NDUFA11	ORPHA:2609
HP:0001943	Hypoglycemia	4709	NDUFB3	ORPHA:2609
HP:0001943	Hypoglycemia	80224	NUBPL	ORPHA:2609
HP:0001943	Hypoglycemia	29078	NDUFAF4	ORPHA:2609
HP:0001943	Hypoglycemia	374291	NDUFS7	ORPHA:2609
HP:0001943	Hypoglycemia	4700	NDUFA6	ORPHA:2609
HP:0001943	Hypoglycemia	4700	NDUFA6	OMIM:618253
HP:0001943	Hypoglycemia	4536	MT-ND2	ORPHA:2609
HP:0001943	Hypoglycemia	4719	NDUFS1	ORPHA:2609
HP:0001943	Hypoglycemia	4715	NDUFB9	ORPHA:2609
HP:0001943	Hypoglycemia	25821	MTO1	OMIM:614702
HP:0001943	Hypoglycemia	23417	MLYCD	OMIM:248360
HP:0001943	Hypoglycemia	3481	IGF2	ORPHA:231140
HP:0001943	Hypoglycemia	3481	IGF2	ORPHA:397590
HP:0001943	Hypoglycemia	283120	H19	ORPHA:231140
HP:0001943	Hypoglycemia	3158	HMGCS2	ORPHA:35701
HP:0001943	Hypoglycemia	6341	SCO1	OMIM:619048
HP:0001943	Hypoglycemia	5015	OTX2	OMIM:613986
HP:0001943	Hypoglycemia	5015	OTX2	ORPHA:95494
HP:0001943	Hypoglycemia	55163	PNPO	ORPHA:79096
HP:0001943	Hypoglycemia	55163	PNPO	OMIM:610090
HP:0001943	Hypoglycemia	1738	DLD	ORPHA:2394
HP:0001943	Hypoglycemia	1738	DLD	OMIM:246900
HP:0001943	Hypoglycemia	5105	PCK1	OMIM:261680
HP:0001943	Hypoglycemia	100131801	PET100	OMIM:619055
HP:0001943	Hypoglycemia	2538	G6PC1	OMIM:232200
HP:0001943	Hypoglycemia	36	ACADSB	OMIM:610006
HP:0001943	Hypoglycemia	64087	MCCC2	OMIM:210210
HP:0001943	Hypoglycemia	64087	MCCC2	ORPHA:6
HP:0001943	Hypoglycemia	501	ALDH7A1	ORPHA:3006
HP:0001943	Hypoglycemia	11212	PLPBP	ORPHA:3006
HP:0001943	Hypoglycemia	2697	GJA1	ORPHA:2710
HP:0001943	Hypoglycemia	1716	DGUOK	OMIM:251880
HP:0001943	Hypoglycemia	5095	PCCA	OMIM:606054
HP:0001943	Hypoglycemia	5095	PCCA	ORPHA:35
HP:0001943	Hypoglycemia	5096	PCCB	OMIM:606054
HP:0001943	Hypoglycemia	5096	PCCB	ORPHA:35
HP:0001943	Hypoglycemia	8802	SUCLG1	OMIM:245400
HP:0001943	Hypoglycemia	8802	SUCLG1	ORPHA:17
HP:0001943	Hypoglycemia	2688	GH1	OMIM:262400
HP:0001943	Hypoglycemia	5528	PPP2R5D	OMIM:616355
HP:0001943	Hypoglycemia	5528	PPP2R5D	ORPHA:457279
HP:0001943	Hypoglycemia	23312	DMXL2	OMIM:616113
HP:0001943	Hypoglycemia	23312	DMXL2	ORPHA:453533
HP:0001943	Hypoglycemia	132158	GLYCTK	OMIM:220120
HP:0001943	Hypoglycemia	790955	UQCC3	OMIM:616111
HP:0001943	Hypoglycemia	55065	SLC52A1	OMIM:615026
HP:0001943	Hypoglycemia	84342	COG8	ORPHA:95428
HP:0001943	Hypoglycemia	56922	MCCC1	OMIM:210200
HP:0001943	Hypoglycemia	56922	MCCC1	ORPHA:6
HP:0001943	Hypoglycemia	84947	SERAC1	OMIM:614739
HP:0001943	Hypoglycemia	3265	HRAS	OMIM:218040
HP:0001943	Hypoglycemia	129563	DIS3L2	OMIM:267000
HP:0001943	Hypoglycemia	4953	ODC1	OMIM:619075
HP:0001943	Hypoglycemia	5091	PC	OMIM:266150
HP:0001943	Hypoglycemia	1621	DBH	ORPHA:230
HP:0001943	Hypoglycemia	51594	NBAS	OMIM:616483
HP:0001943	Hypoglycemia	5447	POR	OMIM:201750
HP:0001943	Hypoglycemia	1629	DBT	OMIM:248600
HP:0001943	Hypoglycemia	593	BCKDHA	OMIM:248600
HP:0001943	Hypoglycemia	594	BCKDHB	OMIM:248600
HP:0001943	Hypoglycemia	8879	SGPL1	OMIM:617575
HP:0001943	Hypoglycemia	3028	HSD17B10	OMIM:300438
HP:0001943	Hypoglycemia	3028	HSD17B10	ORPHA:391428
HP:0001943	Hypoglycemia	5255	PHKA1	OMIM:300559
HP:0001943	Hypoglycemia	51660	MPC1	OMIM:614741
HP:0001943	Hypoglycemia	89884	LHX4	ORPHA:226307
HP:0001943	Hypoglycemia	89884	LHX4	ORPHA:95496
HP:0001943	Hypoglycemia	89884	LHX4	ORPHA:95494
HP:0001943	Hypoglycemia	89884	LHX4	OMIM:262700
HP:0001943	Hypoglycemia	8022	LHX3	ORPHA:226307
HP:0001943	Hypoglycemia	5449	POU1F1	ORPHA:226307
HP:0001943	Hypoglycemia	5449	POU1F1	ORPHA:95494
HP:0001943	Hypoglycemia	8820	HESX1	ORPHA:226307
HP:0001943	Hypoglycemia	8820	HESX1	ORPHA:95496
HP:0001943	Hypoglycemia	8820	HESX1	ORPHA:95494
HP:0001943	Hypoglycemia	55699	IARS2	OMIM:616007
HP:0001943	Hypoglycemia	7381	UQCRB	OMIM:615158
HP:0001943	Hypoglycemia	4519	MT-CYB	ORPHA:137675
HP:0001943	Hypoglycemia	79753	SNIP1	OMIM:614501
HP:0001943	Hypoglycemia	5836	PYGL	OMIM:232700
HP:0001943	Hypoglycemia	5836	PYGL	ORPHA:369
HP:0001943	Hypoglycemia	5728	PTEN	ORPHA:109
HP:0001943	Hypoglycemia	10056	FARSB	OMIM:613658
HP:0001943	Hypoglycemia	128674	PROKR2	ORPHA:95496
HP:0001943	Hypoglycemia	55717	WDR11	ORPHA:95496
HP:0001943	Hypoglycemia	6091	ROBO1	ORPHA:95496
HP:0001943	Hypoglycemia	50937	CDON	ORPHA:95496
HP:0001943	Hypoglycemia	23432	GPR161	ORPHA:95496
HP:0001943	Hypoglycemia	2203	FBP1	ORPHA:348
HP:0001943	Hypoglycemia	2203	FBP1	OMIM:229700
HP:0001943	Hypoglycemia	2736	GLI2	ORPHA:95494
HP:0001943	Hypoglycemia	3170	FOXA2	ORPHA:95494
HP:0001943	Hypoglycemia	7385	UQCRC2	OMIM:615160
HP:0001943	Hypoglycemia	2908	NR3C1	OMIM:615962
HP:0001943	Hypoglycemia	2908	NR3C1	ORPHA:786
HP:0001943	Hypoglycemia	1028	CDKN1C	ORPHA:397590
HP:0001943	Hypoglycemia	5324	PLAG1	ORPHA:397590
HP:0001943	Hypoglycemia	8091	HMGA2	ORPHA:397590
HP:0001943	Hypoglycemia	471	ATIC	OMIM:608688
HP:0001943	Hypoglycemia	1962	EHHADH	ORPHA:3337
HP:0001943	Hypoglycemia	2628	GATM	ORPHA:3337
HP:0001943	Hypoglycemia	137682	NDUFAF6	ORPHA:3337
HP:0001943	Hypoglycemia	6569	SLC34A1	ORPHA:3337
HP:0001943	Hypoglycemia	38	ACAT1	ORPHA:134
HP:0001943	Hypoglycemia	34	ACADM	ORPHA:42
HP:0001943	Hypoglycemia	34	ACADM	OMIM:201450
HP:0001943	Hypoglycemia	775	CACNA1C	OMIM:601005
HP:0001943	Hypoglycemia	7030	TFE3	OMIM:301066
HP:0001943	Hypoglycemia	2239	GPC4	ORPHA:373
HP:0001943	Hypoglycemia	2719	GPC3	ORPHA:373
HP:0001943	Hypoglycemia	54941	RNF125	OMIM:616260
HP:0001943	Hypoglycemia	125988	MICOS13	OMIM:618329
HP:0001943	Hypoglycemia	8565	YARS1	OMIM:619418
HP:0001943	Hypoglycemia	3172	HNF4A	OMIM:616026
HP:0001943	Hypoglycemia	2184	FAH	OMIM:276700
HP:0001943	Hypoglycemia	178	AGL	ORPHA:366
HP:0001943	Hypoglycemia	178	AGL	OMIM:232400
HP:0001943	Hypoglycemia	197322	ACSF3	ORPHA:289504
HP:0001943	Hypoglycemia	5256	PHKA2	ORPHA:264580
HP:0001943	Hypoglycemia	5256	PHKA2	OMIM:306000
HP:0001943	Hypoglycemia	5261	PHKG2	ORPHA:264580
HP:0001943	Hypoglycemia	5261	PHKG2	OMIM:613027
HP:0001943	Hypoglycemia	6658	SOX3	ORPHA:90695
HP:0001943	Hypoglycemia	3479	IGF1	ORPHA:73272
HP:0001943	Hypoglycemia	91949	COG7	OMIM:608779
HP:0001943	Hypoglycemia	763	CA5A	OMIM:615751
HP:0001943	Hypoglycemia	2690	GHR	ORPHA:314802
HP:0001943	Hypoglycemia	2690	GHR	ORPHA:633
HP:0001943	Hypoglycemia	256297	PTF1A	OMIM:609069
HP:0001943	Hypoglycemia	5009	OTC	ORPHA:664
HP:0001943	Hypoglycemia	549	AUH	ORPHA:67046
HP:0001943	Hypoglycemia	10525	HYOU1	OMIM:233600
HP:0001943	Hypoglycemia	2710	GK	OMIM:307030
HP:0001943	Hypoglycemia	2592	GALT	ORPHA:79239
HP:0001943	Hypoglycemia	2530	FUT8	OMIM:618005
HP:0001943	Hypoglycemia	51116	MRPS2	OMIM:617950
HP:0001943	Hypoglycemia	513	ATP5F1D	OMIM:618120
HP:0001943	Hypoglycemia	7019	TFAM	OMIM:617156
HP:0001943	Hypoglycemia	10352	WARS2	OMIM:617710
HP:0001943	Hypoglycemia	4594	MMUT	OMIM:251000
HP:0001943	Hypoglycemia	538	ATP7A	ORPHA:565
HP:0001943	Hypoglycemia	9971	NR1H4	OMIM:617049
HP:0001943	Hypoglycemia	2475	MTOR	OMIM:616638
HP:0001943	Hypoglycemia	2584	GALK1	ORPHA:79237
HP:0001943	Hypoglycemia	1589	CYP21A2	OMIM:201910
HP:0001943	Hypoglycemia	51241	COX16	OMIM:619355
HP:0001943	Hypoglycemia	54809	SAMD9	OMIM:617053
HP:0001943	Hypoglycemia	9150	CTDP1	ORPHA:48431
HP:0001943	Hypoglycemia	788	SLC25A20	OMIM:212138
HP:0001943	Hypoglycemia	80036	TRPM3	OMIM:620224
HP:0001943	Hypoglycemia	5106	PCK2	OMIM:261650
HP:0001943	Hypoglycemia	55278	QRSL1	OMIM:618835
HP:0001943	Hypoglycemia	28957	MRPS28	OMIM:618958
HP:0001943	Hypoglycemia	5188	GATB	OMIM:618838
HP:0001943	Hypoglycemia	93587	TRMT10A	ORPHA:391408
HP:0001943	Hypoglycemia	3030	HADHA	OMIM:609016
HP:0001943	Hypoglycemia	3030	HADHA	ORPHA:5
HP:0001943	Hypoglycemia	283459	GATC	OMIM:618839
HP:0001943	Hypoglycemia	5495	PPM1B	ORPHA:163693
HP:0001943	Hypoglycemia	6519	SLC3A1	ORPHA:163693
HP:0001943	Hypoglycemia	9581	PREPL	ORPHA:163693
HP:0001943	Hypoglycemia	79823	CAMKMT	ORPHA:163693
HP:0001943	Hypoglycemia	55252	ASXL2	OMIM:617190
HP:0001943	Hypoglycemia	51081	MRPS7	OMIM:617872
HP:0001943	Hypoglycemia	1537	CYC1	OMIM:615453
HP:0001943	Hypoglycemia	5236	PGM1	OMIM:614921
HP:0001943	Hypoglycemia	25974	MMACHC	ORPHA:79282
HP:0001943	Hypoglycemia	2639	GCDH	OMIM:231670
HP:0001943	Hypoglycemia	1968	EIF2S3	OMIM:300148
HP:0001943	Hypoglycemia	9054	NFS1	OMIM:619386
HP:0001943	Hypoglycemia	7388	UQCRH	OMIM:620137
HP:0001943	Hypoglycemia	2693	GHSR	ORPHA:314811
HP:0001943	Hypoglycemia	2108	ETFA	OMIM:231680
HP:0001943	Hypoglycemia	2109	ETFB	OMIM:231680
HP:0001943	Hypoglycemia	2110	ETFDH	OMIM:231680
HP:0001943	Hypoglycemia	1376	CPT2	OMIM:608836
HP:0001943	Hypoglycemia	3155	HMGCL	ORPHA:20
HP:0001943	Hypoglycemia	208	AKT2	ORPHA:293964
HP:0001943	Hypoglycemia	5979	RET	ORPHA:1848
HP:0001943	Hypoglycemia	8516	ITGA8	ORPHA:1848
HP:0001943	Hypoglycemia	26281	FGF20	ORPHA:1848
HP:0001943	Hypoglycemia	2674	GFRA1	ORPHA:1848
HP:0001943	Hypoglycemia	7484	WNT9B	ORPHA:1848
HP:0001943	Hypoglycemia	80000	GREB1L	ORPHA:1848
HP:0001943	Hypoglycemia	28976	ACAD9	ORPHA:99901
HP:0001943	Hypoglycemia	37	ACADVL	OMIM:201475
HP:0001943	Hypoglycemia	3032	HADHB	ORPHA:746
HP:0001943	Hypoglycemia	22845	DOLK	OMIM:610768
HP:0001943	Hypoglycemia	4791	NFKB2	ORPHA:293978
HP:0001943	Hypoglycemia	5058	PAK1	OMIM:618158
HP:0001943	Hypoglycemia	4665	NAB2	ORPHA:2126
HP:0001943	Hypoglycemia	6778	STAT6	ORPHA:2126
HP:0001943	Hypoglycemia	4358	MPV17	OMIM:256810
HP:0001943	Hypoglycemia	5257	PHKB	ORPHA:79240
HP:0001943	Hypoglycemia	84919	PPP1R15B	OMIM:616817
HP:0001943	Hypoglycemia	617	BCS1L	OMIM:124000
HP:0001943	Hypoglycemia	79087	ALG12	ORPHA:79324
HP:0001943	Hypoglycemia	6584	SLC22A5	OMIM:212140
HP:0001943	Hypoglycemia	8462	KLF11	ORPHA:552
HP:0001943	Hypoglycemia	26060	APPL1	ORPHA:552
HP:0001943	Hypoglycemia	640	BLK	ORPHA:552
HP:0001943	Hypoglycemia	1056	CEL	ORPHA:552
HP:0001943	Hypoglycemia	4760	NEUROD1	ORPHA:552
HP:0001943	Hypoglycemia	3651	PDX1	ORPHA:552
HP:0001943	Hypoglycemia	5078	PAX4	ORPHA:552
HP:0001943	Hypoglycemia	3630	INS	ORPHA:552
HP:0001943	Hypoglycemia	8925	HERC1	ORPHA:457359
HP:0001943	Hypoglycemia	84340	GFM2	ORPHA:565624
HP:0001943	Hypoglycemia	51422	PRKAG2	OMIM:261740
HP:0001943	Hypoglycemia	64324	NSD1	OMIM:117550
HP:0001943	Hypoglycemia	64324	NSD1	ORPHA:821
HP:0001943	Hypoglycemia	10984	KCNQ1OT1	OMIM:130650
HP:0001943	Hypoglycemia	3784	KCNQ1	OMIM:130650
HP:0001943	Hypoglycemia	131118	DNAJC19	ORPHA:66634
HP:0001943	Hypoglycemia	1583	CYP11A1	ORPHA:168558
HP:0001943	Hypoglycemia	1583	CYP11A1	ORPHA:289548
HP:0001943	Hypoglycemia	81570	CLPB	ORPHA:445038
HP:0001943	Hypoglycemia	81570	CLPB	OMIM:616271
HP:0001943	Hypoglycemia	29072	SETD2	ORPHA:821
HP:0001943	Hypoglycemia	10297	APC2	ORPHA:821
HP:0001943	Hypoglycemia	10943	MSL3	OMIM:301032
HP:0001943	Hypoglycemia	8567	MADD	OMIM:619004
HP:0001943	Hypoglycemia	7403	KDM6A	OMIM:300867
HP:0001943	Hypoglycemia	1352	COX10	OMIM:619046
HP:0001943	Hypoglycemia	10682	EBP	ORPHA:35173
HP:0001943	Hypoglycemia	23152	CIC	OMIM:617600
HP:0001943	Hypoglycemia	27429	HTRA2	OMIM:617248
HP:0001943	Hypoglycemia	3284	HSD3B2	ORPHA:90791
HP:0001943	Hypoglycemia	3767	KCNJ11	ORPHA:276580
HP:0001943	Hypoglycemia	2645	GCK	OMIM:602485
HP:0001943	Hypoglycemia	56246	MRAP	ORPHA:361
HP:0001943	Hypoglycemia	6770	STAR	ORPHA:361
HP:0001943	Hypoglycemia	4158	MC2R	ORPHA:361
HP:0001943	Hypoglycemia	23530	NNT	ORPHA:361
HP:0001943	Hypoglycemia	10587	TXNRD2	ORPHA:361
HP:0001943	Hypoglycemia	3643	INSR	OMIM:609968
HP:0001943	Hypoglycemia	9095	TBX19	ORPHA:199296
HP:0001943	Hypoglycemia	5443	POMC	OMIM:609734
HP:0001943	Hypoglycemia	5443	POMC	ORPHA:71526
HP:0001943	Hypoglycemia	5626	PROP1	OMIM:262600
HP:0001943	Hypoglycemia	23126	POGZ	OMIM:616364
HP:0001943	Hypoglycemia	3033	HADH	OMIM:231530
HP:0001943	Hypoglycemia	3033	HADH	ORPHA:71212
HP:0001943	Hypoglycemia	3033	HADH	OMIM:609975
HP:0001943	Hypoglycemia	6566	SLC16A1	OMIM:610021
HP:0001943	Hypoglycemia	6833	ABCC8	OMIM:256450
HP:0001943	Hypoglycemia	6833	ABCC8	ORPHA:276575
HP:0001943	Hypoglycemia	55186	SLC25A36	OMIM:620211
HP:0001943	Hypoglycemia	128989	TANGO2	ORPHA:480864
HP:0001943	Hypoglycemia	2542	SLC37A4	ORPHA:79259
HP:0001943	Hypoglycemia	6505	SLC1A1	OMIM:222730
HP:0001943	Hypoglycemia	2887	GRB10	ORPHA:96182
HP:0001943	Hypoglycemia	6514	SLC2A2	OMIM:227810
HP:0001943	Hypoglycemia	6514	SLC2A2	ORPHA:2088
HP:0001943	Hypoglycemia	79048	SECISBP2	ORPHA:171706
HP:0001943	Hypoglycemia	2746	GLUD1	ORPHA:35878
HP:0001943	Hypoglycemia	7351	UCP2	ORPHA:276556
HP:0001943	Hypoglycemia	5122	PCSK1	OMIM:600955
HP:0001943	Hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0001943	Hypoglycemia	4221	MEN1	ORPHA:97279
HP:0001943	Hypoglycemia	7528	YY1	ORPHA:97279
HP:0001943	Hypoglycemia	229	ALDOB	ORPHA:469
HP:0001943	Hypoglycemia	2998	GYS2	ORPHA:2089
HP:0001943	Hypoglycemia	27034	ACAD8	ORPHA:79159
HP:0001943	Hypoglycemia	35	ACADS	ORPHA:26792
HP:0003357	Thymic hormone decreased	1161	ERCC8	OMIM:216400
HP:0003358	Elevated intracellular cystine	1497	CTNS	ORPHA:411641
HP:0003358	Elevated intracellular cystine	1497	CTNS	ORPHA:411634
HP:0003358	Elevated intracellular cystine	1497	CTNS	OMIM:219750
HP:0003359	Decreased urinary sulfate	4337	MOCS1	OMIM:252150
HP:0003359	Decreased urinary sulfate	6821	SUOX	OMIM:272300
HP:0003447	Axonal loss	54936	ADPRS	OMIM:618170
HP:0003447	Axonal loss	10397	NDRG1	OMIM:601455
HP:0003447	Axonal loss	5376	PMP22	OMIM:118300
HP:0003447	Axonal loss	7305	TYROBP	OMIM:221770
HP:0003447	Axonal loss	6834	SURF1	OMIM:616684
HP:0003447	Axonal loss	29978	UBQLN2	OMIM:300857
HP:0003447	Axonal loss	7343	UBTF	OMIM:617672
HP:0003447	Axonal loss	64423	INF2	OMIM:614455
HP:0003447	Axonal loss	4337	MOCS1	OMIM:252150
HP:0003447	Axonal loss	5981	RFC1	OMIM:614575
HP:0003447	Axonal loss	4338	MOCS2	OMIM:252160
HP:0003447	Axonal loss	51008	ASCC1	OMIM:616867
HP:0003447	Axonal loss	2705	GJB1	ORPHA:1175
HP:0003447	Axonal loss	9325	TRIP4	OMIM:616866
HP:0003447	Axonal loss	9896	FIG4	OMIM:611228
HP:0003447	Axonal loss	9531	BAG3	OMIM:612954
HP:0003447	Axonal loss	4000	LMNA	ORPHA:98856
HP:0003447	Axonal loss	55768	NGLY1	ORPHA:404454
HP:0003447	Axonal loss	54332	GDAP1	ORPHA:101097
HP:0003447	Axonal loss	9990	SLC12A6	OMIM:620068
HP:0003361	Tryptophanuria	6999	TDO2	OMIM:600627
HP:0003362	Increased VLDL cholesterol concentration	116519	APOA5	OMIM:145750
HP:0003362	Increased VLDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0003362	Increased VLDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0003362	Increased VLDL cholesterol concentration	197131	UBR1	OMIM:243800
HP:0003362	Increased VLDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0003363	Abdominal situs inversus	7547	ZIC3	OMIM:306955
HP:0003363	Abdominal situs inversus	10815	CPLX1	ORPHA:280
HP:0003363	Abdominal situs inversus	54872	PIGG	ORPHA:280
HP:0003363	Abdominal situs inversus	7469	NELFA	ORPHA:280
HP:0003363	Abdominal situs inversus	1487	CTBP1	ORPHA:280
HP:0003363	Abdominal situs inversus	3954	LETM1	ORPHA:280
HP:0003363	Abdominal situs inversus	7468	NSD2	ORPHA:280
HP:0003363	Abdominal situs inversus	90416	CCDC32	OMIM:619123
HP:0003363	Abdominal situs inversus	168507	PKD1L1	OMIM:617205
HP:0003363	Abdominal situs inversus	146845	CFAP52	OMIM:619607
HP:0003363	Abdominal situs inversus	72	ACTG2	ORPHA:2604
HP:0003363	Abdominal situs inversus	2302	FOXJ1	OMIM:618699
HP:0003363	Abdominal situs inversus	220136	CFAP53	OMIM:614779
HP:0003363	Abdominal situs inversus	55997	CFC1	OMIM:605376
HP:0003363	Abdominal situs inversus	4838	NODAL	OMIM:270100
HP:0003270	Abdominal distention	2261	FGFR3	OMIM:187600
HP:0003270	Abdominal distention	9851	KIAA0753	OMIM:619479
HP:0003270	Abdominal distention	1594	CYP27B1	ORPHA:289157
HP:0003270	Abdominal distention	1594	CYP27B1	OMIM:264700
HP:0003270	Abdominal distention	120227	CYP2R1	ORPHA:289157
HP:0003270	Abdominal distention	579	NKX3-2	OMIM:613330
HP:0003270	Abdominal distention	2542	SLC37A4	OMIM:232220
HP:0003270	Abdominal distention	2542	SLC37A4	ORPHA:79259
HP:0003270	Abdominal distention	6609	SMPD1	OMIM:257200
HP:0003270	Abdominal distention	23405	DICER1	OMIM:618272
HP:0003270	Abdominal distention	2200	FBN1	OMIM:608328
HP:0003270	Abdominal distention	3636	INPPL1	OMIM:258480
HP:0003270	Abdominal distention	51098	IFT52	OMIM:617102
HP:0003270	Abdominal distention	23169	SLC35D1	OMIM:269250
HP:0003270	Abdominal distention	388015	RTL1	ORPHA:96334
HP:0003270	Abdominal distention	8788	DLK1	ORPHA:96334
HP:0003270	Abdominal distention	55384	MEG3	ORPHA:96334
HP:0003270	Abdominal distention	79158	GNPTAB	OMIM:252500
HP:0003270	Abdominal distention	79158	GNPTAB	ORPHA:576
HP:0003270	Abdominal distention	3930	LBR	OMIM:215140
HP:0003270	Abdominal distention	3930	LBR	OMIM:618019
HP:0003270	Abdominal distention	10020	GNE	OMIM:269921
HP:0003270	Abdominal distention	2538	G6PC1	OMIM:232200
HP:0003270	Abdominal distention	7994	KAT6A	OMIM:616268
HP:0003270	Abdominal distention	1302	COL11A2	OMIM:614524
HP:0003270	Abdominal distention	55764	IFT122	OMIM:218330
HP:0003270	Abdominal distention	2317	FLNB	OMIM:108720
HP:0003270	Abdominal distention	2629	GBA1	OMIM:230900
HP:0003270	Abdominal distention	5745	PTH1R	ORPHA:50945
HP:0003270	Abdominal distention	1301	COL11A1	OMIM:228520
HP:0003270	Abdominal distention	7421	VDR	OMIM:277440
HP:0003270	Abdominal distention	2475	MTOR	ORPHA:457485
HP:0003270	Abdominal distention	29968	PSAT1	OMIM:616038
HP:0003270	Abdominal distention	3425	IDUA	OMIM:607014
HP:0003270	Abdominal distention	5696	PSMB8	OMIM:256040
HP:0003270	Abdominal distention	54808	DYM	ORPHA:239
HP:0003270	Abdominal distention	168667	BMPER	OMIM:608022
HP:0003270	Abdominal distention	65992	DDRGK1	OMIM:602557
HP:0003270	Abdominal distention	65992	DDRGK1	ORPHA:93352
HP:0003270	Abdominal distention	6809	STX3	ORPHA:2290
HP:0003270	Abdominal distention	6809	STX3	OMIM:619445
HP:0003270	Abdominal distention	4645	MYO5B	ORPHA:2290
HP:0003270	Abdominal distention	5339	PLEC	ORPHA:158684
HP:0003270	Abdominal distention	3691	ITGB4	ORPHA:158684
HP:0003270	Abdominal distention	3691	ITGB4	ORPHA:79403
HP:0003270	Abdominal distention	79827	CLMP	OMIM:615237
HP:0003270	Abdominal distention	3875	KRT18	OMIM:215600
HP:0003270	Abdominal distention	6775	STAT4	ORPHA:93552
HP:0003270	Abdominal distention	6696	SPP1	ORPHA:93552
HP:0003270	Abdominal distention	3654	IRAK1	ORPHA:93552
HP:0003270	Abdominal distention	9839	ZEB2	OMIM:235730
HP:0003270	Abdominal distention	2038	EPB42	ORPHA:822
HP:0003270	Abdominal distention	6521	SLC4A1	ORPHA:822
HP:0003270	Abdominal distention	6710	SPTB	ORPHA:822
HP:0003270	Abdominal distention	6708	SPTA1	ORPHA:822
HP:0003270	Abdominal distention	286	ANK1	ORPHA:822
HP:0003270	Abdominal distention	3655	ITGA6	ORPHA:79403
HP:0003270	Abdominal distention	7849	PAX8	OMIM:218700
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95720
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95713
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95712
HP:0003270	Abdominal distention	55112	DYNC2I1	ORPHA:93271
HP:0003270	Abdominal distention	57560	IFT80	ORPHA:93271
HP:0003270	Abdominal distention	57539	WDR35	ORPHA:93271
HP:0003270	Abdominal distention	79659	DYNC2H1	ORPHA:93271
HP:0003270	Abdominal distention	89891	DYNC2I2	ORPHA:93271
HP:0003270	Abdominal distention	6514	SLC2A2	OMIM:227810
HP:0003270	Abdominal distention	6514	SLC2A2	ORPHA:2088
HP:0003270	Abdominal distention	2130	EWSR1	ORPHA:83469
HP:0003270	Abdominal distention	7490	WT1	ORPHA:83469
HP:0003270	Abdominal distention	2050	EPHB4	OMIM:617300
HP:0003270	Abdominal distention	341640	FREM2	OMIM:617666
HP:0003270	Abdominal distention	672	BRCA1	ORPHA:168829
HP:0003270	Abdominal distention	72	ACTG2	ORPHA:2604
HP:0003270	Abdominal distention	72	ACTG2	ORPHA:2241
HP:0003270	Abdominal distention	72	ACTG2	OMIM:155310
HP:0003270	Abdominal distention	6523	SLC5A1	ORPHA:35710
HP:0003270	Abdominal distention	6523	SLC5A1	OMIM:606824
HP:0003270	Abdominal distention	10683	DLL3	OMIM:277300
HP:0003270	Abdominal distention	145873	MESP2	OMIM:277300
HP:0003270	Abdominal distention	7253	TSHR	ORPHA:95720
HP:0003270	Abdominal distention	7253	TSHR	ORPHA:95713
HP:0003270	Abdominal distention	5172	SLC26A4	ORPHA:95720
HP:0003270	Abdominal distention	5172	SLC26A4	ORPHA:95713
HP:0003270	Abdominal distention	4868	NPHS1	OMIM:256300
HP:0003270	Abdominal distention	5428	POLG	ORPHA:298
HP:0003270	Abdominal distention	5428	POLG	OMIM:613662
HP:0003270	Abdominal distention	1890	TYMP	ORPHA:298
HP:0003270	Abdominal distention	3980	LIG3	ORPHA:298
HP:0003270	Abdominal distention	50484	RRM2B	ORPHA:298
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309271
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309263
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309256
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309271
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309263
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309256
HP:0003270	Abdominal distention	4072	EPCAM	ORPHA:92050
HP:0003270	Abdominal distention	105371045	PERCC1	ORPHA:92050
HP:0003270	Abdominal distention	55687	TRMU	OMIM:613070
HP:0003270	Abdominal distention	7019	TFAM	OMIM:617156
HP:0003270	Abdominal distention	3643	INSR	OMIM:246200
HP:0003270	Abdominal distention	3643	INSR	ORPHA:508
HP:0003270	Abdominal distention	11232	POLG2	OMIM:618528
HP:0003270	Abdominal distention	7080	NKX2-1	ORPHA:95713
HP:0003270	Abdominal distention	1482	NKX2-5	ORPHA:95713
HP:0003270	Abdominal distention	1482	NKX2-5	ORPHA:95712
HP:0003270	Abdominal distention	2304	FOXE1	ORPHA:95713
HP:0003270	Abdominal distention	4358	MPV17	OMIM:256810
HP:0003270	Abdominal distention	6550	SLC9A3	OMIM:616868
HP:0003270	Abdominal distention	3117	HLA-DQA1	OMIM:212750
HP:0003270	Abdominal distention	3119	HLA-DQB1	OMIM:212750
HP:0003270	Abdominal distention	55107	ANO1	OMIM:620045
HP:0003270	Abdominal distention	1717	DHCR7	OMIM:270400
HP:0003270	Abdominal distention	26175	LYSET	OMIM:619345
HP:0003270	Abdominal distention	79867	TCTN2	OMIM:613885
HP:0003270	Abdominal distention	79053	ALG8	OMIM:608104
HP:0003270	Abdominal distention	2313	FLI1	ORPHA:370348
HP:0003270	Abdominal distention	1836	SLC26A2	OMIM:600972
HP:0003270	Abdominal distention	10526	IPO8	OMIM:619472
HP:0003270	Abdominal distention	4629	MYH11	OMIM:619351
HP:0003270	Abdominal distention	4629	MYH11	ORPHA:2241
HP:0003270	Abdominal distention	54914	FOCAD	OMIM:619991
HP:0003270	Abdominal distention	773	CACNA1A	ORPHA:2131
HP:0003270	Abdominal distention	6507	SLC1A3	ORPHA:2131
HP:0003270	Abdominal distention	477	ATP1A2	ORPHA:2131
HP:0003270	Abdominal distention	478	ATP1A3	ORPHA:2131
HP:0003270	Abdominal distention	79770	TXNDC15	OMIM:619879
HP:0003270	Abdominal distention	5589	PRKCSH	OMIM:174050
HP:0003270	Abdominal distention	5589	PRKCSH	ORPHA:2924
HP:0003270	Abdominal distention	6476	SI	ORPHA:35122
HP:0003270	Abdominal distention	5979	RET	OMIM:142623
HP:0003270	Abdominal distention	229	ALDOB	ORPHA:469
HP:0003270	Abdominal distention	10653	SPINT2	OMIM:270420
HP:0003270	Abdominal distention	3594	IL12RB1	ORPHA:186
HP:0003270	Abdominal distention	23534	TNPO3	ORPHA:186
HP:0003270	Abdominal distention	3592	IL12A	ORPHA:186
HP:0003270	Abdominal distention	6689	SPIB	ORPHA:186
HP:0003270	Abdominal distention	5450	POU2AF1	ORPHA:186
HP:0003270	Abdominal distention	9966	TNFSF15	ORPHA:186
HP:0003270	Abdominal distention	79258	MMEL1	ORPHA:186
HP:0003270	Abdominal distention	3663	IRF5	ORPHA:186
HP:0003270	Abdominal distention	2316	FLNA	OMIM:300048
HP:0003270	Abdominal distention	25802	LMOD1	OMIM:619362
HP:0003270	Abdominal distention	25802	LMOD1	ORPHA:2241
HP:0003270	Abdominal distention	10398	MYL9	OMIM:619365
HP:0003270	Abdominal distention	50485	SMARCAL1	ORPHA:1830
HP:0003270	Abdominal distention	11231	SEC63	ORPHA:2924
HP:0003270	Abdominal distention	4041	LRP5	ORPHA:2924
HP:0003270	Abdominal distention	1811	SLC26A3	OMIM:214700
HP:0003270	Abdominal distention	4638	MYLK	ORPHA:2241
HP:0003270	Abdominal distention	51128	SAR1B	ORPHA:71
HP:0003270	Abdominal distention	540	ATP7B	OMIM:277900
HP:0003270	Abdominal distention	10551	AGR2	OMIM:620233
HP:0003270	Abdominal distention	3988	LIPA	ORPHA:75233
HP:0003270	Abdominal distention	210	ALAD	ORPHA:100924
HP:0003270	Abdominal distention	79989	IFT56	OMIM:619534
HP:0003270	Abdominal distention	1280	COL2A1	ORPHA:85166
HP:0003270	Abdominal distention	11181	TREH	ORPHA:103909
HP:0003270	Abdominal distention	5297	PI4KA	ORPHA:436252
HP:0003270	Abdominal distention	57217	TTC7A	ORPHA:436252
HP:0003270	Abdominal distention	9321	TRIP11	ORPHA:93299
HP:0003270	Abdominal distention	3110	MNX1	OMIM:176450
HP:0003270	Abdominal distention	2492	FSHR	ORPHA:64739
HP:0003270	Abdominal distention	5836	PYGL	ORPHA:369
HP:0003270	Abdominal distention	205327	C2orf69	OMIM:619423
HP:0003270	Abdominal distention	3145	HMBS	ORPHA:79276
HP:0003365	Arthralgia of the hip	6399	TRAPPC2	ORPHA:93284
HP:0003365	Arthralgia of the hip	1836	SLC26A2	ORPHA:93307
HP:0003365	Arthralgia of the hip	1297	COL9A1	OMIM:614135
HP:0003365	Arthralgia of the hip	1297	COL9A1	ORPHA:166002
HP:0003365	Arthralgia of the hip	1311	COMP	ORPHA:93308
HP:0003365	Arthralgia of the hip	1280	COL2A1	ORPHA:166011
HP:0003365	Arthralgia of the hip	1280	COL2A1	ORPHA:1856
HP:0003365	Arthralgia of the hip	567	B2M	ORPHA:314652
HP:0003365	Arthralgia of the hip	4148	MATN3	ORPHA:93311
HP:0003365	Arthralgia of the hip	4148	MATN3	OMIM:607078
HP:0003365	Arthralgia of the hip	1298	COL9A2	ORPHA:166002
HP:0003365	Arthralgia of the hip	1299	COL9A3	ORPHA:166002
HP:0003366	Abnormal femoral neck/head morphology	7355	SLC35A2	ORPHA:356961
HP:0003366	Abnormal femoral neck/head morphology	4897	NRCAM	OMIM:619833
HP:0003366	Abnormal femoral neck/head morphology	347734	SLC35B2	OMIM:620269
HP:0003366	Abnormal femoral neck/head morphology	546	ATRX	OMIM:301040
HP:0003366	Abnormal femoral neck/head morphology	55593	OTUD5	OMIM:301056
HP:0003366	Abnormal femoral neck/head morphology	613	BCR	ORPHA:261330
HP:0003366	Abnormal femoral neck/head morphology	1399	CRKL	ORPHA:261330
HP:0003366	Abnormal femoral neck/head morphology	5594	MAPK1	ORPHA:261330
HP:0003366	Abnormal femoral neck/head morphology	4000	LMNA	OMIM:248370
HP:0003366	Abnormal femoral neck/head morphology	4000	LMNA	ORPHA:740
HP:0003366	Abnormal femoral neck/head morphology	3764	KCNJ8	ORPHA:1517
HP:0003366	Abnormal femoral neck/head morphology	10060	ABCC9	ORPHA:1517
HP:0003366	Abnormal femoral neck/head morphology	10060	ABCC9	OMIM:239850
HP:0003366	Abnormal femoral neck/head morphology	55768	NGLY1	ORPHA:404454
HP:0003366	Abnormal femoral neck/head morphology	79158	GNPTAB	OMIM:252500
HP:0003366	Abnormal femoral neck/head morphology	6197	RPS6KA3	OMIM:303600
HP:0003366	Abnormal femoral neck/head morphology	64135	IFIH1	OMIM:182250
HP:0003366	Abnormal femoral neck/head morphology	1301	COL11A1	OMIM:154780
HP:0003366	Abnormal femoral neck/head morphology	2316	FLNA	OMIM:305620
HP:0003366	Abnormal femoral neck/head morphology	2316	FLNA	ORPHA:2484
HP:0003366	Abnormal femoral neck/head morphology	2316	FLNA	OMIM:309350
HP:0003366	Abnormal femoral neck/head morphology	2316	FLNA	OMIM:311300
HP:0003366	Abnormal femoral neck/head morphology	3190	HNRNPK	OMIM:616580
HP:0003366	Abnormal femoral neck/head morphology	57492	ARID1B	OMIM:135900
HP:0003366	Abnormal femoral neck/head morphology	4998	ORC1	OMIM:224690
HP:0003366	Abnormal femoral neck/head morphology	3899	AFF3	OMIM:619297
HP:0003366	Abnormal femoral neck/head morphology	8726	EED	OMIM:617561
HP:0003366	Abnormal femoral neck/head morphology	633	BGN	OMIM:300106
HP:0003366	Abnormal femoral neck/head morphology	9451	EIF2AK3	OMIM:226980
HP:0003366	Abnormal femoral neck/head morphology	3425	IDUA	OMIM:607014
HP:0003366	Abnormal femoral neck/head morphology	4247	MGAT2	OMIM:212066
HP:0003366	Abnormal femoral neck/head morphology	10804	GJB6	ORPHA:477
HP:0003366	Abnormal femoral neck/head morphology	2706	GJB2	ORPHA:477
HP:0003366	Abnormal femoral neck/head morphology	9321	TRIP11	ORPHA:166272
HP:0003366	Abnormal femoral neck/head morphology	11285	B4GALT7	OMIM:130070
HP:0003366	Abnormal femoral neck/head morphology	2517	FUCA1	OMIM:230000
HP:0003366	Abnormal femoral neck/head morphology	2588	GALNS	OMIM:253000
HP:0003366	Abnormal femoral neck/head morphology	7040	TGFB1	ORPHA:1328
HP:0003366	Abnormal femoral neck/head morphology	10236	HNRNPR	OMIM:620073
HP:0003366	Abnormal femoral neck/head morphology	25839	COG4	OMIM:618150
HP:0003366	Abnormal femoral neck/head morphology	10269	ZMPSTE24	ORPHA:740
HP:0003366	Abnormal femoral neck/head morphology	6558	SLC12A2	OMIM:619080
HP:0003366	Abnormal femoral neck/head morphology	51715	RAB23	OMIM:201000
HP:0003366	Abnormal femoral neck/head morphology	3187	HNRNPH1	OMIM:620083
HP:0003366	Abnormal femoral neck/head morphology	2146	EZH2	OMIM:277590
HP:0003366	Abnormal femoral neck/head morphology	2961	GTF2E2	OMIM:616943
HP:0003366	Abnormal femoral neck/head morphology	9939	RBM8A	ORPHA:3320
HP:0003366	Abnormal femoral neck/head morphology	9939	RBM8A	OMIM:274000
HP:0003366	Abnormal femoral neck/head morphology	865	CBFB	OMIM:620099
HP:0003366	Abnormal femoral neck/head morphology	2737	GLI3	ORPHA:93322
HP:0003366	Abnormal femoral neck/head morphology	4322	MMP13	OMIM:602111
HP:0003366	Abnormal femoral neck/head morphology	538	ATP7A	ORPHA:198
HP:0003366	Abnormal femoral neck/head morphology	2131	EXT1	OMIM:133700
HP:0003366	Abnormal femoral neck/head morphology	2132	EXT2	OMIM:133701
HP:0003366	Abnormal femoral neck/head morphology	85301	COL27A1	OMIM:615155
HP:0003366	Abnormal femoral neck/head morphology	579	NKX3-2	OMIM:613330
HP:0003366	Abnormal femoral neck/head morphology	1857	DVL3	ORPHA:3107
HP:0003366	Abnormal femoral neck/head morphology	7474	WNT5A	ORPHA:3107
HP:0003366	Abnormal femoral neck/head morphology	1855	DVL1	ORPHA:3107
HP:0003366	Abnormal femoral neck/head morphology	10312	TCIRG1	OMIM:259700
HP:0003366	Abnormal femoral neck/head morphology	6023	RMRP	OMIM:250250
HP:0003366	Abnormal femoral neck/head morphology	81031	SLC2A10	ORPHA:3342
HP:0003366	Abnormal femoral neck/head morphology	5130	PCYT1A	ORPHA:85167
HP:0003366	Abnormal femoral neck/head morphology	5130	PCYT1A	OMIM:608940
HP:0003366	Abnormal femoral neck/head morphology	5176	SERPINF1	OMIM:613982
HP:0003366	Abnormal femoral neck/head morphology	60681	FKBP10	OMIM:259450
HP:0003366	Abnormal femoral neck/head morphology	60681	FKBP10	OMIM:610968
HP:0003366	Abnormal femoral neck/head morphology	4784	NFIX	OMIM:602535
HP:0003366	Abnormal femoral neck/head morphology	11014	KDELR2	OMIM:619131
HP:0003366	Abnormal femoral neck/head morphology	1758	DMP1	ORPHA:289176
HP:0003366	Abnormal femoral neck/head morphology	5167	ENPP1	ORPHA:289176
HP:0003366	Abnormal femoral neck/head morphology	23545	ATP6V0A2	ORPHA:2834
HP:0003366	Abnormal femoral neck/head morphology	23545	ATP6V0A2	OMIM:278250
HP:0003366	Abnormal femoral neck/head morphology	10491	CRTAP	OMIM:610682
HP:0003366	Abnormal femoral neck/head morphology	5116	PCNT	ORPHA:2637
HP:0003366	Abnormal femoral neck/head morphology	5116	PCNT	OMIM:210720
HP:0003366	Abnormal femoral neck/head morphology	6137	RPL13	OMIM:618728
HP:0003366	Abnormal femoral neck/head morphology	3339	HSPG2	OMIM:255800
HP:0003366	Abnormal femoral neck/head morphology	3339	HSPG2	ORPHA:800
HP:0003366	Abnormal femoral neck/head morphology	2317	FLNB	OMIM:272460
HP:0003366	Abnormal femoral neck/head morphology	9509	ADAMTS2	ORPHA:1901
HP:0003366	Abnormal femoral neck/head morphology	1954	MEGF8	OMIM:614976
HP:0003366	Abnormal femoral neck/head morphology	23594	ORC6	OMIM:613803
HP:0003366	Abnormal femoral neck/head morphology	1278	COL1A2	ORPHA:1899
HP:0003366	Abnormal femoral neck/head morphology	1277	COL1A1	ORPHA:1899
HP:0003366	Abnormal femoral neck/head morphology	9653	HS2ST1	OMIM:619194
HP:0003366	Abnormal femoral neck/head morphology	9742	IFT140	OMIM:266920
HP:0003366	Abnormal femoral neck/head morphology	8985	PLOD3	OMIM:612394
HP:0003366	Abnormal femoral neck/head morphology	2720	GLB1	OMIM:253010
HP:0003366	Abnormal femoral neck/head morphology	9469	CHST3	OMIM:143095
HP:0003366	Abnormal femoral neck/head morphology	2137	EXTL3	OMIM:617425
HP:0003366	Abnormal femoral neck/head morphology	6399	TRAPPC2	OMIM:313400
HP:0003366	Abnormal femoral neck/head morphology	50485	SMARCAL1	OMIM:242900
HP:0003366	Abnormal femoral neck/head morphology	9719	ADAMTSL2	OMIM:231050
HP:0003366	Abnormal femoral neck/head morphology	990	CDC6	OMIM:613805
HP:0003366	Abnormal femoral neck/head morphology	5286	PIK3C2A	ORPHA:557003
HP:0003366	Abnormal femoral neck/head morphology	4041	LRP5	ORPHA:2788
HP:0003366	Abnormal femoral neck/head morphology	3835	KIF22	ORPHA:93360
HP:0003366	Abnormal femoral neck/head morphology	3835	KIF22	OMIM:603546
HP:0003366	Abnormal femoral neck/head morphology	84572	GNPTG	OMIM:252605
HP:0003366	Abnormal femoral neck/head morphology	176	ACAN	OMIM:608361
HP:0003366	Abnormal femoral neck/head morphology	7227	TRPS1	OMIM:190350
HP:0003366	Abnormal femoral neck/head morphology	9496	TBX4	OMIM:147891
HP:0003366	Abnormal femoral neck/head morphology	4796	TONSL	ORPHA:93357
HP:0003366	Abnormal femoral neck/head morphology	4796	TONSL	OMIM:271510
HP:0003366	Abnormal femoral neck/head morphology	59341	TRPV4	OMIM:113500
HP:0003366	Abnormal femoral neck/head morphology	79848	CSPP1	ORPHA:397715
HP:0003366	Abnormal femoral neck/head morphology	9786	KIAA0586	ORPHA:397715
HP:0003366	Abnormal femoral neck/head morphology	1300	COL10A1	ORPHA:174
HP:0003366	Abnormal femoral neck/head morphology	755	CFAP410	OMIM:602271
HP:0003366	Abnormal femoral neck/head morphology	51119	SBDS	OMIM:260400
HP:0003366	Abnormal femoral neck/head morphology	134218	DNAJC21	OMIM:260400
HP:0003366	Abnormal femoral neck/head morphology	6729	SRP54	OMIM:260400
HP:0003366	Abnormal femoral neck/head morphology	1302	COL11A2	OMIM:215150
HP:0003366	Abnormal femoral neck/head morphology	55898	UNC45A	OMIM:619377
HP:0003366	Abnormal femoral neck/head morphology	26277	TINF2	OMIM:613990
HP:0003366	Abnormal femoral neck/head morphology	91754	NEK9	OMIM:614262
HP:0003366	Abnormal femoral neck/head morphology	9652	SKIC3	OMIM:222470
HP:0003366	Abnormal femoral neck/head morphology	1387	CREBBP	ORPHA:353277
HP:0003366	Abnormal femoral neck/head morphology	1387	CREBBP	ORPHA:353281
HP:0003366	Abnormal femoral neck/head morphology	11277	TREX1	ORPHA:247691
HP:0003366	Abnormal femoral neck/head morphology	2033	EP300	ORPHA:353284
HP:0003366	Abnormal femoral neck/head morphology	10847	SRCAP	ORPHA:2044
HP:0003366	Abnormal femoral neck/head morphology	64374	SIL1	ORPHA:559
HP:0003366	Abnormal femoral neck/head morphology	51763	INPP5K	ORPHA:559
HP:0003366	Abnormal femoral neck/head morphology	2535	FZD2	OMIM:164745
HP:0003366	Abnormal femoral neck/head morphology	90	ACVR1	OMIM:135100
HP:0003366	Abnormal femoral neck/head morphology	55325	UFSP2	ORPHA:2114
HP:0003366	Abnormal femoral neck/head morphology	55325	UFSP2	OMIM:142669
HP:0003366	Abnormal femoral neck/head morphology	5745	PTH1R	OMIM:600002
HP:0003366	Abnormal femoral neck/head morphology	91252	SLC39A13	ORPHA:157965
HP:0003366	Abnormal femoral neck/head morphology	91252	SLC39A13	OMIM:612350
HP:0003366	Abnormal femoral neck/head morphology	372	ARCN1	OMIM:617164
HP:0003366	Abnormal femoral neck/head morphology	83452	RAB33B	OMIM:615222
HP:0003366	Abnormal femoral neck/head morphology	1311	COMP	OMIM:132400
HP:0003366	Abnormal femoral neck/head morphology	8838	CCN6	ORPHA:1159
HP:0003366	Abnormal femoral neck/head morphology	79639	TMEM53	OMIM:619727
HP:0003366	Abnormal femoral neck/head morphology	25782	RAB3GAP2	OMIM:212720
HP:0003366	Abnormal femoral neck/head morphology	9382	COG1	OMIM:611209
HP:0003366	Abnormal femoral neck/head morphology	124583	CANT1	OMIM:251450
HP:0003366	Abnormal femoral neck/head morphology	54808	DYM	ORPHA:239
HP:0003366	Abnormal femoral neck/head morphology	4148	MATN3	OMIM:607078
HP:0003366	Abnormal femoral neck/head morphology	5979	RET	OMIM:162300
HP:0003366	Abnormal femoral neck/head morphology	2972	BRF1	OMIM:616202
HP:0003366	Abnormal femoral neck/head morphology	79631	EFL1	ORPHA:811
HP:0003366	Abnormal femoral neck/head morphology	3459	IFNGR1	OMIM:209950
HP:0003366	Abnormal femoral neck/head morphology	26146	TRAF3IP1	OMIM:616629
HP:0003366	Abnormal femoral neck/head morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0003366	Abnormal femoral neck/head morphology	55699	IARS2	OMIM:616007
HP:0003366	Abnormal femoral neck/head morphology	1836	SLC26A2	ORPHA:93307
HP:0003366	Abnormal femoral neck/head morphology	6913	TBX15	OMIM:260660
HP:0003366	Abnormal femoral neck/head morphology	9759	HDAC4	OMIM:619797
HP:0003366	Abnormal femoral neck/head morphology	5626	PROP1	ORPHA:226307
HP:0003366	Abnormal femoral neck/head morphology	89884	LHX4	ORPHA:226307
HP:0003366	Abnormal femoral neck/head morphology	8022	LHX3	ORPHA:226307
HP:0003366	Abnormal femoral neck/head morphology	5449	POU1F1	ORPHA:226307
HP:0003366	Abnormal femoral neck/head morphology	8820	HESX1	ORPHA:226307
HP:0003366	Abnormal femoral neck/head morphology	405753	DUOXA2	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	6528	SLC5A5	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	7038	TG	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	7173	TPO	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	389434	IYD	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	50506	DUOX2	ORPHA:95716
HP:0003366	Abnormal femoral neck/head morphology	1280	COL2A1	ORPHA:93296
HP:0003366	Abnormal femoral neck/head morphology	7253	TSHR	ORPHA:90673
HP:0003366	Abnormal femoral neck/head morphology	7252	TSHB	ORPHA:90674
HP:0003366	Abnormal femoral neck/head morphology	126792	B3GALT6	OMIM:271640
HP:0003366	Abnormal femoral neck/head morphology	415	ARSL	ORPHA:79345
HP:0003366	Abnormal femoral neck/head morphology	60561	RINT1	OMIM:618641
HP:0003366	Abnormal femoral neck/head morphology	3313	HSPA9	OMIM:616854
HP:0003366	Abnormal femoral neck/head morphology	5144	PDE4D	ORPHA:439822
HP:0003366	Abnormal femoral neck/head morphology	4010	LMX1B	ORPHA:495818
HP:0003366	Abnormal femoral neck/head morphology	6812	STXBP1	ORPHA:495818
HP:0003366	Abnormal femoral neck/head morphology	4125	MAN2B1	ORPHA:309282
HP:0003366	Abnormal femoral neck/head morphology	2074	ERCC6	OMIM:278800
HP:0003366	Abnormal femoral neck/head morphology	57003	CCDC47	OMIM:618268
HP:0003366	Abnormal femoral neck/head morphology	84342	COG8	OMIM:611182
HP:0003366	Abnormal femoral neck/head morphology	51506	UFC1	OMIM:618076
HP:0003366	Abnormal femoral neck/head morphology	7043	TGFB3	OMIM:615582
HP:0003366	Abnormal femoral neck/head morphology	1297	COL9A1	ORPHA:166002
HP:0003366	Abnormal femoral neck/head morphology	1298	COL9A2	ORPHA:166002
HP:0003366	Abnormal femoral neck/head morphology	1299	COL9A3	ORPHA:166002
HP:0003366	Abnormal femoral neck/head morphology	64131	XYLT1	OMIM:615777
HP:0003366	Abnormal femoral neck/head morphology	55790	CSGALNACT1	OMIM:618870
HP:0003366	Abnormal femoral neck/head morphology	26175	LYSET	OMIM:619345
HP:0003366	Abnormal femoral neck/head morphology	2335	FN1	OMIM:184255
HP:0003366	Abnormal femoral neck/head morphology	65992	DDRGK1	OMIM:602557
HP:0003366	Abnormal femoral neck/head morphology	9131	AIFM1	OMIM:300232
HP:0003366	Abnormal femoral neck/head morphology	5885	RAD21	OMIM:614701
HP:0003366	Abnormal femoral neck/head morphology	89970	RSPRY1	OMIM:616723
HP:0003366	Abnormal femoral neck/head morphology	89970	RSPRY1	ORPHA:457395
HP:0003366	Abnormal femoral neck/head morphology	91147	TMEM67	OMIM:602152
HP:0003366	Abnormal femoral neck/head morphology	8720	MBTPS1	OMIM:618392
HP:0003366	Abnormal femoral neck/head morphology	10651	MTX2	OMIM:619127
HP:0003366	Abnormal femoral neck/head morphology	6473	SHOX	OMIM:249700
HP:0003366	Abnormal femoral neck/head morphology	6473	SHOX	ORPHA:2632
HP:0003366	Abnormal femoral neck/head morphology	23233	EXOC6B	OMIM:618395
HP:0003366	Abnormal femoral neck/head morphology	10216	PRG4	ORPHA:2848
HP:0003366	Abnormal femoral neck/head morphology	388015	RTL1	ORPHA:96334
HP:0003366	Abnormal femoral neck/head morphology	8788	DLK1	ORPHA:96334
HP:0003366	Abnormal femoral neck/head morphology	55384	MEG3	ORPHA:96334
HP:0003366	Abnormal femoral neck/head morphology	10940	POP1	OMIM:617396
HP:0003366	Abnormal femoral neck/head morphology	4318	MMP9	OMIM:613073
HP:0003366	Abnormal femoral neck/head morphology	84068	SLC10A7	OMIM:618363
HP:0003366	Abnormal femoral neck/head morphology	2261	FGFR3	OMIM:146000
HP:0003366	Abnormal femoral neck/head morphology	2261	FGFR3	OMIM:100800
HP:0003366	Abnormal femoral neck/head morphology	1108	CHD4	OMIM:617159
HP:0003366	Abnormal femoral neck/head morphology	54187	NANS	OMIM:610442
HP:0003366	Abnormal femoral neck/head morphology	658	BMPR1B	OMIM:609441
HP:0003366	Abnormal femoral neck/head morphology	3549	IHH	OMIM:607778
HP:0003366	Abnormal femoral neck/head morphology	860	RUNX2	OMIM:119600
HP:0003366	Abnormal femoral neck/head morphology	80169	CTC1	OMIM:612199
HP:0003366	Abnormal femoral neck/head morphology	3930	LBR	OMIM:618019
HP:0003366	Abnormal femoral neck/head morphology	25886	POC1A	OMIM:614813
HP:0003366	Abnormal femoral neck/head morphology	5830	PEX5	OMIM:616716
HP:0003367	Abnormal femoral neck morphology	64374	SIL1	OMIM:248800
HP:0003367	Abnormal femoral neck morphology	64374	SIL1	ORPHA:559
HP:0003367	Abnormal femoral neck morphology	7355	SLC35A2	ORPHA:356961
HP:0003367	Abnormal femoral neck morphology	4897	NRCAM	OMIM:619833
HP:0003367	Abnormal femoral neck morphology	347734	SLC35B2	OMIM:620269
HP:0003367	Abnormal femoral neck morphology	2720	GLB1	OMIM:230600
HP:0003367	Abnormal femoral neck morphology	2720	GLB1	OMIM:253010
HP:0003367	Abnormal femoral neck morphology	538	ATP7A	OMIM:304150
HP:0003367	Abnormal femoral neck morphology	538	ATP7A	ORPHA:198
HP:0003367	Abnormal femoral neck morphology	546	ATRX	OMIM:301040
HP:0003367	Abnormal femoral neck morphology	55593	OTUD5	OMIM:301056
HP:0003367	Abnormal femoral neck morphology	613	BCR	ORPHA:261330
HP:0003367	Abnormal femoral neck morphology	1399	CRKL	ORPHA:261330
HP:0003367	Abnormal femoral neck morphology	5594	MAPK1	ORPHA:261330
HP:0003367	Abnormal femoral neck morphology	2137	EXTL3	OMIM:617425
HP:0003367	Abnormal femoral neck morphology	4000	LMNA	OMIM:248370
HP:0003367	Abnormal femoral neck morphology	4000	LMNA	ORPHA:740
HP:0003367	Abnormal femoral neck morphology	3764	KCNJ8	ORPHA:1517
HP:0003367	Abnormal femoral neck morphology	10060	ABCC9	ORPHA:1517
HP:0003367	Abnormal femoral neck morphology	10060	ABCC9	OMIM:239850
HP:0003367	Abnormal femoral neck morphology	55768	NGLY1	ORPHA:404454
HP:0003367	Abnormal femoral neck morphology	79158	GNPTAB	OMIM:252500
HP:0003367	Abnormal femoral neck morphology	6197	RPS6KA3	OMIM:303600
HP:0003367	Abnormal femoral neck morphology	64135	IFIH1	OMIM:182250
HP:0003367	Abnormal femoral neck morphology	1301	COL11A1	OMIM:154780
HP:0003367	Abnormal femoral neck morphology	2316	FLNA	OMIM:305620
HP:0003367	Abnormal femoral neck morphology	2316	FLNA	ORPHA:2484
HP:0003367	Abnormal femoral neck morphology	2316	FLNA	OMIM:309350
HP:0003367	Abnormal femoral neck morphology	2316	FLNA	OMIM:311300
HP:0003367	Abnormal femoral neck morphology	3190	HNRNPK	OMIM:616580
HP:0003367	Abnormal femoral neck morphology	57492	ARID1B	OMIM:135900
HP:0003367	Abnormal femoral neck morphology	4998	ORC1	OMIM:224690
HP:0003367	Abnormal femoral neck morphology	3899	AFF3	OMIM:619297
HP:0003367	Abnormal femoral neck morphology	9719	ADAMTSL2	ORPHA:1901
HP:0003367	Abnormal femoral neck morphology	9719	ADAMTSL2	OMIM:231050
HP:0003367	Abnormal femoral neck morphology	9509	ADAMTS2	ORPHA:1901
HP:0003367	Abnormal femoral neck morphology	2131	EXT1	ORPHA:321
HP:0003367	Abnormal femoral neck morphology	2132	EXT2	ORPHA:321
HP:0003367	Abnormal femoral neck morphology	8726	EED	OMIM:617561
HP:0003367	Abnormal femoral neck morphology	633	BGN	OMIM:300106
HP:0003367	Abnormal femoral neck morphology	9451	EIF2AK3	OMIM:226980
HP:0003367	Abnormal femoral neck morphology	3425	IDUA	OMIM:607014
HP:0003367	Abnormal femoral neck morphology	51763	INPP5K	ORPHA:559
HP:0003367	Abnormal femoral neck morphology	4247	MGAT2	OMIM:212066
HP:0003367	Abnormal femoral neck morphology	2074	ERCC6	OMIM:214150
HP:0003367	Abnormal femoral neck morphology	10804	GJB6	ORPHA:477
HP:0003367	Abnormal femoral neck morphology	2706	GJB2	ORPHA:477
HP:0003367	Abnormal femoral neck morphology	9321	TRIP11	ORPHA:166272
HP:0003367	Abnormal femoral neck morphology	11285	B4GALT7	OMIM:130070
HP:0003367	Abnormal femoral neck morphology	1857	DVL3	ORPHA:3107
HP:0003367	Abnormal femoral neck morphology	7474	WNT5A	ORPHA:3107
HP:0003367	Abnormal femoral neck morphology	1855	DVL1	ORPHA:3107
HP:0003367	Abnormal femoral neck morphology	2517	FUCA1	OMIM:230000
HP:0003367	Abnormal femoral neck morphology	2588	GALNS	OMIM:253000
HP:0003367	Abnormal femoral neck morphology	81031	SLC2A10	ORPHA:3342
HP:0003367	Abnormal femoral neck morphology	7040	TGFB1	ORPHA:1328
HP:0003367	Abnormal femoral neck morphology	10236	HNRNPR	OMIM:620073
HP:0003367	Abnormal femoral neck morphology	25839	COG4	OMIM:618150
HP:0003367	Abnormal femoral neck morphology	10269	ZMPSTE24	ORPHA:740
HP:0003367	Abnormal femoral neck morphology	6558	SLC12A2	OMIM:619080
HP:0003367	Abnormal femoral neck morphology	51715	RAB23	OMIM:201000
HP:0003367	Abnormal femoral neck morphology	4784	NFIX	OMIM:614753
HP:0003367	Abnormal femoral neck morphology	3187	HNRNPH1	OMIM:620083
HP:0003367	Abnormal femoral neck morphology	11014	KDELR2	OMIM:619131
HP:0003367	Abnormal femoral neck morphology	5167	ENPP1	OMIM:613312
HP:0003367	Abnormal femoral neck morphology	2146	EZH2	OMIM:277590
HP:0003367	Abnormal femoral neck morphology	2961	GTF2E2	OMIM:616943
HP:0003367	Abnormal femoral neck morphology	9939	RBM8A	ORPHA:3320
HP:0003367	Abnormal femoral neck morphology	9939	RBM8A	OMIM:274000
HP:0003367	Abnormal femoral neck morphology	3339	HSPG2	OMIM:255800
HP:0003367	Abnormal femoral neck morphology	3339	HSPG2	ORPHA:800
HP:0003367	Abnormal femoral neck morphology	55790	CSGALNACT1	ORPHA:1425
HP:0003367	Abnormal femoral neck morphology	1278	COL1A2	ORPHA:1899
HP:0003367	Abnormal femoral neck morphology	1277	COL1A1	ORPHA:1899
HP:0003367	Abnormal femoral neck morphology	865	CBFB	OMIM:620099
HP:0003367	Abnormal femoral neck morphology	2737	GLI3	ORPHA:93322
HP:0003367	Abnormal femoral neck morphology	4322	MMP13	OMIM:602111
HP:0003367	Abnormal femoral neck morphology	85301	COL27A1	OMIM:615155
HP:0003367	Abnormal femoral neck morphology	579	NKX3-2	OMIM:613330
HP:0003367	Abnormal femoral neck morphology	10312	TCIRG1	OMIM:259700
HP:0003367	Abnormal femoral neck morphology	6023	RMRP	OMIM:250250
HP:0003367	Abnormal femoral neck morphology	5130	PCYT1A	ORPHA:85167
HP:0003367	Abnormal femoral neck morphology	5130	PCYT1A	OMIM:608940
HP:0003367	Abnormal femoral neck morphology	51119	SBDS	OMIM:260400
HP:0003367	Abnormal femoral neck morphology	134218	DNAJC21	OMIM:260400
HP:0003367	Abnormal femoral neck morphology	6729	SRP54	OMIM:260400
HP:0003367	Abnormal femoral neck morphology	5176	SERPINF1	OMIM:613982
HP:0003367	Abnormal femoral neck morphology	60681	FKBP10	OMIM:259450
HP:0003367	Abnormal femoral neck morphology	60681	FKBP10	OMIM:610968
HP:0003367	Abnormal femoral neck morphology	1758	DMP1	ORPHA:289176
HP:0003367	Abnormal femoral neck morphology	23545	ATP6V0A2	ORPHA:2834
HP:0003367	Abnormal femoral neck morphology	23545	ATP6V0A2	OMIM:278250
HP:0003367	Abnormal femoral neck morphology	10491	CRTAP	OMIM:610682
HP:0003367	Abnormal femoral neck morphology	5116	PCNT	ORPHA:2637
HP:0003367	Abnormal femoral neck morphology	5116	PCNT	OMIM:210720
HP:0003367	Abnormal femoral neck morphology	6137	RPL13	OMIM:618728
HP:0003367	Abnormal femoral neck morphology	9496	TBX4	OMIM:147891
HP:0003367	Abnormal femoral neck morphology	2317	FLNB	OMIM:272460
HP:0003367	Abnormal femoral neck morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0003367	Abnormal femoral neck morphology	1954	MEGF8	OMIM:614976
HP:0003367	Abnormal femoral neck morphology	23594	ORC6	OMIM:613803
HP:0003367	Abnormal femoral neck morphology	3549	IHH	ORPHA:63446
HP:0003367	Abnormal femoral neck morphology	6473	SHOX	OMIM:127300
HP:0003367	Abnormal femoral neck morphology	2535	FZD2	OMIM:164745
HP:0003367	Abnormal femoral neck morphology	90	ACVR1	OMIM:135100
HP:0003367	Abnormal femoral neck morphology	1300	COL10A1	OMIM:156500
HP:0003367	Abnormal femoral neck morphology	55325	UFSP2	ORPHA:2114
HP:0003367	Abnormal femoral neck morphology	55325	UFSP2	OMIM:142669
HP:0003367	Abnormal femoral neck morphology	5745	PTH1R	OMIM:600002
HP:0003367	Abnormal femoral neck morphology	372	ARCN1	OMIM:617164
HP:0003367	Abnormal femoral neck morphology	83452	RAB33B	OMIM:615222
HP:0003367	Abnormal femoral neck morphology	79639	TMEM53	OMIM:619727
HP:0003367	Abnormal femoral neck morphology	25782	RAB3GAP2	OMIM:212720
HP:0003367	Abnormal femoral neck morphology	9382	COG1	OMIM:611209
HP:0003367	Abnormal femoral neck morphology	54808	DYM	ORPHA:239
HP:0003367	Abnormal femoral neck morphology	3835	KIF22	OMIM:603546
HP:0003367	Abnormal femoral neck morphology	5144	PDE4D	ORPHA:439822
HP:0003367	Abnormal femoral neck morphology	4010	LMX1B	ORPHA:495818
HP:0003367	Abnormal femoral neck morphology	6812	STXBP1	ORPHA:495818
HP:0003367	Abnormal femoral neck morphology	4125	MAN2B1	ORPHA:309282
HP:0003367	Abnormal femoral neck morphology	57003	CCDC47	OMIM:618268
HP:0003367	Abnormal femoral neck morphology	84342	COG8	OMIM:611182
HP:0003367	Abnormal femoral neck morphology	51506	UFC1	OMIM:618076
HP:0003367	Abnormal femoral neck morphology	7043	TGFB3	OMIM:615582
HP:0003367	Abnormal femoral neck morphology	1297	COL9A1	ORPHA:166002
HP:0003367	Abnormal femoral neck morphology	1298	COL9A2	ORPHA:166002
HP:0003367	Abnormal femoral neck morphology	1299	COL9A3	ORPHA:166002
HP:0003367	Abnormal femoral neck morphology	26175	LYSET	OMIM:619345
HP:0003367	Abnormal femoral neck morphology	1280	COL2A1	OMIM:184255
HP:0003367	Abnormal femoral neck morphology	1280	COL2A1	ORPHA:93316
HP:0003367	Abnormal femoral neck morphology	1280	COL2A1	OMIM:609162
HP:0003367	Abnormal femoral neck morphology	1280	COL2A1	ORPHA:94068
HP:0003367	Abnormal femoral neck morphology	1280	COL2A1	ORPHA:166011
HP:0003367	Abnormal femoral neck morphology	2335	FN1	OMIM:184255
HP:0003367	Abnormal femoral neck morphology	1311	COMP	ORPHA:750
HP:0003367	Abnormal femoral neck morphology	1311	COMP	OMIM:132400
HP:0003367	Abnormal femoral neck morphology	6399	TRAPPC2	ORPHA:93284
HP:0003367	Abnormal femoral neck morphology	6399	TRAPPC2	OMIM:313400
HP:0003367	Abnormal femoral neck morphology	65992	DDRGK1	OMIM:602557
HP:0003367	Abnormal femoral neck morphology	9131	AIFM1	OMIM:300232
HP:0003367	Abnormal femoral neck morphology	5885	RAD21	OMIM:614701
HP:0003367	Abnormal femoral neck morphology	89970	RSPRY1	OMIM:616723
HP:0003367	Abnormal femoral neck morphology	89970	RSPRY1	ORPHA:457395
HP:0003367	Abnormal femoral neck morphology	755	CFAP410	OMIM:602271
HP:0003367	Abnormal femoral neck morphology	4796	TONSL	ORPHA:93357
HP:0003367	Abnormal femoral neck morphology	59341	TRPV4	ORPHA:93314
HP:0003367	Abnormal femoral neck morphology	59341	TRPV4	OMIM:113500
HP:0003367	Abnormal femoral neck morphology	91147	TMEM67	OMIM:602152
HP:0003367	Abnormal femoral neck morphology	8720	MBTPS1	OMIM:618392
HP:0003367	Abnormal femoral neck morphology	10651	MTX2	OMIM:619127
HP:0003367	Abnormal femoral neck morphology	23233	EXOC6B	OMIM:618395
HP:0003367	Abnormal femoral neck morphology	8838	CCN6	ORPHA:1159
HP:0003367	Abnormal femoral neck morphology	1836	SLC26A2	ORPHA:93307
HP:0003367	Abnormal femoral neck morphology	10216	PRG4	ORPHA:2848
HP:0003367	Abnormal femoral neck morphology	388015	RTL1	ORPHA:96334
HP:0003367	Abnormal femoral neck morphology	8788	DLK1	ORPHA:96334
HP:0003367	Abnormal femoral neck morphology	55384	MEG3	ORPHA:96334
HP:0003367	Abnormal femoral neck morphology	124583	CANT1	OMIM:251450
HP:0003367	Abnormal femoral neck morphology	124583	CANT1	OMIM:617719
HP:0003367	Abnormal femoral neck morphology	4148	MATN3	OMIM:607078
HP:0003367	Abnormal femoral neck morphology	126792	B3GALT6	OMIM:271640
HP:0003367	Abnormal femoral neck morphology	10940	POP1	OMIM:617396
HP:0003367	Abnormal femoral neck morphology	4318	MMP9	OMIM:613073
HP:0003367	Abnormal femoral neck morphology	84068	SLC10A7	OMIM:618363
HP:0003367	Abnormal femoral neck morphology	5286	PIK3C2A	OMIM:618440
HP:0003367	Abnormal femoral neck morphology	9469	CHST3	OMIM:143095
HP:0003367	Abnormal femoral neck morphology	2261	FGFR3	OMIM:146000
HP:0003367	Abnormal femoral neck morphology	2261	FGFR3	OMIM:100800
HP:0003367	Abnormal femoral neck morphology	1108	CHD4	OMIM:617159
HP:0003367	Abnormal femoral neck morphology	54187	NANS	OMIM:610442
HP:0003367	Abnormal femoral neck morphology	64131	XYLT1	ORPHA:370930
HP:0003367	Abnormal femoral neck morphology	658	BMPR1B	OMIM:609441
HP:0003367	Abnormal femoral neck morphology	91252	SLC39A13	ORPHA:157965
HP:0003367	Abnormal femoral neck morphology	91252	SLC39A13	OMIM:612350
HP:0003367	Abnormal femoral neck morphology	860	RUNX2	OMIM:119600
HP:0003367	Abnormal femoral neck morphology	9742	IFT140	OMIM:266920
HP:0003367	Abnormal femoral neck morphology	80169	CTC1	OMIM:612199
HP:0003367	Abnormal femoral neck morphology	3930	LBR	OMIM:618019
HP:0003367	Abnormal femoral neck morphology	25886	POC1A	OMIM:614813
HP:0003367	Abnormal femoral neck morphology	5830	PEX5	OMIM:616716
HP:0003368	Abnormal femoral head morphology	9653	HS2ST1	OMIM:619194
HP:0003368	Abnormal femoral head morphology	9742	IFT140	OMIM:266920
HP:0003368	Abnormal femoral head morphology	8985	PLOD3	OMIM:612394
HP:0003368	Abnormal femoral head morphology	2720	GLB1	OMIM:253010
HP:0003368	Abnormal femoral head morphology	9469	CHST3	OMIM:143095
HP:0003368	Abnormal femoral head morphology	2137	EXTL3	OMIM:617425
HP:0003368	Abnormal femoral head morphology	124583	CANT1	OMIM:617719
HP:0003368	Abnormal femoral head morphology	9382	COG1	OMIM:611209
HP:0003368	Abnormal femoral head morphology	990	CDC6	OMIM:613805
HP:0003368	Abnormal femoral head morphology	5286	PIK3C2A	ORPHA:557003
HP:0003368	Abnormal femoral head morphology	50485	SMARCAL1	ORPHA:1830
HP:0003368	Abnormal femoral head morphology	54808	DYM	ORPHA:239
HP:0003368	Abnormal femoral head morphology	3835	KIF22	ORPHA:93360
HP:0003368	Abnormal femoral head morphology	3835	KIF22	OMIM:603546
HP:0003368	Abnormal femoral head morphology	91252	SLC39A13	ORPHA:157965
HP:0003368	Abnormal femoral head morphology	91252	SLC39A13	OMIM:612350
HP:0003368	Abnormal femoral head morphology	84572	GNPTG	OMIM:252605
HP:0003368	Abnormal femoral head morphology	8838	CCN6	ORPHA:1159
HP:0003368	Abnormal femoral head morphology	176	ACAN	OMIM:608361
HP:0003368	Abnormal femoral head morphology	1297	COL9A1	OMIM:614134
HP:0003368	Abnormal femoral head morphology	1297	COL9A1	OMIM:614135
HP:0003368	Abnormal femoral head morphology	9496	TBX4	OMIM:147891
HP:0003368	Abnormal femoral head morphology	1300	COL10A1	OMIM:156500
HP:0003368	Abnormal femoral head morphology	1302	COL11A2	OMIM:215150
HP:0003368	Abnormal femoral head morphology	5830	PEX5	OMIM:616716
HP:0003368	Abnormal femoral head morphology	538	ATP7A	ORPHA:198
HP:0003368	Abnormal femoral head morphology	55898	UNC45A	OMIM:619377
HP:0003368	Abnormal femoral head morphology	26277	TINF2	OMIM:613990
HP:0003368	Abnormal femoral head morphology	91754	NEK9	OMIM:614262
HP:0003368	Abnormal femoral head morphology	9652	SKIC3	OMIM:222470
HP:0003368	Abnormal femoral head morphology	1857	DVL3	ORPHA:3107
HP:0003368	Abnormal femoral head morphology	7474	WNT5A	ORPHA:3107
HP:0003368	Abnormal femoral head morphology	1855	DVL1	ORPHA:3107
HP:0003368	Abnormal femoral head morphology	2535	FZD2	ORPHA:3107
HP:0003368	Abnormal femoral head morphology	1387	CREBBP	ORPHA:353277
HP:0003368	Abnormal femoral head morphology	1387	CREBBP	ORPHA:353281
HP:0003368	Abnormal femoral head morphology	2335	FN1	ORPHA:93315
HP:0003368	Abnormal femoral head morphology	1280	COL2A1	ORPHA:93315
HP:0003368	Abnormal femoral head morphology	1280	COL2A1	OMIM:608805
HP:0003368	Abnormal femoral head morphology	1280	COL2A1	OMIM:150600
HP:0003368	Abnormal femoral head morphology	81031	SLC2A10	ORPHA:3342
HP:0003368	Abnormal femoral head morphology	9719	ADAMTSL2	ORPHA:1901
HP:0003368	Abnormal femoral head morphology	9509	ADAMTS2	ORPHA:1901
HP:0003368	Abnormal femoral head morphology	4796	TONSL	ORPHA:93357
HP:0003368	Abnormal femoral head morphology	4148	MATN3	ORPHA:93311
HP:0003368	Abnormal femoral head morphology	2131	EXT1	ORPHA:502
HP:0003368	Abnormal femoral head morphology	7227	TRPS1	ORPHA:502
HP:0003368	Abnormal femoral head morphology	7227	TRPS1	OMIM:190350
HP:0003368	Abnormal femoral head morphology	7227	TRPS1	OMIM:190351
HP:0003368	Abnormal femoral head morphology	7227	TRPS1	ORPHA:77258
HP:0003368	Abnormal femoral head morphology	55325	UFSP2	OMIM:142669
HP:0003368	Abnormal femoral head morphology	11277	TREX1	ORPHA:247691
HP:0003368	Abnormal femoral head morphology	59341	TRPV4	OMIM:617383
HP:0003368	Abnormal femoral head morphology	1311	COMP	OMIM:132400
HP:0003368	Abnormal femoral head morphology	1311	COMP	ORPHA:93308
HP:0003368	Abnormal femoral head morphology	2033	EP300	ORPHA:353284
HP:0003368	Abnormal femoral head morphology	10847	SRCAP	ORPHA:2044
HP:0003368	Abnormal femoral head morphology	25782	RAB3GAP2	OMIM:212720
HP:0003368	Abnormal femoral head morphology	64374	SIL1	ORPHA:559
HP:0003368	Abnormal femoral head morphology	51763	INPP5K	ORPHA:559
HP:0003368	Abnormal femoral head morphology	1278	COL1A2	ORPHA:1899
HP:0003368	Abnormal femoral head morphology	1277	COL1A1	ORPHA:1899
HP:0003368	Abnormal femoral head morphology	89970	RSPRY1	ORPHA:457395
HP:0003368	Abnormal femoral head morphology	89970	RSPRY1	OMIM:616723
HP:0003368	Abnormal femoral head morphology	5979	RET	OMIM:162300
HP:0003368	Abnormal femoral head morphology	2972	BRF1	OMIM:616202
HP:0003368	Abnormal femoral head morphology	5116	PCNT	OMIM:210720
HP:0003368	Abnormal femoral head morphology	51119	SBDS	OMIM:260400
HP:0003368	Abnormal femoral head morphology	51119	SBDS	ORPHA:811
HP:0003368	Abnormal femoral head morphology	134218	DNAJC21	OMIM:260400
HP:0003368	Abnormal femoral head morphology	134218	DNAJC21	ORPHA:811
HP:0003368	Abnormal femoral head morphology	6729	SRP54	OMIM:260400
HP:0003368	Abnormal femoral head morphology	6729	SRP54	ORPHA:811
HP:0003368	Abnormal femoral head morphology	79631	EFL1	ORPHA:811
HP:0003368	Abnormal femoral head morphology	9131	AIFM1	OMIM:300232
HP:0003368	Abnormal femoral head morphology	79848	CSPP1	ORPHA:397715
HP:0003368	Abnormal femoral head morphology	9786	KIAA0586	ORPHA:397715
HP:0003368	Abnormal femoral head morphology	3459	IFNGR1	OMIM:209950
HP:0003368	Abnormal femoral head morphology	3425	IDUA	OMIM:607014
HP:0003368	Abnormal femoral head morphology	10940	POP1	OMIM:617396
HP:0003368	Abnormal femoral head morphology	26146	TRAF3IP1	OMIM:616629
HP:0003368	Abnormal femoral head morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0003368	Abnormal femoral head morphology	83452	RAB33B	OMIM:615222
HP:0003368	Abnormal femoral head morphology	10216	PRG4	ORPHA:2848
HP:0003368	Abnormal femoral head morphology	55699	IARS2	OMIM:616007
HP:0003368	Abnormal femoral head morphology	1836	SLC26A2	ORPHA:93307
HP:0003368	Abnormal femoral head morphology	6913	TBX15	OMIM:260660
HP:0003368	Abnormal femoral head morphology	9759	HDAC4	OMIM:619797
HP:0003368	Abnormal femoral head morphology	5626	PROP1	ORPHA:226307
HP:0003368	Abnormal femoral head morphology	89884	LHX4	ORPHA:226307
HP:0003368	Abnormal femoral head morphology	8022	LHX3	ORPHA:226307
HP:0003368	Abnormal femoral head morphology	5449	POU1F1	ORPHA:226307
HP:0003368	Abnormal femoral head morphology	8820	HESX1	ORPHA:226307
HP:0003368	Abnormal femoral head morphology	405753	DUOXA2	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	6528	SLC5A5	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	7038	TG	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	7173	TPO	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	389434	IYD	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	50506	DUOX2	ORPHA:95716
HP:0003368	Abnormal femoral head morphology	7253	TSHR	ORPHA:90673
HP:0003368	Abnormal femoral head morphology	7252	TSHB	ORPHA:90674
HP:0003368	Abnormal femoral head morphology	126792	B3GALT6	OMIM:271640
HP:0003368	Abnormal femoral head morphology	60561	RINT1	OMIM:618641
HP:0003368	Abnormal femoral head morphology	3313	HSPA9	OMIM:616854
HP:0003368	Abnormal femoral head morphology	6399	TRAPPC2	ORPHA:93284
HP:0003368	Abnormal femoral head morphology	3549	IHH	OMIM:607778
HP:0003368	Abnormal femoral head morphology	10651	MTX2	OMIM:619127
HP:0006429	Broad femoral neck	2535	FZD2	OMIM:164745
HP:0006429	Broad femoral neck	90	ACVR1	OMIM:135100
HP:0006429	Broad femoral neck	1300	COL10A1	OMIM:156500
HP:0006429	Broad femoral neck	55325	UFSP2	ORPHA:2114
HP:0006429	Broad femoral neck	55325	UFSP2	OMIM:142669
HP:0006429	Broad femoral neck	5745	PTH1R	OMIM:600002
HP:0006429	Broad femoral neck	91252	SLC39A13	ORPHA:157965
HP:0006429	Broad femoral neck	91252	SLC39A13	OMIM:612350
HP:0006429	Broad femoral neck	372	ARCN1	OMIM:617164
HP:0006429	Broad femoral neck	83452	RAB33B	OMIM:615222
HP:0006429	Broad femoral neck	1311	COMP	OMIM:132400
HP:0006429	Broad femoral neck	8838	CCN6	ORPHA:1159
HP:0006429	Broad femoral neck	1836	SLC26A2	ORPHA:93307
HP:0006429	Broad femoral neck	79639	TMEM53	OMIM:619727
HP:0006429	Broad femoral neck	25782	RAB3GAP2	OMIM:212720
HP:0006429	Broad femoral neck	9382	COG1	OMIM:611209
HP:0006429	Broad femoral neck	124583	CANT1	OMIM:251450
HP:0006429	Broad femoral neck	54808	DYM	ORPHA:239
HP:0006429	Broad femoral neck	4148	MATN3	OMIM:607078
HP:0003370	Flat capital femoral epiphysis	1280	COL2A1	OMIM:271700
HP:0003370	Flat capital femoral epiphysis	1280	COL2A1	OMIM:609162
HP:0003370	Flat capital femoral epiphysis	1280	COL2A1	ORPHA:166011
HP:0003370	Flat capital femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0003370	Flat capital femoral epiphysis	3835	KIF22	ORPHA:93360
HP:0003370	Flat capital femoral epiphysis	3835	KIF22	OMIM:603546
HP:0003370	Flat capital femoral epiphysis	1836	SLC26A2	OMIM:226900
HP:0003370	Flat capital femoral epiphysis	91252	SLC39A13	ORPHA:157965
HP:0003370	Flat capital femoral epiphysis	91252	SLC39A13	OMIM:612350
HP:0003370	Flat capital femoral epiphysis	84572	GNPTG	OMIM:252605
HP:0003370	Flat capital femoral epiphysis	8838	CCN6	ORPHA:1159
HP:0003370	Flat capital femoral epiphysis	176	ACAN	OMIM:608361
HP:0003370	Flat capital femoral epiphysis	1297	COL9A1	OMIM:614134
HP:0003370	Flat capital femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0003370	Flat capital femoral epiphysis	7227	TRPS1	OMIM:190350
HP:0003370	Flat capital femoral epiphysis	9496	TBX4	OMIM:147891
HP:0003370	Flat capital femoral epiphysis	4796	TONSL	ORPHA:93357
HP:0003370	Flat capital femoral epiphysis	4796	TONSL	OMIM:271510
HP:0003371	Enlargement of the proximal femoral epiphysis	8838	CCN6	ORPHA:1159
HP:0003371	Enlargement of the proximal femoral epiphysis	8838	CCN6	OMIM:208230
HP:0003371	Enlargement of the proximal femoral epiphysis	1300	COL10A1	OMIM:156500
HP:0008839	Hypoplastic pelvis	1311	COMP	ORPHA:750
HP:0008839	Hypoplastic pelvis	2074	ERCC6	OMIM:133540
HP:0008839	Hypoplastic pelvis	2261	FGFR3	OMIM:187600
HP:0008839	Hypoplastic pelvis	1280	COL2A1	OMIM:156550
HP:0008839	Hypoplastic pelvis	1280	COL2A1	ORPHA:85166
HP:0008839	Hypoplastic pelvis	7476	WNT7A	OMIM:228930
HP:0008839	Hypoplastic pelvis	153241	CEP120	OMIM:616300
HP:0008839	Hypoplastic pelvis	64840	PORCN	ORPHA:2092
HP:0008839	Hypoplastic pelvis	340419	RSPO2	OMIM:618022
HP:0008839	Hypoplastic pelvis	50485	SMARCAL1	ORPHA:1830
HP:0008839	Hypoplastic pelvis	50814	NSDHL	OMIM:308050
HP:0008839	Hypoplastic pelvis	9820	CUL7	ORPHA:2616
HP:0008839	Hypoplastic pelvis	9820	CUL7	OMIM:273750
HP:0008839	Hypoplastic pelvis	23363	OBSL1	ORPHA:2616
HP:0008839	Hypoplastic pelvis	83987	CCDC8	ORPHA:2616
HP:0008839	Hypoplastic pelvis	25886	POC1A	OMIM:614813
HP:0008839	Hypoplastic pelvis	1161	ERCC8	OMIM:216400
HP:0008839	Hypoplastic pelvis	7473	WNT3	OMIM:273395
HP:0003090	Hypoplasia of the capital femoral epiphysis	1311	COMP	ORPHA:750
HP:0003090	Hypoplasia of the capital femoral epiphysis	9653	HS2ST1	OMIM:619194
HP:0003090	Hypoplasia of the capital femoral epiphysis	3835	KIF22	OMIM:603546
HP:0003090	Hypoplasia of the capital femoral epiphysis	9742	IFT140	OMIM:266920
HP:0003090	Hypoplasia of the capital femoral epiphysis	8985	PLOD3	OMIM:612394
HP:0003090	Hypoplasia of the capital femoral epiphysis	2720	GLB1	OMIM:253010
HP:0003090	Hypoplasia of the capital femoral epiphysis	9469	CHST3	OMIM:143095
HP:0003090	Hypoplasia of the capital femoral epiphysis	2137	EXTL3	OMIM:617425
HP:0003090	Hypoplasia of the capital femoral epiphysis	1280	COL2A1	ORPHA:85166
HP:0003090	Hypoplasia of the capital femoral epiphysis	6399	TRAPPC2	OMIM:313400
HP:0003090	Hypoplasia of the capital femoral epiphysis	50485	SMARCAL1	OMIM:242900
HP:0003090	Hypoplasia of the capital femoral epiphysis	124583	CANT1	OMIM:617719
HP:0003090	Hypoplasia of the capital femoral epiphysis	9719	ADAMTSL2	OMIM:231050
HP:0003090	Hypoplasia of the capital femoral epiphysis	9382	COG1	OMIM:611209
HP:0003090	Hypoplasia of the capital femoral epiphysis	990	CDC6	OMIM:613805
HP:0003090	Hypoplasia of the capital femoral epiphysis	54808	DYM	ORPHA:239
HP:0003090	Hypoplasia of the capital femoral epiphysis	5286	PIK3C2A	ORPHA:557003
HP:0003090	Hypoplasia of the capital femoral epiphysis	4148	MATN3	OMIM:607078
HP:0003375	Narrow greater sciatic notch	2137	EXTL3	ORPHA:508533
HP:0003375	Narrow greater sciatic notch	2137	EXTL3	OMIM:617425
HP:0003375	Narrow greater sciatic notch	54808	DYM	OMIM:223800
HP:0003375	Narrow greater sciatic notch	59341	TRPV4	OMIM:184252
HP:0003375	Narrow greater sciatic notch	59341	TRPV4	OMIM:156530
HP:0003375	Narrow greater sciatic notch	65992	DDRGK1	OMIM:602557
HP:0003375	Narrow greater sciatic notch	1280	COL2A1	OMIM:184250
HP:0003375	Narrow greater sciatic notch	1280	COL2A1	ORPHA:93316
HP:0003375	Narrow greater sciatic notch	153241	CEP120	OMIM:616300
HP:0003375	Narrow greater sciatic notch	2990	GUSB	OMIM:253220
HP:0003375	Narrow greater sciatic notch	2261	FGFR3	OMIM:100800
HP:0003375	Narrow greater sciatic notch	2261	FGFR3	ORPHA:15
HP:0003375	Narrow greater sciatic notch	755	CFAP410	OMIM:602271
HP:0003375	Narrow greater sciatic notch	145258	GSC	OMIM:602471
HP:0003375	Narrow greater sciatic notch	4148	MATN3	OMIM:608728
HP:0003375	Narrow greater sciatic notch	79796	ALG9	ORPHA:79328
HP:0003375	Narrow greater sciatic notch	79796	ALG9	OMIM:263210
HP:0003375	Narrow greater sciatic notch	1301	COL11A1	OMIM:228520
HP:0003375	Narrow greater sciatic notch	5130	PCYT1A	ORPHA:85167
HP:0003375	Narrow greater sciatic notch	5130	PCYT1A	OMIM:608940
HP:0003375	Narrow greater sciatic notch	51119	SBDS	OMIM:260400
HP:0003375	Narrow greater sciatic notch	134218	DNAJC21	OMIM:260400
HP:0003375	Narrow greater sciatic notch	6729	SRP54	OMIM:260400
HP:0003375	Narrow greater sciatic notch	27152	INTU	OMIM:617925
HP:0003375	Narrow greater sciatic notch	2719	GPC3	OMIM:312870
HP:0003375	Narrow greater sciatic notch	2239	GPC4	OMIM:312870
HP:0003375	Narrow greater sciatic notch	2879	GPX4	OMIM:250220
HP:0003376	Steppage gait	7072	TIA1	OMIM:604454
HP:0003376	Steppage gait	7072	TIA1	ORPHA:603
HP:0003376	Steppage gait	4141	MARS1	OMIM:616280
HP:0003376	Steppage gait	4000	LMNA	OMIM:605588
HP:0003376	Steppage gait	4000	LMNA	ORPHA:98856
HP:0003376	Steppage gait	7273	TTN	OMIM:600334
HP:0003376	Steppage gait	7273	TTN	ORPHA:609
HP:0003376	Steppage gait	65260	COA7	OMIM:618387
HP:0003376	Steppage gait	5376	PMP22	OMIM:118300
HP:0003376	Steppage gait	5376	PMP22	OMIM:118220
HP:0003376	Steppage gait	5376	PMP22	ORPHA:90658
HP:0003376	Steppage gait	5376	PMP22	OMIM:145900
HP:0003376	Steppage gait	55697	VAC14	OMIM:617054
HP:0003376	Steppage gait	3094	HINT1	ORPHA:324442
HP:0003376	Steppage gait	4625	MYH7	ORPHA:437572
HP:0003376	Steppage gait	91574	MTRFR	OMIM:615035
HP:0003376	Steppage gait	8988	HSPB3	OMIM:613376
HP:0003376	Steppage gait	7415	VCP	ORPHA:435387
HP:0003376	Steppage gait	9927	MFN2	OMIM:609260
HP:0003376	Steppage gait	9927	MFN2	ORPHA:99947
HP:0003376	Steppage gait	9927	MFN2	OMIM:601152
HP:0003376	Steppage gait	50717	DCAF8	OMIM:610100
HP:0003376	Steppage gait	4747	NEFL	ORPHA:99939
HP:0003376	Steppage gait	4747	NEFL	OMIM:607684
HP:0003376	Steppage gait	4747	NEFL	OMIM:617882
HP:0003376	Steppage gait	4747	NEFL	ORPHA:101085
HP:0003376	Steppage gait	5165	PDK3	OMIM:300905
HP:0003376	Steppage gait	5165	PDK3	ORPHA:352675
HP:0003376	Steppage gait	5428	POLG	OMIM:258450
HP:0003376	Steppage gait	55775	TDP1	ORPHA:94124
HP:0003376	Steppage gait	55775	TDP1	OMIM:607250
HP:0003376	Steppage gait	4703	NEB	OMIM:256030
HP:0003376	Steppage gait	3315	HSPB1	OMIM:606595
HP:0003376	Steppage gait	3315	HSPB1	ORPHA:99940
HP:0003376	Steppage gait	7879	RAB7A	OMIM:600882
HP:0003376	Steppage gait	1959	EGR2	OMIM:607678
HP:0003376	Steppage gait	1959	EGR2	OMIM:145900
HP:0003376	Steppage gait	4359	MPZ	OMIM:607677
HP:0003376	Steppage gait	4359	MPZ	OMIM:118200
HP:0003376	Steppage gait	4359	MPZ	OMIM:607736
HP:0003376	Steppage gait	4359	MPZ	OMIM:145900
HP:0003376	Steppage gait	55958	KLHL9	ORPHA:399081
HP:0003376	Steppage gait	476	ATP1A1	OMIM:618036
HP:0003376	Steppage gait	5375	PMP2	OMIM:618279
HP:0003376	Steppage gait	23095	KIF1B	OMIM:118210
HP:0003376	Steppage gait	3035	HARS1	ORPHA:488333
HP:0003376	Steppage gait	3035	HARS1	OMIM:616625
HP:0003376	Steppage gait	90678	LRSAM1	OMIM:614436
HP:0003376	Steppage gait	81846	SBF2	OMIM:604563
HP:0003376	Steppage gait	23299	BICD2	OMIM:615290
HP:0003376	Steppage gait	2273	FHL1	OMIM:300695
HP:0003376	Steppage gait	8878	SQSTM1	OMIM:617158
HP:0003376	Steppage gait	8878	SQSTM1	ORPHA:603
HP:0003376	Steppage gait	57449	PLEKHG5	OMIM:615376
HP:0003376	Steppage gait	91137	SLC25A46	OMIM:616505
HP:0003376	Steppage gait	9997	SCO2	ORPHA:521411
HP:0003376	Steppage gait	122622	ADSS1	ORPHA:482601
HP:0003376	Steppage gait	10020	GNE	ORPHA:602
HP:0003376	Steppage gait	8139	GAN	OMIM:256850
HP:0003376	Steppage gait	4547	MTTP	ORPHA:14
HP:0003376	Steppage gait	55532	SLC30A10	OMIM:613280
HP:0003376	Steppage gait	59345	GNB4	OMIM:615185
HP:0003376	Steppage gait	1193	CLIC2	ORPHA:324410
HP:0003376	Steppage gait	3508	IGHMBP2	OMIM:616155
HP:0003376	Steppage gait	64423	INF2	OMIM:614455
HP:0003376	Steppage gait	57716	PRX	OMIM:614895
HP:0003376	Steppage gait	57716	PRX	OMIM:145900
HP:0003376	Steppage gait	1337	COX6A1	OMIM:616039
HP:0003376	Steppage gait	3735	KARS1	OMIM:613641
HP:0003376	Steppage gait	2903	GRIN2A	ORPHA:98818
HP:0003376	Steppage gait	50846	DHH	ORPHA:168563
HP:0003376	Steppage gait	54332	GDAP1	OMIM:608340
HP:0003376	Steppage gait	10558	SPTLC1	ORPHA:36386
HP:0003376	Steppage gait	25923	ATL3	ORPHA:36386
HP:0003376	Steppage gait	9517	SPTLC2	ORPHA:36386
HP:0003376	Steppage gait	51062	ATL1	ORPHA:36386
HP:0003376	Steppage gait	8729	GBF1	OMIM:606483
HP:0009027	Foot dorsiflexor weakness	4141	MARS1	OMIM:616280
HP:0009027	Foot dorsiflexor weakness	1410	CRYAB	OMIM:608810
HP:0009027	Foot dorsiflexor weakness	1410	CRYAB	ORPHA:399058
HP:0009027	Foot dorsiflexor weakness	5376	PMP22	OMIM:118300
HP:0009027	Foot dorsiflexor weakness	5376	PMP22	ORPHA:90658
HP:0009027	Foot dorsiflexor weakness	5376	PMP22	OMIM:118220
HP:0009027	Foot dorsiflexor weakness	5376	PMP22	OMIM:145900
HP:0009027	Foot dorsiflexor weakness	3094	HINT1	ORPHA:324442
HP:0009027	Foot dorsiflexor weakness	3094	HINT1	OMIM:137200
HP:0009027	Foot dorsiflexor weakness	127833	SYT2	OMIM:616040
HP:0009027	Foot dorsiflexor weakness	59341	TRPV4	OMIM:606071
HP:0009027	Foot dorsiflexor weakness	22880	MORC2	OMIM:616688
HP:0009027	Foot dorsiflexor weakness	22880	MORC2	ORPHA:466768
HP:0009027	Foot dorsiflexor weakness	4311	MME	OMIM:617017
HP:0009027	Foot dorsiflexor weakness	4311	MME	ORPHA:497764
HP:0009027	Foot dorsiflexor weakness	4747	NEFL	OMIM:607684
HP:0009027	Foot dorsiflexor weakness	4747	NEFL	ORPHA:101085
HP:0009027	Foot dorsiflexor weakness	4703	NEB	OMIM:256030
HP:0009027	Foot dorsiflexor weakness	4703	NEB	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	4703	NEB	ORPHA:399103
HP:0009027	Foot dorsiflexor weakness	3315	HSPB1	OMIM:606595
HP:0009027	Foot dorsiflexor weakness	4625	MYH7	ORPHA:59135
HP:0009027	Foot dorsiflexor weakness	4625	MYH7	ORPHA:437572
HP:0009027	Foot dorsiflexor weakness	9499	MYOT	ORPHA:266
HP:0009027	Foot dorsiflexor weakness	4000	LMNA	OMIM:181350
HP:0009027	Foot dorsiflexor weakness	4000	LMNA	OMIM:605588
HP:0009027	Foot dorsiflexor weakness	7879	RAB7A	OMIM:600882
HP:0009027	Foot dorsiflexor weakness	1959	EGR2	OMIM:607678
HP:0009027	Foot dorsiflexor weakness	1959	EGR2	OMIM:145900
HP:0009027	Foot dorsiflexor weakness	10743	RAI1	ORPHA:477817
HP:0009027	Foot dorsiflexor weakness	58	ACTA1	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	58	ACTA1	OMIM:616852
HP:0009027	Foot dorsiflexor weakness	58	ACTA1	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	7169	TPM2	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	7169	TPM2	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	10324	KLHL41	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	56203	LMOD3	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	1073	CFL2	ORPHA:171436
HP:0009027	Foot dorsiflexor weakness	7273	TTN	ORPHA:178464
HP:0009027	Foot dorsiflexor weakness	7273	TTN	ORPHA:609
HP:0009027	Foot dorsiflexor weakness	7273	TTN	OMIM:603689
HP:0009027	Foot dorsiflexor weakness	6905	TBCE	ORPHA:496756
HP:0009027	Foot dorsiflexor weakness	6905	TBCE	OMIM:617207
HP:0009027	Foot dorsiflexor weakness	84876	ORAI1	OMIM:615883
HP:0009027	Foot dorsiflexor weakness	90678	LRSAM1	OMIM:614436
HP:0009027	Foot dorsiflexor weakness	1130	LYST	OMIM:214500
HP:0009027	Foot dorsiflexor weakness	81846	SBF2	OMIM:604563
HP:0009027	Foot dorsiflexor weakness	5428	POLG	ORPHA:298
HP:0009027	Foot dorsiflexor weakness	1890	TYMP	ORPHA:298
HP:0009027	Foot dorsiflexor weakness	3980	LIG3	ORPHA:298
HP:0009027	Foot dorsiflexor weakness	50484	RRM2B	ORPHA:298
HP:0009027	Foot dorsiflexor weakness	2273	FHL1	OMIM:300695
HP:0009027	Foot dorsiflexor weakness	23347	SMCHD1	OMIM:158901
HP:0009027	Foot dorsiflexor weakness	8888	MCM3AP	OMIM:618124
HP:0009027	Foot dorsiflexor weakness	4358	MPV17	OMIM:618400
HP:0009027	Foot dorsiflexor weakness	5832	ALDH18A1	OMIM:616586
HP:0009027	Foot dorsiflexor weakness	116228	COX20	OMIM:619054
HP:0009027	Foot dorsiflexor weakness	8878	SQSTM1	OMIM:617158
HP:0009027	Foot dorsiflexor weakness	8878	SQSTM1	ORPHA:603
HP:0009027	Foot dorsiflexor weakness	182	JAG1	OMIM:619574
HP:0009027	Foot dorsiflexor weakness	64856	VWA1	OMIM:619216
HP:0009027	Foot dorsiflexor weakness	7072	TIA1	ORPHA:603
HP:0009027	Foot dorsiflexor weakness	29967	LRP12	OMIM:164310
HP:0009027	Foot dorsiflexor weakness	10020	GNE	ORPHA:602
HP:0009027	Foot dorsiflexor weakness	26278	SACS	ORPHA:98
HP:0009027	Foot dorsiflexor weakness	57190	SELENON	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	4633	MYL2	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	3679	ITGA7	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	9200	HACD1	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	7170	TPM3	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	51776	MAP3K20	ORPHA:2020
HP:0009027	Foot dorsiflexor weakness	2992	GYG1	ORPHA:263297
HP:0009027	Foot dorsiflexor weakness	8557	TCAP	OMIM:601954
HP:0009027	Foot dorsiflexor weakness	547	KIF1A	OMIM:614213
HP:0009027	Foot dorsiflexor weakness	64423	INF2	OMIM:614455
HP:0009027	Foot dorsiflexor weakness	3178	HNRNPA1	OMIM:615424
HP:0009027	Foot dorsiflexor weakness	3735	KARS1	OMIM:613641
HP:0009027	Foot dorsiflexor weakness	88	ACTN2	OMIM:618655
HP:0009027	Foot dorsiflexor weakness	2783	GNB2	OMIM:619503
HP:0009027	Foot dorsiflexor weakness	89874	SLC25A21	OMIM:618811
HP:0009027	Foot dorsiflexor weakness	2705	GJB1	ORPHA:1175
HP:0009027	Foot dorsiflexor weakness	10755	GIPC1	ORPHA:98897
HP:0009027	Foot dorsiflexor weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0009027	Foot dorsiflexor weakness	54332	GDAP1	OMIM:608340
HP:0009027	Foot dorsiflexor weakness	10558	SPTLC1	ORPHA:36386
HP:0009027	Foot dorsiflexor weakness	25923	ATL3	ORPHA:36386
HP:0009027	Foot dorsiflexor weakness	9517	SPTLC2	ORPHA:36386
HP:0009027	Foot dorsiflexor weakness	51062	ATL1	ORPHA:36386
HP:0009027	Foot dorsiflexor weakness	65260	COA7	OMIM:618387
HP:0009027	Foot dorsiflexor weakness	91574	MTRFR	OMIM:615035
HP:0009027	Foot dorsiflexor weakness	91574	MTRFR	ORPHA:320375
HP:0009027	Foot dorsiflexor weakness	7415	VCP	ORPHA:435387
HP:0009027	Foot dorsiflexor weakness	7415	VCP	ORPHA:329478
HP:0009027	Foot dorsiflexor weakness	9927	MFN2	OMIM:609260
HP:0009027	Foot dorsiflexor weakness	9927	MFN2	OMIM:617087
HP:0009027	Foot dorsiflexor weakness	9927	MFN2	ORPHA:99947
HP:0009027	Foot dorsiflexor weakness	57863	CADM3	OMIM:619519
HP:0009027	Foot dorsiflexor weakness	2318	FLNC	ORPHA:63273
HP:0009027	Foot dorsiflexor weakness	9990	SLC12A6	OMIM:620068
HP:0009027	Foot dorsiflexor weakness	476	ATP1A1	OMIM:618036
HP:0009027	Foot dorsiflexor weakness	23095	KIF1B	OMIM:118210
HP:0009027	Foot dorsiflexor weakness	79152	FA2H	ORPHA:171629
HP:0009027	Foot dorsiflexor weakness	11155	LDB3	ORPHA:98912
HP:0009027	Foot dorsiflexor weakness	1303	COL12A1	ORPHA:610
HP:0009027	Foot dorsiflexor weakness	1291	COL6A1	ORPHA:610
HP:0009027	Foot dorsiflexor weakness	1292	COL6A2	ORPHA:610
HP:0009027	Foot dorsiflexor weakness	1293	COL6A3	ORPHA:610
HP:0009027	Foot dorsiflexor weakness	10280	SIGMAR1	OMIM:605726
HP:0009027	Foot dorsiflexor weakness	4359	MPZ	OMIM:118200
HP:0009027	Foot dorsiflexor weakness	4359	MPZ	OMIM:607736
HP:0009027	Foot dorsiflexor weakness	4359	MPZ	OMIM:145900
HP:0009027	Foot dorsiflexor weakness	339855	KY	OMIM:617114
HP:0009027	Foot dorsiflexor weakness	3300	DNAJB2	OMIM:614881
HP:0009027	Foot dorsiflexor weakness	57104	PNPLA2	ORPHA:98908
HP:0009027	Foot dorsiflexor weakness	3930	LBR	OMIM:169400
HP:0009027	Foot dorsiflexor weakness	80208	SPG11	OMIM:616668
HP:0009027	Foot dorsiflexor weakness	9997	SCO2	ORPHA:521411
HP:0009027	Foot dorsiflexor weakness	122622	ADSS1	ORPHA:482601
HP:0009027	Foot dorsiflexor weakness	3508	IGHMBP2	OMIM:616155
HP:0009027	Foot dorsiflexor weakness	26580	BSCL2	ORPHA:100998
HP:0009027	Foot dorsiflexor weakness	16	AARS1	OMIM:613287
HP:0009027	Foot dorsiflexor weakness	1337	COX6A1	OMIM:616039
HP:0009027	Foot dorsiflexor weakness	79628	SH3TC2	ORPHA:99949
HP:0009027	Foot dorsiflexor weakness	8291	DYSF	ORPHA:45448
HP:0009027	Foot dorsiflexor weakness	4771	NF2	ORPHA:637
HP:0009027	Foot dorsiflexor weakness	1674	DES	OMIM:181400
HP:0009027	Foot dorsiflexor weakness	57716	PRX	OMIM:145900
HP:0009027	Foot dorsiflexor weakness	65055	REEP1	OMIM:620011
HP:0009027	Foot dorsiflexor weakness	8729	GBF1	OMIM:606483
HP:0003378	Axonal degeneration/regeneration	7879	RAB7A	OMIM:600882
HP:0003378	Axonal degeneration/regeneration	4359	MPZ	OMIM:607736
HP:0003378	Axonal degeneration/regeneration	4359	MPZ	OMIM:607677
HP:0003378	Axonal degeneration/regeneration	4359	MPZ	OMIM:607791
HP:0003378	Axonal degeneration/regeneration	9927	MFN2	OMIM:609260
HP:0003378	Axonal degeneration/regeneration	9927	MFN2	OMIM:601152
HP:0003378	Axonal degeneration/regeneration	54332	GDAP1	OMIM:607706
HP:0003378	Axonal degeneration/regeneration	4000	LMNA	OMIM:605588
HP:0003378	Axonal degeneration/regeneration	90678	LRSAM1	OMIM:614436
HP:0003378	Axonal degeneration/regeneration	23095	KIF1B	OMIM:118210
HP:0003378	Axonal degeneration/regeneration	9990	SLC12A6	OMIM:218000
HP:0003378	Axonal degeneration/regeneration	8729	GBF1	OMIM:606483
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	OMIM:162500
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	OMIM:118300
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	OMIM:118220
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	OMIM:180800
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	ORPHA:640
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	ORPHA:3115
HP:0003431	Decreased motor nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0003431	Decreased motor nerve conduction velocity	4359	MPZ	OMIM:618184
HP:0003431	Decreased motor nerve conduction velocity	4359	MPZ	OMIM:180800
HP:0003431	Decreased motor nerve conduction velocity	4359	MPZ	OMIM:118200
HP:0003431	Decreased motor nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0003431	Decreased motor nerve conduction velocity	4359	MPZ	ORPHA:3115
HP:0003431	Decreased motor nerve conduction velocity	4000	LMNA	OMIM:605588
HP:0003431	Decreased motor nerve conduction velocity	4000	LMNA	ORPHA:98856
HP:0003431	Decreased motor nerve conduction velocity	11284	PNKP	OMIM:605589
HP:0003431	Decreased motor nerve conduction velocity	81857	MED25	OMIM:605589
HP:0003431	Decreased motor nerve conduction velocity	7384	UQCRC1	OMIM:619279
HP:0003431	Decreased motor nerve conduction velocity	8506	CNTNAP1	OMIM:618186
HP:0003431	Decreased motor nerve conduction velocity	22948	CCT5	ORPHA:139578
HP:0003431	Decreased motor nerve conduction velocity	22948	CCT5	OMIM:256840
HP:0003431	Decreased motor nerve conduction velocity	22880	MORC2	OMIM:616688
HP:0003431	Decreased motor nerve conduction velocity	7415	VCP	OMIM:616687
HP:0003431	Decreased motor nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0003431	Decreased motor nerve conduction velocity	9927	MFN2	OMIM:601152
HP:0003431	Decreased motor nerve conduction velocity	50717	DCAF8	OMIM:610100
HP:0003431	Decreased motor nerve conduction velocity	4747	NEFL	OMIM:607684
HP:0003431	Decreased motor nerve conduction velocity	4747	NEFL	OMIM:607734
HP:0003431	Decreased motor nerve conduction velocity	3315	HSPB1	OMIM:606595
HP:0003431	Decreased motor nerve conduction velocity	9990	SLC12A6	OMIM:620068
HP:0003431	Decreased motor nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0003431	Decreased motor nerve conduction velocity	8898	MTMR2	OMIM:601382
HP:0003431	Decreased motor nerve conduction velocity	7879	RAB7A	OMIM:600882
HP:0003431	Decreased motor nerve conduction velocity	57165	GJC2	OMIM:608804
HP:0003431	Decreased motor nerve conduction velocity	1959	EGR2	OMIM:607678
HP:0003431	Decreased motor nerve conduction velocity	1959	EGR2	OMIM:605253
HP:0003431	Decreased motor nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0003431	Decreased motor nerve conduction velocity	9150	CTDP1	OMIM:604168
HP:0003431	Decreased motor nerve conduction velocity	54332	GDAP1	OMIM:607831
HP:0003431	Decreased motor nerve conduction velocity	54332	GDAP1	OMIM:607706
HP:0003431	Decreased motor nerve conduction velocity	54332	GDAP1	OMIM:214400
HP:0003431	Decreased motor nerve conduction velocity	56704	JPH1	OMIM:607831
HP:0003431	Decreased motor nerve conduction velocity	23095	KIF1B	OMIM:118210
HP:0003431	Decreased motor nerve conduction velocity	6652	SORD	OMIM:618912
HP:0003431	Decreased motor nerve conduction velocity	65055	REEP1	OMIM:614751
HP:0003431	Decreased motor nerve conduction velocity	90678	LRSAM1	OMIM:614436
HP:0003431	Decreased motor nerve conduction velocity	3710	ITPR3	OMIM:620111
HP:0003431	Decreased motor nerve conduction velocity	81846	SBF2	OMIM:604563
HP:0003431	Decreased motor nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0003431	Decreased motor nerve conduction velocity	9516	LITAF	OMIM:601098
HP:0003431	Decreased motor nerve conduction velocity	26278	SACS	OMIM:270550
HP:0003431	Decreased motor nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0003431	Decreased motor nerve conduction velocity	5428	POLG	ORPHA:298
HP:0003431	Decreased motor nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0003431	Decreased motor nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0003431	Decreased motor nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0003431	Decreased motor nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0003431	Decreased motor nerve conduction velocity	10280	SIGMAR1	OMIM:605726
HP:0003431	Decreased motor nerve conduction velocity	23250	ATP11A	OMIM:619851
HP:0003431	Decreased motor nerve conduction velocity	23321	TRIM2	OMIM:615490
HP:0003431	Decreased motor nerve conduction velocity	57449	PLEKHG5	OMIM:615376
HP:0003431	Decreased motor nerve conduction velocity	81545	FBXO38	OMIM:615575
HP:0003431	Decreased motor nerve conduction velocity	5631	PRPS1	ORPHA:1187
HP:0003431	Decreased motor nerve conduction velocity	259232	NALCN	OMIM:615419
HP:0003431	Decreased motor nerve conduction velocity	26580	BSCL2	OMIM:270685
HP:0003431	Decreased motor nerve conduction velocity	3098	HK1	ORPHA:99953
HP:0003431	Decreased motor nerve conduction velocity	3098	HK1	OMIM:605285
HP:0003431	Decreased motor nerve conduction velocity	79628	SH3TC2	OMIM:601596
HP:0003431	Decreased motor nerve conduction velocity	79628	SH3TC2	ORPHA:99949
HP:0003431	Decreased motor nerve conduction velocity	10397	NDRG1	ORPHA:99950
HP:0003431	Decreased motor nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0003431	Decreased motor nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0003431	Decreased motor nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0003431	Decreased motor nerve conduction velocity	2705	GJB1	OMIM:302800
HP:0003431	Decreased motor nerve conduction velocity	9517	SPTLC2	OMIM:613640
HP:0003431	Decreased motor nerve conduction velocity	57716	PRX	OMIM:614895
HP:0003431	Decreased motor nerve conduction velocity	57716	PRX	OMIM:145900
HP:0003431	Decreased motor nerve conduction velocity	16	AARS1	OMIM:613287
HP:0003431	Decreased motor nerve conduction velocity	128637	TBC1D20	OMIM:615663
HP:0003431	Decreased motor nerve conduction velocity	55775	TDP1	OMIM:607250
HP:0003431	Decreased motor nerve conduction velocity	84668	HYCC1	OMIM:610532
HP:0003431	Decreased motor nerve conduction velocity	23064	SETX	OMIM:606002
HP:0003431	Decreased motor nerve conduction velocity	9896	FIG4	OMIM:611228
HP:0003431	Decreased motor nerve conduction velocity	6342	SCP2	OMIM:613724
HP:0003431	Decreased motor nerve conduction velocity	2395	FXN	ORPHA:95
HP:0003431	Decreased motor nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0003431	Decreased motor nerve conduction velocity	121512	FGD4	OMIM:609311
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:618184
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:118200
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:180800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:607677
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23769	FLRT1	ORPHA:320406
HP:0003380	Decreased number of peripheral myelinated nerve fibers	64837	KLC2	ORPHA:320406
HP:0003380	Decreased number of peripheral myelinated nerve fibers	91574	MTRFR	ORPHA:254930
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23321	TRIM2	OMIM:615490
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4358	MPV17	OMIM:256810
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:118220
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:180800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	50846	DHH	OMIM:607080
HP:0003380	Decreased number of peripheral myelinated nerve fibers	8139	GAN	OMIM:256850
HP:0003380	Decreased number of peripheral myelinated nerve fibers	7879	RAB7A	OMIM:600882
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10743	RAI1	ORPHA:477817
HP:0003380	Decreased number of peripheral myelinated nerve fibers	56704	JPH1	OMIM:607831
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54463	RETREG1	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	65125	WNK1	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	6335	SCN9A	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	547	KIF1A	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23095	KIF1B	OMIM:118210
HP:0003380	Decreased number of peripheral myelinated nerve fibers	2705	GJB1	OMIM:302800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	55775	TDP1	OMIM:607250
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23230	VPS13A	ORPHA:2388
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1786	DNMT1	OMIM:614116
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10342	TFG	OMIM:604484
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1959	EGR2	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	81846	SBF2	OMIM:604563
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1785	DNM2	OMIM:606482
HP:0003380	Decreased number of peripheral myelinated nerve fibers	121512	FGD4	OMIM:609311
HP:0003380	Decreased number of peripheral myelinated nerve fibers	80208	SPG11	OMIM:604360
HP:0003380	Decreased number of peripheral myelinated nerve fibers	79628	SH3TC2	OMIM:601596
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5428	POLG	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1890	TYMP	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	3980	LIG3	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	50484	RRM2B	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	8518	ELP1	OMIM:223900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10558	SPTLC1	OMIM:162400
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4311	MME	ORPHA:497764
HP:0003380	Decreased number of peripheral myelinated nerve fibers	87178	PNPT1	ORPHA:101111
HP:0003380	Decreased number of peripheral myelinated nerve fibers	9927	MFN2	OMIM:617087
HP:0003380	Decreased number of peripheral myelinated nerve fibers	57449	PLEKHG5	OMIM:615376
HP:0003380	Decreased number of peripheral myelinated nerve fibers	57716	PRX	OMIM:614895
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54332	GDAP1	ORPHA:99948
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54332	GDAP1	OMIM:608340
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54840	APTX	OMIM:208920
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4747	NEFL	ORPHA:101085
HP:0003380	Decreased number of peripheral myelinated nerve fibers	56652	TWNK	OMIM:271245
HP:0003380	Decreased number of peripheral myelinated nerve fibers	26353	HSPB8	OMIM:608673
HP:0003380	Decreased number of peripheral myelinated nerve fibers	26278	SACS	OMIM:270550
HP:0003380	Decreased number of peripheral myelinated nerve fibers	3098	HK1	OMIM:605285
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4803	NGF	ORPHA:64752
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4914	NTRK1	ORPHA:64752
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4914	NTRK1	OMIM:256800
HP:0011096	Peripheral demyelination	4535	MT-ND1	ORPHA:255210
HP:0011096	Peripheral demyelination	4536	MT-ND2	ORPHA:255210
HP:0011096	Peripheral demyelination	4537	MT-ND3	ORPHA:255210
HP:0011096	Peripheral demyelination	4538	MT-ND4	ORPHA:255210
HP:0011096	Peripheral demyelination	4567	MT-TL1	ORPHA:255210
HP:0011096	Peripheral demyelination	4578	MT-TW	ORPHA:255210
HP:0011096	Peripheral demyelination	4577	MT-TV	ORPHA:255210
HP:0011096	Peripheral demyelination	4508	MT-ATP6	ORPHA:255210
HP:0011096	Peripheral demyelination	4540	MT-ND5	ORPHA:255210
HP:0011096	Peripheral demyelination	4541	MT-ND6	ORPHA:255210
HP:0011096	Peripheral demyelination	4566	MT-TK	ORPHA:255210
HP:0011096	Peripheral demyelination	10397	NDRG1	OMIM:601455
HP:0011096	Peripheral demyelination	4747	NEFL	OMIM:607734
HP:0011096	Peripheral demyelination	5631	PRPS1	OMIM:311070
HP:0011096	Peripheral demyelination	81846	SBF2	OMIM:604563
HP:0011096	Peripheral demyelination	1785	DNM2	OMIM:606482
HP:0011096	Peripheral demyelination	9516	LITAF	OMIM:601098
HP:0011096	Peripheral demyelination	8729	GBF1	OMIM:606483
HP:0011096	Peripheral demyelination	2639	GCDH	OMIM:231670
HP:0011096	Peripheral demyelination	79628	SH3TC2	OMIM:601596
HP:0011096	Peripheral demyelination	4001	LMNB1	OMIM:169500
HP:0011096	Peripheral demyelination	10749	KIF1C	ORPHA:397946
HP:0011096	Peripheral demyelination	10128	LRPPRC	OMIM:220111
HP:0011096	Peripheral demyelination	4547	MTTP	OMIM:200100
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:118200
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:607736
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:145900
HP:0011096	Peripheral demyelination	6834	SURF1	OMIM:616684
HP:0011096	Peripheral demyelination	7343	UBTF	OMIM:617672
HP:0011096	Peripheral demyelination	6711	SPTBN1	OMIM:619475
HP:0011096	Peripheral demyelination	4337	MOCS1	OMIM:252150
HP:0011096	Peripheral demyelination	19	ABCA1	OMIM:205400
HP:0011096	Peripheral demyelination	25974	MMACHC	ORPHA:79282
HP:0011096	Peripheral demyelination	4143	MAT1A	OMIM:250850
HP:0011096	Peripheral demyelination	9639	ARHGEF10	OMIM:608236
HP:0011096	Peripheral demyelination	54332	GDAP1	ORPHA:101097
HP:0011096	Peripheral demyelination	54332	GDAP1	ORPHA:99944
HP:0011096	Peripheral demyelination	54332	GDAP1	OMIM:608340
HP:0011096	Peripheral demyelination	3098	HK1	ORPHA:99953
HP:0011096	Peripheral demyelination	285362	SUMF1	OMIM:272200
HP:0011096	Peripheral demyelination	5660	PSAP	OMIM:249900
HP:0011096	Peripheral demyelination	9150	CTDP1	OMIM:604168
HP:0011096	Peripheral demyelination	5354	PLP1	ORPHA:280234
HP:0011096	Peripheral demyelination	59345	GNB4	OMIM:615185
HP:0011096	Peripheral demyelination	5375	PMP2	OMIM:618279
HP:0011096	Peripheral demyelination	7305	TYROBP	OMIM:221770
HP:0011096	Peripheral demyelination	2581	GALC	OMIM:245200
HP:0011096	Peripheral demyelination	2581	GALC	ORPHA:206448
HP:0011096	Peripheral demyelination	10229	COQ7	OMIM:616733
HP:0011096	Peripheral demyelination	57716	PRX	OMIM:614895
HP:0011096	Peripheral demyelination	57716	PRX	OMIM:145900
HP:0011096	Peripheral demyelination	79152	FA2H	ORPHA:171629
HP:0011096	Peripheral demyelination	9409	PEX16	OMIM:614877
HP:0011096	Peripheral demyelination	4338	MOCS2	OMIM:252160
HP:0011096	Peripheral demyelination	5376	PMP22	OMIM:145900
HP:0011096	Peripheral demyelination	1959	EGR2	OMIM:145900
HP:0011096	Peripheral demyelination	6663	SOX10	OMIM:609136
HP:0011096	Peripheral demyelination	410	ARSA	OMIM:250100
HP:0011096	Peripheral demyelination	28982	FLVCR1	OMIM:609033
HP:0003382	Hypertrophic nerve changes	5376	PMP22	OMIM:118220
HP:0003382	Hypertrophic nerve changes	5376	PMP22	OMIM:145900
HP:0003382	Hypertrophic nerve changes	5376	PMP22	OMIM:180800
HP:0003382	Hypertrophic nerve changes	54332	GDAP1	OMIM:214400
HP:0003382	Hypertrophic nerve changes	4359	MPZ	OMIM:118200
HP:0003382	Hypertrophic nerve changes	4359	MPZ	OMIM:145900
HP:0003382	Hypertrophic nerve changes	4359	MPZ	OMIM:180800
HP:0003382	Hypertrophic nerve changes	1959	EGR2	OMIM:145900
HP:0003382	Hypertrophic nerve changes	57716	PRX	OMIM:145900
HP:0003382	Hypertrophic nerve changes	9516	LITAF	OMIM:601098
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:618184
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:118200
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:180800
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:145900
HP:0003383	Onion bulb formation	4000	LMNA	OMIM:605588
HP:0003383	Onion bulb formation	91574	MTRFR	OMIM:615035
HP:0003383	Onion bulb formation	91574	MTRFR	ORPHA:320375
HP:0003383	Onion bulb formation	5631	PRPS1	OMIM:311070
HP:0003383	Onion bulb formation	9927	MFN2	OMIM:609260
HP:0003383	Onion bulb formation	10939	AFG3L2	OMIM:614487
HP:0003383	Onion bulb formation	50717	DCAF8	OMIM:610100
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:118220
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:180800
HP:0003383	Onion bulb formation	5376	PMP22	ORPHA:98916
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:145900
HP:0003383	Onion bulb formation	9639	ARHGEF10	OMIM:608236
HP:0003383	Onion bulb formation	4747	NEFL	OMIM:607684
HP:0003383	Onion bulb formation	4747	NEFL	OMIM:607734
HP:0003383	Onion bulb formation	10397	NDRG1	OMIM:601455
HP:0003383	Onion bulb formation	6305	SBF1	OMIM:615284
HP:0003383	Onion bulb formation	59345	GNB4	OMIM:615185
HP:0003383	Onion bulb formation	5375	PMP2	OMIM:618279
HP:0003383	Onion bulb formation	23095	KIF1B	OMIM:118210
HP:0003383	Onion bulb formation	2705	GJB1	OMIM:302800
HP:0003383	Onion bulb formation	64423	INF2	OMIM:614455
HP:0003383	Onion bulb formation	1337	COX6A1	OMIM:616039
HP:0003383	Onion bulb formation	84668	HYCC1	OMIM:610532
HP:0003383	Onion bulb formation	1959	EGR2	OMIM:605253
HP:0003383	Onion bulb formation	1959	EGR2	OMIM:145900
HP:0003383	Onion bulb formation	9896	FIG4	OMIM:611228
HP:0003383	Onion bulb formation	81846	SBF2	OMIM:604563
HP:0003383	Onion bulb formation	8565	YARS1	OMIM:608323
HP:0003383	Onion bulb formation	1785	DNM2	OMIM:606482
HP:0003383	Onion bulb formation	9516	LITAF	OMIM:601098
HP:0003383	Onion bulb formation	121512	FGD4	OMIM:609311
HP:0003383	Onion bulb formation	26278	SACS	OMIM:270550
HP:0003383	Onion bulb formation	9990	SLC12A6	OMIM:218000
HP:0003383	Onion bulb formation	8729	GBF1	OMIM:606483
HP:0003383	Onion bulb formation	79628	SH3TC2	OMIM:601596
HP:0003383	Onion bulb formation	57716	PRX	OMIM:614895
HP:0003383	Onion bulb formation	54332	GDAP1	OMIM:214400
HP:0003384	Peripheral axonal atrophy	7879	RAB7A	OMIM:600882
HP:0003384	Peripheral axonal atrophy	9927	MFN2	OMIM:609260
HP:0003384	Peripheral axonal atrophy	4000	LMNA	OMIM:605588
HP:0003384	Peripheral axonal atrophy	23095	KIF1B	OMIM:118210
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	79628	SH3TC2	OMIM:601596
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	5428	POLG	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	1890	TYMP	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3980	LIG3	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	50484	RRM2B	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	8518	ELP1	OMIM:223900
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	10558	SPTLC1	OMIM:162400
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4311	MME	ORPHA:497764
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	87178	PNPT1	ORPHA:101111
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	9927	MFN2	OMIM:617087
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	57449	PLEKHG5	OMIM:615376
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	57716	PRX	OMIM:614895
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54332	GDAP1	ORPHA:99948
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54332	GDAP1	OMIM:608340
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54840	APTX	OMIM:208920
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4747	NEFL	ORPHA:101085
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	56652	TWNK	OMIM:271245
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	26353	HSPB8	OMIM:608673
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	26278	SACS	OMIM:270550
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3098	HK1	OMIM:605285
HP:0003388	Easy fatigability	291	SLC25A4	ORPHA:254892
HP:0003388	Easy fatigability	291	SLC25A4	OMIM:615418
HP:0003388	Easy fatigability	5428	POLG	ORPHA:254892
HP:0003388	Easy fatigability	5428	POLG	ORPHA:298
HP:0003388	Easy fatigability	56652	TWNK	ORPHA:254892
HP:0003388	Easy fatigability	11232	POLG2	ORPHA:254892
HP:0003388	Easy fatigability	50484	RRM2B	ORPHA:254892
HP:0003388	Easy fatigability	50484	RRM2B	ORPHA:298
HP:0003388	Easy fatigability	6261	RYR1	ORPHA:597
HP:0003388	Easy fatigability	6261	RYR1	ORPHA:424107
HP:0003388	Easy fatigability	5888	RAD51	ORPHA:238722
HP:0003388	Easy fatigability	10126	DNAL4	ORPHA:238722
HP:0003388	Easy fatigability	9423	NTN1	ORPHA:238722
HP:0003388	Easy fatigability	1630	DCC	ORPHA:238722
HP:0003388	Easy fatigability	10585	POMT1	OMIM:609308
HP:0003388	Easy fatigability	10585	POMT1	ORPHA:86812
HP:0003388	Easy fatigability	3939	LDHA	ORPHA:284426
HP:0003388	Easy fatigability	2673	GFPT1	OMIM:608931
HP:0003388	Easy fatigability	2673	GFPT1	OMIM:610542
HP:0003388	Easy fatigability	2673	GFPT1	ORPHA:353327
HP:0003388	Easy fatigability	1145	CHRNE	OMIM:608931
HP:0003388	Easy fatigability	1145	CHRNE	OMIM:616324
HP:0003388	Easy fatigability	1145	CHRNE	ORPHA:98913
HP:0003388	Easy fatigability	1145	CHRNE	OMIM:605809
HP:0003388	Easy fatigability	127833	SYT2	OMIM:616040
HP:0003388	Easy fatigability	127833	SYT2	ORPHA:98914
HP:0003388	Easy fatigability	127833	SYT2	OMIM:619461
HP:0003388	Easy fatigability	1144	CHRND	OMIM:616322
HP:0003388	Easy fatigability	1144	CHRND	OMIM:616321
HP:0003388	Easy fatigability	1144	CHRND	ORPHA:98913
HP:0003388	Easy fatigability	10367	MICU1	OMIM:615673
HP:0003388	Easy fatigability	6834	SURF1	OMIM:616684
HP:0003388	Easy fatigability	5913	RAPSN	OMIM:616326
HP:0003388	Easy fatigability	5913	RAPSN	ORPHA:98913
HP:0003388	Easy fatigability	8988	HSPB3	OMIM:613376
HP:0003388	Easy fatigability	4593	MUSK	OMIM:616325
HP:0003388	Easy fatigability	4593	MUSK	ORPHA:98913
HP:0003388	Easy fatigability	55280	CWF19L1	OMIM:616127
HP:0003388	Easy fatigability	79912	PYROXD1	OMIM:617258
HP:0003388	Easy fatigability	811	CALR	ORPHA:824
HP:0003388	Easy fatigability	4352	MPL	ORPHA:824
HP:0003388	Easy fatigability	3717	JAK2	ORPHA:824
HP:0003388	Easy fatigability	54790	TET2	ORPHA:824
HP:0003388	Easy fatigability	1134	CHRNA1	OMIM:608930
HP:0003388	Easy fatigability	1134	CHRNA1	ORPHA:98913
HP:0003388	Easy fatigability	4703	NEB	OMIM:256030
HP:0003388	Easy fatigability	92667	MGME1	ORPHA:352447
HP:0003388	Easy fatigability	92667	MGME1	OMIM:615084
HP:0003388	Easy fatigability	3190	HNRNPK	ORPHA:453504
HP:0003388	Easy fatigability	3190	HNRNPK	ORPHA:352665
HP:0003388	Easy fatigability	1785	DNM2	OMIM:160150
HP:0003388	Easy fatigability	64419	MTMR14	OMIM:160150
HP:0003388	Easy fatigability	6329	SCN4A	OMIM:614198
HP:0003388	Easy fatigability	6329	SCN4A	ORPHA:98913
HP:0003388	Easy fatigability	6576	SLC25A1	OMIM:618197
HP:0003388	Easy fatigability	6576	SLC25A1	ORPHA:98914
HP:0003388	Easy fatigability	375790	AGRN	OMIM:615120
HP:0003388	Easy fatigability	375790	AGRN	ORPHA:98914
HP:0003388	Easy fatigability	375790	AGRN	ORPHA:98913
HP:0003388	Easy fatigability	8838	CCN6	ORPHA:1159
HP:0003388	Easy fatigability	4780	NFE2L2	OMIM:617744
HP:0003388	Easy fatigability	4221	MEN1	ORPHA:2965
HP:0003388	Easy fatigability	64072	CDH23	ORPHA:2965
HP:0003388	Easy fatigability	64072	CDH23	ORPHA:91347
HP:0003388	Easy fatigability	9049	AIP	ORPHA:2965
HP:0003388	Easy fatigability	60482	SLC5A7	ORPHA:98914
HP:0003388	Easy fatigability	4649	MYO9A	ORPHA:98914
HP:0003388	Easy fatigability	1305	COL13A1	ORPHA:98914
HP:0003388	Easy fatigability	1305	COL13A1	ORPHA:98913
HP:0003388	Easy fatigability	1103	CHAT	ORPHA:98914
HP:0003388	Easy fatigability	6843	VAMP1	ORPHA:98914
HP:0003388	Easy fatigability	6572	SLC18A3	ORPHA:98914
HP:0003388	Easy fatigability	6572	SLC18A3	OMIM:617239
HP:0003388	Easy fatigability	6616	SNAP25	ORPHA:98914
HP:0003388	Easy fatigability	8292	COLQ	ORPHA:98915
HP:0003388	Easy fatigability	8292	COLQ	OMIM:603034
HP:0003388	Easy fatigability	3913	LAMB2	ORPHA:98915
HP:0003388	Easy fatigability	5573	PRKAR1A	ORPHA:615
HP:0003388	Easy fatigability	4038	LRP4	ORPHA:98913
HP:0003388	Easy fatigability	1140	CHRNB1	ORPHA:98913
HP:0003388	Easy fatigability	1140	CHRNB1	OMIM:616313
HP:0003388	Easy fatigability	221264	AK9	ORPHA:98913
HP:0003388	Easy fatigability	285489	DOK7	ORPHA:98913
HP:0003388	Easy fatigability	285489	DOK7	OMIM:254300
HP:0003388	Easy fatigability	7234	TRU-TCA1-1	OMIM:620198
HP:0003388	Easy fatigability	57104	PNPLA2	OMIM:610717
HP:0003388	Easy fatigability	57104	PNPLA2	ORPHA:98908
HP:0003388	Easy fatigability	29925	GMPPB	ORPHA:353327
HP:0003388	Easy fatigability	29925	GMPPB	ORPHA:363623
HP:0003388	Easy fatigability	1798	DPAGT1	ORPHA:353327
HP:0003388	Easy fatigability	85365	ALG2	ORPHA:353327
HP:0003388	Easy fatigability	199857	ALG14	ORPHA:353327
HP:0003388	Easy fatigability	1890	TYMP	ORPHA:298
HP:0003388	Easy fatigability	3980	LIG3	ORPHA:298
HP:0003388	Easy fatigability	50515	CHST11	OMIM:618167
HP:0003388	Easy fatigability	84665	MYPN	ORPHA:171881
HP:0003388	Easy fatigability	7169	TPM2	ORPHA:171881
HP:0003388	Easy fatigability	7169	TPM2	ORPHA:2020
HP:0003388	Easy fatigability	7170	TPM3	ORPHA:171881
HP:0003388	Easy fatigability	7170	TPM3	ORPHA:2020
HP:0003388	Easy fatigability	55033	FKBP14	ORPHA:300179
HP:0003388	Easy fatigability	79572	ATP13A3	OMIM:265400
HP:0003388	Easy fatigability	7040	TGFB1	OMIM:131300
HP:0003388	Easy fatigability	6389	SDHA	ORPHA:3208
HP:0003388	Easy fatigability	6390	SDHB	ORPHA:3208
HP:0003388	Easy fatigability	6392	SDHD	ORPHA:3208
HP:0003388	Easy fatigability	644096	SDHAF1	ORPHA:3208
HP:0003388	Easy fatigability	5213	PFKM	OMIM:232800
HP:0003388	Easy fatigability	51567	TDP2	OMIM:616949
HP:0003388	Easy fatigability	55750	AGK	OMIM:212350
HP:0003388	Easy fatigability	23479	ISCU	OMIM:255125
HP:0003388	Easy fatigability	55863	TMEM126B	OMIM:618250
HP:0003388	Easy fatigability	57190	SELENON	ORPHA:2020
HP:0003388	Easy fatigability	58	ACTA1	ORPHA:2020
HP:0003388	Easy fatigability	4633	MYL2	ORPHA:2020
HP:0003388	Easy fatigability	3679	ITGA7	ORPHA:2020
HP:0003388	Easy fatigability	9200	HACD1	ORPHA:2020
HP:0003388	Easy fatigability	51776	MAP3K20	ORPHA:2020
HP:0003388	Easy fatigability	51776	MAP3K20	OMIM:617760
HP:0003388	Easy fatigability	844	CASQ1	OMIM:616231
HP:0003388	Easy fatigability	79731	NARS2	OMIM:616239
HP:0003388	Easy fatigability	284439	SLC25A42	OMIM:618416
HP:0003388	Easy fatigability	9531	BAG3	OMIM:612954
HP:0003388	Easy fatigability	84705	GTPBP3	ORPHA:444013
HP:0003388	Easy fatigability	6786	STIM1	OMIM:160565
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	ORPHA:238329
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	OMIM:300614
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0003390	Sensory axonal neuropathy	23646	PLD3	OMIM:617770
HP:0003390	Sensory axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0003390	Sensory axonal neuropathy	3094	HINT1	OMIM:137200
HP:0003390	Sensory axonal neuropathy	23345	SYNE1	ORPHA:88644
HP:0003390	Sensory axonal neuropathy	25923	ATL3	OMIM:615632
HP:0003390	Sensory axonal neuropathy	22948	CCT5	ORPHA:139578
HP:0003390	Sensory axonal neuropathy	4744	NEFH	OMIM:616924
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:258450
HP:0003390	Sensory axonal neuropathy	5428	POLG	ORPHA:94125
HP:0003390	Sensory axonal neuropathy	5428	POLG	ORPHA:254886
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:157640
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:607459
HP:0003390	Sensory axonal neuropathy	64837	KLC2	OMIM:609541
HP:0003390	Sensory axonal neuropathy	2259	FGF14	ORPHA:98764
HP:0003390	Sensory axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0003390	Sensory axonal neuropathy	57165	GJC2	OMIM:608804
HP:0003390	Sensory axonal neuropathy	7084	TK2	ORPHA:254886
HP:0003390	Sensory axonal neuropathy	3074	HEXB	ORPHA:309169
HP:0003390	Sensory axonal neuropathy	6472	SHMT2	OMIM:619121
HP:0003390	Sensory axonal neuropathy	63895	PIEZO2	OMIM:617146
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:616138
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:271245
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:609286
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:607459
HP:0003390	Sensory axonal neuropathy	22880	MORC2	ORPHA:466768
HP:0003390	Sensory axonal neuropathy	219285	SAMD9L	OMIM:619806
HP:0003390	Sensory axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	7415	VCP	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	51	ACOX1	OMIM:618960
HP:0003390	Sensory axonal neuropathy	116228	COX20	OMIM:619054
HP:0003390	Sensory axonal neuropathy	7518	XRCC4	OMIM:616541
HP:0003390	Sensory axonal neuropathy	1716	DGUOK	ORPHA:329314
HP:0003390	Sensory axonal neuropathy	1509	CTSD	OMIM:610127
HP:0003390	Sensory axonal neuropathy	823	CAPN1	OMIM:616907
HP:0003390	Sensory axonal neuropathy	8139	GAN	OMIM:256850
HP:0003390	Sensory axonal neuropathy	23400	ATP13A2	ORPHA:513436
HP:0003390	Sensory axonal neuropathy	8449	DHX16	OMIM:618733
HP:0003390	Sensory axonal neuropathy	144165	PRICKLE1	OMIM:612437
HP:0003390	Sensory axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0003390	Sensory axonal neuropathy	2395	FXN	ORPHA:95
HP:0003390	Sensory axonal neuropathy	9927	MFN2	ORPHA:99947
HP:0003390	Sensory axonal neuropathy	4976	OPA1	OMIM:210000
HP:0003391	Gowers sign	58	ACTA1	ORPHA:97240
HP:0003391	Gowers sign	58	ACTA1	ORPHA:97244
HP:0003391	Gowers sign	6445	SGCG	ORPHA:353
HP:0003391	Gowers sign	6445	SGCG	OMIM:253700
HP:0003391	Gowers sign	274	BIN1	ORPHA:169186
HP:0003391	Gowers sign	274	BIN1	OMIM:255200
HP:0003391	Gowers sign	10290	SPEG	ORPHA:169186
HP:0003391	Gowers sign	6261	RYR1	ORPHA:169186
HP:0003391	Gowers sign	7273	TTN	ORPHA:169186
HP:0003391	Gowers sign	57190	SELENON	ORPHA:97244
HP:0003391	Gowers sign	23299	BICD2	ORPHA:363454
HP:0003391	Gowers sign	23299	BICD2	OMIM:615290
HP:0003391	Gowers sign	2673	GFPT1	OMIM:608931
HP:0003391	Gowers sign	2673	GFPT1	OMIM:610542
HP:0003391	Gowers sign	2673	GFPT1	ORPHA:353327
HP:0003391	Gowers sign	1145	CHRNE	OMIM:608931
HP:0003391	Gowers sign	91452	ACBD5	OMIM:618863
HP:0003391	Gowers sign	1763	DNA2	OMIM:615156
HP:0003391	Gowers sign	1763	DNA2	ORPHA:352470
HP:0003391	Gowers sign	10367	MICU1	OMIM:615673
HP:0003391	Gowers sign	5913	RAPSN	OMIM:616326
HP:0003391	Gowers sign	4593	MUSK	OMIM:616325
HP:0003391	Gowers sign	84665	MYPN	OMIM:617336
HP:0003391	Gowers sign	84665	MYPN	ORPHA:171881
HP:0003391	Gowers sign	60684	TRAPPC11	OMIM:615356
HP:0003391	Gowers sign	859	CAV3	OMIM:606072
HP:0003391	Gowers sign	79912	PYROXD1	OMIM:617258
HP:0003391	Gowers sign	1756	DMD	OMIM:310200
HP:0003391	Gowers sign	203547	VMA21	OMIM:310440
HP:0003391	Gowers sign	1134	CHRNA1	OMIM:608930
HP:0003391	Gowers sign	23345	SYNE1	ORPHA:319332
HP:0003391	Gowers sign	23345	SYNE1	OMIM:618484
HP:0003391	Gowers sign	6442	SGCA	ORPHA:62
HP:0003391	Gowers sign	6442	SGCA	OMIM:608099
HP:0003391	Gowers sign	1605	DAG1	OMIM:613818
HP:0003391	Gowers sign	1605	DAG1	ORPHA:280333
HP:0003391	Gowers sign	10049	DNAJB6	OMIM:603511
HP:0003391	Gowers sign	5339	PLEC	ORPHA:254361
HP:0003391	Gowers sign	5339	PLEC	OMIM:613723
HP:0003391	Gowers sign	1120	CHKB	OMIM:602541
HP:0003391	Gowers sign	84197	POMK	OMIM:616094
HP:0003391	Gowers sign	10585	POMT1	ORPHA:86812
HP:0003391	Gowers sign	79048	SECISBP2	ORPHA:171706
HP:0003391	Gowers sign	9200	HACD1	OMIM:619967
HP:0003391	Gowers sign	6901	TAFAZZIN	OMIM:302060
HP:0003391	Gowers sign	54344	DPM3	OMIM:612937
HP:0003391	Gowers sign	1303	COL12A1	ORPHA:610
HP:0003391	Gowers sign	1291	COL6A1	ORPHA:610
HP:0003391	Gowers sign	1292	COL6A2	ORPHA:610
HP:0003391	Gowers sign	1293	COL6A3	ORPHA:610
HP:0003391	Gowers sign	57104	PNPLA2	OMIM:610717
HP:0003391	Gowers sign	57104	PNPLA2	ORPHA:98908
HP:0003391	Gowers sign	29925	GMPPB	ORPHA:353327
HP:0003391	Gowers sign	1798	DPAGT1	ORPHA:353327
HP:0003391	Gowers sign	85365	ALG2	ORPHA:353327
HP:0003391	Gowers sign	85365	ALG2	OMIM:616228
HP:0003391	Gowers sign	199857	ALG14	ORPHA:353327
HP:0003391	Gowers sign	427	ASAH1	OMIM:159950
HP:0003391	Gowers sign	6444	SGCD	OMIM:601287
HP:0003391	Gowers sign	7169	TPM2	ORPHA:171881
HP:0003391	Gowers sign	7169	TPM2	OMIM:609285
HP:0003391	Gowers sign	7170	TPM3	ORPHA:171881
HP:0003391	Gowers sign	146862	UNC45B	OMIM:619178
HP:0003391	Gowers sign	84876	ORAI1	OMIM:612782
HP:0003391	Gowers sign	22954	TRIM32	OMIM:254110
HP:0003391	Gowers sign	7084	TK2	OMIM:609560
HP:0003391	Gowers sign	55624	POMGNT1	OMIM:613157
HP:0003391	Gowers sign	267010	RNU12	OMIM:620208
HP:0003391	Gowers sign	1073	CFL2	OMIM:610687
HP:0003391	Gowers sign	2218	FKTN	OMIM:611615
HP:0003391	Gowers sign	2218	FKTN	OMIM:611588
HP:0003391	Gowers sign	80324	PUS1	OMIM:600462
HP:0003391	Gowers sign	112812	FDX2	OMIM:251900
HP:0003391	Gowers sign	84892	POMGNT2	OMIM:618135
HP:0003391	Gowers sign	4747	NEFL	OMIM:617882
HP:0003391	Gowers sign	51763	INPP5K	OMIM:617404
HP:0003391	Gowers sign	529	ATP6V1E1	OMIM:617402
HP:0003391	Gowers sign	3679	ITGA7	OMIM:613204
HP:0003391	Gowers sign	3908	LAMA2	OMIM:618138
HP:0003391	Gowers sign	55154	MSTO1	ORPHA:502423
HP:0003391	Gowers sign	6443	SGCB	ORPHA:119
HP:0003391	Gowers sign	50640	PNPLA8	OMIM:251950
HP:0003391	Gowers sign	246329	STAC3	OMIM:255995
HP:0003391	Gowers sign	59341	TRPV4	OMIM:181405
HP:0003391	Gowers sign	285489	DOK7	OMIM:254300
HP:0003391	Gowers sign	2628	GATM	OMIM:612718
HP:0003392	First dorsal interossei muscle weakness	2617	GARS1	OMIM:600794
HP:0003392	First dorsal interossei muscle weakness	2617	GARS1	ORPHA:139536
HP:0003392	First dorsal interossei muscle weakness	2617	GARS1	OMIM:601472
HP:0003392	First dorsal interossei muscle weakness	26580	BSCL2	ORPHA:139536
HP:0003392	First dorsal interossei muscle weakness	26580	BSCL2	OMIM:270685
HP:0003392	First dorsal interossei muscle weakness	65055	REEP1	ORPHA:139536
HP:0003392	First dorsal interossei muscle weakness	773	CACNA1A	ORPHA:569
HP:0003392	First dorsal interossei muscle weakness	112476	PRRT2	ORPHA:569
HP:0003392	First dorsal interossei muscle weakness	6323	SCN1A	ORPHA:569
HP:0003392	First dorsal interossei muscle weakness	477	ATP1A2	ORPHA:569
HP:0003392	First dorsal interossei muscle weakness	182	JAG1	OMIM:619574
HP:0003393	Thenar muscle atrophy	2617	GARS1	OMIM:600794
HP:0003393	Thenar muscle atrophy	2617	GARS1	ORPHA:139536
HP:0003393	Thenar muscle atrophy	2617	GARS1	OMIM:601472
HP:0003393	Thenar muscle atrophy	1311	COMP	OMIM:619161
HP:0003393	Thenar muscle atrophy	91252	SLC39A13	ORPHA:157965
HP:0003393	Thenar muscle atrophy	91252	SLC39A13	OMIM:612350
HP:0003393	Thenar muscle atrophy	5376	PMP22	OMIM:118300
HP:0003393	Thenar muscle atrophy	8985	PLOD3	OMIM:612394
HP:0003393	Thenar muscle atrophy	26580	BSCL2	OMIM:619112
HP:0003393	Thenar muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0003393	Thenar muscle atrophy	26580	BSCL2	OMIM:270685
HP:0003393	Thenar muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0003393	Thenar muscle atrophy	5165	PDK3	ORPHA:352675
HP:0003393	Thenar muscle atrophy	65055	REEP1	OMIM:614751
HP:0003393	Thenar muscle atrophy	65055	REEP1	ORPHA:139536
HP:0003393	Thenar muscle atrophy	4703	NEB	OMIM:256030
HP:0003393	Thenar muscle atrophy	3710	ITPR3	OMIM:620111
HP:0003393	Thenar muscle atrophy	3425	IDUA	OMIM:607015
HP:0003393	Thenar muscle atrophy	80208	SPG11	OMIM:604360
HP:0003393	Thenar muscle atrophy	8729	GBF1	OMIM:606483
HP:0003394	Muscle spasm	291	SLC25A4	ORPHA:254892
HP:0003394	Muscle spasm	5428	POLG	ORPHA:254892
HP:0003394	Muscle spasm	56652	TWNK	ORPHA:254892
HP:0003394	Muscle spasm	11232	POLG2	ORPHA:254892
HP:0003394	Muscle spasm	50484	RRM2B	ORPHA:254892
HP:0003394	Muscle spasm	2673	GFPT1	OMIM:608931
HP:0003394	Muscle spasm	2673	GFPT1	ORPHA:353327
HP:0003394	Muscle spasm	2673	GFPT1	OMIM:610542
HP:0003394	Muscle spasm	1145	CHRNE	OMIM:608931
HP:0003394	Muscle spasm	4287	ATXN3	OMIM:109150
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276238
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276244
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276241
HP:0003394	Muscle spasm	9897	WASHC5	ORPHA:100989
HP:0003394	Muscle spasm	80207	OPA3	ORPHA:67036
HP:0003394	Muscle spasm	54517	PUS7	OMIM:618342
HP:0003394	Muscle spasm	22880	MORC2	OMIM:616688
HP:0003394	Muscle spasm	22880	MORC2	ORPHA:466768
HP:0003394	Muscle spasm	60684	TRAPPC11	OMIM:615356
HP:0003394	Muscle spasm	60684	TRAPPC11	ORPHA:369840
HP:0003394	Muscle spasm	3703	STT3A	OMIM:619714
HP:0003394	Muscle spasm	55733	HHAT	OMIM:600092
HP:0003394	Muscle spasm	3315	HSPB1	OMIM:606595
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:94089
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:79443
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:79444
HP:0003394	Muscle spasm	8675	STX16	ORPHA:94089
HP:0003394	Muscle spasm	6840	SVIL	OMIM:619040
HP:0003394	Muscle spasm	2767	GNA11	OMIM:615361
HP:0003394	Muscle spasm	3074	HEXB	ORPHA:309169
HP:0003394	Muscle spasm	1763	DNA2	ORPHA:352470
HP:0003394	Muscle spasm	1763	DNA2	OMIM:615156
HP:0003394	Muscle spasm	3939	LDHA	OMIM:612933
HP:0003394	Muscle spasm	3736	KCNA1	ORPHA:37612
HP:0003394	Muscle spasm	54822	TRPM7	OMIM:105500
HP:0003394	Muscle spasm	1586	CYP17A1	ORPHA:90793
HP:0003394	Muscle spasm	79147	FKRP	OMIM:607155
HP:0003394	Muscle spasm	79147	FKRP	OMIM:606612
HP:0003394	Muscle spasm	79147	FKRP	ORPHA:370980
HP:0003394	Muscle spasm	29925	GMPPB	ORPHA:353327
HP:0003394	Muscle spasm	29925	GMPPB	ORPHA:363623
HP:0003394	Muscle spasm	1798	DPAGT1	ORPHA:353327
HP:0003394	Muscle spasm	85365	ALG2	ORPHA:353327
HP:0003394	Muscle spasm	199857	ALG14	ORPHA:353327
HP:0003394	Muscle spasm	140803	TRPM6	OMIM:602014
HP:0003394	Muscle spasm	1738	DLD	ORPHA:2394
HP:0003394	Muscle spasm	28982	FLVCR1	ORPHA:88628
HP:0003394	Muscle spasm	84340	GFM2	ORPHA:565624
HP:0003394	Muscle spasm	1716	DGUOK	ORPHA:329314
HP:0003394	Muscle spasm	2629	GBA1	ORPHA:411602
HP:0003394	Muscle spasm	23317	DNAJC13	ORPHA:411602
HP:0003394	Muscle spasm	1981	EIF4G1	ORPHA:411602
HP:0003394	Muscle spasm	55737	VPS35	ORPHA:411602
HP:0003394	Muscle spasm	120892	LRRK2	ORPHA:411602
HP:0003394	Muscle spasm	120892	LRRK2	ORPHA:2828
HP:0003394	Muscle spasm	26058	GIGYF2	ORPHA:411602
HP:0003394	Muscle spasm	6622	SNCA	ORPHA:411602
HP:0003394	Muscle spasm	6622	SNCA	ORPHA:2828
HP:0003394	Muscle spasm	5257	PHKB	ORPHA:79240
HP:0003394	Muscle spasm	29967	LRP12	OMIM:164310
HP:0003394	Muscle spasm	1277	COL1A1	ORPHA:287
HP:0003394	Muscle spasm	1289	COL5A1	ORPHA:287
HP:0003394	Muscle spasm	1290	COL5A2	ORPHA:287
HP:0003394	Muscle spasm	9217	VAPB	OMIM:608627
HP:0003394	Muscle spasm	9217	VAPB	ORPHA:803
HP:0003394	Muscle spasm	9217	VAPB	OMIM:182980
HP:0003394	Muscle spasm	2632	GBE1	OMIM:263570
HP:0003394	Muscle spasm	112812	FDX2	OMIM:251900
HP:0003394	Muscle spasm	6557	SLC12A1	OMIM:601678
HP:0003394	Muscle spasm	3758	KCNJ1	OMIM:241200
HP:0003394	Muscle spasm	146206	CARMIL2	OMIM:618131
HP:0003394	Muscle spasm	844	CASQ1	OMIM:616231
HP:0003394	Muscle spasm	844	CASQ1	ORPHA:2593
HP:0003394	Muscle spasm	54872	PIGG	ORPHA:488635
HP:0003394	Muscle spasm	246243	RNASEH1	OMIM:616479
HP:0003394	Muscle spasm	10058	ABCB6	OMIM:609153
HP:0003394	Muscle spasm	54832	VPS13C	ORPHA:2828
HP:0003394	Muscle spasm	11315	PARK7	ORPHA:2828
HP:0003394	Muscle spasm	7345	UCHL1	ORPHA:2828
HP:0003394	Muscle spasm	27429	HTRA2	ORPHA:2828
HP:0003394	Muscle spasm	9829	DNAJC6	ORPHA:2828
HP:0003394	Muscle spasm	5420	PODXL	ORPHA:2828
HP:0003394	Muscle spasm	65018	PINK1	ORPHA:2828
HP:0003394	Muscle spasm	8867	SYNJ1	ORPHA:2828
HP:0003394	Muscle spasm	5071	PRKN	ORPHA:2828
HP:0003394	Muscle spasm	2218	FKTN	ORPHA:370980
HP:0003394	Muscle spasm	729920	CRPPA	ORPHA:370980
HP:0003394	Muscle spasm	10585	POMT1	ORPHA:370980
HP:0003394	Muscle spasm	5230	PGK1	ORPHA:713
HP:0003394	Muscle spasm	4747	NEFL	ORPHA:101085
HP:0003394	Muscle spasm	1756	DMD	ORPHA:98895
HP:0003394	Muscle spasm	1756	DMD	ORPHA:206546
HP:0003394	Muscle spasm	4625	MYH7	ORPHA:437572
HP:0003394	Muscle spasm	10367	MICU1	OMIM:615673
HP:0003394	Muscle spasm	7415	VCP	ORPHA:435387
HP:0003394	Muscle spasm	7415	VCP	ORPHA:329478
HP:0003394	Muscle spasm	7415	VCP	ORPHA:803
HP:0003394	Muscle spasm	57863	CADM3	OMIM:619519
HP:0003394	Muscle spasm	1282	COL4A1	ORPHA:73229
HP:0003394	Muscle spasm	1282	COL4A1	OMIM:611773
HP:0003394	Muscle spasm	6329	SCN4A	ORPHA:99735
HP:0003394	Muscle spasm	6329	SCN4A	ORPHA:99736
HP:0003394	Muscle spasm	3032	HADHB	ORPHA:746
HP:0003394	Muscle spasm	3030	HADHA	ORPHA:746
HP:0003394	Muscle spasm	3030	HADHA	OMIM:609015
HP:0003394	Muscle spasm	8659	ALDH4A1	ORPHA:79101
HP:0003394	Muscle spasm	100134444	KCNJ18	ORPHA:79102
HP:0003394	Muscle spasm	2556	GABRA3	ORPHA:79102
HP:0003394	Muscle spasm	779	CACNA1S	ORPHA:79102
HP:0003394	Muscle spasm	6606	SMN1	OMIM:253400
HP:0003394	Muscle spasm	6607	SMN2	OMIM:253400
HP:0003394	Muscle spasm	476	ATP1A1	OMIM:618036
HP:0003394	Muscle spasm	400916	CHCHD10	OMIM:615048
HP:0003394	Muscle spasm	400916	CHCHD10	ORPHA:803
HP:0003394	Muscle spasm	23175	LPIN1	ORPHA:99845
HP:0003394	Muscle spasm	4512	MT-CO1	ORPHA:99845
HP:0003394	Muscle spasm	4514	MT-CO3	ORPHA:99845
HP:0003394	Muscle spasm	6311	ATXN2	ORPHA:98756
HP:0003394	Muscle spasm	6311	ATXN2	ORPHA:803
HP:0003394	Muscle spasm	10342	TFG	OMIM:604484
HP:0003394	Muscle spasm	270	AMPD1	ORPHA:45
HP:0003394	Muscle spasm	272	AMPD3	ORPHA:45
HP:0003394	Muscle spasm	3094	HINT1	OMIM:137200
HP:0003394	Muscle spasm	34	ACADM	ORPHA:42
HP:0003394	Muscle spasm	2717	GLA	OMIM:301500
HP:0003394	Muscle spasm	339855	KY	ORPHA:496689
HP:0003394	Muscle spasm	859	CAV3	OMIM:123320
HP:0003394	Muscle spasm	81545	FBXO38	OMIM:615575
HP:0003394	Muscle spasm	1376	CPT2	ORPHA:228302
HP:0003394	Muscle spasm	1376	CPT2	OMIM:255110
HP:0003394	Muscle spasm	84876	ORAI1	ORPHA:2593
HP:0003394	Muscle spasm	6786	STIM1	ORPHA:2593
HP:0003394	Muscle spasm	6786	STIM1	OMIM:160565
HP:0003394	Muscle spasm	25978	CHMP2B	ORPHA:803
HP:0003394	Muscle spasm	3178	HNRNPA1	ORPHA:803
HP:0003394	Muscle spasm	8148	TAF15	ORPHA:803
HP:0003394	Muscle spasm	5445	PON2	ORPHA:803
HP:0003394	Muscle spasm	8878	SQSTM1	ORPHA:803
HP:0003394	Muscle spasm	5630	PRPH	ORPHA:803
HP:0003394	Muscle spasm	5630	PRPH	OMIM:105400
HP:0003394	Muscle spasm	29110	TBK1	ORPHA:803
HP:0003394	Muscle spasm	55830	GLT8D1	ORPHA:803
HP:0003394	Muscle spasm	755	CFAP410	ORPHA:803
HP:0003394	Muscle spasm	10891	PPARGC1A	ORPHA:803
HP:0003394	Muscle spasm	6647	SOD1	ORPHA:803
HP:0003394	Muscle spasm	6647	SOD1	OMIM:105400
HP:0003394	Muscle spasm	10133	OPTN	ORPHA:803
HP:0003394	Muscle spasm	1639	DCTN1	ORPHA:803
HP:0003394	Muscle spasm	1639	DCTN1	OMIM:105400
HP:0003394	Muscle spasm	9896	FIG4	ORPHA:803
HP:0003394	Muscle spasm	5444	PON1	ORPHA:803
HP:0003394	Muscle spasm	5446	PON3	ORPHA:803
HP:0003394	Muscle spasm	4744	NEFH	ORPHA:803
HP:0003394	Muscle spasm	4744	NEFH	OMIM:105400
HP:0003394	Muscle spasm	5216	PFN1	ORPHA:803
HP:0003394	Muscle spasm	9782	MATR3	ORPHA:803
HP:0003394	Muscle spasm	54209	TREM2	ORPHA:803
HP:0003394	Muscle spasm	283	ANG	ORPHA:803
HP:0003394	Muscle spasm	23435	TARDBP	ORPHA:803
HP:0003394	Muscle spasm	29978	UBQLN2	ORPHA:803
HP:0003394	Muscle spasm	2733	GLE1	ORPHA:803
HP:0003394	Muscle spasm	2521	FUS	ORPHA:803
HP:0003394	Muscle spasm	4750	NEK1	ORPHA:803
HP:0003394	Muscle spasm	2043	EPHA4	ORPHA:803
HP:0003394	Muscle spasm	1610	DAO	ORPHA:803
HP:0003394	Muscle spasm	2066	ERBB4	ORPHA:803
HP:0003394	Muscle spasm	311	ANXA11	ORPHA:803
HP:0003394	Muscle spasm	23025	UNC13A	ORPHA:803
HP:0003394	Muscle spasm	899	CCNF	ORPHA:803
HP:0003394	Muscle spasm	4508	MT-ATP6	ORPHA:644
HP:0003394	Muscle spasm	23479	ISCU	OMIM:255125
HP:0003394	Muscle spasm	84188	FAR1	ORPHA:447753
HP:0003394	Muscle spasm	5832	ALDH18A1	ORPHA:447753
HP:0003394	Muscle spasm	37	ACADVL	ORPHA:26793
HP:0003394	Muscle spasm	6253	RTN2	ORPHA:100993
HP:0003394	Muscle spasm	51271	UBAP1	ORPHA:100993
HP:0003394	Muscle spasm	846	CASR	OMIM:601198
HP:0003394	Muscle spasm	3839	KPNA3	ORPHA:171612
HP:0003394	Muscle spasm	84842	HPDL	OMIM:619027
HP:0003394	Muscle spasm	51776	MAP3K20	OMIM:617760
HP:0003394	Muscle spasm	5256	PHKA2	ORPHA:264580
HP:0003394	Muscle spasm	5261	PHKG2	ORPHA:264580
HP:0003394	Muscle spasm	79628	SH3TC2	ORPHA:99949
HP:0003394	Muscle spasm	6559	SLC12A3	OMIM:263800
HP:0003394	Muscle spasm	6559	SLC12A3	ORPHA:358
HP:0003394	Muscle spasm	367	AR	OMIM:313200
HP:0003394	Muscle spasm	9927	MFN2	ORPHA:99947
HP:0003394	Muscle spasm	1188	CLCNKB	ORPHA:358
HP:0003394	Muscle spasm	6310	ATXN1	OMIM:164400
HP:0003394	Muscle spasm	285489	DOK7	OMIM:254300
HP:0003394	Muscle spasm	8729	GBF1	OMIM:606483
HP:0003394	Muscle spasm	2617	GARS1	OMIM:600794
HP:0003394	Muscle spasm	2617	GARS1	ORPHA:139536
HP:0003394	Muscle spasm	2617	GARS1	OMIM:601472
HP:0003394	Muscle spasm	26580	BSCL2	ORPHA:139536
HP:0003394	Muscle spasm	65055	REEP1	ORPHA:139536
HP:0003394	Muscle spasm	5376	PMP22	OMIM:118220
HP:0003394	Muscle spasm	4359	MPZ	OMIM:118200
HP:0003394	Muscle spasm	487	ATP2A1	OMIM:601003
HP:0003394	Muscle spasm	6566	SLC16A1	OMIM:245340
HP:0003394	Muscle spasm	3920	LAMP2	OMIM:300257
HP:0003394	Muscle spasm	5224	PGAM2	OMIM:261670
HP:0003394	Muscle spasm	5213	PFKM	OMIM:232800
HP:0003394	Muscle spasm	3908	LAMA2	OMIM:618138
HP:0003394	Muscle spasm	5837	PYGM	OMIM:232600
HP:0003394	Muscle spasm	5837	PYGM	ORPHA:368
HP:0003394	Muscle spasm	90523	MLIP	OMIM:620138
HP:0003394	Muscle spasm	5836	PYGL	ORPHA:369
HP:0003394	Muscle spasm	6261	RYR1	ORPHA:423
HP:0003396	Syringomyelia	4921	DDR2	OMIM:271665
HP:0003396	Syringomyelia	2294	FOXF1	OMIM:265380
HP:0003396	Syringomyelia	3590	IL11RA	OMIM:614188
HP:0003396	Syringomyelia	23259	DDHD2	OMIM:615033
HP:0003396	Syringomyelia	95	ACY1	ORPHA:137754
HP:0003396	Syringomyelia	4774	NFIA	OMIM:613735
HP:0003396	Syringomyelia	23028	KDM1A	OMIM:616728
HP:0003396	Syringomyelia	25839	COG4	OMIM:618150
HP:0003396	Syringomyelia	10743	RAI1	ORPHA:477817
HP:0003396	Syringomyelia	1387	CREBBP	ORPHA:353281
HP:0003396	Syringomyelia	1387	CREBBP	ORPHA:353277
HP:0003396	Syringomyelia	4854	NOTCH3	OMIM:130720
HP:0003396	Syringomyelia	4854	NOTCH3	ORPHA:2789
HP:0003396	Syringomyelia	92002	CCNQ	ORPHA:140952
HP:0003396	Syringomyelia	2033	EP300	ORPHA:353284
HP:0003396	Syringomyelia	10978	CLP1	OMIM:615803
HP:0003396	Syringomyelia	19	ABCA1	ORPHA:31150
HP:0003396	Syringomyelia	2192	FBLN1	ORPHA:404451
HP:0003396	Syringomyelia	3190	HNRNPK	OMIM:616580
HP:0003396	Syringomyelia	22943	DKK1	ORPHA:268882
HP:0003396	Syringomyelia	6678	SPARC	OMIM:616507
HP:0003396	Syringomyelia	9939	RBM8A	OMIM:274000
HP:0003396	Syringomyelia	2131	EXT1	ORPHA:321
HP:0003396	Syringomyelia	2132	EXT2	ORPHA:321
HP:0003396	Syringomyelia	8091	HMGA2	ORPHA:94063
HP:0003396	Syringomyelia	23592	LEMD3	ORPHA:94063
HP:0003396	Syringomyelia	860	RUNX2	OMIM:119600
HP:0003396	Syringomyelia	25970	SH2B1	ORPHA:261197
HP:0003396	Syringomyelia	4893	NRAS	OMIM:249400
HP:0003396	Syringomyelia	29072	SETD2	OMIM:616831
HP:0003396	Syringomyelia	80199	FUZ	ORPHA:1136
HP:0003396	Syringomyelia	4853	NOTCH2	ORPHA:955
HP:0003396	Syringomyelia	6911	TBX6	OMIM:122600
HP:0003396	Syringomyelia	1499	CTNNB1	ORPHA:404473
HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1103	CHAT	OMIM:254210
HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1145	CHRNE	OMIM:605809
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	8292	COLQ	ORPHA:98915
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	3913	LAMB2	ORPHA:98915
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1134	CHRNA1	OMIM:601462
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5339	PLEC	ORPHA:257
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	34	ACADM	ORPHA:42
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2673	GFPT1	OMIM:608931
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2673	GFPT1	OMIM:610542
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2673	GFPT1	ORPHA:353327
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1145	CHRNE	OMIM:608931
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1145	CHRNE	OMIM:605809
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1144	CHRND	OMIM:616322
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	199857	ALG14	OMIM:616227
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	199857	ALG14	ORPHA:353327
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1103	CHAT	OMIM:254210
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1103	CHAT	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4593	MUSK	OMIM:616325
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	85365	ALG2	OMIM:616228
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	85365	ALG2	ORPHA:353327
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	844	CASQ1	ORPHA:2593
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	84876	ORAI1	ORPHA:2593
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6786	STIM1	ORPHA:2593
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2767	GNA11	ORPHA:428
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	846	CASR	ORPHA:428
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6261	RYR1	ORPHA:424107
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	60482	SLC5A7	OMIM:617143
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	60482	SLC5A7	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10568	SLC34A2	ORPHA:60025
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6329	SCN4A	OMIM:614198
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6576	SLC25A1	OMIM:618197
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6576	SLC25A1	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6616	SNAP25	OMIM:616330
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6616	SNAP25	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1140	CHRNB1	OMIM:616313
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1798	DPAGT1	OMIM:614750
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1798	DPAGT1	ORPHA:353327
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4649	MYO9A	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1305	COL13A1	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6843	VAMP1	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	375790	AGRN	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	127833	SYT2	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6572	SLC18A3	ORPHA:98914
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	28976	ACAD9	ORPHA:99901
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	285489	DOK7	OMIM:254300
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	29925	GMPPB	ORPHA:353327
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	390594	KBTBD13	ORPHA:171439
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	57190	SELENON	ORPHA:2020
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4633	MYL2	ORPHA:2020
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	3679	ITGA7	ORPHA:2020
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9200	HACD1	ORPHA:2020
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	51776	MAP3K20	ORPHA:2020
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10755	GIPC1	ORPHA:98897
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	100996717	NOTCH2NLC	ORPHA:98897
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	55768	NGLY1	ORPHA:404454
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4534	MTM1	ORPHA:596
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	22943	DKK1	ORPHA:268882
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	84334	COA8	ORPHA:436271
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	23175	LPIN1	ORPHA:99845
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4512	MT-CO1	ORPHA:99845
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4514	MT-CO3	ORPHA:99845
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	50484	RRM2B	ORPHA:329336
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	246243	RNASEH1	ORPHA:329336
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1674	DES	ORPHA:98909
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	779	CACNA1S	ORPHA:681
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10008	KCNE3	ORPHA:681
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	25978	CHMP2B	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	3178	HNRNPA1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	8148	TAF15	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5445	PON2	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9217	VAPB	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	8878	SQSTM1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5630	PRPH	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	29110	TBK1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	55830	GLT8D1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	755	CFAP410	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10891	PPARGC1A	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6647	SOD1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10133	OPTN	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1639	DCTN1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9896	FIG4	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5444	PON1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5446	PON3	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4744	NEFH	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5216	PFN1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9782	MATR3	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	54209	TREM2	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	7415	VCP	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	283	ANG	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	23435	TARDBP	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	29978	UBQLN2	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2733	GLE1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2521	FUS	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4750	NEK1	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2043	EPHA4	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	6311	ATXN2	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1610	DAO	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2066	ERBB4	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	311	ANXA11	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	23025	UNC13A	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	899	CCNF	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	400916	CHCHD10	ORPHA:803
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	79147	FKRP	ORPHA:370968
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	29954	POMT2	ORPHA:370968
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	29954	POMT2	ORPHA:206559
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9215	LARGE1	ORPHA:370968
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10585	POMT1	ORPHA:370968
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	114034	TOE1	ORPHA:284339
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9562	MINPP1	ORPHA:284339
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	11155	LDB3	ORPHA:98912
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	3094	HINT1	ORPHA:324442
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4038	LRP4	ORPHA:98913
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	5913	RAPSN	ORPHA:98913
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	221264	AK9	ORPHA:98913
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	51305	KCNK9	ORPHA:166108
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10342	TFG	ORPHA:90117
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2318	FLNC	ORPHA:63273
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	84196	USP48	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	7157	TP53	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	9101	USP8	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	64072	CDH23	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	2908	NR3C1	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	673	BRAF	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	546	ATRX	ORPHA:96253
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	58	ACTA1	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	7169	TPM2	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	7169	TPM2	ORPHA:171881
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	4703	NEB	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	10324	KLHL41	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	56203	LMOD3	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	1073	CFL2	ORPHA:171436
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	23345	SYNE1	ORPHA:319332
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	84665	MYPN	ORPHA:171881
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	7170	TPM3	ORPHA:171881
HP:0003473	Fatigable weakness	1134	CHRNA1	OMIM:601462
HP:0003473	Fatigable weakness	5339	PLEC	ORPHA:257
HP:0003473	Fatigable weakness	34	ACADM	ORPHA:42
HP:0003473	Fatigable weakness	2673	GFPT1	OMIM:608931
HP:0003473	Fatigable weakness	2673	GFPT1	OMIM:610542
HP:0003473	Fatigable weakness	2673	GFPT1	ORPHA:353327
HP:0003473	Fatigable weakness	1145	CHRNE	OMIM:608931
HP:0003473	Fatigable weakness	1145	CHRNE	OMIM:605809
HP:0003473	Fatigable weakness	1144	CHRND	OMIM:616322
HP:0003473	Fatigable weakness	199857	ALG14	OMIM:616227
HP:0003473	Fatigable weakness	199857	ALG14	ORPHA:353327
HP:0003473	Fatigable weakness	1103	CHAT	OMIM:254210
HP:0003473	Fatigable weakness	1103	CHAT	ORPHA:98914
HP:0003473	Fatigable weakness	4593	MUSK	OMIM:616325
HP:0003473	Fatigable weakness	85365	ALG2	OMIM:616228
HP:0003473	Fatigable weakness	85365	ALG2	ORPHA:353327
HP:0003473	Fatigable weakness	844	CASQ1	ORPHA:2593
HP:0003473	Fatigable weakness	84876	ORAI1	ORPHA:2593
HP:0003473	Fatigable weakness	6786	STIM1	ORPHA:2593
HP:0003473	Fatigable weakness	2767	GNA11	ORPHA:428
HP:0003473	Fatigable weakness	846	CASR	ORPHA:428
HP:0003473	Fatigable weakness	6261	RYR1	ORPHA:424107
HP:0003473	Fatigable weakness	60482	SLC5A7	OMIM:617143
HP:0003473	Fatigable weakness	60482	SLC5A7	ORPHA:98914
HP:0003473	Fatigable weakness	10568	SLC34A2	ORPHA:60025
HP:0003473	Fatigable weakness	6329	SCN4A	OMIM:614198
HP:0003473	Fatigable weakness	6576	SLC25A1	OMIM:618197
HP:0003473	Fatigable weakness	6576	SLC25A1	ORPHA:98914
HP:0003473	Fatigable weakness	6616	SNAP25	OMIM:616330
HP:0003473	Fatigable weakness	6616	SNAP25	ORPHA:98914
HP:0003473	Fatigable weakness	1140	CHRNB1	OMIM:616313
HP:0003473	Fatigable weakness	1798	DPAGT1	OMIM:614750
HP:0003473	Fatigable weakness	1798	DPAGT1	ORPHA:353327
HP:0003473	Fatigable weakness	4649	MYO9A	ORPHA:98914
HP:0003473	Fatigable weakness	1305	COL13A1	ORPHA:98914
HP:0003473	Fatigable weakness	6843	VAMP1	ORPHA:98914
HP:0003473	Fatigable weakness	375790	AGRN	ORPHA:98914
HP:0003473	Fatigable weakness	127833	SYT2	ORPHA:98914
HP:0003473	Fatigable weakness	6572	SLC18A3	ORPHA:98914
HP:0003473	Fatigable weakness	28976	ACAD9	ORPHA:99901
HP:0003473	Fatigable weakness	8292	COLQ	OMIM:603034
HP:0003473	Fatigable weakness	285489	DOK7	OMIM:254300
HP:0003473	Fatigable weakness	29925	GMPPB	ORPHA:353327
HP:0003473	Fatigable weakness	390594	KBTBD13	ORPHA:171439
HP:0003473	Fatigable weakness	57190	SELENON	ORPHA:2020
HP:0003473	Fatigable weakness	4633	MYL2	ORPHA:2020
HP:0003473	Fatigable weakness	3679	ITGA7	ORPHA:2020
HP:0003473	Fatigable weakness	9200	HACD1	ORPHA:2020
HP:0003473	Fatigable weakness	51776	MAP3K20	ORPHA:2020
HP:0003473	Fatigable weakness	10755	GIPC1	ORPHA:98897
HP:0003473	Fatigable weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003473	Fatigable weakness	55768	NGLY1	ORPHA:404454
HP:0003473	Fatigable weakness	4534	MTM1	ORPHA:596
HP:0003473	Fatigable weakness	22943	DKK1	ORPHA:268882
HP:0003473	Fatigable weakness	84334	COA8	ORPHA:436271
HP:0003473	Fatigable weakness	23175	LPIN1	ORPHA:99845
HP:0003473	Fatigable weakness	4512	MT-CO1	ORPHA:99845
HP:0003473	Fatigable weakness	4514	MT-CO3	ORPHA:99845
HP:0003473	Fatigable weakness	50484	RRM2B	ORPHA:329336
HP:0003473	Fatigable weakness	246243	RNASEH1	ORPHA:329336
HP:0003473	Fatigable weakness	1674	DES	ORPHA:98909
HP:0003473	Fatigable weakness	779	CACNA1S	ORPHA:681
HP:0003473	Fatigable weakness	10008	KCNE3	ORPHA:681
HP:0003473	Fatigable weakness	25978	CHMP2B	ORPHA:803
HP:0003473	Fatigable weakness	3178	HNRNPA1	ORPHA:803
HP:0003473	Fatigable weakness	8148	TAF15	ORPHA:803
HP:0003473	Fatigable weakness	5445	PON2	ORPHA:803
HP:0003473	Fatigable weakness	9217	VAPB	ORPHA:803
HP:0003473	Fatigable weakness	8878	SQSTM1	ORPHA:803
HP:0003473	Fatigable weakness	5630	PRPH	ORPHA:803
HP:0003473	Fatigable weakness	29110	TBK1	ORPHA:803
HP:0003473	Fatigable weakness	55830	GLT8D1	ORPHA:803
HP:0003473	Fatigable weakness	755	CFAP410	ORPHA:803
HP:0003473	Fatigable weakness	10891	PPARGC1A	ORPHA:803
HP:0003473	Fatigable weakness	6647	SOD1	ORPHA:803
HP:0003473	Fatigable weakness	10133	OPTN	ORPHA:803
HP:0003473	Fatigable weakness	1639	DCTN1	ORPHA:803
HP:0003473	Fatigable weakness	9896	FIG4	ORPHA:803
HP:0003473	Fatigable weakness	5444	PON1	ORPHA:803
HP:0003473	Fatigable weakness	5446	PON3	ORPHA:803
HP:0003473	Fatigable weakness	4744	NEFH	ORPHA:803
HP:0003473	Fatigable weakness	5216	PFN1	ORPHA:803
HP:0003473	Fatigable weakness	9782	MATR3	ORPHA:803
HP:0003473	Fatigable weakness	54209	TREM2	ORPHA:803
HP:0003473	Fatigable weakness	7415	VCP	ORPHA:803
HP:0003473	Fatigable weakness	283	ANG	ORPHA:803
HP:0003473	Fatigable weakness	23435	TARDBP	ORPHA:803
HP:0003473	Fatigable weakness	29978	UBQLN2	ORPHA:803
HP:0003473	Fatigable weakness	2733	GLE1	ORPHA:803
HP:0003473	Fatigable weakness	2521	FUS	ORPHA:803
HP:0003473	Fatigable weakness	4750	NEK1	ORPHA:803
HP:0003473	Fatigable weakness	2043	EPHA4	ORPHA:803
HP:0003473	Fatigable weakness	6311	ATXN2	ORPHA:803
HP:0003473	Fatigable weakness	1610	DAO	ORPHA:803
HP:0003473	Fatigable weakness	2066	ERBB4	ORPHA:803
HP:0003473	Fatigable weakness	311	ANXA11	ORPHA:803
HP:0003473	Fatigable weakness	23025	UNC13A	ORPHA:803
HP:0003473	Fatigable weakness	899	CCNF	ORPHA:803
HP:0003473	Fatigable weakness	400916	CHCHD10	ORPHA:803
HP:0003473	Fatigable weakness	79147	FKRP	ORPHA:370968
HP:0003473	Fatigable weakness	29954	POMT2	ORPHA:370968
HP:0003473	Fatigable weakness	29954	POMT2	ORPHA:206559
HP:0003473	Fatigable weakness	9215	LARGE1	ORPHA:370968
HP:0003473	Fatigable weakness	10585	POMT1	ORPHA:370968
HP:0003473	Fatigable weakness	114034	TOE1	ORPHA:284339
HP:0003473	Fatigable weakness	9562	MINPP1	ORPHA:284339
HP:0003473	Fatigable weakness	11155	LDB3	ORPHA:98912
HP:0003473	Fatigable weakness	3094	HINT1	ORPHA:324442
HP:0003473	Fatigable weakness	4038	LRP4	ORPHA:98913
HP:0003473	Fatigable weakness	5913	RAPSN	ORPHA:98913
HP:0003473	Fatigable weakness	221264	AK9	ORPHA:98913
HP:0003473	Fatigable weakness	51305	KCNK9	ORPHA:166108
HP:0003473	Fatigable weakness	10342	TFG	ORPHA:90117
HP:0003473	Fatigable weakness	2318	FLNC	ORPHA:63273
HP:0003473	Fatigable weakness	84196	USP48	ORPHA:96253
HP:0003473	Fatigable weakness	7157	TP53	ORPHA:96253
HP:0003473	Fatigable weakness	9101	USP8	ORPHA:96253
HP:0003473	Fatigable weakness	64072	CDH23	ORPHA:96253
HP:0003473	Fatigable weakness	2908	NR3C1	ORPHA:96253
HP:0003473	Fatigable weakness	673	BRAF	ORPHA:96253
HP:0003473	Fatigable weakness	546	ATRX	ORPHA:96253
HP:0003473	Fatigable weakness	58	ACTA1	ORPHA:171436
HP:0003473	Fatigable weakness	7169	TPM2	ORPHA:171436
HP:0003473	Fatigable weakness	7169	TPM2	ORPHA:171881
HP:0003473	Fatigable weakness	4703	NEB	ORPHA:171436
HP:0003473	Fatigable weakness	10324	KLHL41	ORPHA:171436
HP:0003473	Fatigable weakness	56203	LMOD3	ORPHA:171436
HP:0003473	Fatigable weakness	1073	CFL2	ORPHA:171436
HP:0003473	Fatigable weakness	23345	SYNE1	ORPHA:319332
HP:0003473	Fatigable weakness	84665	MYPN	ORPHA:171881
HP:0003473	Fatigable weakness	7170	TPM3	ORPHA:171881
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	11151	CORO1A	OMIM:615401
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	10525	HYOU1	OMIM:233600
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	841	CASP8	OMIM:607271
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	8517	IKBKG	OMIM:301081
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	115650	TNFRSF13C	OMIM:613494
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	54440	SASH3	OMIM:301082
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	23495	TNFRSF13B	OMIM:240500
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	115650	TNFRSF13C	OMIM:240500
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	1380	CR2	OMIM:240500
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	29851	ICOS	OMIM:240500
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	930	CD19	OMIM:240500
HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	695	BTK	OMIM:300755
HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	5880	RAC2	OMIM:618986
HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	54440	SASH3	OMIM:301082
HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	79087	ALG12	ORPHA:79324
HP:0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	695	BTK	OMIM:300755
HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	5880	RAC2	OMIM:618986
HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	54440	SASH3	OMIM:301082
HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	79087	ALG12	ORPHA:79324
HP:0410309	Alpha-aminoadipic aciduria	55526	DHTKD1	OMIM:204750
HP:0410309	Alpha-aminoadipic aciduria	27247	NFU1	OMIM:605711
HP:0410309	Alpha-aminoadipic aciduria	3954	LETM1	OMIM:620089
HP:0410310	Abnormality of neutrophil morphology in CSF	1053	CEBPE	OMIM:245480
HP:0410323	Drug allergy	5238	PGM3	OMIM:615816
HP:0410323	Drug allergy	10526	IPO8	OMIM:619472
HP:0410327	Dairy allergy	9939	RBM8A	OMIM:274000
HP:0410327	Dairy allergy	54914	FOCAD	OMIM:619991
HP:0410346	Increased urinary galactosylated oligosaccharide	2720	GLB1	ORPHA:79255
HP:0410362	Decreased O-mannosyl glycans on alpha-dystroglycan	8818	DPM2	OMIM:615042
HP:0410373	Abnormal proportion of naive CD4 T cells	50485	SMARCAL1	ORPHA:1830
HP:0410373	Abnormal proportion of naive CD4 T cells	5295	PIK3R1	OMIM:616005
HP:0410373	Abnormal proportion of naive CD4 T cells	64919	BCL11B	OMIM:617237
HP:0410373	Abnormal proportion of naive CD4 T cells	54440	SASH3	OMIM:301082
HP:0410377	Decreased proportion of naive CD8 T cells	50485	SMARCAL1	ORPHA:1830
HP:0410377	Decreased proportion of naive CD8 T cells	5295	PIK3R1	OMIM:616005
HP:0410377	Decreased proportion of naive CD8 T cells	54440	SASH3	OMIM:301082
HP:0410378	Decreased proportion of naive CD4 T cells	5295	PIK3R1	OMIM:616005
HP:0410378	Decreased proportion of naive CD4 T cells	64919	BCL11B	OMIM:617237
HP:0410378	Decreased proportion of naive CD4 T cells	54440	SASH3	OMIM:301082
HP:0000900	Thickened ribs	4125	MAN2B1	ORPHA:309282
HP:0000900	Thickened ribs	3423	IDS	ORPHA:217085
HP:0000900	Thickened ribs	3423	IDS	ORPHA:217093
HP:0000900	Thickened ribs	2720	GLB1	OMIM:230500
HP:0000900	Thickened ribs	6448	SGSH	OMIM:252900
HP:0000900	Thickened ribs	138050	HGSNAT	OMIM:252930
HP:0000900	Thickened ribs	4669	NAGLU	OMIM:252920
HP:0000900	Thickened ribs	2799	GNS	OMIM:252940
HP:0000900	Thickened ribs	50964	SOST	OMIM:122860
HP:0005815	Supernumerary ribs	2627	GATA6	OMIM:600001
HP:0005815	Supernumerary ribs	2627	GATA6	ORPHA:2255
HP:0005815	Supernumerary ribs	22827	PUF60	ORPHA:508488
HP:0005815	Supernumerary ribs	860	RUNX2	OMIM:119600
HP:0005815	Supernumerary ribs	5159	PDGFRB	OMIM:601812
HP:0005815	Supernumerary ribs	29123	ANKRD11	OMIM:148050
HP:0005815	Supernumerary ribs	29123	ANKRD11	ORPHA:2332
HP:0005815	Supernumerary ribs	6651	SON	OMIM:617140
HP:0005815	Supernumerary ribs	6651	SON	ORPHA:500150
HP:0005815	Supernumerary ribs	3899	AFF3	OMIM:619297
HP:0005815	Supernumerary ribs	2719	GPC3	OMIM:312870
HP:0005815	Supernumerary ribs	2239	GPC4	OMIM:312870
HP:0005815	Supernumerary ribs	9939	RBM8A	ORPHA:3320
HP:0005815	Supernumerary ribs	9939	RBM8A	OMIM:274000
HP:0005815	Supernumerary ribs	10992	SF3B2	OMIM:164210
HP:0005815	Supernumerary ribs	55081	IFT57	OMIM:617927
HP:0005815	Supernumerary ribs	8517	IKBKG	ORPHA:464
HP:0005815	Supernumerary ribs	8517	IKBKG	OMIM:308300
HP:0005815	Supernumerary ribs	6497	SKI	OMIM:182212
HP:0005815	Supernumerary ribs	4094	MAF	ORPHA:1272
HP:0005815	Supernumerary ribs	5077	PAX3	OMIM:193500
HP:0005815	Supernumerary ribs	10651	MTX2	OMIM:619127
HP:0005815	Supernumerary ribs	10220	GDF11	OMIM:619122
HP:0005815	Supernumerary ribs	25836	NIPBL	OMIM:122470
HP:0005815	Supernumerary ribs	60	ACTB	ORPHA:64755
HP:0005815	Supernumerary ribs	4990	SIX6	OMIM:206900
HP:0005815	Supernumerary ribs	6657	SOX2	OMIM:206900
HP:0005815	Supernumerary ribs	286	ANK1	ORPHA:251066
HP:0005815	Supernumerary ribs	6231	RPS26	OMIM:613309
HP:0005815	Supernumerary ribs	6911	TBX6	OMIM:122600
HP:0005815	Supernumerary ribs	5727	PTCH1	OMIM:109400
HP:0000902	Rib fusion	2737	GLI3	ORPHA:672
HP:0000902	Rib fusion	2737	GLI3	OMIM:146510
HP:0000902	Rib fusion	4920	ROR2	OMIM:268310
HP:0000902	Rib fusion	4920	ROR2	ORPHA:1507
HP:0000902	Rib fusion	1146	CHRNG	OMIM:265000
HP:0000902	Rib fusion	1146	CHRNG	ORPHA:2990
HP:0000902	Rib fusion	6651	SON	ORPHA:500150
HP:0000902	Rib fusion	6651	SON	OMIM:617140
HP:0000902	Rib fusion	134701	RIPPLY2	ORPHA:2311
HP:0000902	Rib fusion	10683	DLL3	ORPHA:2311
HP:0000902	Rib fusion	10683	DLL3	OMIM:277300
HP:0000902	Rib fusion	3955	LFNG	ORPHA:2311
HP:0000902	Rib fusion	3955	LFNG	OMIM:609813
HP:0000902	Rib fusion	84667	HES7	ORPHA:2311
HP:0000902	Rib fusion	84667	HES7	OMIM:613686
HP:0000902	Rib fusion	145873	MESP2	ORPHA:2311
HP:0000902	Rib fusion	145873	MESP2	OMIM:277300
HP:0000902	Rib fusion	145873	MESP2	OMIM:608681
HP:0000902	Rib fusion	60	ACTB	ORPHA:64755
HP:0000902	Rib fusion	64359	NXN	ORPHA:1507
HP:0000902	Rib fusion	5590	PRKCZ	ORPHA:1606
HP:0000902	Rib fusion	2563	GABRD	ORPHA:1606
HP:0000902	Rib fusion	23013	SPEN	ORPHA:1606
HP:0000902	Rib fusion	8510	MMP23B	ORPHA:1606
HP:0000902	Rib fusion	7798	LUZP1	ORPHA:1606
HP:0000902	Rib fusion	6497	SKI	ORPHA:1606
HP:0000902	Rib fusion	10630	PDPN	ORPHA:1606
HP:0000902	Rib fusion	3339	HSPG2	ORPHA:1606
HP:0000902	Rib fusion	10277	UBE4B	ORPHA:1606
HP:0000902	Rib fusion	8514	KCNAB2	ORPHA:1606
HP:0000902	Rib fusion	473	RERE	ORPHA:1606
HP:0000902	Rib fusion	63976	PRDM16	ORPHA:1606
HP:0000902	Rib fusion	54897	CASZ1	ORPHA:1606
HP:0000902	Rib fusion	4621	MYH3	ORPHA:2990
HP:0000902	Rib fusion	54499	TMCO1	OMIM:213980
HP:0000902	Rib fusion	54499	TMCO1	ORPHA:1394
HP:0000902	Rib fusion	9401	RECQL4	OMIM:218600
HP:0000902	Rib fusion	10815	CPLX1	ORPHA:280
HP:0000902	Rib fusion	10815	CPLX1	OMIM:194190
HP:0000902	Rib fusion	54872	PIGG	ORPHA:280
HP:0000902	Rib fusion	7469	NELFA	ORPHA:280
HP:0000902	Rib fusion	1487	CTBP1	ORPHA:280
HP:0000902	Rib fusion	1487	CTBP1	OMIM:194190
HP:0000902	Rib fusion	3954	LETM1	ORPHA:280
HP:0000902	Rib fusion	3954	LETM1	OMIM:194190
HP:0000902	Rib fusion	7468	NSD2	ORPHA:280
HP:0000902	Rib fusion	7468	NSD2	OMIM:194190
HP:0000902	Rib fusion	25970	SH2B1	ORPHA:261197
HP:0000902	Rib fusion	29123	ANKRD11	OMIM:148050
HP:0000902	Rib fusion	6885	MAP3K7	OMIM:157800
HP:0000902	Rib fusion	4953	ODC1	ORPHA:544488
HP:0000902	Rib fusion	53834	FGFRL1	OMIM:194190
HP:0000902	Rib fusion	4990	SIX6	OMIM:206900
HP:0000902	Rib fusion	6657	SOX2	OMIM:206900
HP:0000902	Rib fusion	9382	COG1	OMIM:611209
HP:0000902	Rib fusion	9382	COG1	ORPHA:263508
HP:0000902	Rib fusion	6911	TBX6	ORPHA:1797
HP:0000902	Rib fusion	6911	TBX6	OMIM:122600
HP:0000902	Rib fusion	2294	FOXF1	OMIM:265380
HP:0000885	Broad ribs	139285	AMER1	OMIM:300373
HP:0000885	Broad ribs	50964	SOST	OMIM:269500
HP:0000885	Broad ribs	9791	PTDSS1	OMIM:151050
HP:0000885	Broad ribs	7030	TFE3	OMIM:301066
HP:0000885	Broad ribs	7476	WNT7A	OMIM:276820
HP:0000885	Broad ribs	538	ATP7A	OMIM:304150
HP:0000885	Broad ribs	64131	XYLT1	ORPHA:370930
HP:0000885	Broad ribs	411	ARSB	OMIM:253200
HP:0000885	Broad ribs	5745	PTH1R	OMIM:600002
HP:0000885	Broad ribs	2200	FBN1	OMIM:608328
HP:0000885	Broad ribs	91754	NEK9	OMIM:617022
HP:0000885	Broad ribs	4089	SMAD4	OMIM:139210
HP:0000885	Broad ribs	79639	TMEM53	OMIM:619727
HP:0000885	Broad ribs	3557	IL1RN	OMIM:612852
HP:0000885	Broad ribs	1301	COL11A1	ORPHA:2021
HP:0000885	Broad ribs	1302	COL11A2	ORPHA:2021
HP:0000885	Broad ribs	79158	GNPTAB	OMIM:252600
HP:0000885	Broad ribs	26040	SETBP1	OMIM:269150
HP:0000885	Broad ribs	26040	SETBP1	ORPHA:798
HP:0000885	Broad ribs	3764	KCNJ8	ORPHA:1517
HP:0000885	Broad ribs	10060	ABCC9	ORPHA:1517
HP:0000885	Broad ribs	871	SERPINH1	OMIM:613848
HP:0000885	Broad ribs	54808	DYM	ORPHA:239
HP:0000885	Broad ribs	81794	ADAMTS10	OMIM:277600
HP:0000885	Broad ribs	1311	COMP	OMIM:177170
HP:0000885	Broad ribs	153642	ARSK	OMIM:619698
HP:0000885	Broad ribs	2720	GLB1	ORPHA:79255
HP:0000904	Flaring of rib cage	2720	GLB1	OMIM:253010
HP:0000904	Flaring of rib cage	2588	GALNS	OMIM:253000
HP:0000904	Flaring of rib cage	59341	TRPV4	OMIM:156530
HP:0000904	Flaring of rib cage	3557	IL1RN	OMIM:612852
HP:0000904	Flaring of rib cage	9321	TRIP11	OMIM:200600
HP:0000904	Flaring of rib cage	126792	B3GALT6	OMIM:271640
HP:0000904	Flaring of rib cage	54808	DYM	OMIM:223800
HP:0000904	Flaring of rib cage	6023	RMRP	OMIM:250250
HP:0000904	Flaring of rib cage	6023	RMRP	ORPHA:175
HP:0000905	Progressive clavicular acroosteolysis	4000	LMNA	ORPHA:740
HP:0000905	Progressive clavicular acroosteolysis	4000	LMNA	OMIM:248370
HP:0000905	Progressive clavicular acroosteolysis	4000	LMNA	ORPHA:79474
HP:0000905	Progressive clavicular acroosteolysis	10269	ZMPSTE24	ORPHA:740
HP:0000905	Progressive clavicular acroosteolysis	10269	ZMPSTE24	OMIM:608612
HP:0000905	Progressive clavicular acroosteolysis	8815	BANF1	OMIM:614008
HP:0000882	Hypoplastic scapulae	54808	DYM	OMIM:223800
HP:0000882	Hypoplastic scapulae	54808	DYM	OMIM:607326
HP:0000882	Hypoplastic scapulae	9321	TRIP11	OMIM:200600
HP:0000882	Hypoplastic scapulae	340419	RSPO2	OMIM:618022
HP:0000882	Hypoplastic scapulae	50814	NSDHL	OMIM:308050
HP:0000882	Hypoplastic scapulae	2260	FGFR1	OMIM:166250
HP:0000882	Hypoplastic scapulae	1280	COL2A1	ORPHA:85166
HP:0000882	Hypoplastic scapulae	3636	INPPL1	ORPHA:3144
HP:0000882	Hypoplastic scapulae	23169	SLC35D1	ORPHA:3144
HP:0000882	Hypoplastic scapulae	23169	SLC35D1	OMIM:269250
HP:0000882	Hypoplastic scapulae	6913	TBX15	ORPHA:93333
HP:0000882	Hypoplastic scapulae	6913	TBX15	OMIM:260660
HP:0000882	Hypoplastic scapulae	145258	GSC	OMIM:602471
HP:0000882	Hypoplastic scapulae	5447	POR	ORPHA:95699
HP:0000882	Hypoplastic scapulae	9896	FIG4	OMIM:216340
HP:0000882	Hypoplastic scapulae	60	ACTB	ORPHA:79107
HP:0000882	Hypoplastic scapulae	60	ACTB	OMIM:607371
HP:0000882	Hypoplastic scapulae	57539	WDR35	OMIM:614091
HP:0000882	Hypoplastic scapulae	6926	TBX3	OMIM:181450
HP:0000882	Hypoplastic scapulae	860	RUNX2	OMIM:119600
HP:0000882	Hypoplastic scapulae	860	RUNX2	ORPHA:1452
HP:0000882	Hypoplastic scapulae	91179	SCARF2	OMIM:600920
HP:0000882	Hypoplastic scapulae	1301	COL11A1	OMIM:228520
HP:0000882	Hypoplastic scapulae	1301	COL11A1	ORPHA:2021
HP:0000882	Hypoplastic scapulae	1301	COL11A1	ORPHA:440354
HP:0000882	Hypoplastic scapulae	54101	RIPK4	OMIM:263650
HP:0000882	Hypoplastic scapulae	2316	FLNA	OMIM:309350
HP:0000882	Hypoplastic scapulae	6662	SOX9	OMIM:114290
HP:0000882	Hypoplastic scapulae	5116	PCNT	OMIM:210720
HP:0000882	Hypoplastic scapulae	1302	COL11A2	ORPHA:2021
HP:0000882	Hypoplastic scapulae	5696	PSMB8	OMIM:256040
HP:0000882	Hypoplastic scapulae	388015	RTL1	ORPHA:96334
HP:0000882	Hypoplastic scapulae	8788	DLK1	ORPHA:96334
HP:0000882	Hypoplastic scapulae	55384	MEG3	ORPHA:96334
HP:0000882	Hypoplastic scapulae	79158	GNPTAB	OMIM:252500
HP:0000882	Hypoplastic scapulae	2261	FGFR3	OMIM:187601
HP:0000882	Hypoplastic scapulae	2261	FGFR3	OMIM:187600
HP:0000907	Anterior rib cupping	4921	DDR2	OMIM:271665
HP:0000907	Anterior rib cupping	1300	COL10A1	ORPHA:174
HP:0000907	Anterior rib cupping	9131	AIFM1	OMIM:300232
HP:0000907	Anterior rib cupping	3636	INPPL1	OMIM:258480
HP:0000907	Anterior rib cupping	1280	COL2A1	OMIM:184250
HP:0000907	Anterior rib cupping	1301	COL11A1	OMIM:228520
HP:0000907	Anterior rib cupping	51119	SBDS	OMIM:260400
HP:0000907	Anterior rib cupping	134218	DNAJC21	OMIM:260400
HP:0000907	Anterior rib cupping	6729	SRP54	OMIM:260400
HP:0000907	Anterior rib cupping	100	ADA	OMIM:102700
HP:0000907	Anterior rib cupping	79631	EFL1	OMIM:617941
HP:0000907	Anterior rib cupping	755	CFAP410	OMIM:602271
HP:0000907	Anterior rib cupping	23169	SLC35D1	OMIM:269250
HP:0000907	Anterior rib cupping	388015	RTL1	ORPHA:96334
HP:0000907	Anterior rib cupping	8788	DLK1	ORPHA:96334
HP:0000907	Anterior rib cupping	55384	MEG3	ORPHA:96334
HP:0000773	Short ribs	2261	FGFR3	OMIM:187601
HP:0000773	Short ribs	2261	FGFR3	OMIM:187600
HP:0000773	Short ribs	2261	FGFR3	OMIM:100800
HP:0000773	Short ribs	4921	DDR2	OMIM:271665
HP:0000773	Short ribs	64840	PORCN	OMIM:305600
HP:0000773	Short ribs	64840	PORCN	ORPHA:2092
HP:0000773	Short ribs	65992	DDRGK1	OMIM:602557
HP:0000773	Short ribs	79659	DYNC2H1	OMIM:613091
HP:0000773	Short ribs	79659	DYNC2H1	ORPHA:93271
HP:0000773	Short ribs	1836	SLC26A2	OMIM:600972
HP:0000773	Short ribs	1836	SLC26A2	ORPHA:56304
HP:0000773	Short ribs	1280	COL2A1	OMIM:151210
HP:0000773	Short ribs	1280	COL2A1	ORPHA:93296
HP:0000773	Short ribs	1280	COL2A1	OMIM:200610
HP:0000773	Short ribs	28981	IFT81	OMIM:617895
HP:0000773	Short ribs	579	NKX3-2	OMIM:613330
HP:0000773	Short ribs	4750	NEK1	OMIM:263520
HP:0000773	Short ribs	55503	TRPV6	OMIM:618188
HP:0000773	Short ribs	26160	IFT172	OMIM:615630
HP:0000773	Short ribs	79848	CSPP1	OMIM:615636
HP:0000773	Short ribs	79848	CSPP1	ORPHA:397715
HP:0000773	Short ribs	57539	WDR35	OMIM:613610
HP:0000773	Short ribs	57539	WDR35	ORPHA:93271
HP:0000773	Short ribs	57539	WDR35	OMIM:614091
HP:0000773	Short ribs	6608	SMO	OMIM:241800
HP:0000773	Short ribs	3636	INPPL1	ORPHA:3144
HP:0000773	Short ribs	23169	SLC35D1	ORPHA:3144
HP:0000773	Short ribs	23169	SLC35D1	OMIM:269250
HP:0000773	Short ribs	5745	PTH1R	OMIM:215045
HP:0000773	Short ribs	5745	PTH1R	OMIM:156400
HP:0000773	Short ribs	5745	PTH1R	ORPHA:50945
HP:0000773	Short ribs	9786	KIAA0586	ORPHA:397715
HP:0000773	Short ribs	9786	KIAA0586	OMIM:616546
HP:0000773	Short ribs	59341	TRPV4	OMIM:156530
HP:0000773	Short ribs	267010	RNU12	OMIM:603116
HP:0000773	Short ribs	55112	DYNC2I1	ORPHA:93271
HP:0000773	Short ribs	55112	DYNC2I1	OMIM:615503
HP:0000773	Short ribs	57560	IFT80	ORPHA:93271
HP:0000773	Short ribs	89891	DYNC2I2	ORPHA:93271
HP:0000773	Short ribs	249	ALPL	OMIM:241500
HP:0000773	Short ribs	91179	SCARF2	OMIM:600920
HP:0000773	Short ribs	4617	MYF5	OMIM:618155
HP:0000773	Short ribs	112752	IFT43	OMIM:617866
HP:0000773	Short ribs	202018	TAPT1	OMIM:616897
HP:0000773	Short ribs	388015	RTL1	ORPHA:96334
HP:0000773	Short ribs	8788	DLK1	ORPHA:96334
HP:0000773	Short ribs	55384	MEG3	ORPHA:96334
HP:0000773	Short ribs	2316	FLNA	OMIM:304120
HP:0000773	Short ribs	3911	LAMA5	OMIM:620076
HP:0000773	Short ribs	3930	LBR	OMIM:215140
HP:0000773	Short ribs	9321	TRIP11	OMIM:200600
HP:0000773	Short ribs	5331	PLCB3	OMIM:618961
HP:0000773	Short ribs	2121	EVC	OMIM:225500
HP:0000773	Short ribs	132884	EVC2	OMIM:225500
HP:0000773	Short ribs	153241	CEP120	OMIM:616300
HP:0000773	Short ribs	4998	ORC1	OMIM:224690
HP:0000773	Short ribs	50814	NSDHL	OMIM:308050
HP:0000773	Short ribs	7317	UBA1	ORPHA:1145
HP:0000773	Short ribs	2146	EZH2	OMIM:277590
HP:0000773	Short ribs	1302	COL11A2	OMIM:614524
HP:0000773	Short ribs	1302	COL11A2	ORPHA:2021
HP:0000773	Short ribs	9820	CUL7	OMIM:273750
HP:0000773	Short ribs	55764	IFT122	OMIM:218330
HP:0000773	Short ribs	3339	HSPG2	ORPHA:1865
HP:0000773	Short ribs	79087	ALG12	OMIM:607143
HP:0000773	Short ribs	9896	FIG4	ORPHA:3472
HP:0000773	Short ribs	55697	VAC14	ORPHA:3472
HP:0000773	Short ribs	3549	IHH	OMIM:607778
HP:0000773	Short ribs	860	RUNX2	OMIM:119600
HP:0000773	Short ribs	51626	DYNC2LI1	OMIM:617088
HP:0000773	Short ribs	9742	IFT140	OMIM:266920
HP:0000773	Short ribs	1301	COL11A1	OMIM:228520
HP:0000773	Short ribs	1301	COL11A1	ORPHA:2021
HP:0000773	Short ribs	51025	PAM16	OMIM:613320
HP:0000773	Short ribs	27152	INTU	OMIM:617925
HP:0000773	Short ribs	2719	GPC3	OMIM:312870
HP:0000773	Short ribs	2239	GPC4	OMIM:312870
HP:0000773	Short ribs	255758	DYNLT2B	OMIM:617405
HP:0000773	Short ribs	26005	C2CD3	OMIM:615948
HP:0000773	Short ribs	79158	GNPTAB	OMIM:252600
HP:0000773	Short ribs	23594	ORC6	OMIM:613803
HP:0000773	Short ribs	5727	PTCH1	OMIM:109400
HP:0000773	Short ribs	2879	GPX4	OMIM:250220
HP:0000773	Short ribs	4010	LMX1B	OMIM:161200
HP:0000773	Short ribs	10262	SF3B4	OMIM:154400
HP:0000773	Short ribs	26040	SETBP1	OMIM:269150
HP:0000774	Narrow chest	2261	FGFR3	OMIM:187601
HP:0000774	Narrow chest	2261	FGFR3	OMIM:187600
HP:0000774	Narrow chest	2261	FGFR3	ORPHA:93274
HP:0000774	Narrow chest	2261	FGFR3	ORPHA:1860
HP:0000774	Narrow chest	2261	FGFR3	OMIM:616482
HP:0000774	Narrow chest	4921	DDR2	OMIM:271665
HP:0000774	Narrow chest	55906	ZC4H2	OMIM:301041
HP:0000774	Narrow chest	55906	ZC4H2	OMIM:314580
HP:0000774	Narrow chest	28981	IFT81	OMIM:617895
HP:0000774	Narrow chest	4750	NEK1	OMIM:263520
HP:0000774	Narrow chest	55503	TRPV6	OMIM:618188
HP:0000774	Narrow chest	55503	TRPV6	ORPHA:417
HP:0000774	Narrow chest	2879	GPX4	ORPHA:93317
HP:0000774	Narrow chest	2879	GPX4	OMIM:250220
HP:0000774	Narrow chest	89891	DYNC2I2	OMIM:615633
HP:0000774	Narrow chest	89891	DYNC2I2	ORPHA:93271
HP:0000774	Narrow chest	89891	DYNC2I2	ORPHA:474
HP:0000774	Narrow chest	23556	PIGN	ORPHA:2059
HP:0000774	Narrow chest	23556	PIGN	ORPHA:280633
HP:0000774	Narrow chest	57539	WDR35	OMIM:613610
HP:0000774	Narrow chest	57539	WDR35	ORPHA:93271
HP:0000774	Narrow chest	57539	WDR35	ORPHA:1515
HP:0000774	Narrow chest	57539	WDR35	OMIM:614091
HP:0000774	Narrow chest	755	CFAP410	OMIM:602271
HP:0000774	Narrow chest	55733	HHAT	OMIM:600092
HP:0000774	Narrow chest	55733	HHAT	ORPHA:1422
HP:0000774	Narrow chest	3636	INPPL1	ORPHA:3144
HP:0000774	Narrow chest	3636	INPPL1	OMIM:258480
HP:0000774	Narrow chest	3636	INPPL1	ORPHA:2746
HP:0000774	Narrow chest	23169	SLC35D1	ORPHA:3144
HP:0000774	Narrow chest	23169	SLC35D1	OMIM:269250
HP:0000774	Narrow chest	538	ATP7A	OMIM:304150
HP:0000774	Narrow chest	538	ATP7A	ORPHA:565
HP:0000774	Narrow chest	538	ATP7A	ORPHA:198
HP:0000774	Narrow chest	5745	PTH1R	OMIM:215045
HP:0000774	Narrow chest	5745	PTH1R	ORPHA:50945
HP:0000774	Narrow chest	10312	TCIRG1	ORPHA:667
HP:0000774	Narrow chest	1186	CLCN7	ORPHA:667
HP:0000774	Narrow chest	29887	SNX10	ORPHA:667
HP:0000774	Narrow chest	8600	TNFSF11	ORPHA:667
HP:0000774	Narrow chest	5447	POR	ORPHA:95699
HP:0000774	Narrow chest	5447	POR	OMIM:207410
HP:0000774	Narrow chest	1836	SLC26A2	ORPHA:56304
HP:0000774	Narrow chest	1836	SLC26A2	OMIM:600972
HP:0000774	Narrow chest	1836	SLC26A2	ORPHA:93298
HP:0000774	Narrow chest	59341	TRPV4	OMIM:156530
HP:0000774	Narrow chest	59341	TRPV4	ORPHA:2635
HP:0000774	Narrow chest	6662	SOX9	ORPHA:140
HP:0000774	Narrow chest	10479	SLC9A6	OMIM:300243
HP:0000774	Narrow chest	55112	DYNC2I1	ORPHA:93271
HP:0000774	Narrow chest	55112	DYNC2I1	ORPHA:474
HP:0000774	Narrow chest	55112	DYNC2I1	OMIM:615503
HP:0000774	Narrow chest	57560	IFT80	ORPHA:93271
HP:0000774	Narrow chest	57560	IFT80	ORPHA:474
HP:0000774	Narrow chest	57560	IFT80	OMIM:611263
HP:0000774	Narrow chest	79659	DYNC2H1	ORPHA:93271
HP:0000774	Narrow chest	79659	DYNC2H1	ORPHA:474
HP:0000774	Narrow chest	58	ACTA1	ORPHA:171436
HP:0000774	Narrow chest	58	ACTA1	ORPHA:171439
HP:0000774	Narrow chest	7169	TPM2	ORPHA:171436
HP:0000774	Narrow chest	7169	TPM2	ORPHA:171439
HP:0000774	Narrow chest	4703	NEB	ORPHA:171436
HP:0000774	Narrow chest	4703	NEB	ORPHA:171439
HP:0000774	Narrow chest	10324	KLHL41	ORPHA:171436
HP:0000774	Narrow chest	10324	KLHL41	OMIM:615731
HP:0000774	Narrow chest	10324	KLHL41	ORPHA:171439
HP:0000774	Narrow chest	56203	LMOD3	ORPHA:171436
HP:0000774	Narrow chest	1073	CFL2	ORPHA:171436
HP:0000774	Narrow chest	91754	NEK9	OMIM:617022
HP:0000774	Narrow chest	51119	SBDS	OMIM:260400
HP:0000774	Narrow chest	134218	DNAJC21	OMIM:260400
HP:0000774	Narrow chest	6729	SRP54	OMIM:260400
HP:0000774	Narrow chest	2317	FLNB	ORPHA:1190
HP:0000774	Narrow chest	2317	FLNB	OMIM:108720
HP:0000774	Narrow chest	2317	FLNB	ORPHA:1263
HP:0000774	Narrow chest	375790	AGRN	OMIM:615120
HP:0000774	Narrow chest	8942	KYNU	OMIM:617661
HP:0000774	Narrow chest	2263	FGFR2	OMIM:207410
HP:0000774	Narrow chest	72	ACTG2	ORPHA:2604
HP:0000774	Narrow chest	22858	CILK1	OMIM:612651
HP:0000774	Narrow chest	846	CASR	ORPHA:417
HP:0000774	Narrow chest	846	CASR	OMIM:239200
HP:0000774	Narrow chest	3764	KCNJ8	ORPHA:1517
HP:0000774	Narrow chest	10060	ABCC9	ORPHA:1517
HP:0000774	Narrow chest	10060	ABCC9	OMIM:239850
HP:0000774	Narrow chest	112752	IFT43	ORPHA:1515
HP:0000774	Narrow chest	112752	IFT43	OMIM:614099
HP:0000774	Narrow chest	51098	IFT52	ORPHA:1515
HP:0000774	Narrow chest	51098	IFT52	OMIM:617102
HP:0000774	Narrow chest	55764	IFT122	ORPHA:1515
HP:0000774	Narrow chest	55764	IFT122	OMIM:218330
HP:0000774	Narrow chest	57728	WDR19	ORPHA:1515
HP:0000774	Narrow chest	57728	WDR19	ORPHA:474
HP:0000774	Narrow chest	57728	WDR19	OMIM:614378
HP:0000774	Narrow chest	57728	WDR19	OMIM:614376
HP:0000774	Narrow chest	79158	GNPTAB	ORPHA:576
HP:0000774	Narrow chest	1741	DLG3	OMIM:300850
HP:0000774	Narrow chest	6023	RMRP	ORPHA:175
HP:0000774	Narrow chest	6023	RMRP	OMIM:250250
HP:0000774	Narrow chest	10484	SEC23A	ORPHA:50814
HP:0000774	Narrow chest	10484	SEC23A	OMIM:607812
HP:0000774	Narrow chest	3549	IHH	ORPHA:63446
HP:0000774	Narrow chest	3549	IHH	OMIM:607778
HP:0000774	Narrow chest	23184	MESD	OMIM:618644
HP:0000774	Narrow chest	90993	CREB3L1	OMIM:616229
HP:0000774	Narrow chest	64131	XYLT1	OMIM:615777
HP:0000774	Narrow chest	3339	HSPG2	ORPHA:1865
HP:0000774	Narrow chest	22827	PUF60	ORPHA:508488
HP:0000774	Narrow chest	5566	PRKACA	ORPHA:289
HP:0000774	Narrow chest	5567	PRKACB	ORPHA:289
HP:0000774	Narrow chest	5567	PRKACB	OMIM:619143
HP:0000774	Narrow chest	2735	GLI1	ORPHA:289
HP:0000774	Narrow chest	2121	EVC	ORPHA:289
HP:0000774	Narrow chest	2121	EVC	OMIM:225500
HP:0000774	Narrow chest	51626	DYNC2LI1	ORPHA:289
HP:0000774	Narrow chest	51626	DYNC2LI1	ORPHA:474
HP:0000774	Narrow chest	51626	DYNC2LI1	OMIM:617088
HP:0000774	Narrow chest	132884	EVC2	ORPHA:289
HP:0000774	Narrow chest	132884	EVC2	OMIM:225500
HP:0000774	Narrow chest	7703	PCGF2	OMIM:618371
HP:0000774	Narrow chest	860	RUNX2	OMIM:119600
HP:0000774	Narrow chest	860	RUNX2	ORPHA:1452
HP:0000774	Narrow chest	79867	TCTN2	OMIM:613885
HP:0000774	Narrow chest	79633	FAT4	OMIM:615546
HP:0000774	Narrow chest	79633	FAT4	ORPHA:2136
HP:0000774	Narrow chest	5116	PCNT	OMIM:210720
HP:0000774	Narrow chest	1301	COL11A1	ORPHA:2021
HP:0000774	Narrow chest	1301	COL11A1	ORPHA:440354
HP:0000774	Narrow chest	1302	COL11A2	ORPHA:2021
HP:0000774	Narrow chest	8642	DCHS1	OMIM:601390
HP:0000774	Narrow chest	2200	FBN1	OMIM:616914
HP:0000774	Narrow chest	2200	FBN1	ORPHA:2462
HP:0000774	Narrow chest	23594	ORC6	OMIM:613803
HP:0000774	Narrow chest	29980	DONSON	OMIM:251230
HP:0000774	Narrow chest	2316	FLNA	ORPHA:90652
HP:0000774	Narrow chest	2316	FLNA	ORPHA:2484
HP:0000774	Narrow chest	2316	FLNA	OMIM:304120
HP:0000774	Narrow chest	2316	FLNA	OMIM:309350
HP:0000774	Narrow chest	26160	IFT172	ORPHA:474
HP:0000774	Narrow chest	153241	CEP120	ORPHA:474
HP:0000774	Narrow chest	153241	CEP120	OMIM:616300
HP:0000774	Narrow chest	9742	IFT140	ORPHA:474
HP:0000774	Narrow chest	9742	IFT140	OMIM:266920
HP:0000774	Narrow chest	79809	TTC21B	ORPHA:474
HP:0000774	Narrow chest	79809	TTC21B	OMIM:613819
HP:0000774	Narrow chest	9321	TRIP11	ORPHA:166272
HP:0000774	Narrow chest	9321	TRIP11	OMIM:184260
HP:0000774	Narrow chest	9321	TRIP11	OMIM:200600
HP:0000774	Narrow chest	9321	TRIP11	ORPHA:93299
HP:0000774	Narrow chest	11285	B4GALT7	OMIM:130070
HP:0000774	Narrow chest	65109	UPF3B	OMIM:300676
HP:0000774	Narrow chest	1280	COL2A1	OMIM:151210
HP:0000774	Narrow chest	1280	COL2A1	ORPHA:85166
HP:0000774	Narrow chest	1280	COL2A1	ORPHA:93296
HP:0000774	Narrow chest	57003	CCDC47	OMIM:618268
HP:0000774	Narrow chest	8260	NAA10	OMIM:309800
HP:0000774	Narrow chest	54880	BCOR	OMIM:309800
HP:0000774	Narrow chest	9851	KIAA0753	OMIM:619479
HP:0000774	Narrow chest	9508	ADAMTS3	ORPHA:2136
HP:0000774	Narrow chest	147372	CCBE1	ORPHA:2136
HP:0000774	Narrow chest	54499	TMCO1	OMIM:213980
HP:0000774	Narrow chest	54499	TMCO1	ORPHA:1394
HP:0000774	Narrow chest	11128	POLR3A	OMIM:264090
HP:0000774	Narrow chest	3675	ITGA3	OMIM:614748
HP:0000774	Narrow chest	26137	ZBTB20	OMIM:259050
HP:0000774	Narrow chest	26137	ZBTB20	ORPHA:3042
HP:0000774	Narrow chest	2571	GAD1	OMIM:619124
HP:0000774	Narrow chest	2542	SLC37A4	OMIM:619525
HP:0000774	Narrow chest	7291	TWIST1	OMIM:617746
HP:0000774	Narrow chest	55717	WDR11	OMIM:620237
HP:0000774	Narrow chest	388015	RTL1	ORPHA:96334
HP:0000774	Narrow chest	8788	DLK1	ORPHA:96334
HP:0000774	Narrow chest	55384	MEG3	ORPHA:96334
HP:0000774	Narrow chest	124583	CANT1	OMIM:251450
HP:0000774	Narrow chest	3930	LBR	OMIM:215140
HP:0000774	Narrow chest	3930	LBR	ORPHA:1426
HP:0000774	Narrow chest	4000	LMNA	ORPHA:157973
HP:0000774	Narrow chest	5331	PLCB3	OMIM:618961
HP:0000774	Narrow chest	9968	MED12	OMIM:300895
HP:0000774	Narrow chest	9786	KIAA0586	OMIM:616546
HP:0000774	Narrow chest	10491	CRTAP	OMIM:610682
HP:0000774	Narrow chest	7994	KAT6A	OMIM:616268
HP:0000774	Narrow chest	84665	MYPN	ORPHA:171439
HP:0000774	Narrow chest	390594	KBTBD13	ORPHA:171439
HP:0000774	Narrow chest	7170	TPM3	ORPHA:171439
HP:0000774	Narrow chest	6223	RPS19	OMIM:105650
HP:0000774	Narrow chest	1513	CTSK	ORPHA:763
HP:0000774	Narrow chest	9469	CHST3	OMIM:245600
HP:0000774	Narrow chest	26229	B3GAT3	OMIM:245600
HP:0000774	Narrow chest	51025	PAM16	OMIM:613320
HP:0000774	Narrow chest	25871	NEPRO	OMIM:618853
HP:0000774	Narrow chest	27152	INTU	OMIM:617925
HP:0000774	Narrow chest	4654	MYOD1	OMIM:618975
HP:0000774	Narrow chest	6497	SKI	ORPHA:2462
HP:0000774	Narrow chest	255758	DYNLT2B	OMIM:617405
HP:0000774	Narrow chest	871	SERPINH1	OMIM:613848
HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	6929	TCF3	OMIM:619824
HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	54440	SASH3	OMIM:301082
HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5294	PIK3CG	OMIM:619802
HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	5294	PIK3CG	OMIM:619802
HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	6929	TCF3	OMIM:619824
HP:0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	8915	BCL10	OMIM:616098
HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	8915	BCL10	OMIM:616098
HP:0000910	Wide-cupped costochondral junctions	2261	FGFR3	OMIM:187601
HP:0000910	Wide-cupped costochondral junctions	2261	FGFR3	OMIM:187600
HP:0000911	Flat glenoid fossa	54808	DYM	OMIM:223800
HP:0000911	Flat glenoid fossa	4998	ORC1	OMIM:224690
HP:0000912	Sprengel anomaly	5077	PAX3	ORPHA:894
HP:0000912	Sprengel anomaly	5077	PAX3	OMIM:193500
HP:0000912	Sprengel anomaly	1947	EFNB1	OMIM:304110
HP:0000912	Sprengel anomaly	1947	EFNB1	ORPHA:1520
HP:0000912	Sprengel anomaly	6909	TBX2	OMIM:618223
HP:0000912	Sprengel anomaly	6910	TBX5	ORPHA:392
HP:0000912	Sprengel anomaly	392255	GDF6	OMIM:118100
HP:0000912	Sprengel anomaly	392255	GDF6	ORPHA:2345
HP:0000912	Sprengel anomaly	6135	RPL11	OMIM:612562
HP:0000912	Sprengel anomaly	6135	RPL11	ORPHA:124
HP:0000912	Sprengel anomaly	2316	FLNA	ORPHA:1826
HP:0000912	Sprengel anomaly	6885	MAP3K7	ORPHA:1826
HP:0000912	Sprengel anomaly	54499	TMCO1	OMIM:213980
HP:0000912	Sprengel anomaly	54499	TMCO1	ORPHA:1394
HP:0000912	Sprengel anomaly	4882	NPR2	ORPHA:40
HP:0000912	Sprengel anomaly	5781	PTPN11	ORPHA:500
HP:0000912	Sprengel anomaly	673	BRAF	ORPHA:500
HP:0000912	Sprengel anomaly	5894	RAF1	ORPHA:500
HP:0000912	Sprengel anomaly	2273	FHL1	ORPHA:98863
HP:0000912	Sprengel anomaly	2010	EMD	ORPHA:98863
HP:0000912	Sprengel anomaly	1000	CDH2	OMIM:618929
HP:0000912	Sprengel anomaly	3339	HSPG2	ORPHA:800
HP:0000912	Sprengel anomaly	10262	SF3B4	ORPHA:1788
HP:0000912	Sprengel anomaly	6138	RPL15	ORPHA:124
HP:0000912	Sprengel anomaly	6229	RPS24	ORPHA:124
HP:0000912	Sprengel anomaly	6125	RPL5	ORPHA:124
HP:0000912	Sprengel anomaly	6204	RPS10	ORPHA:124
HP:0000912	Sprengel anomaly	6224	RPS20	ORPHA:124
HP:0000912	Sprengel anomaly	6165	RPL35A	ORPHA:124
HP:0000912	Sprengel anomaly	2623	GATA1	ORPHA:124
HP:0000912	Sprengel anomaly	6223	RPS19	ORPHA:124
HP:0000912	Sprengel anomaly	6232	RPS27	ORPHA:124
HP:0000912	Sprengel anomaly	6231	RPS26	ORPHA:124
HP:0000912	Sprengel anomaly	11224	RPL35	ORPHA:124
HP:0000912	Sprengel anomaly	6160	RPL31	ORPHA:124
HP:0000912	Sprengel anomaly	6218	RPS17	ORPHA:124
HP:0000912	Sprengel anomaly	6201	RPS7	ORPHA:124
HP:0000912	Sprengel anomaly	6155	RPL27	ORPHA:124
HP:0000912	Sprengel anomaly	6154	RPL26	ORPHA:124
HP:0000912	Sprengel anomaly	6210	RPS15A	ORPHA:124
HP:0000912	Sprengel anomaly	90121	TSR2	ORPHA:124
HP:0000912	Sprengel anomaly	6141	RPL18	ORPHA:124
HP:0000912	Sprengel anomaly	6235	RPS29	ORPHA:124
HP:0000912	Sprengel anomaly	6234	RPS28	ORPHA:124
HP:0000912	Sprengel anomaly	51816	ADA2	ORPHA:124
HP:0000912	Sprengel anomaly	1281	COL3A1	ORPHA:286
HP:0000912	Sprengel anomaly	9573	GDF3	ORPHA:2345
HP:0000912	Sprengel anomaly	4222	MEOX1	ORPHA:2345
HP:0000912	Sprengel anomaly	4222	MEOX1	OMIM:214300
HP:0000912	Sprengel anomaly	10801	SEPTIN9	ORPHA:2901
HP:0000912	Sprengel anomaly	51729	WBP11	OMIM:619227
HP:0000912	Sprengel anomaly	4000	LMNA	ORPHA:98855
HP:0000912	Sprengel anomaly	4000	LMNA	ORPHA:98853
HP:0000912	Sprengel anomaly	6926	TBX3	ORPHA:3138
HP:0000912	Sprengel anomaly	79188	TMEM43	ORPHA:98853
HP:0000912	Sprengel anomaly	23345	SYNE1	ORPHA:98853
HP:0000912	Sprengel anomaly	23224	SYNE2	ORPHA:98853
HP:0000912	Sprengel anomaly	5727	PTCH1	OMIM:109400
HP:0000913	Posterior rib fusion	6911	TBX6	ORPHA:1797
HP:0000913	Posterior rib fusion	6911	TBX6	OMIM:122600
HP:0000913	Posterior rib fusion	2294	FOXF1	OMIM:265380
HP:0000914	Shield chest	64132	XYLT2	OMIM:605822
HP:0000914	Shield chest	54808	DYM	OMIM:223800
HP:0000914	Shield chest	10940	POP1	OMIM:617396
HP:0000914	Shield chest	9469	CHST3	OMIM:143095
HP:0000914	Shield chest	2517	FUCA1	OMIM:230000
HP:0000914	Shield chest	55969	RAB5IF	OMIM:616994
HP:0000914	Shield chest	54361	WNT4	ORPHA:247768
HP:0000914	Shield chest	673	BRAF	OMIM:115150
HP:0000914	Shield chest	673	BRAF	OMIM:613707
HP:0000914	Shield chest	673	BRAF	OMIM:613706
HP:0000914	Shield chest	673	BRAF	OMIM:163950
HP:0000914	Shield chest	6399	TRAPPC2	OMIM:313400
HP:0000914	Shield chest	10847	SRCAP	ORPHA:2044
HP:0000914	Shield chest	8216	LZTR1	OMIM:605275
HP:0000914	Shield chest	3845	KRAS	OMIM:609942
HP:0000914	Shield chest	59341	TRPV4	ORPHA:93314
HP:0000914	Shield chest	5604	MAP2K1	OMIM:163950
HP:0000914	Shield chest	5781	PTPN11	OMIM:163950
HP:0000914	Shield chest	3417	IDH1	ORPHA:99646
HP:0000915	Pectus excavatum of inferior sternum	4763	NF1	OMIM:601321
HP:0000915	Pectus excavatum of inferior sternum	6654	SOS1	OMIM:610733
HP:0000915	Pectus excavatum of inferior sternum	5604	MAP2K1	OMIM:163950
HP:0000915	Pectus excavatum of inferior sternum	5781	PTPN11	OMIM:163950
HP:0000915	Pectus excavatum of inferior sternum	673	BRAF	OMIM:163950
HP:0000916	Broad clavicles	4313	MMP2	ORPHA:371428
HP:0000916	Broad clavicles	4323	MMP14	ORPHA:371428
HP:0000916	Broad clavicles	50964	SOST	OMIM:269500
HP:0000916	Broad clavicles	114803	MYSM1	ORPHA:508542
HP:0000916	Broad clavicles	9321	TRIP11	OMIM:200600
HP:0000916	Broad clavicles	9791	PTDSS1	OMIM:151050
HP:0000916	Broad clavicles	7476	WNT7A	OMIM:276820
HP:0000916	Broad clavicles	285590	SH3PXD2B	OMIM:249420
HP:0000916	Broad clavicles	538	ATP7A	OMIM:304150
HP:0000916	Broad clavicles	153642	ARSK	OMIM:619698
HP:0000916	Broad clavicles	5745	PTH1R	ORPHA:50945
HP:0000917	Superior pectus carinatum	4763	NF1	OMIM:601321
HP:0000917	Superior pectus carinatum	5604	MAP2K1	OMIM:163950
HP:0000917	Superior pectus carinatum	5781	PTPN11	OMIM:163950
HP:0000917	Superior pectus carinatum	673	BRAF	OMIM:163950
HP:0000918	Scapular exostoses	2131	EXT1	ORPHA:321
HP:0000918	Scapular exostoses	2131	EXT1	OMIM:133700
HP:0000918	Scapular exostoses	2132	EXT2	ORPHA:321
HP:0000918	Scapular exostoses	2132	EXT2	OMIM:133701
HP:0000919	Abnormality of the costochondral junction	7421	VDR	OMIM:277440
HP:0000919	Abnormality of the costochondral junction	120227	CYP2R1	OMIM:600081
HP:0000919	Abnormality of the costochondral junction	1594	CYP27B1	OMIM:264700
HP:0000919	Abnormality of the costochondral junction	142680	SLC34A3	OMIM:241530
HP:0000919	Abnormality of the costochondral junction	1497	CTNS	OMIM:219800
HP:0000919	Abnormality of the costochondral junction	249	ALPL	OMIM:241500
HP:0000919	Abnormality of the costochondral junction	249	ALPL	OMIM:241510
HP:0000919	Abnormality of the costochondral junction	6569	SLC34A1	ORPHA:157215
HP:0000919	Abnormality of the costochondral junction	2261	FGFR3	OMIM:187601
HP:0000919	Abnormality of the costochondral junction	2261	FGFR3	OMIM:187600
HP:0000919	Abnormality of the costochondral junction	388015	RTL1	ORPHA:96334
HP:0000919	Abnormality of the costochondral junction	8788	DLK1	ORPHA:96334
HP:0000919	Abnormality of the costochondral junction	55384	MEG3	ORPHA:96334
HP:0000919	Abnormality of the costochondral junction	415	ARSL	ORPHA:79345
HP:0000919	Abnormality of the costochondral junction	9241	NOG	OMIM:186500
HP:0000919	Abnormality of the costochondral junction	54808	DYM	OMIM:223800
HP:0000919	Abnormality of the costochondral junction	5593	PRKG2	OMIM:619636
HP:0000919	Abnormality of the costochondral junction	5251	PHEX	ORPHA:89936
HP:0000919	Abnormality of the costochondral junction	51119	SBDS	OMIM:260400
HP:0000919	Abnormality of the costochondral junction	134218	DNAJC21	OMIM:260400
HP:0000919	Abnormality of the costochondral junction	6729	SRP54	OMIM:260400
HP:0000919	Abnormality of the costochondral junction	4921	DDR2	OMIM:271665
HP:0000919	Abnormality of the costochondral junction	10861	SLC26A1	OMIM:620372
HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	6929	TCF3	OMIM:619824
HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	54440	SASH3	OMIM:301082
HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	6929	TCF3	OMIM:619824
HP:0000920	Enlargement of the costochondral junction	9241	NOG	OMIM:186500
HP:0000920	Enlargement of the costochondral junction	54808	DYM	OMIM:223800
HP:0000920	Enlargement of the costochondral junction	5593	PRKG2	OMIM:619636
HP:0000920	Enlargement of the costochondral junction	120227	CYP2R1	OMIM:600081
HP:0000920	Enlargement of the costochondral junction	120227	CYP2R1	ORPHA:289157
HP:0000920	Enlargement of the costochondral junction	5251	PHEX	ORPHA:89936
HP:0000920	Enlargement of the costochondral junction	1594	CYP27B1	OMIM:264700
HP:0000920	Enlargement of the costochondral junction	1594	CYP27B1	ORPHA:289157
HP:0000920	Enlargement of the costochondral junction	51119	SBDS	OMIM:260400
HP:0000920	Enlargement of the costochondral junction	134218	DNAJC21	OMIM:260400
HP:0000920	Enlargement of the costochondral junction	6729	SRP54	OMIM:260400
HP:0000920	Enlargement of the costochondral junction	142680	SLC34A3	OMIM:241530
HP:0000921	Missing ribs	3930	LBR	OMIM:215140
HP:0000921	Missing ribs	65250	CPLANE1	OMIM:277170
HP:0000921	Missing ribs	259232	NALCN	OMIM:616266
HP:0000921	Missing ribs	650	BMP2	OMIM:617877
HP:0000921	Missing ribs	100151683	RNU4ATAC	OMIM:210710
HP:0000921	Missing ribs	1861	TOR1A	OMIM:618947
HP:0000921	Missing ribs	55835	CENPJ	OMIM:613676
HP:0000921	Missing ribs	5557	PRIM1	OMIM:620005
HP:0000921	Missing ribs	22800	RRAS2	OMIM:618624
HP:0000921	Missing ribs	1788	DNMT3A	OMIM:618724
HP:0000921	Missing ribs	8854	ALDH1A2	OMIM:620025
HP:0000921	Missing ribs	5590	PRKCZ	ORPHA:1606
HP:0000921	Missing ribs	2563	GABRD	ORPHA:1606
HP:0000921	Missing ribs	23013	SPEN	ORPHA:1606
HP:0000921	Missing ribs	8510	MMP23B	ORPHA:1606
HP:0000921	Missing ribs	7798	LUZP1	ORPHA:1606
HP:0000921	Missing ribs	10630	PDPN	ORPHA:1606
HP:0000921	Missing ribs	3339	HSPG2	ORPHA:1606
HP:0000921	Missing ribs	10277	UBE4B	ORPHA:1606
HP:0000921	Missing ribs	8514	KCNAB2	ORPHA:1606
HP:0000921	Missing ribs	473	RERE	ORPHA:1606
HP:0000921	Missing ribs	63976	PRDM16	ORPHA:1606
HP:0000921	Missing ribs	54897	CASZ1	ORPHA:1606
HP:0000921	Missing ribs	526	ATP6V1B2	ORPHA:79500
HP:0000921	Missing ribs	57465	TBC1D24	ORPHA:79500
HP:0000921	Missing ribs	2317	FLNB	OMIM:108720
HP:0000921	Missing ribs	6223	RPS19	OMIM:105650
HP:0000921	Missing ribs	10236	HNRNPR	OMIM:620073
HP:0000921	Missing ribs	222663	SCUBE3	OMIM:619184
HP:0000921	Missing ribs	9469	CHST3	OMIM:245600
HP:0000921	Missing ribs	26229	B3GAT3	OMIM:245600
HP:0000921	Missing ribs	4927	NUP88	OMIM:618393
HP:0000921	Missing ribs	6662	SOX9	ORPHA:140
HP:0000921	Missing ribs	6662	SOX9	OMIM:114290
HP:0000921	Missing ribs	10847	SRCAP	OMIM:136140
HP:0000921	Missing ribs	10847	SRCAP	ORPHA:2044
HP:0000921	Missing ribs	10013	HDAC6	OMIM:300863
HP:0000921	Missing ribs	23114	NFASC	OMIM:618356
HP:0000921	Missing ribs	11041	B4GAT1	OMIM:615287
HP:0000921	Missing ribs	8942	KYNU	OMIM:617661
HP:0000921	Missing ribs	545	ATR	OMIM:210600
HP:0000921	Missing ribs	93627	TBCK	ORPHA:488632
HP:0000921	Missing ribs	22995	CEP152	OMIM:613823
HP:0000921	Missing ribs	2879	GPX4	OMIM:250220
HP:0000921	Missing ribs	126792	B3GALT6	OMIM:271640
HP:0000921	Missing ribs	4920	ROR2	OMIM:268310
HP:0000921	Missing ribs	9897	WASHC5	OMIM:220210
HP:0000921	Missing ribs	9897	WASHC5	ORPHA:7
HP:0000921	Missing ribs	10606	PAICS	OMIM:619859
HP:0000921	Missing ribs	168667	BMPER	ORPHA:66637
HP:0000921	Missing ribs	168667	BMPER	OMIM:608022
HP:0000921	Missing ribs	7473	WNT3	ORPHA:3301
HP:0000921	Missing ribs	340419	RSPO2	ORPHA:3301
HP:0000921	Missing ribs	81839	VANGL1	ORPHA:3027
HP:0000921	Missing ribs	80199	FUZ	ORPHA:3027
HP:0000921	Missing ribs	28952	CCDC22	ORPHA:7
HP:0000921	Missing ribs	5781	PTPN11	OMIM:151100
HP:0000921	Missing ribs	4617	MYF5	OMIM:618155
HP:0000921	Missing ribs	112752	IFT43	OMIM:617866
HP:0000921	Missing ribs	6911	TBX6	ORPHA:1797
HP:0000921	Missing ribs	6911	TBX6	OMIM:122600
HP:0000921	Missing ribs	84667	HES7	OMIM:613686
HP:0000921	Missing ribs	2200	FBN1	ORPHA:2462
HP:0000921	Missing ribs	6497	SKI	ORPHA:2462
HP:0000921	Missing ribs	4990	SIX6	OMIM:206900
HP:0000921	Missing ribs	6657	SOX2	OMIM:206900
HP:0000921	Missing ribs	2313	FLI1	ORPHA:2308
HP:0000921	Missing ribs	29980	DONSON	OMIM:251230
HP:0000921	Missing ribs	6628	SNRPB	OMIM:117650
HP:0000922	Posterior rib cupping	4148	MATN3	OMIM:608728
HP:0000922	Posterior rib cupping	4921	DDR2	OMIM:271665
HP:0000922	Posterior rib cupping	3636	INPPL1	OMIM:258480
HP:0000922	Posterior rib cupping	633	BGN	OMIM:300106
HP:0000922	Posterior rib cupping	1301	COL11A1	OMIM:228520
HP:0000923	Beaded ribs	202018	TAPT1	OMIM:616897
HP:0000923	Beaded ribs	3930	LBR	OMIM:215140
HP:0000923	Beaded ribs	9321	TRIP11	OMIM:200600
HP:0000923	Beaded ribs	90993	CREB3L1	OMIM:616229
HP:0000923	Beaded ribs	1277	COL1A1	OMIM:166210
HP:0000923	Beaded ribs	1278	COL1A2	OMIM:166210
HP:0000923	Beaded ribs	5251	PHEX	ORPHA:89936
HP:0000923	Beaded ribs	5479	PPIB	OMIM:259440
HP:0000924	Abnormality of the skeletal system	3975	LHX1	ORPHA:261265
HP:0000924	Abnormality of the skeletal system	5172	SLC26A4	ORPHA:95720
HP:0000924	Abnormality of the skeletal system	5172	SLC26A4	ORPHA:95713
HP:0000924	Abnormality of the skeletal system	23229	ARHGEF9	ORPHA:163985
HP:0000924	Abnormality of the skeletal system	23229	ARHGEF9	OMIM:300607
HP:0000924	Abnormality of the skeletal system	4860	PNP	OMIM:613179
HP:0000924	Abnormality of the skeletal system	3115	HLA-DPB1	ORPHA:900
HP:0000924	Abnormality of the skeletal system	5657	PRTN3	ORPHA:900
HP:0000924	Abnormality of the skeletal system	3113	HLA-DPA1	ORPHA:900
HP:0000924	Abnormality of the skeletal system	4689	NCF4	ORPHA:379
HP:0000924	Abnormality of the skeletal system	79415	CYBC1	ORPHA:379
HP:0000924	Abnormality of the skeletal system	5994	RFXAP	ORPHA:572
HP:0000924	Abnormality of the skeletal system	5993	RFX5	ORPHA:572
HP:0000924	Abnormality of the skeletal system	8625	RFXANK	ORPHA:572
HP:0000924	Abnormality of the skeletal system	7852	CXCR4	ORPHA:51636
HP:0000924	Abnormality of the skeletal system	3321	IGSF3	OMIM:149700
HP:0000924	Abnormality of the skeletal system	253959	RALGAPA1	OMIM:618797
HP:0000924	Abnormality of the skeletal system	23495	TNFRSF13B	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	4790	NFKB1	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	4791	NFKB2	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	115650	TNFRSF13C	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	1380	CR2	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	8742	TNFSF12	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	930	CD19	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	29851	ICOS	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	931	MS4A1	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	975	CD81	ORPHA:1572
HP:0000924	Abnormality of the skeletal system	10771	ZMYND11	OMIM:616083
HP:0000924	Abnormality of the skeletal system	4858	NOVA2	OMIM:618859
HP:0000924	Abnormality of the skeletal system	51569	UFM1	OMIM:617899
HP:0000924	Abnormality of the skeletal system	477	ATP1A2	OMIM:619602
HP:0000924	Abnormality of the skeletal system	477	ATP1A2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	84520	GON7	OMIM:619603
HP:0000924	Abnormality of the skeletal system	10111	RAD50	OMIM:613078
HP:0000924	Abnormality of the skeletal system	55621	TRMT1	OMIM:618302
HP:0000924	Abnormality of the skeletal system	54828	BCAS3	OMIM:619641
HP:0000924	Abnormality of the skeletal system	2232	FDXR	ORPHA:543470
HP:0000924	Abnormality of the skeletal system	5917	RARS1	OMIM:616140
HP:0000924	Abnormality of the skeletal system	5917	RARS1	ORPHA:438114
HP:0000924	Abnormality of the skeletal system	54916	TMEM260	OMIM:617478
HP:0000924	Abnormality of the skeletal system	120	ADD3	OMIM:617008
HP:0000924	Abnormality of the skeletal system	3155	HMGCL	ORPHA:20
HP:0000924	Abnormality of the skeletal system	3155	HMGCL	OMIM:246450
HP:0000924	Abnormality of the skeletal system	154881	KCTD7	OMIM:611726
HP:0000924	Abnormality of the skeletal system	154881	KCTD7	ORPHA:263516
HP:0000924	Abnormality of the skeletal system	3054	HCFC1	OMIM:309541
HP:0000924	Abnormality of the skeletal system	3431	SP110	OMIM:235550
HP:0000924	Abnormality of the skeletal system	3431	SP110	ORPHA:79124
HP:0000924	Abnormality of the skeletal system	3028	HSD17B10	ORPHA:391428
HP:0000924	Abnormality of the skeletal system	27107	ZBTB11	OMIM:618383
HP:0000924	Abnormality of the skeletal system	8452	CUL3	OMIM:619239
HP:0000924	Abnormality of the skeletal system	201595	STT3B	ORPHA:370924
HP:0000924	Abnormality of the skeletal system	201595	STT3B	OMIM:615597
HP:0000924	Abnormality of the skeletal system	81615	TMEM163	OMIM:620243
HP:0000924	Abnormality of the skeletal system	5138	PDE2A	OMIM:619150
HP:0000924	Abnormality of the skeletal system	26960	NBEA	OMIM:619157
HP:0000924	Abnormality of the skeletal system	9640	ZNF592	ORPHA:83472
HP:0000924	Abnormality of the skeletal system	3242	HPD	OMIM:140350
HP:0000924	Abnormality of the skeletal system	338657	CENATAC	OMIM:620153
HP:0000924	Abnormality of the skeletal system	4718	NDUFC2	OMIM:619170
HP:0000924	Abnormality of the skeletal system	1738	DLD	ORPHA:2394
HP:0000924	Abnormality of the skeletal system	1738	DLD	OMIM:246900
HP:0000924	Abnormality of the skeletal system	84947	SERAC1	OMIM:614739
HP:0000924	Abnormality of the skeletal system	54084	TSPEAR	OMIM:620173
HP:0000924	Abnormality of the skeletal system	1737	DLAT	OMIM:245348
HP:0000924	Abnormality of the skeletal system	1737	DLAT	ORPHA:79244
HP:0000924	Abnormality of the skeletal system	158	ADSL	ORPHA:46
HP:0000924	Abnormality of the skeletal system	158	ADSL	OMIM:103050
HP:0000924	Abnormality of the skeletal system	51567	TDP2	OMIM:616949
HP:0000924	Abnormality of the skeletal system	9837	GINS1	OMIM:617827
HP:0000924	Abnormality of the skeletal system	79840	NHEJ1	ORPHA:169079
HP:0000924	Abnormality of the skeletal system	5723	PSPH	ORPHA:79350
HP:0000924	Abnormality of the skeletal system	5723	PSPH	OMIM:614023
HP:0000924	Abnormality of the skeletal system	55180	LINS1	OMIM:614340
HP:0000924	Abnormality of the skeletal system	6697	SPR	ORPHA:70594
HP:0000924	Abnormality of the skeletal system	6697	SPR	OMIM:612716
HP:0000924	Abnormality of the skeletal system	953	ENTPD1	OMIM:615683
HP:0000924	Abnormality of the skeletal system	953	ENTPD1	ORPHA:401810
HP:0000924	Abnormality of the skeletal system	54802	TRIT1	OMIM:617873
HP:0000924	Abnormality of the skeletal system	8086	AAAS	OMIM:231550
HP:0000924	Abnormality of the skeletal system	8086	AAAS	ORPHA:869
HP:0000924	Abnormality of the skeletal system	51075	TMX2	OMIM:618730
HP:0000924	Abnormality of the skeletal system	6873	TAF2	OMIM:615599
HP:0000924	Abnormality of the skeletal system	1355	COX15	OMIM:615119
HP:0000924	Abnormality of the skeletal system	5361	PLXNA1	OMIM:619955
HP:0000924	Abnormality of the skeletal system	80153	EDC3	OMIM:616460
HP:0000924	Abnormality of the skeletal system	816	CAMK2B	OMIM:617799
HP:0000924	Abnormality of the skeletal system	3737	KCNA2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	1759	DNM1	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	8120	AP3B2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	8120	AP3B2	OMIM:617276
HP:0000924	Abnormality of the skeletal system	10991	SLC38A3	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	10991	SLC38A3	OMIM:619881
HP:0000924	Abnormality of the skeletal system	1917	EEF1A2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	1917	EEF1A2	OMIM:616393
HP:0000924	Abnormality of the skeletal system	2561	GABRB2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	79876	UBA5	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	6328	SCN3A	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	6328	SCN3A	OMIM:617935
HP:0000924	Abnormality of the skeletal system	6328	SCN3A	OMIM:617938
HP:0000924	Abnormality of the skeletal system	2558	GABRA5	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	2906	GRIN2D	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	2906	GRIN2D	OMIM:617162
HP:0000924	Abnormality of the skeletal system	10659	CELF2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	774	CACNA1B	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	1213	CLTC	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	23334	SZT2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	3745	KCNB1	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	25977	NECAP1	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	22866	CNKSR2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	2555	GABRA2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	2555	GABRA2	OMIM:618557
HP:0000924	Abnormality of the skeletal system	55152	DALRD3	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	55152	DALRD3	OMIM:618910
HP:0000924	Abnormality of the skeletal system	4915	NTRK2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	25973	PARS2	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	64801	ARV1	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	79947	DHDDS	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	2257	FGF12	ORPHA:442835
HP:0000924	Abnormality of the skeletal system	7385	UQCRC2	OMIM:615160
HP:0000924	Abnormality of the skeletal system	9922	IQSEC1	OMIM:618687
HP:0000924	Abnormality of the skeletal system	133686	NADK2	OMIM:616034
HP:0000924	Abnormality of the skeletal system	133686	NADK2	ORPHA:431361
HP:0000924	Abnormality of the skeletal system	498	ATP5F1A	OMIM:616045
HP:0000924	Abnormality of the skeletal system	4729	NDUFV2	OMIM:618229
HP:0000924	Abnormality of the skeletal system	4729	NDUFV2	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4695	NDUFA2	OMIM:618235
HP:0000924	Abnormality of the skeletal system	340665	CYP26C1	ORPHA:398189
HP:0000924	Abnormality of the skeletal system	2898	GRIK2	OMIM:619580
HP:0000924	Abnormality of the skeletal system	10524	KAT5	OMIM:619103
HP:0000924	Abnormality of the skeletal system	55526	DHTKD1	OMIM:204750
HP:0000924	Abnormality of the skeletal system	1727	CYB5R3	ORPHA:621
HP:0000924	Abnormality of the skeletal system	1727	CYB5R3	OMIM:250800
HP:0000924	Abnormality of the skeletal system	9895	TECPR2	ORPHA:320385
HP:0000924	Abnormality of the skeletal system	9895	TECPR2	OMIM:615031
HP:0000924	Abnormality of the skeletal system	3739	KCNA4	OMIM:618284
HP:0000924	Abnormality of the skeletal system	8665	EIF3F	OMIM:618295
HP:0000924	Abnormality of the skeletal system	10134	BCAP31	OMIM:300475
HP:0000924	Abnormality of the skeletal system	10134	BCAP31	ORPHA:369939
HP:0000924	Abnormality of the skeletal system	57176	VARS2	OMIM:615917
HP:0000924	Abnormality of the skeletal system	5689	PSMB1	OMIM:620038
HP:0000924	Abnormality of the skeletal system	10472	ZBTB18	ORPHA:36367
HP:0000924	Abnormality of the skeletal system	10472	ZBTB18	OMIM:612337
HP:0000924	Abnormality of the skeletal system	83475	DOHH	OMIM:620066
HP:0000924	Abnormality of the skeletal system	5591	PRKDC	OMIM:615966
HP:0000924	Abnormality of the skeletal system	92154	MTSS2	OMIM:620086
HP:0000924	Abnormality of the skeletal system	197322	ACSF3	ORPHA:289504
HP:0000924	Abnormality of the skeletal system	1828	DSG1	OMIM:615508
HP:0000924	Abnormality of the skeletal system	549	AUH	ORPHA:67046
HP:0000924	Abnormality of the skeletal system	6301	SARS1	OMIM:617709
HP:0000924	Abnormality of the skeletal system	55997	CFC1	OMIM:605376
HP:0000924	Abnormality of the skeletal system	128989	TANGO2	OMIM:616878
HP:0000924	Abnormality of the skeletal system	128989	TANGO2	ORPHA:480864
HP:0000924	Abnormality of the skeletal system	54805	CNNM2	OMIM:616418
HP:0000924	Abnormality of the skeletal system	9439	MED23	OMIM:614249
HP:0000924	Abnormality of the skeletal system	387787	LIPT2	OMIM:617668
HP:0000924	Abnormality of the skeletal system	1716	DGUOK	OMIM:251880
HP:0000924	Abnormality of the skeletal system	788	SLC25A20	ORPHA:159
HP:0000924	Abnormality of the skeletal system	55773	TBC1D23	OMIM:617695
HP:0000924	Abnormality of the skeletal system	51692	CPSF3	OMIM:619876
HP:0000924	Abnormality of the skeletal system	116115	ZNF526	OMIM:619877
HP:0000924	Abnormality of the skeletal system	4285	MIPEP	OMIM:617228
HP:0000924	Abnormality of the skeletal system	55656	INTS8	OMIM:618572
HP:0000924	Abnormality of the skeletal system	84894	LINGO1	OMIM:618103
HP:0000924	Abnormality of the skeletal system	7283	TUBG1	ORPHA:261183
HP:0000924	Abnormality of the skeletal system	7283	TUBG1	OMIM:615412
HP:0000924	Abnormality of the skeletal system	81614	NIPA2	ORPHA:261183
HP:0000924	Abnormality of the skeletal system	1120	CHKB	OMIM:602541
HP:0000924	Abnormality of the skeletal system	3778	KCNMA1	OMIM:618596
HP:0000924	Abnormality of the skeletal system	27341	RRP7A	OMIM:619453
HP:0000924	Abnormality of the skeletal system	6821	SUOX	OMIM:272300
HP:0000924	Abnormality of the skeletal system	84065	TMEM222	OMIM:619470
HP:0000924	Abnormality of the skeletal system	7284	TUFM	OMIM:610678
HP:0000924	Abnormality of the skeletal system	5805	PTS	OMIM:261640
HP:0000924	Abnormality of the skeletal system	63899	NSUN3	OMIM:619012
HP:0000924	Abnormality of the skeletal system	54936	ADPRS	OMIM:618170
HP:0000924	Abnormality of the skeletal system	123263	MTFMT	OMIM:614947
HP:0000924	Abnormality of the skeletal system	57582	KCNT1	OMIM:614959
HP:0000924	Abnormality of the skeletal system	23325	WASHC4	OMIM:615817
HP:0000924	Abnormality of the skeletal system	7156	TOP3A	OMIM:618097
HP:0000924	Abnormality of the skeletal system	3176	HNMT	OMIM:616739
HP:0000924	Abnormality of the skeletal system	3796	KIF2A	OMIM:615411
HP:0000924	Abnormality of the skeletal system	81689	ISCA1	OMIM:617613
HP:0000924	Abnormality of the skeletal system	64857	PLEKHG2	OMIM:616763
HP:0000924	Abnormality of the skeletal system	60528	ELAC2	OMIM:615440
HP:0000924	Abnormality of the skeletal system	3832	KIF11	ORPHA:2526
HP:0000924	Abnormality of the skeletal system	3832	KIF11	OMIM:152950
HP:0000924	Abnormality of the skeletal system	7991	TUSC3	OMIM:611093
HP:0000924	Abnormality of the skeletal system	8192	CLPP	OMIM:614129
HP:0000924	Abnormality of the skeletal system	8884	SLC5A6	OMIM:618973
HP:0000924	Abnormality of the skeletal system	55367	PIDD1	OMIM:619827
HP:0000924	Abnormality of the skeletal system	91942	NDUFAF2	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	51300	TIMMDC1	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4716	NDUFB10	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	284184	NDUFAF8	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	55863	TMEM126B	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4535	MT-ND1	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4537	MT-ND3	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4694	NDUFA1	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4720	NDUFS2	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4726	NDUFS6	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	126328	NDUFA11	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4709	NDUFB3	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	80224	NUBPL	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	374291	NDUFS7	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4700	NDUFA6	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4536	MT-ND2	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4715	NDUFB9	ORPHA:2609
HP:0000924	Abnormality of the skeletal system	4056	LTC4S	OMIM:614037
HP:0000924	Abnormality of the skeletal system	472	ATM	OMIM:208900
HP:0000924	Abnormality of the skeletal system	5610	EIF2AK2	OMIM:618877
HP:0000924	Abnormality of the skeletal system	3781	KCNN2	OMIM:619725
HP:0000924	Abnormality of the skeletal system	2590	GALNT2	OMIM:618885
HP:0000924	Abnormality of the skeletal system	5442	POLRMT	OMIM:619743
HP:0000924	Abnormality of the skeletal system	25930	PTPN23	OMIM:618890
HP:0000924	Abnormality of the skeletal system	339983	NAT8L	OMIM:614063
HP:0000924	Abnormality of the skeletal system	8879	SGPL1	OMIM:617575
HP:0000924	Abnormality of the skeletal system	8021	NUP214	OMIM:618426
HP:0000924	Abnormality of the skeletal system	51728	POLR3K	OMIM:619310
HP:0000924	Abnormality of the skeletal system	85476	GFM1	OMIM:609060
HP:0000924	Abnormality of the skeletal system	8869	ST3GAL5	OMIM:609056
HP:0000924	Abnormality of the skeletal system	1781	DYNC1I2	OMIM:618492
HP:0000924	Abnormality of the skeletal system	191	AHCY	ORPHA:88618
HP:0000924	Abnormality of the skeletal system	29926	GMPPA	ORPHA:869
HP:0000924	Abnormality of the skeletal system	10681	GNB5	OMIM:617182
HP:0000924	Abnormality of the skeletal system	79143	MBOAT7	OMIM:617188
HP:0000924	Abnormality of the skeletal system	4702	NDUFA8	OMIM:619272
HP:0000924	Abnormality of the skeletal system	81555	YIPF5	OMIM:619278
HP:0000924	Abnormality of the skeletal system	55532	SLC30A10	ORPHA:309854
HP:0000924	Abnormality of the skeletal system	36	ACADSB	OMIM:610006
HP:0000924	Abnormality of the skeletal system	197257	LDHD	OMIM:245450
HP:0000924	Abnormality of the skeletal system	375748	ERCC6L2	OMIM:615715
HP:0000924	Abnormality of the skeletal system	162417	NAGS	ORPHA:927
HP:0000924	Abnormality of the skeletal system	4173	MCM4	OMIM:609981
HP:0000924	Abnormality of the skeletal system	55187	VPS13D	OMIM:607317
HP:0000924	Abnormality of the skeletal system	5429	POLH	OMIM:278750
HP:0000924	Abnormality of the skeletal system	2058	EPRS1	OMIM:617951
HP:0000924	Abnormality of the skeletal system	20	ABCA2	OMIM:618808
HP:0000924	Abnormality of the skeletal system	1729	DIAPH1	OMIM:616632
HP:0000924	Abnormality of the skeletal system	27010	TPK1	OMIM:614458
HP:0000924	Abnormality of the skeletal system	2584	GALK1	ORPHA:79237
HP:0000924	Abnormality of the skeletal system	3704	ITPA	OMIM:616647
HP:0000924	Abnormality of the skeletal system	23397	NCAPH	OMIM:617985
HP:0000924	Abnormality of the skeletal system	25974	MMACHC	ORPHA:79282
HP:0000924	Abnormality of the skeletal system	25974	MMACHC	OMIM:277400
HP:0000924	Abnormality of the skeletal system	23001	WDFY3	OMIM:617520
HP:0000924	Abnormality of the skeletal system	79587	CARS2	OMIM:616672
HP:0000924	Abnormality of the skeletal system	5052	PRDX1	OMIM:277400
HP:0000924	Abnormality of the skeletal system	91452	ACBD5	OMIM:618863
HP:0000924	Abnormality of the skeletal system	51660	MPC1	OMIM:614741
HP:0000924	Abnormality of the skeletal system	4719	NDUFS1	OMIM:618226
HP:0000924	Abnormality of the skeletal system	22845	DOLK	ORPHA:91131
HP:0000924	Abnormality of the skeletal system	132158	GLYCTK	ORPHA:941
HP:0000924	Abnormality of the skeletal system	122553	TRAPPC6B	OMIM:617862
HP:0000924	Abnormality of the skeletal system	5859	QARS1	OMIM:615760
HP:0000924	Abnormality of the skeletal system	116461	TSEN15	OMIM:617026
HP:0000924	Abnormality of the skeletal system	116461	TSEN15	ORPHA:2524
HP:0000924	Abnormality of the skeletal system	79042	TSEN34	ORPHA:2524
HP:0000924	Abnormality of the skeletal system	80746	TSEN2	ORPHA:2524
HP:0000924	Abnormality of the skeletal system	80746	TSEN2	OMIM:612389
HP:0000924	Abnormality of the skeletal system	4190	MDH1	OMIM:618959
HP:0000924	Abnormality of the skeletal system	6334	SCN8A	OMIM:614558
HP:0000924	Abnormality of the skeletal system	50	ACO2	OMIM:614559
HP:0000924	Abnormality of the skeletal system	54862	CC2D1A	OMIM:608443
HP:0000924	Abnormality of the skeletal system	2891	GRIA2	OMIM:618917
HP:0000924	Abnormality of the skeletal system	63908	NAPB	OMIM:620033
HP:0000924	Abnormality of the skeletal system	440	ASNS	OMIM:615574
HP:0000924	Abnormality of the skeletal system	6709	SPTAN1	OMIM:613477
HP:0000924	Abnormality of the skeletal system	2806	GOT2	OMIM:618721
HP:0000924	Abnormality of the skeletal system	83480	PUS3	ORPHA:488627
HP:0000924	Abnormality of the skeletal system	55163	PNPO	OMIM:610090
HP:0000924	Abnormality of the skeletal system	10844	TUBGCP2	OMIM:618737
HP:0000924	Abnormality of the skeletal system	27445	PCLO	OMIM:608027
HP:0000924	Abnormality of the skeletal system	91801	ALKBH8	OMIM:618504
HP:0000924	Abnormality of the skeletal system	51111	KMT5B	OMIM:617788
HP:0000924	Abnormality of the skeletal system	10730	YME1L1	OMIM:617302
HP:0000924	Abnormality of the skeletal system	57680	CHD8	OMIM:615032
HP:0000924	Abnormality of the skeletal system	100128927	ZBTB42	OMIM:616248
HP:0000924	Abnormality of the skeletal system	51341	ZBTB7A	OMIM:619769
HP:0000924	Abnormality of the skeletal system	79944	L2HGDH	ORPHA:79314
HP:0000924	Abnormality of the skeletal system	3912	LAMB1	OMIM:615191
HP:0000924	Abnormality of the skeletal system	4723	NDUFV1	OMIM:618225
HP:0000924	Abnormality of the skeletal system	347733	TUBB2B	ORPHA:467166
HP:0000924	Abnormality of the skeletal system	220296	HEPACAM	OMIM:613925
HP:0000924	Abnormality of the skeletal system	220296	HEPACAM	OMIM:613926
HP:0000924	Abnormality of the skeletal system	220296	HEPACAM	OMIM:604004
HP:0000924	Abnormality of the skeletal system	10653	SPINT2	OMIM:270420
HP:0000924	Abnormality of the skeletal system	288	ANK3	ORPHA:356996
HP:0000924	Abnormality of the skeletal system	6853	SYN1	ORPHA:85294
HP:0000924	Abnormality of the skeletal system	6853	SYN1	OMIM:300491
HP:0000924	Abnormality of the skeletal system	777	CACNA1E	OMIM:618285
HP:0000924	Abnormality of the skeletal system	4781	NFIB	OMIM:618286
HP:0000924	Abnormality of the skeletal system	1496	CTNNA2	OMIM:618174
HP:0000924	Abnormality of the skeletal system	55294	FBXW7	OMIM:620012
HP:0000924	Abnormality of the skeletal system	3070	HELLS	ORPHA:2268
HP:0000924	Abnormality of the skeletal system	23590	PDSS1	OMIM:614651
HP:0000924	Abnormality of the skeletal system	6907	TBL1X	OMIM:301033
HP:0000924	Abnormality of the skeletal system	3747	KCNC2	OMIM:619913
HP:0000924	Abnormality of the skeletal system	23209	MLC1	OMIM:604004
HP:0000924	Abnormality of the skeletal system	37	ACADVL	ORPHA:26793
HP:0000924	Abnormality of the skeletal system	25915	NDUFAF3	OMIM:618240
HP:0000924	Abnormality of the skeletal system	6888	TALDO1	OMIM:606003
HP:0000924	Abnormality of the skeletal system	2108	ETFA	OMIM:231680
HP:0000924	Abnormality of the skeletal system	2109	ETFB	OMIM:231680
HP:0000924	Abnormality of the skeletal system	2110	ETFDH	OMIM:231680
HP:0000924	Abnormality of the skeletal system	7174	TPP2	OMIM:619220
HP:0000924	Abnormality of the skeletal system	7701	ZNF142	OMIM:618425
HP:0000924	Abnormality of the skeletal system	5700	PSMC1	OMIM:620071
HP:0000924	Abnormality of the skeletal system	9342	SNAP29	ORPHA:66631
HP:0000924	Abnormality of the skeletal system	23221	RHOBTB2	OMIM:618004
HP:0000924	Abnormality of the skeletal system	9997	SCO2	OMIM:604377
HP:0000924	Abnormality of the skeletal system	9320	TRIP12	OMIM:617752
HP:0000924	Abnormality of the skeletal system	10128	LRPPRC	OMIM:220111
HP:0000924	Abnormality of the skeletal system	2296	FOXC1	OMIM:602482
HP:0000924	Abnormality of the skeletal system	90161	HS6ST2	OMIM:301025
HP:0000924	Abnormality of the skeletal system	6898	TAT	ORPHA:28378
HP:0000924	Abnormality of the skeletal system	178	AGL	OMIM:232400
HP:0000924	Abnormality of the skeletal system	9130	FAM50A	OMIM:300261
HP:0000924	Abnormality of the skeletal system	318	NUDT2	OMIM:619844
HP:0000924	Abnormality of the skeletal system	129563	DIS3L2	ORPHA:2849
HP:0000924	Abnormality of the skeletal system	9915	ARNT2	OMIM:615926
HP:0000924	Abnormality of the skeletal system	51319	RSRC1	OMIM:618402
HP:0000924	Abnormality of the skeletal system	79184	BRCC3	ORPHA:280679
HP:0000924	Abnormality of the skeletal system	23265	EXOC7	OMIM:619072
HP:0000924	Abnormality of the skeletal system	9841	ZBTB24	OMIM:614069
HP:0000924	Abnormality of the skeletal system	147912	SIX5	ORPHA:107
HP:0000924	Abnormality of the skeletal system	9993	DGCR2	OMIM:192430
HP:0000924	Abnormality of the skeletal system	8220	ESS2	OMIM:192430
HP:0000924	Abnormality of the skeletal system	8214	DGCR6	OMIM:192430
HP:0000924	Abnormality of the skeletal system	54487	DGCR8	OMIM:192430
HP:0000924	Abnormality of the skeletal system	79791	FBXO31	OMIM:615979
HP:0000924	Abnormality of the skeletal system	51013	EXOSC1	OMIM:619304
HP:0000924	Abnormality of the skeletal system	30000	TNPO2	OMIM:619556
HP:0000924	Abnormality of the skeletal system	54517	PUS7	OMIM:618342
HP:0000924	Abnormality of the skeletal system	5915	RARB	OMIM:615524
HP:0000924	Abnormality of the skeletal system	9758	FRMPD4	OMIM:300983
HP:0000924	Abnormality of the skeletal system	8943	AP3D1	OMIM:617050
HP:0000924	Abnormality of the skeletal system	54796	BNC2	ORPHA:93110
HP:0000924	Abnormality of the skeletal system	80267	EDEM3	OMIM:619493
HP:0000924	Abnormality of the skeletal system	200205	IBA57	OMIM:615330
HP:0000924	Abnormality of the skeletal system	8516	ITGA8	OMIM:191830
HP:0000924	Abnormality of the skeletal system	3340	NDST1	OMIM:616116
HP:0000924	Abnormality of the skeletal system	54345	SOX18	OMIM:137940
HP:0000924	Abnormality of the skeletal system	388662	SLC6A17	ORPHA:457212
HP:0000924	Abnormality of the skeletal system	388662	SLC6A17	OMIM:616269
HP:0000924	Abnormality of the skeletal system	6901	TAFAZZIN	OMIM:302060
HP:0000924	Abnormality of the skeletal system	1460	CSNK2B	OMIM:618732
HP:0000924	Abnormality of the skeletal system	5308	PITX2	ORPHA:782
HP:0000924	Abnormality of the skeletal system	5308	PITX2	OMIM:180500
HP:0000924	Abnormality of the skeletal system	7314	UBB	ORPHA:99772
HP:0000924	Abnormality of the skeletal system	57822	GRHL3	ORPHA:99772
HP:0000924	Abnormality of the skeletal system	1739	DLG1	ORPHA:199306
HP:0000924	Abnormality of the skeletal system	5156	PDGFRA	ORPHA:199306
HP:0000924	Abnormality of the skeletal system	9411	ARHGAP29	ORPHA:199306
HP:0000924	Abnormality of the skeletal system	1748	DLX4	ORPHA:199306
HP:0000924	Abnormality of the skeletal system	199221	DZIP1L	ORPHA:731
HP:0000924	Abnormality of the skeletal system	5314	PKHD1	ORPHA:731
HP:0000924	Abnormality of the skeletal system	3211	HOXB1	OMIM:614744
HP:0000924	Abnormality of the skeletal system	64220	STRA6	OMIM:601186
HP:0000924	Abnormality of the skeletal system	4174	MCM5	OMIM:617564
HP:0000924	Abnormality of the skeletal system	1363	CPE	OMIM:619326
HP:0000924	Abnormality of the skeletal system	5236	PGM1	OMIM:614921
HP:0000924	Abnormality of the skeletal system	83483	PLVAP	OMIM:618183
HP:0000924	Abnormality of the skeletal system	2615	LRRC32	OMIM:619074
HP:0000924	Abnormality of the skeletal system	226	ALDOA	OMIM:611881
HP:0000924	Abnormality of the skeletal system	6182	MRPL12	OMIM:618951
HP:0000924	Abnormality of the skeletal system	7399	USH2A	ORPHA:231178
HP:0000924	Abnormality of the skeletal system	79955	PDZD7	ORPHA:231178
HP:0000924	Abnormality of the skeletal system	4647	MYO7A	ORPHA:231178
HP:0000924	Abnormality of the skeletal system	4647	MYO7A	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	25861	WHRN	ORPHA:231178
HP:0000924	Abnormality of the skeletal system	84059	ADGRV1	ORPHA:231178
HP:0000924	Abnormality of the skeletal system	9871	SEC24D	ORPHA:2050
HP:0000924	Abnormality of the skeletal system	5034	P4HB	ORPHA:2050
HP:0000924	Abnormality of the skeletal system	5189	PEX1	ORPHA:3220
HP:0000924	Abnormality of the skeletal system	5190	PEX6	ORPHA:3220
HP:0000924	Abnormality of the skeletal system	8517	IKBKG	ORPHA:464
HP:0000924	Abnormality of the skeletal system	84172	POLR1B	ORPHA:861
HP:0000924	Abnormality of the skeletal system	9533	POLR1C	ORPHA:861
HP:0000924	Abnormality of the skeletal system	51082	POLR1D	ORPHA:861
HP:0000924	Abnormality of the skeletal system	6949	TCOF1	ORPHA:861
HP:0000924	Abnormality of the skeletal system	63916	ELMO2	ORPHA:3019
HP:0000924	Abnormality of the skeletal system	26504	CNNM4	ORPHA:1873
HP:0000924	Abnormality of the skeletal system	224	ALDH3A2	ORPHA:816
HP:0000924	Abnormality of the skeletal system	54757	FAM20A	ORPHA:1031
HP:0000924	Abnormality of the skeletal system	5818	NECTIN1	ORPHA:3253
HP:0000924	Abnormality of the skeletal system	9076	CLDN1	ORPHA:59303
HP:0000924	Abnormality of the skeletal system	324	APC	ORPHA:3258
HP:0000924	Abnormality of the skeletal system	5339	PLEC	ORPHA:257
HP:0000924	Abnormality of the skeletal system	4763	NF1	ORPHA:139474
HP:0000924	Abnormality of the skeletal system	55315	SLC29A3	ORPHA:1782
HP:0000924	Abnormality of the skeletal system	2248	FGF3	ORPHA:2791
HP:0000924	Abnormality of the skeletal system	284111	SLC13A5	ORPHA:1946
HP:0000924	Abnormality of the skeletal system	79641	ROGDI	ORPHA:1946
HP:0000924	Abnormality of the skeletal system	10083	USH1C	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	124590	USH1G	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	83715	ESPN	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	10518	CIB2	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	65217	PCDH15	ORPHA:231169
HP:0000924	Abnormality of the skeletal system	84818	IL17RC	ORPHA:1334
HP:0000924	Abnormality of the skeletal system	64581	CLEC7A	ORPHA:1334
HP:0000924	Abnormality of the skeletal system	23765	IL17RA	ORPHA:1334
HP:0000924	Abnormality of the skeletal system	10758	TRAF3IP2	ORPHA:1334
HP:0000924	Abnormality of the skeletal system	112744	IL17F	ORPHA:1334
HP:0000924	Abnormality of the skeletal system	2720	GLB1	OMIM:253010
HP:0000924	Abnormality of the skeletal system	2588	GALNS	OMIM:253000
HP:0000924	Abnormality of the skeletal system	1834	DSPP	OMIM:125500
HP:0000924	Abnormality of the skeletal system	5251	PHEX	ORPHA:89936
HP:0000924	Abnormality of the skeletal system	5176	SERPINF1	OMIM:613982
HP:0000924	Abnormality of the skeletal system	871	SERPINH1	OMIM:613848
HP:0000924	Abnormality of the skeletal system	265	AMELX	OMIM:301200
HP:0000924	Abnormality of the skeletal system	93650	ACP4	OMIM:617297
HP:0000924	Abnormality of the skeletal system	84957	RELT	OMIM:618386
HP:0000924	Abnormality of the skeletal system	256764	WDR72	OMIM:613211
HP:0000924	Abnormality of the skeletal system	84876	ORAI1	OMIM:612782
HP:0000924	Abnormality of the skeletal system	8111	GPR68	OMIM:617217
HP:0000924	Abnormality of the skeletal system	10117	ENAM	OMIM:204650
HP:0000924	Abnormality of the skeletal system	10117	ENAM	OMIM:104500
HP:0000924	Abnormality of the skeletal system	6786	STIM1	OMIM:612783
HP:0000924	Abnormality of the skeletal system	286077	FAM83H	OMIM:130900
HP:0000924	Abnormality of the skeletal system	80320	SP6	OMIM:620104
HP:0000924	Abnormality of the skeletal system	55858	TMEM165	OMIM:614727
HP:0000924	Abnormality of the skeletal system	9313	MMP20	OMIM:612529
HP:0000924	Abnormality of the skeletal system	258	AMBN	OMIM:616270
HP:0000924	Abnormality of the skeletal system	149461	CLDN19	OMIM:248190
HP:0000924	Abnormality of the skeletal system	123041	SLC24A4	OMIM:615887
HP:0000924	Abnormality of the skeletal system	6304	SATB1	OMIM:619229
HP:0000924	Abnormality of the skeletal system	152816	ODAPH	OMIM:614832
HP:0000924	Abnormality of the skeletal system	9622	KLK4	OMIM:204700
HP:0000924	Abnormality of the skeletal system	1747	DLX3	OMIM:104510
HP:0000924	Abnormality of the skeletal system	401138	AMTN	OMIM:617607
HP:0000924	Abnormality of the skeletal system	1589	CYP21A2	OMIM:201910
HP:0000924	Abnormality of the skeletal system	6440	SFTPC	ORPHA:70587
HP:0000924	Abnormality of the skeletal system	21	ABCA3	ORPHA:70587
HP:0000924	Abnormality of the skeletal system	6439	SFTPB	ORPHA:70587
HP:0000924	Abnormality of the skeletal system	5978	REST	OMIM:617626
HP:0000924	Abnormality of the skeletal system	84466	MEGF10	OMIM:614399
HP:0000924	Abnormality of the skeletal system	55154	MSTO1	OMIM:617675
HP:0000924	Abnormality of the skeletal system	55154	MSTO1	ORPHA:502423
HP:0000924	Abnormality of the skeletal system	23545	ATP6V0A2	ORPHA:2834
HP:0000924	Abnormality of the skeletal system	23545	ATP6V0A2	OMIM:278250
HP:0000924	Abnormality of the skeletal system	93627	TBCK	ORPHA:488632
HP:0000924	Abnormality of the skeletal system	3476	IGBP1	ORPHA:52055
HP:0000924	Abnormality of the skeletal system	3476	IGBP1	OMIM:300472
HP:0000924	Abnormality of the skeletal system	84665	MYPN	OMIM:617336
HP:0000924	Abnormality of the skeletal system	84665	MYPN	ORPHA:171881
HP:0000924	Abnormality of the skeletal system	9091	PIGQ	OMIM:618548
HP:0000924	Abnormality of the skeletal system	5605	MAP2K2	OMIM:615280
HP:0000924	Abnormality of the skeletal system	5605	MAP2K2	ORPHA:1340
HP:0000924	Abnormality of the skeletal system	26173	INTS1	OMIM:618571
HP:0000924	Abnormality of the skeletal system	1523	CUX1	OMIM:618330
HP:0000924	Abnormality of the skeletal system	79912	PYROXD1	OMIM:617258
HP:0000924	Abnormality of the skeletal system	128869	PIGU	OMIM:618590
HP:0000924	Abnormality of the skeletal system	6567	SLC16A2	OMIM:300523
HP:0000924	Abnormality of the skeletal system	6567	SLC16A2	ORPHA:59
HP:0000924	Abnormality of the skeletal system	51434	ANAPC7	OMIM:619699
HP:0000924	Abnormality of the skeletal system	92255	LMBRD2	OMIM:619694
HP:0000924	Abnormality of the skeletal system	7170	TPM3	OMIM:609284
HP:0000924	Abnormality of the skeletal system	7170	TPM3	ORPHA:171881
HP:0000924	Abnormality of the skeletal system	7170	TPM3	ORPHA:2020
HP:0000924	Abnormality of the skeletal system	2010	EMD	OMIM:310300
HP:0000924	Abnormality of the skeletal system	2010	EMD	ORPHA:98863
HP:0000924	Abnormality of the skeletal system	2332	FMR1	OMIM:300624
HP:0000924	Abnormality of the skeletal system	51729	WBP11	OMIM:619227
HP:0000924	Abnormality of the skeletal system	23405	DICER1	OMIM:618272
HP:0000924	Abnormality of the skeletal system	9325	TRIP4	OMIM:617066
HP:0000924	Abnormality of the skeletal system	9325	TRIP4	ORPHA:486815
HP:0000924	Abnormality of the skeletal system	6872	TAF1	OMIM:300966
HP:0000924	Abnormality of the skeletal system	374354	NHLRC2	OMIM:618278
HP:0000924	Abnormality of the skeletal system	10220	GDF11	OMIM:619122
HP:0000924	Abnormality of the skeletal system	4617	MYF5	OMIM:618155
HP:0000924	Abnormality of the skeletal system	11014	KDELR2	OMIM:619131
HP:0000924	Abnormality of the skeletal system	10491	CRTAP	OMIM:610682
HP:0000924	Abnormality of the skeletal system	1073	CFL2	ORPHA:171436
HP:0000924	Abnormality of the skeletal system	4633	MYL2	ORPHA:2020
HP:0000924	Abnormality of the skeletal system	3679	ITGA7	ORPHA:2020
HP:0000924	Abnormality of the skeletal system	9200	HACD1	ORPHA:2020
HP:0000924	Abnormality of the skeletal system	8050	PDHX	OMIM:245349
HP:0000924	Abnormality of the skeletal system	79188	TMEM43	ORPHA:98853
HP:0000924	Abnormality of the skeletal system	23224	SYNE2	ORPHA:98853
HP:0000924	Abnormality of the skeletal system	9780	PIEZO1	OMIM:616843
HP:0000924	Abnormality of the skeletal system	55969	RAB5IF	OMIM:616994
HP:0000924	Abnormality of the skeletal system	5430	POLR2A	OMIM:618603
HP:0000924	Abnormality of the skeletal system	79875	THSD4	OMIM:619825
HP:0000924	Abnormality of the skeletal system	5352	PLOD2	OMIM:609220
HP:0000924	Abnormality of the skeletal system	64412	GZF1	OMIM:617662
HP:0000924	Abnormality of the skeletal system	4758	NEU1	ORPHA:812
HP:0000924	Abnormality of the skeletal system	84572	GNPTG	OMIM:252605
HP:0000924	Abnormality of the skeletal system	7345	UCHL1	OMIM:615491
HP:0000924	Abnormality of the skeletal system	55870	ASH1L	OMIM:617796
HP:0000924	Abnormality of the skeletal system	114034	TOE1	OMIM:614969
HP:0000924	Abnormality of the skeletal system	175	AGA	ORPHA:93
HP:0000924	Abnormality of the skeletal system	4311	MME	ORPHA:497764
HP:0000924	Abnormality of the skeletal system	4311	MME	OMIM:617018
HP:0000924	Abnormality of the skeletal system	55210	ATAD3A	ORPHA:496790
HP:0000924	Abnormality of the skeletal system	55210	ATAD3A	OMIM:617183
HP:0000924	Abnormality of the skeletal system	6558	SLC12A2	OMIM:619080
HP:0000924	Abnormality of the skeletal system	4982	TNFRSF11B	ORPHA:2801
HP:0000924	Abnormality of the skeletal system	256297	PTF1A	OMIM:609069
HP:0000924	Abnormality of the skeletal system	3039	HBA1	ORPHA:98791
HP:0000924	Abnormality of the skeletal system	3040	HBA2	ORPHA:98791
HP:0000924	Abnormality of the skeletal system	7343	UBTF	ORPHA:500180
HP:0000924	Abnormality of the skeletal system	60482	SLC5A7	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	1103	CHAT	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	6576	SLC25A1	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	6843	VAMP1	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	127833	SYT2	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	6572	SLC18A3	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	6616	SNAP25	ORPHA:98914
HP:0000924	Abnormality of the skeletal system	54676	GTPBP2	OMIM:617988
HP:0000924	Abnormality of the skeletal system	60681	FKBP10	OMIM:259450
HP:0000924	Abnormality of the skeletal system	203190	LGI3	OMIM:620007
HP:0000924	Abnormality of the skeletal system	129285	PPP1R21	OMIM:619383
HP:0000924	Abnormality of the skeletal system	2733	GLE1	ORPHA:1486
HP:0000924	Abnormality of the skeletal system	1131	CHRM3	ORPHA:2970
HP:0000924	Abnormality of the skeletal system	28514	DLL1	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	7050	TGIF1	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	4838	NODAL	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	7546	ZIC2	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	6491	STIL	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	2619	GAS1	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	84976	DISP1	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	8928	FOXH1	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	50937	CDON	ORPHA:280195
HP:0000924	Abnormality of the skeletal system	6911	TBX6	ORPHA:1797
HP:0000924	Abnormality of the skeletal system	267010	RNU12	OMIM:603116
HP:0000924	Abnormality of the skeletal system	8942	KYNU	OMIM:617661
HP:0000924	Abnormality of the skeletal system	1741	DLG3	OMIM:300850
HP:0000924	Abnormality of the skeletal system	23184	MESD	OMIM:618644
HP:0000924	Abnormality of the skeletal system	3675	ITGA3	OMIM:614748
HP:0000924	Abnormality of the skeletal system	2571	GAD1	OMIM:619124
HP:0000924	Abnormality of the skeletal system	390594	KBTBD13	ORPHA:171439
HP:0000924	Abnormality of the skeletal system	4927	NUP88	OMIM:618393
HP:0000924	Abnormality of the skeletal system	11041	B4GAT1	OMIM:615287
HP:0000924	Abnormality of the skeletal system	4036	LRP2	OMIM:222448
HP:0000924	Abnormality of the skeletal system	5826	ABCD4	OMIM:614857
HP:0000924	Abnormality of the skeletal system	6909	TBX2	OMIM:618223
HP:0000924	Abnormality of the skeletal system	1000	CDH2	OMIM:618929
HP:0000924	Abnormality of the skeletal system	10801	SEPTIN9	ORPHA:2901
HP:0000924	Abnormality of the skeletal system	2294	FOXF1	OMIM:265380
HP:0000924	Abnormality of the skeletal system	4990	SIX6	OMIM:206900
HP:0000924	Abnormality of the skeletal system	6657	SOX2	OMIM:206900
HP:0000924	Abnormality of the skeletal system	28234	SLCO1B3	OMIM:237450
HP:0000924	Abnormality of the skeletal system	10599	SLCO1B1	OMIM:237450
HP:0000924	Abnormality of the skeletal system	189	AGXT	ORPHA:93598
HP:0000924	Abnormality of the skeletal system	3229	HOXC13	OMIM:614931
HP:0000924	Abnormality of the skeletal system	5476	CTSA	ORPHA:351
HP:0000924	Abnormality of the skeletal system	26275	HIBCH	OMIM:250620
HP:0000924	Abnormality of the skeletal system	60561	RINT1	OMIM:618641
HP:0000924	Abnormality of the skeletal system	50485	SMARCAL1	ORPHA:1830
HP:0000924	Abnormality of the skeletal system	50485	SMARCAL1	OMIM:242900
HP:0000924	Abnormality of the skeletal system	100	ADA	OMIM:102700
HP:0000924	Abnormality of the skeletal system	55109	AGGF1	ORPHA:90308
HP:0000924	Abnormality of the skeletal system	486	FXYD2	OMIM:154020
HP:0000924	Abnormality of the skeletal system	6772	STAT1	OMIM:614162
HP:0000924	Abnormality of the skeletal system	6772	STAT1	ORPHA:391487
HP:0000924	Abnormality of the skeletal system	10043	TOM1	ORPHA:391487
HP:0000924	Abnormality of the skeletal system	80067	DCAF17	ORPHA:3464
HP:0000924	Abnormality of the skeletal system	79991	STN1	OMIM:617341
HP:0000924	Abnormality of the skeletal system	9247	GCM2	OMIM:617343
HP:0000924	Abnormality of the skeletal system	9247	GCM2	ORPHA:99879
HP:0000924	Abnormality of the skeletal system	2672	GFI1	ORPHA:486
HP:0000924	Abnormality of the skeletal system	6809	STX3	OMIM:619445
HP:0000924	Abnormality of the skeletal system	6809	STX3	OMIM:619446
HP:0000924	Abnormality of the skeletal system	57520	HECW2	OMIM:617268
HP:0000924	Abnormality of the skeletal system	551	AVP	OMIM:125700
HP:0000924	Abnormality of the skeletal system	55750	AGK	OMIM:212350
HP:0000924	Abnormality of the skeletal system	4547	MTTP	ORPHA:14
HP:0000924	Abnormality of the skeletal system	6557	SLC12A1	OMIM:601678
HP:0000924	Abnormality of the skeletal system	3758	KCNJ1	OMIM:241200
HP:0000924	Abnormality of the skeletal system	5205	ATP8B1	OMIM:211600
HP:0000924	Abnormality of the skeletal system	6514	SLC2A2	ORPHA:2088
HP:0000924	Abnormality of the skeletal system	6554	SLC10A1	OMIM:619256
HP:0000924	Abnormality of the skeletal system	4668	NAGA	OMIM:609241
HP:0000924	Abnormality of the skeletal system	4194	MDM4	OMIM:618849
HP:0000924	Abnormality of the skeletal system	2100	ESR2	OMIM:618187
HP:0000924	Abnormality of the skeletal system	80270	HSD3B7	ORPHA:79301
HP:0000924	Abnormality of the skeletal system	26012	NSMF	OMIM:614838
HP:0000924	Abnormality of the skeletal system	26012	NSMF	ORPHA:432
HP:0000924	Abnormality of the skeletal system	535	ATP6V0A1	OMIM:619971
HP:0000924	Abnormality of the skeletal system	2859	GPR35	ORPHA:171
HP:0000924	Abnormality of the skeletal system	10507	SEMA4D	ORPHA:171
HP:0000924	Abnormality of the skeletal system	4485	MST1	ORPHA:171
HP:0000924	Abnormality of the skeletal system	5095	PCCA	OMIM:606054
HP:0000924	Abnormality of the skeletal system	5096	PCCB	OMIM:606054
HP:0000924	Abnormality of the skeletal system	6845	VAMP7	ORPHA:251510
HP:0000924	Abnormality of the skeletal system	4214	MAP3K1	ORPHA:251510
HP:0000924	Abnormality of the skeletal system	58524	DMRT3	ORPHA:251510
HP:0000924	Abnormality of the skeletal system	190	NR0B1	ORPHA:251510
HP:0000924	Abnormality of the skeletal system	9056	SLC7A7	ORPHA:470
HP:0000924	Abnormality of the skeletal system	9056	SLC7A7	OMIM:222700
HP:0000924	Abnormality of the skeletal system	213	ALB	OMIM:616000
HP:0000924	Abnormality of the skeletal system	799	CALCR	OMIM:166710
HP:0000924	Abnormality of the skeletal system	8572	PDLIM4	OMIM:166710
HP:0000924	Abnormality of the skeletal system	6609	SMPD1	OMIM:257200
HP:0000924	Abnormality of the skeletal system	6609	SMPD1	ORPHA:77293
HP:0000924	Abnormality of the skeletal system	2947	GSTM3	ORPHA:586
HP:0000924	Abnormality of the skeletal system	2729	GCLC	ORPHA:586
HP:0000924	Abnormality of the skeletal system	1084	CEACAM3	ORPHA:586
HP:0000924	Abnormality of the skeletal system	6556	SLC11A1	ORPHA:586
HP:0000924	Abnormality of the skeletal system	51164	DCTN4	ORPHA:586
HP:0000924	Abnormality of the skeletal system	3783	KCNN4	ORPHA:586
HP:0000924	Abnormality of the skeletal system	1909	EDNRA	ORPHA:586
HP:0000924	Abnormality of the skeletal system	6550	SLC9A3	ORPHA:586
HP:0000924	Abnormality of the skeletal system	3162	HMOX1	ORPHA:586
HP:0000924	Abnormality of the skeletal system	115019	SLC26A9	ORPHA:586
HP:0000924	Abnormality of the skeletal system	11254	SLC6A14	ORPHA:586
HP:0000924	Abnormality of the skeletal system	5265	SERPINA1	ORPHA:586
HP:0000924	Abnormality of the skeletal system	22802	CLCA4	ORPHA:586
HP:0000924	Abnormality of the skeletal system	4680	CEACAM6	ORPHA:586
HP:0000924	Abnormality of the skeletal system	8733	GPAA1	ORPHA:529665
HP:0000924	Abnormality of the skeletal system	6714	SRC	OMIM:616937
HP:0000924	Abnormality of the skeletal system	5618	PRLR	ORPHA:397685
HP:0000924	Abnormality of the skeletal system	5836	PYGL	ORPHA:369
HP:0000924	Abnormality of the skeletal system	5256	PHKA2	ORPHA:264580
HP:0000924	Abnormality of the skeletal system	5261	PHKG2	ORPHA:264580
HP:0000924	Abnormality of the skeletal system	291	SLC25A4	ORPHA:254892
HP:0000924	Abnormality of the skeletal system	56652	TWNK	ORPHA:254892
HP:0000924	Abnormality of the skeletal system	11232	POLG2	ORPHA:254892
HP:0000924	Abnormality of the skeletal system	2796	GNRH1	ORPHA:432
HP:0000924	Abnormality of the skeletal system	2798	GNRHR	ORPHA:432
HP:0000924	Abnormality of the skeletal system	84634	KISS1R	ORPHA:432
HP:0000924	Abnormality of the skeletal system	6866	TAC3	ORPHA:432
HP:0000924	Abnormality of the skeletal system	3814	KISS1	ORPHA:432
HP:0000924	Abnormality of the skeletal system	2710	GK	OMIM:307030
HP:0000924	Abnormality of the skeletal system	5257	PHKB	ORPHA:79240
HP:0000924	Abnormality of the skeletal system	23395	LARS2	OMIM:615300
HP:0000924	Abnormality of the skeletal system	6689	SPIB	ORPHA:186
HP:0000924	Abnormality of the skeletal system	5450	POU2AF1	ORPHA:186
HP:0000924	Abnormality of the skeletal system	9966	TNFSF15	ORPHA:186
HP:0000924	Abnormality of the skeletal system	79258	MMEL1	ORPHA:186
HP:0000924	Abnormality of the skeletal system	79983	POF1B	OMIM:300604
HP:0000924	Abnormality of the skeletal system	55811	ADCY10	ORPHA:2197
HP:0000924	Abnormality of the skeletal system	3575	IL7R	ORPHA:39041
HP:0000924	Abnormality of the skeletal system	3561	IL2RG	ORPHA:39041
HP:0000924	Abnormality of the skeletal system	6650	CAPN15	OMIM:619318
HP:0000924	Abnormality of the skeletal system	79783	SUGCT	ORPHA:35706
HP:0000924	Abnormality of the skeletal system	8558	CDK10	OMIM:617694
HP:0000924	Abnormality of the skeletal system	23137	SMC5	OMIM:620185
HP:0000924	Abnormality of the skeletal system	57538	ALPK3	OMIM:618052
HP:0000924	Abnormality of the skeletal system	10617	STAMBP	OMIM:614261
HP:0000924	Abnormality of the skeletal system	28981	IFT81	OMIM:617895
HP:0000924	Abnormality of the skeletal system	392255	GDF6	OMIM:617898
HP:0000924	Abnormality of the skeletal system	5238	PGM3	ORPHA:443811
HP:0000924	Abnormality of the skeletal system	55733	HHAT	OMIM:600092
HP:0000924	Abnormality of the skeletal system	1836	SLC26A2	ORPHA:56304
HP:0000924	Abnormality of the skeletal system	1836	SLC26A2	OMIM:226900
HP:0000924	Abnormality of the skeletal system	1836	SLC26A2	ORPHA:93307
HP:0000924	Abnormality of the skeletal system	9786	KIAA0586	ORPHA:397715
HP:0000924	Abnormality of the skeletal system	114803	MYSM1	ORPHA:508542
HP:0000924	Abnormality of the skeletal system	149775	GNAS-AS1	OMIM:603233
HP:0000924	Abnormality of the skeletal system	8675	STX16	OMIM:603233
HP:0000924	Abnormality of the skeletal system	2778	GNAS	OMIM:603233
HP:0000924	Abnormality of the skeletal system	2778	GNAS	ORPHA:79443
HP:0000924	Abnormality of the skeletal system	2778	GNAS	ORPHA:79444
HP:0000924	Abnormality of the skeletal system	2778	GNAS	ORPHA:79445
HP:0000924	Abnormality of the skeletal system	2778	GNAS	OMIM:612463
HP:0000924	Abnormality of the skeletal system	2778	GNAS	OMIM:612462
HP:0000924	Abnormality of the skeletal system	2778	GNAS	ORPHA:2762
HP:0000924	Abnormality of the skeletal system	2778	GNAS	OMIM:103580
HP:0000924	Abnormality of the skeletal system	10026	PIGK	OMIM:618879
HP:0000924	Abnormality of the skeletal system	28960	DCPS	OMIM:616459
HP:0000924	Abnormality of the skeletal system	57231	SNX14	ORPHA:397709
HP:0000924	Abnormality of the skeletal system	57231	SNX14	OMIM:616354
HP:0000924	Abnormality of the skeletal system	1513	CTSK	OMIM:265800
HP:0000924	Abnormality of the skeletal system	1513	CTSK	ORPHA:763
HP:0000924	Abnormality of the skeletal system	818	CAMK2G	OMIM:618522
HP:0000924	Abnormality of the skeletal system	54453	RIN2	OMIM:613075
HP:0000924	Abnormality of the skeletal system	54453	RIN2	ORPHA:217335
HP:0000924	Abnormality of the skeletal system	170691	ADAMTS17	OMIM:613195
HP:0000924	Abnormality of the skeletal system	9469	CHST3	OMIM:143095
HP:0000924	Abnormality of the skeletal system	9469	CHST3	ORPHA:263463
HP:0000924	Abnormality of the skeletal system	7994	KAT6A	ORPHA:457193
HP:0000924	Abnormality of the skeletal system	7994	KAT6A	OMIM:616268
HP:0000924	Abnormality of the skeletal system	84100	ARL6	OMIM:209900
HP:0000924	Abnormality of the skeletal system	84100	ARL6	OMIM:600151
HP:0000924	Abnormality of the skeletal system	79140	CCDC28B	OMIM:209900
HP:0000924	Abnormality of the skeletal system	582	BBS1	OMIM:209900
HP:0000924	Abnormality of the skeletal system	8036	SHOC2	ORPHA:2701
HP:0000924	Abnormality of the skeletal system	5500	PPP1CB	ORPHA:2701
HP:0000924	Abnormality of the skeletal system	63901	FAM111A	OMIM:602361
HP:0000924	Abnormality of the skeletal system	81794	ADAMTS10	OMIM:277600
HP:0000924	Abnormality of the skeletal system	81794	ADAMTS10	ORPHA:3449
HP:0000924	Abnormality of the skeletal system	26160	IFT172	ORPHA:474
HP:0000924	Abnormality of the skeletal system	26160	IFT172	OMIM:615630
HP:0000924	Abnormality of the skeletal system	153241	CEP120	ORPHA:474
HP:0000924	Abnormality of the skeletal system	51626	DYNC2LI1	ORPHA:474
HP:0000924	Abnormality of the skeletal system	51626	DYNC2LI1	OMIM:617088
HP:0000924	Abnormality of the skeletal system	79809	TTC21B	ORPHA:474
HP:0000924	Abnormality of the skeletal system	79809	TTC21B	OMIM:613819
HP:0000924	Abnormality of the skeletal system	8493	PPM1D	OMIM:617450
HP:0000924	Abnormality of the skeletal system	56006	SMG9	OMIM:619995
HP:0000924	Abnormality of the skeletal system	23126	POGZ	OMIM:616364
HP:0000924	Abnormality of the skeletal system	27125	AFF4	OMIM:616368
HP:0000924	Abnormality of the skeletal system	27125	AFF4	ORPHA:444077
HP:0000924	Abnormality of the skeletal system	1311	COMP	OMIM:177170
HP:0000924	Abnormality of the skeletal system	1311	COMP	ORPHA:750
HP:0000924	Abnormality of the skeletal system	1311	COMP	ORPHA:93308
HP:0000924	Abnormality of the skeletal system	4247	MGAT2	ORPHA:79329
HP:0000924	Abnormality of the skeletal system	8314	BAP1	OMIM:619762
HP:0000924	Abnormality of the skeletal system	54928	BPNT2	OMIM:614078
HP:0000924	Abnormality of the skeletal system	3930	LBR	OMIM:215140
HP:0000924	Abnormality of the skeletal system	3930	LBR	OMIM:618019
HP:0000924	Abnormality of the skeletal system	3930	LBR	ORPHA:1426
HP:0000924	Abnormality of the skeletal system	4488	MSX2	OMIM:604757
HP:0000924	Abnormality of the skeletal system	5727	PTCH1	ORPHA:377
HP:0000924	Abnormality of the skeletal system	5727	PTCH1	OMIM:109400
HP:0000924	Abnormality of the skeletal system	8643	PTCH2	ORPHA:377
HP:0000924	Abnormality of the skeletal system	51684	SUFU	ORPHA:377
HP:0000924	Abnormality of the skeletal system	6603	SMARCD2	OMIM:617475
HP:0000924	Abnormality of the skeletal system	23219	FBXO28	OMIM:619777
HP:0000924	Abnormality of the skeletal system	51322	WAC	ORPHA:466950
HP:0000924	Abnormality of the skeletal system	29929	ALG6	ORPHA:79320
HP:0000924	Abnormality of the skeletal system	79053	ALG8	ORPHA:79325
HP:0000924	Abnormality of the skeletal system	257	ALX3	OMIM:136760
HP:0000924	Abnormality of the skeletal system	257	ALX3	ORPHA:391474
HP:0000924	Abnormality of the skeletal system	2879	GPX4	OMIM:250220
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	OMIM:132450
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	OMIM:619248
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	ORPHA:166011
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	OMIM:271700
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	OMIM:151210
HP:0000924	Abnormality of the skeletal system	1280	COL2A1	OMIM:184250
HP:0000924	Abnormality of the skeletal system	2623	GATA1	OMIM:190685
HP:0000924	Abnormality of the skeletal system	176	ACAN	OMIM:612813
HP:0000924	Abnormality of the skeletal system	176	ACAN	ORPHA:171866
HP:0000924	Abnormality of the skeletal system	176	ACAN	ORPHA:435804
HP:0000924	Abnormality of the skeletal system	176	ACAN	OMIM:165800
HP:0000924	Abnormality of the skeletal system	51114	ZDHHC9	ORPHA:776
HP:0000924	Abnormality of the skeletal system	65109	UPF3B	ORPHA:776
HP:0000924	Abnormality of the skeletal system	79068	FTO	OMIM:612938
HP:0000924	Abnormality of the skeletal system	56975	FAM20C	OMIM:259775
HP:0000924	Abnormality of the skeletal system	55249	YY1AP1	OMIM:602531
HP:0000924	Abnormality of the skeletal system	10940	POP1	OMIM:617396
HP:0000924	Abnormality of the skeletal system	51132	RLIM	OMIM:300978
HP:0000924	Abnormality of the skeletal system	4141	MARS1	OMIM:619692
HP:0000924	Abnormality of the skeletal system	1621	DBH	OMIM:223360
HP:0000924	Abnormality of the skeletal system	54496	PRMT7	OMIM:617157
HP:0000924	Abnormality of the skeletal system	54496	PRMT7	ORPHA:464288
HP:0000924	Abnormality of the skeletal system	2316	FLNA	ORPHA:88630
HP:0000924	Abnormality of the skeletal system	2316	FLNA	OMIM:300244
HP:0000924	Abnormality of the skeletal system	5077	PAX3	OMIM:148820
HP:0000924	Abnormality of the skeletal system	10483	SEC23B	ORPHA:201
HP:0000924	Abnormality of the skeletal system	6390	SDHB	ORPHA:201
HP:0000924	Abnormality of the skeletal system	6392	SDHD	ORPHA:201
HP:0000924	Abnormality of the skeletal system	6391	SDHC	ORPHA:201
HP:0000924	Abnormality of the skeletal system	205717	USF3	ORPHA:201
HP:0000924	Abnormality of the skeletal system	5290	PIK3CA	ORPHA:201
HP:0000924	Abnormality of the skeletal system	100144748	KLLN	ORPHA:201
HP:0000924	Abnormality of the skeletal system	633	BGN	OMIM:300989
HP:0000924	Abnormality of the skeletal system	633	BGN	OMIM:300106
HP:0000924	Abnormality of the skeletal system	10297	APC2	OMIM:617169
HP:0000924	Abnormality of the skeletal system	7403	KDM6A	OMIM:300867
HP:0000924	Abnormality of the skeletal system	5144	PDE4D	ORPHA:439822
HP:0000924	Abnormality of the skeletal system	5144	PDE4D	ORPHA:950
HP:0000924	Abnormality of the skeletal system	5144	PDE4D	OMIM:614613
HP:0000924	Abnormality of the skeletal system	5144	PDE4D	ORPHA:280651
HP:0000924	Abnormality of the skeletal system	6023	RMRP	OMIM:607095
HP:0000924	Abnormality of the skeletal system	5573	PRKAR1A	OMIM:101800
HP:0000924	Abnormality of the skeletal system	5573	PRKAR1A	ORPHA:950
HP:0000924	Abnormality of the skeletal system	5573	PRKAR1A	ORPHA:280651
HP:0000924	Abnormality of the skeletal system	64374	SIL1	ORPHA:559
HP:0000924	Abnormality of the skeletal system	51763	INPP5K	ORPHA:559
HP:0000924	Abnormality of the skeletal system	9851	KIAA0753	OMIM:619479
HP:0000924	Abnormality of the skeletal system	9851	KIAA0753	ORPHA:2754
HP:0000924	Abnormality of the skeletal system	5530	PPP3CA	OMIM:618265
HP:0000924	Abnormality of the skeletal system	10283	CWC27	OMIM:250410
HP:0000924	Abnormality of the skeletal system	10283	CWC27	ORPHA:166035
HP:0000924	Abnormality of the skeletal system	6513	SLC2A1	ORPHA:168577
HP:0000924	Abnormality of the skeletal system	9060	PAPSS2	OMIM:612847
HP:0000924	Abnormality of the skeletal system	4796	TONSL	OMIM:271510
HP:0000924	Abnormality of the skeletal system	4796	TONSL	ORPHA:93357
HP:0000924	Abnormality of the skeletal system	2131	EXT1	ORPHA:502
HP:0000924	Abnormality of the skeletal system	8720	MBTPS1	OMIM:618392
HP:0000924	Abnormality of the skeletal system	2077	ERF	OMIM:617180
HP:0000924	Abnormality of the skeletal system	5130	PCYT1A	ORPHA:85167
HP:0000924	Abnormality of the skeletal system	5130	PCYT1A	OMIM:608940
HP:0000924	Abnormality of the skeletal system	23169	SLC35D1	OMIM:269250
HP:0000924	Abnormality of the skeletal system	407975	MIR17HG	ORPHA:391646
HP:0000924	Abnormality of the skeletal system	5295	PIK3R1	ORPHA:3163
HP:0000924	Abnormality of the skeletal system	51371	POMP	OMIM:618048
HP:0000924	Abnormality of the skeletal system	57152	SLURP1	OMIM:248300
HP:0000924	Abnormality of the skeletal system	51594	NBAS	OMIM:614800
HP:0000924	Abnormality of the skeletal system	4000	LMNA	ORPHA:168796
HP:0000924	Abnormality of the skeletal system	4000	LMNA	OMIM:610140
HP:0000924	Abnormality of the skeletal system	9897	WASHC5	ORPHA:7
HP:0000924	Abnormality of the skeletal system	11011	TLK2	OMIM:618050
HP:0000924	Abnormality of the skeletal system	51109	RDH11	ORPHA:436245
HP:0000924	Abnormality of the skeletal system	25886	POC1A	OMIM:614813
HP:0000924	Abnormality of the skeletal system	4053	LTBP2	OMIM:614819
HP:0000924	Abnormality of the skeletal system	4053	LTBP2	ORPHA:3449
HP:0000924	Abnormality of the skeletal system	2690	GHR	ORPHA:633
HP:0000924	Abnormality of the skeletal system	9131	AIFM1	OMIM:300232
HP:0000924	Abnormality of the skeletal system	118429	ANTXR2	ORPHA:2176
HP:0000924	Abnormality of the skeletal system	5447	POR	ORPHA:95699
HP:0000924	Abnormality of the skeletal system	22858	CILK1	OMIM:612651
HP:0000924	Abnormality of the skeletal system	26153	KIF26A	OMIM:620156
HP:0000924	Abnormality of the skeletal system	56992	KIF15	ORPHA:261323
HP:0000924	Abnormality of the skeletal system	8289	ARID1A	OMIM:614607
HP:0000924	Abnormality of the skeletal system	4054	LTBP3	ORPHA:969
HP:0000924	Abnormality of the skeletal system	4054	LTBP3	OMIM:617809
HP:0000924	Abnormality of the skeletal system	222663	SCUBE3	OMIM:619184
HP:0000924	Abnormality of the skeletal system	6885	MAP3K7	OMIM:157800
HP:0000924	Abnormality of the skeletal system	6885	MAP3K7	ORPHA:3238
HP:0000924	Abnormality of the skeletal system	51021	MRPS16	OMIM:610498
HP:0000924	Abnormality of the skeletal system	1302	COL11A2	ORPHA:2021
HP:0000924	Abnormality of the skeletal system	1302	COL11A2	ORPHA:1427
HP:0000924	Abnormality of the skeletal system	4853	NOTCH2	ORPHA:955
HP:0000924	Abnormality of the skeletal system	2254	FGF9	ORPHA:3237
HP:0000924	Abnormality of the skeletal system	55343	SLC35C1	OMIM:266265
HP:0000924	Abnormality of the skeletal system	4089	SMAD4	OMIM:139210
HP:0000924	Abnormality of the skeletal system	4089	SMAD4	ORPHA:2588
HP:0000924	Abnormality of the skeletal system	9321	TRIP11	OMIM:184260
HP:0000924	Abnormality of the skeletal system	5159	PDGFRB	OMIM:601812
HP:0000924	Abnormality of the skeletal system	5139	PDE3A	ORPHA:1276
HP:0000924	Abnormality of the skeletal system	7048	TGFBR2	OMIM:610168
HP:0000924	Abnormality of the skeletal system	8195	MKKS	ORPHA:2473
HP:0000924	Abnormality of the skeletal system	4882	NPR2	ORPHA:40
HP:0000924	Abnormality of the skeletal system	50945	TBX22	ORPHA:921
HP:0000924	Abnormality of the skeletal system	585	BBS4	OMIM:615982
HP:0000924	Abnormality of the skeletal system	129880	BBS5	OMIM:615983
HP:0000924	Abnormality of the skeletal system	27241	BBS9	OMIM:615986
HP:0000924	Abnormality of the skeletal system	196528	ARID2	OMIM:617808
HP:0000924	Abnormality of the skeletal system	55081	IFT57	OMIM:617927
HP:0000924	Abnormality of the skeletal system	6938	TCF12	ORPHA:35099
HP:0000924	Abnormality of the skeletal system	6938	TCF12	OMIM:615314
HP:0000924	Abnormality of the skeletal system	7545	ZIC1	ORPHA:35099
HP:0000924	Abnormality of the skeletal system	92482	BBIP1	OMIM:615995
HP:0000924	Abnormality of the skeletal system	54585	LZTFL1	OMIM:615994
HP:0000924	Abnormality of the skeletal system	23291	FBXW11	OMIM:618914
HP:0000924	Abnormality of the skeletal system	5053	PAH	ORPHA:2209
HP:0000924	Abnormality of the skeletal system	101929726	MYMX	ORPHA:1358
HP:0000924	Abnormality of the skeletal system	114548	NLRP3	ORPHA:1451
HP:0000924	Abnormality of the skeletal system	9419	CRIPT	OMIM:615789
HP:0000924	Abnormality of the skeletal system	9361	LONP1	ORPHA:1458
HP:0000924	Abnormality of the skeletal system	8092	ALX1	ORPHA:306542
HP:0000924	Abnormality of the skeletal system	54361	WNT4	ORPHA:247768
HP:0000924	Abnormality of the skeletal system	55617	TASP1	OMIM:618950
HP:0000924	Abnormality of the skeletal system	5744	PTHLH	OMIM:613382
HP:0000924	Abnormality of the skeletal system	113246	C12orf57	OMIM:218340
HP:0000924	Abnormality of the skeletal system	5331	PLCB3	OMIM:618961
HP:0000924	Abnormality of the skeletal system	387	RHOA	OMIM:618727
HP:0000924	Abnormality of the skeletal system	10210	TOPORS	ORPHA:2754
HP:0000924	Abnormality of the skeletal system	5147	PDE6D	ORPHA:2754
HP:0000924	Abnormality of the skeletal system	317662	FAM149B1	ORPHA:2754
HP:0000924	Abnormality of the skeletal system	23404	EXOSC2	OMIM:617763
HP:0000924	Abnormality of the skeletal system	406932	MIR140	OMIM:618618
HP:0000924	Abnormality of the skeletal system	25871	NEPRO	OMIM:618853
HP:0000924	Abnormality of the skeletal system	255758	DYNLT2B	OMIM:617405
HP:0000924	Abnormality of the skeletal system	5604	MAP2K1	OMIM:163950
HP:0000924	Abnormality of the skeletal system	50964	SOST	OMIM:269500
HP:0000924	Abnormality of the skeletal system	84529	CDIN1	OMIM:615631
HP:0000924	Abnormality of the skeletal system	7681	MKRN3	OMIM:176270
HP:0000924	Abnormality of the skeletal system	3653	IPW	OMIM:176270
HP:0000924	Abnormality of the skeletal system	791114	PWRN1	OMIM:176270
HP:0000924	Abnormality of the skeletal system	100033413	SNORD116-1	OMIM:176270
HP:0000924	Abnormality of the skeletal system	8924	HERC2	OMIM:176270
HP:0000924	Abnormality of the skeletal system	145624	PWAR1	OMIM:176270
HP:0000924	Abnormality of the skeletal system	23742	NPAP1	OMIM:176270
HP:0000924	Abnormality of the skeletal system	338433	SNORD115-1	OMIM:176270
HP:0000924	Abnormality of the skeletal system	1723	DHODH	OMIM:263750
HP:0000924	Abnormality of the skeletal system	4552	MTRR	ORPHA:2169
HP:0000924	Abnormality of the skeletal system	2192	FBLN1	ORPHA:404451
HP:0000924	Abnormality of the skeletal system	8913	CACNA1G	OMIM:618087
HP:0000924	Abnormality of the skeletal system	50814	NSDHL	OMIM:308050
HP:0000924	Abnormality of the skeletal system	23389	MED13L	ORPHA:369891
HP:0000924	Abnormality of the skeletal system	8550	MAPKAPK5	OMIM:619869
HP:0000924	Abnormality of the skeletal system	79633	FAT4	OMIM:616006
HP:0000924	Abnormality of the skeletal system	79633	FAT4	ORPHA:314679
HP:0000924	Abnormality of the skeletal system	29957	SLC25A24	OMIM:612289
HP:0000924	Abnormality of the skeletal system	4659	PPP1R12A	OMIM:618820
HP:0000924	Abnormality of the skeletal system	6305	SBF1	OMIM:615284
HP:0000924	Abnormality of the skeletal system	8642	DCHS1	ORPHA:314679
HP:0000924	Abnormality of the skeletal system	57688	ZSWIM6	OMIM:603671
HP:0000924	Abnormality of the skeletal system	79989	IFT56	OMIM:619534
HP:0000924	Abnormality of the skeletal system	775	CACNA1C	OMIM:618447
HP:0000924	Abnormality of the skeletal system	8831	SYNGAP1	ORPHA:1942
HP:0000924	Abnormality of the skeletal system	1173	AP2M1	ORPHA:1942
HP:0000924	Abnormality of the skeletal system	6323	SCN1A	ORPHA:1942
HP:0000924	Abnormality of the skeletal system	1106	CHD2	ORPHA:1942
HP:0000924	Abnormality of the skeletal system	6529	SLC6A1	ORPHA:1942
HP:0000924	Abnormality of the skeletal system	3914	LAMB3	OMIM:226700
HP:0000924	Abnormality of the skeletal system	3909	LAMA3	OMIM:226700
HP:0000924	Abnormality of the skeletal system	3918	LAMC2	OMIM:226700
HP:0000924	Abnormality of the skeletal system	54101	RIPK4	OMIM:263650
HP:0000924	Abnormality of the skeletal system	92935	MARS2	OMIM:616430
HP:0000924	Abnormality of the skeletal system	146059	CDAN1	OMIM:224120
HP:0000924	Abnormality of the skeletal system	4038	LRP4	OMIM:212780
HP:0000924	Abnormality of the skeletal system	54806	AHI1	ORPHA:475
HP:0000924	Abnormality of the skeletal system	54806	AHI1	ORPHA:220493
HP:0000924	Abnormality of the skeletal system	200894	ARL13B	ORPHA:475
HP:0000924	Abnormality of the skeletal system	9731	CEP104	ORPHA:475
HP:0000924	Abnormality of the skeletal system	23247	KATNIP	ORPHA:475
HP:0000924	Abnormality of the skeletal system	219854	TMEM218	ORPHA:475
HP:0000924	Abnormality of the skeletal system	95681	CEP41	ORPHA:475
HP:0000924	Abnormality of the skeletal system	95681	CEP41	ORPHA:220493
HP:0000924	Abnormality of the skeletal system	10464	PIBF1	ORPHA:475
HP:0000924	Abnormality of the skeletal system	23116	TOGARAM1	ORPHA:475
HP:0000924	Abnormality of the skeletal system	25776	CBY1	ORPHA:475
HP:0000924	Abnormality of the skeletal system	403	ARL3	ORPHA:475
HP:0000924	Abnormality of the skeletal system	10682	EBP	ORPHA:401973
HP:0000924	Abnormality of the skeletal system	5626	PROP1	ORPHA:226307
HP:0000924	Abnormality of the skeletal system	89884	LHX4	ORPHA:226307
HP:0000924	Abnormality of the skeletal system	8022	LHX3	ORPHA:226307
HP:0000924	Abnormality of the skeletal system	5449	POU1F1	ORPHA:226307
HP:0000924	Abnormality of the skeletal system	8820	HESX1	ORPHA:226307
HP:0000924	Abnormality of the skeletal system	51	ACOX1	ORPHA:2971
HP:0000924	Abnormality of the skeletal system	7547	ZIC3	OMIM:314390
HP:0000924	Abnormality of the skeletal system	26154	ABCA12	ORPHA:457
HP:0000924	Abnormality of the skeletal system	8241	RBM10	ORPHA:2886
HP:0000924	Abnormality of the skeletal system	51524	TMEM138	ORPHA:2318
HP:0000924	Abnormality of the skeletal system	23090	ZNF423	ORPHA:2318
HP:0000924	Abnormality of the skeletal system	5566	PRKACA	ORPHA:289
HP:0000924	Abnormality of the skeletal system	2313	FLI1	ORPHA:2308
HP:0000924	Abnormality of the skeletal system	6309	SC5D	ORPHA:46059
HP:0000924	Abnormality of the skeletal system	6309	SC5D	OMIM:607330
HP:0000924	Abnormality of the skeletal system	894	CCND2	ORPHA:83473
HP:0000924	Abnormality of the skeletal system	894	CCND2	OMIM:615938
HP:0000924	Abnormality of the skeletal system	5296	PIK3R2	ORPHA:83473
HP:0000924	Abnormality of the skeletal system	10000	AKT3	ORPHA:83473
HP:0000924	Abnormality of the skeletal system	10000	AKT3	OMIM:615937
HP:0000924	Abnormality of the skeletal system	56623	INPP5E	OMIM:213300
HP:0000924	Abnormality of the skeletal system	56623	INPP5E	ORPHA:1454
HP:0000924	Abnormality of the skeletal system	55593	OTUD5	OMIM:301056
HP:0000924	Abnormality of the skeletal system	83479	DDX59	OMIM:174300
HP:0000924	Abnormality of the skeletal system	83479	DDX59	ORPHA:2919
HP:0000924	Abnormality of the skeletal system	51057	WDPCP	OMIM:217085
HP:0000924	Abnormality of the skeletal system	51057	WDPCP	ORPHA:110
HP:0000924	Abnormality of the skeletal system	285600	KIAA0825	OMIM:618498
HP:0000924	Abnormality of the skeletal system	26005	C2CD3	OMIM:615948
HP:0000924	Abnormality of the skeletal system	26005	C2CD3	ORPHA:434179
HP:0000924	Abnormality of the skeletal system	26040	SETBP1	OMIM:269150
HP:0000924	Abnormality of the skeletal system	11020	IFT27	ORPHA:110
HP:0000924	Abnormality of the skeletal system	49855	SCAPER	ORPHA:110
HP:0000924	Abnormality of the skeletal system	4867	NPHP1	ORPHA:110
HP:0000924	Abnormality of the skeletal system	84984	CEP19	ORPHA:110
HP:0000924	Abnormality of the skeletal system	22954	TRIM32	ORPHA:110
HP:0000924	Abnormality of the skeletal system	79738	BBS10	ORPHA:110
HP:0000924	Abnormality of the skeletal system	123016	TTC8	ORPHA:110
HP:0000924	Abnormality of the skeletal system	583	BBS2	ORPHA:110
HP:0000924	Abnormality of the skeletal system	583	BBS2	OMIM:615981
HP:0000924	Abnormality of the skeletal system	55212	BBS7	ORPHA:110
HP:0000924	Abnormality of the skeletal system	166379	BBS12	ORPHA:110
HP:0000924	Abnormality of the skeletal system	166379	BBS12	OMIM:615989
HP:0000924	Abnormality of the skeletal system	10806	SDCCAG8	ORPHA:110
HP:0000924	Abnormality of the skeletal system	157657	CFAP418	ORPHA:110
HP:0000924	Abnormality of the skeletal system	157657	CFAP418	OMIM:617406
HP:0000924	Abnormality of the skeletal system	80173	IFT74	ORPHA:110
HP:0000924	Abnormality of the skeletal system	79005	SCNM1	OMIM:620107
HP:0000924	Abnormality of the skeletal system	2736	GLI2	OMIM:610829
HP:0000924	Abnormality of the skeletal system	51360	MBTPS2	OMIM:308205
HP:0000924	Abnormality of the skeletal system	51360	MBTPS2	ORPHA:85284
HP:0000924	Abnormality of the skeletal system	80210	ARMC9	OMIM:617622
HP:0000924	Abnormality of the skeletal system	23288	IQCE	OMIM:617642
HP:0000924	Abnormality of the skeletal system	137392	CIBAR1	OMIM:618219
HP:0000924	Abnormality of the skeletal system	7700	ZNF141	OMIM:615226
HP:0000924	Abnormality of the skeletal system	4088	SMAD3	ORPHA:284984
HP:0000924	Abnormality of the skeletal system	4088	SMAD3	OMIM:613795
HP:0000924	Abnormality of the skeletal system	4088	SMAD3	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	875	CBS	ORPHA:394
HP:0000924	Abnormality of the skeletal system	875	CBS	OMIM:236200
HP:0000924	Abnormality of the skeletal system	25970	SH2B1	ORPHA:261222
HP:0000924	Abnormality of the skeletal system	199857	ALG14	OMIM:619036
HP:0000924	Abnormality of the skeletal system	8925	HERC1	OMIM:617011
HP:0000924	Abnormality of the skeletal system	8925	HERC1	ORPHA:457359
HP:0000924	Abnormality of the skeletal system	1075	CTSC	OMIM:245010
HP:0000924	Abnormality of the skeletal system	1075	CTSC	ORPHA:678
HP:0000924	Abnormality of the skeletal system	5351	PLOD1	OMIM:225400
HP:0000924	Abnormality of the skeletal system	8076	MFAP5	OMIM:616166
HP:0000924	Abnormality of the skeletal system	8076	MFAP5	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	80816	ASXL3	OMIM:615485
HP:0000924	Abnormality of the skeletal system	80816	ASXL3	ORPHA:352577
HP:0000924	Abnormality of the skeletal system	72	ACTG2	ORPHA:2604
HP:0000924	Abnormality of the skeletal system	30008	EFEMP2	OMIM:614437
HP:0000924	Abnormality of the skeletal system	79693	YRDC	OMIM:619609
HP:0000924	Abnormality of the skeletal system	1146	CHRNG	OMIM:265000
HP:0000924	Abnormality of the skeletal system	284058	KANSL1	ORPHA:363958
HP:0000924	Abnormality of the skeletal system	284058	KANSL1	ORPHA:363965
HP:0000924	Abnormality of the skeletal system	1272	CNTN1	OMIM:612540
HP:0000924	Abnormality of the skeletal system	29920	PYCR2	ORPHA:481152
HP:0000924	Abnormality of the skeletal system	29920	PYCR2	OMIM:616420
HP:0000924	Abnormality of the skeletal system	1312	COMT	ORPHA:567
HP:0000924	Abnormality of the skeletal system	221037	JMJD1C	ORPHA:567
HP:0000924	Abnormality of the skeletal system	2812	GP1BB	ORPHA:567
HP:0000924	Abnormality of the skeletal system	6239	RREB1	ORPHA:567
HP:0000924	Abnormality of the skeletal system	7290	HIRA	ORPHA:567
HP:0000924	Abnormality of the skeletal system	9632	SEC24C	ORPHA:567
HP:0000924	Abnormality of the skeletal system	7353	UFD1	ORPHA:567
HP:0000924	Abnormality of the skeletal system	421	ARVCF	ORPHA:567
HP:0000924	Abnormality of the skeletal system	444	ASPH	OMIM:601552
HP:0000924	Abnormality of the skeletal system	79576	NKAP	OMIM:301039
HP:0000924	Abnormality of the skeletal system	3188	HNRNPH2	OMIM:300986
HP:0000924	Abnormality of the skeletal system	23152	CIC	OMIM:617600
HP:0000924	Abnormality of the skeletal system	649	BMP1	OMIM:614856
HP:0000924	Abnormality of the skeletal system	165	AEBP1	ORPHA:536532
HP:0000924	Abnormality of the skeletal system	11285	B4GALT7	ORPHA:75496
HP:0000924	Abnormality of the skeletal system	11285	B4GALT7	OMIM:130070
HP:0000924	Abnormality of the skeletal system	10526	IPO8	OMIM:619472
HP:0000924	Abnormality of the skeletal system	10526	IPO8	ORPHA:60030
HP:0000924	Abnormality of the skeletal system	4534	MTM1	OMIM:310400
HP:0000924	Abnormality of the skeletal system	5184	PEPD	ORPHA:742
HP:0000924	Abnormality of the skeletal system	715	C1R	OMIM:130080
HP:0000924	Abnormality of the skeletal system	60676	PAPPA2	OMIM:619489
HP:0000924	Abnormality of the skeletal system	1742	DLG4	OMIM:618793
HP:0000924	Abnormality of the skeletal system	6605	SMARCE1	OMIM:616938
HP:0000924	Abnormality of the skeletal system	11107	PRDM5	ORPHA:90354
HP:0000924	Abnormality of the skeletal system	84627	ZNF469	ORPHA:90354
HP:0000924	Abnormality of the skeletal system	4677	NARS1	OMIM:619092
HP:0000924	Abnormality of the skeletal system	6651	SON	ORPHA:500150
HP:0000924	Abnormality of the skeletal system	2193	FARSA	OMIM:619013
HP:0000924	Abnormality of the skeletal system	4087	SMAD2	OMIM:619656
HP:0000924	Abnormality of the skeletal system	4087	SMAD2	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	29893	PSMC3IP	ORPHA:243
HP:0000924	Abnormality of the skeletal system	171568	POLR3H	ORPHA:243
HP:0000924	Abnormality of the skeletal system	2516	NR5A1	ORPHA:243
HP:0000924	Abnormality of the skeletal system	125150	ZSWIM7	ORPHA:243
HP:0000924	Abnormality of the skeletal system	9210	BMP15	ORPHA:243
HP:0000924	Abnormality of the skeletal system	23514	SPIDR	ORPHA:243
HP:0000924	Abnormality of the skeletal system	2492	FSHR	ORPHA:243
HP:0000924	Abnormality of the skeletal system	56945	MRPS22	ORPHA:243
HP:0000924	Abnormality of the skeletal system	646	BNC1	ORPHA:243
HP:0000924	Abnormality of the skeletal system	4883	NPR3	OMIM:619543
HP:0000924	Abnormality of the skeletal system	7043	TGFB3	OMIM:615582
HP:0000924	Abnormality of the skeletal system	7043	TGFB3	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	7046	TGFBR1	ORPHA:60030
HP:0000924	Abnormality of the skeletal system	7046	TGFBR1	OMIM:609192
HP:0000924	Abnormality of the skeletal system	7046	TGFBR1	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	56603	CYP26B1	OMIM:614416
HP:0000924	Abnormality of the skeletal system	7042	TGFB2	OMIM:614816
HP:0000924	Abnormality of the skeletal system	7042	TGFB2	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	4629	MYH11	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	4015	LOX	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	59	ACTA2	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	5592	PRKG1	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	2301	FOXE3	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	4144	MAT2A	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	23493	HEY2	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	4638	MYLK	ORPHA:91387
HP:0000924	Abnormality of the skeletal system	1593	CYP27A1	ORPHA:909
HP:0000924	Abnormality of the skeletal system	23400	ATP13A2	ORPHA:306674
HP:0000924	Abnormality of the skeletal system	134218	DNAJC21	ORPHA:811
HP:0000924	Abnormality of the skeletal system	79631	EFL1	ORPHA:811
HP:0000924	Abnormality of the skeletal system	51119	SBDS	ORPHA:811
HP:0000924	Abnormality of the skeletal system	6729	SRP54	ORPHA:811
HP:0000924	Abnormality of the skeletal system	6926	TBX3	ORPHA:3138
HP:0000924	Abnormality of the skeletal system	64840	PORCN	OMIM:305600
HP:0000924	Abnormality of the skeletal system	64840	PORCN	ORPHA:2092
HP:0000924	Abnormality of the skeletal system	5376	PMP22	OMIM:118300
HP:0000924	Abnormality of the skeletal system	5376	PMP22	OMIM:118220
HP:0000924	Abnormality of the skeletal system	5376	PMP22	ORPHA:90658
HP:0000924	Abnormality of the skeletal system	5376	PMP22	OMIM:145900
HP:0000924	Abnormality of the skeletal system	6910	TBX5	ORPHA:392
HP:0000924	Abnormality of the skeletal system	3094	HINT1	ORPHA:324442
HP:0000924	Abnormality of the skeletal system	22880	MORC2	OMIM:616688
HP:0000924	Abnormality of the skeletal system	1001	CDH3	OMIM:225280
HP:0000924	Abnormality of the skeletal system	8626	TP63	OMIM:604292
HP:0000924	Abnormality of the skeletal system	8626	TP63	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	8626	TP63	OMIM:103285
HP:0000924	Abnormality of the skeletal system	8626	TP63	OMIM:603543
HP:0000924	Abnormality of the skeletal system	8626	TP63	OMIM:605289
HP:0000924	Abnormality of the skeletal system	8626	TP63	ORPHA:1896
HP:0000924	Abnormality of the skeletal system	4047	LSS	ORPHA:2850
HP:0000924	Abnormality of the skeletal system	197	AHSG	ORPHA:2850
HP:0000924	Abnormality of the skeletal system	3694	ITGB6	ORPHA:2850
HP:0000924	Abnormality of the skeletal system	79581	SLC52A2	OMIM:614707
HP:0000924	Abnormality of the skeletal system	411	ARSB	OMIM:253200
HP:0000924	Abnormality of the skeletal system	9150	CTDP1	OMIM:604168
HP:0000924	Abnormality of the skeletal system	54332	GDAP1	OMIM:607831
HP:0000924	Abnormality of the skeletal system	54332	GDAP1	ORPHA:101097
HP:0000924	Abnormality of the skeletal system	56704	JPH1	OMIM:607831
HP:0000924	Abnormality of the skeletal system	51776	MAP3K20	OMIM:616890
HP:0000924	Abnormality of the skeletal system	1750	DLX6	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	7979	SEM1	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	8945	BTRC	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	58513	EPS15L1	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	6468	FBXW4	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	7480	WNT10B	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	7480	WNT10B	OMIM:225300
HP:0000924	Abnormality of the skeletal system	1749	DLX5	ORPHA:2440
HP:0000924	Abnormality of the skeletal system	1749	DLX5	OMIM:183600
HP:0000924	Abnormality of the skeletal system	1749	DLX5	OMIM:220600
HP:0000924	Abnormality of the skeletal system	1717	DHCR7	ORPHA:818
HP:0000924	Abnormality of the skeletal system	81846	SBF2	OMIM:604563
HP:0000924	Abnormality of the skeletal system	79158	GNPTAB	OMIM:252500
HP:0000924	Abnormality of the skeletal system	79158	GNPTAB	OMIM:252600
HP:0000924	Abnormality of the skeletal system	3516	RBPJ	ORPHA:974
HP:0000924	Abnormality of the skeletal system	4851	NOTCH1	ORPHA:974
HP:0000924	Abnormality of the skeletal system	57514	ARHGAP31	ORPHA:974
HP:0000924	Abnormality of the skeletal system	57572	DOCK6	ORPHA:974
HP:0000924	Abnormality of the skeletal system	285203	EOGT	ORPHA:974
HP:0000924	Abnormality of the skeletal system	54567	DLL4	ORPHA:974
HP:0000924	Abnormality of the skeletal system	8888	MCM3AP	OMIM:618124
HP:0000924	Abnormality of the skeletal system	4359	MPZ	OMIM:118200
HP:0000924	Abnormality of the skeletal system	4359	MPZ	OMIM:145900
HP:0000924	Abnormality of the skeletal system	3423	IDS	OMIM:309900
HP:0000924	Abnormality of the skeletal system	3664	IRF6	ORPHA:1300
HP:0000924	Abnormality of the skeletal system	374969	SVBP	OMIM:618569
HP:0000924	Abnormality of the skeletal system	3295	HSD17B4	OMIM:261515
HP:0000924	Abnormality of the skeletal system	7476	WNT7A	OMIM:276820
HP:0000924	Abnormality of the skeletal system	1509	CTSD	OMIM:610127
HP:0000924	Abnormality of the skeletal system	64359	NXN	ORPHA:1507
HP:0000924	Abnormality of the skeletal system	4920	ROR2	ORPHA:1507
HP:0000924	Abnormality of the skeletal system	26580	BSCL2	OMIM:270685
HP:0000924	Abnormality of the skeletal system	26580	BSCL2	ORPHA:100998
HP:0000924	Abnormality of the skeletal system	4313	MMP2	OMIM:259600
HP:0000924	Abnormality of the skeletal system	2260	FGFR1	ORPHA:2117
HP:0000924	Abnormality of the skeletal system	10397	NDRG1	ORPHA:99950
HP:0000924	Abnormality of the skeletal system	4747	NEFL	OMIM:617882
HP:0000924	Abnormality of the skeletal system	1959	EGR2	OMIM:145900
HP:0000924	Abnormality of the skeletal system	57716	PRX	OMIM:145900
HP:0000924	Abnormality of the skeletal system	2189	FANCG	OMIM:614082
HP:0000924	Abnormality of the skeletal system	2189	FANCG	ORPHA:84
HP:0000924	Abnormality of the skeletal system	80207	OPA3	ORPHA:67036
HP:0000924	Abnormality of the skeletal system	9158	FIBP	ORPHA:500095
HP:0000924	Abnormality of the skeletal system	9968	MED12	ORPHA:93932
HP:0000924	Abnormality of the skeletal system	8200	GDF5	ORPHA:2639
HP:0000924	Abnormality of the skeletal system	658	BMPR1B	ORPHA:2639
HP:0000924	Abnormality of the skeletal system	672	BRCA1	ORPHA:84
HP:0000924	Abnormality of the skeletal system	10459	MAD2L2	ORPHA:84
HP:0000924	Abnormality of the skeletal system	7516	XRCC2	ORPHA:84
HP:0000924	Abnormality of the skeletal system	29089	UBE2T	ORPHA:84
HP:0000924	Abnormality of the skeletal system	675	BRCA2	ORPHA:84
HP:0000924	Abnormality of the skeletal system	55120	FANCL	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2175	FANCA	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2187	FANCB	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2176	FANCC	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2178	FANCE	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2188	FANCF	ORPHA:84
HP:0000924	Abnormality of the skeletal system	5888	RAD51	ORPHA:84
HP:0000924	Abnormality of the skeletal system	5889	RAD51C	ORPHA:84
HP:0000924	Abnormality of the skeletal system	55159	RFWD3	ORPHA:84
HP:0000924	Abnormality of the skeletal system	83990	BRIP1	ORPHA:84
HP:0000924	Abnormality of the skeletal system	57697	FANCM	ORPHA:84
HP:0000924	Abnormality of the skeletal system	79728	PALB2	ORPHA:84
HP:0000924	Abnormality of the skeletal system	84464	SLX4	ORPHA:84
HP:0000924	Abnormality of the skeletal system	2072	ERCC4	ORPHA:84
HP:0000924	Abnormality of the skeletal system	55215	FANCI	ORPHA:84
HP:0000924	Abnormality of the skeletal system	64093	SMOC1	ORPHA:1106
HP:0000924	Abnormality of the skeletal system	2261	FGFR3	OMIM:620192
HP:0000924	Abnormality of the skeletal system	2261	FGFR3	ORPHA:2363
HP:0000924	Abnormality of the skeletal system	23111	SPART	ORPHA:101000
HP:0000924	Abnormality of the skeletal system	25942	SIN3A	ORPHA:94065
HP:0000924	Abnormality of the skeletal system	1193	CLIC2	ORPHA:324410
HP:0000924	Abnormality of the skeletal system	860	RUNX2	ORPHA:1452
HP:0000924	Abnormality of the skeletal system	2255	FGF10	ORPHA:2363
HP:0000924	Abnormality of the skeletal system	6469	SHH	ORPHA:93321
HP:0000924	Abnormality of the skeletal system	57167	SALL4	ORPHA:233
HP:0000924	Abnormality of the skeletal system	57167	SALL4	ORPHA:959
HP:0000924	Abnormality of the skeletal system	57167	SALL4	ORPHA:2307
HP:0000924	Abnormality of the skeletal system	9935	MAFB	ORPHA:233
HP:0000924	Abnormality of the skeletal system	1123	CHN1	ORPHA:233
HP:0000924	Abnormality of the skeletal system	2137	EXTL3	ORPHA:508533
HP:0000924	Abnormality of the skeletal system	22827	PUF60	ORPHA:508498
HP:0000924	Abnormality of the skeletal system	65250	CPLANE1	OMIM:277170
HP:0000924	Abnormality of the skeletal system	6608	SMO	OMIM:601707
HP:0000924	Abnormality of the skeletal system	6608	SMO	ORPHA:1553
HP:0000924	Abnormality of the skeletal system	4750	NEK1	OMIM:263520
HP:0000924	Abnormality of the skeletal system	2737	GLI3	OMIM:175700
HP:0000924	Abnormality of the skeletal system	2737	GLI3	ORPHA:380
HP:0000924	Abnormality of the skeletal system	2737	GLI3	OMIM:174200
HP:0000924	Abnormality of the skeletal system	64327	LMBR1	ORPHA:2378
HP:0000924	Abnormality of the skeletal system	64327	LMBR1	OMIM:174500
HP:0000924	Abnormality of the skeletal system	55027	HEATR3	OMIM:620072
HP:0000924	Abnormality of the skeletal system	6299	SALL1	OMIM:107480
HP:0000924	Abnormality of the skeletal system	6299	SALL1	ORPHA:857
HP:0000924	Abnormality of the skeletal system	55112	DYNC2I1	ORPHA:93271
HP:0000924	Abnormality of the skeletal system	57560	IFT80	ORPHA:93271
HP:0000924	Abnormality of the skeletal system	57539	WDR35	ORPHA:93271
HP:0000924	Abnormality of the skeletal system	79659	DYNC2H1	ORPHA:93271
HP:0000924	Abnormality of the skeletal system	89891	DYNC2I2	ORPHA:93271
HP:0000924	Abnormality of the skeletal system	374879	ZNF699	OMIM:619488
HP:0000924	Abnormality of the skeletal system	374654	KIF7	OMIM:200990
HP:0000924	Abnormality of the skeletal system	8318	CDC45	OMIM:617063
HP:0000924	Abnormality of the skeletal system	51339	DACT1	ORPHA:857
HP:0000924	Abnormality of the skeletal system	2177	FANCD2	OMIM:227646
HP:0000924	Abnormality of the skeletal system	727857	BHLHA9	ORPHA:3329
HP:0000924	Abnormality of the skeletal system	23133	PHF8	ORPHA:85287
HP:0000924	Abnormality of the skeletal system	8481	OFD1	ORPHA:2750
HP:0000924	Abnormality of the skeletal system	219844	HYLS1	OMIM:236680
HP:0000924	Abnormality of the skeletal system	26123	TCTN3	ORPHA:2753
HP:0000924	Abnormality of the skeletal system	26123	TCTN3	ORPHA:564
HP:0000924	Abnormality of the skeletal system	2697	GJA1	ORPHA:2710
HP:0000924	Abnormality of the skeletal system	3239	HOXD13	ORPHA:887
HP:0000924	Abnormality of the skeletal system	7020	TFAP2A	OMIM:113620
HP:0000924	Abnormality of the skeletal system	7020	TFAP2A	ORPHA:1297
HP:0000924	Abnormality of the skeletal system	84314	TMEM107	ORPHA:564
HP:0000924	Abnormality of the skeletal system	79867	TCTN2	ORPHA:564
HP:0000924	Abnormality of the skeletal system	80776	B9D2	ORPHA:564
HP:0000924	Abnormality of the skeletal system	79600	TCTN1	ORPHA:564
HP:0000924	Abnormality of the skeletal system	57096	RPGRIP1	ORPHA:564
HP:0000924	Abnormality of the skeletal system	79848	CSPP1	ORPHA:564
HP:0000924	Abnormality of the skeletal system	80184	CEP290	ORPHA:564
HP:0000924	Abnormality of the skeletal system	51259	TMEM216	ORPHA:564
HP:0000924	Abnormality of the skeletal system	57545	CC2D2A	ORPHA:564
HP:0000924	Abnormality of the skeletal system	79583	TMEM231	ORPHA:564
HP:0000924	Abnormality of the skeletal system	91147	TMEM67	ORPHA:564
HP:0000924	Abnormality of the skeletal system	79770	TXNDC15	ORPHA:564
HP:0000924	Abnormality of the skeletal system	27077	B9D1	ORPHA:564
HP:0000924	Abnormality of the skeletal system	23322	RPGRIP1L	ORPHA:564
HP:0000924	Abnormality of the skeletal system	54903	MKS1	ORPHA:564
HP:0000924	Abnormality of the skeletal system	65062	TMEM237	ORPHA:564
HP:0000924	Abnormality of the skeletal system	10815	CPLX1	ORPHA:280
HP:0000924	Abnormality of the skeletal system	10815	CPLX1	OMIM:194190
HP:0000924	Abnormality of the skeletal system	54872	PIGG	ORPHA:280
HP:0000924	Abnormality of the skeletal system	7469	NELFA	ORPHA:280
HP:0000924	Abnormality of the skeletal system	1487	CTBP1	ORPHA:280
HP:0000924	Abnormality of the skeletal system	1487	CTBP1	OMIM:194190
HP:0000924	Abnormality of the skeletal system	3954	LETM1	ORPHA:280
HP:0000924	Abnormality of the skeletal system	3954	LETM1	OMIM:194190
HP:0000924	Abnormality of the skeletal system	7468	NSD2	ORPHA:280
HP:0000924	Abnormality of the skeletal system	7468	NSD2	OMIM:194190
HP:0000924	Abnormality of the skeletal system	2735	GLI1	OMIM:174400
HP:0000924	Abnormality of the skeletal system	53834	FGFRL1	OMIM:194190
HP:0000924	Abnormality of the skeletal system	9343	EFTUD2	OMIM:610536
HP:0000924	Abnormality of the skeletal system	9343	EFTUD2	ORPHA:79113
HP:0000924	Abnormality of the skeletal system	2263	FGFR2	OMIM:101200
HP:0000924	Abnormality of the skeletal system	157570	ESCO2	OMIM:268300
HP:0000924	Abnormality of the skeletal system	9401	RECQL4	ORPHA:1225
HP:0000924	Abnormality of the skeletal system	25836	NIPBL	OMIM:122470
HP:0000924	Abnormality of the skeletal system	6154	RPL26	OMIM:614900
HP:0000924	Abnormality of the skeletal system	10262	SF3B4	ORPHA:1788
HP:0000924	Abnormality of the skeletal system	1802	DPH2	OMIM:620062
HP:0000924	Abnormality of the skeletal system	91949	COG7	OMIM:608779
HP:0000924	Abnormality of the skeletal system	91949	COG7	ORPHA:79333
HP:0000924	Abnormality of the skeletal system	27238	GPKOW	ORPHA:2570
HP:0000924	Abnormality of the skeletal system	23141	ANKLE2	OMIM:616681
HP:0000924	Abnormality of the skeletal system	29895	MYL11	OMIM:619110
HP:0000924	Abnormality of the skeletal system	5393	EXOSC9	OMIM:618065
HP:0000924	Abnormality of the skeletal system	1861	TOR1A	OMIM:618947
HP:0000924	Abnormality of the skeletal system	55627	SMPD4	OMIM:618622
HP:0000924	Abnormality of the skeletal system	6804	STX1A	ORPHA:904
HP:0000924	Abnormality of the skeletal system	7461	CLIP2	ORPHA:904
HP:0000924	Abnormality of the skeletal system	84277	DNAJC30	ORPHA:904
HP:0000924	Abnormality of the skeletal system	8468	FKBP6	ORPHA:904
HP:0000924	Abnormality of the skeletal system	5982	RFC2	ORPHA:904
HP:0000924	Abnormality of the skeletal system	2969	GTF2I	ORPHA:904
HP:0000924	Abnormality of the skeletal system	3984	LIMK1	ORPHA:904
HP:0000924	Abnormality of the skeletal system	9569	GTF2IRD1	ORPHA:904
HP:0000924	Abnormality of the skeletal system	155382	VPS37D	ORPHA:904
HP:0000924	Abnormality of the skeletal system	155368	METTL27	ORPHA:904
HP:0000924	Abnormality of the skeletal system	114049	BUD23	ORPHA:904
HP:0000924	Abnormality of the skeletal system	7458	EIF4H	ORPHA:904
HP:0000924	Abnormality of the skeletal system	84163	GTF2IRD2	ORPHA:904
HP:0000924	Abnormality of the skeletal system	9275	BCL7B	ORPHA:904
HP:0000924	Abnormality of the skeletal system	26608	TBL2	ORPHA:904
HP:0000924	Abnormality of the skeletal system	653361	NCF1	ORPHA:904
HP:0000924	Abnormality of the skeletal system	135886	TMEM270	ORPHA:904
HP:0000924	Abnormality of the skeletal system	51085	MLXIPL	ORPHA:904
HP:0000924	Abnormality of the skeletal system	9031	BAZ1B	ORPHA:904
HP:0000924	Abnormality of the skeletal system	2006	ELN	ORPHA:904
HP:0000924	Abnormality of the skeletal system	2006	ELN	ORPHA:90348
HP:0000924	Abnormality of the skeletal system	5832	ALDH18A1	OMIM:616603
HP:0000924	Abnormality of the skeletal system	5832	ALDH18A1	OMIM:219150
HP:0000924	Abnormality of the skeletal system	5832	ALDH18A1	ORPHA:90348
HP:0000924	Abnormality of the skeletal system	347734	SLC35B2	OMIM:620269
HP:0000924	Abnormality of the skeletal system	23345	SYNE1	ORPHA:319332
HP:0000924	Abnormality of the skeletal system	23345	SYNE1	OMIM:618484
HP:0000924	Abnormality of the skeletal system	84992	PIGY	OMIM:616809
HP:0000924	Abnormality of the skeletal system	1291	COL6A1	ORPHA:75840
HP:0000924	Abnormality of the skeletal system	1292	COL6A2	ORPHA:75840
HP:0000924	Abnormality of the skeletal system	1293	COL6A3	ORPHA:75840
HP:0000924	Abnormality of the skeletal system	9839	ZEB2	ORPHA:261537
HP:0000924	Abnormality of the skeletal system	9839	ZEB2	ORPHA:261552
HP:0000924	Abnormality of the skeletal system	215	ABCD1	ORPHA:388
HP:0000924	Abnormality of the skeletal system	5979	RET	ORPHA:388
HP:0000924	Abnormality of the skeletal system	2668	GDNF	ORPHA:388
HP:0000924	Abnormality of the skeletal system	6720	SREBF1	ORPHA:388
HP:0000924	Abnormality of the skeletal system	1908	EDN3	ORPHA:388
HP:0000924	Abnormality of the skeletal system	223117	SEMA3D	ORPHA:388
HP:0000924	Abnormality of the skeletal system	538	ATP7A	ORPHA:388
HP:0000924	Abnormality of the skeletal system	1910	EDNRB	ORPHA:388
HP:0000924	Abnormality of the skeletal system	10512	SEMA3C	ORPHA:388
HP:0000924	Abnormality of the skeletal system	2064	ERBB2	ORPHA:388
HP:0000924	Abnormality of the skeletal system	2065	ERBB3	ORPHA:388
HP:0000924	Abnormality of the skeletal system	4902	NRTN	ORPHA:388
HP:0000924	Abnormality of the skeletal system	10479	SLC9A6	OMIM:300243
HP:0000924	Abnormality of the skeletal system	10479	SLC9A6	ORPHA:85278
HP:0000924	Abnormality of the skeletal system	91754	NEK9	OMIM:617022
HP:0000924	Abnormality of the skeletal system	5649	RELN	ORPHA:89844
HP:0000924	Abnormality of the skeletal system	54820	NDE1	ORPHA:89844
HP:0000924	Abnormality of the skeletal system	6472	SHMT2	OMIM:619121
HP:0000924	Abnormality of the skeletal system	58	ACTA1	ORPHA:171430
HP:0000924	Abnormality of the skeletal system	4703	NEB	ORPHA:171430
HP:0000924	Abnormality of the skeletal system	4703	NEB	OMIM:619334
HP:0000924	Abnormality of the skeletal system	131377	KLHL40	ORPHA:171430
HP:0000924	Abnormality of the skeletal system	10324	KLHL41	ORPHA:171430
HP:0000924	Abnormality of the skeletal system	56203	LMOD3	ORPHA:171430
HP:0000924	Abnormality of the skeletal system	26227	PHGDH	OMIM:601815
HP:0000924	Abnormality of the skeletal system	26227	PHGDH	ORPHA:79351
HP:0000924	Abnormality of the skeletal system	84162	BLTP1	OMIM:617822
HP:0000924	Abnormality of the skeletal system	202018	TAPT1	OMIM:616897
HP:0000924	Abnormality of the skeletal system	2201	FBN2	OMIM:121050
HP:0000924	Abnormality of the skeletal system	91869	RFT1	OMIM:612015
HP:0000924	Abnormality of the skeletal system	2033	EP300	ORPHA:353284
HP:0000924	Abnormality of the skeletal system	4621	MYH3	OMIM:618436
HP:0000924	Abnormality of the skeletal system	4621	MYH3	OMIM:193700
HP:0000924	Abnormality of the skeletal system	4621	MYH3	ORPHA:1147
HP:0000924	Abnormality of the skeletal system	4621	MYH3	ORPHA:1146
HP:0000924	Abnormality of the skeletal system	3897	L1CAM	ORPHA:306617
HP:0000924	Abnormality of the skeletal system	3897	L1CAM	OMIM:303350
HP:0000924	Abnormality of the skeletal system	3897	L1CAM	OMIM:307000
HP:0000924	Abnormality of the skeletal system	3897	L1CAM	ORPHA:2182
HP:0000924	Abnormality of the skeletal system	388015	RTL1	ORPHA:96334
HP:0000924	Abnormality of the skeletal system	8788	DLK1	ORPHA:96334
HP:0000924	Abnormality of the skeletal system	55384	MEG3	ORPHA:96334
HP:0000924	Abnormality of the skeletal system	2067	ERCC1	OMIM:610758
HP:0000924	Abnormality of the skeletal system	9179	AP4M1	OMIM:612936
HP:0000924	Abnormality of the skeletal system	7169	TPM2	OMIM:108120
HP:0000924	Abnormality of the skeletal system	7169	TPM2	ORPHA:1147
HP:0000924	Abnormality of the skeletal system	7169	TPM2	ORPHA:1146
HP:0000924	Abnormality of the skeletal system	126792	B3GALT6	ORPHA:536467
HP:0000924	Abnormality of the skeletal system	50515	CHST11	OMIM:618167
HP:0000924	Abnormality of the skeletal system	79868	ALG13	ORPHA:324422
HP:0000924	Abnormality of the skeletal system	259232	NALCN	OMIM:616266
HP:0000924	Abnormality of the skeletal system	259232	NALCN	ORPHA:1147
HP:0000924	Abnormality of the skeletal system	259232	NALCN	ORPHA:1146
HP:0000924	Abnormality of the skeletal system	23483	TGDS	OMIM:616145
HP:0000924	Abnormality of the skeletal system	729920	CRPPA	OMIM:614643
HP:0000924	Abnormality of the skeletal system	7136	TNNI2	ORPHA:1147
HP:0000924	Abnormality of the skeletal system	7136	TNNI2	ORPHA:1146
HP:0000924	Abnormality of the skeletal system	10273	STUB1	ORPHA:412057
HP:0000924	Abnormality of the skeletal system	1387	CREBBP	ORPHA:353277
HP:0000924	Abnormality of the skeletal system	4604	MYBPC1	ORPHA:1146
HP:0000924	Abnormality of the skeletal system	10516	FBLN5	ORPHA:90348
HP:0000924	Abnormality of the skeletal system	81857	MED25	ORPHA:464738
HP:0000924	Abnormality of the skeletal system	57211	ADGRG6	OMIM:616503
HP:0000924	Abnormality of the skeletal system	9939	RBM8A	ORPHA:3320
HP:0000924	Abnormality of the skeletal system	9939	RBM8A	OMIM:274000
HP:0000924	Abnormality of the skeletal system	23299	BICD2	OMIM:618291
HP:0000924	Abnormality of the skeletal system	10195	ALG3	OMIM:601110
HP:0000924	Abnormality of the skeletal system	10943	MSL3	OMIM:301032
HP:0000924	Abnormality of the skeletal system	3977	LIFR	OMIM:601559
HP:0000924	Abnormality of the skeletal system	9427	ECEL1	OMIM:615065
HP:0000924	Abnormality of the skeletal system	6999	TDO2	OMIM:600627
HP:0000924	Abnormality of the skeletal system	84896	ATAD1	OMIM:618011
HP:0000924	Abnormality of the skeletal system	2036	EPB41L1	OMIM:614257
HP:0000924	Abnormality of the skeletal system	51002	TPRKB	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	84942	WDR73	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	55644	OSGEP	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	57122	NUP107	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	10785	WDR4	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	55746	NUP133	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	8270	LAGE3	ORPHA:2065
HP:0000924	Abnormality of the skeletal system	8367	H4C5	OMIM:619950
HP:0000924	Abnormality of the skeletal system	9853	RUSC2	OMIM:617773
HP:0000924	Abnormality of the skeletal system	23019	CNOT1	OMIM:619033
HP:0000924	Abnormality of the skeletal system	26128	KIFBP	OMIM:609460
HP:0000924	Abnormality of the skeletal system	2972	BRF1	OMIM:616202
HP:0000924	Abnormality of the skeletal system	2972	BRF1	ORPHA:444072
HP:0000924	Abnormality of the skeletal system	56916	SMARCAD1	OMIM:129200
HP:0000924	Abnormality of the skeletal system	56916	SMARCAD1	OMIM:181600
HP:0000924	Abnormality of the skeletal system	9578	CDC42BPB	OMIM:619841
HP:0000924	Abnormality of the skeletal system	3020	H3-3A	OMIM:619720
HP:0000924	Abnormality of the skeletal system	170302	ARX	OMIM:300004
HP:0000924	Abnormality of the skeletal system	3021	H3-3B	OMIM:619721
HP:0000924	Abnormality of the skeletal system	10300	KATNB1	OMIM:616212
HP:0000924	Abnormality of the skeletal system	2624	GATA2	OMIM:614038
HP:0000924	Abnormality of the skeletal system	55904	KMT2E	OMIM:618512
HP:0000924	Abnormality of the skeletal system	10978	CLP1	OMIM:615803
HP:0000924	Abnormality of the skeletal system	55650	PIGV	OMIM:239300
HP:0000924	Abnormality of the skeletal system	6335	SCN9A	ORPHA:970
HP:0000924	Abnormality of the skeletal system	65125	WNK1	ORPHA:970
HP:0000924	Abnormality of the skeletal system	54463	RETREG1	ORPHA:970
HP:0000924	Abnormality of the skeletal system	547	KIF1A	ORPHA:970
HP:0000924	Abnormality of the skeletal system	547	KIF1A	ORPHA:2836
HP:0000924	Abnormality of the skeletal system	6595	SMARCA2	OMIM:619293
HP:0000924	Abnormality of the skeletal system	80204	FBXO11	OMIM:618089
HP:0000924	Abnormality of the skeletal system	113189	CHST14	ORPHA:2953
HP:0000924	Abnormality of the skeletal system	29940	DSE	ORPHA:2953
HP:0000924	Abnormality of the skeletal system	1889	ECE1	OMIM:613870
HP:0000924	Abnormality of the skeletal system	9326	ZNHIT3	ORPHA:2836
HP:0000924	Abnormality of the skeletal system	9326	ZNHIT3	OMIM:260565
HP:0000924	Abnormality of the skeletal system	2770	GNAI1	OMIM:619854
HP:0000924	Abnormality of the skeletal system	83550	GPR101	ORPHA:963
HP:0000924	Abnormality of the skeletal system	9049	AIP	ORPHA:963
HP:0000924	Abnormality of the skeletal system	157680	VPS13B	OMIM:216550
HP:0000924	Abnormality of the skeletal system	157680	VPS13B	ORPHA:193
HP:0000924	Abnormality of the skeletal system	2626	GATA4	ORPHA:251071
HP:0000924	Abnormality of the skeletal system	84823	LMNB2	OMIM:619180
HP:0000924	Abnormality of the skeletal system	9896	FIG4	ORPHA:3472
HP:0000924	Abnormality of the skeletal system	9896	FIG4	OMIM:216340
HP:0000924	Abnormality of the skeletal system	55697	VAC14	ORPHA:3472
HP:0000924	Abnormality of the skeletal system	1656	DDX6	OMIM:618653
HP:0000924	Abnormality of the skeletal system	4297	KMT2A	ORPHA:319182
HP:0000924	Abnormality of the skeletal system	4297	KMT2A	OMIM:605130
HP:0000924	Abnormality of the skeletal system	57178	ZMIZ1	OMIM:618659
HP:0000924	Abnormality of the skeletal system	6792	CDKL5	OMIM:300672
HP:0000924	Abnormality of the skeletal system	7025	NR2F1	ORPHA:401777
HP:0000924	Abnormality of the skeletal system	7025	NR2F1	OMIM:615722
HP:0000924	Abnormality of the skeletal system	253738	EBF3	OMIM:617330
HP:0000924	Abnormality of the skeletal system	55699	IARS2	OMIM:616007
HP:0000924	Abnormality of the skeletal system	8239	USP9X	ORPHA:480880
HP:0000924	Abnormality of the skeletal system	8239	USP9X	OMIM:300968
HP:0000924	Abnormality of the skeletal system	285175	UNC80	OMIM:616801
HP:0000924	Abnormality of the skeletal system	79753	SNIP1	OMIM:614501
HP:0000924	Abnormality of the skeletal system	6134	RPL10	ORPHA:459070
HP:0000924	Abnormality of the skeletal system	6134	RPL10	OMIM:300998
HP:0000924	Abnormality of the skeletal system	6134	RPL10	ORPHA:435938
HP:0000924	Abnormality of the skeletal system	1859	DYRK1A	ORPHA:464311
HP:0000924	Abnormality of the skeletal system	1859	DYRK1A	ORPHA:268261
HP:0000924	Abnormality of the skeletal system	1303	COL12A1	ORPHA:536516
HP:0000924	Abnormality of the skeletal system	51611	DPH5	OMIM:620070
HP:0000924	Abnormality of the skeletal system	79813	EHMT1	ORPHA:261652
HP:0000924	Abnormality of the skeletal system	58508	KMT2C	ORPHA:261652
HP:0000924	Abnormality of the skeletal system	4094	MAF	ORPHA:1272
HP:0000924	Abnormality of the skeletal system	4094	MAF	OMIM:601088
HP:0000924	Abnormality of the skeletal system	7750	ZMYM2	OMIM:619522
HP:0000924	Abnormality of the skeletal system	5594	MAPK1	OMIM:619087
HP:0000924	Abnormality of the skeletal system	4849	CNOT3	OMIM:618672
HP:0000924	Abnormality of the skeletal system	6942	TCF20	OMIM:618430
HP:0000924	Abnormality of the skeletal system	81887	LAS1L	ORPHA:3459
HP:0000924	Abnormality of the skeletal system	81887	LAS1L	OMIM:309585
HP:0000924	Abnormality of the skeletal system	55869	HDAC8	ORPHA:3459
HP:0000924	Abnormality of the skeletal system	7140	TNNT3	OMIM:618435
HP:0000924	Abnormality of the skeletal system	6925	TCF4	OMIM:610954
HP:0000924	Abnormality of the skeletal system	6925	TCF4	ORPHA:2896
HP:0000924	Abnormality of the skeletal system	7030	TFE3	OMIM:301066
HP:0000924	Abnormality of the skeletal system	546	ATRX	OMIM:309580
HP:0000924	Abnormality of the skeletal system	546	ATRX	OMIM:301040
HP:0000924	Abnormality of the skeletal system	84295	PHF6	ORPHA:127
HP:0000924	Abnormality of the skeletal system	84295	PHF6	OMIM:301900
HP:0000924	Abnormality of the skeletal system	91252	SLC39A13	ORPHA:157965
HP:0000924	Abnormality of the skeletal system	91252	SLC39A13	OMIM:612350
HP:0000924	Abnormality of the skeletal system	171023	ASXL1	OMIM:605039
HP:0000924	Abnormality of the skeletal system	55023	PHIP	ORPHA:589905
HP:0000924	Abnormality of the skeletal system	55023	PHIP	OMIM:617991
HP:0000924	Abnormality of the skeletal system	22907	DHX30	OMIM:617804
HP:0000924	Abnormality of the skeletal system	9230	RAB11B	OMIM:617807
HP:0000924	Abnormality of the skeletal system	5277	PIGA	OMIM:301072
HP:0000924	Abnormality of the skeletal system	389827	MYMK	OMIM:254940
HP:0000924	Abnormality of the skeletal system	10075	HUWE1	OMIM:309590
HP:0000924	Abnormality of the skeletal system	9488	PIGB	OMIM:618580
HP:0000924	Abnormality of the skeletal system	8243	SMC1A	OMIM:301044
HP:0000924	Abnormality of the skeletal system	23013	SPEN	OMIM:619312
HP:0000924	Abnormality of the skeletal system	56896	DPYSL5	OMIM:619435
HP:0000924	Abnormality of the skeletal system	9698	PUM1	OMIM:617931
HP:0000924	Abnormality of the skeletal system	23394	ADNP	OMIM:615873
HP:0000924	Abnormality of the skeletal system	23028	KDM1A	OMIM:616728
HP:0000924	Abnormality of the skeletal system	23028	KDM1A	ORPHA:477993
HP:0000924	Abnormality of the skeletal system	5575	PRKAR1B	OMIM:619680
HP:0000924	Abnormality of the skeletal system	91179	SCARF2	OMIM:600920
HP:0000924	Abnormality of the skeletal system	6492	SIM1	ORPHA:171829
HP:0000924	Abnormality of the skeletal system	2782	GNB1	OMIM:616973
HP:0000924	Abnormality of the skeletal system	4953	ODC1	ORPHA:544488
HP:0000924	Abnormality of the skeletal system	998	CDC42	OMIM:616737
HP:0000924	Abnormality of the skeletal system	998	CDC42	ORPHA:487796
HP:0000924	Abnormality of the skeletal system	3097	HIVEP2	OMIM:616977
HP:0000924	Abnormality of the skeletal system	10982	MAPRE2	OMIM:616734
HP:0000924	Abnormality of the skeletal system	4131	MAP1B	OMIM:618918
HP:0000924	Abnormality of the skeletal system	56915	EXOSC5	OMIM:619576
HP:0000924	Abnormality of the skeletal system	10588	MTHFS	OMIM:618367
HP:0000924	Abnormality of the skeletal system	63035	BCORL1	OMIM:301029
HP:0000924	Abnormality of the skeletal system	10265	IRX5	OMIM:611174
HP:0000924	Abnormality of the skeletal system	1108	CHD4	OMIM:617159
HP:0000924	Abnormality of the skeletal system	91137	SLC25A46	OMIM:616505
HP:0000924	Abnormality of the skeletal system	8604	SLC25A12	OMIM:612949
HP:0000924	Abnormality of the skeletal system	7703	PCGF2	OMIM:618371
HP:0000924	Abnormality of the skeletal system	83696	TRAPPC9	ORPHA:352530
HP:0000924	Abnormality of the skeletal system	92949	ADAMTSL1	ORPHA:521445
HP:0000924	Abnormality of the skeletal system	54551	MAGEL2	OMIM:615547
HP:0000924	Abnormality of the skeletal system	2707	GJB3	ORPHA:317
HP:0000924	Abnormality of the skeletal system	2531	KDSR	ORPHA:317
HP:0000924	Abnormality of the skeletal system	127534	GJB4	ORPHA:317
HP:0000924	Abnormality of the skeletal system	9244	CRLF1	OMIM:272430
HP:0000924	Abnormality of the skeletal system	8812	CCNK	OMIM:618147
HP:0000924	Abnormality of the skeletal system	112858	TP53RK	OMIM:617730
HP:0000924	Abnormality of the skeletal system	7204	TRIO	OMIM:618825
HP:0000924	Abnormality of the skeletal system	7204	TRIO	OMIM:617061
HP:0000924	Abnormality of the skeletal system	7204	TRIO	ORPHA:476126
HP:0000924	Abnormality of the skeletal system	9894	TELO2	ORPHA:488642
HP:0000924	Abnormality of the skeletal system	80036	TRPM3	OMIM:620224
HP:0000924	Abnormality of the skeletal system	8936	WASF1	OMIM:618707
HP:0000924	Abnormality of the skeletal system	8405	SPOP	OMIM:618829
HP:0000924	Abnormality of the skeletal system	23630	KCNE5	ORPHA:86818
HP:0000924	Abnormality of the skeletal system	2182	ACSL4	ORPHA:86818
HP:0000924	Abnormality of the skeletal system	9949	AMMECR1	ORPHA:86818
HP:0000924	Abnormality of the skeletal system	11198	SUPT16H	OMIM:619480
HP:0000924	Abnormality of the skeletal system	23556	PIGN	ORPHA:280633
HP:0000924	Abnormality of the skeletal system	23067	SETD1B	OMIM:619000
HP:0000924	Abnormality of the skeletal system	23233	EXOC6B	OMIM:618395
HP:0000924	Abnormality of the skeletal system	5075	PAX1	OMIM:615560
HP:0000924	Abnormality of the skeletal system	55704	CCDC88A	OMIM:617507
HP:0000924	Abnormality of the skeletal system	1376	CPT2	OMIM:608836
HP:0000924	Abnormality of the skeletal system	8242	KDM5C	ORPHA:85279
HP:0000924	Abnormality of the skeletal system	1315	COPB1	OMIM:619255
HP:0000924	Abnormality of the skeletal system	51317	PHF21A	OMIM:618725
HP:0000924	Abnormality of the skeletal system	1968	EIF2S3	ORPHA:85282
HP:0000924	Abnormality of the skeletal system	5557	PRIM1	OMIM:620005
HP:0000924	Abnormality of the skeletal system	1795	DOCK3	OMIM:618292
HP:0000924	Abnormality of the skeletal system	3636	INPPL1	ORPHA:2746
HP:0000924	Abnormality of the skeletal system	4654	MYOD1	OMIM:618975
HP:0000924	Abnormality of the skeletal system	11342	RNF13	ORPHA:544503
HP:0000924	Abnormality of the skeletal system	9990	SLC12A6	OMIM:218000
HP:0000924	Abnormality of the skeletal system	6197	RPS6KA3	OMIM:303600
HP:0000924	Abnormality of the skeletal system	9791	PTDSS1	OMIM:151050
HP:0000924	Abnormality of the skeletal system	2245	FGD1	OMIM:305400
HP:0000924	Abnormality of the skeletal system	9759	HDAC4	OMIM:619797
HP:0000924	Abnormality of the skeletal system	3756	KCNH1	OMIM:135500
HP:0000924	Abnormality of the skeletal system	57479	PRR12	OMIM:619539
HP:0000924	Abnormality of the skeletal system	6611	SMS	OMIM:309583
HP:0000924	Abnormality of the skeletal system	673	BRAF	OMIM:115150
HP:0000924	Abnormality of the skeletal system	91461	PKDCC	OMIM:618821
HP:0000924	Abnormality of the skeletal system	92344	GORAB	OMIM:231070
HP:0000924	Abnormality of the skeletal system	54499	TMCO1	OMIM:213980
HP:0000924	Abnormality of the skeletal system	387733	IFITM5	OMIM:610967
HP:0000924	Abnormality of the skeletal system	51633	OTUD6B	ORPHA:505237
HP:0000924	Abnormality of the skeletal system	23114	NFASC	OMIM:618356
HP:0000924	Abnormality of the skeletal system	1289	COL5A1	OMIM:130000
HP:0000924	Abnormality of the skeletal system	1278	COL1A2	OMIM:617821
HP:0000924	Abnormality of the skeletal system	427	ASAH1	OMIM:228000
HP:0000924	Abnormality of the skeletal system	9373	PLAA	ORPHA:521426
HP:0000924	Abnormality of the skeletal system	2783	GNB2	OMIM:619503
HP:0000924	Abnormality of the skeletal system	3265	HRAS	OMIM:218040
HP:0000924	Abnormality of the skeletal system	2200	FBN1	OMIM:616914
HP:0000924	Abnormality of the skeletal system	121340	SP7	OMIM:613849
HP:0000924	Abnormality of the skeletal system	3782	KCNN3	OMIM:618658
HP:0000924	Abnormality of the skeletal system	5063	PAK3	OMIM:300558
HP:0000924	Abnormality of the skeletal system	6228	RPS23	OMIM:617412
HP:0000924	Abnormality of the skeletal system	27086	FOXP1	ORPHA:391372
HP:0000924	Abnormality of the skeletal system	23065	EMC1	ORPHA:480898
HP:0000924	Abnormality of the skeletal system	23065	EMC1	OMIM:616875
HP:0000924	Abnormality of the skeletal system	1105	CHD1	OMIM:617682
HP:0000924	Abnormality of the skeletal system	1822	ATN1	OMIM:618494
HP:0000924	Abnormality of the skeletal system	3720	JARID2	OMIM:620098
HP:0000924	Abnormality of the skeletal system	94	ACVRL1	OMIM:600376
HP:0000924	Abnormality of the skeletal system	6340	SCNN1G	ORPHA:60033
HP:0000924	Abnormality of the skeletal system	1080	CFTR	ORPHA:60033
HP:0000924	Abnormality of the skeletal system	6337	SCNN1A	ORPHA:60033
HP:0000924	Abnormality of the skeletal system	6338	SCNN1B	ORPHA:60033
HP:0000924	Abnormality of the skeletal system	2022	ENG	OMIM:187300
HP:0000924	Abnormality of the skeletal system	653509	SFTPA1	OMIM:619611
HP:0000924	Abnormality of the skeletal system	738	VPS51	OMIM:618606
HP:0000924	Abnormality of the skeletal system	56244	BTNL2	OMIM:612387
HP:0000924	Abnormality of the skeletal system	6794	STK11	OMIM:175200
HP:0000924	Abnormality of the skeletal system	3858	KRT10	OMIM:609165
HP:0000924	Abnormality of the skeletal system	25981	DNAH1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	115948	ODAD3	ORPHA:244
HP:0000924	Abnormality of the skeletal system	54768	HYDIN	ORPHA:244
HP:0000924	Abnormality of the skeletal system	352909	DNAAF3	ORPHA:244
HP:0000924	Abnormality of the skeletal system	27148	STK36	ORPHA:244
HP:0000924	Abnormality of the skeletal system	51314	NME8	ORPHA:244
HP:0000924	Abnormality of the skeletal system	92749	DRC1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	54970	TTC12	ORPHA:244
HP:0000924	Abnormality of the skeletal system	152110	NEK10	ORPHA:244
HP:0000924	Abnormality of the skeletal system	2302	FOXJ1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	221421	RSPH9	ORPHA:244
HP:0000924	Abnormality of the skeletal system	85478	CCDC65	ORPHA:244
HP:0000924	Abnormality of the skeletal system	55036	CCDC40	ORPHA:244
HP:0000924	Abnormality of the skeletal system	51364	ZMYND10	ORPHA:244
HP:0000924	Abnormality of the skeletal system	64446	DNAI2	ORPHA:244
HP:0000924	Abnormality of the skeletal system	6674	SPAG1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	83544	DNAL1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	89765	RSPH1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	83538	ODAD4	ORPHA:244
HP:0000924	Abnormality of the skeletal system	200373	CFAP221	ORPHA:244
HP:0000924	Abnormality of the skeletal system	374407	DNAJB13	ORPHA:244
HP:0000924	Abnormality of the skeletal system	55172	DNAAF2	ORPHA:244
HP:0000924	Abnormality of the skeletal system	161582	DNAAF4	ORPHA:244
HP:0000924	Abnormality of the skeletal system	2622	GAS8	ORPHA:244
HP:0000924	Abnormality of the skeletal system	23639	DNAAF11	ORPHA:244
HP:0000924	Abnormality of the skeletal system	27019	DNAI1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	345895	RSPH4A	ORPHA:244
HP:0000924	Abnormality of the skeletal system	54919	DNAAF5	ORPHA:244
HP:0000924	Abnormality of the skeletal system	6103	RPGR	ORPHA:244
HP:0000924	Abnormality of the skeletal system	388389	CCDC103	ORPHA:244
HP:0000924	Abnormality of the skeletal system	93233	ODAD1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	55130	ODAD2	ORPHA:244
HP:0000924	Abnormality of the skeletal system	1767	DNAH5	ORPHA:244
HP:0000924	Abnormality of the skeletal system	83861	RSPH3	ORPHA:244
HP:0000924	Abnormality of the skeletal system	345643	MCIDAS	ORPHA:244
HP:0000924	Abnormality of the skeletal system	56683	CFAP298	ORPHA:244
HP:0000924	Abnormality of the skeletal system	79925	SPEF2	ORPHA:244
HP:0000924	Abnormality of the skeletal system	10309	CCNO	ORPHA:244
HP:0000924	Abnormality of the skeletal system	115399	LRRC56	ORPHA:244
HP:0000924	Abnormality of the skeletal system	139212	DNAAF6	ORPHA:244
HP:0000924	Abnormality of the skeletal system	123872	DNAAF1	ORPHA:244
HP:0000924	Abnormality of the skeletal system	85016	CFAP300	ORPHA:244
HP:0000924	Abnormality of the skeletal system	339829	CCDC39	ORPHA:244
HP:0000924	Abnormality of the skeletal system	8701	DNAH11	ORPHA:244
HP:0000924	Abnormality of the skeletal system	1770	DNAH9	ORPHA:244
HP:0000924	Abnormality of the skeletal system	246176	GAS2L2	ORPHA:244
HP:0000924	Abnormality of the skeletal system	1604	CD55	OMIM:226300
HP:0000924	Abnormality of the skeletal system	10892	MALT1	OMIM:615468
HP:0000924	Abnormality of the skeletal system	7317	UBA1	ORPHA:1145
HP:0000924	Abnormality of the skeletal system	3868	KRT16	ORPHA:2199
HP:0000924	Abnormality of the skeletal system	3857	KRT9	ORPHA:2199
HP:0000924	Abnormality of the skeletal system	3848	KRT1	ORPHA:2199
HP:0000924	Abnormality of the skeletal system	10216	PRG4	ORPHA:2848
HP:0000924	Abnormality of the skeletal system	4323	MMP14	ORPHA:371428
HP:0000924	Abnormality of the skeletal system	4323	MMP14	OMIM:277950
HP:0000924	Abnormality of the skeletal system	3955	LFNG	OMIM:609813
HP:0000924	Abnormality of the skeletal system	10525	HYOU1	OMIM:233600
HP:0000924	Abnormality of the skeletal system	10381	TUBB3	OMIM:600638
HP:0000924	Abnormality of the skeletal system	57863	CADM3	OMIM:619519
HP:0000924	Abnormality of the skeletal system	55681	SCYL2	ORPHA:1143
HP:0000924	Abnormality of the skeletal system	84570	COL25A1	ORPHA:1143
HP:0000924	Abnormality of the skeletal system	57222	ERGIC1	ORPHA:1143
HP:0000924	Abnormality of the skeletal system	80208	SPG11	OMIM:616668
HP:0000924	Abnormality of the skeletal system	825	CAPN3	ORPHA:267
HP:0000924	Abnormality of the skeletal system	8449	DHX16	OMIM:618733
HP:0000924	Abnormality of the skeletal system	203859	ANO5	ORPHA:206549
HP:0000924	Abnormality of the skeletal system	4081	MAB21L1	OMIM:618479
HP:0000924	Abnormality of the skeletal system	84892	POMGNT2	ORPHA:899
HP:0000924	Abnormality of the skeletal system	148789	B3GALNT2	ORPHA:899
HP:0000924	Abnormality of the skeletal system	1282	COL4A1	ORPHA:899
HP:0000924	Abnormality of the skeletal system	10329	RXYLT1	ORPHA:899
HP:0000924	Abnormality of the skeletal system	55624	POMGNT1	ORPHA:899
HP:0000924	Abnormality of the skeletal system	5340	PLG	ORPHA:722
HP:0000924	Abnormality of the skeletal system	5340	PLG	OMIM:217090
HP:0000924	Abnormality of the skeletal system	84188	FAR1	ORPHA:438178
HP:0000924	Abnormality of the skeletal system	84188	FAR1	OMIM:616154
HP:0000924	Abnormality of the skeletal system	2683	B4GALT1	OMIM:607091
HP:0000924	Abnormality of the skeletal system	2683	B4GALT1	ORPHA:79332
HP:0000924	Abnormality of the skeletal system	7846	TUBA1A	ORPHA:994
HP:0000924	Abnormality of the skeletal system	55640	FLVCR2	OMIM:225790
HP:0000924	Abnormality of the skeletal system	26235	FBXL4	OMIM:615471
HP:0000924	Abnormality of the skeletal system	104	ADARB1	OMIM:618862
HP:0000924	Abnormality of the skeletal system	5515	PPP2CA	OMIM:618354
HP:0000924	Abnormality of the skeletal system	64221	ROBO3	OMIM:607313
HP:0000924	Abnormality of the skeletal system	26999	CYFIP2	OMIM:618008
HP:0000924	Abnormality of the skeletal system	2009	EML1	OMIM:600348
HP:0000924	Abnormality of the skeletal system	4330	MN1	OMIM:618774
HP:0000924	Abnormality of the skeletal system	8567	MADD	OMIM:619005
HP:0000924	Abnormality of the skeletal system	7358	UGDH	OMIM:618792
HP:0000924	Abnormality of the skeletal system	57502	NLGN4X	OMIM:300495
HP:0000924	Abnormality of the skeletal system	1807	DPYS	OMIM:222748
HP:0000924	Abnormality of the skeletal system	58497	PRUNE1	OMIM:617481
HP:0000924	Abnormality of the skeletal system	58497	PRUNE1	ORPHA:544469
HP:0000924	Abnormality of the skeletal system	57647	DHX37	OMIM:618731
HP:0000924	Abnormality of the skeletal system	284361	EMC10	OMIM:619264
HP:0000924	Abnormality of the skeletal system	10157	AASS	ORPHA:2203
HP:0000924	Abnormality of the skeletal system	26038	CHD5	OMIM:619873
HP:0000924	Abnormality of the skeletal system	10584	COLEC10	ORPHA:293843
HP:0000924	Abnormality of the skeletal system	4281	MID1	ORPHA:2745
HP:0000924	Abnormality of the skeletal system	8974	P4HA2	ORPHA:397
HP:0000924	Abnormality of the skeletal system	356	FASLG	ORPHA:3261
HP:0000924	Abnormality of the skeletal system	5580	PRKCD	ORPHA:3261
HP:0000924	Abnormality of the skeletal system	5580	PRKCD	OMIM:615559
HP:0000924	Abnormality of the skeletal system	843	CASP10	ORPHA:3261
HP:0000924	Abnormality of the skeletal system	10125	RASGRP1	ORPHA:3261
HP:0000924	Abnormality of the skeletal system	987	LRBA	OMIM:614700
HP:0000924	Abnormality of the skeletal system	6696	SPP1	ORPHA:93552
HP:0000924	Abnormality of the skeletal system	3654	IRAK1	ORPHA:93552
HP:0000924	Abnormality of the skeletal system	50943	FOXP3	OMIM:304790
HP:0000924	Abnormality of the skeletal system	56983	POGLUT1	ORPHA:79145
HP:0000924	Abnormality of the skeletal system	23509	POFUT1	ORPHA:79145
HP:0000924	Abnormality of the skeletal system	55851	PSENEN	ORPHA:79145
HP:0000924	Abnormality of the skeletal system	5896	RAG1	OMIM:601457
HP:0000924	Abnormality of the skeletal system	5897	RAG2	OMIM:601457
HP:0000924	Abnormality of the skeletal system	7018	TF	ORPHA:1195
HP:0000924	Abnormality of the skeletal system	105371045	PERCC1	ORPHA:92050
HP:0000924	Abnormality of the skeletal system	1493	CTLA4	OMIM:616100
HP:0000924	Abnormality of the skeletal system	1493	CTLA4	OMIM:152700
HP:0000924	Abnormality of the skeletal system	3107	HLA-C	OMIM:177900
HP:0000924	Abnormality of the skeletal system	23230	VPS13A	ORPHA:2388
HP:0000924	Abnormality of the skeletal system	30011	SH3KBP1	OMIM:300310
HP:0000924	Abnormality of the skeletal system	79784	MYH14	ORPHA:397744
HP:0000924	Abnormality of the skeletal system	3236	HOXD10	OMIM:192950
HP:0000924	Abnormality of the skeletal system	540	ATP7B	ORPHA:905
HP:0000924	Abnormality of the skeletal system	7454	WAS	ORPHA:906
HP:0000924	Abnormality of the skeletal system	7456	WIPF1	ORPHA:906
HP:0000924	Abnormality of the skeletal system	7036	TFR2	OMIM:604250
HP:0000924	Abnormality of the skeletal system	1314	COPA	OMIM:616414
HP:0000924	Abnormality of the skeletal system	91662	NLRP12	OMIM:611762
HP:0000924	Abnormality of the skeletal system	3662	IRF4	ORPHA:3452
HP:0000924	Abnormality of the skeletal system	695	BTK	ORPHA:47
HP:0000924	Abnormality of the skeletal system	3593	IL12B	ORPHA:3287
HP:0000924	Abnormality of the skeletal system	6945	MLX	ORPHA:3287
HP:0000924	Abnormality of the skeletal system	6850	SYK	OMIM:619381
HP:0000924	Abnormality of the skeletal system	2000	ELF4	OMIM:301074
HP:0000924	Abnormality of the skeletal system	205327	C2orf69	OMIM:619423
HP:0000924	Abnormality of the skeletal system	2212	FCGR2A	OMIM:152700
HP:0000924	Abnormality of the skeletal system	2213	FCGR2B	OMIM:152700
HP:0000924	Abnormality of the skeletal system	1773	DNASE1	OMIM:152700
HP:0000924	Abnormality of the skeletal system	165918	RNF168	ORPHA:420741
HP:0000924	Abnormality of the skeletal system	6929	TCF3	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	973	CD79A	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	974	CD79B	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	3543	IGLL1	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	3507	IGHM	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	29760	BLNK	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	56262	LRRC8A	ORPHA:33110
HP:0000924	Abnormality of the skeletal system	2643	GCH1	ORPHA:98808
HP:0000924	Abnormality of the skeletal system	4929	NR4A2	ORPHA:98808
HP:0000924	Abnormality of the skeletal system	3615	IMPDH2	ORPHA:98808
HP:0000924	Abnormality of the skeletal system	3514	IGKC	ORPHA:183675
HP:0000924	Abnormality of the skeletal system	3501	IGHG2	ORPHA:183675
HP:0000924	Abnormality of the skeletal system	3763	KCNJ6	ORPHA:435628
HP:0000924	Abnormality of the skeletal system	3763	KCNJ6	OMIM:614098
HP:0000924	Abnormality of the skeletal system	55823	VPS11	OMIM:616683
HP:0000924	Abnormality of the skeletal system	2895	GRID2	OMIM:616204
HP:0000924	Abnormality of the skeletal system	4072	EPCAM	ORPHA:144
HP:0000924	Abnormality of the skeletal system	4292	MLH1	ORPHA:144
HP:0000924	Abnormality of the skeletal system	5395	PMS2	ORPHA:144
HP:0000924	Abnormality of the skeletal system	27030	MLH3	ORPHA:144
HP:0000924	Abnormality of the skeletal system	22909	FAN1	ORPHA:144
HP:0000924	Abnormality of the skeletal system	2956	MSH6	ORPHA:144
HP:0000924	Abnormality of the skeletal system	5378	PMS1	ORPHA:144
HP:0000924	Abnormality of the skeletal system	4436	MSH2	ORPHA:144
HP:0000924	Abnormality of the skeletal system	4312	MMP1	ORPHA:79408
HP:0000924	Abnormality of the skeletal system	4312	MMP1	OMIM:226600
HP:0000924	Abnormality of the skeletal system	8443	GNPAT	OMIM:222765
HP:0000924	Abnormality of the skeletal system	54968	TMEM70	ORPHA:1194
HP:0000924	Abnormality of the skeletal system	6536	SLC6A9	OMIM:617301
HP:0000924	Abnormality of the skeletal system	1785	DNM2	OMIM:615368
HP:0000924	Abnormality of the skeletal system	1785	DNM2	OMIM:160150
HP:0000924	Abnormality of the skeletal system	64218	SEMA4A	ORPHA:440437
HP:0000924	Abnormality of the skeletal system	25914	RTTN	OMIM:614833
HP:0000924	Abnormality of the skeletal system	84197	POMK	OMIM:615249
HP:0000924	Abnormality of the skeletal system	128486	FITM2	OMIM:618635
HP:0000924	Abnormality of the skeletal system	3908	LAMA2	ORPHA:258
HP:0000924	Abnormality of the skeletal system	3908	LAMA2	OMIM:607855
HP:0000924	Abnormality of the skeletal system	29925	GMPPB	ORPHA:353327
HP:0000924	Abnormality of the skeletal system	2673	GFPT1	ORPHA:353327
HP:0000924	Abnormality of the skeletal system	85365	ALG2	ORPHA:353327
HP:0000924	Abnormality of the skeletal system	23250	ATP11A	OMIM:619851
HP:0000924	Abnormality of the skeletal system	55157	DARS2	ORPHA:137898
HP:0000924	Abnormality of the skeletal system	55157	DARS2	OMIM:611105
HP:0000924	Abnormality of the skeletal system	8560	DEGS1	OMIM:618404
HP:0000924	Abnormality of the skeletal system	6445	SGCG	OMIM:253700
HP:0000924	Abnormality of the skeletal system	56984	PSMG2	OMIM:619183
HP:0000924	Abnormality of the skeletal system	22872	SEC31A	OMIM:618651
HP:0000924	Abnormality of the skeletal system	1641	DCX	ORPHA:2148
HP:0000924	Abnormality of the skeletal system	4632	MYL1	OMIM:618414
HP:0000924	Abnormality of the skeletal system	2752	GLUL	OMIM:610015
HP:0000924	Abnormality of the skeletal system	149371	EXOC8	OMIM:619076
HP:0000924	Abnormality of the skeletal system	64419	MTMR14	OMIM:160150
HP:0000924	Abnormality of the skeletal system	773	CACNA1A	OMIM:617106
HP:0000924	Abnormality of the skeletal system	6506	SLC1A2	OMIM:617105
HP:0000924	Abnormality of the skeletal system	487	ATP2A1	OMIM:601003
HP:0000924	Abnormality of the skeletal system	22906	TRAK1	OMIM:618201
HP:0000924	Abnormality of the skeletal system	55275	VPS53	OMIM:615851
HP:0000924	Abnormality of the skeletal system	667	DST	OMIM:614653
HP:0000924	Abnormality of the skeletal system	3329	HSPD1	OMIM:612233
HP:0000924	Abnormality of the skeletal system	55770	EXOC2	OMIM:619306
HP:0000924	Abnormality of the skeletal system	4001	LMNB1	ORPHA:99027
HP:0000924	Abnormality of the skeletal system	84706	GPT2	OMIM:616281
HP:0000924	Abnormality of the skeletal system	9526	MPDU1	OMIM:609180
HP:0000924	Abnormality of the skeletal system	203547	VMA21	OMIM:310440
HP:0000924	Abnormality of the skeletal system	6442	SGCA	OMIM:608099
HP:0000924	Abnormality of the skeletal system	10049	DNAJB6	OMIM:603511
HP:0000924	Abnormality of the skeletal system	8882	ZPR1	OMIM:619321
HP:0000924	Abnormality of the skeletal system	10229	COQ7	OMIM:616733
HP:0000924	Abnormality of the skeletal system	112939	NACC1	ORPHA:500545
HP:0000924	Abnormality of the skeletal system	29078	NDUFAF4	OMIM:618237
HP:0000924	Abnormality of the skeletal system	5010	CLDN11	OMIM:619328
HP:0000924	Abnormality of the skeletal system	51010	EXOSC3	OMIM:614678
HP:0000924	Abnormality of the skeletal system	23729	SHPK	ORPHA:440713
HP:0000924	Abnormality of the skeletal system	6331	SCN5A	ORPHA:1344
HP:0000924	Abnormality of the skeletal system	4878	NPPA	ORPHA:1344
HP:0000924	Abnormality of the skeletal system	64856	VWA1	OMIM:619216
HP:0000924	Abnormality of the skeletal system	7965	AIMP2	OMIM:618006
HP:0000924	Abnormality of the skeletal system	51008	ASCC1	OMIM:616867
HP:0000924	Abnormality of the skeletal system	5160	PDHA1	ORPHA:79243
HP:0000924	Abnormality of the skeletal system	91647	ATPAF2	OMIM:604273
HP:0000924	Abnormality of the skeletal system	8802	SUCLG1	ORPHA:17
HP:0000924	Abnormality of the skeletal system	128637	TBC1D20	OMIM:615663
HP:0000924	Abnormality of the skeletal system	8425	LTBP4	ORPHA:98896
HP:0000924	Abnormality of the skeletal system	35	ACADS	OMIM:201470
HP:0000924	Abnormality of the skeletal system	2517	FUCA1	OMIM:230000
HP:0000924	Abnormality of the skeletal system	5538	PPT1	OMIM:256730
HP:0000924	Abnormality of the skeletal system	84081	NSRP1	OMIM:620001
HP:0000924	Abnormality of the skeletal system	6389	SDHA	OMIM:252011
HP:0000924	Abnormality of the skeletal system	2801	GOLGA2	OMIM:620240
HP:0000924	Abnormality of the skeletal system	84842	HPDL	OMIM:619026
HP:0000924	Abnormality of the skeletal system	22978	NT5C2	OMIM:613162
HP:0000924	Abnormality of the skeletal system	221692	PHACTR1	OMIM:618298
HP:0000924	Abnormality of the skeletal system	2639	GCDH	ORPHA:25
HP:0000924	Abnormality of the skeletal system	1776	DNASE1L3	ORPHA:36412
HP:0000924	Abnormality of the skeletal system	6748	SSR4	ORPHA:370927
HP:0000924	Abnormality of the skeletal system	6748	SSR4	OMIM:300934
HP:0000924	Abnormality of the skeletal system	2743	GLRB	ORPHA:3197
HP:0000924	Abnormality of the skeletal system	2741	GLRA1	ORPHA:3197
HP:0000924	Abnormality of the skeletal system	10243	GPHN	ORPHA:3197
HP:0000924	Abnormality of the skeletal system	9152	SLC6A5	ORPHA:3197
HP:0000924	Abnormality of the skeletal system	2138	EYA1	OMIM:113650
HP:0000924	Abnormality of the skeletal system	6495	SIX1	OMIM:113650
HP:0000924	Abnormality of the skeletal system	523	ATP6V1A	ORPHA:357074
HP:0000924	Abnormality of the skeletal system	529	ATP6V1E1	ORPHA:357074
HP:0000924	Abnormality of the skeletal system	5528	PPP2R5D	ORPHA:457279
HP:0000924	Abnormality of the skeletal system	5528	PPP2R5D	OMIM:616355
HP:0000924	Abnormality of the skeletal system	50628	GEMIN4	OMIM:617913
HP:0000924	Abnormality of the skeletal system	7067	THRA	OMIM:614450
HP:0000924	Abnormality of the skeletal system	30061	SLC40A1	ORPHA:139491
HP:0000924	Abnormality of the skeletal system	5354	PLP1	ORPHA:99015
HP:0000924	Abnormality of the skeletal system	242	ALOX12B	ORPHA:281122
HP:0000924	Abnormality of the skeletal system	59344	ALOXE3	ORPHA:281122
HP:0000924	Abnormality of the skeletal system	7051	TGM1	ORPHA:281122
HP:0000924	Abnormality of the skeletal system	113179	ADAT3	ORPHA:363528
HP:0000924	Abnormality of the skeletal system	2632	GBE1	ORPHA:206583
HP:0000924	Abnormality of the skeletal system	4598	MVK	ORPHA:343
HP:0000924	Abnormality of the skeletal system	56052	ALG1	ORPHA:79327
HP:0000924	Abnormality of the skeletal system	9051	PSTPIP1	ORPHA:69126
HP:0000924	Abnormality of the skeletal system	23529	CLCF1	OMIM:610313
HP:0000924	Abnormality of the skeletal system	10046	MAMLD1	ORPHA:456328
HP:0000924	Abnormality of the skeletal system	283489	CHAMP1	OMIM:616579
HP:0000924	Abnormality of the skeletal system	7125	TNNC2	OMIM:620161
HP:0000924	Abnormality of the skeletal system	9739	SETD1A	OMIM:619056
HP:0000924	Abnormality of the skeletal system	26057	ANKRD17	OMIM:619504
HP:0000924	Abnormality of the skeletal system	7862	BRPF1	OMIM:617333
HP:0000924	Abnormality of the skeletal system	22859	ADGRL1	OMIM:620065
HP:0000924	Abnormality of the skeletal system	283209	PGM2L1	OMIM:620191
HP:0000924	Abnormality of the skeletal system	78989	COLEC11	OMIM:265050
HP:0000924	Abnormality of the skeletal system	53335	BCL11A	OMIM:617101
HP:0000924	Abnormality of the skeletal system	11117	EMILIN1	OMIM:620080
HP:0000924	Abnormality of the skeletal system	8565	YARS1	OMIM:619418
HP:0000924	Abnormality of the skeletal system	8621	CDK13	OMIM:617360
HP:0000924	Abnormality of the skeletal system	64116	SLC39A8	OMIM:616721
HP:0000924	Abnormality of the skeletal system	6418	SET	OMIM:618106
HP:0000924	Abnormality of the skeletal system	26115	TANC2	OMIM:618906
HP:0000924	Abnormality of the skeletal system	57551	TAOK1	OMIM:619575
HP:0000924	Abnormality of the skeletal system	537	ATP6AP1	OMIM:300972
HP:0000924	Abnormality of the skeletal system	55033	FKBP14	ORPHA:300179
HP:0000924	Abnormality of the skeletal system	23112	TNRC6B	OMIM:619243
HP:0000924	Abnormality of the skeletal system	84905	ZNF341	OMIM:618282
HP:0000924	Abnormality of the skeletal system	10020	GNE	ORPHA:3166
HP:0000924	Abnormality of the skeletal system	8139	GAN	ORPHA:643
HP:0000924	Abnormality of the skeletal system	11141	IL1RAPL1	OMIM:300143
HP:0000924	Abnormality of the skeletal system	23309	SIN3B	ORPHA:500166
HP:0000924	Abnormality of the skeletal system	1806	DPYD	ORPHA:293948
HP:0000924	Abnormality of the skeletal system	60684	TRAPPC11	OMIM:615356
HP:0000924	Abnormality of the skeletal system	7372	UMPS	ORPHA:30
HP:0000924	Abnormality of the skeletal system	478	ATP1A3	OMIM:619606
HP:0000924	Abnormality of the skeletal system	4692	NDN	ORPHA:177904
HP:0000924	Abnormality of the skeletal system	4692	NDN	ORPHA:177901
HP:0000924	Abnormality of the skeletal system	4692	NDN	ORPHA:98754
HP:0000924	Abnormality of the skeletal system	4948	OCA2	ORPHA:177904
HP:0000924	Abnormality of the skeletal system	4948	OCA2	ORPHA:177901
HP:0000924	Abnormality of the skeletal system	4948	OCA2	ORPHA:98754
HP:0000924	Abnormality of the skeletal system	153642	ARSK	OMIM:619698
HP:0000924	Abnormality of the skeletal system	26276	VPS33B	OMIM:208085
HP:0000924	Abnormality of the skeletal system	57511	COG6	OMIM:614576
HP:0000924	Abnormality of the skeletal system	63894	VIPAS39	OMIM:613404
HP:0000924	Abnormality of the skeletal system	2799	GNS	OMIM:252940
HP:0000924	Abnormality of the skeletal system	10667	FARS2	ORPHA:466722
HP:0000924	Abnormality of the skeletal system	51780	KDM3B	OMIM:618846
HP:0000924	Abnormality of the skeletal system	64432	MRPS25	OMIM:619025
HP:0000924	Abnormality of the skeletal system	79628	SH3TC2	ORPHA:99949
HP:0000924	Abnormality of the skeletal system	55753	OGDHL	OMIM:619701
HP:0000924	Abnormality of the skeletal system	90268	OTULIN	OMIM:617099
HP:0000924	Abnormality of the skeletal system	11200	CHEK2	ORPHA:668
HP:0000924	Abnormality of the skeletal system	2243	FGA	ORPHA:98880
HP:0000924	Abnormality of the skeletal system	2244	FGB	ORPHA:98880
HP:0000924	Abnormality of the skeletal system	2266	FGG	ORPHA:98880
HP:0000924	Abnormality of the skeletal system	3557	IL1RN	OMIM:612852
HP:0000924	Abnormality of the skeletal system	54507	ADAMTSL4	ORPHA:1885
HP:0000924	Abnormality of the skeletal system	3418	IDH2	ORPHA:296
HP:0000924	Abnormality of the skeletal system	5119	CHMP1A	OMIM:614961
HP:0000924	Abnormality of the skeletal system	340061	STING1	OMIM:615934
HP:0000924	Abnormality of the skeletal system	112476	PRRT2	ORPHA:98810
HP:0000924	Abnormality of the skeletal system	25953	PNKD	ORPHA:98810
HP:0000924	Abnormality of the skeletal system	493856	CISD2	ORPHA:3463
HP:0000924	Abnormality of the skeletal system	7466	WFS1	ORPHA:3463
HP:0000924	Abnormality of the skeletal system	57724	EPG5	ORPHA:1493
HP:0000924	Abnormality of the skeletal system	6448	SGSH	OMIM:252900
HP:0000924	Abnormality of the skeletal system	443	ASPA	ORPHA:314911
HP:0000924	Abnormality of the skeletal system	3889	KRT83	OMIM:617756
HP:0000924	Abnormality of the skeletal system	138050	HGSNAT	OMIM:252930
HP:0000924	Abnormality of the skeletal system	22930	RAB3GAP1	ORPHA:2510
HP:0000924	Abnormality of the skeletal system	54829	ASPN	OMIM:607850
HP:0000924	Abnormality of the skeletal system	4669	NAGLU	OMIM:252920
HP:0000924	Abnormality of the skeletal system	27245	AHDC1	ORPHA:412069
HP:0000924	Abnormality of the skeletal system	7532	YWHAG	OMIM:617665
HP:0000924	Abnormality of the skeletal system	54914	FOCAD	OMIM:619991
HP:0000924	Abnormality of the skeletal system	5828	PEX2	OMIM:614867
HP:0000924	Abnormality of the skeletal system	54941	RNF125	OMIM:616260
HP:0000924	Abnormality of the skeletal system	55084	SOBP	OMIM:613671
HP:0000924	Abnormality of the skeletal system	1107	CHD3	OMIM:618205
HP:0000924	Abnormality of the skeletal system	6857	SYT1	OMIM:618218
HP:0000924	Abnormality of the skeletal system	6857	SYT1	ORPHA:522077
HP:0000924	Abnormality of the skeletal system	57102	C12orf4	OMIM:618221
HP:0000924	Abnormality of the skeletal system	92335	STRADA	ORPHA:500533
HP:0000924	Abnormality of the skeletal system	92335	STRADA	OMIM:611087
HP:0000924	Abnormality of the skeletal system	1654	DDX3X	ORPHA:457260
HP:0000924	Abnormality of the skeletal system	55603	TENT5A	OMIM:617952
HP:0000924	Abnormality of the skeletal system	6597	SMARCA4	ORPHA:1465
HP:0000924	Abnormality of the skeletal system	6601	SMARCC2	ORPHA:1465
HP:0000924	Abnormality of the skeletal system	6602	SMARCD1	ORPHA:1465
HP:0000924	Abnormality of the skeletal system	2019	EN1	OMIM:619218
HP:0000924	Abnormality of the skeletal system	80324	PUS1	OMIM:600462
HP:0000924	Abnormality of the skeletal system	57061	HYMAI	ORPHA:96191
HP:0000924	Abnormality of the skeletal system	5325	PLAGL1	ORPHA:96191
HP:0000924	Abnormality of the skeletal system	2892	GRIA3	ORPHA:364028
HP:0000924	Abnormality of the skeletal system	10367	MICU1	OMIM:615673
HP:0000924	Abnormality of the skeletal system	4361	MRE11	ORPHA:251347
HP:0000924	Abnormality of the skeletal system	3762	KCNJ5	ORPHA:37553
HP:0000924	Abnormality of the skeletal system	367	AR	OMIM:312300
HP:0000924	Abnormality of the skeletal system	65260	COA7	OMIM:618387
HP:0000924	Abnormality of the skeletal system	50717	DCAF8	OMIM:610100
HP:0000924	Abnormality of the skeletal system	7879	RAB7A	OMIM:600882
HP:0000924	Abnormality of the skeletal system	5375	PMP2	OMIM:618279
HP:0000924	Abnormality of the skeletal system	400916	CHCHD10	OMIM:615048
HP:0000924	Abnormality of the skeletal system	90678	LRSAM1	OMIM:614436
HP:0000924	Abnormality of the skeletal system	3710	ITPR3	OMIM:620111
HP:0000924	Abnormality of the skeletal system	59345	GNB4	OMIM:615185
HP:0000924	Abnormality of the skeletal system	8729	GBF1	OMIM:606483
HP:0000924	Abnormality of the skeletal system	4556	MT-TE	ORPHA:2596
HP:0000924	Abnormality of the skeletal system	26090	ABHD12	OMIM:612674
HP:0000924	Abnormality of the skeletal system	6049	RNF6	ORPHA:99977
HP:0000924	Abnormality of the skeletal system	9940	DLEC1	ORPHA:99977
HP:0000924	Abnormality of the skeletal system	22948	CCT5	OMIM:256840
HP:0000924	Abnormality of the skeletal system	22948	CCT5	ORPHA:139578
HP:0000924	Abnormality of the skeletal system	51726	DNAJB11	OMIM:618061
HP:0000924	Abnormality of the skeletal system	3251	HPRT1	ORPHA:510
HP:0000924	Abnormality of the skeletal system	3251	HPRT1	ORPHA:79233
HP:0000924	Abnormality of the skeletal system	7369	UMOD	OMIM:162000
HP:0000924	Abnormality of the skeletal system	5631	PRPS1	OMIM:300661
HP:0000924	Abnormality of the skeletal system	5631	PRPS1	ORPHA:411543
HP:0000924	Abnormality of the skeletal system	6928	HNF1B	OMIM:137920
HP:0000924	Abnormality of the skeletal system	29927	SEC61A1	OMIM:617056
HP:0000924	Abnormality of the skeletal system	2538	G6PC1	OMIM:232200
HP:0000924	Abnormality of the skeletal system	5213	PFKM	OMIM:232800
HP:0000924	Abnormality of the skeletal system	4582	MUC1	OMIM:174000
HP:0000924	Abnormality of the skeletal system	1188	CLCNKB	ORPHA:358
HP:0000924	Abnormality of the skeletal system	6559	SLC12A3	ORPHA:358
HP:0000924	Abnormality of the skeletal system	2542	SLC37A4	OMIM:232220
HP:0000924	Abnormality of the skeletal system	2542	SLC37A4	OMIM:232240
HP:0000924	Abnormality of the skeletal system	2542	SLC37A4	ORPHA:79259
HP:0000924	Abnormality of the skeletal system	2038	EPB42	ORPHA:822
HP:0000924	Abnormality of the skeletal system	6521	SLC4A1	ORPHA:822
HP:0000924	Abnormality of the skeletal system	6710	SPTB	ORPHA:822
HP:0000924	Abnormality of the skeletal system	6708	SPTA1	ORPHA:822
HP:0000924	Abnormality of the skeletal system	286	ANK1	ORPHA:822
HP:0000924	Abnormality of the skeletal system	4040	LRP6	OMIM:610947
HP:0000924	Abnormality of the skeletal system	7360	UGP2	OMIM:618744
HP:0000924	Abnormality of the skeletal system	2035	EPB41	ORPHA:288
HP:0000924	Abnormality of the skeletal system	2995	GYPC	ORPHA:288
HP:0000924	Abnormality of the skeletal system	5813	PURA	ORPHA:438216
HP:0000924	Abnormality of the skeletal system	92609	TIMM50	OMIM:617698
HP:0000924	Abnormality of the skeletal system	7707	ZNF148	OMIM:617260
HP:0000924	Abnormality of the skeletal system	116442	RAB39B	OMIM:311510
HP:0000924	Abnormality of the skeletal system	116442	RAB39B	ORPHA:2379
HP:0000924	Abnormality of the skeletal system	5058	PAK1	OMIM:618158
HP:0000924	Abnormality of the skeletal system	55181	SMG8	OMIM:619268
HP:0000924	Abnormality of the skeletal system	4983	OPHN1	OMIM:300486
HP:0000924	Abnormality of the skeletal system	9442	MED27	OMIM:619286
HP:0000924	Abnormality of the skeletal system	9377	COX5A	OMIM:619064
HP:0000924	Abnormality of the skeletal system	4338	MOCS2	OMIM:252160
HP:0000924	Abnormality of the skeletal system	728294	D2HGDH	OMIM:600721
HP:0000924	Abnormality of the skeletal system	471	ATIC	OMIM:608688
HP:0000924	Abnormality of the skeletal system	254065	BRWD3	OMIM:300659
HP:0000924	Abnormality of the skeletal system	132	ADK	OMIM:614300
HP:0000924	Abnormality of the skeletal system	4792	NFKBIA	OMIM:612132
HP:0000924	Abnormality of the skeletal system	4337	MOCS1	OMIM:252150
HP:0000924	Abnormality of the skeletal system	10913	EDAR	OMIM:224900
HP:0000924	Abnormality of the skeletal system	6519	SLC3A1	ORPHA:163690
HP:0000924	Abnormality of the skeletal system	6519	SLC3A1	ORPHA:163693
HP:0000924	Abnormality of the skeletal system	9581	PREPL	ORPHA:163690
HP:0000924	Abnormality of the skeletal system	9581	PREPL	ORPHA:163693
HP:0000924	Abnormality of the skeletal system	84628	NTNG2	OMIM:618718
HP:0000924	Abnormality of the skeletal system	5495	PPM1B	ORPHA:163693
HP:0000924	Abnormality of the skeletal system	79823	CAMKMT	ORPHA:163693
HP:0000924	Abnormality of the skeletal system	8777	MPDZ	OMIM:615219
HP:0000924	Abnormality of the skeletal system	3769	KCNJ13	ORPHA:65
HP:0000924	Abnormality of the skeletal system	343035	RD3	ORPHA:65
HP:0000924	Abnormality of the skeletal system	145226	RDH12	ORPHA:65
HP:0000924	Abnormality of the skeletal system	1406	CRX	ORPHA:65
HP:0000924	Abnormality of the skeletal system	10383	TUBB4B	ORPHA:65
HP:0000924	Abnormality of the skeletal system	85015	USP45	ORPHA:65
HP:0000924	Abnormality of the skeletal system	6121	RPE65	ORPHA:65
HP:0000924	Abnormality of the skeletal system	23418	CRB1	ORPHA:65
HP:0000924	Abnormality of the skeletal system	23746	AIPL1	ORPHA:65
HP:0000924	Abnormality of the skeletal system	3000	GUCY2D	ORPHA:65
HP:0000924	Abnormality of the skeletal system	9227	LRAT	ORPHA:65
HP:0000924	Abnormality of the skeletal system	55812	SPATA7	ORPHA:65
HP:0000924	Abnormality of the skeletal system	7287	TULP1	ORPHA:65
HP:0000924	Abnormality of the skeletal system	167691	LCA5	ORPHA:65
HP:0000924	Abnormality of the skeletal system	3614	IMPDH1	ORPHA:65
HP:0000924	Abnormality of the skeletal system	4558	MT-TF	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4572	MT-TQ	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4512	MT-CO1	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4513	MT-CO2	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4514	MT-CO3	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4578	MT-TW	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4540	MT-ND5	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4541	MT-ND6	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4538	MT-ND4	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4574	MT-TS1	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4575	MT-TS2	ORPHA:550
HP:0000924	Abnormality of the skeletal system	4564	MT-TH	ORPHA:550
HP:0000924	Abnormality of the skeletal system	113612	CYP2U1	OMIM:615030
HP:0000924	Abnormality of the skeletal system	9636	ISG15	OMIM:616126
HP:0000924	Abnormality of the skeletal system	2625	GATA3	OMIM:146255
HP:0000924	Abnormality of the skeletal system	501	ALDH7A1	ORPHA:3006
HP:0000924	Abnormality of the skeletal system	11212	PLPBP	ORPHA:3006
HP:0000924	Abnormality of the skeletal system	23203	PMPCA	ORPHA:1170
HP:0000924	Abnormality of the skeletal system	1161	ERCC8	ORPHA:90324
HP:0000924	Abnormality of the skeletal system	2074	ERCC6	ORPHA:90324
HP:0000924	Abnormality of the skeletal system	727676	SNORD118	ORPHA:542310
HP:0000924	Abnormality of the skeletal system	6575	SLC20A2	OMIM:213600
HP:0000924	Abnormality of the skeletal system	5155	PDGFB	OMIM:213600
HP:0000924	Abnormality of the skeletal system	113235	SLC46A1	ORPHA:90045
HP:0000924	Abnormality of the skeletal system	51741	WWOX	OMIM:616211
HP:0000924	Abnormality of the skeletal system	79709	COLGALT1	OMIM:618360
HP:0000924	Abnormality of the skeletal system	8671	SLC4A4	OMIM:604278
HP:0000924	Abnormality of the skeletal system	889	KRIT1	OMIM:116860
HP:0000924	Abnormality of the skeletal system	103	ADAR	OMIM:615010
HP:0000924	Abnormality of the skeletal system	103	ADAR	ORPHA:51
HP:0000924	Abnormality of the skeletal system	3394	IRF8	OMIM:226990
HP:0000924	Abnormality of the skeletal system	11274	USP18	OMIM:617397
HP:0000924	Abnormality of the skeletal system	6773	STAT2	OMIM:618886
HP:0000924	Abnormality of the skeletal system	9213	XPR1	ORPHA:1980
HP:0000924	Abnormality of the skeletal system	57462	MYORG	ORPHA:1980
HP:0000924	Abnormality of the skeletal system	3117	HLA-DQA1	OMIM:212750
HP:0000924	Abnormality of the skeletal system	3119	HLA-DQB1	OMIM:212750
HP:0000924	Abnormality of the skeletal system	100506658	OCLN	ORPHA:1229
HP:0000924	Abnormality of the skeletal system	100506658	OCLN	OMIM:251290
HP:0000924	Abnormality of the skeletal system	23258	DENND5A	OMIM:617281
HP:0000924	Abnormality of the skeletal system	8635	RNASET2	OMIM:612951
HP:0000924	Abnormality of the skeletal system	4644	MYO5A	ORPHA:79476
HP:0000924	Abnormality of the skeletal system	8905	AP1S2	ORPHA:85335
HP:0000924	Abnormality of the skeletal system	8905	AP1S2	OMIM:304340
HP:0000924	Abnormality of the skeletal system	7249	TSC2	OMIM:613254
HP:0000924	Abnormality of the skeletal system	3458	IFNG	OMIM:613254
HP:0000924	Abnormality of the skeletal system	2776	GNAQ	ORPHA:624
HP:0000924	Abnormality of the skeletal system	2776	GNAQ	ORPHA:3205
HP:0000924	Abnormality of the skeletal system	100147744	RNU7-1	OMIM:619487
HP:0000924	Abnormality of the skeletal system	100147744	RNU7-1	ORPHA:51
HP:0000924	Abnormality of the skeletal system	57169	ZNFX1	OMIM:619644
HP:0000924	Abnormality of the skeletal system	1605	DAG1	OMIM:616538
HP:0000924	Abnormality of the skeletal system	7248	TSC1	OMIM:191100
HP:0000924	Abnormality of the skeletal system	326	AIRE	ORPHA:3453
HP:0000924	Abnormality of the skeletal system	351	APP	ORPHA:100006
HP:0000924	Abnormality of the skeletal system	5741	PTH	OMIM:146200
HP:0000924	Abnormality of the skeletal system	65057	ACD	ORPHA:3322
HP:0000924	Abnormality of the skeletal system	84153	RNASEH2C	OMIM:610329
HP:0000924	Abnormality of the skeletal system	84153	RNASEH2C	ORPHA:51
HP:0000924	Abnormality of the skeletal system	3735	KARS1	OMIM:619147
HP:0000924	Abnormality of the skeletal system	5860	QDPR	OMIM:261630
HP:0000924	Abnormality of the skeletal system	56160	NSMCE3	OMIM:617241
HP:0000924	Abnormality of the skeletal system	10535	RNASEH2A	OMIM:610333
HP:0000924	Abnormality of the skeletal system	10535	RNASEH2A	ORPHA:51
HP:0000924	Abnormality of the skeletal system	79621	RNASEH2B	ORPHA:51
HP:0000924	Abnormality of the skeletal system	134353	LSM11	ORPHA:51
HP:0000924	Abnormality of the skeletal system	8803	SUCLA2	ORPHA:1933
HP:0000924	Abnormality of the skeletal system	3315	HSPB1	OMIM:608634
HP:0000924	Abnormality of the skeletal system	64919	BCL11B	OMIM:617237
HP:0000924	Abnormality of the skeletal system	51399	TRAPPC4	OMIM:618741
HP:0000924	Abnormality of the skeletal system	55209	SETD5	ORPHA:404440
HP:0000924	Abnormality of the skeletal system	55209	SETD5	OMIM:615761
HP:0000924	Abnormality of the skeletal system	6687	SPG7	ORPHA:99013
HP:0000924	Abnormality of the skeletal system	6687	SPG7	OMIM:607259
HP:0000924	Abnormality of the skeletal system	166378	AFG2A	OMIM:616577
HP:0000924	Abnormality of the skeletal system	79029	AFG2B	OMIM:619616
HP:0000924	Abnormality of the skeletal system	4620	MYH2	OMIM:605637
HP:0000924	Abnormality of the skeletal system	3098	HK1	OMIM:618547
HP:0000924	Abnormality of the skeletal system	3098	HK1	OMIM:605285
HP:0000924	Abnormality of the skeletal system	3098	HK1	ORPHA:99953
HP:0000924	Abnormality of the skeletal system	2705	GJB1	ORPHA:101075
HP:0000924	Abnormality of the skeletal system	2705	GJB1	ORPHA:1175
HP:0000924	Abnormality of the skeletal system	2395	FXN	OMIM:229300
HP:0000924	Abnormality of the skeletal system	2395	FXN	ORPHA:95
HP:0000924	Abnormality of the skeletal system	3508	IGHMBP2	OMIM:616155
HP:0000924	Abnormality of the skeletal system	2583	B4GALNT1	OMIM:609195
HP:0000924	Abnormality of the skeletal system	2583	B4GALNT1	ORPHA:101006
HP:0000924	Abnormality of the skeletal system	5081	PAX7	OMIM:618578
HP:0000924	Abnormality of the skeletal system	2617	GARS1	OMIM:601472
HP:0000924	Abnormality of the skeletal system	2617	GARS1	OMIM:619042
HP:0000924	Abnormality of the skeletal system	5428	POLG	OMIM:258450
HP:0000924	Abnormality of the skeletal system	5428	POLG	OMIM:203700
HP:0000924	Abnormality of the skeletal system	23005	MAPKBP1	OMIM:617271
HP:0000924	Abnormality of the skeletal system	7084	TK2	ORPHA:254875
HP:0000924	Abnormality of the skeletal system	201163	FLCN	OMIM:610883
HP:0000924	Abnormality of the skeletal system	1760	DMPK	ORPHA:589821
HP:0000924	Abnormality of the skeletal system	80821	DDHD1	ORPHA:101008
HP:0000924	Abnormality of the skeletal system	80821	DDHD1	OMIM:609340
HP:0000924	Abnormality of the skeletal system	55975	KLHL7	OMIM:617055
HP:0000924	Abnormality of the skeletal system	2290	FOXG1	ORPHA:261144
HP:0000924	Abnormality of the skeletal system	2290	FOXG1	OMIM:613454
HP:0000924	Abnormality of the skeletal system	54809	SAMD9	OMIM:617053
HP:0000924	Abnormality of the skeletal system	9829	DNAJC6	ORPHA:391411
HP:0000924	Abnormality of the skeletal system	5420	PODXL	ORPHA:391411
HP:0000924	Abnormality of the skeletal system	8867	SYNJ1	ORPHA:391411
HP:0000924	Abnormality of the skeletal system	283446	MYO1H	OMIM:619482
HP:0000924	Abnormality of the skeletal system	779	CACNA1S	OMIM:620246
HP:0000924	Abnormality of the skeletal system	116150	NUS1	OMIM:617082
HP:0000924	Abnormality of the skeletal system	1183	CLCN4	OMIM:300114
HP:0000924	Abnormality of the skeletal system	1183	CLCN4	ORPHA:485350
HP:0000924	Abnormality of the skeletal system	80308	FLAD1	OMIM:255100
HP:0000924	Abnormality of the skeletal system	50484	RRM2B	ORPHA:329336
HP:0000924	Abnormality of the skeletal system	246243	RNASEH1	ORPHA:329336
HP:0000924	Abnormality of the skeletal system	51506	UFC1	OMIM:618076
HP:0000924	Abnormality of the skeletal system	25778	DSTYK	OMIM:270750
HP:0000924	Abnormality of the skeletal system	57531	HACE1	ORPHA:464282
HP:0000924	Abnormality of the skeletal system	57531	HACE1	OMIM:616756
HP:0000924	Abnormality of the skeletal system	51067	YARS2	ORPHA:2598
HP:0000924	Abnormality of the skeletal system	57165	GJC2	OMIM:613206
HP:0000924	Abnormality of the skeletal system	11235	PDCD10	ORPHA:221061
HP:0000924	Abnormality of the skeletal system	83605	CCM2	ORPHA:221061
HP:0000924	Abnormality of the skeletal system	6652	SORD	OMIM:618912
HP:0000924	Abnormality of the skeletal system	23097	CDK19	OMIM:618916
HP:0000924	Abnormality of the skeletal system	10616	RBCK1	OMIM:615895
HP:0000924	Abnormality of the skeletal system	9378	NRXN1	OMIM:614325
HP:0000924	Abnormality of the skeletal system	57449	PLEKHG5	OMIM:611067
HP:0000924	Abnormality of the skeletal system	57449	PLEKHG5	OMIM:615376
HP:0000924	Abnormality of the skeletal system	80152	CENPT	OMIM:618702
HP:0000924	Abnormality of the skeletal system	8292	COLQ	ORPHA:98915
HP:0000924	Abnormality of the skeletal system	8292	COLQ	OMIM:603034
HP:0000924	Abnormality of the skeletal system	3913	LAMB2	ORPHA:98915
HP:0000924	Abnormality of the skeletal system	87178	PNPT1	OMIM:608703
HP:0000924	Abnormality of the skeletal system	87178	PNPT1	ORPHA:101111
HP:0000924	Abnormality of the skeletal system	1804	DPP6	OMIM:616311
HP:0000924	Abnormality of the skeletal system	9692	PRORP	OMIM:619737
HP:0000924	Abnormality of the skeletal system	7920	ABHD16A	OMIM:619735
HP:0000924	Abnormality of the skeletal system	5424	POLD1	OMIM:615381
HP:0000924	Abnormality of the skeletal system	88	ACTN2	OMIM:618654
HP:0000924	Abnormality of the skeletal system	54840	APTX	OMIM:208920
HP:0000924	Abnormality of the skeletal system	284439	SLC25A42	OMIM:618416
HP:0000924	Abnormality of the skeletal system	84504	NKX6-2	ORPHA:527497
HP:0000924	Abnormality of the skeletal system	9453	GGPS1	OMIM:619518
HP:0000924	Abnormality of the skeletal system	54902	TTC19	OMIM:615157
HP:0000924	Abnormality of the skeletal system	8898	MTMR2	OMIM:601382
HP:0000924	Abnormality of the skeletal system	59336	PRDM13	OMIM:619761
HP:0000924	Abnormality of the skeletal system	22	ABCB7	ORPHA:2802
HP:0000924	Abnormality of the skeletal system	51117	COQ4	OMIM:616276
HP:0000924	Abnormality of the skeletal system	54892	NCAPG2	OMIM:618460
HP:0000924	Abnormality of the skeletal system	22854	NTNG1	ORPHA:3095
HP:0000924	Abnormality of the skeletal system	9568	GABBR2	ORPHA:3095
HP:0000924	Abnormality of the skeletal system	9568	GABBR2	OMIM:617904
HP:0000924	Abnormality of the skeletal system	51103	NDUFAF1	OMIM:618234
HP:0000924	Abnormality of the skeletal system	79133	NDUFAF5	OMIM:618238
HP:0000924	Abnormality of the skeletal system	55967	NDUFA12	OMIM:618244
HP:0000924	Abnormality of the skeletal system	55572	FOXRED1	OMIM:618241
HP:0000924	Abnormality of the skeletal system	84668	HYCC1	OMIM:610532
HP:0000924	Abnormality of the skeletal system	9531	BAG3	OMIM:612954
HP:0000924	Abnormality of the skeletal system	80185	TTI2	ORPHA:391307
HP:0000924	Abnormality of the skeletal system	5457	POU4F1	OMIM:619352
HP:0000924	Abnormality of the skeletal system	90522	YIF1B	OMIM:619125
HP:0000924	Abnormality of the skeletal system	440138	ALG11	ORPHA:280071
HP:0000924	Abnormality of the skeletal system	5080	PAX6	ORPHA:893
HP:0000924	Abnormality of the skeletal system	627	BDNF	ORPHA:893
HP:0000924	Abnormality of the skeletal system	7490	WT1	ORPHA:893
HP:0000924	Abnormality of the skeletal system	55074	OXR1	OMIM:213000
HP:0000924	Abnormality of the skeletal system	23769	FLRT1	ORPHA:320406
HP:0000924	Abnormality of the skeletal system	1119	CHKA	OMIM:620023
HP:0000924	Abnormality of the skeletal system	118987	PDZD8	OMIM:620021
HP:0000924	Abnormality of the skeletal system	100996717	NOTCH2NLC	ORPHA:2289
HP:0000924	Abnormality of the skeletal system	1351	COX8A	OMIM:619059
HP:0000924	Abnormality of the skeletal system	100131801	PET100	OMIM:619055
HP:0000924	Abnormality of the skeletal system	374393	FAM111B	OMIM:615704
HP:0000924	Abnormality of the skeletal system	121512	FGD4	OMIM:609311
HP:0000924	Abnormality of the skeletal system	1267	CNP	OMIM:619071
HP:0000924	Abnormality of the skeletal system	26353	HSPB8	OMIM:608673
HP:0000924	Abnormality of the skeletal system	23064	SETX	OMIM:606002
HP:0000924	Abnormality of the skeletal system	89874	SLC25A21	OMIM:618811
HP:0000924	Abnormality of the skeletal system	57731	SPTBN4	OMIM:617519
HP:0000924	Abnormality of the skeletal system	51733	UPB1	OMIM:613161
HP:0000924	Abnormality of the skeletal system	9570	GOSR2	OMIM:614018
HP:0000924	Abnormality of the skeletal system	8504	PEX3	ORPHA:912
HP:0000924	Abnormality of the skeletal system	8799	PEX11B	ORPHA:912
HP:0000924	Abnormality of the skeletal system	5193	PEX12	ORPHA:912
HP:0000924	Abnormality of the skeletal system	5194	PEX13	ORPHA:912
HP:0000924	Abnormality of the skeletal system	5195	PEX14	ORPHA:912
HP:0000924	Abnormality of the skeletal system	5192	PEX10	ORPHA:912
HP:0000924	Abnormality of the skeletal system	861	RUNX1	ORPHA:98850
HP:0000924	Abnormality of the skeletal system	79577	CDC73	ORPHA:143
HP:0000924	Abnormality of the skeletal system	79577	CDC73	ORPHA:99880
HP:0000924	Abnormality of the skeletal system	23095	KIF1B	OMIM:256700
HP:0000924	Abnormality of the skeletal system	2304	FOXE1	ORPHA:319487
HP:0000924	Abnormality of the skeletal system	3026	HABP2	ORPHA:319487
HP:0000924	Abnormality of the skeletal system	9562	MINPP1	ORPHA:319487
HP:0000924	Abnormality of the skeletal system	1991	ELANE	ORPHA:2686
HP:0000924	Abnormality of the skeletal system	1175	AP2S1	OMIM:600740
HP:0000924	Abnormality of the skeletal system	7010	TEK	ORPHA:1059
HP:0000924	Abnormality of the skeletal system	89780	WNT3A	ORPHA:85193
HP:0000924	Abnormality of the skeletal system	8074	FGF23	ORPHA:89937
HP:0000924	Abnormality of the skeletal system	8074	FGF23	OMIM:193100
HP:0000924	Abnormality of the skeletal system	595	CCND1	ORPHA:29073
HP:0000924	Abnormality of the skeletal system	5345	SERPINF2	ORPHA:79
HP:0000924	Abnormality of the skeletal system	5371	PML	ORPHA:520
HP:0000924	Abnormality of the skeletal system	5914	RARA	ORPHA:520
HP:0000924	Abnormality of the skeletal system	359948	IRF2BP2	ORPHA:520
HP:0000924	Abnormality of the skeletal system	81608	FIP1L1	ORPHA:520
HP:0000924	Abnormality of the skeletal system	64859	NABP1	ORPHA:520
HP:0000924	Abnormality of the skeletal system	6777	STAT5B	ORPHA:520
HP:0000924	Abnormality of the skeletal system	4926	NUMA1	ORPHA:520
HP:0000924	Abnormality of the skeletal system	7704	ZBTB16	ORPHA:520
HP:0000924	Abnormality of the skeletal system	57592	ZNF687	OMIM:616833
HP:0000924	Abnormality of the skeletal system	3313	HSPA9	OMIM:616854
HP:0000924	Abnormality of the skeletal system	9368	NHERF1	OMIM:612287
HP:0000924	Abnormality of the skeletal system	8622	PDE8B	ORPHA:189439
HP:0000924	Abnormality of the skeletal system	50940	PDE11A	ORPHA:189439
HP:0000924	Abnormality of the skeletal system	54790	TET2	ORPHA:98849
HP:0000924	Abnormality of the skeletal system	6427	SRSF2	ORPHA:98849
HP:0000924	Abnormality of the skeletal system	79798	ARMC5	ORPHA:189427
HP:0000924	Abnormality of the skeletal system	1962	EHHADH	ORPHA:3337
HP:0000924	Abnormality of the skeletal system	2628	GATM	ORPHA:3337
HP:0000924	Abnormality of the skeletal system	137682	NDUFAF6	ORPHA:3337
HP:0000924	Abnormality of the skeletal system	80025	PANK2	ORPHA:216866
HP:0000924	Abnormality of the skeletal system	55151	TMEM38B	OMIM:615066
HP:0000924	Abnormality of the skeletal system	85446	ZFHX2	OMIM:147430
HP:0000924	Abnormality of the skeletal system	4358	MPV17	OMIM:256810
HP:0000924	Abnormality of the skeletal system	23761	PISD	OMIM:618889
HP:0000924	Abnormality of the skeletal system	1029	CDKN2A	ORPHA:524
HP:0000924	Abnormality of the skeletal system	4193	MDM2	ORPHA:524
HP:0000924	Abnormality of the skeletal system	7080	NKX2-1	ORPHA:209905
HP:0000924	Abnormality of the skeletal system	8985	PLOD3	OMIM:612394
HP:0000924	Abnormality of the skeletal system	4591	TRIM37	OMIM:253250
HP:0000924	Abnormality of the skeletal system	4591	TRIM37	ORPHA:2576
HP:0000924	Abnormality of the skeletal system	4524	MTHFR	ORPHA:563612
HP:0000924	Abnormality of the skeletal system	57216	VANGL2	ORPHA:563612
HP:0000924	Abnormality of the skeletal system	5162	PDHB	ORPHA:255138
HP:0000924	Abnormality of the skeletal system	6591	SNAI2	ORPHA:2884
HP:0000924	Abnormality of the skeletal system	3815	KIT	ORPHA:2884
HP:0000924	Abnormality of the skeletal system	166929	SGMS2	OMIM:126550
HP:0000924	Abnormality of the skeletal system	7252	TSHB	ORPHA:90674
HP:0000924	Abnormality of the skeletal system	29899	GPSM2	OMIM:604213
HP:0000924	Abnormality of the skeletal system	570	BAAT	OMIM:619232
HP:0000924	Abnormality of the skeletal system	6718	AKR1D1	ORPHA:79303
HP:0000924	Abnormality of the skeletal system	9414	TJP2	OMIM:607748
HP:0000924	Abnormality of the skeletal system	3172	HNF4A	OMIM:616026
HP:0000924	Abnormality of the skeletal system	50617	ATP6V0A4	OMIM:602722
HP:0000924	Abnormality of the skeletal system	2693	GHSR	OMIM:615925
HP:0000924	Abnormality of the skeletal system	2693	GHSR	ORPHA:314811
HP:0000924	Abnormality of the skeletal system	79048	SECISBP2	OMIM:609698
HP:0000924	Abnormality of the skeletal system	79048	SECISBP2	ORPHA:171706
HP:0000924	Abnormality of the skeletal system	3483	IGFALS	ORPHA:140941
HP:0000924	Abnormality of the skeletal system	55366	LGR4	OMIM:619613
HP:0000924	Abnormality of the skeletal system	402381	SOHLH1	OMIM:617690
HP:0000924	Abnormality of the skeletal system	11261	CHP1	OMIM:618438
HP:0000924	Abnormality of the skeletal system	2488	FSHB	OMIM:229070
HP:0000924	Abnormality of the skeletal system	2488	FSHB	ORPHA:52901
HP:0000924	Abnormality of the skeletal system	7201	TRHR	ORPHA:99832
HP:0000924	Abnormality of the skeletal system	7201	TRHR	OMIM:618573
HP:0000924	Abnormality of the skeletal system	4509	MT-ATP8	ORPHA:480
HP:0000924	Abnormality of the skeletal system	4567	MT-TL1	ORPHA:480
HP:0000924	Abnormality of the skeletal system	6307	MSMO1	OMIM:616834
HP:0000924	Abnormality of the skeletal system	5122	PCSK1	ORPHA:71528
HP:0000924	Abnormality of the skeletal system	5443	POMC	ORPHA:71526
HP:0000924	Abnormality of the skeletal system	7200	TRH	OMIM:275120
HP:0000924	Abnormality of the skeletal system	254394	MCM9	OMIM:616185
HP:0000924	Abnormality of the skeletal system	2692	GHRHR	OMIM:618157
HP:0000924	Abnormality of the skeletal system	4780	NFE2L2	OMIM:617744
HP:0000924	Abnormality of the skeletal system	55599	RNPC3	OMIM:618160
HP:0000924	Abnormality of the skeletal system	6834	SURF1	OMIM:616684
HP:0000924	Abnormality of the skeletal system	3149	HMGB3	OMIM:300915
HP:0000924	Abnormality of the skeletal system	1763	DNA2	OMIM:615807
HP:0000924	Abnormality of the skeletal system	9147	NEMF	OMIM:619099
HP:0000924	Abnormality of the skeletal system	2744	GLS	OMIM:618339
HP:0000924	Abnormality of the skeletal system	10382	TUBB4A	ORPHA:98805
HP:0000924	Abnormality of the skeletal system	4137	MAPT	OMIM:260540
HP:0000924	Abnormality of the skeletal system	3689	ITGB2	OMIM:116920
HP:0000924	Abnormality of the skeletal system	4688	NCF2	OMIM:233710
HP:0000924	Abnormality of the skeletal system	1786	DNMT1	OMIM:614116
HP:0000924	Abnormality of the skeletal system	5966	REL	OMIM:619652
HP:0000924	Abnormality of the skeletal system	1535	CYBA	OMIM:233690
HP:0000924	Abnormality of the skeletal system	1536	CYBB	OMIM:306400
HP:0000924	Abnormality of the skeletal system	9517	SPTLC2	ORPHA:36386
HP:0000924	Abnormality of the skeletal system	7841	MOGS	OMIM:606056
HP:0000924	Abnormality of the skeletal system	3703	STT3A	OMIM:619714
HP:0000924	Abnormality of the skeletal system	2158	F9	OMIM:306900
HP:0000924	Abnormality of the skeletal system	7390	UROS	OMIM:263700
HP:0000924	Abnormality of the skeletal system	7390	UROS	ORPHA:79277
HP:0000924	Abnormality of the skeletal system	7389	UROD	ORPHA:95159
HP:0000924	Abnormality of the skeletal system	7443	VRK1	OMIM:607596
HP:0000924	Abnormality of the skeletal system	1020	CDK5	OMIM:616342
HP:0000924	Abnormality of the skeletal system	23287	AGTPBP1	ORPHA:2254
HP:0000924	Abnormality of the skeletal system	3800	KIF5C	OMIM:615282
HP:0000924	Abnormality of the skeletal system	91574	MTRFR	ORPHA:320375
HP:0000924	Abnormality of the skeletal system	2303	FOXC2	OMIM:153400
HP:0000924	Abnormality of the skeletal system	7167	TPI1	OMIM:615512
HP:0000924	Abnormality of the skeletal system	91875	TTC5	OMIM:619244
HP:0000924	Abnormality of the skeletal system	55703	POLR3B	OMIM:614381
HP:0000924	Abnormality of the skeletal system	23499	MACF1	ORPHA:572013
HP:0000924	Abnormality of the skeletal system	23396	PIP5K1C	OMIM:611369
HP:0000924	Abnormality of the skeletal system	9499	MYOT	ORPHA:98911
HP:0000924	Abnormality of the skeletal system	5981	RFC1	ORPHA:504476
HP:0000924	Abnormality of the skeletal system	57156	TMEM63C	OMIM:619966
HP:0000924	Abnormality of the skeletal system	3991	LIPE	OMIM:615980
HP:0000924	Abnormality of the skeletal system	10126	DNAL4	ORPHA:238722
HP:0000924	Abnormality of the skeletal system	9423	NTN1	ORPHA:238722
HP:0000924	Abnormality of the skeletal system	284086	NEK8	OMIM:615415
HP:0000924	Abnormality of the skeletal system	1576	CYP3A4	OMIM:619073
HP:0000924	Abnormality of the skeletal system	286053	NSMCE2	OMIM:617253
HP:0000924	Abnormality of the skeletal system	6424	SFRP4	OMIM:265900
HP:0000924	Abnormality of the skeletal system	65082	VPS33A	OMIM:617303
HP:0000924	Abnormality of the skeletal system	4318	MMP9	OMIM:613073
HP:0000924	Abnormality of the skeletal system	3425	IDUA	OMIM:607014
HP:0000924	Abnormality of the skeletal system	1294	COL7A1	ORPHA:89843
HP:0000924	Abnormality of the skeletal system	1758	DMP1	ORPHA:289176
HP:0000924	Abnormality of the skeletal system	567	B2M	OMIM:241600
HP:0000924	Abnormality of the skeletal system	5479	PPIB	OMIM:259440
HP:0000924	Abnormality of the skeletal system	7471	WNT1	OMIM:615220
HP:0000924	Abnormality of the skeletal system	9663	LPIN2	ORPHA:77297
HP:0000924	Abnormality of the skeletal system	26503	SLC17A5	OMIM:269920
HP:0000924	Abnormality of the skeletal system	846	CASR	OMIM:239200
HP:0000924	Abnormality of the skeletal system	9382	COG1	OMIM:611209
HP:0000924	Abnormality of the skeletal system	9382	COG1	ORPHA:263508
HP:0000924	Abnormality of the skeletal system	90993	CREB3L1	OMIM:616229
HP:0000924	Abnormality of the skeletal system	55191	NADSYN1	OMIM:618845
HP:0000924	Abnormality of the skeletal system	51025	PAM16	OMIM:613320
HP:0000924	Abnormality of the skeletal system	3560	IL2RB	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	79722	ANKRD55	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	26191	PTPN22	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	919	CD247	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	3559	IL2RA	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	5771	PTPN2	ORPHA:85410
HP:0000924	Abnormality of the skeletal system	7421	VDR	OMIM:277440
HP:0000924	Abnormality of the skeletal system	120227	CYP2R1	OMIM:600081
HP:0000924	Abnormality of the skeletal system	120227	CYP2R1	ORPHA:289157
HP:0000924	Abnormality of the skeletal system	1594	CYP27B1	OMIM:264700
HP:0000924	Abnormality of the skeletal system	1594	CYP27B1	ORPHA:289157
HP:0000924	Abnormality of the skeletal system	1184	CLCN5	OMIM:300554
HP:0000924	Abnormality of the skeletal system	1184	CLCN5	OMIM:300009
HP:0000924	Abnormality of the skeletal system	4625	MYH7	ORPHA:437572
HP:0000924	Abnormality of the skeletal system	142680	SLC34A3	OMIM:241530
HP:0000924	Abnormality of the skeletal system	760	CA2	OMIM:259730
HP:0000924	Abnormality of the skeletal system	8600	TNFSF11	OMIM:259710
HP:0000924	Abnormality of the skeletal system	4233	MET	OMIM:607278
HP:0000924	Abnormality of the skeletal system	56172	ANKH	OMIM:118600
HP:0000924	Abnormality of the skeletal system	2157	F8	ORPHA:169805
HP:0000924	Abnormality of the skeletal system	1777	DNASE2	OMIM:619858
HP:0000924	Abnormality of the skeletal system	249	ALPL	OMIM:146300
HP:0000924	Abnormality of the skeletal system	654	BMP6	ORPHA:465508
HP:0000924	Abnormality of the skeletal system	3077	HFE	ORPHA:465508
HP:0000924	Abnormality of the skeletal system	3077	HFE	OMIM:235200
HP:0000924	Abnormality of the skeletal system	57817	HAMP	ORPHA:79230
HP:0000924	Abnormality of the skeletal system	148738	HJV	ORPHA:79230
HP:0000924	Abnormality of the skeletal system	4803	NGF	OMIM:608654
HP:0000924	Abnormality of the skeletal system	5621	PRNP	ORPHA:157941
HP:0000924	Abnormality of the skeletal system	3714	JAG2	OMIM:619566
HP:0000924	Abnormality of the skeletal system	7138	TNNT1	ORPHA:98902
HP:0000924	Abnormality of the skeletal system	7138	TNNT1	OMIM:605355
HP:0000924	Abnormality of the skeletal system	339855	KY	OMIM:617114
HP:0000924	Abnormality of the skeletal system	57498	KIDINS220	OMIM:619501
HP:0000924	Abnormality of the skeletal system	6137	RPL13	OMIM:618728
HP:0000924	Abnormality of the skeletal system	7473	WNT3	OMIM:273395
HP:0000924	Abnormality of the skeletal system	7473	WNT3	ORPHA:3301
HP:0000924	Abnormality of the skeletal system	340419	RSPO2	ORPHA:3301
HP:0000924	Abnormality of the skeletal system	7040	TGFB1	ORPHA:1328
HP:0000924	Abnormality of the skeletal system	10804	GJB6	ORPHA:477
HP:0000924	Abnormality of the skeletal system	2706	GJB2	ORPHA:477
HP:0000924	Abnormality of the skeletal system	55148	UBR7	OMIM:619189
HP:0000924	Abnormality of the skeletal system	6812	STXBP1	ORPHA:495818
HP:0000924	Abnormality of the skeletal system	10082	GPC6	OMIM:258315
HP:0000924	Abnormality of the skeletal system	6326	SCN2A	ORPHA:33069
HP:0000924	Abnormality of the skeletal system	6326	SCN2A	ORPHA:36387
HP:0000924	Abnormality of the skeletal system	2554	GABRA1	ORPHA:33069
HP:0000924	Abnormality of the skeletal system	6324	SCN1B	ORPHA:33069
HP:0000924	Abnormality of the skeletal system	6324	SCN1B	ORPHA:36387
HP:0000924	Abnormality of the skeletal system	57526	PCDH19	ORPHA:33069
HP:0000924	Abnormality of the skeletal system	2566	GABRG2	ORPHA:33069
HP:0000924	Abnormality of the skeletal system	2566	GABRG2	ORPHA:36387
HP:0000924	Abnormality of the skeletal system	112755	STX1B	ORPHA:36387
HP:0000924	Abnormality of the skeletal system	348980	HCN1	ORPHA:36387
HP:0000924	Abnormality of the skeletal system	145258	GSC	OMIM:602471
HP:0000924	Abnormality of the skeletal system	3899	AFF3	OMIM:619297
HP:0000924	Abnormality of the skeletal system	6904	TBCD	ORPHA:496641
HP:0000924	Abnormality of the skeletal system	8878	SQSTM1	OMIM:167250
HP:0000924	Abnormality of the skeletal system	4507	MTAP	OMIM:112250
HP:0000924	Abnormality of the skeletal system	5879	RAC1	ORPHA:500159
HP:0000924	Abnormality of the skeletal system	55768	NGLY1	ORPHA:404454
HP:0000924	Abnormality of the skeletal system	65992	DDRGK1	ORPHA:93352
HP:0000924	Abnormality of the skeletal system	2273	FHL1	OMIM:300696
HP:0000924	Abnormality of the skeletal system	57190	SELENON	ORPHA:97244
HP:0000924	Abnormality of the skeletal system	1756	DMD	OMIM:310200
HP:0000924	Abnormality of the skeletal system	4976	OPA1	OMIM:210000
HP:0000924	Abnormality of the skeletal system	4522	MTHFD1	OMIM:617780
HP:0000924	Abnormality of the skeletal system	4615	MYD88	OMIM:612260
HP:0000924	Abnormality of the skeletal system	3426	CFI	OMIM:610984
HP:0000924	Abnormality of the skeletal system	2222	FDFT1	OMIM:618156
HP:0000924	Abnormality of the skeletal system	3035	HARS1	ORPHA:488333
HP:0000924	Abnormality of the skeletal system	51574	LARP7	ORPHA:319671
HP:0000924	Abnormality of the skeletal system	341208	HEPHL1	OMIM:261990
HP:0000924	Abnormality of the skeletal system	5824	PEX19	OMIM:614886
HP:0000924	Abnormality of the skeletal system	6916	TBXAS1	ORPHA:1802
HP:0000924	Abnormality of the skeletal system	9276	COPB2	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	9928	KIF14	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	284403	WDR62	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	84879	MFSD2A	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	4176	MCM7	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	29081	METTL5	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	23310	NCAPD3	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	259266	ASPM	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	7109	TRAPPC10	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	1911	PHC1	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	6884	TAF13	ORPHA:2512
HP:0000924	Abnormality of the skeletal system	51102	MECR	OMIM:617282
HP:0000924	Abnormality of the skeletal system	3074	HEXB	ORPHA:309162
HP:0000924	Abnormality of the skeletal system	57679	ALS2	OMIM:205100
HP:0000924	Abnormality of the skeletal system	55131	RBM28	OMIM:612079
HP:0000924	Abnormality of the skeletal system	51091	SEPSECS	OMIM:613811
HP:0000924	Abnormality of the skeletal system	819	CAMLG	OMIM:620201
HP:0000924	Abnormality of the skeletal system	1308	COL17A1	ORPHA:251393
HP:0000924	Abnormality of the skeletal system	83879	CDCA7	OMIM:616910
HP:0000924	Abnormality of the skeletal system	8106	PABPN1	ORPHA:270
HP:0000924	Abnormality of the skeletal system	92667	MGME1	ORPHA:352447
HP:0000924	Abnormality of the skeletal system	92667	MGME1	OMIM:615084
HP:0000924	Abnormality of the skeletal system	22947	DUX4L1	ORPHA:269
HP:0000924	Abnormality of the skeletal system	1789	DNMT3B	ORPHA:269
HP:0000924	Abnormality of the skeletal system	2483	FRG1	ORPHA:269
HP:0000924	Abnormality of the skeletal system	23347	SMCHD1	ORPHA:269
HP:0000924	Abnormality of the skeletal system	100288687	DUX4	ORPHA:269
HP:0000924	Abnormality of the skeletal system	9907	AP5Z1	ORPHA:306511
HP:0000924	Abnormality of the skeletal system	10661	KLF1	ORPHA:46532
HP:0000924	Abnormality of the skeletal system	3047	HBG1	ORPHA:46532
HP:0000924	Abnormality of the skeletal system	3048	HBG2	ORPHA:46532
HP:0000924	Abnormality of the skeletal system	4771	NF2	ORPHA:2495
HP:0000924	Abnormality of the skeletal system	5589	PRKCSH	OMIM:174050
HP:0000924	Abnormality of the skeletal system	5589	PRKCSH	ORPHA:2924
HP:0000924	Abnormality of the skeletal system	56606	SLC2A9	ORPHA:94088
HP:0000924	Abnormality of the skeletal system	116085	SLC22A12	ORPHA:94088
HP:0000924	Abnormality of the skeletal system	3075	CFH	ORPHA:244242
HP:0000924	Abnormality of the skeletal system	4179	CD46	ORPHA:244242
HP:0000924	Abnormality of the skeletal system	101101692	HELLPAR	ORPHA:244242
HP:0000924	Abnormality of the skeletal system	11231	SEC63	ORPHA:2924
HP:0000924	Abnormality of the skeletal system	7428	VHL	ORPHA:892
HP:0000924	Abnormality of the skeletal system	5921	RASA1	ORPHA:90307
HP:0000924	Abnormality of the skeletal system	285282	RABL3	ORPHA:1333
HP:0000924	Abnormality of the skeletal system	23022	PALLD	ORPHA:1333
HP:0000924	Abnormality of the skeletal system	1371	CPOX	ORPHA:79273
HP:0000924	Abnormality of the skeletal system	9096	TBX18	OMIM:143400
HP:0000924	Abnormality of the skeletal system	5498	PPOX	ORPHA:79473
HP:0000924	Abnormality of the skeletal system	3145	HMBS	ORPHA:79276
HP:0000924	Abnormality of the skeletal system	4665	NAB2	ORPHA:2126
HP:0000924	Abnormality of the skeletal system	6778	STAT6	ORPHA:2126
HP:0000924	Abnormality of the skeletal system	311	ANXA11	OMIM:619733
HP:0000924	Abnormality of the skeletal system	6443	SGCB	OMIM:604286
HP:0000924	Abnormality of the skeletal system	2992	GYG1	OMIM:613507
HP:0000924	Abnormality of the skeletal system	6444	SGCD	OMIM:601287
HP:0000924	Abnormality of the skeletal system	6444	SGCD	ORPHA:219
HP:0000924	Abnormality of the skeletal system	55791	LRIF1	OMIM:619477
HP:0000924	Abnormality of the skeletal system	23676	SMPX	OMIM:301075
HP:0000924	Abnormality of the skeletal system	5332	PLCB4	OMIM:614669
HP:0000924	Abnormality of the skeletal system	3166	HMX1	OMIM:612109
HP:0000924	Abnormality of the skeletal system	64175	P3H1	OMIM:610915
HP:0000924	Abnormality of the skeletal system	3417	IDH1	ORPHA:99646
HP:0000924	Abnormality of the skeletal system	2099	ESR1	ORPHA:785
HP:0000924	Abnormality of the skeletal system	375	ARF1	ORPHA:98892
HP:0000924	Abnormality of the skeletal system	160418	TMTC3	ORPHA:98892
HP:0000924	Abnormality of the skeletal system	10564	ARFGEF2	ORPHA:98892
HP:0000924	Abnormality of the skeletal system	55780	ERMARD	ORPHA:98892
HP:0000924	Abnormality of the skeletal system	26175	LYSET	OMIM:619345
HP:0000924	Abnormality of the skeletal system	11253	MAN1B1	ORPHA:397941
HP:0000924	Abnormality of the skeletal system	11253	MAN1B1	OMIM:614202
HP:0000924	Abnormality of the skeletal system	340533	NEXMIF	OMIM:300912
HP:0000924	Abnormality of the skeletal system	1139	CHRNA7	ORPHA:199318
HP:0000924	Abnormality of the skeletal system	1139	CHRNA7	OMIM:612001
HP:0000924	Abnormality of the skeletal system	2132	EXT2	OMIM:616682
HP:0000924	Abnormality of the skeletal system	23135	KDM6B	OMIM:618505
HP:0000924	Abnormality of the skeletal system	6659	SOX4	OMIM:618506
HP:0000924	Abnormality of the skeletal system	1947	EFNB1	ORPHA:1520
HP:0000924	Abnormality of the skeletal system	1947	EFNB1	OMIM:304110
HP:0000924	Abnormality of the skeletal system	4010	LMX1B	ORPHA:2614
HP:0000924	Abnormality of the skeletal system	4010	LMX1B	OMIM:161200
HP:0000924	Abnormality of the skeletal system	10054	UBA2	OMIM:619959
HP:0000924	Abnormality of the skeletal system	51126	NAA20	OMIM:619717
HP:0000924	Abnormality of the skeletal system	9820	CUL7	ORPHA:2616
HP:0000924	Abnormality of the skeletal system	9820	CUL7	OMIM:273750
HP:0000924	Abnormality of the skeletal system	23363	OBSL1	ORPHA:2616
HP:0000924	Abnormality of the skeletal system	83987	CCDC8	ORPHA:2616
HP:0000924	Abnormality of the skeletal system	83987	CCDC8	OMIM:614205
HP:0000924	Abnormality of the skeletal system	7021	TFAP2B	OMIM:169100
HP:0000924	Abnormality of the skeletal system	7021	TFAP2B	ORPHA:46627
HP:0000924	Abnormality of the skeletal system	7021	TFAP2B	OMIM:617035
HP:0000924	Abnormality of the skeletal system	3481	IGF2	ORPHA:231140
HP:0000924	Abnormality of the skeletal system	3481	IGF2	ORPHA:231144
HP:0000924	Abnormality of the skeletal system	3481	IGF2	OMIM:616489
HP:0000924	Abnormality of the skeletal system	3481	IGF2	OMIM:180860
HP:0000924	Abnormality of the skeletal system	3481	IGF2	ORPHA:397590
HP:0000924	Abnormality of the skeletal system	283120	H19	ORPHA:231140
HP:0000924	Abnormality of the skeletal system	283120	H19	ORPHA:231144
HP:0000924	Abnormality of the skeletal system	197131	UBR1	OMIM:243800
HP:0000924	Abnormality of the skeletal system	5932	RBBP8	OMIM:606744
HP:0000924	Abnormality of the skeletal system	5932	RBBP8	ORPHA:808
HP:0000924	Abnormality of the skeletal system	4286	MITF	OMIM:617306
HP:0000924	Abnormality of the skeletal system	23384	SPECC1L	ORPHA:1519
HP:0000924	Abnormality of the skeletal system	112752	IFT43	ORPHA:1515
HP:0000924	Abnormality of the skeletal system	51098	IFT52	ORPHA:1515
HP:0000924	Abnormality of the skeletal system	55764	IFT122	ORPHA:1515
HP:0000924	Abnormality of the skeletal system	57728	WDR19	ORPHA:1515
HP:0000924	Abnormality of the skeletal system	55636	CHD7	ORPHA:138
HP:0000924	Abnormality of the skeletal system	9723	SEMA3E	ORPHA:138
HP:0000924	Abnormality of the skeletal system	90	ACVR1	OMIM:135100
HP:0000924	Abnormality of the skeletal system	90	ACVR1	ORPHA:337
HP:0000924	Abnormality of the skeletal system	3190	HNRNPK	OMIM:616580
HP:0000924	Abnormality of the skeletal system	54880	BCOR	ORPHA:2712
HP:0000924	Abnormality of the skeletal system	54880	BCOR	ORPHA:568
HP:0000924	Abnormality of the skeletal system	10606	PAICS	OMIM:619859
HP:0000924	Abnormality of the skeletal system	1009	CDH11	OMIM:619736
HP:0000924	Abnormality of the skeletal system	652	BMP4	OMIM:607932
HP:0000924	Abnormality of the skeletal system	1301	COL11A1	OMIM:228520
HP:0000924	Abnormality of the skeletal system	1301	COL11A1	OMIM:154780
HP:0000924	Abnormality of the skeletal system	23327	NEDD4L	OMIM:617201
HP:0000924	Abnormality of the skeletal system	7291	TWIST1	OMIM:101400
HP:0000924	Abnormality of the skeletal system	7291	TWIST1	ORPHA:794
HP:0000924	Abnormality of the skeletal system	3981	LIG4	ORPHA:235
HP:0000924	Abnormality of the skeletal system	3981	LIG4	ORPHA:99812
HP:0000924	Abnormality of the skeletal system	3981	LIG4	OMIM:606593
HP:0000924	Abnormality of the skeletal system	54888	NSUN2	ORPHA:235
HP:0000924	Abnormality of the skeletal system	1182	CLCN3	OMIM:619512
HP:0000924	Abnormality of the skeletal system	85301	COL27A1	OMIM:615155
HP:0000924	Abnormality of the skeletal system	5048	PAFAH1B1	ORPHA:217385
HP:0000924	Abnormality of the skeletal system	5048	PAFAH1B1	ORPHA:531
HP:0000924	Abnormality of the skeletal system	7531	YWHAE	ORPHA:217385
HP:0000924	Abnormality of the skeletal system	7531	YWHAE	ORPHA:531
HP:0000924	Abnormality of the skeletal system	2121	EVC	OMIM:193530
HP:0000924	Abnormality of the skeletal system	2121	EVC	ORPHA:952
HP:0000924	Abnormality of the skeletal system	132884	EVC2	OMIM:193530
HP:0000924	Abnormality of the skeletal system	132884	EVC2	ORPHA:952
HP:0000924	Abnormality of the skeletal system	8364	H4C3	OMIM:619758
HP:0000924	Abnormality of the skeletal system	5590	PRKCZ	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	2563	GABRD	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	8510	MMP23B	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	7798	LUZP1	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	6497	SKI	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	10630	PDPN	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	3339	HSPG2	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	10277	UBE4B	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	8514	KCNAB2	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	473	RERE	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	473	RERE	OMIM:616975
HP:0000924	Abnormality of the skeletal system	63976	PRDM16	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	54897	CASZ1	ORPHA:1606
HP:0000924	Abnormality of the skeletal system	641	BLM	OMIM:210900
HP:0000924	Abnormality of the skeletal system	57492	ARID1B	ORPHA:251056
HP:0000924	Abnormality of the skeletal system	57492	ARID1B	OMIM:135900
HP:0000924	Abnormality of the skeletal system	63895	PIEZO2	ORPHA:376
HP:0000924	Abnormality of the skeletal system	23314	SATB2	ORPHA:576283
HP:0000924	Abnormality of the skeletal system	23314	SATB2	ORPHA:251028
HP:0000924	Abnormality of the skeletal system	23314	SATB2	ORPHA:251019
HP:0000924	Abnormality of the skeletal system	2239	GPC4	ORPHA:373
HP:0000924	Abnormality of the skeletal system	2239	GPC4	ORPHA:2662
HP:0000924	Abnormality of the skeletal system	2719	GPC3	ORPHA:373
HP:0000924	Abnormality of the skeletal system	23162	MAPK8IP3	OMIM:618443
HP:0000924	Abnormality of the skeletal system	2317	FLNB	OMIM:272460
HP:0000924	Abnormality of the skeletal system	79087	ALG12	ORPHA:79324
HP:0000924	Abnormality of the skeletal system	6473	SHOX	ORPHA:240
HP:0000924	Abnormality of the skeletal system	26100	WIPI2	OMIM:618453
HP:0000924	Abnormality of the skeletal system	10533	ATG7	OMIM:619422
HP:0000924	Abnormality of the skeletal system	8295	TRRAP	OMIM:618454
HP:0000924	Abnormality of the skeletal system	9742	IFT140	OMIM:266920
HP:0000924	Abnormality of the skeletal system	7227	TRPS1	ORPHA:77258
HP:0000924	Abnormality of the skeletal system	3479	IGF1	ORPHA:73272
HP:0000924	Abnormality of the skeletal system	3479	IGF1	OMIM:608747
HP:0000924	Abnormality of the skeletal system	650	BMP2	OMIM:112600
HP:0000924	Abnormality of the skeletal system	650	BMP2	ORPHA:93396
HP:0000924	Abnormality of the skeletal system	650	BMP2	OMIM:617877
HP:0000924	Abnormality of the skeletal system	6477	SIAH1	OMIM:619314
HP:0000924	Abnormality of the skeletal system	8473	OGT	OMIM:300997
HP:0000924	Abnormality of the skeletal system	1798	DPAGT1	OMIM:608093
HP:0000924	Abnormality of the skeletal system	100151683	RNU4ATAC	ORPHA:353298
HP:0000924	Abnormality of the skeletal system	100151683	RNU4ATAC	OMIM:226960
HP:0000924	Abnormality of the skeletal system	100151683	RNU4ATAC	OMIM:616651
HP:0000924	Abnormality of the skeletal system	100151683	RNU4ATAC	ORPHA:2636
HP:0000924	Abnormality of the skeletal system	117581	TWIST2	OMIM:200110
HP:0000924	Abnormality of the skeletal system	117581	TWIST2	OMIM:209885
HP:0000924	Abnormality of the skeletal system	23030	KDM4B	OMIM:619320
HP:0000924	Abnormality of the skeletal system	9126	SMC3	OMIM:610759
HP:0000924	Abnormality of the skeletal system	9126	SMC3	ORPHA:199
HP:0000924	Abnormality of the skeletal system	1725	DHPS	OMIM:618480
HP:0000924	Abnormality of the skeletal system	55777	MBD5	OMIM:156200
HP:0000924	Abnormality of the skeletal system	55777	MBD5	ORPHA:228402
HP:0000924	Abnormality of the skeletal system	5980	REV3L	ORPHA:570
HP:0000924	Abnormality of the skeletal system	23129	PLXND1	ORPHA:570
HP:0000924	Abnormality of the skeletal system	4784	NFIX	OMIM:602535
HP:0000924	Abnormality of the skeletal system	4998	ORC1	OMIM:224690
HP:0000924	Abnormality of the skeletal system	4998	ORC1	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	4052	LTBP1	OMIM:619451
HP:0000924	Abnormality of the skeletal system	8260	NAA10	OMIM:300855
HP:0000924	Abnormality of the skeletal system	8260	NAA10	ORPHA:568
HP:0000924	Abnormality of the skeletal system	9496	TBX4	ORPHA:261279
HP:0000924	Abnormality of the skeletal system	8091	HMGA2	ORPHA:94063
HP:0000924	Abnormality of the skeletal system	8091	HMGA2	ORPHA:397590
HP:0000924	Abnormality of the skeletal system	164	AP1G1	OMIM:619467
HP:0000924	Abnormality of the skeletal system	5283	PIGH	OMIM:618010
HP:0000924	Abnormality of the skeletal system	50801	KCNK4	OMIM:618381
HP:0000924	Abnormality of the skeletal system	9757	KMT2B	ORPHA:589618
HP:0000924	Abnormality of the skeletal system	4613	MYCN	ORPHA:391641
HP:0000924	Abnormality of the skeletal system	57003	CCDC47	OMIM:618268
HP:0000924	Abnormality of the skeletal system	5977	DPF2	OMIM:618027
HP:0000924	Abnormality of the skeletal system	94005	PIGS	OMIM:618143
HP:0000924	Abnormality of the skeletal system	145173	B3GLCT	OMIM:261540
HP:0000924	Abnormality of the skeletal system	145173	B3GLCT	ORPHA:709
HP:0000924	Abnormality of the skeletal system	92002	CCNQ	OMIM:300707
HP:0000924	Abnormality of the skeletal system	92002	CCNQ	ORPHA:140952
HP:0000924	Abnormality of the skeletal system	285590	SH3PXD2B	ORPHA:137834
HP:0000924	Abnormality of the skeletal system	526	ATP6V1B2	ORPHA:79500
HP:0000924	Abnormality of the skeletal system	57465	TBC1D24	ORPHA:79500
HP:0000924	Abnormality of the skeletal system	57465	TBC1D24	OMIM:220500
HP:0000924	Abnormality of the skeletal system	5728	PTEN	ORPHA:744
HP:0000924	Abnormality of the skeletal system	207	AKT1	ORPHA:744
HP:0000924	Abnormality of the skeletal system	2887	GRB10	ORPHA:96182
HP:0000924	Abnormality of the skeletal system	1457	CSNK2A1	OMIM:617062
HP:0000924	Abnormality of the skeletal system	51715	RAB23	OMIM:201000
HP:0000924	Abnormality of the skeletal system	28952	CCDC22	OMIM:300963
HP:0000924	Abnormality of the skeletal system	90416	CCDC32	OMIM:619123
HP:0000924	Abnormality of the skeletal system	8450	CUL4B	ORPHA:85293
HP:0000924	Abnormality of the skeletal system	55717	WDR11	OMIM:620237
HP:0000924	Abnormality of the skeletal system	118924	FRA10AC1	OMIM:620113
HP:0000924	Abnormality of the skeletal system	22995	CEP152	OMIM:613823
HP:0000924	Abnormality of the skeletal system	22995	CEP152	ORPHA:808
HP:0000924	Abnormality of the skeletal system	3549	IHH	OMIM:112500
HP:0000924	Abnormality of the skeletal system	3549	IHH	ORPHA:93388
HP:0000924	Abnormality of the skeletal system	3090	HIC1	ORPHA:531
HP:0000924	Abnormality of the skeletal system	10436	EMG1	OMIM:211180
HP:0000924	Abnormality of the skeletal system	10436	EMG1	ORPHA:1270
HP:0000924	Abnormality of the skeletal system	23387	SIK3	OMIM:618162
HP:0000924	Abnormality of the skeletal system	10084	PQBP1	OMIM:309500
HP:0000924	Abnormality of the skeletal system	5745	PTH1R	OMIM:156400
HP:0000924	Abnormality of the skeletal system	89970	RSPRY1	ORPHA:457395
HP:0000924	Abnormality of the skeletal system	9487	PIGL	OMIM:280000
HP:0000924	Abnormality of the skeletal system	22800	RRAS2	ORPHA:648
HP:0000924	Abnormality of the skeletal system	867	CBL	ORPHA:648
HP:0000924	Abnormality of the skeletal system	8216	LZTR1	ORPHA:648
HP:0000924	Abnormality of the skeletal system	6016	RIT1	ORPHA:648
HP:0000924	Abnormality of the skeletal system	6237	RRAS	ORPHA:648
HP:0000924	Abnormality of the skeletal system	5894	RAF1	ORPHA:648
HP:0000924	Abnormality of the skeletal system	22808	MRAS	ORPHA:648
HP:0000924	Abnormality of the skeletal system	3845	KRAS	ORPHA:648
HP:0000924	Abnormality of the skeletal system	200734	SPRED2	ORPHA:648
HP:0000924	Abnormality of the skeletal system	4893	NRAS	ORPHA:648
HP:0000924	Abnormality of the skeletal system	6654	SOS1	ORPHA:648
HP:0000924	Abnormality of the skeletal system	6655	SOS2	ORPHA:648
HP:0000924	Abnormality of the skeletal system	5781	PTPN11	ORPHA:648
HP:0000924	Abnormality of the skeletal system	5922	RASA2	ORPHA:648
HP:0000924	Abnormality of the skeletal system	23522	KAT6B	ORPHA:3047
HP:0000924	Abnormality of the skeletal system	6913	TBX15	OMIM:260660
HP:0000924	Abnormality of the skeletal system	79023	NUP37	OMIM:618179
HP:0000924	Abnormality of the skeletal system	375056	MIA3	OMIM:619269
HP:0000924	Abnormality of the skeletal system	27161	AGO2	OMIM:619149
HP:0000924	Abnormality of the skeletal system	5567	PRKACB	OMIM:619143
HP:0000924	Abnormality of the skeletal system	221927	BRAT1	OMIM:618056
HP:0000924	Abnormality of the skeletal system	8823	FGF16	OMIM:309630
HP:0000924	Abnormality of the skeletal system	5518	PPP2R1A	ORPHA:457284
HP:0000924	Abnormality of the skeletal system	161742	SPRED1	ORPHA:137605
HP:0000924	Abnormality of the skeletal system	7337	UBE3A	ORPHA:238446
HP:0000924	Abnormality of the skeletal system	1832	DSP	ORPHA:158687
HP:0000924	Abnormality of the skeletal system	1832	DSP	OMIM:609638
HP:0000924	Abnormality of the skeletal system	3728	JUP	ORPHA:158687
HP:0000924	Abnormality of the skeletal system	23241	PACS2	OMIM:618067
HP:0000924	Abnormality of the skeletal system	5885	RAD21	OMIM:614701
HP:0000924	Abnormality of the skeletal system	5885	RAD21	ORPHA:199
HP:0000924	Abnormality of the skeletal system	7518	XRCC4	ORPHA:99812
HP:0000924	Abnormality of the skeletal system	3209	HOXA13	OMIM:140000
HP:0000924	Abnormality of the skeletal system	3209	HOXA13	ORPHA:2438
HP:0000924	Abnormality of the skeletal system	8854	ALDH1A2	OMIM:620025
HP:0000924	Abnormality of the skeletal system	10274	STAG1	ORPHA:502434
HP:0000924	Abnormality of the skeletal system	9241	NOG	ORPHA:3250
HP:0000924	Abnormality of the skeletal system	9241	NOG	OMIM:186500
HP:0000924	Abnormality of the skeletal system	613	BCR	ORPHA:261330
HP:0000924	Abnormality of the skeletal system	1399	CRKL	ORPHA:261330
HP:0000924	Abnormality of the skeletal system	89910	UBE3B	OMIM:244450
HP:0000924	Abnormality of the skeletal system	2314	FLII	ORPHA:819
HP:0000924	Abnormality of the skeletal system	23096	IQSEC2	ORPHA:819
HP:0000924	Abnormality of the skeletal system	10743	RAI1	ORPHA:819
HP:0000924	Abnormality of the skeletal system	10522	DEAF1	ORPHA:819
HP:0000924	Abnormality of the skeletal system	150468	CKAP2L	ORPHA:3255
HP:0000924	Abnormality of the skeletal system	9184	BUB3	ORPHA:1052
HP:0000924	Abnormality of the skeletal system	699	BUB1	ORPHA:1052
HP:0000924	Abnormality of the skeletal system	699	BUB1	OMIM:620183
HP:0000924	Abnormality of the skeletal system	9702	CEP57	ORPHA:1052
HP:0000924	Abnormality of the skeletal system	9702	CEP57	OMIM:614114
HP:0000924	Abnormality of the skeletal system	9319	TRIP13	ORPHA:1052
HP:0000924	Abnormality of the skeletal system	701	BUB1B	ORPHA:1052
HP:0000924	Abnormality of the skeletal system	54476	RNF216	ORPHA:1173
HP:0000924	Abnormality of the skeletal system	10908	PNPLA6	ORPHA:1173
HP:0000924	Abnormality of the skeletal system	23036	ZNF292	OMIM:619188
HP:0000924	Abnormality of the skeletal system	51199	NIN	OMIM:614851
HP:0000924	Abnormality of the skeletal system	51199	NIN	ORPHA:319675
HP:0000924	Abnormality of the skeletal system	1954	MEGF8	OMIM:614976
HP:0000924	Abnormality of the skeletal system	1857	DVL3	ORPHA:3107
HP:0000924	Abnormality of the skeletal system	7474	WNT5A	ORPHA:3107
HP:0000924	Abnormality of the skeletal system	1855	DVL1	ORPHA:3107
HP:0000924	Abnormality of the skeletal system	2535	FZD2	ORPHA:3107
HP:0000924	Abnormality of the skeletal system	2535	FZD2	OMIM:164745
HP:0000924	Abnormality of the skeletal system	26053	AUTS2	OMIM:615834
HP:0000924	Abnormality of the skeletal system	2122	MECOM	ORPHA:71289
HP:0000924	Abnormality of the skeletal system	3207	HOXA11	ORPHA:71289
HP:0000924	Abnormality of the skeletal system	3207	HOXA11	OMIM:605432
HP:0000924	Abnormality of the skeletal system	81031	SLC2A10	ORPHA:3342
HP:0000924	Abnormality of the skeletal system	55165	CEP55	OMIM:236500
HP:0000924	Abnormality of the skeletal system	10236	HNRNPR	OMIM:620073
HP:0000924	Abnormality of the skeletal system	6628	SNRPB	ORPHA:1393
HP:0000924	Abnormality of the skeletal system	6628	SNRPB	OMIM:117650
HP:0000924	Abnormality of the skeletal system	1028	CDKN1C	ORPHA:397590
HP:0000924	Abnormality of the skeletal system	5324	PLAG1	ORPHA:397590
HP:0000924	Abnormality of the skeletal system	9555	MACROH2A1	ORPHA:1275
HP:0000924	Abnormality of the skeletal system	5307	PITX1	ORPHA:1275
HP:0000924	Abnormality of the skeletal system	5422	POLA1	ORPHA:163976
HP:0000924	Abnormality of the skeletal system	5422	POLA1	OMIM:301030
HP:0000924	Abnormality of the skeletal system	55906	ZC4H2	ORPHA:3454
HP:0000924	Abnormality of the skeletal system	10430	TMEM147	OMIM:620075
HP:0000924	Abnormality of the skeletal system	3187	HNRNPH1	OMIM:620083
HP:0000924	Abnormality of the skeletal system	23414	ZFPM2	OMIM:187500
HP:0000924	Abnormality of the skeletal system	23414	ZFPM2	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	1482	NKX2-5	OMIM:187500
HP:0000924	Abnormality of the skeletal system	1482	NKX2-5	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	182	JAG1	OMIM:187500
HP:0000924	Abnormality of the skeletal system	182	JAG1	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	6899	TBX1	OMIM:187500
HP:0000924	Abnormality of the skeletal system	6899	TBX1	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	2627	GATA6	OMIM:187500
HP:0000924	Abnormality of the skeletal system	2627	GATA6	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	545	ATR	ORPHA:808
HP:0000924	Abnormality of the skeletal system	545	ATR	OMIM:210600
HP:0000924	Abnormality of the skeletal system	1062	CENPE	ORPHA:808
HP:0000924	Abnormality of the skeletal system	5116	PCNT	ORPHA:808
HP:0000924	Abnormality of the skeletal system	5116	PCNT	OMIM:210720
HP:0000924	Abnormality of the skeletal system	5116	PCNT	ORPHA:2637
HP:0000924	Abnormality of the skeletal system	79902	NUP85	ORPHA:808
HP:0000924	Abnormality of the skeletal system	84126	ATRIP	ORPHA:808
HP:0000924	Abnormality of the skeletal system	55835	CENPJ	ORPHA:808
HP:0000924	Abnormality of the skeletal system	10293	TRAIP	ORPHA:808
HP:0000924	Abnormality of the skeletal system	10733	PLK4	ORPHA:808
HP:0000924	Abnormality of the skeletal system	29123	ANKRD11	OMIM:148050
HP:0000924	Abnormality of the skeletal system	9775	EIF4A3	OMIM:268305
HP:0000924	Abnormality of the skeletal system	2702	GJA5	OMIM:612474
HP:0000924	Abnormality of the skeletal system	2702	GJA5	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	2703	GJA8	OMIM:612474
HP:0000924	Abnormality of the skeletal system	4208	MEF2C	OMIM:613443
HP:0000924	Abnormality of the skeletal system	55690	PACS1	ORPHA:329224
HP:0000924	Abnormality of the skeletal system	22856	CHSY1	ORPHA:363417
HP:0000924	Abnormality of the skeletal system	51621	KLF13	OMIM:612001
HP:0000924	Abnormality of the skeletal system	5648	MASP1	OMIM:257920
HP:0000924	Abnormality of the skeletal system	11133	KPTN	OMIM:615637
HP:0000924	Abnormality of the skeletal system	11133	KPTN	ORPHA:397612
HP:0000924	Abnormality of the skeletal system	85358	SHANK3	OMIM:606232
HP:0000924	Abnormality of the skeletal system	85358	SHANK3	ORPHA:48652
HP:0000924	Abnormality of the skeletal system	137814	NKX2-6	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	3791	KDR	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	2657	GDF1	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	140628	GATA5	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	2324	FLT4	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	10370	CITED2	ORPHA:3303
HP:0000924	Abnormality of the skeletal system	2334	AFF2	ORPHA:100973
HP:0000924	Abnormality of the skeletal system	10847	SRCAP	OMIM:136140
HP:0000924	Abnormality of the skeletal system	54808	DYM	OMIM:223800
HP:0000924	Abnormality of the skeletal system	84679	SLC9A7	OMIM:301024
HP:0000924	Abnormality of the skeletal system	10735	STAG2	OMIM:301022
HP:0000924	Abnormality of the skeletal system	5925	RB1	ORPHA:1587
HP:0000924	Abnormality of the skeletal system	7874	USP7	OMIM:616863
HP:0000924	Abnormality of the skeletal system	3759	KCNJ2	OMIM:170390
HP:0000924	Abnormality of the skeletal system	81620	CDT1	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	5000	ORC4	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	23594	ORC6	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	990	CDC6	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	51053	GMNN	ORPHA:2554
HP:0000924	Abnormality of the skeletal system	25	ABL1	OMIM:617602
HP:0000924	Abnormality of the skeletal system	29980	DONSON	OMIM:617604
HP:0000924	Abnormality of the skeletal system	6638	SNRPN	ORPHA:177907
HP:0000924	Abnormality of the skeletal system	23476	BRD4	ORPHA:199
HP:0000924	Abnormality of the skeletal system	10664	CTCF	ORPHA:363611
HP:0000924	Abnormality of the skeletal system	22931	RAB18	OMIM:614222
HP:0000924	Abnormality of the skeletal system	490	ATP2B1	OMIM:619910
HP:0000924	Abnormality of the skeletal system	284252	KCTD1	OMIM:181270
HP:0000924	Abnormality of the skeletal system	54870	QRICH1	OMIM:617982
HP:0000924	Abnormality of the skeletal system	139285	AMER1	OMIM:300373
HP:0000924	Abnormality of the skeletal system	4841	NONO	ORPHA:466791
HP:0000924	Abnormality of the skeletal system	1663	DDX11	OMIM:613398
HP:0000924	Abnormality of the skeletal system	2186	BPTF	OMIM:617755
HP:0000924	Abnormality of the skeletal system	59341	TRPV4	ORPHA:2635
HP:0000924	Abnormality of the skeletal system	10225	CD96	ORPHA:1308
HP:0000924	Abnormality of the skeletal system	4848	CNOT2	OMIM:618608
HP:0000924	Abnormality of the skeletal system	64131	XYLT1	ORPHA:1425
HP:0000924	Abnormality of the skeletal system	124583	CANT1	ORPHA:1425
HP:0000924	Abnormality of the skeletal system	55790	CSGALNACT1	ORPHA:1425
HP:0000924	Abnormality of the skeletal system	4204	MECP2	OMIM:300260
HP:0000924	Abnormality of the skeletal system	55553	SOX6	OMIM:618971
HP:0000924	Abnormality of the skeletal system	84148	KAT8	OMIM:618974
HP:0000924	Abnormality of the skeletal system	58499	ZNF462	OMIM:618619
HP:0000924	Abnormality of the skeletal system	6598	SMARCB1	OMIM:614608
HP:0000924	Abnormality of the skeletal system	84068	SLC10A7	OMIM:618363
HP:0000924	Abnormality of the skeletal system	29072	SETD2	OMIM:616831
HP:0000924	Abnormality of the skeletal system	54187	NANS	OMIM:610442
HP:0000924	Abnormality of the skeletal system	9451	EIF2AK3	OMIM:226980
HP:0000924	Abnormality of the skeletal system	10568	SLC34A2	ORPHA:60025
HP:0000924	Abnormality of the skeletal system	8838	CCN6	ORPHA:1159
HP:0000924	Abnormality of the skeletal system	4148	MATN3	ORPHA:93311
HP:0000924	Abnormality of the skeletal system	3480	IGF1R	ORPHA:73273
HP:0000924	Abnormality of the skeletal system	4921	DDR2	OMIM:271665
HP:0000924	Abnormality of the skeletal system	124997	WDR81	OMIM:610185
HP:0000924	Abnormality of the skeletal system	79639	TMEM53	OMIM:619727
HP:0000924	Abnormality of the skeletal system	25782	RAB3GAP2	OMIM:212720
HP:0000924	Abnormality of the skeletal system	1778	DYNC1H1	OMIM:614563
HP:0000924	Abnormality of the skeletal system	80311	KLHL15	OMIM:300982
HP:0000924	Abnormality of the skeletal system	55012	PPP2R3C	OMIM:618419
HP:0000924	Abnormality of the skeletal system	6905	TBCE	OMIM:241410
HP:0000924	Abnormality of the skeletal system	6905	TBCE	OMIM:244460
HP:0000924	Abnormality of the skeletal system	10013	HDAC6	ORPHA:163966
HP:0000924	Abnormality of the skeletal system	9719	ADAMTSL2	OMIM:231050
HP:0000924	Abnormality of the skeletal system	79718	TBL1XR1	OMIM:602342
HP:0000924	Abnormality of the skeletal system	1298	COL9A2	OMIM:600204
HP:0000924	Abnormality of the skeletal system	28957	MRPS28	OMIM:618958
HP:0000924	Abnormality of the skeletal system	23261	CAMTA1	OMIM:614756
HP:0000924	Abnormality of the skeletal system	25839	COG4	ORPHA:85172
HP:0000924	Abnormality of the skeletal system	8813	DPM1	OMIM:608799
HP:0000924	Abnormality of the skeletal system	147372	CCBE1	OMIM:235510
HP:0000924	Abnormality of the skeletal system	579	NKX3-2	OMIM:613330
HP:0000924	Abnormality of the skeletal system	5934	RBL2	OMIM:619690
HP:0000924	Abnormality of the skeletal system	1436	CSF1R	OMIM:618476
HP:0000924	Abnormality of the skeletal system	28962	OSTM1	ORPHA:85179
HP:0000924	Abnormality of the skeletal system	10484	SEC23A	ORPHA:50814
HP:0000924	Abnormality of the skeletal system	79796	ALG9	OMIM:263210
HP:0000924	Abnormality of the skeletal system	4352	MPL	ORPHA:3319
HP:0000924	Abnormality of the skeletal system	7066	THPO	ORPHA:3319
HP:0000924	Abnormality of the skeletal system	84168	ANTXR1	ORPHA:2067
HP:0000924	Abnormality of the skeletal system	60386	SLC25A19	ORPHA:99742
HP:0000924	Abnormality of the skeletal system	168667	BMPER	OMIM:608022
HP:0000924	Abnormality of the skeletal system	26146	TRAF3IP1	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	9657	IQCB1	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	27130	INVS	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	261734	NPHP4	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	27031	NPHP3	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	22897	CEP164	ORPHA:3156
HP:0000924	Abnormality of the skeletal system	79879	CCDC134	OMIM:619795
HP:0000924	Abnormality of the skeletal system	55325	UFSP2	OMIM:617974
HP:0000924	Abnormality of the skeletal system	7305	TYROBP	ORPHA:2770
HP:0000924	Abnormality of the skeletal system	54209	TREM2	ORPHA:2770
HP:0000924	Abnormality of the skeletal system	10056	FARSB	OMIM:613658
HP:0000924	Abnormality of the skeletal system	29887	SNX10	ORPHA:667
HP:0000924	Abnormality of the skeletal system	1528	CYB5A	ORPHA:90796
HP:0000924	Abnormality of the skeletal system	1586	CYP17A1	ORPHA:90796
HP:0000924	Abnormality of the skeletal system	7486	WRN	OMIM:277700
HP:0000924	Abnormality of the skeletal system	4773	NFATC2	OMIM:620232
HP:0000924	Abnormality of the skeletal system	2592	GALT	ORPHA:79239
HP:0000924	Abnormality of the skeletal system	1027	CDKN1B	ORPHA:652
HP:0000924	Abnormality of the skeletal system	1026	CDKN1A	ORPHA:652
HP:0000924	Abnormality of the skeletal system	1030	CDKN2B	ORPHA:652
HP:0000924	Abnormality of the skeletal system	1031	CDKN2C	ORPHA:652
HP:0000924	Abnormality of the skeletal system	4693	NDP	ORPHA:891
HP:0000924	Abnormality of the skeletal system	23554	TSPAN12	ORPHA:891
HP:0000924	Abnormality of the skeletal system	79797	ZNF408	ORPHA:891
HP:0000924	Abnormality of the skeletal system	8322	FZD4	ORPHA:891
HP:0000924	Abnormality of the skeletal system	55898	UNC45A	OMIM:619377
HP:0000924	Abnormality of the skeletal system	6569	SLC34A1	ORPHA:157215
HP:0000924	Abnormality of the skeletal system	1583	CYP11A1	ORPHA:168558
HP:0000924	Abnormality of the skeletal system	1583	CYP11A1	ORPHA:289548
HP:0000924	Abnormality of the skeletal system	6678	SPARC	OMIM:616507
HP:0000924	Abnormality of the skeletal system	51608	GET4	OMIM:620200
HP:0000924	Abnormality of the skeletal system	2717	GLA	ORPHA:324
HP:0000924	Abnormality of the skeletal system	8883	NAE1	OMIM:620210
HP:0000924	Abnormality of the skeletal system	10371	SEMA3A	ORPHA:478
HP:0000924	Abnormality of the skeletal system	81848	SPRY4	ORPHA:478
HP:0000924	Abnormality of the skeletal system	23767	FLRT3	ORPHA:478
HP:0000924	Abnormality of the skeletal system	128674	PROKR2	ORPHA:478
HP:0000924	Abnormality of the skeletal system	79625	NDNF	ORPHA:478
HP:0000924	Abnormality of the skeletal system	2253	FGF8	ORPHA:478
HP:0000924	Abnormality of the skeletal system	389549	FEZF1	ORPHA:478
HP:0000924	Abnormality of the skeletal system	1630	DCC	ORPHA:478
HP:0000924	Abnormality of the skeletal system	3730	ANOS1	ORPHA:478
HP:0000924	Abnormality of the skeletal system	54756	IL17RD	ORPHA:478
HP:0000924	Abnormality of the skeletal system	6663	SOX10	ORPHA:478
HP:0000924	Abnormality of the skeletal system	285025	CCDC141	ORPHA:478
HP:0000924	Abnormality of the skeletal system	60675	PROK2	ORPHA:478
HP:0000924	Abnormality of the skeletal system	1848	DUSP6	ORPHA:478
HP:0000924	Abnormality of the skeletal system	6870	TACR3	ORPHA:478
HP:0000924	Abnormality of the skeletal system	9394	HS6ST1	ORPHA:478
HP:0000924	Abnormality of the skeletal system	8822	FGF17	ORPHA:478
HP:0000924	Abnormality of the skeletal system	23586	RIGI	OMIM:616298
HP:0000924	Abnormality of the skeletal system	4091	SMAD6	ORPHA:402075
HP:0000924	Abnormality of the skeletal system	3192	HNRNPU	ORPHA:238769
HP:0000924	Abnormality of the skeletal system	85378	TUBGCP6	ORPHA:2518
HP:0000924	Abnormality of the skeletal system	27229	TUBGCP4	ORPHA:2518
HP:0000924	Abnormality of the skeletal system	57192	MCOLN1	ORPHA:578
HP:0000924	Abnormality of the skeletal system	57187	THOC2	ORPHA:457240
HP:0000924	Abnormality of the skeletal system	169792	GLIS3	OMIM:610199
HP:0000924	Abnormality of the skeletal system	4724	NDUFS4	OMIM:252010
HP:0000924	Abnormality of the skeletal system	2670	GFAP	OMIM:203450
HP:0000924	Abnormality of the skeletal system	2670	GFAP	ORPHA:363717
HP:0000924	Abnormality of the skeletal system	1718	DHCR24	OMIM:602398
HP:0000924	Abnormality of the skeletal system	2271	FH	OMIM:606812
HP:0000924	Abnormality of the skeletal system	5426	POLE	OMIM:615139
HP:0000924	Abnormality of the skeletal system	5426	POLE	OMIM:618336
HP:0000924	Abnormality of the skeletal system	55331	ACER3	OMIM:617762
HP:0000924	Abnormality of the skeletal system	1967	EIF2B1	OMIM:603896
HP:0000924	Abnormality of the skeletal system	57194	ATP10A	ORPHA:411515
HP:0000924	Abnormality of the skeletal system	4618	MYF6	ORPHA:169189
HP:0000924	Abnormality of the skeletal system	84701	COX4I2	OMIM:612714
HP:0000924	Abnormality of the skeletal system	7849	PAX8	OMIM:218700
HP:0000924	Abnormality of the skeletal system	405753	DUOXA2	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	6528	SLC5A5	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	7038	TG	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	7173	TPO	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	389434	IYD	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	50506	DUOX2	ORPHA:95716
HP:0000924	Abnormality of the skeletal system	55670	PEX26	OMIM:614872
HP:0000924	Abnormality of the skeletal system	183	AGT	OMIM:267430
HP:0000924	Abnormality of the skeletal system	5972	REN	OMIM:267430
HP:0000924	Abnormality of the skeletal system	185	AGTR1	OMIM:267430
HP:0000924	Abnormality of the skeletal system	1636	ACE	OMIM:267430
HP:0000924	Abnormality of the skeletal system	7507	XPA	ORPHA:910
HP:0000924	Abnormality of the skeletal system	7508	XPC	ORPHA:910
HP:0000924	Abnormality of the skeletal system	1643	DDB2	ORPHA:910
HP:0000924	Abnormality of the skeletal system	5898	RALA	OMIM:619311
HP:0000924	Abnormality of the skeletal system	4683	NBN	OMIM:251260
HP:0000924	Abnormality of the skeletal system	10087	CERT1	OMIM:616351
HP:0000924	Abnormality of the skeletal system	10907	TXNL4A	OMIM:608572
HP:0000924	Abnormality of the skeletal system	57570	TRMT5	OMIM:616539
HP:0000924	Abnormality of the skeletal system	745	MYRF	OMIM:618280
HP:0000924	Abnormality of the skeletal system	26281	FGF20	ORPHA:1848
HP:0000924	Abnormality of the skeletal system	2674	GFRA1	ORPHA:1848
HP:0000924	Abnormality of the skeletal system	7484	WNT9B	ORPHA:1848
HP:0000924	Abnormality of the skeletal system	80000	GREB1L	ORPHA:1848
HP:0000924	Abnormality of the skeletal system	10342	TFG	ORPHA:431329
HP:0000924	Abnormality of the skeletal system	5582	PRKCG	ORPHA:98763
HP:0000924	Abnormality of the skeletal system	23204	ARL6IP1	ORPHA:401780
HP:0000924	Abnormality of the skeletal system	11330	CTRC	ORPHA:103918
HP:0000924	Abnormality of the skeletal system	11330	CTRC	ORPHA:676
HP:0000924	Abnormality of the skeletal system	11330	CTRC	OMIM:167800
HP:0000924	Abnormality of the skeletal system	6690	SPINK1	ORPHA:103918
HP:0000924	Abnormality of the skeletal system	6690	SPINK1	ORPHA:676
HP:0000924	Abnormality of the skeletal system	6690	SPINK1	OMIM:608189
HP:0000924	Abnormality of the skeletal system	6690	SPINK1	OMIM:167800
HP:0000924	Abnormality of the skeletal system	5644	PRSS1	ORPHA:676
HP:0000924	Abnormality of the skeletal system	5644	PRSS1	OMIM:167800
HP:0000924	Abnormality of the skeletal system	5645	PRSS2	ORPHA:676
HP:0000924	Abnormality of the skeletal system	5645	PRSS2	OMIM:167800
HP:0000924	Abnormality of the skeletal system	1357	CPA1	ORPHA:676
HP:0000924	Abnormality of the skeletal system	2165	F13B	ORPHA:331
HP:0000924	Abnormality of the skeletal system	2162	F13A1	ORPHA:331
HP:0000924	Abnormality of the skeletal system	2162	F13A1	OMIM:613225
HP:0000924	Abnormality of the skeletal system	2159	F10	OMIM:227600
HP:0000924	Abnormality of the skeletal system	2159	F10	ORPHA:328
HP:0000924	Abnormality of the skeletal system	7450	VWF	OMIM:193400
HP:0000924	Abnormality of the skeletal system	7450	VWF	OMIM:277480
HP:0000924	Abnormality of the skeletal system	2155	F7	OMIM:227500
HP:0000924	Abnormality of the skeletal system	2155	F7	ORPHA:327
HP:0000924	Abnormality of the skeletal system	2147	F2	OMIM:613679
HP:0000924	Abnormality of the skeletal system	2147	F2	ORPHA:325
HP:0000924	Abnormality of the skeletal system	2160	F11	ORPHA:329
HP:0000924	Abnormality of the skeletal system	2153	F5	ORPHA:326
HP:0000924	Abnormality of the skeletal system	5054	SERPINE1	ORPHA:465
HP:0000924	Abnormality of the skeletal system	3998	LMAN1	ORPHA:35909
HP:0000924	Abnormality of the skeletal system	90411	MCFD2	ORPHA:35909
HP:0000924	Abnormality of the skeletal system	5328	PLAU	OMIM:601709
HP:0000924	Abnormality of the skeletal system	7280	TUBB2A	OMIM:615763
HP:0000924	Abnormality of the skeletal system	124512	METTL23	OMIM:615942
HP:0000924	Abnormality of the skeletal system	83700	JAM3	OMIM:613730
HP:0000924	Abnormality of the skeletal system	53616	ADAM22	OMIM:617933
HP:0000924	Abnormality of the skeletal system	6571	SLC18A2	ORPHA:352649
HP:0000924	Abnormality of the skeletal system	55610	VPS50	OMIM:619685
HP:0000924	Abnormality of the skeletal system	271	AMPD2	OMIM:615809
HP:0000924	Abnormality of the skeletal system	22796	COG2	OMIM:617395
HP:0000924	Abnormality of the skeletal system	22796	COG2	ORPHA:435934
HP:0000924	Abnormality of the skeletal system	9512	PMPCB	OMIM:617954
HP:0000924	Abnormality of the skeletal system	54675	CRLS1	OMIM:620167
HP:0000924	Abnormality of the skeletal system	22884	WDR37	OMIM:618652
HP:0000924	Abnormality of the skeletal system	57468	SLC12A5	OMIM:616645
HP:0000924	Abnormality of the skeletal system	56947	MFF	ORPHA:485421
HP:0000924	Abnormality of the skeletal system	56947	MFF	OMIM:617086
HP:0000924	Abnormality of the skeletal system	539	ATP5PO	OMIM:620359
HP:0000924	Abnormality of the skeletal system	9440	MED17	OMIM:613668
HP:0000924	Abnormality of the skeletal system	125988	MICOS13	OMIM:618329
HP:0000924	Abnormality of the skeletal system	1719	DHFR	OMIM:613839
HP:0000924	Abnormality of the skeletal system	51693	TRAPPC2L	OMIM:618331
HP:0000924	Abnormality of the skeletal system	57017	COQ9	OMIM:614654
HP:0000924	Abnormality of the skeletal system	27429	HTRA2	OMIM:617248
HP:0000924	Abnormality of the skeletal system	79776	ZFHX4	ORPHA:91411
HP:0000924	Abnormality of the skeletal system	65055	REEP1	OMIM:620011
HP:0000924	Abnormality of the skeletal system	7840	ALMS1	ORPHA:64
HP:0000924	Abnormality of the skeletal system	7840	ALMS1	OMIM:203800
HP:0000924	Abnormality of the skeletal system	4158	MC2R	OMIM:202200
HP:0000924	Abnormality of the skeletal system	3290	HSD11B1	OMIM:614662
HP:0000924	Abnormality of the skeletal system	84282	RNF135	ORPHA:137634
HP:0000924	Abnormality of the skeletal system	3643	INSR	ORPHA:2297
HP:0000924	Abnormality of the skeletal system	3008	H1-4	OMIM:617537
HP:0000924	Abnormality of the skeletal system	1650	DDOST	OMIM:614507
HP:0000924	Abnormality of the skeletal system	1650	DDOST	ORPHA:300536
HP:0000924	Abnormality of the skeletal system	7253	TSHR	ORPHA:424
HP:0000924	Abnormality of the skeletal system	7253	TSHR	OMIM:609152
HP:0000924	Abnormality of the skeletal system	1584	CYP11B1	OMIM:202010
HP:0000924	Abnormality of the skeletal system	1584	CYP11B1	ORPHA:90795
HP:0000924	Abnormality of the skeletal system	200424	TET3	OMIM:618798
HP:0000924	Abnormality of the skeletal system	3952	LEP	ORPHA:66628
HP:0000924	Abnormality of the skeletal system	4221	MEN1	ORPHA:99725
HP:0000924	Abnormality of the skeletal system	1588	CYP19A1	OMIM:139300
HP:0000924	Abnormality of the skeletal system	10984	KCNQ1OT1	OMIM:130650
HP:0000924	Abnormality of the skeletal system	3784	KCNQ1	OMIM:130650
HP:0000924	Abnormality of the skeletal system	3973	LHCGR	ORPHA:3000
HP:0000924	Abnormality of the skeletal system	5468	PPARG	ORPHA:528
HP:0000924	Abnormality of the skeletal system	10555	AGPAT2	ORPHA:528
HP:0000924	Abnormality of the skeletal system	10555	AGPAT2	OMIM:608594
HP:0000924	Abnormality of the skeletal system	284119	CAVIN1	ORPHA:528
HP:0000924	Abnormality of the skeletal system	284119	CAVIN1	OMIM:613327
HP:0000924	Abnormality of the skeletal system	2353	FOS	ORPHA:528
HP:0000924	Abnormality of the skeletal system	372	ARCN1	OMIM:617164
HP:0000924	Abnormality of the skeletal system	3953	LEPR	ORPHA:179494
HP:0000924	Abnormality of the skeletal system	55628	ZNF407	OMIM:619557
HP:0000924	Abnormality of the skeletal system	84265	POLR3GL	OMIM:619234
HP:0000924	Abnormality of the skeletal system	2990	GUSB	OMIM:253220
HP:0000924	Abnormality of the skeletal system	3170	FOXA2	ORPHA:95494
HP:0000924	Abnormality of the skeletal system	6658	SOX3	ORPHA:90695
HP:0000924	Abnormality of the skeletal system	4222	MEOX1	ORPHA:2345
HP:0000924	Abnormality of the skeletal system	80199	FUZ	ORPHA:3027
HP:0000924	Abnormality of the skeletal system	1327	COX4I1	OMIM:619060
HP:0000924	Abnormality of the skeletal system	3081	HGD	ORPHA:56
HP:0000924	Abnormality of the skeletal system	4907	NT5E	OMIM:211800
HP:0000924	Abnormality of the skeletal system	1297	COL9A1	OMIM:614135
HP:0000924	Abnormality of the skeletal system	1147	CHUK	OMIM:619339
HP:0000924	Abnormality of the skeletal system	6522	SLC4A2	OMIM:620366
HP:0000924	Abnormality of the skeletal system	83932	SPRTN	OMIM:616200
HP:0000924	Abnormality of the skeletal system	83737	ITCH	OMIM:613385
HP:0000924	Abnormality of the skeletal system	1674	DES	ORPHA:98909
HP:0000924	Abnormality of the skeletal system	6329	SCN4A	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	1134	CHRNA1	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	1305	COL13A1	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	1140	CHRNB1	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	1144	CHRND	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	1145	CHRNE	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	4593	MUSK	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	5913	RAPSN	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	375790	AGRN	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	221264	AK9	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	285489	DOK7	ORPHA:98913
HP:0000924	Abnormality of the skeletal system	3594	IL12RB1	ORPHA:319552
HP:0000924	Abnormality of the skeletal system	64802	NMNAT1	OMIM:619260
HP:0000924	Abnormality of the skeletal system	1893	ECM1	OMIM:247100
HP:0000924	Abnormality of the skeletal system	3798	KIF5A	ORPHA:100991
HP:0000924	Abnormality of the skeletal system	64421	DCLRE1C	ORPHA:275
HP:0000924	Abnormality of the skeletal system	144811	LACC1	ORPHA:85414
HP:0000924	Abnormality of the skeletal system	4282	MIF	ORPHA:85414
HP:0000924	Abnormality of the skeletal system	3569	IL6	ORPHA:85414
HP:0000924	Abnormality of the skeletal system	4626	MYH8	OMIM:158300
HP:0000924	Abnormality of the skeletal system	4626	MYH8	OMIM:608837
HP:0000924	Abnormality of the skeletal system	342035	GLDN	OMIM:617194
HP:0000924	Abnormality of the skeletal system	34	ACADM	ORPHA:42
HP:0000924	Abnormality of the skeletal system	112	ADCY6	OMIM:616287
HP:0000924	Abnormality of the skeletal system	8506	CNTNAP1	OMIM:616286
HP:0000924	Abnormality of the skeletal system	4897	NRCAM	OMIM:619833
HP:0000924	Abnormality of the skeletal system	9289	ADGRG1	ORPHA:98889
HP:0000924	Abnormality of the skeletal system	5297	PI4KA	ORPHA:98889
HP:0000924	Abnormality of the skeletal system	27286	SRPX2	ORPHA:98889
HP:0000924	Abnormality of the skeletal system	4649	MYO9A	OMIM:618198
HP:0000924	Abnormality of the skeletal system	163175	LGI4	OMIM:617468
HP:0000924	Abnormality of the skeletal system	7148	TNXB	ORPHA:230839
HP:0000924	Abnormality of the skeletal system	23118	TAB2	ORPHA:228410
HP:0000924	Abnormality of the skeletal system	6535	SLC6A8	ORPHA:52503
HP:0000924	Abnormality of the skeletal system	5076	PAX2	ORPHA:1475
HP:0000924	Abnormality of the skeletal system	137492	VPS37A	ORPHA:319199
HP:0000924	Abnormality of the skeletal system	137492	VPS37A	OMIM:614898
HP:0000924	Abnormality of the skeletal system	716	C1S	ORPHA:75392
HP:0000924	Abnormality of the skeletal system	6774	STAT3	ORPHA:2314
HP:0000924	Abnormality of the skeletal system	9509	ADAMTS2	ORPHA:1901
HP:0000924	Abnormality of the skeletal system	4854	NOTCH3	ORPHA:2789
HP:0000924	Abnormality of the skeletal system	80781	COL18A1	ORPHA:1571
HP:0000924	Abnormality of the skeletal system	5062	PAK2	ORPHA:1571
HP:0000924	Abnormality of the skeletal system	5831	PYCR1	ORPHA:2078
HP:0000924	Abnormality of the skeletal system	84695	LOXL3	ORPHA:250984
HP:0000924	Abnormality of the skeletal system	5167	ENPP1	ORPHA:758
HP:0000924	Abnormality of the skeletal system	368	ABCC6	ORPHA:758
HP:0000924	Abnormality of the skeletal system	81607	NECTIN4	OMIM:613573
HP:0000924	Abnormality of the skeletal system	10079	ATP9A	OMIM:620242
HP:0000924	Abnormality of the skeletal system	9652	SKIC3	OMIM:222470
HP:0000924	Abnormality of the skeletal system	2521	FUS	ORPHA:300605
HP:0000924	Abnormality of the skeletal system	10280	SIGMAR1	ORPHA:300605
HP:0000924	Abnormality of the skeletal system	10558	SPTLC1	ORPHA:300605
HP:0000924	Abnormality of the skeletal system	80232	WDR26	ORPHA:513456
HP:0000924	Abnormality of the skeletal system	3767	KCNJ11	ORPHA:99885
HP:0000924	Abnormality of the skeletal system	2645	GCK	ORPHA:99885
HP:0000924	Abnormality of the skeletal system	3651	PDX1	ORPHA:99885
HP:0000924	Abnormality of the skeletal system	6833	ABCC8	ORPHA:99885
HP:0000924	Abnormality of the skeletal system	3630	INS	ORPHA:99885
HP:0000924	Abnormality of the skeletal system	7128	TNFAIP3	OMIM:616744
HP:0000924	Abnormality of the skeletal system	7132	TNFRSF1A	OMIM:142680
HP:0000924	Abnormality of the skeletal system	26525	IL36RN	OMIM:614204
HP:0000924	Abnormality of the skeletal system	6583	SLC22A4	OMIM:180300
HP:0000924	Abnormality of the skeletal system	4261	CIITA	OMIM:180300
HP:0000924	Abnormality of the skeletal system	51744	CD244	OMIM:180300
HP:0000924	Abnormality of the skeletal system	4795	NFKBIL1	OMIM:180300
HP:0000924	Abnormality of the skeletal system	246329	STAC3	OMIM:255995
HP:0000924	Abnormality of the skeletal system	8818	DPM2	ORPHA:329178
HP:0000924	Abnormality of the skeletal system	8540	AGPS	OMIM:600121
HP:0000924	Abnormality of the skeletal system	51305	KCNK9	ORPHA:166108
HP:0000924	Abnormality of the skeletal system	9365	KL	OMIM:617994
HP:0000924	Abnormality of the skeletal system	54681	P4HTM	OMIM:618493
HP:0000924	Abnormality of the skeletal system	22861	NLRP1	OMIM:615225
HP:0000924	Abnormality of the skeletal system	10586	MAB21L2	OMIM:615877
HP:0000924	Abnormality of the skeletal system	341640	FREM2	ORPHA:2052
HP:0000924	Abnormality of the skeletal system	80144	FRAS1	ORPHA:2052
HP:0000924	Abnormality of the skeletal system	23426	GRIP1	ORPHA:2052
HP:0000924	Abnormality of the skeletal system	9790	BMS1	ORPHA:1114
HP:0000924	Abnormality of the skeletal system	3691	ITGB4	ORPHA:1114
HP:0000924	Abnormality of the skeletal system	1500	CTNND1	ORPHA:1997
HP:0000924	Abnormality of the skeletal system	999	CDH1	ORPHA:1997
HP:0000924	Abnormality of the skeletal system	134701	RIPPLY2	ORPHA:2311
HP:0000924	Abnormality of the skeletal system	10683	DLL3	ORPHA:2311
HP:0000924	Abnormality of the skeletal system	84667	HES7	ORPHA:2311
HP:0000924	Abnormality of the skeletal system	145873	MESP2	ORPHA:2311
HP:0000924	Abnormality of the skeletal system	1501	CTNND2	ORPHA:281
HP:0000924	Abnormality of the skeletal system	9037	SEMA5A	ORPHA:281
HP:0000924	Abnormality of the skeletal system	9508	ADAMTS3	ORPHA:2136
HP:0000924	Abnormality of the skeletal system	2767	GNA11	ORPHA:1556
HP:0000924	Abnormality of the skeletal system	151188	ARL6IP6	ORPHA:1556
HP:0000924	Abnormality of the skeletal system	29968	PSAT1	OMIM:616038
HP:0000924	Abnormality of the skeletal system	93210	PGAP3	ORPHA:247262
HP:0000924	Abnormality of the skeletal system	93210	PGAP3	OMIM:615716
HP:0000924	Abnormality of the skeletal system	284098	PIGW	ORPHA:247262
HP:0000924	Abnormality of the skeletal system	27315	PGAP2	ORPHA:247262
HP:0000924	Abnormality of the skeletal system	27315	PGAP2	OMIM:614207
HP:0000924	Abnormality of the skeletal system	2318	FLNC	ORPHA:63273
HP:0000924	Abnormality of the skeletal system	26278	SACS	OMIM:270550
HP:0000924	Abnormality of the skeletal system	9987	HNRNPDL	OMIM:609115
HP:0000924	Abnormality of the skeletal system	64094	SMOC2	OMIM:125400
HP:0000924	Abnormality of the skeletal system	3655	ITGA6	ORPHA:79403
HP:0000924	Abnormality of the skeletal system	80055	PGAP1	OMIM:615802
HP:0000924	Abnormality of the skeletal system	57217	TTC7A	OMIM:243150
HP:0000924	Abnormality of the skeletal system	79977	GRHL2	OMIM:616029
HP:0000924	Abnormality of the skeletal system	2591	GALNT3	OMIM:211900
HP:0000924	Abnormality of the skeletal system	4487	MSX1	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	128178	EDARADD	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	5083	PAX9	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	7341	SUMO1	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	80326	WNT10A	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	8313	AXIN2	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	7039	TGFA	ORPHA:99798
HP:0000924	Abnormality of the skeletal system	23321	TRIM2	OMIM:615490
HP:0000924	Abnormality of the skeletal system	10613	ERLIN1	ORPHA:401785
HP:0000924	Abnormality of the skeletal system	2184	FAH	ORPHA:882
HP:0000924	Abnormality of the skeletal system	55958	KLHL9	ORPHA:399081
HP:0000924	Abnormality of the skeletal system	83636	C19orf12	OMIM:615043
HP:0000924	Abnormality of the skeletal system	210	ALAD	ORPHA:100924
HP:0000924	Abnormality of the skeletal system	513	ATP5F1D	OMIM:618120
HP:0000924	Abnormality of the skeletal system	497661	C18orf32	OMIM:619985
HP:0000924	Abnormality of the skeletal system	7407	VARS1	OMIM:617802
HP:0000924	Abnormality of the skeletal system	10861	SLC26A1	OMIM:620372
HP:0000924	Abnormality of the skeletal system	8148	TAF15	OMIM:612237
HP:0000924	Abnormality of the skeletal system	8013	NR4A3	OMIM:612237
HP:0000924	Abnormality of the skeletal system	29954	POMT2	OMIM:236670
HP:0000924	Abnormality of the skeletal system	9215	LARGE1	OMIM:236670
HP:0000924	Abnormality of the skeletal system	79147	FKRP	OMIM:236670
HP:0000924	Abnormality of the skeletal system	10585	POMT1	OMIM:236670
HP:0000924	Abnormality of the skeletal system	2218	FKTN	OMIM:236670
HP:0000924	Abnormality of the skeletal system	64135	IFIH1	OMIM:615846
HP:0000924	Abnormality of the skeletal system	25939	SAMHD1	OMIM:612952
HP:0000924	Abnormality of the skeletal system	11277	TREX1	OMIM:225750
HP:0000924	Abnormality of the skeletal system	2073	ERCC5	OMIM:616570
HP:0000924	Abnormality of the skeletal system	30813	VSX1	OMIM:614195
HP:0000924	Abnormality of the skeletal system	23007	PLCH1	OMIM:619895
HP:0000924	Abnormality of the skeletal system	18	ABAT	OMIM:613163
HP:0000924	Abnormality of the skeletal system	1801	DPH1	ORPHA:459061
HP:0000924	Abnormality of the skeletal system	81839	VANGL1	OMIM:600145
HP:0000924	Abnormality of the skeletal system	3110	MNX1	OMIM:176450
HP:0000924	Abnormality of the skeletal system	58494	JAM2	OMIM:618824
HP:0000924	Abnormality of the skeletal system	5702	PSMC3	OMIM:619354
HP:0000924	Abnormality of the skeletal system	3032	HADHB	ORPHA:746
HP:0000924	Abnormality of the skeletal system	3030	HADHA	ORPHA:746
HP:0000924	Abnormality of the skeletal system	23259	DDHD2	ORPHA:320380
HP:0000924	Abnormality of the skeletal system	57477	SHROOM4	ORPHA:85288
HP:0000924	Abnormality of the skeletal system	8218	CLTCL1	ORPHA:453510
HP:0000924	Abnormality of the skeletal system	8291	DYSF	ORPHA:268
HP:0000924	Abnormality of the skeletal system	123606	NIPA1	ORPHA:100988
HP:0000924	Abnormality of the skeletal system	10717	AP4B1	ORPHA:280763
HP:0000924	Abnormality of the skeletal system	10717	AP4B1	OMIM:614066
HP:0000924	Abnormality of the skeletal system	11154	AP4S1	ORPHA:280763
HP:0000924	Abnormality of the skeletal system	23431	AP4E1	ORPHA:280763
HP:0000924	Abnormality of the skeletal system	29928	TIMM22	OMIM:618851
HP:0000924	Abnormality of the skeletal system	25885	POLR1A	OMIM:616462
HP:0000924	Abnormality of the skeletal system	23443	SLC35A3	OMIM:615553
HP:0000924	Abnormality of the skeletal system	84700	MYO18B	OMIM:616549
HP:0000924	Abnormality of the skeletal system	8546	AP3B1	OMIM:608233
HP:0000924	Abnormality of the skeletal system	2487	FRZB	OMIM:165720
HP:0000924	Abnormality of the skeletal system	10765	KDM5B	OMIM:618109
HP:0000924	Abnormality of the skeletal system	10093	ARPC4	OMIM:620141
HP:0000924	Abnormality of the skeletal system	8575	PRKRA	OMIM:612067
HP:0000924	Abnormality of the skeletal system	26229	B3GAT3	OMIM:245600
HP:0000924	Abnormality of the skeletal system	2335	FN1	ORPHA:93315
HP:0000924	Abnormality of the skeletal system	51412	ACTL6B	OMIM:618470
HP:0000924	Abnormality of the skeletal system	55784	MCTP2	ORPHA:1596
HP:0000924	Abnormality of the skeletal system	10651	MTX2	ORPHA:90153
HP:0000924	Abnormality of the skeletal system	24140	FTSJ1	OMIM:309549
HP:0000924	Abnormality of the skeletal system	2475	MTOR	OMIM:616638
HP:0000924	Abnormality of the skeletal system	54	ACP5	ORPHA:1855
HP:0000924	Abnormality of the skeletal system	1300	COL10A1	OMIM:156500
HP:0000924	Abnormality of the skeletal system	5281	PIGF	OMIM:619356
HP:0000924	Abnormality of the skeletal system	2677	GGCX	OMIM:277450
HP:0000924	Abnormality of the skeletal system	415	ARSL	ORPHA:79345
HP:0000924	Abnormality of the skeletal system	415	ARSL	OMIM:302950
HP:0000924	Abnormality of the skeletal system	26137	ZBTB20	OMIM:259050
HP:0000924	Abnormality of the skeletal system	60401	EDA2R	ORPHA:181
HP:0000924	Abnormality of the skeletal system	1896	EDA	ORPHA:181
HP:0000924	Abnormality of the skeletal system	4256	MGP	ORPHA:85202
HP:0000924	Abnormality of the skeletal system	4256	MGP	OMIM:245150
HP:0000924	Abnormality of the skeletal system	6664	SOX11	OMIM:615866
HP:0000924	Abnormality of the skeletal system	865	CBFB	OMIM:620099
HP:0000924	Abnormality of the skeletal system	6711	SPTBN1	OMIM:619475
HP:0000924	Abnormality of the skeletal system	1906	EDN1	ORPHA:137888
HP:0000924	Abnormality of the skeletal system	2773	GNAI3	ORPHA:137888
HP:0000924	Abnormality of the skeletal system	63932	STEEP1	OMIM:301013
HP:0000924	Abnormality of the skeletal system	9653	HS2ST1	OMIM:619194
HP:0000924	Abnormality of the skeletal system	9573	GDF3	OMIM:613703
HP:0000924	Abnormality of the skeletal system	5396	PRRX1	OMIM:202650
HP:0000924	Abnormality of the skeletal system	5396	PRRX1	ORPHA:990
HP:0000924	Abnormality of the skeletal system	5015	OTX2	ORPHA:990
HP:0000924	Abnormality of the skeletal system	54539	NDUFB11	ORPHA:2556
HP:0000924	Abnormality of the skeletal system	1349	COX7B	ORPHA:2556
HP:0000924	Abnormality of the skeletal system	3052	HCCS	ORPHA:2556
HP:0000924	Abnormality of the skeletal system	71	ACTG1	ORPHA:2995
HP:0000924	Abnormality of the skeletal system	6135	RPL11	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6138	RPL15	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6229	RPS24	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6125	RPL5	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6204	RPS10	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6224	RPS20	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6165	RPL35A	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6223	RPS19	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6223	RPS19	OMIM:105650
HP:0000924	Abnormality of the skeletal system	6232	RPS27	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6231	RPS26	ORPHA:124
HP:0000924	Abnormality of the skeletal system	11224	RPL35	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6160	RPL31	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6218	RPS17	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6201	RPS7	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6155	RPL27	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6210	RPS15A	ORPHA:124
HP:0000924	Abnormality of the skeletal system	90121	TSR2	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6141	RPL18	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6235	RPS29	ORPHA:124
HP:0000924	Abnormality of the skeletal system	6234	RPS28	ORPHA:124
HP:0000924	Abnormality of the skeletal system	51816	ADA2	ORPHA:124
HP:0000924	Abnormality of the skeletal system	10992	SF3B2	OMIM:164210
HP:0000924	Abnormality of the skeletal system	27152	INTU	OMIM:617926
HP:0000924	Abnormality of the skeletal system	57020	VPS35L	OMIM:619135
HP:0000924	Abnormality of the skeletal system	6662	SOX9	OMIM:114290
HP:0000924	Abnormality of the skeletal system	3911	LAMA5	OMIM:620076
HP:0000924	Abnormality of the skeletal system	6736	SRY	ORPHA:1772
HP:0000924	Abnormality of the skeletal system	26224	FBXL3	OMIM:606220
HP:0000924	Abnormality of the skeletal system	55612	FERMT1	ORPHA:2908
HP:0000924	Abnormality of the skeletal system	5593	PRKG2	OMIM:619636
HP:0000924	Abnormality of the skeletal system	4810	NHS	ORPHA:627
HP:0000924	Abnormality of the skeletal system	1299	COL9A3	OMIM:600969
HP:0000924	Abnormality of the skeletal system	55252	ASXL2	OMIM:617190
HP:0000924	Abnormality of the skeletal system	5264	PHYH	ORPHA:773
HP:0000924	Abnormality of the skeletal system	5191	PEX7	ORPHA:773
HP:0000924	Abnormality of the skeletal system	1788	DNMT3A	OMIM:618724
HP:0000924	Abnormality of the skeletal system	83452	RAB33B	OMIM:615222
HP:0000924	Abnormality of the skeletal system	90417	KNSTRN	OMIM:613328
HP:0000924	Abnormality of the skeletal system	5293	PIK3CD	OMIM:613328
HP:0000924	Abnormality of the skeletal system	64682	ANAPC1	ORPHA:221008
HP:0000924	Abnormality of the skeletal system	3590	IL11RA	OMIM:614188
HP:0000924	Abnormality of the skeletal system	10059	DNM1L	OMIM:614388
HP:0000924	Abnormality of the skeletal system	4329	ALDH6A1	OMIM:614105
HP:0000924	Abnormality of the skeletal system	84720	PIGO	OMIM:614749
HP:0000924	Abnormality of the skeletal system	8085	KMT2D	OMIM:620186
HP:0000924	Abnormality of the skeletal system	7319	UBE2A	OMIM:300860
HP:0000924	Abnormality of the skeletal system	4212	MEIS2	OMIM:600987
HP:0000924	Abnormality of the skeletal system	6878	TAF6	OMIM:617126
HP:0000924	Abnormality of the skeletal system	285362	SUMF1	ORPHA:585
HP:0000924	Abnormality of the skeletal system	3764	KCNJ8	ORPHA:1517
HP:0000924	Abnormality of the skeletal system	60	ACTB	OMIM:243310
HP:0000924	Abnormality of the skeletal system	10060	ABCC9	OMIM:239850
HP:0000924	Abnormality of the skeletal system	10716	TBR1	ORPHA:1617
HP:0000924	Abnormality of the skeletal system	3736	KCNA1	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	2775	GNAO1	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	81603	TRIM8	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	2902	GRIN1	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	79751	SLC25A22	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	150094	SIK1	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	8573	CASK	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	23312	DMXL2	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	2917	GRM7	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	11284	PNKP	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	51227	PIGP	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	4761	NEUROD2	ORPHA:1934
HP:0000924	Abnormality of the skeletal system	23498	HAAO	OMIM:617660
HP:0000924	Abnormality of the skeletal system	6347	CCL2	OMIM:182940
HP:0000924	Abnormality of the skeletal system	6862	TBXT	OMIM:182940
HP:0000924	Abnormality of the skeletal system	6862	TBXT	OMIM:615709
HP:0000924	Abnormality of the skeletal system	3988	LIPA	OMIM:278000
HP:0000924	Abnormality of the skeletal system	3988	LIPA	ORPHA:75233
HP:0000924	Abnormality of the skeletal system	3988	LIPA	ORPHA:75234
HP:0000924	Abnormality of the skeletal system	7373	COL14A1	ORPHA:79501
HP:0000924	Abnormality of the skeletal system	79719	AAGAB	ORPHA:79501
HP:0000924	Abnormality of the skeletal system	7068	THRB	OMIM:274300
HP:0000924	Abnormality of the skeletal system	220202	ATOH7	ORPHA:91495
HP:0000924	Abnormality of the skeletal system	3949	LDLR	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	3949	LDLR	OMIM:143890
HP:0000924	Abnormality of the skeletal system	255738	PCSK9	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	255738	PCSK9	OMIM:603776
HP:0000924	Abnormality of the skeletal system	26119	LDLRAP1	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	26119	LDLRAP1	OMIM:603813
HP:0000924	Abnormality of the skeletal system	338	APOB	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	64240	ABCG5	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	64240	ABCG5	OMIM:618666
HP:0000924	Abnormality of the skeletal system	64241	ABCG8	ORPHA:391665
HP:0000924	Abnormality of the skeletal system	336	APOA2	OMIM:143890
HP:0000924	Abnormality of the skeletal system	2053	EPHX2	OMIM:143890
HP:0000924	Abnormality of the skeletal system	10842	PPP1R17	OMIM:143890
HP:0000924	Abnormality of the skeletal system	1071	CETP	ORPHA:79506
HP:0000924	Abnormality of the skeletal system	345	APOC3	ORPHA:79506
HP:0000924	Abnormality of the skeletal system	7274	TTPA	OMIM:277460
HP:0000924	Abnormality of the skeletal system	348	APOE	ORPHA:412
HP:0000924	Abnormality of the skeletal system	335	APOA1	OMIM:618463
HP:0000924	Abnormality of the skeletal system	3043	HBB	ORPHA:232
HP:0000924	Abnormality of the skeletal system	84196	USP48	ORPHA:96253
HP:0000924	Abnormality of the skeletal system	7157	TP53	ORPHA:96253
HP:0000924	Abnormality of the skeletal system	9101	USP8	ORPHA:96253
HP:0000924	Abnormality of the skeletal system	64072	CDH23	ORPHA:96253
HP:0000924	Abnormality of the skeletal system	2908	NR3C1	ORPHA:96253
HP:0000924	Abnormality of the skeletal system	3572	IL6ST	OMIM:619750
HP:0000924	Abnormality of the skeletal system	8518	ELP1	ORPHA:1764
HP:0000924	Abnormality of the skeletal system	3248	HPGD	ORPHA:2796
HP:0000924	Abnormality of the skeletal system	6578	SLCO2A1	ORPHA:2796
HP:0000924	Abnormality of the skeletal system	4914	NTRK1	ORPHA:642
HP:0000924	Abnormality of the skeletal system	4125	MAN2B1	ORPHA:309282
HP:0000924	Abnormality of the skeletal system	10269	ZMPSTE24	ORPHA:740
HP:0000924	Abnormality of the skeletal system	1186	CLCN7	ORPHA:53
HP:0000924	Abnormality of the skeletal system	2629	GBA1	ORPHA:77261
HP:0000924	Abnormality of the skeletal system	2629	GBA1	OMIM:230800
HP:0000924	Abnormality of the skeletal system	2629	GBA1	ORPHA:77259
HP:0000924	Abnormality of the skeletal system	80169	CTC1	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	26277	TINF2	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	55651	NHP2	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	79650	USB1	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	55135	WRAP53	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	51750	RTEL1	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	4869	NPM1	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	7012	TERC	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	55505	NOP10	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	5073	PARN	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	7015	TERT	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	7015	TERT	OMIM:613989
HP:0000924	Abnormality of the skeletal system	1736	DKC1	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	7298	TYMS	ORPHA:1775
HP:0000924	Abnormality of the skeletal system	950	SCARB2	ORPHA:77259
HP:0000924	Abnormality of the skeletal system	149233	IL23R	ORPHA:117
HP:0000924	Abnormality of the skeletal system	6775	STAT4	ORPHA:117
HP:0000924	Abnormality of the skeletal system	3586	IL10	ORPHA:117
HP:0000924	Abnormality of the skeletal system	4210	MEFV	ORPHA:117
HP:0000924	Abnormality of the skeletal system	1230	CCR1	ORPHA:117
HP:0000924	Abnormality of the skeletal system	355	FAS	ORPHA:117
HP:0000924	Abnormality of the skeletal system	3592	IL12A	ORPHA:117
HP:0000924	Abnormality of the skeletal system	101928376	IL12A-AS1	ORPHA:117
HP:0000924	Abnormality of the skeletal system	3106	HLA-B	ORPHA:117
HP:0000924	Abnormality of the skeletal system	7099	TLR4	ORPHA:117
HP:0000924	Abnormality of the skeletal system	3459	IFNGR1	ORPHA:117
HP:0000924	Abnormality of the skeletal system	720	C4A	ORPHA:117
HP:0000924	Abnormality of the skeletal system	337867	UBAC2	ORPHA:117
HP:0000924	Abnormality of the skeletal system	51752	ERAP1	ORPHA:117
HP:0000924	Abnormality of the skeletal system	8302	KLRC4	ORPHA:117
HP:0000924	Abnormality of the skeletal system	4322	MMP13	OMIM:250400
HP:0000924	Abnormality of the skeletal system	1499	CTNNB1	ORPHA:54595
HP:0000924	Abnormality of the skeletal system	6496	SIX3	OMIM:157170
HP:0000924	Abnormality of the skeletal system	60529	ALX4	OMIM:613451
HP:0000924	Abnormality of the skeletal system	4160	MC4R	OMIM:618406
HP:0000924	Abnormality of the skeletal system	83706	FERMT3	OMIM:612840
HP:0000924	Abnormality of the skeletal system	5880	RAC2	OMIM:618986
HP:0000924	Abnormality of the skeletal system	9094	UNC119	OMIM:615518
HP:0000924	Abnormality of the skeletal system	6813	STXBP2	OMIM:613101
HP:0000924	Abnormality of the skeletal system	50615	IL21R	OMIM:615207
HP:0000924	Abnormality of the skeletal system	85452	CFAP74	OMIM:620197
HP:0000924	Abnormality of the skeletal system	8382	NME5	OMIM:620032
HP:0000924	Abnormality of the skeletal system	84061	MAGT1	OMIM:300853
HP:0000924	Abnormality of the skeletal system	10625	IVNS1ABP	OMIM:618969
HP:0000924	Abnormality of the skeletal system	3551	IKBKB	OMIM:618204
HP:0000924	Abnormality of the skeletal system	81704	DOCK8	OMIM:243700
HP:0000924	Abnormality of the skeletal system	81704	DOCK8	ORPHA:217390
HP:0000924	Abnormality of the skeletal system	721	C4B	OMIM:614379
HP:0000924	Abnormality of the skeletal system	6688	SPI1	OMIM:619707
HP:0000924	Abnormality of the skeletal system	2214	FCGR3A	OMIM:615707
HP:0000924	Abnormality of the skeletal system	6890	TAP1	OMIM:604571
HP:0000924	Abnormality of the skeletal system	6891	TAP2	OMIM:604571
HP:0000924	Abnormality of the skeletal system	6892	TAPBP	OMIM:604571
HP:0000924	Abnormality of the skeletal system	54440	SASH3	OMIM:301082
HP:0000924	Abnormality of the skeletal system	146845	CFAP52	OMIM:619607
HP:0000924	Abnormality of the skeletal system	25790	CFAP45	OMIM:619608
HP:0000924	Abnormality of the skeletal system	11146	GLMN	ORPHA:83454
HP:0000924	Abnormality of the skeletal system	29998	BICRA	OMIM:619325
HP:0000924	Abnormality of the skeletal system	92579	G6PC3	OMIM:612541
HP:0000924	Abnormality of the skeletal system	8726	EED	OMIM:617561
HP:0000924	Abnormality of the skeletal system	8726	EED	ORPHA:3447
HP:0000924	Abnormality of the skeletal system	5718	PSMD12	ORPHA:529962
HP:0000924	Abnormality of the skeletal system	657	BMPR1A	ORPHA:79076
HP:0000924	Abnormality of the skeletal system	79759	ZNF668	OMIM:620194
HP:0000924	Abnormality of the skeletal system	4123	MAN2C1	OMIM:619775
HP:0000924	Abnormality of the skeletal system	2146	EZH2	OMIM:277590
HP:0000924	Abnormality of the skeletal system	2146	EZH2	ORPHA:3447
HP:0000924	Abnormality of the skeletal system	64324	NSD1	ORPHA:3447
HP:0000924	Abnormality of the skeletal system	23512	SUZ12	ORPHA:3447
HP:0000924	Abnormality of the skeletal system	5587	PRKD1	OMIM:617364
HP:0000924	Abnormality of the skeletal system	93587	TRMT10A	ORPHA:391408
HP:0000924	Abnormality of the skeletal system	84919	PPP1R15B	ORPHA:391408
HP:0000924	Abnormality of the skeletal system	7355	SLC35A2	ORPHA:356961
HP:0000924	Abnormality of the skeletal system	1497	CTNS	ORPHA:411634
HP:0000924	Abnormality of the skeletal system	3178	HNRNPA1	ORPHA:52430
HP:0000924	Abnormality of the skeletal system	7415	VCP	ORPHA:52430
HP:0000924	Abnormality of the skeletal system	3181	HNRNPA2B1	ORPHA:52430
HP:0000924	Abnormality of the skeletal system	8294	H4C9	OMIM:619951
HP:0000924	Abnormality of the skeletal system	5881	RAC3	OMIM:618577
HP:0000924	Abnormality of the skeletal system	815	CAMK2A	OMIM:617798
HP:0000924	Abnormality of the skeletal system	2890	GRIA1	OMIM:619927
HP:0000924	Abnormality of the skeletal system	781	CACNA2D1	OMIM:620149
HP:0000924	Abnormality of the skeletal system	51604	PIGT	OMIM:615398
HP:0000924	Abnormality of the skeletal system	158326	FREM1	OMIM:614485
HP:0000924	Abnormality of the skeletal system	1024	CDK8	OMIM:618748
HP:0000924	Abnormality of the skeletal system	4774	NFIA	OMIM:613735
HP:0000924	Abnormality of the skeletal system	8496	PPFIBP1	OMIM:620024
HP:0000924	Abnormality of the skeletal system	56098	PCDHGC4	OMIM:619880
HP:0000924	Abnormality of the skeletal system	10736	SIX2	ORPHA:488437
HP:0000924	Abnormality of the skeletal system	1642	DDB1	OMIM:619426
HP:0000924	Abnormality of the skeletal system	11160	ERLIN2	ORPHA:280384
HP:0000924	Abnormality of the skeletal system	11160	ERLIN2	ORPHA:209951
HP:0000924	Abnormality of the skeletal system	11160	ERLIN2	OMIM:611225
HP:0000924	Abnormality of the skeletal system	85465	SELENOI	ORPHA:506353
HP:0000924	Abnormality of the skeletal system	85465	SELENOI	OMIM:618768
HP:0000924	Abnormality of the skeletal system	51062	ATL1	ORPHA:100984
HP:0000924	Abnormality of the skeletal system	4728	NDUFS8	OMIM:618222
HP:0000924	Abnormality of the skeletal system	10159	ATP6AP2	ORPHA:363654
HP:0000924	Abnormality of the skeletal system	6683	SPAST	ORPHA:100985
HP:0000924	Abnormality of the skeletal system	9420	CYP7B1	ORPHA:100986
HP:0000924	Abnormality of the skeletal system	23516	SLC39A14	OMIM:617013
HP:0000924	Abnormality of the skeletal system	23516	SLC39A14	ORPHA:521406
HP:0000924	Abnormality of the skeletal system	3839	KPNA3	OMIM:620106
HP:0000924	Abnormality of the skeletal system	959	CD40LG	OMIM:308230
HP:0000924	Abnormality of the skeletal system	64837	KLC2	OMIM:609541
HP:0000924	Abnormality of the skeletal system	2258	FGF13	OMIM:301058
HP:0000924	Abnormality of the skeletal system	440193	CCDC88C	OMIM:616053
HP:0000924	Abnormality of the skeletal system	6647	SOD1	OMIM:618598
HP:0000924	Abnormality of the skeletal system	6253	RTN2	OMIM:604805
HP:0000924	Abnormality of the skeletal system	84340	GFM2	OMIM:618397
HP:0000924	Abnormality of the skeletal system	84340	GFM2	ORPHA:565624
HP:0000924	Abnormality of the skeletal system	79152	FA2H	ORPHA:171629
HP:0000924	Abnormality of the skeletal system	79152	FA2H	OMIM:612319
HP:0000924	Abnormality of the skeletal system	9409	PEX16	OMIM:614877
HP:0000924	Abnormality of the skeletal system	6509	SLC1A4	OMIM:616657
HP:0000924	Abnormality of the skeletal system	9338	TCEAL1	OMIM:301094
HP:0000924	Abnormality of the skeletal system	5456	POU3F4	ORPHA:1435
HP:0000924	Abnormality of the skeletal system	55129	ANO10	ORPHA:284289
HP:0000924	Abnormality of the skeletal system	16	AARS1	OMIM:619691
HP:0000924	Abnormality of the skeletal system	219285	SAMD9L	OMIM:159550
HP:0000924	Abnormality of the skeletal system	3064	HTT	OMIM:617435
HP:0000924	Abnormality of the skeletal system	118813	ZFYVE27	OMIM:610244
HP:0000924	Abnormality of the skeletal system	57704	GBA2	OMIM:614409
HP:0000924	Abnormality of the skeletal system	2581	GALC	ORPHA:206436
HP:0000924	Abnormality of the skeletal system	5660	PSAP	ORPHA:206436
HP:0000924	Abnormality of the skeletal system	1678	TIMM8A	ORPHA:52368
HP:0000924	Abnormality of the skeletal system	6712	SPTBN2	OMIM:600224
HP:0000924	Abnormality of the skeletal system	823	CAPN1	ORPHA:488594
HP:0000924	Abnormality of the skeletal system	10749	KIF1C	OMIM:611302
HP:0000924	Abnormality of the skeletal system	113278	SLC52A3	OMIM:211530
HP:0000924	Abnormality of the skeletal system	11113	CIT	OMIM:617090
HP:0000924	Abnormality of the skeletal system	27183	VPS4A	OMIM:619273
HP:0000924	Abnormality of the skeletal system	3376	IARS1	OMIM:617093
HP:0000924	Abnormality of the skeletal system	1021	CDK6	OMIM:616080
HP:0000924	Abnormality of the skeletal system	80347	COASY	OMIM:618266
HP:0000924	Abnormality of the skeletal system	2903	GRIN2A	OMIM:245570
HP:0000924	Abnormality of the skeletal system	2903	GRIN2A	ORPHA:289266
HP:0000924	Abnormality of the skeletal system	163786	SASS6	OMIM:616402
HP:0000924	Abnormality of the skeletal system	51343	FZR1	OMIM:620145
HP:0000924	Abnormality of the skeletal system	81570	CLPB	ORPHA:445038
HP:0000924	Abnormality of the skeletal system	51112	TRAPPC12	ORPHA:500144
HP:0000924	Abnormality of the skeletal system	51124	IER3IP1	OMIM:614231
HP:0000924	Abnormality of the skeletal system	9918	NCAPD2	OMIM:617983
HP:0000924	Abnormality of the skeletal system	55755	CDK5RAP2	OMIM:604804
HP:0000924	Abnormality of the skeletal system	25828	TXN2	ORPHA:478029
HP:0000924	Abnormality of the skeletal system	55262	TRAPPC14	OMIM:618351
HP:0000924	Abnormality of the skeletal system	1841	DTYMK	OMIM:619847
HP:0000924	Abnormality of the skeletal system	9662	CEP135	OMIM:614673
HP:0000924	Abnormality of the skeletal system	27185	DISC1	ORPHA:171703
HP:0000924	Abnormality of the skeletal system	8320	EOMES	ORPHA:171703
HP:0000924	Abnormality of the skeletal system	57082	KNL1	OMIM:604321
HP:0000924	Abnormality of the skeletal system	55691	FRMD4A	OMIM:616819
HP:0000924	Abnormality of the skeletal system	55691	FRMD4A	ORPHA:466688
HP:0000924	Abnormality of the skeletal system	63925	ZNF335	OMIM:615095
HP:0000924	Abnormality of the skeletal system	1984	EIF5A	OMIM:619376
HP:0000924	Abnormality of the skeletal system	23511	NUP188	OMIM:618804
HP:0000924	Abnormality of the skeletal system	51294	PCDH12	OMIM:251280
HP:0000924	Abnormality of the skeletal system	10015	PDCD6IP	OMIM:620047
HP:0000924	Abnormality of the skeletal system	80254	CEP63	OMIM:614728
HP:0000924	Abnormality of the skeletal system	79648	MCPH1	OMIM:251200
HP:0000924	Abnormality of the skeletal system	6045	RNF2	OMIM:619460
HP:0000924	Abnormality of the skeletal system	283989	TSEN54	ORPHA:166063
HP:0000924	Abnormality of the skeletal system	4905	NSF	OMIM:619340
HP:0000924	Abnormality of the skeletal system	9181	ARHGEF2	OMIM:617523
HP:0000924	Abnormality of the skeletal system	6452	SH3BP2	ORPHA:184
HP:0000924	Abnormality of the skeletal system	7276	TTR	OMIM:115430
HP:0000924	Abnormality of the skeletal system	55719	SLF2	OMIM:620184
HP:0000924	Abnormality of the skeletal system	4508	MT-ATP6	ORPHA:320360
HP:0000924	Abnormality of the skeletal system	4566	MT-TK	ORPHA:1349
HP:0000924	Abnormality of the skeletal system	6840	SVIL	OMIM:619040
HP:0000924	Abnormality of the skeletal system	28982	FLVCR1	ORPHA:88628
HP:0000924	Abnormality of the skeletal system	28982	FLVCR1	OMIM:609033
HP:0000924	Abnormality of the skeletal system	6399	TRAPPC2	ORPHA:93284
HP:0000924	Abnormality of the skeletal system	5696	PSMB8	OMIM:256040
HP:0000924	Abnormality of the skeletal system	5692	PSMB4	OMIM:617591
HP:0000924	Abnormality of the skeletal system	5698	PSMB9	OMIM:617591
HP:0000924	Abnormality of the skeletal system	4952	OCRL	OMIM:309000
HP:0000924	Abnormality of the skeletal system	64127	NOD2	OMIM:186580
HP:0000924	Abnormality of the skeletal system	9927	MFN2	ORPHA:99947
HP:0000924	Abnormality of the skeletal system	3852	KRT5	ORPHA:79400
HP:0000924	Abnormality of the skeletal system	3861	KRT14	ORPHA:79400
HP:0000924	Abnormality of the skeletal system	4722	NDUFS3	OMIM:618230
HP:0000924	Abnormality of the skeletal system	22943	DKK1	ORPHA:268882
HP:0000924	Abnormality of the skeletal system	8398	PLA2G6	ORPHA:199351
HP:0000924	Abnormality of the skeletal system	10559	SLC35A1	OMIM:603585
HP:0000924	Abnormality of the skeletal system	84231	TRAF7	OMIM:618164
HP:0000924	Abnormality of the skeletal system	11043	MID2	OMIM:300928
HP:0000924	Abnormality of the skeletal system	3872	KRT17	ORPHA:2309
HP:0000924	Abnormality of the skeletal system	3853	KRT6A	ORPHA:2309
HP:0000924	Abnormality of the skeletal system	3854	KRT6B	ORPHA:2309
HP:0000924	Abnormality of the skeletal system	51256	TBC1D7	OMIM:248000
HP:0000924	Abnormality of the skeletal system	55623	THUMPD1	OMIM:619989
HP:0000924	Abnormality of the skeletal system	162514	TRPV3	ORPHA:659
HP:0000924	Abnormality of the skeletal system	64065	PERP	ORPHA:659
HP:0000924	Abnormality of the skeletal system	64132	XYLT2	OMIM:605822
HP:0000924	Abnormality of the skeletal system	10312	TCIRG1	OMIM:259700
HP:0000924	Abnormality of the skeletal system	8792	TNFRSF11A	OMIM:612301
HP:0000924	Abnormality of the skeletal system	221496	LEMD2	OMIM:619322
HP:0000924	Abnormality of the skeletal system	1277	COL1A1	OMIM:619115
HP:0000924	Abnormality of the skeletal system	1290	COL5A2	OMIM:130010
HP:0000924	Abnormality of the skeletal system	2688	GH1	OMIM:612781
HP:0000924	Abnormality of the skeletal system	128	ADH5	OMIM:619151
HP:0000924	Abnormality of the skeletal system	8651	SOCS1	OMIM:619375
HP:0000924	Abnormality of the skeletal system	3373	HYAL1	OMIM:601492
HP:0000924	Abnormality of the skeletal system	8815	BANF1	OMIM:614008
HP:0000924	Abnormality of the skeletal system	64423	INF2	OMIM:614455
HP:0000924	Abnormality of the skeletal system	8566	PDXK	OMIM:618511
HP:0000924	Abnormality of the skeletal system	57038	RARS2	OMIM:611523
HP:0000924	Abnormality of the skeletal system	79644	SRD5A3	OMIM:612713
HP:0000924	Abnormality of the skeletal system	26092	TOR1AIP1	OMIM:617072
HP:0000924	Abnormality of the skeletal system	11340	EXOSC8	OMIM:616081
HP:0000924	Abnormality of the skeletal system	197258	FCSK	OMIM:618324
HP:0000924	Abnormality of the skeletal system	2530	FUT8	OMIM:618005
HP:0000924	Abnormality of the skeletal system	11019	LIAS	OMIM:614462
HP:0000924	Abnormality of the skeletal system	51501	HIKESHI	OMIM:616881
HP:0000924	Abnormality of the skeletal system	9255	AIMP1	OMIM:260600
HP:0000924	Abnormality of the skeletal system	56270	WDR45B	OMIM:617977
HP:0000924	Abnormality of the skeletal system	5111	PCNA	OMIM:615919
HP:0000924	Abnormality of the skeletal system	65993	MRPS34	OMIM:617664
HP:0000924	Abnormality of the skeletal system	2893	GRIA4	OMIM:617864
HP:0000924	Abnormality of the skeletal system	6785	ELOVL4	OMIM:614457
HP:0000924	Abnormality of the skeletal system	23534	TNPO3	OMIM:608423
HP:0000924	Abnormality of the skeletal system	126129	CPT1C	OMIM:616282
HP:0000924	Abnormality of the skeletal system	129685	TAF8	OMIM:619972
HP:0000924	Abnormality of the skeletal system	10466	COG5	ORPHA:263487
HP:0000924	Abnormality of the skeletal system	84342	COG8	OMIM:611182
HP:0000924	Abnormality of the skeletal system	79731	NARS2	ORPHA:79134
HP:0000924	Abnormality of the skeletal system	5654	HTRA1	ORPHA:199354
HP:0000924	Abnormality of the skeletal system	8738	CRADD	OMIM:614499
HP:0000924	Abnormality of the skeletal system	79228	THOC6	ORPHA:363444
HP:0000924	Abnormality of the skeletal system	57589	RIC1	OMIM:618761
HP:0000924	Abnormality of the skeletal system	387119	CEP85L	OMIM:618873
HP:0000924	Abnormality of the skeletal system	55280	CWF19L1	ORPHA:453521
HP:0000924	Abnormality of the skeletal system	55280	CWF19L1	OMIM:616127
HP:0000924	Abnormality of the skeletal system	2904	GRIN2B	OMIM:616139
HP:0000924	Abnormality of the skeletal system	644096	SDHAF1	ORPHA:3208
HP:0000924	Abnormality of the skeletal system	55503	TRPV6	OMIM:618188
HP:0000924	Abnormality of the skeletal system	25923	ATL3	OMIM:615632
HP:0000924	Abnormality of the skeletal system	23102	TBC1D2B	ORPHA:397973
HP:0000924	Abnormality of the skeletal system	3835	KIF22	ORPHA:93360
HP:0000924	Abnormality of the skeletal system	1063	CENPF	OMIM:243605
HP:0000924	Abnormality of the skeletal system	26047	CNTNAP2	ORPHA:163681
HP:0000924	Abnormality of the skeletal system	348180	CTU2	OMIM:618142
HP:0000924	Abnormality of the skeletal system	9371	KIF3B	OMIM:618955
HP:0000924	Abnormality of the skeletal system	286204	CRB2	OMIM:219730
HP:0000924	Abnormality of the skeletal system	84300	UQCC2	OMIM:615824
HP:0000924	Abnormality of the skeletal system	111	ADCY5	OMIM:606703
HP:0000924	Abnormality of the skeletal system	27235	COQ2	ORPHA:227510
HP:0000924	Abnormality of the skeletal system	27235	COQ2	ORPHA:98933
HP:0000924	Abnormality of the skeletal system	10463	SLC30A9	OMIM:617595
HP:0000924	Abnormality of the skeletal system	3071	NCKAP1L	OMIM:618982
HP:0000924	Abnormality of the skeletal system	729238	SFTPA2	ORPHA:2032
HP:0000924	Abnormality of the skeletal system	729238	SFTPA2	OMIM:178500
HP:0000924	Abnormality of the skeletal system	727897	MUC5B	ORPHA:2032
HP:0000924	Abnormality of the skeletal system	727897	MUC5B	OMIM:178500
HP:0000924	Abnormality of the skeletal system	10144	FAM13A	ORPHA:2032
HP:0000924	Abnormality of the skeletal system	91039	DPP9	ORPHA:2032
HP:0000924	Abnormality of the skeletal system	440275	EIF2AK4	ORPHA:199241
HP:0000924	Abnormality of the skeletal system	59067	IL21	OMIM:615767
HP:0000924	Abnormality of the skeletal system	79651	RHBDF2	ORPHA:2198
HP:0000924	Abnormality of the skeletal system	7092	TLL1	ORPHA:99106
HP:0000924	Abnormality of the skeletal system	274	BIN1	ORPHA:169186
HP:0000924	Abnormality of the skeletal system	10290	SPEG	ORPHA:169186
HP:0000924	Abnormality of the skeletal system	6261	RYR1	ORPHA:169186
HP:0000924	Abnormality of the skeletal system	7273	TTN	ORPHA:169186
HP:0000924	Abnormality of the skeletal system	57459	GATAD2B	OMIM:615074
HP:0000924	Abnormality of the skeletal system	57459	GATAD2B	ORPHA:363686
HP:0000924	Abnormality of the skeletal system	1281	COL3A1	OMIM:618343
HP:0000924	Abnormality of the skeletal system	6660	SOX5	OMIM:616803
HP:0000924	Abnormality of the skeletal system	51520	LARS1	OMIM:615438
HP:0000924	Abnormality of the skeletal system	11128	POLR3A	OMIM:264090
HP:0000924	Abnormality of the skeletal system	11128	POLR3A	ORPHA:3455
HP:0000924	Abnormality of the skeletal system	116931	MED12L	OMIM:618872
HP:0000924	Abnormality of the skeletal system	203068	TUBB	OMIM:156610
HP:0000924	Abnormality of the skeletal system	9772	TMEM94	OMIM:618316
HP:0000924	Abnormality of the skeletal system	79971	WLS	OMIM:619648
HP:0000924	Abnormality of the skeletal system	2556	GABRA3	OMIM:301091
HP:0000924	Abnormality of the skeletal system	5373	PMM2	ORPHA:79318
HP:0000924	Abnormality of the skeletal system	51651	PTRH2	OMIM:616263
HP:0000924	Abnormality of the skeletal system	51651	PTRH2	ORPHA:456312
HP:0000924	Abnormality of the skeletal system	7528	YY1	OMIM:617557
HP:0000924	Abnormality of the skeletal system	755	CFAP410	OMIM:602271
HP:0000924	Abnormality of the skeletal system	5286	PIK3C2A	OMIM:618440
HP:0000924	Abnormality of the skeletal system	5830	PEX5	OMIM:616716
HP:0000924	Abnormality of the skeletal system	4041	LRP5	ORPHA:2790
HP:0000924	Abnormality of the skeletal system	4041	LRP5	OMIM:144750
HP:0000924	Abnormality of the skeletal system	79705	LRRK1	OMIM:615198
HP:0000924	Abnormality of the skeletal system	23592	LEMD3	ORPHA:166119
HP:0000924	Abnormality of the skeletal system	1235	CCR6	ORPHA:220393
HP:0000924	Abnormality of the skeletal system	1235	CCR6	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	1490	CCN2	ORPHA:220393
HP:0000924	Abnormality of the skeletal system	1490	CCN2	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	3663	IRF5	ORPHA:220393
HP:0000924	Abnormality of the skeletal system	3663	IRF5	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	857	CAV1	ORPHA:220393
HP:0000924	Abnormality of the skeletal system	857	CAV1	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	3123	HLA-DRB1	ORPHA:220393
HP:0000924	Abnormality of the skeletal system	3123	HLA-DRB1	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	79932	KIAA0319L	ORPHA:220402
HP:0000924	Abnormality of the skeletal system	9842	PLEKHM1	OMIM:611497
HP:0000924	Abnormality of the skeletal system	404672	GTF2H5	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	833	CARS1	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	2068	ERCC2	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	7737	RNF113A	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	136647	MPLKIP	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	6897	TARS1	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	2071	ERCC3	ORPHA:33364
HP:0000924	Abnormality of the skeletal system	2961	GTF2E2	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	11253	MAN1B1	ORPHA:397941
HP:0000925	Abnormality of the vertebral column	11253	MAN1B1	OMIM:614202
HP:0000925	Abnormality of the vertebral column	55627	SMPD4	OMIM:618622
HP:0000925	Abnormality of the vertebral column	5361	PLXNA1	OMIM:619955
HP:0000925	Abnormality of the vertebral column	83696	TRAPPC9	OMIM:613192
HP:0000925	Abnormality of the vertebral column	1020	CDK5	OMIM:616342
HP:0000925	Abnormality of the vertebral column	2626	GATA4	ORPHA:251071
HP:0000925	Abnormality of the vertebral column	10716	TBR1	ORPHA:1617
HP:0000925	Abnormality of the vertebral column	92482	BBIP1	ORPHA:110
HP:0000925	Abnormality of the vertebral column	11020	IFT27	ORPHA:110
HP:0000925	Abnormality of the vertebral column	582	BBS1	ORPHA:110
HP:0000925	Abnormality of the vertebral column	49855	SCAPER	ORPHA:110
HP:0000925	Abnormality of the vertebral column	51057	WDPCP	ORPHA:110
HP:0000925	Abnormality of the vertebral column	27241	BBS9	ORPHA:110
HP:0000925	Abnormality of the vertebral column	84984	CEP19	ORPHA:110
HP:0000925	Abnormality of the vertebral column	22954	TRIM32	ORPHA:110
HP:0000925	Abnormality of the vertebral column	79738	BBS10	ORPHA:110
HP:0000925	Abnormality of the vertebral column	123016	TTC8	ORPHA:110
HP:0000925	Abnormality of the vertebral column	583	BBS2	ORPHA:110
HP:0000925	Abnormality of the vertebral column	585	BBS4	ORPHA:110
HP:0000925	Abnormality of the vertebral column	8195	MKKS	ORPHA:110
HP:0000925	Abnormality of the vertebral column	54585	LZTFL1	ORPHA:110
HP:0000925	Abnormality of the vertebral column	55212	BBS7	ORPHA:110
HP:0000925	Abnormality of the vertebral column	166379	BBS12	ORPHA:110
HP:0000925	Abnormality of the vertebral column	10806	SDCCAG8	ORPHA:110
HP:0000925	Abnormality of the vertebral column	157657	CFAP418	ORPHA:110
HP:0000925	Abnormality of the vertebral column	84100	ARL6	ORPHA:110
HP:0000925	Abnormality of the vertebral column	129880	BBS5	ORPHA:110
HP:0000925	Abnormality of the vertebral column	80173	IFT74	ORPHA:110
HP:0000925	Abnormality of the vertebral column	9895	TECPR2	OMIM:615031
HP:0000925	Abnormality of the vertebral column	9895	TECPR2	ORPHA:320385
HP:0000925	Abnormality of the vertebral column	92609	TIMM50	OMIM:617698
HP:0000925	Abnormality of the vertebral column	79770	TXNDC15	OMIM:619879
HP:0000925	Abnormality of the vertebral column	91949	COG7	ORPHA:79333
HP:0000925	Abnormality of the vertebral column	91949	COG7	OMIM:608779
HP:0000925	Abnormality of the vertebral column	56975	FAM20C	ORPHA:1832
HP:0000925	Abnormality of the vertebral column	56975	FAM20C	OMIM:259775
HP:0000925	Abnormality of the vertebral column	2556	GABRA3	OMIM:301091
HP:0000925	Abnormality of the vertebral column	25836	NIPBL	OMIM:122470
HP:0000925	Abnormality of the vertebral column	25836	NIPBL	ORPHA:199
HP:0000925	Abnormality of the vertebral column	6138	RPL15	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6229	RPS24	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6125	RPL5	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6204	RPS10	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6224	RPS20	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6165	RPL35A	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6232	RPS27	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6231	RPS26	ORPHA:124
HP:0000925	Abnormality of the vertebral column	11224	RPL35	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6160	RPL31	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6218	RPS17	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6201	RPS7	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6155	RPL27	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6154	RPL26	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6210	RPS15A	ORPHA:124
HP:0000925	Abnormality of the vertebral column	90121	TSR2	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6141	RPL18	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6235	RPS29	ORPHA:124
HP:0000925	Abnormality of the vertebral column	6234	RPS28	ORPHA:124
HP:0000925	Abnormality of the vertebral column	51816	ADA2	ORPHA:124
HP:0000925	Abnormality of the vertebral column	9742	IFT140	OMIM:266920
HP:0000925	Abnormality of the vertebral column	54101	RIPK4	OMIM:263650
HP:0000925	Abnormality of the vertebral column	9949	AMMECR1	OMIM:300990
HP:0000925	Abnormality of the vertebral column	10466	COG5	ORPHA:263487
HP:0000925	Abnormality of the vertebral column	8675	STX16	ORPHA:94089
HP:0000925	Abnormality of the vertebral column	55869	HDAC8	OMIM:300882
HP:0000925	Abnormality of the vertebral column	55869	HDAC8	ORPHA:199
HP:0000925	Abnormality of the vertebral column	5010	CLDN11	OMIM:619328
HP:0000925	Abnormality of the vertebral column	9126	SMC3	OMIM:610759
HP:0000925	Abnormality of the vertebral column	9126	SMC3	ORPHA:199
HP:0000925	Abnormality of the vertebral column	79068	FTO	OMIM:612938
HP:0000925	Abnormality of the vertebral column	3039	HBA1	ORPHA:98791
HP:0000925	Abnormality of the vertebral column	3040	HBA2	ORPHA:98791
HP:0000925	Abnormality of the vertebral column	10082	GPC6	OMIM:258315
HP:0000925	Abnormality of the vertebral column	23389	MED13L	ORPHA:369891
HP:0000925	Abnormality of the vertebral column	23389	MED13L	OMIM:616789
HP:0000925	Abnormality of the vertebral column	7319	UBE2A	OMIM:300860
HP:0000925	Abnormality of the vertebral column	26005	C2CD3	ORPHA:434179
HP:0000925	Abnormality of the vertebral column	6513	SLC2A1	ORPHA:168577
HP:0000925	Abnormality of the vertebral column	203068	TUBB	OMIM:156610
HP:0000925	Abnormality of the vertebral column	226	ALDOA	OMIM:611881
HP:0000925	Abnormality of the vertebral column	51594	NBAS	OMIM:614800
HP:0000925	Abnormality of the vertebral column	4683	NBN	ORPHA:647
HP:0000925	Abnormality of the vertebral column	51109	RDH11	ORPHA:436245
HP:0000925	Abnormality of the vertebral column	5393	EXOSC9	OMIM:618065
HP:0000925	Abnormality of the vertebral column	26128	KIFBP	OMIM:609460
HP:0000925	Abnormality of the vertebral column	23556	PIGN	ORPHA:2059
HP:0000925	Abnormality of the vertebral column	23556	PIGN	ORPHA:280633
HP:0000925	Abnormality of the vertebral column	57539	WDR35	OMIM:613610
HP:0000925	Abnormality of the vertebral column	118429	ANTXR2	ORPHA:2176
HP:0000925	Abnormality of the vertebral column	6812	STXBP1	ORPHA:495818
HP:0000925	Abnormality of the vertebral column	80055	PGAP1	OMIM:615802
HP:0000925	Abnormality of the vertebral column	10847	SRCAP	ORPHA:2044
HP:0000925	Abnormality of the vertebral column	10847	SRCAP	OMIM:136140
HP:0000925	Abnormality of the vertebral column	10978	CLP1	OMIM:615803
HP:0000925	Abnormality of the vertebral column	26153	KIF26A	OMIM:620156
HP:0000925	Abnormality of the vertebral column	1954	MEGF8	OMIM:614976
HP:0000925	Abnormality of the vertebral column	79053	ALG8	OMIM:608104
HP:0000925	Abnormality of the vertebral column	26227	PHGDH	OMIM:256520
HP:0000925	Abnormality of the vertebral column	55165	CEP55	OMIM:236500
HP:0000925	Abnormality of the vertebral column	51322	WAC	OMIM:616708
HP:0000925	Abnormality of the vertebral column	701	BUB1B	OMIM:257300
HP:0000925	Abnormality of the vertebral column	27152	INTU	OMIM:617925
HP:0000925	Abnormality of the vertebral column	27152	INTU	OMIM:617926
HP:0000925	Abnormality of the vertebral column	6888	TALDO1	OMIM:606003
HP:0000925	Abnormality of the vertebral column	27238	GPKOW	ORPHA:2570
HP:0000925	Abnormality of the vertebral column	113179	ADAT3	ORPHA:363528
HP:0000925	Abnormality of the vertebral column	91869	RFT1	OMIM:612015
HP:0000925	Abnormality of the vertebral column	10982	MAPRE2	OMIM:616734
HP:0000925	Abnormality of the vertebral column	2073	ERCC5	ORPHA:1466
HP:0000925	Abnormality of the vertebral column	5925	RB1	ORPHA:1587
HP:0000925	Abnormality of the vertebral column	23511	NUP188	OMIM:618804
HP:0000925	Abnormality of the vertebral column	10943	MSL3	OMIM:301032
HP:0000925	Abnormality of the vertebral column	29980	DONSON	OMIM:251230
HP:0000925	Abnormality of the vertebral column	23476	BRD4	ORPHA:199
HP:0000925	Abnormality of the vertebral column	10367	MICU1	OMIM:615673
HP:0000925	Abnormality of the vertebral column	91461	PKDCC	OMIM:618821
HP:0000925	Abnormality of the vertebral column	6182	MRPL12	OMIM:618951
HP:0000925	Abnormality of the vertebral column	1806	DPYD	ORPHA:1675
HP:0000925	Abnormality of the vertebral column	22861	NLRP1	OMIM:615225
HP:0000925	Abnormality of the vertebral column	84172	POLR1B	ORPHA:861
HP:0000925	Abnormality of the vertebral column	9533	POLR1C	ORPHA:861
HP:0000925	Abnormality of the vertebral column	51082	POLR1D	ORPHA:861
HP:0000925	Abnormality of the vertebral column	6949	TCOF1	ORPHA:861
HP:0000925	Abnormality of the vertebral column	27245	AHDC1	ORPHA:412069
HP:0000925	Abnormality of the vertebral column	56172	ANKH	OMIM:123000
HP:0000925	Abnormality of the vertebral column	4750	NEK1	OMIM:263520
HP:0000925	Abnormality of the vertebral column	755	CFAP410	OMIM:602271
HP:0000925	Abnormality of the vertebral column	3418	IDH2	ORPHA:296
HP:0000925	Abnormality of the vertebral column	90993	CREB3L1	OMIM:616229
HP:0000925	Abnormality of the vertebral column	649	BMP1	OMIM:614856
HP:0000925	Abnormality of the vertebral column	10013	HDAC6	ORPHA:163966
HP:0000925	Abnormality of the vertebral column	10013	HDAC6	OMIM:300863
HP:0000925	Abnormality of the vertebral column	2879	GPX4	OMIM:250220
HP:0000925	Abnormality of the vertebral column	2879	GPX4	ORPHA:93317
HP:0000925	Abnormality of the vertebral column	6678	SPARC	OMIM:616507
HP:0000925	Abnormality of the vertebral column	8985	PLOD3	OMIM:612394
HP:0000925	Abnormality of the vertebral column	6424	SFRP4	OMIM:265900
HP:0000925	Abnormality of the vertebral column	29957	SLC25A24	OMIM:612289
HP:0000925	Abnormality of the vertebral column	202018	TAPT1	OMIM:616897
HP:0000925	Abnormality of the vertebral column	28957	MRPS28	OMIM:618958
HP:0000925	Abnormality of the vertebral column	11014	KDELR2	OMIM:619131
HP:0000925	Abnormality of the vertebral column	100	ADA	OMIM:102700
HP:0000925	Abnormality of the vertebral column	6137	RPL13	OMIM:618728
HP:0000925	Abnormality of the vertebral column	166929	SGMS2	OMIM:126550
HP:0000925	Abnormality of the vertebral column	26229	B3GAT3	OMIM:245600
HP:0000925	Abnormality of the vertebral column	375056	MIA3	OMIM:619269
HP:0000925	Abnormality of the vertebral column	54892	NCAPG2	OMIM:618460
HP:0000925	Abnormality of the vertebral column	85358	SHANK3	OMIM:606232
HP:0000925	Abnormality of the vertebral column	85358	SHANK3	ORPHA:48652
HP:0000925	Abnormality of the vertebral column	79783	SUGCT	ORPHA:35706
HP:0000925	Abnormality of the vertebral column	91179	SCARF2	OMIM:600920
HP:0000925	Abnormality of the vertebral column	4953	ODC1	ORPHA:544488
HP:0000925	Abnormality of the vertebral column	4297	KMT2A	OMIM:605130
HP:0000925	Abnormality of the vertebral column	4297	KMT2A	ORPHA:319182
HP:0000925	Abnormality of the vertebral column	2188	FANCF	OMIM:603467
HP:0000925	Abnormality of the vertebral column	1725	DHPS	OMIM:618480
HP:0000925	Abnormality of the vertebral column	56992	KIF15	ORPHA:261323
HP:0000925	Abnormality of the vertebral column	818	CAMK2G	OMIM:618522
HP:0000925	Abnormality of the vertebral column	3899	AFF3	OMIM:619297
HP:0000925	Abnormality of the vertebral column	54496	PRMT7	OMIM:617157
HP:0000925	Abnormality of the vertebral column	3209	HOXA13	ORPHA:2438
HP:0000925	Abnormality of the vertebral column	54539	NDUFB11	ORPHA:2556
HP:0000925	Abnormality of the vertebral column	1349	COX7B	ORPHA:2556
HP:0000925	Abnormality of the vertebral column	3052	HCCS	ORPHA:2556
HP:0000925	Abnormality of the vertebral column	5422	POLA1	OMIM:301030
HP:0000925	Abnormality of the vertebral column	9496	TBX4	ORPHA:261279
HP:0000925	Abnormality of the vertebral column	51305	KCNK9	ORPHA:166108
HP:0000925	Abnormality of the vertebral column	51305	KCNK9	OMIM:612292
HP:0000925	Abnormality of the vertebral column	3981	LIG4	ORPHA:235
HP:0000925	Abnormality of the vertebral column	54888	NSUN2	ORPHA:235
HP:0000925	Abnormality of the vertebral column	10664	CTCF	ORPHA:363611
HP:0000925	Abnormality of the vertebral column	10664	CTCF	OMIM:615502
HP:0000925	Abnormality of the vertebral column	56006	SMG9	OMIM:619995
HP:0000925	Abnormality of the vertebral column	51633	OTUD6B	OMIM:617452
HP:0000925	Abnormality of the vertebral column	51633	OTUD6B	ORPHA:505237
HP:0000925	Abnormality of the vertebral column	6134	RPL10	ORPHA:459070
HP:0000925	Abnormality of the vertebral column	286	ANK1	ORPHA:251066
HP:0000925	Abnormality of the vertebral column	8405	SPOP	OMIM:618828
HP:0000925	Abnormality of the vertebral column	8314	BAP1	OMIM:619762
HP:0000925	Abnormality of the vertebral column	374879	ZNF699	OMIM:619488
HP:0000925	Abnormality of the vertebral column	51715	RAB23	OMIM:201000
HP:0000925	Abnormality of the vertebral column	79971	WLS	OMIM:619648
HP:0000925	Abnormality of the vertebral column	6925	TCF4	OMIM:610954
HP:0000925	Abnormality of the vertebral column	3090	HIC1	ORPHA:531
HP:0000925	Abnormality of the vertebral column	5048	PAFAH1B1	ORPHA:531
HP:0000925	Abnormality of the vertebral column	7531	YWHAE	ORPHA:531
HP:0000925	Abnormality of the vertebral column	4123	MAN2C1	OMIM:619775
HP:0000925	Abnormality of the vertebral column	3977	LIFR	ORPHA:3206
HP:0000925	Abnormality of the vertebral column	57479	PRR12	OMIM:619539
HP:0000925	Abnormality of the vertebral column	5718	PSMD12	OMIM:617516
HP:0000925	Abnormality of the vertebral column	10225	CD96	ORPHA:1308
HP:0000925	Abnormality of the vertebral column	171023	ASXL1	OMIM:605039
HP:0000925	Abnormality of the vertebral column	26235	FBXL4	OMIM:615471
HP:0000925	Abnormality of the vertebral column	51399	TRAPPC4	OMIM:618741
HP:0000925	Abnormality of the vertebral column	8216	LZTR1	OMIM:616564
HP:0000925	Abnormality of the vertebral column	8216	LZTR1	ORPHA:648
HP:0000925	Abnormality of the vertebral column	4897	NRCAM	OMIM:619833
HP:0000925	Abnormality of the vertebral column	10159	ATP6AP2	ORPHA:93952
HP:0000925	Abnormality of the vertebral column	6687	SPG7	ORPHA:99013
HP:0000925	Abnormality of the vertebral column	6687	SPG7	OMIM:607259
HP:0000925	Abnormality of the vertebral column	9578	CDC42BPB	OMIM:619841
HP:0000925	Abnormality of the vertebral column	80816	ASXL3	OMIM:615485
HP:0000925	Abnormality of the vertebral column	80816	ASXL3	ORPHA:352577
HP:0000925	Abnormality of the vertebral column	23322	RPGRIP1L	ORPHA:220497
HP:0000925	Abnormality of the vertebral column	23322	RPGRIP1L	ORPHA:1454
HP:0000925	Abnormality of the vertebral column	23322	RPGRIP1L	OMIM:611560
HP:0000925	Abnormality of the vertebral column	4867	NPHP1	ORPHA:220497
HP:0000925	Abnormality of the vertebral column	166378	AFG2A	OMIM:616577
HP:0000925	Abnormality of the vertebral column	7532	YWHAG	OMIM:617665
HP:0000925	Abnormality of the vertebral column	84466	MEGF10	OMIM:614399
HP:0000925	Abnormality of the vertebral column	51112	TRAPPC12	OMIM:617669
HP:0000925	Abnormality of the vertebral column	51112	TRAPPC12	ORPHA:500144
HP:0000925	Abnormality of the vertebral column	55768	NGLY1	ORPHA:404454
HP:0000925	Abnormality of the vertebral column	55768	NGLY1	OMIM:615273
HP:0000925	Abnormality of the vertebral column	55154	MSTO1	OMIM:617675
HP:0000925	Abnormality of the vertebral column	55154	MSTO1	ORPHA:502423
HP:0000925	Abnormality of the vertebral column	54453	RIN2	OMIM:613075
HP:0000925	Abnormality of the vertebral column	54453	RIN2	ORPHA:217335
HP:0000925	Abnormality of the vertebral column	79029	AFG2B	OMIM:619616
HP:0000925	Abnormality of the vertebral column	4620	MYH2	OMIM:605637
HP:0000925	Abnormality of the vertebral column	5528	PPP2R5D	OMIM:616355
HP:0000925	Abnormality of the vertebral column	5528	PPP2R5D	ORPHA:457279
HP:0000925	Abnormality of the vertebral column	23007	PLCH1	ORPHA:93925
HP:0000925	Abnormality of the vertebral column	4747	NEFL	ORPHA:101085
HP:0000925	Abnormality of the vertebral column	4747	NEFL	OMIM:607684
HP:0000925	Abnormality of the vertebral column	4359	MPZ	ORPHA:101082
HP:0000925	Abnormality of the vertebral column	4359	MPZ	OMIM:618184
HP:0000925	Abnormality of the vertebral column	4359	MPZ	ORPHA:3115
HP:0000925	Abnormality of the vertebral column	4359	MPZ	OMIM:145900
HP:0000925	Abnormality of the vertebral column	79659	DYNC2H1	OMIM:613091
HP:0000925	Abnormality of the vertebral column	11285	B4GALT7	OMIM:130070
HP:0000925	Abnormality of the vertebral column	5518	PPP2R1A	OMIM:616362
HP:0000925	Abnormality of the vertebral column	5518	PPP2R1A	ORPHA:457284
HP:0000925	Abnormality of the vertebral column	5604	MAP2K1	OMIM:615279
HP:0000925	Abnormality of the vertebral column	5604	MAP2K1	ORPHA:1340
HP:0000925	Abnormality of the vertebral column	3098	HK1	OMIM:618547
HP:0000925	Abnormality of the vertebral column	3098	HK1	OMIM:605285
HP:0000925	Abnormality of the vertebral column	3098	HK1	ORPHA:99953
HP:0000925	Abnormality of the vertebral column	9091	PIGQ	OMIM:618548
HP:0000925	Abnormality of the vertebral column	79718	TBL1XR1	OMIM:602342
HP:0000925	Abnormality of the vertebral column	79718	TBL1XR1	ORPHA:487825
HP:0000925	Abnormality of the vertebral column	55210	ATAD3A	ORPHA:496790
HP:0000925	Abnormality of the vertebral column	55210	ATAD3A	OMIM:617183
HP:0000925	Abnormality of the vertebral column	5605	MAP2K2	OMIM:615280
HP:0000925	Abnormality of the vertebral column	5605	MAP2K2	ORPHA:1340
HP:0000925	Abnormality of the vertebral column	715	C1R	OMIM:130080
HP:0000925	Abnormality of the vertebral column	6305	SBF1	OMIM:615284
HP:0000925	Abnormality of the vertebral column	8818	DPM2	OMIM:615042
HP:0000925	Abnormality of the vertebral column	8818	DPM2	ORPHA:329178
HP:0000925	Abnormality of the vertebral column	83479	DDX59	ORPHA:2919
HP:0000925	Abnormality of the vertebral column	83479	DDX59	OMIM:174300
HP:0000925	Abnormality of the vertebral column	1742	DLG4	OMIM:618793
HP:0000925	Abnormality of the vertebral column	9772	TMEM94	OMIM:618316
HP:0000925	Abnormality of the vertebral column	5354	PLP1	OMIM:312080
HP:0000925	Abnormality of the vertebral column	23483	TGDS	OMIM:616145
HP:0000925	Abnormality of the vertebral column	23483	TGDS	ORPHA:1388
HP:0000925	Abnormality of the vertebral column	2395	FXN	OMIM:229300
HP:0000925	Abnormality of the vertebral column	2395	FXN	ORPHA:95
HP:0000925	Abnormality of the vertebral column	57679	ALS2	OMIM:205100
HP:0000925	Abnormality of the vertebral column	57679	ALS2	OMIM:607225
HP:0000925	Abnormality of the vertebral column	57679	ALS2	ORPHA:300605
HP:0000925	Abnormality of the vertebral column	26160	IFT172	OMIM:616394
HP:0000925	Abnormality of the vertebral column	58497	PRUNE1	OMIM:617481
HP:0000925	Abnormality of the vertebral column	58497	PRUNE1	ORPHA:544469
HP:0000925	Abnormality of the vertebral column	5881	RAC3	OMIM:618577
HP:0000925	Abnormality of the vertebral column	26173	INTS1	OMIM:618571
HP:0000925	Abnormality of the vertebral column	3508	IGHMBP2	OMIM:616155
HP:0000925	Abnormality of the vertebral column	55151	TMEM38B	OMIM:615066
HP:0000925	Abnormality of the vertebral column	2583	B4GALNT1	OMIM:609195
HP:0000925	Abnormality of the vertebral column	2583	B4GALNT1	ORPHA:101006
HP:0000925	Abnormality of the vertebral column	5426	POLE	OMIM:618336
HP:0000925	Abnormality of the vertebral column	5081	PAX7	OMIM:618578
HP:0000925	Abnormality of the vertebral column	51574	LARP7	OMIM:615071
HP:0000925	Abnormality of the vertebral column	51574	LARP7	ORPHA:319671
HP:0000925	Abnormality of the vertebral column	10059	DNM1L	ORPHA:330050
HP:0000925	Abnormality of the vertebral column	1499	CTNNB1	OMIM:615075
HP:0000925	Abnormality of the vertebral column	56896	DPYSL5	OMIM:619435
HP:0000925	Abnormality of the vertebral column	23516	SLC39A14	OMIM:617013
HP:0000925	Abnormality of the vertebral column	23516	SLC39A14	ORPHA:521406
HP:0000925	Abnormality of the vertebral column	8573	CASK	OMIM:300749
HP:0000925	Abnormality of the vertebral column	8573	CASK	ORPHA:163937
HP:0000925	Abnormality of the vertebral column	8573	CASK	OMIM:300422
HP:0000925	Abnormality of the vertebral column	5428	POLG	OMIM:258450
HP:0000925	Abnormality of the vertebral column	5428	POLG	OMIM:203700
HP:0000925	Abnormality of the vertebral column	128869	PIGU	OMIM:618590
HP:0000925	Abnormality of the vertebral column	2972	BRF1	ORPHA:444072
HP:0000925	Abnormality of the vertebral column	2972	BRF1	OMIM:616202
HP:0000925	Abnormality of the vertebral column	6567	SLC16A2	OMIM:300523
HP:0000925	Abnormality of the vertebral column	6492	SIM1	ORPHA:398079
HP:0000925	Abnormality of the vertebral column	112939	NACC1	ORPHA:500545
HP:0000925	Abnormality of the vertebral column	112939	NACC1	OMIM:617393
HP:0000925	Abnormality of the vertebral column	51114	ZDHHC9	ORPHA:776
HP:0000925	Abnormality of the vertebral column	427	ASAH1	OMIM:159950
HP:0000925	Abnormality of the vertebral column	427	ASAH1	ORPHA:2590
HP:0000925	Abnormality of the vertebral column	7337	UBE3A	ORPHA:98794
HP:0000925	Abnormality of the vertebral column	7337	UBE3A	OMIM:105830
HP:0000925	Abnormality of the vertebral column	4948	OCA2	ORPHA:98794
HP:0000925	Abnormality of the vertebral column	4948	OCA2	ORPHA:98754
HP:0000925	Abnormality of the vertebral column	4948	OCA2	ORPHA:177904
HP:0000925	Abnormality of the vertebral column	4948	OCA2	ORPHA:177901
HP:0000925	Abnormality of the vertebral column	23005	MAPKBP1	OMIM:617271
HP:0000925	Abnormality of the vertebral column	7084	TK2	ORPHA:254875
HP:0000925	Abnormality of the vertebral column	84340	GFM2	ORPHA:565624
HP:0000925	Abnormality of the vertebral column	84340	GFM2	OMIM:618397
HP:0000925	Abnormality of the vertebral column	6601	SMARCC2	OMIM:618362
HP:0000925	Abnormality of the vertebral column	6601	SMARCC2	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	3756	KCNH1	OMIM:135500
HP:0000925	Abnormality of the vertebral column	201163	FLCN	OMIM:610883
HP:0000925	Abnormality of the vertebral column	51608	GET4	OMIM:620200
HP:0000925	Abnormality of the vertebral column	1312	COMT	ORPHA:567
HP:0000925	Abnormality of the vertebral column	221037	JMJD1C	ORPHA:567
HP:0000925	Abnormality of the vertebral column	2812	GP1BB	ORPHA:567
HP:0000925	Abnormality of the vertebral column	6239	RREB1	ORPHA:567
HP:0000925	Abnormality of the vertebral column	7290	HIRA	ORPHA:567
HP:0000925	Abnormality of the vertebral column	9632	SEC24C	ORPHA:567
HP:0000925	Abnormality of the vertebral column	7353	UFD1	ORPHA:567
HP:0000925	Abnormality of the vertebral column	421	ARVCF	ORPHA:567
HP:0000925	Abnormality of the vertebral column	1760	DMPK	ORPHA:589821
HP:0000925	Abnormality of the vertebral column	11342	RNF13	OMIM:618379
HP:0000925	Abnormality of the vertebral column	11342	RNF13	ORPHA:544503
HP:0000925	Abnormality of the vertebral column	7317	UBA1	OMIM:301830
HP:0000925	Abnormality of the vertebral column	80821	DDHD1	ORPHA:101008
HP:0000925	Abnormality of the vertebral column	80821	DDHD1	OMIM:609340
HP:0000925	Abnormality of the vertebral column	6304	SATB1	OMIM:619229
HP:0000925	Abnormality of the vertebral column	7846	TUBA1A	ORPHA:994
HP:0000925	Abnormality of the vertebral column	4654	MYOD1	ORPHA:994
HP:0000925	Abnormality of the vertebral column	55975	KLHL7	OMIM:617055
HP:0000925	Abnormality of the vertebral column	54809	SAMD9	OMIM:617053
HP:0000925	Abnormality of the vertebral column	64840	PORCN	ORPHA:2092
HP:0000925	Abnormality of the vertebral column	64840	PORCN	OMIM:305600
HP:0000925	Abnormality of the vertebral column	94005	PIGS	OMIM:618143
HP:0000925	Abnormality of the vertebral column	92935	MARS2	ORPHA:314603
HP:0000925	Abnormality of the vertebral column	92935	MARS2	OMIM:611390
HP:0000925	Abnormality of the vertebral column	5781	PTPN11	ORPHA:500
HP:0000925	Abnormality of the vertebral column	5781	PTPN11	ORPHA:648
HP:0000925	Abnormality of the vertebral column	673	BRAF	ORPHA:500
HP:0000925	Abnormality of the vertebral column	673	BRAF	OMIM:613706
HP:0000925	Abnormality of the vertebral column	673	BRAF	OMIM:115150
HP:0000925	Abnormality of the vertebral column	673	BRAF	ORPHA:1340
HP:0000925	Abnormality of the vertebral column	5894	RAF1	ORPHA:500
HP:0000925	Abnormality of the vertebral column	5894	RAF1	ORPHA:648
HP:0000925	Abnormality of the vertebral column	11198	SUPT16H	OMIM:619480
HP:0000925	Abnormality of the vertebral column	9829	DNAJC6	ORPHA:391411
HP:0000925	Abnormality of the vertebral column	5420	PODXL	ORPHA:391411
HP:0000925	Abnormality of the vertebral column	8867	SYNJ1	ORPHA:391411
HP:0000925	Abnormality of the vertebral column	2887	GRB10	ORPHA:96182
HP:0000925	Abnormality of the vertebral column	1457	CSNK2A1	OMIM:617062
HP:0000925	Abnormality of the vertebral column	100147744	RNU7-1	OMIM:619487
HP:0000925	Abnormality of the vertebral column	100147744	RNU7-1	ORPHA:51
HP:0000925	Abnormality of the vertebral column	4617	MYF5	OMIM:618155
HP:0000925	Abnormality of the vertebral column	1654	DDX3X	OMIM:300958
HP:0000925	Abnormality of the vertebral column	1654	DDX3X	ORPHA:457260
HP:0000925	Abnormality of the vertebral column	93587	TRMT10A	ORPHA:391408
HP:0000925	Abnormality of the vertebral column	93587	TRMT10A	OMIM:616033
HP:0000925	Abnormality of the vertebral column	26278	SACS	OMIM:270550
HP:0000925	Abnormality of the vertebral column	6748	SSR4	ORPHA:370927
HP:0000925	Abnormality of the vertebral column	6748	SSR4	OMIM:300934
HP:0000925	Abnormality of the vertebral column	10084	PQBP1	OMIM:309500
HP:0000925	Abnormality of the vertebral column	2193	FARSA	OMIM:619013
HP:0000925	Abnormality of the vertebral column	10491	CRTAP	OMIM:610682
HP:0000925	Abnormality of the vertebral column	779	CACNA1S	OMIM:620246
HP:0000925	Abnormality of the vertebral column	203859	ANO5	ORPHA:53697
HP:0000925	Abnormality of the vertebral column	116150	NUS1	OMIM:617082
HP:0000925	Abnormality of the vertebral column	84842	HPDL	OMIM:619026
HP:0000925	Abnormality of the vertebral column	23443	SLC35A3	ORPHA:370943
HP:0000925	Abnormality of the vertebral column	23443	SLC35A3	OMIM:615553
HP:0000925	Abnormality of the vertebral column	2643	GCH1	OMIM:128230
HP:0000925	Abnormality of the vertebral column	2643	GCH1	ORPHA:98808
HP:0000925	Abnormality of the vertebral column	1183	CLCN4	OMIM:300114
HP:0000925	Abnormality of the vertebral column	1183	CLCN4	ORPHA:485350
HP:0000925	Abnormality of the vertebral column	80308	FLAD1	OMIM:255100
HP:0000925	Abnormality of the vertebral column	246243	RNASEH1	ORPHA:329336
HP:0000925	Abnormality of the vertebral column	7355	SLC35A2	ORPHA:356961
HP:0000925	Abnormality of the vertebral column	79581	SLC52A2	OMIM:614707
HP:0000925	Abnormality of the vertebral column	10093	ARPC4	OMIM:620141
HP:0000925	Abnormality of the vertebral column	51506	UFC1	OMIM:618076
HP:0000925	Abnormality of the vertebral column	4552	MTRR	ORPHA:2169
HP:0000925	Abnormality of the vertebral column	55780	ERMARD	ORPHA:75857
HP:0000925	Abnormality of the vertebral column	55780	ERMARD	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	25778	DSTYK	OMIM:270750
HP:0000925	Abnormality of the vertebral column	84992	PIGY	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	84720	PIGO	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	93210	PGAP3	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	284098	PIGW	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	27315	PGAP2	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	27315	PGAP2	OMIM:614207
HP:0000925	Abnormality of the vertebral column	55650	PIGV	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	9487	PIGL	ORPHA:247262
HP:0000925	Abnormality of the vertebral column	4001	LMNB1	OMIM:619179
HP:0000925	Abnormality of the vertebral column	5119	CHMP1A	OMIM:614961
HP:0000925	Abnormality of the vertebral column	23522	KAT6B	OMIM:606170
HP:0000925	Abnormality of the vertebral column	93627	TBCK	OMIM:616900
HP:0000925	Abnormality of the vertebral column	93627	TBCK	ORPHA:488632
HP:0000925	Abnormality of the vertebral column	5238	PGM3	OMIM:615816
HP:0000925	Abnormality of the vertebral column	10459	MAD2L2	ORPHA:84
HP:0000925	Abnormality of the vertebral column	7516	XRCC2	ORPHA:84
HP:0000925	Abnormality of the vertebral column	29089	UBE2T	ORPHA:84
HP:0000925	Abnormality of the vertebral column	55120	FANCL	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2177	FANCD2	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2175	FANCA	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2178	FANCE	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2189	FANCG	ORPHA:84
HP:0000925	Abnormality of the vertebral column	5889	RAD51C	ORPHA:84
HP:0000925	Abnormality of the vertebral column	55159	RFWD3	ORPHA:84
HP:0000925	Abnormality of the vertebral column	83990	BRIP1	ORPHA:84
HP:0000925	Abnormality of the vertebral column	57697	FANCM	ORPHA:84
HP:0000925	Abnormality of the vertebral column	84464	SLX4	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2072	ERCC4	ORPHA:84
HP:0000925	Abnormality of the vertebral column	2072	ERCC4	ORPHA:90321
HP:0000925	Abnormality of the vertebral column	2072	ERCC4	OMIM:610965
HP:0000925	Abnormality of the vertebral column	2072	ERCC4	OMIM:278760
HP:0000925	Abnormality of the vertebral column	823	CAPN1	OMIM:616907
HP:0000925	Abnormality of the vertebral column	823	CAPN1	ORPHA:488594
HP:0000925	Abnormality of the vertebral column	222663	SCUBE3	OMIM:619184
HP:0000925	Abnormality of the vertebral column	7274	TTPA	ORPHA:96
HP:0000925	Abnormality of the vertebral column	9839	ZEB2	ORPHA:261552
HP:0000925	Abnormality of the vertebral column	9839	ZEB2	ORPHA:261537
HP:0000925	Abnormality of the vertebral column	1641	DCX	ORPHA:2148
HP:0000925	Abnormality of the vertebral column	3192	HNRNPU	ORPHA:238769
HP:0000925	Abnormality of the vertebral column	6135	RPL11	OMIM:612562
HP:0000925	Abnormality of the vertebral column	10056	FARSB	OMIM:613658
HP:0000925	Abnormality of the vertebral column	4094	MAF	ORPHA:1272
HP:0000925	Abnormality of the vertebral column	23261	CAMTA1	OMIM:614756
HP:0000925	Abnormality of the vertebral column	2255	FGF10	ORPHA:2363
HP:0000925	Abnormality of the vertebral column	6638	SNRPN	ORPHA:98754
HP:0000925	Abnormality of the vertebral column	6638	SNRPN	ORPHA:177904
HP:0000925	Abnormality of the vertebral column	6638	SNRPN	ORPHA:177901
HP:0000925	Abnormality of the vertebral column	6638	SNRPN	ORPHA:177907
HP:0000925	Abnormality of the vertebral column	6638	SNRPN	OMIM:105830
HP:0000925	Abnormality of the vertebral column	4692	NDN	ORPHA:98754
HP:0000925	Abnormality of the vertebral column	4692	NDN	ORPHA:177904
HP:0000925	Abnormality of the vertebral column	4692	NDN	ORPHA:177901
HP:0000925	Abnormality of the vertebral column	3481	IGF2	ORPHA:2128
HP:0000925	Abnormality of the vertebral column	10984	KCNQ1OT1	ORPHA:2128
HP:0000925	Abnormality of the vertebral column	283120	H19	ORPHA:2128
HP:0000925	Abnormality of the vertebral column	55275	VPS53	OMIM:615851
HP:0000925	Abnormality of the vertebral column	545	ATR	ORPHA:808
HP:0000925	Abnormality of the vertebral column	545	ATR	OMIM:210600
HP:0000925	Abnormality of the vertebral column	1062	CENPE	ORPHA:808
HP:0000925	Abnormality of the vertebral column	5116	PCNT	ORPHA:808
HP:0000925	Abnormality of the vertebral column	5116	PCNT	ORPHA:2637
HP:0000925	Abnormality of the vertebral column	79902	NUP85	ORPHA:808
HP:0000925	Abnormality of the vertebral column	84126	ATRIP	ORPHA:808
HP:0000925	Abnormality of the vertebral column	55835	CENPJ	ORPHA:808
HP:0000925	Abnormality of the vertebral column	10293	TRAIP	ORPHA:808
HP:0000925	Abnormality of the vertebral column	22995	CEP152	ORPHA:808
HP:0000925	Abnormality of the vertebral column	22995	CEP152	OMIM:613823
HP:0000925	Abnormality of the vertebral column	147372	CCBE1	OMIM:235510
HP:0000925	Abnormality of the vertebral column	8726	EED	ORPHA:3447
HP:0000925	Abnormality of the vertebral column	8726	EED	OMIM:617561
HP:0000925	Abnormality of the vertebral column	23512	SUZ12	ORPHA:3447
HP:0000925	Abnormality of the vertebral column	22907	DHX30	OMIM:617804
HP:0000925	Abnormality of the vertebral column	57165	GJC2	OMIM:613206
HP:0000925	Abnormality of the vertebral column	3798	KIF5A	OMIM:604187
HP:0000925	Abnormality of the vertebral column	3798	KIF5A	ORPHA:100991
HP:0000925	Abnormality of the vertebral column	10535	RNASEH2A	ORPHA:51
HP:0000925	Abnormality of the vertebral column	84153	RNASEH2C	ORPHA:51
HP:0000925	Abnormality of the vertebral column	25939	SAMHD1	ORPHA:51
HP:0000925	Abnormality of the vertebral column	79621	RNASEH2B	ORPHA:51
HP:0000925	Abnormality of the vertebral column	103	ADAR	ORPHA:51
HP:0000925	Abnormality of the vertebral column	11277	TREX1	ORPHA:51
HP:0000925	Abnormality of the vertebral column	134353	LSM11	ORPHA:51
HP:0000925	Abnormality of the vertebral column	64135	IFIH1	ORPHA:51
HP:0000925	Abnormality of the vertebral column	64135	IFIH1	OMIM:182250
HP:0000925	Abnormality of the vertebral column	10075	HUWE1	OMIM:309590
HP:0000925	Abnormality of the vertebral column	8518	ELP1	OMIM:223900
HP:0000925	Abnormality of the vertebral column	8518	ELP1	ORPHA:1764
HP:0000925	Abnormality of the vertebral column	1788	DNMT3A	OMIM:615879
HP:0000925	Abnormality of the vertebral column	26115	TANC2	OMIM:618906
HP:0000925	Abnormality of the vertebral column	11235	PDCD10	ORPHA:221061
HP:0000925	Abnormality of the vertebral column	83605	CCM2	ORPHA:221061
HP:0000925	Abnormality of the vertebral column	889	KRIT1	ORPHA:221061
HP:0000925	Abnormality of the vertebral column	6652	SORD	OMIM:618912
HP:0000925	Abnormality of the vertebral column	998	CDC42	OMIM:616737
HP:0000925	Abnormality of the vertebral column	998	CDC42	ORPHA:487796
HP:0000925	Abnormality of the vertebral column	23097	CDK19	OMIM:618916
HP:0000925	Abnormality of the vertebral column	2332	FMR1	ORPHA:449291
HP:0000925	Abnormality of the vertebral column	2332	FMR1	OMIM:300624
HP:0000925	Abnormality of the vertebral column	6774	STAT3	ORPHA:2314
HP:0000925	Abnormality of the vertebral column	6774	STAT3	OMIM:147060
HP:0000925	Abnormality of the vertebral column	6597	SMARCA4	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	6597	SMARCA4	OMIM:614609
HP:0000925	Abnormality of the vertebral column	6659	SOX4	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	8289	ARID1A	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	5977	DPF2	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	6602	SMARCD1	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	196528	ARID2	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	6664	SOX11	ORPHA:1465
HP:0000925	Abnormality of the vertebral column	10616	RBCK1	OMIM:615895
HP:0000925	Abnormality of the vertebral column	91137	SLC25A46	OMIM:616505
HP:0000925	Abnormality of the vertebral column	9378	NRXN1	OMIM:614325
HP:0000925	Abnormality of the vertebral column	3759	KCNJ2	OMIM:170390
HP:0000925	Abnormality of the vertebral column	3759	KCNJ2	ORPHA:37553
HP:0000925	Abnormality of the vertebral column	51524	TMEM138	ORPHA:2318
HP:0000925	Abnormality of the vertebral column	23090	ZNF423	ORPHA:2318
HP:0000925	Abnormality of the vertebral column	80184	CEP290	ORPHA:2318
HP:0000925	Abnormality of the vertebral column	51259	TMEM216	ORPHA:2318
HP:0000925	Abnormality of the vertebral column	57545	CC2D2A	ORPHA:2318
HP:0000925	Abnormality of the vertebral column	57545	CC2D2A	ORPHA:1454
HP:0000925	Abnormality of the vertebral column	57545	CC2D2A	OMIM:612285
HP:0000925	Abnormality of the vertebral column	3248	HPGD	ORPHA:2796
HP:0000925	Abnormality of the vertebral column	6578	SLCO2A1	ORPHA:2796
HP:0000925	Abnormality of the vertebral column	79576	NKAP	OMIM:301039
HP:0000925	Abnormality of the vertebral column	23152	CIC	OMIM:617600
HP:0000925	Abnormality of the vertebral column	80152	CENPT	OMIM:618702
HP:0000925	Abnormality of the vertebral column	3913	LAMB2	ORPHA:98915
HP:0000925	Abnormality of the vertebral column	8913	CACNA1G	ORPHA:458803
HP:0000925	Abnormality of the vertebral column	84823	LMNB2	OMIM:616540
HP:0000925	Abnormality of the vertebral column	10274	STAG1	OMIM:617635
HP:0000925	Abnormality of the vertebral column	10274	STAG1	ORPHA:502434
HP:0000925	Abnormality of the vertebral column	5879	RAC1	ORPHA:500159
HP:0000925	Abnormality of the vertebral column	5879	RAC1	OMIM:617751
HP:0000925	Abnormality of the vertebral column	85378	TUBGCP6	ORPHA:2518
HP:0000925	Abnormality of the vertebral column	27229	TUBGCP4	ORPHA:2518
HP:0000925	Abnormality of the vertebral column	71	ACTG1	ORPHA:2995
HP:0000925	Abnormality of the vertebral column	8139	GAN	OMIM:256850
HP:0000925	Abnormality of the vertebral column	8139	GAN	ORPHA:643
HP:0000925	Abnormality of the vertebral column	87178	PNPT1	OMIM:608703
HP:0000925	Abnormality of the vertebral column	87178	PNPT1	ORPHA:101111
HP:0000925	Abnormality of the vertebral column	1804	DPP6	OMIM:616311
HP:0000925	Abnormality of the vertebral column	80169	CTC1	OMIM:612199
HP:0000925	Abnormality of the vertebral column	80169	CTC1	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	7545	ZIC1	OMIM:618736
HP:0000925	Abnormality of the vertebral column	7545	ZIC1	OMIM:616602
HP:0000925	Abnormality of the vertebral column	79875	THSD4	OMIM:619825
HP:0000925	Abnormality of the vertebral column	170302	ARX	ORPHA:2508
HP:0000925	Abnormality of the vertebral column	170302	ARX	OMIM:300004
HP:0000925	Abnormality of the vertebral column	3762	KCNJ5	ORPHA:37553
HP:0000925	Abnormality of the vertebral column	1281	COL3A1	ORPHA:2500
HP:0000925	Abnormality of the vertebral column	9853	RUSC2	OMIM:617773
HP:0000925	Abnormality of the vertebral column	22880	MORC2	OMIM:616688
HP:0000925	Abnormality of the vertebral column	22880	MORC2	OMIM:619090
HP:0000925	Abnormality of the vertebral column	1947	EFNB1	ORPHA:1520
HP:0000925	Abnormality of the vertebral column	1947	EFNB1	OMIM:304110
HP:0000925	Abnormality of the vertebral column	51126	NAA20	OMIM:619717
HP:0000925	Abnormality of the vertebral column	4047	LSS	ORPHA:2850
HP:0000925	Abnormality of the vertebral column	197	AHSG	ORPHA:2850
HP:0000925	Abnormality of the vertebral column	3694	ITGB6	ORPHA:2850
HP:0000925	Abnormality of the vertebral column	9692	PRORP	OMIM:619737
HP:0000925	Abnormality of the vertebral column	7920	ABHD16A	OMIM:619735
HP:0000925	Abnormality of the vertebral column	8560	DEGS1	OMIM:618404
HP:0000925	Abnormality of the vertebral column	23761	PISD	OMIM:618889
HP:0000925	Abnormality of the vertebral column	1289	COL5A1	ORPHA:287
HP:0000925	Abnormality of the vertebral column	1289	COL5A1	OMIM:619329
HP:0000925	Abnormality of the vertebral column	1290	COL5A2	ORPHA:287
HP:0000925	Abnormality of the vertebral column	1656	DDX6	OMIM:618653
HP:0000925	Abnormality of the vertebral column	1501	CTNND2	ORPHA:281
HP:0000925	Abnormality of the vertebral column	9037	SEMA5A	ORPHA:281
HP:0000925	Abnormality of the vertebral column	88	ACTN2	OMIM:618654
HP:0000925	Abnormality of the vertebral column	57178	ZMIZ1	OMIM:618659
HP:0000925	Abnormality of the vertebral column	80208	SPG11	ORPHA:2822
HP:0000925	Abnormality of the vertebral column	80208	SPG11	ORPHA:300605
HP:0000925	Abnormality of the vertebral column	55012	PPP2R3C	OMIM:618419
HP:0000925	Abnormality of the vertebral column	54840	APTX	OMIM:208920
HP:0000925	Abnormality of the vertebral column	26057	ANKRD17	OMIM:619504
HP:0000925	Abnormality of the vertebral column	284439	SLC25A42	OMIM:618416
HP:0000925	Abnormality of the vertebral column	51604	PIGT	OMIM:615398
HP:0000925	Abnormality of the vertebral column	51604	PIGT	ORPHA:369837
HP:0000925	Abnormality of the vertebral column	84504	NKX6-2	ORPHA:527497
HP:0000925	Abnormality of the vertebral column	9453	GGPS1	OMIM:619518
HP:0000925	Abnormality of the vertebral column	54902	TTC19	OMIM:615157
HP:0000925	Abnormality of the vertebral column	57863	CADM3	OMIM:619519
HP:0000925	Abnormality of the vertebral column	8898	MTMR2	OMIM:601382
HP:0000925	Abnormality of the vertebral column	7750	ZMYM2	OMIM:619522
HP:0000925	Abnormality of the vertebral column	6942	TCF20	OMIM:618430
HP:0000925	Abnormality of the vertebral column	22	ABCB7	ORPHA:2802
HP:0000925	Abnormality of the vertebral column	2542	SLC37A4	OMIM:619525
HP:0000925	Abnormality of the vertebral column	9562	MINPP1	OMIM:619527
HP:0000925	Abnormality of the vertebral column	11107	PRDM5	ORPHA:90354
HP:0000925	Abnormality of the vertebral column	54941	RNF125	OMIM:616260
HP:0000925	Abnormality of the vertebral column	1107	CHD3	OMIM:618205
HP:0000925	Abnormality of the vertebral column	51062	ATL1	OMIM:182600
HP:0000925	Abnormality of the vertebral column	29929	ALG6	ORPHA:79320
HP:0000925	Abnormality of the vertebral column	6595	SMARCA2	OMIM:601358
HP:0000925	Abnormality of the vertebral column	6595	SMARCA2	ORPHA:3051
HP:0000925	Abnormality of the vertebral column	6595	SMARCA2	OMIM:619293
HP:0000925	Abnormality of the vertebral column	1749	DLX5	OMIM:220600
HP:0000925	Abnormality of the vertebral column	8295	TRRAP	OMIM:618454
HP:0000925	Abnormality of the vertebral column	8621	CDK13	OMIM:617360
HP:0000925	Abnormality of the vertebral column	51117	COQ4	OMIM:616276
HP:0000925	Abnormality of the vertebral column	3763	KCNJ6	OMIM:614098
HP:0000925	Abnormality of the vertebral column	3763	KCNJ6	ORPHA:435628
HP:0000925	Abnormality of the vertebral column	5587	PRKD1	OMIM:617364
HP:0000925	Abnormality of the vertebral column	29968	PSAT1	OMIM:616038
HP:0000925	Abnormality of the vertebral column	6654	SOS1	OMIM:610733
HP:0000925	Abnormality of the vertebral column	6654	SOS1	ORPHA:648
HP:0000925	Abnormality of the vertebral column	5277	PIGA	OMIM:301072
HP:0000925	Abnormality of the vertebral column	8905	AP1S2	OMIM:304340
HP:0000925	Abnormality of the vertebral column	8905	AP1S2	ORPHA:85335
HP:0000925	Abnormality of the vertebral column	6323	SCN1A	OMIM:619317
HP:0000925	Abnormality of the vertebral column	203547	VMA21	OMIM:310440
HP:0000925	Abnormality of the vertebral column	79868	ALG13	OMIM:300884
HP:0000925	Abnormality of the vertebral column	29998	BICRA	OMIM:619325
HP:0000925	Abnormality of the vertebral column	23586	RIGI	OMIM:616298
HP:0000925	Abnormality of the vertebral column	79133	NDUFAF5	OMIM:618238
HP:0000925	Abnormality of the vertebral column	137682	NDUFAF6	OMIM:618239
HP:0000925	Abnormality of the vertebral column	6904	TBCD	ORPHA:496641
HP:0000925	Abnormality of the vertebral column	6904	TBCD	OMIM:617193
HP:0000925	Abnormality of the vertebral column	55967	NDUFA12	OMIM:618244
HP:0000925	Abnormality of the vertebral column	56915	EXOSC5	OMIM:619576
HP:0000925	Abnormality of the vertebral column	55572	FOXRED1	OMIM:618241
HP:0000925	Abnormality of the vertebral column	9719	ADAMTSL2	ORPHA:1901
HP:0000925	Abnormality of the vertebral column	9509	ADAMTS2	ORPHA:1901
HP:0000925	Abnormality of the vertebral column	8091	HMGA2	ORPHA:94063
HP:0000925	Abnormality of the vertebral column	1822	ATN1	OMIM:618494
HP:0000925	Abnormality of the vertebral column	4015	LOX	OMIM:617168
HP:0000925	Abnormality of the vertebral column	4015	LOX	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	84668	HYCC1	OMIM:610532
HP:0000925	Abnormality of the vertebral column	8425	LTBP4	ORPHA:98896
HP:0000925	Abnormality of the vertebral column	80185	TTI2	ORPHA:391307
HP:0000925	Abnormality of the vertebral column	57003	CCDC47	OMIM:618268
HP:0000925	Abnormality of the vertebral column	716	C1S	OMIM:617174
HP:0000925	Abnormality of the vertebral column	29895	MYL11	OMIM:619110
HP:0000925	Abnormality of the vertebral column	5457	POU4F1	OMIM:619352
HP:0000925	Abnormality of the vertebral column	35	ACADS	OMIM:201470
HP:0000925	Abnormality of the vertebral column	2776	GNAQ	ORPHA:624
HP:0000925	Abnormality of the vertebral column	79809	TTC21B	OMIM:613819
HP:0000925	Abnormality of the vertebral column	2571	GAD1	OMIM:619124
HP:0000925	Abnormality of the vertebral column	90522	YIF1B	OMIM:619125
HP:0000925	Abnormality of the vertebral column	440138	ALG11	ORPHA:280071
HP:0000925	Abnormality of the vertebral column	6472	SHMT2	OMIM:619121
HP:0000925	Abnormality of the vertebral column	5080	PAX6	ORPHA:893
HP:0000925	Abnormality of the vertebral column	627	BDNF	ORPHA:893
HP:0000925	Abnormality of the vertebral column	7490	WT1	ORPHA:893
HP:0000925	Abnormality of the vertebral column	867	CBL	ORPHA:648
HP:0000925	Abnormality of the vertebral column	6016	RIT1	ORPHA:648
HP:0000925	Abnormality of the vertebral column	6237	RRAS	ORPHA:648
HP:0000925	Abnormality of the vertebral column	22808	MRAS	ORPHA:648
HP:0000925	Abnormality of the vertebral column	6655	SOS2	ORPHA:648
HP:0000925	Abnormality of the vertebral column	5922	RASA2	ORPHA:648
HP:0000925	Abnormality of the vertebral column	4693	NDP	ORPHA:649
HP:0000925	Abnormality of the vertebral column	55074	OXR1	OMIM:213000
HP:0000925	Abnormality of the vertebral column	5076	PAX2	OMIM:120330
HP:0000925	Abnormality of the vertebral column	5376	PMP22	ORPHA:640
HP:0000925	Abnormality of the vertebral column	5376	PMP22	ORPHA:3115
HP:0000925	Abnormality of the vertebral column	5376	PMP22	OMIM:145900
HP:0000925	Abnormality of the vertebral column	129285	PPP1R21	OMIM:619383
HP:0000925	Abnormality of the vertebral column	221692	PHACTR1	OMIM:618298
HP:0000925	Abnormality of the vertebral column	161742	SPRED1	ORPHA:137605
HP:0000925	Abnormality of the vertebral column	121340	SP7	OMIM:613849
HP:0000925	Abnormality of the vertebral column	23769	FLRT1	ORPHA:320406
HP:0000925	Abnormality of the vertebral column	1119	CHKA	OMIM:620023
HP:0000925	Abnormality of the vertebral column	118987	PDZD8	OMIM:620021
HP:0000925	Abnormality of the vertebral column	658	BMPR1B	ORPHA:93388
HP:0000925	Abnormality of the vertebral column	1351	COX8A	OMIM:619059
HP:0000925	Abnormality of the vertebral column	100131801	PET100	OMIM:619055
HP:0000925	Abnormality of the vertebral column	374393	FAM111B	OMIM:615704
HP:0000925	Abnormality of the vertebral column	121512	FGD4	OMIM:609311
HP:0000925	Abnormality of the vertebral column	375	ARF1	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	4131	MAP1B	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	23327	NEDD4L	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	160418	TMTC3	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	10564	ARFGEF2	ORPHA:98892
HP:0000925	Abnormality of the vertebral column	1267	CNP	OMIM:619071
HP:0000925	Abnormality of the vertebral column	285175	UNC80	OMIM:616801
HP:0000925	Abnormality of the vertebral column	285175	UNC80	ORPHA:371364
HP:0000925	Abnormality of the vertebral column	81031	SLC2A10	ORPHA:3342
HP:0000925	Abnormality of the vertebral column	81031	SLC2A10	OMIM:208050
HP:0000925	Abnormality of the vertebral column	9990	SLC12A6	OMIM:620068
HP:0000925	Abnormality of the vertebral column	9990	SLC12A6	OMIM:218000
HP:0000925	Abnormality of the vertebral column	2521	FUS	ORPHA:300605
HP:0000925	Abnormality of the vertebral column	10280	SIGMAR1	ORPHA:300605
HP:0000925	Abnormality of the vertebral column	10558	SPTLC1	ORPHA:300605
HP:0000925	Abnormality of the vertebral column	23065	EMC1	ORPHA:480898
HP:0000925	Abnormality of the vertebral column	23065	EMC1	OMIM:616875
HP:0000925	Abnormality of the vertebral column	3187	HNRNPH1	OMIM:620083
HP:0000925	Abnormality of the vertebral column	55681	SCYL2	ORPHA:1143
HP:0000925	Abnormality of the vertebral column	84570	COL25A1	ORPHA:1143
HP:0000925	Abnormality of the vertebral column	57222	ERGIC1	ORPHA:1143
HP:0000925	Abnormality of the vertebral column	2688	GH1	OMIM:173100
HP:0000925	Abnormality of the vertebral column	81846	SBF2	ORPHA:99956
HP:0000925	Abnormality of the vertebral column	26353	HSPB8	OMIM:608673
HP:0000925	Abnormality of the vertebral column	3329	HSPD1	ORPHA:100994
HP:0000925	Abnormality of the vertebral column	2702	GJA5	OMIM:612474
HP:0000925	Abnormality of the vertebral column	2703	GJA8	OMIM:612474
HP:0000925	Abnormality of the vertebral column	57716	PRX	OMIM:614895
HP:0000925	Abnormality of the vertebral column	57716	PRX	OMIM:145900
HP:0000925	Abnormality of the vertebral column	55690	PACS1	ORPHA:329224
HP:0000925	Abnormality of the vertebral column	23064	SETX	OMIM:606002
HP:0000925	Abnormality of the vertebral column	1959	EGR2	OMIM:145900
HP:0000925	Abnormality of the vertebral column	3720	JARID2	OMIM:620098
HP:0000925	Abnormality of the vertebral column	9420	CYP7B1	ORPHA:100986
HP:0000925	Abnormality of the vertebral column	9420	CYP7B1	OMIM:270800
HP:0000925	Abnormality of the vertebral column	9780	PIEZO1	OMIM:616843
HP:0000925	Abnormality of the vertebral column	3736	KCNA1	ORPHA:37612
HP:0000925	Abnormality of the vertebral column	101929726	MYMX	ORPHA:1358
HP:0000925	Abnormality of the vertebral column	101929726	MYMX	OMIM:619941
HP:0000925	Abnormality of the vertebral column	2186	BPTF	ORPHA:529962
HP:0000925	Abnormality of the vertebral column	84342	COG8	OMIM:611182
HP:0000925	Abnormality of the vertebral column	89874	SLC25A21	OMIM:618811
HP:0000925	Abnormality of the vertebral column	4929	NR4A2	ORPHA:98808
HP:0000925	Abnormality of the vertebral column	3615	IMPDH2	ORPHA:98808
HP:0000925	Abnormality of the vertebral column	490	ATP2B1	OMIM:619910
HP:0000925	Abnormality of the vertebral column	2670	GFAP	ORPHA:363722
HP:0000925	Abnormality of the vertebral column	2670	GFAP	ORPHA:363717
HP:0000925	Abnormality of the vertebral column	54870	QRICH1	OMIM:617982
HP:0000925	Abnormality of the vertebral column	3295	HSD17B4	OMIM:233400
HP:0000925	Abnormality of the vertebral column	8241	RBM10	ORPHA:2886
HP:0000925	Abnormality of the vertebral column	2767	GNA11	ORPHA:1556
HP:0000925	Abnormality of the vertebral column	151188	ARL6IP6	ORPHA:1556
HP:0000925	Abnormality of the vertebral column	6529	SLC6A1	OMIM:616421
HP:0000925	Abnormality of the vertebral column	3664	IRF6	ORPHA:1300
HP:0000925	Abnormality of the vertebral column	8815	BANF1	OMIM:614008
HP:0000925	Abnormality of the vertebral column	57731	SPTBN4	OMIM:617519
HP:0000925	Abnormality of the vertebral column	4848	CNOT2	OMIM:618608
HP:0000925	Abnormality of the vertebral column	51733	UPB1	OMIM:613161
HP:0000925	Abnormality of the vertebral column	2902	GRIN1	OMIM:614254
HP:0000925	Abnormality of the vertebral column	26277	TINF2	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	55651	NHP2	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	79650	USB1	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	55135	WRAP53	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	51750	RTEL1	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	4869	NPM1	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	7012	TERC	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	55505	NOP10	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	5073	PARN	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	1736	DKC1	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	7298	TYMS	ORPHA:1775
HP:0000925	Abnormality of the vertebral column	6736	SRY	ORPHA:1772
HP:0000925	Abnormality of the vertebral column	55753	OGDHL	OMIM:619701
HP:0000925	Abnormality of the vertebral column	9570	GOSR2	OMIM:614018
HP:0000925	Abnormality of the vertebral column	4629	MYH11	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	59	ACTA2	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	5592	PRKG1	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	2301	FOXE3	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	4144	MAT2A	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	23493	HEY2	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	8076	MFAP5	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	4638	MYLK	ORPHA:91387
HP:0000925	Abnormality of the vertebral column	6834	SURF1	OMIM:616684
HP:0000925	Abnormality of the vertebral column	11284	PNKP	ORPHA:459033
HP:0000925	Abnormality of the vertebral column	3008	H1-4	OMIM:617537
HP:0000925	Abnormality of the vertebral column	56704	JPH1	OMIM:607831
HP:0000925	Abnormality of the vertebral column	65993	MRPS34	OMIM:617664
HP:0000925	Abnormality of the vertebral column	3149	HMGB3	OMIM:300915
HP:0000925	Abnormality of the vertebral column	23184	MESD	OMIM:618644
HP:0000925	Abnormality of the vertebral column	55858	TMEM165	OMIM:614727
HP:0000925	Abnormality of the vertebral column	1193	CLIC2	ORPHA:324410
HP:0000925	Abnormality of the vertebral column	1193	CLIC2	OMIM:300886
HP:0000925	Abnormality of the vertebral column	4598	MVK	OMIM:610377
HP:0000925	Abnormality of the vertebral column	55131	RBM28	ORPHA:157954
HP:0000925	Abnormality of the vertebral column	55131	RBM28	OMIM:612079
HP:0000925	Abnormality of the vertebral column	9255	AIMP1	OMIM:260600
HP:0000925	Abnormality of the vertebral column	6506	SLC1A2	OMIM:617105
HP:0000925	Abnormality of the vertebral column	10667	FARS2	ORPHA:466722
HP:0000925	Abnormality of the vertebral column	10430	TMEM147	OMIM:620075
HP:0000925	Abnormality of the vertebral column	9147	NEMF	OMIM:619099
HP:0000925	Abnormality of the vertebral column	10397	NDRG1	ORPHA:99950
HP:0000925	Abnormality of the vertebral column	10397	NDRG1	OMIM:601455
HP:0000925	Abnormality of the vertebral column	9894	TELO2	OMIM:616954
HP:0000925	Abnormality of the vertebral column	9894	TELO2	ORPHA:488642
HP:0000925	Abnormality of the vertebral column	2744	GLS	OMIM:618339
HP:0000925	Abnormality of the vertebral column	23111	SPART	OMIM:275900
HP:0000925	Abnormality of the vertebral column	4722	NDUFS3	OMIM:618230
HP:0000925	Abnormality of the vertebral column	2530	FUT8	OMIM:618005
HP:0000925	Abnormality of the vertebral column	7965	AIMP2	OMIM:618006
HP:0000925	Abnormality of the vertebral column	4547	MTTP	ORPHA:14
HP:0000925	Abnormality of the vertebral column	84896	ATAD1	OMIM:618011
HP:0000925	Abnormality of the vertebral column	729920	CRPPA	ORPHA:370980
HP:0000925	Abnormality of the vertebral column	4659	PPP1R12A	OMIM:618820
HP:0000925	Abnormality of the vertebral column	10382	TUBB4A	ORPHA:98805
HP:0000925	Abnormality of the vertebral column	56270	WDR45B	OMIM:617977
HP:0000925	Abnormality of the vertebral column	55717	WDR11	OMIM:620237
HP:0000925	Abnormality of the vertebral column	4137	MAPT	OMIM:260540
HP:0000925	Abnormality of the vertebral column	523	ATP6V1A	OMIM:617403
HP:0000925	Abnormality of the vertebral column	529	ATP6V1E1	OMIM:617402
HP:0000925	Abnormality of the vertebral column	26123	TCTN3	OMIM:614815
HP:0000925	Abnormality of the vertebral column	64374	SIL1	OMIM:248800
HP:0000925	Abnormality of the vertebral column	875	CBS	ORPHA:394
HP:0000925	Abnormality of the vertebral column	8450	CUL4B	OMIM:300354
HP:0000925	Abnormality of the vertebral column	8450	CUL4B	ORPHA:85293
HP:0000925	Abnormality of the vertebral column	8294	H4C9	OMIM:619951
HP:0000925	Abnormality of the vertebral column	9871	SEC24D	ORPHA:2050
HP:0000925	Abnormality of the vertebral column	9871	SEC24D	OMIM:616294
HP:0000925	Abnormality of the vertebral column	5034	P4HB	ORPHA:2050
HP:0000925	Abnormality of the vertebral column	1161	ERCC8	ORPHA:90324
HP:0000925	Abnormality of the vertebral column	1161	ERCC8	ORPHA:90322
HP:0000925	Abnormality of the vertebral column	1161	ERCC8	OMIM:216400
HP:0000925	Abnormality of the vertebral column	2074	ERCC6	ORPHA:90324
HP:0000925	Abnormality of the vertebral column	2074	ERCC6	ORPHA:90322
HP:0000925	Abnormality of the vertebral column	2074	ERCC6	OMIM:133540
HP:0000925	Abnormality of the vertebral column	6938	TCF12	OMIM:619718
HP:0000925	Abnormality of the vertebral column	81857	MED25	OMIM:616449
HP:0000925	Abnormality of the vertebral column	81857	MED25	ORPHA:464738
HP:0000925	Abnormality of the vertebral column	538	ATP7A	OMIM:304150
HP:0000925	Abnormality of the vertebral column	538	ATP7A	ORPHA:198
HP:0000925	Abnormality of the vertebral column	2067	ERCC1	ORPHA:90322
HP:0000925	Abnormality of the vertebral column	55209	SETD5	ORPHA:404440
HP:0000925	Abnormality of the vertebral column	55209	SETD5	OMIM:615761
HP:0000925	Abnormality of the vertebral column	6840	SVIL	OMIM:619040
HP:0000925	Abnormality of the vertebral column	5631	PRPS1	ORPHA:99014
HP:0000925	Abnormality of the vertebral column	267010	RNU12	OMIM:603116
HP:0000925	Abnormality of the vertebral column	58	ACTA1	ORPHA:171436
HP:0000925	Abnormality of the vertebral column	4703	NEB	ORPHA:171436
HP:0000925	Abnormality of the vertebral column	10324	KLHL41	ORPHA:171436
HP:0000925	Abnormality of the vertebral column	56203	LMOD3	ORPHA:171436
HP:0000925	Abnormality of the vertebral column	50940	PDE11A	OMIM:610475
HP:0000925	Abnormality of the vertebral column	55904	KMT2E	OMIM:618512
HP:0000925	Abnormality of the vertebral column	1717	DHCR7	ORPHA:818
HP:0000925	Abnormality of the vertebral column	4758	NEU1	ORPHA:812
HP:0000925	Abnormality of the vertebral column	64175	P3H1	OMIM:610915
HP:0000925	Abnormality of the vertebral column	6197	RPS6KA3	OMIM:303600
HP:0000925	Abnormality of the vertebral column	6197	RPS6KA3	ORPHA:276630
HP:0000925	Abnormality of the vertebral column	6197	RPS6KA3	ORPHA:192
HP:0000925	Abnormality of the vertebral column	84572	GNPTG	OMIM:252605
HP:0000925	Abnormality of the vertebral column	137492	VPS37A	ORPHA:319199
HP:0000925	Abnormality of the vertebral column	137492	VPS37A	OMIM:614898
HP:0000925	Abnormality of the vertebral column	57492	ARID1B	OMIM:135900
HP:0000925	Abnormality of the vertebral column	274	BIN1	OMIM:255200
HP:0000925	Abnormality of the vertebral column	3064	HTT	OMIM:617435
HP:0000925	Abnormality of the vertebral column	64359	NXN	ORPHA:1507
HP:0000925	Abnormality of the vertebral column	83550	GPR101	ORPHA:963
HP:0000925	Abnormality of the vertebral column	83550	GPR101	OMIM:300942
HP:0000925	Abnormality of the vertebral column	9049	AIP	ORPHA:963
HP:0000925	Abnormality of the vertebral column	9049	AIP	OMIM:219090
HP:0000925	Abnormality of the vertebral column	4323	MMP14	OMIM:277950
HP:0000925	Abnormality of the vertebral column	3106	HLA-B	OMIM:106300
HP:0000925	Abnormality of the vertebral column	7020	TFAP2A	OMIM:113620
HP:0000925	Abnormality of the vertebral column	5424	POLD1	OMIM:615381
HP:0000925	Abnormality of the vertebral column	26053	AUTS2	ORPHA:352490
HP:0000925	Abnormality of the vertebral column	26053	AUTS2	OMIM:615834
HP:0000925	Abnormality of the vertebral column	23545	ATP6V0A2	OMIM:278250
HP:0000925	Abnormality of the vertebral column	7471	WNT1	ORPHA:85193
HP:0000925	Abnormality of the vertebral column	89780	WNT3A	ORPHA:85193
HP:0000925	Abnormality of the vertebral column	200734	SPRED2	OMIM:619745
HP:0000925	Abnormality of the vertebral column	11160	ERLIN2	OMIM:611225
HP:0000925	Abnormality of the vertebral column	3782	KCNN3	OMIM:618658
HP:0000925	Abnormality of the vertebral column	113278	SLC52A3	OMIM:211530
HP:0000925	Abnormality of the vertebral column	5373	PMM2	OMIM:212065
HP:0000925	Abnormality of the vertebral column	9653	HS2ST1	OMIM:619194
HP:0000925	Abnormality of the vertebral column	65109	UPF3B	OMIM:300676
HP:0000925	Abnormality of the vertebral column	60	ACTB	ORPHA:64755
HP:0000925	Abnormality of the vertebral column	60	ACTB	ORPHA:79107
HP:0000925	Abnormality of the vertebral column	6804	STX1A	ORPHA:904
HP:0000925	Abnormality of the vertebral column	7461	CLIP2	ORPHA:904
HP:0000925	Abnormality of the vertebral column	84277	DNAJC30	ORPHA:904
HP:0000925	Abnormality of the vertebral column	8468	FKBP6	ORPHA:904
HP:0000925	Abnormality of the vertebral column	5982	RFC2	ORPHA:904
HP:0000925	Abnormality of the vertebral column	2969	GTF2I	ORPHA:904
HP:0000925	Abnormality of the vertebral column	3984	LIMK1	ORPHA:904
HP:0000925	Abnormality of the vertebral column	9569	GTF2IRD1	ORPHA:904
HP:0000925	Abnormality of the vertebral column	155382	VPS37D	ORPHA:904
HP:0000925	Abnormality of the vertebral column	155368	METTL27	ORPHA:904
HP:0000925	Abnormality of the vertebral column	114049	BUD23	ORPHA:904
HP:0000925	Abnormality of the vertebral column	7458	EIF4H	ORPHA:904
HP:0000925	Abnormality of the vertebral column	84163	GTF2IRD2	ORPHA:904
HP:0000925	Abnormality of the vertebral column	9275	BCL7B	ORPHA:904
HP:0000925	Abnormality of the vertebral column	26608	TBL2	ORPHA:904
HP:0000925	Abnormality of the vertebral column	653361	NCF1	ORPHA:904
HP:0000925	Abnormality of the vertebral column	135886	TMEM270	ORPHA:904
HP:0000925	Abnormality of the vertebral column	51085	MLXIPL	ORPHA:904
HP:0000925	Abnormality of the vertebral column	9031	BAZ1B	ORPHA:904
HP:0000925	Abnormality of the vertebral column	5590	PRKCZ	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	2563	GABRD	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	23013	SPEN	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	8510	MMP23B	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	7798	LUZP1	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	6497	SKI	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	10630	PDPN	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	10277	UBE4B	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	8514	KCNAB2	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	63976	PRDM16	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	54897	CASZ1	ORPHA:1606
HP:0000925	Abnormality of the vertebral column	2705	GJB1	ORPHA:101075
HP:0000925	Abnormality of the vertebral column	4952	OCRL	OMIM:309000
HP:0000925	Abnormality of the vertebral column	4952	OCRL	ORPHA:534
HP:0000925	Abnormality of the vertebral column	64837	KLC2	OMIM:609541
HP:0000925	Abnormality of the vertebral column	1859	DYRK1A	ORPHA:464311
HP:0000925	Abnormality of the vertebral column	1859	DYRK1A	ORPHA:268261
HP:0000925	Abnormality of the vertebral column	23137	SMC5	OMIM:620185
HP:0000925	Abnormality of the vertebral column	92667	MGME1	ORPHA:352447
HP:0000925	Abnormality of the vertebral column	92667	MGME1	OMIM:615084
HP:0000925	Abnormality of the vertebral column	56052	ALG1	ORPHA:79327
HP:0000925	Abnormality of the vertebral column	4247	MGAT2	ORPHA:79329
HP:0000925	Abnormality of the vertebral column	26137	ZBTB20	OMIM:259050
HP:0000925	Abnormality of the vertebral column	26137	ZBTB20	ORPHA:3042
HP:0000925	Abnormality of the vertebral column	6628	SNRPB	ORPHA:1393
HP:0000925	Abnormality of the vertebral column	55906	ZC4H2	ORPHA:3454
HP:0000925	Abnormality of the vertebral column	55906	ZC4H2	OMIM:301041
HP:0000925	Abnormality of the vertebral column	55906	ZC4H2	OMIM:314580
HP:0000925	Abnormality of the vertebral column	124583	CANT1	OMIM:251450
HP:0000925	Abnormality of the vertebral column	23299	BICD2	OMIM:615290
HP:0000925	Abnormality of the vertebral column	23299	BICD2	OMIM:618291
HP:0000925	Abnormality of the vertebral column	6843	VAMP1	OMIM:618323
HP:0000925	Abnormality of the vertebral column	55325	UFSP2	ORPHA:2114
HP:0000925	Abnormality of the vertebral column	2146	EZH2	OMIM:277590
HP:0000925	Abnormality of the vertebral column	57704	GBA2	OMIM:614409
HP:0000925	Abnormality of the vertebral column	80324	PUS1	ORPHA:2598
HP:0000925	Abnormality of the vertebral column	51067	YARS2	ORPHA:2598
HP:0000925	Abnormality of the vertebral column	2273	FHL1	ORPHA:98863
HP:0000925	Abnormality of the vertebral column	2273	FHL1	OMIM:300718
HP:0000925	Abnormality of the vertebral column	2273	FHL1	OMIM:300280
HP:0000925	Abnormality of the vertebral column	2010	EMD	ORPHA:98863
HP:0000925	Abnormality of the vertebral column	9896	FIG4	OMIM:216340
HP:0000925	Abnormality of the vertebral column	26100	WIPI2	OMIM:618453
HP:0000925	Abnormality of the vertebral column	2303	FOXC2	OMIM:153400
HP:0000925	Abnormality of the vertebral column	4212	MEIS2	ORPHA:261190
HP:0000925	Abnormality of the vertebral column	4204	MECP2	OMIM:312750
HP:0000925	Abnormality of the vertebral column	4204	MECP2	ORPHA:3095
HP:0000925	Abnormality of the vertebral column	1861	TOR1A	OMIM:128100
HP:0000925	Abnormality of the vertebral column	2629	GBA1	ORPHA:77259
HP:0000925	Abnormality of the vertebral column	950	SCARB2	ORPHA:77259
HP:0000925	Abnormality of the vertebral column	79188	TMEM43	ORPHA:98853
HP:0000925	Abnormality of the vertebral column	23345	SYNE1	ORPHA:98853
HP:0000925	Abnormality of the vertebral column	23345	SYNE1	ORPHA:88644
HP:0000925	Abnormality of the vertebral column	23345	SYNE1	OMIM:610743
HP:0000925	Abnormality of the vertebral column	23345	SYNE1	OMIM:618484
HP:0000925	Abnormality of the vertebral column	23224	SYNE2	ORPHA:98853
HP:0000925	Abnormality of the vertebral column	5979	RET	OMIM:162300
HP:0000925	Abnormality of the vertebral column	9759	HDAC4	OMIM:619797
HP:0000925	Abnormality of the vertebral column	7167	TPI1	OMIM:615512
HP:0000925	Abnormality of the vertebral column	2290	FOXG1	OMIM:613454
HP:0000925	Abnormality of the vertebral column	2290	FOXG1	ORPHA:261144
HP:0000925	Abnormality of the vertebral column	55628	ZNF407	OMIM:619557
HP:0000925	Abnormality of the vertebral column	2778	GNAS	OMIM:219080
HP:0000925	Abnormality of the vertebral column	79796	ALG9	OMIM:608776
HP:0000925	Abnormality of the vertebral column	1277	COL1A1	OMIM:259420
HP:0000925	Abnormality of the vertebral column	1277	COL1A1	OMIM:130060
HP:0000925	Abnormality of the vertebral column	1277	COL1A1	OMIM:166220
HP:0000925	Abnormality of the vertebral column	7681	MKRN3	OMIM:176270
HP:0000925	Abnormality of the vertebral column	3653	IPW	OMIM:176270
HP:0000925	Abnormality of the vertebral column	54551	MAGEL2	OMIM:176270
HP:0000925	Abnormality of the vertebral column	54551	MAGEL2	ORPHA:398069
HP:0000925	Abnormality of the vertebral column	54551	MAGEL2	OMIM:615547
HP:0000925	Abnormality of the vertebral column	791114	PWRN1	OMIM:176270
HP:0000925	Abnormality of the vertebral column	100033413	SNORD116-1	OMIM:176270
HP:0000925	Abnormality of the vertebral column	8924	HERC2	OMIM:176270
HP:0000925	Abnormality of the vertebral column	145624	PWAR1	OMIM:176270
HP:0000925	Abnormality of the vertebral column	23742	NPAP1	OMIM:176270
HP:0000925	Abnormality of the vertebral column	338433	SNORD115-1	OMIM:176270
HP:0000925	Abnormality of the vertebral column	6792	CDKL5	ORPHA:3095
HP:0000925	Abnormality of the vertebral column	6792	CDKL5	ORPHA:505652
HP:0000925	Abnormality of the vertebral column	22854	NTNG1	ORPHA:3095
HP:0000925	Abnormality of the vertebral column	9568	GABBR2	ORPHA:3095
HP:0000925	Abnormality of the vertebral column	8243	SMC1A	ORPHA:3095
HP:0000925	Abnormality of the vertebral column	60482	SLC5A7	OMIM:617143
HP:0000925	Abnormality of the vertebral column	51103	NDUFAF1	OMIM:618234
HP:0000925	Abnormality of the vertebral column	1436	CSF1R	OMIM:618476
HP:0000925	Abnormality of the vertebral column	29078	NDUFAF4	OMIM:618237
HP:0000925	Abnormality of the vertebral column	3897	L1CAM	OMIM:303350
HP:0000925	Abnormality of the vertebral column	28982	FLVCR1	ORPHA:88628
HP:0000925	Abnormality of the vertebral column	8888	MCM3AP	OMIM:618124
HP:0000925	Abnormality of the vertebral column	3955	LFNG	ORPHA:2311
HP:0000925	Abnormality of the vertebral column	3955	LFNG	OMIM:609813
HP:0000925	Abnormality of the vertebral column	4982	TNFRSF11B	OMIM:239000
HP:0000925	Abnormality of the vertebral column	10483	SEC23B	ORPHA:201
HP:0000925	Abnormality of the vertebral column	5728	PTEN	ORPHA:201
HP:0000925	Abnormality of the vertebral column	5728	PTEN	ORPHA:744
HP:0000925	Abnormality of the vertebral column	5728	PTEN	OMIM:158350
HP:0000925	Abnormality of the vertebral column	6390	SDHB	ORPHA:201
HP:0000925	Abnormality of the vertebral column	6392	SDHD	ORPHA:201
HP:0000925	Abnormality of the vertebral column	6391	SDHC	ORPHA:201
HP:0000925	Abnormality of the vertebral column	207	AKT1	ORPHA:201
HP:0000925	Abnormality of the vertebral column	207	AKT1	ORPHA:744
HP:0000925	Abnormality of the vertebral column	207	AKT1	OMIM:615109
HP:0000925	Abnormality of the vertebral column	205717	USF3	ORPHA:201
HP:0000925	Abnormality of the vertebral column	5290	PIK3CA	ORPHA:201
HP:0000925	Abnormality of the vertebral column	5290	PIK3CA	OMIM:615108
HP:0000925	Abnormality of the vertebral column	100144748	KLLN	ORPHA:201
HP:0000925	Abnormality of the vertebral column	25942	SIN3A	ORPHA:94065
HP:0000925	Abnormality of the vertebral column	54681	P4HTM	OMIM:618493
HP:0000925	Abnormality of the vertebral column	25	ABL1	OMIM:617602
HP:0000925	Abnormality of the vertebral column	3908	LAMA2	OMIM:618138
HP:0000925	Abnormality of the vertebral column	9101	USP8	OMIM:219090
HP:0000925	Abnormality of the vertebral column	59336	PRDM13	OMIM:619909
HP:0000925	Abnormality of the vertebral column	6611	SMS	ORPHA:3063
HP:0000925	Abnormality of the vertebral column	7874	USP7	ORPHA:500055
HP:0000925	Abnormality of the vertebral column	9150	CTDP1	ORPHA:48431
HP:0000925	Abnormality of the vertebral column	10526	IPO8	OMIM:619472
HP:0000925	Abnormality of the vertebral column	2892	GRIA3	ORPHA:364028
HP:0000925	Abnormality of the vertebral column	2588	GALNS	OMIM:253000
HP:0000925	Abnormality of the vertebral column	5352	PLOD2	ORPHA:2771
HP:0000925	Abnormality of the vertebral column	60681	FKBP10	ORPHA:2771
HP:0000925	Abnormality of the vertebral column	60681	FKBP10	OMIM:259450
HP:0000925	Abnormality of the vertebral column	7040	TGFB1	ORPHA:1328
HP:0000925	Abnormality of the vertebral column	7343	UBTF	ORPHA:500180
HP:0000925	Abnormality of the vertebral column	8720	MBTPS1	OMIM:618392
HP:0000925	Abnormality of the vertebral column	4927	NUP88	OMIM:618393
HP:0000925	Abnormality of the vertebral column	23405	DICER1	OMIM:618272
HP:0000925	Abnormality of the vertebral column	283446	MYO1H	OMIM:619482
HP:0000925	Abnormality of the vertebral column	7204	TRIO	OMIM:617061
HP:0000925	Abnormality of the vertebral column	7204	TRIO	ORPHA:476126
HP:0000925	Abnormality of the vertebral column	4841	NONO	OMIM:300967
HP:0000925	Abnormality of the vertebral column	57477	SHROOM4	ORPHA:85288
HP:0000925	Abnormality of the vertebral column	91875	TTC5	OMIM:619244
HP:0000925	Abnormality of the vertebral column	90416	CCDC32	OMIM:619123
HP:0000925	Abnormality of the vertebral column	79152	FA2H	ORPHA:171629
HP:0000925	Abnormality of the vertebral column	9373	PLAA	ORPHA:521426
HP:0000925	Abnormality of the vertebral column	9373	PLAA	OMIM:617527
HP:0000925	Abnormality of the vertebral column	54676	GTPBP2	OMIM:617988
HP:0000925	Abnormality of the vertebral column	55252	ASXL2	OMIM:617190
HP:0000925	Abnormality of the vertebral column	1315	COPB1	OMIM:619255
HP:0000925	Abnormality of the vertebral column	2990	GUSB	OMIM:253220
HP:0000925	Abnormality of the vertebral column	203190	LGI3	OMIM:620007
HP:0000925	Abnormality of the vertebral column	5479	PPIB	OMIM:259440
HP:0000925	Abnormality of the vertebral column	22930	RAB3GAP1	ORPHA:2510
HP:0000925	Abnormality of the vertebral column	22931	RAB18	ORPHA:2510
HP:0000925	Abnormality of the vertebral column	128637	TBC1D20	ORPHA:2510
HP:0000925	Abnormality of the vertebral column	9244	CRLF1	ORPHA:1545
HP:0000925	Abnormality of the vertebral column	11011	TLK2	OMIM:618050
HP:0000925	Abnormality of the vertebral column	1513	CTSK	ORPHA:763
HP:0000925	Abnormality of the vertebral column	51763	INPP5K	OMIM:617404
HP:0000925	Abnormality of the vertebral column	58508	KMT2C	OMIM:617768
HP:0000925	Abnormality of the vertebral column	5297	PI4KA	OMIM:619708
HP:0000925	Abnormality of the vertebral column	5648	MASP1	OMIM:257920
HP:0000925	Abnormality of the vertebral column	5648	MASP1	ORPHA:293843
HP:0000925	Abnormality of the vertebral column	10584	COLEC10	ORPHA:293843
HP:0000925	Abnormality of the vertebral column	79633	FAT4	ORPHA:314679
HP:0000925	Abnormality of the vertebral column	8642	DCHS1	ORPHA:314679
HP:0000925	Abnormality of the vertebral column	2737	GLI3	ORPHA:672
HP:0000925	Abnormality of the vertebral column	2737	GLI3	OMIM:146510
HP:0000925	Abnormality of the vertebral column	2737	GLI3	ORPHA:93322
HP:0000925	Abnormality of the vertebral column	9791	PTDSS1	OMIM:151050
HP:0000925	Abnormality of the vertebral column	5447	POR	OMIM:201750
HP:0000925	Abnormality of the vertebral column	6909	TBX2	OMIM:618223
HP:0000925	Abnormality of the vertebral column	8558	CDK10	OMIM:617694
HP:0000925	Abnormality of the vertebral column	145173	B3GLCT	OMIM:261540
HP:0000925	Abnormality of the vertebral column	1857	DVL3	ORPHA:3107
HP:0000925	Abnormality of the vertebral column	7474	WNT5A	ORPHA:3107
HP:0000925	Abnormality of the vertebral column	1855	DVL1	ORPHA:3107
HP:0000925	Abnormality of the vertebral column	2535	FZD2	ORPHA:3107
HP:0000925	Abnormality of the vertebral column	134701	RIPPLY2	OMIM:616566
HP:0000925	Abnormality of the vertebral column	5885	RAD21	OMIM:614701
HP:0000925	Abnormality of the vertebral column	6650	CAPN15	OMIM:619318
HP:0000925	Abnormality of the vertebral column	10992	SF3B2	OMIM:164210
HP:0000925	Abnormality of the vertebral column	54499	TMCO1	OMIM:213980
HP:0000925	Abnormality of the vertebral column	54499	TMCO1	ORPHA:1394
HP:0000925	Abnormality of the vertebral column	546	ATRX	OMIM:301040
HP:0000925	Abnormality of the vertebral column	526	ATP6V1B2	ORPHA:79500
HP:0000925	Abnormality of the vertebral column	57465	TBC1D24	ORPHA:79500
HP:0000925	Abnormality of the vertebral column	6651	SON	OMIM:617140
HP:0000925	Abnormality of the vertebral column	6651	SON	ORPHA:500150
HP:0000925	Abnormality of the vertebral column	4920	ROR2	OMIM:113000
HP:0000925	Abnormality of the vertebral column	4920	ROR2	OMIM:268310
HP:0000925	Abnormality of the vertebral column	8942	KYNU	OMIM:617661
HP:0000925	Abnormality of the vertebral column	8085	KMT2D	ORPHA:2322
HP:0000925	Abnormality of the vertebral column	7403	KDM6A	ORPHA:2322
HP:0000925	Abnormality of the vertebral column	182	JAG1	OMIM:118450
HP:0000925	Abnormality of the vertebral column	388015	RTL1	ORPHA:96334
HP:0000925	Abnormality of the vertebral column	8788	DLK1	ORPHA:96334
HP:0000925	Abnormality of the vertebral column	55384	MEG3	ORPHA:96334
HP:0000925	Abnormality of the vertebral column	10683	DLL3	OMIM:277300
HP:0000925	Abnormality of the vertebral column	145873	MESP2	OMIM:277300
HP:0000925	Abnormality of the vertebral column	145873	MESP2	OMIM:608681
HP:0000925	Abnormality of the vertebral column	55636	CHD7	ORPHA:138
HP:0000925	Abnormality of the vertebral column	55636	CHD7	OMIM:214800
HP:0000925	Abnormality of the vertebral column	9723	SEMA3E	ORPHA:138
HP:0000925	Abnormality of the vertebral column	2187	FANCB	ORPHA:3412
HP:0000925	Abnormality of the vertebral column	5727	PTCH1	ORPHA:377
HP:0000925	Abnormality of the vertebral column	5727	PTCH1	OMIM:109400
HP:0000925	Abnormality of the vertebral column	8643	PTCH2	ORPHA:377
HP:0000925	Abnormality of the vertebral column	51684	SUFU	ORPHA:377
HP:0000925	Abnormality of the vertebral column	6657	SOX2	ORPHA:77298
HP:0000925	Abnormality of the vertebral column	6657	SOX2	OMIM:206900
HP:0000925	Abnormality of the vertebral column	9897	WASHC5	OMIM:220210
HP:0000925	Abnormality of the vertebral column	9897	WASHC5	ORPHA:7
HP:0000925	Abnormality of the vertebral column	55777	MBD5	OMIM:156200
HP:0000925	Abnormality of the vertebral column	4621	MYH3	OMIM:178110
HP:0000925	Abnormality of the vertebral column	4998	ORC1	OMIM:224690
HP:0000925	Abnormality of the vertebral column	51360	MBTPS2	ORPHA:85284
HP:0000925	Abnormality of the vertebral column	7476	WNT7A	OMIM:276820
HP:0000925	Abnormality of the vertebral column	28952	CCDC22	ORPHA:7
HP:0000925	Abnormality of the vertebral column	10682	EBP	OMIM:302960
HP:0000925	Abnormality of the vertebral column	26175	LYSET	OMIM:619345
HP:0000925	Abnormality of the vertebral column	22827	PUF60	OMIM:615583
HP:0000925	Abnormality of the vertebral column	84667	HES7	OMIM:613686
HP:0000925	Abnormality of the vertebral column	8517	IKBKG	OMIM:308300
HP:0000925	Abnormality of the vertebral column	4990	SIX6	OMIM:206900
HP:0000925	Abnormality of the vertebral column	6911	TBX6	OMIM:122600
HP:0000925	Abnormality of the vertebral column	4038	LRP4	OMIM:212780
HP:0000925	Abnormality of the vertebral column	6399	TRAPPC2	ORPHA:93284
HP:0000925	Abnormality of the vertebral column	6399	TRAPPC2	OMIM:313400
HP:0000925	Abnormality of the vertebral column	65992	DDRGK1	OMIM:602557
HP:0000925	Abnormality of the vertebral column	2335	FN1	ORPHA:93315
HP:0000925	Abnormality of the vertebral column	4010	LMX1B	ORPHA:2614
HP:0000925	Abnormality of the vertebral column	4010	LMX1B	OMIM:161200
HP:0000925	Abnormality of the vertebral column	23314	SATB2	ORPHA:251028
HP:0000925	Abnormality of the vertebral column	7415	VCP	OMIM:167320
HP:0000925	Abnormality of the vertebral column	7415	VCP	ORPHA:435387
HP:0000925	Abnormality of the vertebral column	23363	OBSL1	OMIM:612921
HP:0000925	Abnormality of the vertebral column	50814	NSDHL	ORPHA:251383
HP:0000925	Abnormality of the vertebral column	10060	ABCC9	OMIM:619719
HP:0000925	Abnormality of the vertebral column	59341	TRPV4	ORPHA:93314
HP:0000925	Abnormality of the vertebral column	411	ARSB	OMIM:253200
HP:0000925	Abnormality of the vertebral column	1302	COL11A2	OMIM:215150
HP:0000925	Abnormality of the vertebral column	1302	COL11A2	ORPHA:1427
HP:0000925	Abnormality of the vertebral column	2617	GARS1	OMIM:619042
HP:0000925	Abnormality of the vertebral column	473	RERE	OMIM:616975
HP:0000925	Abnormality of the vertebral column	10216	PRG4	ORPHA:2848
HP:0000925	Abnormality of the vertebral column	57156	TMEM63C	OMIM:619966
HP:0000925	Abnormality of the vertebral column	25782	RAB3GAP2	OMIM:212720
HP:0000925	Abnormality of the vertebral column	176	ACAN	OMIM:612813
HP:0000925	Abnormality of the vertebral column	176	ACAN	OMIM:165800
HP:0000925	Abnormality of the vertebral column	176	ACAN	ORPHA:171866
HP:0000925	Abnormality of the vertebral column	4625	MYH7	OMIM:160500
HP:0000925	Abnormality of the vertebral column	29925	GMPPB	ORPHA:353327
HP:0000925	Abnormality of the vertebral column	29925	GMPPB	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	2673	GFPT1	ORPHA:353327
HP:0000925	Abnormality of the vertebral column	1798	DPAGT1	ORPHA:353327
HP:0000925	Abnormality of the vertebral column	85365	ALG2	ORPHA:353327
HP:0000925	Abnormality of the vertebral column	199857	ALG14	ORPHA:353327
HP:0000925	Abnormality of the vertebral column	54808	DYM	OMIM:223800
HP:0000925	Abnormality of the vertebral column	6660	SOX5	ORPHA:313892
HP:0000925	Abnormality of the vertebral column	4148	MATN3	ORPHA:156728
HP:0000925	Abnormality of the vertebral column	4148	MATN3	OMIM:608728
HP:0000925	Abnormality of the vertebral column	1300	COL10A1	ORPHA:174
HP:0000925	Abnormality of the vertebral column	1300	COL10A1	OMIM:156500
HP:0000925	Abnormality of the vertebral column	65082	VPS33A	ORPHA:505248
HP:0000925	Abnormality of the vertebral column	54	ACP5	OMIM:607944
HP:0000925	Abnormality of the vertebral column	8925	HERC1	ORPHA:457359
HP:0000925	Abnormality of the vertebral column	55870	ASH1L	OMIM:617796
HP:0000925	Abnormality of the vertebral column	4052	LTBP1	OMIM:619451
HP:0000925	Abnormality of the vertebral column	84665	MYPN	ORPHA:171881
HP:0000925	Abnormality of the vertebral column	7169	TPM2	ORPHA:171881
HP:0000925	Abnormality of the vertebral column	7170	TPM3	ORPHA:171881
HP:0000925	Abnormality of the vertebral column	7170	TPM3	OMIM:255310
HP:0000925	Abnormality of the vertebral column	9469	CHST3	OMIM:143095
HP:0000925	Abnormality of the vertebral column	4604	MYBPC1	OMIM:618524
HP:0000925	Abnormality of the vertebral column	64131	XYLT1	OMIM:615777
HP:0000925	Abnormality of the vertebral column	1292	COL6A2	OMIM:255600
HP:0000925	Abnormality of the vertebral column	1292	COL6A2	ORPHA:610
HP:0000925	Abnormality of the vertebral column	157680	VPS13B	OMIM:216550
HP:0000925	Abnormality of the vertebral column	23116	TOGARAM1	OMIM:619185
HP:0000925	Abnormality of the vertebral column	7703	PCGF2	OMIM:618371
HP:0000925	Abnormality of the vertebral column	1605	DAG1	ORPHA:280333
HP:0000925	Abnormality of the vertebral column	1605	DAG1	OMIM:613818
HP:0000925	Abnormality of the vertebral column	3549	IHH	OMIM:607778
HP:0000925	Abnormality of the vertebral column	633	BGN	OMIM:300106
HP:0000925	Abnormality of the vertebral column	164	AP1G1	OMIM:619467
HP:0000925	Abnormality of the vertebral column	6023	RMRP	OMIM:607095
HP:0000925	Abnormality of the vertebral column	6023	RMRP	OMIM:250250
HP:0000925	Abnormality of the vertebral column	57531	HACE1	OMIM:616756
HP:0000925	Abnormality of the vertebral column	9927	MFN2	OMIM:601152
HP:0000925	Abnormality of the vertebral column	81794	ADAMTS10	OMIM:277600
HP:0000925	Abnormality of the vertebral column	1311	COMP	ORPHA:750
HP:0000925	Abnormality of the vertebral column	1311	COMP	OMIM:177170
HP:0000925	Abnormality of the vertebral column	6445	SGCG	ORPHA:353
HP:0000925	Abnormality of the vertebral column	10585	POMT1	OMIM:609308
HP:0000925	Abnormality of the vertebral column	10585	POMT1	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	10585	POMT1	ORPHA:86812
HP:0000925	Abnormality of the vertebral column	4882	NPR2	OMIM:602875
HP:0000925	Abnormality of the vertebral column	84265	POLR3GL	OMIM:619234
HP:0000925	Abnormality of the vertebral column	55697	VAC14	OMIM:617054
HP:0000925	Abnormality of the vertebral column	8260	NAA10	OMIM:309800
HP:0000925	Abnormality of the vertebral column	54880	BCOR	OMIM:309800
HP:0000925	Abnormality of the vertebral column	85301	COL27A1	OMIM:615155
HP:0000925	Abnormality of the vertebral column	63895	PIEZO2	OMIM:114300
HP:0000925	Abnormality of the vertebral column	2517	FUCA1	OMIM:230000
HP:0000925	Abnormality of the vertebral column	5593	PRKG2	OMIM:619636
HP:0000925	Abnormality of the vertebral column	4796	TONSL	ORPHA:93357
HP:0000925	Abnormality of the vertebral column	4796	TONSL	OMIM:271510
HP:0000925	Abnormality of the vertebral column	145258	GSC	OMIM:602471
HP:0000925	Abnormality of the vertebral column	79147	FKRP	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	29954	POMT2	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	84197	POMK	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	55624	POMGNT1	ORPHA:370959
HP:0000925	Abnormality of the vertebral column	2200	FBN1	OMIM:608328
HP:0000925	Abnormality of the vertebral column	1836	SLC26A2	OMIM:222600
HP:0000925	Abnormality of the vertebral column	1836	SLC26A2	OMIM:256050
HP:0000925	Abnormality of the vertebral column	6857	SYT1	ORPHA:522077
HP:0000925	Abnormality of the vertebral column	6473	SHOX	OMIM:249700
HP:0000925	Abnormality of the vertebral column	83737	ITCH	OMIM:613385
HP:0000925	Abnormality of the vertebral column	50485	SMARCAL1	ORPHA:1830
HP:0000925	Abnormality of the vertebral column	50485	SMARCAL1	OMIM:242900
HP:0000925	Abnormality of the vertebral column	23529	CLCF1	OMIM:610313
HP:0000925	Abnormality of the vertebral column	9968	MED12	OMIM:305450
HP:0000925	Abnormality of the vertebral column	1303	COL12A1	ORPHA:610
HP:0000925	Abnormality of the vertebral column	1291	COL6A1	ORPHA:610
HP:0000925	Abnormality of the vertebral column	1293	COL6A3	ORPHA:610
HP:0000925	Abnormality of the vertebral column	50515	CHST11	OMIM:618167
HP:0000925	Abnormality of the vertebral column	339855	KY	OMIM:617114
HP:0000925	Abnormality of the vertebral column	1073	CFL2	OMIM:610687
HP:0000925	Abnormality of the vertebral column	3339	HSPG2	OMIM:255800
HP:0000925	Abnormality of the vertebral column	257	ALX3	ORPHA:391474
HP:0000925	Abnormality of the vertebral column	6261	RYR1	OMIM:619542
HP:0000925	Abnormality of the vertebral column	3991	LIPE	OMIM:615980
HP:0000925	Abnormality of the vertebral column	5339	PLEC	OMIM:613723
HP:0000925	Abnormality of the vertebral column	1756	DMD	ORPHA:206546
HP:0000925	Abnormality of the vertebral column	4784	NFIX	OMIM:602535
HP:0000925	Abnormality of the vertebral column	9131	AIFM1	OMIM:300232
HP:0000925	Abnormality of the vertebral column	4677	NARS1	OMIM:619092
HP:0000925	Abnormality of the vertebral column	5286	PIK3C2A	OMIM:618440
HP:0000925	Abnormality of the vertebral column	5286	PIK3C2A	ORPHA:557003
HP:0000925	Abnormality of the vertebral column	124997	WDR81	OMIM:610185
HP:0000925	Abnormality of the vertebral column	1593	CYP27A1	ORPHA:909
HP:0000925	Abnormality of the vertebral column	404672	GTF2H5	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	833	CARS1	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	2068	ERCC2	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	7737	RNF113A	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	136647	MPLKIP	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	6897	TARS1	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	2071	ERCC3	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	2961	GTF2E2	ORPHA:33364
HP:0000925	Abnormality of the vertebral column	79583	TMEM231	ORPHA:2752
HP:0000925	Abnormality of the vertebral column	224	ALDH3A2	OMIM:270200
HP:0000925	Abnormality of the vertebral column	23133	PHF8	OMIM:300263
HP:0000925	Abnormality of the vertebral column	64132	XYLT2	ORPHA:85194
HP:0000925	Abnormality of the vertebral column	79644	SRD5A3	OMIM:612713
HP:0000925	Abnormality of the vertebral column	5296	PIK3R2	OMIM:603387
HP:0000925	Abnormality of the vertebral column	7840	ALMS1	ORPHA:64
HP:0000925	Abnormality of the vertebral column	91574	MTRFR	ORPHA:254930
HP:0000925	Abnormality of the vertebral column	3094	HINT1	ORPHA:324442
HP:0000925	Abnormality of the vertebral column	165	AEBP1	OMIM:618000
HP:0000925	Abnormality of the vertebral column	165	AEBP1	ORPHA:536532
HP:0000925	Abnormality of the vertebral column	10381	TUBB3	ORPHA:300570
HP:0000925	Abnormality of the vertebral column	7841	MOGS	OMIM:606056
HP:0000925	Abnormality of the vertebral column	7841	MOGS	ORPHA:79330
HP:0000925	Abnormality of the vertebral column	6442	SGCA	ORPHA:62
HP:0000925	Abnormality of the vertebral column	5351	PLOD1	ORPHA:1900
HP:0000925	Abnormality of the vertebral column	10613	ERLIN1	ORPHA:401785
HP:0000925	Abnormality of the vertebral column	10613	ERLIN1	OMIM:615681
HP:0000925	Abnormality of the vertebral column	10733	PLK4	OMIM:616171
HP:0000925	Abnormality of the vertebral column	55969	RAB5IF	OMIM:616994
HP:0000925	Abnormality of the vertebral column	9573	GDF3	OMIM:613702
HP:0000925	Abnormality of the vertebral column	9531	BAG3	OMIM:612954
HP:0000925	Abnormality of the vertebral column	871	SERPINH1	OMIM:613848
HP:0000925	Abnormality of the vertebral column	5830	PEX5	OMIM:616716
HP:0000925	Abnormality of the vertebral column	2799	GNS	OMIM:252940
HP:0000925	Abnormality of the vertebral column	9382	COG1	OMIM:611209
HP:0000925	Abnormality of the vertebral column	5932	RBBP8	OMIM:251255
HP:0000925	Abnormality of the vertebral column	3476	IGBP1	OMIM:300472
HP:0000925	Abnormality of the vertebral column	23162	MAPK8IP3	OMIM:618443
HP:0000925	Abnormality of the vertebral column	3190	HNRNPK	OMIM:616580
HP:0000925	Abnormality of the vertebral column	89970	RSPRY1	ORPHA:457395
HP:0000925	Abnormality of the vertebral column	89970	RSPRY1	OMIM:616723
HP:0000925	Abnormality of the vertebral column	8239	USP9X	ORPHA:480880
HP:0000925	Abnormality of the vertebral column	3572	IL6ST	OMIM:618523
HP:0000925	Abnormality of the vertebral column	84700	MYO18B	OMIM:616549
HP:0000925	Abnormality of the vertebral column	5159	PDGFRB	OMIM:616592
HP:0000925	Abnormality of the vertebral column	1278	COL1A2	ORPHA:230851
HP:0000925	Abnormality of the vertebral column	169792	GLIS3	OMIM:610199
HP:0000925	Abnormality of the vertebral column	2783	GNB2	OMIM:619503
HP:0000925	Abnormality of the vertebral column	3930	LBR	OMIM:618019
HP:0000925	Abnormality of the vertebral column	64221	ROBO3	OMIM:607313
HP:0000925	Abnormality of the vertebral column	4054	LTBP3	OMIM:601216
HP:0000925	Abnormality of the vertebral column	54928	BPNT2	OMIM:614078
HP:0000925	Abnormality of the vertebral column	5077	PAX3	OMIM:193500
HP:0000925	Abnormality of the vertebral column	1723	DHODH	OMIM:263750
HP:0000925	Abnormality of the vertebral column	64412	GZF1	OMIM:617662
HP:0000925	Abnormality of the vertebral column	113189	CHST14	ORPHA:2953
HP:0000925	Abnormality of the vertebral column	29940	DSE	ORPHA:2953
HP:0000925	Abnormality of the vertebral column	6662	SOX9	OMIM:114290
HP:0000925	Abnormality of the vertebral column	415	ARSL	ORPHA:79345
HP:0000925	Abnormality of the vertebral column	2239	GPC4	ORPHA:373
HP:0000925	Abnormality of the vertebral column	2719	GPC3	ORPHA:373
HP:0000925	Abnormality of the vertebral column	54361	WNT4	ORPHA:3109
HP:0000925	Abnormality of the vertebral column	29123	ANKRD11	ORPHA:2332
HP:0000925	Abnormality of the vertebral column	29123	ANKRD11	OMIM:148050
HP:0000925	Abnormality of the vertebral column	284058	KANSL1	OMIM:610443
HP:0000925	Abnormality of the vertebral column	55191	NADSYN1	OMIM:618845
HP:0000925	Abnormality of the vertebral column	3081	HGD	OMIM:203500
HP:0000925	Abnormality of the vertebral column	2317	FLNB	OMIM:272460
HP:0000925	Abnormality of the vertebral column	2317	FLNB	OMIM:150250
HP:0000925	Abnormality of the vertebral column	4089	SMAD4	OMIM:139210
HP:0000925	Abnormality of the vertebral column	4854	NOTCH3	OMIM:130720
HP:0000925	Abnormality of the vertebral column	57167	SALL4	ORPHA:959
HP:0000925	Abnormality of the vertebral column	1146	CHRNG	OMIM:253290
HP:0000925	Abnormality of the vertebral column	1144	CHRND	OMIM:253290
HP:0000925	Abnormality of the vertebral column	1134	CHRNA1	OMIM:253290
HP:0000925	Abnormality of the vertebral column	8200	GDF5	OMIM:610017
HP:0000925	Abnormality of the vertebral column	53834	FGFRL1	OMIM:194190
HP:0000925	Abnormality of the vertebral column	5888	RAD51	ORPHA:238722
HP:0000925	Abnormality of the vertebral column	10126	DNAL4	ORPHA:238722
HP:0000925	Abnormality of the vertebral column	9423	NTN1	ORPHA:238722
HP:0000925	Abnormality of the vertebral column	1630	DCC	ORPHA:238722
HP:0000925	Abnormality of the vertebral column	2316	FLNA	OMIM:305620
HP:0000925	Abnormality of the vertebral column	2316	FLNA	ORPHA:1826
HP:0000925	Abnormality of the vertebral column	368	ABCC6	ORPHA:51608
HP:0000925	Abnormality of the vertebral column	22943	DKK1	ORPHA:268882
HP:0000925	Abnormality of the vertebral column	6885	MAP3K7	OMIM:617137
HP:0000925	Abnormality of the vertebral column	6885	MAP3K7	ORPHA:1826
HP:0000925	Abnormality of the vertebral column	6885	MAP3K7	OMIM:157800
HP:0000925	Abnormality of the vertebral column	1108	CHD4	OMIM:617159
HP:0000925	Abnormality of the vertebral column	9939	RBM8A	ORPHA:3320
HP:0000925	Abnormality of the vertebral column	9939	RBM8A	OMIM:274000
HP:0000925	Abnormality of the vertebral column	9241	NOG	OMIM:184460
HP:0000925	Abnormality of the vertebral column	55215	FANCI	OMIM:609053
HP:0000925	Abnormality of the vertebral column	3557	IL1RN	OMIM:612852
HP:0000925	Abnormality of the vertebral column	51729	WBP11	OMIM:619227
HP:0000925	Abnormality of the vertebral column	4222	MEOX1	OMIM:214300
HP:0000925	Abnormality of the vertebral column	84196	USP48	ORPHA:96253
HP:0000925	Abnormality of the vertebral column	64072	CDH23	ORPHA:96253
HP:0000925	Abnormality of the vertebral column	2908	NR3C1	ORPHA:96253
HP:0000925	Abnormality of the vertebral column	7390	UROS	OMIM:263700
HP:0000925	Abnormality of the vertebral column	79631	EFL1	ORPHA:811
HP:0000925	Abnormality of the vertebral column	51119	SBDS	OMIM:260400
HP:0000925	Abnormality of the vertebral column	134218	DNAJC21	OMIM:260400
HP:0000925	Abnormality of the vertebral column	6729	SRP54	OMIM:260400
HP:0000925	Abnormality of the vertebral column	89910	UBE3B	OMIM:244450
HP:0000925	Abnormality of the vertebral column	54187	NANS	OMIM:610442
HP:0000925	Abnormality of the vertebral column	9060	PAPSS2	OMIM:612847
HP:0000925	Abnormality of the vertebral column	8443	GNPAT	OMIM:222765
HP:0000925	Abnormality of the vertebral column	91252	SLC39A13	OMIM:612350
HP:0000925	Abnormality of the vertebral column	1298	COL9A2	ORPHA:250984
HP:0000925	Abnormality of the vertebral column	1299	COL9A3	ORPHA:250984
HP:0000925	Abnormality of the vertebral column	84695	LOXL3	ORPHA:250984
HP:0000925	Abnormality of the vertebral column	3417	IDH1	ORPHA:99646
HP:0000925	Abnormality of the vertebral column	8106	PABPN1	ORPHA:270
HP:0000925	Abnormality of the vertebral column	84627	ZNF469	OMIM:229200
HP:0000925	Abnormality of the vertebral column	650	BMP2	OMIM:617877
HP:0000925	Abnormality of the vertebral column	7048	TGFBR2	OMIM:610168
HP:0000925	Abnormality of the vertebral column	7042	TGFB2	OMIM:614816
HP:0000925	Abnormality of the vertebral column	79912	PYROXD1	OMIM:617258
HP:0000925	Abnormality of the vertebral column	9325	TRIP4	OMIM:617066
HP:0000925	Abnormality of the vertebral column	9325	TRIP4	ORPHA:486815
HP:0000925	Abnormality of the vertebral column	3714	JAG2	OMIM:619566
HP:0000925	Abnormality of the vertebral column	84876	ORAI1	OMIM:615883
HP:0000925	Abnormality of the vertebral column	4649	MYO9A	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	1103	CHAT	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	6576	SLC25A1	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	127833	SYT2	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	6572	SLC18A3	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	6616	SNAP25	ORPHA:98914
HP:0000925	Abnormality of the vertebral column	26092	TOR1AIP1	OMIM:617072
HP:0000925	Abnormality of the vertebral column	390594	KBTBD13	ORPHA:171439
HP:0000925	Abnormality of the vertebral column	23534	TNPO3	OMIM:608423
HP:0000925	Abnormality of the vertebral column	389827	MYMK	OMIM:254940
HP:0000925	Abnormality of the vertebral column	10290	SPEG	ORPHA:169186
HP:0000925	Abnormality of the vertebral column	7273	TTN	ORPHA:169186
HP:0000925	Abnormality of the vertebral column	57190	SELENON	ORPHA:97244
HP:0000925	Abnormality of the vertebral column	57190	SELENON	ORPHA:2020
HP:0000925	Abnormality of the vertebral column	8367	H4C5	OMIM:619950
HP:0000925	Abnormality of the vertebral column	60684	TRAPPC11	OMIM:615356
HP:0000925	Abnormality of the vertebral column	60684	TRAPPC11	ORPHA:369840
HP:0000925	Abnormality of the vertebral column	23394	ADNP	OMIM:615873
HP:0000925	Abnormality of the vertebral column	22947	DUX4L1	ORPHA:269
HP:0000925	Abnormality of the vertebral column	1789	DNMT3B	ORPHA:269
HP:0000925	Abnormality of the vertebral column	2483	FRG1	ORPHA:269
HP:0000925	Abnormality of the vertebral column	23347	SMCHD1	ORPHA:269
HP:0000925	Abnormality of the vertebral column	100288687	DUX4	ORPHA:269
HP:0000925	Abnormality of the vertebral column	8291	DYSF	ORPHA:268
HP:0000925	Abnormality of the vertebral column	825	CAPN3	ORPHA:267
HP:0000925	Abnormality of the vertebral column	825	CAPN3	OMIM:618129
HP:0000925	Abnormality of the vertebral column	613	BCR	ORPHA:261330
HP:0000925	Abnormality of the vertebral column	1399	CRKL	ORPHA:261330
HP:0000925	Abnormality of the vertebral column	5594	MAPK1	ORPHA:261330
HP:0000925	Abnormality of the vertebral column	55790	CSGALNACT1	OMIM:618870
HP:0000925	Abnormality of the vertebral column	1763	DNA2	ORPHA:352470
HP:0000925	Abnormality of the vertebral column	1763	DNA2	OMIM:615156
HP:0000925	Abnormality of the vertebral column	5818	NECTIN1	ORPHA:3253
HP:0000925	Abnormality of the vertebral column	6335	SCN9A	ORPHA:970
HP:0000925	Abnormality of the vertebral column	65125	WNK1	ORPHA:970
HP:0000925	Abnormality of the vertebral column	54463	RETREG1	ORPHA:970
HP:0000925	Abnormality of the vertebral column	547	KIF1A	ORPHA:970
HP:0000925	Abnormality of the vertebral column	84068	SLC10A7	OMIM:618363
HP:0000925	Abnormality of the vertebral column	4633	MYL2	ORPHA:2020
HP:0000925	Abnormality of the vertebral column	3679	ITGA7	ORPHA:2020
HP:0000925	Abnormality of the vertebral column	9200	HACD1	ORPHA:2020
HP:0000925	Abnormality of the vertebral column	51776	MAP3K20	ORPHA:2020
HP:0000925	Abnormality of the vertebral column	51776	MAP3K20	OMIM:617760
HP:0000925	Abnormality of the vertebral column	3188	HNRNPH2	OMIM:300986
HP:0000925	Abnormality of the vertebral column	57449	PLEKHG5	OMIM:611067
HP:0000925	Abnormality of the vertebral column	2218	FKTN	OMIM:611588
HP:0000925	Abnormality of the vertebral column	139285	AMER1	ORPHA:2780
HP:0000925	Abnormality of the vertebral column	8493	PPM1D	OMIM:617450
HP:0000925	Abnormality of the vertebral column	5293	PIK3CD	ORPHA:221139
HP:0000925	Abnormality of the vertebral column	90417	KNSTRN	ORPHA:221139
HP:0000925	Abnormality of the vertebral column	1785	DNM2	OMIM:160150
HP:0000925	Abnormality of the vertebral column	64419	MTMR14	OMIM:160150
HP:0000925	Abnormality of the vertebral column	8292	COLQ	OMIM:603034
HP:0000925	Abnormality of the vertebral column	3178	HNRNPA1	ORPHA:52430
HP:0000925	Abnormality of the vertebral column	3181	HNRNPA2B1	ORPHA:52430
HP:0000925	Abnormality of the vertebral column	7030	TFE3	OMIM:301066
HP:0000925	Abnormality of the vertebral column	9427	ECEL1	OMIM:615065
HP:0000925	Abnormality of the vertebral column	7227	TRPS1	OMIM:190350
HP:0000925	Abnormality of the vertebral column	7227	TRPS1	ORPHA:77258
HP:0000925	Abnormality of the vertebral column	284119	CAVIN1	OMIM:613327
HP:0000925	Abnormality of the vertebral column	6448	SGSH	OMIM:252900
HP:0000925	Abnormality of the vertebral column	4669	NAGLU	OMIM:252920
HP:0000925	Abnormality of the vertebral column	25839	COG4	OMIM:618150
HP:0000925	Abnormality of the vertebral column	25839	COG4	ORPHA:85172
HP:0000925	Abnormality of the vertebral column	9451	EIF2AK3	OMIM:226980
HP:0000925	Abnormality of the vertebral column	83452	RAB33B	OMIM:615222
HP:0000925	Abnormality of the vertebral column	7291	TWIST1	ORPHA:794
HP:0000925	Abnormality of the vertebral column	2263	FGFR2	ORPHA:794
HP:0000925	Abnormality of the vertebral column	7421	VDR	ORPHA:93160
HP:0000925	Abnormality of the vertebral column	6916	TBXAS1	ORPHA:1802
HP:0000925	Abnormality of the vertebral column	100996717	NOTCH2NLC	ORPHA:2289
HP:0000925	Abnormality of the vertebral column	2314	FLII	ORPHA:819
HP:0000925	Abnormality of the vertebral column	23096	IQSEC2	ORPHA:819
HP:0000925	Abnormality of the vertebral column	10743	RAI1	ORPHA:819
HP:0000925	Abnormality of the vertebral column	10522	DEAF1	ORPHA:819
HP:0000925	Abnormality of the vertebral column	324	APC	ORPHA:3258
HP:0000925	Abnormality of the vertebral column	64093	SMOC1	ORPHA:1106
HP:0000925	Abnormality of the vertebral column	2697	GJA1	ORPHA:2710
HP:0000925	Abnormality of the vertebral column	4313	MMP2	ORPHA:371428
HP:0000925	Abnormality of the vertebral column	1301	COL11A1	ORPHA:2021
HP:0000925	Abnormality of the vertebral column	9361	LONP1	ORPHA:1458
HP:0000925	Abnormality of the vertebral column	79600	TCTN1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	79848	CSPP1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	65250	CPLANE1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	91147	TMEM67	ORPHA:475
HP:0000925	Abnormality of the vertebral column	200894	ARL13B	ORPHA:475
HP:0000925	Abnormality of the vertebral column	9731	CEP104	ORPHA:475
HP:0000925	Abnormality of the vertebral column	219844	HYLS1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	23247	KATNIP	ORPHA:475
HP:0000925	Abnormality of the vertebral column	219854	TMEM218	ORPHA:475
HP:0000925	Abnormality of the vertebral column	9786	KIAA0586	ORPHA:475
HP:0000925	Abnormality of the vertebral column	79867	TCTN2	ORPHA:475
HP:0000925	Abnormality of the vertebral column	80776	B9D2	ORPHA:475
HP:0000925	Abnormality of the vertebral column	10464	PIBF1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	80210	ARMC9	ORPHA:475
HP:0000925	Abnormality of the vertebral column	25776	CBY1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	27077	B9D1	ORPHA:475
HP:0000925	Abnormality of the vertebral column	403	ARL3	ORPHA:475
HP:0000925	Abnormality of the vertebral column	65062	TMEM237	ORPHA:475
HP:0000925	Abnormality of the vertebral column	2260	FGFR1	ORPHA:2645
HP:0000925	Abnormality of the vertebral column	100151683	RNU4ATAC	ORPHA:2636
HP:0000925	Abnormality of the vertebral column	10262	SF3B4	ORPHA:1788
HP:0000925	Abnormality of the vertebral column	4352	MPL	ORPHA:3319
HP:0000925	Abnormality of the vertebral column	7066	THPO	ORPHA:3319
HP:0000925	Abnormality of the vertebral column	84168	ANTXR1	ORPHA:2067
HP:0000925	Abnormality of the vertebral column	79087	ALG12	OMIM:607143
HP:0000925	Abnormality of the vertebral column	55593	OTUD5	OMIM:301056
HP:0000925	Abnormality of the vertebral column	3911	LAMA5	OMIM:620076
HP:0000925	Abnormality of the vertebral column	6775	STAT4	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	3560	IL2RB	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	79722	ANKRD55	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	26191	PTPN22	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	919	CD247	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	3559	IL2RA	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	5771	PTPN2	ORPHA:85408
HP:0000925	Abnormality of the vertebral column	9907	AP5Z1	ORPHA:306511
HP:0000925	Abnormality of the vertebral column	1009	CDH11	ORPHA:1299
HP:0000925	Abnormality of the vertebral column	84905	ZNF341	OMIM:618282
HP:0000925	Abnormality of the vertebral column	22800	RRAS2	OMIM:618624
HP:0000925	Abnormality of the vertebral column	7276	TTR	ORPHA:85451
HP:0000925	Abnormality of the vertebral column	6905	TBCE	ORPHA:2323
HP:0000925	Abnormality of the vertebral column	8854	ALDH1A2	OMIM:620025
HP:0000925	Abnormality of the vertebral column	5191	PEX7	OMIM:215100
HP:0000925	Abnormality of the vertebral column	9321	TRIP11	OMIM:184260
HP:0000925	Abnormality of the vertebral column	3313	HSPA9	OMIM:616854
HP:0000925	Abnormality of the vertebral column	540	ATP7B	ORPHA:905
HP:0000925	Abnormality of the vertebral column	4771	NF2	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	6598	SMARCB1	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	5155	PDGFB	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	84231	TRAF7	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	6608	SMO	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	7015	TERT	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	6605	SMARCE1	ORPHA:2495
HP:0000925	Abnormality of the vertebral column	5589	PRKCSH	OMIM:174050
HP:0000925	Abnormality of the vertebral column	5589	PRKCSH	ORPHA:2924
HP:0000925	Abnormality of the vertebral column	56606	SLC2A9	ORPHA:94088
HP:0000925	Abnormality of the vertebral column	116085	SLC22A12	ORPHA:94088
HP:0000925	Abnormality of the vertebral column	3075	CFH	ORPHA:244242
HP:0000925	Abnormality of the vertebral column	3426	CFI	ORPHA:244242
HP:0000925	Abnormality of the vertebral column	4179	CD46	ORPHA:244242
HP:0000925	Abnormality of the vertebral column	101101692	HELLPAR	ORPHA:244242
HP:0000925	Abnormality of the vertebral column	11231	SEC63	ORPHA:2924
HP:0000925	Abnormality of the vertebral column	7428	VHL	ORPHA:892
HP:0000925	Abnormality of the vertebral column	595	CCND1	ORPHA:892
HP:0000925	Abnormality of the vertebral column	215	ABCD1	ORPHA:139399
HP:0000925	Abnormality of the vertebral column	5921	RASA1	ORPHA:90307
HP:0000925	Abnormality of the vertebral column	672	BRCA1	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	285282	RABL3	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	7157	TP53	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	675	BRCA2	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	1029	CDKN2A	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	79728	PALB2	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	23022	PALLD	ORPHA:1333
HP:0000925	Abnormality of the vertebral column	1371	CPOX	ORPHA:79273
HP:0000925	Abnormality of the vertebral column	9096	TBX18	OMIM:143400
HP:0000925	Abnormality of the vertebral column	5498	PPOX	ORPHA:79473
HP:0000925	Abnormality of the vertebral column	3145	HMBS	ORPHA:79276
HP:0000925	Abnormality of the vertebral column	4665	NAB2	ORPHA:2126
HP:0000925	Abnormality of the vertebral column	6778	STAT6	ORPHA:2126
HP:0000925	Abnormality of the vertebral column	311	ANXA11	OMIM:619733
HP:0000925	Abnormality of the vertebral column	6683	SPAST	OMIM:182601
HP:0000925	Abnormality of the vertebral column	7486	WRN	OMIM:277700
HP:0000925	Abnormality of the vertebral column	4803	NGF	OMIM:608654
HP:0000925	Abnormality of the vertebral column	84188	FAR1	ORPHA:447753
HP:0000925	Abnormality of the vertebral column	341640	FREM2	ORPHA:2052
HP:0000925	Abnormality of the vertebral column	80144	FRAS1	ORPHA:2052
HP:0000925	Abnormality of the vertebral column	23426	GRIP1	ORPHA:2052
HP:0000925	Abnormality of the vertebral column	3265	HRAS	ORPHA:2612
HP:0000925	Abnormality of the vertebral column	3845	KRAS	ORPHA:2612
HP:0000925	Abnormality of the vertebral column	4893	NRAS	ORPHA:2612
HP:0000925	Abnormality of the vertebral column	1131	CHRM3	ORPHA:2970
HP:0000925	Abnormality of the vertebral column	8318	CDC45	OMIM:617063
HP:0000925	Abnormality of the vertebral column	7140	TNNT3	ORPHA:1147
HP:0000925	Abnormality of the vertebral column	259232	NALCN	ORPHA:1147
HP:0000925	Abnormality of the vertebral column	7136	TNNI2	ORPHA:1147
HP:0000925	Abnormality of the vertebral column	3239	HOXD13	ORPHA:887
HP:0000925	Abnormality of the vertebral column	4281	MID1	ORPHA:2745
HP:0000925	Abnormality of the vertebral column	4921	DDR2	OMIM:271665
HP:0000925	Abnormality of the vertebral column	55033	FKBP14	OMIM:614557
HP:0000925	Abnormality of the vertebral column	2623	GATA1	OMIM:190685
HP:0000925	Abnormality of the vertebral column	5476	CTSA	ORPHA:351
HP:0000925	Abnormality of the vertebral column	23233	EXOC6B	ORPHA:93359
HP:0000925	Abnormality of the vertebral column	126792	B3GALT6	ORPHA:93359
HP:0000925	Abnormality of the vertebral column	91754	NEK9	ORPHA:64754
HP:0000925	Abnormality of the vertebral column	23028	KDM1A	OMIM:616728
HP:0000925	Abnormality of the vertebral column	3425	IDUA	ORPHA:93473
HP:0000925	Abnormality of the vertebral column	3425	IDUA	ORPHA:93476
HP:0000925	Abnormality of the vertebral column	5745	PTH1R	OMIM:215045
HP:0000925	Abnormality of the vertebral column	28514	DLL1	OMIM:618709
HP:0000925	Abnormality of the vertebral column	28514	DLL1	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	27125	AFF4	ORPHA:444077
HP:0000925	Abnormality of the vertebral column	78989	COLEC11	OMIM:265050
HP:0000925	Abnormality of the vertebral column	7547	ZIC3	OMIM:314390
HP:0000925	Abnormality of the vertebral column	26275	HIBCH	ORPHA:88639
HP:0000925	Abnormality of the vertebral column	26275	HIBCH	OMIM:250620
HP:0000925	Abnormality of the vertebral column	2253	FGF8	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	6496	SIX3	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	7050	TGIF1	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	4838	NODAL	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	6469	SHH	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	7546	ZIC2	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	6491	STIL	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	2619	GAS1	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	84976	DISP1	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	2736	GLI2	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	8928	FOXH1	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	50937	CDON	ORPHA:280195
HP:0000925	Abnormality of the vertebral column	54806	AHI1	ORPHA:220493
HP:0000925	Abnormality of the vertebral column	56623	INPP5E	ORPHA:220493
HP:0000925	Abnormality of the vertebral column	153241	CEP120	ORPHA:220493
HP:0000925	Abnormality of the vertebral column	54903	MKS1	ORPHA:220493
HP:0000925	Abnormality of the vertebral column	95681	CEP41	ORPHA:220493
HP:0000925	Abnormality of the vertebral column	6299	SALL1	ORPHA:857
HP:0000925	Abnormality of the vertebral column	51339	DACT1	ORPHA:857
HP:0000925	Abnormality of the vertebral column	84919	PPP1R15B	OMIM:616817
HP:0000925	Abnormality of the vertebral column	90	ACVR1	ORPHA:337
HP:0000925	Abnormality of the vertebral column	3423	IDS	ORPHA:217093
HP:0000925	Abnormality of the vertebral column	3423	IDS	ORPHA:217085
HP:0000925	Abnormality of the vertebral column	157570	ESCO2	ORPHA:2319
HP:0000925	Abnormality of the vertebral column	6910	TBX5	OMIM:142900
HP:0000925	Abnormality of the vertebral column	9401	RECQL4	OMIM:218600
HP:0000925	Abnormality of the vertebral column	2294	FOXF1	ORPHA:210122
HP:0000925	Abnormality of the vertebral column	10815	CPLX1	ORPHA:280
HP:0000925	Abnormality of the vertebral column	54872	PIGG	ORPHA:280
HP:0000925	Abnormality of the vertebral column	7469	NELFA	ORPHA:280
HP:0000925	Abnormality of the vertebral column	1487	CTBP1	ORPHA:280
HP:0000925	Abnormality of the vertebral column	3954	LETM1	ORPHA:280
HP:0000925	Abnormality of the vertebral column	7468	NSD2	ORPHA:280
HP:0000925	Abnormality of the vertebral column	25970	SH2B1	ORPHA:261197
HP:0000925	Abnormality of the vertebral column	175	AGA	ORPHA:93
HP:0000925	Abnormality of the vertebral column	374654	KIF7	ORPHA:166024
HP:0000925	Abnormality of the vertebral column	6862	TBXT	OMIM:615709
HP:0000925	Abnormality of the vertebral column	57647	DHX37	OMIM:618731
HP:0000925	Abnormality of the vertebral column	2720	GLB1	ORPHA:79255
HP:0000925	Abnormality of the vertebral column	79158	GNPTAB	OMIM:252500
HP:0000925	Abnormality of the vertebral column	4763	NF1	ORPHA:97685
HP:0000925	Abnormality of the vertebral column	2137	EXTL3	ORPHA:508533
HP:0000925	Abnormality of the vertebral column	51025	PAM16	OMIM:613320
HP:0000925	Abnormality of the vertebral column	2261	FGFR3	OMIM:187600
HP:0000925	Abnormality of the vertebral column	2261	FGFR3	OMIM:100800
HP:0000925	Abnormality of the vertebral column	3636	INPPL1	OMIM:258480
HP:0000925	Abnormality of the vertebral column	5130	PCYT1A	OMIM:608940
HP:0000925	Abnormality of the vertebral column	4041	LRP5	OMIM:259770
HP:0000925	Abnormality of the vertebral column	1280	COL2A1	OMIM:151210
HP:0000925	Abnormality of the vertebral column	4322	MMP13	OMIM:602111
HP:0000925	Abnormality of the vertebral column	4322	MMP13	ORPHA:93356
HP:0000925	Abnormality of the vertebral column	60561	RINT1	OMIM:618641
HP:0000925	Abnormality of the vertebral column	153642	ARSK	OMIM:619698
HP:0000925	Abnormality of the vertebral column	92344	GORAB	ORPHA:2078
HP:0000925	Abnormality of the vertebral column	92344	GORAB	OMIM:231070
HP:0000925	Abnormality of the vertebral column	5831	PYCR1	ORPHA:2078
HP:0000925	Abnormality of the vertebral column	285590	SH3PXD2B	ORPHA:137834
HP:0000925	Abnormality of the vertebral column	138050	HGSNAT	OMIM:252930
HP:0000925	Abnormality of the vertebral column	5176	SERPINF1	OMIM:613982
HP:0000925	Abnormality of the vertebral column	25871	NEPRO	OMIM:618853
HP:0000925	Abnormality of the vertebral column	9820	CUL7	ORPHA:2616
HP:0000925	Abnormality of the vertebral column	9820	CUL7	OMIM:273750
HP:0000925	Abnormality of the vertebral column	83987	CCDC8	ORPHA:2616
HP:0000925	Abnormality of the vertebral column	83987	CCDC8	OMIM:614205
HP:0000925	Abnormality of the vertebral column	4125	MAN2B1	OMIM:248500
HP:0000925	Abnormality of the vertebral column	2733	GLE1	OMIM:253310
HP:0000925	Abnormality of the vertebral column	50964	SOST	OMIM:269500
HP:0000925	Abnormality of the vertebral column	1758	DMP1	ORPHA:289176
HP:0000925	Abnormality of the vertebral column	5167	ENPP1	ORPHA:289176
HP:0000925	Abnormality of the vertebral column	1186	CLCN7	OMIM:611490
HP:0000925	Abnormality of the vertebral column	8838	CCN6	OMIM:208230
HP:0000925	Abnormality of the vertebral column	79705	LRRK1	OMIM:615198
HP:0000925	Abnormality of the vertebral column	55603	TENT5A	OMIM:617952
HP:0000925	Abnormality of the vertebral column	25886	POC1A	OMIM:614813
HP:0000925	Abnormality of the vertebral column	8626	TP63	OMIM:604292
HP:0000925	Abnormality of the vertebral column	55112	DYNC2I1	ORPHA:93271
HP:0000925	Abnormality of the vertebral column	57560	IFT80	ORPHA:93271
HP:0000925	Abnormality of the vertebral column	89891	DYNC2I2	ORPHA:93271
HP:0000925	Abnormality of the vertebral column	7862	BRPF1	OMIM:617333
HP:0000925	Abnormality of the vertebral column	53335	BCL11A	OMIM:617101
HP:0000925	Abnormality of the vertebral column	9842	PLEKHM1	ORPHA:210110
HP:0000925	Abnormality of the vertebral column	10533	ATG7	OMIM:619422
HP:0000925	Abnormality of the vertebral column	4509	MT-ATP8	ORPHA:480
HP:0000925	Abnormality of the vertebral column	4567	MT-TL1	ORPHA:480
HP:0000925	Abnormality of the vertebral column	50484	RRM2B	ORPHA:480
HP:0000925	Abnormality of the vertebral column	51199	NIN	OMIM:614851
HP:0000925	Abnormality of the vertebral column	51199	NIN	ORPHA:319675
HP:0000925	Abnormality of the vertebral column	3373	HYAL1	OMIM:601492
HP:0000925	Abnormality of the vertebral column	3764	KCNJ8	ORPHA:1517
HP:0000925	Abnormality of the vertebral column	8022	LHX3	ORPHA:226307
HP:0000925	Abnormality of the vertebral column	9215	LARGE1	ORPHA:370968
HP:0000925	Abnormality of the vertebral column	2077	ERF	ORPHA:207
HP:0000925	Abnormality of the vertebral column	8516	ITGA8	ORPHA:1848
HP:0000925	Abnormality of the vertebral column	26281	FGF20	ORPHA:1848
HP:0000925	Abnormality of the vertebral column	2674	GFRA1	ORPHA:1848
HP:0000925	Abnormality of the vertebral column	7484	WNT9B	ORPHA:1848
HP:0000925	Abnormality of the vertebral column	80000	GREB1L	ORPHA:1848
HP:0000925	Abnormality of the vertebral column	8036	SHOC2	ORPHA:2701
HP:0000925	Abnormality of the vertebral column	5500	PPP1CB	ORPHA:2701
HP:0000925	Abnormality of the vertebral column	51002	TPRKB	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	84942	WDR73	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	55644	OSGEP	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	10785	WDR4	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	55746	NUP133	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	112858	TP53RK	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	8270	LAGE3	ORPHA:2065
HP:0000925	Abnormality of the vertebral column	116931	MED12L	OMIM:618872
HP:0000925	Abnormality of the vertebral column	23219	FBXO28	OMIM:619777
HP:0000925	Abnormality of the vertebral column	55733	HHAT	OMIM:600092
HP:0000925	Abnormality of the vertebral column	29893	PSMC3IP	ORPHA:243
HP:0000925	Abnormality of the vertebral column	171568	POLR3H	ORPHA:243
HP:0000925	Abnormality of the vertebral column	2516	NR5A1	ORPHA:243
HP:0000925	Abnormality of the vertebral column	125150	ZSWIM7	ORPHA:243
HP:0000925	Abnormality of the vertebral column	9210	BMP15	ORPHA:243
HP:0000925	Abnormality of the vertebral column	57122	NUP107	ORPHA:243
HP:0000925	Abnormality of the vertebral column	23514	SPIDR	ORPHA:243
HP:0000925	Abnormality of the vertebral column	2492	FSHR	ORPHA:243
HP:0000925	Abnormality of the vertebral column	56945	MRPS22	ORPHA:243
HP:0000925	Abnormality of the vertebral column	646	BNC1	ORPHA:243
HP:0000925	Abnormality of the vertebral column	5626	PROP1	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	5626	PROP1	ORPHA:90695
HP:0000925	Abnormality of the vertebral column	89884	LHX4	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	3170	FOXA2	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	5449	POU1F1	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	8820	HESX1	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	5015	OTX2	ORPHA:95494
HP:0000925	Abnormality of the vertebral column	860	RUNX2	OMIM:156510
HP:0000925	Abnormality of the vertebral column	6658	SOX3	ORPHA:90695
HP:0000925	Abnormality of the vertebral column	9935	MAFB	ORPHA:233
HP:0000925	Abnormality of the vertebral column	1123	CHN1	ORPHA:233
HP:0000925	Abnormality of the vertebral column	392255	GDF6	ORPHA:2345
HP:0000925	Abnormality of the vertebral column	392255	GDF6	OMIM:118100
HP:0000925	Abnormality of the vertebral column	168667	BMPER	ORPHA:66637
HP:0000925	Abnormality of the vertebral column	2245	FGD1	ORPHA:915
HP:0000925	Abnormality of the vertebral column	4907	NT5E	OMIM:211800
HP:0000925	Abnormality of the vertebral column	1297	COL9A1	OMIM:614135
HP:0000925	Abnormality of the vertebral column	83932	SPRTN	OMIM:616200
HP:0000925	Abnormality of the vertebral column	579	NKX3-2	OMIM:613330
HP:0000925	Abnormality of the vertebral column	1674	DES	ORPHA:98909
HP:0000925	Abnormality of the vertebral column	4000	LMNA	ORPHA:1662
HP:0000925	Abnormality of the vertebral column	10269	ZMPSTE24	ORPHA:1662
HP:0000925	Abnormality of the vertebral column	55699	IARS2	ORPHA:436174
HP:0000925	Abnormality of the vertebral column	57211	ADGRG6	OMIM:616503
HP:0000925	Abnormality of the vertebral column	29920	PYCR2	ORPHA:481152
HP:0000925	Abnormality of the vertebral column	6329	SCN4A	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	1305	COL13A1	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	1140	CHRNB1	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	1145	CHRNE	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	4593	MUSK	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	5913	RAPSN	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	375790	AGRN	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	221264	AK9	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	285489	DOK7	ORPHA:98913
HP:0000925	Abnormality of the vertebral column	64802	NMNAT1	OMIM:619260
HP:0000925	Abnormality of the vertebral column	5832	ALDH18A1	OMIM:616603
HP:0000925	Abnormality of the vertebral column	5331	PLCB3	OMIM:618961
HP:0000925	Abnormality of the vertebral column	79879	CCDC134	OMIM:619795
HP:0000925	Abnormality of the vertebral column	10220	GDF11	OMIM:619122
HP:0000925	Abnormality of the vertebral column	4087	SMAD2	OMIM:619656
HP:0000925	Abnormality of the vertebral column	112752	IFT43	OMIM:617866
HP:0000925	Abnormality of the vertebral column	387733	IFITM5	OMIM:610967
HP:0000925	Abnormality of the vertebral column	249	ALPL	OMIM:241500
HP:0000925	Abnormality of the vertebral column	347734	SLC35B2	OMIM:620269
HP:0000925	Abnormality of the vertebral column	23126	POGZ	OMIM:616364
HP:0000925	Abnormality of the vertebral column	10606	PAICS	OMIM:619859
HP:0000925	Abnormality of the vertebral column	1984	EIF5A	OMIM:619376
HP:0000925	Abnormality of the vertebral column	5251	PHEX	ORPHA:89936
HP:0000925	Abnormality of the vertebral column	2131	EXT1	ORPHA:321
HP:0000925	Abnormality of the vertebral column	2132	EXT2	ORPHA:321
HP:0000925	Abnormality of the vertebral column	54332	GDAP1	OMIM:607706
HP:0000925	Abnormality of the vertebral column	54332	GDAP1	ORPHA:99948
HP:0000925	Abnormality of the vertebral column	79628	SH3TC2	ORPHA:99949
HP:0000925	Abnormality of the vertebral column	10020	GNE	ORPHA:3166
HP:0000925	Abnormality of the vertebral column	57231	SNX14	ORPHA:397709
HP:0000925	Abnormality of the vertebral column	10484	SEC23A	OMIM:607812
HP:0000925	Abnormality of the vertebral column	10484	SEC23A	ORPHA:50814
HP:0000925	Abnormality of the vertebral column	80036	TRPM3	OMIM:620224
HP:0000925	Abnormality of the vertebral column	4773	NFATC2	OMIM:620232
HP:0000925	Abnormality of the vertebral column	1182	CLCN3	OMIM:619512
HP:0000925	Abnormality of the vertebral column	10236	HNRNPR	OMIM:620073
HP:0000925	Abnormality of the vertebral column	2201	FBN2	OMIM:121050
HP:0000925	Abnormality of the vertebral column	2201	FBN2	ORPHA:115
HP:0000925	Abnormality of the vertebral column	55719	SLF2	OMIM:620184
HP:0000925	Abnormality of the vertebral column	4853	NOTCH2	OMIM:102500
HP:0000925	Abnormality of the vertebral column	10735	STAG2	OMIM:301043
HP:0000925	Abnormality of the vertebral column	3021	H3-3B	OMIM:619721
HP:0000925	Abnormality of the vertebral column	6872	TAF1	ORPHA:480907
HP:0000925	Abnormality of the vertebral column	6872	TAF1	OMIM:300966
HP:0000925	Abnormality of the vertebral column	6223	RPS19	OMIM:105650
HP:0000925	Abnormality of the vertebral column	11128	POLR3A	ORPHA:3455
HP:0000925	Abnormality of the vertebral column	84295	PHF6	OMIM:301900
HP:0000925	Abnormality of the vertebral column	5573	PRKAR1A	ORPHA:280651
HP:0000925	Abnormality of the vertebral column	5573	PRKAR1A	OMIM:101800
HP:0000925	Abnormality of the vertebral column	5144	PDE4D	ORPHA:280651
HP:0000925	Abnormality of the vertebral column	10312	TCIRG1	ORPHA:1782
HP:0000925	Abnormality of the vertebral column	55315	SLC29A3	ORPHA:1782
HP:0000925	Abnormality of the vertebral column	8792	TNFRSF11A	ORPHA:1782
HP:0000925	Abnormality of the vertebral column	23169	SLC35D1	ORPHA:3144
HP:0000925	Abnormality of the vertebral column	285362	SUMF1	OMIM:272200
HP:0000925	Abnormality of the vertebral column	5654	HTRA1	ORPHA:199354
HP:0000925	Abnormality of the vertebral column	57216	VANGL2	OMIM:182940
HP:0000925	Abnormality of the vertebral column	6347	CCL2	OMIM:182940
HP:0000925	Abnormality of the vertebral column	81839	VANGL1	OMIM:182940
HP:0000925	Abnormality of the vertebral column	80199	FUZ	OMIM:182940
HP:0000925	Abnormality of the vertebral column	6913	TBX15	OMIM:260660
HP:0000925	Abnormality of the vertebral column	23498	HAAO	OMIM:617660
HP:0000925	Abnormality of the vertebral column	4088	SMAD3	OMIM:613795
HP:0000925	Abnormality of the vertebral column	7046	TGFBR1	OMIM:609192
HP:0000925	Abnormality of the vertebral column	10940	POP1	OMIM:617396
HP:0000925	Abnormality of the vertebral column	7043	TGFB3	OMIM:615582
HP:0000925	Abnormality of the vertebral column	1387	CREBBP	ORPHA:353277
HP:0000925	Abnormality of the vertebral column	1387	CREBBP	ORPHA:353281
HP:0000925	Abnormality of the vertebral column	2006	ELN	ORPHA:90348
HP:0000925	Abnormality of the vertebral column	10516	FBLN5	ORPHA:90348
HP:0000925	Abnormality of the vertebral column	3835	KIF22	ORPHA:93360
HP:0000925	Abnormality of the vertebral column	2033	EP300	ORPHA:353284
HP:0000925	Abnormality of the vertebral column	246329	STAC3	ORPHA:168572
HP:0000925	Abnormality of the vertebral column	6711	SPTBN1	OMIM:619475
HP:0000925	Abnormality of the vertebral column	25914	RTTN	ORPHA:468631
HP:0000925	Abnormality of the vertebral column	6899	TBX1	OMIM:188400
HP:0000925	Abnormality of the vertebral column	2176	FANCC	OMIM:227645
HP:0000925	Abnormality of the vertebral column	8567	MADD	OMIM:619004
HP:0000925	Abnormality of the vertebral column	79639	TMEM53	OMIM:619727
HP:0000925	Abnormality of the vertebral column	3110	MNX1	ORPHA:1552
HP:0000925	Abnormality of the vertebral column	26040	SETBP1	OMIM:269150
HP:0000925	Abnormality of the vertebral column	26040	SETBP1	ORPHA:798
HP:0000925	Abnormality of the vertebral column	64324	NSD1	ORPHA:821
HP:0000925	Abnormality of the vertebral column	29072	SETD2	ORPHA:821
HP:0000925	Abnormality of the vertebral column	10297	APC2	ORPHA:821
HP:0000925	Abnormality of the vertebral column	8651	SOCS1	OMIM:619375
HP:0000925	Abnormality of the vertebral column	23592	LEMD3	ORPHA:166119
HP:0000925	Abnormality of the vertebral column	7473	WNT3	ORPHA:3301
HP:0000925	Abnormality of the vertebral column	340419	RSPO2	ORPHA:3301
HP:0000925	Abnormality of the vertebral column	111	ADCY5	OMIM:606703
HP:0000925	Abnormality of the vertebral column	27235	COQ2	ORPHA:227510
HP:0000925	Abnormality of the vertebral column	27235	COQ2	ORPHA:98933
HP:0000925	Abnormality of the vertebral column	10463	SLC30A9	OMIM:617595
HP:0000925	Abnormality of the vertebral column	6309	SC5D	ORPHA:46059
HP:0000925	Abnormality of the vertebral column	2313	FLI1	ORPHA:370348
HP:0000925	Abnormality of the vertebral column	4914	NTRK1	ORPHA:642
HP:0000925	Abnormality of the vertebral column	117581	TWIST2	ORPHA:1807
HP:0000925	Abnormality of the vertebral column	7132	TNFRSF1A	ORPHA:32960
HP:0000925	Abnormality of the vertebral column	57020	VPS35L	OMIM:619135
HP:0000926	Platyspondyly	176	ACAN	ORPHA:93283
HP:0000926	Platyspondyly	176	ACAN	OMIM:608361
HP:0000926	Platyspondyly	176	ACAN	OMIM:612813
HP:0000926	Platyspondyly	6399	TRAPPC2	ORPHA:93284
HP:0000926	Platyspondyly	6399	TRAPPC2	OMIM:313400
HP:0000926	Platyspondyly	9131	AIFM1	OMIM:300232
HP:0000926	Platyspondyly	4750	NEK1	OMIM:263520
HP:0000926	Platyspondyly	8838	CCN6	OMIM:208230
HP:0000926	Platyspondyly	8838	CCN6	ORPHA:1159
HP:0000926	Platyspondyly	2720	GLB1	OMIM:230600
HP:0000926	Platyspondyly	2720	GLB1	OMIM:253010
HP:0000926	Platyspondyly	2720	GLB1	OMIM:230650
HP:0000926	Platyspondyly	2720	GLB1	ORPHA:79255
HP:0000926	Platyspondyly	755	CFAP410	OMIM:602271
HP:0000926	Platyspondyly	538	ATP7A	OMIM:304150
HP:0000926	Platyspondyly	538	ATP7A	ORPHA:198
HP:0000926	Platyspondyly	5352	PLOD2	OMIM:609220
HP:0000926	Platyspondyly	5352	PLOD2	ORPHA:2771
HP:0000926	Platyspondyly	4125	MAN2B1	ORPHA:309282
HP:0000926	Platyspondyly	249	ALPL	OMIM:241500
HP:0000926	Platyspondyly	2317	FLNB	ORPHA:1190
HP:0000926	Platyspondyly	79639	TMEM53	OMIM:619727
HP:0000926	Platyspondyly	3764	KCNJ8	ORPHA:1517
HP:0000926	Platyspondyly	10060	ABCC9	ORPHA:1517
HP:0000926	Platyspondyly	10060	ABCC9	OMIM:239850
HP:0000926	Platyspondyly	64175	P3H1	OMIM:610915
HP:0000926	Platyspondyly	1300	COL10A1	ORPHA:174
HP:0000926	Platyspondyly	1300	COL10A1	OMIM:156500
HP:0000926	Platyspondyly	1301	COL11A1	OMIM:154780
HP:0000926	Platyspondyly	1301	COL11A1	OMIM:228520
HP:0000926	Platyspondyly	1301	COL11A1	ORPHA:250984
HP:0000926	Platyspondyly	54	ACP5	OMIM:607944
HP:0000926	Platyspondyly	54	ACP5	ORPHA:1855
HP:0000926	Platyspondyly	5745	PTH1R	ORPHA:296
HP:0000926	Platyspondyly	5745	PTH1R	ORPHA:50945
HP:0000926	Platyspondyly	3418	IDH2	ORPHA:296
HP:0000926	Platyspondyly	3417	IDH1	ORPHA:296
HP:0000926	Platyspondyly	3417	IDH1	ORPHA:99646
HP:0000926	Platyspondyly	51360	MBTPS2	ORPHA:2273
HP:0000926	Platyspondyly	60561	RINT1	OMIM:618641
HP:0000926	Platyspondyly	90993	CREB3L1	OMIM:616229
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:113500
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:184252
HP:0000926	Platyspondyly	59341	TRPV4	ORPHA:93314
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:156530
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:617383
HP:0000926	Platyspondyly	59341	TRPV4	ORPHA:93304
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:184095
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:184840
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:614524
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:215150
HP:0000926	Platyspondyly	1302	COL11A2	ORPHA:1427
HP:0000926	Platyspondyly	633	BGN	OMIM:300106
HP:0000926	Platyspondyly	649	BMP1	OMIM:614856
HP:0000926	Platyspondyly	64132	XYLT2	ORPHA:85194
HP:0000926	Platyspondyly	64132	XYLT2	OMIM:605822
HP:0000926	Platyspondyly	4322	MMP13	OMIM:602111
HP:0000926	Platyspondyly	5593	PRKG2	OMIM:619638
HP:0000926	Platyspondyly	5593	PRKG2	OMIM:619636
HP:0000926	Platyspondyly	10013	HDAC6	ORPHA:163966
HP:0000926	Platyspondyly	10013	HDAC6	OMIM:300863
HP:0000926	Platyspondyly	4952	OCRL	OMIM:309000
HP:0000926	Platyspondyly	4952	OCRL	ORPHA:534
HP:0000926	Platyspondyly	1311	COMP	OMIM:177170
HP:0000926	Platyspondyly	1311	COMP	ORPHA:750
HP:0000926	Platyspondyly	4089	SMAD4	OMIM:139210
HP:0000926	Platyspondyly	4089	SMAD4	ORPHA:2588
HP:0000926	Platyspondyly	9321	TRIP11	OMIM:184260
HP:0000926	Platyspondyly	9321	TRIP11	ORPHA:166272
HP:0000926	Platyspondyly	50485	SMARCAL1	ORPHA:1830
HP:0000926	Platyspondyly	50485	SMARCAL1	OMIM:242900
HP:0000926	Platyspondyly	2316	FLNA	OMIM:304120
HP:0000926	Platyspondyly	3911	LAMA5	OMIM:620076
HP:0000926	Platyspondyly	124583	CANT1	OMIM:251450
HP:0000926	Platyspondyly	124583	CANT1	OMIM:617719
HP:0000926	Platyspondyly	5373	PMM2	ORPHA:79318
HP:0000926	Platyspondyly	2260	FGFR1	OMIM:166250
HP:0000926	Platyspondyly	3339	HSPG2	OMIM:255800
HP:0000926	Platyspondyly	3339	HSPG2	ORPHA:800
HP:0000926	Platyspondyly	100151683	RNU4ATAC	ORPHA:1824
HP:0000926	Platyspondyly	100151683	RNU4ATAC	OMIM:210710
HP:0000926	Platyspondyly	387733	IFITM5	OMIM:610967
HP:0000926	Platyspondyly	91252	SLC39A13	ORPHA:157965
HP:0000926	Platyspondyly	91252	SLC39A13	OMIM:612350
HP:0000926	Platyspondyly	1297	COL9A1	ORPHA:250984
HP:0000926	Platyspondyly	1298	COL9A2	ORPHA:250984
HP:0000926	Platyspondyly	1299	COL9A3	ORPHA:250984
HP:0000926	Platyspondyly	84695	LOXL3	ORPHA:250984
HP:0000926	Platyspondyly	54808	DYM	ORPHA:239
HP:0000926	Platyspondyly	54808	DYM	OMIM:607326
HP:0000926	Platyspondyly	54808	DYM	OMIM:223800
HP:0000926	Platyspondyly	2879	GPX4	OMIM:250220
HP:0000926	Platyspondyly	2879	GPX4	ORPHA:93317
HP:0000926	Platyspondyly	4921	DDR2	OMIM:271665
HP:0000926	Platyspondyly	5351	PLOD1	OMIM:225400
HP:0000926	Platyspondyly	2335	FN1	ORPHA:93315
HP:0000926	Platyspondyly	89970	RSPRY1	OMIM:616723
HP:0000926	Platyspondyly	89970	RSPRY1	ORPHA:457395
HP:0000926	Platyspondyly	4054	LTBP3	OMIM:601216
HP:0000926	Platyspondyly	1436	CSF1R	OMIM:618476
HP:0000926	Platyspondyly	9871	SEC24D	OMIM:616294
HP:0000926	Platyspondyly	153642	ARSK	OMIM:619698
HP:0000926	Platyspondyly	64131	XYLT1	OMIM:615777
HP:0000926	Platyspondyly	92344	GORAB	OMIM:231070
HP:0000926	Platyspondyly	92344	GORAB	ORPHA:2078
HP:0000926	Platyspondyly	6678	SPARC	OMIM:616507
HP:0000926	Platyspondyly	9451	EIF2AK3	OMIM:226980
HP:0000926	Platyspondyly	8985	PLOD3	OMIM:612394
HP:0000926	Platyspondyly	6023	RMRP	OMIM:607095
HP:0000926	Platyspondyly	175	AGA	OMIM:208400
HP:0000926	Platyspondyly	3835	KIF22	ORPHA:93360
HP:0000926	Platyspondyly	6424	SFRP4	OMIM:265900
HP:0000926	Platyspondyly	2588	GALNS	OMIM:253000
HP:0000926	Platyspondyly	23233	EXOC6B	ORPHA:93359
HP:0000926	Platyspondyly	23233	EXOC6B	OMIM:618395
HP:0000926	Platyspondyly	126792	B3GALT6	ORPHA:93359
HP:0000926	Platyspondyly	126792	B3GALT6	OMIM:271640
HP:0000926	Platyspondyly	126792	B3GALT6	ORPHA:536467
HP:0000926	Platyspondyly	126792	B3GALT6	OMIM:615349
HP:0000926	Platyspondyly	55325	UFSP2	OMIM:617974
HP:0000926	Platyspondyly	29957	SLC25A24	OMIM:612289
HP:0000926	Platyspondyly	60681	FKBP10	ORPHA:2771
HP:0000926	Platyspondyly	60681	FKBP10	OMIM:259450
HP:0000926	Platyspondyly	9060	PAPSS2	OMIM:612847
HP:0000926	Platyspondyly	4796	TONSL	ORPHA:93357
HP:0000926	Platyspondyly	4796	TONSL	OMIM:271510
HP:0000926	Platyspondyly	4148	MATN3	OMIM:608728
HP:0000926	Platyspondyly	25839	COG4	OMIM:618150
HP:0000926	Platyspondyly	25839	COG4	ORPHA:85172
HP:0000926	Platyspondyly	112752	IFT43	OMIM:617866
HP:0000926	Platyspondyly	202018	TAPT1	OMIM:616897
HP:0000926	Platyspondyly	28957	MRPS28	OMIM:618958
HP:0000926	Platyspondyly	23169	SLC35D1	OMIM:269250
HP:0000926	Platyspondyly	1836	SLC26A2	OMIM:256050
HP:0000926	Platyspondyly	11014	KDELR2	OMIM:619131
HP:0000926	Platyspondyly	100	ADA	OMIM:102700
HP:0000926	Platyspondyly	2990	GUSB	OMIM:253220
HP:0000926	Platyspondyly	6137	RPL13	OMIM:618728
HP:0000926	Platyspondyly	10312	TCIRG1	ORPHA:1782
HP:0000926	Platyspondyly	55315	SLC29A3	ORPHA:1782
HP:0000926	Platyspondyly	8792	TNFRSF11A	ORPHA:1782
HP:0000926	Platyspondyly	54187	NANS	OMIM:610442
HP:0000926	Platyspondyly	5831	PYCR1	ORPHA:2078
HP:0000926	Platyspondyly	5479	PPIB	OMIM:259440
HP:0000926	Platyspondyly	166929	SGMS2	OMIM:126550
HP:0000926	Platyspondyly	9469	CHST3	OMIM:245600
HP:0000926	Platyspondyly	26229	B3GAT3	OMIM:245600
HP:0000926	Platyspondyly	860	RUNX2	OMIM:156510
HP:0000926	Platyspondyly	375056	MIA3	OMIM:619269
HP:0000926	Platyspondyly	83452	RAB33B	OMIM:615222
HP:0000926	Platyspondyly	7471	WNT1	OMIM:615220
HP:0000926	Platyspondyly	25871	NEPRO	OMIM:618853
HP:0000926	Platyspondyly	871	SERPINH1	OMIM:613848
HP:0000926	Platyspondyly	1277	COL1A1	OMIM:166220
HP:0000926	Platyspondyly	1277	COL1A1	OMIM:166200
HP:0000926	Platyspondyly	1278	COL1A2	OMIM:166220
HP:0000926	Platyspondyly	2517	FUCA1	OMIM:230000
HP:0000926	Platyspondyly	57647	DHX37	OMIM:618731
HP:0000926	Platyspondyly	2137	EXTL3	ORPHA:508533
HP:0000926	Platyspondyly	51025	PAM16	OMIM:613320
HP:0000926	Platyspondyly	2261	FGFR3	OMIM:187600
HP:0000926	Platyspondyly	2261	FGFR3	OMIM:100800
HP:0000926	Platyspondyly	3636	INPPL1	OMIM:258480
HP:0000926	Platyspondyly	5130	PCYT1A	OMIM:608940
HP:0000926	Platyspondyly	4041	LRP5	OMIM:259770
HP:0000926	Platyspondyly	3930	LBR	OMIM:215140
HP:0000926	Platyspondyly	3955	LFNG	OMIM:609813
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:166011
HP:0000926	Platyspondyly	5331	PLCB3	OMIM:618961
HP:0000926	Platyspondyly	65992	DDRGK1	ORPHA:93352
HP:0000927	Abnormality of skeletal maturation	5447	POR	ORPHA:95699
HP:0000927	Abnormality of skeletal maturation	2137	EXTL3	ORPHA:508533
HP:0000927	Abnormality of skeletal maturation	1497	CTNS	OMIM:219800
HP:0000927	Abnormality of skeletal maturation	1497	CTNS	ORPHA:411634
HP:0000927	Abnormality of skeletal maturation	9131	AIFM1	OMIM:300232
HP:0000927	Abnormality of skeletal maturation	83932	SPRTN	OMIM:616200
HP:0000927	Abnormality of skeletal maturation	4204	MECP2	ORPHA:1762
HP:0000927	Abnormality of skeletal maturation	2972	BRF1	OMIM:616202
HP:0000927	Abnormality of skeletal maturation	2972	BRF1	ORPHA:444072
HP:0000927	Abnormality of skeletal maturation	6777	STAT5B	OMIM:618985
HP:0000927	Abnormality of skeletal maturation	9820	CUL7	ORPHA:2616
HP:0000927	Abnormality of skeletal maturation	9820	CUL7	OMIM:273750
HP:0000927	Abnormality of skeletal maturation	23363	OBSL1	ORPHA:2616
HP:0000927	Abnormality of skeletal maturation	23363	OBSL1	OMIM:612921
HP:0000927	Abnormality of skeletal maturation	83987	CCDC8	ORPHA:2616
HP:0000927	Abnormality of skeletal maturation	673	BRAF	OMIM:115150
HP:0000927	Abnormality of skeletal maturation	673	BRAF	OMIM:613707
HP:0000927	Abnormality of skeletal maturation	64682	ANAPC1	OMIM:618625
HP:0000927	Abnormality of skeletal maturation	64682	ANAPC1	ORPHA:221008
HP:0000927	Abnormality of skeletal maturation	4047	LSS	ORPHA:2850
HP:0000927	Abnormality of skeletal maturation	197	AHSG	ORPHA:2850
HP:0000927	Abnormality of skeletal maturation	3694	ITGB6	ORPHA:2850
HP:0000927	Abnormality of skeletal maturation	91147	TMEM67	OMIM:602152
HP:0000927	Abnormality of skeletal maturation	91147	TMEM67	ORPHA:140976
HP:0000927	Abnormality of skeletal maturation	3481	IGF2	ORPHA:231140
HP:0000927	Abnormality of skeletal maturation	3481	IGF2	ORPHA:231144
HP:0000927	Abnormality of skeletal maturation	3481	IGF2	OMIM:616489
HP:0000927	Abnormality of skeletal maturation	3481	IGF2	OMIM:180860
HP:0000927	Abnormality of skeletal maturation	283120	H19	ORPHA:231140
HP:0000927	Abnormality of skeletal maturation	283120	H19	ORPHA:231144
HP:0000927	Abnormality of skeletal maturation	7849	PAX8	OMIM:218700
HP:0000927	Abnormality of skeletal maturation	197131	UBR1	OMIM:243800
HP:0000927	Abnormality of skeletal maturation	197131	UBR1	ORPHA:2315
HP:0000927	Abnormality of skeletal maturation	23118	TAB2	ORPHA:228410
HP:0000927	Abnormality of skeletal maturation	2099	ESR1	OMIM:615363
HP:0000927	Abnormality of skeletal maturation	1528	CYB5A	ORPHA:90796
HP:0000927	Abnormality of skeletal maturation	1586	CYP17A1	ORPHA:90796
HP:0000927	Abnormality of skeletal maturation	1586	CYP17A1	ORPHA:90793
HP:0000927	Abnormality of skeletal maturation	176	ACAN	OMIM:608361
HP:0000927	Abnormality of skeletal maturation	10847	SRCAP	ORPHA:2044
HP:0000927	Abnormality of skeletal maturation	10847	SRCAP	OMIM:136140
HP:0000927	Abnormality of skeletal maturation	10847	SRCAP	OMIM:619595
HP:0000927	Abnormality of skeletal maturation	84634	KISS1R	OMIM:614837
HP:0000927	Abnormality of skeletal maturation	84634	KISS1R	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	4758	NEU1	ORPHA:812
HP:0000927	Abnormality of skeletal maturation	3764	KCNJ8	ORPHA:1517
HP:0000927	Abnormality of skeletal maturation	10060	ABCC9	ORPHA:1517
HP:0000927	Abnormality of skeletal maturation	10060	ABCC9	OMIM:239850
HP:0000927	Abnormality of skeletal maturation	150468	CKAP2L	ORPHA:3255
HP:0000927	Abnormality of skeletal maturation	55768	NGLY1	ORPHA:404454
HP:0000927	Abnormality of skeletal maturation	10225	CD96	OMIM:211750
HP:0000927	Abnormality of skeletal maturation	64324	NSD1	ORPHA:228415
HP:0000927	Abnormality of skeletal maturation	2693	GHSR	OMIM:615925
HP:0000927	Abnormality of skeletal maturation	2693	GHSR	ORPHA:314811
HP:0000927	Abnormality of skeletal maturation	79048	SECISBP2	OMIM:609698
HP:0000927	Abnormality of skeletal maturation	79048	SECISBP2	ORPHA:171706
HP:0000927	Abnormality of skeletal maturation	5189	PEX1	OMIM:214100
HP:0000927	Abnormality of skeletal maturation	5189	PEX1	ORPHA:3220
HP:0000927	Abnormality of skeletal maturation	134218	DNAJC21	ORPHA:811
HP:0000927	Abnormality of skeletal maturation	134218	DNAJC21	OMIM:260400
HP:0000927	Abnormality of skeletal maturation	79631	EFL1	ORPHA:811
HP:0000927	Abnormality of skeletal maturation	51119	SBDS	ORPHA:811
HP:0000927	Abnormality of skeletal maturation	51119	SBDS	OMIM:260400
HP:0000927	Abnormality of skeletal maturation	6729	SRP54	ORPHA:811
HP:0000927	Abnormality of skeletal maturation	6729	SRP54	OMIM:260400
HP:0000927	Abnormality of skeletal maturation	7252	TSHB	ORPHA:90674
HP:0000927	Abnormality of skeletal maturation	6595	SMARCA2	OMIM:619293
HP:0000927	Abnormality of skeletal maturation	6595	SMARCA2	OMIM:601358
HP:0000927	Abnormality of skeletal maturation	6595	SMARCA2	ORPHA:3051
HP:0000927	Abnormality of skeletal maturation	6197	RPS6KA3	OMIM:303600
HP:0000927	Abnormality of skeletal maturation	6197	RPS6KA3	ORPHA:192
HP:0000927	Abnormality of skeletal maturation	6023	RMRP	ORPHA:175
HP:0000927	Abnormality of skeletal maturation	56992	KIF15	ORPHA:261323
HP:0000927	Abnormality of skeletal maturation	51360	MBTPS2	ORPHA:2273
HP:0000927	Abnormality of skeletal maturation	57492	ARID1B	OMIM:135900
HP:0000927	Abnormality of skeletal maturation	57492	ARID1B	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	55154	MSTO1	OMIM:617675
HP:0000927	Abnormality of skeletal maturation	55154	MSTO1	ORPHA:502423
HP:0000927	Abnormality of skeletal maturation	6884	TAF13	OMIM:617432
HP:0000927	Abnormality of skeletal maturation	2688	GH1	OMIM:262650
HP:0000927	Abnormality of skeletal maturation	2688	GH1	OMIM:612781
HP:0000927	Abnormality of skeletal maturation	9469	CHST3	OMIM:143095
HP:0000927	Abnormality of skeletal maturation	9469	CHST3	OMIM:245600
HP:0000927	Abnormality of skeletal maturation	3483	IGFALS	ORPHA:140941
HP:0000927	Abnormality of skeletal maturation	55366	LGR4	OMIM:619613
HP:0000927	Abnormality of skeletal maturation	3814	KISS1	OMIM:614842
HP:0000927	Abnormality of skeletal maturation	3814	KISS1	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	8289	ARID1A	OMIM:614607
HP:0000927	Abnormality of skeletal maturation	8289	ARID1A	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	2200	FBN1	ORPHA:969
HP:0000927	Abnormality of skeletal maturation	2200	FBN1	OMIM:614185
HP:0000927	Abnormality of skeletal maturation	2200	FBN1	OMIM:608328
HP:0000927	Abnormality of skeletal maturation	2200	FBN1	OMIM:102370
HP:0000927	Abnormality of skeletal maturation	4054	LTBP3	ORPHA:969
HP:0000927	Abnormality of skeletal maturation	4054	LTBP3	OMIM:617809
HP:0000927	Abnormality of skeletal maturation	4054	LTBP3	OMIM:601216
HP:0000927	Abnormality of skeletal maturation	6598	SMARCB1	OMIM:614608
HP:0000927	Abnormality of skeletal maturation	6598	SMARCB1	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	6597	SMARCA4	OMIM:614609
HP:0000927	Abnormality of skeletal maturation	6597	SMARCA4	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	5832	ALDH18A1	OMIM:601162
HP:0000927	Abnormality of skeletal maturation	5832	ALDH18A1	OMIM:219150
HP:0000927	Abnormality of skeletal maturation	658	BMPR1B	OMIM:609441
HP:0000927	Abnormality of skeletal maturation	5566	PRKACA	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	5567	PRKACB	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	2735	GLI1	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	2121	EVC	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	51626	DYNC2LI1	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	132884	EVC2	ORPHA:289
HP:0000927	Abnormality of skeletal maturation	9839	ZEB2	ORPHA:261552
HP:0000927	Abnormality of skeletal maturation	9839	ZEB2	ORPHA:261537
HP:0000927	Abnormality of skeletal maturation	1327	COX4I1	OMIM:619060
HP:0000927	Abnormality of skeletal maturation	10815	CPLX1	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	10815	CPLX1	OMIM:194190
HP:0000927	Abnormality of skeletal maturation	54872	PIGG	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	7469	NELFA	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	1487	CTBP1	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	1487	CTBP1	OMIM:194190
HP:0000927	Abnormality of skeletal maturation	3954	LETM1	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	3954	LETM1	OMIM:194190
HP:0000927	Abnormality of skeletal maturation	7468	NSD2	ORPHA:280
HP:0000927	Abnormality of skeletal maturation	7468	NSD2	OMIM:194190
HP:0000927	Abnormality of skeletal maturation	1280	COL2A1	ORPHA:2380
HP:0000927	Abnormality of skeletal maturation	1280	COL2A1	OMIM:150600
HP:0000927	Abnormality of skeletal maturation	1280	COL2A1	ORPHA:85198
HP:0000927	Abnormality of skeletal maturation	4297	KMT2A	ORPHA:319182
HP:0000927	Abnormality of skeletal maturation	4297	KMT2A	OMIM:605130
HP:0000927	Abnormality of skeletal maturation	6885	MAP3K7	OMIM:157800
HP:0000927	Abnormality of skeletal maturation	51199	NIN	OMIM:614851
HP:0000927	Abnormality of skeletal maturation	51199	NIN	ORPHA:319675
HP:0000927	Abnormality of skeletal maturation	8036	SHOC2	ORPHA:2701
HP:0000927	Abnormality of skeletal maturation	5500	PPP1CB	ORPHA:2701
HP:0000927	Abnormality of skeletal maturation	5500	PPP1CB	OMIM:617506
HP:0000927	Abnormality of skeletal maturation	55012	PPP2R3C	OMIM:618419
HP:0000927	Abnormality of skeletal maturation	93627	TBCK	ORPHA:488632
HP:0000927	Abnormality of skeletal maturation	6662	SOX9	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	6845	VAMP7	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	51741	WWOX	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	4214	MAP3K1	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	2516	NR5A1	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	2516	NR5A1	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	7490	WT1	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	58524	DMRT3	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	57647	DHX37	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	6736	SRY	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	6736	SRY	ORPHA:1772
HP:0000927	Abnormality of skeletal maturation	23414	ZFPM2	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	190	NR0B1	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	2626	GATA4	ORPHA:251510
HP:0000927	Abnormality of skeletal maturation	1028	CDKN1C	OMIM:614732
HP:0000927	Abnormality of skeletal maturation	26057	ANKRD17	OMIM:619504
HP:0000927	Abnormality of skeletal maturation	25942	SIN3A	OMIM:613406
HP:0000927	Abnormality of skeletal maturation	25942	SIN3A	ORPHA:500166
HP:0000927	Abnormality of skeletal maturation	175	AGA	ORPHA:93
HP:0000927	Abnormality of skeletal maturation	175	AGA	OMIM:208400
HP:0000927	Abnormality of skeletal maturation	53834	FGFRL1	OMIM:194190
HP:0000927	Abnormality of skeletal maturation	5826	ABCD4	OMIM:614857
HP:0000927	Abnormality of skeletal maturation	2697	GJA1	OMIM:257850
HP:0000927	Abnormality of skeletal maturation	1588	CYP19A1	ORPHA:91
HP:0000927	Abnormality of skeletal maturation	1588	CYP19A1	OMIM:613546
HP:0000927	Abnormality of skeletal maturation	59341	TRPV4	OMIM:606835
HP:0000927	Abnormality of skeletal maturation	59341	TRPV4	OMIM:184252
HP:0000927	Abnormality of skeletal maturation	59341	TRPV4	OMIM:156530
HP:0000927	Abnormality of skeletal maturation	3981	LIG4	ORPHA:235
HP:0000927	Abnormality of skeletal maturation	54888	NSUN2	ORPHA:235
HP:0000927	Abnormality of skeletal maturation	4322	MMP13	OMIM:602111
HP:0000927	Abnormality of skeletal maturation	4322	MMP13	ORPHA:2501
HP:0000927	Abnormality of skeletal maturation	55131	RBM28	ORPHA:157954
HP:0000927	Abnormality of skeletal maturation	9056	SLC7A7	ORPHA:470
HP:0000927	Abnormality of skeletal maturation	9056	SLC7A7	OMIM:222700
HP:0000927	Abnormality of skeletal maturation	7025	NR2F1	ORPHA:401777
HP:0000927	Abnormality of skeletal maturation	6772	STAT1	ORPHA:391487
HP:0000927	Abnormality of skeletal maturation	10043	TOM1	ORPHA:391487
HP:0000927	Abnormality of skeletal maturation	402381	SOHLH1	OMIM:617690
HP:0000927	Abnormality of skeletal maturation	6905	TBCE	OMIM:241410
HP:0000927	Abnormality of skeletal maturation	6905	TBCE	OMIM:244460
HP:0000927	Abnormality of skeletal maturation	6905	TBCE	ORPHA:2323
HP:0000927	Abnormality of skeletal maturation	6905	TBCE	ORPHA:93324
HP:0000927	Abnormality of skeletal maturation	51604	PIGT	OMIM:615398
HP:0000927	Abnormality of skeletal maturation	51604	PIGT	ORPHA:369837
HP:0000927	Abnormality of skeletal maturation	5593	PRKG2	OMIM:619638
HP:0000927	Abnormality of skeletal maturation	6804	STX1A	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	7461	CLIP2	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	84277	DNAJC30	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	8468	FKBP6	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	5982	RFC2	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	2969	GTF2I	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	3984	LIMK1	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	9569	GTF2IRD1	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	155382	VPS37D	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	155368	METTL27	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	114049	BUD23	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	7458	EIF4H	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	84163	GTF2IRD2	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	9275	BCL7B	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	26608	TBL2	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	653361	NCF1	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	135886	TMEM270	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	51085	MLXIPL	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	9031	BAZ1B	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	2006	ELN	ORPHA:904
HP:0000927	Abnormality of skeletal maturation	5728	PTEN	ORPHA:109
HP:0000927	Abnormality of skeletal maturation	5190	PEX6	ORPHA:3220
HP:0000927	Abnormality of skeletal maturation	10056	FARSB	OMIM:613658
HP:0000927	Abnormality of skeletal maturation	80067	DCAF17	ORPHA:3464
HP:0000927	Abnormality of skeletal maturation	5626	PROP1	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	5626	PROP1	ORPHA:90695
HP:0000927	Abnormality of skeletal maturation	2736	GLI2	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	89884	LHX4	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	3170	FOXA2	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	5449	POU1F1	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	8820	HESX1	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	8820	HESX1	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	5015	OTX2	ORPHA:95494
HP:0000927	Abnormality of skeletal maturation	5159	PDGFRB	OMIM:601812
HP:0000927	Abnormality of skeletal maturation	4882	NPR2	OMIM:616255
HP:0000927	Abnormality of skeletal maturation	5422	POLA1	ORPHA:163976
HP:0000927	Abnormality of skeletal maturation	11261	CHP1	OMIM:618438
HP:0000927	Abnormality of skeletal maturation	2488	FSHB	OMIM:229070
HP:0000927	Abnormality of skeletal maturation	2488	FSHB	ORPHA:52901
HP:0000927	Abnormality of skeletal maturation	84919	PPP1R15B	OMIM:616817
HP:0000927	Abnormality of skeletal maturation	4920	ROR2	OMIM:268310
HP:0000927	Abnormality of skeletal maturation	5295	PIK3R1	OMIM:269880
HP:0000927	Abnormality of skeletal maturation	5286	PIK3C2A	OMIM:618440
HP:0000927	Abnormality of skeletal maturation	5286	PIK3C2A	ORPHA:557003
HP:0000927	Abnormality of skeletal maturation	546	ATRX	OMIM:309580
HP:0000927	Abnormality of skeletal maturation	84168	ANTXR1	OMIM:230740
HP:0000927	Abnormality of skeletal maturation	84168	ANTXR1	ORPHA:2067
HP:0000927	Abnormality of skeletal maturation	5167	ENPP1	OMIM:613312
HP:0000927	Abnormality of skeletal maturation	25836	NIPBL	OMIM:122470
HP:0000927	Abnormality of skeletal maturation	25836	NIPBL	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	545	ATR	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	545	ATR	OMIM:210600
HP:0000927	Abnormality of skeletal maturation	1062	CENPE	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	5116	PCNT	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	5116	PCNT	OMIM:210720
HP:0000927	Abnormality of skeletal maturation	5116	PCNT	ORPHA:2637
HP:0000927	Abnormality of skeletal maturation	5932	RBBP8	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	79902	NUP85	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	84126	ATRIP	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	55835	CENPJ	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	10293	TRAIP	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	22995	CEP152	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	22995	CEP152	OMIM:613823
HP:0000927	Abnormality of skeletal maturation	10733	PLK4	ORPHA:808
HP:0000927	Abnormality of skeletal maturation	2961	GTF2E2	OMIM:616943
HP:0000927	Abnormality of skeletal maturation	2961	GTF2E2	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	404672	GTF2H5	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	833	CARS1	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	2068	ERCC2	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	2068	ERCC2	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	7737	RNF113A	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	136647	MPLKIP	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	6897	TARS1	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	2071	ERCC3	ORPHA:33364
HP:0000927	Abnormality of skeletal maturation	2071	ERCC3	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	3339	HSPG2	OMIM:255800
HP:0000927	Abnormality of skeletal maturation	3339	HSPG2	ORPHA:800
HP:0000927	Abnormality of skeletal maturation	2317	FLNB	OMIM:272460
HP:0000927	Abnormality of skeletal maturation	100151683	RNU4ATAC	ORPHA:1824
HP:0000927	Abnormality of skeletal maturation	100151683	RNU4ATAC	OMIM:210710
HP:0000927	Abnormality of skeletal maturation	100151683	RNU4ATAC	ORPHA:2636
HP:0000927	Abnormality of skeletal maturation	147372	CCBE1	OMIM:235510
HP:0000927	Abnormality of skeletal maturation	7201	TRHR	ORPHA:99832
HP:0000927	Abnormality of skeletal maturation	7201	TRHR	OMIM:618573
HP:0000927	Abnormality of skeletal maturation	29893	PSMC3IP	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	171568	POLR3H	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	125150	ZSWIM7	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	9210	BMP15	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	57122	NUP107	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	23514	SPIDR	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	23514	SPIDR	OMIM:619665
HP:0000927	Abnormality of skeletal maturation	2492	FSHR	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	56945	MRPS22	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	56945	MRPS22	OMIM:618117
HP:0000927	Abnormality of skeletal maturation	646	BNC1	ORPHA:243
HP:0000927	Abnormality of skeletal maturation	2629	GBA1	ORPHA:77261
HP:0000927	Abnormality of skeletal maturation	2629	GBA1	ORPHA:77259
HP:0000927	Abnormality of skeletal maturation	4509	MT-ATP8	ORPHA:480
HP:0000927	Abnormality of skeletal maturation	4567	MT-TL1	ORPHA:480
HP:0000927	Abnormality of skeletal maturation	50484	RRM2B	ORPHA:480
HP:0000927	Abnormality of skeletal maturation	29123	ANKRD11	OMIM:148050
HP:0000927	Abnormality of skeletal maturation	29123	ANKRD11	ORPHA:2332
HP:0000927	Abnormality of skeletal maturation	51025	PAM16	OMIM:613320
HP:0000927	Abnormality of skeletal maturation	7227	TRPS1	OMIM:190350
HP:0000927	Abnormality of skeletal maturation	7227	TRPS1	OMIM:190351
HP:0000927	Abnormality of skeletal maturation	7227	TRPS1	ORPHA:502
HP:0000927	Abnormality of skeletal maturation	51053	GMNN	OMIM:616835
HP:0000927	Abnormality of skeletal maturation	51053	GMNN	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	6307	MSMO1	OMIM:616834
HP:0000927	Abnormality of skeletal maturation	6654	SOS1	OMIM:610733
HP:0000927	Abnormality of skeletal maturation	6654	SOS1	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	55081	IFT57	OMIM:617927
HP:0000927	Abnormality of skeletal maturation	2260	FGFR1	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	2260	FGFR1	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	2260	FGFR1	ORPHA:2645
HP:0000927	Abnormality of skeletal maturation	10371	SEMA3A	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	81848	SPRY4	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	81848	SPRY4	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	23767	FLRT3	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	128674	PROKR2	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	128674	PROKR2	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	79625	NDNF	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	2253	FGF8	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	2253	FGF8	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	2253	FGF8	OMIM:612702
HP:0000927	Abnormality of skeletal maturation	389549	FEZF1	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	1630	DCC	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	3730	ANOS1	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	54756	IL17RD	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	6663	SOX10	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	285025	CCDC141	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	60675	PROK2	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	60675	PROK2	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	55636	CHD7	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	55636	CHD7	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	1848	DUSP6	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	1848	DUSP6	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	6870	TACR3	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	6870	TACR3	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	55717	WDR11	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	55717	WDR11	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	55717	WDR11	OMIM:620237
HP:0000927	Abnormality of skeletal maturation	9394	HS6ST1	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	9394	HS6ST1	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	8822	FGF17	ORPHA:478
HP:0000927	Abnormality of skeletal maturation	8822	FGF17	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	6658	SOX3	ORPHA:90695
HP:0000927	Abnormality of skeletal maturation	6658	SOX3	ORPHA:67045
HP:0000927	Abnormality of skeletal maturation	950	SCARB2	ORPHA:77259
HP:0000927	Abnormality of skeletal maturation	7507	XPA	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	7508	XPC	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	1643	DDB2	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	2072	ERCC4	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	2073	ERCC5	ORPHA:910
HP:0000927	Abnormality of skeletal maturation	10075	HUWE1	OMIM:309590
HP:0000927	Abnormality of skeletal maturation	3480	IGF1R	ORPHA:73273
HP:0000927	Abnormality of skeletal maturation	3480	IGF1R	OMIM:270450
HP:0000927	Abnormality of skeletal maturation	3479	IGF1	ORPHA:73272
HP:0000927	Abnormality of skeletal maturation	3479	IGF1	OMIM:608747
HP:0000927	Abnormality of skeletal maturation	9361	LONP1	OMIM:600373
HP:0000927	Abnormality of skeletal maturation	9361	LONP1	ORPHA:1458
HP:0000927	Abnormality of skeletal maturation	9663	LPIN2	OMIM:609628
HP:0000927	Abnormality of skeletal maturation	26012	NSMF	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	2796	GNRH1	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	2798	GNRHR	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	6866	TAC3	ORPHA:432
HP:0000927	Abnormality of skeletal maturation	4598	MVK	ORPHA:29
HP:0000927	Abnormality of skeletal maturation	2879	GPX4	ORPHA:93317
HP:0000927	Abnormality of skeletal maturation	5122	PCSK1	ORPHA:71528
HP:0000927	Abnormality of skeletal maturation	10785	WDR4	OMIM:618347
HP:0000927	Abnormality of skeletal maturation	5443	POMC	ORPHA:71526
HP:0000927	Abnormality of skeletal maturation	89970	RSPRY1	OMIM:616723
HP:0000927	Abnormality of skeletal maturation	89970	RSPRY1	ORPHA:457395
HP:0000927	Abnormality of skeletal maturation	79796	ALG9	OMIM:608776
HP:0000927	Abnormality of skeletal maturation	2690	GHR	ORPHA:314802
HP:0000927	Abnormality of skeletal maturation	2690	GHR	OMIM:262500
HP:0000927	Abnormality of skeletal maturation	2690	GHR	ORPHA:633
HP:0000927	Abnormality of skeletal maturation	8091	HMGA2	OMIM:618908
HP:0000927	Abnormality of skeletal maturation	1387	CREBBP	ORPHA:353281
HP:0000927	Abnormality of skeletal maturation	1387	CREBBP	OMIM:180849
HP:0000927	Abnormality of skeletal maturation	7200	TRH	OMIM:275120
HP:0000927	Abnormality of skeletal maturation	6609	SMPD1	ORPHA:77293
HP:0000927	Abnormality of skeletal maturation	10940	POP1	OMIM:617396
HP:0000927	Abnormality of skeletal maturation	254394	MCM9	OMIM:616185
HP:0000927	Abnormality of skeletal maturation	3549	IHH	ORPHA:63446
HP:0000927	Abnormality of skeletal maturation	4998	ORC1	OMIM:224690
HP:0000927	Abnormality of skeletal maturation	4998	ORC1	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	8260	NAA10	OMIM:300855
HP:0000927	Abnormality of skeletal maturation	8200	GDF5	ORPHA:63442
HP:0000927	Abnormality of skeletal maturation	8200	GDF5	OMIM:113100
HP:0000927	Abnormality of skeletal maturation	3643	INSR	OMIM:246200
HP:0000927	Abnormality of skeletal maturation	3643	INSR	ORPHA:769
HP:0000927	Abnormality of skeletal maturation	6659	SOX4	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	5977	DPF2	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	6601	SMARCC2	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	6602	SMARCD1	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	196528	ARID2	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	6605	SMARCE1	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	6664	SOX11	ORPHA:1465
HP:0000927	Abnormality of skeletal maturation	2138	EYA1	ORPHA:2792
HP:0000927	Abnormality of skeletal maturation	5075	PAX1	ORPHA:2792
HP:0000927	Abnormality of skeletal maturation	3759	KCNJ2	OMIM:170390
HP:0000927	Abnormality of skeletal maturation	51608	GET4	OMIM:620200
HP:0000927	Abnormality of skeletal maturation	81620	CDT1	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	81620	CDT1	OMIM:613804
HP:0000927	Abnormality of skeletal maturation	5000	ORC4	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	5000	ORC4	OMIM:613800
HP:0000927	Abnormality of skeletal maturation	23594	ORC6	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	23594	ORC6	OMIM:613803
HP:0000927	Abnormality of skeletal maturation	8318	CDC45	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	990	CDC6	ORPHA:2554
HP:0000927	Abnormality of skeletal maturation	990	CDC6	OMIM:613805
HP:0000927	Abnormality of skeletal maturation	3265	HRAS	ORPHA:3071
HP:0000927	Abnormality of skeletal maturation	7703	PCGF2	OMIM:618371
HP:0000927	Abnormality of skeletal maturation	1583	CYP11A1	ORPHA:289548
HP:0000927	Abnormality of skeletal maturation	1583	CYP11A1	ORPHA:168558
HP:0000927	Abnormality of skeletal maturation	11342	RNF13	OMIM:618379
HP:0000927	Abnormality of skeletal maturation	11342	RNF13	ORPHA:544503
HP:0000927	Abnormality of skeletal maturation	7067	THRA	OMIM:614450
HP:0000927	Abnormality of skeletal maturation	29980	DONSON	OMIM:617604
HP:0000927	Abnormality of skeletal maturation	84701	COX4I2	OMIM:612714
HP:0000927	Abnormality of skeletal maturation	23476	BRD4	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	9126	SMC3	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	8243	SMC1A	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	55869	HDAC8	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	5885	RAD21	ORPHA:199
HP:0000927	Abnormality of skeletal maturation	9791	PTDSS1	OMIM:151050
HP:0000927	Abnormality of skeletal maturation	9791	PTDSS1	ORPHA:2658
HP:0000927	Abnormality of skeletal maturation	2033	EP300	OMIM:180849
HP:0000927	Abnormality of skeletal maturation	55325	UFSP2	OMIM:617974
HP:0000927	Abnormality of skeletal maturation	29957	SLC25A24	OMIM:612289
HP:0000927	Abnormality of skeletal maturation	9401	RECQL4	ORPHA:221016
HP:0000927	Abnormality of skeletal maturation	3845	KRAS	OMIM:609942
HP:0000927	Abnormality of skeletal maturation	3845	KRAS	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	4796	TONSL	OMIM:271510
HP:0000927	Abnormality of skeletal maturation	2131	EXT1	ORPHA:502
HP:0000927	Abnormality of skeletal maturation	2887	GRB10	ORPHA:96182
HP:0000927	Abnormality of skeletal maturation	8567	MADD	OMIM:619004
HP:0000927	Abnormality of skeletal maturation	374879	ZNF699	OMIM:619488
HP:0000927	Abnormality of skeletal maturation	2692	GHRHR	OMIM:618157
HP:0000927	Abnormality of skeletal maturation	54870	QRICH1	OMIM:617982
HP:0000927	Abnormality of skeletal maturation	83737	ITCH	OMIM:613385
HP:0000927	Abnormality of skeletal maturation	9702	CEP57	OMIM:614114
HP:0000927	Abnormality of skeletal maturation	4780	NFE2L2	OMIM:617744
HP:0000927	Abnormality of skeletal maturation	5456	POU3F4	ORPHA:1435
HP:0000927	Abnormality of skeletal maturation	55599	RNPC3	OMIM:618160
HP:0000927	Abnormality of skeletal maturation	2332	FMR1	ORPHA:261483
HP:0000927	Abnormality of skeletal maturation	7157	TP53	OMIM:618165
HP:0000927	Abnormality of skeletal maturation	650	BMP2	OMIM:617877
HP:0000927	Abnormality of skeletal maturation	51594	NBAS	OMIM:614800
HP:0000927	Abnormality of skeletal maturation	3295	HSD17B4	OMIM:261515
HP:0000927	Abnormality of skeletal maturation	22800	RRAS2	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	867	CBL	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	8216	LZTR1	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	6016	RIT1	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	6237	RRAS	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	5894	RAF1	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	22808	MRAS	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	200734	SPRED2	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	4893	NRAS	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	6655	SOS2	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	5781	PTPN11	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	5922	RASA2	ORPHA:648
HP:0000927	Abnormality of skeletal maturation	695	BTK	OMIM:307200
HP:0000927	Abnormality of skeletal maturation	7474	WNT5A	OMIM:180700
HP:0000927	Abnormality of skeletal maturation	1855	DVL1	OMIM:180700
HP:0000927	Abnormality of skeletal maturation	64802	NMNAT1	OMIM:619260
HP:0000927	Abnormality of skeletal maturation	26229	B3GAT3	OMIM:245600
HP:0000927	Abnormality of skeletal maturation	129285	PPP1R21	OMIM:619383
HP:0000927	Abnormality of skeletal maturation	23309	SIN3B	ORPHA:500166
HP:0000927	Abnormality of skeletal maturation	3735	KARS1	OMIM:619147
HP:0000927	Abnormality of skeletal maturation	1804	DPP6	OMIM:616311
HP:0000927	Abnormality of skeletal maturation	10892	MALT1	OMIM:615468
HP:0000927	Abnormality of skeletal maturation	3636	INPPL1	ORPHA:2746
HP:0000927	Abnormality of skeletal maturation	55315	SLC29A3	ORPHA:168569
HP:0000927	Abnormality of skeletal maturation	63901	FAM111A	ORPHA:93325
HP:0000927	Abnormality of skeletal maturation	5573	PRKAR1A	ORPHA:950
HP:0000927	Abnormality of skeletal maturation	5573	PRKAR1A	ORPHA:280651
HP:0000927	Abnormality of skeletal maturation	5573	PRKAR1A	OMIM:101800
HP:0000927	Abnormality of skeletal maturation	5144	PDE4D	ORPHA:950
HP:0000927	Abnormality of skeletal maturation	5144	PDE4D	ORPHA:280651
HP:0000927	Abnormality of skeletal maturation	5144	PDE4D	ORPHA:439822
HP:0000927	Abnormality of skeletal maturation	7840	ALMS1	ORPHA:64
HP:0000927	Abnormality of skeletal maturation	7840	ALMS1	OMIM:203800
HP:0000927	Abnormality of skeletal maturation	11285	B4GALT7	OMIM:130070
HP:0000927	Abnormality of skeletal maturation	4158	MC2R	OMIM:202200
HP:0000927	Abnormality of skeletal maturation	23512	SUZ12	OMIM:618786
HP:0000927	Abnormality of skeletal maturation	23512	SUZ12	ORPHA:3447
HP:0000927	Abnormality of skeletal maturation	26580	BSCL2	OMIM:269700
HP:0000927	Abnormality of skeletal maturation	26580	BSCL2	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	2737	GLI3	OMIM:175700
HP:0000927	Abnormality of skeletal maturation	2737	GLI3	ORPHA:380
HP:0000927	Abnormality of skeletal maturation	3290	HSD11B1	OMIM:614662
HP:0000927	Abnormality of skeletal maturation	84282	RNF135	ORPHA:137634
HP:0000927	Abnormality of skeletal maturation	3008	H1-4	OMIM:617537
HP:0000927	Abnormality of skeletal maturation	1650	DDOST	OMIM:614507
HP:0000927	Abnormality of skeletal maturation	1650	DDOST	ORPHA:300536
HP:0000927	Abnormality of skeletal maturation	23169	SLC35D1	ORPHA:3144
HP:0000927	Abnormality of skeletal maturation	4784	NFIX	ORPHA:420179
HP:0000927	Abnormality of skeletal maturation	4784	NFIX	OMIM:614753
HP:0000927	Abnormality of skeletal maturation	4784	NFIX	OMIM:602535
HP:0000927	Abnormality of skeletal maturation	4784	NFIX	ORPHA:561
HP:0000927	Abnormality of skeletal maturation	7253	TSHR	ORPHA:424
HP:0000927	Abnormality of skeletal maturation	7253	TSHR	OMIM:609152
HP:0000927	Abnormality of skeletal maturation	5745	PTH1R	OMIM:215045
HP:0000927	Abnormality of skeletal maturation	5745	PTH1R	ORPHA:50945
HP:0000927	Abnormality of skeletal maturation	29072	SETD2	ORPHA:821
HP:0000927	Abnormality of skeletal maturation	10297	APC2	ORPHA:821
HP:0000927	Abnormality of skeletal maturation	1584	CYP11B1	OMIM:202010
HP:0000927	Abnormality of skeletal maturation	1584	CYP11B1	ORPHA:90795
HP:0000927	Abnormality of skeletal maturation	55790	CSGALNACT1	OMIM:618870
HP:0000927	Abnormality of skeletal maturation	55790	CSGALNACT1	ORPHA:1425
HP:0000927	Abnormality of skeletal maturation	6942	TCF20	OMIM:618430
HP:0000927	Abnormality of skeletal maturation	1836	SLC26A2	ORPHA:93307
HP:0000927	Abnormality of skeletal maturation	200424	TET3	OMIM:618798
HP:0000927	Abnormality of skeletal maturation	3952	LEP	ORPHA:66628
HP:0000927	Abnormality of skeletal maturation	4221	MEN1	ORPHA:99725
HP:0000927	Abnormality of skeletal maturation	9049	AIP	ORPHA:99725
HP:0000927	Abnormality of skeletal maturation	55252	ASXL2	OMIM:617190
HP:0000927	Abnormality of skeletal maturation	2239	GPC4	ORPHA:373
HP:0000927	Abnormality of skeletal maturation	2239	GPC4	OMIM:312870
HP:0000927	Abnormality of skeletal maturation	2719	GPC3	ORPHA:373
HP:0000927	Abnormality of skeletal maturation	2719	GPC3	OMIM:312870
HP:0000927	Abnormality of skeletal maturation	10984	KCNQ1OT1	OMIM:130650
HP:0000927	Abnormality of skeletal maturation	3784	KCNQ1	OMIM:130650
HP:0000927	Abnormality of skeletal maturation	84068	SLC10A7	OMIM:618363
HP:0000927	Abnormality of skeletal maturation	85358	SHANK3	ORPHA:48652
HP:0000927	Abnormality of skeletal maturation	2146	EZH2	OMIM:277590
HP:0000927	Abnormality of skeletal maturation	2146	EZH2	ORPHA:3447
HP:0000927	Abnormality of skeletal maturation	3973	LHCGR	ORPHA:3000
HP:0000927	Abnormality of skeletal maturation	5468	PPARG	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	10555	AGPAT2	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	10555	AGPAT2	OMIM:608594
HP:0000927	Abnormality of skeletal maturation	284119	CAVIN1	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	284119	CAVIN1	OMIM:613327
HP:0000927	Abnormality of skeletal maturation	2353	FOS	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	857	CAV1	ORPHA:528
HP:0000927	Abnormality of skeletal maturation	64131	XYLT1	ORPHA:370930
HP:0000927	Abnormality of skeletal maturation	64131	XYLT1	ORPHA:1425
HP:0000927	Abnormality of skeletal maturation	124583	CANT1	ORPHA:1425
HP:0000927	Abnormality of skeletal maturation	8726	EED	ORPHA:3447
HP:0000927	Abnormality of skeletal maturation	8726	EED	OMIM:617561
HP:0000927	Abnormality of skeletal maturation	5727	PTCH1	ORPHA:77301
HP:0000927	Abnormality of skeletal maturation	2778	GNAS	ORPHA:562
HP:0000927	Abnormality of skeletal maturation	372	ARCN1	OMIM:617164
HP:0000927	Abnormality of skeletal maturation	1656	DDX6	OMIM:618653
HP:0000927	Abnormality of skeletal maturation	83550	GPR101	OMIM:300942
HP:0000927	Abnormality of skeletal maturation	7681	MKRN3	OMIM:615346
HP:0000927	Abnormality of skeletal maturation	3953	LEPR	ORPHA:179494
HP:0000927	Abnormality of skeletal maturation	80152	CENPT	OMIM:618702
HP:0002750	Delayed skeletal maturation	2137	EXTL3	ORPHA:508533
HP:0002750	Delayed skeletal maturation	1497	CTNS	OMIM:219800
HP:0002750	Delayed skeletal maturation	1497	CTNS	ORPHA:411634
HP:0002750	Delayed skeletal maturation	9131	AIFM1	OMIM:300232
HP:0002750	Delayed skeletal maturation	83932	SPRTN	OMIM:616200
HP:0002750	Delayed skeletal maturation	4204	MECP2	ORPHA:1762
HP:0002750	Delayed skeletal maturation	2972	BRF1	OMIM:616202
HP:0002750	Delayed skeletal maturation	2972	BRF1	ORPHA:444072
HP:0002750	Delayed skeletal maturation	6777	STAT5B	OMIM:618985
HP:0002750	Delayed skeletal maturation	9820	CUL7	ORPHA:2616
HP:0002750	Delayed skeletal maturation	9820	CUL7	OMIM:273750
HP:0002750	Delayed skeletal maturation	23363	OBSL1	ORPHA:2616
HP:0002750	Delayed skeletal maturation	23363	OBSL1	OMIM:612921
HP:0002750	Delayed skeletal maturation	83987	CCDC8	ORPHA:2616
HP:0002750	Delayed skeletal maturation	673	BRAF	OMIM:115150
HP:0002750	Delayed skeletal maturation	673	BRAF	OMIM:613707
HP:0002750	Delayed skeletal maturation	64682	ANAPC1	OMIM:618625
HP:0002750	Delayed skeletal maturation	64682	ANAPC1	ORPHA:221008
HP:0002750	Delayed skeletal maturation	4047	LSS	ORPHA:2850
HP:0002750	Delayed skeletal maturation	197	AHSG	ORPHA:2850
HP:0002750	Delayed skeletal maturation	3694	ITGB6	ORPHA:2850
HP:0002750	Delayed skeletal maturation	91147	TMEM67	OMIM:602152
HP:0002750	Delayed skeletal maturation	91147	TMEM67	ORPHA:140976
HP:0002750	Delayed skeletal maturation	3481	IGF2	ORPHA:231140
HP:0002750	Delayed skeletal maturation	3481	IGF2	ORPHA:231144
HP:0002750	Delayed skeletal maturation	3481	IGF2	OMIM:616489
HP:0002750	Delayed skeletal maturation	3481	IGF2	OMIM:180860
HP:0002750	Delayed skeletal maturation	283120	H19	ORPHA:231140
HP:0002750	Delayed skeletal maturation	283120	H19	ORPHA:231144
HP:0002750	Delayed skeletal maturation	7849	PAX8	OMIM:218700
HP:0002750	Delayed skeletal maturation	197131	UBR1	OMIM:243800
HP:0002750	Delayed skeletal maturation	197131	UBR1	ORPHA:2315
HP:0002750	Delayed skeletal maturation	23118	TAB2	ORPHA:228410
HP:0002750	Delayed skeletal maturation	2099	ESR1	OMIM:615363
HP:0002750	Delayed skeletal maturation	1528	CYB5A	ORPHA:90796
HP:0002750	Delayed skeletal maturation	1586	CYP17A1	ORPHA:90796
HP:0002750	Delayed skeletal maturation	1586	CYP17A1	ORPHA:90793
HP:0002750	Delayed skeletal maturation	176	ACAN	OMIM:608361
HP:0002750	Delayed skeletal maturation	10847	SRCAP	ORPHA:2044
HP:0002750	Delayed skeletal maturation	10847	SRCAP	OMIM:136140
HP:0002750	Delayed skeletal maturation	10847	SRCAP	OMIM:619595
HP:0002750	Delayed skeletal maturation	84634	KISS1R	OMIM:614837
HP:0002750	Delayed skeletal maturation	84634	KISS1R	ORPHA:432
HP:0002750	Delayed skeletal maturation	4758	NEU1	ORPHA:812
HP:0002750	Delayed skeletal maturation	3764	KCNJ8	ORPHA:1517
HP:0002750	Delayed skeletal maturation	10060	ABCC9	ORPHA:1517
HP:0002750	Delayed skeletal maturation	10060	ABCC9	OMIM:239850
HP:0002750	Delayed skeletal maturation	150468	CKAP2L	ORPHA:3255
HP:0002750	Delayed skeletal maturation	55768	NGLY1	ORPHA:404454
HP:0002750	Delayed skeletal maturation	10225	CD96	OMIM:211750
HP:0002750	Delayed skeletal maturation	64324	NSD1	ORPHA:228415
HP:0002750	Delayed skeletal maturation	2693	GHSR	OMIM:615925
HP:0002750	Delayed skeletal maturation	2693	GHSR	ORPHA:314811
HP:0002750	Delayed skeletal maturation	79048	SECISBP2	OMIM:609698
HP:0002750	Delayed skeletal maturation	79048	SECISBP2	ORPHA:171706
HP:0002750	Delayed skeletal maturation	5189	PEX1	OMIM:214100
HP:0002750	Delayed skeletal maturation	5189	PEX1	ORPHA:3220
HP:0002750	Delayed skeletal maturation	134218	DNAJC21	ORPHA:811
HP:0002750	Delayed skeletal maturation	134218	DNAJC21	OMIM:260400
HP:0002750	Delayed skeletal maturation	79631	EFL1	ORPHA:811
HP:0002750	Delayed skeletal maturation	51119	SBDS	ORPHA:811
HP:0002750	Delayed skeletal maturation	51119	SBDS	OMIM:260400
HP:0002750	Delayed skeletal maturation	6729	SRP54	ORPHA:811
HP:0002750	Delayed skeletal maturation	6729	SRP54	OMIM:260400
HP:0002750	Delayed skeletal maturation	7252	TSHB	ORPHA:90674
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	OMIM:619293
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	OMIM:601358
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	ORPHA:3051
HP:0002750	Delayed skeletal maturation	6197	RPS6KA3	OMIM:303600
HP:0002750	Delayed skeletal maturation	6197	RPS6KA3	ORPHA:192
HP:0002750	Delayed skeletal maturation	6023	RMRP	ORPHA:175
HP:0002750	Delayed skeletal maturation	56992	KIF15	ORPHA:261323
HP:0002750	Delayed skeletal maturation	51360	MBTPS2	ORPHA:2273
HP:0002750	Delayed skeletal maturation	57492	ARID1B	OMIM:135900
HP:0002750	Delayed skeletal maturation	57492	ARID1B	ORPHA:1465
HP:0002750	Delayed skeletal maturation	55154	MSTO1	OMIM:617675
HP:0002750	Delayed skeletal maturation	55154	MSTO1	ORPHA:502423
HP:0002750	Delayed skeletal maturation	6884	TAF13	OMIM:617432
HP:0002750	Delayed skeletal maturation	2688	GH1	OMIM:262650
HP:0002750	Delayed skeletal maturation	2688	GH1	OMIM:612781
HP:0002750	Delayed skeletal maturation	9469	CHST3	OMIM:143095
HP:0002750	Delayed skeletal maturation	9469	CHST3	OMIM:245600
HP:0002750	Delayed skeletal maturation	3483	IGFALS	ORPHA:140941
HP:0002750	Delayed skeletal maturation	55366	LGR4	OMIM:619613
HP:0002750	Delayed skeletal maturation	3814	KISS1	OMIM:614842
HP:0002750	Delayed skeletal maturation	3814	KISS1	ORPHA:432
HP:0002750	Delayed skeletal maturation	8289	ARID1A	OMIM:614607
HP:0002750	Delayed skeletal maturation	8289	ARID1A	ORPHA:1465
HP:0002750	Delayed skeletal maturation	2200	FBN1	ORPHA:969
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:614185
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:608328
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:102370
HP:0002750	Delayed skeletal maturation	4054	LTBP3	ORPHA:969
HP:0002750	Delayed skeletal maturation	4054	LTBP3	OMIM:617809
HP:0002750	Delayed skeletal maturation	4054	LTBP3	OMIM:601216
HP:0002750	Delayed skeletal maturation	6598	SMARCB1	OMIM:614608
HP:0002750	Delayed skeletal maturation	6598	SMARCB1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6597	SMARCA4	OMIM:614609
HP:0002750	Delayed skeletal maturation	6597	SMARCA4	ORPHA:1465
HP:0002750	Delayed skeletal maturation	5832	ALDH18A1	OMIM:601162
HP:0002750	Delayed skeletal maturation	5832	ALDH18A1	OMIM:219150
HP:0002750	Delayed skeletal maturation	658	BMPR1B	OMIM:609441
HP:0002750	Delayed skeletal maturation	5566	PRKACA	ORPHA:289
HP:0002750	Delayed skeletal maturation	5567	PRKACB	ORPHA:289
HP:0002750	Delayed skeletal maturation	2735	GLI1	ORPHA:289
HP:0002750	Delayed skeletal maturation	2121	EVC	ORPHA:289
HP:0002750	Delayed skeletal maturation	51626	DYNC2LI1	ORPHA:289
HP:0002750	Delayed skeletal maturation	132884	EVC2	ORPHA:289
HP:0002750	Delayed skeletal maturation	9839	ZEB2	ORPHA:261552
HP:0002750	Delayed skeletal maturation	9839	ZEB2	ORPHA:261537
HP:0002750	Delayed skeletal maturation	1327	COX4I1	OMIM:619060
HP:0002750	Delayed skeletal maturation	10815	CPLX1	ORPHA:280
HP:0002750	Delayed skeletal maturation	10815	CPLX1	OMIM:194190
HP:0002750	Delayed skeletal maturation	54872	PIGG	ORPHA:280
HP:0002750	Delayed skeletal maturation	7469	NELFA	ORPHA:280
HP:0002750	Delayed skeletal maturation	1487	CTBP1	ORPHA:280
HP:0002750	Delayed skeletal maturation	1487	CTBP1	OMIM:194190
HP:0002750	Delayed skeletal maturation	3954	LETM1	ORPHA:280
HP:0002750	Delayed skeletal maturation	3954	LETM1	OMIM:194190
HP:0002750	Delayed skeletal maturation	7468	NSD2	ORPHA:280
HP:0002750	Delayed skeletal maturation	7468	NSD2	OMIM:194190
HP:0002750	Delayed skeletal maturation	1280	COL2A1	ORPHA:2380
HP:0002750	Delayed skeletal maturation	1280	COL2A1	OMIM:150600
HP:0002750	Delayed skeletal maturation	1280	COL2A1	ORPHA:85198
HP:0002750	Delayed skeletal maturation	4297	KMT2A	ORPHA:319182
HP:0002750	Delayed skeletal maturation	4297	KMT2A	OMIM:605130
HP:0002750	Delayed skeletal maturation	6885	MAP3K7	OMIM:157800
HP:0002750	Delayed skeletal maturation	51199	NIN	OMIM:614851
HP:0002750	Delayed skeletal maturation	51199	NIN	ORPHA:319675
HP:0002750	Delayed skeletal maturation	8036	SHOC2	ORPHA:2701
HP:0002750	Delayed skeletal maturation	5500	PPP1CB	ORPHA:2701
HP:0002750	Delayed skeletal maturation	5500	PPP1CB	OMIM:617506
HP:0002750	Delayed skeletal maturation	55012	PPP2R3C	OMIM:618419
HP:0002750	Delayed skeletal maturation	93627	TBCK	ORPHA:488632
HP:0002750	Delayed skeletal maturation	6662	SOX9	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6845	VAMP7	ORPHA:251510
HP:0002750	Delayed skeletal maturation	51741	WWOX	ORPHA:251510
HP:0002750	Delayed skeletal maturation	4214	MAP3K1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	2516	NR5A1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	2516	NR5A1	ORPHA:243
HP:0002750	Delayed skeletal maturation	7490	WT1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	58524	DMRT3	ORPHA:251510
HP:0002750	Delayed skeletal maturation	57647	DHX37	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6736	SRY	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6736	SRY	ORPHA:1772
HP:0002750	Delayed skeletal maturation	23414	ZFPM2	ORPHA:251510
HP:0002750	Delayed skeletal maturation	190	NR0B1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	2626	GATA4	ORPHA:251510
HP:0002750	Delayed skeletal maturation	1028	CDKN1C	OMIM:614732
HP:0002750	Delayed skeletal maturation	26057	ANKRD17	OMIM:619504
HP:0002750	Delayed skeletal maturation	25942	SIN3A	OMIM:613406
HP:0002750	Delayed skeletal maturation	25942	SIN3A	ORPHA:500166
HP:0002750	Delayed skeletal maturation	175	AGA	ORPHA:93
HP:0002750	Delayed skeletal maturation	175	AGA	OMIM:208400
HP:0002750	Delayed skeletal maturation	53834	FGFRL1	OMIM:194190
HP:0002750	Delayed skeletal maturation	5826	ABCD4	OMIM:614857
HP:0002750	Delayed skeletal maturation	2697	GJA1	OMIM:257850
HP:0002750	Delayed skeletal maturation	1588	CYP19A1	ORPHA:91
HP:0002750	Delayed skeletal maturation	1588	CYP19A1	OMIM:613546
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:606835
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:184252
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:156530
HP:0002750	Delayed skeletal maturation	3981	LIG4	ORPHA:235
HP:0002750	Delayed skeletal maturation	54888	NSUN2	ORPHA:235
HP:0002750	Delayed skeletal maturation	4322	MMP13	OMIM:602111
HP:0002750	Delayed skeletal maturation	4322	MMP13	ORPHA:2501
HP:0002750	Delayed skeletal maturation	55131	RBM28	ORPHA:157954
HP:0002750	Delayed skeletal maturation	9056	SLC7A7	ORPHA:470
HP:0002750	Delayed skeletal maturation	9056	SLC7A7	OMIM:222700
HP:0002750	Delayed skeletal maturation	7025	NR2F1	ORPHA:401777
HP:0002750	Delayed skeletal maturation	6772	STAT1	ORPHA:391487
HP:0002750	Delayed skeletal maturation	10043	TOM1	ORPHA:391487
HP:0002750	Delayed skeletal maturation	402381	SOHLH1	OMIM:617690
HP:0002750	Delayed skeletal maturation	6905	TBCE	OMIM:241410
HP:0002750	Delayed skeletal maturation	6905	TBCE	OMIM:244460
HP:0002750	Delayed skeletal maturation	6905	TBCE	ORPHA:2323
HP:0002750	Delayed skeletal maturation	6905	TBCE	ORPHA:93324
HP:0002750	Delayed skeletal maturation	51604	PIGT	OMIM:615398
HP:0002750	Delayed skeletal maturation	51604	PIGT	ORPHA:369837
HP:0002750	Delayed skeletal maturation	5593	PRKG2	OMIM:619638
HP:0002750	Delayed skeletal maturation	6804	STX1A	ORPHA:904
HP:0002750	Delayed skeletal maturation	7461	CLIP2	ORPHA:904
HP:0002750	Delayed skeletal maturation	84277	DNAJC30	ORPHA:904
HP:0002750	Delayed skeletal maturation	8468	FKBP6	ORPHA:904
HP:0002750	Delayed skeletal maturation	5982	RFC2	ORPHA:904
HP:0002750	Delayed skeletal maturation	2969	GTF2I	ORPHA:904
HP:0002750	Delayed skeletal maturation	3984	LIMK1	ORPHA:904
HP:0002750	Delayed skeletal maturation	9569	GTF2IRD1	ORPHA:904
HP:0002750	Delayed skeletal maturation	155382	VPS37D	ORPHA:904
HP:0002750	Delayed skeletal maturation	155368	METTL27	ORPHA:904
HP:0002750	Delayed skeletal maturation	114049	BUD23	ORPHA:904
HP:0002750	Delayed skeletal maturation	7458	EIF4H	ORPHA:904
HP:0002750	Delayed skeletal maturation	84163	GTF2IRD2	ORPHA:904
HP:0002750	Delayed skeletal maturation	9275	BCL7B	ORPHA:904
HP:0002750	Delayed skeletal maturation	26608	TBL2	ORPHA:904
HP:0002750	Delayed skeletal maturation	653361	NCF1	ORPHA:904
HP:0002750	Delayed skeletal maturation	135886	TMEM270	ORPHA:904
HP:0002750	Delayed skeletal maturation	51085	MLXIPL	ORPHA:904
HP:0002750	Delayed skeletal maturation	9031	BAZ1B	ORPHA:904
HP:0002750	Delayed skeletal maturation	2006	ELN	ORPHA:904
HP:0002750	Delayed skeletal maturation	5728	PTEN	ORPHA:109
HP:0002750	Delayed skeletal maturation	5190	PEX6	ORPHA:3220
HP:0002750	Delayed skeletal maturation	10056	FARSB	OMIM:613658
HP:0002750	Delayed skeletal maturation	80067	DCAF17	ORPHA:3464
HP:0002750	Delayed skeletal maturation	5626	PROP1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	5626	PROP1	ORPHA:90695
HP:0002750	Delayed skeletal maturation	2736	GLI2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	89884	LHX4	ORPHA:95494
HP:0002750	Delayed skeletal maturation	3170	FOXA2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	5449	POU1F1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	8820	HESX1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	8820	HESX1	ORPHA:478
HP:0002750	Delayed skeletal maturation	5015	OTX2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	5159	PDGFRB	OMIM:601812
HP:0002750	Delayed skeletal maturation	4882	NPR2	OMIM:616255
HP:0002750	Delayed skeletal maturation	5422	POLA1	ORPHA:163976
HP:0002750	Delayed skeletal maturation	11261	CHP1	OMIM:618438
HP:0002750	Delayed skeletal maturation	2488	FSHB	OMIM:229070
HP:0002750	Delayed skeletal maturation	2488	FSHB	ORPHA:52901
HP:0002750	Delayed skeletal maturation	84919	PPP1R15B	OMIM:616817
HP:0002750	Delayed skeletal maturation	4920	ROR2	OMIM:268310
HP:0002750	Delayed skeletal maturation	5295	PIK3R1	OMIM:269880
HP:0002750	Delayed skeletal maturation	5286	PIK3C2A	OMIM:618440
HP:0002750	Delayed skeletal maturation	5286	PIK3C2A	ORPHA:557003
HP:0002750	Delayed skeletal maturation	546	ATRX	OMIM:309580
HP:0002750	Delayed skeletal maturation	84168	ANTXR1	OMIM:230740
HP:0002750	Delayed skeletal maturation	84168	ANTXR1	ORPHA:2067
HP:0002750	Delayed skeletal maturation	5167	ENPP1	OMIM:613312
HP:0002750	Delayed skeletal maturation	25836	NIPBL	OMIM:122470
HP:0002750	Delayed skeletal maturation	25836	NIPBL	ORPHA:199
HP:0002750	Delayed skeletal maturation	545	ATR	ORPHA:808
HP:0002750	Delayed skeletal maturation	545	ATR	OMIM:210600
HP:0002750	Delayed skeletal maturation	1062	CENPE	ORPHA:808
HP:0002750	Delayed skeletal maturation	5116	PCNT	ORPHA:808
HP:0002750	Delayed skeletal maturation	5116	PCNT	OMIM:210720
HP:0002750	Delayed skeletal maturation	5116	PCNT	ORPHA:2637
HP:0002750	Delayed skeletal maturation	5932	RBBP8	ORPHA:808
HP:0002750	Delayed skeletal maturation	79902	NUP85	ORPHA:808
HP:0002750	Delayed skeletal maturation	84126	ATRIP	ORPHA:808
HP:0002750	Delayed skeletal maturation	55835	CENPJ	ORPHA:808
HP:0002750	Delayed skeletal maturation	10293	TRAIP	ORPHA:808
HP:0002750	Delayed skeletal maturation	22995	CEP152	ORPHA:808
HP:0002750	Delayed skeletal maturation	22995	CEP152	OMIM:613823
HP:0002750	Delayed skeletal maturation	10733	PLK4	ORPHA:808
HP:0002750	Delayed skeletal maturation	2961	GTF2E2	OMIM:616943
HP:0002750	Delayed skeletal maturation	2961	GTF2E2	ORPHA:33364
HP:0002750	Delayed skeletal maturation	404672	GTF2H5	ORPHA:33364
HP:0002750	Delayed skeletal maturation	833	CARS1	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2068	ERCC2	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2068	ERCC2	ORPHA:910
HP:0002750	Delayed skeletal maturation	7737	RNF113A	ORPHA:33364
HP:0002750	Delayed skeletal maturation	136647	MPLKIP	ORPHA:33364
HP:0002750	Delayed skeletal maturation	6897	TARS1	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2071	ERCC3	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2071	ERCC3	ORPHA:910
HP:0002750	Delayed skeletal maturation	3339	HSPG2	OMIM:255800
HP:0002750	Delayed skeletal maturation	3339	HSPG2	ORPHA:800
HP:0002750	Delayed skeletal maturation	2317	FLNB	OMIM:272460
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	ORPHA:1824
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	OMIM:210710
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	ORPHA:2636
HP:0002750	Delayed skeletal maturation	147372	CCBE1	OMIM:235510
HP:0002750	Delayed skeletal maturation	7201	TRHR	ORPHA:99832
HP:0002750	Delayed skeletal maturation	7201	TRHR	OMIM:618573
HP:0002750	Delayed skeletal maturation	29893	PSMC3IP	ORPHA:243
HP:0002750	Delayed skeletal maturation	171568	POLR3H	ORPHA:243
HP:0002750	Delayed skeletal maturation	125150	ZSWIM7	ORPHA:243
HP:0002750	Delayed skeletal maturation	9210	BMP15	ORPHA:243
HP:0002750	Delayed skeletal maturation	57122	NUP107	ORPHA:243
HP:0002750	Delayed skeletal maturation	23514	SPIDR	ORPHA:243
HP:0002750	Delayed skeletal maturation	23514	SPIDR	OMIM:619665
HP:0002750	Delayed skeletal maturation	2492	FSHR	ORPHA:243
HP:0002750	Delayed skeletal maturation	56945	MRPS22	ORPHA:243
HP:0002750	Delayed skeletal maturation	56945	MRPS22	OMIM:618117
HP:0002750	Delayed skeletal maturation	646	BNC1	ORPHA:243
HP:0002750	Delayed skeletal maturation	2629	GBA1	ORPHA:77261
HP:0002750	Delayed skeletal maturation	2629	GBA1	ORPHA:77259
HP:0002750	Delayed skeletal maturation	4509	MT-ATP8	ORPHA:480
HP:0002750	Delayed skeletal maturation	4567	MT-TL1	ORPHA:480
HP:0002750	Delayed skeletal maturation	50484	RRM2B	ORPHA:480
HP:0002750	Delayed skeletal maturation	29123	ANKRD11	OMIM:148050
HP:0002750	Delayed skeletal maturation	29123	ANKRD11	ORPHA:2332
HP:0002750	Delayed skeletal maturation	51025	PAM16	OMIM:613320
HP:0002750	Delayed skeletal maturation	7227	TRPS1	OMIM:190350
HP:0002750	Delayed skeletal maturation	7227	TRPS1	OMIM:190351
HP:0002750	Delayed skeletal maturation	7227	TRPS1	ORPHA:502
HP:0002750	Delayed skeletal maturation	51053	GMNN	OMIM:616835
HP:0002750	Delayed skeletal maturation	51053	GMNN	ORPHA:2554
HP:0002750	Delayed skeletal maturation	6307	MSMO1	OMIM:616834
HP:0002750	Delayed skeletal maturation	6654	SOS1	OMIM:610733
HP:0002750	Delayed skeletal maturation	6654	SOS1	ORPHA:648
HP:0002750	Delayed skeletal maturation	55081	IFT57	OMIM:617927
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:478
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:432
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:2645
HP:0002750	Delayed skeletal maturation	10371	SEMA3A	ORPHA:478
HP:0002750	Delayed skeletal maturation	81848	SPRY4	ORPHA:478
HP:0002750	Delayed skeletal maturation	81848	SPRY4	ORPHA:432
HP:0002750	Delayed skeletal maturation	23767	FLRT3	ORPHA:478
HP:0002750	Delayed skeletal maturation	128674	PROKR2	ORPHA:478
HP:0002750	Delayed skeletal maturation	128674	PROKR2	ORPHA:432
HP:0002750	Delayed skeletal maturation	79625	NDNF	ORPHA:478
HP:0002750	Delayed skeletal maturation	2253	FGF8	ORPHA:478
HP:0002750	Delayed skeletal maturation	2253	FGF8	ORPHA:432
HP:0002750	Delayed skeletal maturation	2253	FGF8	OMIM:612702
HP:0002750	Delayed skeletal maturation	389549	FEZF1	ORPHA:478
HP:0002750	Delayed skeletal maturation	1630	DCC	ORPHA:478
HP:0002750	Delayed skeletal maturation	3730	ANOS1	ORPHA:478
HP:0002750	Delayed skeletal maturation	54756	IL17RD	ORPHA:478
HP:0002750	Delayed skeletal maturation	6663	SOX10	ORPHA:478
HP:0002750	Delayed skeletal maturation	285025	CCDC141	ORPHA:478
HP:0002750	Delayed skeletal maturation	60675	PROK2	ORPHA:478
HP:0002750	Delayed skeletal maturation	60675	PROK2	ORPHA:432
HP:0002750	Delayed skeletal maturation	55636	CHD7	ORPHA:478
HP:0002750	Delayed skeletal maturation	55636	CHD7	ORPHA:432
HP:0002750	Delayed skeletal maturation	1848	DUSP6	ORPHA:478
HP:0002750	Delayed skeletal maturation	1848	DUSP6	ORPHA:432
HP:0002750	Delayed skeletal maturation	6870	TACR3	ORPHA:478
HP:0002750	Delayed skeletal maturation	6870	TACR3	ORPHA:432
HP:0002750	Delayed skeletal maturation	55717	WDR11	ORPHA:478
HP:0002750	Delayed skeletal maturation	55717	WDR11	ORPHA:432
HP:0002750	Delayed skeletal maturation	55717	WDR11	OMIM:620237
HP:0002750	Delayed skeletal maturation	9394	HS6ST1	ORPHA:478
HP:0002750	Delayed skeletal maturation	9394	HS6ST1	ORPHA:432
HP:0002750	Delayed skeletal maturation	8822	FGF17	ORPHA:478
HP:0002750	Delayed skeletal maturation	8822	FGF17	ORPHA:432
HP:0002750	Delayed skeletal maturation	6658	SOX3	ORPHA:90695
HP:0002750	Delayed skeletal maturation	6658	SOX3	ORPHA:67045
HP:0002750	Delayed skeletal maturation	950	SCARB2	ORPHA:77259
HP:0002750	Delayed skeletal maturation	7507	XPA	ORPHA:910
HP:0002750	Delayed skeletal maturation	7508	XPC	ORPHA:910
HP:0002750	Delayed skeletal maturation	1643	DDB2	ORPHA:910
HP:0002750	Delayed skeletal maturation	2072	ERCC4	ORPHA:910
HP:0002750	Delayed skeletal maturation	2073	ERCC5	ORPHA:910
HP:0002750	Delayed skeletal maturation	10075	HUWE1	OMIM:309590
HP:0002750	Delayed skeletal maturation	3480	IGF1R	ORPHA:73273
HP:0002750	Delayed skeletal maturation	3480	IGF1R	OMIM:270450
HP:0002750	Delayed skeletal maturation	3479	IGF1	ORPHA:73272
HP:0002750	Delayed skeletal maturation	3479	IGF1	OMIM:608747
HP:0002750	Delayed skeletal maturation	9361	LONP1	OMIM:600373
HP:0002750	Delayed skeletal maturation	9361	LONP1	ORPHA:1458
HP:0002750	Delayed skeletal maturation	9663	LPIN2	OMIM:609628
HP:0002750	Delayed skeletal maturation	26012	NSMF	ORPHA:432
HP:0002750	Delayed skeletal maturation	2796	GNRH1	ORPHA:432
HP:0002750	Delayed skeletal maturation	2798	GNRHR	ORPHA:432
HP:0002750	Delayed skeletal maturation	6866	TAC3	ORPHA:432
HP:0002750	Delayed skeletal maturation	4598	MVK	ORPHA:29
HP:0002750	Delayed skeletal maturation	2879	GPX4	ORPHA:93317
HP:0002750	Delayed skeletal maturation	5122	PCSK1	ORPHA:71528
HP:0002750	Delayed skeletal maturation	10785	WDR4	OMIM:618347
HP:0002750	Delayed skeletal maturation	5443	POMC	ORPHA:71526
HP:0002750	Delayed skeletal maturation	89970	RSPRY1	OMIM:616723
HP:0002750	Delayed skeletal maturation	89970	RSPRY1	ORPHA:457395
HP:0002750	Delayed skeletal maturation	79796	ALG9	OMIM:608776
HP:0002750	Delayed skeletal maturation	2690	GHR	ORPHA:314802
HP:0002750	Delayed skeletal maturation	2690	GHR	OMIM:262500
HP:0002750	Delayed skeletal maturation	2690	GHR	ORPHA:633
HP:0002750	Delayed skeletal maturation	8091	HMGA2	OMIM:618908
HP:0002750	Delayed skeletal maturation	1387	CREBBP	ORPHA:353281
HP:0002750	Delayed skeletal maturation	1387	CREBBP	OMIM:180849
HP:0002750	Delayed skeletal maturation	7200	TRH	OMIM:275120
HP:0002750	Delayed skeletal maturation	6609	SMPD1	ORPHA:77293
HP:0002750	Delayed skeletal maturation	10940	POP1	OMIM:617396
HP:0002750	Delayed skeletal maturation	254394	MCM9	OMIM:616185
HP:0002750	Delayed skeletal maturation	3549	IHH	ORPHA:63446
HP:0002750	Delayed skeletal maturation	4998	ORC1	OMIM:224690
HP:0002750	Delayed skeletal maturation	4998	ORC1	ORPHA:2554
HP:0002750	Delayed skeletal maturation	8260	NAA10	OMIM:300855
HP:0002750	Delayed skeletal maturation	8200	GDF5	ORPHA:63442
HP:0002750	Delayed skeletal maturation	8200	GDF5	OMIM:113100
HP:0002750	Delayed skeletal maturation	3643	INSR	OMIM:246200
HP:0002750	Delayed skeletal maturation	3643	INSR	ORPHA:769
HP:0002750	Delayed skeletal maturation	6659	SOX4	ORPHA:1465
HP:0002750	Delayed skeletal maturation	5977	DPF2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6601	SMARCC2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6602	SMARCD1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	196528	ARID2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6605	SMARCE1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6664	SOX11	ORPHA:1465
HP:0002750	Delayed skeletal maturation	2138	EYA1	ORPHA:2792
HP:0002750	Delayed skeletal maturation	5075	PAX1	ORPHA:2792
HP:0002750	Delayed skeletal maturation	3759	KCNJ2	OMIM:170390
HP:0002750	Delayed skeletal maturation	51608	GET4	OMIM:620200
HP:0002750	Delayed skeletal maturation	81620	CDT1	ORPHA:2554
HP:0002750	Delayed skeletal maturation	81620	CDT1	OMIM:613804
HP:0002750	Delayed skeletal maturation	5000	ORC4	ORPHA:2554
HP:0002750	Delayed skeletal maturation	5000	ORC4	OMIM:613800
HP:0002750	Delayed skeletal maturation	23594	ORC6	ORPHA:2554
HP:0002750	Delayed skeletal maturation	23594	ORC6	OMIM:613803
HP:0002750	Delayed skeletal maturation	8318	CDC45	ORPHA:2554
HP:0002750	Delayed skeletal maturation	990	CDC6	ORPHA:2554
HP:0002750	Delayed skeletal maturation	990	CDC6	OMIM:613805
HP:0002750	Delayed skeletal maturation	3265	HRAS	ORPHA:3071
HP:0002750	Delayed skeletal maturation	7703	PCGF2	OMIM:618371
HP:0002750	Delayed skeletal maturation	1583	CYP11A1	ORPHA:289548
HP:0002750	Delayed skeletal maturation	1583	CYP11A1	ORPHA:168558
HP:0002750	Delayed skeletal maturation	11342	RNF13	OMIM:618379
HP:0002750	Delayed skeletal maturation	11342	RNF13	ORPHA:544503
HP:0002750	Delayed skeletal maturation	7067	THRA	OMIM:614450
HP:0002750	Delayed skeletal maturation	29980	DONSON	OMIM:617604
HP:0002750	Delayed skeletal maturation	84701	COX4I2	OMIM:612714
HP:0002750	Delayed skeletal maturation	23476	BRD4	ORPHA:199
HP:0002750	Delayed skeletal maturation	9126	SMC3	ORPHA:199
HP:0002750	Delayed skeletal maturation	8243	SMC1A	ORPHA:199
HP:0002750	Delayed skeletal maturation	55869	HDAC8	ORPHA:199
HP:0002750	Delayed skeletal maturation	5885	RAD21	ORPHA:199
HP:0002750	Delayed skeletal maturation	9791	PTDSS1	OMIM:151050
HP:0002750	Delayed skeletal maturation	9791	PTDSS1	ORPHA:2658
HP:0002750	Delayed skeletal maturation	2033	EP300	OMIM:180849
HP:0002750	Delayed skeletal maturation	55325	UFSP2	OMIM:617974
HP:0002750	Delayed skeletal maturation	29957	SLC25A24	OMIM:612289
HP:0002750	Delayed skeletal maturation	9401	RECQL4	ORPHA:221016
HP:0002750	Delayed skeletal maturation	3845	KRAS	OMIM:609942
HP:0002750	Delayed skeletal maturation	3845	KRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	4796	TONSL	OMIM:271510
HP:0002750	Delayed skeletal maturation	2131	EXT1	ORPHA:502
HP:0002750	Delayed skeletal maturation	2887	GRB10	ORPHA:96182
HP:0002750	Delayed skeletal maturation	8567	MADD	OMIM:619004
HP:0002750	Delayed skeletal maturation	374879	ZNF699	OMIM:619488
HP:0002750	Delayed skeletal maturation	2692	GHRHR	OMIM:618157
HP:0002750	Delayed skeletal maturation	54870	QRICH1	OMIM:617982
HP:0002750	Delayed skeletal maturation	83737	ITCH	OMIM:613385
HP:0002750	Delayed skeletal maturation	9702	CEP57	OMIM:614114
HP:0002750	Delayed skeletal maturation	4780	NFE2L2	OMIM:617744
HP:0002750	Delayed skeletal maturation	5456	POU3F4	ORPHA:1435
HP:0002750	Delayed skeletal maturation	55599	RNPC3	OMIM:618160
HP:0002750	Delayed skeletal maturation	2332	FMR1	ORPHA:261483
HP:0002750	Delayed skeletal maturation	7157	TP53	OMIM:618165
HP:0002750	Delayed skeletal maturation	650	BMP2	OMIM:617877
HP:0002750	Delayed skeletal maturation	51594	NBAS	OMIM:614800
HP:0002750	Delayed skeletal maturation	3295	HSD17B4	OMIM:261515
HP:0002750	Delayed skeletal maturation	22800	RRAS2	ORPHA:648
HP:0002750	Delayed skeletal maturation	867	CBL	ORPHA:648
HP:0002750	Delayed skeletal maturation	8216	LZTR1	ORPHA:648
HP:0002750	Delayed skeletal maturation	6016	RIT1	ORPHA:648
HP:0002750	Delayed skeletal maturation	6237	RRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	5894	RAF1	ORPHA:648
HP:0002750	Delayed skeletal maturation	22808	MRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	200734	SPRED2	ORPHA:648
HP:0002750	Delayed skeletal maturation	4893	NRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	6655	SOS2	ORPHA:648
HP:0002750	Delayed skeletal maturation	5781	PTPN11	ORPHA:648
HP:0002750	Delayed skeletal maturation	5922	RASA2	ORPHA:648
HP:0002750	Delayed skeletal maturation	695	BTK	OMIM:307200
HP:0002750	Delayed skeletal maturation	7474	WNT5A	OMIM:180700
HP:0002750	Delayed skeletal maturation	1855	DVL1	OMIM:180700
HP:0002750	Delayed skeletal maturation	64802	NMNAT1	OMIM:619260
HP:0002750	Delayed skeletal maturation	26229	B3GAT3	OMIM:245600
HP:0002750	Delayed skeletal maturation	129285	PPP1R21	OMIM:619383
HP:0002750	Delayed skeletal maturation	23309	SIN3B	ORPHA:500166
HP:0002750	Delayed skeletal maturation	3735	KARS1	OMIM:619147
HP:0002750	Delayed skeletal maturation	1804	DPP6	OMIM:616311
HP:0002750	Delayed skeletal maturation	10892	MALT1	OMIM:615468
HP:0002750	Delayed skeletal maturation	3636	INPPL1	ORPHA:2746
HP:0002750	Delayed skeletal maturation	55315	SLC29A3	ORPHA:168569
HP:0002750	Delayed skeletal maturation	63901	FAM111A	ORPHA:93325
HP:0002750	Delayed skeletal maturation	80152	CENPT	OMIM:618702
HP:0000929	Abnormal skull morphology	112476	PRRT2	ORPHA:98810
HP:0000929	Abnormal skull morphology	25953	PNKD	ORPHA:98810
HP:0000929	Abnormal skull morphology	23114	NFASC	OMIM:618356
HP:0000929	Abnormal skull morphology	7407	VARS1	OMIM:617802
HP:0000929	Abnormal skull morphology	3975	LHX1	ORPHA:261265
HP:0000929	Abnormal skull morphology	6928	HNF1B	ORPHA:261265
HP:0000929	Abnormal skull morphology	8443	GNPAT	OMIM:222765
HP:0000929	Abnormal skull morphology	4703	NEB	ORPHA:171430
HP:0000929	Abnormal skull morphology	4703	NEB	OMIM:619334
HP:0000929	Abnormal skull morphology	131377	KLHL40	ORPHA:171430
HP:0000929	Abnormal skull morphology	10324	KLHL41	ORPHA:171430
HP:0000929	Abnormal skull morphology	56203	LMOD3	ORPHA:171430
HP:0000929	Abnormal skull morphology	7849	PAX8	ORPHA:95720
HP:0000929	Abnormal skull morphology	7849	PAX8	ORPHA:95713
HP:0000929	Abnormal skull morphology	7849	PAX8	ORPHA:95712
HP:0000929	Abnormal skull morphology	7253	TSHR	ORPHA:95720
HP:0000929	Abnormal skull morphology	7253	TSHR	ORPHA:95713
HP:0000929	Abnormal skull morphology	5172	SLC26A4	ORPHA:95720
HP:0000929	Abnormal skull morphology	5172	SLC26A4	ORPHA:95713
HP:0000929	Abnormal skull morphology	8241	RBM10	ORPHA:2886
HP:0000929	Abnormal skull morphology	8241	RBM10	OMIM:311900
HP:0000929	Abnormal skull morphology	857	CAV1	OMIM:606721
HP:0000929	Abnormal skull morphology	27031	NPHP3	OMIM:267010
HP:0000929	Abnormal skull morphology	79053	ALG8	OMIM:608104
HP:0000929	Abnormal skull morphology	56052	ALG1	OMIM:608540
HP:0000929	Abnormal skull morphology	26005	C2CD3	ORPHA:434179
HP:0000929	Abnormal skull morphology	26005	C2CD3	OMIM:615948
HP:0000929	Abnormal skull morphology	6659	SOX4	OMIM:618506
HP:0000929	Abnormal skull morphology	8818	DPM2	ORPHA:329178
HP:0000929	Abnormal skull morphology	114803	MYSM1	ORPHA:508542
HP:0000929	Abnormal skull morphology	8050	PDHX	OMIM:245349
HP:0000929	Abnormal skull morphology	4001	LMNB1	OMIM:619179
HP:0000929	Abnormal skull morphology	158326	FREM1	OMIM:614485
HP:0000929	Abnormal skull morphology	158326	FREM1	ORPHA:3366
HP:0000929	Abnormal skull morphology	5925	RB1	ORPHA:1587
HP:0000929	Abnormal skull morphology	23229	ARHGEF9	ORPHA:163985
HP:0000929	Abnormal skull morphology	23229	ARHGEF9	OMIM:300607
HP:0000929	Abnormal skull morphology	201163	FLCN	OMIM:610883
HP:0000929	Abnormal skull morphology	8813	DPM1	ORPHA:79322
HP:0000929	Abnormal skull morphology	5351	PLOD1	ORPHA:1900
HP:0000929	Abnormal skull morphology	84823	LMNB2	OMIM:619180
HP:0000929	Abnormal skull morphology	6857	SYT1	ORPHA:522077
HP:0000929	Abnormal skull morphology	100	ADA	ORPHA:277
HP:0000929	Abnormal skull morphology	100	ADA	OMIM:102700
HP:0000929	Abnormal skull morphology	4860	PNP	OMIM:613179
HP:0000929	Abnormal skull morphology	7454	WAS	ORPHA:906
HP:0000929	Abnormal skull morphology	7456	WIPF1	ORPHA:906
HP:0000929	Abnormal skull morphology	1493	CTLA4	ORPHA:900
HP:0000929	Abnormal skull morphology	3115	HLA-DPB1	ORPHA:900
HP:0000929	Abnormal skull morphology	5657	PRTN3	ORPHA:900
HP:0000929	Abnormal skull morphology	3113	HLA-DPA1	ORPHA:900
HP:0000929	Abnormal skull morphology	3561	IL2RG	OMIM:312863
HP:0000929	Abnormal skull morphology	2947	GSTM3	ORPHA:586
HP:0000929	Abnormal skull morphology	2729	GCLC	ORPHA:586
HP:0000929	Abnormal skull morphology	1084	CEACAM3	ORPHA:586
HP:0000929	Abnormal skull morphology	6556	SLC11A1	ORPHA:586
HP:0000929	Abnormal skull morphology	51164	DCTN4	ORPHA:586
HP:0000929	Abnormal skull morphology	3783	KCNN4	ORPHA:586
HP:0000929	Abnormal skull morphology	4282	MIF	ORPHA:586
HP:0000929	Abnormal skull morphology	1909	EDNRA	ORPHA:586
HP:0000929	Abnormal skull morphology	6550	SLC9A3	ORPHA:586
HP:0000929	Abnormal skull morphology	3162	HMOX1	ORPHA:586
HP:0000929	Abnormal skull morphology	115019	SLC26A9	ORPHA:586
HP:0000929	Abnormal skull morphology	3077	HFE	ORPHA:586
HP:0000929	Abnormal skull morphology	11254	SLC6A14	ORPHA:586
HP:0000929	Abnormal skull morphology	5265	SERPINA1	ORPHA:586
HP:0000929	Abnormal skull morphology	1080	CFTR	ORPHA:586
HP:0000929	Abnormal skull morphology	22802	CLCA4	ORPHA:586
HP:0000929	Abnormal skull morphology	4680	CEACAM6	ORPHA:586
HP:0000929	Abnormal skull morphology	1536	CYBB	ORPHA:379
HP:0000929	Abnormal skull morphology	4688	NCF2	ORPHA:379
HP:0000929	Abnormal skull morphology	1535	CYBA	ORPHA:379
HP:0000929	Abnormal skull morphology	4689	NCF4	ORPHA:379
HP:0000929	Abnormal skull morphology	79415	CYBC1	ORPHA:379
HP:0000929	Abnormal skull morphology	1991	ELANE	ORPHA:2686
HP:0000929	Abnormal skull morphology	51119	SBDS	ORPHA:811
HP:0000929	Abnormal skull morphology	6729	SRP54	ORPHA:811
HP:0000929	Abnormal skull morphology	695	BTK	ORPHA:47
HP:0000929	Abnormal skull morphology	695	BTK	OMIM:307200
HP:0000929	Abnormal skull morphology	5994	RFXAP	ORPHA:572
HP:0000929	Abnormal skull morphology	4261	CIITA	ORPHA:572
HP:0000929	Abnormal skull morphology	5993	RFX5	ORPHA:572
HP:0000929	Abnormal skull morphology	8625	RFXANK	ORPHA:572
HP:0000929	Abnormal skull morphology	5692	PSMB4	OMIM:617591
HP:0000929	Abnormal skull morphology	5698	PSMB9	OMIM:617591
HP:0000929	Abnormal skull morphology	3394	IRF8	OMIM:226990
HP:0000929	Abnormal skull morphology	7852	CXCR4	ORPHA:51636
HP:0000929	Abnormal skull morphology	51314	NME8	OMIM:610852
HP:0000929	Abnormal skull morphology	352909	DNAAF3	OMIM:606763
HP:0000929	Abnormal skull morphology	3321	IGSF3	OMIM:149700
HP:0000929	Abnormal skull morphology	6929	TCF3	ORPHA:33110
HP:0000929	Abnormal skull morphology	973	CD79A	ORPHA:33110
HP:0000929	Abnormal skull morphology	974	CD79B	ORPHA:33110
HP:0000929	Abnormal skull morphology	3543	IGLL1	ORPHA:33110
HP:0000929	Abnormal skull morphology	3507	IGHM	ORPHA:33110
HP:0000929	Abnormal skull morphology	29760	BLNK	ORPHA:33110
HP:0000929	Abnormal skull morphology	56262	LRRC8A	ORPHA:33110
HP:0000929	Abnormal skull morphology	4750	NEK1	OMIM:263520
HP:0000929	Abnormal skull morphology	55209	SETD5	ORPHA:404440
HP:0000929	Abnormal skull morphology	55209	SETD5	OMIM:615761
HP:0000929	Abnormal skull morphology	10606	PAICS	OMIM:619859
HP:0000929	Abnormal skull morphology	4323	MMP14	ORPHA:371428
HP:0000929	Abnormal skull morphology	54476	RNF216	ORPHA:1173
HP:0000929	Abnormal skull morphology	10908	PNPLA6	ORPHA:1173
HP:0000929	Abnormal skull morphology	10908	PNPLA6	ORPHA:2377
HP:0000929	Abnormal skull morphology	8239	USP9X	ORPHA:480880
HP:0000929	Abnormal skull morphology	8239	USP9X	OMIM:300968
HP:0000929	Abnormal skull morphology	10236	HNRNPR	OMIM:620073
HP:0000929	Abnormal skull morphology	253959	RALGAPA1	OMIM:618797
HP:0000929	Abnormal skull morphology	51322	WAC	OMIM:616708
HP:0000929	Abnormal skull morphology	60681	FKBP10	OMIM:610968
HP:0000929	Abnormal skull morphology	123016	TTC8	OMIM:615985
HP:0000929	Abnormal skull morphology	6909	TBX2	OMIM:618223
HP:0000929	Abnormal skull morphology	3313	HSPA9	OMIM:616854
HP:0000929	Abnormal skull morphology	79644	SRD5A3	OMIM:612379
HP:0000929	Abnormal skull morphology	23495	TNFRSF13B	ORPHA:1572
HP:0000929	Abnormal skull morphology	4790	NFKB1	ORPHA:1572
HP:0000929	Abnormal skull morphology	4791	NFKB2	ORPHA:1572
HP:0000929	Abnormal skull morphology	115650	TNFRSF13C	ORPHA:1572
HP:0000929	Abnormal skull morphology	1380	CR2	ORPHA:1572
HP:0000929	Abnormal skull morphology	8742	TNFSF12	ORPHA:1572
HP:0000929	Abnormal skull morphology	5580	PRKCD	ORPHA:1572
HP:0000929	Abnormal skull morphology	930	CD19	ORPHA:1572
HP:0000929	Abnormal skull morphology	29851	ICOS	ORPHA:1572
HP:0000929	Abnormal skull morphology	931	MS4A1	ORPHA:1572
HP:0000929	Abnormal skull morphology	975	CD81	ORPHA:1572
HP:0000929	Abnormal skull morphology	359948	IRF2BP2	ORPHA:1572
HP:0000929	Abnormal skull morphology	10771	ZMYND11	OMIM:616083
HP:0000929	Abnormal skull morphology	4858	NOVA2	OMIM:618859
HP:0000929	Abnormal skull morphology	6448	SGSH	OMIM:252900
HP:0000929	Abnormal skull morphology	4669	NAGLU	OMIM:252920
HP:0000929	Abnormal skull morphology	51399	TRAPPC4	OMIM:618741
HP:0000929	Abnormal skull morphology	51569	UFM1	OMIM:617899
HP:0000929	Abnormal skull morphology	10059	DNM1L	OMIM:614388
HP:0000929	Abnormal skull morphology	6228	RPS23	OMIM:617412
HP:0000929	Abnormal skull morphology	2073	ERCC5	OMIM:616570
HP:0000929	Abnormal skull morphology	2073	ERCC5	ORPHA:1466
HP:0000929	Abnormal skull morphology	2073	ERCC5	ORPHA:220295
HP:0000929	Abnormal skull morphology	2073	ERCC5	OMIM:278780
HP:0000929	Abnormal skull morphology	2073	ERCC5	ORPHA:910
HP:0000929	Abnormal skull morphology	478	ATP1A3	OMIM:619606
HP:0000929	Abnormal skull morphology	478	ATP1A3	ORPHA:442835
HP:0000929	Abnormal skull morphology	166378	AFG2A	OMIM:616577
HP:0000929	Abnormal skull morphology	477	ATP1A2	OMIM:619602
HP:0000929	Abnormal skull morphology	477	ATP1A2	ORPHA:442835
HP:0000929	Abnormal skull morphology	84520	GON7	OMIM:619603
HP:0000929	Abnormal skull morphology	79693	YRDC	OMIM:619609
HP:0000929	Abnormal skull morphology	6884	TAF13	OMIM:617432
HP:0000929	Abnormal skull morphology	6884	TAF13	ORPHA:2512
HP:0000929	Abnormal skull morphology	79029	AFG2B	OMIM:619616
HP:0000929	Abnormal skull morphology	10111	RAD50	OMIM:613078
HP:0000929	Abnormal skull morphology	85465	SELENOI	OMIM:618768
HP:0000929	Abnormal skull morphology	85465	SELENOI	ORPHA:506353
HP:0000929	Abnormal skull morphology	55131	RBM28	ORPHA:157954
HP:0000929	Abnormal skull morphology	55131	RBM28	OMIM:612079
HP:0000929	Abnormal skull morphology	55768	NGLY1	OMIM:615273
HP:0000929	Abnormal skull morphology	55621	TRMT1	OMIM:618302
HP:0000929	Abnormal skull morphology	9289	ADGRG1	ORPHA:101070
HP:0000929	Abnormal skull morphology	9289	ADGRG1	ORPHA:98889
HP:0000929	Abnormal skull morphology	54828	BCAS3	OMIM:619641
HP:0000929	Abnormal skull morphology	6305	SBF1	OMIM:615284
HP:0000929	Abnormal skull morphology	3800	KIF5C	OMIM:615282
HP:0000929	Abnormal skull morphology	2232	FDXR	ORPHA:543470
HP:0000929	Abnormal skull morphology	2904	GRIN2B	OMIM:616139
HP:0000929	Abnormal skull morphology	2904	GRIN2B	OMIM:613970
HP:0000929	Abnormal skull morphology	79971	WLS	OMIM:619648
HP:0000929	Abnormal skull morphology	5917	RARS1	OMIM:616140
HP:0000929	Abnormal skull morphology	5917	RARS1	ORPHA:438114
HP:0000929	Abnormal skull morphology	54916	TMEM260	OMIM:617478
HP:0000929	Abnormal skull morphology	25836	NIPBL	OMIM:122470
HP:0000929	Abnormal skull morphology	25836	NIPBL	ORPHA:199
HP:0000929	Abnormal skull morphology	23499	MACF1	OMIM:618325
HP:0000929	Abnormal skull morphology	120	ADD3	OMIM:617008
HP:0000929	Abnormal skull morphology	3479	IGF1	ORPHA:73272
HP:0000929	Abnormal skull morphology	3479	IGF1	OMIM:608747
HP:0000929	Abnormal skull morphology	3155	HMGCL	ORPHA:20
HP:0000929	Abnormal skull morphology	3155	HMGCL	OMIM:246450
HP:0000929	Abnormal skull morphology	2775	GNAO1	OMIM:617493
HP:0000929	Abnormal skull morphology	2775	GNAO1	ORPHA:1934
HP:0000929	Abnormal skull morphology	10785	WDR4	OMIM:618346
HP:0000929	Abnormal skull morphology	10785	WDR4	OMIM:618347
HP:0000929	Abnormal skull morphology	10785	WDR4	ORPHA:2065
HP:0000929	Abnormal skull morphology	1798	DPAGT1	OMIM:608093
HP:0000929	Abnormal skull morphology	1798	DPAGT1	ORPHA:86309
HP:0000929	Abnormal skull morphology	57122	NUP107	OMIM:618348
HP:0000929	Abnormal skull morphology	57122	NUP107	ORPHA:243
HP:0000929	Abnormal skull morphology	57122	NUP107	ORPHA:2065
HP:0000929	Abnormal skull morphology	55746	NUP133	OMIM:618349
HP:0000929	Abnormal skull morphology	55746	NUP133	ORPHA:2065
HP:0000929	Abnormal skull morphology	2972	BRF1	ORPHA:444072
HP:0000929	Abnormal skull morphology	2972	BRF1	OMIM:616202
HP:0000929	Abnormal skull morphology	154881	KCTD7	OMIM:611726
HP:0000929	Abnormal skull morphology	154881	KCTD7	ORPHA:263516
HP:0000929	Abnormal skull morphology	29925	GMPPB	ORPHA:370968
HP:0000929	Abnormal skull morphology	29925	GMPPB	ORPHA:370959
HP:0000929	Abnormal skull morphology	29925	GMPPB	ORPHA:363623
HP:0000929	Abnormal skull morphology	29925	GMPPB	OMIM:615350
HP:0000929	Abnormal skull morphology	29925	GMPPB	OMIM:615351
HP:0000929	Abnormal skull morphology	29925	GMPPB	OMIM:615352
HP:0000929	Abnormal skull morphology	84340	GFM2	ORPHA:565624
HP:0000929	Abnormal skull morphology	84340	GFM2	OMIM:618397
HP:0000929	Abnormal skull morphology	10588	MTHFS	OMIM:618367
HP:0000929	Abnormal skull morphology	92255	LMBRD2	OMIM:619694
HP:0000929	Abnormal skull morphology	3054	HCFC1	OMIM:309541
HP:0000929	Abnormal skull morphology	2019	EN1	OMIM:619218
HP:0000929	Abnormal skull morphology	3431	SP110	OMIM:235550
HP:0000929	Abnormal skull morphology	3431	SP110	ORPHA:79124
HP:0000929	Abnormal skull morphology	51608	GET4	OMIM:620200
HP:0000929	Abnormal skull morphology	23111	SPART	ORPHA:101000
HP:0000929	Abnormal skull morphology	11342	RNF13	OMIM:618379
HP:0000929	Abnormal skull morphology	11342	RNF13	ORPHA:544503
HP:0000929	Abnormal skull morphology	8802	SUCLG1	ORPHA:17
HP:0000929	Abnormal skull morphology	6304	SATB1	OMIM:619228
HP:0000929	Abnormal skull morphology	6304	SATB1	OMIM:619229
HP:0000929	Abnormal skull morphology	2707	GJB3	ORPHA:317
HP:0000929	Abnormal skull morphology	2531	KDSR	ORPHA:317
HP:0000929	Abnormal skull morphology	127534	GJB4	ORPHA:317
HP:0000929	Abnormal skull morphology	3028	HSD17B10	ORPHA:391428
HP:0000929	Abnormal skull morphology	84265	POLR3GL	OMIM:619234
HP:0000929	Abnormal skull morphology	134218	DNAJC21	OMIM:617052
HP:0000929	Abnormal skull morphology	8452	CUL3	OMIM:619239
HP:0000929	Abnormal skull morphology	1457	CSNK2A1	OMIM:617062
HP:0000929	Abnormal skull morphology	203068	TUBB	OMIM:156610
HP:0000929	Abnormal skull morphology	203068	TUBB	ORPHA:2505
HP:0000929	Abnormal skull morphology	55640	FLVCR2	OMIM:225790
HP:0000929	Abnormal skull morphology	91875	TTC5	OMIM:619244
HP:0000929	Abnormal skull morphology	93587	TRMT10A	ORPHA:391408
HP:0000929	Abnormal skull morphology	93587	TRMT10A	OMIM:616033
HP:0000929	Abnormal skull morphology	84919	PPP1R15B	ORPHA:391408
HP:0000929	Abnormal skull morphology	84919	PPP1R15B	OMIM:616817
HP:0000929	Abnormal skull morphology	201595	STT3B	ORPHA:370924
HP:0000929	Abnormal skull morphology	201595	STT3B	OMIM:615597
HP:0000929	Abnormal skull morphology	10436	EMG1	OMIM:211180
HP:0000929	Abnormal skull morphology	10436	EMG1	ORPHA:1270
HP:0000929	Abnormal skull morphology	6748	SSR4	ORPHA:370927
HP:0000929	Abnormal skull morphology	6748	SSR4	OMIM:300934
HP:0000929	Abnormal skull morphology	10479	SLC9A6	ORPHA:85278
HP:0000929	Abnormal skull morphology	10479	SLC9A6	OMIM:300243
HP:0000929	Abnormal skull morphology	1315	COPB1	OMIM:619255
HP:0000929	Abnormal skull morphology	8831	SYNGAP1	OMIM:612621
HP:0000929	Abnormal skull morphology	8831	SYNGAP1	ORPHA:442835
HP:0000929	Abnormal skull morphology	8831	SYNGAP1	ORPHA:1942
HP:0000929	Abnormal skull morphology	8831	SYNGAP1	ORPHA:544254
HP:0000929	Abnormal skull morphology	54187	NANS	OMIM:610442
HP:0000929	Abnormal skull morphology	1968	EIF2S3	ORPHA:85282
HP:0000929	Abnormal skull morphology	1968	EIF2S3	OMIM:300148
HP:0000929	Abnormal skull morphology	81615	TMEM163	OMIM:620243
HP:0000929	Abnormal skull morphology	64131	XYLT1	ORPHA:370930
HP:0000929	Abnormal skull morphology	64131	XYLT1	OMIM:615777
HP:0000929	Abnormal skull morphology	116150	NUS1	OMIM:617082
HP:0000929	Abnormal skull morphology	116150	NUS1	ORPHA:442835
HP:0000929	Abnormal skull morphology	5138	PDE2A	OMIM:619150
HP:0000929	Abnormal skull morphology	64374	SIL1	OMIM:248800
HP:0000929	Abnormal skull morphology	64374	SIL1	ORPHA:559
HP:0000929	Abnormal skull morphology	26960	NBEA	OMIM:619157
HP:0000929	Abnormal skull morphology	26128	KIFBP	OMIM:609460
HP:0000929	Abnormal skull morphology	26128	KIFBP	ORPHA:66629
HP:0000929	Abnormal skull morphology	781	CACNA2D1	OMIM:620149
HP:0000929	Abnormal skull morphology	781	CACNA2D1	ORPHA:442835
HP:0000929	Abnormal skull morphology	10093	ARPC4	OMIM:620141
HP:0000929	Abnormal skull morphology	9640	ZNF592	ORPHA:83472
HP:0000929	Abnormal skull morphology	84942	WDR73	ORPHA:83472
HP:0000929	Abnormal skull morphology	84942	WDR73	ORPHA:2065
HP:0000929	Abnormal skull morphology	84942	WDR73	OMIM:251300
HP:0000929	Abnormal skull morphology	224	ALDH3A2	ORPHA:816
HP:0000929	Abnormal skull morphology	3242	HPD	OMIM:140350
HP:0000929	Abnormal skull morphology	338657	CENATAC	OMIM:620153
HP:0000929	Abnormal skull morphology	4718	NDUFC2	OMIM:619170
HP:0000929	Abnormal skull morphology	1738	DLD	ORPHA:2394
HP:0000929	Abnormal skull morphology	1738	DLD	OMIM:246900
HP:0000929	Abnormal skull morphology	92579	G6PC3	OMIM:612541
HP:0000929	Abnormal skull morphology	222663	SCUBE3	OMIM:619184
HP:0000929	Abnormal skull morphology	10367	MICU1	ORPHA:401768
HP:0000929	Abnormal skull morphology	10367	MICU1	OMIM:615673
HP:0000929	Abnormal skull morphology	63894	VIPAS39	OMIM:613404
HP:0000929	Abnormal skull morphology	53834	FGFRL1	OMIM:194190
HP:0000929	Abnormal skull morphology	84947	SERAC1	OMIM:614739
HP:0000929	Abnormal skull morphology	54084	TSPEAR	OMIM:620173
HP:0000929	Abnormal skull morphology	91754	NEK9	ORPHA:64754
HP:0000929	Abnormal skull morphology	23345	SYNE1	ORPHA:319332
HP:0000929	Abnormal skull morphology	3675	ITGA3	OMIM:614748
HP:0000929	Abnormal skull morphology	55343	SLC35C1	OMIM:266265
HP:0000929	Abnormal skull morphology	55343	SLC35C1	ORPHA:99843
HP:0000929	Abnormal skull morphology	1737	DLAT	OMIM:245348
HP:0000929	Abnormal skull morphology	1737	DLAT	ORPHA:79244
HP:0000929	Abnormal skull morphology	6605	SMARCE1	OMIM:616938
HP:0000929	Abnormal skull morphology	6605	SMARCE1	ORPHA:1465
HP:0000929	Abnormal skull morphology	158	ADSL	ORPHA:46
HP:0000929	Abnormal skull morphology	158	ADSL	OMIM:103050
HP:0000929	Abnormal skull morphology	51567	TDP2	OMIM:616949
HP:0000929	Abnormal skull morphology	6567	SLC16A2	ORPHA:59
HP:0000929	Abnormal skull morphology	6567	SLC16A2	OMIM:300523
HP:0000929	Abnormal skull morphology	9276	COPB2	OMIM:617800
HP:0000929	Abnormal skull morphology	9276	COPB2	OMIM:619884
HP:0000929	Abnormal skull morphology	9276	COPB2	ORPHA:2512
HP:0000929	Abnormal skull morphology	22907	DHX30	OMIM:617804
HP:0000929	Abnormal skull morphology	9894	TELO2	OMIM:616954
HP:0000929	Abnormal skull morphology	9230	RAB11B	OMIM:617807
HP:0000929	Abnormal skull morphology	7403	KDM6A	ORPHA:2322
HP:0000929	Abnormal skull morphology	7403	KDM6A	OMIM:300867
HP:0000929	Abnormal skull morphology	7403	KDM6A	OMIM:147920
HP:0000929	Abnormal skull morphology	3097	HIVEP2	OMIM:616977
HP:0000929	Abnormal skull morphology	9837	GINS1	OMIM:617827
HP:0000929	Abnormal skull morphology	79840	NHEJ1	ORPHA:169079
HP:0000929	Abnormal skull morphology	2067	ERCC1	ORPHA:1466
HP:0000929	Abnormal skull morphology	2067	ERCC1	OMIM:610758
HP:0000929	Abnormal skull morphology	6597	SMARCA4	ORPHA:1465
HP:0000929	Abnormal skull morphology	6597	SMARCA4	OMIM:614609
HP:0000929	Abnormal skull morphology	8289	ARID1A	ORPHA:1465
HP:0000929	Abnormal skull morphology	8289	ARID1A	OMIM:614607
HP:0000929	Abnormal skull morphology	6601	SMARCC2	ORPHA:1465
HP:0000929	Abnormal skull morphology	6664	SOX11	ORPHA:1465
HP:0000929	Abnormal skull morphology	6664	SOX11	OMIM:615866
HP:0000929	Abnormal skull morphology	5723	PSPH	ORPHA:79350
HP:0000929	Abnormal skull morphology	5723	PSPH	OMIM:614023
HP:0000929	Abnormal skull morphology	26227	PHGDH	ORPHA:79351
HP:0000929	Abnormal skull morphology	64840	PORCN	OMIM:305600
HP:0000929	Abnormal skull morphology	55180	LINS1	OMIM:614340
HP:0000929	Abnormal skull morphology	80152	CENPT	OMIM:618702
HP:0000929	Abnormal skull morphology	6697	SPR	ORPHA:70594
HP:0000929	Abnormal skull morphology	6697	SPR	OMIM:612716
HP:0000929	Abnormal skull morphology	953	ENTPD1	OMIM:615683
HP:0000929	Abnormal skull morphology	953	ENTPD1	ORPHA:401810
HP:0000929	Abnormal skull morphology	2893	GRIA4	OMIM:617864
HP:0000929	Abnormal skull morphology	55691	FRMD4A	ORPHA:466688
HP:0000929	Abnormal skull morphology	54802	TRIT1	OMIM:617873
HP:0000929	Abnormal skull morphology	4724	NDUFS4	OMIM:252010
HP:0000929	Abnormal skull morphology	4724	NDUFS4	ORPHA:2609
HP:0000929	Abnormal skull morphology	84700	MYO18B	OMIM:616549
HP:0000929	Abnormal skull morphology	8086	AAAS	OMIM:231550
HP:0000929	Abnormal skull morphology	8086	AAAS	ORPHA:869
HP:0000929	Abnormal skull morphology	51075	TMX2	OMIM:618730
HP:0000929	Abnormal skull morphology	65057	ACD	OMIM:616553
HP:0000929	Abnormal skull morphology	65057	ACD	ORPHA:3322
HP:0000929	Abnormal skull morphology	51763	INPP5K	OMIM:617404
HP:0000929	Abnormal skull morphology	51763	INPP5K	ORPHA:559
HP:0000929	Abnormal skull morphology	246329	STAC3	OMIM:255995
HP:0000929	Abnormal skull morphology	6873	TAF2	OMIM:615599
HP:0000929	Abnormal skull morphology	1355	COX15	OMIM:615119
HP:0000929	Abnormal skull morphology	5361	PLXNA1	OMIM:619955
HP:0000929	Abnormal skull morphology	4047	LSS	ORPHA:2850
HP:0000929	Abnormal skull morphology	4047	LSS	OMIM:618840
HP:0000929	Abnormal skull morphology	197	AHSG	ORPHA:2850
HP:0000929	Abnormal skull morphology	3694	ITGB6	ORPHA:2850
HP:0000929	Abnormal skull morphology	28960	DCPS	OMIM:616459
HP:0000929	Abnormal skull morphology	10559	SLC35A1	OMIM:603585
HP:0000929	Abnormal skull morphology	80153	EDC3	OMIM:616460
HP:0000929	Abnormal skull morphology	816	CAMK2B	OMIM:617799
HP:0000929	Abnormal skull morphology	5155	PDGFB	ORPHA:1980
HP:0000929	Abnormal skull morphology	9213	XPR1	ORPHA:1980
HP:0000929	Abnormal skull morphology	57462	MYORG	ORPHA:1980
HP:0000929	Abnormal skull morphology	6575	SLC20A2	ORPHA:1980
HP:0000929	Abnormal skull morphology	58494	JAM2	ORPHA:1980
HP:0000929	Abnormal skull morphology	1501	CTNND2	ORPHA:281
HP:0000929	Abnormal skull morphology	9037	SEMA5A	ORPHA:281
HP:0000929	Abnormal skull morphology	3737	KCNA2	ORPHA:442835
HP:0000929	Abnormal skull morphology	1759	DNM1	ORPHA:442835
HP:0000929	Abnormal skull morphology	8120	AP3B2	ORPHA:442835
HP:0000929	Abnormal skull morphology	8120	AP3B2	OMIM:617276
HP:0000929	Abnormal skull morphology	10991	SLC38A3	ORPHA:442835
HP:0000929	Abnormal skull morphology	10991	SLC38A3	OMIM:619881
HP:0000929	Abnormal skull morphology	51343	FZR1	ORPHA:442835
HP:0000929	Abnormal skull morphology	22906	TRAK1	ORPHA:442835
HP:0000929	Abnormal skull morphology	22906	TRAK1	OMIM:618201
HP:0000929	Abnormal skull morphology	2566	GABRG2	ORPHA:442835
HP:0000929	Abnormal skull morphology	1917	EEF1A2	ORPHA:442835
HP:0000929	Abnormal skull morphology	1917	EEF1A2	OMIM:616393
HP:0000929	Abnormal skull morphology	2561	GABRB2	ORPHA:442835
HP:0000929	Abnormal skull morphology	7532	YWHAG	ORPHA:442835
HP:0000929	Abnormal skull morphology	79876	UBA5	ORPHA:442835
HP:0000929	Abnormal skull morphology	6328	SCN3A	ORPHA:442835
HP:0000929	Abnormal skull morphology	6328	SCN3A	OMIM:617935
HP:0000929	Abnormal skull morphology	6328	SCN3A	OMIM:617938
HP:0000929	Abnormal skull morphology	2558	GABRA5	ORPHA:442835
HP:0000929	Abnormal skull morphology	2906	GRIN2D	ORPHA:442835
HP:0000929	Abnormal skull morphology	2906	GRIN2D	OMIM:617162
HP:0000929	Abnormal skull morphology	10659	CELF2	ORPHA:442835
HP:0000929	Abnormal skull morphology	774	CACNA1B	ORPHA:442835
HP:0000929	Abnormal skull morphology	1213	CLTC	ORPHA:442835
HP:0000929	Abnormal skull morphology	23334	SZT2	ORPHA:442835
HP:0000929	Abnormal skull morphology	51412	ACTL6B	ORPHA:442835
HP:0000929	Abnormal skull morphology	51412	ACTL6B	OMIM:618468
HP:0000929	Abnormal skull morphology	51412	ACTL6B	OMIM:618470
HP:0000929	Abnormal skull morphology	348980	HCN1	ORPHA:442835
HP:0000929	Abnormal skull morphology	348980	HCN1	OMIM:618482
HP:0000929	Abnormal skull morphology	6506	SLC1A2	ORPHA:442835
HP:0000929	Abnormal skull morphology	6506	SLC1A2	OMIM:617105
HP:0000929	Abnormal skull morphology	8867	SYNJ1	ORPHA:442835
HP:0000929	Abnormal skull morphology	2258	FGF13	ORPHA:442835
HP:0000929	Abnormal skull morphology	3745	KCNB1	ORPHA:442835
HP:0000929	Abnormal skull morphology	284111	SLC13A5	ORPHA:442835
HP:0000929	Abnormal skull morphology	284111	SLC13A5	OMIM:615905
HP:0000929	Abnormal skull morphology	25977	NECAP1	ORPHA:442835
HP:0000929	Abnormal skull morphology	22866	CNKSR2	ORPHA:442835
HP:0000929	Abnormal skull morphology	2555	GABRA2	ORPHA:442835
HP:0000929	Abnormal skull morphology	2555	GABRA2	OMIM:618557
HP:0000929	Abnormal skull morphology	55152	DALRD3	ORPHA:442835
HP:0000929	Abnormal skull morphology	55152	DALRD3	OMIM:618910
HP:0000929	Abnormal skull morphology	773	CACNA1A	ORPHA:442835
HP:0000929	Abnormal skull morphology	4915	NTRK2	ORPHA:442835
HP:0000929	Abnormal skull morphology	25973	PARS2	ORPHA:442835
HP:0000929	Abnormal skull morphology	23097	CDK19	ORPHA:442835
HP:0000929	Abnormal skull morphology	64801	ARV1	ORPHA:442835
HP:0000929	Abnormal skull morphology	79947	DHDDS	ORPHA:442835
HP:0000929	Abnormal skull morphology	2257	FGF12	ORPHA:442835
HP:0000929	Abnormal skull morphology	29081	METTL5	OMIM:618665
HP:0000929	Abnormal skull morphology	29081	METTL5	ORPHA:2512
HP:0000929	Abnormal skull morphology	7862	BRPF1	OMIM:617333
HP:0000929	Abnormal skull morphology	286	ANK1	ORPHA:251066
HP:0000929	Abnormal skull morphology	5860	QDPR	ORPHA:226
HP:0000929	Abnormal skull morphology	5860	QDPR	OMIM:261630
HP:0000929	Abnormal skull morphology	7385	UQCRC2	OMIM:615160
HP:0000929	Abnormal skull morphology	7750	ZMYM2	OMIM:619522
HP:0000929	Abnormal skull morphology	9922	IQSEC1	OMIM:618687
HP:0000929	Abnormal skull morphology	85365	ALG2	OMIM:607906
HP:0000929	Abnormal skull morphology	85365	ALG2	ORPHA:79326
HP:0000929	Abnormal skull morphology	6323	SCN1A	ORPHA:1942
HP:0000929	Abnormal skull morphology	340533	NEXMIF	ORPHA:1942
HP:0000929	Abnormal skull morphology	1106	CHD2	ORPHA:1942
HP:0000929	Abnormal skull morphology	6529	SLC6A1	ORPHA:1942
HP:0000929	Abnormal skull morphology	29893	PSMC3IP	ORPHA:243
HP:0000929	Abnormal skull morphology	171568	POLR3H	ORPHA:243
HP:0000929	Abnormal skull morphology	2516	NR5A1	ORPHA:243
HP:0000929	Abnormal skull morphology	125150	ZSWIM7	ORPHA:243
HP:0000929	Abnormal skull morphology	9210	BMP15	ORPHA:243
HP:0000929	Abnormal skull morphology	23514	SPIDR	ORPHA:243
HP:0000929	Abnormal skull morphology	2492	FSHR	ORPHA:243
HP:0000929	Abnormal skull morphology	646	BNC1	ORPHA:243
HP:0000929	Abnormal skull morphology	133686	NADK2	OMIM:616034
HP:0000929	Abnormal skull morphology	133686	NADK2	ORPHA:431361
HP:0000929	Abnormal skull morphology	3736	KCNA1	ORPHA:1934
HP:0000929	Abnormal skull morphology	81603	TRIM8	ORPHA:1934
HP:0000929	Abnormal skull morphology	81603	TRIM8	OMIM:619428
HP:0000929	Abnormal skull morphology	79751	SLC25A22	ORPHA:1934
HP:0000929	Abnormal skull morphology	150094	SIK1	ORPHA:1934
HP:0000929	Abnormal skull morphology	2917	GRM7	ORPHA:1934
HP:0000929	Abnormal skull morphology	2917	GRM7	OMIM:618922
HP:0000929	Abnormal skull morphology	6326	SCN2A	ORPHA:1934
HP:0000929	Abnormal skull morphology	51227	PIGP	ORPHA:1934
HP:0000929	Abnormal skull morphology	51227	PIGP	OMIM:617599
HP:0000929	Abnormal skull morphology	6324	SCN1B	ORPHA:1934
HP:0000929	Abnormal skull morphology	4761	NEUROD2	ORPHA:1934
HP:0000929	Abnormal skull morphology	8803	SUCLA2	ORPHA:1933
HP:0000929	Abnormal skull morphology	51750	RTEL1	OMIM:615190
HP:0000929	Abnormal skull morphology	51750	RTEL1	ORPHA:3322
HP:0000929	Abnormal skull morphology	498	ATP5F1A	OMIM:616045
HP:0000929	Abnormal skull morphology	4729	NDUFV2	OMIM:618229
HP:0000929	Abnormal skull morphology	4729	NDUFV2	ORPHA:2609
HP:0000929	Abnormal skull morphology	4695	NDUFA2	OMIM:618235
HP:0000929	Abnormal skull morphology	9179	AP4M1	OMIM:612936
HP:0000929	Abnormal skull morphology	9179	AP4M1	ORPHA:280763
HP:0000929	Abnormal skull morphology	11274	USP18	OMIM:617397
HP:0000929	Abnormal skull morphology	340665	CYP26C1	ORPHA:398189
HP:0000929	Abnormal skull morphology	2898	GRIK2	OMIM:619580
HP:0000929	Abnormal skull morphology	80324	PUS1	OMIM:600462
HP:0000929	Abnormal skull morphology	80324	PUS1	ORPHA:2598
HP:0000929	Abnormal skull morphology	10524	KAT5	OMIM:619103
HP:0000929	Abnormal skull morphology	9451	EIF2AK3	OMIM:226980
HP:0000929	Abnormal skull morphology	9451	EIF2AK3	ORPHA:1667
HP:0000929	Abnormal skull morphology	8635	RNASET2	OMIM:612951
HP:0000929	Abnormal skull morphology	55526	DHTKD1	OMIM:204750
HP:0000929	Abnormal skull morphology	1528	CYB5A	ORPHA:621
HP:0000929	Abnormal skull morphology	1727	CYB5R3	ORPHA:621
HP:0000929	Abnormal skull morphology	1727	CYB5R3	OMIM:250800
HP:0000929	Abnormal skull morphology	90522	YIF1B	OMIM:619125
HP:0000929	Abnormal skull morphology	55755	CDK5RAP2	OMIM:604804
HP:0000929	Abnormal skull morphology	55755	CDK5RAP2	ORPHA:2512
HP:0000929	Abnormal skull morphology	6472	SHMT2	OMIM:619121
HP:0000929	Abnormal skull morphology	90416	CCDC32	OMIM:619123
HP:0000929	Abnormal skull morphology	9895	TECPR2	ORPHA:320385
HP:0000929	Abnormal skull morphology	9895	TECPR2	OMIM:615031
HP:0000929	Abnormal skull morphology	3739	KCNA4	OMIM:618284
HP:0000929	Abnormal skull morphology	3735	KARS1	OMIM:619147
HP:0000929	Abnormal skull morphology	8665	EIF3F	OMIM:618295
HP:0000929	Abnormal skull morphology	221692	PHACTR1	OMIM:618298
HP:0000929	Abnormal skull morphology	10134	BCAP31	OMIM:300475
HP:0000929	Abnormal skull morphology	10134	BCAP31	ORPHA:369939
HP:0000929	Abnormal skull morphology	3763	KCNJ6	ORPHA:435628
HP:0000929	Abnormal skull morphology	3763	KCNJ6	OMIM:614098
HP:0000929	Abnormal skull morphology	7109	TRAPPC10	OMIM:620027
HP:0000929	Abnormal skull morphology	7109	TRAPPC10	ORPHA:2512
HP:0000929	Abnormal skull morphology	55325	UFSP2	OMIM:620028
HP:0000929	Abnormal skull morphology	10274	STAG1	ORPHA:502434
HP:0000929	Abnormal skull morphology	10274	STAG1	OMIM:617635
HP:0000929	Abnormal skull morphology	1119	CHKA	OMIM:620023
HP:0000929	Abnormal skull morphology	5111	PCNA	OMIM:615919
HP:0000929	Abnormal skull morphology	5111	PCNA	ORPHA:438134
HP:0000929	Abnormal skull morphology	57176	VARS2	OMIM:615917
HP:0000929	Abnormal skull morphology	183	AGT	OMIM:267430
HP:0000929	Abnormal skull morphology	5972	REN	OMIM:267430
HP:0000929	Abnormal skull morphology	185	AGTR1	OMIM:267430
HP:0000929	Abnormal skull morphology	1636	ACE	OMIM:267430
HP:0000929	Abnormal skull morphology	5689	PSMB1	OMIM:620038
HP:0000929	Abnormal skull morphology	23431	AP4E1	OMIM:613744
HP:0000929	Abnormal skull morphology	23431	AP4E1	ORPHA:280763
HP:0000929	Abnormal skull morphology	10472	ZBTB18	ORPHA:36367
HP:0000929	Abnormal skull morphology	10472	ZBTB18	OMIM:612337
HP:0000929	Abnormal skull morphology	7298	TYMS	OMIM:620040
HP:0000929	Abnormal skull morphology	1351	COX8A	OMIM:619059
HP:0000929	Abnormal skull morphology	100131801	PET100	OMIM:619055
HP:0000929	Abnormal skull morphology	5428	POLG	ORPHA:726
HP:0000929	Abnormal skull morphology	10382	TUBB4A	OMIM:612438
HP:0000929	Abnormal skull morphology	83475	DOHH	OMIM:620066
HP:0000929	Abnormal skull morphology	92667	MGME1	ORPHA:352447
HP:0000929	Abnormal skull morphology	92667	MGME1	OMIM:615084
HP:0000929	Abnormal skull morphology	55027	HEATR3	OMIM:620072
HP:0000929	Abnormal skull morphology	5591	PRKDC	OMIM:615966
HP:0000929	Abnormal skull morphology	25828	TXN2	OMIM:616811
HP:0000929	Abnormal skull morphology	22880	MORC2	OMIM:619090
HP:0000929	Abnormal skull morphology	22880	MORC2	ORPHA:466768
HP:0000929	Abnormal skull morphology	5073	PARN	ORPHA:3322
HP:0000929	Abnormal skull morphology	5073	PARN	OMIM:616353
HP:0000929	Abnormal skull morphology	7015	TERT	ORPHA:3322
HP:0000929	Abnormal skull morphology	7015	TERT	OMIM:613989
HP:0000929	Abnormal skull morphology	26277	TINF2	ORPHA:3322
HP:0000929	Abnormal skull morphology	26277	TINF2	OMIM:613990
HP:0000929	Abnormal skull morphology	1736	DKC1	ORPHA:3322
HP:0000929	Abnormal skull morphology	1736	DKC1	OMIM:305000
HP:0000929	Abnormal skull morphology	92154	MTSS2	OMIM:620086
HP:0000929	Abnormal skull morphology	197322	ACSF3	ORPHA:289504
HP:0000929	Abnormal skull morphology	63925	ZNF335	ORPHA:329228
HP:0000929	Abnormal skull morphology	55690	PACS1	ORPHA:329224
HP:0000929	Abnormal skull morphology	6307	MSMO1	OMIM:616834
HP:0000929	Abnormal skull morphology	1828	DSG1	OMIM:615508
HP:0000929	Abnormal skull morphology	549	AUH	ORPHA:67046
HP:0000929	Abnormal skull morphology	55784	MCTP2	ORPHA:1596
HP:0000929	Abnormal skull morphology	6301	SARS1	OMIM:617709
HP:0000929	Abnormal skull morphology	55997	CFC1	OMIM:605376
HP:0000929	Abnormal skull morphology	26224	FBXL3	OMIM:606220
HP:0000929	Abnormal skull morphology	80185	TTI2	OMIM:615541
HP:0000929	Abnormal skull morphology	80185	TTI2	ORPHA:391307
HP:0000929	Abnormal skull morphology	128989	TANGO2	OMIM:616878
HP:0000929	Abnormal skull morphology	128989	TANGO2	ORPHA:480864
HP:0000929	Abnormal skull morphology	22931	RAB18	OMIM:614222
HP:0000929	Abnormal skull morphology	22931	RAB18	ORPHA:2510
HP:0000929	Abnormal skull morphology	23443	SLC35A3	OMIM:615553
HP:0000929	Abnormal skull morphology	6925	TCF4	ORPHA:2896
HP:0000929	Abnormal skull morphology	6925	TCF4	OMIM:610954
HP:0000929	Abnormal skull morphology	54805	CNNM2	OMIM:616418
HP:0000929	Abnormal skull morphology	1376	CPT2	OMIM:608836
HP:0000929	Abnormal skull morphology	10717	AP4B1	ORPHA:280763
HP:0000929	Abnormal skull morphology	10717	AP4B1	OMIM:614066
HP:0000929	Abnormal skull morphology	11154	AP4S1	ORPHA:280763
HP:0000929	Abnormal skull morphology	11154	AP4S1	OMIM:614067
HP:0000929	Abnormal skull morphology	1663	DDX11	OMIM:613398
HP:0000929	Abnormal skull morphology	2186	BPTF	OMIM:617755
HP:0000929	Abnormal skull morphology	738	VPS51	OMIM:618606
HP:0000929	Abnormal skull morphology	9439	MED23	OMIM:614249
HP:0000929	Abnormal skull morphology	55823	VPS11	ORPHA:466934
HP:0000929	Abnormal skull morphology	55823	VPS11	OMIM:616683
HP:0000929	Abnormal skull morphology	6777	STAT5B	OMIM:618985
HP:0000929	Abnormal skull morphology	23498	HAAO	OMIM:617660
HP:0000929	Abnormal skull morphology	161582	DNAAF4	OMIM:615482
HP:0000929	Abnormal skull morphology	65993	MRPS34	OMIM:617664
HP:0000929	Abnormal skull morphology	387787	LIPT2	OMIM:617668
HP:0000929	Abnormal skull morphology	1841	DTYMK	OMIM:619847
HP:0000929	Abnormal skull morphology	3149	HMGB3	OMIM:300915
HP:0000929	Abnormal skull morphology	51112	TRAPPC12	OMIM:617669
HP:0000929	Abnormal skull morphology	284403	WDR62	OMIM:604317
HP:0000929	Abnormal skull morphology	284403	WDR62	ORPHA:2512
HP:0000929	Abnormal skull morphology	23250	ATP11A	OMIM:619851
HP:0000929	Abnormal skull morphology	1020	CDK5	OMIM:616342
HP:0000929	Abnormal skull morphology	1716	DGUOK	OMIM:251880
HP:0000929	Abnormal skull morphology	788	SLC25A20	ORPHA:159
HP:0000929	Abnormal skull morphology	55773	TBC1D23	OMIM:617695
HP:0000929	Abnormal skull morphology	8558	CDK10	OMIM:617694
HP:0000929	Abnormal skull morphology	51692	CPSF3	OMIM:619876
HP:0000929	Abnormal skull morphology	116115	ZNF526	OMIM:619877
HP:0000929	Abnormal skull morphology	4285	MIPEP	OMIM:617228
HP:0000929	Abnormal skull morphology	5354	PLP1	OMIM:312080
HP:0000929	Abnormal skull morphology	3798	KIF5A	OMIM:617235
HP:0000929	Abnormal skull morphology	57679	ALS2	OMIM:205100
HP:0000929	Abnormal skull morphology	57679	ALS2	ORPHA:300605
HP:0000929	Abnormal skull morphology	8565	YARS1	OMIM:619418
HP:0000929	Abnormal skull morphology	374969	SVBP	OMIM:618569
HP:0000929	Abnormal skull morphology	6135	RPL11	ORPHA:124
HP:0000929	Abnormal skull morphology	6138	RPL15	ORPHA:124
HP:0000929	Abnormal skull morphology	6229	RPS24	ORPHA:124
HP:0000929	Abnormal skull morphology	6204	RPS10	ORPHA:124
HP:0000929	Abnormal skull morphology	6224	RPS20	ORPHA:124
HP:0000929	Abnormal skull morphology	6165	RPL35A	ORPHA:124
HP:0000929	Abnormal skull morphology	6232	RPS27	ORPHA:124
HP:0000929	Abnormal skull morphology	11224	RPL35	ORPHA:124
HP:0000929	Abnormal skull morphology	6160	RPL31	ORPHA:124
HP:0000929	Abnormal skull morphology	6218	RPS17	ORPHA:124
HP:0000929	Abnormal skull morphology	6201	RPS7	ORPHA:124
HP:0000929	Abnormal skull morphology	6155	RPL27	ORPHA:124
HP:0000929	Abnormal skull morphology	6154	RPL26	ORPHA:124
HP:0000929	Abnormal skull morphology	6210	RPS15A	ORPHA:124
HP:0000929	Abnormal skull morphology	90121	TSR2	ORPHA:124
HP:0000929	Abnormal skull morphology	6141	RPL18	ORPHA:124
HP:0000929	Abnormal skull morphology	6235	RPS29	ORPHA:124
HP:0000929	Abnormal skull morphology	6234	RPS28	ORPHA:124
HP:0000929	Abnormal skull morphology	51816	ADA2	ORPHA:124
HP:0000929	Abnormal skull morphology	55656	INTS8	OMIM:618572
HP:0000929	Abnormal skull morphology	165918	RNF168	OMIM:611943
HP:0000929	Abnormal skull morphology	165918	RNF168	ORPHA:420741
HP:0000929	Abnormal skull morphology	84894	LINGO1	OMIM:618103
HP:0000929	Abnormal skull morphology	160418	TMTC3	OMIM:617255
HP:0000929	Abnormal skull morphology	123606	NIPA1	ORPHA:261183
HP:0000929	Abnormal skull morphology	7283	TUBG1	ORPHA:261183
HP:0000929	Abnormal skull morphology	7283	TUBG1	OMIM:615412
HP:0000929	Abnormal skull morphology	81614	NIPA2	ORPHA:261183
HP:0000929	Abnormal skull morphology	8473	OGT	OMIM:300997
HP:0000929	Abnormal skull morphology	1120	CHKB	OMIM:602541
HP:0000929	Abnormal skull morphology	6299	SALL1	OMIM:107480
HP:0000929	Abnormal skull morphology	3778	KCNMA1	OMIM:618596
HP:0000929	Abnormal skull morphology	112939	NACC1	ORPHA:500545
HP:0000929	Abnormal skull morphology	5053	PAH	OMIM:261600
HP:0000929	Abnormal skull morphology	5053	PAH	ORPHA:79254
HP:0000929	Abnormal skull morphology	5053	PAH	ORPHA:2209
HP:0000929	Abnormal skull morphology	27341	RRP7A	OMIM:619453
HP:0000929	Abnormal skull morphology	3376	IARS1	ORPHA:541423
HP:0000929	Abnormal skull morphology	54880	BCOR	ORPHA:568
HP:0000929	Abnormal skull morphology	54880	BCOR	OMIM:300166
HP:0000929	Abnormal skull morphology	54880	BCOR	OMIM:309800
HP:0000929	Abnormal skull morphology	6821	SUOX	OMIM:272300
HP:0000929	Abnormal skull morphology	57096	RPGRIP1	ORPHA:564
HP:0000929	Abnormal skull morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000929	Abnormal skull morphology	84065	TMEM222	OMIM:619470
HP:0000929	Abnormal skull morphology	94005	PIGS	OMIM:618143
HP:0000929	Abnormal skull morphology	55651	NHP2	OMIM:224230
HP:0000929	Abnormal skull morphology	55505	NOP10	OMIM:224230
HP:0000929	Abnormal skull morphology	3643	INSR	ORPHA:508
HP:0000929	Abnormal skull morphology	2131	EXT1	ORPHA:502
HP:0000929	Abnormal skull morphology	6872	TAF1	OMIM:300966
HP:0000929	Abnormal skull morphology	6872	TAF1	ORPHA:480907
HP:0000929	Abnormal skull morphology	60676	PAPPA2	OMIM:619489
HP:0000929	Abnormal skull morphology	1654	DDX3X	OMIM:300958
HP:0000929	Abnormal skull morphology	1654	DDX3X	ORPHA:457260
HP:0000929	Abnormal skull morphology	7284	TUFM	OMIM:610678
HP:0000929	Abnormal skull morphology	407975	MIR17HG	ORPHA:391646
HP:0000929	Abnormal skull morphology	5805	PTS	OMIM:261640
HP:0000929	Abnormal skull morphology	63899	NSUN3	OMIM:619012
HP:0000929	Abnormal skull morphology	2193	FARSA	OMIM:619013
HP:0000929	Abnormal skull morphology	84081	NSRP1	OMIM:620001
HP:0000929	Abnormal skull morphology	54936	ADPRS	OMIM:618170
HP:0000929	Abnormal skull morphology	9562	MINPP1	ORPHA:284339
HP:0000929	Abnormal skull morphology	64432	MRPS25	OMIM:619025
HP:0000929	Abnormal skull morphology	51002	TPRKB	ORPHA:2065
HP:0000929	Abnormal skull morphology	8270	LAGE3	ORPHA:2065
HP:0000929	Abnormal skull morphology	123263	MTFMT	OMIM:614947
HP:0000929	Abnormal skull morphology	4552	MTRR	ORPHA:2169
HP:0000929	Abnormal skull morphology	80055	PGAP1	OMIM:615802
HP:0000929	Abnormal skull morphology	57582	KCNT1	OMIM:614959
HP:0000929	Abnormal skull morphology	1763	DNA2	OMIM:615807
HP:0000929	Abnormal skull morphology	8913	CACNA1G	OMIM:618087
HP:0000929	Abnormal skull morphology	1509	CTSD	OMIM:610127
HP:0000929	Abnormal skull morphology	23325	WASHC4	OMIM:615817
HP:0000929	Abnormal skull morphology	57531	HACE1	ORPHA:464282
HP:0000929	Abnormal skull morphology	57531	HACE1	OMIM:616756
HP:0000929	Abnormal skull morphology	7156	TOP3A	OMIM:618097
HP:0000929	Abnormal skull morphology	5063	PAK3	OMIM:300558
HP:0000929	Abnormal skull morphology	10056	FARSB	OMIM:613658
HP:0000929	Abnormal skull morphology	51067	YARS2	ORPHA:2598
HP:0000929	Abnormal skull morphology	219285	SAMD9L	ORPHA:2585
HP:0000929	Abnormal skull morphology	27238	GPKOW	ORPHA:2570
HP:0000929	Abnormal skull morphology	54101	RIPK4	ORPHA:1234
HP:0000929	Abnormal skull morphology	10982	MAPRE2	OMIM:616734
HP:0000929	Abnormal skull morphology	10982	MAPRE2	ORPHA:2505
HP:0000929	Abnormal skull morphology	3176	HNMT	OMIM:616739
HP:0000929	Abnormal skull morphology	4131	MAP1B	OMIM:618918
HP:0000929	Abnormal skull morphology	3796	KIF2A	OMIM:615411
HP:0000929	Abnormal skull morphology	1911	PHC1	OMIM:615414
HP:0000929	Abnormal skull morphology	1911	PHC1	ORPHA:2512
HP:0000929	Abnormal skull morphology	100506658	OCLN	ORPHA:1229
HP:0000929	Abnormal skull morphology	100506658	OCLN	OMIM:251290
HP:0000929	Abnormal skull morphology	83696	TRAPPC9	ORPHA:352530
HP:0000929	Abnormal skull morphology	23476	BRD4	ORPHA:199
HP:0000929	Abnormal skull morphology	81689	ISCA1	OMIM:617613
HP:0000929	Abnormal skull morphology	64857	PLEKHG2	OMIM:616763
HP:0000929	Abnormal skull morphology	7343	UBTF	ORPHA:500180
HP:0000929	Abnormal skull morphology	55617	TASP1	OMIM:618950
HP:0000929	Abnormal skull morphology	60528	ELAC2	OMIM:615440
HP:0000929	Abnormal skull morphology	28957	MRPS28	OMIM:618958
HP:0000929	Abnormal skull morphology	3832	KIF11	ORPHA:2526
HP:0000929	Abnormal skull morphology	3832	KIF11	OMIM:152950
HP:0000929	Abnormal skull morphology	259266	ASPM	OMIM:608716
HP:0000929	Abnormal skull morphology	259266	ASPM	ORPHA:2512
HP:0000929	Abnormal skull morphology	7991	TUSC3	OMIM:611093
HP:0000929	Abnormal skull morphology	1804	DPP6	ORPHA:2514
HP:0000929	Abnormal skull morphology	1804	DPP6	OMIM:616311
HP:0000929	Abnormal skull morphology	8192	CLPP	OMIM:614129
HP:0000929	Abnormal skull morphology	128637	TBC1D20	ORPHA:2510
HP:0000929	Abnormal skull morphology	11113	CIT	ORPHA:2512
HP:0000929	Abnormal skull morphology	9928	KIF14	ORPHA:2512
HP:0000929	Abnormal skull morphology	9928	KIF14	OMIM:616258
HP:0000929	Abnormal skull morphology	9928	KIF14	OMIM:617914
HP:0000929	Abnormal skull morphology	55262	TRAPPC14	ORPHA:2512
HP:0000929	Abnormal skull morphology	163786	SASS6	ORPHA:2512
HP:0000929	Abnormal skull morphology	4176	MCM7	ORPHA:2512
HP:0000929	Abnormal skull morphology	80254	CEP63	ORPHA:2512
HP:0000929	Abnormal skull morphology	23310	NCAPD3	ORPHA:2512
HP:0000929	Abnormal skull morphology	23310	NCAPD3	OMIM:617984
HP:0000929	Abnormal skull morphology	79648	MCPH1	ORPHA:2512
HP:0000929	Abnormal skull morphology	23141	ANKLE2	ORPHA:2512
HP:0000929	Abnormal skull morphology	57082	KNL1	ORPHA:2512
HP:0000929	Abnormal skull morphology	1021	CDK6	ORPHA:2512
HP:0000929	Abnormal skull morphology	8884	SLC5A6	OMIM:618973
HP:0000929	Abnormal skull morphology	55367	PIDD1	OMIM:619827
HP:0000929	Abnormal skull morphology	10749	KIF1C	ORPHA:397946
HP:0000929	Abnormal skull morphology	51103	NDUFAF1	ORPHA:2609
HP:0000929	Abnormal skull morphology	91942	NDUFAF2	ORPHA:2609
HP:0000929	Abnormal skull morphology	51300	TIMMDC1	ORPHA:2609
HP:0000929	Abnormal skull morphology	4716	NDUFB10	ORPHA:2609
HP:0000929	Abnormal skull morphology	55572	FOXRED1	ORPHA:2609
HP:0000929	Abnormal skull morphology	284184	NDUFAF8	ORPHA:2609
HP:0000929	Abnormal skull morphology	55863	TMEM126B	ORPHA:2609
HP:0000929	Abnormal skull morphology	4535	MT-ND1	ORPHA:2609
HP:0000929	Abnormal skull morphology	4537	MT-ND3	ORPHA:2609
HP:0000929	Abnormal skull morphology	4694	NDUFA1	ORPHA:2609
HP:0000929	Abnormal skull morphology	4720	NDUFS2	ORPHA:2609
HP:0000929	Abnormal skull morphology	4726	NDUFS6	ORPHA:2609
HP:0000929	Abnormal skull morphology	4728	NDUFS8	ORPHA:2609
HP:0000929	Abnormal skull morphology	4722	NDUFS3	ORPHA:2609
HP:0000929	Abnormal skull morphology	79133	NDUFAF5	ORPHA:2609
HP:0000929	Abnormal skull morphology	126328	NDUFA11	ORPHA:2609
HP:0000929	Abnormal skull morphology	4709	NDUFB3	ORPHA:2609
HP:0000929	Abnormal skull morphology	80224	NUBPL	ORPHA:2609
HP:0000929	Abnormal skull morphology	29078	NDUFAF4	ORPHA:2609
HP:0000929	Abnormal skull morphology	374291	NDUFS7	ORPHA:2609
HP:0000929	Abnormal skull morphology	4700	NDUFA6	ORPHA:2609
HP:0000929	Abnormal skull morphology	4536	MT-ND2	ORPHA:2609
HP:0000929	Abnormal skull morphology	4715	NDUFB9	ORPHA:2609
HP:0000929	Abnormal skull morphology	60684	TRAPPC11	OMIM:615356
HP:0000929	Abnormal skull morphology	60684	TRAPPC11	ORPHA:869
HP:0000929	Abnormal skull morphology	60684	TRAPPC11	ORPHA:369840
HP:0000929	Abnormal skull morphology	4056	LTC4S	OMIM:614037
HP:0000929	Abnormal skull morphology	72	ACTG2	ORPHA:2604
HP:0000929	Abnormal skull morphology	472	ATM	OMIM:208900
HP:0000929	Abnormal skull morphology	5610	EIF2AK2	OMIM:618877
HP:0000929	Abnormal skull morphology	3781	KCNN2	OMIM:619725
HP:0000929	Abnormal skull morphology	137492	VPS37A	ORPHA:319199
HP:0000929	Abnormal skull morphology	2590	GALNT2	OMIM:618885
HP:0000929	Abnormal skull morphology	23761	PISD	OMIM:618889
HP:0000929	Abnormal skull morphology	55703	POLR3B	OMIM:619742
HP:0000929	Abnormal skull morphology	5442	POLRMT	OMIM:619743
HP:0000929	Abnormal skull morphology	25930	PTPN23	OMIM:618890
HP:0000929	Abnormal skull morphology	79731	NARS2	OMIM:616239
HP:0000929	Abnormal skull morphology	339983	NAT8L	OMIM:614063
HP:0000929	Abnormal skull morphology	8879	SGPL1	OMIM:617575
HP:0000929	Abnormal skull morphology	8021	NUP214	OMIM:618426
HP:0000929	Abnormal skull morphology	57724	EPG5	OMIM:242840
HP:0000929	Abnormal skull morphology	23162	MAPK8IP3	OMIM:618443
HP:0000929	Abnormal skull morphology	10463	SLC30A9	OMIM:617595
HP:0000929	Abnormal skull morphology	10195	ALG3	ORPHA:79321
HP:0000929	Abnormal skull morphology	10195	ALG3	OMIM:601110
HP:0000929	Abnormal skull morphology	8295	TRRAP	OMIM:618454
HP:0000929	Abnormal skull morphology	81570	CLPB	OMIM:616271
HP:0000929	Abnormal skull morphology	6878	TAF6	OMIM:617126
HP:0000929	Abnormal skull morphology	84706	GPT2	OMIM:616281
HP:0000929	Abnormal skull morphology	84706	GPT2	ORPHA:477673
HP:0000929	Abnormal skull morphology	51728	POLR3K	OMIM:619310
HP:0000929	Abnormal skull morphology	85476	GFM1	OMIM:609060
HP:0000929	Abnormal skull morphology	6650	CAPN15	OMIM:619318
HP:0000929	Abnormal skull morphology	256297	PTF1A	OMIM:609069
HP:0000929	Abnormal skull morphology	221496	LEMD2	OMIM:619322
HP:0000929	Abnormal skull morphology	8882	ZPR1	OMIM:619321
HP:0000929	Abnormal skull morphology	4081	MAB21L1	OMIM:618479
HP:0000929	Abnormal skull morphology	8869	ST3GAL5	OMIM:609056
HP:0000929	Abnormal skull morphology	79641	ROGDI	OMIM:226750
HP:0000929	Abnormal skull morphology	7965	AIMP2	OMIM:618006
HP:0000929	Abnormal skull morphology	1781	DYNC1I2	OMIM:618492
HP:0000929	Abnormal skull morphology	191	AHCY	ORPHA:88618
HP:0000929	Abnormal skull morphology	26276	VPS33B	OMIM:208085
HP:0000929	Abnormal skull morphology	54681	P4HTM	OMIM:618493
HP:0000929	Abnormal skull morphology	5281	PIGF	OMIM:619356
HP:0000929	Abnormal skull morphology	29926	GMPPA	ORPHA:869
HP:0000929	Abnormal skull morphology	10681	GNB5	OMIM:617182
HP:0000929	Abnormal skull morphology	79143	MBOAT7	OMIM:617188
HP:0000929	Abnormal skull morphology	5080	PAX6	ORPHA:893
HP:0000929	Abnormal skull morphology	627	BDNF	ORPHA:893
HP:0000929	Abnormal skull morphology	23554	TSPAN12	ORPHA:891
HP:0000929	Abnormal skull morphology	79797	ZNF408	ORPHA:891
HP:0000929	Abnormal skull morphology	8322	FZD4	ORPHA:891
HP:0000929	Abnormal skull morphology	4702	NDUFA8	OMIM:619272
HP:0000929	Abnormal skull morphology	27183	VPS4A	OMIM:619273
HP:0000929	Abnormal skull morphology	81555	YIPF5	OMIM:619278
HP:0000929	Abnormal skull morphology	55532	SLC30A10	ORPHA:309854
HP:0000929	Abnormal skull morphology	3899	AFF3	OMIM:619297
HP:0000929	Abnormal skull morphology	36	ACADSB	OMIM:610006
HP:0000929	Abnormal skull morphology	8546	AP3B1	OMIM:608233
HP:0000929	Abnormal skull morphology	51199	NIN	OMIM:614851
HP:0000929	Abnormal skull morphology	51199	NIN	ORPHA:319675
HP:0000929	Abnormal skull morphology	197257	LDHD	OMIM:245450
HP:0000929	Abnormal skull morphology	9255	AIMP1	OMIM:260600
HP:0000929	Abnormal skull morphology	27286	SRPX2	ORPHA:98889
HP:0000929	Abnormal skull morphology	375748	ERCC6L2	OMIM:615715
HP:0000929	Abnormal skull morphology	2521	FUS	ORPHA:300605
HP:0000929	Abnormal skull morphology	80208	SPG11	ORPHA:300605
HP:0000929	Abnormal skull morphology	10280	SIGMAR1	ORPHA:300605
HP:0000929	Abnormal skull morphology	10558	SPTLC1	ORPHA:300605
HP:0000929	Abnormal skull morphology	162417	NAGS	ORPHA:927
HP:0000929	Abnormal skull morphology	50628	GEMIN4	OMIM:617913
HP:0000929	Abnormal skull morphology	7507	XPA	ORPHA:910
HP:0000929	Abnormal skull morphology	7507	XPA	OMIM:278700
HP:0000929	Abnormal skull morphology	7508	XPC	ORPHA:910
HP:0000929	Abnormal skull morphology	1643	DDB2	ORPHA:910
HP:0000929	Abnormal skull morphology	4173	MCM4	OMIM:609981
HP:0000929	Abnormal skull morphology	55187	VPS13D	OMIM:607317
HP:0000929	Abnormal skull morphology	79631	EFL1	OMIM:617941
HP:0000929	Abnormal skull morphology	5429	POLH	OMIM:278750
HP:0000929	Abnormal skull morphology	101929726	MYMX	ORPHA:1358
HP:0000929	Abnormal skull morphology	2058	EPRS1	OMIM:617951
HP:0000929	Abnormal skull morphology	1063	CENPF	OMIM:243605
HP:0000929	Abnormal skull morphology	20	ABCA2	OMIM:618808
HP:0000929	Abnormal skull morphology	1729	DIAPH1	OMIM:616632
HP:0000929	Abnormal skull morphology	6785	ELOVL4	OMIM:614457
HP:0000929	Abnormal skull morphology	27010	TPK1	OMIM:614458
HP:0000929	Abnormal skull morphology	2584	GALK1	ORPHA:79237
HP:0000929	Abnormal skull morphology	11019	LIAS	OMIM:614462
HP:0000929	Abnormal skull morphology	3704	ITPA	OMIM:616647
HP:0000929	Abnormal skull morphology	56270	WDR45B	OMIM:617977
HP:0000929	Abnormal skull morphology	54870	QRICH1	OMIM:617982
HP:0000929	Abnormal skull morphology	23397	NCAPH	OMIM:617985
HP:0000929	Abnormal skull morphology	54676	GTPBP2	OMIM:617988
HP:0000929	Abnormal skull morphology	25974	MMACHC	ORPHA:79282
HP:0000929	Abnormal skull morphology	25974	MMACHC	OMIM:277400
HP:0000929	Abnormal skull morphology	23133	PHF8	OMIM:300263
HP:0000929	Abnormal skull morphology	51733	UPB1	OMIM:613161
HP:0000929	Abnormal skull morphology	23001	WDFY3	OMIM:617520
HP:0000929	Abnormal skull morphology	79587	CARS2	OMIM:616672
HP:0000929	Abnormal skull morphology	35	ACADS	ORPHA:26792
HP:0000929	Abnormal skull morphology	5052	PRDX1	OMIM:277400
HP:0000929	Abnormal skull morphology	6792	CDKL5	OMIM:300672
HP:0000929	Abnormal skull morphology	1267	CNP	OMIM:619071
HP:0000929	Abnormal skull morphology	10617	STAMBP	OMIM:614261
HP:0000929	Abnormal skull morphology	91452	ACBD5	OMIM:618863
HP:0000929	Abnormal skull morphology	84879	MFSD2A	OMIM:616486
HP:0000929	Abnormal skull morphology	51660	MPC1	OMIM:614741
HP:0000929	Abnormal skull morphology	10564	ARFGEF2	OMIM:608097
HP:0000929	Abnormal skull morphology	2290	FOXG1	OMIM:613454
HP:0000929	Abnormal skull morphology	4719	NDUFS1	OMIM:618226
HP:0000929	Abnormal skull morphology	55627	SMPD4	OMIM:618622
HP:0000929	Abnormal skull morphology	11340	EXOSC8	ORPHA:2254
HP:0000929	Abnormal skull morphology	5393	EXOSC9	ORPHA:2254
HP:0000929	Abnormal skull morphology	23287	AGTPBP1	ORPHA:2254
HP:0000929	Abnormal skull morphology	51010	EXOSC3	ORPHA:2254
HP:0000929	Abnormal skull morphology	51010	EXOSC3	OMIM:614678
HP:0000929	Abnormal skull morphology	7443	VRK1	ORPHA:2254
HP:0000929	Abnormal skull morphology	91137	SLC25A46	ORPHA:2254
HP:0000929	Abnormal skull morphology	51091	SEPSECS	OMIM:613811
HP:0000929	Abnormal skull morphology	51091	SEPSECS	ORPHA:2524
HP:0000929	Abnormal skull morphology	22845	DOLK	ORPHA:91131
HP:0000929	Abnormal skull morphology	132158	GLYCTK	ORPHA:941
HP:0000929	Abnormal skull morphology	122553	TRAPPC6B	OMIM:617862
HP:0000929	Abnormal skull morphology	5859	QARS1	OMIM:615760
HP:0000929	Abnormal skull morphology	116461	TSEN15	OMIM:617026
HP:0000929	Abnormal skull morphology	116461	TSEN15	ORPHA:2524
HP:0000929	Abnormal skull morphology	51741	WWOX	OMIM:616211
HP:0000929	Abnormal skull morphology	283989	TSEN54	ORPHA:2524
HP:0000929	Abnormal skull morphology	283989	TSEN54	OMIM:277470
HP:0000929	Abnormal skull morphology	79042	TSEN34	ORPHA:2524
HP:0000929	Abnormal skull morphology	80746	TSEN2	ORPHA:2524
HP:0000929	Abnormal skull morphology	80746	TSEN2	OMIM:612389
HP:0000929	Abnormal skull morphology	4190	MDH1	OMIM:618959
HP:0000929	Abnormal skull morphology	998	CDC42	OMIM:616737
HP:0000929	Abnormal skull morphology	6334	SCN8A	OMIM:614558
HP:0000929	Abnormal skull morphology	50	ACO2	OMIM:614559
HP:0000929	Abnormal skull morphology	57038	RARS2	OMIM:611523
HP:0000929	Abnormal skull morphology	6509	SLC1A4	OMIM:616657
HP:0000929	Abnormal skull morphology	10978	CLP1	OMIM:615803
HP:0000929	Abnormal skull morphology	54862	CC2D1A	OMIM:608443
HP:0000929	Abnormal skull morphology	9382	COG1	OMIM:611209
HP:0000929	Abnormal skull morphology	9382	COG1	ORPHA:263508
HP:0000929	Abnormal skull morphology	2891	GRIA2	OMIM:618917
HP:0000929	Abnormal skull morphology	63908	NAPB	OMIM:620033
HP:0000929	Abnormal skull morphology	51651	PTRH2	OMIM:616263
HP:0000929	Abnormal skull morphology	440	ASNS	OMIM:615574
HP:0000929	Abnormal skull morphology	5538	PPT1	OMIM:256730
HP:0000929	Abnormal skull morphology	6709	SPTAN1	OMIM:613477
HP:0000929	Abnormal skull morphology	55275	VPS53	OMIM:615851
HP:0000929	Abnormal skull morphology	203190	LGI3	OMIM:620007
HP:0000929	Abnormal skull morphology	2806	GOT2	OMIM:618721
HP:0000929	Abnormal skull morphology	51294	PCDH12	OMIM:251280
HP:0000929	Abnormal skull morphology	114034	TOE1	OMIM:614969
HP:0000929	Abnormal skull morphology	3913	LAMB2	OMIM:609049
HP:0000929	Abnormal skull morphology	83480	PUS3	ORPHA:488627
HP:0000929	Abnormal skull morphology	79087	ALG12	ORPHA:79324
HP:0000929	Abnormal skull morphology	79087	ALG12	OMIM:607143
HP:0000929	Abnormal skull morphology	2801	GOLGA2	OMIM:620240
HP:0000929	Abnormal skull morphology	55163	PNPO	OMIM:610090
HP:0000929	Abnormal skull morphology	10844	TUBGCP2	OMIM:618737
HP:0000929	Abnormal skull morphology	221927	BRAT1	OMIM:614498
HP:0000929	Abnormal skull morphology	84342	COG8	ORPHA:95428
HP:0000929	Abnormal skull morphology	11284	PNKP	OMIM:613402
HP:0000929	Abnormal skull morphology	9373	PLAA	OMIM:617527
HP:0000929	Abnormal skull morphology	27445	PCLO	OMIM:608027
HP:0000929	Abnormal skull morphology	8036	SHOC2	OMIM:607721
HP:0000929	Abnormal skull morphology	3008	H1-4	OMIM:617537
HP:0000929	Abnormal skull morphology	91801	ALKBH8	OMIM:618504
HP:0000929	Abnormal skull morphology	3703	STT3A	OMIM:619714
HP:0000929	Abnormal skull morphology	5457	POU4F1	ORPHA:314647
HP:0000929	Abnormal skull morphology	23261	CAMTA1	ORPHA:314647
HP:0000929	Abnormal skull morphology	23261	CAMTA1	OMIM:614756
HP:0000929	Abnormal skull morphology	51111	KMT5B	OMIM:617788
HP:0000929	Abnormal skull morphology	10730	YME1L1	OMIM:617302
HP:0000929	Abnormal skull morphology	55904	KMT2E	OMIM:618512
HP:0000929	Abnormal skull morphology	3764	KCNJ8	ORPHA:1517
HP:0000929	Abnormal skull morphology	10060	ABCC9	ORPHA:1517
HP:0000929	Abnormal skull morphology	10060	ABCC9	OMIM:239850
HP:0000929	Abnormal skull morphology	818	CAMK2G	OMIM:618522
HP:0000929	Abnormal skull morphology	284058	KANSL1	ORPHA:363958
HP:0000929	Abnormal skull morphology	284058	KANSL1	ORPHA:363965
HP:0000929	Abnormal skull morphology	55870	ASH1L	OMIM:617796
HP:0000929	Abnormal skull morphology	54453	RIN2	OMIM:613075
HP:0000929	Abnormal skull morphology	815	CAMK2A	OMIM:617798
HP:0000929	Abnormal skull morphology	10381	TUBB3	ORPHA:300570
HP:0000929	Abnormal skull morphology	10381	TUBB3	ORPHA:467166
HP:0000929	Abnormal skull morphology	1183	CLCN4	ORPHA:485350
HP:0000929	Abnormal skull morphology	84100	ARL6	OMIM:209900
HP:0000929	Abnormal skull morphology	79140	CCDC28B	OMIM:209900
HP:0000929	Abnormal skull morphology	582	BBS1	OMIM:209900
HP:0000929	Abnormal skull morphology	55109	AGGF1	ORPHA:90308
HP:0000929	Abnormal skull morphology	93627	TBCK	ORPHA:488632
HP:0000929	Abnormal skull morphology	93627	TBCK	OMIM:616900
HP:0000929	Abnormal skull morphology	28514	DLL1	ORPHA:93926
HP:0000929	Abnormal skull morphology	28514	DLL1	ORPHA:93924
HP:0000929	Abnormal skull morphology	28514	DLL1	ORPHA:93925
HP:0000929	Abnormal skull morphology	28514	DLL1	OMIM:618709
HP:0000929	Abnormal skull morphology	28514	DLL1	ORPHA:220386
HP:0000929	Abnormal skull morphology	2253	FGF8	ORPHA:93926
HP:0000929	Abnormal skull morphology	2253	FGF8	ORPHA:93924
HP:0000929	Abnormal skull morphology	2253	FGF8	ORPHA:93925
HP:0000929	Abnormal skull morphology	2253	FGF8	ORPHA:220386
HP:0000929	Abnormal skull morphology	7050	TGIF1	ORPHA:93926
HP:0000929	Abnormal skull morphology	7050	TGIF1	ORPHA:93924
HP:0000929	Abnormal skull morphology	7050	TGIF1	ORPHA:93925
HP:0000929	Abnormal skull morphology	7050	TGIF1	ORPHA:220386
HP:0000929	Abnormal skull morphology	4838	NODAL	ORPHA:93926
HP:0000929	Abnormal skull morphology	4838	NODAL	ORPHA:93924
HP:0000929	Abnormal skull morphology	4838	NODAL	ORPHA:93925
HP:0000929	Abnormal skull morphology	4838	NODAL	ORPHA:220386
HP:0000929	Abnormal skull morphology	6469	SHH	ORPHA:93926
HP:0000929	Abnormal skull morphology	6469	SHH	ORPHA:93924
HP:0000929	Abnormal skull morphology	6469	SHH	ORPHA:93925
HP:0000929	Abnormal skull morphology	6469	SHH	ORPHA:220386
HP:0000929	Abnormal skull morphology	7546	ZIC2	ORPHA:93926
HP:0000929	Abnormal skull morphology	7546	ZIC2	ORPHA:93924
HP:0000929	Abnormal skull morphology	7546	ZIC2	ORPHA:93925
HP:0000929	Abnormal skull morphology	7546	ZIC2	ORPHA:220386
HP:0000929	Abnormal skull morphology	6491	STIL	ORPHA:93926
HP:0000929	Abnormal skull morphology	6491	STIL	ORPHA:93924
HP:0000929	Abnormal skull morphology	6491	STIL	ORPHA:93925
HP:0000929	Abnormal skull morphology	6491	STIL	ORPHA:220386
HP:0000929	Abnormal skull morphology	2619	GAS1	ORPHA:93926
HP:0000929	Abnormal skull morphology	2619	GAS1	ORPHA:93924
HP:0000929	Abnormal skull morphology	2619	GAS1	ORPHA:93925
HP:0000929	Abnormal skull morphology	2619	GAS1	ORPHA:220386
HP:0000929	Abnormal skull morphology	84976	DISP1	ORPHA:93926
HP:0000929	Abnormal skull morphology	84976	DISP1	ORPHA:93924
HP:0000929	Abnormal skull morphology	84976	DISP1	ORPHA:93925
HP:0000929	Abnormal skull morphology	84976	DISP1	ORPHA:220386
HP:0000929	Abnormal skull morphology	8928	FOXH1	ORPHA:93926
HP:0000929	Abnormal skull morphology	8928	FOXH1	ORPHA:93924
HP:0000929	Abnormal skull morphology	8928	FOXH1	ORPHA:93925
HP:0000929	Abnormal skull morphology	8928	FOXH1	ORPHA:220386
HP:0000929	Abnormal skull morphology	50937	CDON	ORPHA:93926
HP:0000929	Abnormal skull morphology	50937	CDON	ORPHA:93924
HP:0000929	Abnormal skull morphology	50937	CDON	ORPHA:93925
HP:0000929	Abnormal skull morphology	50937	CDON	ORPHA:220386
HP:0000929	Abnormal skull morphology	26057	ANKRD17	OMIM:619504
HP:0000929	Abnormal skull morphology	11285	B4GALT7	OMIM:130070
HP:0000929	Abnormal skull morphology	11285	B4GALT7	ORPHA:75496
HP:0000929	Abnormal skull morphology	57680	CHD8	OMIM:615032
HP:0000929	Abnormal skull morphology	100128927	ZBTB42	OMIM:616248
HP:0000929	Abnormal skull morphology	285362	SUMF1	ORPHA:585
HP:0000929	Abnormal skull morphology	9158	FIBP	OMIM:617107
HP:0000929	Abnormal skull morphology	9158	FIBP	ORPHA:500095
HP:0000929	Abnormal skull morphology	200424	TET3	OMIM:618798
HP:0000929	Abnormal skull morphology	9772	TMEM94	OMIM:618316
HP:0000929	Abnormal skull morphology	51341	ZBTB7A	OMIM:619769
HP:0000929	Abnormal skull morphology	4626	MYH8	OMIM:158300
HP:0000929	Abnormal skull morphology	7030	TFE3	OMIM:301066
HP:0000929	Abnormal skull morphology	2239	GPC4	ORPHA:373
HP:0000929	Abnormal skull morphology	2239	GPC4	OMIM:312870
HP:0000929	Abnormal skull morphology	2239	GPC4	OMIM:301026
HP:0000929	Abnormal skull morphology	2239	GPC4	ORPHA:2662
HP:0000929	Abnormal skull morphology	2719	GPC3	ORPHA:373
HP:0000929	Abnormal skull morphology	2719	GPC3	OMIM:312870
HP:0000929	Abnormal skull morphology	4123	MAN2C1	OMIM:619775
HP:0000929	Abnormal skull morphology	54941	RNF125	OMIM:616260
HP:0000929	Abnormal skull morphology	80173	IFT74	OMIM:617119
HP:0000929	Abnormal skull morphology	1967	EIF2B1	OMIM:603896
HP:0000929	Abnormal skull morphology	25970	SH2B1	ORPHA:261197
HP:0000929	Abnormal skull morphology	6654	SOS1	OMIM:610733
HP:0000929	Abnormal skull morphology	79944	L2HGDH	ORPHA:79314
HP:0000929	Abnormal skull morphology	3912	LAMB1	OMIM:615191
HP:0000929	Abnormal skull morphology	4723	NDUFV1	OMIM:618225
HP:0000929	Abnormal skull morphology	92335	STRADA	ORPHA:500533
HP:0000929	Abnormal skull morphology	92335	STRADA	OMIM:611087
HP:0000929	Abnormal skull morphology	650	BMP2	ORPHA:261295
HP:0000929	Abnormal skull morphology	1193	CLIC2	OMIM:300886
HP:0000929	Abnormal skull morphology	79868	ALG13	OMIM:300884
HP:0000929	Abnormal skull morphology	23729	SHPK	ORPHA:440713
HP:0000929	Abnormal skull morphology	51114	ZDHHC9	ORPHA:776
HP:0000929	Abnormal skull morphology	65109	UPF3B	ORPHA:776
HP:0000929	Abnormal skull morphology	65109	UPF3B	OMIM:300676
HP:0000929	Abnormal skull morphology	84892	POMGNT2	ORPHA:899
HP:0000929	Abnormal skull morphology	148789	B3GALNT2	ORPHA:899
HP:0000929	Abnormal skull morphology	79147	FKRP	ORPHA:899
HP:0000929	Abnormal skull morphology	29954	POMT2	ORPHA:899
HP:0000929	Abnormal skull morphology	9215	LARGE1	ORPHA:899
HP:0000929	Abnormal skull morphology	1282	COL4A1	ORPHA:899
HP:0000929	Abnormal skull morphology	10329	RXYLT1	ORPHA:899
HP:0000929	Abnormal skull morphology	1605	DAG1	ORPHA:899
HP:0000929	Abnormal skull morphology	1605	DAG1	OMIM:616538
HP:0000929	Abnormal skull morphology	11041	B4GAT1	ORPHA:899
HP:0000929	Abnormal skull morphology	10585	POMT1	ORPHA:899
HP:0000929	Abnormal skull morphology	84197	POMK	ORPHA:899
HP:0000929	Abnormal skull morphology	2218	FKTN	ORPHA:899
HP:0000929	Abnormal skull morphology	55624	POMGNT1	ORPHA:899
HP:0000929	Abnormal skull morphology	347733	TUBB2B	ORPHA:467166
HP:0000929	Abnormal skull morphology	7846	TUBA1A	ORPHA:467166
HP:0000929	Abnormal skull morphology	57551	TAOK1	OMIM:619575
HP:0000929	Abnormal skull morphology	3549	IHH	ORPHA:63446
HP:0000929	Abnormal skull morphology	3756	KCNH1	OMIM:135500
HP:0000929	Abnormal skull morphology	1108	CHD4	OMIM:617159
HP:0000929	Abnormal skull morphology	84188	FAR1	OMIM:619338
HP:0000929	Abnormal skull morphology	3897	L1CAM	OMIM:307000
HP:0000929	Abnormal skull morphology	3897	L1CAM	OMIM:303350
HP:0000929	Abnormal skull morphology	10483	SEC23B	ORPHA:201
HP:0000929	Abnormal skull morphology	10483	SEC23B	OMIM:616858
HP:0000929	Abnormal skull morphology	6390	SDHB	ORPHA:201
HP:0000929	Abnormal skull morphology	6392	SDHD	ORPHA:201
HP:0000929	Abnormal skull morphology	6391	SDHC	ORPHA:201
HP:0000929	Abnormal skull morphology	207	AKT1	ORPHA:201
HP:0000929	Abnormal skull morphology	207	AKT1	ORPHA:744
HP:0000929	Abnormal skull morphology	207	AKT1	OMIM:176920
HP:0000929	Abnormal skull morphology	205717	USF3	ORPHA:201
HP:0000929	Abnormal skull morphology	100144748	KLLN	ORPHA:201
HP:0000929	Abnormal skull morphology	100144748	KLLN	OMIM:615107
HP:0000929	Abnormal skull morphology	7319	UBE2A	OMIM:300860
HP:0000929	Abnormal skull morphology	7319	UBE2A	ORPHA:163956
HP:0000929	Abnormal skull morphology	1760	DMPK	ORPHA:589821
HP:0000929	Abnormal skull morphology	2009	EML1	OMIM:600348
HP:0000929	Abnormal skull morphology	10297	APC2	OMIM:617169
HP:0000929	Abnormal skull morphology	10297	APC2	ORPHA:821
HP:0000929	Abnormal skull morphology	5277	PIGA	OMIM:300868
HP:0000929	Abnormal skull morphology	2683	B4GALT1	OMIM:607091
HP:0000929	Abnormal skull morphology	220296	HEPACAM	OMIM:613925
HP:0000929	Abnormal skull morphology	220296	HEPACAM	OMIM:613926
HP:0000929	Abnormal skull morphology	220296	HEPACAM	OMIM:604004
HP:0000929	Abnormal skull morphology	2892	GRIA3	ORPHA:364028
HP:0000929	Abnormal skull morphology	2892	GRIA3	OMIM:300699
HP:0000929	Abnormal skull morphology	6711	SPTBN1	OMIM:619475
HP:0000929	Abnormal skull morphology	6608	SMO	OMIM:241800
HP:0000929	Abnormal skull morphology	6513	SLC2A1	ORPHA:168577
HP:0000929	Abnormal skull morphology	10653	SPINT2	OMIM:270420
HP:0000929	Abnormal skull morphology	2571	GAD1	OMIM:619124
HP:0000929	Abnormal skull morphology	23112	TNRC6B	OMIM:619243
HP:0000929	Abnormal skull morphology	288	ANK3	ORPHA:356996
HP:0000929	Abnormal skull morphology	6853	SYN1	ORPHA:85294
HP:0000929	Abnormal skull morphology	6853	SYN1	OMIM:300491
HP:0000929	Abnormal skull morphology	23169	SLC35D1	OMIM:269250
HP:0000929	Abnormal skull morphology	23169	SLC35D1	ORPHA:3144
HP:0000929	Abnormal skull morphology	777	CACNA1E	OMIM:618285
HP:0000929	Abnormal skull morphology	8242	KDM5C	ORPHA:85279
HP:0000929	Abnormal skull morphology	8242	KDM5C	OMIM:300534
HP:0000929	Abnormal skull morphology	4781	NFIB	OMIM:618286
HP:0000929	Abnormal skull morphology	23299	BICD2	OMIM:618291
HP:0000929	Abnormal skull morphology	1496	CTNNA2	OMIM:618174
HP:0000929	Abnormal skull morphology	161742	SPRED1	ORPHA:137605
HP:0000929	Abnormal skull morphology	161742	SPRED1	OMIM:611431
HP:0000929	Abnormal skull morphology	25886	POC1A	OMIM:614813
HP:0000929	Abnormal skull morphology	55294	FBXW7	OMIM:620012
HP:0000929	Abnormal skull morphology	7337	UBE3A	ORPHA:238446
HP:0000929	Abnormal skull morphology	894	CCND2	ORPHA:83473
HP:0000929	Abnormal skull morphology	894	CCND2	OMIM:615938
HP:0000929	Abnormal skull morphology	10000	AKT3	ORPHA:83473
HP:0000929	Abnormal skull morphology	10000	AKT3	ORPHA:99802
HP:0000929	Abnormal skull morphology	10000	AKT3	OMIM:615937
HP:0000929	Abnormal skull morphology	84282	RNF135	ORPHA:137634
HP:0000929	Abnormal skull morphology	5894	RAF1	OMIM:611553
HP:0000929	Abnormal skull morphology	118429	ANTXR2	ORPHA:2176
HP:0000929	Abnormal skull morphology	8854	ALDH1A2	OMIM:620025
HP:0000929	Abnormal skull morphology	55780	ERMARD	ORPHA:75857
HP:0000929	Abnormal skull morphology	9739	SETD1A	OMIM:619056
HP:0000929	Abnormal skull morphology	80204	FBXO11	OMIM:618089
HP:0000929	Abnormal skull morphology	3070	HELLS	ORPHA:2268
HP:0000929	Abnormal skull morphology	1789	DNMT3B	ORPHA:2268
HP:0000929	Abnormal skull morphology	83879	CDCA7	ORPHA:2268
HP:0000929	Abnormal skull morphology	1802	DPH2	OMIM:620062
HP:0000929	Abnormal skull morphology	54499	TMCO1	OMIM:213980
HP:0000929	Abnormal skull morphology	54499	TMCO1	ORPHA:1394
HP:0000929	Abnormal skull morphology	22859	ADGRL1	OMIM:620065
HP:0000929	Abnormal skull morphology	6609	SMPD1	OMIM:257200
HP:0000929	Abnormal skull morphology	6558	SLC12A2	OMIM:619081
HP:0000929	Abnormal skull morphology	9568	GABBR2	OMIM:617903
HP:0000929	Abnormal skull morphology	9555	MACROH2A1	ORPHA:1275
HP:0000929	Abnormal skull morphology	5307	PITX1	ORPHA:1275
HP:0000929	Abnormal skull morphology	5340	PLG	OMIM:217090
HP:0000929	Abnormal skull morphology	6598	SMARCB1	ORPHA:99966
HP:0000929	Abnormal skull morphology	34	ACADM	ORPHA:42
HP:0000929	Abnormal skull morphology	26047	CNTNAP2	OMIM:610042
HP:0000929	Abnormal skull morphology	2776	GNAQ	ORPHA:3205
HP:0000929	Abnormal skull morphology	2776	GNAQ	OMIM:185300
HP:0000929	Abnormal skull morphology	5781	PTPN11	OMIM:151100
HP:0000929	Abnormal skull morphology	23590	PDSS1	OMIM:614651
HP:0000929	Abnormal skull morphology	10075	HUWE1	OMIM:309590
HP:0000929	Abnormal skull morphology	579	NKX3-2	OMIM:613330
HP:0000929	Abnormal skull morphology	84627	ZNF469	OMIM:229200
HP:0000929	Abnormal skull morphology	10586	MAB21L2	OMIM:615877
HP:0000929	Abnormal skull morphology	85358	SHANK3	OMIM:606232
HP:0000929	Abnormal skull morphology	85358	SHANK3	ORPHA:48652
HP:0000929	Abnormal skull morphology	411	ARSB	OMIM:253200
HP:0000929	Abnormal skull morphology	2334	AFF2	ORPHA:100973
HP:0000929	Abnormal skull morphology	3074	HEXB	OMIM:268800
HP:0000929	Abnormal skull morphology	84162	BLTP1	OMIM:617822
HP:0000929	Abnormal skull morphology	2782	GNB1	OMIM:616973
HP:0000929	Abnormal skull morphology	5339	PLEC	OMIM:612138
HP:0000929	Abnormal skull morphology	64221	ROBO3	OMIM:607313
HP:0000929	Abnormal skull morphology	134701	RIPPLY2	ORPHA:2311
HP:0000929	Abnormal skull morphology	10683	DLL3	ORPHA:2311
HP:0000929	Abnormal skull morphology	3955	LFNG	ORPHA:2311
HP:0000929	Abnormal skull morphology	84667	HES7	ORPHA:2311
HP:0000929	Abnormal skull morphology	145873	MESP2	ORPHA:2311
HP:0000929	Abnormal skull morphology	6907	TBL1X	OMIM:301033
HP:0000929	Abnormal skull morphology	57572	DOCK6	OMIM:614219
HP:0000929	Abnormal skull morphology	3747	KCNC2	OMIM:619913
HP:0000929	Abnormal skull morphology	4659	PPP1R12A	OMIM:618820
HP:0000929	Abnormal skull morphology	91461	PKDCC	OMIM:618821
HP:0000929	Abnormal skull morphology	23209	MLC1	OMIM:604004
HP:0000929	Abnormal skull morphology	6911	TBX6	ORPHA:1797
HP:0000929	Abnormal skull morphology	5879	RAC1	OMIM:617751
HP:0000929	Abnormal skull morphology	5879	RAC1	ORPHA:500159
HP:0000929	Abnormal skull morphology	8139	GAN	OMIM:256850
HP:0000929	Abnormal skull morphology	2639	GCDH	OMIM:231670
HP:0000929	Abnormal skull morphology	37	ACADVL	ORPHA:26793
HP:0000929	Abnormal skull morphology	4204	MECP2	OMIM:300260
HP:0000929	Abnormal skull morphology	9526	MPDU1	OMIM:609180
HP:0000929	Abnormal skull morphology	9526	MPDU1	ORPHA:79323
HP:0000929	Abnormal skull morphology	5189	PEX1	OMIM:214100
HP:0000929	Abnormal skull morphology	5189	PEX1	ORPHA:44
HP:0000929	Abnormal skull morphology	5189	PEX1	ORPHA:912
HP:0000929	Abnormal skull morphology	170302	ARX	OMIM:300215
HP:0000929	Abnormal skull morphology	25915	NDUFAF3	OMIM:618240
HP:0000929	Abnormal skull morphology	1147	CHUK	OMIM:619339
HP:0000929	Abnormal skull morphology	7490	WT1	OMIM:194080
HP:0000929	Abnormal skull morphology	4036	LRP2	ORPHA:2143
HP:0000929	Abnormal skull morphology	4036	LRP2	OMIM:222448
HP:0000929	Abnormal skull morphology	5193	PEX12	OMIM:614859
HP:0000929	Abnormal skull morphology	5193	PEX12	ORPHA:44
HP:0000929	Abnormal skull morphology	5193	PEX12	ORPHA:912
HP:0000929	Abnormal skull morphology	54888	NSUN2	ORPHA:235
HP:0000929	Abnormal skull morphology	56006	SMG9	OMIM:616920
HP:0000929	Abnormal skull morphology	5828	PEX2	OMIM:614866
HP:0000929	Abnormal skull morphology	5828	PEX2	ORPHA:44
HP:0000929	Abnormal skull morphology	5828	PEX2	ORPHA:912
HP:0000929	Abnormal skull morphology	9091	PIGQ	OMIM:618548
HP:0000929	Abnormal skull morphology	285590	SH3PXD2B	OMIM:249420
HP:0000929	Abnormal skull morphology	55670	PEX26	OMIM:614872
HP:0000929	Abnormal skull morphology	55670	PEX26	ORPHA:44
HP:0000929	Abnormal skull morphology	55670	PEX26	ORPHA:912
HP:0000929	Abnormal skull morphology	8504	PEX3	ORPHA:44
HP:0000929	Abnormal skull morphology	8504	PEX3	ORPHA:912
HP:0000929	Abnormal skull morphology	9409	PEX16	ORPHA:44
HP:0000929	Abnormal skull morphology	9409	PEX16	ORPHA:912
HP:0000929	Abnormal skull morphology	5190	PEX6	ORPHA:44
HP:0000929	Abnormal skull morphology	5190	PEX6	ORPHA:912
HP:0000929	Abnormal skull morphology	8799	PEX11B	ORPHA:44
HP:0000929	Abnormal skull morphology	8799	PEX11B	ORPHA:912
HP:0000929	Abnormal skull morphology	5194	PEX13	ORPHA:44
HP:0000929	Abnormal skull morphology	5194	PEX13	OMIM:614883
HP:0000929	Abnormal skull morphology	5194	PEX13	ORPHA:912
HP:0000929	Abnormal skull morphology	5192	PEX10	ORPHA:44
HP:0000929	Abnormal skull morphology	5192	PEX10	ORPHA:912
HP:0000929	Abnormal skull morphology	57020	VPS35L	OMIM:619135
HP:0000929	Abnormal skull morphology	4052	LTBP1	ORPHA:90349
HP:0000929	Abnormal skull morphology	10516	FBLN5	ORPHA:90349
HP:0000929	Abnormal skull morphology	56160	NSMCE3	OMIM:617241
HP:0000929	Abnormal skull morphology	7252	TSHB	OMIM:275100
HP:0000929	Abnormal skull morphology	6888	TALDO1	OMIM:606003
HP:0000929	Abnormal skull morphology	2108	ETFA	OMIM:231680
HP:0000929	Abnormal skull morphology	2109	ETFB	OMIM:231680
HP:0000929	Abnormal skull morphology	2110	ETFDH	OMIM:231680
HP:0000929	Abnormal skull morphology	865	CBFB	OMIM:620099
HP:0000929	Abnormal skull morphology	55612	FERMT1	ORPHA:2908
HP:0000929	Abnormal skull morphology	2879	GPX4	ORPHA:93317
HP:0000929	Abnormal skull morphology	2879	GPX4	OMIM:250220
HP:0000929	Abnormal skull morphology	80036	TRPM3	OMIM:620224
HP:0000929	Abnormal skull morphology	1312	COMT	ORPHA:567
HP:0000929	Abnormal skull morphology	221037	JMJD1C	ORPHA:567
HP:0000929	Abnormal skull morphology	2812	GP1BB	ORPHA:567
HP:0000929	Abnormal skull morphology	6239	RREB1	ORPHA:567
HP:0000929	Abnormal skull morphology	7290	HIRA	ORPHA:567
HP:0000929	Abnormal skull morphology	9632	SEC24C	ORPHA:567
HP:0000929	Abnormal skull morphology	7353	UFD1	ORPHA:567
HP:0000929	Abnormal skull morphology	421	ARVCF	ORPHA:567
HP:0000929	Abnormal skull morphology	23030	KDM4B	OMIM:619320
HP:0000929	Abnormal skull morphology	9990	SLC12A6	ORPHA:1496
HP:0000929	Abnormal skull morphology	10892	MALT1	OMIM:615468
HP:0000929	Abnormal skull morphology	5896	RAG1	OMIM:601457
HP:0000929	Abnormal skull morphology	5897	RAG2	OMIM:601457
HP:0000929	Abnormal skull morphology	7174	TPP2	OMIM:619220
HP:0000929	Abnormal skull morphology	5075	PAX1	OMIM:615560
HP:0000929	Abnormal skull morphology	128	ADH5	OMIM:619151
HP:0000929	Abnormal skull morphology	28981	IFT81	OMIM:617895
HP:0000929	Abnormal skull morphology	9853	RUSC2	OMIM:617773
HP:0000929	Abnormal skull morphology	23135	KDM6B	OMIM:618505
HP:0000929	Abnormal skull morphology	51126	NAA20	OMIM:619717
HP:0000929	Abnormal skull morphology	23118	TAB2	ORPHA:228410
HP:0000929	Abnormal skull morphology	22858	CILK1	OMIM:612651
HP:0000929	Abnormal skull morphology	4297	KMT2A	ORPHA:319182
HP:0000929	Abnormal skull morphology	23327	NEDD4L	OMIM:617201
HP:0000929	Abnormal skull morphology	4598	MVK	OMIM:610377
HP:0000929	Abnormal skull morphology	4598	MVK	ORPHA:29
HP:0000929	Abnormal skull morphology	253738	EBF3	OMIM:617330
HP:0000929	Abnormal skull morphology	23312	DMXL2	OMIM:618663
HP:0000929	Abnormal skull morphology	7701	ZNF142	OMIM:618425
HP:0000929	Abnormal skull morphology	6134	RPL10	ORPHA:459070
HP:0000929	Abnormal skull morphology	6134	RPL10	OMIM:300998
HP:0000929	Abnormal skull morphology	8085	KMT2D	OMIM:620186
HP:0000929	Abnormal skull morphology	5700	PSMC1	OMIM:620071
HP:0000929	Abnormal skull morphology	56098	PCDHGC4	OMIM:619880
HP:0000929	Abnormal skull morphology	10765	KDM5B	OMIM:618109
HP:0000929	Abnormal skull morphology	7681	MKRN3	OMIM:176270
HP:0000929	Abnormal skull morphology	3653	IPW	OMIM:176270
HP:0000929	Abnormal skull morphology	791114	PWRN1	OMIM:176270
HP:0000929	Abnormal skull morphology	100033413	SNORD116-1	OMIM:176270
HP:0000929	Abnormal skull morphology	8924	HERC2	OMIM:176270
HP:0000929	Abnormal skull morphology	145624	PWAR1	OMIM:176270
HP:0000929	Abnormal skull morphology	23742	NPAP1	OMIM:176270
HP:0000929	Abnormal skull morphology	338433	SNORD115-1	OMIM:176270
HP:0000929	Abnormal skull morphology	1482	NKX2-5	ORPHA:3303
HP:0000929	Abnormal skull morphology	137814	NKX2-6	ORPHA:3303
HP:0000929	Abnormal skull morphology	23414	ZFPM2	ORPHA:3303
HP:0000929	Abnormal skull morphology	3791	KDR	ORPHA:3303
HP:0000929	Abnormal skull morphology	2627	GATA6	ORPHA:3303
HP:0000929	Abnormal skull morphology	2657	GDF1	ORPHA:3303
HP:0000929	Abnormal skull morphology	140628	GATA5	ORPHA:3303
HP:0000929	Abnormal skull morphology	2324	FLT4	ORPHA:3303
HP:0000929	Abnormal skull morphology	10370	CITED2	ORPHA:3303
HP:0000929	Abnormal skull morphology	5631	PRPS1	ORPHA:423479
HP:0000929	Abnormal skull morphology	9342	SNAP29	ORPHA:66631
HP:0000929	Abnormal skull morphology	23221	RHOBTB2	OMIM:618004
HP:0000929	Abnormal skull morphology	51305	KCNK9	ORPHA:166108
HP:0000929	Abnormal skull morphology	9997	SCO2	OMIM:604377
HP:0000929	Abnormal skull morphology	2254	FGF9	OMIM:612961
HP:0000929	Abnormal skull morphology	5297	PI4KA	OMIM:616531
HP:0000929	Abnormal skull morphology	5297	PI4KA	OMIM:619708
HP:0000929	Abnormal skull morphology	23233	EXOC6B	OMIM:618395
HP:0000929	Abnormal skull morphology	9320	TRIP12	OMIM:617752
HP:0000929	Abnormal skull morphology	138050	HGSNAT	OMIM:252930
HP:0000929	Abnormal skull morphology	1146	CHRNG	ORPHA:2990
HP:0000929	Abnormal skull morphology	1861	TOR1A	OMIM:618947
HP:0000929	Abnormal skull morphology	10220	GDF11	OMIM:619122
HP:0000929	Abnormal skull morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000929	Abnormal skull morphology	3784	KCNQ1	OMIM:130650
HP:0000929	Abnormal skull morphology	4613	MYCN	OMIM:164280
HP:0000929	Abnormal skull morphology	538	ATP7A	ORPHA:198
HP:0000929	Abnormal skull morphology	5626	PROP1	ORPHA:226307
HP:0000929	Abnormal skull morphology	8022	LHX3	ORPHA:226307
HP:0000929	Abnormal skull morphology	8820	HESX1	ORPHA:226307
HP:0000929	Abnormal skull morphology	405753	DUOXA2	ORPHA:95716
HP:0000929	Abnormal skull morphology	6528	SLC5A5	ORPHA:95716
HP:0000929	Abnormal skull morphology	7038	TG	ORPHA:95716
HP:0000929	Abnormal skull morphology	7173	TPO	ORPHA:95716
HP:0000929	Abnormal skull morphology	389434	IYD	ORPHA:95716
HP:0000929	Abnormal skull morphology	50506	DUOX2	ORPHA:95716
HP:0000929	Abnormal skull morphology	7874	USP7	OMIM:616863
HP:0000929	Abnormal skull morphology	129285	PPP1R21	OMIM:619383
HP:0000929	Abnormal skull morphology	10128	LRPPRC	OMIM:220111
HP:0000929	Abnormal skull morphology	9131	AIFM1	OMIM:300232
HP:0000929	Abnormal skull morphology	6535	SLC6A8	OMIM:300352
HP:0000929	Abnormal skull morphology	6535	SLC6A8	ORPHA:52503
HP:0000929	Abnormal skull morphology	54507	ADAMTSL4	ORPHA:1885
HP:0000929	Abnormal skull morphology	10992	SF3B2	OMIM:164210
HP:0000929	Abnormal skull morphology	118987	PDZD8	OMIM:620021
HP:0000929	Abnormal skull morphology	23126	POGZ	ORPHA:468678
HP:0000929	Abnormal skull morphology	23126	POGZ	OMIM:616364
HP:0000929	Abnormal skull morphology	613	BCR	ORPHA:261330
HP:0000929	Abnormal skull morphology	1399	CRKL	ORPHA:261330
HP:0000929	Abnormal skull morphology	5594	MAPK1	ORPHA:261330
HP:0000929	Abnormal skull morphology	1723	DHODH	OMIM:263750
HP:0000929	Abnormal skull morphology	1723	DHODH	ORPHA:246
HP:0000929	Abnormal skull morphology	10084	PQBP1	ORPHA:93946
HP:0000929	Abnormal skull morphology	10084	PQBP1	OMIM:309500
HP:0000929	Abnormal skull morphology	7021	TFAP2B	ORPHA:46627
HP:0000929	Abnormal skull morphology	51109	RDH11	OMIM:616108
HP:0000929	Abnormal skull morphology	51109	RDH11	ORPHA:436245
HP:0000929	Abnormal skull morphology	55858	TMEM165	OMIM:614727
HP:0000929	Abnormal skull morphology	7020	TFAP2A	OMIM:113620
HP:0000929	Abnormal skull morphology	79813	EHMT1	OMIM:610253
HP:0000929	Abnormal skull morphology	2296	FOXC1	OMIM:602482
HP:0000929	Abnormal skull morphology	4803	NGF	ORPHA:64752
HP:0000929	Abnormal skull morphology	4914	NTRK1	ORPHA:64752
HP:0000929	Abnormal skull morphology	145258	GSC	OMIM:602471
HP:0000929	Abnormal skull morphology	79718	TBL1XR1	OMIM:602342
HP:0000929	Abnormal skull morphology	79718	TBL1XR1	ORPHA:487825
HP:0000929	Abnormal skull morphology	4849	CNOT3	OMIM:618672
HP:0000929	Abnormal skull morphology	6231	RPS26	OMIM:613309
HP:0000929	Abnormal skull morphology	124583	CANT1	OMIM:251450
HP:0000929	Abnormal skull morphology	3835	KIF22	OMIM:603546
HP:0000929	Abnormal skull morphology	23483	TGDS	ORPHA:1388
HP:0000929	Abnormal skull morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000929	Abnormal skull morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000929	Abnormal skull morphology	51574	LARP7	ORPHA:319671
HP:0000929	Abnormal skull morphology	51574	LARP7	OMIM:615071
HP:0000929	Abnormal skull morphology	50945	TBX22	ORPHA:921
HP:0000929	Abnormal skull morphology	8626	TP63	ORPHA:69085
HP:0000929	Abnormal skull morphology	8626	TP63	OMIM:604292
HP:0000929	Abnormal skull morphology	4883	NPR3	OMIM:619543
HP:0000929	Abnormal skull morphology	55212	BBS7	OMIM:615984
HP:0000929	Abnormal skull morphology	1297	COL9A1	ORPHA:250984
HP:0000929	Abnormal skull morphology	1299	COL9A3	ORPHA:250984
HP:0000929	Abnormal skull morphology	84695	LOXL3	ORPHA:250984
HP:0000929	Abnormal skull morphology	128869	PIGU	OMIM:618590
HP:0000929	Abnormal skull morphology	2623	GATA1	OMIM:190685
HP:0000929	Abnormal skull morphology	90161	HS6ST2	OMIM:301025
HP:0000929	Abnormal skull morphology	1741	DLG3	OMIM:300850
HP:0000929	Abnormal skull morphology	51132	RLIM	OMIM:300978
HP:0000929	Abnormal skull morphology	92344	GORAB	OMIM:231070
HP:0000929	Abnormal skull morphology	92344	GORAB	ORPHA:2078
HP:0000929	Abnormal skull morphology	6898	TAT	ORPHA:28378
HP:0000929	Abnormal skull morphology	9343	EFTUD2	OMIM:610536
HP:0000929	Abnormal skull morphology	9343	EFTUD2	ORPHA:79113
HP:0000929	Abnormal skull morphology	6628	SNRPB	OMIM:117650
HP:0000929	Abnormal skull morphology	5702	PSMC3	OMIM:619354
HP:0000929	Abnormal skull morphology	23630	KCNE5	ORPHA:86818
HP:0000929	Abnormal skull morphology	2182	ACSL4	ORPHA:86818
HP:0000929	Abnormal skull morphology	9949	AMMECR1	ORPHA:86818
HP:0000929	Abnormal skull morphology	4256	MGP	OMIM:245150
HP:0000929	Abnormal skull morphology	29920	PYCR2	OMIM:616420
HP:0000929	Abnormal skull morphology	178	AGL	OMIM:232400
HP:0000929	Abnormal skull morphology	387	RHOA	OMIM:618727
HP:0000929	Abnormal skull morphology	4693	NDP	ORPHA:649
HP:0000929	Abnormal skull morphology	9939	RBM8A	OMIM:274000
HP:0000929	Abnormal skull morphology	9130	FAM50A	OMIM:300261
HP:0000929	Abnormal skull morphology	5077	PAX3	OMIM:122880
HP:0000929	Abnormal skull morphology	871	SERPINH1	OMIM:613848
HP:0000929	Abnormal skull morphology	121340	SP7	OMIM:613849
HP:0000929	Abnormal skull morphology	3476	IGBP1	OMIM:300472
HP:0000929	Abnormal skull morphology	3476	IGBP1	ORPHA:52055
HP:0000929	Abnormal skull morphology	2294	FOXF1	OMIM:265380
HP:0000929	Abnormal skull morphology	8367	H4C5	OMIM:619950
HP:0000929	Abnormal skull morphology	10046	MAMLD1	ORPHA:456328
HP:0000929	Abnormal skull morphology	4534	MTM1	ORPHA:456328
HP:0000929	Abnormal skull morphology	8506	CNTNAP1	OMIM:618186
HP:0000929	Abnormal skull morphology	8425	LTBP4	OMIM:613177
HP:0000929	Abnormal skull morphology	10054	UBA2	OMIM:619959
HP:0000929	Abnormal skull morphology	81857	MED25	OMIM:616449
HP:0000929	Abnormal skull morphology	81857	MED25	ORPHA:464738
HP:0000929	Abnormal skull morphology	347734	SLC35B2	OMIM:620269
HP:0000929	Abnormal skull morphology	2629	GBA1	OMIM:608013
HP:0000929	Abnormal skull morphology	54968	TMEM70	ORPHA:1194
HP:0000929	Abnormal skull morphology	80816	ASXL3	OMIM:615485
HP:0000929	Abnormal skull morphology	6536	SLC6A9	OMIM:617301
HP:0000929	Abnormal skull morphology	318	NUDT2	OMIM:619844
HP:0000929	Abnormal skull morphology	129563	DIS3L2	ORPHA:2849
HP:0000929	Abnormal skull morphology	9915	ARNT2	OMIM:615926
HP:0000929	Abnormal skull morphology	29072	SETD2	OMIM:620157
HP:0000929	Abnormal skull morphology	29072	SETD2	OMIM:620155
HP:0000929	Abnormal skull morphology	26153	KIF26A	OMIM:620156
HP:0000929	Abnormal skull morphology	25778	DSTYK	OMIM:270750
HP:0000929	Abnormal skull morphology	25885	POLR1A	OMIM:616462
HP:0000929	Abnormal skull morphology	23184	MESD	OMIM:618644
HP:0000929	Abnormal skull morphology	51319	RSRC1	OMIM:618402
HP:0000929	Abnormal skull morphology	79184	BRCC3	ORPHA:280679
HP:0000929	Abnormal skull morphology	7841	MOGS	OMIM:606056
HP:0000929	Abnormal skull morphology	7841	MOGS	ORPHA:79330
HP:0000929	Abnormal skull morphology	171023	ASXL1	ORPHA:97297
HP:0000929	Abnormal skull morphology	171023	ASXL1	OMIM:605039
HP:0000929	Abnormal skull morphology	8726	EED	OMIM:617561
HP:0000929	Abnormal skull morphology	8726	EED	ORPHA:3447
HP:0000929	Abnormal skull morphology	26053	AUTS2	ORPHA:352490
HP:0000929	Abnormal skull morphology	84314	TMEM107	OMIM:617563
HP:0000929	Abnormal skull morphology	56992	KIF15	OMIM:619981
HP:0000929	Abnormal skull morphology	8550	MAPKAPK5	OMIM:619869
HP:0000929	Abnormal skull morphology	89910	UBE3B	ORPHA:2707
HP:0000929	Abnormal skull morphology	1906	EDN1	OMIM:615706
HP:0000929	Abnormal skull morphology	4247	MGAT2	OMIM:212066
HP:0000929	Abnormal skull morphology	23265	EXOC7	OMIM:619072
HP:0000929	Abnormal skull morphology	9653	HS2ST1	OMIM:619194
HP:0000929	Abnormal skull morphology	51633	OTUD6B	OMIM:617452
HP:0000929	Abnormal skull morphology	51633	OTUD6B	ORPHA:505237
HP:0000929	Abnormal skull morphology	6125	RPL5	OMIM:612561
HP:0000929	Abnormal skull morphology	9508	ADAMTS3	ORPHA:2136
HP:0000929	Abnormal skull morphology	9841	ZBTB24	OMIM:614069
HP:0000929	Abnormal skull morphology	79770	TXNDC15	OMIM:619879
HP:0000929	Abnormal skull morphology	8364	H4C3	OMIM:619758
HP:0000929	Abnormal skull morphology	10290	SPEG	OMIM:615959
HP:0000929	Abnormal skull morphology	10290	SPEG	ORPHA:169186
HP:0000929	Abnormal skull morphology	58	ACTA1	OMIM:161800
HP:0000929	Abnormal skull morphology	2138	EYA1	ORPHA:107
HP:0000929	Abnormal skull morphology	2138	EYA1	OMIM:602588
HP:0000929	Abnormal skull morphology	147912	SIX5	ORPHA:107
HP:0000929	Abnormal skull morphology	6495	SIX1	ORPHA:107
HP:0000929	Abnormal skull morphology	79228	THOC6	ORPHA:363444
HP:0000929	Abnormal skull morphology	27086	FOXP1	ORPHA:391372
HP:0000929	Abnormal skull morphology	27086	FOXP1	OMIM:613670
HP:0000929	Abnormal skull morphology	53335	BCL11A	OMIM:617101
HP:0000929	Abnormal skull morphology	163175	LGI4	OMIM:617468
HP:0000929	Abnormal skull morphology	7025	NR2F1	OMIM:615722
HP:0000929	Abnormal skull morphology	9993	DGCR2	OMIM:192430
HP:0000929	Abnormal skull morphology	8220	ESS2	OMIM:192430
HP:0000929	Abnormal skull morphology	8214	DGCR6	OMIM:192430
HP:0000929	Abnormal skull morphology	54487	DGCR8	OMIM:192430
HP:0000929	Abnormal skull morphology	6899	TBX1	OMIM:192430
HP:0000929	Abnormal skull morphology	91949	COG7	ORPHA:79333
HP:0000929	Abnormal skull morphology	91949	COG7	OMIM:608779
HP:0000929	Abnormal skull morphology	10667	FARS2	ORPHA:466722
HP:0000929	Abnormal skull morphology	23065	EMC1	ORPHA:480898
HP:0000929	Abnormal skull morphology	23065	EMC1	OMIM:616875
HP:0000929	Abnormal skull morphology	56975	FAM20C	ORPHA:1832
HP:0000929	Abnormal skull morphology	2556	GABRA3	OMIM:301091
HP:0000929	Abnormal skull morphology	3187	HNRNPH1	OMIM:620083
HP:0000929	Abnormal skull morphology	5373	PMM2	ORPHA:79318
HP:0000929	Abnormal skull morphology	4677	NARS1	OMIM:619092
HP:0000929	Abnormal skull morphology	57479	PRR12	OMIM:619539
HP:0000929	Abnormal skull morphology	4088	SMAD3	OMIM:613795
HP:0000929	Abnormal skull morphology	4088	SMAD3	ORPHA:284984
HP:0000929	Abnormal skull morphology	4088	SMAD3	ORPHA:91387
HP:0000929	Abnormal skull morphology	2146	EZH2	OMIM:277590
HP:0000929	Abnormal skull morphology	2146	EZH2	ORPHA:3447
HP:0000929	Abnormal skull morphology	55835	CENPJ	OMIM:613676
HP:0000929	Abnormal skull morphology	7048	TGFBR2	OMIM:610168
HP:0000929	Abnormal skull morphology	7048	TGFBR2	ORPHA:91387
HP:0000929	Abnormal skull morphology	79791	FBXO31	OMIM:615979
HP:0000929	Abnormal skull morphology	23512	SUZ12	ORPHA:3447
HP:0000929	Abnormal skull morphology	641	BLM	ORPHA:125
HP:0000929	Abnormal skull morphology	10533	ATG7	OMIM:619422
HP:0000929	Abnormal skull morphology	7046	TGFBR1	OMIM:609192
HP:0000929	Abnormal skull morphology	7046	TGFBR1	ORPHA:91387
HP:0000929	Abnormal skull morphology	51013	EXOSC1	OMIM:619304
HP:0000929	Abnormal skull morphology	1642	DDB1	OMIM:619426
HP:0000929	Abnormal skull morphology	63895	PIEZO2	ORPHA:2461
HP:0000929	Abnormal skull morphology	389827	MYMK	OMIM:254940
HP:0000929	Abnormal skull morphology	274	BIN1	ORPHA:169186
HP:0000929	Abnormal skull morphology	6261	RYR1	ORPHA:169186
HP:0000929	Abnormal skull morphology	7273	TTN	ORPHA:169186
HP:0000929	Abnormal skull morphology	8243	SMC1A	OMIM:301044
HP:0000929	Abnormal skull morphology	1281	COL3A1	OMIM:618343
HP:0000929	Abnormal skull morphology	10466	COG5	ORPHA:263487
HP:0000929	Abnormal skull morphology	30000	TNPO2	OMIM:619556
HP:0000929	Abnormal skull morphology	1859	DYRK1A	ORPHA:268261
HP:0000929	Abnormal skull morphology	54517	PUS7	OMIM:618342
HP:0000929	Abnormal skull morphology	1305	COL13A1	OMIM:616720
HP:0000929	Abnormal skull morphology	55593	OTUD5	OMIM:301056
HP:0000929	Abnormal skull morphology	56945	MRPS22	OMIM:611719
HP:0000929	Abnormal skull morphology	55315	SLC29A3	OMIM:602782
HP:0000929	Abnormal skull morphology	55869	HDAC8	OMIM:300882
HP:0000929	Abnormal skull morphology	6492	SIM1	ORPHA:171829
HP:0000929	Abnormal skull morphology	23291	FBXW11	OMIM:618914
HP:0000929	Abnormal skull morphology	9662	CEP135	OMIM:614673
HP:0000929	Abnormal skull morphology	4953	ODC1	ORPHA:544488
HP:0000929	Abnormal skull morphology	5915	RARB	OMIM:615524
HP:0000929	Abnormal skull morphology	5932	RBBP8	OMIM:251255
HP:0000929	Abnormal skull morphology	79068	FTO	OMIM:612938
HP:0000929	Abnormal skull morphology	3417	IDH1	ORPHA:99646
HP:0000929	Abnormal skull morphology	16	AARS1	OMIM:619691
HP:0000929	Abnormal skull morphology	56915	EXOSC5	OMIM:619576
HP:0000929	Abnormal skull morphology	2530	FUT8	OMIM:618005
HP:0000929	Abnormal skull morphology	55906	ZC4H2	OMIM:314580
HP:0000929	Abnormal skull morphology	23511	NUP188	OMIM:618804
HP:0000929	Abnormal skull morphology	9719	ADAMTSL2	ORPHA:1901
HP:0000929	Abnormal skull morphology	9509	ADAMTS2	ORPHA:1901
HP:0000929	Abnormal skull morphology	81620	CDT1	ORPHA:2554
HP:0000929	Abnormal skull morphology	5000	ORC4	ORPHA:2554
HP:0000929	Abnormal skull morphology	23594	ORC6	ORPHA:2554
HP:0000929	Abnormal skull morphology	990	CDC6	ORPHA:2554
HP:0000929	Abnormal skull morphology	91647	ATPAF2	OMIM:604273
HP:0000929	Abnormal skull morphology	54539	NDUFB11	ORPHA:2556
HP:0000929	Abnormal skull morphology	1349	COX7B	ORPHA:2556
HP:0000929	Abnormal skull morphology	3052	HCCS	ORPHA:2556
HP:0000929	Abnormal skull morphology	2304	FOXE1	ORPHA:1226
HP:0000929	Abnormal skull morphology	444	ASPH	OMIM:601552
HP:0000929	Abnormal skull morphology	10943	MSL3	OMIM:301032
HP:0000929	Abnormal skull morphology	372	ARCN1	OMIM:617164
HP:0000929	Abnormal skull morphology	9758	FRMPD4	OMIM:300983
HP:0000929	Abnormal skull morphology	57511	COG6	OMIM:614576
HP:0000929	Abnormal skull morphology	51729	WBP11	OMIM:619227
HP:0000929	Abnormal skull morphology	5116	PCNT	OMIM:210720
HP:0000929	Abnormal skull morphology	5116	PCNT	ORPHA:2637
HP:0000929	Abnormal skull morphology	6638	SNRPN	ORPHA:177907
HP:0000929	Abnormal skull morphology	9244	CRLF1	OMIM:272430
HP:0000929	Abnormal skull morphology	60	ACTB	OMIM:243310
HP:0000929	Abnormal skull morphology	60	ACTB	ORPHA:2995
HP:0000929	Abnormal skull morphology	8943	AP3D1	OMIM:617050
HP:0000929	Abnormal skull morphology	50814	NSDHL	OMIM:300831
HP:0000929	Abnormal skull morphology	71	ACTG1	OMIM:614583
HP:0000929	Abnormal skull morphology	71	ACTG1	ORPHA:2995
HP:0000929	Abnormal skull morphology	57061	HYMAI	ORPHA:96191
HP:0000929	Abnormal skull morphology	5325	PLAGL1	ORPHA:96191
HP:0000929	Abnormal skull morphology	29895	MYL11	OMIM:619110
HP:0000929	Abnormal skull morphology	348180	CTU2	OMIM:618142
HP:0000929	Abnormal skull morphology	10847	SRCAP	OMIM:619595
HP:0000929	Abnormal skull morphology	340419	RSPO2	OMIM:618022
HP:0000929	Abnormal skull morphology	5530	PPP3CA	OMIM:618265
HP:0000929	Abnormal skull morphology	54796	BNC2	ORPHA:93110
HP:0000929	Abnormal skull morphology	4927	NUP88	OMIM:618393
HP:0000929	Abnormal skull morphology	2222	FDFT1	OMIM:618156
HP:0000929	Abnormal skull morphology	374879	ZNF699	OMIM:619488
HP:0000929	Abnormal skull morphology	440138	ALG11	ORPHA:280071
HP:0000929	Abnormal skull morphology	1806	DPYD	ORPHA:1675
HP:0000929	Abnormal skull morphology	55704	CCDC88A	OMIM:617507
HP:0000929	Abnormal skull morphology	55717	WDR11	OMIM:620237
HP:0000929	Abnormal skull morphology	118924	FRA10AC1	OMIM:620113
HP:0000929	Abnormal skull morphology	22995	CEP152	OMIM:613823
HP:0000929	Abnormal skull morphology	2273	FHL1	OMIM:300280
HP:0000929	Abnormal skull morphology	7169	TPM2	OMIM:108120
HP:0000929	Abnormal skull morphology	55252	ASXL2	OMIM:617190
HP:0000929	Abnormal skull morphology	80267	EDEM3	OMIM:619493
HP:0000929	Abnormal skull morphology	342035	GLDN	OMIM:617194
HP:0000929	Abnormal skull morphology	200205	IBA57	OMIM:615330
HP:0000929	Abnormal skull morphology	2733	GLE1	OMIM:611890
HP:0000929	Abnormal skull morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000929	Abnormal skull morphology	5718	PSMD12	OMIM:617516
HP:0000929	Abnormal skull morphology	4683	NBN	ORPHA:647
HP:0000929	Abnormal skull morphology	23522	KAT6B	ORPHA:3047
HP:0000929	Abnormal skull morphology	5286	PIK3C2A	ORPHA:557003
HP:0000929	Abnormal skull morphology	6223	RPS19	OMIM:105650
HP:0000929	Abnormal skull morphology	84842	HPDL	OMIM:619026
HP:0000929	Abnormal skull morphology	8516	ITGA8	OMIM:191830
HP:0000929	Abnormal skull morphology	375056	MIA3	OMIM:619269
HP:0000929	Abnormal skull morphology	18	ABAT	OMIM:613163
HP:0000929	Abnormal skull morphology	7043	TGFB3	OMIM:615582
HP:0000929	Abnormal skull morphology	7043	TGFB3	ORPHA:91387
HP:0000929	Abnormal skull morphology	22827	PUF60	OMIM:615583
HP:0000929	Abnormal skull morphology	523	ATP6V1A	OMIM:617403
HP:0000929	Abnormal skull morphology	25871	NEPRO	OMIM:618853
HP:0000929	Abnormal skull morphology	7042	TGFB2	OMIM:614816
HP:0000929	Abnormal skull morphology	7042	TGFB2	ORPHA:91387
HP:0000929	Abnormal skull morphology	3480	IGF1R	OMIM:270450
HP:0000929	Abnormal skull morphology	4629	MYH11	ORPHA:91387
HP:0000929	Abnormal skull morphology	4015	LOX	ORPHA:91387
HP:0000929	Abnormal skull morphology	4087	SMAD2	ORPHA:91387
HP:0000929	Abnormal skull morphology	4089	SMAD4	ORPHA:91387
HP:0000929	Abnormal skull morphology	59	ACTA2	ORPHA:91387
HP:0000929	Abnormal skull morphology	5592	PRKG1	ORPHA:91387
HP:0000929	Abnormal skull morphology	2301	FOXE3	ORPHA:91387
HP:0000929	Abnormal skull morphology	4144	MAT2A	ORPHA:91387
HP:0000929	Abnormal skull morphology	23493	HEY2	ORPHA:91387
HP:0000929	Abnormal skull morphology	8076	MFAP5	ORPHA:91387
HP:0000929	Abnormal skull morphology	4638	MYLK	ORPHA:91387
HP:0000929	Abnormal skull morphology	2673	GFPT1	OMIM:608931
HP:0000929	Abnormal skull morphology	1145	CHRNE	OMIM:608931
HP:0000929	Abnormal skull morphology	6840	SVIL	OMIM:619040
HP:0000929	Abnormal skull morphology	535	ATP6V0A1	OMIM:619971
HP:0000929	Abnormal skull morphology	10555	AGPAT2	OMIM:608594
HP:0000929	Abnormal skull morphology	10555	AGPAT2	ORPHA:528
HP:0000929	Abnormal skull morphology	3340	NDST1	OMIM:616116
HP:0000929	Abnormal skull morphology	54345	SOX18	OMIM:137940
HP:0000929	Abnormal skull morphology	388662	SLC6A17	ORPHA:457212
HP:0000929	Abnormal skull morphology	388662	SLC6A17	OMIM:616269
HP:0000929	Abnormal skull morphology	6901	TAFAZZIN	OMIM:302060
HP:0000929	Abnormal skull morphology	26580	BSCL2	OMIM:269700
HP:0000929	Abnormal skull morphology	26580	BSCL2	ORPHA:528
HP:0000929	Abnormal skull morphology	2588	GALNS	OMIM:253000
HP:0000929	Abnormal skull morphology	4810	NHS	ORPHA:627
HP:0000929	Abnormal skull morphology	63932	STEEP1	OMIM:301013
HP:0000929	Abnormal skull morphology	8292	COLQ	ORPHA:98915
HP:0000929	Abnormal skull morphology	5468	PPARG	ORPHA:528
HP:0000929	Abnormal skull morphology	284119	CAVIN1	ORPHA:528
HP:0000929	Abnormal skull morphology	2353	FOS	ORPHA:528
HP:0000929	Abnormal skull morphology	11141	IL1RAPL1	OMIM:300143
HP:0000929	Abnormal skull morphology	83452	RAB33B	OMIM:615222
HP:0000929	Abnormal skull morphology	5567	PRKACB	OMIM:619143
HP:0000929	Abnormal skull morphology	1460	CSNK2B	OMIM:618732
HP:0000929	Abnormal skull morphology	4625	MYH7	ORPHA:324604
HP:0000929	Abnormal skull morphology	9325	TRIP4	OMIM:616866
HP:0000929	Abnormal skull morphology	59336	PRDM13	OMIM:619909
HP:0000929	Abnormal skull morphology	55165	CEP55	OMIM:236500
HP:0000929	Abnormal skull morphology	2245	FGD1	OMIM:305400
HP:0000929	Abnormal skull morphology	2245	FGD1	ORPHA:915
HP:0000929	Abnormal skull morphology	5308	PITX2	ORPHA:782
HP:0000929	Abnormal skull morphology	5308	PITX2	OMIM:180500
HP:0000929	Abnormal skull morphology	7314	UBB	ORPHA:99772
HP:0000929	Abnormal skull morphology	57822	GRHL3	ORPHA:99772
HP:0000929	Abnormal skull morphology	4054	LTBP3	OMIM:601216
HP:0000929	Abnormal skull morphology	4487	MSX1	ORPHA:199306
HP:0000929	Abnormal skull morphology	1739	DLG1	ORPHA:199306
HP:0000929	Abnormal skull morphology	999	CDH1	ORPHA:199306
HP:0000929	Abnormal skull morphology	5156	PDGFRA	ORPHA:199306
HP:0000929	Abnormal skull morphology	9411	ARHGAP29	ORPHA:199306
HP:0000929	Abnormal skull morphology	1748	DLX4	ORPHA:199306
HP:0000929	Abnormal skull morphology	5566	PRKACA	OMIM:619142
HP:0000929	Abnormal skull morphology	80169	CTC1	ORPHA:1775
HP:0000929	Abnormal skull morphology	55135	WRAP53	ORPHA:1775
HP:0000929	Abnormal skull morphology	4869	NPM1	ORPHA:1775
HP:0000929	Abnormal skull morphology	7012	TERC	ORPHA:1775
HP:0000929	Abnormal skull morphology	1134	CHRNA1	OMIM:608930
HP:0000929	Abnormal skull morphology	1134	CHRNA1	OMIM:253290
HP:0000929	Abnormal skull morphology	55154	MSTO1	OMIM:617675
HP:0000929	Abnormal skull morphology	55154	MSTO1	ORPHA:502423
HP:0000929	Abnormal skull morphology	4604	MYBPC1	OMIM:618524
HP:0000929	Abnormal skull morphology	9427	ECEL1	OMIM:615065
HP:0000929	Abnormal skull morphology	5081	PAX7	OMIM:618578
HP:0000929	Abnormal skull morphology	9488	PIGB	OMIM:618580
HP:0000929	Abnormal skull morphology	79912	PYROXD1	OMIM:617258
HP:0000929	Abnormal skull morphology	5396	PRRX1	OMIM:202650
HP:0000929	Abnormal skull morphology	5980	REV3L	ORPHA:570
HP:0000929	Abnormal skull morphology	23129	PLXND1	ORPHA:570
HP:0000929	Abnormal skull morphology	51434	ANAPC7	OMIM:619699
HP:0000929	Abnormal skull morphology	84068	SLC10A7	OMIM:618363
HP:0000929	Abnormal skull morphology	7136	TNNI2	OMIM:601680
HP:0000929	Abnormal skull morphology	7136	TNNI2	ORPHA:1147
HP:0000929	Abnormal skull morphology	7317	UBA1	OMIM:301830
HP:0000929	Abnormal skull morphology	50801	KCNK4	OMIM:618381
HP:0000929	Abnormal skull morphology	199221	DZIP1L	ORPHA:731
HP:0000929	Abnormal skull morphology	5314	PKHD1	ORPHA:731
HP:0000929	Abnormal skull morphology	1303	COL12A1	ORPHA:75840
HP:0000929	Abnormal skull morphology	1303	COL12A1	ORPHA:536516
HP:0000929	Abnormal skull morphology	1291	COL6A1	ORPHA:75840
HP:0000929	Abnormal skull morphology	1292	COL6A2	ORPHA:75840
HP:0000929	Abnormal skull morphology	1293	COL6A3	ORPHA:75840
HP:0000929	Abnormal skull morphology	3782	KCNN3	ORPHA:3473
HP:0000929	Abnormal skull morphology	165	AEBP1	ORPHA:536532
HP:0000929	Abnormal skull morphology	165	AEBP1	OMIM:618000
HP:0000929	Abnormal skull morphology	3211	HOXB1	OMIM:614744
HP:0000929	Abnormal skull morphology	10907	TXNL4A	OMIM:608572
HP:0000929	Abnormal skull morphology	2255	FGF10	ORPHA:2363
HP:0000929	Abnormal skull morphology	2303	FOXC2	OMIM:153400
HP:0000929	Abnormal skull morphology	8216	LZTR1	OMIM:605275
HP:0000929	Abnormal skull morphology	8216	LZTR1	ORPHA:648
HP:0000929	Abnormal skull morphology	10159	ATP6AP2	OMIM:301045
HP:0000929	Abnormal skull morphology	57211	ADGRG6	OMIM:616503
HP:0000929	Abnormal skull morphology	7473	WNT3	OMIM:273395
HP:0000929	Abnormal skull morphology	7473	WNT3	ORPHA:3301
HP:0000929	Abnormal skull morphology	8294	H4C9	OMIM:619951
HP:0000929	Abnormal skull morphology	64220	STRA6	OMIM:601186
HP:0000929	Abnormal skull morphology	716	C1S	ORPHA:75392
HP:0000929	Abnormal skull morphology	715	C1R	ORPHA:75392
HP:0000929	Abnormal skull morphology	22872	SEC31A	OMIM:618651
HP:0000929	Abnormal skull morphology	5424	POLD1	OMIM:615381
HP:0000929	Abnormal skull morphology	4174	MCM5	OMIM:617564
HP:0000929	Abnormal skull morphology	57178	ZMIZ1	OMIM:618659
HP:0000929	Abnormal skull morphology	2248	FGF3	OMIM:610706
HP:0000929	Abnormal skull morphology	2248	FGF3	ORPHA:90024
HP:0000929	Abnormal skull morphology	2542	SLC37A4	OMIM:619525
HP:0000929	Abnormal skull morphology	8218	CLTCL1	ORPHA:453510
HP:0000929	Abnormal skull morphology	23219	FBXO28	OMIM:619777
HP:0000929	Abnormal skull morphology	1363	CPE	OMIM:619326
HP:0000929	Abnormal skull morphology	80347	COASY	OMIM:618266
HP:0000929	Abnormal skull morphology	5236	PGM1	OMIM:614921
HP:0000929	Abnormal skull morphology	22800	RRAS2	ORPHA:648
HP:0000929	Abnormal skull morphology	6016	RIT1	ORPHA:648
HP:0000929	Abnormal skull morphology	6237	RRAS	ORPHA:648
HP:0000929	Abnormal skull morphology	22808	MRAS	ORPHA:648
HP:0000929	Abnormal skull morphology	200734	SPRED2	ORPHA:648
HP:0000929	Abnormal skull morphology	6655	SOS2	ORPHA:648
HP:0000929	Abnormal skull morphology	5922	RASA2	ORPHA:648
HP:0000929	Abnormal skull morphology	83483	PLVAP	OMIM:618183
HP:0000929	Abnormal skull morphology	1073	CFL2	ORPHA:171436
HP:0000929	Abnormal skull morphology	3483	IGFALS	ORPHA:140941
HP:0000929	Abnormal skull morphology	57190	SELENON	ORPHA:2020
HP:0000929	Abnormal skull morphology	4633	MYL2	ORPHA:2020
HP:0000929	Abnormal skull morphology	3679	ITGA7	ORPHA:2020
HP:0000929	Abnormal skull morphology	9200	HACD1	ORPHA:2020
HP:0000929	Abnormal skull morphology	7170	TPM3	ORPHA:2020
HP:0000929	Abnormal skull morphology	7170	TPM3	ORPHA:171439
HP:0000929	Abnormal skull morphology	51776	MAP3K20	ORPHA:2020
HP:0000929	Abnormal skull morphology	5826	ABCD4	OMIM:614857
HP:0000929	Abnormal skull morphology	2615	LRRC32	OMIM:619074
HP:0000929	Abnormal skull morphology	51611	DPH5	OMIM:620070
HP:0000929	Abnormal skull morphology	2065	ERBB3	OMIM:607598
HP:0000929	Abnormal skull morphology	7140	TNNT3	ORPHA:1147
HP:0000929	Abnormal skull morphology	84665	MYPN	ORPHA:171439
HP:0000929	Abnormal skull morphology	390594	KBTBD13	ORPHA:171439
HP:0000929	Abnormal skull morphology	1144	CHRND	OMIM:253290
HP:0000929	Abnormal skull morphology	9780	PIEZO1	OMIM:616843
HP:0000929	Abnormal skull morphology	10525	HYOU1	OMIM:233600
HP:0000929	Abnormal skull morphology	2767	GNA11	ORPHA:1556
HP:0000929	Abnormal skull morphology	151188	ARL6IP6	ORPHA:1556
HP:0000929	Abnormal skull morphology	55023	PHIP	OMIM:617991
HP:0000929	Abnormal skull morphology	4848	CNOT2	OMIM:618608
HP:0000929	Abnormal skull morphology	23529	CLCF1	ORPHA:1545
HP:0000929	Abnormal skull morphology	6736	SRY	ORPHA:1772
HP:0000929	Abnormal skull morphology	2690	GHR	ORPHA:633
HP:0000929	Abnormal skull morphology	91869	RFT1	ORPHA:244310
HP:0000929	Abnormal skull morphology	124997	WDR81	OMIM:617967
HP:0000929	Abnormal skull morphology	10804	GJB6	ORPHA:477
HP:0000929	Abnormal skull morphology	2706	GJB2	ORPHA:477
HP:0000929	Abnormal skull morphology	4593	MUSK	ORPHA:994
HP:0000929	Abnormal skull morphology	5913	RAPSN	ORPHA:994
HP:0000929	Abnormal skull morphology	285489	DOK7	ORPHA:994
HP:0000929	Abnormal skull morphology	2121	EVC	OMIM:225500
HP:0000929	Abnormal skull morphology	132884	EVC2	OMIM:225500
HP:0000929	Abnormal skull morphology	23394	ADNP	ORPHA:404448
HP:0000929	Abnormal skull morphology	26235	FBXL4	OMIM:615471
HP:0000929	Abnormal skull morphology	104	ADARB1	OMIM:618862
HP:0000929	Abnormal skull morphology	8573	CASK	OMIM:300749
HP:0000929	Abnormal skull morphology	6418	SET	OMIM:618106
HP:0000929	Abnormal skull morphology	4897	NRCAM	OMIM:619833
HP:0000929	Abnormal skull morphology	27125	AFF4	ORPHA:444077
HP:0000929	Abnormal skull morphology	5575	PRKAR1B	OMIM:619680
HP:0000929	Abnormal skull morphology	113179	ADAT3	ORPHA:363528
HP:0000929	Abnormal skull morphology	283489	CHAMP1	OMIM:616579
HP:0000929	Abnormal skull morphology	4010	LMX1B	ORPHA:495818
HP:0000929	Abnormal skull morphology	6812	STXBP1	ORPHA:495818
HP:0000929	Abnormal skull morphology	1778	DYNC1H1	OMIM:614563
HP:0000929	Abnormal skull morphology	26999	CYFIP2	OMIM:618008
HP:0000929	Abnormal skull morphology	23036	ZNF292	OMIM:619188
HP:0000929	Abnormal skull morphology	9935	MAFB	ORPHA:233
HP:0000929	Abnormal skull morphology	1123	CHN1	ORPHA:233
HP:0000929	Abnormal skull morphology	5518	PPP2R1A	OMIM:616362
HP:0000929	Abnormal skull morphology	5518	PPP2R1A	ORPHA:457284
HP:0000929	Abnormal skull morphology	57003	CCDC47	OMIM:618268
HP:0000929	Abnormal skull morphology	112858	TP53RK	OMIM:617730
HP:0000929	Abnormal skull morphology	54914	FOCAD	OMIM:619991
HP:0000929	Abnormal skull morphology	490	ATP2B1	OMIM:619910
HP:0000929	Abnormal skull morphology	58508	KMT2C	ORPHA:261652
HP:0000929	Abnormal skull morphology	58508	KMT2C	OMIM:617768
HP:0000929	Abnormal skull morphology	7358	UGDH	OMIM:618792
HP:0000929	Abnormal skull morphology	57502	NLGN4X	OMIM:300495
HP:0000929	Abnormal skull morphology	5430	POLR2A	OMIM:618603
HP:0000929	Abnormal skull morphology	22856	CHSY1	OMIM:605282
HP:0000929	Abnormal skull morphology	1807	DPYS	OMIM:222748
HP:0000929	Abnormal skull morphology	58497	PRUNE1	OMIM:617481
HP:0000929	Abnormal skull morphology	58497	PRUNE1	ORPHA:544469
HP:0000929	Abnormal skull morphology	57647	DHX37	OMIM:618731
HP:0000929	Abnormal skull morphology	8621	CDK13	OMIM:617360
HP:0000929	Abnormal skull morphology	5881	RAC3	OMIM:618577
HP:0000929	Abnormal skull morphology	341208	HEPHL1	OMIM:261990
HP:0000929	Abnormal skull morphology	10535	RNASEH2A	ORPHA:51
HP:0000929	Abnormal skull morphology	84153	RNASEH2C	ORPHA:51
HP:0000929	Abnormal skull morphology	25939	SAMHD1	ORPHA:51
HP:0000929	Abnormal skull morphology	79621	RNASEH2B	ORPHA:51
HP:0000929	Abnormal skull morphology	103	ADAR	ORPHA:51
HP:0000929	Abnormal skull morphology	11277	TREX1	ORPHA:51
HP:0000929	Abnormal skull morphology	100147744	RNU7-1	ORPHA:51
HP:0000929	Abnormal skull morphology	134353	LSM11	ORPHA:51
HP:0000929	Abnormal skull morphology	341640	FREM2	ORPHA:2052
HP:0000929	Abnormal skull morphology	80144	FRAS1	ORPHA:2052
HP:0000929	Abnormal skull morphology	80144	FRAS1	OMIM:219000
HP:0000929	Abnormal skull morphology	23426	GRIP1	ORPHA:2052
HP:0000929	Abnormal skull morphology	54567	DLL4	OMIM:616589
HP:0000929	Abnormal skull morphology	54567	DLL4	ORPHA:1114
HP:0000929	Abnormal skull morphology	54567	DLL4	ORPHA:974
HP:0000929	Abnormal skull morphology	7476	WNT7A	ORPHA:2879
HP:0000929	Abnormal skull morphology	57514	ARHGAP31	OMIM:100300
HP:0000929	Abnormal skull morphology	57514	ARHGAP31	ORPHA:974
HP:0000929	Abnormal skull morphology	197131	UBR1	OMIM:243800
HP:0000929	Abnormal skull morphology	9790	BMS1	ORPHA:1114
HP:0000929	Abnormal skull morphology	3691	ITGB4	ORPHA:1114
HP:0000929	Abnormal skull morphology	80781	COL18A1	ORPHA:1571
HP:0000929	Abnormal skull morphology	5062	PAK2	ORPHA:1571
HP:0000929	Abnormal skull morphology	3516	RBPJ	ORPHA:974
HP:0000929	Abnormal skull morphology	4851	NOTCH1	ORPHA:974
HP:0000929	Abnormal skull morphology	285203	EOGT	ORPHA:974
HP:0000929	Abnormal skull morphology	7528	YY1	ORPHA:506358
HP:0000929	Abnormal skull morphology	64116	SLC39A8	OMIM:616721
HP:0000929	Abnormal skull morphology	64116	SLC39A8	ORPHA:468699
HP:0000929	Abnormal skull morphology	7355	SLC35A2	ORPHA:356961
HP:0000929	Abnormal skull morphology	26115	TANC2	OMIM:618906
HP:0000929	Abnormal skull morphology	27245	AHDC1	ORPHA:412069
HP:0000929	Abnormal skull morphology	10157	AASS	ORPHA:2203
HP:0000929	Abnormal skull morphology	10265	IRX5	OMIM:611174
HP:0000929	Abnormal skull morphology	113189	CHST14	ORPHA:2953
HP:0000929	Abnormal skull morphology	4091	SMAD6	OMIM:617439
HP:0000929	Abnormal skull morphology	29968	PSAT1	ORPHA:284417
HP:0000929	Abnormal skull morphology	29980	DONSON	OMIM:251230
HP:0000929	Abnormal skull morphology	10664	CTCF	ORPHA:363611
HP:0000929	Abnormal skull morphology	149371	EXOC8	OMIM:619076
HP:0000929	Abnormal skull morphology	92002	CCNQ	OMIM:300707
HP:0000929	Abnormal skull morphology	157570	ESCO2	ORPHA:3103
HP:0000929	Abnormal skull morphology	157570	ESCO2	OMIM:268300
HP:0000929	Abnormal skull morphology	4621	MYH3	OMIM:178110
HP:0000929	Abnormal skull morphology	1758	DMP1	ORPHA:289176
HP:0000929	Abnormal skull morphology	1758	DMP1	OMIM:241520
HP:0000929	Abnormal skull morphology	5167	ENPP1	ORPHA:289176
HP:0000929	Abnormal skull morphology	545	ATR	ORPHA:808
HP:0000929	Abnormal skull morphology	1062	CENPE	ORPHA:808
HP:0000929	Abnormal skull morphology	79902	NUP85	ORPHA:808
HP:0000929	Abnormal skull morphology	84126	ATRIP	ORPHA:808
HP:0000929	Abnormal skull morphology	10584	COLEC10	ORPHA:293843
HP:0000929	Abnormal skull morphology	6885	MAP3K7	ORPHA:1826
HP:0000929	Abnormal skull morphology	11011	TLK2	OMIM:618050
HP:0000929	Abnormal skull morphology	56603	CYP26B1	OMIM:614416
HP:0000929	Abnormal skull morphology	3852	KRT5	ORPHA:79396
HP:0000929	Abnormal skull morphology	3861	KRT14	ORPHA:79396
HP:0000929	Abnormal skull morphology	443	ASPA	OMIM:271900
HP:0000929	Abnormal skull morphology	529	ATP6V1E1	ORPHA:357074
HP:0000929	Abnormal skull morphology	5195	PEX14	OMIM:614887
HP:0000929	Abnormal skull morphology	283120	H19	ORPHA:231140
HP:0000929	Abnormal skull morphology	2137	EXTL3	ORPHA:508533
HP:0000929	Abnormal skull morphology	1718	DHCR24	OMIM:602398
HP:0000929	Abnormal skull morphology	1718	DHCR24	ORPHA:35107
HP:0000929	Abnormal skull morphology	1497	CTNS	OMIM:219800
HP:0000929	Abnormal skull morphology	11253	MAN1B1	ORPHA:397941
HP:0000929	Abnormal skull morphology	1139	CHRNA7	ORPHA:199318
HP:0000929	Abnormal skull morphology	83932	SPRTN	OMIM:616200
HP:0000929	Abnormal skull morphology	9820	CUL7	ORPHA:2616
HP:0000929	Abnormal skull morphology	9820	CUL7	OMIM:273750
HP:0000929	Abnormal skull morphology	23363	OBSL1	ORPHA:2616
HP:0000929	Abnormal skull morphology	23363	OBSL1	OMIM:612921
HP:0000929	Abnormal skull morphology	83987	CCDC8	ORPHA:2616
HP:0000929	Abnormal skull morphology	83987	CCDC8	OMIM:614205
HP:0000929	Abnormal skull morphology	7360	UGP2	OMIM:618744
HP:0000929	Abnormal skull morphology	9578	CDC42BPB	OMIM:619841
HP:0000929	Abnormal skull morphology	3020	H3-3A	OMIM:619720
HP:0000929	Abnormal skull morphology	2737	GLI3	ORPHA:380
HP:0000929	Abnormal skull morphology	2737	GLI3	OMIM:175700
HP:0000929	Abnormal skull morphology	3021	H3-3B	OMIM:619721
HP:0000929	Abnormal skull morphology	1855	DVL1	OMIM:616331
HP:0000929	Abnormal skull morphology	1855	DVL1	OMIM:180700
HP:0000929	Abnormal skull morphology	1855	DVL1	ORPHA:3107
HP:0000929	Abnormal skull morphology	8942	KYNU	OMIM:617661
HP:0000929	Abnormal skull morphology	55790	CSGALNACT1	OMIM:618870
HP:0000929	Abnormal skull morphology	5830	PEX5	OMIM:202370
HP:0000929	Abnormal skull morphology	2201	FBN2	OMIM:121050
HP:0000929	Abnormal skull morphology	4286	MITF	OMIM:617306
HP:0000929	Abnormal skull morphology	57539	WDR35	ORPHA:1515
HP:0000929	Abnormal skull morphology	57539	WDR35	OMIM:613610
HP:0000929	Abnormal skull morphology	57539	WDR35	ORPHA:93271
HP:0000929	Abnormal skull morphology	51098	IFT52	ORPHA:1515
HP:0000929	Abnormal skull morphology	57231	SNX14	ORPHA:397709
HP:0000929	Abnormal skull morphology	6660	SOX5	ORPHA:313892
HP:0000929	Abnormal skull morphology	6660	SOX5	OMIM:616803
HP:0000929	Abnormal skull morphology	54	ACP5	OMIM:607944
HP:0000929	Abnormal skull morphology	64359	NXN	OMIM:618529
HP:0000929	Abnormal skull morphology	64359	NXN	ORPHA:1507
HP:0000929	Abnormal skull morphology	4920	ROR2	ORPHA:1507
HP:0000929	Abnormal skull morphology	4920	ROR2	OMIM:268310
HP:0000929	Abnormal skull morphology	5191	PEX7	OMIM:215100
HP:0000929	Abnormal skull morphology	2035	EPB41	ORPHA:288
HP:0000929	Abnormal skull morphology	2995	GYPC	ORPHA:288
HP:0000929	Abnormal skull morphology	6710	SPTB	ORPHA:288
HP:0000929	Abnormal skull morphology	6708	SPTA1	ORPHA:288
HP:0000929	Abnormal skull morphology	1105	CHD1	OMIM:617682
HP:0000929	Abnormal skull morphology	1105	CHD1	ORPHA:529965
HP:0000929	Abnormal skull morphology	10815	CPLX1	ORPHA:280
HP:0000929	Abnormal skull morphology	54872	PIGG	ORPHA:280
HP:0000929	Abnormal skull morphology	7469	NELFA	ORPHA:280
HP:0000929	Abnormal skull morphology	1487	CTBP1	ORPHA:280
HP:0000929	Abnormal skull morphology	1487	CTBP1	OMIM:617915
HP:0000929	Abnormal skull morphology	3954	LETM1	ORPHA:280
HP:0000929	Abnormal skull morphology	7468	NSD2	ORPHA:280
HP:0000929	Abnormal skull morphology	1656	DDX6	OMIM:618653
HP:0000929	Abnormal skull morphology	5813	PURA	ORPHA:438216
HP:0000929	Abnormal skull morphology	2783	GNB2	OMIM:619503
HP:0000929	Abnormal skull morphology	6602	SMARCD1	OMIM:618779
HP:0000929	Abnormal skull morphology	55623	THUMPD1	OMIM:619989
HP:0000929	Abnormal skull morphology	26038	CHD5	OMIM:619873
HP:0000929	Abnormal skull morphology	1182	CLCN3	OMIM:619512
HP:0000929	Abnormal skull morphology	3043	HBB	ORPHA:231214
HP:0000929	Abnormal skull morphology	3043	HBB	ORPHA:231226
HP:0000929	Abnormal skull morphology	142680	SLC34A3	OMIM:241530
HP:0000929	Abnormal skull morphology	57167	SALL4	OMIM:147750
HP:0000929	Abnormal skull morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000929	Abnormal skull morphology	7531	YWHAE	ORPHA:217385
HP:0000929	Abnormal skull morphology	3481	IGF2	OMIM:616489
HP:0000929	Abnormal skull morphology	3481	IGF2	OMIM:180860
HP:0000929	Abnormal skull morphology	3481	IGF2	ORPHA:397590
HP:0000929	Abnormal skull morphology	92609	TIMM50	OMIM:617698
HP:0000929	Abnormal skull morphology	3098	HK1	OMIM:618547
HP:0000929	Abnormal skull morphology	5590	PRKCZ	ORPHA:1606
HP:0000929	Abnormal skull morphology	2563	GABRD	ORPHA:1606
HP:0000929	Abnormal skull morphology	23013	SPEN	ORPHA:1606
HP:0000929	Abnormal skull morphology	23013	SPEN	OMIM:619312
HP:0000929	Abnormal skull morphology	8510	MMP23B	ORPHA:1606
HP:0000929	Abnormal skull morphology	7798	LUZP1	ORPHA:1606
HP:0000929	Abnormal skull morphology	6497	SKI	ORPHA:1606
HP:0000929	Abnormal skull morphology	6497	SKI	ORPHA:2462
HP:0000929	Abnormal skull morphology	6497	SKI	OMIM:182212
HP:0000929	Abnormal skull morphology	10630	PDPN	ORPHA:1606
HP:0000929	Abnormal skull morphology	3339	HSPG2	ORPHA:1606
HP:0000929	Abnormal skull morphology	10277	UBE4B	ORPHA:1606
HP:0000929	Abnormal skull morphology	8514	KCNAB2	ORPHA:1606
HP:0000929	Abnormal skull morphology	473	RERE	ORPHA:1606
HP:0000929	Abnormal skull morphology	473	RERE	ORPHA:494344
HP:0000929	Abnormal skull morphology	473	RERE	OMIM:616975
HP:0000929	Abnormal skull morphology	63976	PRDM16	ORPHA:1606
HP:0000929	Abnormal skull morphology	54897	CASZ1	ORPHA:1606
HP:0000929	Abnormal skull morphology	5727	PTCH1	OMIM:610828
HP:0000929	Abnormal skull morphology	5727	PTCH1	ORPHA:377
HP:0000929	Abnormal skull morphology	5727	PTCH1	OMIM:109400
HP:0000929	Abnormal skull morphology	8314	BAP1	OMIM:619762
HP:0000929	Abnormal skull morphology	83479	DDX59	ORPHA:2919
HP:0000929	Abnormal skull morphology	83479	DDX59	OMIM:174300
HP:0000929	Abnormal skull morphology	6942	TCF20	OMIM:618430
HP:0000929	Abnormal skull morphology	9968	MED12	OMIM:305450
HP:0000929	Abnormal skull morphology	9968	MED12	OMIM:309520
HP:0000929	Abnormal skull morphology	2271	FH	OMIM:606812
HP:0000929	Abnormal skull morphology	8643	PTCH2	ORPHA:377
HP:0000929	Abnormal skull morphology	23556	PIGN	OMIM:614080
HP:0000929	Abnormal skull morphology	23007	PLCH1	OMIM:619895
HP:0000929	Abnormal skull morphology	249	ALPL	OMIM:241510
HP:0000929	Abnormal skull morphology	79989	IFT56	OMIM:619534
HP:0000929	Abnormal skull morphology	7994	KAT6A	OMIM:616268
HP:0000929	Abnormal skull morphology	2720	GLB1	OMIM:230500
HP:0000929	Abnormal skull morphology	2720	GLB1	ORPHA:79255
HP:0000929	Abnormal skull morphology	1107	CHD3	OMIM:618205
HP:0000929	Abnormal skull morphology	2317	FLNB	OMIM:272460
HP:0000929	Abnormal skull morphology	2317	FLNB	OMIM:108721
HP:0000929	Abnormal skull morphology	2317	FLNB	OMIM:108720
HP:0000929	Abnormal skull morphology	2317	FLNB	OMIM:150250
HP:0000929	Abnormal skull morphology	1749	DLX5	OMIM:220600
HP:0000929	Abnormal skull morphology	9742	IFT140	OMIM:266920
HP:0000929	Abnormal skull morphology	26173	INTS1	OMIM:618571
HP:0000929	Abnormal skull morphology	1523	CUX1	OMIM:618330
HP:0000929	Abnormal skull morphology	5587	PRKD1	OMIM:617364
HP:0000929	Abnormal skull morphology	5426	POLE	OMIM:618336
HP:0000929	Abnormal skull morphology	5426	POLE	ORPHA:85173
HP:0000929	Abnormal skull morphology	7227	TRPS1	ORPHA:77258
HP:0000929	Abnormal skull morphology	4921	DDR2	OMIM:271665
HP:0000929	Abnormal skull morphology	8925	HERC1	OMIM:617011
HP:0000929	Abnormal skull morphology	54892	NCAPG2	OMIM:618460
HP:0000929	Abnormal skull morphology	23314	SATB2	ORPHA:251028
HP:0000929	Abnormal skull morphology	23314	SATB2	OMIM:612313
HP:0000929	Abnormal skull morphology	1277	COL1A1	OMIM:259420
HP:0000929	Abnormal skull morphology	1278	COL1A2	OMIM:259420
HP:0000929	Abnormal skull morphology	7707	ZNF148	OMIM:617260
HP:0000929	Abnormal skull morphology	29887	SNX10	OMIM:615085
HP:0000929	Abnormal skull morphology	5515	PPP2CA	OMIM:618354
HP:0000929	Abnormal skull morphology	1747	DLX3	OMIM:190320
HP:0000929	Abnormal skull morphology	1747	DLX3	ORPHA:3352
HP:0000929	Abnormal skull morphology	29998	BICRA	OMIM:619325
HP:0000929	Abnormal skull morphology	4952	OCRL	ORPHA:534
HP:0000929	Abnormal skull morphology	2710	GK	OMIM:307030
HP:0000929	Abnormal skull morphology	9126	SMC3	OMIM:610759
HP:0000929	Abnormal skull morphology	55777	MBD5	OMIM:156200
HP:0000929	Abnormal skull morphology	4784	NFIX	OMIM:602535
HP:0000929	Abnormal skull morphology	4784	NFIX	ORPHA:420179
HP:0000929	Abnormal skull morphology	3039	HBA1	ORPHA:98791
HP:0000929	Abnormal skull morphology	3040	HBA2	ORPHA:98791
HP:0000929	Abnormal skull morphology	4998	ORC1	OMIM:224690
HP:0000929	Abnormal skull morphology	54496	PRMT7	OMIM:617157
HP:0000929	Abnormal skull morphology	10082	GPC6	OMIM:258315
HP:0000929	Abnormal skull morphology	10082	GPC6	ORPHA:93329
HP:0000929	Abnormal skull morphology	5831	PYCR1	OMIM:612940
HP:0000929	Abnormal skull morphology	116442	RAB39B	OMIM:311510
HP:0000929	Abnormal skull morphology	116442	RAB39B	ORPHA:2379
HP:0000929	Abnormal skull morphology	7703	PCGF2	OMIM:618371
HP:0000929	Abnormal skull morphology	23258	DENND5A	OMIM:617281
HP:0000929	Abnormal skull morphology	9496	TBX4	ORPHA:261279
HP:0000929	Abnormal skull morphology	8091	HMGA2	ORPHA:94063
HP:0000929	Abnormal skull morphology	8091	HMGA2	ORPHA:397590
HP:0000929	Abnormal skull morphology	23592	LEMD3	ORPHA:94063
HP:0000929	Abnormal skull morphology	633	BGN	OMIM:300989
HP:0000929	Abnormal skull morphology	164	AP1G1	OMIM:619467
HP:0000929	Abnormal skull morphology	3977	LIFR	OMIM:601559
HP:0000929	Abnormal skull morphology	26040	SETBP1	OMIM:616078
HP:0000929	Abnormal skull morphology	26040	SETBP1	ORPHA:798
HP:0000929	Abnormal skull morphology	2475	MTOR	ORPHA:457485
HP:0000929	Abnormal skull morphology	2475	MTOR	OMIM:616638
HP:0000929	Abnormal skull morphology	4990	SIX6	OMIM:206900
HP:0000929	Abnormal skull morphology	6657	SOX2	OMIM:206900
HP:0000929	Abnormal skull morphology	4882	NPR2	OMIM:602875
HP:0000929	Abnormal skull morphology	4882	NPR2	ORPHA:40
HP:0000929	Abnormal skull morphology	57498	KIDINS220	OMIM:617296
HP:0000929	Abnormal skull morphology	10526	IPO8	OMIM:619472
HP:0000929	Abnormal skull morphology	145173	B3GLCT	OMIM:261540
HP:0000929	Abnormal skull morphology	145173	B3GLCT	ORPHA:709
HP:0000929	Abnormal skull morphology	79005	SCNM1	OMIM:620107
HP:0000929	Abnormal skull morphology	10283	CWC27	OMIM:250410
HP:0000929	Abnormal skull morphology	10283	CWC27	ORPHA:166035
HP:0000929	Abnormal skull morphology	4796	TONSL	OMIM:271510
HP:0000929	Abnormal skull morphology	4796	TONSL	ORPHA:93357
HP:0000929	Abnormal skull morphology	11198	SUPT16H	OMIM:619480
HP:0000929	Abnormal skull morphology	2887	GRB10	ORPHA:96182
HP:0000929	Abnormal skull morphology	23405	DICER1	OMIM:618272
HP:0000929	Abnormal skull morphology	55210	ATAD3A	OMIM:617183
HP:0000929	Abnormal skull morphology	1298	COL9A2	OMIM:600204
HP:0000929	Abnormal skull morphology	3636	INPPL1	OMIM:258480
HP:0000929	Abnormal skull morphology	3636	INPPL1	ORPHA:2746
HP:0000929	Abnormal skull morphology	4841	NONO	OMIM:300967
HP:0000929	Abnormal skull morphology	4841	NONO	ORPHA:466791
HP:0000929	Abnormal skull morphology	8567	MADD	OMIM:619005
HP:0000929	Abnormal skull morphology	5058	PAK1	OMIM:618158
HP:0000929	Abnormal skull morphology	10651	MTX2	OMIM:619127
HP:0000929	Abnormal skull morphology	25839	COG4	ORPHA:85172
HP:0000929	Abnormal skull morphology	64093	SMOC1	OMIM:206920
HP:0000929	Abnormal skull morphology	64093	SMOC1	ORPHA:1106
HP:0000929	Abnormal skull morphology	1028	CDKN1C	ORPHA:85173
HP:0000929	Abnormal skull morphology	1028	CDKN1C	ORPHA:397590
HP:0000929	Abnormal skull morphology	2799	GNS	OMIM:252940
HP:0000929	Abnormal skull morphology	55599	RNPC3	OMIM:618160
HP:0000929	Abnormal skull morphology	23387	SIK3	OMIM:618162
HP:0000929	Abnormal skull morphology	6904	TBCD	OMIM:617193
HP:0000929	Abnormal skull morphology	5528	PPP2R5D	ORPHA:457279
HP:0000929	Abnormal skull morphology	1984	EIF5A	OMIM:619376
HP:0000929	Abnormal skull morphology	89970	RSPRY1	ORPHA:457395
HP:0000929	Abnormal skull morphology	89970	RSPRY1	OMIM:616723
HP:0000929	Abnormal skull morphology	9487	PIGL	OMIM:280000
HP:0000929	Abnormal skull morphology	5557	PRIM1	OMIM:620005
HP:0000929	Abnormal skull morphology	3295	HSD17B4	OMIM:261515
HP:0000929	Abnormal skull morphology	83737	ITCH	ORPHA:228426
HP:0000929	Abnormal skull morphology	83737	ITCH	OMIM:613385
HP:0000929	Abnormal skull morphology	7474	WNT5A	OMIM:180700
HP:0000929	Abnormal skull morphology	7474	WNT5A	ORPHA:3107
HP:0000929	Abnormal skull morphology	9897	WASHC5	ORPHA:7
HP:0000929	Abnormal skull morphology	28952	CCDC22	ORPHA:7
HP:0000929	Abnormal skull morphology	6913	TBX15	OMIM:260660
HP:0000929	Abnormal skull morphology	6913	TBX15	ORPHA:93333
HP:0000929	Abnormal skull morphology	55181	SMG8	OMIM:619268
HP:0000929	Abnormal skull morphology	284361	EMC10	OMIM:619264
HP:0000929	Abnormal skull morphology	7421	VDR	ORPHA:93160
HP:0000929	Abnormal skull morphology	7421	VDR	OMIM:277440
HP:0000929	Abnormal skull morphology	775	CACNA1C	OMIM:620029
HP:0000929	Abnormal skull morphology	4983	OPHN1	OMIM:300486
HP:0000929	Abnormal skull morphology	4774	NFIA	ORPHA:401986
HP:0000929	Abnormal skull morphology	55112	DYNC2I1	ORPHA:93271
HP:0000929	Abnormal skull morphology	57560	IFT80	ORPHA:93271
HP:0000929	Abnormal skull morphology	79659	DYNC2H1	ORPHA:93271
HP:0000929	Abnormal skull morphology	89891	DYNC2I2	ORPHA:93271
HP:0000929	Abnormal skull morphology	4281	MID1	OMIM:300000
HP:0000929	Abnormal skull morphology	9442	MED27	OMIM:619286
HP:0000929	Abnormal skull morphology	2314	FLII	ORPHA:819
HP:0000929	Abnormal skull morphology	23096	IQSEC2	ORPHA:819
HP:0000929	Abnormal skull morphology	10743	RAI1	ORPHA:819
HP:0000929	Abnormal skull morphology	10522	DEAF1	ORPHA:819
HP:0000929	Abnormal skull morphology	10522	DEAF1	OMIM:615828
HP:0000929	Abnormal skull morphology	6662	SOX9	OMIM:114290
HP:0000929	Abnormal skull morphology	5744	PTHLH	ORPHA:93387
HP:0000929	Abnormal skull morphology	3239	HOXD13	ORPHA:93387
HP:0000929	Abnormal skull morphology	4758	NEU1	ORPHA:812
HP:0000929	Abnormal skull morphology	150468	CKAP2L	ORPHA:3255
HP:0000929	Abnormal skull morphology	4038	LRP4	ORPHA:3258
HP:0000929	Abnormal skull morphology	4038	LRP4	OMIM:614305
HP:0000929	Abnormal skull morphology	324	APC	ORPHA:3258
HP:0000929	Abnormal skull morphology	6595	SMARCA2	OMIM:619293
HP:0000929	Abnormal skull morphology	51360	MBTPS2	ORPHA:2273
HP:0000929	Abnormal skull morphology	57492	ARID1B	OMIM:135900
HP:0000929	Abnormal skull morphology	64324	NSD1	OMIM:117550
HP:0000929	Abnormal skull morphology	672	BRCA1	ORPHA:84
HP:0000929	Abnormal skull morphology	10459	MAD2L2	ORPHA:84
HP:0000929	Abnormal skull morphology	7516	XRCC2	ORPHA:84
HP:0000929	Abnormal skull morphology	29089	UBE2T	ORPHA:84
HP:0000929	Abnormal skull morphology	675	BRCA2	ORPHA:84
HP:0000929	Abnormal skull morphology	55120	FANCL	ORPHA:84
HP:0000929	Abnormal skull morphology	2177	FANCD2	ORPHA:84
HP:0000929	Abnormal skull morphology	2175	FANCA	ORPHA:84
HP:0000929	Abnormal skull morphology	2187	FANCB	ORPHA:84
HP:0000929	Abnormal skull morphology	2176	FANCC	ORPHA:84
HP:0000929	Abnormal skull morphology	2178	FANCE	ORPHA:84
HP:0000929	Abnormal skull morphology	2188	FANCF	ORPHA:84
HP:0000929	Abnormal skull morphology	2189	FANCG	ORPHA:84
HP:0000929	Abnormal skull morphology	5888	RAD51	ORPHA:84
HP:0000929	Abnormal skull morphology	5889	RAD51C	ORPHA:84
HP:0000929	Abnormal skull morphology	55159	RFWD3	ORPHA:84
HP:0000929	Abnormal skull morphology	83990	BRIP1	ORPHA:84
HP:0000929	Abnormal skull morphology	57697	FANCM	ORPHA:84
HP:0000929	Abnormal skull morphology	79728	PALB2	ORPHA:84
HP:0000929	Abnormal skull morphology	84464	SLX4	ORPHA:84
HP:0000929	Abnormal skull morphology	2072	ERCC4	ORPHA:84
HP:0000929	Abnormal skull morphology	55215	FANCI	ORPHA:84
HP:0000929	Abnormal skull morphology	83550	GPR101	ORPHA:963
HP:0000929	Abnormal skull morphology	9049	AIP	ORPHA:963
HP:0000929	Abnormal skull morphology	9049	AIP	ORPHA:99725
HP:0000929	Abnormal skull morphology	9377	COX5A	OMIM:619064
HP:0000929	Abnormal skull morphology	9839	ZEB2	ORPHA:261552
HP:0000929	Abnormal skull morphology	1327	COX4I1	OMIM:619060
HP:0000929	Abnormal skull morphology	9184	BUB3	ORPHA:1052
HP:0000929	Abnormal skull morphology	699	BUB1	ORPHA:1052
HP:0000929	Abnormal skull morphology	9702	CEP57	ORPHA:1052
HP:0000929	Abnormal skull morphology	9702	CEP57	OMIM:614114
HP:0000929	Abnormal skull morphology	9319	TRIP13	ORPHA:1052
HP:0000929	Abnormal skull morphology	701	BUB1B	ORPHA:1052
HP:0000929	Abnormal skull morphology	10682	EBP	ORPHA:35173
HP:0000929	Abnormal skull morphology	10682	EBP	OMIM:302960
HP:0000929	Abnormal skull morphology	4591	TRIM37	OMIM:253250
HP:0000929	Abnormal skull morphology	1954	MEGF8	OMIM:614976
HP:0000929	Abnormal skull morphology	4338	MOCS2	OMIM:252160
HP:0000929	Abnormal skull morphology	657	BMPR1A	ORPHA:79076
HP:0000929	Abnormal skull morphology	25942	SIN3A	OMIM:613406
HP:0000929	Abnormal skull morphology	6197	RPS6KA3	ORPHA:276630
HP:0000929	Abnormal skull morphology	6197	RPS6KA3	ORPHA:192
HP:0000929	Abnormal skull morphology	5251	PHEX	ORPHA:89936
HP:0000929	Abnormal skull morphology	5251	PHEX	OMIM:307800
HP:0000929	Abnormal skull morphology	1857	DVL3	ORPHA:3107
HP:0000929	Abnormal skull morphology	1857	DVL3	OMIM:616894
HP:0000929	Abnormal skull morphology	2535	FZD2	ORPHA:3107
HP:0000929	Abnormal skull morphology	2535	FZD2	OMIM:164745
HP:0000929	Abnormal skull morphology	2535	FZD2	ORPHA:93328
HP:0000929	Abnormal skull morphology	2332	FMR1	ORPHA:908
HP:0000929	Abnormal skull morphology	285175	UNC80	OMIM:616801
HP:0000929	Abnormal skull morphology	285175	UNC80	ORPHA:371364
HP:0000929	Abnormal skull morphology	11128	POLR3A	OMIM:264090
HP:0000929	Abnormal skull morphology	11128	POLR3A	ORPHA:3455
HP:0000929	Abnormal skull morphology	23137	SMC5	OMIM:620185
HP:0000929	Abnormal skull morphology	57459	GATAD2B	ORPHA:363686
HP:0000929	Abnormal skull morphology	728294	D2HGDH	OMIM:600721
HP:0000929	Abnormal skull morphology	6774	STAT3	OMIM:147060
HP:0000929	Abnormal skull morphology	5324	PLAG1	ORPHA:397590
HP:0000929	Abnormal skull morphology	182	JAG1	OMIM:118450
HP:0000929	Abnormal skull morphology	4221	MEN1	ORPHA:99725
HP:0000929	Abnormal skull morphology	471	ATIC	OMIM:608688
HP:0000929	Abnormal skull morphology	388015	RTL1	ORPHA:96334
HP:0000929	Abnormal skull morphology	8788	DLK1	ORPHA:96334
HP:0000929	Abnormal skull morphology	55384	MEG3	ORPHA:96334
HP:0000929	Abnormal skull morphology	114548	NLRP3	OMIM:607115
HP:0000929	Abnormal skull morphology	114548	NLRP3	ORPHA:1451
HP:0000929	Abnormal skull morphology	254065	BRWD3	OMIM:300659
HP:0000929	Abnormal skull morphology	9652	SKIC3	OMIM:222470
HP:0000929	Abnormal skull morphology	10661	KLF1	OMIM:613673
HP:0000929	Abnormal skull morphology	729920	CRPPA	OMIM:614643
HP:0000929	Abnormal skull morphology	1302	COL11A2	OMIM:614524
HP:0000929	Abnormal skull morphology	1836	SLC26A2	ORPHA:93298
HP:0000929	Abnormal skull morphology	91252	SLC39A13	OMIM:612350
HP:0000929	Abnormal skull morphology	2702	GJA5	OMIM:612474
HP:0000929	Abnormal skull morphology	2703	GJA8	OMIM:612474
HP:0000929	Abnormal skull morphology	867	CBL	OMIM:613563
HP:0000929	Abnormal skull morphology	51025	PAM16	OMIM:613320
HP:0000929	Abnormal skull morphology	27152	INTU	OMIM:617925
HP:0000929	Abnormal skull morphology	51053	GMNN	OMIM:616835
HP:0000929	Abnormal skull morphology	2200	FBN1	ORPHA:2462
HP:0000929	Abnormal skull morphology	196528	ARID2	OMIM:617808
HP:0000929	Abnormal skull morphology	3720	JARID2	OMIM:620098
HP:0000929	Abnormal skull morphology	132	ADK	OMIM:614300
HP:0000929	Abnormal skull morphology	9759	HDAC4	ORPHA:1001
HP:0000929	Abnormal skull morphology	11133	KPTN	OMIM:615637
HP:0000929	Abnormal skull morphology	11133	KPTN	ORPHA:397612
HP:0000929	Abnormal skull morphology	23028	KDM1A	OMIM:616728
HP:0000929	Abnormal skull morphology	79650	USB1	OMIM:604173
HP:0000929	Abnormal skull morphology	5160	PDHA1	OMIM:312170
HP:0000929	Abnormal skull morphology	4792	NFKBIA	OMIM:612132
HP:0000929	Abnormal skull morphology	2902	GRIN1	OMIM:617820
HP:0000929	Abnormal skull morphology	10735	STAG2	OMIM:301022
HP:0000929	Abnormal skull morphology	29940	DSE	OMIM:615539
HP:0000929	Abnormal skull morphology	8517	IKBKG	OMIM:300291
HP:0000929	Abnormal skull morphology	1000	CDH2	OMIM:618929
HP:0000929	Abnormal skull morphology	176	ACAN	OMIM:165800
HP:0000929	Abnormal skull morphology	3758	KCNJ1	OMIM:241200
HP:0000929	Abnormal skull morphology	54551	MAGEL2	OMIM:615547
HP:0000929	Abnormal skull morphology	9419	CRIPT	OMIM:615789
HP:0000929	Abnormal skull morphology	139285	AMER1	ORPHA:2780
HP:0000929	Abnormal skull morphology	139285	AMER1	OMIM:300373
HP:0000929	Abnormal skull morphology	55644	OSGEP	OMIM:617729
HP:0000929	Abnormal skull morphology	2313	FLI1	ORPHA:2308
HP:0000929	Abnormal skull morphology	2517	FUCA1	OMIM:230000
HP:0000929	Abnormal skull morphology	7204	TRIO	OMIM:618825
HP:0000929	Abnormal skull morphology	4337	MOCS1	OMIM:252150
HP:0000929	Abnormal skull morphology	51520	LARS1	OMIM:615438
HP:0000929	Abnormal skull morphology	4329	ALDH6A1	OMIM:614105
HP:0000929	Abnormal skull morphology	259232	NALCN	ORPHA:371364
HP:0000929	Abnormal skull morphology	7040	TGFB1	ORPHA:1328
HP:0000929	Abnormal skull morphology	5293	PIK3CD	ORPHA:221139
HP:0000929	Abnormal skull morphology	90417	KNSTRN	ORPHA:221139
HP:0000929	Abnormal skull morphology	8405	SPOP	OMIM:618829
HP:0000929	Abnormal skull morphology	23545	ATP6V0A2	OMIM:219200
HP:0000929	Abnormal skull morphology	128178	EDARADD	OMIM:224900
HP:0000929	Abnormal skull morphology	10913	EDAR	OMIM:224900
HP:0000929	Abnormal skull morphology	284252	KCTD1	OMIM:181270
HP:0000929	Abnormal skull morphology	60401	EDA2R	ORPHA:181
HP:0000929	Abnormal skull morphology	5500	PPP1CB	OMIM:617506
HP:0000929	Abnormal skull morphology	6519	SLC3A1	ORPHA:163690
HP:0000929	Abnormal skull morphology	6519	SLC3A1	ORPHA:163693
HP:0000929	Abnormal skull morphology	9581	PREPL	ORPHA:163690
HP:0000929	Abnormal skull morphology	9581	PREPL	ORPHA:163693
HP:0000929	Abnormal skull morphology	84628	NTNG2	OMIM:618718
HP:0000929	Abnormal skull morphology	113246	C12orf57	OMIM:218340
HP:0000929	Abnormal skull morphology	5495	PPM1B	ORPHA:163693
HP:0000929	Abnormal skull morphology	79823	CAMKMT	ORPHA:163693
HP:0000929	Abnormal skull morphology	51	ACOX1	OMIM:264470
HP:0000929	Abnormal skull morphology	5296	PIK3R2	OMIM:603387
HP:0000929	Abnormal skull morphology	126792	B3GALT6	ORPHA:536467
HP:0000929	Abnormal skull morphology	126792	B3GALT6	OMIM:615349
HP:0000929	Abnormal skull morphology	10020	GNE	OMIM:269921
HP:0000929	Abnormal skull morphology	8777	MPDZ	OMIM:615219
HP:0000929	Abnormal skull morphology	5449	POU1F1	OMIM:613038
HP:0000929	Abnormal skull morphology	23389	MED13L	OMIM:616789
HP:0000929	Abnormal skull morphology	9757	KMT2B	OMIM:619934
HP:0000929	Abnormal skull morphology	9469	CHST3	OMIM:245600
HP:0000929	Abnormal skull morphology	26229	B3GAT3	OMIM:245600
HP:0000929	Abnormal skull morphology	1280	COL2A1	OMIM:200610
HP:0000929	Abnormal skull morphology	2036	EPB41L1	OMIM:614257
HP:0000929	Abnormal skull morphology	10736	SIX2	ORPHA:488437
HP:0000929	Abnormal skull morphology	8398	PLA2G6	OMIM:256600
HP:0000929	Abnormal skull morphology	25	ABL1	OMIM:617602
HP:0000929	Abnormal skull morphology	1289	COL5A1	OMIM:130000
HP:0000929	Abnormal skull morphology	3769	KCNJ13	ORPHA:65
HP:0000929	Abnormal skull morphology	343035	RD3	ORPHA:65
HP:0000929	Abnormal skull morphology	145226	RDH12	ORPHA:65
HP:0000929	Abnormal skull morphology	1406	CRX	ORPHA:65
HP:0000929	Abnormal skull morphology	64802	NMNAT1	ORPHA:65
HP:0000929	Abnormal skull morphology	10383	TUBB4B	ORPHA:65
HP:0000929	Abnormal skull morphology	85015	USP45	ORPHA:65
HP:0000929	Abnormal skull morphology	6121	RPE65	ORPHA:65
HP:0000929	Abnormal skull morphology	23418	CRB1	ORPHA:65
HP:0000929	Abnormal skull morphology	5130	PCYT1A	ORPHA:65
HP:0000929	Abnormal skull morphology	9657	IQCB1	ORPHA:65
HP:0000929	Abnormal skull morphology	392255	GDF6	ORPHA:65
HP:0000929	Abnormal skull morphology	23746	AIPL1	ORPHA:65
HP:0000929	Abnormal skull morphology	3000	GUCY2D	ORPHA:65
HP:0000929	Abnormal skull morphology	9227	LRAT	ORPHA:65
HP:0000929	Abnormal skull morphology	55812	SPATA7	ORPHA:65
HP:0000929	Abnormal skull morphology	7287	TULP1	ORPHA:65
HP:0000929	Abnormal skull morphology	167691	LCA5	ORPHA:65
HP:0000929	Abnormal skull morphology	3614	IMPDH1	ORPHA:65
HP:0000929	Abnormal skull morphology	23241	PACS2	OMIM:618067
HP:0000929	Abnormal skull morphology	284086	NEK8	OMIM:615415
HP:0000929	Abnormal skull morphology	501	ALDH7A1	ORPHA:3006
HP:0000929	Abnormal skull morphology	23203	PMPCA	ORPHA:1170
HP:0000929	Abnormal skull morphology	57716	PRX	OMIM:614895
HP:0000929	Abnormal skull morphology	79879	CCDC134	OMIM:619795
HP:0000929	Abnormal skull morphology	5593	PRKG2	OMIM:619638
HP:0000929	Abnormal skull morphology	5352	PLOD2	ORPHA:2771
HP:0000929	Abnormal skull morphology	5352	PLOD2	OMIM:609220
HP:0000929	Abnormal skull morphology	65125	WNK1	ORPHA:970
HP:0000929	Abnormal skull morphology	54463	RETREG1	ORPHA:970
HP:0000929	Abnormal skull morphology	11014	KDELR2	OMIM:619131
HP:0000929	Abnormal skull morphology	55603	TENT5A	OMIM:617952
HP:0000929	Abnormal skull morphology	64919	BCL11B	OMIM:617237
HP:0000929	Abnormal skull morphology	387733	IFITM5	OMIM:610967
HP:0000929	Abnormal skull morphology	7067	THRA	OMIM:614450
HP:0000929	Abnormal skull morphology	649	BMP1	OMIM:614856
HP:0000929	Abnormal skull morphology	55699	IARS2	OMIM:616007
HP:0000929	Abnormal skull morphology	5885	RAD21	OMIM:614701
HP:0000929	Abnormal skull morphology	10273	STUB1	ORPHA:412057
HP:0000929	Abnormal skull morphology	7080	NKX2-1	ORPHA:209905
HP:0000929	Abnormal skull morphology	4094	MAF	ORPHA:1272
HP:0000929	Abnormal skull morphology	10940	POP1	OMIM:617396
HP:0000929	Abnormal skull morphology	8985	PLOD3	OMIM:612394
HP:0000929	Abnormal skull morphology	2990	GUSB	OMIM:253220
HP:0000929	Abnormal skull morphology	65082	VPS33A	OMIM:617303
HP:0000929	Abnormal skull morphology	6023	RMRP	OMIM:607095
HP:0000929	Abnormal skull morphology	9361	LONP1	OMIM:600373
HP:0000929	Abnormal skull morphology	81794	ADAMTS10	OMIM:277600
HP:0000929	Abnormal skull morphology	6473	SHOX	ORPHA:240
HP:0000929	Abnormal skull morphology	4524	MTHFR	ORPHA:563612
HP:0000929	Abnormal skull morphology	57216	VANGL2	ORPHA:563612
HP:0000929	Abnormal skull morphology	5162	PDHB	ORPHA:255138
HP:0000929	Abnormal skull morphology	5649	RELN	ORPHA:89844
HP:0000929	Abnormal skull morphology	10300	KATNB1	ORPHA:89844
HP:0000929	Abnormal skull morphology	54820	NDE1	ORPHA:89844
HP:0000929	Abnormal skull morphology	6591	SNAI2	ORPHA:2884
HP:0000929	Abnormal skull morphology	3815	KIT	ORPHA:2884
HP:0000929	Abnormal skull morphology	3178	HNRNPA1	ORPHA:52430
HP:0000929	Abnormal skull morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0000929	Abnormal skull morphology	2074	ERCC6	OMIM:133540
HP:0000929	Abnormal skull morphology	6424	SFRP4	OMIM:265900
HP:0000929	Abnormal skull morphology	8905	AP1S2	ORPHA:85335
HP:0000929	Abnormal skull morphology	8905	AP1S2	OMIM:304340
HP:0000929	Abnormal skull morphology	3248	HPGD	OMIM:259100
HP:0000929	Abnormal skull morphology	5745	PTH1R	OMIM:600002
HP:0000929	Abnormal skull morphology	26503	SLC17A5	OMIM:604369
HP:0000929	Abnormal skull morphology	4854	NOTCH3	OMIM:130720
HP:0000929	Abnormal skull morphology	79639	TMEM53	OMIM:619727
HP:0000929	Abnormal skull morphology	1161	ERCC8	OMIM:216400
HP:0000929	Abnormal skull morphology	54808	DYM	OMIM:223800
HP:0000929	Abnormal skull morphology	64135	IFIH1	OMIM:182250
HP:0000929	Abnormal skull morphology	84295	PHF6	OMIM:301900
HP:0000929	Abnormal skull morphology	6611	SMS	OMIM:309583
HP:0000929	Abnormal skull morphology	166929	SGMS2	OMIM:126550
HP:0000929	Abnormal skull morphology	1009	CDH11	ORPHA:1299
HP:0000929	Abnormal skull morphology	175	AGA	OMIM:208400
HP:0000929	Abnormal skull morphology	175	AGA	ORPHA:93
HP:0000929	Abnormal skull morphology	27019	DNAI1	OMIM:244400
HP:0000929	Abnormal skull morphology	84196	USP48	ORPHA:96253
HP:0000929	Abnormal skull morphology	7157	TP53	ORPHA:96253
HP:0000929	Abnormal skull morphology	9101	USP8	ORPHA:96253
HP:0000929	Abnormal skull morphology	64072	CDH23	ORPHA:96253
HP:0000929	Abnormal skull morphology	2908	NR3C1	ORPHA:96253
HP:0000929	Abnormal skull morphology	546	ATRX	ORPHA:96253
HP:0000929	Abnormal skull morphology	84992	PIGY	ORPHA:247262
HP:0000929	Abnormal skull morphology	84720	PIGO	ORPHA:247262
HP:0000929	Abnormal skull morphology	93210	PGAP3	ORPHA:247262
HP:0000929	Abnormal skull morphology	284098	PIGW	ORPHA:247262
HP:0000929	Abnormal skull morphology	27315	PGAP2	ORPHA:247262
HP:0000929	Abnormal skull morphology	55650	PIGV	ORPHA:247262
HP:0000929	Abnormal skull morphology	8493	PPM1D	OMIM:617450
HP:0000929	Abnormal skull morphology	1387	CREBBP	OMIM:180849
HP:0000929	Abnormal skull morphology	2033	EP300	OMIM:180849
HP:0000929	Abnormal skull morphology	29899	GPSM2	OMIM:604213
HP:0000929	Abnormal skull morphology	6522	SLC4A2	OMIM:620366
HP:0000929	Abnormal skull morphology	3166	HMX1	OMIM:612109
HP:0000929	Abnormal skull morphology	55733	HHAT	ORPHA:1422
HP:0000929	Abnormal skull morphology	5934	RBL2	OMIM:619690
HP:0000929	Abnormal skull morphology	1436	CSF1R	OMIM:618476
HP:0000929	Abnormal skull morphology	3930	LBR	OMIM:215140
HP:0000929	Abnormal skull morphology	3930	LBR	ORPHA:1426
HP:0000929	Abnormal skull morphology	9321	TRIP11	OMIM:200600
HP:0000929	Abnormal skull morphology	6905	TBCE	OMIM:244460
HP:0000929	Abnormal skull morphology	6905	TBCE	ORPHA:93324
HP:0000929	Abnormal skull morphology	10484	SEC23A	ORPHA:50814
HP:0000929	Abnormal skull morphology	4000	LMNA	ORPHA:1662
HP:0000929	Abnormal skull morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000929	Abnormal skull morphology	2132	EXT2	ORPHA:52022
HP:0000929	Abnormal skull morphology	51317	PHF21A	ORPHA:52022
HP:0000929	Abnormal skull morphology	9896	FIG4	OMIM:216340
HP:0000929	Abnormal skull morphology	9896	FIG4	ORPHA:3472
HP:0000929	Abnormal skull morphology	55697	VAC14	ORPHA:3472
HP:0000929	Abnormal skull morphology	10013	HDAC6	OMIM:300863
HP:0000929	Abnormal skull morphology	79796	ALG9	OMIM:263210
HP:0000929	Abnormal skull morphology	202018	TAPT1	OMIM:616897
HP:0000929	Abnormal skull morphology	4352	MPL	ORPHA:3319
HP:0000929	Abnormal skull morphology	7066	THPO	ORPHA:3319
HP:0000929	Abnormal skull morphology	860	RUNX2	ORPHA:1452
HP:0000929	Abnormal skull morphology	84168	ANTXR1	ORPHA:2067
HP:0000929	Abnormal skull morphology	4853	NOTCH2	ORPHA:955
HP:0000929	Abnormal skull morphology	60386	SLC25A19	ORPHA:99742
HP:0000929	Abnormal skull morphology	63901	FAM111A	ORPHA:93325
HP:0000929	Abnormal skull morphology	63901	FAM111A	OMIM:602361
HP:0000929	Abnormal skull morphology	168667	BMPER	OMIM:608022
HP:0000929	Abnormal skull morphology	64175	P3H1	OMIM:610915
HP:0000929	Abnormal skull morphology	3192	HNRNPU	ORPHA:238769
HP:0000929	Abnormal skull morphology	79600	TCTN1	ORPHA:475
HP:0000929	Abnormal skull morphology	79848	CSPP1	ORPHA:475
HP:0000929	Abnormal skull morphology	51684	SUFU	ORPHA:475
HP:0000929	Abnormal skull morphology	54806	AHI1	ORPHA:475
HP:0000929	Abnormal skull morphology	54806	AHI1	ORPHA:220493
HP:0000929	Abnormal skull morphology	153241	CEP120	ORPHA:475
HP:0000929	Abnormal skull morphology	153241	CEP120	ORPHA:220493
HP:0000929	Abnormal skull morphology	65250	CPLANE1	ORPHA:475
HP:0000929	Abnormal skull morphology	65250	CPLANE1	ORPHA:2754
HP:0000929	Abnormal skull morphology	91147	TMEM67	ORPHA:475
HP:0000929	Abnormal skull morphology	91147	TMEM67	ORPHA:1454
HP:0000929	Abnormal skull morphology	200894	ARL13B	ORPHA:475
HP:0000929	Abnormal skull morphology	9731	CEP104	ORPHA:475
HP:0000929	Abnormal skull morphology	219844	HYLS1	ORPHA:475
HP:0000929	Abnormal skull morphology	23247	KATNIP	ORPHA:475
HP:0000929	Abnormal skull morphology	219854	TMEM218	ORPHA:475
HP:0000929	Abnormal skull morphology	54903	MKS1	ORPHA:475
HP:0000929	Abnormal skull morphology	54903	MKS1	ORPHA:220493
HP:0000929	Abnormal skull morphology	95681	CEP41	ORPHA:475
HP:0000929	Abnormal skull morphology	95681	CEP41	ORPHA:220493
HP:0000929	Abnormal skull morphology	9786	KIAA0586	ORPHA:475
HP:0000929	Abnormal skull morphology	56623	INPP5E	ORPHA:475
HP:0000929	Abnormal skull morphology	56623	INPP5E	ORPHA:1454
HP:0000929	Abnormal skull morphology	56623	INPP5E	ORPHA:220493
HP:0000929	Abnormal skull morphology	79867	TCTN2	ORPHA:475
HP:0000929	Abnormal skull morphology	80776	B9D2	ORPHA:475
HP:0000929	Abnormal skull morphology	10464	PIBF1	ORPHA:475
HP:0000929	Abnormal skull morphology	80210	ARMC9	ORPHA:475
HP:0000929	Abnormal skull morphology	23116	TOGARAM1	ORPHA:475
HP:0000929	Abnormal skull morphology	25776	CBY1	ORPHA:475
HP:0000929	Abnormal skull morphology	27077	B9D1	ORPHA:475
HP:0000929	Abnormal skull morphology	403	ARL3	ORPHA:475
HP:0000929	Abnormal skull morphology	65062	TMEM237	ORPHA:475
HP:0000929	Abnormal skull morphology	65062	TMEM237	ORPHA:2318
HP:0000929	Abnormal skull morphology	65062	TMEM237	ORPHA:220497
HP:0000929	Abnormal skull morphology	6309	SC5D	ORPHA:46059
HP:0000929	Abnormal skull morphology	5728	PTEN	OMIM:605309
HP:0000929	Abnormal skull morphology	3265	HRAS	ORPHA:2612
HP:0000929	Abnormal skull morphology	4893	NRAS	ORPHA:2612
HP:0000929	Abnormal skull morphology	9326	ZNHIT3	ORPHA:2836
HP:0000929	Abnormal skull morphology	547	KIF1A	ORPHA:2836
HP:0000929	Abnormal skull morphology	85378	TUBGCP6	ORPHA:2518
HP:0000929	Abnormal skull morphology	27229	TUBGCP4	ORPHA:2518
HP:0000929	Abnormal skull morphology	10733	PLK4	ORPHA:2518
HP:0000929	Abnormal skull morphology	5604	MAP2K1	ORPHA:1340
HP:0000929	Abnormal skull morphology	5605	MAP2K2	ORPHA:1340
HP:0000929	Abnormal skull morphology	673	BRAF	ORPHA:1340
HP:0000929	Abnormal skull morphology	7518	XRCC4	ORPHA:99812
HP:0000929	Abnormal skull morphology	3981	LIG4	ORPHA:99812
HP:0000929	Abnormal skull morphology	10225	CD96	ORPHA:1308
HP:0000929	Abnormal skull morphology	79583	TMEM231	ORPHA:2318
HP:0000929	Abnormal skull morphology	51524	TMEM138	ORPHA:2318
HP:0000929	Abnormal skull morphology	23090	ZNF423	ORPHA:2318
HP:0000929	Abnormal skull morphology	80184	CEP290	ORPHA:2318
HP:0000929	Abnormal skull morphology	51259	TMEM216	ORPHA:2318
HP:0000929	Abnormal skull morphology	51259	TMEM216	ORPHA:2754
HP:0000929	Abnormal skull morphology	57545	CC2D2A	ORPHA:2318
HP:0000929	Abnormal skull morphology	57545	CC2D2A	ORPHA:1454
HP:0000929	Abnormal skull morphology	10210	TOPORS	ORPHA:2754
HP:0000929	Abnormal skull morphology	9851	KIAA0753	ORPHA:2754
HP:0000929	Abnormal skull morphology	26123	TCTN3	ORPHA:2754
HP:0000929	Abnormal skull morphology	5147	PDE6D	ORPHA:2754
HP:0000929	Abnormal skull morphology	8481	OFD1	ORPHA:2754
HP:0000929	Abnormal skull morphology	317662	FAM149B1	ORPHA:2754
HP:0000929	Abnormal skull morphology	374654	KIF7	ORPHA:2754
HP:0000929	Abnormal skull morphology	2626	GATA4	ORPHA:251071
HP:0000929	Abnormal skull morphology	29123	ANKRD11	ORPHA:261250
HP:0000929	Abnormal skull morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000929	Abnormal skull morphology	23322	RPGRIP1L	ORPHA:1454
HP:0000929	Abnormal skull morphology	4867	NPHP1	ORPHA:220497
HP:0000929	Abnormal skull morphology	4212	MEIS2	ORPHA:261190
HP:0000929	Abnormal skull morphology	8450	CUL4B	ORPHA:85293
HP:0000929	Abnormal skull morphology	1717	DHCR7	ORPHA:818
HP:0000929	Abnormal skull morphology	57192	MCOLN1	ORPHA:578
HP:0000929	Abnormal skull morphology	8092	ALX1	ORPHA:306542
HP:0000929	Abnormal skull morphology	5290	PIK3CA	OMIM:612918
HP:0000929	Abnormal skull morphology	4125	MAN2B1	ORPHA:309282
HP:0000929	Abnormal skull morphology	4041	LRP5	ORPHA:3416
HP:0000929	Abnormal skull morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000929	Abnormal skull morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000929	Abnormal skull morphology	9791	PTDSS1	ORPHA:2658
HP:0000929	Abnormal skull morphology	56172	ANKH	OMIM:123000
HP:0000929	Abnormal skull morphology	57187	THOC2	ORPHA:457240
HP:0000929	Abnormal skull morphology	3425	IDUA	OMIM:607014
HP:0000929	Abnormal skull morphology	760	CA2	OMIM:259730
HP:0000929	Abnormal skull morphology	8600	TNFSF11	OMIM:259710
HP:0000929	Abnormal skull morphology	2697	GJA1	ORPHA:2710
HP:0000929	Abnormal skull morphology	28962	OSTM1	OMIM:259720
HP:0000929	Abnormal skull morphology	7840	ALMS1	ORPHA:64
HP:0000929	Abnormal skull morphology	7840	ALMS1	OMIM:203800
HP:0000929	Abnormal skull morphology	2778	GNAS	ORPHA:79443
HP:0000929	Abnormal skull morphology	1947	EFNB1	OMIM:304110
HP:0000929	Abnormal skull morphology	29957	SLC25A24	ORPHA:2095
HP:0000929	Abnormal skull morphology	29957	SLC25A24	OMIM:612289
HP:0000929	Abnormal skull morphology	5034	P4HB	OMIM:112240
HP:0000929	Abnormal skull morphology	2961	GTF2E2	OMIM:616943
HP:0000929	Abnormal skull morphology	2261	FGFR3	ORPHA:53271
HP:0000929	Abnormal skull morphology	2261	FGFR3	OMIM:602849
HP:0000929	Abnormal skull morphology	147372	CCBE1	OMIM:235510
HP:0000929	Abnormal skull morphology	1513	CTSK	ORPHA:763
HP:0000929	Abnormal skull morphology	60529	ALX4	ORPHA:228390
HP:0000929	Abnormal skull morphology	54928	BPNT2	OMIM:614078
HP:0000929	Abnormal skull morphology	2260	FGFR1	OMIM:101600
HP:0000929	Abnormal skull morphology	2260	FGFR1	OMIM:123150
HP:0000929	Abnormal skull morphology	5422	POLA1	ORPHA:163976
HP:0000929	Abnormal skull morphology	5977	DPF2	OMIM:618027
HP:0000929	Abnormal skull morphology	6651	SON	ORPHA:500150
HP:0000929	Abnormal skull morphology	6938	TCF12	OMIM:615314
HP:0000929	Abnormal skull morphology	1801	DPH1	OMIM:616901
HP:0000929	Abnormal skull morphology	1801	DPH1	ORPHA:459061
HP:0000929	Abnormal skull morphology	1788	DNMT3A	OMIM:615879
HP:0000929	Abnormal skull morphology	3845	KRAS	OMIM:609942
HP:0000929	Abnormal skull morphology	526	ATP6V1B2	ORPHA:79500
HP:0000929	Abnormal skull morphology	57465	TBC1D24	ORPHA:79500
HP:0000929	Abnormal skull morphology	55764	IFT122	OMIM:218330
HP:0000929	Abnormal skull morphology	8318	CDC45	OMIM:617063
HP:0000929	Abnormal skull morphology	112752	IFT43	OMIM:614099
HP:0000929	Abnormal skull morphology	57728	WDR19	OMIM:614378
HP:0000929	Abnormal skull morphology	23384	SPECC1L	OMIM:145420
HP:0000929	Abnormal skull morphology	169792	GLIS3	OMIM:610199
HP:0000929	Abnormal skull morphology	3190	HNRNPK	ORPHA:453504
HP:0000929	Abnormal skull morphology	3190	HNRNPK	ORPHA:352665
HP:0000929	Abnormal skull morphology	9401	RECQL4	OMIM:218600
HP:0000929	Abnormal skull morphology	2077	ERF	OMIM:600775
HP:0000929	Abnormal skull morphology	267010	RNU12	OMIM:603116
HP:0000929	Abnormal skull morphology	652	BMP4	OMIM:607932
HP:0000929	Abnormal skull morphology	9871	SEC24D	OMIM:616294
HP:0000929	Abnormal skull morphology	51715	RAB23	OMIM:201000
HP:0000929	Abnormal skull morphology	3590	IL11RA	OMIM:614188
HP:0000929	Abnormal skull morphology	51604	PIGT	OMIM:615398
HP:0000929	Abnormal skull morphology	7545	ZIC1	OMIM:618736
HP:0000929	Abnormal skull morphology	5648	MASP1	OMIM:257920
HP:0000929	Abnormal skull morphology	5447	POR	OMIM:207410
HP:0000929	Abnormal skull morphology	2263	FGFR2	OMIM:207410
HP:0000929	Abnormal skull morphology	2263	FGFR2	OMIM:101400
HP:0000929	Abnormal skull morphology	2263	FGFR2	OMIM:123500
HP:0000929	Abnormal skull morphology	2263	FGFR2	OMIM:101200
HP:0000929	Abnormal skull morphology	7291	TWIST1	OMIM:101400
HP:0000929	Abnormal skull morphology	2688	GH1	OMIM:262400
HP:0000929	Abnormal skull morphology	2670	GFAP	OMIM:203450
HP:0000929	Abnormal skull morphology	2670	GFAP	ORPHA:363717
HP:0000929	Abnormal skull morphology	1795	DOCK3	OMIM:618292
HP:0000929	Abnormal skull morphology	55331	ACER3	OMIM:617762
HP:0000929	Abnormal skull morphology	57194	ATP10A	ORPHA:411515
HP:0000929	Abnormal skull morphology	64419	MTMR14	ORPHA:169189
HP:0000929	Abnormal skull morphology	4618	MYF6	ORPHA:169189
HP:0000929	Abnormal skull morphology	1785	DNM2	ORPHA:169189
HP:0000929	Abnormal skull morphology	84701	COX4I2	OMIM:612714
HP:0000929	Abnormal skull morphology	7415	VCP	ORPHA:329475
HP:0000929	Abnormal skull morphology	7280	TUBB2A	OMIM:615763
HP:0000929	Abnormal skull morphology	9365	KL	OMIM:617994
HP:0000929	Abnormal skull morphology	23067	SETD1B	OMIM:619000
HP:0000929	Abnormal skull morphology	124512	METTL23	OMIM:615942
HP:0000929	Abnormal skull morphology	90993	CREB3L1	OMIM:616229
HP:0000929	Abnormal skull morphology	5479	PPIB	OMIM:259440
HP:0000929	Abnormal skull morphology	3911	LAMA5	OMIM:620076
HP:0000929	Abnormal skull morphology	83700	JAM3	OMIM:613730
HP:0000929	Abnormal skull morphology	53616	ADAM22	OMIM:617933
HP:0000929	Abnormal skull morphology	6571	SLC18A2	ORPHA:352649
HP:0000929	Abnormal skull morphology	22854	NTNG1	ORPHA:3095
HP:0000929	Abnormal skull morphology	55610	VPS50	OMIM:619685
HP:0000929	Abnormal skull morphology	51506	UFC1	OMIM:618076
HP:0000929	Abnormal skull morphology	271	AMPD2	OMIM:615809
HP:0000929	Abnormal skull morphology	4948	OCA2	ORPHA:98794
HP:0000929	Abnormal skull morphology	22796	COG2	OMIM:617395
HP:0000929	Abnormal skull morphology	22796	COG2	ORPHA:435934
HP:0000929	Abnormal skull morphology	9512	PMPCB	OMIM:617954
HP:0000929	Abnormal skull morphology	5119	CHMP1A	OMIM:614961
HP:0000929	Abnormal skull morphology	9692	PRORP	OMIM:619737
HP:0000929	Abnormal skull morphology	8560	DEGS1	OMIM:618404
HP:0000929	Abnormal skull morphology	54675	CRLS1	OMIM:620167
HP:0000929	Abnormal skull morphology	8604	SLC25A12	OMIM:612949
HP:0000929	Abnormal skull morphology	10087	CERT1	OMIM:616351
HP:0000929	Abnormal skull morphology	22884	WDR37	OMIM:618652
HP:0000929	Abnormal skull morphology	2903	GRIN2A	ORPHA:289266
HP:0000929	Abnormal skull morphology	3188	HNRNPH2	OMIM:300986
HP:0000929	Abnormal skull morphology	1641	DCX	ORPHA:2148
HP:0000929	Abnormal skull morphology	11212	PLPBP	OMIM:617290
HP:0000929	Abnormal skull morphology	51501	HIKESHI	OMIM:616881
HP:0000929	Abnormal skull morphology	57468	SLC12A5	OMIM:616645
HP:0000929	Abnormal skull morphology	56947	MFF	ORPHA:485421
HP:0000929	Abnormal skull morphology	56947	MFF	OMIM:617086
HP:0000929	Abnormal skull morphology	539	ATP5PO	OMIM:620359
HP:0000929	Abnormal skull morphology	9440	MED17	OMIM:613668
HP:0000929	Abnormal skull morphology	125988	MICOS13	OMIM:618329
HP:0000929	Abnormal skull morphology	1719	DHFR	OMIM:613839
HP:0000929	Abnormal skull morphology	10079	ATP9A	OMIM:620242
HP:0000929	Abnormal skull morphology	205327	C2orf69	OMIM:619423
HP:0000929	Abnormal skull morphology	51693	TRAPPC2L	OMIM:618331
HP:0000929	Abnormal skull morphology	57017	COQ9	OMIM:614654
HP:0000929	Abnormal skull morphology	27429	HTRA2	OMIM:617248
HP:0000929	Abnormal skull morphology	3329	HSPD1	OMIM:612233
HP:0000929	Abnormal skull morphology	55770	EXOC2	OMIM:619306
HP:0000929	Abnormal skull morphology	2744	GLS	OMIM:618339
HP:0000929	Abnormal skull morphology	79776	ZFHX4	ORPHA:91411
HP:0000929	Abnormal skull morphology	3767	KCNJ11	ORPHA:79134
HP:0000929	Abnormal skull morphology	3767	KCNJ11	ORPHA:99885
HP:0000929	Abnormal skull morphology	3767	KCNJ11	OMIM:618856
HP:0000929	Abnormal skull morphology	6833	ABCC8	ORPHA:79134
HP:0000929	Abnormal skull morphology	6833	ABCC8	ORPHA:99885
HP:0000929	Abnormal skull morphology	2645	GCK	ORPHA:99885
HP:0000929	Abnormal skull morphology	3651	PDX1	ORPHA:99885
HP:0000929	Abnormal skull morphology	3630	INS	ORPHA:99885
HP:0000929	Abnormal skull morphology	58499	ZNF462	OMIM:618619
HP:0000929	Abnormal skull morphology	10312	TCIRG1	ORPHA:210110
HP:0000929	Abnormal skull morphology	1186	CLCN7	ORPHA:210110
HP:0000929	Abnormal skull morphology	9842	PLEKHM1	ORPHA:210110
HP:0000929	Abnormal skull morphology	23516	SLC39A14	OMIM:144755
HP:0000929	Abnormal skull morphology	6916	TBXAS1	OMIM:231095
HP:0000929	Abnormal skull morphology	23347	SMCHD1	OMIM:603457
HP:0000929	Abnormal skull morphology	257	ALX3	OMIM:136760
HP:0000929	Abnormal skull morphology	50964	SOST	OMIM:269500
HP:0000929	Abnormal skull morphology	727676	SNORD118	ORPHA:542310
HP:0000929	Abnormal skull morphology	79158	GNPTAB	OMIM:252500
HP:0000929	Abnormal skull morphology	56896	DPYSL5	OMIM:619435
HP:0000929	Abnormal skull morphology	5573	PRKAR1A	ORPHA:280651
HP:0000929	Abnormal skull morphology	5144	PDE4D	ORPHA:280651
HP:0000929	Abnormal skull morphology	4488	MSX2	ORPHA:60015
HP:0000929	Abnormal skull morphology	3664	IRF6	ORPHA:1300
HP:0000929	Abnormal skull morphology	3664	IRF6	OMIM:119500
HP:0000929	Abnormal skull morphology	9573	GDF3	OMIM:613703
HP:0000929	Abnormal skull morphology	5015	OTX2	ORPHA:990
HP:0000929	Abnormal skull morphology	27161	AGO2	OMIM:619149
HP:0000929	Abnormal skull morphology	1594	CYP27B1	ORPHA:289157
HP:0000929	Abnormal skull morphology	120227	CYP2R1	ORPHA:289157
HP:0000929	Abnormal skull morphology	55503	TRPV6	OMIM:618188
HP:0000929	Abnormal skull morphology	10491	CRTAP	OMIM:610682
HP:0000929	Abnormal skull morphology	8815	BANF1	OMIM:614008
HP:0000929	Abnormal skull morphology	79633	FAT4	OMIM:615546
HP:0000929	Abnormal skull morphology	8642	DCHS1	OMIM:601390
HP:0000929	Abnormal skull morphology	5832	ALDH18A1	OMIM:219150
HP:0000929	Abnormal skull morphology	4313	MMP2	OMIM:259600
HP:0000929	Abnormal skull morphology	89884	LHX4	OMIM:262700
HP:0000929	Abnormal skull morphology	8260	NAA10	OMIM:300855
HP:0000929	Abnormal skull morphology	5159	PDGFRB	OMIM:601812
HP:0000929	Abnormal skull morphology	22943	DKK1	ORPHA:268882
HP:0000929	Abnormal skull morphology	2316	FLNA	OMIM:304120
HP:0000929	Abnormal skull morphology	57688	ZSWIM6	OMIM:603671
HP:0000929	Abnormal skull morphology	81887	LAS1L	ORPHA:3459
HP:0000929	Abnormal skull morphology	9150	CTDP1	OMIM:604168
HP:0000929	Abnormal skull morphology	9150	CTDP1	ORPHA:48431
HP:0000929	Abnormal skull morphology	286053	NSMCE2	ORPHA:436182
HP:0000929	Abnormal skull morphology	2736	GLI2	OMIM:610829
HP:0000929	Abnormal skull morphology	415	ARSL	ORPHA:79345
HP:0000929	Abnormal skull morphology	1896	EDA	OMIM:313500
HP:0000929	Abnormal skull morphology	5295	PIK3R1	ORPHA:3163
HP:0000929	Abnormal skull morphology	81031	SLC2A10	ORPHA:3342
HP:0000929	Abnormal skull morphology	23019	CNOT1	ORPHA:556955
HP:0000929	Abnormal skull morphology	23019	CNOT1	OMIM:618500
HP:0000929	Abnormal skull morphology	157680	VPS13B	ORPHA:193
HP:0000929	Abnormal skull morphology	51594	NBAS	OMIM:614800
HP:0000929	Abnormal skull morphology	6804	STX1A	ORPHA:904
HP:0000929	Abnormal skull morphology	7461	CLIP2	ORPHA:904
HP:0000929	Abnormal skull morphology	84277	DNAJC30	ORPHA:904
HP:0000929	Abnormal skull morphology	8468	FKBP6	ORPHA:904
HP:0000929	Abnormal skull morphology	5982	RFC2	ORPHA:904
HP:0000929	Abnormal skull morphology	2969	GTF2I	ORPHA:904
HP:0000929	Abnormal skull morphology	3984	LIMK1	ORPHA:904
HP:0000929	Abnormal skull morphology	9569	GTF2IRD1	ORPHA:904
HP:0000929	Abnormal skull morphology	155382	VPS37D	ORPHA:904
HP:0000929	Abnormal skull morphology	155368	METTL27	ORPHA:904
HP:0000929	Abnormal skull morphology	114049	BUD23	ORPHA:904
HP:0000929	Abnormal skull morphology	7458	EIF4H	ORPHA:904
HP:0000929	Abnormal skull morphology	84163	GTF2IRD2	ORPHA:904
HP:0000929	Abnormal skull morphology	9275	BCL7B	ORPHA:904
HP:0000929	Abnormal skull morphology	26608	TBL2	ORPHA:904
HP:0000929	Abnormal skull morphology	653361	NCF1	ORPHA:904
HP:0000929	Abnormal skull morphology	135886	TMEM270	ORPHA:904
HP:0000929	Abnormal skull morphology	51085	MLXIPL	ORPHA:904
HP:0000929	Abnormal skull morphology	9031	BAZ1B	ORPHA:904
HP:0000929	Abnormal skull morphology	2006	ELN	ORPHA:904
HP:0000929	Abnormal skull morphology	5184	PEPD	ORPHA:742
HP:0000929	Abnormal skull morphology	51082	POLR1D	OMIM:613717
HP:0000929	Abnormal skull morphology	51082	POLR1D	ORPHA:861
HP:0000929	Abnormal skull morphology	117581	TWIST2	ORPHA:920
HP:0000929	Abnormal skull morphology	117581	TWIST2	OMIM:200110
HP:0000929	Abnormal skull morphology	10262	SF3B4	ORPHA:245
HP:0000929	Abnormal skull morphology	84172	POLR1B	ORPHA:861
HP:0000929	Abnormal skull morphology	9533	POLR1C	ORPHA:861
HP:0000929	Abnormal skull morphology	9533	POLR1C	OMIM:248390
HP:0000929	Abnormal skull morphology	6949	TCOF1	ORPHA:861
HP:0000929	Abnormal skull morphology	1301	COL11A1	ORPHA:560
HP:0000929	Abnormal skull morphology	5818	NECTIN1	ORPHA:3253
HP:0000929	Abnormal skull morphology	55636	CHD7	ORPHA:138
HP:0000929	Abnormal skull morphology	9723	SEMA3E	ORPHA:138
HP:0000929	Abnormal skull morphology	9775	EIF4A3	OMIM:268305
HP:0000929	Abnormal skull morphology	1290	COL5A2	ORPHA:287
HP:0000929	Abnormal skull morphology	6775	STAT4	ORPHA:85408
HP:0000929	Abnormal skull morphology	3560	IL2RB	ORPHA:85408
HP:0000929	Abnormal skull morphology	79722	ANKRD55	ORPHA:85408
HP:0000929	Abnormal skull morphology	26191	PTPN22	ORPHA:85408
HP:0000929	Abnormal skull morphology	919	CD247	ORPHA:85408
HP:0000929	Abnormal skull morphology	3559	IL2RA	ORPHA:85408
HP:0000929	Abnormal skull morphology	5771	PTPN2	ORPHA:85408
HP:0000929	Abnormal skull morphology	5332	PLCB4	ORPHA:137888
HP:0000929	Abnormal skull morphology	2773	GNAI3	ORPHA:137888
HP:0000929	Abnormal skull morphology	3908	LAMA2	ORPHA:258
HP:0000929	Abnormal skull morphology	6496	SIX3	OMIM:157170
HP:0000929	Abnormal skull morphology	78989	COLEC11	OMIM:265050
HP:0000929	Abnormal skull morphology	30008	EFEMP2	OMIM:614437
HP:0000929	Abnormal skull morphology	5824	PEX19	OMIM:614886
HP:0000929	Abnormal skull morphology	30011	SH3KBP1	OMIM:300310
HP:0000929	Abnormal skull morphology	5880	RAC2	OMIM:618986
HP:0000929	Abnormal skull morphology	987	LRBA	OMIM:614700
HP:0000929	Abnormal skull morphology	3426	CFI	OMIM:610984
HP:0000929	Abnormal skull morphology	9094	UNC119	OMIM:615518
HP:0000929	Abnormal skull morphology	6813	STXBP2	OMIM:613101
HP:0000929	Abnormal skull morphology	50615	IL21R	OMIM:615207
HP:0000929	Abnormal skull morphology	85452	CFAP74	OMIM:620197
HP:0000929	Abnormal skull morphology	8382	NME5	OMIM:620032
HP:0000929	Abnormal skull morphology	84905	ZNF341	OMIM:618282
HP:0000929	Abnormal skull morphology	84061	MAGT1	OMIM:300853
HP:0000929	Abnormal skull morphology	10625	IVNS1ABP	OMIM:618969
HP:0000929	Abnormal skull morphology	4194	MDM4	OMIM:618849
HP:0000929	Abnormal skull morphology	3551	IKBKB	OMIM:618204
HP:0000929	Abnormal skull morphology	23765	IL17RA	OMIM:613953
HP:0000929	Abnormal skull morphology	81704	DOCK8	OMIM:243700
HP:0000929	Abnormal skull morphology	81704	DOCK8	ORPHA:217390
HP:0000929	Abnormal skull morphology	721	C4B	OMIM:614379
HP:0000929	Abnormal skull morphology	6688	SPI1	OMIM:619707
HP:0000929	Abnormal skull morphology	5696	PSMB8	OMIM:256040
HP:0000929	Abnormal skull morphology	2214	FCGR3A	OMIM:615707
HP:0000929	Abnormal skull morphology	85016	CFAP300	OMIM:618063
HP:0000929	Abnormal skull morphology	85016	CFAP300	ORPHA:244
HP:0000929	Abnormal skull morphology	2212	FCGR2A	OMIM:219700
HP:0000929	Abnormal skull morphology	83538	ODAD4	OMIM:617092
HP:0000929	Abnormal skull morphology	83538	ODAD4	ORPHA:244
HP:0000929	Abnormal skull morphology	92749	DRC1	OMIM:615294
HP:0000929	Abnormal skull morphology	92749	DRC1	ORPHA:244
HP:0000929	Abnormal skull morphology	1770	DNAH9	OMIM:618300
HP:0000929	Abnormal skull morphology	1770	DNAH9	ORPHA:244
HP:0000929	Abnormal skull morphology	83861	RSPH3	OMIM:616481
HP:0000929	Abnormal skull morphology	83861	RSPH3	ORPHA:244
HP:0000929	Abnormal skull morphology	6103	RPGR	OMIM:300455
HP:0000929	Abnormal skull morphology	6103	RPGR	ORPHA:244
HP:0000929	Abnormal skull morphology	5238	PGM3	ORPHA:443811
HP:0000929	Abnormal skull morphology	64446	DNAI2	OMIM:612444
HP:0000929	Abnormal skull morphology	64446	DNAI2	ORPHA:244
HP:0000929	Abnormal skull morphology	6890	TAP1	OMIM:604571
HP:0000929	Abnormal skull morphology	6891	TAP2	OMIM:604571
HP:0000929	Abnormal skull morphology	6892	TAPBP	OMIM:604571
HP:0000929	Abnormal skull morphology	54440	SASH3	OMIM:301082
HP:0000929	Abnormal skull morphology	3514	IGKC	ORPHA:183675
HP:0000929	Abnormal skull morphology	3501	IGHG2	ORPHA:183675
HP:0000929	Abnormal skull morphology	25981	DNAH1	ORPHA:244
HP:0000929	Abnormal skull morphology	115948	ODAD3	ORPHA:244
HP:0000929	Abnormal skull morphology	115948	ODAD3	OMIM:616037
HP:0000929	Abnormal skull morphology	54768	HYDIN	ORPHA:244
HP:0000929	Abnormal skull morphology	27148	STK36	ORPHA:244
HP:0000929	Abnormal skull morphology	54970	TTC12	ORPHA:244
HP:0000929	Abnormal skull morphology	152110	NEK10	ORPHA:244
HP:0000929	Abnormal skull morphology	2302	FOXJ1	ORPHA:244
HP:0000929	Abnormal skull morphology	2302	FOXJ1	OMIM:618699
HP:0000929	Abnormal skull morphology	221421	RSPH9	ORPHA:244
HP:0000929	Abnormal skull morphology	221421	RSPH9	OMIM:612650
HP:0000929	Abnormal skull morphology	85478	CCDC65	ORPHA:244
HP:0000929	Abnormal skull morphology	85478	CCDC65	OMIM:615504
HP:0000929	Abnormal skull morphology	55036	CCDC40	ORPHA:244
HP:0000929	Abnormal skull morphology	55036	CCDC40	OMIM:613808
HP:0000929	Abnormal skull morphology	51364	ZMYND10	ORPHA:244
HP:0000929	Abnormal skull morphology	6674	SPAG1	ORPHA:244
HP:0000929	Abnormal skull morphology	83544	DNAL1	ORPHA:244
HP:0000929	Abnormal skull morphology	83544	DNAL1	OMIM:614017
HP:0000929	Abnormal skull morphology	89765	RSPH1	ORPHA:244
HP:0000929	Abnormal skull morphology	200373	CFAP221	ORPHA:244
HP:0000929	Abnormal skull morphology	374407	DNAJB13	ORPHA:244
HP:0000929	Abnormal skull morphology	55172	DNAAF2	ORPHA:244
HP:0000929	Abnormal skull morphology	55172	DNAAF2	OMIM:612518
HP:0000929	Abnormal skull morphology	2622	GAS8	ORPHA:244
HP:0000929	Abnormal skull morphology	23639	DNAAF11	ORPHA:244
HP:0000929	Abnormal skull morphology	345895	RSPH4A	ORPHA:244
HP:0000929	Abnormal skull morphology	54919	DNAAF5	ORPHA:244
HP:0000929	Abnormal skull morphology	388389	CCDC103	ORPHA:244
HP:0000929	Abnormal skull morphology	388389	CCDC103	OMIM:614679
HP:0000929	Abnormal skull morphology	93233	ODAD1	ORPHA:244
HP:0000929	Abnormal skull morphology	55130	ODAD2	ORPHA:244
HP:0000929	Abnormal skull morphology	1767	DNAH5	ORPHA:244
HP:0000929	Abnormal skull morphology	345643	MCIDAS	ORPHA:244
HP:0000929	Abnormal skull morphology	56683	CFAP298	ORPHA:244
HP:0000929	Abnormal skull morphology	79925	SPEF2	ORPHA:244
HP:0000929	Abnormal skull morphology	10309	CCNO	ORPHA:244
HP:0000929	Abnormal skull morphology	115399	LRRC56	ORPHA:244
HP:0000929	Abnormal skull morphology	139212	DNAAF6	ORPHA:244
HP:0000929	Abnormal skull morphology	123872	DNAAF1	ORPHA:244
HP:0000929	Abnormal skull morphology	339829	CCDC39	ORPHA:244
HP:0000929	Abnormal skull morphology	339829	CCDC39	OMIM:613807
HP:0000929	Abnormal skull morphology	8701	DNAH11	ORPHA:244
HP:0000929	Abnormal skull morphology	246176	GAS2L2	ORPHA:244
HP:0000929	Abnormal skull morphology	146845	CFAP52	OMIM:619607
HP:0000929	Abnormal skull morphology	25790	CFAP45	OMIM:619608
HP:0000929	Abnormal skull morphology	2890	GRIA1	OMIM:619927
HP:0000929	Abnormal skull morphology	1024	CDK8	OMIM:618748
HP:0000929	Abnormal skull morphology	51124	IER3IP1	OMIM:614231
HP:0000929	Abnormal skull morphology	9918	NCAPD2	OMIM:617983
HP:0000929	Abnormal skull morphology	27185	DISC1	ORPHA:171703
HP:0000929	Abnormal skull morphology	8320	EOMES	ORPHA:171703
HP:0000929	Abnormal skull morphology	10015	PDCD6IP	OMIM:620047
HP:0000929	Abnormal skull morphology	6045	RNF2	OMIM:619460
HP:0000929	Abnormal skull morphology	79023	NUP37	OMIM:618179
HP:0000929	Abnormal skull morphology	4905	NSF	OMIM:619340
HP:0000929	Abnormal skull morphology	5283	PIGH	OMIM:618010
HP:0000929	Abnormal skull morphology	9181	ARHGEF2	OMIM:617523
HP:0000929	Abnormal skull morphology	30813	VSX1	OMIM:614195
HP:0000929	Abnormal skull morphology	25914	RTTN	ORPHA:468631
HP:0000929	Abnormal skull morphology	55719	SLF2	OMIM:620184
HP:0000929	Abnormal skull morphology	4617	MYF5	OMIM:618155
HP:0000929	Abnormal skull morphology	23230	VPS13A	ORPHA:2388
HP:0000929	Abnormal skull morphology	60482	SLC5A7	ORPHA:98914
HP:0000929	Abnormal skull morphology	4649	MYO9A	ORPHA:98914
HP:0000929	Abnormal skull morphology	1103	CHAT	ORPHA:98914
HP:0000929	Abnormal skull morphology	6576	SLC25A1	ORPHA:98914
HP:0000929	Abnormal skull morphology	6843	VAMP1	ORPHA:98914
HP:0000929	Abnormal skull morphology	375790	AGRN	ORPHA:98914
HP:0000929	Abnormal skull morphology	127833	SYT2	ORPHA:98914
HP:0000929	Abnormal skull morphology	6572	SLC18A3	ORPHA:98914
HP:0000929	Abnormal skull morphology	6616	SNAP25	ORPHA:98914
HP:0000929	Abnormal skull morphology	4654	MYOD1	OMIM:618975
HP:0000929	Abnormal skull morphology	8812	CCNK	OMIM:618147
HP:0000929	Abnormal skull morphology	203859	ANO5	ORPHA:53697
HP:0000929	Abnormal skull morphology	79753	SNIP1	OMIM:614501
HP:0000929	Abnormal skull morphology	50940	PDE11A	ORPHA:1359
HP:0000929	Abnormal skull morphology	6452	SH3BP2	OMIM:118400
HP:0000929	Abnormal skull morphology	23102	TBC1D2B	OMIM:619323
HP:0000929	Abnormal skull morphology	199857	ALG14	OMIM:619036
HP:0000929	Abnormal skull morphology	51256	TBC1D7	OMIM:248000
HP:0000929	Abnormal skull morphology	3423	IDS	OMIM:309900
HP:0000929	Abnormal skull morphology	3572	IL6ST	OMIM:618523
HP:0000929	Abnormal skull morphology	55681	SCYL2	ORPHA:1143
HP:0000929	Abnormal skull morphology	84570	COL25A1	ORPHA:1143
HP:0000929	Abnormal skull morphology	57222	ERGIC1	ORPHA:1143
HP:0000929	Abnormal skull morphology	55553	SOX6	OMIM:618971
HP:0000929	Abnormal skull morphology	91179	SCARF2	OMIM:600920
HP:0000929	Abnormal skull morphology	10293	TRAIP	OMIM:616777
HP:0000929	Abnormal skull morphology	55753	OGDHL	OMIM:619701
HP:0000929	Abnormal skull morphology	3762	KCNJ5	ORPHA:37553
HP:0000929	Abnormal skull morphology	3759	KCNJ2	ORPHA:37553
HP:0000929	Abnormal skull morphology	4330	MN1	OMIM:618774
HP:0000929	Abnormal skull morphology	8496	PPFIBP1	OMIM:620024
HP:0000929	Abnormal skull morphology	1272	CNTN1	OMIM:612540
HP:0000929	Abnormal skull morphology	80199	FUZ	ORPHA:1136
HP:0000929	Abnormal skull morphology	4361	MRE11	ORPHA:251347
HP:0000929	Abnormal skull morphology	129685	TAF8	OMIM:619972
HP:0000929	Abnormal skull morphology	6658	SOX3	ORPHA:67045
HP:0000929	Abnormal skull morphology	8738	CRADD	OMIM:614499
HP:0000929	Abnormal skull morphology	2581	GALC	ORPHA:206436
HP:0000929	Abnormal skull morphology	5660	PSAP	ORPHA:206436
HP:0000929	Abnormal skull morphology	23309	SIN3B	ORPHA:500166
HP:0000929	Abnormal skull morphology	57589	RIC1	OMIM:618761
HP:0000929	Abnormal skull morphology	387119	CEP85L	OMIM:618873
HP:0000929	Abnormal skull morphology	55280	CWF19L1	ORPHA:453521
HP:0000929	Abnormal skull morphology	55280	CWF19L1	OMIM:616127
HP:0000929	Abnormal skull morphology	6389	SDHA	ORPHA:3208
HP:0000929	Abnormal skull morphology	644096	SDHAF1	ORPHA:3208
HP:0000929	Abnormal skull morphology	26137	ZBTB20	OMIM:259050
HP:0000929	Abnormal skull morphology	79577	CDC73	ORPHA:143
HP:0000929	Abnormal skull morphology	79577	CDC73	ORPHA:99880
HP:0000929	Abnormal skull morphology	6335	SCN9A	OMIM:167400
HP:0000929	Abnormal skull morphology	404672	GTF2H5	ORPHA:33364
HP:0000929	Abnormal skull morphology	833	CARS1	ORPHA:33364
HP:0000929	Abnormal skull morphology	2068	ERCC2	ORPHA:33364
HP:0000929	Abnormal skull morphology	7737	RNF113A	ORPHA:33364
HP:0000929	Abnormal skull morphology	136647	MPLKIP	ORPHA:33364
HP:0000929	Abnormal skull morphology	6897	TARS1	ORPHA:33364
HP:0000929	Abnormal skull morphology	2071	ERCC3	ORPHA:33364
HP:0000929	Abnormal skull morphology	1499	CTNNB1	ORPHA:54595
HP:0000929	Abnormal skull morphology	4763	NF1	ORPHA:363700
HP:0000929	Abnormal skull morphology	4763	NF1	ORPHA:97685
HP:0000929	Abnormal skull morphology	79759	ZNF668	OMIM:620194
HP:0000929	Abnormal skull morphology	80232	WDR26	ORPHA:513456
HP:0000929	Abnormal skull morphology	80232	WDR26	OMIM:617616
HP:0000929	Abnormal skull morphology	1173	AP2M1	OMIM:618587
HP:0000929	Abnormal skull morphology	27107	ZBTB11	OMIM:618383
HP:0000929	Abnormal skull morphology	55084	SOBP	OMIM:613671
HP:0000932	Abnormal posterior cranial fossa morphology	9839	ZEB2	ORPHA:261537
HP:0000932	Abnormal posterior cranial fossa morphology	9839	ZEB2	ORPHA:261552
HP:0000932	Abnormal posterior cranial fossa morphology	23556	PIGN	ORPHA:280633
HP:0000932	Abnormal posterior cranial fossa morphology	1387	CREBBP	ORPHA:353281
HP:0000932	Abnormal posterior cranial fossa morphology	1387	CREBBP	ORPHA:353277
HP:0000932	Abnormal posterior cranial fossa morphology	4488	MSX2	ORPHA:60015
HP:0000932	Abnormal posterior cranial fossa morphology	60529	ALX4	ORPHA:60015
HP:0000932	Abnormal posterior cranial fossa morphology	91869	RFT1	ORPHA:244310
HP:0000932	Abnormal posterior cranial fossa morphology	2033	EP300	ORPHA:353284
HP:0000932	Abnormal posterior cranial fossa morphology	27077	B9D1	OMIM:614209
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	ORPHA:401973
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	OMIM:300960
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	OMIM:302960
HP:0000932	Abnormal posterior cranial fossa morphology	56896	DPYSL5	OMIM:619435
HP:0000932	Abnormal posterior cranial fossa morphology	3265	HRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	3845	KRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	4893	NRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	4893	NRAS	OMIM:249400
HP:0000932	Abnormal posterior cranial fossa morphology	65062	TMEM237	OMIM:614424
HP:0000932	Abnormal posterior cranial fossa morphology	65062	TMEM237	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	7545	ZIC1	OMIM:616602
HP:0000932	Abnormal posterior cranial fossa morphology	7545	ZIC1	OMIM:618736
HP:0000932	Abnormal posterior cranial fossa morphology	84942	WDR73	OMIM:251300
HP:0000932	Abnormal posterior cranial fossa morphology	2737	GLI3	ORPHA:36
HP:0000932	Abnormal posterior cranial fossa morphology	374654	KIF7	ORPHA:36
HP:0000932	Abnormal posterior cranial fossa morphology	57465	TBC1D24	OMIM:220500
HP:0000932	Abnormal posterior cranial fossa morphology	57465	TBC1D24	ORPHA:79500
HP:0000932	Abnormal posterior cranial fossa morphology	55112	DYNC2I1	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	57560	IFT80	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	57539	WDR35	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	79659	DYNC2H1	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	89891	DYNC2I2	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	84162	BLTP1	OMIM:617822
HP:0000932	Abnormal posterior cranial fossa morphology	4081	MAB21L1	OMIM:618479
HP:0000932	Abnormal posterior cranial fossa morphology	51259	TMEM216	OMIM:603194
HP:0000932	Abnormal posterior cranial fossa morphology	51259	TMEM216	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	55636	CHD7	ORPHA:138
HP:0000932	Abnormal posterior cranial fossa morphology	9723	SEMA3E	ORPHA:138
HP:0000932	Abnormal posterior cranial fossa morphology	84892	POMGNT2	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	148789	B3GALNT2	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	1282	COL4A1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	729920	CRPPA	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	729920	CRPPA	OMIM:614643
HP:0000932	Abnormal posterior cranial fossa morphology	10329	RXYLT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	1605	DAG1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	11041	B4GAT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	11041	B4GAT1	OMIM:615287
HP:0000932	Abnormal posterior cranial fossa morphology	55624	POMGNT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	79068	FTO	OMIM:612938
HP:0000932	Abnormal posterior cranial fossa morphology	57492	ARID1B	OMIM:135900
HP:0000932	Abnormal posterior cranial fossa morphology	57492	ARID1B	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6597	SMARCA4	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6597	SMARCA4	OMIM:614609
HP:0000932	Abnormal posterior cranial fossa morphology	6598	SMARCB1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6598	SMARCB1	OMIM:614608
HP:0000932	Abnormal posterior cranial fossa morphology	6659	SOX4	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	8289	ARID1A	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	8289	ARID1A	OMIM:614607
HP:0000932	Abnormal posterior cranial fossa morphology	5977	DPF2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6601	SMARCC2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6602	SMARCD1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	196528	ARID2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6605	SMARCE1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6605	SMARCE1	OMIM:616938
HP:0000932	Abnormal posterior cranial fossa morphology	6664	SOX11	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	OMIM:219200
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	27315	PGAP2	OMIM:614207
HP:0000932	Abnormal posterior cranial fossa morphology	157570	ESCO2	ORPHA:2319
HP:0000932	Abnormal posterior cranial fossa morphology	5340	PLG	ORPHA:722
HP:0000932	Abnormal posterior cranial fossa morphology	5340	PLG	OMIM:217090
HP:0000932	Abnormal posterior cranial fossa morphology	1717	DHCR7	OMIM:270400
HP:0000932	Abnormal posterior cranial fossa morphology	84314	TMEM107	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	26123	TCTN3	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	79867	TCTN2	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80776	B9D2	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80776	B9D2	OMIM:614175
HP:0000932	Abnormal posterior cranial fossa morphology	79600	TCTN1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	57096	RPGRIP1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80184	CEP290	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80184	CEP290	OMIM:611134
HP:0000932	Abnormal posterior cranial fossa morphology	57545	CC2D2A	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	79583	TMEM231	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	79583	TMEM231	ORPHA:2752
HP:0000932	Abnormal posterior cranial fossa morphology	91147	TMEM67	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	91147	TMEM67	OMIM:607361
HP:0000932	Abnormal posterior cranial fossa morphology	79770	TXNDC15	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	23322	RPGRIP1L	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	54903	MKS1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	54903	MKS1	OMIM:249000
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	OMIM:267010
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	OMIM:208540
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	ORPHA:3032
HP:0000932	Abnormal posterior cranial fossa morphology	23258	DENND5A	OMIM:617281
HP:0000932	Abnormal posterior cranial fossa morphology	171023	ASXL1	ORPHA:97297
HP:0000932	Abnormal posterior cranial fossa morphology	171023	ASXL1	OMIM:605039
HP:0000932	Abnormal posterior cranial fossa morphology	9184	BUB3	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	699	BUB1	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	9702	CEP57	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	9319	TRIP13	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	701	BUB1B	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	701	BUB1B	OMIM:257300
HP:0000932	Abnormal posterior cranial fossa morphology	2260	FGFR1	OMIM:613001
HP:0000932	Abnormal posterior cranial fossa morphology	124997	WDR81	OMIM:617967
HP:0000932	Abnormal posterior cranial fossa morphology	2683	B4GALT1	OMIM:607091
HP:0000932	Abnormal posterior cranial fossa morphology	2683	B4GALT1	ORPHA:79332
HP:0000932	Abnormal posterior cranial fossa morphology	26005	C2CD3	OMIM:615948
HP:0000932	Abnormal posterior cranial fossa morphology	26005	C2CD3	ORPHA:434179
HP:0000932	Abnormal posterior cranial fossa morphology	26227	PHGDH	OMIM:256520
HP:0000932	Abnormal posterior cranial fossa morphology	10804	GJB6	ORPHA:477
HP:0000932	Abnormal posterior cranial fossa morphology	2706	GJB2	ORPHA:477
HP:0000932	Abnormal posterior cranial fossa morphology	4927	NUP88	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	7846	TUBA1A	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	4654	MYOD1	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	4593	MUSK	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	5913	RAPSN	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	6572	SLC18A3	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	285489	DOK7	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	7737	RNF113A	OMIM:300953
HP:0000932	Abnormal posterior cranial fossa morphology	56006	SMG9	OMIM:616920
HP:0000932	Abnormal posterior cranial fossa morphology	998	CDC42	ORPHA:487796
HP:0000932	Abnormal posterior cranial fossa morphology	51524	TMEM138	OMIM:614465
HP:0000932	Abnormal posterior cranial fossa morphology	8239	USP9X	ORPHA:480880
HP:0000932	Abnormal posterior cranial fossa morphology	8239	USP9X	OMIM:300968
HP:0000932	Abnormal posterior cranial fossa morphology	11128	POLR3A	OMIM:264090
HP:0000932	Abnormal posterior cranial fossa morphology	4534	MTM1	OMIM:310400
HP:0000932	Abnormal posterior cranial fossa morphology	526	ATP6V1B2	ORPHA:79500
HP:0000932	Abnormal posterior cranial fossa morphology	54880	BCOR	OMIM:300166
HP:0000932	Abnormal posterior cranial fossa morphology	203068	TUBB	OMIM:156610
HP:0000932	Abnormal posterior cranial fossa morphology	55640	FLVCR2	OMIM:225790
HP:0000932	Abnormal posterior cranial fossa morphology	28952	CCDC22	OMIM:300963
HP:0000932	Abnormal posterior cranial fossa morphology	28952	CCDC22	ORPHA:7
HP:0000932	Abnormal posterior cranial fossa morphology	80210	ARMC9	OMIM:617622
HP:0000932	Abnormal posterior cranial fossa morphology	5500	PPP1CB	OMIM:617506
HP:0000932	Abnormal posterior cranial fossa morphology	54676	GTPBP2	OMIM:617988
HP:0000932	Abnormal posterior cranial fossa morphology	63895	PIEZO2	OMIM:248700
HP:0000932	Abnormal posterior cranial fossa morphology	2239	GPC4	ORPHA:373
HP:0000932	Abnormal posterior cranial fossa morphology	2719	GPC3	ORPHA:373
HP:0000932	Abnormal posterior cranial fossa morphology	2121	EVC	OMIM:225500
HP:0000932	Abnormal posterior cranial fossa morphology	132884	EVC2	OMIM:225500
HP:0000932	Abnormal posterior cranial fossa morphology	153241	CEP120	OMIM:616300
HP:0000932	Abnormal posterior cranial fossa morphology	523	ATP6V1A	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	529	ATP6V1E1	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	3798	KIF5A	OMIM:617235
HP:0000932	Abnormal posterior cranial fossa morphology	1028	CDKN1C	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	3481	IGF2	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	3784	KCNQ1	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	1376	CPT2	ORPHA:228305
HP:0000932	Abnormal posterior cranial fossa morphology	10195	ALG3	ORPHA:79321
HP:0000932	Abnormal posterior cranial fossa morphology	219844	HYLS1	OMIM:236680
HP:0000932	Abnormal posterior cranial fossa morphology	4281	MID1	ORPHA:2745
HP:0000932	Abnormal posterior cranial fossa morphology	8905	AP1S2	OMIM:304340
HP:0000932	Abnormal posterior cranial fossa morphology	11340	EXOSC8	OMIM:616081
HP:0000932	Abnormal posterior cranial fossa morphology	3572	IL6ST	OMIM:619751
HP:0000932	Abnormal posterior cranial fossa morphology	65250	CPLANE1	OMIM:277170
HP:0000932	Abnormal posterior cranial fossa morphology	348180	CTU2	OMIM:618142
HP:0000932	Abnormal posterior cranial fossa morphology	23241	PACS2	OMIM:618067
HP:0000932	Abnormal posterior cranial fossa morphology	22931	RAB18	OMIM:614222
HP:0000932	Abnormal posterior cranial fossa morphology	2972	BRF1	OMIM:616202
HP:0000932	Abnormal posterior cranial fossa morphology	2972	BRF1	ORPHA:444072
HP:0000932	Abnormal posterior cranial fossa morphology	4983	OPHN1	ORPHA:137831
HP:0000932	Abnormal posterior cranial fossa morphology	4983	OPHN1	OMIM:300486
HP:0000932	Abnormal posterior cranial fossa morphology	23126	POGZ	ORPHA:468678
HP:0000932	Abnormal posterior cranial fossa morphology	64324	NSD1	ORPHA:821
HP:0000932	Abnormal posterior cranial fossa morphology	64324	NSD1	OMIM:117550
HP:0000932	Abnormal posterior cranial fossa morphology	29072	SETD2	ORPHA:821
HP:0000932	Abnormal posterior cranial fossa morphology	10297	APC2	ORPHA:821
HP:0000932	Abnormal posterior cranial fossa morphology	79848	CSPP1	ORPHA:397715
HP:0000932	Abnormal posterior cranial fossa morphology	9786	KIAA0586	ORPHA:397715
HP:0000932	Abnormal posterior cranial fossa morphology	9786	KIAA0586	OMIM:616546
HP:0000932	Abnormal posterior cranial fossa morphology	51611	DPH5	OMIM:620070
HP:0000932	Abnormal posterior cranial fossa morphology	128869	PIGU	OMIM:618590
HP:0000932	Abnormal posterior cranial fossa morphology	84197	POMK	OMIM:616094
HP:0000932	Abnormal posterior cranial fossa morphology	285590	SH3PXD2B	OMIM:249420
HP:0000932	Abnormal posterior cranial fossa morphology	1436	CSF1R	OMIM:618476
HP:0000932	Abnormal posterior cranial fossa morphology	10300	KATNB1	OMIM:616212
HP:0000932	Abnormal posterior cranial fossa morphology	2317	FLNB	ORPHA:1190
HP:0000932	Abnormal posterior cranial fossa morphology	4849	CNOT3	OMIM:618672
HP:0000932	Abnormal posterior cranial fossa morphology	7443	VRK1	OMIM:607596
HP:0000932	Abnormal posterior cranial fossa morphology	10978	CLP1	OMIM:615803
HP:0000932	Abnormal posterior cranial fossa morphology	9382	COG1	ORPHA:263508
HP:0000932	Abnormal posterior cranial fossa morphology	5373	PMM2	ORPHA:79318
HP:0000932	Abnormal posterior cranial fossa morphology	5373	PMM2	OMIM:212065
HP:0000932	Abnormal posterior cranial fossa morphology	80267	EDEM3	OMIM:619493
HP:0000932	Abnormal posterior cranial fossa morphology	4718	NDUFC2	OMIM:619170
HP:0000932	Abnormal posterior cranial fossa morphology	23007	PLCH1	OMIM:619895
HP:0000932	Abnormal posterior cranial fossa morphology	7355	SLC35A2	OMIM:300896
HP:0000932	Abnormal posterior cranial fossa morphology	5879	RAC1	OMIM:617751
HP:0000932	Abnormal posterior cranial fossa morphology	5879	RAC1	ORPHA:500159
HP:0000932	Abnormal posterior cranial fossa morphology	4125	MAN2B1	OMIM:248500
HP:0000932	Abnormal posterior cranial fossa morphology	3899	AFF3	OMIM:619297
HP:0000932	Abnormal posterior cranial fossa morphology	10585	POMT1	OMIM:613155
HP:0000932	Abnormal posterior cranial fossa morphology	738	VPS51	OMIM:618606
HP:0000932	Abnormal posterior cranial fossa morphology	8481	OFD1	OMIM:300804
HP:0000932	Abnormal posterior cranial fossa morphology	267010	RNU12	OMIM:620208
HP:0000932	Abnormal posterior cranial fossa morphology	8815	BANF1	OMIM:614008
HP:0000932	Abnormal posterior cranial fossa morphology	23219	FBXO28	OMIM:619777
HP:0000932	Abnormal posterior cranial fossa morphology	51684	SUFU	OMIM:617757
HP:0000932	Abnormal posterior cranial fossa morphology	284086	NEK8	OMIM:615415
HP:0000932	Abnormal posterior cranial fossa morphology	5430	POLR2A	OMIM:618603
HP:0000932	Abnormal posterior cranial fossa morphology	1000	CDH2	OMIM:618929
HP:0000932	Abnormal posterior cranial fossa morphology	501	ALDH7A1	ORPHA:3006
HP:0000932	Abnormal posterior cranial fossa morphology	11212	PLPBP	ORPHA:3006
HP:0000932	Abnormal posterior cranial fossa morphology	84188	FAR1	ORPHA:447753
HP:0000932	Abnormal posterior cranial fossa morphology	5832	ALDH18A1	ORPHA:447753
HP:0000932	Abnormal posterior cranial fossa morphology	37	ACADVL	ORPHA:26793
HP:0000932	Abnormal posterior cranial fossa morphology	2296	FOXC1	OMIM:601631
HP:0000932	Abnormal posterior cranial fossa morphology	25970	SH2B1	ORPHA:261197
HP:0000932	Abnormal posterior cranial fossa morphology	5307	PITX1	OMIM:119800
HP:0000932	Abnormal posterior cranial fossa morphology	8884	SLC5A6	OMIM:618973
HP:0000932	Abnormal posterior cranial fossa morphology	23203	PMPCA	ORPHA:1170
HP:0000932	Abnormal posterior cranial fossa morphology	51300	TIMMDC1	OMIM:618251
HP:0000932	Abnormal posterior cranial fossa morphology	57716	PRX	OMIM:614895
HP:0000932	Abnormal posterior cranial fossa morphology	8550	MAPKAPK5	OMIM:619869
HP:0000932	Abnormal posterior cranial fossa morphology	7280	TUBB2A	OMIM:615763
HP:0000932	Abnormal posterior cranial fossa morphology	55777	MBD5	OMIM:156200
HP:0000932	Abnormal posterior cranial fossa morphology	10060	ABCC9	OMIM:239850
HP:0000932	Abnormal posterior cranial fossa morphology	4853	NOTCH2	OMIM:102500
HP:0000932	Abnormal posterior cranial fossa morphology	26137	ZBTB20	OMIM:259050
HP:0000932	Abnormal posterior cranial fossa morphology	1277	COL1A1	OMIM:259420
HP:0000932	Abnormal posterior cranial fossa morphology	1278	COL1A2	OMIM:259420
HP:0000932	Abnormal posterior cranial fossa morphology	9897	WASHC5	OMIM:220210
HP:0000932	Abnormal posterior cranial fossa morphology	2073	ERCC5	OMIM:616570
HP:0000932	Abnormal posterior cranial fossa morphology	30813	VSX1	OMIM:614195
HP:0000932	Abnormal posterior cranial fossa morphology	392255	GDF6	OMIM:118100
HP:0000932	Abnormal posterior cranial fossa morphology	5159	PDGFRB	OMIM:601812
HP:0000932	Abnormal posterior cranial fossa morphology	18	ABAT	OMIM:613163
HP:0000932	Abnormal posterior cranial fossa morphology	727676	SNORD118	ORPHA:542310
HP:0000932	Abnormal posterior cranial fossa morphology	1801	DPH1	ORPHA:459061
HP:0000932	Abnormal posterior cranial fossa morphology	29954	POMT2	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	9215	LARGE1	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	79147	FKRP	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	2218	FKTN	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	2263	FGFR2	OMIM:101200
HP:0000932	Abnormal posterior cranial fossa morphology	22943	DKK1	ORPHA:268882
HP:0000932	Abnormal posterior cranial fossa morphology	2316	FLNA	OMIM:304120
HP:0000932	Abnormal posterior cranial fossa morphology	57688	ZSWIM6	OMIM:603671
HP:0000932	Abnormal posterior cranial fossa morphology	126792	B3GALT6	ORPHA:536467
HP:0000932	Abnormal posterior cranial fossa morphology	55719	SLF2	OMIM:620184
HP:0000932	Abnormal posterior cranial fossa morphology	4617	MYF5	OMIM:618155
HP:0000932	Abnormal posterior cranial fossa morphology	22827	PUF60	ORPHA:508498
HP:0000932	Abnormal posterior cranial fossa morphology	8496	PPFIBP1	OMIM:620024
HP:0000932	Abnormal posterior cranial fossa morphology	80199	FUZ	ORPHA:1136
HP:0000932	Abnormal posterior cranial fossa morphology	4361	MRE11	ORPHA:251347
HP:0000932	Abnormal posterior cranial fossa morphology	129685	TAF8	OMIM:619972
HP:0000932	Abnormal posterior cranial fossa morphology	6658	SOX3	ORPHA:67045
HP:0000934	Chondrocalcinosis	538	ATP7A	ORPHA:565
HP:0000934	Chondrocalcinosis	6557	SLC12A1	OMIM:601678
HP:0000934	Chondrocalcinosis	79577	CDC73	ORPHA:143
HP:0000934	Chondrocalcinosis	79577	CDC73	ORPHA:99880
HP:0000934	Chondrocalcinosis	79577	CDC73	ORPHA:99879
HP:0000934	Chondrocalcinosis	4854	NOTCH3	ORPHA:2591
HP:0000934	Chondrocalcinosis	5159	PDGFRB	ORPHA:2591
HP:0000934	Chondrocalcinosis	1175	AP2S1	OMIM:600740
HP:0000934	Chondrocalcinosis	486	FXYD2	OMIM:154020
HP:0000934	Chondrocalcinosis	3758	KCNJ1	OMIM:241200
HP:0000934	Chondrocalcinosis	4210	MEFV	ORPHA:329967
HP:0000934	Chondrocalcinosis	7132	TNFRSF1A	ORPHA:329967
HP:0000934	Chondrocalcinosis	249	ALPL	OMIM:146300
HP:0000934	Chondrocalcinosis	2767	GNA11	OMIM:145981
HP:0000934	Chondrocalcinosis	6559	SLC12A3	OMIM:263800
HP:0000934	Chondrocalcinosis	6559	SLC12A3	ORPHA:358
HP:0000934	Chondrocalcinosis	4221	MEN1	ORPHA:99879
HP:0000934	Chondrocalcinosis	9247	GCM2	ORPHA:99879
HP:0000934	Chondrocalcinosis	4000	LMNA	ORPHA:79474
HP:0000934	Chondrocalcinosis	540	ATP7B	OMIM:277900
HP:0000934	Chondrocalcinosis	7486	WRN	ORPHA:902
HP:0000934	Chondrocalcinosis	1188	CLCNKB	ORPHA:358
HP:0000934	Chondrocalcinosis	4982	TNFRSF11B	ORPHA:1416
HP:0000934	Chondrocalcinosis	3373	HYAL1	OMIM:601492
HP:0000934	Chondrocalcinosis	56172	ANKH	OMIM:118600
HP:0000935	Thickened cortex of long bones	203859	ANO5	ORPHA:53697
HP:0000935	Thickened cortex of long bones	3977	LIFR	ORPHA:3206
HP:0000935	Thickened cortex of long bones	3977	LIFR	OMIM:601559
HP:0000935	Thickened cortex of long bones	4591	TRIM37	OMIM:253250
HP:0000935	Thickened cortex of long bones	4041	LRP5	OMIM:607634
HP:0000935	Thickened cortex of long bones	4041	LRP5	OMIM:144750
HP:0000935	Thickened cortex of long bones	63901	FAM111A	OMIM:127000
HP:0000935	Thickened cortex of long bones	26040	SETBP1	OMIM:269150
HP:0000935	Thickened cortex of long bones	4763	NF1	ORPHA:97685
HP:0000935	Thickened cortex of long bones	4125	MAN2B1	ORPHA:309282
HP:0000935	Thickened cortex of long bones	1277	COL1A1	ORPHA:1310
HP:0000935	Thickened cortex of long bones	6905	TBCE	ORPHA:93324
HP:0000935	Thickened cortex of long bones	7040	TGFB1	ORPHA:1328
HP:0000935	Thickened cortex of long bones	7040	TGFB1	OMIM:131300
HP:0000935	Thickened cortex of long bones	50964	SOST	OMIM:269500
HP:0005930	Abnormal epiphysis morphology	50628	GEMIN4	OMIM:617913
HP:0005930	Abnormal epiphysis morphology	64131	XYLT1	OMIM:615777
HP:0005930	Abnormal epiphysis morphology	55858	TMEM165	OMIM:614727
HP:0005930	Abnormal epiphysis morphology	411	ARSB	OMIM:253200
HP:0005930	Abnormal epiphysis morphology	3313	HSPA9	OMIM:616854
HP:0005930	Abnormal epiphysis morphology	1806	DPYD	ORPHA:1675
HP:0005930	Abnormal epiphysis morphology	4882	NPR2	OMIM:615923
HP:0005930	Abnormal epiphysis morphology	1028	CDKN1C	OMIM:614732
HP:0005930	Abnormal epiphysis morphology	2799	GNS	OMIM:252940
HP:0005930	Abnormal epiphysis morphology	65992	DDRGK1	OMIM:602557
HP:0005930	Abnormal epiphysis morphology	65992	DDRGK1	ORPHA:93352
HP:0005930	Abnormal epiphysis morphology	55699	IARS2	OMIM:616007
HP:0005930	Abnormal epiphysis morphology	23761	PISD	OMIM:618889
HP:0005930	Abnormal epiphysis morphology	2099	ESR1	ORPHA:785
HP:0005930	Abnormal epiphysis morphology	51025	PAM16	OMIM:613320
HP:0005930	Abnormal epiphysis morphology	406932	MIR140	OMIM:618618
HP:0005930	Abnormal epiphysis morphology	6662	SOX9	OMIM:114290
HP:0005930	Abnormal epiphysis morphology	2263	FGFR2	OMIM:101200
HP:0005930	Abnormal epiphysis morphology	1588	CYP19A1	ORPHA:91
HP:0005930	Abnormal epiphysis morphology	7421	VDR	OMIM:277440
HP:0005930	Abnormal epiphysis morphology	120227	CYP2R1	OMIM:600081
HP:0005930	Abnormal epiphysis morphology	1594	CYP27B1	OMIM:264700
HP:0005930	Abnormal epiphysis morphology	1184	CLCN5	OMIM:300554
HP:0005930	Abnormal epiphysis morphology	1184	CLCN5	OMIM:300009
HP:0005930	Abnormal epiphysis morphology	142680	SLC34A3	OMIM:241530
HP:0005930	Abnormal epiphysis morphology	2720	GLB1	OMIM:253010
HP:0005930	Abnormal epiphysis morphology	2588	GALNS	OMIM:253000
HP:0005930	Abnormal epiphysis morphology	5745	PTH1R	OMIM:600002
HP:0005930	Abnormal epiphysis morphology	4322	MMP13	OMIM:602111
HP:0005930	Abnormal epiphysis morphology	4322	MMP13	ORPHA:93356
HP:0005930	Abnormal epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0005930	Abnormal epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0005930	Abnormal epiphysis morphology	3835	KIF22	OMIM:603546
HP:0005930	Abnormal epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0005930	Abnormal epiphysis morphology	1836	SLC26A2	OMIM:222600
HP:0005930	Abnormal epiphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0005930	Abnormal epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0005930	Abnormal epiphysis morphology	83452	RAB33B	OMIM:615222
HP:0005930	Abnormal epiphysis morphology	84068	SLC10A7	OMIM:618363
HP:0005930	Abnormal epiphysis morphology	8838	CCN6	OMIM:208230
HP:0005930	Abnormal epiphysis morphology	9469	CHST3	OMIM:143095
HP:0005930	Abnormal epiphysis morphology	374654	KIF7	OMIM:607131
HP:0005930	Abnormal epiphysis morphology	124583	CANT1	OMIM:251450
HP:0005930	Abnormal epiphysis morphology	55764	IFT122	OMIM:218330
HP:0005930	Abnormal epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0005930	Abnormal epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0005930	Abnormal epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0005930	Abnormal epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0005930	Abnormal epiphysis morphology	50485	SMARCAL1	OMIM:242900
HP:0005930	Abnormal epiphysis morphology	9382	COG1	OMIM:611209
HP:0005930	Abnormal epiphysis morphology	990	CDC6	OMIM:613805
HP:0005930	Abnormal epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0005930	Abnormal epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0005930	Abnormal epiphysis morphology	176	ACAN	OMIM:608361
HP:0005930	Abnormal epiphysis morphology	9496	TBX4	OMIM:147891
HP:0005930	Abnormal epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0005930	Abnormal epiphysis morphology	2317	FLNB	ORPHA:56305
HP:0005930	Abnormal epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0005930	Abnormal epiphysis morphology	6628	SNRPB	OMIM:117650
HP:0005930	Abnormal epiphysis morphology	415	ARSL	ORPHA:79345
HP:0005930	Abnormal epiphysis morphology	633	BGN	OMIM:300106
HP:0005930	Abnormal epiphysis morphology	54808	DYM	OMIM:223800
HP:0005930	Abnormal epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0005930	Abnormal epiphysis morphology	1298	COL9A2	OMIM:600204
HP:0005930	Abnormal epiphysis morphology	538	ATP7A	ORPHA:198
HP:0005930	Abnormal epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0005930	Abnormal epiphysis morphology	26277	TINF2	OMIM:613990
HP:0005930	Abnormal epiphysis morphology	91754	NEK9	OMIM:614262
HP:0005930	Abnormal epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0005930	Abnormal epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0005930	Abnormal epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0005930	Abnormal epiphysis morphology	2335	FN1	ORPHA:93315
HP:0005930	Abnormal epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0005930	Abnormal epiphysis morphology	9719	ADAMTSL2	ORPHA:1901
HP:0005930	Abnormal epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0005930	Abnormal epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0005930	Abnormal epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0005930	Abnormal epiphysis morphology	2131	EXT1	ORPHA:502
HP:0005930	Abnormal epiphysis morphology	7227	TRPS1	ORPHA:502
HP:0005930	Abnormal epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0005930	Abnormal epiphysis morphology	7227	TRPS1	OMIM:190351
HP:0005930	Abnormal epiphysis morphology	7227	TRPS1	ORPHA:77258
HP:0005930	Abnormal epiphysis morphology	55325	UFSP2	OMIM:142669
HP:0005930	Abnormal epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0005930	Abnormal epiphysis morphology	59341	TRPV4	OMIM:617383
HP:0005930	Abnormal epiphysis morphology	1311	COMP	OMIM:132400
HP:0005930	Abnormal epiphysis morphology	1311	COMP	ORPHA:93308
HP:0005930	Abnormal epiphysis morphology	2033	EP300	ORPHA:353284
HP:0005930	Abnormal epiphysis morphology	10847	SRCAP	ORPHA:2044
HP:0005930	Abnormal epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0005930	Abnormal epiphysis morphology	64374	SIL1	ORPHA:559
HP:0005930	Abnormal epiphysis morphology	51763	INPP5K	ORPHA:559
HP:0005930	Abnormal epiphysis morphology	1278	COL1A2	ORPHA:1899
HP:0005930	Abnormal epiphysis morphology	1277	COL1A1	ORPHA:1899
HP:0005930	Abnormal epiphysis morphology	10682	EBP	ORPHA:35173
HP:0005930	Abnormal epiphysis morphology	5573	PRKAR1A	OMIM:101800
HP:0005930	Abnormal epiphysis morphology	5447	POR	ORPHA:95699
HP:0005930	Abnormal epiphysis morphology	5251	PHEX	ORPHA:89936
HP:0005930	Abnormal epiphysis morphology	4318	MMP9	ORPHA:1040
HP:0005930	Abnormal epiphysis morphology	64840	PORCN	ORPHA:2092
HP:0005930	Abnormal epiphysis morphology	23233	EXOC6B	ORPHA:93359
HP:0005930	Abnormal epiphysis morphology	5781	PTPN11	ORPHA:2499
HP:0005930	Abnormal epiphysis morphology	7305	TYROBP	ORPHA:2770
HP:0005930	Abnormal epiphysis morphology	54209	TREM2	ORPHA:2770
HP:0005930	Abnormal epiphysis morphology	3425	IDUA	ORPHA:93473
HP:0005930	Abnormal epiphysis morphology	9935	MAFB	ORPHA:2774
HP:0005930	Abnormal epiphysis morphology	10312	TCIRG1	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	1186	CLCN7	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	1186	CLCN7	ORPHA:53
HP:0005930	Abnormal epiphysis morphology	29887	SNX10	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	8600	TNFSF11	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	6595	SMARCA2	ORPHA:3051
HP:0005930	Abnormal epiphysis morphology	5130	PCYT1A	ORPHA:85167
HP:0005930	Abnormal epiphysis morphology	4952	OCRL	ORPHA:534
HP:0005930	Abnormal epiphysis morphology	11107	PRDM5	ORPHA:90354
HP:0005930	Abnormal epiphysis morphology	84627	ZNF469	ORPHA:90354
HP:0005930	Abnormal epiphysis morphology	64327	LMBR1	ORPHA:931
HP:0005930	Abnormal epiphysis morphology	6335	SCN9A	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	65125	WNK1	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	54463	RETREG1	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	547	KIF1A	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	5264	PHYH	ORPHA:773
HP:0005930	Abnormal epiphysis morphology	6023	RMRP	ORPHA:175
HP:0005930	Abnormal epiphysis morphology	23483	TGDS	ORPHA:1388
HP:0005930	Abnormal epiphysis morphology	92344	GORAB	ORPHA:2078
HP:0005930	Abnormal epiphysis morphology	5831	PYCR1	ORPHA:2078
HP:0005930	Abnormal epiphysis morphology	2200	FBN1	ORPHA:969
HP:0005930	Abnormal epiphysis morphology	4054	LTBP3	ORPHA:969
HP:0005930	Abnormal epiphysis morphology	23592	LEMD3	ORPHA:1306
HP:0005930	Abnormal epiphysis morphology	3248	HPGD	ORPHA:2796
HP:0005930	Abnormal epiphysis morphology	6578	SLCO2A1	ORPHA:2796
HP:0005930	Abnormal epiphysis morphology	81620	CDT1	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	5000	ORC4	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	23594	ORC6	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	8318	CDC45	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	4998	ORC1	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	51053	GMNN	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	6473	SHOX	ORPHA:2632
HP:0005930	Abnormal epiphysis morphology	6473	SHOX	ORPHA:240
HP:0005930	Abnormal epiphysis morphology	3636	INPPL1	ORPHA:2746
HP:0005930	Abnormal epiphysis morphology	860	RUNX2	ORPHA:1452
HP:0005930	Abnormal epiphysis morphology	84695	LOXL3	ORPHA:250984
HP:0005930	Abnormal epiphysis morphology	9487	PIGL	ORPHA:3474
HP:0005930	Abnormal epiphysis morphology	9361	LONP1	ORPHA:1458
HP:0005930	Abnormal epiphysis morphology	4089	SMAD4	ORPHA:2588
HP:0005930	Abnormal epiphysis morphology	2121	EVC	OMIM:225500
HP:0005930	Abnormal epiphysis morphology	132884	EVC2	OMIM:225500
HP:0005930	Abnormal epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005930	Abnormal epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005930	Abnormal epiphysis morphology	3549	IHH	OMIM:112500
HP:0005930	Abnormal epiphysis morphology	6137	RPL13	OMIM:618728
HP:0005930	Abnormal epiphysis morphology	64135	IFIH1	OMIM:182250
HP:0005930	Abnormal epiphysis morphology	1297	COL9A1	OMIM:614135
HP:0005930	Abnormal epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0005930	Abnormal epiphysis morphology	89970	RSPRY1	OMIM:616723
HP:0005930	Abnormal epiphysis morphology	5979	RET	OMIM:162300
HP:0005930	Abnormal epiphysis morphology	2972	BRF1	OMIM:616202
HP:0005930	Abnormal epiphysis morphology	51119	SBDS	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	51119	SBDS	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	6729	SRP54	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	6729	SRP54	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	79631	EFL1	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	3339	HSPG2	OMIM:255800
HP:0005930	Abnormal epiphysis morphology	1280	COL2A1	ORPHA:166011
HP:0005930	Abnormal epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0005930	Abnormal epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0005930	Abnormal epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	7038	TG	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	7173	TPO	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	389434	IYD	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0005930	Abnormal epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0005930	Abnormal epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0005930	Abnormal epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0005930	Abnormal epiphysis morphology	8443	GNPAT	OMIM:222765
HP:0005930	Abnormal epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005930	Abnormal epiphysis morphology	25839	COG4	OMIM:618150
HP:0005930	Abnormal epiphysis morphology	5116	PCNT	OMIM:210720
HP:0005930	Abnormal epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005930	Abnormal epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	8200	GDF5	OMIM:113100
HP:0005930	Abnormal epiphysis morphology	658	BMPR1B	ORPHA:93384
HP:0005930	Abnormal epiphysis morphology	3756	KCNH1	OMIM:611816
HP:0005930	Abnormal epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0005930	Abnormal epiphysis morphology	26160	IFT172	OMIM:615630
HP:0005930	Abnormal epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0005930	Abnormal epiphysis morphology	375056	MIA3	OMIM:619269
HP:0005930	Abnormal epiphysis morphology	51098	IFT52	OMIM:617102
HP:0005930	Abnormal epiphysis morphology	2261	FGFR3	OMIM:602849
HP:0005930	Abnormal epiphysis morphology	2316	FLNA	OMIM:309350
HP:0005930	Abnormal epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0005930	Abnormal epiphysis morphology	545	ATR	OMIM:210600
HP:0005930	Abnormal epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0005930	Abnormal epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0005930	Abnormal epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0005930	Abnormal epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005930	Abnormal epiphysis morphology	51715	RAB23	OMIM:201000
HP:0005930	Abnormal epiphysis morphology	60561	RINT1	OMIM:618641
HP:0005930	Abnormal epiphysis morphology	55112	DYNC2I1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	153241	CEP120	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	57560	IFT80	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	51626	DYNC2LI1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	51626	DYNC2LI1	OMIM:617088
HP:0005930	Abnormal epiphysis morphology	79659	DYNC2H1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	79659	DYNC2H1	OMIM:613091
HP:0005930	Abnormal epiphysis morphology	57728	WDR19	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	57728	WDR19	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	89891	DYNC2I2	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	79809	TTC21B	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	286053	NSMCE2	OMIM:617253
HP:0005930	Abnormal epiphysis morphology	1062	CENPE	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	5932	RBBP8	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	79902	NUP85	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	84126	ATRIP	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	55835	CENPJ	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	10293	TRAIP	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	22995	CEP152	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	10733	PLK4	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	8481	OFD1	ORPHA:2750
HP:0005930	Abnormal epiphysis morphology	5293	PIK3CD	ORPHA:221139
HP:0005930	Abnormal epiphysis morphology	5293	PIK3CD	OMIM:613328
HP:0005930	Abnormal epiphysis morphology	90417	KNSTRN	ORPHA:221139
HP:0005930	Abnormal epiphysis morphology	90417	KNSTRN	OMIM:613328
HP:0005930	Abnormal epiphysis morphology	5139	PDE3A	OMIM:112410
HP:0005930	Abnormal epiphysis morphology	9578	CDC42BPB	OMIM:619841
HP:0005930	Abnormal epiphysis morphology	6885	MAP3K7	OMIM:157800
HP:0005930	Abnormal epiphysis morphology	57178	ZMIZ1	OMIM:618659
HP:0005930	Abnormal epiphysis morphology	25886	POC1A	OMIM:614813
HP:0005930	Abnormal epiphysis morphology	26146	TRAF3IP1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	9657	IQCB1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	10806	SDCCAG8	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	27130	INVS	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	80184	CEP290	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	4867	NPHP1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	261734	NPHP4	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	27031	NPHP3	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	22897	CEP164	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	9241	NOG	ORPHA:3237
HP:0005930	Abnormal epiphysis morphology	2254	FGF9	ORPHA:3237
HP:0005930	Abnormal epiphysis morphology	5295	PIK3R1	OMIM:269880
HP:0005930	Abnormal epiphysis morphology	150468	CKAP2L	ORPHA:3255
HP:0005930	Abnormal epiphysis morphology	64802	NMNAT1	OMIM:619260
HP:0005930	Abnormal epiphysis morphology	23387	SIK3	OMIM:618162
HP:0005930	Abnormal epiphysis morphology	3209	HOXA13	OMIM:140000
HP:0005930	Abnormal epiphysis morphology	54187	NANS	OMIM:610442
HP:0005930	Abnormal epiphysis morphology	347734	SLC35B2	OMIM:620269
HP:0005930	Abnormal epiphysis morphology	9321	TRIP11	OMIM:184260
HP:0005930	Abnormal epiphysis morphology	91147	TMEM67	ORPHA:140976
HP:0005930	Abnormal epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005930	Abnormal epiphysis morphology	3930	LBR	OMIM:215140
HP:0005930	Abnormal epiphysis morphology	5144	PDE4D	ORPHA:950
HP:0005930	Abnormal epiphysis morphology	4921	DDR2	OMIM:271665
HP:0005930	Abnormal epiphysis morphology	57020	VPS35L	OMIM:619135
HP:0005930	Abnormal epiphysis morphology	4256	MGP	OMIM:245150
HP:0005930	Abnormal epiphysis morphology	2677	GGCX	OMIM:277450
HP:0005930	Abnormal epiphysis morphology	5190	PEX6	OMIM:614862
HP:0005930	Abnormal epiphysis morphology	5190	PEX6	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	50814	NSDHL	OMIM:308050
HP:0005930	Abnormal epiphysis morphology	8504	PEX3	OMIM:614882
HP:0005930	Abnormal epiphysis morphology	8504	PEX3	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5828	PEX2	OMIM:614866
HP:0005930	Abnormal epiphysis morphology	5828	PEX2	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	7068	THRB	OMIM:274300
HP:0005930	Abnormal epiphysis morphology	4758	NEU1	OMIM:256550
HP:0005930	Abnormal epiphysis morphology	5191	PEX7	OMIM:215100
HP:0005930	Abnormal epiphysis morphology	2990	GUSB	ORPHA:584
HP:0005930	Abnormal epiphysis morphology	1717	DHCR7	OMIM:270400
HP:0005930	Abnormal epiphysis morphology	8540	AGPS	OMIM:600121
HP:0005930	Abnormal epiphysis morphology	5189	PEX1	OMIM:601539
HP:0005930	Abnormal epiphysis morphology	5189	PEX1	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5189	PEX1	OMIM:214100
HP:0005930	Abnormal epiphysis morphology	5192	PEX10	OMIM:614870
HP:0005930	Abnormal epiphysis morphology	5192	PEX10	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	55670	PEX26	OMIM:614872
HP:0005930	Abnormal epiphysis morphology	55670	PEX26	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	9409	PEX16	OMIM:614876
HP:0005930	Abnormal epiphysis morphology	9409	PEX16	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5193	PEX12	OMIM:614859
HP:0005930	Abnormal epiphysis morphology	5193	PEX12	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5824	PEX19	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	8799	PEX11B	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5830	PEX5	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5194	PEX13	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	5195	PEX14	ORPHA:912
HP:0005930	Abnormal epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0005930	Abnormal epiphysis morphology	388015	RTL1	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	8788	DLK1	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	55384	MEG3	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	9742	IFT140	OMIM:266920
HP:0005930	Abnormal epiphysis morphology	23102	TBC1D2B	ORPHA:397973
HP:0010579	Cone-shaped epiphysis	633	BGN	OMIM:300106
HP:0010579	Cone-shaped epiphysis	2121	EVC	OMIM:225500
HP:0010579	Cone-shaped epiphysis	132884	EVC2	OMIM:225500
HP:0010579	Cone-shaped epiphysis	9131	AIFM1	OMIM:300232
HP:0010579	Cone-shaped epiphysis	54808	DYM	OMIM:223800
HP:0010579	Cone-shaped epiphysis	1280	COL2A1	OMIM:271700
HP:0010579	Cone-shaped epiphysis	59341	TRPV4	OMIM:184252
HP:0010579	Cone-shaped epiphysis	4882	NPR2	OMIM:602875
HP:0010579	Cone-shaped epiphysis	56992	KIF15	ORPHA:261323
HP:0010579	Cone-shaped epiphysis	26160	IFT172	OMIM:615630
HP:0010579	Cone-shaped epiphysis	4750	NEK1	ORPHA:2751
HP:0010579	Cone-shaped epiphysis	2131	EXT1	ORPHA:502
HP:0010579	Cone-shaped epiphysis	25839	COG4	OMIM:618150
HP:0010579	Cone-shaped epiphysis	25839	COG4	ORPHA:85172
HP:0010579	Cone-shaped epiphysis	10847	SRCAP	OMIM:136140
HP:0010579	Cone-shaped epiphysis	3549	IHH	OMIM:607778
HP:0010579	Cone-shaped epiphysis	9742	IFT140	OMIM:617781
HP:0010579	Cone-shaped epiphysis	9742	IFT140	OMIM:266920
HP:0010579	Cone-shaped epiphysis	860	RUNX2	OMIM:119600
HP:0010579	Cone-shaped epiphysis	9321	TRIP11	OMIM:184260
HP:0010579	Cone-shaped epiphysis	375056	MIA3	OMIM:619269
HP:0010579	Cone-shaped epiphysis	9451	EIF2AK3	OMIM:226980
HP:0010579	Cone-shaped epiphysis	51098	IFT52	OMIM:617102
HP:0010579	Cone-shaped epiphysis	2261	FGFR3	OMIM:602849
HP:0010579	Cone-shaped epiphysis	2316	FLNA	OMIM:309350
HP:0010579	Cone-shaped epiphysis	2316	FLNA	ORPHA:2484
HP:0010579	Cone-shaped epiphysis	545	ATR	OMIM:210600
HP:0010579	Cone-shaped epiphysis	5573	PRKAR1A	OMIM:101800
HP:0010579	Cone-shaped epiphysis	6023	RMRP	OMIM:250460
HP:0010579	Cone-shaped epiphysis	2879	GPX4	OMIM:250220
HP:0010579	Cone-shaped epiphysis	28957	MRPS28	OMIM:618958
HP:0010579	Cone-shaped epiphysis	7227	TRPS1	OMIM:190350
HP:0010579	Cone-shaped epiphysis	1311	COMP	ORPHA:750
HP:0010579	Cone-shaped epiphysis	55112	DYNC2I1	ORPHA:474
HP:0010579	Cone-shaped epiphysis	153241	CEP120	ORPHA:474
HP:0010579	Cone-shaped epiphysis	57560	IFT80	ORPHA:474
HP:0010579	Cone-shaped epiphysis	51626	DYNC2LI1	ORPHA:474
HP:0010579	Cone-shaped epiphysis	51626	DYNC2LI1	OMIM:617088
HP:0010579	Cone-shaped epiphysis	79659	DYNC2H1	ORPHA:474
HP:0010579	Cone-shaped epiphysis	79659	DYNC2H1	OMIM:613091
HP:0010579	Cone-shaped epiphysis	57728	WDR19	ORPHA:474
HP:0010579	Cone-shaped epiphysis	57728	WDR19	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	89891	DYNC2I2	ORPHA:474
HP:0010579	Cone-shaped epiphysis	79809	TTC21B	ORPHA:474
HP:0010579	Cone-shaped epiphysis	5144	PDE4D	ORPHA:950
HP:0010579	Cone-shaped epiphysis	5144	PDE4D	ORPHA:280651
HP:0010579	Cone-shaped epiphysis	5144	PDE4D	ORPHA:439822
HP:0010579	Cone-shaped epiphysis	5144	PDE4D	OMIM:614613
HP:0010579	Cone-shaped epiphysis	286053	NSMCE2	OMIM:617253
HP:0010579	Cone-shaped epiphysis	2200	FBN1	OMIM:614185
HP:0010579	Cone-shaped epiphysis	2200	FBN1	OMIM:102370
HP:0010579	Cone-shaped epiphysis	89970	RSPRY1	ORPHA:457395
HP:0010579	Cone-shaped epiphysis	1062	CENPE	ORPHA:808
HP:0010579	Cone-shaped epiphysis	5116	PCNT	ORPHA:808
HP:0010579	Cone-shaped epiphysis	5116	PCNT	OMIM:210720
HP:0010579	Cone-shaped epiphysis	5932	RBBP8	ORPHA:808
HP:0010579	Cone-shaped epiphysis	79902	NUP85	ORPHA:808
HP:0010579	Cone-shaped epiphysis	84126	ATRIP	ORPHA:808
HP:0010579	Cone-shaped epiphysis	55835	CENPJ	ORPHA:808
HP:0010579	Cone-shaped epiphysis	10293	TRAIP	ORPHA:808
HP:0010579	Cone-shaped epiphysis	22995	CEP152	ORPHA:808
HP:0010579	Cone-shaped epiphysis	10733	PLK4	ORPHA:808
HP:0010579	Cone-shaped epiphysis	8481	OFD1	ORPHA:2750
HP:0010579	Cone-shaped epiphysis	5293	PIK3CD	ORPHA:221139
HP:0010579	Cone-shaped epiphysis	5293	PIK3CD	OMIM:613328
HP:0010579	Cone-shaped epiphysis	90417	KNSTRN	ORPHA:221139
HP:0010579	Cone-shaped epiphysis	90417	KNSTRN	OMIM:613328
HP:0010579	Cone-shaped epiphysis	5139	PDE3A	OMIM:112410
HP:0010579	Cone-shaped epiphysis	79848	CSPP1	ORPHA:397715
HP:0010579	Cone-shaped epiphysis	9786	KIAA0586	ORPHA:397715
HP:0010579	Cone-shaped epiphysis	6473	SHOX	ORPHA:240
HP:0010579	Cone-shaped epiphysis	4089	SMAD4	OMIM:139210
HP:0010579	Cone-shaped epiphysis	9578	CDC42BPB	OMIM:619841
HP:0010579	Cone-shaped epiphysis	6885	MAP3K7	OMIM:157800
HP:0010579	Cone-shaped epiphysis	57178	ZMIZ1	OMIM:618659
HP:0010579	Cone-shaped epiphysis	406932	MIR140	OMIM:618618
HP:0010579	Cone-shaped epiphysis	8200	GDF5	ORPHA:93384
HP:0010579	Cone-shaped epiphysis	8200	GDF5	ORPHA:93388
HP:0010579	Cone-shaped epiphysis	8200	GDF5	ORPHA:3237
HP:0010579	Cone-shaped epiphysis	658	BMPR1B	ORPHA:93384
HP:0010579	Cone-shaped epiphysis	658	BMPR1B	ORPHA:93388
HP:0010579	Cone-shaped epiphysis	25886	POC1A	OMIM:614813
HP:0010579	Cone-shaped epiphysis	26146	TRAF3IP1	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	9657	IQCB1	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	10806	SDCCAG8	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	27130	INVS	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	80184	CEP290	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	4867	NPHP1	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	261734	NPHP4	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	27031	NPHP3	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	22897	CEP164	ORPHA:3156
HP:0010579	Cone-shaped epiphysis	9241	NOG	ORPHA:3237
HP:0010579	Cone-shaped epiphysis	2254	FGF9	ORPHA:3237
HP:0010579	Cone-shaped epiphysis	23102	TBC1D2B	ORPHA:397973
HP:0000938	Osteopenia	55503	TRPV6	OMIM:618188
HP:0000938	Osteopenia	8425	LTBP4	OMIM:613177
HP:0000938	Osteopenia	51126	NAA20	OMIM:619717
HP:0000938	Osteopenia	6938	TCF12	OMIM:619718
HP:0000938	Osteopenia	7355	SLC35A2	ORPHA:356961
HP:0000938	Osteopenia	673	BRAF	OMIM:115150
HP:0000938	Osteopenia	118429	ANTXR2	ORPHA:2176
HP:0000938	Osteopenia	118429	ANTXR2	OMIM:228600
HP:0000938	Osteopenia	126792	B3GALT6	OMIM:609465
HP:0000938	Osteopenia	126792	B3GALT6	ORPHA:536467
HP:0000938	Osteopenia	126792	B3GALT6	OMIM:615349
HP:0000938	Osteopenia	91147	TMEM67	OMIM:602152
HP:0000938	Osteopenia	91147	TMEM67	ORPHA:140976
HP:0000938	Osteopenia	5352	PLOD2	OMIM:609220
HP:0000938	Osteopenia	3190	HNRNPK	ORPHA:453504
HP:0000938	Osteopenia	3190	HNRNPK	ORPHA:352665
HP:0000938	Osteopenia	54209	TREM2	OMIM:618193
HP:0000938	Osteopenia	4125	MAN2B1	ORPHA:309282
HP:0000938	Osteopenia	4125	MAN2B1	ORPHA:309288
HP:0000938	Osteopenia	4312	MMP1	ORPHA:79408
HP:0000938	Osteopenia	1294	COL7A1	ORPHA:79408
HP:0000938	Osteopenia	8443	GNPAT	OMIM:222765
HP:0000938	Osteopenia	2099	ESR1	OMIM:615363
HP:0000938	Osteopenia	2099	ESR1	ORPHA:785
HP:0000938	Osteopenia	4221	MEN1	ORPHA:2965
HP:0000938	Osteopenia	4221	MEN1	ORPHA:99879
HP:0000938	Osteopenia	64072	CDH23	ORPHA:2965
HP:0000938	Osteopenia	64072	CDH23	ORPHA:91347
HP:0000938	Osteopenia	9049	AIP	ORPHA:2965
HP:0000938	Osteopenia	2201	FBN2	OMIM:121050
HP:0000938	Osteopenia	50940	PDE11A	OMIM:610475
HP:0000938	Osteopenia	4882	NPR2	OMIM:615923
HP:0000938	Osteopenia	4000	LMNA	OMIM:248370
HP:0000938	Osteopenia	4000	LMNA	OMIM:212112
HP:0000938	Osteopenia	4000	LMNA	ORPHA:1662
HP:0000938	Osteopenia	84634	KISS1R	OMIM:614837
HP:0000938	Osteopenia	84634	KISS1R	ORPHA:432
HP:0000938	Osteopenia	79158	GNPTAB	OMIM:252500
HP:0000938	Osteopenia	9382	COG1	OMIM:611209
HP:0000938	Osteopenia	9382	COG1	ORPHA:263508
HP:0000938	Osteopenia	134218	DNAJC21	ORPHA:811
HP:0000938	Osteopenia	79631	EFL1	ORPHA:811
HP:0000938	Osteopenia	51119	SBDS	ORPHA:811
HP:0000938	Osteopenia	6729	SRP54	ORPHA:811
HP:0000938	Osteopenia	6729	SRP54	ORPHA:486
HP:0000938	Osteopenia	64175	P3H1	OMIM:610915
HP:0000938	Osteopenia	7125	TNNC2	OMIM:620161
HP:0000938	Osteopenia	6772	STAT1	OMIM:614162
HP:0000938	Osteopenia	6772	STAT1	ORPHA:391487
HP:0000938	Osteopenia	2859	GPR35	ORPHA:171
HP:0000938	Osteopenia	10507	SEMA4D	ORPHA:171
HP:0000938	Osteopenia	4485	MST1	ORPHA:171
HP:0000938	Osteopenia	6925	TCF4	ORPHA:171
HP:0000938	Osteopenia	3899	AFF3	OMIM:619297
HP:0000938	Osteopenia	23545	ATP6V0A2	ORPHA:2834
HP:0000938	Osteopenia	23545	ATP6V0A2	OMIM:278250
HP:0000938	Osteopenia	4853	NOTCH2	OMIM:102500
HP:0000938	Osteopenia	4853	NOTCH2	ORPHA:955
HP:0000938	Osteopenia	90993	CREB3L1	OMIM:616229
HP:0000938	Osteopenia	5573	PRKAR1A	OMIM:610489
HP:0000938	Osteopenia	4313	MMP2	ORPHA:371428
HP:0000938	Osteopenia	4313	MMP2	OMIM:259600
HP:0000938	Osteopenia	4323	MMP14	ORPHA:371428
HP:0000938	Osteopenia	1277	COL1A1	ORPHA:287
HP:0000938	Osteopenia	1277	COL1A1	OMIM:130060
HP:0000938	Osteopenia	1277	COL1A1	OMIM:166200
HP:0000938	Osteopenia	1289	COL5A1	ORPHA:287
HP:0000938	Osteopenia	1290	COL5A2	ORPHA:287
HP:0000938	Osteopenia	10484	SEC23A	OMIM:607812
HP:0000938	Osteopenia	8726	EED	OMIM:617561
HP:0000938	Osteopenia	81848	SPRY4	OMIM:615266
HP:0000938	Osteopenia	81848	SPRY4	ORPHA:432
HP:0000938	Osteopenia	1848	DUSP6	OMIM:615269
HP:0000938	Osteopenia	1848	DUSP6	ORPHA:432
HP:0000938	Osteopenia	54756	IL17RD	OMIM:615267
HP:0000938	Osteopenia	1028	CDKN1C	OMIM:614732
HP:0000938	Osteopenia	8642	DCHS1	OMIM:601390
HP:0000938	Osteopenia	8642	DCHS1	ORPHA:314679
HP:0000938	Osteopenia	4247	MGAT2	OMIM:212066
HP:0000938	Osteopenia	4247	MGAT2	ORPHA:79329
HP:0000938	Osteopenia	165	AEBP1	ORPHA:536532
HP:0000938	Osteopenia	165	AEBP1	OMIM:618000
HP:0000938	Osteopenia	5373	PMM2	OMIM:212065
HP:0000938	Osteopenia	5373	PMM2	ORPHA:79318
HP:0000938	Osteopenia	1588	CYP19A1	ORPHA:91
HP:0000938	Osteopenia	1576	CYP3A4	OMIM:619073
HP:0000938	Osteopenia	9056	SLC7A7	ORPHA:470
HP:0000938	Osteopenia	11285	B4GALT7	OMIM:130070
HP:0000938	Osteopenia	11285	B4GALT7	ORPHA:75496
HP:0000938	Osteopenia	10043	TOM1	ORPHA:391487
HP:0000938	Osteopenia	8822	FGF17	OMIM:615270
HP:0000938	Osteopenia	8822	FGF17	ORPHA:432
HP:0000938	Osteopenia	595	CCND1	ORPHA:29073
HP:0000938	Osteopenia	5034	P4HB	OMIM:112240
HP:0000938	Osteopenia	23767	FLRT3	OMIM:615271
HP:0000938	Osteopenia	51604	PIGT	OMIM:615398
HP:0000938	Osteopenia	51604	PIGT	ORPHA:369837
HP:0000938	Osteopenia	5566	PRKACA	OMIM:615830
HP:0000938	Osteopenia	6135	RPL11	OMIM:612562
HP:0000938	Osteopenia	1593	CYP27A1	ORPHA:909
HP:0000938	Osteopenia	55699	IARS2	OMIM:616007
HP:0000938	Osteopenia	7015	TERT	OMIM:614742
HP:0000938	Osteopenia	8239	USP9X	ORPHA:480880
HP:0000938	Osteopenia	6804	STX1A	ORPHA:904
HP:0000938	Osteopenia	6804	STX1A	ORPHA:586
HP:0000938	Osteopenia	7461	CLIP2	ORPHA:904
HP:0000938	Osteopenia	84277	DNAJC30	ORPHA:904
HP:0000938	Osteopenia	8468	FKBP6	ORPHA:904
HP:0000938	Osteopenia	5982	RFC2	ORPHA:904
HP:0000938	Osteopenia	2969	GTF2I	ORPHA:904
HP:0000938	Osteopenia	3984	LIMK1	ORPHA:904
HP:0000938	Osteopenia	9569	GTF2IRD1	ORPHA:904
HP:0000938	Osteopenia	155382	VPS37D	ORPHA:904
HP:0000938	Osteopenia	155368	METTL27	ORPHA:904
HP:0000938	Osteopenia	114049	BUD23	ORPHA:904
HP:0000938	Osteopenia	7458	EIF4H	ORPHA:904
HP:0000938	Osteopenia	84163	GTF2IRD2	ORPHA:904
HP:0000938	Osteopenia	9275	BCL7B	ORPHA:904
HP:0000938	Osteopenia	26608	TBL2	ORPHA:904
HP:0000938	Osteopenia	653361	NCF1	ORPHA:904
HP:0000938	Osteopenia	135886	TMEM270	ORPHA:904
HP:0000938	Osteopenia	51085	MLXIPL	ORPHA:904
HP:0000938	Osteopenia	51085	MLXIPL	OMIM:194050
HP:0000938	Osteopenia	9031	BAZ1B	ORPHA:904
HP:0000938	Osteopenia	2006	ELN	ORPHA:904
HP:0000938	Osteopenia	2006	ELN	OMIM:194050
HP:0000938	Osteopenia	2006	ELN	ORPHA:90348
HP:0000938	Osteopenia	285175	UNC80	OMIM:616801
HP:0000938	Osteopenia	1650	DDOST	OMIM:614507
HP:0000938	Osteopenia	1650	DDOST	ORPHA:300536
HP:0000938	Osteopenia	10056	FARSB	OMIM:613658
HP:0000938	Osteopenia	80067	DCAF17	ORPHA:3464
HP:0000938	Osteopenia	9719	ADAMTSL2	OMIM:231050
HP:0000938	Osteopenia	9719	ADAMTSL2	ORPHA:1901
HP:0000938	Osteopenia	3845	KRAS	OMIM:163200
HP:0000938	Osteopenia	4893	NRAS	OMIM:163200
HP:0000938	Osteopenia	3265	HRAS	OMIM:163200
HP:0000938	Osteopenia	84992	PIGY	OMIM:616809
HP:0000938	Osteopenia	79759	ZNF668	OMIM:620194
HP:0000938	Osteopenia	2947	GSTM3	ORPHA:586
HP:0000938	Osteopenia	7040	TGFB1	ORPHA:586
HP:0000938	Osteopenia	2729	GCLC	ORPHA:586
HP:0000938	Osteopenia	1084	CEACAM3	ORPHA:586
HP:0000938	Osteopenia	6556	SLC11A1	ORPHA:586
HP:0000938	Osteopenia	51164	DCTN4	ORPHA:586
HP:0000938	Osteopenia	3783	KCNN4	ORPHA:586
HP:0000938	Osteopenia	4282	MIF	ORPHA:586
HP:0000938	Osteopenia	1909	EDNRA	ORPHA:586
HP:0000938	Osteopenia	6550	SLC9A3	ORPHA:586
HP:0000938	Osteopenia	3162	HMOX1	ORPHA:586
HP:0000938	Osteopenia	115019	SLC26A9	ORPHA:586
HP:0000938	Osteopenia	3077	HFE	ORPHA:586
HP:0000938	Osteopenia	11254	SLC6A14	ORPHA:586
HP:0000938	Osteopenia	5265	SERPINA1	ORPHA:586
HP:0000938	Osteopenia	1080	CFTR	ORPHA:586
HP:0000938	Osteopenia	22802	CLCA4	ORPHA:586
HP:0000938	Osteopenia	4680	CEACAM6	ORPHA:586
HP:0000938	Osteopenia	5626	PROP1	ORPHA:95494
HP:0000938	Osteopenia	5626	PROP1	ORPHA:90695
HP:0000938	Osteopenia	2736	GLI2	ORPHA:95494
HP:0000938	Osteopenia	89884	LHX4	ORPHA:95494
HP:0000938	Osteopenia	3170	FOXA2	ORPHA:95494
HP:0000938	Osteopenia	5449	POU1F1	ORPHA:95494
HP:0000938	Osteopenia	8820	HESX1	ORPHA:95494
HP:0000938	Osteopenia	5015	OTX2	ORPHA:95494
HP:0000938	Osteopenia	3043	HBB	ORPHA:231222
HP:0000938	Osteopenia	4041	LRP5	OMIM:601813
HP:0000938	Osteopenia	4041	LRP5	OMIM:259770
HP:0000938	Osteopenia	4041	LRP5	ORPHA:2788
HP:0000938	Osteopenia	79991	STN1	OMIM:617341
HP:0000938	Osteopenia	6774	STAT3	OMIM:147060
HP:0000938	Osteopenia	6774	STAT3	ORPHA:2314
HP:0000938	Osteopenia	9276	COPB2	OMIM:619884
HP:0000938	Osteopenia	8733	GPAA1	ORPHA:529665
HP:0000938	Osteopenia	8733	GPAA1	OMIM:617810
HP:0000938	Osteopenia	9247	GCM2	OMIM:617343
HP:0000938	Osteopenia	9247	GCM2	ORPHA:99879
HP:0000938	Osteopenia	79633	FAT4	ORPHA:314679
HP:0000938	Osteopenia	79633	FAT4	OMIM:615546
HP:0000938	Osteopenia	3911	LAMA5	OMIM:620076
HP:0000938	Osteopenia	11128	POLR3A	ORPHA:3455
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:98754
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:177904
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:177901
HP:0000938	Osteopenia	4692	NDN	ORPHA:98754
HP:0000938	Osteopenia	4692	NDN	ORPHA:177904
HP:0000938	Osteopenia	4692	NDN	ORPHA:177901
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:98754
HP:0000938	Osteopenia	54551	MAGEL2	OMIM:176270
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:177904
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:177901
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:398069
HP:0000938	Osteopenia	4948	OCA2	ORPHA:98754
HP:0000938	Osteopenia	4948	OCA2	ORPHA:177904
HP:0000938	Osteopenia	4948	OCA2	ORPHA:177901
HP:0000938	Osteopenia	23314	SATB2	ORPHA:576283
HP:0000938	Osteopenia	23314	SATB2	ORPHA:251028
HP:0000938	Osteopenia	3187	HNRNPH1	OMIM:620083
HP:0000938	Osteopenia	5618	PRLR	ORPHA:397685
HP:0000938	Osteopenia	54941	RNF125	OMIM:616260
HP:0000938	Osteopenia	79989	IFT56	OMIM:619534
HP:0000938	Osteopenia	9394	HS6ST1	OMIM:614880
HP:0000938	Osteopenia	9394	HS6ST1	ORPHA:432
HP:0000938	Osteopenia	6603	SMARCD2	OMIM:617475
HP:0000938	Osteopenia	3977	LIFR	ORPHA:3206
HP:0000938	Osteopenia	2260	FGFR1	OMIM:166250
HP:0000938	Osteopenia	2260	FGFR1	ORPHA:432
HP:0000938	Osteopenia	2260	FGFR1	OMIM:147950
HP:0000938	Osteopenia	10516	FBLN5	ORPHA:90348
HP:0000938	Osteopenia	5832	ALDH18A1	ORPHA:90348
HP:0000938	Osteopenia	5832	ALDH18A1	OMIM:616603
HP:0000938	Osteopenia	50628	GEMIN4	OMIM:617913
HP:0000938	Osteopenia	64116	SLC39A8	ORPHA:468699
HP:0000938	Osteopenia	64116	SLC39A8	OMIM:616721
HP:0000938	Osteopenia	404672	GTF2H5	ORPHA:33364
HP:0000938	Osteopenia	833	CARS1	ORPHA:33364
HP:0000938	Osteopenia	2068	ERCC2	ORPHA:33364
HP:0000938	Osteopenia	7737	RNF113A	ORPHA:33364
HP:0000938	Osteopenia	136647	MPLKIP	ORPHA:33364
HP:0000938	Osteopenia	6897	TARS1	ORPHA:33364
HP:0000938	Osteopenia	2071	ERCC3	ORPHA:33364
HP:0000938	Osteopenia	2961	GTF2E2	ORPHA:33364
HP:0000938	Osteopenia	10195	ALG3	ORPHA:79321
HP:0000938	Osteopenia	5836	PYGL	ORPHA:369
HP:0000938	Osteopenia	387733	IFITM5	OMIM:610967
HP:0000938	Osteopenia	60681	FKBP10	OMIM:610968
HP:0000938	Osteopenia	10312	TCIRG1	ORPHA:486
HP:0000938	Osteopenia	1991	ELANE	ORPHA:486
HP:0000938	Osteopenia	2672	GFI1	ORPHA:486
HP:0000938	Osteopenia	81570	CLPB	ORPHA:486
HP:0000938	Osteopenia	29893	PSMC3IP	ORPHA:243
HP:0000938	Osteopenia	171568	POLR3H	ORPHA:243
HP:0000938	Osteopenia	2516	NR5A1	ORPHA:243
HP:0000938	Osteopenia	125150	ZSWIM7	ORPHA:243
HP:0000938	Osteopenia	9210	BMP15	ORPHA:243
HP:0000938	Osteopenia	57122	NUP107	ORPHA:243
HP:0000938	Osteopenia	23514	SPIDR	ORPHA:243
HP:0000938	Osteopenia	2492	FSHR	ORPHA:243
HP:0000938	Osteopenia	56945	MRPS22	ORPHA:243
HP:0000938	Osteopenia	646	BNC1	ORPHA:243
HP:0000938	Osteopenia	91252	SLC39A13	ORPHA:157965
HP:0000938	Osteopenia	91252	SLC39A13	OMIM:612350
HP:0000938	Osteopenia	9742	IFT140	OMIM:266920
HP:0000938	Osteopenia	55151	TMEM38B	OMIM:615066
HP:0000938	Osteopenia	203859	ANO5	OMIM:166260
HP:0000938	Osteopenia	203859	ANO5	ORPHA:53697
HP:0000938	Osteopenia	7227	TRPS1	OMIM:190350
HP:0000938	Osteopenia	7227	TRPS1	OMIM:190351
HP:0000938	Osteopenia	5426	POLE	OMIM:618336
HP:0000938	Osteopenia	284119	CAVIN1	OMIM:613327
HP:0000938	Osteopenia	2200	FBN1	ORPHA:2462
HP:0000938	Osteopenia	6497	SKI	ORPHA:2462
HP:0000938	Osteopenia	6497	SKI	OMIM:182212
HP:0000938	Osteopenia	90417	KNSTRN	OMIM:613328
HP:0000938	Osteopenia	90417	KNSTRN	ORPHA:221139
HP:0000938	Osteopenia	5293	PIK3CD	OMIM:613328
HP:0000938	Osteopenia	5293	PIK3CD	ORPHA:221139
HP:0000938	Osteopenia	865	CBFB	OMIM:620099
HP:0000938	Osteopenia	6658	SOX3	ORPHA:90695
HP:0000938	Osteopenia	2629	GBA1	ORPHA:77259
HP:0000938	Osteopenia	950	SCARB2	ORPHA:77259
HP:0000938	Osteopenia	64132	XYLT2	OMIM:605822
HP:0000938	Osteopenia	128674	PROKR2	ORPHA:432
HP:0000938	Osteopenia	2253	FGF8	ORPHA:432
HP:0000938	Osteopenia	60675	PROK2	ORPHA:432
HP:0000938	Osteopenia	55636	CHD7	ORPHA:432
HP:0000938	Osteopenia	6870	TACR3	ORPHA:432
HP:0000938	Osteopenia	26012	NSMF	ORPHA:432
HP:0000938	Osteopenia	55717	WDR11	ORPHA:432
HP:0000938	Osteopenia	2796	GNRH1	ORPHA:432
HP:0000938	Osteopenia	2798	GNRHR	ORPHA:432
HP:0000938	Osteopenia	6866	TAC3	ORPHA:432
HP:0000938	Osteopenia	3814	KISS1	ORPHA:432
HP:0000938	Osteopenia	5351	PLOD1	OMIM:225400
HP:0000938	Osteopenia	5351	PLOD1	ORPHA:1900
HP:0000938	Osteopenia	2778	GNAS	OMIM:219080
HP:0000938	Osteopenia	8818	DPM2	ORPHA:329178
HP:0000938	Osteopenia	9842	PLEKHM1	OMIM:618107
HP:0000938	Osteopenia	89970	RSPRY1	OMIM:616723
HP:0000938	Osteopenia	89970	RSPRY1	ORPHA:457395
HP:0000938	Osteopenia	7681	MKRN3	OMIM:176270
HP:0000938	Osteopenia	3653	IPW	OMIM:176270
HP:0000938	Osteopenia	791114	PWRN1	OMIM:176270
HP:0000938	Osteopenia	100033413	SNORD116-1	OMIM:176270
HP:0000938	Osteopenia	8924	HERC2	OMIM:176270
HP:0000938	Osteopenia	145624	PWAR1	OMIM:176270
HP:0000938	Osteopenia	23742	NPAP1	OMIM:176270
HP:0000938	Osteopenia	338433	SNORD115-1	OMIM:176270
HP:0000938	Osteopenia	128869	PIGU	OMIM:618590
HP:0000938	Osteopenia	9871	SEC24D	OMIM:616294
HP:0000938	Osteopenia	6809	STX3	OMIM:619445
HP:0000938	Osteopenia	6809	STX3	OMIM:619446
HP:0000938	Osteopenia	57520	HECW2	OMIM:617268
HP:0000938	Osteopenia	23586	RIGI	OMIM:616298
HP:0000938	Osteopenia	6492	SIM1	ORPHA:398079
HP:0000938	Osteopenia	169792	GLIS3	OMIM:610199
HP:0000938	Osteopenia	5831	PYCR1	OMIM:614438
HP:0000938	Osteopenia	5831	PYCR1	OMIM:612940
HP:0000938	Osteopenia	55033	FKBP14	OMIM:614557
HP:0000938	Osteopenia	55033	FKBP14	ORPHA:300179
HP:0000938	Osteopenia	2542	SLC37A4	ORPHA:79259
HP:0000938	Osteopenia	64135	IFIH1	OMIM:182250
HP:0000938	Osteopenia	6609	SMPD1	ORPHA:77293
HP:0000938	Osteopenia	2530	FUT8	OMIM:618005
HP:0000938	Osteopenia	10265	IRX5	OMIM:611174
HP:0000938	Osteopenia	551	AVP	OMIM:125700
HP:0000938	Osteopenia	92344	GORAB	OMIM:231070
HP:0000938	Osteopenia	79577	CDC73	ORPHA:99879
HP:0000938	Osteopenia	26146	TRAF3IP1	OMIM:616629
HP:0000938	Osteopenia	9509	ADAMTS2	ORPHA:1901
HP:0000938	Osteopenia	9509	ADAMTS2	OMIM:225410
HP:0000938	Osteopenia	55750	AGK	OMIM:212350
HP:0000938	Osteopenia	7389	UROD	ORPHA:95159
HP:0000938	Osteopenia	4547	MTTP	ORPHA:14
HP:0000938	Osteopenia	4982	TNFRSF11B	OMIM:239000
HP:0000938	Osteopenia	6557	SLC12A1	OMIM:601678
HP:0000938	Osteopenia	3479	IGF1	OMIM:608747
HP:0000938	Osteopenia	4507	MTAP	OMIM:112250
HP:0000938	Osteopenia	3758	KCNJ1	OMIM:241200
HP:0000938	Osteopenia	8985	PLOD3	OMIM:612394
HP:0000938	Osteopenia	9419	CRIPT	OMIM:615789
HP:0000938	Osteopenia	84701	COX4I2	OMIM:612714
HP:0000938	Osteopenia	4763	NF1	ORPHA:97685
HP:0000938	Osteopenia	5660	PSAP	OMIM:610539
HP:0000938	Osteopenia	538	ATP7A	ORPHA:198
HP:0000938	Osteopenia	10664	CTCF	ORPHA:363611
HP:0000938	Osteopenia	9368	NHERF1	OMIM:612287
HP:0000938	Osteopenia	6569	SLC34A1	OMIM:612286
HP:0000938	Osteopenia	6569	SLC34A1	OMIM:613388
HP:0000938	Osteopenia	9401	RECQL4	ORPHA:221016
HP:0000938	Osteopenia	5205	ATP8B1	OMIM:211600
HP:0000938	Osteopenia	3248	HPGD	OMIM:259100
HP:0000938	Osteopenia	4796	TONSL	OMIM:271510
HP:0000938	Osteopenia	51360	MBTPS2	OMIM:301014
HP:0000938	Osteopenia	6872	TAF1	OMIM:300966
HP:0000938	Osteopenia	285590	SH3PXD2B	OMIM:249420
HP:0000938	Osteopenia	374879	ZNF699	OMIM:619488
HP:0000938	Osteopenia	60676	PAPPA2	OMIM:619489
HP:0000938	Osteopenia	10651	MTX2	OMIM:619127
HP:0000938	Osteopenia	51124	IER3IP1	OMIM:614231
HP:0000938	Osteopenia	202018	TAPT1	OMIM:616897
HP:0000938	Osteopenia	3557	IL1RN	OMIM:612852
HP:0000938	Osteopenia	6514	SLC2A2	ORPHA:2088
HP:0000938	Osteopenia	50485	SMARCAL1	OMIM:242900
HP:0000938	Osteopenia	6554	SLC10A1	OMIM:619256
HP:0000938	Osteopenia	5745	PTH1R	OMIM:156400
HP:0000938	Osteopenia	7390	UROS	OMIM:263700
HP:0000938	Osteopenia	7390	UROS	ORPHA:79277
HP:0000938	Osteopenia	9365	KL	OMIM:617994
HP:0000938	Osteopenia	26503	SLC17A5	OMIM:269920
HP:0000938	Osteopenia	650	BMP2	OMIM:617877
HP:0000938	Osteopenia	4668	NAGA	OMIM:609241
HP:0000938	Osteopenia	100151683	RNU4ATAC	ORPHA:2636
HP:0000938	Osteopenia	10491	CRTAP	OMIM:610682
HP:0000938	Osteopenia	4194	MDM4	OMIM:618849
HP:0000938	Osteopenia	10269	ZMPSTE24	ORPHA:1662
HP:0000938	Osteopenia	55811	ADCY10	ORPHA:2197
HP:0000938	Osteopenia	3295	HSD17B4	OMIM:261515
HP:0000938	Osteopenia	2263	FGFR2	ORPHA:313855
HP:0000938	Osteopenia	166929	SGMS2	OMIM:126550
HP:0000938	Osteopenia	9469	CHST3	OMIM:245600
HP:0000938	Osteopenia	26229	B3GAT3	OMIM:245600
HP:0000938	Osteopenia	375056	MIA3	OMIM:619269
HP:0000938	Osteopenia	80169	CTC1	OMIM:612199
HP:0000938	Osteopenia	9935	MAFB	OMIM:166300
HP:0000938	Osteopenia	25886	POC1A	OMIM:614813
HP:0000938	Osteopenia	871	SERPINH1	OMIM:613848
HP:0000938	Osteopenia	2623	GATA1	ORPHA:79277
HP:0000938	Osteopenia	64682	ANAPC1	ORPHA:221008
HP:0000939	Osteoporosis	171023	ASXL1	ORPHA:98850
HP:0000939	Osteoporosis	171023	ASXL1	ORPHA:98849
HP:0000939	Osteoporosis	54790	TET2	ORPHA:98850
HP:0000939	Osteoporosis	54790	TET2	ORPHA:98849
HP:0000939	Osteoporosis	867	CBL	ORPHA:98850
HP:0000939	Osteoporosis	861	RUNX1	ORPHA:98850
HP:0000939	Osteoporosis	6427	SRSF2	ORPHA:98850
HP:0000939	Osteoporosis	6427	SRSF2	ORPHA:98849
HP:0000939	Osteoporosis	875	CBS	ORPHA:394
HP:0000939	Osteoporosis	875	CBS	OMIM:236200
HP:0000939	Osteoporosis	83932	SPRTN	OMIM:616200
HP:0000939	Osteoporosis	2100	ESR2	OMIM:618187
HP:0000939	Osteoporosis	8838	CCN6	OMIM:208230
HP:0000939	Osteoporosis	4010	LMX1B	ORPHA:2614
HP:0000939	Osteoporosis	6938	TCF12	OMIM:619718
HP:0000939	Osteoporosis	1593	CYP27A1	OMIM:213700
HP:0000939	Osteoporosis	1593	CYP27A1	ORPHA:909
HP:0000939	Osteoporosis	3815	KIT	ORPHA:98849
HP:0000939	Osteoporosis	118429	ANTXR2	ORPHA:2176
HP:0000939	Osteoporosis	118429	ANTXR2	OMIM:228600
HP:0000939	Osteoporosis	64682	ANAPC1	OMIM:618625
HP:0000939	Osteoporosis	1736	DKC1	OMIM:305000
HP:0000939	Osteoporosis	1736	DKC1	ORPHA:1775
HP:0000939	Osteoporosis	538	ATP7A	OMIM:304150
HP:0000939	Osteoporosis	538	ATP7A	ORPHA:565
HP:0000939	Osteoporosis	538	ATP7A	ORPHA:198
HP:0000939	Osteoporosis	538	ATP7A	OMIM:309400
HP:0000939	Osteoporosis	2542	SLC37A4	OMIM:232220
HP:0000939	Osteoporosis	2542	SLC37A4	OMIM:619525
HP:0000939	Osteoporosis	2542	SLC37A4	ORPHA:79259
HP:0000939	Osteoporosis	80270	HSD3B7	ORPHA:79301
HP:0000939	Osteoporosis	91147	TMEM67	OMIM:602152
HP:0000939	Osteoporosis	9401	RECQL4	OMIM:268400
HP:0000939	Osteoporosis	3909	LAMA3	ORPHA:79404
HP:0000939	Osteoporosis	3918	LAMC2	ORPHA:79404
HP:0000939	Osteoporosis	3914	LAMB3	ORPHA:79404
HP:0000939	Osteoporosis	4784	NFIX	ORPHA:447980
HP:0000939	Osteoporosis	4312	MMP1	ORPHA:79408
HP:0000939	Osteoporosis	1294	COL7A1	ORPHA:79408
HP:0000939	Osteoporosis	79577	CDC73	ORPHA:143
HP:0000939	Osteoporosis	79577	CDC73	ORPHA:99880
HP:0000939	Osteoporosis	1528	CYB5A	ORPHA:90796
HP:0000939	Osteoporosis	1586	CYP17A1	ORPHA:90796
HP:0000939	Osteoporosis	4221	MEN1	ORPHA:2965
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:2965
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:96253
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:91347
HP:0000939	Osteoporosis	9049	AIP	ORPHA:2965
HP:0000939	Osteoporosis	9049	AIP	OMIM:219090
HP:0000939	Osteoporosis	4552	MTRR	ORPHA:2169
HP:0000939	Osteoporosis	50940	PDE11A	OMIM:610475
HP:0000939	Osteoporosis	50940	PDE11A	ORPHA:189439
HP:0000939	Osteoporosis	10216	PRG4	ORPHA:2848
HP:0000939	Osteoporosis	7486	WRN	OMIM:277700
HP:0000939	Osteoporosis	7486	WRN	ORPHA:902
HP:0000939	Osteoporosis	26012	NSMF	OMIM:614838
HP:0000939	Osteoporosis	26012	NSMF	ORPHA:432
HP:0000939	Osteoporosis	3764	KCNJ8	ORPHA:1517
HP:0000939	Osteoporosis	10060	ABCC9	ORPHA:1517
HP:0000939	Osteoporosis	10060	ABCC9	OMIM:239850
HP:0000939	Osteoporosis	7015	TERT	OMIM:613989
HP:0000939	Osteoporosis	7015	TERT	OMIM:127550
HP:0000939	Osteoporosis	7015	TERT	ORPHA:1775
HP:0000939	Osteoporosis	57539	WDR35	ORPHA:1515
HP:0000939	Osteoporosis	112752	IFT43	ORPHA:1515
HP:0000939	Osteoporosis	51098	IFT52	ORPHA:1515
HP:0000939	Osteoporosis	55764	IFT122	ORPHA:1515
HP:0000939	Osteoporosis	55764	IFT122	OMIM:218330
HP:0000939	Osteoporosis	57728	WDR19	ORPHA:1515
HP:0000939	Osteoporosis	535	ATP6V0A1	OMIM:619971
HP:0000939	Osteoporosis	2859	GPR35	ORPHA:171
HP:0000939	Osteoporosis	10507	SEMA4D	ORPHA:171
HP:0000939	Osteoporosis	4485	MST1	ORPHA:171
HP:0000939	Osteoporosis	6925	TCF4	ORPHA:171
HP:0000939	Osteoporosis	54453	RIN2	OMIM:613075
HP:0000939	Osteoporosis	26277	TINF2	OMIM:613990
HP:0000939	Osteoporosis	26277	TINF2	OMIM:127550
HP:0000939	Osteoporosis	26277	TINF2	ORPHA:1775
HP:0000939	Osteoporosis	4853	NOTCH2	OMIM:102500
HP:0000939	Osteoporosis	4853	NOTCH2	ORPHA:955
HP:0000939	Osteoporosis	2538	G6PC1	OMIM:232200
HP:0000939	Osteoporosis	5573	PRKAR1A	OMIM:610489
HP:0000939	Osteoporosis	5573	PRKAR1A	ORPHA:189439
HP:0000939	Osteoporosis	55858	TMEM165	OMIM:614727
HP:0000939	Osteoporosis	3117	HLA-DQA1	OMIM:212750
HP:0000939	Osteoporosis	3119	HLA-DQB1	OMIM:212750
HP:0000939	Osteoporosis	5095	PCCA	OMIM:606054
HP:0000939	Osteoporosis	5096	PCCB	OMIM:606054
HP:0000939	Osteoporosis	4313	MMP2	ORPHA:371428
HP:0000939	Osteoporosis	4313	MMP2	OMIM:259600
HP:0000939	Osteoporosis	4323	MMP14	ORPHA:371428
HP:0000939	Osteoporosis	10815	CPLX1	ORPHA:280
HP:0000939	Osteoporosis	54872	PIGG	ORPHA:280
HP:0000939	Osteoporosis	7469	NELFA	ORPHA:280
HP:0000939	Osteoporosis	1487	CTBP1	ORPHA:280
HP:0000939	Osteoporosis	3954	LETM1	ORPHA:280
HP:0000939	Osteoporosis	7468	NSD2	ORPHA:280
HP:0000939	Osteoporosis	5424	POLD1	OMIM:615381
HP:0000939	Osteoporosis	1848	DUSP6	OMIM:615269
HP:0000939	Osteoporosis	1848	DUSP6	ORPHA:432
HP:0000939	Osteoporosis	2720	GLB1	OMIM:253010
HP:0000939	Osteoporosis	54756	IL17RD	OMIM:615267
HP:0000939	Osteoporosis	2492	FSHR	OMIM:233300
HP:0000939	Osteoporosis	93627	TBCK	ORPHA:488632
HP:0000939	Osteoporosis	649	BMP1	OMIM:614856
HP:0000939	Osteoporosis	7471	WNT1	ORPHA:85193
HP:0000939	Osteoporosis	22943	DKK1	ORPHA:85193
HP:0000939	Osteoporosis	89780	WNT3A	ORPHA:85193
HP:0000939	Osteoporosis	6662	SOX9	ORPHA:251510
HP:0000939	Osteoporosis	6845	VAMP7	ORPHA:251510
HP:0000939	Osteoporosis	51741	WWOX	ORPHA:251510
HP:0000939	Osteoporosis	4214	MAP3K1	ORPHA:251510
HP:0000939	Osteoporosis	2516	NR5A1	ORPHA:251510
HP:0000939	Osteoporosis	7490	WT1	ORPHA:251510
HP:0000939	Osteoporosis	58524	DMRT3	ORPHA:251510
HP:0000939	Osteoporosis	57647	DHX37	ORPHA:251510
HP:0000939	Osteoporosis	6736	SRY	ORPHA:251510
HP:0000939	Osteoporosis	23414	ZFPM2	ORPHA:251510
HP:0000939	Osteoporosis	190	NR0B1	ORPHA:251510
HP:0000939	Osteoporosis	2626	GATA4	ORPHA:251510
HP:0000939	Osteoporosis	64132	XYLT2	ORPHA:85194
HP:0000939	Osteoporosis	1588	CYP19A1	ORPHA:91
HP:0000939	Osteoporosis	2074	ERCC6	OMIM:214150
HP:0000939	Osteoporosis	2074	ERCC6	OMIM:133540
HP:0000939	Osteoporosis	3043	HBB	ORPHA:232
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231214
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231222
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231226
HP:0000939	Osteoporosis	1798	DPAGT1	ORPHA:86309
HP:0000939	Osteoporosis	9056	SLC7A7	ORPHA:470
HP:0000939	Osteoporosis	9056	SLC7A7	OMIM:222700
HP:0000939	Osteoporosis	55768	NGLY1	OMIM:615273
HP:0000939	Osteoporosis	8822	FGF17	OMIM:615270
HP:0000939	Osteoporosis	8822	FGF17	ORPHA:432
HP:0000939	Osteoporosis	23767	FLRT3	OMIM:615271
HP:0000939	Osteoporosis	51604	PIGT	OMIM:615398
HP:0000939	Osteoporosis	213	ALB	OMIM:616000
HP:0000939	Osteoporosis	5566	PRKACA	OMIM:615830
HP:0000939	Osteoporosis	5566	PRKACA	ORPHA:189439
HP:0000939	Osteoporosis	6135	RPL11	OMIM:612562
HP:0000939	Osteoporosis	79633	FAT4	OMIM:616006
HP:0000939	Osteoporosis	8622	PDE8B	ORPHA:189439
HP:0000939	Osteoporosis	6804	STX1A	ORPHA:904
HP:0000939	Osteoporosis	6804	STX1A	ORPHA:586
HP:0000939	Osteoporosis	7461	CLIP2	ORPHA:904
HP:0000939	Osteoporosis	84277	DNAJC30	ORPHA:904
HP:0000939	Osteoporosis	8468	FKBP6	ORPHA:904
HP:0000939	Osteoporosis	5982	RFC2	ORPHA:904
HP:0000939	Osteoporosis	2969	GTF2I	ORPHA:904
HP:0000939	Osteoporosis	3984	LIMK1	ORPHA:904
HP:0000939	Osteoporosis	9569	GTF2IRD1	ORPHA:904
HP:0000939	Osteoporosis	155382	VPS37D	ORPHA:904
HP:0000939	Osteoporosis	155368	METTL27	ORPHA:904
HP:0000939	Osteoporosis	114049	BUD23	ORPHA:904
HP:0000939	Osteoporosis	7458	EIF4H	ORPHA:904
HP:0000939	Osteoporosis	84163	GTF2IRD2	ORPHA:904
HP:0000939	Osteoporosis	9275	BCL7B	ORPHA:904
HP:0000939	Osteoporosis	26608	TBL2	ORPHA:904
HP:0000939	Osteoporosis	653361	NCF1	ORPHA:904
HP:0000939	Osteoporosis	135886	TMEM270	ORPHA:904
HP:0000939	Osteoporosis	51085	MLXIPL	ORPHA:904
HP:0000939	Osteoporosis	51085	MLXIPL	OMIM:194050
HP:0000939	Osteoporosis	9031	BAZ1B	ORPHA:904
HP:0000939	Osteoporosis	2006	ELN	ORPHA:904
HP:0000939	Osteoporosis	2006	ELN	OMIM:194050
HP:0000939	Osteoporosis	79798	ARMC5	OMIM:615954
HP:0000939	Osteoporosis	79798	ARMC5	ORPHA:189427
HP:0000939	Osteoporosis	5428	POLG	OMIM:203700
HP:0000939	Osteoporosis	5428	POLG	ORPHA:254892
HP:0000939	Osteoporosis	6134	RPL10	ORPHA:459070
HP:0000939	Osteoporosis	6134	RPL10	OMIM:300998
HP:0000939	Osteoporosis	1277	COL1A1	OMIM:166710
HP:0000939	Osteoporosis	1278	COL1A2	OMIM:166710
HP:0000939	Osteoporosis	799	CALCR	OMIM:166710
HP:0000939	Osteoporosis	8572	PDLIM4	OMIM:166710
HP:0000939	Osteoporosis	6609	SMPD1	OMIM:257200
HP:0000939	Osteoporosis	6609	SMPD1	ORPHA:77293
HP:0000939	Osteoporosis	4040	LRP6	OMIM:610947
HP:0000939	Osteoporosis	2947	GSTM3	ORPHA:586
HP:0000939	Osteoporosis	7040	TGFB1	ORPHA:586
HP:0000939	Osteoporosis	2729	GCLC	ORPHA:586
HP:0000939	Osteoporosis	1084	CEACAM3	ORPHA:586
HP:0000939	Osteoporosis	6556	SLC11A1	ORPHA:586
HP:0000939	Osteoporosis	51164	DCTN4	ORPHA:586
HP:0000939	Osteoporosis	3783	KCNN4	ORPHA:586
HP:0000939	Osteoporosis	4282	MIF	ORPHA:586
HP:0000939	Osteoporosis	1909	EDNRA	ORPHA:586
HP:0000939	Osteoporosis	6550	SLC9A3	ORPHA:586
HP:0000939	Osteoporosis	3162	HMOX1	ORPHA:586
HP:0000939	Osteoporosis	115019	SLC26A9	ORPHA:586
HP:0000939	Osteoporosis	3077	HFE	ORPHA:586
HP:0000939	Osteoporosis	3077	HFE	ORPHA:465508
HP:0000939	Osteoporosis	3077	HFE	OMIM:235200
HP:0000939	Osteoporosis	11254	SLC6A14	ORPHA:586
HP:0000939	Osteoporosis	5265	SERPINA1	ORPHA:586
HP:0000939	Osteoporosis	1080	CFTR	ORPHA:586
HP:0000939	Osteoporosis	22802	CLCA4	ORPHA:586
HP:0000939	Osteoporosis	4680	CEACAM6	ORPHA:586
HP:0000939	Osteoporosis	26137	ZBTB20	OMIM:259050
HP:0000939	Osteoporosis	9321	TRIP11	OMIM:184260
HP:0000939	Osteoporosis	8733	GPAA1	ORPHA:529665
HP:0000939	Osteoporosis	5159	PDGFRB	OMIM:601812
HP:0000939	Osteoporosis	4982	TNFRSF11B	ORPHA:2801
HP:0000939	Osteoporosis	4982	TNFRSF11B	OMIM:239000
HP:0000939	Osteoporosis	8792	TNFRSF11A	ORPHA:2801
HP:0000939	Osteoporosis	2778	GNAS	ORPHA:189427
HP:0000939	Osteoporosis	2778	GNAS	OMIM:612463
HP:0000939	Osteoporosis	2778	GNAS	OMIM:612462
HP:0000939	Osteoporosis	2778	GNAS	OMIM:219080
HP:0000939	Osteoporosis	2778	GNAS	OMIM:103580
HP:0000939	Osteoporosis	6714	SRC	OMIM:616937
HP:0000939	Osteoporosis	540	ATP7B	OMIM:277900
HP:0000939	Osteoporosis	124583	CANT1	OMIM:251450
HP:0000939	Osteoporosis	11107	PRDM5	ORPHA:90354
HP:0000939	Osteoporosis	84627	ZNF469	ORPHA:90354
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:98754
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:177904
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:177901
HP:0000939	Osteoporosis	4692	NDN	ORPHA:98754
HP:0000939	Osteoporosis	4692	NDN	ORPHA:177904
HP:0000939	Osteoporosis	4692	NDN	ORPHA:177901
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:98754
HP:0000939	Osteoporosis	54551	MAGEL2	OMIM:176270
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:177904
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:177901
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:398069
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:98754
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:177904
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:177901
HP:0000939	Osteoporosis	9968	MED12	OMIM:301068
HP:0000939	Osteoporosis	5373	PMM2	ORPHA:79318
HP:0000939	Osteoporosis	5618	PRLR	ORPHA:397685
HP:0000939	Osteoporosis	9394	HS6ST1	OMIM:614880
HP:0000939	Osteoporosis	9394	HS6ST1	ORPHA:432
HP:0000939	Osteoporosis	3977	LIFR	ORPHA:3206
HP:0000939	Osteoporosis	3977	LIFR	OMIM:601559
HP:0000939	Osteoporosis	55275	VPS53	OMIM:615851
HP:0000939	Osteoporosis	6611	SMS	OMIM:309583
HP:0000939	Osteoporosis	6611	SMS	ORPHA:3063
HP:0000939	Osteoporosis	654	BMP6	ORPHA:465508
HP:0000939	Osteoporosis	7048	TGFBR2	OMIM:610168
HP:0000939	Osteoporosis	3339	HSPG2	OMIM:255800
HP:0000939	Osteoporosis	3339	HSPG2	ORPHA:800
HP:0000939	Osteoporosis	5836	PYGL	ORPHA:369
HP:0000939	Osteoporosis	5256	PHKA2	ORPHA:264580
HP:0000939	Osteoporosis	5261	PHKG2	ORPHA:264580
HP:0000939	Osteoporosis	93587	TRMT10A	OMIM:616033
HP:0000939	Osteoporosis	284119	CAVIN1	OMIM:613327
HP:0000939	Osteoporosis	6309	SC5D	OMIM:607330
HP:0000939	Osteoporosis	3479	IGF1	ORPHA:73272
HP:0000939	Osteoporosis	4088	SMAD3	ORPHA:284984
HP:0000939	Osteoporosis	291	SLC25A4	ORPHA:254892
HP:0000939	Osteoporosis	56652	TWNK	ORPHA:254892
HP:0000939	Osteoporosis	11232	POLG2	ORPHA:254892
HP:0000939	Osteoporosis	50484	RRM2B	ORPHA:254892
HP:0000939	Osteoporosis	2260	FGFR1	ORPHA:432
HP:0000939	Osteoporosis	81848	SPRY4	ORPHA:432
HP:0000939	Osteoporosis	128674	PROKR2	ORPHA:432
HP:0000939	Osteoporosis	2253	FGF8	ORPHA:432
HP:0000939	Osteoporosis	60675	PROK2	ORPHA:432
HP:0000939	Osteoporosis	60675	PROK2	OMIM:610628
HP:0000939	Osteoporosis	55636	CHD7	ORPHA:432
HP:0000939	Osteoporosis	6870	TACR3	ORPHA:432
HP:0000939	Osteoporosis	55717	WDR11	ORPHA:432
HP:0000939	Osteoporosis	2796	GNRH1	ORPHA:432
HP:0000939	Osteoporosis	2798	GNRHR	ORPHA:432
HP:0000939	Osteoporosis	84634	KISS1R	ORPHA:432
HP:0000939	Osteoporosis	6866	TAC3	ORPHA:432
HP:0000939	Osteoporosis	3814	KISS1	ORPHA:432
HP:0000939	Osteoporosis	5351	PLOD1	OMIM:225400
HP:0000939	Osteoporosis	5351	PLOD1	ORPHA:1900
HP:0000939	Osteoporosis	5193	PEX12	OMIM:266510
HP:0000939	Osteoporosis	7681	MKRN3	OMIM:176270
HP:0000939	Osteoporosis	3653	IPW	OMIM:176270
HP:0000939	Osteoporosis	791114	PWRN1	OMIM:176270
HP:0000939	Osteoporosis	100033413	SNORD116-1	OMIM:176270
HP:0000939	Osteoporosis	8924	HERC2	OMIM:176270
HP:0000939	Osteoporosis	145624	PWAR1	OMIM:176270
HP:0000939	Osteoporosis	23742	NPAP1	OMIM:176270
HP:0000939	Osteoporosis	338433	SNORD115-1	OMIM:176270
HP:0000939	Osteoporosis	2099	ESR1	ORPHA:785
HP:0000939	Osteoporosis	51103	NDUFAF1	OMIM:618234
HP:0000939	Osteoporosis	6492	SIM1	ORPHA:398079
HP:0000939	Osteoporosis	5831	PYCR1	OMIM:614438
HP:0000939	Osteoporosis	5831	PYCR1	ORPHA:2078
HP:0000939	Osteoporosis	7012	TERC	OMIM:127550
HP:0000939	Osteoporosis	7012	TERC	ORPHA:1775
HP:0000939	Osteoporosis	4041	LRP5	OMIM:259770
HP:0000939	Osteoporosis	4041	LRP5	ORPHA:2788
HP:0000939	Osteoporosis	2710	GK	OMIM:307030
HP:0000939	Osteoporosis	2592	GALT	ORPHA:79239
HP:0000939	Osteoporosis	64135	IFIH1	OMIM:182250
HP:0000939	Osteoporosis	427	ASAH1	ORPHA:333
HP:0000939	Osteoporosis	84196	USP48	ORPHA:96253
HP:0000939	Osteoporosis	7157	TP53	ORPHA:96253
HP:0000939	Osteoporosis	9101	USP8	ORPHA:96253
HP:0000939	Osteoporosis	9101	USP8	OMIM:219090
HP:0000939	Osteoporosis	2908	NR3C1	ORPHA:96253
HP:0000939	Osteoporosis	673	BRAF	ORPHA:96253
HP:0000939	Osteoporosis	546	ATRX	ORPHA:96253
HP:0000939	Osteoporosis	22930	RAB3GAP1	OMIM:600118
HP:0000939	Osteoporosis	165	AEBP1	OMIM:618000
HP:0000939	Osteoporosis	5257	PHKB	ORPHA:79240
HP:0000939	Osteoporosis	1280	COL2A1	ORPHA:94068
HP:0000939	Osteoporosis	92344	GORAB	OMIM:231070
HP:0000939	Osteoporosis	92344	GORAB	ORPHA:2078
HP:0000939	Osteoporosis	6678	SPARC	OMIM:616507
HP:0000939	Osteoporosis	9719	ADAMTSL2	ORPHA:1901
HP:0000939	Osteoporosis	9509	ADAMTS2	ORPHA:1901
HP:0000939	Osteoporosis	3248	HPGD	ORPHA:2796
HP:0000939	Osteoporosis	3248	HPGD	OMIM:259100
HP:0000939	Osteoporosis	6578	SLCO2A1	ORPHA:2796
HP:0000939	Osteoporosis	7389	UROD	ORPHA:95159
HP:0000939	Osteoporosis	1583	CYP11A1	ORPHA:289548
HP:0000939	Osteoporosis	1583	CYP11A1	ORPHA:168558
HP:0000939	Osteoporosis	9451	EIF2AK3	OMIM:226980
HP:0000939	Osteoporosis	23395	LARS2	OMIM:615300
HP:0000939	Osteoporosis	860	RUNX2	ORPHA:1452
HP:0000939	Osteoporosis	57817	HAMP	ORPHA:79230
HP:0000939	Osteoporosis	148738	HJV	ORPHA:79230
HP:0000939	Osteoporosis	4000	LMNA	ORPHA:79474
HP:0000939	Osteoporosis	4763	NF1	ORPHA:97685
HP:0000939	Osteoporosis	60386	SLC25A19	ORPHA:99742
HP:0000939	Osteoporosis	650	BMP2	OMIM:235200
HP:0000939	Osteoporosis	9150	CTDP1	ORPHA:48431
HP:0000939	Osteoporosis	55651	NHP2	OMIM:224230
HP:0000939	Osteoporosis	55651	NHP2	ORPHA:1775
HP:0000939	Osteoporosis	55505	NOP10	OMIM:224230
HP:0000939	Osteoporosis	55505	NOP10	ORPHA:1775
HP:0000939	Osteoporosis	9368	NHERF1	OMIM:612287
HP:0000939	Osteoporosis	2588	GALNS	OMIM:253000
HP:0000939	Osteoporosis	6569	SLC34A1	OMIM:612286
HP:0000939	Osteoporosis	5352	PLOD2	ORPHA:2771
HP:0000939	Osteoporosis	60681	FKBP10	ORPHA:2771
HP:0000939	Osteoporosis	60681	FKBP10	OMIM:259450
HP:0000939	Osteoporosis	3594	IL12RB1	ORPHA:186
HP:0000939	Osteoporosis	23534	TNPO3	ORPHA:186
HP:0000939	Osteoporosis	3592	IL12A	ORPHA:186
HP:0000939	Osteoporosis	6689	SPIB	ORPHA:186
HP:0000939	Osteoporosis	5450	POU2AF1	ORPHA:186
HP:0000939	Osteoporosis	9966	TNFSF15	ORPHA:186
HP:0000939	Osteoporosis	79258	MMEL1	ORPHA:186
HP:0000939	Osteoporosis	3663	IRF5	ORPHA:186
HP:0000939	Osteoporosis	100147744	RNU7-1	OMIM:619487
HP:0000939	Osteoporosis	285590	SH3PXD2B	OMIM:249420
HP:0000939	Osteoporosis	79983	POF1B	OMIM:300604
HP:0000939	Osteoporosis	3295	HSD17B4	OMIM:233400
HP:0000939	Osteoporosis	126792	B3GALT6	OMIM:271640
HP:0000939	Osteoporosis	126792	B3GALT6	ORPHA:536467
HP:0000939	Osteoporosis	55252	ASXL2	OMIM:617190
HP:0000939	Osteoporosis	11014	KDELR2	OMIM:619131
HP:0000939	Osteoporosis	100151683	RNU4ATAC	ORPHA:2636
HP:0000939	Osteoporosis	8815	BANF1	OMIM:614008
HP:0000939	Osteoporosis	55811	ADCY10	ORPHA:2197
HP:0000939	Osteoporosis	166929	SGMS2	OMIM:126550
HP:0000939	Osteoporosis	9469	CHST3	OMIM:245600
HP:0000939	Osteoporosis	26229	B3GAT3	OMIM:245600
HP:0000939	Osteoporosis	80169	CTC1	OMIM:612199
HP:0000939	Osteoporosis	80169	CTC1	ORPHA:1775
HP:0000939	Osteoporosis	79650	USB1	ORPHA:1775
HP:0000939	Osteoporosis	55135	WRAP53	ORPHA:1775
HP:0000939	Osteoporosis	51750	RTEL1	ORPHA:1775
HP:0000939	Osteoporosis	4869	NPM1	ORPHA:1775
HP:0000939	Osteoporosis	5073	PARN	ORPHA:1775
HP:0000939	Osteoporosis	7298	TYMS	ORPHA:1775
HP:0000939	Osteoporosis	10892	MALT1	OMIM:615468
HP:0000939	Osteoporosis	7390	UROS	ORPHA:79277
HP:0000939	Osteoporosis	2623	GATA1	ORPHA:79277
HP:0000939	Osteoporosis	121340	SP7	OMIM:613849
HP:0000939	Osteoporosis	29893	PSMC3IP	ORPHA:243
HP:0000939	Osteoporosis	171568	POLR3H	ORPHA:243
HP:0000939	Osteoporosis	125150	ZSWIM7	ORPHA:243
HP:0000939	Osteoporosis	9210	BMP15	ORPHA:243
HP:0000939	Osteoporosis	57122	NUP107	ORPHA:243
HP:0000939	Osteoporosis	23514	SPIDR	ORPHA:243
HP:0000939	Osteoporosis	56945	MRPS22	ORPHA:243
HP:0000939	Osteoporosis	646	BNC1	ORPHA:243
HP:0000939	Osteoporosis	5626	PROP1	ORPHA:95494
HP:0000939	Osteoporosis	5626	PROP1	ORPHA:90695
HP:0000939	Osteoporosis	2736	GLI2	ORPHA:95494
HP:0000939	Osteoporosis	89884	LHX4	ORPHA:95494
HP:0000939	Osteoporosis	3170	FOXA2	ORPHA:95494
HP:0000939	Osteoporosis	5449	POU1F1	ORPHA:95494
HP:0000939	Osteoporosis	8820	HESX1	ORPHA:95494
HP:0000939	Osteoporosis	5015	OTX2	ORPHA:95494
HP:0000939	Osteoporosis	6658	SOX3	ORPHA:90695
HP:0000939	Osteoporosis	6772	STAT1	ORPHA:391487
HP:0000939	Osteoporosis	10043	TOM1	ORPHA:391487
HP:0000939	Osteoporosis	55603	TENT5A	OMIM:617952
HP:0000939	Osteoporosis	23314	SATB2	OMIM:612313
HP:0000939	Osteoporosis	9247	GCM2	ORPHA:99879
HP:0000939	Osteoporosis	5654	HTRA1	ORPHA:199354
HP:0000939	Osteoporosis	6399	TRAPPC2	ORPHA:93284
HP:0000940	Abnormal diaphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0000940	Abnormal diaphysis morphology	118429	ANTXR2	ORPHA:2028
HP:0000940	Abnormal diaphysis morphology	51098	IFT52	ORPHA:1515
HP:0000940	Abnormal diaphysis morphology	55764	IFT122	ORPHA:1515
HP:0000940	Abnormal diaphysis morphology	2697	GJA1	ORPHA:2710
HP:0000940	Abnormal diaphysis morphology	1497	CTNS	OMIM:219800
HP:0000940	Abnormal diaphysis morphology	875	CBS	ORPHA:394
HP:0000940	Abnormal diaphysis morphology	2131	EXT1	OMIM:133700
HP:0000940	Abnormal diaphysis morphology	2131	EXT1	ORPHA:321
HP:0000940	Abnormal diaphysis morphology	2131	EXT1	ORPHA:502
HP:0000940	Abnormal diaphysis morphology	51256	TBC1D7	OMIM:248000
HP:0000940	Abnormal diaphysis morphology	2132	EXT2	OMIM:133701
HP:0000940	Abnormal diaphysis morphology	2132	EXT2	ORPHA:321
HP:0000940	Abnormal diaphysis morphology	2972	BRF1	OMIM:616202
HP:0000940	Abnormal diaphysis morphology	7360	UGP2	OMIM:618744
HP:0000940	Abnormal diaphysis morphology	10992	SF3B2	OMIM:164210
HP:0000940	Abnormal diaphysis morphology	538	ATP7A	OMIM:304150
HP:0000940	Abnormal diaphysis morphology	538	ATP7A	ORPHA:198
HP:0000940	Abnormal diaphysis morphology	58	ACTA1	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	7169	TPM2	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	4703	NEB	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	10324	KLHL41	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	56203	LMOD3	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	1073	CFL2	ORPHA:171436
HP:0000940	Abnormal diaphysis morphology	3021	H3-3B	OMIM:619721
HP:0000940	Abnormal diaphysis morphology	55790	CSGALNACT1	OMIM:618870
HP:0000940	Abnormal diaphysis morphology	23322	RPGRIP1L	OMIM:611560
HP:0000940	Abnormal diaphysis morphology	176	ACAN	OMIM:608361
HP:0000940	Abnormal diaphysis morphology	84572	GNPTG	OMIM:252605
HP:0000940	Abnormal diaphysis morphology	64324	NSD1	OMIM:117550
HP:0000940	Abnormal diaphysis morphology	54880	BCOR	ORPHA:2712
HP:0000940	Abnormal diaphysis morphology	815	CAMK2A	OMIM:617798
HP:0000940	Abnormal diaphysis morphology	4853	NOTCH2	OMIM:102500
HP:0000940	Abnormal diaphysis morphology	10381	TUBB3	ORPHA:300570
HP:0000940	Abnormal diaphysis morphology	55699	IARS2	ORPHA:436174
HP:0000940	Abnormal diaphysis morphology	55699	IARS2	OMIM:616007
HP:0000940	Abnormal diaphysis morphology	83480	PUS3	ORPHA:488627
HP:0000940	Abnormal diaphysis morphology	157680	VPS13B	OMIM:216550
HP:0000940	Abnormal diaphysis morphology	157680	VPS13B	ORPHA:193
HP:0000940	Abnormal diaphysis morphology	5566	PRKACA	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	5566	PRKACA	OMIM:619142
HP:0000940	Abnormal diaphysis morphology	5567	PRKACB	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	5567	PRKACB	OMIM:619143
HP:0000940	Abnormal diaphysis morphology	2735	GLI1	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	2735	GLI1	OMIM:618123
HP:0000940	Abnormal diaphysis morphology	2121	EVC	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	2121	EVC	OMIM:225500
HP:0000940	Abnormal diaphysis morphology	51626	DYNC2LI1	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	132884	EVC2	ORPHA:289
HP:0000940	Abnormal diaphysis morphology	132884	EVC2	OMIM:225500
HP:0000940	Abnormal diaphysis morphology	9839	ZEB2	ORPHA:261552
HP:0000940	Abnormal diaphysis morphology	9839	ZEB2	ORPHA:261537
HP:0000940	Abnormal diaphysis morphology	2720	GLB1	OMIM:253010
HP:0000940	Abnormal diaphysis morphology	3425	IDUA	OMIM:607016
HP:0000940	Abnormal diaphysis morphology	374654	KIF7	OMIM:607131
HP:0000940	Abnormal diaphysis morphology	374654	KIF7	ORPHA:166024
HP:0000940	Abnormal diaphysis morphology	5376	PMP22	ORPHA:3115
HP:0000940	Abnormal diaphysis morphology	4359	MPZ	ORPHA:3115
HP:0000940	Abnormal diaphysis morphology	1588	CYP19A1	ORPHA:91
HP:0000940	Abnormal diaphysis morphology	9653	HS2ST1	OMIM:619194
HP:0000940	Abnormal diaphysis morphology	3043	HBB	ORPHA:231214
HP:0000940	Abnormal diaphysis morphology	3043	HBB	ORPHA:231226
HP:0000940	Abnormal diaphysis morphology	6804	STX1A	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	7461	CLIP2	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	84277	DNAJC30	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	8468	FKBP6	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	5982	RFC2	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	2969	GTF2I	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	3984	LIMK1	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	9569	GTF2IRD1	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	155382	VPS37D	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	155368	METTL27	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	114049	BUD23	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	7458	EIF4H	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	84163	GTF2IRD2	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	9275	BCL7B	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	26608	TBL2	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	653361	NCF1	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	135886	TMEM270	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	51085	MLXIPL	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	9031	BAZ1B	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	2006	ELN	ORPHA:904
HP:0000940	Abnormal diaphysis morphology	4952	OCRL	OMIM:309000
HP:0000940	Abnormal diaphysis morphology	4952	OCRL	ORPHA:534
HP:0000940	Abnormal diaphysis morphology	55027	HEATR3	OMIM:620072
HP:0000940	Abnormal diaphysis morphology	26137	ZBTB20	OMIM:259050
HP:0000940	Abnormal diaphysis morphology	54928	BPNT2	OMIM:614078
HP:0000940	Abnormal diaphysis morphology	8838	CCN6	ORPHA:1159
HP:0000940	Abnormal diaphysis morphology	3835	KIF22	OMIM:603546
HP:0000940	Abnormal diaphysis morphology	3835	KIF22	ORPHA:93360
HP:0000940	Abnormal diaphysis morphology	7030	TFE3	OMIM:301066
HP:0000940	Abnormal diaphysis morphology	23162	MAPK8IP3	OMIM:618443
HP:0000940	Abnormal diaphysis morphology	9394	HS6ST1	OMIM:614880
HP:0000940	Abnormal diaphysis morphology	23483	TGDS	OMIM:616145
HP:0000940	Abnormal diaphysis morphology	546	ATRX	OMIM:309580
HP:0000940	Abnormal diaphysis morphology	7994	KAT6A	OMIM:616268
HP:0000940	Abnormal diaphysis morphology	1186	CLCN7	ORPHA:53
HP:0000940	Abnormal diaphysis morphology	1297	COL9A1	ORPHA:250984
HP:0000940	Abnormal diaphysis morphology	1297	COL9A1	ORPHA:166002
HP:0000940	Abnormal diaphysis morphology	1297	COL9A1	OMIM:614134
HP:0000940	Abnormal diaphysis morphology	1298	COL9A2	ORPHA:250984
HP:0000940	Abnormal diaphysis morphology	1298	COL9A2	ORPHA:166002
HP:0000940	Abnormal diaphysis morphology	1299	COL9A3	ORPHA:250984
HP:0000940	Abnormal diaphysis morphology	1299	COL9A3	ORPHA:166002
HP:0000940	Abnormal diaphysis morphology	84695	LOXL3	ORPHA:250984
HP:0000940	Abnormal diaphysis morphology	2200	FBN1	ORPHA:2462
HP:0000940	Abnormal diaphysis morphology	6497	SKI	ORPHA:2462
HP:0000940	Abnormal diaphysis morphology	6497	SKI	OMIM:182212
HP:0000940	Abnormal diaphysis morphology	55081	IFT57	OMIM:617927
HP:0000940	Abnormal diaphysis morphology	865	CBFB	OMIM:620099
HP:0000940	Abnormal diaphysis morphology	9361	LONP1	OMIM:600373
HP:0000940	Abnormal diaphysis morphology	10466	COG5	ORPHA:263487
HP:0000940	Abnormal diaphysis morphology	579	NKX3-2	OMIM:613330
HP:0000940	Abnormal diaphysis morphology	26160	IFT172	OMIM:615630
HP:0000940	Abnormal diaphysis morphology	23394	ADNP	OMIM:615873
HP:0000940	Abnormal diaphysis morphology	7681	MKRN3	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	3653	IPW	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	54551	MAGEL2	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	791114	PWRN1	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	100033413	SNORD116-1	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	8924	HERC2	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	145624	PWAR1	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	23742	NPAP1	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	338433	SNORD115-1	OMIM:176270
HP:0000940	Abnormal diaphysis morphology	411	ARSB	OMIM:253200
HP:0000940	Abnormal diaphysis morphology	59341	TRPV4	OMIM:156530
HP:0000940	Abnormal diaphysis morphology	59341	TRPV4	OMIM:168400
HP:0000940	Abnormal diaphysis morphology	59341	TRPV4	OMIM:184095
HP:0000940	Abnormal diaphysis morphology	8882	ZPR1	OMIM:619321
HP:0000940	Abnormal diaphysis morphology	137682	NDUFAF6	OMIM:618913
HP:0000940	Abnormal diaphysis morphology	55784	MCTP2	ORPHA:1596
HP:0000940	Abnormal diaphysis morphology	64135	IFIH1	OMIM:182250
HP:0000940	Abnormal diaphysis morphology	153642	ARSK	OMIM:619698
HP:0000940	Abnormal diaphysis morphology	4998	ORC1	OMIM:224690
HP:0000940	Abnormal diaphysis morphology	84068	SLC10A7	OMIM:618363
HP:0000940	Abnormal diaphysis morphology	5604	MAP2K1	ORPHA:1340
HP:0000940	Abnormal diaphysis morphology	5605	MAP2K2	ORPHA:1340
HP:0000940	Abnormal diaphysis morphology	3845	KRAS	ORPHA:1340
HP:0000940	Abnormal diaphysis morphology	673	BRAF	ORPHA:1340
HP:0000940	Abnormal diaphysis morphology	23111	SPART	ORPHA:101000
HP:0000940	Abnormal diaphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0000940	Abnormal diaphysis morphology	54681	P4HTM	OMIM:618493
HP:0000940	Abnormal diaphysis morphology	860	RUNX2	ORPHA:1452
HP:0000940	Abnormal diaphysis morphology	51715	RAB23	ORPHA:65759
HP:0000940	Abnormal diaphysis morphology	51715	RAB23	OMIM:201000
HP:0000940	Abnormal diaphysis morphology	1954	MEGF8	ORPHA:65759
HP:0000940	Abnormal diaphysis morphology	6424	SFRP4	OMIM:265900
HP:0000940	Abnormal diaphysis morphology	10526	IPO8	OMIM:619472
HP:0000940	Abnormal diaphysis morphology	6711	SPTBN1	OMIM:619475
HP:0000940	Abnormal diaphysis morphology	2588	GALNS	OMIM:253000
HP:0000940	Abnormal diaphysis morphology	80152	CENPT	OMIM:618702
HP:0000940	Abnormal diaphysis morphology	4796	TONSL	ORPHA:93357
HP:0000940	Abnormal diaphysis morphology	4796	TONSL	OMIM:271510
HP:0000940	Abnormal diaphysis morphology	5184	PEPD	ORPHA:742
HP:0000940	Abnormal diaphysis morphology	7227	TRPS1	ORPHA:502
HP:0000940	Abnormal diaphysis morphology	374879	ZNF699	OMIM:619488
HP:0000940	Abnormal diaphysis morphology	10651	MTX2	OMIM:619127
HP:0000940	Abnormal diaphysis morphology	126792	B3GALT6	OMIM:271640
HP:0000940	Abnormal diaphysis morphology	2990	GUSB	OMIM:253220
HP:0000940	Abnormal diaphysis morphology	8139	GAN	ORPHA:643
HP:0000940	Abnormal diaphysis morphology	26229	B3GAT3	OMIM:245600
HP:0000940	Abnormal diaphysis morphology	83452	RAB33B	OMIM:615222
HP:0000940	Abnormal diaphysis morphology	80169	CTC1	OMIM:612199
HP:0000940	Abnormal diaphysis morphology	79631	EFL1	OMIM:617941
HP:0000940	Abnormal diaphysis morphology	124583	CANT1	OMIM:251450
HP:0000940	Abnormal diaphysis morphology	124583	CANT1	OMIM:617719
HP:0000940	Abnormal diaphysis morphology	3417	IDH1	ORPHA:99646
HP:0000940	Abnormal diaphysis morphology	284403	WDR62	OMIM:604317
HP:0000940	Abnormal diaphysis morphology	4052	LTBP1	OMIM:619451
HP:0000940	Abnormal diaphysis morphology	6137	RPL13	OMIM:618728
HP:0000940	Abnormal diaphysis morphology	64131	XYLT1	OMIM:615777
HP:0000940	Abnormal diaphysis morphology	3248	HPGD	ORPHA:2796
HP:0000940	Abnormal diaphysis morphology	6578	SLCO2A1	ORPHA:2796
HP:0000940	Abnormal diaphysis morphology	26123	TCTN3	ORPHA:2753
HP:0000940	Abnormal diaphysis morphology	5442	POLRMT	OMIM:619743
HP:0000940	Abnormal diaphysis morphology	23594	ORC6	OMIM:613803
HP:0000940	Abnormal diaphysis morphology	64682	ANAPC1	ORPHA:221008
HP:0000940	Abnormal diaphysis morphology	1576	CYP3A4	OMIM:619073
HP:0000940	Abnormal diaphysis morphology	4921	DDR2	OMIM:271665
HP:0000940	Abnormal diaphysis morphology	8074	FGF23	ORPHA:89937
HP:0000940	Abnormal diaphysis morphology	55325	UFSP2	OMIM:617974
HP:0000940	Abnormal diaphysis morphology	9060	PAPSS2	OMIM:612847
HP:0000940	Abnormal diaphysis morphology	65992	DDRGK1	ORPHA:93352
HP:0000940	Abnormal diaphysis morphology	51360	MBTPS2	OMIM:301014
HP:0000940	Abnormal diaphysis morphology	249	ALPL	OMIM:241500
HP:0000940	Abnormal diaphysis morphology	249	ALPL	OMIM:241510
HP:0000940	Abnormal diaphysis morphology	8318	CDC45	OMIM:617063
HP:0000940	Abnormal diaphysis morphology	1962	EHHADH	OMIM:615605
HP:0000940	Abnormal diaphysis morphology	9321	TRIP11	OMIM:200600
HP:0000940	Abnormal diaphysis morphology	4318	MMP9	OMIM:613073
HP:0000940	Abnormal diaphysis morphology	6569	SLC34A1	ORPHA:157215
HP:0000940	Abnormal diaphysis morphology	11014	KDELR2	OMIM:619131
HP:0000940	Abnormal diaphysis morphology	10491	CRTAP	OMIM:610682
HP:0000940	Abnormal diaphysis morphology	372	ARCN1	OMIM:617164
HP:0000940	Abnormal diaphysis morphology	54	ACP5	ORPHA:1855
HP:0000940	Abnormal diaphysis morphology	121340	SP7	OMIM:613849
HP:0000940	Abnormal diaphysis morphology	79659	DYNC2H1	OMIM:613091
HP:0000940	Abnormal diaphysis morphology	1300	COL10A1	OMIM:156500
HP:0000940	Abnormal diaphysis morphology	1300	COL10A1	ORPHA:174
HP:0000940	Abnormal diaphysis morphology	5447	POR	OMIM:201750
HP:0000940	Abnormal diaphysis morphology	5447	POR	ORPHA:95699
HP:0000940	Abnormal diaphysis morphology	5447	POR	OMIM:207410
HP:0000940	Abnormal diaphysis morphology	55503	TRPV6	OMIM:618188
HP:0000940	Abnormal diaphysis morphology	5593	PRKG2	OMIM:619638
HP:0000940	Abnormal diaphysis morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000940	Abnormal diaphysis morphology	89970	RSPRY1	OMIM:616723
HP:0000940	Abnormal diaphysis morphology	5352	PLOD2	OMIM:609220
HP:0000940	Abnormal diaphysis morphology	4148	MATN3	OMIM:608728
HP:0000940	Abnormal diaphysis morphology	91754	NEK9	OMIM:617022
HP:0000940	Abnormal diaphysis morphology	91179	SCARF2	OMIM:600920
HP:0000940	Abnormal diaphysis morphology	2263	FGFR2	OMIM:207410
HP:0000940	Abnormal diaphysis morphology	3911	LAMA5	OMIM:620076
HP:0000940	Abnormal diaphysis morphology	1301	COL11A1	ORPHA:440354
HP:0000940	Abnormal diaphysis morphology	7476	WNT7A	OMIM:228930
HP:0000940	Abnormal diaphysis morphology	7476	WNT7A	OMIM:276820
HP:0000940	Abnormal diaphysis morphology	4125	MAN2B1	OMIM:248500
HP:0000940	Abnormal diaphysis morphology	25885	POLR1A	OMIM:616462
HP:0000940	Abnormal diaphysis morphology	55603	TENT5A	OMIM:617952
HP:0000940	Abnormal diaphysis morphology	727857	BHLHA9	ORPHA:3329
HP:0000940	Abnormal diaphysis morphology	284086	NEK8	OMIM:615415
HP:0000940	Abnormal diaphysis morphology	9939	RBM8A	OMIM:274000
HP:0000940	Abnormal diaphysis morphology	166929	SGMS2	OMIM:126550
HP:0000940	Abnormal diaphysis morphology	55151	TMEM38B	OMIM:615066
HP:0000940	Abnormal diaphysis morphology	25871	NEPRO	OMIM:618853
HP:0000940	Abnormal diaphysis morphology	8792	TNFRSF11A	OMIM:602080
HP:0000940	Abnormal diaphysis morphology	649	BMP1	OMIM:614856
HP:0000940	Abnormal diaphysis morphology	3930	LBR	OMIM:618019
HP:0000940	Abnormal diaphysis morphology	55112	DYNC2I1	OMIM:615503
HP:0000940	Abnormal diaphysis morphology	4322	MMP13	OMIM:602111
HP:0000940	Abnormal diaphysis morphology	4322	MMP13	ORPHA:93356
HP:0000940	Abnormal diaphysis morphology	2261	FGFR3	OMIM:616482
HP:0000940	Abnormal diaphysis morphology	2261	FGFR3	ORPHA:85165
HP:0000940	Abnormal diaphysis morphology	65250	CPLANE1	OMIM:277170
HP:0000940	Abnormal diaphysis morphology	1184	CLCN5	OMIM:300554
HP:0000940	Abnormal diaphysis morphology	1184	CLCN5	OMIM:300009
HP:0000940	Abnormal diaphysis morphology	142680	SLC34A3	OMIM:241530
HP:0000940	Abnormal diaphysis morphology	9158	FIBP	ORPHA:500095
HP:0000940	Abnormal diaphysis morphology	1594	CYP27B1	ORPHA:289157
HP:0000940	Abnormal diaphysis morphology	1594	CYP27B1	OMIM:264700
HP:0000940	Abnormal diaphysis morphology	120227	CYP2R1	ORPHA:289157
HP:0000940	Abnormal diaphysis morphology	120227	CYP2R1	OMIM:600081
HP:0000940	Abnormal diaphysis morphology	2335	FN1	ORPHA:93315
HP:0000940	Abnormal diaphysis morphology	1280	COL2A1	ORPHA:93315
HP:0000940	Abnormal diaphysis morphology	1280	COL2A1	OMIM:156550
HP:0000940	Abnormal diaphysis morphology	23314	SATB2	ORPHA:251028
HP:0000940	Abnormal diaphysis morphology	1277	COL1A1	OMIM:259420
HP:0000940	Abnormal diaphysis morphology	1277	COL1A1	OMIM:114000
HP:0000940	Abnormal diaphysis morphology	1277	COL1A1	OMIM:166210
HP:0000940	Abnormal diaphysis morphology	1278	COL1A2	OMIM:259420
HP:0000940	Abnormal diaphysis morphology	1278	COL1A2	OMIM:166210
HP:0000940	Abnormal diaphysis morphology	6473	SHOX	OMIM:127300
HP:0000940	Abnormal diaphysis morphology	6473	SHOX	ORPHA:314795
HP:0000940	Abnormal diaphysis morphology	6473	SHOX	ORPHA:240
HP:0000940	Abnormal diaphysis morphology	6662	SOX9	ORPHA:140
HP:0000940	Abnormal diaphysis morphology	6662	SOX9	OMIM:114290
HP:0000940	Abnormal diaphysis morphology	5159	PDGFRB	OMIM:601812
HP:0000940	Abnormal diaphysis morphology	22858	CILK1	OMIM:612651
HP:0000940	Abnormal diaphysis morphology	64093	SMOC1	OMIM:206920
HP:0000940	Abnormal diaphysis morphology	64093	SMOC1	ORPHA:1106
HP:0000940	Abnormal diaphysis morphology	4041	LRP5	OMIM:259770
HP:0000940	Abnormal diaphysis morphology	388015	RTL1	ORPHA:96334
HP:0000940	Abnormal diaphysis morphology	8788	DLK1	ORPHA:96334
HP:0000940	Abnormal diaphysis morphology	55384	MEG3	ORPHA:96334
HP:0000940	Abnormal diaphysis morphology	2316	FLNA	OMIM:304120
HP:0000940	Abnormal diaphysis morphology	2316	FLNA	OMIM:309350
HP:0000940	Abnormal diaphysis morphology	64175	P3H1	OMIM:610915
HP:0000940	Abnormal diaphysis morphology	54808	DYM	OMIM:223800
HP:0000940	Abnormal diaphysis morphology	5251	PHEX	OMIM:307800
HP:0000940	Abnormal diaphysis morphology	6023	RMRP	ORPHA:175
HP:0000940	Abnormal diaphysis morphology	1758	DMP1	ORPHA:289176
HP:0000940	Abnormal diaphysis morphology	5167	ENPP1	ORPHA:289176
HP:0000940	Abnormal diaphysis morphology	8218	CLTCL1	ORPHA:453510
HP:0000940	Abnormal diaphysis morphology	9469	CHST3	OMIM:143095
HP:0000940	Abnormal diaphysis morphology	92344	GORAB	OMIM:231070
HP:0000940	Abnormal diaphysis morphology	2317	FLNB	OMIM:108721
HP:0000940	Abnormal diaphysis morphology	2317	FLNB	OMIM:108720
HP:0000940	Abnormal diaphysis morphology	1302	COL11A2	ORPHA:1427
HP:0000940	Abnormal diaphysis morphology	3977	LIFR	OMIM:601559
HP:0000940	Abnormal diaphysis morphology	7421	VDR	OMIM:277440
HP:0000940	Abnormal diaphysis morphology	5116	PCNT	OMIM:210720
HP:0000940	Abnormal diaphysis morphology	5130	PCYT1A	OMIM:608940
HP:0000940	Abnormal diaphysis morphology	26040	SETBP1	OMIM:269150
HP:0000940	Abnormal diaphysis morphology	26040	SETBP1	ORPHA:798
HP:0000940	Abnormal diaphysis morphology	871	SERPINH1	OMIM:613848
HP:0000940	Abnormal diaphysis morphology	2737	GLI3	ORPHA:672
HP:0000940	Abnormal diaphysis morphology	4920	ROR2	OMIM:268310
HP:0000940	Abnormal diaphysis morphology	4882	NPR2	OMIM:602875
HP:0000940	Abnormal diaphysis morphology	91147	TMEM67	OMIM:602152
HP:0000940	Abnormal diaphysis morphology	3549	IHH	OMIM:607778
HP:0000940	Abnormal diaphysis morphology	567	B2M	OMIM:241600
HP:0000940	Abnormal diaphysis morphology	9401	RECQL4	OMIM:218600
HP:0000940	Abnormal diaphysis morphology	57020	VPS35L	OMIM:619135
HP:0000940	Abnormal diaphysis morphology	54101	RIPK4	OMIM:263650
HP:0000940	Abnormal diaphysis morphology	112752	IFT43	OMIM:617866
HP:0000940	Abnormal diaphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0000940	Abnormal diaphysis morphology	3207	HOXA11	OMIM:605432
HP:0000940	Abnormal diaphysis morphology	1436	CSF1R	OMIM:618476
HP:0000940	Abnormal diaphysis morphology	2778	GNAS	ORPHA:94089
HP:0000940	Abnormal diaphysis morphology	8675	STX16	ORPHA:94089
HP:0000940	Abnormal diaphysis morphology	760	CA2	OMIM:259730
HP:0000940	Abnormal diaphysis morphology	8600	TNFSF11	OMIM:259710
HP:0000940	Abnormal diaphysis morphology	50964	SOST	OMIM:122860
HP:0000940	Abnormal diaphysis morphology	7040	TGFB1	OMIM:131300
HP:0000940	Abnormal diaphysis morphology	83550	GPR101	ORPHA:963
HP:0000940	Abnormal diaphysis morphology	9049	AIP	ORPHA:963
HP:0000940	Abnormal diaphysis morphology	9851	KIAA0753	OMIM:619479
HP:0000940	Abnormal diaphysis morphology	340419	RSPO2	OMIM:618022
HP:0000940	Abnormal diaphysis morphology	3187	HNRNPH1	OMIM:620083
HP:0000940	Abnormal diaphysis morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000940	Abnormal diaphysis morphology	9896	FIG4	ORPHA:3472
HP:0000940	Abnormal diaphysis morphology	55697	VAC14	ORPHA:3472
HP:0000940	Abnormal diaphysis morphology	9791	PTDSS1	OMIM:151050
HP:0000940	Abnormal diaphysis morphology	4038	LRP4	ORPHA:3152
HP:0000940	Abnormal diaphysis morphology	3423	IDS	ORPHA:217085
HP:0000940	Abnormal diaphysis morphology	3423	IDS	ORPHA:217093
HP:0000940	Abnormal diaphysis morphology	3636	INPPL1	ORPHA:3144
HP:0000940	Abnormal diaphysis morphology	23169	SLC35D1	ORPHA:3144
HP:0000940	Abnormal diaphysis morphology	203859	ANO5	OMIM:166260
HP:0000940	Abnormal diaphysis morphology	4982	TNFRSF11B	OMIM:239000
HP:0000940	Abnormal diaphysis morphology	8200	GDF5	OMIM:201250
HP:0000940	Abnormal diaphysis morphology	57728	WDR19	OMIM:614376
HP:0000940	Abnormal diaphysis morphology	633	BGN	OMIM:300106
HP:0000940	Abnormal diaphysis morphology	6885	MAP3K7	ORPHA:1826
HP:0000940	Abnormal diaphysis morphology	6678	SPARC	OMIM:616507
HP:0000940	Abnormal diaphysis morphology	11128	POLR3A	ORPHA:3455
HP:0000940	Abnormal diaphysis morphology	3339	HSPG2	OMIM:255800
HP:0000940	Abnormal diaphysis morphology	79879	CCDC134	OMIM:619795
HP:0000940	Abnormal diaphysis morphology	9871	SEC24D	ORPHA:2050
HP:0000940	Abnormal diaphysis morphology	5034	P4HB	ORPHA:2050
HP:0000940	Abnormal diaphysis morphology	10312	TCIRG1	ORPHA:667
HP:0000940	Abnormal diaphysis morphology	29887	SNX10	ORPHA:667
HP:0000940	Abnormal diaphysis morphology	5781	PTPN11	OMIM:156250
HP:0000940	Abnormal diaphysis morphology	613	BCR	ORPHA:261330
HP:0000940	Abnormal diaphysis morphology	1399	CRKL	ORPHA:261330
HP:0000940	Abnormal diaphysis morphology	5594	MAPK1	ORPHA:261330
HP:0000940	Abnormal diaphysis morphology	2201	FBN2	OMIM:121050
HP:0000940	Abnormal diaphysis morphology	51259	TMEM216	OMIM:603194
HP:0000940	Abnormal diaphysis morphology	51259	TMEM216	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	56975	FAM20C	OMIM:259775
HP:0000940	Abnormal diaphysis morphology	5831	PYCR1	OMIM:612940
HP:0000940	Abnormal diaphysis morphology	90993	CREB3L1	OMIM:616229
HP:0000940	Abnormal diaphysis morphology	84314	TMEM107	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79867	TCTN2	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	80776	B9D2	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79600	TCTN1	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	57096	RPGRIP1	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79848	CSPP1	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	80184	CEP290	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	80184	CEP290	OMIM:611134
HP:0000940	Abnormal diaphysis morphology	57545	CC2D2A	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79583	TMEM231	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79770	TXNDC15	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	79770	TXNDC15	OMIM:619879
HP:0000940	Abnormal diaphysis morphology	27077	B9D1	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	54903	MKS1	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	54903	MKS1	OMIM:249000
HP:0000940	Abnormal diaphysis morphology	65062	TMEM237	ORPHA:564
HP:0000940	Abnormal diaphysis morphology	4784	NFIX	ORPHA:561
HP:0000940	Abnormal diaphysis morphology	5745	PTH1R	ORPHA:50945
HP:0000940	Abnormal diaphysis morphology	5745	PTH1R	OMIM:156400
HP:0000940	Abnormal diaphysis morphology	11285	B4GALT7	OMIM:130070
HP:0000940	Abnormal diaphysis morphology	3572	IL6ST	OMIM:619751
HP:0000940	Abnormal diaphysis morphology	658	BMPR1B	ORPHA:2098
HP:0000940	Abnormal diaphysis morphology	60681	FKBP10	ORPHA:2771
HP:0000940	Abnormal diaphysis morphology	157570	ESCO2	ORPHA:3103
HP:0000940	Abnormal diaphysis morphology	285590	SH3PXD2B	OMIM:249420
HP:0000940	Abnormal diaphysis morphology	6514	SLC2A2	ORPHA:2088
HP:0000940	Abnormal diaphysis morphology	2260	FGFR1	OMIM:166250
HP:0000940	Abnormal diaphysis morphology	57539	WDR35	OMIM:614091
HP:0000940	Abnormal diaphysis morphology	57003	CCDC47	OMIM:618268
HP:0000940	Abnormal diaphysis morphology	284058	KANSL1	ORPHA:363965
HP:0000940	Abnormal diaphysis morphology	284058	KANSL1	ORPHA:363958
HP:0000940	Abnormal diaphysis morphology	79639	TMEM53	OMIM:619727
HP:0000940	Abnormal diaphysis morphology	55858	TMEM165	OMIM:614727
HP:0000940	Abnormal diaphysis morphology	161742	SPRED1	ORPHA:137605
HP:0000940	Abnormal diaphysis morphology	6916	TBXAS1	OMIM:231095
HP:0000940	Abnormal diaphysis morphology	4763	NF1	ORPHA:97685
HP:0000940	Abnormal diaphysis morphology	63901	FAM111A	OMIM:127000
HP:0000940	Abnormal diaphysis morphology	4507	MTAP	OMIM:112250
HP:0000940	Abnormal diaphysis morphology	6905	TBCE	ORPHA:93324
HP:0000940	Abnormal diaphysis morphology	1311	COMP	ORPHA:750
HP:0000941	Short diaphyses	2316	FLNA	ORPHA:1826
HP:0000941	Short diaphyses	6885	MAP3K7	ORPHA:1826
HP:0008428	Vertebral clefting	6660	SOX5	ORPHA:313892
HP:0008428	Vertebral clefting	2294	FOXF1	OMIM:265380
HP:0008428	Vertebral clefting	10735	STAG2	OMIM:301043
HP:0008428	Vertebral clefting	10526	IPO8	OMIM:619472
HP:0008428	Vertebral clefting	579	NKX3-2	OMIM:613330
HP:0008428	Vertebral clefting	134701	RIPPLY2	OMIM:616566
HP:0008428	Vertebral clefting	79087	ALG12	OMIM:607143
HP:0008428	Vertebral clefting	55593	OTUD5	OMIM:301056
HP:0008428	Vertebral clefting	51360	MBTPS2	OMIM:308205
HP:0008428	Vertebral clefting	23498	HAAO	OMIM:617660
HP:0008428	Vertebral clefting	8085	KMT2D	ORPHA:2322
HP:0008428	Vertebral clefting	7403	KDM6A	ORPHA:2322
HP:0008428	Vertebral clefting	51729	WBP11	OMIM:619227
HP:0008428	Vertebral clefting	4990	SIX6	OMIM:206900
HP:0008428	Vertebral clefting	6657	SOX2	OMIM:206900
HP:0008428	Vertebral clefting	6911	TBX6	OMIM:122600
HP:0008428	Vertebral clefting	9382	COG1	OMIM:611209
HP:0008428	Vertebral clefting	9382	COG1	ORPHA:263508
HP:0008428	Vertebral clefting	6309	SC5D	OMIM:607330
HP:0008428	Vertebral clefting	9361	LONP1	OMIM:600373
HP:0008428	Vertebral clefting	9361	LONP1	ORPHA:1458
HP:0008428	Vertebral clefting	1836	SLC26A2	OMIM:256050
HP:0008428	Vertebral clefting	84068	SLC10A7	OMIM:618363
HP:0008428	Vertebral clefting	9469	CHST3	OMIM:143095
HP:0008428	Vertebral clefting	55699	IARS2	OMIM:616007
HP:0008428	Vertebral clefting	8854	ALDH1A2	OMIM:620025
HP:0008428	Vertebral clefting	3339	HSPG2	OMIM:255800
HP:0008428	Vertebral clefting	1302	COL11A2	ORPHA:1427
HP:0008428	Vertebral clefting	1302	COL11A2	OMIM:215150
HP:0008428	Vertebral clefting	59341	TRPV4	ORPHA:93314
HP:0008428	Vertebral clefting	415	ARSL	ORPHA:79345
HP:0008428	Vertebral clefting	5191	PEX7	OMIM:215100
HP:0008428	Vertebral clefting	2317	FLNB	OMIM:108720
HP:0008428	Vertebral clefting	2317	FLNB	ORPHA:56305
HP:0008428	Vertebral clefting	2317	FLNB	ORPHA:1190
HP:0008428	Vertebral clefting	1280	COL2A1	ORPHA:485
HP:0008428	Vertebral clefting	1280	COL2A1	OMIM:156550
HP:0008428	Vertebral clefting	8443	GNPAT	OMIM:222765
HP:0008428	Vertebral clefting	9321	TRIP11	OMIM:184260
HP:0008428	Vertebral clefting	55790	CSGALNACT1	OMIM:618870
HP:0008428	Vertebral clefting	3313	HSPA9	OMIM:616854
HP:0008428	Vertebral clefting	3911	LAMA5	OMIM:620076
HP:0008428	Vertebral clefting	5885	RAD21	OMIM:614701
HP:0008428	Vertebral clefting	249	ALPL	OMIM:241500
HP:0008428	Vertebral clefting	145873	MESP2	OMIM:608681
HP:0008428	Vertebral clefting	6862	TBXT	OMIM:615709
HP:0008428	Vertebral clefting	1146	CHRNG	OMIM:265000
HP:0000943	Dysostosis multiplex	84572	GNPTG	OMIM:252605
HP:0000943	Dysostosis multiplex	65082	VPS33A	ORPHA:505248
HP:0000943	Dysostosis multiplex	65082	VPS33A	OMIM:617303
HP:0000943	Dysostosis multiplex	6448	SGSH	OMIM:252900
HP:0000943	Dysostosis multiplex	3423	IDS	OMIM:309900
HP:0000943	Dysostosis multiplex	4125	MAN2B1	OMIM:248500
HP:0000943	Dysostosis multiplex	4125	MAN2B1	ORPHA:309282
HP:0000943	Dysostosis multiplex	2517	FUCA1	OMIM:230000
HP:0000943	Dysostosis multiplex	2517	FUCA1	ORPHA:349
HP:0000943	Dysostosis multiplex	2588	GALNS	OMIM:253000
HP:0000943	Dysostosis multiplex	2990	GUSB	OMIM:253220
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:230500
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:230600
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:253010
HP:0000943	Dysostosis multiplex	2720	GLB1	ORPHA:79255
HP:0000943	Dysostosis multiplex	2260	FGFR1	ORPHA:2396
HP:0000943	Dysostosis multiplex	3845	KRAS	ORPHA:2396
HP:0000943	Dysostosis multiplex	138050	HGSNAT	OMIM:252930
HP:0000943	Dysostosis multiplex	10020	GNE	ORPHA:3166
HP:0000943	Dysostosis multiplex	4758	NEU1	OMIM:256550
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:93399
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:812
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:93400
HP:0000943	Dysostosis multiplex	285362	SUMF1	OMIM:272200
HP:0000943	Dysostosis multiplex	411	ARSB	OMIM:253200
HP:0000943	Dysostosis multiplex	26175	LYSET	OMIM:619345
HP:0000943	Dysostosis multiplex	175	AGA	OMIM:208400
HP:0000943	Dysostosis multiplex	79158	GNPTAB	OMIM:252600
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607014
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607016
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607015
HP:0000943	Dysostosis multiplex	4669	NAGLU	OMIM:252920
HP:0000943	Dysostosis multiplex	2799	GNS	OMIM:252940
HP:0000943	Dysostosis multiplex	5476	CTSA	OMIM:256540
HP:0000944	Abnormal metaphysis morphology	55112	DYNC2I1	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	55112	DYNC2I1	ORPHA:93271
HP:0000944	Abnormal metaphysis morphology	26160	IFT172	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	153241	CEP120	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	57560	IFT80	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	57560	IFT80	ORPHA:93271
HP:0000944	Abnormal metaphysis morphology	51626	DYNC2LI1	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	9742	IFT140	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	89891	DYNC2I2	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	89891	DYNC2I2	ORPHA:93271
HP:0000944	Abnormal metaphysis morphology	79809	TTC21B	ORPHA:474
HP:0000944	Abnormal metaphysis morphology	9871	SEC24D	ORPHA:2050
HP:0000944	Abnormal metaphysis morphology	5034	P4HB	ORPHA:2050
HP:0000944	Abnormal metaphysis morphology	5781	PTPN11	ORPHA:2499
HP:0000944	Abnormal metaphysis morphology	9820	CUL7	ORPHA:2616
HP:0000944	Abnormal metaphysis morphology	23363	OBSL1	ORPHA:2616
HP:0000944	Abnormal metaphysis morphology	83987	CCDC8	ORPHA:2616
HP:0000944	Abnormal metaphysis morphology	55636	CHD7	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	3981	LIG4	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	5896	RAG1	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	5897	RAG2	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	64421	DCLRE1C	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	3575	IL7R	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	3561	IL2RG	ORPHA:39041
HP:0000944	Abnormal metaphysis morphology	6916	TBXAS1	ORPHA:1802
HP:0000944	Abnormal metaphysis morphology	1186	CLCN7	ORPHA:667
HP:0000944	Abnormal metaphysis morphology	1186	CLCN7	ORPHA:53
HP:0000944	Abnormal metaphysis morphology	29887	SNX10	ORPHA:667
HP:0000944	Abnormal metaphysis morphology	8600	TNFSF11	ORPHA:667
HP:0000944	Abnormal metaphysis morphology	23630	KCNE5	ORPHA:86818
HP:0000944	Abnormal metaphysis morphology	2182	ACSL4	ORPHA:86818
HP:0000944	Abnormal metaphysis morphology	9949	AMMECR1	ORPHA:86818
HP:0000944	Abnormal metaphysis morphology	57539	WDR35	ORPHA:93271
HP:0000944	Abnormal metaphysis morphology	57539	WDR35	ORPHA:1515
HP:0000944	Abnormal metaphysis morphology	3764	KCNJ8	ORPHA:1517
HP:0000944	Abnormal metaphysis morphology	112752	IFT43	ORPHA:1515
HP:0000944	Abnormal metaphysis morphology	51098	IFT52	ORPHA:1515
HP:0000944	Abnormal metaphysis morphology	55764	IFT122	ORPHA:1515
HP:0000944	Abnormal metaphysis morphology	4952	OCRL	ORPHA:534
HP:0000944	Abnormal metaphysis morphology	64327	LMBR1	ORPHA:931
HP:0000944	Abnormal metaphysis morphology	4854	NOTCH3	ORPHA:2591
HP:0000944	Abnormal metaphysis morphology	5159	PDGFRB	ORPHA:2591
HP:0000944	Abnormal metaphysis morphology	3418	IDH2	ORPHA:296
HP:0000944	Abnormal metaphysis morphology	23592	LEMD3	ORPHA:1306
HP:0000944	Abnormal metaphysis morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000944	Abnormal metaphysis morphology	64324	NSD1	ORPHA:3447
HP:0000944	Abnormal metaphysis morphology	23512	SUZ12	ORPHA:3447
HP:0000944	Abnormal metaphysis morphology	6473	SHOX	ORPHA:240
HP:0000944	Abnormal metaphysis morphology	10082	GPC6	ORPHA:93329
HP:0000944	Abnormal metaphysis morphology	84168	ANTXR1	ORPHA:2067
HP:0000944	Abnormal metaphysis morphology	2200	FBN1	ORPHA:2462
HP:0000944	Abnormal metaphysis morphology	4089	SMAD4	ORPHA:2588
HP:0000944	Abnormal metaphysis morphology	1576	CYP3A4	OMIM:619073
HP:0000944	Abnormal metaphysis morphology	4921	DDR2	OMIM:271665
HP:0000944	Abnormal metaphysis morphology	9791	PTDSS1	OMIM:151050
HP:0000944	Abnormal metaphysis morphology	65992	DDRGK1	OMIM:602557
HP:0000944	Abnormal metaphysis morphology	65992	DDRGK1	ORPHA:93352
HP:0000944	Abnormal metaphysis morphology	11285	B4GALT7	OMIM:130070
HP:0000944	Abnormal metaphysis morphology	4882	NPR2	OMIM:602875
HP:0000944	Abnormal metaphysis morphology	55699	IARS2	OMIM:616007
HP:0000944	Abnormal metaphysis morphology	23233	EXOC6B	ORPHA:93359
HP:0000944	Abnormal metaphysis morphology	126792	B3GALT6	ORPHA:93359
HP:0000944	Abnormal metaphysis morphology	126792	B3GALT6	OMIM:271640
HP:0000944	Abnormal metaphysis morphology	126792	B3GALT6	OMIM:615349
HP:0000944	Abnormal metaphysis morphology	6885	MAP3K7	OMIM:617137
HP:0000944	Abnormal metaphysis morphology	5593	PRKG2	OMIM:619636
HP:0000944	Abnormal metaphysis morphology	4796	TONSL	ORPHA:93357
HP:0000944	Abnormal metaphysis morphology	145258	GSC	OMIM:602471
HP:0000944	Abnormal metaphysis morphology	79796	ALG9	ORPHA:79328
HP:0000944	Abnormal metaphysis morphology	1302	COL11A2	OMIM:215150
HP:0000944	Abnormal metaphysis morphology	25839	COG4	OMIM:618150
HP:0000944	Abnormal metaphysis morphology	285590	SH3PXD2B	OMIM:249420
HP:0000944	Abnormal metaphysis morphology	202018	TAPT1	OMIM:616897
HP:0000944	Abnormal metaphysis morphology	2067	ERCC1	OMIM:610758
HP:0000944	Abnormal metaphysis morphology	56172	ANKH	OMIM:123000
HP:0000944	Abnormal metaphysis morphology	54187	NANS	OMIM:610442
HP:0000944	Abnormal metaphysis morphology	5191	PEX7	OMIM:215100
HP:0000944	Abnormal metaphysis morphology	64131	XYLT1	ORPHA:370930
HP:0000944	Abnormal metaphysis morphology	28962	OSTM1	OMIM:259720
HP:0000944	Abnormal metaphysis morphology	9896	FIG4	ORPHA:3472
HP:0000944	Abnormal metaphysis morphology	55697	VAC14	ORPHA:3472
HP:0000944	Abnormal metaphysis morphology	8726	EED	OMIM:617561
HP:0000944	Abnormal metaphysis morphology	91252	SLC39A13	OMIM:612350
HP:0000944	Abnormal metaphysis morphology	2316	FLNA	OMIM:309350
HP:0000944	Abnormal metaphysis morphology	5116	PCNT	OMIM:210720
HP:0000944	Abnormal metaphysis morphology	63901	FAM111A	OMIM:602361
HP:0000944	Abnormal metaphysis morphology	1497	CTNS	OMIM:219800
HP:0000944	Abnormal metaphysis morphology	5307	PITX1	OMIM:186550
HP:0000944	Abnormal metaphysis morphology	286053	NSMCE2	OMIM:617253
HP:0000944	Abnormal metaphysis morphology	8838	CCN6	OMIM:208230
HP:0000944	Abnormal metaphysis morphology	2588	GALNS	OMIM:253000
HP:0000944	Abnormal metaphysis morphology	411	ARSB	OMIM:253200
HP:0000944	Abnormal metaphysis morphology	10060	ABCC9	OMIM:239850
HP:0000944	Abnormal metaphysis morphology	1436	CSF1R	OMIM:618476
HP:0000944	Abnormal metaphysis morphology	9321	TRIP11	OMIM:184260
HP:0000944	Abnormal metaphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0000944	Abnormal metaphysis morphology	65082	VPS33A	OMIM:617303
HP:0000944	Abnormal metaphysis morphology	4041	LRP5	OMIM:259770
HP:0000944	Abnormal metaphysis morphology	4041	LRP5	ORPHA:2788
HP:0000944	Abnormal metaphysis morphology	79158	GNPTAB	OMIM:252500
HP:0000944	Abnormal metaphysis morphology	176	ACAN	OMIM:612813
HP:0000944	Abnormal metaphysis morphology	124583	CANT1	OMIM:251450
HP:0000944	Abnormal metaphysis morphology	1301	COL11A1	ORPHA:440354
HP:0000944	Abnormal metaphysis morphology	3187	HNRNPH1	OMIM:620083
HP:0000944	Abnormal metaphysis morphology	90	ACVR1	OMIM:135100
HP:0000944	Abnormal metaphysis morphology	6497	SKI	OMIM:182212
HP:0000944	Abnormal metaphysis morphology	3339	HSPG2	OMIM:255800
HP:0000944	Abnormal metaphysis morphology	4313	MMP2	OMIM:259600
HP:0000944	Abnormal metaphysis morphology	2131	EXT1	ORPHA:321
HP:0000944	Abnormal metaphysis morphology	2132	EXT2	ORPHA:321
HP:0000944	Abnormal metaphysis morphology	372	ARCN1	OMIM:617164
HP:0000944	Abnormal metaphysis morphology	2720	GLB1	OMIM:253010
HP:0000944	Abnormal metaphysis morphology	57728	WDR19	OMIM:614376
HP:0000944	Abnormal metaphysis morphology	3425	IDUA	OMIM:607014
HP:0000944	Abnormal metaphysis morphology	3636	INPPL1	OMIM:258480
HP:0000944	Abnormal metaphysis morphology	249	ALPL	OMIM:241500
HP:0000944	Abnormal metaphysis morphology	25871	NEPRO	OMIM:618853
HP:0000944	Abnormal metaphysis morphology	1184	CLCN5	OMIM:300554
HP:0000944	Abnormal metaphysis morphology	1184	CLCN5	OMIM:300009
HP:0000944	Abnormal metaphysis morphology	142680	SLC34A3	OMIM:241530
HP:0000944	Abnormal metaphysis morphology	54870	QRICH1	OMIM:617982
HP:0000944	Abnormal metaphysis morphology	120227	CYP2R1	OMIM:600081
HP:0000944	Abnormal metaphysis morphology	23169	SLC35D1	OMIM:269250
HP:0000944	Abnormal metaphysis morphology	23387	SIK3	OMIM:618162
HP:0000944	Abnormal metaphysis morphology	9663	LPIN2	ORPHA:77297
HP:0000944	Abnormal metaphysis morphology	26503	SLC17A5	OMIM:269920
HP:0000944	Abnormal metaphysis morphology	633	BGN	OMIM:300106
HP:0000944	Abnormal metaphysis morphology	1594	CYP27B1	OMIM:264700
HP:0000944	Abnormal metaphysis morphology	83452	RAB33B	OMIM:615222
HP:0000944	Abnormal metaphysis morphology	5830	PEX5	OMIM:616716
HP:0000944	Abnormal metaphysis morphology	846	CASR	OMIM:239200
HP:0000944	Abnormal metaphysis morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000944	Abnormal metaphysis morphology	9469	CHST3	OMIM:245600
HP:0000944	Abnormal metaphysis morphology	26229	B3GAT3	OMIM:245600
HP:0000944	Abnormal metaphysis morphology	6399	TRAPPC2	ORPHA:93284
HP:0000944	Abnormal metaphysis morphology	79848	CSPP1	ORPHA:397715
HP:0000944	Abnormal metaphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0000944	Abnormal metaphysis morphology	755	CFAP410	OMIM:602271
HP:0000944	Abnormal metaphysis morphology	6137	RPL13	OMIM:618728
HP:0000944	Abnormal metaphysis morphology	5251	PHEX	ORPHA:89936
HP:0000944	Abnormal metaphysis morphology	59341	TRPV4	ORPHA:93314
HP:0000944	Abnormal metaphysis morphology	2335	FN1	OMIM:184255
HP:0000944	Abnormal metaphysis morphology	2335	FN1	ORPHA:93315
HP:0000944	Abnormal metaphysis morphology	2778	GNAS	ORPHA:94089
HP:0000944	Abnormal metaphysis morphology	8675	STX16	ORPHA:94089
HP:0000944	Abnormal metaphysis morphology	2146	EZH2	OMIM:277590
HP:0000944	Abnormal metaphysis morphology	6638	SNRPN	ORPHA:177910
HP:0000944	Abnormal metaphysis morphology	4692	NDN	ORPHA:177910
HP:0000944	Abnormal metaphysis morphology	54551	MAGEL2	ORPHA:177910
HP:0000944	Abnormal metaphysis morphology	9401	RECQL4	ORPHA:221016
HP:0000944	Abnormal metaphysis morphology	4318	MMP9	ORPHA:1040
HP:0000944	Abnormal metaphysis morphology	64682	ANAPC1	ORPHA:221008
HP:0000944	Abnormal metaphysis morphology	1311	COMP	OMIM:177170
HP:0000944	Abnormal metaphysis morphology	1062	CENPE	OMIM:616051
HP:0000944	Abnormal metaphysis morphology	658	BMPR1B	OMIM:609441
HP:0000944	Abnormal metaphysis morphology	4148	MATN3	OMIM:608728
HP:0000944	Abnormal metaphysis morphology	79659	DYNC2H1	OMIM:613091
HP:0000944	Abnormal metaphysis morphology	538	ATP7A	OMIM:309400
HP:0000944	Abnormal metaphysis morphology	388015	RTL1	ORPHA:96334
HP:0000944	Abnormal metaphysis morphology	8788	DLK1	ORPHA:96334
HP:0000944	Abnormal metaphysis morphology	55384	MEG3	ORPHA:96334
HP:0000944	Abnormal metaphysis morphology	5130	PCYT1A	ORPHA:85167
HP:0000944	Abnormal metaphysis morphology	55503	TRPV6	OMIM:618188
HP:0000944	Abnormal metaphysis morphology	3977	LIFR	OMIM:601559
HP:0000944	Abnormal metaphysis morphology	3835	KIF22	OMIM:603546
HP:0000944	Abnormal metaphysis morphology	9131	AIFM1	ORPHA:83629
HP:0000944	Abnormal metaphysis morphology	5745	PTH1R	OMIM:156400
HP:0000944	Abnormal metaphysis morphology	51119	SBDS	OMIM:260400
HP:0000944	Abnormal metaphysis morphology	51119	SBDS	ORPHA:811
HP:0000944	Abnormal metaphysis morphology	6729	SRP54	OMIM:260400
HP:0000944	Abnormal metaphysis morphology	6729	SRP54	ORPHA:811
HP:0000944	Abnormal metaphysis morphology	2879	GPX4	ORPHA:93317
HP:0000944	Abnormal metaphysis morphology	2261	FGFR3	ORPHA:85165
HP:0000944	Abnormal metaphysis morphology	10195	ALG3	ORPHA:79321
HP:0000944	Abnormal metaphysis morphology	79631	EFL1	ORPHA:811
HP:0000944	Abnormal metaphysis morphology	10013	HDAC6	OMIM:300863
HP:0000944	Abnormal metaphysis morphology	51025	PAM16	OMIM:613320
HP:0000944	Abnormal metaphysis morphology	649	BMP1	OMIM:614856
HP:0000944	Abnormal metaphysis morphology	26040	SETBP1	OMIM:269150
HP:0000944	Abnormal metaphysis morphology	5921	RASA1	ORPHA:90307
HP:0000944	Abnormal metaphysis morphology	7157	TP53	ORPHA:668
HP:0000944	Abnormal metaphysis morphology	5925	RB1	ORPHA:668
HP:0000944	Abnormal metaphysis morphology	11200	CHEK2	ORPHA:668
HP:0000944	Abnormal metaphysis morphology	80232	WDR26	ORPHA:513456
HP:0000944	Abnormal metaphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0000944	Abnormal metaphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0000944	Abnormal metaphysis morphology	3417	IDH1	ORPHA:99646
HP:0000944	Abnormal metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0000944	Abnormal metaphysis morphology	25885	POLR1A	OMIM:616462
HP:0000944	Abnormal metaphysis morphology	100	ADA	OMIM:102700
HP:0000944	Abnormal metaphysis morphology	23761	PISD	OMIM:618889
HP:0000944	Abnormal metaphysis morphology	4507	MTAP	OMIM:112250
HP:0000944	Abnormal metaphysis morphology	9361	LONP1	OMIM:600373
HP:0000944	Abnormal metaphysis morphology	54	ACP5	OMIM:607944
HP:0000944	Abnormal metaphysis morphology	54	ACP5	ORPHA:1855
HP:0000944	Abnormal metaphysis morphology	6023	RMRP	ORPHA:175
HP:0000944	Abnormal metaphysis morphology	6023	RMRP	OMIM:250250
HP:0000944	Abnormal metaphysis morphology	6023	RMRP	OMIM:250460
HP:0000944	Abnormal metaphysis morphology	10940	POP1	OMIM:617396
HP:0000944	Abnormal metaphysis morphology	6424	SFRP4	OMIM:265900
HP:0000944	Abnormal metaphysis morphology	134218	DNAJC21	OMIM:617052
HP:0000944	Abnormal metaphysis morphology	579	NKX3-2	OMIM:613330
HP:0000944	Abnormal metaphysis morphology	79705	LRRK1	OMIM:615198
HP:0000944	Abnormal metaphysis morphology	55325	UFSP2	OMIM:617974
HP:0000944	Abnormal metaphysis morphology	1280	COL2A1	ORPHA:93316
HP:0000944	Abnormal metaphysis morphology	55858	TMEM165	OMIM:614727
HP:0000944	Abnormal metaphysis morphology	10283	CWC27	OMIM:250410
HP:0000944	Abnormal metaphysis morphology	7040	TGFB1	ORPHA:1328
HP:0000944	Abnormal metaphysis morphology	9451	EIF2AK3	ORPHA:1667
HP:0000944	Abnormal metaphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0000944	Abnormal metaphysis morphology	2697	GJA1	OMIM:218400
HP:0000944	Abnormal metaphysis morphology	860	RUNX2	OMIM:156510
HP:0000944	Abnormal metaphysis morphology	2137	EXTL3	OMIM:617425
HP:0000944	Abnormal metaphysis morphology	79639	TMEM53	OMIM:619727
HP:0000944	Abnormal metaphysis morphology	5426	POLE	OMIM:618336
HP:0000944	Abnormal metaphysis morphology	5426	POLE	ORPHA:85173
HP:0000944	Abnormal metaphysis morphology	1028	CDKN1C	OMIM:614732
HP:0000944	Abnormal metaphysis morphology	1028	CDKN1C	ORPHA:85173
HP:0000944	Abnormal metaphysis morphology	3930	LBR	OMIM:618019
HP:0000944	Abnormal metaphysis morphology	4322	MMP13	OMIM:250400
HP:0000944	Abnormal metaphysis morphology	4322	MMP13	ORPHA:2501
HP:0000944	Abnormal metaphysis morphology	54808	DYM	ORPHA:239
HP:0000944	Abnormal metaphysis morphology	7421	VDR	ORPHA:93160
HP:0000944	Abnormal metaphysis morphology	5331	PLCB3	OMIM:618961
HP:0000944	Abnormal metaphysis morphology	64840	PORCN	ORPHA:2092
HP:0000944	Abnormal metaphysis morphology	80169	CTC1	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	26277	TINF2	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	55651	NHP2	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	79650	USB1	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	55135	WRAP53	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	51750	RTEL1	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	4869	NPM1	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	7012	TERC	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	55505	NOP10	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	5073	PARN	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	7015	TERT	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	1736	DKC1	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	7298	TYMS	ORPHA:1775
HP:0000944	Abnormal metaphysis morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000944	Abnormal metaphysis morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000944	Abnormal metaphysis morphology	8792	TNFRSF11A	ORPHA:1782
HP:0000944	Abnormal metaphysis morphology	10312	TCIRG1	ORPHA:1782
HP:0000944	Abnormal metaphysis morphology	55315	SLC29A3	ORPHA:1782
HP:0000944	Abnormal metaphysis morphology	139285	AMER1	ORPHA:2780
HP:0000944	Abnormal metaphysis morphology	4853	NOTCH2	ORPHA:955
HP:0000944	Abnormal metaphysis morphology	9842	PLEKHM1	OMIM:611497
HP:0003015	Flared metaphysis	2146	EZH2	OMIM:277590
HP:0003015	Flared metaphysis	1311	COMP	ORPHA:750
HP:0003015	Flared metaphysis	2261	FGFR3	OMIM:187601
HP:0003015	Flared metaphysis	2261	FGFR3	OMIM:187600
HP:0003015	Flared metaphysis	2261	FGFR3	OMIM:146000
HP:0003015	Flared metaphysis	2261	FGFR3	OMIM:100800
HP:0003015	Flared metaphysis	1576	CYP3A4	OMIM:619073
HP:0003015	Flared metaphysis	4921	DDR2	OMIM:271665
HP:0003015	Flared metaphysis	4322	MMP13	OMIM:602111
HP:0003015	Flared metaphysis	4322	MMP13	ORPHA:93356
HP:0003015	Flared metaphysis	9791	PTDSS1	OMIM:151050
HP:0003015	Flared metaphysis	59341	TRPV4	OMIM:184252
HP:0003015	Flared metaphysis	59341	TRPV4	OMIM:156530
HP:0003015	Flared metaphysis	65992	DDRGK1	OMIM:602557
HP:0003015	Flared metaphysis	65992	DDRGK1	ORPHA:93352
HP:0003015	Flared metaphysis	11285	B4GALT7	OMIM:130070
HP:0003015	Flared metaphysis	4882	NPR2	OMIM:602875
HP:0003015	Flared metaphysis	55699	IARS2	OMIM:616007
HP:0003015	Flared metaphysis	10312	TCIRG1	OMIM:259700
HP:0003015	Flared metaphysis	23233	EXOC6B	ORPHA:93359
HP:0003015	Flared metaphysis	126792	B3GALT6	ORPHA:93359
HP:0003015	Flared metaphysis	126792	B3GALT6	OMIM:271640
HP:0003015	Flared metaphysis	126792	B3GALT6	OMIM:615349
HP:0003015	Flared metaphysis	6885	MAP3K7	OMIM:617137
HP:0003015	Flared metaphysis	5593	PRKG2	OMIM:619636
HP:0003015	Flared metaphysis	4796	TONSL	ORPHA:93357
HP:0003015	Flared metaphysis	5745	PTH1R	OMIM:215045
HP:0003015	Flared metaphysis	5745	PTH1R	ORPHA:50945
HP:0003015	Flared metaphysis	145258	GSC	OMIM:602471
HP:0003015	Flared metaphysis	79796	ALG9	ORPHA:79328
HP:0003015	Flared metaphysis	1302	COL11A2	OMIM:215150
HP:0003015	Flared metaphysis	25839	COG4	OMIM:618150
HP:0003015	Flared metaphysis	285590	SH3PXD2B	OMIM:249420
HP:0003015	Flared metaphysis	5130	PCYT1A	ORPHA:85167
HP:0003015	Flared metaphysis	202018	TAPT1	OMIM:616897
HP:0003015	Flared metaphysis	1280	COL2A1	ORPHA:93346
HP:0003015	Flared metaphysis	1280	COL2A1	OMIM:156550
HP:0003015	Flared metaphysis	2067	ERCC1	OMIM:610758
HP:0003015	Flared metaphysis	3930	LBR	OMIM:215140
HP:0003015	Flared metaphysis	3930	LBR	OMIM:618019
HP:0003015	Flared metaphysis	1300	COL10A1	ORPHA:174
HP:0003015	Flared metaphysis	3835	KIF22	OMIM:603546
HP:0003015	Flared metaphysis	56172	ANKH	OMIM:123000
HP:0003015	Flared metaphysis	54187	NANS	OMIM:610442
HP:0003015	Flared metaphysis	5191	PEX7	OMIM:215100
HP:0003015	Flared metaphysis	64131	XYLT1	ORPHA:370930
HP:0003015	Flared metaphysis	28962	OSTM1	OMIM:259720
HP:0003015	Flared metaphysis	2697	GJA1	OMIM:218400
HP:0003015	Flared metaphysis	9469	CHST3	OMIM:245600
HP:0003015	Flared metaphysis	26229	B3GAT3	OMIM:245600
HP:0003015	Flared metaphysis	9896	FIG4	ORPHA:3472
HP:0003015	Flared metaphysis	55697	VAC14	ORPHA:3472
HP:0003015	Flared metaphysis	8726	EED	OMIM:617561
HP:0003015	Flared metaphysis	860	RUNX2	OMIM:156510
HP:0003015	Flared metaphysis	3977	LIFR	OMIM:601559
HP:0003015	Flared metaphysis	91252	SLC39A13	OMIM:612350
HP:0003015	Flared metaphysis	2316	FLNA	OMIM:309350
HP:0003015	Flared metaphysis	6023	RMRP	OMIM:607095
HP:0003015	Flared metaphysis	5116	PCNT	OMIM:210720
HP:0003015	Flared metaphysis	63901	FAM111A	OMIM:602361
HP:0003015	Flared metaphysis	25885	POLR1A	OMIM:616462
HP:0000946	Hypoplastic ilia	2261	FGFR3	OMIM:187601
HP:0000946	Hypoplastic ilia	2261	FGFR3	OMIM:187600
HP:0000946	Hypoplastic ilia	2261	FGFR3	ORPHA:1860
HP:0000946	Hypoplastic ilia	1301	COL11A1	OMIM:154780
HP:0000946	Hypoplastic ilia	126792	B3GALT6	ORPHA:536467
HP:0000946	Hypoplastic ilia	126792	B3GALT6	ORPHA:93359
HP:0000946	Hypoplastic ilia	126792	B3GALT6	OMIM:615349
HP:0000946	Hypoplastic ilia	1836	SLC26A2	OMIM:600972
HP:0000946	Hypoplastic ilia	1280	COL2A1	OMIM:151210
HP:0000946	Hypoplastic ilia	1280	COL2A1	OMIM:616583
HP:0000946	Hypoplastic ilia	1280	COL2A1	ORPHA:93296
HP:0000946	Hypoplastic ilia	28981	IFT81	OMIM:617895
HP:0000946	Hypoplastic ilia	579	NKX3-2	OMIM:613330
HP:0000946	Hypoplastic ilia	100151683	RNU4ATAC	OMIM:210710
HP:0000946	Hypoplastic ilia	23233	EXOC6B	ORPHA:93359
HP:0000946	Hypoplastic ilia	1302	COL11A2	OMIM:614524
HP:0000946	Hypoplastic ilia	3636	INPPL1	ORPHA:3144
HP:0000946	Hypoplastic ilia	23169	SLC35D1	ORPHA:3144
HP:0000946	Hypoplastic ilia	11128	POLR3A	OMIM:264090
HP:0000946	Hypoplastic ilia	11128	POLR3A	ORPHA:3455
HP:0000946	Hypoplastic ilia	6913	TBX15	ORPHA:93333
HP:0000946	Hypoplastic ilia	3339	HSPG2	ORPHA:1865
HP:0000946	Hypoplastic ilia	6223	RPS19	OMIM:105650
HP:0000946	Hypoplastic ilia	5130	PCYT1A	ORPHA:85167
HP:0000946	Hypoplastic ilia	23522	KAT6B	ORPHA:85201
HP:0000946	Hypoplastic ilia	91147	TMEM67	ORPHA:140976
HP:0000946	Hypoplastic ilia	6023	RMRP	OMIM:607095
HP:0000946	Hypoplastic ilia	388015	RTL1	ORPHA:96334
HP:0000946	Hypoplastic ilia	8788	DLK1	ORPHA:96334
HP:0000946	Hypoplastic ilia	55384	MEG3	ORPHA:96334
HP:0000946	Hypoplastic ilia	2316	FLNA	OMIM:304120
HP:0000946	Hypoplastic ilia	54	ACP5	ORPHA:1855
HP:0000946	Hypoplastic ilia	54808	DYM	ORPHA:239
HP:0000946	Hypoplastic ilia	2074	ERCC6	OMIM:133540
HP:0000946	Hypoplastic ilia	2121	EVC	OMIM:225500
HP:0000946	Hypoplastic ilia	132884	EVC2	OMIM:225500
HP:0000946	Hypoplastic ilia	7476	WNT7A	OMIM:228930
HP:0000946	Hypoplastic ilia	1387	CREBBP	OMIM:180849
HP:0000946	Hypoplastic ilia	2033	EP300	OMIM:180849
HP:0000946	Hypoplastic ilia	2335	FN1	ORPHA:93315
HP:0000946	Hypoplastic ilia	5116	PCNT	ORPHA:2637
HP:0000946	Hypoplastic ilia	5116	PCNT	OMIM:210720
HP:0000946	Hypoplastic ilia	10013	HDAC6	ORPHA:163966
HP:0000946	Hypoplastic ilia	10013	HDAC6	OMIM:300863
HP:0000946	Hypoplastic ilia	2146	EZH2	OMIM:277590
HP:0000946	Hypoplastic ilia	147372	CCBE1	OMIM:235510
HP:0000946	Hypoplastic ilia	411	ARSB	OMIM:253200
HP:0000946	Hypoplastic ilia	1513	CTSK	ORPHA:763
HP:0000946	Hypoplastic ilia	3549	IHH	OMIM:607778
HP:0000946	Hypoplastic ilia	8726	EED	OMIM:617561
HP:0000946	Hypoplastic ilia	860	RUNX2	OMIM:119600
HP:0000946	Hypoplastic ilia	4089	SMAD4	OMIM:139210
HP:0000946	Hypoplastic ilia	26175	LYSET	OMIM:619345
HP:0000946	Hypoplastic ilia	2623	GATA1	OMIM:190685
HP:0000946	Hypoplastic ilia	54101	RIPK4	OMIM:263650
HP:0000946	Hypoplastic ilia	6399	TRAPPC2	OMIM:313400
HP:0000946	Hypoplastic ilia	6662	SOX9	OMIM:114290
HP:0000946	Hypoplastic ilia	1161	ERCC8	OMIM:216400
HP:0000946	Hypoplastic ilia	3911	LAMA5	OMIM:620076
HP:0000946	Hypoplastic ilia	4125	MAN2B1	ORPHA:309282
HP:0000946	Hypoplastic ilia	10940	POP1	OMIM:617396
HP:0000946	Hypoplastic ilia	3977	LIFR	OMIM:601559
HP:0000946	Hypoplastic ilia	2317	FLNB	OMIM:112310
HP:0000946	Hypoplastic ilia	57728	WDR19	OMIM:614376
HP:0000947	Dumbbell-shaped long bone	1280	COL2A1	ORPHA:485
HP:0000947	Dumbbell-shaped long bone	1280	COL2A1	OMIM:156550
HP:0000947	Dumbbell-shaped long bone	1280	COL2A1	OMIM:151210
HP:0000947	Dumbbell-shaped long bone	23169	SLC35D1	OMIM:269250
HP:0000947	Dumbbell-shaped long bone	23169	SLC35D1	ORPHA:3144
HP:0000947	Dumbbell-shaped long bone	3636	INPPL1	ORPHA:3144
HP:0000947	Dumbbell-shaped long bone	1301	COL11A1	OMIM:228520
HP:0000947	Dumbbell-shaped long bone	1301	COL11A1	ORPHA:440354
HP:0000947	Dumbbell-shaped long bone	1836	SLC26A2	ORPHA:56304
HP:0000947	Dumbbell-shaped long bone	1836	SLC26A2	OMIM:256050
HP:0000947	Dumbbell-shaped long bone	59341	TRPV4	OMIM:156530
HP:0000947	Dumbbell-shaped long bone	59341	TRPV4	OMIM:184252
HP:0000947	Dumbbell-shaped long bone	1302	COL11A2	ORPHA:1427
HP:0100255	Metaphyseal dysplasia	9131	AIFM1	ORPHA:83629
HP:0100255	Metaphyseal dysplasia	6023	RMRP	ORPHA:175
HP:0100255	Metaphyseal dysplasia	1300	COL10A1	OMIM:156500
HP:0100255	Metaphyseal dysplasia	5745	PTH1R	OMIM:156400
HP:0100255	Metaphyseal dysplasia	51119	SBDS	OMIM:260400
HP:0100255	Metaphyseal dysplasia	51119	SBDS	ORPHA:811
HP:0100255	Metaphyseal dysplasia	134218	DNAJC21	OMIM:260400
HP:0100255	Metaphyseal dysplasia	134218	DNAJC21	ORPHA:811
HP:0100255	Metaphyseal dysplasia	6729	SRP54	OMIM:260400
HP:0100255	Metaphyseal dysplasia	6729	SRP54	ORPHA:811
HP:0100255	Metaphyseal dysplasia	2879	GPX4	ORPHA:93317
HP:0100255	Metaphyseal dysplasia	2261	FGFR3	ORPHA:85165
HP:0100255	Metaphyseal dysplasia	10013	HDAC6	ORPHA:163966
HP:0100255	Metaphyseal dysplasia	10283	CWC27	OMIM:250410
HP:0100255	Metaphyseal dysplasia	10283	CWC27	ORPHA:166035
HP:0100255	Metaphyseal dysplasia	10195	ALG3	ORPHA:79321
HP:0100255	Metaphyseal dysplasia	4322	MMP13	OMIM:250400
HP:0100255	Metaphyseal dysplasia	4322	MMP13	ORPHA:2501
HP:0100255	Metaphyseal dysplasia	79631	EFL1	ORPHA:811
HP:0100255	Metaphyseal dysplasia	9361	LONP1	OMIM:600373
HP:0100255	Metaphyseal dysplasia	54	ACP5	OMIM:607944
HP:0100255	Metaphyseal dysplasia	54	ACP5	ORPHA:1855
HP:0100255	Metaphyseal dysplasia	10940	POP1	OMIM:617396
HP:0100255	Metaphyseal dysplasia	6424	SFRP4	OMIM:265900
HP:0100255	Metaphyseal dysplasia	579	NKX3-2	OMIM:613330
HP:0100255	Metaphyseal dysplasia	79705	LRRK1	OMIM:615198
HP:0100255	Metaphyseal dysplasia	55325	UFSP2	OMIM:617974
HP:0100255	Metaphyseal dysplasia	1280	COL2A1	ORPHA:93316
HP:0100255	Metaphyseal dysplasia	55858	TMEM165	OMIM:614727
HP:0100255	Metaphyseal dysplasia	7040	TGFB1	ORPHA:1328
HP:0100255	Metaphyseal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0100255	Metaphyseal dysplasia	5286	PIK3C2A	ORPHA:557003
HP:0100255	Metaphyseal dysplasia	2697	GJA1	OMIM:218400
HP:0100255	Metaphyseal dysplasia	860	RUNX2	OMIM:156510
HP:0100255	Metaphyseal dysplasia	2137	EXTL3	OMIM:617425
HP:0100255	Metaphyseal dysplasia	79639	TMEM53	OMIM:619727
HP:0100255	Metaphyseal dysplasia	5426	POLE	OMIM:618336
HP:0100255	Metaphyseal dysplasia	5426	POLE	ORPHA:85173
HP:0100255	Metaphyseal dysplasia	1028	CDKN1C	OMIM:614732
HP:0100255	Metaphyseal dysplasia	1028	CDKN1C	ORPHA:85173
HP:0100255	Metaphyseal dysplasia	3930	LBR	OMIM:618019
HP:0100255	Metaphyseal dysplasia	54808	DYM	ORPHA:239
HP:0100255	Metaphyseal dysplasia	3417	IDH1	ORPHA:99646
HP:0003026	Short long bone	1300	COL10A1	ORPHA:174
HP:0003026	Short long bone	9935	MAFB	ORPHA:233
HP:0003026	Short long bone	1123	CHN1	ORPHA:233
HP:0003026	Short long bone	28981	IFT81	OMIM:617895
HP:0003026	Short long bone	92002	CCNQ	ORPHA:140952
HP:0003026	Short long bone	2255	FGF10	ORPHA:2363
HP:0003026	Short long bone	7476	WNT7A	OMIM:228930
HP:0003026	Short long bone	7476	WNT7A	ORPHA:2879
HP:0003026	Short long bone	7476	WNT7A	OMIM:276820
HP:0003026	Short long bone	6223	RPS19	OMIM:105650
HP:0003026	Short long bone	51604	PIGT	OMIM:615398
HP:0003026	Short long bone	9820	CUL7	ORPHA:2616
HP:0003026	Short long bone	23363	OBSL1	ORPHA:2616
HP:0003026	Short long bone	83987	CCDC8	ORPHA:2616
HP:0003026	Short long bone	6154	RPL26	OMIM:614900
HP:0003026	Short long bone	23233	EXOC6B	OMIM:618395
HP:0003026	Short long bone	1723	DHODH	OMIM:263750
HP:0003026	Short long bone	1723	DHODH	ORPHA:246
HP:0003026	Short long bone	182	JAG1	OMIM:118450
HP:0003026	Short long bone	4038	LRP4	ORPHA:3258
HP:0003026	Short long bone	4038	LRP4	OMIM:212780
HP:0003026	Short long bone	324	APC	ORPHA:3258
HP:0003026	Short long bone	672	BRCA1	ORPHA:84
HP:0003026	Short long bone	10459	MAD2L2	ORPHA:84
HP:0003026	Short long bone	7516	XRCC2	ORPHA:84
HP:0003026	Short long bone	29089	UBE2T	ORPHA:84
HP:0003026	Short long bone	675	BRCA2	ORPHA:84
HP:0003026	Short long bone	55120	FANCL	ORPHA:84
HP:0003026	Short long bone	2177	FANCD2	ORPHA:84
HP:0003026	Short long bone	2175	FANCA	ORPHA:84
HP:0003026	Short long bone	2176	FANCC	ORPHA:84
HP:0003026	Short long bone	2178	FANCE	ORPHA:84
HP:0003026	Short long bone	2188	FANCF	ORPHA:84
HP:0003026	Short long bone	2189	FANCG	ORPHA:84
HP:0003026	Short long bone	5888	RAD51	ORPHA:84
HP:0003026	Short long bone	5889	RAD51C	ORPHA:84
HP:0003026	Short long bone	55159	RFWD3	ORPHA:84
HP:0003026	Short long bone	83990	BRIP1	ORPHA:84
HP:0003026	Short long bone	57697	FANCM	ORPHA:84
HP:0003026	Short long bone	79728	PALB2	ORPHA:84
HP:0003026	Short long bone	84464	SLX4	ORPHA:84
HP:0003026	Short long bone	2072	ERCC4	ORPHA:84
HP:0003026	Short long bone	567	B2M	OMIM:241600
HP:0003026	Short long bone	55636	CHD7	OMIM:214800
HP:0003026	Short long bone	4750	NEK1	OMIM:263520
HP:0003026	Short long bone	89891	DYNC2I2	OMIM:615633
HP:0003026	Short long bone	26160	IFT172	OMIM:615630
HP:0003026	Short long bone	2335	FN1	ORPHA:93315
HP:0003026	Short long bone	347734	SLC35B2	OMIM:620269
HP:0003026	Short long bone	91147	TMEM67	OMIM:602152
HP:0003026	Short long bone	91754	NEK9	OMIM:617022
HP:0003026	Short long bone	2720	GLB1	ORPHA:79255
HP:0003026	Short long bone	79158	GNPTAB	OMIM:252500
HP:0003026	Short long bone	79158	GNPTAB	OMIM:252600
HP:0003026	Short long bone	9382	COG1	OMIM:611209
HP:0003026	Short long bone	9382	COG1	ORPHA:263508
HP:0003026	Short long bone	84068	SLC10A7	OMIM:618363
HP:0003026	Short long bone	90993	CREB3L1	OMIM:616229
HP:0003026	Short long bone	3339	HSPG2	ORPHA:1865
HP:0003026	Short long bone	3339	HSPG2	OMIM:224410
HP:0003026	Short long bone	222663	SCUBE3	OMIM:619184
HP:0003026	Short long bone	3977	LIFR	OMIM:601559
HP:0003026	Short long bone	79796	ALG9	OMIM:263210
HP:0003026	Short long bone	79796	ALG9	ORPHA:79328
HP:0003026	Short long bone	3572	IL6ST	OMIM:619751
HP:0003026	Short long bone	55699	IARS2	OMIM:616007
HP:0003026	Short long bone	9719	ADAMTSL2	OMIM:231050
HP:0003026	Short long bone	65992	DDRGK1	ORPHA:93352
HP:0003026	Short long bone	4796	TONSL	ORPHA:93357
HP:0003026	Short long bone	79809	TTC21B	OMIM:613819
HP:0003026	Short long bone	285590	SH3PXD2B	OMIM:249420
HP:0003026	Short long bone	4089	SMAD4	OMIM:139210
HP:0003026	Short long bone	2690	GHR	OMIM:262500
HP:0003026	Short long bone	5331	PLCB3	OMIM:618961
HP:0003026	Short long bone	2121	EVC	OMIM:225500
HP:0003026	Short long bone	132884	EVC2	OMIM:225500
HP:0003026	Short long bone	6137	RPL13	OMIM:618728
HP:0003026	Short long bone	55191	NADSYN1	OMIM:618845
HP:0003026	Short long bone	7474	WNT5A	OMIM:180700
HP:0003026	Short long bone	1855	DVL1	OMIM:180700
HP:0003026	Short long bone	57539	WDR35	OMIM:614091
HP:0003026	Short long bone	51626	DYNC2LI1	OMIM:617088
HP:0003026	Short long bone	51025	PAM16	OMIM:613320
HP:0003026	Short long bone	55112	DYNC2I1	OMIM:615503
HP:0003026	Short long bone	139285	AMER1	OMIM:300373
HP:0003026	Short long bone	2535	FZD2	OMIM:164745
HP:0003026	Short long bone	8200	GDF5	OMIM:200700
HP:0003026	Short long bone	8200	GDF5	OMIM:615072
HP:0003026	Short long bone	8200	GDF5	OMIM:201250
HP:0003026	Short long bone	8200	GDF5	ORPHA:2098
HP:0003026	Short long bone	8200	GDF5	OMIM:228900
HP:0003026	Short long bone	79659	DYNC2H1	OMIM:613091
HP:0003026	Short long bone	153241	CEP120	OMIM:616300
HP:0003026	Short long bone	3899	AFF3	OMIM:619297
HP:0003026	Short long bone	10082	GPC6	OMIM:258315
HP:0003026	Short long bone	727857	BHLHA9	ORPHA:3329
HP:0003026	Short long bone	658	BMPR1B	ORPHA:2098
HP:0003026	Short long bone	3636	INPPL1	ORPHA:3144
HP:0003026	Short long bone	23169	SLC35D1	ORPHA:3144
HP:0003026	Short long bone	6473	SHOX	OMIM:127300
HP:0003026	Short long bone	55764	IFT122	OMIM:218330
HP:0003026	Short long bone	10262	SF3B4	ORPHA:1788
HP:0003026	Short long bone	64093	SMOC1	ORPHA:1106
HP:0003026	Short long bone	64093	SMOC1	OMIM:206920
HP:0003026	Short long bone	5745	PTH1R	ORPHA:79106
HP:0003026	Short long bone	5745	PTH1R	OMIM:600002
HP:0003026	Short long bone	27125	AFF4	ORPHA:444077
HP:0003026	Short long bone	6662	SOX9	ORPHA:140
HP:0003026	Short long bone	6662	SOX9	OMIM:114290
HP:0003026	Short long bone	9775	EIF4A3	OMIM:268305
HP:0003026	Short long bone	1301	COL11A1	OMIM:228520
HP:0003026	Short long bone	27152	INTU	OMIM:617925
HP:0003026	Short long bone	4233	MET	OMIM:607278
HP:0003026	Short long bone	9949	AMMECR1	OMIM:300990
HP:0003026	Short long bone	10588	MTHFS	OMIM:618367
HP:0003026	Short long bone	65250	CPLANE1	OMIM:277170
HP:0003026	Short long bone	23483	TGDS	OMIM:616145
HP:0003026	Short long bone	55503	TRPV6	OMIM:618188
HP:0003026	Short long bone	57167	SALL4	OMIM:147750
HP:0003026	Short long bone	100151683	RNU4ATAC	OMIM:210710
HP:0003026	Short long bone	815	CAMK2A	OMIM:617798
HP:0003026	Short long bone	2261	FGFR3	ORPHA:1860
HP:0003026	Short long bone	2261	FGFR3	OMIM:100800
HP:0003026	Short long bone	9496	TBX4	OMIM:147891
HP:0003026	Short long bone	1280	COL2A1	ORPHA:94068
HP:0003026	Short long bone	11128	POLR3A	OMIM:264090
HP:0003026	Short long bone	11128	POLR3A	ORPHA:3455
HP:0003026	Short long bone	6913	TBX15	ORPHA:93333
HP:0003026	Short long bone	2317	FLNB	OMIM:108720
HP:0003026	Short long bone	2317	FLNB	ORPHA:1190
HP:0003026	Short long bone	79087	ALG12	OMIM:607143
HP:0003026	Short long bone	22827	PUF60	ORPHA:508488
HP:0003026	Short long bone	1836	SLC26A2	ORPHA:56304
HP:0003026	Short long bone	8540	AGPS	OMIM:600121
HP:0003026	Short long bone	3549	IHH	OMIM:607778
HP:0003026	Short long bone	8802	SUCLG1	ORPHA:17
HP:0003026	Short long bone	202018	TAPT1	OMIM:616897
HP:0003026	Short long bone	8792	TNFRSF11A	OMIM:602080
HP:0003026	Short long bone	871	SERPINH1	OMIM:613848
HP:0003026	Short long bone	3094	HINT1	ORPHA:324442
HP:0003026	Short long bone	54585	LZTFL1	OMIM:615994
HP:0003026	Short long bone	55628	ZNF407	OMIM:619557
HP:0003026	Short long bone	2146	EZH2	OMIM:277590
HP:0003026	Short long bone	9578	CDC42BPB	OMIM:619841
HP:0003026	Short long bone	23288	IQCE	OMIM:617642
HP:0003026	Short long bone	341208	HEPHL1	OMIM:261990
HP:0003026	Short long bone	91179	SCARF2	OMIM:600920
HP:0003026	Short long bone	4920	ROR2	OMIM:268310
HP:0003026	Short long bone	7355	SLC35A2	ORPHA:356961
HP:0003026	Short long bone	6469	SHH	ORPHA:93405
HP:0003026	Short long bone	57688	ZSWIM6	OMIM:603671
HP:0003026	Short long bone	26123	TCTN3	OMIM:258860
HP:0003026	Short long bone	9939	RBM8A	OMIM:274000
HP:0003026	Short long bone	9361	LONP1	OMIM:600373
HP:0003026	Short long bone	64327	LMBR1	OMIM:200500
HP:0003026	Short long bone	64327	LMBR1	ORPHA:931
HP:0003026	Short long bone	6628	SNRPB	OMIM:117650
HP:0003026	Short long bone	9851	KIAA0753	OMIM:619479
HP:0003026	Short long bone	538	ATP7A	OMIM:304150
HP:0003026	Short long bone	145258	GSC	OMIM:602471
HP:0003026	Short long bone	9241	NOG	OMIM:186500
HP:0003026	Short long bone	157570	ESCO2	OMIM:268300
HP:0003026	Short long bone	4982	TNFRSF11B	OMIM:239000
HP:0003026	Short long bone	6910	TBX5	OMIM:142900
HP:0003026	Short long bone	114803	MYSM1	ORPHA:508542
HP:0003026	Short long bone	9401	RECQL4	OMIM:218600
HP:0003026	Short long bone	6926	TBX3	OMIM:181450
HP:0003026	Short long bone	8443	GNPAT	OMIM:222765
HP:0003026	Short long bone	2187	FANCB	OMIM:314390
HP:0003026	Short long bone	7547	ZIC3	OMIM:314390
HP:0003026	Short long bone	2316	FLNA	OMIM:309350
HP:0003026	Short long bone	5830	PEX5	OMIM:616716
HP:0003026	Short long bone	219844	HYLS1	OMIM:236680
HP:0003026	Short long bone	545	ATR	OMIM:210600
HP:0003026	Short long bone	8241	RBM10	ORPHA:2886
HP:0003026	Short long bone	23476	BRD4	ORPHA:199
HP:0003026	Short long bone	9126	SMC3	ORPHA:199
HP:0003026	Short long bone	8243	SMC1A	ORPHA:199
HP:0003026	Short long bone	25836	NIPBL	ORPHA:199
HP:0003026	Short long bone	55869	HDAC8	ORPHA:199
HP:0003026	Short long bone	5885	RAD21	ORPHA:199
HP:0003026	Short long bone	90	ACVR1	OMIM:135100
HP:0003026	Short long bone	55215	FANCI	OMIM:609053
HP:0003026	Short long bone	5116	PCNT	OMIM:210720
HP:0003026	Short long bone	26040	SETBP1	OMIM:269150
HP:0003026	Short long bone	26040	SETBP1	ORPHA:798
HP:0003026	Short long bone	388015	RTL1	ORPHA:96334
HP:0003026	Short long bone	8788	DLK1	ORPHA:96334
HP:0003026	Short long bone	55384	MEG3	ORPHA:96334
HP:0003026	Short long bone	3911	LAMA5	OMIM:620076
HP:0003026	Short long bone	2737	GLI3	ORPHA:672
HP:0003026	Short long bone	2737	GLI3	OMIM:146510
HP:0003026	Short long bone	94005	PIGS	OMIM:618143
HP:0003026	Short long bone	79633	FAT4	OMIM:615546
HP:0003026	Short long bone	8642	DCHS1	OMIM:601390
HP:0003026	Short long bone	26224	FBXL3	OMIM:606220
HP:0003026	Short long bone	5727	PTCH1	OMIM:109400
HP:0003026	Short long bone	55612	FERMT1	ORPHA:2908
HP:0003026	Short long bone	650	BMP2	OMIM:617877
HP:0003026	Short long bone	374969	SVBP	OMIM:618569
HP:0003026	Short long bone	860	RUNX2	OMIM:156510
HP:0003026	Short long bone	8823	FGF16	OMIM:309630
HP:0003026	Short long bone	2137	EXTL3	ORPHA:508533
HP:0003026	Short long bone	5573	PRKAR1A	ORPHA:950
HP:0003026	Short long bone	5573	PRKAR1A	OMIM:101800
HP:0003026	Short long bone	5573	PRKAR1A	ORPHA:280651
HP:0003026	Short long bone	5144	PDE4D	ORPHA:950
HP:0003026	Short long bone	5144	PDE4D	ORPHA:439822
HP:0003026	Short long bone	5144	PDE4D	OMIM:614613
HP:0003026	Short long bone	5144	PDE4D	ORPHA:280651
HP:0003026	Short long bone	64374	SIL1	OMIM:248800
HP:0003026	Short long bone	4921	DDR2	OMIM:271665
HP:0003026	Short long bone	54808	DYM	OMIM:607326
HP:0003026	Short long bone	54808	DYM	OMIM:223800
HP:0003026	Short long bone	2131	EXT1	OMIM:133700
HP:0003026	Short long bone	2131	EXT1	ORPHA:321
HP:0003026	Short long bone	2132	EXT2	OMIM:133701
HP:0003026	Short long bone	2132	EXT2	ORPHA:321
HP:0003026	Short long bone	2879	GPX4	ORPHA:93317
HP:0003026	Short long bone	2879	GPX4	OMIM:250220
HP:0003026	Short long bone	6885	MAP3K7	OMIM:617137
HP:0003026	Short long bone	6885	MAP3K7	ORPHA:1826
HP:0003026	Short long bone	9759	HDAC4	ORPHA:1001
HP:0003026	Short long bone	9759	HDAC4	OMIM:600430
HP:0003026	Short long bone	89970	RSPRY1	OMIM:616723
HP:0003026	Short long bone	89970	RSPRY1	ORPHA:457395
HP:0003026	Short long bone	55733	HHAT	OMIM:600092
HP:0003026	Short long bone	55733	HHAT	ORPHA:1422
HP:0003026	Short long bone	5447	POR	ORPHA:95699
HP:0003026	Short long bone	149775	GNAS-AS1	OMIM:603233
HP:0003026	Short long bone	8675	STX16	OMIM:603233
HP:0003026	Short long bone	2778	GNAS	OMIM:603233
HP:0003026	Short long bone	2778	GNAS	OMIM:612463
HP:0003026	Short long bone	2778	GNAS	OMIM:612462
HP:0003026	Short long bone	2778	GNAS	ORPHA:79443
HP:0003026	Short long bone	2778	GNAS	ORPHA:79444
HP:0003026	Short long bone	2778	GNAS	OMIM:103580
HP:0003026	Short long bone	117581	TWIST2	OMIM:200110
HP:0003026	Short long bone	10847	SRCAP	ORPHA:2044
HP:0003026	Short long bone	25782	RAB3GAP2	OMIM:212720
HP:0003026	Short long bone	5744	PTHLH	ORPHA:93387
HP:0003026	Short long bone	5744	PTHLH	OMIM:613382
HP:0003026	Short long bone	3239	HOXD13	ORPHA:93387
HP:0003026	Short long bone	3239	HOXD13	OMIM:113300
HP:0003026	Short long bone	10225	CD96	OMIM:211750
HP:0003026	Short long bone	64175	P3H1	OMIM:610915
HP:0003026	Short long bone	6197	RPS6KA3	OMIM:303600
HP:0003026	Short long bone	6197	RPS6KA3	ORPHA:192
HP:0003026	Short long bone	9469	CHST3	ORPHA:263463
HP:0003026	Short long bone	9469	CHST3	OMIM:143095
HP:0003026	Short long bone	54496	PRMT7	OMIM:617157
HP:0003026	Short long bone	64131	XYLT1	OMIM:615777
HP:0003026	Short long bone	2200	FBN1	ORPHA:969
HP:0003026	Short long bone	2200	FBN1	OMIM:608328
HP:0003026	Short long bone	2200	FBN1	OMIM:102370
HP:0003026	Short long bone	4054	LTBP3	ORPHA:969
HP:0003026	Short long bone	3759	KCNJ2	OMIM:170390
HP:0003026	Short long bone	157680	VPS13B	OMIM:216550
HP:0003026	Short long bone	5139	PDE3A	OMIM:112410
HP:0003026	Short long bone	5139	PDE3A	ORPHA:1276
HP:0003026	Short long bone	633	BGN	OMIM:300106
HP:0003026	Short long bone	1311	COMP	OMIM:132400
HP:0003026	Short long bone	1311	COMP	OMIM:177170
HP:0003026	Short long bone	29980	DONSON	OMIM:617604
HP:0003026	Short long bone	64840	PORCN	OMIM:305600
HP:0003026	Short long bone	4882	NPR2	OMIM:602875
HP:0003026	Short long bone	145173	B3GLCT	OMIM:261540
HP:0003026	Short long bone	5593	PRKG2	OMIM:619636
HP:0003026	Short long bone	10283	CWC27	OMIM:250410
HP:0003026	Short long bone	10283	CWC27	ORPHA:166035
HP:0003026	Short long bone	4810	NHS	ORPHA:627
HP:0003026	Short long bone	25839	COG4	OMIM:618150
HP:0003026	Short long bone	9321	TRIP11	OMIM:184260
HP:0003026	Short long bone	5130	PCYT1A	ORPHA:85167
HP:0003026	Short long bone	5130	PCYT1A	OMIM:608940
HP:0003026	Short long bone	54928	BPNT2	OMIM:614078
HP:0003026	Short long bone	51098	IFT52	OMIM:617102
HP:0003026	Short long bone	1299	COL9A3	OMIM:600969
HP:0003026	Short long bone	4148	MATN3	OMIM:607078
HP:0003026	Short long bone	126792	B3GALT6	OMIM:271640
HP:0003026	Short long bone	55252	ASXL2	OMIM:617190
HP:0003026	Short long bone	3930	LBR	OMIM:215140
HP:0003026	Short long bone	5264	PHYH	ORPHA:773
HP:0003026	Short long bone	5191	PEX7	ORPHA:773
HP:0003026	Short long bone	2260	FGFR1	OMIM:166250
HP:0003026	Short long bone	1788	DNMT3A	OMIM:618724
HP:0003026	Short long bone	1302	COL11A2	ORPHA:1427
HP:0003026	Short long bone	22856	CHSY1	OMIM:605282
HP:0003026	Short long bone	6595	SMARCA2	OMIM:601358
HP:0003026	Short long bone	54101	RIPK4	OMIM:263650
HP:0003026	Short long bone	83452	RAB33B	OMIM:615222
HP:0003026	Short long bone	91252	SLC39A13	OMIM:612350
HP:0003026	Short long bone	57560	IFT80	OMIM:611263
HP:0003026	Short long bone	25871	NEPRO	OMIM:618853
HP:0003026	Short long bone	7227	TRPS1	OMIM:190350
HP:0003026	Short long bone	7227	TRPS1	OMIM:190351
HP:0003026	Short long bone	7227	TRPS1	ORPHA:77258
HP:0003026	Short long bone	90417	KNSTRN	OMIM:613328
HP:0003026	Short long bone	5293	PIK3CD	OMIM:613328
HP:0003026	Short long bone	25886	POC1A	OMIM:614813
HP:0003026	Short long bone	6023	RMRP	OMIM:250460
HP:0003026	Short long bone	64682	ANAPC1	ORPHA:221008
HP:0003026	Short long bone	2033	EP300	OMIM:613684
HP:0003026	Short long bone	3209	HOXA13	OMIM:140000
HP:0003026	Short long bone	3209	HOXA13	ORPHA:2438
HP:0003026	Short long bone	57020	VPS35L	OMIM:619135
HP:0003026	Short long bone	59341	TRPV4	ORPHA:93314
HP:0003026	Short long bone	6925	TCF4	ORPHA:2896
HP:0003026	Short long bone	6299	SALL1	OMIM:107480
HP:0003026	Short long bone	124583	CANT1	OMIM:251450
HP:0003026	Short long bone	2263	FGFR2	ORPHA:1540
HP:0003026	Short long bone	9896	FIG4	OMIM:216340
HP:0003026	Short long bone	9742	IFT140	OMIM:266920
HP:0003026	Short long bone	6736	SRY	ORPHA:1772
HP:0003026	Short long bone	3516	RBPJ	OMIM:614814
HP:0000951	Abnormality of the skin	3664	IRF6	OMIM:119300
HP:0000951	Abnormality of the skin	3664	IRF6	ORPHA:888
HP:0000951	Abnormality of the skin	3664	IRF6	OMIM:119500
HP:0000951	Abnormality of the skin	7403	KDM6A	OMIM:300867
HP:0000951	Abnormality of the skin	57822	GRHL3	ORPHA:888
HP:0000951	Abnormality of the skin	8367	H4C5	OMIM:619950
HP:0000951	Abnormality of the skin	8294	H4C9	OMIM:619951
HP:0000951	Abnormality of the skin	2138	EYA1	OMIM:113650
HP:0000951	Abnormality of the skin	2138	EYA1	ORPHA:107
HP:0000951	Abnormality of the skin	2138	EYA1	ORPHA:52429
HP:0000951	Abnormality of the skin	6495	SIX1	OMIM:113650
HP:0000951	Abnormality of the skin	6495	SIX1	ORPHA:107
HP:0000951	Abnormality of the skin	6495	SIX1	ORPHA:52429
HP:0000951	Abnormality of the skin	6495	SIX1	OMIM:608389
HP:0000951	Abnormality of the skin	2132	EXT2	OMIM:616682
HP:0000951	Abnormality of the skin	2335	FN1	ORPHA:93315
HP:0000951	Abnormality of the skin	2972	BRF1	OMIM:616202
HP:0000951	Abnormality of the skin	145173	B3GLCT	ORPHA:709
HP:0000951	Abnormality of the skin	10992	SF3B2	OMIM:164210
HP:0000951	Abnormality of the skin	6299	SALL1	OMIM:107480
HP:0000951	Abnormality of the skin	6299	SALL1	ORPHA:857
HP:0000951	Abnormality of the skin	374654	KIF7	OMIM:200990
HP:0000951	Abnormality of the skin	89910	UBE3B	OMIM:244450
HP:0000951	Abnormality of the skin	89910	UBE3B	ORPHA:2707
HP:0000951	Abnormality of the skin	8085	KMT2D	ORPHA:2322
HP:0000951	Abnormality of the skin	4953	ODC1	ORPHA:544488
HP:0000951	Abnormality of the skin	9723	SEMA3E	ORPHA:138
HP:0000951	Abnormality of the skin	10735	STAG2	OMIM:301022
HP:0000951	Abnormality of the skin	57492	ARID1B	OMIM:135900
HP:0000951	Abnormality of the skin	10265	IRX5	OMIM:611174
HP:0000951	Abnormality of the skin	23389	MED13L	ORPHA:369891
HP:0000951	Abnormality of the skin	10943	MSL3	OMIM:301032
HP:0000951	Abnormality of the skin	1501	CTNND2	ORPHA:281
HP:0000951	Abnormality of the skin	9037	SEMA5A	ORPHA:281
HP:0000951	Abnormality of the skin	51729	WBP11	OMIM:619227
HP:0000951	Abnormality of the skin	147912	SIX5	OMIM:610896
HP:0000951	Abnormality of the skin	147912	SIX5	ORPHA:107
HP:0000951	Abnormality of the skin	1906	EDN1	ORPHA:137888
HP:0000951	Abnormality of the skin	5332	PLCB4	ORPHA:137888
HP:0000951	Abnormality of the skin	2773	GNAI3	ORPHA:137888
HP:0000951	Abnormality of the skin	2773	GNAI3	OMIM:602483
HP:0000951	Abnormality of the skin	53834	FGFRL1	OMIM:194190
HP:0000951	Abnormality of the skin	1487	CTBP1	OMIM:194190
HP:0000951	Abnormality of the skin	3954	LETM1	OMIM:194190
HP:0000951	Abnormality of the skin	7468	NSD2	OMIM:194190
HP:0000951	Abnormality of the skin	10815	CPLX1	OMIM:194190
HP:0000951	Abnormality of the skin	9343	EFTUD2	OMIM:610536
HP:0000951	Abnormality of the skin	9343	EFTUD2	ORPHA:79113
HP:0000951	Abnormality of the skin	3192	HNRNPU	ORPHA:238769
HP:0000951	Abnormality of the skin	157680	VPS13B	ORPHA:193
HP:0000951	Abnormality of the skin	8092	ALX1	ORPHA:306542
HP:0000951	Abnormality of the skin	94005	PIGS	OMIM:618143
HP:0000951	Abnormality of the skin	1909	EDNRA	OMIM:616367
HP:0000951	Abnormality of the skin	8364	H4C3	OMIM:619758
HP:0000951	Abnormality of the skin	10907	TXNL4A	OMIM:608572
HP:0000951	Abnormality of the skin	79759	ZNF668	OMIM:620194
HP:0000951	Abnormality of the skin	84172	POLR1B	ORPHA:861
HP:0000951	Abnormality of the skin	9533	POLR1C	ORPHA:861
HP:0000951	Abnormality of the skin	51082	POLR1D	ORPHA:861
HP:0000951	Abnormality of the skin	6949	TCOF1	ORPHA:861
HP:0000951	Abnormality of the skin	6949	TCOF1	OMIM:154500
HP:0000951	Abnormality of the skin	29123	ANKRD11	ORPHA:261250
HP:0000951	Abnormality of the skin	79971	WLS	OMIM:619648
HP:0000951	Abnormality of the skin	51339	DACT1	ORPHA:857
HP:0000951	Abnormality of the skin	54916	TMEM260	OMIM:617478
HP:0000951	Abnormality of the skin	374969	SVBP	OMIM:618569
HP:0000951	Abnormality of the skin	2317	FLNB	OMIM:272460
HP:0000951	Abnormality of the skin	9897	WASHC5	ORPHA:7
HP:0000951	Abnormality of the skin	28952	CCDC22	ORPHA:7
HP:0000951	Abnormality of the skin	2719	GPC3	OMIM:312870
HP:0000951	Abnormality of the skin	2239	GPC4	OMIM:312870
HP:0000951	Abnormality of the skin	3978	LIG1	OMIM:619774
HP:0000951	Abnormality of the skin	5648	MASP1	OMIM:257920
HP:0000951	Abnormality of the skin	23064	SETX	OMIM:606002
HP:0000951	Abnormality of the skin	5190	PEX6	ORPHA:95433
HP:0000951	Abnormality of the skin	5476	CTSA	OMIM:256540
HP:0000951	Abnormality of the skin	1009	CDH11	ORPHA:1299
HP:0000951	Abnormality of the skin	147495	APCDD1	OMIM:605389
HP:0000951	Abnormality of the skin	7421	VDR	ORPHA:93160
HP:0000951	Abnormality of the skin	7421	VDR	OMIM:277440
HP:0000951	Abnormality of the skin	9927	MFN2	OMIM:151800
HP:0000951	Abnormality of the skin	23118	TAB2	ORPHA:228410
HP:0000951	Abnormality of the skin	53630	BCO1	OMIM:115300
HP:0000951	Abnormality of the skin	6144	RPL21	OMIM:615885
HP:0000951	Abnormality of the skin	9640	ZNF592	ORPHA:83472
HP:0000951	Abnormality of the skin	23314	SATB2	ORPHA:576283
HP:0000951	Abnormality of the skin	4072	EPCAM	ORPHA:92050
HP:0000951	Abnormality of the skin	105371045	PERCC1	ORPHA:92050
HP:0000951	Abnormality of the skin	54809	SAMD9	OMIM:610455
HP:0000951	Abnormality of the skin	229	ALDOB	OMIM:229600
HP:0000951	Abnormality of the skin	229	ALDOB	ORPHA:469
HP:0000951	Abnormality of the skin	55532	SLC30A10	ORPHA:309854
HP:0000951	Abnormality of the skin	9420	CYP7B1	ORPHA:79302
HP:0000951	Abnormality of the skin	9420	CYP7B1	OMIM:613812
HP:0000951	Abnormality of the skin	55687	TRMU	OMIM:613070
HP:0000951	Abnormality of the skin	60561	RINT1	OMIM:618641
HP:0000951	Abnormality of the skin	11232	POLG2	OMIM:618528
HP:0000951	Abnormality of the skin	1716	DGUOK	OMIM:251880
HP:0000951	Abnormality of the skin	1244	ABCC2	ORPHA:234
HP:0000951	Abnormality of the skin	1244	ABCC2	OMIM:237500
HP:0000951	Abnormality of the skin	5311	PKD2	OMIM:613095
HP:0000951	Abnormality of the skin	10068	IL18BP	OMIM:618549
HP:0000951	Abnormality of the skin	5265	SERPINA1	ORPHA:60
HP:0000951	Abnormality of the skin	5428	POLG	OMIM:203700
HP:0000951	Abnormality of the skin	55670	PEX26	OMIM:614872
HP:0000951	Abnormality of the skin	55670	PEX26	ORPHA:912
HP:0000951	Abnormality of the skin	10165	SLC25A13	ORPHA:247598
HP:0000951	Abnormality of the skin	9409	PEX16	OMIM:614876
HP:0000951	Abnormality of the skin	9409	PEX16	ORPHA:912
HP:0000951	Abnormality of the skin	2729	GCLC	ORPHA:33574
HP:0000951	Abnormality of the skin	11330	CTRC	ORPHA:103918
HP:0000951	Abnormality of the skin	11330	CTRC	ORPHA:676
HP:0000951	Abnormality of the skin	6690	SPINK1	ORPHA:103918
HP:0000951	Abnormality of the skin	6690	SPINK1	ORPHA:676
HP:0000951	Abnormality of the skin	5213	PFKM	OMIM:232800
HP:0000951	Abnormality of the skin	5195	PEX14	OMIM:614887
HP:0000951	Abnormality of the skin	5195	PEX14	ORPHA:912
HP:0000951	Abnormality of the skin	29929	ALG6	ORPHA:79320
HP:0000951	Abnormality of the skin	5825	ABCD3	OMIM:616278
HP:0000951	Abnormality of the skin	27429	HTRA2	OMIM:617248
HP:0000951	Abnormality of the skin	5824	PEX19	ORPHA:912
HP:0000951	Abnormality of the skin	8504	PEX3	ORPHA:912
HP:0000951	Abnormality of the skin	5194	PEX13	ORPHA:912
HP:0000951	Abnormality of the skin	6006	RHCE	ORPHA:71275
HP:0000951	Abnormality of the skin	6007	RHD	ORPHA:71275
HP:0000951	Abnormality of the skin	763	CA5A	OMIM:615751
HP:0000951	Abnormality of the skin	3875	KRT18	OMIM:215600
HP:0000951	Abnormality of the skin	5172	SLC26A4	ORPHA:95720
HP:0000951	Abnormality of the skin	2592	GALT	ORPHA:79239
HP:0000951	Abnormality of the skin	51218	GLRX5	OMIM:616860
HP:0000951	Abnormality of the skin	2821	GPI	OMIM:613470
HP:0000951	Abnormality of the skin	50619	DEF6	OMIM:619573
HP:0000951	Abnormality of the skin	7019	TFAM	OMIM:617156
HP:0000951	Abnormality of the skin	3431	SP110	ORPHA:79124
HP:0000951	Abnormality of the skin	7289	TULP3	OMIM:619902
HP:0000951	Abnormality of the skin	285282	RABL3	ORPHA:1333
HP:0000951	Abnormality of the skin	23022	PALLD	ORPHA:1333
HP:0000951	Abnormality of the skin	5644	PRSS1	ORPHA:676
HP:0000951	Abnormality of the skin	5645	PRSS2	ORPHA:676
HP:0000951	Abnormality of the skin	1357	CPA1	ORPHA:676
HP:0000951	Abnormality of the skin	570	BAAT	OMIM:619232
HP:0000951	Abnormality of the skin	6928	HNF1B	ORPHA:93111
HP:0000951	Abnormality of the skin	286410	ATP11C	OMIM:301015
HP:0000951	Abnormality of the skin	51124	IER3IP1	OMIM:614231
HP:0000951	Abnormality of the skin	226	ALDOA	OMIM:611881
HP:0000951	Abnormality of the skin	100506658	OCLN	OMIM:251290
HP:0000951	Abnormality of the skin	199221	DZIP1L	ORPHA:731
HP:0000951	Abnormality of the skin	2215	FCGR3B	ORPHA:464370
HP:0000951	Abnormality of the skin	25974	MMACHC	ORPHA:79282
HP:0000951	Abnormality of the skin	37	ACADVL	ORPHA:26793
HP:0000951	Abnormality of the skin	2108	ETFA	OMIM:231680
HP:0000951	Abnormality of the skin	2109	ETFB	OMIM:231680
HP:0000951	Abnormality of the skin	2110	ETFDH	OMIM:231680
HP:0000951	Abnormality of the skin	2582	GALE	OMIM:230350
HP:0000951	Abnormality of the skin	128	ADH5	OMIM:619151
HP:0000951	Abnormality of the skin	4173	MCM4	OMIM:609981
HP:0000951	Abnormality of the skin	3284	HSD3B2	ORPHA:90791
HP:0000951	Abnormality of the skin	8879	SGPL1	OMIM:617575
HP:0000951	Abnormality of the skin	80025	PANK2	OMIM:234200
HP:0000951	Abnormality of the skin	190	NR0B1	OMIM:300200
HP:0000951	Abnormality of the skin	654	BMP6	ORPHA:465508
HP:0000951	Abnormality of the skin	55367	PIDD1	OMIM:619827
HP:0000951	Abnormality of the skin	23394	ADNP	ORPHA:404448
HP:0000951	Abnormality of the skin	51126	NAA20	OMIM:619717
HP:0000951	Abnormality of the skin	6228	RPS23	OMIM:617412
HP:0000951	Abnormality of the skin	5885	RAD21	OMIM:614701
HP:0000951	Abnormality of the skin	55627	SMPD4	OMIM:618622
HP:0000951	Abnormality of the skin	123263	MTFMT	OMIM:614947
HP:0000951	Abnormality of the skin	10274	STAG1	ORPHA:502434
HP:0000951	Abnormality of the skin	5830	PEX5	OMIM:214110
HP:0000951	Abnormality of the skin	9578	CDC42BPB	OMIM:619841
HP:0000951	Abnormality of the skin	3020	H3-3A	OMIM:619720
HP:0000951	Abnormality of the skin	10300	KATNB1	OMIM:616212
HP:0000951	Abnormality of the skin	51506	UFC1	OMIM:618076
HP:0000951	Abnormality of the skin	55790	CSGALNACT1	OMIM:618870
HP:0000951	Abnormality of the skin	22858	CILK1	OMIM:612651
HP:0000951	Abnormality of the skin	9382	COG1	OMIM:611209
HP:0000951	Abnormality of the skin	84987	COX14	OMIM:619053
HP:0000951	Abnormality of the skin	3899	AFF3	OMIM:619297
HP:0000951	Abnormality of the skin	652	BMP4	OMIM:607932
HP:0000951	Abnormality of the skin	5442	POLRMT	OMIM:619743
HP:0000951	Abnormality of the skin	132158	GLYCTK	OMIM:220120
HP:0000951	Abnormality of the skin	23036	ZNF292	OMIM:619188
HP:0000951	Abnormality of the skin	55148	UBR7	OMIM:619189
HP:0000951	Abnormality of the skin	727857	BHLHA9	OMIM:609432
HP:0000951	Abnormality of the skin	1802	DPH2	OMIM:620062
HP:0000951	Abnormality of the skin	55768	NGLY1	OMIM:615273
HP:0000951	Abnormality of the skin	5828	PEX2	OMIM:614866
HP:0000951	Abnormality of the skin	150468	CKAP2L	OMIM:272440
HP:0000951	Abnormality of the skin	6134	RPL10	ORPHA:459070
HP:0000951	Abnormality of the skin	6134	RPL10	OMIM:300998
HP:0000951	Abnormality of the skin	6134	RPL10	ORPHA:435938
HP:0000951	Abnormality of the skin	23137	SMC5	OMIM:620185
HP:0000951	Abnormality of the skin	7750	ZMYM2	OMIM:619522
HP:0000951	Abnormality of the skin	10430	TMEM147	OMIM:620075
HP:0000951	Abnormality of the skin	23483	TGDS	OMIM:616145
HP:0000951	Abnormality of the skin	25836	NIPBL	OMIM:122470
HP:0000951	Abnormality of the skin	51322	WAC	ORPHA:466950
HP:0000951	Abnormality of the skin	4208	MEF2C	OMIM:613443
HP:0000951	Abnormality of the skin	55690	PACS1	ORPHA:329224
HP:0000951	Abnormality of the skin	6878	TAF6	OMIM:617126
HP:0000951	Abnormality of the skin	81603	TRIM8	OMIM:619428
HP:0000951	Abnormality of the skin	9230	RAB11B	OMIM:617807
HP:0000951	Abnormality of the skin	55081	IFT57	OMIM:617927
HP:0000951	Abnormality of the skin	3720	JARID2	OMIM:620098
HP:0000951	Abnormality of the skin	5193	PEX12	OMIM:266510
HP:0000951	Abnormality of the skin	57122	NUP107	OMIM:618348
HP:0000951	Abnormality of the skin	5515	PPP2CA	OMIM:618354
HP:0000951	Abnormality of the skin	23030	KDM4B	OMIM:619320
HP:0000951	Abnormality of the skin	2902	GRIN1	OMIM:617820
HP:0000951	Abnormality of the skin	23097	CDK19	OMIM:618916
HP:0000951	Abnormality of the skin	4131	MAP1B	OMIM:618918
HP:0000951	Abnormality of the skin	5530	PPP3CA	OMIM:617711
HP:0000951	Abnormality of the skin	80746	TSEN2	OMIM:612389
HP:0000951	Abnormality of the skin	9361	LONP1	ORPHA:79243
HP:0000951	Abnormality of the skin	5160	PDHA1	ORPHA:79243
HP:0000951	Abnormality of the skin	55764	IFT122	OMIM:218330
HP:0000951	Abnormality of the skin	8604	SLC25A12	OMIM:612949
HP:0000951	Abnormality of the skin	9241	NOG	OMIM:186500
HP:0000951	Abnormality of the skin	57187	THOC2	ORPHA:457240
HP:0000951	Abnormality of the skin	6938	TCF12	OMIM:615314
HP:0000951	Abnormality of the skin	92002	CCNQ	OMIM:300707
HP:0000951	Abnormality of the skin	91461	PKDCC	OMIM:618821
HP:0000951	Abnormality of the skin	4329	ALDH6A1	OMIM:614105
HP:0000951	Abnormality of the skin	1457	CSNK2A1	OMIM:617062
HP:0000951	Abnormality of the skin	7204	TRIO	OMIM:617061
HP:0000951	Abnormality of the skin	51305	KCNK9	OMIM:612292
HP:0000951	Abnormality of the skin	83737	ITCH	OMIM:613385
HP:0000951	Abnormality of the skin	64093	SMOC1	OMIM:206920
HP:0000951	Abnormality of the skin	7169	TPM2	OMIM:108120
HP:0000951	Abnormality of the skin	8200	GDF5	OMIM:201250
HP:0000951	Abnormality of the skin	1748	DLX4	OMIM:616788
HP:0000951	Abnormality of the skin	2733	GLE1	OMIM:611890
HP:0000951	Abnormality of the skin	738	VPS51	OMIM:618606
HP:0000951	Abnormality of the skin	23299	BICD2	OMIM:618291
HP:0000951	Abnormality of the skin	8462	KLF11	ORPHA:552
HP:0000951	Abnormality of the skin	2645	GCK	ORPHA:552
HP:0000951	Abnormality of the skin	26060	APPL1	ORPHA:552
HP:0000951	Abnormality of the skin	640	BLK	ORPHA:552
HP:0000951	Abnormality of the skin	1056	CEL	ORPHA:552
HP:0000951	Abnormality of the skin	4760	NEUROD1	ORPHA:552
HP:0000951	Abnormality of the skin	3651	PDX1	ORPHA:552
HP:0000951	Abnormality of the skin	5078	PAX4	ORPHA:552
HP:0000951	Abnormality of the skin	3630	INS	ORPHA:552
HP:0000951	Abnormality of the skin	4160	MC4R	ORPHA:71529
HP:0000951	Abnormality of the skin	3290	HSD11B1	OMIM:614662
HP:0000951	Abnormality of the skin	63924	CIDEC	OMIM:615238
HP:0000951	Abnormality of the skin	63924	CIDEC	ORPHA:435651
HP:0000951	Abnormality of the skin	27125	AFF4	ORPHA:444077
HP:0000951	Abnormality of the skin	5346	PLIN1	ORPHA:280356
HP:0000951	Abnormality of the skin	5346	PLIN1	OMIM:613877
HP:0000951	Abnormality of the skin	208	AKT2	ORPHA:79085
HP:0000951	Abnormality of the skin	1588	CYP19A1	ORPHA:91
HP:0000951	Abnormality of the skin	3479	IGF1	ORPHA:73272
HP:0000951	Abnormality of the skin	6548	SLC9A1	OMIM:616291
HP:0000951	Abnormality of the skin	7156	TOP3A	OMIM:618097
HP:0000951	Abnormality of the skin	10283	CWC27	OMIM:250410
HP:0000951	Abnormality of the skin	10283	CWC27	ORPHA:166035
HP:0000951	Abnormality of the skin	8936	WASF1	OMIM:618707
HP:0000951	Abnormality of the skin	5324	PLAG1	ORPHA:397590
HP:0000951	Abnormality of the skin	55023	PHIP	OMIM:617991
HP:0000951	Abnormality of the skin	55023	PHIP	ORPHA:589905
HP:0000951	Abnormality of the skin	157570	ESCO2	OMIM:268300
HP:0000951	Abnormality of the skin	22907	DHX30	OMIM:617804
HP:0000951	Abnormality of the skin	7849	PAX8	OMIM:218700
HP:0000951	Abnormality of the skin	9071	CLDN10	OMIM:617671
HP:0000951	Abnormality of the skin	816	CAMK2B	OMIM:617799
HP:0000951	Abnormality of the skin	55012	PPP2R3C	OMIM:618419
HP:0000951	Abnormality of the skin	253959	RALGAPA1	OMIM:618797
HP:0000951	Abnormality of the skin	5587	PRKD1	OMIM:617364
HP:0000951	Abnormality of the skin	55770	EXOC2	OMIM:619306
HP:0000951	Abnormality of the skin	4792	NFKBIA	OMIM:612132
HP:0000951	Abnormality of the skin	7200	TRH	OMIM:275120
HP:0000951	Abnormality of the skin	9837	GINS1	OMIM:617827
HP:0000951	Abnormality of the skin	7067	THRA	OMIM:614450
HP:0000951	Abnormality of the skin	6304	SATB1	OMIM:619229
HP:0000951	Abnormality of the skin	440138	ALG11	ORPHA:280071
HP:0000951	Abnormality of the skin	91875	TTC5	OMIM:619244
HP:0000951	Abnormality of the skin	5264	PHYH	ORPHA:773
HP:0000951	Abnormality of the skin	5191	PEX7	ORPHA:773
HP:0000951	Abnormality of the skin	7480	WNT10B	OMIM:617073
HP:0000951	Abnormality of the skin	1650	DDOST	ORPHA:300536
HP:0000951	Abnormality of the skin	8799	PEX11B	OMIM:614920
HP:0000951	Abnormality of the skin	55181	SMG8	OMIM:619268
HP:0000951	Abnormality of the skin	8942	KYNU	ORPHA:79155
HP:0000951	Abnormality of the skin	128674	PROKR2	ORPHA:3157
HP:0000951	Abnormality of the skin	6657	SOX2	ORPHA:3157
HP:0000951	Abnormality of the skin	6658	SOX3	ORPHA:3157
HP:0000951	Abnormality of the skin	9915	ARNT2	ORPHA:3157
HP:0000951	Abnormality of the skin	5015	OTX2	ORPHA:3157
HP:0000951	Abnormality of the skin	54892	NCAPG2	OMIM:618460
HP:0000951	Abnormality of the skin	1859	DYRK1A	ORPHA:268261
HP:0000951	Abnormality of the skin	6650	CAPN15	OMIM:619318
HP:0000951	Abnormality of the skin	85358	SHANK3	OMIM:606232
HP:0000951	Abnormality of the skin	85358	SHANK3	ORPHA:48652
HP:0000951	Abnormality of the skin	57216	VANGL2	OMIM:182940
HP:0000951	Abnormality of the skin	6347	CCL2	OMIM:182940
HP:0000951	Abnormality of the skin	6862	TBXT	OMIM:182940
HP:0000951	Abnormality of the skin	79783	SUGCT	ORPHA:35706
HP:0000951	Abnormality of the skin	91179	SCARF2	OMIM:600920
HP:0000951	Abnormality of the skin	55209	SETD5	OMIM:615761
HP:0000951	Abnormality of the skin	1725	DHPS	OMIM:618480
HP:0000951	Abnormality of the skin	10584	COLEC10	OMIM:248340
HP:0000951	Abnormality of the skin	818	CAMK2G	OMIM:618522
HP:0000951	Abnormality of the skin	80776	B9D2	OMIM:614175
HP:0000951	Abnormality of the skin	8642	DCHS1	OMIM:601390
HP:0000951	Abnormality of the skin	10522	DEAF1	OMIM:615828
HP:0000951	Abnormality of the skin	56006	SMG9	OMIM:619995
HP:0000951	Abnormality of the skin	51633	OTUD6B	OMIM:617452
HP:0000951	Abnormality of the skin	51633	OTUD6B	ORPHA:505237
HP:0000951	Abnormality of the skin	1857	DVL3	ORPHA:3107
HP:0000951	Abnormality of the skin	1857	DVL3	OMIM:616894
HP:0000951	Abnormality of the skin	2535	FZD2	ORPHA:3107
HP:0000951	Abnormality of the skin	54499	TMCO1	OMIM:213980
HP:0000951	Abnormality of the skin	3090	HIC1	ORPHA:531
HP:0000951	Abnormality of the skin	5048	PAFAH1B1	ORPHA:531
HP:0000951	Abnormality of the skin	7531	YWHAE	ORPHA:531
HP:0000951	Abnormality of the skin	4123	MAN2C1	OMIM:619775
HP:0000951	Abnormality of the skin	5718	PSMD12	OMIM:617516
HP:0000951	Abnormality of the skin	55191	NADSYN1	OMIM:618845
HP:0000951	Abnormality of the skin	51422	PRKAG2	OMIM:261740
HP:0000951	Abnormality of the skin	5250	SLC25A3	ORPHA:91130
HP:0000951	Abnormality of the skin	5250	SLC25A3	OMIM:610773
HP:0000951	Abnormality of the skin	6334	SCN8A	ORPHA:306
HP:0000951	Abnormality of the skin	112476	PRRT2	ORPHA:306
HP:0000951	Abnormality of the skin	3786	KCNQ3	ORPHA:306
HP:0000951	Abnormality of the skin	6440	SFTPC	OMIM:610913
HP:0000951	Abnormality of the skin	6440	SFTPC	ORPHA:70587
HP:0000951	Abnormality of the skin	6439	SFTPB	OMIM:265120
HP:0000951	Abnormality of the skin	6439	SFTPB	ORPHA:70587
HP:0000951	Abnormality of the skin	7547	ZIC3	OMIM:306955
HP:0000951	Abnormality of the skin	5105	PCK1	OMIM:261680
HP:0000951	Abnormality of the skin	21	ABCA3	OMIM:610921
HP:0000951	Abnormality of the skin	21	ABCA3	ORPHA:70587
HP:0000951	Abnormality of the skin	118856	MMP21	OMIM:616749
HP:0000951	Abnormality of the skin	1528	CYB5A	OMIM:250790
HP:0000951	Abnormality of the skin	1528	CYB5A	ORPHA:621
HP:0000951	Abnormality of the skin	2898	GRIK2	OMIM:619580
HP:0000951	Abnormality of the skin	788	SLC25A20	ORPHA:159
HP:0000951	Abnormality of the skin	7092	TLL1	ORPHA:99106
HP:0000951	Abnormality of the skin	7092	TLL1	ORPHA:99103
HP:0000951	Abnormality of the skin	3028	HSD17B10	ORPHA:391428
HP:0000951	Abnormality of the skin	5337	PLD1	OMIM:212093
HP:0000951	Abnormality of the skin	57057	TBX20	ORPHA:99103
HP:0000951	Abnormality of the skin	1727	CYB5R3	OMIM:250800
HP:0000951	Abnormality of the skin	1727	CYB5R3	ORPHA:621
HP:0000951	Abnormality of the skin	8021	NUP214	OMIM:618426
HP:0000951	Abnormality of the skin	79770	TXNDC15	OMIM:619879
HP:0000951	Abnormality of the skin	60482	SLC5A7	ORPHA:98914
HP:0000951	Abnormality of the skin	4649	MYO9A	ORPHA:98914
HP:0000951	Abnormality of the skin	1305	COL13A1	ORPHA:98914
HP:0000951	Abnormality of the skin	1305	COL13A1	ORPHA:98913
HP:0000951	Abnormality of the skin	1103	CHAT	ORPHA:98914
HP:0000951	Abnormality of the skin	6576	SLC25A1	ORPHA:98914
HP:0000951	Abnormality of the skin	6843	VAMP1	ORPHA:98914
HP:0000951	Abnormality of the skin	375790	AGRN	ORPHA:98914
HP:0000951	Abnormality of the skin	375790	AGRN	ORPHA:98913
HP:0000951	Abnormality of the skin	127833	SYT2	ORPHA:98914
HP:0000951	Abnormality of the skin	6616	SNAP25	ORPHA:98914
HP:0000951	Abnormality of the skin	6329	SCN4A	ORPHA:98913
HP:0000951	Abnormality of the skin	1140	CHRNB1	ORPHA:98913
HP:0000951	Abnormality of the skin	1145	CHRNE	ORPHA:98913
HP:0000951	Abnormality of the skin	221264	AK9	ORPHA:98913
HP:0000951	Abnormality of the skin	4724	NDUFS4	OMIM:252010
HP:0000951	Abnormality of the skin	10568	SLC34A2	ORPHA:60025
HP:0000951	Abnormality of the skin	80199	FUZ	ORPHA:1136
HP:0000951	Abnormality of the skin	84705	GTPBP3	ORPHA:444013
HP:0000951	Abnormality of the skin	23586	RIGI	OMIM:616298
HP:0000951	Abnormality of the skin	10013	HDAC6	ORPHA:163966
HP:0000951	Abnormality of the skin	29969	MDFIC	OMIM:620014
HP:0000951	Abnormality of the skin	2332	FMR1	ORPHA:449291
HP:0000951	Abnormality of the skin	4998	ORC1	OMIM:224690
HP:0000951	Abnormality of the skin	375	ARF1	ORPHA:98892
HP:0000951	Abnormality of the skin	23327	NEDD4L	ORPHA:98892
HP:0000951	Abnormality of the skin	160418	TMTC3	ORPHA:98892
HP:0000951	Abnormality of the skin	10564	ARFGEF2	ORPHA:98892
HP:0000951	Abnormality of the skin	55780	ERMARD	ORPHA:98892
HP:0000951	Abnormality of the skin	26960	NBEA	OMIM:619157
HP:0000951	Abnormality of the skin	9759	HDAC4	ORPHA:1001
HP:0000951	Abnormality of the skin	9759	HDAC4	OMIM:600430
HP:0000951	Abnormality of the skin	4522	MTHFD1	OMIM:617780
HP:0000951	Abnormality of the skin	3021	H3-3B	OMIM:619721
HP:0000951	Abnormality of the skin	841	CASP8	OMIM:607271
HP:0000951	Abnormality of the skin	7780	SLC30A2	OMIM:608118
HP:0000951	Abnormality of the skin	7941	PLA2G7	OMIM:147050
HP:0000951	Abnormality of the skin	50615	IL21R	OMIM:147050
HP:0000951	Abnormality of the skin	3566	IL4R	OMIM:147050
HP:0000951	Abnormality of the skin	2206	MS4A2	OMIM:147050
HP:0000951	Abnormality of the skin	6601	SMARCC2	OMIM:618362
HP:0000951	Abnormality of the skin	3117	HLA-DQA1	OMIM:212750
HP:0000951	Abnormality of the skin	6821	SUOX	OMIM:272300
HP:0000951	Abnormality of the skin	5095	PCCA	OMIM:606054
HP:0000951	Abnormality of the skin	5096	PCCB	OMIM:606054
HP:0000951	Abnormality of the skin	4478	MSN	OMIM:300988
HP:0000951	Abnormality of the skin	51428	DDX41	OMIM:616871
HP:0000951	Abnormality of the skin	93627	TBCK	ORPHA:488632
HP:0000951	Abnormality of the skin	25942	SIN3A	OMIM:613406
HP:0000951	Abnormality of the skin	25914	RTTN	ORPHA:468631
HP:0000951	Abnormality of the skin	5294	PIK3CG	OMIM:619802
HP:0000951	Abnormality of the skin	5879	RAC1	OMIM:617751
HP:0000951	Abnormality of the skin	5879	RAC1	ORPHA:500159
HP:0000951	Abnormality of the skin	2678	GGT1	OMIM:231950
HP:0000951	Abnormality of the skin	203190	LGI3	OMIM:620007
HP:0000951	Abnormality of the skin	56160	NSMCE3	OMIM:617241
HP:0000951	Abnormality of the skin	8243	SMC1A	ORPHA:199
HP:0000951	Abnormality of the skin	8243	SMC1A	OMIM:300590
HP:0000951	Abnormality of the skin	55869	HDAC8	ORPHA:199
HP:0000951	Abnormality of the skin	55869	HDAC8	OMIM:300882
HP:0000951	Abnormality of the skin	2982	GUCY1A1	OMIM:615750
HP:0000951	Abnormality of the skin	2982	GUCY1A1	ORPHA:401945
HP:0000951	Abnormality of the skin	4774	NFIA	OMIM:613735
HP:0000951	Abnormality of the skin	4774	NFIA	ORPHA:401986
HP:0000951	Abnormality of the skin	55027	HEATR3	OMIM:620072
HP:0000951	Abnormality of the skin	79068	FTO	OMIM:612938
HP:0000951	Abnormality of the skin	5422	POLA1	OMIM:301220
HP:0000951	Abnormality of the skin	2533	FYB1	OMIM:273900
HP:0000951	Abnormality of the skin	11274	USP18	OMIM:617397
HP:0000951	Abnormality of the skin	55340	GIMAP5	OMIM:619463
HP:0000951	Abnormality of the skin	64858	DCLRE1B	OMIM:620133
HP:0000951	Abnormality of the skin	8313	AXIN2	ORPHA:401911
HP:0000951	Abnormality of the skin	83999	KREMEN1	OMIM:617392
HP:0000951	Abnormality of the skin	2121	EVC	OMIM:225500
HP:0000951	Abnormality of the skin	132884	EVC2	OMIM:225500
HP:0000951	Abnormality of the skin	3229	HOXC13	OMIM:614931
HP:0000951	Abnormality of the skin	57511	COG6	ORPHA:363523
HP:0000951	Abnormality of the skin	57511	COG6	OMIM:615328
HP:0000951	Abnormality of the skin	10159	ATP6AP2	OMIM:301045
HP:0000951	Abnormality of the skin	57539	WDR35	OMIM:613610
HP:0000951	Abnormality of the skin	10653	SPINT2	OMIM:270420
HP:0000951	Abnormality of the skin	10225	CD96	OMIM:211750
HP:0000951	Abnormality of the skin	16	AARS1	OMIM:619691
HP:0000951	Abnormality of the skin	51594	NBAS	OMIM:614800
HP:0000951	Abnormality of the skin	9742	IFT140	OMIM:266920
HP:0000951	Abnormality of the skin	112752	IFT43	OMIM:614099
HP:0000951	Abnormality of the skin	25871	NEPRO	OMIM:618853
HP:0000951	Abnormality of the skin	1954	MEGF8	OMIM:614976
HP:0000951	Abnormality of the skin	7528	YY1	ORPHA:506358
HP:0000951	Abnormality of the skin	10000	AKT3	OMIM:615937
HP:0000951	Abnormality of the skin	9056	SLC7A7	OMIM:222700
HP:0000951	Abnormality of the skin	23233	EXOC6B	ORPHA:93359
HP:0000951	Abnormality of the skin	79813	EHMT1	ORPHA:261652
HP:0000951	Abnormality of the skin	58508	KMT2C	ORPHA:261652
HP:0000951	Abnormality of the skin	6603	SMARCD2	OMIM:617475
HP:0000951	Abnormality of the skin	9469	CHST3	OMIM:245600
HP:0000951	Abnormality of the skin	26229	B3GAT3	OMIM:245600
HP:0000951	Abnormality of the skin	2245	FGD1	ORPHA:915
HP:0000951	Abnormality of the skin	9091	PIGQ	OMIM:618548
HP:0000951	Abnormality of the skin	6678	SPARC	OMIM:616507
HP:0000951	Abnormality of the skin	5076	PAX2	OMIM:120330
HP:0000951	Abnormality of the skin	4125	MAN2B1	ORPHA:309282
HP:0000951	Abnormality of the skin	25	ABL1	OMIM:617602
HP:0000951	Abnormality of the skin	2243	FGA	OMIM:202400
HP:0000951	Abnormality of the skin	2244	FGB	OMIM:202400
HP:0000951	Abnormality of the skin	2266	FGG	OMIM:202400
HP:0000951	Abnormality of the skin	54453	RIN2	ORPHA:217335
HP:0000951	Abnormality of the skin	54453	RIN2	OMIM:613075
HP:0000951	Abnormality of the skin	2120	ETV6	OMIM:616216
HP:0000951	Abnormality of the skin	10235	RASGRP2	OMIM:615888
HP:0000951	Abnormality of the skin	23218	NBEAL2	OMIM:139090
HP:0000951	Abnormality of the skin	23218	NBEAL2	ORPHA:721
HP:0000951	Abnormality of the skin	51206	GP6	OMIM:614201
HP:0000951	Abnormality of the skin	90993	CREB3L1	OMIM:616229
HP:0000951	Abnormality of the skin	2155	F7	ORPHA:327
HP:0000951	Abnormality of the skin	2155	F7	OMIM:227500
HP:0000951	Abnormality of the skin	4627	MYH9	OMIM:155100
HP:0000951	Abnormality of the skin	4627	MYH9	ORPHA:182050
HP:0000951	Abnormality of the skin	22852	ANKRD26	OMIM:188000
HP:0000951	Abnormality of the skin	11107	PRDM5	OMIM:614170
HP:0000951	Abnormality of the skin	11107	PRDM5	ORPHA:90354
HP:0000951	Abnormality of the skin	5328	PLAU	OMIM:601709
HP:0000951	Abnormality of the skin	342618	SLFN14	OMIM:616913
HP:0000951	Abnormality of the skin	540	ATP7B	ORPHA:905
HP:0000951	Abnormality of the skin	64805	P2RY12	OMIM:609821
HP:0000951	Abnormality of the skin	5345	SERPINF2	ORPHA:79
HP:0000951	Abnormality of the skin	5345	SERPINF2	OMIM:262850
HP:0000951	Abnormality of the skin	3998	LMAN1	ORPHA:35909
HP:0000951	Abnormality of the skin	90411	MCFD2	ORPHA:35909
HP:0000951	Abnormality of the skin	200931	SLC51A	OMIM:619484
HP:0000951	Abnormality of the skin	23387	SIK3	OMIM:618162
HP:0000951	Abnormality of the skin	11117	EMILIN1	OMIM:620080
HP:0000951	Abnormality of the skin	6915	TBXA2R	OMIM:614009
HP:0000951	Abnormality of the skin	2147	F2	OMIM:613679
HP:0000951	Abnormality of the skin	4629	MYH11	ORPHA:91387
HP:0000951	Abnormality of the skin	5592	PRKG1	ORPHA:91387
HP:0000951	Abnormality of the skin	2301	FOXE3	ORPHA:91387
HP:0000951	Abnormality of the skin	4144	MAT2A	ORPHA:91387
HP:0000951	Abnormality of the skin	23493	HEY2	ORPHA:91387
HP:0000951	Abnormality of the skin	8076	MFAP5	ORPHA:91387
HP:0000951	Abnormality of the skin	4638	MYLK	ORPHA:91387
HP:0000951	Abnormality of the skin	950	SCARB2	ORPHA:77259
HP:0000951	Abnormality of the skin	8328	GFI1B	OMIM:187900
HP:0000951	Abnormality of the skin	7450	VWF	OMIM:193400
HP:0000951	Abnormality of the skin	975	CD81	OMIM:613496
HP:0000951	Abnormality of the skin	975	CD81	ORPHA:1572
HP:0000951	Abnormality of the skin	7036	TFR2	OMIM:604250
HP:0000951	Abnormality of the skin	9630	GNA14	ORPHA:1063
HP:0000951	Abnormality of the skin	9103	FCGR2C	ORPHA:3002
HP:0000951	Abnormality of the skin	84876	ORAI1	ORPHA:3204
HP:0000951	Abnormality of the skin	717	C2	OMIM:217000
HP:0000951	Abnormality of the skin	5371	PML	ORPHA:520
HP:0000951	Abnormality of the skin	5914	RARA	ORPHA:520
HP:0000951	Abnormality of the skin	81608	FIP1L1	ORPHA:520
HP:0000951	Abnormality of the skin	64859	NABP1	ORPHA:520
HP:0000951	Abnormality of the skin	6777	STAT5B	ORPHA:520
HP:0000951	Abnormality of the skin	4926	NUMA1	ORPHA:520
HP:0000951	Abnormality of the skin	7704	ZBTB16	ORPHA:520
HP:0000951	Abnormality of the skin	23495	TNFRSF13B	ORPHA:1572
HP:0000951	Abnormality of the skin	115650	TNFRSF13C	ORPHA:1572
HP:0000951	Abnormality of the skin	1380	CR2	ORPHA:1572
HP:0000951	Abnormality of the skin	8742	TNFSF12	ORPHA:1572
HP:0000951	Abnormality of the skin	930	CD19	ORPHA:1572
HP:0000951	Abnormality of the skin	29851	ICOS	ORPHA:1572
HP:0000951	Abnormality of the skin	931	MS4A1	ORPHA:1572
HP:0000951	Abnormality of the skin	3207	HOXA11	OMIM:605432
HP:0000951	Abnormality of the skin	3078	CFHR1	OMIM:235400
HP:0000951	Abnormality of the skin	10878	CFHR3	OMIM:235400
HP:0000951	Abnormality of the skin	3155	HMGCL	ORPHA:20
HP:0000951	Abnormality of the skin	3155	HMGCL	OMIM:246450
HP:0000951	Abnormality of the skin	2562	GABRB3	ORPHA:64280
HP:0000951	Abnormality of the skin	8912	CACNA1H	ORPHA:64280
HP:0000951	Abnormality of the skin	8629	JRK	ORPHA:64280
HP:0000951	Abnormality of the skin	55240	STEAP3	OMIM:615234
HP:0000951	Abnormality of the skin	55240	STEAP3	ORPHA:300298
HP:0000951	Abnormality of the skin	84529	CDIN1	OMIM:615631
HP:0000951	Abnormality of the skin	55624	POMGNT1	OMIM:253280
HP:0000951	Abnormality of the skin	811	CALR	ORPHA:824
HP:0000951	Abnormality of the skin	811	CALR	OMIM:254450
HP:0000951	Abnormality of the skin	57679	ALS2	OMIM:606353
HP:0000951	Abnormality of the skin	113235	SLC46A1	ORPHA:90045
HP:0000951	Abnormality of the skin	23451	SF3B1	ORPHA:75564
HP:0000951	Abnormality of the skin	29887	SNX10	ORPHA:667
HP:0000951	Abnormality of the skin	8600	TNFSF11	ORPHA:667
HP:0000951	Abnormality of the skin	3073	HEXA	OMIM:272800
HP:0000951	Abnormality of the skin	9227	LRAT	OMIM:613341
HP:0000951	Abnormality of the skin	60509	AGBL5	OMIM:617023
HP:0000951	Abnormality of the skin	123016	TTC8	OMIM:613464
HP:0000951	Abnormality of the skin	10560	SLC19A2	ORPHA:49827
HP:0000951	Abnormality of the skin	6833	ABCC8	ORPHA:276575
HP:0000951	Abnormality of the skin	3767	KCNJ11	ORPHA:276580
HP:0000951	Abnormality of the skin	8029	CUBN	ORPHA:35858
HP:0000951	Abnormality of the skin	81693	AMN	ORPHA:35858
HP:0000951	Abnormality of the skin	164656	TMPRSS6	ORPHA:209981
HP:0000951	Abnormality of the skin	55154	MSTO1	OMIM:617675
HP:0000951	Abnormality of the skin	5805	PTS	ORPHA:13
HP:0000951	Abnormality of the skin	80324	PUS1	OMIM:600462
HP:0000951	Abnormality of the skin	3039	HBA1	ORPHA:163596
HP:0000951	Abnormality of the skin	3040	HBA2	ORPHA:163596
HP:0000951	Abnormality of the skin	10661	KLF1	ORPHA:46532
HP:0000951	Abnormality of the skin	3047	HBG1	ORPHA:46532
HP:0000951	Abnormality of the skin	3048	HBG2	ORPHA:46532
HP:0000951	Abnormality of the skin	84839	RAX2	OMIM:610381
HP:0000951	Abnormality of the skin	4976	OPA1	OMIM:165500
HP:0000951	Abnormality of the skin	2203	FBP1	ORPHA:348
HP:0000951	Abnormality of the skin	38	ACAT1	ORPHA:134
HP:0000951	Abnormality of the skin	595	CCND1	ORPHA:892
HP:0000951	Abnormality of the skin	9493	KIF23	ORPHA:98870
HP:0000951	Abnormality of the skin	29127	RACGAP1	ORPHA:98870
HP:0000951	Abnormality of the skin	57728	WDR19	OMIM:616307
HP:0000951	Abnormality of the skin	27249	MMADHC	ORPHA:79283
HP:0000951	Abnormality of the skin	84233	TMEM126A	OMIM:612989
HP:0000951	Abnormality of the skin	1719	DHFR	OMIM:613839
HP:0000951	Abnormality of the skin	6223	RPS19	OMIM:105650
HP:0000951	Abnormality of the skin	6223	RPS19	ORPHA:124
HP:0000951	Abnormality of the skin	6135	RPL11	ORPHA:124
HP:0000951	Abnormality of the skin	6138	RPL15	ORPHA:124
HP:0000951	Abnormality of the skin	6229	RPS24	ORPHA:124
HP:0000951	Abnormality of the skin	6125	RPL5	ORPHA:124
HP:0000951	Abnormality of the skin	6204	RPS10	ORPHA:124
HP:0000951	Abnormality of the skin	6224	RPS20	ORPHA:124
HP:0000951	Abnormality of the skin	6165	RPL35A	ORPHA:124
HP:0000951	Abnormality of the skin	6232	RPS27	ORPHA:124
HP:0000951	Abnormality of the skin	6231	RPS26	ORPHA:124
HP:0000951	Abnormality of the skin	11224	RPL35	ORPHA:124
HP:0000951	Abnormality of the skin	6160	RPL31	ORPHA:124
HP:0000951	Abnormality of the skin	6218	RPS17	ORPHA:124
HP:0000951	Abnormality of the skin	6201	RPS7	ORPHA:124
HP:0000951	Abnormality of the skin	6155	RPL27	ORPHA:124
HP:0000951	Abnormality of the skin	6154	RPL26	ORPHA:124
HP:0000951	Abnormality of the skin	6210	RPS15A	ORPHA:124
HP:0000951	Abnormality of the skin	90121	TSR2	ORPHA:124
HP:0000951	Abnormality of the skin	6141	RPL18	ORPHA:124
HP:0000951	Abnormality of the skin	6235	RPS29	ORPHA:124
HP:0000951	Abnormality of the skin	6234	RPS28	ORPHA:124
HP:0000951	Abnormality of the skin	6927	HNF1A	ORPHA:324575
HP:0000951	Abnormality of the skin	51067	YARS2	OMIM:613561
HP:0000951	Abnormality of the skin	7351	UCP2	ORPHA:276556
HP:0000951	Abnormality of the skin	51095	TRNT1	OMIM:616959
HP:0000951	Abnormality of the skin	9015	TAF1A	ORPHA:154
HP:0000951	Abnormality of the skin	7112	TMPO	ORPHA:154
HP:0000951	Abnormality of the skin	9464	HAND2	ORPHA:154
HP:0000951	Abnormality of the skin	4625	MYH7	ORPHA:154
HP:0000951	Abnormality of the skin	88	ACTN2	ORPHA:154
HP:0000951	Abnormality of the skin	10486	CAP2	ORPHA:154
HP:0000951	Abnormality of the skin	7168	TPM1	ORPHA:154
HP:0000951	Abnormality of the skin	7414	VCL	ORPHA:154
HP:0000951	Abnormality of the skin	70	ACTC1	ORPHA:154
HP:0000951	Abnormality of the skin	27063	ANKRD1	ORPHA:154
HP:0000951	Abnormality of the skin	8048	CSRP3	ORPHA:154
HP:0000951	Abnormality of the skin	1410	CRYAB	ORPHA:154
HP:0000951	Abnormality of the skin	7139	TNNT2	ORPHA:154
HP:0000951	Abnormality of the skin	1829	DSG2	ORPHA:154
HP:0000951	Abnormality of the skin	3910	LAMA4	ORPHA:154
HP:0000951	Abnormality of the skin	7273	TTN	ORPHA:154
HP:0000951	Abnormality of the skin	9531	BAG3	ORPHA:154
HP:0000951	Abnormality of the skin	5350	PLN	ORPHA:154
HP:0000951	Abnormality of the skin	91624	NEXN	ORPHA:154
HP:0000951	Abnormality of the skin	79717	PPCS	ORPHA:154
HP:0000951	Abnormality of the skin	5664	PSEN2	ORPHA:154
HP:0000951	Abnormality of the skin	4624	MYH6	ORPHA:154
HP:0000951	Abnormality of the skin	9529	BAG5	ORPHA:154
HP:0000951	Abnormality of the skin	4607	MYBPC3	ORPHA:154
HP:0000951	Abnormality of the skin	282996	RBM20	ORPHA:154
HP:0000951	Abnormality of the skin	7137	TNNI3	ORPHA:154
HP:0000951	Abnormality of the skin	11155	LDB3	ORPHA:154
HP:0000951	Abnormality of the skin	2274	FHL2	ORPHA:154
HP:0000951	Abnormality of the skin	6901	TAFAZZIN	ORPHA:154
HP:0000951	Abnormality of the skin	22845	DOLK	ORPHA:154
HP:0000951	Abnormality of the skin	1756	DMD	ORPHA:154
HP:0000951	Abnormality of the skin	57798	GATAD1	ORPHA:154
HP:0000951	Abnormality of the skin	7134	TNNC1	ORPHA:154
HP:0000951	Abnormality of the skin	84665	MYPN	ORPHA:154
HP:0000951	Abnormality of the skin	1674	DES	ORPHA:154
HP:0000951	Abnormality of the skin	6444	SGCD	ORPHA:154
HP:0000951	Abnormality of the skin	6331	SCN5A	ORPHA:154
HP:0000951	Abnormality of the skin	2218	FKTN	ORPHA:154
HP:0000951	Abnormality of the skin	8557	TCAP	ORPHA:154
HP:0000951	Abnormality of the skin	1824	DSC2	OMIM:610476
HP:0000951	Abnormality of the skin	6898	TAT	ORPHA:28378
HP:0000951	Abnormality of the skin	25959	KANK2	OMIM:616099
HP:0000951	Abnormality of the skin	57192	MCOLN1	ORPHA:578
HP:0000951	Abnormality of the skin	92840	REEP6	ORPHA:791
HP:0000951	Abnormality of the skin	6094	ROM1	ORPHA:791
HP:0000951	Abnormality of the skin	6017	RLBP1	ORPHA:791
HP:0000951	Abnormality of the skin	7401	CLRN1	ORPHA:791
HP:0000951	Abnormality of the skin	24	ABCA4	ORPHA:791
HP:0000951	Abnormality of the skin	130557	ZNF513	ORPHA:791
HP:0000951	Abnormality of the skin	582	BBS1	ORPHA:791
HP:0000951	Abnormality of the skin	92211	CDHR1	ORPHA:791
HP:0000951	Abnormality of the skin	23568	ARL2BP	ORPHA:791
HP:0000951	Abnormality of the skin	6121	RPE65	ORPHA:791
HP:0000951	Abnormality of the skin	54806	AHI1	ORPHA:791
HP:0000951	Abnormality of the skin	6101	RP1	ORPHA:791
HP:0000951	Abnormality of the skin	3419	IDH3A	ORPHA:791
HP:0000951	Abnormality of the skin	4751	NEK2	ORPHA:791
HP:0000951	Abnormality of the skin	346007	EYS	ORPHA:791
HP:0000951	Abnormality of the skin	8100	IFT88	ORPHA:791
HP:0000951	Abnormality of the skin	23020	SNRNP200	ORPHA:791
HP:0000951	Abnormality of the skin	762	CA4	ORPHA:791
HP:0000951	Abnormality of the skin	138050	HGSNAT	ORPHA:791
HP:0000951	Abnormality of the skin	196	AHR	ORPHA:791
HP:0000951	Abnormality of the skin	3614	IMPDH1	ORPHA:791
HP:0000951	Abnormality of the skin	6103	RPGR	ORPHA:791
HP:0000951	Abnormality of the skin	1406	CRX	ORPHA:791
HP:0000951	Abnormality of the skin	5148	PDE6G	ORPHA:791
HP:0000951	Abnormality of the skin	26160	IFT172	ORPHA:791
HP:0000951	Abnormality of the skin	26121	PRPF31	ORPHA:791
HP:0000951	Abnormality of the skin	583	BBS2	ORPHA:791
HP:0000951	Abnormality of the skin	4117	MAK	ORPHA:791
HP:0000951	Abnormality of the skin	25794	FSCN2	ORPHA:791
HP:0000951	Abnormality of the skin	375298	CERKL	ORPHA:791
HP:0000951	Abnormality of the skin	3420	IDH3B	ORPHA:791
HP:0000951	Abnormality of the skin	57670	KIAA1549	ORPHA:791
HP:0000951	Abnormality of the skin	7275	TUB	ORPHA:791
HP:0000951	Abnormality of the skin	24148	PRPF6	ORPHA:791
HP:0000951	Abnormality of the skin	23418	CRB1	ORPHA:791
HP:0000951	Abnormality of the skin	10461	MERTK	ORPHA:791
HP:0000951	Abnormality of the skin	57709	SLC7A14	ORPHA:791
HP:0000951	Abnormality of the skin	768206	PRCD	ORPHA:791
HP:0000951	Abnormality of the skin	7399	USH2A	ORPHA:791
HP:0000951	Abnormality of the skin	23370	ARHGEF18	ORPHA:791
HP:0000951	Abnormality of the skin	5949	RBP3	ORPHA:791
HP:0000951	Abnormality of the skin	6010	RHO	ORPHA:791
HP:0000951	Abnormality of the skin	6100	RP9	ORPHA:791
HP:0000951	Abnormality of the skin	10002	NR2E3	ORPHA:791
HP:0000951	Abnormality of the skin	84140	FAM161A	ORPHA:791
HP:0000951	Abnormality of the skin	55812	SPATA7	ORPHA:791
HP:0000951	Abnormality of the skin	403	ARL3	ORPHA:791
HP:0000951	Abnormality of the skin	5145	PDE6A	ORPHA:791
HP:0000951	Abnormality of the skin	10210	TOPORS	ORPHA:791
HP:0000951	Abnormality of the skin	8842	PROM1	ORPHA:791
HP:0000951	Abnormality of the skin	9128	PRPF4	ORPHA:791
HP:0000951	Abnormality of the skin	145226	RDH12	ORPHA:791
HP:0000951	Abnormality of the skin	50939	IMPG2	ORPHA:791
HP:0000951	Abnormality of the skin	49855	SCAPER	ORPHA:791
HP:0000951	Abnormality of the skin	2979	GUCA1B	ORPHA:791
HP:0000951	Abnormality of the skin	1259	CNGA1	ORPHA:791
HP:0000951	Abnormality of the skin	1258	CNGB1	ORPHA:791
HP:0000951	Abnormality of the skin	5961	PRPH2	ORPHA:791
HP:0000951	Abnormality of the skin	388939	PCARE	ORPHA:791
HP:0000951	Abnormality of the skin	7439	BEST1	ORPHA:791
HP:0000951	Abnormality of the skin	9785	DHX38	ORPHA:791
HP:0000951	Abnormality of the skin	7287	TULP1	ORPHA:791
HP:0000951	Abnormality of the skin	5995	RGR	ORPHA:791
HP:0000951	Abnormality of the skin	9129	PRPF3	ORPHA:791
HP:0000951	Abnormality of the skin	55975	KLHL7	ORPHA:791
HP:0000951	Abnormality of the skin	3617	IMPG1	ORPHA:791
HP:0000951	Abnormality of the skin	94137	RP1L1	ORPHA:791
HP:0000951	Abnormality of the skin	5158	PDE6B	ORPHA:791
HP:0000951	Abnormality of the skin	6102	RP2	ORPHA:791
HP:0000951	Abnormality of the skin	55857	KIZ	ORPHA:791
HP:0000951	Abnormality of the skin	64218	SEMA4A	ORPHA:791
HP:0000951	Abnormality of the skin	4901	NRL	ORPHA:791
HP:0000951	Abnormality of the skin	157657	CFAP418	ORPHA:791
HP:0000951	Abnormality of the skin	10594	PRPF8	ORPHA:791
HP:0000951	Abnormality of the skin	84100	ARL6	ORPHA:791
HP:0000951	Abnormality of the skin	6295	SAG	ORPHA:791
HP:0000951	Abnormality of the skin	79947	DHDDS	ORPHA:791
HP:0000951	Abnormality of the skin	23385	NCSTN	OMIM:142690
HP:0000951	Abnormality of the skin	144811	LACC1	ORPHA:85414
HP:0000951	Abnormality of the skin	144811	LACC1	OMIM:618795
HP:0000951	Abnormality of the skin	4282	MIF	ORPHA:85414
HP:0000951	Abnormality of the skin	8737	RIPK1	OMIM:618108
HP:0000951	Abnormality of the skin	55788	LMBRD1	OMIM:277380
HP:0000951	Abnormality of the skin	55788	LMBRD1	ORPHA:79284
HP:0000951	Abnormality of the skin	79631	EFL1	ORPHA:811
HP:0000951	Abnormality of the skin	51119	SBDS	ORPHA:811
HP:0000951	Abnormality of the skin	5994	RFXAP	ORPHA:572
HP:0000951	Abnormality of the skin	4261	CIITA	ORPHA:572
HP:0000951	Abnormality of the skin	5993	RFX5	ORPHA:572
HP:0000951	Abnormality of the skin	8625	RFXANK	ORPHA:572
HP:0000951	Abnormality of the skin	5699	PSMB10	OMIM:619175
HP:0000951	Abnormality of the skin	7128	TNFAIP3	OMIM:616744
HP:0000951	Abnormality of the skin	23152	CIC	OMIM:617600
HP:0000951	Abnormality of the skin	84701	COX4I2	OMIM:612714
HP:0000951	Abnormality of the skin	4069	LYZ	OMIM:105200
HP:0000951	Abnormality of the skin	5971	RELB	OMIM:617585
HP:0000951	Abnormality of the skin	5788	PTPRC	OMIM:619924
HP:0000951	Abnormality of the skin	5692	PSMB4	OMIM:617591
HP:0000951	Abnormality of the skin	5698	PSMB9	OMIM:617591
HP:0000951	Abnormality of the skin	2000	ELF4	OMIM:301074
HP:0000951	Abnormality of the skin	10892	MALT1	OMIM:615468
HP:0000951	Abnormality of the skin	9181	ARHGEF2	OMIM:617523
HP:0000951	Abnormality of the skin	6809	STX3	ORPHA:2290
HP:0000951	Abnormality of the skin	4645	MYO5B	ORPHA:2290
HP:0000951	Abnormality of the skin	4645	MYO5B	OMIM:619868
HP:0000951	Abnormality of the skin	80270	HSD3B7	ORPHA:79301
HP:0000951	Abnormality of the skin	5314	PKHD1	ORPHA:53035
HP:0000951	Abnormality of the skin	84936	ZFYVE19	OMIM:619849
HP:0000951	Abnormality of the skin	5774	PTPN3	ORPHA:70567
HP:0000951	Abnormality of the skin	51473	DCDC2	OMIM:617394
HP:0000951	Abnormality of the skin	1474	CST6	OMIM:618535
HP:0000951	Abnormality of the skin	63894	VIPAS39	OMIM:613404
HP:0000951	Abnormality of the skin	57003	CCDC47	OMIM:618268
HP:0000951	Abnormality of the skin	8482	SEMA7A	OMIM:619874
HP:0000951	Abnormality of the skin	23534	TNPO3	ORPHA:186
HP:0000951	Abnormality of the skin	6689	SPIB	ORPHA:186
HP:0000951	Abnormality of the skin	5450	POU2AF1	ORPHA:186
HP:0000951	Abnormality of the skin	9966	TNFSF15	ORPHA:186
HP:0000951	Abnormality of the skin	79258	MMEL1	ORPHA:186
HP:0000951	Abnormality of the skin	9414	TJP2	OMIM:607748
HP:0000951	Abnormality of the skin	54532	USP53	OMIM:619658
HP:0000951	Abnormality of the skin	133396	IL31RA	OMIM:613955
HP:0000951	Abnormality of the skin	375056	MIA3	OMIM:619269
HP:0000951	Abnormality of the skin	113220	KIF12	OMIM:619662
HP:0000951	Abnormality of the skin	3988	LIPA	ORPHA:75234
HP:0000951	Abnormality of the skin	26119	LDLRAP1	ORPHA:391665
HP:0000951	Abnormality of the skin	64240	ABCG5	ORPHA:391665
HP:0000951	Abnormality of the skin	144165	PRICKLE1	ORPHA:308
HP:0000951	Abnormality of the skin	1476	CSTB	ORPHA:308
HP:0000951	Abnormality of the skin	6096	RORB	OMIM:618357
HP:0000951	Abnormality of the skin	10845	CLPX	OMIM:618015
HP:0000951	Abnormality of the skin	1656	DDX6	OMIM:618653
HP:0000951	Abnormality of the skin	375748	ERCC6L2	OMIM:615715
HP:0000951	Abnormality of the skin	2222	FDFT1	OMIM:618156
HP:0000951	Abnormality of the skin	2212	FCGR2A	OMIM:152700
HP:0000951	Abnormality of the skin	2213	FCGR2B	OMIM:152700
HP:0000951	Abnormality of the skin	1773	DNASE1	OMIM:152700
HP:0000951	Abnormality of the skin	5144	PDE4D	ORPHA:950
HP:0000951	Abnormality of the skin	1139	CHRNA7	ORPHA:199318
HP:0000951	Abnormality of the skin	23512	SUZ12	OMIM:618786
HP:0000951	Abnormality of the skin	8643	PTCH2	ORPHA:377
HP:0000951	Abnormality of the skin	4784	NFIX	OMIM:602535
HP:0000951	Abnormality of the skin	2146	EZH2	OMIM:277590
HP:0000951	Abnormality of the skin	6237	RRAS	ORPHA:648
HP:0000951	Abnormality of the skin	6654	SOS1	ORPHA:648
HP:0000951	Abnormality of the skin	6655	SOS2	ORPHA:648
HP:0000951	Abnormality of the skin	5922	RASA2	ORPHA:648
HP:0000951	Abnormality of the skin	8726	EED	OMIM:617561
HP:0000951	Abnormality of the skin	55131	RBM28	OMIM:612079
HP:0000951	Abnormality of the skin	4352	MPL	ORPHA:3319
HP:0000951	Abnormality of the skin	7066	THPO	ORPHA:3319
HP:0000951	Abnormality of the skin	11285	B4GALT7	ORPHA:75496
HP:0000951	Abnormality of the skin	54888	NSUN2	ORPHA:235
HP:0000951	Abnormality of the skin	4308	TRPM1	OMIM:613216
HP:0000951	Abnormality of the skin	3425	IDUA	ORPHA:93473
HP:0000951	Abnormality of the skin	79644	SRD5A3	OMIM:612379
HP:0000951	Abnormality of the skin	1654	DDX3X	ORPHA:457260
HP:0000951	Abnormality of the skin	10484	SEC23A	ORPHA:50814
HP:0000951	Abnormality of the skin	9184	BUB3	ORPHA:1052
HP:0000951	Abnormality of the skin	699	BUB1	ORPHA:1052
HP:0000951	Abnormality of the skin	9702	CEP57	ORPHA:1052
HP:0000951	Abnormality of the skin	9319	TRIP13	ORPHA:1052
HP:0000951	Abnormality of the skin	701	BUB1B	ORPHA:1052
HP:0000951	Abnormality of the skin	85378	TUBGCP6	OMIM:251270
HP:0000951	Abnormality of the skin	7189	TRAF6	ORPHA:1810
HP:0000951	Abnormality of the skin	9719	ADAMTSL2	ORPHA:1901
HP:0000951	Abnormality of the skin	79053	ALG8	ORPHA:79325
HP:0000951	Abnormality of the skin	5605	MAP2K2	OMIM:615280
HP:0000951	Abnormality of the skin	5605	MAP2K2	ORPHA:1340
HP:0000951	Abnormality of the skin	8036	SHOC2	OMIM:607721
HP:0000951	Abnormality of the skin	5781	PTPN11	OMIM:151100
HP:0000951	Abnormality of the skin	5781	PTPN11	ORPHA:500
HP:0000951	Abnormality of the skin	5594	MAPK1	OMIM:619087
HP:0000951	Abnormality of the skin	5894	RAF1	OMIM:611554
HP:0000951	Abnormality of the skin	5894	RAF1	OMIM:611553
HP:0000951	Abnormality of the skin	5894	RAF1	ORPHA:500
HP:0000951	Abnormality of the skin	5604	MAP2K1	ORPHA:1340
HP:0000951	Abnormality of the skin	1616	DAXX	ORPHA:100075
HP:0000951	Abnormality of the skin	2934	GSN	ORPHA:85448
HP:0000951	Abnormality of the skin	11284	PNKP	ORPHA:459033
HP:0000951	Abnormality of the skin	5590	PRKCZ	ORPHA:1606
HP:0000951	Abnormality of the skin	2563	GABRD	ORPHA:1606
HP:0000951	Abnormality of the skin	8510	MMP23B	ORPHA:1606
HP:0000951	Abnormality of the skin	7798	LUZP1	ORPHA:1606
HP:0000951	Abnormality of the skin	6497	SKI	ORPHA:1606
HP:0000951	Abnormality of the skin	10630	PDPN	ORPHA:1606
HP:0000951	Abnormality of the skin	10277	UBE4B	ORPHA:1606
HP:0000951	Abnormality of the skin	8514	KCNAB2	ORPHA:1606
HP:0000951	Abnormality of the skin	473	RERE	ORPHA:1606
HP:0000951	Abnormality of the skin	63976	PRDM16	ORPHA:1606
HP:0000951	Abnormality of the skin	54897	CASZ1	ORPHA:1606
HP:0000951	Abnormality of the skin	1729	DIAPH1	ORPHA:2573
HP:0000951	Abnormality of the skin	59	ACTA2	ORPHA:2573
HP:0000951	Abnormality of the skin	57674	RNF213	ORPHA:2573
HP:0000951	Abnormality of the skin	83605	CCM2	OMIM:603284
HP:0000951	Abnormality of the skin	3981	LIG4	OMIM:606593
HP:0000951	Abnormality of the skin	6888	TALDO1	ORPHA:101028
HP:0000951	Abnormality of the skin	6888	TALDO1	OMIM:606003
HP:0000951	Abnormality of the skin	4010	LMX1B	ORPHA:495818
HP:0000951	Abnormality of the skin	6812	STXBP1	ORPHA:495818
HP:0000951	Abnormality of the skin	2022	ENG	OMIM:187300
HP:0000951	Abnormality of the skin	8813	DPM1	OMIM:608799
HP:0000951	Abnormality of the skin	84992	PIGY	ORPHA:247262
HP:0000951	Abnormality of the skin	84720	PIGO	ORPHA:247262
HP:0000951	Abnormality of the skin	93210	PGAP3	ORPHA:247262
HP:0000951	Abnormality of the skin	284098	PIGW	ORPHA:247262
HP:0000951	Abnormality of the skin	27315	PGAP2	ORPHA:247262
HP:0000951	Abnormality of the skin	55650	PIGV	ORPHA:247262
HP:0000951	Abnormality of the skin	9487	PIGL	ORPHA:247262
HP:0000951	Abnormality of the skin	57654	UVSSA	OMIM:614640
HP:0000951	Abnormality of the skin	340061	STING1	OMIM:615934
HP:0000951	Abnormality of the skin	4361	MRE11	OMIM:604391
HP:0000951	Abnormality of the skin	659	BMPR2	OMIM:178600
HP:0000951	Abnormality of the skin	2658	GDF2	OMIM:615506
HP:0000951	Abnormality of the skin	165918	RNF168	ORPHA:420741
HP:0000951	Abnormality of the skin	4089	SMAD4	OMIM:175050
HP:0000951	Abnormality of the skin	4668	NAGA	ORPHA:79279
HP:0000951	Abnormality of the skin	650	BMP2	OMIM:235200
HP:0000951	Abnormality of the skin	4758	NEU1	ORPHA:93400
HP:0000951	Abnormality of the skin	1497	CTNS	OMIM:219800
HP:0000951	Abnormality of the skin	5122	PCSK1	ORPHA:71528
HP:0000951	Abnormality of the skin	7355	SLC35A2	ORPHA:356961
HP:0000951	Abnormality of the skin	5443	POMC	ORPHA:71526
HP:0000951	Abnormality of the skin	84942	WDR73	OMIM:251300
HP:0000951	Abnormality of the skin	7681	MKRN3	OMIM:176270
HP:0000951	Abnormality of the skin	3653	IPW	OMIM:176270
HP:0000951	Abnormality of the skin	54551	MAGEL2	OMIM:176270
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177904
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177901
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:398069
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177910
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:98754
HP:0000951	Abnormality of the skin	791114	PWRN1	OMIM:176270
HP:0000951	Abnormality of the skin	100033413	SNORD116-1	OMIM:176270
HP:0000951	Abnormality of the skin	8924	HERC2	OMIM:176270
HP:0000951	Abnormality of the skin	145624	PWAR1	OMIM:176270
HP:0000951	Abnormality of the skin	23742	NPAP1	OMIM:176270
HP:0000951	Abnormality of the skin	338433	SNORD115-1	OMIM:176270
HP:0000951	Abnormality of the skin	64324	NSD1	ORPHA:821
HP:0000951	Abnormality of the skin	29072	SETD2	ORPHA:821
HP:0000951	Abnormality of the skin	10297	APC2	ORPHA:821
HP:0000951	Abnormality of the skin	1638	DCT	OMIM:619165
HP:0000951	Abnormality of the skin	6492	SIM1	ORPHA:398079
HP:0000951	Abnormality of the skin	28960	DCPS	OMIM:616459
HP:0000951	Abnormality of the skin	5053	PAH	ORPHA:79254
HP:0000951	Abnormality of the skin	79158	GNPTAB	OMIM:252500
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:98794
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:98795
HP:0000951	Abnormality of the skin	7337	UBE3A	OMIM:105830
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:411511
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:411515
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:177904
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:177901
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:177910
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:177907
HP:0000951	Abnormality of the skin	6638	SNRPN	OMIM:105830
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:98754
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:411515
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177904
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177901
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177910
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:98754
HP:0000951	Abnormality of the skin	114034	TOE1	OMIM:614969
HP:0000951	Abnormality of the skin	26258	BLOC1S6	OMIM:614171
HP:0000951	Abnormality of the skin	56244	BTNL2	ORPHA:797
HP:0000951	Abnormality of the skin	1186	CLCN7	OMIM:618541
HP:0000951	Abnormality of the skin	538	ATP7A	OMIM:309400
HP:0000951	Abnormality of the skin	4644	MYO5A	ORPHA:33445
HP:0000951	Abnormality of the skin	4644	MYO5A	OMIM:214450
HP:0000951	Abnormality of the skin	374879	ZNF699	OMIM:619488
HP:0000951	Abnormality of the skin	84343	HPS3	OMIM:614072
HP:0000951	Abnormality of the skin	79803	HPS6	OMIM:614075
HP:0000951	Abnormality of the skin	55717	WDR11	OMIM:620237
HP:0000951	Abnormality of the skin	28956	LAMTOR2	OMIM:610798
HP:0000951	Abnormality of the skin	57724	EPG5	OMIM:242840
HP:0000951	Abnormality of the skin	57724	EPG5	ORPHA:1493
HP:0000951	Abnormality of the skin	7030	TFE3	OMIM:301066
HP:0000951	Abnormality of the skin	5873	RAB27A	OMIM:607624
HP:0000951	Abnormality of the skin	348	APOE	ORPHA:158029
HP:0000951	Abnormality of the skin	26503	SLC17A5	OMIM:269920
HP:0000951	Abnormality of the skin	875	CBS	OMIM:236200
HP:0000951	Abnormality of the skin	10195	ALG3	ORPHA:79321
HP:0000951	Abnormality of the skin	3991	LIPE	OMIM:615980
HP:0000951	Abnormality of the skin	57194	ATP10A	ORPHA:411515
HP:0000951	Abnormality of the skin	51151	SLC45A2	ORPHA:79435
HP:0000951	Abnormality of the skin	344	APOC2	OMIM:207750
HP:0000951	Abnormality of the skin	3990	LIPC	OMIM:614025
HP:0000951	Abnormality of the skin	3990	LIPC	ORPHA:140905
HP:0000951	Abnormality of the skin	338328	GPIHBP1	OMIM:615947
HP:0000951	Abnormality of the skin	4023	LPL	OMIM:238600
HP:0000951	Abnormality of the skin	2717	GLA	OMIM:301500
HP:0000951	Abnormality of the skin	2717	GLA	ORPHA:324
HP:0000951	Abnormality of the skin	4126	MANBA	OMIM:248510
HP:0000951	Abnormality of the skin	5295	PIK3R1	OMIM:269880
HP:0000951	Abnormality of the skin	29957	SLC25A24	OMIM:612289
HP:0000951	Abnormality of the skin	92579	G6PC3	OMIM:612541
HP:0000951	Abnormality of the skin	8815	BANF1	OMIM:614008
HP:0000951	Abnormality of the skin	5831	PYCR1	OMIM:612940
HP:0000951	Abnormality of the skin	5831	PYCR1	OMIM:614438
HP:0000951	Abnormality of the skin	5468	PPARG	ORPHA:528
HP:0000951	Abnormality of the skin	5468	PPARG	OMIM:604367
HP:0000951	Abnormality of the skin	10555	AGPAT2	ORPHA:528
HP:0000951	Abnormality of the skin	284119	CAVIN1	ORPHA:528
HP:0000951	Abnormality of the skin	26580	BSCL2	ORPHA:528
HP:0000951	Abnormality of the skin	2353	FOS	ORPHA:528
HP:0000951	Abnormality of the skin	25839	COG4	OMIM:618150
HP:0000951	Abnormality of the skin	221496	LEMD2	OMIM:619322
HP:0000951	Abnormality of the skin	91252	SLC39A13	OMIM:612350
HP:0000951	Abnormality of the skin	7424	VEGFC	OMIM:615907
HP:0000951	Abnormality of the skin	212	ALAS2	OMIM:300751
HP:0000951	Abnormality of the skin	6595	SMARCA2	ORPHA:2728
HP:0000951	Abnormality of the skin	54880	BCOR	OMIM:309800
HP:0000951	Abnormality of the skin	6023	RMRP	ORPHA:39041
HP:0000951	Abnormality of the skin	55636	CHD7	ORPHA:39041
HP:0000951	Abnormality of the skin	5896	RAG1	ORPHA:39041
HP:0000951	Abnormality of the skin	5896	RAG1	OMIM:603554
HP:0000951	Abnormality of the skin	5897	RAG2	ORPHA:39041
HP:0000951	Abnormality of the skin	5897	RAG2	OMIM:603554
HP:0000951	Abnormality of the skin	100	ADA	ORPHA:39041
HP:0000951	Abnormality of the skin	3575	IL7R	ORPHA:39041
HP:0000951	Abnormality of the skin	3575	IL7R	ORPHA:169154
HP:0000951	Abnormality of the skin	5551	PRF1	ORPHA:540
HP:0000951	Abnormality of the skin	8676	STX11	ORPHA:540
HP:0000951	Abnormality of the skin	201294	UNC13D	ORPHA:540
HP:0000951	Abnormality of the skin	6813	STXBP2	ORPHA:540
HP:0000951	Abnormality of the skin	10999	SLC27A4	OMIM:608649
HP:0000951	Abnormality of the skin	162	AP1B1	OMIM:242150
HP:0000951	Abnormality of the skin	2137	EXTL3	OMIM:617425
HP:0000951	Abnormality of the skin	26154	ABCA12	ORPHA:457
HP:0000951	Abnormality of the skin	26154	ABCA12	ORPHA:79394
HP:0000951	Abnormality of the skin	26154	ABCA12	ORPHA:313
HP:0000951	Abnormality of the skin	57609	DIP2B	OMIM:136630
HP:0000951	Abnormality of the skin	4047	LSS	OMIM:618840
HP:0000951	Abnormality of the skin	10616	RBCK1	OMIM:615895
HP:0000951	Abnormality of the skin	151516	ASPRV1	ORPHA:313
HP:0000951	Abnormality of the skin	6820	SULT2B1	ORPHA:313
HP:0000951	Abnormality of the skin	63915	BLOC1S5	OMIM:619172
HP:0000951	Abnormality of the skin	8943	AP3D1	OMIM:617050
HP:0000951	Abnormality of the skin	83938	LRMDA	OMIM:615179
HP:0000951	Abnormality of the skin	11152	WDR45	OMIM:615179
HP:0000951	Abnormality of the skin	8546	AP3B1	OMIM:608233
HP:0000951	Abnormality of the skin	89781	HPS4	OMIM:614073
HP:0000951	Abnormality of the skin	11234	HPS5	OMIM:614074
HP:0000951	Abnormality of the skin	778	CACNA1F	OMIM:300600
HP:0000951	Abnormality of the skin	388552	BLOC1S3	OMIM:614077
HP:0000951	Abnormality of the skin	84062	DTNBP1	OMIM:614076
HP:0000951	Abnormality of the skin	249	ALPL	OMIM:241500
HP:0000951	Abnormality of the skin	249	ALPL	OMIM:241510
HP:0000951	Abnormality of the skin	54790	TET2	ORPHA:98850
HP:0000951	Abnormality of the skin	54790	TET2	ORPHA:98849
HP:0000951	Abnormality of the skin	867	CBL	ORPHA:98850
HP:0000951	Abnormality of the skin	861	RUNX1	ORPHA:98850
HP:0000951	Abnormality of the skin	6427	SRSF2	ORPHA:98850
HP:0000951	Abnormality of the skin	6427	SRSF2	ORPHA:98849
HP:0000951	Abnormality of the skin	356	FASLG	ORPHA:3261
HP:0000951	Abnormality of the skin	356	FASLG	OMIM:601859
HP:0000951	Abnormality of the skin	843	CASP10	ORPHA:3261
HP:0000951	Abnormality of the skin	843	CASP10	OMIM:603909
HP:0000951	Abnormality of the skin	10125	RASGRP1	ORPHA:3261
HP:0000951	Abnormality of the skin	10262	SF3B4	OMIM:154400
HP:0000951	Abnormality of the skin	114548	NLRP3	OMIM:617772
HP:0000951	Abnormality of the skin	114548	NLRP3	ORPHA:575
HP:0000951	Abnormality of the skin	114548	NLRP3	ORPHA:47045
HP:0000951	Abnormality of the skin	114548	NLRP3	ORPHA:1451
HP:0000951	Abnormality of the skin	114548	NLRP3	OMIM:120100
HP:0000951	Abnormality of the skin	118429	ANTXR2	ORPHA:2176
HP:0000951	Abnormality of the skin	7454	WAS	ORPHA:906
HP:0000951	Abnormality of the skin	7456	WIPF1	ORPHA:906
HP:0000951	Abnormality of the skin	3119	HLA-DQB1	ORPHA:703
HP:0000951	Abnormality of the skin	7512	XPNPEP2	ORPHA:100057
HP:0000951	Abnormality of the skin	58484	NLRC4	OMIM:616050
HP:0000951	Abnormality of the skin	58484	NLRC4	OMIM:616115
HP:0000951	Abnormality of the skin	224	ALDH3A2	ORPHA:816
HP:0000951	Abnormality of the skin	91662	NLRP12	OMIM:611762
HP:0000951	Abnormality of the skin	710	SERPING1	ORPHA:100050
HP:0000951	Abnormality of the skin	6785	ELOVL4	ORPHA:1955
HP:0000951	Abnormality of the skin	1369	CPN1	OMIM:212070
HP:0000951	Abnormality of the skin	50943	FOXP3	ORPHA:37042
HP:0000951	Abnormality of the skin	80216	ALPK1	OMIM:614979
HP:0000951	Abnormality of the skin	2161	F12	ORPHA:330
HP:0000951	Abnormality of the skin	81846	SBF2	ORPHA:99956
HP:0000951	Abnormality of the skin	3636	INPPL1	OMIM:258480
HP:0000951	Abnormality of the skin	81031	SLC2A10	OMIM:208050
HP:0000951	Abnormality of the skin	10367	MICU1	OMIM:615673
HP:0000951	Abnormality of the skin	6651	SON	ORPHA:500150
HP:0000951	Abnormality of the skin	3376	IARS1	ORPHA:541423
HP:0000951	Abnormality of the skin	55699	IARS2	OMIM:616007
HP:0000951	Abnormality of the skin	641	BLM	ORPHA:125
HP:0000951	Abnormality of the skin	84946	LTV1	OMIM:620199
HP:0000951	Abnormality of the skin	5317	PKP1	OMIM:604536
HP:0000951	Abnormality of the skin	5317	PKP1	ORPHA:158668
HP:0000951	Abnormality of the skin	3728	JUP	ORPHA:158687
HP:0000951	Abnormality of the skin	3728	JUP	OMIM:601214
HP:0000951	Abnormality of the skin	3675	ITGA3	OMIM:614748
HP:0000951	Abnormality of the skin	113189	CHST14	OMIM:601776
HP:0000951	Abnormality of the skin	831	CAST	OMIM:616295
HP:0000951	Abnormality of the skin	126792	B3GALT6	OMIM:271640
HP:0000951	Abnormality of the skin	1281	COL3A1	OMIM:130050
HP:0000951	Abnormality of the skin	23086	EXPH5	OMIM:615028
HP:0000951	Abnormality of the skin	3848	KRT1	OMIM:146590
HP:0000951	Abnormality of the skin	1371	CPOX	ORPHA:79273
HP:0000951	Abnormality of the skin	3077	HFE	OMIM:176100
HP:0000951	Abnormality of the skin	4221	MEN1	OMIM:131100
HP:0000951	Abnormality of the skin	657	BMPR1A	ORPHA:79076
HP:0000951	Abnormality of the skin	1027	CDKN1B	ORPHA:276152
HP:0000951	Abnormality of the skin	217	ALDH2	OMIM:610251
HP:0000951	Abnormality of the skin	23141	ANKLE2	OMIM:616681
HP:0000951	Abnormality of the skin	112858	TP53RK	OMIM:617730
HP:0000951	Abnormality of the skin	23135	KDM6B	OMIM:618505
HP:0000951	Abnormality of the skin	60	ACTB	ORPHA:64755
HP:0000951	Abnormality of the skin	3569	IL6	OMIM:148000
HP:0000951	Abnormality of the skin	56983	POGLUT1	ORPHA:79145
HP:0000951	Abnormality of the skin	23509	POFUT1	ORPHA:79145
HP:0000951	Abnormality of the skin	55851	PSENEN	ORPHA:79145
HP:0000951	Abnormality of the skin	1161	ERCC8	ORPHA:90321
HP:0000951	Abnormality of the skin	1161	ERCC8	ORPHA:90322
HP:0000951	Abnormality of the skin	2067	ERCC1	ORPHA:90322
HP:0000951	Abnormality of the skin	50485	SMARCAL1	ORPHA:1830
HP:0000951	Abnormality of the skin	50485	SMARCAL1	OMIM:242900
HP:0000951	Abnormality of the skin	488	ATP2A2	ORPHA:218
HP:0000951	Abnormality of the skin	488	ATP2A2	OMIM:124200
HP:0000951	Abnormality of the skin	4689	NCF4	ORPHA:379
HP:0000951	Abnormality of the skin	79415	CYBC1	ORPHA:379
HP:0000951	Abnormality of the skin	8869	ST3GAL5	OMIM:609056
HP:0000951	Abnormality of the skin	54	ACP5	OMIM:607944
HP:0000951	Abnormality of the skin	716	C1S	ORPHA:75392
HP:0000951	Abnormality of the skin	3643	INSR	OMIM:246200
HP:0000951	Abnormality of the skin	1663	DDX11	OMIM:613398
HP:0000951	Abnormality of the skin	23328	SASH1	OMIM:618373
HP:0000951	Abnormality of the skin	10457	GPNMB	OMIM:617920
HP:0000951	Abnormality of the skin	2707	GJB3	ORPHA:317
HP:0000951	Abnormality of the skin	2531	KDSR	ORPHA:317
HP:0000951	Abnormality of the skin	127534	GJB4	ORPHA:317
HP:0000951	Abnormality of the skin	126410	CYP4F22	OMIM:604777
HP:0000951	Abnormality of the skin	4014	LORICRIN	OMIM:604117
HP:0000951	Abnormality of the skin	4014	LORICRIN	ORPHA:79395
HP:0000951	Abnormality of the skin	9076	CLDN1	OMIM:607626
HP:0000951	Abnormality of the skin	7051	TGM1	OMIM:242300
HP:0000951	Abnormality of the skin	7051	TGM1	ORPHA:100976
HP:0000951	Abnormality of the skin	388698	FLG2	OMIM:618084
HP:0000951	Abnormality of the skin	3939	LDHA	ORPHA:284426
HP:0000951	Abnormality of the skin	348938	NIPAL4	OMIM:612281
HP:0000951	Abnormality of the skin	50814	NSDHL	OMIM:308050
HP:0000951	Abnormality of the skin	64834	ELOVL1	OMIM:618527
HP:0000951	Abnormality of the skin	79651	RHBDF2	OMIM:148500
HP:0000951	Abnormality of the skin	1041	CDSN	ORPHA:90368
HP:0000951	Abnormality of the skin	121391	KRT74	ORPHA:90368
HP:0000951	Abnormality of the skin	79092	CARD14	OMIM:173200
HP:0000951	Abnormality of the skin	79092	CARD14	OMIM:602723
HP:0000951	Abnormality of the skin	26525	IL36RN	OMIM:614204
HP:0000951	Abnormality of the skin	51371	POMP	OMIM:601952
HP:0000951	Abnormality of the skin	54795	TRPM4	OMIM:618531
HP:0000951	Abnormality of the skin	162514	TRPV3	OMIM:614594
HP:0000951	Abnormality of the skin	10654	PMVK	OMIM:175800
HP:0000951	Abnormality of the skin	22861	NLRP1	OMIM:615225
HP:0000951	Abnormality of the skin	51360	MBTPS2	OMIM:300918
HP:0000951	Abnormality of the skin	11005	SPINK5	OMIM:256500
HP:0000951	Abnormality of the skin	64065	PERP	OMIM:619208
HP:0000951	Abnormality of the skin	2744	GLS	OMIM:618339
HP:0000951	Abnormality of the skin	4597	MVD	OMIM:614714
HP:0000951	Abnormality of the skin	5624	PROC	OMIM:176860
HP:0000951	Abnormality of the skin	5624	PROC	ORPHA:745
HP:0000951	Abnormality of the skin	5627	PROS1	OMIM:612336
HP:0000951	Abnormality of the skin	116519	APOA5	OMIM:145750
HP:0000951	Abnormality of the skin	1144	CHRND	OMIM:253290
HP:0000951	Abnormality of the skin	1134	CHRNA1	OMIM:253290
HP:0000951	Abnormality of the skin	399	RHOH	OMIM:618307
HP:0000951	Abnormality of the skin	3785	KCNQ2	ORPHA:439218
HP:0000951	Abnormality of the skin	30817	ADGRE2	OMIM:125630
HP:0000951	Abnormality of the skin	1387	CREBBP	OMIM:180849
HP:0000951	Abnormality of the skin	2033	EP300	OMIM:180849
HP:0000951	Abnormality of the skin	9791	PTDSS1	OMIM:151050
HP:0000951	Abnormality of the skin	11128	POLR3A	OMIM:264090
HP:0000951	Abnormality of the skin	11128	POLR3A	ORPHA:3455
HP:0000951	Abnormality of the skin	64421	DCLRE1C	ORPHA:275
HP:0000951	Abnormality of the skin	4558	MT-TF	ORPHA:550
HP:0000951	Abnormality of the skin	4572	MT-TQ	ORPHA:550
HP:0000951	Abnormality of the skin	4512	MT-CO1	ORPHA:550
HP:0000951	Abnormality of the skin	4513	MT-CO2	ORPHA:550
HP:0000951	Abnormality of the skin	4514	MT-CO3	ORPHA:550
HP:0000951	Abnormality of the skin	4578	MT-TW	ORPHA:550
HP:0000951	Abnormality of the skin	4540	MT-ND5	ORPHA:550
HP:0000951	Abnormality of the skin	4541	MT-ND6	ORPHA:550
HP:0000951	Abnormality of the skin	4535	MT-ND1	ORPHA:550
HP:0000951	Abnormality of the skin	4538	MT-ND4	ORPHA:550
HP:0000951	Abnormality of the skin	4567	MT-TL1	ORPHA:550
HP:0000951	Abnormality of the skin	4574	MT-TS1	ORPHA:550
HP:0000951	Abnormality of the skin	4575	MT-TS2	ORPHA:550
HP:0000951	Abnormality of the skin	4564	MT-TH	ORPHA:550
HP:0000951	Abnormality of the skin	847	CAT	ORPHA:926
HP:0000951	Abnormality of the skin	5336	PLCG2	OMIM:614468
HP:0000951	Abnormality of the skin	987	LRBA	OMIM:614700
HP:0000951	Abnormality of the skin	23126	POGZ	ORPHA:468678
HP:0000951	Abnormality of the skin	25778	DSTYK	ORPHA:101003
HP:0000951	Abnormality of the skin	25778	DSTYK	OMIM:270750
HP:0000951	Abnormality of the skin	27022	FOXD3	OMIM:607836
HP:0000951	Abnormality of the skin	28755	TRAC	OMIM:615387
HP:0000951	Abnormality of the skin	56259	CTNNBL1	OMIM:619846
HP:0000951	Abnormality of the skin	23065	EMC1	ORPHA:480898
HP:0000951	Abnormality of the skin	5205	ATP8B1	OMIM:243300
HP:0000951	Abnormality of the skin	8647	ABCB11	OMIM:601847
HP:0000951	Abnormality of the skin	28234	SLCO1B3	ORPHA:3111
HP:0000951	Abnormality of the skin	10599	SLCO1B1	ORPHA:3111
HP:0000951	Abnormality of the skin	6710	SPTB	OMIM:617948
HP:0000951	Abnormality of the skin	6521	SLC4A1	ORPHA:3202
HP:0000951	Abnormality of the skin	9780	PIEZO1	ORPHA:3202
HP:0000951	Abnormality of the skin	3783	KCNN4	ORPHA:3202
HP:0000951	Abnormality of the skin	6005	RHAG	ORPHA:3203
HP:0000951	Abnormality of the skin	2615	LRRC32	OMIM:619074
HP:0000951	Abnormality of the skin	84905	ZNF341	OMIM:618282
HP:0000951	Abnormality of the skin	3572	IL6ST	OMIM:619752
HP:0000951	Abnormality of the skin	5238	PGM3	ORPHA:443811
HP:0000951	Abnormality of the skin	84433	CARD11	OMIM:617638
HP:0000951	Abnormality of the skin	22800	RRAS2	OMIM:618624
HP:0000951	Abnormality of the skin	3570	IL6R	OMIM:618944
HP:0000951	Abnormality of the skin	8456	FOXN1	OMIM:618806
HP:0000951	Abnormality of the skin	10060	ABCC9	OMIM:619719
HP:0000951	Abnormality of the skin	3514	IGKC	ORPHA:183675
HP:0000951	Abnormality of the skin	3501	IGHG2	ORPHA:183675
HP:0000951	Abnormality of the skin	1080	CFTR	ORPHA:498359
HP:0000951	Abnormality of the skin	10847	SRCAP	OMIM:136140
HP:0000951	Abnormality of the skin	6340	SCNN1G	ORPHA:171876
HP:0000951	Abnormality of the skin	6337	SCNN1A	ORPHA:171876
HP:0000951	Abnormality of the skin	6338	SCNN1B	ORPHA:171876
HP:0000951	Abnormality of the skin	23102	TBC1D2B	ORPHA:397973
HP:0000951	Abnormality of the skin	22880	MORC2	ORPHA:466768
HP:0000951	Abnormality of the skin	2783	GNB2	OMIM:619503
HP:0000951	Abnormality of the skin	3716	JAK1	OMIM:618999
HP:0000951	Abnormality of the skin	3717	JAK2	OMIM:133100
HP:0000951	Abnormality of the skin	10019	SH2B3	OMIM:133100
HP:0000951	Abnormality of the skin	2057	EPOR	OMIM:133100
HP:0000951	Abnormality of the skin	7428	VHL	OMIM:263400
HP:0000951	Abnormality of the skin	6578	SLCO2A1	OMIM:614441
HP:0000951	Abnormality of the skin	6578	SLCO2A1	OMIM:167100
HP:0000951	Abnormality of the skin	6578	SLCO2A1	ORPHA:2796
HP:0000951	Abnormality of the skin	7922	SLC39A7	OMIM:619693
HP:0000951	Abnormality of the skin	686	BTD	OMIM:253260
HP:0000951	Abnormality of the skin	79755	ZNF750	OMIM:610227
HP:0000951	Abnormality of the skin	64087	MCCC2	OMIM:210210
HP:0000951	Abnormality of the skin	9939	RBM8A	OMIM:274000
HP:0000951	Abnormality of the skin	3248	HPGD	OMIM:259100
HP:0000951	Abnormality of the skin	3248	HPGD	ORPHA:2796
HP:0000951	Abnormality of the skin	1312	COMT	ORPHA:567
HP:0000951	Abnormality of the skin	221037	JMJD1C	ORPHA:567
HP:0000951	Abnormality of the skin	2812	GP1BB	ORPHA:567
HP:0000951	Abnormality of the skin	6239	RREB1	ORPHA:567
HP:0000951	Abnormality of the skin	6899	TBX1	ORPHA:567
HP:0000951	Abnormality of the skin	6899	TBX1	OMIM:188400
HP:0000951	Abnormality of the skin	7290	HIRA	ORPHA:567
HP:0000951	Abnormality of the skin	9632	SEC24C	ORPHA:567
HP:0000951	Abnormality of the skin	7353	UFD1	ORPHA:567
HP:0000951	Abnormality of the skin	421	ARVCF	ORPHA:567
HP:0000951	Abnormality of the skin	11322	TMC6	ORPHA:302
HP:0000951	Abnormality of the skin	3574	IL7	ORPHA:302
HP:0000951	Abnormality of the skin	147138	TMC8	ORPHA:302
HP:0000951	Abnormality of the skin	10519	CIB1	ORPHA:302
HP:0000951	Abnormality of the skin	5277	PIGA	OMIM:300868
HP:0000951	Abnormality of the skin	5277	PIGA	OMIM:301072
HP:0000951	Abnormality of the skin	146206	CARMIL2	OMIM:618131
HP:0000951	Abnormality of the skin	10758	TRAF3IP2	OMIM:615527
HP:0000951	Abnormality of the skin	7086	TKT	ORPHA:488618
HP:0000951	Abnormality of the skin	4920	ROR2	OMIM:268310
HP:0000951	Abnormality of the skin	4920	ROR2	ORPHA:1507
HP:0000951	Abnormality of the skin	22827	PUF60	ORPHA:508498
HP:0000951	Abnormality of the skin	80267	EDEM3	OMIM:619493
HP:0000951	Abnormality of the skin	1028	CDKN1C	OMIM:130650
HP:0000951	Abnormality of the skin	10984	KCNQ1OT1	OMIM:130650
HP:0000951	Abnormality of the skin	3481	IGF2	OMIM:130650
HP:0000951	Abnormality of the skin	3481	IGF2	ORPHA:231140
HP:0000951	Abnormality of the skin	3784	KCNQ1	OMIM:130650
HP:0000951	Abnormality of the skin	5290	PIK3CA	ORPHA:60040
HP:0000951	Abnormality of the skin	91754	NEK9	ORPHA:64754
HP:0000951	Abnormality of the skin	6804	STX1A	ORPHA:904
HP:0000951	Abnormality of the skin	7461	CLIP2	ORPHA:904
HP:0000951	Abnormality of the skin	84277	DNAJC30	ORPHA:904
HP:0000951	Abnormality of the skin	8468	FKBP6	ORPHA:904
HP:0000951	Abnormality of the skin	5982	RFC2	ORPHA:904
HP:0000951	Abnormality of the skin	2969	GTF2I	ORPHA:904
HP:0000951	Abnormality of the skin	3984	LIMK1	ORPHA:904
HP:0000951	Abnormality of the skin	9569	GTF2IRD1	ORPHA:904
HP:0000951	Abnormality of the skin	155382	VPS37D	ORPHA:904
HP:0000951	Abnormality of the skin	155368	METTL27	ORPHA:904
HP:0000951	Abnormality of the skin	114049	BUD23	ORPHA:904
HP:0000951	Abnormality of the skin	7458	EIF4H	ORPHA:904
HP:0000951	Abnormality of the skin	84163	GTF2IRD2	ORPHA:904
HP:0000951	Abnormality of the skin	9275	BCL7B	ORPHA:904
HP:0000951	Abnormality of the skin	26608	TBL2	ORPHA:904
HP:0000951	Abnormality of the skin	653361	NCF1	ORPHA:904
HP:0000951	Abnormality of the skin	135886	TMEM270	ORPHA:904
HP:0000951	Abnormality of the skin	51085	MLXIPL	ORPHA:904
HP:0000951	Abnormality of the skin	9031	BAZ1B	ORPHA:904
HP:0000951	Abnormality of the skin	2260	FGFR1	ORPHA:2396
HP:0000951	Abnormality of the skin	64359	NXN	ORPHA:1507
HP:0000951	Abnormality of the skin	2776	GNAQ	OMIM:163000
HP:0000951	Abnormality of the skin	2776	GNAQ	ORPHA:624
HP:0000951	Abnormality of the skin	7474	WNT5A	OMIM:180700
HP:0000951	Abnormality of the skin	1855	DVL1	OMIM:180700
HP:0000951	Abnormality of the skin	283120	H19	ORPHA:231140
HP:0000951	Abnormality of the skin	171023	ASXL1	ORPHA:97297
HP:0000951	Abnormality of the skin	171023	ASXL1	OMIM:605039
HP:0000951	Abnormality of the skin	1836	SLC26A2	OMIM:222600
HP:0000951	Abnormality of the skin	7043	TGFB3	OMIM:615582
HP:0000951	Abnormality of the skin	26040	SETBP1	OMIM:616078
HP:0000951	Abnormality of the skin	4591	TRIM37	OMIM:253250
HP:0000951	Abnormality of the skin	1545	CYP1B1	ORPHA:98976
HP:0000951	Abnormality of the skin	4053	LTBP2	ORPHA:98976
HP:0000951	Abnormality of the skin	4653	MYOC	ORPHA:98976
HP:0000951	Abnormality of the skin	7010	TEK	ORPHA:98976
HP:0000951	Abnormality of the skin	9126	SMC3	OMIM:610759
HP:0000951	Abnormality of the skin	57167	SALL4	ORPHA:233
HP:0000951	Abnormality of the skin	9935	MAFB	ORPHA:233
HP:0000951	Abnormality of the skin	1123	CHN1	ORPHA:233
HP:0000951	Abnormality of the skin	4254	KITLG	OMIM:145250
HP:0000951	Abnormality of the skin	4254	KITLG	ORPHA:895
HP:0000951	Abnormality of the skin	4157	MC1R	ORPHA:626
HP:0000951	Abnormality of the skin	1235	CCR6	ORPHA:220402
HP:0000951	Abnormality of the skin	79932	KIAA0319L	ORPHA:220402
HP:0000951	Abnormality of the skin	1490	CCN2	ORPHA:220402
HP:0000951	Abnormality of the skin	3663	IRF5	ORPHA:220402
HP:0000951	Abnormality of the skin	857	CAV1	ORPHA:220402
HP:0000951	Abnormality of the skin	3123	HLA-DRB1	ORPHA:220402
HP:0000951	Abnormality of the skin	6925	TCF4	ORPHA:2896
HP:0000951	Abnormality of the skin	8517	IKBKG	ORPHA:464
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:613266
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:609136
HP:0000951	Abnormality of the skin	6663	SOX10	ORPHA:895
HP:0000951	Abnormality of the skin	6663	SOX10	ORPHA:163746
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:611584
HP:0000951	Abnormality of the skin	1908	EDN3	OMIM:613265
HP:0000951	Abnormality of the skin	6608	SMO	ORPHA:1553
HP:0000951	Abnormality of the skin	1910	EDNRB	OMIM:277580
HP:0000951	Abnormality of the skin	1910	EDNRB	ORPHA:895
HP:0000951	Abnormality of the skin	326	AIRE	ORPHA:3453
HP:0000951	Abnormality of the skin	6591	SNAI2	ORPHA:2884
HP:0000951	Abnormality of the skin	6591	SNAI2	ORPHA:895
HP:0000951	Abnormality of the skin	3815	KIT	ORPHA:2884
HP:0000951	Abnormality of the skin	695	BTK	ORPHA:47
HP:0000951	Abnormality of the skin	4286	MITF	ORPHA:895
HP:0000951	Abnormality of the skin	7299	TYR	ORPHA:895
HP:0000951	Abnormality of the skin	5077	PAX3	ORPHA:894
HP:0000951	Abnormality of the skin	5077	PAX3	OMIM:148820
HP:0000951	Abnormality of the skin	340024	SLC6A19	ORPHA:2116
HP:0000951	Abnormality of the skin	57393	CLTRN	ORPHA:2116
HP:0000951	Abnormality of the skin	5116	PCNT	ORPHA:2637
HP:0000951	Abnormality of the skin	2263	FGFR2	ORPHA:207
HP:0000951	Abnormality of the skin	2077	ERF	ORPHA:207
HP:0000951	Abnormality of the skin	2581	GALC	ORPHA:206436
HP:0000951	Abnormality of the skin	5660	PSAP	ORPHA:206436
HP:0000951	Abnormality of the skin	672	BRCA1	ORPHA:84
HP:0000951	Abnormality of the skin	10459	MAD2L2	ORPHA:84
HP:0000951	Abnormality of the skin	7516	XRCC2	ORPHA:84
HP:0000951	Abnormality of the skin	29089	UBE2T	ORPHA:84
HP:0000951	Abnormality of the skin	675	BRCA2	ORPHA:84
HP:0000951	Abnormality of the skin	55120	FANCL	ORPHA:84
HP:0000951	Abnormality of the skin	2177	FANCD2	ORPHA:84
HP:0000951	Abnormality of the skin	2175	FANCA	ORPHA:84
HP:0000951	Abnormality of the skin	2187	FANCB	ORPHA:84
HP:0000951	Abnormality of the skin	2176	FANCC	ORPHA:84
HP:0000951	Abnormality of the skin	2178	FANCE	ORPHA:84
HP:0000951	Abnormality of the skin	2188	FANCF	ORPHA:84
HP:0000951	Abnormality of the skin	2189	FANCG	ORPHA:84
HP:0000951	Abnormality of the skin	5888	RAD51	ORPHA:84
HP:0000951	Abnormality of the skin	5889	RAD51C	ORPHA:84
HP:0000951	Abnormality of the skin	55159	RFWD3	ORPHA:84
HP:0000951	Abnormality of the skin	83990	BRIP1	ORPHA:84
HP:0000951	Abnormality of the skin	57697	FANCM	ORPHA:84
HP:0000951	Abnormality of the skin	79728	PALB2	ORPHA:84
HP:0000951	Abnormality of the skin	84464	SLX4	ORPHA:84
HP:0000951	Abnormality of the skin	2072	ERCC4	ORPHA:84
HP:0000951	Abnormality of the skin	2072	ERCC4	ORPHA:910
HP:0000951	Abnormality of the skin	55215	FANCI	ORPHA:84
HP:0000951	Abnormality of the skin	54539	NDUFB11	ORPHA:2556
HP:0000951	Abnormality of the skin	3052	HCCS	ORPHA:2556
HP:0000951	Abnormality of the skin	10483	SEC23B	ORPHA:201
HP:0000951	Abnormality of the skin	5728	PTEN	ORPHA:201
HP:0000951	Abnormality of the skin	6390	SDHB	ORPHA:201
HP:0000951	Abnormality of the skin	6392	SDHD	ORPHA:201
HP:0000951	Abnormality of the skin	6391	SDHC	ORPHA:201
HP:0000951	Abnormality of the skin	207	AKT1	ORPHA:201
HP:0000951	Abnormality of the skin	205717	USF3	ORPHA:201
HP:0000951	Abnormality of the skin	100144748	KLLN	ORPHA:201
HP:0000951	Abnormality of the skin	117581	TWIST2	ORPHA:1807
HP:0000951	Abnormality of the skin	10058	ABCB6	ORPHA:241
HP:0000951	Abnormality of the skin	80169	CTC1	ORPHA:1775
HP:0000951	Abnormality of the skin	26277	TINF2	ORPHA:1775
HP:0000951	Abnormality of the skin	55651	NHP2	ORPHA:1775
HP:0000951	Abnormality of the skin	79650	USB1	ORPHA:1775
HP:0000951	Abnormality of the skin	55135	WRAP53	ORPHA:1775
HP:0000951	Abnormality of the skin	51750	RTEL1	ORPHA:1775
HP:0000951	Abnormality of the skin	4869	NPM1	ORPHA:1775
HP:0000951	Abnormality of the skin	7012	TERC	ORPHA:1775
HP:0000951	Abnormality of the skin	55505	NOP10	ORPHA:1775
HP:0000951	Abnormality of the skin	5073	PARN	ORPHA:1775
HP:0000951	Abnormality of the skin	7015	TERT	ORPHA:1775
HP:0000951	Abnormality of the skin	1736	DKC1	ORPHA:1775
HP:0000951	Abnormality of the skin	7298	TYMS	ORPHA:1775
HP:0000951	Abnormality of the skin	355	FAS	ORPHA:3437
HP:0000951	Abnormality of the skin	26191	PTPN22	ORPHA:3437
HP:0000951	Abnormality of the skin	2475	MTOR	ORPHA:457485
HP:0000951	Abnormality of the skin	84168	ANTXR1	ORPHA:2067
HP:0000951	Abnormality of the skin	1493	CTLA4	ORPHA:2584
HP:0000951	Abnormality of the skin	940	CD28	ORPHA:2584
HP:0000951	Abnormality of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0000951	Abnormality of the skin	2068	ERCC2	ORPHA:910
HP:0000951	Abnormality of the skin	7507	XPA	ORPHA:910
HP:0000951	Abnormality of the skin	2071	ERCC3	ORPHA:910
HP:0000951	Abnormality of the skin	7508	XPC	ORPHA:910
HP:0000951	Abnormality of the skin	1643	DDB2	ORPHA:910
HP:0000951	Abnormality of the skin	2073	ERCC5	ORPHA:910
HP:0000951	Abnormality of the skin	1075	CTSC	ORPHA:678
HP:0000951	Abnormality of the skin	7703	PCGF2	OMIM:618371
HP:0000951	Abnormality of the skin	284058	KANSL1	ORPHA:363965
HP:0000951	Abnormality of the skin	284058	KANSL1	ORPHA:363958
HP:0000951	Abnormality of the skin	6794	STK11	OMIM:155600
HP:0000951	Abnormality of the skin	1019	CDK4	OMIM:609048
HP:0000951	Abnormality of the skin	2261	FGFR3	OMIM:162900
HP:0000951	Abnormality of the skin	4893	NRAS	OMIM:162900
HP:0000951	Abnormality of the skin	3265	HRAS	OMIM:162900
HP:0000951	Abnormality of the skin	4210	MEFV	ORPHA:342
HP:0000951	Abnormality of the skin	4210	MEFV	OMIM:249100
HP:0000951	Abnormality of the skin	4210	MEFV	OMIM:134610
HP:0000951	Abnormality of the skin	3832	KIF11	ORPHA:2526
HP:0000951	Abnormality of the skin	9508	ADAMTS3	ORPHA:2136
HP:0000951	Abnormality of the skin	147372	CCBE1	ORPHA:2136
HP:0000951	Abnormality of the skin	147372	CCBE1	OMIM:235510
HP:0000951	Abnormality of the skin	79633	FAT4	ORPHA:2136
HP:0000951	Abnormality of the skin	7132	TNFRSF1A	OMIM:142680
HP:0000951	Abnormality of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0000951	Abnormality of the skin	2324	FLT4	ORPHA:79452
HP:0000951	Abnormality of the skin	57165	GJC2	ORPHA:79452
HP:0000951	Abnormality of the skin	374393	FAM111B	OMIM:615704
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:89838
HP:0000951	Abnormality of the skin	3861	KRT14	OMIM:131760
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:79400
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:69087
HP:0000951	Abnormality of the skin	3861	KRT14	OMIM:131900
HP:0000951	Abnormality of the skin	3861	KRT14	OMIM:131800
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:79396
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:79397
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:79399
HP:0000951	Abnormality of the skin	55612	FERMT1	ORPHA:2908
HP:0000951	Abnormality of the skin	5339	PLEC	OMIM:226730
HP:0000951	Abnormality of the skin	5339	PLEC	OMIM:226670
HP:0000951	Abnormality of the skin	5339	PLEC	ORPHA:158684
HP:0000951	Abnormality of the skin	3691	ITGB4	OMIM:226730
HP:0000951	Abnormality of the skin	3691	ITGB4	ORPHA:158684
HP:0000951	Abnormality of the skin	3691	ITGB4	ORPHA:79402
HP:0000951	Abnormality of the skin	3691	ITGB4	ORPHA:251393
HP:0000951	Abnormality of the skin	3852	KRT5	OMIM:131760
HP:0000951	Abnormality of the skin	3852	KRT5	ORPHA:79400
HP:0000951	Abnormality of the skin	3852	KRT5	ORPHA:79396
HP:0000951	Abnormality of the skin	3852	KRT5	ORPHA:79397
HP:0000951	Abnormality of the skin	3852	KRT5	ORPHA:79399
HP:0000951	Abnormality of the skin	8481	OFD1	ORPHA:2750
HP:0000951	Abnormality of the skin	8481	OFD1	OMIM:311200
HP:0000951	Abnormality of the skin	56916	SMARCAD1	OMIM:129200
HP:0000951	Abnormality of the skin	56916	SMARCAD1	ORPHA:1658
HP:0000951	Abnormality of the skin	1540	CYLD	OMIM:605041
HP:0000951	Abnormality of the skin	3909	LAMA3	ORPHA:79402
HP:0000951	Abnormality of the skin	3909	LAMA3	OMIM:226700
HP:0000951	Abnormality of the skin	1308	COL17A1	ORPHA:79402
HP:0000951	Abnormality of the skin	1308	COL17A1	ORPHA:79406
HP:0000951	Abnormality of the skin	1308	COL17A1	ORPHA:251393
HP:0000951	Abnormality of the skin	3918	LAMC2	ORPHA:79402
HP:0000951	Abnormality of the skin	3918	LAMC2	OMIM:226700
HP:0000951	Abnormality of the skin	3914	LAMB3	ORPHA:79402
HP:0000951	Abnormality of the skin	3914	LAMB3	OMIM:226700
HP:0000951	Abnormality of the skin	1294	COL7A1	OMIM:604129
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:79408
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:79409
HP:0000951	Abnormality of the skin	1294	COL7A1	OMIM:226600
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:231568
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:89842
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:158673
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:89843
HP:0000951	Abnormality of the skin	1294	COL7A1	OMIM:131750
HP:0000951	Abnormality of the skin	1294	COL7A1	OMIM:131705
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:79410
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:79411
HP:0000951	Abnormality of the skin	4312	MMP1	ORPHA:79408
HP:0000951	Abnormality of the skin	4312	MMP1	OMIM:226600
HP:0000951	Abnormality of the skin	3977	LIFR	OMIM:601559
HP:0000951	Abnormality of the skin	5498	PPOX	ORPHA:79473
HP:0000951	Abnormality of the skin	5727	PTCH1	OMIM:109400
HP:0000951	Abnormality of the skin	285203	EOGT	OMIM:615297
HP:0000951	Abnormality of the skin	285203	EOGT	ORPHA:974
HP:0000951	Abnormality of the skin	4851	NOTCH1	OMIM:616028
HP:0000951	Abnormality of the skin	4851	NOTCH1	ORPHA:974
HP:0000951	Abnormality of the skin	3655	ITGA6	ORPHA:79403
HP:0000951	Abnormality of the skin	7020	TFAP2A	OMIM:113620
HP:0000951	Abnormality of the skin	284252	KCTD1	OMIM:181270
HP:0000951	Abnormality of the skin	1832	DSP	OMIM:609638
HP:0000951	Abnormality of the skin	3845	KRAS	OMIM:600268
HP:0000951	Abnormality of the skin	1349	COX7B	OMIM:300887
HP:0000951	Abnormality of the skin	6872	TAF1	OMIM:300966
HP:0000951	Abnormality of the skin	3313	HSPA9	OMIM:616854
HP:0000951	Abnormality of the skin	57572	DOCK6	OMIM:614219
HP:0000951	Abnormality of the skin	57572	DOCK6	ORPHA:974
HP:0000951	Abnormality of the skin	3516	RBPJ	OMIM:614814
HP:0000951	Abnormality of the skin	3516	RBPJ	ORPHA:974
HP:0000951	Abnormality of the skin	57514	ARHGAP31	ORPHA:974
HP:0000951	Abnormality of the skin	54567	DLL4	ORPHA:974
HP:0000951	Abnormality of the skin	526	ATP6V1B2	ORPHA:79499
HP:0000951	Abnormality of the skin	2165	F13B	ORPHA:331
HP:0000951	Abnormality of the skin	2162	F13A1	ORPHA:331
HP:0000951	Abnormality of the skin	5880	RAC2	ORPHA:183707
HP:0000951	Abnormality of the skin	5880	RAC2	OMIM:608203
HP:0000951	Abnormality of the skin	3689	ITGB2	OMIM:116920
HP:0000951	Abnormality of the skin	84196	USP48	ORPHA:96253
HP:0000951	Abnormality of the skin	7157	TP53	ORPHA:96253
HP:0000951	Abnormality of the skin	9101	USP8	ORPHA:96253
HP:0000951	Abnormality of the skin	9101	USP8	OMIM:219090
HP:0000951	Abnormality of the skin	64072	CDH23	ORPHA:96253
HP:0000951	Abnormality of the skin	2908	NR3C1	ORPHA:96253
HP:0000951	Abnormality of the skin	673	BRAF	ORPHA:96253
HP:0000951	Abnormality of the skin	546	ATRX	ORPHA:96253
HP:0000951	Abnormality of the skin	3835	KIF22	OMIM:603546
HP:0000951	Abnormality of the skin	1277	COL1A1	OMIM:619115
HP:0000951	Abnormality of the skin	1277	COL1A1	ORPHA:287
HP:0000951	Abnormality of the skin	1277	COL1A1	OMIM:130060
HP:0000951	Abnormality of the skin	5351	PLOD1	OMIM:225400
HP:0000951	Abnormality of the skin	5351	PLOD1	ORPHA:1900
HP:0000951	Abnormality of the skin	2629	GBA1	ORPHA:2072
HP:0000951	Abnormality of the skin	165	AEBP1	OMIM:618000
HP:0000951	Abnormality of the skin	4803	NGF	ORPHA:64752
HP:0000951	Abnormality of the skin	4914	NTRK1	ORPHA:64752
HP:0000951	Abnormality of the skin	4914	NTRK1	OMIM:256800
HP:0000951	Abnormality of the skin	2157	F8	ORPHA:169802
HP:0000951	Abnormality of the skin	4000	LMNA	OMIM:212112
HP:0000951	Abnormality of the skin	29940	DSE	OMIM:615539
HP:0000951	Abnormality of the skin	2006	ELN	OMIM:123700
HP:0000951	Abnormality of the skin	10516	FBLN5	OMIM:219100
HP:0000951	Abnormality of the skin	1289	COL5A1	ORPHA:287
HP:0000951	Abnormality of the skin	1289	COL5A1	OMIM:130000
HP:0000951	Abnormality of the skin	1290	COL5A2	ORPHA:287
HP:0000951	Abnormality of the skin	1303	COL12A1	ORPHA:536516
HP:0000951	Abnormality of the skin	7148	TNXB	OMIM:606408
HP:0000951	Abnormality of the skin	5054	SERPINE1	ORPHA:465
HP:0000951	Abnormality of the skin	715	C1R	OMIM:130080
HP:0000951	Abnormality of the skin	9509	ADAMTS2	OMIM:225410
HP:0000951	Abnormality of the skin	633	BGN	OMIM:300989
HP:0000951	Abnormality of the skin	1278	COL1A2	ORPHA:230851
HP:0000951	Abnormality of the skin	1278	COL1A2	OMIM:619120
HP:0000951	Abnormality of the skin	4921	DDR2	OMIM:618175
HP:0000951	Abnormality of the skin	3075	CFH	ORPHA:244242
HP:0000951	Abnormality of the skin	3426	CFI	ORPHA:244242
HP:0000951	Abnormality of the skin	4179	CD46	ORPHA:244242
HP:0000951	Abnormality of the skin	101101692	HELLPAR	ORPHA:244242
HP:0000951	Abnormality of the skin	11280	SCN11A	OMIM:615548
HP:0000951	Abnormality of the skin	9049	AIP	OMIM:219090
HP:0000951	Abnormality of the skin	2697	GJA1	ORPHA:1010
HP:0000951	Abnormality of the skin	9731	CEP104	OMIM:619988
HP:0000951	Abnormality of the skin	10558	SPTLC1	ORPHA:36386
HP:0000951	Abnormality of the skin	25923	ATL3	ORPHA:36386
HP:0000951	Abnormality of the skin	9517	SPTLC2	ORPHA:36386
HP:0000951	Abnormality of the skin	51062	ATL1	ORPHA:36386
HP:0000951	Abnormality of the skin	4313	MMP2	ORPHA:371428
HP:0000951	Abnormality of the skin	4323	MMP14	ORPHA:371428
HP:0000951	Abnormality of the skin	4927	NUP88	ORPHA:994
HP:0000951	Abnormality of the skin	7846	TUBA1A	ORPHA:994
HP:0000951	Abnormality of the skin	4654	MYOD1	ORPHA:994
HP:0000951	Abnormality of the skin	4593	MUSK	ORPHA:994
HP:0000951	Abnormality of the skin	5913	RAPSN	ORPHA:994
HP:0000951	Abnormality of the skin	6572	SLC18A3	ORPHA:994
HP:0000951	Abnormality of the skin	285489	DOK7	ORPHA:994
HP:0000951	Abnormality of the skin	57538	ALPK3	OMIM:618052
HP:0000951	Abnormality of the skin	3339	HSPG2	OMIM:224410
HP:0000951	Abnormality of the skin	3339	HSPG2	ORPHA:1865
HP:0000951	Abnormality of the skin	55640	FLVCR2	OMIM:225790
HP:0000951	Abnormality of the skin	60681	FKBP10	OMIM:259450
HP:0000951	Abnormality of the skin	60681	FKBP10	ORPHA:2771
HP:0000951	Abnormality of the skin	5352	PLOD2	ORPHA:2771
HP:0000951	Abnormality of the skin	5352	PLOD2	OMIM:609220
HP:0000951	Abnormality of the skin	26227	PHGDH	OMIM:256520
HP:0000951	Abnormality of the skin	10082	GPC6	OMIM:258315
HP:0000951	Abnormality of the skin	1146	CHRNG	OMIM:265000
HP:0000951	Abnormality of the skin	1146	CHRNG	ORPHA:2990
HP:0000951	Abnormality of the skin	1947	EFNB1	OMIM:304110
HP:0000951	Abnormality of the skin	1147	CHUK	OMIM:619339
HP:0000951	Abnormality of the skin	57211	ADGRG6	OMIM:616503
HP:0000951	Abnormality of the skin	4621	MYH3	ORPHA:2990
HP:0000951	Abnormality of the skin	54101	RIPK4	OMIM:263650
HP:0000951	Abnormality of the skin	9563	H6PD	OMIM:604931
HP:0000951	Abnormality of the skin	9051	PSTPIP1	OMIM:604416
HP:0000951	Abnormality of the skin	9051	PSTPIP1	ORPHA:69126
HP:0000951	Abnormality of the skin	331	XIAP	OMIM:300635
HP:0000951	Abnormality of the skin	54361	WNT4	ORPHA:247768
HP:0000951	Abnormality of the skin	54361	WNT4	OMIM:158330
HP:0000951	Abnormality of the skin	285590	SH3PXD2B	ORPHA:137834
HP:0000951	Abnormality of the skin	285590	SH3PXD2B	OMIM:249420
HP:0000951	Abnormality of the skin	9060	PAPSS2	OMIM:612847
HP:0000951	Abnormality of the skin	2099	ESR1	ORPHA:785
HP:0000951	Abnormality of the skin	2099	ESR1	OMIM:615363
HP:0000951	Abnormality of the skin	1584	CYP11B1	ORPHA:90795
HP:0000951	Abnormality of the skin	1893	ECM1	ORPHA:530
HP:0000951	Abnormality of the skin	9663	LPIN2	ORPHA:77297
HP:0000951	Abnormality of the skin	1201	CLN3	ORPHA:228346
HP:0000951	Abnormality of the skin	3973	LHCGR	ORPHA:3000
HP:0000951	Abnormality of the skin	83550	GPR101	ORPHA:963
HP:0000951	Abnormality of the skin	64131	XYLT1	ORPHA:370930
HP:0000951	Abnormality of the skin	4212	MEIS2	ORPHA:261190
HP:0000951	Abnormality of the skin	175	AGA	OMIM:208400
HP:0000951	Abnormality of the skin	367	AR	ORPHA:99429
HP:0000951	Abnormality of the skin	149233	IL23R	ORPHA:117
HP:0000951	Abnormality of the skin	6775	STAT4	ORPHA:117
HP:0000951	Abnormality of the skin	3586	IL10	ORPHA:117
HP:0000951	Abnormality of the skin	1230	CCR1	ORPHA:117
HP:0000951	Abnormality of the skin	3592	IL12A	ORPHA:117
HP:0000951	Abnormality of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0000951	Abnormality of the skin	3106	HLA-B	ORPHA:117
HP:0000951	Abnormality of the skin	7099	TLR4	ORPHA:117
HP:0000951	Abnormality of the skin	3459	IFNGR1	ORPHA:117
HP:0000951	Abnormality of the skin	720	C4A	ORPHA:117
HP:0000951	Abnormality of the skin	337867	UBAC2	ORPHA:117
HP:0000951	Abnormality of the skin	51752	ERAP1	ORPHA:117
HP:0000951	Abnormality of the skin	8302	KLRC4	ORPHA:117
HP:0000951	Abnormality of the skin	23474	ETHE1	ORPHA:51188
HP:0000951	Abnormality of the skin	23474	ETHE1	OMIM:602473
HP:0000951	Abnormality of the skin	8518	ELP1	OMIM:223900
HP:0000951	Abnormality of the skin	8518	ELP1	ORPHA:1764
HP:0000951	Abnormality of the skin	6197	RPS6KA3	OMIM:303600
HP:0000951	Abnormality of the skin	189	AGXT	OMIM:259900
HP:0000951	Abnormality of the skin	2517	FUCA1	ORPHA:349
HP:0000951	Abnormality of the skin	4598	MVK	ORPHA:343
HP:0000951	Abnormality of the skin	11277	TREX1	OMIM:225750
HP:0000951	Abnormality of the skin	11277	TREX1	ORPHA:51
HP:0000951	Abnormality of the skin	10801	SEPTIN9	ORPHA:2901
HP:0000951	Abnormality of the skin	10535	RNASEH2A	ORPHA:51
HP:0000951	Abnormality of the skin	84153	RNASEH2C	ORPHA:51
HP:0000951	Abnormality of the skin	25939	SAMHD1	ORPHA:51
HP:0000951	Abnormality of the skin	79621	RNASEH2B	ORPHA:51
HP:0000951	Abnormality of the skin	103	ADAR	ORPHA:51
HP:0000951	Abnormality of the skin	100147744	RNU7-1	ORPHA:51
HP:0000951	Abnormality of the skin	134353	LSM11	ORPHA:51
HP:0000951	Abnormality of the skin	64135	IFIH1	ORPHA:51
HP:0000951	Abnormality of the skin	4088	SMAD3	ORPHA:284984
HP:0000951	Abnormality of the skin	4088	SMAD3	OMIM:613795
HP:0000951	Abnormality of the skin	8450	CUL4B	OMIM:300354
HP:0000951	Abnormality of the skin	23013	SPEN	OMIM:619312
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:154700
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:608328
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:604308
HP:0000951	Abnormality of the skin	1315	COPB1	OMIM:619255
HP:0000951	Abnormality of the skin	4087	SMAD2	OMIM:619656
HP:0000951	Abnormality of the skin	7048	TGFBR2	OMIM:610168
HP:0000951	Abnormality of the skin	7048	TGFBR2	ORPHA:60030
HP:0000951	Abnormality of the skin	84133	ZNRF3	ORPHA:1501
HP:0000951	Abnormality of the skin	1499	CTNNB1	ORPHA:1501
HP:0000951	Abnormality of the skin	1029	CDKN2A	ORPHA:1501
HP:0000951	Abnormality of the skin	4015	LOX	OMIM:617168
HP:0000951	Abnormality of the skin	1742	DLG4	OMIM:618793
HP:0000951	Abnormality of the skin	7046	TGFBR1	ORPHA:60030
HP:0000951	Abnormality of the skin	10526	IPO8	ORPHA:60030
HP:0000951	Abnormality of the skin	5167	ENPP1	ORPHA:758
HP:0000951	Abnormality of the skin	368	ABCC6	ORPHA:758
HP:0000951	Abnormality of the skin	7042	TGFB2	OMIM:614816
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:601321
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:162200
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:162210
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:193520
HP:0000951	Abnormality of the skin	6711	SPTBN1	OMIM:619475
HP:0000951	Abnormality of the skin	161742	SPRED1	OMIM:611431
HP:0000951	Abnormality of the skin	161742	SPRED1	ORPHA:137605
HP:0000951	Abnormality of the skin	8314	BAP1	ORPHA:2495
HP:0000951	Abnormality of the skin	4771	NF2	ORPHA:2495
HP:0000951	Abnormality of the skin	6598	SMARCB1	ORPHA:2495
HP:0000951	Abnormality of the skin	5155	PDGFB	ORPHA:2495
HP:0000951	Abnormality of the skin	84231	TRAF7	ORPHA:2495
HP:0000951	Abnormality of the skin	51684	SUFU	ORPHA:2495
HP:0000951	Abnormality of the skin	6605	SMARCE1	ORPHA:2495
HP:0000951	Abnormality of the skin	4035	LRP1	ORPHA:79100
HP:0000951	Abnormality of the skin	1798	DPAGT1	ORPHA:86309
HP:0000951	Abnormality of the skin	411	ARSB	OMIM:253200
HP:0000951	Abnormality of the skin	65082	VPS33A	OMIM:617303
HP:0000951	Abnormality of the skin	65082	VPS33A	ORPHA:505248
HP:0000951	Abnormality of the skin	2720	GLB1	ORPHA:79255
HP:0000951	Abnormality of the skin	81794	ADAMTS10	ORPHA:3449
HP:0000951	Abnormality of the skin	81794	ADAMTS10	OMIM:277600
HP:0000951	Abnormality of the skin	6261	RYR1	ORPHA:324581
HP:0000951	Abnormality of the skin	51574	LARP7	ORPHA:319671
HP:0000951	Abnormality of the skin	4853	NOTCH2	ORPHA:955
HP:0000951	Abnormality of the skin	4054	LTBP3	OMIM:617809
HP:0000951	Abnormality of the skin	1291	COL6A1	ORPHA:610
HP:0000951	Abnormality of the skin	1292	COL6A2	ORPHA:610
HP:0000951	Abnormality of the skin	1293	COL6A3	ORPHA:610
HP:0000951	Abnormality of the skin	55033	FKBP14	OMIM:614557
HP:0000951	Abnormality of the skin	55033	FKBP14	ORPHA:300179
HP:0000951	Abnormality of the skin	667	DST	OMIM:615425
HP:0000951	Abnormality of the skin	128178	EDARADD	OMIM:224900
HP:0000951	Abnormality of the skin	10913	EDAR	OMIM:224900
HP:0000951	Abnormality of the skin	1896	EDA	OMIM:305100
HP:0000951	Abnormality of the skin	56992	KIF15	ORPHA:261323
HP:0000951	Abnormality of the skin	255738	PCSK9	OMIM:603776
HP:0000951	Abnormality of the skin	338	APOB	OMIM:144010
HP:0000951	Abnormality of the skin	336	APOA2	OMIM:143890
HP:0000951	Abnormality of the skin	2053	EPHX2	OMIM:143890
HP:0000951	Abnormality of the skin	10842	PPP1R17	OMIM:143890
HP:0000951	Abnormality of the skin	2690	GHR	OMIM:143890
HP:0000951	Abnormality of the skin	3949	LDLR	OMIM:143890
HP:0000951	Abnormality of the skin	2538	G6PC1	OMIM:232200
HP:0000951	Abnormality of the skin	1593	CYP27A1	OMIM:213700
HP:0000951	Abnormality of the skin	7274	TTPA	OMIM:277460
HP:0000951	Abnormality of the skin	2542	SLC37A4	OMIM:232220
HP:0000951	Abnormality of the skin	2542	SLC37A4	OMIM:232240
HP:0000951	Abnormality of the skin	2542	SLC37A4	ORPHA:79259
HP:0000951	Abnormality of the skin	64241	ABCG8	OMIM:210250
HP:0000951	Abnormality of the skin	335	APOA1	ORPHA:425
HP:0000951	Abnormality of the skin	19	ABCA1	ORPHA:425
HP:0000951	Abnormality of the skin	9853	RUSC2	OMIM:617773
HP:0000951	Abnormality of the skin	5063	PAK3	OMIM:300558
HP:0000951	Abnormality of the skin	55628	ZNF407	OMIM:619557
HP:0000951	Abnormality of the skin	11133	KPTN	OMIM:615637
HP:0000951	Abnormality of the skin	116931	MED12L	OMIM:618872
HP:0000951	Abnormality of the skin	7025	NR2F1	OMIM:615722
HP:0000951	Abnormality of the skin	1822	ATN1	OMIM:618494
HP:0000951	Abnormality of the skin	3188	HNRNPH2	OMIM:300986
HP:0000951	Abnormality of the skin	94	ACVRL1	OMIM:600376
HP:0000951	Abnormality of the skin	7994	KAT6A	OMIM:616268
HP:0000951	Abnormality of the skin	4935	GPR143	ORPHA:54
HP:0000951	Abnormality of the skin	1001	CDH3	ORPHA:1573
HP:0000951	Abnormality of the skin	5500	PPP1CB	OMIM:617506
HP:0000951	Abnormality of the skin	4255	MGMT	ORPHA:618
HP:0000951	Abnormality of the skin	54386	TERF2IP	ORPHA:618
HP:0000951	Abnormality of the skin	25913	POT1	ORPHA:618
HP:0000951	Abnormality of the skin	114803	MYSM1	ORPHA:508542
HP:0000951	Abnormality of the skin	23592	LEMD3	ORPHA:1879
HP:0000951	Abnormality of the skin	23592	LEMD3	ORPHA:94063
HP:0000951	Abnormality of the skin	23592	LEMD3	ORPHA:1306
HP:0000951	Abnormality of the skin	5745	PTH1R	ORPHA:296
HP:0000951	Abnormality of the skin	3418	IDH2	ORPHA:296
HP:0000951	Abnormality of the skin	3418	IDH2	ORPHA:163634
HP:0000951	Abnormality of the skin	8091	HMGA2	ORPHA:94063
HP:0000951	Abnormality of the skin	8091	HMGA2	ORPHA:99971
HP:0000951	Abnormality of the skin	567	B2M	OMIM:241600
HP:0000951	Abnormality of the skin	427	ASAH1	OMIM:228000
HP:0000951	Abnormality of the skin	83706	FERMT3	OMIM:612840
HP:0000951	Abnormality of the skin	4952	OCRL	OMIM:309000
HP:0000951	Abnormality of the skin	4982	TNFRSF11B	ORPHA:2801
HP:0000951	Abnormality of the skin	8792	TNFRSF11A	ORPHA:2801
HP:0000951	Abnormality of the skin	2521	FUS	ORPHA:99967
HP:0000951	Abnormality of the skin	1649	DDIT3	ORPHA:99967
HP:0000951	Abnormality of the skin	90	ACVR1	ORPHA:337
HP:0000951	Abnormality of the skin	4854	NOTCH3	ORPHA:2591
HP:0000951	Abnormality of the skin	3593	IL12B	ORPHA:3287
HP:0000951	Abnormality of the skin	6945	MLX	ORPHA:3287
HP:0000951	Abnormality of the skin	59335	PRDM12	OMIM:616488
HP:0000951	Abnormality of the skin	4780	NFE2L2	OMIM:617744
HP:0000951	Abnormality of the skin	2303	FOXC2	ORPHA:33001
HP:0000951	Abnormality of the skin	4153	MBL2	OMIM:614372
HP:0000951	Abnormality of the skin	8883	NAE1	OMIM:620210
HP:0000951	Abnormality of the skin	5308	PITX2	ORPHA:782
HP:0000951	Abnormality of the skin	2296	FOXC1	ORPHA:782
HP:0000951	Abnormality of the skin	6535	SLC6A8	ORPHA:52503
HP:0000951	Abnormality of the skin	26281	FGF20	OMIM:615721
HP:0000951	Abnormality of the skin	79087	ALG12	ORPHA:79324
HP:0000951	Abnormality of the skin	2879	GPX4	OMIM:250220
HP:0000951	Abnormality of the skin	54463	RETREG1	OMIM:201300
HP:0000951	Abnormality of the skin	65125	WNK1	OMIM:201300
HP:0000951	Abnormality of the skin	547	KIF1A	OMIM:201300
HP:0000951	Abnormality of the skin	1053	CEBPE	OMIM:260570
HP:0000951	Abnormality of the skin	3764	KCNJ8	ORPHA:1517
HP:0000951	Abnormality of the skin	10559	SLC35A1	ORPHA:238459
HP:0000951	Abnormality of the skin	10559	SLC35A1	OMIM:603585
HP:0000951	Abnormality of the skin	2048	EPHB2	OMIM:618462
HP:0000951	Abnormality of the skin	9213	XPR1	ORPHA:1980
HP:0000951	Abnormality of the skin	57462	MYORG	ORPHA:1980
HP:0000951	Abnormality of the skin	6575	SLC20A2	ORPHA:1980
HP:0000951	Abnormality of the skin	58494	JAM2	ORPHA:1980
HP:0000951	Abnormality of the skin	83932	SPRTN	OMIM:616200
HP:0000951	Abnormality of the skin	472	ATM	ORPHA:100
HP:0000951	Abnormality of the skin	79991	STN1	OMIM:617341
HP:0000951	Abnormality of the skin	6117	RPA1	OMIM:619767
HP:0000951	Abnormality of the skin	4193	MDM2	OMIM:618681
HP:0000951	Abnormality of the skin	79184	BRCC3	ORPHA:280679
HP:0000951	Abnormality of the skin	4507	MTAP	OMIM:112250
HP:0000951	Abnormality of the skin	8884	SLC5A6	OMIM:619903
HP:0000951	Abnormality of the skin	5696	PSMB8	OMIM:256040
HP:0000951	Abnormality of the skin	27030	MLH3	ORPHA:144
HP:0000951	Abnormality of the skin	22909	FAN1	ORPHA:144
HP:0000951	Abnormality of the skin	5378	PMS1	ORPHA:144
HP:0000951	Abnormality of the skin	2304	FOXE1	OMIM:616534
HP:0000951	Abnormality of the skin	3621	ING1	OMIM:275355
HP:0000951	Abnormality of the skin	8795	TNFRSF10B	OMIM:275355
HP:0000951	Abnormality of the skin	256297	PTF1A	OMIM:609069
HP:0000951	Abnormality of the skin	6514	SLC2A2	OMIM:227810
HP:0000951	Abnormality of the skin	3480	IGF1R	OMIM:270450
HP:0000951	Abnormality of the skin	998	CDC42	ORPHA:487796
HP:0000951	Abnormality of the skin	998	CDC42	OMIM:616737
HP:0000951	Abnormality of the skin	3008	H1-4	OMIM:617537
HP:0000951	Abnormality of the skin	1854	DUT	OMIM:620044
HP:0000951	Abnormality of the skin	57217	TTC7A	OMIM:243150
HP:0000951	Abnormality of the skin	57217	TTC7A	ORPHA:436252
HP:0000951	Abnormality of the skin	8913	CACNA1G	ORPHA:458803
HP:0000951	Abnormality of the skin	3107	HLA-C	OMIM:177900
HP:0000951	Abnormality of the skin	2625	GATA3	ORPHA:2237
HP:0000951	Abnormality of the skin	130340	AP1S3	OMIM:616106
HP:0000951	Abnormality of the skin	64919	BCL11B	OMIM:617237
HP:0000951	Abnormality of the skin	5297	PI4KA	ORPHA:436252
HP:0000951	Abnormality of the skin	2313	FLI1	OMIM:617443
HP:0000951	Abnormality of the skin	359948	IRF2BP2	OMIM:617765
HP:0000951	Abnormality of the skin	55315	SLC29A3	ORPHA:168569
HP:0000951	Abnormality of the skin	6307	MSMO1	OMIM:616834
HP:0000951	Abnormality of the skin	64840	PORCN	OMIM:305600
HP:0000951	Abnormality of the skin	64840	PORCN	ORPHA:2092
HP:0000951	Abnormality of the skin	10269	ZMPSTE24	OMIM:608612
HP:0000951	Abnormality of the skin	10269	ZMPSTE24	ORPHA:740
HP:0000951	Abnormality of the skin	10269	ZMPSTE24	ORPHA:90154
HP:0000951	Abnormality of the skin	10269	ZMPSTE24	ORPHA:1662
HP:0000951	Abnormality of the skin	54800	KLHL24	OMIM:617294
HP:0000951	Abnormality of the skin	9401	RECQL4	ORPHA:221016
HP:0000951	Abnormality of the skin	9401	RECQL4	OMIM:268400
HP:0000951	Abnormality of the skin	9401	RECQL4	OMIM:218600
HP:0000951	Abnormality of the skin	1718	DHCR24	ORPHA:35107
HP:0000951	Abnormality of the skin	5159	PDGFRB	OMIM:601812
HP:0000951	Abnormality of the skin	4256	MGP	ORPHA:85202
HP:0000951	Abnormality of the skin	54345	SOX18	ORPHA:69735
HP:0000951	Abnormality of the skin	8626	TP63	OMIM:103285
HP:0000951	Abnormality of the skin	10651	MTX2	ORPHA:90153
HP:0000951	Abnormality of the skin	65057	ACD	ORPHA:3322
HP:0000951	Abnormality of the skin	5424	POLD1	OMIM:615381
HP:0000951	Abnormality of the skin	64682	ANAPC1	ORPHA:221008
HP:0000951	Abnormality of the skin	3098	HK1	OMIM:618547
HP:0000951	Abnormality of the skin	80036	TRPM3	OMIM:620224
HP:0000951	Abnormality of the skin	286	ANK1	ORPHA:251066
HP:0000951	Abnormality of the skin	145258	GSC	OMIM:602471
HP:0000951	Abnormality of the skin	1482	NKX2-5	ORPHA:3303
HP:0000951	Abnormality of the skin	1482	NKX2-5	OMIM:187500
HP:0000951	Abnormality of the skin	137814	NKX2-6	ORPHA:3303
HP:0000951	Abnormality of the skin	23414	ZFPM2	ORPHA:3303
HP:0000951	Abnormality of the skin	23414	ZFPM2	OMIM:187500
HP:0000951	Abnormality of the skin	2626	GATA4	ORPHA:3303
HP:0000951	Abnormality of the skin	2626	GATA4	OMIM:187500
HP:0000951	Abnormality of the skin	3791	KDR	ORPHA:3303
HP:0000951	Abnormality of the skin	2627	GATA6	ORPHA:3303
HP:0000951	Abnormality of the skin	2627	GATA6	OMIM:187500
HP:0000951	Abnormality of the skin	2657	GDF1	ORPHA:3303
HP:0000951	Abnormality of the skin	140628	GATA5	ORPHA:3303
HP:0000951	Abnormality of the skin	10370	CITED2	ORPHA:3303
HP:0000951	Abnormality of the skin	3190	HNRNPK	ORPHA:453504
HP:0000951	Abnormality of the skin	3190	HNRNPK	ORPHA:352665
HP:0000951	Abnormality of the skin	51715	RAB23	OMIM:201000
HP:0000951	Abnormality of the skin	27031	NPHP3	OMIM:208540
HP:0000951	Abnormality of the skin	5075	PAX1	OMIM:615560
HP:0000951	Abnormality of the skin	5075	PAX1	ORPHA:2792
HP:0000951	Abnormality of the skin	23384	SPECC1L	ORPHA:1519
HP:0000951	Abnormality of the skin	23384	SPECC1L	OMIM:145420
HP:0000951	Abnormality of the skin	3759	KCNJ2	OMIM:170390
HP:0000951	Abnormality of the skin	9451	EIF2AK3	OMIM:226980
HP:0000951	Abnormality of the skin	4281	MID1	ORPHA:2745
HP:0000951	Abnormality of the skin	58499	ZNF462	OMIM:618619
HP:0000951	Abnormality of the skin	55784	MCTP2	ORPHA:1596
HP:0000951	Abnormality of the skin	126695	KDF1	OMIM:617337
HP:0000951	Abnormality of the skin	387	RHOA	OMIM:618727
HP:0000951	Abnormality of the skin	2074	ERCC6	OMIM:214150
HP:0000951	Abnormality of the skin	23556	PIGN	ORPHA:280633
HP:0000951	Abnormality of the skin	7737	RNF113A	OMIM:300953
HP:0000951	Abnormality of the skin	8425	LTBP4	OMIM:613177
HP:0000951	Abnormality of the skin	10273	STUB1	ORPHA:412057
HP:0000951	Abnormality of the skin	84823	LMNB2	ORPHA:79087
HP:0000951	Abnormality of the skin	23404	EXOSC2	OMIM:617763
HP:0000951	Abnormality of the skin	1130	LYST	ORPHA:167
HP:0000951	Abnormality of the skin	1130	LYST	OMIM:214500
HP:0000951	Abnormality of the skin	3561	IL2RG	ORPHA:276
HP:0000951	Abnormality of the skin	10804	GJB6	ORPHA:477
HP:0000951	Abnormality of the skin	2706	GJB2	ORPHA:477
HP:0000951	Abnormality of the skin	2706	GJB2	OMIM:148210
HP:0000951	Abnormality of the skin	1536	CYBB	OMIM:306400
HP:0000951	Abnormality of the skin	4615	MYD88	ORPHA:183713
HP:0000951	Abnormality of the skin	4688	NCF2	OMIM:233710
HP:0000951	Abnormality of the skin	1535	CYBA	OMIM:233690
HP:0000951	Abnormality of the skin	7535	ZAP70	ORPHA:911
HP:0000951	Abnormality of the skin	7390	UROS	ORPHA:79277
HP:0000951	Abnormality of the skin	2623	GATA1	ORPHA:79277
HP:0000951	Abnormality of the skin	2050	EPHB4	ORPHA:90186
HP:0000951	Abnormality of the skin	6868	ADAM17	ORPHA:294023
HP:0000951	Abnormality of the skin	1956	EGFR	ORPHA:294023
HP:0000951	Abnormality of the skin	7389	UROD	ORPHA:95159
HP:0000951	Abnormality of the skin	81704	DOCK8	ORPHA:217390
HP:0000951	Abnormality of the skin	9419	CRIPT	OMIM:615789
HP:0000951	Abnormality of the skin	4683	NBN	OMIM:251260
HP:0000951	Abnormality of the skin	1026	CDKN1A	ORPHA:652
HP:0000951	Abnormality of the skin	1030	CDKN2B	ORPHA:652
HP:0000951	Abnormality of the skin	1031	CDKN2C	ORPHA:652
HP:0000951	Abnormality of the skin	23545	ATP6V0A2	ORPHA:357074
HP:0000951	Abnormality of the skin	523	ATP6V1A	ORPHA:357074
HP:0000951	Abnormality of the skin	529	ATP6V1E1	ORPHA:357074
HP:0000951	Abnormality of the skin	54496	PRMT7	OMIM:617157
HP:0000951	Abnormality of the skin	8260	NAA10	OMIM:300855
HP:0000951	Abnormality of the skin	5832	ALDH18A1	ORPHA:90348
HP:0000951	Abnormality of the skin	55165	CEP55	OMIM:236500
HP:0000951	Abnormality of the skin	6913	TBX15	ORPHA:93333
HP:0000951	Abnormality of the skin	55593	OTUD5	OMIM:301056
HP:0000951	Abnormality of the skin	9896	FIG4	OMIM:216340
HP:0000951	Abnormality of the skin	9896	FIG4	ORPHA:3472
HP:0000951	Abnormality of the skin	56945	MRPS22	OMIM:611719
HP:0000951	Abnormality of the skin	79848	CSPP1	ORPHA:397715
HP:0000951	Abnormality of the skin	9786	KIAA0586	ORPHA:397715
HP:0000951	Abnormality of the skin	10682	EBP	OMIM:300960
HP:0000951	Abnormality of the skin	55697	VAC14	ORPHA:3472
HP:0000951	Abnormality of the skin	4716	NDUFB10	OMIM:619003
HP:0000951	Abnormality of the skin	22884	WDR37	OMIM:618652
HP:0000951	Abnormality of the skin	8621	CDK13	OMIM:617360
HP:0000951	Abnormality of the skin	388015	RTL1	ORPHA:254528
HP:0000951	Abnormality of the skin	388015	RTL1	ORPHA:96334
HP:0000951	Abnormality of the skin	8788	DLK1	ORPHA:254528
HP:0000951	Abnormality of the skin	8788	DLK1	ORPHA:96334
HP:0000951	Abnormality of the skin	55384	MEG3	ORPHA:254528
HP:0000951	Abnormality of the skin	55384	MEG3	ORPHA:96334
HP:0000951	Abnormality of the skin	51021	MRPS16	OMIM:610498
HP:0000951	Abnormality of the skin	124997	WDR81	OMIM:617967
HP:0000951	Abnormality of the skin	2683	B4GALT1	ORPHA:79332
HP:0000951	Abnormality of the skin	5189	PEX1	OMIM:214100
HP:0000951	Abnormality of the skin	26053	AUTS2	OMIM:615834
HP:0000951	Abnormality of the skin	26053	AUTS2	ORPHA:352490
HP:0000951	Abnormality of the skin	63895	PIEZO2	OMIM:108145
HP:0000951	Abnormality of the skin	8985	PLOD3	OMIM:612394
HP:0000951	Abnormality of the skin	57479	PRR12	OMIM:619539
HP:0000951	Abnormality of the skin	283209	PGM2L1	OMIM:620191
HP:0000951	Abnormality of the skin	80816	ASXL3	OMIM:615485
HP:0000951	Abnormality of the skin	1806	DPYD	ORPHA:1675
HP:0000951	Abnormality of the skin	200734	SPRED2	OMIM:619745
HP:0000951	Abnormality of the skin	8241	RBM10	OMIM:311900
HP:0000951	Abnormality of the skin	10664	CTCF	ORPHA:363611
HP:0000951	Abnormality of the skin	23446	SLC44A1	OMIM:618868
HP:0000951	Abnormality of the skin	5626	PROP1	ORPHA:226307
HP:0000951	Abnormality of the skin	89884	LHX4	ORPHA:226307
HP:0000951	Abnormality of the skin	8022	LHX3	ORPHA:226307
HP:0000951	Abnormality of the skin	8820	HESX1	ORPHA:226307
HP:0000951	Abnormality of the skin	7167	TPI1	OMIM:615512
HP:0000951	Abnormality of the skin	8573	CASK	OMIM:300908
HP:0000951	Abnormality of the skin	2539	G6PD	OMIM:300908
HP:0000951	Abnormality of the skin	100151683	RNU4ATAC	OMIM:210710
HP:0000951	Abnormality of the skin	2584	GALK1	OMIM:230200
HP:0000951	Abnormality of the skin	23600	AMACR	OMIM:214950
HP:0000951	Abnormality of the skin	8405	SPOP	OMIM:618828
HP:0000951	Abnormality of the skin	6609	SMPD1	OMIM:257200
HP:0000951	Abnormality of the skin	6718	AKR1D1	ORPHA:79303
HP:0000951	Abnormality of the skin	123264	SLC51B	OMIM:619481
HP:0000951	Abnormality of the skin	5631	PRPS1	ORPHA:423479
HP:0000951	Abnormality of the skin	200894	ARL13B	OMIM:612291
HP:0000951	Abnormality of the skin	10525	HYOU1	OMIM:233600
HP:0000951	Abnormality of the skin	50506	DUOX2	ORPHA:226316
HP:0000951	Abnormality of the skin	50506	DUOX2	ORPHA:95716
HP:0000951	Abnormality of the skin	5192	PEX10	OMIM:614871
HP:0000951	Abnormality of the skin	55904	KMT2E	OMIM:618512
HP:0000951	Abnormality of the skin	182	JAG1	OMIM:118450
HP:0000951	Abnormality of the skin	25973	PARS2	OMIM:618437
HP:0000951	Abnormality of the skin	11093	ADAMTS13	OMIM:274150
HP:0000951	Abnormality of the skin	7252	TSHB	ORPHA:90674
HP:0000951	Abnormality of the skin	9095	TBX19	ORPHA:199296
HP:0000951	Abnormality of the skin	10577	NPC2	OMIM:607625
HP:0000951	Abnormality of the skin	6554	SLC10A1	OMIM:619256
HP:0000951	Abnormality of the skin	55898	UNC45A	OMIM:619377
HP:0000951	Abnormality of the skin	79989	IFT56	OMIM:619534
HP:0000951	Abnormality of the skin	537	ATP6AP1	OMIM:300972
HP:0000951	Abnormality of the skin	130589	GALM	OMIM:618881
HP:0000951	Abnormality of the skin	8565	YARS1	OMIM:619418
HP:0000951	Abnormality of the skin	405753	DUOXA2	ORPHA:95716
HP:0000951	Abnormality of the skin	6528	SLC5A5	ORPHA:95716
HP:0000951	Abnormality of the skin	7038	TG	ORPHA:95716
HP:0000951	Abnormality of the skin	7173	TPO	ORPHA:95716
HP:0000951	Abnormality of the skin	389434	IYD	ORPHA:95716
HP:0000951	Abnormality of the skin	4358	MPV17	OMIM:256810
HP:0000951	Abnormality of the skin	84317	CCDC115	OMIM:616828
HP:0000951	Abnormality of the skin	4864	NPC1	OMIM:257220
HP:0000951	Abnormality of the skin	7201	TRHR	ORPHA:99832
HP:0000951	Abnormality of the skin	5313	PKLR	ORPHA:766
HP:0000951	Abnormality of the skin	2035	EPB41	ORPHA:288
HP:0000951	Abnormality of the skin	2995	GYPC	ORPHA:288
HP:0000951	Abnormality of the skin	6708	SPTA1	ORPHA:288
HP:0000951	Abnormality of the skin	6567	SLC16A2	ORPHA:59
HP:0000951	Abnormality of the skin	2688	GH1	OMIM:262400
HP:0000951	Abnormality of the skin	146059	CDAN1	OMIM:224120
HP:0000951	Abnormality of the skin	54658	UGT1A1	ORPHA:79234
HP:0000951	Abnormality of the skin	54658	UGT1A1	ORPHA:79235
HP:0000951	Abnormality of the skin	284654	RSPO1	ORPHA:85112
HP:0000951	Abnormality of the skin	2271	FH	OMIM:150800
HP:0000951	Abnormality of the skin	201163	FLCN	OMIM:135150
HP:0000951	Abnormality of the skin	170302	ARX	ORPHA:94083
HP:0000951	Abnormality of the skin	55275	VPS53	OMIM:615851
HP:0000951	Abnormality of the skin	10093	ARPC4	OMIM:620141
HP:0000951	Abnormality of the skin	833	CARS1	ORPHA:33364
HP:0000951	Abnormality of the skin	136647	MPLKIP	ORPHA:33364
HP:0000951	Abnormality of the skin	2961	GTF2E2	ORPHA:33364
HP:0000951	Abnormality of the skin	79796	ALG9	ORPHA:79328
HP:0000951	Abnormality of the skin	197131	UBR1	OMIM:243800
HP:0000951	Abnormality of the skin	54872	PIGG	ORPHA:280
HP:0000951	Abnormality of the skin	7469	NELFA	ORPHA:280
HP:0000951	Abnormality of the skin	60529	ALX4	ORPHA:60015
HP:0000951	Abnormality of the skin	60529	ALX4	OMIM:609597
HP:0000951	Abnormality of the skin	91949	COG7	OMIM:608779
HP:0000951	Abnormality of the skin	91949	COG7	ORPHA:79333
HP:0000951	Abnormality of the skin	6389	SDHA	ORPHA:44890
HP:0000951	Abnormality of the skin	5156	PDGFRA	ORPHA:44890
HP:0000951	Abnormality of the skin	846	CASR	ORPHA:428
HP:0000951	Abnormality of the skin	55719	SLF2	OMIM:620184
HP:0000951	Abnormality of the skin	203068	TUBB	ORPHA:2505
HP:0000951	Abnormality of the skin	10982	MAPRE2	ORPHA:2505
HP:0000951	Abnormality of the skin	1508	CTSB	OMIM:148370
HP:0000951	Abnormality of the skin	9373	PLAA	OMIM:617527
HP:0000951	Abnormality of the skin	81857	MED25	ORPHA:464738
HP:0000951	Abnormality of the skin	81857	MED25	OMIM:616449
HP:0000951	Abnormality of the skin	3930	LBR	OMIM:618019
HP:0000951	Abnormality of the skin	118924	FRA10AC1	OMIM:620113
HP:0000951	Abnormality of the skin	5354	PLP1	ORPHA:280229
HP:0000951	Abnormality of the skin	8558	CDK10	OMIM:617694
HP:0000951	Abnormality of the skin	6696	SPP1	ORPHA:93552
HP:0000951	Abnormality of the skin	3654	IRAK1	ORPHA:93552
HP:0000951	Abnormality of the skin	2811	GP1BA	ORPHA:274
HP:0000951	Abnormality of the skin	2811	GP1BA	ORPHA:853
HP:0000951	Abnormality of the skin	2815	GP9	ORPHA:274
HP:0000951	Abnormality of the skin	5568	PRKACG	OMIM:616176
HP:0000951	Abnormality of the skin	84342	COG8	ORPHA:95428
HP:0000951	Abnormality of the skin	3674	ITGA2B	ORPHA:849
HP:0000951	Abnormality of the skin	3674	ITGA2B	ORPHA:853
HP:0000951	Abnormality of the skin	3690	ITGB3	ORPHA:849
HP:0000951	Abnormality of the skin	3690	ITGB3	ORPHA:853
HP:0000951	Abnormality of the skin	2159	F10	ORPHA:328
HP:0000951	Abnormality of the skin	3673	ITGA2	ORPHA:853
HP:0000951	Abnormality of the skin	135228	CD109	ORPHA:853
HP:0000951	Abnormality of the skin	2153	F5	ORPHA:326
HP:0000951	Abnormality of the skin	6418	SET	OMIM:618106
HP:0000951	Abnormality of the skin	5932	RBBP8	OMIM:606744
HP:0000951	Abnormality of the skin	6768	ST14	OMIM:602400
HP:0000951	Abnormality of the skin	404672	GTF2H5	OMIM:616395
HP:0000951	Abnormality of the skin	412	STS	OMIM:308100
HP:0000951	Abnormality of the skin	64127	NOD2	OMIM:186580
HP:0000951	Abnormality of the skin	3891	KRT85	OMIM:602032
HP:0000951	Abnormality of the skin	4158	MC2R	OMIM:202200
HP:0000951	Abnormality of the skin	4158	MC2R	ORPHA:361
HP:0000951	Abnormality of the skin	30061	SLC40A1	ORPHA:139491
HP:0000951	Abnormality of the skin	1583	CYP11A1	ORPHA:168558
HP:0000951	Abnormality of the skin	1583	CYP11A1	ORPHA:289548
HP:0000951	Abnormality of the skin	5080	PAX6	ORPHA:2253
HP:0000951	Abnormality of the skin	29926	GMPPA	ORPHA:869
HP:0000951	Abnormality of the skin	60684	TRAPPC11	ORPHA:869
HP:0000951	Abnormality of the skin	8086	AAAS	ORPHA:869
HP:0000951	Abnormality of the skin	56246	MRAP	ORPHA:361
HP:0000951	Abnormality of the skin	6770	STAR	ORPHA:361
HP:0000951	Abnormality of the skin	23530	NNT	ORPHA:361
HP:0000951	Abnormality of the skin	10587	TXNRD2	ORPHA:361
HP:0000951	Abnormality of the skin	57817	HAMP	ORPHA:79230
HP:0000951	Abnormality of the skin	148738	HJV	ORPHA:79230
HP:0000951	Abnormality of the skin	3756	KCNH1	ORPHA:3473
HP:0000951	Abnormality of the skin	3782	KCNN3	ORPHA:3473
HP:0000951	Abnormality of the skin	3662	IRF4	ORPHA:3452
HP:0000951	Abnormality of the skin	79083	MLPH	ORPHA:79478
HP:0000951	Abnormality of the skin	362	AQP5	OMIM:600231
HP:0000951	Abnormality of the skin	362	AQP5	ORPHA:2337
HP:0000951	Abnormality of the skin	57152	SLURP1	ORPHA:86923
HP:0000951	Abnormality of the skin	145264	SERPINA12	ORPHA:86923
HP:0000951	Abnormality of the skin	9342	SNAP29	ORPHA:66631
HP:0000951	Abnormality of the skin	4841	NONO	ORPHA:466791
HP:0000951	Abnormality of the skin	27238	GPKOW	ORPHA:2570
HP:0000951	Abnormality of the skin	90416	CCDC32	OMIM:619123
HP:0000951	Abnormality of the skin	4038	LRP4	ORPHA:3258
HP:0000951	Abnormality of the skin	5925	RB1	ORPHA:1587
HP:0000951	Abnormality of the skin	3209	HOXA13	ORPHA:2438
HP:0000951	Abnormality of the skin	1723	DHODH	ORPHA:246
HP:0000951	Abnormality of the skin	51099	ABHD5	ORPHA:98907
HP:0000951	Abnormality of the skin	51099	ABHD5	OMIM:275630
HP:0000951	Abnormality of the skin	55806	HR	OMIM:209500
HP:0000951	Abnormality of the skin	8239	USP9X	ORPHA:480880
HP:0000951	Abnormality of the skin	22930	RAB3GAP1	ORPHA:1387
HP:0000951	Abnormality of the skin	25782	RAB3GAP2	ORPHA:1387
HP:0000951	Abnormality of the skin	1062	CENPE	ORPHA:808
HP:0000951	Abnormality of the skin	79902	NUP85	ORPHA:808
HP:0000951	Abnormality of the skin	84126	ATRIP	ORPHA:808
HP:0000951	Abnormality of the skin	55835	CENPJ	ORPHA:808
HP:0000951	Abnormality of the skin	10293	TRAIP	ORPHA:808
HP:0000951	Abnormality of the skin	22995	CEP152	ORPHA:808
HP:0000951	Abnormality of the skin	10733	PLK4	ORPHA:808
HP:0000951	Abnormality of the skin	147409	DSG4	ORPHA:573
HP:0000951	Abnormality of the skin	147409	DSG4	OMIM:607903
HP:0000951	Abnormality of the skin	3892	KRT86	ORPHA:573
HP:0000951	Abnormality of the skin	3887	KRT81	ORPHA:573
HP:0000951	Abnormality of the skin	6897	TARS1	OMIM:618546
HP:0000951	Abnormality of the skin	9325	TRIP4	OMIM:617066
HP:0000951	Abnormality of the skin	9325	TRIP4	ORPHA:486815
HP:0000951	Abnormality of the skin	5950	RBP4	OMIM:615147
HP:0000951	Abnormality of the skin	6611	SMS	ORPHA:3063
HP:0000951	Abnormality of the skin	9652	SKIC3	OMIM:222470
HP:0000951	Abnormality of the skin	9652	SKIC3	ORPHA:84064
HP:0000951	Abnormality of the skin	8882	ZPR1	OMIM:619321
HP:0000951	Abnormality of the skin	283652	SLC24A5	OMIM:113750
HP:0000951	Abnormality of the skin	6499	SKIC2	ORPHA:84064
HP:0000951	Abnormality of the skin	4882	NPR2	OMIM:602875
HP:0000951	Abnormality of the skin	22808	MRAS	OMIM:618499
HP:0000951	Abnormality of the skin	8216	LZTR1	OMIM:616564
HP:0000951	Abnormality of the skin	8216	LZTR1	OMIM:605275
HP:0000951	Abnormality of the skin	84627	ZNF469	OMIM:229200
HP:0000951	Abnormality of the skin	6016	RIT1	OMIM:615355
HP:0000951	Abnormality of the skin	1717	DHCR7	OMIM:270400
HP:0000951	Abnormality of the skin	378884	NHLRC1	ORPHA:501
HP:0000951	Abnormality of the skin	7957	EPM2A	ORPHA:501
HP:0000951	Abnormality of the skin	84570	COL25A1	ORPHA:91411
HP:0000951	Abnormality of the skin	79776	ZFHX4	ORPHA:91411
HP:0000951	Abnormality of the skin	26276	VPS33B	OMIM:620009
HP:0000951	Abnormality of the skin	3141	HLCS	ORPHA:79242
HP:0000951	Abnormality of the skin	5373	PMM2	ORPHA:79318
HP:0000951	Abnormality of the skin	5373	PMM2	OMIM:212065
HP:0000951	Abnormality of the skin	7040	TGFB1	ORPHA:1328
HP:0000951	Abnormality of the skin	79718	TBL1XR1	ORPHA:487825
HP:0000951	Abnormality of the skin	2956	MSH6	OMIM:619097
HP:0000951	Abnormality of the skin	5980	REV3L	ORPHA:570
HP:0000951	Abnormality of the skin	23129	PLXND1	ORPHA:570
HP:0000951	Abnormality of the skin	11253	MAN1B1	ORPHA:397941
HP:0000951	Abnormality of the skin	8242	KDM5C	ORPHA:85279
HP:0000951	Abnormality of the skin	5395	PMS2	OMIM:619101
HP:0000951	Abnormality of the skin	727	C5	OMIM:609536
HP:0000951	Abnormality of the skin	7291	TWIST1	ORPHA:794
HP:0000951	Abnormality of the skin	5792	PTPRF	OMIM:616001
HP:0000951	Abnormality of the skin	10908	PNPLA6	ORPHA:2377
HP:0000951	Abnormality of the skin	9894	TELO2	ORPHA:488642
HP:0000951	Abnormality of the skin	2131	EXT1	ORPHA:502
HP:0000951	Abnormality of the skin	7227	TRPS1	ORPHA:502
HP:0000951	Abnormality of the skin	283989	TSEN54	ORPHA:2524
HP:0000951	Abnormality of the skin	116461	TSEN15	ORPHA:2524
HP:0000951	Abnormality of the skin	79042	TSEN34	ORPHA:2524
HP:0000951	Abnormality of the skin	51091	SEPSECS	ORPHA:2524
HP:0000951	Abnormality of the skin	129563	DIS3L2	ORPHA:2849
HP:0000951	Abnormality of the skin	7140	TNNT3	ORPHA:1147
HP:0000951	Abnormality of the skin	259232	NALCN	ORPHA:1147
HP:0000951	Abnormality of the skin	7136	TNNI2	ORPHA:1147
HP:0000951	Abnormality of the skin	23511	NUP188	OMIM:618804
HP:0000951	Abnormality of the skin	658	BMPR1B	ORPHA:2639
HP:0000951	Abnormality of the skin	23522	KAT6B	ORPHA:3047
HP:0000951	Abnormality of the skin	9496	TBX4	ORPHA:261279
HP:0000951	Abnormality of the skin	1801	DPH1	ORPHA:459061
HP:0000951	Abnormality of the skin	2254	FGF9	ORPHA:3237
HP:0000951	Abnormality of the skin	5429	POLH	OMIM:278750
HP:0000951	Abnormality of the skin	5429	POLH	ORPHA:90342
HP:0000951	Abnormality of the skin	4948	OCA2	OMIM:203200
HP:0000951	Abnormality of the skin	3257	HPS1	OMIM:203300
HP:0000951	Abnormality of the skin	8074	FGF23	OMIM:617993
HP:0000951	Abnormality of the skin	5702	PSMC3	OMIM:619354
HP:0000951	Abnormality of the skin	2483	FRG1	OMIM:158900
HP:0000951	Abnormality of the skin	5111	PCNA	ORPHA:438134
HP:0000951	Abnormality of the skin	4536	MT-ND2	ORPHA:104
HP:0000951	Abnormality of the skin	4720	NDUFS2	ORPHA:104
HP:0000951	Abnormality of the skin	4519	MT-CYB	ORPHA:104
HP:0000951	Abnormality of the skin	4508	MT-ATP6	ORPHA:104
HP:0000951	Abnormality of the skin	4539	MT-ND4L	ORPHA:104
HP:0000951	Abnormality of the skin	197	AHSG	ORPHA:2850
HP:0000951	Abnormality of the skin	3694	ITGB6	ORPHA:2850
HP:0000951	Abnormality of the skin	1120	CHKB	OMIM:602541
HP:0000951	Abnormality of the skin	128486	FITM2	OMIM:618635
HP:0000951	Abnormality of the skin	1287	COL4A5	OMIM:301050
HP:0000951	Abnormality of the skin	3560	IL2RB	OMIM:618495
HP:0000951	Abnormality of the skin	285362	SUMF1	OMIM:272200
HP:0000951	Abnormality of the skin	285362	SUMF1	ORPHA:585
HP:0000951	Abnormality of the skin	415	ARSL	OMIM:302950
HP:0000951	Abnormality of the skin	2273	FHL1	ORPHA:98863
HP:0000951	Abnormality of the skin	2010	EMD	ORPHA:98863
HP:0000951	Abnormality of the skin	10371	SEMA3A	ORPHA:478
HP:0000951	Abnormality of the skin	81848	SPRY4	ORPHA:478
HP:0000951	Abnormality of the skin	23767	FLRT3	ORPHA:478
HP:0000951	Abnormality of the skin	79625	NDNF	ORPHA:478
HP:0000951	Abnormality of the skin	2253	FGF8	ORPHA:478
HP:0000951	Abnormality of the skin	389549	FEZF1	ORPHA:478
HP:0000951	Abnormality of the skin	1630	DCC	ORPHA:478
HP:0000951	Abnormality of the skin	3730	ANOS1	ORPHA:478
HP:0000951	Abnormality of the skin	54756	IL17RD	ORPHA:478
HP:0000951	Abnormality of the skin	285025	CCDC141	ORPHA:478
HP:0000951	Abnormality of the skin	60675	PROK2	ORPHA:478
HP:0000951	Abnormality of the skin	1848	DUSP6	ORPHA:478
HP:0000951	Abnormality of the skin	6870	TACR3	ORPHA:478
HP:0000951	Abnormality of the skin	9394	HS6ST1	ORPHA:478
HP:0000951	Abnormality of the skin	8822	FGF17	ORPHA:478
HP:0000951	Abnormality of the skin	79188	TMEM43	ORPHA:98853
HP:0000951	Abnormality of the skin	23345	SYNE1	ORPHA:98853
HP:0000951	Abnormality of the skin	23224	SYNE2	ORPHA:98853
HP:0000951	Abnormality of the skin	64170	CARD9	OMIM:212050
HP:0000951	Abnormality of the skin	915	CD3D	ORPHA:169160
HP:0000951	Abnormality of the skin	916	CD3E	ORPHA:169160
HP:0000951	Abnormality of the skin	919	CD247	ORPHA:169160
HP:0000951	Abnormality of the skin	3551	IKBKB	OMIM:615592
HP:0000951	Abnormality of the skin	7037	TFRC	OMIM:616740
HP:0000951	Abnormality of the skin	6097	RORC	OMIM:616622
HP:0000951	Abnormality of the skin	3932	LCK	OMIM:615758
HP:0000951	Abnormality of the skin	23765	IL17RA	OMIM:613953
HP:0000951	Abnormality of the skin	959	CD40LG	OMIM:308230
HP:0000951	Abnormality of the skin	5293	PIK3CD	ORPHA:221139
HP:0000951	Abnormality of the skin	90417	KNSTRN	ORPHA:221139
HP:0000951	Abnormality of the skin	51311	TLR8	OMIM:301078
HP:0000951	Abnormality of the skin	11151	CORO1A	OMIM:615401
HP:0000951	Abnormality of the skin	1794	DOCK2	OMIM:616433
HP:0000951	Abnormality of the skin	917	CD3G	OMIM:615607
HP:0000951	Abnormality of the skin	3559	IL2RA	OMIM:606367
HP:0000951	Abnormality of the skin	3718	JAK3	ORPHA:35078
HP:0000951	Abnormality of the skin	1777	DNASE2	OMIM:619858
HP:0000951	Abnormality of the skin	134218	DNAJC21	OMIM:617052
HP:0000951	Abnormality of the skin	5333	PLCD1	ORPHA:2387
HP:0000951	Abnormality of the skin	5307	PITX1	OMIM:119800
HP:0000951	Abnormality of the skin	9928	KIF14	OMIM:616258
HP:0000951	Abnormality of the skin	22806	IKZF3	OMIM:619437
HP:0000951	Abnormality of the skin	3110	MNX1	OMIM:176450
HP:0000951	Abnormality of the skin	92949	ADAMTSL1	ORPHA:521445
HP:0000951	Abnormality of the skin	54820	NDE1	OMIM:605013
HP:0000951	Abnormality of the skin	6885	MAP3K7	OMIM:617137
HP:0000951	Abnormality of the skin	6885	MAP3K7	ORPHA:1826
HP:0000951	Abnormality of the skin	286053	NSMCE2	OMIM:617253
HP:0000951	Abnormality of the skin	9968	MED12	OMIM:305450
HP:0000951	Abnormality of the skin	2248	FGF3	ORPHA:90024
HP:0000951	Abnormality of the skin	2248	FGF3	OMIM:610706
HP:0000951	Abnormality of the skin	1105	CHD1	OMIM:617682
HP:0000951	Abnormality of the skin	1105	CHD1	ORPHA:529965
HP:0000951	Abnormality of the skin	55906	ZC4H2	OMIM:314580
HP:0000951	Abnormality of the skin	81607	NECTIN4	OMIM:613573
HP:0000951	Abnormality of the skin	6662	SOX9	ORPHA:140
HP:0000951	Abnormality of the skin	55681	SCYL2	ORPHA:1143
HP:0000951	Abnormality of the skin	57222	ERGIC1	ORPHA:1143
HP:0000951	Abnormality of the skin	471	ATIC	OMIM:608688
HP:0000951	Abnormality of the skin	2887	GRB10	ORPHA:96182
HP:0000951	Abnormality of the skin	2235	FECH	OMIM:177000
HP:0000951	Abnormality of the skin	2235	FECH	ORPHA:79278
HP:0000951	Abnormality of the skin	7518	XRCC4	ORPHA:99812
HP:0000951	Abnormality of the skin	6336	SCN10A	ORPHA:90026
HP:0000951	Abnormality of the skin	56984	PSMG2	OMIM:619183
HP:0000951	Abnormality of the skin	2752	GLUL	OMIM:610015
HP:0000951	Abnormality of the skin	1174	AP1S1	OMIM:609313
HP:0000951	Abnormality of the skin	55739	NAXD	OMIM:618321
HP:0000951	Abnormality of the skin	64377	CHST8	OMIM:616265
HP:0000951	Abnormality of the skin	1071	CETP	ORPHA:79506
HP:0000951	Abnormality of the skin	345	APOC3	ORPHA:79506
HP:0000951	Abnormality of the skin	5083	PAX9	OMIM:604625
HP:0000951	Abnormality of the skin	210	ALAD	ORPHA:100924
HP:0000951	Abnormality of the skin	112802	KRT71	OMIM:615896
HP:0000951	Abnormality of the skin	6792	CDKL5	ORPHA:3451
HP:0000951	Abnormality of the skin	221692	PHACTR1	ORPHA:3451
HP:0000951	Abnormality of the skin	6487	ST3GAL3	ORPHA:3451
HP:0000951	Abnormality of the skin	10695	CNPY3	ORPHA:3451
HP:0000951	Abnormality of the skin	23236	PLCB1	ORPHA:3451
HP:0000951	Abnormality of the skin	150094	SIK1	ORPHA:3451
HP:0000951	Abnormality of the skin	6709	SPTAN1	ORPHA:3451
HP:0000951	Abnormality of the skin	60558	GUF1	ORPHA:3451
HP:0000951	Abnormality of the skin	2904	GRIN2B	ORPHA:3451
HP:0000951	Abnormality of the skin	4915	NTRK2	ORPHA:3451
HP:0000951	Abnormality of the skin	3145	HMBS	ORPHA:79276
HP:0000951	Abnormality of the skin	57104	PNPLA2	ORPHA:565612
HP:0000951	Abnormality of the skin	11235	PDCD10	ORPHA:221061
HP:0000951	Abnormality of the skin	889	KRIT1	ORPHA:221061
HP:0000951	Abnormality of the skin	4297	KMT2A	OMIM:605130
HP:0000951	Abnormality of the skin	27086	FOXP1	OMIM:613670
HP:0000951	Abnormality of the skin	3423	IDS	ORPHA:217085
HP:0000951	Abnormality of the skin	3423	IDS	ORPHA:217093
HP:0000951	Abnormality of the skin	11198	SUPT16H	OMIM:619480
HP:0000951	Abnormality of the skin	7852	CXCR4	ORPHA:51636
HP:0000951	Abnormality of the skin	7486	WRN	ORPHA:902
HP:0000951	Abnormality of the skin	6772	STAT1	ORPHA:391487
HP:0000951	Abnormality of the skin	10043	TOM1	ORPHA:391487
HP:0000951	Abnormality of the skin	23476	BRD4	ORPHA:443167
HP:0000951	Abnormality of the skin	256646	NUTM1	ORPHA:443167
HP:0000951	Abnormality of the skin	977	CD151	OMIM:609057
HP:0000951	Abnormality of the skin	102	ADAM10	OMIM:615537
HP:0000951	Abnormality of the skin	4437	MSH3	ORPHA:480536
HP:0000951	Abnormality of the skin	3587	IL10RA	OMIM:613148
HP:0000951	Abnormality of the skin	3588	IL10RB	OMIM:612567
HP:0000951	Abnormality of the skin	1825	DSC3	OMIM:613102
HP:0000951	Abnormality of the skin	3557	IL1RN	OMIM:612852
HP:0000951	Abnormality of the skin	79977	GRHL2	OMIM:616029
HP:0000951	Abnormality of the skin	5271	SERPINB8	OMIM:617115
HP:0000951	Abnormality of the skin	286887	KRT6C	OMIM:615735
HP:0000951	Abnormality of the skin	1475	CSTA	OMIM:607936
HP:0000951	Abnormality of the skin	55252	ASXL2	OMIM:617190
HP:0000951	Abnormality of the skin	440275	EIF2AK4	ORPHA:199241
HP:0000951	Abnormality of the skin	10617	STAMBP	OMIM:614261
HP:0000951	Abnormality of the skin	242	ALOX12B	OMIM:242100
HP:0000951	Abnormality of the skin	59344	ALOXE3	OMIM:242100
HP:0000951	Abnormality of the skin	204219	CERS3	OMIM:615023
HP:0000951	Abnormality of the skin	285848	PNPLA1	OMIM:615024
HP:0000951	Abnormality of the skin	121214	SDR9C7	OMIM:617574
HP:0000951	Abnormality of the skin	8710	SERPINB7	OMIM:615598
HP:0000951	Abnormality of the skin	3857	KRT9	ORPHA:2199
HP:0000951	Abnormality of the skin	643418	LIPN	OMIM:613943
HP:0000951	Abnormality of the skin	1828	DSG1	OMIM:615508
HP:0000951	Abnormality of the skin	1828	DSG1	OMIM:148700
HP:0000951	Abnormality of the skin	79719	AAGAB	OMIM:148600
HP:0000951	Abnormality of the skin	79719	AAGAB	ORPHA:79501
HP:0000951	Abnormality of the skin	7373	COL14A1	ORPHA:79501
HP:0000951	Abnormality of the skin	64132	XYLT2	OMIM:264800
HP:0000951	Abnormality of the skin	545	ATR	OMIM:614564
HP:0000951	Abnormality of the skin	340665	CYP26C1	ORPHA:398189
HP:0000951	Abnormality of the skin	81839	VANGL1	OMIM:600145
HP:0000951	Abnormality of the skin	257	ALX3	ORPHA:391474
HP:0000951	Abnormality of the skin	4488	MSX2	OMIM:168550
HP:0000951	Abnormality of the skin	57688	ZSWIM6	ORPHA:1827
HP:0000951	Abnormality of the skin	6857	SYT1	ORPHA:522077
HP:0000951	Abnormality of the skin	3868	KRT16	ORPHA:2309
HP:0000951	Abnormality of the skin	3872	KRT17	ORPHA:2309
HP:0000951	Abnormality of the skin	3853	KRT6A	ORPHA:2309
HP:0000951	Abnormality of the skin	3854	KRT6B	ORPHA:2309
HP:0000951	Abnormality of the skin	10161	LPAR6	OMIM:278150
HP:0000951	Abnormality of the skin	200879	LIPH	OMIM:604379
HP:0000951	Abnormality of the skin	51284	TLR7	OMIM:301080
HP:0000951	Abnormality of the skin	5566	PRKACA	OMIM:615830
HP:0000951	Abnormality of the skin	5566	PRKACA	ORPHA:189439
HP:0000951	Abnormality of the skin	79798	ARMC5	ORPHA:189427
HP:0000951	Abnormality of the skin	2778	GNAS	ORPHA:189427
HP:0000951	Abnormality of the skin	8622	PDE8B	ORPHA:189439
HP:0000951	Abnormality of the skin	5573	PRKAR1A	ORPHA:189439
HP:0000951	Abnormality of the skin	5573	PRKAR1A	ORPHA:1359
HP:0000951	Abnormality of the skin	50940	PDE11A	ORPHA:189439
HP:0000951	Abnormality of the skin	50940	PDE11A	ORPHA:1359
HP:0000951	Abnormality of the skin	7840	ALMS1	ORPHA:64
HP:0000951	Abnormality of the skin	93587	TRMT10A	ORPHA:391408
HP:0000951	Abnormality of the skin	93587	TRMT10A	OMIM:616033
HP:0000951	Abnormality of the skin	84919	PPP1R15B	ORPHA:391408
HP:0000951	Abnormality of the skin	10312	TCIRG1	ORPHA:486
HP:0000951	Abnormality of the skin	1991	ELANE	ORPHA:486
HP:0000951	Abnormality of the skin	2672	GFI1	ORPHA:486
HP:0000951	Abnormality of the skin	6729	SRP54	ORPHA:486
HP:0000951	Abnormality of the skin	81570	CLPB	ORPHA:486
HP:0000951	Abnormality of the skin	4790	NFKB1	OMIM:616576
HP:0000951	Abnormality of the skin	90268	OTULIN	OMIM:619986
HP:0000951	Abnormality of the skin	9948	WDR1	OMIM:150550
HP:0000951	Abnormality of the skin	2316	FLNA	ORPHA:88630
HP:0000951	Abnormality of the skin	3417	IDH1	ORPHA:99646
HP:0000951	Abnormality of the skin	3858	KRT10	OMIM:607602
HP:0000951	Abnormality of the skin	84868	HAVCR2	ORPHA:86884
HP:0000951	Abnormality of the skin	5921	RASA1	ORPHA:90307
HP:0000951	Abnormality of the skin	9526	MPDU1	ORPHA:79323
HP:0000951	Abnormality of the skin	1280	COL2A1	ORPHA:485
HP:0000951	Abnormality of the skin	5580	PRKCD	OMIM:615559
HP:0000951	Abnormality of the skin	2702	GJA5	OMIM:612474
HP:0000951	Abnormality of the skin	2703	GJA8	OMIM:612474
HP:0000951	Abnormality of the skin	7286	TUFT1	OMIM:607655
HP:0000951	Abnormality of the skin	80326	WNT10A	OMIM:257980
HP:0000951	Abnormality of the skin	4292	MLH1	OMIM:158320
HP:0000951	Abnormality of the skin	4436	MSH2	OMIM:158320
HP:0000951	Abnormality of the skin	324	APC	ORPHA:99818
HP:0000951	Abnormality of the skin	324	APC	ORPHA:247806
HP:0000951	Abnormality of the skin	324	APC	ORPHA:79665
HP:0000951	Abnormality of the skin	9817	KEAP1	ORPHA:276399
HP:0000951	Abnormality of the skin	23405	DICER1	ORPHA:276399
HP:0000951	Abnormality of the skin	4693	NDP	ORPHA:891
HP:0000951	Abnormality of the skin	23554	TSPAN12	ORPHA:891
HP:0000951	Abnormality of the skin	4041	LRP5	ORPHA:891
HP:0000951	Abnormality of the skin	79797	ZNF408	ORPHA:891
HP:0000951	Abnormality of the skin	8322	FZD4	ORPHA:891
HP:0000951	Abnormality of the skin	3081	HGD	OMIM:203500
HP:0000951	Abnormality of the skin	5244	ABCB4	ORPHA:69665
HP:0000951	Abnormality of the skin	9971	NR1H4	ORPHA:69665
HP:0000951	Abnormality of the skin	23219	FBXO28	OMIM:619777
HP:0000951	Abnormality of the skin	2642	GCGR	ORPHA:438274
HP:0000951	Abnormality of the skin	5979	RET	OMIM:162300
HP:0000951	Abnormality of the skin	5979	RET	ORPHA:29072
HP:0000951	Abnormality of the skin	5979	RET	ORPHA:276621
HP:0000951	Abnormality of the skin	4128	MAOA	OMIM:300615
HP:0000951	Abnormality of the skin	1743	DLST	ORPHA:29072
HP:0000951	Abnormality of the skin	4191	MDH2	ORPHA:29072
HP:0000951	Abnormality of the skin	8402	SLC25A11	ORPHA:29072
HP:0000951	Abnormality of the skin	54949	SDHAF2	ORPHA:29072
HP:0000951	Abnormality of the skin	55654	TMEM127	ORPHA:29072
HP:0000951	Abnormality of the skin	4149	MAX	ORPHA:29072
HP:0000951	Abnormality of the skin	773	CACNA1A	ORPHA:2131
HP:0000951	Abnormality of the skin	6507	SLC1A3	ORPHA:2131
HP:0000951	Abnormality of the skin	477	ATP1A2	ORPHA:2131
HP:0000951	Abnormality of the skin	478	ATP1A3	ORPHA:2131
HP:0000951	Abnormality of the skin	1788	DNMT3A	ORPHA:276621
HP:0000951	Abnormality of the skin	2034	EPAS1	ORPHA:276621
HP:0000951	Abnormality of the skin	8131	NPRL3	ORPHA:98820
HP:0000951	Abnormality of the skin	10641	NPRL2	ORPHA:98820
HP:0000951	Abnormality of the skin	9681	DEPDC5	ORPHA:98820
HP:0000951	Abnormality of the skin	3172	HNF4A	OMIM:125850
HP:0000951	Abnormality of the skin	4913	NTHL1	ORPHA:454840
HP:0000951	Abnormality of the skin	64788	LMF1	OMIM:246650
HP:0000951	Abnormality of the skin	219972	MPEG1	OMIM:619223
HP:0000951	Abnormality of the skin	4141	MARS1	OMIM:619692
HP:0000951	Abnormality of the skin	341208	HEPHL1	OMIM:261990
HP:0000951	Abnormality of the skin	3071	NCKAP1L	OMIM:618982
HP:0000951	Abnormality of the skin	920	CD4	OMIM:619238
HP:0000951	Abnormality of the skin	55630	SLC39A4	OMIM:201100
HP:0000951	Abnormality of the skin	6720	SREBF1	OMIM:619016
HP:0000951	Abnormality of the skin	23590	PDSS1	OMIM:614651
HP:0000951	Abnormality of the skin	2312	FLG	OMIM:146700
HP:0000951	Abnormality of the skin	51816	ADA2	OMIM:182410
HP:0000951	Abnormality of the skin	5426	POLE	OMIM:618336
HP:0000951	Abnormality of the skin	5426	POLE	OMIM:615139
HP:0000951	Abnormality of the skin	171019	ADAMTS19	OMIM:620067
HP:0000951	Abnormality of the skin	3860	KRT13	OMIM:615785
HP:0000951	Abnormality of the skin	7174	TPP2	OMIM:619220
HP:0000951	Abnormality of the skin	57169	ZNFX1	OMIM:619644
HP:0000951	Abnormality of the skin	80067	DCAF17	ORPHA:3464
HP:0000951	Abnormality of the skin	23581	CASP14	OMIM:617320
HP:0000951	Abnormality of the skin	4487	MSX1	ORPHA:141291
HP:0000951	Abnormality of the skin	5818	NECTIN1	ORPHA:141291
HP:0000951	Abnormality of the skin	1188	CLCNKB	ORPHA:358
HP:0000951	Abnormality of the skin	6559	SLC12A3	ORPHA:358
HP:0000951	Abnormality of the skin	63916	ELMO2	ORPHA:3019
HP:0000951	Abnormality of the skin	5340	PLG	OMIM:619360
HP:0000951	Abnormality of the skin	284	ANGPT1	OMIM:619361
HP:0000951	Abnormality of the skin	26509	MYOF	OMIM:619366
HP:0000951	Abnormality of the skin	64711	HS3ST6	OMIM:619367
HP:0000951	Abnormality of the skin	3827	KNG1	OMIM:619363
HP:0000951	Abnormality of the skin	1776	DNASE1L3	ORPHA:36412
HP:0000951	Abnormality of the skin	3763	KCNJ6	ORPHA:435628
HP:0000951	Abnormality of the skin	10466	COG5	ORPHA:263487
HP:0000951	Abnormality of the skin	51116	MRPS2	OMIM:617950
HP:0000951	Abnormality of the skin	1861	TOR1A	OMIM:618947
HP:0000951	Abnormality of the skin	92344	GORAB	OMIM:231070
HP:0000951	Abnormality of the skin	6513	SLC2A1	ORPHA:1942
HP:0000951	Abnormality of the skin	8831	SYNGAP1	ORPHA:1942
HP:0000951	Abnormality of the skin	1173	AP2M1	ORPHA:1942
HP:0000951	Abnormality of the skin	6323	SCN1A	ORPHA:1942
HP:0000951	Abnormality of the skin	340533	NEXMIF	ORPHA:1942
HP:0000951	Abnormality of the skin	1106	CHD2	ORPHA:1942
HP:0000951	Abnormality of the skin	6529	SLC6A1	ORPHA:1942
HP:0000951	Abnormality of the skin	4052	LTBP1	ORPHA:90349
HP:0000951	Abnormality of the skin	30008	EFEMP2	ORPHA:90349
HP:0000951	Abnormality of the skin	9180	OSMR	OMIM:105250
HP:0000951	Abnormality of the skin	3122	HLA-DRA	ORPHA:505
HP:0000951	Abnormality of the skin	6786	STIM1	OMIM:612783
HP:0000951	Abnormality of the skin	7293	TNFRSF4	OMIM:615593
HP:0000951	Abnormality of the skin	3849	KRT2	ORPHA:455
HP:0000951	Abnormality of the skin	10320	IKZF1	ORPHA:36426
HP:0000951	Abnormality of the skin	4791	NFKB2	ORPHA:293978
HP:0000951	Abnormality of the skin	3458	IFNG	ORPHA:805
HP:0000951	Abnormality of the skin	7248	TSC1	ORPHA:805
HP:0000951	Abnormality of the skin	7248	TSC1	ORPHA:538
HP:0000951	Abnormality of the skin	7249	TSC2	ORPHA:805
HP:0000951	Abnormality of the skin	7249	TSC2	ORPHA:538
HP:0000951	Abnormality of the skin	815	CAMK2A	OMIM:617798
HP:0000951	Abnormality of the skin	3074	HEXB	ORPHA:309155
HP:0000951	Abnormality of the skin	55617	TASP1	OMIM:618950
HP:0000951	Abnormality of the skin	7306	TYRP1	ORPHA:79433
HP:0000951	Abnormality of the skin	83480	PUS3	ORPHA:488627
HP:0000951	Abnormality of the skin	54914	FOCAD	OMIM:619991
HP:0000951	Abnormality of the skin	2767	GNA11	ORPHA:1556
HP:0000951	Abnormality of the skin	151188	ARL6IP6	ORPHA:1556
HP:0000951	Abnormality of the skin	215	ABCD1	ORPHA:139399
HP:0000951	Abnormality of the skin	3937	LCP2	OMIM:619374
HP:0000951	Abnormality of the skin	7319	UBE2A	ORPHA:163956
HP:0000951	Abnormality of the skin	5663	PSEN1	OMIM:613737
HP:0000951	Abnormality of the skin	2859	GPR35	ORPHA:171
HP:0000951	Abnormality of the skin	10507	SEMA4D	ORPHA:171
HP:0000951	Abnormality of the skin	4485	MST1	ORPHA:171
HP:0000951	Abnormality of the skin	7253	TSHR	OMIM:609152
HP:0000951	Abnormality of the skin	5449	POU1F1	OMIM:613038
HP:0000951	Abnormality of the skin	6850	SYK	OMIM:619381
HP:0000951	Abnormality of the skin	10095	ARPC1B	OMIM:617718
HP:0000951	Abnormality of the skin	3594	IL12RB1	ORPHA:319552
HP:0000951	Abnormality of the skin	2677	GGCX	ORPHA:436274
HP:0000951	Abnormality of the skin	2677	GGCX	ORPHA:91135
HP:0000951	Abnormality of the skin	3115	HLA-DPB1	ORPHA:900
HP:0000951	Abnormality of the skin	5657	PRTN3	ORPHA:900
HP:0000951	Abnormality of the skin	3113	HLA-DPA1	ORPHA:900
HP:0000951	Abnormality of the skin	5184	PEPD	ORPHA:742
HP:0000951	Abnormality of the skin	63910	SLC17A9	OMIM:616063
HP:0000951	Abnormality of the skin	9333	TGM5	ORPHA:263534
HP:0000951	Abnormality of the skin	84818	IL17RC	ORPHA:1334
HP:0000951	Abnormality of the skin	64581	CLEC7A	ORPHA:1334
HP:0000951	Abnormality of the skin	112744	IL17F	ORPHA:1334
HP:0000951	Abnormality of the skin	7317	UBA1	OMIM:301054
HP:0000951	Abnormality of the skin	3889	KRT83	ORPHA:316
HP:0000951	Abnormality of the skin	11146	GLMN	ORPHA:83454
HP:0000951	Abnormality of the skin	596	BCL2	ORPHA:545
HP:0000951	Abnormality of the skin	3492	IGH	ORPHA:545
HP:0000951	Abnormality of the skin	604	BCL6	ORPHA:545
HP:0000951	Abnormality of the skin	23095	KIF1B	OMIM:256700
HP:0000951	Abnormality of the skin	6774	STAT3	ORPHA:2314
HP:0000951	Abnormality of the skin	27032	ATP2C1	ORPHA:2841
HP:0000951	Abnormality of the skin	55343	SLC35C1	ORPHA:99843
HP:0000951	Abnormality of the skin	57591	MRTFA	OMIM:618847
HP:0000951	Abnormality of the skin	1500	CTNND1	ORPHA:1997
HP:0000951	Abnormality of the skin	999	CDH1	ORPHA:1997
HP:0000951	Abnormality of the skin	128240	NAXE	OMIM:617186
HP:0000951	Abnormality of the skin	8974	P4HA2	ORPHA:397
HP:0000951	Abnormality of the skin	6890	TAP1	OMIM:604571
HP:0000951	Abnormality of the skin	6891	TAP2	OMIM:604571
HP:0000951	Abnormality of the skin	6892	TAPBP	OMIM:604571
HP:0000951	Abnormality of the skin	2038	EPB42	ORPHA:822
HP:0000951	Abnormality of the skin	9790	BMS1	ORPHA:1114
HP:0000951	Abnormality of the skin	10054	UBA2	ORPHA:1114
HP:0000951	Abnormality of the skin	2632	GBE1	ORPHA:206583
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231214
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231222
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231226
HP:0000951	Abnormality of the skin	22948	CCT5	ORPHA:139578
HP:0000951	Abnormality of the skin	204	AK2	ORPHA:33355
HP:0000951	Abnormality of the skin	8547	FCN3	OMIM:613860
HP:0000951	Abnormality of the skin	2624	GATA2	OMIM:614038
HP:0000951	Abnormality of the skin	10625	IVNS1ABP	OMIM:618969
HP:0000951	Abnormality of the skin	54440	SASH3	OMIM:301082
HP:0000951	Abnormality of the skin	6789	STK4	OMIM:614868
HP:0000951	Abnormality of the skin	6929	TCF3	ORPHA:33110
HP:0000951	Abnormality of the skin	973	CD79A	ORPHA:33110
HP:0000951	Abnormality of the skin	974	CD79B	ORPHA:33110
HP:0000951	Abnormality of the skin	3543	IGLL1	ORPHA:33110
HP:0000951	Abnormality of the skin	3507	IGHM	ORPHA:33110
HP:0000951	Abnormality of the skin	29760	BLNK	ORPHA:33110
HP:0000951	Abnormality of the skin	56262	LRRC8A	ORPHA:33110
HP:0000951	Abnormality of the skin	267010	RNU12	OMIM:603116
HP:0000951	Abnormality of the skin	2224	FDPS	OMIM:616631
HP:0000951	Abnormality of the skin	2224	FDPS	ORPHA:79152
HP:0000951	Abnormality of the skin	29968	PSAT1	ORPHA:284417
HP:0000951	Abnormality of the skin	29968	PSAT1	OMIM:610992
HP:0000951	Abnormality of the skin	6335	SCN9A	ORPHA:33069
HP:0000951	Abnormality of the skin	6326	SCN2A	ORPHA:33069
HP:0000951	Abnormality of the skin	2554	GABRA1	ORPHA:33069
HP:0000951	Abnormality of the skin	6324	SCN1B	ORPHA:33069
HP:0000951	Abnormality of the skin	57526	PCDH19	ORPHA:33069
HP:0000951	Abnormality of the skin	2566	GABRG2	ORPHA:33069
HP:0000951	Abnormality of the skin	1830	DSG3	OMIM:619226
HP:0000952	Jaundice	3561	IL2RG	ORPHA:276
HP:0000952	Jaundice	3376	IARS1	OMIM:617093
HP:0000952	Jaundice	229	ALDOB	OMIM:229600
HP:0000952	Jaundice	229	ALDOB	ORPHA:469
HP:0000952	Jaundice	55532	SLC30A10	ORPHA:309854
HP:0000952	Jaundice	8573	CASK	OMIM:300908
HP:0000952	Jaundice	2539	G6PD	OMIM:300908
HP:0000952	Jaundice	3048	HBG2	OMIM:613977
HP:0000952	Jaundice	5830	PEX5	OMIM:214110
HP:0000952	Jaundice	5830	PEX5	ORPHA:912
HP:0000952	Jaundice	80270	HSD3B7	ORPHA:79301
HP:0000952	Jaundice	80270	HSD3B7	OMIM:607765
HP:0000952	Jaundice	5314	PKHD1	ORPHA:53035
HP:0000952	Jaundice	5314	PKHD1	ORPHA:731
HP:0000952	Jaundice	9420	CYP7B1	ORPHA:79302
HP:0000952	Jaundice	9420	CYP7B1	OMIM:613812
HP:0000952	Jaundice	2038	EPB42	ORPHA:822
HP:0000952	Jaundice	2038	EPB42	OMIM:612690
HP:0000952	Jaundice	6708	SPTA1	ORPHA:822
HP:0000952	Jaundice	6708	SPTA1	ORPHA:288
HP:0000952	Jaundice	286	ANK1	ORPHA:822
HP:0000952	Jaundice	286	ANK1	OMIM:182900
HP:0000952	Jaundice	6718	AKR1D1	ORPHA:79303
HP:0000952	Jaundice	6718	AKR1D1	OMIM:235555
HP:0000952	Jaundice	84936	ZFYVE19	OMIM:619849
HP:0000952	Jaundice	54658	UGT1A1	OMIM:143500
HP:0000952	Jaundice	54658	UGT1A1	OMIM:237900
HP:0000952	Jaundice	54658	UGT1A1	OMIM:606785
HP:0000952	Jaundice	54658	UGT1A1	OMIM:218800
HP:0000952	Jaundice	55687	TRMU	OMIM:613070
HP:0000952	Jaundice	3043	HBB	OMIM:603903
HP:0000952	Jaundice	3043	HBB	ORPHA:231214
HP:0000952	Jaundice	3043	HBB	ORPHA:231222
HP:0000952	Jaundice	3043	HBB	ORPHA:231226
HP:0000952	Jaundice	60561	RINT1	OMIM:618641
HP:0000952	Jaundice	2859	GPR35	ORPHA:171
HP:0000952	Jaundice	10507	SEMA4D	ORPHA:171
HP:0000952	Jaundice	4485	MST1	ORPHA:171
HP:0000952	Jaundice	6925	TCF4	ORPHA:171
HP:0000952	Jaundice	11232	POLG2	OMIM:618528
HP:0000952	Jaundice	8942	KYNU	OMIM:236800
HP:0000952	Jaundice	1716	DGUOK	OMIM:251880
HP:0000952	Jaundice	2035	EPB41	ORPHA:288
HP:0000952	Jaundice	2035	EPB41	OMIM:611804
HP:0000952	Jaundice	2995	GYPC	ORPHA:288
HP:0000952	Jaundice	1130	LYST	ORPHA:167
HP:0000952	Jaundice	1130	LYST	OMIM:214500
HP:0000952	Jaundice	5313	PKLR	OMIM:266200
HP:0000952	Jaundice	5244	ABCB4	OMIM:614972
HP:0000952	Jaundice	5244	ABCB4	OMIM:602347
HP:0000952	Jaundice	5244	ABCB4	ORPHA:69665
HP:0000952	Jaundice	5244	ABCB4	OMIM:600803
HP:0000952	Jaundice	63894	VIPAS39	OMIM:613404
HP:0000952	Jaundice	4645	MYO5B	OMIM:619868
HP:0000952	Jaundice	2313	FLI1	ORPHA:370348
HP:0000952	Jaundice	1244	ABCC2	ORPHA:234
HP:0000952	Jaundice	1244	ABCC2	OMIM:237500
HP:0000952	Jaundice	51594	NBAS	OMIM:616483
HP:0000952	Jaundice	5311	PKD2	OMIM:613095
HP:0000952	Jaundice	54914	FOCAD	OMIM:619991
HP:0000952	Jaundice	10068	IL18BP	OMIM:618549
HP:0000952	Jaundice	5828	PEX2	OMIM:614866
HP:0000952	Jaundice	5828	PEX2	ORPHA:912
HP:0000952	Jaundice	540	ATP7B	ORPHA:905
HP:0000952	Jaundice	540	ATP7B	OMIM:277900
HP:0000952	Jaundice	5265	SERPINA1	ORPHA:60
HP:0000952	Jaundice	5428	POLG	OMIM:203700
HP:0000952	Jaundice	5551	PRF1	OMIM:603553
HP:0000952	Jaundice	5551	PRF1	ORPHA:540
HP:0000952	Jaundice	8676	STX11	OMIM:603552
HP:0000952	Jaundice	8676	STX11	ORPHA:540
HP:0000952	Jaundice	9095	TBX19	OMIM:201400
HP:0000952	Jaundice	9971	NR1H4	ORPHA:69665
HP:0000952	Jaundice	9971	NR1H4	OMIM:617049
HP:0000952	Jaundice	55670	PEX26	OMIM:614872
HP:0000952	Jaundice	55670	PEX26	ORPHA:912
HP:0000952	Jaundice	10165	SLC25A13	ORPHA:247598
HP:0000952	Jaundice	9409	PEX16	OMIM:614876
HP:0000952	Jaundice	9409	PEX16	ORPHA:912
HP:0000952	Jaundice	2729	GCLC	ORPHA:33574
HP:0000952	Jaundice	91949	COG7	ORPHA:79333
HP:0000952	Jaundice	91949	COG7	OMIM:608779
HP:0000952	Jaundice	9968	MED12	OMIM:301068
HP:0000952	Jaundice	811	CALR	ORPHA:131
HP:0000952	Jaundice	3717	JAK2	ORPHA:131
HP:0000952	Jaundice	2153	F5	ORPHA:131
HP:0000952	Jaundice	11330	CTRC	ORPHA:103918
HP:0000952	Jaundice	11330	CTRC	ORPHA:676
HP:0000952	Jaundice	6690	SPINK1	ORPHA:103918
HP:0000952	Jaundice	6690	SPINK1	ORPHA:676
HP:0000952	Jaundice	79989	IFT56	OMIM:619534
HP:0000952	Jaundice	9652	SKIC3	OMIM:222470
HP:0000952	Jaundice	5213	PFKM	OMIM:232800
HP:0000952	Jaundice	54532	USP53	OMIM:619658
HP:0000952	Jaundice	5195	PEX14	OMIM:614887
HP:0000952	Jaundice	5195	PEX14	ORPHA:912
HP:0000952	Jaundice	29929	ALG6	ORPHA:79320
HP:0000952	Jaundice	5825	ABCD3	OMIM:616278
HP:0000952	Jaundice	113220	KIF12	OMIM:619662
HP:0000952	Jaundice	27429	HTRA2	OMIM:617248
HP:0000952	Jaundice	5824	PEX19	ORPHA:912
HP:0000952	Jaundice	8504	PEX3	ORPHA:912
HP:0000952	Jaundice	8799	PEX11B	ORPHA:912
HP:0000952	Jaundice	5190	PEX6	ORPHA:912
HP:0000952	Jaundice	5189	PEX1	ORPHA:912
HP:0000952	Jaundice	5193	PEX12	ORPHA:912
HP:0000952	Jaundice	5194	PEX13	ORPHA:912
HP:0000952	Jaundice	5192	PEX10	ORPHA:912
HP:0000952	Jaundice	6006	RHCE	ORPHA:71275
HP:0000952	Jaundice	6007	RHD	ORPHA:71275
HP:0000952	Jaundice	10159	ATP6AP2	OMIM:301045
HP:0000952	Jaundice	3155	HMGCL	ORPHA:20
HP:0000952	Jaundice	7167	TPI1	OMIM:615512
HP:0000952	Jaundice	763	CA5A	OMIM:615751
HP:0000952	Jaundice	84529	CDIN1	OMIM:615631
HP:0000952	Jaundice	1798	DPAGT1	OMIM:608093
HP:0000952	Jaundice	3875	KRT18	OMIM:215600
HP:0000952	Jaundice	4023	LPL	OMIM:238600
HP:0000952	Jaundice	201294	UNC13D	ORPHA:540
HP:0000952	Jaundice	6813	STXBP2	ORPHA:540
HP:0000952	Jaundice	672	BRCA1	ORPHA:70567
HP:0000952	Jaundice	672	BRCA1	ORPHA:1333
HP:0000952	Jaundice	675	BRCA2	ORPHA:70567
HP:0000952	Jaundice	675	BRCA2	ORPHA:1333
HP:0000952	Jaundice	5774	PTPN3	ORPHA:70567
HP:0000952	Jaundice	11093	ADAMTS13	OMIM:274150
HP:0000952	Jaundice	6513	SLC2A1	OMIM:608885
HP:0000952	Jaundice	6513	SLC2A1	ORPHA:168577
HP:0000952	Jaundice	3930	LBR	ORPHA:779
HP:0000952	Jaundice	3930	LBR	OMIM:613471
HP:0000952	Jaundice	9076	CLDN1	ORPHA:59303
HP:0000952	Jaundice	9076	CLDN1	OMIM:607626
HP:0000952	Jaundice	7849	PAX8	ORPHA:95720
HP:0000952	Jaundice	7849	PAX8	ORPHA:95712
HP:0000952	Jaundice	7253	TSHR	ORPHA:95720
HP:0000952	Jaundice	5172	SLC26A4	ORPHA:95720
HP:0000952	Jaundice	2592	GALT	ORPHA:79239
HP:0000952	Jaundice	51473	DCDC2	OMIM:617394
HP:0000952	Jaundice	51218	GLRX5	OMIM:616860
HP:0000952	Jaundice	2821	GPI	OMIM:613470
HP:0000952	Jaundice	50619	DEF6	OMIM:619573
HP:0000952	Jaundice	7019	TFAM	OMIM:617156
HP:0000952	Jaundice	8260	NAA10	OMIM:300855
HP:0000952	Jaundice	4358	MPV17	OMIM:256810
HP:0000952	Jaundice	3431	SP110	ORPHA:79124
HP:0000952	Jaundice	1482	NKX2-5	ORPHA:95712
HP:0000952	Jaundice	5277	PIGA	ORPHA:447
HP:0000952	Jaundice	26276	VPS33B	OMIM:208085
HP:0000952	Jaundice	26276	VPS33B	OMIM:620010
HP:0000952	Jaundice	7289	TULP3	OMIM:619902
HP:0000952	Jaundice	285282	RABL3	ORPHA:1333
HP:0000952	Jaundice	7157	TP53	ORPHA:1333
HP:0000952	Jaundice	3845	KRAS	ORPHA:1333
HP:0000952	Jaundice	1029	CDKN2A	ORPHA:1333
HP:0000952	Jaundice	79728	PALB2	ORPHA:1333
HP:0000952	Jaundice	4089	SMAD4	ORPHA:1333
HP:0000952	Jaundice	23022	PALLD	ORPHA:1333
HP:0000952	Jaundice	84701	COX4I2	OMIM:612714
HP:0000952	Jaundice	9493	KIF23	OMIM:105600
HP:0000952	Jaundice	5873	RAB27A	ORPHA:79477
HP:0000952	Jaundice	5644	PRSS1	ORPHA:676
HP:0000952	Jaundice	5645	PRSS2	ORPHA:676
HP:0000952	Jaundice	846	CASR	ORPHA:676
HP:0000952	Jaundice	1080	CFTR	ORPHA:676
HP:0000952	Jaundice	1357	CPA1	ORPHA:676
HP:0000952	Jaundice	538	ATP7A	ORPHA:198
HP:0000952	Jaundice	570	BAAT	OMIM:619232
HP:0000952	Jaundice	6711	SPTBN1	OMIM:619475
HP:0000952	Jaundice	6928	HNF1B	ORPHA:93111
HP:0000952	Jaundice	286410	ATP11C	OMIM:301015
HP:0000952	Jaundice	3594	IL12RB1	ORPHA:186
HP:0000952	Jaundice	23534	TNPO3	ORPHA:186
HP:0000952	Jaundice	3592	IL12A	ORPHA:186
HP:0000952	Jaundice	6689	SPIB	ORPHA:186
HP:0000952	Jaundice	5450	POU2AF1	ORPHA:186
HP:0000952	Jaundice	9966	TNFSF15	ORPHA:186
HP:0000952	Jaundice	79258	MMEL1	ORPHA:186
HP:0000952	Jaundice	3663	IRF5	ORPHA:186
HP:0000952	Jaundice	10483	SEC23B	OMIM:224100
HP:0000952	Jaundice	51124	IER3IP1	OMIM:614231
HP:0000952	Jaundice	3098	HK1	OMIM:235700
HP:0000952	Jaundice	226	ALDOA	OMIM:611881
HP:0000952	Jaundice	100506658	OCLN	OMIM:251290
HP:0000952	Jaundice	5573	PRKAR1A	ORPHA:615
HP:0000952	Jaundice	199221	DZIP1L	ORPHA:731
HP:0000952	Jaundice	2215	FCGR3B	ORPHA:464370
HP:0000952	Jaundice	10577	NPC2	OMIM:607625
HP:0000952	Jaundice	7390	UROS	OMIM:263700
HP:0000952	Jaundice	5449	POU1F1	OMIM:613038
HP:0000952	Jaundice	25974	MMACHC	ORPHA:79282
HP:0000952	Jaundice	1371	CPOX	OMIM:121300
HP:0000952	Jaundice	1719	DHFR	OMIM:613839
HP:0000952	Jaundice	9451	EIF2AK3	ORPHA:1667
HP:0000952	Jaundice	37	ACADVL	ORPHA:26793
HP:0000952	Jaundice	2108	ETFA	OMIM:231680
HP:0000952	Jaundice	2109	ETFB	OMIM:231680
HP:0000952	Jaundice	2110	ETFDH	OMIM:231680
HP:0000952	Jaundice	3988	LIPA	ORPHA:75234
HP:0000952	Jaundice	2582	GALE	OMIM:230350
HP:0000952	Jaundice	5205	ATP8B1	OMIM:243300
HP:0000952	Jaundice	8647	ABCB11	OMIM:601847
HP:0000952	Jaundice	28234	SLCO1B3	ORPHA:3111
HP:0000952	Jaundice	10599	SLCO1B1	ORPHA:3111
HP:0000952	Jaundice	6710	SPTB	OMIM:617948
HP:0000952	Jaundice	6521	SLC4A1	ORPHA:3202
HP:0000952	Jaundice	9780	PIEZO1	ORPHA:3202
HP:0000952	Jaundice	3783	KCNN4	ORPHA:3202
HP:0000952	Jaundice	6005	RHAG	ORPHA:3203
HP:0000952	Jaundice	10664	CTCF	ORPHA:363611
HP:0000952	Jaundice	23446	SLC44A1	OMIM:618868
HP:0000952	Jaundice	5626	PROP1	ORPHA:226307
HP:0000952	Jaundice	89884	LHX4	ORPHA:226307
HP:0000952	Jaundice	8022	LHX3	ORPHA:226307
HP:0000952	Jaundice	8820	HESX1	ORPHA:226307
HP:0000952	Jaundice	1593	CYP27A1	ORPHA:909
HP:0000952	Jaundice	100151683	RNU4ATAC	OMIM:210710
HP:0000952	Jaundice	2584	GALK1	OMIM:230200
HP:0000952	Jaundice	23600	AMACR	OMIM:214950
HP:0000952	Jaundice	8405	SPOP	OMIM:618828
HP:0000952	Jaundice	8085	KMT2D	OMIM:620186
HP:0000952	Jaundice	6609	SMPD1	OMIM:257200
HP:0000952	Jaundice	64324	NSD1	ORPHA:821
HP:0000952	Jaundice	64324	NSD1	OMIM:117550
HP:0000952	Jaundice	29072	SETD2	ORPHA:821
HP:0000952	Jaundice	10297	APC2	ORPHA:821
HP:0000952	Jaundice	123264	SLC51B	OMIM:619481
HP:0000952	Jaundice	5631	PRPS1	ORPHA:423479
HP:0000952	Jaundice	11277	TREX1	OMIM:225750
HP:0000952	Jaundice	11277	TREX1	ORPHA:51
HP:0000952	Jaundice	200894	ARL13B	OMIM:612291
HP:0000952	Jaundice	10525	HYOU1	OMIM:233600
HP:0000952	Jaundice	5184	PEPD	OMIM:170100
HP:0000952	Jaundice	50506	DUOX2	ORPHA:226316
HP:0000952	Jaundice	50506	DUOX2	ORPHA:95716
HP:0000952	Jaundice	55904	KMT2E	OMIM:618512
HP:0000952	Jaundice	182	JAG1	OMIM:118450
HP:0000952	Jaundice	2542	SLC37A4	OMIM:619525
HP:0000952	Jaundice	25973	PARS2	OMIM:618437
HP:0000952	Jaundice	7252	TSHB	ORPHA:90674
HP:0000952	Jaundice	6554	SLC10A1	OMIM:619256
HP:0000952	Jaundice	55898	UNC45A	OMIM:619377
HP:0000952	Jaundice	537	ATP6AP1	OMIM:300972
HP:0000952	Jaundice	130589	GALM	OMIM:618881
HP:0000952	Jaundice	8565	YARS1	OMIM:619418
HP:0000952	Jaundice	405753	DUOXA2	ORPHA:95716
HP:0000952	Jaundice	6528	SLC5A5	ORPHA:95716
HP:0000952	Jaundice	7038	TG	ORPHA:95716
HP:0000952	Jaundice	7173	TPO	ORPHA:95716
HP:0000952	Jaundice	389434	IYD	ORPHA:95716
HP:0000952	Jaundice	84317	CCDC115	OMIM:616828
HP:0000952	Jaundice	4864	NPC1	OMIM:257220
HP:0000952	Jaundice	7201	TRHR	ORPHA:99832
HP:0000952	Jaundice	6567	SLC16A2	ORPHA:59
HP:0000952	Jaundice	2688	GH1	OMIM:262400
HP:0000952	Jaundice	146059	CDAN1	OMIM:224120
HP:0000952	Jaundice	10535	RNASEH2A	ORPHA:51
HP:0000952	Jaundice	84153	RNASEH2C	ORPHA:51
HP:0000952	Jaundice	25939	SAMHD1	ORPHA:51
HP:0000952	Jaundice	79621	RNASEH2B	ORPHA:51
HP:0000952	Jaundice	103	ADAR	ORPHA:51
HP:0000952	Jaundice	100147744	RNU7-1	ORPHA:51
HP:0000952	Jaundice	134353	LSM11	ORPHA:51
HP:0000952	Jaundice	64135	IFIH1	ORPHA:51
HP:0000953	Hyperpigmentation of the skin	128	ADH5	OMIM:619151
HP:0000953	Hyperpigmentation of the skin	6016	RIT1	OMIM:615355
HP:0000953	Hyperpigmentation of the skin	118429	ANTXR2	ORPHA:2176
HP:0000953	Hyperpigmentation of the skin	4173	MCM4	OMIM:609981
HP:0000953	Hyperpigmentation of the skin	64324	NSD1	ORPHA:821
HP:0000953	Hyperpigmentation of the skin	29072	SETD2	ORPHA:821
HP:0000953	Hyperpigmentation of the skin	10297	APC2	ORPHA:821
HP:0000953	Hyperpigmentation of the skin	10999	SLC27A4	OMIM:608649
HP:0000953	Hyperpigmentation of the skin	55315	SLC29A3	OMIM:602782
HP:0000953	Hyperpigmentation of the skin	55315	SLC29A3	ORPHA:168569
HP:0000953	Hyperpigmentation of the skin	1584	CYP11B1	OMIM:202010
HP:0000953	Hyperpigmentation of the skin	1584	CYP11B1	ORPHA:90795
HP:0000953	Hyperpigmentation of the skin	3284	HSD3B2	ORPHA:90791
HP:0000953	Hyperpigmentation of the skin	10651	MTX2	ORPHA:90153
HP:0000953	Hyperpigmentation of the skin	8626	TP63	OMIM:106260
HP:0000953	Hyperpigmentation of the skin	84196	USP48	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	7157	TP53	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	9101	USP8	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	64072	CDH23	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	2908	NR3C1	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	546	ATRX	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	10804	GJB6	OMIM:129500
HP:0000953	Hyperpigmentation of the skin	10804	GJB6	ORPHA:189
HP:0000953	Hyperpigmentation of the skin	7389	UROD	ORPHA:95159
HP:0000953	Hyperpigmentation of the skin	54539	NDUFB11	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	1349	COX7B	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	3052	HCCS	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	212	ALAS2	ORPHA:75563
HP:0000953	Hyperpigmentation of the skin	215	ABCD1	OMIM:300100
HP:0000953	Hyperpigmentation of the skin	23592	LEMD3	ORPHA:94063
HP:0000953	Hyperpigmentation of the skin	1371	CPOX	OMIM:618892
HP:0000953	Hyperpigmentation of the skin	6638	SNRPN	ORPHA:177907
HP:0000953	Hyperpigmentation of the skin	5498	PPOX	ORPHA:79473
HP:0000953	Hyperpigmentation of the skin	56244	BTNL2	ORPHA:797
HP:0000953	Hyperpigmentation of the skin	3123	HLA-DRB1	ORPHA:797
HP:0000953	Hyperpigmentation of the skin	3077	HFE	OMIM:235200
HP:0000953	Hyperpigmentation of the skin	3077	HFE	ORPHA:465508
HP:0000953	Hyperpigmentation of the skin	650	BMP2	OMIM:235200
HP:0000953	Hyperpigmentation of the skin	55131	RBM28	ORPHA:157954
HP:0000953	Hyperpigmentation of the skin	3043	HBB	ORPHA:231214
HP:0000953	Hyperpigmentation of the skin	3043	HBB	ORPHA:231226
HP:0000953	Hyperpigmentation of the skin	8879	SGPL1	OMIM:617575
HP:0000953	Hyperpigmentation of the skin	9401	RECQL4	ORPHA:221016
HP:0000953	Hyperpigmentation of the skin	5293	PIK3CD	ORPHA:221139
HP:0000953	Hyperpigmentation of the skin	90417	KNSTRN	ORPHA:221139
HP:0000953	Hyperpigmentation of the skin	80025	PANK2	OMIM:234200
HP:0000953	Hyperpigmentation of the skin	7036	TFR2	OMIM:604250
HP:0000953	Hyperpigmentation of the skin	190	NR0B1	OMIM:300200
HP:0000953	Hyperpigmentation of the skin	3594	IL12RB1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	23534	TNPO3	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	3592	IL12A	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	6689	SPIB	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	5450	POU2AF1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	9966	TNFSF15	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	79258	MMEL1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	3663	IRF5	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	2629	GBA1	OMIM:230800
HP:0000953	Hyperpigmentation of the skin	3718	JAK3	ORPHA:35078
HP:0000953	Hyperpigmentation of the skin	348	APOE	ORPHA:158029
HP:0000953	Hyperpigmentation of the skin	7390	UROS	OMIM:263700
HP:0000953	Hyperpigmentation of the skin	7390	UROS	ORPHA:79277
HP:0000953	Hyperpigmentation of the skin	654	BMP6	ORPHA:465508
HP:0000953	Hyperpigmentation of the skin	64127	NOD2	ORPHA:90340
HP:0000953	Hyperpigmentation of the skin	5429	POLH	ORPHA:90342
HP:0000953	Hyperpigmentation of the skin	9333	TGM5	ORPHA:263534
HP:0000953	Hyperpigmentation of the skin	1475	CSTA	ORPHA:263534
HP:0000953	Hyperpigmentation of the skin	6391	SDHC	OMIM:606764
HP:0000953	Hyperpigmentation of the skin	55181	SMG8	OMIM:619268
HP:0000953	Hyperpigmentation of the skin	55367	PIDD1	OMIM:619827
HP:0000953	Hyperpigmentation of the skin	5696	PSMB8	OMIM:256040
HP:0000953	Hyperpigmentation of the skin	2623	GATA1	ORPHA:79277
HP:0000953	Hyperpigmentation of the skin	6232	RPS27	OMIM:617409
HP:0000953	Hyperpigmentation of the skin	3479	IGF1	ORPHA:73272
HP:0000953	Hyperpigmentation of the skin	8036	SHOC2	OMIM:607721
HP:0000953	Hyperpigmentation of the skin	8367	H4C5	OMIM:619950
HP:0000953	Hyperpigmentation of the skin	8216	LZTR1	OMIM:616564
HP:0000953	Hyperpigmentation of the skin	8216	LZTR1	OMIM:605275
HP:0000953	Hyperpigmentation of the skin	4683	NBN	OMIM:251260
HP:0000953	Hyperpigmentation of the skin	55240	STEAP3	OMIM:615234
HP:0000953	Hyperpigmentation of the skin	55240	STEAP3	ORPHA:300298
HP:0000953	Hyperpigmentation of the skin	55654	TMEM127	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	5979	RET	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	6390	SDHB	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	6392	SDHD	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	4149	MAX	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	7428	VHL	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	161742	SPRED1	OMIM:611431
HP:0000953	Hyperpigmentation of the skin	5894	RAF1	OMIM:611554
HP:0000953	Hyperpigmentation of the skin	5894	RAF1	OMIM:611553
HP:0000953	Hyperpigmentation of the skin	324	APC	ORPHA:99818
HP:0000953	Hyperpigmentation of the skin	26040	SETBP1	ORPHA:436151
HP:0000953	Hyperpigmentation of the skin	64682	ANAPC1	OMIM:618625
HP:0000953	Hyperpigmentation of the skin	10060	ABCC9	OMIM:619719
HP:0000953	Hyperpigmentation of the skin	84570	COL25A1	ORPHA:91411
HP:0000953	Hyperpigmentation of the skin	79776	ZFHX4	ORPHA:91411
HP:0000953	Hyperpigmentation of the skin	6548	SLC9A1	OMIM:616291
HP:0000953	Hyperpigmentation of the skin	197131	UBR1	OMIM:243800
HP:0000953	Hyperpigmentation of the skin	2175	FANCA	OMIM:227650
HP:0000953	Hyperpigmentation of the skin	55215	FANCI	OMIM:609053
HP:0000953	Hyperpigmentation of the skin	4893	NRAS	OMIM:613224
HP:0000953	Hyperpigmentation of the skin	472	ATM	OMIM:208900
HP:0000953	Hyperpigmentation of the skin	2188	FANCF	OMIM:603467
HP:0000953	Hyperpigmentation of the skin	284058	KANSL1	ORPHA:363958
HP:0000953	Hyperpigmentation of the skin	284058	KANSL1	ORPHA:363965
HP:0000953	Hyperpigmentation of the skin	3481	IGF2	OMIM:180860
HP:0000953	Hyperpigmentation of the skin	3481	IGF2	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	2178	FANCE	OMIM:600901
HP:0000953	Hyperpigmentation of the skin	7156	TOP3A	OMIM:618097
HP:0000953	Hyperpigmentation of the skin	2475	MTOR	ORPHA:457485
HP:0000953	Hyperpigmentation of the skin	2475	MTOR	OMIM:616638
HP:0000953	Hyperpigmentation of the skin	6663	SOX10	OMIM:611584
HP:0000953	Hyperpigmentation of the skin	51729	WBP11	OMIM:619227
HP:0000953	Hyperpigmentation of the skin	5116	PCNT	OMIM:210720
HP:0000953	Hyperpigmentation of the skin	4771	NF2	OMIM:101000
HP:0000953	Hyperpigmentation of the skin	699	BUB1	OMIM:620183
HP:0000953	Hyperpigmentation of the skin	1186	CLCN7	OMIM:618541
HP:0000953	Hyperpigmentation of the skin	1387	CREBBP	OMIM:180849
HP:0000953	Hyperpigmentation of the skin	2033	EP300	OMIM:180849
HP:0000953	Hyperpigmentation of the skin	7249	TSC2	OMIM:613254
HP:0000953	Hyperpigmentation of the skin	3458	IFNG	OMIM:613254
HP:0000953	Hyperpigmentation of the skin	10283	CWC27	OMIM:250410
HP:0000953	Hyperpigmentation of the skin	10283	CWC27	ORPHA:166035
HP:0000953	Hyperpigmentation of the skin	8936	WASF1	OMIM:618707
HP:0000953	Hyperpigmentation of the skin	55719	SLF2	OMIM:620184
HP:0000953	Hyperpigmentation of the skin	5605	MAP2K2	OMIM:615280
HP:0000953	Hyperpigmentation of the skin	285590	SH3PXD2B	OMIM:249420
HP:0000953	Hyperpigmentation of the skin	5594	MAPK1	OMIM:619087
HP:0000953	Hyperpigmentation of the skin	9702	CEP57	OMIM:614114
HP:0000953	Hyperpigmentation of the skin	1028	CDKN1C	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	5324	PLAG1	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	8091	HMGA2	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	641	BLM	OMIM:210900
HP:0000953	Hyperpigmentation of the skin	641	BLM	ORPHA:125
HP:0000953	Hyperpigmentation of the skin	5500	PPP1CB	OMIM:617506
HP:0000953	Hyperpigmentation of the skin	7248	TSC1	OMIM:191100
HP:0000953	Hyperpigmentation of the skin	79728	PALB2	OMIM:610832
HP:0000953	Hyperpigmentation of the skin	675	BRCA2	OMIM:605724
HP:0000953	Hyperpigmentation of the skin	2177	FANCD2	OMIM:227646
HP:0000953	Hyperpigmentation of the skin	2176	FANCC	OMIM:227645
HP:0000953	Hyperpigmentation of the skin	55120	FANCL	OMIM:614083
HP:0000953	Hyperpigmentation of the skin	9968	MED12	OMIM:300895
HP:0000953	Hyperpigmentation of the skin	4221	MEN1	OMIM:131100
HP:0000953	Hyperpigmentation of the skin	9652	SKIC3	OMIM:222470
HP:0000953	Hyperpigmentation of the skin	9652	SKIC3	ORPHA:84064
HP:0000953	Hyperpigmentation of the skin	55023	PHIP	OMIM:617991
HP:0000953	Hyperpigmentation of the skin	55023	PHIP	ORPHA:589905
HP:0000953	Hyperpigmentation of the skin	1315	COPB1	OMIM:619255
HP:0000953	Hyperpigmentation of the skin	84464	SLX4	OMIM:613951
HP:0000953	Hyperpigmentation of the skin	157570	ESCO2	OMIM:268300
HP:0000953	Hyperpigmentation of the skin	6595	SMARCA2	OMIM:601358
HP:0000953	Hyperpigmentation of the skin	5781	PTPN11	OMIM:151100
HP:0000953	Hyperpigmentation of the skin	5781	PTPN11	OMIM:163950
HP:0000953	Hyperpigmentation of the skin	867	CBL	OMIM:613563
HP:0000953	Hyperpigmentation of the skin	6499	SKIC2	ORPHA:84064
HP:0000953	Hyperpigmentation of the skin	22907	DHX30	OMIM:617804
HP:0000953	Hyperpigmentation of the skin	5426	POLE	OMIM:618336
HP:0000953	Hyperpigmentation of the skin	5604	MAP2K1	OMIM:163950
HP:0000953	Hyperpigmentation of the skin	673	BRAF	OMIM:163950
HP:0000953	Hyperpigmentation of the skin	8085	KMT2D	OMIM:147920
HP:0000953	Hyperpigmentation of the skin	7403	KDM6A	OMIM:147920
HP:0000953	Hyperpigmentation of the skin	25778	DSTYK	ORPHA:101003
HP:0000953	Hyperpigmentation of the skin	25778	DSTYK	OMIM:270750
HP:0000953	Hyperpigmentation of the skin	23141	ANKLE2	OMIM:616681
HP:0000953	Hyperpigmentation of the skin	112858	TP53RK	OMIM:617730
HP:0000953	Hyperpigmentation of the skin	3815	KIT	OMIM:154800
HP:0000953	Hyperpigmentation of the skin	3815	KIT	ORPHA:79455
HP:0000953	Hyperpigmentation of the skin	23135	KDM6B	OMIM:618505
HP:0000953	Hyperpigmentation of the skin	5290	PIK3CA	ORPHA:60040
HP:0000953	Hyperpigmentation of the skin	60	ACTB	ORPHA:64755
HP:0000953	Hyperpigmentation of the skin	3569	IL6	OMIM:148000
HP:0000953	Hyperpigmentation of the skin	4254	KITLG	OMIM:145250
HP:0000953	Hyperpigmentation of the skin	4254	KITLG	OMIM:619947
HP:0000953	Hyperpigmentation of the skin	2261	FGFR3	ORPHA:53271
HP:0000953	Hyperpigmentation of the skin	56983	POGLUT1	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	3852	KRT5	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	3852	KRT5	ORPHA:79397
HP:0000953	Hyperpigmentation of the skin	3852	KRT5	ORPHA:79399
HP:0000953	Hyperpigmentation of the skin	23509	POFUT1	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	55851	PSENEN	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	56916	SMARCAD1	OMIM:129200
HP:0000953	Hyperpigmentation of the skin	7507	XPA	OMIM:278700
HP:0000953	Hyperpigmentation of the skin	7507	XPA	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	1161	ERCC8	ORPHA:90321
HP:0000953	Hyperpigmentation of the skin	1161	ERCC8	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	2072	ERCC4	ORPHA:90321
HP:0000953	Hyperpigmentation of the skin	2072	ERCC4	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	ORPHA:90321
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	OMIM:278800
HP:0000953	Hyperpigmentation of the skin	2776	GNAQ	ORPHA:624
HP:0000953	Hyperpigmentation of the skin	2067	ERCC1	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	4000	LMNA	ORPHA:740
HP:0000953	Hyperpigmentation of the skin	10269	ZMPSTE24	ORPHA:740
HP:0000953	Hyperpigmentation of the skin	50485	SMARCAL1	ORPHA:1830
HP:0000953	Hyperpigmentation of the skin	50485	SMARCAL1	OMIM:242900
HP:0000953	Hyperpigmentation of the skin	10058	ABCB6	OMIM:615402
HP:0000953	Hyperpigmentation of the skin	10058	ABCB6	ORPHA:241
HP:0000953	Hyperpigmentation of the skin	488	ATP2A2	ORPHA:218
HP:0000953	Hyperpigmentation of the skin	488	ATP2A2	OMIM:124200
HP:0000953	Hyperpigmentation of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0000953	Hyperpigmentation of the skin	2778	GNAS	ORPHA:2762
HP:0000953	Hyperpigmentation of the skin	1536	CYBB	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	4688	NCF2	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	1535	CYBA	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	4689	NCF4	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	653361	NCF1	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	79415	CYBC1	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	8869	ST3GAL5	OMIM:609056
HP:0000953	Hyperpigmentation of the skin	54	ACP5	OMIM:607944
HP:0000953	Hyperpigmentation of the skin	716	C1S	ORPHA:75392
HP:0000953	Hyperpigmentation of the skin	715	C1R	ORPHA:75392
HP:0000953	Hyperpigmentation of the skin	3643	INSR	OMIM:246200
HP:0000953	Hyperpigmentation of the skin	1663	DDX11	OMIM:613398
HP:0000953	Hyperpigmentation of the skin	6794	STK11	OMIM:175200
HP:0000953	Hyperpigmentation of the skin	5339	PLEC	ORPHA:79401
HP:0000953	Hyperpigmentation of the skin	4313	MMP2	OMIM:259600
HP:0000953	Hyperpigmentation of the skin	23328	SASH1	OMIM:618373
HP:0000953	Hyperpigmentation of the skin	80169	CTC1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	26277	TINF2	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	55651	NHP2	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	79650	USB1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	55135	WRAP53	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	51750	RTEL1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	4869	NPM1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	7012	TERC	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	55505	NOP10	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	5073	PARN	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	7015	TERT	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	1736	DKC1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	7298	TYMS	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	10457	GPNMB	OMIM:617920
HP:0000953	Hyperpigmentation of the skin	2697	GJA1	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	2707	GJB3	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	2531	KDSR	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	127534	GJB4	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	3861	KRT14	ORPHA:79397
HP:0000953	Hyperpigmentation of the skin	3861	KRT14	ORPHA:79399
HP:0000953	Hyperpigmentation of the skin	4763	NF1	ORPHA:97685
HP:0000953	Hyperpigmentation of the skin	2068	ERCC2	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	2071	ERCC3	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	7508	XPC	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	1643	DDB2	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	2073	ERCC5	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	10484	SEC23A	OMIM:607812
HP:0000953	Hyperpigmentation of the skin	1130	LYST	ORPHA:167
HP:0000953	Hyperpigmentation of the skin	79644	SRD5A3	ORPHA:324737
HP:0000953	Hyperpigmentation of the skin	5566	PRKACA	ORPHA:189439
HP:0000953	Hyperpigmentation of the skin	8622	PDE8B	ORPHA:189439
HP:0000953	Hyperpigmentation of the skin	8815	BANF1	OMIM:614008
HP:0000953	Hyperpigmentation of the skin	55612	FERMT1	OMIM:173650
HP:0000953	Hyperpigmentation of the skin	9419	CRIPT	OMIM:615789
HP:0000953	Hyperpigmentation of the skin	1027	CDKN1B	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1026	CDKN1A	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1030	CDKN2B	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1031	CDKN2C	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	57167	SALL4	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	9935	MAFB	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	1123	CHN1	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	1493	CTLA4	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	1493	CTLA4	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	940	CD28	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	940	CD28	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	7133	TNFRSF1B	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	4854	NOTCH3	ORPHA:2591
HP:0000953	Hyperpigmentation of the skin	5159	PDGFRB	ORPHA:2591
HP:0000953	Hyperpigmentation of the skin	6389	SDHA	ORPHA:44890
HP:0000953	Hyperpigmentation of the skin	5156	PDGFRA	ORPHA:44890
HP:0000953	Hyperpigmentation of the skin	340024	SLC6A19	ORPHA:2116
HP:0000953	Hyperpigmentation of the skin	57393	CLTRN	ORPHA:2116
HP:0000953	Hyperpigmentation of the skin	2767	GNA11	ORPHA:428
HP:0000953	Hyperpigmentation of the skin	846	CASR	ORPHA:428
HP:0000953	Hyperpigmentation of the skin	672	BRCA1	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	10459	MAD2L2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	7516	XRCC2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	29089	UBE2T	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2187	FANCB	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2189	FANCG	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	5888	RAD51	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	5889	RAD51C	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	55159	RFWD3	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	83990	BRIP1	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	57697	FANCM	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	1776	DNASE1L3	ORPHA:36412
HP:0000953	Hyperpigmentation of the skin	79092	CARD14	ORPHA:2897
HP:0000953	Hyperpigmentation of the skin	3081	HGD	ORPHA:56
HP:0000953	Hyperpigmentation of the skin	8517	IKBKG	ORPHA:464
HP:0000953	Hyperpigmentation of the skin	1294	COL7A1	ORPHA:89842
HP:0000953	Hyperpigmentation of the skin	203068	TUBB	ORPHA:2505
HP:0000953	Hyperpigmentation of the skin	10982	MAPRE2	ORPHA:2505
HP:0000953	Hyperpigmentation of the skin	3930	LBR	ORPHA:779
HP:0000953	Hyperpigmentation of the skin	1281	COL3A1	ORPHA:2500
HP:0000953	Hyperpigmentation of the skin	11005	SPINK5	ORPHA:634
HP:0000953	Hyperpigmentation of the skin	1308	COL17A1	OMIM:619787
HP:0000953	Hyperpigmentation of the skin	2783	GNB2	OMIM:619503
HP:0000953	Hyperpigmentation of the skin	6418	SET	OMIM:618106
HP:0000953	Hyperpigmentation of the skin	5932	RBBP8	OMIM:606744
HP:0000953	Hyperpigmentation of the skin	4158	MC2R	OMIM:202200
HP:0000953	Hyperpigmentation of the skin	4158	MC2R	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	30061	SLC40A1	ORPHA:139491
HP:0000953	Hyperpigmentation of the skin	1583	CYP11A1	ORPHA:168558
HP:0000953	Hyperpigmentation of the skin	1583	CYP11A1	ORPHA:289548
HP:0000953	Hyperpigmentation of the skin	3845	KRAS	ORPHA:1340
HP:0000953	Hyperpigmentation of the skin	3845	KRAS	ORPHA:3339
HP:0000953	Hyperpigmentation of the skin	5080	PAX6	ORPHA:2253
HP:0000953	Hyperpigmentation of the skin	65057	ACD	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	29926	GMPPA	ORPHA:869
HP:0000953	Hyperpigmentation of the skin	60684	TRAPPC11	ORPHA:869
HP:0000953	Hyperpigmentation of the skin	8086	AAAS	ORPHA:869
HP:0000953	Hyperpigmentation of the skin	83550	GPR101	ORPHA:963
HP:0000953	Hyperpigmentation of the skin	9049	AIP	ORPHA:963
HP:0000953	Hyperpigmentation of the skin	5728	PTEN	ORPHA:744
HP:0000953	Hyperpigmentation of the skin	207	AKT1	ORPHA:744
HP:0000953	Hyperpigmentation of the skin	3265	HRAS	ORPHA:3071
HP:0000953	Hyperpigmentation of the skin	56246	MRAP	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	6770	STAR	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	23530	NNT	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	10587	TXNRD2	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	4644	MYO5A	ORPHA:33445
HP:0000953	Hyperpigmentation of the skin	224	ALDH3A2	ORPHA:816
HP:0000953	Hyperpigmentation of the skin	57817	HAMP	ORPHA:79230
HP:0000953	Hyperpigmentation of the skin	148738	HJV	ORPHA:79230
HP:0000953	Hyperpigmentation of the skin	526	ATP6V1B2	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3756	KCNH1	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3782	KCNN3	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3662	IRF4	ORPHA:3452
HP:0000953	Hyperpigmentation of the skin	23556	PIGN	ORPHA:280633
HP:0000953	Hyperpigmentation of the skin	103	ADAR	OMIM:127400
HP:0000953	Hyperpigmentation of the skin	6611	SMS	ORPHA:3063
HP:0000953	Hyperpigmentation of the skin	7319	UBE2A	ORPHA:163956
HP:0000953	Hyperpigmentation of the skin	2260	FGFR1	OMIM:613001
HP:0000953	Hyperpigmentation of the skin	4436	MSH2	OMIM:619096
HP:0000953	Hyperpigmentation of the skin	2956	MSH6	OMIM:619097
HP:0000953	Hyperpigmentation of the skin	5980	REV3L	ORPHA:570
HP:0000953	Hyperpigmentation of the skin	23129	PLXND1	ORPHA:570
HP:0000953	Hyperpigmentation of the skin	11253	MAN1B1	ORPHA:397941
HP:0000953	Hyperpigmentation of the skin	8242	KDM5C	ORPHA:85279
HP:0000953	Hyperpigmentation of the skin	11322	TMC6	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	3574	IL7	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	147138	TMC8	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	10519	CIB1	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	4292	MLH1	OMIM:276300
HP:0000953	Hyperpigmentation of the skin	10483	SEC23B	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	205717	USF3	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	100144748	KLLN	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	117581	TWIST2	ORPHA:1807
HP:0000953	Hyperpigmentation of the skin	9184	BUB3	ORPHA:1052
HP:0000953	Hyperpigmentation of the skin	9319	TRIP13	ORPHA:1052
HP:0000953	Hyperpigmentation of the skin	701	BUB1B	ORPHA:1052
HP:0000953	Hyperpigmentation of the skin	5395	PMS2	OMIM:619101
HP:0000953	Hyperpigmentation of the skin	473	RERE	OMIM:616975
HP:0000953	Hyperpigmentation of the skin	5573	PRKAR1A	ORPHA:1359
HP:0000953	Hyperpigmentation of the skin	50940	PDE11A	ORPHA:1359
HP:0000953	Hyperpigmentation of the skin	151188	ARL6IP6	ORPHA:1556
HP:0000953	Hyperpigmentation of the skin	64840	PORCN	OMIM:305600
HP:0000953	Hyperpigmentation of the skin	6117	RPA1	OMIM:619767
HP:0000953	Hyperpigmentation of the skin	5422	POLA1	OMIM:301220
HP:0000953	Hyperpigmentation of the skin	4948	OCA2	OMIM:203200
HP:0000953	Hyperpigmentation of the skin	4157	MC1R	OMIM:203200
HP:0000953	Hyperpigmentation of the skin	3257	HPS1	OMIM:203300
HP:0000953	Hyperpigmentation of the skin	374969	SVBP	OMIM:618569
HP:0000954	Single transverse palmar crease	23394	ADNP	ORPHA:404448
HP:0000954	Single transverse palmar crease	324	APC	ORPHA:261584
HP:0000954	Single transverse palmar crease	340533	NEXMIF	OMIM:300912
HP:0000954	Single transverse palmar crease	8294	H4C9	OMIM:619951
HP:0000954	Single transverse palmar crease	83932	SPRTN	OMIM:616200
HP:0000954	Single transverse palmar crease	8425	LTBP4	OMIM:613177
HP:0000954	Single transverse palmar crease	51126	NAA20	OMIM:619717
HP:0000954	Single transverse palmar crease	2972	BRF1	OMIM:616202
HP:0000954	Single transverse palmar crease	2972	BRF1	ORPHA:444072
HP:0000954	Single transverse palmar crease	6228	RPS23	OMIM:617412
HP:0000954	Single transverse palmar crease	5885	RAD21	OMIM:614701
HP:0000954	Single transverse palmar crease	55627	SMPD4	OMIM:618622
HP:0000954	Single transverse palmar crease	81857	MED25	OMIM:616449
HP:0000954	Single transverse palmar crease	81857	MED25	ORPHA:464738
HP:0000954	Single transverse palmar crease	123263	MTFMT	OMIM:614947
HP:0000954	Single transverse palmar crease	10274	STAG1	ORPHA:502434
HP:0000954	Single transverse palmar crease	56916	SMARCAD1	OMIM:129200
HP:0000954	Single transverse palmar crease	5830	PEX5	OMIM:214110
HP:0000954	Single transverse palmar crease	197131	UBR1	OMIM:243800
HP:0000954	Single transverse palmar crease	9578	CDC42BPB	OMIM:619841
HP:0000954	Single transverse palmar crease	3020	H3-3A	OMIM:619720
HP:0000954	Single transverse palmar crease	10300	KATNB1	OMIM:616212
HP:0000954	Single transverse palmar crease	89910	UBE3B	OMIM:244450
HP:0000954	Single transverse palmar crease	51506	UFC1	OMIM:618076
HP:0000954	Single transverse palmar crease	55790	CSGALNACT1	OMIM:618870
HP:0000954	Single transverse palmar crease	4010	LMX1B	ORPHA:495818
HP:0000954	Single transverse palmar crease	6812	STXBP1	ORPHA:495818
HP:0000954	Single transverse palmar crease	2137	EXTL3	OMIM:617425
HP:0000954	Single transverse palmar crease	22858	CILK1	OMIM:612651
HP:0000954	Single transverse palmar crease	9382	COG1	OMIM:611209
HP:0000954	Single transverse palmar crease	5189	PEX1	OMIM:214100
HP:0000954	Single transverse palmar crease	6197	RPS6KA3	OMIM:303600
HP:0000954	Single transverse palmar crease	84987	COX14	OMIM:619053
HP:0000954	Single transverse palmar crease	57492	ARID1B	OMIM:135900
HP:0000954	Single transverse palmar crease	54453	RIN2	OMIM:613075
HP:0000954	Single transverse palmar crease	3899	AFF3	OMIM:619297
HP:0000954	Single transverse palmar crease	50814	NSDHL	OMIM:308050
HP:0000954	Single transverse palmar crease	9968	MED12	ORPHA:93932
HP:0000954	Single transverse palmar crease	9968	MED12	OMIM:305450
HP:0000954	Single transverse palmar crease	92579	G6PC3	OMIM:612541
HP:0000954	Single transverse palmar crease	114034	TOE1	OMIM:614969
HP:0000954	Single transverse palmar crease	157680	VPS13B	OMIM:216550
HP:0000954	Single transverse palmar crease	7020	TFAP2A	OMIM:113620
HP:0000954	Single transverse palmar crease	9896	FIG4	ORPHA:3472
HP:0000954	Single transverse palmar crease	9896	FIG4	OMIM:216340
HP:0000954	Single transverse palmar crease	55697	VAC14	ORPHA:3472
HP:0000954	Single transverse palmar crease	652	BMP4	OMIM:607932
HP:0000954	Single transverse palmar crease	5442	POLRMT	OMIM:619743
HP:0000954	Single transverse palmar crease	132158	GLYCTK	OMIM:220120
HP:0000954	Single transverse palmar crease	23036	ZNF292	OMIM:619188
HP:0000954	Single transverse palmar crease	55148	UBR7	OMIM:619189
HP:0000954	Single transverse palmar crease	4591	TRIM37	OMIM:253250
HP:0000954	Single transverse palmar crease	79813	EHMT1	OMIM:610253
HP:0000954	Single transverse palmar crease	55012	PPP2R3C	OMIM:618419
HP:0000954	Single transverse palmar crease	1954	MEGF8	OMIM:614976
HP:0000954	Single transverse palmar crease	2783	GNB2	OMIM:619503
HP:0000954	Single transverse palmar crease	53834	FGFRL1	OMIM:194190
HP:0000954	Single transverse palmar crease	1487	CTBP1	OMIM:194190
HP:0000954	Single transverse palmar crease	3954	LETM1	OMIM:194190
HP:0000954	Single transverse palmar crease	7468	NSD2	OMIM:194190
HP:0000954	Single transverse palmar crease	10815	CPLX1	OMIM:194190
HP:0000954	Single transverse palmar crease	26040	SETBP1	OMIM:269150
HP:0000954	Single transverse palmar crease	727857	BHLHA9	OMIM:609432
HP:0000954	Single transverse palmar crease	8241	RBM10	OMIM:311900
HP:0000954	Single transverse palmar crease	8241	RBM10	ORPHA:2886
HP:0000954	Single transverse palmar crease	1802	DPH2	OMIM:620062
HP:0000954	Single transverse palmar crease	11285	B4GALT7	OMIM:130070
HP:0000954	Single transverse palmar crease	1186	CLCN7	OMIM:618541
HP:0000954	Single transverse palmar crease	55768	NGLY1	OMIM:615273
HP:0000954	Single transverse palmar crease	1349	COX7B	OMIM:309801
HP:0000954	Single transverse palmar crease	3052	HCCS	OMIM:309801
HP:0000954	Single transverse palmar crease	54539	NDUFB11	OMIM:309801
HP:0000954	Single transverse palmar crease	63895	PIEZO2	OMIM:114300
HP:0000954	Single transverse palmar crease	5190	PEX6	OMIM:614863
HP:0000954	Single transverse palmar crease	5828	PEX2	OMIM:614866
HP:0000954	Single transverse palmar crease	150468	CKAP2L	OMIM:272440
HP:0000954	Single transverse palmar crease	6134	RPL10	ORPHA:459070
HP:0000954	Single transverse palmar crease	6134	RPL10	OMIM:300998
HP:0000954	Single transverse palmar crease	6134	RPL10	ORPHA:435938
HP:0000954	Single transverse palmar crease	55165	CEP55	OMIM:236500
HP:0000954	Single transverse palmar crease	8085	KMT2D	OMIM:620186
HP:0000954	Single transverse palmar crease	23137	SMC5	OMIM:620185
HP:0000954	Single transverse palmar crease	7750	ZMYM2	OMIM:619522
HP:0000954	Single transverse palmar crease	27086	FOXP1	ORPHA:391372
HP:0000954	Single transverse palmar crease	388015	RTL1	ORPHA:96334
HP:0000954	Single transverse palmar crease	388015	RTL1	ORPHA:254528
HP:0000954	Single transverse palmar crease	8788	DLK1	ORPHA:96334
HP:0000954	Single transverse palmar crease	8788	DLK1	ORPHA:254528
HP:0000954	Single transverse palmar crease	55384	MEG3	ORPHA:96334
HP:0000954	Single transverse palmar crease	55384	MEG3	ORPHA:254528
HP:0000954	Single transverse palmar crease	6925	TCF4	OMIM:610954
HP:0000954	Single transverse palmar crease	6925	TCF4	ORPHA:2896
HP:0000954	Single transverse palmar crease	10430	TMEM147	OMIM:620075
HP:0000954	Single transverse palmar crease	23483	TGDS	OMIM:616145
HP:0000954	Single transverse palmar crease	6611	SMS	OMIM:309583
HP:0000954	Single transverse palmar crease	25836	NIPBL	OMIM:122470
HP:0000954	Single transverse palmar crease	23219	FBXO28	OMIM:619777
HP:0000954	Single transverse palmar crease	2146	EZH2	OMIM:277590
HP:0000954	Single transverse palmar crease	2316	FLNA	ORPHA:1826
HP:0000954	Single transverse palmar crease	6885	MAP3K7	ORPHA:1826
HP:0000954	Single transverse palmar crease	51322	WAC	ORPHA:466950
HP:0000954	Single transverse palmar crease	6595	SMARCA2	OMIM:601358
HP:0000954	Single transverse palmar crease	29123	ANKRD11	OMIM:148050
HP:0000954	Single transverse palmar crease	29123	ANKRD11	ORPHA:2332
HP:0000954	Single transverse palmar crease	2702	GJA5	OMIM:612474
HP:0000954	Single transverse palmar crease	2703	GJA8	OMIM:612474
HP:0000954	Single transverse palmar crease	4208	MEF2C	OMIM:613443
HP:0000954	Single transverse palmar crease	55690	PACS1	ORPHA:329224
HP:0000954	Single transverse palmar crease	6878	TAF6	OMIM:617126
HP:0000954	Single transverse palmar crease	22907	DHX30	OMIM:617804
HP:0000954	Single transverse palmar crease	2245	FGD1	ORPHA:915
HP:0000954	Single transverse palmar crease	2245	FGD1	OMIM:305400
HP:0000954	Single transverse palmar crease	10664	CTCF	OMIM:615502
HP:0000954	Single transverse palmar crease	10664	CTCF	ORPHA:363611
HP:0000954	Single transverse palmar crease	81603	TRIM8	OMIM:619428
HP:0000954	Single transverse palmar crease	9230	RAB11B	OMIM:617807
HP:0000954	Single transverse palmar crease	55081	IFT57	OMIM:617927
HP:0000954	Single transverse palmar crease	3720	JARID2	OMIM:620098
HP:0000954	Single transverse palmar crease	3479	IGF1	ORPHA:73272
HP:0000954	Single transverse palmar crease	5193	PEX12	OMIM:266510
HP:0000954	Single transverse palmar crease	100151683	RNU4ATAC	OMIM:210710
HP:0000954	Single transverse palmar crease	100151683	RNU4ATAC	OMIM:616651
HP:0000954	Single transverse palmar crease	1798	DPAGT1	OMIM:608093
HP:0000954	Single transverse palmar crease	57122	NUP107	OMIM:618348
HP:0000954	Single transverse palmar crease	6418	SET	OMIM:618106
HP:0000954	Single transverse palmar crease	5515	PPP2CA	OMIM:618354
HP:0000954	Single transverse palmar crease	2623	GATA1	OMIM:190685
HP:0000954	Single transverse palmar crease	23030	KDM4B	OMIM:619320
HP:0000954	Single transverse palmar crease	2902	GRIN1	OMIM:617820
HP:0000954	Single transverse palmar crease	55784	MCTP2	ORPHA:1596
HP:0000954	Single transverse palmar crease	23097	CDK19	OMIM:618916
HP:0000954	Single transverse palmar crease	9126	SMC3	OMIM:610759
HP:0000954	Single transverse palmar crease	4131	MAP1B	OMIM:618918
HP:0000954	Single transverse palmar crease	5530	PPP3CA	OMIM:617711
HP:0000954	Single transverse palmar crease	80746	TSEN2	OMIM:612389
HP:0000954	Single transverse palmar crease	64131	XYLT1	OMIM:615777
HP:0000954	Single transverse palmar crease	9361	LONP1	ORPHA:79243
HP:0000954	Single transverse palmar crease	5160	PDHA1	ORPHA:79243
HP:0000954	Single transverse palmar crease	55764	IFT122	OMIM:218330
HP:0000954	Single transverse palmar crease	8604	SLC25A12	OMIM:612949
HP:0000954	Single transverse palmar crease	9241	NOG	OMIM:186500
HP:0000954	Single transverse palmar crease	22827	PUF60	ORPHA:508488
HP:0000954	Single transverse palmar crease	10943	MSL3	OMIM:301032
HP:0000954	Single transverse palmar crease	3977	LIFR	OMIM:601559
HP:0000954	Single transverse palmar crease	545	ATR	OMIM:210600
HP:0000954	Single transverse palmar crease	57187	THOC2	ORPHA:457240
HP:0000954	Single transverse palmar crease	57572	DOCK6	OMIM:614219
HP:0000954	Single transverse palmar crease	94005	PIGS	OMIM:618143
HP:0000954	Single transverse palmar crease	145173	B3GLCT	OMIM:261540
HP:0000954	Single transverse palmar crease	6711	SPTBN1	OMIM:619475
HP:0000954	Single transverse palmar crease	1387	CREBBP	OMIM:180849
HP:0000954	Single transverse palmar crease	2033	EP300	OMIM:180849
HP:0000954	Single transverse palmar crease	6938	TCF12	OMIM:615314
HP:0000954	Single transverse palmar crease	92002	CCNQ	OMIM:300707
HP:0000954	Single transverse palmar crease	91461	PKDCC	OMIM:618821
HP:0000954	Single transverse palmar crease	4329	ALDH6A1	OMIM:614105
HP:0000954	Single transverse palmar crease	1457	CSNK2A1	OMIM:617062
HP:0000954	Single transverse palmar crease	7204	TRIO	OMIM:617061
HP:0000954	Single transverse palmar crease	55617	TASP1	OMIM:618950
HP:0000954	Single transverse palmar crease	51305	KCNK9	OMIM:612292
HP:0000954	Single transverse palmar crease	83737	ITCH	OMIM:613385
HP:0000954	Single transverse palmar crease	112752	IFT43	OMIM:617866
HP:0000954	Single transverse palmar crease	9702	CEP57	OMIM:614114
HP:0000954	Single transverse palmar crease	9373	PLAA	ORPHA:521426
HP:0000954	Single transverse palmar crease	9373	PLAA	OMIM:617527
HP:0000954	Single transverse palmar crease	64093	SMOC1	OMIM:206920
HP:0000954	Single transverse palmar crease	7169	TPM2	OMIM:108120
HP:0000954	Single transverse palmar crease	403	ARL3	OMIM:618161
HP:0000954	Single transverse palmar crease	8200	GDF5	OMIM:201250
HP:0000954	Single transverse palmar crease	1748	DLX4	OMIM:616788
HP:0000954	Single transverse palmar crease	1663	DDX11	OMIM:613398
HP:0000954	Single transverse palmar crease	2733	GLE1	OMIM:611890
HP:0000954	Single transverse palmar crease	738	VPS51	OMIM:618606
HP:0000954	Single transverse palmar crease	51594	NBAS	OMIM:614800
HP:0000954	Single transverse palmar crease	23299	BICD2	OMIM:618291
HP:0000954	Single transverse palmar crease	58499	ZNF462	OMIM:618619
HP:0000954	Single transverse palmar crease	7291	TWIST1	ORPHA:794
HP:0000954	Single transverse palmar crease	2263	FGFR2	ORPHA:794
HP:0000954	Single transverse palmar crease	2261	FGFR3	ORPHA:794
HP:0000954	Single transverse palmar crease	23476	BRD4	ORPHA:199
HP:0000954	Single transverse palmar crease	8243	SMC1A	ORPHA:199
HP:0000954	Single transverse palmar crease	55869	HDAC8	ORPHA:199
HP:0000954	Single transverse palmar crease	5792	PTPRF	OMIM:616001
HP:0000954	Single transverse palmar crease	10908	PNPLA6	ORPHA:2377
HP:0000954	Single transverse palmar crease	9894	TELO2	ORPHA:488642
HP:0000954	Single transverse palmar crease	9759	HDAC4	ORPHA:1001
HP:0000954	Single transverse palmar crease	157570	ESCO2	ORPHA:3103
HP:0000954	Single transverse palmar crease	5184	PEPD	ORPHA:742
HP:0000954	Single transverse palmar crease	2131	EXT1	ORPHA:502
HP:0000954	Single transverse palmar crease	7227	TRPS1	ORPHA:502
HP:0000954	Single transverse palmar crease	283989	TSEN54	ORPHA:2524
HP:0000954	Single transverse palmar crease	116461	TSEN15	ORPHA:2524
HP:0000954	Single transverse palmar crease	79042	TSEN34	ORPHA:2524
HP:0000954	Single transverse palmar crease	51091	SEPSECS	ORPHA:2524
HP:0000954	Single transverse palmar crease	129563	DIS3L2	ORPHA:2849
HP:0000954	Single transverse palmar crease	5818	NECTIN1	ORPHA:3253
HP:0000954	Single transverse palmar crease	55670	PEX26	ORPHA:44
HP:0000954	Single transverse palmar crease	5824	PEX19	ORPHA:44
HP:0000954	Single transverse palmar crease	8504	PEX3	ORPHA:44
HP:0000954	Single transverse palmar crease	9409	PEX16	ORPHA:44
HP:0000954	Single transverse palmar crease	8799	PEX11B	ORPHA:44
HP:0000954	Single transverse palmar crease	5194	PEX13	ORPHA:44
HP:0000954	Single transverse palmar crease	5195	PEX14	ORPHA:44
HP:0000954	Single transverse palmar crease	5192	PEX10	ORPHA:44
HP:0000954	Single transverse palmar crease	9469	CHST3	OMIM:143095
HP:0000954	Single transverse palmar crease	7140	TNNT3	ORPHA:1147
HP:0000954	Single transverse palmar crease	4621	MYH3	ORPHA:1147
HP:0000954	Single transverse palmar crease	259232	NALCN	ORPHA:1147
HP:0000954	Single transverse palmar crease	7136	TNNI2	ORPHA:1147
HP:0000954	Single transverse palmar crease	23511	NUP188	OMIM:618804
HP:0000954	Single transverse palmar crease	658	BMPR1B	ORPHA:2639
HP:0000954	Single transverse palmar crease	4087	SMAD2	OMIM:619657
HP:0000954	Single transverse palmar crease	64359	NXN	ORPHA:1507
HP:0000954	Single transverse palmar crease	4920	ROR2	ORPHA:1507
HP:0000954	Single transverse palmar crease	10225	CD96	ORPHA:1308
HP:0000954	Single transverse palmar crease	23522	KAT6B	ORPHA:3047
HP:0000954	Single transverse palmar crease	147372	CCBE1	OMIM:235510
HP:0000954	Single transverse palmar crease	9496	TBX4	ORPHA:261279
HP:0000954	Single transverse palmar crease	1801	DPH1	ORPHA:459061
HP:0000954	Single transverse palmar crease	2254	FGF9	ORPHA:3237
HP:0008064	Ichthyosis	50814	NSDHL	OMIM:308050
HP:0008064	Ichthyosis	10804	GJB6	ORPHA:477
HP:0008064	Ichthyosis	3868	KRT16	OMIM:613000
HP:0008064	Ichthyosis	51099	ABHD5	ORPHA:98907
HP:0008064	Ichthyosis	51099	ABHD5	OMIM:275630
HP:0008064	Ichthyosis	2531	KDSR	OMIM:617526
HP:0008064	Ichthyosis	4014	LORICRIN	ORPHA:79395
HP:0008064	Ichthyosis	3857	KRT9	OMIM:144200
HP:0008064	Ichthyosis	10682	EBP	ORPHA:401973
HP:0008064	Ichthyosis	10682	EBP	ORPHA:35173
HP:0008064	Ichthyosis	10682	EBP	OMIM:300960
HP:0008064	Ichthyosis	7051	TGM1	OMIM:242300
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:281122
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:100976
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:313
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:79394
HP:0008064	Ichthyosis	3858	KRT10	ORPHA:312
HP:0008064	Ichthyosis	3858	KRT10	OMIM:607602
HP:0008064	Ichthyosis	3858	KRT10	OMIM:609165
HP:0008064	Ichthyosis	3848	KRT1	ORPHA:312
HP:0008064	Ichthyosis	3848	KRT1	OMIM:620148
HP:0008064	Ichthyosis	3848	KRT1	ORPHA:79503
HP:0008064	Ichthyosis	8036	SHOC2	OMIM:607721
HP:0008064	Ichthyosis	673	BRAF	OMIM:115150
HP:0008064	Ichthyosis	673	BRAF	ORPHA:1340
HP:0008064	Ichthyosis	6768	ST14	ORPHA:91132
HP:0008064	Ichthyosis	22845	DOLK	ORPHA:91131
HP:0008064	Ichthyosis	22845	DOLK	OMIM:610768
HP:0008064	Ichthyosis	4047	LSS	ORPHA:2850
HP:0008064	Ichthyosis	4047	LSS	OMIM:618840
HP:0008064	Ichthyosis	197	AHSG	ORPHA:2850
HP:0008064	Ichthyosis	3694	ITGB6	ORPHA:2850
HP:0008064	Ichthyosis	2629	GBA1	OMIM:608013
HP:0008064	Ichthyosis	2629	GBA1	ORPHA:85212
HP:0008064	Ichthyosis	1120	CHKB	OMIM:602541
HP:0008064	Ichthyosis	2706	GJB2	OMIM:602540
HP:0008064	Ichthyosis	2706	GJB2	ORPHA:494
HP:0008064	Ichthyosis	2706	GJB2	OMIM:148210
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:281122
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:313
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:79394
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:281122
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:313
HP:0008064	Ichthyosis	59344	ALOXE3	OMIM:606545
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:79394
HP:0008064	Ichthyosis	57104	PNPLA2	ORPHA:565612
HP:0008064	Ichthyosis	57104	PNPLA2	OMIM:610717
HP:0008064	Ichthyosis	57104	PNPLA2	ORPHA:98908
HP:0008064	Ichthyosis	162	AP1B1	OMIM:242150
HP:0008064	Ichthyosis	162	AP1B1	ORPHA:171851
HP:0008064	Ichthyosis	5191	PEX7	OMIM:266500
HP:0008064	Ichthyosis	5191	PEX7	OMIM:215100
HP:0008064	Ichthyosis	5191	PEX7	OMIM:614879
HP:0008064	Ichthyosis	5191	PEX7	ORPHA:773
HP:0008064	Ichthyosis	5264	PHYH	OMIM:266500
HP:0008064	Ichthyosis	5264	PHYH	ORPHA:773
HP:0008064	Ichthyosis	9342	SNAP29	ORPHA:66631
HP:0008064	Ichthyosis	9342	SNAP29	OMIM:609528
HP:0008064	Ichthyosis	79644	SRD5A3	OMIM:612379
HP:0008064	Ichthyosis	79644	SRD5A3	ORPHA:324737
HP:0008064	Ichthyosis	224	ALDH3A2	ORPHA:816
HP:0008064	Ichthyosis	224	ALDH3A2	OMIM:270200
HP:0008064	Ichthyosis	128486	FITM2	OMIM:618635
HP:0008064	Ichthyosis	9076	CLDN1	ORPHA:59303
HP:0008064	Ichthyosis	9076	CLDN1	OMIM:607626
HP:0008064	Ichthyosis	1287	COL4A5	OMIM:301050
HP:0008064	Ichthyosis	9837	GINS1	OMIM:617827
HP:0008064	Ichthyosis	134218	DNAJC21	ORPHA:811
HP:0008064	Ichthyosis	79631	EFL1	ORPHA:811
HP:0008064	Ichthyosis	51119	SBDS	ORPHA:811
HP:0008064	Ichthyosis	6729	SRP54	ORPHA:811
HP:0008064	Ichthyosis	3849	KRT2	ORPHA:455
HP:0008064	Ichthyosis	114548	NLRP3	ORPHA:575
HP:0008064	Ichthyosis	164656	TMPRSS6	ORPHA:209981
HP:0008064	Ichthyosis	284058	KANSL1	ORPHA:363958
HP:0008064	Ichthyosis	284058	KANSL1	ORPHA:363965
HP:0008064	Ichthyosis	54453	RIN2	OMIM:613075
HP:0008064	Ichthyosis	4141	MARS1	OMIM:619692
HP:0008064	Ichthyosis	10999	SLC27A4	ORPHA:88621
HP:0008064	Ichthyosis	64834	ELOVL1	OMIM:618527
HP:0008064	Ichthyosis	412	STS	ORPHA:281090
HP:0008064	Ichthyosis	412	STS	OMIM:308100
HP:0008064	Ichthyosis	412	STS	ORPHA:461
HP:0008064	Ichthyosis	5604	MAP2K1	ORPHA:1340
HP:0008064	Ichthyosis	5605	MAP2K2	ORPHA:1340
HP:0008064	Ichthyosis	3845	KRAS	ORPHA:1340
HP:0008064	Ichthyosis	3845	KRAS	OMIM:163200
HP:0008064	Ichthyosis	1475	CSTA	OMIM:607936
HP:0008064	Ichthyosis	1475	CSTA	ORPHA:263534
HP:0008064	Ichthyosis	51371	POMP	OMIM:601952
HP:0008064	Ichthyosis	51371	POMP	ORPHA:281201
HP:0008064	Ichthyosis	29968	PSAT1	ORPHA:284417
HP:0008064	Ichthyosis	29968	PSAT1	OMIM:616038
HP:0008064	Ichthyosis	26276	VPS33B	OMIM:208085
HP:0008064	Ichthyosis	26276	VPS33B	OMIM:620009
HP:0008064	Ichthyosis	5277	PIGA	OMIM:300868
HP:0008064	Ichthyosis	5277	PIGA	OMIM:301072
HP:0008064	Ichthyosis	146206	CARMIL2	OMIM:618131
HP:0008064	Ichthyosis	3560	IL2RB	OMIM:618495
HP:0008064	Ichthyosis	2783	GNB2	OMIM:619503
HP:0008064	Ichthyosis	63894	VIPAS39	OMIM:613404
HP:0008064	Ichthyosis	1832	DSP	OMIM:615821
HP:0008064	Ichthyosis	6785	ELOVL4	OMIM:614457
HP:0008064	Ichthyosis	9487	PIGL	ORPHA:3474
HP:0008064	Ichthyosis	9487	PIGL	OMIM:280000
HP:0008064	Ichthyosis	1174	AP1S1	OMIM:609313
HP:0008064	Ichthyosis	1174	AP1S1	ORPHA:171851
HP:0008064	Ichthyosis	151516	ASPRV1	ORPHA:313
HP:0008064	Ichthyosis	126410	CYP4F22	ORPHA:313
HP:0008064	Ichthyosis	6820	SULT2B1	ORPHA:313
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:313
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:457
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:79394
HP:0008064	Ichthyosis	643418	LIPN	ORPHA:313
HP:0008064	Ichthyosis	643418	LIPN	OMIM:613943
HP:0008064	Ichthyosis	348938	NIPAL4	ORPHA:313
HP:0008064	Ichthyosis	348938	NIPAL4	ORPHA:79394
HP:0008064	Ichthyosis	121214	SDR9C7	ORPHA:313
HP:0008064	Ichthyosis	121214	SDR9C7	OMIM:617574
HP:0008064	Ichthyosis	26227	PHGDH	OMIM:256520
HP:0008064	Ichthyosis	8879	SGPL1	OMIM:617575
HP:0008064	Ichthyosis	91754	NEK9	ORPHA:64754
HP:0008064	Ichthyosis	6897	TARS1	OMIM:618546
HP:0008064	Ichthyosis	6897	TARS1	ORPHA:33364
HP:0008064	Ichthyosis	5189	PEX1	ORPHA:3220
HP:0008064	Ichthyosis	5189	PEX1	ORPHA:772
HP:0008064	Ichthyosis	5190	PEX6	ORPHA:3220
HP:0008064	Ichthyosis	5190	PEX6	ORPHA:772
HP:0008064	Ichthyosis	4893	NRAS	OMIM:163200
HP:0008064	Ichthyosis	3265	HRAS	OMIM:163200
HP:0008064	Ichthyosis	2312	FLG	OMIM:146700
HP:0008064	Ichthyosis	2312	FLG	ORPHA:461
HP:0008064	Ichthyosis	285362	SUMF1	OMIM:272200
HP:0008064	Ichthyosis	285362	SUMF1	ORPHA:585
HP:0008064	Ichthyosis	10283	CWC27	ORPHA:166035
HP:0008064	Ichthyosis	79092	CARD14	ORPHA:2897
HP:0008064	Ichthyosis	57152	SLURP1	ORPHA:87503
HP:0008064	Ichthyosis	57152	SLURP1	OMIM:248300
HP:0008064	Ichthyosis	6786	STIM1	OMIM:185070
HP:0008064	Ichthyosis	6786	STIM1	ORPHA:3204
HP:0008064	Ichthyosis	55670	PEX26	ORPHA:772
HP:0008064	Ichthyosis	5824	PEX19	ORPHA:772
HP:0008064	Ichthyosis	5828	PEX2	ORPHA:772
HP:0008064	Ichthyosis	8504	PEX3	ORPHA:772
HP:0008064	Ichthyosis	9409	PEX16	ORPHA:772
HP:0008064	Ichthyosis	8799	PEX11B	ORPHA:772
HP:0008064	Ichthyosis	5830	PEX5	ORPHA:772
HP:0008064	Ichthyosis	5193	PEX12	ORPHA:772
HP:0008064	Ichthyosis	5194	PEX13	ORPHA:772
HP:0008064	Ichthyosis	5195	PEX14	ORPHA:772
HP:0008064	Ichthyosis	5192	PEX10	ORPHA:772
HP:0008064	Ichthyosis	415	ARSL	OMIM:302950
HP:0008064	Ichthyosis	2961	GTF2E2	OMIM:616943
HP:0008064	Ichthyosis	2961	GTF2E2	ORPHA:33364
HP:0008064	Ichthyosis	404672	GTF2H5	ORPHA:33364
HP:0008064	Ichthyosis	404672	GTF2H5	OMIM:616395
HP:0008064	Ichthyosis	833	CARS1	ORPHA:33364
HP:0008064	Ichthyosis	2068	ERCC2	ORPHA:33364
HP:0008064	Ichthyosis	7737	RNF113A	ORPHA:33364
HP:0008064	Ichthyosis	136647	MPLKIP	ORPHA:33364
HP:0008064	Ichthyosis	2071	ERCC3	ORPHA:33364
HP:0008064	Ichthyosis	2071	ERCC3	OMIM:616390
HP:0008064	Ichthyosis	64127	NOD2	ORPHA:90340
HP:0008064	Ichthyosis	9526	MPDU1	ORPHA:79323
HP:0008064	Ichthyosis	2273	FHL1	ORPHA:98863
HP:0008064	Ichthyosis	2010	EMD	ORPHA:98863
HP:0008064	Ichthyosis	84876	ORAI1	ORPHA:3204
HP:0008064	Ichthyosis	9333	TGM5	ORPHA:263534
HP:0008064	Ichthyosis	6595	SMARCA2	OMIM:601358
HP:0008064	Ichthyosis	55315	SLC29A3	ORPHA:168569
HP:0008064	Ichthyosis	6307	MSMO1	OMIM:616834
HP:0008064	Ichthyosis	204219	CERS3	ORPHA:79394
HP:0008064	Ichthyosis	285848	PNPLA1	ORPHA:79394
HP:0008064	Ichthyosis	1828	DSG1	OMIM:615508
HP:0008064	Ichthyosis	4000	LMNA	ORPHA:98855
HP:0008064	Ichthyosis	4000	LMNA	ORPHA:98853
HP:0008064	Ichthyosis	2260	FGFR1	ORPHA:478
HP:0008064	Ichthyosis	10371	SEMA3A	ORPHA:478
HP:0008064	Ichthyosis	81848	SPRY4	ORPHA:478
HP:0008064	Ichthyosis	23767	FLRT3	ORPHA:478
HP:0008064	Ichthyosis	128674	PROKR2	ORPHA:478
HP:0008064	Ichthyosis	79625	NDNF	ORPHA:478
HP:0008064	Ichthyosis	2253	FGF8	ORPHA:478
HP:0008064	Ichthyosis	389549	FEZF1	ORPHA:478
HP:0008064	Ichthyosis	1630	DCC	ORPHA:478
HP:0008064	Ichthyosis	3730	ANOS1	ORPHA:478
HP:0008064	Ichthyosis	54756	IL17RD	ORPHA:478
HP:0008064	Ichthyosis	6663	SOX10	ORPHA:478
HP:0008064	Ichthyosis	285025	CCDC141	ORPHA:478
HP:0008064	Ichthyosis	60675	PROK2	ORPHA:478
HP:0008064	Ichthyosis	55636	CHD7	ORPHA:478
HP:0008064	Ichthyosis	1848	DUSP6	ORPHA:478
HP:0008064	Ichthyosis	6870	TACR3	ORPHA:478
HP:0008064	Ichthyosis	55717	WDR11	ORPHA:478
HP:0008064	Ichthyosis	9394	HS6ST1	ORPHA:478
HP:0008064	Ichthyosis	8820	HESX1	ORPHA:478
HP:0008064	Ichthyosis	8822	FGF17	ORPHA:478
HP:0008064	Ichthyosis	79188	TMEM43	ORPHA:98853
HP:0008064	Ichthyosis	23345	SYNE1	ORPHA:98853
HP:0008064	Ichthyosis	23224	SYNE2	ORPHA:98853
HP:0008064	Ichthyosis	11005	SPINK5	ORPHA:634
HP:0008064	Ichthyosis	51360	MBTPS2	OMIM:308205
HP:0008064	Ichthyosis	6720	SREBF1	OMIM:619016
HP:0000956	Acanthosis nigricans	3767	KCNJ11	ORPHA:552
HP:0000956	Acanthosis nigricans	8462	KLF11	ORPHA:552
HP:0000956	Acanthosis nigricans	2645	GCK	ORPHA:552
HP:0000956	Acanthosis nigricans	26060	APPL1	ORPHA:552
HP:0000956	Acanthosis nigricans	640	BLK	ORPHA:552
HP:0000956	Acanthosis nigricans	1056	CEL	ORPHA:552
HP:0000956	Acanthosis nigricans	4760	NEUROD1	ORPHA:552
HP:0000956	Acanthosis nigricans	3651	PDX1	ORPHA:552
HP:0000956	Acanthosis nigricans	6833	ABCC8	ORPHA:552
HP:0000956	Acanthosis nigricans	5078	PAX4	ORPHA:552
HP:0000956	Acanthosis nigricans	3172	HNF4A	ORPHA:552
HP:0000956	Acanthosis nigricans	6927	HNF1A	ORPHA:552
HP:0000956	Acanthosis nigricans	3630	INS	ORPHA:552
HP:0000956	Acanthosis nigricans	699	BUB1	OMIM:620183
HP:0000956	Acanthosis nigricans	7840	ALMS1	ORPHA:64
HP:0000956	Acanthosis nigricans	7840	ALMS1	OMIM:203800
HP:0000956	Acanthosis nigricans	3643	INSR	OMIM:262190
HP:0000956	Acanthosis nigricans	3643	INSR	ORPHA:508
HP:0000956	Acanthosis nigricans	3643	INSR	OMIM:246200
HP:0000956	Acanthosis nigricans	3643	INSR	ORPHA:769
HP:0000956	Acanthosis nigricans	286053	NSMCE2	OMIM:617253
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:616482
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:612247
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:93274
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:93262
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:146000
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:85165
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:1860
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:15
HP:0000956	Acanthosis nigricans	26580	BSCL2	OMIM:269700
HP:0000956	Acanthosis nigricans	26580	BSCL2	ORPHA:363400
HP:0000956	Acanthosis nigricans	26580	BSCL2	ORPHA:528
HP:0000956	Acanthosis nigricans	5122	PCSK1	ORPHA:71528
HP:0000956	Acanthosis nigricans	4160	MC4R	ORPHA:71529
HP:0000956	Acanthosis nigricans	3991	LIPE	ORPHA:435660
HP:0000956	Acanthosis nigricans	3991	LIPE	OMIM:615980
HP:0000956	Acanthosis nigricans	3290	HSD11B1	OMIM:614662
HP:0000956	Acanthosis nigricans	91461	PKDCC	OMIM:618821
HP:0000956	Acanthosis nigricans	63924	CIDEC	OMIM:615238
HP:0000956	Acanthosis nigricans	63924	CIDEC	ORPHA:435651
HP:0000956	Acanthosis nigricans	5443	POMC	ORPHA:71526
HP:0000956	Acanthosis nigricans	857	CAV1	OMIM:612526
HP:0000956	Acanthosis nigricans	857	CAV1	ORPHA:528
HP:0000956	Acanthosis nigricans	857	CAV1	OMIM:606721
HP:0000956	Acanthosis nigricans	5189	PEX1	ORPHA:3220
HP:0000956	Acanthosis nigricans	5190	PEX6	ORPHA:3220
HP:0000956	Acanthosis nigricans	2099	ESR1	ORPHA:785
HP:0000956	Acanthosis nigricans	2099	ESR1	OMIM:615363
HP:0000956	Acanthosis nigricans	27125	AFF4	ORPHA:444077
HP:0000956	Acanthosis nigricans	5346	PLIN1	ORPHA:280356
HP:0000956	Acanthosis nigricans	5346	PLIN1	OMIM:613877
HP:0000956	Acanthosis nigricans	5468	PPARG	OMIM:604367
HP:0000956	Acanthosis nigricans	5468	PPARG	ORPHA:79083
HP:0000956	Acanthosis nigricans	5468	PPARG	ORPHA:528
HP:0000956	Acanthosis nigricans	3728	JUP	ORPHA:34217
HP:0000956	Acanthosis nigricans	2263	FGFR2	ORPHA:1555
HP:0000956	Acanthosis nigricans	2263	FGFR2	OMIM:123790
HP:0000956	Acanthosis nigricans	2263	FGFR2	ORPHA:207
HP:0000956	Acanthosis nigricans	8450	CUL4B	ORPHA:85293
HP:0000956	Acanthosis nigricans	4000	LMNA	OMIM:248370
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:280365
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:79084
HP:0000956	Acanthosis nigricans	4000	LMNA	OMIM:151660
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:2348
HP:0000956	Acanthosis nigricans	9076	CLDN1	ORPHA:59303
HP:0000956	Acanthosis nigricans	11128	POLR3A	ORPHA:3455
HP:0000956	Acanthosis nigricans	7030	TFE3	OMIM:301066
HP:0000956	Acanthosis nigricans	5692	PSMB4	OMIM:617591
HP:0000956	Acanthosis nigricans	5698	PSMB9	OMIM:617591
HP:0000956	Acanthosis nigricans	7518	XRCC4	OMIM:616541
HP:0000956	Acanthosis nigricans	6603	SMARCD2	OMIM:617475
HP:0000956	Acanthosis nigricans	1315	COPB1	OMIM:619255
HP:0000956	Acanthosis nigricans	64834	ELOVL1	OMIM:618527
HP:0000956	Acanthosis nigricans	208	AKT2	ORPHA:79085
HP:0000956	Acanthosis nigricans	2077	ERF	ORPHA:207
HP:0000956	Acanthosis nigricans	10555	AGPAT2	ORPHA:528
HP:0000956	Acanthosis nigricans	10555	AGPAT2	OMIM:608594
HP:0000956	Acanthosis nigricans	284119	CAVIN1	ORPHA:528
HP:0000956	Acanthosis nigricans	284119	CAVIN1	OMIM:613327
HP:0000956	Acanthosis nigricans	2353	FOS	ORPHA:528
HP:0000956	Acanthosis nigricans	83550	GPR101	ORPHA:963
HP:0000956	Acanthosis nigricans	83550	GPR101	OMIM:300942
HP:0000956	Acanthosis nigricans	9049	AIP	ORPHA:963
HP:0000956	Acanthosis nigricans	3265	HRAS	ORPHA:3071
HP:0000956	Acanthosis nigricans	3265	HRAS	OMIM:218040
HP:0000956	Acanthosis nigricans	5696	PSMB8	OMIM:256040
HP:0000956	Acanthosis nigricans	3720	JARID2	OMIM:620098
HP:0000956	Acanthosis nigricans	1588	CYP19A1	ORPHA:91
HP:0000956	Acanthosis nigricans	11005	SPINK5	ORPHA:634
HP:0000957	Cafe-au-lait spot	3479	IGF1	ORPHA:73272
HP:0000957	Cafe-au-lait spot	8036	SHOC2	OMIM:607721
HP:0000957	Cafe-au-lait spot	8367	H4C5	OMIM:619950
HP:0000957	Cafe-au-lait spot	8216	LZTR1	OMIM:616564
HP:0000957	Cafe-au-lait spot	8216	LZTR1	OMIM:605275
HP:0000957	Cafe-au-lait spot	4683	NBN	OMIM:251260
HP:0000957	Cafe-au-lait spot	23135	KDM6B	OMIM:618505
HP:0000957	Cafe-au-lait spot	55240	STEAP3	OMIM:615234
HP:0000957	Cafe-au-lait spot	55240	STEAP3	ORPHA:300298
HP:0000957	Cafe-au-lait spot	55654	TMEM127	OMIM:171300
HP:0000957	Cafe-au-lait spot	5979	RET	OMIM:171300
HP:0000957	Cafe-au-lait spot	6390	SDHB	OMIM:171300
HP:0000957	Cafe-au-lait spot	6392	SDHD	OMIM:171300
HP:0000957	Cafe-au-lait spot	4149	MAX	OMIM:171300
HP:0000957	Cafe-au-lait spot	7428	VHL	OMIM:171300
HP:0000957	Cafe-au-lait spot	161742	SPRED1	OMIM:611431
HP:0000957	Cafe-au-lait spot	5894	RAF1	OMIM:611554
HP:0000957	Cafe-au-lait spot	5894	RAF1	OMIM:611553
HP:0000957	Cafe-au-lait spot	4254	KITLG	OMIM:145250
HP:0000957	Cafe-au-lait spot	4254	KITLG	OMIM:619947
HP:0000957	Cafe-au-lait spot	324	APC	ORPHA:99818
HP:0000957	Cafe-au-lait spot	26040	SETBP1	ORPHA:436151
HP:0000957	Cafe-au-lait spot	64682	ANAPC1	OMIM:618625
HP:0000957	Cafe-au-lait spot	10060	ABCC9	OMIM:619719
HP:0000957	Cafe-au-lait spot	84570	COL25A1	ORPHA:91411
HP:0000957	Cafe-au-lait spot	79776	ZFHX4	ORPHA:91411
HP:0000957	Cafe-au-lait spot	6548	SLC9A1	OMIM:616291
HP:0000957	Cafe-au-lait spot	197131	UBR1	OMIM:243800
HP:0000957	Cafe-au-lait spot	2175	FANCA	OMIM:227650
HP:0000957	Cafe-au-lait spot	55215	FANCI	OMIM:609053
HP:0000957	Cafe-au-lait spot	4893	NRAS	OMIM:613224
HP:0000957	Cafe-au-lait spot	472	ATM	OMIM:208900
HP:0000957	Cafe-au-lait spot	2188	FANCF	OMIM:603467
HP:0000957	Cafe-au-lait spot	284058	KANSL1	ORPHA:363958
HP:0000957	Cafe-au-lait spot	284058	KANSL1	ORPHA:363965
HP:0000957	Cafe-au-lait spot	3481	IGF2	OMIM:180860
HP:0000957	Cafe-au-lait spot	3481	IGF2	ORPHA:397590
HP:0000957	Cafe-au-lait spot	4763	NF1	ORPHA:363700
HP:0000957	Cafe-au-lait spot	4763	NF1	OMIM:162210
HP:0000957	Cafe-au-lait spot	2178	FANCE	OMIM:600901
HP:0000957	Cafe-au-lait spot	7156	TOP3A	OMIM:618097
HP:0000957	Cafe-au-lait spot	2475	MTOR	ORPHA:457485
HP:0000957	Cafe-au-lait spot	2475	MTOR	OMIM:616638
HP:0000957	Cafe-au-lait spot	6663	SOX10	OMIM:611584
HP:0000957	Cafe-au-lait spot	51729	WBP11	OMIM:619227
HP:0000957	Cafe-au-lait spot	5116	PCNT	OMIM:210720
HP:0000957	Cafe-au-lait spot	4771	NF2	OMIM:101000
HP:0000957	Cafe-au-lait spot	699	BUB1	OMIM:620183
HP:0000957	Cafe-au-lait spot	1186	CLCN7	OMIM:618541
HP:0000957	Cafe-au-lait spot	1387	CREBBP	OMIM:180849
HP:0000957	Cafe-au-lait spot	2033	EP300	OMIM:180849
HP:0000957	Cafe-au-lait spot	7249	TSC2	OMIM:613254
HP:0000957	Cafe-au-lait spot	3458	IFNG	OMIM:613254
HP:0000957	Cafe-au-lait spot	10283	CWC27	OMIM:250410
HP:0000957	Cafe-au-lait spot	10283	CWC27	ORPHA:166035
HP:0000957	Cafe-au-lait spot	8936	WASF1	OMIM:618707
HP:0000957	Cafe-au-lait spot	55719	SLF2	OMIM:620184
HP:0000957	Cafe-au-lait spot	5605	MAP2K2	OMIM:615280
HP:0000957	Cafe-au-lait spot	285590	SH3PXD2B	OMIM:249420
HP:0000957	Cafe-au-lait spot	5594	MAPK1	OMIM:619087
HP:0000957	Cafe-au-lait spot	9702	CEP57	OMIM:614114
HP:0000957	Cafe-au-lait spot	1028	CDKN1C	ORPHA:397590
HP:0000957	Cafe-au-lait spot	5324	PLAG1	ORPHA:397590
HP:0000957	Cafe-au-lait spot	8091	HMGA2	ORPHA:397590
HP:0000957	Cafe-au-lait spot	641	BLM	OMIM:210900
HP:0000957	Cafe-au-lait spot	641	BLM	ORPHA:125
HP:0000957	Cafe-au-lait spot	5500	PPP1CB	OMIM:617506
HP:0000957	Cafe-au-lait spot	7248	TSC1	OMIM:191100
HP:0000957	Cafe-au-lait spot	79728	PALB2	OMIM:610832
HP:0000957	Cafe-au-lait spot	675	BRCA2	OMIM:605724
HP:0000957	Cafe-au-lait spot	2177	FANCD2	OMIM:227646
HP:0000957	Cafe-au-lait spot	2176	FANCC	OMIM:227645
HP:0000957	Cafe-au-lait spot	55120	FANCL	OMIM:614083
HP:0000957	Cafe-au-lait spot	9968	MED12	OMIM:300895
HP:0000957	Cafe-au-lait spot	4221	MEN1	OMIM:131100
HP:0000957	Cafe-au-lait spot	9652	SKIC3	OMIM:222470
HP:0000957	Cafe-au-lait spot	9652	SKIC3	ORPHA:84064
HP:0000957	Cafe-au-lait spot	55023	PHIP	OMIM:617991
HP:0000957	Cafe-au-lait spot	55023	PHIP	ORPHA:589905
HP:0000957	Cafe-au-lait spot	1315	COPB1	OMIM:619255
HP:0000957	Cafe-au-lait spot	84464	SLX4	OMIM:613951
HP:0000957	Cafe-au-lait spot	157570	ESCO2	OMIM:268300
HP:0000957	Cafe-au-lait spot	6595	SMARCA2	OMIM:601358
HP:0000957	Cafe-au-lait spot	5781	PTPN11	OMIM:151100
HP:0000957	Cafe-au-lait spot	5781	PTPN11	OMIM:163950
HP:0000957	Cafe-au-lait spot	867	CBL	OMIM:613563
HP:0000957	Cafe-au-lait spot	6499	SKIC2	ORPHA:84064
HP:0000957	Cafe-au-lait spot	22907	DHX30	OMIM:617804
HP:0000957	Cafe-au-lait spot	5426	POLE	OMIM:618336
HP:0000957	Cafe-au-lait spot	5604	MAP2K1	OMIM:163950
HP:0000957	Cafe-au-lait spot	8085	KMT2D	OMIM:147920
HP:0000957	Cafe-au-lait spot	7403	KDM6A	OMIM:147920
HP:0000957	Cafe-au-lait spot	2783	GNB2	OMIM:619503
HP:0000957	Cafe-au-lait spot	6418	SET	OMIM:618106
HP:0000957	Cafe-au-lait spot	5932	RBBP8	OMIM:606744
HP:0000957	Cafe-au-lait spot	9319	TRIP13	OMIM:617598
HP:0000957	Cafe-au-lait spot	673	BRAF	OMIM:613707
HP:0000957	Cafe-au-lait spot	4436	MSH2	OMIM:619096
HP:0000957	Cafe-au-lait spot	2956	MSH6	OMIM:619097
HP:0000957	Cafe-au-lait spot	5980	REV3L	ORPHA:570
HP:0000957	Cafe-au-lait spot	23129	PLXND1	ORPHA:570
HP:0000957	Cafe-au-lait spot	11253	MAN1B1	ORPHA:397941
HP:0000957	Cafe-au-lait spot	2189	FANCG	OMIM:614082
HP:0000957	Cafe-au-lait spot	2189	FANCG	ORPHA:84
HP:0000957	Cafe-au-lait spot	8242	KDM5C	ORPHA:85279
HP:0000957	Cafe-au-lait spot	3845	KRAS	ORPHA:1340
HP:0000957	Cafe-au-lait spot	5728	PTEN	ORPHA:109
HP:0000957	Cafe-au-lait spot	5728	PTEN	ORPHA:744
HP:0000957	Cafe-au-lait spot	5728	PTEN	ORPHA:201
HP:0000957	Cafe-au-lait spot	672	BRCA1	ORPHA:84
HP:0000957	Cafe-au-lait spot	10459	MAD2L2	ORPHA:84
HP:0000957	Cafe-au-lait spot	7516	XRCC2	ORPHA:84
HP:0000957	Cafe-au-lait spot	29089	UBE2T	ORPHA:84
HP:0000957	Cafe-au-lait spot	2187	FANCB	ORPHA:84
HP:0000957	Cafe-au-lait spot	5888	RAD51	ORPHA:84
HP:0000957	Cafe-au-lait spot	5889	RAD51C	ORPHA:84
HP:0000957	Cafe-au-lait spot	55159	RFWD3	ORPHA:84
HP:0000957	Cafe-au-lait spot	83990	BRIP1	ORPHA:84
HP:0000957	Cafe-au-lait spot	83990	BRIP1	OMIM:609054
HP:0000957	Cafe-au-lait spot	57697	FANCM	ORPHA:84
HP:0000957	Cafe-au-lait spot	2072	ERCC4	ORPHA:84
HP:0000957	Cafe-au-lait spot	11322	TMC6	ORPHA:302
HP:0000957	Cafe-au-lait spot	3574	IL7	ORPHA:302
HP:0000957	Cafe-au-lait spot	147138	TMC8	ORPHA:302
HP:0000957	Cafe-au-lait spot	10519	CIB1	ORPHA:302
HP:0000957	Cafe-au-lait spot	4292	MLH1	OMIM:276300
HP:0000957	Cafe-au-lait spot	207	AKT1	ORPHA:744
HP:0000957	Cafe-au-lait spot	207	AKT1	ORPHA:201
HP:0000957	Cafe-au-lait spot	10483	SEC23B	ORPHA:201
HP:0000957	Cafe-au-lait spot	6391	SDHC	ORPHA:201
HP:0000957	Cafe-au-lait spot	205717	USF3	ORPHA:201
HP:0000957	Cafe-au-lait spot	5290	PIK3CA	ORPHA:201
HP:0000957	Cafe-au-lait spot	100144748	KLLN	ORPHA:201
HP:0000957	Cafe-au-lait spot	117581	TWIST2	ORPHA:1807
HP:0000957	Cafe-au-lait spot	10058	ABCB6	ORPHA:241
HP:0000957	Cafe-au-lait spot	8626	TP63	ORPHA:69085
HP:0000957	Cafe-au-lait spot	9184	BUB3	ORPHA:1052
HP:0000957	Cafe-au-lait spot	701	BUB1B	ORPHA:1052
HP:0000957	Cafe-au-lait spot	5395	PMS2	OMIM:619101
HP:0000957	Cafe-au-lait spot	473	RERE	OMIM:616975
HP:0000957	Cafe-au-lait spot	5573	PRKAR1A	ORPHA:1359
HP:0000957	Cafe-au-lait spot	50940	PDE11A	ORPHA:1359
HP:0000957	Cafe-au-lait spot	2767	GNA11	ORPHA:1556
HP:0000957	Cafe-au-lait spot	151188	ARL6IP6	ORPHA:1556
HP:0000958	Dry skin	54101	RIPK4	ORPHA:1401
HP:0000958	Dry skin	54101	RIPK4	OMIM:263650
HP:0000958	Dry skin	128178	EDARADD	OMIM:614940
HP:0000958	Dry skin	128178	EDARADD	OMIM:614941
HP:0000958	Dry skin	128178	EDARADD	ORPHA:248
HP:0000958	Dry skin	128178	EDARADD	OMIM:129490
HP:0000958	Dry skin	5894	RAF1	OMIM:611554
HP:0000958	Dry skin	5894	RAF1	OMIM:611553
HP:0000958	Dry skin	19	ABCA1	OMIM:205400
HP:0000958	Dry skin	19	ABCA1	ORPHA:31150
HP:0000958	Dry skin	114803	MYSM1	ORPHA:508542
HP:0000958	Dry skin	114803	MYSM1	OMIM:618116
HP:0000958	Dry skin	7849	PAX8	OMIM:218700
HP:0000958	Dry skin	56916	SMARCAD1	ORPHA:384
HP:0000958	Dry skin	224	ALDH3A2	ORPHA:816
HP:0000958	Dry skin	8626	TP63	OMIM:103285
HP:0000958	Dry skin	8626	TP63	OMIM:129400
HP:0000958	Dry skin	8626	TP63	ORPHA:69085
HP:0000958	Dry skin	8626	TP63	ORPHA:978
HP:0000958	Dry skin	8626	TP63	ORPHA:1896
HP:0000958	Dry skin	1161	ERCC8	OMIM:216400
HP:0000958	Dry skin	7252	TSHB	ORPHA:90674
HP:0000958	Dry skin	7252	TSHB	OMIM:275100
HP:0000958	Dry skin	388698	FLG2	OMIM:618084
HP:0000958	Dry skin	2074	ERCC6	OMIM:600630
HP:0000958	Dry skin	2074	ERCC6	OMIM:133540
HP:0000958	Dry skin	1896	EDA	OMIM:305100
HP:0000958	Dry skin	56992	KIF15	ORPHA:261323
HP:0000958	Dry skin	9071	CLDN10	OMIM:617671
HP:0000958	Dry skin	26277	TINF2	OMIM:613990
HP:0000958	Dry skin	64834	ELOVL1	OMIM:618527
HP:0000958	Dry skin	816	CAMK2B	OMIM:617799
HP:0000958	Dry skin	80326	WNT10A	OMIM:257980
HP:0000958	Dry skin	80326	WNT10A	OMIM:224750
HP:0000958	Dry skin	80326	WNT10A	ORPHA:248
HP:0000958	Dry skin	80326	WNT10A	OMIM:150400
HP:0000958	Dry skin	857	CAV1	OMIM:606721
HP:0000958	Dry skin	55012	PPP2R3C	OMIM:618419
HP:0000958	Dry skin	2783	GNB2	OMIM:619503
HP:0000958	Dry skin	1474	CST6	OMIM:618535
HP:0000958	Dry skin	200734	SPRED2	OMIM:619745
HP:0000958	Dry skin	4853	NOTCH2	ORPHA:955
HP:0000958	Dry skin	3981	LIG4	ORPHA:235
HP:0000958	Dry skin	3981	LIG4	ORPHA:39041
HP:0000958	Dry skin	54888	NSUN2	ORPHA:235
HP:0000958	Dry skin	4953	ODC1	OMIM:619075
HP:0000958	Dry skin	11128	POLR3A	OMIM:264090
HP:0000958	Dry skin	55719	SLF2	OMIM:620184
HP:0000958	Dry skin	283209	PGM2L1	OMIM:620191
HP:0000958	Dry skin	2312	FLG	ORPHA:461
HP:0000958	Dry skin	2312	FLG	OMIM:146700
HP:0000958	Dry skin	412	STS	ORPHA:461
HP:0000958	Dry skin	2934	GSN	ORPHA:85448
HP:0000958	Dry skin	253959	RALGAPA1	OMIM:618797
HP:0000958	Dry skin	5594	MAPK1	OMIM:619087
HP:0000958	Dry skin	6785	ELOVL4	ORPHA:1955
HP:0000958	Dry skin	6785	ELOVL4	OMIM:614457
HP:0000958	Dry skin	9180	OSMR	OMIM:105250
HP:0000958	Dry skin	57654	UVSSA	OMIM:614640
HP:0000958	Dry skin	2961	GTF2E2	OMIM:616943
HP:0000958	Dry skin	2961	GTF2E2	ORPHA:33364
HP:0000958	Dry skin	404672	GTF2H5	ORPHA:33364
HP:0000958	Dry skin	833	CARS1	ORPHA:33364
HP:0000958	Dry skin	2068	ERCC2	ORPHA:33364
HP:0000958	Dry skin	2068	ERCC2	ORPHA:910
HP:0000958	Dry skin	2068	ERCC2	OMIM:601675
HP:0000958	Dry skin	2068	ERCC2	ORPHA:220295
HP:0000958	Dry skin	7737	RNF113A	ORPHA:33364
HP:0000958	Dry skin	136647	MPLKIP	ORPHA:33364
HP:0000958	Dry skin	6897	TARS1	ORPHA:33364
HP:0000958	Dry skin	2071	ERCC3	ORPHA:33364
HP:0000958	Dry skin	2071	ERCC3	ORPHA:910
HP:0000958	Dry skin	2071	ERCC3	ORPHA:220295
HP:0000958	Dry skin	2072	ERCC4	OMIM:610965
HP:0000958	Dry skin	2072	ERCC4	ORPHA:910
HP:0000958	Dry skin	2072	ERCC4	ORPHA:220295
HP:0000958	Dry skin	64127	NOD2	ORPHA:90340
HP:0000958	Dry skin	10913	EDAR	ORPHA:248
HP:0000958	Dry skin	10913	EDAR	OMIM:129490
HP:0000958	Dry skin	1476	CSTB	ORPHA:248
HP:0000958	Dry skin	5429	POLH	ORPHA:90342
HP:0000958	Dry skin	7201	TRHR	ORPHA:99832
HP:0000958	Dry skin	6528	SLC5A5	OMIM:274400
HP:0000958	Dry skin	117581	TWIST2	ORPHA:920
HP:0000958	Dry skin	117581	TWIST2	OMIM:200110
HP:0000958	Dry skin	117581	TWIST2	OMIM:209885
HP:0000958	Dry skin	3861	KRT14	ORPHA:69087
HP:0000958	Dry skin	112752	IFT43	OMIM:614099
HP:0000958	Dry skin	5587	PRKD1	OMIM:617364
HP:0000958	Dry skin	10457	GPNMB	OMIM:617920
HP:0000958	Dry skin	7319	UBE2A	ORPHA:163956
HP:0000958	Dry skin	7319	UBE2A	OMIM:300860
HP:0000958	Dry skin	2697	GJA1	ORPHA:1010
HP:0000958	Dry skin	2697	GJA1	ORPHA:317
HP:0000958	Dry skin	55770	EXOC2	OMIM:619306
HP:0000958	Dry skin	165918	RNF168	OMIM:611943
HP:0000958	Dry skin	1493	CTLA4	ORPHA:2584
HP:0000958	Dry skin	1493	CTLA4	ORPHA:3162
HP:0000958	Dry skin	940	CD28	ORPHA:2584
HP:0000958	Dry skin	940	CD28	ORPHA:3162
HP:0000958	Dry skin	7133	TNFRSF1B	ORPHA:2584
HP:0000958	Dry skin	7133	TNFRSF1B	ORPHA:3162
HP:0000958	Dry skin	10535	RNASEH2A	ORPHA:51
HP:0000958	Dry skin	84153	RNASEH2C	ORPHA:51
HP:0000958	Dry skin	25939	SAMHD1	ORPHA:51
HP:0000958	Dry skin	25939	SAMHD1	OMIM:612952
HP:0000958	Dry skin	79621	RNASEH2B	ORPHA:51
HP:0000958	Dry skin	103	ADAR	ORPHA:51
HP:0000958	Dry skin	11277	TREX1	ORPHA:51
HP:0000958	Dry skin	100147744	RNU7-1	ORPHA:51
HP:0000958	Dry skin	100147744	RNU7-1	OMIM:619487
HP:0000958	Dry skin	134353	LSM11	ORPHA:51
HP:0000958	Dry skin	64135	IFIH1	ORPHA:51
HP:0000958	Dry skin	7507	XPA	ORPHA:910
HP:0000958	Dry skin	7508	XPC	ORPHA:910
HP:0000958	Dry skin	1643	DDB2	ORPHA:910
HP:0000958	Dry skin	2073	ERCC5	ORPHA:910
HP:0000958	Dry skin	2073	ERCC5	ORPHA:220295
HP:0000958	Dry skin	23013	SPEN	OMIM:619312
HP:0000958	Dry skin	100151683	RNU4ATAC	OMIM:210710
HP:0000958	Dry skin	4308	TRPM1	OMIM:613216
HP:0000958	Dry skin	9526	MPDU1	OMIM:609180
HP:0000958	Dry skin	2767	GNA11	ORPHA:428
HP:0000958	Dry skin	846	CASR	ORPHA:428
HP:0000958	Dry skin	6261	RYR1	ORPHA:466650
HP:0000958	Dry skin	55630	SLC39A4	ORPHA:37
HP:0000958	Dry skin	55630	SLC39A4	OMIM:201100
HP:0000958	Dry skin	51360	MBTPS2	OMIM:308800
HP:0000958	Dry skin	51360	MBTPS2	OMIM:308205
HP:0000958	Dry skin	831	CAST	OMIM:616295
HP:0000958	Dry skin	22861	NLRP1	OMIM:617388
HP:0000958	Dry skin	4792	NFKBIA	OMIM:612132
HP:0000958	Dry skin	79644	SRD5A3	OMIM:612379
HP:0000958	Dry skin	5053	PAH	OMIM:261600
HP:0000958	Dry skin	7200	TRH	OMIM:275120
HP:0000958	Dry skin	9837	GINS1	OMIM:617827
HP:0000958	Dry skin	3417	IDH1	ORPHA:99646
HP:0000958	Dry skin	5604	MAP2K1	ORPHA:1340
HP:0000958	Dry skin	5604	MAP2K1	OMIM:163950
HP:0000958	Dry skin	5605	MAP2K2	ORPHA:1340
HP:0000958	Dry skin	3845	KRAS	ORPHA:1340
HP:0000958	Dry skin	673	BRAF	ORPHA:1340
HP:0000958	Dry skin	673	BRAF	OMIM:613707
HP:0000958	Dry skin	673	BRAF	OMIM:163950
HP:0000958	Dry skin	22845	DOLK	OMIM:610768
HP:0000958	Dry skin	538	ATP7A	ORPHA:565
HP:0000958	Dry skin	23328	SASH1	OMIM:618373
HP:0000958	Dry skin	3848	KRT1	ORPHA:530838
HP:0000958	Dry skin	7067	THRA	OMIM:614450
HP:0000958	Dry skin	57511	COG6	OMIM:614576
HP:0000958	Dry skin	6304	SATB1	OMIM:619229
HP:0000958	Dry skin	2707	GJB3	ORPHA:317
HP:0000958	Dry skin	2531	KDSR	ORPHA:317
HP:0000958	Dry skin	127534	GJB4	ORPHA:317
HP:0000958	Dry skin	151516	ASPRV1	ORPHA:313
HP:0000958	Dry skin	242	ALOX12B	ORPHA:313
HP:0000958	Dry skin	126410	CYP4F22	ORPHA:313
HP:0000958	Dry skin	6820	SULT2B1	ORPHA:313
HP:0000958	Dry skin	26154	ABCA12	ORPHA:313
HP:0000958	Dry skin	643418	LIPN	ORPHA:313
HP:0000958	Dry skin	59344	ALOXE3	ORPHA:313
HP:0000958	Dry skin	348938	NIPAL4	ORPHA:313
HP:0000958	Dry skin	348938	NIPAL4	OMIM:612281
HP:0000958	Dry skin	121214	SDR9C7	ORPHA:313
HP:0000958	Dry skin	7051	TGM1	ORPHA:313
HP:0000958	Dry skin	3643	INSR	OMIM:262190
HP:0000958	Dry skin	3643	INSR	ORPHA:769
HP:0000958	Dry skin	2517	FUCA1	OMIM:230000
HP:0000958	Dry skin	6023	RMRP	ORPHA:39041
HP:0000958	Dry skin	55636	CHD7	ORPHA:39041
HP:0000958	Dry skin	5896	RAG1	ORPHA:39041
HP:0000958	Dry skin	5897	RAG2	ORPHA:39041
HP:0000958	Dry skin	64421	DCLRE1C	ORPHA:39041
HP:0000958	Dry skin	100	ADA	ORPHA:39041
HP:0000958	Dry skin	3575	IL7R	ORPHA:39041
HP:0000958	Dry skin	3561	IL2RG	ORPHA:39041
HP:0000958	Dry skin	5184	PEPD	ORPHA:742
HP:0000958	Dry skin	284252	KCTD1	OMIM:181270
HP:0000958	Dry skin	9325	TRIP4	OMIM:617066
HP:0000958	Dry skin	9325	TRIP4	ORPHA:486815
HP:0000958	Dry skin	2222	FDFT1	OMIM:618156
HP:0000958	Dry skin	440138	ALG11	ORPHA:280071
HP:0000958	Dry skin	91875	TTC5	OMIM:619244
HP:0000958	Dry skin	3832	KIF11	ORPHA:2526
HP:0000958	Dry skin	8314	BAP1	ORPHA:618
HP:0000958	Dry skin	4286	MITF	ORPHA:618
HP:0000958	Dry skin	1019	CDK4	ORPHA:618
HP:0000958	Dry skin	4255	MGMT	ORPHA:618
HP:0000958	Dry skin	54386	TERF2IP	ORPHA:618
HP:0000958	Dry skin	4157	MC1R	ORPHA:618
HP:0000958	Dry skin	65057	ACD	ORPHA:618
HP:0000958	Dry skin	1029	CDKN2A	ORPHA:618
HP:0000958	Dry skin	7015	TERT	ORPHA:618
HP:0000958	Dry skin	25913	POT1	ORPHA:618
HP:0000958	Dry skin	1030	CDKN2B	ORPHA:618
HP:0000958	Dry skin	9076	CLDN1	OMIM:607626
HP:0000958	Dry skin	84905	ZNF341	OMIM:618282
HP:0000958	Dry skin	5264	PHYH	ORPHA:773
HP:0000958	Dry skin	5191	PEX7	ORPHA:773
HP:0000958	Dry skin	7480	WNT10B	OMIM:617073
HP:0000958	Dry skin	1650	DDOST	ORPHA:300536
HP:0000958	Dry skin	9487	PIGL	OMIM:280000
HP:0000958	Dry skin	5116	PCNT	ORPHA:2637
HP:0000958	Dry skin	8815	BANF1	OMIM:614008
HP:0000958	Dry skin	284058	KANSL1	OMIM:610443
HP:0000958	Dry skin	8799	PEX11B	OMIM:614920
HP:0000958	Dry skin	8481	OFD1	ORPHA:2750
HP:0000958	Dry skin	4668	NAGA	OMIM:609242
HP:0000958	Dry skin	4914	NTRK1	ORPHA:642
HP:0000958	Dry skin	55181	SMG8	OMIM:619268
HP:0000958	Dry skin	9652	SKIC3	ORPHA:84064
HP:0000958	Dry skin	6499	SKIC2	ORPHA:84064
HP:0000958	Dry skin	8942	KYNU	ORPHA:79155
HP:0000958	Dry skin	2260	FGFR1	ORPHA:3157
HP:0000958	Dry skin	128674	PROKR2	ORPHA:3157
HP:0000958	Dry skin	6657	SOX2	ORPHA:3157
HP:0000958	Dry skin	6658	SOX3	ORPHA:3157
HP:0000958	Dry skin	9915	ARNT2	ORPHA:3157
HP:0000958	Dry skin	8820	HESX1	ORPHA:3157
HP:0000958	Dry skin	5015	OTX2	ORPHA:3157
HP:0000958	Dry skin	5781	PTPN11	OMIM:163950
HP:0000958	Dry skin	11005	SPINK5	ORPHA:634
HP:0000978	Bruising susceptibility	4088	SMAD3	ORPHA:284984
HP:0000978	Bruising susceptibility	4088	SMAD3	OMIM:613795
HP:0000978	Bruising susceptibility	4088	SMAD3	ORPHA:91387
HP:0000978	Bruising susceptibility	355	FAS	ORPHA:3261
HP:0000978	Bruising susceptibility	356	FASLG	ORPHA:3261
HP:0000978	Bruising susceptibility	5580	PRKCD	ORPHA:3261
HP:0000978	Bruising susceptibility	843	CASP10	ORPHA:3261
HP:0000978	Bruising susceptibility	10125	RASGRP1	ORPHA:3261
HP:0000978	Bruising susceptibility	2157	F8	ORPHA:177926
HP:0000978	Bruising susceptibility	2157	F8	OMIM:306700
HP:0000978	Bruising susceptibility	2157	F8	ORPHA:169802
HP:0000978	Bruising susceptibility	2811	GP1BA	OMIM:153670
HP:0000978	Bruising susceptibility	2811	GP1BA	ORPHA:274
HP:0000978	Bruising susceptibility	2812	GP1BB	ORPHA:274
HP:0000978	Bruising susceptibility	2815	GP9	ORPHA:274
HP:0000978	Bruising susceptibility	2243	FGA	OMIM:202400
HP:0000978	Bruising susceptibility	2244	FGB	OMIM:202400
HP:0000978	Bruising susceptibility	2266	FGG	OMIM:202400
HP:0000978	Bruising susceptibility	1281	COL3A1	OMIM:618343
HP:0000978	Bruising susceptibility	1281	COL3A1	OMIM:130050
HP:0000978	Bruising susceptibility	1281	COL3A1	ORPHA:286
HP:0000978	Bruising susceptibility	5351	PLOD1	OMIM:225400
HP:0000978	Bruising susceptibility	5351	PLOD1	ORPHA:1900
HP:0000978	Bruising susceptibility	7148	TNXB	ORPHA:230839
HP:0000978	Bruising susceptibility	7148	TNXB	OMIM:606408
HP:0000978	Bruising susceptibility	2778	GNAS	OMIM:219080
HP:0000978	Bruising susceptibility	2778	GNAS	ORPHA:189427
HP:0000978	Bruising susceptibility	538	ATP7A	OMIM:304150
HP:0000978	Bruising susceptibility	538	ATP7A	ORPHA:198
HP:0000978	Bruising susceptibility	10312	TCIRG1	ORPHA:667
HP:0000978	Bruising susceptibility	1186	CLCN7	ORPHA:667
HP:0000978	Bruising susceptibility	29887	SNX10	ORPHA:667
HP:0000978	Bruising susceptibility	8600	TNFSF11	ORPHA:667
HP:0000978	Bruising susceptibility	5551	PRF1	ORPHA:540
HP:0000978	Bruising susceptibility	8676	STX11	ORPHA:540
HP:0000978	Bruising susceptibility	201294	UNC13D	ORPHA:540
HP:0000978	Bruising susceptibility	6813	STXBP2	ORPHA:540
HP:0000978	Bruising susceptibility	54453	RIN2	ORPHA:217335
HP:0000978	Bruising susceptibility	54453	RIN2	OMIM:613075
HP:0000978	Bruising susceptibility	1278	COL1A2	ORPHA:230851
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:617821
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:225320
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:619120
HP:0000978	Bruising susceptibility	2623	GATA1	OMIM:300367
HP:0000978	Bruising susceptibility	2623	GATA1	OMIM:314050
HP:0000978	Bruising susceptibility	2175	FANCA	OMIM:227650
HP:0000978	Bruising susceptibility	2120	ETV6	OMIM:616216
HP:0000978	Bruising susceptibility	50940	PDE11A	OMIM:610475
HP:0000978	Bruising susceptibility	50940	PDE11A	ORPHA:1359
HP:0000978	Bruising susceptibility	50940	PDE11A	ORPHA:189439
HP:0000978	Bruising susceptibility	2162	F13A1	OMIM:613225
HP:0000978	Bruising susceptibility	2162	F13A1	ORPHA:331
HP:0000978	Bruising susceptibility	55033	FKBP14	OMIM:614557
HP:0000978	Bruising susceptibility	55033	FKBP14	ORPHA:300179
HP:0000978	Bruising susceptibility	10235	RASGRP2	OMIM:615888
HP:0000978	Bruising susceptibility	1130	LYST	OMIM:214500
HP:0000978	Bruising susceptibility	1130	LYST	ORPHA:167
HP:0000978	Bruising susceptibility	1130	LYST	ORPHA:352723
HP:0000978	Bruising susceptibility	7132	TNFRSF1A	ORPHA:32960
HP:0000978	Bruising susceptibility	5573	PRKAR1A	ORPHA:1359
HP:0000978	Bruising susceptibility	5573	PRKAR1A	OMIM:610489
HP:0000978	Bruising susceptibility	5573	PRKAR1A	ORPHA:189439
HP:0000978	Bruising susceptibility	5573	PRKAR1A	ORPHA:520
HP:0000978	Bruising susceptibility	2542	SLC37A4	ORPHA:79259
HP:0000978	Bruising susceptibility	23218	NBEAL2	OMIM:139090
HP:0000978	Bruising susceptibility	23218	NBEAL2	ORPHA:721
HP:0000978	Bruising susceptibility	2165	F13B	ORPHA:331
HP:0000978	Bruising susceptibility	2165	F13B	OMIM:613235
HP:0000978	Bruising susceptibility	63915	BLOC1S5	OMIM:619172
HP:0000978	Bruising susceptibility	84196	USP48	ORPHA:96253
HP:0000978	Bruising susceptibility	7157	TP53	ORPHA:96253
HP:0000978	Bruising susceptibility	9101	USP8	ORPHA:96253
HP:0000978	Bruising susceptibility	9101	USP8	OMIM:219090
HP:0000978	Bruising susceptibility	64072	CDH23	ORPHA:96253
HP:0000978	Bruising susceptibility	2908	NR3C1	ORPHA:96253
HP:0000978	Bruising susceptibility	673	BRAF	ORPHA:96253
HP:0000978	Bruising susceptibility	673	BRAF	OMIM:163950
HP:0000978	Bruising susceptibility	546	ATRX	ORPHA:96253
HP:0000978	Bruising susceptibility	546	ATRX	ORPHA:231401
HP:0000978	Bruising susceptibility	3039	HBA1	ORPHA:98791
HP:0000978	Bruising susceptibility	3040	HBA2	ORPHA:98791
HP:0000978	Bruising susceptibility	165	AEBP1	OMIM:618000
HP:0000978	Bruising susceptibility	165	AEBP1	ORPHA:536532
HP:0000978	Bruising susceptibility	113189	CHST14	ORPHA:2953
HP:0000978	Bruising susceptibility	113189	CHST14	OMIM:601776
HP:0000978	Bruising susceptibility	29940	DSE	ORPHA:2953
HP:0000978	Bruising susceptibility	51206	GP6	OMIM:614201
HP:0000978	Bruising susceptibility	4352	MPL	ORPHA:729
HP:0000978	Bruising susceptibility	3717	JAK2	ORPHA:729
HP:0000978	Bruising susceptibility	54790	TET2	ORPHA:729
HP:0000978	Bruising susceptibility	5831	PYCR1	OMIM:612940
HP:0000978	Bruising susceptibility	3674	ITGA2B	ORPHA:849
HP:0000978	Bruising susceptibility	3674	ITGA2B	OMIM:273800
HP:0000978	Bruising susceptibility	3690	ITGB3	ORPHA:849
HP:0000978	Bruising susceptibility	3690	ITGB3	OMIM:619267
HP:0000978	Bruising susceptibility	90993	CREB3L1	OMIM:616229
HP:0000978	Bruising susceptibility	2159	F10	ORPHA:328
HP:0000978	Bruising susceptibility	9103	FCGR2C	ORPHA:3002
HP:0000978	Bruising susceptibility	2155	F7	ORPHA:327
HP:0000978	Bruising susceptibility	2155	F7	OMIM:227500
HP:0000978	Bruising susceptibility	2153	F5	ORPHA:326
HP:0000978	Bruising susceptibility	2153	F5	OMIM:227400
HP:0000978	Bruising susceptibility	1277	COL1A1	ORPHA:287
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:130060
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:619115
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:166200
HP:0000978	Bruising susceptibility	1289	COL5A1	ORPHA:287
HP:0000978	Bruising susceptibility	1289	COL5A1	OMIM:130000
HP:0000978	Bruising susceptibility	1290	COL5A2	ORPHA:287
HP:0000978	Bruising susceptibility	1290	COL5A2	OMIM:130010
HP:0000978	Bruising susceptibility	861	RUNX1	OMIM:601399
HP:0000978	Bruising susceptibility	4627	MYH9	OMIM:155100
HP:0000978	Bruising susceptibility	4627	MYH9	ORPHA:182050
HP:0000978	Bruising susceptibility	4784	NFIX	ORPHA:561
HP:0000978	Bruising susceptibility	22852	ANKRD26	OMIM:188000
HP:0000978	Bruising susceptibility	9509	ADAMTS2	OMIM:225410
HP:0000978	Bruising susceptibility	2178	FANCE	OMIM:600901
HP:0000978	Bruising susceptibility	5339	PLEC	OMIM:131950
HP:0000978	Bruising susceptibility	11107	PRDM5	OMIM:614170
HP:0000978	Bruising susceptibility	11107	PRDM5	ORPHA:90354
HP:0000978	Bruising susceptibility	633	BGN	OMIM:300989
HP:0000978	Bruising susceptibility	4507	MTAP	OMIM:112250
HP:0000978	Bruising susceptibility	8985	PLOD3	OMIM:612394
HP:0000978	Bruising susceptibility	5328	PLAU	OMIM:601709
HP:0000978	Bruising susceptibility	342618	SLFN14	OMIM:616913
HP:0000978	Bruising susceptibility	9049	AIP	OMIM:219090
HP:0000978	Bruising susceptibility	200734	SPRED2	OMIM:619745
HP:0000978	Bruising susceptibility	2200	FBN1	OMIM:616914
HP:0000978	Bruising susceptibility	2200	FBN1	ORPHA:91387
HP:0000978	Bruising susceptibility	2316	FLNA	ORPHA:75497
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:193400
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:613554
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:277480
HP:0000978	Bruising susceptibility	716	C1S	OMIM:617174
HP:0000978	Bruising susceptibility	10526	IPO8	OMIM:619472
HP:0000978	Bruising susceptibility	10526	IPO8	ORPHA:60030
HP:0000978	Bruising susceptibility	5566	PRKACA	OMIM:615830
HP:0000978	Bruising susceptibility	5566	PRKACA	ORPHA:189439
HP:0000978	Bruising susceptibility	2677	GGCX	OMIM:277450
HP:0000978	Bruising susceptibility	8622	PDE8B	ORPHA:189439
HP:0000978	Bruising susceptibility	540	ATP7B	ORPHA:905
HP:0000978	Bruising susceptibility	3257	HPS1	OMIM:203300
HP:0000978	Bruising susceptibility	7454	WAS	ORPHA:906
HP:0000978	Bruising susceptibility	7454	WAS	OMIM:313900
HP:0000978	Bruising susceptibility	7456	WIPF1	ORPHA:906
HP:0000978	Bruising susceptibility	64805	P2RY12	OMIM:609821
HP:0000978	Bruising susceptibility	3845	KRAS	OMIM:609942
HP:0000978	Bruising susceptibility	2624	GATA2	ORPHA:3226
HP:0000978	Bruising susceptibility	5345	SERPINF2	ORPHA:79
HP:0000978	Bruising susceptibility	5345	SERPINF2	OMIM:262850
HP:0000978	Bruising susceptibility	715	C1R	OMIM:130080
HP:0000978	Bruising susceptibility	89781	HPS4	OMIM:614073
HP:0000978	Bruising susceptibility	11234	HPS5	OMIM:614074
HP:0000978	Bruising susceptibility	2934	GSN	ORPHA:85448
HP:0000978	Bruising susceptibility	84343	HPS3	OMIM:614072
HP:0000978	Bruising susceptibility	388552	BLOC1S3	OMIM:614077
HP:0000978	Bruising susceptibility	5594	MAPK1	OMIM:619087
HP:0000978	Bruising susceptibility	3998	LMAN1	ORPHA:35909
HP:0000978	Bruising susceptibility	90411	MCFD2	ORPHA:35909
HP:0000978	Bruising susceptibility	200931	SLC51A	OMIM:619484
HP:0000978	Bruising susceptibility	79803	HPS6	OMIM:614075
HP:0000978	Bruising susceptibility	84062	DTNBP1	OMIM:614076
HP:0000978	Bruising susceptibility	6786	STIM1	OMIM:185070
HP:0000978	Bruising susceptibility	79798	ARMC5	ORPHA:189427
HP:0000978	Bruising susceptibility	84627	ZNF469	ORPHA:90354
HP:0000978	Bruising susceptibility	23387	SIK3	OMIM:618162
HP:0000978	Bruising susceptibility	126792	B3GALT6	ORPHA:536467
HP:0000978	Bruising susceptibility	11117	EMILIN1	OMIM:620080
HP:0000978	Bruising susceptibility	2177	FANCD2	OMIM:227646
HP:0000978	Bruising susceptibility	2176	FANCC	OMIM:227645
HP:0000978	Bruising susceptibility	81031	SLC2A10	OMIM:208050
HP:0000978	Bruising susceptibility	6915	TBXA2R	OMIM:614009
HP:0000978	Bruising susceptibility	2147	F2	OMIM:613679
HP:0000978	Bruising susceptibility	60681	FKBP10	OMIM:610968
HP:0000978	Bruising susceptibility	4914	NTRK1	ORPHA:642
HP:0000978	Bruising susceptibility	6774	STAT3	ORPHA:520
HP:0000978	Bruising susceptibility	5371	PML	ORPHA:520
HP:0000978	Bruising susceptibility	5914	RARA	ORPHA:520
HP:0000978	Bruising susceptibility	359948	IRF2BP2	ORPHA:520
HP:0000978	Bruising susceptibility	81608	FIP1L1	ORPHA:520
HP:0000978	Bruising susceptibility	4869	NPM1	ORPHA:520
HP:0000978	Bruising susceptibility	54880	BCOR	ORPHA:520
HP:0000978	Bruising susceptibility	64859	NABP1	ORPHA:520
HP:0000978	Bruising susceptibility	6777	STAT5B	ORPHA:520
HP:0000978	Bruising susceptibility	4926	NUMA1	ORPHA:520
HP:0000978	Bruising susceptibility	7704	ZBTB16	ORPHA:520
HP:0000978	Bruising susceptibility	79718	TBL1XR1	ORPHA:520
HP:0000978	Bruising susceptibility	91252	SLC39A13	ORPHA:157965
HP:0000978	Bruising susceptibility	91252	SLC39A13	OMIM:612350
HP:0000978	Bruising susceptibility	7043	TGFB3	OMIM:615582
HP:0000978	Bruising susceptibility	7043	TGFB3	ORPHA:91387
HP:0000978	Bruising susceptibility	7046	TGFBR1	ORPHA:60030
HP:0000978	Bruising susceptibility	7046	TGFBR1	ORPHA:91387
HP:0000978	Bruising susceptibility	7048	TGFBR2	ORPHA:60030
HP:0000978	Bruising susceptibility	7048	TGFBR2	ORPHA:91387
HP:0000978	Bruising susceptibility	5167	ENPP1	ORPHA:758
HP:0000978	Bruising susceptibility	368	ABCC6	ORPHA:758
HP:0000978	Bruising susceptibility	7042	TGFB2	OMIM:614816
HP:0000978	Bruising susceptibility	7042	TGFB2	ORPHA:91387
HP:0000978	Bruising susceptibility	6654	SOS1	OMIM:610733
HP:0000978	Bruising susceptibility	4629	MYH11	ORPHA:91387
HP:0000978	Bruising susceptibility	4015	LOX	ORPHA:91387
HP:0000978	Bruising susceptibility	4087	SMAD2	ORPHA:91387
HP:0000978	Bruising susceptibility	4089	SMAD4	ORPHA:91387
HP:0000978	Bruising susceptibility	59	ACTA2	ORPHA:91387
HP:0000978	Bruising susceptibility	5592	PRKG1	ORPHA:91387
HP:0000978	Bruising susceptibility	2301	FOXE3	ORPHA:91387
HP:0000978	Bruising susceptibility	4144	MAT2A	ORPHA:91387
HP:0000978	Bruising susceptibility	23493	HEY2	ORPHA:91387
HP:0000978	Bruising susceptibility	8076	MFAP5	ORPHA:91387
HP:0000978	Bruising susceptibility	4638	MYLK	ORPHA:91387
HP:0000978	Bruising susceptibility	2006	ELN	ORPHA:91387
HP:0000978	Bruising susceptibility	5604	MAP2K1	OMIM:163950
HP:0000978	Bruising susceptibility	5781	PTPN11	OMIM:163950
HP:0000978	Bruising susceptibility	2629	GBA1	ORPHA:77259
HP:0000978	Bruising susceptibility	950	SCARB2	ORPHA:77259
HP:0000978	Bruising susceptibility	8328	GFI1B	OMIM:187900
HP:0000960	Sacral dimple	2137	EXTL3	ORPHA:508533
HP:0000960	Sacral dimple	10682	EBP	ORPHA:401973
HP:0000960	Sacral dimple	10682	EBP	OMIM:300960
HP:0000960	Sacral dimple	8367	H4C5	OMIM:619950
HP:0000960	Sacral dimple	54892	NCAPG2	OMIM:618460
HP:0000960	Sacral dimple	1859	DYRK1A	ORPHA:268261
HP:0000960	Sacral dimple	5648	MASP1	OMIM:257920
HP:0000960	Sacral dimple	145173	B3GLCT	ORPHA:709
HP:0000960	Sacral dimple	6650	CAPN15	OMIM:619318
HP:0000960	Sacral dimple	85358	SHANK3	OMIM:606232
HP:0000960	Sacral dimple	85358	SHANK3	ORPHA:48652
HP:0000960	Sacral dimple	57216	VANGL2	OMIM:182940
HP:0000960	Sacral dimple	6347	CCL2	OMIM:182940
HP:0000960	Sacral dimple	81839	VANGL1	OMIM:182940
HP:0000960	Sacral dimple	6862	TBXT	OMIM:182940
HP:0000960	Sacral dimple	80199	FUZ	OMIM:182940
HP:0000960	Sacral dimple	79783	SUGCT	ORPHA:35706
HP:0000960	Sacral dimple	91179	SCARF2	OMIM:600920
HP:0000960	Sacral dimple	55209	SETD5	OMIM:615761
HP:0000960	Sacral dimple	1855	DVL1	OMIM:616331
HP:0000960	Sacral dimple	1855	DVL1	ORPHA:3107
HP:0000960	Sacral dimple	1855	DVL1	OMIM:180700
HP:0000960	Sacral dimple	4953	ODC1	ORPHA:544488
HP:0000960	Sacral dimple	4297	KMT2A	OMIM:605130
HP:0000960	Sacral dimple	4297	KMT2A	ORPHA:319182
HP:0000960	Sacral dimple	2188	FANCF	OMIM:603467
HP:0000960	Sacral dimple	1725	DHPS	OMIM:618480
HP:0000960	Sacral dimple	6023	RMRP	ORPHA:175
HP:0000960	Sacral dimple	56992	KIF15	ORPHA:261323
HP:0000960	Sacral dimple	3190	HNRNPK	OMIM:616580
HP:0000960	Sacral dimple	57492	ARID1B	OMIM:135900
HP:0000960	Sacral dimple	10584	COLEC10	OMIM:248340
HP:0000960	Sacral dimple	818	CAMK2G	OMIM:618522
HP:0000960	Sacral dimple	284058	KANSL1	ORPHA:363958
HP:0000960	Sacral dimple	284058	KANSL1	ORPHA:363965
HP:0000960	Sacral dimple	284058	KANSL1	OMIM:610443
HP:0000960	Sacral dimple	3899	AFF3	OMIM:619297
HP:0000960	Sacral dimple	54496	PRMT7	OMIM:617157
HP:0000960	Sacral dimple	7468	NSD2	OMIM:619695
HP:0000960	Sacral dimple	7468	NSD2	ORPHA:280
HP:0000960	Sacral dimple	7468	NSD2	OMIM:194190
HP:0000960	Sacral dimple	9968	MED12	ORPHA:93932
HP:0000960	Sacral dimple	9968	MED12	OMIM:305450
HP:0000960	Sacral dimple	64359	NXN	ORPHA:1507
HP:0000960	Sacral dimple	4920	ROR2	ORPHA:1507
HP:0000960	Sacral dimple	3209	HOXA13	ORPHA:2438
HP:0000960	Sacral dimple	54539	NDUFB11	ORPHA:2556
HP:0000960	Sacral dimple	1349	COX7B	ORPHA:2556
HP:0000960	Sacral dimple	3052	HCCS	ORPHA:2556
HP:0000960	Sacral dimple	1717	DHCR7	OMIM:270400
HP:0000960	Sacral dimple	5422	POLA1	OMIM:301030
HP:0000960	Sacral dimple	9496	TBX4	ORPHA:261279
HP:0000960	Sacral dimple	10815	CPLX1	ORPHA:280
HP:0000960	Sacral dimple	10815	CPLX1	OMIM:194190
HP:0000960	Sacral dimple	54872	PIGG	ORPHA:280
HP:0000960	Sacral dimple	7469	NELFA	ORPHA:280
HP:0000960	Sacral dimple	1487	CTBP1	ORPHA:280
HP:0000960	Sacral dimple	1487	CTBP1	OMIM:194190
HP:0000960	Sacral dimple	3954	LETM1	ORPHA:280
HP:0000960	Sacral dimple	3954	LETM1	OMIM:194190
HP:0000960	Sacral dimple	80776	B9D2	OMIM:614175
HP:0000960	Sacral dimple	51305	KCNK9	ORPHA:166108
HP:0000960	Sacral dimple	51305	KCNK9	OMIM:612292
HP:0000960	Sacral dimple	2783	GNB2	OMIM:619503
HP:0000960	Sacral dimple	79633	FAT4	OMIM:615546
HP:0000960	Sacral dimple	8642	DCHS1	OMIM:601390
HP:0000960	Sacral dimple	53834	FGFRL1	OMIM:194190
HP:0000960	Sacral dimple	10522	DEAF1	OMIM:615828
HP:0000960	Sacral dimple	165	AEBP1	ORPHA:536532
HP:0000960	Sacral dimple	3981	LIG4	ORPHA:235
HP:0000960	Sacral dimple	54888	NSUN2	ORPHA:235
HP:0000960	Sacral dimple	10664	CTCF	ORPHA:363611
HP:0000960	Sacral dimple	10664	CTCF	OMIM:615502
HP:0000960	Sacral dimple	56006	SMG9	OMIM:619995
HP:0000960	Sacral dimple	8558	CDK10	OMIM:617694
HP:0000960	Sacral dimple	51633	OTUD6B	OMIM:617452
HP:0000960	Sacral dimple	51633	OTUD6B	ORPHA:505237
HP:0000960	Sacral dimple	1857	DVL3	ORPHA:3107
HP:0000960	Sacral dimple	1857	DVL3	OMIM:616894
HP:0000960	Sacral dimple	7474	WNT5A	ORPHA:3107
HP:0000960	Sacral dimple	7474	WNT5A	OMIM:180700
HP:0000960	Sacral dimple	2535	FZD2	ORPHA:3107
HP:0000960	Sacral dimple	8239	USP9X	ORPHA:480880
HP:0000960	Sacral dimple	8239	USP9X	OMIM:300968
HP:0000960	Sacral dimple	6804	STX1A	ORPHA:904
HP:0000960	Sacral dimple	7461	CLIP2	ORPHA:904
HP:0000960	Sacral dimple	84277	DNAJC30	ORPHA:904
HP:0000960	Sacral dimple	8468	FKBP6	ORPHA:904
HP:0000960	Sacral dimple	5982	RFC2	ORPHA:904
HP:0000960	Sacral dimple	2969	GTF2I	ORPHA:904
HP:0000960	Sacral dimple	3984	LIMK1	ORPHA:904
HP:0000960	Sacral dimple	9569	GTF2IRD1	ORPHA:904
HP:0000960	Sacral dimple	155382	VPS37D	ORPHA:904
HP:0000960	Sacral dimple	155368	METTL27	ORPHA:904
HP:0000960	Sacral dimple	114049	BUD23	ORPHA:904
HP:0000960	Sacral dimple	7458	EIF4H	ORPHA:904
HP:0000960	Sacral dimple	84163	GTF2IRD2	ORPHA:904
HP:0000960	Sacral dimple	9275	BCL7B	ORPHA:904
HP:0000960	Sacral dimple	26608	TBL2	ORPHA:904
HP:0000960	Sacral dimple	653361	NCF1	ORPHA:904
HP:0000960	Sacral dimple	135886	TMEM270	ORPHA:904
HP:0000960	Sacral dimple	51085	MLXIPL	ORPHA:904
HP:0000960	Sacral dimple	9031	BAZ1B	ORPHA:904
HP:0000960	Sacral dimple	2006	ELN	ORPHA:904
HP:0000960	Sacral dimple	6134	RPL10	ORPHA:459070
HP:0000960	Sacral dimple	286	ANK1	ORPHA:251066
HP:0000960	Sacral dimple	54499	TMCO1	OMIM:213980
HP:0000960	Sacral dimple	8405	SPOP	OMIM:618828
HP:0000960	Sacral dimple	23137	SMC5	OMIM:620185
HP:0000960	Sacral dimple	23405	DICER1	OMIM:618272
HP:0000960	Sacral dimple	2187	FANCB	OMIM:314390
HP:0000960	Sacral dimple	7547	ZIC3	OMIM:314390
HP:0000960	Sacral dimple	8314	BAP1	OMIM:619762
HP:0000960	Sacral dimple	6872	TAF1	OMIM:300966
HP:0000960	Sacral dimple	374879	ZNF699	OMIM:619488
HP:0000960	Sacral dimple	51715	RAB23	OMIM:201000
HP:0000960	Sacral dimple	64093	SMOC1	OMIM:206920
HP:0000960	Sacral dimple	79971	WLS	OMIM:619648
HP:0000960	Sacral dimple	6925	TCF4	OMIM:610954
HP:0000960	Sacral dimple	3090	HIC1	ORPHA:531
HP:0000960	Sacral dimple	5048	PAFAH1B1	ORPHA:531
HP:0000960	Sacral dimple	7531	YWHAE	ORPHA:531
HP:0000960	Sacral dimple	4123	MAN2C1	OMIM:619775
HP:0000960	Sacral dimple	3977	LIFR	ORPHA:3206
HP:0000960	Sacral dimple	57479	PRR12	OMIM:619539
HP:0000960	Sacral dimple	5718	PSMD12	OMIM:617516
HP:0000960	Sacral dimple	55191	NADSYN1	OMIM:618845
HP:0000960	Sacral dimple	10225	CD96	ORPHA:1308
HP:0000960	Sacral dimple	23299	BICD2	OMIM:618291
HP:0000960	Sacral dimple	171023	ASXL1	OMIM:605039
HP:0000961	Cyanosis	94	ACVRL1	OMIM:600376
HP:0000961	Cyanosis	137814	NKX2-6	ORPHA:3384
HP:0000961	Cyanosis	23129	PLXND1	ORPHA:3384
HP:0000961	Cyanosis	51422	PRKAG2	OMIM:261740
HP:0000961	Cyanosis	4000	LMNA	OMIM:619793
HP:0000961	Cyanosis	4000	LMNA	ORPHA:740
HP:0000961	Cyanosis	5250	SLC25A3	ORPHA:91130
HP:0000961	Cyanosis	5250	SLC25A3	OMIM:610773
HP:0000961	Cyanosis	6334	SCN8A	ORPHA:306
HP:0000961	Cyanosis	112476	PRRT2	ORPHA:306
HP:0000961	Cyanosis	3785	KCNQ2	ORPHA:306
HP:0000961	Cyanosis	3786	KCNQ3	ORPHA:306
HP:0000961	Cyanosis	3048	HBG2	OMIM:613977
HP:0000961	Cyanosis	6440	SFTPC	OMIM:610913
HP:0000961	Cyanosis	6440	SFTPC	ORPHA:70587
HP:0000961	Cyanosis	6439	SFTPB	OMIM:265120
HP:0000961	Cyanosis	6439	SFTPB	ORPHA:70587
HP:0000961	Cyanosis	7547	ZIC3	OMIM:306955
HP:0000961	Cyanosis	2022	ENG	OMIM:187300
HP:0000961	Cyanosis	5105	PCK1	OMIM:261680
HP:0000961	Cyanosis	21	ABCA3	OMIM:610921
HP:0000961	Cyanosis	21	ABCA3	ORPHA:70587
HP:0000961	Cyanosis	118856	MMP21	OMIM:616749
HP:0000961	Cyanosis	83480	PUS3	ORPHA:488627
HP:0000961	Cyanosis	1528	CYB5A	OMIM:250790
HP:0000961	Cyanosis	1528	CYB5A	ORPHA:621
HP:0000961	Cyanosis	2898	GRIK2	OMIM:619580
HP:0000961	Cyanosis	440275	EIF2AK4	ORPHA:199241
HP:0000961	Cyanosis	788	SLC25A20	ORPHA:159
HP:0000961	Cyanosis	7092	TLL1	ORPHA:99106
HP:0000961	Cyanosis	7092	TLL1	ORPHA:99103
HP:0000961	Cyanosis	3028	HSD17B10	ORPHA:391428
HP:0000961	Cyanosis	5337	PLD1	OMIM:212093
HP:0000961	Cyanosis	57057	TBX20	ORPHA:99103
HP:0000961	Cyanosis	4624	MYH6	ORPHA:99103
HP:0000961	Cyanosis	1482	NKX2-5	ORPHA:99103
HP:0000961	Cyanosis	70	ACTC1	ORPHA:99103
HP:0000961	Cyanosis	10370	CITED2	ORPHA:99103
HP:0000961	Cyanosis	2626	GATA4	ORPHA:99103
HP:0000961	Cyanosis	2627	GATA6	ORPHA:99103
HP:0000961	Cyanosis	1727	CYB5R3	OMIM:250800
HP:0000961	Cyanosis	1727	CYB5R3	ORPHA:621
HP:0000961	Cyanosis	55975	KLHL7	OMIM:617055
HP:0000961	Cyanosis	3043	HBB	OMIM:617971
HP:0000961	Cyanosis	5167	ENPP1	ORPHA:51608
HP:0000961	Cyanosis	368	ABCC6	ORPHA:51608
HP:0000961	Cyanosis	3039	HBA1	OMIM:617973
HP:0000961	Cyanosis	4519	MT-CYB	ORPHA:137675
HP:0000961	Cyanosis	8021	NUP214	OMIM:618426
HP:0000961	Cyanosis	79770	TXNDC15	OMIM:619879
HP:0000961	Cyanosis	3123	HLA-DRB1	ORPHA:747
HP:0000961	Cyanosis	10269	ZMPSTE24	ORPHA:740
HP:0000961	Cyanosis	60482	SLC5A7	ORPHA:98914
HP:0000961	Cyanosis	4649	MYO9A	ORPHA:98914
HP:0000961	Cyanosis	1305	COL13A1	ORPHA:98914
HP:0000961	Cyanosis	1305	COL13A1	ORPHA:98913
HP:0000961	Cyanosis	1103	CHAT	ORPHA:98914
HP:0000961	Cyanosis	6576	SLC25A1	ORPHA:98914
HP:0000961	Cyanosis	6843	VAMP1	ORPHA:98914
HP:0000961	Cyanosis	375790	AGRN	ORPHA:98914
HP:0000961	Cyanosis	375790	AGRN	ORPHA:98913
HP:0000961	Cyanosis	127833	SYT2	ORPHA:98914
HP:0000961	Cyanosis	6572	SLC18A3	ORPHA:98914
HP:0000961	Cyanosis	6572	SLC18A3	OMIM:617239
HP:0000961	Cyanosis	6616	SNAP25	ORPHA:98914
HP:0000961	Cyanosis	6329	SCN4A	ORPHA:98913
HP:0000961	Cyanosis	1134	CHRNA1	ORPHA:98913
HP:0000961	Cyanosis	4038	LRP4	ORPHA:98913
HP:0000961	Cyanosis	1140	CHRNB1	ORPHA:98913
HP:0000961	Cyanosis	1144	CHRND	ORPHA:98913
HP:0000961	Cyanosis	1145	CHRNE	ORPHA:98913
HP:0000961	Cyanosis	4593	MUSK	ORPHA:98913
HP:0000961	Cyanosis	5913	RAPSN	ORPHA:98913
HP:0000961	Cyanosis	221264	AK9	ORPHA:98913
HP:0000961	Cyanosis	285489	DOK7	ORPHA:98913
HP:0000961	Cyanosis	8241	RBM10	ORPHA:2886
HP:0000961	Cyanosis	4724	NDUFS4	OMIM:252010
HP:0000961	Cyanosis	54916	TMEM260	OMIM:617478
HP:0000961	Cyanosis	10568	SLC34A2	ORPHA:60025
HP:0000961	Cyanosis	80199	FUZ	ORPHA:1136
HP:0000961	Cyanosis	84705	GTPBP3	ORPHA:444013
HP:0000961	Cyanosis	6513	SLC2A1	ORPHA:71277
HP:0000961	Cyanosis	23474	ETHE1	ORPHA:51188
HP:0000961	Cyanosis	23474	ETHE1	OMIM:602473
HP:0000961	Cyanosis	8518	ELP1	OMIM:223900
HP:0000961	Cyanosis	8518	ELP1	ORPHA:1764
HP:0000961	Cyanosis	6197	RPS6KA3	OMIM:303600
HP:0000961	Cyanosis	189	AGXT	OMIM:259900
HP:0000961	Cyanosis	2517	FUCA1	ORPHA:349
HP:0000961	Cyanosis	6925	TCF4	ORPHA:2896
HP:0000961	Cyanosis	4598	MVK	ORPHA:343
HP:0000961	Cyanosis	1277	COL1A1	ORPHA:287
HP:0000961	Cyanosis	1289	COL5A1	ORPHA:287
HP:0000961	Cyanosis	1290	COL5A2	ORPHA:287
HP:0000961	Cyanosis	11277	TREX1	OMIM:225750
HP:0000961	Cyanosis	11277	TREX1	ORPHA:51
HP:0000961	Cyanosis	10801	SEPTIN9	ORPHA:2901
HP:0000961	Cyanosis	10535	RNASEH2A	ORPHA:51
HP:0000961	Cyanosis	84153	RNASEH2C	ORPHA:51
HP:0000961	Cyanosis	25939	SAMHD1	ORPHA:51
HP:0000961	Cyanosis	79621	RNASEH2B	ORPHA:51
HP:0000961	Cyanosis	103	ADAR	ORPHA:51
HP:0000961	Cyanosis	100147744	RNU7-1	ORPHA:51
HP:0000961	Cyanosis	134353	LSM11	ORPHA:51
HP:0000961	Cyanosis	64135	IFIH1	ORPHA:51
HP:0000961	Cyanosis	5077	PAX3	ORPHA:896
HP:0000961	Cyanosis	171019	ADAMTS19	OMIM:620067
HP:0000961	Cyanosis	29968	PSAT1	ORPHA:284417
HP:0000961	Cyanosis	29968	PSAT1	OMIM:610992
HP:0000961	Cyanosis	6335	SCN9A	ORPHA:33069
HP:0000961	Cyanosis	6326	SCN2A	ORPHA:33069
HP:0000961	Cyanosis	2554	GABRA1	ORPHA:33069
HP:0000961	Cyanosis	6323	SCN1A	ORPHA:33069
HP:0000961	Cyanosis	6324	SCN1B	ORPHA:33069
HP:0000961	Cyanosis	57526	PCDH19	ORPHA:33069
HP:0000961	Cyanosis	2566	GABRG2	ORPHA:33069
HP:0000962	Hyperkeratosis	9509	ADAMTS2	OMIM:225410
HP:0000962	Hyperkeratosis	8036	SHOC2	OMIM:607721
HP:0000962	Hyperkeratosis	8216	LZTR1	OMIM:616564
HP:0000962	Hyperkeratosis	8216	LZTR1	OMIM:605275
HP:0000962	Hyperkeratosis	25923	ATL3	OMIM:615632
HP:0000962	Hyperkeratosis	25923	ATL3	ORPHA:36386
HP:0000962	Hyperkeratosis	100151683	RNU4ATAC	OMIM:210710
HP:0000962	Hyperkeratosis	6016	RIT1	OMIM:615355
HP:0000962	Hyperkeratosis	4254	KITLG	OMIM:145250
HP:0000962	Hyperkeratosis	3643	INSR	ORPHA:2297
HP:0000962	Hyperkeratosis	3643	INSR	OMIM:246200
HP:0000962	Hyperkeratosis	3643	INSR	ORPHA:508
HP:0000962	Hyperkeratosis	9526	MPDU1	OMIM:609180
HP:0000962	Hyperkeratosis	79755	ZNF750	OMIM:610227
HP:0000962	Hyperkeratosis	2629	GBA1	OMIM:608013
HP:0000962	Hyperkeratosis	3106	HLA-B	ORPHA:29207
HP:0000962	Hyperkeratosis	23586	RIGI	OMIM:616298
HP:0000962	Hyperkeratosis	63916	ELMO2	ORPHA:3019
HP:0000962	Hyperkeratosis	224	ALDH3A2	ORPHA:816
HP:0000962	Hyperkeratosis	4758	NEU1	ORPHA:812
HP:0000962	Hyperkeratosis	55780	ERMARD	ORPHA:75857
HP:0000962	Hyperkeratosis	27032	ATP2C1	ORPHA:2841
HP:0000962	Hyperkeratosis	164656	TMPRSS6	ORPHA:209981
HP:0000962	Hyperkeratosis	284058	KANSL1	ORPHA:363958
HP:0000962	Hyperkeratosis	284058	KANSL1	ORPHA:363965
HP:0000962	Hyperkeratosis	50814	NSDHL	OMIM:308050
HP:0000962	Hyperkeratosis	64834	ELOVL1	OMIM:618527
HP:0000962	Hyperkeratosis	102	ADAM10	OMIM:615537
HP:0000962	Hyperkeratosis	2717	GLA	ORPHA:324
HP:0000962	Hyperkeratosis	6768	ST14	OMIM:602400
HP:0000962	Hyperkeratosis	3265	HRAS	ORPHA:3071
HP:0000962	Hyperkeratosis	2068	ERCC2	OMIM:601675
HP:0000962	Hyperkeratosis	2068	ERCC2	ORPHA:910
HP:0000962	Hyperkeratosis	23086	EXPH5	OMIM:615028
HP:0000962	Hyperkeratosis	84818	IL17RC	ORPHA:1334
HP:0000962	Hyperkeratosis	64581	CLEC7A	ORPHA:1334
HP:0000962	Hyperkeratosis	23765	IL17RA	ORPHA:1334
HP:0000962	Hyperkeratosis	10758	TRAF3IP2	ORPHA:1334
HP:0000962	Hyperkeratosis	112744	IL17F	ORPHA:1334
HP:0000962	Hyperkeratosis	151516	ASPRV1	OMIM:146750
HP:0000962	Hyperkeratosis	151516	ASPRV1	ORPHA:313
HP:0000962	Hyperkeratosis	1001	CDH3	ORPHA:1573
HP:0000962	Hyperkeratosis	643418	LIPN	ORPHA:313
HP:0000962	Hyperkeratosis	643418	LIPN	OMIM:613943
HP:0000962	Hyperkeratosis	10558	SPTLC1	ORPHA:36386
HP:0000962	Hyperkeratosis	9517	SPTLC2	ORPHA:36386
HP:0000962	Hyperkeratosis	51062	ATL1	ORPHA:36386
HP:0000962	Hyperkeratosis	134218	DNAJC21	OMIM:617052
HP:0000962	Hyperkeratosis	1041	CDSN	ORPHA:90368
HP:0000962	Hyperkeratosis	10013	HDAC6	ORPHA:163966
HP:0000962	Hyperkeratosis	7486	WRN	ORPHA:902
HP:0000962	Hyperkeratosis	8517	IKBKG	ORPHA:464
HP:0000962	Hyperkeratosis	8517	IKBKG	OMIM:308300
HP:0000962	Hyperkeratosis	2312	FLG	ORPHA:461
HP:0000962	Hyperkeratosis	3557	IL1RN	OMIM:612852
HP:0000962	Hyperkeratosis	10654	PMVK	ORPHA:735
HP:0000962	Hyperkeratosis	4598	MVK	ORPHA:735
HP:0000962	Hyperkeratosis	57165	GJC2	ORPHA:79452
HP:0000962	Hyperkeratosis	1303	COL12A1	ORPHA:610
HP:0000962	Hyperkeratosis	1893	ECM1	ORPHA:530
HP:0000962	Hyperkeratosis	1893	ECM1	OMIM:247100
HP:0000962	Hyperkeratosis	57609	DIP2B	OMIM:136630
HP:0000962	Hyperkeratosis	5422	POLA1	OMIM:301220
HP:0000962	Hyperkeratosis	4668	NAGA	ORPHA:79280
HP:0000962	Hyperkeratosis	4668	NAGA	OMIM:609242
HP:0000962	Hyperkeratosis	4668	NAGA	ORPHA:79279
HP:0000962	Hyperkeratosis	5271	SERPINB8	OMIM:617115
HP:0000962	Hyperkeratosis	1174	AP1S1	ORPHA:171851
HP:0000962	Hyperkeratosis	2744	GLS	OMIM:618339
HP:0000962	Hyperkeratosis	29969	MDFIC	OMIM:620014
HP:0000962	Hyperkeratosis	7299	TYR	ORPHA:79431
HP:0000962	Hyperkeratosis	7507	XPA	ORPHA:910
HP:0000962	Hyperkeratosis	2071	ERCC3	ORPHA:910
HP:0000962	Hyperkeratosis	7508	XPC	ORPHA:910
HP:0000962	Hyperkeratosis	1643	DDB2	ORPHA:910
HP:0000962	Hyperkeratosis	2072	ERCC4	ORPHA:910
HP:0000962	Hyperkeratosis	2073	ERCC5	ORPHA:910
HP:0000962	Hyperkeratosis	7424	VEGFC	OMIM:615907
HP:0000962	Hyperkeratosis	5317	PKP1	OMIM:604536
HP:0000962	Hyperkeratosis	7051	TGM1	OMIM:242300
HP:0000962	Hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0000962	Hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0000962	Hyperkeratosis	55651	NHP2	OMIM:224230
HP:0000962	Hyperkeratosis	55505	NOP10	OMIM:224230
HP:0000962	Hyperkeratosis	1075	CTSC	OMIM:170650
HP:0000962	Hyperkeratosis	1075	CTSC	OMIM:245000
HP:0000962	Hyperkeratosis	1075	CTSC	ORPHA:678
HP:0000962	Hyperkeratosis	121391	KRT74	OMIM:194300
HP:0000962	Hyperkeratosis	3248	HPGD	OMIM:259100
HP:0000962	Hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0000962	Hyperkeratosis	79719	AAGAB	ORPHA:79501
HP:0000962	Hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0000962	Hyperkeratosis	57511	COG6	ORPHA:363523
HP:0000962	Hyperkeratosis	57511	COG6	OMIM:615328
HP:0000962	Hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0000962	Hyperkeratosis	10651	MTX2	OMIM:619127
HP:0000962	Hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0000962	Hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0000962	Hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0000962	Hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0000962	Hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0000962	Hyperkeratosis	7015	TERT	OMIM:613989
HP:0000962	Hyperkeratosis	5339	PLEC	OMIM:226670
HP:0000962	Hyperkeratosis	9487	PIGL	OMIM:280000
HP:0000962	Hyperkeratosis	8086	AAAS	OMIM:231550
HP:0000962	Hyperkeratosis	9896	FIG4	OMIM:216340
HP:0000962	Hyperkeratosis	7286	TUFT1	OMIM:607655
HP:0000962	Hyperkeratosis	667	DST	OMIM:615425
HP:0000962	Hyperkeratosis	2531	KDSR	OMIM:617526
HP:0000962	Hyperkeratosis	9015	TAF1A	ORPHA:154
HP:0000962	Hyperkeratosis	5663	PSEN1	ORPHA:154
HP:0000962	Hyperkeratosis	6389	SDHA	ORPHA:154
HP:0000962	Hyperkeratosis	7112	TMPO	ORPHA:154
HP:0000962	Hyperkeratosis	9464	HAND2	ORPHA:154
HP:0000962	Hyperkeratosis	4625	MYH7	ORPHA:154
HP:0000962	Hyperkeratosis	88	ACTN2	ORPHA:154
HP:0000962	Hyperkeratosis	10486	CAP2	ORPHA:154
HP:0000962	Hyperkeratosis	10060	ABCC9	ORPHA:154
HP:0000962	Hyperkeratosis	7168	TPM1	ORPHA:154
HP:0000962	Hyperkeratosis	7414	VCL	ORPHA:154
HP:0000962	Hyperkeratosis	70	ACTC1	ORPHA:154
HP:0000962	Hyperkeratosis	27063	ANKRD1	ORPHA:154
HP:0000962	Hyperkeratosis	8048	CSRP3	ORPHA:154
HP:0000962	Hyperkeratosis	1410	CRYAB	ORPHA:154
HP:0000962	Hyperkeratosis	7139	TNNT2	ORPHA:154
HP:0000962	Hyperkeratosis	1829	DSG2	ORPHA:154
HP:0000962	Hyperkeratosis	3910	LAMA4	ORPHA:154
HP:0000962	Hyperkeratosis	63976	PRDM16	ORPHA:154
HP:0000962	Hyperkeratosis	7273	TTN	ORPHA:154
HP:0000962	Hyperkeratosis	10587	TXNRD2	ORPHA:154
HP:0000962	Hyperkeratosis	9531	BAG3	ORPHA:154
HP:0000962	Hyperkeratosis	5350	PLN	ORPHA:154
HP:0000962	Hyperkeratosis	91624	NEXN	ORPHA:154
HP:0000962	Hyperkeratosis	79717	PPCS	ORPHA:154
HP:0000962	Hyperkeratosis	5664	PSEN2	ORPHA:154
HP:0000962	Hyperkeratosis	4624	MYH6	ORPHA:154
HP:0000962	Hyperkeratosis	9529	BAG5	ORPHA:154
HP:0000962	Hyperkeratosis	4607	MYBPC3	ORPHA:154
HP:0000962	Hyperkeratosis	282996	RBM20	ORPHA:154
HP:0000962	Hyperkeratosis	7137	TNNI3	ORPHA:154
HP:0000962	Hyperkeratosis	11155	LDB3	ORPHA:154
HP:0000962	Hyperkeratosis	2274	FHL2	ORPHA:154
HP:0000962	Hyperkeratosis	6901	TAFAZZIN	ORPHA:154
HP:0000962	Hyperkeratosis	22845	DOLK	ORPHA:154
HP:0000962	Hyperkeratosis	5894	RAF1	ORPHA:154
HP:0000962	Hyperkeratosis	1756	DMD	ORPHA:154
HP:0000962	Hyperkeratosis	57798	GATAD1	ORPHA:154
HP:0000962	Hyperkeratosis	7134	TNNC1	ORPHA:154
HP:0000962	Hyperkeratosis	84665	MYPN	ORPHA:154
HP:0000962	Hyperkeratosis	1674	DES	ORPHA:154
HP:0000962	Hyperkeratosis	6444	SGCD	ORPHA:154
HP:0000962	Hyperkeratosis	6331	SCN5A	ORPHA:154
HP:0000962	Hyperkeratosis	2218	FKTN	ORPHA:154
HP:0000962	Hyperkeratosis	8557	TCAP	ORPHA:154
HP:0000962	Hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0000962	Hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0000962	Hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0000962	Hyperkeratosis	162	AP1B1	OMIM:242150
HP:0000962	Hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0000962	Hyperkeratosis	1824	DSC2	OMIM:610476
HP:0000962	Hyperkeratosis	8626	TP63	OMIM:106260
HP:0000962	Hyperkeratosis	8626	TP63	OMIM:129400
HP:0000962	Hyperkeratosis	3849	KRT2	ORPHA:455
HP:0000962	Hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0000962	Hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0000962	Hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0000962	Hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0000962	Hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0000962	Hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0000962	Hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0000962	Hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0000962	Hyperkeratosis	6898	TAT	ORPHA:28378
HP:0000962	Hyperkeratosis	1475	CSTA	OMIM:607936
HP:0000962	Hyperkeratosis	23328	SASH1	OMIM:618373
HP:0000962	Hyperkeratosis	1474	CST6	OMIM:618535
HP:0000962	Hyperkeratosis	412	STS	OMIM:308100
HP:0000962	Hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0000962	Hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0000962	Hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0000962	Hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0000962	Hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0000962	Hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0000962	Hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0000962	Hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0000962	Hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0000962	Hyperkeratosis	5184	PEPD	ORPHA:742
HP:0000962	Hyperkeratosis	25959	KANK2	OMIM:616099
HP:0000962	Hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0000962	Hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0000962	Hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0000962	Hyperkeratosis	940	CD28	ORPHA:3162
HP:0000962	Hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0000962	Hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0000962	Hyperkeratosis	23592	LEMD3	ORPHA:1306
HP:0000962	Hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0000962	Hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0000962	Hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0000962	Hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0000962	Hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0000962	Hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0000962	Hyperkeratosis	7012	TERC	ORPHA:1775
HP:0000962	Hyperkeratosis	5073	PARN	ORPHA:1775
HP:0000962	Hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0000962	Hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0000962	Hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0000962	Hyperkeratosis	1832	DSP	ORPHA:65282
HP:0000962	Hyperkeratosis	127534	GJB4	ORPHA:317
HP:0000962	Hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0000962	Hyperkeratosis	5728	PTEN	ORPHA:201
HP:0000962	Hyperkeratosis	5728	PTEN	ORPHA:744
HP:0000962	Hyperkeratosis	6390	SDHB	ORPHA:201
HP:0000962	Hyperkeratosis	6392	SDHD	ORPHA:201
HP:0000962	Hyperkeratosis	6391	SDHC	ORPHA:201
HP:0000962	Hyperkeratosis	207	AKT1	ORPHA:201
HP:0000962	Hyperkeratosis	207	AKT1	ORPHA:744
HP:0000962	Hyperkeratosis	205717	USF3	ORPHA:201
HP:0000962	Hyperkeratosis	5290	PIK3CA	ORPHA:201
HP:0000962	Hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0000962	Hyperkeratosis	4000	LMNA	ORPHA:1662
HP:0000962	Hyperkeratosis	10269	ZMPSTE24	ORPHA:1662
HP:0000962	Hyperkeratosis	2707	GJB3	OMIM:133200
HP:0000962	Hyperkeratosis	2517	FUCA1	ORPHA:349
HP:0000962	Hyperkeratosis	362	AQP5	OMIM:600231
HP:0000962	Hyperkeratosis	362	AQP5	ORPHA:2337
HP:0000962	Hyperkeratosis	57152	SLURP1	ORPHA:86923
HP:0000962	Hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0000962	Hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0000962	Hyperkeratosis	9342	SNAP29	ORPHA:66631
HP:0000962	Hyperkeratosis	2324	FLT4	OMIM:153100
HP:0000962	Hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0000962	Hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0000962	Hyperkeratosis	51371	POMP	OMIM:601952
HP:0000962	Hyperkeratosis	3887	KRT81	OMIM:158000
HP:0000962	Hyperkeratosis	3889	KRT83	OMIM:158000
HP:0000962	Hyperkeratosis	3892	KRT86	OMIM:158000
HP:0000962	Hyperkeratosis	3122	HLA-DRA	ORPHA:505
HP:0000962	Hyperkeratosis	147409	DSG4	ORPHA:573
HP:0000962	Hyperkeratosis	147409	DSG4	OMIM:607903
HP:0000962	Hyperkeratosis	1291	COL6A1	OMIM:254090
HP:0000962	Hyperkeratosis	1292	COL6A2	OMIM:254090
HP:0000962	Hyperkeratosis	1293	COL6A3	OMIM:254090
HP:0000962	Hyperkeratosis	5351	PLOD1	OMIM:225400
HP:0000962	Hyperkeratosis	55033	FKBP14	ORPHA:300179
HP:0000962	Hyperkeratosis	55033	FKBP14	OMIM:614557
HP:0000962	Hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0000962	Hyperkeratosis	6897	TARS1	OMIM:618546
HP:0000962	Hyperkeratosis	55851	PSENEN	OMIM:613736
HP:0000962	Hyperkeratosis	4035	LRP1	ORPHA:79100
HP:0000962	Hyperkeratosis	6720	SREBF1	OMIM:158310
HP:0000962	Hyperkeratosis	10999	SLC27A4	OMIM:608649
HP:0000962	Hyperkeratosis	9325	TRIP4	OMIM:617066
HP:0000962	Hyperkeratosis	9325	TRIP4	ORPHA:486815
HP:0000962	Hyperkeratosis	831	CAST	OMIM:616295
HP:0000962	Hyperkeratosis	4921	DDR2	OMIM:618175
HP:0000962	Hyperkeratosis	5950	RBP4	OMIM:615147
HP:0000962	Hyperkeratosis	1825	DSC3	OMIM:613102
HP:0000962	Hyperkeratosis	23509	POFUT1	OMIM:615327
HP:0000962	Hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0000962	Hyperkeratosis	54345	SOX18	OMIM:137940
HP:0000962	Hyperkeratosis	6785	ELOVL4	OMIM:133190
HP:0000962	Hyperkeratosis	673	BRAF	OMIM:613707
HP:0000962	Hyperkeratosis	2697	GJA1	OMIM:104100
HP:0000962	Hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0000962	Hyperkeratosis	3914	LAMB3	OMIM:226650
HP:0000962	Hyperkeratosis	9401	RECQL4	ORPHA:221016
HP:0000962	Hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0000962	Hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0000962	Hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0000962	Hyperkeratosis	79650	USB1	OMIM:604173
HP:0000962	Hyperkeratosis	64682	ANAPC1	ORPHA:221008
HP:0000962	Hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0000962	Hyperkeratosis	51360	MBTPS2	OMIM:308205
HP:0000962	Hyperkeratosis	126695	KDF1	OMIM:617337
HP:0000962	Hyperkeratosis	79092	CARD14	OMIM:173200
HP:0000962	Hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0000962	Hyperkeratosis	3728	JUP	OMIM:601214
HP:0000962	Hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0000962	Hyperkeratosis	488	ATP2A2	ORPHA:218
HP:0000962	Hyperkeratosis	488	ATP2A2	OMIM:124200
HP:0000962	Hyperkeratosis	56916	SMARCAD1	OMIM:136000
HP:0000962	Hyperkeratosis	55906	ZC4H2	OMIM:314580
HP:0000962	Hyperkeratosis	80326	WNT10A	OMIM:150400
HP:0000962	Hyperkeratosis	81607	NECTIN4	OMIM:613573
HP:0000962	Hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0000962	Hyperkeratosis	3857	KRT9	OMIM:144200
HP:0000962	Hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0000962	Hyperkeratosis	3852	KRT5	ORPHA:79397
HP:0000962	Hyperkeratosis	3852	KRT5	ORPHA:79399
HP:0000962	Hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0000962	Hyperkeratosis	3861	KRT14	ORPHA:79397
HP:0000962	Hyperkeratosis	3861	KRT14	ORPHA:79399
HP:0000962	Hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0000962	Hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0000962	Hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0000962	Hyperkeratosis	3872	KRT17	ORPHA:2309
HP:0000962	Hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0000962	Hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0000962	Hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0000962	Hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0000962	Hyperkeratosis	6820	SULT2B1	OMIM:617571
HP:0000962	Hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0000962	Hyperkeratosis	1828	DSG1	OMIM:148700
HP:0000962	Hyperkeratosis	3858	KRT10	OMIM:146600
HP:0000962	Hyperkeratosis	10804	GJB6	ORPHA:189
HP:0000962	Hyperkeratosis	2706	GJB2	OMIM:602540
HP:0000962	Hyperkeratosis	2050	EPHB4	ORPHA:90186
HP:0000962	Hyperkeratosis	64065	PERP	OMIM:619208
HP:0000962	Hyperkeratosis	3868	KRT16	OMIM:613000
HP:0000962	Hyperkeratosis	3860	KRT13	OMIM:615785
HP:0000962	Hyperkeratosis	56983	POGLUT1	ORPHA:79145
HP:0000963	Thin skin	5351	PLOD1	OMIM:225400
HP:0000963	Thin skin	7148	TNXB	ORPHA:230839
HP:0000963	Thin skin	23394	ADNP	OMIM:615873
HP:0000963	Thin skin	2778	GNAS	OMIM:219080
HP:0000963	Thin skin	117581	TWIST2	OMIM:200110
HP:0000963	Thin skin	117581	TWIST2	ORPHA:920
HP:0000963	Thin skin	1278	COL1A2	ORPHA:230851
HP:0000963	Thin skin	1278	COL1A2	OMIM:166210
HP:0000963	Thin skin	1278	COL1A2	OMIM:225320
HP:0000963	Thin skin	1278	COL1A2	ORPHA:1899
HP:0000963	Thin skin	89910	UBE3B	OMIM:244450
HP:0000963	Thin skin	1294	COL7A1	ORPHA:158673
HP:0000963	Thin skin	50940	PDE11A	OMIM:610475
HP:0000963	Thin skin	50940	PDE11A	ORPHA:189439
HP:0000963	Thin skin	5831	PYCR1	OMIM:614438
HP:0000963	Thin skin	5831	PYCR1	ORPHA:2078
HP:0000963	Thin skin	8626	TP63	OMIM:103285
HP:0000963	Thin skin	8626	TP63	OMIM:129400
HP:0000963	Thin skin	8626	TP63	ORPHA:978
HP:0000963	Thin skin	4000	LMNA	ORPHA:90153
HP:0000963	Thin skin	4000	LMNA	ORPHA:79474
HP:0000963	Thin skin	4000	LMNA	ORPHA:280365
HP:0000963	Thin skin	4000	LMNA	ORPHA:2348
HP:0000963	Thin skin	10651	MTX2	ORPHA:90153
HP:0000963	Thin skin	10269	ZMPSTE24	ORPHA:90154
HP:0000963	Thin skin	10269	ZMPSTE24	OMIM:275210
HP:0000963	Thin skin	3849	KRT2	ORPHA:455
HP:0000963	Thin skin	84196	USP48	ORPHA:96253
HP:0000963	Thin skin	7157	TP53	ORPHA:96253
HP:0000963	Thin skin	9101	USP8	ORPHA:96253
HP:0000963	Thin skin	9101	USP8	OMIM:219090
HP:0000963	Thin skin	64072	CDH23	ORPHA:96253
HP:0000963	Thin skin	2908	NR3C1	ORPHA:96253
HP:0000963	Thin skin	673	BRAF	ORPHA:96253
HP:0000963	Thin skin	546	ATRX	ORPHA:96253
HP:0000963	Thin skin	1896	EDA	OMIM:305100
HP:0000963	Thin skin	54345	SOX18	OMIM:607823
HP:0000963	Thin skin	2332	FMR1	ORPHA:449291
HP:0000963	Thin skin	4998	ORC1	OMIM:224690
HP:0000963	Thin skin	10616	RBCK1	OMIM:615895
HP:0000963	Thin skin	1147	CHUK	OMIM:613630
HP:0000963	Thin skin	5468	PPARG	ORPHA:79083
HP:0000963	Thin skin	1277	COL1A1	OMIM:166210
HP:0000963	Thin skin	1277	COL1A1	OMIM:166200
HP:0000963	Thin skin	1277	COL1A1	ORPHA:1899
HP:0000963	Thin skin	5573	PRKAR1A	OMIM:610489
HP:0000963	Thin skin	5573	PRKAR1A	ORPHA:189439
HP:0000963	Thin skin	9719	ADAMTSL2	ORPHA:1901
HP:0000963	Thin skin	9509	ADAMTS2	ORPHA:1901
HP:0000963	Thin skin	857	CAV1	OMIM:606721
HP:0000963	Thin skin	1281	COL3A1	ORPHA:286
HP:0000963	Thin skin	1281	COL3A1	ORPHA:2500
HP:0000963	Thin skin	4784	NFIX	ORPHA:561
HP:0000963	Thin skin	5159	PDGFRB	OMIM:616592
HP:0000963	Thin skin	5159	PDGFRB	OMIM:601812
HP:0000963	Thin skin	3977	LIFR	OMIM:601559
HP:0000963	Thin skin	4507	MTAP	OMIM:112250
HP:0000963	Thin skin	25	ABL1	OMIM:617602
HP:0000963	Thin skin	23314	SATB2	OMIM:612313
HP:0000963	Thin skin	9049	AIP	OMIM:219090
HP:0000963	Thin skin	11285	B4GALT7	ORPHA:75496
HP:0000963	Thin skin	375	ARF1	ORPHA:98892
HP:0000963	Thin skin	4131	MAP1B	ORPHA:98892
HP:0000963	Thin skin	2316	FLNA	ORPHA:98892
HP:0000963	Thin skin	2316	FLNA	ORPHA:75497
HP:0000963	Thin skin	23327	NEDD4L	ORPHA:98892
HP:0000963	Thin skin	160418	TMTC3	ORPHA:98892
HP:0000963	Thin skin	10564	ARFGEF2	ORPHA:98892
HP:0000963	Thin skin	55780	ERMARD	ORPHA:98892
HP:0000963	Thin skin	9791	PTDSS1	OMIM:151050
HP:0000963	Thin skin	64840	PORCN	ORPHA:2092
HP:0000963	Thin skin	80326	WNT10A	OMIM:150400
HP:0000963	Thin skin	5566	PRKACA	ORPHA:189439
HP:0000963	Thin skin	8622	PDE8B	ORPHA:189439
HP:0000963	Thin skin	81031	SLC2A10	ORPHA:3342
HP:0000963	Thin skin	81031	SLC2A10	OMIM:208050
HP:0000963	Thin skin	11128	POLR3A	OMIM:264090
HP:0000963	Thin skin	11128	POLR3A	ORPHA:3455
HP:0000963	Thin skin	5627	PROS1	ORPHA:743
HP:0000963	Thin skin	5184	PEPD	ORPHA:742
HP:0000963	Thin skin	5624	PROC	ORPHA:745
HP:0000963	Thin skin	715	C1R	OMIM:130080
HP:0000963	Thin skin	5500	PPP1CB	OMIM:617506
HP:0000963	Thin skin	5832	ALDH18A1	OMIM:219150
HP:0000963	Thin skin	126792	B3GALT6	ORPHA:536467
HP:0000963	Thin skin	5295	PIK3R1	OMIM:269880
HP:0000963	Thin skin	92344	GORAB	ORPHA:2078
HP:0000963	Thin skin	91252	SLC39A13	ORPHA:157965
HP:0000963	Thin skin	91252	SLC39A13	OMIM:612350
HP:0000963	Thin skin	9742	IFT140	OMIM:266920
HP:0000963	Thin skin	4921	DDR2	OMIM:618175
HP:0000963	Thin skin	5587	PRKD1	OMIM:617364
HP:0000963	Thin skin	80169	CTC1	OMIM:612199
HP:0000963	Thin skin	7046	TGFBR1	ORPHA:60030
HP:0000963	Thin skin	10526	IPO8	ORPHA:60030
HP:0000963	Thin skin	7048	TGFBR2	ORPHA:60030
HP:0000963	Thin skin	22907	DHX30	OMIM:617804
HP:0000963	Thin skin	56916	SMARCAD1	ORPHA:1658
HP:0000963	Thin skin	7189	TRAF6	ORPHA:1810
HP:0000963	Thin skin	128178	EDARADD	ORPHA:1810
HP:0000963	Thin skin	126695	KDF1	ORPHA:1810
HP:0000963	Thin skin	10913	EDAR	ORPHA:1810
HP:0000963	Thin skin	2068	ERCC2	ORPHA:910
HP:0000963	Thin skin	7507	XPA	ORPHA:910
HP:0000963	Thin skin	2071	ERCC3	ORPHA:910
HP:0000963	Thin skin	7508	XPC	ORPHA:910
HP:0000963	Thin skin	1643	DDB2	ORPHA:910
HP:0000963	Thin skin	2072	ERCC4	ORPHA:910
HP:0000963	Thin skin	2073	ERCC5	ORPHA:910
HP:0000964	Eczema	8036	SHOC2	OMIM:607721
HP:0000964	Eczema	2235	FECH	OMIM:177000
HP:0000964	Eczema	2235	FECH	ORPHA:79278
HP:0000964	Eczema	26960	NBEA	OMIM:619157
HP:0000964	Eczema	6016	RIT1	OMIM:615355
HP:0000964	Eczema	6777	STAT5B	OMIM:618985
HP:0000964	Eczema	9759	HDAC4	ORPHA:1001
HP:0000964	Eczema	9759	HDAC4	OMIM:600430
HP:0000964	Eczema	57122	NUP107	OMIM:618348
HP:0000964	Eczema	100151683	RNU4ATAC	ORPHA:353298
HP:0000964	Eczema	100151683	RNU4ATAC	OMIM:616651
HP:0000964	Eczema	3119	HLA-DQB1	ORPHA:703
HP:0000964	Eczema	3119	HLA-DQB1	OMIM:212750
HP:0000964	Eczema	3123	HLA-DRB1	ORPHA:703
HP:0000964	Eczema	2767	GNA11	ORPHA:428
HP:0000964	Eczema	846	CASR	ORPHA:428
HP:0000964	Eczema	114803	MYSM1	ORPHA:508542
HP:0000964	Eczema	114803	MYSM1	OMIM:618116
HP:0000964	Eczema	4522	MTHFD1	OMIM:617780
HP:0000964	Eczema	3021	H3-3B	OMIM:619721
HP:0000964	Eczema	5184	PEPD	OMIM:170100
HP:0000964	Eczema	841	CASP8	OMIM:607271
HP:0000964	Eczema	79644	SRD5A3	OMIM:612379
HP:0000964	Eczema	5053	PAH	OMIM:261600
HP:0000964	Eczema	5053	PAH	ORPHA:79254
HP:0000964	Eczema	8626	TP63	OMIM:103285
HP:0000964	Eczema	9837	GINS1	OMIM:617827
HP:0000964	Eczema	79415	CYBC1	ORPHA:379
HP:0000964	Eczema	79415	CYBC1	OMIM:618935
HP:0000964	Eczema	134218	DNAJC21	ORPHA:811
HP:0000964	Eczema	134218	DNAJC21	OMIM:617052
HP:0000964	Eczema	79631	EFL1	ORPHA:811
HP:0000964	Eczema	51119	SBDS	ORPHA:811
HP:0000964	Eczema	6729	SRP54	ORPHA:811
HP:0000964	Eczema	16	AARS1	OMIM:619691
HP:0000964	Eczema	7454	WAS	OMIM:300299
HP:0000964	Eczema	7454	WAS	OMIM:301000
HP:0000964	Eczema	7454	WAS	ORPHA:906
HP:0000964	Eczema	7454	WAS	OMIM:313900
HP:0000964	Eczema	1896	EDA	OMIM:305100
HP:0000964	Eczema	7780	SLC30A2	OMIM:608118
HP:0000964	Eczema	51360	MBTPS2	ORPHA:2273
HP:0000964	Eczema	51360	MBTPS2	OMIM:308205
HP:0000964	Eczema	6772	STAT1	OMIM:614162
HP:0000964	Eczema	6772	STAT1	ORPHA:391487
HP:0000964	Eczema	7941	PLA2G7	OMIM:147050
HP:0000964	Eczema	50615	IL21R	OMIM:147050
HP:0000964	Eczema	3566	IL4R	OMIM:147050
HP:0000964	Eczema	2206	MS4A2	OMIM:147050
HP:0000964	Eczema	284058	KANSL1	ORPHA:363958
HP:0000964	Eczema	284058	KANSL1	ORPHA:363965
HP:0000964	Eczema	284058	KANSL1	OMIM:610443
HP:0000964	Eczema	6601	SMARCC2	OMIM:618362
HP:0000964	Eczema	54496	PRMT7	OMIM:617157
HP:0000964	Eczema	54496	PRMT7	ORPHA:464288
HP:0000964	Eczema	1493	CTLA4	OMIM:616100
HP:0000964	Eczema	1493	CTLA4	ORPHA:2584
HP:0000964	Eczema	8260	NAA10	OMIM:300855
HP:0000964	Eczema	816	CAMK2B	OMIM:617799
HP:0000964	Eczema	10616	RBCK1	OMIM:615895
HP:0000964	Eczema	3117	HLA-DQA1	OMIM:212750
HP:0000964	Eczema	6821	SUOX	OMIM:272300
HP:0000964	Eczema	5095	PCCA	OMIM:606054
HP:0000964	Eczema	5096	PCCB	OMIM:606054
HP:0000964	Eczema	1717	DHCR7	OMIM:270400
HP:0000964	Eczema	64127	NOD2	OMIM:186580
HP:0000964	Eczema	4478	MSN	OMIM:300988
HP:0000964	Eczema	26053	AUTS2	ORPHA:352490
HP:0000964	Eczema	51428	DDX41	OMIM:616871
HP:0000964	Eczema	2313	FLI1	OMIM:617443
HP:0000964	Eczema	2313	FLI1	ORPHA:2308
HP:0000964	Eczema	93627	TBCK	ORPHA:488632
HP:0000964	Eczema	1474	CST6	OMIM:618535
HP:0000964	Eczema	25942	SIN3A	OMIM:613406
HP:0000964	Eczema	3981	LIG4	ORPHA:235
HP:0000964	Eczema	54888	NSUN2	ORPHA:235
HP:0000964	Eczema	54888	NSUN2	OMIM:611091
HP:0000964	Eczema	10043	TOM1	ORPHA:391487
HP:0000964	Eczema	10043	TOM1	OMIM:619510
HP:0000964	Eczema	54914	FOCAD	OMIM:619991
HP:0000964	Eczema	126695	KDF1	OMIM:617337
HP:0000964	Eczema	126695	KDF1	ORPHA:1810
HP:0000964	Eczema	7456	WIPF1	ORPHA:906
HP:0000964	Eczema	7456	WIPF1	OMIM:614493
HP:0000964	Eczema	3575	IL7R	OMIM:608971
HP:0000964	Eczema	25914	RTTN	ORPHA:468631
HP:0000964	Eczema	55719	SLF2	OMIM:620184
HP:0000964	Eczema	79092	CARD14	ORPHA:2897
HP:0000964	Eczema	283209	PGM2L1	OMIM:620191
HP:0000964	Eczema	6595	SMARCA2	ORPHA:3051
HP:0000964	Eczema	6595	SMARCA2	OMIM:601358
HP:0000964	Eczema	6872	TAF1	OMIM:300966
HP:0000964	Eczema	11005	SPINK5	OMIM:256500
HP:0000964	Eczema	11005	SPINK5	ORPHA:634
HP:0000964	Eczema	51816	ADA2	OMIM:615688
HP:0000964	Eczema	5294	PIK3CG	OMIM:619802
HP:0000964	Eczema	917	CD3G	OMIM:615607
HP:0000964	Eczema	23387	SIK3	OMIM:618162
HP:0000964	Eczema	3978	LIG1	OMIM:619774
HP:0000964	Eczema	5879	RAC1	OMIM:617751
HP:0000964	Eczema	5879	RAC1	ORPHA:500159
HP:0000964	Eczema	2678	GGT1	OMIM:231950
HP:0000964	Eczema	203190	LGI3	OMIM:620007
HP:0000964	Eczema	3930	LBR	OMIM:169400
HP:0000964	Eczema	23765	IL17RA	OMIM:613953
HP:0000964	Eczema	404672	GTF2H5	ORPHA:33364
HP:0000964	Eczema	833	CARS1	ORPHA:33364
HP:0000964	Eczema	2068	ERCC2	ORPHA:33364
HP:0000964	Eczema	7737	RNF113A	ORPHA:33364
HP:0000964	Eczema	136647	MPLKIP	ORPHA:33364
HP:0000964	Eczema	6897	TARS1	ORPHA:33364
HP:0000964	Eczema	2071	ERCC3	ORPHA:33364
HP:0000964	Eczema	2961	GTF2E2	ORPHA:33364
HP:0000964	Eczema	9526	MPDU1	ORPHA:79323
HP:0000964	Eczema	9333	TGM5	ORPHA:263534
HP:0000964	Eczema	1475	CSTA	ORPHA:263534
HP:0000964	Eczema	55181	SMG8	OMIM:619268
HP:0000964	Eczema	56160	NSMCE3	OMIM:617241
HP:0000964	Eczema	5426	POLE	OMIM:618336
HP:0000964	Eczema	940	CD28	ORPHA:2584
HP:0000964	Eczema	7133	TNFRSF1B	ORPHA:2584
HP:0000964	Eczema	3559	IL2RA	OMIM:606367
HP:0000964	Eczema	7189	TRAF6	ORPHA:1810
HP:0000964	Eczema	128178	EDARADD	ORPHA:1810
HP:0000964	Eczema	10913	EDAR	ORPHA:1810
HP:0000964	Eczema	7535	ZAP70	OMIM:269840
HP:0000964	Eczema	1536	CYBB	OMIM:306400
HP:0000964	Eczema	6774	STAT3	OMIM:147060
HP:0000964	Eczema	4688	NCF2	OMIM:233710
HP:0000964	Eczema	50943	FOXP3	ORPHA:37042
HP:0000964	Eczema	653361	NCF1	OMIM:233700
HP:0000964	Eczema	1535	CYBA	OMIM:233690
HP:0000964	Eczema	2312	FLG	OMIM:146700
HP:0000964	Eczema	2615	LRRC32	OMIM:619074
HP:0000964	Eczema	84905	ZNF341	OMIM:618282
HP:0000964	Eczema	388698	FLG2	OMIM:618084
HP:0000964	Eczema	3572	IL6ST	OMIM:619752
HP:0000964	Eczema	10526	IPO8	OMIM:619472
HP:0000964	Eczema	91754	NEK9	OMIM:614262
HP:0000964	Eczema	1041	CDSN	ORPHA:90368
HP:0000964	Eczema	121391	KRT74	ORPHA:90368
HP:0000964	Eczema	5238	PGM3	ORPHA:443811
HP:0000964	Eczema	673	BRAF	OMIM:115150
HP:0000964	Eczema	84433	CARD11	OMIM:617638
HP:0000964	Eczema	22800	RRAS2	OMIM:618624
HP:0000964	Eczema	3570	IL6R	OMIM:618944
HP:0000964	Eczema	8456	FOXN1	OMIM:618806
HP:0000964	Eczema	10060	ABCC9	OMIM:619719
HP:0000964	Eczema	3514	IGKC	ORPHA:183675
HP:0000964	Eczema	3501	IGHG2	ORPHA:183675
HP:0000964	Eczema	1080	CFTR	ORPHA:498359
HP:0000964	Eczema	81704	DOCK8	OMIM:243700
HP:0000964	Eczema	81704	DOCK8	ORPHA:217390
HP:0000964	Eczema	10847	SRCAP	OMIM:136140
HP:0000964	Eczema	6340	SCNN1G	ORPHA:171876
HP:0000964	Eczema	6337	SCNN1A	ORPHA:171876
HP:0000964	Eczema	6338	SCNN1B	ORPHA:171876
HP:0000964	Eczema	23102	TBC1D2B	ORPHA:397973
HP:0000964	Eczema	3848	KRT1	ORPHA:530838
HP:0000964	Eczema	3313	HSPA9	OMIM:616854
HP:0000964	Eczema	22880	MORC2	ORPHA:466768
HP:0000964	Eczema	64135	IFIH1	OMIM:615846
HP:0000964	Eczema	2783	GNB2	OMIM:619503
HP:0000964	Eczema	3716	JAK1	OMIM:618999
HP:0000964	Eczema	5290	PIK3CA	ORPHA:276280
HP:0000964	Eczema	6578	SLCO2A1	OMIM:614441
HP:0000964	Eczema	6578	SLCO2A1	OMIM:167100
HP:0000964	Eczema	6578	SLCO2A1	ORPHA:2796
HP:0000964	Eczema	7922	SLC39A7	OMIM:619693
HP:0000964	Eczema	686	BTD	OMIM:253260
HP:0000964	Eczema	79755	ZNF750	OMIM:610227
HP:0000964	Eczema	64087	MCCC2	OMIM:210210
HP:0000964	Eczema	9939	RBM8A	OMIM:274000
HP:0000964	Eczema	3248	HPGD	OMIM:259100
HP:0000964	Eczema	3248	HPGD	ORPHA:2796
HP:0000964	Eczema	1312	COMT	ORPHA:567
HP:0000964	Eczema	221037	JMJD1C	ORPHA:567
HP:0000964	Eczema	2812	GP1BB	ORPHA:567
HP:0000964	Eczema	6239	RREB1	ORPHA:567
HP:0000964	Eczema	6899	TBX1	ORPHA:567
HP:0000964	Eczema	6899	TBX1	OMIM:188400
HP:0000964	Eczema	7290	HIRA	ORPHA:567
HP:0000964	Eczema	9632	SEC24C	ORPHA:567
HP:0000964	Eczema	7353	UFD1	ORPHA:567
HP:0000964	Eczema	421	ARVCF	ORPHA:567
HP:0000964	Eczema	11322	TMC6	ORPHA:302
HP:0000964	Eczema	3574	IL7	ORPHA:302
HP:0000964	Eczema	147138	TMC8	ORPHA:302
HP:0000964	Eczema	10519	CIB1	ORPHA:302
HP:0000964	Eczema	5277	PIGA	OMIM:300868
HP:0000964	Eczema	5277	PIGA	OMIM:301072
HP:0000964	Eczema	146206	CARMIL2	OMIM:618131
HP:0000964	Eczema	10758	TRAF3IP2	OMIM:615527
HP:0000964	Eczema	7086	TKT	ORPHA:488618
HP:0000964	Eczema	727	C5	OMIM:609536
HP:0000964	Eczema	4689	NCF4	OMIM:613960
HP:0000964	Eczema	3141	HLCS	ORPHA:79242
HP:0000965	Cutis marmorata	23476	BRD4	ORPHA:199
HP:0000965	Cutis marmorata	9126	SMC3	ORPHA:199
HP:0000965	Cutis marmorata	9126	SMC3	OMIM:610759
HP:0000965	Cutis marmorata	8243	SMC1A	ORPHA:199
HP:0000965	Cutis marmorata	8243	SMC1A	OMIM:300590
HP:0000965	Cutis marmorata	25836	NIPBL	ORPHA:199
HP:0000965	Cutis marmorata	25836	NIPBL	OMIM:122470
HP:0000965	Cutis marmorata	55869	HDAC8	ORPHA:199
HP:0000965	Cutis marmorata	55869	HDAC8	OMIM:300882
HP:0000965	Cutis marmorata	5885	RAD21	ORPHA:199
HP:0000965	Cutis marmorata	5885	RAD21	OMIM:614701
HP:0000965	Cutis marmorata	3981	LIG4	ORPHA:235
HP:0000965	Cutis marmorata	54888	NSUN2	ORPHA:235
HP:0000965	Cutis marmorata	9791	PTDSS1	OMIM:151050
HP:0000965	Cutis marmorata	2982	GUCY1A1	OMIM:615750
HP:0000965	Cutis marmorata	2982	GUCY1A1	ORPHA:401945
HP:0000965	Cutis marmorata	7737	RNF113A	OMIM:300953
HP:0000965	Cutis marmorata	5290	PIK3CA	ORPHA:60040
HP:0000965	Cutis marmorata	5290	PIK3CA	OMIM:602501
HP:0000965	Cutis marmorata	189	AGXT	OMIM:259900
HP:0000965	Cutis marmorata	57514	ARHGAP31	OMIM:100300
HP:0000965	Cutis marmorata	57514	ARHGAP31	ORPHA:974
HP:0000965	Cutis marmorata	8364	H4C3	OMIM:619758
HP:0000965	Cutis marmorata	5728	PTEN	ORPHA:109
HP:0000965	Cutis marmorata	4629	MYH11	ORPHA:229
HP:0000965	Cutis marmorata	4629	MYH11	ORPHA:91387
HP:0000965	Cutis marmorata	10274	STAG1	ORPHA:502434
HP:0000965	Cutis marmorata	4774	NFIA	OMIM:613735
HP:0000965	Cutis marmorata	4774	NFIA	ORPHA:401986
HP:0000965	Cutis marmorata	51816	ADA2	ORPHA:820
HP:0000965	Cutis marmorata	51816	ADA2	OMIM:615688
HP:0000965	Cutis marmorata	51816	ADA2	OMIM:182410
HP:0000965	Cutis marmorata	10060	ABCC9	OMIM:619719
HP:0000965	Cutis marmorata	55027	HEATR3	OMIM:620072
HP:0000965	Cutis marmorata	4784	NFIX	OMIM:614753
HP:0000965	Cutis marmorata	54345	SOX18	ORPHA:69735
HP:0000965	Cutis marmorata	1717	DHCR7	ORPHA:818
HP:0000965	Cutis marmorata	3516	RBPJ	ORPHA:974
HP:0000965	Cutis marmorata	4851	NOTCH1	ORPHA:974
HP:0000965	Cutis marmorata	57572	DOCK6	ORPHA:974
HP:0000965	Cutis marmorata	57572	DOCK6	OMIM:614219
HP:0000965	Cutis marmorata	285203	EOGT	ORPHA:974
HP:0000965	Cutis marmorata	285203	EOGT	OMIM:615297
HP:0000965	Cutis marmorata	54567	DLL4	ORPHA:974
HP:0000965	Cutis marmorata	54567	DLL4	OMIM:616589
HP:0000965	Cutis marmorata	2767	GNA11	ORPHA:1556
HP:0000965	Cutis marmorata	151188	ARL6IP6	ORPHA:1556
HP:0000965	Cutis marmorata	79068	FTO	OMIM:612938
HP:0000965	Cutis marmorata	6197	RPS6KA3	OMIM:303600
HP:0000965	Cutis marmorata	5422	POLA1	OMIM:301220
HP:0000965	Cutis marmorata	57492	ARID1B	OMIM:135900
HP:0000965	Cutis marmorata	1663	DDX11	OMIM:613398
HP:0000965	Cutis marmorata	340061	STING1	OMIM:615934
HP:0000965	Cutis marmorata	10000	AKT3	OMIM:615937
HP:0000965	Cutis marmorata	875	CBS	OMIM:236200
HP:0000965	Cutis marmorata	51574	LARP7	ORPHA:319671
HP:0000965	Cutis marmorata	4615	MYD88	ORPHA:33226
HP:0000965	Cutis marmorata	857	CAV1	OMIM:606721
HP:0000965	Cutis marmorata	25	ABL1	OMIM:617602
HP:0000965	Cutis marmorata	10535	RNASEH2A	ORPHA:51
HP:0000965	Cutis marmorata	84153	RNASEH2C	ORPHA:51
HP:0000965	Cutis marmorata	25939	SAMHD1	ORPHA:51
HP:0000965	Cutis marmorata	79621	RNASEH2B	ORPHA:51
HP:0000965	Cutis marmorata	103	ADAR	ORPHA:51
HP:0000965	Cutis marmorata	11277	TREX1	ORPHA:51
HP:0000965	Cutis marmorata	100147744	RNU7-1	ORPHA:51
HP:0000965	Cutis marmorata	134353	LSM11	ORPHA:51
HP:0000965	Cutis marmorata	64135	IFIH1	ORPHA:51
HP:0000965	Cutis marmorata	7046	TGFBR1	ORPHA:91387
HP:0000965	Cutis marmorata	7048	TGFBR2	ORPHA:91387
HP:0000965	Cutis marmorata	4015	LOX	ORPHA:91387
HP:0000965	Cutis marmorata	4087	SMAD2	ORPHA:91387
HP:0000965	Cutis marmorata	7043	TGFB3	ORPHA:91387
HP:0000965	Cutis marmorata	4088	SMAD3	ORPHA:91387
HP:0000965	Cutis marmorata	7042	TGFB2	ORPHA:91387
HP:0000965	Cutis marmorata	4089	SMAD4	ORPHA:91387
HP:0000965	Cutis marmorata	2200	FBN1	ORPHA:91387
HP:0000965	Cutis marmorata	59	ACTA2	ORPHA:91387
HP:0000965	Cutis marmorata	5592	PRKG1	ORPHA:91387
HP:0000965	Cutis marmorata	2301	FOXE3	ORPHA:91387
HP:0000965	Cutis marmorata	4144	MAT2A	ORPHA:91387
HP:0000965	Cutis marmorata	23493	HEY2	ORPHA:91387
HP:0000965	Cutis marmorata	8076	MFAP5	ORPHA:91387
HP:0000965	Cutis marmorata	4638	MYLK	ORPHA:91387
HP:0000965	Cutis marmorata	2006	ELN	ORPHA:91387
HP:0000966	Hypohidrosis	1497	CTNS	OMIM:219800
HP:0000966	Hypohidrosis	54084	TSPEAR	OMIM:618180
HP:0000966	Hypohidrosis	60529	ALX4	OMIM:613451
HP:0000966	Hypohidrosis	54101	RIPK4	ORPHA:1401
HP:0000966	Hypohidrosis	8518	ELP1	ORPHA:1764
HP:0000966	Hypohidrosis	85446	ZFHX2	OMIM:147430
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:614940
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:129490
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:224900
HP:0000966	Hypohidrosis	128178	EDARADD	ORPHA:248
HP:0000966	Hypohidrosis	128178	EDARADD	ORPHA:1810
HP:0000966	Hypohidrosis	29926	GMPPA	OMIM:615510
HP:0000966	Hypohidrosis	8573	CASK	OMIM:300749
HP:0000966	Hypohidrosis	85358	SHANK3	OMIM:606232
HP:0000966	Hypohidrosis	85358	SHANK3	ORPHA:48652
HP:0000966	Hypohidrosis	27235	COQ2	OMIM:146500
HP:0000966	Hypohidrosis	1161	ERCC8	ORPHA:90321
HP:0000966	Hypohidrosis	2072	ERCC4	ORPHA:90321
HP:0000966	Hypohidrosis	2074	ERCC6	ORPHA:90321
HP:0000966	Hypohidrosis	57511	COG6	ORPHA:363523
HP:0000966	Hypohidrosis	57511	COG6	OMIM:614576
HP:0000966	Hypohidrosis	57511	COG6	OMIM:615328
HP:0000966	Hypohidrosis	3074	HEXB	OMIM:268800
HP:0000966	Hypohidrosis	113179	ADAT3	ORPHA:363528
HP:0000966	Hypohidrosis	6335	SCN9A	OMIM:243000
HP:0000966	Hypohidrosis	7051	TGM1	ORPHA:100976
HP:0000966	Hypohidrosis	7051	TGM1	ORPHA:79394
HP:0000966	Hypohidrosis	4792	NFKBIA	OMIM:612132
HP:0000966	Hypohidrosis	5818	NECTIN1	ORPHA:3253
HP:0000966	Hypohidrosis	170302	ARX	ORPHA:452
HP:0000966	Hypohidrosis	1896	EDA	OMIM:305100
HP:0000966	Hypohidrosis	1896	EDA	ORPHA:181
HP:0000966	Hypohidrosis	9071	CLDN10	OMIM:617671
HP:0000966	Hypohidrosis	51360	MBTPS2	ORPHA:2273
HP:0000966	Hypohidrosis	51360	MBTPS2	OMIM:308205
HP:0000966	Hypohidrosis	284252	KCTD1	ORPHA:2036
HP:0000966	Hypohidrosis	284252	KCTD1	OMIM:181270
HP:0000966	Hypohidrosis	6786	STIM1	OMIM:612783
HP:0000966	Hypohidrosis	6663	SOX10	ORPHA:163746
HP:0000966	Hypohidrosis	6663	SOX10	OMIM:609136
HP:0000966	Hypohidrosis	412	STS	ORPHA:281090
HP:0000966	Hypohidrosis	412	STS	OMIM:308100
HP:0000966	Hypohidrosis	412	STS	ORPHA:461
HP:0000966	Hypohidrosis	9325	TRIP4	OMIM:616866
HP:0000966	Hypohidrosis	80326	WNT10A	OMIM:257980
HP:0000966	Hypohidrosis	80326	WNT10A	OMIM:150400
HP:0000966	Hypohidrosis	80326	WNT10A	ORPHA:248
HP:0000966	Hypohidrosis	2717	GLA	ORPHA:324
HP:0000966	Hypohidrosis	2717	GLA	OMIM:301500
HP:0000966	Hypohidrosis	6768	ST14	OMIM:602400
HP:0000966	Hypohidrosis	1301	COL11A1	ORPHA:560
HP:0000966	Hypohidrosis	204219	CERS3	OMIM:615023
HP:0000966	Hypohidrosis	204219	CERS3	ORPHA:79394
HP:0000966	Hypohidrosis	1474	CST6	OMIM:618535
HP:0000966	Hypohidrosis	374393	FAM111B	OMIM:615704
HP:0000966	Hypohidrosis	242	ALOX12B	OMIM:242100
HP:0000966	Hypohidrosis	242	ALOX12B	ORPHA:79394
HP:0000966	Hypohidrosis	59344	ALOXE3	OMIM:242100
HP:0000966	Hypohidrosis	59344	ALOXE3	OMIM:606545
HP:0000966	Hypohidrosis	59344	ALOXE3	ORPHA:79394
HP:0000966	Hypohidrosis	10804	GJB6	ORPHA:477
HP:0000966	Hypohidrosis	2706	GJB2	ORPHA:477
HP:0000966	Hypohidrosis	2706	GJB2	OMIM:148210
HP:0000966	Hypohidrosis	348938	NIPAL4	OMIM:612281
HP:0000966	Hypohidrosis	348938	NIPAL4	ORPHA:79394
HP:0000966	Hypohidrosis	126695	KDF1	OMIM:617337
HP:0000966	Hypohidrosis	126695	KDF1	ORPHA:1810
HP:0000966	Hypohidrosis	59335	PRDM12	OMIM:616488
HP:0000966	Hypohidrosis	8626	TP63	OMIM:129400
HP:0000966	Hypohidrosis	8626	TP63	OMIM:603543
HP:0000966	Hypohidrosis	8626	TP63	ORPHA:69085
HP:0000966	Hypohidrosis	8626	TP63	ORPHA:1896
HP:0000966	Hypohidrosis	10913	EDAR	OMIM:129490
HP:0000966	Hypohidrosis	10913	EDAR	OMIM:224900
HP:0000966	Hypohidrosis	10913	EDAR	ORPHA:248
HP:0000966	Hypohidrosis	10913	EDAR	ORPHA:1810
HP:0000966	Hypohidrosis	3861	KRT14	OMIM:161000
HP:0000966	Hypohidrosis	3861	KRT14	ORPHA:69087
HP:0000966	Hypohidrosis	3861	KRT14	OMIM:125595
HP:0000966	Hypohidrosis	2312	FLG	ORPHA:461
HP:0000966	Hypohidrosis	60401	EDA2R	ORPHA:181
HP:0000966	Hypohidrosis	8567	MADD	OMIM:619004
HP:0000966	Hypohidrosis	6785	ELOVL4	ORPHA:1955
HP:0000966	Hypohidrosis	5422	POLA1	OMIM:301220
HP:0000966	Hypohidrosis	5317	PKP1	ORPHA:158668
HP:0000966	Hypohidrosis	3977	LIFR	ORPHA:3206
HP:0000966	Hypohidrosis	284111	SLC13A5	ORPHA:1946
HP:0000966	Hypohidrosis	79641	ROGDI	ORPHA:1946
HP:0000966	Hypohidrosis	1476	CSTB	ORPHA:248
HP:0000966	Hypohidrosis	23529	CLCF1	ORPHA:1545
HP:0000966	Hypohidrosis	9244	CRLF1	ORPHA:1545
HP:0000966	Hypohidrosis	26154	ABCA12	ORPHA:79394
HP:0000966	Hypohidrosis	285848	PNPLA1	ORPHA:79394
HP:0000966	Hypohidrosis	2260	FGFR1	ORPHA:3157
HP:0000966	Hypohidrosis	128674	PROKR2	ORPHA:3157
HP:0000966	Hypohidrosis	6657	SOX2	ORPHA:3157
HP:0000966	Hypohidrosis	6658	SOX3	ORPHA:3157
HP:0000966	Hypohidrosis	9915	ARNT2	ORPHA:3157
HP:0000966	Hypohidrosis	8820	HESX1	ORPHA:3157
HP:0000966	Hypohidrosis	5015	OTX2	ORPHA:3157
HP:0000966	Hypohidrosis	2690	GHR	ORPHA:633
HP:0000966	Hypohidrosis	7189	TRAF6	ORPHA:1810
HP:0000966	Hypohidrosis	4001	LMNB1	OMIM:169500
HP:0000966	Hypohidrosis	4001	LMNB1	ORPHA:99027
HP:0000966	Hypohidrosis	56916	SMARCAD1	OMIM:129200
HP:0000967	Petechiae	3674	ITGA2B	OMIM:187800
HP:0000967	Petechiae	3674	ITGA2B	ORPHA:853
HP:0000967	Petechiae	2811	GP1BA	OMIM:153670
HP:0000967	Petechiae	2811	GP1BA	ORPHA:274
HP:0000967	Petechiae	2811	GP1BA	ORPHA:853
HP:0000967	Petechiae	7454	WAS	OMIM:301000
HP:0000967	Petechiae	7454	WAS	ORPHA:906
HP:0000967	Petechiae	7454	WAS	OMIM:313900
HP:0000967	Petechiae	2812	GP1BB	ORPHA:274
HP:0000967	Petechiae	2812	GP1BB	ORPHA:853
HP:0000967	Petechiae	2815	GP9	ORPHA:274
HP:0000967	Petechiae	7450	VWF	OMIM:193400
HP:0000967	Petechiae	54809	SAMD9	OMIM:617053
HP:0000967	Petechiae	83706	FERMT3	OMIM:612840
HP:0000967	Petechiae	7456	WIPF1	ORPHA:906
HP:0000967	Petechiae	811	CALR	ORPHA:824
HP:0000967	Petechiae	4352	MPL	ORPHA:824
HP:0000967	Petechiae	3717	JAK2	ORPHA:824
HP:0000967	Petechiae	54790	TET2	ORPHA:824
HP:0000967	Petechiae	23474	ETHE1	OMIM:602473
HP:0000967	Petechiae	23474	ETHE1	ORPHA:51188
HP:0000967	Petechiae	2629	GBA1	OMIM:608013
HP:0000967	Petechiae	5551	PRF1	ORPHA:540
HP:0000967	Petechiae	8676	STX11	ORPHA:540
HP:0000967	Petechiae	201294	UNC13D	ORPHA:540
HP:0000967	Petechiae	6813	STXBP2	ORPHA:540
HP:0000967	Petechiae	2157	F8	OMIM:306700
HP:0000967	Petechiae	11277	TREX1	OMIM:225750
HP:0000967	Petechiae	2623	GATA1	OMIM:300367
HP:0000967	Petechiae	2623	GATA1	OMIM:314050
HP:0000967	Petechiae	2120	ETV6	OMIM:616216
HP:0000967	Petechiae	5184	PEPD	OMIM:170100
HP:0000967	Petechiae	843	CASP10	OMIM:603909
HP:0000967	Petechiae	100506658	OCLN	OMIM:251290
HP:0000967	Petechiae	3673	ITGA2	ORPHA:853
HP:0000967	Petechiae	135228	CD109	ORPHA:853
HP:0000967	Petechiae	3690	ITGB3	ORPHA:853
HP:0000967	Petechiae	2533	FYB1	OMIM:273900
HP:0000967	Petechiae	9630	GNA14	ORPHA:1063
HP:0000967	Petechiae	348	APOE	ORPHA:158029
HP:0000967	Petechiae	1186	CLCN7	OMIM:611490
HP:0000967	Petechiae	3937	LCP2	OMIM:619374
HP:0000967	Petechiae	11274	USP18	OMIM:617397
HP:0000967	Petechiae	9103	FCGR2C	ORPHA:3002
HP:0000967	Petechiae	4668	NAGA	OMIM:609242
HP:0000967	Petechiae	6774	STAT3	ORPHA:520
HP:0000967	Petechiae	5371	PML	ORPHA:520
HP:0000967	Petechiae	5914	RARA	ORPHA:520
HP:0000967	Petechiae	359948	IRF2BP2	ORPHA:520
HP:0000967	Petechiae	81608	FIP1L1	ORPHA:520
HP:0000967	Petechiae	4869	NPM1	ORPHA:520
HP:0000967	Petechiae	5573	PRKAR1A	ORPHA:520
HP:0000967	Petechiae	54880	BCOR	ORPHA:520
HP:0000967	Petechiae	64859	NABP1	ORPHA:520
HP:0000967	Petechiae	6777	STAT5B	ORPHA:520
HP:0000967	Petechiae	4926	NUMA1	ORPHA:520
HP:0000967	Petechiae	7704	ZBTB16	ORPHA:520
HP:0000967	Petechiae	79718	TBL1XR1	ORPHA:520
HP:0000967	Petechiae	55340	GIMAP5	OMIM:619463
HP:0000967	Petechiae	64858	DCLRE1B	OMIM:620133
HP:0000967	Petechiae	3207	HOXA11	OMIM:605432
HP:0000967	Petechiae	5873	RAB27A	ORPHA:79477
HP:0000967	Petechiae	8328	GFI1B	OMIM:187900
HP:0000967	Petechiae	4758	NEU1	ORPHA:93400
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:106260
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:604292
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:103285
HP:0000968	Ectodermal dysplasia	5317	PKP1	OMIM:604536
HP:0000968	Ectodermal dysplasia	8313	AXIN2	ORPHA:401911
HP:0000968	Ectodermal dysplasia	83999	KREMEN1	OMIM:617392
HP:0000968	Ectodermal dysplasia	80326	WNT10A	OMIM:224750
HP:0000968	Ectodermal dysplasia	80326	WNT10A	ORPHA:50944
HP:0000968	Ectodermal dysplasia	2121	EVC	OMIM:225500
HP:0000968	Ectodermal dysplasia	132884	EVC2	OMIM:225500
HP:0000968	Ectodermal dysplasia	284058	KANSL1	ORPHA:363958
HP:0000968	Ectodermal dysplasia	284058	KANSL1	ORPHA:363965
HP:0000968	Ectodermal dysplasia	84876	ORAI1	OMIM:612782
HP:0000968	Ectodermal dysplasia	5818	NECTIN1	OMIM:225060
HP:0000968	Ectodermal dysplasia	5818	NECTIN1	ORPHA:3253
HP:0000968	Ectodermal dysplasia	81607	NECTIN4	OMIM:613573
HP:0000968	Ectodermal dysplasia	1001	CDH3	OMIM:225280
HP:0000968	Ectodermal dysplasia	57539	WDR35	OMIM:613610
HP:0000968	Ectodermal dysplasia	56916	SMARCAD1	OMIM:129200
HP:0000968	Ectodermal dysplasia	8517	IKBKG	OMIM:300291
HP:0000968	Ectodermal dysplasia	55764	IFT122	OMIM:218330
HP:0000968	Ectodermal dysplasia	10804	GJB6	OMIM:129500
HP:0000968	Ectodermal dysplasia	51360	MBTPS2	OMIM:308205
HP:0000968	Ectodermal dysplasia	112752	IFT43	OMIM:614099
HP:0000968	Ectodermal dysplasia	22861	NLRP1	OMIM:615225
HP:0000968	Ectodermal dysplasia	3229	HOXC13	OMIM:614931
HP:0000968	Ectodermal dysplasia	121391	KRT74	OMIM:614929
HP:0000968	Ectodermal dysplasia	3891	KRT85	OMIM:602032
HP:0000968	Ectodermal dysplasia	4792	NFKBIA	OMIM:612132
HP:0000968	Ectodermal dysplasia	526	ATP6V1B2	OMIM:124480
HP:0000968	Ectodermal dysplasia	128178	EDARADD	OMIM:614940
HP:0000968	Ectodermal dysplasia	128178	EDARADD	OMIM:224900
HP:0000968	Ectodermal dysplasia	10913	EDAR	OMIM:224900
HP:0000968	Ectodermal dysplasia	1896	EDA	OMIM:305100
HP:0000969	Edema	5626	PROP1	ORPHA:226307
HP:0000969	Edema	89884	LHX4	ORPHA:226307
HP:0000969	Edema	8022	LHX3	ORPHA:226307
HP:0000969	Edema	5449	POU1F1	ORPHA:226307
HP:0000969	Edema	8820	HESX1	ORPHA:226307
HP:0000969	Edema	405753	DUOXA2	ORPHA:95716
HP:0000969	Edema	6528	SLC5A5	ORPHA:95716
HP:0000969	Edema	7038	TG	ORPHA:95716
HP:0000969	Edema	7173	TPO	ORPHA:95716
HP:0000969	Edema	389434	IYD	ORPHA:95716
HP:0000969	Edema	50506	DUOX2	ORPHA:95716
HP:0000969	Edema	9401	RECQL4	ORPHA:221016
HP:0000969	Edema	4758	NEU1	OMIM:256550
HP:0000969	Edema	7512	XPNPEP2	ORPHA:100057
HP:0000969	Edema	5340	PLG	OMIM:619360
HP:0000969	Edema	284	ANGPT1	OMIM:619361
HP:0000969	Edema	213	ALB	ORPHA:86816
HP:0000969	Edema	84868	HAVCR2	OMIM:618398
HP:0000969	Edema	26509	MYOF	OMIM:619366
HP:0000969	Edema	64711	HS3ST6	OMIM:619367
HP:0000969	Edema	3827	KNG1	OMIM:619363
HP:0000969	Edema	710	SERPING1	ORPHA:100050
HP:0000969	Edema	7252	TSHB	ORPHA:90674
HP:0000969	Edema	2161	F12	OMIM:610618
HP:0000969	Edema	64682	ANAPC1	ORPHA:221008
HP:0000969	Edema	291	SLC25A4	ORPHA:254892
HP:0000969	Edema	56652	TWNK	ORPHA:254892
HP:0000969	Edema	11232	POLG2	ORPHA:254892
HP:0000969	Edema	50484	RRM2B	ORPHA:254892
HP:0000969	Edema	3155	HMGCL	ORPHA:20
HP:0000969	Edema	2235	FECH	OMIM:177000
HP:0000969	Edema	2235	FECH	ORPHA:79278
HP:0000969	Edema	5076	PAX2	ORPHA:97362
HP:0000969	Edema	5076	PAX2	ORPHA:656
HP:0000969	Edema	5076	PAX2	OMIM:120330
HP:0000969	Edema	5087	PBX1	ORPHA:97362
HP:0000969	Edema	657	BMPR1A	ORPHA:329971
HP:0000969	Edema	4089	SMAD4	ORPHA:329971
HP:0000969	Edema	2022	ENG	ORPHA:329971
HP:0000969	Edema	57122	NUP107	OMIM:618348
HP:0000969	Edema	57122	NUP107	ORPHA:656
HP:0000969	Edema	79650	USB1	OMIM:604173
HP:0000969	Edema	3909	LAMA3	ORPHA:79404
HP:0000969	Edema	3918	LAMC2	ORPHA:79404
HP:0000969	Edema	3914	LAMB3	ORPHA:79404
HP:0000969	Edema	56945	MRPS22	OMIM:611719
HP:0000969	Edema	2073	ERCC5	OMIM:616570
HP:0000969	Edema	396	ARHGDIA	OMIM:615244
HP:0000969	Edema	396	ARHGDIA	ORPHA:656
HP:0000969	Edema	7253	TSHR	ORPHA:90673
HP:0000969	Edema	4868	NPHS1	OMIM:256300
HP:0000969	Edema	4868	NPHS1	ORPHA:656
HP:0000969	Edema	2733	GLE1	OMIM:253310
HP:0000969	Edema	23607	CD2AP	ORPHA:656
HP:0000969	Edema	9688	NUP93	ORPHA:656
HP:0000969	Edema	4643	MYO1E	ORPHA:656
HP:0000969	Edema	4643	MYO1E	OMIM:614131
HP:0000969	Edema	64423	INF2	ORPHA:656
HP:0000969	Edema	26130	GAPVD1	ORPHA:656
HP:0000969	Edema	7490	WT1	ORPHA:656
HP:0000969	Edema	51479	ANKFY1	ORPHA:656
HP:0000969	Edema	54443	ANLN	ORPHA:656
HP:0000969	Edema	5800	PTPRO	ORPHA:656
HP:0000969	Edema	5800	PTPRO	OMIM:614196
HP:0000969	Edema	286204	CRB2	ORPHA:656
HP:0000969	Edema	23165	NUP205	ORPHA:656
HP:0000969	Edema	2013	EMP2	ORPHA:656
HP:0000969	Edema	79023	NUP37	ORPHA:656
HP:0000969	Edema	51196	PLCE1	ORPHA:656
HP:0000969	Edema	51196	PLCE1	OMIM:610725
HP:0000969	Edema	79902	NUP85	ORPHA:656
HP:0000969	Edema	1285	COL4A3	ORPHA:656
HP:0000969	Edema	79934	COQ8B	ORPHA:656
HP:0000969	Edema	79934	COQ8B	OMIM:615573
HP:0000969	Edema	23279	NUP160	ORPHA:656
HP:0000969	Edema	9863	MAGI2	ORPHA:656
HP:0000969	Edema	7225	TRPC6	ORPHA:656
HP:0000969	Edema	8542	APOL1	ORPHA:656
HP:0000969	Edema	54885	TBC1D8B	ORPHA:656
HP:0000969	Edema	7827	NPHS2	ORPHA:656
HP:0000969	Edema	7827	NPHS2	OMIM:600995
HP:0000969	Edema	83478	ARHGAP24	ORPHA:656
HP:0000969	Edema	23500	DAAM2	ORPHA:656
HP:0000969	Edema	55746	NUP133	ORPHA:656
HP:0000969	Edema	3849	KRT2	ORPHA:455
HP:0000969	Edema	182	JAG1	OMIM:619574
HP:0000969	Edema	3913	LAMB2	OMIM:609049
HP:0000969	Edema	79087	ALG12	OMIM:607143
HP:0000969	Edema	79087	ALG12	ORPHA:79324
HP:0000969	Edema	56984	PSMG2	OMIM:619183
HP:0000969	Edema	3860	KRT13	OMIM:615785
HP:0000969	Edema	4598	MVK	OMIM:610377
HP:0000969	Edema	51021	MRPS16	OMIM:610498
HP:0000969	Edema	55644	OSGEP	OMIM:617729
HP:0000969	Edema	4069	LYZ	OMIM:105200
HP:0000969	Edema	335	APOA1	OMIM:105200
HP:0000969	Edema	567	B2M	OMIM:105200
HP:0000969	Edema	129563	DIS3L2	OMIM:267000
HP:0000969	Edema	1187	CLCNKA	OMIM:613090
HP:0000969	Edema	1188	CLCNKB	OMIM:613090
HP:0000969	Edema	8879	SGPL1	OMIM:617575
HP:0000969	Edema	51002	TPRKB	OMIM:617731
HP:0000969	Edema	6023	RMRP	ORPHA:39041
HP:0000969	Edema	55636	CHD7	ORPHA:39041
HP:0000969	Edema	3981	LIG4	ORPHA:39041
HP:0000969	Edema	5896	RAG1	ORPHA:39041
HP:0000969	Edema	5897	RAG2	ORPHA:39041
HP:0000969	Edema	64421	DCLRE1C	ORPHA:39041
HP:0000969	Edema	100	ADA	ORPHA:39041
HP:0000969	Edema	3575	IL7R	ORPHA:39041
HP:0000969	Edema	3561	IL2RG	ORPHA:39041
HP:0000969	Edema	2776	GNAQ	ORPHA:624
HP:0000969	Edema	5551	PRF1	OMIM:603553
HP:0000969	Edema	8676	STX11	OMIM:603552
HP:0000969	Edema	100147744	RNU7-1	OMIM:619487
HP:0000969	Edema	55704	CCDC88A	OMIM:617507
HP:0000969	Edema	2683	B4GALT1	ORPHA:79332
HP:0000969	Edema	2065	ERBB3	OMIM:607598
HP:0000969	Edema	38	ACAT1	ORPHA:134
HP:0000969	Edema	4846	NOS3	OMIM:189800
HP:0000969	Edema	4351	MPI	ORPHA:79319
HP:0000969	Edema	4351	MPI	OMIM:602579
HP:0000969	Edema	1493	CTLA4	ORPHA:3162
HP:0000969	Edema	1493	CTLA4	ORPHA:2584
HP:0000969	Edema	940	CD28	ORPHA:3162
HP:0000969	Edema	940	CD28	ORPHA:2584
HP:0000969	Edema	7133	TNFRSF1B	ORPHA:3162
HP:0000969	Edema	7133	TNFRSF1B	ORPHA:2584
HP:0000969	Edema	348	APOE	ORPHA:158029
HP:0000969	Edema	79989	IFT56	OMIM:619534
HP:0000969	Edema	6521	SLC4A1	ORPHA:3202
HP:0000969	Edema	3783	KCNN4	ORPHA:3202
HP:0000969	Edema	10682	EBP	OMIM:302960
HP:0000969	Edema	1832	DSP	OMIM:605676
HP:0000969	Edema	1604	CD55	OMIM:226300
HP:0000969	Edema	9742	IFT140	OMIM:266920
HP:0000969	Edema	29968	PSAT1	OMIM:616038
HP:0000969	Edema	57107	PDSS2	OMIM:614652
HP:0000969	Edema	203068	TUBB	ORPHA:2505
HP:0000969	Edema	10982	MAPRE2	ORPHA:2505
HP:0000969	Edema	1144	CHRND	OMIM:253290
HP:0000969	Edema	1134	CHRNA1	OMIM:253290
HP:0000969	Edema	6935	ZEB1	ORPHA:98974
HP:0000969	Edema	123624	AGBL1	ORPHA:98974
HP:0000969	Edema	83959	SLC4A11	ORPHA:98974
HP:0000969	Edema	1296	COL8A2	ORPHA:98974
HP:0000969	Edema	64132	XYLT2	OMIM:605822
HP:0000969	Edema	998	CDC42	ORPHA:487796
HP:0000969	Edema	998	CDC42	OMIM:616737
HP:0000969	Edema	5784	PTPN14	OMIM:613611
HP:0000969	Edema	118429	ANTXR2	ORPHA:2176
HP:0000969	Edema	5728	PTEN	ORPHA:109
HP:0000969	Edema	5728	PTEN	ORPHA:744
HP:0000969	Edema	3636	INPPL1	ORPHA:3144
HP:0000969	Edema	85358	SHANK3	OMIM:606232
HP:0000969	Edema	85358	SHANK3	ORPHA:48652
HP:0000969	Edema	5649	RELN	OMIM:257320
HP:0000969	Edema	2624	GATA2	ORPHA:3226
HP:0000969	Edema	2624	GATA2	OMIM:614038
HP:0000969	Edema	207	AKT1	ORPHA:744
HP:0000969	Edema	10060	ABCC9	OMIM:239850
HP:0000969	Edema	285	ANGPT2	OMIM:619369
HP:0000969	Edema	5594	MAPK1	OMIM:619087
HP:0000969	Edema	8642	DCHS1	ORPHA:314679
HP:0000969	Edema	7248	TSC1	ORPHA:538
HP:0000969	Edema	7249	TSC2	ORPHA:538
HP:0000969	Edema	114548	NLRP3	OMIM:607115
HP:0000969	Edema	4693	NDP	ORPHA:891
HP:0000969	Edema	1499	CTNNB1	ORPHA:891
HP:0000969	Edema	23554	TSPAN12	ORPHA:891
HP:0000969	Edema	4041	LRP5	ORPHA:891
HP:0000969	Edema	79797	ZNF408	ORPHA:891
HP:0000969	Edema	8322	FZD4	ORPHA:891
HP:0000969	Edema	2717	GLA	OMIM:301500
HP:0000969	Edema	2717	GLA	ORPHA:324
HP:0000969	Edema	1020	CDK5	OMIM:616342
HP:0000969	Edema	8260	NAA10	OMIM:300855
HP:0000969	Edema	4668	NAGA	ORPHA:79280
HP:0000969	Edema	4668	NAGA	OMIM:609242
HP:0000969	Edema	4668	NAGA	ORPHA:79279
HP:0000969	Edema	5604	MAP2K1	ORPHA:1340
HP:0000969	Edema	5604	MAP2K1	OMIM:163950
HP:0000969	Edema	5605	MAP2K2	ORPHA:1340
HP:0000969	Edema	3845	KRAS	ORPHA:1340
HP:0000969	Edema	3845	KRAS	ORPHA:648
HP:0000969	Edema	3845	KRAS	OMIM:600268
HP:0000969	Edema	22800	RRAS2	ORPHA:648
HP:0000969	Edema	867	CBL	ORPHA:648
HP:0000969	Edema	867	CBL	OMIM:613563
HP:0000969	Edema	6237	RRAS	ORPHA:648
HP:0000969	Edema	5894	RAF1	ORPHA:648
HP:0000969	Edema	22808	MRAS	ORPHA:648
HP:0000969	Edema	200734	SPRED2	ORPHA:648
HP:0000969	Edema	4893	NRAS	ORPHA:648
HP:0000969	Edema	6654	SOS1	ORPHA:648
HP:0000969	Edema	6655	SOS2	ORPHA:648
HP:0000969	Edema	5781	PTPN11	ORPHA:648
HP:0000969	Edema	5781	PTPN11	OMIM:163950
HP:0000969	Edema	5922	RASA2	ORPHA:648
HP:0000969	Edema	23592	LEMD3	ORPHA:1306
HP:0000969	Edema	8517	IKBKG	OMIM:300291
HP:0000969	Edema	3265	HRAS	ORPHA:2874
HP:0000969	Edema	5290	PIK3CA	OMIM:613089
HP:0000969	Edema	80208	SPG11	ORPHA:2822
HP:0000969	Edema	374654	KIF7	OMIM:607131
HP:0000969	Edema	9663	LPIN2	OMIM:609628
HP:0000969	Edema	6399	TRAPPC2	ORPHA:93284
HP:0000969	Edema	90268	OTULIN	OMIM:617099
HP:0000969	Edema	30061	SLC40A1	ORPHA:139491
HP:0000969	Edema	8838	CCN6	OMIM:208230
HP:0000969	Edema	8838	CCN6	ORPHA:1159
HP:0000969	Edema	3248	HPGD	ORPHA:1525
HP:0000969	Edema	3248	HPGD	ORPHA:2796
HP:0000969	Edema	5925	RB1	ORPHA:668
HP:0000969	Edema	11200	CHEK2	ORPHA:668
HP:0000969	Edema	2243	FGA	ORPHA:98880
HP:0000969	Edema	2244	FGB	ORPHA:98880
HP:0000969	Edema	2266	FGG	ORPHA:98880
HP:0000969	Edema	3560	IL2RB	ORPHA:85408
HP:0000969	Edema	79722	ANKRD55	ORPHA:85408
HP:0000969	Edema	26191	PTPN22	ORPHA:85408
HP:0000969	Edema	26191	PTPN22	OMIM:180300
HP:0000969	Edema	919	CD247	ORPHA:85408
HP:0000969	Edema	3559	IL2RA	ORPHA:85408
HP:0000969	Edema	5771	PTPN2	ORPHA:85408
HP:0000969	Edema	7132	TNFRSF1A	ORPHA:329967
HP:0000969	Edema	3557	IL1RN	OMIM:612852
HP:0000969	Edema	4952	OCRL	ORPHA:534
HP:0000969	Edema	54	ACP5	OMIM:607944
HP:0000969	Edema	2157	F8	ORPHA:169805
HP:0000969	Edema	2157	F8	ORPHA:169802
HP:0000969	Edema	654	BMP6	ORPHA:465508
HP:0000969	Edema	6583	SLC22A4	OMIM:180300
HP:0000969	Edema	4261	CIITA	OMIM:180300
HP:0000969	Edema	51744	CD244	OMIM:180300
HP:0000969	Edema	4795	NFKBIL1	OMIM:180300
HP:0000969	Edema	64127	NOD2	ORPHA:90340
HP:0000969	Edema	64127	NOD2	OMIM:186580
HP:0000969	Edema	83550	GPR101	ORPHA:963
HP:0000969	Edema	9049	AIP	ORPHA:963
HP:0000969	Edema	6578	SLCO2A1	ORPHA:2796
HP:0000969	Edema	3081	HGD	ORPHA:56
HP:0000969	Edema	6850	SYK	OMIM:619381
HP:0000969	Edema	4921	DDR2	OMIM:618175
HP:0000969	Edema	2783	GNB2	OMIM:619503
HP:0000969	Edema	4982	TNFRSF11B	ORPHA:1416
HP:0000969	Edema	56172	ANKH	ORPHA:1416
HP:0000969	Edema	5337	PLD1	OMIM:212093
HP:0000969	Edema	356	FASLG	ORPHA:3261
HP:0000969	Edema	5580	PRKCD	ORPHA:3261
HP:0000969	Edema	843	CASP10	ORPHA:3261
HP:0000969	Edema	10125	RASGRP1	ORPHA:3261
HP:0000969	Edema	1836	SLC26A2	OMIM:600972
HP:0000969	Edema	1836	SLC26A2	ORPHA:93298
HP:0000969	Edema	5167	ENPP1	ORPHA:51608
HP:0000969	Edema	368	ABCC6	ORPHA:51608
HP:0000969	Edema	4750	NEK1	OMIM:263520
HP:0000969	Edema	2632	GBE1	OMIM:232500
HP:0000969	Edema	9508	ADAMTS3	ORPHA:2136
HP:0000969	Edema	79633	FAT4	ORPHA:2136
HP:0000969	Edema	57539	WDR35	OMIM:613610
HP:0000969	Edema	57539	WDR35	ORPHA:93271
HP:0000969	Edema	57539	WDR35	OMIM:614091
HP:0000969	Edema	5745	PTH1R	OMIM:215045
HP:0000969	Edema	5745	PTH1R	ORPHA:50945
HP:0000969	Edema	2990	GUSB	ORPHA:584
HP:0000969	Edema	2990	GUSB	OMIM:253220
HP:0000969	Edema	79796	ALG9	ORPHA:79328
HP:0000969	Edema	4247	MGAT2	ORPHA:79329
HP:0000969	Edema	6888	TALDO1	ORPHA:101028
HP:0000969	Edema	55112	DYNC2I1	ORPHA:93271
HP:0000969	Edema	57560	IFT80	ORPHA:93271
HP:0000969	Edema	79659	DYNC2H1	ORPHA:93271
HP:0000969	Edema	89891	DYNC2I2	ORPHA:93271
HP:0000969	Edema	91754	NEK9	OMIM:617022
HP:0000969	Edema	3030	HADHA	OMIM:609015
HP:0000969	Edema	2122	MECOM	OMIM:616738
HP:0000969	Edema	2720	GLB1	ORPHA:79255
HP:0000969	Edema	2720	GLB1	OMIM:230500
HP:0000969	Edema	1146	CHRNG	OMIM:265000
HP:0000969	Edema	427	ASAH1	ORPHA:333
HP:0000969	Edema	9321	TRIP11	OMIM:200600
HP:0000969	Edema	9321	TRIP11	ORPHA:93299
HP:0000969	Edema	26503	SLC17A5	OMIM:269920
HP:0000969	Edema	9786	KIAA0586	OMIM:616546
HP:0000969	Edema	10661	KLF1	OMIM:613673
HP:0000969	Edema	6261	RYR1	OMIM:255320
HP:0000969	Edema	7476	WNT7A	ORPHA:2879
HP:0000969	Edema	25974	MMACHC	ORPHA:79282
HP:0000969	Edema	2317	FLNB	ORPHA:1263
HP:0000969	Edema	55109	AGGF1	ORPHA:90308
HP:0000969	Edema	3339	HSPG2	ORPHA:1865
HP:0000969	Edema	79053	ALG8	ORPHA:79325
HP:0000969	Edema	2035	EPB41	ORPHA:288
HP:0000969	Edema	2995	GYPC	ORPHA:288
HP:0000969	Edema	6710	SPTB	ORPHA:288
HP:0000969	Edema	6708	SPTA1	ORPHA:288
HP:0000969	Edema	9896	FIG4	OMIM:216340
HP:0000969	Edema	9896	FIG4	ORPHA:3472
HP:0000969	Edema	191	AHCY	ORPHA:88618
HP:0000969	Edema	7809	BSND	OMIM:602522
HP:0000969	Edema	55697	VAC14	ORPHA:3472
HP:0000969	Edema	1301	COL11A1	OMIM:228520
HP:0000969	Edema	4905	NSF	OMIM:619340
HP:0000969	Edema	5277	PIGA	OMIM:300868
HP:0000969	Edema	6007	RHD	OMIM:619462
HP:0000969	Edema	146059	CDAN1	OMIM:224120
HP:0000969	Edema	4591	TRIM37	OMIM:253250
HP:0000969	Edema	3039	HBA1	ORPHA:163596
HP:0000969	Edema	3040	HBA2	ORPHA:163596
HP:0000969	Edema	3930	LBR	OMIM:215140
HP:0000969	Edema	55388	MCM10	OMIM:619313
HP:0000969	Edema	4593	MUSK	OMIM:208150
HP:0000969	Edema	5530	PPP3CA	OMIM:618265
HP:0000969	Edema	1278	COL1A2	OMIM:166210
HP:0000969	Edema	55901	THSD1	OMIM:620244
HP:0000969	Edema	54675	CRLS1	OMIM:620167
HP:0000969	Edema	2629	GBA1	OMIM:608013
HP:0000969	Edema	7389	UROD	ORPHA:95159
HP:0000969	Edema	6331	SCN5A	OMIM:603830
HP:0000969	Edema	5313	PKLR	OMIM:266200
HP:0000969	Edema	6135	RPL11	ORPHA:124
HP:0000969	Edema	6138	RPL15	ORPHA:124
HP:0000969	Edema	6229	RPS24	ORPHA:124
HP:0000969	Edema	6125	RPL5	ORPHA:124
HP:0000969	Edema	6204	RPS10	ORPHA:124
HP:0000969	Edema	6224	RPS20	ORPHA:124
HP:0000969	Edema	6165	RPL35A	ORPHA:124
HP:0000969	Edema	2623	GATA1	ORPHA:124
HP:0000969	Edema	2623	GATA1	ORPHA:79277
HP:0000969	Edema	6223	RPS19	ORPHA:124
HP:0000969	Edema	6232	RPS27	ORPHA:124
HP:0000969	Edema	6231	RPS26	ORPHA:124
HP:0000969	Edema	11224	RPL35	ORPHA:124
HP:0000969	Edema	6160	RPL31	ORPHA:124
HP:0000969	Edema	6218	RPS17	ORPHA:124
HP:0000969	Edema	6201	RPS7	ORPHA:124
HP:0000969	Edema	6155	RPL27	ORPHA:124
HP:0000969	Edema	6154	RPL26	ORPHA:124
HP:0000969	Edema	6210	RPS15A	ORPHA:124
HP:0000969	Edema	90121	TSR2	ORPHA:124
HP:0000969	Edema	6141	RPL18	ORPHA:124
HP:0000969	Edema	6235	RPS29	ORPHA:124
HP:0000969	Edema	6234	RPS28	ORPHA:124
HP:0000969	Edema	51816	ADA2	ORPHA:124
HP:0000969	Edema	57538	ALPK3	OMIM:618052
HP:0000969	Edema	4716	NDUFB10	OMIM:619003
HP:0000969	Edema	23395	LARS2	OMIM:617021
HP:0000969	Edema	79587	CARS2	ORPHA:477774
HP:0000969	Edema	55278	QRSL1	OMIM:618835
HP:0000969	Edema	23426	GRIP1	OMIM:617667
HP:0000969	Edema	5188	GATB	OMIM:618838
HP:0000969	Edema	5921	RASA1	ORPHA:137667
HP:0000969	Edema	29969	MDFIC	OMIM:620014
HP:0000969	Edema	23169	SLC35D1	OMIM:269250
HP:0000969	Edema	7390	UROS	ORPHA:79277
HP:0000969	Edema	283459	GATC	OMIM:618839
HP:0000969	Edema	56052	ALG1	OMIM:608540
HP:0000969	Edema	5476	CTSA	OMIM:256540
HP:0000969	Edema	5373	PMM2	OMIM:212065
HP:0000969	Edema	6611	SMS	ORPHA:3063
HP:0000969	Edema	55739	NAXD	OMIM:618321
HP:0000969	Edema	51241	COX16	OMIM:619355
HP:0000969	Edema	11019	LIAS	OMIM:614462
HP:0000969	Edema	34	ACADM	OMIM:201450
HP:0000969	Edema	1629	DBT	OMIM:248600
HP:0000969	Edema	593	BCKDHA	OMIM:248600
HP:0000969	Edema	594	BCKDHB	OMIM:248600
HP:0000969	Edema	4724	NDUFS4	OMIM:252010
HP:0000969	Edema	5009	OTC	OMIM:311250
HP:0000969	Edema	3785	KCNQ2	ORPHA:439218
HP:0000969	Edema	10165	SLC25A13	ORPHA:247585
HP:0000969	Edema	10165	SLC25A13	OMIM:603471
HP:0000969	Edema	51692	CPSF3	OMIM:619876
HP:0000969	Edema	435	ASL	OMIM:207900
HP:0000969	Edema	708	C1QBP	OMIM:617713
HP:0000969	Edema	445	ASS1	OMIM:215700
HP:0000969	Edema	773	CACNA1A	ORPHA:569
HP:0000969	Edema	112476	PRRT2	ORPHA:569
HP:0000969	Edema	6323	SCN1A	ORPHA:569
HP:0000969	Edema	477	ATP1A2	ORPHA:569
HP:0000969	Edema	477	ATP1A2	OMIM:602481
HP:0000969	Edema	5903	RANBP2	OMIM:608033
HP:0000969	Edema	5903	RANBP2	ORPHA:88619
HP:0000969	Edema	128240	NAXE	OMIM:617186
HP:0000969	Edema	1376	CPT2	OMIM:614212
HP:0000969	Edema	28976	ACAD9	OMIM:611126
HP:0000969	Edema	28976	ACAD9	ORPHA:99901
HP:0000969	Edema	1373	CPS1	OMIM:237300
HP:0000969	Edema	3908	LAMA2	ORPHA:258
HP:0000969	Edema	7187	TRAF3	ORPHA:1930
HP:0000969	Edema	81622	UNC93B1	ORPHA:1930
HP:0000969	Edema	148022	TICAM1	ORPHA:1930
HP:0000969	Edema	7098	TLR3	ORPHA:1930
HP:0000969	Edema	29110	TBK1	ORPHA:1930
HP:0000969	Edema	83483	PLVAP	OMIM:618183
HP:0000969	Edema	2294	FOXF1	OMIM:265380
HP:0000969	Edema	144811	LACC1	ORPHA:85414
HP:0000969	Edema	4282	MIF	ORPHA:85414
HP:0000969	Edema	3123	HLA-DRB1	ORPHA:85414
HP:0000969	Edema	3123	HLA-DRB1	ORPHA:545
HP:0000969	Edema	3123	HLA-DRB1	OMIM:181000
HP:0000969	Edema	3123	HLA-DRB1	ORPHA:797
HP:0000969	Edema	3569	IL6	ORPHA:85414
HP:0000969	Edema	51422	PRKAG2	OMIM:261740
HP:0000969	Edema	595	CCND1	ORPHA:29073
HP:0000969	Edema	8216	LZTR1	OMIM:616564
HP:0000969	Edema	3702	ITK	OMIM:613011
HP:0000969	Edema	9780	PIEZO1	OMIM:616843
HP:0000969	Edema	6016	RIT1	OMIM:615355
HP:0000969	Edema	2548	GAA	OMIM:232300
HP:0000969	Edema	25821	MTO1	OMIM:614702
HP:0000969	Edema	6775	STAT4	ORPHA:93552
HP:0000969	Edema	6775	STAT4	ORPHA:117
HP:0000969	Edema	6696	SPP1	ORPHA:93552
HP:0000969	Edema	3654	IRAK1	ORPHA:93552
HP:0000969	Edema	1776	DNASE1L3	ORPHA:36412
HP:0000969	Edema	596	BCL2	ORPHA:545
HP:0000969	Edema	3492	IGH	ORPHA:545
HP:0000969	Edema	604	BCL6	ORPHA:545
HP:0000969	Edema	1080	CFTR	OMIM:167800
HP:0000969	Edema	11330	CTRC	OMIM:167800
HP:0000969	Edema	6690	SPINK1	OMIM:167800
HP:0000969	Edema	5645	PRSS2	OMIM:167800
HP:0000969	Edema	5644	PRSS1	OMIM:167800
HP:0000969	Edema	81	ACTN4	OMIM:603278
HP:0000969	Edema	4210	MEFV	OMIM:249100
HP:0000969	Edema	4210	MEFV	ORPHA:117
HP:0000969	Edema	57169	ZNFX1	OMIM:619644
HP:0000969	Edema	2050	EPHB4	OMIM:617300
HP:0000969	Edema	2050	EPHB4	ORPHA:90186
HP:0000969	Edema	84162	BLTP1	OMIM:617822
HP:0000969	Edema	202018	TAPT1	OMIM:616897
HP:0000969	Edema	3832	KIF11	ORPHA:2526
HP:0000969	Edema	3075	CFH	ORPHA:244242
HP:0000969	Edema	3426	CFI	ORPHA:244242
HP:0000969	Edema	4179	CD46	ORPHA:244242
HP:0000969	Edema	101101692	HELLPAR	ORPHA:244242
HP:0000969	Edema	54345	SOX18	ORPHA:69735
HP:0000969	Edema	10551	AGR2	OMIM:620233
HP:0000969	Edema	8314	BAP1	ORPHA:50251
HP:0000969	Edema	64135	IFIH1	OMIM:182250
HP:0000969	Edema	2859	GPR35	ORPHA:171
HP:0000969	Edema	10507	SEMA4D	ORPHA:171
HP:0000969	Edema	4485	MST1	ORPHA:171
HP:0000969	Edema	6925	TCF4	ORPHA:171
HP:0000969	Edema	50619	DEF6	OMIM:619573
HP:0000969	Edema	11274	USP18	OMIM:617397
HP:0000969	Edema	738	VPS51	OMIM:618606
HP:0000969	Edema	56244	BTNL2	OMIM:612387
HP:0000969	Edema	56244	BTNL2	ORPHA:797
HP:0000969	Edema	2492	FSHR	ORPHA:64739
HP:0000969	Edema	147372	CCBE1	OMIM:235510
HP:0000969	Edema	1130	LYST	ORPHA:167
HP:0000969	Edema	4615	MYD88	ORPHA:33226
HP:0000969	Edema	1536	CYBB	OMIM:306400
HP:0000969	Edema	857	CAV1	OMIM:606721
HP:0000969	Edema	440275	EIF2AK4	ORPHA:199241
HP:0000969	Edema	10203	CALCRL	OMIM:618773
HP:0000969	Edema	79415	CYBC1	OMIM:618935
HP:0000969	Edema	9971	NR1H4	OMIM:617049
HP:0000969	Edema	950	SCARB2	OMIM:254900
HP:0000969	Edema	3077	HFE	OMIM:235200
HP:0000969	Edema	650	BMP2	OMIM:235200
HP:0000969	Edema	149233	IL23R	ORPHA:117
HP:0000969	Edema	3586	IL10	ORPHA:117
HP:0000969	Edema	1230	CCR1	ORPHA:117
HP:0000969	Edema	355	FAS	ORPHA:117
HP:0000969	Edema	3592	IL12A	ORPHA:117
HP:0000969	Edema	101928376	IL12A-AS1	ORPHA:117
HP:0000969	Edema	3106	HLA-B	ORPHA:117
HP:0000969	Edema	7099	TLR4	ORPHA:117
HP:0000969	Edema	3459	IFNGR1	ORPHA:117
HP:0000969	Edema	720	C4A	ORPHA:117
HP:0000969	Edema	337867	UBAC2	ORPHA:117
HP:0000969	Edema	51752	ERAP1	ORPHA:117
HP:0000969	Edema	8302	KLRC4	ORPHA:117
HP:0000969	Edema	2324	FLT4	OMIM:153100
HP:0000969	Edema	2324	FLT4	ORPHA:79452
HP:0000969	Edema	2303	FOXC2	OMIM:153400
HP:0000969	Edema	2303	FOXC2	ORPHA:33001
HP:0000969	Edema	9620	CELSR1	OMIM:619319
HP:0000969	Edema	1786	DNMT1	ORPHA:314404
HP:0000969	Edema	1786	DNMT1	OMIM:604121
HP:0000969	Edema	57165	GJC2	ORPHA:79452
HP:0000969	Edema	27235	COQ2	ORPHA:255249
HP:0000969	Edema	4638	MYLK	OMIM:249210
HP:0000969	Edema	285489	DOK7	OMIM:618389
HP:0000969	Edema	9722	NOS1AP	OMIM:619155
HP:0000969	Edema	54916	TMEM260	OMIM:617478
HP:0000969	Edema	26227	PHGDH	OMIM:256520
HP:0000969	Edema	58	ACTA1	ORPHA:171430
HP:0000969	Edema	4703	NEB	ORPHA:171430
HP:0000969	Edema	131377	KLHL40	ORPHA:171430
HP:0000969	Edema	10324	KLHL41	ORPHA:171430
HP:0000969	Edema	56203	LMOD3	ORPHA:171430
HP:0000969	Edema	5651	TMPRSS15	OMIM:226200
HP:0000969	Edema	199857	ALG14	OMIM:619036
HP:0000969	Edema	7092	TLL1	ORPHA:99103
HP:0000969	Edema	57057	TBX20	ORPHA:99103
HP:0000969	Edema	4624	MYH6	ORPHA:99103
HP:0000969	Edema	1482	NKX2-5	ORPHA:99103
HP:0000969	Edema	70	ACTC1	ORPHA:99103
HP:0000969	Edema	10370	CITED2	ORPHA:99103
HP:0000969	Edema	2626	GATA4	ORPHA:99103
HP:0000969	Edema	2627	GATA6	ORPHA:99103
HP:0000969	Edema	8195	MKKS	OMIM:236700
HP:0000969	Edema	2335	FN1	ORPHA:84090
HP:0000969	Edema	64324	NSD1	ORPHA:821
HP:0000969	Edema	29072	SETD2	ORPHA:821
HP:0000969	Edema	10297	APC2	ORPHA:821
HP:0000969	Edema	7075	TIE1	OMIM:619401
HP:0000969	Edema	9158	FIBP	OMIM:617107
HP:0000969	Edema	5573	PRKAR1A	ORPHA:615
HP:0000969	Edema	3662	IRF4	ORPHA:3452
HP:0000969	Edema	540	ATP7B	OMIM:277900
HP:0000969	Edema	6638	SNRPN	ORPHA:98754
HP:0000969	Edema	6638	SNRPN	ORPHA:177904
HP:0000969	Edema	6638	SNRPN	ORPHA:177901
HP:0000969	Edema	4692	NDN	ORPHA:98754
HP:0000969	Edema	4692	NDN	ORPHA:177904
HP:0000969	Edema	4692	NDN	ORPHA:177901
HP:0000969	Edema	54551	MAGEL2	ORPHA:98754
HP:0000969	Edema	54551	MAGEL2	ORPHA:177904
HP:0000969	Edema	54551	MAGEL2	ORPHA:177901
HP:0000969	Edema	4948	OCA2	ORPHA:98754
HP:0000969	Edema	4948	OCA2	ORPHA:177904
HP:0000969	Edema	4948	OCA2	ORPHA:177901
HP:0000969	Edema	84196	USP48	ORPHA:96253
HP:0000969	Edema	7157	TP53	ORPHA:96253
HP:0000969	Edema	9101	USP8	ORPHA:96253
HP:0000969	Edema	64072	CDH23	ORPHA:96253
HP:0000969	Edema	2908	NR3C1	ORPHA:96253
HP:0000969	Edema	673	BRAF	ORPHA:96253
HP:0000969	Edema	546	ATRX	ORPHA:96253
HP:0000969	Edema	9326	ZNHIT3	ORPHA:2836
HP:0000969	Edema	547	KIF1A	ORPHA:2836
HP:0000969	Edema	1280	COL2A1	ORPHA:166011
HP:0000969	Edema	7424	VEGFC	OMIM:615907
HP:0000969	Edema	1277	COL1A1	ORPHA:287
HP:0000969	Edema	1289	COL5A1	ORPHA:287
HP:0000969	Edema	1290	COL5A2	ORPHA:287
HP:0000969	Edema	1009	CDH11	ORPHA:1299
HP:0000969	Edema	9509	ADAMTS2	OMIM:225410
HP:0000969	Edema	2934	GSN	ORPHA:85448
HP:0000969	Edema	23476	BRD4	ORPHA:199
HP:0000969	Edema	9126	SMC3	ORPHA:199
HP:0000969	Edema	8243	SMC1A	ORPHA:199
HP:0000969	Edema	25836	NIPBL	ORPHA:199
HP:0000969	Edema	55869	HDAC8	ORPHA:199
HP:0000969	Edema	5885	RAD21	ORPHA:199
HP:0000969	Edema	699	BUB1	OMIM:620183
HP:0000969	Edema	699	BUB1	ORPHA:1052
HP:0000969	Edema	1725	DHPS	OMIM:618480
HP:0000969	Edema	104	ADARB1	OMIM:618862
HP:0000969	Edema	29895	MYL11	OMIM:619110
HP:0000969	Edema	10274	STAG1	OMIM:617635
HP:0000969	Edema	2261	FGFR3	ORPHA:1860
HP:0000969	Edema	2261	FGFR3	ORPHA:93274
HP:0000969	Edema	6804	STX1A	ORPHA:904
HP:0000969	Edema	7461	CLIP2	ORPHA:904
HP:0000969	Edema	84277	DNAJC30	ORPHA:904
HP:0000969	Edema	8468	FKBP6	ORPHA:904
HP:0000969	Edema	5982	RFC2	ORPHA:904
HP:0000969	Edema	2969	GTF2I	ORPHA:904
HP:0000969	Edema	3984	LIMK1	ORPHA:904
HP:0000969	Edema	9569	GTF2IRD1	ORPHA:904
HP:0000969	Edema	155382	VPS37D	ORPHA:904
HP:0000969	Edema	155368	METTL27	ORPHA:904
HP:0000969	Edema	114049	BUD23	ORPHA:904
HP:0000969	Edema	7458	EIF4H	ORPHA:904
HP:0000969	Edema	84163	GTF2IRD2	ORPHA:904
HP:0000969	Edema	9275	BCL7B	ORPHA:904
HP:0000969	Edema	26608	TBL2	ORPHA:904
HP:0000969	Edema	653361	NCF1	ORPHA:904
HP:0000969	Edema	135886	TMEM270	ORPHA:904
HP:0000969	Edema	51085	MLXIPL	ORPHA:904
HP:0000969	Edema	9031	BAZ1B	ORPHA:904
HP:0000969	Edema	2006	ELN	ORPHA:904
HP:0000969	Edema	79770	TXNDC15	OMIM:619879
HP:0000969	Edema	415	ARSL	ORPHA:79345
HP:0000969	Edema	83475	DOHH	OMIM:620066
HP:0000969	Edema	3190	HNRNPK	ORPHA:352665
HP:0000969	Edema	3190	HNRNPK	ORPHA:453504
HP:0000969	Edema	23556	PIGN	ORPHA:280633
HP:0000969	Edema	9184	BUB3	ORPHA:1052
HP:0000969	Edema	9702	CEP57	ORPHA:1052
HP:0000969	Edema	9319	TRIP13	ORPHA:1052
HP:0000969	Edema	701	BUB1B	ORPHA:1052
HP:0000969	Edema	1822	ATN1	OMIM:618494
HP:0000969	Edema	55790	CSGALNACT1	OMIM:618870
HP:0000969	Edema	10082	GPC6	ORPHA:93329
HP:0000969	Edema	4953	ODC1	ORPHA:544488
HP:0000969	Edema	1717	DHCR7	ORPHA:818
HP:0000969	Edema	168667	BMPER	OMIM:608022
HP:0000969	Edema	3105	HLA-A	ORPHA:179
HP:0000969	Edema	403	ARL3	OMIM:618173
HP:0000969	Edema	5961	PRPH2	ORPHA:52427
HP:0000969	Edema	6017	RLBP1	ORPHA:52427
HP:0000969	Edema	6010	RHO	ORPHA:52427
HP:0000969	Edema	5959	RDH5	ORPHA:52427
HP:0000969	Edema	10594	PRPF8	OMIM:600059
HP:0000969	Edema	23370	ARHGEF18	OMIM:617433
HP:0000969	Edema	83552	MFRP	OMIM:611040
HP:0000969	Edema	55624	POMGNT1	OMIM:617123
HP:0000969	Edema	5148	PDE6G	OMIM:613582
HP:0000969	Edema	92840	REEP6	OMIM:617304
HP:0000969	Edema	94137	RP1L1	OMIM:618826
HP:0000969	Edema	285440	CYP4V2	ORPHA:41751
HP:0000969	Edema	79947	DHDDS	OMIM:613861
HP:0000969	Edema	3419	IDH3A	OMIM:619007
HP:0000969	Edema	57670	KIAA1549	OMIM:618613
HP:0000969	Edema	55975	KLHL7	OMIM:612943
HP:0000969	Edema	5159	PDGFRB	OMIM:601812
HP:0000969	Edema	7010	TEK	OMIM:617272
HP:0000969	Edema	30813	VSX1	ORPHA:98973
HP:0000969	Edema	58495	OVOL2	ORPHA:98973
HP:0000969	Edema	79977	GRHL2	ORPHA:98973
HP:0000969	Edema	1798	DPAGT1	ORPHA:86309
HP:0000969	Edema	197131	UBR1	OMIM:243800
HP:0000969	Edema	10056	FARSB	OMIM:613658
HP:0000969	Edema	5428	POLG	OMIM:203700
HP:0000969	Edema	9373	PLAA	ORPHA:521426
HP:0000969	Edema	7051	TGM1	ORPHA:281127
HP:0000969	Edema	11342	RNF13	ORPHA:544503
HP:0000969	Edema	9939	RBM8A	OMIM:274000
HP:0000969	Edema	10568	SLC34A2	ORPHA:60025
HP:0000969	Edema	84665	MYPN	ORPHA:75249
HP:0000969	Edema	2318	FLNC	ORPHA:75249
HP:0000969	Edema	7139	TNNT2	ORPHA:75249
HP:0000969	Edema	7137	TNNI3	ORPHA:75249
HP:0000969	Edema	10112	KIF20A	ORPHA:75249
HP:0000969	Edema	7994	KAT6A	OMIM:616268
HP:0000969	Edema	22907	DHX30	OMIM:617804
HP:0000969	Edema	55315	SLC29A3	ORPHA:168569
HP:0000969	Edema	116931	MED12L	OMIM:618872
HP:0000969	Edema	54453	RIN2	ORPHA:217335
HP:0000969	Edema	55691	FRMD4A	OMIM:616819
HP:0000969	Edema	57511	COG6	OMIM:614576
HP:0000969	Edema	7428	VHL	ORPHA:892
HP:0000969	Edema	10002	NR2E3	OMIM:268100
HP:0000969	Edema	26121	PRPF31	OMIM:600138
HP:0000969	Edema	11277	TREX1	ORPHA:247691
HP:0000969	Edema	11277	TREX1	OMIM:192315
HP:0000969	Edema	4901	NRL	OMIM:613750
HP:0000969	Edema	6100	RP9	OMIM:180104
HP:0000969	Edema	51371	POMP	OMIM:618048
HP:0000969	Edema	5692	PSMB4	OMIM:617591
HP:0000969	Edema	5698	PSMB9	OMIM:617591
HP:0000969	Edema	8425	LTBP4	OMIM:613177
HP:0000969	Edema	3115	HLA-DPB1	ORPHA:900
HP:0000969	Edema	5657	PRTN3	ORPHA:900
HP:0000969	Edema	3113	HLA-DPA1	ORPHA:900
HP:0000969	Edema	285362	SUMF1	OMIM:272200
HP:0000969	Edema	3321	IGSF3	OMIM:149700
HP:0000969	Edema	2290	FOXG1	ORPHA:261144
HP:0000969	Edema	6711	SPTBN1	OMIM:619475
HP:0000969	Edema	7045	TGFBI	OMIM:608470
HP:0000969	Edema	284252	KCTD1	ORPHA:2036
HP:0000969	Edema	284252	KCTD1	OMIM:181270
HP:0000969	Edema	5828	PEX2	OMIM:614866
HP:0000969	Edema	5457	POU4F1	ORPHA:314647
HP:0000969	Edema	23261	CAMTA1	ORPHA:314647
HP:0000969	Edema	23261	CAMTA1	OMIM:614756
HP:0000969	Edema	5830	PEX5	OMIM:214110
HP:0000969	Edema	5293	PIK3CD	ORPHA:221139
HP:0000969	Edema	90417	KNSTRN	ORPHA:221139
HP:0000969	Edema	22947	DUX4L1	ORPHA:269
HP:0000969	Edema	1789	DNMT3B	ORPHA:269
HP:0000969	Edema	2483	FRG1	ORPHA:269
HP:0000969	Edema	23347	SMCHD1	ORPHA:269
HP:0000969	Edema	100288687	DUX4	ORPHA:269
HP:0000969	Edema	71	ACTG1	ORPHA:2995
HP:0000969	Edema	60	ACTB	ORPHA:2995
HP:0000969	Edema	11133	KPTN	ORPHA:397612
HP:0000969	Edema	84168	ANTXR1	ORPHA:2067
HP:0000969	Edema	5723	PSPH	ORPHA:79350
HP:0000969	Edema	79158	GNPTAB	OMIM:252500
HP:0000969	Edema	57231	SNX14	ORPHA:397709
HP:0000969	Edema	55343	SLC35C1	ORPHA:99843
HP:0000969	Edema	10128	LRPPRC	OMIM:220111
HP:0000969	Edema	137814	NKX2-6	ORPHA:3384
HP:0000969	Edema	23129	PLXND1	ORPHA:3384
HP:0000969	Edema	4607	MYBPC3	OMIM:115197
HP:0000969	Edema	54914	FOCAD	OMIM:619991
HP:0000969	Edema	4519	MT-CYB	ORPHA:137675
HP:0000969	Edema	7276	TTR	OMIM:105210
HP:0000969	Edema	7841	MOGS	ORPHA:79330
HP:0000969	Edema	6440	SFTPC	ORPHA:70587
HP:0000969	Edema	21	ABCA3	ORPHA:70587
HP:0000969	Edema	6439	SFTPB	ORPHA:70587
HP:0000969	Edema	1369	CPN1	OMIM:212070
HP:0000969	Edema	11005	SPINK5	OMIM:256500
HP:0000969	Edema	5336	PLCG2	OMIM:614468
HP:0000969	Edema	3815	KIT	ORPHA:79455
HP:0000969	Edema	8291	DYSF	ORPHA:268
HP:0000970	Anhidrosis	242	ALOX12B	OMIM:242100
HP:0000970	Anhidrosis	59344	ALOXE3	OMIM:242100
HP:0000970	Anhidrosis	59344	ALOXE3	OMIM:606545
HP:0000970	Anhidrosis	5317	PKP1	OMIM:604536
HP:0000970	Anhidrosis	2074	ERCC6	OMIM:133540
HP:0000970	Anhidrosis	1896	EDA	OMIM:305100
HP:0000970	Anhidrosis	9071	CLDN10	OMIM:617671
HP:0000970	Anhidrosis	55768	NGLY1	OMIM:615273
HP:0000970	Anhidrosis	816	CAMK2B	OMIM:617799
HP:0000970	Anhidrosis	2517	FUCA1	OMIM:230000
HP:0000970	Anhidrosis	128178	EDARADD	OMIM:614940
HP:0000970	Anhidrosis	128178	EDARADD	OMIM:614941
HP:0000970	Anhidrosis	128178	EDARADD	OMIM:224900
HP:0000970	Anhidrosis	4803	NGF	ORPHA:64752
HP:0000970	Anhidrosis	4803	NGF	OMIM:608654
HP:0000970	Anhidrosis	4914	NTRK1	ORPHA:64752
HP:0000970	Anhidrosis	4914	NTRK1	ORPHA:642
HP:0000970	Anhidrosis	4914	NTRK1	OMIM:256800
HP:0000970	Anhidrosis	6261	RYR1	ORPHA:466650
HP:0000970	Anhidrosis	27235	COQ2	OMIM:146500
HP:0000970	Anhidrosis	84570	COL25A1	ORPHA:91411
HP:0000970	Anhidrosis	79776	ZFHX4	ORPHA:91411
HP:0000970	Anhidrosis	10913	EDAR	OMIM:224900
HP:0000970	Anhidrosis	5083	PAX9	OMIM:604625
HP:0000970	Anhidrosis	3861	KRT14	ORPHA:69087
HP:0000970	Anhidrosis	54463	RETREG1	OMIM:201300
HP:0000970	Anhidrosis	65125	WNK1	OMIM:201300
HP:0000970	Anhidrosis	6335	SCN9A	OMIM:201300
HP:0000970	Anhidrosis	6335	SCN9A	OMIM:243000
HP:0000970	Anhidrosis	547	KIF1A	OMIM:201300
HP:0000970	Anhidrosis	617	BCS1L	OMIM:262000
HP:0000970	Anhidrosis	9517	SPTLC2	OMIM:613640
HP:0000970	Anhidrosis	64065	PERP	OMIM:619209
HP:0000970	Anhidrosis	64065	PERP	ORPHA:659
HP:0000970	Anhidrosis	4792	NFKBIA	OMIM:612132
HP:0000970	Anhidrosis	51360	MBTPS2	ORPHA:659
HP:0000970	Anhidrosis	162514	TRPV3	ORPHA:659
HP:0000970	Anhidrosis	1161	ERCC8	OMIM:216400
HP:0000970	Anhidrosis	80216	ALPK1	OMIM:614979
HP:0000970	Anhidrosis	4001	LMNB1	ORPHA:99027
HP:0000971	Abnormal sweat gland morphology	4487	MSX1	OMIM:189500
HP:0000971	Abnormal sweat gland morphology	200879	LIPH	OMIM:604379
HP:0000971	Abnormal sweat gland morphology	54345	SOX18	OMIM:607823
HP:0000971	Abnormal sweat gland morphology	6144	RPL21	OMIM:615885
HP:0000971	Abnormal sweat gland morphology	112802	KRT71	OMIM:615896
HP:0000971	Abnormal sweat gland morphology	7700	ZNF141	OMIM:615226
HP:0000971	Abnormal sweat gland morphology	1001	CDH3	OMIM:225280
HP:0000971	Abnormal sweat gland morphology	121391	KRT74	OMIM:613981
HP:0000971	Abnormal sweat gland morphology	121391	KRT74	OMIM:614929
HP:0000971	Abnormal sweat gland morphology	79574	EPS8L3	OMIM:612841
HP:0000971	Abnormal sweat gland morphology	10161	LPAR6	OMIM:278150
HP:0000971	Abnormal sweat gland morphology	3229	HOXC13	OMIM:614931
HP:0000971	Abnormal sweat gland morphology	3891	KRT85	OMIM:602032
HP:0000971	Abnormal sweat gland morphology	126695	KDF1	OMIM:617337
HP:0000971	Abnormal sweat gland morphology	6926	TBX3	OMIM:181450
HP:0000971	Abnormal sweat gland morphology	3861	KRT14	ORPHA:69087
HP:0000971	Abnormal sweat gland morphology	8626	TP63	OMIM:129400
HP:0000971	Abnormal sweat gland morphology	4000	LMNA	ORPHA:1662
HP:0000971	Abnormal sweat gland morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000971	Abnormal sweat gland morphology	1896	EDA	OMIM:305100
HP:0000971	Abnormal sweat gland morphology	4792	NFKBIA	OMIM:612132
HP:0000971	Abnormal sweat gland morphology	4914	NTRK1	ORPHA:642
HP:0000971	Abnormal sweat gland morphology	8517	IKBKG	OMIM:300291
HP:0000972	Palmoplantar hyperkeratosis	5317	PKP1	OMIM:604536
HP:0000972	Palmoplantar hyperkeratosis	7051	TGM1	OMIM:242300
HP:0000972	Palmoplantar hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0000972	Palmoplantar hyperkeratosis	3858	KRT10	OMIM:607602
HP:0000972	Palmoplantar hyperkeratosis	3858	KRT10	OMIM:609165
HP:0000972	Palmoplantar hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0000972	Palmoplantar hyperkeratosis	55651	NHP2	OMIM:224230
HP:0000972	Palmoplantar hyperkeratosis	55505	NOP10	OMIM:224230
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	OMIM:170650
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	OMIM:245000
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	ORPHA:678
HP:0000972	Palmoplantar hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0000972	Palmoplantar hyperkeratosis	121391	KRT74	OMIM:194300
HP:0000972	Palmoplantar hyperkeratosis	3868	KRT16	OMIM:167200
HP:0000972	Palmoplantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	OMIM:620148
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	OMIM:113800
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	3248	HPGD	OMIM:259100
HP:0000972	Palmoplantar hyperkeratosis	3857	KRT9	OMIM:144200
HP:0000972	Palmoplantar hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0000972	Palmoplantar hyperkeratosis	10804	GJB6	ORPHA:189
HP:0000972	Palmoplantar hyperkeratosis	10804	GJB6	OMIM:129500
HP:0000972	Palmoplantar hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0000972	Palmoplantar hyperkeratosis	5728	PTEN	OMIM:158350
HP:0000972	Palmoplantar hyperkeratosis	57511	COG6	ORPHA:363523
HP:0000972	Palmoplantar hyperkeratosis	57511	COG6	OMIM:615328
HP:0000972	Palmoplantar hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0000972	Palmoplantar hyperkeratosis	10651	MTX2	OMIM:619127
HP:0000972	Palmoplantar hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0000972	Palmoplantar hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0000972	Palmoplantar hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0000972	Palmoplantar hyperkeratosis	64065	PERP	OMIM:619209
HP:0000972	Palmoplantar hyperkeratosis	64065	PERP	OMIM:619208
HP:0000972	Palmoplantar hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0000972	Palmoplantar hyperkeratosis	3872	KRT17	OMIM:167210
HP:0000972	Palmoplantar hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0000972	Palmoplantar hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0000972	Palmoplantar hyperkeratosis	7015	TERT	OMIM:613989
HP:0000972	Palmoplantar hyperkeratosis	5339	PLEC	OMIM:226670
HP:0000972	Palmoplantar hyperkeratosis	3889	KRT83	OMIM:617756
HP:0000972	Palmoplantar hyperkeratosis	9487	PIGL	OMIM:280000
HP:0000972	Palmoplantar hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0000972	Palmoplantar hyperkeratosis	8086	AAAS	OMIM:231550
HP:0000972	Palmoplantar hyperkeratosis	1828	DSG1	OMIM:148700
HP:0000972	Palmoplantar hyperkeratosis	9896	FIG4	OMIM:216340
HP:0000972	Palmoplantar hyperkeratosis	7286	TUFT1	OMIM:607655
HP:0000972	Palmoplantar hyperkeratosis	5290	PIK3CA	OMIM:615108
HP:0000972	Palmoplantar hyperkeratosis	207	AKT1	OMIM:615109
HP:0000972	Palmoplantar hyperkeratosis	667	DST	OMIM:615425
HP:0000972	Palmoplantar hyperkeratosis	9015	TAF1A	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	5663	PSEN1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	6389	SDHA	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7112	TMPO	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	9464	HAND2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	4625	MYH7	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	88	ACTN2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	10486	CAP2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	10060	ABCC9	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7168	TPM1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7414	VCL	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	70	ACTC1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	27063	ANKRD1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	8048	CSRP3	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	1410	CRYAB	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	4000	LMNA	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7139	TNNT2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	1829	DSG2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	3910	LAMA4	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	63976	PRDM16	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7273	TTN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	10587	TXNRD2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	9531	BAG3	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	5350	PLN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	91624	NEXN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	79717	PPCS	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	5664	PSEN2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	4624	MYH6	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	9529	BAG5	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	4607	MYBPC3	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	282996	RBM20	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7137	TNNI3	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	11155	LDB3	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	2274	FHL2	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	6901	TAFAZZIN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	22845	DOLK	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	5894	RAF1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	1756	DMD	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	57798	GATAD1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	7134	TNNC1	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	84665	MYPN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	1674	DES	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	6444	SGCD	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	6331	SCN5A	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	2218	FKTN	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	8557	TCAP	ORPHA:154
HP:0000972	Palmoplantar hyperkeratosis	79092	CARD14	OMIM:173200
HP:0000972	Palmoplantar hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0000972	Palmoplantar hyperkeratosis	79650	USB1	OMIM:604173
HP:0000972	Palmoplantar hyperkeratosis	79650	USB1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0000972	Palmoplantar hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	ORPHA:34217
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	OMIM:611528
HP:0000972	Palmoplantar hyperkeratosis	162	AP1B1	OMIM:242150
HP:0000972	Palmoplantar hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0000972	Palmoplantar hyperkeratosis	1824	DSC2	OMIM:610476
HP:0000972	Palmoplantar hyperkeratosis	8626	TP63	OMIM:106260
HP:0000972	Palmoplantar hyperkeratosis	8626	TP63	OMIM:129400
HP:0000972	Palmoplantar hyperkeratosis	3849	KRT2	ORPHA:455
HP:0000972	Palmoplantar hyperkeratosis	284654	RSPO1	ORPHA:85112
HP:0000972	Palmoplantar hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0000972	Palmoplantar hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	673	BRAF	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0000972	Palmoplantar hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3914	LAMB3	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0000972	Palmoplantar hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	6898	TAT	ORPHA:28378
HP:0000972	Palmoplantar hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6390	SDHB	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6392	SDHD	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6391	SDHC	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	205717	USF3	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	1475	CSTA	OMIM:607936
HP:0000972	Palmoplantar hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0000972	Palmoplantar hyperkeratosis	285848	PNPLA1	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	23328	SASH1	OMIM:618373
HP:0000972	Palmoplantar hyperkeratosis	1474	CST6	OMIM:618535
HP:0000972	Palmoplantar hyperkeratosis	412	STS	OMIM:308100
HP:0000972	Palmoplantar hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0000972	Palmoplantar hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0000972	Palmoplantar hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0000972	Palmoplantar hyperkeratosis	3854	KRT6B	OMIM:615728
HP:0000972	Palmoplantar hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0000972	Palmoplantar hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0000972	Palmoplantar hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0000972	Palmoplantar hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0000972	Palmoplantar hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0000972	Palmoplantar hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0000972	Palmoplantar hyperkeratosis	5184	PEPD	ORPHA:742
HP:0000972	Palmoplantar hyperkeratosis	25959	KANK2	OMIM:616099
HP:0000972	Palmoplantar hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0000972	Palmoplantar hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0000972	Palmoplantar hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	940	CD28	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0000972	Palmoplantar hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0000972	Palmoplantar hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0000972	Palmoplantar hyperkeratosis	79651	RHBDF2	ORPHA:2198
HP:0000972	Palmoplantar hyperkeratosis	23592	LEMD3	ORPHA:1306
HP:0000972	Palmoplantar hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0000972	Palmoplantar hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0000972	Palmoplantar hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	7012	TERC	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	5073	PARN	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	162514	TRPV3	OMIM:616400
HP:0000972	Palmoplantar hyperkeratosis	1832	DSP	ORPHA:65282
HP:0000972	Palmoplantar hyperkeratosis	2697	GJA1	ORPHA:317
HP:0000972	Palmoplantar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0000972	Palmoplantar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0000972	Palmoplantar hyperkeratosis	2531	KDSR	ORPHA:317
HP:0000972	Palmoplantar hyperkeratosis	127534	GJB4	ORPHA:317
HP:0000972	Palmoplantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0000972	Palmoplantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0000972	Palmoplantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0000972	Palmoplantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0000972	Palmoplantar hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0000972	Palmoplantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0000972	Palmoplantar hyperkeratosis	2706	GJB2	OMIM:124500
HP:0000972	Palmoplantar hyperkeratosis	2706	GJB2	ORPHA:494
HP:0000972	Palmoplantar hyperkeratosis	51371	POMP	OMIM:601952
HP:0000972	Palmoplantar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0000972	Palmoplantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0000972	Palmoplantar hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0000972	Palmoplantar hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0000972	Palmoplantar hyperkeratosis	831	CAST	OMIM:616295
HP:0000972	Palmoplantar hyperkeratosis	79719	AAGAB	OMIM:148600
HP:0000972	Palmoplantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0000972	Palmoplantar hyperkeratosis	56916	SMARCAD1	OMIM:181600
HP:0000972	Palmoplantar hyperkeratosis	57152	SLURP1	OMIM:248300
HP:0000973	Cutis laxa	10159	ATP6AP2	OMIM:301045
HP:0000973	Cutis laxa	11285	B4GALT7	ORPHA:75496
HP:0000973	Cutis laxa	11253	MAN1B1	ORPHA:397941
HP:0000973	Cutis laxa	11253	MAN1B1	OMIM:614202
HP:0000973	Cutis laxa	10526	IPO8	OMIM:619472
HP:0000973	Cutis laxa	5728	PTEN	OMIM:605309
HP:0000973	Cutis laxa	57539	WDR35	OMIM:613610
HP:0000973	Cutis laxa	2316	FLNA	OMIM:314400
HP:0000973	Cutis laxa	2200	FBN1	ORPHA:284979
HP:0000973	Cutis laxa	10653	SPINT2	OMIM:270420
HP:0000973	Cutis laxa	64131	XYLT1	OMIM:264800
HP:0000973	Cutis laxa	64132	XYLT2	OMIM:264800
HP:0000973	Cutis laxa	368	ABCC6	OMIM:264800
HP:0000973	Cutis laxa	2934	GSN	ORPHA:85448
HP:0000973	Cutis laxa	2934	GSN	OMIM:105120
HP:0000973	Cutis laxa	79644	SRD5A3	OMIM:612379
HP:0000973	Cutis laxa	55033	FKBP14	OMIM:614557
HP:0000973	Cutis laxa	16	AARS1	OMIM:619691
HP:0000973	Cutis laxa	537	ATP6AP1	OMIM:300972
HP:0000973	Cutis laxa	64919	BCL11B	OMIM:617237
HP:0000973	Cutis laxa	51594	NBAS	OMIM:614800
HP:0000973	Cutis laxa	79053	ALG8	ORPHA:79325
HP:0000973	Cutis laxa	9056	SLC7A7	OMIM:222700
HP:0000973	Cutis laxa	9469	CHST3	OMIM:245600
HP:0000973	Cutis laxa	26229	B3GAT3	OMIM:245600
HP:0000973	Cutis laxa	171023	ASXL1	OMIM:605039
HP:0000973	Cutis laxa	9742	IFT140	OMIM:266920
HP:0000973	Cutis laxa	112752	IFT43	OMIM:614099
HP:0000973	Cutis laxa	57728	WDR19	OMIM:614378
HP:0000973	Cutis laxa	25871	NEPRO	OMIM:618853
HP:0000973	Cutis laxa	1954	MEGF8	OMIM:614976
HP:0000973	Cutis laxa	2783	GNB2	OMIM:619503
HP:0000973	Cutis laxa	126792	B3GALT6	OMIM:615349
HP:0000973	Cutis laxa	7042	TGFB2	OMIM:614816
HP:0000973	Cutis laxa	6197	RPS6KA3	ORPHA:192
HP:0000973	Cutis laxa	8425	LTBP4	OMIM:613177
HP:0000973	Cutis laxa	9791	PTDSS1	ORPHA:2658
HP:0000973	Cutis laxa	29957	SLC25A24	OMIM:612289
HP:0000973	Cutis laxa	29957	SLC25A24	ORPHA:2963
HP:0000973	Cutis laxa	117581	TWIST2	OMIM:209885
HP:0000973	Cutis laxa	117581	TWIST2	OMIM:200110
HP:0000973	Cutis laxa	117581	TWIST2	ORPHA:1231
HP:0000973	Cutis laxa	117581	TWIST2	ORPHA:920
HP:0000973	Cutis laxa	117581	TWIST2	ORPHA:1807
HP:0000973	Cutis laxa	2677	GGCX	ORPHA:436274
HP:0000973	Cutis laxa	2677	GGCX	ORPHA:91135
HP:0000973	Cutis laxa	6804	STX1A	ORPHA:904
HP:0000973	Cutis laxa	7461	CLIP2	ORPHA:904
HP:0000973	Cutis laxa	84277	DNAJC30	ORPHA:904
HP:0000973	Cutis laxa	8468	FKBP6	ORPHA:904
HP:0000973	Cutis laxa	5982	RFC2	ORPHA:904
HP:0000973	Cutis laxa	2969	GTF2I	ORPHA:904
HP:0000973	Cutis laxa	3984	LIMK1	ORPHA:904
HP:0000973	Cutis laxa	9569	GTF2IRD1	ORPHA:904
HP:0000973	Cutis laxa	155382	VPS37D	ORPHA:904
HP:0000973	Cutis laxa	155368	METTL27	ORPHA:904
HP:0000973	Cutis laxa	114049	BUD23	ORPHA:904
HP:0000973	Cutis laxa	7458	EIF4H	ORPHA:904
HP:0000973	Cutis laxa	84163	GTF2IRD2	ORPHA:904
HP:0000973	Cutis laxa	9275	BCL7B	ORPHA:904
HP:0000973	Cutis laxa	26608	TBL2	ORPHA:904
HP:0000973	Cutis laxa	653361	NCF1	ORPHA:904
HP:0000973	Cutis laxa	135886	TMEM270	ORPHA:904
HP:0000973	Cutis laxa	51085	MLXIPL	ORPHA:904
HP:0000973	Cutis laxa	9031	BAZ1B	ORPHA:904
HP:0000973	Cutis laxa	2006	ELN	ORPHA:904
HP:0000973	Cutis laxa	2006	ELN	OMIM:123700
HP:0000973	Cutis laxa	2006	ELN	ORPHA:90348
HP:0000973	Cutis laxa	3008	H1-4	OMIM:617537
HP:0000973	Cutis laxa	81031	SLC2A10	ORPHA:3342
HP:0000973	Cutis laxa	538	ATP7A	OMIM:304150
HP:0000973	Cutis laxa	3248	HPGD	OMIM:259100
HP:0000973	Cutis laxa	2131	EXT1	ORPHA:502
HP:0000973	Cutis laxa	7227	TRPS1	ORPHA:502
HP:0000973	Cutis laxa	5308	PITX2	ORPHA:782
HP:0000973	Cutis laxa	2296	FOXC1	ORPHA:782
HP:0000973	Cutis laxa	6535	SLC6A8	ORPHA:52503
HP:0000973	Cutis laxa	54453	RIN2	ORPHA:217335
HP:0000973	Cutis laxa	54453	RIN2	OMIM:613075
HP:0000973	Cutis laxa	26281	FGF20	OMIM:615721
HP:0000973	Cutis laxa	54539	NDUFB11	OMIM:301021
HP:0000973	Cutis laxa	523	ATP6V1A	ORPHA:357074
HP:0000973	Cutis laxa	523	ATP6V1A	OMIM:617403
HP:0000973	Cutis laxa	529	ATP6V1E1	ORPHA:357074
HP:0000973	Cutis laxa	165	AEBP1	OMIM:618000
HP:0000973	Cutis laxa	165	AEBP1	ORPHA:536532
HP:0000973	Cutis laxa	8260	NAA10	OMIM:300855
HP:0000973	Cutis laxa	113189	CHST14	ORPHA:2953
HP:0000973	Cutis laxa	29940	DSE	ORPHA:2953
HP:0000973	Cutis laxa	84168	ANTXR1	OMIM:230740
HP:0000973	Cutis laxa	10516	FBLN5	ORPHA:90348
HP:0000973	Cutis laxa	10516	FBLN5	ORPHA:90349
HP:0000973	Cutis laxa	10516	FBLN5	OMIM:219100
HP:0000973	Cutis laxa	5832	ALDH18A1	ORPHA:90348
HP:0000973	Cutis laxa	4052	LTBP1	ORPHA:90349
HP:0000973	Cutis laxa	30008	EFEMP2	ORPHA:90349
HP:0000973	Cutis laxa	5831	PYCR1	OMIM:612940
HP:0000973	Cutis laxa	5831	PYCR1	ORPHA:2078
HP:0000973	Cutis laxa	92344	GORAB	ORPHA:2078
HP:0000973	Cutis laxa	5604	MAP2K1	ORPHA:1340
HP:0000973	Cutis laxa	5605	MAP2K2	ORPHA:1340
HP:0000973	Cutis laxa	3845	KRAS	ORPHA:1340
HP:0000973	Cutis laxa	673	BRAF	ORPHA:1340
HP:0000973	Cutis laxa	10225	CD96	ORPHA:1308
HP:0000973	Cutis laxa	79087	ALG12	ORPHA:79324
HP:0000973	Cutis laxa	64324	NSD1	ORPHA:3447
HP:0000973	Cutis laxa	8726	EED	ORPHA:3447
HP:0000973	Cutis laxa	23512	SUZ12	ORPHA:3447
HP:0000973	Cutis laxa	2146	EZH2	ORPHA:3447
HP:0000973	Cutis laxa	3265	HRAS	ORPHA:3071
HP:0000973	Cutis laxa	1281	COL3A1	ORPHA:286
HP:0000973	Cutis laxa	9509	ADAMTS2	OMIM:225410
HP:0000973	Cutis laxa	2879	GPX4	OMIM:250220
HP:0000973	Cutis laxa	84231	TRAF7	OMIM:618164
HP:0000973	Cutis laxa	54496	PRMT7	OMIM:617157
HP:0000973	Cutis laxa	55165	CEP55	OMIM:236500
HP:0000973	Cutis laxa	6913	TBX15	ORPHA:93333
HP:0000973	Cutis laxa	55593	OTUD5	OMIM:301056
HP:0000973	Cutis laxa	9896	FIG4	OMIM:216340
HP:0000973	Cutis laxa	9896	FIG4	ORPHA:3472
HP:0000973	Cutis laxa	56945	MRPS22	OMIM:611719
HP:0000973	Cutis laxa	79848	CSPP1	ORPHA:397715
HP:0000973	Cutis laxa	9786	KIAA0586	ORPHA:397715
HP:0000973	Cutis laxa	10682	EBP	OMIM:300960
HP:0000973	Cutis laxa	55697	VAC14	ORPHA:3472
HP:0000973	Cutis laxa	4716	NDUFB10	OMIM:619003
HP:0000973	Cutis laxa	285590	SH3PXD2B	OMIM:249420
HP:0000973	Cutis laxa	22884	WDR37	OMIM:618652
HP:0000973	Cutis laxa	2623	GATA1	OMIM:190685
HP:0000973	Cutis laxa	8621	CDK13	OMIM:617360
HP:0000973	Cutis laxa	388015	RTL1	ORPHA:254528
HP:0000973	Cutis laxa	388015	RTL1	ORPHA:96334
HP:0000973	Cutis laxa	8788	DLK1	ORPHA:254528
HP:0000973	Cutis laxa	8788	DLK1	ORPHA:96334
HP:0000973	Cutis laxa	55384	MEG3	ORPHA:254528
HP:0000973	Cutis laxa	55384	MEG3	ORPHA:96334
HP:0000973	Cutis laxa	51021	MRPS16	OMIM:610498
HP:0000973	Cutis laxa	124997	WDR81	OMIM:617967
HP:0000973	Cutis laxa	2683	B4GALT1	ORPHA:79332
HP:0000973	Cutis laxa	5189	PEX1	OMIM:214100
HP:0000973	Cutis laxa	4882	NPR2	OMIM:602875
HP:0000973	Cutis laxa	715	C1R	OMIM:130080
HP:0000973	Cutis laxa	2261	FGFR3	OMIM:616482
HP:0000973	Cutis laxa	22808	MRAS	OMIM:618499
HP:0000973	Cutis laxa	5351	PLOD1	OMIM:225400
HP:0000973	Cutis laxa	8216	LZTR1	OMIM:616564
HP:0000973	Cutis laxa	8216	LZTR1	OMIM:605275
HP:0000973	Cutis laxa	84627	ZNF469	OMIM:229200
HP:0000973	Cutis laxa	6016	RIT1	OMIM:615355
HP:0000973	Cutis laxa	2263	FGFR2	OMIM:123790
HP:0000973	Cutis laxa	23545	ATP6V0A2	OMIM:278250
HP:0000974	Hyperextensible skin	22827	PUF60	ORPHA:508498
HP:0000974	Hyperextensible skin	7528	YY1	ORPHA:506358
HP:0000974	Hyperextensible skin	8036	SHOC2	OMIM:607721
HP:0000974	Hyperextensible skin	8367	H4C5	OMIM:619950
HP:0000974	Hyperextensible skin	5351	PLOD1	OMIM:225400
HP:0000974	Hyperextensible skin	5351	PLOD1	ORPHA:1900
HP:0000974	Hyperextensible skin	8216	LZTR1	OMIM:616564
HP:0000974	Hyperextensible skin	8216	LZTR1	OMIM:605275
HP:0000974	Hyperextensible skin	7148	TNXB	ORPHA:230839
HP:0000974	Hyperextensible skin	7148	TNXB	OMIM:606408
HP:0000974	Hyperextensible skin	6016	RIT1	OMIM:615355
HP:0000974	Hyperextensible skin	2263	FGFR2	OMIM:149730
HP:0000974	Hyperextensible skin	538	ATP7A	OMIM:304150
HP:0000974	Hyperextensible skin	538	ATP7A	ORPHA:565
HP:0000974	Hyperextensible skin	538	ATP7A	ORPHA:198
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:608895
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:619764
HP:0000974	Hyperextensible skin	10516	FBLN5	ORPHA:90348
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:219100
HP:0000974	Hyperextensible skin	54453	RIN2	ORPHA:217335
HP:0000974	Hyperextensible skin	54453	RIN2	OMIM:613075
HP:0000974	Hyperextensible skin	1278	COL1A2	ORPHA:230851
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:617821
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:225320
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:619120
HP:0000974	Hyperextensible skin	1278	COL1A2	ORPHA:1899
HP:0000974	Hyperextensible skin	6651	SON	OMIM:617140
HP:0000974	Hyperextensible skin	117581	TWIST2	ORPHA:1231
HP:0000974	Hyperextensible skin	55033	FKBP14	OMIM:614557
HP:0000974	Hyperextensible skin	55033	FKBP14	ORPHA:300179
HP:0000974	Hyperextensible skin	1289	COL5A1	OMIM:619329
HP:0000974	Hyperextensible skin	1289	COL5A1	ORPHA:287
HP:0000974	Hyperextensible skin	1289	COL5A1	OMIM:130000
HP:0000974	Hyperextensible skin	1281	COL3A1	OMIM:130050
HP:0000974	Hyperextensible skin	716	C1S	ORPHA:75392
HP:0000974	Hyperextensible skin	716	C1S	OMIM:617174
HP:0000974	Hyperextensible skin	715	C1R	ORPHA:75392
HP:0000974	Hyperextensible skin	715	C1R	OMIM:130080
HP:0000974	Hyperextensible skin	165	AEBP1	OMIM:618000
HP:0000974	Hyperextensible skin	165	AEBP1	ORPHA:536532
HP:0000974	Hyperextensible skin	113189	CHST14	ORPHA:2953
HP:0000974	Hyperextensible skin	113189	CHST14	OMIM:601776
HP:0000974	Hyperextensible skin	29940	DSE	ORPHA:2953
HP:0000974	Hyperextensible skin	3376	IARS1	ORPHA:541423
HP:0000974	Hyperextensible skin	5604	MAP2K1	ORPHA:1340
HP:0000974	Hyperextensible skin	5605	MAP2K2	ORPHA:1340
HP:0000974	Hyperextensible skin	5605	MAP2K2	OMIM:615280
HP:0000974	Hyperextensible skin	3845	KRAS	ORPHA:1340
HP:0000974	Hyperextensible skin	673	BRAF	ORPHA:1340
HP:0000974	Hyperextensible skin	673	BRAF	ORPHA:500
HP:0000974	Hyperextensible skin	10000	AKT3	OMIM:615937
HP:0000974	Hyperextensible skin	9719	ADAMTSL2	ORPHA:1901
HP:0000974	Hyperextensible skin	9509	ADAMTS2	ORPHA:1901
HP:0000974	Hyperextensible skin	9509	ADAMTS2	OMIM:225410
HP:0000974	Hyperextensible skin	9056	SLC7A7	OMIM:222700
HP:0000974	Hyperextensible skin	1277	COL1A1	ORPHA:287
HP:0000974	Hyperextensible skin	1277	COL1A1	OMIM:130060
HP:0000974	Hyperextensible skin	1277	COL1A1	OMIM:619115
HP:0000974	Hyperextensible skin	1277	COL1A1	ORPHA:1899
HP:0000974	Hyperextensible skin	1290	COL5A2	ORPHA:287
HP:0000974	Hyperextensible skin	1290	COL5A2	OMIM:130010
HP:0000974	Hyperextensible skin	5159	PDGFRB	OMIM:616592
HP:0000974	Hyperextensible skin	64132	XYLT2	ORPHA:85194
HP:0000974	Hyperextensible skin	11285	B4GALT7	ORPHA:75496
HP:0000974	Hyperextensible skin	11285	B4GALT7	OMIM:130070
HP:0000974	Hyperextensible skin	2316	FLNA	ORPHA:75497
HP:0000974	Hyperextensible skin	2316	FLNA	ORPHA:555877
HP:0000974	Hyperextensible skin	10526	IPO8	OMIM:619472
HP:0000974	Hyperextensible skin	23233	EXOC6B	ORPHA:93359
HP:0000974	Hyperextensible skin	126792	B3GALT6	ORPHA:93359
HP:0000974	Hyperextensible skin	126792	B3GALT6	OMIM:271640
HP:0000974	Hyperextensible skin	126792	B3GALT6	ORPHA:536467
HP:0000974	Hyperextensible skin	126792	B3GALT6	OMIM:615349
HP:0000974	Hyperextensible skin	3643	INSR	ORPHA:508
HP:0000974	Hyperextensible skin	81031	SLC2A10	ORPHA:3342
HP:0000974	Hyperextensible skin	81031	SLC2A10	OMIM:208050
HP:0000974	Hyperextensible skin	1836	SLC26A2	ORPHA:628
HP:0000974	Hyperextensible skin	2006	ELN	OMIM:123700
HP:0000974	Hyperextensible skin	2006	ELN	ORPHA:90348
HP:0000974	Hyperextensible skin	5781	PTPN11	ORPHA:500
HP:0000974	Hyperextensible skin	5894	RAF1	ORPHA:500
HP:0000974	Hyperextensible skin	1303	COL12A1	ORPHA:536516
HP:0000974	Hyperextensible skin	79813	EHMT1	ORPHA:261652
HP:0000974	Hyperextensible skin	58508	KMT2C	ORPHA:261652
HP:0000974	Hyperextensible skin	79971	WLS	OMIM:619648
HP:0000974	Hyperextensible skin	5832	ALDH18A1	OMIM:219150
HP:0000974	Hyperextensible skin	5832	ALDH18A1	ORPHA:90348
HP:0000974	Hyperextensible skin	5832	ALDH18A1	ORPHA:35664
HP:0000974	Hyperextensible skin	11107	PRDM5	ORPHA:90354
HP:0000974	Hyperextensible skin	84627	ZNF469	ORPHA:90354
HP:0000974	Hyperextensible skin	6497	SKI	OMIM:182212
HP:0000974	Hyperextensible skin	6497	SKI	ORPHA:2462
HP:0000974	Hyperextensible skin	2629	GBA1	ORPHA:2072
HP:0000974	Hyperextensible skin	6603	SMARCD2	OMIM:617475
HP:0000974	Hyperextensible skin	92344	GORAB	ORPHA:2078
HP:0000974	Hyperextensible skin	5831	PYCR1	ORPHA:2078
HP:0000974	Hyperextensible skin	5076	PAX2	OMIM:120330
HP:0000974	Hyperextensible skin	9469	CHST3	OMIM:245600
HP:0000974	Hyperextensible skin	26229	B3GAT3	OMIM:245600
HP:0000974	Hyperextensible skin	91252	SLC39A13	ORPHA:157965
HP:0000974	Hyperextensible skin	91252	SLC39A13	OMIM:612350
HP:0000974	Hyperextensible skin	2245	FGD1	ORPHA:915
HP:0000974	Hyperextensible skin	84168	ANTXR1	ORPHA:2067
HP:0000974	Hyperextensible skin	2200	FBN1	ORPHA:2462
HP:0000974	Hyperextensible skin	5167	ENPP1	ORPHA:758
HP:0000974	Hyperextensible skin	368	ABCC6	ORPHA:758
HP:0000974	Hyperextensible skin	7042	TGFB2	OMIM:614816
HP:0000975	Hyperhidrosis	26191	PTPN22	ORPHA:397
HP:0000975	Hyperhidrosis	3106	HLA-B	ORPHA:397
HP:0000975	Hyperhidrosis	3106	HLA-B	ORPHA:3287
HP:0000975	Hyperhidrosis	3123	HLA-DRB1	ORPHA:397
HP:0000975	Hyperhidrosis	8974	P4HA2	ORPHA:397
HP:0000975	Hyperhidrosis	4352	MPL	ORPHA:71493
HP:0000975	Hyperhidrosis	7066	THPO	ORPHA:71493
HP:0000975	Hyperhidrosis	3717	JAK2	ORPHA:71493
HP:0000975	Hyperhidrosis	23769	FLRT1	ORPHA:320406
HP:0000975	Hyperhidrosis	64837	KLC2	ORPHA:320406
HP:0000975	Hyperhidrosis	64837	KLC2	OMIM:609541
HP:0000975	Hyperhidrosis	1291	COL6A1	OMIM:254090
HP:0000975	Hyperhidrosis	1292	COL6A2	OMIM:254090
HP:0000975	Hyperhidrosis	1293	COL6A3	OMIM:254090
HP:0000975	Hyperhidrosis	3094	HINT1	ORPHA:324442
HP:0000975	Hyperhidrosis	3094	HINT1	OMIM:137200
HP:0000975	Hyperhidrosis	23516	SLC39A14	OMIM:617013
HP:0000975	Hyperhidrosis	673	BRAF	OMIM:115150
HP:0000975	Hyperhidrosis	673	BRAF	OMIM:613706
HP:0000975	Hyperhidrosis	1736	DKC1	OMIM:305000
HP:0000975	Hyperhidrosis	1736	DKC1	ORPHA:1775
HP:0000975	Hyperhidrosis	6571	SLC18A2	ORPHA:352649
HP:0000975	Hyperhidrosis	6571	SLC18A2	OMIM:618049
HP:0000975	Hyperhidrosis	3190	HNRNPK	ORPHA:453504
HP:0000975	Hyperhidrosis	3190	HNRNPK	ORPHA:352665
HP:0000975	Hyperhidrosis	1308	COL17A1	ORPHA:79406
HP:0000975	Hyperhidrosis	3481	IGF2	ORPHA:231140
HP:0000975	Hyperhidrosis	283120	H19	ORPHA:231140
HP:0000975	Hyperhidrosis	3728	JUP	ORPHA:34217
HP:0000975	Hyperhidrosis	3074	HEXB	OMIM:268800
HP:0000975	Hyperhidrosis	3248	HPGD	ORPHA:217059
HP:0000975	Hyperhidrosis	3248	HPGD	ORPHA:2796
HP:0000975	Hyperhidrosis	3248	HPGD	OMIM:259100
HP:0000975	Hyperhidrosis	1644	DDC	OMIM:608643
HP:0000975	Hyperhidrosis	3736	KCNA1	ORPHA:37612
HP:0000975	Hyperhidrosis	3508	IGHMBP2	OMIM:604320
HP:0000975	Hyperhidrosis	1185	CLCN6	OMIM:619173
HP:0000975	Hyperhidrosis	9630	GNA14	ORPHA:1063
HP:0000975	Hyperhidrosis	8929	PHOX2B	ORPHA:2151
HP:0000975	Hyperhidrosis	8929	PHOX2B	OMIM:209880
HP:0000975	Hyperhidrosis	114548	NLRP3	ORPHA:47045
HP:0000975	Hyperhidrosis	6578	SLCO2A1	OMIM:614441
HP:0000975	Hyperhidrosis	6578	SLCO2A1	ORPHA:2796
HP:0000975	Hyperhidrosis	6578	SLCO2A1	OMIM:167100
HP:0000975	Hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0000975	Hyperhidrosis	83550	GPR101	ORPHA:963
HP:0000975	Hyperhidrosis	83550	GPR101	OMIM:300942
HP:0000975	Hyperhidrosis	9049	AIP	ORPHA:963
HP:0000975	Hyperhidrosis	9049	AIP	ORPHA:99725
HP:0000975	Hyperhidrosis	3852	KRT5	ORPHA:79400
HP:0000975	Hyperhidrosis	3861	KRT14	ORPHA:79400
HP:0000975	Hyperhidrosis	5621	PRNP	OMIM:600072
HP:0000975	Hyperhidrosis	1828	DSG1	OMIM:148700
HP:0000975	Hyperhidrosis	84133	ZNRF3	ORPHA:1501
HP:0000975	Hyperhidrosis	7157	TP53	ORPHA:1501
HP:0000975	Hyperhidrosis	5573	PRKAR1A	ORPHA:1501
HP:0000975	Hyperhidrosis	1499	CTNNB1	ORPHA:1501
HP:0000975	Hyperhidrosis	1029	CDKN2A	ORPHA:1501
HP:0000975	Hyperhidrosis	7015	TERT	ORPHA:1501
HP:0000975	Hyperhidrosis	7015	TERT	ORPHA:1775
HP:0000975	Hyperhidrosis	6898	TAT	ORPHA:28378
HP:0000975	Hyperhidrosis	8802	SUCLG1	OMIM:245400
HP:0000975	Hyperhidrosis	8802	SUCLG1	ORPHA:17
HP:0000975	Hyperhidrosis	3172	HNF4A	ORPHA:263455
HP:0000975	Hyperhidrosis	1508	CTSB	ORPHA:50943
HP:0000975	Hyperhidrosis	3977	LIFR	OMIM:601559
HP:0000975	Hyperhidrosis	3977	LIFR	ORPHA:3206
HP:0000975	Hyperhidrosis	64072	CDH23	ORPHA:91347
HP:0000975	Hyperhidrosis	388962	BOLA3	OMIM:614299
HP:0000975	Hyperhidrosis	11280	SCN11A	OMIM:615548
HP:0000975	Hyperhidrosis	200734	SPRED2	OMIM:619745
HP:0000975	Hyperhidrosis	9244	CRLF1	OMIM:272430
HP:0000975	Hyperhidrosis	9244	CRLF1	ORPHA:1545
HP:0000975	Hyperhidrosis	55768	NGLY1	OMIM:615273
HP:0000975	Hyperhidrosis	330	BIRC3	ORPHA:52417
HP:0000975	Hyperhidrosis	10892	MALT1	ORPHA:52417
HP:0000975	Hyperhidrosis	27086	FOXP1	ORPHA:52417
HP:0000975	Hyperhidrosis	3492	IGH	ORPHA:52417
HP:0000975	Hyperhidrosis	8915	BCL10	ORPHA:52417
HP:0000975	Hyperhidrosis	1001	CDH3	OMIM:225280
HP:0000975	Hyperhidrosis	5604	MAP2K1	OMIM:615279
HP:0000975	Hyperhidrosis	8710	SERPINB7	ORPHA:140966
HP:0000975	Hyperhidrosis	773	CACNA1A	ORPHA:2131
HP:0000975	Hyperhidrosis	6507	SLC1A3	ORPHA:2131
HP:0000975	Hyperhidrosis	477	ATP1A2	ORPHA:2131
HP:0000975	Hyperhidrosis	478	ATP1A3	ORPHA:2131
HP:0000975	Hyperhidrosis	4221	MEN1	ORPHA:97279
HP:0000975	Hyperhidrosis	4221	MEN1	ORPHA:99725
HP:0000975	Hyperhidrosis	7528	YY1	ORPHA:97279
HP:0000975	Hyperhidrosis	100134444	KCNJ18	ORPHA:79102
HP:0000975	Hyperhidrosis	2556	GABRA3	ORPHA:79102
HP:0000975	Hyperhidrosis	779	CACNA1S	ORPHA:79102
HP:0000975	Hyperhidrosis	6697	SPR	ORPHA:70594
HP:0000975	Hyperhidrosis	2517	FUCA1	ORPHA:349
HP:0000975	Hyperhidrosis	8517	IKBKG	ORPHA:464
HP:0000975	Hyperhidrosis	2887	GRB10	ORPHA:96182
HP:0000975	Hyperhidrosis	5605	MAP2K2	OMIM:615280
HP:0000975	Hyperhidrosis	57152	SLURP1	ORPHA:87503
HP:0000975	Hyperhidrosis	57152	SLURP1	OMIM:248300
HP:0000975	Hyperhidrosis	162514	TRPV3	OMIM:614594
HP:0000975	Hyperhidrosis	9373	PLAA	ORPHA:521426
HP:0000975	Hyperhidrosis	10161	LPAR6	OMIM:278150
HP:0000975	Hyperhidrosis	8450	CUL4B	ORPHA:85293
HP:0000975	Hyperhidrosis	55164	SHQ1	OMIM:619922
HP:0000975	Hyperhidrosis	3853	KRT6A	OMIM:615726
HP:0000975	Hyperhidrosis	595	CCND1	ORPHA:892
HP:0000975	Hyperhidrosis	5818	NECTIN1	OMIM:225060
HP:0000975	Hyperhidrosis	3868	KRT16	ORPHA:2199
HP:0000975	Hyperhidrosis	3857	KRT9	ORPHA:2199
HP:0000975	Hyperhidrosis	3848	KRT1	ORPHA:2199
HP:0000975	Hyperhidrosis	3593	IL12B	ORPHA:3287
HP:0000975	Hyperhidrosis	6945	MLX	ORPHA:3287
HP:0000975	Hyperhidrosis	3265	HRAS	ORPHA:2874
HP:0000975	Hyperhidrosis	23529	CLCF1	ORPHA:1545
HP:0000975	Hyperhidrosis	4914	NTRK1	ORPHA:642
HP:0000975	Hyperhidrosis	8803	SUCLA2	OMIM:612073
HP:0000975	Hyperhidrosis	667	DST	OMIM:614653
HP:0000975	Hyperhidrosis	80169	CTC1	ORPHA:1775
HP:0000975	Hyperhidrosis	26277	TINF2	ORPHA:1775
HP:0000975	Hyperhidrosis	55651	NHP2	ORPHA:1775
HP:0000975	Hyperhidrosis	79650	USB1	ORPHA:1775
HP:0000975	Hyperhidrosis	55135	WRAP53	ORPHA:1775
HP:0000975	Hyperhidrosis	51750	RTEL1	ORPHA:1775
HP:0000975	Hyperhidrosis	4869	NPM1	ORPHA:1775
HP:0000975	Hyperhidrosis	7012	TERC	ORPHA:1775
HP:0000975	Hyperhidrosis	55505	NOP10	ORPHA:1775
HP:0000975	Hyperhidrosis	5073	PARN	ORPHA:1775
HP:0000975	Hyperhidrosis	7298	TYMS	ORPHA:1775
HP:0000975	Hyperhidrosis	3145	HMBS	ORPHA:79276
HP:0000975	Hyperhidrosis	1188	CLCNKB	ORPHA:358
HP:0000975	Hyperhidrosis	6559	SLC12A3	ORPHA:358
HP:0000975	Hyperhidrosis	2263	FGFR2	OMIM:101200
HP:0000975	Hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0000975	Hyperhidrosis	8518	ELP1	OMIM:223900
HP:0000975	Hyperhidrosis	7428	VHL	ORPHA:29072
HP:0000975	Hyperhidrosis	7428	VHL	ORPHA:276621
HP:0000975	Hyperhidrosis	1743	DLST	ORPHA:29072
HP:0000975	Hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0000975	Hyperhidrosis	5979	RET	ORPHA:29072
HP:0000975	Hyperhidrosis	5979	RET	ORPHA:276621
HP:0000975	Hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0000975	Hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0000975	Hyperhidrosis	2271	FH	ORPHA:29072
HP:0000975	Hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0000975	Hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0000975	Hyperhidrosis	55654	TMEM127	ORPHA:29072
HP:0000975	Hyperhidrosis	4763	NF1	ORPHA:29072
HP:0000975	Hyperhidrosis	6391	SDHC	ORPHA:29072
HP:0000975	Hyperhidrosis	6392	SDHD	ORPHA:29072
HP:0000975	Hyperhidrosis	6392	SDHD	ORPHA:276621
HP:0000975	Hyperhidrosis	6390	SDHB	ORPHA:29072
HP:0000975	Hyperhidrosis	6390	SDHB	ORPHA:276621
HP:0000975	Hyperhidrosis	4149	MAX	ORPHA:29072
HP:0000975	Hyperhidrosis	54463	RETREG1	OMIM:613115
HP:0000975	Hyperhidrosis	54463	RETREG1	OMIM:201300
HP:0000975	Hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0000975	Hyperhidrosis	65125	WNK1	OMIM:201300
HP:0000975	Hyperhidrosis	6335	SCN9A	OMIM:201300
HP:0000975	Hyperhidrosis	547	KIF1A	OMIM:201300
HP:0000975	Hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0000975	Hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0000975	Hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0000975	Hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0000975	Hyperhidrosis	229	ALDOB	ORPHA:469
HP:0000975	Hyperhidrosis	3914	LAMB3	OMIM:226650
HP:0000975	Hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0000975	Hyperhidrosis	3872	KRT17	OMIM:167210
HP:0000975	Hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0000975	Hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0000975	Hyperhidrosis	64065	PERP	ORPHA:659
HP:0000975	Hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0000975	Hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0000975	Hyperhidrosis	1041	CDSN	OMIM:270300
HP:0000976	Eczematoid dermatitis	7535	ZAP70	OMIM:269840
HP:0000976	Eczematoid dermatitis	1536	CYBB	OMIM:306400
HP:0000976	Eczematoid dermatitis	6774	STAT3	OMIM:147060
HP:0000976	Eczematoid dermatitis	7922	SLC39A7	OMIM:619693
HP:0000976	Eczematoid dermatitis	4688	NCF2	OMIM:233710
HP:0000976	Eczematoid dermatitis	50943	FOXP3	ORPHA:37042
HP:0000976	Eczematoid dermatitis	653361	NCF1	OMIM:233700
HP:0000976	Eczematoid dermatitis	1535	CYBA	OMIM:233690
HP:0000976	Eczematoid dermatitis	686	BTD	ORPHA:79241
HP:0000976	Eczematoid dermatitis	3248	HPGD	OMIM:259100
HP:0000976	Eczematoid dermatitis	3248	HPGD	ORPHA:2796
HP:0000976	Eczematoid dermatitis	6578	SLCO2A1	ORPHA:2796
HP:0000976	Eczematoid dermatitis	2312	FLG	OMIM:146700
HP:0000977	Soft skin	3835	KIF22	OMIM:603546
HP:0000977	Soft skin	1896	EDA	OMIM:305100
HP:0000977	Soft skin	81031	SLC2A10	OMIM:208050
HP:0000977	Soft skin	5351	PLOD1	OMIM:225400
HP:0000977	Soft skin	54453	RIN2	OMIM:613075
HP:0000977	Soft skin	1290	COL5A2	OMIM:130010
HP:0000977	Soft skin	54496	PRMT7	OMIM:617157
HP:0000977	Soft skin	1278	COL1A2	OMIM:225320
HP:0000977	Soft skin	1278	COL1A2	OMIM:617821
HP:0000977	Soft skin	4088	SMAD3	OMIM:613795
HP:0000977	Soft skin	7048	TGFBR2	OMIM:610168
HP:0000977	Soft skin	9091	PIGQ	OMIM:618548
HP:0000977	Soft skin	538	ATP7A	OMIM:304150
HP:0000977	Soft skin	6678	SPARC	OMIM:616507
HP:0000977	Soft skin	5076	PAX2	OMIM:120330
HP:0000977	Soft skin	1303	COL12A1	ORPHA:536516
HP:0000977	Soft skin	4125	MAN2B1	ORPHA:309282
HP:0000977	Soft skin	7148	TNXB	OMIM:606408
HP:0000977	Soft skin	715	C1R	OMIM:130080
HP:0000977	Soft skin	4507	MTAP	OMIM:112250
HP:0000977	Soft skin	1289	COL5A1	OMIM:130000
HP:0000977	Soft skin	1289	COL5A1	OMIM:619329
HP:0000977	Soft skin	6885	MAP3K7	OMIM:157800
HP:0000977	Soft skin	25	ABL1	OMIM:617602
HP:0000977	Soft skin	30008	EFEMP2	OMIM:614437
HP:0000977	Soft skin	7046	TGFBR1	OMIM:609192
HP:0000977	Soft skin	126792	B3GALT6	OMIM:615349
HP:0000977	Soft skin	55033	FKBP14	OMIM:614557
HP:0000977	Soft skin	526	ATP6V1B2	ORPHA:3473
HP:0000977	Soft skin	3756	KCNH1	ORPHA:3473
HP:0000977	Soft skin	3782	KCNN3	ORPHA:3473
HP:0000977	Soft skin	51085	MLXIPL	OMIM:194050
HP:0000977	Soft skin	2006	ELN	OMIM:194050
HP:0000977	Soft skin	11107	PRDM5	ORPHA:90354
HP:0000977	Soft skin	84627	ZNF469	ORPHA:90354
HP:0000977	Soft skin	1277	COL1A1	ORPHA:287
HP:0000977	Soft skin	1277	COL1A1	OMIM:130060
HP:0000977	Soft skin	3636	INPPL1	OMIM:258480
HP:0000977	Soft skin	9509	ADAMTS2	OMIM:225410
HP:0000977	Soft skin	10367	MICU1	OMIM:615673
HP:0000977	Soft skin	6651	SON	ORPHA:500150
HP:0000977	Soft skin	4256	MGP	ORPHA:85202
HP:0000977	Soft skin	3376	IARS1	ORPHA:541423
HP:0000977	Soft skin	64131	XYLT1	ORPHA:370930
HP:0000979	Purpura	54809	SAMD9	OMIM:617053
HP:0000979	Purpura	83706	FERMT3	OMIM:612840
HP:0000979	Purpura	23474	ETHE1	OMIM:602473
HP:0000979	Purpura	23474	ETHE1	ORPHA:51188
HP:0000979	Purpura	2623	GATA1	OMIM:300367
HP:0000979	Purpura	2623	GATA1	OMIM:314050
HP:0000979	Purpura	2120	ETV6	OMIM:616216
HP:0000979	Purpura	5184	PEPD	OMIM:170100
HP:0000979	Purpura	843	CASP10	OMIM:603909
HP:0000979	Purpura	100506658	OCLN	OMIM:251290
HP:0000979	Purpura	2533	FYB1	OMIM:273900
HP:0000979	Purpura	348	APOE	ORPHA:158029
HP:0000979	Purpura	1186	CLCN7	OMIM:611490
HP:0000979	Purpura	3937	LCP2	OMIM:619374
HP:0000979	Purpura	11274	USP18	OMIM:617397
HP:0000979	Purpura	4668	NAGA	OMIM:609242
HP:0000979	Purpura	64858	DCLRE1B	OMIM:620133
HP:0000979	Purpura	5873	RAB27A	ORPHA:79477
HP:0000979	Purpura	4758	NEU1	ORPHA:93400
HP:0000979	Purpura	3674	ITGA2B	OMIM:273800
HP:0000979	Purpura	3674	ITGA2B	ORPHA:853
HP:0000979	Purpura	3674	ITGA2B	ORPHA:849
HP:0000979	Purpura	7454	WAS	OMIM:301000
HP:0000979	Purpura	7454	WAS	ORPHA:906
HP:0000979	Purpura	7450	VWF	OMIM:193400
HP:0000979	Purpura	720	C4A	OMIM:614380
HP:0000979	Purpura	975	CD81	OMIM:613496
HP:0000979	Purpura	975	CD81	ORPHA:1572
HP:0000979	Purpura	3717	JAK2	OMIM:254450
HP:0000979	Purpura	3717	JAK2	ORPHA:824
HP:0000979	Purpura	10019	SH2B3	OMIM:254450
HP:0000979	Purpura	811	CALR	OMIM:254450
HP:0000979	Purpura	811	CALR	ORPHA:824
HP:0000979	Purpura	4352	MPL	OMIM:254450
HP:0000979	Purpura	4352	MPL	ORPHA:824
HP:0000979	Purpura	7456	WIPF1	ORPHA:906
HP:0000979	Purpura	54790	TET2	ORPHA:824
HP:0000979	Purpura	1493	CTLA4	ORPHA:900
HP:0000979	Purpura	26191	PTPN22	ORPHA:900
HP:0000979	Purpura	3115	HLA-DPB1	ORPHA:900
HP:0000979	Purpura	5657	PRTN3	ORPHA:900
HP:0000979	Purpura	3113	HLA-DPA1	ORPHA:900
HP:0000979	Purpura	5627	PROS1	ORPHA:743
HP:0000979	Purpura	5627	PROS1	OMIM:614514
HP:0000979	Purpura	5627	PROS1	OMIM:612336
HP:0000979	Purpura	2629	GBA1	OMIM:608013
HP:0000979	Purpura	7036	TFR2	OMIM:604250
HP:0000979	Purpura	5624	PROC	ORPHA:745
HP:0000979	Purpura	5624	PROC	OMIM:612304
HP:0000979	Purpura	4598	MVK	ORPHA:343
HP:0000979	Purpura	5551	PRF1	ORPHA:540
HP:0000979	Purpura	8676	STX11	ORPHA:540
HP:0000979	Purpura	201294	UNC13D	ORPHA:540
HP:0000979	Purpura	6813	STXBP2	ORPHA:540
HP:0000979	Purpura	2157	F8	OMIM:306700
HP:0000979	Purpura	11277	TREX1	OMIM:225750
HP:0000979	Purpura	51816	ADA2	OMIM:615688
HP:0000979	Purpura	2811	GP1BA	ORPHA:853
HP:0000979	Purpura	2811	GP1BA	OMIM:231200
HP:0000979	Purpura	2812	GP1BB	ORPHA:853
HP:0000979	Purpura	2812	GP1BB	ORPHA:567
HP:0000979	Purpura	2812	GP1BB	OMIM:231200
HP:0000979	Purpura	3673	ITGA2	ORPHA:853
HP:0000979	Purpura	135228	CD109	ORPHA:853
HP:0000979	Purpura	3690	ITGB3	ORPHA:853
HP:0000979	Purpura	3690	ITGB3	ORPHA:849
HP:0000979	Purpura	2767	GNA11	ORPHA:1556
HP:0000979	Purpura	151188	ARL6IP6	ORPHA:1556
HP:0000979	Purpura	84196	USP48	ORPHA:96253
HP:0000979	Purpura	7157	TP53	ORPHA:96253
HP:0000979	Purpura	9101	USP8	ORPHA:96253
HP:0000979	Purpura	9101	USP8	OMIM:219090
HP:0000979	Purpura	64072	CDH23	ORPHA:96253
HP:0000979	Purpura	2908	NR3C1	ORPHA:96253
HP:0000979	Purpura	673	BRAF	ORPHA:96253
HP:0000979	Purpura	546	ATRX	ORPHA:96253
HP:0000979	Purpura	54	ACP5	OMIM:607944
HP:0000979	Purpura	9630	GNA14	ORPHA:1063
HP:0000979	Purpura	9103	FCGR2C	ORPHA:3002
HP:0000979	Purpura	1312	COMT	ORPHA:567
HP:0000979	Purpura	221037	JMJD1C	ORPHA:567
HP:0000979	Purpura	6239	RREB1	ORPHA:567
HP:0000979	Purpura	6899	TBX1	ORPHA:567
HP:0000979	Purpura	7290	HIRA	ORPHA:567
HP:0000979	Purpura	9632	SEC24C	ORPHA:567
HP:0000979	Purpura	7353	UFD1	ORPHA:567
HP:0000979	Purpura	421	ARVCF	ORPHA:567
HP:0000979	Purpura	84876	ORAI1	ORPHA:3204
HP:0000979	Purpura	6786	STIM1	ORPHA:3204
HP:0000979	Purpura	717	C2	OMIM:217000
HP:0000979	Purpura	6774	STAT3	ORPHA:520
HP:0000979	Purpura	5371	PML	ORPHA:520
HP:0000979	Purpura	5914	RARA	ORPHA:520
HP:0000979	Purpura	359948	IRF2BP2	ORPHA:520
HP:0000979	Purpura	359948	IRF2BP2	ORPHA:1572
HP:0000979	Purpura	81608	FIP1L1	ORPHA:520
HP:0000979	Purpura	4869	NPM1	ORPHA:520
HP:0000979	Purpura	5573	PRKAR1A	ORPHA:520
HP:0000979	Purpura	54880	BCOR	ORPHA:520
HP:0000979	Purpura	64859	NABP1	ORPHA:520
HP:0000979	Purpura	6777	STAT5B	ORPHA:520
HP:0000979	Purpura	4926	NUMA1	ORPHA:520
HP:0000979	Purpura	7704	ZBTB16	ORPHA:520
HP:0000979	Purpura	79718	TBL1XR1	ORPHA:520
HP:0000979	Purpura	4615	MYD88	ORPHA:33226
HP:0000979	Purpura	2815	GP9	OMIM:231200
HP:0000979	Purpura	114548	NLRP3	ORPHA:1451
HP:0000979	Purpura	23495	TNFRSF13B	ORPHA:1572
HP:0000979	Purpura	4790	NFKB1	ORPHA:1572
HP:0000979	Purpura	4791	NFKB2	ORPHA:1572
HP:0000979	Purpura	115650	TNFRSF13C	ORPHA:1572
HP:0000979	Purpura	1380	CR2	ORPHA:1572
HP:0000979	Purpura	8742	TNFSF12	ORPHA:1572
HP:0000979	Purpura	5580	PRKCD	ORPHA:1572
HP:0000979	Purpura	930	CD19	ORPHA:1572
HP:0000979	Purpura	29851	ICOS	ORPHA:1572
HP:0000979	Purpura	931	MS4A1	ORPHA:1572
HP:0000979	Purpura	9049	AIP	OMIM:219090
HP:0000979	Purpura	3207	HOXA11	OMIM:605432
HP:0000979	Purpura	3075	CFH	OMIM:235400
HP:0000979	Purpura	3078	CFHR1	OMIM:235400
HP:0000979	Purpura	10878	CFHR3	OMIM:235400
HP:0000979	Purpura	1281	COL3A1	OMIM:130050
HP:0000979	Purpura	2165	F13B	ORPHA:331
HP:0000979	Purpura	2165	F13B	OMIM:613235
HP:0000979	Purpura	2162	F13A1	ORPHA:331
HP:0000979	Purpura	2162	F13A1	OMIM:613225
HP:0000979	Purpura	3458	IFNG	ORPHA:88
HP:0000979	Purpura	7012	TERC	ORPHA:88
HP:0000979	Purpura	51119	SBDS	ORPHA:88
HP:0000979	Purpura	7015	TERT	ORPHA:88
HP:0000979	Purpura	2677	GGCX	OMIM:277450
HP:0000979	Purpura	51206	GP6	OMIM:614201
HP:0000979	Purpura	6915	TBXA2R	OMIM:614009
HP:0000979	Purpura	3257	HPS1	OMIM:203300
HP:0000979	Purpura	2147	F2	OMIM:613679
HP:0000979	Purpura	64805	P2RY12	OMIM:609821
HP:0000979	Purpura	1277	COL1A1	ORPHA:287
HP:0000979	Purpura	1289	COL5A1	ORPHA:287
HP:0000979	Purpura	1290	COL5A2	ORPHA:287
HP:0000979	Purpura	113189	CHST14	OMIM:601776
HP:0000979	Purpura	79803	HPS6	OMIM:614075
HP:0000979	Purpura	55340	GIMAP5	OMIM:619463
HP:0000979	Purpura	8328	GFI1B	OMIM:187900
HP:0000980	Pallor	3155	HMGCL	ORPHA:20
HP:0000980	Pallor	3155	HMGCL	OMIM:246450
HP:0000980	Pallor	6513	SLC2A1	ORPHA:64280
HP:0000980	Pallor	2562	GABRB3	ORPHA:64280
HP:0000980	Pallor	2554	GABRA1	ORPHA:64280
HP:0000980	Pallor	2554	GABRA1	ORPHA:33069
HP:0000980	Pallor	8912	CACNA1H	ORPHA:64280
HP:0000980	Pallor	8629	JRK	ORPHA:64280
HP:0000980	Pallor	2566	GABRG2	ORPHA:64280
HP:0000980	Pallor	2566	GABRG2	ORPHA:33069
HP:0000980	Pallor	8573	CASK	OMIM:300908
HP:0000980	Pallor	2539	G6PD	OMIM:300908
HP:0000980	Pallor	55240	STEAP3	OMIM:615234
HP:0000980	Pallor	55240	STEAP3	ORPHA:300298
HP:0000980	Pallor	84529	CDIN1	OMIM:615631
HP:0000980	Pallor	171023	ASXL1	ORPHA:98849
HP:0000980	Pallor	54790	TET2	ORPHA:98849
HP:0000980	Pallor	54790	TET2	ORPHA:824
HP:0000980	Pallor	54790	TET2	ORPHA:75564
HP:0000980	Pallor	3815	KIT	ORPHA:98849
HP:0000980	Pallor	6427	SRSF2	ORPHA:98849
HP:0000980	Pallor	55624	POMGNT1	OMIM:253280
HP:0000980	Pallor	811	CALR	ORPHA:824
HP:0000980	Pallor	811	CALR	OMIM:254450
HP:0000980	Pallor	4352	MPL	ORPHA:824
HP:0000980	Pallor	4352	MPL	OMIM:254450
HP:0000980	Pallor	3717	JAK2	ORPHA:824
HP:0000980	Pallor	3717	JAK2	OMIM:254450
HP:0000980	Pallor	57679	ALS2	OMIM:606353
HP:0000980	Pallor	9780	PIEZO1	OMIM:194380
HP:0000980	Pallor	113235	SLC46A1	ORPHA:90045
HP:0000980	Pallor	2038	EPB42	ORPHA:822
HP:0000980	Pallor	6521	SLC4A1	ORPHA:822
HP:0000980	Pallor	6521	SLC4A1	OMIM:611590
HP:0000980	Pallor	6710	SPTB	ORPHA:822
HP:0000980	Pallor	6708	SPTA1	ORPHA:822
HP:0000980	Pallor	286	ANK1	ORPHA:822
HP:0000980	Pallor	23451	SF3B1	ORPHA:75564
HP:0000980	Pallor	10312	TCIRG1	ORPHA:667
HP:0000980	Pallor	1186	CLCN7	ORPHA:667
HP:0000980	Pallor	29887	SNX10	ORPHA:667
HP:0000980	Pallor	8600	TNFSF11	ORPHA:667
HP:0000980	Pallor	3073	HEXA	OMIM:272800
HP:0000980	Pallor	9227	LRAT	OMIM:613341
HP:0000980	Pallor	60509	AGBL5	OMIM:617023
HP:0000980	Pallor	123016	TTC8	OMIM:613464
HP:0000980	Pallor	55215	FANCI	OMIM:609053
HP:0000980	Pallor	4221	MEN1	ORPHA:2965
HP:0000980	Pallor	64072	CDH23	ORPHA:2965
HP:0000980	Pallor	64072	CDH23	ORPHA:91347
HP:0000980	Pallor	9049	AIP	ORPHA:2965
HP:0000980	Pallor	3043	HBB	ORPHA:90039
HP:0000980	Pallor	3043	HBB	ORPHA:46532
HP:0000980	Pallor	3043	HBB	ORPHA:231214
HP:0000980	Pallor	3043	HBB	ORPHA:231222
HP:0000980	Pallor	3043	HBB	ORPHA:231226
HP:0000980	Pallor	10560	SLC19A2	ORPHA:49827
HP:0000980	Pallor	6833	ABCC8	ORPHA:276575
HP:0000980	Pallor	3767	KCNJ11	ORPHA:276580
HP:0000980	Pallor	8029	CUBN	ORPHA:35858
HP:0000980	Pallor	81693	AMN	ORPHA:35858
HP:0000980	Pallor	164656	TMPRSS6	ORPHA:209981
HP:0000980	Pallor	55154	MSTO1	OMIM:617675
HP:0000980	Pallor	5896	RAG1	ORPHA:331206
HP:0000980	Pallor	5897	RAG2	ORPHA:331206
HP:0000980	Pallor	7428	VHL	ORPHA:276621
HP:0000980	Pallor	7428	VHL	ORPHA:29072
HP:0000980	Pallor	7428	VHL	ORPHA:892
HP:0000980	Pallor	5979	RET	ORPHA:276621
HP:0000980	Pallor	5979	RET	ORPHA:29072
HP:0000980	Pallor	1788	DNMT3A	ORPHA:276621
HP:0000980	Pallor	2034	EPAS1	ORPHA:276621
HP:0000980	Pallor	6392	SDHD	ORPHA:276621
HP:0000980	Pallor	6392	SDHD	ORPHA:29072
HP:0000980	Pallor	6390	SDHB	ORPHA:276621
HP:0000980	Pallor	6390	SDHB	ORPHA:29072
HP:0000980	Pallor	8131	NPRL3	ORPHA:98820
HP:0000980	Pallor	10641	NPRL2	ORPHA:98820
HP:0000980	Pallor	9681	DEPDC5	ORPHA:98820
HP:0000980	Pallor	5805	PTS	ORPHA:13
HP:0000980	Pallor	5313	PKLR	OMIM:266200
HP:0000980	Pallor	212	ALAS2	ORPHA:75563
HP:0000980	Pallor	80324	PUS1	OMIM:600462
HP:0000980	Pallor	3172	HNF4A	ORPHA:263455
HP:0000980	Pallor	773	CACNA1A	ORPHA:71518
HP:0000980	Pallor	773	CACNA1A	ORPHA:2131
HP:0000980	Pallor	3039	HBA1	ORPHA:163596
HP:0000980	Pallor	3040	HBA2	ORPHA:163596
HP:0000980	Pallor	10661	KLF1	ORPHA:46532
HP:0000980	Pallor	3047	HBG1	ORPHA:46532
HP:0000980	Pallor	3048	HBG2	ORPHA:46532
HP:0000980	Pallor	84839	RAX2	OMIM:610381
HP:0000980	Pallor	10019	SH2B3	OMIM:254450
HP:0000980	Pallor	4519	MT-CYB	ORPHA:137675
HP:0000980	Pallor	1743	DLST	ORPHA:29072
HP:0000980	Pallor	4191	MDH2	ORPHA:29072
HP:0000980	Pallor	6389	SDHA	ORPHA:29072
HP:0000980	Pallor	23095	KIF1B	ORPHA:29072
HP:0000980	Pallor	2271	FH	ORPHA:29072
HP:0000980	Pallor	2271	FH	OMIM:606812
HP:0000980	Pallor	8402	SLC25A11	ORPHA:29072
HP:0000980	Pallor	54949	SDHAF2	ORPHA:29072
HP:0000980	Pallor	55654	TMEM127	ORPHA:29072
HP:0000980	Pallor	4763	NF1	ORPHA:29072
HP:0000980	Pallor	6391	SDHC	ORPHA:29072
HP:0000980	Pallor	4149	MAX	ORPHA:29072
HP:0000980	Pallor	6507	SLC1A3	ORPHA:2131
HP:0000980	Pallor	477	ATP1A2	ORPHA:2131
HP:0000980	Pallor	478	ATP1A3	ORPHA:2131
HP:0000980	Pallor	6335	SCN9A	ORPHA:33069
HP:0000980	Pallor	6326	SCN2A	ORPHA:33069
HP:0000980	Pallor	6323	SCN1A	ORPHA:33069
HP:0000980	Pallor	6324	SCN1B	ORPHA:33069
HP:0000980	Pallor	57526	PCDH19	ORPHA:33069
HP:0000980	Pallor	4976	OPA1	OMIM:165500
HP:0000980	Pallor	2624	GATA2	ORPHA:3226
HP:0000980	Pallor	2203	FBP1	ORPHA:348
HP:0000980	Pallor	1303	COL12A1	ORPHA:536516
HP:0000980	Pallor	374879	ZNF699	OMIM:619488
HP:0000980	Pallor	2035	EPB41	OMIM:611804
HP:0000980	Pallor	38	ACAT1	ORPHA:134
HP:0000980	Pallor	595	CCND1	ORPHA:892
HP:0000980	Pallor	9493	KIF23	ORPHA:98870
HP:0000980	Pallor	29127	RACGAP1	ORPHA:98870
HP:0000980	Pallor	3785	KCNQ2	ORPHA:439218
HP:0000980	Pallor	57728	WDR19	OMIM:616307
HP:0000980	Pallor	27249	MMADHC	ORPHA:79283
HP:0000980	Pallor	84233	TMEM126A	OMIM:612989
HP:0000980	Pallor	1719	DHFR	OMIM:613839
HP:0000980	Pallor	6223	RPS19	OMIM:105650
HP:0000980	Pallor	6223	RPS19	ORPHA:124
HP:0000980	Pallor	6135	RPL11	ORPHA:124
HP:0000980	Pallor	6138	RPL15	ORPHA:124
HP:0000980	Pallor	6229	RPS24	ORPHA:124
HP:0000980	Pallor	6125	RPL5	ORPHA:124
HP:0000980	Pallor	6204	RPS10	ORPHA:124
HP:0000980	Pallor	6224	RPS20	ORPHA:124
HP:0000980	Pallor	6165	RPL35A	ORPHA:124
HP:0000980	Pallor	2623	GATA1	ORPHA:124
HP:0000980	Pallor	6232	RPS27	ORPHA:124
HP:0000980	Pallor	6231	RPS26	ORPHA:124
HP:0000980	Pallor	11224	RPL35	ORPHA:124
HP:0000980	Pallor	6160	RPL31	ORPHA:124
HP:0000980	Pallor	6218	RPS17	ORPHA:124
HP:0000980	Pallor	6201	RPS7	ORPHA:124
HP:0000980	Pallor	6155	RPL27	ORPHA:124
HP:0000980	Pallor	6154	RPL26	ORPHA:124
HP:0000980	Pallor	6210	RPS15A	ORPHA:124
HP:0000980	Pallor	90121	TSR2	ORPHA:124
HP:0000980	Pallor	6141	RPL18	ORPHA:124
HP:0000980	Pallor	6235	RPS29	ORPHA:124
HP:0000980	Pallor	6234	RPS28	ORPHA:124
HP:0000980	Pallor	51816	ADA2	ORPHA:124
HP:0000980	Pallor	4615	MYD88	ORPHA:33226
HP:0000980	Pallor	6927	HNF1A	ORPHA:324575
HP:0000980	Pallor	51067	YARS2	OMIM:613561
HP:0000980	Pallor	7351	UCP2	ORPHA:276556
HP:0000980	Pallor	8517	IKBKG	OMIM:308300
HP:0000980	Pallor	51095	TRNT1	OMIM:616959
HP:0000980	Pallor	657	BMPR1A	ORPHA:329971
HP:0000980	Pallor	4089	SMAD4	ORPHA:329971
HP:0000980	Pallor	2022	ENG	ORPHA:329971
HP:0000980	Pallor	2177	FANCD2	OMIM:227646
HP:0000980	Pallor	2176	FANCC	OMIM:227645
HP:0000980	Pallor	2178	FANCE	OMIM:600901
HP:0000980	Pallor	2175	FANCA	OMIM:227650
HP:0007417	Discoid lupus rash	23592	LEMD3	ORPHA:166119
HP:0007417	Discoid lupus rash	4688	NCF2	OMIM:233710
HP:0007417	Discoid lupus rash	1536	CYBB	OMIM:306400
HP:0007417	Discoid lupus rash	653361	NCF1	OMIM:233700
HP:0007417	Discoid lupus rash	1535	CYBA	OMIM:233690
HP:0007417	Discoid lupus rash	6775	STAT4	ORPHA:93552
HP:0007417	Discoid lupus rash	6696	SPP1	ORPHA:93552
HP:0007417	Discoid lupus rash	3654	IRAK1	ORPHA:93552
HP:0000982	Palmoplantar keratoderma	3858	KRT10	ORPHA:312
HP:0000982	Palmoplantar keratoderma	3848	KRT1	ORPHA:312
HP:0000982	Palmoplantar keratoderma	3848	KRT1	OMIM:620148
HP:0000982	Palmoplantar keratoderma	3848	KRT1	ORPHA:50942
HP:0000982	Palmoplantar keratoderma	3848	KRT1	OMIM:146590
HP:0000982	Palmoplantar keratoderma	3848	KRT1	OMIM:607654
HP:0000982	Palmoplantar keratoderma	9015	TAF1A	ORPHA:154
HP:0000982	Palmoplantar keratoderma	5663	PSEN1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	6389	SDHA	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7112	TMPO	ORPHA:154
HP:0000982	Palmoplantar keratoderma	9464	HAND2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	4625	MYH7	ORPHA:154
HP:0000982	Palmoplantar keratoderma	88	ACTN2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	10486	CAP2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	10060	ABCC9	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7168	TPM1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7414	VCL	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1832	DSP	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1832	DSP	ORPHA:50942
HP:0000982	Palmoplantar keratoderma	1832	DSP	OMIM:615821
HP:0000982	Palmoplantar keratoderma	1832	DSP	OMIM:612908
HP:0000982	Palmoplantar keratoderma	1832	DSP	OMIM:605676
HP:0000982	Palmoplantar keratoderma	70	ACTC1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	27063	ANKRD1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	8048	CSRP3	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1410	CRYAB	ORPHA:154
HP:0000982	Palmoplantar keratoderma	4000	LMNA	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7139	TNNT2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1829	DSG2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	3910	LAMA4	ORPHA:154
HP:0000982	Palmoplantar keratoderma	63976	PRDM16	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7273	TTN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	10587	TXNRD2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	9531	BAG3	ORPHA:154
HP:0000982	Palmoplantar keratoderma	5350	PLN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	91624	NEXN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	79717	PPCS	ORPHA:154
HP:0000982	Palmoplantar keratoderma	5664	PSEN2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	4624	MYH6	ORPHA:154
HP:0000982	Palmoplantar keratoderma	9529	BAG5	ORPHA:154
HP:0000982	Palmoplantar keratoderma	4607	MYBPC3	ORPHA:154
HP:0000982	Palmoplantar keratoderma	282996	RBM20	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7137	TNNI3	ORPHA:154
HP:0000982	Palmoplantar keratoderma	11155	LDB3	ORPHA:154
HP:0000982	Palmoplantar keratoderma	2274	FHL2	ORPHA:154
HP:0000982	Palmoplantar keratoderma	6901	TAFAZZIN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	22845	DOLK	ORPHA:154
HP:0000982	Palmoplantar keratoderma	5894	RAF1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1756	DMD	ORPHA:154
HP:0000982	Palmoplantar keratoderma	57798	GATAD1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	7134	TNNC1	ORPHA:154
HP:0000982	Palmoplantar keratoderma	84665	MYPN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	1674	DES	ORPHA:154
HP:0000982	Palmoplantar keratoderma	6444	SGCD	ORPHA:154
HP:0000982	Palmoplantar keratoderma	6331	SCN5A	ORPHA:154
HP:0000982	Palmoplantar keratoderma	2218	FKTN	ORPHA:154
HP:0000982	Palmoplantar keratoderma	8557	TCAP	ORPHA:154
HP:0000982	Palmoplantar keratoderma	79092	CARD14	OMIM:173200
HP:0000982	Palmoplantar keratoderma	79092	CARD14	ORPHA:2897
HP:0000982	Palmoplantar keratoderma	56916	SMARCAD1	OMIM:129200
HP:0000982	Palmoplantar keratoderma	56916	SMARCAD1	ORPHA:384
HP:0000982	Palmoplantar keratoderma	2706	GJB2	ORPHA:2698
HP:0000982	Palmoplantar keratoderma	2706	GJB2	OMIM:602540
HP:0000982	Palmoplantar keratoderma	2706	GJB2	ORPHA:2202
HP:0000982	Palmoplantar keratoderma	2706	GJB2	OMIM:149200
HP:0000982	Palmoplantar keratoderma	2706	GJB2	ORPHA:477
HP:0000982	Palmoplantar keratoderma	79650	USB1	OMIM:604173
HP:0000982	Palmoplantar keratoderma	79650	USB1	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	1308	COL17A1	ORPHA:79406
HP:0000982	Palmoplantar keratoderma	1308	COL17A1	ORPHA:79402
HP:0000982	Palmoplantar keratoderma	51360	MBTPS2	OMIM:308800
HP:0000982	Palmoplantar keratoderma	51360	MBTPS2	OMIM:300918
HP:0000982	Palmoplantar keratoderma	51360	MBTPS2	ORPHA:659
HP:0000982	Palmoplantar keratoderma	4312	MMP1	ORPHA:79408
HP:0000982	Palmoplantar keratoderma	1294	COL7A1	ORPHA:79408
HP:0000982	Palmoplantar keratoderma	1294	COL7A1	ORPHA:79409
HP:0000982	Palmoplantar keratoderma	1294	COL7A1	ORPHA:79410
HP:0000982	Palmoplantar keratoderma	1294	COL7A1	ORPHA:79411
HP:0000982	Palmoplantar keratoderma	3728	JUP	OMIM:601214
HP:0000982	Palmoplantar keratoderma	3728	JUP	ORPHA:34217
HP:0000982	Palmoplantar keratoderma	3728	JUP	OMIM:611528
HP:0000982	Palmoplantar keratoderma	162	AP1B1	OMIM:242150
HP:0000982	Palmoplantar keratoderma	5167	ENPP1	OMIM:615522
HP:0000982	Palmoplantar keratoderma	4574	MT-TS1	ORPHA:2202
HP:0000982	Palmoplantar keratoderma	1824	DSC2	OMIM:610476
HP:0000982	Palmoplantar keratoderma	64065	PERP	OMIM:619208
HP:0000982	Palmoplantar keratoderma	64065	PERP	ORPHA:659
HP:0000982	Palmoplantar keratoderma	162514	TRPV3	ORPHA:659
HP:0000982	Palmoplantar keratoderma	162514	TRPV3	OMIM:614594
HP:0000982	Palmoplantar keratoderma	8626	TP63	OMIM:106260
HP:0000982	Palmoplantar keratoderma	8626	TP63	OMIM:129400
HP:0000982	Palmoplantar keratoderma	3849	KRT2	ORPHA:455
HP:0000982	Palmoplantar keratoderma	284654	RSPO1	ORPHA:85112
HP:0000982	Palmoplantar keratoderma	284654	RSPO1	OMIM:610644
HP:0000982	Palmoplantar keratoderma	5604	MAP2K1	ORPHA:1340
HP:0000982	Palmoplantar keratoderma	5605	MAP2K2	ORPHA:1340
HP:0000982	Palmoplantar keratoderma	3845	KRAS	ORPHA:1340
HP:0000982	Palmoplantar keratoderma	673	BRAF	ORPHA:1340
HP:0000982	Palmoplantar keratoderma	3248	HPGD	ORPHA:2796
HP:0000982	Palmoplantar keratoderma	6578	SLCO2A1	ORPHA:2796
HP:0000982	Palmoplantar keratoderma	5339	PLEC	ORPHA:79401
HP:0000982	Palmoplantar keratoderma	3909	LAMA3	ORPHA:79402
HP:0000982	Palmoplantar keratoderma	3918	LAMC2	ORPHA:79402
HP:0000982	Palmoplantar keratoderma	3691	ITGB4	ORPHA:79402
HP:0000982	Palmoplantar keratoderma	3914	LAMB3	ORPHA:79402
HP:0000982	Palmoplantar keratoderma	1828	DSG1	OMIM:148700
HP:0000982	Palmoplantar keratoderma	1828	DSG1	ORPHA:50942
HP:0000982	Palmoplantar keratoderma	1828	DSG1	OMIM:615508
HP:0000982	Palmoplantar keratoderma	2697	GJA1	ORPHA:2710
HP:0000982	Palmoplantar keratoderma	2697	GJA1	OMIM:104100
HP:0000982	Palmoplantar keratoderma	2697	GJA1	OMIM:617525
HP:0000982	Palmoplantar keratoderma	2697	GJA1	ORPHA:1010
HP:0000982	Palmoplantar keratoderma	26154	ABCA12	OMIM:601277
HP:0000982	Palmoplantar keratoderma	26154	ABCA12	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	6898	TAT	ORPHA:28378
HP:0000982	Palmoplantar keratoderma	10483	SEC23B	ORPHA:201
HP:0000982	Palmoplantar keratoderma	5728	PTEN	ORPHA:201
HP:0000982	Palmoplantar keratoderma	6390	SDHB	ORPHA:201
HP:0000982	Palmoplantar keratoderma	6392	SDHD	ORPHA:201
HP:0000982	Palmoplantar keratoderma	6391	SDHC	ORPHA:201
HP:0000982	Palmoplantar keratoderma	207	AKT1	ORPHA:201
HP:0000982	Palmoplantar keratoderma	205717	USF3	ORPHA:201
HP:0000982	Palmoplantar keratoderma	5290	PIK3CA	ORPHA:201
HP:0000982	Palmoplantar keratoderma	100144748	KLLN	ORPHA:201
HP:0000982	Palmoplantar keratoderma	1475	CSTA	OMIM:607936
HP:0000982	Palmoplantar keratoderma	80326	WNT10A	ORPHA:50944
HP:0000982	Palmoplantar keratoderma	80326	WNT10A	OMIM:224750
HP:0000982	Palmoplantar keratoderma	285848	PNPLA1	OMIM:615024
HP:0000982	Palmoplantar keratoderma	285848	PNPLA1	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	23328	SASH1	OMIM:618373
HP:0000982	Palmoplantar keratoderma	3868	KRT16	OMIM:613000
HP:0000982	Palmoplantar keratoderma	3868	KRT16	ORPHA:2309
HP:0000982	Palmoplantar keratoderma	1474	CST6	OMIM:618535
HP:0000982	Palmoplantar keratoderma	412	STS	OMIM:308100
HP:0000982	Palmoplantar keratoderma	3872	KRT17	ORPHA:2309
HP:0000982	Palmoplantar keratoderma	3853	KRT6A	ORPHA:2309
HP:0000982	Palmoplantar keratoderma	3853	KRT6A	OMIM:615726
HP:0000982	Palmoplantar keratoderma	3854	KRT6B	ORPHA:2309
HP:0000982	Palmoplantar keratoderma	3854	KRT6B	OMIM:615728
HP:0000982	Palmoplantar keratoderma	54795	TRPM4	ORPHA:316
HP:0000982	Palmoplantar keratoderma	4014	LORICRIN	ORPHA:316
HP:0000982	Palmoplantar keratoderma	4014	LORICRIN	ORPHA:79395
HP:0000982	Palmoplantar keratoderma	3889	KRT83	ORPHA:316
HP:0000982	Palmoplantar keratoderma	2531	KDSR	ORPHA:316
HP:0000982	Palmoplantar keratoderma	1075	CTSC	ORPHA:678
HP:0000982	Palmoplantar keratoderma	242	ALOX12B	OMIM:242100
HP:0000982	Palmoplantar keratoderma	242	ALOX12B	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	59344	ALOXE3	OMIM:242100
HP:0000982	Palmoplantar keratoderma	59344	ALOXE3	OMIM:606545
HP:0000982	Palmoplantar keratoderma	59344	ALOXE3	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	126410	CYP4F22	OMIM:604777
HP:0000982	Palmoplantar keratoderma	10804	GJB6	ORPHA:477
HP:0000982	Palmoplantar keratoderma	10804	GJB6	ORPHA:189
HP:0000982	Palmoplantar keratoderma	348938	NIPAL4	OMIM:612281
HP:0000982	Palmoplantar keratoderma	348938	NIPAL4	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	8710	SERPINB7	ORPHA:140966
HP:0000982	Palmoplantar keratoderma	29926	GMPPA	ORPHA:869
HP:0000982	Palmoplantar keratoderma	60684	TRAPPC11	ORPHA:869
HP:0000982	Palmoplantar keratoderma	8086	AAAS	ORPHA:869
HP:0000982	Palmoplantar keratoderma	5184	PEPD	ORPHA:742
HP:0000982	Palmoplantar keratoderma	7373	COL14A1	ORPHA:79501
HP:0000982	Palmoplantar keratoderma	79719	AAGAB	ORPHA:79501
HP:0000982	Palmoplantar keratoderma	51371	POMP	ORPHA:281201
HP:0000982	Palmoplantar keratoderma	3861	KRT14	OMIM:161000
HP:0000982	Palmoplantar keratoderma	3861	KRT14	ORPHA:79396
HP:0000982	Palmoplantar keratoderma	57152	SLURP1	ORPHA:87503
HP:0000982	Palmoplantar keratoderma	25959	KANK2	OMIM:616099
HP:0000982	Palmoplantar keratoderma	2263	FGFR2	ORPHA:1555
HP:0000982	Palmoplantar keratoderma	488	ATP2A2	ORPHA:218
HP:0000982	Palmoplantar keratoderma	57192	MCOLN1	ORPHA:578
HP:0000982	Palmoplantar keratoderma	1493	CTLA4	ORPHA:3162
HP:0000982	Palmoplantar keratoderma	940	CD28	ORPHA:3162
HP:0000982	Palmoplantar keratoderma	7133	TNFRSF1B	ORPHA:3162
HP:0000982	Palmoplantar keratoderma	9342	SNAP29	OMIM:609528
HP:0000982	Palmoplantar keratoderma	5317	PKP1	ORPHA:158668
HP:0000982	Palmoplantar keratoderma	55612	FERMT1	ORPHA:2908
HP:0000982	Palmoplantar keratoderma	79977	GRHL2	OMIM:616029
HP:0000982	Palmoplantar keratoderma	286887	KRT6C	OMIM:615735
HP:0000982	Palmoplantar keratoderma	79651	RHBDF2	ORPHA:2198
HP:0000982	Palmoplantar keratoderma	23592	LEMD3	ORPHA:1306
HP:0000982	Palmoplantar keratoderma	79644	SRD5A3	ORPHA:324737
HP:0000982	Palmoplantar keratoderma	1080	CFTR	ORPHA:498359
HP:0000982	Palmoplantar keratoderma	22861	NLRP1	OMIM:615225
HP:0000982	Palmoplantar keratoderma	80169	CTC1	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	26277	TINF2	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	55651	NHP2	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	55135	WRAP53	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	51750	RTEL1	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	4869	NPM1	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	7012	TERC	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	55505	NOP10	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	5073	PARN	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	7015	TERT	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	1736	DKC1	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	7298	TYMS	ORPHA:1775
HP:0000982	Palmoplantar keratoderma	127534	GJB4	OMIM:617524
HP:0000982	Palmoplantar keratoderma	204219	CERS3	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	7051	TGM1	ORPHA:79394
HP:0000982	Palmoplantar keratoderma	3852	KRT5	ORPHA:79396
HP:0005406	Recurrent bacterial skin infections	3909	LAMA3	ORPHA:79404
HP:0005406	Recurrent bacterial skin infections	3918	LAMC2	ORPHA:79404
HP:0005406	Recurrent bacterial skin infections	3914	LAMB3	ORPHA:79404
HP:0005406	Recurrent bacterial skin infections	3587	IL10RA	OMIM:613148
HP:0005406	Recurrent bacterial skin infections	695	BTK	OMIM:300755
HP:0005406	Recurrent bacterial skin infections	695	BTK	OMIM:307200
HP:0005406	Recurrent bacterial skin infections	1130	LYST	ORPHA:167
HP:0005406	Recurrent bacterial skin infections	1130	LYST	OMIM:214500
HP:0005406	Recurrent bacterial skin infections	3561	IL2RG	ORPHA:276
HP:0005406	Recurrent bacterial skin infections	1536	CYBB	OMIM:306400
HP:0005406	Recurrent bacterial skin infections	4615	MYD88	ORPHA:183713
HP:0005406	Recurrent bacterial skin infections	4688	NCF2	OMIM:233710
HP:0005406	Recurrent bacterial skin infections	653361	NCF1	OMIM:233700
HP:0005406	Recurrent bacterial skin infections	1535	CYBA	OMIM:233690
HP:0005406	Recurrent bacterial skin infections	7535	ZAP70	ORPHA:911
HP:0005406	Recurrent bacterial skin infections	7390	UROS	ORPHA:79277
HP:0005406	Recurrent bacterial skin infections	2623	GATA1	ORPHA:79277
HP:0005406	Recurrent bacterial skin infections	2050	EPHB4	ORPHA:90186
HP:0005406	Recurrent bacterial skin infections	6868	ADAM17	ORPHA:294023
HP:0005406	Recurrent bacterial skin infections	1956	EGFR	ORPHA:294023
HP:0005406	Recurrent bacterial skin infections	7389	UROD	ORPHA:95159
HP:0005406	Recurrent bacterial skin infections	81704	DOCK8	ORPHA:217390
HP:0005406	Recurrent bacterial skin infections	90268	OTULIN	OMIM:619986
HP:0005406	Recurrent bacterial skin infections	23765	IL17RA	OMIM:613953
HP:0005406	Recurrent bacterial skin infections	55851	PSENEN	OMIM:613736
HP:0005406	Recurrent bacterial skin infections	5663	PSEN1	OMIM:613737
HP:0005406	Recurrent bacterial skin infections	1075	CTSC	ORPHA:678
HP:0005406	Recurrent bacterial skin infections	10804	GJB6	ORPHA:477
HP:0005406	Recurrent bacterial skin infections	2706	GJB2	ORPHA:477
HP:0005406	Recurrent bacterial skin infections	146206	CARMIL2	OMIM:618131
HP:0005406	Recurrent bacterial skin infections	3937	LCP2	OMIM:619374
HP:0005406	Recurrent bacterial skin infections	7319	UBE2A	ORPHA:163956
HP:0007513	Generalized hypopigmentation	63915	BLOC1S5	OMIM:619172
HP:0007513	Generalized hypopigmentation	57724	EPG5	OMIM:242840
HP:0007513	Generalized hypopigmentation	7299	TYR	OMIM:606952
HP:0007513	Generalized hypopigmentation	7299	TYR	OMIM:203100
HP:0007513	Generalized hypopigmentation	7299	TYR	ORPHA:79431
HP:0007513	Generalized hypopigmentation	7299	TYR	ORPHA:79434
HP:0007513	Generalized hypopigmentation	8943	AP3D1	OMIM:617050
HP:0007513	Generalized hypopigmentation	83938	LRMDA	OMIM:615179
HP:0007513	Generalized hypopigmentation	11152	WDR45	OMIM:615179
HP:0007513	Generalized hypopigmentation	4948	OCA2	OMIM:203200
HP:0007513	Generalized hypopigmentation	4157	MC1R	OMIM:203200
HP:0007513	Generalized hypopigmentation	3257	HPS1	OMIM:203300
HP:0007513	Generalized hypopigmentation	51151	SLC45A2	OMIM:606574
HP:0007513	Generalized hypopigmentation	51151	SLC45A2	ORPHA:79435
HP:0007513	Generalized hypopigmentation	8546	AP3B1	OMIM:608233
HP:0007513	Generalized hypopigmentation	1910	EDNRB	OMIM:600501
HP:0007513	Generalized hypopigmentation	89781	HPS4	OMIM:614073
HP:0007513	Generalized hypopigmentation	11234	HPS5	OMIM:614074
HP:0007513	Generalized hypopigmentation	778	CACNA1F	OMIM:300600
HP:0007513	Generalized hypopigmentation	4286	MITF	OMIM:193510
HP:0007513	Generalized hypopigmentation	84343	HPS3	OMIM:614072
HP:0007513	Generalized hypopigmentation	7306	TYRP1	OMIM:203290
HP:0007513	Generalized hypopigmentation	388552	BLOC1S3	OMIM:614077
HP:0007513	Generalized hypopigmentation	79803	HPS6	OMIM:614075
HP:0007513	Generalized hypopigmentation	84062	DTNBP1	OMIM:614076
HP:0007513	Generalized hypopigmentation	9652	SKIC3	OMIM:222470
HP:0007513	Generalized hypopigmentation	9652	SKIC3	ORPHA:84064
HP:0007513	Generalized hypopigmentation	8882	ZPR1	OMIM:619321
HP:0007513	Generalized hypopigmentation	283652	SLC24A5	OMIM:113750
HP:0007513	Generalized hypopigmentation	3852	KRT5	ORPHA:158681
HP:0007513	Generalized hypopigmentation	8626	TP63	ORPHA:1896
HP:0007513	Generalized hypopigmentation	8626	TP63	OMIM:604292
HP:0007513	Generalized hypopigmentation	6499	SKIC2	ORPHA:84064
HP:0007513	Generalized hypopigmentation	5053	PAH	OMIM:261600
HP:0007513	Generalized hypopigmentation	23592	LEMD3	ORPHA:1306
HP:0007513	Generalized hypopigmentation	4952	OCRL	ORPHA:534
HP:0007513	Generalized hypopigmentation	7681	MKRN3	OMIM:176270
HP:0007513	Generalized hypopigmentation	3653	IPW	OMIM:176270
HP:0007513	Generalized hypopigmentation	54551	MAGEL2	OMIM:176270
HP:0007513	Generalized hypopigmentation	791114	PWRN1	OMIM:176270
HP:0007513	Generalized hypopigmentation	100033413	SNORD116-1	OMIM:176270
HP:0007513	Generalized hypopigmentation	8924	HERC2	OMIM:176270
HP:0007513	Generalized hypopigmentation	145624	PWAR1	OMIM:176270
HP:0007513	Generalized hypopigmentation	23742	NPAP1	OMIM:176270
HP:0007513	Generalized hypopigmentation	338433	SNORD115-1	OMIM:176270
HP:0007513	Generalized hypopigmentation	1130	LYST	ORPHA:352723
HP:0004334	Dermal atrophy	4088	SMAD3	ORPHA:284984
HP:0004334	Dermal atrophy	4088	SMAD3	OMIM:613795
HP:0004334	Dermal atrophy	8450	CUL4B	OMIM:300354
HP:0004334	Dermal atrophy	84196	USP48	ORPHA:96253
HP:0004334	Dermal atrophy	7157	TP53	ORPHA:96253
HP:0004334	Dermal atrophy	7157	TP53	ORPHA:1501
HP:0004334	Dermal atrophy	9101	USP8	ORPHA:96253
HP:0004334	Dermal atrophy	9101	USP8	OMIM:219090
HP:0004334	Dermal atrophy	64072	CDH23	ORPHA:96253
HP:0004334	Dermal atrophy	2908	NR3C1	ORPHA:96253
HP:0004334	Dermal atrophy	673	BRAF	ORPHA:96253
HP:0004334	Dermal atrophy	546	ATRX	ORPHA:96253
HP:0004334	Dermal atrophy	23013	SPEN	OMIM:619312
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:154700
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:608328
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:604308
HP:0004334	Dermal atrophy	1315	COPB1	OMIM:619255
HP:0004334	Dermal atrophy	5566	PRKACA	ORPHA:189439
HP:0004334	Dermal atrophy	8622	PDE8B	ORPHA:189439
HP:0004334	Dermal atrophy	5573	PRKAR1A	ORPHA:189439
HP:0004334	Dermal atrophy	5573	PRKAR1A	OMIM:610489
HP:0004334	Dermal atrophy	5573	PRKAR1A	ORPHA:1501
HP:0004334	Dermal atrophy	5573	PRKAR1A	ORPHA:1359
HP:0004334	Dermal atrophy	50940	PDE11A	ORPHA:189439
HP:0004334	Dermal atrophy	50940	PDE11A	OMIM:610475
HP:0004334	Dermal atrophy	50940	PDE11A	ORPHA:1359
HP:0004334	Dermal atrophy	4087	SMAD2	OMIM:619656
HP:0004334	Dermal atrophy	2778	GNAS	OMIM:219080
HP:0004334	Dermal atrophy	2778	GNAS	ORPHA:189427
HP:0004334	Dermal atrophy	7048	TGFBR2	OMIM:610168
HP:0004334	Dermal atrophy	7048	TGFBR2	ORPHA:60030
HP:0004334	Dermal atrophy	84133	ZNRF3	ORPHA:1501
HP:0004334	Dermal atrophy	1499	CTNNB1	ORPHA:1501
HP:0004334	Dermal atrophy	1029	CDKN2A	ORPHA:1501
HP:0004334	Dermal atrophy	7148	TNXB	OMIM:606408
HP:0004334	Dermal atrophy	633	BGN	OMIM:300989
HP:0004334	Dermal atrophy	4015	LOX	OMIM:617168
HP:0004334	Dermal atrophy	1742	DLG4	OMIM:618793
HP:0004334	Dermal atrophy	7046	TGFBR1	ORPHA:60030
HP:0004334	Dermal atrophy	10526	IPO8	ORPHA:60030
HP:0004334	Dermal atrophy	79798	ARMC5	ORPHA:189427
HP:0004334	Dermal atrophy	9049	AIP	OMIM:219090
HP:0004334	Dermal atrophy	5167	ENPP1	ORPHA:758
HP:0004334	Dermal atrophy	368	ABCC6	ORPHA:758
HP:0004334	Dermal atrophy	7042	TGFB2	OMIM:614816
HP:0004334	Dermal atrophy	1281	COL3A1	OMIM:130050
HP:0004334	Dermal atrophy	1281	COL3A1	ORPHA:286
HP:0004334	Dermal atrophy	1277	COL1A1	ORPHA:287
HP:0004334	Dermal atrophy	1289	COL5A1	ORPHA:287
HP:0004334	Dermal atrophy	1289	COL5A1	OMIM:130000
HP:0004334	Dermal atrophy	1290	COL5A2	ORPHA:287
HP:0004334	Dermal atrophy	1290	COL5A2	OMIM:130010
HP:0004334	Dermal atrophy	1303	COL12A1	ORPHA:610
HP:0004334	Dermal atrophy	1291	COL6A1	ORPHA:610
HP:0004334	Dermal atrophy	1292	COL6A2	ORPHA:610
HP:0004334	Dermal atrophy	1293	COL6A3	ORPHA:610
HP:0004334	Dermal atrophy	1075	CTSC	ORPHA:678
HP:0004334	Dermal atrophy	91252	SLC39A13	OMIM:612350
HP:0004334	Dermal atrophy	11285	B4GALT7	ORPHA:75496
HP:0004334	Dermal atrophy	11285	B4GALT7	OMIM:130070
HP:0004334	Dermal atrophy	3691	ITGB4	OMIM:226730
HP:0004334	Dermal atrophy	3691	ITGB4	ORPHA:158684
HP:0004334	Dermal atrophy	3691	ITGB4	ORPHA:79402
HP:0004334	Dermal atrophy	3861	KRT14	OMIM:131760
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:89838
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:79400
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:79396
HP:0004334	Dermal atrophy	3852	KRT5	OMIM:131760
HP:0004334	Dermal atrophy	3852	KRT5	ORPHA:79400
HP:0004334	Dermal atrophy	3852	KRT5	ORPHA:79396
HP:0004334	Dermal atrophy	1278	COL1A2	OMIM:225320
HP:0004334	Dermal atrophy	1278	COL1A2	ORPHA:230851
HP:0004334	Dermal atrophy	1278	COL1A2	OMIM:617821
HP:0004334	Dermal atrophy	4035	LRP1	ORPHA:79100
HP:0004334	Dermal atrophy	1308	COL17A1	ORPHA:79406
HP:0004334	Dermal atrophy	1308	COL17A1	ORPHA:79402
HP:0004334	Dermal atrophy	113189	CHST14	OMIM:601776
HP:0004334	Dermal atrophy	113189	CHST14	ORPHA:2953
HP:0004334	Dermal atrophy	4312	MMP1	ORPHA:79408
HP:0004334	Dermal atrophy	4312	MMP1	OMIM:226600
HP:0004334	Dermal atrophy	715	C1R	OMIM:130080
HP:0004334	Dermal atrophy	715	C1R	ORPHA:75392
HP:0004334	Dermal atrophy	55033	FKBP14	OMIM:614557
HP:0004334	Dermal atrophy	55033	FKBP14	ORPHA:300179
HP:0004334	Dermal atrophy	51816	ADA2	OMIM:182410
HP:0004334	Dermal atrophy	126792	B3GALT6	ORPHA:536467
HP:0004334	Dermal atrophy	126792	B3GALT6	OMIM:615349
HP:0004334	Dermal atrophy	716	C1S	ORPHA:75392
HP:0004334	Dermal atrophy	165	AEBP1	OMIM:618000
HP:0004334	Dermal atrophy	29940	DSE	ORPHA:2953
HP:0004334	Dermal atrophy	29940	DSE	OMIM:615539
HP:0004334	Dermal atrophy	5351	PLOD1	ORPHA:1900
HP:0004334	Dermal atrophy	3909	LAMA3	ORPHA:79402
HP:0004334	Dermal atrophy	3909	LAMA3	OMIM:226700
HP:0004334	Dermal atrophy	3918	LAMC2	ORPHA:79402
HP:0004334	Dermal atrophy	3918	LAMC2	OMIM:226700
HP:0004334	Dermal atrophy	3914	LAMB3	ORPHA:79402
HP:0004334	Dermal atrophy	3914	LAMB3	OMIM:226700
HP:0004334	Dermal atrophy	9509	ADAMTS2	OMIM:225410
HP:0004334	Dermal atrophy	146206	CARMIL2	OMIM:618131
HP:0004334	Dermal atrophy	667	DST	OMIM:615425
HP:0004334	Dermal atrophy	2074	ERCC6	OMIM:133540
HP:0004334	Dermal atrophy	2074	ERCC6	OMIM:278800
HP:0004334	Dermal atrophy	64840	PORCN	OMIM:305600
HP:0004334	Dermal atrophy	64840	PORCN	ORPHA:2092
HP:0004334	Dermal atrophy	10269	ZMPSTE24	OMIM:608612
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:740
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:90154
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:1662
HP:0004334	Dermal atrophy	54800	KLHL24	OMIM:617294
HP:0004334	Dermal atrophy	1643	DDB2	OMIM:278740
HP:0004334	Dermal atrophy	1643	DDB2	ORPHA:910
HP:0004334	Dermal atrophy	9401	RECQL4	ORPHA:221016
HP:0004334	Dermal atrophy	9401	RECQL4	OMIM:268400
HP:0004334	Dermal atrophy	9401	RECQL4	OMIM:218600
HP:0004334	Dermal atrophy	117581	TWIST2	OMIM:209885
HP:0004334	Dermal atrophy	1736	DKC1	OMIM:305000
HP:0004334	Dermal atrophy	1736	DKC1	ORPHA:3322
HP:0004334	Dermal atrophy	7507	XPA	OMIM:278700
HP:0004334	Dermal atrophy	7507	XPA	ORPHA:910
HP:0004334	Dermal atrophy	79650	USB1	OMIM:604173
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:740
HP:0004334	Dermal atrophy	4000	LMNA	OMIM:248370
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:90153
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:1662
HP:0004334	Dermal atrophy	1718	DHCR24	ORPHA:35107
HP:0004334	Dermal atrophy	5159	PDGFRB	OMIM:601812
HP:0004334	Dermal atrophy	4256	MGP	ORPHA:85202
HP:0004334	Dermal atrophy	1294	COL7A1	ORPHA:158673
HP:0004334	Dermal atrophy	1294	COL7A1	ORPHA:89843
HP:0004334	Dermal atrophy	54345	SOX18	ORPHA:69735
HP:0004334	Dermal atrophy	5429	POLH	OMIM:278750
HP:0004334	Dermal atrophy	5429	POLH	ORPHA:90342
HP:0004334	Dermal atrophy	2068	ERCC2	ORPHA:220295
HP:0004334	Dermal atrophy	2068	ERCC2	OMIM:278730
HP:0004334	Dermal atrophy	2068	ERCC2	ORPHA:910
HP:0004334	Dermal atrophy	2073	ERCC5	ORPHA:220295
HP:0004334	Dermal atrophy	2073	ERCC5	ORPHA:910
HP:0004334	Dermal atrophy	2072	ERCC4	ORPHA:220295
HP:0004334	Dermal atrophy	2072	ERCC4	OMIM:610965
HP:0004334	Dermal atrophy	2072	ERCC4	ORPHA:910
HP:0004334	Dermal atrophy	2071	ERCC3	ORPHA:220295
HP:0004334	Dermal atrophy	2071	ERCC3	OMIM:610651
HP:0004334	Dermal atrophy	2071	ERCC3	ORPHA:910
HP:0004334	Dermal atrophy	55612	FERMT1	OMIM:173650
HP:0004334	Dermal atrophy	26277	TINF2	OMIM:127550
HP:0004334	Dermal atrophy	26277	TINF2	ORPHA:3322
HP:0004334	Dermal atrophy	7012	TERC	OMIM:127550
HP:0004334	Dermal atrophy	7015	TERT	OMIM:127550
HP:0004334	Dermal atrophy	7015	TERT	ORPHA:3322
HP:0004334	Dermal atrophy	8626	TP63	OMIM:103285
HP:0004334	Dermal atrophy	10651	MTX2	ORPHA:90153
HP:0004334	Dermal atrophy	5339	PLEC	ORPHA:257
HP:0004334	Dermal atrophy	51750	RTEL1	ORPHA:3322
HP:0004334	Dermal atrophy	65057	ACD	ORPHA:3322
HP:0004334	Dermal atrophy	5073	PARN	ORPHA:3322
HP:0004334	Dermal atrophy	7508	XPC	OMIM:278720
HP:0004334	Dermal atrophy	7508	XPC	ORPHA:910
HP:0004334	Dermal atrophy	54539	NDUFB11	ORPHA:2556
HP:0004334	Dermal atrophy	1349	COX7B	ORPHA:2556
HP:0004334	Dermal atrophy	3052	HCCS	ORPHA:2556
HP:0004334	Dermal atrophy	7020	TFAP2A	OMIM:113620
HP:0004334	Dermal atrophy	5424	POLD1	OMIM:615381
HP:0004334	Dermal atrophy	64682	ANAPC1	ORPHA:221008
HP:0004334	Dermal atrophy	2934	GSN	ORPHA:85448
HP:0004334	Dermal atrophy	23592	LEMD3	ORPHA:1306
HP:0006579	Prolonged neonatal jaundice	10664	CTCF	ORPHA:363611
HP:0006579	Prolonged neonatal jaundice	23446	SLC44A1	OMIM:618868
HP:0006579	Prolonged neonatal jaundice	5626	PROP1	ORPHA:226307
HP:0006579	Prolonged neonatal jaundice	89884	LHX4	ORPHA:226307
HP:0006579	Prolonged neonatal jaundice	8022	LHX3	ORPHA:226307
HP:0006579	Prolonged neonatal jaundice	5449	POU1F1	ORPHA:226307
HP:0006579	Prolonged neonatal jaundice	5449	POU1F1	OMIM:613038
HP:0006579	Prolonged neonatal jaundice	8820	HESX1	ORPHA:226307
HP:0006579	Prolonged neonatal jaundice	1593	CYP27A1	ORPHA:909
HP:0006579	Prolonged neonatal jaundice	7167	TPI1	OMIM:615512
HP:0006579	Prolonged neonatal jaundice	8573	CASK	OMIM:300908
HP:0006579	Prolonged neonatal jaundice	2539	G6PD	OMIM:300908
HP:0006579	Prolonged neonatal jaundice	100151683	RNU4ATAC	OMIM:210710
HP:0006579	Prolonged neonatal jaundice	2584	GALK1	OMIM:230200
HP:0006579	Prolonged neonatal jaundice	23600	AMACR	OMIM:214950
HP:0006579	Prolonged neonatal jaundice	8405	SPOP	OMIM:618828
HP:0006579	Prolonged neonatal jaundice	8085	KMT2D	OMIM:620186
HP:0006579	Prolonged neonatal jaundice	6609	SMPD1	OMIM:257200
HP:0006579	Prolonged neonatal jaundice	6718	AKR1D1	ORPHA:79303
HP:0006579	Prolonged neonatal jaundice	64324	NSD1	ORPHA:821
HP:0006579	Prolonged neonatal jaundice	64324	NSD1	OMIM:117550
HP:0006579	Prolonged neonatal jaundice	29072	SETD2	ORPHA:821
HP:0006579	Prolonged neonatal jaundice	10297	APC2	ORPHA:821
HP:0006579	Prolonged neonatal jaundice	123264	SLC51B	OMIM:619481
HP:0006579	Prolonged neonatal jaundice	5631	PRPS1	ORPHA:423479
HP:0006579	Prolonged neonatal jaundice	11277	TREX1	OMIM:225750
HP:0006579	Prolonged neonatal jaundice	11277	TREX1	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	200894	ARL13B	OMIM:612291
HP:0006579	Prolonged neonatal jaundice	10525	HYOU1	OMIM:233600
HP:0006579	Prolonged neonatal jaundice	5184	PEPD	OMIM:170100
HP:0006579	Prolonged neonatal jaundice	50506	DUOX2	ORPHA:226316
HP:0006579	Prolonged neonatal jaundice	50506	DUOX2	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	5192	PEX10	OMIM:614871
HP:0006579	Prolonged neonatal jaundice	55904	KMT2E	OMIM:618512
HP:0006579	Prolonged neonatal jaundice	182	JAG1	OMIM:118450
HP:0006579	Prolonged neonatal jaundice	2542	SLC37A4	OMIM:619525
HP:0006579	Prolonged neonatal jaundice	25973	PARS2	OMIM:618437
HP:0006579	Prolonged neonatal jaundice	11093	ADAMTS13	OMIM:274150
HP:0006579	Prolonged neonatal jaundice	5189	PEX1	OMIM:214100
HP:0006579	Prolonged neonatal jaundice	7253	TSHR	ORPHA:90673
HP:0006579	Prolonged neonatal jaundice	7252	TSHB	ORPHA:90674
HP:0006579	Prolonged neonatal jaundice	9968	MED12	OMIM:301068
HP:0006579	Prolonged neonatal jaundice	6005	RHAG	OMIM:185000
HP:0006579	Prolonged neonatal jaundice	9095	TBX19	ORPHA:199296
HP:0006579	Prolonged neonatal jaundice	10577	NPC2	OMIM:607625
HP:0006579	Prolonged neonatal jaundice	6554	SLC10A1	OMIM:619256
HP:0006579	Prolonged neonatal jaundice	55898	UNC45A	OMIM:619377
HP:0006579	Prolonged neonatal jaundice	79989	IFT56	OMIM:619534
HP:0006579	Prolonged neonatal jaundice	537	ATP6AP1	OMIM:300972
HP:0006579	Prolonged neonatal jaundice	130589	GALM	OMIM:618881
HP:0006579	Prolonged neonatal jaundice	8565	YARS1	OMIM:619418
HP:0006579	Prolonged neonatal jaundice	405753	DUOXA2	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	6528	SLC5A5	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	7038	TG	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	7173	TPO	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	389434	IYD	ORPHA:95716
HP:0006579	Prolonged neonatal jaundice	4358	MPV17	OMIM:256810
HP:0006579	Prolonged neonatal jaundice	84317	CCDC115	OMIM:616828
HP:0006579	Prolonged neonatal jaundice	4864	NPC1	OMIM:257220
HP:0006579	Prolonged neonatal jaundice	7201	TRHR	ORPHA:99832
HP:0006579	Prolonged neonatal jaundice	5313	PKLR	ORPHA:766
HP:0006579	Prolonged neonatal jaundice	2035	EPB41	ORPHA:288
HP:0006579	Prolonged neonatal jaundice	2995	GYPC	ORPHA:288
HP:0006579	Prolonged neonatal jaundice	6710	SPTB	ORPHA:288
HP:0006579	Prolonged neonatal jaundice	6708	SPTA1	ORPHA:288
HP:0006579	Prolonged neonatal jaundice	538	ATP7A	ORPHA:565
HP:0006579	Prolonged neonatal jaundice	6567	SLC16A2	ORPHA:59
HP:0006579	Prolonged neonatal jaundice	2688	GH1	OMIM:262400
HP:0006579	Prolonged neonatal jaundice	1371	CPOX	OMIM:618892
HP:0006579	Prolonged neonatal jaundice	146059	CDAN1	OMIM:224120
HP:0006579	Prolonged neonatal jaundice	10535	RNASEH2A	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	84153	RNASEH2C	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	25939	SAMHD1	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	79621	RNASEH2B	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	103	ADAR	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	100147744	RNU7-1	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	134353	LSM11	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	64135	IFIH1	ORPHA:51
HP:0006579	Prolonged neonatal jaundice	54658	UGT1A1	ORPHA:79234
HP:0006579	Prolonged neonatal jaundice	54658	UGT1A1	ORPHA:79235
HP:0000987	Atypical scarring of skin	2074	ERCC6	OMIM:133540
HP:0000987	Atypical scarring of skin	92840	REEP6	ORPHA:791
HP:0000987	Atypical scarring of skin	6094	ROM1	ORPHA:791
HP:0000987	Atypical scarring of skin	6017	RLBP1	ORPHA:791
HP:0000987	Atypical scarring of skin	7401	CLRN1	ORPHA:791
HP:0000987	Atypical scarring of skin	24	ABCA4	ORPHA:791
HP:0000987	Atypical scarring of skin	130557	ZNF513	ORPHA:791
HP:0000987	Atypical scarring of skin	582	BBS1	ORPHA:791
HP:0000987	Atypical scarring of skin	92211	CDHR1	ORPHA:791
HP:0000987	Atypical scarring of skin	23568	ARL2BP	ORPHA:791
HP:0000987	Atypical scarring of skin	6121	RPE65	ORPHA:791
HP:0000987	Atypical scarring of skin	54806	AHI1	ORPHA:791
HP:0000987	Atypical scarring of skin	6101	RP1	ORPHA:791
HP:0000987	Atypical scarring of skin	3419	IDH3A	ORPHA:791
HP:0000987	Atypical scarring of skin	4751	NEK2	ORPHA:791
HP:0000987	Atypical scarring of skin	346007	EYS	ORPHA:791
HP:0000987	Atypical scarring of skin	8100	IFT88	ORPHA:791
HP:0000987	Atypical scarring of skin	23020	SNRNP200	ORPHA:791
HP:0000987	Atypical scarring of skin	762	CA4	ORPHA:791
HP:0000987	Atypical scarring of skin	138050	HGSNAT	ORPHA:791
HP:0000987	Atypical scarring of skin	196	AHR	ORPHA:791
HP:0000987	Atypical scarring of skin	3614	IMPDH1	ORPHA:791
HP:0000987	Atypical scarring of skin	123016	TTC8	ORPHA:791
HP:0000987	Atypical scarring of skin	6103	RPGR	ORPHA:791
HP:0000987	Atypical scarring of skin	1406	CRX	ORPHA:791
HP:0000987	Atypical scarring of skin	5148	PDE6G	ORPHA:791
HP:0000987	Atypical scarring of skin	26160	IFT172	ORPHA:791
HP:0000987	Atypical scarring of skin	26121	PRPF31	ORPHA:791
HP:0000987	Atypical scarring of skin	583	BBS2	ORPHA:791
HP:0000987	Atypical scarring of skin	4117	MAK	ORPHA:791
HP:0000987	Atypical scarring of skin	25794	FSCN2	ORPHA:791
HP:0000987	Atypical scarring of skin	375298	CERKL	ORPHA:791
HP:0000987	Atypical scarring of skin	3420	IDH3B	ORPHA:791
HP:0000987	Atypical scarring of skin	57670	KIAA1549	ORPHA:791
HP:0000987	Atypical scarring of skin	7275	TUB	ORPHA:791
HP:0000987	Atypical scarring of skin	24148	PRPF6	ORPHA:791
HP:0000987	Atypical scarring of skin	23418	CRB1	ORPHA:791
HP:0000987	Atypical scarring of skin	10461	MERTK	ORPHA:791
HP:0000987	Atypical scarring of skin	57709	SLC7A14	ORPHA:791
HP:0000987	Atypical scarring of skin	768206	PRCD	ORPHA:791
HP:0000987	Atypical scarring of skin	7399	USH2A	ORPHA:791
HP:0000987	Atypical scarring of skin	23370	ARHGEF18	ORPHA:791
HP:0000987	Atypical scarring of skin	5949	RBP3	ORPHA:791
HP:0000987	Atypical scarring of skin	6010	RHO	ORPHA:791
HP:0000987	Atypical scarring of skin	6100	RP9	ORPHA:791
HP:0000987	Atypical scarring of skin	10002	NR2E3	ORPHA:791
HP:0000987	Atypical scarring of skin	9227	LRAT	ORPHA:791
HP:0000987	Atypical scarring of skin	84140	FAM161A	ORPHA:791
HP:0000987	Atypical scarring of skin	55812	SPATA7	ORPHA:791
HP:0000987	Atypical scarring of skin	55624	POMGNT1	ORPHA:791
HP:0000987	Atypical scarring of skin	79797	ZNF408	ORPHA:791
HP:0000987	Atypical scarring of skin	403	ARL3	ORPHA:791
HP:0000987	Atypical scarring of skin	5145	PDE6A	ORPHA:791
HP:0000987	Atypical scarring of skin	10210	TOPORS	ORPHA:791
HP:0000987	Atypical scarring of skin	8842	PROM1	ORPHA:791
HP:0000987	Atypical scarring of skin	9128	PRPF4	ORPHA:791
HP:0000987	Atypical scarring of skin	145226	RDH12	ORPHA:791
HP:0000987	Atypical scarring of skin	50939	IMPG2	ORPHA:791
HP:0000987	Atypical scarring of skin	8481	OFD1	ORPHA:791
HP:0000987	Atypical scarring of skin	49855	SCAPER	ORPHA:791
HP:0000987	Atypical scarring of skin	9742	IFT140	ORPHA:791
HP:0000987	Atypical scarring of skin	2979	GUCA1B	ORPHA:791
HP:0000987	Atypical scarring of skin	1259	CNGA1	ORPHA:791
HP:0000987	Atypical scarring of skin	1258	CNGB1	ORPHA:791
HP:0000987	Atypical scarring of skin	60509	AGBL5	ORPHA:791
HP:0000987	Atypical scarring of skin	5961	PRPH2	ORPHA:791
HP:0000987	Atypical scarring of skin	388939	PCARE	ORPHA:791
HP:0000987	Atypical scarring of skin	7439	BEST1	ORPHA:791
HP:0000987	Atypical scarring of skin	9785	DHX38	ORPHA:791
HP:0000987	Atypical scarring of skin	7287	TULP1	ORPHA:791
HP:0000987	Atypical scarring of skin	5995	RGR	ORPHA:791
HP:0000987	Atypical scarring of skin	9129	PRPF3	ORPHA:791
HP:0000987	Atypical scarring of skin	55975	KLHL7	ORPHA:791
HP:0000987	Atypical scarring of skin	3617	IMPG1	ORPHA:791
HP:0000987	Atypical scarring of skin	94137	RP1L1	ORPHA:791
HP:0000987	Atypical scarring of skin	5158	PDE6B	ORPHA:791
HP:0000987	Atypical scarring of skin	6102	RP2	ORPHA:791
HP:0000987	Atypical scarring of skin	55857	KIZ	ORPHA:791
HP:0000987	Atypical scarring of skin	64218	SEMA4A	ORPHA:791
HP:0000987	Atypical scarring of skin	4901	NRL	ORPHA:791
HP:0000987	Atypical scarring of skin	157657	CFAP418	ORPHA:791
HP:0000987	Atypical scarring of skin	10594	PRPF8	ORPHA:791
HP:0000987	Atypical scarring of skin	84100	ARL6	ORPHA:791
HP:0000987	Atypical scarring of skin	6295	SAG	ORPHA:791
HP:0000987	Atypical scarring of skin	79947	DHDDS	ORPHA:791
HP:0000987	Atypical scarring of skin	55612	FERMT1	ORPHA:2908
HP:0000987	Atypical scarring of skin	84627	ZNF469	OMIM:229200
HP:0000987	Atypical scarring of skin	2050	EPHB4	ORPHA:90186
HP:0000987	Atypical scarring of skin	7020	TFAP2A	OMIM:113620
HP:0000987	Atypical scarring of skin	7020	TFAP2A	ORPHA:1297
HP:0000987	Atypical scarring of skin	4914	NTRK1	ORPHA:642
HP:0000987	Atypical scarring of skin	7046	TGFBR1	ORPHA:60030
HP:0000987	Atypical scarring of skin	10526	IPO8	ORPHA:60030
HP:0000987	Atypical scarring of skin	7048	TGFBR2	ORPHA:60030
HP:0000987	Atypical scarring of skin	23385	NCSTN	OMIM:142690
HP:0000987	Atypical scarring of skin	1371	CPOX	ORPHA:79273
HP:0000987	Atypical scarring of skin	1161	ERCC8	OMIM:216400
HP:0000987	Atypical scarring of skin	1281	COL3A1	OMIM:130050
HP:0000987	Atypical scarring of skin	1281	COL3A1	ORPHA:286
HP:0000987	Atypical scarring of skin	1277	COL1A1	ORPHA:287
HP:0000987	Atypical scarring of skin	1289	COL5A1	ORPHA:287
HP:0000987	Atypical scarring of skin	1289	COL5A1	OMIM:130000
HP:0000987	Atypical scarring of skin	1290	COL5A2	ORPHA:287
HP:0000987	Atypical scarring of skin	1290	COL5A2	OMIM:130010
HP:0000987	Atypical scarring of skin	1303	COL12A1	ORPHA:610
HP:0000987	Atypical scarring of skin	1291	COL6A1	ORPHA:610
HP:0000987	Atypical scarring of skin	1292	COL6A2	ORPHA:610
HP:0000987	Atypical scarring of skin	1293	COL6A3	ORPHA:610
HP:0000987	Atypical scarring of skin	1075	CTSC	ORPHA:678
HP:0000987	Atypical scarring of skin	91252	SLC39A13	OMIM:612350
HP:0000987	Atypical scarring of skin	11285	B4GALT7	ORPHA:75496
HP:0000987	Atypical scarring of skin	11285	B4GALT7	OMIM:130070
HP:0000987	Atypical scarring of skin	3861	KRT14	OMIM:131760
HP:0000987	Atypical scarring of skin	3861	KRT14	ORPHA:89838
HP:0000987	Atypical scarring of skin	3861	KRT14	ORPHA:79400
HP:0000987	Atypical scarring of skin	3861	KRT14	ORPHA:79396
HP:0000987	Atypical scarring of skin	3852	KRT5	OMIM:131760
HP:0000987	Atypical scarring of skin	3852	KRT5	ORPHA:79400
HP:0000987	Atypical scarring of skin	3852	KRT5	ORPHA:79396
HP:0000987	Atypical scarring of skin	1278	COL1A2	OMIM:225320
HP:0000987	Atypical scarring of skin	1278	COL1A2	ORPHA:230851
HP:0000987	Atypical scarring of skin	1278	COL1A2	OMIM:617821
HP:0000987	Atypical scarring of skin	4035	LRP1	ORPHA:79100
HP:0000987	Atypical scarring of skin	113189	CHST14	OMIM:601776
HP:0000987	Atypical scarring of skin	113189	CHST14	ORPHA:2953
HP:0000987	Atypical scarring of skin	4312	MMP1	ORPHA:79408
HP:0000987	Atypical scarring of skin	4312	MMP1	OMIM:226600
HP:0000987	Atypical scarring of skin	715	C1R	OMIM:130080
HP:0000987	Atypical scarring of skin	715	C1R	ORPHA:75392
HP:0000987	Atypical scarring of skin	55033	FKBP14	OMIM:614557
HP:0000987	Atypical scarring of skin	55033	FKBP14	ORPHA:300179
HP:0000987	Atypical scarring of skin	51816	ADA2	OMIM:182410
HP:0000987	Atypical scarring of skin	126792	B3GALT6	ORPHA:536467
HP:0000987	Atypical scarring of skin	126792	B3GALT6	OMIM:615349
HP:0000987	Atypical scarring of skin	716	C1S	ORPHA:75392
HP:0000987	Atypical scarring of skin	165	AEBP1	OMIM:618000
HP:0000987	Atypical scarring of skin	29940	DSE	ORPHA:2953
HP:0000987	Atypical scarring of skin	29940	DSE	OMIM:615539
HP:0000987	Atypical scarring of skin	4088	SMAD3	OMIM:613795
HP:0000987	Atypical scarring of skin	5351	PLOD1	ORPHA:1900
HP:0000987	Atypical scarring of skin	7148	TNXB	OMIM:606408
HP:0000987	Atypical scarring of skin	9509	ADAMTS2	OMIM:225410
HP:0000987	Atypical scarring of skin	146206	CARMIL2	OMIM:618131
HP:0000987	Atypical scarring of skin	667	DST	OMIM:615425
HP:0000987	Atypical scarring of skin	10804	GJB6	ORPHA:477
HP:0000987	Atypical scarring of skin	2706	GJB2	ORPHA:477
HP:0000987	Atypical scarring of skin	2706	GJB2	OMIM:602540
HP:0000987	Atypical scarring of skin	51360	MBTPS2	OMIM:308800
HP:0000987	Atypical scarring of skin	1308	COL17A1	OMIM:619787
HP:0000987	Atypical scarring of skin	1308	COL17A1	ORPHA:251393
HP:0000987	Atypical scarring of skin	1308	COL17A1	ORPHA:79402
HP:0000987	Atypical scarring of skin	5339	PLEC	OMIM:226670
HP:0000987	Atypical scarring of skin	5339	PLEC	ORPHA:158684
HP:0000987	Atypical scarring of skin	3691	ITGB4	ORPHA:158684
HP:0000987	Atypical scarring of skin	3691	ITGB4	ORPHA:251393
HP:0000987	Atypical scarring of skin	3691	ITGB4	ORPHA:79402
HP:0000987	Atypical scarring of skin	10682	EBP	ORPHA:35173
HP:0000987	Atypical scarring of skin	126695	KDF1	OMIM:617337
HP:0000987	Atypical scarring of skin	387	RHOA	OMIM:618727
HP:0000987	Atypical scarring of skin	9076	CLDN1	ORPHA:59303
HP:0000987	Atypical scarring of skin	7390	UROS	ORPHA:79277
HP:0000987	Atypical scarring of skin	2623	GATA1	ORPHA:79277
HP:0000987	Atypical scarring of skin	7389	UROD	ORPHA:95159
HP:0000987	Atypical scarring of skin	3909	LAMA3	ORPHA:79402
HP:0000987	Atypical scarring of skin	3918	LAMC2	ORPHA:79402
HP:0000987	Atypical scarring of skin	3914	LAMB3	ORPHA:79402
HP:0000987	Atypical scarring of skin	538	ATP7A	ORPHA:198
HP:0000987	Atypical scarring of skin	1387	CREBBP	ORPHA:353281
HP:0000987	Atypical scarring of skin	1387	CREBBP	OMIM:180849
HP:0000987	Atypical scarring of skin	1387	CREBBP	ORPHA:353277
HP:0000987	Atypical scarring of skin	4854	NOTCH3	OMIM:130720
HP:0000987	Atypical scarring of skin	5159	PDGFRB	OMIM:601812
HP:0000987	Atypical scarring of skin	23592	LEMD3	ORPHA:166119
HP:0000987	Atypical scarring of skin	2033	EP300	OMIM:180849
HP:0000987	Atypical scarring of skin	2033	EP300	ORPHA:353284
HP:0000987	Atypical scarring of skin	6885	MAP3K7	OMIM:617137
HP:0000987	Atypical scarring of skin	6885	MAP3K7	ORPHA:1826
HP:0000987	Atypical scarring of skin	324	APC	OMIM:175100
HP:0000987	Atypical scarring of skin	324	APC	ORPHA:79665
HP:0000987	Atypical scarring of skin	2316	FLNA	ORPHA:1826
HP:0000987	Atypical scarring of skin	1294	COL7A1	ORPHA:79410
HP:0000987	Atypical scarring of skin	4952	OCRL	OMIM:309000
HP:0000987	Atypical scarring of skin	22861	NLRP1	OMIM:618803
HP:0000988	Skin rash	3561	IL2RG	ORPHA:276
HP:0000988	Skin rash	3561	IL2RG	OMIM:300400
HP:0000988	Skin rash	9663	LPIN2	OMIM:609628
HP:0000988	Skin rash	64421	DCLRE1C	ORPHA:275
HP:0000988	Skin rash	90268	OTULIN	OMIM:617099
HP:0000988	Skin rash	144811	LACC1	ORPHA:85414
HP:0000988	Skin rash	144811	LACC1	OMIM:618795
HP:0000988	Skin rash	4282	MIF	ORPHA:85414
HP:0000988	Skin rash	3569	IL6	ORPHA:85414
HP:0000988	Skin rash	8737	RIPK1	OMIM:618108
HP:0000988	Skin rash	1776	DNASE1L3	ORPHA:36412
HP:0000988	Skin rash	79650	USB1	OMIM:604173
HP:0000988	Skin rash	58484	NLRC4	OMIM:616050
HP:0000988	Skin rash	55788	LMBRD1	OMIM:277380
HP:0000988	Skin rash	55788	LMBRD1	ORPHA:79284
HP:0000988	Skin rash	3141	HLCS	OMIM:253270
HP:0000988	Skin rash	3930	LBR	ORPHA:779
HP:0000988	Skin rash	134218	DNAJC21	ORPHA:811
HP:0000988	Skin rash	79631	EFL1	ORPHA:811
HP:0000988	Skin rash	51119	SBDS	ORPHA:811
HP:0000988	Skin rash	6729	SRP54	ORPHA:811
HP:0000988	Skin rash	5994	RFXAP	ORPHA:572
HP:0000988	Skin rash	4261	CIITA	ORPHA:572
HP:0000988	Skin rash	5993	RFX5	ORPHA:572
HP:0000988	Skin rash	8625	RFXANK	ORPHA:572
HP:0000988	Skin rash	5699	PSMB10	OMIM:619175
HP:0000988	Skin rash	7128	TNFAIP3	OMIM:616744
HP:0000988	Skin rash	6774	STAT3	ORPHA:2314
HP:0000988	Skin rash	6774	STAT3	OMIM:147060
HP:0000988	Skin rash	5896	RAG1	ORPHA:331206
HP:0000988	Skin rash	5897	RAG2	ORPHA:331206
HP:0000988	Skin rash	686	BTD	OMIM:253260
HP:0000988	Skin rash	686	BTD	ORPHA:79241
HP:0000988	Skin rash	10095	ARPC1B	OMIM:617718
HP:0000988	Skin rash	1130	LYST	ORPHA:167
HP:0000988	Skin rash	64127	NOD2	OMIM:617321
HP:0000988	Skin rash	64127	NOD2	ORPHA:90340
HP:0000988	Skin rash	84818	IL17RC	ORPHA:1334
HP:0000988	Skin rash	64581	CLEC7A	ORPHA:1334
HP:0000988	Skin rash	10758	TRAF3IP2	ORPHA:1334
HP:0000988	Skin rash	112744	IL17F	ORPHA:1334
HP:0000988	Skin rash	7010	TEK	ORPHA:1059
HP:0000988	Skin rash	23152	CIC	OMIM:617600
HP:0000988	Skin rash	2697	GJA1	ORPHA:317
HP:0000988	Skin rash	2707	GJB3	ORPHA:317
HP:0000988	Skin rash	2531	KDSR	ORPHA:317
HP:0000988	Skin rash	127534	GJB4	ORPHA:317
HP:0000988	Skin rash	84701	COX4I2	OMIM:612714
HP:0000988	Skin rash	54	ACP5	ORPHA:1855
HP:0000988	Skin rash	4069	LYZ	OMIM:105200
HP:0000988	Skin rash	2243	FGA	OMIM:105200
HP:0000988	Skin rash	335	APOA1	OMIM:105200
HP:0000988	Skin rash	567	B2M	OMIM:105200
HP:0000988	Skin rash	3115	HLA-DPB1	ORPHA:900
HP:0000988	Skin rash	5657	PRTN3	ORPHA:900
HP:0000988	Skin rash	3113	HLA-DPA1	ORPHA:900
HP:0000988	Skin rash	4210	MEFV	ORPHA:342
HP:0000988	Skin rash	5971	RELB	OMIM:617585
HP:0000988	Skin rash	5205	ATP8B1	ORPHA:69665
HP:0000988	Skin rash	8647	ABCB11	ORPHA:69665
HP:0000988	Skin rash	5244	ABCB4	ORPHA:69665
HP:0000988	Skin rash	9971	NR1H4	ORPHA:69665
HP:0000988	Skin rash	5788	PTPRC	OMIM:619924
HP:0000988	Skin rash	51816	ADA2	OMIM:615688
HP:0000988	Skin rash	3557	IL1RN	OMIM:612852
HP:0000988	Skin rash	2068	ERCC2	ORPHA:220295
HP:0000988	Skin rash	2073	ERCC5	ORPHA:220295
HP:0000988	Skin rash	2072	ERCC4	ORPHA:220295
HP:0000988	Skin rash	2071	ERCC3	ORPHA:220295
HP:0000988	Skin rash	64135	IFIH1	OMIM:615846
HP:0000988	Skin rash	91662	NLRP12	OMIM:611762
HP:0000988	Skin rash	3718	JAK3	ORPHA:35078
HP:0000988	Skin rash	695	BTK	ORPHA:47
HP:0000988	Skin rash	55739	NAXD	OMIM:618321
HP:0000988	Skin rash	51371	POMP	OMIM:618048
HP:0000988	Skin rash	5692	PSMB4	OMIM:617591
HP:0000988	Skin rash	5698	PSMB9	OMIM:617591
HP:0000988	Skin rash	3937	LCP2	OMIM:619374
HP:0000988	Skin rash	6389	SDHA	ORPHA:44890
HP:0000988	Skin rash	6390	SDHB	ORPHA:44890
HP:0000988	Skin rash	6391	SDHC	ORPHA:44890
HP:0000988	Skin rash	5156	PDGFRA	ORPHA:44890
HP:0000988	Skin rash	340024	SLC6A19	ORPHA:2116
HP:0000988	Skin rash	57393	CLTRN	ORPHA:2116
HP:0000988	Skin rash	100	ADA	OMIM:102700
HP:0000988	Skin rash	3458	IFNG	OMIM:618963
HP:0000988	Skin rash	3514	IGKC	ORPHA:183675
HP:0000988	Skin rash	3501	IGHG2	ORPHA:183675
HP:0000988	Skin rash	2000	ELF4	OMIM:301074
HP:0000988	Skin rash	10892	MALT1	OMIM:615468
HP:0000988	Skin rash	9181	ARHGEF2	OMIM:617523
HP:0000988	Skin rash	5167	ENPP1	ORPHA:758
HP:0000988	Skin rash	368	ABCC6	ORPHA:758
HP:0000988	Skin rash	7535	ZAP70	ORPHA:911
HP:0000988	Skin rash	940	CD28	ORPHA:2584
HP:0000988	Skin rash	7133	TNFRSF1B	ORPHA:2584
HP:0000988	Skin rash	204	AK2	ORPHA:33355
HP:0000988	Skin rash	56916	SMARCAD1	ORPHA:1658
HP:0000988	Skin rash	6929	TCF3	ORPHA:33110
HP:0000988	Skin rash	973	CD79A	ORPHA:33110
HP:0000988	Skin rash	974	CD79B	ORPHA:33110
HP:0000988	Skin rash	3543	IGLL1	ORPHA:33110
HP:0000988	Skin rash	3507	IGHM	ORPHA:33110
HP:0000988	Skin rash	29760	BLNK	ORPHA:33110
HP:0000988	Skin rash	5295	PIK3R1	ORPHA:33110
HP:0000988	Skin rash	56262	LRRC8A	ORPHA:33110
HP:0000988	Skin rash	11005	SPINK5	ORPHA:634
HP:0000988	Skin rash	23592	LEMD3	ORPHA:166119
HP:0000988	Skin rash	4688	NCF2	OMIM:233710
HP:0000988	Skin rash	1536	CYBB	OMIM:306400
HP:0000988	Skin rash	653361	NCF1	OMIM:233700
HP:0000988	Skin rash	1535	CYBA	OMIM:233690
HP:0000988	Skin rash	6775	STAT4	ORPHA:93552
HP:0000988	Skin rash	6696	SPP1	ORPHA:93552
HP:0000988	Skin rash	3654	IRAK1	ORPHA:93552
HP:0000988	Skin rash	4598	MVK	OMIM:610377
HP:0000988	Skin rash	7156	TOP3A	OMIM:618097
HP:0000988	Skin rash	8558	CDK10	OMIM:617694
HP:0000988	Skin rash	2212	FCGR2A	OMIM:152700
HP:0000988	Skin rash	2213	FCGR2B	OMIM:152700
HP:0000988	Skin rash	26191	PTPN22	OMIM:152700
HP:0000988	Skin rash	11277	TREX1	OMIM:152700
HP:0000988	Skin rash	1493	CTLA4	OMIM:152700
HP:0000988	Skin rash	1773	DNASE1	OMIM:152700
HP:0000988	Skin rash	641	BLM	OMIM:210900
HP:0000988	Skin rash	843	CASP10	OMIM:603909
HP:0000988	Skin rash	51284	TLR7	OMIM:301080
HP:0000988	Skin rash	6850	SYK	OMIM:619381
HP:0000988	Skin rash	340061	STING1	OMIM:615934
HP:0000988	Skin rash	23765	IL17RA	OMIM:613953
HP:0000988	Skin rash	5551	PRF1	ORPHA:540
HP:0000988	Skin rash	8676	STX11	ORPHA:540
HP:0000988	Skin rash	201294	UNC13D	ORPHA:540
HP:0000988	Skin rash	6813	STXBP2	ORPHA:540
HP:0000988	Skin rash	171023	ASXL1	ORPHA:98850
HP:0000988	Skin rash	54790	TET2	ORPHA:98850
HP:0000988	Skin rash	867	CBL	ORPHA:98850
HP:0000988	Skin rash	861	RUNX1	ORPHA:98850
HP:0000988	Skin rash	6427	SRSF2	ORPHA:98850
HP:0000988	Skin rash	57169	ZNFX1	OMIM:619644
HP:0000988	Skin rash	114548	NLRP3	OMIM:191900
HP:0000988	Skin rash	7132	TNFRSF1A	OMIM:142680
HP:0000988	Skin rash	8517	IKBKG	OMIM:308300
HP:0000988	Skin rash	3815	KIT	ORPHA:79455
HP:0000988	Skin rash	56244	BTNL2	ORPHA:797
HP:0000988	Skin rash	3123	HLA-DRB1	ORPHA:797
HP:0000988	Skin rash	2038	EPB42	ORPHA:822
HP:0000988	Skin rash	6521	SLC4A1	ORPHA:822
HP:0000988	Skin rash	6710	SPTB	ORPHA:822
HP:0000988	Skin rash	6708	SPTA1	ORPHA:822
HP:0000988	Skin rash	286	ANK1	ORPHA:822
HP:0000989	Pruritus	6335	SCN9A	OMIM:133020
HP:0000989	Pruritus	6335	SCN9A	ORPHA:90026
HP:0000989	Pruritus	171023	ASXL1	ORPHA:98850
HP:0000989	Pruritus	171023	ASXL1	ORPHA:98849
HP:0000989	Pruritus	54790	TET2	ORPHA:98850
HP:0000989	Pruritus	54790	TET2	ORPHA:98849
HP:0000989	Pruritus	54790	TET2	ORPHA:729
HP:0000989	Pruritus	867	CBL	ORPHA:98850
HP:0000989	Pruritus	861	RUNX1	ORPHA:98850
HP:0000989	Pruritus	6427	SRSF2	ORPHA:98850
HP:0000989	Pruritus	6427	SRSF2	ORPHA:98849
HP:0000989	Pruritus	4352	MPL	ORPHA:71493
HP:0000989	Pruritus	4352	MPL	ORPHA:729
HP:0000989	Pruritus	7066	THPO	ORPHA:71493
HP:0000989	Pruritus	3717	JAK2	ORPHA:71493
HP:0000989	Pruritus	3717	JAK2	ORPHA:729
HP:0000989	Pruritus	3815	KIT	ORPHA:280785
HP:0000989	Pruritus	3815	KIT	ORPHA:98849
HP:0000989	Pruritus	3815	KIT	ORPHA:79455
HP:0000989	Pruritus	2235	FECH	OMIM:177000
HP:0000989	Pruritus	2235	FECH	ORPHA:79278
HP:0000989	Pruritus	6809	STX3	ORPHA:2290
HP:0000989	Pruritus	4645	MYO5B	ORPHA:2290
HP:0000989	Pruritus	4645	MYO5B	OMIM:619868
HP:0000989	Pruritus	3852	KRT5	ORPHA:158681
HP:0000989	Pruritus	3852	KRT5	ORPHA:79145
HP:0000989	Pruritus	3852	KRT5	ORPHA:79400
HP:0000989	Pruritus	3852	KRT5	ORPHA:79399
HP:0000989	Pruritus	1499	CTNNB1	ORPHA:91414
HP:0000989	Pruritus	5156	PDGFRA	OMIM:607685
HP:0000989	Pruritus	2057	EPOR	ORPHA:90042
HP:0000989	Pruritus	56983	POGLUT1	ORPHA:79145
HP:0000989	Pruritus	56983	POGLUT1	OMIM:615696
HP:0000989	Pruritus	23509	POFUT1	ORPHA:79145
HP:0000989	Pruritus	55851	PSENEN	ORPHA:79145
HP:0000989	Pruritus	1776	DNASE1L3	ORPHA:36412
HP:0000989	Pruritus	80270	HSD3B7	ORPHA:79301
HP:0000989	Pruritus	5314	PKHD1	ORPHA:53035
HP:0000989	Pruritus	362	AQP5	ORPHA:2337
HP:0000989	Pruritus	7512	XPNPEP2	ORPHA:100057
HP:0000989	Pruritus	10999	SLC27A4	OMIM:608649
HP:0000989	Pruritus	831	CAST	OMIM:616295
HP:0000989	Pruritus	1294	COL7A1	ORPHA:89843
HP:0000989	Pruritus	1294	COL7A1	ORPHA:79410
HP:0000989	Pruritus	1294	COL7A1	OMIM:131850
HP:0000989	Pruritus	84936	ZFYVE19	OMIM:619849
HP:0000989	Pruritus	672	BRCA1	ORPHA:70567
HP:0000989	Pruritus	675	BRCA2	ORPHA:70567
HP:0000989	Pruritus	5774	PTPN3	ORPHA:70567
HP:0000989	Pruritus	64065	PERP	OMIM:619208
HP:0000989	Pruritus	3930	LBR	ORPHA:779
HP:0000989	Pruritus	3930	LBR	OMIM:613471
HP:0000989	Pruritus	488	ATP2A2	OMIM:124200
HP:0000989	Pruritus	488	ATP2A2	ORPHA:218
HP:0000989	Pruritus	388698	FLG2	OMIM:618084
HP:0000989	Pruritus	3861	KRT14	ORPHA:89838
HP:0000989	Pruritus	3861	KRT14	ORPHA:79400
HP:0000989	Pruritus	3861	KRT14	ORPHA:79399
HP:0000989	Pruritus	8647	ABCB11	OMIM:601847
HP:0000989	Pruritus	8647	ABCB11	OMIM:605479
HP:0000989	Pruritus	8647	ABCB11	ORPHA:69665
HP:0000989	Pruritus	51473	DCDC2	OMIM:617394
HP:0000989	Pruritus	2859	GPR35	ORPHA:171
HP:0000989	Pruritus	10507	SEMA4D	ORPHA:171
HP:0000989	Pruritus	4485	MST1	ORPHA:171
HP:0000989	Pruritus	6925	TCF4	ORPHA:171
HP:0000989	Pruritus	114548	NLRP3	ORPHA:47045
HP:0000989	Pruritus	11280	SCN11A	ORPHA:90026
HP:0000989	Pruritus	11280	SCN11A	OMIM:615548
HP:0000989	Pruritus	6336	SCN10A	ORPHA:90026
HP:0000989	Pruritus	6774	STAT3	ORPHA:2314
HP:0000989	Pruritus	3858	KRT10	OMIM:609165
HP:0000989	Pruritus	7389	UROD	ORPHA:95159
HP:0000989	Pruritus	6768	ST14	OMIM:602400
HP:0000989	Pruritus	54795	TRPM4	OMIM:618531
HP:0000989	Pruritus	5244	ABCB4	OMIM:614972
HP:0000989	Pruritus	5244	ABCB4	OMIM:602347
HP:0000989	Pruritus	5244	ABCB4	ORPHA:69665
HP:0000989	Pruritus	84818	IL17RC	ORPHA:1334
HP:0000989	Pruritus	64581	CLEC7A	ORPHA:1334
HP:0000989	Pruritus	23765	IL17RA	ORPHA:1334
HP:0000989	Pruritus	10758	TRAF3IP2	ORPHA:1334
HP:0000989	Pruritus	112744	IL17F	ORPHA:1334
HP:0000989	Pruritus	151516	ASPRV1	OMIM:146750
HP:0000989	Pruritus	151516	ASPRV1	ORPHA:313
HP:0000989	Pruritus	1474	CST6	OMIM:618535
HP:0000989	Pruritus	63894	VIPAS39	OMIM:613404
HP:0000989	Pruritus	1832	DSP	OMIM:615821
HP:0000989	Pruritus	28234	SLCO1B3	ORPHA:3111
HP:0000989	Pruritus	10599	SLCO1B1	ORPHA:3111
HP:0000989	Pruritus	242	ALOX12B	ORPHA:313
HP:0000989	Pruritus	242	ALOX12B	ORPHA:79394
HP:0000989	Pruritus	126410	CYP4F22	ORPHA:313
HP:0000989	Pruritus	6820	SULT2B1	ORPHA:313
HP:0000989	Pruritus	6820	SULT2B1	OMIM:617571
HP:0000989	Pruritus	26154	ABCA12	ORPHA:313
HP:0000989	Pruritus	26154	ABCA12	ORPHA:79394
HP:0000989	Pruritus	643418	LIPN	ORPHA:313
HP:0000989	Pruritus	59344	ALOXE3	ORPHA:313
HP:0000989	Pruritus	59344	ALOXE3	ORPHA:79394
HP:0000989	Pruritus	348938	NIPAL4	ORPHA:313
HP:0000989	Pruritus	348938	NIPAL4	ORPHA:79394
HP:0000989	Pruritus	121214	SDR9C7	ORPHA:313
HP:0000989	Pruritus	7051	TGM1	ORPHA:313
HP:0000989	Pruritus	7051	TGM1	ORPHA:79394
HP:0000989	Pruritus	2313	FLI1	ORPHA:370348
HP:0000989	Pruritus	3939	LDHA	ORPHA:284426
HP:0000989	Pruritus	57003	CCDC47	OMIM:618268
HP:0000989	Pruritus	8482	SEMA7A	OMIM:619874
HP:0000989	Pruritus	5339	PLEC	OMIM:616487
HP:0000989	Pruritus	1041	CDSN	ORPHA:90368
HP:0000989	Pruritus	1041	CDSN	OMIM:270300
HP:0000989	Pruritus	121391	KRT74	ORPHA:90368
HP:0000989	Pruritus	540	ATP7B	ORPHA:905
HP:0000989	Pruritus	5336	PLCG2	OMIM:614468
HP:0000989	Pruritus	5205	ATP8B1	OMIM:211600
HP:0000989	Pruritus	5205	ATP8B1	ORPHA:69665
HP:0000989	Pruritus	5205	ATP8B1	OMIM:243300
HP:0000989	Pruritus	5205	ATP8B1	OMIM:147480
HP:0000989	Pruritus	4157	MC1R	ORPHA:626
HP:0000989	Pruritus	4893	NRAS	ORPHA:626
HP:0000989	Pruritus	3122	HLA-DRA	ORPHA:505
HP:0000989	Pruritus	4035	LRP1	ORPHA:79100
HP:0000989	Pruritus	6023	RMRP	ORPHA:39041
HP:0000989	Pruritus	55636	CHD7	ORPHA:39041
HP:0000989	Pruritus	3981	LIG4	ORPHA:39041
HP:0000989	Pruritus	5896	RAG1	ORPHA:39041
HP:0000989	Pruritus	5897	RAG2	ORPHA:39041
HP:0000989	Pruritus	64421	DCLRE1C	ORPHA:39041
HP:0000989	Pruritus	100	ADA	ORPHA:39041
HP:0000989	Pruritus	3575	IL7R	ORPHA:39041
HP:0000989	Pruritus	3561	IL2RG	ORPHA:39041
HP:0000989	Pruritus	5184	PEPD	ORPHA:742
HP:0000989	Pruritus	79092	CARD14	ORPHA:2897
HP:0000989	Pruritus	3594	IL12RB1	ORPHA:186
HP:0000989	Pruritus	23534	TNPO3	ORPHA:186
HP:0000989	Pruritus	3592	IL12A	ORPHA:186
HP:0000989	Pruritus	6689	SPIB	ORPHA:186
HP:0000989	Pruritus	5450	POU2AF1	ORPHA:186
HP:0000989	Pruritus	9966	TNFSF15	ORPHA:186
HP:0000989	Pruritus	79258	MMEL1	ORPHA:186
HP:0000989	Pruritus	3663	IRF5	ORPHA:186
HP:0000989	Pruritus	2934	GSN	ORPHA:85448
HP:0000989	Pruritus	162514	TRPV3	OMIM:614594
HP:0000989	Pruritus	9971	NR1H4	ORPHA:69665
HP:0000989	Pruritus	10654	PMVK	ORPHA:735
HP:0000989	Pruritus	4598	MVK	ORPHA:735
HP:0000989	Pruritus	4598	MVK	ORPHA:79152
HP:0000989	Pruritus	9414	TJP2	OMIM:607748
HP:0000989	Pruritus	9968	MED12	OMIM:301068
HP:0000989	Pruritus	9076	CLDN1	OMIM:607626
HP:0000989	Pruritus	9180	OSMR	OMIM:105250
HP:0000989	Pruritus	84905	ZNF341	OMIM:618282
HP:0000989	Pruritus	147409	DSG4	OMIM:607903
HP:0000989	Pruritus	1493	CTLA4	ORPHA:3162
HP:0000989	Pruritus	1493	CTLA4	ORPHA:2584
HP:0000989	Pruritus	940	CD28	ORPHA:3162
HP:0000989	Pruritus	940	CD28	ORPHA:2584
HP:0000989	Pruritus	7133	TNFRSF1B	ORPHA:3162
HP:0000989	Pruritus	7133	TNFRSF1B	ORPHA:2584
HP:0000989	Pruritus	55898	UNC45A	OMIM:619377
HP:0000989	Pruritus	5317	PKP1	ORPHA:158668
HP:0000989	Pruritus	64377	CHST8	OMIM:616265
HP:0000989	Pruritus	54532	USP53	OMIM:619658
HP:0000989	Pruritus	133396	IL31RA	OMIM:613955
HP:0000989	Pruritus	2271	FH	ORPHA:523
HP:0000989	Pruritus	375056	MIA3	OMIM:619269
HP:0000989	Pruritus	113220	KIF12	OMIM:619662
HP:0000989	Pruritus	10457	GPNMB	OMIM:617920
HP:0000989	Pruritus	2034	EPAS1	OMIM:611783
HP:0000989	Pruritus	204219	CERS3	ORPHA:79394
HP:0000989	Pruritus	285848	PNPLA1	ORPHA:79394
HP:0000989	Pruritus	2224	FDPS	ORPHA:79152
HP:0000989	Pruritus	4597	MVD	ORPHA:79152
HP:0000989	Pruritus	63910	SLC17A9	ORPHA:79152
HP:0000989	Pruritus	5167	ENPP1	ORPHA:758
HP:0000989	Pruritus	368	ABCC6	ORPHA:758
HP:0000989	Pruritus	7390	UROS	ORPHA:79277
HP:0000989	Pruritus	2623	GATA1	ORPHA:79277
HP:0000989	Pruritus	26276	VPS33B	OMIM:620010
HP:0000989	Pruritus	3988	LIPA	ORPHA:75234
HP:0000989	Pruritus	1080	CFTR	ORPHA:498359
HP:0000991	Xanthomatosis	3949	LDLR	ORPHA:391665
HP:0000991	Xanthomatosis	255738	PCSK9	ORPHA:391665
HP:0000991	Xanthomatosis	26119	LDLRAP1	ORPHA:391665
HP:0000991	Xanthomatosis	338	APOB	ORPHA:391665
HP:0000991	Xanthomatosis	64240	ABCG5	ORPHA:391665
HP:0000991	Xanthomatosis	4000	LMNA	ORPHA:280365
HP:0000991	Xanthomatosis	4000	LMNA	OMIM:151660
HP:0000991	Xanthomatosis	4000	LMNA	ORPHA:79084
HP:0000991	Xanthomatosis	4000	LMNA	ORPHA:2348
HP:0000991	Xanthomatosis	2538	G6PC1	OMIM:232200
HP:0000991	Xanthomatosis	5468	PPARG	ORPHA:79083
HP:0000991	Xanthomatosis	2260	FGFR1	ORPHA:2396
HP:0000991	Xanthomatosis	3845	KRAS	ORPHA:2396
HP:0000991	Xanthomatosis	2542	SLC37A4	OMIM:232220
HP:0000991	Xanthomatosis	2542	SLC37A4	OMIM:232240
HP:0000991	Xanthomatosis	6609	SMPD1	OMIM:257200
HP:0000991	Xanthomatosis	335	APOA1	ORPHA:425
HP:0000991	Xanthomatosis	19	ABCA1	ORPHA:425
HP:0000991	Xanthomatosis	344	APOC2	OMIM:207750
HP:0000991	Xanthomatosis	3990	LIPC	OMIM:614025
HP:0000991	Xanthomatosis	3990	LIPC	ORPHA:140905
HP:0000991	Xanthomatosis	338328	GPIHBP1	OMIM:615947
HP:0000991	Xanthomatosis	4023	LPL	OMIM:238600
HP:0000991	Xanthomatosis	116519	APOA5	OMIM:145750
HP:0000991	Xanthomatosis	5159	PDGFRB	OMIM:616592
HP:0000991	Xanthomatosis	161742	SPRED1	ORPHA:137605
HP:0000991	Xanthomatosis	336	APOA2	OMIM:143890
HP:0000991	Xanthomatosis	2053	EPHX2	OMIM:143890
HP:0000991	Xanthomatosis	10842	PPP1R17	OMIM:143890
HP:0000991	Xanthomatosis	2690	GHR	OMIM:143890
HP:0000991	Xanthomatosis	1071	CETP	ORPHA:79506
HP:0000991	Xanthomatosis	345	APOC3	ORPHA:79506
HP:0000991	Xanthomatosis	7274	TTPA	OMIM:277460
HP:0000991	Xanthomatosis	348	APOE	ORPHA:412
HP:0000991	Xanthomatosis	1593	CYP27A1	OMIM:213700
HP:0000991	Xanthomatosis	64241	ABCG8	OMIM:210250
HP:0000991	Xanthomatosis	64788	LMF1	OMIM:246650
HP:0000992	Cutaneous photosensitivity	3858	KRT10	ORPHA:312
HP:0000992	Cutaneous photosensitivity	3848	KRT1	ORPHA:312
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:133540
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:90324
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:600630
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:278800
HP:0000992	Cutaneous photosensitivity	720	C4A	OMIM:614380
HP:0000992	Cutaneous photosensitivity	212	ALAS2	OMIM:300752
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	ORPHA:90324
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	OMIM:216400
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	OMIM:614621
HP:0000992	Cutaneous photosensitivity	1643	DDB2	OMIM:278740
HP:0000992	Cutaneous photosensitivity	1643	DDB2	ORPHA:910
HP:0000992	Cutaneous photosensitivity	7518	XRCC4	ORPHA:99812
HP:0000992	Cutaneous photosensitivity	3981	LIG4	ORPHA:99812
HP:0000992	Cutaneous photosensitivity	3981	LIG4	OMIM:606593
HP:0000992	Cutaneous photosensitivity	3981	LIG4	ORPHA:235
HP:0000992	Cutaneous photosensitivity	144165	PRICKLE1	ORPHA:308
HP:0000992	Cutaneous photosensitivity	1476	CSTB	ORPHA:308
HP:0000992	Cutaneous photosensitivity	950	SCARB2	ORPHA:308
HP:0000992	Cutaneous photosensitivity	5111	PCNA	OMIM:615919
HP:0000992	Cutaneous photosensitivity	5111	PCNA	ORPHA:438134
HP:0000992	Cutaneous photosensitivity	7681	MKRN3	OMIM:176270
HP:0000992	Cutaneous photosensitivity	3653	IPW	OMIM:176270
HP:0000992	Cutaneous photosensitivity	54551	MAGEL2	OMIM:176270
HP:0000992	Cutaneous photosensitivity	791114	PWRN1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	100033413	SNORD116-1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	8924	HERC2	OMIM:176270
HP:0000992	Cutaneous photosensitivity	145624	PWAR1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	23742	NPAP1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	338433	SNORD115-1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	OMIM:278760
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	OMIM:610965
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:910
HP:0000992	Cutaneous photosensitivity	9401	RECQL4	OMIM:268400
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	OMIM:616570
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	OMIM:278780
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:910
HP:0000992	Cutaneous photosensitivity	6096	RORB	OMIM:618357
HP:0000992	Cutaneous photosensitivity	1294	COL7A1	ORPHA:158673
HP:0000992	Cutaneous photosensitivity	5429	POLH	OMIM:278750
HP:0000992	Cutaneous photosensitivity	5429	POLH	ORPHA:90342
HP:0000992	Cutaneous photosensitivity	5498	PPOX	OMIM:176200
HP:0000992	Cutaneous photosensitivity	5498	PPOX	ORPHA:79473
HP:0000992	Cutaneous photosensitivity	3077	HFE	OMIM:176200
HP:0000992	Cutaneous photosensitivity	3077	HFE	OMIM:176100
HP:0000992	Cutaneous photosensitivity	1717	DHCR7	ORPHA:818
HP:0000992	Cutaneous photosensitivity	8626	TP63	OMIM:103285
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:610756
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:601675
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:278730
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:910
HP:0000992	Cutaneous photosensitivity	1536	CYBB	ORPHA:379
HP:0000992	Cutaneous photosensitivity	4688	NCF2	ORPHA:379
HP:0000992	Cutaneous photosensitivity	1535	CYBA	ORPHA:379
HP:0000992	Cutaneous photosensitivity	4689	NCF4	ORPHA:379
HP:0000992	Cutaneous photosensitivity	653361	NCF1	ORPHA:379
HP:0000992	Cutaneous photosensitivity	79415	CYBC1	ORPHA:379
HP:0000992	Cutaneous photosensitivity	64135	IFIH1	OMIM:182250
HP:0000992	Cutaneous photosensitivity	8831	SYNGAP1	ORPHA:544254
HP:0000992	Cutaneous photosensitivity	2067	ERCC1	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	340024	SLC6A19	OMIM:234500
HP:0000992	Cutaneous photosensitivity	340024	SLC6A19	ORPHA:2116
HP:0000992	Cutaneous photosensitivity	1130	LYST	ORPHA:167
HP:0000992	Cutaneous photosensitivity	10845	CLPX	OMIM:618015
HP:0000992	Cutaneous photosensitivity	1656	DDX6	OMIM:618653
HP:0000992	Cutaneous photosensitivity	146206	CARMIL2	OMIM:618131
HP:0000992	Cutaneous photosensitivity	1371	CPOX	OMIM:618892
HP:0000992	Cutaneous photosensitivity	1371	CPOX	OMIM:121300
HP:0000992	Cutaneous photosensitivity	1371	CPOX	ORPHA:79273
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	OMIM:610651
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	OMIM:616390
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:910
HP:0000992	Cutaneous photosensitivity	2697	GJA1	ORPHA:317
HP:0000992	Cutaneous photosensitivity	2707	GJB3	ORPHA:317
HP:0000992	Cutaneous photosensitivity	2531	KDSR	ORPHA:317
HP:0000992	Cutaneous photosensitivity	127534	GJB4	ORPHA:317
HP:0000992	Cutaneous photosensitivity	54888	NSUN2	ORPHA:235
HP:0000992	Cutaneous photosensitivity	7737	RNF113A	OMIM:300953
HP:0000992	Cutaneous photosensitivity	7737	RNF113A	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	6897	TARS1	OMIM:618546
HP:0000992	Cutaneous photosensitivity	6897	TARS1	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	375748	ERCC6L2	OMIM:615715
HP:0000992	Cutaneous photosensitivity	5184	PEPD	ORPHA:742
HP:0000992	Cutaneous photosensitivity	7507	XPA	OMIM:278700
HP:0000992	Cutaneous photosensitivity	7507	XPA	ORPHA:910
HP:0000992	Cutaneous photosensitivity	284252	KCTD1	OMIM:181270
HP:0000992	Cutaneous photosensitivity	2222	FDFT1	OMIM:618156
HP:0000992	Cutaneous photosensitivity	641	BLM	OMIM:210900
HP:0000992	Cutaneous photosensitivity	641	BLM	ORPHA:125
HP:0000992	Cutaneous photosensitivity	55612	FERMT1	OMIM:173650
HP:0000992	Cutaneous photosensitivity	55612	FERMT1	ORPHA:2908
HP:0000992	Cutaneous photosensitivity	10654	PMVK	ORPHA:735
HP:0000992	Cutaneous photosensitivity	4598	MVK	ORPHA:735
HP:0000992	Cutaneous photosensitivity	4598	MVK	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	7390	UROS	OMIM:263700
HP:0000992	Cutaneous photosensitivity	57393	CLTRN	ORPHA:2116
HP:0000992	Cutaneous photosensitivity	57654	UVSSA	OMIM:614640
HP:0000992	Cutaneous photosensitivity	2961	GTF2E2	OMIM:616943
HP:0000992	Cutaneous photosensitivity	2961	GTF2E2	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	4683	NBN	ORPHA:647
HP:0000992	Cutaneous photosensitivity	404672	GTF2H5	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	404672	GTF2H5	OMIM:616395
HP:0000992	Cutaneous photosensitivity	833	CARS1	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	136647	MPLKIP	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	11277	TREX1	OMIM:610448
HP:0000992	Cutaneous photosensitivity	11277	TREX1	OMIM:152700
HP:0000992	Cutaneous photosensitivity	7508	XPC	OMIM:278720
HP:0000992	Cutaneous photosensitivity	7508	XPC	ORPHA:910
HP:0000992	Cutaneous photosensitivity	10058	ABCB6	ORPHA:241
HP:0000992	Cutaneous photosensitivity	10457	GPNMB	OMIM:617920
HP:0000992	Cutaneous photosensitivity	2212	FCGR2A	OMIM:152700
HP:0000992	Cutaneous photosensitivity	2213	FCGR2B	OMIM:152700
HP:0000992	Cutaneous photosensitivity	26191	PTPN22	OMIM:152700
HP:0000992	Cutaneous photosensitivity	1493	CTLA4	OMIM:152700
HP:0000992	Cutaneous photosensitivity	1773	DNASE1	OMIM:152700
HP:0000992	Cutaneous photosensitivity	7957	EPM2A	OMIM:254780
HP:0000992	Cutaneous photosensitivity	378884	NHLRC1	OMIM:254780
HP:0000992	Cutaneous photosensitivity	25939	SAMHD1	OMIM:614415
HP:0000992	Cutaneous photosensitivity	2224	FDPS	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	4597	MVD	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	63910	SLC17A9	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	7389	UROD	OMIM:176100
HP:0000992	Cutaneous photosensitivity	3852	KRT5	ORPHA:79397
HP:0000992	Cutaneous photosensitivity	3861	KRT14	ORPHA:79397
HP:0000992	Cutaneous photosensitivity	2235	FECH	ORPHA:79278
HP:0000992	Cutaneous photosensitivity	2623	GATA1	ORPHA:79277
HP:0000993	Molluscoid pseudotumors	1281	COL3A1	OMIM:130050
HP:0000993	Molluscoid pseudotumors	1277	COL1A1	ORPHA:287
HP:0000993	Molluscoid pseudotumors	1289	COL5A1	ORPHA:287
HP:0000993	Molluscoid pseudotumors	1289	COL5A1	OMIM:130000
HP:0000993	Molluscoid pseudotumors	1290	COL5A2	ORPHA:287
HP:0000993	Molluscoid pseudotumors	1290	COL5A2	OMIM:130010
HP:0000993	Molluscoid pseudotumors	5351	PLOD1	OMIM:225400
HP:0000993	Molluscoid pseudotumors	84627	ZNF469	OMIM:229200
HP:0007385	Aplasia cutis congenita of scalp	9790	BMS1	ORPHA:1114
HP:0007385	Aplasia cutis congenita of scalp	9790	BMS1	OMIM:107600
HP:0007385	Aplasia cutis congenita of scalp	55784	MCTP2	ORPHA:1596
HP:0007385	Aplasia cutis congenita of scalp	999	CDH1	OMIM:119580
HP:0007385	Aplasia cutis congenita of scalp	79796	ALG9	ORPHA:79328
HP:0007385	Aplasia cutis congenita of scalp	197131	UBR1	OMIM:243800
HP:0007385	Aplasia cutis congenita of scalp	10815	CPLX1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	10815	CPLX1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	54872	PIGG	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	7469	NELFA	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	1487	CTBP1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	1487	CTBP1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	3954	LETM1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	3954	LETM1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	7468	NSD2	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	7468	NSD2	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	4488	MSX2	ORPHA:60015
HP:0007385	Aplasia cutis congenita of scalp	4488	MSX2	OMIM:168500
HP:0007385	Aplasia cutis congenita of scalp	60529	ALX4	ORPHA:60015
HP:0007385	Aplasia cutis congenita of scalp	60529	ALX4	OMIM:609597
HP:0007385	Aplasia cutis congenita of scalp	5339	PLEC	ORPHA:158684
HP:0007385	Aplasia cutis congenita of scalp	3691	ITGB4	ORPHA:158684
HP:0007385	Aplasia cutis congenita of scalp	54567	DLL4	OMIM:616589
HP:0007385	Aplasia cutis congenita of scalp	10054	UBA2	OMIM:619959
HP:0007385	Aplasia cutis congenita of scalp	3655	ITGA6	OMIM:619817
HP:0007385	Aplasia cutis congenita of scalp	53834	FGFRL1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	57514	ARHGAP31	OMIM:100300
HP:0000995	Melanocytic nevus	5573	PRKAR1A	ORPHA:950
HP:0000995	Melanocytic nevus	5573	PRKAR1A	OMIM:101800
HP:0000995	Melanocytic nevus	5144	PDE4D	ORPHA:950
HP:0000995	Melanocytic nevus	1139	CHRNA7	ORPHA:199318
HP:0000995	Melanocytic nevus	23512	SUZ12	OMIM:618786
HP:0000995	Melanocytic nevus	6711	SPTBN1	OMIM:619475
HP:0000995	Melanocytic nevus	3845	KRAS	ORPHA:2612
HP:0000995	Melanocytic nevus	3845	KRAS	ORPHA:648
HP:0000995	Melanocytic nevus	3481	IGF2	OMIM:616489
HP:0000995	Melanocytic nevus	2261	FGFR3	OMIM:612247
HP:0000995	Melanocytic nevus	2261	FGFR3	OMIM:162900
HP:0000995	Melanocytic nevus	3257	HPS1	OMIM:203300
HP:0000995	Melanocytic nevus	5781	PTPN11	ORPHA:500
HP:0000995	Melanocytic nevus	5781	PTPN11	ORPHA:648
HP:0000995	Melanocytic nevus	673	BRAF	ORPHA:500
HP:0000995	Melanocytic nevus	5894	RAF1	ORPHA:500
HP:0000995	Melanocytic nevus	5894	RAF1	ORPHA:648
HP:0000995	Melanocytic nevus	5728	PTEN	ORPHA:744
HP:0000995	Melanocytic nevus	5728	PTEN	ORPHA:201
HP:0000995	Melanocytic nevus	207	AKT1	ORPHA:744
HP:0000995	Melanocytic nevus	207	AKT1	ORPHA:201
HP:0000995	Melanocytic nevus	2263	FGFR2	ORPHA:1555
HP:0000995	Melanocytic nevus	2263	FGFR2	ORPHA:207
HP:0000995	Melanocytic nevus	4982	TNFRSF11B	ORPHA:2801
HP:0000995	Melanocytic nevus	8792	TNFRSF11A	ORPHA:2801
HP:0000995	Melanocytic nevus	8626	TP63	ORPHA:978
HP:0000995	Melanocytic nevus	63915	BLOC1S5	OMIM:619172
HP:0000995	Melanocytic nevus	5727	PTCH1	ORPHA:377
HP:0000995	Melanocytic nevus	8643	PTCH2	ORPHA:377
HP:0000995	Melanocytic nevus	51684	SUFU	ORPHA:377
HP:0000995	Melanocytic nevus	4784	NFIX	OMIM:602535
HP:0000995	Melanocytic nevus	2146	EZH2	OMIM:277590
HP:0000995	Melanocytic nevus	22800	RRAS2	ORPHA:648
HP:0000995	Melanocytic nevus	867	CBL	ORPHA:648
HP:0000995	Melanocytic nevus	8216	LZTR1	ORPHA:648
HP:0000995	Melanocytic nevus	6016	RIT1	ORPHA:648
HP:0000995	Melanocytic nevus	6237	RRAS	ORPHA:648
HP:0000995	Melanocytic nevus	22808	MRAS	ORPHA:648
HP:0000995	Melanocytic nevus	200734	SPRED2	ORPHA:648
HP:0000995	Melanocytic nevus	6654	SOS1	ORPHA:648
HP:0000995	Melanocytic nevus	6655	SOS2	ORPHA:648
HP:0000995	Melanocytic nevus	5922	RASA2	ORPHA:648
HP:0000995	Melanocytic nevus	2077	ERF	ORPHA:207
HP:0000995	Melanocytic nevus	60681	FKBP10	ORPHA:1149
HP:0000995	Melanocytic nevus	10483	SEC23B	ORPHA:201
HP:0000995	Melanocytic nevus	6390	SDHB	ORPHA:201
HP:0000995	Melanocytic nevus	6392	SDHD	ORPHA:201
HP:0000995	Melanocytic nevus	6391	SDHC	ORPHA:201
HP:0000995	Melanocytic nevus	205717	USF3	ORPHA:201
HP:0000995	Melanocytic nevus	5290	PIK3CA	ORPHA:201
HP:0000995	Melanocytic nevus	5290	PIK3CA	OMIM:162900
HP:0000995	Melanocytic nevus	100144748	KLLN	ORPHA:201
HP:0000995	Melanocytic nevus	7703	PCGF2	OMIM:618371
HP:0000995	Melanocytic nevus	1281	COL3A1	ORPHA:286
HP:0000995	Melanocytic nevus	8726	EED	OMIM:617561
HP:0000995	Melanocytic nevus	4352	MPL	ORPHA:3319
HP:0000995	Melanocytic nevus	7066	THPO	ORPHA:3319
HP:0000995	Melanocytic nevus	1001	CDH3	ORPHA:1573
HP:0000995	Melanocytic nevus	2200	FBN1	OMIM:616914
HP:0000995	Melanocytic nevus	7299	TYR	ORPHA:79434
HP:0000995	Melanocytic nevus	2068	ERCC2	ORPHA:910
HP:0000995	Melanocytic nevus	7507	XPA	ORPHA:910
HP:0000995	Melanocytic nevus	2071	ERCC3	ORPHA:910
HP:0000995	Melanocytic nevus	7508	XPC	ORPHA:910
HP:0000995	Melanocytic nevus	1643	DDB2	ORPHA:910
HP:0000995	Melanocytic nevus	2072	ERCC4	ORPHA:910
HP:0000995	Melanocytic nevus	2073	ERCC5	ORPHA:910
HP:0000995	Melanocytic nevus	4893	NRAS	OMIM:137550
HP:0000995	Melanocytic nevus	4893	NRAS	ORPHA:626
HP:0000995	Melanocytic nevus	3265	HRAS	OMIM:137550
HP:0000995	Melanocytic nevus	4157	MC1R	ORPHA:626
HP:0000995	Melanocytic nevus	55131	RBM28	ORPHA:157954
HP:0000995	Melanocytic nevus	4948	OCA2	ORPHA:79432
HP:0000996	Facial capillary hemangioma	1717	DHCR7	OMIM:270400
HP:0000996	Facial capillary hemangioma	1717	DHCR7	ORPHA:818
HP:0000996	Facial capillary hemangioma	2050	EPHB4	ORPHA:137667
HP:0000996	Facial capillary hemangioma	5921	RASA1	ORPHA:137667
HP:0000996	Facial capillary hemangioma	80036	TRPM3	OMIM:620224
HP:0000996	Facial capillary hemangioma	9939	RBM8A	OMIM:274000
HP:0000996	Facial capillary hemangioma	157570	ESCO2	OMIM:268300
HP:0000996	Facial capillary hemangioma	157570	ESCO2	ORPHA:3103
HP:0000996	Facial capillary hemangioma	9401	RECQL4	OMIM:218600
HP:0000996	Facial capillary hemangioma	4247	MGAT2	OMIM:212066
HP:0000996	Facial capillary hemangioma	5447	POR	ORPHA:95699
HP:0000996	Facial capillary hemangioma	2737	GLI3	ORPHA:672
HP:0000996	Facial capillary hemangioma	2737	GLI3	OMIM:146510
HP:0000996	Facial capillary hemangioma	10225	CD96	ORPHA:1308
HP:0000997	Axillary freckling	4763	NF1	OMIM:601321
HP:0000997	Axillary freckling	4763	NF1	OMIM:162200
HP:0000997	Axillary freckling	4763	NF1	OMIM:193520
HP:0000997	Axillary freckling	4763	NF1	ORPHA:363700
HP:0000997	Axillary freckling	161742	SPRED1	OMIM:611431
HP:0000997	Axillary freckling	161742	SPRED1	ORPHA:137605
HP:0000997	Axillary freckling	2956	MSH6	OMIM:619097
HP:0000997	Axillary freckling	4292	MLH1	OMIM:276300
HP:0000998	Hypertrichosis	8243	SMC1A	OMIM:300590
HP:0000998	Hypertrichosis	8243	SMC1A	OMIM:301044
HP:0000998	Hypertrichosis	8243	SMC1A	ORPHA:199
HP:0000998	Hypertrichosis	9853	RUSC2	OMIM:617773
HP:0000998	Hypertrichosis	23241	PACS2	OMIM:618067
HP:0000998	Hypertrichosis	26128	KIFBP	OMIM:609460
HP:0000998	Hypertrichosis	6228	RPS23	OMIM:617412
HP:0000998	Hypertrichosis	5885	RAD21	OMIM:614701
HP:0000998	Hypertrichosis	5885	RAD21	ORPHA:199
HP:0000998	Hypertrichosis	7360	UGP2	OMIM:618744
HP:0000998	Hypertrichosis	7109	TRAPPC10	OMIM:620027
HP:0000998	Hypertrichosis	55777	MBD5	ORPHA:228402
HP:0000998	Hypertrichosis	10274	STAG1	ORPHA:502434
HP:0000998	Hypertrichosis	9578	CDC42BPB	OMIM:619841
HP:0000998	Hypertrichosis	170302	ARX	OMIM:300004
HP:0000998	Hypertrichosis	10300	KATNB1	OMIM:616212
HP:0000998	Hypertrichosis	80816	ASXL3	OMIM:615485
HP:0000998	Hypertrichosis	80816	ASXL3	ORPHA:352577
HP:0000998	Hypertrichosis	7552	ZNF711	OMIM:300803
HP:0000998	Hypertrichosis	51506	UFC1	OMIM:618076
HP:0000998	Hypertrichosis	9442	MED27	OMIM:619286
HP:0000998	Hypertrichosis	55690	PACS1	OMIM:615009
HP:0000998	Hypertrichosis	55690	PACS1	ORPHA:329224
HP:0000998	Hypertrichosis	318	NUDT2	OMIM:619844
HP:0000998	Hypertrichosis	2314	FLII	ORPHA:819
HP:0000998	Hypertrichosis	23096	IQSEC2	ORPHA:819
HP:0000998	Hypertrichosis	10743	RAI1	ORPHA:819
HP:0000998	Hypertrichosis	10743	RAI1	OMIM:182290
HP:0000998	Hypertrichosis	10522	DEAF1	ORPHA:819
HP:0000998	Hypertrichosis	5818	NECTIN1	ORPHA:3253
HP:0000998	Hypertrichosis	10978	CLP1	OMIM:615803
HP:0000998	Hypertrichosis	57082	KNL1	OMIM:604321
HP:0000998	Hypertrichosis	26153	KIF26A	OMIM:620156
HP:0000998	Hypertrichosis	83696	TRAPPC9	OMIM:613192
HP:0000998	Hypertrichosis	83696	TRAPPC9	ORPHA:352530
HP:0000998	Hypertrichosis	55870	ASH1L	OMIM:617796
HP:0000998	Hypertrichosis	4853	NOTCH2	OMIM:102500
HP:0000998	Hypertrichosis	4853	NOTCH2	ORPHA:955
HP:0000998	Hypertrichosis	114034	TOE1	OMIM:614969
HP:0000998	Hypertrichosis	2260	FGFR1	ORPHA:3366
HP:0000998	Hypertrichosis	2260	FGFR1	OMIM:190440
HP:0000998	Hypertrichosis	158326	FREM1	ORPHA:3366
HP:0000998	Hypertrichosis	83550	GPR101	ORPHA:963
HP:0000998	Hypertrichosis	9049	AIP	ORPHA:963
HP:0000998	Hypertrichosis	9377	COX5A	OMIM:619064
HP:0000998	Hypertrichosis	6872	TAF1	ORPHA:480907
HP:0000998	Hypertrichosis	6872	TAF1	OMIM:300966
HP:0000998	Hypertrichosis	23347	SMCHD1	OMIM:603457
HP:0000998	Hypertrichosis	10087	CERT1	OMIM:616351
HP:0000998	Hypertrichosis	23036	ZNF292	OMIM:619188
HP:0000998	Hypertrichosis	3340	NDST1	OMIM:616116
HP:0000998	Hypertrichosis	79813	EHMT1	OMIM:610253
HP:0000998	Hypertrichosis	79813	EHMT1	ORPHA:96147
HP:0000998	Hypertrichosis	1009	CDH11	ORPHA:1299
HP:0000998	Hypertrichosis	1009	CDH11	OMIM:211380
HP:0000998	Hypertrichosis	93627	TBCK	ORPHA:488632
HP:0000998	Hypertrichosis	84300	UQCC2	OMIM:615824
HP:0000998	Hypertrichosis	3192	HNRNPU	ORPHA:238769
HP:0000998	Hypertrichosis	253738	EBF3	OMIM:617330
HP:0000998	Hypertrichosis	26038	CHD5	OMIM:619873
HP:0000998	Hypertrichosis	55621	TRMT1	OMIM:618302
HP:0000998	Hypertrichosis	1182	CLCN3	OMIM:619512
HP:0000998	Hypertrichosis	8558	CDK10	OMIM:617694
HP:0000998	Hypertrichosis	55280	CWF19L1	OMIM:616127
HP:0000998	Hypertrichosis	55280	CWF19L1	ORPHA:453521
HP:0000998	Hypertrichosis	27125	AFF4	OMIM:616368
HP:0000998	Hypertrichosis	27125	AFF4	ORPHA:444077
HP:0000998	Hypertrichosis	5727	PTCH1	OMIM:610828
HP:0000998	Hypertrichosis	55027	HEATR3	OMIM:620072
HP:0000998	Hypertrichosis	26137	ZBTB20	OMIM:259050
HP:0000998	Hypertrichosis	26137	ZBTB20	ORPHA:3042
HP:0000998	Hypertrichosis	54828	BCAS3	OMIM:619641
HP:0000998	Hypertrichosis	4286	MITF	OMIM:193510
HP:0000998	Hypertrichosis	4286	MITF	ORPHA:897
HP:0000998	Hypertrichosis	56098	PCDHGC4	OMIM:619880
HP:0000998	Hypertrichosis	7358	UGDH	OMIM:618792
HP:0000998	Hypertrichosis	11128	POLR3A	ORPHA:3455
HP:0000998	Hypertrichosis	2556	GABRA3	OMIM:301091
HP:0000998	Hypertrichosis	10430	TMEM147	OMIM:620075
HP:0000998	Hypertrichosis	51322	WAC	ORPHA:284169
HP:0000998	Hypertrichosis	51322	WAC	OMIM:616708
HP:0000998	Hypertrichosis	51322	WAC	ORPHA:466950
HP:0000998	Hypertrichosis	7030	TFE3	OMIM:301066
HP:0000998	Hypertrichosis	23162	MAPK8IP3	OMIM:618443
HP:0000998	Hypertrichosis	5077	PAX3	OMIM:193500
HP:0000998	Hypertrichosis	5077	PAX3	OMIM:148820
HP:0000998	Hypertrichosis	5077	PAX3	ORPHA:894
HP:0000998	Hypertrichosis	57479	PRR12	OMIM:619539
HP:0000998	Hypertrichosis	6611	SMS	OMIM:309583
HP:0000998	Hypertrichosis	6611	SMS	ORPHA:3063
HP:0000998	Hypertrichosis	25836	NIPBL	OMIM:122470
HP:0000998	Hypertrichosis	25836	NIPBL	ORPHA:199
HP:0000998	Hypertrichosis	23219	FBXO28	OMIM:619777
HP:0000998	Hypertrichosis	79791	FBXO31	OMIM:615979
HP:0000998	Hypertrichosis	85440	DOCK7	OMIM:615859
HP:0000998	Hypertrichosis	85440	DOCK7	ORPHA:411986
HP:0000998	Hypertrichosis	22856	CHSY1	OMIM:605282
HP:0000998	Hypertrichosis	6509	SLC1A4	ORPHA:447997
HP:0000998	Hypertrichosis	7546	ZIC2	OMIM:609637
HP:0000998	Hypertrichosis	55023	PHIP	ORPHA:589905
HP:0000998	Hypertrichosis	55023	PHIP	OMIM:617991
HP:0000998	Hypertrichosis	29123	ANKRD11	OMIM:148050
HP:0000998	Hypertrichosis	29123	ANKRD11	ORPHA:2332
HP:0000998	Hypertrichosis	2702	GJA5	OMIM:612474
HP:0000998	Hypertrichosis	2703	GJA8	OMIM:612474
HP:0000998	Hypertrichosis	6878	TAF6	OMIM:617126
HP:0000998	Hypertrichosis	22907	DHX30	OMIM:617804
HP:0000998	Hypertrichosis	1642	DDB1	OMIM:619426
HP:0000998	Hypertrichosis	81603	TRIM8	OMIM:619428
HP:0000998	Hypertrichosis	6888	TALDO1	OMIM:606003
HP:0000998	Hypertrichosis	3720	JARID2	OMIM:620098
HP:0000998	Hypertrichosis	9949	AMMECR1	OMIM:300990
HP:0000998	Hypertrichosis	11160	ERLIN2	ORPHA:280384
HP:0000998	Hypertrichosis	11160	ERLIN2	ORPHA:209951
HP:0000998	Hypertrichosis	6448	SGSH	OMIM:252900
HP:0000998	Hypertrichosis	23013	SPEN	OMIM:619312
HP:0000998	Hypertrichosis	8473	OGT	OMIM:300997
HP:0000998	Hypertrichosis	51621	KLF13	OMIM:612001
HP:0000998	Hypertrichosis	1139	CHRNA7	OMIM:612001
HP:0000998	Hypertrichosis	5648	MASP1	OMIM:257920
HP:0000998	Hypertrichosis	55628	ZNF407	OMIM:619557
HP:0000998	Hypertrichosis	55869	HDAC8	OMIM:300882
HP:0000998	Hypertrichosis	55869	HDAC8	ORPHA:199
HP:0000998	Hypertrichosis	29998	BICRA	OMIM:619325
HP:0000998	Hypertrichosis	113179	ADAT3	ORPHA:363528
HP:0000998	Hypertrichosis	55209	SETD5	OMIM:615761
HP:0000998	Hypertrichosis	23030	KDM4B	OMIM:619320
HP:0000998	Hypertrichosis	3313	HSPA9	OMIM:616854
HP:0000998	Hypertrichosis	998	CDC42	OMIM:616737
HP:0000998	Hypertrichosis	998	CDC42	ORPHA:487796
HP:0000998	Hypertrichosis	4081	MAB21L1	OMIM:618479
HP:0000998	Hypertrichosis	3097	HIVEP2	OMIM:616977
HP:0000998	Hypertrichosis	10982	MAPRE2	OMIM:616734
HP:0000998	Hypertrichosis	1908	EDN3	ORPHA:897
HP:0000998	Hypertrichosis	1910	EDNRB	ORPHA:897
HP:0000998	Hypertrichosis	6663	SOX10	ORPHA:897
HP:0000998	Hypertrichosis	9126	SMC3	OMIM:610759
HP:0000998	Hypertrichosis	9126	SMC3	ORPHA:199
HP:0000998	Hypertrichosis	4131	MAP1B	OMIM:618918
HP:0000998	Hypertrichosis	64131	XYLT1	OMIM:615777
HP:0000998	Hypertrichosis	64131	XYLT1	ORPHA:370930
HP:0000998	Hypertrichosis	9969	MED13	OMIM:618009
HP:0000998	Hypertrichosis	1000	CDH2	OMIM:618929
HP:0000998	Hypertrichosis	2248	FGF3	ORPHA:90024
HP:0000998	Hypertrichosis	6792	CDKL5	ORPHA:505652
HP:0000998	Hypertrichosis	8091	HMGA2	ORPHA:94063
HP:0000998	Hypertrichosis	23592	LEMD3	ORPHA:94063
HP:0000998	Hypertrichosis	5718	PSMD12	ORPHA:529962
HP:0000998	Hypertrichosis	2186	BPTF	ORPHA:529962
HP:0000998	Hypertrichosis	80185	TTI2	OMIM:615541
HP:0000998	Hypertrichosis	80185	TTI2	ORPHA:391307
HP:0000998	Hypertrichosis	23476	BRD4	ORPHA:199
HP:0000998	Hypertrichosis	10771	ZMYND11	OMIM:616083
HP:0000998	Hypertrichosis	6711	SPTBN1	OMIM:619475
HP:0000998	Hypertrichosis	5702	PSMC3	OMIM:619354
HP:0000998	Hypertrichosis	54361	WNT4	ORPHA:247768
HP:0000998	Hypertrichosis	50937	CDON	OMIM:614226
HP:0000998	Hypertrichosis	8405	SPOP	OMIM:618828
HP:0000998	Hypertrichosis	1457	CSNK2A1	OMIM:617062
HP:0000998	Hypertrichosis	7204	TRIO	OMIM:617061
HP:0000998	Hypertrichosis	7204	TRIO	ORPHA:476126
HP:0000998	Hypertrichosis	23556	PIGN	ORPHA:280633
HP:0000998	Hypertrichosis	55617	TASP1	OMIM:618950
HP:0000998	Hypertrichosis	9508	ADAMTS3	OMIM:618154
HP:0000998	Hypertrichosis	8450	CUL4B	ORPHA:85293
HP:0000998	Hypertrichosis	93587	TRMT10A	ORPHA:391408
HP:0000998	Hypertrichosis	84919	PPP1R15B	ORPHA:391408
HP:0000998	Hypertrichosis	2799	GNS	OMIM:252940
HP:0000998	Hypertrichosis	6591	SNAI2	ORPHA:2884
HP:0000998	Hypertrichosis	3815	KIT	ORPHA:2884
HP:0000998	Hypertrichosis	2273	FHL1	OMIM:300280
HP:0000998	Hypertrichosis	403	ARL3	OMIM:618161
HP:0000998	Hypertrichosis	6904	TBCD	OMIM:617193
HP:0000998	Hypertrichosis	54888	NSUN2	OMIM:611091
HP:0000998	Hypertrichosis	5879	RAC1	OMIM:617751
HP:0000998	Hypertrichosis	10020	GNE	OMIM:269921
HP:0000998	Hypertrichosis	650	BMP2	OMIM:617877
HP:0000998	Hypertrichosis	23133	PHF8	ORPHA:85287
HP:0000998	Hypertrichosis	23133	PHF8	OMIM:300263
HP:0000998	Hypertrichosis	54187	NANS	OMIM:610442
HP:0000998	Hypertrichosis	3778	KCNMA1	OMIM:618729
HP:0000998	Hypertrichosis	64802	NMNAT1	OMIM:619260
HP:0000998	Hypertrichosis	11141	IL1RAPL1	OMIM:300143
HP:0000998	Hypertrichosis	284361	EMC10	OMIM:619264
HP:0000998	Hypertrichosis	10844	TUBGCP2	OMIM:618737
HP:0000998	Hypertrichosis	4669	NAGLU	OMIM:252920
HP:0000998	Hypertrichosis	3480	IGF1R	OMIM:270450
HP:0000998	Hypertrichosis	22827	PUF60	ORPHA:508498
HP:0000998	Hypertrichosis	91949	COG7	OMIM:608779
HP:0000998	Hypertrichosis	4558	MT-TF	ORPHA:550
HP:0000998	Hypertrichosis	4572	MT-TQ	ORPHA:550
HP:0000998	Hypertrichosis	4512	MT-CO1	ORPHA:550
HP:0000998	Hypertrichosis	4513	MT-CO2	ORPHA:550
HP:0000998	Hypertrichosis	4514	MT-CO3	ORPHA:550
HP:0000998	Hypertrichosis	4578	MT-TW	ORPHA:550
HP:0000998	Hypertrichosis	4540	MT-ND5	ORPHA:550
HP:0000998	Hypertrichosis	4541	MT-ND6	ORPHA:550
HP:0000998	Hypertrichosis	4535	MT-ND1	ORPHA:550
HP:0000998	Hypertrichosis	4538	MT-ND4	ORPHA:550
HP:0000998	Hypertrichosis	4567	MT-TL1	ORPHA:550
HP:0000998	Hypertrichosis	4574	MT-TS1	ORPHA:550
HP:0000998	Hypertrichosis	4575	MT-TS2	ORPHA:550
HP:0000998	Hypertrichosis	4564	MT-TH	ORPHA:550
HP:0000998	Hypertrichosis	128869	PIGU	OMIM:618590
HP:0000998	Hypertrichosis	4054	LTBP3	OMIM:601216
HP:0000998	Hypertrichosis	79644	SRD5A3	OMIM:612379
HP:0000998	Hypertrichosis	79644	SRD5A3	ORPHA:324737
HP:0000998	Hypertrichosis	4784	NFIX	OMIM:602535
HP:0000998	Hypertrichosis	65082	VPS33A	ORPHA:505248
HP:0000998	Hypertrichosis	9630	GNA14	ORPHA:1063
HP:0000998	Hypertrichosis	55967	NDUFA12	OMIM:618244
HP:0000998	Hypertrichosis	55967	NDUFA12	ORPHA:255241
HP:0000998	Hypertrichosis	57492	ARID1B	OMIM:135900
HP:0000998	Hypertrichosis	57492	ARID1B	ORPHA:1465
HP:0000998	Hypertrichosis	22930	RAB3GAP1	OMIM:600118
HP:0000998	Hypertrichosis	4125	MAN2B1	OMIM:248500
HP:0000998	Hypertrichosis	6601	SMARCC2	OMIM:618362
HP:0000998	Hypertrichosis	6601	SMARCC2	ORPHA:1465
HP:0000998	Hypertrichosis	3899	AFF3	OMIM:619297
HP:0000998	Hypertrichosis	3643	INSR	OMIM:246200
HP:0000998	Hypertrichosis	3643	INSR	OMIM:262190
HP:0000998	Hypertrichosis	3643	INSR	ORPHA:508
HP:0000998	Hypertrichosis	3643	INSR	ORPHA:769
HP:0000998	Hypertrichosis	5119	CHMP1A	OMIM:614961
HP:0000998	Hypertrichosis	6597	SMARCA4	ORPHA:1465
HP:0000998	Hypertrichosis	6597	SMARCA4	OMIM:614609
HP:0000998	Hypertrichosis	6598	SMARCB1	ORPHA:1465
HP:0000998	Hypertrichosis	6598	SMARCB1	OMIM:614608
HP:0000998	Hypertrichosis	6659	SOX4	ORPHA:1465
HP:0000998	Hypertrichosis	8289	ARID1A	ORPHA:1465
HP:0000998	Hypertrichosis	5977	DPF2	ORPHA:1465
HP:0000998	Hypertrichosis	6602	SMARCD1	ORPHA:1465
HP:0000998	Hypertrichosis	196528	ARID2	ORPHA:1465
HP:0000998	Hypertrichosis	6605	SMARCE1	ORPHA:1465
HP:0000998	Hypertrichosis	6664	SOX11	ORPHA:1465
HP:0000998	Hypertrichosis	6664	SOX11	OMIM:615866
HP:0000998	Hypertrichosis	3858	KRT10	OMIM:609165
HP:0000998	Hypertrichosis	84133	ZNRF3	ORPHA:1501
HP:0000998	Hypertrichosis	7157	TP53	ORPHA:1501
HP:0000998	Hypertrichosis	5573	PRKAR1A	ORPHA:1501
HP:0000998	Hypertrichosis	1499	CTNNB1	ORPHA:1501
HP:0000998	Hypertrichosis	1029	CDKN2A	ORPHA:1501
HP:0000998	Hypertrichosis	7015	TERT	ORPHA:1501
HP:0000998	Hypertrichosis	171023	ASXL1	ORPHA:97297
HP:0000998	Hypertrichosis	171023	ASXL1	OMIM:605039
HP:0000998	Hypertrichosis	283987	HID1	OMIM:619983
HP:0000998	Hypertrichosis	633	BGN	OMIM:300989
HP:0000998	Hypertrichosis	23028	KDM1A	ORPHA:477993
HP:0000998	Hypertrichosis	57231	SNX14	OMIM:616354
HP:0000998	Hypertrichosis	55148	UBR7	OMIM:619189
HP:0000998	Hypertrichosis	51729	WBP11	OMIM:619227
HP:0000998	Hypertrichosis	5498	PPOX	ORPHA:79473
HP:0000998	Hypertrichosis	1075	CTSC	ORPHA:678
HP:0000998	Hypertrichosis	50801	KCNK4	OMIM:618381
HP:0000998	Hypertrichosis	1798	DPAGT1	ORPHA:86309
HP:0000998	Hypertrichosis	10664	CTCF	ORPHA:363611
HP:0000998	Hypertrichosis	9851	KIAA0753	OMIM:619479
HP:0000998	Hypertrichosis	23512	SUZ12	OMIM:618786
HP:0000998	Hypertrichosis	3572	IL6ST	OMIM:619750
HP:0000998	Hypertrichosis	22931	RAB18	OMIM:614222
HP:0000998	Hypertrichosis	29957	SLC25A24	OMIM:612289
HP:0000998	Hypertrichosis	117581	TWIST2	OMIM:209885
HP:0000998	Hypertrichosis	8239	USP9X	ORPHA:480880
HP:0000998	Hypertrichosis	8239	USP9X	OMIM:300968
HP:0000998	Hypertrichosis	5593	PRKG2	OMIM:619636
HP:0000998	Hypertrichosis	150468	CKAP2L	OMIM:272440
HP:0000998	Hypertrichosis	54499	TMCO1	OMIM:213980
HP:0000998	Hypertrichosis	5293	PIK3CD	ORPHA:221139
HP:0000998	Hypertrichosis	90417	KNSTRN	ORPHA:221139
HP:0000998	Hypertrichosis	25915	NDUFAF3	ORPHA:70474
HP:0000998	Hypertrichosis	4714	NDUFB8	ORPHA:70474
HP:0000998	Hypertrichosis	4720	NDUFS2	ORPHA:70474
HP:0000998	Hypertrichosis	4720	NDUFS2	ORPHA:255241
HP:0000998	Hypertrichosis	9997	SCO2	ORPHA:70474
HP:0000998	Hypertrichosis	6834	SURF1	ORPHA:70474
HP:0000998	Hypertrichosis	6834	SURF1	ORPHA:255241
HP:0000998	Hypertrichosis	79796	ALG9	ORPHA:79328
HP:0000998	Hypertrichosis	8314	BAP1	OMIM:619762
HP:0000998	Hypertrichosis	374879	ZNF699	OMIM:619488
HP:0000998	Hypertrichosis	5594	MAPK1	OMIM:619087
HP:0000998	Hypertrichosis	10293	TRAIP	OMIM:616777
HP:0000998	Hypertrichosis	641	BLM	OMIM:210900
HP:0000998	Hypertrichosis	9772	TMEM94	OMIM:618316
HP:0000998	Hypertrichosis	118924	FRA10AC1	OMIM:620113
HP:0000998	Hypertrichosis	55252	ASXL2	OMIM:617190
HP:0000998	Hypertrichosis	6389	SDHA	ORPHA:255241
HP:0000998	Hypertrichosis	80704	SLC19A3	ORPHA:255241
HP:0000998	Hypertrichosis	91942	NDUFAF2	ORPHA:255241
HP:0000998	Hypertrichosis	4723	NDUFV1	ORPHA:255241
HP:0000998	Hypertrichosis	55572	FOXRED1	ORPHA:255241
HP:0000998	Hypertrichosis	4729	NDUFV2	ORPHA:255241
HP:0000998	Hypertrichosis	51204	TACO1	ORPHA:255241
HP:0000998	Hypertrichosis	4724	NDUFS4	ORPHA:255241
HP:0000998	Hypertrichosis	4728	NDUFS8	ORPHA:255241
HP:0000998	Hypertrichosis	137682	NDUFAF6	ORPHA:255241
HP:0000998	Hypertrichosis	4722	NDUFS3	ORPHA:255241
HP:0000998	Hypertrichosis	79133	NDUFAF5	ORPHA:255241
HP:0000998	Hypertrichosis	5160	PDHA1	ORPHA:255241
HP:0000998	Hypertrichosis	100131801	PET100	ORPHA:255241
HP:0000998	Hypertrichosis	1355	COX15	ORPHA:255241
HP:0000998	Hypertrichosis	1892	ECHS1	ORPHA:255241
HP:0000998	Hypertrichosis	123263	MTFMT	ORPHA:255241
HP:0000998	Hypertrichosis	51079	NDUFA13	ORPHA:255241
HP:0000998	Hypertrichosis	374291	NDUFS7	ORPHA:255241
HP:0000998	Hypertrichosis	4705	NDUFA10	ORPHA:255241
HP:0000998	Hypertrichosis	51601	LIPT1	ORPHA:255241
HP:0000998	Hypertrichosis	4719	NDUFS1	ORPHA:255241
HP:0000998	Hypertrichosis	4695	NDUFA2	ORPHA:255241
HP:0000998	Hypertrichosis	4697	NDUFA4	ORPHA:255241
HP:0000998	Hypertrichosis	4704	NDUFA9	ORPHA:255241
HP:0000998	Hypertrichosis	7390	UROS	OMIM:263700
HP:0000998	Hypertrichosis	54941	RNF125	OMIM:616260
HP:0000998	Hypertrichosis	3423	IDS	OMIM:309900
HP:0000998	Hypertrichosis	2720	GLB1	OMIM:230500
HP:0000998	Hypertrichosis	138050	HGSNAT	OMIM:252930
HP:0000998	Hypertrichosis	5468	PPARG	ORPHA:528
HP:0000998	Hypertrichosis	10555	AGPAT2	ORPHA:528
HP:0000998	Hypertrichosis	284119	CAVIN1	ORPHA:528
HP:0000998	Hypertrichosis	26580	BSCL2	ORPHA:528
HP:0000998	Hypertrichosis	2353	FOS	ORPHA:528
HP:0000998	Hypertrichosis	857	CAV1	ORPHA:528
HP:0000998	Hypertrichosis	11011	TLK2	OMIM:618050
HP:0000998	Hypertrichosis	6595	SMARCA2	OMIM:601358
HP:0000998	Hypertrichosis	116150	NUS1	OMIM:617082
HP:0000998	Hypertrichosis	127534	GJB4	OMIM:617524
HP:0000998	Hypertrichosis	55315	SLC29A3	ORPHA:168569
HP:0000998	Hypertrichosis	2719	GPC3	OMIM:312870
HP:0000998	Hypertrichosis	2239	GPC4	OMIM:312870
HP:0000998	Hypertrichosis	137492	VPS37A	OMIM:614898
HP:0000998	Hypertrichosis	5696	PSMB8	OMIM:256040
HP:0000998	Hypertrichosis	145173	B3GLCT	OMIM:261540
HP:0000998	Hypertrichosis	1387	CREBBP	OMIM:180849
HP:0000998	Hypertrichosis	2033	EP300	OMIM:180849
HP:0000998	Hypertrichosis	7389	UROD	OMIM:176100
HP:0000998	Hypertrichosis	7389	UROD	ORPHA:95159
HP:0000998	Hypertrichosis	3077	HFE	OMIM:176100
HP:0000998	Hypertrichosis	2623	GATA1	ORPHA:79277
HP:0000998	Hypertrichosis	23461	ABCA5	OMIM:135400
HP:0000998	Hypertrichosis	10060	ABCC9	OMIM:239850
HP:0000998	Hypertrichosis	10847	SRCAP	OMIM:136140
HP:0000998	Hypertrichosis	526	ATP6V1B2	ORPHA:3473
HP:0000998	Hypertrichosis	3756	KCNH1	ORPHA:3473
HP:0000998	Hypertrichosis	3782	KCNN3	ORPHA:3473
HP:0000998	Hypertrichosis	26040	SETBP1	ORPHA:798
HP:0000998	Hypertrichosis	4758	NEU1	ORPHA:93399
HP:0000998	Hypertrichosis	4758	NEU1	ORPHA:93400
HP:0000998	Hypertrichosis	4297	KMT2A	OMIM:605130
HP:0000998	Hypertrichosis	283209	PGM2L1	OMIM:620191
HP:0000998	Hypertrichosis	55627	SMPD4	OMIM:618622
HP:0000998	Hypertrichosis	7319	UBE2A	ORPHA:163956
HP:0000998	Hypertrichosis	2783	GNB2	OMIM:619503
HP:0000998	Hypertrichosis	57003	CCDC47	OMIM:618268
HP:0000999	Pyoderma	3909	LAMA3	ORPHA:79404
HP:0000999	Pyoderma	3918	LAMC2	ORPHA:79404
HP:0000999	Pyoderma	3914	LAMB3	ORPHA:79404
HP:0000999	Pyoderma	3587	IL10RA	OMIM:613148
HP:0000999	Pyoderma	695	BTK	OMIM:300755
HP:0000999	Pyoderma	695	BTK	OMIM:307200
HP:0003400	Basal lamina onion bulb formation	79628	SH3TC2	OMIM:601596
HP:0003400	Basal lamina onion bulb formation	57716	PRX	OMIM:614895
HP:0003400	Basal lamina onion bulb formation	54332	GDAP1	OMIM:214400
HP:0003401	Paresthesia	26191	PTPN22	ORPHA:397
HP:0003401	Paresthesia	3106	HLA-B	ORPHA:397
HP:0003401	Paresthesia	3106	HLA-B	ORPHA:117
HP:0003401	Paresthesia	3123	HLA-DRB1	ORPHA:397
HP:0003401	Paresthesia	3123	HLA-DRB1	OMIM:126200
HP:0003401	Paresthesia	8974	P4HA2	ORPHA:397
HP:0003401	Paresthesia	4352	MPL	ORPHA:71493
HP:0003401	Paresthesia	4352	MPL	ORPHA:3318
HP:0003401	Paresthesia	7066	THPO	ORPHA:71493
HP:0003401	Paresthesia	3717	JAK2	ORPHA:71493
HP:0003401	Paresthesia	3717	JAK2	ORPHA:3318
HP:0003401	Paresthesia	6399	TRAPPC2	ORPHA:93284
HP:0003401	Paresthesia	3094	HINT1	ORPHA:324442
HP:0003401	Paresthesia	80207	OPA3	ORPHA:67036
HP:0003401	Paresthesia	8029	CUBN	OMIM:261100
HP:0003401	Paresthesia	2767	GNA11	ORPHA:428
HP:0003401	Paresthesia	2767	GNA11	OMIM:615361
HP:0003401	Paresthesia	846	CASR	ORPHA:428
HP:0003401	Paresthesia	846	CASR	OMIM:601198
HP:0003401	Paresthesia	2778	GNAS	ORPHA:94089
HP:0003401	Paresthesia	2778	GNAS	ORPHA:562
HP:0003401	Paresthesia	2778	GNAS	ORPHA:79443
HP:0003401	Paresthesia	2778	GNAS	ORPHA:79444
HP:0003401	Paresthesia	8675	STX16	ORPHA:94089
HP:0003401	Paresthesia	773	CACNA1A	OMIM:108500
HP:0003401	Paresthesia	773	CACNA1A	ORPHA:569
HP:0003401	Paresthesia	4072	EPCAM	ORPHA:144
HP:0003401	Paresthesia	4292	MLH1	ORPHA:144
HP:0003401	Paresthesia	5395	PMS2	ORPHA:144
HP:0003401	Paresthesia	27030	MLH3	ORPHA:144
HP:0003401	Paresthesia	22909	FAN1	ORPHA:144
HP:0003401	Paresthesia	7048	TGFBR2	ORPHA:144
HP:0003401	Paresthesia	3845	KRAS	ORPHA:144
HP:0003401	Paresthesia	5290	PIK3CA	ORPHA:144
HP:0003401	Paresthesia	2956	MSH6	ORPHA:144
HP:0003401	Paresthesia	5378	PMS1	ORPHA:144
HP:0003401	Paresthesia	4436	MSH2	ORPHA:144
HP:0003401	Paresthesia	7084	TK2	ORPHA:254886
HP:0003401	Paresthesia	5428	POLG	ORPHA:254886
HP:0003401	Paresthesia	5428	POLG	ORPHA:298
HP:0003401	Paresthesia	6335	SCN9A	OMIM:243000
HP:0003401	Paresthesia	64218	SEMA4A	ORPHA:440437
HP:0003401	Paresthesia	657	BMPR1A	ORPHA:440437
HP:0003401	Paresthesia	6224	RPS20	ORPHA:440437
HP:0003401	Paresthesia	10560	SLC19A2	ORPHA:49827
HP:0003401	Paresthesia	710	SERPING1	ORPHA:100050
HP:0003401	Paresthesia	7132	TNFRSF1A	ORPHA:32960
HP:0003401	Paresthesia	1890	TYMP	ORPHA:298
HP:0003401	Paresthesia	3980	LIG3	ORPHA:298
HP:0003401	Paresthesia	50484	RRM2B	ORPHA:298
HP:0003401	Paresthesia	351	APP	ORPHA:324703
HP:0003401	Paresthesia	351	APP	OMIM:605714
HP:0003401	Paresthesia	9630	GNA14	ORPHA:1063
HP:0003401	Paresthesia	22954	TRIM32	OMIM:254110
HP:0003401	Paresthesia	64856	VWA1	OMIM:619216
HP:0003401	Paresthesia	9927	MFN2	ORPHA:2398
HP:0003401	Paresthesia	9927	MFN2	ORPHA:99947
HP:0003401	Paresthesia	6513	SLC2A1	OMIM:601042
HP:0003401	Paresthesia	6513	SLC2A1	ORPHA:98811
HP:0003401	Paresthesia	6513	SLC2A1	ORPHA:53583
HP:0003401	Paresthesia	83550	GPR101	ORPHA:963
HP:0003401	Paresthesia	9049	AIP	ORPHA:963
HP:0003401	Paresthesia	3852	KRT5	ORPHA:79400
HP:0003401	Paresthesia	3861	KRT14	ORPHA:79400
HP:0003401	Paresthesia	112476	PRRT2	ORPHA:569
HP:0003401	Paresthesia	112476	PRRT2	ORPHA:98811
HP:0003401	Paresthesia	6323	SCN1A	ORPHA:569
HP:0003401	Paresthesia	477	ATP1A2	ORPHA:569
HP:0003401	Paresthesia	8131	NPRL3	ORPHA:98820
HP:0003401	Paresthesia	10641	NPRL2	ORPHA:98820
HP:0003401	Paresthesia	9681	DEPDC5	ORPHA:98820
HP:0003401	Paresthesia	7389	UROD	ORPHA:95159
HP:0003401	Paresthesia	2632	GBE1	OMIM:263570
HP:0003401	Paresthesia	4524	MTHFR	OMIM:236250
HP:0003401	Paresthesia	6557	SLC12A1	OMIM:601678
HP:0003401	Paresthesia	6329	SCN4A	ORPHA:682
HP:0003401	Paresthesia	3758	KCNJ1	OMIM:241200
HP:0003401	Paresthesia	4747	NEFL	ORPHA:101085
HP:0003401	Paresthesia	5376	PMP22	ORPHA:101081
HP:0003401	Paresthesia	5376	PMP22	ORPHA:640
HP:0003401	Paresthesia	5621	PRNP	ORPHA:356
HP:0003401	Paresthesia	595	CCND1	ORPHA:29073
HP:0003401	Paresthesia	9150	CTDP1	ORPHA:48431
HP:0003401	Paresthesia	7415	VCP	ORPHA:435387
HP:0003401	Paresthesia	4221	MEN1	ORPHA:97279
HP:0003401	Paresthesia	7528	YY1	ORPHA:97279
HP:0003401	Paresthesia	4669	NAGLU	OMIM:616491
HP:0003401	Paresthesia	3145	HMBS	OMIM:176000
HP:0003401	Paresthesia	9516	LITAF	OMIM:601098
HP:0003401	Paresthesia	51062	ATL1	OMIM:613708
HP:0003401	Paresthesia	2717	GLA	OMIM:301500
HP:0003401	Paresthesia	2694	CBLIF	OMIM:261000
HP:0003401	Paresthesia	3977	LIFR	ORPHA:3206
HP:0003401	Paresthesia	210	ALAD	OMIM:612740
HP:0003401	Paresthesia	81846	SBF2	ORPHA:99956
HP:0003401	Paresthesia	27286	SRPX2	ORPHA:1945
HP:0003401	Paresthesia	2903	GRIN2A	ORPHA:1945
HP:0003401	Paresthesia	2566	GABRG2	ORPHA:1945
HP:0003401	Paresthesia	57410	SCYL1	ORPHA:466794
HP:0003401	Paresthesia	57410	SCYL1	OMIM:616719
HP:0003401	Paresthesia	3798	KIF5A	ORPHA:100991
HP:0003401	Paresthesia	84842	HPDL	OMIM:619027
HP:0003401	Paresthesia	10019	SH2B3	ORPHA:3318
HP:0003401	Paresthesia	811	CALR	ORPHA:3318
HP:0003401	Paresthesia	7157	TP53	ORPHA:3318
HP:0003401	Paresthesia	54790	TET2	ORPHA:3318
HP:0003401	Paresthesia	10801	SEPTIN9	ORPHA:2901
HP:0003401	Paresthesia	6559	SLC12A3	OMIM:263800
HP:0003401	Paresthesia	6559	SLC12A3	ORPHA:358
HP:0003401	Paresthesia	7390	UROS	ORPHA:79277
HP:0003401	Paresthesia	2623	GATA1	ORPHA:79277
HP:0003401	Paresthesia	1188	CLCNKB	ORPHA:358
HP:0003401	Paresthesia	6310	ATXN1	OMIM:164400
HP:0003401	Paresthesia	4668	NAGA	ORPHA:79279
HP:0003401	Paresthesia	3119	HLA-DQB1	OMIM:126200
HP:0003401	Paresthesia	5133	PDCD1	OMIM:126200
HP:0003401	Paresthesia	149233	IL23R	ORPHA:117
HP:0003401	Paresthesia	6775	STAT4	ORPHA:117
HP:0003401	Paresthesia	3586	IL10	ORPHA:117
HP:0003401	Paresthesia	4210	MEFV	ORPHA:117
HP:0003401	Paresthesia	1230	CCR1	ORPHA:117
HP:0003401	Paresthesia	355	FAS	ORPHA:117
HP:0003401	Paresthesia	3592	IL12A	ORPHA:117
HP:0003401	Paresthesia	101928376	IL12A-AS1	ORPHA:117
HP:0003401	Paresthesia	7099	TLR4	ORPHA:117
HP:0003401	Paresthesia	3459	IFNGR1	ORPHA:117
HP:0003401	Paresthesia	720	C4A	ORPHA:117
HP:0003401	Paresthesia	337867	UBAC2	ORPHA:117
HP:0003401	Paresthesia	51752	ERAP1	ORPHA:117
HP:0003401	Paresthesia	8302	KLRC4	ORPHA:117
HP:0003401	Paresthesia	1836	SLC26A2	ORPHA:93307
HP:0003401	Paresthesia	4010	LMX1B	ORPHA:2614
HP:0003401	Paresthesia	3074	HEXB	ORPHA:309162
HP:0003401	Paresthesia	2581	GALC	ORPHA:206443
HP:0003401	Paresthesia	2581	GALC	ORPHA:206448
HP:0003401	Paresthesia	9517	SPTLC2	OMIM:613640
HP:0003401	Paresthesia	1311	COMP	OMIM:619161
HP:0003402	Decreased miniature endplate potentials	1103	CHAT	OMIM:254210
HP:0003402	Decreased miniature endplate potentials	1145	CHRNE	OMIM:605809
HP:0003402	Decreased miniature endplate potentials	1145	CHRNE	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	1134	CHRNA1	OMIM:608930
HP:0003402	Decreased miniature endplate potentials	1134	CHRNA1	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	6329	SCN4A	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	4038	LRP4	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	1305	COL13A1	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	1140	CHRNB1	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	1144	CHRND	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	1144	CHRND	OMIM:616321
HP:0003402	Decreased miniature endplate potentials	4593	MUSK	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	5913	RAPSN	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	375790	AGRN	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	221264	AK9	ORPHA:98913
HP:0003402	Decreased miniature endplate potentials	285489	DOK7	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	274	BIN1	ORPHA:169186
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	10290	SPEG	ORPHA:169186
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	6261	RYR1	ORPHA:169186
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	7273	TTN	ORPHA:169186
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2673	GFPT1	OMIM:608931
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2673	GFPT1	OMIM:610542
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2673	GFPT1	ORPHA:353327
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1145	CHRNE	OMIM:608931
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1145	CHRNE	OMIM:605809
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1145	CHRNE	OMIM:616324
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1145	CHRNE	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	199857	ALG14	OMIM:619036
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	199857	ALG14	OMIM:616227
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	199857	ALG14	ORPHA:353327
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	6843	VAMP1	OMIM:618323
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1144	CHRND	OMIM:616321
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1144	CHRND	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	5913	RAPSN	OMIM:616326
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	5913	RAPSN	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4038	LRP4	OMIM:616304
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4038	LRP4	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1103	CHAT	OMIM:254210
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4593	MUSK	OMIM:616325
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4593	MUSK	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1305	COL13A1	OMIM:616720
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1305	COL13A1	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	85365	ALG2	OMIM:616228
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	85365	ALG2	ORPHA:353327
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1134	CHRNA1	OMIM:608930
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1134	CHRNA1	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	29925	GMPPB	ORPHA:363623
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	29925	GMPPB	ORPHA:353327
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	6329	SCN4A	OMIM:614198
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	6329	SCN4A	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	127833	SYT2	OMIM:619461
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	375790	AGRN	OMIM:615120
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	375790	AGRN	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1140	CHRNB1	OMIM:616314
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1140	CHRNB1	OMIM:616313
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1140	CHRNB1	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1798	DPAGT1	OMIM:614750
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1798	DPAGT1	ORPHA:353327
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	8292	COLQ	ORPHA:98915
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	8292	COLQ	OMIM:603034
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	3913	LAMB2	ORPHA:98915
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4632	MYL1	OMIM:618414
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	221264	AK9	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	285489	DOK7	ORPHA:98913
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	100996717	NOTCH2NLC	OMIM:603472
HP:0007021	Pain insensitivity	9759	HDAC4	OMIM:600430
HP:0007021	Pain insensitivity	253738	EBF3	OMIM:617330
HP:0007021	Pain insensitivity	55768	NGLY1	OMIM:615273
HP:0007021	Pain insensitivity	8242	KDM5C	OMIM:300534
HP:0007021	Pain insensitivity	2892	GRIA3	ORPHA:364028
HP:0007021	Pain insensitivity	8218	CLTCL1	ORPHA:453510
HP:0007021	Pain insensitivity	55699	IARS2	OMIM:616007
HP:0007021	Pain insensitivity	85446	ZFHX2	OMIM:147430
HP:0007021	Pain insensitivity	7204	TRIO	OMIM:618825
HP:0007021	Pain insensitivity	7204	TRIO	OMIM:617061
HP:0007021	Pain insensitivity	4803	NGF	ORPHA:64752
HP:0007021	Pain insensitivity	4803	NGF	OMIM:608654
HP:0007021	Pain insensitivity	4914	NTRK1	ORPHA:64752
HP:0007021	Pain insensitivity	4914	NTRK1	ORPHA:642
HP:0007021	Pain insensitivity	4914	NTRK1	OMIM:256800
HP:0007021	Pain insensitivity	59335	PRDM12	OMIM:616488
HP:0007021	Pain insensitivity	10059	DNM1L	OMIM:614388
HP:0007021	Pain insensitivity	4358	MPV17	OMIM:256810
HP:0007021	Pain insensitivity	781	CACNA2D1	OMIM:620149
HP:0007021	Pain insensitivity	80036	TRPM3	OMIM:620224
HP:0007021	Pain insensitivity	55775	TDP1	ORPHA:94124
HP:0007021	Pain insensitivity	4204	MECP2	OMIM:300260
HP:0007021	Pain insensitivity	80821	DDHD1	ORPHA:101008
HP:0007021	Pain insensitivity	6335	SCN9A	OMIM:243000
HP:0007021	Pain insensitivity	219854	TMEM218	OMIM:619562
HP:0007021	Pain insensitivity	11280	SCN11A	OMIM:615548
HP:0007021	Pain insensitivity	10522	DEAF1	OMIM:615828
HP:0007021	Pain insensitivity	10558	SPTLC1	ORPHA:36386
HP:0007021	Pain insensitivity	25923	ATL3	ORPHA:36386
HP:0007021	Pain insensitivity	9517	SPTLC2	ORPHA:36386
HP:0007021	Pain insensitivity	51062	ATL1	ORPHA:36386
HP:0003405	Diffuse axonal swelling	23064	SETX	OMIM:602433
HP:0003405	Diffuse axonal swelling	8398	PLA2G6	ORPHA:35069
HP:0003405	Diffuse axonal swelling	8139	GAN	ORPHA:643
HP:0003406	Peripheral nerve compression	2131	EXT1	ORPHA:321
HP:0003406	Peripheral nerve compression	2131	EXT1	OMIM:133700
HP:0003406	Peripheral nerve compression	2132	EXT2	ORPHA:321
HP:0003406	Peripheral nerve compression	2132	EXT2	OMIM:133701
HP:0009830	Peripheral neuropathy	773	CACNA1A	OMIM:183086
HP:0009830	Peripheral neuropathy	87178	PNPT1	ORPHA:101111
HP:0009830	Peripheral neuropathy	87178	PNPT1	ORPHA:319514
HP:0009830	Peripheral neuropathy	87178	PNPT1	OMIM:608703
HP:0009830	Peripheral neuropathy	7040	TGFB1	ORPHA:1328
HP:0009830	Peripheral neuropathy	57679	ALS2	ORPHA:247604
HP:0009830	Peripheral neuropathy	11160	ERLIN2	ORPHA:247604
HP:0009830	Peripheral neuropathy	1185	CLCN6	OMIM:619173
HP:0009830	Peripheral neuropathy	1384	CRAT	OMIM:617917
HP:0009830	Peripheral neuropathy	85021	REPS1	OMIM:617916
HP:0009830	Peripheral neuropathy	7156	TOP3A	OMIM:618098
HP:0009830	Peripheral neuropathy	667	DST	OMIM:614653
HP:0009830	Peripheral neuropathy	55768	NGLY1	OMIM:615273
HP:0009830	Peripheral neuropathy	7384	UQCRC1	OMIM:619279
HP:0009830	Peripheral neuropathy	9420	CYP7B1	ORPHA:100986
HP:0009830	Peripheral neuropathy	5193	PEX12	OMIM:266510
HP:0009830	Peripheral neuropathy	6711	SPTBN1	OMIM:619475
HP:0009830	Peripheral neuropathy	5702	PSMC3	OMIM:619354
HP:0009830	Peripheral neuropathy	2517	FUCA1	OMIM:230000
HP:0009830	Peripheral neuropathy	22934	RPIA	OMIM:608611
HP:0009830	Peripheral neuropathy	57465	TBC1D24	OMIM:220500
HP:0009830	Peripheral neuropathy	2934	GSN	ORPHA:85448
HP:0009830	Peripheral neuropathy	2934	GSN	OMIM:105120
HP:0009830	Peripheral neuropathy	25814	ATXN10	OMIM:603516
HP:0009830	Peripheral neuropathy	10229	COQ7	OMIM:616733
HP:0009830	Peripheral neuropathy	1910	EDNRB	OMIM:277580
HP:0009830	Peripheral neuropathy	2911	GRM1	OMIM:614831
HP:0009830	Peripheral neuropathy	2911	GRM1	ORPHA:324262
HP:0009830	Peripheral neuropathy	4976	OPA1	OMIM:125250
HP:0009830	Peripheral neuropathy	540	ATP7B	OMIM:277900
HP:0009830	Peripheral neuropathy	5191	PEX7	OMIM:614879
HP:0009830	Peripheral neuropathy	9516	LITAF	OMIM:601098
HP:0009830	Peripheral neuropathy	2729	GCLC	OMIM:230450
HP:0009830	Peripheral neuropathy	23204	ARL6IP1	ORPHA:401780
HP:0009830	Peripheral neuropathy	11155	LDB3	OMIM:609452
HP:0009830	Peripheral neuropathy	9342	SNAP29	OMIM:609528
HP:0009830	Peripheral neuropathy	210	ALAD	ORPHA:100924
HP:0009830	Peripheral neuropathy	966	CD59	OMIM:612300
HP:0009830	Peripheral neuropathy	162417	NAGS	ORPHA:927
HP:0009830	Peripheral neuropathy	5173	PDYN	OMIM:610245
HP:0009830	Peripheral neuropathy	8799	PEX11B	OMIM:614920
HP:0009830	Peripheral neuropathy	3117	HLA-DQA1	OMIM:212750
HP:0009830	Peripheral neuropathy	3119	HLA-DQB1	OMIM:212750
HP:0009830	Peripheral neuropathy	9499	MYOT	OMIM:609200
HP:0009830	Peripheral neuropathy	54968	TMEM70	OMIM:614052
HP:0009830	Peripheral neuropathy	4615	MYD88	OMIM:153600
HP:0009830	Peripheral neuropathy	23312	DMXL2	OMIM:616113
HP:0009830	Peripheral neuropathy	9131	AIFM1	OMIM:300816
HP:0009830	Peripheral neuropathy	10801	SEPTIN9	ORPHA:2901
HP:0009830	Peripheral neuropathy	84668	HYCC1	OMIM:610532
HP:0009830	Peripheral neuropathy	4771	NF2	ORPHA:637
HP:0009830	Peripheral neuropathy	4519	MT-CYB	OMIM:535000
HP:0009830	Peripheral neuropathy	4539	MT-ND4L	OMIM:535000
HP:0009830	Peripheral neuropathy	4536	MT-ND2	OMIM:535000
HP:0009830	Peripheral neuropathy	4763	NF1	ORPHA:97685
HP:0009830	Peripheral neuropathy	5373	PMM2	OMIM:212065
HP:0009830	Peripheral neuropathy	340075	ARSI	ORPHA:401815
HP:0009830	Peripheral neuropathy	23646	PLD3	OMIM:617770
HP:0009830	Peripheral neuropathy	3094	HINT1	ORPHA:324442
HP:0009830	Peripheral neuropathy	3094	HINT1	OMIM:137200
HP:0009830	Peripheral neuropathy	25923	ATL3	OMIM:615632
HP:0009830	Peripheral neuropathy	4744	NEFH	OMIM:616924
HP:0009830	Peripheral neuropathy	2259	FGF14	ORPHA:98764
HP:0009830	Peripheral neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0009830	Peripheral neuropathy	57165	GJC2	OMIM:608804
HP:0009830	Peripheral neuropathy	7084	TK2	ORPHA:254886
HP:0009830	Peripheral neuropathy	3074	HEXB	ORPHA:309169
HP:0009830	Peripheral neuropathy	6472	SHMT2	OMIM:619121
HP:0009830	Peripheral neuropathy	63895	PIEZO2	OMIM:617146
HP:0009830	Peripheral neuropathy	219285	SAMD9L	OMIM:619806
HP:0009830	Peripheral neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0009830	Peripheral neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0009830	Peripheral neuropathy	51	ACOX1	OMIM:618960
HP:0009830	Peripheral neuropathy	116228	COX20	OMIM:619054
HP:0009830	Peripheral neuropathy	7518	XRCC4	OMIM:616541
HP:0009830	Peripheral neuropathy	1509	CTSD	OMIM:610127
HP:0009830	Peripheral neuropathy	823	CAPN1	OMIM:616907
HP:0009830	Peripheral neuropathy	8139	GAN	OMIM:256850
HP:0009830	Peripheral neuropathy	8449	DHX16	OMIM:618733
HP:0009830	Peripheral neuropathy	144165	PRICKLE1	OMIM:612437
HP:0009830	Peripheral neuropathy	4000	LMNA	ORPHA:98856
HP:0009830	Peripheral neuropathy	2395	FXN	ORPHA:95
HP:0009830	Peripheral neuropathy	1756	DMD	ORPHA:206546
HP:0009830	Peripheral neuropathy	50846	DHH	ORPHA:168563
HP:0009830	Peripheral neuropathy	291	SLC25A4	ORPHA:254892
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:254892
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:298
HP:0009830	Peripheral neuropathy	5428	POLG	OMIM:607459
HP:0009830	Peripheral neuropathy	56652	TWNK	ORPHA:254892
HP:0009830	Peripheral neuropathy	56652	TWNK	OMIM:607459
HP:0009830	Peripheral neuropathy	11232	POLG2	ORPHA:254892
HP:0009830	Peripheral neuropathy	11232	POLG2	OMIM:619425
HP:0009830	Peripheral neuropathy	50484	RRM2B	ORPHA:254892
HP:0009830	Peripheral neuropathy	50484	RRM2B	ORPHA:298
HP:0009830	Peripheral neuropathy	9488	PIGB	OMIM:618580
HP:0009830	Peripheral neuropathy	4141	MARS1	OMIM:616280
HP:0009830	Peripheral neuropathy	4558	MT-TF	ORPHA:550
HP:0009830	Peripheral neuropathy	4572	MT-TQ	ORPHA:550
HP:0009830	Peripheral neuropathy	4512	MT-CO1	ORPHA:550
HP:0009830	Peripheral neuropathy	4513	MT-CO2	ORPHA:550
HP:0009830	Peripheral neuropathy	4514	MT-CO3	ORPHA:550
HP:0009830	Peripheral neuropathy	4578	MT-TW	ORPHA:550
HP:0009830	Peripheral neuropathy	4540	MT-ND5	ORPHA:550
HP:0009830	Peripheral neuropathy	4541	MT-ND6	ORPHA:550
HP:0009830	Peripheral neuropathy	4535	MT-ND1	ORPHA:550
HP:0009830	Peripheral neuropathy	4538	MT-ND4	ORPHA:550
HP:0009830	Peripheral neuropathy	4567	MT-TL1	ORPHA:550
HP:0009830	Peripheral neuropathy	4574	MT-TS1	ORPHA:550
HP:0009830	Peripheral neuropathy	4575	MT-TS2	ORPHA:550
HP:0009830	Peripheral neuropathy	4564	MT-TH	ORPHA:550
HP:0009830	Peripheral neuropathy	23769	FLRT1	ORPHA:320406
HP:0009830	Peripheral neuropathy	64837	KLC2	ORPHA:320406
HP:0009830	Peripheral neuropathy	91574	MTRFR	ORPHA:254930
HP:0009830	Peripheral neuropathy	91574	MTRFR	OMIM:615035
HP:0009830	Peripheral neuropathy	1161	ERCC8	ORPHA:90324
HP:0009830	Peripheral neuropathy	2074	ERCC6	ORPHA:90324
HP:0009830	Peripheral neuropathy	80821	DDHD1	OMIM:609340
HP:0009830	Peripheral neuropathy	50717	DCAF8	OMIM:610100
HP:0009830	Peripheral neuropathy	57704	GBA2	ORPHA:352641
HP:0009830	Peripheral neuropathy	57704	GBA2	ORPHA:320391
HP:0009830	Peripheral neuropathy	673	BRAF	OMIM:115150
HP:0009830	Peripheral neuropathy	19	ABCA1	OMIM:205400
HP:0009830	Peripheral neuropathy	19	ABCA1	ORPHA:31150
HP:0009830	Peripheral neuropathy	4508	MT-ATP6	ORPHA:320360
HP:0009830	Peripheral neuropathy	4747	NEFL	ORPHA:99939
HP:0009830	Peripheral neuropathy	5361	PLXNA1	OMIM:619955
HP:0009830	Peripheral neuropathy	23345	SYNE1	OMIM:610743
HP:0009830	Peripheral neuropathy	10516	FBLN5	OMIM:608895
HP:0009830	Peripheral neuropathy	274	BIN1	ORPHA:169189
HP:0009830	Peripheral neuropathy	64419	MTMR14	ORPHA:169189
HP:0009830	Peripheral neuropathy	4618	MYF6	ORPHA:169189
HP:0009830	Peripheral neuropathy	1785	DNM2	ORPHA:169189
HP:0009830	Peripheral neuropathy	6261	RYR1	ORPHA:169189
HP:0009830	Peripheral neuropathy	59341	TRPV4	OMIM:156530
HP:0009830	Peripheral neuropathy	200205	IBA57	ORPHA:468661
HP:0009830	Peripheral neuropathy	200205	IBA57	OMIM:616451
HP:0009830	Peripheral neuropathy	55187	VPS13D	OMIM:607317
HP:0009830	Peripheral neuropathy	81790	RNF170	OMIM:619686
HP:0009830	Peripheral neuropathy	478	ATP1A3	OMIM:601338
HP:0009830	Peripheral neuropathy	55182	RNF220	OMIM:619688
HP:0009830	Peripheral neuropathy	6905	TBCE	ORPHA:496756
HP:0009830	Peripheral neuropathy	6905	TBCE	OMIM:617207
HP:0009830	Peripheral neuropathy	547	KIF1A	OMIM:610357
HP:0009830	Peripheral neuropathy	547	KIF1A	OMIM:614255
HP:0009830	Peripheral neuropathy	10908	PNPLA6	OMIM:275400
HP:0009830	Peripheral neuropathy	5660	PSAP	OMIM:611722
HP:0009830	Peripheral neuropathy	271	AMPD2	OMIM:615809
HP:0009830	Peripheral neuropathy	3767	KCNJ11	ORPHA:99885
HP:0009830	Peripheral neuropathy	6774	STAT3	ORPHA:99885
HP:0009830	Peripheral neuropathy	2645	GCK	ORPHA:99885
HP:0009830	Peripheral neuropathy	3651	PDX1	ORPHA:99885
HP:0009830	Peripheral neuropathy	6833	ABCC8	ORPHA:99885
HP:0009830	Peripheral neuropathy	3630	INS	ORPHA:99885
HP:0009830	Peripheral neuropathy	1890	TYMP	ORPHA:298
HP:0009830	Peripheral neuropathy	3980	LIG3	ORPHA:298
HP:0009830	Peripheral neuropathy	8888	MCM3AP	OMIM:618124
HP:0009830	Peripheral neuropathy	23250	ATP11A	OMIM:619851
HP:0009830	Peripheral neuropathy	23321	TRIM2	OMIM:615490
HP:0009830	Peripheral neuropathy	4358	MPV17	OMIM:618400
HP:0009830	Peripheral neuropathy	10381	TUBB3	OMIM:600638
HP:0009830	Peripheral neuropathy	215	ABCD1	ORPHA:139396
HP:0009830	Peripheral neuropathy	79628	SH3TC2	OMIM:613353
HP:0009830	Peripheral neuropathy	1778	DYNC1H1	OMIM:614563
HP:0009830	Peripheral neuropathy	55157	DARS2	ORPHA:137898
HP:0009830	Peripheral neuropathy	55157	DARS2	OMIM:611105
HP:0009830	Peripheral neuropathy	91137	SLC25A46	OMIM:616505
HP:0009830	Peripheral neuropathy	91137	SLC25A46	ORPHA:2254
HP:0009830	Peripheral neuropathy	54463	RETREG1	OMIM:613115
HP:0009830	Peripheral neuropathy	51008	ASCC1	OMIM:616867
HP:0009830	Peripheral neuropathy	9325	TRIP4	OMIM:616866
HP:0009830	Peripheral neuropathy	8398	PLA2G6	ORPHA:35069
HP:0009830	Peripheral neuropathy	5351	PLOD1	ORPHA:1900
HP:0009830	Peripheral neuropathy	10939	AFG3L2	ORPHA:313772
HP:0009830	Peripheral neuropathy	7276	TTR	OMIM:105210
HP:0009830	Peripheral neuropathy	2632	GBE1	OMIM:263570
HP:0009830	Peripheral neuropathy	10367	MICU1	ORPHA:401768
HP:0009830	Peripheral neuropathy	10367	MICU1	OMIM:615673
HP:0009830	Peripheral neuropathy	23400	ATP13A2	ORPHA:513436
HP:0009830	Peripheral neuropathy	23400	ATP13A2	OMIM:617225
HP:0009830	Peripheral neuropathy	2064	ERBB2	OMIM:619465
HP:0009830	Peripheral neuropathy	80208	SPG11	ORPHA:2822
HP:0009830	Peripheral neuropathy	80208	SPG11	OMIM:616668
HP:0009830	Peripheral neuropathy	55775	TDP1	OMIM:607250
HP:0009830	Peripheral neuropathy	23230	VPS13A	ORPHA:2388
HP:0009830	Peripheral neuropathy	55210	ATAD3A	OMIM:618810
HP:0009830	Peripheral neuropathy	55210	ATAD3A	ORPHA:496790
HP:0009830	Peripheral neuropathy	55210	ATAD3A	OMIM:617183
HP:0009830	Peripheral neuropathy	2783	GNB2	OMIM:619503
HP:0009830	Peripheral neuropathy	4359	MPZ	ORPHA:101082
HP:0009830	Peripheral neuropathy	3475	IFRD1	ORPHA:98771
HP:0009830	Peripheral neuropathy	3735	KARS1	OMIM:619196
HP:0009830	Peripheral neuropathy	113612	CYP2U1	OMIM:615030
HP:0009830	Peripheral neuropathy	113612	CYP2U1	ORPHA:320411
HP:0009830	Peripheral neuropathy	65260	COA7	OMIM:618387
HP:0009830	Peripheral neuropathy	7415	VCP	ORPHA:435387
HP:0009830	Peripheral neuropathy	3845	KRAS	OMIM:615278
HP:0009830	Peripheral neuropathy	11340	EXOSC8	ORPHA:2254
HP:0009830	Peripheral neuropathy	5393	EXOSC9	ORPHA:2254
HP:0009830	Peripheral neuropathy	23287	AGTPBP1	ORPHA:2254
HP:0009830	Peripheral neuropathy	51010	EXOSC3	ORPHA:2254
HP:0009830	Peripheral neuropathy	7443	VRK1	ORPHA:2254
HP:0009830	Peripheral neuropathy	4287	ATXN3	ORPHA:276244
HP:0009830	Peripheral neuropathy	60481	ELOVL5	OMIM:615957
HP:0009830	Peripheral neuropathy	7345	UCHL1	OMIM:620221
HP:0009830	Peripheral neuropathy	23503	ZFYVE26	OMIM:270700
HP:0009830	Peripheral neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0009830	Peripheral neuropathy	4311	MME	ORPHA:497764
HP:0009830	Peripheral neuropathy	3766	KCNJ10	ORPHA:199343
HP:0009830	Peripheral neuropathy	55958	KLHL9	ORPHA:399081
HP:0009830	Peripheral neuropathy	23095	KIF1B	OMIM:118210
HP:0009830	Peripheral neuropathy	6785	ELOVL4	OMIM:133190
HP:0009830	Peripheral neuropathy	51062	ATL1	OMIM:613708
HP:0009830	Peripheral neuropathy	80347	COASY	ORPHA:397725
HP:0009830	Peripheral neuropathy	22880	MORC2	OMIM:619090
HP:0009830	Peripheral neuropathy	1716	DGUOK	OMIM:617070
HP:0009830	Peripheral neuropathy	9147	NEMF	OMIM:619099
HP:0009830	Peripheral neuropathy	2733	GLE1	OMIM:611890
HP:0009830	Peripheral neuropathy	60386	SLC25A19	OMIM:613710
HP:0009830	Peripheral neuropathy	23533	PIK3R5	OMIM:615217
HP:0009830	Peripheral neuropathy	57731	SPTBN4	OMIM:617519
HP:0009830	Peripheral neuropathy	5832	ALDH18A1	ORPHA:447757
HP:0009830	Peripheral neuropathy	4556	MT-TE	ORPHA:2596
HP:0009830	Peripheral neuropathy	710	SERPING1	OMIM:106100
HP:0009830	Peripheral neuropathy	26353	HSPB8	OMIM:608673
HP:0009830	Peripheral neuropathy	4668	NAGA	OMIM:609242
HP:0009830	Peripheral neuropathy	3098	HK1	ORPHA:99953
HP:0009830	Peripheral neuropathy	5631	PRPS1	OMIM:300661
HP:0009830	Peripheral neuropathy	3798	KIF5A	ORPHA:100991
HP:0009830	Peripheral neuropathy	9927	MFN2	OMIM:617087
HP:0009830	Peripheral neuropathy	27072	VPS41	OMIM:619389
HP:0009830	Peripheral neuropathy	7466	WFS1	ORPHA:411590
HP:0009830	Peripheral neuropathy	22948	CCT5	OMIM:256840
HP:0009830	Peripheral neuropathy	16	AARS1	OMIM:613287
HP:0009830	Peripheral neuropathy	23064	SETX	OMIM:606002
HP:0009830	Peripheral neuropathy	3315	HSPB1	ORPHA:99940
HP:0009830	Peripheral neuropathy	65055	REEP1	OMIM:620011
HP:0009830	Peripheral neuropathy	9990	SLC12A6	OMIM:218000
HP:0009830	Peripheral neuropathy	1371	CPOX	OMIM:121300
HP:0009830	Peripheral neuropathy	3852	KRT5	ORPHA:79400
HP:0009830	Peripheral neuropathy	3861	KRT14	ORPHA:79400
HP:0009830	Peripheral neuropathy	2184	FAH	OMIM:276700
HP:0009830	Peripheral neuropathy	6904	TBCD	ORPHA:496641
HP:0009830	Peripheral neuropathy	9150	CTDP1	ORPHA:48431
HP:0009830	Peripheral neuropathy	64856	VWA1	OMIM:619216
HP:0009830	Peripheral neuropathy	3839	KPNA3	OMIM:620106
HP:0009830	Peripheral neuropathy	29926	GMPPA	ORPHA:869
HP:0009830	Peripheral neuropathy	60684	TRAPPC11	ORPHA:869
HP:0009830	Peripheral neuropathy	8086	AAAS	ORPHA:869
HP:0009830	Peripheral neuropathy	8086	AAAS	OMIM:231550
HP:0009830	Peripheral neuropathy	57599	WDR48	ORPHA:401800
HP:0009830	Peripheral neuropathy	6687	SPG7	ORPHA:35689
HP:0009830	Peripheral neuropathy	7504	XK	OMIM:300842
HP:0009830	Peripheral neuropathy	83636	C19orf12	OMIM:614298
HP:0009830	Peripheral neuropathy	51305	KCNK9	ORPHA:166108
HP:0009830	Peripheral neuropathy	7453	WARS1	OMIM:617721
HP:0009830	Peripheral neuropathy	5192	PEX10	OMIM:614871
HP:0009830	Peripheral neuropathy	5192	PEX10	ORPHA:247815
HP:0009830	Peripheral neuropathy	3035	HARS1	ORPHA:488333
HP:0009830	Peripheral neuropathy	3145	HMBS	ORPHA:79276
HP:0009830	Peripheral neuropathy	10558	SPTLC1	ORPHA:36386
HP:0009830	Peripheral neuropathy	22943	DKK1	ORPHA:268882
HP:0009830	Peripheral neuropathy	51651	PTRH2	OMIM:616263
HP:0009830	Peripheral neuropathy	4897	NRCAM	OMIM:619833
HP:0009830	Peripheral neuropathy	8560	DEGS1	OMIM:618404
HP:0009830	Peripheral neuropathy	7841	MOGS	OMIM:606056
HP:0009830	Peripheral neuropathy	10397	NDRG1	ORPHA:99950
HP:0009830	Peripheral neuropathy	5354	PLP1	ORPHA:280234
HP:0009830	Peripheral neuropathy	55703	POLR3B	OMIM:619742
HP:0009830	Peripheral neuropathy	4126	MANBA	OMIM:248510
HP:0009830	Peripheral neuropathy	2068	ERCC2	ORPHA:220295
HP:0009830	Peripheral neuropathy	2073	ERCC5	ORPHA:220295
HP:0009830	Peripheral neuropathy	2072	ERCC4	ORPHA:220295
HP:0009830	Peripheral neuropathy	2071	ERCC3	ORPHA:220295
HP:0009830	Peripheral neuropathy	50	ACO2	OMIM:614559
HP:0009830	Peripheral neuropathy	9531	BAG3	OMIM:612954
HP:0009830	Peripheral neuropathy	6663	SOX10	OMIM:609136
HP:0009830	Peripheral neuropathy	10535	RNASEH2A	ORPHA:51
HP:0009830	Peripheral neuropathy	84153	RNASEH2C	ORPHA:51
HP:0009830	Peripheral neuropathy	25939	SAMHD1	ORPHA:51
HP:0009830	Peripheral neuropathy	79621	RNASEH2B	ORPHA:51
HP:0009830	Peripheral neuropathy	103	ADAR	ORPHA:51
HP:0009830	Peripheral neuropathy	11277	TREX1	ORPHA:51
HP:0009830	Peripheral neuropathy	100147744	RNU7-1	ORPHA:51
HP:0009830	Peripheral neuropathy	134353	LSM11	ORPHA:51
HP:0009830	Peripheral neuropathy	64135	IFIH1	ORPHA:51
HP:0009830	Peripheral neuropathy	165918	RNF168	ORPHA:420741
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309271
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309263
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309256
HP:0009830	Peripheral neuropathy	410	ARSA	OMIM:250100
HP:0009830	Peripheral neuropathy	1130	LYST	OMIM:214500
HP:0009830	Peripheral neuropathy	246243	RNASEH1	ORPHA:329336
HP:0009830	Peripheral neuropathy	11284	PNKP	ORPHA:459033
HP:0009830	Peripheral neuropathy	23600	AMACR	OMIM:614307
HP:0009830	Peripheral neuropathy	23600	AMACR	ORPHA:79095
HP:0009830	Peripheral neuropathy	79581	SLC52A2	OMIM:614707
HP:0009830	Peripheral neuropathy	5521	PPP2R2B	OMIM:604326
HP:0009830	Peripheral neuropathy	5521	PPP2R2B	ORPHA:98762
HP:0009830	Peripheral neuropathy	7879	RAB7A	OMIM:600882
HP:0009830	Peripheral neuropathy	4537	MT-ND3	ORPHA:255210
HP:0009830	Peripheral neuropathy	4577	MT-TV	ORPHA:255210
HP:0009830	Peripheral neuropathy	4566	MT-TK	ORPHA:255210
HP:0009830	Peripheral neuropathy	5264	PHYH	OMIM:266500
HP:0009830	Peripheral neuropathy	10978	CLP1	ORPHA:411493
HP:0009830	Peripheral neuropathy	2581	GALC	ORPHA:206448
HP:0009830	Peripheral neuropathy	2581	GALC	ORPHA:206436
HP:0009830	Peripheral neuropathy	2581	GALC	OMIM:245200
HP:0009830	Peripheral neuropathy	3908	LAMA2	ORPHA:258
HP:0009830	Peripheral neuropathy	3908	LAMA2	OMIM:618138
HP:0009830	Peripheral neuropathy	10059	DNM1L	ORPHA:98673
HP:0009830	Peripheral neuropathy	10342	TFG	ORPHA:431329
HP:0009830	Peripheral neuropathy	28958	COA3	OMIM:619058
HP:0009830	Peripheral neuropathy	5190	PEX6	ORPHA:95433
HP:0009830	Peripheral neuropathy	54332	GDAP1	ORPHA:101097
HP:0009830	Peripheral neuropathy	51608	GET4	OMIM:620200
HP:0009830	Peripheral neuropathy	84334	COA8	OMIM:619061
HP:0009830	Peripheral neuropathy	2583	B4GALNT1	ORPHA:101006
HP:0009830	Peripheral neuropathy	112812	FDX2	OMIM:251900
HP:0009830	Peripheral neuropathy	26278	SACS	ORPHA:98
HP:0009830	Peripheral neuropathy	191	AHCY	ORPHA:88618
HP:0009830	Peripheral neuropathy	9517	SPTLC2	OMIM:613640
HP:0009830	Peripheral neuropathy	26090	ABHD12	OMIM:612674
HP:0009830	Peripheral neuropathy	2705	GJB1	ORPHA:1175
HP:0009830	Peripheral neuropathy	5376	PMP22	ORPHA:3115
HP:0009830	Peripheral neuropathy	9997	SCO2	OMIM:604377
HP:0009830	Peripheral neuropathy	55699	IARS2	OMIM:616007
HP:0009830	Peripheral neuropathy	4361	MRE11	ORPHA:251347
HP:0009830	Peripheral neuropathy	3032	HADHB	ORPHA:746
HP:0009830	Peripheral neuropathy	3030	HADHA	ORPHA:746
HP:0009830	Peripheral neuropathy	476	ATP1A1	OMIM:618036
HP:0009830	Peripheral neuropathy	5165	PDK3	ORPHA:352675
HP:0009830	Peripheral neuropathy	3295	HSD17B4	OMIM:233400
HP:0009830	Peripheral neuropathy	23529	CLCF1	OMIM:610313
HP:0009830	Peripheral neuropathy	5981	RFC1	ORPHA:504476
HP:0009830	Peripheral neuropathy	11117	EMILIN1	OMIM:620080
HP:0009830	Peripheral neuropathy	7515	XRCC1	OMIM:617633
HP:0009830	Peripheral neuropathy	5611	DNAJC3	ORPHA:445062
HP:0009830	Peripheral neuropathy	55532	SLC30A10	OMIM:613280
HP:0009830	Peripheral neuropathy	3508	IGHMBP2	OMIM:616155
HP:0009830	Peripheral neuropathy	57410	SCYL1	OMIM:616719
HP:0009830	Peripheral neuropathy	567	B2M	ORPHA:314652
HP:0009830	Peripheral neuropathy	7317	UBA1	ORPHA:1145
HP:0009830	Peripheral neuropathy	51692	CPSF3	OMIM:619876
HP:0009830	Peripheral neuropathy	26580	BSCL2	ORPHA:139536
HP:0009830	Peripheral neuropathy	4649	MYO9A	ORPHA:98914
HP:0009830	Peripheral neuropathy	1305	COL13A1	ORPHA:98914
HP:0009830	Peripheral neuropathy	1103	CHAT	ORPHA:98914
HP:0009830	Peripheral neuropathy	6576	SLC25A1	ORPHA:98914
HP:0009830	Peripheral neuropathy	6843	VAMP1	ORPHA:98914
HP:0009830	Peripheral neuropathy	375790	AGRN	ORPHA:98914
HP:0009830	Peripheral neuropathy	127833	SYT2	ORPHA:98914
HP:0009830	Peripheral neuropathy	6572	SLC18A3	ORPHA:98914
HP:0009830	Peripheral neuropathy	6616	SNAP25	ORPHA:98914
HP:0009830	Peripheral neuropathy	85465	SELENOI	ORPHA:506353
HP:0009830	Peripheral neuropathy	84342	COG8	ORPHA:95428
HP:0009830	Peripheral neuropathy	26191	PTPN22	ORPHA:397
HP:0009830	Peripheral neuropathy	26191	PTPN22	ORPHA:900
HP:0009830	Peripheral neuropathy	3106	HLA-B	ORPHA:397
HP:0009830	Peripheral neuropathy	3123	HLA-DRB1	ORPHA:397
HP:0009830	Peripheral neuropathy	3123	HLA-DRB1	ORPHA:797
HP:0009830	Peripheral neuropathy	8974	P4HA2	ORPHA:397
HP:0009830	Peripheral neuropathy	10749	KIF1C	ORPHA:397946
HP:0009830	Peripheral neuropathy	5573	PRKAR1A	ORPHA:950
HP:0009830	Peripheral neuropathy	5144	PDE4D	ORPHA:950
HP:0009830	Peripheral neuropathy	4524	MTHFR	ORPHA:395
HP:0009830	Peripheral neuropathy	4099	MAG	OMIM:616680
HP:0009830	Peripheral neuropathy	6834	SURF1	OMIM:616684
HP:0009830	Peripheral neuropathy	6834	SURF1	ORPHA:70474
HP:0009830	Peripheral neuropathy	6834	SURF1	ORPHA:255241
HP:0009830	Peripheral neuropathy	8518	ELP1	ORPHA:1764
HP:0009830	Peripheral neuropathy	7148	TNXB	ORPHA:230839
HP:0009830	Peripheral neuropathy	1593	CYP27A1	OMIM:213700
HP:0009830	Peripheral neuropathy	1593	CYP27A1	ORPHA:909
HP:0009830	Peripheral neuropathy	1786	DNMT1	ORPHA:314404
HP:0009830	Peripheral neuropathy	80270	HSD3B7	ORPHA:79301
HP:0009830	Peripheral neuropathy	162	AP1B1	OMIM:242150
HP:0009830	Peripheral neuropathy	162	AP1B1	ORPHA:171851
HP:0009830	Peripheral neuropathy	4552	MTRR	ORPHA:2169
HP:0009830	Peripheral neuropathy	2314	FLII	ORPHA:819
HP:0009830	Peripheral neuropathy	23096	IQSEC2	ORPHA:819
HP:0009830	Peripheral neuropathy	10743	RAI1	ORPHA:819
HP:0009830	Peripheral neuropathy	10743	RAI1	OMIM:182290
HP:0009830	Peripheral neuropathy	10522	DEAF1	ORPHA:819
HP:0009830	Peripheral neuropathy	5498	PPOX	OMIM:176200
HP:0009830	Peripheral neuropathy	3077	HFE	OMIM:176200
HP:0009830	Peripheral neuropathy	3077	HFE	ORPHA:465508
HP:0009830	Peripheral neuropathy	25778	DSTYK	OMIM:270750
HP:0009830	Peripheral neuropathy	51324	SPG21	OMIM:248900
HP:0009830	Peripheral neuropathy	60482	SLC5A7	OMIM:158580
HP:0009830	Peripheral neuropathy	2200	FBN1	ORPHA:2833
HP:0009830	Peripheral neuropathy	2200	FBN1	OMIM:184900
HP:0009830	Peripheral neuropathy	2332	FMR1	ORPHA:93256
HP:0009830	Peripheral neuropathy	2332	FMR1	OMIM:300623
HP:0009830	Peripheral neuropathy	343641	TGM6	ORPHA:276193
HP:0009830	Peripheral neuropathy	7274	TTPA	ORPHA:96
HP:0009830	Peripheral neuropathy	79152	FA2H	ORPHA:329308
HP:0009830	Peripheral neuropathy	23203	PMPCA	ORPHA:1170
HP:0009830	Peripheral neuropathy	514	ATP5F1E	OMIM:614053
HP:0009830	Peripheral neuropathy	113235	SLC46A1	OMIM:229050
HP:0009830	Peripheral neuropathy	113235	SLC46A1	ORPHA:90045
HP:0009830	Peripheral neuropathy	9907	AP5Z1	OMIM:613647
HP:0009830	Peripheral neuropathy	9907	AP5Z1	ORPHA:306511
HP:0009830	Peripheral neuropathy	4853	NOTCH2	ORPHA:955
HP:0009830	Peripheral neuropathy	113278	SLC52A3	OMIM:211530
HP:0009830	Peripheral neuropathy	1174	AP1S1	OMIM:609313
HP:0009830	Peripheral neuropathy	1174	AP1S1	ORPHA:171851
HP:0009830	Peripheral neuropathy	4854	NOTCH3	OMIM:125310
HP:0009830	Peripheral neuropathy	4069	LYZ	OMIM:105200
HP:0009830	Peripheral neuropathy	2243	FGA	OMIM:105200
HP:0009830	Peripheral neuropathy	335	APOA1	OMIM:105200
HP:0009830	Peripheral neuropathy	10804	GJB6	ORPHA:477
HP:0009830	Peripheral neuropathy	2706	GJB2	ORPHA:477
HP:0009830	Peripheral neuropathy	8879	SGPL1	OMIM:617575
HP:0009830	Peripheral neuropathy	51660	MPC1	OMIM:614741
HP:0009830	Peripheral neuropathy	54840	APTX	ORPHA:1168
HP:0009830	Peripheral neuropathy	57863	CADM3	OMIM:619519
HP:0009830	Peripheral neuropathy	7454	WAS	ORPHA:906
HP:0009830	Peripheral neuropathy	7456	WIPF1	ORPHA:906
HP:0009830	Peripheral neuropathy	5189	PEX1	ORPHA:3220
HP:0009830	Peripheral neuropathy	146057	TTBK2	ORPHA:98767
HP:0009830	Peripheral neuropathy	1493	CTLA4	ORPHA:900
HP:0009830	Peripheral neuropathy	1493	CTLA4	ORPHA:3162
HP:0009830	Peripheral neuropathy	3115	HLA-DPB1	ORPHA:900
HP:0009830	Peripheral neuropathy	5657	PRTN3	ORPHA:900
HP:0009830	Peripheral neuropathy	3113	HLA-DPA1	ORPHA:900
HP:0009830	Peripheral neuropathy	493856	CISD2	ORPHA:3463
HP:0009830	Peripheral neuropathy	8659	ALDH4A1	ORPHA:79101
HP:0009830	Peripheral neuropathy	84277	DNAJC30	ORPHA:104
HP:0009830	Peripheral neuropathy	4720	NDUFS2	ORPHA:104
HP:0009830	Peripheral neuropathy	4720	NDUFS2	ORPHA:70474
HP:0009830	Peripheral neuropathy	4720	NDUFS2	ORPHA:255241
HP:0009830	Peripheral neuropathy	11128	POLR3A	ORPHA:447896
HP:0009830	Peripheral neuropathy	11128	POLR3A	OMIM:607694
HP:0009830	Peripheral neuropathy	4247	MGAT2	ORPHA:79329
HP:0009830	Peripheral neuropathy	4669	NAGLU	OMIM:616491
HP:0009830	Peripheral neuropathy	9409	PEX16	OMIM:614877
HP:0009830	Peripheral neuropathy	25828	TXN2	OMIM:616811
HP:0009830	Peripheral neuropathy	3662	IRF4	ORPHA:3452
HP:0009830	Peripheral neuropathy	6310	ATXN1	ORPHA:98755
HP:0009830	Peripheral neuropathy	6310	ATXN1	OMIM:164400
HP:0009830	Peripheral neuropathy	9180	OSMR	OMIM:105250
HP:0009830	Peripheral neuropathy	4677	NARS1	OMIM:619091
HP:0009830	Peripheral neuropathy	4677	NARS1	OMIM:619092
HP:0009830	Peripheral neuropathy	654	BMP6	ORPHA:465508
HP:0009830	Peripheral neuropathy	404672	GTF2H5	ORPHA:33364
HP:0009830	Peripheral neuropathy	833	CARS1	ORPHA:33364
HP:0009830	Peripheral neuropathy	7737	RNF113A	ORPHA:33364
HP:0009830	Peripheral neuropathy	136647	MPLKIP	ORPHA:33364
HP:0009830	Peripheral neuropathy	6897	TARS1	ORPHA:33364
HP:0009830	Peripheral neuropathy	2961	GTF2E2	ORPHA:33364
HP:0009830	Peripheral neuropathy	3954	LETM1	OMIM:620089
HP:0009830	Peripheral neuropathy	8813	DPM1	ORPHA:79322
HP:0009830	Peripheral neuropathy	84295	PHF6	ORPHA:127
HP:0009830	Peripheral neuropathy	65125	WNK1	OMIM:201300
HP:0009830	Peripheral neuropathy	6335	SCN9A	OMIM:201300
HP:0009830	Peripheral neuropathy	6335	SCN9A	ORPHA:90026
HP:0009830	Peripheral neuropathy	1337	COX6A1	OMIM:616039
HP:0009830	Peripheral neuropathy	23590	PDSS1	OMIM:614651
HP:0009830	Peripheral neuropathy	5830	PEX5	OMIM:616716
HP:0009830	Peripheral neuropathy	7507	XPA	ORPHA:910
HP:0009830	Peripheral neuropathy	7508	XPC	ORPHA:910
HP:0009830	Peripheral neuropathy	1643	DDB2	ORPHA:910
HP:0009830	Peripheral neuropathy	2639	GCDH	ORPHA:25
HP:0009830	Peripheral neuropathy	7167	TPI1	OMIM:615512
HP:0009830	Peripheral neuropathy	4803	NGF	OMIM:608654
HP:0009830	Peripheral neuropathy	1776	DNASE1L3	ORPHA:36412
HP:0009830	Peripheral neuropathy	5551	PRF1	ORPHA:540
HP:0009830	Peripheral neuropathy	8676	STX11	ORPHA:540
HP:0009830	Peripheral neuropathy	201294	UNC13D	ORPHA:540
HP:0009830	Peripheral neuropathy	6813	STXBP2	ORPHA:540
HP:0009830	Peripheral neuropathy	1959	EGR2	OMIM:607678
HP:0009830	Peripheral neuropathy	1959	EGR2	OMIM:605253
HP:0009830	Peripheral neuropathy	724066	ATXN8	OMIM:608768
HP:0009830	Peripheral neuropathy	6315	ATXN8OS	OMIM:608768
HP:0009830	Peripheral neuropathy	113179	ADAT3	ORPHA:363528
HP:0009830	Peripheral neuropathy	79731	NARS2	ORPHA:79134
HP:0009830	Peripheral neuropathy	164656	TMPRSS6	ORPHA:209981
HP:0009830	Peripheral neuropathy	6609	SMPD1	ORPHA:77293
HP:0009830	Peripheral neuropathy	11280	SCN11A	ORPHA:90026
HP:0009830	Peripheral neuropathy	6336	SCN10A	ORPHA:90026
HP:0009830	Peripheral neuropathy	2067	ERCC1	ORPHA:1466
HP:0009830	Peripheral neuropathy	51300	TIMMDC1	OMIM:618251
HP:0009830	Peripheral neuropathy	64423	INF2	OMIM:614455
HP:0009830	Peripheral neuropathy	2065	ERBB3	OMIM:243180
HP:0009830	Peripheral neuropathy	64374	SIL1	ORPHA:559
HP:0009830	Peripheral neuropathy	51763	INPP5K	ORPHA:559
HP:0009830	Peripheral neuropathy	56244	BTNL2	ORPHA:797
HP:0009830	Peripheral neuropathy	23476	BRD4	ORPHA:199
HP:0009830	Peripheral neuropathy	9126	SMC3	ORPHA:199
HP:0009830	Peripheral neuropathy	8243	SMC1A	ORPHA:199
HP:0009830	Peripheral neuropathy	25836	NIPBL	ORPHA:199
HP:0009830	Peripheral neuropathy	55869	HDAC8	ORPHA:199
HP:0009830	Peripheral neuropathy	5885	RAD21	ORPHA:199
HP:0009830	Peripheral neuropathy	79784	MYH14	ORPHA:397744
HP:0009830	Peripheral neuropathy	79784	MYH14	OMIM:614369
HP:0009830	Peripheral neuropathy	28962	OSTM1	ORPHA:85179
HP:0009830	Peripheral neuropathy	8988	HSPB3	OMIM:613376
HP:0009830	Peripheral neuropathy	189	AGXT	OMIM:259900
HP:0009830	Peripheral neuropathy	10128	LRPPRC	ORPHA:70472
HP:0009830	Peripheral neuropathy	526	ATP6V1B2	ORPHA:79500
HP:0009830	Peripheral neuropathy	25915	NDUFAF3	ORPHA:70474
HP:0009830	Peripheral neuropathy	4714	NDUFB8	ORPHA:70474
HP:0009830	Peripheral neuropathy	51816	ADA2	OMIM:615688
HP:0009830	Peripheral neuropathy	57570	TRMT5	OMIM:616539
HP:0009830	Peripheral neuropathy	3033	HADH	ORPHA:71212
HP:0009830	Peripheral neuropathy	3710	ITPR3	OMIM:620111
HP:0009830	Peripheral neuropathy	2617	GARS1	OMIM:600794
HP:0009830	Peripheral neuropathy	6389	SDHA	ORPHA:255241
HP:0009830	Peripheral neuropathy	80704	SLC19A3	ORPHA:255241
HP:0009830	Peripheral neuropathy	91942	NDUFAF2	ORPHA:255241
HP:0009830	Peripheral neuropathy	4723	NDUFV1	ORPHA:255241
HP:0009830	Peripheral neuropathy	55572	FOXRED1	ORPHA:255241
HP:0009830	Peripheral neuropathy	4729	NDUFV2	ORPHA:255241
HP:0009830	Peripheral neuropathy	55967	NDUFA12	ORPHA:255241
HP:0009830	Peripheral neuropathy	51204	TACO1	ORPHA:255241
HP:0009830	Peripheral neuropathy	4724	NDUFS4	ORPHA:255241
HP:0009830	Peripheral neuropathy	4728	NDUFS8	ORPHA:255241
HP:0009830	Peripheral neuropathy	137682	NDUFAF6	ORPHA:255241
HP:0009830	Peripheral neuropathy	4722	NDUFS3	ORPHA:255241
HP:0009830	Peripheral neuropathy	79133	NDUFAF5	ORPHA:255241
HP:0009830	Peripheral neuropathy	5160	PDHA1	ORPHA:255241
HP:0009830	Peripheral neuropathy	100131801	PET100	ORPHA:255241
HP:0009830	Peripheral neuropathy	1355	COX15	ORPHA:255241
HP:0009830	Peripheral neuropathy	1892	ECHS1	ORPHA:255241
HP:0009830	Peripheral neuropathy	123263	MTFMT	ORPHA:255241
HP:0009830	Peripheral neuropathy	51079	NDUFA13	ORPHA:255241
HP:0009830	Peripheral neuropathy	374291	NDUFS7	ORPHA:255241
HP:0009830	Peripheral neuropathy	4705	NDUFA10	ORPHA:255241
HP:0009830	Peripheral neuropathy	51601	LIPT1	ORPHA:255241
HP:0009830	Peripheral neuropathy	4719	NDUFS1	ORPHA:255241
HP:0009830	Peripheral neuropathy	4695	NDUFA2	ORPHA:255241
HP:0009830	Peripheral neuropathy	4697	NDUFA4	ORPHA:255241
HP:0009830	Peripheral neuropathy	4704	NDUFA9	ORPHA:255241
HP:0009830	Peripheral neuropathy	940	CD28	ORPHA:3162
HP:0009830	Peripheral neuropathy	7133	TNFRSF1B	ORPHA:3162
HP:0009830	Peripheral neuropathy	55005	RMND1	OMIM:614922
HP:0009830	Peripheral neuropathy	3643	INSR	ORPHA:769
HP:0009830	Peripheral neuropathy	22930	RAB3GAP1	ORPHA:2510
HP:0009830	Peripheral neuropathy	25782	RAB3GAP2	ORPHA:2510
HP:0009830	Peripheral neuropathy	22931	RAB18	ORPHA:2510
HP:0009830	Peripheral neuropathy	128637	TBC1D20	ORPHA:2510
HP:0009830	Peripheral neuropathy	51663	ZFR	ORPHA:401840
HP:0009830	Peripheral neuropathy	1678	TIMM8A	ORPHA:52368
HP:0009830	Peripheral neuropathy	56947	MFF	OMIM:617086
HP:0009830	Peripheral neuropathy	8884	SLC5A6	OMIM:618973
HP:0009830	Peripheral neuropathy	55331	ACER3	OMIM:617762
HP:0009830	Peripheral neuropathy	8803	SUCLA2	OMIM:612073
HP:0009830	Peripheral neuropathy	367	AR	OMIM:313200
HP:0009830	Peripheral neuropathy	6342	SCP2	OMIM:613724
HP:0009830	Peripheral neuropathy	760	CA2	ORPHA:2785
HP:0009830	Peripheral neuropathy	1311	COMP	OMIM:619161
HP:0009830	Peripheral neuropathy	3423	IDS	ORPHA:217085
HP:0009830	Peripheral neuropathy	3423	IDS	ORPHA:217093
HP:0009830	Peripheral neuropathy	79158	GNPTAB	OMIM:252600
HP:0009830	Peripheral neuropathy	3425	IDUA	OMIM:607014
HP:0009830	Peripheral neuropathy	3425	IDUA	OMIM:607016
HP:0009830	Peripheral neuropathy	2778	GNAS	ORPHA:79443
HP:0009830	Peripheral neuropathy	2778	GNAS	ORPHA:79444
HP:0009830	Peripheral neuropathy	411	ARSB	OMIM:253200
HP:0003130	Abnormal peripheral myelination	2074	ERCC6	OMIM:133540
HP:0003130	Abnormal peripheral myelination	22880	MORC2	ORPHA:466768
HP:0003130	Abnormal peripheral myelination	1161	ERCC8	OMIM:216400
HP:0003130	Abnormal peripheral myelination	50846	DHH	ORPHA:168563
HP:0003130	Abnormal peripheral myelination	23769	FLRT1	ORPHA:320406
HP:0003130	Abnormal peripheral myelination	64837	KLC2	ORPHA:320406
HP:0003130	Abnormal peripheral myelination	23321	TRIM2	OMIM:615490
HP:0003130	Abnormal peripheral myelination	4358	MPV17	OMIM:256810
HP:0003130	Abnormal peripheral myelination	8139	GAN	OMIM:256850
HP:0003130	Abnormal peripheral myelination	7879	RAB7A	OMIM:600882
HP:0003130	Abnormal peripheral myelination	10743	RAI1	ORPHA:477817
HP:0003130	Abnormal peripheral myelination	56704	JPH1	OMIM:607831
HP:0003130	Abnormal peripheral myelination	54463	RETREG1	OMIM:201300
HP:0003130	Abnormal peripheral myelination	65125	WNK1	OMIM:201300
HP:0003130	Abnormal peripheral myelination	6335	SCN9A	OMIM:201300
HP:0003130	Abnormal peripheral myelination	547	KIF1A	OMIM:201300
HP:0003130	Abnormal peripheral myelination	55775	TDP1	OMIM:607250
HP:0003130	Abnormal peripheral myelination	23230	VPS13A	ORPHA:2388
HP:0003130	Abnormal peripheral myelination	1786	DNMT1	OMIM:614116
HP:0003130	Abnormal peripheral myelination	10342	TFG	OMIM:604484
HP:0003130	Abnormal peripheral myelination	80208	SPG11	OMIM:604360
HP:0003130	Abnormal peripheral myelination	91574	MTRFR	OMIM:615035
HP:0003130	Abnormal peripheral myelination	91574	MTRFR	ORPHA:320375
HP:0003130	Abnormal peripheral myelination	5631	PRPS1	OMIM:311070
HP:0003130	Abnormal peripheral myelination	10939	AFG3L2	OMIM:614487
HP:0003130	Abnormal peripheral myelination	50717	DCAF8	OMIM:610100
HP:0003130	Abnormal peripheral myelination	9639	ARHGEF10	OMIM:608236
HP:0003130	Abnormal peripheral myelination	10397	NDRG1	OMIM:601455
HP:0003130	Abnormal peripheral myelination	59345	GNB4	OMIM:615185
HP:0003130	Abnormal peripheral myelination	5375	PMP2	OMIM:618279
HP:0003130	Abnormal peripheral myelination	23095	KIF1B	OMIM:118210
HP:0003130	Abnormal peripheral myelination	2705	GJB1	OMIM:302800
HP:0003130	Abnormal peripheral myelination	64423	INF2	OMIM:614455
HP:0003130	Abnormal peripheral myelination	1337	COX6A1	OMIM:616039
HP:0003130	Abnormal peripheral myelination	84668	HYCC1	OMIM:610532
HP:0003130	Abnormal peripheral myelination	1959	EGR2	OMIM:605253
HP:0003130	Abnormal peripheral myelination	1959	EGR2	OMIM:145900
HP:0003130	Abnormal peripheral myelination	9896	FIG4	OMIM:611228
HP:0003130	Abnormal peripheral myelination	8565	YARS1	OMIM:608323
HP:0003130	Abnormal peripheral myelination	1785	DNM2	OMIM:606482
HP:0003130	Abnormal peripheral myelination	9516	LITAF	OMIM:601098
HP:0003130	Abnormal peripheral myelination	121512	FGD4	OMIM:609311
HP:0003130	Abnormal peripheral myelination	9990	SLC12A6	OMIM:218000
HP:0003130	Abnormal peripheral myelination	8729	GBF1	OMIM:606483
HP:0003130	Abnormal peripheral myelination	5428	POLG	ORPHA:298
HP:0003130	Abnormal peripheral myelination	1890	TYMP	ORPHA:298
HP:0003130	Abnormal peripheral myelination	3980	LIG3	ORPHA:298
HP:0003130	Abnormal peripheral myelination	50484	RRM2B	ORPHA:298
HP:0003130	Abnormal peripheral myelination	8518	ELP1	OMIM:223900
HP:0003130	Abnormal peripheral myelination	10558	SPTLC1	OMIM:162400
HP:0003130	Abnormal peripheral myelination	4311	MME	ORPHA:497764
HP:0003130	Abnormal peripheral myelination	87178	PNPT1	ORPHA:101111
HP:0003130	Abnormal peripheral myelination	9927	MFN2	OMIM:617087
HP:0003130	Abnormal peripheral myelination	57449	PLEKHG5	OMIM:615376
HP:0003130	Abnormal peripheral myelination	54840	APTX	OMIM:208920
HP:0003130	Abnormal peripheral myelination	4000	LMNA	ORPHA:98856
HP:0003130	Abnormal peripheral myelination	56652	TWNK	OMIM:271245
HP:0003130	Abnormal peripheral myelination	26353	HSPB8	OMIM:608673
HP:0003130	Abnormal peripheral myelination	26278	SACS	OMIM:270550
HP:0003130	Abnormal peripheral myelination	3098	HK1	OMIM:605285
HP:0003130	Abnormal peripheral myelination	79628	SH3TC2	OMIM:601596
HP:0003130	Abnormal peripheral myelination	57716	PRX	OMIM:614895
HP:0003130	Abnormal peripheral myelination	54332	GDAP1	OMIM:214400
HP:0003130	Abnormal peripheral myelination	9326	ZNHIT3	OMIM:260565
HP:0003130	Abnormal peripheral myelination	4535	MT-ND1	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4536	MT-ND2	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4537	MT-ND3	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4538	MT-ND4	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4567	MT-TL1	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4578	MT-TW	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4577	MT-TV	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4508	MT-ATP6	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4540	MT-ND5	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4541	MT-ND6	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	4566	MT-TK	ORPHA:255210
HP:0003130	Abnormal peripheral myelination	5376	PMP22	OMIM:118220
HP:0003130	Abnormal peripheral myelination	4747	NEFL	OMIM:607734
HP:0003130	Abnormal peripheral myelination	6305	SBF1	OMIM:615284
HP:0003130	Abnormal peripheral myelination	81846	SBF2	ORPHA:99956
HP:0003130	Abnormal peripheral myelination	4359	MPZ	OMIM:118200
HP:0003130	Abnormal peripheral myelination	6663	SOX10	OMIM:609136
HP:0003130	Abnormal peripheral myelination	8898	MTMR2	OMIM:601382
HP:0003130	Abnormal peripheral myelination	2639	GCDH	OMIM:231670
HP:0003130	Abnormal peripheral myelination	3766	KCNJ10	ORPHA:199343
HP:0003130	Abnormal peripheral myelination	3766	KCNJ10	OMIM:612780
HP:0003130	Abnormal peripheral myelination	9150	CTDP1	OMIM:604168
HP:0003130	Abnormal peripheral myelination	8449	DHX16	OMIM:618733
HP:0003130	Abnormal peripheral myelination	112	ADCY6	OMIM:616287
HP:0003130	Abnormal peripheral myelination	4803	NGF	ORPHA:64752
HP:0003130	Abnormal peripheral myelination	4914	NTRK1	ORPHA:64752
HP:0003130	Abnormal peripheral myelination	4914	NTRK1	OMIM:256800
HP:0003130	Abnormal peripheral myelination	4001	LMNB1	OMIM:169500
HP:0003130	Abnormal peripheral myelination	10749	KIF1C	ORPHA:397946
HP:0003130	Abnormal peripheral myelination	10128	LRPPRC	OMIM:220111
HP:0003130	Abnormal peripheral myelination	4547	MTTP	OMIM:200100
HP:0003130	Abnormal peripheral myelination	6834	SURF1	OMIM:616684
HP:0003130	Abnormal peripheral myelination	7343	UBTF	OMIM:617672
HP:0003130	Abnormal peripheral myelination	6711	SPTBN1	OMIM:619475
HP:0003130	Abnormal peripheral myelination	4337	MOCS1	OMIM:252150
HP:0003130	Abnormal peripheral myelination	19	ABCA1	OMIM:205400
HP:0003130	Abnormal peripheral myelination	25974	MMACHC	ORPHA:79282
HP:0003130	Abnormal peripheral myelination	4143	MAT1A	OMIM:250850
HP:0003130	Abnormal peripheral myelination	285362	SUMF1	OMIM:272200
HP:0003130	Abnormal peripheral myelination	5660	PSAP	OMIM:249900
HP:0003130	Abnormal peripheral myelination	5354	PLP1	ORPHA:280234
HP:0003130	Abnormal peripheral myelination	7305	TYROBP	OMIM:221770
HP:0003130	Abnormal peripheral myelination	2581	GALC	OMIM:245200
HP:0003130	Abnormal peripheral myelination	2581	GALC	ORPHA:206448
HP:0003130	Abnormal peripheral myelination	10229	COQ7	OMIM:616733
HP:0003130	Abnormal peripheral myelination	79152	FA2H	ORPHA:171629
HP:0003130	Abnormal peripheral myelination	9409	PEX16	OMIM:614877
HP:0003130	Abnormal peripheral myelination	4338	MOCS2	OMIM:252160
HP:0003130	Abnormal peripheral myelination	410	ARSA	OMIM:250100
HP:0003130	Abnormal peripheral myelination	28982	FLVCR1	OMIM:609033
HP:0003130	Abnormal peripheral myelination	57531	HACE1	ORPHA:464282
HP:0003130	Abnormal peripheral myelination	171023	ASXL1	OMIM:605039
HP:0003409	Distal sensory impairment of all modalities	10558	SPTLC1	OMIM:162400
HP:0003409	Distal sensory impairment of all modalities	3094	HINT1	ORPHA:324442
HP:0003409	Distal sensory impairment of all modalities	22948	CCT5	OMIM:256840
HP:0003409	Distal sensory impairment of all modalities	22948	CCT5	ORPHA:139578
HP:0003409	Distal sensory impairment of all modalities	9517	SPTLC2	OMIM:613640
HP:0003409	Distal sensory impairment of all modalities	81790	RNF170	OMIM:608984
HP:0003409	Distal sensory impairment of all modalities	1756	DMD	ORPHA:206546
HP:0003409	Distal sensory impairment of all modalities	9927	MFN2	OMIM:601152
HP:0003409	Distal sensory impairment of all modalities	50846	DHH	ORPHA:168563
HP:0003409	Distal sensory impairment of all modalities	4668	NAGA	OMIM:609242
HP:0003409	Distal sensory impairment of all modalities	3098	HK1	ORPHA:99953
HP:0003409	Distal sensory impairment of all modalities	51062	ATL1	OMIM:613708
HP:0000763	Sensory neuropathy	773	CACNA1A	OMIM:183086
HP:0000763	Sensory neuropathy	87178	PNPT1	ORPHA:101111
HP:0000763	Sensory neuropathy	87178	PNPT1	ORPHA:319514
HP:0000763	Sensory neuropathy	87178	PNPT1	OMIM:608703
HP:0000763	Sensory neuropathy	9150	CTDP1	ORPHA:48431
HP:0000763	Sensory neuropathy	59341	TRPV4	OMIM:606071
HP:0000763	Sensory neuropathy	55699	IARS2	OMIM:616007
HP:0000763	Sensory neuropathy	7148	TNXB	ORPHA:230839
HP:0000763	Sensory neuropathy	1786	DNMT1	ORPHA:314404
HP:0000763	Sensory neuropathy	1786	DNMT1	OMIM:614116
HP:0000763	Sensory neuropathy	1786	DNMT1	OMIM:604121
HP:0000763	Sensory neuropathy	5189	PEX1	ORPHA:3220
HP:0000763	Sensory neuropathy	5190	PEX6	ORPHA:3220
HP:0000763	Sensory neuropathy	5190	PEX6	ORPHA:95433
HP:0000763	Sensory neuropathy	1493	CTLA4	ORPHA:900
HP:0000763	Sensory neuropathy	26191	PTPN22	ORPHA:900
HP:0000763	Sensory neuropathy	3115	HLA-DPB1	ORPHA:900
HP:0000763	Sensory neuropathy	5657	PRTN3	ORPHA:900
HP:0000763	Sensory neuropathy	3113	HLA-DPA1	ORPHA:900
HP:0000763	Sensory neuropathy	2705	GJB1	ORPHA:101075
HP:0000763	Sensory neuropathy	2705	GJB1	OMIM:302800
HP:0000763	Sensory neuropathy	1776	DNASE1L3	ORPHA:36412
HP:0000763	Sensory neuropathy	7040	TGFB1	ORPHA:1328
HP:0000763	Sensory neuropathy	57679	ALS2	ORPHA:247604
HP:0000763	Sensory neuropathy	11160	ERLIN2	ORPHA:247604
HP:0000763	Sensory neuropathy	1311	COMP	OMIM:177170
HP:0000763	Sensory neuropathy	7879	RAB7A	OMIM:600882
HP:0000763	Sensory neuropathy	5631	PRPS1	ORPHA:99014
HP:0000763	Sensory neuropathy	5354	PLP1	ORPHA:99015
HP:0000763	Sensory neuropathy	724066	ATXN8	OMIM:608768
HP:0000763	Sensory neuropathy	6315	ATXN8OS	OMIM:608768
HP:0000763	Sensory neuropathy	10743	RAI1	ORPHA:477817
HP:0000763	Sensory neuropathy	100147744	RNU7-1	OMIM:619487
HP:0000763	Sensory neuropathy	23230	VPS13A	OMIM:200150
HP:0000763	Sensory neuropathy	23204	ARL6IP1	OMIM:615685
HP:0000763	Sensory neuropathy	23600	AMACR	ORPHA:79095
HP:0000763	Sensory neuropathy	10342	TFG	OMIM:604484
HP:0000763	Sensory neuropathy	1185	CLCN6	OMIM:619173
HP:0000763	Sensory neuropathy	210	ALAD	ORPHA:100924
HP:0000763	Sensory neuropathy	1384	CRAT	OMIM:617917
HP:0000763	Sensory neuropathy	85021	REPS1	OMIM:617916
HP:0000763	Sensory neuropathy	4508	MT-ATP6	ORPHA:644
HP:0000763	Sensory neuropathy	4508	MT-ATP6	OMIM:551500
HP:0000763	Sensory neuropathy	1130	LYST	ORPHA:167
HP:0000763	Sensory neuropathy	1678	TIMM8A	ORPHA:52368
HP:0000763	Sensory neuropathy	7274	TTPA	ORPHA:96
HP:0000763	Sensory neuropathy	7156	TOP3A	OMIM:618098
HP:0000763	Sensory neuropathy	667	DST	OMIM:614653
HP:0000763	Sensory neuropathy	55775	TDP1	OMIM:607250
HP:0000763	Sensory neuropathy	367	AR	OMIM:313200
HP:0000763	Sensory neuropathy	4771	NF2	ORPHA:637
HP:0000763	Sensory neuropathy	9990	SLC12A6	OMIM:218000
HP:0000763	Sensory neuropathy	9131	AIFM1	ORPHA:238329
HP:0000763	Sensory neuropathy	9131	AIFM1	OMIM:300614
HP:0000763	Sensory neuropathy	9131	AIFM1	OMIM:310490
HP:0000763	Sensory neuropathy	23646	PLD3	OMIM:617770
HP:0000763	Sensory neuropathy	23345	SYNE1	ORPHA:88644
HP:0000763	Sensory neuropathy	25923	ATL3	OMIM:615632
HP:0000763	Sensory neuropathy	4744	NEFH	OMIM:616924
HP:0000763	Sensory neuropathy	64837	KLC2	OMIM:609541
HP:0000763	Sensory neuropathy	2259	FGF14	ORPHA:98764
HP:0000763	Sensory neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0000763	Sensory neuropathy	57165	GJC2	OMIM:608804
HP:0000763	Sensory neuropathy	7084	TK2	ORPHA:254886
HP:0000763	Sensory neuropathy	3074	HEXB	ORPHA:309169
HP:0000763	Sensory neuropathy	6472	SHMT2	OMIM:619121
HP:0000763	Sensory neuropathy	63895	PIEZO2	OMIM:617146
HP:0000763	Sensory neuropathy	22880	MORC2	ORPHA:466768
HP:0000763	Sensory neuropathy	219285	SAMD9L	OMIM:619806
HP:0000763	Sensory neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0000763	Sensory neuropathy	7415	VCP	ORPHA:52430
HP:0000763	Sensory neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0000763	Sensory neuropathy	51	ACOX1	OMIM:618960
HP:0000763	Sensory neuropathy	116228	COX20	OMIM:619054
HP:0000763	Sensory neuropathy	7518	XRCC4	OMIM:616541
HP:0000763	Sensory neuropathy	1716	DGUOK	ORPHA:329314
HP:0000763	Sensory neuropathy	1509	CTSD	OMIM:610127
HP:0000763	Sensory neuropathy	823	CAPN1	OMIM:616907
HP:0000763	Sensory neuropathy	8139	GAN	OMIM:256850
HP:0000763	Sensory neuropathy	23400	ATP13A2	ORPHA:513436
HP:0000763	Sensory neuropathy	8449	DHX16	OMIM:618733
HP:0000763	Sensory neuropathy	144165	PRICKLE1	OMIM:612437
HP:0000763	Sensory neuropathy	4000	LMNA	ORPHA:98856
HP:0000763	Sensory neuropathy	2395	FXN	ORPHA:95
HP:0000763	Sensory neuropathy	4976	OPA1	OMIM:210000
HP:0000763	Sensory neuropathy	10558	SPTLC1	OMIM:162400
HP:0000763	Sensory neuropathy	3094	HINT1	ORPHA:324442
HP:0000763	Sensory neuropathy	22948	CCT5	OMIM:256840
HP:0000763	Sensory neuropathy	22948	CCT5	ORPHA:139578
HP:0000763	Sensory neuropathy	9517	SPTLC2	OMIM:613640
HP:0000763	Sensory neuropathy	81790	RNF170	OMIM:608984
HP:0000763	Sensory neuropathy	1756	DMD	ORPHA:206546
HP:0000763	Sensory neuropathy	9927	MFN2	OMIM:601152
HP:0000763	Sensory neuropathy	4668	NAGA	OMIM:609242
HP:0000763	Sensory neuropathy	3098	HK1	ORPHA:99953
HP:0000763	Sensory neuropathy	51062	ATL1	OMIM:613708
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:613662
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:607459
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:258450
HP:0000763	Sensory neuropathy	5428	POLG	ORPHA:70595
HP:0000763	Sensory neuropathy	56652	TWNK	OMIM:607459
HP:0000763	Sensory neuropathy	56652	TWNK	ORPHA:70595
HP:0000763	Sensory neuropathy	50846	DHH	ORPHA:168563
HP:0000763	Sensory neuropathy	22943	DKK1	ORPHA:268882
HP:0000763	Sensory neuropathy	200205	IBA57	ORPHA:468661
HP:0000763	Sensory neuropathy	4558	MT-TF	ORPHA:550
HP:0000763	Sensory neuropathy	4572	MT-TQ	ORPHA:550
HP:0000763	Sensory neuropathy	4512	MT-CO1	ORPHA:550
HP:0000763	Sensory neuropathy	4513	MT-CO2	ORPHA:550
HP:0000763	Sensory neuropathy	4514	MT-CO3	ORPHA:550
HP:0000763	Sensory neuropathy	4578	MT-TW	ORPHA:550
HP:0000763	Sensory neuropathy	4540	MT-ND5	ORPHA:550
HP:0000763	Sensory neuropathy	4541	MT-ND6	ORPHA:550
HP:0000763	Sensory neuropathy	4535	MT-ND1	ORPHA:550
HP:0000763	Sensory neuropathy	4538	MT-ND4	ORPHA:550
HP:0000763	Sensory neuropathy	4567	MT-TL1	ORPHA:550
HP:0000763	Sensory neuropathy	4574	MT-TS1	ORPHA:550
HP:0000763	Sensory neuropathy	4575	MT-TS2	ORPHA:550
HP:0000763	Sensory neuropathy	4564	MT-TH	ORPHA:550
HP:0000763	Sensory neuropathy	3032	HADHB	ORPHA:746
HP:0000763	Sensory neuropathy	3030	HADHA	ORPHA:746
HP:0000763	Sensory neuropathy	2934	GSN	ORPHA:85448
HP:0000763	Sensory neuropathy	80208	SPG11	OMIM:604360
HP:0003411	Proximal femoral metaphyseal irregularity	59341	TRPV4	OMIM:113500
HP:0003411	Proximal femoral metaphyseal irregularity	79848	CSPP1	ORPHA:397715
HP:0003411	Proximal femoral metaphyseal irregularity	9786	KIAA0586	ORPHA:397715
HP:0003411	Proximal femoral metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0003411	Proximal femoral metaphyseal irregularity	755	CFAP410	OMIM:602271
HP:0003411	Proximal femoral metaphyseal irregularity	51119	SBDS	OMIM:260400
HP:0003411	Proximal femoral metaphyseal irregularity	134218	DNAJC21	OMIM:260400
HP:0003411	Proximal femoral metaphyseal irregularity	6729	SRP54	OMIM:260400
HP:0002751	Kyphoscoliosis	6399	TRAPPC2	ORPHA:93284
HP:0002751	Kyphoscoliosis	9131	AIFM1	OMIM:300232
HP:0002751	Kyphoscoliosis	6834	SURF1	OMIM:616684
HP:0002751	Kyphoscoliosis	8838	CCN6	OMIM:208230
HP:0002751	Kyphoscoliosis	11284	PNKP	ORPHA:459033
HP:0002751	Kyphoscoliosis	3008	H1-4	OMIM:617537
HP:0002751	Kyphoscoliosis	1788	DNMT3A	ORPHA:404443
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:180800
HP:0002751	Kyphoscoliosis	4359	MPZ	ORPHA:3115
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:118200
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:145900
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:180800
HP:0002751	Kyphoscoliosis	5376	PMP22	ORPHA:3115
HP:0002751	Kyphoscoliosis	5376	PMP22	ORPHA:101081
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:118220
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:145900
HP:0002751	Kyphoscoliosis	79581	SLC52A2	OMIM:614707
HP:0002751	Kyphoscoliosis	9401	RECQL4	OMIM:268400
HP:0002751	Kyphoscoliosis	4784	NFIX	ORPHA:447980
HP:0002751	Kyphoscoliosis	4784	NFIX	OMIM:602535
HP:0002751	Kyphoscoliosis	54332	GDAP1	OMIM:607831
HP:0002751	Kyphoscoliosis	54332	GDAP1	OMIM:214400
HP:0002751	Kyphoscoliosis	56704	JPH1	OMIM:607831
HP:0002751	Kyphoscoliosis	1278	COL1A2	ORPHA:230851
HP:0002751	Kyphoscoliosis	65993	MRPS34	OMIM:617664
HP:0002751	Kyphoscoliosis	1855	DVL1	OMIM:616331
HP:0002751	Kyphoscoliosis	64412	GZF1	OMIM:617662
HP:0002751	Kyphoscoliosis	2137	EXTL3	OMIM:617425
HP:0002751	Kyphoscoliosis	2201	FBN2	OMIM:121050
HP:0002751	Kyphoscoliosis	3149	HMGB3	OMIM:300915
HP:0002751	Kyphoscoliosis	10847	SRCAP	ORPHA:2044
HP:0002751	Kyphoscoliosis	10847	SRCAP	OMIM:136140
HP:0002751	Kyphoscoliosis	6662	SOX9	OMIM:114290
HP:0002751	Kyphoscoliosis	10978	CLP1	OMIM:615803
HP:0002751	Kyphoscoliosis	81846	SBF2	OMIM:604563
HP:0002751	Kyphoscoliosis	81846	SBF2	ORPHA:99956
HP:0002751	Kyphoscoliosis	9382	COG1	OMIM:611209
HP:0002751	Kyphoscoliosis	9382	COG1	ORPHA:263508
HP:0002751	Kyphoscoliosis	57231	SNX14	ORPHA:397709
HP:0002751	Kyphoscoliosis	57231	SNX14	OMIM:616354
HP:0002751	Kyphoscoliosis	1763	DNA2	OMIM:615807
HP:0002751	Kyphoscoliosis	54	ACP5	OMIM:607944
HP:0002751	Kyphoscoliosis	1280	COL2A1	OMIM:616583
HP:0002751	Kyphoscoliosis	1280	COL2A1	ORPHA:85198
HP:0002751	Kyphoscoliosis	1280	COL2A1	ORPHA:93316
HP:0002751	Kyphoscoliosis	9469	CHST3	OMIM:143095
HP:0002751	Kyphoscoliosis	9469	CHST3	ORPHA:263463
HP:0002751	Kyphoscoliosis	113189	CHST14	ORPHA:2953
HP:0002751	Kyphoscoliosis	29940	DSE	ORPHA:2953
HP:0002751	Kyphoscoliosis	23545	ATP6V0A2	ORPHA:2834
HP:0002751	Kyphoscoliosis	4853	NOTCH2	OMIM:102500
HP:0002751	Kyphoscoliosis	10381	TUBB3	ORPHA:300570
HP:0002751	Kyphoscoliosis	23184	MESD	OMIM:618644
HP:0002751	Kyphoscoliosis	55858	TMEM165	OMIM:614727
HP:0002751	Kyphoscoliosis	5191	PEX7	OMIM:215100
HP:0002751	Kyphoscoliosis	57190	SELENON	ORPHA:2020
HP:0002751	Kyphoscoliosis	58	ACTA1	ORPHA:2020
HP:0002751	Kyphoscoliosis	4633	MYL2	ORPHA:2020
HP:0002751	Kyphoscoliosis	3679	ITGA7	ORPHA:2020
HP:0002751	Kyphoscoliosis	7169	TPM2	ORPHA:2020
HP:0002751	Kyphoscoliosis	7169	TPM2	OMIM:609285
HP:0002751	Kyphoscoliosis	9200	HACD1	ORPHA:2020
HP:0002751	Kyphoscoliosis	7170	TPM3	ORPHA:2020
HP:0002751	Kyphoscoliosis	51776	MAP3K20	ORPHA:2020
HP:0002751	Kyphoscoliosis	4763	NF1	ORPHA:363700
HP:0002751	Kyphoscoliosis	1303	COL12A1	OMIM:616470
HP:0002751	Kyphoscoliosis	1303	COL12A1	ORPHA:536516
HP:0002751	Kyphoscoliosis	1193	CLIC2	ORPHA:324410
HP:0002751	Kyphoscoliosis	1193	CLIC2	OMIM:300886
HP:0002751	Kyphoscoliosis	10682	EBP	ORPHA:35173
HP:0002751	Kyphoscoliosis	10682	EBP	OMIM:302960
HP:0002751	Kyphoscoliosis	60	ACTB	OMIM:607371
HP:0002751	Kyphoscoliosis	649	BMP1	OMIM:614856
HP:0002751	Kyphoscoliosis	4598	MVK	OMIM:610377
HP:0002751	Kyphoscoliosis	165	AEBP1	ORPHA:536532
HP:0002751	Kyphoscoliosis	2074	ERCC6	OMIM:214150
HP:0002751	Kyphoscoliosis	6261	RYR1	ORPHA:597
HP:0002751	Kyphoscoliosis	6261	RYR1	OMIM:619542
HP:0002751	Kyphoscoliosis	5654	HTRA1	ORPHA:199354
HP:0002751	Kyphoscoliosis	59341	TRPV4	OMIM:184252
HP:0002751	Kyphoscoliosis	59341	TRPV4	OMIM:156530
HP:0002751	Kyphoscoliosis	59341	TRPV4	ORPHA:93304
HP:0002751	Kyphoscoliosis	55131	RBM28	ORPHA:157954
HP:0002751	Kyphoscoliosis	55131	RBM28	OMIM:612079
HP:0002751	Kyphoscoliosis	8260	NAA10	OMIM:309800
HP:0002751	Kyphoscoliosis	54880	BCOR	OMIM:309800
HP:0002751	Kyphoscoliosis	63895	PIEZO2	OMIM:114300
HP:0002751	Kyphoscoliosis	9255	AIMP1	OMIM:260600
HP:0002751	Kyphoscoliosis	3845	KRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	4893	NRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	3265	HRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	6506	SLC1A2	OMIM:617105
HP:0002751	Kyphoscoliosis	84919	PPP1R15B	OMIM:616817
HP:0002751	Kyphoscoliosis	84919	PPP1R15B	ORPHA:391408
HP:0002751	Kyphoscoliosis	388015	RTL1	ORPHA:96334
HP:0002751	Kyphoscoliosis	8788	DLK1	ORPHA:96334
HP:0002751	Kyphoscoliosis	55384	MEG3	ORPHA:96334
HP:0002751	Kyphoscoliosis	2316	FLNA	OMIM:304120
HP:0002751	Kyphoscoliosis	2316	FLNA	OMIM:309350
HP:0002751	Kyphoscoliosis	51085	MLXIPL	OMIM:194050
HP:0002751	Kyphoscoliosis	2006	ELN	OMIM:194050
HP:0002751	Kyphoscoliosis	10667	FARS2	ORPHA:466722
HP:0002751	Kyphoscoliosis	11128	POLR3A	ORPHA:3455
HP:0002751	Kyphoscoliosis	10430	TMEM147	OMIM:620075
HP:0002751	Kyphoscoliosis	5373	PMM2	ORPHA:79318
HP:0002751	Kyphoscoliosis	339855	KY	ORPHA:496689
HP:0002751	Kyphoscoliosis	9147	NEMF	OMIM:619099
HP:0002751	Kyphoscoliosis	546	ATRX	OMIM:309580
HP:0002751	Kyphoscoliosis	546	ATRX	OMIM:301040
HP:0002751	Kyphoscoliosis	6611	SMS	OMIM:309583
HP:0002751	Kyphoscoliosis	6611	SMS	ORPHA:3063
HP:0002751	Kyphoscoliosis	7317	UBA1	ORPHA:1145
HP:0002751	Kyphoscoliosis	3339	HSPG2	OMIM:255800
HP:0002751	Kyphoscoliosis	60681	FKBP10	OMIM:610968
HP:0002751	Kyphoscoliosis	4313	MMP2	OMIM:259600
HP:0002751	Kyphoscoliosis	6567	SLC16A2	ORPHA:59
HP:0002751	Kyphoscoliosis	5832	ALDH18A1	ORPHA:447760
HP:0002751	Kyphoscoliosis	10397	NDRG1	ORPHA:99950
HP:0002751	Kyphoscoliosis	10397	NDRG1	OMIM:601455
HP:0002751	Kyphoscoliosis	5781	PTPN11	OMIM:151100
HP:0002751	Kyphoscoliosis	5781	PTPN11	OMIM:163950
HP:0002751	Kyphoscoliosis	91252	SLC39A13	OMIM:612350
HP:0002751	Kyphoscoliosis	9894	TELO2	OMIM:616954
HP:0002751	Kyphoscoliosis	9894	TELO2	ORPHA:488642
HP:0002751	Kyphoscoliosis	2744	GLS	OMIM:618339
HP:0002751	Kyphoscoliosis	196528	ARID2	OMIM:617808
HP:0002751	Kyphoscoliosis	1959	EGR2	OMIM:145900
HP:0002751	Kyphoscoliosis	57716	PRX	OMIM:145900
HP:0002751	Kyphoscoliosis	23111	SPART	OMIM:275900
HP:0002751	Kyphoscoliosis	5351	PLOD1	OMIM:225400
HP:0002751	Kyphoscoliosis	579	NKX3-2	OMIM:613330
HP:0002751	Kyphoscoliosis	57122	NUP107	OMIM:618348
HP:0002751	Kyphoscoliosis	50814	NSDHL	ORPHA:251383
HP:0002751	Kyphoscoliosis	411	ARSB	OMIM:253200
HP:0002751	Kyphoscoliosis	9150	CTDP1	OMIM:604168
HP:0002751	Kyphoscoliosis	4722	NDUFS3	OMIM:618230
HP:0002751	Kyphoscoliosis	55033	FKBP14	OMIM:614557
HP:0002751	Kyphoscoliosis	55033	FKBP14	ORPHA:300179
HP:0002751	Kyphoscoliosis	4041	LRP5	OMIM:259770
HP:0002751	Kyphoscoliosis	3736	KCNA1	ORPHA:37612
HP:0002751	Kyphoscoliosis	2068	ERCC2	OMIM:610756
HP:0002751	Kyphoscoliosis	10683	DLL3	OMIM:277300
HP:0002751	Kyphoscoliosis	145873	MESP2	OMIM:277300
HP:0002751	Kyphoscoliosis	2067	ERCC1	OMIM:610758
HP:0002751	Kyphoscoliosis	4204	MECP2	OMIM:300055
HP:0002751	Kyphoscoliosis	4204	MECP2	ORPHA:3077
HP:0002751	Kyphoscoliosis	8925	HERC1	ORPHA:457359
HP:0002751	Kyphoscoliosis	4621	MYH3	OMIM:193700
HP:0002751	Kyphoscoliosis	22930	RAB3GAP1	OMIM:600118
HP:0002751	Kyphoscoliosis	2530	FUT8	OMIM:618005
HP:0002751	Kyphoscoliosis	2200	FBN1	OMIM:154700
HP:0002751	Kyphoscoliosis	84068	SLC10A7	OMIM:618363
HP:0002751	Kyphoscoliosis	23345	SYNE1	OMIM:618484
HP:0002751	Kyphoscoliosis	182	JAG1	OMIM:619574
HP:0002751	Kyphoscoliosis	7965	AIMP2	OMIM:618006
HP:0002751	Kyphoscoliosis	92344	GORAB	OMIM:231070
HP:0002751	Kyphoscoliosis	6678	SPARC	OMIM:616507
HP:0002751	Kyphoscoliosis	25778	DSTYK	ORPHA:101003
HP:0002751	Kyphoscoliosis	4547	MTTP	ORPHA:14
HP:0002751	Kyphoscoliosis	80185	TTI2	OMIM:615541
HP:0002751	Kyphoscoliosis	80185	TTI2	ORPHA:391307
HP:0002751	Kyphoscoliosis	84896	ATAD1	OMIM:618011
HP:0002751	Kyphoscoliosis	51715	RAB23	ORPHA:65759
HP:0002751	Kyphoscoliosis	1954	MEGF8	ORPHA:65759
HP:0002751	Kyphoscoliosis	79147	FKRP	ORPHA:370980
HP:0002751	Kyphoscoliosis	2218	FKTN	ORPHA:370980
HP:0002751	Kyphoscoliosis	729920	CRPPA	ORPHA:370980
HP:0002751	Kyphoscoliosis	10585	POMT1	ORPHA:370980
HP:0002751	Kyphoscoliosis	9244	CRLF1	OMIM:272430
HP:0002751	Kyphoscoliosis	26040	SETBP1	ORPHA:798
HP:0002751	Kyphoscoliosis	5727	PTCH1	OMIM:109400
HP:0002751	Kyphoscoliosis	11285	B4GALT7	ORPHA:75496
HP:0002751	Kyphoscoliosis	3835	KIF22	ORPHA:93360
HP:0002751	Kyphoscoliosis	4000	LMNA	OMIM:605588
HP:0002751	Kyphoscoliosis	1861	TOR1A	OMIM:618947
HP:0002751	Kyphoscoliosis	23233	EXOC6B	ORPHA:93359
HP:0002751	Kyphoscoliosis	126792	B3GALT6	ORPHA:93359
HP:0002751	Kyphoscoliosis	126792	B3GALT6	OMIM:271640
HP:0002751	Kyphoscoliosis	126792	B3GALT6	ORPHA:536467
HP:0002751	Kyphoscoliosis	126792	B3GALT6	OMIM:615349
HP:0002751	Kyphoscoliosis	22931	RAB18	OMIM:614222
HP:0002751	Kyphoscoliosis	4659	PPP1R12A	OMIM:618820
HP:0002751	Kyphoscoliosis	10382	TUBB4A	ORPHA:98805
HP:0002751	Kyphoscoliosis	56270	WDR45B	OMIM:617977
HP:0002751	Kyphoscoliosis	9060	PAPSS2	OMIM:612847
HP:0002751	Kyphoscoliosis	4796	TONSL	ORPHA:93357
HP:0002751	Kyphoscoliosis	4796	TONSL	OMIM:271510
HP:0002751	Kyphoscoliosis	1836	SLC26A2	OMIM:222600
HP:0002751	Kyphoscoliosis	285590	SH3PXD2B	OMIM:249420
HP:0002751	Kyphoscoliosis	4841	NONO	OMIM:300967
HP:0002751	Kyphoscoliosis	4841	NONO	ORPHA:466791
HP:0002751	Kyphoscoliosis	6197	RPS6KA3	OMIM:300844
HP:0002751	Kyphoscoliosis	207	AKT1	OMIM:176920
HP:0002751	Kyphoscoliosis	60482	SLC5A7	ORPHA:98914
HP:0002751	Kyphoscoliosis	4649	MYO9A	ORPHA:98914
HP:0002751	Kyphoscoliosis	1305	COL13A1	ORPHA:98914
HP:0002751	Kyphoscoliosis	1103	CHAT	ORPHA:98914
HP:0002751	Kyphoscoliosis	6576	SLC25A1	ORPHA:98914
HP:0002751	Kyphoscoliosis	6843	VAMP1	ORPHA:98914
HP:0002751	Kyphoscoliosis	375790	AGRN	ORPHA:98914
HP:0002751	Kyphoscoliosis	127833	SYT2	ORPHA:98914
HP:0002751	Kyphoscoliosis	6572	SLC18A3	ORPHA:98914
HP:0002751	Kyphoscoliosis	6616	SNAP25	ORPHA:98914
HP:0002751	Kyphoscoliosis	55717	WDR11	OMIM:620237
HP:0002751	Kyphoscoliosis	93587	TRMT10A	ORPHA:391408
HP:0002751	Kyphoscoliosis	2273	FHL1	OMIM:300280
HP:0002751	Kyphoscoliosis	6651	SON	ORPHA:500150
HP:0002751	Kyphoscoliosis	89970	RSPRY1	ORPHA:457395
HP:0002751	Kyphoscoliosis	80208	SPG11	OMIM:616668
HP:0002751	Kyphoscoliosis	1073	CFL2	OMIM:610687
HP:0002751	Kyphoscoliosis	138050	HGSNAT	OMIM:252930
HP:0002751	Kyphoscoliosis	875	CBS	OMIM:236200
HP:0002751	Kyphoscoliosis	10269	ZMPSTE24	OMIM:275210
HP:0002751	Kyphoscoliosis	3908	LAMA2	OMIM:607855
HP:0002751	Kyphoscoliosis	7043	TGFB3	OMIM:615582
HP:0002751	Kyphoscoliosis	4137	MAPT	OMIM:260540
HP:0002751	Kyphoscoliosis	523	ATP6V1A	OMIM:617403
HP:0002751	Kyphoscoliosis	529	ATP6V1E1	OMIM:617402
HP:0002751	Kyphoscoliosis	26123	TCTN3	OMIM:614815
HP:0002751	Kyphoscoliosis	8517	IKBKG	OMIM:308300
HP:0002751	Kyphoscoliosis	246329	STAC3	OMIM:255995
HP:0002751	Kyphoscoliosis	5604	MAP2K1	OMIM:163950
HP:0002751	Kyphoscoliosis	673	BRAF	OMIM:163950
HP:0002751	Kyphoscoliosis	1009	CDH11	ORPHA:1299
HP:0002751	Kyphoscoliosis	25871	NEPRO	OMIM:618853
HP:0002751	Kyphoscoliosis	10940	POP1	OMIM:617396
HP:0002751	Kyphoscoliosis	4247	MGAT2	OMIM:212066
HP:0002751	Kyphoscoliosis	8022	LHX3	ORPHA:231720
HP:0002751	Kyphoscoliosis	79158	GNPTAB	OMIM:252500
HP:0002751	Kyphoscoliosis	10533	ATG7	OMIM:619422
HP:0003413	Atlantoaxial abnormality	11128	POLR3A	ORPHA:3455
HP:0003413	Atlantoaxial abnormality	113189	CHST14	ORPHA:2953
HP:0003413	Atlantoaxial abnormality	29940	DSE	ORPHA:2953
HP:0003413	Atlantoaxial abnormality	1311	COMP	OMIM:177170
HP:0003413	Atlantoaxial abnormality	6023	RMRP	OMIM:607095
HP:0003413	Atlantoaxial abnormality	4784	NFIX	OMIM:602535
HP:0003413	Atlantoaxial abnormality	79158	GNPTAB	OMIM:252500
HP:0003413	Atlantoaxial abnormality	4921	DDR2	OMIM:271665
HP:0003413	Atlantoaxial abnormality	54808	DYM	OMIM:607326
HP:0003413	Atlantoaxial abnormality	54808	DYM	ORPHA:239
HP:0003413	Atlantoaxial abnormality	55033	FKBP14	OMIM:614557
HP:0003413	Atlantoaxial abnormality	1280	COL2A1	OMIM:183900
HP:0003413	Atlantoaxial abnormality	2623	GATA1	OMIM:190685
HP:0003413	Atlantoaxial abnormality	415	ARSL	ORPHA:79345
HP:0003413	Atlantoaxial abnormality	126792	B3GALT6	ORPHA:536467
HP:0003414	Atlantoaxial dislocation	113189	CHST14	ORPHA:2953
HP:0003414	Atlantoaxial dislocation	29940	DSE	ORPHA:2953
HP:0003414	Atlantoaxial dislocation	1311	COMP	OMIM:177170
HP:0003414	Atlantoaxial dislocation	6023	RMRP	OMIM:607095
HP:0003414	Atlantoaxial dislocation	4784	NFIX	OMIM:602535
HP:0003414	Atlantoaxial dislocation	79158	GNPTAB	OMIM:252500
HP:0003414	Atlantoaxial dislocation	126792	B3GALT6	ORPHA:536467
HP:0003416	Spinal canal stenosis	5573	PRKAR1A	ORPHA:950
HP:0003416	Spinal canal stenosis	5573	PRKAR1A	ORPHA:280651
HP:0003416	Spinal canal stenosis	5573	PRKAR1A	OMIM:101800
HP:0003416	Spinal canal stenosis	5144	PDE4D	ORPHA:950
HP:0003416	Spinal canal stenosis	5144	PDE4D	ORPHA:280651
HP:0003416	Spinal canal stenosis	5144	PDE4D	OMIM:614613
HP:0003416	Spinal canal stenosis	5251	PHEX	OMIM:307800
HP:0003416	Spinal canal stenosis	84905	ZNF341	OMIM:618282
HP:0003416	Spinal canal stenosis	1758	DMP1	ORPHA:289176
HP:0003416	Spinal canal stenosis	5167	ENPP1	ORPHA:289176
HP:0003416	Spinal canal stenosis	134701	RIPPLY2	OMIM:616566
HP:0003416	Spinal canal stenosis	3423	IDS	ORPHA:217085
HP:0003416	Spinal canal stenosis	3423	IDS	ORPHA:217093
HP:0003416	Spinal canal stenosis	22800	RRAS2	OMIM:618624
HP:0003416	Spinal canal stenosis	5590	PRKCZ	ORPHA:1606
HP:0003416	Spinal canal stenosis	2563	GABRD	ORPHA:1606
HP:0003416	Spinal canal stenosis	23013	SPEN	ORPHA:1606
HP:0003416	Spinal canal stenosis	8510	MMP23B	ORPHA:1606
HP:0003416	Spinal canal stenosis	7798	LUZP1	ORPHA:1606
HP:0003416	Spinal canal stenosis	6497	SKI	ORPHA:1606
HP:0003416	Spinal canal stenosis	10630	PDPN	ORPHA:1606
HP:0003416	Spinal canal stenosis	3339	HSPG2	ORPHA:1606
HP:0003416	Spinal canal stenosis	10277	UBE4B	ORPHA:1606
HP:0003416	Spinal canal stenosis	8514	KCNAB2	ORPHA:1606
HP:0003416	Spinal canal stenosis	473	RERE	ORPHA:1606
HP:0003416	Spinal canal stenosis	63976	PRDM16	ORPHA:1606
HP:0003416	Spinal canal stenosis	54897	CASZ1	ORPHA:1606
HP:0003416	Spinal canal stenosis	3425	IDUA	ORPHA:93473
HP:0003416	Spinal canal stenosis	3425	IDUA	ORPHA:93476
HP:0003416	Spinal canal stenosis	83550	GPR101	ORPHA:963
HP:0003416	Spinal canal stenosis	9049	AIP	ORPHA:963
HP:0003416	Spinal canal stenosis	9241	NOG	OMIM:186500
HP:0003416	Spinal canal stenosis	2200	FBN1	OMIM:608328
HP:0003416	Spinal canal stenosis	207	AKT1	OMIM:176920
HP:0003416	Spinal canal stenosis	7276	TTR	ORPHA:85451
HP:0003416	Spinal canal stenosis	6905	TBCE	ORPHA:2323
HP:0003416	Spinal canal stenosis	81794	ADAMTS10	OMIM:277600
HP:0003416	Spinal canal stenosis	2261	FGFR3	OMIM:100800
HP:0003416	Spinal canal stenosis	2137	EXTL3	ORPHA:508533
HP:0003416	Spinal canal stenosis	55699	IARS2	OMIM:616007
HP:0003416	Spinal canal stenosis	55699	IARS2	ORPHA:436174
HP:0003416	Spinal canal stenosis	79848	CSPP1	ORPHA:397715
HP:0003416	Spinal canal stenosis	9786	KIAA0586	ORPHA:397715
HP:0003416	Spinal canal stenosis	4621	MYH3	OMIM:178110
HP:0003416	Spinal canal stenosis	284058	KANSL1	ORPHA:363965
HP:0003416	Spinal canal stenosis	284058	KANSL1	ORPHA:363958
HP:0003416	Spinal canal stenosis	84295	PHF6	OMIM:301900
HP:0003416	Spinal canal stenosis	80036	TRPM3	OMIM:620224
HP:0003416	Spinal canal stenosis	4773	NFATC2	OMIM:620232
HP:0003416	Spinal canal stenosis	415	ARSL	ORPHA:79345
HP:0003417	Coronal cleft vertebrae	9361	LONP1	OMIM:600373
HP:0003417	Coronal cleft vertebrae	9361	LONP1	ORPHA:1458
HP:0003417	Coronal cleft vertebrae	1836	SLC26A2	OMIM:256050
HP:0003417	Coronal cleft vertebrae	84068	SLC10A7	OMIM:618363
HP:0003417	Coronal cleft vertebrae	9469	CHST3	OMIM:143095
HP:0003417	Coronal cleft vertebrae	55699	IARS2	OMIM:616007
HP:0003417	Coronal cleft vertebrae	8854	ALDH1A2	OMIM:620025
HP:0003417	Coronal cleft vertebrae	3339	HSPG2	OMIM:255800
HP:0003417	Coronal cleft vertebrae	1302	COL11A2	ORPHA:1427
HP:0003417	Coronal cleft vertebrae	1302	COL11A2	OMIM:215150
HP:0003417	Coronal cleft vertebrae	59341	TRPV4	ORPHA:93314
HP:0003417	Coronal cleft vertebrae	415	ARSL	ORPHA:79345
HP:0003417	Coronal cleft vertebrae	5191	PEX7	OMIM:215100
HP:0003417	Coronal cleft vertebrae	2317	FLNB	OMIM:108720
HP:0003417	Coronal cleft vertebrae	2317	FLNB	ORPHA:56305
HP:0003417	Coronal cleft vertebrae	2317	FLNB	ORPHA:1190
HP:0003417	Coronal cleft vertebrae	1280	COL2A1	ORPHA:485
HP:0003417	Coronal cleft vertebrae	1280	COL2A1	OMIM:156550
HP:0003417	Coronal cleft vertebrae	8443	GNPAT	OMIM:222765
HP:0003417	Coronal cleft vertebrae	9321	TRIP11	OMIM:184260
HP:0003417	Coronal cleft vertebrae	55790	CSGALNACT1	OMIM:618870
HP:0003417	Coronal cleft vertebrae	3313	HSPA9	OMIM:616854
HP:0003417	Coronal cleft vertebrae	3911	LAMA5	OMIM:620076
HP:0003418	Back pain	6399	TRAPPC2	ORPHA:93284
HP:0003418	Back pain	6399	TRAPPC2	OMIM:313400
HP:0003418	Back pain	10312	TCIRG1	ORPHA:210110
HP:0003418	Back pain	1186	CLCN7	ORPHA:210110
HP:0003418	Back pain	9842	PLEKHM1	ORPHA:210110
HP:0003418	Back pain	84265	POLR3GL	OMIM:619234
HP:0003418	Back pain	579	NKX3-2	OMIM:613330
HP:0003418	Back pain	6711	SPTBN1	OMIM:619475
HP:0003418	Back pain	4010	LMX1B	ORPHA:2614
HP:0003418	Back pain	4010	LMX1B	OMIM:161200
HP:0003418	Back pain	540	ATP7B	ORPHA:905
HP:0003418	Back pain	8314	BAP1	ORPHA:2495
HP:0003418	Back pain	4771	NF2	ORPHA:2495
HP:0003418	Back pain	6598	SMARCB1	ORPHA:2495
HP:0003418	Back pain	5155	PDGFB	ORPHA:2495
HP:0003418	Back pain	84231	TRAF7	ORPHA:2495
HP:0003418	Back pain	6608	SMO	ORPHA:2495
HP:0003418	Back pain	207	AKT1	ORPHA:2495
HP:0003418	Back pain	5290	PIK3CA	ORPHA:2495
HP:0003418	Back pain	7015	TERT	ORPHA:2495
HP:0003418	Back pain	51684	SUFU	ORPHA:2495
HP:0003418	Back pain	6605	SMARCE1	ORPHA:2495
HP:0003418	Back pain	7415	VCP	OMIM:167320
HP:0003418	Back pain	7415	VCP	ORPHA:329478
HP:0003418	Back pain	5589	PRKCSH	OMIM:174050
HP:0003418	Back pain	5589	PRKCSH	ORPHA:2924
HP:0003418	Back pain	56606	SLC2A9	ORPHA:94088
HP:0003418	Back pain	116085	SLC22A12	ORPHA:94088
HP:0003418	Back pain	4148	MATN3	ORPHA:93311
HP:0003418	Back pain	3075	CFH	ORPHA:244242
HP:0003418	Back pain	3426	CFI	ORPHA:244242
HP:0003418	Back pain	4179	CD46	ORPHA:244242
HP:0003418	Back pain	101101692	HELLPAR	ORPHA:244242
HP:0003418	Back pain	11231	SEC63	ORPHA:2924
HP:0003418	Back pain	4041	LRP5	ORPHA:2924
HP:0003418	Back pain	10683	DLL3	OMIM:277300
HP:0003418	Back pain	145873	MESP2	OMIM:277300
HP:0003418	Back pain	7428	VHL	ORPHA:892
HP:0003418	Back pain	595	CCND1	ORPHA:892
HP:0003418	Back pain	2273	FHL1	OMIM:300696
HP:0003418	Back pain	2273	FHL1	ORPHA:98863
HP:0003418	Back pain	215	ABCD1	ORPHA:139399
HP:0003418	Back pain	5921	RASA1	ORPHA:90307
HP:0003418	Back pain	825	CAPN3	OMIM:618129
HP:0003418	Back pain	2010	EMD	ORPHA:98863
HP:0003418	Back pain	3106	HLA-B	OMIM:106300
HP:0003418	Back pain	81839	VANGL1	OMIM:600145
HP:0003418	Back pain	672	BRCA1	ORPHA:1333
HP:0003418	Back pain	285282	RABL3	ORPHA:1333
HP:0003418	Back pain	7157	TP53	ORPHA:1333
HP:0003418	Back pain	675	BRCA2	ORPHA:1333
HP:0003418	Back pain	3845	KRAS	ORPHA:1333
HP:0003418	Back pain	1029	CDKN2A	ORPHA:1333
HP:0003418	Back pain	79728	PALB2	ORPHA:1333
HP:0003418	Back pain	4089	SMAD4	ORPHA:1333
HP:0003418	Back pain	23022	PALLD	ORPHA:1333
HP:0003418	Back pain	1371	CPOX	ORPHA:79273
HP:0003418	Back pain	9096	TBX18	OMIM:143400
HP:0003418	Back pain	4000	LMNA	ORPHA:98855
HP:0003418	Back pain	4000	LMNA	ORPHA:98853
HP:0003418	Back pain	5498	PPOX	ORPHA:79473
HP:0003418	Back pain	3145	HMBS	ORPHA:79276
HP:0003418	Back pain	2313	FLI1	ORPHA:370348
HP:0003418	Back pain	79188	TMEM43	ORPHA:98853
HP:0003418	Back pain	23345	SYNE1	ORPHA:98853
HP:0003418	Back pain	23224	SYNE2	ORPHA:98853
HP:0003418	Back pain	5654	HTRA1	OMIM:600142
HP:0003418	Back pain	9897	WASHC5	OMIM:603563
HP:0003418	Back pain	4665	NAB2	ORPHA:2126
HP:0003418	Back pain	6778	STAT6	ORPHA:2126
HP:0003418	Back pain	311	ANXA11	OMIM:619733
HP:0003418	Back pain	3081	HGD	OMIM:203500
HP:0003418	Back pain	6683	SPAST	OMIM:182601
HP:0003418	Back pain	7486	WRN	OMIM:277700
HP:0003418	Back pain	4803	NGF	OMIM:608654
HP:0003418	Back pain	1280	COL2A1	ORPHA:166011
HP:0003418	Back pain	6911	TBX6	OMIM:122600
HP:0003418	Back pain	84188	FAR1	ORPHA:447753
HP:0003418	Back pain	5832	ALDH18A1	ORPHA:447753
HP:0003419	Low back pain	5654	HTRA1	OMIM:600142
HP:0003419	Low back pain	9897	WASHC5	OMIM:603563
HP:0003419	Low back pain	4665	NAB2	ORPHA:2126
HP:0003419	Low back pain	6778	STAT6	ORPHA:2126
HP:0003419	Low back pain	311	ANXA11	OMIM:619733
HP:0003419	Low back pain	3081	HGD	OMIM:203500
HP:0003419	Low back pain	6683	SPAST	OMIM:182601
HP:0003419	Low back pain	7486	WRN	OMIM:277700
HP:0003419	Low back pain	4803	NGF	OMIM:608654
HP:0003419	Low back pain	1280	COL2A1	ORPHA:166011
HP:0003419	Low back pain	6911	TBX6	OMIM:122600
HP:0003419	Low back pain	84188	FAR1	ORPHA:447753
HP:0003419	Low back pain	5832	ALDH18A1	ORPHA:447753
HP:0003422	Vertebral segmentation defect	2737	GLI3	ORPHA:672
HP:0003422	Vertebral segmentation defect	2737	GLI3	OMIM:146510
HP:0003422	Vertebral segmentation defect	2737	GLI3	ORPHA:93322
HP:0003422	Vertebral segmentation defect	9791	PTDSS1	OMIM:151050
HP:0003422	Vertebral segmentation defect	5447	POR	OMIM:201750
HP:0003422	Vertebral segmentation defect	6909	TBX2	OMIM:618223
HP:0003422	Vertebral segmentation defect	8558	CDK10	OMIM:617694
HP:0003422	Vertebral segmentation defect	145173	B3GLCT	OMIM:261540
HP:0003422	Vertebral segmentation defect	1857	DVL3	ORPHA:3107
HP:0003422	Vertebral segmentation defect	7474	WNT5A	ORPHA:3107
HP:0003422	Vertebral segmentation defect	1855	DVL1	ORPHA:3107
HP:0003422	Vertebral segmentation defect	2535	FZD2	ORPHA:3107
HP:0003422	Vertebral segmentation defect	5885	RAD21	OMIM:614701
HP:0003422	Vertebral segmentation defect	6650	CAPN15	OMIM:619318
HP:0003422	Vertebral segmentation defect	10992	SF3B2	OMIM:164210
HP:0003422	Vertebral segmentation defect	546	ATRX	OMIM:301040
HP:0003422	Vertebral segmentation defect	526	ATP6V1B2	ORPHA:79500
HP:0003422	Vertebral segmentation defect	57465	TBC1D24	ORPHA:79500
HP:0003422	Vertebral segmentation defect	6651	SON	OMIM:617140
HP:0003422	Vertebral segmentation defect	6651	SON	ORPHA:500150
HP:0003422	Vertebral segmentation defect	8085	KMT2D	ORPHA:2322
HP:0003422	Vertebral segmentation defect	7403	KDM6A	ORPHA:2322
HP:0003422	Vertebral segmentation defect	182	JAG1	OMIM:118450
HP:0003422	Vertebral segmentation defect	388015	RTL1	ORPHA:96334
HP:0003422	Vertebral segmentation defect	8788	DLK1	ORPHA:96334
HP:0003422	Vertebral segmentation defect	55384	MEG3	ORPHA:96334
HP:0003422	Vertebral segmentation defect	55636	CHD7	ORPHA:138
HP:0003422	Vertebral segmentation defect	55636	CHD7	OMIM:214800
HP:0003422	Vertebral segmentation defect	9723	SEMA3E	ORPHA:138
HP:0003422	Vertebral segmentation defect	2187	FANCB	ORPHA:3412
HP:0003422	Vertebral segmentation defect	5727	PTCH1	ORPHA:377
HP:0003422	Vertebral segmentation defect	5727	PTCH1	OMIM:109400
HP:0003422	Vertebral segmentation defect	8643	PTCH2	ORPHA:377
HP:0003422	Vertebral segmentation defect	51684	SUFU	ORPHA:377
HP:0003422	Vertebral segmentation defect	6657	SOX2	ORPHA:77298
HP:0003422	Vertebral segmentation defect	6657	SOX2	OMIM:206900
HP:0003422	Vertebral segmentation defect	9897	WASHC5	OMIM:220210
HP:0003422	Vertebral segmentation defect	9897	WASHC5	ORPHA:7
HP:0003422	Vertebral segmentation defect	55777	MBD5	OMIM:156200
HP:0003422	Vertebral segmentation defect	4998	ORC1	OMIM:224690
HP:0003422	Vertebral segmentation defect	51360	MBTPS2	ORPHA:85284
HP:0003422	Vertebral segmentation defect	7476	WNT7A	OMIM:276820
HP:0003422	Vertebral segmentation defect	28952	CCDC22	ORPHA:7
HP:0003422	Vertebral segmentation defect	10682	EBP	OMIM:302960
HP:0003422	Vertebral segmentation defect	26175	LYSET	OMIM:619345
HP:0003422	Vertebral segmentation defect	8517	IKBKG	OMIM:308300
HP:0003422	Vertebral segmentation defect	4990	SIX6	OMIM:206900
HP:0003422	Vertebral segmentation defect	4038	LRP4	OMIM:212780
HP:0003422	Vertebral segmentation defect	6660	SOX5	ORPHA:313892
HP:0003422	Vertebral segmentation defect	79147	FKRP	OMIM:606612
HP:0003422	Vertebral segmentation defect	79147	FKRP	OMIM:607155
HP:0003422	Vertebral segmentation defect	2335	FN1	ORPHA:93315
HP:0003422	Vertebral segmentation defect	29123	ANKRD11	ORPHA:2332
HP:0003422	Vertebral segmentation defect	29123	ANKRD11	OMIM:148050
HP:0003422	Vertebral segmentation defect	284058	KANSL1	OMIM:610443
HP:0003422	Vertebral segmentation defect	3081	HGD	OMIM:203500
HP:0003422	Vertebral segmentation defect	4089	SMAD4	OMIM:139210
HP:0003422	Vertebral segmentation defect	4854	NOTCH3	OMIM:130720
HP:0003422	Vertebral segmentation defect	1144	CHRND	OMIM:253290
HP:0003422	Vertebral segmentation defect	1134	CHRNA1	OMIM:253290
HP:0003422	Vertebral segmentation defect	8200	GDF5	OMIM:610017
HP:0003422	Vertebral segmentation defect	53834	FGFRL1	OMIM:194190
HP:0003422	Vertebral segmentation defect	1487	CTBP1	OMIM:194190
HP:0003422	Vertebral segmentation defect	3954	LETM1	OMIM:194190
HP:0003422	Vertebral segmentation defect	7468	NSD2	OMIM:194190
HP:0003422	Vertebral segmentation defect	10815	CPLX1	OMIM:194190
HP:0003422	Vertebral segmentation defect	5888	RAD51	ORPHA:238722
HP:0003422	Vertebral segmentation defect	10126	DNAL4	ORPHA:238722
HP:0003422	Vertebral segmentation defect	9423	NTN1	ORPHA:238722
HP:0003422	Vertebral segmentation defect	1630	DCC	ORPHA:238722
HP:0003422	Vertebral segmentation defect	5167	ENPP1	ORPHA:51608
HP:0003422	Vertebral segmentation defect	368	ABCC6	ORPHA:51608
HP:0003422	Vertebral segmentation defect	22943	DKK1	ORPHA:268882
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	OMIM:617137
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	ORPHA:1826
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	OMIM:157800
HP:0003422	Vertebral segmentation defect	1108	CHD4	OMIM:617159
HP:0003422	Vertebral segmentation defect	9939	RBM8A	ORPHA:3320
HP:0003422	Vertebral segmentation defect	9939	RBM8A	OMIM:274000
HP:0003422	Vertebral segmentation defect	9241	NOG	OMIM:184460
HP:0003422	Vertebral segmentation defect	55215	FANCI	OMIM:609053
HP:0003422	Vertebral segmentation defect	3557	IL1RN	OMIM:612852
HP:0003422	Vertebral segmentation defect	51729	WBP11	OMIM:619227
HP:0003422	Vertebral segmentation defect	7547	ZIC3	OMIM:306955
HP:0003422	Vertebral segmentation defect	341640	FREM2	ORPHA:2052
HP:0003422	Vertebral segmentation defect	80144	FRAS1	ORPHA:2052
HP:0003422	Vertebral segmentation defect	23426	GRIP1	ORPHA:2052
HP:0003422	Vertebral segmentation defect	3265	HRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	3845	KRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	4893	NRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	54361	WNT4	ORPHA:3109
HP:0003422	Vertebral segmentation defect	6804	STX1A	ORPHA:904
HP:0003422	Vertebral segmentation defect	7461	CLIP2	ORPHA:904
HP:0003422	Vertebral segmentation defect	84277	DNAJC30	ORPHA:904
HP:0003422	Vertebral segmentation defect	8468	FKBP6	ORPHA:904
HP:0003422	Vertebral segmentation defect	5982	RFC2	ORPHA:904
HP:0003422	Vertebral segmentation defect	2969	GTF2I	ORPHA:904
HP:0003422	Vertebral segmentation defect	3984	LIMK1	ORPHA:904
HP:0003422	Vertebral segmentation defect	9569	GTF2IRD1	ORPHA:904
HP:0003422	Vertebral segmentation defect	155382	VPS37D	ORPHA:904
HP:0003422	Vertebral segmentation defect	155368	METTL27	ORPHA:904
HP:0003422	Vertebral segmentation defect	114049	BUD23	ORPHA:904
HP:0003422	Vertebral segmentation defect	7458	EIF4H	ORPHA:904
HP:0003422	Vertebral segmentation defect	84163	GTF2IRD2	ORPHA:904
HP:0003422	Vertebral segmentation defect	9275	BCL7B	ORPHA:904
HP:0003422	Vertebral segmentation defect	26608	TBL2	ORPHA:904
HP:0003422	Vertebral segmentation defect	653361	NCF1	ORPHA:904
HP:0003422	Vertebral segmentation defect	135886	TMEM270	ORPHA:904
HP:0003422	Vertebral segmentation defect	51085	MLXIPL	ORPHA:904
HP:0003422	Vertebral segmentation defect	9031	BAZ1B	ORPHA:904
HP:0003422	Vertebral segmentation defect	2006	ELN	ORPHA:904
HP:0003422	Vertebral segmentation defect	1131	CHRM3	ORPHA:2970
HP:0003422	Vertebral segmentation defect	2317	FLNB	ORPHA:503
HP:0003422	Vertebral segmentation defect	2317	FLNB	OMIM:272460
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	ORPHA:453504
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	OMIM:616580
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	ORPHA:352665
HP:0003422	Vertebral segmentation defect	3955	LFNG	OMIM:609813
HP:0003422	Vertebral segmentation defect	3955	LFNG	ORPHA:2311
HP:0003422	Vertebral segmentation defect	8318	CDC45	OMIM:617063
HP:0003422	Vertebral segmentation defect	8942	KYNU	OMIM:617661
HP:0003422	Vertebral segmentation defect	6911	TBX6	ORPHA:1797
HP:0003422	Vertebral segmentation defect	54499	TMCO1	ORPHA:1394
HP:0003422	Vertebral segmentation defect	10683	DLL3	OMIM:277300
HP:0003422	Vertebral segmentation defect	10683	DLL3	ORPHA:2311
HP:0003422	Vertebral segmentation defect	145873	MESP2	OMIM:277300
HP:0003422	Vertebral segmentation defect	145873	MESP2	OMIM:608681
HP:0003422	Vertebral segmentation defect	145873	MESP2	ORPHA:2311
HP:0003422	Vertebral segmentation defect	9382	COG1	OMIM:611209
HP:0003422	Vertebral segmentation defect	9382	COG1	ORPHA:263508
HP:0003422	Vertebral segmentation defect	2263	FGFR2	ORPHA:87
HP:0003422	Vertebral segmentation defect	2239	GPC4	ORPHA:373
HP:0003422	Vertebral segmentation defect	2239	GPC4	OMIM:312870
HP:0003422	Vertebral segmentation defect	2719	GPC3	ORPHA:373
HP:0003422	Vertebral segmentation defect	2719	GPC3	OMIM:312870
HP:0003422	Vertebral segmentation defect	7140	TNNT3	ORPHA:1147
HP:0003422	Vertebral segmentation defect	4621	MYH3	ORPHA:1147
HP:0003422	Vertebral segmentation defect	4621	MYH3	ORPHA:2990
HP:0003422	Vertebral segmentation defect	7169	TPM2	ORPHA:1147
HP:0003422	Vertebral segmentation defect	259232	NALCN	ORPHA:1147
HP:0003422	Vertebral segmentation defect	7136	TNNI2	ORPHA:1147
HP:0003422	Vertebral segmentation defect	134701	RIPPLY2	ORPHA:2311
HP:0003422	Vertebral segmentation defect	84667	HES7	ORPHA:2311
HP:0003422	Vertebral segmentation defect	84667	HES7	OMIM:613686
HP:0003422	Vertebral segmentation defect	55191	NADSYN1	OMIM:618845
HP:0003422	Vertebral segmentation defect	64359	NXN	ORPHA:1507
HP:0003422	Vertebral segmentation defect	4920	ROR2	ORPHA:1507
HP:0003422	Vertebral segmentation defect	1146	CHRNG	ORPHA:2990
HP:0003422	Vertebral segmentation defect	3239	HOXD13	ORPHA:887
HP:0003422	Vertebral segmentation defect	4281	MID1	ORPHA:2745
HP:0003422	Vertebral segmentation defect	1280	COL2A1	ORPHA:85198
HP:0003422	Vertebral segmentation defect	57167	SALL4	ORPHA:959
HP:0003422	Vertebral segmentation defect	168667	BMPER	OMIM:608022
HP:0003422	Vertebral segmentation defect	55252	ASXL2	OMIM:617190
HP:0003422	Vertebral segmentation defect	27125	AFF4	ORPHA:444077
HP:0003422	Vertebral segmentation defect	27125	AFF4	OMIM:616368
HP:0003422	Vertebral segmentation defect	55870	ASH1L	OMIM:617796
HP:0003422	Vertebral segmentation defect	7862	BRPF1	OMIM:617333
HP:0003422	Vertebral segmentation defect	165	AEBP1	OMIM:618000
HP:0003422	Vertebral segmentation defect	84700	MYO18B	OMIM:616549
HP:0003422	Vertebral segmentation defect	1009	CDH11	OMIM:211380
HP:0003422	Vertebral segmentation defect	9935	MAFB	ORPHA:233
HP:0003422	Vertebral segmentation defect	1123	CHN1	ORPHA:233
HP:0003422	Vertebral segmentation defect	9573	GDF3	ORPHA:2345
HP:0003422	Vertebral segmentation defect	392255	GDF6	ORPHA:2345
HP:0003422	Vertebral segmentation defect	392255	GDF6	OMIM:118100
HP:0003422	Vertebral segmentation defect	4222	MEOX1	ORPHA:2345
HP:0003422	Vertebral segmentation defect	2245	FGD1	ORPHA:915
HP:0003422	Vertebral segmentation defect	2316	FLNA	ORPHA:90650
HP:0003422	Vertebral segmentation defect	2316	FLNA	ORPHA:90652
HP:0003422	Vertebral segmentation defect	81839	VANGL1	ORPHA:3027
HP:0003422	Vertebral segmentation defect	80199	FUZ	ORPHA:3027
HP:0003422	Vertebral segmentation defect	10606	PAICS	OMIM:619859
HP:0003422	Vertebral segmentation defect	2260	FGFR1	OMIM:190440
HP:0003422	Vertebral segmentation defect	1984	EIF5A	OMIM:619376
HP:0003422	Vertebral segmentation defect	90	ACVR1	OMIM:135100
HP:0003422	Vertebral segmentation defect	10735	STAG2	OMIM:301043
HP:0003422	Vertebral segmentation defect	3021	H3-3B	OMIM:619721
HP:0003422	Vertebral segmentation defect	6872	TAF1	ORPHA:480907
HP:0003422	Vertebral segmentation defect	3110	MNX1	OMIM:176450
HP:0003422	Vertebral segmentation defect	22827	PUF60	ORPHA:508498
HP:0003422	Vertebral segmentation defect	8567	MADD	OMIM:619004
HP:0003423	Thoracolumbar kyphoscoliosis	8838	CCN6	ORPHA:1159
HP:0003423	Thoracolumbar kyphoscoliosis	1836	SLC26A2	ORPHA:56304
HP:0003423	Thoracolumbar kyphoscoliosis	1009	CDH11	ORPHA:1299
HP:0003423	Thoracolumbar kyphoscoliosis	25871	NEPRO	OMIM:618853
HP:0003423	Thoracolumbar kyphoscoliosis	10940	POP1	OMIM:617396
HP:0003423	Thoracolumbar kyphoscoliosis	4247	MGAT2	OMIM:212066
HP:0003423	Thoracolumbar kyphoscoliosis	8022	LHX3	ORPHA:231720
HP:0003423	Thoracolumbar kyphoscoliosis	79158	GNPTAB	OMIM:252500
HP:0003481	Segmental peripheral demyelination/remyelination	5376	PMP22	OMIM:162500
HP:0003481	Segmental peripheral demyelination/remyelination	5376	PMP22	OMIM:118220
HP:0003481	Segmental peripheral demyelination/remyelination	5376	PMP22	OMIM:145900
HP:0003481	Segmental peripheral demyelination/remyelination	5376	PMP22	OMIM:180800
HP:0003481	Segmental peripheral demyelination/remyelination	4535	MT-ND1	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4536	MT-ND2	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4537	MT-ND3	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4538	MT-ND4	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4567	MT-TL1	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4578	MT-TW	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4577	MT-TV	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4508	MT-ATP6	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4540	MT-ND5	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4541	MT-ND6	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	4566	MT-TK	ORPHA:255210
HP:0003481	Segmental peripheral demyelination/remyelination	10397	NDRG1	OMIM:601455
HP:0003481	Segmental peripheral demyelination/remyelination	4747	NEFL	OMIM:607734
HP:0003481	Segmental peripheral demyelination/remyelination	5631	PRPS1	OMIM:311070
HP:0003481	Segmental peripheral demyelination/remyelination	4359	MPZ	OMIM:145900
HP:0003481	Segmental peripheral demyelination/remyelination	4359	MPZ	OMIM:607791
HP:0003481	Segmental peripheral demyelination/remyelination	4359	MPZ	OMIM:180800
HP:0003481	Segmental peripheral demyelination/remyelination	1959	EGR2	OMIM:145900
HP:0003481	Segmental peripheral demyelination/remyelination	57716	PRX	OMIM:145900
HP:0003481	Segmental peripheral demyelination/remyelination	81846	SBF2	OMIM:604563
HP:0003481	Segmental peripheral demyelination/remyelination	1785	DNM2	OMIM:606482
HP:0003481	Segmental peripheral demyelination/remyelination	9516	LITAF	OMIM:601098
HP:0003481	Segmental peripheral demyelination/remyelination	8729	GBF1	OMIM:606483
HP:0003426	First dorsal interossei muscle atrophy	2617	GARS1	OMIM:600794
HP:0003426	First dorsal interossei muscle atrophy	2617	GARS1	ORPHA:139536
HP:0003426	First dorsal interossei muscle atrophy	2617	GARS1	OMIM:601472
HP:0003426	First dorsal interossei muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0003426	First dorsal interossei muscle atrophy	26580	BSCL2	OMIM:270685
HP:0003426	First dorsal interossei muscle atrophy	65055	REEP1	ORPHA:139536
HP:0003427	Thenar muscle weakness	2617	GARS1	OMIM:600794
HP:0003427	Thenar muscle weakness	2617	GARS1	ORPHA:139536
HP:0003427	Thenar muscle weakness	2617	GARS1	OMIM:601472
HP:0003427	Thenar muscle weakness	26580	BSCL2	ORPHA:139536
HP:0003427	Thenar muscle weakness	26580	BSCL2	OMIM:270685
HP:0003427	Thenar muscle weakness	65055	REEP1	ORPHA:139536
HP:0003427	Thenar muscle weakness	5376	PMP22	OMIM:118300
HP:0003427	Thenar muscle weakness	2318	FLNC	OMIM:614065
HP:0003429	CNS hypomyelination	1798	DPAGT1	ORPHA:86309
HP:0003429	CNS hypomyelination	10617	STAMBP	OMIM:614261
HP:0003429	CNS hypomyelination	91452	ACBD5	OMIM:618863
HP:0003429	CNS hypomyelination	84504	NKX6-2	ORPHA:527497
HP:0003429	CNS hypomyelination	84504	NKX6-2	OMIM:617560
HP:0003429	CNS hypomyelination	8506	CNTNAP1	OMIM:618186
HP:0003429	CNS hypomyelination	1859	DYRK1A	ORPHA:268261
HP:0003429	CNS hypomyelination	60684	TRAPPC11	OMIM:615356
HP:0003429	CNS hypomyelination	55627	SMPD4	OMIM:618622
HP:0003429	CNS hypomyelination	79753	SNIP1	OMIM:614501
HP:0003429	CNS hypomyelination	1119	CHKA	OMIM:620023
HP:0003429	CNS hypomyelination	11128	POLR3A	ORPHA:447896
HP:0003429	CNS hypomyelination	11128	POLR3A	ORPHA:88637
HP:0003429	CNS hypomyelination	11128	POLR3A	ORPHA:3455
HP:0003429	CNS hypomyelination	11128	POLR3A	OMIM:607694
HP:0003429	CNS hypomyelination	2521	FUS	ORPHA:300605
HP:0003429	CNS hypomyelination	80208	SPG11	ORPHA:300605
HP:0003429	CNS hypomyelination	10280	SIGMAR1	ORPHA:300605
HP:0003429	CNS hypomyelination	10558	SPTLC1	ORPHA:300605
HP:0003429	CNS hypomyelination	57679	ALS2	ORPHA:300605
HP:0003429	CNS hypomyelination	9533	POLR1C	OMIM:616494
HP:0003429	CNS hypomyelination	9533	POLR1C	ORPHA:88637
HP:0003429	CNS hypomyelination	221496	LEMD2	OMIM:619322
HP:0003429	CNS hypomyelination	90522	YIF1B	OMIM:619125
HP:0003429	CNS hypomyelination	1615	DARS1	OMIM:615281
HP:0003429	CNS hypomyelination	55182	RNF220	OMIM:619688
HP:0003429	CNS hypomyelination	3074	HEXB	OMIM:268800
HP:0003429	CNS hypomyelination	3074	HEXB	ORPHA:309155
HP:0003429	CNS hypomyelination	5859	QARS1	OMIM:615760
HP:0003429	CNS hypomyelination	9442	MED27	OMIM:619286
HP:0003429	CNS hypomyelination	166378	AFG2A	OMIM:616577
HP:0003429	CNS hypomyelination	5591	PRKDC	OMIM:615966
HP:0003429	CNS hypomyelination	2555	GABRA2	OMIM:618557
HP:0003429	CNS hypomyelination	16	AARS1	OMIM:616339
HP:0003429	CNS hypomyelination	55152	DALRD3	OMIM:618910
HP:0003429	CNS hypomyelination	5010	CLDN11	OMIM:619328
HP:0003429	CNS hypomyelination	25973	PARS2	OMIM:618437
HP:0003429	CNS hypomyelination	2558	GABRA5	OMIM:618559
HP:0003429	CNS hypomyelination	1650	DDOST	ORPHA:300536
HP:0003429	CNS hypomyelination	56915	EXOSC5	OMIM:619576
HP:0003429	CNS hypomyelination	79989	IFT56	OMIM:619534
HP:0003429	CNS hypomyelination	29920	PYCR2	OMIM:616420
HP:0003429	CNS hypomyelination	29920	PYCR2	ORPHA:481152
HP:0003429	CNS hypomyelination	9197	SLC33A1	OMIM:614482
HP:0003429	CNS hypomyelination	64834	ELOVL1	OMIM:618527
HP:0003429	CNS hypomyelination	6709	SPTAN1	OMIM:613477
HP:0003429	CNS hypomyelination	2058	EPRS1	OMIM:617951
HP:0003429	CNS hypomyelination	5194	PEX13	OMIM:614883
HP:0003429	CNS hypomyelination	55005	RMND1	OMIM:614922
HP:0003429	CNS hypomyelination	2917	GRM7	OMIM:618922
HP:0003429	CNS hypomyelination	8139	GAN	ORPHA:643
HP:0003429	CNS hypomyelination	64802	NMNAT1	OMIM:619260
HP:0003429	CNS hypomyelination	2898	GRIK2	OMIM:619580
HP:0003429	CNS hypomyelination	191	AHCY	ORPHA:88618
HP:0003429	CNS hypomyelination	205327	C2orf69	OMIM:619423
HP:0003429	CNS hypomyelination	523	ATP6V1A	OMIM:618012
HP:0003429	CNS hypomyelination	5813	PURA	OMIM:616158
HP:0003429	CNS hypomyelination	2752	GLUL	OMIM:610015
HP:0003429	CNS hypomyelination	55770	EXOC2	OMIM:619306
HP:0003429	CNS hypomyelination	79731	NARS2	OMIM:616239
HP:0003429	CNS hypomyelination	26005	C2CD3	OMIM:615948
HP:0003429	CNS hypomyelination	54332	GDAP1	OMIM:214400
HP:0003429	CNS hypomyelination	27152	INTU	OMIM:617926
HP:0003429	CNS hypomyelination	5297	PI4KA	OMIM:619708
HP:0003429	CNS hypomyelination	7074	TIAM1	OMIM:619908
HP:0003429	CNS hypomyelination	6904	TBCD	ORPHA:496641
HP:0003429	CNS hypomyelination	10134	BCAP31	OMIM:300475
HP:0003429	CNS hypomyelination	10134	BCAP31	ORPHA:369939
HP:0003429	CNS hypomyelination	158	ADSL	OMIM:103050
HP:0003429	CNS hypomyelination	55703	POLR3B	OMIM:614381
HP:0003429	CNS hypomyelination	84992	PIGY	ORPHA:247262
HP:0003429	CNS hypomyelination	84720	PIGO	ORPHA:247262
HP:0003429	CNS hypomyelination	93210	PGAP3	ORPHA:247262
HP:0003429	CNS hypomyelination	284098	PIGW	ORPHA:247262
HP:0003429	CNS hypomyelination	27315	PGAP2	ORPHA:247262
HP:0003429	CNS hypomyelination	55650	PIGV	ORPHA:247262
HP:0003429	CNS hypomyelination	9487	PIGL	ORPHA:247262
HP:0003429	CNS hypomyelination	10588	MTHFS	OMIM:618367
HP:0003429	CNS hypomyelination	55823	VPS11	OMIM:616683
HP:0003429	CNS hypomyelination	6812	STXBP1	OMIM:612164
HP:0003429	CNS hypomyelination	160418	TMTC3	OMIM:617255
HP:0003429	CNS hypomyelination	84668	HYCC1	ORPHA:85163
HP:0003429	CNS hypomyelination	5354	PLP1	ORPHA:280219
HP:0003429	CNS hypomyelination	5354	PLP1	ORPHA:280210
HP:0003429	CNS hypomyelination	6509	SLC1A4	ORPHA:447997
HP:0003429	CNS hypomyelination	1528	CYB5A	ORPHA:621
HP:0003429	CNS hypomyelination	1727	CYB5R3	ORPHA:621
HP:0003429	CNS hypomyelination	8604	SLC25A12	OMIM:612949
HP:0003429	CNS hypomyelination	85365	ALG2	ORPHA:79326
HP:0003429	CNS hypomyelination	1967	EIF2B1	OMIM:603896
HP:0003429	CNS hypomyelination	57165	GJC2	OMIM:608804
HP:0003429	CNS hypomyelination	80232	WDR26	ORPHA:513456
HP:0003429	CNS hypomyelination	5917	RARS1	ORPHA:438114
HP:0003429	CNS hypomyelination	6663	SOX10	OMIM:611584
HP:0003429	CNS hypomyelination	26227	PHGDH	ORPHA:79351
HP:0003429	CNS hypomyelination	10382	TUBB4A	OMIM:612438
HP:0003701	Proximal muscle weakness	58	ACTA1	ORPHA:97240
HP:0003701	Proximal muscle weakness	58	ACTA1	ORPHA:97244
HP:0003701	Proximal muscle weakness	6445	SGCG	ORPHA:353
HP:0003701	Proximal muscle weakness	6445	SGCG	OMIM:253700
HP:0003701	Proximal muscle weakness	10290	SPEG	ORPHA:169186
HP:0003701	Proximal muscle weakness	57190	SELENON	ORPHA:97244
HP:0003701	Proximal muscle weakness	2673	GFPT1	OMIM:608931
HP:0003701	Proximal muscle weakness	2673	GFPT1	OMIM:610542
HP:0003701	Proximal muscle weakness	2673	GFPT1	ORPHA:353327
HP:0003701	Proximal muscle weakness	91452	ACBD5	OMIM:618863
HP:0003701	Proximal muscle weakness	1763	DNA2	OMIM:615156
HP:0003701	Proximal muscle weakness	1763	DNA2	ORPHA:352470
HP:0003701	Proximal muscle weakness	10367	MICU1	OMIM:615673
HP:0003701	Proximal muscle weakness	84665	MYPN	OMIM:617336
HP:0003701	Proximal muscle weakness	84665	MYPN	ORPHA:171881
HP:0003701	Proximal muscle weakness	859	CAV3	OMIM:606072
HP:0003701	Proximal muscle weakness	79912	PYROXD1	OMIM:617258
HP:0003701	Proximal muscle weakness	6442	SGCA	ORPHA:62
HP:0003701	Proximal muscle weakness	6442	SGCA	OMIM:608099
HP:0003701	Proximal muscle weakness	1605	DAG1	OMIM:613818
HP:0003701	Proximal muscle weakness	1605	DAG1	ORPHA:280333
HP:0003701	Proximal muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003701	Proximal muscle weakness	1120	CHKB	OMIM:602541
HP:0003701	Proximal muscle weakness	84197	POMK	OMIM:616094
HP:0003701	Proximal muscle weakness	9200	HACD1	OMIM:619967
HP:0003701	Proximal muscle weakness	6901	TAFAZZIN	OMIM:302060
HP:0003701	Proximal muscle weakness	54344	DPM3	OMIM:612937
HP:0003701	Proximal muscle weakness	29925	GMPPB	ORPHA:353327
HP:0003701	Proximal muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0003701	Proximal muscle weakness	85365	ALG2	ORPHA:353327
HP:0003701	Proximal muscle weakness	85365	ALG2	OMIM:616228
HP:0003701	Proximal muscle weakness	199857	ALG14	ORPHA:353327
HP:0003701	Proximal muscle weakness	427	ASAH1	OMIM:159950
HP:0003701	Proximal muscle weakness	6444	SGCD	OMIM:601287
HP:0003701	Proximal muscle weakness	7169	TPM2	ORPHA:171881
HP:0003701	Proximal muscle weakness	7169	TPM2	OMIM:609285
HP:0003701	Proximal muscle weakness	7170	TPM3	ORPHA:171881
HP:0003701	Proximal muscle weakness	146862	UNC45B	OMIM:619178
HP:0003701	Proximal muscle weakness	84876	ORAI1	OMIM:612782
HP:0003701	Proximal muscle weakness	55624	POMGNT1	OMIM:613157
HP:0003701	Proximal muscle weakness	267010	RNU12	OMIM:620208
HP:0003701	Proximal muscle weakness	1073	CFL2	OMIM:610687
HP:0003701	Proximal muscle weakness	2218	FKTN	OMIM:611615
HP:0003701	Proximal muscle weakness	2218	FKTN	OMIM:611588
HP:0003701	Proximal muscle weakness	80324	PUS1	OMIM:600462
HP:0003701	Proximal muscle weakness	112812	FDX2	OMIM:251900
HP:0003701	Proximal muscle weakness	84892	POMGNT2	OMIM:618135
HP:0003701	Proximal muscle weakness	51763	INPP5K	OMIM:617404
HP:0003701	Proximal muscle weakness	529	ATP6V1E1	OMIM:617402
HP:0003701	Proximal muscle weakness	3679	ITGA7	OMIM:613204
HP:0003701	Proximal muscle weakness	55154	MSTO1	ORPHA:502423
HP:0003701	Proximal muscle weakness	6443	SGCB	ORPHA:119
HP:0003701	Proximal muscle weakness	50640	PNPLA8	OMIM:251950
HP:0003701	Proximal muscle weakness	246329	STAC3	OMIM:255995
HP:0003701	Proximal muscle weakness	59341	TRPV4	OMIM:181405
HP:0003701	Proximal muscle weakness	2628	GATM	OMIM:612718
HP:0003701	Proximal muscle weakness	779	CACNA1S	ORPHA:681
HP:0003701	Proximal muscle weakness	779	CACNA1S	ORPHA:79102
HP:0003701	Proximal muscle weakness	10008	KCNE3	ORPHA:681
HP:0003701	Proximal muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0003701	Proximal muscle weakness	2556	GABRA3	ORPHA:79102
HP:0003701	Proximal muscle weakness	1674	DES	OMIM:601419
HP:0003701	Proximal muscle weakness	9853	RUSC2	OMIM:617773
HP:0003701	Proximal muscle weakness	80308	FLAD1	OMIM:255100
HP:0003701	Proximal muscle weakness	7148	TNXB	ORPHA:230839
HP:0003701	Proximal muscle weakness	7148	TNXB	OMIM:606408
HP:0003701	Proximal muscle weakness	2521	FUS	ORPHA:275872
HP:0003701	Proximal muscle weakness	2521	FUS	ORPHA:300605
HP:0003701	Proximal muscle weakness	8878	SQSTM1	ORPHA:275872
HP:0003701	Proximal muscle weakness	23435	TARDBP	ORPHA:275872
HP:0003701	Proximal muscle weakness	29110	TBK1	ORPHA:275872
HP:0003701	Proximal muscle weakness	825	CAPN3	ORPHA:267
HP:0003701	Proximal muscle weakness	825	CAPN3	OMIM:618129
HP:0003701	Proximal muscle weakness	56704	JPH1	OMIM:607831
HP:0003701	Proximal muscle weakness	56997	COQ8A	ORPHA:139485
HP:0003701	Proximal muscle weakness	56997	COQ8A	OMIM:612016
HP:0003701	Proximal muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0003701	Proximal muscle weakness	79147	FKRP	OMIM:607155
HP:0003701	Proximal muscle weakness	79147	FKRP	OMIM:606612
HP:0003701	Proximal muscle weakness	79147	FKRP	ORPHA:34515
HP:0003701	Proximal muscle weakness	79147	FKRP	ORPHA:370959
HP:0003701	Proximal muscle weakness	9581	PREPL	OMIM:616224
HP:0003701	Proximal muscle weakness	4604	MYBPC1	OMIM:618524
HP:0003701	Proximal muscle weakness	29967	LRP12	OMIM:164310
HP:0003701	Proximal muscle weakness	9570	GOSR2	OMIM:620166
HP:0003701	Proximal muscle weakness	4508	MT-ATP6	OMIM:551500
HP:0003701	Proximal muscle weakness	4508	MT-ATP6	ORPHA:644
HP:0003701	Proximal muscle weakness	4620	MYH2	OMIM:605637
HP:0003701	Proximal muscle weakness	88	ACTN2	OMIM:618654
HP:0003701	Proximal muscle weakness	88	ACTN2	OMIM:618655
HP:0003701	Proximal muscle weakness	5442	POLRMT	OMIM:619743
HP:0003701	Proximal muscle weakness	7156	TOP3A	OMIM:618098
HP:0003701	Proximal muscle weakness	844	CASQ1	OMIM:616231
HP:0003701	Proximal muscle weakness	4632	MYL1	OMIM:618414
HP:0003701	Proximal muscle weakness	79731	NARS2	OMIM:616239
HP:0003701	Proximal muscle weakness	284439	SLC25A42	OMIM:618416
HP:0003701	Proximal muscle weakness	113278	SLC52A3	OMIM:211530
HP:0003701	Proximal muscle weakness	5566	PRKACA	OMIM:615830
HP:0003701	Proximal muscle weakness	5566	PRKACA	ORPHA:189439
HP:0003701	Proximal muscle weakness	8622	PDE8B	ORPHA:189439
HP:0003701	Proximal muscle weakness	5573	PRKAR1A	ORPHA:189439
HP:0003701	Proximal muscle weakness	50940	PDE11A	ORPHA:189439
HP:0003701	Proximal muscle weakness	4744	NEFH	OMIM:616924
HP:0003701	Proximal muscle weakness	6607	SMN2	OMIM:253400
HP:0003701	Proximal muscle weakness	4976	OPA1	OMIM:165500
HP:0003701	Proximal muscle weakness	8898	MTMR2	OMIM:601382
HP:0003701	Proximal muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0003701	Proximal muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0003701	Proximal muscle weakness	57679	ALS2	ORPHA:300605
HP:0003701	Proximal muscle weakness	57679	ALS2	OMIM:205100
HP:0003701	Proximal muscle weakness	2548	GAA	ORPHA:308552
HP:0003701	Proximal muscle weakness	2548	GAA	OMIM:232300
HP:0003701	Proximal muscle weakness	1299	COL9A3	OMIM:600969
HP:0003701	Proximal muscle weakness	79798	ARMC5	ORPHA:189427
HP:0003701	Proximal muscle weakness	2778	GNAS	ORPHA:189427
HP:0003701	Proximal muscle weakness	11149	BVES	OMIM:616812
HP:0003701	Proximal muscle weakness	8106	PABPN1	OMIM:164300
HP:0003701	Proximal muscle weakness	3181	HNRNPA2B1	ORPHA:52430
HP:0003701	Proximal muscle weakness	34	ACADM	ORPHA:42
HP:0003701	Proximal muscle weakness	6389	SDHA	ORPHA:3208
HP:0003701	Proximal muscle weakness	6390	SDHB	ORPHA:3208
HP:0003701	Proximal muscle weakness	6392	SDHD	ORPHA:3208
HP:0003701	Proximal muscle weakness	644096	SDHAF1	ORPHA:3208
HP:0003701	Proximal muscle weakness	7317	UBA1	ORPHA:1145
HP:0003701	Proximal muscle weakness	4942	OAT	OMIM:258870
HP:0003701	Proximal muscle weakness	3098	HK1	ORPHA:99953
HP:0003701	Proximal muscle weakness	79628	SH3TC2	OMIM:601596
HP:0003701	Proximal muscle weakness	10397	NDRG1	ORPHA:99950
HP:0003701	Proximal muscle weakness	10397	NDRG1	OMIM:601455
HP:0003701	Proximal muscle weakness	9217	VAPB	OMIM:182980
HP:0003701	Proximal muscle weakness	9217	VAPB	OMIM:608627
HP:0003701	Proximal muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0003701	Proximal muscle weakness	284119	CAVIN1	OMIM:613327
HP:0003701	Proximal muscle weakness	4359	MPZ	OMIM:145900
HP:0003701	Proximal muscle weakness	5376	PMP22	OMIM:145900
HP:0003701	Proximal muscle weakness	1959	EGR2	OMIM:145900
HP:0003701	Proximal muscle weakness	57716	PRX	OMIM:145900
HP:0003701	Proximal muscle weakness	389827	MYMK	OMIM:254940
HP:0003701	Proximal muscle weakness	6310	ATXN1	OMIM:164400
HP:0003701	Proximal muscle weakness	126129	CPT1C	OMIM:616282
HP:0003701	Proximal muscle weakness	127833	SYT2	OMIM:616040
HP:0003701	Proximal muscle weakness	127833	SYT2	ORPHA:98914
HP:0003701	Proximal muscle weakness	7555	CNBP	OMIM:602668
HP:0003701	Proximal muscle weakness	60482	SLC5A7	OMIM:617143
HP:0003701	Proximal muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003701	Proximal muscle weakness	84679	SLC9A7	OMIM:301024
HP:0003701	Proximal muscle weakness	4694	NDUFA1	OMIM:301020
HP:0003701	Proximal muscle weakness	10616	RBCK1	OMIM:615895
HP:0003701	Proximal muscle weakness	55863	TMEM126B	OMIM:618250
HP:0003701	Proximal muscle weakness	4507	MTAP	OMIM:112250
HP:0003701	Proximal muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0003701	Proximal muscle weakness	89874	SLC25A21	OMIM:618811
HP:0003701	Proximal muscle weakness	9531	BAG3	OMIM:612954
HP:0003701	Proximal muscle weakness	56244	BTNL2	ORPHA:797
HP:0003701	Proximal muscle weakness	3123	HLA-DRB1	ORPHA:797
HP:0003701	Proximal muscle weakness	8425	LTBP4	ORPHA:98896
HP:0003701	Proximal muscle weakness	79784	MYH14	ORPHA:397744
HP:0003701	Proximal muscle weakness	84265	POLR3GL	OMIM:619234
HP:0003701	Proximal muscle weakness	55791	LRIF1	OMIM:619477
HP:0003701	Proximal muscle weakness	8087	FXR1	OMIM:618823
HP:0003701	Proximal muscle weakness	29954	POMT2	ORPHA:370959
HP:0003701	Proximal muscle weakness	29954	POMT2	OMIM:613156
HP:0003701	Proximal muscle weakness	29954	POMT2	OMIM:613158
HP:0003701	Proximal muscle weakness	10345	TRDN	OMIM:615441
HP:0003701	Proximal muscle weakness	6786	STIM1	OMIM:185070
HP:0003701	Proximal muscle weakness	6786	STIM1	OMIM:160565
HP:0003701	Proximal muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003701	Proximal muscle weakness	1103	CHAT	ORPHA:98914
HP:0003701	Proximal muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003701	Proximal muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003701	Proximal muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003701	Proximal muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003701	Proximal muscle weakness	8292	COLQ	ORPHA:98915
HP:0003701	Proximal muscle weakness	3913	LAMB2	ORPHA:98915
HP:0003701	Proximal muscle weakness	10342	TFG	OMIM:604484
HP:0003701	Proximal muscle weakness	9215	LARGE1	OMIM:608840
HP:0003701	Proximal muscle weakness	1716	DGUOK	OMIM:617070
HP:0003701	Proximal muscle weakness	3920	LAMP2	OMIM:300257
HP:0003701	Proximal muscle weakness	8139	GAN	ORPHA:643
HP:0003701	Proximal muscle weakness	8139	GAN	OMIM:256850
HP:0003701	Proximal muscle weakness	51776	MAP3K20	OMIM:617760
HP:0003701	Proximal muscle weakness	6584	SLC22A5	OMIM:212140
HP:0003701	Proximal muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003701	Proximal muscle weakness	5428	POLG	ORPHA:254892
HP:0003701	Proximal muscle weakness	56652	TWNK	ORPHA:254892
HP:0003701	Proximal muscle weakness	11232	POLG2	ORPHA:254892
HP:0003701	Proximal muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003701	Proximal muscle weakness	7273	TTN	OMIM:603689
HP:0003701	Proximal muscle weakness	7273	TTN	ORPHA:609
HP:0003701	Proximal muscle weakness	5255	PHKA1	OMIM:300559
HP:0003701	Proximal muscle weakness	22954	TRIM32	OMIM:254110
HP:0003701	Proximal muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003701	Proximal muscle weakness	54332	GDAP1	ORPHA:101097
HP:0003701	Proximal muscle weakness	1756	DMD	ORPHA:206546
HP:0003701	Proximal muscle weakness	3339	HSPG2	OMIM:255800
HP:0003701	Proximal muscle weakness	10020	GNE	ORPHA:602
HP:0003701	Proximal muscle weakness	23312	DMXL2	ORPHA:453533
HP:0003701	Proximal muscle weakness	1778	DYNC1H1	OMIM:158600
HP:0003701	Proximal muscle weakness	3991	LIPE	ORPHA:435660
HP:0003701	Proximal muscle weakness	2318	FLNC	ORPHA:63273
HP:0003701	Proximal muscle weakness	400916	CHCHD10	OMIM:616209
HP:0003701	Proximal muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0003701	Proximal muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0003701	Proximal muscle weakness	540	ATP7B	ORPHA:905
HP:0003701	Proximal muscle weakness	203547	VMA21	OMIM:310440
HP:0003701	Proximal muscle weakness	274	BIN1	ORPHA:169189
HP:0003701	Proximal muscle weakness	64419	MTMR14	ORPHA:169189
HP:0003701	Proximal muscle weakness	4618	MYF6	ORPHA:169189
HP:0003701	Proximal muscle weakness	1785	DNM2	ORPHA:169189
HP:0003701	Proximal muscle weakness	6261	RYR1	ORPHA:169189
HP:0003701	Proximal muscle weakness	23556	PIGN	ORPHA:280633
HP:0003701	Proximal muscle weakness	3074	HEXB	ORPHA:309169
HP:0003701	Proximal muscle weakness	3714	JAG2	OMIM:619566
HP:0003701	Proximal muscle weakness	6652	SORD	OMIM:618912
HP:0003701	Proximal muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0003701	Proximal muscle weakness	22880	MORC2	ORPHA:466768
HP:0003701	Proximal muscle weakness	729920	CRPPA	ORPHA:352479
HP:0003701	Proximal muscle weakness	23299	BICD2	OMIM:615290
HP:0003701	Proximal muscle weakness	65055	REEP1	ORPHA:101011
HP:0003701	Proximal muscle weakness	56983	POGLUT1	OMIM:617232
HP:0003701	Proximal muscle weakness	64208	POPDC3	OMIM:618848
HP:0003701	Proximal muscle weakness	64856	VWA1	OMIM:619216
HP:0003701	Proximal muscle weakness	311	ANXA11	OMIM:619733
HP:0003701	Proximal muscle weakness	80208	SPG11	OMIM:616668
HP:0003701	Proximal muscle weakness	81846	SBF2	ORPHA:99956
HP:0003701	Proximal muscle weakness	6606	SMN1	OMIM:253300
HP:0003701	Proximal muscle weakness	2273	FHL1	ORPHA:98863
HP:0003701	Proximal muscle weakness	2010	EMD	ORPHA:98863
HP:0003701	Proximal muscle weakness	23676	SMPX	OMIM:301075
HP:0003701	Proximal muscle weakness	8557	TCAP	OMIM:601954
HP:0003701	Proximal muscle weakness	3178	HNRNPA1	OMIM:615424
HP:0003701	Proximal muscle weakness	3908	LAMA2	OMIM:618138
HP:0003701	Proximal muscle weakness	1371	CPOX	ORPHA:79273
HP:0003701	Proximal muscle weakness	4000	LMNA	ORPHA:98855
HP:0003701	Proximal muscle weakness	4000	LMNA	ORPHA:98856
HP:0003701	Proximal muscle weakness	4000	LMNA	ORPHA:98853
HP:0003701	Proximal muscle weakness	3145	HMBS	ORPHA:79276
HP:0003701	Proximal muscle weakness	4747	NEFL	ORPHA:101085
HP:0003701	Proximal muscle weakness	79188	TMEM43	ORPHA:98853
HP:0003701	Proximal muscle weakness	23345	SYNE1	ORPHA:98853
HP:0003701	Proximal muscle weakness	23224	SYNE2	ORPHA:98853
HP:0003701	Proximal muscle weakness	339855	KY	ORPHA:496689
HP:0003701	Proximal muscle weakness	9990	SLC12A6	OMIM:620068
HP:0003701	Proximal muscle weakness	23175	LPIN1	ORPHA:99845
HP:0003701	Proximal muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0003701	Proximal muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0003701	Proximal muscle weakness	5498	PPOX	ORPHA:79473
HP:0003701	Proximal muscle weakness	5339	PLEC	ORPHA:254361
HP:0003701	Proximal muscle weakness	4568	MT-TL2	ORPHA:663
HP:0003701	Proximal muscle weakness	4567	MT-TL1	ORPHA:663
HP:0003701	Proximal muscle weakness	4570	MT-TN	ORPHA:663
HP:0003701	Proximal muscle weakness	4574	MT-TS1	ORPHA:663
HP:0003701	Proximal muscle weakness	7084	TK2	ORPHA:254875
HP:0003701	Proximal muscle weakness	203859	ANO5	ORPHA:399096
HP:0003701	Proximal muscle weakness	60684	TRAPPC11	ORPHA:369847
HP:0003701	Proximal muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003701	Proximal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003701	Proximal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0003701	Proximal muscle weakness	4703	NEB	ORPHA:399103
HP:0003701	Proximal muscle weakness	7415	VCP	OMIM:167320
HP:0003701	Proximal muscle weakness	90523	MLIP	OMIM:620138
HP:0003701	Proximal muscle weakness	9499	MYOT	ORPHA:98911
HP:0003701	Proximal muscle weakness	11155	LDB3	ORPHA:98912
HP:0003701	Proximal muscle weakness	11155	LDB3	OMIM:609452
HP:0003701	Proximal muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003701	Proximal muscle weakness	5837	PYGM	ORPHA:368
HP:0003701	Proximal muscle weakness	1303	COL12A1	ORPHA:610
HP:0003701	Proximal muscle weakness	1291	COL6A1	ORPHA:610
HP:0003701	Proximal muscle weakness	1292	COL6A2	ORPHA:610
HP:0003701	Proximal muscle weakness	1293	COL6A3	ORPHA:610
HP:0003701	Proximal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003701	Proximal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003701	Proximal muscle weakness	81545	FBXO38	OMIM:615575
HP:0003701	Proximal muscle weakness	8291	DYSF	ORPHA:45448
HP:0003701	Proximal muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003701	Proximal muscle weakness	9927	MFN2	ORPHA:99947
HP:0003701	Proximal muscle weakness	10585	POMT1	ORPHA:86812
HP:0003701	Proximal muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003701	Proximal muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003701	Proximal muscle weakness	4038	LRP4	ORPHA:98913
HP:0003701	Proximal muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003701	Proximal muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003701	Proximal muscle weakness	1144	CHRND	ORPHA:98913
HP:0003701	Proximal muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003701	Proximal muscle weakness	4593	MUSK	ORPHA:98913
HP:0003701	Proximal muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003701	Proximal muscle weakness	375790	AGRN	ORPHA:98913
HP:0003701	Proximal muscle weakness	221264	AK9	ORPHA:98913
HP:0003701	Proximal muscle weakness	285489	DOK7	ORPHA:98913
HP:0003701	Proximal muscle weakness	4625	MYH7	ORPHA:437572
HP:0003701	Proximal muscle weakness	182	JAG1	OMIM:619574
HP:0004336	Myelin outfoldings	5376	PMP22	OMIM:118220
HP:0004336	Myelin outfoldings	4747	NEFL	OMIM:607734
HP:0004336	Myelin outfoldings	6305	SBF1	OMIM:615284
HP:0004336	Myelin outfoldings	81846	SBF2	ORPHA:99956
HP:0004336	Myelin outfoldings	4359	MPZ	OMIM:118200
HP:0004336	Myelin outfoldings	6663	SOX10	OMIM:609136
HP:0004336	Myelin outfoldings	8898	MTMR2	OMIM:601382
HP:0003434	Sensory ataxic neuropathy	5428	POLG	OMIM:613662
HP:0003434	Sensory ataxic neuropathy	5428	POLG	OMIM:607459
HP:0003434	Sensory ataxic neuropathy	5428	POLG	OMIM:258450
HP:0003434	Sensory ataxic neuropathy	5428	POLG	ORPHA:70595
HP:0003434	Sensory ataxic neuropathy	56652	TWNK	OMIM:607459
HP:0003434	Sensory ataxic neuropathy	56652	TWNK	ORPHA:70595
HP:0003434	Sensory ataxic neuropathy	50846	DHH	ORPHA:168563
HP:0003435	Cold-induced hand cramps	2617	GARS1	OMIM:600794
HP:0003435	Cold-induced hand cramps	2617	GARS1	ORPHA:139536
HP:0003435	Cold-induced hand cramps	2617	GARS1	OMIM:601472
HP:0003435	Cold-induced hand cramps	26580	BSCL2	ORPHA:139536
HP:0003435	Cold-induced hand cramps	65055	REEP1	ORPHA:139536
HP:0003436	Prolonged miniature endplate currents	1134	CHRNA1	OMIM:601462
HP:0003436	Prolonged miniature endplate currents	8292	COLQ	ORPHA:98915
HP:0003436	Prolonged miniature endplate currents	8292	COLQ	OMIM:603034
HP:0003436	Prolonged miniature endplate currents	3913	LAMB2	ORPHA:98915
HP:0003436	Prolonged miniature endplate currents	1144	CHRND	OMIM:616321
HP:0003438	Absent Achilles reflex	291	SLC25A4	ORPHA:254892
HP:0003438	Absent Achilles reflex	5428	POLG	ORPHA:254892
HP:0003438	Absent Achilles reflex	5428	POLG	OMIM:607459
HP:0003438	Absent Achilles reflex	56652	TWNK	ORPHA:254892
HP:0003438	Absent Achilles reflex	56652	TWNK	OMIM:607459
HP:0003438	Absent Achilles reflex	11232	POLG2	ORPHA:254892
HP:0003438	Absent Achilles reflex	50484	RRM2B	ORPHA:254892
HP:0003438	Absent Achilles reflex	1410	CRYAB	OMIM:608810
HP:0003438	Absent Achilles reflex	4287	ATXN3	OMIM:109150
HP:0003438	Absent Achilles reflex	57003	CCDC47	OMIM:618268
HP:0003438	Absent Achilles reflex	3094	HINT1	ORPHA:324442
HP:0003438	Absent Achilles reflex	80207	OPA3	ORPHA:67036
HP:0003438	Absent Achilles reflex	8988	HSPB3	OMIM:613376
HP:0003438	Absent Achilles reflex	7415	VCP	ORPHA:435387
HP:0003438	Absent Achilles reflex	7415	VCP	OMIM:616687
HP:0003438	Absent Achilles reflex	22880	MORC2	OMIM:616688
HP:0003438	Absent Achilles reflex	57863	CADM3	OMIM:619519
HP:0003438	Absent Achilles reflex	4361	MRE11	ORPHA:251347
HP:0003438	Absent Achilles reflex	4361	MRE11	OMIM:604391
HP:0003438	Absent Achilles reflex	5165	PDK3	OMIM:300905
HP:0003438	Absent Achilles reflex	5165	PDK3	ORPHA:352675
HP:0003438	Absent Achilles reflex	64837	KLC2	OMIM:609541
HP:0003438	Absent Achilles reflex	10159	ATP6AP2	ORPHA:93952
HP:0003438	Absent Achilles reflex	6606	SMN1	OMIM:253400
HP:0003438	Absent Achilles reflex	6607	SMN2	OMIM:253400
HP:0003438	Absent Achilles reflex	25894	PLEKHG4	ORPHA:98765
HP:0003438	Absent Achilles reflex	7879	RAB7A	OMIM:600882
HP:0003438	Absent Achilles reflex	7504	XK	OMIM:300842
HP:0003438	Absent Achilles reflex	55958	KLHL9	ORPHA:399081
HP:0003438	Absent Achilles reflex	5375	PMP2	OMIM:618279
HP:0003438	Absent Achilles reflex	23204	ARL6IP1	OMIM:615685
HP:0003438	Absent Achilles reflex	5192	PEX10	OMIM:614871
HP:0003438	Absent Achilles reflex	65055	REEP1	OMIM:614751
HP:0003438	Absent Achilles reflex	65055	REEP1	OMIM:620011
HP:0003438	Absent Achilles reflex	3035	HARS1	ORPHA:488333
HP:0003438	Absent Achilles reflex	3035	HARS1	OMIM:616625
HP:0003438	Absent Achilles reflex	26278	SACS	OMIM:270550
HP:0003438	Absent Achilles reflex	26278	SACS	ORPHA:98
HP:0003438	Absent Achilles reflex	10280	SIGMAR1	OMIM:605726
HP:0003438	Absent Achilles reflex	8878	SQSTM1	OMIM:617158
HP:0003438	Absent Achilles reflex	5832	ALDH18A1	ORPHA:447757
HP:0003438	Absent Achilles reflex	5832	ALDH18A1	ORPHA:447760
HP:0003438	Absent Achilles reflex	10020	GNE	ORPHA:602
HP:0003438	Absent Achilles reflex	2632	GBE1	OMIM:263570
HP:0003438	Absent Achilles reflex	59345	GNB4	OMIM:615185
HP:0003438	Absent Achilles reflex	2705	GJB1	OMIM:302800
HP:0003438	Absent Achilles reflex	8291	DYSF	ORPHA:178400
HP:0003438	Absent Achilles reflex	16	AARS1	OMIM:613287
HP:0003438	Absent Achilles reflex	7453	WARS1	OMIM:617721
HP:0003438	Absent Achilles reflex	23230	VPS13A	ORPHA:2388
HP:0003438	Absent Achilles reflex	9927	MFN2	ORPHA:99947
HP:0003438	Absent Achilles reflex	1861	TOR1A	OMIM:128100
HP:0003438	Absent Achilles reflex	4976	OPA1	ORPHA:1215
HP:0005619	Thoracolumbar kyphosis	8838	CCN6	ORPHA:1159
HP:0005619	Thoracolumbar kyphosis	1836	SLC26A2	ORPHA:56304
HP:0005619	Thoracolumbar kyphosis	1009	CDH11	ORPHA:1299
HP:0005619	Thoracolumbar kyphosis	25871	NEPRO	OMIM:618853
HP:0005619	Thoracolumbar kyphosis	10940	POP1	OMIM:617396
HP:0005619	Thoracolumbar kyphosis	4247	MGAT2	OMIM:212066
HP:0005619	Thoracolumbar kyphosis	8022	LHX3	ORPHA:231720
HP:0005619	Thoracolumbar kyphosis	79158	GNPTAB	OMIM:252500
HP:0005619	Thoracolumbar kyphosis	139285	AMER1	OMIM:300373
HP:0005619	Thoracolumbar kyphosis	2137	EXTL3	ORPHA:508533
HP:0005619	Thoracolumbar kyphosis	2137	EXTL3	OMIM:617425
HP:0005619	Thoracolumbar kyphosis	2317	FLNB	ORPHA:56305
HP:0005619	Thoracolumbar kyphosis	2261	FGFR3	ORPHA:15
HP:0005619	Thoracolumbar kyphosis	3835	KIF22	ORPHA:93360
HP:0005619	Thoracolumbar kyphosis	4882	NPR2	OMIM:602875
HP:0005619	Thoracolumbar kyphosis	116931	MED12L	OMIM:618872
HP:0005619	Thoracolumbar kyphosis	1280	COL2A1	OMIM:151210
HP:0005619	Thoracolumbar kyphosis	2629	GBA1	ORPHA:2072
HP:0005619	Thoracolumbar kyphosis	4125	MAN2B1	OMIM:248500
HP:0005619	Thoracolumbar kyphosis	2990	GUSB	OMIM:253220
HP:0005619	Thoracolumbar kyphosis	23219	FBXO28	OMIM:619777
HP:0005619	Thoracolumbar kyphosis	3930	LBR	OMIM:618019
HP:0005619	Thoracolumbar kyphosis	2720	GLB1	OMIM:230600
HP:0003440	Horizontal sacrum	3930	LBR	OMIM:215140
HP:0003440	Horizontal sacrum	1836	SLC26A2	OMIM:256050
HP:0003440	Horizontal sacrum	2317	FLNB	OMIM:108721
HP:0001283	Bulbar palsy	23299	BICD2	OMIM:615290
HP:0001283	Bulbar palsy	1145	CHRNE	OMIM:605809
HP:0001283	Bulbar palsy	91574	MTRFR	ORPHA:254930
HP:0001283	Bulbar palsy	7084	TK2	ORPHA:254875
HP:0001283	Bulbar palsy	10755	GIPC1	OMIM:618940
HP:0001283	Bulbar palsy	100131801	PET100	OMIM:619055
HP:0001283	Bulbar palsy	7072	TIA1	OMIM:619133
HP:0001283	Bulbar palsy	56203	LMOD3	OMIM:616165
HP:0001283	Bulbar palsy	1103	CHAT	OMIM:254210
HP:0001283	Bulbar palsy	1103	CHAT	ORPHA:98914
HP:0001283	Bulbar palsy	9782	MATR3	OMIM:606070
HP:0001283	Bulbar palsy	9782	MATR3	ORPHA:600
HP:0001283	Bulbar palsy	1305	COL13A1	OMIM:616720
HP:0001283	Bulbar palsy	1305	COL13A1	ORPHA:98914
HP:0001283	Bulbar palsy	400916	CHCHD10	OMIM:615911
HP:0001283	Bulbar palsy	400916	CHCHD10	ORPHA:275872
HP:0001283	Bulbar palsy	3098	HK1	OMIM:618547
HP:0001283	Bulbar palsy	113278	SLC52A3	OMIM:211500
HP:0001283	Bulbar palsy	113278	SLC52A3	OMIM:211530
HP:0001283	Bulbar palsy	1134	CHRNA1	OMIM:608930
HP:0001283	Bulbar palsy	4703	NEB	OMIM:256030
HP:0001283	Bulbar palsy	2521	FUS	ORPHA:275872
HP:0001283	Bulbar palsy	8878	SQSTM1	ORPHA:275872
HP:0001283	Bulbar palsy	8878	SQSTM1	OMIM:616437
HP:0001283	Bulbar palsy	7415	VCP	ORPHA:275872
HP:0001283	Bulbar palsy	23435	TARDBP	ORPHA:275872
HP:0001283	Bulbar palsy	29110	TBK1	ORPHA:275872
HP:0001283	Bulbar palsy	29110	TBK1	OMIM:616439
HP:0001283	Bulbar palsy	58	ACTA1	OMIM:161800
HP:0001283	Bulbar palsy	79581	SLC52A2	OMIM:614707
HP:0001283	Bulbar palsy	10049	DNAJB6	OMIM:603511
HP:0001283	Bulbar palsy	215	ABCD1	OMIM:300100
HP:0001283	Bulbar palsy	60482	SLC5A7	OMIM:617143
HP:0001283	Bulbar palsy	60482	SLC5A7	ORPHA:98914
HP:0001283	Bulbar palsy	6576	SLC25A1	OMIM:618197
HP:0001283	Bulbar palsy	6576	SLC25A1	ORPHA:98914
HP:0001283	Bulbar palsy	1674	DES	OMIM:601419
HP:0001283	Bulbar palsy	7170	TPM3	OMIM:255310
HP:0001283	Bulbar palsy	9373	PLAA	ORPHA:521426
HP:0001283	Bulbar palsy	9373	PLAA	OMIM:617527
HP:0001283	Bulbar palsy	4649	MYO9A	ORPHA:98914
HP:0001283	Bulbar palsy	6843	VAMP1	ORPHA:98914
HP:0001283	Bulbar palsy	375790	AGRN	ORPHA:98914
HP:0001283	Bulbar palsy	127833	SYT2	ORPHA:98914
HP:0001283	Bulbar palsy	6572	SLC18A3	ORPHA:98914
HP:0001283	Bulbar palsy	6616	SNAP25	ORPHA:98914
HP:0001283	Bulbar palsy	367	AR	OMIM:313200
HP:0001283	Bulbar palsy	54822	TRPM7	OMIM:105500
HP:0001283	Bulbar palsy	2934	GSN	OMIM:105120
HP:0001283	Bulbar palsy	6310	ATXN1	OMIM:164400
HP:0001283	Bulbar palsy	285489	DOK7	OMIM:254300
HP:0001283	Bulbar palsy	410	ARSA	OMIM:250100
HP:0008944	Distal lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0008944	Distal lower limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	ORPHA:100984
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	OMIM:613708
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	OMIM:182600
HP:0008944	Distal lower limb amyotrophy	7528	YY1	ORPHA:506358
HP:0008944	Distal lower limb amyotrophy	23299	BICD2	ORPHA:363454
HP:0008944	Distal lower limb amyotrophy	8450	CUL4B	OMIM:300354
HP:0008944	Distal lower limb amyotrophy	23769	FLRT1	ORPHA:320406
HP:0008944	Distal lower limb amyotrophy	64837	KLC2	ORPHA:320406
HP:0008944	Distal lower limb amyotrophy	4099	MAG	OMIM:616680
HP:0008944	Distal lower limb amyotrophy	4099	MAG	ORPHA:459056
HP:0008944	Distal lower limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0008944	Distal lower limb amyotrophy	2318	FLNC	OMIM:614065
HP:0008944	Distal lower limb amyotrophy	26580	BSCL2	OMIM:619112
HP:0008944	Distal lower limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0008944	Distal lower limb amyotrophy	4311	MME	OMIM:617017
HP:0008944	Distal lower limb amyotrophy	57863	CADM3	OMIM:619519
HP:0008944	Distal lower limb amyotrophy	5165	PDK3	OMIM:300905
HP:0008944	Distal lower limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0008944	Distal lower limb amyotrophy	3315	HSPB1	OMIM:606595
HP:0008944	Distal lower limb amyotrophy	3315	HSPB1	ORPHA:99940
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276244
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276241
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276238
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	OMIM:302800
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	ORPHA:1175
HP:0008944	Distal lower limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0008944	Distal lower limb amyotrophy	4000	LMNA	OMIM:181350
HP:0008944	Distal lower limb amyotrophy	7879	RAB7A	OMIM:600882
HP:0008944	Distal lower limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0008944	Distal lower limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0008944	Distal lower limb amyotrophy	10342	TFG	ORPHA:431329
HP:0008944	Distal lower limb amyotrophy	8242	KDM5C	OMIM:300534
HP:0008944	Distal lower limb amyotrophy	3300	DNAJB2	OMIM:614881
HP:0008944	Distal lower limb amyotrophy	57679	ALS2	OMIM:205100
HP:0008944	Distal lower limb amyotrophy	7170	TPM3	OMIM:609284
HP:0008944	Distal lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0008944	Distal lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0008944	Distal lower limb amyotrophy	4556	MT-TE	ORPHA:2596
HP:0008944	Distal lower limb amyotrophy	3098	HK1	OMIM:605285
HP:0008944	Distal lower limb amyotrophy	126129	CPT1C	ORPHA:444099
HP:0008944	Distal lower limb amyotrophy	3798	KIF5A	ORPHA:100991
HP:0008944	Distal lower limb amyotrophy	59345	GNB4	OMIM:615185
HP:0008944	Distal lower limb amyotrophy	8557	TCAP	OMIM:601954
HP:0008944	Distal lower limb amyotrophy	64423	INF2	OMIM:614455
HP:0008944	Distal lower limb amyotrophy	16	AARS1	OMIM:613287
HP:0008944	Distal lower limb amyotrophy	7453	WARS1	OMIM:617721
HP:0008944	Distal lower limb amyotrophy	9131	AIFM1	OMIM:310490
HP:0008944	Distal lower limb amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0008944	Distal lower limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0008944	Distal lower limb amyotrophy	3852	KRT5	ORPHA:79396
HP:0008944	Distal lower limb amyotrophy	3861	KRT14	ORPHA:79396
HP:0008944	Distal lower limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0008944	Distal lower limb amyotrophy	9927	MFN2	ORPHA:99947
HP:0008944	Distal lower limb amyotrophy	121512	FGD4	OMIM:609311
HP:0008944	Distal lower limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0008944	Distal lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0008944	Distal lower limb amyotrophy	91574	MTRFR	OMIM:615035
HP:0008944	Distal lower limb amyotrophy	4625	MYH7	OMIM:160500
HP:0003443	Decreased size of nerve terminals	1134	CHRNA1	OMIM:601462
HP:0003443	Decreased size of nerve terminals	1134	CHRNA1	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	8292	COLQ	ORPHA:98915
HP:0003443	Decreased size of nerve terminals	8292	COLQ	OMIM:603034
HP:0003443	Decreased size of nerve terminals	3913	LAMB2	ORPHA:98915
HP:0003443	Decreased size of nerve terminals	2673	GFPT1	OMIM:608931
HP:0003443	Decreased size of nerve terminals	1145	CHRNE	OMIM:608931
HP:0003443	Decreased size of nerve terminals	1145	CHRNE	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	6329	SCN4A	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	4038	LRP4	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	1305	COL13A1	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	1140	CHRNB1	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	1144	CHRND	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	4593	MUSK	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	5913	RAPSN	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	375790	AGRN	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	221264	AK9	ORPHA:98913
HP:0003443	Decreased size of nerve terminals	285489	DOK7	ORPHA:98913
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309271
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309256
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309263
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309271
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309256
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309263
HP:0003444	EMG: chronic denervation signs	427	ASAH1	ORPHA:333
HP:0003444	EMG: chronic denervation signs	4358	MPV17	OMIM:618400
HP:0003444	EMG: chronic denervation signs	3094	HINT1	ORPHA:324442
HP:0003444	EMG: chronic denervation signs	57679	ALS2	OMIM:205100
HP:0003444	EMG: chronic denervation signs	81545	FBXO38	OMIM:615575
HP:0003444	EMG: chronic denervation signs	50717	DCAF8	OMIM:610100
HP:0003444	EMG: chronic denervation signs	5631	PRPS1	ORPHA:1187
HP:0003444	EMG: chronic denervation signs	55681	SCYL2	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	84570	COL25A1	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	57222	ERGIC1	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	7415	VCP	OMIM:613954
HP:0003444	EMG: chronic denervation signs	7415	VCP	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	9997	SCO2	ORPHA:521411
HP:0003444	EMG: chronic denervation signs	8398	PLA2G6	ORPHA:35069
HP:0003444	EMG: chronic denervation signs	8398	PLA2G6	OMIM:256600
HP:0003444	EMG: chronic denervation signs	6606	SMN1	OMIM:253400
HP:0003444	EMG: chronic denervation signs	6607	SMN2	OMIM:253400
HP:0003444	EMG: chronic denervation signs	26353	HSPB8	OMIM:608673
HP:0003444	EMG: chronic denervation signs	6687	SPG7	ORPHA:35689
HP:0003444	EMG: chronic denervation signs	6905	TBCE	ORPHA:496756
HP:0003444	EMG: chronic denervation signs	93627	TBCK	ORPHA:488632
HP:0003444	EMG: chronic denervation signs	79628	SH3TC2	ORPHA:99949
HP:0003444	EMG: chronic denervation signs	9927	MFN2	ORPHA:99947
HP:0003444	EMG: chronic denervation signs	3315	HSPB1	ORPHA:99940
HP:0003444	EMG: chronic denervation signs	9990	SLC12A6	OMIM:218000
HP:0003444	EMG: chronic denervation signs	3178	HNRNPA1	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	3181	HNRNPA2B1	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	4976	OPA1	ORPHA:1215
HP:0003445	EMG: neuropathic changes	410	ARSA	ORPHA:309271
HP:0003445	EMG: neuropathic changes	410	ARSA	ORPHA:309256
HP:0003445	EMG: neuropathic changes	410	ARSA	ORPHA:309263
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309271
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309256
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309263
HP:0003445	EMG: neuropathic changes	427	ASAH1	ORPHA:333
HP:0003445	EMG: neuropathic changes	4358	MPV17	OMIM:618400
HP:0003445	EMG: neuropathic changes	3094	HINT1	ORPHA:324442
HP:0003445	EMG: neuropathic changes	57679	ALS2	OMIM:205100
HP:0003445	EMG: neuropathic changes	81545	FBXO38	OMIM:615575
HP:0003445	EMG: neuropathic changes	50717	DCAF8	OMIM:610100
HP:0003445	EMG: neuropathic changes	5631	PRPS1	ORPHA:1187
HP:0003445	EMG: neuropathic changes	55681	SCYL2	ORPHA:1143
HP:0003445	EMG: neuropathic changes	84570	COL25A1	ORPHA:1143
HP:0003445	EMG: neuropathic changes	57222	ERGIC1	ORPHA:1143
HP:0003445	EMG: neuropathic changes	7415	VCP	OMIM:613954
HP:0003445	EMG: neuropathic changes	7415	VCP	ORPHA:52430
HP:0003445	EMG: neuropathic changes	9997	SCO2	ORPHA:521411
HP:0003445	EMG: neuropathic changes	8398	PLA2G6	ORPHA:35069
HP:0003445	EMG: neuropathic changes	8398	PLA2G6	OMIM:256600
HP:0003445	EMG: neuropathic changes	6606	SMN1	OMIM:253400
HP:0003445	EMG: neuropathic changes	6607	SMN2	OMIM:253400
HP:0003445	EMG: neuropathic changes	26353	HSPB8	OMIM:608673
HP:0003445	EMG: neuropathic changes	6687	SPG7	ORPHA:35689
HP:0003445	EMG: neuropathic changes	6905	TBCE	ORPHA:496756
HP:0003445	EMG: neuropathic changes	93627	TBCK	ORPHA:488632
HP:0003445	EMG: neuropathic changes	79628	SH3TC2	ORPHA:99949
HP:0003445	EMG: neuropathic changes	9927	MFN2	ORPHA:99947
HP:0003445	EMG: neuropathic changes	3315	HSPB1	ORPHA:99940
HP:0003445	EMG: neuropathic changes	9990	SLC12A6	OMIM:218000
HP:0003445	EMG: neuropathic changes	3178	HNRNPA1	ORPHA:52430
HP:0003445	EMG: neuropathic changes	3181	HNRNPA2B1	ORPHA:52430
HP:0003445	EMG: neuropathic changes	4976	OPA1	ORPHA:1215
HP:0003445	EMG: neuropathic changes	1200	TPP1	ORPHA:284324
HP:0003445	EMG: neuropathic changes	87178	PNPT1	ORPHA:101111
HP:0003445	EMG: neuropathic changes	1778	DYNC1H1	OMIM:158600
HP:0003445	EMG: neuropathic changes	23345	SYNE1	ORPHA:88644
HP:0003445	EMG: neuropathic changes	8988	HSPB3	OMIM:613376
HP:0003445	EMG: neuropathic changes	7317	UBA1	ORPHA:1145
HP:0003445	EMG: neuropathic changes	4744	NEFH	OMIM:616924
HP:0003445	EMG: neuropathic changes	4703	NEB	OMIM:256030
HP:0003445	EMG: neuropathic changes	58	ACTA1	OMIM:161800
HP:0003445	EMG: neuropathic changes	200205	IBA57	ORPHA:468661
HP:0003445	EMG: neuropathic changes	9217	VAPB	OMIM:182980
HP:0003445	EMG: neuropathic changes	538	ATP7A	OMIM:300489
HP:0003445	EMG: neuropathic changes	10528	NOP56	OMIM:614153
HP:0003445	EMG: neuropathic changes	80208	SPG11	ORPHA:2822
HP:0003445	EMG: neuropathic changes	57449	PLEKHG5	OMIM:611067
HP:0003445	EMG: neuropathic changes	23230	VPS13A	ORPHA:2388
HP:0003445	EMG: neuropathic changes	400916	CHCHD10	ORPHA:276435
HP:0003445	EMG: neuropathic changes	2705	GJB1	ORPHA:1175
HP:0003445	EMG: neuropathic changes	5376	PMP22	ORPHA:98916
HP:0003445	EMG: neuropathic changes	7443	VRK1	OMIM:607596
HP:0003445	EMG: neuropathic changes	3508	IGHMBP2	OMIM:604320
HP:0003445	EMG: neuropathic changes	54332	GDAP1	OMIM:608340
HP:0003445	EMG: neuropathic changes	203859	ANO5	ORPHA:206549
HP:0003445	EMG: neuropathic changes	4625	MYH7	OMIM:160500
HP:0003445	EMG: neuropathic changes	11155	LDB3	OMIM:609452
HP:0003445	EMG: neuropathic changes	8729	GBF1	OMIM:606483
HP:0007267	Chronic axonal neuropathy	10558	SPTLC1	OMIM:162400
HP:0007267	Chronic axonal neuropathy	84342	COG8	ORPHA:95428
HP:0007267	Chronic axonal neuropathy	54332	GDAP1	ORPHA:99948
HP:0007267	Chronic axonal neuropathy	54332	GDAP1	ORPHA:101097
HP:0007267	Chronic axonal neuropathy	23064	SETX	OMIM:606002
HP:0007267	Chronic axonal neuropathy	3315	HSPB1	OMIM:606595
HP:0007267	Chronic axonal neuropathy	3766	KCNJ10	OMIM:612780
HP:0007267	Chronic axonal neuropathy	23345	SYNE1	ORPHA:88644
HP:0003448	Decreased sensory nerve conduction velocity	5428	POLG	ORPHA:298
HP:0003448	Decreased sensory nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0003448	Decreased sensory nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0003448	Decreased sensory nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0003448	Decreased sensory nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0003448	Decreased sensory nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0003448	Decreased sensory nerve conduction velocity	54463	RETREG1	OMIM:201300
HP:0003448	Decreased sensory nerve conduction velocity	65125	WNK1	OMIM:201300
HP:0003448	Decreased sensory nerve conduction velocity	6335	SCN9A	OMIM:201300
HP:0003448	Decreased sensory nerve conduction velocity	547	KIF1A	OMIM:201300
HP:0003448	Decreased sensory nerve conduction velocity	55768	NGLY1	OMIM:615273
HP:0003448	Decreased sensory nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0003448	Decreased sensory nerve conduction velocity	91574	MTRFR	ORPHA:320375
HP:0003448	Decreased sensory nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0003448	Decreased sensory nerve conduction velocity	2395	FXN	OMIM:229300
HP:0003448	Decreased sensory nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0003448	Decreased sensory nerve conduction velocity	10730	YME1L1	OMIM:617302
HP:0003448	Decreased sensory nerve conduction velocity	54332	GDAP1	OMIM:214400
HP:0003448	Decreased sensory nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0003448	Decreased sensory nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0003448	Decreased sensory nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0003448	Decreased sensory nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0003448	Decreased sensory nerve conduction velocity	57716	PRX	OMIM:145900
HP:0003448	Decreased sensory nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0003448	Decreased sensory nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0003448	Decreased sensory nerve conduction velocity	26278	SACS	OMIM:270550
HP:0003448	Decreased sensory nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0003448	Decreased sensory nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0003448	Decreased sensory nerve conduction velocity	28982	FLVCR1	OMIM:609033
HP:0003449	Cold-induced muscle cramps	2617	GARS1	OMIM:600794
HP:0003449	Cold-induced muscle cramps	2617	GARS1	ORPHA:139536
HP:0003449	Cold-induced muscle cramps	2617	GARS1	OMIM:601472
HP:0003449	Cold-induced muscle cramps	26580	BSCL2	ORPHA:139536
HP:0003449	Cold-induced muscle cramps	65055	REEP1	ORPHA:139536
HP:0003449	Cold-induced muscle cramps	5376	PMP22	OMIM:118220
HP:0003449	Cold-induced muscle cramps	400916	CHCHD10	ORPHA:276435
HP:0003449	Cold-induced muscle cramps	1376	CPT2	ORPHA:228302
HP:0003449	Cold-induced muscle cramps	1376	CPT2	ORPHA:228305
HP:0003449	Cold-induced muscle cramps	4359	MPZ	OMIM:118200
HP:0003450	Axonal regeneration	54332	GDAP1	OMIM:607831
HP:0003450	Axonal regeneration	56704	JPH1	OMIM:607831
HP:0003450	Axonal regeneration	59345	GNB4	OMIM:615185
HP:0003450	Axonal regeneration	8565	YARS1	OMIM:608323
HP:0003450	Axonal regeneration	3098	HK1	OMIM:605285
HP:0003450	Axonal regeneration	4747	NEFL	OMIM:607734
HP:0003450	Axonal regeneration	4000	LMNA	ORPHA:98856
HP:0003451	Increased rate of premature chromosome condensation	79648	MCPH1	OMIM:251200
HP:0003452	Increased serum iron	9493	KIF23	ORPHA:98870
HP:0003452	Increased serum iron	29127	RACGAP1	ORPHA:98870
HP:0003452	Increased serum iron	617	BCS1L	OMIM:603358
HP:0003452	Increased serum iron	55240	STEAP3	ORPHA:300298
HP:0003452	Increased serum iron	9652	SKIC3	OMIM:222470
HP:0003452	Increased serum iron	4891	SLC11A2	OMIM:206100
HP:0003452	Increased serum iron	57817	HAMP	OMIM:613313
HP:0003452	Increased serum iron	148738	HJV	OMIM:602390
HP:0003452	Increased serum iron	2495	FTH1	OMIM:615517
HP:0003452	Increased serum iron	7036	TFR2	OMIM:604250
HP:0003452	Increased serum iron	3077	HFE	OMIM:235200
HP:0003452	Increased serum iron	650	BMP2	OMIM:235200
HP:0003452	Increased serum iron	5313	PKLR	ORPHA:766
HP:0003453	Antineutrophil antibody positivity	51311	TLR8	OMIM:301078
HP:0003453	Antineutrophil antibody positivity	10312	TCIRG1	ORPHA:486
HP:0003453	Antineutrophil antibody positivity	1991	ELANE	ORPHA:486
HP:0003453	Antineutrophil antibody positivity	2672	GFI1	ORPHA:486
HP:0003453	Antineutrophil antibody positivity	6729	SRP54	ORPHA:486
HP:0003453	Antineutrophil antibody positivity	81570	CLPB	ORPHA:486
HP:0003453	Antineutrophil antibody positivity	2215	FCGR3B	ORPHA:464370
HP:0003453	Antineutrophil antibody positivity	355	FAS	ORPHA:3261
HP:0003453	Antineutrophil antibody positivity	355	FAS	OMIM:601859
HP:0003453	Antineutrophil antibody positivity	356	FASLG	ORPHA:3261
HP:0003453	Antineutrophil antibody positivity	356	FASLG	OMIM:601859
HP:0003453	Antineutrophil antibody positivity	5580	PRKCD	ORPHA:3261
HP:0003453	Antineutrophil antibody positivity	843	CASP10	ORPHA:3261
HP:0003453	Antineutrophil antibody positivity	843	CASP10	OMIM:603909
HP:0003453	Antineutrophil antibody positivity	10125	RASGRP1	ORPHA:3261
HP:0003453	Antineutrophil antibody positivity	6775	STAT4	ORPHA:93552
HP:0003453	Antineutrophil antibody positivity	6696	SPP1	ORPHA:93552
HP:0003453	Antineutrophil antibody positivity	3654	IRAK1	ORPHA:93552
HP:0003453	Antineutrophil antibody positivity	83737	ITCH	ORPHA:228426
HP:0003453	Antineutrophil antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0003453	Antineutrophil antibody positivity	10095	ARPC1B	OMIM:617718
HP:0003453	Antineutrophil antibody positivity	60468	BACH2	OMIM:618394
HP:0003453	Antineutrophil antibody positivity	50619	DEF6	OMIM:619573
HP:0003453	Antineutrophil antibody positivity	340061	STING1	OMIM:615934
HP:0003453	Antineutrophil antibody positivity	440275	EIF2AK4	ORPHA:199241
HP:0003453	Antineutrophil antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0003454	Platelet antibody positive	843	CASP10	OMIM:603909
HP:0003454	Platelet antibody positive	355	FAS	OMIM:601859
HP:0003454	Platelet antibody positive	356	FASLG	OMIM:601859
HP:0003455	Elevated circulating long chain fatty acid concentration	5830	PEX5	OMIM:202370
HP:0003455	Elevated circulating long chain fatty acid concentration	5830	PEX5	OMIM:214110
HP:0003455	Elevated circulating long chain fatty acid concentration	1376	CPT2	OMIM:608836
HP:0003455	Elevated circulating long chain fatty acid concentration	1376	CPT2	ORPHA:228302
HP:0003455	Elevated circulating long chain fatty acid concentration	215	ABCD1	OMIM:300100
HP:0003455	Elevated circulating long chain fatty acid concentration	5824	PEX19	OMIM:614886
HP:0003455	Elevated circulating long chain fatty acid concentration	5189	PEX1	OMIM:214100
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	OMIM:612462
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	OMIM:603233
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	OMIM:103580
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	ORPHA:94089
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	ORPHA:79443
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS	ORPHA:79444
HP:0003456	Low urinary cyclic AMP response to PTH administration	5573	PRKAR1A	ORPHA:280651
HP:0003456	Low urinary cyclic AMP response to PTH administration	5144	PDE4D	ORPHA:280651
HP:0003456	Low urinary cyclic AMP response to PTH administration	149775	GNAS-AS1	OMIM:603233
HP:0003456	Low urinary cyclic AMP response to PTH administration	8675	STX16	OMIM:603233
HP:0003456	Low urinary cyclic AMP response to PTH administration	8675	STX16	ORPHA:94089
HP:0003457	EMG abnormality	10290	SPEG	ORPHA:169186
HP:0003457	EMG abnormality	8292	COLQ	ORPHA:98915
HP:0003457	EMG abnormality	8292	COLQ	OMIM:603034
HP:0003457	EMG abnormality	3913	LAMB2	ORPHA:98915
HP:0003457	EMG abnormality	4632	MYL1	OMIM:618414
HP:0003457	EMG abnormality	410	ARSA	ORPHA:309271
HP:0003457	EMG abnormality	410	ARSA	ORPHA:309256
HP:0003457	EMG abnormality	410	ARSA	ORPHA:309263
HP:0003457	EMG abnormality	5660	PSAP	ORPHA:309271
HP:0003457	EMG abnormality	5660	PSAP	ORPHA:309256
HP:0003457	EMG abnormality	5660	PSAP	ORPHA:309263
HP:0003457	EMG abnormality	427	ASAH1	ORPHA:333
HP:0003457	EMG abnormality	4358	MPV17	OMIM:618400
HP:0003457	EMG abnormality	3094	HINT1	ORPHA:324442
HP:0003457	EMG abnormality	57679	ALS2	OMIM:205100
HP:0003457	EMG abnormality	81545	FBXO38	OMIM:615575
HP:0003457	EMG abnormality	50717	DCAF8	OMIM:610100
HP:0003457	EMG abnormality	5631	PRPS1	ORPHA:1187
HP:0003457	EMG abnormality	55681	SCYL2	ORPHA:1143
HP:0003457	EMG abnormality	84570	COL25A1	ORPHA:1143
HP:0003457	EMG abnormality	57222	ERGIC1	ORPHA:1143
HP:0003457	EMG abnormality	7415	VCP	OMIM:613954
HP:0003457	EMG abnormality	7415	VCP	ORPHA:52430
HP:0003457	EMG abnormality	9997	SCO2	ORPHA:521411
HP:0003457	EMG abnormality	8398	PLA2G6	ORPHA:35069
HP:0003457	EMG abnormality	8398	PLA2G6	OMIM:256600
HP:0003457	EMG abnormality	6606	SMN1	OMIM:253400
HP:0003457	EMG abnormality	6607	SMN2	OMIM:253400
HP:0003457	EMG abnormality	26353	HSPB8	OMIM:608673
HP:0003457	EMG abnormality	6687	SPG7	ORPHA:35689
HP:0003457	EMG abnormality	6905	TBCE	ORPHA:496756
HP:0003457	EMG abnormality	93627	TBCK	ORPHA:488632
HP:0003457	EMG abnormality	79628	SH3TC2	ORPHA:99949
HP:0003457	EMG abnormality	9927	MFN2	ORPHA:99947
HP:0003457	EMG abnormality	3315	HSPB1	ORPHA:99940
HP:0003457	EMG abnormality	9990	SLC12A6	OMIM:218000
HP:0003457	EMG abnormality	3178	HNRNPA1	ORPHA:52430
HP:0003457	EMG abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0003457	EMG abnormality	4976	OPA1	ORPHA:1215
HP:0003457	EMG abnormality	1200	TPP1	ORPHA:284324
HP:0003457	EMG abnormality	87178	PNPT1	ORPHA:101111
HP:0003457	EMG abnormality	1778	DYNC1H1	OMIM:158600
HP:0003457	EMG abnormality	23345	SYNE1	ORPHA:88644
HP:0003457	EMG abnormality	8988	HSPB3	OMIM:613376
HP:0003457	EMG abnormality	7317	UBA1	ORPHA:1145
HP:0003457	EMG abnormality	4744	NEFH	OMIM:616924
HP:0003457	EMG abnormality	4703	NEB	OMIM:256030
HP:0003457	EMG abnormality	58	ACTA1	OMIM:161800
HP:0003457	EMG abnormality	200205	IBA57	ORPHA:468661
HP:0003457	EMG abnormality	9217	VAPB	OMIM:182980
HP:0003457	EMG abnormality	538	ATP7A	OMIM:300489
HP:0003457	EMG abnormality	10528	NOP56	OMIM:614153
HP:0003457	EMG abnormality	80208	SPG11	ORPHA:2822
HP:0003457	EMG abnormality	57449	PLEKHG5	OMIM:611067
HP:0003457	EMG abnormality	23230	VPS13A	ORPHA:2388
HP:0003457	EMG abnormality	400916	CHCHD10	ORPHA:276435
HP:0003457	EMG abnormality	2705	GJB1	ORPHA:1175
HP:0003457	EMG abnormality	5376	PMP22	ORPHA:98916
HP:0003457	EMG abnormality	7443	VRK1	OMIM:607596
HP:0003457	EMG abnormality	3508	IGHMBP2	OMIM:604320
HP:0003457	EMG abnormality	54332	GDAP1	OMIM:608340
HP:0003457	EMG abnormality	4625	MYH7	OMIM:160500
HP:0003457	EMG abnormality	11155	LDB3	OMIM:609452
HP:0003457	EMG abnormality	8729	GBF1	OMIM:606483
HP:0003457	EMG abnormality	4558	MT-TF	ORPHA:551
HP:0003457	EMG abnormality	4567	MT-TL1	ORPHA:551
HP:0003457	EMG abnormality	4567	MT-TL1	ORPHA:663
HP:0003457	EMG abnormality	4567	MT-TL1	ORPHA:480
HP:0003457	EMG abnormality	4549	MT-RNR1	ORPHA:551
HP:0003457	EMG abnormality	4574	MT-TS1	ORPHA:551
HP:0003457	EMG abnormality	4574	MT-TS1	ORPHA:663
HP:0003457	EMG abnormality	4575	MT-TS2	ORPHA:551
HP:0003457	EMG abnormality	4571	MT-TP	ORPHA:551
HP:0003457	EMG abnormality	4572	MT-TQ	ORPHA:551
HP:0003457	EMG abnormality	4540	MT-ND5	ORPHA:551
HP:0003457	EMG abnormality	4566	MT-TK	ORPHA:551
HP:0003457	EMG abnormality	4566	MT-TK	ORPHA:1349
HP:0003457	EMG abnormality	4564	MT-TH	ORPHA:551
HP:0003457	EMG abnormality	2218	FKTN	ORPHA:272
HP:0003457	EMG abnormality	2218	FKTN	ORPHA:154
HP:0003457	EMG abnormality	2218	FKTN	ORPHA:588
HP:0003457	EMG abnormality	9015	TAF1A	ORPHA:154
HP:0003457	EMG abnormality	5663	PSEN1	ORPHA:154
HP:0003457	EMG abnormality	6389	SDHA	ORPHA:154
HP:0003457	EMG abnormality	7112	TMPO	ORPHA:154
HP:0003457	EMG abnormality	9464	HAND2	ORPHA:154
HP:0003457	EMG abnormality	88	ACTN2	ORPHA:154
HP:0003457	EMG abnormality	10486	CAP2	ORPHA:154
HP:0003457	EMG abnormality	10060	ABCC9	ORPHA:154
HP:0003457	EMG abnormality	7168	TPM1	ORPHA:154
HP:0003457	EMG abnormality	7414	VCL	ORPHA:154
HP:0003457	EMG abnormality	1832	DSP	ORPHA:154
HP:0003457	EMG abnormality	70	ACTC1	ORPHA:154
HP:0003457	EMG abnormality	27063	ANKRD1	ORPHA:154
HP:0003457	EMG abnormality	8048	CSRP3	ORPHA:154
HP:0003457	EMG abnormality	1410	CRYAB	ORPHA:154
HP:0003457	EMG abnormality	7139	TNNT2	ORPHA:154
HP:0003457	EMG abnormality	1829	DSG2	ORPHA:154
HP:0003457	EMG abnormality	3910	LAMA4	ORPHA:154
HP:0003457	EMG abnormality	63976	PRDM16	ORPHA:154
HP:0003457	EMG abnormality	7273	TTN	ORPHA:154
HP:0003457	EMG abnormality	10587	TXNRD2	ORPHA:154
HP:0003457	EMG abnormality	9531	BAG3	ORPHA:154
HP:0003457	EMG abnormality	5350	PLN	ORPHA:154
HP:0003457	EMG abnormality	91624	NEXN	ORPHA:154
HP:0003457	EMG abnormality	79717	PPCS	ORPHA:154
HP:0003457	EMG abnormality	5664	PSEN2	ORPHA:154
HP:0003457	EMG abnormality	4624	MYH6	ORPHA:154
HP:0003457	EMG abnormality	9529	BAG5	ORPHA:154
HP:0003457	EMG abnormality	4607	MYBPC3	ORPHA:154
HP:0003457	EMG abnormality	282996	RBM20	ORPHA:154
HP:0003457	EMG abnormality	7137	TNNI3	ORPHA:154
HP:0003457	EMG abnormality	2274	FHL2	ORPHA:154
HP:0003457	EMG abnormality	6901	TAFAZZIN	ORPHA:154
HP:0003457	EMG abnormality	22845	DOLK	ORPHA:154
HP:0003457	EMG abnormality	5894	RAF1	ORPHA:154
HP:0003457	EMG abnormality	1756	DMD	ORPHA:154
HP:0003457	EMG abnormality	57798	GATAD1	ORPHA:154
HP:0003457	EMG abnormality	7134	TNNC1	ORPHA:154
HP:0003457	EMG abnormality	84665	MYPN	ORPHA:154
HP:0003457	EMG abnormality	1674	DES	ORPHA:154
HP:0003457	EMG abnormality	6444	SGCD	ORPHA:154
HP:0003457	EMG abnormality	6331	SCN5A	ORPHA:154
HP:0003457	EMG abnormality	8557	TCAP	ORPHA:154
HP:0003457	EMG abnormality	9897	WASHC5	ORPHA:100989
HP:0003457	EMG abnormality	9197	SLC33A1	ORPHA:171863
HP:0003457	EMG abnormality	8518	ELP1	ORPHA:1764
HP:0003457	EMG abnormality	859	CAV3	OMIM:606072
HP:0003457	EMG abnormality	3912	LAMB1	ORPHA:352682
HP:0003457	EMG abnormality	2767	GNA11	ORPHA:428
HP:0003457	EMG abnormality	846	CASR	ORPHA:428
HP:0003457	EMG abnormality	4287	ATXN3	ORPHA:276244
HP:0003457	EMG abnormality	100134444	KCNJ18	ORPHA:79102
HP:0003457	EMG abnormality	2556	GABRA3	ORPHA:79102
HP:0003457	EMG abnormality	779	CACNA1S	ORPHA:79102
HP:0003457	EMG abnormality	779	CACNA1S	ORPHA:681
HP:0003457	EMG abnormality	9935	MAFB	ORPHA:2774
HP:0003457	EMG abnormality	22947	DUX4L1	ORPHA:269
HP:0003457	EMG abnormality	1789	DNMT3B	ORPHA:269
HP:0003457	EMG abnormality	2483	FRG1	ORPHA:269
HP:0003457	EMG abnormality	23347	SMCHD1	ORPHA:269
HP:0003457	EMG abnormality	100288687	DUX4	ORPHA:269
HP:0003457	EMG abnormality	148789	B3GALNT2	ORPHA:588
HP:0003457	EMG abnormality	79147	FKRP	ORPHA:588
HP:0003457	EMG abnormality	9215	LARGE1	ORPHA:588
HP:0003457	EMG abnormality	29954	POMT2	ORPHA:588
HP:0003457	EMG abnormality	55624	POMGNT1	ORPHA:588
HP:0003457	EMG abnormality	10585	POMT1	ORPHA:588
HP:0003457	EMG abnormality	4568	MT-TL2	ORPHA:663
HP:0003457	EMG abnormality	4570	MT-TN	ORPHA:663
HP:0003457	EMG abnormality	112	ADCY6	ORPHA:2680
HP:0003457	EMG abnormality	163175	LGI4	ORPHA:2680
HP:0003457	EMG abnormality	8506	CNTNAP1	ORPHA:2680
HP:0003457	EMG abnormality	6566	SLC16A1	OMIM:245340
HP:0003457	EMG abnormality	56997	COQ8A	ORPHA:139485
HP:0003457	EMG abnormality	100996717	NOTCH2NLC	ORPHA:2289
HP:0003457	EMG abnormality	22954	TRIM32	ORPHA:1878
HP:0003457	EMG abnormality	3908	LAMA2	ORPHA:258
HP:0003457	EMG abnormality	3736	KCNA1	ORPHA:972
HP:0003457	EMG abnormality	55129	ANO10	ORPHA:284289
HP:0003457	EMG abnormality	4942	OAT	OMIM:258870
HP:0003457	EMG abnormality	9782	MATR3	ORPHA:600
HP:0003457	EMG abnormality	80324	PUS1	ORPHA:2598
HP:0003457	EMG abnormality	51067	YARS2	ORPHA:2598
HP:0003457	EMG abnormality	2632	GBE1	ORPHA:206583
HP:0003457	EMG abnormality	51663	ZFR	ORPHA:401840
HP:0003457	EMG abnormality	6253	RTN2	ORPHA:100993
HP:0003457	EMG abnormality	51271	UBAP1	ORPHA:100993
HP:0003457	EMG abnormality	126129	CPT1C	ORPHA:444099
HP:0003457	EMG abnormality	10008	KCNE3	ORPHA:681
HP:0003457	EMG abnormality	3839	KPNA3	ORPHA:171612
HP:0003457	EMG abnormality	4509	MT-ATP8	ORPHA:480
HP:0003457	EMG abnormality	50484	RRM2B	ORPHA:480
HP:0003457	EMG abnormality	65250	CPLANE1	ORPHA:65684
HP:0003457	EMG abnormality	57562	CEP126	ORPHA:65684
HP:0003457	EMG abnormality	10801	SEPTIN9	ORPHA:2901
HP:0003457	EMG abnormality	4089	SMAD4	ORPHA:2588
HP:0003457	EMG abnormality	291	SLC25A4	ORPHA:254892
HP:0003457	EMG abnormality	291	SLC25A4	OMIM:609283
HP:0003457	EMG abnormality	291	SLC25A4	OMIM:615418
HP:0003457	EMG abnormality	5428	POLG	ORPHA:254892
HP:0003457	EMG abnormality	5428	POLG	OMIM:258450
HP:0003457	EMG abnormality	5428	POLG	OMIM:157640
HP:0003457	EMG abnormality	56652	TWNK	ORPHA:254892
HP:0003457	EMG abnormality	56652	TWNK	OMIM:609286
HP:0003457	EMG abnormality	11232	POLG2	ORPHA:254892
HP:0003457	EMG abnormality	353116	RILPL1	OMIM:619790
HP:0003457	EMG abnormality	4747	NEFL	ORPHA:99939
HP:0003457	EMG abnormality	8291	DYSF	OMIM:253601
HP:0003457	EMG abnormality	274	BIN1	ORPHA:169189
HP:0003457	EMG abnormality	274	BIN1	OMIM:255200
HP:0003457	EMG abnormality	4618	MYF6	ORPHA:169189
HP:0003457	EMG abnormality	6261	RYR1	ORPHA:169189
HP:0003457	EMG abnormality	6261	RYR1	ORPHA:424107
HP:0003457	EMG abnormality	6442	SGCA	OMIM:608099
HP:0003457	EMG abnormality	1303	COL12A1	ORPHA:75840
HP:0003457	EMG abnormality	1303	COL12A1	ORPHA:610
HP:0003457	EMG abnormality	1291	COL6A1	ORPHA:75840
HP:0003457	EMG abnormality	1291	COL6A1	ORPHA:610
HP:0003457	EMG abnormality	1292	COL6A2	ORPHA:75840
HP:0003457	EMG abnormality	1292	COL6A2	ORPHA:610
HP:0003457	EMG abnormality	1293	COL6A3	ORPHA:75840
HP:0003457	EMG abnormality	1293	COL6A3	ORPHA:610
HP:0003457	EMG abnormality	9499	MYOT	ORPHA:266
HP:0003457	EMG abnormality	9499	MYOT	ORPHA:98911
HP:0003457	EMG abnormality	5339	PLEC	ORPHA:254361
HP:0003457	EMG abnormality	6840	SVIL	OMIM:619040
HP:0003457	EMG abnormality	3714	JAG2	OMIM:619566
HP:0003457	EMG abnormality	10324	KLHL41	ORPHA:171433
HP:0003457	EMG abnormality	10324	KLHL41	ORPHA:171439
HP:0003457	EMG abnormality	7170	TPM3	ORPHA:171433
HP:0003457	EMG abnormality	7170	TPM3	OMIM:609284
HP:0003457	EMG abnormality	7170	TPM3	ORPHA:171439
HP:0003457	EMG abnormality	84466	MEGF10	OMIM:614399
HP:0003457	EMG abnormality	2260	FGFR1	ORPHA:280200
HP:0003457	EMG abnormality	28514	DLL1	ORPHA:280200
HP:0003457	EMG abnormality	2253	FGF8	ORPHA:280200
HP:0003457	EMG abnormality	6496	SIX3	ORPHA:280200
HP:0003457	EMG abnormality	7050	TGIF1	ORPHA:280200
HP:0003457	EMG abnormality	4838	NODAL	ORPHA:280200
HP:0003457	EMG abnormality	6469	SHH	ORPHA:280200
HP:0003457	EMG abnormality	51684	SUFU	ORPHA:280200
HP:0003457	EMG abnormality	7546	ZIC2	ORPHA:280200
HP:0003457	EMG abnormality	2619	GAS1	ORPHA:280200
HP:0003457	EMG abnormality	84976	DISP1	ORPHA:280200
HP:0003457	EMG abnormality	2736	GLI2	ORPHA:280200
HP:0003457	EMG abnormality	8928	FOXH1	ORPHA:280200
HP:0003457	EMG abnormality	5727	PTCH1	ORPHA:280200
HP:0003457	EMG abnormality	50937	CDON	ORPHA:280200
HP:0003457	EMG abnormality	2273	FHL1	OMIM:300696
HP:0003457	EMG abnormality	2273	FHL1	ORPHA:98863
HP:0003457	EMG abnormality	8878	SQSTM1	OMIM:617158
HP:0003457	EMG abnormality	8878	SQSTM1	ORPHA:603
HP:0003457	EMG abnormality	146862	UNC45B	OMIM:619178
HP:0003457	EMG abnormality	7084	TK2	OMIM:609560
HP:0003457	EMG abnormality	64856	VWA1	OMIM:619216
HP:0003457	EMG abnormality	4604	MYBPC1	OMIM:618524
HP:0003457	EMG abnormality	7072	TIA1	ORPHA:603
HP:0003457	EMG abnormality	5351	PLOD1	ORPHA:1900
HP:0003457	EMG abnormality	128989	TANGO2	ORPHA:480864
HP:0003457	EMG abnormality	2992	GYG1	ORPHA:263297
HP:0003457	EMG abnormality	729920	CRPPA	ORPHA:370980
HP:0003457	EMG abnormality	55154	MSTO1	ORPHA:502423
HP:0003457	EMG abnormality	28976	ACAD9	ORPHA:99901
HP:0003457	EMG abnormality	79784	MYH14	ORPHA:397744
HP:0003457	EMG abnormality	10755	GIPC1	OMIM:618940
HP:0003457	EMG abnormality	8087	FXR1	OMIM:618822
HP:0003457	EMG abnormality	259232	NALCN	ORPHA:371364
HP:0003457	EMG abnormality	285175	UNC80	ORPHA:371364
HP:0003457	EMG abnormality	55958	KLHL9	ORPHA:399081
HP:0003457	EMG abnormality	51128	SAR1B	ORPHA:71
HP:0003457	EMG abnormality	1134	CHRNA1	ORPHA:98913
HP:0003457	EMG abnormality	4038	LRP4	ORPHA:98913
HP:0003457	EMG abnormality	1140	CHRNB1	ORPHA:98913
HP:0003457	EMG abnormality	1144	CHRND	ORPHA:98913
HP:0003457	EMG abnormality	1145	CHRNE	ORPHA:98913
HP:0003457	EMG abnormality	4593	MUSK	ORPHA:98913
HP:0003457	EMG abnormality	5913	RAPSN	ORPHA:98913
HP:0003457	EMG abnormality	221264	AK9	ORPHA:98913
HP:0003457	EMG abnormality	285489	DOK7	ORPHA:98913
HP:0003457	EMG abnormality	3920	LAMP2	OMIM:300257
HP:0003457	EMG abnormality	51099	ABHD5	ORPHA:98907
HP:0003457	EMG abnormality	7169	TPM2	ORPHA:171439
HP:0003457	EMG abnormality	390594	KBTBD13	ORPHA:171439
HP:0003457	EMG abnormality	844	CASQ1	ORPHA:2593
HP:0003457	EMG abnormality	84876	ORAI1	ORPHA:2593
HP:0003457	EMG abnormality	6786	STIM1	ORPHA:2593
HP:0003457	EMG abnormality	7138	TNNT1	ORPHA:98902
HP:0003457	EMG abnormality	2010	EMD	ORPHA:98863
HP:0003457	EMG abnormality	226	ALDOA	ORPHA:57
HP:0003457	EMG abnormality	8449	DHX16	OMIM:618733
HP:0003457	EMG abnormality	23534	TNPO3	OMIM:608423
HP:0003457	EMG abnormality	9325	TRIP4	ORPHA:486815
HP:0003457	EMG abnormality	79188	TMEM43	ORPHA:98853
HP:0003457	EMG abnormality	23224	SYNE2	ORPHA:98853
HP:0003457	EMG abnormality	5165	PDK3	ORPHA:352675
HP:0003457	EMG abnormality	1593	CYP27A1	OMIM:213700
HP:0003457	EMG abnormality	23400	ATP13A2	ORPHA:513436
HP:0003457	EMG abnormality	4000	LMNA	ORPHA:98856
HP:0003457	EMG abnormality	6445	SGCG	ORPHA:353
HP:0003457	EMG abnormality	1180	CLCN1	OMIM:160800
HP:0003457	EMG abnormality	1180	CLCN1	OMIM:255700
HP:0003457	EMG abnormality	203859	ANO5	ORPHA:206549
HP:0003457	EMG abnormality	23064	SETX	OMIM:602433
HP:0003457	EMG abnormality	10342	TFG	ORPHA:90117
HP:0003457	EMG abnormality	10133	OPTN	OMIM:613435
HP:0003457	EMG abnormality	311	ANXA11	OMIM:619733
HP:0003457	EMG abnormality	4929	NR4A2	OMIM:619911
HP:0003457	EMG abnormality	1785	DNM2	OMIM:160150
HP:0003457	EMG abnormality	64419	MTMR14	OMIM:160150
HP:0003457	EMG abnormality	10020	GNE	ORPHA:602
HP:0003457	EMG abnormality	199857	ALG14	OMIM:616227
HP:0003457	EMG abnormality	199857	ALG14	ORPHA:353327
HP:0003457	EMG abnormality	1305	COL13A1	OMIM:616720
HP:0003457	EMG abnormality	1798	DPAGT1	OMIM:614750
HP:0003457	EMG abnormality	1798	DPAGT1	ORPHA:353327
HP:0003457	EMG abnormality	6576	SLC25A1	OMIM:618197
HP:0003457	EMG abnormality	29925	GMPPB	ORPHA:353327
HP:0003457	EMG abnormality	2673	GFPT1	ORPHA:353327
HP:0003457	EMG abnormality	85365	ALG2	ORPHA:353327
HP:0003457	EMG abnormality	487	ATP2A1	OMIM:601003
HP:0003457	EMG abnormality	3339	HSPG2	OMIM:255800
HP:0003457	EMG abnormality	29967	LRP12	OMIM:164310
HP:0003457	EMG abnormality	6329	SCN4A	ORPHA:99734
HP:0003457	EMG abnormality	60482	SLC5A7	ORPHA:98914
HP:0003457	EMG abnormality	4649	MYO9A	ORPHA:98914
HP:0003457	EMG abnormality	1103	CHAT	ORPHA:98914
HP:0003457	EMG abnormality	6843	VAMP1	ORPHA:98914
HP:0003457	EMG abnormality	375790	AGRN	ORPHA:98914
HP:0003457	EMG abnormality	127833	SYT2	ORPHA:98914
HP:0003457	EMG abnormality	6572	SLC18A3	ORPHA:98914
HP:0003457	EMG abnormality	6616	SNAP25	ORPHA:98914
HP:0003457	EMG abnormality	776	CACNA1D	ORPHA:369929
HP:0003457	EMG abnormality	23312	DMXL2	ORPHA:453533
HP:0003457	EMG abnormality	10558	SPTLC1	ORPHA:36386
HP:0003457	EMG abnormality	25923	ATL3	ORPHA:36386
HP:0003457	EMG abnormality	9517	SPTLC2	ORPHA:36386
HP:0003457	EMG abnormality	51062	ATL1	ORPHA:36386
HP:0003459	Polyclonal elevation of IgM	2859	GPR35	ORPHA:171
HP:0003459	Polyclonal elevation of IgM	10507	SEMA4D	ORPHA:171
HP:0003459	Polyclonal elevation of IgM	4485	MST1	ORPHA:171
HP:0003459	Polyclonal elevation of IgM	6925	TCF4	ORPHA:171
HP:0003459	Polyclonal elevation of IgM	4615	MYD88	OMIM:153600
HP:0003459	Polyclonal elevation of IgM	200942	KLHDC8B	OMIM:236000
HP:0003460	Decreased circulating total IgA	6850	SYK	OMIM:619381
HP:0003460	Decreased circulating total IgA	10625	IVNS1ABP	OMIM:618969
HP:0003460	Decreased circulating total IgA	915	CD3D	ORPHA:169160
HP:0003460	Decreased circulating total IgA	916	CD3E	ORPHA:169160
HP:0003460	Decreased circulating total IgA	919	CD247	ORPHA:169160
HP:0003460	Decreased circulating total IgA	537	ATP6AP1	OMIM:300972
HP:0003460	Decreased circulating total IgA	5293	PIK3CD	ORPHA:221139
HP:0003460	Decreased circulating total IgA	90417	KNSTRN	ORPHA:221139
HP:0003461	Increased urinary O-linked sialopeptides	4668	NAGA	OMIM:609241
HP:0003461	Increased urinary O-linked sialopeptides	4668	NAGA	OMIM:609242
HP:0003461	Increased urinary O-linked sialopeptides	4758	NEU1	ORPHA:812
HP:0003461	Increased urinary O-linked sialopeptides	4758	NEU1	OMIM:256550
HP:0003462	Elevated 8-dehydrocholesterol	50814	NSDHL	OMIM:308050
HP:0003462	Elevated 8-dehydrocholesterol	10682	EBP	ORPHA:401973
HP:0003462	Elevated 8-dehydrocholesterol	10682	EBP	OMIM:302960
HP:0003463	Increased extraneuronal autofluorescent lipopigment	1201	CLN3	OMIM:204200
HP:0003463	Increased extraneuronal autofluorescent lipopigment	1200	TPP1	OMIM:204500
HP:0003107	Abnormal circulating cholesterol concentration	1718	DHCR24	OMIM:602398
HP:0003107	Abnormal circulating cholesterol concentration	3064	HTT	ORPHA:399
HP:0003107	Abnormal circulating cholesterol concentration	6515	SLC2A3	ORPHA:399
HP:0003107	Abnormal circulating cholesterol concentration	1583	CYP11A1	ORPHA:289548
HP:0003107	Abnormal circulating cholesterol concentration	1583	CYP11A1	ORPHA:168558
HP:0003107	Abnormal circulating cholesterol concentration	1593	CYP27A1	OMIM:213700
HP:0003107	Abnormal circulating cholesterol concentration	9420	CYP7B1	OMIM:270800
HP:0003107	Abnormal circulating cholesterol concentration	50814	NSDHL	ORPHA:251383
HP:0003107	Abnormal circulating cholesterol concentration	6309	SC5D	OMIM:607330
HP:0003107	Abnormal circulating cholesterol concentration	26160	IFT172	OMIM:619471
HP:0003107	Abnormal circulating cholesterol concentration	388015	RTL1	ORPHA:254531
HP:0003107	Abnormal circulating cholesterol concentration	388015	RTL1	ORPHA:96184
HP:0003107	Abnormal circulating cholesterol concentration	8788	DLK1	ORPHA:254531
HP:0003107	Abnormal circulating cholesterol concentration	8788	DLK1	ORPHA:96184
HP:0003107	Abnormal circulating cholesterol concentration	55384	MEG3	ORPHA:254531
HP:0003107	Abnormal circulating cholesterol concentration	55384	MEG3	ORPHA:96184
HP:0003107	Abnormal circulating cholesterol concentration	213	ALB	OMIM:616000
HP:0003107	Abnormal circulating cholesterol concentration	213	ALB	ORPHA:86816
HP:0003107	Abnormal circulating cholesterol concentration	23533	PIK3R5	ORPHA:64753
HP:0003107	Abnormal circulating cholesterol concentration	23064	SETX	ORPHA:64753
HP:0003107	Abnormal circulating cholesterol concentration	3990	LIPC	OMIM:614025
HP:0003107	Abnormal circulating cholesterol concentration	64240	ABCG5	OMIM:618666
HP:0003107	Abnormal circulating cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0003107	Abnormal circulating cholesterol concentration	57122	NUP107	OMIM:618348
HP:0003107	Abnormal circulating cholesterol concentration	57122	NUP107	OMIM:616730
HP:0003107	Abnormal circulating cholesterol concentration	5836	PYGL	OMIM:232700
HP:0003107	Abnormal circulating cholesterol concentration	857	CAV1	OMIM:612526
HP:0003107	Abnormal circulating cholesterol concentration	857	CAV1	ORPHA:528
HP:0003107	Abnormal circulating cholesterol concentration	857	CAV1	OMIM:606721
HP:0003107	Abnormal circulating cholesterol concentration	55775	TDP1	ORPHA:94124
HP:0003107	Abnormal circulating cholesterol concentration	55775	TDP1	OMIM:607250
HP:0003107	Abnormal circulating cholesterol concentration	4023	LPL	OMIM:238600
HP:0003107	Abnormal circulating cholesterol concentration	4023	LPL	OMIM:144250
HP:0003107	Abnormal circulating cholesterol concentration	4952	OCRL	OMIM:309000
HP:0003107	Abnormal circulating cholesterol concentration	4952	OCRL	ORPHA:534
HP:0003107	Abnormal circulating cholesterol concentration	5244	ABCB4	ORPHA:69663
HP:0003107	Abnormal circulating cholesterol concentration	182	JAG1	OMIM:118450
HP:0003107	Abnormal circulating cholesterol concentration	2314	FLII	ORPHA:819
HP:0003107	Abnormal circulating cholesterol concentration	23096	IQSEC2	ORPHA:819
HP:0003107	Abnormal circulating cholesterol concentration	10743	RAI1	ORPHA:819
HP:0003107	Abnormal circulating cholesterol concentration	10743	RAI1	OMIM:182290
HP:0003107	Abnormal circulating cholesterol concentration	10522	DEAF1	ORPHA:819
HP:0003107	Abnormal circulating cholesterol concentration	7274	TTPA	OMIM:277460
HP:0003107	Abnormal circulating cholesterol concentration	859	CAV3	ORPHA:488650
HP:0003107	Abnormal circulating cholesterol concentration	4205	MEF2A	OMIM:608320
HP:0003107	Abnormal circulating cholesterol concentration	2542	SLC37A4	ORPHA:79259
HP:0003107	Abnormal circulating cholesterol concentration	7252	TSHB	ORPHA:90674
HP:0003107	Abnormal circulating cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0003107	Abnormal circulating cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0003107	Abnormal circulating cholesterol concentration	64241	ABCG8	OMIM:210250
HP:0003107	Abnormal circulating cholesterol concentration	25839	COG4	ORPHA:263501
HP:0003107	Abnormal circulating cholesterol concentration	79989	IFT56	OMIM:619534
HP:0003107	Abnormal circulating cholesterol concentration	11284	PNKP	OMIM:616267
HP:0003107	Abnormal circulating cholesterol concentration	537	ATP6AP1	OMIM:300972
HP:0003107	Abnormal circulating cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0003107	Abnormal circulating cholesterol concentration	1733	DIO1	OMIM:619855
HP:0003107	Abnormal circulating cholesterol concentration	5257	PHKB	ORPHA:79240
HP:0003107	Abnormal circulating cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0003107	Abnormal circulating cholesterol concentration	284654	RSPO1	OMIM:610644
HP:0003107	Abnormal circulating cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0003107	Abnormal circulating cholesterol concentration	10555	AGPAT2	ORPHA:528
HP:0003107	Abnormal circulating cholesterol concentration	284119	CAVIN1	ORPHA:528
HP:0003107	Abnormal circulating cholesterol concentration	26580	BSCL2	ORPHA:528
HP:0003107	Abnormal circulating cholesterol concentration	2353	FOS	ORPHA:528
HP:0003107	Abnormal circulating cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0003107	Abnormal circulating cholesterol concentration	1071	CETP	ORPHA:79506
HP:0003107	Abnormal circulating cholesterol concentration	6907	TBL1X	OMIM:301033
HP:0003107	Abnormal circulating cholesterol concentration	5256	PHKA2	ORPHA:264580
HP:0003107	Abnormal circulating cholesterol concentration	5256	PHKA2	OMIM:306000
HP:0003107	Abnormal circulating cholesterol concentration	5261	PHKG2	ORPHA:264580
HP:0003107	Abnormal circulating cholesterol concentration	113220	KIF12	OMIM:619662
HP:0003107	Abnormal circulating cholesterol concentration	8694	DGAT1	OMIM:615863
HP:0003107	Abnormal circulating cholesterol concentration	344	APOC2	OMIM:207750
HP:0003107	Abnormal circulating cholesterol concentration	54840	APTX	OMIM:208920
HP:0003107	Abnormal circulating cholesterol concentration	4645	MYO5B	OMIM:619868
HP:0003107	Abnormal circulating cholesterol concentration	55186	SLC25A36	OMIM:620211
HP:0003107	Abnormal circulating cholesterol concentration	2690	GHR	ORPHA:633
HP:0003107	Abnormal circulating cholesterol concentration	2584	GALK1	ORPHA:79237
HP:0003107	Abnormal circulating cholesterol concentration	336	APOA2	OMIM:143890
HP:0003107	Abnormal circulating cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0003107	Abnormal circulating cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0003107	Abnormal circulating cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0003107	Abnormal circulating cholesterol concentration	2010	EMD	ORPHA:98863
HP:0003107	Abnormal circulating cholesterol concentration	20	ABCA2	OMIM:618808
HP:0003107	Abnormal circulating cholesterol concentration	4040	LRP6	OMIM:610947
HP:0003107	Abnormal circulating cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0003107	Abnormal circulating cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0003107	Abnormal circulating cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0003107	Abnormal circulating cholesterol concentration	80270	HSD3B7	OMIM:607765
HP:0003107	Abnormal circulating cholesterol concentration	89910	UBE3B	OMIM:244450
HP:0003107	Abnormal circulating cholesterol concentration	5193	PEX12	OMIM:266510
HP:0003107	Abnormal circulating cholesterol concentration	5406	PNLIP	OMIM:614338
HP:0003107	Abnormal circulating cholesterol concentration	55210	ATAD3A	OMIM:618810
HP:0003107	Abnormal circulating cholesterol concentration	201163	FLCN	OMIM:610883
HP:0003107	Abnormal circulating cholesterol concentration	5373	PMM2	OMIM:212065
HP:0003107	Abnormal circulating cholesterol concentration	5660	PSAP	OMIM:610539
HP:0003107	Abnormal circulating cholesterol concentration	79087	ALG12	ORPHA:79324
HP:0003107	Abnormal circulating cholesterol concentration	4000	LMNA	ORPHA:280365
HP:0003107	Abnormal circulating cholesterol concentration	4000	LMNA	OMIM:151660
HP:0003107	Abnormal circulating cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0003107	Abnormal circulating cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0003107	Abnormal circulating cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0003107	Abnormal circulating cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0003107	Abnormal circulating cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0003107	Abnormal circulating cholesterol concentration	335	APOA1	OMIM:618463
HP:0003107	Abnormal circulating cholesterol concentration	335	APOA1	OMIM:619836
HP:0003107	Abnormal circulating cholesterol concentration	335	APOA1	ORPHA:425
HP:0003107	Abnormal circulating cholesterol concentration	3988	LIPA	OMIM:278000
HP:0003107	Abnormal circulating cholesterol concentration	19	ABCA1	OMIM:604091
HP:0003107	Abnormal circulating cholesterol concentration	19	ABCA1	OMIM:205400
HP:0003107	Abnormal circulating cholesterol concentration	19	ABCA1	ORPHA:425
HP:0003107	Abnormal circulating cholesterol concentration	10165	SLC25A13	ORPHA:247585
HP:0003107	Abnormal circulating cholesterol concentration	10165	SLC25A13	OMIM:605814
HP:0003107	Abnormal circulating cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0003107	Abnormal circulating cholesterol concentration	338	APOB	OMIM:615558
HP:0003107	Abnormal circulating cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0003107	Abnormal circulating cholesterol concentration	4547	MTTP	ORPHA:14
HP:0003107	Abnormal circulating cholesterol concentration	3931	LCAT	OMIM:245900
HP:0003107	Abnormal circulating cholesterol concentration	3931	LCAT	OMIM:136120
HP:0003107	Abnormal circulating cholesterol concentration	3931	LCAT	ORPHA:79292
HP:0003107	Abnormal circulating cholesterol concentration	5468	PPARG	OMIM:604367
HP:0003107	Abnormal circulating cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0003107	Abnormal circulating cholesterol concentration	116519	APOA5	OMIM:144650
HP:0003107	Abnormal circulating cholesterol concentration	84984	CEP19	OMIM:615703
HP:0003107	Abnormal circulating cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0003107	Abnormal circulating cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0003107	Abnormal circulating cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0003107	Abnormal circulating cholesterol concentration	348	APOE	ORPHA:412
HP:0003107	Abnormal circulating cholesterol concentration	197131	UBR1	OMIM:243800
HP:0003107	Abnormal circulating cholesterol concentration	10682	EBP	ORPHA:401973
HP:0003107	Abnormal circulating cholesterol concentration	10682	EBP	OMIM:302960
HP:0003107	Abnormal circulating cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0003107	Abnormal circulating cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0003107	Abnormal circulating cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0003107	Abnormal circulating cholesterol concentration	26119	LDLRAP1	OMIM:603813
HP:0003107	Abnormal circulating cholesterol concentration	345	APOC3	OMIM:614028
HP:0003107	Abnormal circulating cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0003107	Abnormal circulating cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0003107	Abnormal circulating cholesterol concentration	80025	PANK2	OMIM:607236
HP:0003107	Abnormal circulating cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0003107	Abnormal circulating cholesterol concentration	1717	DHCR7	OMIM:270400
HP:0003107	Abnormal circulating cholesterol concentration	1717	DHCR7	ORPHA:818
HP:0003107	Abnormal circulating cholesterol concentration	255738	PCSK9	OMIM:603776
HP:0003465	Elevated 8(9)-cholestenol	50814	NSDHL	OMIM:308050
HP:0003465	Elevated 8(9)-cholestenol	10682	EBP	ORPHA:401973
HP:0003465	Elevated 8(9)-cholestenol	10682	EBP	OMIM:302960
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	79798	ARMC5	ORPHA:189427
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	2778	GNAS	ORPHA:189427
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	5566	PRKACA	ORPHA:189439
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	8622	PDE8B	ORPHA:189439
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	5573	PRKAR1A	ORPHA:189439
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	5573	PRKAR1A	OMIM:610489
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	5573	PRKAR1A	ORPHA:1501
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	50940	PDE11A	ORPHA:189439
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	50940	PDE11A	OMIM:610475
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	84196	USP48	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	7157	TP53	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	7157	TP53	ORPHA:1501
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	9101	USP8	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	64072	CDH23	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	2908	NR3C1	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	673	BRAF	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	546	ATRX	ORPHA:96253
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	84133	ZNRF3	ORPHA:1501
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1499	CTNNB1	ORPHA:1501
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1029	CDKN2A	ORPHA:1501
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	7015	TERT	ORPHA:1501
HP:0003467	Atlantoaxial instability	4921	DDR2	OMIM:271665
HP:0003467	Atlantoaxial instability	54808	DYM	OMIM:607326
HP:0003467	Atlantoaxial instability	54808	DYM	ORPHA:239
HP:0003467	Atlantoaxial instability	55033	FKBP14	OMIM:614557
HP:0003467	Atlantoaxial instability	1280	COL2A1	OMIM:183900
HP:0003467	Atlantoaxial instability	2623	GATA1	OMIM:190685
HP:0003467	Atlantoaxial instability	415	ARSL	ORPHA:79345
HP:0003468	Abnormal vertebral morphology	176	ACAN	ORPHA:93283
HP:0003468	Abnormal vertebral morphology	176	ACAN	OMIM:608361
HP:0003468	Abnormal vertebral morphology	176	ACAN	OMIM:612813
HP:0003468	Abnormal vertebral morphology	6399	TRAPPC2	ORPHA:93284
HP:0003468	Abnormal vertebral morphology	6399	TRAPPC2	OMIM:313400
HP:0003468	Abnormal vertebral morphology	9131	AIFM1	OMIM:300232
HP:0003468	Abnormal vertebral morphology	4750	NEK1	OMIM:263520
HP:0003468	Abnormal vertebral morphology	755	CFAP410	OMIM:602271
HP:0003468	Abnormal vertebral morphology	538	ATP7A	OMIM:304150
HP:0003468	Abnormal vertebral morphology	538	ATP7A	ORPHA:198
HP:0003468	Abnormal vertebral morphology	5352	PLOD2	OMIM:609220
HP:0003468	Abnormal vertebral morphology	5352	PLOD2	ORPHA:2771
HP:0003468	Abnormal vertebral morphology	249	ALPL	OMIM:241500
HP:0003468	Abnormal vertebral morphology	79639	TMEM53	OMIM:619727
HP:0003468	Abnormal vertebral morphology	3764	KCNJ8	ORPHA:1517
HP:0003468	Abnormal vertebral morphology	10060	ABCC9	ORPHA:1517
HP:0003468	Abnormal vertebral morphology	10060	ABCC9	OMIM:239850
HP:0003468	Abnormal vertebral morphology	64175	P3H1	OMIM:610915
HP:0003468	Abnormal vertebral morphology	1301	COL11A1	OMIM:154780
HP:0003468	Abnormal vertebral morphology	1301	COL11A1	OMIM:228520
HP:0003468	Abnormal vertebral morphology	1301	COL11A1	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	54	ACP5	OMIM:607944
HP:0003468	Abnormal vertebral morphology	54	ACP5	ORPHA:1855
HP:0003468	Abnormal vertebral morphology	3418	IDH2	ORPHA:296
HP:0003468	Abnormal vertebral morphology	3417	IDH1	ORPHA:296
HP:0003468	Abnormal vertebral morphology	3417	IDH1	ORPHA:99646
HP:0003468	Abnormal vertebral morphology	60561	RINT1	OMIM:618641
HP:0003468	Abnormal vertebral morphology	90993	CREB3L1	OMIM:616229
HP:0003468	Abnormal vertebral morphology	649	BMP1	OMIM:614856
HP:0003468	Abnormal vertebral morphology	64132	XYLT2	ORPHA:85194
HP:0003468	Abnormal vertebral morphology	64132	XYLT2	OMIM:605822
HP:0003468	Abnormal vertebral morphology	5593	PRKG2	OMIM:619638
HP:0003468	Abnormal vertebral morphology	5593	PRKG2	OMIM:619636
HP:0003468	Abnormal vertebral morphology	10013	HDAC6	ORPHA:163966
HP:0003468	Abnormal vertebral morphology	10013	HDAC6	OMIM:300863
HP:0003468	Abnormal vertebral morphology	4952	OCRL	OMIM:309000
HP:0003468	Abnormal vertebral morphology	4952	OCRL	ORPHA:534
HP:0003468	Abnormal vertebral morphology	1311	COMP	OMIM:177170
HP:0003468	Abnormal vertebral morphology	1311	COMP	ORPHA:750
HP:0003468	Abnormal vertebral morphology	9321	TRIP11	OMIM:184260
HP:0003468	Abnormal vertebral morphology	9321	TRIP11	ORPHA:166272
HP:0003468	Abnormal vertebral morphology	50485	SMARCAL1	ORPHA:1830
HP:0003468	Abnormal vertebral morphology	50485	SMARCAL1	OMIM:242900
HP:0003468	Abnormal vertebral morphology	3911	LAMA5	OMIM:620076
HP:0003468	Abnormal vertebral morphology	124583	CANT1	OMIM:251450
HP:0003468	Abnormal vertebral morphology	124583	CANT1	OMIM:617719
HP:0003468	Abnormal vertebral morphology	3930	LBR	OMIM:215140
HP:0003468	Abnormal vertebral morphology	3930	LBR	OMIM:618019
HP:0003468	Abnormal vertebral morphology	3930	LBR	ORPHA:1426
HP:0003468	Abnormal vertebral morphology	5373	PMM2	ORPHA:79318
HP:0003468	Abnormal vertebral morphology	2260	FGFR1	OMIM:166250
HP:0003468	Abnormal vertebral morphology	3339	HSPG2	OMIM:255800
HP:0003468	Abnormal vertebral morphology	3339	HSPG2	ORPHA:800
HP:0003468	Abnormal vertebral morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0003468	Abnormal vertebral morphology	100151683	RNU4ATAC	OMIM:210710
HP:0003468	Abnormal vertebral morphology	387733	IFITM5	OMIM:610967
HP:0003468	Abnormal vertebral morphology	91252	SLC39A13	ORPHA:157965
HP:0003468	Abnormal vertebral morphology	91252	SLC39A13	OMIM:612350
HP:0003468	Abnormal vertebral morphology	1297	COL9A1	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	1298	COL9A2	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	1299	COL9A3	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	84695	LOXL3	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	54808	DYM	ORPHA:239
HP:0003468	Abnormal vertebral morphology	54808	DYM	OMIM:607326
HP:0003468	Abnormal vertebral morphology	54808	DYM	OMIM:223800
HP:0003468	Abnormal vertebral morphology	2879	GPX4	OMIM:250220
HP:0003468	Abnormal vertebral morphology	2879	GPX4	ORPHA:93317
HP:0003468	Abnormal vertebral morphology	4921	DDR2	OMIM:271665
HP:0003468	Abnormal vertebral morphology	5351	PLOD1	OMIM:225400
HP:0003468	Abnormal vertebral morphology	89970	RSPRY1	OMIM:616723
HP:0003468	Abnormal vertebral morphology	89970	RSPRY1	ORPHA:457395
HP:0003468	Abnormal vertebral morphology	4054	LTBP3	OMIM:601216
HP:0003468	Abnormal vertebral morphology	1436	CSF1R	OMIM:618476
HP:0003468	Abnormal vertebral morphology	9871	SEC24D	OMIM:616294
HP:0003468	Abnormal vertebral morphology	153642	ARSK	OMIM:619698
HP:0003468	Abnormal vertebral morphology	64131	XYLT1	OMIM:615777
HP:0003468	Abnormal vertebral morphology	1277	COL1A1	OMIM:166210
HP:0003468	Abnormal vertebral morphology	1278	COL1A2	OMIM:166210
HP:0003468	Abnormal vertebral morphology	92344	GORAB	OMIM:231070
HP:0003468	Abnormal vertebral morphology	92344	GORAB	ORPHA:2078
HP:0003468	Abnormal vertebral morphology	6678	SPARC	OMIM:616507
HP:0003468	Abnormal vertebral morphology	9451	EIF2AK3	OMIM:226980
HP:0003468	Abnormal vertebral morphology	8985	PLOD3	OMIM:612394
HP:0003468	Abnormal vertebral morphology	6023	RMRP	OMIM:607095
HP:0003468	Abnormal vertebral morphology	3835	KIF22	ORPHA:93360
HP:0003468	Abnormal vertebral morphology	6424	SFRP4	OMIM:265900
HP:0003468	Abnormal vertebral morphology	2588	GALNS	OMIM:253000
HP:0003468	Abnormal vertebral morphology	55325	UFSP2	OMIM:617974
HP:0003468	Abnormal vertebral morphology	29957	SLC25A24	OMIM:612289
HP:0003468	Abnormal vertebral morphology	60681	FKBP10	ORPHA:2771
HP:0003468	Abnormal vertebral morphology	60681	FKBP10	OMIM:259450
HP:0003468	Abnormal vertebral morphology	9060	PAPSS2	OMIM:612847
HP:0003468	Abnormal vertebral morphology	4148	MATN3	OMIM:608728
HP:0003468	Abnormal vertebral morphology	25839	COG4	OMIM:618150
HP:0003468	Abnormal vertebral morphology	25839	COG4	ORPHA:85172
HP:0003468	Abnormal vertebral morphology	112752	IFT43	OMIM:617866
HP:0003468	Abnormal vertebral morphology	202018	TAPT1	OMIM:616897
HP:0003468	Abnormal vertebral morphology	28957	MRPS28	OMIM:618958
HP:0003468	Abnormal vertebral morphology	23169	SLC35D1	OMIM:269250
HP:0003468	Abnormal vertebral morphology	1836	SLC26A2	OMIM:256050
HP:0003468	Abnormal vertebral morphology	11014	KDELR2	OMIM:619131
HP:0003468	Abnormal vertebral morphology	100	ADA	OMIM:102700
HP:0003468	Abnormal vertebral morphology	2990	GUSB	OMIM:253220
HP:0003468	Abnormal vertebral morphology	6137	RPL13	OMIM:618728
HP:0003468	Abnormal vertebral morphology	10312	TCIRG1	ORPHA:1782
HP:0003468	Abnormal vertebral morphology	55315	SLC29A3	ORPHA:1782
HP:0003468	Abnormal vertebral morphology	8792	TNFRSF11A	ORPHA:1782
HP:0003468	Abnormal vertebral morphology	54187	NANS	OMIM:610442
HP:0003468	Abnormal vertebral morphology	5831	PYCR1	ORPHA:2078
HP:0003468	Abnormal vertebral morphology	5479	PPIB	OMIM:259440
HP:0003468	Abnormal vertebral morphology	166929	SGMS2	OMIM:126550
HP:0003468	Abnormal vertebral morphology	9469	CHST3	OMIM:245600
HP:0003468	Abnormal vertebral morphology	26229	B3GAT3	OMIM:245600
HP:0003468	Abnormal vertebral morphology	860	RUNX2	OMIM:156510
HP:0003468	Abnormal vertebral morphology	375056	MIA3	OMIM:619269
HP:0003468	Abnormal vertebral morphology	83452	RAB33B	OMIM:615222
HP:0003468	Abnormal vertebral morphology	7471	WNT1	OMIM:615220
HP:0003468	Abnormal vertebral morphology	25871	NEPRO	OMIM:618853
HP:0003468	Abnormal vertebral morphology	871	SERPINH1	OMIM:613848
HP:0003468	Abnormal vertebral morphology	2737	GLI3	ORPHA:672
HP:0003468	Abnormal vertebral morphology	2737	GLI3	OMIM:146510
HP:0003468	Abnormal vertebral morphology	2737	GLI3	ORPHA:93322
HP:0003468	Abnormal vertebral morphology	9791	PTDSS1	OMIM:151050
HP:0003468	Abnormal vertebral morphology	5447	POR	OMIM:201750
HP:0003468	Abnormal vertebral morphology	6909	TBX2	OMIM:618223
HP:0003468	Abnormal vertebral morphology	8558	CDK10	OMIM:617694
HP:0003468	Abnormal vertebral morphology	145173	B3GLCT	OMIM:261540
HP:0003468	Abnormal vertebral morphology	1857	DVL3	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	7474	WNT5A	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	1855	DVL1	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	2535	FZD2	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	134701	RIPPLY2	OMIM:616566
HP:0003468	Abnormal vertebral morphology	5885	RAD21	OMIM:614701
HP:0003468	Abnormal vertebral morphology	6650	CAPN15	OMIM:619318
HP:0003468	Abnormal vertebral morphology	10992	SF3B2	OMIM:164210
HP:0003468	Abnormal vertebral morphology	54499	TMCO1	OMIM:213980
HP:0003468	Abnormal vertebral morphology	54499	TMCO1	ORPHA:1394
HP:0003468	Abnormal vertebral morphology	546	ATRX	OMIM:301040
HP:0003468	Abnormal vertebral morphology	526	ATP6V1B2	ORPHA:79500
HP:0003468	Abnormal vertebral morphology	57465	TBC1D24	ORPHA:79500
HP:0003468	Abnormal vertebral morphology	6651	SON	OMIM:617140
HP:0003468	Abnormal vertebral morphology	6651	SON	ORPHA:500150
HP:0003468	Abnormal vertebral morphology	4920	ROR2	OMIM:113000
HP:0003468	Abnormal vertebral morphology	4920	ROR2	OMIM:268310
HP:0003468	Abnormal vertebral morphology	8942	KYNU	OMIM:617661
HP:0003468	Abnormal vertebral morphology	8085	KMT2D	ORPHA:2322
HP:0003468	Abnormal vertebral morphology	7403	KDM6A	ORPHA:2322
HP:0003468	Abnormal vertebral morphology	182	JAG1	OMIM:118450
HP:0003468	Abnormal vertebral morphology	388015	RTL1	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	8788	DLK1	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	55384	MEG3	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	10683	DLL3	OMIM:277300
HP:0003468	Abnormal vertebral morphology	145873	MESP2	OMIM:277300
HP:0003468	Abnormal vertebral morphology	145873	MESP2	OMIM:608681
HP:0003468	Abnormal vertebral morphology	55636	CHD7	ORPHA:138
HP:0003468	Abnormal vertebral morphology	55636	CHD7	OMIM:214800
HP:0003468	Abnormal vertebral morphology	9723	SEMA3E	ORPHA:138
HP:0003468	Abnormal vertebral morphology	2187	FANCB	ORPHA:3412
HP:0003468	Abnormal vertebral morphology	5727	PTCH1	ORPHA:377
HP:0003468	Abnormal vertebral morphology	5727	PTCH1	OMIM:109400
HP:0003468	Abnormal vertebral morphology	8643	PTCH2	ORPHA:377
HP:0003468	Abnormal vertebral morphology	51684	SUFU	ORPHA:377
HP:0003468	Abnormal vertebral morphology	6657	SOX2	ORPHA:77298
HP:0003468	Abnormal vertebral morphology	6657	SOX2	OMIM:206900
HP:0003468	Abnormal vertebral morphology	9897	WASHC5	OMIM:220210
HP:0003468	Abnormal vertebral morphology	9897	WASHC5	ORPHA:7
HP:0003468	Abnormal vertebral morphology	55777	MBD5	OMIM:156200
HP:0003468	Abnormal vertebral morphology	4621	MYH3	OMIM:178110
HP:0003468	Abnormal vertebral morphology	4998	ORC1	OMIM:224690
HP:0003468	Abnormal vertebral morphology	51360	MBTPS2	ORPHA:85284
HP:0003468	Abnormal vertebral morphology	7476	WNT7A	OMIM:276820
HP:0003468	Abnormal vertebral morphology	28952	CCDC22	ORPHA:7
HP:0003468	Abnormal vertebral morphology	10682	EBP	OMIM:302960
HP:0003468	Abnormal vertebral morphology	26175	LYSET	OMIM:619345
HP:0003468	Abnormal vertebral morphology	22827	PUF60	OMIM:615583
HP:0003468	Abnormal vertebral morphology	84667	HES7	OMIM:613686
HP:0003468	Abnormal vertebral morphology	8517	IKBKG	OMIM:308300
HP:0003468	Abnormal vertebral morphology	4990	SIX6	OMIM:206900
HP:0003468	Abnormal vertebral morphology	6911	TBX6	OMIM:122600
HP:0003468	Abnormal vertebral morphology	4038	LRP4	OMIM:212780
HP:0003468	Abnormal vertebral morphology	5077	PAX3	OMIM:193500
HP:0003468	Abnormal vertebral morphology	1723	DHODH	OMIM:263750
HP:0003468	Abnormal vertebral morphology	64412	GZF1	OMIM:617662
HP:0003468	Abnormal vertebral morphology	113189	CHST14	ORPHA:2953
HP:0003468	Abnormal vertebral morphology	29940	DSE	ORPHA:2953
HP:0003468	Abnormal vertebral morphology	6662	SOX9	OMIM:114290
HP:0003468	Abnormal vertebral morphology	6660	SOX5	ORPHA:313892
HP:0003468	Abnormal vertebral morphology	79147	FKRP	OMIM:606612
HP:0003468	Abnormal vertebral morphology	79147	FKRP	OMIM:607155
HP:0003468	Abnormal vertebral morphology	54361	WNT4	ORPHA:3109
HP:0003468	Abnormal vertebral morphology	29123	ANKRD11	ORPHA:2332
HP:0003468	Abnormal vertebral morphology	29123	ANKRD11	OMIM:148050
HP:0003468	Abnormal vertebral morphology	284058	KANSL1	OMIM:610443
HP:0003468	Abnormal vertebral morphology	55191	NADSYN1	OMIM:618845
HP:0003468	Abnormal vertebral morphology	3081	HGD	OMIM:203500
HP:0003468	Abnormal vertebral morphology	4089	SMAD4	OMIM:139210
HP:0003468	Abnormal vertebral morphology	4854	NOTCH3	OMIM:130720
HP:0003468	Abnormal vertebral morphology	57167	SALL4	ORPHA:959
HP:0003468	Abnormal vertebral morphology	1146	CHRNG	OMIM:253290
HP:0003468	Abnormal vertebral morphology	1144	CHRND	OMIM:253290
HP:0003468	Abnormal vertebral morphology	1134	CHRNA1	OMIM:253290
HP:0003468	Abnormal vertebral morphology	8200	GDF5	OMIM:610017
HP:0003468	Abnormal vertebral morphology	53834	FGFRL1	OMIM:194190
HP:0003468	Abnormal vertebral morphology	5888	RAD51	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	10126	DNAL4	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	9423	NTN1	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	1630	DCC	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	368	ABCC6	ORPHA:51608
HP:0003468	Abnormal vertebral morphology	22943	DKK1	ORPHA:268882
HP:0003468	Abnormal vertebral morphology	6885	MAP3K7	OMIM:617137
HP:0003468	Abnormal vertebral morphology	6885	MAP3K7	ORPHA:1826
HP:0003468	Abnormal vertebral morphology	6885	MAP3K7	OMIM:157800
HP:0003468	Abnormal vertebral morphology	1108	CHD4	OMIM:617159
HP:0003468	Abnormal vertebral morphology	9939	RBM8A	ORPHA:3320
HP:0003468	Abnormal vertebral morphology	9939	RBM8A	OMIM:274000
HP:0003468	Abnormal vertebral morphology	9241	NOG	OMIM:184460
HP:0003468	Abnormal vertebral morphology	55215	FANCI	OMIM:609053
HP:0003468	Abnormal vertebral morphology	3557	IL1RN	OMIM:612852
HP:0003468	Abnormal vertebral morphology	51729	WBP11	OMIM:619227
HP:0003468	Abnormal vertebral morphology	4222	MEOX1	OMIM:214300
HP:0003468	Abnormal vertebral morphology	84196	USP48	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	7157	TP53	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	64072	CDH23	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	2908	NR3C1	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	673	BRAF	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	595	CCND1	ORPHA:29073
HP:0003468	Abnormal vertebral morphology	7390	UROS	OMIM:263700
HP:0003468	Abnormal vertebral morphology	10491	CRTAP	OMIM:610682
HP:0003468	Abnormal vertebral morphology	6611	SMS	OMIM:309583
HP:0003468	Abnormal vertebral morphology	23184	MESD	OMIM:618644
HP:0003468	Abnormal vertebral morphology	2629	GBA1	OMIM:230800
HP:0003468	Abnormal vertebral morphology	2629	GBA1	ORPHA:77259
HP:0003468	Abnormal vertebral morphology	89780	WNT3A	ORPHA:85193
HP:0003468	Abnormal vertebral morphology	4773	NFATC2	OMIM:620232
HP:0003468	Abnormal vertebral morphology	950	SCARB2	ORPHA:77259
HP:0003468	Abnormal vertebral morphology	134218	DNAJC21	ORPHA:811
HP:0003468	Abnormal vertebral morphology	79631	EFL1	ORPHA:811
HP:0003468	Abnormal vertebral morphology	51119	SBDS	ORPHA:811
HP:0003468	Abnormal vertebral morphology	6729	SRP54	ORPHA:811
HP:0003468	Abnormal vertebral morphology	3549	IHH	ORPHA:63446
HP:0003468	Abnormal vertebral morphology	3549	IHH	OMIM:607778
HP:0003468	Abnormal vertebral morphology	4052	LTBP1	OMIM:619451
HP:0003468	Abnormal vertebral morphology	3977	LIFR	OMIM:601559
HP:0003468	Abnormal vertebral morphology	89910	UBE3B	OMIM:244450
HP:0003468	Abnormal vertebral morphology	84068	SLC10A7	OMIM:618363
HP:0003468	Abnormal vertebral morphology	8443	GNPAT	OMIM:222765
HP:0003468	Abnormal vertebral morphology	6448	SGSH	OMIM:252900
HP:0003468	Abnormal vertebral morphology	4669	NAGLU	OMIM:252920
HP:0003468	Abnormal vertebral morphology	7291	TWIST1	ORPHA:794
HP:0003468	Abnormal vertebral morphology	2263	FGFR2	ORPHA:794
HP:0003468	Abnormal vertebral morphology	7421	VDR	ORPHA:93160
HP:0003468	Abnormal vertebral morphology	5034	P4HB	ORPHA:2050
HP:0003468	Abnormal vertebral morphology	6916	TBXAS1	ORPHA:1802
HP:0003468	Abnormal vertebral morphology	4758	NEU1	ORPHA:93399
HP:0003468	Abnormal vertebral morphology	4758	NEU1	ORPHA:812
HP:0003468	Abnormal vertebral morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0003468	Abnormal vertebral morphology	2314	FLII	ORPHA:819
HP:0003468	Abnormal vertebral morphology	23096	IQSEC2	ORPHA:819
HP:0003468	Abnormal vertebral morphology	10743	RAI1	ORPHA:819
HP:0003468	Abnormal vertebral morphology	10522	DEAF1	ORPHA:819
HP:0003468	Abnormal vertebral morphology	1717	DHCR7	ORPHA:818
HP:0003468	Abnormal vertebral morphology	324	APC	ORPHA:3258
HP:0003468	Abnormal vertebral morphology	3955	LFNG	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	64093	SMOC1	ORPHA:1106
HP:0003468	Abnormal vertebral morphology	2697	GJA1	ORPHA:2710
HP:0003468	Abnormal vertebral morphology	4313	MMP2	ORPHA:371428
HP:0003468	Abnormal vertebral morphology	4323	MMP14	ORPHA:371428
HP:0003468	Abnormal vertebral morphology	2313	FLI1	ORPHA:2308
HP:0003468	Abnormal vertebral morphology	9361	LONP1	ORPHA:1458
HP:0003468	Abnormal vertebral morphology	79600	TCTN1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	79848	CSPP1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	65250	CPLANE1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	91147	TMEM67	ORPHA:475
HP:0003468	Abnormal vertebral morphology	200894	ARL13B	ORPHA:475
HP:0003468	Abnormal vertebral morphology	9731	CEP104	ORPHA:475
HP:0003468	Abnormal vertebral morphology	219844	HYLS1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	23247	KATNIP	ORPHA:475
HP:0003468	Abnormal vertebral morphology	219854	TMEM218	ORPHA:475
HP:0003468	Abnormal vertebral morphology	9786	KIAA0586	ORPHA:475
HP:0003468	Abnormal vertebral morphology	79867	TCTN2	ORPHA:475
HP:0003468	Abnormal vertebral morphology	80776	B9D2	ORPHA:475
HP:0003468	Abnormal vertebral morphology	10464	PIBF1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	80210	ARMC9	ORPHA:475
HP:0003468	Abnormal vertebral morphology	23116	TOGARAM1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	25776	CBY1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	27077	B9D1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	403	ARL3	ORPHA:475
HP:0003468	Abnormal vertebral morphology	65062	TMEM237	ORPHA:475
HP:0003468	Abnormal vertebral morphology	6197	RPS6KA3	ORPHA:192
HP:0003468	Abnormal vertebral morphology	6804	STX1A	ORPHA:904
HP:0003468	Abnormal vertebral morphology	7461	CLIP2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	84277	DNAJC30	ORPHA:904
HP:0003468	Abnormal vertebral morphology	8468	FKBP6	ORPHA:904
HP:0003468	Abnormal vertebral morphology	5982	RFC2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	2969	GTF2I	ORPHA:904
HP:0003468	Abnormal vertebral morphology	3984	LIMK1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	9569	GTF2IRD1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	155382	VPS37D	ORPHA:904
HP:0003468	Abnormal vertebral morphology	155368	METTL27	ORPHA:904
HP:0003468	Abnormal vertebral morphology	114049	BUD23	ORPHA:904
HP:0003468	Abnormal vertebral morphology	7458	EIF4H	ORPHA:904
HP:0003468	Abnormal vertebral morphology	84163	GTF2IRD2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	9275	BCL7B	ORPHA:904
HP:0003468	Abnormal vertebral morphology	26608	TBL2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	653361	NCF1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	135886	TMEM270	ORPHA:904
HP:0003468	Abnormal vertebral morphology	51085	MLXIPL	ORPHA:904
HP:0003468	Abnormal vertebral morphology	9031	BAZ1B	ORPHA:904
HP:0003468	Abnormal vertebral morphology	2006	ELN	ORPHA:904
HP:0003468	Abnormal vertebral morphology	5728	PTEN	ORPHA:744
HP:0003468	Abnormal vertebral morphology	207	AKT1	ORPHA:744
HP:0003468	Abnormal vertebral morphology	10262	SF3B4	ORPHA:1788
HP:0003468	Abnormal vertebral morphology	4352	MPL	ORPHA:3319
HP:0003468	Abnormal vertebral morphology	7066	THPO	ORPHA:3319
HP:0003468	Abnormal vertebral morphology	84168	ANTXR1	ORPHA:2067
HP:0003468	Abnormal vertebral morphology	2200	FBN1	ORPHA:2462
HP:0003468	Abnormal vertebral morphology	6497	SKI	ORPHA:2462
HP:0003468	Abnormal vertebral morphology	63895	PIEZO2	ORPHA:2461
HP:0003468	Abnormal vertebral morphology	10526	IPO8	OMIM:619472
HP:0003468	Abnormal vertebral morphology	579	NKX3-2	OMIM:613330
HP:0003468	Abnormal vertebral morphology	79087	ALG12	OMIM:607143
HP:0003468	Abnormal vertebral morphology	55593	OTUD5	OMIM:301056
HP:0003468	Abnormal vertebral morphology	23498	HAAO	OMIM:617660
HP:0003468	Abnormal vertebral morphology	55790	CSGALNACT1	OMIM:618870
HP:0003468	Abnormal vertebral morphology	9382	COG1	OMIM:611209
HP:0003468	Abnormal vertebral morphology	9382	COG1	ORPHA:263508
HP:0003468	Abnormal vertebral morphology	6309	SC5D	OMIM:607330
HP:0003468	Abnormal vertebral morphology	55699	IARS2	OMIM:616007
HP:0003468	Abnormal vertebral morphology	8854	ALDH1A2	OMIM:620025
HP:0003468	Abnormal vertebral morphology	5191	PEX7	OMIM:215100
HP:0003468	Abnormal vertebral morphology	3313	HSPA9	OMIM:616854
HP:0003468	Abnormal vertebral morphology	341640	FREM2	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	80144	FRAS1	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	23426	GRIP1	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	3265	HRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	3845	KRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	4893	NRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	1131	CHRM3	ORPHA:2970
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	ORPHA:453504
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	OMIM:616580
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	ORPHA:352665
HP:0003468	Abnormal vertebral morphology	8318	CDC45	OMIM:617063
HP:0003468	Abnormal vertebral morphology	7140	TNNT3	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	7169	TPM2	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	259232	NALCN	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	7136	TNNI2	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	64359	NXN	ORPHA:1507
HP:0003468	Abnormal vertebral morphology	3239	HOXD13	ORPHA:887
HP:0003468	Abnormal vertebral morphology	4281	MID1	ORPHA:2745
HP:0003468	Abnormal vertebral morphology	5476	CTSA	ORPHA:351
HP:0003468	Abnormal vertebral morphology	2335	FN1	ORPHA:93315
HP:0003468	Abnormal vertebral morphology	23233	EXOC6B	ORPHA:93359
HP:0003468	Abnormal vertebral morphology	126792	B3GALT6	ORPHA:93359
HP:0003468	Abnormal vertebral morphology	91754	NEK9	ORPHA:64754
HP:0003468	Abnormal vertebral morphology	23028	KDM1A	OMIM:616728
HP:0003468	Abnormal vertebral morphology	65992	DDRGK1	ORPHA:93352
HP:0003468	Abnormal vertebral morphology	3425	IDUA	ORPHA:93473
HP:0003468	Abnormal vertebral morphology	3425	IDUA	ORPHA:93476
HP:0003468	Abnormal vertebral morphology	5745	PTH1R	OMIM:215045
HP:0003468	Abnormal vertebral morphology	28514	DLL1	OMIM:618709
HP:0003468	Abnormal vertebral morphology	28514	DLL1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	64324	NSD1	ORPHA:821
HP:0003468	Abnormal vertebral morphology	29072	SETD2	ORPHA:821
HP:0003468	Abnormal vertebral morphology	10297	APC2	ORPHA:821
HP:0003468	Abnormal vertebral morphology	27125	AFF4	ORPHA:444077
HP:0003468	Abnormal vertebral morphology	78989	COLEC11	OMIM:265050
HP:0003468	Abnormal vertebral morphology	7547	ZIC3	OMIM:314390
HP:0003468	Abnormal vertebral morphology	26275	HIBCH	ORPHA:88639
HP:0003468	Abnormal vertebral morphology	26275	HIBCH	OMIM:250620
HP:0003468	Abnormal vertebral morphology	2253	FGF8	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6496	SIX3	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	7050	TGIF1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	4838	NODAL	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6469	SHH	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	7546	ZIC2	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6491	STIL	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	2619	GAS1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	84976	DISP1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	2736	GLI2	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	8928	FOXH1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	50937	CDON	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	54806	AHI1	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	56623	INPP5E	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	153241	CEP120	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	54903	MKS1	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	95681	CEP41	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	6299	SALL1	ORPHA:857
HP:0003468	Abnormal vertebral morphology	51339	DACT1	ORPHA:857
HP:0003468	Abnormal vertebral morphology	84919	PPP1R15B	OMIM:616817
HP:0003468	Abnormal vertebral morphology	90	ACVR1	ORPHA:337
HP:0003468	Abnormal vertebral morphology	3423	IDS	ORPHA:217093
HP:0003468	Abnormal vertebral morphology	3423	IDS	ORPHA:217085
HP:0003468	Abnormal vertebral morphology	1300	COL10A1	ORPHA:174
HP:0003468	Abnormal vertebral morphology	157570	ESCO2	ORPHA:2319
HP:0003468	Abnormal vertebral morphology	1302	COL11A2	ORPHA:1427
HP:0003468	Abnormal vertebral morphology	6910	TBX5	OMIM:142900
HP:0003468	Abnormal vertebral morphology	9401	RECQL4	OMIM:218600
HP:0003468	Abnormal vertebral morphology	2294	FOXF1	ORPHA:210122
HP:0003468	Abnormal vertebral morphology	10815	CPLX1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	54872	PIGG	ORPHA:280
HP:0003468	Abnormal vertebral morphology	7469	NELFA	ORPHA:280
HP:0003468	Abnormal vertebral morphology	1487	CTBP1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	3954	LETM1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	7468	NSD2	ORPHA:280
HP:0003468	Abnormal vertebral morphology	25970	SH2B1	ORPHA:261197
HP:0003468	Abnormal vertebral morphology	175	AGA	ORPHA:93
HP:0003468	Abnormal vertebral morphology	374654	KIF7	ORPHA:166024
HP:0003468	Abnormal vertebral morphology	6862	TBXT	OMIM:615709
HP:0003468	Abnormal vertebral morphology	2517	FUCA1	OMIM:230000
HP:0003468	Abnormal vertebral morphology	57647	DHX37	OMIM:618731
HP:0003468	Abnormal vertebral morphology	59341	TRPV4	ORPHA:93314
HP:0003468	Abnormal vertebral morphology	2720	GLB1	ORPHA:79255
HP:0003468	Abnormal vertebral morphology	79158	GNPTAB	OMIM:252500
HP:0003468	Abnormal vertebral morphology	4763	NF1	ORPHA:97685
HP:0003468	Abnormal vertebral morphology	2137	EXTL3	ORPHA:508533
HP:0003468	Abnormal vertebral morphology	51025	PAM16	OMIM:613320
HP:0003468	Abnormal vertebral morphology	2261	FGFR3	OMIM:187600
HP:0003468	Abnormal vertebral morphology	2261	FGFR3	OMIM:100800
HP:0003468	Abnormal vertebral morphology	3636	INPPL1	OMIM:258480
HP:0003468	Abnormal vertebral morphology	5130	PCYT1A	OMIM:608940
HP:0003468	Abnormal vertebral morphology	4041	LRP5	OMIM:259770
HP:0003468	Abnormal vertebral morphology	1280	COL2A1	OMIM:151210
HP:0003468	Abnormal vertebral morphology	4322	MMP13	OMIM:602111
HP:0003468	Abnormal vertebral morphology	4322	MMP13	ORPHA:93356
HP:0003468	Abnormal vertebral morphology	138050	HGSNAT	OMIM:252930
HP:0003468	Abnormal vertebral morphology	5176	SERPINF1	OMIM:613982
HP:0003468	Abnormal vertebral morphology	9820	CUL7	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	9820	CUL7	OMIM:273750
HP:0003468	Abnormal vertebral morphology	23363	OBSL1	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	83987	CCDC8	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	83987	CCDC8	OMIM:614205
HP:0003468	Abnormal vertebral morphology	4125	MAN2B1	OMIM:248500
HP:0003468	Abnormal vertebral morphology	83737	ITCH	OMIM:613385
HP:0003468	Abnormal vertebral morphology	2733	GLE1	OMIM:253310
HP:0003468	Abnormal vertebral morphology	633	BGN	OMIM:300106
HP:0003468	Abnormal vertebral morphology	50964	SOST	OMIM:269500
HP:0003468	Abnormal vertebral morphology	1758	DMP1	ORPHA:289176
HP:0003468	Abnormal vertebral morphology	5167	ENPP1	ORPHA:289176
HP:0003468	Abnormal vertebral morphology	1186	CLCN7	OMIM:611490
HP:0003468	Abnormal vertebral morphology	8838	CCN6	OMIM:208230
HP:0003468	Abnormal vertebral morphology	79705	LRRK1	OMIM:615198
HP:0003468	Abnormal vertebral morphology	64802	NMNAT1	OMIM:619260
HP:0003468	Abnormal vertebral morphology	55603	TENT5A	OMIM:617952
HP:0003468	Abnormal vertebral morphology	4853	NOTCH2	OMIM:102500
HP:0003468	Abnormal vertebral morphology	4853	NOTCH2	ORPHA:955
HP:0003468	Abnormal vertebral morphology	9049	AIP	OMIM:219090
HP:0003468	Abnormal vertebral morphology	9101	USP8	OMIM:219090
HP:0003468	Abnormal vertebral morphology	875	CBS	OMIM:236200
HP:0003468	Abnormal vertebral morphology	55112	DYNC2I1	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	57560	IFT80	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	57539	WDR35	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	79659	DYNC2H1	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	89891	DYNC2I2	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	55252	ASXL2	OMIM:617190
HP:0003468	Abnormal vertebral morphology	392255	GDF6	OMIM:118100
HP:0003468	Abnormal vertebral morphology	392255	GDF6	ORPHA:2345
HP:0003468	Abnormal vertebral morphology	55870	ASH1L	OMIM:617796
HP:0003468	Abnormal vertebral morphology	7862	BRPF1	OMIM:617333
HP:0003468	Abnormal vertebral morphology	165	AEBP1	OMIM:618000
HP:0003468	Abnormal vertebral morphology	9573	GDF3	ORPHA:2345
HP:0003468	Abnormal vertebral morphology	84700	MYO18B	OMIM:616549
HP:0003468	Abnormal vertebral morphology	1009	CDH11	OMIM:211380
HP:0003468	Abnormal vertebral morphology	9896	FIG4	OMIM:216340
HP:0003468	Abnormal vertebral morphology	2316	FLNA	OMIM:309350
HP:0003468	Abnormal vertebral morphology	285590	SH3PXD2B	OMIM:249420
HP:0003468	Abnormal vertebral morphology	53335	BCL11A	OMIM:617101
HP:0003468	Abnormal vertebral morphology	9842	PLEKHM1	ORPHA:210110
HP:0003468	Abnormal vertebral morphology	26137	ZBTB20	OMIM:259050
HP:0003468	Abnormal vertebral morphology	26137	ZBTB20	ORPHA:3042
HP:0003468	Abnormal vertebral morphology	55733	HHAT	OMIM:600092
HP:0003468	Abnormal vertebral morphology	29893	PSMC3IP	ORPHA:243
HP:0003468	Abnormal vertebral morphology	171568	POLR3H	ORPHA:243
HP:0003468	Abnormal vertebral morphology	2516	NR5A1	ORPHA:243
HP:0003468	Abnormal vertebral morphology	125150	ZSWIM7	ORPHA:243
HP:0003468	Abnormal vertebral morphology	9210	BMP15	ORPHA:243
HP:0003468	Abnormal vertebral morphology	57122	NUP107	ORPHA:243
HP:0003468	Abnormal vertebral morphology	23514	SPIDR	ORPHA:243
HP:0003468	Abnormal vertebral morphology	2492	FSHR	ORPHA:243
HP:0003468	Abnormal vertebral morphology	56945	MRPS22	ORPHA:243
HP:0003468	Abnormal vertebral morphology	646	BNC1	ORPHA:243
HP:0003468	Abnormal vertebral morphology	5626	PROP1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5626	PROP1	ORPHA:90695
HP:0003468	Abnormal vertebral morphology	89884	LHX4	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	3170	FOXA2	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5449	POU1F1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	8820	HESX1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5015	OTX2	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	6658	SOX3	ORPHA:90695
HP:0003468	Abnormal vertebral morphology	9935	MAFB	ORPHA:233
HP:0003468	Abnormal vertebral morphology	1123	CHN1	ORPHA:233
HP:0003468	Abnormal vertebral morphology	168667	BMPER	ORPHA:66637
HP:0003468	Abnormal vertebral morphology	2245	FGD1	ORPHA:915
HP:0003468	Abnormal vertebral morphology	5331	PLCB3	OMIM:618961
HP:0003468	Abnormal vertebral morphology	79879	CCDC134	OMIM:619795
HP:0003468	Abnormal vertebral morphology	2719	GPC3	OMIM:312870
HP:0003468	Abnormal vertebral morphology	2239	GPC4	OMIM:312870
HP:0003468	Abnormal vertebral morphology	10220	GDF11	OMIM:619122
HP:0003468	Abnormal vertebral morphology	50814	NSDHL	OMIM:308050
HP:0003468	Abnormal vertebral morphology	2317	FLNB	ORPHA:56305
HP:0003468	Abnormal vertebral morphology	2317	FLNB	OMIM:108720
HP:0003468	Abnormal vertebral morphology	415	ARSL	ORPHA:79345
HP:0003468	Abnormal vertebral morphology	411	ARSB	OMIM:253200
HP:0003468	Abnormal vertebral morphology	347734	SLC35B2	OMIM:620269
HP:0003468	Abnormal vertebral morphology	23126	POGZ	OMIM:616364
HP:0003468	Abnormal vertebral morphology	10606	PAICS	OMIM:619859
HP:0003468	Abnormal vertebral morphology	1984	EIF5A	OMIM:619376
HP:0003468	Abnormal vertebral morphology	5251	PHEX	ORPHA:89936
HP:0003468	Abnormal vertebral morphology	10484	SEC23A	OMIM:607812
HP:0003468	Abnormal vertebral morphology	10484	SEC23A	ORPHA:50814
HP:0003468	Abnormal vertebral morphology	10940	POP1	OMIM:617396
HP:0003468	Abnormal vertebral morphology	1182	CLCN3	OMIM:619512
HP:0003468	Abnormal vertebral morphology	10236	HNRNPR	OMIM:620073
HP:0003468	Abnormal vertebral morphology	10735	STAG2	OMIM:301043
HP:0003468	Abnormal vertebral morphology	3021	H3-3B	OMIM:619721
HP:0003468	Abnormal vertebral morphology	6872	TAF1	ORPHA:480907
HP:0003468	Abnormal vertebral morphology	6223	RPS19	OMIM:105650
HP:0003468	Abnormal vertebral morphology	11128	POLR3A	ORPHA:3455
HP:0003468	Abnormal vertebral morphology	84295	PHF6	OMIM:301900
HP:0003468	Abnormal vertebral morphology	5573	PRKAR1A	ORPHA:280651
HP:0003468	Abnormal vertebral morphology	5573	PRKAR1A	OMIM:101800
HP:0003468	Abnormal vertebral morphology	5144	PDE4D	ORPHA:280651
HP:0003468	Abnormal vertebral morphology	2799	GNS	OMIM:252940
HP:0003468	Abnormal vertebral morphology	285362	SUMF1	OMIM:272200
HP:0003468	Abnormal vertebral morphology	5654	HTRA1	ORPHA:199354
HP:0003468	Abnormal vertebral morphology	57216	VANGL2	OMIM:182940
HP:0003468	Abnormal vertebral morphology	6347	CCL2	OMIM:182940
HP:0003468	Abnormal vertebral morphology	81839	VANGL1	OMIM:182940
HP:0003468	Abnormal vertebral morphology	80199	FUZ	OMIM:182940
HP:0003468	Abnormal vertebral morphology	4882	NPR2	OMIM:602875
HP:0003468	Abnormal vertebral morphology	4796	TONSL	OMIM:271510
HP:0003468	Abnormal vertebral morphology	6913	TBX15	OMIM:260660
HP:0003468	Abnormal vertebral morphology	1593	CYP27A1	ORPHA:909
HP:0003468	Abnormal vertebral morphology	3110	MNX1	OMIM:176450
HP:0003468	Abnormal vertebral morphology	2176	FANCC	OMIM:227645
HP:0003468	Abnormal vertebral morphology	8567	MADD	OMIM:619004
HP:0003468	Abnormal vertebral morphology	23592	LEMD3	ORPHA:166119
HP:0003468	Abnormal vertebral morphology	7473	WNT3	ORPHA:3301
HP:0003468	Abnormal vertebral morphology	340419	RSPO2	ORPHA:3301
HP:0003468	Abnormal vertebral morphology	57020	VPS35L	OMIM:619135
HP:0003469	Peripheral dysmyelination	2074	ERCC6	OMIM:133540
HP:0003469	Peripheral dysmyelination	1161	ERCC8	OMIM:216400
HP:0003469	Peripheral dysmyelination	9326	ZNHIT3	OMIM:260565
HP:0003469	Peripheral dysmyelination	4359	MPZ	ORPHA:101082
HP:0003470	Paralysis	9361	LONP1	OMIM:600373
HP:0003470	Paralysis	54332	GDAP1	OMIM:607706
HP:0003470	Paralysis	54332	GDAP1	ORPHA:99948
HP:0003470	Paralysis	54332	GDAP1	ORPHA:101097
HP:0003470	Paralysis	182	JAG1	OMIM:619574
HP:0003470	Paralysis	57716	PRX	OMIM:614895
HP:0003470	Paralysis	59341	TRPV4	OMIM:606071
HP:0003470	Paralysis	10755	GIPC1	ORPHA:98897
HP:0003470	Paralysis	100996717	NOTCH2NLC	ORPHA:98897
HP:0003470	Paralysis	5376	PMP22	OMIM:162500
HP:0003470	Paralysis	5376	PMP22	ORPHA:640
HP:0003470	Paralysis	7125	TNNC2	OMIM:620161
HP:0003470	Paralysis	60482	SLC5A7	OMIM:158580
HP:0003470	Paralysis	79784	MYH14	ORPHA:397744
HP:0003470	Paralysis	23321	TRIM2	OMIM:615490
HP:0003470	Paralysis	112	ADCY6	OMIM:616287
HP:0003470	Paralysis	22943	DKK1	ORPHA:268882
HP:0003470	Paralysis	816	CAMK2B	OMIM:617799
HP:0003470	Paralysis	7428	VHL	ORPHA:29072
HP:0003470	Paralysis	7428	VHL	ORPHA:276621
HP:0003470	Paralysis	1743	DLST	ORPHA:29072
HP:0003470	Paralysis	4191	MDH2	ORPHA:29072
HP:0003470	Paralysis	5979	RET	ORPHA:29072
HP:0003470	Paralysis	5979	RET	ORPHA:276621
HP:0003470	Paralysis	6389	SDHA	ORPHA:29072
HP:0003470	Paralysis	23095	KIF1B	ORPHA:29072
HP:0003470	Paralysis	2271	FH	ORPHA:29072
HP:0003470	Paralysis	8402	SLC25A11	ORPHA:29072
HP:0003470	Paralysis	54949	SDHAF2	ORPHA:29072
HP:0003470	Paralysis	54949	SDHAF2	OMIM:601650
HP:0003470	Paralysis	55654	TMEM127	ORPHA:29072
HP:0003470	Paralysis	4763	NF1	ORPHA:29072
HP:0003470	Paralysis	6391	SDHC	ORPHA:29072
HP:0003470	Paralysis	6391	SDHC	OMIM:605373
HP:0003470	Paralysis	6392	SDHD	ORPHA:29072
HP:0003470	Paralysis	6392	SDHD	ORPHA:276621
HP:0003470	Paralysis	6392	SDHD	OMIM:168000
HP:0003470	Paralysis	6390	SDHB	ORPHA:29072
HP:0003470	Paralysis	6390	SDHB	ORPHA:276621
HP:0003470	Paralysis	4149	MAX	ORPHA:29072
HP:0003470	Paralysis	1788	DNMT3A	ORPHA:276621
HP:0003470	Paralysis	2034	EPAS1	ORPHA:276621
HP:0003470	Paralysis	81846	SBF2	ORPHA:99956
HP:0003470	Paralysis	4287	ATXN3	ORPHA:276244
HP:0003470	Paralysis	4287	ATXN3	ORPHA:276241
HP:0003470	Paralysis	4287	ATXN3	ORPHA:276238
HP:0003470	Paralysis	2273	FHL1	ORPHA:98863
HP:0003470	Paralysis	2010	EMD	ORPHA:98863
HP:0003470	Paralysis	51112	TRAPPC12	ORPHA:500144
HP:0003470	Paralysis	374879	ZNF699	OMIM:619488
HP:0003470	Paralysis	4613	MYCN	OMIM:164280
HP:0003470	Paralysis	113278	SLC52A3	OMIM:211530
HP:0003470	Paralysis	9927	MFN2	ORPHA:99947
HP:0003470	Paralysis	51085	MLXIPL	OMIM:194050
HP:0003470	Paralysis	2006	ELN	OMIM:194050
HP:0003470	Paralysis	26040	SETBP1	ORPHA:798
HP:0003470	Paralysis	79188	TMEM43	ORPHA:98853
HP:0003470	Paralysis	23345	SYNE1	ORPHA:98853
HP:0003470	Paralysis	23224	SYNE2	ORPHA:98853
HP:0003470	Paralysis	4000	LMNA	ORPHA:98853
HP:0003470	Paralysis	1371	CPOX	OMIM:121300
HP:0003470	Paralysis	242	ALOX12B	OMIM:242100
HP:0003470	Paralysis	59344	ALOXE3	OMIM:242100
HP:0003470	Paralysis	590	BCHE	ORPHA:132
HP:0003470	Paralysis	3315	HSPB1	OMIM:608634
HP:0003470	Paralysis	1938	EEF2	ORPHA:101112
HP:0003470	Paralysis	6513	SLC2A1	OMIM:606777
HP:0003470	Paralysis	6513	SLC2A1	ORPHA:71277
HP:0003470	Paralysis	2629	GBA1	ORPHA:2072
HP:0003470	Paralysis	29978	UBQLN2	OMIM:300857
HP:0003470	Paralysis	29978	UBQLN2	ORPHA:803
HP:0003470	Paralysis	8506	CNTNAP1	OMIM:616286
HP:0003470	Paralysis	966	CD59	OMIM:612300
HP:0003470	Paralysis	210	ALAD	OMIM:612740
HP:0003470	Paralysis	60386	SLC25A19	OMIM:613710
HP:0003470	Paralysis	2260	FGFR1	ORPHA:2396
HP:0003470	Paralysis	3845	KRAS	ORPHA:2396
HP:0003470	Paralysis	5428	POLG	OMIM:203700
HP:0003470	Paralysis	25978	CHMP2B	ORPHA:803
HP:0003470	Paralysis	3178	HNRNPA1	ORPHA:803
HP:0003470	Paralysis	8148	TAF15	ORPHA:803
HP:0003470	Paralysis	5445	PON2	ORPHA:803
HP:0003470	Paralysis	9217	VAPB	ORPHA:803
HP:0003470	Paralysis	8878	SQSTM1	ORPHA:803
HP:0003470	Paralysis	5630	PRPH	ORPHA:803
HP:0003470	Paralysis	29110	TBK1	ORPHA:803
HP:0003470	Paralysis	55830	GLT8D1	ORPHA:803
HP:0003470	Paralysis	755	CFAP410	ORPHA:803
HP:0003470	Paralysis	10891	PPARGC1A	ORPHA:803
HP:0003470	Paralysis	6647	SOD1	ORPHA:803
HP:0003470	Paralysis	10133	OPTN	ORPHA:803
HP:0003470	Paralysis	1639	DCTN1	ORPHA:803
HP:0003470	Paralysis	9896	FIG4	ORPHA:803
HP:0003470	Paralysis	5444	PON1	ORPHA:803
HP:0003470	Paralysis	5446	PON3	ORPHA:803
HP:0003470	Paralysis	4744	NEFH	ORPHA:803
HP:0003470	Paralysis	5216	PFN1	ORPHA:803
HP:0003470	Paralysis	9782	MATR3	ORPHA:803
HP:0003470	Paralysis	54209	TREM2	ORPHA:803
HP:0003470	Paralysis	7415	VCP	ORPHA:803
HP:0003470	Paralysis	283	ANG	ORPHA:803
HP:0003470	Paralysis	23435	TARDBP	ORPHA:803
HP:0003470	Paralysis	2733	GLE1	ORPHA:803
HP:0003470	Paralysis	2521	FUS	ORPHA:803
HP:0003470	Paralysis	4750	NEK1	ORPHA:803
HP:0003470	Paralysis	2043	EPHA4	ORPHA:803
HP:0003470	Paralysis	6311	ATXN2	ORPHA:803
HP:0003470	Paralysis	1610	DAO	ORPHA:803
HP:0003470	Paralysis	2066	ERBB4	ORPHA:803
HP:0003470	Paralysis	311	ANXA11	ORPHA:803
HP:0003470	Paralysis	23025	UNC13A	ORPHA:803
HP:0003470	Paralysis	899	CCNF	ORPHA:803
HP:0003470	Paralysis	400916	CHCHD10	ORPHA:803
HP:0003470	Paralysis	100134444	KCNJ18	ORPHA:79102
HP:0003470	Paralysis	2556	GABRA3	ORPHA:79102
HP:0003470	Paralysis	779	CACNA1S	ORPHA:79102
HP:0003470	Paralysis	779	CACNA1S	ORPHA:681
HP:0003470	Paralysis	11235	PDCD10	OMIM:603285
HP:0003470	Paralysis	3098	HK1	OMIM:605285
HP:0003470	Paralysis	6329	SCN4A	ORPHA:681
HP:0003470	Paralysis	10008	KCNE3	ORPHA:681
HP:0003470	Paralysis	6559	SLC12A3	OMIM:263800
HP:0003470	Paralysis	6559	SLC12A3	ORPHA:358
HP:0003470	Paralysis	5498	PPOX	OMIM:176200
HP:0003470	Paralysis	3077	HFE	OMIM:176200
HP:0003470	Paralysis	3145	HMBS	OMIM:176000
HP:0003470	Paralysis	54822	TRPM7	OMIM:105500
HP:0003470	Paralysis	26353	HSPB8	OMIM:158590
HP:0003470	Paralysis	1188	CLCNKB	ORPHA:358
HP:0003470	Paralysis	2760	GM2A	OMIM:272750
HP:0003470	Paralysis	10058	ABCB6	OMIM:609153
HP:0003470	Paralysis	2184	FAH	OMIM:276700
HP:0003470	Paralysis	22880	MORC2	ORPHA:466768
HP:0003470	Paralysis	2548	GAA	OMIM:232300
HP:0003470	Paralysis	84466	MEGF10	OMIM:614399
HP:0003470	Paralysis	7167	TPI1	ORPHA:868
HP:0003470	Paralysis	9531	BAG3	OMIM:612954
HP:0003470	Paralysis	3508	IGHMBP2	OMIM:604320
HP:0003470	Paralysis	65055	REEP1	OMIM:620011
HP:0003470	Paralysis	343641	TGM6	OMIM:613908
HP:0003470	Paralysis	343641	TGM6	ORPHA:276193
HP:0003470	Paralysis	5654	HTRA1	ORPHA:199354
HP:0003470	Paralysis	4841	NONO	ORPHA:466791
HP:0003470	Paralysis	5917	RARS1	OMIM:616140
HP:0003470	Paralysis	5917	RARS1	ORPHA:438114
HP:0003470	Paralysis	5832	ALDH18A1	OMIM:616586
HP:0003470	Paralysis	1593	CYP27A1	OMIM:213700
HP:0003470	Paralysis	9289	ADGRG1	ORPHA:98889
HP:0003470	Paralysis	5297	PI4KA	ORPHA:98889
HP:0003470	Paralysis	27286	SRPX2	ORPHA:98889
HP:0003470	Paralysis	57679	ALS2	OMIM:606353
HP:0003470	Paralysis	4001	LMNB1	OMIM:169500
HP:0003470	Paralysis	2583	B4GALNT1	ORPHA:101006
HP:0003470	Paralysis	116150	NUS1	OMIM:617082
HP:0003470	Paralysis	22872	SEC31A	OMIM:618651
HP:0003470	Paralysis	23503	ZFYVE26	ORPHA:100996
HP:0003470	Paralysis	60	ACTB	OMIM:607371
HP:0003470	Paralysis	4854	NOTCH3	OMIM:125310
HP:0003470	Paralysis	10312	TCIRG1	OMIM:259700
HP:0003470	Paralysis	79628	SH3TC2	ORPHA:99949
HP:0003470	Paralysis	27247	NFU1	OMIM:605711
HP:0003470	Paralysis	1282	COL4A1	OMIM:175780
HP:0003470	Paralysis	91574	MTRFR	OMIM:613559
HP:0003470	Paralysis	1186	CLCN7	OMIM:166600
HP:0003470	Paralysis	773	CACNA1A	ORPHA:569
HP:0003470	Paralysis	112476	PRRT2	ORPHA:569
HP:0003470	Paralysis	6323	SCN1A	ORPHA:569
HP:0003470	Paralysis	477	ATP1A2	ORPHA:569
HP:0003470	Paralysis	8600	TNFSF11	OMIM:259710
HP:0003470	Paralysis	64072	CDH23	ORPHA:91347
HP:0003470	Paralysis	3759	KCNJ2	OMIM:170390
HP:0003470	Paralysis	3759	KCNJ2	ORPHA:37553
HP:0003470	Paralysis	760	CA2	OMIM:259730
HP:0003470	Paralysis	3762	KCNJ5	ORPHA:37553
HP:0003470	Paralysis	5422	POLA1	OMIM:301030
HP:0003470	Paralysis	23498	HAAO	OMIM:617660
HP:0003470	Paralysis	667	DST	OMIM:614653
HP:0009129	Upper limb amyotrophy	2617	GARS1	OMIM:600794
HP:0009129	Upper limb amyotrophy	2617	GARS1	ORPHA:139536
HP:0009129	Upper limb amyotrophy	2617	GARS1	OMIM:601472
HP:0009129	Upper limb amyotrophy	1311	COMP	OMIM:619161
HP:0009129	Upper limb amyotrophy	91252	SLC39A13	ORPHA:157965
HP:0009129	Upper limb amyotrophy	91252	SLC39A13	OMIM:612350
HP:0009129	Upper limb amyotrophy	8985	PLOD3	OMIM:612394
HP:0009129	Upper limb amyotrophy	8884	SLC5A6	OMIM:619903
HP:0009129	Upper limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0009129	Upper limb amyotrophy	65055	REEP1	OMIM:614751
HP:0009129	Upper limb amyotrophy	65055	REEP1	ORPHA:139536
HP:0009129	Upper limb amyotrophy	4703	NEB	OMIM:256030
HP:0009129	Upper limb amyotrophy	3710	ITPR3	OMIM:620111
HP:0009129	Upper limb amyotrophy	3425	IDUA	OMIM:607015
HP:0009129	Upper limb amyotrophy	80208	SPG11	OMIM:604360
HP:0009129	Upper limb amyotrophy	8729	GBF1	OMIM:606483
HP:0009129	Upper limb amyotrophy	59345	GNB4	OMIM:615185
HP:0009129	Upper limb amyotrophy	7143	TNR	OMIM:619653
HP:0009129	Upper limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0009129	Upper limb amyotrophy	65250	CPLANE1	ORPHA:65684
HP:0009129	Upper limb amyotrophy	57562	CEP126	ORPHA:65684
HP:0009129	Upper limb amyotrophy	2705	GJB1	OMIM:302800
HP:0009129	Upper limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0009129	Upper limb amyotrophy	2318	FLNC	OMIM:614065
HP:0009129	Upper limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0009129	Upper limb amyotrophy	64423	INF2	OMIM:614455
HP:0009129	Upper limb amyotrophy	7453	WARS1	OMIM:617721
HP:0009129	Upper limb amyotrophy	57863	CADM3	OMIM:619519
HP:0009129	Upper limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0009129	Upper limb amyotrophy	8878	SQSTM1	ORPHA:603
HP:0009129	Upper limb amyotrophy	7072	TIA1	ORPHA:603
HP:0009129	Upper limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0009129	Upper limb amyotrophy	9782	MATR3	ORPHA:600
HP:0009129	Upper limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0009129	Upper limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0009129	Upper limb amyotrophy	55768	NGLY1	OMIM:615273
HP:0009129	Upper limb amyotrophy	23321	TRIM2	OMIM:615490
HP:0009129	Upper limb amyotrophy	182	JAG1	OMIM:619574
HP:0009129	Upper limb amyotrophy	22880	MORC2	OMIM:616688
HP:0009129	Upper limb amyotrophy	859	CAV3	OMIM:614321
HP:0009129	Upper limb amyotrophy	859	CAV3	ORPHA:488650
HP:0009129	Upper limb amyotrophy	374969	SVBP	OMIM:618569
HP:0009129	Upper limb amyotrophy	1678	TIMM8A	OMIM:304700
HP:0009129	Upper limb amyotrophy	6261	RYR1	ORPHA:178145
HP:0009129	Upper limb amyotrophy	55958	KLHL9	ORPHA:399081
HP:0009129	Upper limb amyotrophy	547	KIF1A	OMIM:614213
HP:0009129	Upper limb amyotrophy	57716	PRX	OMIM:614895
HP:0009129	Upper limb amyotrophy	3035	HARS1	ORPHA:488333
HP:0009129	Upper limb amyotrophy	400916	CHCHD10	ORPHA:276435
HP:0009129	Upper limb amyotrophy	11155	LDB3	ORPHA:98912
HP:0009129	Upper limb amyotrophy	4359	MPZ	ORPHA:3115
HP:0009129	Upper limb amyotrophy	10397	NDRG1	ORPHA:99950
HP:0009129	Upper limb amyotrophy	9420	CYP7B1	OMIM:270800
HP:0009129	Upper limb amyotrophy	9420	CYP7B1	ORPHA:100986
HP:0009129	Upper limb amyotrophy	3798	KIF5A	ORPHA:100991
HP:0009129	Upper limb amyotrophy	9927	MFN2	OMIM:617087
HP:0009129	Upper limb amyotrophy	4625	MYH7	ORPHA:437572
HP:0009129	Upper limb amyotrophy	339855	KY	ORPHA:496689
HP:0009129	Upper limb amyotrophy	7994	KAT6A	OMIM:616268
HP:0009129	Upper limb amyotrophy	4744	NEFH	OMIM:616924
HP:0009129	Upper limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0009129	Upper limb amyotrophy	3315	HSPB1	OMIM:606595
HP:0009129	Upper limb amyotrophy	3315	HSPB1	ORPHA:99940
HP:0009129	Upper limb amyotrophy	3098	HK1	ORPHA:99953
HP:0009129	Upper limb amyotrophy	203859	ANO5	ORPHA:206549
HP:0009129	Upper limb amyotrophy	1134	CHRNA1	OMIM:601462
HP:0009129	Upper limb amyotrophy	4141	MARS1	OMIM:616280
HP:0009129	Upper limb amyotrophy	284058	KANSL1	ORPHA:363965
HP:0009129	Upper limb amyotrophy	284058	KANSL1	ORPHA:363958
HP:0009129	Upper limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0009129	Upper limb amyotrophy	26580	BSCL2	ORPHA:100998
HP:0009129	Upper limb amyotrophy	57679	ALS2	OMIM:205100
HP:0009129	Upper limb amyotrophy	7415	VCP	ORPHA:435387
HP:0009129	Upper limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0009129	Upper limb amyotrophy	80199	FUZ	ORPHA:1136
HP:0009129	Upper limb amyotrophy	58	ACTA1	OMIM:616852
HP:0009129	Upper limb amyotrophy	10342	TFG	OMIM:615658
HP:0009129	Upper limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0009129	Upper limb amyotrophy	89874	SLC25A21	OMIM:618811
HP:0009129	Upper limb amyotrophy	54332	GDAP1	ORPHA:99944
HP:0009129	Upper limb amyotrophy	1639	DCTN1	OMIM:607641
HP:0009129	Upper limb amyotrophy	4000	LMNA	ORPHA:98856
HP:0009129	Upper limb amyotrophy	4747	NEFL	OMIM:607684
HP:0009129	Upper limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0009129	Upper limb amyotrophy	113278	SLC52A3	OMIM:211530
HP:0009129	Upper limb amyotrophy	2395	FXN	ORPHA:95
HP:0003472	Hypocalcemic tetany	1758	DMP1	ORPHA:289176
HP:0003472	Hypocalcemic tetany	5167	ENPP1	ORPHA:289176
HP:0003472	Hypocalcemic tetany	2778	GNAS	OMIM:612462
HP:0003472	Hypocalcemic tetany	2778	GNAS	OMIM:103580
HP:0003472	Hypocalcemic tetany	2778	GNAS	ORPHA:94089
HP:0003472	Hypocalcemic tetany	2778	GNAS	ORPHA:79443
HP:0003472	Hypocalcemic tetany	2778	GNAS	ORPHA:79444
HP:0003472	Hypocalcemic tetany	1497	CTNS	ORPHA:411634
HP:0003472	Hypocalcemic tetany	8675	STX16	ORPHA:94089
HP:0003472	Hypocalcemic tetany	6905	TBCE	ORPHA:93324
HP:0003472	Hypocalcemic tetany	63901	FAM111A	ORPHA:93325
HP:0003474	Somatic sensory dysfunction	9897	WASHC5	OMIM:603563
HP:0003474	Somatic sensory dysfunction	9897	WASHC5	ORPHA:100989
HP:0003474	Somatic sensory dysfunction	23769	FLRT1	ORPHA:320406
HP:0003474	Somatic sensory dysfunction	64837	KLC2	ORPHA:320406
HP:0003474	Somatic sensory dysfunction	340075	ARSI	ORPHA:401815
HP:0003474	Somatic sensory dysfunction	9197	SLC33A1	ORPHA:171863
HP:0003474	Somatic sensory dysfunction	3094	HINT1	ORPHA:324442
HP:0003474	Somatic sensory dysfunction	2643	GCH1	ORPHA:98808
HP:0003474	Somatic sensory dysfunction	4929	NR4A2	ORPHA:98808
HP:0003474	Somatic sensory dysfunction	3615	IMPDH2	ORPHA:98808
HP:0003474	Somatic sensory dysfunction	57704	GBA2	ORPHA:352641
HP:0003474	Somatic sensory dysfunction	57704	GBA2	OMIM:614409
HP:0003474	Somatic sensory dysfunction	4508	MT-ATP6	ORPHA:320360
HP:0003474	Somatic sensory dysfunction	55775	TDP1	ORPHA:94124
HP:0003474	Somatic sensory dysfunction	11128	POLR3A	ORPHA:447896
HP:0003474	Somatic sensory dysfunction	11160	ERLIN2	ORPHA:209951
HP:0003474	Somatic sensory dysfunction	6687	SPG7	ORPHA:99013
HP:0003474	Somatic sensory dysfunction	6687	SPG7	OMIM:607259
HP:0003474	Somatic sensory dysfunction	123606	NIPA1	OMIM:600363
HP:0003474	Somatic sensory dysfunction	55958	KLHL9	ORPHA:399081
HP:0003474	Somatic sensory dysfunction	6253	RTN2	OMIM:604805
HP:0003474	Somatic sensory dysfunction	6253	RTN2	ORPHA:100993
HP:0003474	Somatic sensory dysfunction	5165	PDK3	ORPHA:352675
HP:0003474	Somatic sensory dysfunction	3035	HARS1	ORPHA:488333
HP:0003474	Somatic sensory dysfunction	26278	SACS	OMIM:270550
HP:0003474	Somatic sensory dysfunction	80208	SPG11	OMIM:604360
HP:0003474	Somatic sensory dysfunction	219285	SAMD9L	OMIM:159550
HP:0003474	Somatic sensory dysfunction	28982	FLVCR1	ORPHA:88628
HP:0003474	Somatic sensory dysfunction	28982	FLVCR1	OMIM:609033
HP:0003474	Somatic sensory dysfunction	3329	HSPD1	OMIM:605280
HP:0003474	Somatic sensory dysfunction	3329	HSPD1	ORPHA:100994
HP:0003474	Somatic sensory dysfunction	55157	DARS2	ORPHA:137898
HP:0003474	Somatic sensory dysfunction	5173	PDYN	OMIM:610245
HP:0003474	Somatic sensory dysfunction	9997	SCO2	ORPHA:521411
HP:0003474	Somatic sensory dysfunction	6683	SPAST	OMIM:182601
HP:0003474	Somatic sensory dysfunction	51062	ATL1	OMIM:182600
HP:0003474	Somatic sensory dysfunction	5190	PEX6	ORPHA:95433
HP:0003474	Somatic sensory dysfunction	26580	BSCL2	OMIM:270685
HP:0003474	Somatic sensory dysfunction	6843	VAMP1	ORPHA:251282
HP:0003474	Somatic sensory dysfunction	84188	FAR1	ORPHA:447753
HP:0003474	Somatic sensory dysfunction	5832	ALDH18A1	ORPHA:447753
HP:0003474	Somatic sensory dysfunction	51271	UBAP1	ORPHA:100993
HP:0003474	Somatic sensory dysfunction	126129	CPT1C	ORPHA:444099
HP:0003474	Somatic sensory dysfunction	9420	CYP7B1	OMIM:270800
HP:0003474	Somatic sensory dysfunction	57599	WDR48	ORPHA:401800
HP:0003474	Somatic sensory dysfunction	3839	KPNA3	ORPHA:171612
HP:0003474	Somatic sensory dysfunction	9517	SPTLC2	OMIM:613640
HP:0003474	Somatic sensory dysfunction	51308	REEP2	OMIM:615625
HP:0003474	Somatic sensory dysfunction	3798	KIF5A	OMIM:604187
HP:0003474	Somatic sensory dysfunction	23646	PLD3	OMIM:617770
HP:0003474	Somatic sensory dysfunction	64207	IRF2BPL	OMIM:618088
HP:0003474	Somatic sensory dysfunction	5457	POU4F1	ORPHA:314647
HP:0003474	Somatic sensory dysfunction	23261	CAMTA1	ORPHA:314647
HP:0003474	Somatic sensory dysfunction	5293	PIK3CD	ORPHA:221139
HP:0003474	Somatic sensory dysfunction	90417	KNSTRN	ORPHA:221139
HP:0003474	Somatic sensory dysfunction	7276	TTR	OMIM:105210
HP:0003474	Somatic sensory dysfunction	246243	RNASEH1	OMIM:616479
HP:0003474	Somatic sensory dysfunction	5981	RFC1	OMIM:614575
HP:0003474	Somatic sensory dysfunction	9750	RIPOR2	OMIM:616515
HP:0003474	Somatic sensory dysfunction	6908	TBP	OMIM:607136
HP:0003474	Somatic sensory dysfunction	51128	SAR1B	OMIM:246700
HP:0003474	Somatic sensory dysfunction	4287	ATXN3	OMIM:109150
HP:0003474	Somatic sensory dysfunction	23345	SYNE1	ORPHA:88644
HP:0003474	Somatic sensory dysfunction	7345	UCHL1	OMIM:620221
HP:0003474	Somatic sensory dysfunction	7345	UCHL1	OMIM:615491
HP:0003474	Somatic sensory dysfunction	25894	PLEKHG4	ORPHA:98765
HP:0003474	Somatic sensory dysfunction	724066	ATXN8	ORPHA:98760
HP:0003474	Somatic sensory dysfunction	6315	ATXN8OS	ORPHA:98760
HP:0003474	Somatic sensory dysfunction	6311	ATXN2	OMIM:183090
HP:0003474	Somatic sensory dysfunction	10528	NOP56	OMIM:614153
HP:0003474	Somatic sensory dysfunction	2259	FGF14	OMIM:193003
HP:0003474	Somatic sensory dysfunction	146227	BEAN1	ORPHA:217012
HP:0003474	Somatic sensory dysfunction	10166	SLC25A15	ORPHA:415
HP:0003474	Somatic sensory dysfunction	10166	SLC25A15	OMIM:238970
HP:0003474	Somatic sensory dysfunction	1200	TPP1	ORPHA:284324
HP:0003474	Somatic sensory dysfunction	1200	TPP1	OMIM:609270
HP:0003474	Somatic sensory dysfunction	137492	VPS37A	ORPHA:319199
HP:0003474	Somatic sensory dysfunction	137492	VPS37A	OMIM:614898
HP:0003474	Somatic sensory dysfunction	2395	FXN	OMIM:229300
HP:0003474	Somatic sensory dysfunction	4099	MAG	ORPHA:459056
HP:0003474	Somatic sensory dysfunction	4556	MT-TE	ORPHA:2596
HP:0003474	Somatic sensory dysfunction	5351	PLOD1	ORPHA:1900
HP:0003474	Somatic sensory dysfunction	23111	SPART	ORPHA:101000
HP:0003474	Somatic sensory dysfunction	6712	SPTBN2	OMIM:600224
HP:0003474	Somatic sensory dysfunction	5297	PI4KA	OMIM:619621
HP:0003474	Somatic sensory dysfunction	23503	ZFYVE26	ORPHA:100996
HP:0003474	Somatic sensory dysfunction	2583	B4GALNT1	OMIM:609195
HP:0003474	Somatic sensory dysfunction	23230	VPS13A	ORPHA:2388
HP:0003474	Somatic sensory dysfunction	2065	ERBB3	OMIM:243180
HP:0003474	Somatic sensory dysfunction	6342	SCP2	OMIM:613724
HP:0003474	Somatic sensory dysfunction	10456	HAX1	OMIM:610738
HP:0003474	Somatic sensory dysfunction	85446	ZFHX2	OMIM:147430
HP:0003474	Somatic sensory dysfunction	4803	NGF	ORPHA:64752
HP:0003474	Somatic sensory dysfunction	4803	NGF	OMIM:608654
HP:0003474	Somatic sensory dysfunction	4914	NTRK1	ORPHA:64752
HP:0003474	Somatic sensory dysfunction	4914	NTRK1	ORPHA:642
HP:0003474	Somatic sensory dysfunction	4358	MPV17	OMIM:256810
HP:0003474	Somatic sensory dysfunction	54463	RETREG1	OMIM:201300
HP:0003474	Somatic sensory dysfunction	65125	WNK1	OMIM:201300
HP:0003474	Somatic sensory dysfunction	6335	SCN9A	OMIM:201300
HP:0003474	Somatic sensory dysfunction	6335	SCN9A	OMIM:243000
HP:0003474	Somatic sensory dysfunction	5274	SERPINI1	OMIM:604218
HP:0003474	Somatic sensory dysfunction	4141	MARS1	OMIM:616280
HP:0003474	Somatic sensory dysfunction	91574	MTRFR	ORPHA:254930
HP:0003474	Somatic sensory dysfunction	91574	MTRFR	OMIM:615035
HP:0003474	Somatic sensory dysfunction	91574	MTRFR	OMIM:613559
HP:0003474	Somatic sensory dysfunction	91574	MTRFR	ORPHA:320375
HP:0003474	Somatic sensory dysfunction	127833	SYT2	OMIM:616040
HP:0003474	Somatic sensory dysfunction	112	ADCY6	OMIM:616287
HP:0003474	Somatic sensory dysfunction	59341	TRPV4	OMIM:606071
HP:0003474	Somatic sensory dysfunction	59341	TRPV4	OMIM:181405
HP:0003474	Somatic sensory dysfunction	4311	MME	OMIM:617018
HP:0003474	Somatic sensory dysfunction	4311	MME	OMIM:617017
HP:0003474	Somatic sensory dysfunction	4311	MME	ORPHA:497764
HP:0003474	Somatic sensory dysfunction	9782	MATR3	OMIM:606070
HP:0003474	Somatic sensory dysfunction	9782	MATR3	ORPHA:600
HP:0003474	Somatic sensory dysfunction	10516	FBLN5	OMIM:608895
HP:0003474	Somatic sensory dysfunction	10516	FBLN5	OMIM:619764
HP:0003474	Somatic sensory dysfunction	10743	RAI1	ORPHA:477817
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	OMIM:607831
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	ORPHA:101097
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	OMIM:214400
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	OMIM:608340
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	ORPHA:99948
HP:0003474	Somatic sensory dysfunction	54332	GDAP1	ORPHA:99944
HP:0003474	Somatic sensory dysfunction	56704	JPH1	OMIM:607831
HP:0003474	Somatic sensory dysfunction	7084	TK2	ORPHA:254886
HP:0003474	Somatic sensory dysfunction	538	ATP7A	OMIM:300489
HP:0003474	Somatic sensory dysfunction	25814	ATXN10	OMIM:603516
HP:0003474	Somatic sensory dysfunction	200205	IBA57	OMIM:616451
HP:0003474	Somatic sensory dysfunction	90678	LRSAM1	OMIM:614436
HP:0003474	Somatic sensory dysfunction	81846	SBF2	OMIM:604563
HP:0003474	Somatic sensory dysfunction	81846	SBF2	ORPHA:99956
HP:0003474	Somatic sensory dysfunction	65055	REEP1	ORPHA:101011
HP:0003474	Somatic sensory dysfunction	65055	REEP1	OMIM:610250
HP:0003474	Somatic sensory dysfunction	8888	MCM3AP	OMIM:618124
HP:0003474	Somatic sensory dysfunction	215	ABCD1	ORPHA:139399
HP:0003474	Somatic sensory dysfunction	9131	AIFM1	OMIM:300614
HP:0003474	Somatic sensory dysfunction	9131	AIFM1	OMIM:310490
HP:0003474	Somatic sensory dysfunction	5631	PRPS1	OMIM:311070
HP:0003474	Somatic sensory dysfunction	91137	SLC25A46	OMIM:616505
HP:0003474	Somatic sensory dysfunction	10157	AASS	ORPHA:3124
HP:0003474	Somatic sensory dysfunction	23400	ATP13A2	OMIM:606693
HP:0003474	Somatic sensory dysfunction	23400	ATP13A2	OMIM:617225
HP:0003474	Somatic sensory dysfunction	823	CAPN1	OMIM:616907
HP:0003474	Somatic sensory dysfunction	2632	GBE1	ORPHA:206583
HP:0003474	Somatic sensory dysfunction	2632	GBE1	OMIM:263570
HP:0003474	Somatic sensory dysfunction	857	CAV1	OMIM:606721
HP:0003474	Somatic sensory dysfunction	2705	GJB1	OMIM:302800
HP:0003474	Somatic sensory dysfunction	64423	INF2	OMIM:614455
HP:0003474	Somatic sensory dysfunction	26090	ABHD12	OMIM:612674
HP:0003474	Somatic sensory dysfunction	3735	KARS1	OMIM:613641
HP:0003474	Somatic sensory dysfunction	54840	APTX	OMIM:208920
HP:0003474	Somatic sensory dysfunction	9531	BAG3	OMIM:612954
HP:0003474	Somatic sensory dysfunction	4000	LMNA	OMIM:605588
HP:0003474	Somatic sensory dysfunction	4000	LMNA	ORPHA:98856
HP:0003474	Somatic sensory dysfunction	81857	MED25	OMIM:605589
HP:0003474	Somatic sensory dysfunction	65260	COA7	OMIM:618387
HP:0003474	Somatic sensory dysfunction	57863	CADM3	OMIM:619519
HP:0003474	Somatic sensory dysfunction	8659	ALDH4A1	ORPHA:79101
HP:0003474	Somatic sensory dysfunction	7507	XPA	OMIM:278700
HP:0003474	Somatic sensory dysfunction	8898	MTMR2	OMIM:601382
HP:0003474	Somatic sensory dysfunction	6305	SBF1	OMIM:615284
HP:0003474	Somatic sensory dysfunction	5375	PMP2	OMIM:618279
HP:0003474	Somatic sensory dysfunction	4669	NAGLU	OMIM:616491
HP:0003474	Somatic sensory dysfunction	23095	KIF1B	OMIM:118210
HP:0003474	Somatic sensory dysfunction	83636	C19orf12	OMIM:615043
HP:0003474	Somatic sensory dysfunction	5192	PEX10	OMIM:614871
HP:0003474	Somatic sensory dysfunction	400916	CHCHD10	OMIM:615048
HP:0003474	Somatic sensory dysfunction	859	CAV3	ORPHA:488650
HP:0003474	Somatic sensory dysfunction	6663	SOX10	OMIM:609136
HP:0003474	Somatic sensory dysfunction	3710	ITPR3	OMIM:620111
HP:0003474	Somatic sensory dysfunction	8565	YARS1	OMIM:608323
HP:0003474	Somatic sensory dysfunction	3300	DNAJB2	OMIM:614881
HP:0003474	Somatic sensory dysfunction	60386	SLC25A19	OMIM:613710
HP:0003474	Somatic sensory dysfunction	79784	MYH14	OMIM:614369
HP:0003474	Somatic sensory dysfunction	8139	GAN	ORPHA:643
HP:0003474	Somatic sensory dysfunction	8139	GAN	OMIM:256850
HP:0003474	Somatic sensory dysfunction	26353	HSPB8	OMIM:608673
HP:0003474	Somatic sensory dysfunction	4668	NAGA	OMIM:609242
HP:0003474	Somatic sensory dysfunction	3098	HK1	ORPHA:99953
HP:0003474	Somatic sensory dysfunction	3098	HK1	OMIM:605285
HP:0003474	Somatic sensory dysfunction	79628	SH3TC2	OMIM:601596
HP:0003474	Somatic sensory dysfunction	59345	GNB4	OMIM:615185
HP:0003474	Somatic sensory dysfunction	3508	IGHMBP2	OMIM:616155
HP:0003474	Somatic sensory dysfunction	22948	CCT5	OMIM:256840
HP:0003474	Somatic sensory dysfunction	57716	PRX	OMIM:614895
HP:0003474	Somatic sensory dysfunction	57716	PRX	OMIM:145900
HP:0003474	Somatic sensory dysfunction	16	AARS1	OMIM:613287
HP:0003474	Somatic sensory dysfunction	1337	COX6A1	OMIM:616039
HP:0003474	Somatic sensory dysfunction	1959	EGR2	OMIM:145900
HP:0003474	Somatic sensory dysfunction	4001	LMNB1	ORPHA:99027
HP:0003474	Somatic sensory dysfunction	1785	DNM2	OMIM:606482
HP:0003474	Somatic sensory dysfunction	2617	GARS1	OMIM:601472
HP:0003474	Somatic sensory dysfunction	8729	GBF1	OMIM:606483
HP:0003474	Somatic sensory dysfunction	26191	PTPN22	ORPHA:397
HP:0003474	Somatic sensory dysfunction	3106	HLA-B	ORPHA:397
HP:0003474	Somatic sensory dysfunction	3106	HLA-B	ORPHA:117
HP:0003474	Somatic sensory dysfunction	3123	HLA-DRB1	ORPHA:397
HP:0003474	Somatic sensory dysfunction	3123	HLA-DRB1	OMIM:126200
HP:0003474	Somatic sensory dysfunction	8974	P4HA2	ORPHA:397
HP:0003474	Somatic sensory dysfunction	4352	MPL	ORPHA:71493
HP:0003474	Somatic sensory dysfunction	4352	MPL	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	7066	THPO	ORPHA:71493
HP:0003474	Somatic sensory dysfunction	3717	JAK2	ORPHA:71493
HP:0003474	Somatic sensory dysfunction	3717	JAK2	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	6399	TRAPPC2	ORPHA:93284
HP:0003474	Somatic sensory dysfunction	2767	GNA11	ORPHA:428
HP:0003474	Somatic sensory dysfunction	2767	GNA11	OMIM:615361
HP:0003474	Somatic sensory dysfunction	846	CASR	ORPHA:428
HP:0003474	Somatic sensory dysfunction	846	CASR	OMIM:601198
HP:0003474	Somatic sensory dysfunction	2778	GNAS	ORPHA:94089
HP:0003474	Somatic sensory dysfunction	2778	GNAS	ORPHA:562
HP:0003474	Somatic sensory dysfunction	2778	GNAS	ORPHA:79443
HP:0003474	Somatic sensory dysfunction	2778	GNAS	ORPHA:79444
HP:0003474	Somatic sensory dysfunction	8675	STX16	ORPHA:94089
HP:0003474	Somatic sensory dysfunction	4072	EPCAM	ORPHA:144
HP:0003474	Somatic sensory dysfunction	4292	MLH1	ORPHA:144
HP:0003474	Somatic sensory dysfunction	5395	PMS2	ORPHA:144
HP:0003474	Somatic sensory dysfunction	27030	MLH3	ORPHA:144
HP:0003474	Somatic sensory dysfunction	22909	FAN1	ORPHA:144
HP:0003474	Somatic sensory dysfunction	7048	TGFBR2	ORPHA:144
HP:0003474	Somatic sensory dysfunction	3845	KRAS	ORPHA:144
HP:0003474	Somatic sensory dysfunction	5290	PIK3CA	ORPHA:144
HP:0003474	Somatic sensory dysfunction	2956	MSH6	ORPHA:144
HP:0003474	Somatic sensory dysfunction	5378	PMS1	ORPHA:144
HP:0003474	Somatic sensory dysfunction	4436	MSH2	ORPHA:144
HP:0003474	Somatic sensory dysfunction	64218	SEMA4A	ORPHA:440437
HP:0003474	Somatic sensory dysfunction	657	BMPR1A	ORPHA:440437
HP:0003474	Somatic sensory dysfunction	6224	RPS20	ORPHA:440437
HP:0003474	Somatic sensory dysfunction	10560	SLC19A2	ORPHA:49827
HP:0003474	Somatic sensory dysfunction	7132	TNFRSF1A	ORPHA:32960
HP:0003474	Somatic sensory dysfunction	3980	LIG3	ORPHA:298
HP:0003474	Somatic sensory dysfunction	50484	RRM2B	ORPHA:298
HP:0003474	Somatic sensory dysfunction	9630	GNA14	ORPHA:1063
HP:0003474	Somatic sensory dysfunction	22954	TRIM32	OMIM:254110
HP:0003474	Somatic sensory dysfunction	64856	VWA1	OMIM:619216
HP:0003474	Somatic sensory dysfunction	6513	SLC2A1	OMIM:601042
HP:0003474	Somatic sensory dysfunction	6513	SLC2A1	ORPHA:98811
HP:0003474	Somatic sensory dysfunction	6513	SLC2A1	ORPHA:53583
HP:0003474	Somatic sensory dysfunction	83550	GPR101	ORPHA:963
HP:0003474	Somatic sensory dysfunction	9049	AIP	ORPHA:963
HP:0003474	Somatic sensory dysfunction	3852	KRT5	ORPHA:79400
HP:0003474	Somatic sensory dysfunction	3861	KRT14	ORPHA:79400
HP:0003474	Somatic sensory dysfunction	8131	NPRL3	ORPHA:98820
HP:0003474	Somatic sensory dysfunction	10641	NPRL2	ORPHA:98820
HP:0003474	Somatic sensory dysfunction	9681	DEPDC5	ORPHA:98820
HP:0003474	Somatic sensory dysfunction	7389	UROD	ORPHA:95159
HP:0003474	Somatic sensory dysfunction	4524	MTHFR	OMIM:236250
HP:0003474	Somatic sensory dysfunction	6557	SLC12A1	OMIM:601678
HP:0003474	Somatic sensory dysfunction	6329	SCN4A	ORPHA:682
HP:0003474	Somatic sensory dysfunction	3758	KCNJ1	OMIM:241200
HP:0003474	Somatic sensory dysfunction	595	CCND1	ORPHA:29073
HP:0003474	Somatic sensory dysfunction	9150	CTDP1	ORPHA:48431
HP:0003474	Somatic sensory dysfunction	4221	MEN1	ORPHA:97279
HP:0003474	Somatic sensory dysfunction	7528	YY1	ORPHA:97279
HP:0003474	Somatic sensory dysfunction	2717	GLA	OMIM:301500
HP:0003474	Somatic sensory dysfunction	210	ALAD	OMIM:612740
HP:0003474	Somatic sensory dysfunction	27286	SRPX2	ORPHA:1945
HP:0003474	Somatic sensory dysfunction	2903	GRIN2A	ORPHA:1945
HP:0003474	Somatic sensory dysfunction	2566	GABRG2	ORPHA:1945
HP:0003474	Somatic sensory dysfunction	84842	HPDL	OMIM:619027
HP:0003474	Somatic sensory dysfunction	10019	SH2B3	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	811	CALR	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	7157	TP53	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	54790	TET2	ORPHA:3318
HP:0003474	Somatic sensory dysfunction	10801	SEPTIN9	ORPHA:2901
HP:0003474	Somatic sensory dysfunction	6559	SLC12A3	OMIM:263800
HP:0003474	Somatic sensory dysfunction	6559	SLC12A3	ORPHA:358
HP:0003474	Somatic sensory dysfunction	7390	UROS	ORPHA:79277
HP:0003474	Somatic sensory dysfunction	2623	GATA1	ORPHA:79277
HP:0003474	Somatic sensory dysfunction	1188	CLCNKB	ORPHA:358
HP:0003474	Somatic sensory dysfunction	3119	HLA-DQB1	OMIM:126200
HP:0003474	Somatic sensory dysfunction	5133	PDCD1	OMIM:126200
HP:0003474	Somatic sensory dysfunction	149233	IL23R	ORPHA:117
HP:0003474	Somatic sensory dysfunction	6775	STAT4	ORPHA:117
HP:0003474	Somatic sensory dysfunction	3586	IL10	ORPHA:117
HP:0003474	Somatic sensory dysfunction	4210	MEFV	ORPHA:117
HP:0003474	Somatic sensory dysfunction	1230	CCR1	ORPHA:117
HP:0003474	Somatic sensory dysfunction	355	FAS	ORPHA:117
HP:0003474	Somatic sensory dysfunction	3592	IL12A	ORPHA:117
HP:0003474	Somatic sensory dysfunction	101928376	IL12A-AS1	ORPHA:117
HP:0003474	Somatic sensory dysfunction	7099	TLR4	ORPHA:117
HP:0003474	Somatic sensory dysfunction	3459	IFNGR1	ORPHA:117
HP:0003474	Somatic sensory dysfunction	720	C4A	ORPHA:117
HP:0003474	Somatic sensory dysfunction	337867	UBAC2	ORPHA:117
HP:0003474	Somatic sensory dysfunction	51752	ERAP1	ORPHA:117
HP:0003474	Somatic sensory dysfunction	8302	KLRC4	ORPHA:117
HP:0003474	Somatic sensory dysfunction	3475	IFRD1	ORPHA:98771
HP:0003474	Somatic sensory dysfunction	5654	HTRA1	ORPHA:199354
HP:0003474	Somatic sensory dysfunction	7840	ALMS1	ORPHA:64
HP:0003474	Somatic sensory dysfunction	1938	EEF2	ORPHA:101112
HP:0003474	Somatic sensory dysfunction	80207	OPA3	ORPHA:67036
HP:0003474	Somatic sensory dysfunction	1778	DYNC1H1	OMIM:158600
HP:0003474	Somatic sensory dysfunction	57165	GJC2	ORPHA:320401
HP:0003474	Somatic sensory dysfunction	8029	CUBN	OMIM:261100
HP:0003474	Somatic sensory dysfunction	1593	CYP27A1	ORPHA:909
HP:0003474	Somatic sensory dysfunction	23533	PIK3R5	ORPHA:64753
HP:0003474	Somatic sensory dysfunction	23064	SETX	ORPHA:64753
HP:0003474	Somatic sensory dysfunction	23064	SETX	ORPHA:357043
HP:0003474	Somatic sensory dysfunction	29926	GMPPA	OMIM:615510
HP:0003474	Somatic sensory dysfunction	2318	FLNC	ORPHA:63273
HP:0003474	Somatic sensory dysfunction	4744	NEFH	OMIM:616924
HP:0003474	Somatic sensory dysfunction	4747	NEFL	ORPHA:99939
HP:0003474	Somatic sensory dysfunction	4747	NEFL	ORPHA:101085
HP:0003474	Somatic sensory dysfunction	11284	PNKP	ORPHA:459033
HP:0003474	Somatic sensory dysfunction	5582	PRKCG	ORPHA:98763
HP:0003474	Somatic sensory dysfunction	7879	RAB7A	OMIM:600882
HP:0003474	Somatic sensory dysfunction	5191	PEX7	OMIM:266500
HP:0003474	Somatic sensory dysfunction	5264	PHYH	OMIM:266500
HP:0003474	Somatic sensory dysfunction	22880	MORC2	ORPHA:466768
HP:0003474	Somatic sensory dysfunction	10342	TFG	ORPHA:90117
HP:0003474	Somatic sensory dysfunction	10342	TFG	OMIM:615658
HP:0003474	Somatic sensory dysfunction	9896	FIG4	OMIM:612577
HP:0003474	Somatic sensory dysfunction	2581	GALC	ORPHA:206448
HP:0003474	Somatic sensory dysfunction	100996717	NOTCH2NLC	OMIM:603472
HP:0003474	Somatic sensory dysfunction	487	ATP2A1	OMIM:601003
HP:0003474	Somatic sensory dysfunction	351	APP	ORPHA:324703
HP:0003474	Somatic sensory dysfunction	1436	CSF1R	OMIM:221820
HP:0003474	Somatic sensory dysfunction	1600	DAB1	ORPHA:363710
HP:0003474	Somatic sensory dysfunction	57449	PLEKHG5	OMIM:615376
HP:0003474	Somatic sensory dysfunction	2694	CBLIF	OMIM:261000
HP:0003474	Somatic sensory dysfunction	57679	ALS2	OMIM:205100
HP:0003474	Somatic sensory dysfunction	22943	DKK1	ORPHA:268882
HP:0003474	Somatic sensory dysfunction	5921	RASA1	ORPHA:90307
HP:0003474	Somatic sensory dysfunction	10939	AFG3L2	OMIM:610246
HP:0003474	Somatic sensory dysfunction	122622	ADSS1	ORPHA:482601
HP:0003474	Somatic sensory dysfunction	5238	PGM3	OMIM:615816
HP:0003474	Somatic sensory dysfunction	57410	SCYL1	ORPHA:466794
HP:0003474	Somatic sensory dysfunction	55187	VPS13D	ORPHA:95434
HP:0003474	Somatic sensory dysfunction	27072	VPS41	ORPHA:95434
HP:0003474	Somatic sensory dysfunction	6314	ATXN7	ORPHA:94147
HP:0003474	Somatic sensory dysfunction	2131	EXT1	ORPHA:321
HP:0003474	Somatic sensory dysfunction	2132	EXT2	ORPHA:321
HP:0003474	Somatic sensory dysfunction	1130	LYST	ORPHA:167
HP:0003474	Somatic sensory dysfunction	10397	NDRG1	ORPHA:99950
HP:0003474	Somatic sensory dysfunction	10935	PRDX3	OMIM:619862
HP:0003474	Somatic sensory dysfunction	8291	DYSF	ORPHA:178400
HP:0003474	Somatic sensory dysfunction	80199	FUZ	ORPHA:1136
HP:0003474	Somatic sensory dysfunction	55526	DHTKD1	OMIM:615025
HP:0003474	Somatic sensory dysfunction	4137	MAPT	ORPHA:240103
HP:0003474	Somatic sensory dysfunction	4771	NF2	ORPHA:637
HP:0003474	Somatic sensory dysfunction	5498	PPOX	ORPHA:79473
HP:0003474	Somatic sensory dysfunction	55154	MSTO1	ORPHA:502423
HP:0003474	Somatic sensory dysfunction	3145	HMBS	ORPHA:79276
HP:0003474	Somatic sensory dysfunction	9927	MFN2	ORPHA:99947
HP:0003474	Somatic sensory dysfunction	4359	MPZ	ORPHA:3115
HP:0003474	Somatic sensory dysfunction	4359	MPZ	ORPHA:101082
HP:0003474	Somatic sensory dysfunction	60481	ELOVL5	ORPHA:423296
HP:0003474	Somatic sensory dysfunction	2313	FLI1	ORPHA:370348
HP:0003474	Somatic sensory dysfunction	4547	MTTP	ORPHA:14
HP:0003474	Somatic sensory dysfunction	55703	POLR3B	OMIM:619742
HP:0003474	Somatic sensory dysfunction	7515	XRCC1	OMIM:617633
HP:0003474	Somatic sensory dysfunction	3748	KCNC3	ORPHA:98768
HP:0003474	Somatic sensory dysfunction	3748	KCNC3	OMIM:605259
HP:0003474	Somatic sensory dysfunction	476	ATP1A1	OMIM:618036
HP:0003474	Somatic sensory dysfunction	11261	CHP1	OMIM:618438
HP:0003474	Somatic sensory dysfunction	51816	ADA2	OMIM:182410
HP:0003474	Somatic sensory dysfunction	50717	DCAF8	OMIM:610100
HP:0003474	Somatic sensory dysfunction	50846	DHH	OMIM:607080
HP:0003474	Somatic sensory dysfunction	3752	KCND3	ORPHA:98772
HP:0003474	Somatic sensory dysfunction	7504	XK	OMIM:300842
HP:0003474	Somatic sensory dysfunction	8913	CACNA1G	ORPHA:458803
HP:0003474	Somatic sensory dysfunction	8913	CACNA1G	OMIM:616795
HP:0003474	Somatic sensory dysfunction	271	AMPD2	OMIM:615686
HP:0003474	Somatic sensory dysfunction	7415	VCP	ORPHA:435387
HP:0003474	Somatic sensory dysfunction	87178	PNPT1	OMIM:608703
HP:0003474	Somatic sensory dysfunction	9990	SLC12A6	OMIM:620068
HP:0003474	Somatic sensory dysfunction	80821	DDHD1	ORPHA:101008
HP:0003474	Somatic sensory dysfunction	9759	HDAC4	OMIM:600430
HP:0003474	Somatic sensory dysfunction	253738	EBF3	OMIM:617330
HP:0003474	Somatic sensory dysfunction	55768	NGLY1	OMIM:615273
HP:0003474	Somatic sensory dysfunction	8242	KDM5C	OMIM:300534
HP:0003474	Somatic sensory dysfunction	2892	GRIA3	ORPHA:364028
HP:0003474	Somatic sensory dysfunction	8218	CLTCL1	ORPHA:453510
HP:0003474	Somatic sensory dysfunction	55699	IARS2	OMIM:616007
HP:0003474	Somatic sensory dysfunction	7204	TRIO	OMIM:618825
HP:0003474	Somatic sensory dysfunction	7204	TRIO	OMIM:617061
HP:0003474	Somatic sensory dysfunction	10059	DNM1L	OMIM:614388
HP:0003474	Somatic sensory dysfunction	781	CACNA2D1	OMIM:620149
HP:0003474	Somatic sensory dysfunction	80036	TRPM3	OMIM:620224
HP:0003474	Somatic sensory dysfunction	4204	MECP2	OMIM:300260
HP:0003474	Somatic sensory dysfunction	219854	TMEM218	OMIM:619562
HP:0003474	Somatic sensory dysfunction	11280	SCN11A	OMIM:615548
HP:0003474	Somatic sensory dysfunction	10522	DEAF1	OMIM:615828
HP:0003474	Somatic sensory dysfunction	8518	ELP1	ORPHA:1764
HP:0003474	Somatic sensory dysfunction	85358	SHANK3	OMIM:606232
HP:0003474	Somatic sensory dysfunction	85358	SHANK3	ORPHA:48652
HP:0003474	Somatic sensory dysfunction	7681	MKRN3	OMIM:176270
HP:0003474	Somatic sensory dysfunction	3653	IPW	OMIM:176270
HP:0003474	Somatic sensory dysfunction	791114	PWRN1	OMIM:176270
HP:0003474	Somatic sensory dysfunction	100033413	SNORD116-1	OMIM:176270
HP:0003474	Somatic sensory dysfunction	8924	HERC2	OMIM:176270
HP:0003474	Somatic sensory dysfunction	145624	PWAR1	OMIM:176270
HP:0003474	Somatic sensory dysfunction	23742	NPAP1	OMIM:176270
HP:0003474	Somatic sensory dysfunction	338433	SNORD115-1	OMIM:176270
HP:0003474	Somatic sensory dysfunction	7343	UBTF	ORPHA:500180
HP:0003474	Somatic sensory dysfunction	3190	HNRNPK	ORPHA:453504
HP:0003474	Somatic sensory dysfunction	3190	HNRNPK	ORPHA:352665
HP:0003474	Somatic sensory dysfunction	9839	ZEB2	ORPHA:261537
HP:0003474	Somatic sensory dysfunction	9839	ZEB2	ORPHA:261552
HP:0003474	Somatic sensory dysfunction	6792	CDKL5	ORPHA:3095
HP:0003474	Somatic sensory dysfunction	6792	CDKL5	ORPHA:505652
HP:0003474	Somatic sensory dysfunction	22854	NTNG1	ORPHA:3095
HP:0003474	Somatic sensory dysfunction	9568	GABBR2	ORPHA:3095
HP:0003474	Somatic sensory dysfunction	8243	SMC1A	ORPHA:3095
HP:0003474	Somatic sensory dysfunction	8567	MADD	OMIM:619004
HP:0003474	Somatic sensory dysfunction	8567	MADD	OMIM:619005
HP:0003474	Somatic sensory dysfunction	8566	PDXK	OMIM:618511
HP:0003474	Somatic sensory dysfunction	283489	CHAMP1	OMIM:616579
HP:0003474	Somatic sensory dysfunction	6652	SORD	OMIM:618912
HP:0003474	Somatic sensory dysfunction	2314	FLII	ORPHA:819
HP:0003474	Somatic sensory dysfunction	23096	IQSEC2	ORPHA:819
HP:0003474	Somatic sensory dysfunction	3481	IGF2	ORPHA:2128
HP:0003474	Somatic sensory dysfunction	10984	KCNQ1OT1	ORPHA:2128
HP:0003474	Somatic sensory dysfunction	283120	H19	ORPHA:2128
HP:0003474	Somatic sensory dysfunction	3977	LIFR	ORPHA:3206
HP:0003474	Somatic sensory dysfunction	3977	LIFR	OMIM:601559
HP:0003474	Somatic sensory dysfunction	2200	FBN1	ORPHA:2833
HP:0003474	Somatic sensory dysfunction	6310	ATXN1	OMIM:164400
HP:0003474	Somatic sensory dysfunction	6638	SNRPN	ORPHA:177904
HP:0003474	Somatic sensory dysfunction	6638	SNRPN	ORPHA:177901
HP:0003474	Somatic sensory dysfunction	6638	SNRPN	ORPHA:98754
HP:0003474	Somatic sensory dysfunction	4692	NDN	ORPHA:177904
HP:0003474	Somatic sensory dysfunction	4692	NDN	ORPHA:177901
HP:0003474	Somatic sensory dysfunction	4692	NDN	ORPHA:98754
HP:0003474	Somatic sensory dysfunction	54551	MAGEL2	ORPHA:177904
HP:0003474	Somatic sensory dysfunction	54551	MAGEL2	ORPHA:177901
HP:0003474	Somatic sensory dysfunction	54551	MAGEL2	ORPHA:398069
HP:0003474	Somatic sensory dysfunction	54551	MAGEL2	ORPHA:98754
HP:0003474	Somatic sensory dysfunction	4948	OCA2	ORPHA:177904
HP:0003474	Somatic sensory dysfunction	4948	OCA2	ORPHA:177901
HP:0003474	Somatic sensory dysfunction	4948	OCA2	ORPHA:98754
HP:0003474	Somatic sensory dysfunction	182	JAG1	OMIM:619574
HP:0003474	Somatic sensory dysfunction	4010	LMX1B	ORPHA:2614
HP:0003474	Somatic sensory dysfunction	19	ABCA1	OMIM:205400
HP:0003474	Somatic sensory dysfunction	19	ABCA1	ORPHA:31150
HP:0003474	Somatic sensory dysfunction	3868	KRT16	ORPHA:2199
HP:0003474	Somatic sensory dysfunction	3857	KRT9	ORPHA:2199
HP:0003474	Somatic sensory dysfunction	3848	KRT1	ORPHA:2199
HP:0003474	Somatic sensory dysfunction	3248	HPGD	ORPHA:2796
HP:0003474	Somatic sensory dysfunction	6578	SLCO2A1	ORPHA:2796
HP:0003474	Somatic sensory dysfunction	773	CACNA1A	ORPHA:569
HP:0003474	Somatic sensory dysfunction	112476	PRRT2	ORPHA:569
HP:0003474	Somatic sensory dysfunction	6323	SCN1A	ORPHA:569
HP:0003474	Somatic sensory dysfunction	477	ATP1A2	ORPHA:569
HP:0003474	Somatic sensory dysfunction	81790	RNF170	OMIM:619686
HP:0003474	Somatic sensory dysfunction	3074	HEXB	OMIM:268800
HP:0003474	Somatic sensory dysfunction	7051	TGM1	ORPHA:100976
HP:0003474	Somatic sensory dysfunction	6492	SIM1	ORPHA:398079
HP:0003474	Somatic sensory dysfunction	165	AEBP1	ORPHA:536532
HP:0003474	Somatic sensory dysfunction	3315	HSPB1	ORPHA:99940
HP:0003474	Somatic sensory dysfunction	10558	SPTLC1	ORPHA:36386
HP:0003474	Somatic sensory dysfunction	4677	NARS1	OMIM:619091
HP:0003474	Somatic sensory dysfunction	4677	NARS1	OMIM:619092
HP:0003474	Somatic sensory dysfunction	343641	TGM6	OMIM:613908
HP:0003474	Somatic sensory dysfunction	10273	STUB1	ORPHA:412057
HP:0003474	Somatic sensory dysfunction	1822	ATN1	ORPHA:101
HP:0003474	Somatic sensory dysfunction	7274	TTPA	OMIM:277460
HP:0003474	Somatic sensory dysfunction	8831	SYNGAP1	ORPHA:544254
HP:0003474	Somatic sensory dysfunction	5611	DNAJC3	OMIM:616192
HP:0003474	Somatic sensory dysfunction	5611	DNAJC3	ORPHA:445062
HP:0003474	Somatic sensory dysfunction	2821	GPI	OMIM:613470
HP:0003474	Somatic sensory dysfunction	63895	PIEZO2	OMIM:617146
HP:0003474	Somatic sensory dysfunction	6389	SDHA	OMIM:619259
HP:0003474	Somatic sensory dysfunction	6336	SCN10A	OMIM:615551
HP:0003474	Somatic sensory dysfunction	114548	NLRP3	ORPHA:47045
HP:0003474	Somatic sensory dysfunction	84504	NKX6-2	ORPHA:527497
HP:0003474	Somatic sensory dysfunction	113189	CHST14	ORPHA:2953
HP:0003474	Somatic sensory dysfunction	113189	CHST14	OMIM:601776
HP:0003474	Somatic sensory dysfunction	29940	DSE	ORPHA:2953
HP:0003474	Somatic sensory dysfunction	2332	FMR1	ORPHA:93256
HP:0003474	Somatic sensory dysfunction	65998	ZFTA	ORPHA:251636
HP:0003474	Somatic sensory dysfunction	5970	RELA	ORPHA:251636
HP:0003474	Somatic sensory dysfunction	9409	PEX16	OMIM:614877
HP:0003474	Somatic sensory dysfunction	1836	SLC26A2	ORPHA:93307
HP:0003474	Somatic sensory dysfunction	5621	PRNP	ORPHA:356
HP:0003474	Somatic sensory dysfunction	1311	COMP	OMIM:619161
HP:0003474	Somatic sensory dysfunction	25923	ATL3	OMIM:615632
HP:0003474	Somatic sensory dysfunction	547	KIF1A	OMIM:614213
HP:0003474	Somatic sensory dysfunction	5376	PMP22	OMIM:162500
HP:0003474	Somatic sensory dysfunction	9692	PRORP	OMIM:619737
HP:0003474	Somatic sensory dysfunction	59335	PRDM12	OMIM:616488
HP:0003474	Somatic sensory dysfunction	57462	MYORG	OMIM:618317
HP:0003474	Somatic sensory dysfunction	5428	POLG	OMIM:607459
HP:0003474	Somatic sensory dysfunction	5428	POLG	OMIM:603041
HP:0003474	Somatic sensory dysfunction	56652	TWNK	OMIM:607459
HP:0003474	Somatic sensory dysfunction	1890	TYMP	OMIM:603041
HP:0003474	Somatic sensory dysfunction	540	ATP7B	OMIM:277900
HP:0003474	Somatic sensory dysfunction	9516	LITAF	OMIM:601098
HP:0003474	Somatic sensory dysfunction	710	SERPING1	OMIM:106100
HP:0003474	Somatic sensory dysfunction	121512	FGD4	OMIM:609311
HP:0003474	Somatic sensory dysfunction	1277	COL1A1	ORPHA:1310
HP:0003474	Somatic sensory dysfunction	259232	NALCN	ORPHA:371364
HP:0003474	Somatic sensory dysfunction	285175	UNC80	ORPHA:371364
HP:0003474	Somatic sensory dysfunction	5660	PSAP	ORPHA:206436
HP:0003474	Somatic sensory dysfunction	3265	HRAS	ORPHA:2874
HP:0002936	Distal sensory impairment	5274	SERPINI1	OMIM:604218
HP:0002936	Distal sensory impairment	4141	MARS1	OMIM:616280
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:118300
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:180800
HP:0002936	Distal sensory impairment	5376	PMP22	ORPHA:90658
HP:0002936	Distal sensory impairment	5376	PMP22	ORPHA:101081
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:118220
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:145900
HP:0002936	Distal sensory impairment	127833	SYT2	OMIM:616040
HP:0002936	Distal sensory impairment	112	ADCY6	OMIM:616287
HP:0002936	Distal sensory impairment	59341	TRPV4	OMIM:606071
HP:0002936	Distal sensory impairment	59341	TRPV4	OMIM:181405
HP:0002936	Distal sensory impairment	80821	DDHD1	OMIM:609340
HP:0002936	Distal sensory impairment	4311	MME	OMIM:617018
HP:0002936	Distal sensory impairment	4311	MME	OMIM:617017
HP:0002936	Distal sensory impairment	4311	MME	ORPHA:497764
HP:0002936	Distal sensory impairment	9782	MATR3	OMIM:606070
HP:0002936	Distal sensory impairment	9782	MATR3	ORPHA:600
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:607684
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:607734
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:617882
HP:0002936	Distal sensory impairment	3315	HSPB1	OMIM:606595
HP:0002936	Distal sensory impairment	10516	FBLN5	OMIM:608895
HP:0002936	Distal sensory impairment	10516	FBLN5	OMIM:619764
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:180800
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607677
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607791
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:118200
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607736
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:145900
HP:0002936	Distal sensory impairment	10743	RAI1	ORPHA:477817
HP:0002936	Distal sensory impairment	56704	JPH1	OMIM:607831
HP:0002936	Distal sensory impairment	7084	TK2	ORPHA:254886
HP:0002936	Distal sensory impairment	538	ATP7A	OMIM:300489
HP:0002936	Distal sensory impairment	25814	ATXN10	OMIM:603516
HP:0002936	Distal sensory impairment	200205	IBA57	OMIM:616451
HP:0002936	Distal sensory impairment	90678	LRSAM1	OMIM:614436
HP:0002936	Distal sensory impairment	81846	SBF2	OMIM:604563
HP:0002936	Distal sensory impairment	81846	SBF2	ORPHA:99956
HP:0002936	Distal sensory impairment	65055	REEP1	ORPHA:101011
HP:0002936	Distal sensory impairment	65055	REEP1	OMIM:610250
HP:0002936	Distal sensory impairment	219285	SAMD9L	OMIM:159550
HP:0002936	Distal sensory impairment	8888	MCM3AP	OMIM:618124
HP:0002936	Distal sensory impairment	55154	MSTO1	OMIM:617675
HP:0002936	Distal sensory impairment	57449	PLEKHG5	OMIM:615376
HP:0002936	Distal sensory impairment	215	ABCD1	ORPHA:139399
HP:0002936	Distal sensory impairment	9131	AIFM1	OMIM:300614
HP:0002936	Distal sensory impairment	9131	AIFM1	OMIM:310490
HP:0002936	Distal sensory impairment	5631	PRPS1	OMIM:311070
HP:0002936	Distal sensory impairment	91137	SLC25A46	OMIM:616505
HP:0002936	Distal sensory impairment	5921	RASA1	ORPHA:90307
HP:0002936	Distal sensory impairment	10157	AASS	ORPHA:3124
HP:0002936	Distal sensory impairment	23400	ATP13A2	OMIM:606693
HP:0002936	Distal sensory impairment	23400	ATP13A2	OMIM:617225
HP:0002936	Distal sensory impairment	823	CAPN1	OMIM:616907
HP:0002936	Distal sensory impairment	2632	GBE1	ORPHA:206583
HP:0002936	Distal sensory impairment	2632	GBE1	OMIM:263570
HP:0002936	Distal sensory impairment	857	CAV1	OMIM:606721
HP:0002936	Distal sensory impairment	2705	GJB1	OMIM:302800
HP:0002936	Distal sensory impairment	64423	INF2	OMIM:614455
HP:0002936	Distal sensory impairment	26090	ABHD12	OMIM:612674
HP:0002936	Distal sensory impairment	3735	KARS1	OMIM:613641
HP:0002936	Distal sensory impairment	54840	APTX	OMIM:208920
HP:0002936	Distal sensory impairment	9896	FIG4	OMIM:611228
HP:0002936	Distal sensory impairment	9531	BAG3	OMIM:612954
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:601152
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:609260
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:617087
HP:0002936	Distal sensory impairment	9927	MFN2	ORPHA:99947
HP:0002936	Distal sensory impairment	121512	FGD4	OMIM:609311
HP:0002936	Distal sensory impairment	4000	LMNA	OMIM:605588
HP:0002936	Distal sensory impairment	4000	LMNA	ORPHA:98856
HP:0002936	Distal sensory impairment	11284	PNKP	OMIM:605589
HP:0002936	Distal sensory impairment	81857	MED25	OMIM:605589
HP:0002936	Distal sensory impairment	65260	COA7	OMIM:618387
HP:0002936	Distal sensory impairment	55699	IARS2	OMIM:616007
HP:0002936	Distal sensory impairment	57863	CADM3	OMIM:619519
HP:0002936	Distal sensory impairment	4744	NEFH	OMIM:616924
HP:0002936	Distal sensory impairment	1778	DYNC1H1	OMIM:614228
HP:0002936	Distal sensory impairment	3839	KPNA3	OMIM:620106
HP:0002936	Distal sensory impairment	1890	TYMP	OMIM:603041
HP:0002936	Distal sensory impairment	8659	ALDH4A1	ORPHA:79101
HP:0002936	Distal sensory impairment	7507	XPA	OMIM:278700
HP:0002936	Distal sensory impairment	8898	MTMR2	OMIM:601382
HP:0002936	Distal sensory impairment	6305	SBF1	OMIM:615284
HP:0002936	Distal sensory impairment	5375	PMP2	OMIM:618279
HP:0002936	Distal sensory impairment	4669	NAGLU	OMIM:616491
HP:0002936	Distal sensory impairment	23095	KIF1B	OMIM:118210
HP:0002936	Distal sensory impairment	83636	C19orf12	OMIM:615043
HP:0002936	Distal sensory impairment	5192	PEX10	OMIM:614871
HP:0002936	Distal sensory impairment	5165	PDK3	ORPHA:352675
HP:0002936	Distal sensory impairment	400916	CHCHD10	OMIM:615048
HP:0002936	Distal sensory impairment	10342	TFG	ORPHA:90117
HP:0002936	Distal sensory impairment	10342	TFG	OMIM:604484
HP:0002936	Distal sensory impairment	859	CAV3	ORPHA:488650
HP:0002936	Distal sensory impairment	6663	SOX10	OMIM:609136
HP:0002936	Distal sensory impairment	3710	ITPR3	OMIM:620111
HP:0002936	Distal sensory impairment	8565	YARS1	OMIM:608323
HP:0002936	Distal sensory impairment	9516	LITAF	OMIM:601098
HP:0002936	Distal sensory impairment	26278	SACS	OMIM:270550
HP:0002936	Distal sensory impairment	3094	HINT1	OMIM:137200
HP:0002936	Distal sensory impairment	3300	DNAJB2	OMIM:614881
HP:0002936	Distal sensory impairment	60386	SLC25A19	OMIM:613710
HP:0002936	Distal sensory impairment	79784	MYH14	OMIM:614369
HP:0002936	Distal sensory impairment	23533	PIK3R5	OMIM:615217
HP:0002936	Distal sensory impairment	80208	SPG11	OMIM:616668
HP:0002936	Distal sensory impairment	8139	GAN	ORPHA:643
HP:0002936	Distal sensory impairment	8139	GAN	OMIM:256850
HP:0002936	Distal sensory impairment	26353	HSPB8	OMIM:608673
HP:0002936	Distal sensory impairment	4668	NAGA	OMIM:609242
HP:0002936	Distal sensory impairment	3098	HK1	ORPHA:99953
HP:0002936	Distal sensory impairment	3098	HK1	OMIM:605285
HP:0002936	Distal sensory impairment	79628	SH3TC2	OMIM:601596
HP:0002936	Distal sensory impairment	4914	NTRK1	ORPHA:642
HP:0002936	Distal sensory impairment	3798	KIF5A	ORPHA:100991
HP:0002936	Distal sensory impairment	3798	KIF5A	OMIM:604187
HP:0002936	Distal sensory impairment	59345	GNB4	OMIM:615185
HP:0002936	Distal sensory impairment	3508	IGHMBP2	OMIM:616155
HP:0002936	Distal sensory impairment	22948	CCT5	OMIM:256840
HP:0002936	Distal sensory impairment	57716	PRX	OMIM:614895
HP:0002936	Distal sensory impairment	57716	PRX	OMIM:145900
HP:0002936	Distal sensory impairment	16	AARS1	OMIM:613287
HP:0002936	Distal sensory impairment	1337	COX6A1	OMIM:616039
HP:0002936	Distal sensory impairment	57165	GJC2	OMIM:613206
HP:0002936	Distal sensory impairment	57410	SCYL1	OMIM:616719
HP:0002936	Distal sensory impairment	1959	EGR2	OMIM:145900
HP:0002936	Distal sensory impairment	4001	LMNB1	ORPHA:99027
HP:0002936	Distal sensory impairment	1785	DNM2	OMIM:606482
HP:0002936	Distal sensory impairment	2617	GARS1	OMIM:601472
HP:0002936	Distal sensory impairment	8729	GBF1	OMIM:606483
HP:0002936	Distal sensory impairment	10558	SPTLC1	OMIM:162400
HP:0002936	Distal sensory impairment	4547	MTTP	ORPHA:14
HP:0002936	Distal sensory impairment	9420	CYP7B1	OMIM:270800
HP:0002936	Distal sensory impairment	5428	POLG	OMIM:157640
HP:0002936	Distal sensory impairment	5428	POLG	OMIM:607459
HP:0002936	Distal sensory impairment	5428	POLG	OMIM:258450
HP:0002936	Distal sensory impairment	5428	POLG	ORPHA:70595
HP:0002936	Distal sensory impairment	10397	NDRG1	OMIM:601455
HP:0002936	Distal sensory impairment	56652	TWNK	OMIM:607459
HP:0002936	Distal sensory impairment	56652	TWNK	ORPHA:70595
HP:0002936	Distal sensory impairment	55703	POLR3B	OMIM:619742
HP:0002936	Distal sensory impairment	547	KIF1A	OMIM:614213
HP:0002936	Distal sensory impairment	22880	MORC2	OMIM:616688
HP:0002936	Distal sensory impairment	7515	XRCC1	OMIM:617633
HP:0002936	Distal sensory impairment	55775	TDP1	OMIM:607250
HP:0002936	Distal sensory impairment	55775	TDP1	ORPHA:94124
HP:0002936	Distal sensory impairment	54332	GDAP1	ORPHA:99948
HP:0002936	Distal sensory impairment	54332	GDAP1	ORPHA:101097
HP:0002936	Distal sensory impairment	55157	DARS2	ORPHA:137898
HP:0002936	Distal sensory impairment	5173	PDYN	OMIM:610245
HP:0002936	Distal sensory impairment	26580	BSCL2	OMIM:270685
HP:0002936	Distal sensory impairment	11128	POLR3A	ORPHA:447896
HP:0002936	Distal sensory impairment	7879	RAB7A	OMIM:600882
HP:0002936	Distal sensory impairment	51816	ADA2	OMIM:182410
HP:0002936	Distal sensory impairment	87178	PNPT1	ORPHA:101111
HP:0002936	Distal sensory impairment	55958	KLHL9	ORPHA:399081
HP:0002936	Distal sensory impairment	4358	MPV17	OMIM:618400
HP:0002936	Distal sensory impairment	91574	MTRFR	OMIM:615035
HP:0002936	Distal sensory impairment	7415	VCP	OMIM:616687
HP:0002936	Distal sensory impairment	50717	DCAF8	OMIM:610100
HP:0002936	Distal sensory impairment	3035	HARS1	ORPHA:488333
HP:0002936	Distal sensory impairment	50846	DHH	OMIM:607080
HP:0002936	Distal sensory impairment	23064	SETX	OMIM:606002
HP:0002936	Distal sensory impairment	6310	ATXN1	OMIM:164400
HP:0002936	Distal sensory impairment	25923	ATL3	ORPHA:36386
HP:0002936	Distal sensory impairment	9517	SPTLC2	ORPHA:36386
HP:0002936	Distal sensory impairment	51062	ATL1	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	23646	PLD3	OMIM:617770
HP:0003477	Peripheral axonal neuropathy	4744	NEFH	OMIM:616924
HP:0003477	Peripheral axonal neuropathy	2259	FGF14	ORPHA:98764
HP:0003477	Peripheral axonal neuropathy	57165	GJC2	OMIM:608804
HP:0003477	Peripheral axonal neuropathy	7084	TK2	ORPHA:254886
HP:0003477	Peripheral axonal neuropathy	3074	HEXB	ORPHA:309169
HP:0003477	Peripheral axonal neuropathy	6472	SHMT2	OMIM:619121
HP:0003477	Peripheral axonal neuropathy	63895	PIEZO2	OMIM:617146
HP:0003477	Peripheral axonal neuropathy	219285	SAMD9L	OMIM:619806
HP:0003477	Peripheral axonal neuropathy	51	ACOX1	OMIM:618960
HP:0003477	Peripheral axonal neuropathy	116228	COX20	OMIM:619054
HP:0003477	Peripheral axonal neuropathy	7518	XRCC4	OMIM:616541
HP:0003477	Peripheral axonal neuropathy	1509	CTSD	OMIM:610127
HP:0003477	Peripheral axonal neuropathy	823	CAPN1	OMIM:616907
HP:0003477	Peripheral axonal neuropathy	8449	DHX16	OMIM:618733
HP:0003477	Peripheral axonal neuropathy	144165	PRICKLE1	OMIM:612437
HP:0003477	Peripheral axonal neuropathy	2395	FXN	ORPHA:95
HP:0003477	Peripheral axonal neuropathy	291	SLC25A4	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	5428	POLG	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	5428	POLG	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	5428	POLG	OMIM:607459
HP:0003477	Peripheral axonal neuropathy	56652	TWNK	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	56652	TWNK	OMIM:607459
HP:0003477	Peripheral axonal neuropathy	11232	POLG2	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	11232	POLG2	OMIM:619425
HP:0003477	Peripheral axonal neuropathy	50484	RRM2B	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	50484	RRM2B	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	9488	PIGB	OMIM:618580
HP:0003477	Peripheral axonal neuropathy	4141	MARS1	OMIM:616280
HP:0003477	Peripheral axonal neuropathy	4558	MT-TF	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4572	MT-TQ	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4512	MT-CO1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4513	MT-CO2	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4514	MT-CO3	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4578	MT-TW	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4540	MT-ND5	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4541	MT-ND6	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4535	MT-ND1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4538	MT-ND4	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4567	MT-TL1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4574	MT-TS1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4575	MT-TS2	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4564	MT-TH	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	23769	FLRT1	ORPHA:320406
HP:0003477	Peripheral axonal neuropathy	64837	KLC2	ORPHA:320406
HP:0003477	Peripheral axonal neuropathy	91574	MTRFR	ORPHA:254930
HP:0003477	Peripheral axonal neuropathy	91574	MTRFR	OMIM:615035
HP:0003477	Peripheral axonal neuropathy	1161	ERCC8	ORPHA:90324
HP:0003477	Peripheral axonal neuropathy	2074	ERCC6	ORPHA:90324
HP:0003477	Peripheral axonal neuropathy	80821	DDHD1	OMIM:609340
HP:0003477	Peripheral axonal neuropathy	50717	DCAF8	OMIM:610100
HP:0003477	Peripheral axonal neuropathy	57704	GBA2	ORPHA:352641
HP:0003477	Peripheral axonal neuropathy	57704	GBA2	ORPHA:320391
HP:0003477	Peripheral axonal neuropathy	673	BRAF	OMIM:115150
HP:0003477	Peripheral axonal neuropathy	19	ABCA1	OMIM:205400
HP:0003477	Peripheral axonal neuropathy	19	ABCA1	ORPHA:31150
HP:0003477	Peripheral axonal neuropathy	4508	MT-ATP6	ORPHA:320360
HP:0003477	Peripheral axonal neuropathy	4747	NEFL	ORPHA:99939
HP:0003477	Peripheral axonal neuropathy	5361	PLXNA1	OMIM:619955
HP:0003477	Peripheral axonal neuropathy	23345	SYNE1	OMIM:610743
HP:0003477	Peripheral axonal neuropathy	10516	FBLN5	OMIM:608895
HP:0003477	Peripheral axonal neuropathy	274	BIN1	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	64419	MTMR14	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	4618	MYF6	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	1785	DNM2	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	6261	RYR1	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	59341	TRPV4	OMIM:156530
HP:0003477	Peripheral axonal neuropathy	200205	IBA57	ORPHA:468661
HP:0003477	Peripheral axonal neuropathy	200205	IBA57	OMIM:616451
HP:0003477	Peripheral axonal neuropathy	55187	VPS13D	OMIM:607317
HP:0003477	Peripheral axonal neuropathy	81790	RNF170	OMIM:619686
HP:0003477	Peripheral axonal neuropathy	478	ATP1A3	OMIM:601338
HP:0003477	Peripheral axonal neuropathy	55182	RNF220	OMIM:619688
HP:0003477	Peripheral axonal neuropathy	6905	TBCE	ORPHA:496756
HP:0003477	Peripheral axonal neuropathy	6905	TBCE	OMIM:617207
HP:0003477	Peripheral axonal neuropathy	547	KIF1A	OMIM:610357
HP:0003477	Peripheral axonal neuropathy	547	KIF1A	OMIM:614255
HP:0003477	Peripheral axonal neuropathy	10908	PNPLA6	OMIM:275400
HP:0003477	Peripheral axonal neuropathy	5660	PSAP	OMIM:611722
HP:0003477	Peripheral axonal neuropathy	271	AMPD2	OMIM:615809
HP:0003477	Peripheral axonal neuropathy	3767	KCNJ11	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	6774	STAT3	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	2645	GCK	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	3651	PDX1	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	6833	ABCC8	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	3630	INS	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	1890	TYMP	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	3980	LIG3	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	8888	MCM3AP	OMIM:618124
HP:0003477	Peripheral axonal neuropathy	23250	ATP11A	OMIM:619851
HP:0003477	Peripheral axonal neuropathy	23321	TRIM2	OMIM:615490
HP:0003477	Peripheral axonal neuropathy	4358	MPV17	OMIM:618400
HP:0003477	Peripheral axonal neuropathy	10381	TUBB3	OMIM:600638
HP:0003477	Peripheral axonal neuropathy	215	ABCD1	ORPHA:139396
HP:0003477	Peripheral axonal neuropathy	79628	SH3TC2	OMIM:613353
HP:0003477	Peripheral axonal neuropathy	1778	DYNC1H1	OMIM:614563
HP:0003477	Peripheral axonal neuropathy	55157	DARS2	ORPHA:137898
HP:0003477	Peripheral axonal neuropathy	55157	DARS2	OMIM:611105
HP:0003477	Peripheral axonal neuropathy	91137	SLC25A46	OMIM:616505
HP:0003477	Peripheral axonal neuropathy	91137	SLC25A46	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	54463	RETREG1	OMIM:613115
HP:0003477	Peripheral axonal neuropathy	51008	ASCC1	OMIM:616867
HP:0003477	Peripheral axonal neuropathy	9325	TRIP4	OMIM:616866
HP:0003477	Peripheral axonal neuropathy	8398	PLA2G6	ORPHA:35069
HP:0003477	Peripheral axonal neuropathy	5351	PLOD1	ORPHA:1900
HP:0003477	Peripheral axonal neuropathy	10939	AFG3L2	ORPHA:313772
HP:0003477	Peripheral axonal neuropathy	7276	TTR	OMIM:105210
HP:0003477	Peripheral axonal neuropathy	2632	GBE1	OMIM:263570
HP:0003477	Peripheral axonal neuropathy	10367	MICU1	ORPHA:401768
HP:0003477	Peripheral axonal neuropathy	10367	MICU1	OMIM:615673
HP:0003477	Peripheral axonal neuropathy	23400	ATP13A2	ORPHA:513436
HP:0003477	Peripheral axonal neuropathy	23400	ATP13A2	OMIM:617225
HP:0003477	Peripheral axonal neuropathy	2064	ERBB2	OMIM:619465
HP:0003477	Peripheral axonal neuropathy	80208	SPG11	ORPHA:2822
HP:0003477	Peripheral axonal neuropathy	80208	SPG11	OMIM:616668
HP:0003477	Peripheral axonal neuropathy	55775	TDP1	OMIM:607250
HP:0003477	Peripheral axonal neuropathy	23230	VPS13A	ORPHA:2388
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	OMIM:618810
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	ORPHA:496790
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	OMIM:617183
HP:0003477	Peripheral axonal neuropathy	2783	GNB2	OMIM:619503
HP:0003477	Peripheral axonal neuropathy	4359	MPZ	ORPHA:101082
HP:0003477	Peripheral axonal neuropathy	3475	IFRD1	ORPHA:98771
HP:0003477	Peripheral axonal neuropathy	3735	KARS1	OMIM:619196
HP:0003477	Peripheral axonal neuropathy	113612	CYP2U1	OMIM:615030
HP:0003477	Peripheral axonal neuropathy	113612	CYP2U1	ORPHA:320411
HP:0003477	Peripheral axonal neuropathy	65260	COA7	OMIM:618387
HP:0003477	Peripheral axonal neuropathy	7415	VCP	ORPHA:435387
HP:0003477	Peripheral axonal neuropathy	3845	KRAS	OMIM:615278
HP:0003477	Peripheral axonal neuropathy	11340	EXOSC8	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	5393	EXOSC9	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	23287	AGTPBP1	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	51010	EXOSC3	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	7443	VRK1	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	4287	ATXN3	ORPHA:276244
HP:0003477	Peripheral axonal neuropathy	60481	ELOVL5	OMIM:615957
HP:0003477	Peripheral axonal neuropathy	7345	UCHL1	OMIM:620221
HP:0003477	Peripheral axonal neuropathy	23503	ZFYVE26	OMIM:270700
HP:0003477	Peripheral axonal neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0003477	Peripheral axonal neuropathy	4311	MME	ORPHA:497764
HP:0003477	Peripheral axonal neuropathy	3766	KCNJ10	ORPHA:199343
HP:0003477	Peripheral axonal neuropathy	55958	KLHL9	ORPHA:399081
HP:0003477	Peripheral axonal neuropathy	23095	KIF1B	OMIM:118210
HP:0003477	Peripheral axonal neuropathy	6785	ELOVL4	OMIM:133190
HP:0003477	Peripheral axonal neuropathy	51062	ATL1	OMIM:613708
HP:0003477	Peripheral axonal neuropathy	80347	COASY	ORPHA:397725
HP:0003477	Peripheral axonal neuropathy	22880	MORC2	OMIM:619090
HP:0003477	Peripheral axonal neuropathy	1716	DGUOK	OMIM:617070
HP:0003477	Peripheral axonal neuropathy	9147	NEMF	OMIM:619099
HP:0003477	Peripheral axonal neuropathy	2733	GLE1	OMIM:611890
HP:0003477	Peripheral axonal neuropathy	60386	SLC25A19	OMIM:613710
HP:0003477	Peripheral axonal neuropathy	23533	PIK3R5	OMIM:615217
HP:0003477	Peripheral axonal neuropathy	57731	SPTBN4	OMIM:617519
HP:0003477	Peripheral axonal neuropathy	5832	ALDH18A1	ORPHA:447757
HP:0003477	Peripheral axonal neuropathy	4556	MT-TE	ORPHA:2596
HP:0003477	Peripheral axonal neuropathy	710	SERPING1	OMIM:106100
HP:0003477	Peripheral axonal neuropathy	26353	HSPB8	OMIM:608673
HP:0003477	Peripheral axonal neuropathy	4668	NAGA	OMIM:609242
HP:0003477	Peripheral axonal neuropathy	3098	HK1	ORPHA:99953
HP:0003477	Peripheral axonal neuropathy	5631	PRPS1	OMIM:300661
HP:0003477	Peripheral axonal neuropathy	3798	KIF5A	ORPHA:100991
HP:0003477	Peripheral axonal neuropathy	9927	MFN2	OMIM:617087
HP:0003477	Peripheral axonal neuropathy	27072	VPS41	OMIM:619389
HP:0003477	Peripheral axonal neuropathy	7466	WFS1	ORPHA:411590
HP:0003477	Peripheral axonal neuropathy	22948	CCT5	OMIM:256840
HP:0003477	Peripheral axonal neuropathy	16	AARS1	OMIM:613287
HP:0003477	Peripheral axonal neuropathy	23064	SETX	OMIM:606002
HP:0003477	Peripheral axonal neuropathy	3315	HSPB1	ORPHA:99940
HP:0003477	Peripheral axonal neuropathy	65055	REEP1	OMIM:620011
HP:0003477	Peripheral axonal neuropathy	9990	SLC12A6	OMIM:218000
HP:0003477	Peripheral axonal neuropathy	6904	TBCD	ORPHA:496641
HP:0003477	Peripheral axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0003477	Peripheral axonal neuropathy	9150	CTDP1	ORPHA:48431
HP:0003477	Peripheral axonal neuropathy	64856	VWA1	OMIM:619216
HP:0003477	Peripheral axonal neuropathy	3839	KPNA3	OMIM:620106
HP:0003477	Peripheral axonal neuropathy	29926	GMPPA	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	60684	TRAPPC11	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	8086	AAAS	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	8086	AAAS	OMIM:231550
HP:0003477	Peripheral axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0003477	Peripheral axonal neuropathy	8139	GAN	OMIM:256850
HP:0003477	Peripheral axonal neuropathy	57599	WDR48	ORPHA:401800
HP:0003477	Peripheral axonal neuropathy	6687	SPG7	ORPHA:35689
HP:0003477	Peripheral axonal neuropathy	7504	XK	OMIM:300842
HP:0003477	Peripheral axonal neuropathy	83636	C19orf12	OMIM:614298
HP:0003477	Peripheral axonal neuropathy	51305	KCNK9	ORPHA:166108
HP:0003477	Peripheral axonal neuropathy	7453	WARS1	OMIM:617721
HP:0003477	Peripheral axonal neuropathy	5192	PEX10	OMIM:614871
HP:0003477	Peripheral axonal neuropathy	5192	PEX10	ORPHA:247815
HP:0003477	Peripheral axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0003477	Peripheral axonal neuropathy	3035	HARS1	ORPHA:488333
HP:0003477	Peripheral axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0003477	Peripheral axonal neuropathy	3145	HMBS	ORPHA:79276
HP:0003477	Peripheral axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0003477	Peripheral axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0003477	Peripheral axonal neuropathy	4976	OPA1	ORPHA:1215
HP:0003477	Peripheral axonal neuropathy	10558	SPTLC1	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	25923	ATL3	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	9517	SPTLC2	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	84342	COG8	ORPHA:95428
HP:0003477	Peripheral axonal neuropathy	54332	GDAP1	ORPHA:99948
HP:0003477	Peripheral axonal neuropathy	54332	GDAP1	ORPHA:101097
HP:0001291	Abnormal cranial nerve morphology	5396	PRRX1	ORPHA:990
HP:0001291	Abnormal cranial nerve morphology	5015	OTX2	ORPHA:990
HP:0001291	Abnormal cranial nerve morphology	55315	SLC29A3	ORPHA:1782
HP:0001291	Abnormal cranial nerve morphology	2248	FGF3	ORPHA:90024
HP:0001291	Abnormal cranial nerve morphology	2776	GNAQ	ORPHA:624
HP:0001291	Abnormal cranial nerve morphology	9573	GDF3	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	392255	GDF6	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	4222	MEOX1	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	1959	EGR2	OMIM:605253
HP:0001291	Abnormal cranial nerve morphology	4221	MEN1	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1027	CDKN1B	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1026	CDKN1A	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1030	CDKN2B	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1031	CDKN2C	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	7428	VHL	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	7428	VHL	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	1743	DLST	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	4191	MDH2	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	5979	RET	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	5979	RET	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	6389	SDHA	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	2271	FH	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	8402	SLC25A11	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	54949	SDHAF2	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	55654	TMEM127	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	4763	NF1	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6391	SDHC	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6392	SDHD	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6392	SDHD	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	6390	SDHB	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6390	SDHB	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	4149	MAX	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	1788	DNMT3A	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	2034	EPAS1	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	760	CA2	ORPHA:2785
HP:0001291	Abnormal cranial nerve morphology	3178	HNRNPA1	ORPHA:52430
HP:0001291	Abnormal cranial nerve morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001291	Abnormal cranial nerve morphology	4359	MPZ	OMIM:618184
HP:0001291	Abnormal cranial nerve morphology	8506	CNTNAP1	OMIM:618186
HP:0001291	Abnormal cranial nerve morphology	8506	CNTNAP1	OMIM:616286
HP:0001291	Abnormal cranial nerve morphology	112	ADCY6	OMIM:616287
HP:0001291	Abnormal cranial nerve morphology	2733	GLE1	OMIM:611890
HP:0001291	Abnormal cranial nerve morphology	1410	CRYAB	ORPHA:399058
HP:0001291	Abnormal cranial nerve morphology	19	ABCA1	OMIM:205400
HP:0001291	Abnormal cranial nerve morphology	19	ABCA1	ORPHA:31150
HP:0001291	Abnormal cranial nerve morphology	9997	SCO2	ORPHA:521411
HP:0001291	Abnormal cranial nerve morphology	9289	ADGRG1	ORPHA:98889
HP:0001291	Abnormal cranial nerve morphology	5297	PI4KA	ORPHA:98889
HP:0001291	Abnormal cranial nerve morphology	27286	SRPX2	ORPHA:98889
HP:0001291	Abnormal cranial nerve morphology	8803	SUCLA2	OMIM:612073
HP:0001291	Abnormal cranial nerve morphology	6472	SHMT2	OMIM:619121
HP:0001291	Abnormal cranial nerve morphology	10730	YME1L1	OMIM:617302
HP:0001291	Abnormal cranial nerve morphology	2218	FKTN	ORPHA:370980
HP:0001291	Abnormal cranial nerve morphology	729920	CRPPA	ORPHA:370980
HP:0001291	Abnormal cranial nerve morphology	1760	DMPK	OMIM:160900
HP:0001291	Abnormal cranial nerve morphology	9990	SLC12A6	OMIM:218000
HP:0001291	Abnormal cranial nerve morphology	4649	MYO9A	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	1103	CHAT	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	6576	SLC25A1	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	6843	VAMP1	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	127833	SYT2	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	6572	SLC18A3	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	6616	SNAP25	ORPHA:98914
HP:0001291	Abnormal cranial nerve morphology	84570	COL25A1	ORPHA:91411
HP:0001291	Abnormal cranial nerve morphology	79776	ZFHX4	ORPHA:91411
HP:0001291	Abnormal cranial nerve morphology	10312	TCIRG1	OMIM:259700
HP:0001291	Abnormal cranial nerve morphology	79628	SH3TC2	ORPHA:99949
HP:0001291	Abnormal cranial nerve morphology	27247	NFU1	OMIM:605711
HP:0001291	Abnormal cranial nerve morphology	1282	COL4A1	OMIM:175780
HP:0001291	Abnormal cranial nerve morphology	91574	MTRFR	OMIM:613559
HP:0001291	Abnormal cranial nerve morphology	1186	CLCN7	OMIM:166600
HP:0001291	Abnormal cranial nerve morphology	773	CACNA1A	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	112476	PRRT2	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	6323	SCN1A	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	477	ATP1A2	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	8600	TNFSF11	OMIM:259710
HP:0001291	Abnormal cranial nerve morphology	79639	TMEM53	OMIM:619727
HP:0001291	Abnormal cranial nerve morphology	8792	TNFRSF11A	OMIM:612301
HP:0001291	Abnormal cranial nerve morphology	84196	USP48	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	7157	TP53	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	9101	USP8	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	64072	CDH23	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	2908	NR3C1	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	673	BRAF	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	546	ATRX	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	9842	PLEKHM1	ORPHA:210110
HP:0001291	Abnormal cranial nerve morphology	3735	KARS1	OMIM:613641
HP:0001291	Abnormal cranial nerve morphology	161742	SPRED1	ORPHA:137605
HP:0001291	Abnormal cranial nerve morphology	3265	HRAS	OMIM:218040
HP:0001291	Abnormal cranial nerve morphology	1690	COCH	OMIM:601369
HP:0001291	Abnormal cranial nerve morphology	5621	PRNP	ORPHA:282166
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	ORPHA:97240
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	ORPHA:171433
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	ORPHA:171430
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	OMIM:616852
HP:0001291	Abnormal cranial nerve morphology	58	ACTA1	OMIM:161800
HP:0001291	Abnormal cranial nerve morphology	50964	SOST	OMIM:269500
HP:0001291	Abnormal cranial nerve morphology	50964	SOST	ORPHA:3416
HP:0001291	Abnormal cranial nerve morphology	50964	SOST	ORPHA:3152
HP:0001291	Abnormal cranial nerve morphology	274	BIN1	ORPHA:169186
HP:0001291	Abnormal cranial nerve morphology	274	BIN1	OMIM:255200
HP:0001291	Abnormal cranial nerve morphology	10290	SPEG	ORPHA:169186
HP:0001291	Abnormal cranial nerve morphology	6261	RYR1	ORPHA:169186
HP:0001291	Abnormal cranial nerve morphology	6261	RYR1	OMIM:255320
HP:0001291	Abnormal cranial nerve morphology	6261	RYR1	ORPHA:178145
HP:0001291	Abnormal cranial nerve morphology	6261	RYR1	ORPHA:98905
HP:0001291	Abnormal cranial nerve morphology	7273	TTN	ORPHA:169186
HP:0001291	Abnormal cranial nerve morphology	291	SLC25A4	ORPHA:254892
HP:0001291	Abnormal cranial nerve morphology	291	SLC25A4	OMIM:609283
HP:0001291	Abnormal cranial nerve morphology	5428	POLG	ORPHA:254892
HP:0001291	Abnormal cranial nerve morphology	5428	POLG	OMIM:258450
HP:0001291	Abnormal cranial nerve morphology	5428	POLG	ORPHA:254886
HP:0001291	Abnormal cranial nerve morphology	5428	POLG	OMIM:157640
HP:0001291	Abnormal cranial nerve morphology	56652	TWNK	ORPHA:254892
HP:0001291	Abnormal cranial nerve morphology	11232	POLG2	ORPHA:254892
HP:0001291	Abnormal cranial nerve morphology	11232	POLG2	OMIM:610131
HP:0001291	Abnormal cranial nerve morphology	50484	RRM2B	ORPHA:254892
HP:0001291	Abnormal cranial nerve morphology	22827	PUF60	ORPHA:508498
HP:0001291	Abnormal cranial nerve morphology	55906	ZC4H2	OMIM:301041
HP:0001291	Abnormal cranial nerve morphology	55906	ZC4H2	OMIM:314580
HP:0001291	Abnormal cranial nerve morphology	2673	GFPT1	OMIM:608931
HP:0001291	Abnormal cranial nerve morphology	2673	GFPT1	ORPHA:353327
HP:0001291	Abnormal cranial nerve morphology	2673	GFPT1	OMIM:610542
HP:0001291	Abnormal cranial nerve morphology	1145	CHRNE	OMIM:608931
HP:0001291	Abnormal cranial nerve morphology	1145	CHRNE	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	1291	COL6A1	OMIM:254090
HP:0001291	Abnormal cranial nerve morphology	1292	COL6A2	OMIM:254090
HP:0001291	Abnormal cranial nerve morphology	1292	COL6A2	OMIM:255600
HP:0001291	Abnormal cranial nerve morphology	1293	COL6A3	OMIM:254090
HP:0001291	Abnormal cranial nerve morphology	1144	CHRND	OMIM:616322
HP:0001291	Abnormal cranial nerve morphology	1144	CHRND	OMIM:616323
HP:0001291	Abnormal cranial nerve morphology	1144	CHRND	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	2138	EYA1	OMIM:113650
HP:0001291	Abnormal cranial nerve morphology	2138	EYA1	ORPHA:107
HP:0001291	Abnormal cranial nerve morphology	2138	EYA1	ORPHA:52429
HP:0001291	Abnormal cranial nerve morphology	6495	SIX1	OMIM:113650
HP:0001291	Abnormal cranial nerve morphology	6495	SIX1	ORPHA:107
HP:0001291	Abnormal cranial nerve morphology	6495	SIX1	ORPHA:52429
HP:0001291	Abnormal cranial nerve morphology	56203	LMOD3	OMIM:616165
HP:0001291	Abnormal cranial nerve morphology	56203	LMOD3	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	56203	LMOD3	ORPHA:171430
HP:0001291	Abnormal cranial nerve morphology	2697	GJA1	ORPHA:1522
HP:0001291	Abnormal cranial nerve morphology	2697	GJA1	OMIM:218400
HP:0001291	Abnormal cranial nerve morphology	56172	ANKH	ORPHA:1522
HP:0001291	Abnormal cranial nerve morphology	56172	ANKH	OMIM:123000
HP:0001291	Abnormal cranial nerve morphology	4593	MUSK	OMIM:616325
HP:0001291	Abnormal cranial nerve morphology	4593	MUSK	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	1305	COL13A1	OMIM:616720
HP:0001291	Abnormal cranial nerve morphology	1305	COL13A1	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	23394	ADNP	OMIM:615873
HP:0001291	Abnormal cranial nerve morphology	400916	CHCHD10	OMIM:616209
HP:0001291	Abnormal cranial nerve morphology	4038	LRP4	OMIM:614305
HP:0001291	Abnormal cranial nerve morphology	4038	LRP4	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	4038	LRP4	ORPHA:3152
HP:0001291	Abnormal cranial nerve morphology	7415	VCP	OMIM:167320
HP:0001291	Abnormal cranial nerve morphology	1134	CHRNA1	OMIM:608930
HP:0001291	Abnormal cranial nerve morphology	1134	CHRNA1	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	4747	NEFL	OMIM:607684
HP:0001291	Abnormal cranial nerve morphology	825	CAPN3	OMIM:253600
HP:0001291	Abnormal cranial nerve morphology	57167	SALL4	OMIM:607323
HP:0001291	Abnormal cranial nerve morphology	79581	SLC52A2	OMIM:614707
HP:0001291	Abnormal cranial nerve morphology	10049	DNAJB6	OMIM:603511
HP:0001291	Abnormal cranial nerve morphology	1120	CHKB	OMIM:602541
HP:0001291	Abnormal cranial nerve morphology	57165	GJC2	OMIM:608804
HP:0001291	Abnormal cranial nerve morphology	29887	SNX10	OMIM:615085
HP:0001291	Abnormal cranial nerve morphology	7169	TPM2	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	7169	TPM2	ORPHA:171881
HP:0001291	Abnormal cranial nerve morphology	4703	NEB	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	4703	NEB	ORPHA:171433
HP:0001291	Abnormal cranial nerve morphology	4703	NEB	ORPHA:171430
HP:0001291	Abnormal cranial nerve morphology	10324	KLHL41	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	10324	KLHL41	ORPHA:171433
HP:0001291	Abnormal cranial nerve morphology	10324	KLHL41	ORPHA:171430
HP:0001291	Abnormal cranial nerve morphology	1073	CFL2	ORPHA:171436
HP:0001291	Abnormal cranial nerve morphology	60482	SLC5A7	OMIM:617143
HP:0001291	Abnormal cranial nerve morphology	7084	TK2	ORPHA:254886
HP:0001291	Abnormal cranial nerve morphology	92667	MGME1	OMIM:615084
HP:0001291	Abnormal cranial nerve morphology	7170	TPM3	ORPHA:171433
HP:0001291	Abnormal cranial nerve morphology	7170	TPM3	ORPHA:171881
HP:0001291	Abnormal cranial nerve morphology	7170	TPM3	OMIM:255310
HP:0001291	Abnormal cranial nerve morphology	29998	BICRA	OMIM:619325
HP:0001291	Abnormal cranial nerve morphology	131377	KLHL40	ORPHA:171430
HP:0001291	Abnormal cranial nerve morphology	131377	KLHL40	OMIM:615348
HP:0001291	Abnormal cranial nerve morphology	9790	BMS1	ORPHA:1114
HP:0001291	Abnormal cranial nerve morphology	5339	PLEC	ORPHA:1114
HP:0001291	Abnormal cranial nerve morphology	10054	UBA2	ORPHA:1114
HP:0001291	Abnormal cranial nerve morphology	3691	ITGB4	ORPHA:1114
HP:0001291	Abnormal cranial nerve morphology	54567	DLL4	ORPHA:1114
HP:0001291	Abnormal cranial nerve morphology	4041	LRP5	ORPHA:3416
HP:0001291	Abnormal cranial nerve morphology	4041	LRP5	ORPHA:2790
HP:0001291	Abnormal cranial nerve morphology	4041	LRP5	ORPHA:178377
HP:0001291	Abnormal cranial nerve morphology	84466	MEGF10	OMIM:614399
HP:0001291	Abnormal cranial nerve morphology	55636	CHD7	ORPHA:138
HP:0001291	Abnormal cranial nerve morphology	55636	CHD7	OMIM:214800
HP:0001291	Abnormal cranial nerve morphology	9723	SEMA3E	ORPHA:138
HP:0001291	Abnormal cranial nerve morphology	3908	LAMA2	ORPHA:258
HP:0001291	Abnormal cranial nerve morphology	4625	MYH7	OMIM:160500
HP:0001291	Abnormal cranial nerve morphology	4625	MYH7	ORPHA:437572
HP:0001291	Abnormal cranial nerve morphology	389827	MYMK	ORPHA:1358
HP:0001291	Abnormal cranial nerve morphology	389827	MYMK	OMIM:254940
HP:0001291	Abnormal cranial nerve morphology	101929726	MYMX	ORPHA:1358
HP:0001291	Abnormal cranial nerve morphology	29925	GMPPB	ORPHA:353327
HP:0001291	Abnormal cranial nerve morphology	29925	GMPPB	ORPHA:370968
HP:0001291	Abnormal cranial nerve morphology	1798	DPAGT1	ORPHA:353327
HP:0001291	Abnormal cranial nerve morphology	85365	ALG2	ORPHA:353327
HP:0001291	Abnormal cranial nerve morphology	199857	ALG14	ORPHA:353327
HP:0001291	Abnormal cranial nerve morphology	427	ASAH1	OMIM:159950
HP:0001291	Abnormal cranial nerve morphology	79147	FKRP	ORPHA:370968
HP:0001291	Abnormal cranial nerve morphology	79147	FKRP	OMIM:606612
HP:0001291	Abnormal cranial nerve morphology	29954	POMT2	ORPHA:370968
HP:0001291	Abnormal cranial nerve morphology	29954	POMT2	OMIM:613156
HP:0001291	Abnormal cranial nerve morphology	9215	LARGE1	ORPHA:370968
HP:0001291	Abnormal cranial nerve morphology	9215	LARGE1	OMIM:608840
HP:0001291	Abnormal cranial nerve morphology	10585	POMT1	ORPHA:370968
HP:0001291	Abnormal cranial nerve morphology	10585	POMT1	OMIM:613155
HP:0001291	Abnormal cranial nerve morphology	57190	SELENON	OMIM:602771
HP:0001291	Abnormal cranial nerve morphology	51816	ADA2	OMIM:182410
HP:0001291	Abnormal cranial nerve morphology	5980	REV3L	ORPHA:570
HP:0001291	Abnormal cranial nerve morphology	23129	PLXND1	ORPHA:570
HP:0001291	Abnormal cranial nerve morphology	10735	STAG2	OMIM:301022
HP:0001291	Abnormal cranial nerve morphology	2483	FRG1	OMIM:158900
HP:0001291	Abnormal cranial nerve morphology	23347	SMCHD1	OMIM:158901
HP:0001291	Abnormal cranial nerve morphology	8878	SQSTM1	OMIM:617158
HP:0001291	Abnormal cranial nerve morphology	84665	MYPN	ORPHA:171881
HP:0001291	Abnormal cranial nerve morphology	84665	MYPN	OMIM:617336
HP:0001291	Abnormal cranial nerve morphology	10381	TUBB3	OMIM:600638
HP:0001291	Abnormal cranial nerve morphology	22954	TRIM32	OMIM:254110
HP:0001291	Abnormal cranial nerve morphology	56244	BTNL2	OMIM:612387
HP:0001291	Abnormal cranial nerve morphology	56244	BTNL2	ORPHA:797
HP:0001291	Abnormal cranial nerve morphology	29967	LRP12	OMIM:164310
HP:0001291	Abnormal cranial nerve morphology	10020	GNE	ORPHA:602
HP:0001291	Abnormal cranial nerve morphology	7020	TFAP2A	OMIM:113620
HP:0001291	Abnormal cranial nerve morphology	51651	PTRH2	ORPHA:456312
HP:0001291	Abnormal cranial nerve morphology	1303	COL12A1	OMIM:616470
HP:0001291	Abnormal cranial nerve morphology	7317	UBA1	OMIM:301830
HP:0001291	Abnormal cranial nerve morphology	390594	KBTBD13	OMIM:609273
HP:0001291	Abnormal cranial nerve morphology	139285	AMER1	ORPHA:2780
HP:0001291	Abnormal cranial nerve morphology	139285	AMER1	OMIM:300373
HP:0001291	Abnormal cranial nerve morphology	9531	BAG3	OMIM:612954
HP:0001291	Abnormal cranial nerve morphology	9244	CRLF1	OMIM:272430
HP:0001291	Abnormal cranial nerve morphology	113278	SLC52A3	OMIM:211530
HP:0001291	Abnormal cranial nerve morphology	3123	HLA-DRB1	ORPHA:797
HP:0001291	Abnormal cranial nerve morphology	84617	TUBB6	OMIM:617732
HP:0001291	Abnormal cranial nerve morphology	9791	PTDSS1	ORPHA:2658
HP:0001291	Abnormal cranial nerve morphology	8314	BAP1	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	4771	NF2	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	4771	NF2	ORPHA:637
HP:0001291	Abnormal cranial nerve morphology	6598	SMARCB1	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	5155	PDGFB	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	84231	TRAF7	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	6608	SMO	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	207	AKT1	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	5290	PIK3CA	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	7015	TERT	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	51684	SUFU	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	6605	SMARCE1	ORPHA:2495
HP:0001291	Abnormal cranial nerve morphology	3211	HOXB1	OMIM:614744
HP:0001291	Abnormal cranial nerve morphology	4534	MTM1	OMIM:310400
HP:0001291	Abnormal cranial nerve morphology	7040	TGFB1	ORPHA:1328
HP:0001291	Abnormal cranial nerve morphology	8085	KMT2D	OMIM:620186
HP:0001291	Abnormal cranial nerve morphology	80704	SLC19A3	OMIM:607483
HP:0001291	Abnormal cranial nerve morphology	147912	SIX5	ORPHA:107
HP:0001291	Abnormal cranial nerve morphology	8898	MTMR2	OMIM:601382
HP:0001291	Abnormal cranial nerve morphology	1785	DNM2	OMIM:160150
HP:0001291	Abnormal cranial nerve morphology	64419	MTMR14	OMIM:160150
HP:0001291	Abnormal cranial nerve morphology	2934	GSN	ORPHA:85448
HP:0001291	Abnormal cranial nerve morphology	23095	KIF1B	OMIM:118210
HP:0001291	Abnormal cranial nerve morphology	1674	DES	OMIM:601419
HP:0001291	Abnormal cranial nerve morphology	8292	COLQ	ORPHA:98915
HP:0001291	Abnormal cranial nerve morphology	3913	LAMB2	ORPHA:98915
HP:0001291	Abnormal cranial nerve morphology	6444	SGCD	ORPHA:219
HP:0001291	Abnormal cranial nerve morphology	23516	SLC39A14	OMIM:144755
HP:0001291	Abnormal cranial nerve morphology	8106	PABPN1	OMIM:164300
HP:0001291	Abnormal cranial nerve morphology	6329	SCN4A	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	1140	CHRNB1	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	1140	CHRNB1	OMIM:616313
HP:0001291	Abnormal cranial nerve morphology	5913	RAPSN	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	375790	AGRN	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	221264	AK9	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	285489	DOK7	ORPHA:98913
HP:0001291	Abnormal cranial nerve morphology	55670	PEX26	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5824	PEX19	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5828	PEX2	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	8504	PEX3	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	9409	PEX16	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5190	PEX6	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	8799	PEX11B	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5830	PEX5	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5189	PEX1	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5193	PEX12	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5194	PEX13	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5195	PEX14	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	5192	PEX10	ORPHA:772
HP:0001291	Abnormal cranial nerve morphology	339855	KY	OMIM:617114
HP:0001291	Abnormal cranial nerve morphology	84168	ANTXR1	OMIM:230740
HP:0001291	Abnormal cranial nerve morphology	57731	SPTBN4	OMIM:617519
HP:0001291	Abnormal cranial nerve morphology	64127	NOD2	ORPHA:90340
HP:0001291	Abnormal cranial nerve morphology	8139	GAN	ORPHA:643
HP:0001291	Abnormal cranial nerve morphology	8139	GAN	OMIM:256850
HP:0001291	Abnormal cranial nerve morphology	28962	OSTM1	OMIM:259720
HP:0001291	Abnormal cranial nerve morphology	4633	MYL2	OMIM:619424
HP:0001291	Abnormal cranial nerve morphology	29089	UBE2T	OMIM:616435
HP:0001291	Abnormal cranial nerve morphology	203859	ANO5	OMIM:611307
HP:0001291	Abnormal cranial nerve morphology	203859	ANO5	ORPHA:206549
HP:0001291	Abnormal cranial nerve morphology	1861	TOR1A	OMIM:128100
HP:0001291	Abnormal cranial nerve morphology	59341	TRPV4	OMIM:181405
HP:0001291	Abnormal cranial nerve morphology	22943	DKK1	ORPHA:268882
HP:0001291	Abnormal cranial nerve morphology	10342	TFG	ORPHA:90117
HP:0001291	Abnormal cranial nerve morphology	11198	SUPT16H	OMIM:619480
HP:0001291	Abnormal cranial nerve morphology	7516	XRCC2	OMIM:617247
HP:0001291	Abnormal cranial nerve morphology	3098	HK1	OMIM:618547
HP:0001291	Abnormal cranial nerve morphology	23345	SYNE1	ORPHA:319332
HP:0003482	EMG: axonal abnormality	80208	SPG11	ORPHA:2822
HP:0003482	EMG: axonal abnormality	5165	PDK3	ORPHA:352675
HP:0003482	EMG: axonal abnormality	1593	CYP27A1	OMIM:213700
HP:0003482	EMG: axonal abnormality	23400	ATP13A2	ORPHA:513436
HP:0003482	EMG: axonal abnormality	4000	LMNA	ORPHA:98856
HP:0003482	EMG: axonal abnormality	203859	ANO5	ORPHA:206549
HP:0003482	EMG: axonal abnormality	23064	SETX	OMIM:602433
HP:0003482	EMG: axonal abnormality	6445	SGCG	ORPHA:353
HP:0003482	EMG: axonal abnormality	10342	TFG	ORPHA:90117
HP:0003482	EMG: axonal abnormality	10133	OPTN	OMIM:613435
HP:0003482	EMG: axonal abnormality	311	ANXA11	OMIM:619733
HP:0003482	EMG: axonal abnormality	4929	NR4A2	OMIM:619911
HP:0003482	EMG: axonal abnormality	1785	DNM2	OMIM:160150
HP:0003482	EMG: axonal abnormality	64419	MTMR14	OMIM:160150
HP:0003482	EMG: axonal abnormality	10020	GNE	ORPHA:602
HP:0000759	Abnormal peripheral nervous system morphology	79718	TBL1XR1	OMIM:602342
HP:0000759	Abnormal peripheral nervous system morphology	2318	FLNC	OMIM:609524
HP:0000759	Abnormal peripheral nervous system morphology	538	ATP7A	OMIM:300489
HP:0000759	Abnormal peripheral nervous system morphology	79087	ALG12	ORPHA:79324
HP:0000759	Abnormal peripheral nervous system morphology	10801	SEPTIN9	OMIM:162100
HP:0000759	Abnormal peripheral nervous system morphology	2705	GJB1	OMIM:302800
HP:0000759	Abnormal peripheral nervous system morphology	54902	TTC19	OMIM:615157
HP:0000759	Abnormal peripheral nervous system morphology	54840	APTX	OMIM:208920
HP:0000759	Abnormal peripheral nervous system morphology	90678	LRSAM1	OMIM:614436
HP:0000759	Abnormal peripheral nervous system morphology	3815	KIT	OMIM:606764
HP:0000759	Abnormal peripheral nervous system morphology	6711	SPTBN1	OMIM:619475
HP:0000759	Abnormal peripheral nervous system morphology	8314	BAP1	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	5155	PDGFB	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	84231	TRAF7	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	6608	SMO	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	207	AKT1	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	5290	PIK3CA	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	7015	TERT	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	51684	SUFU	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	6605	SMARCE1	ORPHA:2495
HP:0000759	Abnormal peripheral nervous system morphology	4035	LRP1	ORPHA:79100
HP:0000759	Abnormal peripheral nervous system morphology	5396	PRRX1	ORPHA:990
HP:0000759	Abnormal peripheral nervous system morphology	5015	OTX2	ORPHA:990
HP:0000759	Abnormal peripheral nervous system morphology	2697	GJA1	ORPHA:1522
HP:0000759	Abnormal peripheral nervous system morphology	56172	ANKH	ORPHA:1522
HP:0000759	Abnormal peripheral nervous system morphology	55315	SLC29A3	ORPHA:1782
HP:0000759	Abnormal peripheral nervous system morphology	8792	TNFRSF11A	ORPHA:1782
HP:0000759	Abnormal peripheral nervous system morphology	64127	NOD2	ORPHA:90340
HP:0000759	Abnormal peripheral nervous system morphology	64127	NOD2	OMIM:186580
HP:0000759	Abnormal peripheral nervous system morphology	2248	FGF3	ORPHA:90024
HP:0000759	Abnormal peripheral nervous system morphology	2776	GNAQ	ORPHA:624
HP:0000759	Abnormal peripheral nervous system morphology	9573	GDF3	ORPHA:2345
HP:0000759	Abnormal peripheral nervous system morphology	392255	GDF6	ORPHA:2345
HP:0000759	Abnormal peripheral nervous system morphology	4222	MEOX1	ORPHA:2345
HP:0000759	Abnormal peripheral nervous system morphology	1959	EGR2	OMIM:605253
HP:0000759	Abnormal peripheral nervous system morphology	55636	CHD7	ORPHA:138
HP:0000759	Abnormal peripheral nervous system morphology	9723	SEMA3E	ORPHA:138
HP:0000759	Abnormal peripheral nervous system morphology	4221	MEN1	ORPHA:652
HP:0000759	Abnormal peripheral nervous system morphology	1027	CDKN1B	ORPHA:652
HP:0000759	Abnormal peripheral nervous system morphology	1026	CDKN1A	ORPHA:652
HP:0000759	Abnormal peripheral nervous system morphology	1030	CDKN2B	ORPHA:652
HP:0000759	Abnormal peripheral nervous system morphology	1031	CDKN2C	ORPHA:652
HP:0000759	Abnormal peripheral nervous system morphology	7040	TGFB1	OMIM:131300
HP:0000759	Abnormal peripheral nervous system morphology	22943	DKK1	ORPHA:268882
HP:0000759	Abnormal peripheral nervous system morphology	4038	LRP4	OMIM:614305
HP:0000759	Abnormal peripheral nervous system morphology	760	CA2	ORPHA:2785
HP:0000759	Abnormal peripheral nervous system morphology	3178	HNRNPA1	ORPHA:52430
HP:0000759	Abnormal peripheral nervous system morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0000759	Abnormal peripheral nervous system morphology	8600	TNFSF11	OMIM:259710
HP:0000759	Abnormal peripheral nervous system morphology	8506	CNTNAP1	OMIM:618186
HP:0000759	Abnormal peripheral nervous system morphology	8506	CNTNAP1	OMIM:616286
HP:0000759	Abnormal peripheral nervous system morphology	1410	CRYAB	ORPHA:399058
HP:0000759	Abnormal peripheral nervous system morphology	9997	SCO2	ORPHA:521411
HP:0000759	Abnormal peripheral nervous system morphology	9289	ADGRG1	ORPHA:98889
HP:0000759	Abnormal peripheral nervous system morphology	5297	PI4KA	ORPHA:98889
HP:0000759	Abnormal peripheral nervous system morphology	27286	SRPX2	ORPHA:98889
HP:0000759	Abnormal peripheral nervous system morphology	8803	SUCLA2	OMIM:612073
HP:0000759	Abnormal peripheral nervous system morphology	10730	YME1L1	OMIM:617302
HP:0000759	Abnormal peripheral nervous system morphology	2218	FKTN	ORPHA:370980
HP:0000759	Abnormal peripheral nervous system morphology	729920	CRPPA	ORPHA:370980
HP:0000759	Abnormal peripheral nervous system morphology	1760	DMPK	OMIM:160900
HP:0000759	Abnormal peripheral nervous system morphology	6687	SPG7	ORPHA:35689
HP:0000759	Abnormal peripheral nervous system morphology	83636	C19orf12	OMIM:614298
HP:0000759	Abnormal peripheral nervous system morphology	57679	ALS2	OMIM:205100
HP:0000759	Abnormal peripheral nervous system morphology	57679	ALS2	OMIM:607225
HP:0000759	Abnormal peripheral nervous system morphology	9782	MATR3	OMIM:606070
HP:0000759	Abnormal peripheral nervous system morphology	57449	PLEKHG5	OMIM:611067
HP:0000759	Abnormal peripheral nervous system morphology	29110	TBK1	OMIM:616439
HP:0000759	Abnormal peripheral nervous system morphology	29110	TBK1	ORPHA:275872
HP:0000759	Abnormal peripheral nervous system morphology	8878	SQSTM1	OMIM:616437
HP:0000759	Abnormal peripheral nervous system morphology	8878	SQSTM1	ORPHA:275872
HP:0000759	Abnormal peripheral nervous system morphology	54822	TRPM7	OMIM:105500
HP:0000759	Abnormal peripheral nervous system morphology	2521	FUS	ORPHA:275872
HP:0000759	Abnormal peripheral nervous system morphology	23435	TARDBP	ORPHA:275872
HP:0000759	Abnormal peripheral nervous system morphology	400916	CHCHD10	ORPHA:275872
HP:0000759	Abnormal peripheral nervous system morphology	203228	C9orf72	OMIM:105550
HP:0000759	Abnormal peripheral nervous system morphology	25978	CHMP2B	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	5663	PSEN1	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	2896	GRN	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	54664	TMEM106B	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	4137	MAPT	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	54209	TREM2	ORPHA:100070
HP:0000759	Abnormal peripheral nervous system morphology	427	ASAH1	OMIM:159950
HP:0000759	Abnormal peripheral nervous system morphology	7317	UBA1	OMIM:301830
HP:0000759	Abnormal peripheral nervous system morphology	7317	UBA1	ORPHA:1145
HP:0000759	Abnormal peripheral nervous system morphology	65250	CPLANE1	ORPHA:65684
HP:0000759	Abnormal peripheral nervous system morphology	57562	CEP126	ORPHA:65684
HP:0000759	Abnormal peripheral nervous system morphology	6606	SMN1	OMIM:253550
HP:0000759	Abnormal peripheral nervous system morphology	6606	SMN1	OMIM:271150
HP:0000759	Abnormal peripheral nervous system morphology	6606	SMN1	OMIM:253400
HP:0000759	Abnormal peripheral nervous system morphology	10342	TFG	OMIM:604484
HP:0000759	Abnormal peripheral nervous system morphology	6647	SOD1	OMIM:105400
HP:0000759	Abnormal peripheral nervous system morphology	5630	PRPH	OMIM:105400
HP:0000759	Abnormal peripheral nervous system morphology	1639	DCTN1	OMIM:105400
HP:0000759	Abnormal peripheral nervous system morphology	4744	NEFH	OMIM:105400
HP:0000759	Abnormal peripheral nervous system morphology	311	ANXA11	OMIM:617839
HP:0000759	Abnormal peripheral nervous system morphology	3508	IGHMBP2	OMIM:604320
HP:0000759	Abnormal peripheral nervous system morphology	6607	SMN2	OMIM:253400
HP:0000759	Abnormal peripheral nervous system morphology	3458	IFNG	ORPHA:805
HP:0000759	Abnormal peripheral nervous system morphology	7248	TSC1	ORPHA:805
HP:0000759	Abnormal peripheral nervous system morphology	7249	TSC2	ORPHA:805
HP:0000759	Abnormal peripheral nervous system morphology	1616	DAXX	ORPHA:100075
HP:0000759	Abnormal peripheral nervous system morphology	546	ATRX	ORPHA:100075
HP:0000759	Abnormal peripheral nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0000759	Abnormal peripheral nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0000759	Abnormal peripheral nervous system morphology	8929	PHOX2B	ORPHA:99803
HP:0000759	Abnormal peripheral nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0000759	Abnormal peripheral nervous system morphology	1908	EDN3	ORPHA:661
HP:0000759	Abnormal peripheral nervous system morphology	2668	GDNF	ORPHA:661
HP:0000759	Abnormal peripheral nervous system morphology	627	BDNF	ORPHA:661
HP:0000759	Abnormal peripheral nervous system morphology	283446	MYO1H	ORPHA:661
HP:0000759	Abnormal peripheral nervous system morphology	429	ASCL1	ORPHA:99803
HP:0000759	Abnormal peripheral nervous system morphology	50846	DHH	ORPHA:168563
HP:0000759	Abnormal peripheral nervous system morphology	7879	RAB7A	OMIM:600882
HP:0000759	Abnormal peripheral nervous system morphology	10743	RAI1	ORPHA:477817
HP:0000759	Abnormal peripheral nervous system morphology	65125	WNK1	OMIM:201300
HP:0000759	Abnormal peripheral nervous system morphology	6335	SCN9A	OMIM:201300
HP:0000759	Abnormal peripheral nervous system morphology	1786	DNMT1	OMIM:614116
HP:0000759	Abnormal peripheral nervous system morphology	1337	COX6A1	OMIM:616039
HP:0000759	Abnormal peripheral nervous system morphology	84668	HYCC1	OMIM:610532
HP:0000759	Abnormal peripheral nervous system morphology	8518	ELP1	OMIM:223900
HP:0000759	Abnormal peripheral nervous system morphology	87178	PNPT1	ORPHA:101111
HP:0000759	Abnormal peripheral nervous system morphology	26278	SACS	OMIM:270550
HP:0000759	Abnormal peripheral nervous system morphology	9131	AIFM1	ORPHA:238329
HP:0000759	Abnormal peripheral nervous system morphology	9131	AIFM1	OMIM:300614
HP:0000759	Abnormal peripheral nervous system morphology	9131	AIFM1	OMIM:310490
HP:0000759	Abnormal peripheral nervous system morphology	23646	PLD3	OMIM:617770
HP:0000759	Abnormal peripheral nervous system morphology	3094	HINT1	ORPHA:324442
HP:0000759	Abnormal peripheral nervous system morphology	3094	HINT1	OMIM:137200
HP:0000759	Abnormal peripheral nervous system morphology	25923	ATL3	OMIM:615632
HP:0000759	Abnormal peripheral nervous system morphology	2259	FGF14	ORPHA:98764
HP:0000759	Abnormal peripheral nervous system morphology	25894	PLEKHG4	ORPHA:98765
HP:0000759	Abnormal peripheral nervous system morphology	57165	GJC2	OMIM:608804
HP:0000759	Abnormal peripheral nervous system morphology	7084	TK2	ORPHA:254886
HP:0000759	Abnormal peripheral nervous system morphology	3074	HEXB	ORPHA:309169
HP:0000759	Abnormal peripheral nervous system morphology	6472	SHMT2	OMIM:619121
HP:0000759	Abnormal peripheral nervous system morphology	63895	PIEZO2	OMIM:617146
HP:0000759	Abnormal peripheral nervous system morphology	219285	SAMD9L	OMIM:619806
HP:0000759	Abnormal peripheral nervous system morphology	51	ACOX1	OMIM:618960
HP:0000759	Abnormal peripheral nervous system morphology	116228	COX20	OMIM:619054
HP:0000759	Abnormal peripheral nervous system morphology	7518	XRCC4	OMIM:616541
HP:0000759	Abnormal peripheral nervous system morphology	1509	CTSD	OMIM:610127
HP:0000759	Abnormal peripheral nervous system morphology	823	CAPN1	OMIM:616907
HP:0000759	Abnormal peripheral nervous system morphology	8139	GAN	OMIM:256850
HP:0000759	Abnormal peripheral nervous system morphology	8449	DHX16	OMIM:618733
HP:0000759	Abnormal peripheral nervous system morphology	144165	PRICKLE1	OMIM:612437
HP:0000759	Abnormal peripheral nervous system morphology	2395	FXN	ORPHA:95
HP:0000759	Abnormal peripheral nervous system morphology	4976	OPA1	OMIM:210000
HP:0000759	Abnormal peripheral nervous system morphology	57716	PRX	OMIM:614895
HP:0000759	Abnormal peripheral nervous system morphology	54332	GDAP1	OMIM:214400
HP:0000759	Abnormal peripheral nervous system morphology	2131	EXT1	ORPHA:321
HP:0000759	Abnormal peripheral nervous system morphology	2131	EXT1	OMIM:133700
HP:0000759	Abnormal peripheral nervous system morphology	2132	EXT2	ORPHA:321
HP:0000759	Abnormal peripheral nervous system morphology	2132	EXT2	OMIM:133701
HP:0000759	Abnormal peripheral nervous system morphology	1134	CHRNA1	OMIM:601462
HP:0000759	Abnormal peripheral nervous system morphology	1134	CHRNA1	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	8292	COLQ	ORPHA:98915
HP:0000759	Abnormal peripheral nervous system morphology	8292	COLQ	OMIM:603034
HP:0000759	Abnormal peripheral nervous system morphology	3913	LAMB2	ORPHA:98915
HP:0000759	Abnormal peripheral nervous system morphology	2673	GFPT1	OMIM:608931
HP:0000759	Abnormal peripheral nervous system morphology	1145	CHRNE	OMIM:608931
HP:0000759	Abnormal peripheral nervous system morphology	1145	CHRNE	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	6329	SCN4A	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	1140	CHRNB1	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	1144	CHRND	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	4593	MUSK	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	5913	RAPSN	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	221264	AK9	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	285489	DOK7	ORPHA:98913
HP:0000759	Abnormal peripheral nervous system morphology	54936	ADPRS	OMIM:618170
HP:0000759	Abnormal peripheral nervous system morphology	29978	UBQLN2	OMIM:300857
HP:0000759	Abnormal peripheral nervous system morphology	64423	INF2	OMIM:614455
HP:0000759	Abnormal peripheral nervous system morphology	5981	RFC1	OMIM:614575
HP:0000759	Abnormal peripheral nervous system morphology	9896	FIG4	OMIM:611228
HP:0000759	Abnormal peripheral nervous system morphology	9531	BAG3	OMIM:612954
HP:0000759	Abnormal peripheral nervous system morphology	4000	LMNA	ORPHA:98856
HP:0000759	Abnormal peripheral nervous system morphology	55768	NGLY1	ORPHA:404454
HP:0000759	Abnormal peripheral nervous system morphology	56704	JPH1	OMIM:607831
HP:0000759	Abnormal peripheral nervous system morphology	8565	YARS1	OMIM:608323
HP:0000759	Abnormal peripheral nervous system morphology	9326	ZNHIT3	OMIM:260565
HP:0000759	Abnormal peripheral nervous system morphology	291	SLC25A4	ORPHA:254892
HP:0000759	Abnormal peripheral nervous system morphology	5428	POLG	ORPHA:254892
HP:0000759	Abnormal peripheral nervous system morphology	5428	POLG	ORPHA:298
HP:0000759	Abnormal peripheral nervous system morphology	5428	POLG	OMIM:607459
HP:0000759	Abnormal peripheral nervous system morphology	56652	TWNK	ORPHA:254892
HP:0000759	Abnormal peripheral nervous system morphology	56652	TWNK	OMIM:607459
HP:0000759	Abnormal peripheral nervous system morphology	11232	POLG2	ORPHA:254892
HP:0000759	Abnormal peripheral nervous system morphology	11232	POLG2	OMIM:619425
HP:0000759	Abnormal peripheral nervous system morphology	50484	RRM2B	ORPHA:254892
HP:0000759	Abnormal peripheral nervous system morphology	50484	RRM2B	ORPHA:298
HP:0000759	Abnormal peripheral nervous system morphology	9488	PIGB	OMIM:618580
HP:0000759	Abnormal peripheral nervous system morphology	4141	MARS1	OMIM:616280
HP:0000759	Abnormal peripheral nervous system morphology	4558	MT-TF	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4572	MT-TQ	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4512	MT-CO1	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4513	MT-CO2	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4514	MT-CO3	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4578	MT-TW	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4540	MT-ND5	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4541	MT-ND6	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4535	MT-ND1	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4538	MT-ND4	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4567	MT-TL1	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4574	MT-TS1	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4575	MT-TS2	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	4564	MT-TH	ORPHA:550
HP:0000759	Abnormal peripheral nervous system morphology	23769	FLRT1	ORPHA:320406
HP:0000759	Abnormal peripheral nervous system morphology	64837	KLC2	ORPHA:320406
HP:0000759	Abnormal peripheral nervous system morphology	91574	MTRFR	ORPHA:254930
HP:0000759	Abnormal peripheral nervous system morphology	91574	MTRFR	OMIM:615035
HP:0000759	Abnormal peripheral nervous system morphology	1161	ERCC8	ORPHA:90324
HP:0000759	Abnormal peripheral nervous system morphology	2074	ERCC6	ORPHA:90324
HP:0000759	Abnormal peripheral nervous system morphology	80821	DDHD1	OMIM:609340
HP:0000759	Abnormal peripheral nervous system morphology	50717	DCAF8	OMIM:610100
HP:0000759	Abnormal peripheral nervous system morphology	57704	GBA2	ORPHA:352641
HP:0000759	Abnormal peripheral nervous system morphology	57704	GBA2	ORPHA:320391
HP:0000759	Abnormal peripheral nervous system morphology	673	BRAF	OMIM:115150
HP:0000759	Abnormal peripheral nervous system morphology	19	ABCA1	OMIM:205400
HP:0000759	Abnormal peripheral nervous system morphology	19	ABCA1	ORPHA:31150
HP:0000759	Abnormal peripheral nervous system morphology	4508	MT-ATP6	ORPHA:320360
HP:0000759	Abnormal peripheral nervous system morphology	4747	NEFL	ORPHA:99939
HP:0000759	Abnormal peripheral nervous system morphology	5361	PLXNA1	OMIM:619955
HP:0000759	Abnormal peripheral nervous system morphology	23345	SYNE1	OMIM:610743
HP:0000759	Abnormal peripheral nervous system morphology	10516	FBLN5	OMIM:608895
HP:0000759	Abnormal peripheral nervous system morphology	274	BIN1	ORPHA:169189
HP:0000759	Abnormal peripheral nervous system morphology	64419	MTMR14	ORPHA:169189
HP:0000759	Abnormal peripheral nervous system morphology	4618	MYF6	ORPHA:169189
HP:0000759	Abnormal peripheral nervous system morphology	1785	DNM2	ORPHA:169189
HP:0000759	Abnormal peripheral nervous system morphology	6261	RYR1	ORPHA:169189
HP:0000759	Abnormal peripheral nervous system morphology	59341	TRPV4	OMIM:156530
HP:0000759	Abnormal peripheral nervous system morphology	200205	IBA57	ORPHA:468661
HP:0000759	Abnormal peripheral nervous system morphology	200205	IBA57	OMIM:616451
HP:0000759	Abnormal peripheral nervous system morphology	55187	VPS13D	OMIM:607317
HP:0000759	Abnormal peripheral nervous system morphology	81790	RNF170	OMIM:619686
HP:0000759	Abnormal peripheral nervous system morphology	478	ATP1A3	OMIM:601338
HP:0000759	Abnormal peripheral nervous system morphology	55182	RNF220	OMIM:619688
HP:0000759	Abnormal peripheral nervous system morphology	6905	TBCE	ORPHA:496756
HP:0000759	Abnormal peripheral nervous system morphology	6905	TBCE	OMIM:617207
HP:0000759	Abnormal peripheral nervous system morphology	547	KIF1A	OMIM:610357
HP:0000759	Abnormal peripheral nervous system morphology	547	KIF1A	OMIM:614255
HP:0000759	Abnormal peripheral nervous system morphology	10908	PNPLA6	OMIM:275400
HP:0000759	Abnormal peripheral nervous system morphology	5660	PSAP	OMIM:611722
HP:0000759	Abnormal peripheral nervous system morphology	271	AMPD2	OMIM:615809
HP:0000759	Abnormal peripheral nervous system morphology	3767	KCNJ11	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	6774	STAT3	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	2645	GCK	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	3651	PDX1	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	6833	ABCC8	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	3630	INS	ORPHA:99885
HP:0000759	Abnormal peripheral nervous system morphology	1890	TYMP	ORPHA:298
HP:0000759	Abnormal peripheral nervous system morphology	3980	LIG3	ORPHA:298
HP:0000759	Abnormal peripheral nervous system morphology	8888	MCM3AP	OMIM:618124
HP:0000759	Abnormal peripheral nervous system morphology	23250	ATP11A	OMIM:619851
HP:0000759	Abnormal peripheral nervous system morphology	23321	TRIM2	OMIM:615490
HP:0000759	Abnormal peripheral nervous system morphology	4358	MPV17	OMIM:618400
HP:0000759	Abnormal peripheral nervous system morphology	10381	TUBB3	OMIM:600638
HP:0000759	Abnormal peripheral nervous system morphology	215	ABCD1	ORPHA:139396
HP:0000759	Abnormal peripheral nervous system morphology	79628	SH3TC2	OMIM:613353
HP:0000759	Abnormal peripheral nervous system morphology	1778	DYNC1H1	OMIM:614563
HP:0000759	Abnormal peripheral nervous system morphology	55157	DARS2	ORPHA:137898
HP:0000759	Abnormal peripheral nervous system morphology	55157	DARS2	OMIM:611105
HP:0000759	Abnormal peripheral nervous system morphology	91137	SLC25A46	OMIM:616505
HP:0000759	Abnormal peripheral nervous system morphology	91137	SLC25A46	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	54463	RETREG1	OMIM:613115
HP:0000759	Abnormal peripheral nervous system morphology	51008	ASCC1	OMIM:616867
HP:0000759	Abnormal peripheral nervous system morphology	9325	TRIP4	OMIM:616866
HP:0000759	Abnormal peripheral nervous system morphology	8398	PLA2G6	ORPHA:35069
HP:0000759	Abnormal peripheral nervous system morphology	5351	PLOD1	ORPHA:1900
HP:0000759	Abnormal peripheral nervous system morphology	10939	AFG3L2	ORPHA:313772
HP:0000759	Abnormal peripheral nervous system morphology	7276	TTR	OMIM:105210
HP:0000759	Abnormal peripheral nervous system morphology	2632	GBE1	OMIM:263570
HP:0000759	Abnormal peripheral nervous system morphology	10367	MICU1	ORPHA:401768
HP:0000759	Abnormal peripheral nervous system morphology	10367	MICU1	OMIM:615673
HP:0000759	Abnormal peripheral nervous system morphology	23400	ATP13A2	ORPHA:513436
HP:0000759	Abnormal peripheral nervous system morphology	23400	ATP13A2	OMIM:617225
HP:0000759	Abnormal peripheral nervous system morphology	2064	ERBB2	OMIM:619465
HP:0000759	Abnormal peripheral nervous system morphology	80208	SPG11	ORPHA:2822
HP:0000759	Abnormal peripheral nervous system morphology	80208	SPG11	OMIM:616668
HP:0000759	Abnormal peripheral nervous system morphology	55775	TDP1	OMIM:607250
HP:0000759	Abnormal peripheral nervous system morphology	23230	VPS13A	ORPHA:2388
HP:0000759	Abnormal peripheral nervous system morphology	55210	ATAD3A	OMIM:618810
HP:0000759	Abnormal peripheral nervous system morphology	55210	ATAD3A	ORPHA:496790
HP:0000759	Abnormal peripheral nervous system morphology	55210	ATAD3A	OMIM:617183
HP:0000759	Abnormal peripheral nervous system morphology	2783	GNB2	OMIM:619503
HP:0000759	Abnormal peripheral nervous system morphology	4359	MPZ	ORPHA:101082
HP:0000759	Abnormal peripheral nervous system morphology	3475	IFRD1	ORPHA:98771
HP:0000759	Abnormal peripheral nervous system morphology	3735	KARS1	OMIM:619196
HP:0000759	Abnormal peripheral nervous system morphology	113612	CYP2U1	OMIM:615030
HP:0000759	Abnormal peripheral nervous system morphology	113612	CYP2U1	ORPHA:320411
HP:0000759	Abnormal peripheral nervous system morphology	65260	COA7	OMIM:618387
HP:0000759	Abnormal peripheral nervous system morphology	7415	VCP	ORPHA:435387
HP:0000759	Abnormal peripheral nervous system morphology	3845	KRAS	OMIM:615278
HP:0000759	Abnormal peripheral nervous system morphology	11340	EXOSC8	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	5393	EXOSC9	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	23287	AGTPBP1	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	51010	EXOSC3	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	7443	VRK1	ORPHA:2254
HP:0000759	Abnormal peripheral nervous system morphology	4287	ATXN3	ORPHA:276244
HP:0000759	Abnormal peripheral nervous system morphology	60481	ELOVL5	OMIM:615957
HP:0000759	Abnormal peripheral nervous system morphology	7345	UCHL1	OMIM:620221
HP:0000759	Abnormal peripheral nervous system morphology	23503	ZFYVE26	OMIM:270700
HP:0000759	Abnormal peripheral nervous system morphology	23503	ZFYVE26	ORPHA:100996
HP:0000759	Abnormal peripheral nervous system morphology	4311	MME	ORPHA:497764
HP:0000759	Abnormal peripheral nervous system morphology	3766	KCNJ10	ORPHA:199343
HP:0000759	Abnormal peripheral nervous system morphology	55958	KLHL9	ORPHA:399081
HP:0000759	Abnormal peripheral nervous system morphology	23095	KIF1B	OMIM:118210
HP:0000759	Abnormal peripheral nervous system morphology	6785	ELOVL4	OMIM:133190
HP:0000759	Abnormal peripheral nervous system morphology	51062	ATL1	OMIM:613708
HP:0000759	Abnormal peripheral nervous system morphology	80347	COASY	ORPHA:397725
HP:0000759	Abnormal peripheral nervous system morphology	22880	MORC2	OMIM:619090
HP:0000759	Abnormal peripheral nervous system morphology	1716	DGUOK	OMIM:617070
HP:0000759	Abnormal peripheral nervous system morphology	9147	NEMF	OMIM:619099
HP:0000759	Abnormal peripheral nervous system morphology	2733	GLE1	OMIM:611890
HP:0000759	Abnormal peripheral nervous system morphology	60386	SLC25A19	OMIM:613710
HP:0000759	Abnormal peripheral nervous system morphology	23533	PIK3R5	OMIM:615217
HP:0000759	Abnormal peripheral nervous system morphology	57731	SPTBN4	OMIM:617519
HP:0000759	Abnormal peripheral nervous system morphology	5832	ALDH18A1	ORPHA:447757
HP:0000759	Abnormal peripheral nervous system morphology	4556	MT-TE	ORPHA:2596
HP:0000759	Abnormal peripheral nervous system morphology	710	SERPING1	OMIM:106100
HP:0000759	Abnormal peripheral nervous system morphology	26353	HSPB8	OMIM:608673
HP:0000759	Abnormal peripheral nervous system morphology	4668	NAGA	OMIM:609242
HP:0000759	Abnormal peripheral nervous system morphology	3098	HK1	ORPHA:99953
HP:0000759	Abnormal peripheral nervous system morphology	5631	PRPS1	OMIM:300661
HP:0000759	Abnormal peripheral nervous system morphology	3798	KIF5A	ORPHA:100991
HP:0000759	Abnormal peripheral nervous system morphology	9927	MFN2	OMIM:617087
HP:0000759	Abnormal peripheral nervous system morphology	27072	VPS41	OMIM:619389
HP:0000759	Abnormal peripheral nervous system morphology	7466	WFS1	ORPHA:411590
HP:0000759	Abnormal peripheral nervous system morphology	22948	CCT5	OMIM:256840
HP:0000759	Abnormal peripheral nervous system morphology	16	AARS1	OMIM:613287
HP:0000759	Abnormal peripheral nervous system morphology	23064	SETX	OMIM:606002
HP:0000759	Abnormal peripheral nervous system morphology	3315	HSPB1	ORPHA:99940
HP:0000759	Abnormal peripheral nervous system morphology	65055	REEP1	OMIM:620011
HP:0000759	Abnormal peripheral nervous system morphology	9990	SLC12A6	OMIM:218000
HP:0000759	Abnormal peripheral nervous system morphology	4536	MT-ND2	ORPHA:255210
HP:0000759	Abnormal peripheral nervous system morphology	4537	MT-ND3	ORPHA:255210
HP:0000759	Abnormal peripheral nervous system morphology	4577	MT-TV	ORPHA:255210
HP:0000759	Abnormal peripheral nervous system morphology	4566	MT-TK	ORPHA:255210
HP:0000759	Abnormal peripheral nervous system morphology	10397	NDRG1	OMIM:601455
HP:0000759	Abnormal peripheral nervous system morphology	9516	LITAF	OMIM:601098
HP:0000759	Abnormal peripheral nervous system morphology	8729	GBF1	OMIM:606483
HP:0000759	Abnormal peripheral nervous system morphology	5376	PMP22	OMIM:118220
HP:0000759	Abnormal peripheral nervous system morphology	6305	SBF1	OMIM:615284
HP:0000759	Abnormal peripheral nervous system morphology	81846	SBF2	ORPHA:99956
HP:0000759	Abnormal peripheral nervous system morphology	6663	SOX10	OMIM:609136
HP:0000759	Abnormal peripheral nervous system morphology	8898	MTMR2	OMIM:601382
HP:0000759	Abnormal peripheral nervous system morphology	60482	SLC5A7	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	4649	MYO9A	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	1305	COL13A1	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	1103	CHAT	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	6576	SLC25A1	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	6843	VAMP1	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	375790	AGRN	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	127833	SYT2	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	6572	SLC18A3	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	6616	SNAP25	ORPHA:98914
HP:0000759	Abnormal peripheral nervous system morphology	324	APC	OMIM:175100
HP:0000759	Abnormal peripheral nervous system morphology	324	APC	ORPHA:79665
HP:0000759	Abnormal peripheral nervous system morphology	7428	VHL	ORPHA:892
HP:0000759	Abnormal peripheral nervous system morphology	7428	VHL	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	7428	VHL	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	595	CCND1	ORPHA:892
HP:0000759	Abnormal peripheral nervous system morphology	1743	DLST	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	4191	MDH2	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	5979	RET	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	5979	RET	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	6389	SDHA	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	2271	FH	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	8402	SLC25A11	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	54949	SDHAF2	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	55654	TMEM127	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	4763	NF1	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	6391	SDHC	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	6391	SDHC	OMIM:605373
HP:0000759	Abnormal peripheral nervous system morphology	6392	SDHD	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	6392	SDHD	OMIM:168000
HP:0000759	Abnormal peripheral nervous system morphology	6392	SDHD	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	6390	SDHB	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	6390	SDHB	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	6390	SDHB	OMIM:115310
HP:0000759	Abnormal peripheral nervous system morphology	4149	MAX	ORPHA:29072
HP:0000759	Abnormal peripheral nervous system morphology	1788	DNMT3A	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	2034	EPAS1	ORPHA:276621
HP:0000759	Abnormal peripheral nervous system morphology	2639	GCDH	OMIM:231670
HP:0000759	Abnormal peripheral nervous system morphology	6904	TBCD	ORPHA:496641
HP:0000759	Abnormal peripheral nervous system morphology	64856	VWA1	OMIM:619216
HP:0000759	Abnormal peripheral nervous system morphology	3839	KPNA3	OMIM:620106
HP:0000759	Abnormal peripheral nervous system morphology	29926	GMPPA	ORPHA:869
HP:0000759	Abnormal peripheral nervous system morphology	60684	TRAPPC11	ORPHA:869
HP:0000759	Abnormal peripheral nervous system morphology	8086	AAAS	ORPHA:869
HP:0000759	Abnormal peripheral nervous system morphology	8086	AAAS	OMIM:231550
HP:0000759	Abnormal peripheral nervous system morphology	57599	WDR48	ORPHA:401800
HP:0000759	Abnormal peripheral nervous system morphology	7504	XK	OMIM:300842
HP:0000759	Abnormal peripheral nervous system morphology	51305	KCNK9	ORPHA:166108
HP:0000759	Abnormal peripheral nervous system morphology	7453	WARS1	OMIM:617721
HP:0000759	Abnormal peripheral nervous system morphology	5192	PEX10	OMIM:614871
HP:0000759	Abnormal peripheral nervous system morphology	5192	PEX10	ORPHA:247815
HP:0000759	Abnormal peripheral nervous system morphology	3035	HARS1	ORPHA:488333
HP:0000759	Abnormal peripheral nervous system morphology	3145	HMBS	ORPHA:79276
HP:0000759	Abnormal peripheral nervous system morphology	9517	SPTLC2	ORPHA:36386
HP:0000759	Abnormal peripheral nervous system morphology	113278	SLC52A3	OMIM:211530
HP:0000759	Abnormal peripheral nervous system morphology	121512	FGD4	OMIM:609311
HP:0000759	Abnormal peripheral nervous system morphology	112	ADCY6	OMIM:616287
HP:0000759	Abnormal peripheral nervous system morphology	84570	COL25A1	ORPHA:91411
HP:0000759	Abnormal peripheral nervous system morphology	79776	ZFHX4	ORPHA:91411
HP:0000759	Abnormal peripheral nervous system morphology	27247	NFU1	OMIM:605711
HP:0000759	Abnormal peripheral nervous system morphology	1282	COL4A1	OMIM:175780
HP:0000759	Abnormal peripheral nervous system morphology	773	CACNA1A	ORPHA:569
HP:0000759	Abnormal peripheral nervous system morphology	112476	PRRT2	ORPHA:569
HP:0000759	Abnormal peripheral nervous system morphology	6323	SCN1A	ORPHA:569
HP:0000759	Abnormal peripheral nervous system morphology	477	ATP1A2	ORPHA:569
HP:0000759	Abnormal peripheral nervous system morphology	4803	NGF	ORPHA:64752
HP:0000759	Abnormal peripheral nervous system morphology	4914	NTRK1	ORPHA:64752
HP:0000759	Abnormal peripheral nervous system morphology	4914	NTRK1	OMIM:256800
HP:0000759	Abnormal peripheral nervous system morphology	4001	LMNB1	OMIM:169500
HP:0000759	Abnormal peripheral nervous system morphology	10558	SPTLC1	OMIM:162400
HP:0000759	Abnormal peripheral nervous system morphology	84342	COG8	ORPHA:95428
HP:0000759	Abnormal peripheral nervous system morphology	79639	TMEM53	OMIM:619727
HP:0000759	Abnormal peripheral nervous system morphology	84196	USP48	ORPHA:96253
HP:0000759	Abnormal peripheral nervous system morphology	7157	TP53	ORPHA:96253
HP:0000759	Abnormal peripheral nervous system morphology	9101	USP8	ORPHA:96253
HP:0000759	Abnormal peripheral nervous system morphology	64072	CDH23	ORPHA:96253
HP:0000759	Abnormal peripheral nervous system morphology	2908	NR3C1	ORPHA:96253
HP:0000759	Abnormal peripheral nervous system morphology	29887	SNX10	ORPHA:667
HP:0000759	Abnormal peripheral nervous system morphology	10312	TCIRG1	ORPHA:210110
HP:0000759	Abnormal peripheral nervous system morphology	1186	CLCN7	ORPHA:210110
HP:0000759	Abnormal peripheral nervous system morphology	9842	PLEKHM1	ORPHA:210110
HP:0000759	Abnormal peripheral nervous system morphology	161742	SPRED1	ORPHA:137605
HP:0000759	Abnormal peripheral nervous system morphology	3265	HRAS	OMIM:218040
HP:0000759	Abnormal peripheral nervous system morphology	4771	NF2	OMIM:162091
HP:0000759	Abnormal peripheral nervous system morphology	6598	SMARCB1	OMIM:162091
HP:0000759	Abnormal peripheral nervous system morphology	1690	COCH	OMIM:601369
HP:0000759	Abnormal peripheral nervous system morphology	4292	MLH1	OMIM:276300
HP:0000759	Abnormal peripheral nervous system morphology	5621	PRNP	ORPHA:282166
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	ORPHA:97240
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	ORPHA:171433
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	ORPHA:171430
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	OMIM:616852
HP:0000759	Abnormal peripheral nervous system morphology	58	ACTA1	OMIM:161800
HP:0000759	Abnormal peripheral nervous system morphology	50964	SOST	OMIM:269500
HP:0000759	Abnormal peripheral nervous system morphology	50964	SOST	ORPHA:3416
HP:0000759	Abnormal peripheral nervous system morphology	50964	SOST	ORPHA:3152
HP:0000759	Abnormal peripheral nervous system morphology	10290	SPEG	ORPHA:169186
HP:0000759	Abnormal peripheral nervous system morphology	7273	TTN	ORPHA:169186
HP:0000759	Abnormal peripheral nervous system morphology	22827	PUF60	ORPHA:508498
HP:0000759	Abnormal peripheral nervous system morphology	55906	ZC4H2	OMIM:301041
HP:0000759	Abnormal peripheral nervous system morphology	55906	ZC4H2	OMIM:314580
HP:0000759	Abnormal peripheral nervous system morphology	1291	COL6A1	OMIM:254090
HP:0000759	Abnormal peripheral nervous system morphology	1292	COL6A2	OMIM:254090
HP:0000759	Abnormal peripheral nervous system morphology	1292	COL6A2	OMIM:255600
HP:0000759	Abnormal peripheral nervous system morphology	1293	COL6A3	OMIM:254090
HP:0000759	Abnormal peripheral nervous system morphology	2138	EYA1	OMIM:113650
HP:0000759	Abnormal peripheral nervous system morphology	2138	EYA1	ORPHA:107
HP:0000759	Abnormal peripheral nervous system morphology	2138	EYA1	ORPHA:52429
HP:0000759	Abnormal peripheral nervous system morphology	6495	SIX1	OMIM:113650
HP:0000759	Abnormal peripheral nervous system morphology	6495	SIX1	ORPHA:107
HP:0000759	Abnormal peripheral nervous system morphology	6495	SIX1	ORPHA:52429
HP:0000759	Abnormal peripheral nervous system morphology	56203	LMOD3	OMIM:616165
HP:0000759	Abnormal peripheral nervous system morphology	56203	LMOD3	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	56203	LMOD3	ORPHA:171430
HP:0000759	Abnormal peripheral nervous system morphology	23394	ADNP	OMIM:615873
HP:0000759	Abnormal peripheral nervous system morphology	825	CAPN3	OMIM:253600
HP:0000759	Abnormal peripheral nervous system morphology	57167	SALL4	OMIM:607323
HP:0000759	Abnormal peripheral nervous system morphology	79581	SLC52A2	OMIM:614707
HP:0000759	Abnormal peripheral nervous system morphology	10049	DNAJB6	OMIM:603511
HP:0000759	Abnormal peripheral nervous system morphology	1120	CHKB	OMIM:602541
HP:0000759	Abnormal peripheral nervous system morphology	7169	TPM2	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	7169	TPM2	ORPHA:171881
HP:0000759	Abnormal peripheral nervous system morphology	4703	NEB	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	4703	NEB	ORPHA:171433
HP:0000759	Abnormal peripheral nervous system morphology	4703	NEB	ORPHA:171430
HP:0000759	Abnormal peripheral nervous system morphology	10324	KLHL41	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	10324	KLHL41	ORPHA:171433
HP:0000759	Abnormal peripheral nervous system morphology	10324	KLHL41	ORPHA:171430
HP:0000759	Abnormal peripheral nervous system morphology	1073	CFL2	ORPHA:171436
HP:0000759	Abnormal peripheral nervous system morphology	92667	MGME1	OMIM:615084
HP:0000759	Abnormal peripheral nervous system morphology	7170	TPM3	ORPHA:171433
HP:0000759	Abnormal peripheral nervous system morphology	7170	TPM3	ORPHA:171881
HP:0000759	Abnormal peripheral nervous system morphology	7170	TPM3	OMIM:255310
HP:0000759	Abnormal peripheral nervous system morphology	29998	BICRA	OMIM:619325
HP:0000759	Abnormal peripheral nervous system morphology	131377	KLHL40	ORPHA:171430
HP:0000759	Abnormal peripheral nervous system morphology	131377	KLHL40	OMIM:615348
HP:0000759	Abnormal peripheral nervous system morphology	9790	BMS1	ORPHA:1114
HP:0000759	Abnormal peripheral nervous system morphology	5339	PLEC	ORPHA:1114
HP:0000759	Abnormal peripheral nervous system morphology	10054	UBA2	ORPHA:1114
HP:0000759	Abnormal peripheral nervous system morphology	3691	ITGB4	ORPHA:1114
HP:0000759	Abnormal peripheral nervous system morphology	54567	DLL4	ORPHA:1114
HP:0000759	Abnormal peripheral nervous system morphology	4041	LRP5	ORPHA:3416
HP:0000759	Abnormal peripheral nervous system morphology	4041	LRP5	ORPHA:2790
HP:0000759	Abnormal peripheral nervous system morphology	4041	LRP5	ORPHA:178377
HP:0000759	Abnormal peripheral nervous system morphology	84466	MEGF10	OMIM:614399
HP:0000759	Abnormal peripheral nervous system morphology	3908	LAMA2	ORPHA:258
HP:0000759	Abnormal peripheral nervous system morphology	4625	MYH7	OMIM:160500
HP:0000759	Abnormal peripheral nervous system morphology	4625	MYH7	ORPHA:437572
HP:0000759	Abnormal peripheral nervous system morphology	389827	MYMK	ORPHA:1358
HP:0000759	Abnormal peripheral nervous system morphology	389827	MYMK	OMIM:254940
HP:0000759	Abnormal peripheral nervous system morphology	101929726	MYMX	ORPHA:1358
HP:0000759	Abnormal peripheral nervous system morphology	29925	GMPPB	ORPHA:353327
HP:0000759	Abnormal peripheral nervous system morphology	29925	GMPPB	ORPHA:370968
HP:0000759	Abnormal peripheral nervous system morphology	1798	DPAGT1	ORPHA:353327
HP:0000759	Abnormal peripheral nervous system morphology	85365	ALG2	ORPHA:353327
HP:0000759	Abnormal peripheral nervous system morphology	199857	ALG14	ORPHA:353327
HP:0000759	Abnormal peripheral nervous system morphology	79147	FKRP	ORPHA:370968
HP:0000759	Abnormal peripheral nervous system morphology	79147	FKRP	OMIM:606612
HP:0000759	Abnormal peripheral nervous system morphology	29954	POMT2	ORPHA:370968
HP:0000759	Abnormal peripheral nervous system morphology	29954	POMT2	OMIM:613156
HP:0000759	Abnormal peripheral nervous system morphology	9215	LARGE1	ORPHA:370968
HP:0000759	Abnormal peripheral nervous system morphology	9215	LARGE1	OMIM:608840
HP:0000759	Abnormal peripheral nervous system morphology	10585	POMT1	ORPHA:370968
HP:0000759	Abnormal peripheral nervous system morphology	10585	POMT1	OMIM:613155
HP:0000759	Abnormal peripheral nervous system morphology	57190	SELENON	OMIM:602771
HP:0000759	Abnormal peripheral nervous system morphology	51816	ADA2	OMIM:182410
HP:0000759	Abnormal peripheral nervous system morphology	5980	REV3L	ORPHA:570
HP:0000759	Abnormal peripheral nervous system morphology	23129	PLXND1	ORPHA:570
HP:0000759	Abnormal peripheral nervous system morphology	10735	STAG2	OMIM:301022
HP:0000759	Abnormal peripheral nervous system morphology	2483	FRG1	OMIM:158900
HP:0000759	Abnormal peripheral nervous system morphology	23347	SMCHD1	OMIM:158901
HP:0000759	Abnormal peripheral nervous system morphology	84665	MYPN	ORPHA:171881
HP:0000759	Abnormal peripheral nervous system morphology	84665	MYPN	OMIM:617336
HP:0000759	Abnormal peripheral nervous system morphology	22954	TRIM32	OMIM:254110
HP:0000759	Abnormal peripheral nervous system morphology	56244	BTNL2	OMIM:612387
HP:0000759	Abnormal peripheral nervous system morphology	56244	BTNL2	ORPHA:797
HP:0000759	Abnormal peripheral nervous system morphology	29967	LRP12	OMIM:164310
HP:0000759	Abnormal peripheral nervous system morphology	10020	GNE	ORPHA:602
HP:0000759	Abnormal peripheral nervous system morphology	7020	TFAP2A	OMIM:113620
HP:0000759	Abnormal peripheral nervous system morphology	51651	PTRH2	ORPHA:456312
HP:0000759	Abnormal peripheral nervous system morphology	1303	COL12A1	OMIM:616470
HP:0000759	Abnormal peripheral nervous system morphology	390594	KBTBD13	OMIM:609273
HP:0000759	Abnormal peripheral nervous system morphology	139285	AMER1	ORPHA:2780
HP:0000759	Abnormal peripheral nervous system morphology	139285	AMER1	OMIM:300373
HP:0000759	Abnormal peripheral nervous system morphology	9244	CRLF1	OMIM:272430
HP:0000759	Abnormal peripheral nervous system morphology	3123	HLA-DRB1	ORPHA:797
HP:0000759	Abnormal peripheral nervous system morphology	84617	TUBB6	OMIM:617732
HP:0000759	Abnormal peripheral nervous system morphology	9791	PTDSS1	ORPHA:2658
HP:0000759	Abnormal peripheral nervous system morphology	3211	HOXB1	OMIM:614744
HP:0000759	Abnormal peripheral nervous system morphology	4534	MTM1	OMIM:310400
HP:0000759	Abnormal peripheral nervous system morphology	8085	KMT2D	OMIM:620186
HP:0000759	Abnormal peripheral nervous system morphology	80704	SLC19A3	OMIM:607483
HP:0000759	Abnormal peripheral nervous system morphology	147912	SIX5	ORPHA:107
HP:0000759	Abnormal peripheral nervous system morphology	2934	GSN	ORPHA:85448
HP:0000759	Abnormal peripheral nervous system morphology	1674	DES	OMIM:601419
HP:0000759	Abnormal peripheral nervous system morphology	6444	SGCD	ORPHA:219
HP:0000759	Abnormal peripheral nervous system morphology	23516	SLC39A14	OMIM:144755
HP:0000759	Abnormal peripheral nervous system morphology	8106	PABPN1	OMIM:164300
HP:0000759	Abnormal peripheral nervous system morphology	55670	PEX26	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5824	PEX19	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5828	PEX2	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	8504	PEX3	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5190	PEX6	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	8799	PEX11B	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5830	PEX5	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5189	PEX1	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5193	PEX12	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5194	PEX13	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	5195	PEX14	ORPHA:772
HP:0000759	Abnormal peripheral nervous system morphology	339855	KY	OMIM:617114
HP:0000759	Abnormal peripheral nervous system morphology	84168	ANTXR1	OMIM:230740
HP:0000759	Abnormal peripheral nervous system morphology	28962	OSTM1	OMIM:259720
HP:0000759	Abnormal peripheral nervous system morphology	4633	MYL2	OMIM:619424
HP:0000759	Abnormal peripheral nervous system morphology	29089	UBE2T	OMIM:616435
HP:0000759	Abnormal peripheral nervous system morphology	203859	ANO5	OMIM:611307
HP:0000759	Abnormal peripheral nervous system morphology	203859	ANO5	ORPHA:206549
HP:0000759	Abnormal peripheral nervous system morphology	1861	TOR1A	OMIM:128100
HP:0000759	Abnormal peripheral nervous system morphology	10749	KIF1C	ORPHA:397946
HP:0000759	Abnormal peripheral nervous system morphology	10128	LRPPRC	OMIM:220111
HP:0000759	Abnormal peripheral nervous system morphology	4547	MTTP	OMIM:200100
HP:0000759	Abnormal peripheral nervous system morphology	6834	SURF1	OMIM:616684
HP:0000759	Abnormal peripheral nervous system morphology	7343	UBTF	OMIM:617672
HP:0000759	Abnormal peripheral nervous system morphology	4337	MOCS1	OMIM:252150
HP:0000759	Abnormal peripheral nervous system morphology	25974	MMACHC	ORPHA:79282
HP:0000759	Abnormal peripheral nervous system morphology	4143	MAT1A	OMIM:250850
HP:0000759	Abnormal peripheral nervous system morphology	9639	ARHGEF10	OMIM:608236
HP:0000759	Abnormal peripheral nervous system morphology	285362	SUMF1	OMIM:272200
HP:0000759	Abnormal peripheral nervous system morphology	9150	CTDP1	OMIM:604168
HP:0000759	Abnormal peripheral nervous system morphology	5354	PLP1	ORPHA:280234
HP:0000759	Abnormal peripheral nervous system morphology	59345	GNB4	OMIM:615185
HP:0000759	Abnormal peripheral nervous system morphology	5375	PMP2	OMIM:618279
HP:0000759	Abnormal peripheral nervous system morphology	7305	TYROBP	OMIM:221770
HP:0000759	Abnormal peripheral nervous system morphology	2581	GALC	OMIM:245200
HP:0000759	Abnormal peripheral nervous system morphology	2581	GALC	ORPHA:206448
HP:0000759	Abnormal peripheral nervous system morphology	10229	COQ7	OMIM:616733
HP:0000759	Abnormal peripheral nervous system morphology	79152	FA2H	ORPHA:171629
HP:0000759	Abnormal peripheral nervous system morphology	9409	PEX16	OMIM:614877
HP:0000759	Abnormal peripheral nervous system morphology	4338	MOCS2	OMIM:252160
HP:0000759	Abnormal peripheral nervous system morphology	410	ARSA	OMIM:250100
HP:0000759	Abnormal peripheral nervous system morphology	28982	FLVCR1	OMIM:609033
HP:0000759	Abnormal peripheral nervous system morphology	57531	HACE1	ORPHA:464282
HP:0000759	Abnormal peripheral nervous system morphology	171023	ASXL1	OMIM:605039
HP:0000759	Abnormal peripheral nervous system morphology	389692	MAFA	OMIM:147630
HP:0000759	Abnormal peripheral nervous system morphology	11198	SUPT16H	OMIM:619480
HP:0000759	Abnormal peripheral nervous system morphology	7516	XRCC2	OMIM:617247
HP:0000759	Abnormal peripheral nervous system morphology	2642	GCGR	ORPHA:438274
HP:0000759	Abnormal peripheral nervous system morphology	11235	PDCD10	ORPHA:221061
HP:0000759	Abnormal peripheral nervous system morphology	83605	CCM2	ORPHA:221061
HP:0000759	Abnormal peripheral nervous system morphology	889	KRIT1	ORPHA:221061
HP:0000759	Abnormal peripheral nervous system morphology	1593	CYP27A1	ORPHA:909
HP:0000759	Abnormal peripheral nervous system morphology	25828	TXN2	ORPHA:478029
HP:0000759	Abnormal peripheral nervous system morphology	25828	TXN2	OMIM:616811
HP:0000759	Abnormal peripheral nervous system morphology	89874	SLC25A21	OMIM:618811
HP:0000759	Abnormal peripheral nervous system morphology	5573	PRKAR1A	OMIM:160980
HP:0000759	Abnormal peripheral nervous system morphology	5573	PRKAR1A	ORPHA:1359
HP:0000759	Abnormal peripheral nervous system morphology	8930	MBD4	OMIM:619975
HP:0000759	Abnormal peripheral nervous system morphology	54894	RNF43	ORPHA:157798
HP:0000759	Abnormal peripheral nervous system morphology	8216	LZTR1	OMIM:615670
HP:0000759	Abnormal peripheral nervous system morphology	50940	PDE11A	ORPHA:1359
HP:0000759	Abnormal peripheral nervous system morphology	567	B2M	ORPHA:314652
HP:0000759	Abnormal peripheral nervous system morphology	79798	ARMC5	ORPHA:189427
HP:0000759	Abnormal peripheral nervous system morphology	2778	GNAS	ORPHA:189427
HP:0000759	Abnormal peripheral nervous system morphology	7528	YY1	ORPHA:97279
HP:0003484	Upper limb muscle weakness	6445	SGCG	ORPHA:353
HP:0003484	Upper limb muscle weakness	4000	LMNA	OMIM:605588
HP:0003484	Upper limb muscle weakness	4000	LMNA	OMIM:613205
HP:0003484	Upper limb muscle weakness	91574	MTRFR	ORPHA:254930
HP:0003484	Upper limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0003484	Upper limb muscle weakness	1789	DNMT3B	OMIM:619478
HP:0003484	Upper limb muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0003484	Upper limb muscle weakness	9420	CYP7B1	OMIM:270800
HP:0003484	Upper limb muscle weakness	4744	NEFH	OMIM:616924
HP:0003484	Upper limb muscle weakness	4747	NEFL	ORPHA:99939
HP:0003484	Upper limb muscle weakness	2617	GARS1	ORPHA:139536
HP:0003484	Upper limb muscle weakness	2617	GARS1	OMIM:600794
HP:0003484	Upper limb muscle weakness	2617	GARS1	OMIM:601472
HP:0003484	Upper limb muscle weakness	26580	BSCL2	ORPHA:139536
HP:0003484	Upper limb muscle weakness	65055	REEP1	ORPHA:139536
HP:0003484	Upper limb muscle weakness	8314	BAP1	ORPHA:2495
HP:0003484	Upper limb muscle weakness	4771	NF2	ORPHA:2495
HP:0003484	Upper limb muscle weakness	6598	SMARCB1	ORPHA:2495
HP:0003484	Upper limb muscle weakness	5155	PDGFB	ORPHA:2495
HP:0003484	Upper limb muscle weakness	84231	TRAF7	ORPHA:2495
HP:0003484	Upper limb muscle weakness	6608	SMO	ORPHA:2495
HP:0003484	Upper limb muscle weakness	207	AKT1	ORPHA:2495
HP:0003484	Upper limb muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0003484	Upper limb muscle weakness	7015	TERT	ORPHA:2495
HP:0003484	Upper limb muscle weakness	51684	SUFU	ORPHA:2495
HP:0003484	Upper limb muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0003484	Upper limb muscle weakness	6687	SPG7	ORPHA:99013
HP:0003484	Upper limb muscle weakness	6687	SPG7	OMIM:607259
HP:0003484	Upper limb muscle weakness	1959	EGR2	OMIM:607678
HP:0003484	Upper limb muscle weakness	1959	EGR2	OMIM:605253
HP:0003484	Upper limb muscle weakness	4359	MPZ	OMIM:607677
HP:0003484	Upper limb muscle weakness	4359	MPZ	OMIM:607791
HP:0003484	Upper limb muscle weakness	2581	GALC	ORPHA:206443
HP:0003484	Upper limb muscle weakness	2581	GALC	ORPHA:206448
HP:0003484	Upper limb muscle weakness	6305	SBF1	OMIM:615284
HP:0003484	Upper limb muscle weakness	3074	HEXB	ORPHA:309169
HP:0003484	Upper limb muscle weakness	8566	PDXK	OMIM:618511
HP:0003484	Upper limb muscle weakness	63895	PIEZO2	OMIM:617146
HP:0003484	Upper limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0003484	Upper limb muscle weakness	10342	TFG	ORPHA:90117
HP:0003484	Upper limb muscle weakness	8565	YARS1	OMIM:608323
HP:0003484	Upper limb muscle weakness	5456	POU3F4	ORPHA:1435
HP:0003484	Upper limb muscle weakness	7428	VHL	ORPHA:892
HP:0003484	Upper limb muscle weakness	595	CCND1	ORPHA:892
HP:0003484	Upper limb muscle weakness	4508	MT-ATP6	ORPHA:225154
HP:0003484	Upper limb muscle weakness	23636	NUP62	ORPHA:225154
HP:0003484	Upper limb muscle weakness	103	ADAR	ORPHA:225154
HP:0003484	Upper limb muscle weakness	55681	SCYL2	ORPHA:1143
HP:0003484	Upper limb muscle weakness	84570	COL25A1	ORPHA:1143
HP:0003484	Upper limb muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0003484	Upper limb muscle weakness	79628	SH3TC2	OMIM:601596
HP:0003484	Upper limb muscle weakness	23111	SPART	ORPHA:101000
HP:0003484	Upper limb muscle weakness	2992	GYG1	ORPHA:263297
HP:0003484	Upper limb muscle weakness	23503	ZFYVE26	ORPHA:100996
HP:0003484	Upper limb muscle weakness	10667	FARS2	OMIM:617046
HP:0003484	Upper limb muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0003484	Upper limb muscle weakness	80199	FUZ	ORPHA:1136
HP:0003484	Upper limb muscle weakness	2583	B4GALNT1	OMIM:609195
HP:0003484	Upper limb muscle weakness	3798	KIF5A	OMIM:604187
HP:0003484	Upper limb muscle weakness	121512	FGD4	OMIM:609311
HP:0003484	Upper limb muscle weakness	54332	GDAP1	OMIM:608340
HP:0003484	Upper limb muscle weakness	339855	KY	ORPHA:496689
HP:0003484	Upper limb muscle weakness	203859	ANO5	ORPHA:399096
HP:0003484	Upper limb muscle weakness	203859	ANO5	ORPHA:206549
HP:0003484	Upper limb muscle weakness	7415	VCP	ORPHA:435387
HP:0003484	Upper limb muscle weakness	7415	VCP	OMIM:616687
HP:0003484	Upper limb muscle weakness	7415	VCP	OMIM:613954
HP:0003484	Upper limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0003484	Upper limb muscle weakness	3991	LIPE	ORPHA:435660
HP:0003484	Upper limb muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0003484	Upper limb muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0003484	Upper limb muscle weakness	64856	VWA1	OMIM:619216
HP:0003484	Upper limb muscle weakness	311	ANXA11	OMIM:619733
HP:0003484	Upper limb muscle weakness	80208	SPG11	OMIM:616668
HP:0003484	Upper limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0003484	Upper limb muscle weakness	9990	SLC12A6	OMIM:620068
HP:0003484	Upper limb muscle weakness	274	BIN1	ORPHA:169189
HP:0003484	Upper limb muscle weakness	64419	MTMR14	ORPHA:169189
HP:0003484	Upper limb muscle weakness	64419	MTMR14	OMIM:160150
HP:0003484	Upper limb muscle weakness	4618	MYF6	ORPHA:169189
HP:0003484	Upper limb muscle weakness	1785	DNM2	ORPHA:169189
HP:0003484	Upper limb muscle weakness	1785	DNM2	OMIM:160150
HP:0003484	Upper limb muscle weakness	6261	RYR1	ORPHA:169189
HP:0003484	Upper limb muscle weakness	2273	FHL1	ORPHA:98863
HP:0003484	Upper limb muscle weakness	2010	EMD	ORPHA:98863
HP:0003484	Upper limb muscle weakness	23676	SMPX	OMIM:301075
HP:0003484	Upper limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0003484	Upper limb muscle weakness	8557	TCAP	OMIM:601954
HP:0003484	Upper limb muscle weakness	3714	JAG2	OMIM:619566
HP:0003484	Upper limb muscle weakness	3908	LAMA2	OMIM:618138
HP:0003484	Upper limb muscle weakness	1371	CPOX	ORPHA:79273
HP:0003484	Upper limb muscle weakness	23175	LPIN1	ORPHA:99845
HP:0003484	Upper limb muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0003484	Upper limb muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0003484	Upper limb muscle weakness	5498	PPOX	ORPHA:79473
HP:0003484	Upper limb muscle weakness	3145	HMBS	ORPHA:79276
HP:0003484	Upper limb muscle weakness	729920	CRPPA	ORPHA:352479
HP:0003484	Upper limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003484	Upper limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003484	Upper limb muscle weakness	79188	TMEM43	ORPHA:98853
HP:0003484	Upper limb muscle weakness	23345	SYNE1	ORPHA:98853
HP:0003484	Upper limb muscle weakness	23224	SYNE2	ORPHA:98853
HP:0003484	Upper limb muscle weakness	81545	FBXO38	OMIM:615575
HP:0003484	Upper limb muscle weakness	8291	DYSF	ORPHA:45448
HP:0003484	Upper limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003484	Upper limb muscle weakness	9927	MFN2	ORPHA:99947
HP:0003484	Upper limb muscle weakness	10585	POMT1	ORPHA:86812
HP:0003484	Upper limb muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003484	Upper limb muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003484	Upper limb muscle weakness	4038	LRP4	ORPHA:98913
HP:0003484	Upper limb muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003484	Upper limb muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003484	Upper limb muscle weakness	1144	CHRND	ORPHA:98913
HP:0003484	Upper limb muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003484	Upper limb muscle weakness	4593	MUSK	ORPHA:98913
HP:0003484	Upper limb muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003484	Upper limb muscle weakness	375790	AGRN	ORPHA:98913
HP:0003484	Upper limb muscle weakness	221264	AK9	ORPHA:98913
HP:0003484	Upper limb muscle weakness	285489	DOK7	ORPHA:98913
HP:0003484	Upper limb muscle weakness	4625	MYH7	ORPHA:437572
HP:0003484	Upper limb muscle weakness	182	JAG1	OMIM:619574
HP:0003484	Upper limb muscle weakness	58	ACTA1	OMIM:616852
HP:0003484	Upper limb muscle weakness	57863	CADM3	OMIM:619519
HP:0003484	Upper limb muscle weakness	11155	LDB3	ORPHA:98912
HP:0003484	Upper limb muscle weakness	5351	PLOD1	ORPHA:1900
HP:0009053	Distal lower limb muscle weakness	7273	TTN	ORPHA:178464
HP:0009053	Distal lower limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0009053	Distal lower limb muscle weakness	2137	EXTL3	ORPHA:508533
HP:0009053	Distal lower limb muscle weakness	51062	ATL1	ORPHA:100984
HP:0009053	Distal lower limb muscle weakness	10020	GNE	OMIM:605820
HP:0009053	Distal lower limb muscle weakness	3094	HINT1	ORPHA:324442
HP:0009053	Distal lower limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0009053	Distal lower limb muscle weakness	59341	TRPV4	OMIM:600175
HP:0009053	Distal lower limb muscle weakness	4137	MAPT	ORPHA:240094
HP:0009053	Distal lower limb muscle weakness	9782	MATR3	OMIM:606070
HP:0009053	Distal lower limb muscle weakness	7415	VCP	OMIM:616687
HP:0009053	Distal lower limb muscle weakness	7415	VCP	ORPHA:435387
HP:0009053	Distal lower limb muscle weakness	4311	MME	OMIM:617017
HP:0009053	Distal lower limb muscle weakness	4311	MME	ORPHA:497764
HP:0009053	Distal lower limb muscle weakness	4508	MT-ATP6	ORPHA:320360
HP:0009053	Distal lower limb muscle weakness	2617	GARS1	ORPHA:139536
HP:0009053	Distal lower limb muscle weakness	26580	BSCL2	ORPHA:139536
HP:0009053	Distal lower limb muscle weakness	26580	BSCL2	OMIM:619112
HP:0009053	Distal lower limb muscle weakness	65055	REEP1	ORPHA:139536
HP:0009053	Distal lower limb muscle weakness	11284	PNKP	ORPHA:459033
HP:0009053	Distal lower limb muscle weakness	55775	TDP1	ORPHA:94124
HP:0009053	Distal lower limb muscle weakness	4747	NEFL	OMIM:607684
HP:0009053	Distal lower limb muscle weakness	4747	NEFL	ORPHA:101085
HP:0009053	Distal lower limb muscle weakness	4000	LMNA	OMIM:181350
HP:0009053	Distal lower limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0009053	Distal lower limb muscle weakness	5339	PLEC	ORPHA:254361
HP:0009053	Distal lower limb muscle weakness	7879	RAB7A	OMIM:600882
HP:0009053	Distal lower limb muscle weakness	200205	IBA57	ORPHA:468661
HP:0009053	Distal lower limb muscle weakness	3714	JAG2	OMIM:619566
HP:0009053	Distal lower limb muscle weakness	6652	SORD	OMIM:618912
HP:0009053	Distal lower limb muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0009053	Distal lower limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0009053	Distal lower limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0009053	Distal lower limb muscle weakness	4625	MYH7	OMIM:160500
HP:0009053	Distal lower limb muscle weakness	4625	MYH7	ORPHA:437572
HP:0009053	Distal lower limb muscle weakness	3315	HSPB1	OMIM:608634
HP:0009053	Distal lower limb muscle weakness	122622	ADSS1	OMIM:617030
HP:0009053	Distal lower limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0009053	Distal lower limb muscle weakness	215	ABCD1	ORPHA:139399
HP:0009053	Distal lower limb muscle weakness	10908	PNPLA6	OMIM:612020
HP:0009053	Distal lower limb muscle weakness	7170	TPM3	OMIM:609284
HP:0009053	Distal lower limb muscle weakness	64856	VWA1	OMIM:619216
HP:0009053	Distal lower limb muscle weakness	54332	GDAP1	ORPHA:101097
HP:0009053	Distal lower limb muscle weakness	4547	MTTP	ORPHA:14
HP:0009053	Distal lower limb muscle weakness	8557	TCAP	OMIM:601954
HP:0009053	Distal lower limb muscle weakness	2705	GJB1	OMIM:302800
HP:0009053	Distal lower limb muscle weakness	547	KIF1A	OMIM:614213
HP:0009053	Distal lower limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0009053	Distal lower limb muscle weakness	8884	SLC5A6	OMIM:619903
HP:0009053	Distal lower limb muscle weakness	7453	WARS1	OMIM:617721
HP:0009053	Distal lower limb muscle weakness	55526	DHTKD1	OMIM:615025
HP:0009053	Distal lower limb muscle weakness	9131	AIFM1	OMIM:310490
HP:0009053	Distal lower limb muscle weakness	5376	PMP22	ORPHA:90658
HP:0009053	Distal lower limb muscle weakness	5376	PMP22	ORPHA:98916
HP:0009053	Distal lower limb muscle weakness	5376	PMP22	OMIM:145900
HP:0009053	Distal lower limb muscle weakness	121512	FGD4	OMIM:609311
HP:0009053	Distal lower limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0009053	Distal lower limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0009053	Distal lower limb muscle weakness	203859	ANO5	ORPHA:399096
HP:0009053	Distal lower limb muscle weakness	203859	ANO5	OMIM:613319
HP:0009053	Distal lower limb muscle weakness	203859	ANO5	ORPHA:206549
HP:0009053	Distal lower limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0009053	Distal lower limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0009053	Distal lower limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0009053	Distal lower limb muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0009053	Distal lower limb muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0009053	Distal lower limb muscle weakness	9990	SLC12A6	OMIM:620068
HP:0009053	Distal lower limb muscle weakness	1785	DNM2	OMIM:160150
HP:0009053	Distal lower limb muscle weakness	64419	MTMR14	OMIM:160150
HP:0009053	Distal lower limb muscle weakness	6305	SBF1	OMIM:615284
HP:0009053	Distal lower limb muscle weakness	5375	PMP2	OMIM:618279
HP:0009053	Distal lower limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0009053	Distal lower limb muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	4649	MYO9A	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	1305	COL13A1	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	1103	CHAT	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	6843	VAMP1	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	375790	AGRN	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	127833	SYT2	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	6616	SNAP25	ORPHA:98914
HP:0009053	Distal lower limb muscle weakness	26353	HSPB8	OMIM:158590
HP:0009053	Distal lower limb muscle weakness	7428	VHL	ORPHA:892
HP:0009053	Distal lower limb muscle weakness	595	CCND1	ORPHA:892
HP:0009053	Distal lower limb muscle weakness	23299	BICD2	OMIM:615290
HP:0009053	Distal lower limb muscle weakness	11117	EMILIN1	OMIM:620080
HP:0009053	Distal lower limb muscle weakness	1674	DES	ORPHA:98909
HP:0009053	Distal lower limb muscle weakness	80208	SPG11	OMIM:616668
HP:0009053	Distal lower limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0009053	Distal lower limb muscle weakness	57410	SCYL1	ORPHA:466794
HP:0009053	Distal lower limb muscle weakness	3098	HK1	ORPHA:99953
HP:0009053	Distal lower limb muscle weakness	3098	HK1	OMIM:605285
HP:0009053	Distal lower limb muscle weakness	126129	CPT1C	ORPHA:444099
HP:0009053	Distal lower limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0009053	Distal lower limb muscle weakness	23676	SMPX	OMIM:301075
HP:0009053	Distal lower limb muscle weakness	59345	GNB4	OMIM:615185
HP:0009053	Distal lower limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0009053	Distal lower limb muscle weakness	8291	DYSF	ORPHA:45448
HP:0009053	Distal lower limb muscle weakness	4359	MPZ	OMIM:145900
HP:0009053	Distal lower limb muscle weakness	1959	EGR2	OMIM:145900
HP:0009053	Distal lower limb muscle weakness	57716	PRX	OMIM:145900
HP:0009053	Distal lower limb muscle weakness	9927	MFN2	ORPHA:99947
HP:0009053	Distal lower limb muscle weakness	1757	SARDH	ORPHA:3129
HP:0009053	Distal lower limb muscle weakness	2218	FKTN	OMIM:611588
HP:0009053	Distal lower limb muscle weakness	2992	GYG1	OMIM:616199
HP:0003693	Distal amyotrophy	1311	COMP	OMIM:619161
HP:0003693	Distal amyotrophy	91252	SLC39A13	ORPHA:157965
HP:0003693	Distal amyotrophy	91252	SLC39A13	OMIM:612350
HP:0003693	Distal amyotrophy	8985	PLOD3	OMIM:612394
HP:0003693	Distal amyotrophy	5165	PDK3	ORPHA:352675
HP:0003693	Distal amyotrophy	4703	NEB	OMIM:256030
HP:0003693	Distal amyotrophy	3710	ITPR3	OMIM:620111
HP:0003693	Distal amyotrophy	3425	IDUA	OMIM:607015
HP:0003693	Distal amyotrophy	23064	SETX	OMIM:602433
HP:0003693	Distal amyotrophy	23064	SETX	OMIM:606002
HP:0003693	Distal amyotrophy	10749	KIF1C	ORPHA:397946
HP:0003693	Distal amyotrophy	10749	KIF1C	OMIM:611302
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:618184
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:180800
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607677
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607791
HP:0003693	Distal amyotrophy	4359	MPZ	ORPHA:3115
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:118200
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607736
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:145900
HP:0003693	Distal amyotrophy	7072	TIA1	OMIM:604454
HP:0003693	Distal amyotrophy	23111	SPART	OMIM:275900
HP:0003693	Distal amyotrophy	23111	SPART	ORPHA:101000
HP:0003693	Distal amyotrophy	10020	GNE	OMIM:605820
HP:0003693	Distal amyotrophy	23769	FLRT1	ORPHA:320406
HP:0003693	Distal amyotrophy	64837	KLC2	ORPHA:320406
HP:0003693	Distal amyotrophy	64837	KLC2	OMIM:609541
HP:0003693	Distal amyotrophy	4287	ATXN3	OMIM:109150
HP:0003693	Distal amyotrophy	91574	MTRFR	ORPHA:254930
HP:0003693	Distal amyotrophy	127833	SYT2	OMIM:616040
HP:0003693	Distal amyotrophy	127833	SYT2	ORPHA:98914
HP:0003693	Distal amyotrophy	6683	SPAST	ORPHA:100985
HP:0003693	Distal amyotrophy	112	ADCY6	OMIM:616287
HP:0003693	Distal amyotrophy	22880	MORC2	OMIM:616688
HP:0003693	Distal amyotrophy	22880	MORC2	ORPHA:466768
HP:0003693	Distal amyotrophy	4311	MME	OMIM:617018
HP:0003693	Distal amyotrophy	4311	MME	ORPHA:497764
HP:0003693	Distal amyotrophy	8291	DYSF	OMIM:254130
HP:0003693	Distal amyotrophy	50717	DCAF8	OMIM:610100
HP:0003693	Distal amyotrophy	57704	GBA2	ORPHA:352641
HP:0003693	Distal amyotrophy	19	ABCA1	OMIM:205400
HP:0003693	Distal amyotrophy	2617	GARS1	ORPHA:139536
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:619042
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:600794
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:601472
HP:0003693	Distal amyotrophy	65055	REEP1	ORPHA:139536
HP:0003693	Distal amyotrophy	65055	REEP1	OMIM:610250
HP:0003693	Distal amyotrophy	55775	TDP1	ORPHA:94124
HP:0003693	Distal amyotrophy	55775	TDP1	OMIM:607250
HP:0003693	Distal amyotrophy	10516	FBLN5	OMIM:608895
HP:0003693	Distal amyotrophy	7879	RAB7A	OMIM:600882
HP:0003693	Distal amyotrophy	200205	IBA57	ORPHA:468661
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:607678
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:605253
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:145900
HP:0003693	Distal amyotrophy	10743	RAI1	ORPHA:477817
HP:0003693	Distal amyotrophy	56704	JPH1	OMIM:607831
HP:0003693	Distal amyotrophy	10397	NDRG1	OMIM:601455
HP:0003693	Distal amyotrophy	55187	VPS13D	OMIM:607317
HP:0003693	Distal amyotrophy	538	ATP7A	OMIM:300489
HP:0003693	Distal amyotrophy	6311	ATXN2	OMIM:183090
HP:0003693	Distal amyotrophy	6905	TBCE	ORPHA:496756
HP:0003693	Distal amyotrophy	6905	TBCE	OMIM:617207
HP:0003693	Distal amyotrophy	80347	COASY	OMIM:615643
HP:0003693	Distal amyotrophy	90678	LRSAM1	OMIM:614436
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:275400
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:612020
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:215470
HP:0003693	Distal amyotrophy	3508	IGHMBP2	OMIM:604320
HP:0003693	Distal amyotrophy	81846	SBF2	OMIM:604563
HP:0003693	Distal amyotrophy	60482	SLC5A7	OMIM:158580
HP:0003693	Distal amyotrophy	60482	SLC5A7	ORPHA:98914
HP:0003693	Distal amyotrophy	547	KIF1A	ORPHA:101010
HP:0003693	Distal amyotrophy	4358	MPV17	OMIM:618400
HP:0003693	Distal amyotrophy	122622	ADSS1	OMIM:617030
HP:0003693	Distal amyotrophy	4704	NDUFA9	OMIM:618247
HP:0003693	Distal amyotrophy	55154	MSTO1	OMIM:617675
HP:0003693	Distal amyotrophy	55906	ZC4H2	OMIM:314580
HP:0003693	Distal amyotrophy	55906	ZC4H2	ORPHA:3454
HP:0003693	Distal amyotrophy	57449	PLEKHG5	OMIM:615376
HP:0003693	Distal amyotrophy	57449	PLEKHG5	OMIM:611067
HP:0003693	Distal amyotrophy	5631	PRPS1	OMIM:311070
HP:0003693	Distal amyotrophy	91137	SLC25A46	OMIM:616505
HP:0003693	Distal amyotrophy	3035	HARS1	OMIM:616625
HP:0003693	Distal amyotrophy	29967	LRP12	OMIM:164310
HP:0003693	Distal amyotrophy	4361	MRE11	OMIM:604391
HP:0003693	Distal amyotrophy	80208	SPG11	OMIM:602099
HP:0003693	Distal amyotrophy	80208	SPG11	ORPHA:2822
HP:0003693	Distal amyotrophy	80208	SPG11	ORPHA:300605
HP:0003693	Distal amyotrophy	9499	MYOT	OMIM:609200
HP:0003693	Distal amyotrophy	9499	MYOT	ORPHA:98911
HP:0003693	Distal amyotrophy	10939	AFG3L2	ORPHA:313772
HP:0003693	Distal amyotrophy	10939	AFG3L2	OMIM:614487
HP:0003693	Distal amyotrophy	9217	VAPB	OMIM:608627
HP:0003693	Distal amyotrophy	9217	VAPB	OMIM:182980
HP:0003693	Distal amyotrophy	26278	SACS	ORPHA:98
HP:0003693	Distal amyotrophy	26278	SACS	OMIM:270550
HP:0003693	Distal amyotrophy	51651	PTRH2	ORPHA:456312
HP:0003693	Distal amyotrophy	84892	POMGNT2	OMIM:618135
HP:0003693	Distal amyotrophy	83636	C19orf12	OMIM:614298
HP:0003693	Distal amyotrophy	83636	C19orf12	OMIM:615043
HP:0003693	Distal amyotrophy	26090	ABHD12	OMIM:612674
HP:0003693	Distal amyotrophy	23230	VPS13A	ORPHA:2388
HP:0003693	Distal amyotrophy	88	ACTN2	OMIM:618655
HP:0003693	Distal amyotrophy	54840	APTX	OMIM:208920
HP:0003693	Distal amyotrophy	9927	MFN2	OMIM:601152
HP:0003693	Distal amyotrophy	9927	MFN2	OMIM:609260
HP:0003693	Distal amyotrophy	10558	SPTLC1	ORPHA:36386
HP:0003693	Distal amyotrophy	10558	SPTLC1	ORPHA:300605
HP:0003693	Distal amyotrophy	25923	ATL3	ORPHA:36386
HP:0003693	Distal amyotrophy	9517	SPTLC2	ORPHA:36386
HP:0003693	Distal amyotrophy	51062	ATL1	ORPHA:36386
HP:0003693	Distal amyotrophy	11284	PNKP	OMIM:605589
HP:0003693	Distal amyotrophy	81857	MED25	OMIM:605589
HP:0003693	Distal amyotrophy	65260	COA7	OMIM:618387
HP:0003693	Distal amyotrophy	203859	ANO5	ORPHA:399096
HP:0003693	Distal amyotrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003693	Distal amyotrophy	5255	PHKA1	OMIM:300559
HP:0003693	Distal amyotrophy	22948	CCT5	ORPHA:139578
HP:0003693	Distal amyotrophy	22948	CCT5	OMIM:256840
HP:0003693	Distal amyotrophy	1593	CYP27A1	ORPHA:909
HP:0003693	Distal amyotrophy	57863	CADM3	OMIM:619519
HP:0003693	Distal amyotrophy	1890	TYMP	OMIM:603041
HP:0003693	Distal amyotrophy	5428	POLG	OMIM:603041
HP:0003693	Distal amyotrophy	6606	SMN1	OMIM:253400
HP:0003693	Distal amyotrophy	6607	SMN2	OMIM:253400
HP:0003693	Distal amyotrophy	8898	MTMR2	OMIM:601382
HP:0003693	Distal amyotrophy	23503	ZFYVE26	OMIM:270700
HP:0003693	Distal amyotrophy	23503	ZFYVE26	ORPHA:100996
HP:0003693	Distal amyotrophy	55210	ATAD3A	OMIM:617183
HP:0003693	Distal amyotrophy	26137	ZBTB20	OMIM:259050
HP:0003693	Distal amyotrophy	2521	FUS	ORPHA:300605
HP:0003693	Distal amyotrophy	10280	SIGMAR1	ORPHA:300605
HP:0003693	Distal amyotrophy	10280	SIGMAR1	OMIM:605726
HP:0003693	Distal amyotrophy	476	ATP1A1	OMIM:618036
HP:0003693	Distal amyotrophy	5375	PMP2	OMIM:618279
HP:0003693	Distal amyotrophy	23095	KIF1B	OMIM:118210
HP:0003693	Distal amyotrophy	5192	PEX10	OMIM:614871
HP:0003693	Distal amyotrophy	4649	MYO9A	ORPHA:98914
HP:0003693	Distal amyotrophy	1305	COL13A1	ORPHA:98914
HP:0003693	Distal amyotrophy	1103	CHAT	ORPHA:98914
HP:0003693	Distal amyotrophy	6576	SLC25A1	ORPHA:98914
HP:0003693	Distal amyotrophy	6843	VAMP1	ORPHA:98914
HP:0003693	Distal amyotrophy	375790	AGRN	ORPHA:98914
HP:0003693	Distal amyotrophy	6572	SLC18A3	ORPHA:98914
HP:0003693	Distal amyotrophy	6616	SNAP25	ORPHA:98914
HP:0003693	Distal amyotrophy	11261	CHP1	OMIM:618438
HP:0003693	Distal amyotrophy	5832	ALDH18A1	OMIM:219150
HP:0003693	Distal amyotrophy	7443	VRK1	OMIM:607596
HP:0003693	Distal amyotrophy	6663	SOX10	OMIM:609136
HP:0003693	Distal amyotrophy	8565	YARS1	OMIM:608323
HP:0003693	Distal amyotrophy	56652	TWNK	OMIM:271245
HP:0003693	Distal amyotrophy	9516	LITAF	OMIM:601098
HP:0003693	Distal amyotrophy	9147	NEMF	OMIM:619099
HP:0003693	Distal amyotrophy	178	AGL	OMIM:232400
HP:0003693	Distal amyotrophy	10273	STUB1	ORPHA:412057
HP:0003693	Distal amyotrophy	6389	SDHA	ORPHA:3208
HP:0003693	Distal amyotrophy	6390	SDHB	ORPHA:3208
HP:0003693	Distal amyotrophy	6392	SDHD	ORPHA:3208
HP:0003693	Distal amyotrophy	644096	SDHAF1	ORPHA:3208
HP:0003693	Distal amyotrophy	283	ANG	OMIM:611895
HP:0003693	Distal amyotrophy	79784	MYH14	OMIM:614369
HP:0003693	Distal amyotrophy	23533	PIK3R5	OMIM:615217
HP:0003693	Distal amyotrophy	57731	SPTBN4	OMIM:617519
HP:0003693	Distal amyotrophy	26353	HSPB8	OMIM:608673
HP:0003693	Distal amyotrophy	3098	HK1	ORPHA:99953
HP:0003693	Distal amyotrophy	8139	GAN	OMIM:256850
HP:0003693	Distal amyotrophy	79628	SH3TC2	OMIM:601596
HP:0003693	Distal amyotrophy	79628	SH3TC2	ORPHA:99949
HP:0003693	Distal amyotrophy	57716	PRX	OMIM:614895
HP:0003693	Distal amyotrophy	57716	PRX	OMIM:145900
HP:0003693	Distal amyotrophy	6310	ATXN1	OMIM:164400
HP:0003693	Distal amyotrophy	1785	DNM2	OMIM:606482
HP:0003693	Distal amyotrophy	285489	DOK7	OMIM:254300
HP:0003693	Distal amyotrophy	8729	GBF1	OMIM:606483
HP:0003693	Distal amyotrophy	59345	GNB4	OMIM:615185
HP:0003693	Distal amyotrophy	7143	TNR	OMIM:619653
HP:0003693	Distal amyotrophy	65250	CPLANE1	ORPHA:65684
HP:0003693	Distal amyotrophy	57562	CEP126	ORPHA:65684
HP:0003693	Distal amyotrophy	2705	GJB1	OMIM:302800
HP:0003693	Distal amyotrophy	2705	GJB1	ORPHA:101075
HP:0003693	Distal amyotrophy	2318	FLNC	OMIM:614065
HP:0003693	Distal amyotrophy	8988	HSPB3	OMIM:613376
HP:0003693	Distal amyotrophy	64423	INF2	OMIM:614455
HP:0003693	Distal amyotrophy	7453	WARS1	OMIM:617721
HP:0003693	Distal amyotrophy	8878	SQSTM1	ORPHA:603
HP:0003693	Distal amyotrophy	9990	SLC12A6	OMIM:620068
HP:0003693	Distal amyotrophy	9782	MATR3	ORPHA:600
HP:0003693	Distal amyotrophy	10755	GIPC1	ORPHA:98897
HP:0003693	Distal amyotrophy	8884	SLC5A6	OMIM:619903
HP:0003693	Distal amyotrophy	26092	TOR1AIP1	OMIM:617072
HP:0003693	Distal amyotrophy	7528	YY1	ORPHA:506358
HP:0003693	Distal amyotrophy	23299	BICD2	ORPHA:363454
HP:0003693	Distal amyotrophy	8450	CUL4B	OMIM:300354
HP:0003693	Distal amyotrophy	4099	MAG	OMIM:616680
HP:0003693	Distal amyotrophy	4099	MAG	ORPHA:459056
HP:0003693	Distal amyotrophy	3315	HSPB1	OMIM:606595
HP:0003693	Distal amyotrophy	3315	HSPB1	ORPHA:99940
HP:0003693	Distal amyotrophy	8242	KDM5C	OMIM:300534
HP:0003693	Distal amyotrophy	3300	DNAJB2	OMIM:614881
HP:0003693	Distal amyotrophy	7170	TPM3	OMIM:609284
HP:0003693	Distal amyotrophy	4556	MT-TE	ORPHA:2596
HP:0003693	Distal amyotrophy	126129	CPT1C	ORPHA:444099
HP:0003693	Distal amyotrophy	3798	KIF5A	ORPHA:100991
HP:0003693	Distal amyotrophy	8557	TCAP	OMIM:601954
HP:0003693	Distal amyotrophy	16	AARS1	OMIM:613287
HP:0003693	Distal amyotrophy	9131	AIFM1	OMIM:310490
HP:0003693	Distal amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0003693	Distal amyotrophy	3852	KRT5	ORPHA:79396
HP:0003693	Distal amyotrophy	3861	KRT14	ORPHA:79396
HP:0003693	Distal amyotrophy	121512	FGD4	OMIM:609311
HP:0003693	Distal amyotrophy	55768	NGLY1	OMIM:615273
HP:0003693	Distal amyotrophy	23321	TRIM2	OMIM:615490
HP:0003693	Distal amyotrophy	182	JAG1	OMIM:619574
HP:0003693	Distal amyotrophy	859	CAV3	OMIM:614321
HP:0003693	Distal amyotrophy	859	CAV3	ORPHA:488650
HP:0003693	Distal amyotrophy	374969	SVBP	OMIM:618569
HP:0003693	Distal amyotrophy	1678	TIMM8A	OMIM:304700
HP:0003693	Distal amyotrophy	55958	KLHL9	ORPHA:399081
HP:0003693	Distal amyotrophy	400916	CHCHD10	ORPHA:276435
HP:0003693	Distal amyotrophy	11155	LDB3	ORPHA:98912
HP:0003693	Distal amyotrophy	427	ASAH1	OMIM:159950
HP:0003693	Distal amyotrophy	1134	CHRNA1	OMIM:601462
HP:0003693	Distal amyotrophy	4141	MARS1	OMIM:616280
HP:0003693	Distal amyotrophy	284058	KANSL1	ORPHA:363965
HP:0003693	Distal amyotrophy	284058	KANSL1	ORPHA:363958
HP:0003693	Distal amyotrophy	3094	HINT1	ORPHA:324442
HP:0003693	Distal amyotrophy	26580	BSCL2	ORPHA:100998
HP:0003693	Distal amyotrophy	57679	ALS2	OMIM:205100
HP:0003693	Distal amyotrophy	7415	VCP	ORPHA:435387
HP:0003693	Distal amyotrophy	59341	TRPV4	OMIM:606071
HP:0003693	Distal amyotrophy	80199	FUZ	ORPHA:1136
HP:0003693	Distal amyotrophy	58	ACTA1	OMIM:616852
HP:0003693	Distal amyotrophy	10342	TFG	OMIM:615658
HP:0003693	Distal amyotrophy	5376	PMP22	ORPHA:90658
HP:0003693	Distal amyotrophy	89874	SLC25A21	OMIM:618811
HP:0003693	Distal amyotrophy	54332	GDAP1	ORPHA:99944
HP:0003693	Distal amyotrophy	1639	DCTN1	OMIM:607641
HP:0003693	Distal amyotrophy	4000	LMNA	ORPHA:98856
HP:0003693	Distal amyotrophy	4747	NEFL	OMIM:607684
HP:0003693	Distal amyotrophy	4747	NEFL	ORPHA:101085
HP:0003693	Distal amyotrophy	113278	SLC52A3	OMIM:211530
HP:0003693	Distal amyotrophy	2395	FXN	ORPHA:95
HP:0003693	Distal amyotrophy	6261	RYR1	ORPHA:98905
HP:0003693	Distal amyotrophy	4625	MYH7	OMIM:160500
HP:0003487	Babinski sign	10749	KIF1C	ORPHA:397946
HP:0003487	Babinski sign	10749	KIF1C	OMIM:611302
HP:0003487	Babinski sign	85465	SELENOI	ORPHA:506353
HP:0003487	Babinski sign	85465	SELENOI	OMIM:618768
HP:0003487	Babinski sign	3064	HTT	ORPHA:399
HP:0003487	Babinski sign	6515	SLC2A3	ORPHA:399
HP:0003487	Babinski sign	4287	ATXN3	OMIM:109150
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276238
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276244
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276241
HP:0003487	Babinski sign	4099	MAG	OMIM:616680
HP:0003487	Babinski sign	4099	MAG	ORPHA:459056
HP:0003487	Babinski sign	10159	ATP6AP2	OMIM:300911
HP:0003487	Babinski sign	10159	ATP6AP2	ORPHA:93952
HP:0003487	Babinski sign	10159	ATP6AP2	OMIM:300423
HP:0003487	Babinski sign	10159	ATP6AP2	ORPHA:363654
HP:0003487	Babinski sign	9853	RUSC2	OMIM:617773
HP:0003487	Babinski sign	23446	SLC44A1	OMIM:618868
HP:0003487	Babinski sign	6873	TAF2	OMIM:615599
HP:0003487	Babinski sign	6873	TAF2	ORPHA:397951
HP:0003487	Babinski sign	2895	GRID2	OMIM:616204
HP:0003487	Babinski sign	22880	MORC2	OMIM:616688
HP:0003487	Babinski sign	22880	MORC2	OMIM:619090
HP:0003487	Babinski sign	22880	MORC2	ORPHA:466768
HP:0003487	Babinski sign	1786	DNMT1	ORPHA:314404
HP:0003487	Babinski sign	6687	SPG7	ORPHA:99013
HP:0003487	Babinski sign	6687	SPG7	OMIM:607259
HP:0003487	Babinski sign	6687	SPG7	ORPHA:35689
HP:0003487	Babinski sign	5354	PLP1	ORPHA:99015
HP:0003487	Babinski sign	5354	PLP1	ORPHA:280229
HP:0003487	Babinski sign	5354	PLP1	OMIM:312920
HP:0003487	Babinski sign	57165	GJC2	OMIM:608804
HP:0003487	Babinski sign	57165	GJC2	OMIM:613206
HP:0003487	Babinski sign	10908	PNPLA6	ORPHA:139480
HP:0003487	Babinski sign	10908	PNPLA6	OMIM:612020
HP:0003487	Babinski sign	8722	CTSF	OMIM:615362
HP:0003487	Babinski sign	200205	IBA57	OMIM:616451
HP:0003487	Babinski sign	200205	IBA57	ORPHA:468661
HP:0003487	Babinski sign	10528	NOP56	OMIM:614153
HP:0003487	Babinski sign	10528	NOP56	ORPHA:276198
HP:0003487	Babinski sign	1841	DTYMK	OMIM:619847
HP:0003487	Babinski sign	2670	GFAP	OMIM:203450
HP:0003487	Babinski sign	2670	GFAP	ORPHA:363722
HP:0003487	Babinski sign	57156	TMEM63C	OMIM:619966
HP:0003487	Babinski sign	57231	SNX14	ORPHA:397709
HP:0003487	Babinski sign	57231	SNX14	OMIM:616354
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:314632
HP:0003487	Babinski sign	23400	ATP13A2	OMIM:617225
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:513436
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:306674
HP:0003487	Babinski sign	23400	ATP13A2	OMIM:606693
HP:0003487	Babinski sign	410	ARSA	ORPHA:309271
HP:0003487	Babinski sign	410	ARSA	ORPHA:309263
HP:0003487	Babinski sign	410	ARSA	OMIM:250100
HP:0003487	Babinski sign	410	ARSA	ORPHA:309256
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309271
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309263
HP:0003487	Babinski sign	5660	PSAP	OMIM:611721
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309256
HP:0003487	Babinski sign	5660	PSAP	OMIM:249900
HP:0003487	Babinski sign	219285	SAMD9L	OMIM:159550
HP:0003487	Babinski sign	219285	SAMD9L	OMIM:619806
HP:0003487	Babinski sign	9289	ADGRG1	OMIM:606854
HP:0003487	Babinski sign	348	APOE	OMIM:607822
HP:0003487	Babinski sign	5663	PSEN1	OMIM:607822
HP:0003487	Babinski sign	7345	UCHL1	OMIM:615491
HP:0003487	Babinski sign	5832	ALDH18A1	OMIM:616586
HP:0003487	Babinski sign	5832	ALDH18A1	OMIM:601162
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447757
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447753
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447760
HP:0003487	Babinski sign	215	ABCD1	ORPHA:139399
HP:0003487	Babinski sign	64834	ELOVL1	OMIM:618527
HP:0003487	Babinski sign	311	ANXA11	OMIM:619733
HP:0003487	Babinski sign	7920	ABHD16A	OMIM:619735
HP:0003487	Babinski sign	8560	DEGS1	OMIM:618404
HP:0003487	Babinski sign	2074	ERCC6	OMIM:278800
HP:0003487	Babinski sign	343641	TGM6	ORPHA:276193
HP:0003487	Babinski sign	343641	TGM6	OMIM:613908
HP:0003487	Babinski sign	857	CAV1	OMIM:606721
HP:0003487	Babinski sign	55149	MTPAP	ORPHA:254343
HP:0003487	Babinski sign	55149	MTPAP	OMIM:613672
HP:0003487	Babinski sign	5297	PI4KA	OMIM:619621
HP:0003487	Babinski sign	55703	POLR3B	OMIM:619742
HP:0003487	Babinski sign	55703	POLR3B	OMIM:607694
HP:0003487	Babinski sign	83636	C19orf12	OMIM:614298
HP:0003487	Babinski sign	83636	C19orf12	OMIM:615043
HP:0003487	Babinski sign	5833	PCYT2	OMIM:618770
HP:0003487	Babinski sign	246243	RNASEH1	OMIM:616479
HP:0003487	Babinski sign	51271	UBAP1	OMIM:618418
HP:0003487	Babinski sign	51271	UBAP1	ORPHA:100993
HP:0003487	Babinski sign	492	ATP2B3	ORPHA:314978
HP:0003487	Babinski sign	9897	WASHC5	OMIM:603563
HP:0003487	Babinski sign	9897	WASHC5	ORPHA:100989
HP:0003487	Babinski sign	113612	CYP2U1	OMIM:615030
HP:0003487	Babinski sign	113612	CYP2U1	ORPHA:320411
HP:0003487	Babinski sign	10717	AP4B1	OMIM:614066
HP:0003487	Babinski sign	10717	AP4B1	ORPHA:280763
HP:0003487	Babinski sign	91574	MTRFR	OMIM:615035
HP:0003487	Babinski sign	91574	MTRFR	ORPHA:320375
HP:0003487	Babinski sign	51604	PIGT	OMIM:615398
HP:0003487	Babinski sign	11154	AP4S1	OMIM:614067
HP:0003487	Babinski sign	11154	AP4S1	ORPHA:280763
HP:0003487	Babinski sign	23259	DDHD2	OMIM:615033
HP:0003487	Babinski sign	54902	TTC19	OMIM:615157
HP:0003487	Babinski sign	4191	MDH2	OMIM:617339
HP:0003487	Babinski sign	23474	ETHE1	OMIM:602473
HP:0003487	Babinski sign	1615	DARS1	OMIM:615281
HP:0003487	Babinski sign	7358	UGDH	OMIM:618792
HP:0003487	Babinski sign	9474	ATG5	OMIM:617584
HP:0003487	Babinski sign	6506	SLC1A2	OMIM:617105
HP:0003487	Babinski sign	25973	PARS2	OMIM:618437
HP:0003487	Babinski sign	11261	CHP1	OMIM:618438
HP:0003487	Babinski sign	10667	FARS2	ORPHA:466722
HP:0003487	Babinski sign	10667	FARS2	OMIM:617046
HP:0003487	Babinski sign	56652	TWNK	OMIM:271245
HP:0003487	Babinski sign	56652	TWNK	OMIM:607459
HP:0003487	Babinski sign	10280	SIGMAR1	OMIM:605726
HP:0003487	Babinski sign	23299	BICD2	OMIM:615290
HP:0003487	Babinski sign	5981	RFC1	ORPHA:504476
HP:0003487	Babinski sign	5917	RARS1	OMIM:616140
HP:0003487	Babinski sign	339855	KY	ORPHA:496689
HP:0003487	Babinski sign	2395	FXN	OMIM:229300
HP:0003487	Babinski sign	2395	FXN	ORPHA:95
HP:0003487	Babinski sign	57679	ALS2	OMIM:205100
HP:0003487	Babinski sign	57679	ALS2	OMIM:607225
HP:0003487	Babinski sign	57679	ALS2	OMIM:606353
HP:0003487	Babinski sign	9725	TMEM63A	OMIM:618688
HP:0003487	Babinski sign	6683	SPAST	OMIM:182601
HP:0003487	Babinski sign	6683	SPAST	ORPHA:100985
HP:0003487	Babinski sign	51062	ATL1	OMIM:182600
HP:0003487	Babinski sign	51062	ATL1	ORPHA:100984
HP:0003487	Babinski sign	6843	VAMP1	ORPHA:251282
HP:0003487	Babinski sign	57192	MCOLN1	OMIM:252650
HP:0003487	Babinski sign	5654	HTRA1	OMIM:600142
HP:0003487	Babinski sign	2512	FTL	ORPHA:157846
HP:0003487	Babinski sign	2512	FTL	OMIM:606159
HP:0003487	Babinski sign	54344	DPM3	ORPHA:263494
HP:0003487	Babinski sign	3658	IREB2	OMIM:618451
HP:0003487	Babinski sign	55280	CWF19L1	ORPHA:453521
HP:0003487	Babinski sign	2583	B4GALNT1	OMIM:609195
HP:0003487	Babinski sign	2583	B4GALNT1	ORPHA:101006
HP:0003487	Babinski sign	5277	PIGA	OMIM:301072
HP:0003487	Babinski sign	4001	LMNB1	ORPHA:99027
HP:0003487	Babinski sign	4001	LMNB1	OMIM:169500
HP:0003487	Babinski sign	23064	SETX	OMIM:602433
HP:0003487	Babinski sign	23064	SETX	ORPHA:64753
HP:0003487	Babinski sign	23064	SETX	ORPHA:357043
HP:0003487	Babinski sign	23111	SPART	OMIM:275900
HP:0003487	Babinski sign	23111	SPART	ORPHA:101000
HP:0003487	Babinski sign	126129	CPT1C	OMIM:616282
HP:0003487	Babinski sign	126129	CPT1C	ORPHA:444099
HP:0003487	Babinski sign	23516	SLC39A14	OMIM:617013
HP:0003487	Babinski sign	23516	SLC39A14	ORPHA:521406
HP:0003487	Babinski sign	23345	SYNE1	ORPHA:88644
HP:0003487	Babinski sign	4719	NDUFS1	OMIM:618226
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:320360
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:225154
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:644
HP:0003487	Babinski sign	5428	POLG	OMIM:258450
HP:0003487	Babinski sign	5428	POLG	OMIM:607459
HP:0003487	Babinski sign	9256	TSPOAP1	ORPHA:101150
HP:0003487	Babinski sign	7054	TH	ORPHA:101150
HP:0003487	Babinski sign	27235	COQ2	OMIM:146500
HP:0003487	Babinski sign	11160	ERLIN2	ORPHA:209951
HP:0003487	Babinski sign	11160	ERLIN2	OMIM:611225
HP:0003487	Babinski sign	123606	NIPA1	OMIM:600363
HP:0003487	Babinski sign	123606	NIPA1	ORPHA:100988
HP:0003487	Babinski sign	5631	PRPS1	ORPHA:423479
HP:0003487	Babinski sign	6567	SLC16A2	OMIM:300523
HP:0003487	Babinski sign	6567	SLC16A2	ORPHA:59
HP:0003487	Babinski sign	81790	RNF170	OMIM:619686
HP:0003487	Babinski sign	81790	RNF170	OMIM:608984
HP:0003487	Babinski sign	23114	NFASC	OMIM:618356
HP:0003487	Babinski sign	5610	EIF2AK2	OMIM:619687
HP:0003487	Babinski sign	6647	SOD1	OMIM:618598
HP:0003487	Babinski sign	25814	ATXN10	OMIM:603516
HP:0003487	Babinski sign	25814	ATXN10	ORPHA:98761
HP:0003487	Babinski sign	116461	TSEN15	OMIM:617026
HP:0003487	Babinski sign	116461	TSEN15	ORPHA:2524
HP:0003487	Babinski sign	8492	PRSS12	OMIM:249500
HP:0003487	Babinski sign	443	ASPA	ORPHA:314918
HP:0003487	Babinski sign	443	ASPA	ORPHA:314911
HP:0003487	Babinski sign	5010	CLDN11	OMIM:619328
HP:0003487	Babinski sign	2581	GALC	ORPHA:206448
HP:0003487	Babinski sign	9179	AP4M1	OMIM:612936
HP:0003487	Babinski sign	9179	AP4M1	ORPHA:280763
HP:0003487	Babinski sign	16	AARS1	OMIM:619691
HP:0003487	Babinski sign	547	KIF1A	ORPHA:101010
HP:0003487	Babinski sign	547	KIF1A	OMIM:610357
HP:0003487	Babinski sign	547	KIF1A	OMIM:614255
HP:0003487	Babinski sign	84340	GFM2	ORPHA:565624
HP:0003487	Babinski sign	84340	GFM2	OMIM:618397
HP:0003487	Babinski sign	8878	SQSTM1	OMIM:617158
HP:0003487	Babinski sign	8878	SQSTM1	ORPHA:275872
HP:0003487	Babinski sign	4125	MAN2B1	OMIM:248500
HP:0003487	Babinski sign	80224	NUBPL	OMIM:618242
HP:0003487	Babinski sign	4547	MTTP	ORPHA:14
HP:0003487	Babinski sign	51102	MECR	OMIM:617282
HP:0003487	Babinski sign	5611	DNAJC3	OMIM:616192
HP:0003487	Babinski sign	5611	DNAJC3	ORPHA:445062
HP:0003487	Babinski sign	80821	DDHD1	ORPHA:101008
HP:0003487	Babinski sign	80821	DDHD1	OMIM:609340
HP:0003487	Babinski sign	2705	GJB1	OMIM:302800
HP:0003487	Babinski sign	2705	GJB1	ORPHA:1175
HP:0003487	Babinski sign	1200	TPP1	OMIM:609270
HP:0003487	Babinski sign	1200	TPP1	ORPHA:284324
HP:0003487	Babinski sign	84668	HYCC1	OMIM:610532
HP:0003487	Babinski sign	87178	PNPT1	ORPHA:101111
HP:0003487	Babinski sign	87178	PNPT1	OMIM:608703
HP:0003487	Babinski sign	1938	EEF2	ORPHA:101112
HP:0003487	Babinski sign	9197	SLC33A1	ORPHA:171863
HP:0003487	Babinski sign	9197	SLC33A1	OMIM:612539
HP:0003487	Babinski sign	2892	GRIA3	ORPHA:364028
HP:0003487	Babinski sign	26580	BSCL2	OMIM:619112
HP:0003487	Babinski sign	26580	BSCL2	OMIM:270685
HP:0003487	Babinski sign	26580	BSCL2	ORPHA:100998
HP:0003487	Babinski sign	9927	MFN2	OMIM:609260
HP:0003487	Babinski sign	9927	MFN2	ORPHA:99947
HP:0003487	Babinski sign	3839	KPNA3	OMIM:620106
HP:0003487	Babinski sign	3839	KPNA3	ORPHA:171612
HP:0003487	Babinski sign	538	ATP7A	OMIM:309400
HP:0003487	Babinski sign	3032	HADHB	ORPHA:746
HP:0003487	Babinski sign	3030	HADHA	ORPHA:746
HP:0003487	Babinski sign	22978	NT5C2	ORPHA:320396
HP:0003487	Babinski sign	22978	NT5C2	OMIM:613162
HP:0003487	Babinski sign	5375	PMP2	OMIM:618279
HP:0003487	Babinski sign	6472	SHMT2	OMIM:619121
HP:0003487	Babinski sign	6253	RTN2	OMIM:604805
HP:0003487	Babinski sign	6253	RTN2	ORPHA:100993
HP:0003487	Babinski sign	5173	PDYN	ORPHA:101108
HP:0003487	Babinski sign	5173	PDYN	OMIM:610245
HP:0003487	Babinski sign	10939	AFG3L2	ORPHA:101109
HP:0003487	Babinski sign	10939	AFG3L2	OMIM:610246
HP:0003487	Babinski sign	79152	FA2H	ORPHA:171629
HP:0003487	Babinski sign	79152	FA2H	OMIM:612319
HP:0003487	Babinski sign	57704	GBA2	ORPHA:320391
HP:0003487	Babinski sign	57704	GBA2	OMIM:614409
HP:0003487	Babinski sign	57704	GBA2	ORPHA:352641
HP:0003487	Babinski sign	26278	SACS	OMIM:270550
HP:0003487	Babinski sign	26278	SACS	ORPHA:98
HP:0003487	Babinski sign	25978	CHMP2B	OMIM:600795
HP:0003487	Babinski sign	23636	NUP62	ORPHA:225154
HP:0003487	Babinski sign	103	ADAR	ORPHA:225154
HP:0003487	Babinski sign	6389	SDHA	OMIM:619259
HP:0003487	Babinski sign	6389	SDHA	ORPHA:3208
HP:0003487	Babinski sign	6389	SDHA	OMIM:252011
HP:0003487	Babinski sign	3739	KCNA4	OMIM:618284
HP:0003487	Babinski sign	7415	VCP	OMIM:613954
HP:0003487	Babinski sign	7415	VCP	ORPHA:275872
HP:0003487	Babinski sign	7415	VCP	ORPHA:329475
HP:0003487	Babinski sign	124454	EARS2	OMIM:614924
HP:0003487	Babinski sign	8139	GAN	ORPHA:643
HP:0003487	Babinski sign	54936	ADPRS	OMIM:618170
HP:0003487	Babinski sign	1678	TIMM8A	ORPHA:52368
HP:0003487	Babinski sign	84842	HPDL	OMIM:619027
HP:0003487	Babinski sign	25793	FBXO7	OMIM:260300
HP:0003487	Babinski sign	25793	FBXO7	ORPHA:171695
HP:0003487	Babinski sign	8398	PLA2G6	OMIM:610217
HP:0003487	Babinski sign	55129	ANO10	OMIM:613728
HP:0003487	Babinski sign	5621	PRNP	ORPHA:282166
HP:0003487	Babinski sign	2643	GCH1	OMIM:128230
HP:0003487	Babinski sign	2643	GCH1	ORPHA:98808
HP:0003487	Babinski sign	9131	AIFM1	OMIM:300232
HP:0003487	Babinski sign	9131	AIFM1	ORPHA:83629
HP:0003487	Babinski sign	8506	CNTNAP1	OMIM:618186
HP:0003487	Babinski sign	400916	CHCHD10	OMIM:615911
HP:0003487	Babinski sign	400916	CHCHD10	ORPHA:275872
HP:0003487	Babinski sign	1593	CYP27A1	OMIM:213700
HP:0003487	Babinski sign	1593	CYP27A1	ORPHA:909
HP:0003487	Babinski sign	2521	FUS	ORPHA:275872
HP:0003487	Babinski sign	23435	TARDBP	ORPHA:275872
HP:0003487	Babinski sign	23435	TARDBP	OMIM:612069
HP:0003487	Babinski sign	29110	TBK1	ORPHA:275872
HP:0003487	Babinski sign	54209	TREM2	OMIM:618193
HP:0003487	Babinski sign	51218	GLRX5	ORPHA:401866
HP:0003487	Babinski sign	51218	GLRX5	OMIM:616859
HP:0003487	Babinski sign	51506	UFC1	OMIM:618076
HP:0003487	Babinski sign	6311	ATXN2	OMIM:183090
HP:0003487	Babinski sign	80055	PGAP1	OMIM:615802
HP:0003487	Babinski sign	80055	PGAP1	ORPHA:401820
HP:0003487	Babinski sign	23431	AP4E1	OMIM:613744
HP:0003487	Babinski sign	23431	AP4E1	ORPHA:280763
HP:0003487	Babinski sign	25778	DSTYK	OMIM:270750
HP:0003487	Babinski sign	51324	SPG21	OMIM:248900
HP:0003487	Babinski sign	116228	COX20	OMIM:619054
HP:0003487	Babinski sign	64207	IRF2BPL	OMIM:618088
HP:0003487	Babinski sign	118813	ZFYVE27	OMIM:610244
HP:0003487	Babinski sign	55157	DARS2	ORPHA:137898
HP:0003487	Babinski sign	55157	DARS2	OMIM:611105
HP:0003487	Babinski sign	823	CAPN1	OMIM:616907
HP:0003487	Babinski sign	823	CAPN1	ORPHA:488594
HP:0003487	Babinski sign	10273	STUB1	OMIM:618093
HP:0003487	Babinski sign	10273	STUB1	OMIM:615768
HP:0003487	Babinski sign	22	ABCB7	OMIM:301310
HP:0003487	Babinski sign	100303755	PET117	OMIM:619063
HP:0003487	Babinski sign	4697	NDUFA4	OMIM:619065
HP:0003487	Babinski sign	65055	REEP1	OMIM:610250
HP:0003487	Babinski sign	26090	ABHD12	OMIM:612674
HP:0003487	Babinski sign	144165	PRICKLE1	OMIM:612437
HP:0003487	Babinski sign	5376	PMP22	ORPHA:3115
HP:0003487	Babinski sign	4359	MPZ	ORPHA:3115
HP:0003487	Babinski sign	1267	CNP	OMIM:619071
HP:0003487	Babinski sign	23533	PIK3R5	ORPHA:64753
HP:0003487	Babinski sign	4744	NEFH	OMIM:616924
HP:0003487	Babinski sign	90624	LYRM7	OMIM:615838
HP:0003487	Babinski sign	1282	COL4A1	OMIM:175780
HP:0003487	Babinski sign	64837	KLC2	OMIM:609541
HP:0003487	Babinski sign	80704	SLC19A3	OMIM:607483
HP:0003487	Babinski sign	80025	PANK2	OMIM:234200
HP:0003487	Babinski sign	11128	POLR3A	ORPHA:447896
HP:0003487	Babinski sign	11128	POLR3A	OMIM:607694
HP:0003487	Babinski sign	23503	ZFYVE26	OMIM:270700
HP:0003487	Babinski sign	23503	ZFYVE26	ORPHA:100996
HP:0003487	Babinski sign	9409	PEX16	OMIM:614877
HP:0003487	Babinski sign	773	CACNA1A	ORPHA:98758
HP:0003487	Babinski sign	8242	KDM5C	OMIM:300534
HP:0003487	Babinski sign	6390	SDHB	ORPHA:3208
HP:0003487	Babinski sign	6392	SDHD	ORPHA:3208
HP:0003487	Babinski sign	644096	SDHAF1	ORPHA:3208
HP:0003487	Babinski sign	3329	HSPD1	OMIM:605280
HP:0003487	Babinski sign	3329	HSPD1	ORPHA:100994
HP:0003487	Babinski sign	3329	HSPD1	OMIM:612233
HP:0003487	Babinski sign	3954	LETM1	OMIM:620089
HP:0003487	Babinski sign	4556	MT-TE	ORPHA:2596
HP:0003487	Babinski sign	6314	ATXN7	ORPHA:94147
HP:0003487	Babinski sign	6314	ATXN7	OMIM:164500
HP:0003487	Babinski sign	84188	FAR1	ORPHA:447753
HP:0003487	Babinski sign	3798	KIF5A	ORPHA:100991
HP:0003487	Babinski sign	3798	KIF5A	OMIM:604187
HP:0003487	Babinski sign	6622	SNCA	ORPHA:171695
HP:0003487	Babinski sign	80207	OPA3	OMIM:258501
HP:0003487	Babinski sign	170302	ARX	OMIM:300419
HP:0003487	Babinski sign	51308	REEP2	OMIM:615625
HP:0003487	Babinski sign	1861	TOR1A	OMIM:128100
HP:0003487	Babinski sign	4976	OPA1	OMIM:210000
HP:0003487	Babinski sign	6310	ATXN1	OMIM:164400
HP:0003487	Babinski sign	3736	KCNA1	OMIM:160120
HP:0003487	Babinski sign	9420	CYP7B1	ORPHA:100986
HP:0003487	Babinski sign	9420	CYP7B1	OMIM:270800
HP:0003487	Babinski sign	2258	FGF13	OMIM:301058
HP:0003487	Babinski sign	9150	CTDP1	OMIM:604168
HP:0003487	Babinski sign	55187	VPS13D	OMIM:607317
HP:0003487	Babinski sign	57505	AARS2	OMIM:615889
HP:0003487	Babinski sign	1644	DDC	OMIM:608643
HP:0003487	Babinski sign	84679	SLC9A7	OMIM:301024
HP:0003487	Babinski sign	10342	TFG	ORPHA:431329
HP:0003487	Babinski sign	10342	TFG	OMIM:615658
HP:0003487	Babinski sign	4204	MECP2	OMIM:300055
HP:0003487	Babinski sign	51741	WWOX	OMIM:614322
HP:0003487	Babinski sign	91137	SLC25A46	OMIM:616505
HP:0003487	Babinski sign	80746	TSEN2	OMIM:612389
HP:0003487	Babinski sign	80746	TSEN2	ORPHA:2524
HP:0003487	Babinski sign	1737	DLAT	ORPHA:79244
HP:0003487	Babinski sign	80208	SPG11	OMIM:602099
HP:0003487	Babinski sign	80208	SPG11	OMIM:604360
HP:0003487	Babinski sign	80208	SPG11	OMIM:616668
HP:0003487	Babinski sign	128989	TANGO2	ORPHA:480864
HP:0003487	Babinski sign	128637	TBC1D20	OMIM:615663
HP:0003487	Babinski sign	58494	JAM2	OMIM:618824
HP:0003487	Babinski sign	22948	CCT5	ORPHA:139578
HP:0003487	Babinski sign	22948	CCT5	OMIM:256840
HP:0003487	Babinski sign	4929	NR4A2	ORPHA:98808
HP:0003487	Babinski sign	3615	IMPDH2	ORPHA:98808
HP:0003487	Babinski sign	10613	ERLIN1	OMIM:615681
HP:0003487	Babinski sign	283989	TSEN54	ORPHA:2524
HP:0003487	Babinski sign	79042	TSEN34	ORPHA:2524
HP:0003487	Babinski sign	51091	SEPSECS	ORPHA:2524
HP:0003487	Babinski sign	271	AMPD2	OMIM:615686
HP:0003487	Babinski sign	57570	TRMT5	OMIM:616539
HP:0003487	Babinski sign	6509	SLC1A4	OMIM:616657
HP:0003487	Babinski sign	9215	LARGE1	OMIM:608840
HP:0003487	Babinski sign	51	ACOX1	OMIM:264470
HP:0003487	Babinski sign	6513	SLC2A1	OMIM:606777
HP:0003487	Babinski sign	8913	CACNA1G	ORPHA:458803
HP:0003487	Babinski sign	8913	CACNA1G	OMIM:616795
HP:0003487	Babinski sign	29920	PYCR2	OMIM:616420
HP:0003487	Babinski sign	22943	DKK1	ORPHA:268882
HP:0003487	Babinski sign	4724	NDUFS4	OMIM:252010
HP:0003487	Babinski sign	8086	AAAS	OMIM:231550
HP:0003487	Babinski sign	51663	ZFR	ORPHA:401840
HP:0003487	Babinski sign	84706	GPT2	ORPHA:477673
HP:0003487	Babinski sign	1968	EIF2S3	OMIM:300148
HP:0003487	Babinski sign	7305	TYROBP	OMIM:221770
HP:0003487	Babinski sign	4747	NEFL	OMIM:617882
HP:0003487	Babinski sign	221927	BRAT1	OMIM:614498
HP:0003487	Babinski sign	54820	NDE1	OMIM:614019
HP:0003487	Babinski sign	9373	PLAA	OMIM:617527
HP:0007256	Abnormal pyramidal sign	10749	KIF1C	ORPHA:397946
HP:0007256	Abnormal pyramidal sign	10749	KIF1C	OMIM:611302
HP:0007256	Abnormal pyramidal sign	85465	SELENOI	ORPHA:506353
HP:0007256	Abnormal pyramidal sign	85465	SELENOI	OMIM:618768
HP:0007256	Abnormal pyramidal sign	3064	HTT	ORPHA:399
HP:0007256	Abnormal pyramidal sign	6515	SLC2A3	ORPHA:399
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	OMIM:109150
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276238
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276244
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276241
HP:0007256	Abnormal pyramidal sign	4099	MAG	OMIM:616680
HP:0007256	Abnormal pyramidal sign	4099	MAG	ORPHA:459056
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	OMIM:300911
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	ORPHA:93952
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	OMIM:300423
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	ORPHA:363654
HP:0007256	Abnormal pyramidal sign	9853	RUSC2	OMIM:617773
HP:0007256	Abnormal pyramidal sign	23446	SLC44A1	OMIM:618868
HP:0007256	Abnormal pyramidal sign	6873	TAF2	OMIM:615599
HP:0007256	Abnormal pyramidal sign	6873	TAF2	ORPHA:397951
HP:0007256	Abnormal pyramidal sign	2895	GRID2	OMIM:616204
HP:0007256	Abnormal pyramidal sign	22880	MORC2	OMIM:616688
HP:0007256	Abnormal pyramidal sign	22880	MORC2	OMIM:619090
HP:0007256	Abnormal pyramidal sign	22880	MORC2	ORPHA:466768
HP:0007256	Abnormal pyramidal sign	1786	DNMT1	ORPHA:314404
HP:0007256	Abnormal pyramidal sign	6687	SPG7	ORPHA:99013
HP:0007256	Abnormal pyramidal sign	6687	SPG7	OMIM:607259
HP:0007256	Abnormal pyramidal sign	6687	SPG7	ORPHA:35689
HP:0007256	Abnormal pyramidal sign	5354	PLP1	ORPHA:99015
HP:0007256	Abnormal pyramidal sign	5354	PLP1	ORPHA:280229
HP:0007256	Abnormal pyramidal sign	5354	PLP1	OMIM:312920
HP:0007256	Abnormal pyramidal sign	57165	GJC2	OMIM:608804
HP:0007256	Abnormal pyramidal sign	57165	GJC2	OMIM:613206
HP:0007256	Abnormal pyramidal sign	10908	PNPLA6	ORPHA:139480
HP:0007256	Abnormal pyramidal sign	10908	PNPLA6	OMIM:612020
HP:0007256	Abnormal pyramidal sign	8722	CTSF	OMIM:615362
HP:0007256	Abnormal pyramidal sign	200205	IBA57	OMIM:616451
HP:0007256	Abnormal pyramidal sign	200205	IBA57	ORPHA:468661
HP:0007256	Abnormal pyramidal sign	10528	NOP56	OMIM:614153
HP:0007256	Abnormal pyramidal sign	10528	NOP56	ORPHA:276198
HP:0007256	Abnormal pyramidal sign	1841	DTYMK	OMIM:619847
HP:0007256	Abnormal pyramidal sign	2670	GFAP	OMIM:203450
HP:0007256	Abnormal pyramidal sign	2670	GFAP	ORPHA:363722
HP:0007256	Abnormal pyramidal sign	57156	TMEM63C	OMIM:619966
HP:0007256	Abnormal pyramidal sign	57231	SNX14	ORPHA:397709
HP:0007256	Abnormal pyramidal sign	57231	SNX14	OMIM:616354
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	ORPHA:314632
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	OMIM:617225
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	ORPHA:513436
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	ORPHA:306674
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	OMIM:606693
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309271
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309263
HP:0007256	Abnormal pyramidal sign	410	ARSA	OMIM:250100
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309256
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309271
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309263
HP:0007256	Abnormal pyramidal sign	5660	PSAP	OMIM:611721
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309256
HP:0007256	Abnormal pyramidal sign	5660	PSAP	OMIM:249900
HP:0007256	Abnormal pyramidal sign	219285	SAMD9L	OMIM:159550
HP:0007256	Abnormal pyramidal sign	219285	SAMD9L	OMIM:619806
HP:0007256	Abnormal pyramidal sign	9289	ADGRG1	OMIM:606854
HP:0007256	Abnormal pyramidal sign	348	APOE	OMIM:607822
HP:0007256	Abnormal pyramidal sign	5663	PSEN1	OMIM:607822
HP:0007256	Abnormal pyramidal sign	7345	UCHL1	OMIM:615491
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	OMIM:616586
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	OMIM:601162
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	ORPHA:447757
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	ORPHA:447753
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	ORPHA:447760
HP:0007256	Abnormal pyramidal sign	215	ABCD1	ORPHA:139399
HP:0007256	Abnormal pyramidal sign	64834	ELOVL1	OMIM:618527
HP:0007256	Abnormal pyramidal sign	311	ANXA11	OMIM:619733
HP:0007256	Abnormal pyramidal sign	7920	ABHD16A	OMIM:619735
HP:0007256	Abnormal pyramidal sign	8560	DEGS1	OMIM:618404
HP:0007256	Abnormal pyramidal sign	2074	ERCC6	OMIM:278800
HP:0007256	Abnormal pyramidal sign	343641	TGM6	ORPHA:276193
HP:0007256	Abnormal pyramidal sign	343641	TGM6	OMIM:613908
HP:0007256	Abnormal pyramidal sign	857	CAV1	OMIM:606721
HP:0007256	Abnormal pyramidal sign	55149	MTPAP	ORPHA:254343
HP:0007256	Abnormal pyramidal sign	55149	MTPAP	OMIM:613672
HP:0007256	Abnormal pyramidal sign	5297	PI4KA	OMIM:619621
HP:0007256	Abnormal pyramidal sign	55703	POLR3B	OMIM:619742
HP:0007256	Abnormal pyramidal sign	55703	POLR3B	OMIM:607694
HP:0007256	Abnormal pyramidal sign	83636	C19orf12	OMIM:614298
HP:0007256	Abnormal pyramidal sign	83636	C19orf12	OMIM:615043
HP:0007256	Abnormal pyramidal sign	5833	PCYT2	OMIM:618770
HP:0007256	Abnormal pyramidal sign	246243	RNASEH1	OMIM:616479
HP:0007256	Abnormal pyramidal sign	51271	UBAP1	OMIM:618418
HP:0007256	Abnormal pyramidal sign	51271	UBAP1	ORPHA:100993
HP:0007256	Abnormal pyramidal sign	492	ATP2B3	ORPHA:314978
HP:0007256	Abnormal pyramidal sign	9897	WASHC5	OMIM:603563
HP:0007256	Abnormal pyramidal sign	9897	WASHC5	ORPHA:100989
HP:0007256	Abnormal pyramidal sign	113612	CYP2U1	OMIM:615030
HP:0007256	Abnormal pyramidal sign	113612	CYP2U1	ORPHA:320411
HP:0007256	Abnormal pyramidal sign	10717	AP4B1	OMIM:614066
HP:0007256	Abnormal pyramidal sign	10717	AP4B1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	91574	MTRFR	OMIM:615035
HP:0007256	Abnormal pyramidal sign	91574	MTRFR	ORPHA:320375
HP:0007256	Abnormal pyramidal sign	51604	PIGT	OMIM:615398
HP:0007256	Abnormal pyramidal sign	11154	AP4S1	OMIM:614067
HP:0007256	Abnormal pyramidal sign	11154	AP4S1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	23259	DDHD2	OMIM:615033
HP:0007256	Abnormal pyramidal sign	54902	TTC19	OMIM:615157
HP:0007256	Abnormal pyramidal sign	4191	MDH2	OMIM:617339
HP:0007256	Abnormal pyramidal sign	23474	ETHE1	OMIM:602473
HP:0007256	Abnormal pyramidal sign	1615	DARS1	OMIM:615281
HP:0007256	Abnormal pyramidal sign	7358	UGDH	OMIM:618792
HP:0007256	Abnormal pyramidal sign	9474	ATG5	OMIM:617584
HP:0007256	Abnormal pyramidal sign	6506	SLC1A2	OMIM:617105
HP:0007256	Abnormal pyramidal sign	25973	PARS2	OMIM:618437
HP:0007256	Abnormal pyramidal sign	11261	CHP1	OMIM:618438
HP:0007256	Abnormal pyramidal sign	10667	FARS2	ORPHA:466722
HP:0007256	Abnormal pyramidal sign	10667	FARS2	OMIM:617046
HP:0007256	Abnormal pyramidal sign	56652	TWNK	OMIM:271245
HP:0007256	Abnormal pyramidal sign	56652	TWNK	OMIM:607459
HP:0007256	Abnormal pyramidal sign	10280	SIGMAR1	OMIM:605726
HP:0007256	Abnormal pyramidal sign	23299	BICD2	OMIM:615290
HP:0007256	Abnormal pyramidal sign	5981	RFC1	ORPHA:504476
HP:0007256	Abnormal pyramidal sign	5917	RARS1	OMIM:616140
HP:0007256	Abnormal pyramidal sign	339855	KY	ORPHA:496689
HP:0007256	Abnormal pyramidal sign	2395	FXN	OMIM:229300
HP:0007256	Abnormal pyramidal sign	2395	FXN	ORPHA:95
HP:0007256	Abnormal pyramidal sign	57679	ALS2	OMIM:205100
HP:0007256	Abnormal pyramidal sign	57679	ALS2	OMIM:607225
HP:0007256	Abnormal pyramidal sign	57679	ALS2	OMIM:606353
HP:0007256	Abnormal pyramidal sign	9725	TMEM63A	OMIM:618688
HP:0007256	Abnormal pyramidal sign	6683	SPAST	OMIM:182601
HP:0007256	Abnormal pyramidal sign	6683	SPAST	ORPHA:100985
HP:0007256	Abnormal pyramidal sign	51062	ATL1	OMIM:182600
HP:0007256	Abnormal pyramidal sign	51062	ATL1	ORPHA:100984
HP:0007256	Abnormal pyramidal sign	6843	VAMP1	ORPHA:251282
HP:0007256	Abnormal pyramidal sign	57192	MCOLN1	OMIM:252650
HP:0007256	Abnormal pyramidal sign	5654	HTRA1	OMIM:600142
HP:0007256	Abnormal pyramidal sign	2512	FTL	ORPHA:157846
HP:0007256	Abnormal pyramidal sign	2512	FTL	OMIM:606159
HP:0007256	Abnormal pyramidal sign	54344	DPM3	ORPHA:263494
HP:0007256	Abnormal pyramidal sign	3658	IREB2	OMIM:618451
HP:0007256	Abnormal pyramidal sign	55280	CWF19L1	ORPHA:453521
HP:0007256	Abnormal pyramidal sign	2583	B4GALNT1	OMIM:609195
HP:0007256	Abnormal pyramidal sign	2583	B4GALNT1	ORPHA:101006
HP:0007256	Abnormal pyramidal sign	5277	PIGA	OMIM:301072
HP:0007256	Abnormal pyramidal sign	4001	LMNB1	ORPHA:99027
HP:0007256	Abnormal pyramidal sign	4001	LMNB1	OMIM:169500
HP:0007256	Abnormal pyramidal sign	23064	SETX	OMIM:602433
HP:0007256	Abnormal pyramidal sign	23064	SETX	ORPHA:64753
HP:0007256	Abnormal pyramidal sign	23064	SETX	ORPHA:357043
HP:0007256	Abnormal pyramidal sign	23111	SPART	OMIM:275900
HP:0007256	Abnormal pyramidal sign	23111	SPART	ORPHA:101000
HP:0007256	Abnormal pyramidal sign	126129	CPT1C	OMIM:616282
HP:0007256	Abnormal pyramidal sign	126129	CPT1C	ORPHA:444099
HP:0007256	Abnormal pyramidal sign	23516	SLC39A14	OMIM:617013
HP:0007256	Abnormal pyramidal sign	23516	SLC39A14	ORPHA:521406
HP:0007256	Abnormal pyramidal sign	23345	SYNE1	ORPHA:88644
HP:0007256	Abnormal pyramidal sign	4719	NDUFS1	OMIM:618226
HP:0007256	Abnormal pyramidal sign	4508	MT-ATP6	ORPHA:320360
HP:0007256	Abnormal pyramidal sign	4508	MT-ATP6	ORPHA:225154
HP:0007256	Abnormal pyramidal sign	4508	MT-ATP6	ORPHA:644
HP:0007256	Abnormal pyramidal sign	5428	POLG	OMIM:258450
HP:0007256	Abnormal pyramidal sign	5428	POLG	OMIM:607459
HP:0007256	Abnormal pyramidal sign	9256	TSPOAP1	ORPHA:101150
HP:0007256	Abnormal pyramidal sign	7054	TH	ORPHA:101150
HP:0007256	Abnormal pyramidal sign	27235	COQ2	OMIM:146500
HP:0007256	Abnormal pyramidal sign	11160	ERLIN2	ORPHA:209951
HP:0007256	Abnormal pyramidal sign	11160	ERLIN2	OMIM:611225
HP:0007256	Abnormal pyramidal sign	123606	NIPA1	OMIM:600363
HP:0007256	Abnormal pyramidal sign	123606	NIPA1	ORPHA:100988
HP:0007256	Abnormal pyramidal sign	5631	PRPS1	ORPHA:423479
HP:0007256	Abnormal pyramidal sign	6567	SLC16A2	OMIM:300523
HP:0007256	Abnormal pyramidal sign	6567	SLC16A2	ORPHA:59
HP:0007256	Abnormal pyramidal sign	81790	RNF170	OMIM:619686
HP:0007256	Abnormal pyramidal sign	81790	RNF170	OMIM:608984
HP:0007256	Abnormal pyramidal sign	23114	NFASC	OMIM:618356
HP:0007256	Abnormal pyramidal sign	5610	EIF2AK2	OMIM:619687
HP:0007256	Abnormal pyramidal sign	6647	SOD1	OMIM:618598
HP:0007256	Abnormal pyramidal sign	25814	ATXN10	OMIM:603516
HP:0007256	Abnormal pyramidal sign	25814	ATXN10	ORPHA:98761
HP:0007256	Abnormal pyramidal sign	116461	TSEN15	OMIM:617026
HP:0007256	Abnormal pyramidal sign	116461	TSEN15	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	8492	PRSS12	OMIM:249500
HP:0007256	Abnormal pyramidal sign	443	ASPA	ORPHA:314918
HP:0007256	Abnormal pyramidal sign	443	ASPA	ORPHA:314911
HP:0007256	Abnormal pyramidal sign	5010	CLDN11	OMIM:619328
HP:0007256	Abnormal pyramidal sign	2581	GALC	ORPHA:206448
HP:0007256	Abnormal pyramidal sign	9179	AP4M1	OMIM:612936
HP:0007256	Abnormal pyramidal sign	9179	AP4M1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	16	AARS1	OMIM:619691
HP:0007256	Abnormal pyramidal sign	547	KIF1A	ORPHA:101010
HP:0007256	Abnormal pyramidal sign	547	KIF1A	OMIM:610357
HP:0007256	Abnormal pyramidal sign	547	KIF1A	OMIM:614255
HP:0007256	Abnormal pyramidal sign	84340	GFM2	ORPHA:565624
HP:0007256	Abnormal pyramidal sign	84340	GFM2	OMIM:618397
HP:0007256	Abnormal pyramidal sign	8878	SQSTM1	OMIM:617158
HP:0007256	Abnormal pyramidal sign	8878	SQSTM1	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	4125	MAN2B1	OMIM:248500
HP:0007256	Abnormal pyramidal sign	80224	NUBPL	OMIM:618242
HP:0007256	Abnormal pyramidal sign	4547	MTTP	ORPHA:14
HP:0007256	Abnormal pyramidal sign	51102	MECR	OMIM:617282
HP:0007256	Abnormal pyramidal sign	5611	DNAJC3	OMIM:616192
HP:0007256	Abnormal pyramidal sign	5611	DNAJC3	ORPHA:445062
HP:0007256	Abnormal pyramidal sign	80821	DDHD1	ORPHA:101008
HP:0007256	Abnormal pyramidal sign	80821	DDHD1	OMIM:609340
HP:0007256	Abnormal pyramidal sign	2705	GJB1	OMIM:302800
HP:0007256	Abnormal pyramidal sign	2705	GJB1	ORPHA:1175
HP:0007256	Abnormal pyramidal sign	1200	TPP1	OMIM:609270
HP:0007256	Abnormal pyramidal sign	1200	TPP1	ORPHA:284324
HP:0007256	Abnormal pyramidal sign	84668	HYCC1	OMIM:610532
HP:0007256	Abnormal pyramidal sign	87178	PNPT1	ORPHA:101111
HP:0007256	Abnormal pyramidal sign	87178	PNPT1	OMIM:608703
HP:0007256	Abnormal pyramidal sign	1938	EEF2	ORPHA:101112
HP:0007256	Abnormal pyramidal sign	9197	SLC33A1	ORPHA:171863
HP:0007256	Abnormal pyramidal sign	9197	SLC33A1	OMIM:612539
HP:0007256	Abnormal pyramidal sign	2892	GRIA3	ORPHA:364028
HP:0007256	Abnormal pyramidal sign	26580	BSCL2	OMIM:619112
HP:0007256	Abnormal pyramidal sign	26580	BSCL2	OMIM:270685
HP:0007256	Abnormal pyramidal sign	26580	BSCL2	ORPHA:100998
HP:0007256	Abnormal pyramidal sign	9927	MFN2	OMIM:609260
HP:0007256	Abnormal pyramidal sign	9927	MFN2	ORPHA:99947
HP:0007256	Abnormal pyramidal sign	3839	KPNA3	OMIM:620106
HP:0007256	Abnormal pyramidal sign	3839	KPNA3	ORPHA:171612
HP:0007256	Abnormal pyramidal sign	538	ATP7A	OMIM:309400
HP:0007256	Abnormal pyramidal sign	3032	HADHB	ORPHA:746
HP:0007256	Abnormal pyramidal sign	3030	HADHA	ORPHA:746
HP:0007256	Abnormal pyramidal sign	22978	NT5C2	ORPHA:320396
HP:0007256	Abnormal pyramidal sign	22978	NT5C2	OMIM:613162
HP:0007256	Abnormal pyramidal sign	5375	PMP2	OMIM:618279
HP:0007256	Abnormal pyramidal sign	6472	SHMT2	OMIM:619121
HP:0007256	Abnormal pyramidal sign	6253	RTN2	OMIM:604805
HP:0007256	Abnormal pyramidal sign	6253	RTN2	ORPHA:100993
HP:0007256	Abnormal pyramidal sign	5173	PDYN	ORPHA:101108
HP:0007256	Abnormal pyramidal sign	5173	PDYN	OMIM:610245
HP:0007256	Abnormal pyramidal sign	10939	AFG3L2	ORPHA:101109
HP:0007256	Abnormal pyramidal sign	10939	AFG3L2	OMIM:610246
HP:0007256	Abnormal pyramidal sign	79152	FA2H	ORPHA:171629
HP:0007256	Abnormal pyramidal sign	79152	FA2H	OMIM:612319
HP:0007256	Abnormal pyramidal sign	57704	GBA2	ORPHA:320391
HP:0007256	Abnormal pyramidal sign	57704	GBA2	OMIM:614409
HP:0007256	Abnormal pyramidal sign	57704	GBA2	ORPHA:352641
HP:0007256	Abnormal pyramidal sign	26278	SACS	OMIM:270550
HP:0007256	Abnormal pyramidal sign	26278	SACS	ORPHA:98
HP:0007256	Abnormal pyramidal sign	25978	CHMP2B	OMIM:600795
HP:0007256	Abnormal pyramidal sign	23636	NUP62	ORPHA:225154
HP:0007256	Abnormal pyramidal sign	103	ADAR	ORPHA:225154
HP:0007256	Abnormal pyramidal sign	6389	SDHA	OMIM:619259
HP:0007256	Abnormal pyramidal sign	6389	SDHA	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	6389	SDHA	OMIM:252011
HP:0007256	Abnormal pyramidal sign	3739	KCNA4	OMIM:618284
HP:0007256	Abnormal pyramidal sign	7415	VCP	OMIM:613954
HP:0007256	Abnormal pyramidal sign	7415	VCP	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	7415	VCP	ORPHA:329475
HP:0007256	Abnormal pyramidal sign	124454	EARS2	OMIM:614924
HP:0007256	Abnormal pyramidal sign	8139	GAN	ORPHA:643
HP:0007256	Abnormal pyramidal sign	54936	ADPRS	OMIM:618170
HP:0007256	Abnormal pyramidal sign	1678	TIMM8A	ORPHA:52368
HP:0007256	Abnormal pyramidal sign	84842	HPDL	OMIM:619027
HP:0007256	Abnormal pyramidal sign	25793	FBXO7	OMIM:260300
HP:0007256	Abnormal pyramidal sign	25793	FBXO7	ORPHA:171695
HP:0007256	Abnormal pyramidal sign	8398	PLA2G6	OMIM:610217
HP:0007256	Abnormal pyramidal sign	55129	ANO10	OMIM:613728
HP:0007256	Abnormal pyramidal sign	5621	PRNP	ORPHA:282166
HP:0007256	Abnormal pyramidal sign	2643	GCH1	OMIM:128230
HP:0007256	Abnormal pyramidal sign	2643	GCH1	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	9131	AIFM1	OMIM:300232
HP:0007256	Abnormal pyramidal sign	9131	AIFM1	ORPHA:83629
HP:0007256	Abnormal pyramidal sign	8506	CNTNAP1	OMIM:618186
HP:0007256	Abnormal pyramidal sign	400916	CHCHD10	OMIM:615911
HP:0007256	Abnormal pyramidal sign	400916	CHCHD10	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	1593	CYP27A1	OMIM:213700
HP:0007256	Abnormal pyramidal sign	1593	CYP27A1	ORPHA:909
HP:0007256	Abnormal pyramidal sign	2521	FUS	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	23435	TARDBP	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	23435	TARDBP	OMIM:612069
HP:0007256	Abnormal pyramidal sign	29110	TBK1	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	54209	TREM2	OMIM:618193
HP:0007256	Abnormal pyramidal sign	51218	GLRX5	ORPHA:401866
HP:0007256	Abnormal pyramidal sign	51218	GLRX5	OMIM:616859
HP:0007256	Abnormal pyramidal sign	51506	UFC1	OMIM:618076
HP:0007256	Abnormal pyramidal sign	6311	ATXN2	OMIM:183090
HP:0007256	Abnormal pyramidal sign	80055	PGAP1	OMIM:615802
HP:0007256	Abnormal pyramidal sign	80055	PGAP1	ORPHA:401820
HP:0007256	Abnormal pyramidal sign	23431	AP4E1	OMIM:613744
HP:0007256	Abnormal pyramidal sign	23431	AP4E1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	25778	DSTYK	OMIM:270750
HP:0007256	Abnormal pyramidal sign	51324	SPG21	OMIM:248900
HP:0007256	Abnormal pyramidal sign	116228	COX20	OMIM:619054
HP:0007256	Abnormal pyramidal sign	64207	IRF2BPL	OMIM:618088
HP:0007256	Abnormal pyramidal sign	118813	ZFYVE27	OMIM:610244
HP:0007256	Abnormal pyramidal sign	55157	DARS2	ORPHA:137898
HP:0007256	Abnormal pyramidal sign	55157	DARS2	OMIM:611105
HP:0007256	Abnormal pyramidal sign	823	CAPN1	OMIM:616907
HP:0007256	Abnormal pyramidal sign	823	CAPN1	ORPHA:488594
HP:0007256	Abnormal pyramidal sign	10273	STUB1	OMIM:618093
HP:0007256	Abnormal pyramidal sign	10273	STUB1	OMIM:615768
HP:0007256	Abnormal pyramidal sign	22	ABCB7	OMIM:301310
HP:0007256	Abnormal pyramidal sign	100303755	PET117	OMIM:619063
HP:0007256	Abnormal pyramidal sign	4697	NDUFA4	OMIM:619065
HP:0007256	Abnormal pyramidal sign	65055	REEP1	OMIM:610250
HP:0007256	Abnormal pyramidal sign	26090	ABHD12	OMIM:612674
HP:0007256	Abnormal pyramidal sign	144165	PRICKLE1	OMIM:612437
HP:0007256	Abnormal pyramidal sign	5376	PMP22	ORPHA:3115
HP:0007256	Abnormal pyramidal sign	4359	MPZ	ORPHA:3115
HP:0007256	Abnormal pyramidal sign	1267	CNP	OMIM:619071
HP:0007256	Abnormal pyramidal sign	23533	PIK3R5	ORPHA:64753
HP:0007256	Abnormal pyramidal sign	4744	NEFH	OMIM:616924
HP:0007256	Abnormal pyramidal sign	90624	LYRM7	OMIM:615838
HP:0007256	Abnormal pyramidal sign	1282	COL4A1	OMIM:175780
HP:0007256	Abnormal pyramidal sign	64837	KLC2	OMIM:609541
HP:0007256	Abnormal pyramidal sign	80704	SLC19A3	OMIM:607483
HP:0007256	Abnormal pyramidal sign	80025	PANK2	OMIM:234200
HP:0007256	Abnormal pyramidal sign	11128	POLR3A	ORPHA:447896
HP:0007256	Abnormal pyramidal sign	11128	POLR3A	OMIM:607694
HP:0007256	Abnormal pyramidal sign	23503	ZFYVE26	OMIM:270700
HP:0007256	Abnormal pyramidal sign	23503	ZFYVE26	ORPHA:100996
HP:0007256	Abnormal pyramidal sign	9409	PEX16	OMIM:614877
HP:0007256	Abnormal pyramidal sign	773	CACNA1A	ORPHA:98758
HP:0007256	Abnormal pyramidal sign	8242	KDM5C	OMIM:300534
HP:0007256	Abnormal pyramidal sign	6390	SDHB	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	6392	SDHD	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	644096	SDHAF1	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	3329	HSPD1	OMIM:605280
HP:0007256	Abnormal pyramidal sign	3329	HSPD1	ORPHA:100994
HP:0007256	Abnormal pyramidal sign	3329	HSPD1	OMIM:612233
HP:0007256	Abnormal pyramidal sign	3954	LETM1	OMIM:620089
HP:0007256	Abnormal pyramidal sign	4556	MT-TE	ORPHA:2596
HP:0007256	Abnormal pyramidal sign	6314	ATXN7	ORPHA:94147
HP:0007256	Abnormal pyramidal sign	6314	ATXN7	OMIM:164500
HP:0007256	Abnormal pyramidal sign	84188	FAR1	ORPHA:447753
HP:0007256	Abnormal pyramidal sign	3798	KIF5A	ORPHA:100991
HP:0007256	Abnormal pyramidal sign	3798	KIF5A	OMIM:604187
HP:0007256	Abnormal pyramidal sign	6622	SNCA	ORPHA:171695
HP:0007256	Abnormal pyramidal sign	80207	OPA3	OMIM:258501
HP:0007256	Abnormal pyramidal sign	170302	ARX	OMIM:300419
HP:0007256	Abnormal pyramidal sign	51308	REEP2	OMIM:615625
HP:0007256	Abnormal pyramidal sign	1861	TOR1A	OMIM:128100
HP:0007256	Abnormal pyramidal sign	4976	OPA1	OMIM:210000
HP:0007256	Abnormal pyramidal sign	6310	ATXN1	OMIM:164400
HP:0007256	Abnormal pyramidal sign	3736	KCNA1	OMIM:160120
HP:0007256	Abnormal pyramidal sign	9420	CYP7B1	ORPHA:100986
HP:0007256	Abnormal pyramidal sign	9420	CYP7B1	OMIM:270800
HP:0007256	Abnormal pyramidal sign	2258	FGF13	OMIM:301058
HP:0007256	Abnormal pyramidal sign	9150	CTDP1	OMIM:604168
HP:0007256	Abnormal pyramidal sign	55187	VPS13D	OMIM:607317
HP:0007256	Abnormal pyramidal sign	57505	AARS2	OMIM:615889
HP:0007256	Abnormal pyramidal sign	1644	DDC	OMIM:608643
HP:0007256	Abnormal pyramidal sign	84679	SLC9A7	OMIM:301024
HP:0007256	Abnormal pyramidal sign	10342	TFG	ORPHA:431329
HP:0007256	Abnormal pyramidal sign	10342	TFG	OMIM:615658
HP:0007256	Abnormal pyramidal sign	4204	MECP2	OMIM:300055
HP:0007256	Abnormal pyramidal sign	51741	WWOX	OMIM:614322
HP:0007256	Abnormal pyramidal sign	91137	SLC25A46	OMIM:616505
HP:0007256	Abnormal pyramidal sign	80746	TSEN2	OMIM:612389
HP:0007256	Abnormal pyramidal sign	80746	TSEN2	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	1737	DLAT	ORPHA:79244
HP:0007256	Abnormal pyramidal sign	80208	SPG11	OMIM:602099
HP:0007256	Abnormal pyramidal sign	80208	SPG11	OMIM:604360
HP:0007256	Abnormal pyramidal sign	80208	SPG11	OMIM:616668
HP:0007256	Abnormal pyramidal sign	128989	TANGO2	ORPHA:480864
HP:0007256	Abnormal pyramidal sign	128637	TBC1D20	OMIM:615663
HP:0007256	Abnormal pyramidal sign	58494	JAM2	OMIM:618824
HP:0007256	Abnormal pyramidal sign	22948	CCT5	ORPHA:139578
HP:0007256	Abnormal pyramidal sign	22948	CCT5	OMIM:256840
HP:0007256	Abnormal pyramidal sign	4929	NR4A2	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	3615	IMPDH2	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	10613	ERLIN1	OMIM:615681
HP:0007256	Abnormal pyramidal sign	283989	TSEN54	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	79042	TSEN34	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	51091	SEPSECS	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	271	AMPD2	OMIM:615686
HP:0007256	Abnormal pyramidal sign	57570	TRMT5	OMIM:616539
HP:0007256	Abnormal pyramidal sign	6509	SLC1A4	OMIM:616657
HP:0007256	Abnormal pyramidal sign	9215	LARGE1	OMIM:608840
HP:0007256	Abnormal pyramidal sign	51	ACOX1	OMIM:264470
HP:0007256	Abnormal pyramidal sign	6513	SLC2A1	OMIM:606777
HP:0007256	Abnormal pyramidal sign	8913	CACNA1G	ORPHA:458803
HP:0007256	Abnormal pyramidal sign	8913	CACNA1G	OMIM:616795
HP:0007256	Abnormal pyramidal sign	29920	PYCR2	OMIM:616420
HP:0007256	Abnormal pyramidal sign	22943	DKK1	ORPHA:268882
HP:0007256	Abnormal pyramidal sign	4724	NDUFS4	OMIM:252010
HP:0007256	Abnormal pyramidal sign	8086	AAAS	OMIM:231550
HP:0007256	Abnormal pyramidal sign	51663	ZFR	ORPHA:401840
HP:0007256	Abnormal pyramidal sign	84706	GPT2	ORPHA:477673
HP:0007256	Abnormal pyramidal sign	1968	EIF2S3	OMIM:300148
HP:0007256	Abnormal pyramidal sign	7305	TYROBP	OMIM:221770
HP:0007256	Abnormal pyramidal sign	4747	NEFL	OMIM:617882
HP:0007256	Abnormal pyramidal sign	221927	BRAT1	OMIM:614498
HP:0007256	Abnormal pyramidal sign	54820	NDE1	OMIM:614019
HP:0007256	Abnormal pyramidal sign	9373	PLAA	OMIM:617527
HP:0007256	Abnormal pyramidal sign	6095	RORA	OMIM:618060
HP:0007256	Abnormal pyramidal sign	10134	BCAP31	OMIM:300475
HP:0007256	Abnormal pyramidal sign	10134	BCAP31	ORPHA:369939
HP:0007256	Abnormal pyramidal sign	50484	RRM2B	ORPHA:329336
HP:0007256	Abnormal pyramidal sign	10059	DNM1L	OMIM:614388
HP:0007256	Abnormal pyramidal sign	84334	COA8	ORPHA:436271
HP:0007256	Abnormal pyramidal sign	123263	MTFMT	OMIM:614947
HP:0007256	Abnormal pyramidal sign	5457	POU4F1	ORPHA:314647
HP:0007256	Abnormal pyramidal sign	23261	CAMTA1	ORPHA:314647
HP:0007256	Abnormal pyramidal sign	4072	EPCAM	ORPHA:144
HP:0007256	Abnormal pyramidal sign	4292	MLH1	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5395	PMS2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	27030	MLH3	ORPHA:144
HP:0007256	Abnormal pyramidal sign	22909	FAN1	ORPHA:144
HP:0007256	Abnormal pyramidal sign	7048	TGFBR2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	3845	KRAS	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5290	PIK3CA	ORPHA:144
HP:0007256	Abnormal pyramidal sign	2956	MSH6	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5378	PMS1	ORPHA:144
HP:0007256	Abnormal pyramidal sign	4436	MSH2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	3074	HEXB	ORPHA:309162
HP:0007256	Abnormal pyramidal sign	6531	SLC6A3	ORPHA:238455
HP:0007256	Abnormal pyramidal sign	6531	SLC6A3	OMIM:613135
HP:0007256	Abnormal pyramidal sign	56997	COQ8A	ORPHA:139485
HP:0007256	Abnormal pyramidal sign	56997	COQ8A	OMIM:612016
HP:0007256	Abnormal pyramidal sign	64218	SEMA4A	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	657	BMPR1A	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	6224	RPS20	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	57465	TBC1D24	ORPHA:352596
HP:0007256	Abnormal pyramidal sign	25914	RTTN	OMIM:614833
HP:0007256	Abnormal pyramidal sign	25914	RTTN	ORPHA:468631
HP:0007256	Abnormal pyramidal sign	224	ALDH3A2	ORPHA:816
HP:0007256	Abnormal pyramidal sign	2911	GRM1	OMIM:614831
HP:0007256	Abnormal pyramidal sign	51204	TACO1	OMIM:619052
HP:0007256	Abnormal pyramidal sign	8575	PRKRA	ORPHA:210571
HP:0007256	Abnormal pyramidal sign	8575	PRKRA	OMIM:612067
HP:0007256	Abnormal pyramidal sign	4137	MAPT	ORPHA:240071
HP:0007256	Abnormal pyramidal sign	4137	MAPT	ORPHA:240103
HP:0007256	Abnormal pyramidal sign	4137	MAPT	OMIM:260540
HP:0007256	Abnormal pyramidal sign	7343	UBTF	OMIM:617672
HP:0007256	Abnormal pyramidal sign	7343	UBTF	ORPHA:500180
HP:0007256	Abnormal pyramidal sign	6575	SLC20A2	OMIM:213600
HP:0007256	Abnormal pyramidal sign	5155	PDGFB	OMIM:213600
HP:0007256	Abnormal pyramidal sign	5159	PDGFRB	OMIM:213600
HP:0007256	Abnormal pyramidal sign	7276	TTR	OMIM:105210
HP:0007256	Abnormal pyramidal sign	27072	VPS41	ORPHA:95434
HP:0007256	Abnormal pyramidal sign	7274	TTPA	ORPHA:96
HP:0007256	Abnormal pyramidal sign	84504	NKX6-2	OMIM:617560
HP:0007256	Abnormal pyramidal sign	84504	NKX6-2	ORPHA:527497
HP:0007256	Abnormal pyramidal sign	833	CARS1	OMIM:618891
HP:0007256	Abnormal pyramidal sign	833	CARS1	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	5192	PEX10	ORPHA:247815
HP:0007256	Abnormal pyramidal sign	3735	KARS1	OMIM:619196
HP:0007256	Abnormal pyramidal sign	23312	DMXL2	ORPHA:453533
HP:0007256	Abnormal pyramidal sign	9255	AIMP1	OMIM:260600
HP:0007256	Abnormal pyramidal sign	6507	SLC1A3	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	477	ATP1A2	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	478	ATP1A3	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	146057	TTBK2	ORPHA:98767
HP:0007256	Abnormal pyramidal sign	2517	FUCA1	ORPHA:349
HP:0007256	Abnormal pyramidal sign	5728	PTEN	ORPHA:101070
HP:0007256	Abnormal pyramidal sign	5521	PPP2R2B	ORPHA:98762
HP:0007256	Abnormal pyramidal sign	57462	MYORG	OMIM:618317
HP:0007256	Abnormal pyramidal sign	3662	IRF4	ORPHA:3452
HP:0007256	Abnormal pyramidal sign	6908	TBP	ORPHA:98759
HP:0007256	Abnormal pyramidal sign	6324	SCN1B	OMIM:617350
HP:0007256	Abnormal pyramidal sign	11284	PNKP	OMIM:616267
HP:0007256	Abnormal pyramidal sign	404672	GTF2H5	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2068	ERCC2	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	7737	RNF113A	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	136647	MPLKIP	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	6897	TARS1	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2071	ERCC3	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2961	GTF2E2	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	200403	VWA3B	OMIM:616948
HP:0007256	Abnormal pyramidal sign	8831	SYNGAP1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	1173	AP2M1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6323	SCN1A	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6323	SCN1A	OMIM:607208
HP:0007256	Abnormal pyramidal sign	340533	NEXMIF	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	1106	CHD2	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6529	SLC6A1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	3980	LIG3	OMIM:619780
HP:0007256	Abnormal pyramidal sign	120	ADD3	OMIM:617008
HP:0007256	Abnormal pyramidal sign	10535	RNASEH2A	ORPHA:51
HP:0007256	Abnormal pyramidal sign	84153	RNASEH2C	ORPHA:51
HP:0007256	Abnormal pyramidal sign	25939	SAMHD1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	79621	RNASEH2B	ORPHA:51
HP:0007256	Abnormal pyramidal sign	11277	TREX1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	100147744	RNU7-1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	134353	LSM11	ORPHA:51
HP:0007256	Abnormal pyramidal sign	64135	IFIH1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	149233	IL23R	ORPHA:117
HP:0007256	Abnormal pyramidal sign	6775	STAT4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3586	IL10	ORPHA:117
HP:0007256	Abnormal pyramidal sign	4210	MEFV	ORPHA:117
HP:0007256	Abnormal pyramidal sign	1230	CCR1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	355	FAS	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3592	IL12A	ORPHA:117
HP:0007256	Abnormal pyramidal sign	101928376	IL12A-AS1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3106	HLA-B	ORPHA:117
HP:0007256	Abnormal pyramidal sign	7099	TLR4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3459	IFNGR1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	720	C4A	ORPHA:117
HP:0007256	Abnormal pyramidal sign	337867	UBAC2	ORPHA:117
HP:0007256	Abnormal pyramidal sign	51752	ERAP1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	8302	KLRC4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	374291	NDUFS7	OMIM:618224
HP:0007256	Abnormal pyramidal sign	54832	VPS13C	OMIM:616840
HP:0007256	Abnormal pyramidal sign	4720	NDUFS2	OMIM:618228
HP:0007256	Abnormal pyramidal sign	81570	CLPB	ORPHA:445038
HP:0007256	Abnormal pyramidal sign	724066	ATXN8	OMIM:608768
HP:0007256	Abnormal pyramidal sign	6315	ATXN8OS	OMIM:608768
HP:0007256	Abnormal pyramidal sign	3748	KCNC3	OMIM:605259
HP:0007256	Abnormal pyramidal sign	79868	ALG13	OMIM:300884
HP:0007256	Abnormal pyramidal sign	9829	DNAJC6	OMIM:615528
HP:0007256	Abnormal pyramidal sign	9829	DNAJC6	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	10166	SLC25A15	ORPHA:415
HP:0007256	Abnormal pyramidal sign	10166	SLC25A15	OMIM:238970
HP:0007256	Abnormal pyramidal sign	79944	L2HGDH	OMIM:236792
HP:0007256	Abnormal pyramidal sign	727676	SNORD118	OMIM:614561
HP:0007256	Abnormal pyramidal sign	727676	SNORD118	ORPHA:542310
HP:0007256	Abnormal pyramidal sign	2058	EPRS1	OMIM:617951
HP:0007256	Abnormal pyramidal sign	6663	SOX10	ORPHA:163746
HP:0007256	Abnormal pyramidal sign	51079	NDUFA13	OMIM:618249
HP:0007256	Abnormal pyramidal sign	54974	THG1L	OMIM:618800
HP:0007256	Abnormal pyramidal sign	259232	NALCN	OMIM:615419
HP:0007256	Abnormal pyramidal sign	2632	GBE1	ORPHA:206583
HP:0007256	Abnormal pyramidal sign	9217	VAPB	OMIM:608627
HP:0007256	Abnormal pyramidal sign	54664	TMEM106B	OMIM:617964
HP:0007256	Abnormal pyramidal sign	9757	KMT2B	ORPHA:589618
HP:0007256	Abnormal pyramidal sign	35	ACADS	OMIM:201470
HP:0007256	Abnormal pyramidal sign	57468	SLC12A5	OMIM:616645
HP:0007256	Abnormal pyramidal sign	3425	IDUA	ORPHA:93473
HP:0007256	Abnormal pyramidal sign	3425	IDUA	ORPHA:93476
HP:0007256	Abnormal pyramidal sign	5420	PODXL	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	8867	SYNJ1	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	29925	GMPPB	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	79147	FKRP	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	29954	POMT2	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	84197	POMK	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	55624	POMGNT1	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	10585	POMT1	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	2760	GM2A	ORPHA:309246
HP:0007256	Abnormal pyramidal sign	2760	GM2A	OMIM:272750
HP:0007256	Abnormal pyramidal sign	6785	ELOVL4	OMIM:133190
HP:0007256	Abnormal pyramidal sign	5264	PHYH	ORPHA:773
HP:0007256	Abnormal pyramidal sign	5191	PEX7	ORPHA:773
HP:0007256	Abnormal pyramidal sign	1807	DPYS	OMIM:222748
HP:0007256	Abnormal pyramidal sign	80169	CTC1	OMIM:612199
HP:0007256	Abnormal pyramidal sign	4668	NAGA	ORPHA:79279
HP:0007256	Abnormal pyramidal sign	587	BCAT2	OMIM:618850
HP:0003489	Acute episodes of neuropathic symptoms	3145	HMBS	OMIM:176000
HP:0003489	Acute episodes of neuropathic symptoms	1371	CPOX	OMIM:121300
HP:0003489	Acute episodes of neuropathic symptoms	3852	KRT5	ORPHA:79400
HP:0003489	Acute episodes of neuropathic symptoms	3861	KRT14	ORPHA:79400
HP:0003150	Glutaric aciduria	79783	SUGCT	ORPHA:35706
HP:0003150	Glutaric aciduria	79783	SUGCT	OMIM:231690
HP:0003150	Glutaric aciduria	2639	GCDH	ORPHA:25
HP:0003150	Glutaric aciduria	2639	GCDH	OMIM:231670
HP:0003150	Glutaric aciduria	728294	D2HGDH	OMIM:600721
HP:0003150	Glutaric aciduria	3155	HMGCL	OMIM:246450
HP:0003150	Glutaric aciduria	2108	ETFA	OMIM:231680
HP:0003150	Glutaric aciduria	2109	ETFB	OMIM:231680
HP:0003150	Glutaric aciduria	2110	ETFDH	OMIM:231680
HP:0003491	Elevated urine pyrophosphate	249	ALPL	OMIM:241500
HP:0003491	Elevated urine pyrophosphate	249	ALPL	OMIM:241510
HP:0003493	Antinuclear antibody positivity	9056	SLC7A7	ORPHA:470
HP:0003493	Antinuclear antibody positivity	355	FAS	ORPHA:3261
HP:0003493	Antinuclear antibody positivity	355	FAS	OMIM:601859
HP:0003493	Antinuclear antibody positivity	356	FASLG	ORPHA:3261
HP:0003493	Antinuclear antibody positivity	356	FASLG	OMIM:601859
HP:0003493	Antinuclear antibody positivity	5580	PRKCD	ORPHA:3261
HP:0003493	Antinuclear antibody positivity	5580	PRKCD	OMIM:615559
HP:0003493	Antinuclear antibody positivity	843	CASP10	ORPHA:3261
HP:0003493	Antinuclear antibody positivity	843	CASP10	OMIM:603909
HP:0003493	Antinuclear antibody positivity	10125	RASGRP1	ORPHA:3261
HP:0003493	Antinuclear antibody positivity	10125	RASGRP1	OMIM:618534
HP:0003493	Antinuclear antibody positivity	1410	CRYAB	OMIM:608810
HP:0003493	Antinuclear antibody positivity	29775	CARD10	OMIM:619632
HP:0003493	Antinuclear antibody positivity	6775	STAT4	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	6775	STAT4	ORPHA:93552
HP:0003493	Antinuclear antibody positivity	6775	STAT4	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	3560	IL2RB	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	3560	IL2RB	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	79722	ANKRD55	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	79722	ANKRD55	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	26191	PTPN22	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	26191	PTPN22	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	26191	PTPN22	OMIM:152700
HP:0003493	Antinuclear antibody positivity	919	CD247	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	919	CD247	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	3559	IL2RA	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	3559	IL2RA	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	5771	PTPN2	ORPHA:85410
HP:0003493	Antinuclear antibody positivity	5771	PTPN2	ORPHA:85408
HP:0003493	Antinuclear antibody positivity	931	MS4A1	OMIM:613495
HP:0003493	Antinuclear antibody positivity	5336	PLCG2	OMIM:614468
HP:0003493	Antinuclear antibody positivity	6696	SPP1	ORPHA:93552
HP:0003493	Antinuclear antibody positivity	3654	IRAK1	ORPHA:93552
HP:0003493	Antinuclear antibody positivity	51284	TLR7	OMIM:301080
HP:0003493	Antinuclear antibody positivity	3594	IL12RB1	ORPHA:186
HP:0003493	Antinuclear antibody positivity	23534	TNPO3	ORPHA:186
HP:0003493	Antinuclear antibody positivity	3592	IL12A	ORPHA:186
HP:0003493	Antinuclear antibody positivity	6689	SPIB	ORPHA:186
HP:0003493	Antinuclear antibody positivity	5450	POU2AF1	ORPHA:186
HP:0003493	Antinuclear antibody positivity	9966	TNFSF15	ORPHA:186
HP:0003493	Antinuclear antibody positivity	79258	MMEL1	ORPHA:186
HP:0003493	Antinuclear antibody positivity	3663	IRF5	ORPHA:186
HP:0003493	Antinuclear antibody positivity	144811	LACC1	OMIM:618795
HP:0003493	Antinuclear antibody positivity	22861	NLRP1	OMIM:617388
HP:0003493	Antinuclear antibody positivity	1314	COPA	OMIM:616414
HP:0003493	Antinuclear antibody positivity	51371	POMP	OMIM:618048
HP:0003493	Antinuclear antibody positivity	7128	TNFAIP3	OMIM:616744
HP:0003493	Antinuclear antibody positivity	340061	STING1	OMIM:615934
HP:0003493	Antinuclear antibody positivity	10095	ARPC1B	OMIM:617718
HP:0003493	Antinuclear antibody positivity	11277	TREX1	OMIM:610448
HP:0003493	Antinuclear antibody positivity	11277	TREX1	OMIM:152700
HP:0003493	Antinuclear antibody positivity	4313	MMP2	OMIM:259600
HP:0003493	Antinuclear antibody positivity	440275	EIF2AK4	ORPHA:199241
HP:0003493	Antinuclear antibody positivity	8737	RIPK1	OMIM:618852
HP:0003493	Antinuclear antibody positivity	2212	FCGR2A	OMIM:152700
HP:0003493	Antinuclear antibody positivity	2213	FCGR2B	OMIM:152700
HP:0003493	Antinuclear antibody positivity	1493	CTLA4	OMIM:152700
HP:0003493	Antinuclear antibody positivity	1773	DNASE1	OMIM:152700
HP:0003493	Antinuclear antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0003493	Antinuclear antibody positivity	54	ACP5	ORPHA:1855
HP:0003493	Antinuclear antibody positivity	8651	SOCS1	OMIM:619375
HP:0003493	Antinuclear antibody positivity	3930	LBR	OMIM:613471
HP:0003495	GM2-ganglioside accumulation	3073	HEXA	OMIM:272800
HP:0003495	GM2-ganglioside accumulation	2760	GM2A	OMIM:272750
HP:0003496	Increased circulating IgM level	2859	GPR35	ORPHA:171
HP:0003496	Increased circulating IgM level	10507	SEMA4D	ORPHA:171
HP:0003496	Increased circulating IgM level	4485	MST1	ORPHA:171
HP:0003496	Increased circulating IgM level	6925	TCF4	ORPHA:171
HP:0003496	Increased circulating IgM level	200942	KLHDC8B	OMIM:236000
HP:0003496	Increased circulating IgM level	1789	DNMT3B	OMIM:242860
HP:0003496	Increased circulating IgM level	65082	VPS33A	ORPHA:505248
HP:0003496	Increased circulating IgM level	65082	VPS33A	OMIM:617303
HP:0003496	Increased circulating IgM level	90268	OTULIN	OMIM:617099
HP:0003496	Increased circulating IgM level	919	CD247	OMIM:610163
HP:0003496	Increased circulating IgM level	5295	PIK3R1	OMIM:616005
HP:0003496	Increased circulating IgM level	5293	PIK3CD	OMIM:615513
HP:0003496	Increased circulating IgM level	5238	PGM3	OMIM:615816
HP:0003496	Increased circulating IgM level	959	CD40LG	OMIM:308230
HP:0003496	Increased circulating IgM level	8517	IKBKG	OMIM:300291
HP:0003496	Increased circulating IgM level	57379	AICDA	OMIM:605258
HP:0003496	Increased circulating IgM level	7374	UNG	OMIM:608106
HP:0003496	Increased circulating IgM level	958	CD40	OMIM:606843
HP:0003496	Increased circulating IgM level	3594	IL12RB1	ORPHA:186
HP:0003496	Increased circulating IgM level	23534	TNPO3	ORPHA:186
HP:0003496	Increased circulating IgM level	3592	IL12A	ORPHA:186
HP:0003496	Increased circulating IgM level	6689	SPIB	ORPHA:186
HP:0003496	Increased circulating IgM level	5450	POU2AF1	ORPHA:186
HP:0003496	Increased circulating IgM level	9966	TNFSF15	ORPHA:186
HP:0003496	Increased circulating IgM level	79258	MMEL1	ORPHA:186
HP:0003496	Increased circulating IgM level	3663	IRF5	ORPHA:186
HP:0003496	Increased circulating IgM level	56160	NSMCE3	OMIM:617241
HP:0003496	Increased circulating IgM level	7174	TPP2	OMIM:619220
HP:0003496	Increased circulating IgM level	355	FAS	OMIM:601859
HP:0003496	Increased circulating IgM level	356	FASLG	OMIM:601859
HP:0003496	Increased circulating IgM level	3459	IFNGR1	OMIM:209950
HP:0003496	Increased circulating IgM level	843	CASP10	OMIM:603909
HP:0003496	Increased circulating IgM level	10125	RASGRP1	OMIM:618534
HP:0003496	Increased circulating IgM level	84888	SPPL2A	OMIM:619549
HP:0003496	Increased circulating IgM level	331	XIAP	OMIM:308240
HP:0003496	Increased circulating IgM level	4068	SH2D1A	OMIM:308240
HP:0003496	Increased circulating IgM level	4615	MYD88	ORPHA:33226
HP:0003496	Increased circulating IgM level	4615	MYD88	OMIM:153600
HP:0002460	Distal muscle weakness	50717	DCAF8	OMIM:610100
HP:0002460	Distal muscle weakness	2521	FUS	ORPHA:275872
HP:0002460	Distal muscle weakness	2521	FUS	ORPHA:300605
HP:0002460	Distal muscle weakness	23435	TARDBP	ORPHA:275872
HP:0002460	Distal muscle weakness	29110	TBK1	ORPHA:275872
HP:0002460	Distal muscle weakness	3074	HEXB	ORPHA:309162
HP:0002460	Distal muscle weakness	10743	RAI1	ORPHA:477817
HP:0002460	Distal muscle weakness	56704	JPH1	OMIM:607831
HP:0002460	Distal muscle weakness	538	ATP7A	OMIM:300489
HP:0002460	Distal muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0002460	Distal muscle weakness	3508	IGHMBP2	OMIM:604320
HP:0002460	Distal muscle weakness	2673	GFPT1	ORPHA:353327
HP:0002460	Distal muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0002460	Distal muscle weakness	85365	ALG2	ORPHA:353327
HP:0002460	Distal muscle weakness	199857	ALG14	ORPHA:353327
HP:0002460	Distal muscle weakness	5428	POLG	ORPHA:298
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:607459
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:258450
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:603041
HP:0002460	Distal muscle weakness	1890	TYMP	ORPHA:298
HP:0002460	Distal muscle weakness	1890	TYMP	OMIM:603041
HP:0002460	Distal muscle weakness	3980	LIG3	ORPHA:298
HP:0002460	Distal muscle weakness	50484	RRM2B	ORPHA:298
HP:0002460	Distal muscle weakness	2892	GRIA3	OMIM:300699
HP:0002460	Distal muscle weakness	2892	GRIA3	ORPHA:364028
HP:0002460	Distal muscle weakness	4358	MPV17	OMIM:618400
HP:0002460	Distal muscle weakness	4358	MPV17	OMIM:256810
HP:0002460	Distal muscle weakness	57449	PLEKHG5	OMIM:615376
HP:0002460	Distal muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0002460	Distal muscle weakness	274	BIN1	OMIM:255200
HP:0002460	Distal muscle weakness	55157	DARS2	ORPHA:137898
HP:0002460	Distal muscle weakness	4604	MYBPC1	OMIM:618524
HP:0002460	Distal muscle weakness	7920	ABHD16A	OMIM:619735
HP:0002460	Distal muscle weakness	29967	LRP12	OMIM:164310
HP:0002460	Distal muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0002460	Distal muscle weakness	5832	ALDH18A1	OMIM:601162
HP:0002460	Distal muscle weakness	4620	MYH2	OMIM:605637
HP:0002460	Distal muscle weakness	51651	PTRH2	ORPHA:456312
HP:0002460	Distal muscle weakness	51651	PTRH2	OMIM:616263
HP:0002460	Distal muscle weakness	88	ACTN2	OMIM:618654
HP:0002460	Distal muscle weakness	88	ACTN2	OMIM:618655
HP:0002460	Distal muscle weakness	83636	C19orf12	OMIM:614298
HP:0002460	Distal muscle weakness	65998	ZFTA	ORPHA:251636
HP:0002460	Distal muscle weakness	5970	RELA	ORPHA:251636
HP:0002460	Distal muscle weakness	23230	VPS13A	ORPHA:2388
HP:0002460	Distal muscle weakness	9896	FIG4	OMIM:611228
HP:0002460	Distal muscle weakness	10558	SPTLC1	ORPHA:36386
HP:0002460	Distal muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0002460	Distal muscle weakness	10558	SPTLC1	OMIM:162400
HP:0002460	Distal muscle weakness	25923	ATL3	ORPHA:36386
HP:0002460	Distal muscle weakness	5255	PHKA1	OMIM:300559
HP:0002460	Distal muscle weakness	60481	ELOVL5	OMIM:615957
HP:0002460	Distal muscle weakness	60481	ELOVL5	ORPHA:423296
HP:0002460	Distal muscle weakness	8898	MTMR2	OMIM:601382
HP:0002460	Distal muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0002460	Distal muscle weakness	10280	SIGMAR1	OMIM:605726
HP:0002460	Distal muscle weakness	57679	ALS2	ORPHA:300605
HP:0002460	Distal muscle weakness	57679	ALS2	OMIM:205100
HP:0002460	Distal muscle weakness	23095	KIF1B	OMIM:118210
HP:0002460	Distal muscle weakness	11261	CHP1	OMIM:618438
HP:0002460	Distal muscle weakness	5191	PEX7	OMIM:614879
HP:0002460	Distal muscle weakness	8106	PABPN1	OMIM:164300
HP:0002460	Distal muscle weakness	8565	YARS1	OMIM:608323
HP:0002460	Distal muscle weakness	19	ABCA1	ORPHA:31150
HP:0002460	Distal muscle weakness	3178	HNRNPA1	ORPHA:52430
HP:0002460	Distal muscle weakness	3181	HNRNPA2B1	ORPHA:52430
HP:0002460	Distal muscle weakness	5981	RFC1	ORPHA:504476
HP:0002460	Distal muscle weakness	3300	DNAJB2	OMIM:614881
HP:0002460	Distal muscle weakness	7317	UBA1	ORPHA:1145
HP:0002460	Distal muscle weakness	23479	ISCU	OMIM:255125
HP:0002460	Distal muscle weakness	79628	SH3TC2	OMIM:601596
HP:0002460	Distal muscle weakness	79628	SH3TC2	ORPHA:99949
HP:0002460	Distal muscle weakness	9217	VAPB	OMIM:182980
HP:0002460	Distal muscle weakness	9217	VAPB	OMIM:608627
HP:0002460	Distal muscle weakness	56652	TWNK	OMIM:607459
HP:0002460	Distal muscle weakness	23534	TNPO3	OMIM:608423
HP:0002460	Distal muscle weakness	23064	SETX	OMIM:606002
HP:0002460	Distal muscle weakness	23064	SETX	OMIM:602433
HP:0002460	Distal muscle weakness	23064	SETX	ORPHA:357043
HP:0002460	Distal muscle weakness	389827	MYMK	OMIM:254940
HP:0002460	Distal muscle weakness	6310	ATXN1	OMIM:164400
HP:0002460	Distal muscle weakness	8729	GBF1	OMIM:606483
HP:0002460	Distal muscle weakness	58	ACTA1	ORPHA:97240
HP:0002460	Distal muscle weakness	353116	RILPL1	OMIM:619790
HP:0002460	Distal muscle weakness	55906	ZC4H2	OMIM:301041
HP:0002460	Distal muscle weakness	4141	MARS1	OMIM:616280
HP:0002460	Distal muscle weakness	11160	ERLIN2	ORPHA:209951
HP:0002460	Distal muscle weakness	55187	VPS13D	OMIM:607317
HP:0002460	Distal muscle weakness	90678	LRSAM1	OMIM:614436
HP:0002460	Distal muscle weakness	7084	TK2	ORPHA:254875
HP:0002460	Distal muscle weakness	8888	MCM3AP	OMIM:618124
HP:0002460	Distal muscle weakness	5631	PRPS1	OMIM:311070
HP:0002460	Distal muscle weakness	182	JAG1	OMIM:619574
HP:0002460	Distal muscle weakness	1292	COL6A2	OMIM:255600
HP:0002460	Distal muscle weakness	1292	COL6A2	ORPHA:610
HP:0002460	Distal muscle weakness	1292	COL6A2	OMIM:158810
HP:0002460	Distal muscle weakness	64423	INF2	OMIM:614455
HP:0002460	Distal muscle weakness	89874	SLC25A21	OMIM:618811
HP:0002460	Distal muscle weakness	9531	BAG3	OMIM:612954
HP:0002460	Distal muscle weakness	28982	FLVCR1	OMIM:609033
HP:0002460	Distal muscle weakness	81857	MED25	OMIM:605589
HP:0002460	Distal muscle weakness	65260	COA7	OMIM:618387
HP:0002460	Distal muscle weakness	1778	DYNC1H1	OMIM:614228
HP:0002460	Distal muscle weakness	1639	DCTN1	OMIM:607641
HP:0002460	Distal muscle weakness	4287	ATXN3	ORPHA:276244
HP:0002460	Distal muscle weakness	476	ATP1A1	OMIM:618036
HP:0002460	Distal muscle weakness	8292	COLQ	ORPHA:98915
HP:0002460	Distal muscle weakness	3913	LAMB2	ORPHA:98915
HP:0002460	Distal muscle weakness	1786	DNMT1	OMIM:614116
HP:0002460	Distal muscle weakness	54676	GTPBP2	OMIM:617988
HP:0002460	Distal muscle weakness	93587	TRMT10A	ORPHA:391408
HP:0002460	Distal muscle weakness	84919	PPP1R15B	ORPHA:391408
HP:0002460	Distal muscle weakness	6663	SOX10	OMIM:609136
HP:0002460	Distal muscle weakness	3710	ITPR3	OMIM:620111
HP:0002460	Distal muscle weakness	9516	LITAF	OMIM:601098
HP:0002460	Distal muscle weakness	1303	COL12A1	ORPHA:610
HP:0002460	Distal muscle weakness	1291	COL6A1	ORPHA:610
HP:0002460	Distal muscle weakness	1291	COL6A1	OMIM:158810
HP:0002460	Distal muscle weakness	1293	COL6A3	ORPHA:610
HP:0002460	Distal muscle weakness	1293	COL6A3	OMIM:158810
HP:0002460	Distal muscle weakness	26278	SACS	OMIM:270550
HP:0002460	Distal muscle weakness	26092	TOR1AIP1	OMIM:617072
HP:0002460	Distal muscle weakness	1716	DGUOK	OMIM:617070
HP:0002460	Distal muscle weakness	3920	LAMP2	OMIM:300257
HP:0002460	Distal muscle weakness	7515	XRCC1	OMIM:617633
HP:0002460	Distal muscle weakness	60386	SLC25A19	OMIM:613710
HP:0002460	Distal muscle weakness	283	ANG	OMIM:611895
HP:0002460	Distal muscle weakness	8139	GAN	ORPHA:643
HP:0002460	Distal muscle weakness	8139	GAN	OMIM:256850
HP:0002460	Distal muscle weakness	4668	NAGA	OMIM:609242
HP:0002460	Distal muscle weakness	51776	MAP3K20	OMIM:617760
HP:0002460	Distal muscle weakness	16	AARS1	OMIM:613287
HP:0002460	Distal muscle weakness	1371	CPOX	ORPHA:79273
HP:0002460	Distal muscle weakness	3145	HMBS	ORPHA:79276
HP:0002460	Distal muscle weakness	50846	DHH	ORPHA:168563
HP:0002460	Distal muscle weakness	2643	GCH1	ORPHA:98808
HP:0002460	Distal muscle weakness	4929	NR4A2	ORPHA:98808
HP:0002460	Distal muscle weakness	3615	IMPDH2	ORPHA:98808
HP:0002460	Distal muscle weakness	7143	TNR	OMIM:619653
HP:0002460	Distal muscle weakness	122622	ADSS1	OMIM:617030
HP:0002460	Distal muscle weakness	122622	ADSS1	ORPHA:482601
HP:0002460	Distal muscle weakness	23259	DDHD2	OMIM:615033
HP:0002460	Distal muscle weakness	8988	HSPB3	OMIM:613376
HP:0002460	Distal muscle weakness	7415	VCP	ORPHA:435387
HP:0002460	Distal muscle weakness	7415	VCP	OMIM:616687
HP:0002460	Distal muscle weakness	57863	CADM3	OMIM:619519
HP:0002460	Distal muscle weakness	2318	FLNC	ORPHA:63273
HP:0002460	Distal muscle weakness	64856	VWA1	OMIM:619216
HP:0002460	Distal muscle weakness	80208	SPG11	OMIM:616668
HP:0002460	Distal muscle weakness	7273	TTN	ORPHA:609
HP:0002460	Distal muscle weakness	8878	SQSTM1	ORPHA:603
HP:0002460	Distal muscle weakness	7072	TIA1	ORPHA:603
HP:0002460	Distal muscle weakness	81846	SBF2	ORPHA:99956
HP:0002460	Distal muscle weakness	4747	NEFL	OMIM:607684
HP:0002460	Distal muscle weakness	203859	ANO5	OMIM:613319
HP:0002460	Distal muscle weakness	54332	GDAP1	ORPHA:101097
HP:0002460	Distal muscle weakness	773	CACNA1A	ORPHA:569
HP:0002460	Distal muscle weakness	112476	PRRT2	ORPHA:569
HP:0002460	Distal muscle weakness	6323	SCN1A	ORPHA:569
HP:0002460	Distal muscle weakness	477	ATP1A2	ORPHA:569
HP:0002460	Distal muscle weakness	3098	HK1	ORPHA:99953
HP:0002460	Distal muscle weakness	3098	HK1	OMIM:605285
HP:0002460	Distal muscle weakness	8291	DYSF	ORPHA:268
HP:0002460	Distal muscle weakness	4311	MME	ORPHA:497764
HP:0002460	Distal muscle weakness	10397	NDRG1	ORPHA:99950
HP:0002460	Distal muscle weakness	23676	SMPX	OMIM:301075
HP:0002460	Distal muscle weakness	59345	GNB4	OMIM:615185
HP:0002460	Distal muscle weakness	29925	GMPPB	ORPHA:363623
HP:0002460	Distal muscle weakness	6261	RYR1	ORPHA:178145
HP:0002460	Distal muscle weakness	3714	JAG2	OMIM:619566
HP:0002460	Distal muscle weakness	10516	FBLN5	OMIM:619764
HP:0002460	Distal muscle weakness	6652	SORD	OMIM:618912
HP:0002460	Distal muscle weakness	9517	SPTLC2	OMIM:613640
HP:0002460	Distal muscle weakness	7453	WARS1	OMIM:617721
HP:0002460	Distal muscle weakness	22880	MORC2	ORPHA:466768
HP:0002460	Distal muscle weakness	3035	HARS1	ORPHA:488333
HP:0002460	Distal muscle weakness	90523	MLIP	OMIM:620138
HP:0002460	Distal muscle weakness	4000	LMNA	ORPHA:98856
HP:0002460	Distal muscle weakness	91574	MTRFR	ORPHA:320375
HP:0002460	Distal muscle weakness	2137	EXTL3	ORPHA:508533
HP:0002460	Distal muscle weakness	51062	ATL1	ORPHA:100984
HP:0002460	Distal muscle weakness	10020	GNE	OMIM:605820
HP:0002460	Distal muscle weakness	3094	HINT1	ORPHA:324442
HP:0002460	Distal muscle weakness	4137	MAPT	ORPHA:240094
HP:0002460	Distal muscle weakness	9782	MATR3	OMIM:606070
HP:0002460	Distal muscle weakness	4508	MT-ATP6	ORPHA:320360
HP:0002460	Distal muscle weakness	2617	GARS1	ORPHA:139536
HP:0002460	Distal muscle weakness	26580	BSCL2	ORPHA:139536
HP:0002460	Distal muscle weakness	26580	BSCL2	OMIM:619112
HP:0002460	Distal muscle weakness	65055	REEP1	ORPHA:139536
HP:0002460	Distal muscle weakness	11284	PNKP	ORPHA:459033
HP:0002460	Distal muscle weakness	55775	TDP1	ORPHA:94124
HP:0002460	Distal muscle weakness	5339	PLEC	ORPHA:254361
HP:0002460	Distal muscle weakness	7879	RAB7A	OMIM:600882
HP:0002460	Distal muscle weakness	200205	IBA57	ORPHA:468661
HP:0002460	Distal muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0002460	Distal muscle weakness	4625	MYH7	OMIM:160500
HP:0002460	Distal muscle weakness	4625	MYH7	ORPHA:437572
HP:0002460	Distal muscle weakness	3315	HSPB1	OMIM:608634
HP:0002460	Distal muscle weakness	215	ABCD1	ORPHA:139399
HP:0002460	Distal muscle weakness	10908	PNPLA6	OMIM:612020
HP:0002460	Distal muscle weakness	7170	TPM3	OMIM:609284
HP:0002460	Distal muscle weakness	4547	MTTP	ORPHA:14
HP:0002460	Distal muscle weakness	8557	TCAP	OMIM:601954
HP:0002460	Distal muscle weakness	2705	GJB1	OMIM:302800
HP:0002460	Distal muscle weakness	547	KIF1A	OMIM:614213
HP:0002460	Distal muscle weakness	8884	SLC5A6	OMIM:619903
HP:0002460	Distal muscle weakness	55526	DHTKD1	OMIM:615025
HP:0002460	Distal muscle weakness	9131	AIFM1	OMIM:310490
HP:0002460	Distal muscle weakness	5376	PMP22	ORPHA:90658
HP:0002460	Distal muscle weakness	5376	PMP22	ORPHA:98916
HP:0002460	Distal muscle weakness	5376	PMP22	OMIM:145900
HP:0002460	Distal muscle weakness	121512	FGD4	OMIM:609311
HP:0002460	Distal muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0002460	Distal muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0002460	Distal muscle weakness	9990	SLC12A6	OMIM:620068
HP:0002460	Distal muscle weakness	1785	DNM2	OMIM:160150
HP:0002460	Distal muscle weakness	64419	MTMR14	OMIM:160150
HP:0002460	Distal muscle weakness	6305	SBF1	OMIM:615284
HP:0002460	Distal muscle weakness	5375	PMP2	OMIM:618279
HP:0002460	Distal muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0002460	Distal muscle weakness	4649	MYO9A	ORPHA:98914
HP:0002460	Distal muscle weakness	1305	COL13A1	ORPHA:98914
HP:0002460	Distal muscle weakness	1103	CHAT	ORPHA:98914
HP:0002460	Distal muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0002460	Distal muscle weakness	6843	VAMP1	ORPHA:98914
HP:0002460	Distal muscle weakness	375790	AGRN	ORPHA:98914
HP:0002460	Distal muscle weakness	127833	SYT2	ORPHA:98914
HP:0002460	Distal muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0002460	Distal muscle weakness	6616	SNAP25	ORPHA:98914
HP:0002460	Distal muscle weakness	26353	HSPB8	OMIM:158590
HP:0002460	Distal muscle weakness	7428	VHL	ORPHA:892
HP:0002460	Distal muscle weakness	595	CCND1	ORPHA:892
HP:0002460	Distal muscle weakness	23299	BICD2	OMIM:615290
HP:0002460	Distal muscle weakness	11117	EMILIN1	OMIM:620080
HP:0002460	Distal muscle weakness	1674	DES	ORPHA:98909
HP:0002460	Distal muscle weakness	57410	SCYL1	ORPHA:466794
HP:0002460	Distal muscle weakness	126129	CPT1C	ORPHA:444099
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:145900
HP:0002460	Distal muscle weakness	1959	EGR2	OMIM:145900
HP:0002460	Distal muscle weakness	57716	PRX	OMIM:145900
HP:0002460	Distal muscle weakness	9927	MFN2	ORPHA:99947
HP:0002460	Distal muscle weakness	79784	MYH14	ORPHA:397744
HP:0002460	Distal muscle weakness	55958	KLHL9	ORPHA:399081
HP:0002460	Distal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0002460	Distal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0002460	Distal muscle weakness	4703	NEB	ORPHA:399103
HP:0002460	Distal muscle weakness	859	CAV3	ORPHA:488650
HP:0002460	Distal muscle weakness	3032	HADHB	ORPHA:746
HP:0002460	Distal muscle weakness	3030	HADHA	ORPHA:746
HP:0002460	Distal muscle weakness	9499	MYOT	ORPHA:98911
HP:0002460	Distal muscle weakness	9499	MYOT	OMIM:609200
HP:0002460	Distal muscle weakness	59341	TRPV4	OMIM:181405
HP:0002460	Distal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0002460	Distal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0002460	Distal muscle weakness	11155	LDB3	OMIM:609452
HP:0002460	Distal muscle weakness	1757	SARDH	ORPHA:3129
HP:0002460	Distal muscle weakness	2218	FKTN	OMIM:611588
HP:0002460	Distal muscle weakness	2992	GYG1	OMIM:616199
HP:0003498	Disproportionate short stature	2137	EXTL3	ORPHA:508533
HP:0003498	Disproportionate short stature	2137	EXTL3	OMIM:617425
HP:0003498	Disproportionate short stature	4882	NPR2	OMIM:602875
HP:0003498	Disproportionate short stature	4882	NPR2	ORPHA:40
HP:0003498	Disproportionate short stature	5251	PHEX	ORPHA:89936
HP:0003498	Disproportionate short stature	84068	SLC10A7	OMIM:618363
HP:0003498	Disproportionate short stature	100151683	RNU4ATAC	OMIM:210710
HP:0003498	Disproportionate short stature	7476	WNT7A	ORPHA:2879
HP:0003498	Disproportionate short stature	7476	WNT7A	OMIM:276820
HP:0003498	Disproportionate short stature	5116	PCNT	ORPHA:2637
HP:0003498	Disproportionate short stature	5116	PCNT	OMIM:210720
HP:0003498	Disproportionate short stature	65992	DDRGK1	ORPHA:93352
HP:0003498	Disproportionate short stature	1302	COL11A2	ORPHA:1427
HP:0003498	Disproportionate short stature	3549	IHH	OMIM:607778
HP:0003498	Disproportionate short stature	1311	COMP	ORPHA:93308
HP:0003498	Disproportionate short stature	54808	DYM	OMIM:223800
HP:0003498	Disproportionate short stature	54808	DYM	OMIM:607326
HP:0003498	Disproportionate short stature	54808	DYM	ORPHA:239
HP:0003498	Disproportionate short stature	9321	TRIP11	OMIM:200600
HP:0003498	Disproportionate short stature	59341	TRPV4	OMIM:184252
HP:0003498	Disproportionate short stature	59341	TRPV4	ORPHA:93314
HP:0003498	Disproportionate short stature	59341	TRPV4	OMIM:156530
HP:0003498	Disproportionate short stature	6399	TRAPPC2	ORPHA:93284
HP:0003498	Disproportionate short stature	6399	TRAPPC2	OMIM:313400
HP:0003498	Disproportionate short stature	153642	ARSK	OMIM:619698
HP:0003498	Disproportionate short stature	9469	CHST3	ORPHA:263463
HP:0003498	Disproportionate short stature	579	NKX3-2	OMIM:613330
HP:0003498	Disproportionate short stature	89970	RSPRY1	ORPHA:457395
HP:0003498	Disproportionate short stature	2588	GALNS	OMIM:253000
HP:0003498	Disproportionate short stature	2335	FN1	ORPHA:93315
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:93315
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:93316
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:94068
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:485
HP:0003498	Disproportionate short stature	1280	COL2A1	OMIM:200610
HP:0003498	Disproportionate short stature	1280	COL2A1	OMIM:156550
HP:0003498	Disproportionate short stature	755	CFAP410	OMIM:602271
HP:0003498	Disproportionate short stature	2317	FLNB	OMIM:272460
HP:0003498	Disproportionate short stature	411	ARSB	OMIM:253200
HP:0003498	Disproportionate short stature	633	BGN	OMIM:300106
HP:0003498	Disproportionate short stature	83452	RAB33B	OMIM:615222
HP:0003498	Disproportionate short stature	2720	GLB1	OMIM:253010
HP:0003498	Disproportionate short stature	50485	SMARCAL1	ORPHA:1830
HP:0003498	Disproportionate short stature	50485	SMARCAL1	OMIM:242900
HP:0003498	Disproportionate short stature	64132	XYLT2	ORPHA:85194
HP:0003498	Disproportionate short stature	6911	TBX6	OMIM:122600
HP:0003498	Disproportionate short stature	10683	DLL3	OMIM:277300
HP:0003498	Disproportionate short stature	145873	MESP2	OMIM:277300
HP:0003498	Disproportionate short stature	145873	MESP2	OMIM:608681
HP:0003498	Disproportionate short stature	54	ACP5	ORPHA:1855
HP:0003498	Disproportionate short stature	168667	BMPER	OMIM:608022
HP:0003498	Disproportionate short stature	79848	CSPP1	ORPHA:397715
HP:0003498	Disproportionate short stature	9786	KIAA0586	ORPHA:397715
HP:0003498	Disproportionate short stature	2263	FGFR2	OMIM:101200
HP:0003498	Disproportionate short stature	171023	ASXL1	OMIM:605039
HP:0003498	Disproportionate short stature	6473	SHOX	ORPHA:2632
HP:0003498	Disproportionate short stature	3835	KIF22	ORPHA:93360
HP:0003498	Disproportionate short stature	9653	HS2ST1	OMIM:619194
HP:0003498	Disproportionate short stature	4921	DDR2	OMIM:271665
HP:0003498	Disproportionate short stature	9851	KIAA0753	OMIM:619479
HP:0003498	Disproportionate short stature	658	BMPR1B	ORPHA:2098
HP:0003498	Disproportionate short stature	658	BMPR1B	OMIM:609441
HP:0003498	Disproportionate short stature	23169	SLC35D1	ORPHA:3144
HP:0003498	Disproportionate short stature	23169	SLC35D1	OMIM:269250
HP:0003498	Disproportionate short stature	1277	COL1A1	OMIM:259420
HP:0003498	Disproportionate short stature	1277	COL1A1	OMIM:166210
HP:0003498	Disproportionate short stature	1278	COL1A2	OMIM:259420
HP:0003498	Disproportionate short stature	1278	COL1A2	OMIM:166210
HP:0003498	Disproportionate short stature	4148	MATN3	OMIM:608728
HP:0003498	Disproportionate short stature	4148	MATN3	ORPHA:156728
HP:0003498	Disproportionate short stature	55112	DYNC2I1	ORPHA:93271
HP:0003498	Disproportionate short stature	79659	DYNC2H1	ORPHA:93271
HP:0003498	Disproportionate short stature	89891	DYNC2I2	ORPHA:93271
HP:0003498	Disproportionate short stature	249	ALPL	OMIM:241500
HP:0003498	Disproportionate short stature	6662	SOX9	OMIM:114290
HP:0003498	Disproportionate short stature	124583	CANT1	OMIM:251450
HP:0003498	Disproportionate short stature	124583	CANT1	ORPHA:1425
HP:0003498	Disproportionate short stature	64175	P3H1	OMIM:610915
HP:0003498	Disproportionate short stature	1300	COL10A1	ORPHA:174
HP:0003498	Disproportionate short stature	2121	EVC	OMIM:225500
HP:0003498	Disproportionate short stature	132884	EVC2	OMIM:225500
HP:0003498	Disproportionate short stature	3339	HSPG2	OMIM:224410
HP:0003498	Disproportionate short stature	11014	KDELR2	OMIM:619131
HP:0003498	Disproportionate short stature	23184	MESD	OMIM:618644
HP:0003498	Disproportionate short stature	5479	PPIB	OMIM:259440
HP:0003498	Disproportionate short stature	64359	NXN	ORPHA:1507
HP:0003498	Disproportionate short stature	4920	ROR2	ORPHA:1507
HP:0003498	Disproportionate short stature	64116	SLC39A8	ORPHA:468699
HP:0003498	Disproportionate short stature	64131	XYLT1	ORPHA:1425
HP:0003498	Disproportionate short stature	55790	CSGALNACT1	ORPHA:1425
HP:0003498	Disproportionate short stature	406932	MIR140	OMIM:618618
HP:0003498	Disproportionate short stature	5573	PRKAR1A	OMIM:101800
HP:0003498	Disproportionate short stature	286053	NSMCE2	ORPHA:436182
HP:0003498	Disproportionate short stature	7518	XRCC4	ORPHA:436182
HP:0003498	Disproportionate short stature	1718	DHCR24	OMIM:602398
HP:0003498	Disproportionate short stature	57539	WDR35	OMIM:613610
HP:0003498	Disproportionate short stature	57539	WDR35	ORPHA:1515
HP:0003498	Disproportionate short stature	145173	B3GLCT	ORPHA:709
HP:0003498	Disproportionate short stature	145173	B3GLCT	OMIM:261540
HP:0003498	Disproportionate short stature	10586	MAB21L2	OMIM:615877
HP:0003498	Disproportionate short stature	1836	SLC26A2	ORPHA:56304
HP:0003498	Disproportionate short stature	1836	SLC26A2	ORPHA:93307
HP:0003498	Disproportionate short stature	8540	AGPS	OMIM:600121
HP:0003498	Disproportionate short stature	8200	GDF5	OMIM:228900
HP:0003498	Disproportionate short stature	8443	GNPAT	OMIM:222765
HP:0003498	Disproportionate short stature	8942	KYNU	OMIM:617661
HP:0003498	Disproportionate short stature	114803	MYSM1	OMIM:618116
HP:0003498	Disproportionate short stature	1717	DHCR7	ORPHA:818
HP:0003498	Disproportionate short stature	176	ACAN	OMIM:612813
HP:0003498	Disproportionate short stature	176	ACAN	ORPHA:171866
HP:0003498	Disproportionate short stature	112752	IFT43	ORPHA:1515
HP:0003498	Disproportionate short stature	112752	IFT43	OMIM:614099
HP:0003498	Disproportionate short stature	51098	IFT52	ORPHA:1515
HP:0003498	Disproportionate short stature	55764	IFT122	ORPHA:1515
HP:0003498	Disproportionate short stature	55764	IFT122	OMIM:218330
HP:0003498	Disproportionate short stature	57728	WDR19	ORPHA:1515
HP:0003498	Disproportionate short stature	57728	WDR19	OMIM:614376
HP:0003498	Disproportionate short stature	9382	COG1	OMIM:611209
HP:0003498	Disproportionate short stature	9382	COG1	ORPHA:263508
HP:0003498	Disproportionate short stature	6023	RMRP	ORPHA:175
HP:0003498	Disproportionate short stature	6023	RMRP	OMIM:607095
HP:0003498	Disproportionate short stature	10082	GPC6	OMIM:258315
HP:0003498	Disproportionate short stature	10082	GPC6	ORPHA:93329
HP:0003498	Disproportionate short stature	90993	CREB3L1	OMIM:616229
HP:0003498	Disproportionate short stature	5191	PEX7	OMIM:215100
HP:0003498	Disproportionate short stature	79087	ALG12	OMIM:607143
HP:0003498	Disproportionate short stature	2261	FGFR3	ORPHA:15
HP:0003498	Disproportionate short stature	2261	FGFR3	OMIM:616482
HP:0003498	Disproportionate short stature	2261	FGFR3	OMIM:100800
HP:0003498	Disproportionate short stature	372	ARCN1	OMIM:617164
HP:0003498	Disproportionate short stature	10013	HDAC6	OMIM:300863
HP:0003498	Disproportionate short stature	10013	HDAC6	ORPHA:163966
HP:0003498	Disproportionate short stature	5745	PTH1R	ORPHA:50945
HP:0003498	Disproportionate short stature	4297	KMT2A	ORPHA:319182
HP:0003498	Disproportionate short stature	1301	COL11A1	OMIM:228520
HP:0003498	Disproportionate short stature	1301	COL11A1	ORPHA:440354
HP:0003498	Disproportionate short stature	2475	MTOR	OMIM:616638
HP:0003498	Disproportionate short stature	3930	LBR	OMIM:618019
HP:0003498	Disproportionate short stature	3930	LBR	OMIM:215140
HP:0003498	Disproportionate short stature	3930	LBR	ORPHA:1426
HP:0003498	Disproportionate short stature	4322	MMP13	OMIM:602111
HP:0003498	Disproportionate short stature	5593	PRKG2	OMIM:619638
HP:0003498	Disproportionate short stature	5593	PRKG2	OMIM:619636
HP:0003498	Disproportionate short stature	91461	PKDCC	OMIM:618821
HP:0003498	Disproportionate short stature	4796	TONSL	ORPHA:93357
HP:0003498	Disproportionate short stature	4796	TONSL	OMIM:271510
HP:0003498	Disproportionate short stature	145258	GSC	OMIM:602471
HP:0003498	Disproportionate short stature	51360	MBTPS2	OMIM:301014
HP:0003498	Disproportionate short stature	79796	ALG9	ORPHA:79328
HP:0003498	Disproportionate short stature	3636	INPPL1	OMIM:258480
HP:0003498	Disproportionate short stature	5130	PCYT1A	ORPHA:85167
HP:0003498	Disproportionate short stature	5130	PCYT1A	OMIM:608940
HP:0003498	Disproportionate short stature	9702	CEP57	OMIM:614114
HP:0003498	Disproportionate short stature	2260	FGFR1	ORPHA:2645
HP:0003498	Disproportionate short stature	2260	FGFR1	OMIM:166250
HP:0003498	Disproportionate short stature	23387	SIK3	OMIM:618162
HP:0003498	Disproportionate short stature	153241	CEP120	OMIM:616300
HP:0003498	Disproportionate short stature	10491	CRTAP	OMIM:610682
HP:0003498	Disproportionate short stature	7474	WNT5A	OMIM:180700
HP:0003498	Disproportionate short stature	1855	DVL1	OMIM:180700
HP:0003498	Disproportionate short stature	10682	EBP	OMIM:302960
HP:0003498	Disproportionate short stature	1513	CTSK	ORPHA:763
HP:0003498	Disproportionate short stature	26229	B3GAT3	OMIM:245600
HP:0003498	Disproportionate short stature	6913	TBX15	OMIM:260660
HP:0003498	Disproportionate short stature	9742	IFT140	OMIM:266920
HP:0003498	Disproportionate short stature	81570	CLPB	OMIM:616271
HP:0003498	Disproportionate short stature	2535	FZD2	ORPHA:93328
HP:0003498	Disproportionate short stature	57560	IFT80	OMIM:611263
HP:0003498	Disproportionate short stature	25886	POC1A	OMIM:614813
HP:0003498	Disproportionate short stature	871	SERPINH1	OMIM:613848
HP:0003498	Disproportionate short stature	2879	GPX4	OMIM:250220
HP:0003498	Disproportionate short stature	5566	PRKACA	ORPHA:289
HP:0003498	Disproportionate short stature	5567	PRKACB	ORPHA:289
HP:0003498	Disproportionate short stature	2735	GLI1	ORPHA:289
HP:0003498	Disproportionate short stature	51626	DYNC2LI1	ORPHA:289
HP:0003498	Disproportionate short stature	8838	CCN6	ORPHA:1159
HP:0003498	Disproportionate short stature	22827	PUF60	ORPHA:508488
HP:0003498	Disproportionate short stature	2972	BRF1	ORPHA:444072
HP:0003508	Proportionate short stature	1795	DOCK3	OMIM:618292
HP:0003508	Proportionate short stature	5573	PRKAR1A	ORPHA:280651
HP:0003508	Proportionate short stature	5144	PDE4D	ORPHA:280651
HP:0003508	Proportionate short stature	5144	PDE4D	OMIM:614613
HP:0003508	Proportionate short stature	7703	PCGF2	OMIM:618371
HP:0003508	Proportionate short stature	1298	COL9A2	OMIM:600204
HP:0003508	Proportionate short stature	2245	FGD1	OMIM:305400
HP:0003508	Proportionate short stature	50515	CHST11	OMIM:618167
HP:0003508	Proportionate short stature	818	CAMK2G	OMIM:618522
HP:0003508	Proportionate short stature	1299	COL9A3	OMIM:600969
HP:0003508	Proportionate short stature	2121	EVC	OMIM:193530
HP:0003508	Proportionate short stature	2121	EVC	ORPHA:952
HP:0003508	Proportionate short stature	132884	EVC2	OMIM:193530
HP:0003508	Proportionate short stature	132884	EVC2	ORPHA:952
HP:0003508	Proportionate short stature	3930	LBR	OMIM:169400
HP:0003508	Proportionate short stature	3930	LBR	OMIM:618019
HP:0003508	Proportionate short stature	4148	MATN3	ORPHA:93311
HP:0003508	Proportionate short stature	176	ACAN	ORPHA:93283
HP:0003508	Proportionate short stature	176	ACAN	OMIM:608361
HP:0003508	Proportionate short stature	1300	COL10A1	OMIM:156500
HP:0003508	Proportionate short stature	6905	TBCE	OMIM:244460
HP:0003508	Proportionate short stature	6651	SON	ORPHA:500150
HP:0003508	Proportionate short stature	415	ARSL	ORPHA:79345
HP:0003508	Proportionate short stature	6340	SCNN1G	ORPHA:171876
HP:0003508	Proportionate short stature	6337	SCNN1A	ORPHA:171876
HP:0003508	Proportionate short stature	6338	SCNN1B	ORPHA:171876
HP:0003508	Proportionate short stature	7086	TKT	OMIM:617044
HP:0003508	Proportionate short stature	7086	TKT	ORPHA:488618
HP:0003508	Proportionate short stature	375056	MIA3	OMIM:619269
HP:0003508	Proportionate short stature	4882	NPR2	OMIM:616255
HP:0003508	Proportionate short stature	545	ATR	OMIM:210600
HP:0003508	Proportionate short stature	10472	ZBTB18	OMIM:612337
HP:0003508	Proportionate short stature	3033	HADH	ORPHA:71212
HP:0003508	Proportionate short stature	93587	TRMT10A	ORPHA:391408
HP:0003508	Proportionate short stature	84919	PPP1R15B	ORPHA:391408
HP:0003508	Proportionate short stature	81794	ADAMTS10	OMIM:277600
HP:0003508	Proportionate short stature	1499	CTNNB1	ORPHA:54595
HP:0003508	Proportionate short stature	673	BRAF	ORPHA:54595
HP:0003508	Proportionate short stature	2074	ERCC6	OMIM:133540
HP:0003508	Proportionate short stature	2074	ERCC6	OMIM:278800
HP:0003508	Proportionate short stature	51574	LARP7	OMIM:615071
HP:0003508	Proportionate short stature	286053	NSMCE2	OMIM:617253
HP:0003508	Proportionate short stature	1280	COL2A1	ORPHA:93316
HP:0003508	Proportionate short stature	1280	COL2A1	OMIM:184250
HP:0003508	Proportionate short stature	118429	ANTXR2	ORPHA:2176
HP:0003508	Proportionate short stature	55733	HHAT	OMIM:600092
HP:0003508	Proportionate short stature	55733	HHAT	ORPHA:1422
HP:0003508	Proportionate short stature	23363	OBSL1	OMIM:612921
HP:0003508	Proportionate short stature	59341	TRPV4	ORPHA:93314
HP:0003508	Proportionate short stature	59341	TRPV4	OMIM:156530
HP:0003508	Proportionate short stature	59341	TRPV4	OMIM:168400
HP:0003508	Proportionate short stature	59341	TRPV4	ORPHA:2635
HP:0003508	Proportionate short stature	64220	STRA6	OMIM:601186
HP:0003508	Proportionate short stature	2972	BRF1	ORPHA:444072
HP:0003508	Proportionate short stature	2317	FLNB	OMIM:112310
HP:0003508	Proportionate short stature	3313	HSPA9	OMIM:616854
HP:0003508	Proportionate short stature	10908	PNPLA6	OMIM:275400
HP:0003508	Proportionate short stature	150468	CKAP2L	ORPHA:3255
HP:0003508	Proportionate short stature	10683	DLL3	OMIM:277300
HP:0003508	Proportionate short stature	145873	MESP2	OMIM:277300
HP:0003508	Proportionate short stature	5476	CTSA	OMIM:256540
HP:0003508	Proportionate short stature	51360	MBTPS2	ORPHA:2273
HP:0003508	Proportionate short stature	51360	MBTPS2	OMIM:301014
HP:0003508	Proportionate short stature	23250	ATP11A	OMIM:619851
HP:0003508	Proportionate short stature	6777	STAT5B	OMIM:245590
HP:0003508	Proportionate short stature	55037	PTCD3	OMIM:619057
HP:0003508	Proportionate short stature	2058	EPRS1	OMIM:617951
HP:0003508	Proportionate short stature	64131	XYLT1	OMIM:615777
HP:0003508	Proportionate short stature	64131	XYLT1	ORPHA:1425
HP:0003508	Proportionate short stature	92344	GORAB	OMIM:231070
HP:0003508	Proportionate short stature	92344	GORAB	ORPHA:2078
HP:0003508	Proportionate short stature	2200	FBN1	ORPHA:969
HP:0003508	Proportionate short stature	2200	FBN1	OMIM:102370
HP:0003508	Proportionate short stature	4054	LTBP3	ORPHA:969
HP:0003508	Proportionate short stature	9719	ADAMTSL2	ORPHA:1901
HP:0003508	Proportionate short stature	9509	ADAMTS2	ORPHA:1901
HP:0003508	Proportionate short stature	157570	ESCO2	ORPHA:2319
HP:0003508	Proportionate short stature	5191	PEX7	OMIM:215100
HP:0003508	Proportionate short stature	81620	CDT1	ORPHA:2554
HP:0003508	Proportionate short stature	5000	ORC4	ORPHA:2554
HP:0003508	Proportionate short stature	23594	ORC6	ORPHA:2554
HP:0003508	Proportionate short stature	8318	CDC45	ORPHA:2554
HP:0003508	Proportionate short stature	990	CDC6	ORPHA:2554
HP:0003508	Proportionate short stature	4998	ORC1	ORPHA:2554
HP:0003508	Proportionate short stature	51053	GMNN	ORPHA:2554
HP:0003508	Proportionate short stature	51053	GMNN	OMIM:616835
HP:0003508	Proportionate short stature	3339	HSPG2	ORPHA:1865
HP:0003508	Proportionate short stature	3339	HSPG2	OMIM:224410
HP:0003508	Proportionate short stature	54539	NDUFB11	ORPHA:2556
HP:0003508	Proportionate short stature	1349	COX7B	ORPHA:2556
HP:0003508	Proportionate short stature	3052	HCCS	ORPHA:2556
HP:0003508	Proportionate short stature	9401	RECQL4	OMIM:218600
HP:0003508	Proportionate short stature	2688	GH1	OMIM:262400
HP:0003508	Proportionate short stature	2688	GH1	OMIM:173100
HP:0003508	Proportionate short stature	26175	LYSET	OMIM:619345
HP:0003508	Proportionate short stature	1311	COMP	OMIM:132400
HP:0003508	Proportionate short stature	51199	NIN	OMIM:614851
HP:0003508	Proportionate short stature	6023	RMRP	OMIM:607095
HP:0003508	Proportionate short stature	9419	CRIPT	OMIM:615789
HP:0003508	Proportionate short stature	139285	AMER1	ORPHA:2780
HP:0003508	Proportionate short stature	64374	SIL1	ORPHA:559
HP:0003508	Proportionate short stature	51763	INPP5K	ORPHA:559
HP:0003508	Proportionate short stature	6911	TBX6	OMIM:122600
HP:0003508	Proportionate short stature	6911	TBX6	ORPHA:1797
HP:0003508	Proportionate short stature	57167	SALL4	ORPHA:2307
HP:0003508	Proportionate short stature	6885	MAP3K7	ORPHA:3238
HP:0003508	Proportionate short stature	2261	FGFR3	OMIM:616482
HP:0003508	Proportionate short stature	1857	DVL3	ORPHA:3107
HP:0003508	Proportionate short stature	7474	WNT5A	ORPHA:3107
HP:0003508	Proportionate short stature	1855	DVL1	ORPHA:3107
HP:0003508	Proportionate short stature	2535	FZD2	ORPHA:3107
HP:0003508	Proportionate short stature	9791	PTDSS1	ORPHA:2658
HP:0003508	Proportionate short stature	80152	CENPT	OMIM:618702
HP:0003508	Proportionate short stature	65992	DDRGK1	ORPHA:93352
HP:0003508	Proportionate short stature	25914	RTTN	ORPHA:468631
HP:0003508	Proportionate short stature	6595	SMARCA2	ORPHA:3051
HP:0003508	Proportionate short stature	1718	DHCR24	ORPHA:35107
HP:0003508	Proportionate short stature	2692	GHRHR	OMIM:618157
HP:0003508	Proportionate short stature	2690	GHR	OMIM:262500
HP:0003508	Proportionate short stature	2690	GHR	ORPHA:633
HP:0003508	Proportionate short stature	5130	PCYT1A	ORPHA:85167
HP:0003508	Proportionate short stature	2260	FGFR1	ORPHA:2645
HP:0003508	Proportionate short stature	2260	FGFR1	OMIM:166250
HP:0003508	Proportionate short stature	3832	KIF11	ORPHA:2526
HP:0003508	Proportionate short stature	124583	CANT1	OMIM:251450
HP:0003508	Proportionate short stature	124583	CANT1	ORPHA:1425
HP:0003508	Proportionate short stature	126792	B3GALT6	OMIM:271640
HP:0003508	Proportionate short stature	5295	PIK3R1	ORPHA:3163
HP:0003508	Proportionate short stature	5745	PTH1R	OMIM:156400
HP:0003508	Proportionate short stature	3423	IDS	OMIM:309900
HP:0003508	Proportionate short stature	100151683	RNU4ATAC	ORPHA:2636
HP:0003508	Proportionate short stature	6389	SDHA	ORPHA:3208
HP:0003508	Proportionate short stature	6390	SDHB	ORPHA:3208
HP:0003508	Proportionate short stature	6392	SDHD	ORPHA:3208
HP:0003508	Proportionate short stature	644096	SDHAF1	ORPHA:3208
HP:0003508	Proportionate short stature	6137	RPL13	OMIM:618728
HP:0003508	Proportionate short stature	2720	GLB1	OMIM:230500
HP:0003508	Proportionate short stature	4052	LTBP1	ORPHA:90349
HP:0003508	Proportionate short stature	30008	EFEMP2	ORPHA:90349
HP:0003508	Proportionate short stature	10516	FBLN5	ORPHA:90349
HP:0003508	Proportionate short stature	55835	CENPJ	OMIM:613676
HP:0003508	Proportionate short stature	5831	PYCR1	ORPHA:2078
HP:0003508	Proportionate short stature	1788	DNMT3A	OMIM:618724
HP:0003508	Proportionate short stature	1836	SLC26A2	ORPHA:93298
HP:0003508	Proportionate short stature	63901	FAM111A	OMIM:127000
HP:0003508	Proportionate short stature	9321	TRIP11	ORPHA:93299
HP:0003508	Proportionate short stature	2072	ERCC4	OMIM:610965
HP:0003508	Proportionate short stature	23522	KAT6B	ORPHA:3047
HP:0003508	Proportionate short stature	166929	SGMS2	OMIM:126550
HP:0003508	Proportionate short stature	26123	TCTN3	ORPHA:2753
HP:0003508	Proportionate short stature	55790	CSGALNACT1	ORPHA:1425
HP:0003508	Proportionate short stature	6473	SHOX	ORPHA:2632
HP:0003508	Proportionate short stature	1749	DLX5	OMIM:220600
HP:0003508	Proportionate short stature	3636	INPPL1	ORPHA:2746
HP:0003508	Proportionate short stature	25871	NEPRO	OMIM:618853
HP:0003508	Proportionate short stature	5426	POLE	OMIM:618336
HP:0003508	Proportionate short stature	63895	PIEZO2	ORPHA:2461
HP:0003508	Proportionate short stature	3480	IGF1R	OMIM:270450
HP:0003508	Proportionate short stature	1278	COL1A2	ORPHA:1899
HP:0003508	Proportionate short stature	1277	COL1A1	ORPHA:1899
HP:0003508	Proportionate short stature	54808	DYM	ORPHA:239
HP:0003508	Proportionate short stature	4089	SMAD4	ORPHA:2588
HP:0003508	Proportionate short stature	85465	SELENOI	ORPHA:506353
HP:0003508	Proportionate short stature	91252	SLC39A13	ORPHA:157965
HP:0003508	Proportionate short stature	91252	SLC39A13	OMIM:612350
HP:0003508	Proportionate short stature	860	RUNX2	OMIM:119600
HP:0003508	Proportionate short stature	3239	HOXD13	OMIM:113300
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	OMIM:223800
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	OMIM:607326
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	ORPHA:239
HP:0003521	Disproportionate short-trunk short stature	9321	TRIP11	OMIM:200600
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	OMIM:184252
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	ORPHA:93314
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	OMIM:156530
HP:0003521	Disproportionate short-trunk short stature	6399	TRAPPC2	ORPHA:93284
HP:0003521	Disproportionate short-trunk short stature	6399	TRAPPC2	OMIM:313400
HP:0003521	Disproportionate short-trunk short stature	153642	ARSK	OMIM:619698
HP:0003521	Disproportionate short-trunk short stature	9469	CHST3	ORPHA:263463
HP:0003521	Disproportionate short-trunk short stature	579	NKX3-2	OMIM:613330
HP:0003521	Disproportionate short-trunk short stature	89970	RSPRY1	ORPHA:457395
HP:0003521	Disproportionate short-trunk short stature	2588	GALNS	OMIM:253000
HP:0003521	Disproportionate short-trunk short stature	2335	FN1	ORPHA:93315
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:93315
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:93316
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:94068
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:485
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	OMIM:200610
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	OMIM:156550
HP:0003521	Disproportionate short-trunk short stature	755	CFAP410	OMIM:602271
HP:0003521	Disproportionate short-trunk short stature	2317	FLNB	OMIM:272460
HP:0003521	Disproportionate short-trunk short stature	411	ARSB	OMIM:253200
HP:0003521	Disproportionate short-trunk short stature	633	BGN	OMIM:300106
HP:0003521	Disproportionate short-trunk short stature	83452	RAB33B	OMIM:615222
HP:0003521	Disproportionate short-trunk short stature	2720	GLB1	OMIM:253010
HP:0003521	Disproportionate short-trunk short stature	50485	SMARCAL1	ORPHA:1830
HP:0003521	Disproportionate short-trunk short stature	50485	SMARCAL1	OMIM:242900
HP:0003521	Disproportionate short-trunk short stature	64132	XYLT2	ORPHA:85194
HP:0003521	Disproportionate short-trunk short stature	6911	TBX6	OMIM:122600
HP:0003521	Disproportionate short-trunk short stature	10683	DLL3	OMIM:277300
HP:0003521	Disproportionate short-trunk short stature	145873	MESP2	OMIM:277300
HP:0003521	Disproportionate short-trunk short stature	145873	MESP2	OMIM:608681
HP:0003521	Disproportionate short-trunk short stature	54	ACP5	ORPHA:1855
HP:0003521	Disproportionate short-trunk short stature	168667	BMPER	OMIM:608022
HP:0003521	Disproportionate short-trunk short stature	3835	KIF22	ORPHA:93360
HP:0003521	Disproportionate short-trunk short stature	8838	CCN6	ORPHA:1159
HP:0003521	Disproportionate short-trunk short stature	22827	PUF60	ORPHA:508488
HP:0003521	Disproportionate short-trunk short stature	2972	BRF1	ORPHA:444072
HP:0004322	Short stature	3170	FOXA2	ORPHA:95494
HP:0004322	Short stature	2137	EXTL3	ORPHA:508533
HP:0004322	Short stature	2137	EXTL3	OMIM:617425
HP:0004322	Short stature	4882	NPR2	OMIM:602875
HP:0004322	Short stature	4882	NPR2	ORPHA:40
HP:0004322	Short stature	1795	DOCK3	OMIM:618292
HP:0004322	Short stature	7703	PCGF2	OMIM:618371
HP:0004322	Short stature	50515	CHST11	OMIM:618167
HP:0004322	Short stature	6340	SCNN1G	ORPHA:171876
HP:0004322	Short stature	6337	SCNN1A	ORPHA:171876
HP:0004322	Short stature	6338	SCNN1B	ORPHA:171876
HP:0004322	Short stature	7086	TKT	OMIM:617044
HP:0004322	Short stature	7086	TKT	ORPHA:488618
HP:0004322	Short stature	375056	MIA3	OMIM:619269
HP:0004322	Short stature	3033	HADH	ORPHA:71212
HP:0004322	Short stature	1499	CTNNB1	ORPHA:54595
HP:0004322	Short stature	2074	ERCC6	OMIM:133540
HP:0004322	Short stature	2074	ERCC6	OMIM:278800
HP:0004322	Short stature	51574	LARP7	OMIM:615071
HP:0004322	Short stature	286053	NSMCE2	OMIM:617253
HP:0004322	Short stature	1280	COL2A1	ORPHA:93316
HP:0004322	Short stature	1280	COL2A1	OMIM:184250
HP:0004322	Short stature	118429	ANTXR2	ORPHA:2176
HP:0004322	Short stature	55733	HHAT	OMIM:600092
HP:0004322	Short stature	55733	HHAT	ORPHA:1422
HP:0004322	Short stature	23363	OBSL1	OMIM:612921
HP:0004322	Short stature	59341	TRPV4	ORPHA:93314
HP:0004322	Short stature	59341	TRPV4	OMIM:156530
HP:0004322	Short stature	59341	TRPV4	OMIM:168400
HP:0004322	Short stature	59341	TRPV4	ORPHA:2635
HP:0004322	Short stature	64220	STRA6	OMIM:601186
HP:0004322	Short stature	2972	BRF1	ORPHA:444072
HP:0004322	Short stature	2317	FLNB	OMIM:112310
HP:0004322	Short stature	3313	HSPA9	OMIM:616854
HP:0004322	Short stature	10908	PNPLA6	OMIM:275400
HP:0004322	Short stature	150468	CKAP2L	ORPHA:3255
HP:0004322	Short stature	10683	DLL3	OMIM:277300
HP:0004322	Short stature	145873	MESP2	OMIM:277300
HP:0004322	Short stature	5476	CTSA	OMIM:256540
HP:0004322	Short stature	51360	MBTPS2	ORPHA:2273
HP:0004322	Short stature	51360	MBTPS2	OMIM:301014
HP:0004322	Short stature	23250	ATP11A	OMIM:619851
HP:0004322	Short stature	6777	STAT5B	OMIM:245590
HP:0004322	Short stature	55037	PTCD3	OMIM:619057
HP:0004322	Short stature	2058	EPRS1	OMIM:617951
HP:0004322	Short stature	64131	XYLT1	OMIM:615777
HP:0004322	Short stature	64131	XYLT1	ORPHA:1425
HP:0004322	Short stature	92344	GORAB	OMIM:231070
HP:0004322	Short stature	92344	GORAB	ORPHA:2078
HP:0004322	Short stature	2200	FBN1	ORPHA:969
HP:0004322	Short stature	2200	FBN1	OMIM:102370
HP:0004322	Short stature	4054	LTBP3	ORPHA:969
HP:0004322	Short stature	9719	ADAMTSL2	ORPHA:1901
HP:0004322	Short stature	9509	ADAMTS2	ORPHA:1901
HP:0004322	Short stature	157570	ESCO2	ORPHA:2319
HP:0004322	Short stature	5191	PEX7	OMIM:215100
HP:0004322	Short stature	81620	CDT1	ORPHA:2554
HP:0004322	Short stature	5000	ORC4	ORPHA:2554
HP:0004322	Short stature	23594	ORC6	ORPHA:2554
HP:0004322	Short stature	8318	CDC45	ORPHA:2554
HP:0004322	Short stature	990	CDC6	ORPHA:2554
HP:0004322	Short stature	4998	ORC1	ORPHA:2554
HP:0004322	Short stature	51053	GMNN	ORPHA:2554
HP:0004322	Short stature	51053	GMNN	OMIM:616835
HP:0004322	Short stature	3339	HSPG2	ORPHA:1865
HP:0004322	Short stature	3339	HSPG2	OMIM:224410
HP:0004322	Short stature	54539	NDUFB11	ORPHA:2556
HP:0004322	Short stature	1349	COX7B	ORPHA:2556
HP:0004322	Short stature	3052	HCCS	ORPHA:2556
HP:0004322	Short stature	9401	RECQL4	OMIM:218600
HP:0004322	Short stature	2688	GH1	OMIM:262400
HP:0004322	Short stature	2688	GH1	OMIM:173100
HP:0004322	Short stature	26175	LYSET	OMIM:619345
HP:0004322	Short stature	1311	COMP	OMIM:132400
HP:0004322	Short stature	51199	NIN	OMIM:614851
HP:0004322	Short stature	6023	RMRP	OMIM:607095
HP:0004322	Short stature	9419	CRIPT	OMIM:615789
HP:0004322	Short stature	139285	AMER1	ORPHA:2780
HP:0004322	Short stature	64374	SIL1	ORPHA:559
HP:0004322	Short stature	51763	INPP5K	ORPHA:559
HP:0004322	Short stature	6911	TBX6	OMIM:122600
HP:0004322	Short stature	6911	TBX6	ORPHA:1797
HP:0004322	Short stature	57167	SALL4	ORPHA:2307
HP:0004322	Short stature	6885	MAP3K7	ORPHA:3238
HP:0004322	Short stature	2261	FGFR3	OMIM:616482
HP:0004322	Short stature	1857	DVL3	ORPHA:3107
HP:0004322	Short stature	7474	WNT5A	ORPHA:3107
HP:0004322	Short stature	1855	DVL1	ORPHA:3107
HP:0004322	Short stature	2535	FZD2	ORPHA:3107
HP:0004322	Short stature	9791	PTDSS1	ORPHA:2658
HP:0004322	Short stature	80152	CENPT	OMIM:618702
HP:0004322	Short stature	65992	DDRGK1	ORPHA:93352
HP:0004322	Short stature	25914	RTTN	ORPHA:468631
HP:0004322	Short stature	6595	SMARCA2	ORPHA:3051
HP:0004322	Short stature	1718	DHCR24	ORPHA:35107
HP:0004322	Short stature	2692	GHRHR	OMIM:618157
HP:0004322	Short stature	2690	GHR	OMIM:262500
HP:0004322	Short stature	2690	GHR	ORPHA:633
HP:0004322	Short stature	5130	PCYT1A	ORPHA:85167
HP:0004322	Short stature	2260	FGFR1	ORPHA:2645
HP:0004322	Short stature	2260	FGFR1	OMIM:166250
HP:0004322	Short stature	3832	KIF11	ORPHA:2526
HP:0004322	Short stature	124583	CANT1	OMIM:251450
HP:0004322	Short stature	124583	CANT1	ORPHA:1425
HP:0004322	Short stature	126792	B3GALT6	OMIM:271640
HP:0004322	Short stature	5295	PIK3R1	ORPHA:3163
HP:0004322	Short stature	5745	PTH1R	OMIM:156400
HP:0004322	Short stature	3423	IDS	OMIM:309900
HP:0004322	Short stature	100151683	RNU4ATAC	ORPHA:2636
HP:0004322	Short stature	6389	SDHA	ORPHA:3208
HP:0004322	Short stature	6390	SDHB	ORPHA:3208
HP:0004322	Short stature	6392	SDHD	ORPHA:3208
HP:0004322	Short stature	644096	SDHAF1	ORPHA:3208
HP:0004322	Short stature	6137	RPL13	OMIM:618728
HP:0004322	Short stature	2720	GLB1	OMIM:230500
HP:0004322	Short stature	4052	LTBP1	ORPHA:90349
HP:0004322	Short stature	30008	EFEMP2	ORPHA:90349
HP:0004322	Short stature	10516	FBLN5	ORPHA:90349
HP:0004322	Short stature	55835	CENPJ	OMIM:613676
HP:0004322	Short stature	5831	PYCR1	ORPHA:2078
HP:0004322	Short stature	1788	DNMT3A	OMIM:618724
HP:0004322	Short stature	1836	SLC26A2	ORPHA:93298
HP:0004322	Short stature	63901	FAM111A	OMIM:127000
HP:0004322	Short stature	9321	TRIP11	ORPHA:93299
HP:0004322	Short stature	2072	ERCC4	OMIM:610965
HP:0004322	Short stature	23522	KAT6B	ORPHA:3047
HP:0004322	Short stature	166929	SGMS2	OMIM:126550
HP:0004322	Short stature	26123	TCTN3	ORPHA:2753
HP:0004322	Short stature	55790	CSGALNACT1	ORPHA:1425
HP:0004322	Short stature	6473	SHOX	ORPHA:2632
HP:0004322	Short stature	1749	DLX5	OMIM:220600
HP:0004322	Short stature	3636	INPPL1	ORPHA:2746
HP:0004322	Short stature	25871	NEPRO	OMIM:618853
HP:0004322	Short stature	5426	POLE	OMIM:618336
HP:0004322	Short stature	63895	PIEZO2	ORPHA:2461
HP:0004322	Short stature	3480	IGF1R	OMIM:270450
HP:0004322	Short stature	1278	COL1A2	ORPHA:1899
HP:0004322	Short stature	1277	COL1A1	ORPHA:1899
HP:0004322	Short stature	54808	DYM	ORPHA:239
HP:0004322	Short stature	4089	SMAD4	ORPHA:2588
HP:0004322	Short stature	6399	TRAPPC2	ORPHA:93284
HP:0004322	Short stature	6399	TRAPPC2	OMIM:313400
HP:0004322	Short stature	153642	ARSK	OMIM:619698
HP:0004322	Short stature	579	NKX3-2	OMIM:613330
HP:0004322	Short stature	2588	GALNS	OMIM:253000
HP:0004322	Short stature	168667	BMPER	OMIM:608022
HP:0004322	Short stature	1968	EIF2S3	OMIM:300148
HP:0004322	Short stature	55627	SMPD4	OMIM:618622
HP:0004322	Short stature	5324	PLAG1	OMIM:618907
HP:0004322	Short stature	23394	ADNP	ORPHA:404448
HP:0004322	Short stature	23394	ADNP	OMIM:615873
HP:0004322	Short stature	55703	POLR3B	OMIM:614381
HP:0004322	Short stature	55703	POLR3B	OMIM:607694
HP:0004322	Short stature	1139	CHRNA7	ORPHA:199318
HP:0004322	Short stature	8216	LZTR1	OMIM:616564
HP:0004322	Short stature	8216	LZTR1	ORPHA:648
HP:0004322	Short stature	8216	LZTR1	OMIM:605275
HP:0004322	Short stature	6228	RPS23	OMIM:617412
HP:0004322	Short stature	215	ABCD1	ORPHA:388
HP:0004322	Short stature	5979	RET	ORPHA:388
HP:0004322	Short stature	2668	GDNF	ORPHA:388
HP:0004322	Short stature	6608	SMO	ORPHA:388
HP:0004322	Short stature	6608	SMO	OMIM:241800
HP:0004322	Short stature	1889	ECE1	ORPHA:388
HP:0004322	Short stature	6720	SREBF1	ORPHA:388
HP:0004322	Short stature	1908	EDN3	ORPHA:388
HP:0004322	Short stature	223117	SEMA3D	ORPHA:388
HP:0004322	Short stature	538	ATP7A	ORPHA:388
HP:0004322	Short stature	538	ATP7A	OMIM:309400
HP:0004322	Short stature	1910	EDNRB	ORPHA:388
HP:0004322	Short stature	10512	SEMA3C	ORPHA:388
HP:0004322	Short stature	2064	ERBB2	ORPHA:388
HP:0004322	Short stature	2065	ERBB3	ORPHA:388
HP:0004322	Short stature	4902	NRTN	ORPHA:388
HP:0004322	Short stature	3481	IGF2	ORPHA:231140
HP:0004322	Short stature	3481	IGF2	ORPHA:231144
HP:0004322	Short stature	3481	IGF2	OMIM:616489
HP:0004322	Short stature	283120	H19	ORPHA:231140
HP:0004322	Short stature	283120	H19	ORPHA:231144
HP:0004322	Short stature	5932	RBBP8	OMIM:606744
HP:0004322	Short stature	5932	RBBP8	ORPHA:808
HP:0004322	Short stature	6729	SRP54	OMIM:618752
HP:0004322	Short stature	6729	SRP54	ORPHA:811
HP:0004322	Short stature	6729	SRP54	OMIM:260400
HP:0004322	Short stature	166378	AFG2A	OMIM:616577
HP:0004322	Short stature	1161	ERCC8	OMIM:216400
HP:0004322	Short stature	5832	ALDH18A1	OMIM:616586
HP:0004322	Short stature	5832	ALDH18A1	ORPHA:447760
HP:0004322	Short stature	5832	ALDH18A1	OMIM:601162
HP:0004322	Short stature	5832	ALDH18A1	OMIM:219150
HP:0004322	Short stature	54453	RIN2	OMIM:613075
HP:0004322	Short stature	6884	TAF13	OMIM:617432
HP:0004322	Short stature	6884	TAF13	ORPHA:2512
HP:0004322	Short stature	10111	RAD50	OMIM:613078
HP:0004322	Short stature	7436	VLDLR	OMIM:224050
HP:0004322	Short stature	7436	VLDLR	ORPHA:1766
HP:0004322	Short stature	51109	RDH11	OMIM:616108
HP:0004322	Short stature	51109	RDH11	ORPHA:436245
HP:0004322	Short stature	171023	ASXL1	ORPHA:97297
HP:0004322	Short stature	171023	ASXL1	OMIM:605039
HP:0004322	Short stature	23312	DMXL2	OMIM:616113
HP:0004322	Short stature	8036	SHOC2	ORPHA:2701
HP:0004322	Short stature	8036	SHOC2	OMIM:607721
HP:0004322	Short stature	5500	PPP1CB	ORPHA:2701
HP:0004322	Short stature	5500	PPP1CB	OMIM:617506
HP:0004322	Short stature	3340	NDST1	OMIM:616116
HP:0004322	Short stature	4247	MGAT2	OMIM:212066
HP:0004322	Short stature	54	ACP5	ORPHA:1855
HP:0004322	Short stature	54	ACP5	OMIM:607944
HP:0004322	Short stature	55131	RBM28	ORPHA:157954
HP:0004322	Short stature	55131	RBM28	OMIM:612079
HP:0004322	Short stature	79659	DYNC2H1	OMIM:613091
HP:0004322	Short stature	79659	DYNC2H1	ORPHA:474
HP:0004322	Short stature	11285	B4GALT7	OMIM:130070
HP:0004322	Short stature	11285	B4GALT7	ORPHA:75496
HP:0004322	Short stature	6772	STAT1	ORPHA:391487
HP:0004322	Short stature	6772	STAT1	OMIM:614162
HP:0004322	Short stature	10043	TOM1	ORPHA:391487
HP:0004322	Short stature	8493	PPM1D	OMIM:617450
HP:0004322	Short stature	5034	P4HB	OMIM:112240
HP:0004322	Short stature	5034	P4HB	ORPHA:2050
HP:0004322	Short stature	51633	OTUD6B	OMIM:617452
HP:0004322	Short stature	51633	OTUD6B	ORPHA:505237
HP:0004322	Short stature	9354	UBE4A	OMIM:619639
HP:0004322	Short stature	5604	MAP2K1	OMIM:615279
HP:0004322	Short stature	5604	MAP2K1	ORPHA:1340
HP:0004322	Short stature	5604	MAP2K1	OMIM:163950
HP:0004322	Short stature	2736	GLI2	OMIM:610829
HP:0004322	Short stature	2736	GLI2	ORPHA:220386
HP:0004322	Short stature	2736	GLI2	ORPHA:280200
HP:0004322	Short stature	2736	GLI2	ORPHA:93926
HP:0004322	Short stature	2736	GLI2	ORPHA:93924
HP:0004322	Short stature	2736	GLI2	ORPHA:93925
HP:0004322	Short stature	2736	GLI2	OMIM:615849
HP:0004322	Short stature	79718	TBL1XR1	OMIM:602342
HP:0004322	Short stature	5605	MAP2K2	OMIM:615280
HP:0004322	Short stature	5605	MAP2K2	ORPHA:638
HP:0004322	Short stature	5605	MAP2K2	ORPHA:1340
HP:0004322	Short stature	54828	BCAS3	OMIM:619641
HP:0004322	Short stature	113179	ADAT3	OMIM:615286
HP:0004322	Short stature	113179	ADAT3	ORPHA:363528
HP:0004322	Short stature	50485	SMARCAL1	ORPHA:1830
HP:0004322	Short stature	79971	WLS	OMIM:619648
HP:0004322	Short stature	3373	HYAL1	OMIM:601492
HP:0004322	Short stature	3373	HYAL1	ORPHA:67041
HP:0004322	Short stature	25836	NIPBL	OMIM:122470
HP:0004322	Short stature	25836	NIPBL	ORPHA:199
HP:0004322	Short stature	23499	MACF1	OMIM:618325
HP:0004322	Short stature	4087	SMAD2	OMIM:619657
HP:0004322	Short stature	2778	GNAS	ORPHA:79443
HP:0004322	Short stature	2778	GNAS	ORPHA:79444
HP:0004322	Short stature	2778	GNAS	ORPHA:79445
HP:0004322	Short stature	2778	GNAS	OMIM:612463
HP:0004322	Short stature	2778	GNAS	OMIM:612462
HP:0004322	Short stature	2778	GNAS	OMIM:103580
HP:0004322	Short stature	2778	GNAS	ORPHA:94089
HP:0004322	Short stature	5836	PYGL	ORPHA:369
HP:0004322	Short stature	79648	MCPH1	OMIM:251200
HP:0004322	Short stature	79648	MCPH1	ORPHA:2512
HP:0004322	Short stature	178	AGL	ORPHA:366
HP:0004322	Short stature	178	AGL	OMIM:232400
HP:0004322	Short stature	1523	CUX1	OMIM:618330
HP:0004322	Short stature	5626	PROP1	ORPHA:90695
HP:0004322	Short stature	5626	PROP1	OMIM:262600
HP:0004322	Short stature	6658	SOX3	ORPHA:90695
HP:0004322	Short stature	6658	SOX3	ORPHA:3157
HP:0004322	Short stature	6658	SOX3	ORPHA:67045
HP:0004322	Short stature	6658	SOX3	OMIM:300123
HP:0004322	Short stature	7227	TRPS1	ORPHA:77258
HP:0004322	Short stature	7227	TRPS1	OMIM:190350
HP:0004322	Short stature	7227	TRPS1	OMIM:190351
HP:0004322	Short stature	7227	TRPS1	ORPHA:502
HP:0004322	Short stature	435	ASL	ORPHA:23
HP:0004322	Short stature	64132	XYLT2	OMIM:605822
HP:0004322	Short stature	64132	XYLT2	ORPHA:85194
HP:0004322	Short stature	7291	TWIST1	ORPHA:794
HP:0004322	Short stature	7291	TWIST1	OMIM:101400
HP:0004322	Short stature	2263	FGFR2	ORPHA:794
HP:0004322	Short stature	2263	FGFR2	OMIM:101400
HP:0004322	Short stature	3479	IGF1	ORPHA:73272
HP:0004322	Short stature	3479	IGF1	OMIM:608747
HP:0004322	Short stature	57190	SELENON	ORPHA:324604
HP:0004322	Short stature	57190	SELENON	OMIM:602771
HP:0004322	Short stature	4625	MYH7	ORPHA:324604
HP:0004322	Short stature	4625	MYH7	OMIM:255160
HP:0004322	Short stature	7273	TTN	ORPHA:324604
HP:0004322	Short stature	10785	WDR4	OMIM:618346
HP:0004322	Short stature	10785	WDR4	OMIM:618347
HP:0004322	Short stature	10785	WDR4	ORPHA:2065
HP:0004322	Short stature	4598	MVK	ORPHA:29
HP:0004322	Short stature	4598	MVK	OMIM:610377
HP:0004322	Short stature	54517	PUS7	OMIM:618342
HP:0004322	Short stature	8573	CASK	OMIM:300749
HP:0004322	Short stature	89884	LHX4	OMIM:262700
HP:0004322	Short stature	89884	LHX4	ORPHA:95496
HP:0004322	Short stature	57122	NUP107	OMIM:618348
HP:0004322	Short stature	57122	NUP107	ORPHA:243
HP:0004322	Short stature	57122	NUP107	ORPHA:2065
HP:0004322	Short stature	7681	MKRN3	OMIM:176270
HP:0004322	Short stature	3653	IPW	OMIM:176270
HP:0004322	Short stature	54551	MAGEL2	OMIM:176270
HP:0004322	Short stature	54551	MAGEL2	ORPHA:398069
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177904
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177901
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177910
HP:0004322	Short stature	54551	MAGEL2	OMIM:615547
HP:0004322	Short stature	54551	MAGEL2	ORPHA:98754
HP:0004322	Short stature	791114	PWRN1	OMIM:176270
HP:0004322	Short stature	100033413	SNORD116-1	OMIM:176270
HP:0004322	Short stature	8924	HERC2	OMIM:176270
HP:0004322	Short stature	145624	PWAR1	OMIM:176270
HP:0004322	Short stature	23742	NPAP1	OMIM:176270
HP:0004322	Short stature	338433	SNORD115-1	OMIM:176270
HP:0004322	Short stature	27125	AFF4	ORPHA:444077
HP:0004322	Short stature	27125	AFF4	OMIM:616368
HP:0004322	Short stature	55630	SLC39A4	ORPHA:37
HP:0004322	Short stature	55630	SLC39A4	OMIM:201100
HP:0004322	Short stature	55315	SLC29A3	OMIM:602782
HP:0004322	Short stature	55315	SLC29A3	ORPHA:168569
HP:0004322	Short stature	55315	SLC29A3	ORPHA:1782
HP:0004322	Short stature	10733	PLK4	OMIM:616171
HP:0004322	Short stature	10733	PLK4	ORPHA:808
HP:0004322	Short stature	10733	PLK4	ORPHA:2518
HP:0004322	Short stature	4967	OGDH	ORPHA:31
HP:0004322	Short stature	11277	TREX1	OMIM:225750
HP:0004322	Short stature	11277	TREX1	ORPHA:51
HP:0004322	Short stature	1297	COL9A1	ORPHA:166002
HP:0004322	Short stature	1297	COL9A1	ORPHA:250984
HP:0004322	Short stature	1297	COL9A1	OMIM:614134
HP:0004322	Short stature	1298	COL9A2	ORPHA:166002
HP:0004322	Short stature	1298	COL9A2	OMIM:614284
HP:0004322	Short stature	1298	COL9A2	ORPHA:250984
HP:0004322	Short stature	1299	COL9A3	ORPHA:166002
HP:0004322	Short stature	1299	COL9A3	ORPHA:250984
HP:0004322	Short stature	1281	COL3A1	OMIM:130050
HP:0004322	Short stature	1281	COL3A1	ORPHA:286
HP:0004322	Short stature	1281	COL3A1	ORPHA:2500
HP:0004322	Short stature	427	ASAH1	ORPHA:333
HP:0004322	Short stature	55777	MBD5	OMIM:156200
HP:0004322	Short stature	55777	MBD5	ORPHA:228402
HP:0004322	Short stature	254394	MCM9	OMIM:616185
HP:0004322	Short stature	10588	MTHFS	OMIM:618367
HP:0004322	Short stature	22930	RAB3GAP1	OMIM:600118
HP:0004322	Short stature	22930	RAB3GAP1	OMIM:619420
HP:0004322	Short stature	22930	RAB3GAP1	ORPHA:2510
HP:0004322	Short stature	22930	RAB3GAP1	ORPHA:1387
HP:0004322	Short stature	3549	IHH	ORPHA:63446
HP:0004322	Short stature	3549	IHH	OMIM:112500
HP:0004322	Short stature	3549	IHH	ORPHA:93388
HP:0004322	Short stature	3549	IHH	OMIM:607778
HP:0004322	Short stature	2334	AFF2	OMIM:309548
HP:0004322	Short stature	2334	AFF2	ORPHA:100973
HP:0004322	Short stature	84068	SLC10A7	OMIM:618363
HP:0004322	Short stature	7468	NSD2	OMIM:619695
HP:0004322	Short stature	7468	NSD2	OMIM:194190
HP:0004322	Short stature	50945	TBX22	OMIM:302905
HP:0004322	Short stature	50945	TBX22	ORPHA:921
HP:0004322	Short stature	3054	HCFC1	OMIM:309541
HP:0004322	Short stature	201163	FLCN	OMIM:610883
HP:0004322	Short stature	2717	GLA	ORPHA:324
HP:0004322	Short stature	2131	EXT1	ORPHA:321
HP:0004322	Short stature	2131	EXT1	ORPHA:502
HP:0004322	Short stature	2131	EXT1	OMIM:133700
HP:0004322	Short stature	2132	EXT2	ORPHA:321
HP:0004322	Short stature	2132	EXT2	OMIM:133701
HP:0004322	Short stature	25778	DSTYK	ORPHA:101003
HP:0004322	Short stature	3291	HSD11B2	ORPHA:320
HP:0004322	Short stature	3291	HSD11B2	OMIM:218030
HP:0004322	Short stature	23111	SPART	ORPHA:101000
HP:0004322	Short stature	23111	SPART	OMIM:275900
HP:0004322	Short stature	5611	DNAJC3	OMIM:616192
HP:0004322	Short stature	5611	DNAJC3	ORPHA:445062
HP:0004322	Short stature	51729	WBP11	OMIM:619227
HP:0004322	Short stature	2697	GJA1	ORPHA:317
HP:0004322	Short stature	2697	GJA1	OMIM:257850
HP:0004322	Short stature	2707	GJB3	ORPHA:317
HP:0004322	Short stature	2531	KDSR	ORPHA:317
HP:0004322	Short stature	127534	GJB4	ORPHA:317
HP:0004322	Short stature	8883	NAE1	OMIM:620210
HP:0004322	Short stature	55186	SLC25A36	OMIM:620211
HP:0004322	Short stature	4763	NF1	ORPHA:97685
HP:0004322	Short stature	4763	NF1	OMIM:193520
HP:0004322	Short stature	4763	NF1	OMIM:601321
HP:0004322	Short stature	4763	NF1	ORPHA:638
HP:0004322	Short stature	4763	NF1	ORPHA:139474
HP:0004322	Short stature	4763	NF1	ORPHA:363700
HP:0004322	Short stature	4763	NF1	OMIM:162200
HP:0004322	Short stature	151516	ASPRV1	ORPHA:313
HP:0004322	Short stature	242	ALOX12B	ORPHA:313
HP:0004322	Short stature	242	ALOX12B	ORPHA:79394
HP:0004322	Short stature	126410	CYP4F22	ORPHA:313
HP:0004322	Short stature	6820	SULT2B1	ORPHA:313
HP:0004322	Short stature	26154	ABCA12	ORPHA:313
HP:0004322	Short stature	26154	ABCA12	ORPHA:79394
HP:0004322	Short stature	643418	LIPN	ORPHA:313
HP:0004322	Short stature	59344	ALOXE3	ORPHA:313
HP:0004322	Short stature	59344	ALOXE3	ORPHA:79394
HP:0004322	Short stature	348938	NIPAL4	ORPHA:313
HP:0004322	Short stature	348938	NIPAL4	ORPHA:79394
HP:0004322	Short stature	121214	SDR9C7	ORPHA:313
HP:0004322	Short stature	7051	TGM1	ORPHA:313
HP:0004322	Short stature	7051	TGM1	ORPHA:79394
HP:0004322	Short stature	2316	FLNA	ORPHA:75497
HP:0004322	Short stature	2316	FLNA	ORPHA:2301
HP:0004322	Short stature	2316	FLNA	ORPHA:2484
HP:0004322	Short stature	2316	FLNA	OMIM:304120
HP:0004322	Short stature	2316	FLNA	ORPHA:88630
HP:0004322	Short stature	2316	FLNA	OMIM:311300
HP:0004322	Short stature	9757	KMT2B	ORPHA:589618
HP:0004322	Short stature	9757	KMT2B	OMIM:617284
HP:0004322	Short stature	84265	POLR3GL	OMIM:619234
HP:0004322	Short stature	54809	SAMD9	OMIM:617053
HP:0004322	Short stature	134218	DNAJC21	OMIM:617052
HP:0004322	Short stature	134218	DNAJC21	ORPHA:811
HP:0004322	Short stature	134218	DNAJC21	OMIM:260400
HP:0004322	Short stature	29927	SEC61A1	OMIM:617056
HP:0004322	Short stature	92002	CCNQ	OMIM:300707
HP:0004322	Short stature	92002	CCNQ	ORPHA:140952
HP:0004322	Short stature	1041	CDSN	OMIM:270300
HP:0004322	Short stature	10283	CWC27	ORPHA:166035
HP:0004322	Short stature	10283	CWC27	OMIM:250410
HP:0004322	Short stature	8720	MBTPS1	OMIM:618392
HP:0004322	Short stature	57477	SHROOM4	ORPHA:85288
HP:0004322	Short stature	1289	COL5A1	OMIM:130000
HP:0004322	Short stature	23233	EXOC6B	OMIM:618395
HP:0004322	Short stature	23233	EXOC6B	ORPHA:93359
HP:0004322	Short stature	8450	CUL4B	ORPHA:85293
HP:0004322	Short stature	8450	CUL4B	OMIM:300354
HP:0004322	Short stature	2799	GNS	OMIM:252940
HP:0004322	Short stature	50964	SOST	OMIM:122860
HP:0004322	Short stature	50964	SOST	ORPHA:1513
HP:0004322	Short stature	7169	TPM2	OMIM:108120
HP:0004322	Short stature	7169	TPM2	ORPHA:1147
HP:0004322	Short stature	55670	PEX26	ORPHA:772
HP:0004322	Short stature	55670	PEX26	ORPHA:44
HP:0004322	Short stature	55670	PEX26	ORPHA:912
HP:0004322	Short stature	5824	PEX19	ORPHA:772
HP:0004322	Short stature	5824	PEX19	ORPHA:44
HP:0004322	Short stature	5824	PEX19	OMIM:614886
HP:0004322	Short stature	5824	PEX19	ORPHA:912
HP:0004322	Short stature	5828	PEX2	ORPHA:772
HP:0004322	Short stature	5828	PEX2	ORPHA:44
HP:0004322	Short stature	5828	PEX2	ORPHA:912
HP:0004322	Short stature	8504	PEX3	ORPHA:772
HP:0004322	Short stature	8504	PEX3	ORPHA:44
HP:0004322	Short stature	8504	PEX3	ORPHA:912
HP:0004322	Short stature	9409	PEX16	ORPHA:772
HP:0004322	Short stature	9409	PEX16	ORPHA:44
HP:0004322	Short stature	9409	PEX16	ORPHA:912
HP:0004322	Short stature	5190	PEX6	ORPHA:772
HP:0004322	Short stature	5190	PEX6	ORPHA:3220
HP:0004322	Short stature	5190	PEX6	ORPHA:44
HP:0004322	Short stature	5190	PEX6	ORPHA:912
HP:0004322	Short stature	8799	PEX11B	ORPHA:772
HP:0004322	Short stature	8799	PEX11B	ORPHA:44
HP:0004322	Short stature	8799	PEX11B	ORPHA:912
HP:0004322	Short stature	5830	PEX5	ORPHA:772
HP:0004322	Short stature	5830	PEX5	ORPHA:44
HP:0004322	Short stature	5830	PEX5	OMIM:616716
HP:0004322	Short stature	5830	PEX5	ORPHA:912
HP:0004322	Short stature	5189	PEX1	ORPHA:772
HP:0004322	Short stature	5189	PEX1	ORPHA:3220
HP:0004322	Short stature	5189	PEX1	ORPHA:44
HP:0004322	Short stature	5189	PEX1	ORPHA:912
HP:0004322	Short stature	5193	PEX12	ORPHA:772
HP:0004322	Short stature	5193	PEX12	ORPHA:44
HP:0004322	Short stature	5193	PEX12	ORPHA:912
HP:0004322	Short stature	5194	PEX13	ORPHA:772
HP:0004322	Short stature	5194	PEX13	ORPHA:44
HP:0004322	Short stature	5194	PEX13	ORPHA:912
HP:0004322	Short stature	5195	PEX14	ORPHA:772
HP:0004322	Short stature	5195	PEX14	ORPHA:44
HP:0004322	Short stature	5195	PEX14	ORPHA:912
HP:0004322	Short stature	5192	PEX10	ORPHA:772
HP:0004322	Short stature	5192	PEX10	ORPHA:44
HP:0004322	Short stature	5192	PEX10	ORPHA:912
HP:0004322	Short stature	10084	PQBP1	OMIM:309500
HP:0004322	Short stature	10084	PQBP1	ORPHA:93950
HP:0004322	Short stature	10084	PQBP1	ORPHA:93945
HP:0004322	Short stature	10084	PQBP1	ORPHA:93946
HP:0004322	Short stature	10084	PQBP1	ORPHA:93947
HP:0004322	Short stature	8242	KDM5C	ORPHA:85279
HP:0004322	Short stature	8242	KDM5C	OMIM:300534
HP:0004322	Short stature	5339	PLEC	OMIM:226670
HP:0004322	Short stature	89970	RSPRY1	ORPHA:457395
HP:0004322	Short stature	89970	RSPRY1	OMIM:616723
HP:0004322	Short stature	51594	NBAS	OMIM:614800
HP:0004322	Short stature	54187	NANS	OMIM:610442
HP:0004322	Short stature	84464	SLX4	OMIM:613951
HP:0004322	Short stature	84464	SLX4	ORPHA:84
HP:0004322	Short stature	284058	KANSL1	OMIM:610443
HP:0004322	Short stature	3643	INSR	ORPHA:769
HP:0004322	Short stature	3643	INSR	OMIM:262190
HP:0004322	Short stature	64802	NMNAT1	OMIM:619260
HP:0004322	Short stature	51626	DYNC2LI1	OMIM:617088
HP:0004322	Short stature	51626	DYNC2LI1	ORPHA:474
HP:0004322	Short stature	55181	SMG8	OMIM:619268
HP:0004322	Short stature	2693	GHSR	ORPHA:314811
HP:0004322	Short stature	2693	GHSR	OMIM:615925
HP:0004322	Short stature	27445	PCLO	OMIM:608027
HP:0004322	Short stature	5696	PSMB8	OMIM:256040
HP:0004322	Short stature	26146	TRAF3IP1	ORPHA:3156
HP:0004322	Short stature	9657	IQCB1	ORPHA:3156
HP:0004322	Short stature	10806	SDCCAG8	ORPHA:3156
HP:0004322	Short stature	10806	SDCCAG8	OMIM:615993
HP:0004322	Short stature	10806	SDCCAG8	ORPHA:110
HP:0004322	Short stature	27130	INVS	ORPHA:3156
HP:0004322	Short stature	80184	CEP290	ORPHA:3156
HP:0004322	Short stature	80184	CEP290	ORPHA:110
HP:0004322	Short stature	4867	NPHP1	ORPHA:3156
HP:0004322	Short stature	4867	NPHP1	ORPHA:110
HP:0004322	Short stature	261734	NPHP4	ORPHA:3156
HP:0004322	Short stature	27031	NPHP3	ORPHA:3156
HP:0004322	Short stature	22897	CEP164	ORPHA:3156
HP:0004322	Short stature	128674	PROKR2	ORPHA:3157
HP:0004322	Short stature	128674	PROKR2	ORPHA:95496
HP:0004322	Short stature	6657	SOX2	ORPHA:3157
HP:0004322	Short stature	6657	SOX2	OMIM:206900
HP:0004322	Short stature	9915	ARNT2	ORPHA:3157
HP:0004322	Short stature	9915	ARNT2	OMIM:615926
HP:0004322	Short stature	8820	HESX1	ORPHA:3157
HP:0004322	Short stature	8820	HESX1	ORPHA:95496
HP:0004322	Short stature	8820	HESX1	OMIM:182230
HP:0004322	Short stature	5015	OTX2	ORPHA:3157
HP:0004322	Short stature	5015	OTX2	OMIM:610125
HP:0004322	Short stature	5015	OTX2	OMIM:613986
HP:0004322	Short stature	4053	LTBP2	OMIM:614819
HP:0004322	Short stature	4053	LTBP2	ORPHA:3449
HP:0004322	Short stature	374654	KIF7	ORPHA:166024
HP:0004322	Short stature	374654	KIF7	ORPHA:2754
HP:0004322	Short stature	128	ADH5	OMIM:619151
HP:0004322	Short stature	6535	SLC6A8	OMIM:300352
HP:0004322	Short stature	6535	SLC6A8	ORPHA:52503
HP:0004322	Short stature	5885	RAD21	OMIM:614701
HP:0004322	Short stature	5885	RAD21	ORPHA:199
HP:0004322	Short stature	857	CAV1	OMIM:612526
HP:0004322	Short stature	6165	RPL35A	OMIM:612528
HP:0004322	Short stature	6165	RPL35A	ORPHA:124
HP:0004322	Short stature	6218	RPS17	OMIM:612527
HP:0004322	Short stature	6218	RPS17	ORPHA:124
HP:0004322	Short stature	10093	ARPC4	OMIM:620141
HP:0004322	Short stature	9496	TBX4	ORPHA:238578
HP:0004322	Short stature	9496	TBX4	ORPHA:261279
HP:0004322	Short stature	9496	TBX4	OMIM:147891
HP:0004322	Short stature	613	BCR	ORPHA:261330
HP:0004322	Short stature	1399	CRKL	ORPHA:261330
HP:0004322	Short stature	5594	MAPK1	ORPHA:261330
HP:0004322	Short stature	89910	UBE3B	OMIM:244450
HP:0004322	Short stature	841	CASP8	OMIM:607271
HP:0004322	Short stature	55788	LMBRD1	OMIM:277380
HP:0004322	Short stature	224	ALDH3A2	ORPHA:816
HP:0004322	Short stature	224	ALDH3A2	OMIM:270200
HP:0004322	Short stature	2314	FLII	ORPHA:819
HP:0004322	Short stature	23096	IQSEC2	ORPHA:819
HP:0004322	Short stature	10743	RAI1	ORPHA:819
HP:0004322	Short stature	10743	RAI1	ORPHA:1713
HP:0004322	Short stature	10743	RAI1	OMIM:182290
HP:0004322	Short stature	10522	DEAF1	ORPHA:819
HP:0004322	Short stature	4758	NEU1	ORPHA:812
HP:0004322	Short stature	4758	NEU1	OMIM:256550
HP:0004322	Short stature	79631	EFL1	ORPHA:811
HP:0004322	Short stature	79631	EFL1	OMIM:617941
HP:0004322	Short stature	51119	SBDS	ORPHA:811
HP:0004322	Short stature	51119	SBDS	OMIM:260400
HP:0004322	Short stature	56992	KIF15	ORPHA:261323
HP:0004322	Short stature	4001	LMNB1	OMIM:619179
HP:0004322	Short stature	4001	LMNB1	ORPHA:2514
HP:0004322	Short stature	1801	DPH1	OMIM:616901
HP:0004322	Short stature	1801	DPH1	ORPHA:459061
HP:0004322	Short stature	412	STS	ORPHA:281090
HP:0004322	Short stature	55858	TMEM165	OMIM:614727
HP:0004322	Short stature	80254	CEP63	OMIM:614728
HP:0004322	Short stature	80254	CEP63	ORPHA:2512
HP:0004322	Short stature	672	BRCA1	ORPHA:84
HP:0004322	Short stature	672	BRCA1	OMIM:617883
HP:0004322	Short stature	10459	MAD2L2	ORPHA:84
HP:0004322	Short stature	10459	MAD2L2	OMIM:617243
HP:0004322	Short stature	7516	XRCC2	ORPHA:84
HP:0004322	Short stature	29089	UBE2T	ORPHA:84
HP:0004322	Short stature	29089	UBE2T	OMIM:616435
HP:0004322	Short stature	675	BRCA2	ORPHA:84
HP:0004322	Short stature	675	BRCA2	OMIM:605724
HP:0004322	Short stature	55120	FANCL	ORPHA:84
HP:0004322	Short stature	2177	FANCD2	ORPHA:84
HP:0004322	Short stature	2177	FANCD2	OMIM:227646
HP:0004322	Short stature	2175	FANCA	ORPHA:84
HP:0004322	Short stature	2175	FANCA	OMIM:227650
HP:0004322	Short stature	2187	FANCB	ORPHA:84
HP:0004322	Short stature	2176	FANCC	ORPHA:84
HP:0004322	Short stature	2176	FANCC	OMIM:227645
HP:0004322	Short stature	2178	FANCE	ORPHA:84
HP:0004322	Short stature	2178	FANCE	OMIM:600901
HP:0004322	Short stature	2188	FANCF	ORPHA:84
HP:0004322	Short stature	2188	FANCF	OMIM:603467
HP:0004322	Short stature	2189	FANCG	ORPHA:84
HP:0004322	Short stature	5888	RAD51	ORPHA:84
HP:0004322	Short stature	5889	RAD51C	ORPHA:84
HP:0004322	Short stature	5889	RAD51C	OMIM:613390
HP:0004322	Short stature	55159	RFWD3	ORPHA:84
HP:0004322	Short stature	83990	BRIP1	ORPHA:84
HP:0004322	Short stature	57697	FANCM	ORPHA:84
HP:0004322	Short stature	79728	PALB2	ORPHA:84
HP:0004322	Short stature	55215	FANCI	ORPHA:84
HP:0004322	Short stature	55215	FANCI	OMIM:609053
HP:0004322	Short stature	546	ATRX	ORPHA:847
HP:0004322	Short stature	546	ATRX	OMIM:309580
HP:0004322	Short stature	23116	TOGARAM1	OMIM:619185
HP:0004322	Short stature	9184	BUB3	ORPHA:1052
HP:0004322	Short stature	699	BUB1	ORPHA:1052
HP:0004322	Short stature	9319	TRIP13	ORPHA:1052
HP:0004322	Short stature	9319	TRIP13	OMIM:617598
HP:0004322	Short stature	701	BUB1B	ORPHA:1052
HP:0004322	Short stature	701	BUB1B	OMIM:257300
HP:0004322	Short stature	55148	UBR7	OMIM:619189
HP:0004322	Short stature	23545	ATP6V0A2	OMIM:278250
HP:0004322	Short stature	23545	ATP6V0A2	ORPHA:2834
HP:0004322	Short stature	23545	ATP6V0A2	ORPHA:357074
HP:0004322	Short stature	25942	SIN3A	OMIM:613406
HP:0004322	Short stature	25942	SIN3A	ORPHA:94065
HP:0004322	Short stature	53834	FGFRL1	OMIM:194190
HP:0004322	Short stature	1487	CTBP1	OMIM:194190
HP:0004322	Short stature	3954	LETM1	OMIM:194190
HP:0004322	Short stature	10815	CPLX1	OMIM:194190
HP:0004322	Short stature	10801	SEPTIN9	OMIM:162100
HP:0004322	Short stature	10801	SEPTIN9	ORPHA:2901
HP:0004322	Short stature	7840	ALMS1	ORPHA:64
HP:0004322	Short stature	7840	ALMS1	OMIM:203800
HP:0004322	Short stature	7025	NR2F1	ORPHA:401777
HP:0004322	Short stature	4318	MMP9	ORPHA:1040
HP:0004322	Short stature	114548	NLRP3	OMIM:191900
HP:0004322	Short stature	114548	NLRP3	ORPHA:575
HP:0004322	Short stature	6201	RPS7	OMIM:612563
HP:0004322	Short stature	6201	RPS7	ORPHA:124
HP:0004322	Short stature	55717	WDR11	ORPHA:95496
HP:0004322	Short stature	6091	ROBO1	ORPHA:95496
HP:0004322	Short stature	50937	CDON	ORPHA:95496
HP:0004322	Short stature	50937	CDON	ORPHA:220386
HP:0004322	Short stature	50937	CDON	ORPHA:280200
HP:0004322	Short stature	50937	CDON	ORPHA:93926
HP:0004322	Short stature	50937	CDON	ORPHA:93924
HP:0004322	Short stature	50937	CDON	ORPHA:93925
HP:0004322	Short stature	23432	GPR161	ORPHA:95496
HP:0004322	Short stature	11128	POLR3A	OMIM:264090
HP:0004322	Short stature	11128	POLR3A	OMIM:607694
HP:0004322	Short stature	11128	POLR3A	ORPHA:3455
HP:0004322	Short stature	11128	POLR3A	ORPHA:447896
HP:0004322	Short stature	8085	KMT2D	OMIM:620186
HP:0004322	Short stature	8085	KMT2D	ORPHA:2322
HP:0004322	Short stature	8085	KMT2D	OMIM:147920
HP:0004322	Short stature	10907	TXNL4A	OMIM:608572
HP:0004322	Short stature	10907	TXNL4A	ORPHA:1200
HP:0004322	Short stature	55343	SLC35C1	OMIM:266265
HP:0004322	Short stature	55343	SLC35C1	ORPHA:99843
HP:0004322	Short stature	3251	HPRT1	OMIM:300322
HP:0004322	Short stature	4256	MGP	ORPHA:85202
HP:0004322	Short stature	23261	CAMTA1	OMIM:614756
HP:0004322	Short stature	6605	SMARCE1	OMIM:616938
HP:0004322	Short stature	388015	RTL1	ORPHA:96334
HP:0004322	Short stature	388015	RTL1	ORPHA:96184
HP:0004322	Short stature	8788	DLK1	ORPHA:96334
HP:0004322	Short stature	8788	DLK1	ORPHA:96184
HP:0004322	Short stature	55384	MEG3	ORPHA:96334
HP:0004322	Short stature	55384	MEG3	ORPHA:96184
HP:0004322	Short stature	1962	EHHADH	OMIM:615605
HP:0004322	Short stature	695	BTK	ORPHA:47
HP:0004322	Short stature	695	BTK	OMIM:307200
HP:0004322	Short stature	415	ARSL	OMIM:302950
HP:0004322	Short stature	3977	LIFR	ORPHA:3206
HP:0004322	Short stature	3977	LIFR	OMIM:601559
HP:0004322	Short stature	10735	STAG2	ORPHA:521258
HP:0004322	Short stature	10735	STAG2	ORPHA:220386
HP:0004322	Short stature	10735	STAG2	ORPHA:93925
HP:0004322	Short stature	10735	STAG2	OMIM:301022
HP:0004322	Short stature	6611	SMS	OMIM:309583
HP:0004322	Short stature	6611	SMS	ORPHA:3063
HP:0004322	Short stature	545	ATR	ORPHA:808
HP:0004322	Short stature	1062	CENPE	ORPHA:808
HP:0004322	Short stature	1062	CENPE	OMIM:616051
HP:0004322	Short stature	5116	PCNT	ORPHA:808
HP:0004322	Short stature	79902	NUP85	ORPHA:808
HP:0004322	Short stature	79902	NUP85	OMIM:618176
HP:0004322	Short stature	84126	ATRIP	ORPHA:808
HP:0004322	Short stature	10293	TRAIP	ORPHA:808
HP:0004322	Short stature	10293	TRAIP	OMIM:616777
HP:0004322	Short stature	22995	CEP152	ORPHA:808
HP:0004322	Short stature	22995	CEP152	OMIM:613823
HP:0004322	Short stature	22995	CEP152	ORPHA:2512
HP:0004322	Short stature	2961	GTF2E2	OMIM:616943
HP:0004322	Short stature	84876	ORAI1	ORPHA:3204
HP:0004322	Short stature	6786	STIM1	ORPHA:3204
HP:0004322	Short stature	6786	STIM1	OMIM:185070
HP:0004322	Short stature	6567	SLC16A2	ORPHA:59
HP:0004322	Short stature	1186	CLCN7	ORPHA:53
HP:0004322	Short stature	1186	CLCN7	OMIM:618541
HP:0004322	Short stature	57724	EPG5	ORPHA:1493
HP:0004322	Short stature	4204	MECP2	OMIM:312750
HP:0004322	Short stature	4204	MECP2	ORPHA:1762
HP:0004322	Short stature	4204	MECP2	ORPHA:3077
HP:0004322	Short stature	196528	ARID2	OMIM:617808
HP:0004322	Short stature	10535	RNASEH2A	ORPHA:51
HP:0004322	Short stature	84153	RNASEH2C	ORPHA:51
HP:0004322	Short stature	25939	SAMHD1	ORPHA:51
HP:0004322	Short stature	79621	RNASEH2B	ORPHA:51
HP:0004322	Short stature	103	ADAR	ORPHA:51
HP:0004322	Short stature	100147744	RNU7-1	ORPHA:51
HP:0004322	Short stature	134353	LSM11	ORPHA:51
HP:0004322	Short stature	64135	IFIH1	ORPHA:51
HP:0004322	Short stature	64135	IFIH1	OMIM:182250
HP:0004322	Short stature	10075	HUWE1	OMIM:309590
HP:0004322	Short stature	22856	CHSY1	ORPHA:363417
HP:0004322	Short stature	26160	IFT172	OMIM:615630
HP:0004322	Short stature	26160	IFT172	ORPHA:110
HP:0004322	Short stature	26160	IFT172	ORPHA:474
HP:0004322	Short stature	84529	CDIN1	OMIM:615631
HP:0004322	Short stature	2733	GLE1	ORPHA:1486
HP:0004322	Short stature	29123	ANKRD11	ORPHA:2332
HP:0004322	Short stature	29123	ANKRD11	OMIM:148050
HP:0004322	Short stature	9759	HDAC4	ORPHA:1001
HP:0004322	Short stature	9759	HDAC4	OMIM:600430
HP:0004322	Short stature	79650	USB1	OMIM:604173
HP:0004322	Short stature	79650	USB1	ORPHA:1775
HP:0004322	Short stature	4010	LMX1B	OMIM:161200
HP:0004322	Short stature	4010	LMX1B	ORPHA:2613
HP:0004322	Short stature	9150	CTDP1	OMIM:604168
HP:0004322	Short stature	9150	CTDP1	ORPHA:48431
HP:0004322	Short stature	473	RERE	OMIM:616975
HP:0004322	Short stature	473	RERE	ORPHA:1606
HP:0004322	Short stature	6905	TBCE	ORPHA:2323
HP:0004322	Short stature	7403	KDM6A	ORPHA:2322
HP:0004322	Short stature	7403	KDM6A	OMIM:300867
HP:0004322	Short stature	7403	KDM6A	OMIM:147920
HP:0004322	Short stature	7200	TRH	OMIM:275120
HP:0004322	Short stature	54820	NDE1	OMIM:605013
HP:0004322	Short stature	54820	NDE1	OMIM:614019
HP:0004322	Short stature	9837	GINS1	OMIM:617827
HP:0004322	Short stature	4000	LMNA	ORPHA:90153
HP:0004322	Short stature	4000	LMNA	ORPHA:79474
HP:0004322	Short stature	10651	MTX2	ORPHA:90153
HP:0004322	Short stature	10651	MTX2	OMIM:619127
HP:0004322	Short stature	10269	ZMPSTE24	ORPHA:90154
HP:0004322	Short stature	5251	PHEX	OMIM:307800
HP:0004322	Short stature	6638	SNRPN	ORPHA:177904
HP:0004322	Short stature	6638	SNRPN	ORPHA:177901
HP:0004322	Short stature	6638	SNRPN	ORPHA:177910
HP:0004322	Short stature	6638	SNRPN	ORPHA:177907
HP:0004322	Short stature	6638	SNRPN	ORPHA:98754
HP:0004322	Short stature	4692	NDN	ORPHA:177904
HP:0004322	Short stature	4692	NDN	ORPHA:177901
HP:0004322	Short stature	4692	NDN	ORPHA:177910
HP:0004322	Short stature	4692	NDN	ORPHA:98754
HP:0004322	Short stature	4948	OCA2	ORPHA:177904
HP:0004322	Short stature	4948	OCA2	ORPHA:177901
HP:0004322	Short stature	4948	OCA2	ORPHA:98754
HP:0004322	Short stature	1588	CYP19A1	OMIM:139300
HP:0004322	Short stature	55906	ZC4H2	OMIM:314580
HP:0004322	Short stature	55906	ZC4H2	OMIM:301041
HP:0004322	Short stature	10560	SLC19A2	OMIM:249270
HP:0004322	Short stature	10560	SLC19A2	ORPHA:49827
HP:0004322	Short stature	2068	ERCC2	ORPHA:1466
HP:0004322	Short stature	2068	ERCC2	ORPHA:220295
HP:0004322	Short stature	2068	ERCC2	OMIM:601675
HP:0004322	Short stature	2068	ERCC2	ORPHA:910
HP:0004322	Short stature	2067	ERCC1	ORPHA:1466
HP:0004322	Short stature	2067	ERCC1	OMIM:610758
HP:0004322	Short stature	2073	ERCC5	ORPHA:1466
HP:0004322	Short stature	2073	ERCC5	ORPHA:220295
HP:0004322	Short stature	2073	ERCC5	ORPHA:910
HP:0004322	Short stature	4358	MPV17	OMIM:256810
HP:0004322	Short stature	134701	RIPPLY2	ORPHA:2311
HP:0004322	Short stature	3955	LFNG	ORPHA:2311
HP:0004322	Short stature	3955	LFNG	OMIM:609813
HP:0004322	Short stature	84667	HES7	ORPHA:2311
HP:0004322	Short stature	84667	HES7	OMIM:613686
HP:0004322	Short stature	79947	DHDDS	OMIM:617836
HP:0004322	Short stature	79947	DHDDS	ORPHA:442835
HP:0004322	Short stature	2138	EYA1	ORPHA:2792
HP:0004322	Short stature	5075	PAX1	ORPHA:2792
HP:0004322	Short stature	6678	SPARC	OMIM:616507
HP:0004322	Short stature	10804	GJB6	OMIM:129500
HP:0004322	Short stature	197131	UBR1	ORPHA:2315
HP:0004322	Short stature	197131	UBR1	OMIM:243800
HP:0004322	Short stature	4982	TNFRSF11B	OMIM:239000
HP:0004322	Short stature	4982	TNFRSF11B	ORPHA:2801
HP:0004322	Short stature	84188	FAR1	ORPHA:438178
HP:0004322	Short stature	4041	LRP5	ORPHA:2788
HP:0004322	Short stature	4041	LRP5	OMIM:259770
HP:0004322	Short stature	128637	TBC1D20	OMIM:615663
HP:0004322	Short stature	128637	TBC1D20	ORPHA:2510
HP:0004322	Short stature	79827	CLMP	ORPHA:2301
HP:0004322	Short stature	26227	PHGDH	ORPHA:79351
HP:0004322	Short stature	2313	FLI1	ORPHA:2308
HP:0004322	Short stature	760	CA2	ORPHA:2785
HP:0004322	Short stature	760	CA2	OMIM:259730
HP:0004322	Short stature	9361	LONP1	ORPHA:1458
HP:0004322	Short stature	9361	LONP1	OMIM:600373
HP:0004322	Short stature	64840	PORCN	OMIM:305600
HP:0004322	Short stature	131669	UROC1	OMIM:276880
HP:0004322	Short stature	5352	PLOD2	ORPHA:2771
HP:0004322	Short stature	5352	PLOD2	OMIM:609220
HP:0004322	Short stature	60681	FKBP10	ORPHA:2771
HP:0004322	Short stature	60681	FKBP10	OMIM:259450
HP:0004322	Short stature	60681	FKBP10	OMIM:610968
HP:0004322	Short stature	8022	LHX3	OMIM:221750
HP:0004322	Short stature	8022	LHX3	ORPHA:231720
HP:0004322	Short stature	284252	KCTD1	OMIM:181270
HP:0004322	Short stature	122553	TRAPPC6B	OMIM:617862
HP:0004322	Short stature	2893	GRIA4	OMIM:617864
HP:0004322	Short stature	271	AMPD2	OMIM:615686
HP:0004322	Short stature	271	AMPD2	ORPHA:401805
HP:0004322	Short stature	4094	MAF	OMIM:601088
HP:0004322	Short stature	4094	MAF	ORPHA:1272
HP:0004322	Short stature	7518	XRCC4	OMIM:616541
HP:0004322	Short stature	650	BMP2	OMIM:617877
HP:0004322	Short stature	650	BMP2	ORPHA:261295
HP:0004322	Short stature	51099	ABHD5	ORPHA:98907
HP:0004322	Short stature	28514	DLL1	ORPHA:220386
HP:0004322	Short stature	28514	DLL1	ORPHA:280200
HP:0004322	Short stature	28514	DLL1	ORPHA:93926
HP:0004322	Short stature	28514	DLL1	ORPHA:93924
HP:0004322	Short stature	28514	DLL1	ORPHA:93925
HP:0004322	Short stature	2253	FGF8	ORPHA:220386
HP:0004322	Short stature	2253	FGF8	ORPHA:280200
HP:0004322	Short stature	2253	FGF8	ORPHA:93926
HP:0004322	Short stature	2253	FGF8	ORPHA:93924
HP:0004322	Short stature	2253	FGF8	ORPHA:93925
HP:0004322	Short stature	8243	SMC1A	ORPHA:220386
HP:0004322	Short stature	8243	SMC1A	OMIM:300590
HP:0004322	Short stature	8243	SMC1A	ORPHA:199
HP:0004322	Short stature	6496	SIX3	ORPHA:220386
HP:0004322	Short stature	6496	SIX3	ORPHA:280200
HP:0004322	Short stature	6496	SIX3	ORPHA:93926
HP:0004322	Short stature	6496	SIX3	ORPHA:93924
HP:0004322	Short stature	6496	SIX3	ORPHA:93925
HP:0004322	Short stature	7050	TGIF1	ORPHA:220386
HP:0004322	Short stature	7050	TGIF1	ORPHA:280200
HP:0004322	Short stature	7050	TGIF1	ORPHA:93926
HP:0004322	Short stature	7050	TGIF1	ORPHA:93924
HP:0004322	Short stature	7050	TGIF1	ORPHA:93925
HP:0004322	Short stature	4838	NODAL	ORPHA:220386
HP:0004322	Short stature	4838	NODAL	ORPHA:280200
HP:0004322	Short stature	4838	NODAL	ORPHA:93926
HP:0004322	Short stature	4838	NODAL	ORPHA:93924
HP:0004322	Short stature	4838	NODAL	ORPHA:93925
HP:0004322	Short stature	6469	SHH	ORPHA:220386
HP:0004322	Short stature	6469	SHH	ORPHA:280200
HP:0004322	Short stature	6469	SHH	OMIM:147250
HP:0004322	Short stature	6469	SHH	ORPHA:93926
HP:0004322	Short stature	6469	SHH	ORPHA:93924
HP:0004322	Short stature	6469	SHH	ORPHA:93925
HP:0004322	Short stature	6469	SHH	ORPHA:988
HP:0004322	Short stature	7546	ZIC2	ORPHA:220386
HP:0004322	Short stature	7546	ZIC2	ORPHA:280200
HP:0004322	Short stature	7546	ZIC2	ORPHA:93926
HP:0004322	Short stature	7546	ZIC2	ORPHA:93924
HP:0004322	Short stature	7546	ZIC2	ORPHA:93925
HP:0004322	Short stature	6491	STIL	ORPHA:220386
HP:0004322	Short stature	6491	STIL	ORPHA:93926
HP:0004322	Short stature	6491	STIL	ORPHA:93924
HP:0004322	Short stature	6491	STIL	ORPHA:93925
HP:0004322	Short stature	6491	STIL	ORPHA:2512
HP:0004322	Short stature	2619	GAS1	ORPHA:220386
HP:0004322	Short stature	2619	GAS1	ORPHA:280200
HP:0004322	Short stature	2619	GAS1	ORPHA:93926
HP:0004322	Short stature	2619	GAS1	ORPHA:93924
HP:0004322	Short stature	2619	GAS1	ORPHA:93925
HP:0004322	Short stature	84976	DISP1	ORPHA:220386
HP:0004322	Short stature	84976	DISP1	ORPHA:280200
HP:0004322	Short stature	84976	DISP1	ORPHA:93926
HP:0004322	Short stature	84976	DISP1	ORPHA:93924
HP:0004322	Short stature	84976	DISP1	ORPHA:93925
HP:0004322	Short stature	8928	FOXH1	ORPHA:220386
HP:0004322	Short stature	8928	FOXH1	ORPHA:280200
HP:0004322	Short stature	8928	FOXH1	ORPHA:93926
HP:0004322	Short stature	8928	FOXH1	ORPHA:93924
HP:0004322	Short stature	8928	FOXH1	ORPHA:93925
HP:0004322	Short stature	5727	PTCH1	ORPHA:220386
HP:0004322	Short stature	5727	PTCH1	ORPHA:280200
HP:0004322	Short stature	5727	PTCH1	ORPHA:93926
HP:0004322	Short stature	5727	PTCH1	ORPHA:93924
HP:0004322	Short stature	5727	PTCH1	ORPHA:93925
HP:0004322	Short stature	57104	PNPLA2	ORPHA:98908
HP:0004322	Short stature	57104	PNPLA2	OMIM:610717
HP:0004322	Short stature	2806	GOT2	OMIM:618721
HP:0004322	Short stature	84700	MYO18B	OMIM:616549
HP:0004322	Short stature	5449	POU1F1	OMIM:613038
HP:0004322	Short stature	4750	NEK1	ORPHA:2751
HP:0004322	Short stature	8086	AAAS	OMIM:231550
HP:0004322	Short stature	8086	AAAS	ORPHA:869
HP:0004322	Short stature	10210	TOPORS	ORPHA:2754
HP:0004322	Short stature	9851	KIAA0753	ORPHA:2754
HP:0004322	Short stature	9851	KIAA0753	OMIM:619476
HP:0004322	Short stature	5147	PDE6D	ORPHA:2754
HP:0004322	Short stature	65250	CPLANE1	ORPHA:2754
HP:0004322	Short stature	65250	CPLANE1	OMIM:277170
HP:0004322	Short stature	51259	TMEM216	ORPHA:2754
HP:0004322	Short stature	8481	OFD1	ORPHA:2754
HP:0004322	Short stature	8481	OFD1	OMIM:311200
HP:0004322	Short stature	317662	FAM149B1	ORPHA:2754
HP:0004322	Short stature	6609	SMPD1	OMIM:607616
HP:0004322	Short stature	6609	SMPD1	OMIM:257200
HP:0004322	Short stature	6609	SMPD1	ORPHA:77293
HP:0004322	Short stature	83452	RAB33B	OMIM:615222
HP:0004322	Short stature	7471	WNT1	OMIM:615220
HP:0004322	Short stature	9241	NOG	ORPHA:1412
HP:0004322	Short stature	80169	CTC1	OMIM:612199
HP:0004322	Short stature	80169	CTC1	ORPHA:1775
HP:0004322	Short stature	8626	TP63	ORPHA:1896
HP:0004322	Short stature	8626	TP63	OMIM:129400
HP:0004322	Short stature	10736	SIX2	ORPHA:488437
HP:0004322	Short stature	4281	MID1	ORPHA:2745
HP:0004322	Short stature	529	ATP6V1E1	OMIM:617402
HP:0004322	Short stature	529	ATP6V1E1	ORPHA:357074
HP:0004322	Short stature	6655	SOS2	OMIM:616559
HP:0004322	Short stature	6655	SOS2	ORPHA:648
HP:0004322	Short stature	204219	CERS3	ORPHA:79394
HP:0004322	Short stature	285848	PNPLA1	ORPHA:79394
HP:0004322	Short stature	255758	DYNLT2B	OMIM:617405
HP:0004322	Short stature	246329	STAC3	OMIM:255995
HP:0004322	Short stature	246329	STAC3	ORPHA:168572
HP:0004322	Short stature	3762	KCNJ5	ORPHA:37553
HP:0004322	Short stature	3759	KCNJ2	ORPHA:37553
HP:0004322	Short stature	3759	KCNJ2	OMIM:170390
HP:0004322	Short stature	1497	CTNS	OMIM:219800
HP:0004322	Short stature	10617	STAMBP	OMIM:614261
HP:0004322	Short stature	8367	H4C5	OMIM:619950
HP:0004322	Short stature	23417	MLYCD	OMIM:248360
HP:0004322	Short stature	64682	ANAPC1	OMIM:618625
HP:0004322	Short stature	64682	ANAPC1	ORPHA:221008
HP:0004322	Short stature	4047	LSS	ORPHA:2850
HP:0004322	Short stature	197	AHSG	ORPHA:2850
HP:0004322	Short stature	3694	ITGB6	ORPHA:2850
HP:0004322	Short stature	79848	CSPP1	ORPHA:397715
HP:0004322	Short stature	9786	KIAA0586	ORPHA:397715
HP:0004322	Short stature	1528	CYB5A	ORPHA:90796
HP:0004322	Short stature	1586	CYP17A1	ORPHA:90796
HP:0004322	Short stature	1028	CDKN1C	ORPHA:436144
HP:0004322	Short stature	526	ATP6V1B2	OMIM:616455
HP:0004322	Short stature	10730	YME1L1	OMIM:617302
HP:0004322	Short stature	4286	MITF	OMIM:617306
HP:0004322	Short stature	7486	WRN	OMIM:277700
HP:0004322	Short stature	7486	WRN	ORPHA:902
HP:0004322	Short stature	1584	CYP11B1	ORPHA:90795
HP:0004322	Short stature	1584	CYP11B1	OMIM:202010
HP:0004322	Short stature	51684	SUFU	ORPHA:280200
HP:0004322	Short stature	60561	RINT1	OMIM:618641
HP:0004322	Short stature	10584	COLEC10	OMIM:248340
HP:0004322	Short stature	25885	POLR1A	OMIM:616462
HP:0004322	Short stature	25885	POLR1A	ORPHA:1200
HP:0004322	Short stature	91869	RFT1	ORPHA:244310
HP:0004322	Short stature	91869	RFT1	OMIM:612015
HP:0004322	Short stature	816	CAMK2B	OMIM:617799
HP:0004322	Short stature	55699	IARS2	ORPHA:436174
HP:0004322	Short stature	55699	IARS2	OMIM:616007
HP:0004322	Short stature	79184	BRCC3	ORPHA:280679
HP:0004322	Short stature	2626	GATA4	ORPHA:251071
HP:0004322	Short stature	5354	PLP1	ORPHA:280210
HP:0004322	Short stature	5354	PLP1	OMIM:312080
HP:0004322	Short stature	1501	CTNND2	ORPHA:281
HP:0004322	Short stature	9037	SEMA5A	ORPHA:281
HP:0004322	Short stature	497661	C18orf32	OMIM:619985
HP:0004322	Short stature	26057	ANKRD17	OMIM:619504
HP:0004322	Short stature	3737	KCNA2	ORPHA:442835
HP:0004322	Short stature	1759	DNM1	ORPHA:442835
HP:0004322	Short stature	8120	AP3B2	ORPHA:442835
HP:0004322	Short stature	523	ATP6V1A	ORPHA:442835
HP:0004322	Short stature	523	ATP6V1A	ORPHA:357074
HP:0004322	Short stature	10991	SLC38A3	ORPHA:442835
HP:0004322	Short stature	51343	FZR1	ORPHA:442835
HP:0004322	Short stature	22906	TRAK1	ORPHA:442835
HP:0004322	Short stature	2566	GABRG2	ORPHA:442835
HP:0004322	Short stature	1917	EEF1A2	ORPHA:442835
HP:0004322	Short stature	2561	GABRB2	ORPHA:442835
HP:0004322	Short stature	8831	SYNGAP1	ORPHA:442835
HP:0004322	Short stature	7532	YWHAG	ORPHA:442835
HP:0004322	Short stature	79876	UBA5	ORPHA:442835
HP:0004322	Short stature	79876	UBA5	OMIM:617132
HP:0004322	Short stature	6328	SCN3A	ORPHA:442835
HP:0004322	Short stature	2558	GABRA5	ORPHA:442835
HP:0004322	Short stature	781	CACNA2D1	ORPHA:442835
HP:0004322	Short stature	2906	GRIN2D	ORPHA:442835
HP:0004322	Short stature	116150	NUS1	ORPHA:442835
HP:0004322	Short stature	10659	CELF2	ORPHA:442835
HP:0004322	Short stature	774	CACNA1B	ORPHA:442835
HP:0004322	Short stature	1213	CLTC	ORPHA:442835
HP:0004322	Short stature	51741	WWOX	ORPHA:442835
HP:0004322	Short stature	23334	SZT2	ORPHA:442835
HP:0004322	Short stature	51412	ACTL6B	ORPHA:442835
HP:0004322	Short stature	348980	HCN1	ORPHA:442835
HP:0004322	Short stature	6506	SLC1A2	ORPHA:442835
HP:0004322	Short stature	8867	SYNJ1	ORPHA:442835
HP:0004322	Short stature	2258	FGF13	ORPHA:442835
HP:0004322	Short stature	477	ATP1A2	ORPHA:442835
HP:0004322	Short stature	3745	KCNB1	ORPHA:442835
HP:0004322	Short stature	284111	SLC13A5	ORPHA:442835
HP:0004322	Short stature	284111	SLC13A5	ORPHA:1946
HP:0004322	Short stature	25977	NECAP1	ORPHA:442835
HP:0004322	Short stature	16	AARS1	ORPHA:442835
HP:0004322	Short stature	16	AARS1	OMIM:616339
HP:0004322	Short stature	6334	SCN8A	ORPHA:442835
HP:0004322	Short stature	22866	CNKSR2	ORPHA:442835
HP:0004322	Short stature	9568	GABBR2	ORPHA:442835
HP:0004322	Short stature	2555	GABRA2	ORPHA:442835
HP:0004322	Short stature	55152	DALRD3	ORPHA:442835
HP:0004322	Short stature	773	CACNA1A	ORPHA:442835
HP:0004322	Short stature	26999	CYFIP2	ORPHA:442835
HP:0004322	Short stature	4915	NTRK2	ORPHA:442835
HP:0004322	Short stature	25973	PARS2	ORPHA:442835
HP:0004322	Short stature	23097	CDK19	ORPHA:442835
HP:0004322	Short stature	64801	ARV1	ORPHA:442835
HP:0004322	Short stature	2257	FGF12	ORPHA:442835
HP:0004322	Short stature	5530	PPP3CA	ORPHA:442835
HP:0004322	Short stature	5530	PPP3CA	OMIM:618265
HP:0004322	Short stature	5530	PPP3CA	OMIM:617711
HP:0004322	Short stature	478	ATP1A3	ORPHA:442835
HP:0004322	Short stature	55623	THUMPD1	OMIM:619989
HP:0004322	Short stature	3476	IGBP1	ORPHA:52055
HP:0004322	Short stature	3476	IGBP1	OMIM:300472
HP:0004322	Short stature	3981	LIG4	ORPHA:235
HP:0004322	Short stature	54888	NSUN2	ORPHA:235
HP:0004322	Short stature	54888	NSUN2	OMIM:611091
HP:0004322	Short stature	253738	EBF3	OMIM:617330
HP:0004322	Short stature	56006	SMG9	OMIM:619995
HP:0004322	Short stature	85301	COL27A1	OMIM:615155
HP:0004322	Short stature	7862	BRPF1	OMIM:617333
HP:0004322	Short stature	9453	GGPS1	OMIM:619518
HP:0004322	Short stature	286	ANK1	ORPHA:251066
HP:0004322	Short stature	554	AVPR2	ORPHA:223
HP:0004322	Short stature	554	AVPR2	OMIM:304800
HP:0004322	Short stature	359	AQP2	ORPHA:223
HP:0004322	Short stature	359	AQP2	OMIM:125800
HP:0004322	Short stature	26137	ZBTB20	OMIM:259050
HP:0004322	Short stature	26137	ZBTB20	ORPHA:3042
HP:0004322	Short stature	7750	ZMYM2	OMIM:619522
HP:0004322	Short stature	8792	TNFRSF11A	ORPHA:2801
HP:0004322	Short stature	8792	TNFRSF11A	ORPHA:1782
HP:0004322	Short stature	57492	ARID1B	ORPHA:251056
HP:0004322	Short stature	57492	ARID1B	OMIM:135900
HP:0004322	Short stature	4626	MYH8	OMIM:158300
HP:0004322	Short stature	4626	MYH8	ORPHA:3377
HP:0004322	Short stature	3835	KIF22	OMIM:603546
HP:0004322	Short stature	3835	KIF22	ORPHA:93360
HP:0004322	Short stature	79989	IFT56	OMIM:619534
HP:0004322	Short stature	9922	IQSEC1	OMIM:618687
HP:0004322	Short stature	85365	ALG2	OMIM:607906
HP:0004322	Short stature	4193	MDM2	OMIM:618681
HP:0004322	Short stature	84522	JAGN1	OMIM:616022
HP:0004322	Short stature	57479	PRR12	OMIM:619539
HP:0004322	Short stature	79977	GRHL2	OMIM:616029
HP:0004322	Short stature	3172	HNF4A	OMIM:616026
HP:0004322	Short stature	79641	ROGDI	ORPHA:1946
HP:0004322	Short stature	29893	PSMC3IP	ORPHA:243
HP:0004322	Short stature	171568	POLR3H	ORPHA:243
HP:0004322	Short stature	2516	NR5A1	ORPHA:243
HP:0004322	Short stature	125150	ZSWIM7	ORPHA:243
HP:0004322	Short stature	9210	BMP15	ORPHA:243
HP:0004322	Short stature	23514	SPIDR	ORPHA:243
HP:0004322	Short stature	2492	FSHR	ORPHA:243
HP:0004322	Short stature	56945	MRPS22	ORPHA:243
HP:0004322	Short stature	646	BNC1	ORPHA:243
HP:0004322	Short stature	10058	ABCB6	ORPHA:241
HP:0004322	Short stature	6261	RYR1	OMIM:619542
HP:0004322	Short stature	8621	CDK13	OMIM:617360
HP:0004322	Short stature	93587	TRMT10A	OMIM:616033
HP:0004322	Short stature	6654	SOS1	OMIM:610733
HP:0004322	Short stature	6654	SOS1	ORPHA:648
HP:0004322	Short stature	8803	SUCLA2	ORPHA:1933
HP:0004322	Short stature	8803	SUCLA2	OMIM:612073
HP:0004322	Short stature	2737	GLI3	ORPHA:672
HP:0004322	Short stature	2737	GLI3	OMIM:146510
HP:0004322	Short stature	5076	PAX2	ORPHA:97362
HP:0004322	Short stature	5076	PAX2	OMIM:120330
HP:0004322	Short stature	5087	PBX1	ORPHA:97362
HP:0004322	Short stature	10466	COG5	ORPHA:263487
HP:0004322	Short stature	10466	COG5	OMIM:613612
HP:0004322	Short stature	6909	TBX2	OMIM:618223
HP:0004322	Short stature	55628	ZNF407	OMIM:619557
HP:0004322	Short stature	58484	NLRC4	OMIM:616050
HP:0004322	Short stature	55869	HDAC8	OMIM:300882
HP:0004322	Short stature	55869	HDAC8	ORPHA:3459
HP:0004322	Short stature	55869	HDAC8	ORPHA:199
HP:0004322	Short stature	1387	CREBBP	ORPHA:353281
HP:0004322	Short stature	1387	CREBBP	ORPHA:353277
HP:0004322	Short stature	1387	CREBBP	OMIM:180849
HP:0004322	Short stature	9342	SNAP29	ORPHA:66631
HP:0004322	Short stature	79048	SECISBP2	ORPHA:171706
HP:0004322	Short stature	79048	SECISBP2	OMIM:609698
HP:0004322	Short stature	23314	SATB2	ORPHA:251019
HP:0004322	Short stature	23314	SATB2	OMIM:612313
HP:0004322	Short stature	2033	EP300	ORPHA:353284
HP:0004322	Short stature	2033	EP300	OMIM:613684
HP:0004322	Short stature	2033	EP300	OMIM:180849
HP:0004322	Short stature	26128	KIFBP	ORPHA:66629
HP:0004322	Short stature	2710	GK	OMIM:307030
HP:0004322	Short stature	9126	SMC3	OMIM:610759
HP:0004322	Short stature	9126	SMC3	ORPHA:199
HP:0004322	Short stature	57551	TAOK1	OMIM:619575
HP:0004322	Short stature	10940	POP1	OMIM:617396
HP:0004322	Short stature	56915	EXOSC5	OMIM:619576
HP:0004322	Short stature	8260	NAA10	OMIM:300855
HP:0004322	Short stature	8260	NAA10	ORPHA:568
HP:0004322	Short stature	9820	CUL7	OMIM:273750
HP:0004322	Short stature	9820	CUL7	ORPHA:2616
HP:0004322	Short stature	23203	PMPCA	OMIM:213200
HP:0004322	Short stature	23203	PMPCA	ORPHA:1170
HP:0004322	Short stature	10483	SEC23B	ORPHA:201
HP:0004322	Short stature	5728	PTEN	ORPHA:201
HP:0004322	Short stature	5728	PTEN	ORPHA:79076
HP:0004322	Short stature	5728	PTEN	ORPHA:109
HP:0004322	Short stature	6391	SDHC	ORPHA:201
HP:0004322	Short stature	207	AKT1	ORPHA:201
HP:0004322	Short stature	205717	USF3	ORPHA:201
HP:0004322	Short stature	5290	PIK3CA	ORPHA:201
HP:0004322	Short stature	100144748	KLLN	ORPHA:201
HP:0004322	Short stature	9451	EIF2AK3	OMIM:226980
HP:0004322	Short stature	9451	EIF2AK3	ORPHA:1667
HP:0004322	Short stature	23384	SPECC1L	OMIM:145420
HP:0004322	Short stature	5573	PRKAR1A	OMIM:101800
HP:0004322	Short stature	5573	PRKAR1A	ORPHA:950
HP:0004322	Short stature	4990	SIX6	OMIM:206900
HP:0004322	Short stature	1300	COL10A1	OMIM:156500
HP:0004322	Short stature	3975	LHX1	ORPHA:261265
HP:0004322	Short stature	6928	HNF1B	ORPHA:261265
HP:0004322	Short stature	29895	MYL11	OMIM:619110
HP:0004322	Short stature	10847	SRCAP	OMIM:619595
HP:0004322	Short stature	10847	SRCAP	ORPHA:2044
HP:0004322	Short stature	10847	SRCAP	OMIM:136140
HP:0004322	Short stature	400916	CHCHD10	ORPHA:457050
HP:0004322	Short stature	400916	CHCHD10	OMIM:616209
HP:0004322	Short stature	6513	SLC2A1	ORPHA:168577
HP:0004322	Short stature	6513	SLC2A1	OMIM:608885
HP:0004322	Short stature	79809	TTC21B	OMIM:613819
HP:0004322	Short stature	79809	TTC21B	ORPHA:474
HP:0004322	Short stature	22983	MAST1	OMIM:618273
HP:0004322	Short stature	55755	CDK5RAP2	OMIM:604804
HP:0004322	Short stature	55755	CDK5RAP2	ORPHA:2512
HP:0004322	Short stature	28956	LAMTOR2	OMIM:610798
HP:0004322	Short stature	28956	LAMTOR2	ORPHA:90023
HP:0004322	Short stature	118924	FRA10AC1	OMIM:620113
HP:0004322	Short stature	4148	MATN3	OMIM:607078
HP:0004322	Short stature	4148	MATN3	ORPHA:156728
HP:0004322	Short stature	9895	TECPR2	ORPHA:320385
HP:0004322	Short stature	9895	TECPR2	OMIM:615031
HP:0004322	Short stature	3739	KCNA4	OMIM:618284
HP:0004322	Short stature	23259	DDHD2	ORPHA:320380
HP:0004322	Short stature	23259	DDHD2	OMIM:615033
HP:0004322	Short stature	22800	RRAS2	ORPHA:648
HP:0004322	Short stature	867	CBL	ORPHA:648
HP:0004322	Short stature	867	CBL	OMIM:613563
HP:0004322	Short stature	6016	RIT1	ORPHA:648
HP:0004322	Short stature	6016	RIT1	OMIM:615355
HP:0004322	Short stature	6237	RRAS	ORPHA:648
HP:0004322	Short stature	5894	RAF1	ORPHA:648
HP:0004322	Short stature	5894	RAF1	OMIM:611554
HP:0004322	Short stature	5894	RAF1	OMIM:611553
HP:0004322	Short stature	5894	RAF1	ORPHA:500
HP:0004322	Short stature	22808	MRAS	ORPHA:648
HP:0004322	Short stature	22808	MRAS	OMIM:618499
HP:0004322	Short stature	3845	KRAS	ORPHA:648
HP:0004322	Short stature	3845	KRAS	OMIM:163200
HP:0004322	Short stature	3845	KRAS	ORPHA:1340
HP:0004322	Short stature	3845	KRAS	OMIM:609942
HP:0004322	Short stature	200734	SPRED2	ORPHA:648
HP:0004322	Short stature	200734	SPRED2	OMIM:619745
HP:0004322	Short stature	4893	NRAS	ORPHA:648
HP:0004322	Short stature	4893	NRAS	OMIM:163200
HP:0004322	Short stature	4893	NRAS	OMIM:613224
HP:0004322	Short stature	5781	PTPN11	ORPHA:648
HP:0004322	Short stature	5781	PTPN11	ORPHA:500
HP:0004322	Short stature	5781	PTPN11	OMIM:151100
HP:0004322	Short stature	5781	PTPN11	OMIM:163950
HP:0004322	Short stature	5922	RASA2	ORPHA:648
HP:0004322	Short stature	4683	NBN	ORPHA:647
HP:0004322	Short stature	4683	NBN	OMIM:251260
HP:0004322	Short stature	4508	MT-ATP6	ORPHA:644
HP:0004322	Short stature	5257	PHKB	OMIM:261750
HP:0004322	Short stature	5257	PHKB	ORPHA:79240
HP:0004322	Short stature	8665	EIF3F	OMIM:618295
HP:0004322	Short stature	9652	SKIC3	ORPHA:84064
HP:0004322	Short stature	9652	SKIC3	OMIM:222470
HP:0004322	Short stature	6499	SKIC2	ORPHA:84064
HP:0004322	Short stature	8517	IKBKG	OMIM:308300
HP:0004322	Short stature	8517	IKBKG	ORPHA:464
HP:0004322	Short stature	121340	SP7	OMIM:613849
HP:0004322	Short stature	11005	SPINK5	ORPHA:634
HP:0004322	Short stature	7337	UBE3A	ORPHA:238446
HP:0004322	Short stature	4621	MYH3	ORPHA:2053
HP:0004322	Short stature	4621	MYH3	ORPHA:1147
HP:0004322	Short stature	4621	MYH3	ORPHA:2990
HP:0004322	Short stature	4621	MYH3	OMIM:618436
HP:0004322	Short stature	4621	MYH3	OMIM:178110
HP:0004322	Short stature	259232	NALCN	ORPHA:2053
HP:0004322	Short stature	259232	NALCN	ORPHA:1147
HP:0004322	Short stature	259232	NALCN	ORPHA:371364
HP:0004322	Short stature	10262	SF3B4	OMIM:154400
HP:0004322	Short stature	9871	SEC24D	ORPHA:2050
HP:0004322	Short stature	9871	SEC24D	OMIM:616294
HP:0004322	Short stature	23019	CNOT1	OMIM:619033
HP:0004322	Short stature	7109	TRAPPC10	OMIM:620027
HP:0004322	Short stature	7109	TRAPPC10	ORPHA:2512
HP:0004322	Short stature	10274	STAG1	ORPHA:502434
HP:0004322	Short stature	1119	CHKA	OMIM:620023
HP:0004322	Short stature	8496	PPFIBP1	OMIM:620024
HP:0004322	Short stature	5111	PCNA	OMIM:615919
HP:0004322	Short stature	5111	PCNA	ORPHA:438134
HP:0004322	Short stature	2617	GARS1	OMIM:619042
HP:0004322	Short stature	170302	ARX	OMIM:300004
HP:0004322	Short stature	170302	ARX	ORPHA:2508
HP:0004322	Short stature	162	AP1B1	OMIM:242150
HP:0004322	Short stature	1184	CLCN5	OMIM:300009
HP:0004322	Short stature	1184	CLCN5	OMIM:300554
HP:0004322	Short stature	1184	CLCN5	OMIM:308990
HP:0004322	Short stature	23431	AP4E1	OMIM:613744
HP:0004322	Short stature	23431	AP4E1	ORPHA:280763
HP:0004322	Short stature	25782	RAB3GAP2	OMIM:212720
HP:0004322	Short stature	25782	RAB3GAP2	ORPHA:2510
HP:0004322	Short stature	25782	RAB3GAP2	ORPHA:1387
HP:0004322	Short stature	5744	PTHLH	ORPHA:93387
HP:0004322	Short stature	5744	PTHLH	OMIM:613382
HP:0004322	Short stature	658	BMPR1B	ORPHA:93384
HP:0004322	Short stature	658	BMPR1B	ORPHA:93388
HP:0004322	Short stature	658	BMPR1B	ORPHA:2639
HP:0004322	Short stature	10472	ZBTB18	ORPHA:36367
HP:0004322	Short stature	10472	ZBTB18	OMIM:612337
HP:0004322	Short stature	7298	TYMS	OMIM:620040
HP:0004322	Short stature	7298	TYMS	ORPHA:1775
HP:0004322	Short stature	51204	TACO1	OMIM:619052
HP:0004322	Short stature	28958	COA3	OMIM:619058
HP:0004322	Short stature	8647	ABCB11	OMIM:601847
HP:0004322	Short stature	1351	COX8A	OMIM:619059
HP:0004322	Short stature	9739	SETD1A	OMIM:619056
HP:0004322	Short stature	340024	SLC6A19	OMIM:234500
HP:0004322	Short stature	340024	SLC6A19	ORPHA:2116
HP:0004322	Short stature	3117	HLA-DQA1	OMIM:212750
HP:0004322	Short stature	3119	HLA-DQB1	OMIM:212750
HP:0004322	Short stature	8289	ARID1A	OMIM:614607
HP:0004322	Short stature	7080	NKX2-1	ORPHA:209905
HP:0004322	Short stature	7080	NKX2-1	ORPHA:95713
HP:0004322	Short stature	6598	SMARCB1	OMIM:614608
HP:0004322	Short stature	6597	SMARCA4	OMIM:614609
HP:0004322	Short stature	1327	COX4I1	OMIM:619060
HP:0004322	Short stature	54476	RNF216	ORPHA:1173
HP:0004322	Short stature	4212	MEIS2	OMIM:600987
HP:0004322	Short stature	4212	MEIS2	ORPHA:261190
HP:0004322	Short stature	26053	AUTS2	ORPHA:352490
HP:0004322	Short stature	26053	AUTS2	OMIM:615834
HP:0004322	Short stature	4697	NDUFA4	OMIM:619065
HP:0004322	Short stature	4591	TRIM37	OMIM:253250
HP:0004322	Short stature	4591	TRIM37	ORPHA:2576
HP:0004322	Short stature	1302	COL11A2	ORPHA:2021
HP:0004322	Short stature	1302	COL11A2	OMIM:215150
HP:0004322	Short stature	657	BMPR1A	ORPHA:79076
HP:0004322	Short stature	10382	TUBB4A	OMIM:612438
HP:0004322	Short stature	55154	MSTO1	ORPHA:502423
HP:0004322	Short stature	55154	MSTO1	OMIM:617675
HP:0004322	Short stature	3265	HRAS	OMIM:218040
HP:0004322	Short stature	3265	HRAS	OMIM:163200
HP:0004322	Short stature	3265	HRAS	ORPHA:3071
HP:0004322	Short stature	6197	RPS6KA3	ORPHA:276630
HP:0004322	Short stature	6197	RPS6KA3	OMIM:303600
HP:0004322	Short stature	6197	RPS6KA3	ORPHA:192
HP:0004322	Short stature	2629	GBA1	OMIM:231000
HP:0004322	Short stature	2335	FN1	OMIM:184255
HP:0004322	Short stature	2335	FN1	ORPHA:93315
HP:0004322	Short stature	1802	DPH2	OMIM:620062
HP:0004322	Short stature	6521	SLC4A1	OMIM:611590
HP:0004322	Short stature	6774	STAT3	OMIM:615952
HP:0004322	Short stature	55027	HEATR3	OMIM:620072
HP:0004322	Short stature	51611	DPH5	OMIM:620070
HP:0004322	Short stature	8905	AP1S2	ORPHA:85329
HP:0004322	Short stature	79813	EHMT1	ORPHA:261652
HP:0004322	Short stature	58508	KMT2C	ORPHA:261652
HP:0004322	Short stature	25970	SH2B1	ORPHA:329249
HP:0004322	Short stature	8838	CCN6	ORPHA:1159
HP:0004322	Short stature	84919	PPP1R15B	OMIM:616817
HP:0004322	Short stature	6231	RPS26	OMIM:613309
HP:0004322	Short stature	6231	RPS26	ORPHA:124
HP:0004322	Short stature	51085	MLXIPL	OMIM:194050
HP:0004322	Short stature	51085	MLXIPL	ORPHA:904
HP:0004322	Short stature	2006	ELN	OMIM:194050
HP:0004322	Short stature	2006	ELN	ORPHA:904
HP:0004322	Short stature	3178	HNRNPA1	ORPHA:52430
HP:0004322	Short stature	7415	VCP	ORPHA:52430
HP:0004322	Short stature	3181	HNRNPA2B1	ORPHA:52430
HP:0004322	Short stature	3187	HNRNPH1	OMIM:620083
HP:0004322	Short stature	4920	ROR2	OMIM:268310
HP:0004322	Short stature	22880	MORC2	OMIM:619090
HP:0004322	Short stature	50484	RRM2B	OMIM:268315
HP:0004322	Short stature	7140	TNNT3	ORPHA:1147
HP:0004322	Short stature	7136	TNNI2	ORPHA:1147
HP:0004322	Short stature	7136	TNNI2	OMIM:601680
HP:0004322	Short stature	5167	ENPP1	OMIM:613312
HP:0004322	Short stature	5167	ENPP1	ORPHA:289176
HP:0004322	Short stature	5167	ENPP1	OMIM:208000
HP:0004322	Short stature	8195	MKKS	ORPHA:2473
HP:0004322	Short stature	8195	MKKS	ORPHA:110
HP:0004322	Short stature	51750	RTEL1	ORPHA:3322
HP:0004322	Short stature	51750	RTEL1	ORPHA:1775
HP:0004322	Short stature	65057	ACD	ORPHA:3322
HP:0004322	Short stature	5073	PARN	ORPHA:3322
HP:0004322	Short stature	5073	PARN	ORPHA:1775
HP:0004322	Short stature	7015	TERT	ORPHA:3322
HP:0004322	Short stature	7015	TERT	OMIM:613989
HP:0004322	Short stature	7015	TERT	ORPHA:1775
HP:0004322	Short stature	26277	TINF2	ORPHA:3322
HP:0004322	Short stature	26277	TINF2	OMIM:613990
HP:0004322	Short stature	26277	TINF2	ORPHA:1775
HP:0004322	Short stature	1736	DKC1	ORPHA:3322
HP:0004322	Short stature	1736	DKC1	OMIM:305000
HP:0004322	Short stature	1736	DKC1	ORPHA:1775
HP:0004322	Short stature	9775	EIF4A3	OMIM:268305
HP:0004322	Short stature	29072	SETD2	OMIM:616831
HP:0004322	Short stature	51025	PAM16	OMIM:613320
HP:0004322	Short stature	3897	L1CAM	ORPHA:2466
HP:0004322	Short stature	3897	L1CAM	OMIM:303350
HP:0004322	Short stature	4352	MPL	ORPHA:3319
HP:0004322	Short stature	7066	THPO	ORPHA:3319
HP:0004322	Short stature	84695	LOXL3	ORPHA:250984
HP:0004322	Short stature	10664	CTCF	OMIM:615502
HP:0004322	Short stature	6307	MSMO1	OMIM:616834
HP:0004322	Short stature	55112	DYNC2I1	OMIM:615503
HP:0004322	Short stature	55112	DYNC2I1	ORPHA:474
HP:0004322	Short stature	9780	PIEZO1	OMIM:616843
HP:0004322	Short stature	22845	DOLK	ORPHA:91131
HP:0004322	Short stature	411	ARSB	OMIM:253200
HP:0004322	Short stature	10525	HYOU1	OMIM:233600
HP:0004322	Short stature	55784	MCTP2	ORPHA:1596
HP:0004322	Short stature	26224	FBXL3	OMIM:606220
HP:0004322	Short stature	11253	MAN1B1	OMIM:614202
HP:0004322	Short stature	5925	RB1	ORPHA:1587
HP:0004322	Short stature	27315	PGAP2	OMIM:614207
HP:0004322	Short stature	83987	CCDC8	OMIM:614205
HP:0004322	Short stature	83987	CCDC8	ORPHA:2616
HP:0004322	Short stature	64093	SMOC1	ORPHA:1106
HP:0004322	Short stature	80185	TTI2	OMIM:615541
HP:0004322	Short stature	80185	TTI2	ORPHA:391307
HP:0004322	Short stature	3758	KCNJ1	OMIM:241200
HP:0004322	Short stature	547	KIF1A	OMIM:614213
HP:0004322	Short stature	1001	CDH3	ORPHA:1573
HP:0004322	Short stature	3418	IDH2	ORPHA:163634
HP:0004322	Short stature	3417	IDH1	ORPHA:163634
HP:0004322	Short stature	3417	IDH1	ORPHA:99646
HP:0004322	Short stature	55644	OSGEP	OMIM:617729
HP:0004322	Short stature	55644	OSGEP	ORPHA:2065
HP:0004322	Short stature	112858	TP53RK	OMIM:617730
HP:0004322	Short stature	112858	TP53RK	ORPHA:2065
HP:0004322	Short stature	54361	WNT4	ORPHA:247768
HP:0004322	Short stature	83737	ITCH	OMIM:613385
HP:0004322	Short stature	4780	NFE2L2	OMIM:617744
HP:0004322	Short stature	6569	SLC34A1	OMIM:613388
HP:0004322	Short stature	6569	SLC34A1	ORPHA:157215
HP:0004322	Short stature	2071	ERCC3	ORPHA:220295
HP:0004322	Short stature	2071	ERCC3	OMIM:616390
HP:0004322	Short stature	2071	ERCC3	OMIM:610651
HP:0004322	Short stature	2071	ERCC3	ORPHA:910
HP:0004322	Short stature	9215	LARGE1	OMIM:608840
HP:0004322	Short stature	3756	KCNH1	ORPHA:420561
HP:0004322	Short stature	10717	AP4B1	ORPHA:280763
HP:0004322	Short stature	10717	AP4B1	OMIM:614066
HP:0004322	Short stature	9179	AP4M1	ORPHA:280763
HP:0004322	Short stature	11154	AP4S1	ORPHA:280763
HP:0004322	Short stature	11154	AP4S1	OMIM:614067
HP:0004322	Short stature	2186	BPTF	OMIM:617755
HP:0004322	Short stature	2990	GUSB	OMIM:253220
HP:0004322	Short stature	23404	EXOSC2	OMIM:617763
HP:0004322	Short stature	55331	ACER3	OMIM:617762
HP:0004322	Short stature	92935	MARS2	OMIM:616430
HP:0004322	Short stature	7043	TGFB3	OMIM:615582
HP:0004322	Short stature	22827	PUF60	OMIM:615583
HP:0004322	Short stature	22827	PUF60	ORPHA:508498
HP:0004322	Short stature	22827	PUF60	ORPHA:508488
HP:0004322	Short stature	8074	FGF23	OMIM:193100
HP:0004322	Short stature	5238	PGM3	ORPHA:443811
HP:0004322	Short stature	4897	NRCAM	OMIM:619833
HP:0004322	Short stature	91147	TMEM67	OMIM:602152
HP:0004322	Short stature	6662	SOX9	ORPHA:140
HP:0004322	Short stature	23498	HAAO	OMIM:617660
HP:0004322	Short stature	9578	CDC42BPB	OMIM:619841
HP:0004322	Short stature	64412	GZF1	OMIM:617662
HP:0004322	Short stature	1841	DTYMK	OMIM:619847
HP:0004322	Short stature	3149	HMGB3	OMIM:300915
HP:0004322	Short stature	3716	JAK1	OMIM:618999
HP:0004322	Short stature	57082	KNL1	OMIM:604321
HP:0004322	Short stature	57082	KNL1	ORPHA:2512
HP:0004322	Short stature	55636	CHD7	ORPHA:138
HP:0004322	Short stature	9723	SEMA3E	ORPHA:138
HP:0004322	Short stature	29957	SLC25A24	ORPHA:2963
HP:0004322	Short stature	29957	SLC25A24	ORPHA:2095
HP:0004322	Short stature	29957	SLC25A24	OMIM:612289
HP:0004322	Short stature	818	CAMK2G	OMIM:618522
HP:0004322	Short stature	10606	PAICS	OMIM:619859
HP:0004322	Short stature	64359	NXN	OMIM:618529
HP:0004322	Short stature	9968	MED12	ORPHA:93932
HP:0004322	Short stature	9968	MED12	OMIM:305450
HP:0004322	Short stature	9968	MED12	OMIM:301068
HP:0004322	Short stature	7994	KAT6A	ORPHA:457193
HP:0004322	Short stature	5139	PDE3A	OMIM:112410
HP:0004322	Short stature	5139	PDE3A	ORPHA:1276
HP:0004322	Short stature	10484	SEC23A	OMIM:607812
HP:0004322	Short stature	10484	SEC23A	ORPHA:50814
HP:0004322	Short stature	8550	MAPKAPK5	OMIM:619869
HP:0004322	Short stature	23007	PLCH1	ORPHA:93925
HP:0004322	Short stature	4645	MYO5B	OMIM:619868
HP:0004322	Short stature	81794	ADAMTS10	OMIM:277600
HP:0004322	Short stature	81794	ADAMTS10	ORPHA:3449
HP:0004322	Short stature	92482	BBIP1	ORPHA:110
HP:0004322	Short stature	11020	IFT27	ORPHA:110
HP:0004322	Short stature	582	BBS1	ORPHA:110
HP:0004322	Short stature	49855	SCAPER	ORPHA:110
HP:0004322	Short stature	51057	WDPCP	ORPHA:110
HP:0004322	Short stature	27241	BBS9	ORPHA:110
HP:0004322	Short stature	84984	CEP19	ORPHA:110
HP:0004322	Short stature	22954	TRIM32	ORPHA:110
HP:0004322	Short stature	54903	MKS1	ORPHA:110
HP:0004322	Short stature	79738	BBS10	ORPHA:110
HP:0004322	Short stature	123016	TTC8	ORPHA:110
HP:0004322	Short stature	583	BBS2	ORPHA:110
HP:0004322	Short stature	585	BBS4	ORPHA:110
HP:0004322	Short stature	54585	LZTFL1	ORPHA:110
HP:0004322	Short stature	55212	BBS7	ORPHA:110
HP:0004322	Short stature	166379	BBS12	ORPHA:110
HP:0004322	Short stature	157657	CFAP418	ORPHA:110
HP:0004322	Short stature	84100	ARL6	ORPHA:110
HP:0004322	Short stature	129880	BBS5	ORPHA:110
HP:0004322	Short stature	80173	IFT74	ORPHA:110
HP:0004322	Short stature	402381	SOHLH1	OMIM:617690
HP:0004322	Short stature	3590	IL11RA	OMIM:614188
HP:0004322	Short stature	23126	POGZ	OMIM:616364
HP:0004322	Short stature	23126	POGZ	ORPHA:468678
HP:0004322	Short stature	55773	TBC1D23	OMIM:617695
HP:0004322	Short stature	1594	CYP27B1	ORPHA:289157
HP:0004322	Short stature	120227	CYP2R1	ORPHA:289157
HP:0004322	Short stature	8558	CDK10	OMIM:617694
HP:0004322	Short stature	3098	HK1	OMIM:618547
HP:0004322	Short stature	5590	PRKCZ	ORPHA:1606
HP:0004322	Short stature	2563	GABRD	ORPHA:1606
HP:0004322	Short stature	23013	SPEN	ORPHA:1606
HP:0004322	Short stature	8510	MMP23B	ORPHA:1606
HP:0004322	Short stature	7798	LUZP1	ORPHA:1606
HP:0004322	Short stature	6497	SKI	ORPHA:1606
HP:0004322	Short stature	10630	PDPN	ORPHA:1606
HP:0004322	Short stature	10277	UBE4B	ORPHA:1606
HP:0004322	Short stature	8514	KCNAB2	ORPHA:1606
HP:0004322	Short stature	63976	PRDM16	ORPHA:1606
HP:0004322	Short stature	54897	CASZ1	ORPHA:1606
HP:0004322	Short stature	285362	SUMF1	ORPHA:585
HP:0004322	Short stature	285362	SUMF1	OMIM:272200
HP:0004322	Short stature	472	ATM	ORPHA:100
HP:0004322	Short stature	472	ATM	OMIM:208900
HP:0004322	Short stature	79633	FAT4	ORPHA:314679
HP:0004322	Short stature	8642	DCHS1	ORPHA:314679
HP:0004322	Short stature	1758	DMP1	ORPHA:289176
HP:0004322	Short stature	57679	ALS2	OMIM:205100
HP:0004322	Short stature	84295	PHF6	ORPHA:127
HP:0004322	Short stature	84295	PHF6	OMIM:301900
HP:0004322	Short stature	6135	RPL11	ORPHA:124
HP:0004322	Short stature	6138	RPL15	ORPHA:124
HP:0004322	Short stature	6229	RPS24	ORPHA:124
HP:0004322	Short stature	6125	RPL5	ORPHA:124
HP:0004322	Short stature	6204	RPS10	ORPHA:124
HP:0004322	Short stature	6224	RPS20	ORPHA:124
HP:0004322	Short stature	2623	GATA1	ORPHA:124
HP:0004322	Short stature	2623	GATA1	OMIM:190685
HP:0004322	Short stature	6223	RPS19	ORPHA:124
HP:0004322	Short stature	6223	RPS19	OMIM:105650
HP:0004322	Short stature	6232	RPS27	ORPHA:124
HP:0004322	Short stature	11224	RPL35	ORPHA:124
HP:0004322	Short stature	6160	RPL31	ORPHA:124
HP:0004322	Short stature	6155	RPL27	ORPHA:124
HP:0004322	Short stature	6154	RPL26	ORPHA:124
HP:0004322	Short stature	6154	RPL26	OMIM:614900
HP:0004322	Short stature	6210	RPS15A	ORPHA:124
HP:0004322	Short stature	90121	TSR2	ORPHA:124
HP:0004322	Short stature	6141	RPL18	ORPHA:124
HP:0004322	Short stature	6235	RPS29	ORPHA:124
HP:0004322	Short stature	6234	RPS28	ORPHA:124
HP:0004322	Short stature	6234	RPS28	OMIM:606164
HP:0004322	Short stature	51816	ADA2	ORPHA:124
HP:0004322	Short stature	404672	GTF2H5	OMIM:616395
HP:0004322	Short stature	205327	C2orf69	OMIM:619423
HP:0004322	Short stature	26173	INTS1	OMIM:618571
HP:0004322	Short stature	9427	ECEL1	OMIM:615065
HP:0004322	Short stature	55656	INTS8	OMIM:618572
HP:0004322	Short stature	55151	TMEM38B	OMIM:615066
HP:0004322	Short stature	7201	TRHR	OMIM:618573
HP:0004322	Short stature	165918	RNF168	OMIM:611943
HP:0004322	Short stature	165918	RNF168	ORPHA:420741
HP:0004322	Short stature	9949	AMMECR1	OMIM:300990
HP:0004322	Short stature	4558	MT-TF	ORPHA:551
HP:0004322	Short stature	4558	MT-TF	ORPHA:550
HP:0004322	Short stature	4567	MT-TL1	ORPHA:551
HP:0004322	Short stature	4567	MT-TL1	ORPHA:550
HP:0004322	Short stature	4549	MT-RNR1	ORPHA:551
HP:0004322	Short stature	4574	MT-TS1	ORPHA:551
HP:0004322	Short stature	4574	MT-TS1	ORPHA:550
HP:0004322	Short stature	4575	MT-TS2	ORPHA:551
HP:0004322	Short stature	4575	MT-TS2	ORPHA:550
HP:0004322	Short stature	4571	MT-TP	ORPHA:551
HP:0004322	Short stature	4572	MT-TQ	ORPHA:551
HP:0004322	Short stature	4572	MT-TQ	ORPHA:550
HP:0004322	Short stature	4540	MT-ND5	ORPHA:551
HP:0004322	Short stature	4540	MT-ND5	ORPHA:550
HP:0004322	Short stature	4566	MT-TK	ORPHA:551
HP:0004322	Short stature	4564	MT-TH	ORPHA:551
HP:0004322	Short stature	4564	MT-TH	ORPHA:550
HP:0004322	Short stature	4512	MT-CO1	ORPHA:550
HP:0004322	Short stature	4513	MT-CO2	ORPHA:550
HP:0004322	Short stature	4514	MT-CO3	ORPHA:550
HP:0004322	Short stature	4578	MT-TW	ORPHA:550
HP:0004322	Short stature	4541	MT-ND6	ORPHA:550
HP:0004322	Short stature	4535	MT-ND1	ORPHA:550
HP:0004322	Short stature	4538	MT-ND4	ORPHA:550
HP:0004322	Short stature	6134	RPL10	OMIM:300998
HP:0004322	Short stature	56896	DPYSL5	OMIM:619435
HP:0004322	Short stature	1859	DYRK1A	ORPHA:268261
HP:0004322	Short stature	1859	DYRK1A	OMIM:614104
HP:0004322	Short stature	6418	SET	OMIM:618106
HP:0004322	Short stature	7707	ZNF148	OMIM:617260
HP:0004322	Short stature	3778	KCNMA1	OMIM:618596
HP:0004322	Short stature	23729	SHPK	ORPHA:440713
HP:0004322	Short stature	4952	OCRL	ORPHA:534
HP:0004322	Short stature	4952	OCRL	OMIM:300555
HP:0004322	Short stature	4952	OCRL	OMIM:309000
HP:0004322	Short stature	56975	FAM20C	OMIM:259775
HP:0004322	Short stature	79158	GNPTAB	ORPHA:576
HP:0004322	Short stature	79158	GNPTAB	OMIM:252600
HP:0004322	Short stature	4784	NFIX	OMIM:602535
HP:0004322	Short stature	55250	ELP2	OMIM:617270
HP:0004322	Short stature	3039	HBA1	ORPHA:98791
HP:0004322	Short stature	3040	HBA2	ORPHA:98791
HP:0004322	Short stature	2735	GLI1	OMIM:618123
HP:0004322	Short stature	8888	MCM3AP	OMIM:618124
HP:0004322	Short stature	51132	RLIM	OMIM:300978
HP:0004322	Short stature	513	ATP5F1D	OMIM:618120
HP:0004322	Short stature	1312	COMT	ORPHA:567
HP:0004322	Short stature	221037	JMJD1C	ORPHA:567
HP:0004322	Short stature	2812	GP1BB	ORPHA:567
HP:0004322	Short stature	6239	RREB1	ORPHA:567
HP:0004322	Short stature	6899	TBX1	ORPHA:567
HP:0004322	Short stature	6899	TBX1	OMIM:192430
HP:0004322	Short stature	6899	TBX1	OMIM:188400
HP:0004322	Short stature	7290	HIRA	ORPHA:567
HP:0004322	Short stature	9632	SEC24C	ORPHA:567
HP:0004322	Short stature	7353	UFD1	ORPHA:567
HP:0004322	Short stature	421	ARVCF	ORPHA:567
HP:0004322	Short stature	3858	KRT10	OMIM:609165
HP:0004322	Short stature	54880	BCOR	ORPHA:568
HP:0004322	Short stature	54880	BCOR	OMIM:300166
HP:0004322	Short stature	6557	SLC12A1	OMIM:601678
HP:0004322	Short stature	633	BGN	OMIM:300989
HP:0004322	Short stature	146206	CARMIL2	OMIM:618131
HP:0004322	Short stature	3188	HNRNPH2	OMIM:300986
HP:0004322	Short stature	4613	MYCN	ORPHA:391641
HP:0004322	Short stature	57187	THOC2	OMIM:300957
HP:0004322	Short stature	57187	THOC2	ORPHA:457240
HP:0004322	Short stature	10526	IPO8	OMIM:619472
HP:0004322	Short stature	2892	GRIA3	ORPHA:364028
HP:0004322	Short stature	2892	GRIA3	OMIM:300699
HP:0004322	Short stature	7737	RNF113A	OMIM:300953
HP:0004322	Short stature	4361	MRE11	ORPHA:251347
HP:0004322	Short stature	64327	LMBR1	ORPHA:988
HP:0004322	Short stature	9060	PAPSS2	OMIM:612847
HP:0004322	Short stature	673	BRAF	ORPHA:500
HP:0004322	Short stature	673	BRAF	OMIM:613707
HP:0004322	Short stature	673	BRAF	OMIM:613706
HP:0004322	Short stature	673	BRAF	OMIM:115150
HP:0004322	Short stature	673	BRAF	ORPHA:1340
HP:0004322	Short stature	673	BRAF	OMIM:163950
HP:0004322	Short stature	25839	COG4	OMIM:618150
HP:0004322	Short stature	25839	COG4	ORPHA:85172
HP:0004322	Short stature	8567	MADD	OMIM:619004
HP:0004322	Short stature	2760	GM2A	ORPHA:309246
HP:0004322	Short stature	60676	PAPPA2	OMIM:619489
HP:0004322	Short stature	8239	USP9X	OMIM:300968
HP:0004322	Short stature	8239	USP9X	ORPHA:480880
HP:0004322	Short stature	2628	GATM	OMIM:134600
HP:0004322	Short stature	2998	GYS2	ORPHA:2089
HP:0004322	Short stature	407975	MIR17HG	ORPHA:391646
HP:0004322	Short stature	55599	RNPC3	OMIM:618160
HP:0004322	Short stature	5317	PKP1	ORPHA:158668
HP:0004322	Short stature	7157	TP53	OMIM:618165
HP:0004322	Short stature	2193	FARSA	OMIM:619013
HP:0004322	Short stature	203190	LGI3	OMIM:620007
HP:0004322	Short stature	9897	WASHC5	ORPHA:7
HP:0004322	Short stature	28952	CCDC22	ORPHA:7
HP:0004322	Short stature	64432	MRPS25	OMIM:619025
HP:0004322	Short stature	1496	CTNNA2	OMIM:618174
HP:0004322	Short stature	84168	ANTXR1	ORPHA:2067
HP:0004322	Short stature	51002	TPRKB	ORPHA:2065
HP:0004322	Short stature	84942	WDR73	ORPHA:2065
HP:0004322	Short stature	84942	WDR73	OMIM:251300
HP:0004322	Short stature	55746	NUP133	ORPHA:2065
HP:0004322	Short stature	8270	LAGE3	ORPHA:2065
HP:0004322	Short stature	8270	LAGE3	OMIM:301006
HP:0004322	Short stature	26276	VPS33B	OMIM:620010
HP:0004322	Short stature	7355	SLC35A2	ORPHA:356961
HP:0004322	Short stature	123263	MTFMT	OMIM:614947
HP:0004322	Short stature	9839	ZEB2	OMIM:235730
HP:0004322	Short stature	9839	ZEB2	ORPHA:261552
HP:0004322	Short stature	9839	ZEB2	ORPHA:261537
HP:0004322	Short stature	2542	SLC37A4	OMIM:232220
HP:0004322	Short stature	2542	SLC37A4	ORPHA:79259
HP:0004322	Short stature	51506	UFC1	OMIM:618076
HP:0004322	Short stature	80055	PGAP1	OMIM:615802
HP:0004322	Short stature	10225	CD96	OMIM:211750
HP:0004322	Short stature	10225	CD96	ORPHA:1308
HP:0004322	Short stature	1763	DNA2	OMIM:615807
HP:0004322	Short stature	3766	KCNJ10	OMIM:612780
HP:0004322	Short stature	80204	FBXO11	OMIM:618089
HP:0004322	Short stature	50814	NSDHL	OMIM:308050
HP:0004322	Short stature	2538	G6PC1	OMIM:232200
HP:0004322	Short stature	3953	LEPR	OMIM:614963
HP:0004322	Short stature	23325	WASHC4	OMIM:615817
HP:0004322	Short stature	57531	HACE1	ORPHA:464282
HP:0004322	Short stature	57531	HACE1	OMIM:616756
HP:0004322	Short stature	9896	FIG4	ORPHA:3472
HP:0004322	Short stature	55697	VAC14	ORPHA:3472
HP:0004322	Short stature	7156	TOP3A	OMIM:618097
HP:0004322	Short stature	7020	TFAP2A	ORPHA:1297
HP:0004322	Short stature	3425	IDUA	OMIM:607014
HP:0004322	Short stature	3425	IDUA	OMIM:607015
HP:0004322	Short stature	3425	IDUA	ORPHA:93473
HP:0004322	Short stature	3425	IDUA	ORPHA:93476
HP:0004322	Short stature	3192	HNRNPU	ORPHA:238769
HP:0004322	Short stature	2903	GRIN2A	OMIM:245570
HP:0004322	Short stature	2903	GRIN2A	ORPHA:289266
HP:0004322	Short stature	5063	PAK3	OMIM:300558
HP:0004322	Short stature	10056	FARSB	OMIM:613658
HP:0004322	Short stature	3748	KCNC3	ORPHA:98768
HP:0004322	Short stature	54499	TMCO1	OMIM:213980
HP:0004322	Short stature	54499	TMCO1	ORPHA:1394
HP:0004322	Short stature	10436	EMG1	ORPHA:1270
HP:0004322	Short stature	81887	LAS1L	ORPHA:3459
HP:0004322	Short stature	5422	POLA1	ORPHA:163976
HP:0004322	Short stature	5422	POLA1	OMIM:301030
HP:0004322	Short stature	10661	KLF1	OMIM:613673
HP:0004322	Short stature	57393	CLTRN	ORPHA:2116
HP:0004322	Short stature	55275	VPS53	OMIM:615851
HP:0004322	Short stature	64116	SLC39A8	ORPHA:468699
HP:0004322	Short stature	64116	SLC39A8	OMIM:616721
HP:0004322	Short stature	28962	OSTM1	OMIM:259720
HP:0004322	Short stature	355	FAS	ORPHA:3437
HP:0004322	Short stature	26191	PTPN22	ORPHA:3437
HP:0004322	Short stature	6664	SOX11	OMIM:615866
HP:0004322	Short stature	91949	COG7	OMIM:608779
HP:0004322	Short stature	2245	FGD1	OMIM:305400
HP:0004322	Short stature	2245	FGD1	ORPHA:915
HP:0004322	Short stature	124997	WDR81	OMIM:610185
HP:0004322	Short stature	124997	WDR81	ORPHA:1766
HP:0004322	Short stature	23028	KDM1A	OMIM:616728
HP:0004322	Short stature	55593	OTUD5	OMIM:301056
HP:0004322	Short stature	4854	NOTCH3	OMIM:130720
HP:0004322	Short stature	10982	MAPRE2	OMIM:616734
HP:0004322	Short stature	10982	MAPRE2	ORPHA:2505
HP:0004322	Short stature	1911	PHC1	OMIM:615414
HP:0004322	Short stature	1911	PHC1	ORPHA:2512
HP:0004322	Short stature	2917	GRM7	OMIM:618922
HP:0004322	Short stature	60	ACTB	ORPHA:79107
HP:0004322	Short stature	60	ACTB	OMIM:243310
HP:0004322	Short stature	8471	IRS4	OMIM:301035
HP:0004322	Short stature	25	ABL1	OMIM:617602
HP:0004322	Short stature	79415	CYBC1	OMIM:618935
HP:0004322	Short stature	29980	DONSON	OMIM:617604
HP:0004322	Short stature	9343	EFTUD2	ORPHA:79113
HP:0004322	Short stature	9343	EFTUD2	OMIM:610536
HP:0004322	Short stature	23476	BRD4	ORPHA:199
HP:0004322	Short stature	157680	VPS13B	ORPHA:193
HP:0004322	Short stature	157680	VPS13B	OMIM:216550
HP:0004322	Short stature	71	ACTG1	OMIM:614583
HP:0004322	Short stature	2517	FUCA1	OMIM:230000
HP:0004322	Short stature	9894	TELO2	ORPHA:488642
HP:0004322	Short stature	259266	ASPM	OMIM:608716
HP:0004322	Short stature	259266	ASPM	ORPHA:2512
HP:0004322	Short stature	23247	KATNIP	OMIM:616784
HP:0004322	Short stature	1804	DPP6	ORPHA:2514
HP:0004322	Short stature	1804	DPP6	OMIM:616311
HP:0004322	Short stature	8192	CLPP	OMIM:614129
HP:0004322	Short stature	85378	TUBGCP6	ORPHA:2518
HP:0004322	Short stature	85378	TUBGCP6	OMIM:251270
HP:0004322	Short stature	27229	TUBGCP4	ORPHA:2518
HP:0004322	Short stature	1146	CHRNG	ORPHA:2990
HP:0004322	Short stature	1146	CHRNG	OMIM:265000
HP:0004322	Short stature	9939	RBM8A	OMIM:274000
HP:0004322	Short stature	22931	RAB18	ORPHA:2510
HP:0004322	Short stature	5286	PIK3C2A	ORPHA:557003
HP:0004322	Short stature	5286	PIK3C2A	OMIM:618440
HP:0004322	Short stature	9276	COPB2	ORPHA:2512
HP:0004322	Short stature	11113	CIT	ORPHA:2512
HP:0004322	Short stature	11113	CIT	OMIM:617090
HP:0004322	Short stature	9928	KIF14	ORPHA:2512
HP:0004322	Short stature	9928	KIF14	OMIM:617914
HP:0004322	Short stature	284403	WDR62	ORPHA:2512
HP:0004322	Short stature	55262	TRAPPC14	ORPHA:2512
HP:0004322	Short stature	163786	SASS6	ORPHA:2512
HP:0004322	Short stature	29920	PYCR2	ORPHA:2512
HP:0004322	Short stature	84879	MFSD2A	ORPHA:2512
HP:0004322	Short stature	4176	MCM7	ORPHA:2512
HP:0004322	Short stature	29081	METTL5	ORPHA:2512
HP:0004322	Short stature	23310	NCAPD3	ORPHA:2512
HP:0004322	Short stature	23310	NCAPD3	OMIM:617984
HP:0004322	Short stature	23141	ANKLE2	ORPHA:2512
HP:0004322	Short stature	23141	ANKLE2	OMIM:616681
HP:0004322	Short stature	9662	CEP135	ORPHA:2512
HP:0004322	Short stature	1021	CDK6	ORPHA:2512
HP:0004322	Short stature	10892	MALT1	OMIM:615468
HP:0004322	Short stature	203068	TUBB	ORPHA:2505
HP:0004322	Short stature	10749	KIF1C	ORPHA:397946
HP:0004322	Short stature	104	ADARB1	OMIM:618862
HP:0004322	Short stature	83932	SPRTN	OMIM:616200
HP:0004322	Short stature	60684	TRAPPC11	OMIM:615356
HP:0004322	Short stature	60684	TRAPPC11	ORPHA:869
HP:0004322	Short stature	3703	STT3A	OMIM:619714
HP:0004322	Short stature	347733	TUBB2B	ORPHA:1766
HP:0004322	Short stature	51761	ATP8A2	ORPHA:1766
HP:0004322	Short stature	767	CA8	ORPHA:1766
HP:0004322	Short stature	3021	H3-3B	OMIM:619721
HP:0004322	Short stature	79639	TMEM53	OMIM:619727
HP:0004322	Short stature	84572	GNPTG	OMIM:252605
HP:0004322	Short stature	716	C1S	ORPHA:75392
HP:0004322	Short stature	715	C1R	ORPHA:75392
HP:0004322	Short stature	2590	GALNT2	OMIM:618885
HP:0004322	Short stature	170691	ADAMTS17	OMIM:613195
HP:0004322	Short stature	4853	NOTCH2	OMIM:102500
HP:0004322	Short stature	4853	NOTCH2	ORPHA:955
HP:0004322	Short stature	56172	ANKH	OMIM:123000
HP:0004322	Short stature	9581	PREPL	OMIM:616224
HP:0004322	Short stature	23761	PISD	OMIM:618889
HP:0004322	Short stature	5442	POLRMT	OMIM:619743
HP:0004322	Short stature	833	CARS1	OMIM:618891
HP:0004322	Short stature	55012	PPP2R3C	OMIM:618419
HP:0004322	Short stature	1789	DNMT3B	OMIM:242860
HP:0004322	Short stature	1789	DNMT3B	ORPHA:2268
HP:0004322	Short stature	89891	DYNC2I2	ORPHA:474
HP:0004322	Short stature	1947	EFNB1	OMIM:304110
HP:0004322	Short stature	339983	NAT8L	OMIM:614063
HP:0004322	Short stature	3572	IL6ST	OMIM:619750
HP:0004322	Short stature	8363	H4C11	OMIM:619759
HP:0004322	Short stature	54928	BPNT2	OMIM:614078
HP:0004322	Short stature	53335	BCL11A	OMIM:617101
HP:0004322	Short stature	9993	DGCR2	OMIM:192430
HP:0004322	Short stature	8220	ESS2	OMIM:192430
HP:0004322	Short stature	8214	DGCR6	OMIM:192430
HP:0004322	Short stature	54487	DGCR8	OMIM:192430
HP:0004322	Short stature	51651	PTRH2	OMIM:616263
HP:0004322	Short stature	23162	MAPK8IP3	OMIM:618443
HP:0004322	Short stature	249	ALPL	OMIM:241510
HP:0004322	Short stature	387733	IFITM5	OMIM:610967
HP:0004322	Short stature	26100	WIPI2	OMIM:618453
HP:0004322	Short stature	8295	TRRAP	OMIM:618454
HP:0004322	Short stature	5256	PHKA2	ORPHA:264580
HP:0004322	Short stature	5261	PHKG2	ORPHA:264580
HP:0004322	Short stature	6878	TAF6	OMIM:617126
HP:0004322	Short stature	5277	PIGA	OMIM:301072
HP:0004322	Short stature	2902	GRIN1	ORPHA:208447
HP:0004322	Short stature	6492	SIM1	ORPHA:369873
HP:0004322	Short stature	79879	CCDC134	OMIM:619795
HP:0004322	Short stature	54892	NCAPG2	OMIM:618460
HP:0004322	Short stature	6650	CAPN15	OMIM:619318
HP:0004322	Short stature	8675	STX16	ORPHA:94089
HP:0004322	Short stature	5631	PRPS1	ORPHA:423479
HP:0004322	Short stature	5631	PRPS1	OMIM:300661
HP:0004322	Short stature	6548	SLC9A1	OMIM:616291
HP:0004322	Short stature	221496	LEMD2	OMIM:619322
HP:0004322	Short stature	29998	BICRA	OMIM:619325
HP:0004322	Short stature	6651	SON	OMIM:617140
HP:0004322	Short stature	23586	RIGI	OMIM:616298
HP:0004322	Short stature	8882	ZPR1	OMIM:619321
HP:0004322	Short stature	55503	TRPV6	ORPHA:417
HP:0004322	Short stature	846	CASR	ORPHA:417
HP:0004322	Short stature	846	CASR	OMIM:601198
HP:0004322	Short stature	1725	DHPS	OMIM:618480
HP:0004322	Short stature	7476	WNT7A	OMIM:228930
HP:0004322	Short stature	2530	FUT8	OMIM:618005
HP:0004322	Short stature	54496	PRMT7	OMIM:617157
HP:0004322	Short stature	1108	CHD4	OMIM:617159
HP:0004322	Short stature	23389	MED13L	ORPHA:369891
HP:0004322	Short stature	1781	DYNC1I2	OMIM:618492
HP:0004322	Short stature	8091	HMGA2	ORPHA:94063
HP:0004322	Short stature	23592	LEMD3	ORPHA:94063
HP:0004322	Short stature	23592	LEMD3	ORPHA:1306
HP:0004322	Short stature	54681	P4HTM	OMIM:618493
HP:0004322	Short stature	79644	SRD5A3	OMIM:612713
HP:0004322	Short stature	5977	DPF2	OMIM:618027
HP:0004322	Short stature	29926	GMPPA	ORPHA:869
HP:0004322	Short stature	2077	ERF	OMIM:617180
HP:0004322	Short stature	51715	RAB23	OMIM:201000
HP:0004322	Short stature	226	ALDOA	OMIM:611881
HP:0004322	Short stature	6299	SALL1	ORPHA:857
HP:0004322	Short stature	51339	DACT1	ORPHA:857
HP:0004322	Short stature	5080	PAX6	ORPHA:893
HP:0004322	Short stature	627	BDNF	ORPHA:893
HP:0004322	Short stature	7490	WT1	ORPHA:893
HP:0004322	Short stature	1650	DDOST	ORPHA:300536
HP:0004322	Short stature	7390	UROS	OMIM:263700
HP:0004322	Short stature	142680	SLC34A3	ORPHA:157215
HP:0004322	Short stature	2332	FMR1	ORPHA:261483
HP:0004322	Short stature	23154	NCDN	OMIM:619373
HP:0004322	Short stature	5236	PGM1	OMIM:614921
HP:0004322	Short stature	11011	TLK2	OMIM:618050
HP:0004322	Short stature	161742	SPRED1	ORPHA:137605
HP:0004322	Short stature	5144	PDE4D	ORPHA:950
HP:0004322	Short stature	7421	VDR	ORPHA:93160
HP:0004322	Short stature	9131	AIFM1	OMIM:300232
HP:0004322	Short stature	347734	SLC35B2	OMIM:620269
HP:0004322	Short stature	345895	RSPH4A	OMIM:612649
HP:0004322	Short stature	23118	TAB2	ORPHA:228410
HP:0004322	Short stature	221421	RSPH9	OMIM:612650
HP:0004322	Short stature	2911	GRM1	OMIM:614831
HP:0004322	Short stature	64324	NSD1	ORPHA:228415
HP:0004322	Short stature	6926	TBX3	ORPHA:3138
HP:0004322	Short stature	3899	AFF3	OMIM:619297
HP:0004322	Short stature	10157	AASS	ORPHA:3124
HP:0004322	Short stature	10157	AASS	ORPHA:2203
HP:0004322	Short stature	5095	PCCA	OMIM:606054
HP:0004322	Short stature	5096	PCCB	OMIM:606054
HP:0004322	Short stature	3070	HELLS	ORPHA:2268
HP:0004322	Short stature	83879	CDCA7	ORPHA:2268
HP:0004322	Short stature	9841	ZBTB24	ORPHA:2268
HP:0004322	Short stature	649	BMP1	OMIM:614856
HP:0004322	Short stature	6804	STX1A	ORPHA:904
HP:0004322	Short stature	7461	CLIP2	ORPHA:904
HP:0004322	Short stature	84277	DNAJC30	ORPHA:904
HP:0004322	Short stature	8468	FKBP6	ORPHA:904
HP:0004322	Short stature	5982	RFC2	ORPHA:904
HP:0004322	Short stature	2969	GTF2I	ORPHA:904
HP:0004322	Short stature	3984	LIMK1	ORPHA:904
HP:0004322	Short stature	9569	GTF2IRD1	ORPHA:904
HP:0004322	Short stature	155382	VPS37D	ORPHA:904
HP:0004322	Short stature	155368	METTL27	ORPHA:904
HP:0004322	Short stature	114049	BUD23	ORPHA:904
HP:0004322	Short stature	7458	EIF4H	ORPHA:904
HP:0004322	Short stature	84163	GTF2IRD2	ORPHA:904
HP:0004322	Short stature	9275	BCL7B	ORPHA:904
HP:0004322	Short stature	26608	TBL2	ORPHA:904
HP:0004322	Short stature	653361	NCF1	ORPHA:904
HP:0004322	Short stature	135886	TMEM270	ORPHA:904
HP:0004322	Short stature	9031	BAZ1B	ORPHA:904
HP:0004322	Short stature	6329	SCN4A	ORPHA:99735
HP:0004322	Short stature	6628	SNRPB	ORPHA:1393
HP:0004322	Short stature	84634	KISS1R	OMIM:176400
HP:0004322	Short stature	9493	KIF23	ORPHA:98870
HP:0004322	Short stature	29127	RACGAP1	ORPHA:98870
HP:0004322	Short stature	23483	TGDS	ORPHA:1388
HP:0004322	Short stature	4313	MMP2	OMIM:259600
HP:0004322	Short stature	55081	IFT57	OMIM:617927
HP:0004322	Short stature	27152	INTU	OMIM:617926
HP:0004322	Short stature	7507	XPA	ORPHA:910
HP:0004322	Short stature	7508	XPC	ORPHA:910
HP:0004322	Short stature	1643	DDB2	ORPHA:910
HP:0004322	Short stature	9698	PUM1	OMIM:617931
HP:0004322	Short stature	4173	MCM4	OMIM:609981
HP:0004322	Short stature	7849	PAX8	ORPHA:95720
HP:0004322	Short stature	7849	PAX8	ORPHA:95713
HP:0004322	Short stature	7849	PAX8	ORPHA:95712
HP:0004322	Short stature	7253	TSHR	ORPHA:95720
HP:0004322	Short stature	7253	TSHR	ORPHA:95713
HP:0004322	Short stature	5172	SLC26A4	ORPHA:95720
HP:0004322	Short stature	5172	SLC26A4	ORPHA:95713
HP:0004322	Short stature	389827	MYMK	ORPHA:1358
HP:0004322	Short stature	101929726	MYMX	ORPHA:1358
HP:0004322	Short stature	8671	SLC4A4	OMIM:604278
HP:0004322	Short stature	1482	NKX2-5	ORPHA:95713
HP:0004322	Short stature	1482	NKX2-5	ORPHA:95712
HP:0004322	Short stature	2304	FOXE1	ORPHA:95713
HP:0004322	Short stature	54974	THG1L	OMIM:618800
HP:0004322	Short stature	1292	COL6A2	OMIM:255600
HP:0004322	Short stature	9056	SLC7A7	OMIM:222700
HP:0004322	Short stature	1729	DIAPH1	OMIM:616632
HP:0004322	Short stature	175	AGA	OMIM:208400
HP:0004322	Short stature	2239	GPC4	ORPHA:2662
HP:0004322	Short stature	116442	RAB39B	OMIM:300271
HP:0004322	Short stature	7874	USP7	ORPHA:500055
HP:0004322	Short stature	55325	UFSP2	OMIM:617974
HP:0004322	Short stature	8087	FXR1	OMIM:618822
HP:0004322	Short stature	5205	ATP8B1	OMIM:211600
HP:0004322	Short stature	285175	UNC80	ORPHA:371364
HP:0004322	Short stature	9918	NCAPD2	OMIM:617983
HP:0004322	Short stature	54870	QRICH1	OMIM:617982
HP:0004322	Short stature	3295	HSD17B4	OMIM:233400
HP:0004322	Short stature	2819	GPD1	OMIM:614480
HP:0004322	Short stature	51780	KDM3B	OMIM:618846
HP:0004322	Short stature	8815	BANF1	OMIM:614008
HP:0004322	Short stature	10312	TCIRG1	ORPHA:1782
HP:0004322	Short stature	9130	FAM50A	OMIM:300261
HP:0004322	Short stature	5307	PITX1	OMIM:119800
HP:0004322	Short stature	55651	NHP2	ORPHA:1775
HP:0004322	Short stature	55135	WRAP53	ORPHA:1775
HP:0004322	Short stature	4869	NPM1	ORPHA:1775
HP:0004322	Short stature	7012	TERC	ORPHA:1775
HP:0004322	Short stature	55505	NOP10	ORPHA:1775
HP:0004322	Short stature	6736	SRY	ORPHA:1772
HP:0004322	Short stature	85465	SELENOI	ORPHA:506353
HP:0004322	Short stature	91252	SLC39A13	ORPHA:157965
HP:0004322	Short stature	91252	SLC39A13	OMIM:612350
HP:0004322	Short stature	860	RUNX2	OMIM:119600
HP:0004322	Short stature	3239	HOXD13	OMIM:113300
HP:0004322	Short stature	9653	HS2ST1	OMIM:619194
HP:0004322	Short stature	4921	DDR2	OMIM:271665
HP:0004322	Short stature	23169	SLC35D1	ORPHA:3144
HP:0004322	Short stature	23169	SLC35D1	OMIM:269250
HP:0004322	Short stature	64175	P3H1	OMIM:610915
HP:0004322	Short stature	2121	EVC	OMIM:225500
HP:0004322	Short stature	132884	EVC2	OMIM:225500
HP:0004322	Short stature	11014	KDELR2	OMIM:619131
HP:0004322	Short stature	23184	MESD	OMIM:618644
HP:0004322	Short stature	5479	PPIB	OMIM:259440
HP:0004322	Short stature	406932	MIR140	OMIM:618618
HP:0004322	Short stature	57539	WDR35	OMIM:613610
HP:0004322	Short stature	57539	WDR35	ORPHA:1515
HP:0004322	Short stature	145173	B3GLCT	ORPHA:709
HP:0004322	Short stature	145173	B3GLCT	OMIM:261540
HP:0004322	Short stature	10586	MAB21L2	OMIM:615877
HP:0004322	Short stature	755	CFAP410	OMIM:602271
HP:0004322	Short stature	8540	AGPS	OMIM:600121
HP:0004322	Short stature	8200	GDF5	OMIM:228900
HP:0004322	Short stature	8443	GNPAT	OMIM:222765
HP:0004322	Short stature	8942	KYNU	OMIM:617661
HP:0004322	Short stature	114803	MYSM1	OMIM:618116
HP:0004322	Short stature	1717	DHCR7	ORPHA:818
HP:0004322	Short stature	176	ACAN	OMIM:612813
HP:0004322	Short stature	176	ACAN	ORPHA:171866
HP:0004322	Short stature	112752	IFT43	ORPHA:1515
HP:0004322	Short stature	112752	IFT43	OMIM:614099
HP:0004322	Short stature	51098	IFT52	ORPHA:1515
HP:0004322	Short stature	55764	IFT122	ORPHA:1515
HP:0004322	Short stature	55764	IFT122	OMIM:218330
HP:0004322	Short stature	57728	WDR19	ORPHA:1515
HP:0004322	Short stature	57728	WDR19	OMIM:614376
HP:0004322	Short stature	9382	COG1	OMIM:611209
HP:0004322	Short stature	9382	COG1	ORPHA:263508
HP:0004322	Short stature	9469	CHST3	ORPHA:263463
HP:0004322	Short stature	9469	CHST3	OMIM:143095
HP:0004322	Short stature	9469	CHST3	OMIM:245600
HP:0004322	Short stature	10082	GPC6	OMIM:258315
HP:0004322	Short stature	10082	GPC6	ORPHA:93329
HP:0004322	Short stature	90993	CREB3L1	OMIM:616229
HP:0004322	Short stature	79087	ALG12	OMIM:607143
HP:0004322	Short stature	372	ARCN1	OMIM:617164
HP:0004322	Short stature	10013	HDAC6	OMIM:300863
HP:0004322	Short stature	10013	HDAC6	ORPHA:163966
HP:0004322	Short stature	4297	KMT2A	ORPHA:319182
HP:0004322	Short stature	1301	COL11A1	OMIM:228520
HP:0004322	Short stature	1301	COL11A1	ORPHA:440354
HP:0004322	Short stature	2475	MTOR	OMIM:616638
HP:0004322	Short stature	3930	LBR	OMIM:618019
HP:0004322	Short stature	3930	LBR	OMIM:215140
HP:0004322	Short stature	3930	LBR	ORPHA:1426
HP:0004322	Short stature	4322	MMP13	OMIM:602111
HP:0004322	Short stature	5593	PRKG2	OMIM:619638
HP:0004322	Short stature	5593	PRKG2	OMIM:619636
HP:0004322	Short stature	91461	PKDCC	OMIM:618821
HP:0004322	Short stature	4796	TONSL	ORPHA:93357
HP:0004322	Short stature	4796	TONSL	OMIM:271510
HP:0004322	Short stature	145258	GSC	OMIM:602471
HP:0004322	Short stature	79796	ALG9	ORPHA:79328
HP:0004322	Short stature	9702	CEP57	OMIM:614114
HP:0004322	Short stature	23387	SIK3	OMIM:618162
HP:0004322	Short stature	153241	CEP120	OMIM:616300
HP:0004322	Short stature	10491	CRTAP	OMIM:610682
HP:0004322	Short stature	10682	EBP	OMIM:302960
HP:0004322	Short stature	1513	CTSK	ORPHA:763
HP:0004322	Short stature	26229	B3GAT3	OMIM:245600
HP:0004322	Short stature	6913	TBX15	OMIM:260660
HP:0004322	Short stature	9742	IFT140	OMIM:266920
HP:0004322	Short stature	81570	CLPB	OMIM:616271
HP:0004322	Short stature	57560	IFT80	OMIM:611263
HP:0004322	Short stature	25886	POC1A	OMIM:614813
HP:0004322	Short stature	871	SERPINH1	OMIM:613848
HP:0004322	Short stature	2879	GPX4	OMIM:250220
HP:0004322	Short stature	5566	PRKACA	ORPHA:289
HP:0004322	Short stature	5567	PRKACB	ORPHA:289
HP:0003502	Mild short stature	1795	DOCK3	OMIM:618292
HP:0003502	Mild short stature	5573	PRKAR1A	ORPHA:280651
HP:0003502	Mild short stature	5144	PDE4D	ORPHA:280651
HP:0003502	Mild short stature	5144	PDE4D	OMIM:614613
HP:0003502	Mild short stature	7703	PCGF2	OMIM:618371
HP:0003502	Mild short stature	6595	SMARCA2	OMIM:601358
HP:0003502	Mild short stature	1298	COL9A2	OMIM:600204
HP:0003502	Mild short stature	2245	FGD1	OMIM:305400
HP:0003502	Mild short stature	1277	COL1A1	OMIM:130060
HP:0003502	Mild short stature	50515	CHST11	OMIM:618167
HP:0003502	Mild short stature	1300	COL10A1	OMIM:156500
HP:0003502	Mild short stature	818	CAMK2G	OMIM:618522
HP:0003502	Mild short stature	3423	IDS	OMIM:309900
HP:0003502	Mild short stature	1311	COMP	OMIM:132400
HP:0003502	Mild short stature	1299	COL9A3	OMIM:600969
HP:0003502	Mild short stature	2121	EVC	OMIM:193530
HP:0003502	Mild short stature	2121	EVC	ORPHA:952
HP:0003502	Mild short stature	132884	EVC2	OMIM:193530
HP:0003502	Mild short stature	132884	EVC2	ORPHA:952
HP:0003502	Mild short stature	25914	RTTN	OMIM:614833
HP:0003502	Mild short stature	3930	LBR	OMIM:169400
HP:0003502	Mild short stature	3930	LBR	OMIM:618019
HP:0003502	Mild short stature	124583	CANT1	OMIM:617719
HP:0003502	Mild short stature	4148	MATN3	ORPHA:93311
HP:0003510	Severe short stature	2074	ERCC6	OMIM:133540
HP:0003510	Severe short stature	2074	ERCC6	OMIM:278800
HP:0003510	Severe short stature	51574	LARP7	OMIM:615071
HP:0003510	Severe short stature	286053	NSMCE2	OMIM:617253
HP:0003510	Severe short stature	1280	COL2A1	ORPHA:93316
HP:0003510	Severe short stature	1280	COL2A1	OMIM:184250
HP:0003510	Severe short stature	118429	ANTXR2	ORPHA:2176
HP:0003510	Severe short stature	55733	HHAT	OMIM:600092
HP:0003510	Severe short stature	55733	HHAT	ORPHA:1422
HP:0003510	Severe short stature	23363	OBSL1	OMIM:612921
HP:0003510	Severe short stature	59341	TRPV4	ORPHA:93314
HP:0003510	Severe short stature	59341	TRPV4	OMIM:156530
HP:0003510	Severe short stature	59341	TRPV4	OMIM:168400
HP:0003510	Severe short stature	59341	TRPV4	ORPHA:2635
HP:0003510	Severe short stature	64220	STRA6	OMIM:601186
HP:0003510	Severe short stature	2972	BRF1	ORPHA:444072
HP:0003510	Severe short stature	2317	FLNB	OMIM:112310
HP:0003510	Severe short stature	3313	HSPA9	OMIM:616854
HP:0003510	Severe short stature	10908	PNPLA6	OMIM:275400
HP:0003510	Severe short stature	150468	CKAP2L	ORPHA:3255
HP:0003510	Severe short stature	10683	DLL3	OMIM:277300
HP:0003510	Severe short stature	145873	MESP2	OMIM:277300
HP:0003510	Severe short stature	5476	CTSA	OMIM:256540
HP:0003510	Severe short stature	51360	MBTPS2	ORPHA:2273
HP:0003510	Severe short stature	51360	MBTPS2	OMIM:301014
HP:0003510	Severe short stature	23250	ATP11A	OMIM:619851
HP:0003510	Severe short stature	6777	STAT5B	OMIM:245590
HP:0003510	Severe short stature	55037	PTCD3	OMIM:619057
HP:0003510	Severe short stature	2058	EPRS1	OMIM:617951
HP:0003510	Severe short stature	64131	XYLT1	OMIM:615777
HP:0003510	Severe short stature	64131	XYLT1	ORPHA:1425
HP:0003510	Severe short stature	92344	GORAB	OMIM:231070
HP:0003510	Severe short stature	92344	GORAB	ORPHA:2078
HP:0003510	Severe short stature	2200	FBN1	ORPHA:969
HP:0003510	Severe short stature	2200	FBN1	OMIM:102370
HP:0003510	Severe short stature	4054	LTBP3	ORPHA:969
HP:0003510	Severe short stature	9719	ADAMTSL2	ORPHA:1901
HP:0003510	Severe short stature	9509	ADAMTS2	ORPHA:1901
HP:0003510	Severe short stature	157570	ESCO2	ORPHA:2319
HP:0003510	Severe short stature	5191	PEX7	OMIM:215100
HP:0003510	Severe short stature	81620	CDT1	ORPHA:2554
HP:0003510	Severe short stature	5000	ORC4	ORPHA:2554
HP:0003510	Severe short stature	23594	ORC6	ORPHA:2554
HP:0003510	Severe short stature	8318	CDC45	ORPHA:2554
HP:0003510	Severe short stature	990	CDC6	ORPHA:2554
HP:0003510	Severe short stature	4998	ORC1	ORPHA:2554
HP:0003510	Severe short stature	51053	GMNN	ORPHA:2554
HP:0003510	Severe short stature	51053	GMNN	OMIM:616835
HP:0003510	Severe short stature	3339	HSPG2	ORPHA:1865
HP:0003510	Severe short stature	3339	HSPG2	OMIM:224410
HP:0003510	Severe short stature	54539	NDUFB11	ORPHA:2556
HP:0003510	Severe short stature	1349	COX7B	ORPHA:2556
HP:0003510	Severe short stature	3052	HCCS	ORPHA:2556
HP:0003510	Severe short stature	9401	RECQL4	OMIM:218600
HP:0003510	Severe short stature	2688	GH1	OMIM:262400
HP:0003510	Severe short stature	2688	GH1	OMIM:173100
HP:0003510	Severe short stature	26175	LYSET	OMIM:619345
HP:0003510	Severe short stature	1311	COMP	OMIM:132400
HP:0003510	Severe short stature	51199	NIN	OMIM:614851
HP:0003510	Severe short stature	6023	RMRP	OMIM:607095
HP:0003510	Severe short stature	9419	CRIPT	OMIM:615789
HP:0003510	Severe short stature	139285	AMER1	ORPHA:2780
HP:0003510	Severe short stature	64374	SIL1	ORPHA:559
HP:0003510	Severe short stature	51763	INPP5K	ORPHA:559
HP:0003510	Severe short stature	6911	TBX6	OMIM:122600
HP:0003510	Severe short stature	6911	TBX6	ORPHA:1797
HP:0003510	Severe short stature	57167	SALL4	ORPHA:2307
HP:0003510	Severe short stature	6885	MAP3K7	ORPHA:3238
HP:0003510	Severe short stature	2261	FGFR3	OMIM:616482
HP:0003510	Severe short stature	1857	DVL3	ORPHA:3107
HP:0003510	Severe short stature	7474	WNT5A	ORPHA:3107
HP:0003510	Severe short stature	1855	DVL1	ORPHA:3107
HP:0003510	Severe short stature	2535	FZD2	ORPHA:3107
HP:0003510	Severe short stature	9791	PTDSS1	ORPHA:2658
HP:0003510	Severe short stature	80152	CENPT	OMIM:618702
HP:0003510	Severe short stature	65992	DDRGK1	ORPHA:93352
HP:0003510	Severe short stature	25914	RTTN	ORPHA:468631
HP:0003510	Severe short stature	6595	SMARCA2	ORPHA:3051
HP:0003510	Severe short stature	1718	DHCR24	ORPHA:35107
HP:0003510	Severe short stature	2692	GHRHR	OMIM:618157
HP:0003510	Severe short stature	2690	GHR	OMIM:262500
HP:0003510	Severe short stature	2690	GHR	ORPHA:633
HP:0003510	Severe short stature	5130	PCYT1A	ORPHA:85167
HP:0003510	Severe short stature	2260	FGFR1	ORPHA:2645
HP:0003510	Severe short stature	2260	FGFR1	OMIM:166250
HP:0003510	Severe short stature	3832	KIF11	ORPHA:2526
HP:0003510	Severe short stature	124583	CANT1	OMIM:251450
HP:0003510	Severe short stature	124583	CANT1	ORPHA:1425
HP:0003510	Severe short stature	126792	B3GALT6	OMIM:271640
HP:0003510	Severe short stature	5295	PIK3R1	ORPHA:3163
HP:0003510	Severe short stature	5745	PTH1R	OMIM:156400
HP:0003510	Severe short stature	3423	IDS	OMIM:309900
HP:0003510	Severe short stature	100151683	RNU4ATAC	ORPHA:2636
HP:0003510	Severe short stature	6389	SDHA	ORPHA:3208
HP:0003510	Severe short stature	6390	SDHB	ORPHA:3208
HP:0003510	Severe short stature	6392	SDHD	ORPHA:3208
HP:0003510	Severe short stature	644096	SDHAF1	ORPHA:3208
HP:0003510	Severe short stature	6137	RPL13	OMIM:618728
HP:0003510	Severe short stature	2720	GLB1	OMIM:230500
HP:0003510	Severe short stature	4052	LTBP1	ORPHA:90349
HP:0003510	Severe short stature	30008	EFEMP2	ORPHA:90349
HP:0003510	Severe short stature	10516	FBLN5	ORPHA:90349
HP:0003510	Severe short stature	55835	CENPJ	OMIM:613676
HP:0003510	Severe short stature	5831	PYCR1	ORPHA:2078
HP:0003510	Severe short stature	1788	DNMT3A	OMIM:618724
HP:0003510	Severe short stature	1836	SLC26A2	ORPHA:93298
HP:0003510	Severe short stature	63901	FAM111A	OMIM:127000
HP:0003510	Severe short stature	9321	TRIP11	ORPHA:93299
HP:0003510	Severe short stature	2072	ERCC4	OMIM:610965
HP:0003510	Severe short stature	23522	KAT6B	ORPHA:3047
HP:0003510	Severe short stature	166929	SGMS2	OMIM:126550
HP:0003510	Severe short stature	26123	TCTN3	ORPHA:2753
HP:0003510	Severe short stature	55790	CSGALNACT1	ORPHA:1425
HP:0003510	Severe short stature	6473	SHOX	ORPHA:2632
HP:0003510	Severe short stature	1749	DLX5	OMIM:220600
HP:0003510	Severe short stature	3636	INPPL1	ORPHA:2746
HP:0003510	Severe short stature	25871	NEPRO	OMIM:618853
HP:0003510	Severe short stature	5426	POLE	OMIM:618336
HP:0003510	Severe short stature	63895	PIEZO2	ORPHA:2461
HP:0003510	Severe short stature	3480	IGF1R	OMIM:270450
HP:0003510	Severe short stature	1278	COL1A2	ORPHA:1899
HP:0003510	Severe short stature	1277	COL1A1	ORPHA:1899
HP:0003510	Severe short stature	54808	DYM	ORPHA:239
HP:0003510	Severe short stature	4089	SMAD4	ORPHA:2588
HP:0008873	Disproportionate short-limb short stature	79848	CSPP1	ORPHA:397715
HP:0008873	Disproportionate short-limb short stature	9786	KIAA0586	ORPHA:397715
HP:0008873	Disproportionate short-limb short stature	2263	FGFR2	OMIM:101200
HP:0008873	Disproportionate short-limb short stature	171023	ASXL1	OMIM:605039
HP:0008873	Disproportionate short-limb short stature	6473	SHOX	ORPHA:2632
HP:0008873	Disproportionate short-limb short stature	9321	TRIP11	OMIM:184260
HP:0008873	Disproportionate short-limb short stature	1311	COMP	ORPHA:750
HP:0008873	Disproportionate short-limb short stature	1311	COMP	OMIM:177170
HP:0008873	Disproportionate short-limb short stature	1311	COMP	OMIM:132400
HP:0008873	Disproportionate short-limb short stature	9653	HS2ST1	OMIM:619194
HP:0008873	Disproportionate short-limb short stature	4921	DDR2	OMIM:271665
HP:0008873	Disproportionate short-limb short stature	65992	DDRGK1	OMIM:602557
HP:0008873	Disproportionate short-limb short stature	9851	KIAA0753	OMIM:619479
HP:0008873	Disproportionate short-limb short stature	658	BMPR1B	ORPHA:2098
HP:0008873	Disproportionate short-limb short stature	658	BMPR1B	OMIM:609441
HP:0008873	Disproportionate short-limb short stature	23169	SLC35D1	ORPHA:3144
HP:0008873	Disproportionate short-limb short stature	23169	SLC35D1	OMIM:269250
HP:0008873	Disproportionate short-limb short stature	1277	COL1A1	OMIM:259420
HP:0008873	Disproportionate short-limb short stature	1277	COL1A1	OMIM:166210
HP:0008873	Disproportionate short-limb short stature	1278	COL1A2	OMIM:259420
HP:0008873	Disproportionate short-limb short stature	1278	COL1A2	OMIM:166210
HP:0008873	Disproportionate short-limb short stature	4148	MATN3	OMIM:608728
HP:0008873	Disproportionate short-limb short stature	4148	MATN3	ORPHA:156728
HP:0008873	Disproportionate short-limb short stature	59341	TRPV4	OMIM:156530
HP:0008873	Disproportionate short-limb short stature	55112	DYNC2I1	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	79659	DYNC2H1	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	89891	DYNC2I2	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	249	ALPL	OMIM:241500
HP:0008873	Disproportionate short-limb short stature	6662	SOX9	OMIM:114290
HP:0008873	Disproportionate short-limb short stature	124583	CANT1	OMIM:251450
HP:0008873	Disproportionate short-limb short stature	124583	CANT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	64175	P3H1	OMIM:610915
HP:0008873	Disproportionate short-limb short stature	1300	COL10A1	ORPHA:174
HP:0008873	Disproportionate short-limb short stature	2121	EVC	OMIM:225500
HP:0008873	Disproportionate short-limb short stature	132884	EVC2	OMIM:225500
HP:0008873	Disproportionate short-limb short stature	3339	HSPG2	OMIM:224410
HP:0008873	Disproportionate short-limb short stature	11014	KDELR2	OMIM:619131
HP:0008873	Disproportionate short-limb short stature	23184	MESD	OMIM:618644
HP:0008873	Disproportionate short-limb short stature	5479	PPIB	OMIM:259440
HP:0008873	Disproportionate short-limb short stature	64359	NXN	ORPHA:1507
HP:0008873	Disproportionate short-limb short stature	4920	ROR2	ORPHA:1507
HP:0008873	Disproportionate short-limb short stature	64116	SLC39A8	ORPHA:468699
HP:0008873	Disproportionate short-limb short stature	64131	XYLT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	55790	CSGALNACT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	3549	IHH	OMIM:607778
HP:0008873	Disproportionate short-limb short stature	406932	MIR140	OMIM:618618
HP:0008873	Disproportionate short-limb short stature	5573	PRKAR1A	OMIM:101800
HP:0008873	Disproportionate short-limb short stature	286053	NSMCE2	ORPHA:436182
HP:0008873	Disproportionate short-limb short stature	7518	XRCC4	ORPHA:436182
HP:0008873	Disproportionate short-limb short stature	1718	DHCR24	OMIM:602398
HP:0008873	Disproportionate short-limb short stature	57539	WDR35	OMIM:613610
HP:0008873	Disproportionate short-limb short stature	57539	WDR35	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	145173	B3GLCT	ORPHA:709
HP:0008873	Disproportionate short-limb short stature	145173	B3GLCT	OMIM:261540
HP:0008873	Disproportionate short-limb short stature	10586	MAB21L2	OMIM:615877
HP:0008873	Disproportionate short-limb short stature	755	CFAP410	OMIM:602271
HP:0008873	Disproportionate short-limb short stature	1836	SLC26A2	ORPHA:56304
HP:0008873	Disproportionate short-limb short stature	1836	SLC26A2	ORPHA:93307
HP:0008873	Disproportionate short-limb short stature	8540	AGPS	OMIM:600121
HP:0008873	Disproportionate short-limb short stature	8200	GDF5	OMIM:228900
HP:0008873	Disproportionate short-limb short stature	8443	GNPAT	OMIM:222765
HP:0008873	Disproportionate short-limb short stature	2317	FLNB	ORPHA:1190
HP:0008873	Disproportionate short-limb short stature	2317	FLNB	OMIM:108721
HP:0008873	Disproportionate short-limb short stature	2317	FLNB	OMIM:108720
HP:0008873	Disproportionate short-limb short stature	8942	KYNU	OMIM:617661
HP:0008873	Disproportionate short-limb short stature	114803	MYSM1	OMIM:618116
HP:0008873	Disproportionate short-limb short stature	1717	DHCR7	ORPHA:818
HP:0008873	Disproportionate short-limb short stature	176	ACAN	OMIM:612813
HP:0008873	Disproportionate short-limb short stature	176	ACAN	ORPHA:171866
HP:0008873	Disproportionate short-limb short stature	112752	IFT43	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	112752	IFT43	OMIM:614099
HP:0008873	Disproportionate short-limb short stature	51098	IFT52	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	55764	IFT122	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	55764	IFT122	OMIM:218330
HP:0008873	Disproportionate short-limb short stature	57728	WDR19	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	57728	WDR19	OMIM:614376
HP:0008873	Disproportionate short-limb short stature	9382	COG1	OMIM:611209
HP:0008873	Disproportionate short-limb short stature	9382	COG1	ORPHA:263508
HP:0008873	Disproportionate short-limb short stature	6023	RMRP	ORPHA:175
HP:0008873	Disproportionate short-limb short stature	6023	RMRP	OMIM:607095
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	ORPHA:263463
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	OMIM:143095
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	OMIM:245600
HP:0008873	Disproportionate short-limb short stature	10082	GPC6	OMIM:258315
HP:0008873	Disproportionate short-limb short stature	10082	GPC6	ORPHA:93329
HP:0008873	Disproportionate short-limb short stature	90993	CREB3L1	OMIM:616229
HP:0008873	Disproportionate short-limb short stature	5191	PEX7	OMIM:215100
HP:0008873	Disproportionate short-limb short stature	79087	ALG12	OMIM:607143
HP:0008873	Disproportionate short-limb short stature	2261	FGFR3	ORPHA:15
HP:0008873	Disproportionate short-limb short stature	2261	FGFR3	OMIM:616482
HP:0008873	Disproportionate short-limb short stature	2261	FGFR3	OMIM:100800
HP:0008873	Disproportionate short-limb short stature	1280	COL2A1	OMIM:156550
HP:0008873	Disproportionate short-limb short stature	1280	COL2A1	OMIM:151210
HP:0008873	Disproportionate short-limb short stature	372	ARCN1	OMIM:617164
HP:0008873	Disproportionate short-limb short stature	10013	HDAC6	OMIM:300863
HP:0008873	Disproportionate short-limb short stature	10013	HDAC6	ORPHA:163966
HP:0008873	Disproportionate short-limb short stature	5745	PTH1R	ORPHA:50945
HP:0008873	Disproportionate short-limb short stature	4297	KMT2A	ORPHA:319182
HP:0008873	Disproportionate short-limb short stature	1301	COL11A1	OMIM:228520
HP:0008873	Disproportionate short-limb short stature	1301	COL11A1	ORPHA:440354
HP:0008873	Disproportionate short-limb short stature	2475	MTOR	OMIM:616638
HP:0008873	Disproportionate short-limb short stature	3930	LBR	OMIM:618019
HP:0008873	Disproportionate short-limb short stature	3930	LBR	OMIM:215140
HP:0008873	Disproportionate short-limb short stature	3930	LBR	ORPHA:1426
HP:0008873	Disproportionate short-limb short stature	4322	MMP13	OMIM:602111
HP:0008873	Disproportionate short-limb short stature	5593	PRKG2	OMIM:619638
HP:0008873	Disproportionate short-limb short stature	5593	PRKG2	OMIM:619636
HP:0008873	Disproportionate short-limb short stature	91461	PKDCC	OMIM:618821
HP:0008873	Disproportionate short-limb short stature	4796	TONSL	ORPHA:93357
HP:0008873	Disproportionate short-limb short stature	4796	TONSL	OMIM:271510
HP:0008873	Disproportionate short-limb short stature	145258	GSC	OMIM:602471
HP:0008873	Disproportionate short-limb short stature	51360	MBTPS2	OMIM:301014
HP:0008873	Disproportionate short-limb short stature	79796	ALG9	ORPHA:79328
HP:0008873	Disproportionate short-limb short stature	3636	INPPL1	OMIM:258480
HP:0008873	Disproportionate short-limb short stature	5130	PCYT1A	ORPHA:85167
HP:0008873	Disproportionate short-limb short stature	5130	PCYT1A	OMIM:608940
HP:0008873	Disproportionate short-limb short stature	9702	CEP57	OMIM:614114
HP:0008873	Disproportionate short-limb short stature	2260	FGFR1	ORPHA:2645
HP:0008873	Disproportionate short-limb short stature	2260	FGFR1	OMIM:166250
HP:0008873	Disproportionate short-limb short stature	23387	SIK3	OMIM:618162
HP:0008873	Disproportionate short-limb short stature	153241	CEP120	OMIM:616300
HP:0008873	Disproportionate short-limb short stature	10491	CRTAP	OMIM:610682
HP:0008873	Disproportionate short-limb short stature	7474	WNT5A	OMIM:180700
HP:0008873	Disproportionate short-limb short stature	1855	DVL1	OMIM:180700
HP:0008873	Disproportionate short-limb short stature	10682	EBP	OMIM:302960
HP:0008873	Disproportionate short-limb short stature	1513	CTSK	ORPHA:763
HP:0008873	Disproportionate short-limb short stature	26229	B3GAT3	OMIM:245600
HP:0008873	Disproportionate short-limb short stature	6913	TBX15	OMIM:260660
HP:0008873	Disproportionate short-limb short stature	9742	IFT140	OMIM:266920
HP:0008873	Disproportionate short-limb short stature	81570	CLPB	OMIM:616271
HP:0008873	Disproportionate short-limb short stature	2535	FZD2	ORPHA:93328
HP:0008873	Disproportionate short-limb short stature	57560	IFT80	OMIM:611263
HP:0008873	Disproportionate short-limb short stature	25886	POC1A	OMIM:614813
HP:0008873	Disproportionate short-limb short stature	871	SERPINH1	OMIM:613848
HP:0008873	Disproportionate short-limb short stature	54808	DYM	ORPHA:239
HP:0008873	Disproportionate short-limb short stature	2879	GPX4	OMIM:250220
HP:0008873	Disproportionate short-limb short stature	5566	PRKACA	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	5567	PRKACB	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	2735	GLI1	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	51626	DYNC2LI1	ORPHA:289
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	OMIM:187601
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	ORPHA:1860
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	OMIM:187600
HP:0001519	Disproportionate tall stature	4088	SMAD3	ORPHA:284984
HP:0001519	Disproportionate tall stature	4088	SMAD3	OMIM:613795
HP:0001519	Disproportionate tall stature	5979	RET	OMIM:162300
HP:0001519	Disproportionate tall stature	875	CBS	ORPHA:394
HP:0001519	Disproportionate tall stature	875	CBS	OMIM:236200
HP:0001519	Disproportionate tall stature	6611	SMS	ORPHA:3063
HP:0001519	Disproportionate tall stature	51114	ZDHHC9	OMIM:300799
HP:0001519	Disproportionate tall stature	51114	ZDHHC9	ORPHA:776
HP:0001519	Disproportionate tall stature	8925	HERC1	OMIM:617011
HP:0001519	Disproportionate tall stature	8925	HERC1	ORPHA:457359
HP:0001519	Disproportionate tall stature	5351	PLOD1	OMIM:225400
HP:0001519	Disproportionate tall stature	5351	PLOD1	ORPHA:1900
HP:0001519	Disproportionate tall stature	8076	MFAP5	OMIM:616166
HP:0001519	Disproportionate tall stature	84627	ZNF469	OMIM:229200
HP:0001519	Disproportionate tall stature	9968	MED12	OMIM:309520
HP:0001519	Disproportionate tall stature	9968	MED12	ORPHA:776
HP:0001519	Disproportionate tall stature	3248	HPGD	OMIM:259100
HP:0001519	Disproportionate tall stature	1280	COL2A1	OMIM:108300
HP:0001519	Disproportionate tall stature	5728	PTEN	ORPHA:744
HP:0001519	Disproportionate tall stature	207	AKT1	ORPHA:744
HP:0001519	Disproportionate tall stature	5447	POR	ORPHA:95699
HP:0001519	Disproportionate tall stature	4125	MAN2B1	ORPHA:309282
HP:0001519	Disproportionate tall stature	1278	COL1A2	ORPHA:230851
HP:0001519	Disproportionate tall stature	80816	ASXL3	OMIM:615485
HP:0001519	Disproportionate tall stature	80816	ASXL3	ORPHA:352577
HP:0001519	Disproportionate tall stature	1742	DLG4	OMIM:618793
HP:0001519	Disproportionate tall stature	2201	FBN2	OMIM:121050
HP:0001519	Disproportionate tall stature	2201	FBN2	ORPHA:115
HP:0001519	Disproportionate tall stature	65109	UPF3B	ORPHA:776
HP:0001519	Disproportionate tall stature	2200	FBN1	OMIM:154700
HP:0001519	Disproportionate tall stature	2200	FBN1	OMIM:604308
HP:0001519	Disproportionate tall stature	55033	FKBP14	ORPHA:300179
HP:0001519	Disproportionate tall stature	113189	CHST14	ORPHA:2953
HP:0001519	Disproportionate tall stature	29940	DSE	ORPHA:2953
HP:0001519	Disproportionate tall stature	4087	SMAD2	OMIM:619656
HP:0001519	Disproportionate tall stature	7048	TGFBR2	OMIM:610168
HP:0001519	Disproportionate tall stature	10815	CPLX1	ORPHA:280
HP:0001519	Disproportionate tall stature	54872	PIGG	ORPHA:280
HP:0001519	Disproportionate tall stature	7469	NELFA	ORPHA:280
HP:0001519	Disproportionate tall stature	1487	CTBP1	ORPHA:280
HP:0001519	Disproportionate tall stature	3954	LETM1	ORPHA:280
HP:0001519	Disproportionate tall stature	7468	NSD2	ORPHA:280
HP:0001519	Disproportionate tall stature	79576	NKAP	OMIM:301039
HP:0001519	Disproportionate tall stature	4015	LOX	OMIM:617168
HP:0001519	Disproportionate tall stature	79875	THSD4	OMIM:619825
HP:0001519	Disproportionate tall stature	523	ATP6V1A	OMIM:617403
HP:0001519	Disproportionate tall stature	23395	LARS2	OMIM:615300
HP:0001519	Disproportionate tall stature	529	ATP6V1E1	OMIM:617402
HP:0001519	Disproportionate tall stature	7046	TGFBR1	OMIM:609192
HP:0003514	Deficiency or absence of cytochrome b(-245)	1536	CYBB	OMIM:306400
HP:0003514	Deficiency or absence of cytochrome b(-245)	1535	CYBA	OMIM:233690
HP:0000098	Tall stature	6535	SLC6A8	OMIM:300352
HP:0000098	Tall stature	8925	HERC1	OMIM:617011
HP:0000098	Tall stature	595	CCND1	ORPHA:29073
HP:0000098	Tall stature	4158	MC2R	OMIM:202200
HP:0000098	Tall stature	4158	MC2R	ORPHA:361
HP:0000098	Tall stature	65109	UPF3B	OMIM:300676
HP:0000098	Tall stature	5351	PLOD1	OMIM:225400
HP:0000098	Tall stature	23512	SUZ12	OMIM:618786
HP:0000098	Tall stature	23512	SUZ12	ORPHA:3447
HP:0000098	Tall stature	23019	CNOT1	OMIM:619033
HP:0000098	Tall stature	26580	BSCL2	OMIM:269700
HP:0000098	Tall stature	57680	CHD8	OMIM:615032
HP:0000098	Tall stature	5048	PAFAH1B1	ORPHA:217385
HP:0000098	Tall stature	7531	YWHAE	ORPHA:217385
HP:0000098	Tall stature	79912	PYROXD1	OMIM:617258
HP:0000098	Tall stature	84282	RNF135	ORPHA:137634
HP:0000098	Tall stature	1788	DNMT3A	OMIM:615879
HP:0000098	Tall stature	9968	MED12	OMIM:309520
HP:0000098	Tall stature	5728	PTEN	ORPHA:109
HP:0000098	Tall stature	85358	SHANK3	OMIM:606232
HP:0000098	Tall stature	4784	NFIX	ORPHA:420179
HP:0000098	Tall stature	4784	NFIX	OMIM:602535
HP:0000098	Tall stature	6736	SRY	OMIM:400044
HP:0000098	Tall stature	6736	SRY	OMIM:400045
HP:0000098	Tall stature	64324	NSD1	ORPHA:821
HP:0000098	Tall stature	64324	NSD1	OMIM:117550
HP:0000098	Tall stature	64324	NSD1	ORPHA:3447
HP:0000098	Tall stature	29072	SETD2	ORPHA:821
HP:0000098	Tall stature	10297	APC2	ORPHA:821
HP:0000098	Tall stature	2737	GLI3	ORPHA:36
HP:0000098	Tall stature	374654	KIF7	ORPHA:36
HP:0000098	Tall stature	2099	ESR1	ORPHA:785
HP:0000098	Tall stature	715	C1R	OMIM:130080
HP:0000098	Tall stature	6942	TCF20	OMIM:618430
HP:0000098	Tall stature	473	RERE	OMIM:616975
HP:0000098	Tall stature	9158	FIBP	OMIM:617107
HP:0000098	Tall stature	2261	FGFR3	OMIM:610474
HP:0000098	Tall stature	4882	NPR2	OMIM:615923
HP:0000098	Tall stature	129563	DIS3L2	ORPHA:2849
HP:0000098	Tall stature	4221	MEN1	ORPHA:99725
HP:0000098	Tall stature	9049	AIP	ORPHA:99725
HP:0000098	Tall stature	9049	AIP	ORPHA:963
HP:0000098	Tall stature	22954	TRIM32	ORPHA:1878
HP:0000098	Tall stature	5573	PRKAR1A	ORPHA:1359
HP:0000098	Tall stature	50940	PDE11A	ORPHA:1359
HP:0000098	Tall stature	2239	GPC4	ORPHA:373
HP:0000098	Tall stature	2239	GPC4	OMIM:312870
HP:0000098	Tall stature	2719	GPC3	ORPHA:373
HP:0000098	Tall stature	2719	GPC3	OMIM:312870
HP:0000098	Tall stature	2200	FBN1	OMIM:154700
HP:0000098	Tall stature	2200	FBN1	OMIM:616914
HP:0000098	Tall stature	2200	FBN1	ORPHA:91387
HP:0000098	Tall stature	80204	FBXO11	OMIM:618089
HP:0000098	Tall stature	4160	MC4R	OMIM:618406
HP:0000098	Tall stature	6611	SMS	OMIM:309583
HP:0000098	Tall stature	51684	SUFU	OMIM:617757
HP:0000098	Tall stature	55109	AGGF1	ORPHA:90308
HP:0000098	Tall stature	875	CBS	OMIM:236200
HP:0000098	Tall stature	3973	LHCGR	ORPHA:3000
HP:0000098	Tall stature	83550	GPR101	ORPHA:963
HP:0000098	Tall stature	83550	GPR101	OMIM:300942
HP:0000098	Tall stature	2248	FGF3	ORPHA:90024
HP:0000098	Tall stature	10555	AGPAT2	OMIM:608594
HP:0000098	Tall stature	8726	EED	ORPHA:3447
HP:0000098	Tall stature	8726	EED	OMIM:617561
HP:0000098	Tall stature	2146	EZH2	ORPHA:3447
HP:0000098	Tall stature	5727	PTCH1	ORPHA:77301
HP:0000098	Tall stature	56246	MRAP	ORPHA:361
HP:0000098	Tall stature	6770	STAR	ORPHA:361
HP:0000098	Tall stature	23530	NNT	ORPHA:361
HP:0000098	Tall stature	10587	TXNRD2	ORPHA:361
HP:0000098	Tall stature	4038	LRP4	ORPHA:3152
HP:0000098	Tall stature	50964	SOST	ORPHA:3152
HP:0000098	Tall stature	5159	PDGFRB	OMIM:616592
HP:0000098	Tall stature	4883	NPR3	OMIM:619543
HP:0000098	Tall stature	18	ABAT	OMIM:613163
HP:0000098	Tall stature	7043	TGFB3	OMIM:615582
HP:0000098	Tall stature	7043	TGFB3	ORPHA:91387
HP:0000098	Tall stature	7046	TGFBR1	ORPHA:60030
HP:0000098	Tall stature	7046	TGFBR1	ORPHA:91387
HP:0000098	Tall stature	10526	IPO8	ORPHA:60030
HP:0000098	Tall stature	7048	TGFBR2	ORPHA:60030
HP:0000098	Tall stature	7048	TGFBR2	ORPHA:91387
HP:0000098	Tall stature	7042	TGFB2	OMIM:614816
HP:0000098	Tall stature	7042	TGFB2	ORPHA:91387
HP:0000098	Tall stature	9487	PIGL	ORPHA:3474
HP:0000098	Tall stature	367	AR	ORPHA:99429
HP:0000098	Tall stature	4629	MYH11	ORPHA:91387
HP:0000098	Tall stature	4015	LOX	ORPHA:91387
HP:0000098	Tall stature	4087	SMAD2	ORPHA:91387
HP:0000098	Tall stature	4088	SMAD3	ORPHA:91387
HP:0000098	Tall stature	4089	SMAD4	ORPHA:91387
HP:0000098	Tall stature	59	ACTA2	ORPHA:91387
HP:0000098	Tall stature	5592	PRKG1	ORPHA:91387
HP:0000098	Tall stature	2301	FOXE3	ORPHA:91387
HP:0000098	Tall stature	4144	MAT2A	ORPHA:91387
HP:0000098	Tall stature	23493	HEY2	ORPHA:91387
HP:0000098	Tall stature	8076	MFAP5	ORPHA:91387
HP:0000098	Tall stature	4638	MYLK	ORPHA:91387
HP:0000098	Tall stature	2006	ELN	ORPHA:91387
HP:0000098	Tall stature	1588	CYP19A1	ORPHA:91
HP:0000098	Tall stature	5979	RET	OMIM:162300
HP:0000098	Tall stature	51114	ZDHHC9	OMIM:300799
HP:0000098	Tall stature	51114	ZDHHC9	ORPHA:776
HP:0000098	Tall stature	84627	ZNF469	OMIM:229200
HP:0000098	Tall stature	3248	HPGD	OMIM:259100
HP:0000098	Tall stature	1280	COL2A1	OMIM:108300
HP:0000098	Tall stature	207	AKT1	ORPHA:744
HP:0000098	Tall stature	5447	POR	ORPHA:95699
HP:0000098	Tall stature	4125	MAN2B1	ORPHA:309282
HP:0000098	Tall stature	1278	COL1A2	ORPHA:230851
HP:0000098	Tall stature	80816	ASXL3	OMIM:615485
HP:0000098	Tall stature	80816	ASXL3	ORPHA:352577
HP:0000098	Tall stature	1742	DLG4	OMIM:618793
HP:0000098	Tall stature	2201	FBN2	OMIM:121050
HP:0000098	Tall stature	2201	FBN2	ORPHA:115
HP:0000098	Tall stature	55033	FKBP14	ORPHA:300179
HP:0000098	Tall stature	113189	CHST14	ORPHA:2953
HP:0000098	Tall stature	29940	DSE	ORPHA:2953
HP:0000098	Tall stature	10815	CPLX1	ORPHA:280
HP:0000098	Tall stature	54872	PIGG	ORPHA:280
HP:0000098	Tall stature	7469	NELFA	ORPHA:280
HP:0000098	Tall stature	1487	CTBP1	ORPHA:280
HP:0000098	Tall stature	3954	LETM1	ORPHA:280
HP:0000098	Tall stature	7468	NSD2	ORPHA:280
HP:0000098	Tall stature	79576	NKAP	OMIM:301039
HP:0000098	Tall stature	79875	THSD4	OMIM:619825
HP:0000098	Tall stature	523	ATP6V1A	OMIM:617403
HP:0000098	Tall stature	23395	LARS2	OMIM:615300
HP:0000098	Tall stature	529	ATP6V1E1	OMIM:617402
HP:0000098	Tall stature	4841	NONO	ORPHA:466791
HP:0000098	Tall stature	4841	NONO	OMIM:300967
HP:0000098	Tall stature	50814	NSDHL	OMIM:300831
HP:0000098	Tall stature	50814	NSDHL	ORPHA:251383
HP:0000098	Tall stature	2892	GRIA3	OMIM:300699
HP:0000098	Tall stature	2892	GRIA3	ORPHA:364028
HP:0000098	Tall stature	1291	COL6A1	OMIM:254090
HP:0000098	Tall stature	1292	COL6A2	OMIM:254090
HP:0000098	Tall stature	1293	COL6A3	OMIM:254090
HP:0000098	Tall stature	284058	KANSL1	ORPHA:363958
HP:0000098	Tall stature	284058	KANSL1	ORPHA:363965
HP:0000098	Tall stature	1763	DNA2	OMIM:615156
HP:0000098	Tall stature	1763	DNA2	ORPHA:352470
HP:0000098	Tall stature	7040	TGFB1	OMIM:131300
HP:0000098	Tall stature	7040	TGFB1	ORPHA:1328
HP:0000098	Tall stature	84665	MYPN	ORPHA:171439
HP:0000098	Tall stature	58	ACTA1	ORPHA:171439
HP:0000098	Tall stature	58	ACTA1	OMIM:161800
HP:0000098	Tall stature	7169	TPM2	ORPHA:171439
HP:0000098	Tall stature	390594	KBTBD13	ORPHA:171439
HP:0000098	Tall stature	4703	NEB	ORPHA:171439
HP:0000098	Tall stature	4703	NEB	OMIM:256030
HP:0000098	Tall stature	4703	NEB	ORPHA:399103
HP:0000098	Tall stature	10324	KLHL41	ORPHA:171439
HP:0000098	Tall stature	7170	TPM3	ORPHA:171439
HP:0000098	Tall stature	1890	TYMP	OMIM:603041
HP:0000098	Tall stature	5428	POLG	OMIM:603041
HP:0000098	Tall stature	5428	POLG	OMIM:613662
HP:0000098	Tall stature	10056	FARSB	OMIM:613658
HP:0000098	Tall stature	7486	WRN	ORPHA:902
HP:0000098	Tall stature	92335	STRADA	OMIM:611087
HP:0000098	Tall stature	23152	CIC	OMIM:617600
HP:0000098	Tall stature	6301	SARS1	OMIM:617709
HP:0000098	Tall stature	10382	TUBB4A	OMIM:128101
HP:0000098	Tall stature	92609	TIMM50	ORPHA:505216
HP:0000098	Tall stature	11128	POLR3A	ORPHA:3455
HP:0000098	Tall stature	5290	PIK3CA	OMIM:612918
HP:0000098	Tall stature	5290	PIK3CA	ORPHA:276280
HP:0000098	Tall stature	5290	PIK3CA	OMIM:602501
HP:0000098	Tall stature	388015	RTL1	ORPHA:254534
HP:0000098	Tall stature	388015	RTL1	ORPHA:96334
HP:0000098	Tall stature	8788	DLK1	ORPHA:254534
HP:0000098	Tall stature	8788	DLK1	ORPHA:96334
HP:0000098	Tall stature	55384	MEG3	ORPHA:254534
HP:0000098	Tall stature	55384	MEG3	ORPHA:96334
HP:0000098	Tall stature	3845	KRAS	OMIM:163200
HP:0000098	Tall stature	4893	NRAS	OMIM:163200
HP:0000098	Tall stature	3265	HRAS	OMIM:163200
HP:0000098	Tall stature	3265	HRAS	OMIM:218040
HP:0000098	Tall stature	3190	HNRNPK	ORPHA:453504
HP:0000098	Tall stature	3190	HNRNPK	ORPHA:352665
HP:0000098	Tall stature	23405	DICER1	OMIM:618272
HP:0000098	Tall stature	79813	EHMT1	ORPHA:261652
HP:0000098	Tall stature	58508	KMT2C	ORPHA:261652
HP:0000098	Tall stature	3021	H3-3B	OMIM:619721
HP:0000098	Tall stature	30008	EFEMP2	OMIM:614437
HP:0000098	Tall stature	5296	PIK3R2	OMIM:603387
HP:0000098	Tall stature	3339	HSPG2	OMIM:224410
HP:0000098	Tall stature	54757	FAM20A	OMIM:204690
HP:0000098	Tall stature	1028	CDKN1C	OMIM:130650
HP:0000098	Tall stature	10984	KCNQ1OT1	OMIM:130650
HP:0000098	Tall stature	3481	IGF2	OMIM:130650
HP:0000098	Tall stature	3784	KCNQ1	OMIM:130650
HP:0000098	Tall stature	815	CAMK2A	OMIM:617798
HP:0000098	Tall stature	23229	ARHGEF9	OMIM:300607
HP:0000098	Tall stature	10516	FBLN5	OMIM:219100
HP:0000098	Tall stature	5277	PIGA	OMIM:300868
HP:0000098	Tall stature	4534	MTM1	OMIM:310400
HP:0000098	Tall stature	1027	CDKN1B	ORPHA:652
HP:0000098	Tall stature	1026	CDKN1A	ORPHA:652
HP:0000098	Tall stature	1030	CDKN2B	ORPHA:652
HP:0000098	Tall stature	1031	CDKN2C	ORPHA:652
HP:0000098	Tall stature	4763	NF1	ORPHA:363700
HP:0000098	Tall stature	5468	PPARG	ORPHA:528
HP:0000098	Tall stature	284119	CAVIN1	ORPHA:528
HP:0000098	Tall stature	2353	FOS	ORPHA:528
HP:0000098	Tall stature	857	CAV1	ORPHA:528
HP:0003517	Birth length greater than 97th percentile	2719	GPC3	OMIM:312870
HP:0003517	Birth length greater than 97th percentile	2239	GPC4	OMIM:312870
HP:0003517	Birth length greater than 97th percentile	4534	MTM1	OMIM:310400
HP:0003517	Birth length greater than 97th percentile	23512	SUZ12	OMIM:618786
HP:0003517	Birth length greater than 97th percentile	5277	PIGA	OMIM:300868
HP:0008905	Rhizomelia	79848	CSPP1	ORPHA:397715
HP:0008905	Rhizomelia	9786	KIAA0586	ORPHA:397715
HP:0008905	Rhizomelia	2263	FGFR2	OMIM:101200
HP:0008905	Rhizomelia	171023	ASXL1	OMIM:605039
HP:0008905	Rhizomelia	6473	SHOX	ORPHA:2632
HP:0008905	Rhizomelia	1718	DHCR24	OMIM:602398
HP:0008905	Rhizomelia	57539	WDR35	OMIM:613610
HP:0008905	Rhizomelia	57539	WDR35	ORPHA:1515
HP:0008905	Rhizomelia	145173	B3GLCT	ORPHA:709
HP:0008905	Rhizomelia	145173	B3GLCT	OMIM:261540
HP:0008905	Rhizomelia	10586	MAB21L2	OMIM:615877
HP:0008905	Rhizomelia	755	CFAP410	OMIM:602271
HP:0008905	Rhizomelia	1836	SLC26A2	ORPHA:56304
HP:0008905	Rhizomelia	1836	SLC26A2	ORPHA:93307
HP:0008905	Rhizomelia	8540	AGPS	OMIM:600121
HP:0008905	Rhizomelia	8200	GDF5	OMIM:228900
HP:0008905	Rhizomelia	8443	GNPAT	OMIM:222765
HP:0008905	Rhizomelia	2317	FLNB	ORPHA:1190
HP:0008905	Rhizomelia	2317	FLNB	OMIM:108721
HP:0008905	Rhizomelia	2317	FLNB	OMIM:108720
HP:0008905	Rhizomelia	8942	KYNU	OMIM:617661
HP:0008905	Rhizomelia	114803	MYSM1	OMIM:618116
HP:0008905	Rhizomelia	1717	DHCR7	ORPHA:818
HP:0008905	Rhizomelia	176	ACAN	OMIM:612813
HP:0008905	Rhizomelia	176	ACAN	ORPHA:171866
HP:0008905	Rhizomelia	112752	IFT43	ORPHA:1515
HP:0008905	Rhizomelia	112752	IFT43	OMIM:614099
HP:0008905	Rhizomelia	51098	IFT52	ORPHA:1515
HP:0008905	Rhizomelia	55764	IFT122	ORPHA:1515
HP:0008905	Rhizomelia	55764	IFT122	OMIM:218330
HP:0008905	Rhizomelia	57728	WDR19	ORPHA:1515
HP:0008905	Rhizomelia	57728	WDR19	OMIM:614376
HP:0008905	Rhizomelia	9382	COG1	OMIM:611209
HP:0008905	Rhizomelia	9382	COG1	ORPHA:263508
HP:0008905	Rhizomelia	6023	RMRP	ORPHA:175
HP:0008905	Rhizomelia	6023	RMRP	OMIM:607095
HP:0008905	Rhizomelia	9469	CHST3	ORPHA:263463
HP:0008905	Rhizomelia	9469	CHST3	OMIM:143095
HP:0008905	Rhizomelia	9469	CHST3	OMIM:245600
HP:0008905	Rhizomelia	10082	GPC6	OMIM:258315
HP:0008905	Rhizomelia	10082	GPC6	ORPHA:93329
HP:0008905	Rhizomelia	90993	CREB3L1	OMIM:616229
HP:0008905	Rhizomelia	5191	PEX7	OMIM:215100
HP:0008905	Rhizomelia	79087	ALG12	OMIM:607143
HP:0008905	Rhizomelia	2261	FGFR3	ORPHA:15
HP:0008905	Rhizomelia	2261	FGFR3	OMIM:616482
HP:0008905	Rhizomelia	2261	FGFR3	OMIM:100800
HP:0008905	Rhizomelia	1280	COL2A1	OMIM:156550
HP:0008905	Rhizomelia	1280	COL2A1	OMIM:151210
HP:0008905	Rhizomelia	372	ARCN1	OMIM:617164
HP:0008905	Rhizomelia	10013	HDAC6	OMIM:300863
HP:0008905	Rhizomelia	10013	HDAC6	ORPHA:163966
HP:0008905	Rhizomelia	5745	PTH1R	ORPHA:50945
HP:0008905	Rhizomelia	4297	KMT2A	ORPHA:319182
HP:0008905	Rhizomelia	1301	COL11A1	OMIM:228520
HP:0008905	Rhizomelia	1301	COL11A1	ORPHA:440354
HP:0008905	Rhizomelia	2475	MTOR	OMIM:616638
HP:0008905	Rhizomelia	3930	LBR	OMIM:618019
HP:0008905	Rhizomelia	3930	LBR	OMIM:215140
HP:0008905	Rhizomelia	3930	LBR	ORPHA:1426
HP:0008905	Rhizomelia	4322	MMP13	OMIM:602111
HP:0008905	Rhizomelia	5593	PRKG2	OMIM:619638
HP:0008905	Rhizomelia	5593	PRKG2	OMIM:619636
HP:0008905	Rhizomelia	91461	PKDCC	OMIM:618821
HP:0008905	Rhizomelia	4796	TONSL	ORPHA:93357
HP:0008905	Rhizomelia	4796	TONSL	OMIM:271510
HP:0008905	Rhizomelia	145258	GSC	OMIM:602471
HP:0008905	Rhizomelia	51360	MBTPS2	OMIM:301014
HP:0008905	Rhizomelia	79796	ALG9	ORPHA:79328
HP:0008905	Rhizomelia	3636	INPPL1	OMIM:258480
HP:0008905	Rhizomelia	5130	PCYT1A	ORPHA:85167
HP:0008905	Rhizomelia	5130	PCYT1A	OMIM:608940
HP:0008905	Rhizomelia	9702	CEP57	OMIM:614114
HP:0008905	Rhizomelia	2260	FGFR1	ORPHA:2645
HP:0008905	Rhizomelia	2260	FGFR1	OMIM:166250
HP:0008905	Rhizomelia	23387	SIK3	OMIM:618162
HP:0008905	Rhizomelia	153241	CEP120	OMIM:616300
HP:0008905	Rhizomelia	10491	CRTAP	OMIM:610682
HP:0008905	Rhizomelia	7474	WNT5A	OMIM:180700
HP:0008905	Rhizomelia	1855	DVL1	OMIM:180700
HP:0008905	Rhizomelia	10682	EBP	OMIM:302960
HP:0008905	Rhizomelia	1513	CTSK	ORPHA:763
HP:0008905	Rhizomelia	26229	B3GAT3	OMIM:245600
HP:0008905	Rhizomelia	6913	TBX15	OMIM:260660
HP:0008905	Rhizomelia	9742	IFT140	OMIM:266920
HP:0008905	Rhizomelia	81570	CLPB	OMIM:616271
HP:0008905	Rhizomelia	2535	FZD2	ORPHA:93328
HP:0008905	Rhizomelia	57560	IFT80	OMIM:611263
HP:0008905	Rhizomelia	25886	POC1A	OMIM:614813
HP:0008905	Rhizomelia	871	SERPINH1	OMIM:613848
HP:0008905	Rhizomelia	54808	DYM	ORPHA:239
HP:0008905	Rhizomelia	2879	GPX4	OMIM:250220
HP:0008922	Childhood-onset short-trunk short stature	59341	TRPV4	OMIM:113500
HP:0011405	Childhood onset short-limb short stature	1311	COMP	OMIM:177170
HP:0011405	Childhood onset short-limb short stature	2261	FGFR3	ORPHA:429
HP:0003524	Decreased methionine synthase activity	4552	MTRR	OMIM:236270
HP:0003524	Decreased methionine synthase activity	55788	LMBRD1	OMIM:277380
HP:0003524	Decreased methionine synthase activity	5826	ABCD4	OMIM:614857
HP:0003524	Decreased methionine synthase activity	4548	MTR	OMIM:250940
HP:0003524	Decreased methionine synthase activity	27249	MMADHC	OMIM:277410
HP:0003524	Decreased methionine synthase activity	25974	MMACHC	OMIM:277400
HP:0003524	Decreased methionine synthase activity	5052	PRDX1	OMIM:277400
HP:0003236	Elevated circulating creatine kinase concentration	9015	TAF1A	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	5663	PSEN1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	6389	SDHA	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7112	TMPO	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	9464	HAND2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	OMIM:160500
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	OMIM:255160
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	ORPHA:437572
HP:0003236	Elevated circulating creatine kinase concentration	88	ACTN2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	88	ACTN2	OMIM:618655
HP:0003236	Elevated circulating creatine kinase concentration	10486	CAP2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	10060	ABCC9	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7168	TPM1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7414	VCL	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1832	DSP	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	70	ACTC1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	27063	ANKRD1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	8048	CSRP3	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:608810
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:615184
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:613869
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:181350
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:613205
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	ORPHA:98855
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:616516
HP:0003236	Elevated circulating creatine kinase concentration	7139	TNNT2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1829	DSG2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	3910	LAMA4	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	63976	PRDM16	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:608807
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:603689
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:611705
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	ORPHA:178464
HP:0003236	Elevated circulating creatine kinase concentration	10587	TXNRD2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	9531	BAG3	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	9531	BAG3	OMIM:612954
HP:0003236	Elevated circulating creatine kinase concentration	5350	PLN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	91624	NEXN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	79717	PPCS	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	5664	PSEN2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	4624	MYH6	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	9529	BAG5	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	4607	MYBPC3	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	282996	RBM20	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7137	TNNI3	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	11155	LDB3	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	11155	LDB3	OMIM:609452
HP:0003236	Elevated circulating creatine kinase concentration	2274	FHL2	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	6901	TAFAZZIN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	22845	DOLK	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	5894	RAF1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	OMIM:310200
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:98895
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:98896
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:206546
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	OMIM:300376
HP:0003236	Elevated circulating creatine kinase concentration	57798	GATAD1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	7134	TNNC1	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	84665	MYPN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1674	DES	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	1674	DES	OMIM:604765
HP:0003236	Elevated circulating creatine kinase concentration	6444	SGCD	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	6444	SGCD	OMIM:601287
HP:0003236	Elevated circulating creatine kinase concentration	6444	SGCD	OMIM:606685
HP:0003236	Elevated circulating creatine kinase concentration	6331	SCN5A	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:611615
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:253800
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:611588
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:613152
HP:0003236	Elevated circulating creatine kinase concentration	8557	TCAP	ORPHA:154
HP:0003236	Elevated circulating creatine kinase concentration	8557	TCAP	OMIM:601954
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615350
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615351
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615352
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:363623
HP:0003236	Elevated circulating creatine kinase concentration	3094	HINT1	ORPHA:324442
HP:0003236	Elevated circulating creatine kinase concentration	3094	HINT1	OMIM:137200
HP:0003236	Elevated circulating creatine kinase concentration	8106	PABPN1	ORPHA:270
HP:0003236	Elevated circulating creatine kinase concentration	8106	PABPN1	OMIM:164300
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:616687
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:167320
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	ORPHA:435387
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:613954
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	60684	TRAPPC11	OMIM:615356
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	OMIM:616209
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	OMIM:615048
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	ORPHA:276435
HP:0003236	Elevated circulating creatine kinase concentration	5361	PLXNA1	OMIM:619955
HP:0003236	Elevated circulating creatine kinase concentration	55733	HHAT	OMIM:600092
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:253601
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	ORPHA:268
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:254130
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:606768
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	OMIM:253600
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	ORPHA:267
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	OMIM:618129
HP:0003236	Elevated circulating creatine kinase concentration	22947	DUX4L1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	1789	DNMT3B	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	2483	FRG1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	2483	FRG1	OMIM:158900
HP:0003236	Elevated circulating creatine kinase concentration	23347	SMCHD1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	100288687	DUX4	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	ORPHA:266
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	OMIM:609200
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	ORPHA:98911
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	ORPHA:254361
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	OMIM:613723
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	ORPHA:158684
HP:0003236	Elevated circulating creatine kinase concentration	3074	HEXB	ORPHA:309169
HP:0003236	Elevated circulating creatine kinase concentration	1785	DNM2	OMIM:615368
HP:0003236	Elevated circulating creatine kinase concentration	84466	MEGF10	OMIM:614399
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	OMIM:615249
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	OMIM:616094
HP:0003236	Elevated circulating creatine kinase concentration	22954	TRIM32	ORPHA:1878
HP:0003236	Elevated circulating creatine kinase concentration	22954	TRIM32	OMIM:254110
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:606612
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:34515
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:607155
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:613153
HP:0003236	Elevated circulating creatine kinase concentration	55154	MSTO1	OMIM:617675
HP:0003236	Elevated circulating creatine kinase concentration	311	ANXA11	OMIM:619733
HP:0003236	Elevated circulating creatine kinase concentration	29958	DMGDH	ORPHA:243343
HP:0003236	Elevated circulating creatine kinase concentration	29958	DMGDH	OMIM:605850
HP:0003236	Elevated circulating creatine kinase concentration	6445	SGCG	OMIM:253700
HP:0003236	Elevated circulating creatine kinase concentration	6445	SGCG	ORPHA:353
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	ORPHA:280333
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	ORPHA:370997
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	OMIM:613818
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	OMIM:616538
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	OMIM:616471
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	7386	UQCRFS1	OMIM:618775
HP:0003236	Elevated circulating creatine kinase concentration	5442	POLRMT	OMIM:619743
HP:0003236	Elevated circulating creatine kinase concentration	83636	C19orf12	OMIM:614298
HP:0003236	Elevated circulating creatine kinase concentration	5224	PGAM2	OMIM:261670
HP:0003236	Elevated circulating creatine kinase concentration	844	CASQ1	OMIM:616231
HP:0003236	Elevated circulating creatine kinase concentration	844	CASQ1	ORPHA:88635
HP:0003236	Elevated circulating creatine kinase concentration	246243	RNASEH1	OMIM:616479
HP:0003236	Elevated circulating creatine kinase concentration	54840	APTX	OMIM:208920
HP:0003236	Elevated circulating creatine kinase concentration	79731	NARS2	OMIM:616239
HP:0003236	Elevated circulating creatine kinase concentration	284439	SLC25A42	OMIM:618416
HP:0003236	Elevated circulating creatine kinase concentration	4359	MPZ	ORPHA:101082
HP:0003236	Elevated circulating creatine kinase concentration	59341	TRPV4	OMIM:600175
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:597
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	OMIM:619542
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:424107
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	OMIM:145600
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:466650
HP:0003236	Elevated circulating creatine kinase concentration	1763	DNA2	OMIM:615156
HP:0003236	Elevated circulating creatine kinase concentration	9453	GGPS1	OMIM:619518
HP:0003236	Elevated circulating creatine kinase concentration	148789	B3GALNT2	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	148789	B3GALNT2	OMIM:615181
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:608840
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:613154
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:206559
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613150
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613156
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613158
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:253280
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:613151
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:613157
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:609308
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:86812
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:613155
HP:0003236	Elevated circulating creatine kinase concentration	8818	DPM2	OMIM:615042
HP:0003236	Elevated circulating creatine kinase concentration	8818	DPM2	ORPHA:329178
HP:0003236	Elevated circulating creatine kinase concentration	11041	B4GAT1	OMIM:615287
HP:0003236	Elevated circulating creatine kinase concentration	56652	TWNK	OMIM:616138
HP:0003236	Elevated circulating creatine kinase concentration	56652	TWNK	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	10342	TFG	ORPHA:90117
HP:0003236	Elevated circulating creatine kinase concentration	10531	PITRM1	OMIM:619405
HP:0003236	Elevated circulating creatine kinase concentration	2683	B4GALT1	ORPHA:79332
HP:0003236	Elevated circulating creatine kinase concentration	2683	B4GALT1	OMIM:607091
HP:0003236	Elevated circulating creatine kinase concentration	91949	COG7	ORPHA:79333
HP:0003236	Elevated circulating creatine kinase concentration	91949	COG7	OMIM:608779
HP:0003236	Elevated circulating creatine kinase concentration	57104	PNPLA2	OMIM:610717
HP:0003236	Elevated circulating creatine kinase concentration	57104	PNPLA2	ORPHA:565612
HP:0003236	Elevated circulating creatine kinase concentration	57724	EPG5	OMIM:242840
HP:0003236	Elevated circulating creatine kinase concentration	23299	BICD2	OMIM:615290
HP:0003236	Elevated circulating creatine kinase concentration	339855	KY	OMIM:617114
HP:0003236	Elevated circulating creatine kinase concentration	56983	POGLUT1	OMIM:617232
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:123320
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	ORPHA:206599
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:606072
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:614321
HP:0003236	Elevated circulating creatine kinase concentration	5213	PFKM	OMIM:232800
HP:0003236	Elevated circulating creatine kinase concentration	3339	HSPG2	OMIM:255800
HP:0003236	Elevated circulating creatine kinase concentration	3339	HSPG2	ORPHA:800
HP:0003236	Elevated circulating creatine kinase concentration	8813	DPM1	ORPHA:79322
HP:0003236	Elevated circulating creatine kinase concentration	8813	DPM1	OMIM:608799
HP:0003236	Elevated circulating creatine kinase concentration	9526	MPDU1	ORPHA:79323
HP:0003236	Elevated circulating creatine kinase concentration	5837	PYGM	ORPHA:368
HP:0003236	Elevated circulating creatine kinase concentration	5837	PYGM	OMIM:232600
HP:0003236	Elevated circulating creatine kinase concentration	4633	MYL2	OMIM:619424
HP:0003236	Elevated circulating creatine kinase concentration	5256	PHKA2	ORPHA:264580
HP:0003236	Elevated circulating creatine kinase concentration	5261	PHKG2	ORPHA:264580
HP:0003236	Elevated circulating creatine kinase concentration	51693	TRAPPC2L	OMIM:618331
HP:0003236	Elevated circulating creatine kinase concentration	58497	PRUNE1	ORPHA:544469
HP:0003236	Elevated circulating creatine kinase concentration	6443	SGCB	ORPHA:119
HP:0003236	Elevated circulating creatine kinase concentration	6443	SGCB	OMIM:604286
HP:0003236	Elevated circulating creatine kinase concentration	389827	MYMK	OMIM:254940
HP:0003236	Elevated circulating creatine kinase concentration	8803	SUCLA2	ORPHA:1933
HP:0003236	Elevated circulating creatine kinase concentration	8803	SUCLA2	OMIM:612073
HP:0003236	Elevated circulating creatine kinase concentration	58	ACTA1	ORPHA:97240
HP:0003236	Elevated circulating creatine kinase concentration	58	ACTA1	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	291	SLC25A4	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	291	SLC25A4	OMIM:615418
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	OMIM:258450
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	ORPHA:254886
HP:0003236	Elevated circulating creatine kinase concentration	11232	POLG2	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	11232	POLG2	OMIM:610131
HP:0003236	Elevated circulating creatine kinase concentration	50484	RRM2B	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	353116	RILPL1	OMIM:619790
HP:0003236	Elevated circulating creatine kinase concentration	10020	GNE	OMIM:605820
HP:0003236	Elevated circulating creatine kinase concentration	23516	SLC39A14	OMIM:617013
HP:0003236	Elevated circulating creatine kinase concentration	160418	TMTC3	OMIM:617255
HP:0003236	Elevated circulating creatine kinase concentration	79912	PYROXD1	OMIM:617258
HP:0003236	Elevated circulating creatine kinase concentration	203547	VMA21	OMIM:310440
HP:0003236	Elevated circulating creatine kinase concentration	10102	TSFM	OMIM:610505
HP:0003236	Elevated circulating creatine kinase concentration	6442	SGCA	OMIM:608099
HP:0003236	Elevated circulating creatine kinase concentration	6442	SGCA	ORPHA:62
HP:0003236	Elevated circulating creatine kinase concentration	10049	DNAJB6	OMIM:603511
HP:0003236	Elevated circulating creatine kinase concentration	1120	CHKB	OMIM:602541
HP:0003236	Elevated circulating creatine kinase concentration	7555	CNBP	OMIM:602668
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	ORPHA:254886
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	OMIM:617069
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	OMIM:609560
HP:0003236	Elevated circulating creatine kinase concentration	3714	JAG2	OMIM:619566
HP:0003236	Elevated circulating creatine kinase concentration	729920	CRPPA	OMIM:616052
HP:0003236	Elevated circulating creatine kinase concentration	729920	CRPPA	OMIM:614643
HP:0003236	Elevated circulating creatine kinase concentration	92667	MGME1	OMIM:615084
HP:0003236	Elevated circulating creatine kinase concentration	92667	MGME1	ORPHA:352447
HP:0003236	Elevated circulating creatine kinase concentration	8867	SYNJ1	OMIM:617389
HP:0003236	Elevated circulating creatine kinase concentration	63895	PIEZO2	OMIM:617146
HP:0003236	Elevated circulating creatine kinase concentration	3939	LDHA	OMIM:612933
HP:0003236	Elevated circulating creatine kinase concentration	2027	ENO3	OMIM:612932
HP:0003236	Elevated circulating creatine kinase concentration	54344	DPM3	OMIM:612937
HP:0003236	Elevated circulating creatine kinase concentration	6904	TBCD	ORPHA:496641
HP:0003236	Elevated circulating creatine kinase concentration	6904	TBCD	OMIM:617193
HP:0003236	Elevated circulating creatine kinase concentration	427	ASAH1	OMIM:159950
HP:0003236	Elevated circulating creatine kinase concentration	8878	SQSTM1	OMIM:617158
HP:0003236	Elevated circulating creatine kinase concentration	513	ATP5F1D	OMIM:618120
HP:0003236	Elevated circulating creatine kinase concentration	2010	EMD	OMIM:310300
HP:0003236	Elevated circulating creatine kinase concentration	2010	EMD	ORPHA:98863
HP:0003236	Elevated circulating creatine kinase concentration	6821	SUOX	OMIM:272300
HP:0003236	Elevated circulating creatine kinase concentration	112812	FDX2	OMIM:251900
HP:0003236	Elevated circulating creatine kinase concentration	191	AHCY	ORPHA:88618
HP:0003236	Elevated circulating creatine kinase concentration	6329	SCN4A	ORPHA:682
HP:0003236	Elevated circulating creatine kinase concentration	6329	SCN4A	OMIM:608390
HP:0003236	Elevated circulating creatine kinase concentration	84892	POMGNT2	OMIM:618135
HP:0003236	Elevated circulating creatine kinase concentration	7317	UBA1	OMIM:301830
HP:0003236	Elevated circulating creatine kinase concentration	58472	SQOR	OMIM:619221
HP:0003236	Elevated circulating creatine kinase concentration	2992	GYG1	OMIM:616199
HP:0003236	Elevated circulating creatine kinase concentration	390594	KBTBD13	OMIM:609273
HP:0003236	Elevated circulating creatine kinase concentration	3908	LAMA2	OMIM:618138
HP:0003236	Elevated circulating creatine kinase concentration	3908	LAMA2	OMIM:607855
HP:0003236	Elevated circulating creatine kinase concentration	8398	PLA2G6	OMIM:612953
HP:0003236	Elevated circulating creatine kinase concentration	8425	LTBP4	ORPHA:98896
HP:0003236	Elevated circulating creatine kinase concentration	65260	COA7	OMIM:618387
HP:0003236	Elevated circulating creatine kinase concentration	51241	COX16	OMIM:619355
HP:0003236	Elevated circulating creatine kinase concentration	37	ACADVL	OMIM:201475
HP:0003236	Elevated circulating creatine kinase concentration	37	ACADVL	ORPHA:26793
HP:0003236	Elevated circulating creatine kinase concentration	55697	VAC14	OMIM:617054
HP:0003236	Elevated circulating creatine kinase concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0003236	Elevated circulating creatine kinase concentration	788	SLC25A20	OMIM:212138
HP:0003236	Elevated circulating creatine kinase concentration	7504	XK	OMIM:300842
HP:0003236	Elevated circulating creatine kinase concentration	23230	VPS13A	OMIM:200150
HP:0003236	Elevated circulating creatine kinase concentration	23230	VPS13A	ORPHA:2388
HP:0003236	Elevated circulating creatine kinase concentration	6786	STIM1	OMIM:185070
HP:0003236	Elevated circulating creatine kinase concentration	6786	STIM1	OMIM:160565
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300718
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300717
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300696
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300695
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	ORPHA:98863
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300280
HP:0003236	Elevated circulating creatine kinase concentration	226	ALDOA	OMIM:611881
HP:0003236	Elevated circulating creatine kinase concentration	3030	HADHA	OMIM:609015
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	OMIM:158810
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	OMIM:158810
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	OMIM:255600
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	OMIM:158810
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	26092	TOR1AIP1	OMIM:617072
HP:0003236	Elevated circulating creatine kinase concentration	1716	DGUOK	OMIM:617070
HP:0003236	Elevated circulating creatine kinase concentration	5236	PGM1	OMIM:614921
HP:0003236	Elevated circulating creatine kinase concentration	1282	COL4A1	OMIM:611773
HP:0003236	Elevated circulating creatine kinase concentration	1282	COL4A1	OMIM:175780
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228302
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228305
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228308
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	OMIM:600649
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	OMIM:608836
HP:0003236	Elevated circulating creatine kinase concentration	779	CACNA1S	OMIM:620246
HP:0003236	Elevated circulating creatine kinase concentration	2801	GOLGA2	OMIM:620240
HP:0003236	Elevated circulating creatine kinase concentration	9054	NFS1	OMIM:619386
HP:0003236	Elevated circulating creatine kinase concentration	125170	MIEF2	OMIM:619024
HP:0003236	Elevated circulating creatine kinase concentration	90523	MLIP	OMIM:620138
HP:0003236	Elevated circulating creatine kinase concentration	23224	SYNE2	OMIM:612999
HP:0003236	Elevated circulating creatine kinase concentration	23224	SYNE2	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	23345	SYNE1	OMIM:612998
HP:0003236	Elevated circulating creatine kinase concentration	23345	SYNE1	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	OMIM:611307
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	ORPHA:206549
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	OMIM:613319
HP:0003236	Elevated circulating creatine kinase concentration	9987	HNRNPDL	OMIM:609115
HP:0003236	Elevated circulating creatine kinase concentration	6584	SLC22A5	OMIM:212140
HP:0003236	Elevated circulating creatine kinase concentration	64374	SIL1	OMIM:248800
HP:0003236	Elevated circulating creatine kinase concentration	3691	ITGB4	ORPHA:158684
HP:0003236	Elevated circulating creatine kinase concentration	80308	FLAD1	OMIM:255100
HP:0003236	Elevated circulating creatine kinase concentration	9782	MATR3	OMIM:606070
HP:0003236	Elevated circulating creatine kinase concentration	6840	SVIL	OMIM:619040
HP:0003236	Elevated circulating creatine kinase concentration	7169	TPM2	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	4703	NEB	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	10324	KLHL41	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	56203	LMOD3	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	1073	CFL2	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	23600	AMACR	ORPHA:79095
HP:0003236	Elevated circulating creatine kinase concentration	2673	GFPT1	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	1798	DPAGT1	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	85365	ALG2	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	199857	ALG14	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	3736	KCNA1	ORPHA:972
HP:0003236	Elevated circulating creatine kinase concentration	3736	KCNA1	OMIM:160120
HP:0003236	Elevated circulating creatine kinase concentration	116228	COX20	OMIM:619054
HP:0003236	Elevated circulating creatine kinase concentration	100131801	PET100	OMIM:619055
HP:0003236	Elevated circulating creatine kinase concentration	55858	TMEM165	OMIM:614727
HP:0003236	Elevated circulating creatine kinase concentration	29967	LRP12	OMIM:164310
HP:0003236	Elevated circulating creatine kinase concentration	9570	GOSR2	OMIM:620166
HP:0003236	Elevated circulating creatine kinase concentration	9570	GOSR2	OMIM:614018
HP:0003236	Elevated circulating creatine kinase concentration	7156	TOP3A	OMIM:618098
HP:0003236	Elevated circulating creatine kinase concentration	9131	AIFM1	OMIM:310490
HP:0003236	Elevated circulating creatine kinase concentration	4598	MVK	OMIM:610377
HP:0003236	Elevated circulating creatine kinase concentration	374393	FAM111B	OMIM:615704
HP:0003236	Elevated circulating creatine kinase concentration	4952	OCRL	OMIM:300555
HP:0003236	Elevated circulating creatine kinase concentration	4952	OCRL	OMIM:309000
HP:0003236	Elevated circulating creatine kinase concentration	5255	PHKA1	OMIM:300559
HP:0003236	Elevated circulating creatine kinase concentration	3991	LIPE	ORPHA:435660
HP:0003236	Elevated circulating creatine kinase concentration	3991	LIPE	OMIM:615980
HP:0003236	Elevated circulating creatine kinase concentration	23533	PIK3R5	ORPHA:64753
HP:0003236	Elevated circulating creatine kinase concentration	23064	SETX	ORPHA:64753
HP:0003236	Elevated circulating creatine kinase concentration	23064	SETX	OMIM:606002
HP:0003236	Elevated circulating creatine kinase concentration	4744	NEFH	OMIM:616924
HP:0003236	Elevated circulating creatine kinase concentration	6804	STX1A	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	7461	CLIP2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	84277	DNAJC30	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	8468	FKBP6	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	5982	RFC2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	2969	GTF2I	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	3984	LIMK1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	9569	GTF2IRD1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	155382	VPS37D	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	155368	METTL27	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	114049	BUD23	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	7458	EIF4H	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	84163	GTF2IRD2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	9275	BCL7B	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	26608	TBL2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	653361	NCF1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	135886	TMEM270	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	51085	MLXIPL	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	9031	BAZ1B	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	2006	ELN	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	84992	PIGY	OMIM:616809
HP:0003236	Elevated circulating creatine kinase concentration	23175	LPIN1	OMIM:268200
HP:0003236	Elevated circulating creatine kinase concentration	6566	SLC16A1	OMIM:245340
HP:0003236	Elevated circulating creatine kinase concentration	2548	GAA	ORPHA:308552
HP:0003236	Elevated circulating creatine kinase concentration	2548	GAA	OMIM:232300
HP:0003236	Elevated circulating creatine kinase concentration	1299	COL9A3	OMIM:600969
HP:0003236	Elevated circulating creatine kinase concentration	5165	PDK3	ORPHA:352675
HP:0003236	Elevated circulating creatine kinase concentration	11149	BVES	OMIM:616812
HP:0003236	Elevated circulating creatine kinase concentration	3178	HNRNPA1	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	3178	HNRNPA1	OMIM:615424
HP:0003236	Elevated circulating creatine kinase concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	3181	HNRNPA2B1	OMIM:615422
HP:0003236	Elevated circulating creatine kinase concentration	34	ACADM	ORPHA:42
HP:0003236	Elevated circulating creatine kinase concentration	1374	CPT1A	OMIM:255120
HP:0003236	Elevated circulating creatine kinase concentration	84317	CCDC115	OMIM:616828
HP:0003236	Elevated circulating creatine kinase concentration	2318	FLNC	OMIM:609524
HP:0003236	Elevated circulating creatine kinase concentration	55679	LIMS2	OMIM:616827
HP:0003236	Elevated circulating creatine kinase concentration	23479	ISCU	OMIM:255125
HP:0003236	Elevated circulating creatine kinase concentration	3679	ITGA7	OMIM:613204
HP:0003236	Elevated circulating creatine kinase concentration	284119	CAVIN1	OMIM:613327
HP:0003236	Elevated circulating creatine kinase concentration	79188	TMEM43	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	132	ADK	OMIM:614300
HP:0003236	Elevated circulating creatine kinase concentration	79650	USB1	OMIM:604173
HP:0003236	Elevated circulating creatine kinase concentration	55593	OTUD5	OMIM:301056
HP:0003236	Elevated circulating creatine kinase concentration	84876	ORAI1	OMIM:615883
HP:0003236	Elevated circulating creatine kinase concentration	27235	COQ2	OMIM:607426
HP:0003236	Elevated circulating creatine kinase concentration	55033	FKBP14	ORPHA:300179
HP:0003236	Elevated circulating creatine kinase concentration	10616	RBCK1	OMIM:615895
HP:0003236	Elevated circulating creatine kinase concentration	708	C1QBP	OMIM:617713
HP:0003236	Elevated circulating creatine kinase concentration	5257	PHKB	ORPHA:79240
HP:0003236	Elevated circulating creatine kinase concentration	128989	TANGO2	ORPHA:480864
HP:0003236	Elevated circulating creatine kinase concentration	128989	TANGO2	OMIM:616878
HP:0003236	Elevated circulating creatine kinase concentration	84342	COG8	OMIM:611182
HP:0003236	Elevated circulating creatine kinase concentration	57511	COG6	OMIM:614576
HP:0003236	Elevated circulating creatine kinase concentration	64423	INF2	OMIM:614455
HP:0003236	Elevated circulating creatine kinase concentration	760	CA2	ORPHA:2785
HP:0003236	Elevated circulating creatine kinase concentration	10755	GIPC1	OMIM:618940
HP:0003236	Elevated circulating creatine kinase concentration	10367	MICU1	OMIM:615673
HP:0003236	Elevated circulating creatine kinase concentration	81689	ISCA1	OMIM:617613
HP:0003236	Elevated circulating creatine kinase concentration	55278	QRSL1	OMIM:618835
HP:0003236	Elevated circulating creatine kinase concentration	5188	GATB	OMIM:618838
HP:0003236	Elevated circulating creatine kinase concentration	283459	GATC	OMIM:618839
HP:0003236	Elevated circulating creatine kinase concentration	54888	NSUN2	OMIM:611091
HP:0003236	Elevated circulating creatine kinase concentration	3920	LAMP2	OMIM:300257
HP:0003236	Elevated circulating creatine kinase concentration	178	AGL	OMIM:232400
HP:0003236	Elevated circulating creatine kinase concentration	29928	TIMM22	OMIM:618851
HP:0003236	Elevated circulating creatine kinase concentration	4747	NEFL	OMIM:617882
HP:0003236	Elevated circulating creatine kinase concentration	9907	AP5Z1	ORPHA:306511
HP:0003236	Elevated circulating creatine kinase concentration	51763	INPP5K	OMIM:617404
HP:0003236	Elevated circulating creatine kinase concentration	8449	DHX16	OMIM:618733
HP:0003236	Elevated circulating creatine kinase concentration	367	AR	OMIM:313200
HP:0003236	Elevated circulating creatine kinase concentration	284217	LAMA1	ORPHA:370022
HP:0003236	Elevated circulating creatine kinase concentration	7072	TIA1	OMIM:604454
HP:0003236	Elevated circulating creatine kinase concentration	7072	TIA1	ORPHA:603
HP:0003236	Elevated circulating creatine kinase concentration	79784	MYH14	ORPHA:397744
HP:0003236	Elevated circulating creatine kinase concentration	79784	MYH14	OMIM:614369
HP:0003236	Elevated circulating creatine kinase concentration	100134444	KCNJ18	ORPHA:79102
HP:0003236	Elevated circulating creatine kinase concentration	2556	GABRA3	ORPHA:79102
HP:0003236	Elevated circulating creatine kinase concentration	274	BIN1	ORPHA:169189
HP:0003236	Elevated circulating creatine kinase concentration	64419	MTMR14	ORPHA:169189
HP:0003236	Elevated circulating creatine kinase concentration	64419	MTMR14	OMIM:160150
HP:0003236	Elevated circulating creatine kinase concentration	4618	MYF6	ORPHA:169189
HP:0003236	Elevated circulating creatine kinase concentration	4568	MT-TL2	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	4567	MT-TL1	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	4570	MT-TN	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	4574	MT-TS1	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	54870	QRICH1	OMIM:617982
HP:0003236	Elevated circulating creatine kinase concentration	10730	YME1L1	OMIM:617302
HP:0003236	Elevated circulating creatine kinase concentration	3033	HADH	ORPHA:71212
HP:0003236	Elevated circulating creatine kinase concentration	4358	MPV17	OMIM:618400
HP:0003236	Elevated circulating creatine kinase concentration	122622	ADSS1	OMIM:617030
HP:0003236	Elevated circulating creatine kinase concentration	57449	PLEKHG5	OMIM:615376
HP:0003236	Elevated circulating creatine kinase concentration	7170	TPM3	ORPHA:171439
HP:0003236	Elevated circulating creatine kinase concentration	55681	SCYL2	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	84570	COL25A1	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	57222	ERGIC1	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	5190	PEX6	ORPHA:95433
HP:0003236	Elevated circulating creatine kinase concentration	10008	KCNE3	ORPHA:681
HP:0003236	Elevated circulating creatine kinase concentration	4556	MT-TE	ORPHA:254864
HP:0003236	Elevated circulating creatine kinase concentration	55687	TRMU	ORPHA:254864
HP:0003236	Elevated circulating creatine kinase concentration	9325	TRIP4	ORPHA:486815
HP:0003236	Elevated circulating creatine kinase concentration	285489	DOK7	OMIM:254300
HP:0003236	Elevated circulating creatine kinase concentration	270	AMPD1	ORPHA:45
HP:0003236	Elevated circulating creatine kinase concentration	272	AMPD3	ORPHA:45
HP:0003236	Elevated circulating creatine kinase concentration	28976	ACAD9	ORPHA:99901
HP:0003236	Elevated circulating creatine kinase concentration	64208	POPDC3	OMIM:618848
HP:0003236	Elevated circulating creatine kinase concentration	4512	MT-CO1	ORPHA:99845
HP:0003236	Elevated circulating creatine kinase concentration	4514	MT-CO3	ORPHA:99845
HP:0003526	Orotic acid crystalluria	7372	UMPS	OMIM:258900
HP:0003526	Orotic acid crystalluria	7372	UMPS	ORPHA:30
HP:0003527	Hyperprostaglandinuria	6557	SLC12A1	OMIM:601678
HP:0003527	Hyperprostaglandinuria	7809	BSND	ORPHA:89938
HP:0003527	Hyperprostaglandinuria	1188	CLCNKB	ORPHA:89938
HP:0003527	Hyperprostaglandinuria	1187	CLCNKA	ORPHA:89938
HP:0003527	Hyperprostaglandinuria	3758	KCNJ1	OMIM:241200
HP:0003527	Hyperprostaglandinuria	6578	SLCO2A1	OMIM:167100
HP:0003528	Elevated calcitonin	5573	PRKAR1A	ORPHA:280651
HP:0003528	Elevated calcitonin	5573	PRKAR1A	OMIM:101800
HP:0003528	Elevated calcitonin	5144	PDE4D	ORPHA:280651
HP:0003528	Elevated calcitonin	5979	RET	OMIM:162300
HP:0003528	Elevated calcitonin	5979	RET	ORPHA:29072
HP:0003528	Elevated calcitonin	5979	RET	OMIM:171400
HP:0003528	Elevated calcitonin	4221	MEN1	ORPHA:652
HP:0003528	Elevated calcitonin	1027	CDKN1B	ORPHA:652
HP:0003528	Elevated calcitonin	1026	CDKN1A	ORPHA:652
HP:0003528	Elevated calcitonin	1030	CDKN2B	ORPHA:652
HP:0003528	Elevated calcitonin	1031	CDKN2C	ORPHA:652
HP:0003528	Elevated calcitonin	7428	VHL	ORPHA:29072
HP:0003528	Elevated calcitonin	1743	DLST	ORPHA:29072
HP:0003528	Elevated calcitonin	4191	MDH2	ORPHA:29072
HP:0003528	Elevated calcitonin	6389	SDHA	ORPHA:29072
HP:0003528	Elevated calcitonin	23095	KIF1B	ORPHA:29072
HP:0003528	Elevated calcitonin	2271	FH	ORPHA:29072
HP:0003528	Elevated calcitonin	8402	SLC25A11	ORPHA:29072
HP:0003528	Elevated calcitonin	54949	SDHAF2	ORPHA:29072
HP:0003528	Elevated calcitonin	55654	TMEM127	ORPHA:29072
HP:0003528	Elevated calcitonin	4763	NF1	ORPHA:29072
HP:0003528	Elevated calcitonin	6391	SDHC	ORPHA:29072
HP:0003528	Elevated calcitonin	6392	SDHD	ORPHA:29072
HP:0003528	Elevated calcitonin	6390	SDHB	ORPHA:29072
HP:0003528	Elevated calcitonin	4149	MAX	ORPHA:29072
HP:0003528	Elevated calcitonin	2778	GNAS	ORPHA:79443
HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	2767	GNA11	OMIM:145981
HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	1175	AP2S1	OMIM:600740
HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	55811	ADCY10	ORPHA:2197
HP:0003530	Elevated circulating glutaric acid concentration	79783	SUGCT	ORPHA:35706
HP:0003530	Elevated circulating glutaric acid concentration	131118	DNAJC19	ORPHA:66634
HP:0003530	Elevated circulating glutaric acid concentration	2108	ETFA	OMIM:231680
HP:0003530	Elevated circulating glutaric acid concentration	2109	ETFB	OMIM:231680
HP:0003530	Elevated circulating glutaric acid concentration	2110	ETFDH	OMIM:231680
HP:0003530	Elevated circulating glutaric acid concentration	2639	GCDH	OMIM:231670
HP:0003532	Ornithinuria	11136	SLC7A9	OMIM:220100
HP:0003532	Ornithinuria	6519	SLC3A1	OMIM:220100
HP:0003532	Ornithinuria	9056	SLC7A7	ORPHA:470
HP:0003533	Reduced acetaldehyde dehydrogenase level	217	ALDH2	OMIM:610251
HP:0003534	Reduced xanthine dehydrogenase level	7498	XDH	OMIM:278300
HP:0003534	Reduced xanthine dehydrogenase level	4337	MOCS1	OMIM:252150
HP:0003535	3-Methylglutaconic aciduria	55768	NGLY1	OMIM:615273
HP:0003535	3-Methylglutaconic aciduria	6389	SDHA	OMIM:619259
HP:0003535	3-Methylglutaconic aciduria	513	ATP5F1D	OMIM:618120
HP:0003535	3-Methylglutaconic aciduria	125988	MICOS13	OMIM:618329
HP:0003535	3-Methylglutaconic aciduria	125988	MICOS13	ORPHA:67047
HP:0003535	3-Methylglutaconic aciduria	92609	TIMM50	OMIM:617698
HP:0003535	3-Methylglutaconic aciduria	92609	TIMM50	ORPHA:505216
HP:0003535	3-Methylglutaconic aciduria	131118	DNAJC19	ORPHA:66634
HP:0003535	3-Methylglutaconic aciduria	131118	DNAJC19	OMIM:610198
HP:0003535	3-Methylglutaconic aciduria	81570	CLPB	OMIM:619835
HP:0003535	3-Methylglutaconic aciduria	81570	CLPB	OMIM:619813
HP:0003535	3-Methylglutaconic aciduria	81570	CLPB	ORPHA:445038
HP:0003535	3-Methylglutaconic aciduria	81570	CLPB	OMIM:616271
HP:0003535	3-Methylglutaconic aciduria	5428	POLG	OMIM:203700
HP:0003535	3-Methylglutaconic aciduria	3954	LETM1	OMIM:620089
HP:0003535	3-Methylglutaconic aciduria	549	AUH	OMIM:250950
HP:0003535	3-Methylglutaconic aciduria	549	AUH	ORPHA:67046
HP:0003535	3-Methylglutaconic aciduria	55750	AGK	OMIM:212350
HP:0003535	3-Methylglutaconic aciduria	91647	ATPAF2	OMIM:604273
HP:0003535	3-Methylglutaconic aciduria	55210	ATAD3A	ORPHA:496790
HP:0003535	3-Methylglutaconic aciduria	112812	FDX2	OMIM:251900
HP:0003535	3-Methylglutaconic aciduria	54968	TMEM70	OMIM:614052
HP:0003535	3-Methylglutaconic aciduria	54968	TMEM70	ORPHA:1194
HP:0003535	3-Methylglutaconic aciduria	80207	OPA3	ORPHA:67047
HP:0003535	3-Methylglutaconic aciduria	80207	OPA3	OMIM:258501
HP:0003535	3-Methylglutaconic aciduria	8802	SUCLG1	ORPHA:17
HP:0003535	3-Methylglutaconic aciduria	514	ATP5F1E	OMIM:614053
HP:0003535	3-Methylglutaconic aciduria	27429	HTRA2	OMIM:617248
HP:0003535	3-Methylglutaconic aciduria	498	ATP5F1A	OMIM:615228
HP:0003535	3-Methylglutaconic aciduria	6901	TAFAZZIN	OMIM:302060
HP:0003535	3-Methylglutaconic aciduria	84947	SERAC1	OMIM:614739
HP:0003536	Decreased fumarate hydratase activity	2271	FH	OMIM:606812
HP:0003536	Decreased fumarate hydratase activity	2271	FH	OMIM:150800
HP:0003537	Hypouricemia	4860	PNP	ORPHA:760
HP:0003537	Hypouricemia	4860	PNP	OMIM:613179
HP:0003537	Hypouricemia	116085	SLC22A12	OMIM:220150
HP:0003537	Hypouricemia	116085	SLC22A12	ORPHA:94088
HP:0003537	Hypouricemia	6514	SLC2A2	OMIM:227810
HP:0003537	Hypouricemia	56606	SLC2A9	OMIM:612076
HP:0003537	Hypouricemia	56606	SLC2A9	ORPHA:94088
HP:0003537	Hypouricemia	10243	GPHN	OMIM:615501
HP:0003537	Hypouricemia	4337	MOCS1	OMIM:252150
HP:0003537	Hypouricemia	3172	HNF4A	OMIM:616026
HP:0003537	Hypouricemia	4338	MOCS2	OMIM:252160
HP:0003537	Hypouricemia	5631	PRPS1	ORPHA:1187
HP:0003537	Hypouricemia	1497	CTNS	ORPHA:411634
HP:0003537	Hypouricemia	540	ATP7B	OMIM:277900
HP:0003537	Hypouricemia	55034	MOCOS	OMIM:603592
HP:0003537	Hypouricemia	1962	EHHADH	ORPHA:3337
HP:0003537	Hypouricemia	2628	GATM	ORPHA:3337
HP:0003537	Hypouricemia	137682	NDUFAF6	ORPHA:3337
HP:0003537	Hypouricemia	6569	SLC34A1	ORPHA:3337
HP:0003538	Increased iduronate sulfatase level	84572	GNPTG	OMIM:252605
HP:0003538	Increased iduronate sulfatase level	79158	GNPTAB	OMIM:252600
HP:0003538	Increased iduronate sulfatase level	79158	GNPTAB	OMIM:252500
HP:0004844	Coombs-positive hemolytic anemia	27040	LAT	OMIM:617514
HP:0004844	Coombs-positive hemolytic anemia	843	CASP10	OMIM:603909
HP:0004844	Coombs-positive hemolytic anemia	843	CASP10	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	355	FAS	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	355	FAS	OMIM:601859
HP:0004844	Coombs-positive hemolytic anemia	356	FASLG	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	356	FASLG	OMIM:601859
HP:0004844	Coombs-positive hemolytic anemia	5580	PRKCD	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	10125	RASGRP1	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	50943	FOXP3	OMIM:304790
HP:0004844	Coombs-positive hemolytic anemia	3162	HMOX1	OMIM:614034
HP:0004844	Coombs-positive hemolytic anemia	7293	TNFRSF4	OMIM:615593
HP:0004844	Coombs-positive hemolytic anemia	8651	SOCS1	OMIM:619375
HP:0003540	Impaired platelet aggregation	861	RUNX1	OMIM:601399
HP:0003540	Impaired platelet aggregation	4247	MGAT2	ORPHA:79329
HP:0003540	Impaired platelet aggregation	7450	VWF	OMIM:193400
HP:0003540	Impaired platelet aggregation	7450	VWF	OMIM:277480
HP:0003540	Impaired platelet aggregation	84343	HPS3	OMIM:614072
HP:0003540	Impaired platelet aggregation	388552	BLOC1S3	OMIM:614077
HP:0003540	Impaired platelet aggregation	5321	PLA2G4A	OMIM:618372
HP:0003540	Impaired platelet aggregation	3758	KCNJ1	OMIM:241200
HP:0003540	Impaired platelet aggregation	2623	GATA1	OMIM:300835
HP:0003540	Impaired platelet aggregation	2313	FLI1	OMIM:617443
HP:0003540	Impaired platelet aggregation	2048	EPHB2	OMIM:618462
HP:0003540	Impaired platelet aggregation	84062	DTNBP1	OMIM:614076
HP:0003540	Impaired platelet aggregation	81027	TUBB1	OMIM:613112
HP:0003540	Impaired platelet aggregation	1729	DIAPH1	OMIM:124900
HP:0003540	Impaired platelet aggregation	64241	ABCG8	OMIM:210250
HP:0003540	Impaired platelet aggregation	11234	HPS5	OMIM:614074
HP:0003540	Impaired platelet aggregation	87	ACTN1	OMIM:615193
HP:0003540	Impaired platelet aggregation	79803	HPS6	OMIM:614075
HP:0003540	Impaired platelet aggregation	64805	P2RY12	OMIM:609821
HP:0003540	Impaired platelet aggregation	8546	AP3B1	OMIM:608233
HP:0003540	Impaired platelet aggregation	5328	PLAU	OMIM:601709
HP:0003540	Impaired platelet aggregation	4627	MYH9	OMIM:155100
HP:0003540	Impaired platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0003540	Impaired platelet aggregation	63915	BLOC1S5	OMIM:619172
HP:0003540	Impaired platelet aggregation	10019	SH2B3	OMIM:187950
HP:0003540	Impaired platelet aggregation	811	CALR	OMIM:187950
HP:0003540	Impaired platelet aggregation	7066	THPO	OMIM:187950
HP:0003540	Impaired platelet aggregation	493856	CISD2	OMIM:604928
HP:0003540	Impaired platelet aggregation	3937	LCP2	OMIM:619374
HP:0003540	Impaired platelet aggregation	8328	GFI1B	OMIM:187900
HP:0003540	Impaired platelet aggregation	23218	NBEAL2	OMIM:139090
HP:0003540	Impaired platelet aggregation	3690	ITGB3	OMIM:619271
HP:0003540	Impaired platelet aggregation	3690	ITGB3	ORPHA:849
HP:0003540	Impaired platelet aggregation	64376	IKZF5	OMIM:619130
HP:0003540	Impaired platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0003540	Impaired platelet aggregation	2815	GP9	OMIM:231200
HP:0003540	Impaired platelet aggregation	2815	GP9	ORPHA:274
HP:0003540	Impaired platelet aggregation	2811	GP1BA	OMIM:231200
HP:0003540	Impaired platelet aggregation	2811	GP1BA	OMIM:153670
HP:0003540	Impaired platelet aggregation	2811	GP1BA	ORPHA:274
HP:0003540	Impaired platelet aggregation	2812	GP1BB	OMIM:231200
HP:0003540	Impaired platelet aggregation	2812	GP1BB	ORPHA:274
HP:0003540	Impaired platelet aggregation	51206	GP6	OMIM:614201
HP:0003540	Impaired platelet aggregation	6915	TBXA2R	OMIM:614009
HP:0003541	Urinary glycosaminoglycan excretion	6448	SGSH	OMIM:252900
HP:0003541	Urinary glycosaminoglycan excretion	138050	HGSNAT	OMIM:252930
HP:0003541	Urinary glycosaminoglycan excretion	4669	NAGLU	OMIM:252920
HP:0003541	Urinary glycosaminoglycan excretion	2799	GNS	OMIM:252940
HP:0003541	Urinary glycosaminoglycan excretion	2990	GUSB	OMIM:253220
HP:0003541	Urinary glycosaminoglycan excretion	65082	VPS33A	ORPHA:505248
HP:0003541	Urinary glycosaminoglycan excretion	3425	IDUA	OMIM:607014
HP:0003541	Urinary glycosaminoglycan excretion	2720	GLB1	ORPHA:79255
HP:0003541	Urinary glycosaminoglycan excretion	3423	IDS	OMIM:309900
HP:0003541	Urinary glycosaminoglycan excretion	285362	SUMF1	ORPHA:585
HP:0003541	Urinary glycosaminoglycan excretion	285362	SUMF1	OMIM:272200
HP:0003541	Urinary glycosaminoglycan excretion	84572	GNPTG	OMIM:252605
HP:0003541	Urinary glycosaminoglycan excretion	6023	RMRP	ORPHA:175
HP:0003541	Urinary glycosaminoglycan excretion	59341	TRPV4	OMIM:184095
HP:0003541	Urinary glycosaminoglycan excretion	5286	PIK3C2A	OMIM:618440
HP:0003541	Urinary glycosaminoglycan excretion	79158	GNPTAB	OMIM:252600
HP:0003541	Urinary glycosaminoglycan excretion	79158	GNPTAB	OMIM:252500
HP:0003541	Urinary glycosaminoglycan excretion	2517	FUCA1	ORPHA:349
HP:0003541	Urinary glycosaminoglycan excretion	153642	ARSK	OMIM:619698
HP:0003541	Urinary glycosaminoglycan excretion	411	ARSB	OMIM:253200
HP:0003541	Urinary glycosaminoglycan excretion	2588	GALNS	OMIM:253000
HP:0003541	Urinary glycosaminoglycan excretion	1280	COL2A1	ORPHA:485
HP:0003541	Urinary glycosaminoglycan excretion	55768	NGLY1	OMIM:615273
HP:0003542	Increased serum pyruvate	9131	AIFM1	ORPHA:238329
HP:0003542	Increased serum pyruvate	9131	AIFM1	OMIM:300816
HP:0003542	Increased serum pyruvate	9997	SCO2	OMIM:604377
HP:0003542	Increased serum pyruvate	1738	DLD	OMIM:246900
HP:0003542	Increased serum pyruvate	5091	PC	OMIM:266150
HP:0003542	Increased serum pyruvate	54539	NDUFB11	ORPHA:2609
HP:0003542	Increased serum pyruvate	25915	NDUFAF3	ORPHA:2609
HP:0003542	Increased serum pyruvate	51103	NDUFAF1	ORPHA:2609
HP:0003542	Increased serum pyruvate	91942	NDUFAF2	ORPHA:2609
HP:0003542	Increased serum pyruvate	51300	TIMMDC1	ORPHA:2609
HP:0003542	Increased serum pyruvate	4716	NDUFB10	ORPHA:2609
HP:0003542	Increased serum pyruvate	4723	NDUFV1	ORPHA:2609
HP:0003542	Increased serum pyruvate	4723	NDUFV1	OMIM:618225
HP:0003542	Increased serum pyruvate	55572	FOXRED1	ORPHA:2609
HP:0003542	Increased serum pyruvate	284184	NDUFAF8	ORPHA:2609
HP:0003542	Increased serum pyruvate	55863	TMEM126B	ORPHA:2609
HP:0003542	Increased serum pyruvate	4535	MT-ND1	ORPHA:2609
HP:0003542	Increased serum pyruvate	4537	MT-ND3	ORPHA:2609
HP:0003542	Increased serum pyruvate	4729	NDUFV2	ORPHA:2609
HP:0003542	Increased serum pyruvate	4694	NDUFA1	ORPHA:2609
HP:0003542	Increased serum pyruvate	4720	NDUFS2	ORPHA:2609
HP:0003542	Increased serum pyruvate	4724	NDUFS4	ORPHA:2609
HP:0003542	Increased serum pyruvate	4726	NDUFS6	ORPHA:2609
HP:0003542	Increased serum pyruvate	4728	NDUFS8	ORPHA:2609
HP:0003542	Increased serum pyruvate	4728	NDUFS8	OMIM:618222
HP:0003542	Increased serum pyruvate	4722	NDUFS3	ORPHA:2609
HP:0003542	Increased serum pyruvate	79133	NDUFAF5	ORPHA:2609
HP:0003542	Increased serum pyruvate	126328	NDUFA11	ORPHA:2609
HP:0003542	Increased serum pyruvate	4709	NDUFB3	ORPHA:2609
HP:0003542	Increased serum pyruvate	80224	NUBPL	ORPHA:2609
HP:0003542	Increased serum pyruvate	29078	NDUFAF4	ORPHA:2609
HP:0003542	Increased serum pyruvate	374291	NDUFS7	ORPHA:2609
HP:0003542	Increased serum pyruvate	4700	NDUFA6	ORPHA:2609
HP:0003542	Increased serum pyruvate	4536	MT-ND2	ORPHA:2609
HP:0003542	Increased serum pyruvate	4719	NDUFS1	ORPHA:2609
HP:0003542	Increased serum pyruvate	4715	NDUFB9	ORPHA:2609
HP:0003542	Increased serum pyruvate	51241	COX16	OMIM:619355
HP:0003542	Increased serum pyruvate	51660	MPC1	OMIM:614741
HP:0003542	Increased serum pyruvate	9361	LONP1	ORPHA:79243
HP:0003542	Increased serum pyruvate	5160	PDHA1	ORPHA:79243
HP:0003542	Increased serum pyruvate	5160	PDHA1	OMIM:312170
HP:0003542	Increased serum pyruvate	4566	MT-TK	ORPHA:1349
HP:0003542	Increased serum pyruvate	4566	MT-TK	OMIM:545000
HP:0003542	Increased serum pyruvate	5428	POLG	ORPHA:94125
HP:0003542	Increased serum pyruvate	1339	COX6A2	OMIM:619062
HP:0003542	Increased serum pyruvate	8050	PDHX	OMIM:245349
HP:0003542	Increased serum pyruvate	617	BCS1L	OMIM:603358
HP:0003542	Increased serum pyruvate	6390	SDHB	OMIM:619224
HP:0003542	Increased serum pyruvate	3735	KARS1	OMIM:619147
HP:0003542	Increased serum pyruvate	4558	MT-TF	OMIM:545000
HP:0003542	Increased serum pyruvate	4567	MT-TL1	OMIM:545000
HP:0003542	Increased serum pyruvate	4571	MT-TP	OMIM:545000
HP:0003542	Increased serum pyruvate	4565	MT-TI	OMIM:545000
HP:0003542	Increased serum pyruvate	7385	UQCRC2	OMIM:615160
HP:0003542	Increased serum pyruvate	39	ACAT2	OMIM:614055
HP:0003542	Increased serum pyruvate	115286	SLC25A26	OMIM:616794
HP:0003542	Increased serum pyruvate	1352	COX10	OMIM:619046
HP:0003542	Increased serum pyruvate	387787	LIPT2	OMIM:617668
HP:0003542	Increased serum pyruvate	56652	TWNK	OMIM:616138
HP:0003542	Increased serum pyruvate	10531	PITRM1	OMIM:619405
HP:0003542	Increased serum pyruvate	3939	LDHA	OMIM:612933
HP:0003542	Increased serum pyruvate	50640	PNPLA8	OMIM:251950
HP:0003542	Increased serum pyruvate	4204	MECP2	ORPHA:778
HP:0001946	Ketosis	291	SLC25A4	ORPHA:254892
HP:0001946	Ketosis	5428	POLG	ORPHA:254892
HP:0001946	Ketosis	56652	TWNK	ORPHA:254892
HP:0001946	Ketosis	11232	POLG2	ORPHA:254892
HP:0001946	Ketosis	50484	RRM2B	ORPHA:254892
HP:0001946	Ketosis	10128	LRPPRC	OMIM:220111
HP:0001946	Ketosis	34	ACADM	ORPHA:42
HP:0001946	Ketosis	6524	SLC5A2	ORPHA:69076
HP:0001946	Ketosis	2998	GYS2	OMIM:240600
HP:0001946	Ketosis	2998	GYS2	ORPHA:2089
HP:0001946	Ketosis	2203	FBP1	OMIM:229700
HP:0001946	Ketosis	2203	FBP1	ORPHA:348
HP:0001946	Ketosis	57128	LYRM4	OMIM:615595
HP:0001946	Ketosis	1629	DBT	OMIM:248600
HP:0001946	Ketosis	593	BCKDHA	OMIM:248600
HP:0001946	Ketosis	594	BCKDHB	OMIM:248600
HP:0001946	Ketosis	51728	POLR3K	OMIM:619310
HP:0001946	Ketosis	51099	ABHD5	ORPHA:98907
HP:0001946	Ketosis	23417	MLYCD	OMIM:248360
HP:0001946	Ketosis	5836	PYGL	ORPHA:369
HP:0001946	Ketosis	166785	MMAA	OMIM:251100
HP:0001946	Ketosis	3735	KARS1	OMIM:619147
HP:0001946	Ketosis	2693	GHSR	ORPHA:314811
HP:0001946	Ketosis	93587	TRMT10A	ORPHA:391408
HP:0001946	Ketosis	84919	PPP1R15B	ORPHA:391408
HP:0001946	Ketosis	326625	MMAB	OMIM:251110
HP:0001946	Ketosis	6584	SLC22A5	OMIM:212140
HP:0001946	Ketosis	8462	KLF11	ORPHA:552
HP:0001946	Ketosis	2645	GCK	ORPHA:552
HP:0001946	Ketosis	26060	APPL1	ORPHA:552
HP:0001946	Ketosis	640	BLK	ORPHA:552
HP:0001946	Ketosis	1056	CEL	ORPHA:552
HP:0001946	Ketosis	4760	NEUROD1	ORPHA:552
HP:0001946	Ketosis	3651	PDX1	ORPHA:552
HP:0001946	Ketosis	6833	ABCC8	ORPHA:552
HP:0001946	Ketosis	6833	ABCC8	ORPHA:99886
HP:0001946	Ketosis	3630	INS	ORPHA:552
HP:0001946	Ketosis	3630	INS	OMIM:618858
HP:0001946	Ketosis	3630	INS	OMIM:613370
HP:0001946	Ketosis	3643	INSR	OMIM:262190
HP:0001946	Ketosis	3643	INSR	ORPHA:769
HP:0001946	Ketosis	63924	CIDEC	OMIM:615238
HP:0001946	Ketosis	1188	CLCNKB	ORPHA:358
HP:0001946	Ketosis	6559	SLC12A3	ORPHA:358
HP:0001946	Ketosis	346171	ZFP57	ORPHA:99886
HP:0001946	Ketosis	57061	HYMAI	ORPHA:99886
HP:0001946	Ketosis	5325	PLAGL1	ORPHA:99886
HP:0001946	Ketosis	79783	SUGCT	ORPHA:35706
HP:0001946	Ketosis	3712	IVD	OMIM:243500
HP:0001946	Ketosis	197322	ACSF3	ORPHA:289504
HP:0001946	Ketosis	197322	ACSF3	OMIM:614265
HP:0001946	Ketosis	1738	DLD	OMIM:246900
HP:0001946	Ketosis	26191	PTPN22	OMIM:222100
HP:0001946	Ketosis	3710	ITPR3	OMIM:222100
HP:0001946	Ketosis	3569	IL6	OMIM:222100
HP:0001946	Ketosis	6927	HNF1A	OMIM:222100
HP:0001946	Ketosis	6566	SLC16A1	OMIM:616095
HP:0001946	Ketosis	513	ATP5F1D	OMIM:618120
HP:0001946	Ketosis	11222	MRPL3	OMIM:614582
HP:0001946	Ketosis	763	CA5A	OMIM:615751
HP:0001946	Ketosis	5078	PAX4	OMIM:612227
HP:0001946	Ketosis	3767	KCNJ11	OMIM:618856
HP:0001946	Ketosis	64087	MCCC2	OMIM:210210
HP:0001946	Ketosis	2710	GK	OMIM:307030
HP:0001946	Ketosis	9451	EIF2AK3	ORPHA:1667
HP:0001946	Ketosis	38	ACAT1	OMIM:203750
HP:0001946	Ketosis	5019	OXCT1	OMIM:245050
HP:0001946	Ketosis	1537	CYC1	OMIM:615453
HP:0001946	Ketosis	6473	SHOX	ORPHA:314795
HP:0001946	Ketosis	686	BTD	OMIM:253260
HP:0001946	Ketosis	686	BTD	ORPHA:79241
HP:0001946	Ketosis	3172	HNF4A	ORPHA:263455
HP:0001946	Ketosis	4594	MMUT	OMIM:251000
HP:0001946	Ketosis	1340	COX6B1	OMIM:619051
HP:0001946	Ketosis	2542	SLC37A4	OMIM:232240
HP:0001946	Ketosis	2639	GCDH	OMIM:231670
HP:0001946	Ketosis	5256	PHKA2	ORPHA:264580
HP:0001946	Ketosis	5261	PHKG2	ORPHA:264580
HP:0003560	Muscular dystrophy	1410	CRYAB	OMIM:608810
HP:0003560	Muscular dystrophy	1410	CRYAB	OMIM:613869
HP:0003560	Muscular dystrophy	5339	PLEC	ORPHA:158684
HP:0003560	Muscular dystrophy	5339	PLEC	OMIM:226670
HP:0003560	Muscular dystrophy	5339	PLEC	OMIM:613723
HP:0003560	Muscular dystrophy	3691	ITGB4	ORPHA:158684
HP:0003560	Muscular dystrophy	79188	TMEM43	OMIM:614302
HP:0003560	Muscular dystrophy	8291	DYSF	OMIM:254130
HP:0003560	Muscular dystrophy	8291	DYSF	OMIM:253601
HP:0003560	Muscular dystrophy	1756	DMD	OMIM:310200
HP:0003560	Muscular dystrophy	1756	DMD	OMIM:300376
HP:0003560	Muscular dystrophy	11284	PNKP	ORPHA:459033
HP:0003560	Muscular dystrophy	6442	SGCA	ORPHA:62
HP:0003560	Muscular dystrophy	825	CAPN3	OMIM:253600
HP:0003560	Muscular dystrophy	825	CAPN3	ORPHA:267
HP:0003560	Muscular dystrophy	1605	DAG1	OMIM:613818
HP:0003560	Muscular dystrophy	1605	DAG1	OMIM:616538
HP:0003560	Muscular dystrophy	1605	DAG1	ORPHA:899
HP:0003560	Muscular dystrophy	10049	DNAJB6	OMIM:603511
HP:0003560	Muscular dystrophy	1120	CHKB	OMIM:602541
HP:0003560	Muscular dystrophy	190	NR0B1	OMIM:300200
HP:0003560	Muscular dystrophy	9325	TRIP4	OMIM:617066
HP:0003560	Muscular dystrophy	3714	JAG2	OMIM:619566
HP:0003560	Muscular dystrophy	11041	B4GAT1	OMIM:615287
HP:0003560	Muscular dystrophy	11041	B4GAT1	ORPHA:899
HP:0003560	Muscular dystrophy	84892	POMGNT2	OMIM:614830
HP:0003560	Muscular dystrophy	84892	POMGNT2	ORPHA:899
HP:0003560	Muscular dystrophy	11149	BVES	OMIM:616812
HP:0003560	Muscular dystrophy	6443	SGCB	OMIM:604286
HP:0003560	Muscular dystrophy	2710	GK	OMIM:307030
HP:0003560	Muscular dystrophy	148789	B3GALNT2	ORPHA:899
HP:0003560	Muscular dystrophy	148789	B3GALNT2	OMIM:615181
HP:0003560	Muscular dystrophy	1282	COL4A1	ORPHA:899
HP:0003560	Muscular dystrophy	10329	RXYLT1	ORPHA:899
HP:0003560	Muscular dystrophy	6444	SGCD	OMIM:601287
HP:0003560	Muscular dystrophy	26092	TOR1AIP1	OMIM:617072
HP:0003560	Muscular dystrophy	8813	DPM1	OMIM:608799
HP:0003560	Muscular dystrophy	8813	DPM1	ORPHA:79322
HP:0003560	Muscular dystrophy	859	CAV3	OMIM:123320
HP:0003560	Muscular dystrophy	6261	RYR1	OMIM:255320
HP:0003560	Muscular dystrophy	6261	RYR1	ORPHA:98905
HP:0003560	Muscular dystrophy	22954	TRIM32	OMIM:254110
HP:0003560	Muscular dystrophy	6331	SCN5A	ORPHA:1344
HP:0003560	Muscular dystrophy	4878	NPPA	ORPHA:1344
HP:0003560	Muscular dystrophy	6445	SGCG	OMIM:253700
HP:0003560	Muscular dystrophy	55679	LIMS2	OMIM:616827
HP:0003560	Muscular dystrophy	203859	ANO5	OMIM:613319
HP:0003560	Muscular dystrophy	203859	ANO5	OMIM:611307
HP:0003560	Muscular dystrophy	191	AHCY	ORPHA:88618
HP:0003560	Muscular dystrophy	60684	TRAPPC11	ORPHA:369840
HP:0003560	Muscular dystrophy	9184	BUB3	ORPHA:1052
HP:0003560	Muscular dystrophy	699	BUB1	ORPHA:1052
HP:0003560	Muscular dystrophy	9702	CEP57	ORPHA:1052
HP:0003560	Muscular dystrophy	9319	TRIP13	ORPHA:1052
HP:0003560	Muscular dystrophy	701	BUB1B	ORPHA:1052
HP:0003560	Muscular dystrophy	8557	TCAP	OMIM:601954
HP:0003560	Muscular dystrophy	3991	LIPE	OMIM:615980
HP:0003560	Muscular dystrophy	54344	DPM3	ORPHA:263494
HP:0003560	Muscular dystrophy	284119	CAVIN1	OMIM:613327
HP:0003560	Muscular dystrophy	3178	HNRNPA1	OMIM:615426
HP:0003560	Muscular dystrophy	63895	PIEZO2	ORPHA:2461
HP:0003560	Muscular dystrophy	23224	SYNE2	OMIM:612999
HP:0003560	Muscular dystrophy	23534	TNPO3	OMIM:608423
HP:0003560	Muscular dystrophy	64374	SIL1	ORPHA:559
HP:0003560	Muscular dystrophy	51763	INPP5K	ORPHA:559
HP:0003560	Muscular dystrophy	9531	BAG3	OMIM:612954
HP:0003560	Muscular dystrophy	23345	SYNE1	OMIM:612998
HP:0003560	Muscular dystrophy	57190	SELENON	ORPHA:324604
HP:0003560	Muscular dystrophy	4625	MYH7	ORPHA:324604
HP:0003560	Muscular dystrophy	7273	TTN	ORPHA:324604
HP:0003560	Muscular dystrophy	29925	GMPPB	ORPHA:370959
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:370959
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:606612
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:370980
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:236670
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:607155
HP:0003560	Muscular dystrophy	29954	POMT2	ORPHA:370959
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:613156
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:236670
HP:0003560	Muscular dystrophy	84197	POMK	ORPHA:370959
HP:0003560	Muscular dystrophy	55624	POMGNT1	ORPHA:370959
HP:0003560	Muscular dystrophy	55624	POMGNT1	OMIM:613151
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:370959
HP:0003560	Muscular dystrophy	10585	POMT1	OMIM:613155
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:370980
HP:0003560	Muscular dystrophy	10585	POMT1	OMIM:236670
HP:0003560	Muscular dystrophy	3908	LAMA2	OMIM:607855
HP:0003560	Muscular dystrophy	3908	LAMA2	ORPHA:258
HP:0003560	Muscular dystrophy	1303	COL12A1	OMIM:616470
HP:0003560	Muscular dystrophy	1291	COL6A1	OMIM:254090
HP:0003560	Muscular dystrophy	1292	COL6A2	OMIM:254090
HP:0003560	Muscular dystrophy	1293	COL6A3	OMIM:254090
HP:0003560	Muscular dystrophy	3679	ITGA7	OMIM:613204
HP:0003560	Muscular dystrophy	4000	LMNA	OMIM:613205
HP:0003560	Muscular dystrophy	2218	FKTN	ORPHA:370980
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:253800
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:236670
HP:0003560	Muscular dystrophy	729920	CRPPA	ORPHA:370980
HP:0003560	Muscular dystrophy	9215	LARGE1	OMIM:236670
HP:0003560	Muscular dystrophy	58	ACTA1	ORPHA:97240
HP:0003560	Muscular dystrophy	56983	POGLUT1	OMIM:617232
HP:0003560	Muscular dystrophy	9987	HNRNPDL	OMIM:609115
HP:0003560	Muscular dystrophy	2273	FHL1	ORPHA:98863
HP:0003560	Muscular dystrophy	2010	EMD	ORPHA:98863
HP:0003560	Muscular dystrophy	2483	FRG1	OMIM:158900
HP:0003560	Muscular dystrophy	23347	SMCHD1	OMIM:158901
HP:0003202	Skeletal muscle atrophy	1374	CPT1A	ORPHA:156
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	ORPHA:238329
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300232
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	ORPHA:101078
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300614
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300816
HP:0003202	Skeletal muscle atrophy	64374	SIL1	OMIM:248800
HP:0003202	Skeletal muscle atrophy	64374	SIL1	ORPHA:559
HP:0003202	Skeletal muscle atrophy	4702	NDUFA8	OMIM:619272
HP:0003202	Skeletal muscle atrophy	1497	CTNS	OMIM:219800
HP:0003202	Skeletal muscle atrophy	158	ADSL	OMIM:103050
HP:0003202	Skeletal muscle atrophy	1145	CHRNE	OMIM:608931
HP:0003202	Skeletal muscle atrophy	1145	CHRNE	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	26235	FBXL4	OMIM:615471
HP:0003202	Skeletal muscle atrophy	104	ADARB1	OMIM:618862
HP:0003202	Skeletal muscle atrophy	83932	SPRTN	OMIM:616200
HP:0003202	Skeletal muscle atrophy	6834	SURF1	OMIM:616684
HP:0003202	Skeletal muscle atrophy	4750	NEK1	OMIM:617892
HP:0003202	Skeletal muscle atrophy	4750	NEK1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1161	ERCC8	ORPHA:90324
HP:0003202	Skeletal muscle atrophy	2074	ERCC6	ORPHA:90324
HP:0003202	Skeletal muscle atrophy	50484	RRM2B	ORPHA:329336
HP:0003202	Skeletal muscle atrophy	50484	RRM2B	ORPHA:480
HP:0003202	Skeletal muscle atrophy	246243	RNASEH1	ORPHA:329336
HP:0003202	Skeletal muscle atrophy	246243	RNASEH1	OMIM:616479
HP:0003202	Skeletal muscle atrophy	4758	NEU1	OMIM:256550
HP:0003202	Skeletal muscle atrophy	4758	NEU1	ORPHA:812
HP:0003202	Skeletal muscle atrophy	11160	ERLIN2	ORPHA:247604
HP:0003202	Skeletal muscle atrophy	11160	ERLIN2	OMIM:611225
HP:0003202	Skeletal muscle atrophy	22947	DUX4L1	ORPHA:269
HP:0003202	Skeletal muscle atrophy	1789	DNMT3B	ORPHA:269
HP:0003202	Skeletal muscle atrophy	23347	SMCHD1	ORPHA:269
HP:0003202	Skeletal muscle atrophy	100288687	DUX4	ORPHA:269
HP:0003202	Skeletal muscle atrophy	347733	TUBB2B	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	7436	VLDLR	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	124997	WDR81	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	51761	ATP8A2	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	767	CA8	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	5339	PLEC	ORPHA:254361
HP:0003202	Skeletal muscle atrophy	5339	PLEC	OMIM:613723
HP:0003202	Skeletal muscle atrophy	3074	HEXB	ORPHA:309162
HP:0003202	Skeletal muscle atrophy	3074	HEXB	OMIM:268800
HP:0003202	Skeletal muscle atrophy	10479	SLC9A6	OMIM:300243
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:97244
HP:0003202	Skeletal muscle atrophy	58	ACTA1	OMIM:616852
HP:0003202	Skeletal muscle atrophy	10324	KLHL41	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	10324	KLHL41	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	57222	ERGIC1	OMIM:208100
HP:0003202	Skeletal muscle atrophy	57222	ERGIC1	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	131377	KLHL40	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	56203	LMOD3	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	56203	LMOD3	OMIM:616165
HP:0003202	Skeletal muscle atrophy	10528	NOP56	OMIM:614153
HP:0003202	Skeletal muscle atrophy	10528	NOP56	ORPHA:276198
HP:0003202	Skeletal muscle atrophy	9197	SLC33A1	OMIM:612539
HP:0003202	Skeletal muscle atrophy	6335	SCN9A	ORPHA:970
HP:0003202	Skeletal muscle atrophy	65125	WNK1	ORPHA:970
HP:0003202	Skeletal muscle atrophy	54463	RETREG1	ORPHA:970
HP:0003202	Skeletal muscle atrophy	6772	STAT1	OMIM:614162
HP:0003202	Skeletal muscle atrophy	7040	TGFB1	OMIM:131300
HP:0003202	Skeletal muscle atrophy	7040	TGFB1	ORPHA:1328
HP:0003202	Skeletal muscle atrophy	966	CD59	OMIM:612300
HP:0003202	Skeletal muscle atrophy	340061	STING1	OMIM:615934
HP:0003202	Skeletal muscle atrophy	6445	SGCG	OMIM:253700
HP:0003202	Skeletal muscle atrophy	114034	TOE1	OMIM:614969
HP:0003202	Skeletal muscle atrophy	114034	TOE1	ORPHA:284339
HP:0003202	Skeletal muscle atrophy	64087	MCCC2	OMIM:210210
HP:0003202	Skeletal muscle atrophy	823	CAPN1	OMIM:616907
HP:0003202	Skeletal muscle atrophy	823	CAPN1	ORPHA:488594
HP:0003202	Skeletal muscle atrophy	56984	PSMG2	OMIM:619183
HP:0003202	Skeletal muscle atrophy	8802	SUCLG1	OMIM:245400
HP:0003202	Skeletal muscle atrophy	8802	SUCLG1	ORPHA:17
HP:0003202	Skeletal muscle atrophy	7274	TTPA	ORPHA:96
HP:0003202	Skeletal muscle atrophy	23400	ATP13A2	ORPHA:513436
HP:0003202	Skeletal muscle atrophy	1280	COL2A1	ORPHA:2380
HP:0003202	Skeletal muscle atrophy	5442	POLRMT	OMIM:619743
HP:0003202	Skeletal muscle atrophy	118429	ANTXR2	ORPHA:2028
HP:0003202	Skeletal muscle atrophy	55526	DHTKD1	OMIM:615025
HP:0003202	Skeletal muscle atrophy	93627	TBCK	ORPHA:488632
HP:0003202	Skeletal muscle atrophy	84342	COG8	ORPHA:95428
HP:0003202	Skeletal muscle atrophy	649	BMP1	OMIM:614856
HP:0003202	Skeletal muscle atrophy	79731	NARS2	OMIM:616239
HP:0003202	Skeletal muscle atrophy	55157	DARS2	OMIM:611105
HP:0003202	Skeletal muscle atrophy	374393	FAM111B	OMIM:615704
HP:0003202	Skeletal muscle atrophy	113278	SLC52A3	OMIM:211530
HP:0003202	Skeletal muscle atrophy	57167	SALL4	ORPHA:233
HP:0003202	Skeletal muscle atrophy	9935	MAFB	ORPHA:233
HP:0003202	Skeletal muscle atrophy	1123	CHN1	ORPHA:233
HP:0003202	Skeletal muscle atrophy	3475	IFRD1	ORPHA:98771
HP:0003202	Skeletal muscle atrophy	10801	SEPTIN9	OMIM:162100
HP:0003202	Skeletal muscle atrophy	92482	BBIP1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	80184	CEP290	ORPHA:110
HP:0003202	Skeletal muscle atrophy	11020	IFT27	ORPHA:110
HP:0003202	Skeletal muscle atrophy	582	BBS1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	49855	SCAPER	ORPHA:110
HP:0003202	Skeletal muscle atrophy	4867	NPHP1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	51057	WDPCP	ORPHA:110
HP:0003202	Skeletal muscle atrophy	27241	BBS9	ORPHA:110
HP:0003202	Skeletal muscle atrophy	84984	CEP19	ORPHA:110
HP:0003202	Skeletal muscle atrophy	54903	MKS1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	79738	BBS10	ORPHA:110
HP:0003202	Skeletal muscle atrophy	123016	TTC8	ORPHA:110
HP:0003202	Skeletal muscle atrophy	26160	IFT172	ORPHA:110
HP:0003202	Skeletal muscle atrophy	583	BBS2	ORPHA:110
HP:0003202	Skeletal muscle atrophy	585	BBS4	ORPHA:110
HP:0003202	Skeletal muscle atrophy	8195	MKKS	ORPHA:110
HP:0003202	Skeletal muscle atrophy	54585	LZTFL1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	55212	BBS7	ORPHA:110
HP:0003202	Skeletal muscle atrophy	166379	BBS12	ORPHA:110
HP:0003202	Skeletal muscle atrophy	10806	SDCCAG8	ORPHA:110
HP:0003202	Skeletal muscle atrophy	157657	CFAP418	ORPHA:110
HP:0003202	Skeletal muscle atrophy	84100	ARL6	ORPHA:110
HP:0003202	Skeletal muscle atrophy	129880	BBS5	ORPHA:110
HP:0003202	Skeletal muscle atrophy	80173	IFT74	ORPHA:110
HP:0003202	Skeletal muscle atrophy	55773	TBC1D23	OMIM:617695
HP:0003202	Skeletal muscle atrophy	8905	AP1S2	ORPHA:85335
HP:0003202	Skeletal muscle atrophy	8905	AP1S2	ORPHA:85329
HP:0003202	Skeletal muscle atrophy	8363	H4C11	OMIM:619759
HP:0003202	Skeletal muscle atrophy	54902	TTC19	OMIM:615157
HP:0003202	Skeletal muscle atrophy	23287	AGTPBP1	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	23287	AGTPBP1	OMIM:618276
HP:0003202	Skeletal muscle atrophy	51010	EXOSC3	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	51010	EXOSC3	OMIM:614678
HP:0003202	Skeletal muscle atrophy	4191	MDH2	OMIM:617339
HP:0003202	Skeletal muscle atrophy	5728	PTEN	ORPHA:109
HP:0003202	Skeletal muscle atrophy	7486	WRN	ORPHA:902
HP:0003202	Skeletal muscle atrophy	6609	SMPD1	OMIM:257200
HP:0003202	Skeletal muscle atrophy	472	ATM	ORPHA:100
HP:0003202	Skeletal muscle atrophy	10613	ERLIN1	ORPHA:401785
HP:0003202	Skeletal muscle atrophy	10613	ERLIN1	OMIM:615681
HP:0003202	Skeletal muscle atrophy	6305	SBF1	OMIM:615284
HP:0003202	Skeletal muscle atrophy	2720	GLB1	OMIM:230650
HP:0003202	Skeletal muscle atrophy	9896	FIG4	OMIM:612577
HP:0003202	Skeletal muscle atrophy	9896	FIG4	ORPHA:803
HP:0003202	Skeletal muscle atrophy	11149	BVES	OMIM:616812
HP:0003202	Skeletal muscle atrophy	23396	PIP5K1C	OMIM:611369
HP:0003202	Skeletal muscle atrophy	9562	MINPP1	OMIM:619527
HP:0003202	Skeletal muscle atrophy	9562	MINPP1	ORPHA:284339
HP:0003202	Skeletal muscle atrophy	2065	ERBB3	OMIM:607598
HP:0003202	Skeletal muscle atrophy	34	ACADM	ORPHA:42
HP:0003202	Skeletal muscle atrophy	5213	PFKM	ORPHA:371
HP:0003202	Skeletal muscle atrophy	55681	SCYL2	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	84570	COL25A1	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	84317	CCDC115	OMIM:616828
HP:0003202	Skeletal muscle atrophy	55679	LIMS2	OMIM:616827
HP:0003202	Skeletal muscle atrophy	3339	HSPG2	OMIM:255800
HP:0003202	Skeletal muscle atrophy	3339	HSPG2	ORPHA:800
HP:0003202	Skeletal muscle atrophy	3954	LETM1	OMIM:620089
HP:0003202	Skeletal muscle atrophy	25978	CHMP2B	ORPHA:803
HP:0003202	Skeletal muscle atrophy	8148	TAF15	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5445	PON2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5630	PRPH	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5630	PRPH	OMIM:105400
HP:0003202	Skeletal muscle atrophy	55830	GLT8D1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	755	CFAP410	ORPHA:803
HP:0003202	Skeletal muscle atrophy	10891	PPARGC1A	ORPHA:803
HP:0003202	Skeletal muscle atrophy	6647	SOD1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	6647	SOD1	OMIM:105400
HP:0003202	Skeletal muscle atrophy	10133	OPTN	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5444	PON1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5446	PON3	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5216	PFN1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5216	PFN1	OMIM:614808
HP:0003202	Skeletal muscle atrophy	54209	TREM2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	29978	UBQLN2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	2733	GLE1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	2733	GLE1	ORPHA:1486
HP:0003202	Skeletal muscle atrophy	2733	GLE1	OMIM:253310
HP:0003202	Skeletal muscle atrophy	2733	GLE1	OMIM:611890
HP:0003202	Skeletal muscle atrophy	2043	EPHA4	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1610	DAO	ORPHA:803
HP:0003202	Skeletal muscle atrophy	2066	ERBB4	ORPHA:803
HP:0003202	Skeletal muscle atrophy	311	ANXA11	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23025	UNC13A	ORPHA:803
HP:0003202	Skeletal muscle atrophy	899	CCNF	ORPHA:803
HP:0003202	Skeletal muscle atrophy	84295	PHF6	ORPHA:127
HP:0003202	Skeletal muscle atrophy	5837	PYGM	ORPHA:368
HP:0003202	Skeletal muscle atrophy	23479	ISCU	OMIM:255125
HP:0003202	Skeletal muscle atrophy	367	AR	ORPHA:481
HP:0003202	Skeletal muscle atrophy	4509	MT-ATP8	ORPHA:480
HP:0003202	Skeletal muscle atrophy	4567	MT-TL1	ORPHA:480
HP:0003202	Skeletal muscle atrophy	58497	PRUNE1	OMIM:617481
HP:0003202	Skeletal muscle atrophy	3991	LIPE	OMIM:615980
HP:0003202	Skeletal muscle atrophy	5256	PHKA2	ORPHA:264580
HP:0003202	Skeletal muscle atrophy	5261	PHKG2	ORPHA:264580
HP:0003202	Skeletal muscle atrophy	3679	ITGA7	OMIM:613204
HP:0003202	Skeletal muscle atrophy	5081	PAX7	OMIM:618578
HP:0003202	Skeletal muscle atrophy	4204	MECP2	OMIM:312750
HP:0003202	Skeletal muscle atrophy	4204	MECP2	ORPHA:778
HP:0003202	Skeletal muscle atrophy	63895	PIEZO2	ORPHA:2461
HP:0003202	Skeletal muscle atrophy	57410	SCYL1	OMIM:616719
HP:0003202	Skeletal muscle atrophy	5830	PEX5	OMIM:616716
HP:0003202	Skeletal muscle atrophy	389827	MYMK	OMIM:254940
HP:0003202	Skeletal muscle atrophy	389827	MYMK	ORPHA:1358
HP:0003202	Skeletal muscle atrophy	8803	SUCLA2	ORPHA:1933
HP:0003202	Skeletal muscle atrophy	8803	SUCLA2	OMIM:612073
HP:0003202	Skeletal muscle atrophy	10075	HUWE1	OMIM:309590
HP:0003202	Skeletal muscle atrophy	91949	COG7	OMIM:608779
HP:0003202	Skeletal muscle atrophy	10059	DNM1L	ORPHA:330050
HP:0003202	Skeletal muscle atrophy	10059	DNM1L	ORPHA:98673
HP:0003202	Skeletal muscle atrophy	126129	CPT1C	OMIM:616282
HP:0003202	Skeletal muscle atrophy	160418	TMTC3	OMIM:617255
HP:0003202	Skeletal muscle atrophy	8506	CNTNAP1	OMIM:616286
HP:0003202	Skeletal muscle atrophy	123606	NIPA1	ORPHA:100988
HP:0003202	Skeletal muscle atrophy	270	AMPD1	OMIM:615511
HP:0003202	Skeletal muscle atrophy	2632	GBE1	OMIM:232500
HP:0003202	Skeletal muscle atrophy	7167	TPI1	OMIM:615512
HP:0003202	Skeletal muscle atrophy	7167	TPI1	ORPHA:868
HP:0003202	Skeletal muscle atrophy	132	ADK	OMIM:614300
HP:0003202	Skeletal muscle atrophy	4720	NDUFS2	OMIM:618228
HP:0003202	Skeletal muscle atrophy	27235	COQ2	OMIM:146500
HP:0003202	Skeletal muscle atrophy	113235	SLC46A1	ORPHA:90045
HP:0003202	Skeletal muscle atrophy	3714	JAG2	OMIM:619566
HP:0003202	Skeletal muscle atrophy	1294	COL7A1	ORPHA:89842
HP:0003202	Skeletal muscle atrophy	137682	NDUFAF6	OMIM:618239
HP:0003202	Skeletal muscle atrophy	55033	FKBP14	OMIM:614557
HP:0003202	Skeletal muscle atrophy	55033	FKBP14	ORPHA:300179
HP:0003202	Skeletal muscle atrophy	148789	B3GALNT2	ORPHA:899
HP:0003202	Skeletal muscle atrophy	9215	LARGE1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	1282	COL4A1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	10329	RXYLT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	1605	DAG1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	11041	B4GAT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	84197	POMK	ORPHA:899
HP:0003202	Skeletal muscle atrophy	55624	POMGNT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	101929726	MYMX	ORPHA:1358
HP:0003202	Skeletal muscle atrophy	6904	TBCD	ORPHA:496641
HP:0003202	Skeletal muscle atrophy	6904	TBCD	OMIM:617193
HP:0003202	Skeletal muscle atrophy	4976	OPA1	ORPHA:98673
HP:0003202	Skeletal muscle atrophy	4976	OPA1	OMIM:616896
HP:0003202	Skeletal muscle atrophy	5980	REV3L	ORPHA:570
HP:0003202	Skeletal muscle atrophy	23129	PLXND1	ORPHA:570
HP:0003202	Skeletal muscle atrophy	2316	FLNA	OMIM:305620
HP:0003202	Skeletal muscle atrophy	55967	NDUFA12	OMIM:618244
HP:0003202	Skeletal muscle atrophy	3643	INSR	OMIM:246200
HP:0003202	Skeletal muscle atrophy	3643	INSR	ORPHA:508
HP:0003202	Skeletal muscle atrophy	6331	SCN5A	ORPHA:1344
HP:0003202	Skeletal muscle atrophy	4878	NPPA	ORPHA:1344
HP:0003202	Skeletal muscle atrophy	10616	RBCK1	OMIM:615895
HP:0003202	Skeletal muscle atrophy	29920	PYCR2	ORPHA:481152
HP:0003202	Skeletal muscle atrophy	29920	PYCR2	OMIM:616420
HP:0003202	Skeletal muscle atrophy	5257	PHKB	ORPHA:79240
HP:0003202	Skeletal muscle atrophy	291	SLC25A4	OMIM:615418
HP:0003202	Skeletal muscle atrophy	259232	NALCN	OMIM:615419
HP:0003202	Skeletal muscle atrophy	3913	LAMB2	OMIM:609049
HP:0003202	Skeletal muscle atrophy	3913	LAMB2	ORPHA:98915
HP:0003202	Skeletal muscle atrophy	9056	SLC7A7	OMIM:222700
HP:0003202	Skeletal muscle atrophy	2583	B4GALNT1	ORPHA:101006
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	ORPHA:682
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	OMIM:608390
HP:0003202	Skeletal muscle atrophy	8091	HMGA2	ORPHA:94063
HP:0003202	Skeletal muscle atrophy	23592	LEMD3	ORPHA:94063
HP:0003202	Skeletal muscle atrophy	271	AMPD2	ORPHA:401805
HP:0003202	Skeletal muscle atrophy	271	AMPD2	OMIM:615686
HP:0003202	Skeletal muscle atrophy	4507	MTAP	OMIM:112250
HP:0003202	Skeletal muscle atrophy	51300	TIMMDC1	OMIM:618251
HP:0003202	Skeletal muscle atrophy	4714	NDUFB8	OMIM:618252
HP:0003202	Skeletal muscle atrophy	390594	KBTBD13	OMIM:609273
HP:0003202	Skeletal muscle atrophy	9049	AIP	OMIM:219090
HP:0003202	Skeletal muscle atrophy	1756	DMD	ORPHA:98895
HP:0003202	Skeletal muscle atrophy	1756	DMD	ORPHA:98896
HP:0003202	Skeletal muscle atrophy	8425	LTBP4	ORPHA:98896
HP:0003202	Skeletal muscle atrophy	28982	FLVCR1	OMIM:609033
HP:0003202	Skeletal muscle atrophy	11285	B4GALT7	ORPHA:75496
HP:0003202	Skeletal muscle atrophy	6197	RPS6KA3	ORPHA:192
HP:0003202	Skeletal muscle atrophy	246329	STAC3	ORPHA:168572
HP:0003202	Skeletal muscle atrophy	246329	STAC3	OMIM:255995
HP:0003202	Skeletal muscle atrophy	203228	C9orf72	OMIM:105550
HP:0003202	Skeletal muscle atrophy	953	ENTPD1	OMIM:615683
HP:0003202	Skeletal muscle atrophy	8292	COLQ	ORPHA:98915
HP:0003202	Skeletal muscle atrophy	4604	MYBPC1	OMIM:614915
HP:0003202	Skeletal muscle atrophy	4038	LRP4	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	1140	CHRNB1	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	1140	CHRNB1	OMIM:616313
HP:0003202	Skeletal muscle atrophy	1144	CHRND	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	221264	AK9	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	5296	PIK3R2	OMIM:603387
HP:0003202	Skeletal muscle atrophy	5264	PHYH	ORPHA:773
HP:0003202	Skeletal muscle atrophy	5191	PEX7	ORPHA:773
HP:0003202	Skeletal muscle atrophy	1493	CTLA4	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	940	CD28	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	7133	TNFRSF1B	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	119559	SFXN4	OMIM:615578
HP:0003202	Skeletal muscle atrophy	4724	NDUFS4	OMIM:252010
HP:0003202	Skeletal muscle atrophy	60386	SLC25A19	OMIM:613710
HP:0003202	Skeletal muscle atrophy	5430	POLR2A	OMIM:618603
HP:0003202	Skeletal muscle atrophy	4683	NBN	ORPHA:647
HP:0003202	Skeletal muscle atrophy	4621	MYH3	ORPHA:2990
HP:0003202	Skeletal muscle atrophy	1146	CHRNG	ORPHA:2990
HP:0003202	Skeletal muscle atrophy	5354	PLP1	OMIM:312920
HP:0003202	Skeletal muscle atrophy	22978	NT5C2	OMIM:613162
HP:0003202	Skeletal muscle atrophy	51776	MAP3K20	OMIM:617760
HP:0003202	Skeletal muscle atrophy	16	AARS1	OMIM:613287
HP:0003202	Skeletal muscle atrophy	87178	PNPT1	OMIM:614932
HP:0003202	Skeletal muscle atrophy	90523	MLIP	OMIM:620138
HP:0003202	Skeletal muscle atrophy	5696	PSMB8	OMIM:256040
HP:0003202	Skeletal muscle atrophy	50846	DHH	ORPHA:168563
HP:0003202	Skeletal muscle atrophy	1311	COMP	OMIM:619161
HP:0003202	Skeletal muscle atrophy	91252	SLC39A13	ORPHA:157965
HP:0003202	Skeletal muscle atrophy	91252	SLC39A13	OMIM:612350
HP:0003202	Skeletal muscle atrophy	8985	PLOD3	OMIM:612394
HP:0003202	Skeletal muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0003202	Skeletal muscle atrophy	5165	PDK3	ORPHA:352675
HP:0003202	Skeletal muscle atrophy	4703	NEB	OMIM:256030
HP:0003202	Skeletal muscle atrophy	3710	ITPR3	OMIM:620111
HP:0003202	Skeletal muscle atrophy	3425	IDUA	OMIM:607015
HP:0003202	Skeletal muscle atrophy	23064	SETX	OMIM:602433
HP:0003202	Skeletal muscle atrophy	23064	SETX	OMIM:606002
HP:0003202	Skeletal muscle atrophy	10749	KIF1C	ORPHA:397946
HP:0003202	Skeletal muscle atrophy	10749	KIF1C	OMIM:611302
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:618184
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:180800
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:607677
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:607791
HP:0003202	Skeletal muscle atrophy	4359	MPZ	ORPHA:3115
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:118200
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:607736
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:145900
HP:0003202	Skeletal muscle atrophy	7072	TIA1	OMIM:604454
HP:0003202	Skeletal muscle atrophy	23111	SPART	OMIM:275900
HP:0003202	Skeletal muscle atrophy	23111	SPART	ORPHA:101000
HP:0003202	Skeletal muscle atrophy	4141	MARS1	OMIM:616280
HP:0003202	Skeletal muscle atrophy	10020	GNE	OMIM:605820
HP:0003202	Skeletal muscle atrophy	23769	FLRT1	ORPHA:320406
HP:0003202	Skeletal muscle atrophy	64837	KLC2	ORPHA:320406
HP:0003202	Skeletal muscle atrophy	64837	KLC2	OMIM:609541
HP:0003202	Skeletal muscle atrophy	4287	ATXN3	OMIM:109150
HP:0003202	Skeletal muscle atrophy	91574	MTRFR	ORPHA:254930
HP:0003202	Skeletal muscle atrophy	5376	PMP22	OMIM:118300
HP:0003202	Skeletal muscle atrophy	5376	PMP22	OMIM:180800
HP:0003202	Skeletal muscle atrophy	5376	PMP22	ORPHA:3115
HP:0003202	Skeletal muscle atrophy	5376	PMP22	OMIM:118220
HP:0003202	Skeletal muscle atrophy	5376	PMP22	OMIM:145900
HP:0003202	Skeletal muscle atrophy	127833	SYT2	OMIM:616040
HP:0003202	Skeletal muscle atrophy	127833	SYT2	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6683	SPAST	ORPHA:100985
HP:0003202	Skeletal muscle atrophy	112	ADCY6	OMIM:616287
HP:0003202	Skeletal muscle atrophy	4311	MME	OMIM:617018
HP:0003202	Skeletal muscle atrophy	4311	MME	ORPHA:497764
HP:0003202	Skeletal muscle atrophy	8291	DYSF	OMIM:254130
HP:0003202	Skeletal muscle atrophy	50717	DCAF8	OMIM:610100
HP:0003202	Skeletal muscle atrophy	57704	GBA2	ORPHA:352641
HP:0003202	Skeletal muscle atrophy	19	ABCA1	OMIM:205400
HP:0003202	Skeletal muscle atrophy	4747	NEFL	ORPHA:99939
HP:0003202	Skeletal muscle atrophy	4747	NEFL	OMIM:607684
HP:0003202	Skeletal muscle atrophy	4747	NEFL	OMIM:607734
HP:0003202	Skeletal muscle atrophy	2617	GARS1	ORPHA:139536
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:619042
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:600794
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:601472
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	OMIM:270685
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	ORPHA:100998
HP:0003202	Skeletal muscle atrophy	65055	REEP1	ORPHA:139536
HP:0003202	Skeletal muscle atrophy	65055	REEP1	OMIM:610250
HP:0003202	Skeletal muscle atrophy	55775	TDP1	ORPHA:94124
HP:0003202	Skeletal muscle atrophy	55775	TDP1	OMIM:607250
HP:0003202	Skeletal muscle atrophy	10516	FBLN5	OMIM:608895
HP:0003202	Skeletal muscle atrophy	7879	RAB7A	OMIM:600882
HP:0003202	Skeletal muscle atrophy	200205	IBA57	ORPHA:468661
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:607678
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:605253
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:145900
HP:0003202	Skeletal muscle atrophy	10743	RAI1	ORPHA:477817
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	OMIM:607831
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	OMIM:607706
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	OMIM:214400
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	OMIM:608340
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	ORPHA:99948
HP:0003202	Skeletal muscle atrophy	56704	JPH1	OMIM:607831
HP:0003202	Skeletal muscle atrophy	10397	NDRG1	OMIM:601455
HP:0003202	Skeletal muscle atrophy	55187	VPS13D	OMIM:607317
HP:0003202	Skeletal muscle atrophy	538	ATP7A	OMIM:300489
HP:0003202	Skeletal muscle atrophy	6311	ATXN2	OMIM:183090
HP:0003202	Skeletal muscle atrophy	6905	TBCE	ORPHA:496756
HP:0003202	Skeletal muscle atrophy	6905	TBCE	OMIM:617207
HP:0003202	Skeletal muscle atrophy	80347	COASY	OMIM:615643
HP:0003202	Skeletal muscle atrophy	90678	LRSAM1	OMIM:614436
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:275400
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:612020
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:215470
HP:0003202	Skeletal muscle atrophy	3508	IGHMBP2	OMIM:604320
HP:0003202	Skeletal muscle atrophy	81846	SBF2	OMIM:604563
HP:0003202	Skeletal muscle atrophy	60482	SLC5A7	OMIM:158580
HP:0003202	Skeletal muscle atrophy	60482	SLC5A7	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	547	KIF1A	ORPHA:101010
HP:0003202	Skeletal muscle atrophy	4358	MPV17	OMIM:618400
HP:0003202	Skeletal muscle atrophy	122622	ADSS1	OMIM:617030
HP:0003202	Skeletal muscle atrophy	4704	NDUFA9	OMIM:618247
HP:0003202	Skeletal muscle atrophy	55154	MSTO1	OMIM:617675
HP:0003202	Skeletal muscle atrophy	55906	ZC4H2	OMIM:314580
HP:0003202	Skeletal muscle atrophy	55906	ZC4H2	ORPHA:3454
HP:0003202	Skeletal muscle atrophy	5631	PRPS1	OMIM:311070
HP:0003202	Skeletal muscle atrophy	91137	SLC25A46	OMIM:616505
HP:0003202	Skeletal muscle atrophy	3035	HARS1	OMIM:616625
HP:0003202	Skeletal muscle atrophy	29967	LRP12	OMIM:164310
HP:0003202	Skeletal muscle atrophy	4361	MRE11	OMIM:604391
HP:0003202	Skeletal muscle atrophy	80208	SPG11	OMIM:602099
HP:0003202	Skeletal muscle atrophy	80208	SPG11	ORPHA:2822
HP:0003202	Skeletal muscle atrophy	80208	SPG11	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	9499	MYOT	OMIM:609200
HP:0003202	Skeletal muscle atrophy	9499	MYOT	ORPHA:98911
HP:0003202	Skeletal muscle atrophy	10939	AFG3L2	ORPHA:313772
HP:0003202	Skeletal muscle atrophy	10939	AFG3L2	OMIM:614487
HP:0003202	Skeletal muscle atrophy	9217	VAPB	OMIM:608627
HP:0003202	Skeletal muscle atrophy	9217	VAPB	OMIM:182980
HP:0003202	Skeletal muscle atrophy	26278	SACS	ORPHA:98
HP:0003202	Skeletal muscle atrophy	26278	SACS	OMIM:270550
HP:0003202	Skeletal muscle atrophy	51651	PTRH2	ORPHA:456312
HP:0003202	Skeletal muscle atrophy	84892	POMGNT2	OMIM:618135
HP:0003202	Skeletal muscle atrophy	83636	C19orf12	OMIM:614298
HP:0003202	Skeletal muscle atrophy	83636	C19orf12	OMIM:615043
HP:0003202	Skeletal muscle atrophy	26090	ABHD12	OMIM:612674
HP:0003202	Skeletal muscle atrophy	23230	VPS13A	ORPHA:2388
HP:0003202	Skeletal muscle atrophy	88	ACTN2	OMIM:618655
HP:0003202	Skeletal muscle atrophy	54840	APTX	OMIM:208920
HP:0003202	Skeletal muscle atrophy	89874	SLC25A21	OMIM:618811
HP:0003202	Skeletal muscle atrophy	9927	MFN2	OMIM:601152
HP:0003202	Skeletal muscle atrophy	9927	MFN2	OMIM:609260
HP:0003202	Skeletal muscle atrophy	10558	SPTLC1	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	10558	SPTLC1	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	25923	ATL3	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	9517	SPTLC2	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	51062	ATL1	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	11284	PNKP	OMIM:605589
HP:0003202	Skeletal muscle atrophy	81857	MED25	OMIM:605589
HP:0003202	Skeletal muscle atrophy	65260	COA7	OMIM:618387
HP:0003202	Skeletal muscle atrophy	203859	ANO5	ORPHA:399096
HP:0003202	Skeletal muscle atrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003202	Skeletal muscle atrophy	5255	PHKA1	OMIM:300559
HP:0003202	Skeletal muscle atrophy	22948	CCT5	ORPHA:139578
HP:0003202	Skeletal muscle atrophy	22948	CCT5	OMIM:256840
HP:0003202	Skeletal muscle atrophy	1593	CYP27A1	ORPHA:909
HP:0003202	Skeletal muscle atrophy	57863	CADM3	OMIM:619519
HP:0003202	Skeletal muscle atrophy	1890	TYMP	OMIM:603041
HP:0003202	Skeletal muscle atrophy	5428	POLG	OMIM:603041
HP:0003202	Skeletal muscle atrophy	1639	DCTN1	OMIM:607641
HP:0003202	Skeletal muscle atrophy	8898	MTMR2	OMIM:601382
HP:0003202	Skeletal muscle atrophy	23503	ZFYVE26	OMIM:270700
HP:0003202	Skeletal muscle atrophy	23503	ZFYVE26	ORPHA:100996
HP:0003202	Skeletal muscle atrophy	55210	ATAD3A	OMIM:617183
HP:0003202	Skeletal muscle atrophy	26137	ZBTB20	OMIM:259050
HP:0003202	Skeletal muscle atrophy	2521	FUS	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	10280	SIGMAR1	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	10280	SIGMAR1	OMIM:605726
HP:0003202	Skeletal muscle atrophy	57679	ALS2	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	57679	ALS2	OMIM:205100
HP:0003202	Skeletal muscle atrophy	476	ATP1A1	OMIM:618036
HP:0003202	Skeletal muscle atrophy	5375	PMP2	OMIM:618279
HP:0003202	Skeletal muscle atrophy	23095	KIF1B	OMIM:118210
HP:0003202	Skeletal muscle atrophy	5192	PEX10	OMIM:614871
HP:0003202	Skeletal muscle atrophy	4649	MYO9A	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	1305	COL13A1	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	1103	CHAT	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6576	SLC25A1	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6843	VAMP1	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	375790	AGRN	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6572	SLC18A3	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6616	SNAP25	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	11261	CHP1	OMIM:618438
HP:0003202	Skeletal muscle atrophy	5832	ALDH18A1	OMIM:219150
HP:0003202	Skeletal muscle atrophy	7443	VRK1	OMIM:607596
HP:0003202	Skeletal muscle atrophy	6663	SOX10	OMIM:609136
HP:0003202	Skeletal muscle atrophy	8565	YARS1	OMIM:608323
HP:0003202	Skeletal muscle atrophy	56652	TWNK	OMIM:271245
HP:0003202	Skeletal muscle atrophy	9516	LITAF	OMIM:601098
HP:0003202	Skeletal muscle atrophy	9147	NEMF	OMIM:619099
HP:0003202	Skeletal muscle atrophy	178	AGL	OMIM:232400
HP:0003202	Skeletal muscle atrophy	10273	STUB1	ORPHA:412057
HP:0003202	Skeletal muscle atrophy	6389	SDHA	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	6390	SDHB	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	6392	SDHD	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	644096	SDHAF1	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	283	ANG	OMIM:611895
HP:0003202	Skeletal muscle atrophy	79784	MYH14	OMIM:614369
HP:0003202	Skeletal muscle atrophy	23533	PIK3R5	OMIM:615217
HP:0003202	Skeletal muscle atrophy	57731	SPTBN4	OMIM:617519
HP:0003202	Skeletal muscle atrophy	26353	HSPB8	OMIM:608673
HP:0003202	Skeletal muscle atrophy	3098	HK1	ORPHA:99953
HP:0003202	Skeletal muscle atrophy	8139	GAN	OMIM:256850
HP:0003202	Skeletal muscle atrophy	79628	SH3TC2	OMIM:601596
HP:0003202	Skeletal muscle atrophy	79628	SH3TC2	ORPHA:99949
HP:0003202	Skeletal muscle atrophy	57716	PRX	OMIM:614895
HP:0003202	Skeletal muscle atrophy	57716	PRX	OMIM:145900
HP:0003202	Skeletal muscle atrophy	6310	ATXN1	OMIM:164400
HP:0003202	Skeletal muscle atrophy	285489	DOK7	OMIM:254300
HP:0003202	Skeletal muscle atrophy	8729	GBF1	OMIM:606483
HP:0003202	Skeletal muscle atrophy	57449	PLEKHG5	OMIM:611067
HP:0003202	Skeletal muscle atrophy	4625	MYH7	OMIM:255160
HP:0003202	Skeletal muscle atrophy	4625	MYH7	OMIM:608358
HP:0003202	Skeletal muscle atrophy	4000	LMNA	OMIM:613205
HP:0003202	Skeletal muscle atrophy	59341	TRPV4	OMIM:181405
HP:0003202	Skeletal muscle atrophy	29954	POMT2	ORPHA:206559
HP:0003202	Skeletal muscle atrophy	274	BIN1	ORPHA:169186
HP:0003202	Skeletal muscle atrophy	274	BIN1	OMIM:255200
HP:0003202	Skeletal muscle atrophy	10290	SPEG	ORPHA:169186
HP:0003202	Skeletal muscle atrophy	4927	NUP88	ORPHA:994
HP:0003202	Skeletal muscle atrophy	7846	TUBA1A	ORPHA:994
HP:0003202	Skeletal muscle atrophy	4654	MYOD1	ORPHA:994
HP:0003202	Skeletal muscle atrophy	4593	MUSK	ORPHA:994
HP:0003202	Skeletal muscle atrophy	4593	MUSK	OMIM:208150
HP:0003202	Skeletal muscle atrophy	5913	RAPSN	ORPHA:994
HP:0003202	Skeletal muscle atrophy	57190	SELENON	ORPHA:324604
HP:0003202	Skeletal muscle atrophy	57190	SELENON	OMIM:602771
HP:0003202	Skeletal muscle atrophy	55131	RBM28	ORPHA:157954
HP:0003202	Skeletal muscle atrophy	1291	COL6A1	OMIM:254090
HP:0003202	Skeletal muscle atrophy	1291	COL6A1	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1291	COL6A1	ORPHA:610
HP:0003202	Skeletal muscle atrophy	1292	COL6A2	OMIM:254090
HP:0003202	Skeletal muscle atrophy	1292	COL6A2	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1292	COL6A2	ORPHA:610
HP:0003202	Skeletal muscle atrophy	1293	COL6A3	OMIM:254090
HP:0003202	Skeletal muscle atrophy	1293	COL6A3	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1293	COL6A3	ORPHA:610
HP:0003202	Skeletal muscle atrophy	1763	DNA2	OMIM:615156
HP:0003202	Skeletal muscle atrophy	5393	EXOSC9	OMIM:618065
HP:0003202	Skeletal muscle atrophy	79912	PYROXD1	OMIM:617258
HP:0003202	Skeletal muscle atrophy	4967	OGDH	OMIM:203740
HP:0003202	Skeletal muscle atrophy	11128	POLR3A	OMIM:264090
HP:0003202	Skeletal muscle atrophy	23435	TARDBP	ORPHA:275872
HP:0003202	Skeletal muscle atrophy	29110	TBK1	ORPHA:275872
HP:0003202	Skeletal muscle atrophy	79581	SLC52A2	OMIM:614707
HP:0003202	Skeletal muscle atrophy	1303	COL12A1	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1303	COL12A1	ORPHA:610
HP:0003202	Skeletal muscle atrophy	80055	PGAP1	ORPHA:401820
HP:0003202	Skeletal muscle atrophy	6567	SLC16A2	OMIM:300523
HP:0003202	Skeletal muscle atrophy	81790	RNF170	OMIM:619686
HP:0003202	Skeletal muscle atrophy	55152	DALRD3	OMIM:618910
HP:0003202	Skeletal muscle atrophy	54820	NDE1	OMIM:605013
HP:0003202	Skeletal muscle atrophy	3178	HNRNPA1	ORPHA:52430
HP:0003202	Skeletal muscle atrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0003202	Skeletal muscle atrophy	2859	GPR35	ORPHA:171
HP:0003202	Skeletal muscle atrophy	10507	SEMA4D	ORPHA:171
HP:0003202	Skeletal muscle atrophy	4485	MST1	ORPHA:171
HP:0003202	Skeletal muscle atrophy	6925	TCF4	ORPHA:171
HP:0003202	Skeletal muscle atrophy	3920	LAMP2	OMIM:300257
HP:0003202	Skeletal muscle atrophy	84823	LMNB2	OMIM:616540
HP:0003202	Skeletal muscle atrophy	84665	MYPN	ORPHA:171881
HP:0003202	Skeletal muscle atrophy	7169	TPM2	ORPHA:171881
HP:0003202	Skeletal muscle atrophy	4668	NAGA	OMIM:609241
HP:0003202	Skeletal muscle atrophy	4668	NAGA	ORPHA:79279
HP:0003202	Skeletal muscle atrophy	10352	WARS2	OMIM:617710
HP:0003202	Skeletal muscle atrophy	10352	WARS2	ORPHA:572798
HP:0003202	Skeletal muscle atrophy	131118	DNAJC19	ORPHA:66634
HP:0003202	Skeletal muscle atrophy	36	ACADSB	OMIM:610006
HP:0003202	Skeletal muscle atrophy	205327	C2orf69	OMIM:619423
HP:0003202	Skeletal muscle atrophy	51067	YARS2	OMIM:613561
HP:0003202	Skeletal muscle atrophy	9531	BAG3	OMIM:612954
HP:0003202	Skeletal muscle atrophy	5277	PIGA	OMIM:301072
HP:0003202	Skeletal muscle atrophy	2483	FRG1	OMIM:158900
HP:0003202	Skeletal muscle atrophy	146862	UNC45B	OMIM:619178
HP:0003202	Skeletal muscle atrophy	7170	TPM3	OMIM:609284
HP:0003202	Skeletal muscle atrophy	60	ACTB	ORPHA:64755
HP:0003202	Skeletal muscle atrophy	1716	DGUOK	ORPHA:329314
HP:0003202	Skeletal muscle atrophy	22880	MORC2	ORPHA:466768
HP:0003202	Skeletal muscle atrophy	79147	FKRP	ORPHA:370980
HP:0003202	Skeletal muscle atrophy	2218	FKTN	ORPHA:370980
HP:0003202	Skeletal muscle atrophy	729920	CRPPA	ORPHA:370980
HP:0003202	Skeletal muscle atrophy	10585	POMT1	ORPHA:370980
HP:0003202	Skeletal muscle atrophy	6442	SGCA	OMIM:608099
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	ORPHA:369840
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	ORPHA:369847
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	OMIM:615356
HP:0003202	Skeletal muscle atrophy	56983	POGLUT1	OMIM:617232
HP:0003202	Skeletal muscle atrophy	54344	DPM3	OMIM:612937
HP:0003202	Skeletal muscle atrophy	84196	USP48	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	7157	TP53	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	9101	USP8	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	64072	CDH23	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	2908	NR3C1	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	673	BRAF	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	546	ATRX	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	22954	TRIM32	OMIM:254110
HP:0003202	Skeletal muscle atrophy	5566	PRKACA	ORPHA:189439
HP:0003202	Skeletal muscle atrophy	8622	PDE8B	ORPHA:189439
HP:0003202	Skeletal muscle atrophy	5573	PRKAR1A	ORPHA:189439
HP:0003202	Skeletal muscle atrophy	50940	PDE11A	ORPHA:189439
HP:0003202	Skeletal muscle atrophy	2673	GFPT1	OMIM:610542
HP:0003202	Skeletal muscle atrophy	5190	PEX6	ORPHA:95433
HP:0003202	Skeletal muscle atrophy	9990	SLC12A6	OMIM:620068
HP:0003202	Skeletal muscle atrophy	7138	TNNT1	ORPHA:98902
HP:0003202	Skeletal muscle atrophy	7138	TNNT1	OMIM:605355
HP:0003202	Skeletal muscle atrophy	7148	TNXB	OMIM:606408
HP:0003202	Skeletal muscle atrophy	92667	MGME1	OMIM:615084
HP:0003202	Skeletal muscle atrophy	51763	INPP5K	OMIM:617404
HP:0003202	Skeletal muscle atrophy	79798	ARMC5	ORPHA:189427
HP:0003202	Skeletal muscle atrophy	2778	GNAS	ORPHA:189427
HP:0003202	Skeletal muscle atrophy	10342	TFG	OMIM:604484
HP:0003202	Skeletal muscle atrophy	6443	SGCB	OMIM:604286
HP:0003202	Skeletal muscle atrophy	6786	STIM1	OMIM:160565
HP:0003202	Skeletal muscle atrophy	59345	GNB4	OMIM:615185
HP:0003202	Skeletal muscle atrophy	7143	TNR	OMIM:619653
HP:0003202	Skeletal muscle atrophy	65250	CPLANE1	ORPHA:65684
HP:0003202	Skeletal muscle atrophy	57562	CEP126	ORPHA:65684
HP:0003202	Skeletal muscle atrophy	2705	GJB1	OMIM:302800
HP:0003202	Skeletal muscle atrophy	2705	GJB1	ORPHA:101075
HP:0003202	Skeletal muscle atrophy	2318	FLNC	OMIM:614065
HP:0003202	Skeletal muscle atrophy	8988	HSPB3	OMIM:613376
HP:0003202	Skeletal muscle atrophy	64423	INF2	OMIM:614455
HP:0003202	Skeletal muscle atrophy	7453	WARS1	OMIM:617721
HP:0003202	Skeletal muscle atrophy	8878	SQSTM1	ORPHA:603
HP:0003202	Skeletal muscle atrophy	9782	MATR3	ORPHA:600
HP:0003202	Skeletal muscle atrophy	10755	GIPC1	ORPHA:98897
HP:0003202	Skeletal muscle atrophy	26092	TOR1AIP1	OMIM:617072
HP:0003202	Skeletal muscle atrophy	340075	ARSI	ORPHA:401815
HP:0003202	Skeletal muscle atrophy	340533	NEXMIF	OMIM:300912
HP:0003202	Skeletal muscle atrophy	9255	AIMP1	OMIM:260600
HP:0003202	Skeletal muscle atrophy	64856	VWA1	OMIM:619216
HP:0003202	Skeletal muscle atrophy	6253	RTN2	ORPHA:100993
HP:0003202	Skeletal muscle atrophy	51271	UBAP1	ORPHA:100993
HP:0003202	Skeletal muscle atrophy	8566	PDXK	OMIM:618511
HP:0003202	Skeletal muscle atrophy	10667	FARS2	OMIM:617046
HP:0003202	Skeletal muscle atrophy	10667	FARS2	ORPHA:466722
HP:0003202	Skeletal muscle atrophy	84668	HYCC1	OMIM:610532
HP:0003202	Skeletal muscle atrophy	128486	FITM2	OMIM:618635
HP:0003202	Skeletal muscle atrophy	427	ASAH1	OMIM:159950
HP:0003202	Skeletal muscle atrophy	23299	BICD2	OMIM:615290
HP:0003202	Skeletal muscle atrophy	11340	EXOSC8	OMIM:616081
HP:0003202	Skeletal muscle atrophy	7084	TK2	ORPHA:254875
HP:0003202	Skeletal muscle atrophy	1778	DYNC1H1	OMIM:158600
HP:0003202	Skeletal muscle atrophy	3300	DNAJB2	OMIM:614881
HP:0003202	Skeletal muscle atrophy	81545	FBXO38	OMIM:615575
HP:0003202	Skeletal muscle atrophy	7317	UBA1	ORPHA:1145
HP:0003202	Skeletal muscle atrophy	7317	UBA1	OMIM:301830
HP:0003202	Skeletal muscle atrophy	51008	ASCC1	OMIM:616867
HP:0003202	Skeletal muscle atrophy	9325	TRIP4	OMIM:616866
HP:0003202	Skeletal muscle atrophy	51305	KCNK9	ORPHA:166108
HP:0003202	Skeletal muscle atrophy	400916	CHCHD10	OMIM:615048
HP:0003202	Skeletal muscle atrophy	7528	YY1	ORPHA:506358
HP:0003202	Skeletal muscle atrophy	8450	CUL4B	OMIM:300354
HP:0003202	Skeletal muscle atrophy	4099	MAG	OMIM:616680
HP:0003202	Skeletal muscle atrophy	4099	MAG	ORPHA:459056
HP:0003202	Skeletal muscle atrophy	8242	KDM5C	OMIM:300534
HP:0003202	Skeletal muscle atrophy	3852	KRT5	ORPHA:79396
HP:0003202	Skeletal muscle atrophy	3861	KRT14	ORPHA:79396
HP:0003202	Skeletal muscle atrophy	121512	FGD4	OMIM:609311
HP:0003202	Skeletal muscle atrophy	825	CAPN3	ORPHA:267
HP:0003202	Skeletal muscle atrophy	7415	VCP	OMIM:167320
HP:0003202	Skeletal muscle atrophy	6606	SMN1	OMIM:253400
HP:0003202	Skeletal muscle atrophy	6607	SMN2	OMIM:253400
HP:0003202	Skeletal muscle atrophy	2992	GYG1	OMIM:616199
HP:0003202	Skeletal muscle atrophy	1785	DNM2	OMIM:160150
HP:0003202	Skeletal muscle atrophy	64419	MTMR14	OMIM:160150
HP:0003202	Skeletal muscle atrophy	6444	SGCD	ORPHA:219
HP:0003202	Skeletal muscle atrophy	8557	TCAP	OMIM:601954
HP:0003202	Skeletal muscle atrophy	9987	HNRNPDL	OMIM:609115
HP:0003202	Skeletal muscle atrophy	2273	FHL1	ORPHA:98863
HP:0003202	Skeletal muscle atrophy	2010	EMD	ORPHA:98863
HP:0003202	Skeletal muscle atrophy	79188	TMEM43	ORPHA:98853
HP:0003202	Skeletal muscle atrophy	23345	SYNE1	ORPHA:98853
HP:0003202	Skeletal muscle atrophy	23224	SYNE2	ORPHA:98853
HP:0003202	Skeletal muscle atrophy	1134	CHRNA1	OMIM:601462
HP:0003202	Skeletal muscle atrophy	55768	NGLY1	OMIM:615273
HP:0003202	Skeletal muscle atrophy	23321	TRIM2	OMIM:615490
HP:0003202	Skeletal muscle atrophy	182	JAG1	OMIM:619574
HP:0003202	Skeletal muscle atrophy	859	CAV3	OMIM:614321
HP:0003202	Skeletal muscle atrophy	859	CAV3	ORPHA:488650
HP:0003202	Skeletal muscle atrophy	374969	SVBP	OMIM:618569
HP:0003202	Skeletal muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0003202	Skeletal muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0003202	Skeletal muscle atrophy	11155	LDB3	ORPHA:98912
HP:0003202	Skeletal muscle atrophy	203547	VMA21	OMIM:310440
HP:0003202	Skeletal muscle atrophy	9897	WASHC5	ORPHA:100989
HP:0003202	Skeletal muscle atrophy	3094	HINT1	ORPHA:324442
HP:0003202	Skeletal muscle atrophy	7273	TTN	ORPHA:609
HP:0003202	Skeletal muscle atrophy	1674	DES	OMIM:181400
HP:0003202	Skeletal muscle atrophy	80324	PUS1	OMIM:600462
HP:0003202	Skeletal muscle atrophy	80324	PUS1	ORPHA:2598
HP:0003202	Skeletal muscle atrophy	833	CARS1	OMIM:618891
HP:0003202	Skeletal muscle atrophy	29925	GMPPB	OMIM:615351
HP:0003202	Skeletal muscle atrophy	57104	PNPLA2	ORPHA:98908
HP:0003202	Skeletal muscle atrophy	9997	SCO2	ORPHA:521411
HP:0003202	Skeletal muscle atrophy	9420	CYP7B1	OMIM:270800
HP:0003202	Skeletal muscle atrophy	9420	CYP7B1	ORPHA:100986
HP:0003202	Skeletal muscle atrophy	3798	KIF5A	ORPHA:100991
HP:0003202	Skeletal muscle atrophy	339855	KY	ORPHA:496689
HP:0003202	Skeletal muscle atrophy	7994	KAT6A	OMIM:616268
HP:0003202	Skeletal muscle atrophy	4744	NEFH	OMIM:616924
HP:0003202	Skeletal muscle atrophy	3315	HSPB1	OMIM:606595
HP:0003202	Skeletal muscle atrophy	3315	HSPB1	ORPHA:99940
HP:0003202	Skeletal muscle atrophy	284058	KANSL1	ORPHA:363965
HP:0003202	Skeletal muscle atrophy	284058	KANSL1	ORPHA:363958
HP:0003202	Skeletal muscle atrophy	80199	FUZ	ORPHA:1136
HP:0003202	Skeletal muscle atrophy	2395	FXN	ORPHA:95
HP:0003202	Skeletal muscle atrophy	6261	RYR1	ORPHA:98905
HP:0003202	Skeletal muscle atrophy	7555	CNBP	OMIM:602668
HP:0003202	Skeletal muscle atrophy	4556	MT-TE	ORPHA:2596
HP:0003546	Exercise intolerance	2639	GCDH	ORPHA:25
HP:0003546	Exercise intolerance	291	SLC25A4	ORPHA:254892
HP:0003546	Exercise intolerance	291	SLC25A4	OMIM:609283
HP:0003546	Exercise intolerance	291	SLC25A4	OMIM:615418
HP:0003546	Exercise intolerance	5428	POLG	ORPHA:254892
HP:0003546	Exercise intolerance	5428	POLG	OMIM:258450
HP:0003546	Exercise intolerance	5428	POLG	ORPHA:254886
HP:0003546	Exercise intolerance	5428	POLG	OMIM:157640
HP:0003546	Exercise intolerance	5428	POLG	OMIM:607459
HP:0003546	Exercise intolerance	56652	TWNK	ORPHA:254892
HP:0003546	Exercise intolerance	56652	TWNK	OMIM:609286
HP:0003546	Exercise intolerance	56652	TWNK	OMIM:607459
HP:0003546	Exercise intolerance	11232	POLG2	ORPHA:254892
HP:0003546	Exercise intolerance	11232	POLG2	OMIM:610131
HP:0003546	Exercise intolerance	50484	RRM2B	ORPHA:254892
HP:0003546	Exercise intolerance	50484	RRM2B	ORPHA:329336
HP:0003546	Exercise intolerance	50484	RRM2B	OMIM:613077
HP:0003546	Exercise intolerance	4558	MT-TF	ORPHA:550
HP:0003546	Exercise intolerance	4572	MT-TQ	ORPHA:550
HP:0003546	Exercise intolerance	4512	MT-CO1	ORPHA:550
HP:0003546	Exercise intolerance	4513	MT-CO2	ORPHA:550
HP:0003546	Exercise intolerance	4514	MT-CO3	ORPHA:550
HP:0003546	Exercise intolerance	4578	MT-TW	ORPHA:550
HP:0003546	Exercise intolerance	4540	MT-ND5	ORPHA:550
HP:0003546	Exercise intolerance	4541	MT-ND6	ORPHA:550
HP:0003546	Exercise intolerance	4535	MT-ND1	ORPHA:550
HP:0003546	Exercise intolerance	4538	MT-ND4	ORPHA:550
HP:0003546	Exercise intolerance	4567	MT-TL1	ORPHA:550
HP:0003546	Exercise intolerance	4574	MT-TS1	ORPHA:550
HP:0003546	Exercise intolerance	4574	MT-TS1	OMIM:220110
HP:0003546	Exercise intolerance	4575	MT-TS2	ORPHA:550
HP:0003546	Exercise intolerance	4564	MT-TH	ORPHA:550
HP:0003546	Exercise intolerance	3094	HINT1	ORPHA:324442
HP:0003546	Exercise intolerance	4570	MT-TN	OMIM:220110
HP:0003546	Exercise intolerance	6834	SURF1	OMIM:220110
HP:0003546	Exercise intolerance	29925	GMPPB	OMIM:615352
HP:0003546	Exercise intolerance	29925	GMPPB	ORPHA:363623
HP:0003546	Exercise intolerance	80308	FLAD1	OMIM:255100
HP:0003546	Exercise intolerance	246243	RNASEH1	ORPHA:329336
HP:0003546	Exercise intolerance	246243	RNASEH1	OMIM:616479
HP:0003546	Exercise intolerance	1305	COL13A1	OMIM:616720
HP:0003546	Exercise intolerance	400916	CHCHD10	OMIM:616209
HP:0003546	Exercise intolerance	400916	CHCHD10	ORPHA:457050
HP:0003546	Exercise intolerance	2997	GYS1	OMIM:611556
HP:0003546	Exercise intolerance	345895	RSPH4A	OMIM:612649
HP:0003546	Exercise intolerance	7084	TK2	ORPHA:254886
HP:0003546	Exercise intolerance	7084	TK2	ORPHA:254875
HP:0003546	Exercise intolerance	92667	MGME1	OMIM:615084
HP:0003546	Exercise intolerance	92667	MGME1	ORPHA:352447
HP:0003546	Exercise intolerance	56997	COQ8A	ORPHA:139485
HP:0003546	Exercise intolerance	56997	COQ8A	OMIM:612016
HP:0003546	Exercise intolerance	221421	RSPH9	OMIM:612650
HP:0003546	Exercise intolerance	3939	LDHA	OMIM:612933
HP:0003546	Exercise intolerance	2027	ENO3	OMIM:612932
HP:0003546	Exercise intolerance	28958	COA3	OMIM:619058
HP:0003546	Exercise intolerance	51116	MRPS2	OMIM:617950
HP:0003546	Exercise intolerance	513	ATP5F1D	OMIM:618120
HP:0003546	Exercise intolerance	708	C1QBP	OMIM:617713
HP:0003546	Exercise intolerance	5257	PHKB	ORPHA:79240
HP:0003546	Exercise intolerance	55750	AGK	OMIM:212350
HP:0003546	Exercise intolerance	4566	MT-TK	ORPHA:1349
HP:0003546	Exercise intolerance	80324	PUS1	OMIM:600462
HP:0003546	Exercise intolerance	55863	TMEM126B	OMIM:618250
HP:0003546	Exercise intolerance	5224	PGAM2	OMIM:261670
HP:0003546	Exercise intolerance	7156	TOP3A	OMIM:618098
HP:0003546	Exercise intolerance	390594	KBTBD13	OMIM:609273
HP:0003546	Exercise intolerance	390594	KBTBD13	ORPHA:171439
HP:0003546	Exercise intolerance	1756	DMD	ORPHA:98895
HP:0003546	Exercise intolerance	10370	CITED2	ORPHA:99105
HP:0003546	Exercise intolerance	10370	CITED2	ORPHA:99103
HP:0003546	Exercise intolerance	7092	TLL1	ORPHA:99106
HP:0003546	Exercise intolerance	7092	TLL1	ORPHA:99103
HP:0003546	Exercise intolerance	57057	TBX20	ORPHA:99103
HP:0003546	Exercise intolerance	4624	MYH6	ORPHA:99103
HP:0003546	Exercise intolerance	1482	NKX2-5	ORPHA:99103
HP:0003546	Exercise intolerance	70	ACTC1	ORPHA:99103
HP:0003546	Exercise intolerance	2626	GATA4	ORPHA:99103
HP:0003546	Exercise intolerance	2627	GATA6	ORPHA:99103
HP:0003546	Exercise intolerance	1763	DNA2	OMIM:615156
HP:0003546	Exercise intolerance	5255	PHKA1	OMIM:300559
HP:0003546	Exercise intolerance	2548	GAA	OMIM:232300
HP:0003546	Exercise intolerance	4519	MT-CYB	ORPHA:137675
HP:0003546	Exercise intolerance	3032	HADHB	ORPHA:746
HP:0003546	Exercise intolerance	3030	HADHA	ORPHA:746
HP:0003546	Exercise intolerance	10056	FARSB	OMIM:613658
HP:0003546	Exercise intolerance	8659	ALDH4A1	ORPHA:79101
HP:0003546	Exercise intolerance	63895	PIEZO2	OMIM:108145
HP:0003546	Exercise intolerance	1303	COL12A1	ORPHA:536516
HP:0003546	Exercise intolerance	57570	TRMT5	OMIM:616539
HP:0003546	Exercise intolerance	11149	BVES	OMIM:616812
HP:0003546	Exercise intolerance	28976	ACAD9	OMIM:611126
HP:0003546	Exercise intolerance	6901	TAFAZZIN	OMIM:302060
HP:0003546	Exercise intolerance	617	BCS1L	OMIM:124000
HP:0003546	Exercise intolerance	57104	PNPLA2	OMIM:610717
HP:0003546	Exercise intolerance	3920	LAMP2	OMIM:300257
HP:0003546	Exercise intolerance	5230	PGK1	OMIM:300653
HP:0003546	Exercise intolerance	2193	FARSA	OMIM:619013
HP:0003546	Exercise intolerance	6572	SLC18A3	OMIM:617239
HP:0003546	Exercise intolerance	4724	NDUFS4	OMIM:252010
HP:0003546	Exercise intolerance	5213	PFKM	OMIM:232800
HP:0003546	Exercise intolerance	5236	PGM1	OMIM:614921
HP:0003546	Exercise intolerance	84665	MYPN	ORPHA:171439
HP:0003546	Exercise intolerance	58	ACTA1	ORPHA:171439
HP:0003546	Exercise intolerance	7169	TPM2	ORPHA:171439
HP:0003546	Exercise intolerance	4703	NEB	ORPHA:171439
HP:0003546	Exercise intolerance	10324	KLHL41	ORPHA:171439
HP:0003546	Exercise intolerance	7170	TPM3	ORPHA:171439
HP:0003546	Exercise intolerance	5430	POLR2A	OMIM:618603
HP:0003546	Exercise intolerance	1376	CPT2	ORPHA:228302
HP:0003546	Exercise intolerance	1376	CPT2	ORPHA:228305
HP:0003546	Exercise intolerance	4556	MT-TE	ORPHA:2596
HP:0003546	Exercise intolerance	23479	ISCU	OMIM:255125
HP:0003546	Exercise intolerance	6389	SDHA	OMIM:252011
HP:0003546	Exercise intolerance	124093	CCDC78	OMIM:614807
HP:0003546	Exercise intolerance	51067	YARS2	OMIM:613561
HP:0003546	Exercise intolerance	5256	PHKA2	ORPHA:264580
HP:0003546	Exercise intolerance	5261	PHKG2	ORPHA:264580
HP:0003546	Exercise intolerance	125170	MIEF2	OMIM:619024
HP:0003546	Exercise intolerance	284119	CAVIN1	OMIM:613327
HP:0003546	Exercise intolerance	90523	MLIP	OMIM:620138
HP:0003546	Exercise intolerance	81034	SLC25A32	OMIM:616839
HP:0003546	Exercise intolerance	6840	SVIL	OMIM:619040
HP:0003546	Exercise intolerance	23299	BICD2	OMIM:615290
HP:0003546	Exercise intolerance	6331	SCN5A	ORPHA:1344
HP:0003546	Exercise intolerance	4878	NPPA	ORPHA:1344
HP:0003546	Exercise intolerance	3753	KCNE1	ORPHA:90647
HP:0003546	Exercise intolerance	3784	KCNQ1	ORPHA:90647
HP:0003546	Exercise intolerance	1311	COMP	ORPHA:93308
HP:0003546	Exercise intolerance	56606	SLC2A9	ORPHA:94088
HP:0003546	Exercise intolerance	116085	SLC22A12	ORPHA:94088
HP:0003546	Exercise intolerance	5836	PYGL	ORPHA:369
HP:0003546	Exercise intolerance	5837	PYGM	ORPHA:368
HP:0003546	Exercise intolerance	1297	COL9A1	ORPHA:166002
HP:0003546	Exercise intolerance	1298	COL9A2	ORPHA:166002
HP:0003546	Exercise intolerance	1299	COL9A3	ORPHA:166002
HP:0003547	Shoulder girdle muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003547	Shoulder girdle muscle weakness	5428	POLG	ORPHA:254892
HP:0003547	Shoulder girdle muscle weakness	56652	TWNK	ORPHA:254892
HP:0003547	Shoulder girdle muscle weakness	11232	POLG2	ORPHA:254892
HP:0003547	Shoulder girdle muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003547	Shoulder girdle muscle weakness	23299	BICD2	ORPHA:363454
HP:0003547	Shoulder girdle muscle weakness	7273	TTN	OMIM:603689
HP:0003547	Shoulder girdle muscle weakness	1410	CRYAB	OMIM:608810
HP:0003547	Shoulder girdle muscle weakness	79147	FKRP	OMIM:606612
HP:0003547	Shoulder girdle muscle weakness	79147	FKRP	ORPHA:34515
HP:0003547	Shoulder girdle muscle weakness	79147	FKRP	OMIM:607155
HP:0003547	Shoulder girdle muscle weakness	2483	FRG1	OMIM:158900
HP:0003547	Shoulder girdle muscle weakness	55791	LRIF1	OMIM:619477
HP:0003547	Shoulder girdle muscle weakness	4625	MYH7	ORPHA:437572
HP:0003547	Shoulder girdle muscle weakness	4625	MYH7	OMIM:608358
HP:0003547	Shoulder girdle muscle weakness	1763	DNA2	OMIM:615156
HP:0003547	Shoulder girdle muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003547	Shoulder girdle muscle weakness	22954	TRIM32	OMIM:254110
HP:0003547	Shoulder girdle muscle weakness	9782	MATR3	OMIM:606070
HP:0003547	Shoulder girdle muscle weakness	9782	MATR3	ORPHA:600
HP:0003547	Shoulder girdle muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003547	Shoulder girdle muscle weakness	6261	RYR1	ORPHA:98905
HP:0003547	Shoulder girdle muscle weakness	7415	VCP	OMIM:167320
HP:0003547	Shoulder girdle muscle weakness	1073	CFL2	OMIM:610687
HP:0003547	Shoulder girdle muscle weakness	2581	GALC	ORPHA:206436
HP:0003547	Shoulder girdle muscle weakness	5660	PSAP	ORPHA:206436
HP:0003547	Shoulder girdle muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003547	Shoulder girdle muscle weakness	6606	SMN1	OMIM:253400
HP:0003547	Shoulder girdle muscle weakness	6607	SMN2	OMIM:253400
HP:0003547	Shoulder girdle muscle weakness	10020	GNE	ORPHA:602
HP:0003547	Shoulder girdle muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003547	Shoulder girdle muscle weakness	9499	MYOT	ORPHA:266
HP:0003547	Shoulder girdle muscle weakness	57190	SELENON	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	58	ACTA1	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	4633	MYL2	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	7169	TPM2	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	9200	HACD1	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	7170	TPM3	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003547	Shoulder girdle muscle weakness	2992	GYG1	ORPHA:263297
HP:0003547	Shoulder girdle muscle weakness	2992	GYG1	OMIM:616199
HP:0003547	Shoulder girdle muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003547	Shoulder girdle muscle weakness	8291	DYSF	ORPHA:45448
HP:0003547	Shoulder girdle muscle weakness	23534	TNPO3	OMIM:608423
HP:0003547	Shoulder girdle muscle weakness	203859	ANO5	OMIM:611307
HP:0003547	Shoulder girdle muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0003547	Shoulder girdle muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	4038	LRP4	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	1144	CHRND	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	4593	MUSK	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	375790	AGRN	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	221264	AK9	ORPHA:98913
HP:0003547	Shoulder girdle muscle weakness	285489	DOK7	ORPHA:98913
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	87178	PNPT1	ORPHA:319514
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	291	SLC25A4	OMIM:609283
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	5428	POLG	OMIM:157640
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	5428	POLG	OMIM:607459
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	5428	POLG	OMIM:603041
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	5428	POLG	OMIM:258450
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	56652	TWNK	OMIM:607459
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	56652	TWNK	OMIM:609286
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1890	TYMP	OMIM:603041
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	23479	ISCU	OMIM:255125
HP:0003549	Abnormality of connective tissue	8036	SHOC2	OMIM:607721
HP:0003549	Abnormality of connective tissue	23394	ADNP	ORPHA:404448
HP:0003549	Abnormality of connective tissue	268	AMH	ORPHA:2856
HP:0003549	Abnormality of connective tissue	268	AMH	OMIM:261550
HP:0003549	Abnormality of connective tissue	269	AMHR2	ORPHA:2856
HP:0003549	Abnormality of connective tissue	269	AMHR2	OMIM:261550
HP:0003549	Abnormality of connective tissue	81857	MED25	OMIM:616449
HP:0003549	Abnormality of connective tissue	81857	MED25	ORPHA:464738
HP:0003549	Abnormality of connective tissue	64220	STRA6	OMIM:601186
HP:0003549	Abnormality of connective tissue	64412	GZF1	OMIM:617662
HP:0003549	Abnormality of connective tissue	477	ATP1A2	OMIM:619602
HP:0003549	Abnormality of connective tissue	129563	DIS3L2	ORPHA:2849
HP:0003549	Abnormality of connective tissue	64175	P3H1	OMIM:610915
HP:0003549	Abnormality of connective tissue	23545	ATP6V0A2	ORPHA:2834
HP:0003549	Abnormality of connective tissue	23545	ATP6V0A2	OMIM:278250
HP:0003549	Abnormality of connective tissue	23545	ATP6V0A2	OMIM:219200
HP:0003549	Abnormality of connective tissue	23545	ATP6V0A2	ORPHA:357074
HP:0003549	Abnormality of connective tissue	4853	NOTCH2	OMIM:102500
HP:0003549	Abnormality of connective tissue	4853	NOTCH2	ORPHA:955
HP:0003549	Abnormality of connective tissue	1183	CLCN4	ORPHA:485350
HP:0003549	Abnormality of connective tissue	3670	ISL1	ORPHA:93930
HP:0003549	Abnormality of connective tissue	23347	SMCHD1	OMIM:603457
HP:0003549	Abnormality of connective tissue	23347	SMCHD1	ORPHA:2250
HP:0003549	Abnormality of connective tissue	1656	DDX6	OMIM:618653
HP:0003549	Abnormality of connective tissue	1501	CTNND2	ORPHA:281
HP:0003549	Abnormality of connective tissue	9037	SEMA5A	ORPHA:281
HP:0003549	Abnormality of connective tissue	5337	PLD1	OMIM:212093
HP:0003549	Abnormality of connective tissue	339983	NAT8L	OMIM:614063
HP:0003549	Abnormality of connective tissue	54914	FOCAD	OMIM:619991
HP:0003549	Abnormality of connective tissue	5048	PAFAH1B1	ORPHA:217385
HP:0003549	Abnormality of connective tissue	7531	YWHAE	ORPHA:217385
HP:0003549	Abnormality of connective tissue	9091	PIGQ	OMIM:618548
HP:0003549	Abnormality of connective tissue	2542	SLC37A4	OMIM:619525
HP:0003549	Abnormality of connective tissue	9993	DGCR2	OMIM:192430
HP:0003549	Abnormality of connective tissue	8220	ESS2	OMIM:192430
HP:0003549	Abnormality of connective tissue	8214	DGCR6	OMIM:192430
HP:0003549	Abnormality of connective tissue	54487	DGCR8	OMIM:192430
HP:0003549	Abnormality of connective tissue	6899	TBX1	OMIM:192430
HP:0003549	Abnormality of connective tissue	6899	TBX1	ORPHA:567
HP:0003549	Abnormality of connective tissue	6899	TBX1	OMIM:188400
HP:0003549	Abnormality of connective tissue	79989	IFT56	OMIM:619534
HP:0003549	Abnormality of connective tissue	284098	PIGW	OMIM:616025
HP:0003549	Abnormality of connective tissue	4851	NOTCH1	OMIM:616028
HP:0003549	Abnormality of connective tissue	10516	FBLN5	ORPHA:90348
HP:0003549	Abnormality of connective tissue	10516	FBLN5	ORPHA:90349
HP:0003549	Abnormality of connective tissue	10516	FBLN5	OMIM:219100
HP:0003549	Abnormality of connective tissue	2720	GLB1	OMIM:230500
HP:0003549	Abnormality of connective tissue	2720	GLB1	OMIM:253010
HP:0003549	Abnormality of connective tissue	4052	LTBP1	ORPHA:90349
HP:0003549	Abnormality of connective tissue	4052	LTBP1	OMIM:619451
HP:0003549	Abnormality of connective tissue	8295	TRRAP	OMIM:618454
HP:0003549	Abnormality of connective tissue	4212	MEIS2	ORPHA:261190
HP:0003549	Abnormality of connective tissue	6448	SGSH	OMIM:252900
HP:0003549	Abnormality of connective tissue	1859	DYRK1A	ORPHA:268261
HP:0003549	Abnormality of connective tissue	10765	KDM5B	OMIM:618109
HP:0003549	Abnormality of connective tissue	6418	SET	OMIM:618106
HP:0003549	Abnormality of connective tissue	79813	EHMT1	ORPHA:96147
HP:0003549	Abnormality of connective tissue	79813	EHMT1	ORPHA:261652
HP:0003549	Abnormality of connective tissue	2627	GATA6	OMIM:600001
HP:0003549	Abnormality of connective tissue	374654	KIF7	ORPHA:36
HP:0003549	Abnormality of connective tissue	374654	KIF7	OMIM:200990
HP:0003549	Abnormality of connective tissue	374654	KIF7	OMIM:607131
HP:0003549	Abnormality of connective tissue	5515	PPP2CA	OMIM:618354
HP:0003549	Abnormality of connective tissue	4125	MAN2B1	OMIM:248500
HP:0003549	Abnormality of connective tissue	6601	SMARCC2	OMIM:618362
HP:0003549	Abnormality of connective tissue	1312	COMT	ORPHA:567
HP:0003549	Abnormality of connective tissue	221037	JMJD1C	ORPHA:567
HP:0003549	Abnormality of connective tissue	2812	GP1BB	ORPHA:567
HP:0003549	Abnormality of connective tissue	6239	RREB1	ORPHA:567
HP:0003549	Abnormality of connective tissue	7290	HIRA	ORPHA:567
HP:0003549	Abnormality of connective tissue	9632	SEC24C	ORPHA:567
HP:0003549	Abnormality of connective tissue	7353	UFD1	ORPHA:567
HP:0003549	Abnormality of connective tissue	421	ARVCF	ORPHA:567
HP:0003549	Abnormality of connective tissue	22827	PUF60	ORPHA:508488
HP:0003549	Abnormality of connective tissue	27031	NPHP3	OMIM:267010
HP:0003549	Abnormality of connective tissue	6935	ZEB1	OMIM:609141
HP:0003549	Abnormality of connective tissue	10283	CWC27	ORPHA:166035
HP:0003549	Abnormality of connective tissue	8720	MBTPS1	OMIM:618392
HP:0003549	Abnormality of connective tissue	23405	DICER1	OMIM:618272
HP:0003549	Abnormality of connective tissue	1457	CSNK2A1	OMIM:617062
HP:0003549	Abnormality of connective tissue	23112	TNRC6B	OMIM:619243
HP:0003549	Abnormality of connective tissue	10220	GDF11	OMIM:619122
HP:0003549	Abnormality of connective tissue	2799	GNS	OMIM:252940
HP:0003549	Abnormality of connective tissue	149461	CLDN19	ORPHA:2196
HP:0003549	Abnormality of connective tissue	875	CBS	OMIM:236200
HP:0003549	Abnormality of connective tissue	9897	WASHC5	ORPHA:7
HP:0003549	Abnormality of connective tissue	9652	SKIC3	ORPHA:84064
HP:0003549	Abnormality of connective tissue	6499	SKIC2	ORPHA:84064
HP:0003549	Abnormality of connective tissue	5518	PPP2R1A	ORPHA:457284
HP:0003549	Abnormality of connective tissue	29969	MDFIC	OMIM:620014
HP:0003549	Abnormality of connective tissue	871	SERPINH1	OMIM:613848
HP:0003549	Abnormality of connective tissue	168667	BMPER	OMIM:608022
HP:0003549	Abnormality of connective tissue	4702	NDUFA8	OMIM:619272
HP:0003549	Abnormality of connective tissue	10128	LRPPRC	OMIM:220111
HP:0003549	Abnormality of connective tissue	55503	TRPV6	OMIM:618188
HP:0003549	Abnormality of connective tissue	2904	GRIN2B	OMIM:613970
HP:0003549	Abnormality of connective tissue	57539	WDR35	OMIM:613610
HP:0003549	Abnormality of connective tissue	145173	B3GLCT	ORPHA:709
HP:0003549	Abnormality of connective tissue	123263	MTFMT	OMIM:614947
HP:0003549	Abnormality of connective tissue	4774	NFIA	OMIM:613735
HP:0003549	Abnormality of connective tissue	4758	NEU1	OMIM:256550
HP:0003549	Abnormality of connective tissue	4758	NEU1	ORPHA:93399
HP:0003549	Abnormality of connective tissue	4758	NEU1	ORPHA:93400
HP:0003549	Abnormality of connective tissue	10093	ARPC4	OMIM:620141
HP:0003549	Abnormality of connective tissue	4281	MID1	OMIM:300000
HP:0003549	Abnormality of connective tissue	4281	MID1	ORPHA:2745
HP:0003549	Abnormality of connective tissue	6197	RPS6KA3	OMIM:303600
HP:0003549	Abnormality of connective tissue	92579	G6PC3	OMIM:612541
HP:0003549	Abnormality of connective tissue	8289	ARID1A	OMIM:614607
HP:0003549	Abnormality of connective tissue	6598	SMARCB1	OMIM:614608
HP:0003549	Abnormality of connective tissue	25942	SIN3A	OMIM:613406
HP:0003549	Abnormality of connective tissue	175	AGA	ORPHA:93
HP:0003549	Abnormality of connective tissue	5826	ABCD4	OMIM:614857
HP:0003549	Abnormality of connective tissue	699	BUB1	OMIM:620183
HP:0003549	Abnormality of connective tissue	197257	LDHD	OMIM:245450
HP:0003549	Abnormality of connective tissue	6804	STX1A	ORPHA:904
HP:0003549	Abnormality of connective tissue	7461	CLIP2	ORPHA:904
HP:0003549	Abnormality of connective tissue	84277	DNAJC30	ORPHA:904
HP:0003549	Abnormality of connective tissue	8468	FKBP6	ORPHA:904
HP:0003549	Abnormality of connective tissue	5982	RFC2	ORPHA:904
HP:0003549	Abnormality of connective tissue	2969	GTF2I	ORPHA:904
HP:0003549	Abnormality of connective tissue	3984	LIMK1	ORPHA:904
HP:0003549	Abnormality of connective tissue	9569	GTF2IRD1	ORPHA:904
HP:0003549	Abnormality of connective tissue	155382	VPS37D	ORPHA:904
HP:0003549	Abnormality of connective tissue	155368	METTL27	ORPHA:904
HP:0003549	Abnormality of connective tissue	114049	BUD23	ORPHA:904
HP:0003549	Abnormality of connective tissue	7458	EIF4H	ORPHA:904
HP:0003549	Abnormality of connective tissue	84163	GTF2IRD2	ORPHA:904
HP:0003549	Abnormality of connective tissue	9275	BCL7B	ORPHA:904
HP:0003549	Abnormality of connective tissue	26608	TBL2	ORPHA:904
HP:0003549	Abnormality of connective tissue	653361	NCF1	ORPHA:904
HP:0003549	Abnormality of connective tissue	135886	TMEM270	ORPHA:904
HP:0003549	Abnormality of connective tissue	9031	BAZ1B	ORPHA:904
HP:0003549	Abnormality of connective tissue	10056	FARSB	OMIM:613658
HP:0003549	Abnormality of connective tissue	54499	TMCO1	OMIM:213980
HP:0003549	Abnormality of connective tissue	10907	TXNL4A	OMIM:608572
HP:0003549	Abnormality of connective tissue	58508	KMT2C	ORPHA:261652
HP:0003549	Abnormality of connective tissue	3481	IGF2	ORPHA:397590
HP:0003549	Abnormality of connective tissue	3481	IGF2	ORPHA:2128
HP:0003549	Abnormality of connective tissue	1028	CDKN1C	ORPHA:397590
HP:0003549	Abnormality of connective tissue	5324	PLAG1	ORPHA:397590
HP:0003549	Abnormality of connective tissue	8091	HMGA2	ORPHA:397590
HP:0003549	Abnormality of connective tissue	10984	KCNQ1OT1	ORPHA:2128
HP:0003549	Abnormality of connective tissue	283120	H19	ORPHA:2128
HP:0003549	Abnormality of connective tissue	55690	PACS1	ORPHA:329224
HP:0003549	Abnormality of connective tissue	10847	SRCAP	OMIM:136140
HP:0003549	Abnormality of connective tissue	23291	FBXW11	OMIM:618914
HP:0003549	Abnormality of connective tissue	4953	ODC1	ORPHA:544488
HP:0003549	Abnormality of connective tissue	55033	FKBP14	OMIM:614557
HP:0003549	Abnormality of connective tissue	2187	FANCB	ORPHA:3412
HP:0003549	Abnormality of connective tissue	2657	GDF1	OMIM:208530
HP:0003549	Abnormality of connective tissue	367	AR	OMIM:300068
HP:0003549	Abnormality of connective tissue	8884	SLC5A6	OMIM:619903
HP:0003549	Abnormality of connective tissue	2626	GATA4	OMIM:615542
HP:0003549	Abnormality of connective tissue	56623	INPP5E	ORPHA:1454
HP:0003549	Abnormality of connective tissue	91147	TMEM67	ORPHA:1454
HP:0003549	Abnormality of connective tissue	23322	RPGRIP1L	ORPHA:1454
HP:0003549	Abnormality of connective tissue	57545	CC2D2A	ORPHA:1454
HP:0003549	Abnormality of connective tissue	6785	ELOVL4	OMIM:614457
HP:0003549	Abnormality of connective tissue	2313	FLI1	ORPHA:2308
HP:0003549	Abnormality of connective tissue	10664	CTCF	ORPHA:363611
HP:0003549	Abnormality of connective tissue	2588	GALNS	OMIM:253000
HP:0003549	Abnormality of connective tissue	55617	TASP1	OMIM:618950
HP:0003549	Abnormality of connective tissue	7518	XRCC4	OMIM:616541
HP:0003549	Abnormality of connective tissue	10020	GNE	OMIM:269921
HP:0003549	Abnormality of connective tissue	51780	KDM3B	OMIM:618846
HP:0003549	Abnormality of connective tissue	5430	POLR2A	OMIM:618603
HP:0003549	Abnormality of connective tissue	26229	B3GAT3	OMIM:245600
HP:0003549	Abnormality of connective tissue	57728	WDR19	OMIM:614376
HP:0003549	Abnormality of connective tissue	203068	TUBB	ORPHA:2505
HP:0003549	Abnormality of connective tissue	10982	MAPRE2	ORPHA:2505
HP:0003549	Abnormality of connective tissue	221927	BRAT1	OMIM:614498
HP:0003549	Abnormality of connective tissue	63924	CIDEC	ORPHA:435651
HP:0003549	Abnormality of connective tissue	5468	PPARG	ORPHA:79083
HP:0003549	Abnormality of connective tissue	5422	POLA1	OMIM:301220
HP:0003549	Abnormality of connective tissue	85446	ZFHX2	OMIM:147430
HP:0003549	Abnormality of connective tissue	59335	PRDM12	OMIM:616488
HP:0003549	Abnormality of connective tissue	4358	MPV17	OMIM:256810
HP:0003549	Abnormality of connective tissue	7045	TGFBI	OMIM:602082
HP:0003549	Abnormality of connective tissue	7045	TGFBI	ORPHA:98964
HP:0003549	Abnormality of connective tissue	4990	SIX6	OMIM:212550
HP:0003549	Abnormality of connective tissue	79955	PDZD7	ORPHA:231178
HP:0003549	Abnormality of connective tissue	4647	MYO7A	ORPHA:231178
HP:0003549	Abnormality of connective tissue	4647	MYO7A	ORPHA:231169
HP:0003549	Abnormality of connective tissue	25861	WHRN	ORPHA:231178
HP:0003549	Abnormality of connective tissue	84059	ADGRV1	ORPHA:231178
HP:0003549	Abnormality of connective tissue	9401	RECQL4	ORPHA:221016
HP:0003549	Abnormality of connective tissue	9820	CUL7	ORPHA:2616
HP:0003549	Abnormality of connective tissue	23363	OBSL1	ORPHA:2616
HP:0003549	Abnormality of connective tissue	83987	CCDC8	ORPHA:2616
HP:0003549	Abnormality of connective tissue	84172	POLR1B	ORPHA:861
HP:0003549	Abnormality of connective tissue	9533	POLR1C	ORPHA:861
HP:0003549	Abnormality of connective tissue	51082	POLR1D	ORPHA:861
HP:0003549	Abnormality of connective tissue	6949	TCOF1	ORPHA:861
HP:0003549	Abnormality of connective tissue	63916	ELMO2	ORPHA:3019
HP:0003549	Abnormality of connective tissue	6905	TBCE	ORPHA:2323
HP:0003549	Abnormality of connective tissue	1717	DHCR7	ORPHA:818
HP:0003549	Abnormality of connective tissue	5818	NECTIN1	ORPHA:3253
HP:0003549	Abnormality of connective tissue	112752	IFT43	ORPHA:1515
HP:0003549	Abnormality of connective tissue	51098	IFT52	ORPHA:1515
HP:0003549	Abnormality of connective tissue	8792	TNFRSF11A	ORPHA:1782
HP:0003549	Abnormality of connective tissue	1062	CENPE	ORPHA:808
HP:0003549	Abnormality of connective tissue	5932	RBBP8	ORPHA:808
HP:0003549	Abnormality of connective tissue	79902	NUP85	ORPHA:808
HP:0003549	Abnormality of connective tissue	84126	ATRIP	ORPHA:808
HP:0003549	Abnormality of connective tissue	55835	CENPJ	ORPHA:808
HP:0003549	Abnormality of connective tissue	10293	TRAIP	ORPHA:808
HP:0003549	Abnormality of connective tissue	10733	PLK4	ORPHA:808
HP:0003549	Abnormality of connective tissue	2248	FGF3	ORPHA:2791
HP:0003549	Abnormality of connective tissue	54539	NDUFB11	ORPHA:2556
HP:0003549	Abnormality of connective tissue	1349	COX7B	ORPHA:2556
HP:0003549	Abnormality of connective tissue	3052	HCCS	ORPHA:2556
HP:0003549	Abnormality of connective tissue	3265	HRAS	ORPHA:3071
HP:0003549	Abnormality of connective tissue	10083	USH1C	ORPHA:231169
HP:0003549	Abnormality of connective tissue	124590	USH1G	ORPHA:231169
HP:0003549	Abnormality of connective tissue	83715	ESPN	ORPHA:231169
HP:0003549	Abnormality of connective tissue	10518	CIB2	ORPHA:231169
HP:0003549	Abnormality of connective tissue	65217	PCDH15	ORPHA:231169
HP:0003549	Abnormality of connective tissue	5144	PDE4D	ORPHA:439822
HP:0003549	Abnormality of connective tissue	84818	IL17RC	ORPHA:1334
HP:0003549	Abnormality of connective tissue	64581	CLEC7A	ORPHA:1334
HP:0003549	Abnormality of connective tissue	23765	IL17RA	ORPHA:1334
HP:0003549	Abnormality of connective tissue	10758	TRAF3IP2	ORPHA:1334
HP:0003549	Abnormality of connective tissue	112744	IL17F	ORPHA:1334
HP:0003549	Abnormality of connective tissue	64682	ANAPC1	ORPHA:221008
HP:0003549	Abnormality of connective tissue	9321	TRIP11	ORPHA:166272
HP:0003549	Abnormality of connective tissue	9321	TRIP11	OMIM:184260
HP:0003549	Abnormality of connective tissue	79879	CCDC134	OMIM:619795
HP:0003549	Abnormality of connective tissue	5034	P4HB	OMIM:112240
HP:0003549	Abnormality of connective tissue	10491	CRTAP	OMIM:610682
HP:0003549	Abnormality of connective tissue	5479	PPIB	OMIM:259440
HP:0003549	Abnormality of connective tissue	6678	SPARC	OMIM:616507
HP:0003549	Abnormality of connective tissue	387733	IFITM5	OMIM:610967
HP:0003549	Abnormality of connective tissue	9871	SEC24D	OMIM:616294
HP:0003549	Abnormality of connective tissue	375056	MIA3	OMIM:619269
HP:0003549	Abnormality of connective tissue	5176	SERPINF1	OMIM:613982
HP:0003549	Abnormality of connective tissue	649	BMP1	OMIM:614856
HP:0003549	Abnormality of connective tissue	121340	SP7	OMIM:613849
HP:0003549	Abnormality of connective tissue	54757	FAM20A	OMIM:204690
HP:0003549	Abnormality of connective tissue	54757	FAM20A	ORPHA:1031
HP:0003549	Abnormality of connective tissue	6603	SMARCD2	OMIM:617475
HP:0003549	Abnormality of connective tissue	84876	ORAI1	OMIM:612782
HP:0003549	Abnormality of connective tissue	286077	FAM83H	OMIM:130900
HP:0003549	Abnormality of connective tissue	55858	TMEM165	OMIM:614727
HP:0003549	Abnormality of connective tissue	284111	SLC13A5	ORPHA:1946
HP:0003549	Abnormality of connective tissue	284111	SLC13A5	OMIM:615905
HP:0003549	Abnormality of connective tissue	9313	MMP20	OMIM:612529
HP:0003549	Abnormality of connective tissue	4054	LTBP3	OMIM:601216
HP:0003549	Abnormality of connective tissue	26504	CNNM4	ORPHA:1873
HP:0003549	Abnormality of connective tissue	123041	SLC24A4	OMIM:615887
HP:0003549	Abnormality of connective tissue	10262	SF3B4	OMIM:154400
HP:0003549	Abnormality of connective tissue	23414	ZFPM2	OMIM:610187
HP:0003549	Abnormality of connective tissue	23414	ZFPM2	ORPHA:2140
HP:0003549	Abnormality of connective tissue	55784	MCTP2	ORPHA:1596
HP:0003549	Abnormality of connective tissue	8085	KMT2D	ORPHA:2322
HP:0003549	Abnormality of connective tissue	7403	KDM6A	ORPHA:2322
HP:0003549	Abnormality of connective tissue	5915	RARB	OMIM:615524
HP:0003549	Abnormality of connective tissue	5915	RARB	ORPHA:2470
HP:0003549	Abnormality of connective tissue	51132	RLIM	OMIM:300978
HP:0003549	Abnormality of connective tissue	51434	ANAPC7	OMIM:619699
HP:0003549	Abnormality of connective tissue	4330	MN1	OMIM:618774
HP:0003549	Abnormality of connective tissue	6234	RPS28	OMIM:606164
HP:0003549	Abnormality of connective tissue	23476	BRD4	ORPHA:199
HP:0003549	Abnormality of connective tissue	9126	SMC3	ORPHA:199
HP:0003549	Abnormality of connective tissue	55869	HDAC8	ORPHA:199
HP:0003549	Abnormality of connective tissue	79971	WLS	OMIM:619648
HP:0003549	Abnormality of connective tissue	745	MYRF	OMIM:618280
HP:0003549	Abnormality of connective tissue	9786	KIAA0586	OMIM:616546
HP:0003549	Abnormality of connective tissue	7473	WNT3	OMIM:273395
HP:0003549	Abnormality of connective tissue	54361	WNT4	OMIM:611812
HP:0003549	Abnormality of connective tissue	54361	WNT4	ORPHA:139466
HP:0003549	Abnormality of connective tissue	25970	SH2B1	ORPHA:261197
HP:0003549	Abnormality of connective tissue	5087	PBX1	OMIM:617641
HP:0003549	Abnormality of connective tissue	6557	SLC12A1	OMIM:601678
HP:0003549	Abnormality of connective tissue	486	FXYD2	OMIM:154020
HP:0003549	Abnormality of connective tissue	3758	KCNJ1	OMIM:241200
HP:0003549	Abnormality of connective tissue	4210	MEFV	ORPHA:329967
HP:0003549	Abnormality of connective tissue	7132	TNFRSF1A	ORPHA:329967
HP:0003549	Abnormality of connective tissue	249	ALPL	OMIM:146300
HP:0003549	Abnormality of connective tissue	6559	SLC12A3	OMIM:263800
HP:0003549	Abnormality of connective tissue	6559	SLC12A3	ORPHA:358
HP:0003549	Abnormality of connective tissue	9247	GCM2	ORPHA:99879
HP:0003549	Abnormality of connective tissue	540	ATP7B	OMIM:277900
HP:0003549	Abnormality of connective tissue	1188	CLCNKB	ORPHA:358
HP:0003549	Abnormality of connective tissue	4982	TNFRSF11B	ORPHA:1416
HP:0003549	Abnormality of connective tissue	56172	ANKH	ORPHA:1416
HP:0003549	Abnormality of connective tissue	3373	HYAL1	OMIM:601492
HP:0003549	Abnormality of connective tissue	11285	B4GALT7	ORPHA:75496
HP:0003549	Abnormality of connective tissue	92840	REEP6	ORPHA:791
HP:0003549	Abnormality of connective tissue	6094	ROM1	ORPHA:791
HP:0003549	Abnormality of connective tissue	6017	RLBP1	ORPHA:791
HP:0003549	Abnormality of connective tissue	7401	CLRN1	ORPHA:791
HP:0003549	Abnormality of connective tissue	24	ABCA4	ORPHA:791
HP:0003549	Abnormality of connective tissue	130557	ZNF513	ORPHA:791
HP:0003549	Abnormality of connective tissue	582	BBS1	ORPHA:791
HP:0003549	Abnormality of connective tissue	92211	CDHR1	ORPHA:791
HP:0003549	Abnormality of connective tissue	23568	ARL2BP	ORPHA:791
HP:0003549	Abnormality of connective tissue	6121	RPE65	ORPHA:791
HP:0003549	Abnormality of connective tissue	54806	AHI1	ORPHA:791
HP:0003549	Abnormality of connective tissue	6101	RP1	ORPHA:791
HP:0003549	Abnormality of connective tissue	3419	IDH3A	ORPHA:791
HP:0003549	Abnormality of connective tissue	4751	NEK2	ORPHA:791
HP:0003549	Abnormality of connective tissue	346007	EYS	ORPHA:791
HP:0003549	Abnormality of connective tissue	8100	IFT88	ORPHA:791
HP:0003549	Abnormality of connective tissue	23020	SNRNP200	ORPHA:791
HP:0003549	Abnormality of connective tissue	762	CA4	ORPHA:791
HP:0003549	Abnormality of connective tissue	138050	HGSNAT	ORPHA:791
HP:0003549	Abnormality of connective tissue	196	AHR	ORPHA:791
HP:0003549	Abnormality of connective tissue	3614	IMPDH1	ORPHA:791
HP:0003549	Abnormality of connective tissue	123016	TTC8	ORPHA:791
HP:0003549	Abnormality of connective tissue	6103	RPGR	ORPHA:791
HP:0003549	Abnormality of connective tissue	1406	CRX	ORPHA:791
HP:0003549	Abnormality of connective tissue	5148	PDE6G	ORPHA:791
HP:0003549	Abnormality of connective tissue	26160	IFT172	ORPHA:791
HP:0003549	Abnormality of connective tissue	26121	PRPF31	ORPHA:791
HP:0003549	Abnormality of connective tissue	583	BBS2	ORPHA:791
HP:0003549	Abnormality of connective tissue	4117	MAK	ORPHA:791
HP:0003549	Abnormality of connective tissue	25794	FSCN2	ORPHA:791
HP:0003549	Abnormality of connective tissue	375298	CERKL	ORPHA:791
HP:0003549	Abnormality of connective tissue	3420	IDH3B	ORPHA:791
HP:0003549	Abnormality of connective tissue	57670	KIAA1549	ORPHA:791
HP:0003549	Abnormality of connective tissue	7275	TUB	ORPHA:791
HP:0003549	Abnormality of connective tissue	24148	PRPF6	ORPHA:791
HP:0003549	Abnormality of connective tissue	23418	CRB1	ORPHA:791
HP:0003549	Abnormality of connective tissue	10461	MERTK	ORPHA:791
HP:0003549	Abnormality of connective tissue	57709	SLC7A14	ORPHA:791
HP:0003549	Abnormality of connective tissue	768206	PRCD	ORPHA:791
HP:0003549	Abnormality of connective tissue	7399	USH2A	ORPHA:791
HP:0003549	Abnormality of connective tissue	23370	ARHGEF18	ORPHA:791
HP:0003549	Abnormality of connective tissue	5949	RBP3	ORPHA:791
HP:0003549	Abnormality of connective tissue	6010	RHO	ORPHA:791
HP:0003549	Abnormality of connective tissue	6100	RP9	ORPHA:791
HP:0003549	Abnormality of connective tissue	10002	NR2E3	ORPHA:791
HP:0003549	Abnormality of connective tissue	9227	LRAT	ORPHA:791
HP:0003549	Abnormality of connective tissue	84140	FAM161A	ORPHA:791
HP:0003549	Abnormality of connective tissue	55812	SPATA7	ORPHA:791
HP:0003549	Abnormality of connective tissue	55624	POMGNT1	ORPHA:791
HP:0003549	Abnormality of connective tissue	79797	ZNF408	ORPHA:791
HP:0003549	Abnormality of connective tissue	403	ARL3	ORPHA:791
HP:0003549	Abnormality of connective tissue	5145	PDE6A	ORPHA:791
HP:0003549	Abnormality of connective tissue	10210	TOPORS	ORPHA:791
HP:0003549	Abnormality of connective tissue	8842	PROM1	ORPHA:791
HP:0003549	Abnormality of connective tissue	9128	PRPF4	ORPHA:791
HP:0003549	Abnormality of connective tissue	145226	RDH12	ORPHA:791
HP:0003549	Abnormality of connective tissue	50939	IMPG2	ORPHA:791
HP:0003549	Abnormality of connective tissue	49855	SCAPER	ORPHA:791
HP:0003549	Abnormality of connective tissue	9742	IFT140	ORPHA:791
HP:0003549	Abnormality of connective tissue	2979	GUCA1B	ORPHA:791
HP:0003549	Abnormality of connective tissue	1259	CNGA1	ORPHA:791
HP:0003549	Abnormality of connective tissue	1258	CNGB1	ORPHA:791
HP:0003549	Abnormality of connective tissue	60509	AGBL5	ORPHA:791
HP:0003549	Abnormality of connective tissue	5961	PRPH2	ORPHA:791
HP:0003549	Abnormality of connective tissue	388939	PCARE	ORPHA:791
HP:0003549	Abnormality of connective tissue	7439	BEST1	ORPHA:791
HP:0003549	Abnormality of connective tissue	9785	DHX38	ORPHA:791
HP:0003549	Abnormality of connective tissue	7287	TULP1	ORPHA:791
HP:0003549	Abnormality of connective tissue	5995	RGR	ORPHA:791
HP:0003549	Abnormality of connective tissue	9129	PRPF3	ORPHA:791
HP:0003549	Abnormality of connective tissue	55975	KLHL7	ORPHA:791
HP:0003549	Abnormality of connective tissue	3617	IMPG1	ORPHA:791
HP:0003549	Abnormality of connective tissue	94137	RP1L1	ORPHA:791
HP:0003549	Abnormality of connective tissue	5158	PDE6B	ORPHA:791
HP:0003549	Abnormality of connective tissue	6102	RP2	ORPHA:791
HP:0003549	Abnormality of connective tissue	55857	KIZ	ORPHA:791
HP:0003549	Abnormality of connective tissue	64218	SEMA4A	ORPHA:791
HP:0003549	Abnormality of connective tissue	4901	NRL	ORPHA:791
HP:0003549	Abnormality of connective tissue	157657	CFAP418	ORPHA:791
HP:0003549	Abnormality of connective tissue	10594	PRPF8	ORPHA:791
HP:0003549	Abnormality of connective tissue	84100	ARL6	ORPHA:791
HP:0003549	Abnormality of connective tissue	6295	SAG	ORPHA:791
HP:0003549	Abnormality of connective tissue	79947	DHDDS	ORPHA:791
HP:0003549	Abnormality of connective tissue	1281	COL3A1	OMIM:618343
HP:0003549	Abnormality of connective tissue	716	C1S	OMIM:617174
HP:0003549	Abnormality of connective tissue	84627	ZNF469	OMIM:229200
HP:0003549	Abnormality of connective tissue	2050	EPHB4	ORPHA:90186
HP:0003549	Abnormality of connective tissue	7020	TFAP2A	OMIM:113620
HP:0003549	Abnormality of connective tissue	7020	TFAP2A	ORPHA:1297
HP:0003549	Abnormality of connective tissue	4914	NTRK1	ORPHA:642
HP:0003549	Abnormality of connective tissue	23385	NCSTN	OMIM:142690
HP:0003549	Abnormality of connective tissue	1371	CPOX	ORPHA:79273
HP:0003549	Abnormality of connective tissue	4558	MT-TF	ORPHA:551
HP:0003549	Abnormality of connective tissue	4567	MT-TL1	ORPHA:551
HP:0003549	Abnormality of connective tissue	4549	MT-RNR1	ORPHA:551
HP:0003549	Abnormality of connective tissue	4574	MT-TS1	ORPHA:551
HP:0003549	Abnormality of connective tissue	4575	MT-TS2	ORPHA:551
HP:0003549	Abnormality of connective tissue	4571	MT-TP	ORPHA:551
HP:0003549	Abnormality of connective tissue	4572	MT-TQ	ORPHA:551
HP:0003549	Abnormality of connective tissue	4540	MT-ND5	ORPHA:551
HP:0003549	Abnormality of connective tissue	4566	MT-TK	ORPHA:551
HP:0003549	Abnormality of connective tissue	4566	MT-TK	ORPHA:1349
HP:0003549	Abnormality of connective tissue	4564	MT-TH	ORPHA:551
HP:0003549	Abnormality of connective tissue	1026	CDKN1A	ORPHA:652
HP:0003549	Abnormality of connective tissue	1030	CDKN2B	ORPHA:652
HP:0003549	Abnormality of connective tissue	1031	CDKN2C	ORPHA:652
HP:0003549	Abnormality of connective tissue	55154	MSTO1	OMIM:617675
HP:0003549	Abnormality of connective tissue	161742	SPRED1	OMIM:611431
HP:0003549	Abnormality of connective tissue	161742	SPRED1	ORPHA:137605
HP:0003549	Abnormality of connective tissue	9927	MFN2	ORPHA:2398
HP:0003549	Abnormality of connective tissue	3845	KRAS	ORPHA:2396
HP:0003549	Abnormality of connective tissue	57216	VANGL2	OMIM:182940
HP:0003549	Abnormality of connective tissue	6347	CCL2	OMIM:182940
HP:0003549	Abnormality of connective tissue	81839	VANGL1	OMIM:182940
HP:0003549	Abnormality of connective tissue	6862	TBXT	OMIM:182940
HP:0003549	Abnormality of connective tissue	80199	FUZ	OMIM:182940
HP:0003549	Abnormality of connective tissue	201163	FLCN	ORPHA:122
HP:0003549	Abnormality of connective tissue	201163	FLCN	OMIM:135150
HP:0003549	Abnormality of connective tissue	284252	KCTD1	OMIM:181270
HP:0003549	Abnormality of connective tissue	1175	AP2S1	OMIM:600740
HP:0003549	Abnormality of connective tissue	2767	GNA11	OMIM:145981
HP:0003549	Abnormality of connective tissue	5167	ENPP1	ORPHA:758
HP:0003549	Abnormality of connective tissue	368	ABCC6	ORPHA:758
HP:0003549	Abnormality of connective tissue	5728	PTEN	OMIM:158350
HP:0003549	Abnormality of connective tissue	5728	PTEN	ORPHA:2969
HP:0003549	Abnormality of connective tissue	5728	PTEN	ORPHA:79076
HP:0003549	Abnormality of connective tissue	4221	MEN1	OMIM:131100
HP:0003549	Abnormality of connective tissue	5290	PIK3CA	OMIM:615108
HP:0003549	Abnormality of connective tissue	207	AKT1	OMIM:615109
HP:0003549	Abnormality of connective tissue	657	BMPR1A	ORPHA:79076
HP:0003549	Abnormality of connective tissue	1027	CDKN1B	ORPHA:276152
HP:0003549	Abnormality of connective tissue	1075	CTSC	ORPHA:678
HP:0003549	Abnormality of connective tissue	4035	LRP1	ORPHA:79100
HP:0003549	Abnormality of connective tissue	146206	CARMIL2	OMIM:618131
HP:0003549	Abnormality of connective tissue	64093	SMOC1	OMIM:206920
HP:0003549	Abnormality of connective tissue	64093	SMOC1	ORPHA:1106
HP:0003549	Abnormality of connective tissue	57863	CADM3	OMIM:619519
HP:0003549	Abnormality of connective tissue	64374	SIL1	OMIM:248800
HP:0003549	Abnormality of connective tissue	3763	KCNJ6	ORPHA:435628
HP:0003549	Abnormality of connective tissue	3763	KCNJ6	OMIM:614098
HP:0003549	Abnormality of connective tissue	9131	AIFM1	OMIM:300232
HP:0003549	Abnormality of connective tissue	2895	GRID2	OMIM:616204
HP:0003549	Abnormality of connective tissue	775	CACNA1C	OMIM:620029
HP:0003549	Abnormality of connective tissue	4047	LSS	ORPHA:2850
HP:0003549	Abnormality of connective tissue	197	AHSG	ORPHA:2850
HP:0003549	Abnormality of connective tissue	29072	SETD2	ORPHA:821
HP:0003549	Abnormality of connective tissue	10297	APC2	ORPHA:821
HP:0003549	Abnormality of connective tissue	5447	POR	ORPHA:95699
HP:0003549	Abnormality of connective tissue	5447	POR	OMIM:207410
HP:0003549	Abnormality of connective tissue	4072	EPCAM	ORPHA:144
HP:0003549	Abnormality of connective tissue	4292	MLH1	ORPHA:144
HP:0003549	Abnormality of connective tissue	5395	PMS2	ORPHA:144
HP:0003549	Abnormality of connective tissue	27030	MLH3	ORPHA:144
HP:0003549	Abnormality of connective tissue	22909	FAN1	ORPHA:144
HP:0003549	Abnormality of connective tissue	2956	MSH6	ORPHA:144
HP:0003549	Abnormality of connective tissue	5378	PMS1	ORPHA:144
HP:0003549	Abnormality of connective tissue	4436	MSH2	ORPHA:144
HP:0003549	Abnormality of connective tissue	6775	STAT4	ORPHA:85408
HP:0003549	Abnormality of connective tissue	3560	IL2RB	ORPHA:85408
HP:0003549	Abnormality of connective tissue	79722	ANKRD55	ORPHA:85408
HP:0003549	Abnormality of connective tissue	26191	PTPN22	ORPHA:85408
HP:0003549	Abnormality of connective tissue	919	CD247	ORPHA:85408
HP:0003549	Abnormality of connective tissue	3559	IL2RA	ORPHA:85408
HP:0003549	Abnormality of connective tissue	5771	PTPN2	ORPHA:85408
HP:0003549	Abnormality of connective tissue	8443	GNPAT	OMIM:222765
HP:0003549	Abnormality of connective tissue	3020	H3-3A	OMIM:619720
HP:0003549	Abnormality of connective tissue	6224	RPS20	ORPHA:440437
HP:0003549	Abnormality of connective tissue	65082	VPS33A	OMIM:617303
HP:0003549	Abnormality of connective tissue	65082	VPS33A	ORPHA:505248
HP:0003549	Abnormality of connective tissue	84197	POMK	OMIM:615249
HP:0003549	Abnormality of connective tissue	128486	FITM2	OMIM:618635
HP:0003549	Abnormality of connective tissue	23431	AP4E1	OMIM:613744
HP:0003549	Abnormality of connective tissue	3908	LAMA2	ORPHA:258
HP:0003549	Abnormality of connective tissue	3908	LAMA2	OMIM:607855
HP:0003549	Abnormality of connective tissue	1798	DPAGT1	ORPHA:353327
HP:0003549	Abnormality of connective tissue	1798	DPAGT1	ORPHA:86309
HP:0003549	Abnormality of connective tissue	1798	DPAGT1	OMIM:608093
HP:0003549	Abnormality of connective tissue	85365	ALG2	ORPHA:353327
HP:0003549	Abnormality of connective tissue	54332	GDAP1	OMIM:607706
HP:0003549	Abnormality of connective tissue	54332	GDAP1	ORPHA:101097
HP:0003549	Abnormality of connective tissue	23250	ATP11A	OMIM:619851
HP:0003549	Abnormality of connective tissue	7345	UCHL1	OMIM:615491
HP:0003549	Abnormality of connective tissue	274	BIN1	OMIM:255200
HP:0003549	Abnormality of connective tissue	50814	NSDHL	OMIM:308050
HP:0003549	Abnormality of connective tissue	1889	ECE1	OMIM:613870
HP:0003549	Abnormality of connective tissue	55157	DARS2	ORPHA:137898
HP:0003549	Abnormality of connective tissue	55157	DARS2	OMIM:611105
HP:0003549	Abnormality of connective tissue	8560	DEGS1	OMIM:618404
HP:0003549	Abnormality of connective tissue	6445	SGCG	OMIM:253700
HP:0003549	Abnormality of connective tissue	8398	PLA2G6	ORPHA:35069
HP:0003549	Abnormality of connective tissue	5191	PEX7	OMIM:215100
HP:0003549	Abnormality of connective tissue	3848	KRT1	ORPHA:79503
HP:0003549	Abnormality of connective tissue	56984	PSMG2	OMIM:619183
HP:0003549	Abnormality of connective tissue	9839	ZEB2	ORPHA:261552
HP:0003549	Abnormality of connective tissue	9839	ZEB2	ORPHA:261537
HP:0003549	Abnormality of connective tissue	4633	MYL2	ORPHA:2020
HP:0003549	Abnormality of connective tissue	3679	ITGA7	ORPHA:2020
HP:0003549	Abnormality of connective tissue	9200	HACD1	ORPHA:2020
HP:0003549	Abnormality of connective tissue	51776	MAP3K20	ORPHA:2020
HP:0003549	Abnormality of connective tissue	22872	SEC31A	OMIM:618651
HP:0003549	Abnormality of connective tissue	84314	TMEM107	OMIM:617562
HP:0003549	Abnormality of connective tissue	1641	DCX	ORPHA:2148
HP:0003549	Abnormality of connective tissue	28514	DLL1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	28514	DLL1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	28514	DLL1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	28514	DLL1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	2253	FGF8	ORPHA:93926
HP:0003549	Abnormality of connective tissue	2253	FGF8	ORPHA:93924
HP:0003549	Abnormality of connective tissue	2253	FGF8	ORPHA:93925
HP:0003549	Abnormality of connective tissue	2253	FGF8	ORPHA:220386
HP:0003549	Abnormality of connective tissue	6496	SIX3	ORPHA:93926
HP:0003549	Abnormality of connective tissue	6496	SIX3	ORPHA:93924
HP:0003549	Abnormality of connective tissue	6496	SIX3	ORPHA:93925
HP:0003549	Abnormality of connective tissue	6496	SIX3	ORPHA:220386
HP:0003549	Abnormality of connective tissue	7050	TGIF1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	7050	TGIF1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	7050	TGIF1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	7050	TGIF1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	4838	NODAL	ORPHA:93926
HP:0003549	Abnormality of connective tissue	4838	NODAL	ORPHA:93924
HP:0003549	Abnormality of connective tissue	4838	NODAL	ORPHA:93925
HP:0003549	Abnormality of connective tissue	4838	NODAL	ORPHA:220386
HP:0003549	Abnormality of connective tissue	7546	ZIC2	ORPHA:93926
HP:0003549	Abnormality of connective tissue	7546	ZIC2	ORPHA:93924
HP:0003549	Abnormality of connective tissue	7546	ZIC2	ORPHA:93925
HP:0003549	Abnormality of connective tissue	7546	ZIC2	ORPHA:220386
HP:0003549	Abnormality of connective tissue	6491	STIL	ORPHA:93926
HP:0003549	Abnormality of connective tissue	6491	STIL	ORPHA:93924
HP:0003549	Abnormality of connective tissue	6491	STIL	ORPHA:93925
HP:0003549	Abnormality of connective tissue	6491	STIL	ORPHA:220386
HP:0003549	Abnormality of connective tissue	2619	GAS1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	2619	GAS1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	2619	GAS1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	2619	GAS1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	84976	DISP1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	84976	DISP1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	84976	DISP1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	84976	DISP1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	2736	GLI2	ORPHA:93926
HP:0003549	Abnormality of connective tissue	2736	GLI2	ORPHA:93924
HP:0003549	Abnormality of connective tissue	2736	GLI2	ORPHA:93925
HP:0003549	Abnormality of connective tissue	2736	GLI2	ORPHA:220386
HP:0003549	Abnormality of connective tissue	8928	FOXH1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	8928	FOXH1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	8928	FOXH1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	8928	FOXH1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	5727	PTCH1	ORPHA:93926
HP:0003549	Abnormality of connective tissue	5727	PTCH1	ORPHA:93924
HP:0003549	Abnormality of connective tissue	5727	PTCH1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	5727	PTCH1	ORPHA:220386
HP:0003549	Abnormality of connective tissue	50937	CDON	ORPHA:93926
HP:0003549	Abnormality of connective tissue	50937	CDON	ORPHA:93924
HP:0003549	Abnormality of connective tissue	50937	CDON	ORPHA:93925
HP:0003549	Abnormality of connective tissue	50937	CDON	ORPHA:220386
HP:0003549	Abnormality of connective tissue	4632	MYL1	OMIM:618414
HP:0003549	Abnormality of connective tissue	2752	GLUL	OMIM:610015
HP:0003549	Abnormality of connective tissue	23007	PLCH1	ORPHA:93925
HP:0003549	Abnormality of connective tissue	10735	STAG2	ORPHA:93925
HP:0003549	Abnormality of connective tissue	10735	STAG2	ORPHA:220386
HP:0003549	Abnormality of connective tissue	3782	KCNN3	OMIM:618658
HP:0003549	Abnormality of connective tissue	10717	AP4B1	OMIM:614066
HP:0003549	Abnormality of connective tissue	149371	EXOC8	OMIM:619076
HP:0003549	Abnormality of connective tissue	11154	AP4S1	OMIM:614067
HP:0003549	Abnormality of connective tissue	55699	IARS2	OMIM:616007
HP:0003549	Abnormality of connective tissue	9289	ADGRG1	ORPHA:98889
HP:0003549	Abnormality of connective tissue	27286	SRPX2	ORPHA:98889
HP:0003549	Abnormality of connective tissue	26137	ZBTB20	OMIM:259050
HP:0003549	Abnormality of connective tissue	26137	ZBTB20	ORPHA:3042
HP:0003549	Abnormality of connective tissue	64419	MTMR14	OMIM:160150
HP:0003549	Abnormality of connective tissue	57152	SLURP1	ORPHA:87503
HP:0003549	Abnormality of connective tissue	27086	FOXP1	ORPHA:391372
HP:0003549	Abnormality of connective tissue	773	CACNA1A	OMIM:617106
HP:0003549	Abnormality of connective tissue	6506	SLC1A2	OMIM:617105
HP:0003549	Abnormality of connective tissue	388015	RTL1	ORPHA:96334
HP:0003549	Abnormality of connective tissue	388015	RTL1	ORPHA:254528
HP:0003549	Abnormality of connective tissue	8788	DLK1	ORPHA:96334
HP:0003549	Abnormality of connective tissue	8788	DLK1	ORPHA:254528
HP:0003549	Abnormality of connective tissue	55384	MEG3	ORPHA:96334
HP:0003549	Abnormality of connective tissue	55384	MEG3	ORPHA:254528
HP:0003549	Abnormality of connective tissue	51085	MLXIPL	OMIM:194050
HP:0003549	Abnormality of connective tissue	2006	ELN	OMIM:194050
HP:0003549	Abnormality of connective tissue	487	ATP2A1	OMIM:601003
HP:0003549	Abnormality of connective tissue	427	ASAH1	ORPHA:2590
HP:0003549	Abnormality of connective tissue	427	ASAH1	ORPHA:333
HP:0003549	Abnormality of connective tissue	4677	NARS1	OMIM:619091
HP:0003549	Abnormality of connective tissue	22906	TRAK1	OMIM:618201
HP:0003549	Abnormality of connective tissue	5692	PSMB4	OMIM:617591
HP:0003549	Abnormality of connective tissue	5698	PSMB9	OMIM:617591
HP:0003549	Abnormality of connective tissue	51227	PIGP	OMIM:617599
HP:0003549	Abnormality of connective tissue	55275	VPS53	OMIM:615851
HP:0003549	Abnormality of connective tissue	84570	COL25A1	ORPHA:1143
HP:0003549	Abnormality of connective tissue	6567	SLC16A2	ORPHA:59
HP:0003549	Abnormality of connective tissue	6567	SLC16A2	OMIM:300523
HP:0003549	Abnormality of connective tissue	81570	CLPB	OMIM:616271
HP:0003549	Abnormality of connective tissue	667	DST	OMIM:614653
HP:0003549	Abnormality of connective tissue	3329	HSPD1	OMIM:612233
HP:0003549	Abnormality of connective tissue	1144	CHRND	OMIM:253290
HP:0003549	Abnormality of connective tissue	284119	CAVIN1	OMIM:613327
HP:0003549	Abnormality of connective tissue	55770	EXOC2	OMIM:619306
HP:0003549	Abnormality of connective tissue	8905	AP1S2	OMIM:304340
HP:0003549	Abnormality of connective tissue	4001	LMNB1	ORPHA:99027
HP:0003549	Abnormality of connective tissue	389827	MYMK	OMIM:254940
HP:0003549	Abnormality of connective tissue	56052	ALG1	OMIM:608540
HP:0003549	Abnormality of connective tissue	10075	HUWE1	OMIM:309590
HP:0003549	Abnormality of connective tissue	9663	LPIN2	OMIM:609628
HP:0003549	Abnormality of connective tissue	9663	LPIN2	ORPHA:77297
HP:0003549	Abnormality of connective tissue	84706	GPT2	OMIM:616281
HP:0003549	Abnormality of connective tissue	23111	SPART	OMIM:275900
HP:0003549	Abnormality of connective tissue	112	ADCY6	OMIM:616287
HP:0003549	Abnormality of connective tissue	579	NKX3-2	OMIM:613330
HP:0003549	Abnormality of connective tissue	100151683	RNU4ATAC	OMIM:210710
HP:0003549	Abnormality of connective tissue	1756	DMD	OMIM:310200
HP:0003549	Abnormality of connective tissue	1756	DMD	ORPHA:98896
HP:0003549	Abnormality of connective tissue	9526	MPDU1	OMIM:609180
HP:0003549	Abnormality of connective tissue	203547	VMA21	OMIM:310440
HP:0003549	Abnormality of connective tissue	4747	NEFL	OMIM:607684
HP:0003549	Abnormality of connective tissue	256297	PTF1A	OMIM:609069
HP:0003549	Abnormality of connective tissue	411	ARSB	OMIM:253200
HP:0003549	Abnormality of connective tissue	6442	SGCA	OMIM:608099
HP:0003549	Abnormality of connective tissue	10049	DNAJB6	OMIM:603511
HP:0003549	Abnormality of connective tissue	79868	ALG13	OMIM:300884
HP:0003549	Abnormality of connective tissue	6651	SON	OMIM:617140
HP:0003549	Abnormality of connective tissue	8882	ZPR1	OMIM:619321
HP:0003549	Abnormality of connective tissue	10229	COQ7	OMIM:616733
HP:0003549	Abnormality of connective tissue	112939	NACC1	ORPHA:500545
HP:0003549	Abnormality of connective tissue	29078	NDUFAF4	OMIM:618237
HP:0003549	Abnormality of connective tissue	5831	PYCR1	OMIM:614438
HP:0003549	Abnormality of connective tissue	5010	CLDN11	OMIM:619328
HP:0003549	Abnormality of connective tissue	10651	MTX2	ORPHA:90153
HP:0003549	Abnormality of connective tissue	10651	MTX2	OMIM:619127
HP:0003549	Abnormality of connective tissue	4204	MECP2	OMIM:300055
HP:0003549	Abnormality of connective tissue	3039	HBA1	ORPHA:98791
HP:0003549	Abnormality of connective tissue	3040	HBA2	ORPHA:98791
HP:0003549	Abnormality of connective tissue	10940	POP1	OMIM:617396
HP:0003549	Abnormality of connective tissue	11253	MAN1B1	OMIM:614202
HP:0003549	Abnormality of connective tissue	6331	SCN5A	ORPHA:1344
HP:0003549	Abnormality of connective tissue	4878	NPPA	ORPHA:1344
HP:0003549	Abnormality of connective tissue	1280	COL2A1	OMIM:609162
HP:0003549	Abnormality of connective tissue	64856	VWA1	OMIM:619216
HP:0003549	Abnormality of connective tissue	7965	AIMP2	OMIM:618006
HP:0003549	Abnormality of connective tissue	29920	PYCR2	ORPHA:481152
HP:0003549	Abnormality of connective tissue	5160	PDHA1	ORPHA:79243
HP:0003549	Abnormality of connective tissue	91647	ATPAF2	OMIM:604273
HP:0003549	Abnormality of connective tissue	6329	SCN4A	ORPHA:682
HP:0003549	Abnormality of connective tissue	6390	SDHB	OMIM:619224
HP:0003549	Abnormality of connective tissue	11342	RNF13	OMIM:618379
HP:0003549	Abnormality of connective tissue	11342	RNF13	ORPHA:544503
HP:0003549	Abnormality of connective tissue	8802	SUCLG1	ORPHA:17
HP:0003549	Abnormality of connective tissue	79796	ALG9	OMIM:263210
HP:0003549	Abnormality of connective tissue	128637	TBC1D20	OMIM:615663
HP:0003549	Abnormality of connective tissue	8425	LTBP4	ORPHA:98896
HP:0003549	Abnormality of connective tissue	7874	USP7	ORPHA:500055
HP:0003549	Abnormality of connective tissue	9851	KIAA0753	OMIM:619479
HP:0003549	Abnormality of connective tissue	35	ACADS	OMIM:201470
HP:0003549	Abnormality of connective tissue	2517	FUCA1	OMIM:230000
HP:0003549	Abnormality of connective tissue	25782	RAB3GAP2	OMIM:614225
HP:0003549	Abnormality of connective tissue	22931	RAB18	OMIM:614222
HP:0003549	Abnormality of connective tissue	998	CDC42	ORPHA:487796
HP:0003549	Abnormality of connective tissue	4534	MTM1	OMIM:310400
HP:0003549	Abnormality of connective tissue	2571	GAD1	OMIM:619124
HP:0003549	Abnormality of connective tissue	162514	TRPV3	OMIM:614594
HP:0003549	Abnormality of connective tissue	202018	TAPT1	OMIM:616897
HP:0003549	Abnormality of connective tissue	342035	GLDN	OMIM:617194
HP:0003549	Abnormality of connective tissue	2176	FANCC	OMIM:227645
HP:0003549	Abnormality of connective tissue	5538	PPT1	OMIM:256730
HP:0003549	Abnormality of connective tissue	2990	GUSB	OMIM:253220
HP:0003549	Abnormality of connective tissue	8243	SMC1A	ORPHA:220386
HP:0003549	Abnormality of connective tissue	8815	BANF1	OMIM:614008
HP:0003549	Abnormality of connective tissue	84700	MYO18B	OMIM:616549
HP:0003549	Abnormality of connective tissue	5354	PLP1	OMIM:312920
HP:0003549	Abnormality of connective tissue	84081	NSRP1	OMIM:620001
HP:0003549	Abnormality of connective tissue	6389	SDHA	OMIM:252011
HP:0003549	Abnormality of connective tissue	2801	GOLGA2	OMIM:620240
HP:0003549	Abnormality of connective tissue	129285	PPP1R21	OMIM:619383
HP:0003549	Abnormality of connective tissue	84842	HPDL	OMIM:619026
HP:0003549	Abnormality of connective tissue	22978	NT5C2	OMIM:613162
HP:0003549	Abnormality of connective tissue	221692	PHACTR1	OMIM:618298
HP:0003549	Abnormality of connective tissue	1140	CHRNB1	OMIM:616313
HP:0003549	Abnormality of connective tissue	9990	SLC12A6	OMIM:218000
HP:0003549	Abnormality of connective tissue	6786	STIM1	OMIM:160565
HP:0003549	Abnormality of connective tissue	203859	ANO5	ORPHA:206549
HP:0003549	Abnormality of connective tissue	341640	FREM2	ORPHA:2052
HP:0003549	Abnormality of connective tissue	80144	FRAS1	ORPHA:2052
HP:0003549	Abnormality of connective tissue	23426	GRIP1	ORPHA:2052
HP:0003549	Abnormality of connective tissue	1788	DNMT3A	ORPHA:404443
HP:0003549	Abnormality of connective tissue	1788	DNMT3A	OMIM:615879
HP:0003549	Abnormality of connective tissue	7849	PAX8	OMIM:218700
HP:0003549	Abnormality of connective tissue	7849	PAX8	ORPHA:95712
HP:0003549	Abnormality of connective tissue	283489	CHAMP1	OMIM:616579
HP:0003549	Abnormality of connective tissue	23384	SPECC1L	ORPHA:1519
HP:0003549	Abnormality of connective tissue	3764	KCNJ8	ORPHA:1517
HP:0003549	Abnormality of connective tissue	7253	TSHR	ORPHA:90673
HP:0003549	Abnormality of connective tissue	7252	TSHB	ORPHA:90674
HP:0003549	Abnormality of connective tissue	7252	TSHB	OMIM:275100
HP:0003549	Abnormality of connective tissue	54453	RIN2	OMIM:613075
HP:0003549	Abnormality of connective tissue	54453	RIN2	ORPHA:217335
HP:0003549	Abnormality of connective tissue	672	BRCA1	ORPHA:84
HP:0003549	Abnormality of connective tissue	10459	MAD2L2	ORPHA:84
HP:0003549	Abnormality of connective tissue	7516	XRCC2	ORPHA:84
HP:0003549	Abnormality of connective tissue	29089	UBE2T	ORPHA:84
HP:0003549	Abnormality of connective tissue	675	BRCA2	ORPHA:84
HP:0003549	Abnormality of connective tissue	55120	FANCL	ORPHA:84
HP:0003549	Abnormality of connective tissue	2177	FANCD2	ORPHA:84
HP:0003549	Abnormality of connective tissue	2175	FANCA	ORPHA:84
HP:0003549	Abnormality of connective tissue	2178	FANCE	ORPHA:84
HP:0003549	Abnormality of connective tissue	2188	FANCF	ORPHA:84
HP:0003549	Abnormality of connective tissue	2189	FANCG	ORPHA:84
HP:0003549	Abnormality of connective tissue	5888	RAD51	ORPHA:84
HP:0003549	Abnormality of connective tissue	5889	RAD51C	ORPHA:84
HP:0003549	Abnormality of connective tissue	55159	RFWD3	ORPHA:84
HP:0003549	Abnormality of connective tissue	83990	BRIP1	ORPHA:84
HP:0003549	Abnormality of connective tissue	57697	FANCM	ORPHA:84
HP:0003549	Abnormality of connective tissue	79728	PALB2	ORPHA:84
HP:0003549	Abnormality of connective tissue	84464	SLX4	ORPHA:84
HP:0003549	Abnormality of connective tissue	55215	FANCI	ORPHA:84
HP:0003549	Abnormality of connective tissue	3070	HELLS	ORPHA:2268
HP:0003549	Abnormality of connective tissue	1789	DNMT3B	ORPHA:2268
HP:0003549	Abnormality of connective tissue	83879	CDCA7	ORPHA:2268
HP:0003549	Abnormality of connective tissue	9841	ZBTB24	ORPHA:2268
HP:0003549	Abnormality of connective tissue	1009	CDH11	ORPHA:1299
HP:0003549	Abnormality of connective tissue	4036	LRP2	ORPHA:2143
HP:0003549	Abnormality of connective tissue	4036	LRP2	OMIM:222448
HP:0003549	Abnormality of connective tissue	5626	PROP1	ORPHA:226307
HP:0003549	Abnormality of connective tissue	89884	LHX4	ORPHA:226307
HP:0003549	Abnormality of connective tissue	8022	LHX3	ORPHA:226307
HP:0003549	Abnormality of connective tissue	5449	POU1F1	ORPHA:226307
HP:0003549	Abnormality of connective tissue	8820	HESX1	ORPHA:226307
HP:0003549	Abnormality of connective tissue	79753	SNIP1	OMIM:614501
HP:0003549	Abnormality of connective tissue	5593	PRKG2	OMIM:619636
HP:0003549	Abnormality of connective tissue	8364	H4C3	OMIM:619758
HP:0003549	Abnormality of connective tissue	50506	DUOX2	ORPHA:226316
HP:0003549	Abnormality of connective tissue	50506	DUOX2	ORPHA:95716
HP:0003549	Abnormality of connective tissue	25802	LMOD1	ORPHA:2241
HP:0003549	Abnormality of connective tissue	7030	TFE3	OMIM:301066
HP:0003549	Abnormality of connective tissue	285203	EOGT	OMIM:615297
HP:0003549	Abnormality of connective tissue	57479	PRR12	OMIM:619539
HP:0003549	Abnormality of connective tissue	84168	ANTXR1	OMIM:230740
HP:0003549	Abnormality of connective tissue	84168	ANTXR1	ORPHA:2067
HP:0003549	Abnormality of connective tissue	64919	BCL11B	OMIM:617237
HP:0003549	Abnormality of connective tissue	6528	SLC5A5	OMIM:274400
HP:0003549	Abnormality of connective tissue	6528	SLC5A5	ORPHA:95716
HP:0003549	Abnormality of connective tissue	90417	KNSTRN	OMIM:613328
HP:0003549	Abnormality of connective tissue	90417	KNSTRN	ORPHA:221139
HP:0003549	Abnormality of connective tissue	6792	CDKL5	ORPHA:1934
HP:0003549	Abnormality of connective tissue	3736	KCNA1	ORPHA:1934
HP:0003549	Abnormality of connective tissue	2775	GNAO1	ORPHA:1934
HP:0003549	Abnormality of connective tissue	81603	TRIM8	ORPHA:1934
HP:0003549	Abnormality of connective tissue	79751	SLC25A22	ORPHA:1934
HP:0003549	Abnormality of connective tissue	150094	SIK1	ORPHA:1934
HP:0003549	Abnormality of connective tissue	8573	CASK	ORPHA:1934
HP:0003549	Abnormality of connective tissue	23312	DMXL2	ORPHA:1934
HP:0003549	Abnormality of connective tissue	2917	GRM7	ORPHA:1934
HP:0003549	Abnormality of connective tissue	11284	PNKP	ORPHA:1934
HP:0003549	Abnormality of connective tissue	6326	SCN2A	ORPHA:1934
HP:0003549	Abnormality of connective tissue	6324	SCN1B	ORPHA:1934
HP:0003549	Abnormality of connective tissue	4761	NEUROD2	ORPHA:1934
HP:0003549	Abnormality of connective tissue	9759	HDAC4	ORPHA:1001
HP:0003549	Abnormality of connective tissue	6299	SALL1	OMIM:107480
HP:0003549	Abnormality of connective tissue	3097	HIVEP2	OMIM:616977
HP:0003549	Abnormality of connective tissue	346171	ZFP57	ORPHA:99886
HP:0003549	Abnormality of connective tissue	57061	HYMAI	ORPHA:99886
HP:0003549	Abnormality of connective tissue	57061	HYMAI	ORPHA:96191
HP:0003549	Abnormality of connective tissue	5325	PLAGL1	ORPHA:99886
HP:0003549	Abnormality of connective tissue	5325	PLAGL1	ORPHA:96191
HP:0003549	Abnormality of connective tissue	79068	FTO	OMIM:612938
HP:0003549	Abnormality of connective tissue	4784	NFIX	OMIM:602535
HP:0003549	Abnormality of connective tissue	3756	KCNH1	OMIM:135500
HP:0003549	Abnormality of connective tissue	405753	DUOXA2	ORPHA:95716
HP:0003549	Abnormality of connective tissue	7038	TG	ORPHA:95716
HP:0003549	Abnormality of connective tissue	7173	TPO	ORPHA:95716
HP:0003549	Abnormality of connective tissue	389434	IYD	ORPHA:95716
HP:0003549	Abnormality of connective tissue	55603	TENT5A	OMIM:617952
HP:0003549	Abnormality of connective tissue	2019	EN1	OMIM:619218
HP:0003549	Abnormality of connective tissue	1482	NKX2-5	ORPHA:95712
HP:0003549	Abnormality of connective tissue	6045	RNF2	OMIM:619460
HP:0003549	Abnormality of connective tissue	2475	MTOR	OMIM:616638
HP:0003549	Abnormality of connective tissue	100506658	OCLN	OMIM:251290
HP:0003549	Abnormality of connective tissue	23169	SLC35D1	OMIM:269250
HP:0003549	Abnormality of connective tissue	5879	RAC1	OMIM:617751
HP:0003549	Abnormality of connective tissue	5879	RAC1	ORPHA:500159
HP:0003549	Abnormality of connective tissue	84231	TRAF7	OMIM:618164
HP:0003549	Abnormality of connective tissue	10584	COLEC10	ORPHA:293843
HP:0003549	Abnormality of connective tissue	5648	MASP1	ORPHA:293843
HP:0003549	Abnormality of connective tissue	78989	COLEC11	ORPHA:293843
HP:0003549	Abnormality of connective tissue	55553	SOX6	OMIM:618971
HP:0003549	Abnormality of connective tissue	2294	FOXF1	OMIM:265380
HP:0003549	Abnormality of connective tissue	28981	IFT81	OMIM:617895
HP:0003549	Abnormality of connective tissue	55112	DYNC2I1	ORPHA:93271
HP:0003549	Abnormality of connective tissue	57560	IFT80	ORPHA:93271
HP:0003549	Abnormality of connective tissue	79659	DYNC2H1	ORPHA:93271
HP:0003549	Abnormality of connective tissue	89891	DYNC2I2	ORPHA:93271
HP:0003549	Abnormality of connective tissue	51259	TMEM216	OMIM:603194
HP:0003549	Abnormality of connective tissue	10225	CD96	OMIM:211750
HP:0003549	Abnormality of connective tissue	10225	CD96	ORPHA:1308
HP:0003549	Abnormality of connective tissue	7547	ZIC3	OMIM:306955
HP:0003549	Abnormality of connective tissue	1147	CHUK	OMIM:613630
HP:0003549	Abnormality of connective tissue	158326	FREM1	ORPHA:3366
HP:0003549	Abnormality of connective tissue	158326	FREM1	OMIM:248450
HP:0003549	Abnormality of connective tissue	4323	MMP14	ORPHA:371428
HP:0003549	Abnormality of connective tissue	7067	THRA	OMIM:614450
HP:0003549	Abnormality of connective tissue	55012	PPP2R3C	OMIM:618419
HP:0003549	Abnormality of connective tissue	10046	MAMLD1	ORPHA:95706
HP:0003549	Abnormality of connective tissue	4524	MTHFR	ORPHA:563609
HP:0003549	Abnormality of connective tissue	4659	PPP1R12A	OMIM:618820
HP:0003549	Abnormality of connective tissue	9772	TMEM94	OMIM:618316
HP:0003549	Abnormality of connective tissue	3090	HIC1	ORPHA:531
HP:0003549	Abnormality of connective tissue	153241	CEP120	OMIM:616300
HP:0003549	Abnormality of connective tissue	3784	KCNQ1	OMIM:130650
HP:0003549	Abnormality of connective tissue	219844	HYLS1	OMIM:236680
HP:0003549	Abnormality of connective tissue	51339	DACT1	ORPHA:63260
HP:0003549	Abnormality of connective tissue	54888	NSUN2	OMIM:611091
HP:0003549	Abnormality of connective tissue	291	SLC25A4	OMIM:615418
HP:0003549	Abnormality of connective tissue	4556	MT-TE	ORPHA:2596
HP:0003549	Abnormality of connective tissue	2705	GJB1	OMIM:302800
HP:0003549	Abnormality of connective tissue	26090	ABHD12	OMIM:612674
HP:0003549	Abnormality of connective tissue	729920	CRPPA	ORPHA:370980
HP:0003549	Abnormality of connective tissue	1832	DSP	ORPHA:158687
HP:0003549	Abnormality of connective tissue	3728	JUP	ORPHA:158687
HP:0003549	Abnormality of connective tissue	91179	SCARF2	OMIM:600920
HP:0003549	Abnormality of connective tissue	2737	GLI3	OMIM:175700
HP:0003549	Abnormality of connective tissue	84295	PHF6	ORPHA:127
HP:0003549	Abnormality of connective tissue	2273	FHL1	OMIM:300280
HP:0003549	Abnormality of connective tissue	4313	MMP2	OMIM:259600
HP:0003549	Abnormality of connective tissue	4629	MYH11	OMIM:619350
HP:0003549	Abnormality of connective tissue	538	ATP7A	ORPHA:198
HP:0003549	Abnormality of connective tissue	538	ATP7A	OMIM:304150
HP:0003549	Abnormality of connective tissue	81031	SLC2A10	OMIM:208050
HP:0003549	Abnormality of connective tissue	81031	SLC2A10	ORPHA:3342
HP:0003549	Abnormality of connective tissue	2132	EXT2	OMIM:616682
HP:0003549	Abnormality of connective tissue	25836	NIPBL	OMIM:122470
HP:0003549	Abnormality of connective tissue	9509	ADAMTS2	ORPHA:1901
HP:0003549	Abnormality of connective tissue	6925	TCF4	ORPHA:2896
HP:0003549	Abnormality of connective tissue	5832	ALDH18A1	OMIM:601162
HP:0003549	Abnormality of connective tissue	1277	COL1A1	ORPHA:287
HP:0003549	Abnormality of connective tissue	1289	COL5A1	ORPHA:287
HP:0003549	Abnormality of connective tissue	1289	COL5A1	OMIM:619329
HP:0003549	Abnormality of connective tissue	1290	COL5A2	ORPHA:287
HP:0003549	Abnormality of connective tissue	7148	TNXB	OMIM:606408
HP:0003549	Abnormality of connective tissue	113189	CHST14	OMIM:601776
HP:0003549	Abnormality of connective tissue	715	C1R	OMIM:130080
HP:0003549	Abnormality of connective tissue	2743	GLRB	ORPHA:3197
HP:0003549	Abnormality of connective tissue	2743	GLRB	OMIM:614619
HP:0003549	Abnormality of connective tissue	2741	GLRA1	ORPHA:3197
HP:0003549	Abnormality of connective tissue	10243	GPHN	ORPHA:3197
HP:0003549	Abnormality of connective tissue	84896	ATAD1	ORPHA:3197
HP:0003549	Abnormality of connective tissue	9152	SLC6A5	ORPHA:3197
HP:0003549	Abnormality of connective tissue	9152	SLC6A5	OMIM:614618
HP:0003549	Abnormality of connective tissue	374879	ZNF699	OMIM:619488
HP:0003549	Abnormality of connective tissue	7043	TGFB3	OMIM:615582
HP:0003549	Abnormality of connective tissue	169792	GLIS3	OMIM:610199
HP:0003549	Abnormality of connective tissue	23261	CAMTA1	OMIM:614756
HP:0003549	Abnormality of connective tissue	84520	GON7	OMIM:619603
HP:0003549	Abnormality of connective tissue	51341	ZBTB7A	OMIM:619769
HP:0003549	Abnormality of connective tissue	777	CACNA1E	OMIM:618285
HP:0003549	Abnormality of connective tissue	56203	LMOD3	OMIM:616165
HP:0003549	Abnormality of connective tissue	100128927	ZBTB42	OMIM:616248
HP:0003549	Abnormality of connective tissue	283989	TSEN54	OMIM:277470
HP:0003549	Abnormality of connective tissue	283989	TSEN54	OMIM:225753
HP:0003549	Abnormality of connective tissue	57211	ADGRG6	OMIM:616503
HP:0003549	Abnormality of connective tissue	4703	NEB	OMIM:256030
HP:0003549	Abnormality of connective tissue	246329	STAC3	ORPHA:168572
HP:0003549	Abnormality of connective tissue	4620	MYH2	OMIM:605637
HP:0003549	Abnormality of connective tissue	171023	ASXL1	ORPHA:97297
HP:0003549	Abnormality of connective tissue	9496	TBX4	ORPHA:261279
HP:0003549	Abnormality of connective tissue	26053	AUTS2	ORPHA:352490
HP:0003549	Abnormality of connective tissue	57222	ERGIC1	OMIM:208100
HP:0003549	Abnormality of connective tissue	1785	DNM2	OMIM:615368
HP:0003549	Abnormality of connective tissue	5081	PAX7	OMIM:618578
HP:0003549	Abnormality of connective tissue	7443	VRK1	OMIM:607596
HP:0003549	Abnormality of connective tissue	26153	KIF26A	OMIM:620156
HP:0003549	Abnormality of connective tissue	1718	DHCR24	OMIM:602398
HP:0003549	Abnormality of connective tissue	2673	GFPT1	OMIM:608931
HP:0003549	Abnormality of connective tissue	1145	CHRNE	OMIM:608931
HP:0003549	Abnormality of connective tissue	91754	NEK9	OMIM:614262
HP:0003549	Abnormality of connective tissue	2632	GBE1	OMIM:232500
HP:0003549	Abnormality of connective tissue	55627	SMPD4	OMIM:618622
HP:0003549	Abnormality of connective tissue	1134	CHRNA1	OMIM:608930
HP:0003549	Abnormality of connective tissue	2629	GBA1	OMIM:608013
HP:0003549	Abnormality of connective tissue	2629	GBA1	ORPHA:85212
HP:0003549	Abnormality of connective tissue	55593	OTUD5	OMIM:301056
HP:0003549	Abnormality of connective tissue	58	ACTA1	ORPHA:171436
HP:0003549	Abnormality of connective tissue	58	ACTA1	ORPHA:171433
HP:0003549	Abnormality of connective tissue	58	ACTA1	ORPHA:171430
HP:0003549	Abnormality of connective tissue	58	ACTA1	OMIM:161800
HP:0003549	Abnormality of connective tissue	58	ACTA1	ORPHA:171439
HP:0003549	Abnormality of connective tissue	10324	KLHL41	ORPHA:171436
HP:0003549	Abnormality of connective tissue	10324	KLHL41	ORPHA:171433
HP:0003549	Abnormality of connective tissue	10324	KLHL41	ORPHA:171430
HP:0003549	Abnormality of connective tissue	10324	KLHL41	OMIM:615731
HP:0003549	Abnormality of connective tissue	10324	KLHL41	ORPHA:171439
HP:0003549	Abnormality of connective tissue	1073	CFL2	ORPHA:171436
HP:0003549	Abnormality of connective tissue	60482	SLC5A7	OMIM:617143
HP:0003549	Abnormality of connective tissue	60482	SLC5A7	ORPHA:98914
HP:0003549	Abnormality of connective tissue	6536	SLC6A9	OMIM:617301
HP:0003549	Abnormality of connective tissue	131377	KLHL40	ORPHA:171430
HP:0003549	Abnormality of connective tissue	84162	BLTP1	OMIM:617822
HP:0003549	Abnormality of connective tissue	23729	SHPK	ORPHA:440713
HP:0003549	Abnormality of connective tissue	79158	GNPTAB	OMIM:252500
HP:0003549	Abnormality of connective tissue	2733	GLE1	OMIM:253310
HP:0003549	Abnormality of connective tissue	2733	GLE1	OMIM:611890
HP:0003549	Abnormality of connective tissue	6904	TBCD	ORPHA:496641
HP:0003549	Abnormality of connective tissue	6904	TBCD	OMIM:617193
HP:0003549	Abnormality of connective tissue	5980	REV3L	ORPHA:570
HP:0003549	Abnormality of connective tissue	23129	PLXND1	ORPHA:570
HP:0003549	Abnormality of connective tissue	63925	ZNF335	OMIM:615095
HP:0003549	Abnormality of connective tissue	1020	CDK5	OMIM:616342
HP:0003549	Abnormality of connective tissue	23345	SYNE1	OMIM:618484
HP:0003549	Abnormality of connective tissue	23345	SYNE1	ORPHA:319332
HP:0003549	Abnormality of connective tissue	29940	DSE	ORPHA:2953
HP:0003549	Abnormality of connective tissue	5119	CHMP1A	OMIM:614961
HP:0003549	Abnormality of connective tissue	91869	RFT1	ORPHA:244310
HP:0003549	Abnormality of connective tissue	9326	ZNHIT3	ORPHA:2836
HP:0003549	Abnormality of connective tissue	547	KIF1A	ORPHA:2836
HP:0003549	Abnormality of connective tissue	6663	SOX10	ORPHA:163746
HP:0003549	Abnormality of connective tissue	6663	SOX10	OMIM:609136
HP:0003549	Abnormality of connective tissue	55681	SCYL2	OMIM:618766
HP:0003549	Abnormality of connective tissue	51008	ASCC1	OMIM:616867
HP:0003549	Abnormality of connective tissue	26276	VPS33B	OMIM:208085
HP:0003549	Abnormality of connective tissue	57498	KIDINS220	OMIM:619501
HP:0003549	Abnormality of connective tissue	63894	VIPAS39	OMIM:613404
HP:0003549	Abnormality of connective tissue	2065	ERBB3	OMIM:243180
HP:0003549	Abnormality of connective tissue	2065	ERBB3	OMIM:607598
HP:0003549	Abnormality of connective tissue	54551	MAGEL2	OMIM:615547
HP:0003549	Abnormality of connective tissue	23265	EXOC7	OMIM:619072
HP:0003549	Abnormality of connective tissue	1182	CLCN3	OMIM:619512
HP:0003549	Abnormality of connective tissue	5530	PPP3CA	OMIM:618265
HP:0003549	Abnormality of connective tissue	1103	CHAT	OMIM:254210
HP:0003549	Abnormality of connective tissue	1103	CHAT	ORPHA:98914
HP:0003549	Abnormality of connective tissue	11340	EXOSC8	ORPHA:2254
HP:0003549	Abnormality of connective tissue	23287	AGTPBP1	ORPHA:2254
HP:0003549	Abnormality of connective tissue	51010	EXOSC3	ORPHA:2254
HP:0003549	Abnormality of connective tissue	91137	SLC25A46	ORPHA:2254
HP:0003549	Abnormality of connective tissue	5352	PLOD2	ORPHA:2771
HP:0003549	Abnormality of connective tissue	60681	FKBP10	ORPHA:2771
HP:0003549	Abnormality of connective tissue	55165	CEP55	OMIM:236500
HP:0003549	Abnormality of connective tissue	3800	KIF5C	OMIM:615282
HP:0003549	Abnormality of connective tissue	5297	PI4KA	OMIM:616531
HP:0003549	Abnormality of connective tissue	9928	KIF14	OMIM:616258
HP:0003549	Abnormality of connective tissue	163175	LGI4	OMIM:617468
HP:0003549	Abnormality of connective tissue	4649	MYO9A	ORPHA:98914
HP:0003549	Abnormality of connective tissue	1305	COL13A1	ORPHA:98914
HP:0003549	Abnormality of connective tissue	6576	SLC25A1	ORPHA:98914
HP:0003549	Abnormality of connective tissue	6843	VAMP1	ORPHA:98914
HP:0003549	Abnormality of connective tissue	375790	AGRN	ORPHA:98914
HP:0003549	Abnormality of connective tissue	127833	SYT2	ORPHA:98914
HP:0003549	Abnormality of connective tissue	6616	SNAP25	ORPHA:98914
HP:0003549	Abnormality of connective tissue	3911	LAMA5	OMIM:620076
HP:0003549	Abnormality of connective tissue	4626	MYH8	OMIM:158300
HP:0003549	Abnormality of connective tissue	9319	TRIP13	OMIM:617598
HP:0003549	Abnormality of connective tissue	10479	SLC9A6	ORPHA:85278
HP:0003549	Abnormality of connective tissue	200205	IBA57	OMIM:615330
HP:0003549	Abnormality of connective tissue	84665	MYPN	ORPHA:171439
HP:0003549	Abnormality of connective tissue	390594	KBTBD13	ORPHA:171439
HP:0003549	Abnormality of connective tissue	10195	ALG3	ORPHA:79321
HP:0003549	Abnormality of connective tissue	10195	ALG3	OMIM:601110
HP:0003549	Abnormality of connective tissue	91574	MTRFR	ORPHA:320375
HP:0003549	Abnormality of connective tissue	54101	RIPK4	OMIM:263650
HP:0003549	Abnormality of connective tissue	8216	LZTR1	OMIM:605275
HP:0003549	Abnormality of connective tissue	57190	SELENON	ORPHA:324604
HP:0003549	Abnormality of connective tissue	4625	MYH7	ORPHA:324604
HP:0003549	Abnormality of connective tissue	7273	TTN	ORPHA:324604
HP:0003549	Abnormality of connective tissue	6261	RYR1	ORPHA:597
HP:0003549	Abnormality of connective tissue	6261	RYR1	ORPHA:424107
HP:0003549	Abnormality of connective tissue	23769	FLRT1	ORPHA:320406
HP:0003549	Abnormality of connective tissue	64837	KLC2	ORPHA:320406
HP:0003549	Abnormality of connective tissue	5393	EXOSC9	OMIM:618065
HP:0003549	Abnormality of connective tissue	94005	PIGS	OMIM:618143
HP:0003549	Abnormality of connective tissue	55823	VPS11	ORPHA:466934
HP:0003549	Abnormality of connective tissue	7051	TGM1	ORPHA:100976
HP:0003549	Abnormality of connective tissue	1763	DNA2	ORPHA:352470
HP:0003549	Abnormality of connective tissue	23396	PIP5K1C	OMIM:611369
HP:0003549	Abnormality of connective tissue	9499	MYOT	ORPHA:98911
HP:0003549	Abnormality of connective tissue	54820	NDE1	OMIM:605013
HP:0003549	Abnormality of connective tissue	3417	IDH1	ORPHA:99646
HP:0003549	Abnormality of connective tissue	29925	GMPPB	ORPHA:370968
HP:0003549	Abnormality of connective tissue	79147	FKRP	ORPHA:370968
HP:0003549	Abnormality of connective tissue	29954	POMT2	ORPHA:370968
HP:0003549	Abnormality of connective tissue	9215	LARGE1	ORPHA:370968
HP:0003549	Abnormality of connective tissue	10585	POMT1	ORPHA:370968
HP:0003549	Abnormality of connective tissue	5373	PMM2	ORPHA:79318
HP:0003549	Abnormality of connective tissue	5981	RFC1	ORPHA:504476
HP:0003549	Abnormality of connective tissue	126792	B3GALT6	ORPHA:536467
HP:0003549	Abnormality of connective tissue	339855	KY	OMIM:617114
HP:0003549	Abnormality of connective tissue	199857	ALG14	OMIM:616227
HP:0003549	Abnormality of connective tissue	404672	GTF2H5	ORPHA:33364
HP:0003549	Abnormality of connective tissue	833	CARS1	ORPHA:33364
HP:0003549	Abnormality of connective tissue	7737	RNF113A	ORPHA:33364
HP:0003549	Abnormality of connective tissue	136647	MPLKIP	ORPHA:33364
HP:0003549	Abnormality of connective tissue	6897	TARS1	ORPHA:33364
HP:0003549	Abnormality of connective tissue	2071	ERCC3	ORPHA:33364
HP:0003549	Abnormality of connective tissue	2961	GTF2E2	ORPHA:33364
HP:0003549	Abnormality of connective tissue	6509	SLC1A4	ORPHA:447997
HP:0003549	Abnormality of connective tissue	23299	BICD2	OMIM:618291
HP:0003549	Abnormality of connective tissue	7317	UBA1	OMIM:301830
HP:0003549	Abnormality of connective tissue	10535	RNASEH2A	ORPHA:51
HP:0003549	Abnormality of connective tissue	84153	RNASEH2C	ORPHA:51
HP:0003549	Abnormality of connective tissue	25939	SAMHD1	ORPHA:51
HP:0003549	Abnormality of connective tissue	79621	RNASEH2B	ORPHA:51
HP:0003549	Abnormality of connective tissue	103	ADAR	ORPHA:51
HP:0003549	Abnormality of connective tissue	11277	TREX1	ORPHA:51
HP:0003549	Abnormality of connective tissue	100147744	RNU7-1	ORPHA:51
HP:0003549	Abnormality of connective tissue	134353	LSM11	ORPHA:51
HP:0003549	Abnormality of connective tissue	64135	IFIH1	ORPHA:51
HP:0003549	Abnormality of connective tissue	1861	TOR1A	OMIM:128100
HP:0003549	Abnormality of connective tissue	9325	TRIP4	ORPHA:486815
HP:0003549	Abnormality of connective tissue	165	AEBP1	ORPHA:536532
HP:0003549	Abnormality of connective tissue	165	AEBP1	OMIM:618000
HP:0003549	Abnormality of connective tissue	23126	POGZ	ORPHA:468678
HP:0003549	Abnormality of connective tissue	2137	EXTL3	ORPHA:508533
HP:0003549	Abnormality of connective tissue	83932	SPRTN	OMIM:616200
HP:0003549	Abnormality of connective tissue	84065	TMEM222	OMIM:619470
HP:0003549	Abnormality of connective tissue	3835	KIF22	ORPHA:93360
HP:0003549	Abnormality of connective tissue	6628	SNRPB	OMIM:117650
HP:0003549	Abnormality of connective tissue	340419	RSPO2	OMIM:618022
HP:0003549	Abnormality of connective tissue	23233	EXOC6B	ORPHA:93359
HP:0003549	Abnormality of connective tissue	7476	WNT7A	OMIM:276820
HP:0003549	Abnormality of connective tissue	215	ABCD1	ORPHA:139396
HP:0003549	Abnormality of connective tissue	11160	ERLIN2	ORPHA:280384
HP:0003549	Abnormality of connective tissue	29968	PSAT1	ORPHA:284417
HP:0003549	Abnormality of connective tissue	51102	MECR	OMIM:617282
HP:0003549	Abnormality of connective tissue	3074	HEXB	ORPHA:309162
HP:0003549	Abnormality of connective tissue	51633	OTUD6B	ORPHA:505237
HP:0003549	Abnormality of connective tissue	170302	ARX	OMIM:300004
HP:0003549	Abnormality of connective tissue	8506	CNTNAP1	OMIM:618186
HP:0003549	Abnormality of connective tissue	23516	SLC39A14	OMIM:617013
HP:0003549	Abnormality of connective tissue	57679	ALS2	OMIM:205100
HP:0003549	Abnormality of connective tissue	7170	TPM3	OMIM:255310
HP:0003549	Abnormality of connective tissue	2902	GRIN1	OMIM:619814
HP:0003549	Abnormality of connective tissue	55131	RBM28	OMIM:612079
HP:0003549	Abnormality of connective tissue	2157	F8	ORPHA:169802
HP:0003549	Abnormality of connective tissue	51091	SEPSECS	OMIM:613811
HP:0003549	Abnormality of connective tissue	819	CAMLG	OMIM:620201
HP:0003549	Abnormality of connective tissue	5277	PIGA	OMIM:301072
HP:0003549	Abnormality of connective tissue	55768	NGLY1	ORPHA:404454
HP:0003549	Abnormality of connective tissue	1308	COL17A1	ORPHA:251393
HP:0003549	Abnormality of connective tissue	3691	ITGB4	ORPHA:251393
HP:0003549	Abnormality of connective tissue	10290	SPEG	ORPHA:169186
HP:0003549	Abnormality of connective tissue	10290	SPEG	OMIM:615959
HP:0003549	Abnormality of connective tissue	2617	GARS1	OMIM:619042
HP:0003549	Abnormality of connective tissue	7138	TNNT1	ORPHA:98902
HP:0003549	Abnormality of connective tissue	7138	TNNT1	OMIM:605355
HP:0003549	Abnormality of connective tissue	54681	P4HTM	OMIM:618493
HP:0003549	Abnormality of connective tissue	6023	RMRP	OMIM:607095
HP:0003549	Abnormality of connective tissue	3248	HPGD	ORPHA:217059
HP:0003549	Abnormality of connective tissue	4015	LOX	ORPHA:91387
HP:0003549	Abnormality of connective tissue	4087	SMAD2	ORPHA:91387
HP:0003549	Abnormality of connective tissue	7042	TGFB2	ORPHA:91387
HP:0003549	Abnormality of connective tissue	4089	SMAD4	ORPHA:91387
HP:0003549	Abnormality of connective tissue	59	ACTA2	ORPHA:91387
HP:0003549	Abnormality of connective tissue	5592	PRKG1	ORPHA:91387
HP:0003549	Abnormality of connective tissue	2301	FOXE3	ORPHA:91387
HP:0003549	Abnormality of connective tissue	4144	MAT2A	ORPHA:91387
HP:0003549	Abnormality of connective tissue	23493	HEY2	ORPHA:91387
HP:0003549	Abnormality of connective tissue	8076	MFAP5	ORPHA:91387
HP:0003549	Abnormality of connective tissue	4638	MYLK	ORPHA:91387
HP:0003549	Abnormality of connective tissue	3991	LIPE	ORPHA:435660
HP:0003549	Abnormality of connective tissue	54345	SOX18	OMIM:137940
HP:0003549	Abnormality of connective tissue	2271	FH	OMIM:606812
HP:0003549	Abnormality of connective tissue	8367	H4C5	OMIM:619950
HP:0003549	Abnormality of connective tissue	3643	INSR	ORPHA:508
HP:0003549	Abnormality of connective tissue	3643	INSR	ORPHA:769
HP:0003549	Abnormality of connective tissue	221496	LEMD2	OMIM:619322
HP:0003549	Abnormality of connective tissue	6514	SLC2A2	OMIM:227810
HP:0003549	Abnormality of connective tissue	7156	TOP3A	OMIM:618097
HP:0003549	Abnormality of connective tissue	3480	IGF1R	OMIM:270450
HP:0003549	Abnormality of connective tissue	10804	GJB6	ORPHA:477
HP:0003549	Abnormality of connective tissue	2706	GJB2	ORPHA:477
HP:0003549	Abnormality of connective tissue	2706	GJB2	OMIM:602540
HP:0003549	Abnormality of connective tissue	10682	EBP	ORPHA:35173
HP:0003549	Abnormality of connective tissue	126695	KDF1	OMIM:617337
HP:0003549	Abnormality of connective tissue	7390	UROS	ORPHA:79277
HP:0003549	Abnormality of connective tissue	2623	GATA1	ORPHA:79277
HP:0003549	Abnormality of connective tissue	7389	UROD	ORPHA:95159
HP:0003549	Abnormality of connective tissue	79188	TMEM43	ORPHA:98853
HP:0003549	Abnormality of connective tissue	23224	SYNE2	ORPHA:98853
HP:0003549	Abnormality of connective tissue	23389	MED13L	ORPHA:369891
HP:0003549	Abnormality of connective tissue	55628	ZNF407	OMIM:619557
HP:0003549	Abnormality of connective tissue	84265	POLR3GL	OMIM:619234
HP:0003549	Abnormality of connective tissue	3798	KIF5A	ORPHA:100991
HP:0003549	Abnormality of connective tissue	7528	YY1	ORPHA:506358
HP:0003549	Abnormality of connective tissue	7528	YY1	OMIM:617557
HP:0003549	Abnormality of connective tissue	34	ACADM	ORPHA:42
HP:0003549	Abnormality of connective tissue	57003	CCDC47	OMIM:618268
HP:0003549	Abnormality of connective tissue	4897	NRCAM	OMIM:619833
HP:0003549	Abnormality of connective tissue	84340	GFM2	ORPHA:565624
HP:0003549	Abnormality of connective tissue	55906	ZC4H2	ORPHA:3454
HP:0003549	Abnormality of connective tissue	55906	ZC4H2	OMIM:314580
HP:0003549	Abnormality of connective tissue	60386	SLC25A19	OMIM:613710
HP:0003549	Abnormality of connective tissue	2521	FUS	ORPHA:300605
HP:0003549	Abnormality of connective tissue	80208	SPG11	ORPHA:300605
HP:0003549	Abnormality of connective tissue	10280	SIGMAR1	ORPHA:300605
HP:0003549	Abnormality of connective tissue	10558	SPTLC1	ORPHA:300605
HP:0003549	Abnormality of connective tissue	80232	WDR26	ORPHA:513456
HP:0003549	Abnormality of connective tissue	6134	RPL10	ORPHA:459070
HP:0003549	Abnormality of connective tissue	3767	KCNJ11	ORPHA:99885
HP:0003549	Abnormality of connective tissue	6774	STAT3	ORPHA:99885
HP:0003549	Abnormality of connective tissue	2645	GCK	ORPHA:99885
HP:0003549	Abnormality of connective tissue	3651	PDX1	ORPHA:99885
HP:0003549	Abnormality of connective tissue	6833	ABCC8	ORPHA:99885
HP:0003549	Abnormality of connective tissue	3630	INS	ORPHA:99885
HP:0003549	Abnormality of connective tissue	9373	PLAA	ORPHA:521426
HP:0003549	Abnormality of connective tissue	9373	PLAA	OMIM:617527
HP:0003549	Abnormality of connective tissue	8818	DPM2	ORPHA:329178
HP:0003549	Abnormality of connective tissue	1193	CLIC2	ORPHA:324410
HP:0003549	Abnormality of connective tissue	5830	PEX5	OMIM:616716
HP:0003549	Abnormality of connective tissue	23556	PIGN	ORPHA:280633
HP:0003549	Abnormality of connective tissue	1984	EIF5A	OMIM:619376
HP:0003549	Abnormality of connective tissue	2643	GCH1	ORPHA:98808
HP:0003549	Abnormality of connective tissue	4929	NR4A2	ORPHA:98808
HP:0003549	Abnormality of connective tissue	3615	IMPDH2	ORPHA:98808
HP:0003549	Abnormality of connective tissue	6857	SYT1	ORPHA:522077
HP:0003549	Abnormality of connective tissue	157570	ESCO2	ORPHA:3103
HP:0003549	Abnormality of connective tissue	22880	MORC2	ORPHA:466768
HP:0003549	Abnormality of connective tissue	825	CAPN3	ORPHA:267
HP:0003549	Abnormality of connective tissue	113179	ADAT3	ORPHA:363528
HP:0003549	Abnormality of connective tissue	8111	GPR68	OMIM:617217
HP:0003549	Abnormality of connective tissue	10117	ENAM	OMIM:204650
HP:0003549	Abnormality of connective tissue	5251	PHEX	OMIM:307800
HP:0003549	Abnormality of connective tissue	9622	KLK4	OMIM:204700
HP:0003549	Abnormality of connective tissue	401138	AMTN	OMIM:617607
HP:0003549	Abnormality of connective tissue	265	AMELX	OMIM:301200
HP:0003549	Abnormality of connective tissue	9361	LONP1	OMIM:600373
HP:0003549	Abnormality of connective tissue	5339	PLEC	OMIM:226730
HP:0003549	Abnormality of connective tissue	5339	PLEC	OMIM:226670
HP:0003549	Abnormality of connective tissue	81607	NECTIN4	OMIM:613573
HP:0003549	Abnormality of connective tissue	2263	FGFR2	OMIM:149730
HP:0003549	Abnormality of connective tissue	2263	FGFR2	ORPHA:2363
HP:0003549	Abnormality of connective tissue	8675	STX16	ORPHA:94089
HP:0003549	Abnormality of connective tissue	64094	SMOC2	OMIM:125400
HP:0003549	Abnormality of connective tissue	3655	ITGA6	ORPHA:79403
HP:0003549	Abnormality of connective tissue	3909	LAMA3	ORPHA:79404
HP:0003549	Abnormality of connective tissue	3909	LAMA3	OMIM:245660
HP:0003549	Abnormality of connective tissue	3909	LAMA3	ORPHA:79402
HP:0003549	Abnormality of connective tissue	3909	LAMA3	OMIM:226700
HP:0003549	Abnormality of connective tissue	3918	LAMC2	ORPHA:79404
HP:0003549	Abnormality of connective tissue	3918	LAMC2	ORPHA:79402
HP:0003549	Abnormality of connective tissue	3918	LAMC2	OMIM:226700
HP:0003549	Abnormality of connective tissue	57511	COG6	ORPHA:363523
HP:0003549	Abnormality of connective tissue	57511	COG6	OMIM:614576
HP:0003549	Abnormality of connective tissue	57511	COG6	OMIM:615328
HP:0003549	Abnormality of connective tissue	80055	PGAP1	OMIM:615802
HP:0003549	Abnormality of connective tissue	152816	ODAPH	OMIM:614832
HP:0003549	Abnormality of connective tissue	56975	FAM20C	OMIM:259775
HP:0003549	Abnormality of connective tissue	6595	SMARCA2	OMIM:619293
HP:0003549	Abnormality of connective tissue	79641	ROGDI	OMIM:226750
HP:0003549	Abnormality of connective tissue	3694	ITGB6	OMIM:616221
HP:0003549	Abnormality of connective tissue	84068	SLC10A7	OMIM:618363
HP:0003549	Abnormality of connective tissue	10265	IRX5	OMIM:611174
HP:0003549	Abnormality of connective tissue	545	ATR	OMIM:614564
HP:0003549	Abnormality of connective tissue	545	ATR	OMIM:210600
HP:0003549	Abnormality of connective tissue	3117	HLA-DQA1	OMIM:212750
HP:0003549	Abnormality of connective tissue	3119	HLA-DQB1	OMIM:212750
HP:0003549	Abnormality of connective tissue	3759	KCNJ2	OMIM:170390
HP:0003549	Abnormality of connective tissue	55764	IFT122	OMIM:218330
HP:0003549	Abnormality of connective tissue	222663	SCUBE3	OMIM:619184
HP:0003549	Abnormality of connective tissue	860	RUNX2	OMIM:119600
HP:0003549	Abnormality of connective tissue	1594	CYP27B1	OMIM:264700
HP:0003549	Abnormality of connective tissue	1594	CYP27B1	ORPHA:289157
HP:0003549	Abnormality of connective tissue	7421	VDR	OMIM:277440
HP:0003549	Abnormality of connective tissue	4591	TRIM37	OMIM:253250
HP:0003549	Abnormality of connective tissue	2783	GNB2	OMIM:619503
HP:0003549	Abnormality of connective tissue	6304	SATB1	OMIM:619229
HP:0003549	Abnormality of connective tissue	5116	PCNT	OMIM:210720
HP:0003549	Abnormality of connective tissue	1747	DLX3	OMIM:104510
HP:0003549	Abnormality of connective tissue	9791	PTDSS1	OMIM:151050
HP:0003549	Abnormality of connective tissue	93650	ACP4	OMIM:617297
HP:0003549	Abnormality of connective tissue	57217	TTC7A	OMIM:243150
HP:0003549	Abnormality of connective tissue	134218	DNAJC21	OMIM:617052
HP:0003549	Abnormality of connective tissue	120227	CYP2R1	ORPHA:289157
HP:0003549	Abnormality of connective tissue	80320	SP6	OMIM:620104
HP:0003549	Abnormality of connective tissue	8626	TP63	OMIM:129400
HP:0003549	Abnormality of connective tissue	2255	FGF10	OMIM:620193
HP:0003549	Abnormality of connective tissue	2255	FGF10	ORPHA:2363
HP:0003549	Abnormality of connective tissue	83479	DDX59	ORPHA:2919
HP:0003549	Abnormality of connective tissue	8481	OFD1	OMIM:311200
HP:0003549	Abnormality of connective tissue	22995	CEP152	OMIM:613823
HP:0003549	Abnormality of connective tissue	9076	CLDN1	OMIM:607626
HP:0003549	Abnormality of connective tissue	326	AIRE	OMIM:240300
HP:0003549	Abnormality of connective tissue	4763	NF1	ORPHA:139474
HP:0003549	Abnormality of connective tissue	79977	GRHL2	OMIM:616029
HP:0003549	Abnormality of connective tissue	387	RHOA	OMIM:618727
HP:0003549	Abnormality of connective tissue	2591	GALNT3	OMIM:211900
HP:0003549	Abnormality of connective tissue	23219	FBXO28	OMIM:619777
HP:0003549	Abnormality of connective tissue	1107	CHD3	OMIM:618205
HP:0003549	Abnormality of connective tissue	2317	FLNB	OMIM:272460
HP:0003549	Abnormality of connective tissue	1487	CTBP1	OMIM:617915
HP:0003549	Abnormality of connective tissue	4487	MSX1	ORPHA:99798
HP:0003549	Abnormality of connective tissue	128178	EDARADD	ORPHA:99798
HP:0003549	Abnormality of connective tissue	5083	PAX9	ORPHA:99798
HP:0003549	Abnormality of connective tissue	7341	SUMO1	ORPHA:99798
HP:0003549	Abnormality of connective tissue	80326	WNT10A	ORPHA:99798
HP:0003549	Abnormality of connective tissue	1896	EDA	ORPHA:99798
HP:0003549	Abnormality of connective tissue	8313	AXIN2	ORPHA:99798
HP:0003549	Abnormality of connective tissue	3664	IRF6	ORPHA:99798
HP:0003549	Abnormality of connective tissue	4040	LRP6	ORPHA:99798
HP:0003549	Abnormality of connective tissue	7039	TGFA	ORPHA:99798
HP:0003549	Abnormality of connective tissue	7480	WNT10B	ORPHA:99798
HP:0003549	Abnormality of connective tissue	5286	PIK3C2A	ORPHA:557003
HP:0003549	Abnormality of connective tissue	224	ALDH3A2	OMIM:270200
HP:0003549	Abnormality of connective tissue	1513	CTSK	ORPHA:763
HP:0003549	Abnormality of connective tissue	258	AMBN	OMIM:616270
HP:0003549	Abnormality of connective tissue	3861	KRT14	ORPHA:69087
HP:0003549	Abnormality of connective tissue	3861	KRT14	ORPHA:79396
HP:0003549	Abnormality of connective tissue	5062	PAK2	OMIM:618458
HP:0003549	Abnormality of connective tissue	3852	KRT5	ORPHA:79396
HP:0003549	Abnormality of connective tissue	4038	LRP4	OMIM:212780
HP:0003549	Abnormality of connective tissue	4976	OPA1	OMIM:210000
HP:0003549	Abnormality of connective tissue	4921	DDR2	OMIM:271665
HP:0003549	Abnormality of connective tissue	23141	ANKLE2	OMIM:616681
HP:0003549	Abnormality of connective tissue	6840	SVIL	OMIM:619040
HP:0003549	Abnormality of connective tissue	3714	JAG2	OMIM:619566
HP:0003549	Abnormality of connective tissue	51506	UFC1	OMIM:618076
HP:0003549	Abnormality of connective tissue	23321	TRIM2	OMIM:615490
HP:0003549	Abnormality of connective tissue	2010	EMD	OMIM:310300
HP:0003549	Abnormality of connective tissue	79644	SRD5A3	OMIM:612713
HP:0003549	Abnormality of connective tissue	9653	HS2ST1	OMIM:619194
HP:0003549	Abnormality of connective tissue	9051	PSTPIP1	OMIM:604416
HP:0003549	Abnormality of connective tissue	9894	TELO2	ORPHA:488642
HP:0003549	Abnormality of connective tissue	285175	UNC80	ORPHA:371364
HP:0003549	Abnormality of connective tissue	84992	PIGY	OMIM:616809
HP:0003549	Abnormality of connective tissue	10613	ERLIN1	ORPHA:401785
HP:0003549	Abnormality of connective tissue	2222	FDFT1	OMIM:618156
HP:0003549	Abnormality of connective tissue	83636	C19orf12	OMIM:615043
HP:0003549	Abnormality of connective tissue	4773	NFATC2	OMIM:620232
HP:0003549	Abnormality of connective tissue	1376	CPT2	OMIM:608836
HP:0003549	Abnormality of connective tissue	5296	PIK3R2	OMIM:603387
HP:0003549	Abnormality of connective tissue	23387	SIK3	OMIM:618162
HP:0003549	Abnormality of connective tissue	5745	PTH1R	OMIM:156400
HP:0003549	Abnormality of connective tissue	644096	SDHAF1	ORPHA:3208
HP:0003549	Abnormality of connective tissue	64116	SLC39A8	ORPHA:468699
HP:0003549	Abnormality of connective tissue	8449	DHX16	OMIM:618733
HP:0003549	Abnormality of connective tissue	1605	DAG1	OMIM:613818
HP:0003549	Abnormality of connective tissue	1605	DAG1	ORPHA:280333
HP:0003549	Abnormality of connective tissue	55958	KLHL9	ORPHA:399081
HP:0003549	Abnormality of connective tissue	87178	PNPT1	ORPHA:319514
HP:0003549	Abnormality of connective tissue	210	ALAD	ORPHA:100924
HP:0003549	Abnormality of connective tissue	513	ATP5F1D	OMIM:618120
HP:0003549	Abnormality of connective tissue	57731	SPTBN4	OMIM:617519
HP:0003549	Abnormality of connective tissue	497661	C18orf32	OMIM:619985
HP:0003549	Abnormality of connective tissue	7407	VARS1	OMIM:617802
HP:0003549	Abnormality of connective tissue	9896	FIG4	OMIM:611228
HP:0003549	Abnormality of connective tissue	57688	ZSWIM6	ORPHA:1827
HP:0003549	Abnormality of connective tissue	5295	PIK3R1	OMIM:269880
HP:0003549	Abnormality of connective tissue	5557	PRIM1	OMIM:620005
HP:0003549	Abnormality of connective tissue	7040	TGFB1	ORPHA:1328
HP:0003549	Abnormality of connective tissue	79718	TBL1XR1	ORPHA:487825
HP:0003549	Abnormality of connective tissue	65055	REEP1	OMIM:620011
HP:0003549	Abnormality of connective tissue	51305	KCNK9	ORPHA:166108
HP:0003549	Abnormality of connective tissue	4312	MMP1	ORPHA:79408
HP:0003549	Abnormality of connective tissue	2972	BRF1	ORPHA:444072
HP:0003549	Abnormality of connective tissue	23259	DDHD2	ORPHA:320380
HP:0003549	Abnormality of connective tissue	54828	BCAS3	OMIM:619641
HP:0003549	Abnormality of connective tissue	51651	PTRH2	ORPHA:456312
HP:0003549	Abnormality of connective tissue	1235	CCR6	ORPHA:220402
HP:0003549	Abnormality of connective tissue	79932	KIAA0319L	ORPHA:220402
HP:0003549	Abnormality of connective tissue	1490	CCN2	ORPHA:220402
HP:0003549	Abnormality of connective tissue	3663	IRF5	ORPHA:220402
HP:0003549	Abnormality of connective tissue	857	CAV1	ORPHA:220402
HP:0003549	Abnormality of connective tissue	3123	HLA-DRB1	ORPHA:220402
HP:0003549	Abnormality of connective tissue	1161	ERCC8	ORPHA:90321
HP:0003549	Abnormality of connective tissue	2072	ERCC4	ORPHA:90321
HP:0003549	Abnormality of connective tissue	641	BLM	ORPHA:125
HP:0003549	Abnormality of connective tissue	2353	FOS	ORPHA:528
HP:0003549	Abnormality of connective tissue	400916	CHCHD10	ORPHA:276435
HP:0003549	Abnormality of connective tissue	208	AKT2	ORPHA:79085
HP:0003549	Abnormality of connective tissue	8291	DYSF	OMIM:253601
HP:0003549	Abnormality of connective tissue	55679	LIMS2	OMIM:616827
HP:0003549	Abnormality of connective tissue	7026	NR2F2	OMIM:618901
HP:0003549	Abnormality of connective tissue	79133	NDUFAF5	OMIM:618238
HP:0003549	Abnormality of connective tissue	8854	ALDH1A2	OMIM:620025
HP:0003549	Abnormality of connective tissue	7305	TYROBP	ORPHA:2770
HP:0003549	Abnormality of connective tissue	54209	TREM2	ORPHA:2770
HP:0003549	Abnormality of connective tissue	440138	ALG11	ORPHA:280071
HP:0003549	Abnormality of connective tissue	27183	VPS4A	OMIM:619273
HP:0003549	Abnormality of connective tissue	213	ALB	OMIM:616000
HP:0003549	Abnormality of connective tissue	213	ALB	ORPHA:86816
HP:0003549	Abnormality of connective tissue	1650	DDOST	ORPHA:300536
HP:0003549	Abnormality of connective tissue	51371	POMP	OMIM:618048
HP:0003549	Abnormality of connective tissue	1777	DNASE2	OMIM:619858
HP:0003549	Abnormality of connective tissue	64788	LMF1	OMIM:246650
HP:0003549	Abnormality of connective tissue	5122	PCSK1	ORPHA:71528
HP:0003549	Abnormality of connective tissue	51763	INPP5K	OMIM:617404
HP:0003549	Abnormality of connective tissue	4160	MC4R	ORPHA:71529
HP:0003549	Abnormality of connective tissue	5443	POMC	ORPHA:71526
HP:0003549	Abnormality of connective tissue	5307	PITX1	OMIM:186550
HP:0003549	Abnormality of connective tissue	219854	TMEM218	OMIM:619562
HP:0003549	Abnormality of connective tissue	79912	PYROXD1	OMIM:617258
HP:0003549	Abnormality of connective tissue	9757	KMT2B	OMIM:619934
HP:0003549	Abnormality of connective tissue	3720	JARID2	OMIM:620098
HP:0003549	Abnormality of connective tissue	11011	TLK2	OMIM:618050
HP:0003549	Abnormality of connective tissue	6909	TBX2	OMIM:618223
HP:0003549	Abnormality of connective tissue	80816	ASXL3	OMIM:615485
HP:0003549	Abnormality of connective tissue	57449	PLEKHG5	OMIM:611067
HP:0003549	Abnormality of connective tissue	5376	PMP22	ORPHA:90658
HP:0003549	Abnormality of connective tissue	23327	NEDD4L	OMIM:617201
HP:0003549	Abnormality of connective tissue	8985	PLOD3	OMIM:612394
HP:0003549	Abnormality of connective tissue	4010	LMX1B	ORPHA:2614
HP:0003549	Abnormality of connective tissue	6662	SOX9	OMIM:114290
HP:0003549	Abnormality of connective tissue	4297	KMT2A	OMIM:605130
HP:0003549	Abnormality of connective tissue	7249	TSC2	OMIM:613254
HP:0003549	Abnormality of connective tissue	7249	TSC2	ORPHA:805
HP:0003549	Abnormality of connective tissue	7249	TSC2	ORPHA:538
HP:0003549	Abnormality of connective tissue	3458	IFNG	OMIM:613254
HP:0003549	Abnormality of connective tissue	3458	IFNG	ORPHA:805
HP:0003549	Abnormality of connective tissue	7248	TSC1	OMIM:191100
HP:0003549	Abnormality of connective tissue	1387	CREBBP	ORPHA:353281
HP:0003549	Abnormality of connective tissue	1387	CREBBP	OMIM:180849
HP:0003549	Abnormality of connective tissue	1387	CREBBP	ORPHA:353277
HP:0003549	Abnormality of connective tissue	4854	NOTCH3	OMIM:130720
HP:0003549	Abnormality of connective tissue	5159	PDGFRB	OMIM:601812
HP:0003549	Abnormality of connective tissue	23592	LEMD3	ORPHA:166119
HP:0003549	Abnormality of connective tissue	2033	EP300	OMIM:180849
HP:0003549	Abnormality of connective tissue	2033	EP300	ORPHA:353284
HP:0003549	Abnormality of connective tissue	324	APC	OMIM:175100
HP:0003549	Abnormality of connective tissue	324	APC	ORPHA:79665
HP:0003549	Abnormality of connective tissue	1294	COL7A1	ORPHA:79410
HP:0003549	Abnormality of connective tissue	1834	DSPP	OMIM:125420
HP:0003549	Abnormality of connective tissue	84957	RELT	OMIM:618386
HP:0003549	Abnormality of connective tissue	256764	WDR72	OMIM:613211
HP:0003549	Abnormality of connective tissue	10483	SEC23B	ORPHA:201
HP:0003549	Abnormality of connective tissue	6392	SDHD	ORPHA:201
HP:0003549	Abnormality of connective tissue	6391	SDHC	ORPHA:201
HP:0003549	Abnormality of connective tissue	205717	USF3	ORPHA:201
HP:0003549	Abnormality of connective tissue	100144748	KLLN	ORPHA:201
HP:0003549	Abnormality of connective tissue	6872	TAF1	ORPHA:480907
HP:0003549	Abnormality of connective tissue	79577	CDC73	ORPHA:143
HP:0003549	Abnormality of connective tissue	79577	CDC73	ORPHA:99880
HP:0003549	Abnormality of connective tissue	3008	H1-4	OMIM:617537
HP:0003549	Abnormality of connective tissue	9382	COG1	OMIM:611209
HP:0003549	Abnormality of connective tissue	57231	SNX14	ORPHA:397709
HP:0003549	Abnormality of connective tissue	57231	SNX14	OMIM:616354
HP:0003549	Abnormality of connective tissue	7125	TNNC2	OMIM:620161
HP:0003549	Abnormality of connective tissue	56992	KIF15	ORPHA:261323
HP:0003549	Abnormality of connective tissue	57589	RIC1	OMIM:618761
HP:0003549	Abnormality of connective tissue	80776	B9D2	OMIM:614175
HP:0003549	Abnormality of connective tissue	1954	MEGF8	OMIM:614976
HP:0003549	Abnormality of connective tissue	23314	SATB2	OMIM:612313
HP:0003549	Abnormality of connective tissue	8642	DCHS1	OMIM:601390
HP:0003549	Abnormality of connective tissue	8642	DCHS1	ORPHA:314679
HP:0003549	Abnormality of connective tissue	79053	ALG8	OMIM:608104
HP:0003549	Abnormality of connective tissue	79053	ALG8	ORPHA:79325
HP:0003549	Abnormality of connective tissue	26227	PHGDH	OMIM:256520
HP:0003549	Abnormality of connective tissue	57167	SALL4	ORPHA:233
HP:0003549	Abnormality of connective tissue	1123	CHN1	ORPHA:233
HP:0003549	Abnormality of connective tissue	3572	IL6ST	OMIM:619751
HP:0003549	Abnormality of connective tissue	7862	BRPF1	OMIM:617333
HP:0003549	Abnormality of connective tissue	1001	CDH3	OMIM:225280
HP:0003549	Abnormality of connective tissue	5828	PEX2	OMIM:614866
HP:0003549	Abnormality of connective tissue	79228	THOC6	ORPHA:363444
HP:0003549	Abnormality of connective tissue	4094	MAF	ORPHA:1272
HP:0003549	Abnormality of connective tissue	4094	MAF	OMIM:601088
HP:0003549	Abnormality of connective tissue	11107	PRDM5	ORPHA:90354
HP:0003549	Abnormality of connective tissue	8813	DPM1	OMIM:608799
HP:0003549	Abnormality of connective tissue	8813	DPM1	ORPHA:79322
HP:0003549	Abnormality of connective tissue	79087	ALG12	ORPHA:79324
HP:0003549	Abnormality of connective tissue	26100	WIPI2	OMIM:618453
HP:0003549	Abnormality of connective tissue	8621	CDK13	OMIM:617360
HP:0003549	Abnormality of connective tissue	9427	ECEL1	OMIM:615065
HP:0003549	Abnormality of connective tissue	2702	GJA5	OMIM:612474
HP:0003549	Abnormality of connective tissue	2703	GJA8	OMIM:612474
HP:0003549	Abnormality of connective tissue	1801	DPH1	ORPHA:459061
HP:0003549	Abnormality of connective tissue	81848	SPRY4	ORPHA:432
HP:0003549	Abnormality of connective tissue	128674	PROKR2	ORPHA:432
HP:0003549	Abnormality of connective tissue	60675	PROK2	ORPHA:432
HP:0003549	Abnormality of connective tissue	55636	CHD7	ORPHA:432
HP:0003549	Abnormality of connective tissue	6870	TACR3	ORPHA:432
HP:0003549	Abnormality of connective tissue	1848	DUSP6	ORPHA:432
HP:0003549	Abnormality of connective tissue	26012	NSMF	ORPHA:432
HP:0003549	Abnormality of connective tissue	55717	WDR11	ORPHA:432
HP:0003549	Abnormality of connective tissue	9394	HS6ST1	ORPHA:432
HP:0003549	Abnormality of connective tissue	2796	GNRH1	ORPHA:432
HP:0003549	Abnormality of connective tissue	2798	GNRHR	ORPHA:432
HP:0003549	Abnormality of connective tissue	84634	KISS1R	ORPHA:432
HP:0003549	Abnormality of connective tissue	6866	TAC3	ORPHA:432
HP:0003549	Abnormality of connective tissue	8822	FGF17	ORPHA:432
HP:0003549	Abnormality of connective tissue	3814	KISS1	ORPHA:432
HP:0003549	Abnormality of connective tissue	9158	FIBP	ORPHA:500095
HP:0003549	Abnormality of connective tissue	54808	DYM	OMIM:223800
HP:0003549	Abnormality of connective tissue	28982	FLVCR1	ORPHA:88628
HP:0003549	Abnormality of connective tissue	28982	FLVCR1	OMIM:609033
HP:0003549	Abnormality of connective tissue	56915	EXOSC5	OMIM:619576
HP:0003549	Abnormality of connective tissue	92255	LMBRD2	OMIM:619694
HP:0003549	Abnormality of connective tissue	23511	NUP188	OMIM:618804
HP:0003549	Abnormality of connective tissue	92344	GORAB	OMIM:231070
HP:0003549	Abnormality of connective tissue	727857	BHLHA9	OMIM:607539
HP:0003549	Abnormality of connective tissue	10943	MSL3	OMIM:301032
HP:0003549	Abnormality of connective tissue	633	BGN	OMIM:300989
HP:0003549	Abnormality of connective tissue	79576	NKAP	OMIM:301039
HP:0003549	Abnormality of connective tissue	25	ABL1	OMIM:617602
HP:0003549	Abnormality of connective tissue	3930	LBR	OMIM:618019
HP:0003549	Abnormality of connective tissue	26040	SETBP1	ORPHA:798
HP:0003549	Abnormality of connective tissue	6611	SMS	ORPHA:3063
HP:0003549	Abnormality of connective tissue	51715	RAB23	OMIM:201000
HP:0003549	Abnormality of connective tissue	83737	ITCH	OMIM:613385
HP:0003549	Abnormality of connective tissue	83737	ITCH	ORPHA:228426
HP:0003549	Abnormality of connective tissue	90416	CCDC32	OMIM:619123
HP:0003549	Abnormality of connective tissue	139285	AMER1	OMIM:300373
HP:0003549	Abnormality of connective tissue	10084	PQBP1	OMIM:309500
HP:0003549	Abnormality of connective tissue	9487	PIGL	OMIM:280000
HP:0003549	Abnormality of connective tissue	3868	KRT16	ORPHA:2199
HP:0003549	Abnormality of connective tissue	3857	KRT9	ORPHA:2199
HP:0003549	Abnormality of connective tissue	6913	TBX15	OMIM:260660
HP:0003549	Abnormality of connective tissue	2036	EPB41L1	OMIM:614257
HP:0003549	Abnormality of connective tissue	523	ATP6V1A	OMIM:617403
HP:0003549	Abnormality of connective tissue	529	ATP6V1E1	OMIM:617402
HP:0003549	Abnormality of connective tissue	4233	MET	OMIM:620019
HP:0003549	Abnormality of connective tissue	114803	MYSM1	ORPHA:508542
HP:0003549	Abnormality of connective tissue	355	FAS	ORPHA:3261
HP:0003549	Abnormality of connective tissue	356	FASLG	ORPHA:3261
HP:0003549	Abnormality of connective tissue	5580	PRKCD	ORPHA:3261
HP:0003549	Abnormality of connective tissue	843	CASP10	ORPHA:3261
HP:0003549	Abnormality of connective tissue	10125	RASGRP1	ORPHA:3261
HP:0003549	Abnormality of connective tissue	84868	HAVCR2	OMIM:618398
HP:0003549	Abnormality of connective tissue	84868	HAVCR2	ORPHA:86884
HP:0003549	Abnormality of connective tissue	90268	OTULIN	OMIM:617099
HP:0003549	Abnormality of connective tissue	51816	ADA2	OMIM:615688
HP:0003549	Abnormality of connective tissue	3832	KIF11	ORPHA:2526
HP:0003549	Abnormality of connective tissue	3932	LCK	OMIM:615758
HP:0003549	Abnormality of connective tissue	26580	BSCL2	ORPHA:363400
HP:0003549	Abnormality of connective tissue	26580	BSCL2	OMIM:269700
HP:0003549	Abnormality of connective tissue	10555	AGPAT2	OMIM:608594
HP:0003549	Abnormality of connective tissue	7490	WT1	OMIM:194080
HP:0003549	Abnormality of connective tissue	6231	RPS26	OMIM:613309
HP:0003549	Abnormality of connective tissue	8493	PPM1D	OMIM:617450
HP:0003549	Abnormality of connective tissue	5566	PRKACA	OMIM:615830
HP:0003549	Abnormality of connective tissue	5566	PRKACA	ORPHA:189439
HP:0003549	Abnormality of connective tissue	79798	ARMC5	ORPHA:189427
HP:0003549	Abnormality of connective tissue	2778	GNAS	ORPHA:189427
HP:0003549	Abnormality of connective tissue	8622	PDE8B	ORPHA:189439
HP:0003549	Abnormality of connective tissue	5573	PRKAR1A	ORPHA:189439
HP:0003549	Abnormality of connective tissue	5573	PRKAR1A	ORPHA:1359
HP:0003549	Abnormality of connective tissue	50940	PDE11A	ORPHA:189439
HP:0003549	Abnormality of connective tissue	50940	PDE11A	ORPHA:1359
HP:0003549	Abnormality of connective tissue	7840	ALMS1	ORPHA:64
HP:0003549	Abnormality of connective tissue	84196	USP48	ORPHA:96253
HP:0003549	Abnormality of connective tissue	7157	TP53	ORPHA:96253
HP:0003549	Abnormality of connective tissue	9101	USP8	ORPHA:96253
HP:0003549	Abnormality of connective tissue	64072	CDH23	ORPHA:96253
HP:0003549	Abnormality of connective tissue	2908	NR3C1	ORPHA:96253
HP:0003549	Abnormality of connective tissue	673	BRAF	ORPHA:96253
HP:0003549	Abnormality of connective tissue	546	ATRX	ORPHA:96253
HP:0003549	Abnormality of connective tissue	93587	TRMT10A	ORPHA:391408
HP:0003549	Abnormality of connective tissue	93587	TRMT10A	OMIM:616033
HP:0003549	Abnormality of connective tissue	84919	PPP1R15B	ORPHA:391408
HP:0003549	Abnormality of connective tissue	64065	PERP	OMIM:619208
HP:0003549	Abnormality of connective tissue	5351	PLOD1	ORPHA:1900
HP:0003549	Abnormality of connective tissue	9578	CDC42BPB	OMIM:619841
HP:0003549	Abnormality of connective tissue	1272	CNTN1	OMIM:612540
HP:0003549	Abnormality of connective tissue	5885	RAD21	OMIM:614701
HP:0003549	Abnormality of connective tissue	64423	INF2	OMIM:614455
HP:0003549	Abnormality of connective tissue	10397	NDRG1	OMIM:601455
HP:0003549	Abnormality of connective tissue	3315	HSPB1	OMIM:606595
HP:0003549	Abnormality of connective tissue	8566	PDXK	OMIM:618511
HP:0003549	Abnormality of connective tissue	3098	HK1	OMIM:605285
HP:0003549	Abnormality of connective tissue	57038	RARS2	OMIM:611523
HP:0003549	Abnormality of connective tissue	80347	COASY	OMIM:618266
HP:0003549	Abnormality of connective tissue	197258	FCSK	OMIM:618324
HP:0003549	Abnormality of connective tissue	2530	FUT8	OMIM:618005
HP:0003549	Abnormality of connective tissue	11019	LIAS	OMIM:614462
HP:0003549	Abnormality of connective tissue	54892	NCAPG2	OMIM:618460
HP:0003549	Abnormality of connective tissue	51501	HIKESHI	OMIM:616881
HP:0003549	Abnormality of connective tissue	9255	AIMP1	OMIM:260600
HP:0003549	Abnormality of connective tissue	56270	WDR45B	OMIM:617977
HP:0003549	Abnormality of connective tissue	5111	PCNA	OMIM:615919
HP:0003549	Abnormality of connective tissue	145258	GSC	OMIM:602471
HP:0003549	Abnormality of connective tissue	5424	POLD1	OMIM:615381
HP:0003549	Abnormality of connective tissue	58497	PRUNE1	OMIM:617481
HP:0003549	Abnormality of connective tissue	65993	MRPS34	OMIM:617664
HP:0003549	Abnormality of connective tissue	55331	ACER3	OMIM:617762
HP:0003549	Abnormality of connective tissue	55640	FLVCR2	OMIM:225790
HP:0003549	Abnormality of connective tissue	2893	GRIA4	OMIM:617864
HP:0003549	Abnormality of connective tissue	23534	TNPO3	OMIM:608423
HP:0003549	Abnormality of connective tissue	374393	FAM111B	OMIM:615704
HP:0003549	Abnormality of connective tissue	5528	PPP2R5D	ORPHA:457279
HP:0003549	Abnormality of connective tissue	2218	FKTN	ORPHA:272
HP:0003549	Abnormality of connective tissue	4621	MYH3	ORPHA:2053
HP:0003549	Abnormality of connective tissue	4621	MYH3	ORPHA:1146
HP:0003549	Abnormality of connective tissue	4621	MYH3	ORPHA:2990
HP:0003549	Abnormality of connective tissue	259232	NALCN	ORPHA:2053
HP:0003549	Abnormality of connective tissue	259232	NALCN	ORPHA:1146
HP:0003549	Abnormality of connective tissue	8294	H4C9	OMIM:619951
HP:0003549	Abnormality of connective tissue	3094	HINT1	ORPHA:324442
HP:0003549	Abnormality of connective tissue	8838	CCN6	OMIM:208230
HP:0003549	Abnormality of connective tissue	1947	EFNB1	ORPHA:1520
HP:0003549	Abnormality of connective tissue	7355	SLC35A2	ORPHA:356961
HP:0003549	Abnormality of connective tissue	118429	ANTXR2	ORPHA:2176
HP:0003549	Abnormality of connective tissue	5077	PAX3	ORPHA:1529
HP:0003549	Abnormality of connective tissue	5077	PAX3	ORPHA:896
HP:0003549	Abnormality of connective tissue	5077	PAX3	OMIM:148820
HP:0003549	Abnormality of connective tissue	2316	FLNA	OMIM:300244
HP:0003549	Abnormality of connective tissue	2316	FLNA	ORPHA:90652
HP:0003549	Abnormality of connective tissue	2316	FLNA	ORPHA:1826
HP:0003549	Abnormality of connective tissue	2316	FLNA	OMIM:305620
HP:0003549	Abnormality of connective tissue	9241	NOG	ORPHA:3250
HP:0003549	Abnormality of connective tissue	8200	GDF5	ORPHA:3250
HP:0003549	Abnormality of connective tissue	54968	TMEM70	ORPHA:1194
HP:0003549	Abnormality of connective tissue	613	BCR	ORPHA:261330
HP:0003549	Abnormality of connective tissue	1399	CRKL	ORPHA:261330
HP:0003549	Abnormality of connective tissue	5594	MAPK1	ORPHA:261330
HP:0003549	Abnormality of connective tissue	84466	MEGF10	OMIM:614399
HP:0003549	Abnormality of connective tissue	72	ACTG2	ORPHA:2604
HP:0003549	Abnormality of connective tissue	10216	PRG4	ORPHA:2848
HP:0003549	Abnormality of connective tissue	3508	IGHMBP2	OMIM:604320
HP:0003549	Abnormality of connective tissue	6926	TBX3	ORPHA:3138
HP:0003549	Abnormality of connective tissue	51360	MBTPS2	ORPHA:2273
HP:0003549	Abnormality of connective tissue	10381	TUBB3	OMIM:600638
HP:0003549	Abnormality of connective tissue	9469	CHST3	OMIM:143095
HP:0003549	Abnormality of connective tissue	3423	IDS	ORPHA:217085
HP:0003549	Abnormality of connective tissue	3423	IDS	ORPHA:217093
HP:0003549	Abnormality of connective tissue	64359	NXN	ORPHA:1507
HP:0003549	Abnormality of connective tissue	4920	ROR2	ORPHA:1507
HP:0003549	Abnormality of connective tissue	2697	GJA1	ORPHA:2710
HP:0003549	Abnormality of connective tissue	2697	GJA1	ORPHA:93404
HP:0003549	Abnormality of connective tissue	64127	NOD2	OMIM:186580
HP:0003549	Abnormality of connective tissue	64127	NOD2	ORPHA:90340
HP:0003549	Abnormality of connective tissue	6999	TDO2	OMIM:600627
HP:0003549	Abnormality of connective tissue	1301	COL11A1	ORPHA:2021
HP:0003549	Abnormality of connective tissue	1302	COL11A2	ORPHA:2021
HP:0003549	Abnormality of connective tissue	10716	TBR1	ORPHA:1617
HP:0003549	Abnormality of connective tissue	3425	IDUA	OMIM:607015
HP:0003549	Abnormality of connective tissue	3425	IDUA	ORPHA:93473
HP:0003549	Abnormality of connective tissue	4593	MUSK	OMIM:208150
HP:0003549	Abnormality of connective tissue	4593	MUSK	ORPHA:994
HP:0003549	Abnormality of connective tissue	63895	PIEZO2	OMIM:114300
HP:0003549	Abnormality of connective tissue	63895	PIEZO2	ORPHA:376
HP:0003549	Abnormality of connective tissue	63895	PIEZO2	ORPHA:2461
HP:0003549	Abnormality of connective tissue	56006	SMG9	OMIM:616920
HP:0003549	Abnormality of connective tissue	1857	DVL3	ORPHA:3107
HP:0003549	Abnormality of connective tissue	7474	WNT5A	ORPHA:3107
HP:0003549	Abnormality of connective tissue	1855	DVL1	ORPHA:3107
HP:0003549	Abnormality of connective tissue	2535	FZD2	ORPHA:3107
HP:0003549	Abnormality of connective tissue	9508	ADAMTS3	ORPHA:2136
HP:0003549	Abnormality of connective tissue	147372	CCBE1	ORPHA:2136
HP:0003549	Abnormality of connective tissue	79633	FAT4	ORPHA:2136
HP:0003549	Abnormality of connective tissue	5189	PEX1	ORPHA:3220
HP:0003549	Abnormality of connective tissue	5190	PEX6	ORPHA:3220
HP:0003549	Abnormality of connective tissue	5590	PRKCZ	ORPHA:1606
HP:0003549	Abnormality of connective tissue	2563	GABRD	ORPHA:1606
HP:0003549	Abnormality of connective tissue	23013	SPEN	ORPHA:1606
HP:0003549	Abnormality of connective tissue	8510	MMP23B	ORPHA:1606
HP:0003549	Abnormality of connective tissue	7798	LUZP1	ORPHA:1606
HP:0003549	Abnormality of connective tissue	6497	SKI	ORPHA:1606
HP:0003549	Abnormality of connective tissue	6497	SKI	ORPHA:2462
HP:0003549	Abnormality of connective tissue	10630	PDPN	ORPHA:1606
HP:0003549	Abnormality of connective tissue	3339	HSPG2	ORPHA:1606
HP:0003549	Abnormality of connective tissue	10277	UBE4B	ORPHA:1606
HP:0003549	Abnormality of connective tissue	8514	KCNAB2	ORPHA:1606
HP:0003549	Abnormality of connective tissue	473	RERE	ORPHA:1606
HP:0003549	Abnormality of connective tissue	63976	PRDM16	ORPHA:1606
HP:0003549	Abnormality of connective tissue	54897	CASZ1	ORPHA:1606
HP:0003549	Abnormality of connective tissue	9719	ADAMTSL2	OMIM:231050
HP:0003549	Abnormality of connective tissue	4952	OCRL	OMIM:309000
HP:0003549	Abnormality of connective tissue	8517	IKBKG	ORPHA:464
HP:0003549	Abnormality of connective tissue	10436	EMG1	ORPHA:1270
HP:0003549	Abnormality of connective tissue	57492	ARID1B	ORPHA:251056
HP:0003549	Abnormality of connective tissue	11128	POLR3A	ORPHA:3455
HP:0003549	Abnormality of connective tissue	2239	GPC4	ORPHA:373
HP:0003549	Abnormality of connective tissue	2719	GPC3	ORPHA:373
HP:0003549	Abnormality of connective tissue	55612	FERMT1	ORPHA:2908
HP:0003549	Abnormality of connective tissue	3977	LIFR	ORPHA:3206
HP:0003549	Abnormality of connective tissue	23483	TGDS	ORPHA:1388
HP:0003549	Abnormality of connective tissue	2260	FGFR1	OMIM:166250
HP:0003549	Abnormality of connective tissue	7140	TNNT3	ORPHA:1146
HP:0003549	Abnormality of connective tissue	7169	TPM2	ORPHA:1146
HP:0003549	Abnormality of connective tissue	7136	TNNI2	ORPHA:1146
HP:0003549	Abnormality of connective tissue	7136	TNNI2	OMIM:601680
HP:0003549	Abnormality of connective tissue	4604	MYBPC1	ORPHA:1146
HP:0003549	Abnormality of connective tissue	6885	MAP3K7	ORPHA:1826
HP:0003549	Abnormality of connective tissue	117581	TWIST2	ORPHA:920
HP:0003549	Abnormality of connective tissue	64324	NSD1	ORPHA:3447
HP:0003549	Abnormality of connective tissue	8726	EED	ORPHA:3447
HP:0003549	Abnormality of connective tissue	23512	SUZ12	ORPHA:3447
HP:0003549	Abnormality of connective tissue	2146	EZH2	ORPHA:3447
HP:0003549	Abnormality of connective tissue	1723	DHODH	ORPHA:246
HP:0003549	Abnormality of connective tissue	257	ALX3	ORPHA:391474
HP:0003549	Abnormality of connective tissue	3239	HOXD13	OMIM:186300
HP:0003549	Abnormality of connective tissue	3239	HOXD13	ORPHA:93406
HP:0003549	Abnormality of connective tissue	54903	MKS1	OMIM:249000
HP:0003549	Abnormality of connective tissue	91252	SLC39A13	OMIM:612350
HP:0003549	Abnormality of connective tissue	22930	RAB3GAP1	OMIM:619420
HP:0003549	Abnormality of connective tissue	7046	TGFBR1	ORPHA:60030
HP:0003549	Abnormality of connective tissue	10526	IPO8	ORPHA:60030
HP:0003549	Abnormality of connective tissue	7048	TGFBR2	ORPHA:60030
HP:0003549	Abnormality of connective tissue	3897	L1CAM	ORPHA:2466
HP:0003549	Abnormality of connective tissue	2245	FGD1	ORPHA:915
HP:0003549	Abnormality of connective tissue	2200	FBN1	ORPHA:2462
HP:0003549	Abnormality of connective tissue	2201	FBN2	ORPHA:115
HP:0003549	Abnormality of connective tissue	7227	TRPS1	ORPHA:77258
HP:0003549	Abnormality of connective tissue	4088	SMAD3	ORPHA:284984
HP:0003549	Abnormality of connective tissue	27238	GPKOW	ORPHA:2570
HP:0003549	Abnormality of connective tissue	10466	COG5	ORPHA:263487
HP:0003549	Abnormality of connective tissue	55315	SLC29A3	OMIM:602782
HP:0003549	Abnormality of connective tissue	23102	TBC1D2B	OMIM:619323
HP:0003549	Abnormality of connective tissue	2068	ERCC2	OMIM:610756
HP:0003549	Abnormality of connective tissue	2068	ERCC2	ORPHA:1466
HP:0003549	Abnormality of connective tissue	51114	ZDHHC9	ORPHA:776
HP:0003549	Abnormality of connective tissue	65109	UPF3B	ORPHA:776
HP:0003549	Abnormality of connective tissue	9968	MED12	ORPHA:776
HP:0003549	Abnormality of connective tissue	2067	ERCC1	OMIM:610758
HP:0003549	Abnormality of connective tissue	2067	ERCC1	ORPHA:1466
HP:0003549	Abnormality of connective tissue	114548	NLRP3	ORPHA:575
HP:0003549	Abnormality of connective tissue	2074	ERCC6	ORPHA:1466
HP:0003549	Abnormality of connective tissue	2073	ERCC5	ORPHA:1466
HP:0003549	Abnormality of connective tissue	134701	RIPPLY2	ORPHA:2311
HP:0003549	Abnormality of connective tissue	10683	DLL3	ORPHA:2311
HP:0003549	Abnormality of connective tissue	3955	LFNG	ORPHA:2311
HP:0003549	Abnormality of connective tissue	84667	HES7	ORPHA:2311
HP:0003549	Abnormality of connective tissue	145873	MESP2	ORPHA:2311
HP:0003549	Abnormality of connective tissue	81620	CDT1	ORPHA:2554
HP:0003549	Abnormality of connective tissue	5000	ORC4	ORPHA:2554
HP:0003549	Abnormality of connective tissue	23594	ORC6	ORPHA:2554
HP:0003549	Abnormality of connective tissue	8318	CDC45	ORPHA:2554
HP:0003549	Abnormality of connective tissue	990	CDC6	ORPHA:2554
HP:0003549	Abnormality of connective tissue	4998	ORC1	ORPHA:2554
HP:0003549	Abnormality of connective tissue	51053	GMNN	ORPHA:2554
HP:0003549	Abnormality of connective tissue	8260	NAA10	ORPHA:568
HP:0003549	Abnormality of connective tissue	54880	BCOR	ORPHA:568
HP:0003549	Abnormality of connective tissue	64327	LMBR1	ORPHA:93405
HP:0003549	Abnormality of connective tissue	6469	SHH	ORPHA:93405
HP:0003549	Abnormality of connective tissue	4927	NUP88	ORPHA:994
HP:0003549	Abnormality of connective tissue	7846	TUBA1A	ORPHA:994
HP:0003549	Abnormality of connective tissue	4654	MYOD1	ORPHA:994
HP:0003549	Abnormality of connective tissue	5913	RAPSN	ORPHA:994
HP:0003549	Abnormality of connective tissue	6572	SLC18A3	ORPHA:994
HP:0003549	Abnormality of connective tissue	285489	DOK7	ORPHA:994
HP:0003549	Abnormality of connective tissue	3914	LAMB3	OMIM:226650
HP:0003549	Abnormality of connective tissue	9150	CTDP1	ORPHA:48431
HP:0003549	Abnormality of connective tissue	8092	ALX1	ORPHA:306542
HP:0003549	Abnormality of connective tissue	29895	MYL11	OMIM:619110
HP:0003549	Abnormality of connective tissue	64840	PORCN	ORPHA:2092
HP:0003549	Abnormality of connective tissue	23443	SLC35A3	OMIM:615553
HP:0003549	Abnormality of connective tissue	285590	SH3PXD2B	ORPHA:137834
HP:0003549	Abnormality of connective tissue	1836	SLC26A2	ORPHA:628
HP:0003549	Abnormality of connective tissue	25914	RTTN	ORPHA:468631
HP:0003549	Abnormality of connective tissue	9935	MAFB	ORPHA:2774
HP:0003549	Abnormality of connective tissue	28952	CCDC22	OMIM:300963
HP:0003549	Abnormality of connective tissue	8450	CUL4B	ORPHA:85293
HP:0003549	Abnormality of connective tissue	1303	COL12A1	ORPHA:610
HP:0003549	Abnormality of connective tissue	1291	COL6A1	ORPHA:610
HP:0003549	Abnormality of connective tissue	1291	COL6A1	OMIM:158810
HP:0003549	Abnormality of connective tissue	1292	COL6A2	ORPHA:610
HP:0003549	Abnormality of connective tissue	1292	COL6A2	OMIM:158810
HP:0003549	Abnormality of connective tissue	1293	COL6A3	ORPHA:610
HP:0003549	Abnormality of connective tissue	1293	COL6A3	OMIM:158810
HP:0003549	Abnormality of connective tissue	26092	TOR1AIP1	OMIM:617072
HP:0003549	Abnormality of connective tissue	8242	KDM5C	ORPHA:85279
HP:0003549	Abnormality of connective tissue	59341	TRPV4	ORPHA:2635
HP:0003549	Abnormality of connective tissue	2261	FGFR3	ORPHA:85164
HP:0003549	Abnormality of connective tissue	4000	LMNA	ORPHA:1662
HP:0003549	Abnormality of connective tissue	10269	ZMPSTE24	ORPHA:1662
HP:0003549	Abnormality of connective tissue	1146	CHRNG	ORPHA:2990
HP:0003549	Abnormality of connective tissue	23522	KAT6B	ORPHA:3047
HP:0003549	Abnormality of connective tissue	26123	TCTN3	ORPHA:2753
HP:0003549	Abnormality of connective tissue	64131	XYLT1	ORPHA:1425
HP:0003549	Abnormality of connective tissue	124583	CANT1	ORPHA:1425
HP:0003549	Abnormality of connective tissue	55790	CSGALNACT1	ORPHA:1425
HP:0003549	Abnormality of connective tissue	23529	CLCF1	ORPHA:1545
HP:0003549	Abnormality of connective tissue	9244	CRLF1	ORPHA:1545
HP:0003549	Abnormality of connective tissue	51002	TPRKB	ORPHA:2065
HP:0003549	Abnormality of connective tissue	84942	WDR73	ORPHA:2065
HP:0003549	Abnormality of connective tissue	55644	OSGEP	ORPHA:2065
HP:0003549	Abnormality of connective tissue	57122	NUP107	ORPHA:2065
HP:0003549	Abnormality of connective tissue	10785	WDR4	ORPHA:2065
HP:0003549	Abnormality of connective tissue	55746	NUP133	ORPHA:2065
HP:0003549	Abnormality of connective tissue	112858	TP53RK	ORPHA:2065
HP:0003549	Abnormality of connective tissue	8270	LAGE3	ORPHA:2065
HP:0003549	Abnormality of connective tissue	5696	PSMB8	OMIM:256040
HP:0003549	Abnormality of connective tissue	56916	SMARCAD1	ORPHA:1658
HP:0003549	Abnormality of connective tissue	9015	TAF1A	ORPHA:154
HP:0003549	Abnormality of connective tissue	5663	PSEN1	ORPHA:154
HP:0003549	Abnormality of connective tissue	7112	TMPO	ORPHA:154
HP:0003549	Abnormality of connective tissue	9464	HAND2	ORPHA:154
HP:0003549	Abnormality of connective tissue	88	ACTN2	ORPHA:154
HP:0003549	Abnormality of connective tissue	10486	CAP2	ORPHA:154
HP:0003549	Abnormality of connective tissue	10060	ABCC9	ORPHA:154
HP:0003549	Abnormality of connective tissue	7168	TPM1	ORPHA:154
HP:0003549	Abnormality of connective tissue	7414	VCL	ORPHA:154
HP:0003549	Abnormality of connective tissue	70	ACTC1	ORPHA:154
HP:0003549	Abnormality of connective tissue	27063	ANKRD1	ORPHA:154
HP:0003549	Abnormality of connective tissue	8048	CSRP3	ORPHA:154
HP:0003549	Abnormality of connective tissue	1410	CRYAB	ORPHA:154
HP:0003549	Abnormality of connective tissue	7139	TNNT2	ORPHA:154
HP:0003549	Abnormality of connective tissue	1829	DSG2	ORPHA:154
HP:0003549	Abnormality of connective tissue	3910	LAMA4	ORPHA:154
HP:0003549	Abnormality of connective tissue	10587	TXNRD2	ORPHA:154
HP:0003549	Abnormality of connective tissue	9531	BAG3	ORPHA:154
HP:0003549	Abnormality of connective tissue	5350	PLN	ORPHA:154
HP:0003549	Abnormality of connective tissue	91624	NEXN	ORPHA:154
HP:0003549	Abnormality of connective tissue	79717	PPCS	ORPHA:154
HP:0003549	Abnormality of connective tissue	5664	PSEN2	ORPHA:154
HP:0003549	Abnormality of connective tissue	4624	MYH6	ORPHA:154
HP:0003549	Abnormality of connective tissue	9529	BAG5	ORPHA:154
HP:0003549	Abnormality of connective tissue	4607	MYBPC3	ORPHA:154
HP:0003549	Abnormality of connective tissue	282996	RBM20	ORPHA:154
HP:0003549	Abnormality of connective tissue	7137	TNNI3	ORPHA:154
HP:0003549	Abnormality of connective tissue	11155	LDB3	ORPHA:154
HP:0003549	Abnormality of connective tissue	2274	FHL2	ORPHA:154
HP:0003549	Abnormality of connective tissue	6901	TAFAZZIN	ORPHA:154
HP:0003549	Abnormality of connective tissue	22845	DOLK	ORPHA:154
HP:0003549	Abnormality of connective tissue	5894	RAF1	ORPHA:154
HP:0003549	Abnormality of connective tissue	57798	GATAD1	ORPHA:154
HP:0003549	Abnormality of connective tissue	7134	TNNC1	ORPHA:154
HP:0003549	Abnormality of connective tissue	1674	DES	ORPHA:154
HP:0003549	Abnormality of connective tissue	6444	SGCD	ORPHA:154
HP:0003549	Abnormality of connective tissue	8557	TCAP	ORPHA:154
HP:0003549	Abnormality of connective tissue	60	ACTB	ORPHA:64755
HP:0003549	Abnormality of connective tissue	5346	PLIN1	OMIM:613877
HP:0003549	Abnormality of connective tissue	5346	PLIN1	ORPHA:280356
HP:0003549	Abnormality of connective tissue	84823	LMNB2	ORPHA:79087
HP:0003549	Abnormality of connective tissue	7486	WRN	ORPHA:902
HP:0003549	Abnormality of connective tissue	79827	CLMP	ORPHA:2301
HP:0003549	Abnormality of connective tissue	29957	SLC25A24	ORPHA:2963
HP:0003549	Abnormality of connective tissue	9780	PIEZO1	OMIM:616843
HP:0003549	Abnormality of connective tissue	4688	NCF2	OMIM:233710
HP:0003549	Abnormality of connective tissue	5880	RAC2	OMIM:618986
HP:0003549	Abnormality of connective tissue	5293	PIK3CD	OMIM:615513
HP:0003549	Abnormality of connective tissue	3570	IL6R	OMIM:618944
HP:0003549	Abnormality of connective tissue	85358	SHANK3	OMIM:606232
HP:0003549	Abnormality of connective tissue	10559	SLC35A1	ORPHA:238459
HP:0003549	Abnormality of connective tissue	2324	FLT4	OMIM:153100
HP:0003549	Abnormality of connective tissue	2324	FLT4	ORPHA:79452
HP:0003549	Abnormality of connective tissue	2624	GATA2	OMIM:614038
HP:0003549	Abnormality of connective tissue	5336	PLCG2	OMIM:614878
HP:0003549	Abnormality of connective tissue	57165	GJC2	ORPHA:79452
HP:0003549	Abnormality of connective tissue	57165	GJC2	OMIM:613480
HP:0003549	Abnormality of connective tissue	1991	ELANE	ORPHA:2686
HP:0003549	Abnormality of connective tissue	1991	ELANE	ORPHA:486
HP:0003549	Abnormality of connective tissue	695	BTK	ORPHA:47
HP:0003549	Abnormality of connective tissue	55109	AGGF1	ORPHA:90308
HP:0003549	Abnormality of connective tissue	1535	CYBA	OMIM:233690
HP:0003549	Abnormality of connective tissue	10095	ARPC1B	OMIM:617718
HP:0003549	Abnormality of connective tissue	10312	TCIRG1	ORPHA:486
HP:0003549	Abnormality of connective tissue	2672	GFI1	ORPHA:486
HP:0003549	Abnormality of connective tissue	6729	SRP54	ORPHA:486
HP:0003549	Abnormality of connective tissue	1536	CYBB	OMIM:306400
HP:0003549	Abnormality of connective tissue	219972	MPEG1	OMIM:619223
HP:0003549	Abnormality of connective tissue	7852	CXCR4	ORPHA:51636
HP:0003549	Abnormality of connective tissue	2303	FOXC2	OMIM:153400
HP:0003549	Abnormality of connective tissue	6929	TCF3	ORPHA:33110
HP:0003549	Abnormality of connective tissue	973	CD79A	ORPHA:33110
HP:0003549	Abnormality of connective tissue	974	CD79B	ORPHA:33110
HP:0003549	Abnormality of connective tissue	3543	IGLL1	ORPHA:33110
HP:0003549	Abnormality of connective tissue	3507	IGHM	ORPHA:33110
HP:0003549	Abnormality of connective tissue	29760	BLNK	ORPHA:33110
HP:0003549	Abnormality of connective tissue	56262	LRRC8A	ORPHA:33110
HP:0003549	Abnormality of connective tissue	7424	VEGFC	OMIM:615907
HP:0003549	Abnormality of connective tissue	3106	HLA-B	ORPHA:29207
HP:0003549	Abnormality of connective tissue	3106	HLA-B	OMIM:106300
HP:0003549	Abnormality of connective tissue	1758	DMP1	ORPHA:289176
HP:0003549	Abnormality of connective tissue	1893	ECM1	ORPHA:530
HP:0003549	Abnormality of connective tissue	1893	ECM1	OMIM:247100
HP:0003549	Abnormality of connective tissue	5317	PKP1	ORPHA:158668
HP:0003549	Abnormality of connective tissue	340665	CYP26C1	ORPHA:398189
HP:0003549	Abnormality of connective tissue	30008	EFEMP2	OMIM:614437
HP:0003549	Abnormality of connective tissue	5498	PPOX	ORPHA:79473
HP:0003549	Abnormality of connective tissue	56244	BTNL2	ORPHA:797
HP:0003549	Abnormality of connective tissue	1278	COL1A2	ORPHA:1899
HP:0003549	Abnormality of connective tissue	55343	SLC35C1	ORPHA:99843
HP:0003549	Abnormality of connective tissue	375	ARF1	ORPHA:98892
HP:0003549	Abnormality of connective tissue	4131	MAP1B	ORPHA:98892
HP:0003549	Abnormality of connective tissue	160418	TMTC3	ORPHA:98892
HP:0003549	Abnormality of connective tissue	10564	ARFGEF2	ORPHA:98892
HP:0003549	Abnormality of connective tissue	55780	ERMARD	ORPHA:98892
HP:0003549	Abnormality of connective tissue	6597	SMARCA4	ORPHA:1465
HP:0003549	Abnormality of connective tissue	6659	SOX4	ORPHA:1465
HP:0003549	Abnormality of connective tissue	5977	DPF2	ORPHA:1465
HP:0003549	Abnormality of connective tissue	6602	SMARCD1	ORPHA:1465
HP:0003549	Abnormality of connective tissue	196528	ARID2	ORPHA:1465
HP:0003549	Abnormality of connective tissue	6605	SMARCE1	ORPHA:1465
HP:0003549	Abnormality of connective tissue	6664	SOX11	ORPHA:1465
HP:0003549	Abnormality of connective tissue	10815	CPLX1	ORPHA:280
HP:0003549	Abnormality of connective tissue	54872	PIGG	ORPHA:280
HP:0003549	Abnormality of connective tissue	7469	NELFA	ORPHA:280
HP:0003549	Abnormality of connective tissue	3954	LETM1	ORPHA:280
HP:0003549	Abnormality of connective tissue	7468	NSD2	ORPHA:280
HP:0003549	Abnormality of connective tissue	10082	GPC6	ORPHA:93329
HP:0003549	Abnormality of connective tissue	22861	NLRP1	OMIM:618803
HP:0003549	Abnormality of connective tissue	3105	HLA-A	ORPHA:179
HP:0003549	Abnormality of connective tissue	3426	CFI	OMIM:615439
HP:0003549	Abnormality of connective tissue	6452	SH3BP2	OMIM:118400
HP:0003549	Abnormality of connective tissue	64802	NMNAT1	OMIM:608553
HP:0003550	Predominantly lower limb lymphedema	54345	SOX18	OMIM:607823
HP:0003550	Predominantly lower limb lymphedema	54345	SOX18	ORPHA:69735
HP:0003550	Predominantly lower limb lymphedema	2324	FLT4	OMIM:153100
HP:0003550	Predominantly lower limb lymphedema	2324	FLT4	ORPHA:79452
HP:0003550	Predominantly lower limb lymphedema	2303	FOXC2	OMIM:153400
HP:0003550	Predominantly lower limb lymphedema	2303	FOXC2	ORPHA:33001
HP:0003550	Predominantly lower limb lymphedema	9620	CELSR1	OMIM:619319
HP:0003550	Predominantly lower limb lymphedema	1786	DNMT1	ORPHA:314404
HP:0003550	Predominantly lower limb lymphedema	1786	DNMT1	OMIM:604121
HP:0003550	Predominantly lower limb lymphedema	57165	GJC2	ORPHA:79452
HP:0003550	Predominantly lower limb lymphedema	2050	EPHB4	ORPHA:90186
HP:0003551	Difficulty climbing stairs	58	ACTA1	ORPHA:97240
HP:0003551	Difficulty climbing stairs	6445	SGCG	ORPHA:353
HP:0003551	Difficulty climbing stairs	274	BIN1	ORPHA:169186
HP:0003551	Difficulty climbing stairs	10290	SPEG	ORPHA:169186
HP:0003551	Difficulty climbing stairs	6261	RYR1	ORPHA:169186
HP:0003551	Difficulty climbing stairs	7273	TTN	ORPHA:169186
HP:0003551	Difficulty climbing stairs	7273	TTN	OMIM:608807
HP:0003551	Difficulty climbing stairs	7273	TTN	OMIM:611705
HP:0003551	Difficulty climbing stairs	291	SLC25A4	ORPHA:254892
HP:0003551	Difficulty climbing stairs	5428	POLG	ORPHA:254892
HP:0003551	Difficulty climbing stairs	5428	POLG	OMIM:258450
HP:0003551	Difficulty climbing stairs	5428	POLG	OMIM:607459
HP:0003551	Difficulty climbing stairs	56652	TWNK	ORPHA:254892
HP:0003551	Difficulty climbing stairs	56652	TWNK	OMIM:607459
HP:0003551	Difficulty climbing stairs	11232	POLG2	ORPHA:254892
HP:0003551	Difficulty climbing stairs	50484	RRM2B	ORPHA:254892
HP:0003551	Difficulty climbing stairs	50484	RRM2B	ORPHA:329336
HP:0003551	Difficulty climbing stairs	10585	POMT1	OMIM:609308
HP:0003551	Difficulty climbing stairs	10585	POMT1	ORPHA:86812
HP:0003551	Difficulty climbing stairs	29925	GMPPB	OMIM:615350
HP:0003551	Difficulty climbing stairs	29925	GMPPB	ORPHA:353327
HP:0003551	Difficulty climbing stairs	29925	GMPPB	ORPHA:363623
HP:0003551	Difficulty climbing stairs	55791	LRIF1	OMIM:619477
HP:0003551	Difficulty climbing stairs	1763	DNA2	OMIM:615156
HP:0003551	Difficulty climbing stairs	7415	VCP	ORPHA:435387
HP:0003551	Difficulty climbing stairs	7415	VCP	OMIM:167320
HP:0003551	Difficulty climbing stairs	246243	RNASEH1	ORPHA:329336
HP:0003551	Difficulty climbing stairs	2548	GAA	OMIM:232300
HP:0003551	Difficulty climbing stairs	8291	DYSF	OMIM:254130
HP:0003551	Difficulty climbing stairs	8291	DYSF	OMIM:253601
HP:0003551	Difficulty climbing stairs	8291	DYSF	ORPHA:268
HP:0003551	Difficulty climbing stairs	8291	DYSF	ORPHA:45448
HP:0003551	Difficulty climbing stairs	79912	PYROXD1	OMIM:617258
HP:0003551	Difficulty climbing stairs	1756	DMD	OMIM:310200
HP:0003551	Difficulty climbing stairs	1756	DMD	ORPHA:98895
HP:0003551	Difficulty climbing stairs	203547	VMA21	OMIM:310440
HP:0003551	Difficulty climbing stairs	3032	HADHB	ORPHA:746
HP:0003551	Difficulty climbing stairs	3030	HADHA	ORPHA:746
HP:0003551	Difficulty climbing stairs	6442	SGCA	ORPHA:62
HP:0003551	Difficulty climbing stairs	1605	DAG1	OMIM:613818
HP:0003551	Difficulty climbing stairs	1605	DAG1	ORPHA:280333
HP:0003551	Difficulty climbing stairs	10049	DNAJB6	OMIM:603511
HP:0003551	Difficulty climbing stairs	10049	DNAJB6	ORPHA:34516
HP:0003551	Difficulty climbing stairs	9499	MYOT	ORPHA:266
HP:0003551	Difficulty climbing stairs	5339	PLEC	ORPHA:254361
HP:0003551	Difficulty climbing stairs	5339	PLEC	OMIM:613723
HP:0003551	Difficulty climbing stairs	825	CAPN3	ORPHA:267
HP:0003551	Difficulty climbing stairs	84197	POMK	OMIM:616094
HP:0003551	Difficulty climbing stairs	79147	FKRP	OMIM:607155
HP:0003551	Difficulty climbing stairs	79147	FKRP	OMIM:606612
HP:0003551	Difficulty climbing stairs	79147	FKRP	ORPHA:34515
HP:0003551	Difficulty climbing stairs	2673	GFPT1	ORPHA:353327
HP:0003551	Difficulty climbing stairs	1798	DPAGT1	ORPHA:353327
HP:0003551	Difficulty climbing stairs	85365	ALG2	ORPHA:353327
HP:0003551	Difficulty climbing stairs	199857	ALG14	ORPHA:353327
HP:0003551	Difficulty climbing stairs	284403	WDR62	OMIM:604317
HP:0003551	Difficulty climbing stairs	6444	SGCD	OMIM:601287
HP:0003551	Difficulty climbing stairs	26092	TOR1AIP1	OMIM:617072
HP:0003551	Difficulty climbing stairs	10342	TFG	ORPHA:431329
HP:0003551	Difficulty climbing stairs	84665	MYPN	ORPHA:171881
HP:0003551	Difficulty climbing stairs	7169	TPM2	ORPHA:171881
HP:0003551	Difficulty climbing stairs	7170	TPM3	ORPHA:171881
HP:0003551	Difficulty climbing stairs	55624	POMGNT1	OMIM:613157
HP:0003551	Difficulty climbing stairs	122622	ADSS1	ORPHA:482601
HP:0003551	Difficulty climbing stairs	4625	MYH7	OMIM:608358
HP:0003551	Difficulty climbing stairs	2318	FLNC	OMIM:609524
HP:0003551	Difficulty climbing stairs	203859	ANO5	OMIM:613319
HP:0003551	Difficulty climbing stairs	4556	MT-TE	ORPHA:2596
HP:0003551	Difficulty climbing stairs	29954	POMT2	ORPHA:206559
HP:0003551	Difficulty climbing stairs	8557	TCAP	OMIM:601954
HP:0003551	Difficulty climbing stairs	3991	LIPE	OMIM:615980
HP:0003551	Difficulty climbing stairs	125170	MIEF2	OMIM:619024
HP:0003551	Difficulty climbing stairs	390594	KBTBD13	OMIM:609273
HP:0003551	Difficulty climbing stairs	57449	PLEKHG5	OMIM:611067
HP:0003551	Difficulty climbing stairs	3908	LAMA2	OMIM:618138
HP:0003551	Difficulty climbing stairs	23534	TNPO3	OMIM:608423
HP:0003551	Difficulty climbing stairs	9927	MFN2	ORPHA:99947
HP:0003552	Muscle stiffness	6261	RYR1	ORPHA:597
HP:0003552	Muscle stiffness	6261	RYR1	ORPHA:423
HP:0003552	Muscle stiffness	37	ACADVL	OMIM:201475
HP:0003552	Muscle stiffness	3094	HINT1	ORPHA:324442
HP:0003552	Muscle stiffness	3094	HINT1	OMIM:137200
HP:0003552	Muscle stiffness	203859	ANO5	ORPHA:399096
HP:0003552	Muscle stiffness	3839	KPNA3	OMIM:620106
HP:0003552	Muscle stiffness	1180	CLCN1	OMIM:255700
HP:0003552	Muscle stiffness	1180	CLCN1	OMIM:160800
HP:0003552	Muscle stiffness	100134444	KCNJ18	ORPHA:79102
HP:0003552	Muscle stiffness	2556	GABRA3	ORPHA:79102
HP:0003552	Muscle stiffness	779	CACNA1S	ORPHA:79102
HP:0003552	Muscle stiffness	779	CACNA1S	ORPHA:423
HP:0003552	Muscle stiffness	6329	SCN4A	ORPHA:99734
HP:0003552	Muscle stiffness	6329	SCN4A	OMIM:168300
HP:0003552	Muscle stiffness	6329	SCN4A	OMIM:608390
HP:0003552	Muscle stiffness	6329	SCN4A	ORPHA:684
HP:0003552	Muscle stiffness	4644	MYO5A	ORPHA:33445
HP:0003552	Muscle stiffness	170302	ARX	ORPHA:3175
HP:0003552	Muscle stiffness	1718	DHCR24	ORPHA:35107
HP:0003552	Muscle stiffness	7084	TK2	ORPHA:254886
HP:0003552	Muscle stiffness	5428	POLG	ORPHA:254886
HP:0003552	Muscle stiffness	84909	AOPEP	OMIM:619565
HP:0003552	Muscle stiffness	5575	PRKAR1B	ORPHA:412066
HP:0003552	Muscle stiffness	3832	KIF11	ORPHA:2526
HP:0003552	Muscle stiffness	3939	LDHA	OMIM:612933
HP:0003552	Muscle stiffness	3736	KCNA1	ORPHA:37612
HP:0003552	Muscle stiffness	9499	MYOT	ORPHA:98911
HP:0003552	Muscle stiffness	9499	MYOT	OMIM:609200
HP:0003552	Muscle stiffness	100151683	RNU4ATAC	ORPHA:2636
HP:0003552	Muscle stiffness	7994	KAT6A	ORPHA:457193
HP:0003552	Muscle stiffness	84665	MYPN	ORPHA:171439
HP:0003552	Muscle stiffness	58	ACTA1	ORPHA:171439
HP:0003552	Muscle stiffness	7169	TPM2	ORPHA:171439
HP:0003552	Muscle stiffness	390594	KBTBD13	ORPHA:171439
HP:0003552	Muscle stiffness	390594	KBTBD13	OMIM:609273
HP:0003552	Muscle stiffness	4703	NEB	ORPHA:171439
HP:0003552	Muscle stiffness	10324	KLHL41	ORPHA:171439
HP:0003552	Muscle stiffness	7170	TPM3	ORPHA:171439
HP:0003552	Muscle stiffness	7132	TNFRSF1A	OMIM:142680
HP:0003552	Muscle stiffness	2260	FGFR1	ORPHA:2396
HP:0003552	Muscle stiffness	3845	KRAS	ORPHA:2396
HP:0003552	Muscle stiffness	2581	GALC	ORPHA:206436
HP:0003552	Muscle stiffness	5660	PSAP	ORPHA:206436
HP:0003552	Muscle stiffness	3339	HSPG2	OMIM:255800
HP:0003552	Muscle stiffness	6687	SPG7	OMIM:607259
HP:0003552	Muscle stiffness	2743	GLRB	ORPHA:3197
HP:0003552	Muscle stiffness	2743	GLRB	OMIM:614619
HP:0003552	Muscle stiffness	2741	GLRA1	ORPHA:3197
HP:0003552	Muscle stiffness	10243	GPHN	ORPHA:3197
HP:0003552	Muscle stiffness	84896	ATAD1	ORPHA:3197
HP:0003552	Muscle stiffness	9152	SLC6A5	ORPHA:3197
HP:0003552	Muscle stiffness	9152	SLC6A5	OMIM:614618
HP:0003552	Muscle stiffness	80025	PANK2	ORPHA:216866
HP:0003552	Muscle stiffness	1376	CPT2	OMIM:255110
HP:0003552	Muscle stiffness	51308	REEP2	OMIM:615625
HP:0003552	Muscle stiffness	284119	CAVIN1	OMIM:613327
HP:0003552	Muscle stiffness	8291	DYSF	ORPHA:45448
HP:0003552	Muscle stiffness	64374	SIL1	ORPHA:559
HP:0003552	Muscle stiffness	51763	INPP5K	ORPHA:559
HP:0003552	Muscle stiffness	10535	RNASEH2A	ORPHA:51
HP:0003552	Muscle stiffness	84153	RNASEH2C	ORPHA:51
HP:0003552	Muscle stiffness	25939	SAMHD1	ORPHA:51
HP:0003552	Muscle stiffness	79621	RNASEH2B	ORPHA:51
HP:0003552	Muscle stiffness	103	ADAR	ORPHA:51
HP:0003552	Muscle stiffness	11277	TREX1	ORPHA:51
HP:0003552	Muscle stiffness	100147744	RNU7-1	ORPHA:51
HP:0003552	Muscle stiffness	134353	LSM11	ORPHA:51
HP:0003552	Muscle stiffness	64135	IFIH1	ORPHA:51
HP:0003552	Muscle stiffness	6786	STIM1	OMIM:160565
HP:0003552	Muscle stiffness	6513	SLC2A1	ORPHA:71277
HP:0003552	Muscle stiffness	4137	MAPT	ORPHA:240085
HP:0003552	Muscle stiffness	4137	MAPT	ORPHA:240071
HP:0003552	Muscle stiffness	487	ATP2A1	OMIM:601003
HP:0003552	Muscle stiffness	859	CAV3	OMIM:606072
HP:0003552	Muscle stiffness	5213	PFKM	OMIM:232800
HP:0003552	Muscle stiffness	90523	MLIP	OMIM:620138
HP:0003552	Muscle stiffness	6566	SLC16A1	OMIM:245340
HP:0003552	Muscle stiffness	5837	PYGM	ORPHA:368
HP:0003552	Muscle stiffness	5255	PHKA1	OMIM:300559
HP:0003552	Muscle stiffness	9829	DNAJC6	ORPHA:391411
HP:0003552	Muscle stiffness	5420	PODXL	ORPHA:391411
HP:0003552	Muscle stiffness	8867	SYNJ1	ORPHA:391411
HP:0003552	Muscle stiffness	8867	SYNJ1	OMIM:615530
HP:0003552	Muscle stiffness	55129	ANO10	ORPHA:284289
HP:0003552	Muscle stiffness	547	KIF1A	ORPHA:101010
HP:0003552	Muscle stiffness	1410	CRYAB	OMIM:608810
HP:0003552	Muscle stiffness	3798	KIF5A	ORPHA:100991
HP:0003552	Muscle stiffness	5297	PI4KA	OMIM:619621
HP:0003552	Muscle stiffness	23503	ZFYVE26	ORPHA:100996
HP:0003552	Muscle stiffness	6683	SPAST	ORPHA:100985
HP:0003552	Muscle stiffness	23400	ATP13A2	ORPHA:306674
HP:0003552	Muscle stiffness	23400	ATP13A2	OMIM:606693
HP:0003552	Muscle stiffness	215	ABCD1	ORPHA:139399
HP:0003552	Muscle stiffness	55157	DARS2	ORPHA:137898
HP:0003552	Muscle stiffness	4508	MT-ATP6	ORPHA:320360
HP:0003552	Muscle stiffness	6843	VAMP1	OMIM:108600
HP:0003552	Muscle stiffness	6843	VAMP1	ORPHA:251282
HP:0003552	Muscle stiffness	11155	LDB3	ORPHA:98912
HP:0100658	Cellulitis	9051	PSTPIP1	OMIM:604416
HP:0100658	Cellulitis	5251	PHEX	ORPHA:89936
HP:0100658	Cellulitis	9780	PIEZO1	OMIM:616843
HP:0100658	Cellulitis	4688	NCF2	OMIM:233710
HP:0100658	Cellulitis	5880	RAC2	OMIM:618986
HP:0100658	Cellulitis	5293	PIK3CD	OMIM:615513
HP:0100658	Cellulitis	3570	IL6R	OMIM:618944
HP:0100658	Cellulitis	85358	SHANK3	OMIM:606232
HP:0100658	Cellulitis	55343	SLC35C1	OMIM:266265
HP:0100658	Cellulitis	10559	SLC35A1	ORPHA:238459
HP:0100658	Cellulitis	2324	FLT4	OMIM:153100
HP:0100658	Cellulitis	2324	FLT4	ORPHA:79452
HP:0100658	Cellulitis	2624	GATA2	OMIM:614038
HP:0100658	Cellulitis	3832	KIF11	ORPHA:2526
HP:0100658	Cellulitis	1277	COL1A1	ORPHA:1310
HP:0100658	Cellulitis	5336	PLCG2	OMIM:614878
HP:0100658	Cellulitis	57165	GJC2	ORPHA:79452
HP:0100658	Cellulitis	57165	GJC2	OMIM:613480
HP:0100658	Cellulitis	7132	TNFRSF1A	ORPHA:32960
HP:0100658	Cellulitis	1991	ELANE	ORPHA:2686
HP:0100658	Cellulitis	1991	ELANE	ORPHA:486
HP:0100658	Cellulitis	695	BTK	ORPHA:47
HP:0100658	Cellulitis	165	AEBP1	OMIM:618000
HP:0100658	Cellulitis	165	AEBP1	ORPHA:536532
HP:0100658	Cellulitis	6774	STAT3	ORPHA:2314
HP:0100658	Cellulitis	55109	AGGF1	ORPHA:90308
HP:0100658	Cellulitis	1535	CYBA	OMIM:233690
HP:0100658	Cellulitis	10095	ARPC1B	OMIM:617718
HP:0100658	Cellulitis	2050	EPHB4	ORPHA:90186
HP:0100658	Cellulitis	10312	TCIRG1	ORPHA:486
HP:0100658	Cellulitis	2672	GFI1	ORPHA:486
HP:0100658	Cellulitis	6729	SRP54	ORPHA:486
HP:0100658	Cellulitis	81570	CLPB	ORPHA:486
HP:0100658	Cellulitis	1536	CYBB	OMIM:306400
HP:0100658	Cellulitis	219972	MPEG1	OMIM:619223
HP:0100658	Cellulitis	7852	CXCR4	ORPHA:51636
HP:0100658	Cellulitis	2303	FOXC2	OMIM:153400
HP:0100658	Cellulitis	653361	NCF1	OMIM:233700
HP:0100658	Cellulitis	3559	IL2RA	OMIM:606367
HP:0100658	Cellulitis	6929	TCF3	ORPHA:33110
HP:0100658	Cellulitis	973	CD79A	ORPHA:33110
HP:0100658	Cellulitis	974	CD79B	ORPHA:33110
HP:0100658	Cellulitis	3543	IGLL1	ORPHA:33110
HP:0100658	Cellulitis	3507	IGHM	ORPHA:33110
HP:0100658	Cellulitis	29760	BLNK	ORPHA:33110
HP:0100658	Cellulitis	5295	PIK3R1	ORPHA:33110
HP:0100658	Cellulitis	56262	LRRC8A	ORPHA:33110
HP:0100658	Cellulitis	7424	VEGFC	OMIM:615907
HP:0100658	Cellulitis	4000	LMNA	ORPHA:2348
HP:0003554	Type 2 muscle fiber atrophy	87178	PNPT1	ORPHA:319514
HP:0003554	Type 2 muscle fiber atrophy	1134	CHRNA1	OMIM:601462
HP:0003554	Type 2 muscle fiber atrophy	1134	CHRNA1	OMIM:608930
HP:0003554	Type 2 muscle fiber atrophy	7555	CNBP	OMIM:602668
HP:0003554	Type 2 muscle fiber atrophy	2673	GFPT1	OMIM:608931
HP:0003554	Type 2 muscle fiber atrophy	1145	CHRNE	OMIM:608931
HP:0003554	Type 2 muscle fiber atrophy	1145	CHRNE	OMIM:605809
HP:0003554	Type 2 muscle fiber atrophy	199857	ALG14	OMIM:619036
HP:0003554	Type 2 muscle fiber atrophy	1103	CHAT	OMIM:254210
HP:0003554	Type 2 muscle fiber atrophy	8292	COLQ	ORPHA:98915
HP:0003554	Type 2 muscle fiber atrophy	8292	COLQ	OMIM:603034
HP:0003554	Type 2 muscle fiber atrophy	3913	LAMB2	ORPHA:98915
HP:0003554	Type 2 muscle fiber atrophy	844	CASQ1	ORPHA:2593
HP:0003554	Type 2 muscle fiber atrophy	84876	ORAI1	ORPHA:2593
HP:0003554	Type 2 muscle fiber atrophy	6786	STIM1	ORPHA:2593
HP:0003554	Type 2 muscle fiber atrophy	6786	STIM1	OMIM:160565
HP:0003554	Type 2 muscle fiber atrophy	23175	LPIN1	ORPHA:99845
HP:0003554	Type 2 muscle fiber atrophy	4512	MT-CO1	ORPHA:99845
HP:0003554	Type 2 muscle fiber atrophy	4514	MT-CO3	ORPHA:99845
HP:0003554	Type 2 muscle fiber atrophy	54938	SARS2	OMIM:613845
HP:0003554	Type 2 muscle fiber atrophy	57731	SPTBN4	OMIM:617519
HP:0003555	Muscle fiber splitting	10049	DNAJB6	OMIM:603511
HP:0003555	Muscle fiber splitting	58	ACTA1	ORPHA:97240
HP:0003555	Muscle fiber splitting	7148	TNXB	OMIM:606408
HP:0003555	Muscle fiber splitting	7273	TTN	OMIM:603689
HP:0003555	Muscle fiber splitting	7273	TTN	ORPHA:178464
HP:0003555	Muscle fiber splitting	1410	CRYAB	OMIM:608810
HP:0003555	Muscle fiber splitting	122622	ADSS1	OMIM:617030
HP:0003555	Muscle fiber splitting	4625	MYH7	ORPHA:437572
HP:0003555	Muscle fiber splitting	5339	PLEC	OMIM:226670
HP:0003555	Muscle fiber splitting	51776	MAP3K20	OMIM:617760
HP:0003555	Muscle fiber splitting	1140	CHRNB1	OMIM:616313
HP:0003555	Muscle fiber splitting	226	ALDOA	OMIM:611881
HP:0003555	Muscle fiber splitting	4744	NEFH	OMIM:616924
HP:0003555	Muscle fiber splitting	825	CAPN3	OMIM:618129
HP:0003555	Muscle fiber splitting	8291	DYSF	OMIM:253601
HP:0003555	Muscle fiber splitting	6445	SGCG	OMIM:253700
HP:0003555	Muscle fiber splitting	2318	FLNC	OMIM:609524
HP:0003555	Muscle fiber splitting	4703	NEB	OMIM:256030
HP:0003555	Muscle fiber splitting	59341	TRPV4	OMIM:181405
HP:0003555	Muscle fiber splitting	203859	ANO5	ORPHA:206549
HP:0003555	Muscle fiber splitting	11155	LDB3	OMIM:609452
HP:0003557	Increased variability in muscle fiber diameter	9131	AIFM1	ORPHA:238329
HP:0003557	Increased variability in muscle fiber diameter	353116	RILPL1	OMIM:619790
HP:0003557	Increased variability in muscle fiber diameter	1291	COL6A1	OMIM:254090
HP:0003557	Increased variability in muscle fiber diameter	1291	COL6A1	ORPHA:75840
HP:0003557	Increased variability in muscle fiber diameter	1292	COL6A2	OMIM:254090
HP:0003557	Increased variability in muscle fiber diameter	1292	COL6A2	ORPHA:75840
HP:0003557	Increased variability in muscle fiber diameter	1293	COL6A3	OMIM:254090
HP:0003557	Increased variability in muscle fiber diameter	1293	COL6A3	ORPHA:75840
HP:0003557	Increased variability in muscle fiber diameter	57128	LYRM4	OMIM:615595
HP:0003557	Increased variability in muscle fiber diameter	79188	TMEM43	OMIM:614302
HP:0003557	Increased variability in muscle fiber diameter	9782	MATR3	OMIM:606070
HP:0003557	Increased variability in muscle fiber diameter	1305	COL13A1	OMIM:616720
HP:0003557	Increased variability in muscle fiber diameter	1410	CRYAB	ORPHA:399058
HP:0003557	Increased variability in muscle fiber diameter	6606	SMN1	OMIM:271150
HP:0003557	Increased variability in muscle fiber diameter	8291	DYSF	OMIM:253601
HP:0003557	Increased variability in muscle fiber diameter	5428	POLG	OMIM:258450
HP:0003557	Increased variability in muscle fiber diameter	5428	POLG	OMIM:157640
HP:0003557	Increased variability in muscle fiber diameter	5428	POLG	ORPHA:70595
HP:0003557	Increased variability in muscle fiber diameter	5428	POLG	OMIM:607459
HP:0003557	Increased variability in muscle fiber diameter	4703	NEB	OMIM:256030
HP:0003557	Increased variability in muscle fiber diameter	4703	NEB	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	4703	NEB	OMIM:619334
HP:0003557	Increased variability in muscle fiber diameter	4703	NEB	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	6442	SGCA	OMIM:608099
HP:0003557	Increased variability in muscle fiber diameter	1303	COL12A1	ORPHA:75840
HP:0003557	Increased variability in muscle fiber diameter	1303	COL12A1	OMIM:616471
HP:0003557	Increased variability in muscle fiber diameter	1303	COL12A1	OMIM:616470
HP:0003557	Increased variability in muscle fiber diameter	1303	COL12A1	ORPHA:536516
HP:0003557	Increased variability in muscle fiber diameter	9499	MYOT	ORPHA:266
HP:0003557	Increased variability in muscle fiber diameter	2617	GARS1	OMIM:619042
HP:0003557	Increased variability in muscle fiber diameter	54344	DPM3	OMIM:618992
HP:0003557	Increased variability in muscle fiber diameter	54344	DPM3	OMIM:612937
HP:0003557	Increased variability in muscle fiber diameter	58	ACTA1	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	58	ACTA1	OMIM:616852
HP:0003557	Increased variability in muscle fiber diameter	58	ACTA1	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	7169	TPM2	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	7169	TPM2	ORPHA:171881
HP:0003557	Increased variability in muscle fiber diameter	7169	TPM2	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	10324	KLHL41	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	10324	KLHL41	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	56203	LMOD3	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	1073	CFL2	ORPHA:171436
HP:0003557	Increased variability in muscle fiber diameter	91754	NEK9	OMIM:617022
HP:0003557	Increased variability in muscle fiber diameter	7273	TTN	ORPHA:178464
HP:0003557	Increased variability in muscle fiber diameter	7273	TTN	OMIM:608807
HP:0003557	Increased variability in muscle fiber diameter	7273	TTN	ORPHA:609
HP:0003557	Increased variability in muscle fiber diameter	7273	TTN	OMIM:603689
HP:0003557	Increased variability in muscle fiber diameter	7273	TTN	OMIM:611705
HP:0003557	Increased variability in muscle fiber diameter	3714	JAG2	OMIM:619566
HP:0003557	Increased variability in muscle fiber diameter	84466	MEGF10	OMIM:614399
HP:0003557	Increased variability in muscle fiber diameter	10730	YME1L1	OMIM:617302
HP:0003557	Increased variability in muscle fiber diameter	4976	OPA1	OMIM:125250
HP:0003557	Increased variability in muscle fiber diameter	22954	TRIM32	ORPHA:1878
HP:0003557	Increased variability in muscle fiber diameter	22954	TRIM32	OMIM:254110
HP:0003557	Increased variability in muscle fiber diameter	7125	TNNC2	OMIM:620161
HP:0003557	Increased variability in muscle fiber diameter	1185	CLCN6	OMIM:619173
HP:0003557	Increased variability in muscle fiber diameter	57190	SELENON	OMIM:602771
HP:0003557	Increased variability in muscle fiber diameter	2273	FHL1	OMIM:300696
HP:0003557	Increased variability in muscle fiber diameter	2273	FHL1	OMIM:300718
HP:0003557	Increased variability in muscle fiber diameter	2273	FHL1	OMIM:300717
HP:0003557	Increased variability in muscle fiber diameter	55154	MSTO1	OMIM:617675
HP:0003557	Increased variability in muscle fiber diameter	55154	MSTO1	ORPHA:502423
HP:0003557	Increased variability in muscle fiber diameter	8878	SQSTM1	OMIM:617158
HP:0003557	Increased variability in muscle fiber diameter	84665	MYPN	ORPHA:171881
HP:0003557	Increased variability in muscle fiber diameter	84665	MYPN	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	7170	TPM3	ORPHA:171881
HP:0003557	Increased variability in muscle fiber diameter	7170	TPM3	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	23345	SYNE1	OMIM:618484
HP:0003557	Increased variability in muscle fiber diameter	146862	UNC45B	OMIM:619178
HP:0003557	Increased variability in muscle fiber diameter	6261	RYR1	OMIM:255320
HP:0003557	Increased variability in muscle fiber diameter	6261	RYR1	OMIM:117000
HP:0003557	Increased variability in muscle fiber diameter	6261	RYR1	ORPHA:98905
HP:0003557	Increased variability in muscle fiber diameter	859	CAV3	OMIM:614321
HP:0003557	Increased variability in muscle fiber diameter	859	CAV3	ORPHA:488650
HP:0003557	Increased variability in muscle fiber diameter	191	AHCY	OMIM:613752
HP:0003557	Increased variability in muscle fiber diameter	311	ANXA11	OMIM:619733
HP:0003557	Increased variability in muscle fiber diameter	51008	ASCC1	OMIM:616867
HP:0003557	Increased variability in muscle fiber diameter	825	CAPN3	OMIM:618129
HP:0003557	Increased variability in muscle fiber diameter	57211	ADGRG6	OMIM:616503
HP:0003557	Increased variability in muscle fiber diameter	85365	ALG2	OMIM:616228
HP:0003557	Increased variability in muscle fiber diameter	9325	TRIP4	OMIM:616866
HP:0003557	Increased variability in muscle fiber diameter	9325	TRIP4	OMIM:617066
HP:0003557	Increased variability in muscle fiber diameter	9325	TRIP4	ORPHA:486815
HP:0003557	Increased variability in muscle fiber diameter	6445	SGCG	OMIM:253700
HP:0003557	Increased variability in muscle fiber diameter	6445	SGCG	ORPHA:353
HP:0003557	Increased variability in muscle fiber diameter	2218	FKTN	OMIM:611615
HP:0003557	Increased variability in muscle fiber diameter	29967	LRP12	OMIM:164310
HP:0003557	Increased variability in muscle fiber diameter	10020	GNE	ORPHA:602
HP:0003557	Increased variability in muscle fiber diameter	8604	SLC25A12	OMIM:612949
HP:0003557	Increased variability in muscle fiber diameter	10049	DNAJB6	ORPHA:34516
HP:0003557	Increased variability in muscle fiber diameter	4620	MYH2	OMIM:605637
HP:0003557	Increased variability in muscle fiber diameter	10367	MICU1	ORPHA:401768
HP:0003557	Increased variability in muscle fiber diameter	8557	TCAP	OMIM:601954
HP:0003557	Increased variability in muscle fiber diameter	88	ACTN2	OMIM:618654
HP:0003557	Increased variability in muscle fiber diameter	88	ACTN2	OMIM:618655
HP:0003557	Increased variability in muscle fiber diameter	4697	NDUFA4	OMIM:619065
HP:0003557	Increased variability in muscle fiber diameter	127833	SYT2	OMIM:619461
HP:0003557	Increased variability in muscle fiber diameter	8802	SUCLG1	ORPHA:17
HP:0003557	Increased variability in muscle fiber diameter	3178	HNRNPA1	OMIM:615424
HP:0003557	Increased variability in muscle fiber diameter	3178	HNRNPA1	ORPHA:52430
HP:0003557	Increased variability in muscle fiber diameter	3908	LAMA2	OMIM:618138
HP:0003557	Increased variability in muscle fiber diameter	4632	MYL1	OMIM:618414
HP:0003557	Increased variability in muscle fiber diameter	9997	SCO2	OMIM:604377
HP:0003557	Increased variability in muscle fiber diameter	79784	MYH14	ORPHA:397744
HP:0003557	Increased variability in muscle fiber diameter	10755	GIPC1	OMIM:618940
HP:0003557	Increased variability in muscle fiber diameter	4625	MYH7	ORPHA:437572
HP:0003557	Increased variability in muscle fiber diameter	100996717	NOTCH2NLC	OMIM:619473
HP:0003557	Increased variability in muscle fiber diameter	4744	NEFH	OMIM:616924
HP:0003557	Increased variability in muscle fiber diameter	56652	TWNK	ORPHA:70595
HP:0003557	Increased variability in muscle fiber diameter	56652	TWNK	OMIM:607459
HP:0003557	Increased variability in muscle fiber diameter	10585	POMT1	ORPHA:86812
HP:0003557	Increased variability in muscle fiber diameter	4285	MIPEP	OMIM:617228
HP:0003557	Increased variability in muscle fiber diameter	226	ALDOA	OMIM:611881
HP:0003557	Increased variability in muscle fiber diameter	1605	DAG1	OMIM:616538
HP:0003557	Increased variability in muscle fiber diameter	11149	BVES	OMIM:616812
HP:0003557	Increased variability in muscle fiber diameter	51244	CCDC174	OMIM:616816
HP:0003557	Increased variability in muscle fiber diameter	7415	VCP	ORPHA:52430
HP:0003557	Increased variability in muscle fiber diameter	7415	VCP	OMIM:613954
HP:0003557	Increased variability in muscle fiber diameter	3181	HNRNPA2B1	ORPHA:52430
HP:0003557	Increased variability in muscle fiber diameter	26092	TOR1AIP1	OMIM:617072
HP:0003557	Increased variability in muscle fiber diameter	29954	POMT2	OMIM:613150
HP:0003557	Increased variability in muscle fiber diameter	3798	KIF5A	OMIM:617235
HP:0003557	Increased variability in muscle fiber diameter	339855	KY	OMIM:617114
HP:0003557	Increased variability in muscle fiber diameter	5339	PLEC	OMIM:226670
HP:0003557	Increased variability in muscle fiber diameter	64208	POPDC3	OMIM:618848
HP:0003557	Increased variability in muscle fiber diameter	55624	POMGNT1	OMIM:613157
HP:0003557	Increased variability in muscle fiber diameter	5213	PFKM	OMIM:232800
HP:0003557	Increased variability in muscle fiber diameter	390594	KBTBD13	ORPHA:171439
HP:0003557	Increased variability in muscle fiber diameter	844	CASQ1	ORPHA:2593
HP:0003557	Increased variability in muscle fiber diameter	84876	ORAI1	ORPHA:2593
HP:0003557	Increased variability in muscle fiber diameter	6786	STIM1	ORPHA:2593
HP:0003557	Increased variability in muscle fiber diameter	6786	STIM1	OMIM:160565
HP:0003557	Increased variability in muscle fiber diameter	779	CACNA1S	OMIM:620246
HP:0003557	Increased variability in muscle fiber diameter	1487	CTBP1	OMIM:617915
HP:0003557	Increased variability in muscle fiber diameter	23479	ISCU	OMIM:255125
HP:0003557	Increased variability in muscle fiber diameter	23676	SMPX	OMIM:301075
HP:0003557	Increased variability in muscle fiber diameter	1756	DMD	OMIM:302045
HP:0003557	Increased variability in muscle fiber diameter	57505	AARS2	OMIM:614096
HP:0003557	Increased variability in muscle fiber diameter	84842	HPDL	OMIM:619026
HP:0003557	Increased variability in muscle fiber diameter	51776	MAP3K20	OMIM:617760
HP:0003557	Increased variability in muscle fiber diameter	1140	CHRNB1	OMIM:616313
HP:0003557	Increased variability in muscle fiber diameter	3679	ITGA7	OMIM:613204
HP:0003557	Increased variability in muscle fiber diameter	284119	CAVIN1	OMIM:613327
HP:0003557	Increased variability in muscle fiber diameter	90523	MLIP	OMIM:620138
HP:0003557	Increased variability in muscle fiber diameter	23224	SYNE2	OMIM:612999
HP:0003557	Increased variability in muscle fiber diameter	6443	SGCB	ORPHA:119
HP:0003557	Increased variability in muscle fiber diameter	203859	ANO5	ORPHA:206549
HP:0003558	Viral infection-induced rhabdomyolysis	283989	TSEN54	ORPHA:2524
HP:0003558	Viral infection-induced rhabdomyolysis	116461	TSEN15	ORPHA:2524
HP:0003558	Viral infection-induced rhabdomyolysis	79042	TSEN34	ORPHA:2524
HP:0003558	Viral infection-induced rhabdomyolysis	80746	TSEN2	ORPHA:2524
HP:0003558	Viral infection-induced rhabdomyolysis	51091	SEPSECS	ORPHA:2524
HP:0003558	Viral infection-induced rhabdomyolysis	226	ALDOA	ORPHA:57
HP:0003558	Viral infection-induced rhabdomyolysis	1716	DGUOK	ORPHA:329314
HP:0003558	Viral infection-induced rhabdomyolysis	23175	LPIN1	ORPHA:99845
HP:0003558	Viral infection-induced rhabdomyolysis	4512	MT-CO1	ORPHA:99845
HP:0003558	Viral infection-induced rhabdomyolysis	4514	MT-CO3	ORPHA:99845
HP:0003559	Muscle hyperirritability	859	CAV3	OMIM:606072
HP:0003561	Birth length less than 3rd percentile	9896	FIG4	OMIM:216340
HP:0003561	Birth length less than 3rd percentile	5295	PIK3R1	OMIM:269880
HP:0003561	Birth length less than 3rd percentile	4089	SMAD4	OMIM:139210
HP:0003561	Birth length less than 3rd percentile	6905	TBCE	OMIM:244460
HP:0003561	Birth length less than 3rd percentile	1968	EIF2S3	OMIM:300148
HP:0003561	Birth length less than 3rd percentile	4998	ORC1	OMIM:224690
HP:0003561	Birth length less than 3rd percentile	145173	B3GLCT	OMIM:261540
HP:0003561	Birth length less than 3rd percentile	1859	DYRK1A	OMIM:614104
HP:0003561	Birth length less than 3rd percentile	1859	DYRK1A	ORPHA:464311
HP:0003561	Birth length less than 3rd percentile	55627	SMPD4	OMIM:618622
HP:0003561	Birth length less than 3rd percentile	5000	ORC4	OMIM:613800
HP:0003561	Birth length less than 3rd percentile	81620	CDT1	OMIM:613804
HP:0003561	Birth length less than 3rd percentile	23594	ORC6	OMIM:613803
HP:0003561	Birth length less than 3rd percentile	990	CDC6	OMIM:613805
HP:0003561	Birth length less than 3rd percentile	5324	PLAG1	OMIM:618907
HP:0003561	Birth length less than 3rd percentile	8091	HMGA2	OMIM:618908
HP:0003562	Abnormal metaphyseal vascular invasion	59341	TRPV4	OMIM:156530
HP:0003563	Decreased LDL cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0003563	Decreased LDL cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0003563	Decreased LDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0003563	Decreased LDL cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0003563	Decreased LDL cholesterol concentration	26119	LDLRAP1	OMIM:603813
HP:0003563	Decreased LDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0003563	Decreased LDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0003563	Decreased LDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0003563	Decreased LDL cholesterol concentration	338	APOB	OMIM:615558
HP:0003563	Decreased LDL cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0003563	Decreased LDL cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0003563	Decreased LDL cholesterol concentration	80025	PANK2	OMIM:607236
HP:0003563	Decreased LDL cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0003563	Decreased LDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0003564	Folate-dependent fragile site at Xq28	2332	FMR1	ORPHA:908
HP:0003564	Folate-dependent fragile site at Xq28	2332	FMR1	OMIM:300624
HP:0003564	Folate-dependent fragile site at Xq28	84548	TMEM185A	ORPHA:100974
HP:0003565	Elevated erythrocyte sedimentation rate	26191	PTPN22	ORPHA:397
HP:0003565	Elevated erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	26191	PTPN22	ORPHA:900
HP:0003565	Elevated erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	26191	PTPN22	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	3106	HLA-B	ORPHA:397
HP:0003565	Elevated erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:397
HP:0003565	Elevated erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:85414
HP:0003565	Elevated erythrocyte sedimentation rate	3123	HLA-DRB1	OMIM:181000
HP:0003565	Elevated erythrocyte sedimentation rate	8974	P4HA2	ORPHA:397
HP:0003565	Elevated erythrocyte sedimentation rate	9663	LPIN2	OMIM:609628
HP:0003565	Elevated erythrocyte sedimentation rate	144811	LACC1	ORPHA:85414
HP:0003565	Elevated erythrocyte sedimentation rate	4282	MIF	ORPHA:85414
HP:0003565	Elevated erythrocyte sedimentation rate	3569	IL6	ORPHA:85414
HP:0003565	Elevated erythrocyte sedimentation rate	29775	CARD10	OMIM:619632
HP:0003565	Elevated erythrocyte sedimentation rate	11277	TREX1	OMIM:192315
HP:0003565	Elevated erythrocyte sedimentation rate	11277	TREX1	OMIM:610448
HP:0003565	Elevated erythrocyte sedimentation rate	6775	STAT4	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	6775	STAT4	ORPHA:93552
HP:0003565	Elevated erythrocyte sedimentation rate	6775	STAT4	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	919	CD247	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	919	CD247	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85410
HP:0003565	Elevated erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85408
HP:0003565	Elevated erythrocyte sedimentation rate	3702	ITK	OMIM:613011
HP:0003565	Elevated erythrocyte sedimentation rate	114548	NLRP3	OMIM:191900
HP:0003565	Elevated erythrocyte sedimentation rate	114548	NLRP3	OMIM:607115
HP:0003565	Elevated erythrocyte sedimentation rate	114548	NLRP3	ORPHA:575
HP:0003565	Elevated erythrocyte sedimentation rate	114548	NLRP3	ORPHA:1451
HP:0003565	Elevated erythrocyte sedimentation rate	27178	IL37	OMIM:619398
HP:0003565	Elevated erythrocyte sedimentation rate	4598	MVK	OMIM:260920
HP:0003565	Elevated erythrocyte sedimentation rate	4598	MVK	ORPHA:343
HP:0003565	Elevated erythrocyte sedimentation rate	4598	MVK	OMIM:610377
HP:0003565	Elevated erythrocyte sedimentation rate	5580	PRKCD	OMIM:615559
HP:0003565	Elevated erythrocyte sedimentation rate	6696	SPP1	ORPHA:93552
HP:0003565	Elevated erythrocyte sedimentation rate	3654	IRAK1	ORPHA:93552
HP:0003565	Elevated erythrocyte sedimentation rate	1493	CTLA4	ORPHA:900
HP:0003565	Elevated erythrocyte sedimentation rate	3115	HLA-DPB1	ORPHA:900
HP:0003565	Elevated erythrocyte sedimentation rate	5657	PRTN3	ORPHA:900
HP:0003565	Elevated erythrocyte sedimentation rate	3113	HLA-DPA1	ORPHA:900
HP:0003565	Elevated erythrocyte sedimentation rate	7040	TGFB1	ORPHA:1328
HP:0003565	Elevated erythrocyte sedimentation rate	4210	MEFV	ORPHA:342
HP:0003565	Elevated erythrocyte sedimentation rate	4210	MEFV	OMIM:249100
HP:0003565	Elevated erythrocyte sedimentation rate	4210	MEFV	ORPHA:3243
HP:0003565	Elevated erythrocyte sedimentation rate	4210	MEFV	OMIM:608068
HP:0003565	Elevated erythrocyte sedimentation rate	55315	SLC29A3	OMIM:602782
HP:0003565	Elevated erythrocyte sedimentation rate	7317	UBA1	OMIM:301054
HP:0003565	Elevated erythrocyte sedimentation rate	57169	ZNFX1	OMIM:619644
HP:0003565	Elevated erythrocyte sedimentation rate	1314	COPA	OMIM:616414
HP:0003565	Elevated erythrocyte sedimentation rate	51816	ADA2	OMIM:615688
HP:0003565	Elevated erythrocyte sedimentation rate	3459	IFNGR1	OMIM:209950
HP:0003565	Elevated erythrocyte sedimentation rate	843	CASP10	OMIM:603909
HP:0003565	Elevated erythrocyte sedimentation rate	3557	IL1RN	OMIM:612852
HP:0003565	Elevated erythrocyte sedimentation rate	91662	NLRP12	OMIM:611762
HP:0003565	Elevated erythrocyte sedimentation rate	7132	TNFRSF1A	ORPHA:32960
HP:0003565	Elevated erythrocyte sedimentation rate	7132	TNFRSF1A	OMIM:142680
HP:0003565	Elevated erythrocyte sedimentation rate	51371	POMP	OMIM:618048
HP:0003565	Elevated erythrocyte sedimentation rate	5692	PSMB4	OMIM:617591
HP:0003565	Elevated erythrocyte sedimentation rate	5698	PSMB9	OMIM:617591
HP:0003565	Elevated erythrocyte sedimentation rate	3930	LBR	OMIM:613471
HP:0003565	Elevated erythrocyte sedimentation rate	340061	STING1	OMIM:615934
HP:0003565	Elevated erythrocyte sedimentation rate	10095	ARPC1B	OMIM:617718
HP:0003565	Elevated erythrocyte sedimentation rate	6583	SLC22A4	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	4261	CIITA	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	51744	CD244	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	4795	NFKBIL1	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	3586	IL10	OMIM:180300
HP:0003565	Elevated erythrocyte sedimentation rate	2000	ELF4	OMIM:301074
HP:0003565	Elevated erythrocyte sedimentation rate	4615	MYD88	ORPHA:33226
HP:0003565	Elevated erythrocyte sedimentation rate	64127	NOD2	OMIM:617321
HP:0003565	Elevated erythrocyte sedimentation rate	4689	NCF4	OMIM:613960
HP:0003565	Elevated erythrocyte sedimentation rate	5696	PSMB8	OMIM:256040
HP:0003566	Increased serum prostaglandin E2	6557	SLC12A1	OMIM:601678
HP:0003566	Increased serum prostaglandin E2	3758	KCNJ1	OMIM:241200
HP:0008155	Mucopolysacchariduria	65082	VPS33A	ORPHA:505248
HP:0008155	Mucopolysacchariduria	6448	SGSH	OMIM:252900
HP:0008155	Mucopolysacchariduria	138050	HGSNAT	OMIM:252930
HP:0008155	Mucopolysacchariduria	4669	NAGLU	OMIM:252920
HP:0008155	Mucopolysacchariduria	2799	GNS	OMIM:252940
HP:0008155	Mucopolysacchariduria	285362	SUMF1	ORPHA:585
HP:0008155	Mucopolysacchariduria	285362	SUMF1	OMIM:272200
HP:0008155	Mucopolysacchariduria	2990	GUSB	ORPHA:584
HP:0008155	Mucopolysacchariduria	84572	GNPTG	OMIM:252605
HP:0008155	Mucopolysacchariduria	6023	RMRP	ORPHA:175
HP:0008155	Mucopolysacchariduria	59341	TRPV4	OMIM:184095
HP:0008155	Mucopolysacchariduria	5286	PIK3C2A	OMIM:618440
HP:0008155	Mucopolysacchariduria	3425	IDUA	ORPHA:93474
HP:0008155	Mucopolysacchariduria	3425	IDUA	ORPHA:93473
HP:0008155	Mucopolysacchariduria	79158	GNPTAB	OMIM:252600
HP:0008155	Mucopolysacchariduria	79158	GNPTAB	OMIM:252500
HP:0008155	Mucopolysacchariduria	2517	FUCA1	ORPHA:349
HP:0008155	Mucopolysacchariduria	3423	IDS	ORPHA:217085
HP:0008155	Mucopolysacchariduria	3423	IDS	OMIM:309900
HP:0008155	Mucopolysacchariduria	3423	IDS	ORPHA:217093
HP:0008155	Mucopolysacchariduria	153642	ARSK	OMIM:619698
HP:0008155	Mucopolysacchariduria	411	ARSB	OMIM:253200
HP:0008155	Mucopolysacchariduria	2720	GLB1	OMIM:253010
HP:0008155	Mucopolysacchariduria	2588	GALNS	OMIM:253000
HP:0008155	Mucopolysacchariduria	1280	COL2A1	ORPHA:485
HP:0008155	Mucopolysacchariduria	55768	NGLY1	OMIM:615273
HP:0003568	Decreased glucosephosphate isomerase level	2821	GPI	OMIM:613470
HP:0003198	Myopathy	64374	SIL1	OMIM:248800
HP:0003198	Myopathy	64374	SIL1	ORPHA:559
HP:0003198	Myopathy	1497	CTNS	OMIM:219800
HP:0003198	Myopathy	2218	FKTN	ORPHA:272
HP:0003198	Myopathy	2218	FKTN	ORPHA:154
HP:0003198	Myopathy	2218	FKTN	ORPHA:588
HP:0003198	Myopathy	9015	TAF1A	ORPHA:154
HP:0003198	Myopathy	5663	PSEN1	ORPHA:154
HP:0003198	Myopathy	6389	SDHA	ORPHA:154
HP:0003198	Myopathy	7112	TMPO	ORPHA:154
HP:0003198	Myopathy	9464	HAND2	ORPHA:154
HP:0003198	Myopathy	4625	MYH7	ORPHA:154
HP:0003198	Myopathy	4625	MYH7	OMIM:608358
HP:0003198	Myopathy	88	ACTN2	ORPHA:154
HP:0003198	Myopathy	10486	CAP2	ORPHA:154
HP:0003198	Myopathy	10060	ABCC9	ORPHA:154
HP:0003198	Myopathy	7168	TPM1	ORPHA:154
HP:0003198	Myopathy	7414	VCL	ORPHA:154
HP:0003198	Myopathy	1832	DSP	ORPHA:154
HP:0003198	Myopathy	70	ACTC1	ORPHA:154
HP:0003198	Myopathy	27063	ANKRD1	ORPHA:154
HP:0003198	Myopathy	8048	CSRP3	ORPHA:154
HP:0003198	Myopathy	1410	CRYAB	ORPHA:154
HP:0003198	Myopathy	4000	LMNA	ORPHA:154
HP:0003198	Myopathy	4000	LMNA	OMIM:610140
HP:0003198	Myopathy	4000	LMNA	ORPHA:280365
HP:0003198	Myopathy	4000	LMNA	ORPHA:157973
HP:0003198	Myopathy	4000	LMNA	ORPHA:98855
HP:0003198	Myopathy	4000	LMNA	ORPHA:98853
HP:0003198	Myopathy	4000	LMNA	ORPHA:2348
HP:0003198	Myopathy	7139	TNNT2	ORPHA:154
HP:0003198	Myopathy	1829	DSG2	ORPHA:154
HP:0003198	Myopathy	3910	LAMA4	ORPHA:154
HP:0003198	Myopathy	63976	PRDM16	ORPHA:154
HP:0003198	Myopathy	63976	PRDM16	ORPHA:1606
HP:0003198	Myopathy	7273	TTN	ORPHA:154
HP:0003198	Myopathy	7273	TTN	ORPHA:609
HP:0003198	Myopathy	7273	TTN	OMIM:611705
HP:0003198	Myopathy	10587	TXNRD2	ORPHA:154
HP:0003198	Myopathy	9531	BAG3	ORPHA:154
HP:0003198	Myopathy	5350	PLN	ORPHA:154
HP:0003198	Myopathy	91624	NEXN	ORPHA:154
HP:0003198	Myopathy	79717	PPCS	ORPHA:154
HP:0003198	Myopathy	5664	PSEN2	ORPHA:154
HP:0003198	Myopathy	4624	MYH6	ORPHA:154
HP:0003198	Myopathy	9529	BAG5	ORPHA:154
HP:0003198	Myopathy	4607	MYBPC3	ORPHA:154
HP:0003198	Myopathy	4607	MYBPC3	OMIM:115197
HP:0003198	Myopathy	282996	RBM20	ORPHA:154
HP:0003198	Myopathy	7137	TNNI3	ORPHA:154
HP:0003198	Myopathy	11155	LDB3	ORPHA:154
HP:0003198	Myopathy	2274	FHL2	ORPHA:154
HP:0003198	Myopathy	6901	TAFAZZIN	ORPHA:154
HP:0003198	Myopathy	22845	DOLK	ORPHA:154
HP:0003198	Myopathy	5894	RAF1	ORPHA:154
HP:0003198	Myopathy	1756	DMD	ORPHA:154
HP:0003198	Myopathy	57798	GATAD1	ORPHA:154
HP:0003198	Myopathy	7134	TNNC1	ORPHA:154
HP:0003198	Myopathy	84665	MYPN	ORPHA:154
HP:0003198	Myopathy	84665	MYPN	ORPHA:171439
HP:0003198	Myopathy	1674	DES	ORPHA:154
HP:0003198	Myopathy	6444	SGCD	ORPHA:154
HP:0003198	Myopathy	6331	SCN5A	ORPHA:154
HP:0003198	Myopathy	8557	TCAP	ORPHA:154
HP:0003198	Myopathy	8106	PABPN1	ORPHA:270
HP:0003198	Myopathy	80308	FLAD1	OMIM:255100
HP:0003198	Myopathy	51099	ABHD5	OMIM:275630
HP:0003198	Myopathy	51099	ABHD5	ORPHA:98907
HP:0003198	Myopathy	4125	MAN2B1	ORPHA:309282
HP:0003198	Myopathy	54344	DPM3	OMIM:618992
HP:0003198	Myopathy	54344	DPM3	OMIM:612937
HP:0003198	Myopathy	58	ACTA1	ORPHA:171436
HP:0003198	Myopathy	58	ACTA1	ORPHA:171439
HP:0003198	Myopathy	58	ACTA1	ORPHA:97244
HP:0003198	Myopathy	7169	TPM2	ORPHA:171436
HP:0003198	Myopathy	7169	TPM2	ORPHA:171439
HP:0003198	Myopathy	4703	NEB	ORPHA:171436
HP:0003198	Myopathy	4703	NEB	ORPHA:171439
HP:0003198	Myopathy	10324	KLHL41	ORPHA:171436
HP:0003198	Myopathy	10324	KLHL41	ORPHA:171439
HP:0003198	Myopathy	56203	LMOD3	ORPHA:171436
HP:0003198	Myopathy	1073	CFL2	ORPHA:171436
HP:0003198	Myopathy	57222	ERGIC1	OMIM:208100
HP:0003198	Myopathy	1763	DNA2	ORPHA:352470
HP:0003198	Myopathy	1763	DNA2	OMIM:615156
HP:0003198	Myopathy	22954	TRIM32	ORPHA:1878
HP:0003198	Myopathy	29925	GMPPB	ORPHA:353327
HP:0003198	Myopathy	29925	GMPPB	ORPHA:588
HP:0003198	Myopathy	2673	GFPT1	ORPHA:353327
HP:0003198	Myopathy	1798	DPAGT1	ORPHA:353327
HP:0003198	Myopathy	85365	ALG2	ORPHA:353327
HP:0003198	Myopathy	199857	ALG14	ORPHA:353327
HP:0003198	Myopathy	4512	MT-CO1	OMIM:540000
HP:0003198	Myopathy	4512	MT-CO1	ORPHA:104
HP:0003198	Myopathy	4512	MT-CO1	ORPHA:550
HP:0003198	Myopathy	4513	MT-CO2	OMIM:540000
HP:0003198	Myopathy	4513	MT-CO2	ORPHA:550
HP:0003198	Myopathy	4514	MT-CO3	OMIM:540000
HP:0003198	Myopathy	4514	MT-CO3	ORPHA:104
HP:0003198	Myopathy	4514	MT-CO3	OMIM:535000
HP:0003198	Myopathy	4514	MT-CO3	ORPHA:550
HP:0003198	Myopathy	4519	MT-CYB	OMIM:540000
HP:0003198	Myopathy	4519	MT-CYB	ORPHA:104
HP:0003198	Myopathy	4519	MT-CYB	OMIM:535000
HP:0003198	Myopathy	4511	MT-TC	OMIM:540000
HP:0003198	Myopathy	4574	MT-TS1	OMIM:540000
HP:0003198	Myopathy	4574	MT-TS1	ORPHA:551
HP:0003198	Myopathy	4574	MT-TS1	ORPHA:550
HP:0003198	Myopathy	4575	MT-TS2	OMIM:540000
HP:0003198	Myopathy	4575	MT-TS2	ORPHA:551
HP:0003198	Myopathy	4575	MT-TS2	ORPHA:550
HP:0003198	Myopathy	4558	MT-TF	OMIM:540000
HP:0003198	Myopathy	4558	MT-TF	OMIM:545000
HP:0003198	Myopathy	4558	MT-TF	ORPHA:551
HP:0003198	Myopathy	4558	MT-TF	ORPHA:550
HP:0003198	Myopathy	4541	MT-ND6	OMIM:540000
HP:0003198	Myopathy	4541	MT-ND6	ORPHA:104
HP:0003198	Myopathy	4541	MT-ND6	OMIM:535000
HP:0003198	Myopathy	4541	MT-ND6	ORPHA:550
HP:0003198	Myopathy	4567	MT-TL1	OMIM:540000
HP:0003198	Myopathy	4567	MT-TL1	OMIM:545000
HP:0003198	Myopathy	4567	MT-TL1	ORPHA:551
HP:0003198	Myopathy	4567	MT-TL1	ORPHA:550
HP:0003198	Myopathy	4540	MT-ND5	OMIM:540000
HP:0003198	Myopathy	4540	MT-ND5	ORPHA:104
HP:0003198	Myopathy	4540	MT-ND5	OMIM:535000
HP:0003198	Myopathy	4540	MT-ND5	ORPHA:551
HP:0003198	Myopathy	4540	MT-ND5	ORPHA:550
HP:0003198	Myopathy	4566	MT-TK	OMIM:540000
HP:0003198	Myopathy	4566	MT-TK	OMIM:545000
HP:0003198	Myopathy	4566	MT-TK	ORPHA:551
HP:0003198	Myopathy	4535	MT-ND1	OMIM:540000
HP:0003198	Myopathy	4535	MT-ND1	ORPHA:104
HP:0003198	Myopathy	4535	MT-ND1	OMIM:535000
HP:0003198	Myopathy	4535	MT-ND1	ORPHA:550
HP:0003198	Myopathy	4572	MT-TQ	OMIM:540000
HP:0003198	Myopathy	4572	MT-TQ	ORPHA:551
HP:0003198	Myopathy	4572	MT-TQ	ORPHA:550
HP:0003198	Myopathy	4577	MT-TV	OMIM:540000
HP:0003198	Myopathy	4578	MT-TW	OMIM:540000
HP:0003198	Myopathy	4578	MT-TW	ORPHA:550
HP:0003198	Myopathy	50484	RRM2B	OMIM:613077
HP:0003198	Myopathy	50484	RRM2B	ORPHA:254892
HP:0003198	Myopathy	2671	GFER	OMIM:613076
HP:0003198	Myopathy	113189	CHST14	ORPHA:2953
HP:0003198	Myopathy	29940	DSE	ORPHA:2953
HP:0003198	Myopathy	84876	ORAI1	OMIM:612782
HP:0003198	Myopathy	92579	G6PC3	OMIM:612541
HP:0003198	Myopathy	6786	STIM1	OMIM:612783
HP:0003198	Myopathy	6786	STIM1	OMIM:185070
HP:0003198	Myopathy	6786	STIM1	OMIM:160565
HP:0003198	Myopathy	5468	PPARG	ORPHA:79083
HP:0003198	Myopathy	84823	LMNB2	ORPHA:79087
HP:0003198	Myopathy	8878	SQSTM1	ORPHA:603
HP:0003198	Myopathy	7072	TIA1	ORPHA:603
HP:0003198	Myopathy	4508	MT-ATP6	OMIM:551500
HP:0003198	Myopathy	4508	MT-ATP6	ORPHA:104
HP:0003198	Myopathy	4508	MT-ATP6	OMIM:535000
HP:0003198	Myopathy	4620	MYH2	OMIM:605637
HP:0003198	Myopathy	1303	COL12A1	OMIM:616471
HP:0003198	Myopathy	4571	MT-TP	OMIM:545000
HP:0003198	Myopathy	4571	MT-TP	ORPHA:551
HP:0003198	Myopathy	4565	MT-TI	OMIM:545000
HP:0003198	Myopathy	5442	POLRMT	OMIM:619743
HP:0003198	Myopathy	5224	PGAM2	OMIM:261670
HP:0003198	Myopathy	23230	VPS13A	ORPHA:2388
HP:0003198	Myopathy	79731	NARS2	OMIM:616239
HP:0003198	Myopathy	5230	PGK1	ORPHA:713
HP:0003198	Myopathy	5230	PGK1	OMIM:300653
HP:0003198	Myopathy	28976	ACAD9	ORPHA:99901
HP:0003198	Myopathy	6261	RYR1	ORPHA:597
HP:0003198	Myopathy	6261	RYR1	ORPHA:424107
HP:0003198	Myopathy	6329	SCN4A	OMIM:170400
HP:0003198	Myopathy	6329	SCN4A	OMIM:613345
HP:0003198	Myopathy	6329	SCN4A	OMIM:168300
HP:0003198	Myopathy	6329	SCN4A	ORPHA:682
HP:0003198	Myopathy	779	CACNA1S	OMIM:170400
HP:0003198	Myopathy	2318	FLNC	OMIM:614065
HP:0003198	Myopathy	7498	XDH	OMIM:278300
HP:0003198	Myopathy	4576	MT-TT	OMIM:551000
HP:0003198	Myopathy	4744	NEFH	OMIM:616924
HP:0003198	Myopathy	6804	STX1A	ORPHA:904
HP:0003198	Myopathy	7461	CLIP2	ORPHA:904
HP:0003198	Myopathy	84277	DNAJC30	ORPHA:904
HP:0003198	Myopathy	84277	DNAJC30	ORPHA:104
HP:0003198	Myopathy	8468	FKBP6	ORPHA:904
HP:0003198	Myopathy	5982	RFC2	ORPHA:904
HP:0003198	Myopathy	2969	GTF2I	ORPHA:904
HP:0003198	Myopathy	3984	LIMK1	ORPHA:904
HP:0003198	Myopathy	9569	GTF2IRD1	ORPHA:904
HP:0003198	Myopathy	155382	VPS37D	ORPHA:904
HP:0003198	Myopathy	155368	METTL27	ORPHA:904
HP:0003198	Myopathy	114049	BUD23	ORPHA:904
HP:0003198	Myopathy	7458	EIF4H	ORPHA:904
HP:0003198	Myopathy	84163	GTF2IRD2	ORPHA:904
HP:0003198	Myopathy	9275	BCL7B	ORPHA:904
HP:0003198	Myopathy	26608	TBL2	ORPHA:904
HP:0003198	Myopathy	653361	NCF1	ORPHA:904
HP:0003198	Myopathy	135886	TMEM270	ORPHA:904
HP:0003198	Myopathy	51085	MLXIPL	ORPHA:904
HP:0003198	Myopathy	9031	BAZ1B	ORPHA:904
HP:0003198	Myopathy	2006	ELN	ORPHA:904
HP:0003198	Myopathy	5728	PTEN	ORPHA:109
HP:0003198	Myopathy	5590	PRKCZ	ORPHA:1606
HP:0003198	Myopathy	2563	GABRD	ORPHA:1606
HP:0003198	Myopathy	23013	SPEN	ORPHA:1606
HP:0003198	Myopathy	8510	MMP23B	ORPHA:1606
HP:0003198	Myopathy	7798	LUZP1	ORPHA:1606
HP:0003198	Myopathy	6497	SKI	ORPHA:1606
HP:0003198	Myopathy	10630	PDPN	ORPHA:1606
HP:0003198	Myopathy	3339	HSPG2	ORPHA:1606
HP:0003198	Myopathy	3339	HSPG2	ORPHA:800
HP:0003198	Myopathy	10277	UBE4B	ORPHA:1606
HP:0003198	Myopathy	8514	KCNAB2	ORPHA:1606
HP:0003198	Myopathy	473	RERE	ORPHA:1606
HP:0003198	Myopathy	54897	CASZ1	ORPHA:1606
HP:0003198	Myopathy	493856	CISD2	ORPHA:3463
HP:0003198	Myopathy	7466	WFS1	ORPHA:3463
HP:0003198	Myopathy	4536	MT-ND2	ORPHA:104
HP:0003198	Myopathy	4536	MT-ND2	OMIM:535000
HP:0003198	Myopathy	4538	MT-ND4	ORPHA:104
HP:0003198	Myopathy	4538	MT-ND4	OMIM:535000
HP:0003198	Myopathy	4538	MT-ND4	ORPHA:550
HP:0003198	Myopathy	4720	NDUFS2	ORPHA:104
HP:0003198	Myopathy	4539	MT-ND4L	ORPHA:104
HP:0003198	Myopathy	4539	MT-ND4L	OMIM:535000
HP:0003198	Myopathy	148789	B3GALNT2	ORPHA:588
HP:0003198	Myopathy	79147	FKRP	ORPHA:588
HP:0003198	Myopathy	9215	LARGE1	ORPHA:588
HP:0003198	Myopathy	29954	POMT2	ORPHA:588
HP:0003198	Myopathy	55624	POMGNT1	ORPHA:588
HP:0003198	Myopathy	10585	POMT1	ORPHA:588
HP:0003198	Myopathy	10585	POMT1	ORPHA:86812
HP:0003198	Myopathy	80025	PANK2	OMIM:234200
HP:0003198	Myopathy	92667	MGME1	ORPHA:352447
HP:0003198	Myopathy	8905	AP1S2	ORPHA:85329
HP:0003198	Myopathy	6392	SDHD	ORPHA:100093
HP:0003198	Myopathy	2729	GCLC	ORPHA:33574
HP:0003198	Myopathy	2729	GCLC	OMIM:230450
HP:0003198	Myopathy	51128	SAR1B	ORPHA:71
HP:0003198	Myopathy	51244	CCDC174	OMIM:616816
HP:0003198	Myopathy	57104	PNPLA2	OMIM:610717
HP:0003198	Myopathy	57104	PNPLA2	ORPHA:98908
HP:0003198	Myopathy	5339	PLEC	ORPHA:257
HP:0003198	Myopathy	57724	EPG5	OMIM:242840
HP:0003198	Myopathy	34	ACADM	ORPHA:42
HP:0003198	Myopathy	6843	VAMP1	OMIM:618323
HP:0003198	Myopathy	249	ALPL	OMIM:241510
HP:0003198	Myopathy	859	CAV3	OMIM:123320
HP:0003198	Myopathy	859	CAV3	OMIM:614321
HP:0003198	Myopathy	859	CAV3	ORPHA:206599
HP:0003198	Myopathy	390594	KBTBD13	ORPHA:171439
HP:0003198	Myopathy	390594	KBTBD13	OMIM:609273
HP:0003198	Myopathy	7170	TPM3	ORPHA:171439
HP:0003198	Myopathy	80324	PUS1	ORPHA:2598
HP:0003198	Myopathy	51067	YARS2	ORPHA:2598
HP:0003198	Myopathy	2273	FHL1	ORPHA:98863
HP:0003198	Myopathy	2010	EMD	ORPHA:98863
HP:0003198	Myopathy	2010	EMD	OMIM:310300
HP:0003198	Myopathy	23479	ISCU	OMIM:255125
HP:0003198	Myopathy	178	AGL	ORPHA:366
HP:0003198	Myopathy	178	AGL	OMIM:232400
HP:0003198	Myopathy	5428	POLG	OMIM:607459
HP:0003198	Myopathy	5428	POLG	ORPHA:254892
HP:0003198	Myopathy	5428	POLG	ORPHA:254886
HP:0003198	Myopathy	56652	TWNK	OMIM:607459
HP:0003198	Myopathy	56652	TWNK	ORPHA:254892
HP:0003198	Myopathy	3991	LIPE	OMIM:615980
HP:0003198	Myopathy	6443	SGCB	ORPHA:119
HP:0003198	Myopathy	389827	MYMK	OMIM:254940
HP:0003198	Myopathy	389827	MYMK	ORPHA:1358
HP:0003198	Myopathy	79188	TMEM43	ORPHA:98853
HP:0003198	Myopathy	23345	SYNE1	ORPHA:98853
HP:0003198	Myopathy	23224	SYNE2	ORPHA:98853
HP:0003198	Myopathy	23224	SYNE2	OMIM:612999
HP:0003198	Myopathy	4549	MT-RNR1	ORPHA:551
HP:0003198	Myopathy	4564	MT-TH	ORPHA:551
HP:0003198	Myopathy	4564	MT-TH	ORPHA:550
HP:0003198	Myopathy	291	SLC25A4	ORPHA:254892
HP:0003198	Myopathy	291	SLC25A4	ORPHA:1369
HP:0003198	Myopathy	11232	POLG2	ORPHA:254892
HP:0003198	Myopathy	5979	RET	OMIM:162300
HP:0003198	Myopathy	57190	SELENON	ORPHA:97244
HP:0003198	Myopathy	51422	PRKAG2	OMIM:261740
HP:0003198	Myopathy	270	AMPD1	OMIM:615511
HP:0003198	Myopathy	7167	TPI1	OMIM:615512
HP:0003198	Myopathy	7415	VCP	OMIM:167320
HP:0003198	Myopathy	203547	VMA21	OMIM:310440
HP:0003198	Myopathy	5250	SLC25A3	ORPHA:91130
HP:0003198	Myopathy	26007	TKFC	ORPHA:1369
HP:0003198	Myopathy	55750	AGK	ORPHA:1369
HP:0003198	Myopathy	55750	AGK	OMIM:212350
HP:0003198	Myopathy	1120	CHKB	OMIM:602541
HP:0003198	Myopathy	26580	BSCL2	ORPHA:363400
HP:0003198	Myopathy	7084	TK2	ORPHA:254886
HP:0003198	Myopathy	7084	TK2	ORPHA:254875
HP:0003198	Myopathy	51103	NDUFAF1	OMIM:618234
HP:0003198	Myopathy	126328	NDUFA11	OMIM:618236
HP:0003198	Myopathy	844	CASQ1	ORPHA:88635
HP:0003198	Myopathy	6905	TBCE	ORPHA:2323
HP:0003198	Myopathy	29078	NDUFAF4	OMIM:618237
HP:0003198	Myopathy	55033	FKBP14	OMIM:614557
HP:0003198	Myopathy	55033	FKBP14	ORPHA:300179
HP:0003198	Myopathy	4976	OPA1	OMIM:125250
HP:0003198	Myopathy	4976	OPA1	ORPHA:98673
HP:0003198	Myopathy	4976	OPA1	ORPHA:1215
HP:0003198	Myopathy	2710	GK	OMIM:307030
HP:0003198	Myopathy	1297	COL9A1	ORPHA:166002
HP:0003198	Myopathy	1298	COL9A2	ORPHA:166002
HP:0003198	Myopathy	1299	COL9A3	ORPHA:166002
HP:0003198	Myopathy	101929726	MYMX	ORPHA:1358
HP:0003198	Myopathy	10059	DNM1L	ORPHA:98673
HP:0003198	Myopathy	1145	CHRNE	OMIM:605809
HP:0003198	Myopathy	4709	NDUFB3	OMIM:618246
HP:0003198	Myopathy	122622	ADSS1	OMIM:617030
HP:0003198	Myopathy	80224	NUBPL	OMIM:618242
HP:0003198	Myopathy	825	CAPN3	OMIM:618129
HP:0003198	Myopathy	57211	ADGRG6	OMIM:616503
HP:0003198	Myopathy	708	C1QBP	OMIM:617713
HP:0003198	Myopathy	1063	CENPF	OMIM:243605
HP:0003198	Myopathy	4547	MTTP	ORPHA:14
HP:0003198	Myopathy	4556	MT-TE	ORPHA:254864
HP:0003198	Myopathy	55687	TRMU	ORPHA:254864
HP:0003198	Myopathy	4507	MTAP	OMIM:112250
HP:0003198	Myopathy	7317	UBA1	OMIM:301830
HP:0003198	Myopathy	3178	HNRNPA1	OMIM:615424
HP:0003198	Myopathy	3181	HNRNPA2B1	OMIM:615422
HP:0003198	Myopathy	2683	B4GALT1	OMIM:607091
HP:0003198	Myopathy	51763	INPP5K	ORPHA:559
HP:0003198	Myopathy	7138	TNNT1	OMIM:605355
HP:0003198	Myopathy	9997	SCO2	OMIM:604377
HP:0003198	Myopathy	79784	MYH14	ORPHA:397744
HP:0003198	Myopathy	35	ACADS	OMIM:201470
HP:0003198	Myopathy	35	ACADS	ORPHA:26792
HP:0003198	Myopathy	31	ACACA	OMIM:613933
HP:0003198	Myopathy	7504	XK	OMIM:300842
HP:0003198	Myopathy	226	ALDOA	OMIM:611881
HP:0003198	Myopathy	8292	COLQ	ORPHA:98915
HP:0003198	Myopathy	8292	COLQ	OMIM:603034
HP:0003198	Myopathy	3913	LAMB2	ORPHA:98915
HP:0003198	Myopathy	3030	HADHA	OMIM:609015
HP:0003198	Myopathy	26137	ZBTB20	ORPHA:3042
HP:0003198	Myopathy	84700	MYO18B	OMIM:616549
HP:0003198	Myopathy	55005	RMND1	OMIM:614922
HP:0003198	Myopathy	1376	CPT2	ORPHA:228305
HP:0003198	Myopathy	8291	DYSF	OMIM:606768
HP:0003198	Myopathy	60684	TRAPPC11	ORPHA:369840
HP:0003198	Myopathy	60684	TRAPPC11	ORPHA:369847
HP:0003198	Myopathy	1291	COL6A1	OMIM:158810
HP:0003198	Myopathy	1292	COL6A2	OMIM:158810
HP:0003198	Myopathy	1293	COL6A3	OMIM:158810
HP:0003198	Myopathy	1140	CHRNB1	OMIM:616314
HP:0003198	Myopathy	1140	CHRNB1	OMIM:616313
HP:0003198	Myopathy	4654	MYOD1	OMIM:618975
HP:0003198	Myopathy	9987	HNRNPDL	OMIM:609115
HP:0003198	Myopathy	6584	SLC22A5	OMIM:212140
HP:0003198	Myopathy	353116	RILPL1	OMIM:619790
HP:0003198	Myopathy	10020	GNE	OMIM:605820
HP:0003198	Myopathy	10020	GNE	ORPHA:602
HP:0003198	Myopathy	4747	NEFL	ORPHA:99939
HP:0003198	Myopathy	274	BIN1	ORPHA:169189
HP:0003198	Myopathy	274	BIN1	OMIM:255200
HP:0003198	Myopathy	64419	MTMR14	ORPHA:169189
HP:0003198	Myopathy	64419	MTMR14	OMIM:160150
HP:0003198	Myopathy	4618	MYF6	ORPHA:169189
HP:0003198	Myopathy	1785	DNM2	ORPHA:169189
HP:0003198	Myopathy	1785	DNM2	OMIM:160150
HP:0003198	Myopathy	6442	SGCA	OMIM:608099
HP:0003198	Myopathy	6840	SVIL	OMIM:619040
HP:0003198	Myopathy	3714	JAG2	OMIM:619566
HP:0003198	Myopathy	84466	MEGF10	OMIM:614399
HP:0003198	Myopathy	2260	FGFR1	ORPHA:280200
HP:0003198	Myopathy	28514	DLL1	ORPHA:280200
HP:0003198	Myopathy	2253	FGF8	ORPHA:280200
HP:0003198	Myopathy	6496	SIX3	ORPHA:280200
HP:0003198	Myopathy	7050	TGIF1	ORPHA:280200
HP:0003198	Myopathy	4838	NODAL	ORPHA:280200
HP:0003198	Myopathy	6469	SHH	ORPHA:280200
HP:0003198	Myopathy	51684	SUFU	ORPHA:280200
HP:0003198	Myopathy	7546	ZIC2	ORPHA:280200
HP:0003198	Myopathy	2619	GAS1	ORPHA:280200
HP:0003198	Myopathy	84976	DISP1	ORPHA:280200
HP:0003198	Myopathy	2736	GLI2	ORPHA:280200
HP:0003198	Myopathy	8928	FOXH1	ORPHA:280200
HP:0003198	Myopathy	5727	PTCH1	ORPHA:280200
HP:0003198	Myopathy	50937	CDON	ORPHA:280200
HP:0003198	Myopathy	146862	UNC45B	OMIM:619178
HP:0003198	Myopathy	64856	VWA1	OMIM:619216
HP:0003198	Myopathy	4604	MYBPC1	OMIM:618524
HP:0003198	Myopathy	29967	LRP12	OMIM:164310
HP:0003198	Myopathy	5351	PLOD1	ORPHA:1900
HP:0003198	Myopathy	128989	TANGO2	ORPHA:480864
HP:0003198	Myopathy	2992	GYG1	ORPHA:263297
HP:0003198	Myopathy	729920	CRPPA	ORPHA:370980
HP:0003198	Myopathy	55154	MSTO1	ORPHA:502423
HP:0003198	Myopathy	6445	SGCG	ORPHA:353
HP:0003198	Myopathy	10755	GIPC1	OMIM:618940
HP:0003198	Myopathy	259232	NALCN	ORPHA:371364
HP:0003198	Myopathy	285175	UNC80	ORPHA:371364
HP:0003198	Myopathy	55958	KLHL9	ORPHA:399081
HP:0003198	Myopathy	60482	SLC5A7	ORPHA:98914
HP:0003198	Myopathy	4649	MYO9A	ORPHA:98914
HP:0003198	Myopathy	1305	COL13A1	ORPHA:98914
HP:0003198	Myopathy	1305	COL13A1	ORPHA:98913
HP:0003198	Myopathy	1103	CHAT	ORPHA:98914
HP:0003198	Myopathy	6576	SLC25A1	ORPHA:98914
HP:0003198	Myopathy	375790	AGRN	ORPHA:98914
HP:0003198	Myopathy	375790	AGRN	ORPHA:98913
HP:0003198	Myopathy	127833	SYT2	ORPHA:98914
HP:0003198	Myopathy	6572	SLC18A3	ORPHA:98914
HP:0003198	Myopathy	6616	SNAP25	ORPHA:98914
HP:0003198	Myopathy	1134	CHRNA1	ORPHA:98913
HP:0003198	Myopathy	4038	LRP4	ORPHA:98913
HP:0003198	Myopathy	1144	CHRND	ORPHA:98913
HP:0003198	Myopathy	4593	MUSK	ORPHA:98913
HP:0003198	Myopathy	5913	RAPSN	ORPHA:98913
HP:0003198	Myopathy	221264	AK9	ORPHA:98913
HP:0003198	Myopathy	285489	DOK7	ORPHA:98913
HP:0003198	Myopathy	3920	LAMP2	OMIM:300257
HP:0003198	Myopathy	8449	DHX16	OMIM:618733
HP:0003198	Myopathy	400916	CHCHD10	ORPHA:276435
HP:0003198	Myopathy	23534	TNPO3	OMIM:608423
HP:0003198	Myopathy	203859	ANO5	OMIM:611307
HP:0003198	Myopathy	203859	ANO5	ORPHA:206549
HP:0003198	Myopathy	10049	DNAJB6	ORPHA:34516
HP:0003198	Myopathy	131377	KLHL40	OMIM:615348
HP:0003198	Myopathy	9499	MYOT	OMIM:609200
HP:0003198	Myopathy	207	AKT1	ORPHA:744
HP:0003198	Myopathy	1311	COMP	ORPHA:750
HP:0003198	Myopathy	6390	SDHB	ORPHA:3208
HP:0003198	Myopathy	644096	SDHAF1	ORPHA:3208
HP:0003198	Myopathy	3032	HADHB	ORPHA:746
HP:0003198	Myopathy	8087	FXR1	OMIM:618823
HP:0003198	Myopathy	9325	TRIP4	ORPHA:486815
HP:0003198	Myopathy	9782	MATR3	ORPHA:600
HP:0003570	Molybdenum cofactor deficiency	10243	GPHN	OMIM:615501
HP:0003570	Molybdenum cofactor deficiency	4337	MOCS1	OMIM:252150
HP:0003570	Molybdenum cofactor deficiency	4338	MOCS2	OMIM:252160
HP:0003572	Low plasma citrulline	763	CA5A	OMIM:615751
HP:0003572	Low plasma citrulline	5009	OTC	OMIM:311250
HP:0003572	Low plasma citrulline	4535	MT-ND1	ORPHA:255210
HP:0003572	Low plasma citrulline	4536	MT-ND2	ORPHA:255210
HP:0003572	Low plasma citrulline	4537	MT-ND3	ORPHA:255210
HP:0003572	Low plasma citrulline	4538	MT-ND4	ORPHA:255210
HP:0003572	Low plasma citrulline	4567	MT-TL1	ORPHA:255210
HP:0003572	Low plasma citrulline	4578	MT-TW	ORPHA:255210
HP:0003572	Low plasma citrulline	4577	MT-TV	ORPHA:255210
HP:0003572	Low plasma citrulline	4508	MT-ATP6	ORPHA:255210
HP:0003572	Low plasma citrulline	4540	MT-ND5	ORPHA:255210
HP:0003572	Low plasma citrulline	4541	MT-ND6	ORPHA:255210
HP:0003572	Low plasma citrulline	4566	MT-TK	ORPHA:255210
HP:0003572	Low plasma citrulline	29960	MRM2	OMIM:618567
HP:0003572	Low plasma citrulline	498	ATP5F1A	OMIM:620358
HP:0003572	Low plasma citrulline	1373	CPS1	OMIM:237300
HP:0003572	Low plasma citrulline	5832	ALDH18A1	OMIM:219150
HP:0003572	Low plasma citrulline	5105	PCK1	OMIM:261680
HP:0003573	Increased total bilirubin	5551	PRF1	OMIM:603553
HP:0003573	Increased total bilirubin	1376	CPT2	OMIM:608836
HP:0003573	Increased total bilirubin	51601	LIPT1	OMIM:616299
HP:0003573	Increased total bilirubin	11232	POLG2	OMIM:618528
HP:0003573	Increased total bilirubin	5213	PFKM	OMIM:232800
HP:0003573	Increased total bilirubin	11231	SEC63	ORPHA:2924
HP:0003573	Increased total bilirubin	5589	PRKCSH	ORPHA:2924
HP:0003573	Increased total bilirubin	5589	PRKCSH	OMIM:174050
HP:0003573	Increased total bilirubin	4041	LRP5	ORPHA:2924
HP:0003573	Increased total bilirubin	51473	DCDC2	ORPHA:84081
HP:0003573	Increased total bilirubin	91147	TMEM67	ORPHA:84081
HP:0003573	Increased total bilirubin	4645	MYO5B	OMIM:619868
HP:0003573	Increased total bilirubin	6521	SLC4A1	ORPHA:3202
HP:0003573	Increased total bilirubin	9780	PIEZO1	ORPHA:3202
HP:0003573	Increased total bilirubin	3783	KCNN4	ORPHA:3202
HP:0003574	Positive regitine blocking test	55654	TMEM127	OMIM:171300
HP:0003574	Positive regitine blocking test	55654	TMEM127	ORPHA:29072
HP:0003574	Positive regitine blocking test	5979	RET	OMIM:171300
HP:0003574	Positive regitine blocking test	5979	RET	ORPHA:29072
HP:0003574	Positive regitine blocking test	5979	RET	ORPHA:276621
HP:0003574	Positive regitine blocking test	6390	SDHB	OMIM:171300
HP:0003574	Positive regitine blocking test	6390	SDHB	ORPHA:29072
HP:0003574	Positive regitine blocking test	6390	SDHB	ORPHA:276621
HP:0003574	Positive regitine blocking test	6392	SDHD	OMIM:171300
HP:0003574	Positive regitine blocking test	6392	SDHD	ORPHA:29072
HP:0003574	Positive regitine blocking test	6392	SDHD	ORPHA:276621
HP:0003574	Positive regitine blocking test	4149	MAX	OMIM:171300
HP:0003574	Positive regitine blocking test	4149	MAX	ORPHA:29072
HP:0003574	Positive regitine blocking test	7428	VHL	OMIM:171300
HP:0003574	Positive regitine blocking test	7428	VHL	ORPHA:29072
HP:0003574	Positive regitine blocking test	7428	VHL	ORPHA:276621
HP:0003574	Positive regitine blocking test	1743	DLST	ORPHA:29072
HP:0003574	Positive regitine blocking test	4191	MDH2	ORPHA:29072
HP:0003574	Positive regitine blocking test	6389	SDHA	ORPHA:29072
HP:0003574	Positive regitine blocking test	23095	KIF1B	ORPHA:29072
HP:0003574	Positive regitine blocking test	2271	FH	ORPHA:29072
HP:0003574	Positive regitine blocking test	8402	SLC25A11	ORPHA:29072
HP:0003574	Positive regitine blocking test	54949	SDHAF2	ORPHA:29072
HP:0003574	Positive regitine blocking test	4763	NF1	ORPHA:29072
HP:0003574	Positive regitine blocking test	6391	SDHC	ORPHA:29072
HP:0003574	Positive regitine blocking test	1788	DNMT3A	ORPHA:276621
HP:0003574	Positive regitine blocking test	2034	EPAS1	ORPHA:276621
HP:0003575	Increased intracellular sodium	6005	RHAG	OMIM:185000
HP:0003575	Increased intracellular sodium	6513	SLC2A1	ORPHA:168577
HP:0003593	Infantile onset	2673	GFPT1	OMIM:608931
HP:0003593	Infantile onset	1145	CHRNE	OMIM:608931
HP:0003593	Infantile onset	1145	CHRNE	OMIM:616324
HP:0003593	Infantile onset	7428	VHL	OMIM:263400
HP:0003593	Infantile onset	3071	NCKAP1L	OMIM:618982
HP:0003593	Infantile onset	51256	TBC1D7	OMIM:248000
HP:0003593	Infantile onset	340533	NEXMIF	OMIM:300912
HP:0003593	Infantile onset	1144	CHRND	OMIM:616322
HP:0003593	Infantile onset	1144	CHRND	OMIM:616321
HP:0003593	Infantile onset	2775	GNAO1	OMIM:615473
HP:0003593	Infantile onset	2775	GNAO1	OMIM:617493
HP:0003593	Infantile onset	23135	KDM6B	OMIM:618505
HP:0003593	Infantile onset	79827	CLMP	OMIM:615237
HP:0003593	Infantile onset	4593	MUSK	OMIM:616325
HP:0003593	Infantile onset	8573	CASK	OMIM:300908
HP:0003593	Infantile onset	2539	G6PD	OMIM:300908
HP:0003593	Infantile onset	7291	TWIST1	OMIM:123100
HP:0003593	Infantile onset	7291	TWIST1	OMIM:180750
HP:0003593	Infantile onset	55240	STEAP3	OMIM:615234
HP:0003593	Infantile onset	23334	SZT2	OMIM:615476
HP:0003593	Infantile onset	4919	ROR1	OMIM:617654
HP:0003593	Infantile onset	9254	CACNA2D2	OMIM:618501
HP:0003593	Infantile onset	3767	KCNJ11	OMIM:616329
HP:0003593	Infantile onset	3767	KCNJ11	OMIM:610582
HP:0003593	Infantile onset	81570	CLPB	OMIM:619835
HP:0003593	Infantile onset	81570	CLPB	OMIM:619813
HP:0003593	Infantile onset	81570	CLPB	OMIM:616271
HP:0003593	Infantile onset	1134	CHRNA1	OMIM:608930
HP:0003593	Infantile onset	1134	CHRNA1	OMIM:601462
HP:0003593	Infantile onset	4552	MTRR	OMIM:236270
HP:0003593	Infantile onset	54332	GDAP1	OMIM:607831
HP:0003593	Infantile onset	54332	GDAP1	OMIM:214400
HP:0003593	Infantile onset	54332	GDAP1	OMIM:608340
HP:0003593	Infantile onset	56704	JPH1	OMIM:607831
HP:0003593	Infantile onset	161582	DNAAF4	OMIM:615482
HP:0003593	Infantile onset	4210	MEFV	OMIM:249100
HP:0003593	Infantile onset	65993	MRPS34	OMIM:617664
HP:0003593	Infantile onset	4141	MARS1	OMIM:615486
HP:0003593	Infantile onset	4141	MARS1	OMIM:619692
HP:0003593	Infantile onset	283489	CHAMP1	OMIM:616579
HP:0003593	Infantile onset	477	ATP1A2	OMIM:619605
HP:0003593	Infantile onset	1841	DTYMK	OMIM:619847
HP:0003593	Infantile onset	6487	ST3GAL3	OMIM:615006
HP:0003593	Infantile onset	478	ATP1A3	OMIM:619606
HP:0003593	Infantile onset	478	ATP1A3	OMIM:601338
HP:0003593	Infantile onset	166378	AFG2A	OMIM:616577
HP:0003593	Infantile onset	84936	ZFYVE19	OMIM:619849
HP:0003593	Infantile onset	7532	YWHAG	OMIM:617665
HP:0003593	Infantile onset	55904	KMT2E	OMIM:618512
HP:0003593	Infantile onset	16	AARS1	OMIM:616339
HP:0003593	Infantile onset	16	AARS1	OMIM:619691
HP:0003593	Infantile onset	84520	GON7	OMIM:619603
HP:0003593	Infantile onset	51112	TRAPPC12	OMIM:617669
HP:0003593	Infantile onset	8526	DGKE	OMIM:615008
HP:0003593	Infantile onset	1161	ERCC8	OMIM:216400
HP:0003593	Infantile onset	1161	ERCC8	OMIM:614621
HP:0003593	Infantile onset	79158	GNPTAB	OMIM:252500
HP:0003593	Infantile onset	79693	YRDC	OMIM:619609
HP:0003593	Infantile onset	4625	MYH7	OMIM:160500
HP:0003593	Infantile onset	4625	MYH7	OMIM:613426
HP:0003593	Infantile onset	284403	WDR62	OMIM:604317
HP:0003593	Infantile onset	7054	TH	OMIM:605407
HP:0003593	Infantile onset	2212	FCGR2A	OMIM:219700
HP:0003593	Infantile onset	7040	TGFB1	OMIM:219700
HP:0003593	Infantile onset	1080	CFTR	OMIM:219700
HP:0003593	Infantile onset	1896	EDA	OMIM:305100
HP:0003593	Infantile onset	54345	SOX18	OMIM:607823
HP:0003593	Infantile onset	54345	SOX18	OMIM:137940
HP:0003593	Infantile onset	55687	TRMU	OMIM:613070
HP:0003593	Infantile onset	4318	MMP9	OMIM:613073
HP:0003593	Infantile onset	23321	TRIM2	OMIM:615490
HP:0003593	Infantile onset	818	CAMK2G	OMIM:618522
HP:0003593	Infantile onset	5832	ALDH18A1	OMIM:616586
HP:0003593	Infantile onset	5832	ALDH18A1	OMIM:219150
HP:0003593	Infantile onset	54453	RIN2	OMIM:613075
HP:0003593	Infantile onset	5105	PCK1	OMIM:261680
HP:0003593	Infantile onset	6884	TAF13	OMIM:617432
HP:0003593	Infantile onset	103	ADAR	OMIM:615010
HP:0003593	Infantile onset	103	ADAR	OMIM:127400
HP:0003593	Infantile onset	7343	UBTF	OMIM:617672
HP:0003593	Infantile onset	6844	VAMP2	OMIM:618760
HP:0003593	Infantile onset	79029	AFG2B	OMIM:619616
HP:0003593	Infantile onset	64834	ELOVL1	OMIM:618527
HP:0003593	Infantile onset	7852	CXCR4	OMIM:193670
HP:0003593	Infantile onset	11232	POLG2	OMIM:618528
HP:0003593	Infantile onset	1759	DNM1	OMIM:616346
HP:0003593	Infantile onset	1759	DNM1	OMIM:620352
HP:0003593	Infantile onset	3064	HTT	OMIM:617435
HP:0003593	Infantile onset	7436	VLDLR	OMIM:224050
HP:0003593	Infantile onset	3614	IMPDH1	OMIM:180105
HP:0003593	Infantile onset	90167	FRMD7	OMIM:310700
HP:0003593	Infantile onset	1716	DGUOK	OMIM:251880
HP:0003593	Infantile onset	1105	CHD1	OMIM:617682
HP:0003593	Infantile onset	5297	PI4KA	OMIM:619621
HP:0003593	Infantile onset	5297	PI4KA	OMIM:619708
HP:0003593	Infantile onset	8789	FBP2	OMIM:619864
HP:0003593	Infantile onset	57231	SNX14	OMIM:616354
HP:0003593	Infantile onset	23327	NEDD4L	OMIM:617201
HP:0003593	Infantile onset	5073	PARN	OMIM:616353
HP:0003593	Infantile onset	3340	NDST1	OMIM:616116
HP:0003593	Infantile onset	58484	NLRC4	OMIM:616115
HP:0003593	Infantile onset	284184	NDUFAF8	OMIM:618776
HP:0003593	Infantile onset	6905	TBCE	OMIM:617207
HP:0003593	Infantile onset	4645	MYO5B	OMIM:619868
HP:0003593	Infantile onset	4247	MGAT2	OMIM:212066
HP:0003593	Infantile onset	5373	PMM2	OMIM:212065
HP:0003593	Infantile onset	167691	LCA5	OMIM:604537
HP:0003593	Infantile onset	113612	CYP2U1	OMIM:615030
HP:0003593	Infantile onset	30009	TBX21	OMIM:619630
HP:0003593	Infantile onset	55768	NGLY1	OMIM:615273
HP:0003593	Infantile onset	26038	CHD5	OMIM:619873
HP:0003593	Infantile onset	5034	P4HB	OMIM:112240
HP:0003593	Infantile onset	8482	SEMA7A	OMIM:619874
HP:0003593	Infantile onset	55621	TRMT1	OMIM:618302
HP:0003593	Infantile onset	3737	KCNA2	OMIM:616366
HP:0003593	Infantile onset	23126	POGZ	OMIM:616364
HP:0003593	Infantile onset	55773	TBC1D23	OMIM:617695
HP:0003593	Infantile onset	57680	CHD8	OMIM:615032
HP:0003593	Infantile onset	5314	PKHD1	OMIM:263200
HP:0003593	Infantile onset	3769	KCNJ13	OMIM:614186
HP:0003593	Infantile onset	5593	PRKG2	OMIM:619638
HP:0003593	Infantile onset	55280	CWF19L1	OMIM:616127
HP:0003593	Infantile onset	92609	TIMM50	OMIM:617698
HP:0003593	Infantile onset	51692	CPSF3	OMIM:619876
HP:0003593	Infantile onset	116115	ZNF526	OMIM:619877
HP:0003593	Infantile onset	7173	TPO	OMIM:274500
HP:0003593	Infantile onset	111	ADCY5	OMIM:606703
HP:0003593	Infantile onset	111	ADCY5	OMIM:619651
HP:0003593	Infantile onset	3507	IGHM	OMIM:601495
HP:0003593	Infantile onset	5605	MAP2K2	OMIM:615280
HP:0003593	Infantile onset	5244	ABCB4	OMIM:602347
HP:0003593	Infantile onset	54828	BCAS3	OMIM:619641
HP:0003593	Infantile onset	9276	COPB2	OMIM:619884
HP:0003593	Infantile onset	1615	DARS1	OMIM:615281
HP:0003593	Infantile onset	122961	ISCA2	OMIM:616370
HP:0003593	Infantile onset	8989	TRPA1	OMIM:615040
HP:0003593	Infantile onset	57169	ZNFX1	OMIM:619644
HP:0003593	Infantile onset	6329	SCN4A	OMIM:614198
HP:0003593	Infantile onset	6329	SCN4A	OMIM:170500
HP:0003593	Infantile onset	6329	SCN4A	OMIM:170400
HP:0003593	Infantile onset	6329	SCN4A	OMIM:168300
HP:0003593	Infantile onset	56098	PCDHGC4	OMIM:619880
HP:0003593	Infantile onset	11311	VPS45	OMIM:615285
HP:0003593	Infantile onset	10991	SLC38A3	OMIM:619881
HP:0003593	Infantile onset	27068	PPA2	OMIM:617222
HP:0003593	Infantile onset	113179	ADAT3	OMIM:615286
HP:0003593	Infantile onset	1742	DLG4	OMIM:618793
HP:0003593	Infantile onset	2904	GRIN2B	OMIM:616139
HP:0003593	Infantile onset	4285	MIPEP	OMIM:617228
HP:0003593	Infantile onset	641	BLM	OMIM:210900
HP:0003593	Infantile onset	476	ATP1A1	OMIM:618314
HP:0003593	Infantile onset	10531	PITRM1	OMIM:619405
HP:0003593	Infantile onset	79971	WLS	OMIM:619648
HP:0003593	Infantile onset	6901	TAFAZZIN	OMIM:302060
HP:0003593	Infantile onset	56652	TWNK	OMIM:271245
HP:0003593	Infantile onset	7139	TNNT2	OMIM:601494
HP:0003593	Infantile onset	57609	DIP2B	OMIM:136630
HP:0003593	Infantile onset	4488	MSX2	OMIM:604757
HP:0003593	Infantile onset	3861	KRT14	OMIM:601001
HP:0003593	Infantile onset	3861	KRT14	OMIM:131900
HP:0003593	Infantile onset	23299	BICD2	OMIM:615290
HP:0003593	Infantile onset	4351	MPI	OMIM:602579
HP:0003593	Infantile onset	92749	DRC1	OMIM:615294
HP:0003593	Infantile onset	55739	NAXD	OMIM:618321
HP:0003593	Infantile onset	5354	PLP1	OMIM:312080
HP:0003593	Infantile onset	5354	PLP1	OMIM:312920
HP:0003593	Infantile onset	7143	TNR	OMIM:619653
HP:0003593	Infantile onset	6843	VAMP1	OMIM:618323
HP:0003593	Infantile onset	5917	RARS1	OMIM:616140
HP:0003593	Infantile onset	3423	IDS	OMIM:309900
HP:0003593	Infantile onset	125988	MICOS13	OMIM:618329
HP:0003593	Infantile onset	8565	YARS1	OMIM:619418
HP:0003593	Infantile onset	6572	SLC18A3	OMIM:617239
HP:0003593	Infantile onset	2260	FGFR1	OMIM:166250
HP:0003593	Infantile onset	5741	PTH	OMIM:146200
HP:0003593	Infantile onset	2720	GLB1	OMIM:230500
HP:0003593	Infantile onset	23499	MACF1	OMIM:618325
HP:0003593	Infantile onset	54532	USP53	OMIM:619658
HP:0003593	Infantile onset	6533	SLC6A6	OMIM:145350
HP:0003593	Infantile onset	3339	HSPG2	OMIM:255800
HP:0003593	Infantile onset	6476	SI	OMIM:222900
HP:0003593	Infantile onset	10533	ATG7	OMIM:619422
HP:0003593	Infantile onset	9742	IFT140	OMIM:266920
HP:0003593	Infantile onset	205327	C2orf69	OMIM:619423
HP:0003593	Infantile onset	1523	CUX1	OMIM:618330
HP:0003593	Infantile onset	55151	TMEM38B	OMIM:615066
HP:0003593	Infantile onset	51693	TRAPPC2L	OMIM:618331
HP:0003593	Infantile onset	113220	KIF12	OMIM:619662
HP:0003593	Infantile onset	120	ADD3	OMIM:617008
HP:0003593	Infantile onset	3000	GUCY2D	OMIM:204000
HP:0003593	Infantile onset	7535	ZAP70	OMIM:617006
HP:0003593	Infantile onset	7535	ZAP70	OMIM:269840
HP:0003593	Infantile onset	2583	B4GALNT1	OMIM:609195
HP:0003593	Infantile onset	5813	PURA	OMIM:616158
HP:0003593	Infantile onset	5426	POLE	OMIM:618336
HP:0003593	Infantile onset	1642	DDB1	OMIM:619426
HP:0003593	Infantile onset	2744	GLS	OMIM:618339
HP:0003593	Infantile onset	3242	HPD	OMIM:276710
HP:0003593	Infantile onset	3242	HPD	OMIM:140350
HP:0003593	Infantile onset	389827	MYMK	OMIM:254940
HP:0003593	Infantile onset	7273	TTN	OMIM:611705
HP:0003593	Infantile onset	8322	FZD4	OMIM:133780
HP:0003593	Infantile onset	4041	LRP5	OMIM:133780
HP:0003593	Infantile onset	4041	LRP5	OMIM:259770
HP:0003593	Infantile onset	4041	LRP5	OMIM:601813
HP:0003593	Infantile onset	9949	AMMECR1	OMIM:300990
HP:0003593	Infantile onset	2074	ERCC6	OMIM:133540
HP:0003593	Infantile onset	2074	ERCC6	OMIM:600630
HP:0003593	Infantile onset	57459	GATAD2B	OMIM:615074
HP:0003593	Infantile onset	695	BTK	OMIM:300755
HP:0003593	Infantile onset	2243	FGA	OMIM:202400
HP:0003593	Infantile onset	2244	FGB	OMIM:202400
HP:0003593	Infantile onset	2266	FGG	OMIM:202400
HP:0003593	Infantile onset	1499	CTNNB1	OMIM:615075
HP:0003593	Infantile onset	1291	COL6A1	OMIM:254090
HP:0003593	Infantile onset	1292	COL6A2	OMIM:254090
HP:0003593	Infantile onset	1293	COL6A3	OMIM:254090
HP:0003593	Infantile onset	84894	LINGO1	OMIM:618103
HP:0003593	Infantile onset	7053	TGM3	OMIM:617251
HP:0003593	Infantile onset	1441	CSF3R	OMIM:617014
HP:0003593	Infantile onset	23516	SLC39A14	OMIM:617013
HP:0003593	Infantile onset	160418	TMTC3	OMIM:617255
HP:0003593	Infantile onset	2187	FANCB	OMIM:300514
HP:0003593	Infantile onset	54517	PUS7	OMIM:618342
HP:0003593	Infantile onset	10765	KDM5B	OMIM:618109
HP:0003593	Infantile onset	10564	ARFGEF2	OMIM:608097
HP:0003593	Infantile onset	79912	PYROXD1	OMIM:617258
HP:0003593	Infantile onset	10785	WDR4	OMIM:618347
HP:0003593	Infantile onset	4967	OGDH	OMIM:203740
HP:0003593	Infantile onset	1798	DPAGT1	OMIM:608093
HP:0003593	Infantile onset	1798	DPAGT1	OMIM:614750
HP:0003593	Infantile onset	6418	SET	OMIM:618106
HP:0003593	Infantile onset	3081	HGD	OMIM:203500
HP:0003593	Infantile onset	9526	MPDU1	OMIM:609180
HP:0003593	Infantile onset	8737	RIPK1	OMIM:618108
HP:0003593	Infantile onset	4703	NEB	OMIM:256030
HP:0003593	Infantile onset	959	CD40LG	OMIM:308230
HP:0003593	Infantile onset	1120	CHKB	OMIM:602541
HP:0003593	Infantile onset	2706	GJB2	OMIM:602540
HP:0003593	Infantile onset	5575	PRKAR1B	OMIM:619680
HP:0003593	Infantile onset	29887	SNX10	OMIM:615085
HP:0003593	Infantile onset	5515	PPP2CA	OMIM:618354
HP:0003593	Infantile onset	1294	COL7A1	OMIM:226600
HP:0003593	Infantile onset	4312	MMP1	OMIM:226600
HP:0003593	Infantile onset	64801	ARV1	OMIM:617020
HP:0003593	Infantile onset	6647	SOD1	OMIM:618598
HP:0003593	Infantile onset	6096	RORB	OMIM:618357
HP:0003593	Infantile onset	112755	STX1B	OMIM:616172
HP:0003593	Infantile onset	116461	TSEN15	OMIM:617026
HP:0003593	Infantile onset	51163	DBR1	OMIM:619441
HP:0003593	Infantile onset	5568	PRKACG	OMIM:616176
HP:0003593	Infantile onset	23043	TNIK	OMIM:617028
HP:0003593	Infantile onset	8912	CACNA1H	OMIM:617027
HP:0003593	Infantile onset	64065	PERP	OMIM:619208
HP:0003593	Infantile onset	5660	PSAP	OMIM:611722
HP:0003593	Infantile onset	154881	KCTD7	OMIM:611726
HP:0003593	Infantile onset	57190	SELENON	OMIM:602771
HP:0003593	Infantile onset	79709	COLGALT1	OMIM:618360
HP:0003593	Infantile onset	55777	MBD5	OMIM:156200
HP:0003593	Infantile onset	55250	ELP2	OMIM:617270
HP:0003593	Infantile onset	51132	RLIM	OMIM:300978
HP:0003593	Infantile onset	10588	MTHFS	OMIM:618367
HP:0003593	Infantile onset	51434	ANAPC7	OMIM:619699
HP:0003593	Infantile onset	537	ATP6AP1	OMIM:300972
HP:0003593	Infantile onset	24140	FTSJ1	OMIM:309549
HP:0003593	Infantile onset	7922	SLC39A7	OMIM:619693
HP:0003593	Infantile onset	6601	SMARCC2	OMIM:618362
HP:0003593	Infantile onset	4052	LTBP1	OMIM:619451
HP:0003593	Infantile onset	92255	LMBRD2	OMIM:619694
HP:0003593	Infantile onset	7468	NSD2	OMIM:619695
HP:0003593	Infantile onset	8120	AP3B2	OMIM:617276
HP:0003593	Infantile onset	267010	RNU12	OMIM:620208
HP:0003593	Infantile onset	3054	HCFC1	OMIM:309541
HP:0003593	Infantile onset	819	CAMLG	OMIM:620201
HP:0003593	Infantile onset	4647	MYO7A	OMIM:276900
HP:0003593	Infantile onset	10083	USH1C	OMIM:276900
HP:0003593	Infantile onset	51608	GET4	OMIM:620200
HP:0003593	Infantile onset	549	AUH	OMIM:250950
HP:0003593	Infantile onset	3735	KARS1	OMIM:613916
HP:0003593	Infantile onset	56776	FMN2	OMIM:616193
HP:0003593	Infantile onset	2068	ERCC2	OMIM:601675
HP:0003593	Infantile onset	2064	ERBB2	OMIM:619465
HP:0003593	Infantile onset	6390	SDHB	OMIM:619224
HP:0003593	Infantile onset	84892	POMGNT2	OMIM:618135
HP:0003593	Infantile onset	55630	SLC39A4	OMIM:201100
HP:0003593	Infantile onset	254428	SLC41A1	OMIM:619468
HP:0003593	Infantile onset	9758	FRMPD4	OMIM:300983
HP:0003593	Infantile onset	7174	TPP2	OMIM:619220
HP:0003593	Infantile onset	23328	SASH1	OMIM:618373
HP:0003593	Infantile onset	23328	SASH1	OMIM:127500
HP:0003593	Infantile onset	146206	CARMIL2	OMIM:618131
HP:0003593	Infantile onset	4761	NEUROD2	OMIM:618374
HP:0003593	Infantile onset	3188	HNRNPH2	OMIM:300986
HP:0003593	Infantile onset	84705	GTPBP3	OMIM:616198
HP:0003593	Infantile onset	9971	NR1H4	OMIM:617049
HP:0003593	Infantile onset	208	AKT2	OMIM:240900
HP:0003593	Infantile onset	59341	TRPV4	OMIM:168400
HP:0003593	Infantile onset	59341	TRPV4	OMIM:184252
HP:0003593	Infantile onset	220296	HEPACAM	OMIM:613925
HP:0003593	Infantile onset	220296	HEPACAM	OMIM:613926
HP:0003593	Infantile onset	220296	HEPACAM	OMIM:604004
HP:0003593	Infantile onset	4548	MTR	OMIM:250940
HP:0003593	Infantile onset	55186	SLC25A36	OMIM:620211
HP:0003593	Infantile onset	9294	S1PR2	OMIM:610419
HP:0003593	Infantile onset	83480	PUS3	OMIM:617051
HP:0003593	Infantile onset	11212	PLPBP	OMIM:617290
HP:0003593	Infantile onset	55975	KLHL7	OMIM:617055
HP:0003593	Infantile onset	57498	KIDINS220	OMIM:617296
HP:0003593	Infantile onset	54809	SAMD9	OMIM:617053
HP:0003593	Infantile onset	8991	SELENBP1	OMIM:618148
HP:0003593	Infantile onset	23316	CUX2	OMIM:618141
HP:0003593	Infantile onset	100996717	NOTCH2NLC	OMIM:619473
HP:0003593	Infantile onset	570	BAAT	OMIM:619232
HP:0003593	Infantile onset	94005	PIGS	OMIM:618143
HP:0003593	Infantile onset	83706	FERMT3	OMIM:612840
HP:0003593	Infantile onset	8452	CUL3	OMIM:619239
HP:0003593	Infantile onset	9968	MED12	OMIM:309520
HP:0003593	Infantile onset	2218	FKTN	OMIM:253800
HP:0003593	Infantile onset	2218	FKTN	OMIM:611588
HP:0003593	Infantile onset	2218	FKTN	OMIM:613152
HP:0003593	Infantile onset	286	ANK1	OMIM:182900
HP:0003593	Infantile onset	11198	SUPT16H	OMIM:619480
HP:0003593	Infantile onset	8720	MBTPS1	OMIM:618392
HP:0003593	Infantile onset	1457	CSNK2A1	OMIM:617062
HP:0003593	Infantile onset	7204	TRIO	OMIM:617061
HP:0003593	Infantile onset	7204	TRIO	OMIM:618825
HP:0003593	Infantile onset	5058	PAK1	OMIM:618158
HP:0003593	Infantile onset	200931	SLC51A	OMIM:619484
HP:0003593	Infantile onset	2566	GABRG2	OMIM:618396
HP:0003593	Infantile onset	1654	DDX3X	OMIM:300958
HP:0003593	Infantile onset	3419	IDH3A	OMIM:619007
HP:0003593	Infantile onset	54977	SLC25A38	OMIM:205950
HP:0003593	Infantile onset	23096	IQSEC2	OMIM:309530
HP:0003593	Infantile onset	91662	NLRP12	OMIM:611762
HP:0003593	Infantile onset	1277	COL1A1	OMIM:166200
HP:0003593	Infantile onset	7284	TUFM	OMIM:610678
HP:0003593	Infantile onset	2799	GNS	OMIM:252940
HP:0003593	Infantile onset	10551	AGR2	OMIM:620233
HP:0003593	Infantile onset	3921	RPSA	OMIM:271400
HP:0003593	Infantile onset	26278	SACS	OMIM:270550
HP:0003593	Infantile onset	50964	SOST	OMIM:122860
HP:0003593	Infantile onset	55599	RNPC3	OMIM:618160
HP:0003593	Infantile onset	80267	EDEM3	OMIM:619493
HP:0003593	Infantile onset	5805	PTS	OMIM:261640
HP:0003593	Infantile onset	84231	TRAF7	OMIM:618164
HP:0003593	Infantile onset	63899	NSUN3	OMIM:619012
HP:0003593	Infantile onset	7157	TP53	OMIM:618165
HP:0003593	Infantile onset	1315	COPB1	OMIM:619255
HP:0003593	Infantile onset	26276	VPS33B	OMIM:620009
HP:0003593	Infantile onset	26276	VPS33B	OMIM:620010
HP:0003593	Infantile onset	8831	SYNGAP1	OMIM:612621
HP:0003593	Infantile onset	203190	LGI3	OMIM:620007
HP:0003593	Infantile onset	11043	MID2	OMIM:300928
HP:0003593	Infantile onset	779	CACNA1S	OMIM:620246
HP:0003593	Infantile onset	779	CACNA1S	OMIM:170400
HP:0003593	Infantile onset	11277	TREX1	OMIM:610448
HP:0003593	Infantile onset	81615	TMEM163	OMIM:620243
HP:0003593	Infantile onset	84081	NSRP1	OMIM:620001
HP:0003593	Infantile onset	10079	ATP9A	OMIM:620242
HP:0003593	Infantile onset	3858	KRT10	OMIM:146600
HP:0003593	Infantile onset	4644	MYO5A	OMIM:214450
HP:0003593	Infantile onset	5903	RANBP2	OMIM:608033
HP:0003593	Infantile onset	2801	GOLGA2	OMIM:620240
HP:0003593	Infantile onset	6334	SCN8A	OMIM:617080
HP:0003593	Infantile onset	6334	SCN8A	OMIM:614558
HP:0003593	Infantile onset	64802	NMNAT1	OMIM:619260
HP:0003593	Infantile onset	64802	NMNAT1	OMIM:608553
HP:0003593	Infantile onset	50617	ATP6V0A4	OMIM:602722
HP:0003593	Infantile onset	2296	FOXC1	OMIM:601631
HP:0003593	Infantile onset	2629	GBA1	OMIM:230900
HP:0003593	Infantile onset	64432	MRPS25	OMIM:619025
HP:0003593	Infantile onset	1893	ECM1	OMIM:247100
HP:0003593	Infantile onset	84842	HPDL	OMIM:619026
HP:0003593	Infantile onset	5860	QDPR	OMIM:261630
HP:0003593	Infantile onset	375056	MIA3	OMIM:619269
HP:0003593	Infantile onset	56947	MFF	OMIM:617086
HP:0003593	Infantile onset	118429	ANTXR2	OMIM:228600
HP:0003593	Infantile onset	1496	CTNNA2	OMIM:618174
HP:0003593	Infantile onset	83550	GPR101	OMIM:300942
HP:0003593	Infantile onset	6326	SCN2A	OMIM:613721
HP:0003593	Infantile onset	6326	SCN2A	OMIM:607745
HP:0003593	Infantile onset	3785	KCNQ2	OMIM:613720
HP:0003593	Infantile onset	23236	PLCB1	OMIM:613722
HP:0003593	Infantile onset	27445	PCLO	OMIM:608027
HP:0003593	Infantile onset	5256	PHKA2	OMIM:306000
HP:0003593	Infantile onset	5696	PSMB8	OMIM:256040
HP:0003593	Infantile onset	6235	RPS29	OMIM:615909
HP:0003593	Infantile onset	2760	GM2A	OMIM:272750
HP:0003593	Infantile onset	4693	NDP	OMIM:305390
HP:0003593	Infantile onset	4693	NDP	OMIM:310600
HP:0003593	Infantile onset	5138	PDE2A	OMIM:619150
HP:0003593	Infantile onset	64374	SIL1	OMIM:248800
HP:0003593	Infantile onset	6535	SLC6A8	OMIM:300352
HP:0003593	Infantile onset	26960	NBEA	OMIM:619157
HP:0003593	Infantile onset	1183	CLCN4	OMIM:300114
HP:0003593	Infantile onset	9722	NOS1AP	OMIM:619155
HP:0003593	Infantile onset	27178	IL37	OMIM:619398
HP:0003593	Infantile onset	23241	PACS2	OMIM:618067
HP:0003593	Infantile onset	80308	FLAD1	OMIM:255100
HP:0003593	Infantile onset	10312	TCIRG1	OMIM:259700
HP:0003593	Infantile onset	4598	MVK	OMIM:260920
HP:0003593	Infantile onset	4598	MVK	OMIM:610377
HP:0003593	Infantile onset	5009	OTC	OMIM:311250
HP:0003593	Infantile onset	25821	MTO1	OMIM:614702
HP:0003593	Infantile onset	781	CACNA2D1	OMIM:620149
HP:0003593	Infantile onset	857	CAV1	OMIM:612526
HP:0003593	Infantile onset	6165	RPL35A	OMIM:612528
HP:0003593	Infantile onset	51343	FZR1	OMIM:620145
HP:0003593	Infantile onset	2542	SLC37A4	OMIM:232220
HP:0003593	Infantile onset	2542	SLC37A4	OMIM:619525
HP:0003593	Infantile onset	10093	ARPC4	OMIM:620141
HP:0003593	Infantile onset	146167	SLC38A8	OMIM:609218
HP:0003593	Infantile onset	2623	GATA1	OMIM:300367
HP:0003593	Infantile onset	2623	GATA1	OMIM:300835
HP:0003593	Infantile onset	23149	FCHO1	OMIM:619164
HP:0003593	Infantile onset	51506	UFC1	OMIM:618076
HP:0003593	Infantile onset	1376	CPT2	OMIM:600649
HP:0003593	Infantile onset	644096	SDHAF1	OMIM:619166
HP:0003593	Infantile onset	6392	SDHD	OMIM:619167
HP:0003593	Infantile onset	55788	LMBRD1	OMIM:277380
HP:0003593	Infantile onset	80055	PGAP1	OMIM:615802
HP:0003593	Infantile onset	57582	KCNT1	OMIM:614959
HP:0003593	Infantile onset	10978	CLP1	OMIM:615803
HP:0003593	Infantile onset	1410	CRYAB	OMIM:613869
HP:0003593	Infantile onset	271	AMPD2	OMIM:615809
HP:0003593	Infantile onset	771	CA12	OMIM:143860
HP:0003593	Infantile onset	58528	RRAGD	OMIM:620152
HP:0003593	Infantile onset	6197	RPS6KA3	OMIM:303600
HP:0003593	Infantile onset	4718	NDUFC2	OMIM:619170
HP:0003593	Infantile onset	4001	LMNB1	OMIM:619179
HP:0003593	Infantile onset	8913	CACNA1G	OMIM:618087
HP:0003593	Infantile onset	3766	KCNJ10	OMIM:612780
HP:0003593	Infantile onset	64207	IRF2BPL	OMIM:618088
HP:0003593	Infantile onset	146862	UNC45B	OMIM:619178
HP:0003593	Infantile onset	1272	CNTN1	OMIM:612540
HP:0003593	Infantile onset	5119	CHMP1A	OMIM:614961
HP:0003593	Infantile onset	3988	LIPA	OMIM:278000
HP:0003593	Infantile onset	966	CD59	OMIM:612300
HP:0003593	Infantile onset	2538	G6PC1	OMIM:232200
HP:0003593	Infantile onset	8792	TNFRSF11A	OMIM:612301
HP:0003593	Infantile onset	3953	LEPR	OMIM:614963
HP:0003593	Infantile onset	5624	PROC	OMIM:612304
HP:0003593	Infantile onset	26504	CNNM4	OMIM:217080
HP:0003593	Infantile onset	3778	KCNMA1	OMIM:609446
HP:0003593	Infantile onset	3778	KCNMA1	OMIM:618729
HP:0003593	Infantile onset	3778	KCNMA1	OMIM:617643
HP:0003593	Infantile onset	23325	WASHC4	OMIM:615817
HP:0003593	Infantile onset	9570	GOSR2	OMIM:620166
HP:0003593	Infantile onset	64087	MCCC2	OMIM:210210
HP:0003593	Infantile onset	54675	CRLS1	OMIM:620167
HP:0003593	Infantile onset	56984	PSMG2	OMIM:619183
HP:0003593	Infantile onset	815	CAMK2A	OMIM:618095
HP:0003593	Infantile onset	815	CAMK2A	OMIM:617798
HP:0003593	Infantile onset	23116	TOGARAM1	OMIM:619185
HP:0003593	Infantile onset	64919	BCL11B	OMIM:618092
HP:0003593	Infantile onset	6389	SDHA	OMIM:613642
HP:0003593	Infantile onset	6389	SDHA	OMIM:252011
HP:0003593	Infantile onset	1591	CYP24A1	OMIM:143880
HP:0003593	Infantile onset	4915	NTRK2	OMIM:613886
HP:0003593	Infantile onset	23314	SATB2	OMIM:612313
HP:0003593	Infantile onset	56922	MCCC1	OMIM:210200
HP:0003593	Infantile onset	113235	SLC46A1	OMIM:229050
HP:0003593	Infantile onset	11160	ERLIN2	OMIM:611225
HP:0003593	Infantile onset	51293	CD320	OMIM:613646
HP:0003593	Infantile onset	54872	PIGG	OMIM:616917
HP:0003593	Infantile onset	25942	SIN3A	OMIM:613406
HP:0003593	Infantile onset	79053	ALG8	OMIM:608104
HP:0003593	Infantile onset	10522	DEAF1	OMIM:615828
HP:0003593	Infantile onset	10522	DEAF1	OMIM:617171
HP:0003593	Infantile onset	9907	AP5Z1	OMIM:613647
HP:0003593	Infantile onset	57465	TBC1D24	OMIM:608105
HP:0003593	Infantile onset	57465	TBC1D24	OMIM:605021
HP:0003593	Infantile onset	57465	TBC1D24	OMIM:615338
HP:0003593	Infantile onset	113278	SLC52A3	OMIM:211530
HP:0003593	Infantile onset	30011	SH3KBP1	OMIM:300310
HP:0003593	Infantile onset	26053	AUTS2	OMIM:615834
HP:0003593	Infantile onset	10846	PDE10A	OMIM:616921
HP:0003593	Infantile onset	3588	IL10RB	OMIM:612567
HP:0003593	Infantile onset	90624	LYRM7	OMIM:615838
HP:0003593	Infantile onset	1650	DDOST	OMIM:614507
HP:0003593	Infantile onset	5888	RAD51	OMIM:614508
HP:0003593	Infantile onset	10056	FARSB	OMIM:613658
HP:0003593	Infantile onset	5428	POLG	OMIM:203700
HP:0003593	Infantile onset	5428	POLG	OMIM:613662
HP:0003593	Infantile onset	3675	ITGA3	OMIM:614748
HP:0003593	Infantile onset	80025	PANK2	OMIM:234200
HP:0003593	Infantile onset	55719	SLF2	OMIM:620184
HP:0003593	Infantile onset	79759	ZNF668	OMIM:620194
HP:0003593	Infantile onset	283209	PGM2L1	OMIM:620191
HP:0003593	Infantile onset	1737	DLAT	OMIM:245348
HP:0003593	Infantile onset	492	ATP2B3	OMIM:302500
HP:0003593	Infantile onset	3251	HPRT1	OMIM:300322
HP:0003593	Infantile onset	1785	DNM2	OMIM:160150
HP:0003593	Infantile onset	64419	MTMR14	OMIM:160150
HP:0003593	Infantile onset	440138	ALG11	OMIM:613661
HP:0003593	Infantile onset	23261	CAMTA1	OMIM:614756
HP:0003593	Infantile onset	56623	INPP5E	OMIM:610156
HP:0003593	Infantile onset	64135	IFIH1	OMIM:615846
HP:0003593	Infantile onset	64135	IFIH1	OMIM:619773
HP:0003593	Infantile onset	64135	IFIH1	OMIM:182250
HP:0003593	Infantile onset	182	JAG1	OMIM:118450
HP:0003593	Infantile onset	5340	PLG	OMIM:217090
HP:0003593	Infantile onset	3708	ITPR1	OMIM:117360
HP:0003593	Infantile onset	3708	ITPR1	OMIM:206700
HP:0003593	Infantile onset	10472	ZBTB18	OMIM:612337
HP:0003593	Infantile onset	9440	MED17	OMIM:613668
HP:0003593	Infantile onset	917	CD3G	OMIM:615607
HP:0003593	Infantile onset	1962	EHHADH	OMIM:615605
HP:0003593	Infantile onset	84946	LTV1	OMIM:620199
HP:0003593	Infantile onset	286676	ILDR1	OMIM:609646
HP:0003593	Infantile onset	8813	DPM1	OMIM:608799
HP:0003593	Infantile onset	554	AVPR2	OMIM:300539
HP:0003593	Infantile onset	1186	CLCN7	OMIM:611490
HP:0003593	Infantile onset	55084	SOBP	OMIM:613671
HP:0003593	Infantile onset	27086	FOXP1	OMIM:613670
HP:0003593	Infantile onset	919	CD247	OMIM:610163
HP:0003593	Infantile onset	6929	TCF3	OMIM:616941
HP:0003593	Infantile onset	6929	TCF3	OMIM:619824
HP:0003593	Infantile onset	55149	MTPAP	OMIM:613672
HP:0003593	Infantile onset	55275	VPS53	OMIM:615851
HP:0003593	Infantile onset	916	CD3E	OMIM:615615
HP:0003593	Infantile onset	79718	TBL1XR1	OMIM:616944
HP:0003593	Infantile onset	445	ASS1	OMIM:215700
HP:0003593	Infantile onset	51322	WAC	OMIM:616708
HP:0003593	Infantile onset	57679	ALS2	OMIM:607225
HP:0003593	Infantile onset	915	CD3D	OMIM:615617
HP:0003593	Infantile onset	85440	DOCK7	OMIM:615859
HP:0003593	Infantile onset	28962	OSTM1	OMIM:259720
HP:0003593	Infantile onset	54463	RETREG1	OMIM:201300
HP:0003593	Infantile onset	65125	WNK1	OMIM:201300
HP:0003593	Infantile onset	6335	SCN9A	OMIM:201300
HP:0003593	Infantile onset	547	KIF1A	OMIM:201300
HP:0003593	Infantile onset	79228	THOC6	OMIM:613680
HP:0003593	Infantile onset	2033	EP300	OMIM:613684
HP:0003593	Infantile onset	2033	EP300	OMIM:180849
HP:0003593	Infantile onset	5962	RDX	OMIM:611022
HP:0003593	Infantile onset	4208	MEF2C	OMIM:613443
HP:0003593	Infantile onset	22907	DHX30	OMIM:617804
HP:0003593	Infantile onset	3679	ITGA7	OMIM:613204
HP:0003593	Infantile onset	7407	VARS1	OMIM:617802
HP:0003593	Infantile onset	9894	TELO2	OMIM:616954
HP:0003593	Infantile onset	4000	LMNA	OMIM:613205
HP:0003593	Infantile onset	196528	ARID2	OMIM:617808
HP:0003593	Infantile onset	57410	SCYL1	OMIM:616719
HP:0003593	Infantile onset	9230	RAB11B	OMIM:617807
HP:0003593	Infantile onset	3798	KIF5A	OMIM:604187
HP:0003593	Infantile onset	4976	OPA1	OMIM:210000
HP:0003593	Infantile onset	55703	POLR3B	OMIM:607694
HP:0003593	Infantile onset	55703	POLR3B	OMIM:619742
HP:0003593	Infantile onset	11128	POLR3A	OMIM:607694
HP:0003593	Infantile onset	8600	TNFSF11	OMIM:259710
HP:0003593	Infantile onset	10075	HUWE1	OMIM:309590
HP:0003593	Infantile onset	10159	ATP6AP2	OMIM:301045
HP:0003593	Infantile onset	10159	ATP6AP2	OMIM:300423
HP:0003593	Infantile onset	6323	SCN1A	OMIM:607208
HP:0003593	Infantile onset	6323	SCN1A	OMIM:619317
HP:0003593	Infantile onset	348980	HCN1	OMIM:615871
HP:0003593	Infantile onset	124997	WDR81	OMIM:610185
HP:0003593	Infantile onset	8733	GPAA1	OMIM:617810
HP:0003593	Infantile onset	79092	CARD14	OMIM:173200
HP:0003593	Infantile onset	132	ADK	OMIM:614300
HP:0003593	Infantile onset	23394	ADNP	OMIM:615873
HP:0003593	Infantile onset	6513	SLC2A1	OMIM:612126
HP:0003593	Infantile onset	6513	SLC2A1	OMIM:606777
HP:0003593	Infantile onset	6513	SLC2A1	OMIM:608885
HP:0003593	Infantile onset	9414	TJP2	OMIM:615878
HP:0003593	Infantile onset	4072	EPCAM	OMIM:613217
HP:0003593	Infantile onset	6948	TCN2	OMIM:275350
HP:0003593	Infantile onset	89970	RSPRY1	OMIM:616723
HP:0003593	Infantile onset	50943	FOXP3	OMIM:304790
HP:0003593	Infantile onset	8763	CD164	OMIM:616969
HP:0003593	Infantile onset	79650	USB1	OMIM:604173
HP:0003593	Infantile onset	2258	FGF13	OMIM:301058
HP:0003593	Infantile onset	91147	TMEM67	OMIM:216360
HP:0003593	Infantile onset	9150	CTDP1	OMIM:604168
HP:0003593	Infantile onset	3718	JAK3	OMIM:600802
HP:0003593	Infantile onset	3074	HEXB	OMIM:268800
HP:0003593	Infantile onset	5160	PDHA1	OMIM:312170
HP:0003593	Infantile onset	473	RERE	OMIM:616975
HP:0003593	Infantile onset	11151	CORO1A	OMIM:615401
HP:0003593	Infantile onset	6144	RPL21	OMIM:615885
HP:0003593	Infantile onset	1806	DPYD	OMIM:274270
HP:0003593	Infantile onset	4792	NFKBIA	OMIM:612132
HP:0003593	Infantile onset	2902	GRIN1	OMIM:617820
HP:0003593	Infantile onset	2902	GRIN1	OMIM:614254
HP:0003593	Infantile onset	2782	GNB1	OMIM:616973
HP:0003593	Infantile onset	1545	CYP1B1	OMIM:231300
HP:0003593	Infantile onset	79644	SRD5A3	OMIM:612379
HP:0003593	Infantile onset	79644	SRD5A3	OMIM:612713
HP:0003593	Infantile onset	50	ACO2	OMIM:614559
HP:0003593	Infantile onset	3097	HIVEP2	OMIM:616977
HP:0003593	Infantile onset	3176	HNMT	OMIM:616739
HP:0003593	Infantile onset	84679	SLC9A7	OMIM:301024
HP:0003593	Infantile onset	5251	PHEX	OMIM:307800
HP:0003593	Infantile onset	4694	NDUFA1	OMIM:301020
HP:0003593	Infantile onset	27235	COQ2	OMIM:607426
HP:0003593	Infantile onset	25953	PNKD	OMIM:118800
HP:0003593	Infantile onset	727676	SNORD118	OMIM:614561
HP:0003593	Infantile onset	23732	FRRS1L	OMIM:616981
HP:0003593	Infantile onset	54885	TBC1D8B	OMIM:301028
HP:0003593	Infantile onset	63035	BCORL1	OMIM:301029
HP:0003593	Infantile onset	7128	TNFAIP3	OMIM:616744
HP:0003593	Infantile onset	6709	SPTAN1	OMIM:613477
HP:0003593	Infantile onset	1778	DYNC1H1	OMIM:614563
HP:0003593	Infantile onset	51741	WWOX	OMIM:614322
HP:0003593	Infantile onset	51741	WWOX	OMIM:616211
HP:0003593	Infantile onset	4358	MPV17	OMIM:256810
HP:0003593	Infantile onset	10616	RBCK1	OMIM:615895
HP:0003593	Infantile onset	545	ATR	OMIM:614564
HP:0003593	Infantile onset	6678	SPARC	OMIM:616507
HP:0003593	Infantile onset	6606	SMN1	OMIM:253300
HP:0003593	Infantile onset	84693	MCEE	OMIM:251120
HP:0003593	Infantile onset	51185	CRBN	OMIM:607417
HP:0003593	Infantile onset	4982	TNFRSF11B	OMIM:239000
HP:0003593	Infantile onset	6907	TBL1X	OMIM:301033
HP:0003593	Infantile onset	57165	GJC2	OMIM:613480
HP:0003593	Infantile onset	57165	GJC2	OMIM:608804
HP:0003593	Infantile onset	617	BCS1L	OMIM:262000
HP:0003593	Infantile onset	4891	SLC11A2	OMIM:206100
HP:0003593	Infantile onset	56479	KCNQ5	OMIM:617601
HP:0003593	Infantile onset	23152	CIC	OMIM:617600
HP:0003593	Infantile onset	149461	CLDN19	OMIM:248190
HP:0003593	Infantile onset	4914	NTRK1	OMIM:256800
HP:0003593	Infantile onset	25839	COG4	OMIM:613489
HP:0003593	Infantile onset	667	DST	OMIM:615425
HP:0003593	Infantile onset	9863	MAGI2	OMIM:617609
HP:0003593	Infantile onset	401138	AMTN	OMIM:617607
HP:0003593	Infantile onset	9997	SCO2	OMIM:604377
HP:0003593	Infantile onset	3887	KRT81	OMIM:158000
HP:0003593	Infantile onset	3889	KRT83	OMIM:158000
HP:0003593	Infantile onset	3889	KRT83	OMIM:617756
HP:0003593	Infantile onset	3892	KRT86	OMIM:158000
HP:0003593	Infantile onset	7454	WAS	OMIM:301000
HP:0003593	Infantile onset	11078	TRIOBP	OMIM:609823
HP:0003593	Infantile onset	930	CD19	OMIM:613493
HP:0003593	Infantile onset	8270	LAGE3	OMIM:301006
HP:0003593	Infantile onset	6812	STXBP1	OMIM:612164
HP:0003593	Infantile onset	55180	LINS1	OMIM:614340
HP:0003593	Infantile onset	11222	MRPL3	OMIM:614582
HP:0003593	Infantile onset	8929	PHOX2B	OMIM:209880
HP:0003593	Infantile onset	81689	ISCA1	OMIM:617613
HP:0003593	Infantile onset	1213	CLTC	OMIM:617854
HP:0003593	Infantile onset	2517	FUCA1	OMIM:230000
HP:0003593	Infantile onset	1859	DYRK1A	OMIM:614104
HP:0003593	Infantile onset	7249	TSC2	OMIM:613254
HP:0003593	Infantile onset	7249	TSC2	OMIM:607341
HP:0003593	Infantile onset	3458	IFNG	OMIM:613254
HP:0003593	Infantile onset	23040	MYT1L	OMIM:616521
HP:0003593	Infantile onset	199221	DZIP1L	OMIM:617610
HP:0003593	Infantile onset	64857	PLEKHG2	OMIM:616763
HP:0003593	Infantile onset	189	AGXT	OMIM:259900
HP:0003593	Infantile onset	80232	WDR26	OMIM:617616
HP:0003593	Infantile onset	4329	ALDH6A1	OMIM:614105
HP:0003593	Infantile onset	3570	IL6R	OMIM:618944
HP:0003593	Infantile onset	3575	IL7R	OMIM:608971
HP:0003593	Infantile onset	4148	MATN3	OMIM:608728
HP:0003593	Infantile onset	3060	HCRT	OMIM:161400
HP:0003593	Infantile onset	122553	TRAPPC6B	OMIM:617862
HP:0003593	Infantile onset	10345	TRDN	OMIM:615441
HP:0003593	Infantile onset	162514	TRPV3	OMIM:614594
HP:0003593	Infantile onset	27031	NPHP3	OMIM:208540
HP:0003593	Infantile onset	60528	ELAC2	OMIM:615440
HP:0003593	Infantile onset	57688	ZSWIM6	OMIM:617865
HP:0003593	Infantile onset	51816	ADA2	OMIM:615688
HP:0003593	Infantile onset	51816	ADA2	OMIM:182410
HP:0003593	Infantile onset	207	AKT1	OMIM:176920
HP:0003593	Infantile onset	2893	GRIA4	OMIM:617864
HP:0003593	Infantile onset	81562	LMAN2L	OMIM:617863
HP:0003593	Infantile onset	81562	LMAN2L	OMIM:616887
HP:0003593	Infantile onset	51364	ZMYND10	OMIM:615444
HP:0003593	Infantile onset	1605	DAG1	OMIM:616538
HP:0003593	Infantile onset	5261	PHKG2	OMIM:613027
HP:0003593	Infantile onset	84433	CARD11	OMIM:615206
HP:0003593	Infantile onset	8292	COLQ	OMIM:603034
HP:0003593	Infantile onset	113246	C12orf57	OMIM:218340
HP:0003593	Infantile onset	51	ACOX1	OMIM:264470
HP:0003593	Infantile onset	5873	RAB27A	OMIM:607624
HP:0003593	Infantile onset	54888	NSUN2	OMIM:611091
HP:0003593	Infantile onset	2898	GRIK2	OMIM:611092
HP:0003593	Infantile onset	54802	TRIT1	OMIM:617873
HP:0003593	Infantile onset	51081	MRPS7	OMIM:617872
HP:0003593	Infantile onset	10020	GNE	OMIM:269921
HP:0003593	Infantile onset	1537	CYC1	OMIM:615453
HP:0003593	Infantile onset	9731	CEP104	OMIM:616781
HP:0003593	Infantile onset	9731	CEP104	OMIM:619988
HP:0003593	Infantile onset	5295	PIK3R1	OMIM:615214
HP:0003593	Infantile onset	5295	PIK3R1	OMIM:616005
HP:0003593	Infantile onset	10274	STAG1	OMIM:617635
HP:0003593	Infantile onset	4724	NDUFS4	OMIM:252010
HP:0003593	Infantile onset	5449	POU1F1	OMIM:613038
HP:0003593	Infantile onset	23389	MED13L	OMIM:616789
HP:0003593	Infantile onset	84059	ADGRV1	OMIM:604352
HP:0003593	Infantile onset	8139	GAN	OMIM:256850
HP:0003593	Infantile onset	55553	SOX6	OMIM:618971
HP:0003593	Infantile onset	51075	TMX2	OMIM:618730
HP:0003593	Infantile onset	8884	SLC5A6	OMIM:618973
HP:0003593	Infantile onset	115286	SLC25A26	OMIM:616794
HP:0003593	Infantile onset	80169	CTC1	OMIM:612199
HP:0003593	Infantile onset	51763	INPP5K	OMIM:617404
HP:0003593	Infantile onset	721	C4B	OMIM:614379
HP:0003593	Infantile onset	10892	MALT1	OMIM:615468
HP:0003593	Infantile onset	10844	TUBGCP2	OMIM:618737
HP:0003593	Infantile onset	55367	PIDD1	OMIM:619827
HP:0003593	Infantile onset	109	ADCY3	OMIM:617885
HP:0003593	Infantile onset	7252	TSHB	OMIM:275100
HP:0003593	Infantile onset	2778	GNAS	OMIM:103580
HP:0003593	Infantile onset	2778	GNAS	OMIM:166350
HP:0003593	Infantile onset	2746	GLUD1	OMIM:606762
HP:0003593	Infantile onset	1497	CTNS	OMIM:219800
HP:0003593	Infantile onset	3551	IKBKB	OMIM:615592
HP:0003593	Infantile onset	29925	GMPPB	OMIM:615350
HP:0003593	Infantile onset	29925	GMPPB	OMIM:615351
HP:0003593	Infantile onset	8367	H4C5	OMIM:619950
HP:0003593	Infantile onset	8294	H4C9	OMIM:619951
HP:0003593	Infantile onset	5728	PTEN	OMIM:605309
HP:0003593	Infantile onset	9853	RUSC2	OMIM:617773
HP:0003593	Infantile onset	9860	LRIG2	OMIM:615112
HP:0003593	Infantile onset	3703	STT3A	OMIM:615596
HP:0003593	Infantile onset	3703	STT3A	OMIM:619714
HP:0003593	Infantile onset	5723	PSPH	OMIM:614023
HP:0003593	Infantile onset	9524	TECR	OMIM:614020
HP:0003593	Infantile onset	343450	KCNT2	OMIM:617771
HP:0003593	Infantile onset	2132	EXT2	OMIM:616682
HP:0003593	Infantile onset	2132	EXT2	OMIM:133701
HP:0003593	Infantile onset	6873	TAF2	OMIM:615599
HP:0003593	Infantile onset	3783	KCNN4	OMIM:616689
HP:0003593	Infantile onset	2895	GRID2	OMIM:616204
HP:0003593	Infantile onset	84818	IL17RC	OMIM:616445
HP:0003593	Infantile onset	51126	NAA20	OMIM:619717
HP:0003593	Infantile onset	2972	BRF1	OMIM:616202
HP:0003593	Infantile onset	8710	SERPINB7	OMIM:615598
HP:0003593	Infantile onset	4860	PNP	OMIM:613179
HP:0003593	Infantile onset	1355	COX15	OMIM:615119
HP:0003593	Infantile onset	81857	MED25	OMIM:616449
HP:0003593	Infantile onset	4254	KITLG	OMIM:145250
HP:0003593	Infantile onset	755	CFAP410	OMIM:602271
HP:0003593	Infantile onset	84942	WDR73	OMIM:251300
HP:0003593	Infantile onset	10060	ABCC9	OMIM:619719
HP:0003593	Infantile onset	7259	TSPYL1	OMIM:608800
HP:0003593	Infantile onset	4522	MTHFD1	OMIM:617780
HP:0003593	Infantile onset	3021	H3-3B	OMIM:619721
HP:0003593	Infantile onset	1630	DCC	OMIM:617542
HP:0003593	Infantile onset	1630	DCC	OMIM:157600
HP:0003593	Infantile onset	10026	PIGK	OMIM:618879
HP:0003593	Infantile onset	51111	KMT5B	OMIM:617788
HP:0003593	Infantile onset	790	CAD	OMIM:616457
HP:0003593	Infantile onset	1106	CHD2	OMIM:615369
HP:0003593	Infantile onset	2670	GFAP	OMIM:203450
HP:0003593	Infantile onset	65082	VPS33A	OMIM:617303
HP:0003593	Infantile onset	526	ATP6V1B2	OMIM:616455
HP:0003593	Infantile onset	10730	YME1L1	OMIM:617302
HP:0003593	Infantile onset	10565	ARFGEF1	OMIM:619964
HP:0003593	Infantile onset	8309	ACOX2	OMIM:617308
HP:0003593	Infantile onset	5610	EIF2AK2	OMIM:618877
HP:0003593	Infantile onset	57156	TMEM63C	OMIM:619966
HP:0003593	Infantile onset	51473	DCDC2	OMIM:616217
HP:0003593	Infantile onset	51473	DCDC2	OMIM:617394
HP:0003593	Infantile onset	27102	EIF2AK1	OMIM:618878
HP:0003593	Infantile onset	3781	KCNN2	OMIM:619725
HP:0003593	Infantile onset	120227	CYP2R1	OMIM:600081
HP:0003593	Infantile onset	5189	PEX1	OMIM:214100
HP:0003593	Infantile onset	5189	PEX1	OMIM:234580
HP:0003593	Infantile onset	140803	TRPM6	OMIM:602014
HP:0003593	Infantile onset	10559	SLC35A1	OMIM:603585
HP:0003593	Infantile onset	83696	TRAPPC9	OMIM:613192
HP:0003593	Infantile onset	535	ATP6V0A1	OMIM:619971
HP:0003593	Infantile onset	535	ATP6V0A1	OMIM:619970
HP:0003593	Infantile onset	60561	RINT1	OMIM:618641
HP:0003593	Infantile onset	129685	TAF8	OMIM:619972
HP:0003593	Infantile onset	55870	ASH1L	OMIM:617796
HP:0003593	Infantile onset	286204	CRB2	OMIM:616220
HP:0003593	Infantile onset	816	CAMK2B	OMIM:617799
HP:0003593	Infantile onset	79797	ZNF408	OMIM:616468
HP:0003593	Infantile onset	51319	RSRC1	OMIM:618402
HP:0003593	Infantile onset	7920	ABHD16A	OMIM:619735
HP:0003593	Infantile onset	85365	ALG2	OMIM:616228
HP:0003593	Infantile onset	85365	ALG2	OMIM:607906
HP:0003593	Infantile onset	4323	MMP14	OMIM:277950
HP:0003593	Infantile onset	1834	DSPP	OMIM:125420
HP:0003593	Infantile onset	10715	CERS1	OMIM:616230
HP:0003593	Infantile onset	203286	ANKS6	OMIM:615382
HP:0003593	Infantile onset	84504	NKX6-2	OMIM:617560
HP:0003593	Infantile onset	2688	GH1	OMIM:262400
HP:0003593	Infantile onset	283987	HID1	OMIM:619983
HP:0003593	Infantile onset	1303	COL12A1	OMIM:616470
HP:0003593	Infantile onset	5442	POLRMT	OMIM:619743
HP:0003593	Infantile onset	6712	SPTBN2	OMIM:615386
HP:0003593	Infantile onset	6712	SPTBN2	OMIM:600224
HP:0003593	Infantile onset	4174	MCM5	OMIM:617564
HP:0003593	Infantile onset	28755	TRAC	OMIM:615387
HP:0003593	Infantile onset	57178	ZMIZ1	OMIM:618659
HP:0003593	Infantile onset	388962	BOLA3	OMIM:614299
HP:0003593	Infantile onset	2783	GNB2	OMIM:619503
HP:0003593	Infantile onset	200734	SPRED2	OMIM:619745
HP:0003593	Infantile onset	79731	NARS2	OMIM:616239
HP:0003593	Infantile onset	55623	THUMPD1	OMIM:619989
HP:0003593	Infantile onset	284439	SLC25A42	OMIM:618416
HP:0003593	Infantile onset	112476	PRRT2	OMIM:605751
HP:0003593	Infantile onset	9927	MFN2	OMIM:601152
HP:0003593	Infantile onset	610	HCN2	OMIM:602477
HP:0003593	Infantile onset	51594	NBAS	OMIM:616483
HP:0003593	Infantile onset	253738	EBF3	OMIM:617330
HP:0003593	Infantile onset	10043	TOM1	OMIM:619510
HP:0003593	Infantile onset	3572	IL6ST	OMIM:619752
HP:0003593	Infantile onset	3572	IL6ST	OMIM:619750
HP:0003593	Infantile onset	56006	SMG9	OMIM:619995
HP:0003593	Infantile onset	85301	COL27A1	OMIM:615155
HP:0003593	Infantile onset	8879	SGPL1	OMIM:617575
HP:0003593	Infantile onset	51604	PIGT	OMIM:615398
HP:0003593	Infantile onset	142680	SLC34A3	OMIM:241530
HP:0003593	Infantile onset	65080	MRPL44	OMIM:615395
HP:0003593	Infantile onset	54914	FOCAD	OMIM:619991
HP:0003593	Infantile onset	27089	UQCRQ	OMIM:615159
HP:0003593	Infantile onset	1182	CLCN3	OMIM:619517
HP:0003593	Infantile onset	55699	IARS2	OMIM:616007
HP:0003593	Infantile onset	5159	PDGFRB	OMIM:228550
HP:0003593	Infantile onset	801	CALM1	OMIM:616247
HP:0003593	Infantile onset	6023	RMRP	OMIM:250250
HP:0003593	Infantile onset	57863	CADM3	OMIM:619519
HP:0003593	Infantile onset	7381	UQCRB	OMIM:615158
HP:0003593	Infantile onset	59335	PRDM12	OMIM:616488
HP:0003593	Infantile onset	7701	ZNF142	OMIM:618425
HP:0003593	Infantile onset	2643	GCH1	OMIM:233910
HP:0003593	Infantile onset	4191	MDH2	OMIM:617339
HP:0003593	Infantile onset	8517	IKBKG	OMIM:301081
HP:0003593	Infantile onset	8517	IKBKG	OMIM:300636
HP:0003593	Infantile onset	23474	ETHE1	OMIM:602473
HP:0003593	Infantile onset	166785	MMAA	OMIM:251100
HP:0003593	Infantile onset	5551	PRF1	OMIM:603553
HP:0003593	Infantile onset	8676	STX11	OMIM:603552
HP:0003593	Infantile onset	9533	POLR1C	OMIM:616494
HP:0003593	Infantile onset	11234	HPS5	OMIM:614074
HP:0003593	Infantile onset	10021	HCN4	OMIM:619521
HP:0003593	Infantile onset	7750	ZMYM2	OMIM:619522
HP:0003593	Infantile onset	5971	RELB	OMIM:617585
HP:0003593	Infantile onset	9474	ATG5	OMIM:617584
HP:0003593	Infantile onset	4849	CNOT3	OMIM:618672
HP:0003593	Infantile onset	59336	PRDM13	OMIM:619761
HP:0003593	Infantile onset	6942	TCF20	OMIM:618430
HP:0003593	Infantile onset	773	CACNA1A	OMIM:617106
HP:0003593	Infantile onset	6121	RPE65	OMIM:204100
HP:0003593	Infantile onset	6506	SLC1A2	OMIM:617105
HP:0003593	Infantile onset	10297	APC2	OMIM:618677
HP:0003593	Infantile onset	10297	APC2	OMIM:617169
HP:0003593	Infantile onset	9338	TCEAL1	OMIM:301094
HP:0003593	Infantile onset	57724	EPG5	OMIM:242840
HP:0003593	Infantile onset	51651	PTRH2	OMIM:616263
HP:0003593	Infantile onset	23162	MAPK8IP3	OMIM:618443
HP:0003593	Infantile onset	3978	LIG1	OMIM:619774
HP:0003593	Infantile onset	6324	SCN1B	OMIM:617350
HP:0003593	Infantile onset	55120	FANCL	OMIM:614083
HP:0003593	Infantile onset	79989	IFT56	OMIM:619534
HP:0003593	Infantile onset	9319	TRIP13	OMIM:617598
HP:0003593	Infantile onset	284098	PIGW	OMIM:616025
HP:0003593	Infantile onset	2562	GABRB3	OMIM:617113
HP:0003593	Infantile onset	10463	SLC30A9	OMIM:617595
HP:0003593	Infantile onset	84522	JAGN1	OMIM:616022
HP:0003593	Infantile onset	79977	GRHL2	OMIM:616029
HP:0003593	Infantile onset	388662	SLC6A17	OMIM:616269
HP:0003593	Infantile onset	2678	GGT1	OMIM:231950
HP:0003593	Infantile onset	51227	PIGP	OMIM:617599
HP:0003593	Infantile onset	5271	SERPINB8	OMIM:617115
HP:0003593	Infantile onset	1107	CHD3	OMIM:618205
HP:0003593	Infantile onset	51196	PLCE1	OMIM:610725
HP:0003593	Infantile onset	387733	IFITM5	OMIM:610967
HP:0003593	Infantile onset	64421	DCLRE1C	OMIM:602450
HP:0003593	Infantile onset	60681	FKBP10	OMIM:610968
HP:0003593	Infantile onset	57192	MCOLN1	OMIM:252650
HP:0003593	Infantile onset	3756	KCNH1	OMIM:611816
HP:0003593	Infantile onset	51311	TLR8	OMIM:301078
HP:0003593	Infantile onset	79628	SH3TC2	OMIM:601596
HP:0003593	Infantile onset	258	AMBN	OMIM:616270
HP:0003593	Infantile onset	2000	ELF4	OMIM:301074
HP:0003593	Infantile onset	3730	ANOS1	OMIM:308700
HP:0003593	Infantile onset	148789	B3GALNT2	OMIM:615181
HP:0003593	Infantile onset	81704	DOCK8	OMIM:243700
HP:0003593	Infantile onset	27247	NFU1	OMIM:605711
HP:0003593	Infantile onset	57505	AARS2	OMIM:614096
HP:0003593	Infantile onset	27077	B9D1	OMIM:617120
HP:0003593	Infantile onset	5825	ABCD3	OMIM:616278
HP:0003593	Infantile onset	133686	NADK2	OMIM:616034
HP:0003593	Infantile onset	3658	IREB2	OMIM:618451
HP:0003593	Infantile onset	55770	EXOC2	OMIM:619306
HP:0003593	Infantile onset	6857	SYT1	OMIM:618218
HP:0003593	Infantile onset	5277	PIGA	OMIM:301072
HP:0003593	Infantile onset	8905	AP1S2	OMIM:304340
HP:0003593	Infantile onset	10456	HAX1	OMIM:610738
HP:0003593	Infantile onset	6927	HNF1A	OMIM:600496
HP:0003593	Infantile onset	84706	GPT2	OMIM:616281
HP:0003593	Infantile onset	79876	UBA5	OMIM:617132
HP:0003593	Infantile onset	9759	HDAC4	OMIM:619797
HP:0003593	Infantile onset	4723	NDUFV1	OMIM:618225
HP:0003593	Infantile onset	30000	TNPO2	OMIM:619556
HP:0003593	Infantile onset	79705	LRRK1	OMIM:615198
HP:0003593	Infantile onset	51728	POLR3K	OMIM:619310
HP:0003593	Infantile onset	4719	NDUFS1	OMIM:618226
HP:0003593	Infantile onset	55628	ZNF407	OMIM:619557
HP:0003593	Infantile onset	4720	NDUFS2	OMIM:618228
HP:0003593	Infantile onset	4729	NDUFV2	OMIM:618229
HP:0003593	Infantile onset	3426	CFI	OMIM:610984
HP:0003593	Infantile onset	718	C3	OMIM:612925
HP:0003593	Infantile onset	718	C3	OMIM:613779
HP:0003593	Infantile onset	51412	ACTL6B	OMIM:618470
HP:0003593	Infantile onset	1536	CYBB	OMIM:300645
HP:0003593	Infantile onset	60482	SLC5A7	OMIM:617143
HP:0003593	Infantile onset	831	CAST	OMIM:616295
HP:0003593	Infantile onset	6514	SLC2A2	OMIM:227810
HP:0003593	Infantile onset	51103	NDUFAF1	OMIM:618234
HP:0003593	Infantile onset	3714	JAG2	OMIM:619566
HP:0003593	Infantile onset	4695	NDUFA2	OMIM:618235
HP:0003593	Infantile onset	3561	IL2RG	OMIM:300400
HP:0003593	Infantile onset	79868	ALG13	OMIM:300884
HP:0003593	Infantile onset	6651	SON	OMIM:617140
HP:0003593	Infantile onset	8867	SYNJ1	OMIM:617389
HP:0003593	Infantile onset	51601	LIPT1	OMIM:616299
HP:0003593	Infantile onset	10659	CELF2	OMIM:619561
HP:0003593	Infantile onset	22861	NLRP1	OMIM:617388
HP:0003593	Infantile onset	23030	KDM4B	OMIM:619320
HP:0003593	Infantile onset	3745	KCNB1	OMIM:616056
HP:0003593	Infantile onset	137682	NDUFAF6	OMIM:618239
HP:0003593	Infantile onset	5010	CLDN11	OMIM:619328
HP:0003593	Infantile onset	9622	KLK4	OMIM:204700
HP:0003593	Infantile onset	1130	LYST	OMIM:214500
HP:0003593	Infantile onset	2067	ERCC1	OMIM:610758
HP:0003593	Infantile onset	79944	L2HGDH	OMIM:236792
HP:0003593	Infantile onset	8869	ST3GAL5	OMIM:609056
HP:0003593	Infantile onset	10166	SLC25A15	OMIM:238970
HP:0003593	Infantile onset	1725	DHPS	OMIM:618480
HP:0003593	Infantile onset	3192	HNRNPU	OMIM:617391
HP:0003593	Infantile onset	55967	NDUFA12	OMIM:618244
HP:0003593	Infantile onset	25929	GEMIN5	OMIM:619333
HP:0003593	Infantile onset	4715	NDUFB9	OMIM:618245
HP:0003593	Infantile onset	56915	EXOSC5	OMIM:619576
HP:0003593	Infantile onset	22796	COG2	OMIM:617395
HP:0003593	Infantile onset	2560	GABRB1	OMIM:617153
HP:0003593	Infantile onset	23221	RHOBTB2	OMIM:618004
HP:0003593	Infantile onset	112939	NACC1	OMIM:617393
HP:0003593	Infantile onset	25915	NDUFAF3	OMIM:618240
HP:0003593	Infantile onset	2707	GJB3	OMIM:133200
HP:0003593	Infantile onset	50619	DEF6	OMIM:619573
HP:0003593	Infantile onset	165	AEBP1	OMIM:618000
HP:0003593	Infantile onset	3394	IRF8	OMIM:226990
HP:0003593	Infantile onset	4705	NDUFA10	OMIM:618243
HP:0003593	Infantile onset	23229	ARHGEF9	OMIM:300607
HP:0003593	Infantile onset	123263	MTFMT	OMIM:618248
HP:0003593	Infantile onset	7965	AIMP2	OMIM:618006
HP:0003593	Infantile onset	51079	NDUFA13	OMIM:618249
HP:0003593	Infantile onset	84188	FAR1	OMIM:619338
HP:0003593	Infantile onset	10157	AASS	OMIM:238700
HP:0003593	Infantile onset	23203	PMPCA	OMIM:213200
HP:0003593	Infantile onset	22845	DOLK	OMIM:610768
HP:0003593	Infantile onset	55750	AGK	OMIM:212350
HP:0003593	Infantile onset	8604	SLC25A12	OMIM:612949
HP:0003593	Infantile onset	3158	HMGCS2	OMIM:605911
HP:0003593	Infantile onset	80324	PUS1	OMIM:600462
HP:0003593	Infantile onset	1781	DYNC1I2	OMIM:618492
HP:0003593	Infantile onset	7319	UBE2A	OMIM:300860
HP:0003593	Infantile onset	9509	ADAMTS2	OMIM:225410
HP:0003593	Infantile onset	774	CACNA1B	OMIM:618497
HP:0003593	Infantile onset	26175	LYSET	OMIM:619345
HP:0003593	Infantile onset	10845	CLPX	OMIM:618015
HP:0003593	Infantile onset	23522	KAT6B	OMIM:603736
HP:0003593	Infantile onset	2906	GRIN2D	OMIM:617162
HP:0003593	Infantile onset	9451	EIF2AK3	OMIM:226980
HP:0003593	Infantile onset	51300	TIMMDC1	OMIM:618251
HP:0003593	Infantile onset	54681	P4HTM	OMIM:618493
HP:0003593	Infantile onset	4714	NDUFB8	OMIM:618252
HP:0003593	Infantile onset	4126	MANBA	OMIM:248510
HP:0003593	Infantile onset	4700	NDUFA6	OMIM:618253
HP:0003593	Infantile onset	26040	SETBP1	OMIM:616078
HP:0003593	Infantile onset	3560	IL2RB	OMIM:618495
HP:0003593	Infantile onset	523	ATP6V1A	OMIM:618012
HP:0003593	Infantile onset	2257	FGF12	OMIM:617166
HP:0003593	Infantile onset	8635	RNASET2	OMIM:612951
HP:0003593	Infantile onset	25939	SAMHD1	OMIM:612952
HP:0003593	Infantile onset	25939	SAMHD1	OMIM:614415
HP:0003593	Infantile onset	412	STS	OMIM:308100
HP:0003593	Infantile onset	84701	COX4I2	OMIM:612714
HP:0003593	Infantile onset	6697	SPR	OMIM:612716
HP:0003593	Infantile onset	339829	CCDC39	OMIM:613807
HP:0003593	Infantile onset	2628	GATM	OMIM:612718
HP:0003593	Infantile onset	10771	ZMYND11	OMIM:616083
HP:0003593	Infantile onset	11340	EXOSC8	OMIM:616081
HP:0003593	Infantile onset	23322	RPGRIP1L	OMIM:619113
HP:0003593	Infantile onset	37	ACADVL	OMIM:201475
HP:0003593	Infantile onset	65018	PINK1	OMIM:605909
HP:0003593	Infantile onset	139411	PTCHD1	OMIM:300830
HP:0003593	Infantile onset	5977	DPF2	OMIM:618027
HP:0003593	Infantile onset	51095	TRNT1	OMIM:616084
HP:0003593	Infantile onset	10681	GNB5	OMIM:617173
HP:0003593	Infantile onset	10681	GNB5	OMIM:617182
HP:0003593	Infantile onset	35	ACADS	OMIM:201470
HP:0003593	Infantile onset	10847	SRCAP	OMIM:619595
HP:0003593	Infantile onset	10847	SRCAP	OMIM:136140
HP:0003593	Infantile onset	1387	CREBBP	OMIM:180849
HP:0003593	Infantile onset	3839	KPNA3	OMIM:620106
HP:0003593	Infantile onset	51091	SEPSECS	OMIM:613811
HP:0003593	Infantile onset	538	ATP7A	OMIM:309400
HP:0003593	Infantile onset	84197	POMK	OMIM:616094
HP:0003593	Infantile onset	55210	ATAD3A	OMIM:617183
HP:0003593	Infantile onset	2571	GAD1	OMIM:619124
HP:0003593	Infantile onset	8915	BCL10	OMIM:616098
HP:0003593	Infantile onset	10483	SEC23B	OMIM:224100
HP:0003593	Infantile onset	90522	YIF1B	OMIM:619125
HP:0003593	Infantile onset	128240	NAXE	OMIM:617186
HP:0003593	Infantile onset	54790	TET2	OMIM:619126
HP:0003593	Infantile onset	10651	MTX2	OMIM:619127
HP:0003593	Infantile onset	285	ANGPT2	OMIM:619369
HP:0003593	Infantile onset	6566	SLC16A1	OMIM:616095
HP:0003593	Infantile onset	22983	MAST1	OMIM:618273
HP:0003593	Infantile onset	23287	AGTPBP1	OMIM:618276
HP:0003593	Infantile onset	79143	MBOAT7	OMIM:617188
HP:0003593	Infantile onset	226	ALDOA	OMIM:611881
HP:0003593	Infantile onset	23031	MAST3	OMIM:620115
HP:0003593	Infantile onset	498	ATP5F1A	OMIM:620358
HP:0003593	Infantile onset	8911	CACNA1I	OMIM:620114
HP:0003593	Infantile onset	3030	HADHA	OMIM:609015
HP:0003593	Infantile onset	2593	GAMT	OMIM:612736
HP:0003593	Infantile onset	4322	MMP13	OMIM:250400
HP:0003593	Infantile onset	1406	CRX	OMIM:613829
HP:0003593	Infantile onset	6123	RPL3L	OMIM:619371
HP:0003593	Infantile onset	6904	TBCD	OMIM:617193
HP:0003593	Infantile onset	6571	SLC18A2	OMIM:618049
HP:0003593	Infantile onset	11014	KDELR2	OMIM:619131
HP:0003593	Infantile onset	23154	NCDN	OMIM:619373
HP:0003593	Infantile onset	4938	OAS1	OMIM:618042
HP:0003593	Infantile onset	57152	SLURP1	OMIM:248300
HP:0003593	Infantile onset	100	ADA	OMIM:102700
HP:0003593	Infantile onset	4668	NAGA	OMIM:609241
HP:0003593	Infantile onset	9487	PIGL	OMIM:280000
HP:0003593	Infantile onset	23418	CRB1	OMIM:613835
HP:0003593	Infantile onset	124454	EARS2	OMIM:614924
HP:0003593	Infantile onset	1795	DOCK3	OMIM:618292
HP:0003593	Infantile onset	11011	TLK2	OMIM:618050
HP:0003593	Infantile onset	6850	SYK	OMIM:619381
HP:0003593	Infantile onset	57538	ALPK3	OMIM:618052
HP:0003593	Infantile onset	5257	PHKB	OMIM:261750
HP:0003593	Infantile onset	1604	CD55	OMIM:226300
HP:0003593	Infantile onset	27072	VPS41	OMIM:619389
HP:0003593	Infantile onset	27161	AGO2	OMIM:619149
HP:0003593	Infantile onset	8665	EIF3F	OMIM:618295
HP:0003593	Infantile onset	221927	BRAT1	OMIM:618056
HP:0003593	Infantile onset	221927	BRAT1	OMIM:614498
HP:0003593	Infantile onset	9131	AIFM1	OMIM:300816
HP:0003593	Infantile onset	87178	PNPT1	OMIM:614932
HP:0003593	Infantile onset	10535	RNASEH2A	OMIM:610333
HP:0003593	Infantile onset	7287	TULP1	OMIM:613843
HP:0003593	Infantile onset	90523	MLIP	OMIM:620138
HP:0003593	Infantile onset	9935	MAFB	OMIM:166300
HP:0003593	Infantile onset	54938	SARS2	OMIM:613845
HP:0003593	Infantile onset	64858	DCLRE1B	OMIM:620133
HP:0003593	Infantile onset	26275	HIBCH	OMIM:250620
HP:0003593	Infantile onset	121340	SP7	OMIM:613849
HP:0003593	Infantile onset	114548	NLRP3	OMIM:120100
HP:0003593	Infantile onset	114548	NLRP3	OMIM:607115
HP:0003593	Infantile onset	1534	CYB561	OMIM:618182
HP:0003593	Infantile onset	4702	NDUFA8	OMIM:619272
HP:0003593	Infantile onset	199857	ALG14	OMIM:619031
HP:0003593	Infantile onset	4359	MPZ	OMIM:618184
HP:0003593	Infantile onset	4359	MPZ	OMIM:145900
HP:0003593	Infantile onset	84189	SLITRK6	OMIM:221200
HP:0003593	Infantile onset	10128	LRPPRC	OMIM:220111
HP:0003593	Infantile onset	2077	ERF	OMIM:600775
HP:0003593	Infantile onset	10134	BCAP31	OMIM:300475
HP:0003593	Infantile onset	158	ADSL	OMIM:103050
HP:0003593	Infantile onset	79717	PPCS	OMIM:618189
HP:0003593	Infantile onset	81555	YIPF5	OMIM:619278
HP:0003593	Infantile onset	90268	OTULIN	OMIM:617099
HP:0003593	Infantile onset	4574	MT-TS1	OMIM:220110
HP:0003593	Infantile onset	4570	MT-TN	OMIM:220110
HP:0003593	Infantile onset	6834	SURF1	OMIM:220110
HP:0003593	Infantile onset	80821	DDHD1	OMIM:609340
HP:0003593	Infantile onset	775	CACNA1C	OMIM:620029
HP:0003593	Infantile onset	347734	SLC35B2	OMIM:620269
HP:0003593	Infantile onset	55325	UFSP2	OMIM:620028
HP:0003593	Infantile onset	55325	UFSP2	OMIM:617974
HP:0003593	Infantile onset	4774	NFIA	OMIM:613735
HP:0003593	Infantile onset	1119	CHKA	OMIM:620023
HP:0003593	Infantile onset	5111	PCNA	OMIM:615919
HP:0003593	Infantile onset	118987	PDZD8	OMIM:620021
HP:0003593	Infantile onset	57176	VARS2	OMIM:615917
HP:0003593	Infantile onset	80222	TARS2	OMIM:615918
HP:0003593	Infantile onset	5293	PIK3CD	OMIM:619281
HP:0003593	Infantile onset	3073	HEXA	OMIM:272800
HP:0003593	Infantile onset	6840	SVIL	OMIM:619040
HP:0003593	Infantile onset	2617	GARS1	OMIM:619042
HP:0003593	Infantile onset	4983	OPHN1	OMIM:300486
HP:0003593	Infantile onset	2050	EPHB4	OMIM:618196
HP:0003593	Infantile onset	6576	SLC25A1	OMIM:618197
HP:0003593	Infantile onset	1352	COX10	OMIM:619046
HP:0003593	Infantile onset	973	CD79A	OMIM:613501
HP:0003593	Infantile onset	3543	IGLL1	OMIM:613500
HP:0003593	Infantile onset	2911	GRM1	OMIM:614831
HP:0003593	Infantile onset	6507	SLC1A3	OMIM:612656
HP:0003593	Infantile onset	29760	BLNK	OMIM:613502
HP:0003593	Infantile onset	63908	NAPB	OMIM:620033
HP:0003593	Infantile onset	7298	TYMS	OMIM:620040
HP:0003593	Infantile onset	8647	ABCB11	OMIM:601847
HP:0003593	Infantile onset	2892	GRIA3	OMIM:300699
HP:0003593	Infantile onset	100131801	PET100	OMIM:619055
HP:0003593	Infantile onset	9739	SETD1A	OMIM:619056
HP:0003593	Infantile onset	7045	TGFBI	OMIM:608470
HP:0003593	Infantile onset	7084	TK2	OMIM:609560
HP:0003593	Infantile onset	191	AHCY	OMIM:613752
HP:0003593	Infantile onset	6499	SKIC2	OMIM:614602
HP:0003593	Infantile onset	686	BTD	OMIM:253260
HP:0003593	Infantile onset	340061	STING1	OMIM:615934
HP:0003593	Infantile onset	36	ACADSB	OMIM:610006
HP:0003593	Infantile onset	256297	PTF1A	OMIM:615935
HP:0003593	Infantile onset	5896	RAG1	OMIM:233650
HP:0003593	Infantile onset	5897	RAG2	OMIM:233650
HP:0003593	Infantile onset	10716	TBR1	OMIM:606053
HP:0003593	Infantile onset	1854	DUT	OMIM:620044
HP:0003593	Infantile onset	79087	ALG12	OMIM:607143
HP:0003593	Infantile onset	1339	COX6A2	OMIM:619062
HP:0003593	Infantile onset	8802	SUCLG1	OMIM:245400
HP:0003593	Infantile onset	9377	COX5A	OMIM:619064
HP:0003593	Infantile onset	4591	TRIM37	OMIM:253250
HP:0003593	Infantile onset	124512	METTL23	OMIM:615942
HP:0003593	Infantile onset	10382	TUBB4A	OMIM:612438
HP:0003593	Infantile onset	2214	FCGR3A	OMIM:615707
HP:0003593	Infantile onset	65250	CPLANE1	OMIM:614615
HP:0003593	Infantile onset	79443	FYCO1	OMIM:610019
HP:0003593	Infantile onset	1991	ELANE	OMIM:202700
HP:0003593	Infantile onset	2984	GUCY2C	OMIM:614616
HP:0003593	Infantile onset	9711	RUBCN	OMIM:615705
HP:0003593	Infantile onset	7915	ALDH5A1	OMIM:271980
HP:0003593	Infantile onset	23265	EXOC7	OMIM:619072
HP:0003593	Infantile onset	1802	DPH2	OMIM:620062
HP:0003593	Infantile onset	443	ASPA	OMIM:271900
HP:0003593	Infantile onset	6792	CDKL5	OMIM:300672
HP:0003593	Infantile onset	5091	PC	OMIM:266150
HP:0003593	Infantile onset	3028	HSD17B10	OMIM:300438
HP:0003593	Infantile onset	3852	KRT5	OMIM:131960
HP:0003593	Infantile onset	2677	GGCX	OMIM:277450
HP:0003593	Infantile onset	6774	STAT3	OMIM:615952
HP:0003593	Infantile onset	6774	STAT3	OMIM:147060
HP:0003593	Infantile onset	9255	AIMP1	OMIM:260600
HP:0003593	Infantile onset	5828	PEX2	OMIM:614867
HP:0003593	Infantile onset	2073	ERCC5	OMIM:278780
HP:0003593	Infantile onset	10290	SPEG	OMIM:615959
HP:0003593	Infantile onset	1282	COL4A1	OMIM:175780
HP:0003593	Infantile onset	5978	REST	OMIM:616806
HP:0003593	Infantile onset	93210	PGAP3	OMIM:615716
HP:0003593	Infantile onset	9990	SLC12A6	OMIM:620068
HP:0003593	Infantile onset	64837	KLC2	OMIM:609541
HP:0003593	Infantile onset	6609	SMPD1	OMIM:257200
HP:0003593	Infantile onset	1188	CLCNKB	OMIM:607364
HP:0003593	Infantile onset	5700	PSMC1	OMIM:620071
HP:0003593	Infantile onset	190	NR0B1	OMIM:300200
HP:0003593	Infantile onset	728294	D2HGDH	OMIM:600721
HP:0003593	Infantile onset	9095	TBX19	OMIM:201400
HP:0003593	Infantile onset	6261	RYR1	OMIM:117000
HP:0003593	Infantile onset	8481	OFD1	OMIM:300209
HP:0003593	Infantile onset	974	CD79B	OMIM:612692
HP:0003593	Infantile onset	9896	FIG4	OMIM:612691
HP:0003593	Infantile onset	54919	DNAAF5	OMIM:614874
HP:0003593	Infantile onset	9568	GABBR2	OMIM:617903
HP:0003593	Infantile onset	9568	GABBR2	OMIM:617904
HP:0003593	Infantile onset	5591	PRKDC	OMIM:615966
HP:0003593	Infantile onset	9409	PEX16	OMIM:614877
HP:0003593	Infantile onset	5336	PLCG2	OMIM:614878
HP:0003593	Infantile onset	5336	PLCG2	OMIM:614468
HP:0003593	Infantile onset	1811	SLC26A3	OMIM:214700
HP:0003593	Infantile onset	25828	TXN2	OMIM:616811
HP:0003593	Infantile onset	29110	TBK1	OMIM:617900
HP:0003593	Infantile onset	6231	RPS26	OMIM:613309
HP:0003593	Infantile onset	6204	RPS10	OMIM:613308
HP:0003593	Infantile onset	65217	PCDH15	OMIM:609533
HP:0003593	Infantile onset	4677	NARS1	OMIM:619091
HP:0003593	Infantile onset	9342	SNAP29	OMIM:609528
HP:0003593	Infantile onset	81031	SLC2A10	OMIM:208050
HP:0003593	Infantile onset	254065	BRWD3	OMIM:300659
HP:0003593	Infantile onset	9147	NEMF	OMIM:619099
HP:0003593	Infantile onset	282809	POC1B	OMIM:615973
HP:0003593	Infantile onset	26047	CNTNAP2	OMIM:610042
HP:0003593	Infantile onset	57654	UVSSA	OMIM:614640
HP:0003593	Infantile onset	50628	GEMIN4	OMIM:617913
HP:0003593	Infantile onset	2056	EPO	OMIM:617911
HP:0003593	Infantile onset	5195	PEX14	OMIM:614887
HP:0003593	Infantile onset	84317	CCDC115	OMIM:616828
HP:0003593	Infantile onset	85021	REPS1	OMIM:617916
HP:0003593	Infantile onset	3954	LETM1	OMIM:620089
HP:0003593	Infantile onset	1487	CTBP1	OMIM:617915
HP:0003593	Infantile onset	506	ATP5F1B	OMIM:620085
HP:0003593	Infantile onset	4313	MMP2	OMIM:259600
HP:0003593	Infantile onset	92154	MTSS2	OMIM:620086
HP:0003593	Infantile onset	7248	TSC1	OMIM:607341
HP:0003593	Infantile onset	2475	MTOR	OMIM:607341
HP:0003593	Infantile onset	2475	MTOR	OMIM:616638
HP:0003593	Infantile onset	84978	FRMD5	OMIM:620094
HP:0003593	Infantile onset	23636	NUP62	OMIM:271930
HP:0003593	Infantile onset	51004	COQ6	OMIM:614650
HP:0003593	Infantile onset	51067	YARS2	OMIM:613561
HP:0003593	Infantile onset	93183	PIGM	OMIM:610293
HP:0003593	Infantile onset	3593	IL12B	OMIM:614890
HP:0003593	Infantile onset	2581	GALC	OMIM:245200
HP:0003593	Infantile onset	867	CBL	OMIM:613563
HP:0003593	Infantile onset	85478	CCDC65	OMIM:615504
HP:0003593	Infantile onset	6597	SMARCA4	OMIM:613325
HP:0003593	Infantile onset	284119	CAVIN1	OMIM:613327
HP:0003593	Infantile onset	2554	GABRA1	OMIM:615744
HP:0003593	Infantile onset	137492	VPS37A	OMIM:614898
HP:0003593	Infantile onset	10695	CNPY3	OMIM:617929
HP:0003593	Infantile onset	5376	PMP22	OMIM:145900
HP:0003593	Infantile onset	1959	EGR2	OMIM:145900
HP:0003593	Infantile onset	57716	PRX	OMIM:145900
HP:0003593	Infantile onset	1738	DLD	OMIM:246900
HP:0003593	Infantile onset	201294	UNC13D	OMIM:608898
HP:0003593	Infantile onset	7080	NKX2-1	OMIM:118700
HP:0003593	Infantile onset	2982	GUCY1A1	OMIM:615750
HP:0003593	Infantile onset	5193	PEX12	OMIM:266510
HP:0003593	Infantile onset	100151683	RNU4ATAC	OMIM:210710
HP:0003593	Infantile onset	29926	GMPPA	OMIM:615510
HP:0003593	Infantile onset	9289	ADGRG1	OMIM:615752
HP:0003593	Infantile onset	8924	HERC2	OMIM:615516
HP:0003593	Infantile onset	3932	LCK	OMIM:615758
HP:0003593	Infantile onset	53616	ADAM22	OMIM:617933
HP:0003593	Infantile onset	7545	ZIC1	OMIM:616602
HP:0003593	Infantile onset	4803	NGF	OMIM:608654
HP:0003593	Infantile onset	6328	SCN3A	OMIM:617938
HP:0003593	Infantile onset	8626	TP63	OMIM:604292
HP:0003593	Infantile onset	27249	MMADHC	OMIM:277410
HP:0003593	Infantile onset	411	ARSB	OMIM:253200
HP:0003593	Infantile onset	54768	HYDIN	OMIM:608647
HP:0003593	Infantile onset	5443	POMC	OMIM:609734
HP:0003593	Infantile onset	55187	VPS13D	OMIM:607317
HP:0003593	Infantile onset	57526	PCDH19	OMIM:300088
HP:0003593	Infantile onset	5859	QARS1	OMIM:615760
HP:0003593	Infantile onset	55209	SETD5	OMIM:615761
HP:0003593	Infantile onset	5167	ENPP1	OMIM:615522
HP:0003593	Infantile onset	6813	STXBP2	OMIM:613101
HP:0003593	Infantile onset	58	ACTA1	OMIM:616852
HP:0003593	Infantile onset	79631	EFL1	OMIM:617941
HP:0003593	Infantile onset	7280	TUBB2A	OMIM:615763
HP:0003593	Infantile onset	5429	POLH	OMIM:278750
HP:0003593	Infantile onset	1825	DSC3	OMIM:613102
HP:0003593	Infantile onset	56997	COQ8A	OMIM:612016
HP:0003593	Infantile onset	91869	RFT1	OMIM:612015
HP:0003593	Infantile onset	59067	IL21	OMIM:615767
HP:0003593	Infantile onset	6301	SARS1	OMIM:617709
HP:0003593	Infantile onset	1644	DDC	OMIM:608643
HP:0003593	Infantile onset	1767	DNAH5	OMIM:608644
HP:0003593	Infantile onset	64221	ROBO3	OMIM:607313
HP:0003593	Infantile onset	26224	FBXL3	OMIM:606220
HP:0003593	Infantile onset	4763	NF1	OMIM:162200
HP:0003593	Infantile onset	4204	MECP2	OMIM:300055
HP:0003593	Infantile onset	51116	MRPS2	OMIM:617950
HP:0003593	Infantile onset	79572	ATP13A3	OMIM:265400
HP:0003593	Infantile onset	9512	PMPCB	OMIM:617954
HP:0003593	Infantile onset	5530	PPP3CA	OMIM:617711
HP:0003593	Infantile onset	6097	RORC	OMIM:616622
HP:0003593	Infantile onset	10352	WARS2	OMIM:617710
HP:0003593	Infantile onset	51206	GP6	OMIM:614201
HP:0003593	Infantile onset	2058	EPRS1	OMIM:617951
HP:0003593	Infantile onset	27315	PGAP2	OMIM:614207
HP:0003593	Infantile onset	26525	IL36RN	OMIM:614204
HP:0003593	Infantile onset	10095	ARPC1B	OMIM:617718
HP:0003593	Infantile onset	9056	SLC7A7	OMIM:222700
HP:0003593	Infantile onset	2324	FLT4	OMIM:602089
HP:0003593	Infantile onset	84168	ANTXR1	OMIM:602089
HP:0003593	Infantile onset	3791	KDR	OMIM:602089
HP:0003593	Infantile onset	1641	DCX	OMIM:300067
HP:0003593	Infantile onset	163183	SYNE4	OMIM:615540
HP:0003593	Infantile onset	80185	TTI2	OMIM:615541
HP:0003593	Infantile onset	55780	ERMARD	OMIM:615544
HP:0003593	Infantile onset	7289	TULP3	OMIM:619902
HP:0003593	Infantile onset	54664	TMEM106B	OMIM:617964
HP:0003593	Infantile onset	7421	VDR	OMIM:277440
HP:0003593	Infantile onset	1729	DIAPH1	OMIM:616632
HP:0003593	Infantile onset	6773	STAT2	OMIM:616636
HP:0003593	Infantile onset	54551	MAGEL2	OMIM:615547
HP:0003593	Infantile onset	27010	TPK1	OMIM:614458
HP:0003593	Infantile onset	6444	SGCD	OMIM:606685
HP:0003593	Infantile onset	7074	TIAM1	OMIM:619908
HP:0003593	Infantile onset	51128	SAR1B	OMIM:246700
HP:0003593	Infantile onset	10269	ZMPSTE24	OMIM:608612
HP:0003593	Infantile onset	112858	TP53RK	OMIM:617730
HP:0003593	Infantile onset	11280	SCN11A	OMIM:615552
HP:0003593	Infantile onset	51501	HIKESHI	OMIM:616881
HP:0003593	Infantile onset	57468	SLC12A5	OMIM:616645
HP:0003593	Infantile onset	10815	CPLX1	OMIM:617976
HP:0003593	Infantile onset	3747	KCNC2	OMIM:619913
HP:0003593	Infantile onset	2588	GALNS	OMIM:253000
HP:0003593	Infantile onset	84617	TUBB6	OMIM:617732
HP:0003593	Infantile onset	6531	SLC6A3	OMIM:613135
HP:0003593	Infantile onset	490	ATP2B1	OMIM:619910
HP:0003593	Infantile onset	3704	ITPA	OMIM:616647
HP:0003593	Infantile onset	5205	ATP8B1	OMIM:211600
HP:0003593	Infantile onset	4929	NR4A2	OMIM:619911
HP:0003593	Infantile onset	338	APOB	OMIM:615558
HP:0003593	Infantile onset	56270	WDR45B	OMIM:617977
HP:0003593	Infantile onset	1917	EEF1A2	OMIM:616409
HP:0003593	Infantile onset	23209	MLC1	OMIM:604004
HP:0003593	Infantile onset	2316	FLNA	OMIM:300048
HP:0003593	Infantile onset	368	ABCC6	OMIM:614473
HP:0003593	Infantile onset	5788	PTPRC	OMIM:619924
HP:0003593	Infantile onset	4780	NFE2L2	OMIM:617744
HP:0003593	Infantile onset	79867	TCTN2	OMIM:616654
HP:0003593	Infantile onset	23310	NCAPD3	OMIM:617984
HP:0003593	Infantile onset	2890	GRIA1	OMIM:619927
HP:0003593	Infantile onset	2890	GRIA1	OMIM:619931
HP:0003593	Infantile onset	2741	GLRA1	OMIM:149400
HP:0003593	Infantile onset	10243	GPHN	OMIM:149400
HP:0003593	Infantile onset	54805	CNNM2	OMIM:616418
HP:0003593	Infantile onset	55164	SHQ1	OMIM:619921
HP:0003593	Infantile onset	55164	SHQ1	OMIM:619922
HP:0003593	Infantile onset	6509	SLC1A4	OMIM:616657
HP:0003593	Infantile onset	54676	GTPBP2	OMIM:617988
HP:0003593	Infantile onset	100506658	OCLN	OMIM:251290
HP:0003593	Infantile onset	9215	LARGE1	OMIM:608840
HP:0003593	Infantile onset	2273	FHL1	OMIM:300280
HP:0003593	Infantile onset	2819	GPD1	OMIM:614480
HP:0003593	Infantile onset	374462	PTPRQ	OMIM:613391
HP:0003593	Infantile onset	79934	COQ8B	OMIM:615573
HP:0003593	Infantile onset	5879	RAC1	OMIM:617751
HP:0003593	Infantile onset	440	ASNS	OMIM:615574
HP:0003593	Infantile onset	9197	SLC33A1	OMIM:614482
HP:0003593	Infantile onset	55023	PHIP	OMIM:617991
HP:0003593	Infantile onset	3454	IFNAR1	OMIM:619935
HP:0003593	Infantile onset	2990	GUSB	OMIM:253220
HP:0003593	Infantile onset	10585	POMT1	OMIM:613155
HP:0003593	Infantile onset	29954	POMT2	OMIM:613158
HP:0003593	Infantile onset	10939	AFG3L2	OMIM:614487
HP:0003593	Infantile onset	5718	PSMD12	OMIM:617516
HP:0003593	Infantile onset	51294	PCDH12	OMIM:251280
HP:0003593	Infantile onset	55812	SPATA7	OMIM:604232
HP:0003593	Infantile onset	6223	RPS19	OMIM:105650
HP:0003593	Infantile onset	2639	GCDH	OMIM:231670
HP:0003593	Infantile onset	4747	NEFL	OMIM:607734
HP:0003593	Infantile onset	51733	UPB1	OMIM:613161
HP:0003593	Infantile onset	101929726	MYMX	OMIM:619941
HP:0003593	Infantile onset	23404	EXOSC2	OMIM:617763
HP:0003593	Infantile onset	55331	ACER3	OMIM:617762
HP:0003593	Infantile onset	8803	SUCLA2	OMIM:612073
HP:0003593	Infantile onset	79587	CARS2	OMIM:616672
HP:0003593	Infantile onset	2697	GJA1	OMIM:617525
HP:0003593	Infantile onset	96459	FNIP1	OMIM:619705
HP:0003593	Infantile onset	1794	DOCK2	OMIM:616433
HP:0003593	Infantile onset	55753	OGDHL	OMIM:619701
HP:0003593	Infantile onset	126792	B3GALT6	OMIM:615349
HP:0003593	Infantile onset	58499	ZNF462	OMIM:618619
HP:0003593	Infantile onset	25974	MMACHC	OMIM:277400
HP:0003593	Infantile onset	5052	PRDX1	OMIM:277400
HP:0003593	Infantile onset	8328	GFI1B	OMIM:187900
HP:0003577	Congenital onset	3651	PDX1	OMIM:260370
HP:0003577	Congenital onset	3858	KRT10	OMIM:607602
HP:0003577	Congenital onset	55703	POLR3B	OMIM:614381
HP:0003577	Congenital onset	55703	POLR3B	OMIM:607694
HP:0003577	Congenital onset	23019	CNOT1	OMIM:618500
HP:0003577	Congenital onset	776	CACNA1D	OMIM:615474
HP:0003577	Congenital onset	776	CACNA1D	OMIM:614896
HP:0003577	Congenital onset	2304	FOXE1	OMIM:241850
HP:0003577	Congenital onset	5913	RAPSN	OMIM:616326
HP:0003577	Congenital onset	79827	CLMP	OMIM:615237
HP:0003577	Congenital onset	8573	CASK	OMIM:300908
HP:0003577	Congenital onset	2539	G6PD	OMIM:300908
HP:0003577	Congenital onset	7291	TWIST1	OMIM:123100
HP:0003577	Congenital onset	7291	TWIST1	OMIM:617746
HP:0003577	Congenital onset	1145	CHRNE	OMIM:616324
HP:0003577	Congenital onset	1145	CHRNE	OMIM:605809
HP:0003577	Congenital onset	7299	TYR	OMIM:203100
HP:0003577	Congenital onset	121391	KRT74	OMIM:194300
HP:0003577	Congenital onset	121391	KRT74	OMIM:614929
HP:0003577	Congenital onset	4897	NRCAM	OMIM:619833
HP:0003577	Congenital onset	1134	CHRNA1	OMIM:608930
HP:0003577	Congenital onset	91147	TMEM67	OMIM:602152
HP:0003577	Congenital onset	91147	TMEM67	OMIM:216360
HP:0003577	Congenital onset	10021	HCN4	OMIM:163800
HP:0003577	Congenital onset	23498	HAAO	OMIM:617660
HP:0003577	Congenital onset	9578	CDC42BPB	OMIM:619841
HP:0003577	Congenital onset	1855	DVL1	OMIM:616331
HP:0003577	Congenital onset	1855	DVL1	OMIM:180700
HP:0003577	Congenital onset	8942	KYNU	OMIM:617661
HP:0003577	Congenital onset	283489	CHAMP1	OMIM:616579
HP:0003577	Congenital onset	1841	DTYMK	OMIM:619847
HP:0003577	Congenital onset	478	ATP1A3	OMIM:619606
HP:0003577	Congenital onset	2137	EXTL3	OMIM:617425
HP:0003577	Congenital onset	166378	AFG2A	OMIM:616577
HP:0003577	Congenital onset	27229	TUBGCP4	OMIM:616335
HP:0003577	Congenital onset	341640	FREM2	OMIM:617666
HP:0003577	Congenital onset	84936	ZFYVE19	OMIM:619849
HP:0003577	Congenital onset	84466	MEGF10	OMIM:614399
HP:0003577	Congenital onset	25790	CFAP45	OMIM:619608
HP:0003577	Congenital onset	1288	COL4A6	OMIM:300914
HP:0003577	Congenital onset	3149	HMGB3	OMIM:300915
HP:0003577	Congenital onset	318	NUDT2	OMIM:619844
HP:0003577	Congenital onset	84197	POMK	OMIM:615249
HP:0003577	Congenital onset	16	AARS1	OMIM:616339
HP:0003577	Congenital onset	57545	CC2D2A	OMIM:619845
HP:0003577	Congenital onset	57545	CC2D2A	OMIM:619111
HP:0003577	Congenital onset	51112	TRAPPC12	OMIM:617669
HP:0003577	Congenital onset	3508	IGHMBP2	OMIM:604320
HP:0003577	Congenital onset	57082	KNL1	OMIM:604321
HP:0003577	Congenital onset	79693	YRDC	OMIM:619609
HP:0003577	Congenital onset	2188	FANCF	OMIM:603467
HP:0003577	Congenital onset	284403	WDR62	OMIM:604317
HP:0003577	Congenital onset	90	ACVR1	OMIM:135100
HP:0003577	Congenital onset	4646	MYO6	OMIM:607821
HP:0003577	Congenital onset	9071	CLDN10	OMIM:617671
HP:0003577	Congenital onset	1020	CDK5	OMIM:616342
HP:0003577	Congenital onset	1777	DNASE2	OMIM:619858
HP:0003577	Congenital onset	54567	DLL4	OMIM:616589
HP:0003577	Congenital onset	64359	NXN	OMIM:618529
HP:0003577	Congenital onset	7436	VLDLR	OMIM:224050
HP:0003577	Congenital onset	84100	ARL6	OMIM:209900
HP:0003577	Congenital onset	84100	ARL6	OMIM:600151
HP:0003577	Congenital onset	79140	CCDC28B	OMIM:209900
HP:0003577	Congenital onset	582	BBS1	OMIM:209900
HP:0003577	Congenital onset	79029	AFG2B	OMIM:619615
HP:0003577	Congenital onset	1528	CYB5A	OMIM:250790
HP:0003577	Congenital onset	25778	DSTYK	OMIM:610805
HP:0003577	Congenital onset	26154	ABCA12	OMIM:601277
HP:0003577	Congenital onset	26154	ABCA12	OMIM:242500
HP:0003577	Congenital onset	4620	MYH2	OMIM:605637
HP:0003577	Congenital onset	9401	RECQL4	OMIM:218600
HP:0003577	Congenital onset	857	CAV1	OMIM:606721
HP:0003577	Congenital onset	10484	SEC23A	OMIM:607812
HP:0003577	Congenital onset	6926	TBX3	OMIM:181450
HP:0003577	Congenital onset	204219	CERS3	OMIM:615023
HP:0003577	Congenital onset	285848	PNPLA1	OMIM:615024
HP:0003577	Congenital onset	23327	NEDD4L	OMIM:617201
HP:0003577	Congenital onset	7092	TLL1	OMIM:613087
HP:0003577	Congenital onset	8550	MAPKAPK5	OMIM:619869
HP:0003577	Congenital onset	168507	PKD1L1	OMIM:617205
HP:0003577	Congenital onset	51761	ATP8A2	OMIM:615268
HP:0003577	Congenital onset	1474	CST6	OMIM:618535
HP:0003577	Congenital onset	6905	TBCE	OMIM:617207
HP:0003577	Congenital onset	6905	TBCE	OMIM:241410
HP:0003577	Congenital onset	5373	PMM2	OMIM:212065
HP:0003577	Congenital onset	63901	FAM111A	OMIM:602361
HP:0003577	Congenital onset	54345	SOX18	OMIM:137940
HP:0003577	Congenital onset	126410	CYP4F22	OMIM:604777
HP:0003577	Congenital onset	5337	PLD1	OMIM:212093
HP:0003577	Congenital onset	5317	PKP1	OMIM:604536
HP:0003577	Congenital onset	57822	GRHL3	OMIM:606713
HP:0003577	Congenital onset	59341	TRPV4	OMIM:600175
HP:0003577	Congenital onset	59341	TRPV4	OMIM:606071
HP:0003577	Congenital onset	1187	CLCNKA	OMIM:613090
HP:0003577	Congenital onset	1188	CLCNKB	OMIM:613090
HP:0003577	Congenital onset	1188	CLCNKB	OMIM:607364
HP:0003577	Congenital onset	2072	ERCC4	OMIM:615272
HP:0003577	Congenital onset	113612	CYP2U1	OMIM:615030
HP:0003577	Congenital onset	1186	CLCN7	OMIM:618541
HP:0003577	Congenital onset	1770	DNAH9	OMIM:618300
HP:0003577	Congenital onset	4284	MIP	OMIM:615274
HP:0003577	Congenital onset	23126	POGZ	OMIM:616364
HP:0003577	Congenital onset	55773	TBC1D23	OMIM:617695
HP:0003577	Congenital onset	5314	PKHD1	OMIM:263200
HP:0003577	Congenital onset	8558	CDK10	OMIM:617694
HP:0003577	Congenital onset	808	CALM3	OMIM:618782
HP:0003577	Congenital onset	57167	SALL4	OMIM:147750
HP:0003577	Congenital onset	57167	SALL4	OMIM:607323
HP:0003577	Congenital onset	55280	CWF19L1	OMIM:616127
HP:0003577	Congenital onset	27125	AFF4	OMIM:616368
HP:0003577	Congenital onset	1909	EDNRA	OMIM:616367
HP:0003577	Congenital onset	79770	TXNDC15	OMIM:619879
HP:0003577	Congenital onset	5727	PTCH1	OMIM:610828
HP:0003577	Congenital onset	10329	RXYLT1	OMIM:615041
HP:0003577	Congenital onset	8818	DPM2	OMIM:615042
HP:0003577	Congenital onset	30813	VSX1	OMIM:614195
HP:0003577	Congenital onset	56098	PCDHGC4	OMIM:619880
HP:0003577	Congenital onset	641	BLM	OMIM:210900
HP:0003577	Congenital onset	2263	FGFR2	OMIM:123790
HP:0003577	Congenital onset	2263	FGFR2	OMIM:614592
HP:0003577	Congenital onset	2263	FGFR2	OMIM:101200
HP:0003577	Congenital onset	2674	GFRA1	OMIM:619887
HP:0003577	Congenital onset	9772	TMEM94	OMIM:618316
HP:0003577	Congenital onset	79971	WLS	OMIM:619648
HP:0003577	Congenital onset	57688	ZSWIM6	OMIM:603671
HP:0003577	Congenital onset	1910	EDNRB	OMIM:600155
HP:0003577	Congenital onset	1910	EDNRB	OMIM:600501
HP:0003577	Congenital onset	3861	KRT14	OMIM:601001
HP:0003577	Congenital onset	3861	KRT14	OMIM:131760
HP:0003577	Congenital onset	442721	LMOD2	OMIM:619897
HP:0003577	Congenital onset	3798	KIF5A	OMIM:617235
HP:0003577	Congenital onset	23483	TGDS	OMIM:616145
HP:0003577	Congenital onset	6603	SMARCD2	OMIM:617475
HP:0003577	Congenital onset	285203	EOGT	OMIM:615297
HP:0003577	Congenital onset	125988	MICOS13	OMIM:618329
HP:0003577	Congenital onset	64919	BCL11B	OMIM:617237
HP:0003577	Congenital onset	4087	SMAD2	OMIM:619657
HP:0003577	Congenital onset	6533	SLC6A6	OMIM:145350
HP:0003577	Congenital onset	2744	GLS	OMIM:618328
HP:0003577	Congenital onset	3339	HSPG2	OMIM:255800
HP:0003577	Congenital onset	3339	HSPG2	OMIM:224410
HP:0003577	Congenital onset	79648	MCPH1	OMIM:251200
HP:0003577	Congenital onset	81839	VANGL1	OMIM:600145
HP:0003577	Congenital onset	2071	ERCC3	OMIM:616390
HP:0003577	Congenital onset	85300	ATCAY	OMIM:601238
HP:0003577	Congenital onset	404672	GTF2H5	OMIM:616395
HP:0003577	Congenital onset	1917	EEF1A2	OMIM:616393
HP:0003577	Congenital onset	9742	IFT140	OMIM:266920
HP:0003577	Congenital onset	205327	C2orf69	OMIM:619423
HP:0003577	Congenital onset	58497	PRUNE1	OMIM:617481
HP:0003577	Congenital onset	54101	RIPK4	OMIM:263650
HP:0003577	Congenital onset	9427	ECEL1	OMIM:615065
HP:0003577	Congenital onset	5888	RAD51	OMIM:617244
HP:0003577	Congenital onset	22930	RAB3GAP1	OMIM:619420
HP:0003577	Congenital onset	4286	MITF	OMIM:103500
HP:0003577	Congenital onset	4286	MITF	OMIM:617306
HP:0003577	Congenital onset	4286	MITF	OMIM:193510
HP:0003577	Congenital onset	7516	XRCC2	OMIM:617247
HP:0003577	Congenital onset	64132	XYLT2	OMIM:605822
HP:0003577	Congenital onset	2074	ERCC6	OMIM:133540
HP:0003577	Congenital onset	2074	ERCC6	OMIM:214150
HP:0003577	Congenital onset	2243	FGA	OMIM:202400
HP:0003577	Congenital onset	2244	FGB	OMIM:202400
HP:0003577	Congenital onset	2266	FGG	OMIM:202400
HP:0003577	Congenital onset	6134	RPL10	OMIM:300998
HP:0003577	Congenital onset	8925	HERC1	OMIM:617011
HP:0003577	Congenital onset	1281	COL3A1	OMIM:618343
HP:0003577	Congenital onset	10785	WDR4	OMIM:618346
HP:0003577	Congenital onset	10046	MAMLD1	OMIM:300758
HP:0003577	Congenital onset	72	ACTG2	OMIM:619431
HP:0003577	Congenital onset	56203	LMOD3	OMIM:616165
HP:0003577	Congenital onset	79912	PYROXD1	OMIM:617258
HP:0003577	Congenital onset	1798	DPAGT1	OMIM:608093
HP:0003577	Congenital onset	5309	PITX3	OMIM:610623
HP:0003577	Congenital onset	4838	NODAL	OMIM:270100
HP:0003577	Congenital onset	7681	MKRN3	OMIM:176270
HP:0003577	Congenital onset	3653	IPW	OMIM:176270
HP:0003577	Congenital onset	54551	MAGEL2	OMIM:176270
HP:0003577	Congenital onset	54551	MAGEL2	OMIM:615547
HP:0003577	Congenital onset	791114	PWRN1	OMIM:176270
HP:0003577	Congenital onset	100033413	SNORD116-1	OMIM:176270
HP:0003577	Congenital onset	8924	HERC2	OMIM:176270
HP:0003577	Congenital onset	145624	PWAR1	OMIM:176270
HP:0003577	Congenital onset	23742	NPAP1	OMIM:176270
HP:0003577	Congenital onset	338433	SNORD115-1	OMIM:176270
HP:0003577	Congenital onset	56945	MRPS22	OMIM:611719
HP:0003577	Congenital onset	2706	GJB2	OMIM:602540
HP:0003577	Congenital onset	2706	GJB2	OMIM:149200
HP:0003577	Congenital onset	5575	PRKAR1B	OMIM:619680
HP:0003577	Congenital onset	10733	PLK4	OMIM:616171
HP:0003577	Congenital onset	7707	ZNF148	OMIM:617260
HP:0003577	Congenital onset	6299	SALL1	OMIM:107480
HP:0003577	Congenital onset	3728	JUP	OMIM:601214
HP:0003577	Congenital onset	6567	SLC16A2	OMIM:300523
HP:0003577	Congenital onset	1294	COL7A1	OMIM:226600
HP:0003577	Congenital onset	1294	COL7A1	OMIM:132000
HP:0003577	Congenital onset	1294	COL7A1	OMIM:131750
HP:0003577	Congenital onset	4312	MMP1	OMIM:226600
HP:0003577	Congenital onset	23395	LARS2	OMIM:617021
HP:0003577	Congenital onset	283989	TSEN54	OMIM:225753
HP:0003577	Congenital onset	283989	TSEN54	OMIM:610204
HP:0003577	Congenital onset	283989	TSEN54	OMIM:277470
HP:0003577	Congenital onset	116461	TSEN15	OMIM:617026
HP:0003577	Congenital onset	55262	TRAPPC14	OMIM:618351
HP:0003577	Congenital onset	114803	MYSM1	OMIM:618116
HP:0003577	Congenital onset	5660	PSAP	OMIM:611721
HP:0003577	Congenital onset	4041	LRP5	OMIM:259770
HP:0003577	Congenital onset	29954	POMT2	OMIM:236670
HP:0003577	Congenital onset	29954	POMT2	OMIM:613150
HP:0003577	Congenital onset	29954	POMT2	OMIM:613156
HP:0003577	Congenital onset	9215	LARGE1	OMIM:236670
HP:0003577	Congenital onset	9215	LARGE1	OMIM:613154
HP:0003577	Congenital onset	79147	FKRP	OMIM:236670
HP:0003577	Congenital onset	79147	FKRP	OMIM:606612
HP:0003577	Congenital onset	79147	FKRP	OMIM:613153
HP:0003577	Congenital onset	10585	POMT1	OMIM:236670
HP:0003577	Congenital onset	2218	FKTN	OMIM:236670
HP:0003577	Congenital onset	56975	FAM20C	OMIM:259775
HP:0003577	Congenital onset	57190	SELENON	OMIM:602771
HP:0003577	Congenital onset	55250	ELP2	OMIM:617270
HP:0003577	Congenital onset	2735	GLI1	OMIM:618123
HP:0003577	Congenital onset	8888	MCM3AP	OMIM:618124
HP:0003577	Congenital onset	63925	ZNF335	OMIM:615095
HP:0003577	Congenital onset	57007	ACKR3	OMIM:619215
HP:0003577	Congenital onset	4998	ORC1	OMIM:224690
HP:0003577	Congenital onset	1621	DBH	OMIM:223360
HP:0003577	Congenital onset	4052	LTBP1	OMIM:619451
HP:0003577	Congenital onset	7021	TFAP2B	OMIM:617035
HP:0003577	Congenital onset	81788	NUAK2	OMIM:619452
HP:0003577	Congenital onset	27341	RRP7A	OMIM:619453
HP:0003577	Congenital onset	8120	AP3B2	OMIM:617276
HP:0003577	Congenital onset	2019	EN1	OMIM:619218
HP:0003577	Congenital onset	1009	CDH11	OMIM:211380
HP:0003577	Congenital onset	1009	CDH11	OMIM:619736
HP:0003577	Congenital onset	4627	MYH9	OMIM:155100
HP:0003577	Congenital onset	7401	CLRN1	OMIM:276902
HP:0003577	Congenital onset	7809	BSND	OMIM:602522
HP:0003577	Congenital onset	1277	COL1A1	OMIM:130060
HP:0003577	Congenital onset	7086	TKT	OMIM:617044
HP:0003577	Congenital onset	6390	SDHB	OMIM:619224
HP:0003577	Congenital onset	2009	EML1	OMIM:600348
HP:0003577	Congenital onset	11342	RNF13	OMIM:618379
HP:0003577	Congenital onset	127833	SYT2	OMIM:619461
HP:0003577	Congenital onset	84705	GTPBP3	OMIM:616198
HP:0003577	Congenital onset	4613	MYCN	OMIM:164280
HP:0003577	Congenital onset	9971	NR1H4	OMIM:617049
HP:0003577	Congenital onset	208	AKT2	OMIM:240900
HP:0003577	Congenital onset	220296	HEPACAM	OMIM:613925
HP:0003577	Congenital onset	220296	HEPACAM	OMIM:613926
HP:0003577	Congenital onset	50801	KCNK4	OMIM:618381
HP:0003577	Congenital onset	26160	IFT172	OMIM:619471
HP:0003577	Congenital onset	4158	MC2R	OMIM:202200
HP:0003577	Congenital onset	65250	CPLANE1	OMIM:277170
HP:0003577	Congenital onset	8991	SELENBP1	OMIM:618148
HP:0003577	Congenital onset	54800	KLHL24	OMIM:617294
HP:0003577	Congenital onset	3914	LAMB3	OMIM:226650
HP:0003577	Congenital onset	3914	LAMB3	OMIM:226700
HP:0003577	Congenital onset	10526	IPO8	OMIM:619472
HP:0003577	Congenital onset	348180	CTU2	OMIM:618142
HP:0003577	Congenital onset	54539	NDUFB11	OMIM:300952
HP:0003577	Congenital onset	54539	NDUFB11	OMIM:301021
HP:0003577	Congenital onset	54539	NDUFB11	OMIM:309801
HP:0003577	Congenital onset	7737	RNF113A	OMIM:300953
HP:0003577	Congenital onset	92002	CCNQ	OMIM:300707
HP:0003577	Congenital onset	79574	EPS8L3	OMIM:612841
HP:0003577	Congenital onset	84196	USP48	OMIM:620227
HP:0003577	Congenital onset	6608	SMO	OMIM:241800
HP:0003577	Congenital onset	6608	SMO	OMIM:601707
HP:0003577	Congenital onset	10413	YAP1	OMIM:120433
HP:0003577	Congenital onset	2006	ELN	OMIM:123700
HP:0003577	Congenital onset	3248	HPGD	OMIM:259100
HP:0003577	Congenital onset	3248	HPGD	OMIM:119900
HP:0003577	Congenital onset	63895	PIEZO2	OMIM:108145
HP:0003577	Congenital onset	63895	PIEZO2	OMIM:248700
HP:0003577	Congenital onset	1412	CRYBA2	OMIM:115900
HP:0003577	Congenital onset	25839	COG4	OMIM:618150
HP:0003577	Congenital onset	4927	NUP88	OMIM:618393
HP:0003577	Congenital onset	51360	MBTPS2	OMIM:308205
HP:0003577	Congenital onset	3636	INPPL1	OMIM:258480
HP:0003577	Congenital onset	9325	TRIP4	OMIM:617066
HP:0003577	Congenital onset	9325	TRIP4	OMIM:616866
HP:0003577	Congenital onset	6872	TAF1	OMIM:300966
HP:0003577	Congenital onset	60558	GUF1	OMIM:617065
HP:0003577	Congenital onset	2324	FLT4	OMIM:153100
HP:0003577	Congenital onset	158326	FREM1	OMIM:248450
HP:0003577	Congenital onset	8318	CDC45	OMIM:617063
HP:0003577	Congenital onset	55640	FLVCR2	OMIM:225790
HP:0003577	Congenital onset	23233	EXOC6B	OMIM:618395
HP:0003577	Congenital onset	9508	ADAMTS3	OMIM:618154
HP:0003577	Congenital onset	91875	TTC5	OMIM:619244
HP:0003577	Congenital onset	84340	GFM2	OMIM:618397
HP:0003577	Congenital onset	4617	MYF5	OMIM:618155
HP:0003577	Congenital onset	134353	LSM11	OMIM:619486
HP:0003577	Congenital onset	100127206	MINAR2	OMIM:620238
HP:0003577	Congenital onset	57038	RARS2	OMIM:611523
HP:0003577	Congenital onset	50485	SMARCAL1	OMIM:242900
HP:0003577	Congenital onset	7341	SUMO1	OMIM:613705
HP:0003577	Congenital onset	9573	GDF3	OMIM:613704
HP:0003577	Congenital onset	10551	AGR2	OMIM:620233
HP:0003577	Congenital onset	60386	SLC25A19	OMIM:607196
HP:0003577	Congenital onset	3766	KCNJ10	OMIM:600791
HP:0003577	Congenital onset	2299	FOXI1	OMIM:600791
HP:0003577	Congenital onset	5172	SLC26A4	OMIM:600791
HP:0003577	Congenital onset	23387	SIK3	OMIM:618162
HP:0003577	Congenital onset	6748	SSR4	OMIM:300934
HP:0003577	Congenital onset	51168	MYO15A	OMIM:600316
HP:0003577	Congenital onset	84231	TRAF7	OMIM:618164
HP:0003577	Congenital onset	5339	PLEC	OMIM:226670
HP:0003577	Congenital onset	5339	PLEC	OMIM:226730
HP:0003577	Congenital onset	26276	VPS33B	OMIM:620009
HP:0003577	Congenital onset	26276	VPS33B	OMIM:208085
HP:0003577	Congenital onset	1908	EDN3	OMIM:613712
HP:0003577	Congenital onset	4094	MAF	OMIM:610202
HP:0003577	Congenital onset	2668	GDNF	OMIM:613711
HP:0003577	Congenital onset	1073	CFL2	OMIM:610687
HP:0003577	Congenital onset	3110	MNX1	OMIM:176450
HP:0003577	Congenital onset	253827	MSRB3	OMIM:613718
HP:0003577	Congenital onset	6599	SMARCC1	OMIM:620241
HP:0003577	Congenital onset	51082	POLR1D	OMIM:613717
HP:0003577	Congenital onset	10079	ATP9A	OMIM:620242
HP:0003577	Congenital onset	7474	WNT5A	OMIM:180700
HP:0003577	Congenital onset	54658	UGT1A1	OMIM:218800
HP:0003577	Congenital onset	2296	FOXC1	OMIM:601631
HP:0003577	Congenital onset	116150	NUS1	OMIM:617082
HP:0003577	Congenital onset	1893	ECM1	OMIM:247100
HP:0003577	Congenital onset	84842	HPDL	OMIM:619026
HP:0003577	Congenital onset	79023	NUP37	OMIM:618179
HP:0003577	Congenital onset	8516	ITGA8	OMIM:191830
HP:0003577	Congenital onset	90121	TSR2	OMIM:300946
HP:0003577	Congenital onset	51473	DCDC2	OMIM:610212
HP:0003577	Congenital onset	4233	MET	OMIM:620019
HP:0003577	Congenital onset	4233	MET	OMIM:607278
HP:0003577	Congenital onset	1414	CRYBB1	OMIM:611544
HP:0003577	Congenital onset	26123	TCTN3	OMIM:614815
HP:0003577	Congenital onset	27445	PCLO	OMIM:608027
HP:0003577	Congenital onset	29969	MDFIC	OMIM:620014
HP:0003577	Congenital onset	3516	RBPJ	OMIM:614814
HP:0003577	Congenital onset	80036	TRPM3	OMIM:620253
HP:0003577	Congenital onset	65055	REEP1	OMIM:620011
HP:0003577	Congenital onset	60529	ALX4	OMIM:609597
HP:0003577	Congenital onset	60529	ALX4	OMIM:613451
HP:0003577	Congenital onset	8085	KMT2D	OMIM:147920
HP:0003577	Congenital onset	7403	KDM6A	OMIM:147920
HP:0003577	Congenital onset	8323	FZD6	OMIM:161050
HP:0003577	Congenital onset	5393	EXOSC9	OMIM:618065
HP:0003577	Congenital onset	26128	KIFBP	OMIM:609460
HP:0003577	Congenital onset	673	BRAF	OMIM:115150
HP:0003577	Congenital onset	25821	MTO1	OMIM:614702
HP:0003577	Congenital onset	57539	WDR35	OMIM:613610
HP:0003577	Congenital onset	283310	OTOGL	OMIM:614944
HP:0003577	Congenital onset	3848	KRT1	OMIM:620148
HP:0003577	Congenital onset	3848	KRT1	OMIM:146590
HP:0003577	Congenital onset	3848	KRT1	OMIM:600962
HP:0003577	Congenital onset	340990	OTOG	OMIM:614945
HP:0003577	Congenital onset	1411	CRYBA1	OMIM:600881
HP:0003577	Congenital onset	57222	ERGIC1	OMIM:208100
HP:0003577	Congenital onset	89910	UBE3B	OMIM:244450
HP:0003577	Congenital onset	1638	DCT	OMIM:619165
HP:0003577	Congenital onset	3664	IRF6	OMIM:119500
HP:0003577	Congenital onset	3664	IRF6	OMIM:119300
HP:0003577	Congenital onset	6662	SOX9	OMIM:114290
HP:0003577	Congenital onset	26153	KIF26A	OMIM:620156
HP:0003577	Congenital onset	271	AMPD2	OMIM:615809
HP:0003577	Congenital onset	9382	COG1	OMIM:611209
HP:0003577	Congenital onset	1763	DNA2	OMIM:615807
HP:0003577	Congenital onset	7125	TNNC2	OMIM:620161
HP:0003577	Congenital onset	388698	FLG2	OMIM:618084
HP:0003577	Congenital onset	9241	NOG	OMIM:186570
HP:0003577	Congenital onset	146862	UNC45B	OMIM:619178
HP:0003577	Congenital onset	5119	CHMP1A	OMIM:614961
HP:0003577	Congenital onset	84876	ORAI1	OMIM:612782
HP:0003577	Congenital onset	220074	LRTOMT	OMIM:611451
HP:0003577	Congenital onset	50814	NSDHL	OMIM:308050
HP:0003577	Congenital onset	6261	RYR1	OMIM:255320
HP:0003577	Congenital onset	1889	ECE1	OMIM:613870
HP:0003577	Congenital onset	1801	DPH1	OMIM:616901
HP:0003577	Congenital onset	93627	TBCK	OMIM:616900
HP:0003577	Congenital onset	114034	TOE1	OMIM:614969
HP:0003577	Congenital onset	1509	CTSD	OMIM:610127
HP:0003577	Congenital onset	80254	CEP63	OMIM:614728
HP:0003577	Congenital onset	9570	GOSR2	OMIM:620166
HP:0003577	Congenital onset	80326	WNT10A	OMIM:257980
HP:0003577	Congenital onset	51057	WDPCP	OMIM:217085
HP:0003577	Congenital onset	10555	AGPAT2	OMIM:608594
HP:0003577	Congenital onset	5313	PKLR	OMIM:266200
HP:0003577	Congenital onset	1690	COCH	OMIM:618094
HP:0003577	Congenital onset	9750	RIPOR2	OMIM:607017
HP:0003577	Congenital onset	9750	RIPOR2	OMIM:616515
HP:0003577	Congenital onset	84823	LMNB2	OMIM:619180
HP:0003577	Congenital onset	6885	MAP3K7	OMIM:157800
HP:0003577	Congenital onset	55148	UBR7	OMIM:619189
HP:0003577	Congenital onset	7170	TPM3	OMIM:255310
HP:0003577	Congenital onset	79583	TMEM231	OMIM:614970
HP:0003577	Congenital onset	79583	TMEM231	OMIM:615397
HP:0003577	Congenital onset	23545	ATP6V0A2	OMIM:278250
HP:0003577	Congenital onset	1954	MEGF8	OMIM:614976
HP:0003577	Congenital onset	23314	SATB2	OMIM:612313
HP:0003577	Congenital onset	79867	TCTN2	OMIM:613885
HP:0003577	Congenital onset	79867	TCTN2	OMIM:616654
HP:0003577	Congenital onset	55636	CHD7	OMIM:214800
HP:0003577	Congenital onset	3070	HELLS	OMIM:616911
HP:0003577	Congenital onset	83879	CDCA7	OMIM:616910
HP:0003577	Congenital onset	25942	SIN3A	OMIM:613406
HP:0003577	Congenital onset	79053	ALG8	OMIM:608104
HP:0003577	Congenital onset	27245	AHDC1	OMIM:615829
HP:0003577	Congenital onset	6234	RPS28	OMIM:606164
HP:0003577	Congenital onset	699	BUB1	OMIM:620183
HP:0003577	Congenital onset	9653	HS2ST1	OMIM:619194
HP:0003577	Congenital onset	57217	TTC7A	OMIM:243150
HP:0003577	Congenital onset	1280	COL2A1	OMIM:151210
HP:0003577	Congenital onset	1280	COL2A1	OMIM:156550
HP:0003577	Congenital onset	1280	COL2A1	OMIM:271700
HP:0003577	Congenital onset	4593	MUSK	OMIM:208150
HP:0003577	Congenital onset	23118	TAB2	OMIM:614980
HP:0003577	Congenital onset	56006	SMG9	OMIM:616920
HP:0003577	Congenital onset	56006	SMG9	OMIM:619995
HP:0003577	Congenital onset	51660	MPC1	OMIM:614741
HP:0003577	Congenital onset	3211	HOXB1	OMIM:614744
HP:0003577	Congenital onset	25977	NECAP1	OMIM:615833
HP:0003577	Congenital onset	84720	PIGO	OMIM:614749
HP:0003577	Congenital onset	54499	TMCO1	OMIM:213980
HP:0003577	Congenital onset	11128	POLR3A	OMIM:264090
HP:0003577	Congenital onset	11128	POLR3A	OMIM:607694
HP:0003577	Congenital onset	3675	ITGA3	OMIM:614748
HP:0003577	Congenital onset	10907	TXNL4A	OMIM:608572
HP:0003577	Congenital onset	2255	FGF10	OMIM:620193
HP:0003577	Congenital onset	4036	LRP2	OMIM:222448
HP:0003577	Congenital onset	492	ATP2B3	OMIM:302500
HP:0003577	Congenital onset	8050	PDHX	OMIM:245349
HP:0003577	Congenital onset	1785	DNM2	OMIM:160150
HP:0003577	Congenital onset	1785	DNM2	OMIM:615368
HP:0003577	Congenital onset	64419	MTMR14	OMIM:160150
HP:0003577	Congenital onset	64327	LMBR1	OMIM:188740
HP:0003577	Congenital onset	153562	MARVELD2	OMIM:610153
HP:0003577	Congenital onset	8481	OFD1	OMIM:311200
HP:0003577	Congenital onset	8481	OFD1	OMIM:300209
HP:0003577	Congenital onset	64135	IFIH1	OMIM:615846
HP:0003577	Congenital onset	3708	ITPR1	OMIM:117360
HP:0003577	Congenital onset	3708	ITPR1	OMIM:206700
HP:0003577	Congenital onset	6331	SCN5A	OMIM:608567
HP:0003577	Congenital onset	2103	ESRRB	OMIM:608565
HP:0003577	Congenital onset	2535	FZD2	OMIM:164745
HP:0003577	Congenital onset	2652	OPN1MW	OMIM:303800
HP:0003577	Congenital onset	6949	TCOF1	OMIM:154500
HP:0003577	Congenital onset	10661	KLF1	OMIM:613673
HP:0003577	Congenital onset	55835	CENPJ	OMIM:613676
HP:0003577	Congenital onset	55835	CENPJ	OMIM:608393
HP:0003577	Congenital onset	2147	F2	OMIM:613679
HP:0003577	Congenital onset	1302	COL11A2	OMIM:614524
HP:0003577	Congenital onset	1302	COL11A2	OMIM:215150
HP:0003577	Congenital onset	3753	KCNE1	OMIM:612347
HP:0003577	Congenital onset	10682	EBP	OMIM:302960
HP:0003577	Congenital onset	171023	ASXL1	OMIM:605039
HP:0003577	Congenital onset	79228	THOC6	OMIM:613680
HP:0003577	Congenital onset	9276	COPB2	OMIM:617800
HP:0003577	Congenital onset	2033	EP300	OMIM:613684
HP:0003577	Congenital onset	2033	EP300	OMIM:180849
HP:0003577	Congenital onset	84667	HES7	OMIM:613686
HP:0003577	Congenital onset	3679	ITGA7	OMIM:613204
HP:0003577	Congenital onset	220136	CFAP53	OMIM:614779
HP:0003577	Congenital onset	7407	VARS1	OMIM:617802
HP:0003577	Congenital onset	9894	TELO2	OMIM:616954
HP:0003577	Congenital onset	80000	GREB1L	OMIM:617805
HP:0003577	Congenital onset	80000	GREB1L	OMIM:619274
HP:0003577	Congenital onset	5830	PEX5	OMIM:616716
HP:0003577	Congenital onset	23592	LEMD3	OMIM:166700
HP:0003577	Congenital onset	7490	WT1	OMIM:106210
HP:0003577	Congenital onset	7490	WT1	OMIM:608978
HP:0003577	Congenital onset	5080	PAX6	OMIM:106210
HP:0003577	Congenital onset	8518	ELP1	OMIM:223900
HP:0003577	Congenital onset	2261	FGFR3	OMIM:187600
HP:0003577	Congenital onset	2261	FGFR3	OMIM:616482
HP:0003577	Congenital onset	2261	FGFR3	OMIM:100800
HP:0003577	Congenital onset	91949	COG7	OMIM:608779
HP:0003577	Congenital onset	8243	SMC1A	OMIM:301044
HP:0003577	Congenital onset	64116	SLC39A8	OMIM:616721
HP:0003577	Congenital onset	1305	COL13A1	OMIM:616720
HP:0003577	Congenital onset	23394	ADNP	OMIM:615873
HP:0003577	Congenital onset	79848	CSPP1	OMIM:615636
HP:0003577	Congenital onset	1788	DNMT3A	OMIM:615879
HP:0003577	Congenital onset	10586	MAB21L2	OMIM:615877
HP:0003577	Congenital onset	55593	OTUD5	OMIM:301056
HP:0003577	Congenital onset	1837	DTNA	OMIM:604169
HP:0003577	Congenital onset	4854	NOTCH3	OMIM:130720
HP:0003577	Congenital onset	84162	BLTP1	OMIM:617822
HP:0003577	Congenital onset	10229	COQ7	OMIM:616733
HP:0003577	Congenital onset	1806	DPYD	OMIM:274270
HP:0003577	Congenital onset	1278	COL1A2	OMIM:617821
HP:0003577	Congenital onset	1278	COL1A2	OMIM:619120
HP:0003577	Congenital onset	83479	DDX59	OMIM:174300
HP:0003577	Congenital onset	6334	SCN8A	OMIM:614558
HP:0003577	Congenital onset	79644	SRD5A3	OMIM:612379
HP:0003577	Congenital onset	79644	SRD5A3	OMIM:612713
HP:0003577	Congenital onset	2162	F13A1	OMIM:613225
HP:0003577	Congenital onset	3097	HIVEP2	OMIM:616977
HP:0003577	Congenital onset	10982	MAPRE2	OMIM:616734
HP:0003577	Congenital onset	767	CA8	OMIM:613227
HP:0003577	Congenital onset	5048	PAFAH1B1	OMIM:607432
HP:0003577	Congenital onset	1959	EGR2	OMIM:605253
HP:0003577	Congenital onset	54820	NDE1	OMIM:605013
HP:0003577	Congenital onset	54820	NDE1	OMIM:614019
HP:0003577	Congenital onset	7547	ZIC3	OMIM:306955
HP:0003577	Congenital onset	10735	STAG2	OMIM:301022
HP:0003577	Congenital onset	55906	ZC4H2	OMIM:314580
HP:0003577	Congenital onset	54885	TBC1D8B	OMIM:301028
HP:0003577	Congenital onset	112802	KRT71	OMIM:615896
HP:0003577	Congenital onset	388753	COA6	OMIM:616501
HP:0003577	Congenital onset	493753	COA5	OMIM:616500
HP:0003577	Congenital onset	2165	F13B	OMIM:613235
HP:0003577	Congenital onset	545	ATR	OMIM:614564
HP:0003577	Congenital onset	80746	TSEN2	OMIM:612389
HP:0003577	Congenital onset	284086	NEK8	OMIM:615415
HP:0003577	Congenital onset	4047	LSS	OMIM:616509
HP:0003577	Congenital onset	4047	LSS	OMIM:618275
HP:0003577	Congenital onset	4047	LSS	OMIM:618840
HP:0003577	Congenital onset	259232	NALCN	OMIM:615419
HP:0003577	Congenital onset	259232	NALCN	OMIM:616266
HP:0003577	Congenital onset	55764	IFT122	OMIM:218330
HP:0003577	Congenital onset	3784	KCNQ1	OMIM:220400
HP:0003577	Congenital onset	5422	POLA1	OMIM:301030
HP:0003577	Congenital onset	7286	TUFT1	OMIM:607655
HP:0003577	Congenital onset	3479	IGF1	OMIM:608747
HP:0003577	Congenital onset	25	ABL1	OMIM:617602
HP:0003577	Congenital onset	5147	PDE6D	OMIM:615665
HP:0003577	Congenital onset	57511	COG6	OMIM:614576
HP:0003577	Congenital onset	57511	COG6	OMIM:615328
HP:0003577	Congenital onset	2260	FGFR1	OMIM:613001
HP:0003577	Congenital onset	2260	FGFR1	OMIM:190440
HP:0003577	Congenital onset	128637	TBC1D20	OMIM:615663
HP:0003577	Congenital onset	29980	DONSON	OMIM:617604
HP:0003577	Congenital onset	29980	DONSON	OMIM:251230
HP:0003577	Congenital onset	8195	MKKS	OMIM:605231
HP:0003577	Congenital onset	64840	PORCN	OMIM:305600
HP:0003577	Congenital onset	200879	LIPH	OMIM:604379
HP:0003577	Congenital onset	2703	GJA8	OMIM:116200
HP:0003577	Congenital onset	26580	BSCL2	OMIM:269700
HP:0003577	Congenital onset	8929	PHOX2B	OMIM:209880
HP:0003577	Congenital onset	1103	CHAT	OMIM:254210
HP:0003577	Congenital onset	1859	DYRK1A	OMIM:614104
HP:0003577	Congenital onset	5333	PLCD1	OMIM:151600
HP:0003577	Congenital onset	117581	TWIST2	OMIM:209885
HP:0003577	Congenital onset	117581	TWIST2	OMIM:200110
HP:0003577	Congenital onset	80781	COL18A1	OMIM:267750
HP:0003577	Congenital onset	4148	MATN3	OMIM:608728
HP:0003577	Congenital onset	286410	ATP11C	OMIM:301015
HP:0003577	Congenital onset	3955	LFNG	OMIM:609813
HP:0003577	Congenital onset	59344	ALOXE3	OMIM:606545
HP:0003577	Congenital onset	59344	ALOXE3	OMIM:242100
HP:0003577	Congenital onset	4893	NRAS	OMIM:137550
HP:0003577	Congenital onset	3265	HRAS	OMIM:137550
HP:0003577	Congenital onset	1836	SLC26A2	OMIM:222600
HP:0003577	Congenital onset	1836	SLC26A2	OMIM:600972
HP:0003577	Congenital onset	55617	TASP1	OMIM:618950
HP:0003577	Congenital onset	27031	NPHP3	OMIM:208540
HP:0003577	Congenital onset	114928	GPRASP2	OMIM:301018
HP:0003577	Congenital onset	3098	HK1	OMIM:235700
HP:0003577	Congenital onset	491	ATP2B2	OMIM:619804
HP:0003577	Congenital onset	80210	ARMC9	OMIM:617622
HP:0003577	Congenital onset	2625	GATA3	OMIM:146255
HP:0003577	Congenital onset	526	ATP6V1B2	OMIM:124480
HP:0003577	Congenital onset	8292	COLQ	OMIM:603034
HP:0003577	Congenital onset	617	BCS1L	OMIM:124000
HP:0003577	Congenital onset	925	CD8A	OMIM:608957
HP:0003577	Congenital onset	259266	ASPM	OMIM:608716
HP:0003577	Congenital onset	153241	CEP120	OMIM:616300
HP:0003577	Congenital onset	23247	KATNIP	OMIM:616784
HP:0003577	Congenital onset	2737	GLI3	OMIM:174700
HP:0003577	Congenital onset	2737	GLI3	OMIM:174200
HP:0003577	Congenital onset	9786	KIAA0586	OMIM:616546
HP:0003577	Congenital onset	4038	LRP4	OMIM:616304
HP:0003577	Congenital onset	4038	LRP4	OMIM:212780
HP:0003577	Congenital onset	10274	STAG1	OMIM:617635
HP:0003577	Congenital onset	387	RHOA	OMIM:618727
HP:0003577	Congenital onset	3691	ITGB4	OMIM:619816
HP:0003577	Congenital onset	3691	ITGB4	OMIM:226730
HP:0003577	Congenital onset	3655	ITGA6	OMIM:619817
HP:0003577	Congenital onset	8777	MPDZ	OMIM:615219
HP:0003577	Congenital onset	10383	TUBB4B	OMIM:617879
HP:0003577	Congenital onset	81570	CLPB	OMIM:619813
HP:0003577	Congenital onset	81570	CLPB	OMIM:616271
HP:0003577	Congenital onset	9939	RBM8A	OMIM:274000
HP:0003577	Congenital onset	6496	SIX3	OMIM:157170
HP:0003577	Congenital onset	3908	LAMA2	OMIM:607855
HP:0003577	Congenital onset	23288	IQCE	OMIM:617642
HP:0003577	Congenital onset	1804	DPP6	OMIM:616311
HP:0003577	Congenital onset	57728	WDR19	OMIM:614378
HP:0003577	Congenital onset	57728	WDR19	OMIM:614376
HP:0003577	Congenital onset	51763	INPP5K	OMIM:617404
HP:0003577	Congenital onset	7700	ZNF141	OMIM:615226
HP:0003577	Congenital onset	1140	CHRNB1	OMIM:616314
HP:0003577	Congenital onset	1140	CHRNB1	OMIM:616313
HP:0003577	Congenital onset	529	ATP6V1E1	OMIM:617402
HP:0003577	Congenital onset	6155	RPL27	OMIM:617408
HP:0003577	Congenital onset	498	ATP5F1A	OMIM:615228
HP:0003577	Congenital onset	498	ATP5F1A	OMIM:616045
HP:0003577	Congenital onset	255758	DYNLT2B	OMIM:617405
HP:0003577	Congenital onset	9381	OTOF	OMIM:601071
HP:0003577	Congenital onset	64699	TMPRSS3	OMIM:601072
HP:0003577	Congenital onset	352909	DNAAF3	OMIM:606763
HP:0003577	Congenital onset	246329	STAC3	OMIM:255995
HP:0003577	Congenital onset	23141	ANKLE2	OMIM:616681
HP:0003577	Congenital onset	10617	STAMBP	OMIM:614261
HP:0003577	Congenital onset	29925	GMPPB	OMIM:615350
HP:0003577	Congenital onset	29925	GMPPB	OMIM:615351
HP:0003577	Congenital onset	29925	GMPPB	OMIM:615352
HP:0003577	Congenital onset	9853	RUSC2	OMIM:617773
HP:0003577	Congenital onset	91754	NEK9	OMIM:614262
HP:0003577	Congenital onset	2132	EXT2	OMIM:616682
HP:0003577	Congenital onset	3783	KCNN4	OMIM:616689
HP:0003577	Congenital onset	8425	LTBP4	OMIM:613177
HP:0003577	Congenital onset	220	ALDH1A3	OMIM:615113
HP:0003577	Congenital onset	10054	UBA2	OMIM:619959
HP:0003577	Congenital onset	2972	BRF1	OMIM:616202
HP:0003577	Congenital onset	8710	SERPINB7	OMIM:615598
HP:0003577	Congenital onset	6938	TCF12	OMIM:619718
HP:0003577	Congenital onset	81857	MED25	OMIM:616449
HP:0003577	Congenital onset	3008	H1-4	OMIM:617537
HP:0003577	Congenital onset	755	CFAP410	OMIM:602271
HP:0003577	Congenital onset	10060	ABCC9	OMIM:619719
HP:0003577	Congenital onset	64220	STRA6	OMIM:601186
HP:0003577	Congenital onset	6720	SREBF1	OMIM:158310
HP:0003577	Congenital onset	7849	PAX8	OMIM:218700
HP:0003577	Congenital onset	267010	RNU12	OMIM:603116
HP:0003577	Congenital onset	10300	KATNB1	OMIM:616212
HP:0003577	Congenital onset	6536	SLC6A9	OMIM:617301
HP:0003577	Congenital onset	55159	RFWD3	OMIM:617784
HP:0003577	Congenital onset	1630	DCC	OMIM:617542
HP:0003577	Congenital onset	2050	EPHB4	OMIM:617300
HP:0003577	Congenital onset	2201	FBN2	OMIM:121050
HP:0003577	Congenital onset	84570	COL25A1	OMIM:616219
HP:0003577	Congenital onset	10381	TUBB3	OMIM:614039
HP:0003577	Congenital onset	28960	DCPS	OMIM:616459
HP:0003577	Congenital onset	54332	GDAP1	OMIM:607706
HP:0003577	Congenital onset	220202	ATOH7	OMIM:221900
HP:0003577	Congenital onset	2626	GATA4	OMIM:607941
HP:0003577	Congenital onset	2626	GATA4	OMIM:614429
HP:0003577	Congenital onset	2626	GATA4	OMIM:614430
HP:0003577	Congenital onset	2626	GATA4	OMIM:615542
HP:0003577	Congenital onset	54	ACP5	OMIM:607944
HP:0003577	Congenital onset	9289	ADGRG1	OMIM:606854
HP:0003577	Congenital onset	55870	ASH1L	OMIM:617796
HP:0003577	Congenital onset	25885	POLR1A	OMIM:616462
HP:0003577	Congenital onset	9469	CHST3	OMIM:143095
HP:0003577	Congenital onset	816	CAMK2B	OMIM:617799
HP:0003577	Congenital onset	7528	YY1	OMIM:617557
HP:0003577	Congenital onset	56172	ANKH	OMIM:123000
HP:0003577	Congenital onset	9581	PREPL	OMIM:616224
HP:0003577	Congenital onset	5426	POLE	OMIM:615139
HP:0003577	Congenital onset	90993	CREB3L1	OMIM:616229
HP:0003577	Congenital onset	170825	GSX2	OMIM:618646
HP:0003577	Congenital onset	21	ABCA3	OMIM:610921
HP:0003577	Congenital onset	8726	EED	OMIM:617561
HP:0003577	Congenital onset	203286	ANKS6	OMIM:615382
HP:0003577	Congenital onset	54968	TMEM70	OMIM:614052
HP:0003577	Congenital onset	497661	C18orf32	OMIM:619985
HP:0003577	Congenital onset	1301	COL11A1	OMIM:228520
HP:0003577	Congenital onset	55714	TENM3	OMIM:615145
HP:0003577	Congenital onset	84314	TMEM107	OMIM:617563
HP:0003577	Congenital onset	269	AMHR2	OMIM:261550
HP:0003577	Congenital onset	268	AMH	OMIM:261550
HP:0003577	Congenital onset	56992	KIF15	OMIM:619981
HP:0003577	Congenital onset	55012	PPP2R3C	OMIM:618419
HP:0003577	Congenital onset	55521	TRIM36	OMIM:206500
HP:0003577	Congenital onset	4632	MYL1	OMIM:618414
HP:0003577	Congenital onset	200734	SPRED2	OMIM:619745
HP:0003577	Congenital onset	23268	DNMBP	OMIM:618415
HP:0003577	Congenital onset	8642	DCHS1	OMIM:601390
HP:0003577	Congenital onset	4647	MYO7A	OMIM:600060
HP:0003577	Congenital onset	8241	RBM10	OMIM:311900
HP:0003577	Congenital onset	6820	SULT2B1	OMIM:617571
HP:0003577	Congenital onset	23312	DMXL2	OMIM:618663
HP:0003577	Congenital onset	83861	RSPH3	OMIM:616481
HP:0003577	Congenital onset	10717	AP4B1	OMIM:614066
HP:0003577	Congenital onset	1349	COX7B	OMIM:309801
HP:0003577	Congenital onset	3052	HCCS	OMIM:309801
HP:0003577	Congenital onset	84879	MFSD2A	OMIM:616486
HP:0003577	Congenital onset	51604	PIGT	OMIM:615398
HP:0003577	Congenital onset	7862	BRPF1	OMIM:617333
HP:0003577	Congenital onset	121214	SDR9C7	OMIM:617574
HP:0003577	Congenital onset	54914	FOCAD	OMIM:619991
HP:0003577	Congenital onset	55699	IARS2	OMIM:616007
HP:0003577	Congenital onset	8363	H4C11	OMIM:619759
HP:0003577	Congenital onset	1001	CDH3	OMIM:225280
HP:0003577	Congenital onset	9453	GGPS1	OMIM:619518
HP:0003577	Congenital onset	3481	IGF2	OMIM:616489
HP:0003577	Congenital onset	6023	RMRP	OMIM:250250
HP:0003577	Congenital onset	6023	RMRP	OMIM:607095
HP:0003577	Congenital onset	9841	ZBTB24	OMIM:614069
HP:0003577	Congenital onset	8364	H4C3	OMIM:619758
HP:0003577	Congenital onset	145258	GSC	OMIM:602471
HP:0003577	Congenital onset	2248	FGF3	OMIM:610706
HP:0003577	Congenital onset	26137	ZBTB20	OMIM:259050
HP:0003577	Congenital onset	8314	BAP1	OMIM:619762
HP:0003577	Congenital onset	388552	BLOC1S3	OMIM:614077
HP:0003577	Congenital onset	54928	BPNT2	OMIM:614078
HP:0003577	Congenital onset	51098	IFT52	OMIM:617102
HP:0003577	Congenital onset	53335	BCL11A	OMIM:617101
HP:0003577	Congenital onset	9158	FIBP	OMIM:617107
HP:0003577	Congenital onset	773	CACNA1A	OMIM:617106
HP:0003577	Congenital onset	7140	TNNT3	OMIM:618435
HP:0003577	Congenital onset	4763	NF1	OMIM:193520
HP:0003577	Congenital onset	2542	SLC37A4	OMIM:619525
HP:0003577	Congenital onset	6117	RPA1	OMIM:619767
HP:0003577	Congenital onset	51341	ZBTB7A	OMIM:619769
HP:0003577	Congenital onset	2316	FLNA	OMIM:304120
HP:0003577	Congenital onset	57724	EPG5	OMIM:242840
HP:0003577	Congenital onset	147409	DSG4	OMIM:607903
HP:0003577	Congenital onset	23556	PIGN	OMIM:614080
HP:0003577	Congenital onset	4621	MYH3	OMIM:178110
HP:0003577	Congenital onset	51651	PTRH2	OMIM:616263
HP:0003577	Congenital onset	55120	FANCL	OMIM:614083
HP:0003577	Congenital onset	79989	IFT56	OMIM:619534
HP:0003577	Congenital onset	339855	KY	OMIM:617114
HP:0003577	Congenital onset	57479	PRR12	OMIM:619539
HP:0003577	Congenital onset	5818	NECTIN1	OMIM:225060
HP:0003577	Congenital onset	4851	NOTCH1	OMIM:616028
HP:0003577	Congenital onset	7994	KAT6A	OMIM:616268
HP:0003577	Congenital onset	23189	KANK1	OMIM:612900
HP:0003577	Congenital onset	9896	FIG4	OMIM:216340
HP:0003577	Congenital onset	9896	FIG4	OMIM:612691
HP:0003577	Congenital onset	10195	ALG3	OMIM:601110
HP:0003577	Congenital onset	3730	ANOS1	OMIM:308700
HP:0003577	Congenital onset	148789	B3GALNT2	OMIM:615181
HP:0003577	Congenital onset	1749	DLX5	OMIM:220600
HP:0003577	Congenital onset	3845	KRAS	OMIM:600268
HP:0003577	Congenital onset	3845	KRAS	OMIM:609942
HP:0003577	Congenital onset	54903	MKS1	OMIM:617121
HP:0003577	Congenital onset	3909	LAMA3	OMIM:619784
HP:0003577	Congenital onset	3909	LAMA3	OMIM:619783
HP:0003577	Congenital onset	3909	LAMA3	OMIM:226700
HP:0003577	Congenital onset	57505	AARS2	OMIM:614096
HP:0003577	Congenital onset	3918	LAMC2	OMIM:619785
HP:0003577	Congenital onset	3918	LAMC2	OMIM:619786
HP:0003577	Congenital onset	3918	LAMC2	OMIM:226700
HP:0003577	Congenital onset	51362	CDC40	OMIM:619302
HP:0003577	Congenital onset	8621	CDK13	OMIM:617360
HP:0003577	Congenital onset	1308	COL17A1	OMIM:619787
HP:0003577	Congenital onset	1419	CRYGB	OMIM:615188
HP:0003577	Congenital onset	1892	ECHS1	OMIM:616277
HP:0003577	Congenital onset	51117	COQ4	OMIM:616276
HP:0003577	Congenital onset	3763	KCNJ6	OMIM:614098
HP:0003577	Congenital onset	5587	PRKD1	OMIM:617364
HP:0003577	Congenital onset	93587	TRMT10A	OMIM:616033
HP:0003577	Congenital onset	9533	POLR1C	OMIM:248390
HP:0003577	Congenital onset	120766137	HRURF	OMIM:146550
HP:0003577	Congenital onset	29968	PSAT1	OMIM:616038
HP:0003577	Congenital onset	9851	KIAA0753	OMIM:617127
HP:0003577	Congenital onset	115948	ODAD3	OMIM:616037
HP:0003577	Congenital onset	55770	EXOC2	OMIM:619306
HP:0003577	Congenital onset	7080	NKX2-1	OMIM:610978
HP:0003577	Congenital onset	5290	PIK3CA	OMIM:612918
HP:0003577	Congenital onset	5290	PIK3CA	OMIM:155500
HP:0003577	Congenital onset	8504	PEX3	OMIM:617370
HP:0003577	Congenital onset	5898	RALA	OMIM:619311
HP:0003577	Congenital onset	79876	UBA5	OMIM:617132
HP:0003577	Congenital onset	367	AR	OMIM:300633
HP:0003577	Congenital onset	6909	TBX2	OMIM:618223
HP:0003577	Congenital onset	51422	PRKAG2	OMIM:261740
HP:0003577	Congenital onset	3852	KRT5	OMIM:619555
HP:0003577	Congenital onset	3852	KRT5	OMIM:619588
HP:0003577	Congenital onset	3852	KRT5	OMIM:619599
HP:0003577	Congenital onset	3852	KRT5	OMIM:619594
HP:0003577	Congenital onset	3852	KRT5	OMIM:131760
HP:0003577	Congenital onset	3852	KRT5	OMIM:131960
HP:0003577	Congenital onset	6477	SIAH1	OMIM:619314
HP:0003577	Congenital onset	54892	NCAPG2	OMIM:618460
HP:0003577	Congenital onset	112	ADCY6	OMIM:616287
HP:0003577	Congenital onset	4000	LMNA	OMIM:619793
HP:0003577	Congenital onset	85476	GFM1	OMIM:609060
HP:0003577	Congenital onset	6650	CAPN15	OMIM:619318
HP:0003577	Congenital onset	23384	SPECC1L	OMIM:600251
HP:0003577	Congenital onset	23384	SPECC1L	OMIM:145420
HP:0003577	Congenital onset	170302	ARX	OMIM:308350
HP:0003577	Congenital onset	60482	SLC5A7	OMIM:617143
HP:0003577	Congenital onset	1436	CSF1R	OMIM:618476
HP:0003577	Congenital onset	54765	TRIM44	OMIM:617142
HP:0003577	Congenital onset	26610	ELP4	OMIM:617141
HP:0003577	Congenital onset	2623	GATA1	OMIM:190685
HP:0003577	Congenital onset	29078	NDUFAF4	OMIM:618237
HP:0003577	Congenital onset	4081	MAB21L1	OMIM:618479
HP:0003577	Congenital onset	2068	ERCC2	OMIM:610756
HP:0003577	Congenital onset	7846	TUBA1A	OMIM:611603
HP:0003577	Congenital onset	2067	ERCC1	OMIM:610758
HP:0003577	Congenital onset	9179	AP4M1	OMIM:612936
HP:0003577	Congenital onset	79068	FTO	OMIM:612938
HP:0003577	Congenital onset	8626	TP63	OMIM:106260
HP:0003577	Congenital onset	8626	TP63	OMIM:604292
HP:0003577	Congenital onset	25929	GEMIN5	OMIM:619333
HP:0003577	Congenital onset	10940	POP1	OMIM:617396
HP:0003577	Congenital onset	2530	FUT8	OMIM:618005
HP:0003577	Congenital onset	1956	EGFR	OMIM:616069
HP:0003577	Congenital onset	55572	FOXRED1	OMIM:618241
HP:0003577	Congenital onset	54496	PRMT7	OMIM:617157
HP:0003577	Congenital onset	23414	ZFPM2	OMIM:616067
HP:0003577	Congenital onset	8260	NAA10	OMIM:300855
HP:0003577	Congenital onset	182	JAG1	OMIM:619574
HP:0003577	Congenital onset	182	JAG1	OMIM:617992
HP:0003577	Congenital onset	7169	TPM2	OMIM:609285
HP:0003577	Congenital onset	23229	ARHGEF9	OMIM:300607
HP:0003577	Congenital onset	1147	CHUK	OMIM:619339
HP:0003577	Congenital onset	92344	GORAB	OMIM:231070
HP:0003577	Congenital onset	3913	LAMB2	OMIM:609049
HP:0003577	Congenital onset	6491	STIL	OMIM:612703
HP:0003577	Congenital onset	22845	DOLK	OMIM:610768
HP:0003577	Congenital onset	8604	SLC25A12	OMIM:612949
HP:0003577	Congenital onset	6768	ST14	OMIM:602400
HP:0003577	Congenital onset	9509	ADAMTS2	OMIM:225410
HP:0003577	Congenital onset	10524	KAT5	OMIM:619103
HP:0003577	Congenital onset	372	ARCN1	OMIM:617164
HP:0003577	Congenital onset	285600	KIAA0825	OMIM:618498
HP:0003577	Congenital onset	3977	LIFR	OMIM:601559
HP:0003577	Congenital onset	80173	IFT74	OMIM:619582
HP:0003577	Congenital onset	1822	ATN1	OMIM:618494
HP:0003577	Congenital onset	4700	NDUFA6	OMIM:618253
HP:0003577	Congenital onset	84896	ATAD1	OMIM:618011
HP:0003577	Congenital onset	115399	LRRC56	OMIM:618254
HP:0003577	Congenital onset	5000	ORC4	OMIM:613800
HP:0003577	Congenital onset	84668	HYCC1	OMIM:610532
HP:0003577	Congenital onset	3930	LBR	OMIM:618019
HP:0003577	Congenital onset	25939	SAMHD1	OMIM:612952
HP:0003577	Congenital onset	2683	B4GALT1	OMIM:607091
HP:0003577	Congenital onset	4990	SIX6	OMIM:206900
HP:0003577	Congenital onset	4990	SIX6	OMIM:212550
HP:0003577	Congenital onset	6657	SOX2	OMIM:206900
HP:0003577	Congenital onset	81620	CDT1	OMIM:613804
HP:0003577	Congenital onset	412	STS	OMIM:308100
HP:0003577	Congenital onset	23594	ORC6	OMIM:613803
HP:0003577	Congenital onset	990	CDC6	OMIM:613805
HP:0003577	Congenital onset	339829	CCDC39	OMIM:613807
HP:0003577	Congenital onset	1021	CDK6	OMIM:616080
HP:0003577	Congenital onset	5281	PIGF	OMIM:619356
HP:0003577	Congenital onset	29895	MYL11	OMIM:619110
HP:0003577	Congenital onset	340419	RSPO2	OMIM:618021
HP:0003577	Congenital onset	5530	PPP3CA	OMIM:618265
HP:0003577	Congenital onset	5530	PPP3CA	OMIM:617711
HP:0003577	Congenital onset	5702	PSMC3	OMIM:619354
HP:0003577	Congenital onset	1387	CREBBP	OMIM:180849
HP:0003577	Congenital onset	79005	SCNM1	OMIM:620107
HP:0003577	Congenital onset	50846	DHH	OMIM:607080
HP:0003577	Congenital onset	7168	TPM1	OMIM:611878
HP:0003577	Congenital onset	8204	NRIP1	OMIM:618270
HP:0003577	Congenital onset	23405	DICER1	OMIM:618272
HP:0003577	Congenital onset	113189	CHST14	OMIM:601776
HP:0003577	Congenital onset	90522	YIF1B	OMIM:619125
HP:0003577	Congenital onset	291	SLC25A4	OMIM:617184
HP:0003577	Congenital onset	55755	CDK5RAP2	OMIM:604804
HP:0003577	Congenital onset	6472	SHMT2	OMIM:619121
HP:0003577	Congenital onset	10220	GDF11	OMIM:619122
HP:0003577	Congenital onset	90416	CCDC32	OMIM:619123
HP:0003577	Congenital onset	23287	AGTPBP1	OMIM:618276
HP:0003577	Congenital onset	10161	LPAR6	OMIM:278150
HP:0003577	Congenital onset	64093	SMOC1	OMIM:206920
HP:0003577	Congenital onset	22995	CEP152	OMIM:613823
HP:0003577	Congenital onset	4604	MYBPC1	OMIM:614915
HP:0003577	Congenital onset	9759	HDAC4	OMIM:600430
HP:0003577	Congenital onset	55252	ASXL2	OMIM:617190
HP:0003577	Congenital onset	4140	MARK3	OMIM:618283
HP:0003577	Congenital onset	342035	GLDN	OMIM:617194
HP:0003577	Congenital onset	6904	TBCD	OMIM:617193
HP:0003577	Congenital onset	57020	VPS35L	OMIM:619135
HP:0003577	Congenital onset	7390	UROS	OMIM:263700
HP:0003577	Congenital onset	51371	POMP	OMIM:618048
HP:0003577	Congenital onset	3739	KCNA4	OMIM:618284
HP:0003577	Congenital onset	1984	EIF5A	OMIM:619376
HP:0003577	Congenital onset	2733	GLE1	OMIM:611890
HP:0003577	Congenital onset	210	ALAD	OMIM:612740
HP:0003577	Congenital onset	55005	RMND1	OMIM:614922
HP:0003577	Congenital onset	59	ACTA2	OMIM:613834
HP:0003577	Congenital onset	5076	PAX2	OMIM:120330
HP:0003577	Congenital onset	224	ALDH3A2	OMIM:270200
HP:0003577	Congenital onset	23299	BICD2	OMIM:618291
HP:0003577	Congenital onset	11011	TLK2	OMIM:618050
HP:0003577	Congenital onset	57538	ALPK3	OMIM:618052
HP:0003577	Congenital onset	3735	KARS1	OMIM:619147
HP:0003577	Congenital onset	5566	PRKACA	OMIM:619142
HP:0003577	Congenital onset	8665	EIF3F	OMIM:618295
HP:0003577	Congenital onset	5567	PRKACB	OMIM:619143
HP:0003577	Congenital onset	146059	CDAN1	OMIM:224120
HP:0003577	Congenital onset	8823	FGF16	OMIM:309630
HP:0003577	Congenital onset	7287	TULP1	OMIM:613843
HP:0003577	Congenital onset	8517	IKBKG	OMIM:308300
HP:0003577	Congenital onset	3480	IGF1R	OMIM:270450
HP:0003577	Congenital onset	3476	IGBP1	OMIM:300472
HP:0003577	Congenital onset	11113	CIT	OMIM:617090
HP:0003577	Congenital onset	4359	MPZ	OMIM:618184
HP:0003577	Congenital onset	84189	SLITRK6	OMIM:221200
HP:0003577	Congenital onset	10128	LRPPRC	OMIM:220111
HP:0003577	Congenital onset	10134	BCAP31	OMIM:300475
HP:0003577	Congenital onset	158	ADSL	OMIM:103050
HP:0003577	Congenital onset	10262	SF3B4	OMIM:154400
HP:0003577	Congenital onset	8506	CNTNAP1	OMIM:618186
HP:0003577	Congenital onset	55503	TRPV6	OMIM:618188
HP:0003577	Congenital onset	83700	JAM3	OMIM:613730
HP:0003577	Congenital onset	4091	SMAD6	OMIM:614823
HP:0003577	Congenital onset	55624	POMGNT1	OMIM:253280
HP:0003577	Congenital onset	55624	POMGNT1	OMIM:613151
HP:0003577	Congenital onset	10992	SF3B2	OMIM:164210
HP:0003577	Congenital onset	3048	HBG2	OMIM:613977
HP:0003577	Congenital onset	8496	PPFIBP1	OMIM:620024
HP:0003577	Congenital onset	4867	NPHP1	OMIM:609583
HP:0003577	Congenital onset	80222	TARS2	OMIM:615918
HP:0003577	Congenital onset	6840	SVIL	OMIM:619040
HP:0003577	Congenital onset	3239	HOXD13	OMIM:186000
HP:0003577	Congenital onset	4281	MID1	OMIM:300000
HP:0003577	Congenital onset	8443	GNPAT	OMIM:222765
HP:0003577	Congenital onset	162	AP1B1	OMIM:242150
HP:0003577	Congenital onset	6335	SCN9A	OMIM:243000
HP:0003577	Congenital onset	4649	MYO9A	OMIM:618198
HP:0003577	Congenital onset	23322	RPGRIP1L	OMIM:611561
HP:0003577	Congenital onset	84892	POMGNT2	OMIM:614830
HP:0003577	Congenital onset	4882	NPR2	OMIM:615923
HP:0003577	Congenital onset	23431	AP4E1	OMIM:613744
HP:0003577	Congenital onset	4868	NPHS1	OMIM:256300
HP:0003577	Congenital onset	7298	TYMS	OMIM:620040
HP:0003577	Congenital onset	274	BIN1	OMIM:255200
HP:0003577	Congenital onset	93	ACVR2B	OMIM:613751
HP:0003577	Congenital onset	10015	PDCD6IP	OMIM:620047
HP:0003577	Congenital onset	894	CCND2	OMIM:615938
HP:0003577	Congenital onset	7841	MOGS	OMIM:606056
HP:0003577	Congenital onset	55107	ANO1	OMIM:620045
HP:0003577	Congenital onset	8546	AP3B1	OMIM:608233
HP:0003577	Congenital onset	2317	FLNB	OMIM:108720
HP:0003577	Congenital onset	1339	COX6A2	OMIM:619062
HP:0003577	Congenital onset	1717	DHCR7	OMIM:270400
HP:0003577	Congenital onset	9377	COX5A	OMIM:619064
HP:0003577	Congenital onset	860	RUNX2	OMIM:119600
HP:0003577	Congenital onset	4212	MEIS2	OMIM:600987
HP:0003577	Congenital onset	4697	NDUFA4	OMIM:619065
HP:0003577	Congenital onset	5167	ENPP1	OMIM:208000
HP:0003577	Congenital onset	5167	ENPP1	OMIM:615522
HP:0003577	Congenital onset	51199	NIN	OMIM:614851
HP:0003577	Congenital onset	1410	CRYAB	OMIM:613763
HP:0003577	Congenital onset	60	ACTB	OMIM:607371
HP:0003577	Congenital onset	6663	SOX10	OMIM:611584
HP:0003577	Congenital onset	5144	PDE4D	OMIM:614613
HP:0003577	Congenital onset	117155	CATSPER2	OMIM:611102
HP:0003577	Congenital onset	161497	STRC	OMIM:611102
HP:0003577	Congenital onset	649	BMP1	OMIM:614856
HP:0003577	Congenital onset	2301	FOXE3	OMIM:610256
HP:0003577	Congenital onset	51021	MRPS16	OMIM:610498
HP:0003577	Congenital onset	57465	TBC1D24	OMIM:614617
HP:0003577	Congenital onset	57465	TBC1D24	OMIM:220500
HP:0003577	Congenital onset	26005	C2CD3	OMIM:615948
HP:0003577	Congenital onset	1906	EDN1	OMIM:615706
HP:0003577	Congenital onset	5193	PEX12	OMIM:614859
HP:0003577	Congenital onset	5193	PEX12	OMIM:266510
HP:0003577	Congenital onset	374393	FAM111B	OMIM:615704
HP:0003577	Congenital onset	5826	ABCD4	OMIM:614857
HP:0003577	Congenital onset	79443	FYCO1	OMIM:610019
HP:0003577	Congenital onset	6911	TBX6	OMIM:122600
HP:0003577	Congenital onset	1174	AP1S1	OMIM:609313
HP:0003577	Congenital onset	374654	KIF7	OMIM:607131
HP:0003577	Congenital onset	2697	GJA1	OMIM:257850
HP:0003577	Congenital onset	2697	GJA1	OMIM:104100
HP:0003577	Congenital onset	2743	GLRB	OMIM:614619
HP:0003577	Congenital onset	26227	PHGDH	OMIM:256520
HP:0003577	Congenital onset	23265	EXOC7	OMIM:619072
HP:0003577	Congenital onset	4204	MECP2	OMIM:300673
HP:0003577	Congenital onset	117531	TMC1	OMIM:600974
HP:0003577	Congenital onset	5091	PC	OMIM:266150
HP:0003577	Congenital onset	222546	RFX6	OMIM:615710
HP:0003577	Congenital onset	54084	TSPEAR	OMIM:614861
HP:0003577	Congenital onset	5828	PEX2	OMIM:614866
HP:0003577	Congenital onset	1282	COL4A1	OMIM:175780
HP:0003577	Congenital onset	171019	ADAMTS19	OMIM:620067
HP:0003577	Congenital onset	10518	CIB2	OMIM:614869
HP:0003577	Congenital onset	4952	OCRL	OMIM:309000
HP:0003577	Congenital onset	83475	DOHH	OMIM:620066
HP:0003577	Congenital onset	84992	PIGY	OMIM:616809
HP:0003577	Congenital onset	10236	HNRNPR	OMIM:620073
HP:0003577	Congenital onset	51611	DPH5	OMIM:620070
HP:0003577	Congenital onset	78989	COLEC11	OMIM:265050
HP:0003577	Congenital onset	6558	SLC12A2	OMIM:619080
HP:0003577	Congenital onset	402	ARL2	OMIM:619082
HP:0003577	Congenital onset	5159	PDGFRB	OMIM:601812
HP:0003577	Congenital onset	554	AVPR2	OMIM:304800
HP:0003577	Congenital onset	5192	PEX10	OMIM:614870
HP:0003577	Congenital onset	55670	PEX26	OMIM:614872
HP:0003577	Congenital onset	488	ATP2A2	OMIM:101900
HP:0003577	Congenital onset	28976	ACAD9	OMIM:611126
HP:0003577	Congenital onset	25828	TXN2	OMIM:616811
HP:0003577	Congenital onset	1588	CYP19A1	OMIM:613546
HP:0003577	Congenital onset	7443	VRK1	OMIM:607596
HP:0003577	Congenital onset	471	ATIC	OMIM:608688
HP:0003577	Congenital onset	6231	RPS26	OMIM:613309
HP:0003577	Congenital onset	6204	RPS10	OMIM:613308
HP:0003577	Congenital onset	3911	LAMA5	OMIM:620076
HP:0003577	Congenital onset	3187	HNRNPH1	OMIM:620083
HP:0003577	Congenital onset	7837	PXDN	OMIM:269400
HP:0003577	Congenital onset	4920	ROR2	OMIM:268310
HP:0003577	Congenital onset	4677	NARS1	OMIM:619091
HP:0003577	Congenital onset	4677	NARS1	OMIM:619092
HP:0003577	Congenital onset	81031	SLC2A10	OMIM:208050
HP:0003577	Congenital onset	254065	BRWD3	OMIM:300659
HP:0003577	Congenital onset	2059	EPS8	OMIM:615974
HP:0003577	Congenital onset	26022	TMEM98	OMIM:615972
HP:0003577	Congenital onset	140628	GATA5	OMIM:617912
HP:0003577	Congenital onset	11023	VAX1	OMIM:614402
HP:0003577	Congenital onset	5824	PEX19	OMIM:614886
HP:0003577	Congenital onset	5195	PEX14	OMIM:614887
HP:0003577	Congenital onset	157570	ESCO2	OMIM:268300
HP:0003577	Congenital onset	5631	PRPS1	OMIM:300661
HP:0003577	Congenital onset	9775	EIF4A3	OMIM:268305
HP:0003577	Congenital onset	25861	WHRN	OMIM:611383
HP:0003577	Congenital onset	123016	TTC8	OMIM:615985
HP:0003577	Congenital onset	51025	PAM16	OMIM:613320
HP:0003577	Congenital onset	585	BBS4	OMIM:615982
HP:0003577	Congenital onset	22954	TRIM32	OMIM:615988
HP:0003577	Congenital onset	51475	CABP2	OMIM:614899
HP:0003577	Congenital onset	166379	BBS12	OMIM:615989
HP:0003577	Congenital onset	10664	CTCF	OMIM:615502
HP:0003577	Congenital onset	27241	BBS9	OMIM:615986
HP:0003577	Congenital onset	1828	DSG1	OMIM:615508
HP:0003577	Congenital onset	5054	SERPINE1	OMIM:613329
HP:0003577	Congenital onset	865	CBFB	OMIM:620099
HP:0003577	Congenital onset	7051	TGM1	OMIM:242300
HP:0003577	Congenital onset	579	NKX3-2	OMIM:613330
HP:0003577	Congenital onset	4683	NBN	OMIM:251260
HP:0003577	Congenital onset	11020	IFT27	OMIM:615996
HP:0003577	Congenital onset	2984	GUCY2C	OMIM:614665
HP:0003577	Congenital onset	81607	NECTIN4	OMIM:613573
HP:0003577	Congenital onset	100151683	RNU4ATAC	OMIM:210710
HP:0003577	Congenital onset	29926	GMPPA	OMIM:615510
HP:0003577	Congenital onset	54585	LZTFL1	OMIM:615994
HP:0003577	Congenital onset	5832	ALDH18A1	OMIM:616603
HP:0003577	Congenital onset	7545	ZIC1	OMIM:616602
HP:0003577	Congenital onset	658	BMPR1B	OMIM:616849
HP:0003577	Congenital onset	1417	CRYBB3	OMIM:609741
HP:0003577	Congenital onset	8556	CDC14A	OMIM:608653
HP:0003577	Congenital onset	91179	SCARF2	OMIM:600920
HP:0003577	Congenital onset	9662	CEP135	OMIM:614673
HP:0003577	Congenital onset	10370	CITED2	OMIM:614431
HP:0003577	Congenital onset	1482	NKX2-5	OMIM:614432
HP:0003577	Congenital onset	1482	NKX2-5	OMIM:614435
HP:0003577	Congenital onset	388389	CCDC103	OMIM:614679
HP:0003577	Congenital onset	30008	EFEMP2	OMIM:614437
HP:0003577	Congenital onset	5831	PYCR1	OMIM:614438
HP:0003577	Congenital onset	5915	RARB	OMIM:615524
HP:0003577	Congenital onset	51010	EXOSC3	OMIM:614678
HP:0003577	Congenital onset	51259	TMEM216	OMIM:603194
HP:0003577	Congenital onset	64221	ROBO3	OMIM:607313
HP:0003577	Congenital onset	55997	CFC1	OMIM:605376
HP:0003577	Congenital onset	5932	RBBP8	OMIM:251255
HP:0003577	Congenital onset	7454	WAS	OMIM:300299
HP:0003577	Congenital onset	78987	CRELD1	OMIM:606217
HP:0003577	Congenital onset	203068	TUBB	OMIM:615771
HP:0003577	Congenital onset	9631	NUP155	OMIM:615770
HP:0003577	Congenital onset	10265	IRX5	OMIM:611174
HP:0003577	Congenital onset	81027	TUBB1	OMIM:613112
HP:0003577	Congenital onset	7026	NR2F2	OMIM:615779
HP:0003577	Congenital onset	27315	PGAP2	OMIM:614207
HP:0003577	Congenital onset	51008	ASCC1	OMIM:616867
HP:0003577	Congenital onset	708	C1QBP	OMIM:617713
HP:0003577	Congenital onset	1063	CENPF	OMIM:243605
HP:0003577	Congenital onset	29940	DSE	OMIM:615539
HP:0003577	Congenital onset	91647	ATPAF2	OMIM:604273
HP:0003577	Congenital onset	727857	BHLHA9	OMIM:607539
HP:0003577	Congenital onset	163183	SYNE4	OMIM:615540
HP:0003577	Congenital onset	338917	VSX2	OMIM:610093
HP:0003577	Congenital onset	79796	ALG9	OMIM:263210
HP:0003577	Congenital onset	55750	AGK	OMIM:614691
HP:0003577	Congenital onset	547	KIF1A	OMIM:614213
HP:0003577	Congenital onset	54664	TMEM106B	OMIM:617964
HP:0003577	Congenital onset	11280	SCN11A	OMIM:615548
HP:0003577	Congenital onset	79633	FAT4	OMIM:615546
HP:0003577	Congenital onset	124997	WDR81	OMIM:617967
HP:0003577	Congenital onset	6785	ELOVL4	OMIM:614457
HP:0003577	Congenital onset	9419	CRIPT	OMIM:615789
HP:0003577	Congenital onset	65217	PCDH15	OMIM:602083
HP:0003577	Congenital onset	55644	OSGEP	OMIM:617729
HP:0003577	Congenital onset	57572	DOCK6	OMIM:614219
HP:0003577	Congenital onset	59336	PRDM13	OMIM:619909
HP:0003577	Congenital onset	242	ALOX12B	OMIM:242100
HP:0003577	Congenital onset	401	PHOX2A	OMIM:602078
HP:0003577	Congenital onset	8200	GDF5	OMIM:200700
HP:0003577	Congenital onset	348938	NIPAL4	OMIM:612281
HP:0003577	Congenital onset	6628	SNRPB	OMIM:117650
HP:0003577	Congenital onset	112858	TP53RK	OMIM:617730
HP:0003577	Congenital onset	6138	RPL15	OMIM:615550
HP:0003577	Congenital onset	163786	SASS6	OMIM:616402
HP:0003577	Congenital onset	25782	RAB3GAP2	OMIM:614225
HP:0003577	Congenital onset	22931	RAB18	OMIM:614222
HP:0003577	Congenital onset	23443	SLC35A3	OMIM:615553
HP:0003577	Congenital onset	29957	SLC25A24	OMIM:612289
HP:0003577	Congenital onset	3039	HBA1	OMIM:617973
HP:0003577	Congenital onset	490	ATP2B1	OMIM:619910
HP:0003577	Congenital onset	51776	MAP3K20	OMIM:616890
HP:0003577	Congenital onset	3199	HOXA2	OMIM:612290
HP:0003577	Congenital onset	51124	IER3IP1	OMIM:614231
HP:0003577	Congenital onset	9918	NCAPD2	OMIM:617983
HP:0003577	Congenital onset	54870	QRICH1	OMIM:617982
HP:0003577	Congenital onset	2627	GATA6	OMIM:614474
HP:0003577	Congenital onset	2627	GATA6	OMIM:614475
HP:0003577	Congenital onset	11005	SPINK5	OMIM:256500
HP:0003577	Congenital onset	23397	NCAPH	OMIM:617985
HP:0003577	Congenital onset	55704	CCDC88A	OMIM:617507
HP:0003577	Congenital onset	5500	PPP1CB	OMIM:617506
HP:0003577	Congenital onset	7253	TSHR	OMIM:275200
HP:0003577	Congenital onset	3284	HSD3B2	OMIM:201810
HP:0003577	Congenital onset	5889	RAD51C	OMIM:613390
HP:0003577	Congenital onset	200205	IBA57	OMIM:615330
HP:0003577	Congenital onset	7431	VIM	OMIM:116300
HP:0003577	Congenital onset	1663	DDX11	OMIM:613398
HP:0003577	Congenital onset	119559	SFXN4	OMIM:615578
HP:0003577	Congenital onset	5718	PSMD12	OMIM:617516
HP:0003577	Congenital onset	51684	SUFU	OMIM:617757
HP:0003577	Congenital onset	9439	MED23	OMIM:614249
HP:0003577	Congenital onset	57731	SPTBN4	OMIM:617519
HP:0003577	Congenital onset	10269	ZMPSTE24	OMIM:275210
HP:0003577	Congenital onset	6223	RPS19	OMIM:105650
HP:0003577	Congenital onset	10516	FBLN5	OMIM:219100
HP:0003577	Congenital onset	5307	PITX1	OMIM:119800
HP:0003577	Congenital onset	2902	GRIN1	OMIM:614254
HP:0003577	Congenital onset	92935	MARS2	OMIM:616430
HP:0003577	Congenital onset	22827	PUF60	OMIM:615583
HP:0003577	Congenital onset	50484	RRM2B	OMIM:612075
HP:0003577	Congenital onset	2815	GP9	OMIM:231200
HP:0003577	Congenital onset	2811	GP1BA	OMIM:231200
HP:0003577	Congenital onset	2812	GP1BB	OMIM:231200
HP:0003577	Congenital onset	29089	UBE2T	OMIM:616435
HP:0003577	Congenital onset	127534	GJB4	OMIM:617524
HP:0003577	Congenital onset	85378	TUBGCP6	OMIM:251270
HP:0003577	Congenital onset	4254	KITLG	OMIM:619947
HP:0003577	Congenital onset	9181	ARHGEF2	OMIM:617523
HP:0003577	Congenital onset	10058	ABCB6	OMIM:614497
HP:0003577	Congenital onset	6688	SPI1	OMIM:619707
HP:0003577	Congenital onset	55753	OGDHL	OMIM:619701
HP:0003577	Congenital onset	9373	PLAA	OMIM:617527
HP:0003577	Congenital onset	100128908	CIROP	OMIM:619702
HP:0003577	Congenital onset	2531	KDSR	OMIM:617526
HP:0003621	Juvenile onset	6335	SCN9A	OMIM:133020
HP:0003621	Juvenile onset	64170	CARD9	OMIM:212050
HP:0003621	Juvenile onset	7428	VHL	OMIM:263400
HP:0003621	Juvenile onset	10159	ATP6AP2	OMIM:300911
HP:0003621	Juvenile onset	151648	SGO1	OMIM:616201
HP:0003621	Juvenile onset	57468	SLC12A5	OMIM:616685
HP:0003621	Juvenile onset	9860	LRIG2	OMIM:615112
HP:0003621	Juvenile onset	7293	TNFRSF4	OMIM:615593
HP:0003621	Juvenile onset	253017	TECRL	OMIM:614021
HP:0003621	Juvenile onset	22880	MORC2	OMIM:616688
HP:0003621	Juvenile onset	8573	CASK	OMIM:300908
HP:0003621	Juvenile onset	2539	G6PD	OMIM:300908
HP:0003621	Juvenile onset	8710	SERPINB7	OMIM:615598
HP:0003621	Juvenile onset	4897	NRCAM	OMIM:619833
HP:0003621	Juvenile onset	63924	CIDEC	OMIM:615238
HP:0003621	Juvenile onset	5165	PDK3	OMIM:300905
HP:0003621	Juvenile onset	125150	ZSWIM7	OMIM:619834
HP:0003621	Juvenile onset	3703	STT3A	OMIM:619714
HP:0003621	Juvenile onset	755	CFAP410	OMIM:602271
HP:0003621	Juvenile onset	755	CFAP410	OMIM:617547
HP:0003621	Juvenile onset	8291	DYSF	OMIM:253601
HP:0003621	Juvenile onset	8291	DYSF	OMIM:606768
HP:0003621	Juvenile onset	7068	THRB	OMIM:274300
HP:0003621	Juvenile onset	1736	DKC1	OMIM:305000
HP:0003621	Juvenile onset	825	CAPN3	OMIM:253600
HP:0003621	Juvenile onset	825	CAPN3	OMIM:618129
HP:0003621	Juvenile onset	27022	FOXD3	OMIM:607836
HP:0003621	Juvenile onset	10021	HCN4	OMIM:163800
HP:0003621	Juvenile onset	7849	PAX8	OMIM:218700
HP:0003621	Juvenile onset	9742	IFT140	OMIM:617781
HP:0003621	Juvenile onset	4867	NPHP1	OMIM:266900
HP:0003621	Juvenile onset	4210	MEFV	OMIM:249100
HP:0003621	Juvenile onset	4210	MEFV	OMIM:134610
HP:0003621	Juvenile onset	8566	PDXK	OMIM:618511
HP:0003621	Juvenile onset	374462	PTPRQ	OMIM:617663
HP:0003621	Juvenile onset	56616	DIABLO	OMIM:614152
HP:0003621	Juvenile onset	5155	PDGFB	OMIM:615483
HP:0003621	Juvenile onset	70	ACTC1	OMIM:612098
HP:0003621	Juvenile onset	70	ACTC1	OMIM:613424
HP:0003621	Juvenile onset	4598	MVK	OMIM:175900
HP:0003621	Juvenile onset	200205	IBA57	OMIM:616451
HP:0003621	Juvenile onset	2099	ESR1	OMIM:615363
HP:0003621	Juvenile onset	57582	KCNT1	OMIM:615005
HP:0003621	Juvenile onset	477	ATP1A2	OMIM:619605
HP:0003621	Juvenile onset	477	ATP1A2	OMIM:602481
HP:0003621	Juvenile onset	84665	MYPN	OMIM:615248
HP:0003621	Juvenile onset	84665	MYPN	OMIM:617336
HP:0003621	Juvenile onset	55689	YEATS2	OMIM:615127
HP:0003621	Juvenile onset	2670	GFAP	OMIM:203450
HP:0003621	Juvenile onset	92840	REEP6	OMIM:617304
HP:0003621	Juvenile onset	79639	TMEM53	OMIM:619727
HP:0003621	Juvenile onset	4790	NFKB1	OMIM:616576
HP:0003621	Juvenile onset	10686	CLDN16	OMIM:248250
HP:0003621	Juvenile onset	5159	PDGFRB	OMIM:615007
HP:0003621	Juvenile onset	5159	PDGFRB	OMIM:616592
HP:0003621	Juvenile onset	4000	LMNA	OMIM:248370
HP:0003621	Juvenile onset	4000	LMNA	OMIM:613205
HP:0003621	Juvenile onset	4000	LMNA	OMIM:151660
HP:0003621	Juvenile onset	3781	KCNN2	OMIM:619724
HP:0003621	Juvenile onset	8526	DGKE	OMIM:615008
HP:0003621	Juvenile onset	7486	WRN	OMIM:277700
HP:0003621	Juvenile onset	1476	CSTB	OMIM:254800
HP:0003621	Juvenile onset	81846	SBF2	OMIM:604563
HP:0003621	Juvenile onset	55034	MOCOS	OMIM:603592
HP:0003621	Juvenile onset	146057	TTBK2	OMIM:604432
HP:0003621	Juvenile onset	60482	SLC5A7	OMIM:158580
HP:0003621	Juvenile onset	54	ACP5	OMIM:607944
HP:0003621	Juvenile onset	51083	GAL	OMIM:616461
HP:0003621	Juvenile onset	535	ATP6V0A1	OMIM:619971
HP:0003621	Juvenile onset	6772	STAT1	OMIM:614162
HP:0003621	Juvenile onset	6772	STAT1	OMIM:614892
HP:0003621	Juvenile onset	4358	MPV17	OMIM:618400
HP:0003621	Juvenile onset	7345	UCHL1	OMIM:615491
HP:0003621	Juvenile onset	7345	UCHL1	OMIM:620221
HP:0003621	Juvenile onset	5832	ALDH18A1	OMIM:616586
HP:0003621	Juvenile onset	5832	ALDH18A1	OMIM:601162
HP:0003621	Juvenile onset	57449	PLEKHG5	OMIM:615376
HP:0003621	Juvenile onset	63976	PRDM16	OMIM:615373
HP:0003621	Juvenile onset	1280	COL2A1	OMIM:616583
HP:0003621	Juvenile onset	1280	COL2A1	OMIM:604864
HP:0003621	Juvenile onset	286204	CRB2	OMIM:616220
HP:0003621	Juvenile onset	9364	RAB28	OMIM:615374
HP:0003621	Juvenile onset	2261	FGFR3	OMIM:146000
HP:0003621	Juvenile onset	79797	ZNF408	OMIM:616468
HP:0003621	Juvenile onset	10352	WARS2	OMIM:619738
HP:0003621	Juvenile onset	8930	MBD4	OMIM:619975
HP:0003621	Juvenile onset	6445	SGCG	OMIM:253700
HP:0003621	Juvenile onset	1181	CLCN2	OMIM:605635
HP:0003621	Juvenile onset	1181	CLCN2	OMIM:615651
HP:0003621	Juvenile onset	6331	SCN5A	OMIM:601154
HP:0003621	Juvenile onset	6331	SCN5A	OMIM:603830
HP:0003621	Juvenile onset	6331	SCN5A	OMIM:608567
HP:0003621	Juvenile onset	2645	GCK	OMIM:602485
HP:0003621	Juvenile onset	2645	GCK	OMIM:125851
HP:0003621	Juvenile onset	203286	ANKS6	OMIM:615382
HP:0003621	Juvenile onset	567	B2M	OMIM:241600
HP:0003621	Juvenile onset	10935	PRDX3	OMIM:619862
HP:0003621	Juvenile onset	10935	PRDX3	OMIM:619871
HP:0003621	Juvenile onset	5297	PI4KA	OMIM:619621
HP:0003621	Juvenile onset	83636	C19orf12	OMIM:614298
HP:0003621	Juvenile onset	83636	C19orf12	OMIM:615043
HP:0003621	Juvenile onset	4439	MSH5	OMIM:617442
HP:0003621	Juvenile onset	7466	WFS1	OMIM:614296
HP:0003621	Juvenile onset	7466	WFS1	OMIM:222300
HP:0003621	Juvenile onset	7466	WFS1	OMIM:600965
HP:0003621	Juvenile onset	9723	SEMA3E	OMIM:146110
HP:0003621	Juvenile onset	558	AXL	OMIM:146110
HP:0003621	Juvenile onset	2798	GNRHR	OMIM:146110
HP:0003621	Juvenile onset	2796	GNRH1	OMIM:146110
HP:0003621	Juvenile onset	10011	SRA1	OMIM:146110
HP:0003621	Juvenile onset	55717	WDR11	OMIM:146110
HP:0003621	Juvenile onset	8822	FGF17	OMIM:146110
HP:0003621	Juvenile onset	1848	DUSP6	OMIM:146110
HP:0003621	Juvenile onset	81848	SPRY4	OMIM:146110
HP:0003621	Juvenile onset	285025	CCDC141	OMIM:146110
HP:0003621	Juvenile onset	389549	FEZF1	OMIM:146110
HP:0003621	Juvenile onset	389549	FEZF1	OMIM:616030
HP:0003621	Juvenile onset	51271	UBAP1	OMIM:618418
HP:0003621	Juvenile onset	55526	DHTKD1	OMIM:615025
HP:0003621	Juvenile onset	1201	CLN3	OMIM:204200
HP:0003621	Juvenile onset	90268	OTULIN	OMIM:619986
HP:0003621	Juvenile onset	54840	APTX	OMIM:208920
HP:0003621	Juvenile onset	6392	SDHD	OMIM:168000
HP:0003621	Juvenile onset	9529	BAG5	OMIM:619747
HP:0003621	Juvenile onset	950	SCARB2	OMIM:254900
HP:0003621	Juvenile onset	79158	GNPTAB	OMIM:252600
HP:0003621	Juvenile onset	9927	MFN2	OMIM:601152
HP:0003621	Juvenile onset	4053	LTBP2	OMIM:251750
HP:0003621	Juvenile onset	59341	TRPV4	OMIM:606835
HP:0003621	Juvenile onset	59341	TRPV4	OMIM:184252
HP:0003621	Juvenile onset	10594	PRPF8	OMIM:600059
HP:0003621	Juvenile onset	113612	CYP2U1	OMIM:615030
HP:0003621	Juvenile onset	1499	CTNNB1	OMIM:617572
HP:0003621	Juvenile onset	1770	DNAH9	OMIM:618300
HP:0003621	Juvenile onset	10043	TOM1	OMIM:619510
HP:0003621	Juvenile onset	3572	IL6ST	OMIM:619752
HP:0003621	Juvenile onset	5311	PKD2	OMIM:613095
HP:0003621	Juvenile onset	29775	CARD10	OMIM:619632
HP:0003621	Juvenile onset	23767	FLRT3	OMIM:615271
HP:0003621	Juvenile onset	402381	SOHLH1	OMIM:617690
HP:0003621	Juvenile onset	63982	ANO3	OMIM:615034
HP:0003621	Juvenile onset	91574	MTRFR	OMIM:615035
HP:0003621	Juvenile onset	8879	SGPL1	OMIM:617575
HP:0003621	Juvenile onset	54914	FOCAD	OMIM:619991
HP:0003621	Juvenile onset	805	CALM2	OMIM:616249
HP:0003621	Juvenile onset	5593	PRKG2	OMIM:619638
HP:0003621	Juvenile onset	54902	TTC19	OMIM:615157
HP:0003621	Juvenile onset	5295	PIK3R1	OMIM:616005
HP:0003621	Juvenile onset	389692	MAFA	OMIM:147630
HP:0003621	Juvenile onset	4808	NHLH2	OMIM:619755
HP:0003621	Juvenile onset	6262	RYR2	OMIM:604772
HP:0003621	Juvenile onset	845	CASQ2	OMIM:604772
HP:0003621	Juvenile onset	10345	TRDN	OMIM:604772
HP:0003621	Juvenile onset	1180	CLCN1	OMIM:255700
HP:0003621	Juvenile onset	1180	CLCN1	OMIM:160800
HP:0003621	Juvenile onset	6606	SMN1	OMIM:253400
HP:0003621	Juvenile onset	6607	SMN2	OMIM:253400
HP:0003621	Juvenile onset	51284	TLR7	OMIM:301080
HP:0003621	Juvenile onset	111	ADCY5	OMIM:606703
HP:0003621	Juvenile onset	10908	PNPLA6	OMIM:215470
HP:0003621	Juvenile onset	10059	DNM1L	OMIM:610708
HP:0003621	Juvenile onset	117531	TMC1	OMIM:606705
HP:0003621	Juvenile onset	117531	TMC1	OMIM:600974
HP:0003621	Juvenile onset	6101	RP1	OMIM:180100
HP:0003621	Juvenile onset	79991	STN1	OMIM:617341
HP:0003621	Juvenile onset	6305	SBF1	OMIM:615284
HP:0003621	Juvenile onset	11234	HPS5	OMIM:614074
HP:0003621	Juvenile onset	7075	TIE1	OMIM:619401
HP:0003621	Juvenile onset	3098	HK1	OMIM:617460
HP:0003621	Juvenile onset	3098	HK1	OMIM:605285
HP:0003621	Juvenile onset	84343	HPS3	OMIM:614072
HP:0003621	Juvenile onset	57169	ZNFX1	OMIM:619644
HP:0003621	Juvenile onset	150274	HSCB	OMIM:619523
HP:0003621	Juvenile onset	6329	SCN4A	OMIM:614198
HP:0003621	Juvenile onset	27068	PPA2	OMIM:617223
HP:0003621	Juvenile onset	5800	PTPRO	OMIM:614196
HP:0003621	Juvenile onset	2542	SLC37A4	OMIM:619525
HP:0003621	Juvenile onset	6117	RPA1	OMIM:619767
HP:0003621	Juvenile onset	256471	MFSD8	OMIM:610951
HP:0003621	Juvenile onset	11261	CHP1	OMIM:618438
HP:0003621	Juvenile onset	540	ATP7B	OMIM:277900
HP:0003621	Juvenile onset	6925	TCF4	OMIM:610954
HP:0003621	Juvenile onset	7139	TNNT2	OMIM:601494
HP:0003621	Juvenile onset	2556	GABRA3	OMIM:301091
HP:0003621	Juvenile onset	3373	HYAL1	OMIM:601492
HP:0003621	Juvenile onset	10280	SIGMAR1	OMIM:605726
HP:0003621	Juvenile onset	23299	BICD2	OMIM:615290
HP:0003621	Juvenile onset	83723	TLCD3B	OMIM:619531
HP:0003621	Juvenile onset	11284	PNKP	OMIM:616267
HP:0003621	Juvenile onset	3423	IDS	OMIM:309900
HP:0003621	Juvenile onset	64377	CHST8	OMIM:616265
HP:0003621	Juvenile onset	2395	FXN	OMIM:229300
HP:0003621	Juvenile onset	2694	CBLIF	OMIM:261000
HP:0003621	Juvenile onset	10463	SLC30A9	OMIM:617595
HP:0003621	Juvenile onset	79651	RHBDF2	OMIM:148500
HP:0003621	Juvenile onset	8974	P4HA2	OMIM:617238
HP:0003621	Juvenile onset	2591	GALNT3	OMIM:211900
HP:0003621	Juvenile onset	5213	PFKM	OMIM:232800
HP:0003621	Juvenile onset	23499	MACF1	OMIM:618325
HP:0003621	Juvenile onset	775	CACNA1C	OMIM:618447
HP:0003621	Juvenile onset	54532	USP53	OMIM:619658
HP:0003621	Juvenile onset	51062	ATL1	OMIM:182600
HP:0003621	Juvenile onset	51196	PLCE1	OMIM:610725
HP:0003621	Juvenile onset	51311	TLR8	OMIM:301078
HP:0003621	Juvenile onset	1967	EIF2B1	OMIM:603896
HP:0003621	Juvenile onset	79628	SH3TC2	OMIM:601596
HP:0003621	Juvenile onset	1832	DSP	OMIM:612908
HP:0003621	Juvenile onset	6330	SCN4B	OMIM:611819
HP:0003621	Juvenile onset	859	CAV3	OMIM:611818
HP:0003621	Juvenile onset	859	CAV3	OMIM:606072
HP:0003621	Juvenile onset	859	CAV3	OMIM:614321
HP:0003621	Juvenile onset	5083	PAX9	OMIM:604625
HP:0003621	Juvenile onset	5654	HTRA1	OMIM:600142
HP:0003621	Juvenile onset	2055	CLN8	OMIM:600143
HP:0003621	Juvenile onset	2000	ELF4	OMIM:301074
HP:0003621	Juvenile onset	1536	CYBB	OMIM:306400
HP:0003621	Juvenile onset	1756	DMD	OMIM:302045
HP:0003621	Juvenile onset	6261	RYR1	OMIM:619542
HP:0003621	Juvenile onset	54443	ANLN	OMIM:616032
HP:0003621	Juvenile onset	59345	GNB4	OMIM:615185
HP:0003621	Juvenile onset	23514	SPIDR	OMIM:619665
HP:0003621	Juvenile onset	3980	LIG3	OMIM:619780
HP:0003621	Juvenile onset	79734	KCTD17	OMIM:616398
HP:0003621	Juvenile onset	3508	IGHMBP2	OMIM:616155
HP:0003621	Juvenile onset	113220	KIF12	OMIM:619662
HP:0003621	Juvenile onset	203859	ANO5	OMIM:166260
HP:0003621	Juvenile onset	5426	POLE	OMIM:618336
HP:0003621	Juvenile onset	1642	DDB1	OMIM:619426
HP:0003621	Juvenile onset	10142	AKAP9	OMIM:611820
HP:0003621	Juvenile onset	9138	ARHGEF1	OMIM:618459
HP:0003621	Juvenile onset	389827	MYMK	OMIM:254940
HP:0003621	Juvenile onset	23064	SETX	OMIM:602433
HP:0003621	Juvenile onset	1134	CHRNA1	OMIM:601462
HP:0003621	Juvenile onset	695	BTK	OMIM:300755
HP:0003621	Juvenile onset	4728	NDUFS8	OMIM:618222
HP:0003621	Juvenile onset	4175	MCM6	OMIM:223100
HP:0003621	Juvenile onset	2774	GNAL	OMIM:615073
HP:0003621	Juvenile onset	9210	BMP15	OMIM:300510
HP:0003621	Juvenile onset	50	ACO2	OMIM:616289
HP:0003621	Juvenile onset	79876	UBA5	OMIM:617133
HP:0003621	Juvenile onset	79912	PYROXD1	OMIM:617258
HP:0003621	Juvenile onset	2778	GNAS	OMIM:166350
HP:0003621	Juvenile onset	57122	NUP107	OMIM:618348
HP:0003621	Juvenile onset	57122	NUP107	OMIM:618078
HP:0003621	Juvenile onset	3426	CFI	OMIM:610984
HP:0003621	Juvenile onset	4179	CD46	OMIM:612922
HP:0003621	Juvenile onset	718	C3	OMIM:612925
HP:0003621	Juvenile onset	6442	SGCA	OMIM:608099
HP:0003621	Juvenile onset	55243	KIRREL1	OMIM:619201
HP:0003621	Juvenile onset	5515	PPP2CA	OMIM:618354
HP:0003621	Juvenile onset	84909	AOPEP	OMIM:619565
HP:0003621	Juvenile onset	745	MYRF	OMIM:618113
HP:0003621	Juvenile onset	1436	CSF1R	OMIM:618476
HP:0003621	Juvenile onset	478	ATP1A3	OMIM:601338
HP:0003621	Juvenile onset	478	ATP1A3	OMIM:128235
HP:0003621	Juvenile onset	5610	EIF2AK2	OMIM:619687
HP:0003621	Juvenile onset	3714	JAG2	OMIM:619566
HP:0003621	Juvenile onset	6340	SCNN1G	OMIM:618114
HP:0003621	Juvenile onset	92667	MGME1	OMIM:615084
HP:0003621	Juvenile onset	6096	RORB	OMIM:618357
HP:0003621	Juvenile onset	112755	STX1B	OMIM:616172
HP:0003621	Juvenile onset	4722	NDUFS3	OMIM:618230
HP:0003621	Juvenile onset	23586	RIGI	OMIM:616298
HP:0003621	Juvenile onset	51163	DBR1	OMIM:619441
HP:0003621	Juvenile onset	60509	AGBL5	OMIM:617023
HP:0003621	Juvenile onset	8912	CACNA1H	OMIM:617027
HP:0003621	Juvenile onset	56945	MRPS22	OMIM:618117
HP:0003621	Juvenile onset	3939	LDHA	OMIM:612933
HP:0003621	Juvenile onset	4010	LMX1B	OMIM:256020
HP:0003621	Juvenile onset	54344	DPM3	OMIM:612937
HP:0003621	Juvenile onset	2710	GK	OMIM:307030
HP:0003621	Juvenile onset	10166	SLC25A15	OMIM:238970
HP:0003621	Juvenile onset	427	ASAH1	OMIM:159950
HP:0003621	Juvenile onset	23005	MAPKBP1	OMIM:617271
HP:0003621	Juvenile onset	5071	PRKN	OMIM:600116
HP:0003621	Juvenile onset	4627	MYH9	OMIM:603622
HP:0003621	Juvenile onset	4166	CHST6	OMIM:217800
HP:0003621	Juvenile onset	84061	MAGT1	OMIM:300853
HP:0003621	Juvenile onset	8888	MCM3AP	OMIM:618124
HP:0003621	Juvenile onset	254394	MCM9	OMIM:616185
HP:0003621	Juvenile onset	63910	SLC17A9	OMIM:616063
HP:0003621	Juvenile onset	122622	ADSS1	OMIM:617030
HP:0003621	Juvenile onset	6530	SLC6A2	OMIM:604715
HP:0003621	Juvenile onset	29978	UBQLN2	OMIM:300857
HP:0003621	Juvenile onset	50619	DEF6	OMIM:619573
HP:0003621	Juvenile onset	7275	TUB	OMIM:616188
HP:0003621	Juvenile onset	3746	KCNC1	OMIM:616187
HP:0003621	Juvenile onset	7170	TPM3	OMIM:609284
HP:0003621	Juvenile onset	7169	TPM2	OMIM:609285
HP:0003621	Juvenile onset	4625	MYH7	OMIM:255160
HP:0003621	Juvenile onset	4625	MYH7	OMIM:613426
HP:0003621	Juvenile onset	2218	FKTN	OMIM:611615
HP:0003621	Juvenile onset	2010	EMD	OMIM:310300
HP:0003621	Juvenile onset	6102	RP2	OMIM:312600
HP:0003621	Juvenile onset	4864	NPC1	OMIM:257220
HP:0003621	Juvenile onset	55863	TMEM126B	OMIM:618250
HP:0003621	Juvenile onset	112812	FDX2	OMIM:251900
HP:0003621	Juvenile onset	51102	MECR	OMIM:617282
HP:0003621	Juvenile onset	5611	DNAJC3	OMIM:616192
HP:0003621	Juvenile onset	84892	POMGNT2	OMIM:618135
HP:0003621	Juvenile onset	9757	KMT2B	OMIM:617284
HP:0003621	Juvenile onset	2318	FLNC	OMIM:617047
HP:0003621	Juvenile onset	4015	LOX	OMIM:617168
HP:0003621	Juvenile onset	55340	GIMAP5	OMIM:619463
HP:0003621	Juvenile onset	84705	GTPBP3	OMIM:616198
HP:0003621	Juvenile onset	3908	LAMA2	OMIM:618138
HP:0003621	Juvenile onset	8398	PLA2G6	OMIM:612953
HP:0003621	Juvenile onset	9531	BAG3	OMIM:612954
HP:0003621	Juvenile onset	339829	CCDC39	OMIM:613807
HP:0003621	Juvenile onset	9563	H6PD	OMIM:604931
HP:0003621	Juvenile onset	6338	SCNN1B	OMIM:177200
HP:0003621	Juvenile onset	10205	MPZL2	OMIM:618145
HP:0003621	Juvenile onset	10519	CIB1	OMIM:618267
HP:0003621	Juvenile onset	55213	RCBTB1	OMIM:617175
HP:0003621	Juvenile onset	6424	SFRP4	OMIM:265900
HP:0003621	Juvenile onset	1053	CEBPE	OMIM:260570
HP:0003621	Juvenile onset	55229	PANK4	OMIM:619593
HP:0003621	Juvenile onset	64849	SLC13A3	OMIM:618384
HP:0003621	Juvenile onset	570	BAAT	OMIM:619232
HP:0003621	Juvenile onset	26580	BSCL2	OMIM:619112
HP:0003621	Juvenile onset	26580	BSCL2	OMIM:270685
HP:0003621	Juvenile onset	29927	SEC61A1	OMIM:617056
HP:0003621	Juvenile onset	920	CD4	OMIM:619238
HP:0003621	Juvenile onset	84196	USP48	OMIM:620227
HP:0003621	Juvenile onset	2673	GFPT1	OMIM:610542
HP:0003621	Juvenile onset	286	ANK1	OMIM:182900
HP:0003621	Juvenile onset	2335	FN1	OMIM:601894
HP:0003621	Juvenile onset	8204	NRIP1	OMIM:618270
HP:0003621	Juvenile onset	6573	SLC19A1	OMIM:601775
HP:0003621	Juvenile onset	84868	HAVCR2	OMIM:618398
HP:0003621	Juvenile onset	10483	SEC23B	OMIM:224100
HP:0003621	Juvenile onset	476	ATP1A1	OMIM:618036
HP:0003621	Juvenile onset	5375	PMP2	OMIM:618279
HP:0003621	Juvenile onset	60676	PAPPA2	OMIM:619489
HP:0003621	Juvenile onset	6566	SLC16A1	OMIM:616095
HP:0003621	Juvenile onset	55145	THAP1	OMIM:602629
HP:0003621	Juvenile onset	2273	FHL1	OMIM:300718
HP:0003621	Juvenile onset	3419	IDH3A	OMIM:619007
HP:0003621	Juvenile onset	23516	SLC39A14	OMIM:144755
HP:0003621	Juvenile onset	4322	MMP13	OMIM:250400
HP:0003621	Juvenile onset	6508	SLC4A3	OMIM:620231
HP:0003621	Juvenile onset	801	CALM1	OMIM:614916
HP:0003621	Juvenile onset	26092	TOR1AIP1	OMIM:617072
HP:0003621	Juvenile onset	81624	DIAPH3	OMIM:609129
HP:0003621	Juvenile onset	1497	CTNS	OMIM:219900
HP:0003621	Juvenile onset	1497	CTNS	OMIM:219750
HP:0003621	Juvenile onset	8651	SOCS1	OMIM:619375
HP:0003621	Juvenile onset	85358	SHANK3	OMIM:613950
HP:0003621	Juvenile onset	60386	SLC25A19	OMIM:613710
HP:0003621	Juvenile onset	4094	MAF	OMIM:610202
HP:0003621	Juvenile onset	138050	HGSNAT	OMIM:252930
HP:0003621	Juvenile onset	256472	TMEM151A	OMIM:620245
HP:0003621	Juvenile onset	5354	PLP1	OMIM:312920
HP:0003621	Juvenile onset	1719	DHFR	OMIM:613839
HP:0003621	Juvenile onset	51778	MYOZ2	OMIM:613838
HP:0003621	Juvenile onset	84277	DNAJC30	OMIM:619382
HP:0003621	Juvenile onset	403	ARL3	OMIM:618173
HP:0003621	Juvenile onset	23193	GANAB	OMIM:600666
HP:0003621	Juvenile onset	2296	FOXC1	OMIM:601631
HP:0003621	Juvenile onset	23279	NUP160	OMIM:618178
HP:0003621	Juvenile onset	1604	CD55	OMIM:226300
HP:0003621	Juvenile onset	84842	HPDL	OMIM:619027
HP:0003621	Juvenile onset	23500	DAAM2	OMIM:619263
HP:0003621	Juvenile onset	79902	NUP85	OMIM:618176
HP:0003621	Juvenile onset	8910	SGCE	OMIM:159900
HP:0003621	Juvenile onset	125170	MIEF2	OMIM:619024
HP:0003621	Juvenile onset	55746	NUP133	OMIM:618177
HP:0003621	Juvenile onset	6559	SLC12A3	OMIM:263800
HP:0003621	Juvenile onset	10749	KIF1C	OMIM:611302
HP:0003621	Juvenile onset	90523	MLIP	OMIM:620138
HP:0003621	Juvenile onset	1584	CYP11B1	OMIM:103900
HP:0003621	Juvenile onset	23224	SYNE2	OMIM:612999
HP:0003621	Juvenile onset	9935	MAFB	OMIM:166300
HP:0003621	Juvenile onset	5256	PHKA2	OMIM:306000
HP:0003621	Juvenile onset	6342	SCP2	OMIM:613724
HP:0003621	Juvenile onset	4669	NAGLU	OMIM:252920
HP:0003621	Juvenile onset	64858	DCLRE1B	OMIM:620133
HP:0003621	Juvenile onset	10299	MARCHF6	OMIM:613608
HP:0003621	Juvenile onset	1308	COL17A1	OMIM:122400
HP:0003621	Juvenile onset	55129	ANO10	OMIM:613728
HP:0003621	Juvenile onset	80036	TRPM3	OMIM:620253
HP:0003621	Juvenile onset	773	CACNA1A	OMIM:183086
HP:0003621	Juvenile onset	773	CACNA1A	OMIM:141500
HP:0003621	Juvenile onset	2131	EXT1	OMIM:133700
HP:0003621	Juvenile onset	5376	PMP22	OMIM:118300
HP:0003621	Juvenile onset	5376	PMP22	OMIM:180800
HP:0003621	Juvenile onset	5376	PMP22	OMIM:118220
HP:0003621	Juvenile onset	5376	PMP22	OMIM:162500
HP:0003621	Juvenile onset	2132	EXT2	OMIM:133701
HP:0003621	Juvenile onset	80821	DDHD1	OMIM:609340
HP:0003621	Juvenile onset	5009	OTC	OMIM:311250
HP:0003621	Juvenile onset	785	CACNB4	OMIM:613855
HP:0003621	Juvenile onset	785	CACNB4	OMIM:607682
HP:0003621	Juvenile onset	55851	PSENEN	OMIM:613736
HP:0003621	Juvenile onset	5894	RAF1	OMIM:615916
HP:0003621	Juvenile onset	130557	ZNF513	OMIM:613617
HP:0003621	Juvenile onset	4359	MPZ	OMIM:180800
HP:0003621	Juvenile onset	4359	MPZ	OMIM:118200
HP:0003621	Juvenile onset	5293	PIK3CD	OMIM:619281
HP:0003621	Juvenile onset	7879	RAB7A	OMIM:600882
HP:0003621	Juvenile onset	6840	SVIL	OMIM:619040
HP:0003621	Juvenile onset	538	ATP7A	OMIM:300489
HP:0003621	Juvenile onset	843	CASP10	OMIM:603909
HP:0003621	Juvenile onset	79947	DHDDS	OMIM:613861
HP:0003621	Juvenile onset	1135	CHRNA2	OMIM:610353
HP:0003621	Juvenile onset	55788	LMBRD1	OMIM:277380
HP:0003621	Juvenile onset	9128	PRPF4	OMIM:615922
HP:0003621	Juvenile onset	50940	PDE11A	OMIM:610475
HP:0003621	Juvenile onset	55651	NHP2	OMIM:613987
HP:0003621	Juvenile onset	1824	DSC2	OMIM:610476
HP:0003621	Juvenile onset	54476	RNF216	OMIM:212840
HP:0003621	Juvenile onset	84634	KISS1R	OMIM:614837
HP:0003621	Juvenile onset	7015	TERT	OMIM:613989
HP:0003621	Juvenile onset	58528	RRAGD	OMIM:620152
HP:0003621	Juvenile onset	7298	TYMS	OMIM:620040
HP:0003621	Juvenile onset	51204	TACO1	OMIM:619052
HP:0003621	Juvenile onset	7827	NPHS2	OMIM:600995
HP:0003621	Juvenile onset	5649	RELN	OMIM:600512
HP:0003621	Juvenile onset	64780	MICAL1	OMIM:600512
HP:0003621	Juvenile onset	9211	LGI1	OMIM:600512
HP:0003621	Juvenile onset	64601	VPS16	OMIM:619291
HP:0003621	Juvenile onset	6452	SH3BP2	OMIM:118400
HP:0003621	Juvenile onset	1427	CRYGS	OMIM:116100
HP:0003621	Juvenile onset	116228	COX20	OMIM:619054
HP:0003621	Juvenile onset	6521	SLC4A1	OMIM:179800
HP:0003621	Juvenile onset	26277	TINF2	OMIM:613990
HP:0003621	Juvenile onset	64207	IRF2BPL	OMIM:618088
HP:0003621	Juvenile onset	7040	TGFB1	OMIM:131300
HP:0003621	Juvenile onset	274	BIN1	OMIM:255200
HP:0003621	Juvenile onset	3988	LIPA	OMIM:278000
HP:0003621	Juvenile onset	353	APRT	OMIM:614723
HP:0003621	Juvenile onset	5624	PROC	OMIM:612304
HP:0003621	Juvenile onset	3814	KISS1	OMIM:614842
HP:0003621	Juvenile onset	10939	AFG3L2	OMIM:610246
HP:0003621	Juvenile onset	91624	NEXN	OMIM:613876
HP:0003621	Juvenile onset	5573	PRKAR1A	OMIM:610489
HP:0003621	Juvenile onset	3778	KCNMA1	OMIM:609446
HP:0003621	Juvenile onset	6843	VAMP1	OMIM:108600
HP:0003621	Juvenile onset	256297	PTF1A	OMIM:615935
HP:0003621	Juvenile onset	29967	LRP12	OMIM:164310
HP:0003621	Juvenile onset	64087	MCCC2	OMIM:210210
HP:0003621	Juvenile onset	1854	DUT	OMIM:620044
HP:0003621	Juvenile onset	22	ABCB7	OMIM:301310
HP:0003621	Juvenile onset	100303755	PET117	OMIM:619063
HP:0003621	Juvenile onset	57697	FANCM	OMIM:618096
HP:0003621	Juvenile onset	9750	RIPOR2	OMIM:607017
HP:0003621	Juvenile onset	65055	REEP1	OMIM:610250
HP:0003621	Juvenile onset	65055	REEP1	OMIM:614751
HP:0003621	Juvenile onset	2720	GLB1	OMIM:253010
HP:0003621	Juvenile onset	54805	CNNM2	OMIM:613882
HP:0003621	Juvenile onset	9517	SPTLC2	OMIM:613640
HP:0003621	Juvenile onset	26090	ABHD12	OMIM:612674
HP:0003621	Juvenile onset	55775	TDP1	OMIM:607250
HP:0003621	Juvenile onset	2492	FSHR	OMIM:233300
HP:0003621	Juvenile onset	1729	DIAPH1	OMIM:124900
HP:0003621	Juvenile onset	1600	DAB1	OMIM:615945
HP:0003621	Juvenile onset	388551	CEACAM16	OMIM:614614
HP:0003621	Juvenile onset	6399	TRAPPC2	OMIM:313400
HP:0003621	Juvenile onset	56922	MCCC1	OMIM:210200
HP:0003621	Juvenile onset	9096	TBX18	OMIM:143400
HP:0003621	Juvenile onset	144165	PRICKLE1	OMIM:612437
HP:0003621	Juvenile onset	283375	SLC39A5	OMIM:615946
HP:0003621	Juvenile onset	79152	FA2H	OMIM:612319
HP:0003621	Juvenile onset	113278	SLC52A3	OMIM:211530
HP:0003621	Juvenile onset	80216	ALPK1	OMIM:614979
HP:0003621	Juvenile onset	22953	P2RX2	OMIM:608224
HP:0003621	Juvenile onset	7915	ALDH5A1	OMIM:271980
HP:0003621	Juvenile onset	84138	SLC7A6OS	OMIM:619191
HP:0003621	Juvenile onset	4607	MYBPC3	OMIM:115197
HP:0003621	Juvenile onset	114548	NLRP3	OMIM:191900
HP:0003621	Juvenile onset	114548	NLRP3	OMIM:148200
HP:0003621	Juvenile onset	6774	STAT3	OMIM:615952
HP:0003621	Juvenile onset	5149	PDE6H	OMIM:610024
HP:0003621	Juvenile onset	90624	LYRM7	OMIM:615838
HP:0003621	Juvenile onset	5978	REST	OMIM:616806
HP:0003621	Juvenile onset	5978	REST	OMIM:617626
HP:0003621	Juvenile onset	375748	ERCC6L2	OMIM:615715
HP:0003621	Juvenile onset	80704	SLC19A3	OMIM:607483
HP:0003621	Juvenile onset	80025	PANK2	OMIM:234200
HP:0003621	Juvenile onset	80025	PANK2	OMIM:607236
HP:0003621	Juvenile onset	1188	CLCNKB	OMIM:607364
HP:0003621	Juvenile onset	23175	LPIN1	OMIM:268200
HP:0003621	Juvenile onset	492	ATP2B3	OMIM:302500
HP:0003621	Juvenile onset	3251	HPRT1	OMIM:300322
HP:0003621	Juvenile onset	190	NR0B1	OMIM:300200
HP:0003621	Juvenile onset	3208	HPCA	OMIM:224500
HP:0003621	Juvenile onset	1294	COL7A1	OMIM:131850
HP:0003621	Juvenile onset	9896	FIG4	OMIM:612691
HP:0003621	Juvenile onset	5428	POLG	OMIM:613662
HP:0003621	Juvenile onset	5428	POLG	OMIM:607459
HP:0003621	Juvenile onset	5428	POLG	OMIM:603041
HP:0003621	Juvenile onset	5192	PEX10	OMIM:614871
HP:0003621	Juvenile onset	2512	FTL	OMIM:615604
HP:0003621	Juvenile onset	11149	BVES	OMIM:616812
HP:0003621	Juvenile onset	1811	SLC26A3	OMIM:214700
HP:0003621	Juvenile onset	29110	TBK1	OMIM:617900
HP:0003621	Juvenile onset	7274	TTPA	OMIM:277460
HP:0003621	Juvenile onset	112476	PRRT2	OMIM:128200
HP:0003621	Juvenile onset	112476	PRRT2	OMIM:602066
HP:0003621	Juvenile onset	5191	PEX7	OMIM:614879
HP:0003621	Juvenile onset	6742	SSBP1	OMIM:165510
HP:0003621	Juvenile onset	6204	RPS10	OMIM:613308
HP:0003621	Juvenile onset	1186	CLCN7	OMIM:166600
HP:0003621	Juvenile onset	7234	TRU-TCA1-1	OMIM:620198
HP:0003621	Juvenile onset	7369	UMOD	OMIM:162000
HP:0003621	Juvenile onset	81031	SLC2A10	OMIM:208050
HP:0003621	Juvenile onset	5230	PGK1	OMIM:300653
HP:0003621	Juvenile onset	2717	GLA	OMIM:301500
HP:0003621	Juvenile onset	10002	NR2E3	OMIM:611131
HP:0003621	Juvenile onset	10661	KLF1	OMIM:613673
HP:0003621	Juvenile onset	5167	ENPP1	OMIM:613312
HP:0003621	Juvenile onset	445	ASS1	OMIM:215700
HP:0003621	Juvenile onset	1535	CYBA	OMIM:233690
HP:0003621	Juvenile onset	57704	GBA2	OMIM:614409
HP:0003621	Juvenile onset	29119	CTNNA3	OMIM:615616
HP:0003621	Juvenile onset	3752	KCND3	OMIM:607346
HP:0003621	Juvenile onset	7045	TGFBI	OMIM:121820
HP:0003621	Juvenile onset	7045	TGFBI	OMIM:607541
HP:0003621	Juvenile onset	26353	HSPB8	OMIM:608673
HP:0003621	Juvenile onset	23479	ISCU	OMIM:255125
HP:0003621	Juvenile onset	4313	MMP2	OMIM:259600
HP:0003621	Juvenile onset	56652	TWNK	OMIM:607459
HP:0003621	Juvenile onset	8481	OFD1	OMIM:300424
HP:0003621	Juvenile onset	51004	COQ6	OMIM:614650
HP:0003621	Juvenile onset	10457	GPNMB	OMIM:617920
HP:0003621	Juvenile onset	51308	REEP2	OMIM:615625
HP:0003621	Juvenile onset	22858	CILK1	OMIM:617924
HP:0003621	Juvenile onset	57165	GJC2	OMIM:613206
HP:0003621	Juvenile onset	57165	GJC2	OMIM:613480
HP:0003621	Juvenile onset	3371	TNC	OMIM:615629
HP:0003621	Juvenile onset	10382	TUBB4A	OMIM:128101
HP:0003621	Juvenile onset	23534	TNPO3	OMIM:608423
HP:0003621	Juvenile onset	113457	TUBA3D	OMIM:617928
HP:0003621	Juvenile onset	6323	SCN1A	OMIM:609634
HP:0003621	Juvenile onset	57094	CPA6	OMIM:614417
HP:0003621	Juvenile onset	1785	DNM2	OMIM:606482
HP:0003621	Juvenile onset	865	CBFB	OMIM:620099
HP:0003621	Juvenile onset	55703	POLR3B	OMIM:607694
HP:0003621	Juvenile onset	11128	POLR3A	OMIM:607694
HP:0003621	Juvenile onset	3736	KCNA1	OMIM:160120
HP:0003621	Juvenile onset	201294	UNC13D	OMIM:608898
HP:0003621	Juvenile onset	1121	CHM	OMIM:303100
HP:0003621	Juvenile onset	92935	MARS2	OMIM:611390
HP:0003621	Juvenile onset	631	BFSP1	OMIM:611391
HP:0003621	Juvenile onset	25923	ATL3	OMIM:615632
HP:0003621	Juvenile onset	4688	NCF2	OMIM:233710
HP:0003621	Juvenile onset	114327	EFHC1	OMIM:254770
HP:0003621	Juvenile onset	114327	EFHC1	OMIM:607631
HP:0003621	Juvenile onset	3290	HSD11B1	OMIM:614662
HP:0003621	Juvenile onset	1776	DNASE1L3	OMIM:614420
HP:0003621	Juvenile onset	23394	ADNP	OMIM:615873
HP:0003621	Juvenile onset	6513	SLC2A1	OMIM:612126
HP:0003621	Juvenile onset	11133	KPTN	OMIM:615637
HP:0003621	Juvenile onset	4803	NGF	OMIM:608654
HP:0003621	Juvenile onset	4747	NEFL	OMIM:607684
HP:0003621	Juvenile onset	4747	NEFL	OMIM:607734
HP:0003621	Juvenile onset	4747	NEFL	OMIM:617882
HP:0003621	Juvenile onset	2200	FBN1	OMIM:129600
HP:0003621	Juvenile onset	1959	EGR2	OMIM:607678
HP:0003621	Juvenile onset	54768	HYDIN	OMIM:608647
HP:0003621	Juvenile onset	1822	ATN1	OMIM:125370
HP:0003621	Juvenile onset	50939	IMPG2	OMIM:613581
HP:0003621	Juvenile onset	1829	DSG2	OMIM:610193
HP:0003621	Juvenile onset	1806	DPYD	OMIM:274270
HP:0003621	Juvenile onset	440275	EIF2AK4	OMIM:234810
HP:0003621	Juvenile onset	137682	NDUFAF6	OMIM:618913
HP:0003621	Juvenile onset	84876	ORAI1	OMIM:615883
HP:0003621	Juvenile onset	6900	CNTN2	OMIM:615400
HP:0003621	Juvenile onset	57505	AARS2	OMIM:615889
HP:0003621	Juvenile onset	10758	TRAF3IP2	OMIM:615527
HP:0003621	Juvenile onset	6443	SGCB	OMIM:604286
HP:0003621	Juvenile onset	9829	DNAJC6	OMIM:615528
HP:0003621	Juvenile onset	3784	KCNQ1	OMIM:607554
HP:0003621	Juvenile onset	64135	IFIH1	OMIM:182250
HP:0003621	Juvenile onset	3643	INSR	OMIM:609968
HP:0003621	Juvenile onset	727676	SNORD118	OMIM:614561
HP:0003621	Juvenile onset	54885	TBC1D8B	OMIM:301028
HP:0003621	Juvenile onset	6578	SLCO2A1	OMIM:614441
HP:0003621	Juvenile onset	7128	TNFAIP3	OMIM:616744
HP:0003621	Juvenile onset	2072	ERCC4	OMIM:278760
HP:0003621	Juvenile onset	10560	SLC19A2	OMIM:249270
HP:0003621	Juvenile onset	29893	PSMC3IP	OMIM:614324
HP:0003621	Juvenile onset	2058	EPRS1	OMIM:617951
HP:0003621	Juvenile onset	102	ADAM10	OMIM:615537
HP:0003621	Juvenile onset	1000	CDH2	OMIM:618920
HP:0003621	Juvenile onset	54463	RETREG1	OMIM:613115
HP:0003621	Juvenile onset	5837	PYGM	OMIM:232600
HP:0003621	Juvenile onset	26525	IL36RN	OMIM:614204
HP:0003621	Juvenile onset	708	C1QBP	OMIM:617713
HP:0003621	Juvenile onset	4634	MYL3	OMIM:608751
HP:0003621	Juvenile onset	2232	FDXR	OMIM:617717
HP:0003621	Juvenile onset	3759	KCNJ2	OMIM:170390
HP:0003621	Juvenile onset	4361	MRE11	OMIM:604391
HP:0003621	Juvenile onset	80208	SPG11	OMIM:602099
HP:0003621	Juvenile onset	80208	SPG11	OMIM:604360
HP:0003621	Juvenile onset	80208	SPG11	OMIM:616668
HP:0003621	Juvenile onset	23400	ATP13A2	OMIM:606693
HP:0003621	Juvenile onset	9420	CYP7B1	OMIM:270800
HP:0003621	Juvenile onset	7046	TGFBR1	OMIM:132800
HP:0003621	Juvenile onset	3868	KRT16	OMIM:613000
HP:0003621	Juvenile onset	55857	KIZ	OMIM:615780
HP:0003621	Juvenile onset	7098	TLR3	OMIM:613002
HP:0003621	Juvenile onset	547	KIF1A	OMIM:614213
HP:0003621	Juvenile onset	64423	INF2	OMIM:614455
HP:0003621	Juvenile onset	7289	TULP3	OMIM:619902
HP:0003621	Juvenile onset	7134	TNNC1	OMIM:613243
HP:0003621	Juvenile onset	8884	SLC5A6	OMIM:619903
HP:0003621	Juvenile onset	7453	WARS1	OMIM:617721
HP:0003621	Juvenile onset	23152	CIC	OMIM:617600
HP:0003621	Juvenile onset	149461	CLDN19	OMIM:248190
HP:0003621	Juvenile onset	10320	IKZF1	OMIM:616873
HP:0003621	Juvenile onset	2224	FDPS	OMIM:616631
HP:0003621	Juvenile onset	88	ACTN2	OMIM:612158
HP:0003621	Juvenile onset	653361	NCF1	OMIM:233700
HP:0003621	Juvenile onset	6444	SGCD	OMIM:606685
HP:0003621	Juvenile onset	10568	SLC34A2	OMIM:265100
HP:0003621	Juvenile onset	930	CD19	OMIM:613493
HP:0003621	Juvenile onset	3702	ITK	OMIM:613011
HP:0003621	Juvenile onset	2588	GALNS	OMIM:253000
HP:0003621	Juvenile onset	199221	DZIP1L	OMIM:617610
HP:0003621	Juvenile onset	5205	ATP8B1	OMIM:211600
HP:0003621	Juvenile onset	1890	TYMP	OMIM:603041
HP:0003621	Juvenile onset	7043	TGFB3	OMIM:107970
HP:0003621	Juvenile onset	1495	CTNNA1	OMIM:608970
HP:0003621	Juvenile onset	11235	PDCD10	OMIM:603285
HP:0003621	Juvenile onset	7507	XPA	OMIM:278700
HP:0003621	Juvenile onset	5468	PPARG	OMIM:604367
HP:0003621	Juvenile onset	3075	CFH	OMIM:609814
HP:0003621	Juvenile onset	51816	ADA2	OMIM:615688
HP:0003621	Juvenile onset	10319	LAMC3	OMIM:614115
HP:0003621	Juvenile onset	491	ATP2B2	OMIM:619804
HP:0003621	Juvenile onset	3661	IRF3	OMIM:616532
HP:0003621	Juvenile onset	1293	COL6A3	OMIM:616411
HP:0003621	Juvenile onset	51364	ZMYND10	OMIM:615444
HP:0003621	Juvenile onset	219285	SAMD9L	OMIM:619806
HP:0003621	Juvenile onset	5261	PHKG2	OMIM:613027
HP:0003621	Juvenile onset	5294	PIK3CG	OMIM:619802
HP:0003621	Juvenile onset	8292	COLQ	OMIM:603034
HP:0003621	Juvenile onset	9516	LITAF	OMIM:601098
HP:0003621	Juvenile onset	4131	MAP1B	OMIM:619808
HP:0003621	Juvenile onset	29929	ALG6	OMIM:603147
HP:0003621	Juvenile onset	3708	ITPR1	OMIM:606658
HP:0003621	Juvenile onset	3094	HINT1	OMIM:137200
HP:0003621	Juvenile onset	24	ABCA4	OMIM:604116
HP:0003621	Juvenile onset	3920	LAMP2	OMIM:300257
HP:0003621	Juvenile onset	6529	SLC6A1	OMIM:616421
HP:0003621	Juvenile onset	79934	COQ8B	OMIM:615573
HP:0003621	Juvenile onset	84823	LMNB2	OMIM:616540
HP:0003621	Juvenile onset	84823	LMNB2	OMIM:608709
HP:0003621	Juvenile onset	5538	PPT1	OMIM:256730
HP:0003621	Juvenile onset	8575	PRKRA	OMIM:612067
HP:0003621	Juvenile onset	3454	IFNAR1	OMIM:619935
HP:0003621	Juvenile onset	1203	CLN5	OMIM:256731
HP:0003621	Juvenile onset	55624	POMGNT1	OMIM:613157
HP:0003621	Juvenile onset	23250	ATP11A	OMIM:619810
HP:0003621	Juvenile onset	57728	WDR19	OMIM:616307
HP:0003621	Juvenile onset	57728	WDR19	OMIM:614377
HP:0003621	Juvenile onset	79784	MYH14	OMIM:614369
HP:0003621	Juvenile onset	23533	PIK3R5	OMIM:615217
HP:0003621	Juvenile onset	51422	PRKAG2	OMIM:194200
HP:0003621	Juvenile onset	8086	AAAS	OMIM:231550
HP:0003621	Juvenile onset	8139	GAN	OMIM:256850
HP:0003621	Juvenile onset	2639	GCDH	OMIM:231670
HP:0003621	Juvenile onset	6609	SMPD1	OMIM:607616
HP:0003621	Juvenile onset	846	CASR	OMIM:601198
HP:0003621	Juvenile onset	4093	SMAD9	OMIM:615342
HP:0003621	Juvenile onset	857	CAV1	OMIM:615343
HP:0003621	Juvenile onset	22978	NT5C2	OMIM:613162
HP:0003621	Juvenile onset	79587	CARS2	OMIM:616672
HP:0003621	Juvenile onset	7137	TNNI3	OMIM:613286
HP:0003621	Juvenile onset	4643	MYO1E	OMIM:614131
HP:0003621	Juvenile onset	10654	PMVK	OMIM:175800
HP:0003621	Juvenile onset	16	AARS1	OMIM:613287
HP:0003621	Juvenile onset	3777	KCNK3	OMIM:615344
HP:0003621	Juvenile onset	55367	PIDD1	OMIM:619827
HP:0003621	Juvenile onset	1297	COL9A1	OMIM:614135
HP:0003621	Juvenile onset	55753	OGDHL	OMIM:619701
HP:0003621	Juvenile onset	6786	STIM1	OMIM:160565
HP:0003621	Juvenile onset	285489	DOK7	OMIM:254300
HP:0003581	Adult onset	401474	SAMD12	OMIM:601068
HP:0003581	Adult onset	51726	DNAJB11	OMIM:618061
HP:0003581	Adult onset	23646	PLD3	OMIM:617770
HP:0003581	Adult onset	735	C9	OMIM:615591
HP:0003581	Adult onset	5949	RBP3	OMIM:615233
HP:0003581	Adult onset	25913	POT1	OMIM:616568
HP:0003581	Adult onset	25913	POT1	OMIM:615848
HP:0003581	Adult onset	8291	DYSF	OMIM:254130
HP:0003581	Adult onset	5009	OTC	OMIM:311250
HP:0003581	Adult onset	2153	F5	OMIM:600880
HP:0003581	Adult onset	2153	F5	OMIM:188055
HP:0003581	Adult onset	2153	F5	OMIM:601367
HP:0003581	Adult onset	27327	TNRC6A	OMIM:618074
HP:0003581	Adult onset	2767	GNA11	OMIM:615361
HP:0003581	Adult onset	9693	RAPGEF2	OMIM:618075
HP:0003581	Adult onset	64072	CDH23	OMIM:617540
HP:0003581	Adult onset	101060691	NUTM2B-AS1	OMIM:618637
HP:0003581	Adult onset	4790	NFKB1	OMIM:616576
HP:0003581	Adult onset	10165	SLC25A13	OMIM:603471
HP:0003581	Adult onset	2642	GCGR	OMIM:619290
HP:0003581	Adult onset	23347	SMCHD1	OMIM:158901
HP:0003581	Adult onset	6794	STK11	OMIM:260350
HP:0003581	Adult onset	3845	KRAS	OMIM:260350
HP:0003581	Adult onset	4089	SMAD4	OMIM:260350
HP:0003581	Adult onset	283677	REC114	OMIM:619176
HP:0003581	Adult onset	6575	SLC20A2	OMIM:213600
HP:0003581	Adult onset	9639	ARHGEF10	OMIM:608236
HP:0003581	Adult onset	9499	MYOT	OMIM:609200
HP:0003581	Adult onset	7276	TTR	OMIM:105210
HP:0003581	Adult onset	10273	STUB1	OMIM:618093
HP:0003581	Adult onset	6687	SPG7	OMIM:607259
HP:0003581	Adult onset	11232	POLG2	OMIM:610131
HP:0003581	Adult onset	56922	MCCC1	OMIM:210200
HP:0003581	Adult onset	54840	APTX	OMIM:208920
HP:0003581	Adult onset	4582	MUC1	OMIM:174000
HP:0003581	Adult onset	29880	ALG5	OMIM:620056
HP:0003581	Adult onset	2259	FGF14	OMIM:620174
HP:0003581	Adult onset	1938	EEF2	OMIM:609306
HP:0003581	Adult onset	1763	DNA2	OMIM:615156
HP:0003581	Adult onset	11277	TREX1	OMIM:192315
HP:0003581	Adult onset	5076	PAX2	OMIM:616002
HP:0003581	Adult onset	7012	TERC	OMIM:614743
HP:0003581	Adult onset	79798	ARMC5	OMIM:615954
HP:0003581	Adult onset	8557	TCAP	OMIM:607487
HP:0003581	Adult onset	54440	SASH3	OMIM:301082
HP:0003581	Adult onset	8048	CSRP3	OMIM:607482
HP:0003581	Adult onset	8048	CSRP3	OMIM:612124
HP:0003581	Adult onset	4040	LRP6	OMIM:610947
HP:0003581	Adult onset	3931	LCAT	OMIM:245900
HP:0003581	Adult onset	51750	RTEL1	OMIM:616373
HP:0003581	Adult onset	5073	PARN	OMIM:616371
HP:0003581	Adult onset	80206	FHOD3	OMIM:619402
HP:0003581	Adult onset	9247	GCM2	OMIM:617343
HP:0003581	Adult onset	2301	FOXE3	OMIM:617349
HP:0003581	Adult onset	23400	ATP13A2	OMIM:617225
HP:0003581	Adult onset	4625	MYH7	OMIM:613426
HP:0003581	Adult onset	866	SERPINA6	OMIM:611489
HP:0003581	Adult onset	4205	MEF2A	OMIM:608320
HP:0003581	Adult onset	57104	PNPLA2	OMIM:610717
HP:0003581	Adult onset	1769	DNAH8	OMIM:619095
HP:0003581	Adult onset	9180	OSMR	OMIM:105250
HP:0003581	Adult onset	2147	F2	OMIM:601367
HP:0003581	Adult onset	4846	NOS3	OMIM:601367
HP:0003581	Adult onset	4846	NOS3	OMIM:104300
HP:0003581	Adult onset	5583	PRKCH	OMIM:601367
HP:0003581	Adult onset	241	ALOX5AP	OMIM:601367
HP:0003581	Adult onset	4087	SMAD2	OMIM:619656
HP:0003581	Adult onset	775	CACNA1C	OMIM:618447
HP:0003581	Adult onset	64241	ABCG8	OMIM:210250
HP:0003581	Adult onset	7248	TSC1	OMIM:607341
HP:0003581	Adult onset	7249	TSC2	OMIM:607341
HP:0003581	Adult onset	2475	MTOR	OMIM:607341
HP:0003581	Adult onset	6330	SCN4B	OMIM:611819
HP:0003581	Adult onset	3617	IMPG1	OMIM:616151
HP:0003581	Adult onset	5424	POLD1	OMIM:612591
HP:0003581	Adult onset	11231	SEC63	OMIM:617004
HP:0003581	Adult onset	6872	TAF1	OMIM:314250
HP:0003581	Adult onset	5426	POLE	OMIM:618336
HP:0003581	Adult onset	5426	POLE	OMIM:615083
HP:0003581	Adult onset	57592	ZNF687	OMIM:616833
HP:0003581	Adult onset	23534	TNPO3	OMIM:608423
HP:0003581	Adult onset	2157	F8	OMIM:301071
HP:0003581	Adult onset	2934	GSN	OMIM:105120
HP:0003581	Adult onset	6310	ATXN1	OMIM:164400
HP:0003581	Adult onset	8322	FZD4	OMIM:133780
HP:0003581	Adult onset	4041	LRP5	OMIM:133780
HP:0003581	Adult onset	10020	GNE	OMIM:605820
HP:0003581	Adult onset	2774	GNAL	OMIM:615073
HP:0003581	Adult onset	126129	CPT1C	OMIM:616282
HP:0003581	Adult onset	6390	SDHB	OMIM:115310
HP:0003581	Adult onset	8076	MFAP5	OMIM:616166
HP:0003581	Adult onset	1356	CP	OMIM:604290
HP:0003581	Adult onset	2778	GNAS	OMIM:219080
HP:0003581	Adult onset	3081	HGD	OMIM:203500
HP:0003581	Adult onset	23345	SYNE1	OMIM:610743
HP:0003581	Adult onset	4353	MPO	OMIM:104300
HP:0003581	Adult onset	3077	HFE	OMIM:104300
HP:0003581	Adult onset	5328	PLAU	OMIM:104300
HP:0003581	Adult onset	2495	FTH1	OMIM:615517
HP:0003581	Adult onset	4001	LMNB1	OMIM:169500
HP:0003581	Adult onset	27235	COQ2	OMIM:146500
HP:0003581	Adult onset	718	C3	OMIM:612925
HP:0003581	Adult onset	669	BPGM	OMIM:222800
HP:0003581	Adult onset	1837	DTNA	OMIM:604169
HP:0003581	Adult onset	1743	DLST	OMIM:618475
HP:0003581	Adult onset	518	ATP5MC3	OMIM:619681
HP:0003581	Adult onset	4771	NF2	OMIM:162091
HP:0003581	Adult onset	4771	NF2	OMIM:607174
HP:0003581	Adult onset	6598	SMARCB1	OMIM:162091
HP:0003581	Adult onset	5244	ABCB4	OMIM:600803
HP:0003581	Adult onset	2784	GNB3	OMIM:617024
HP:0003581	Adult onset	123624	AGBL1	OMIM:615523
HP:0003581	Adult onset	4363	ABCC1	OMIM:618915
HP:0003581	Adult onset	2027	ENO3	OMIM:612932
HP:0003581	Adult onset	54344	DPM3	OMIM:612937
HP:0003581	Adult onset	2710	GK	OMIM:307030
HP:0003581	Adult onset	6391	SDHC	OMIM:605373
HP:0003581	Adult onset	8915	BCL10	OMIM:137245
HP:0003581	Adult onset	4633	MYL2	OMIM:608758
HP:0003581	Adult onset	54885	TBC1D8B	OMIM:301028
HP:0003581	Adult onset	55737	VPS35	OMIM:614203
HP:0003581	Adult onset	79628	SH3TC2	OMIM:613353
HP:0003581	Adult onset	56244	BTNL2	OMIM:612387
HP:0003581	Adult onset	291	SLC25A4	OMIM:609283
HP:0003581	Adult onset	64423	INF2	OMIM:613237
HP:0003581	Adult onset	3273	HRG	OMIM:613116
HP:0003581	Adult onset	549	AUH	OMIM:250950
HP:0003581	Adult onset	2771	GNAI2	OMIM:192605
HP:0003581	Adult onset	11315	PARK7	OMIM:606324
HP:0003581	Adult onset	219972	MPEG1	OMIM:619223
HP:0003581	Adult onset	7046	TGFBR1	OMIM:132800
HP:0003581	Adult onset	51428	DDX41	OMIM:616871
HP:0003581	Adult onset	5981	RFC1	OMIM:614575
HP:0003581	Adult onset	3908	LAMA2	OMIM:618138
HP:0003581	Adult onset	130951	M1AP	OMIM:619108
HP:0003581	Adult onset	81790	RNF170	OMIM:608984
HP:0003581	Adult onset	595	CCND1	OMIM:254500
HP:0003581	Adult onset	3981	LIG4	OMIM:254500
HP:0003581	Adult onset	5137	PDE1C	OMIM:618140
HP:0003581	Adult onset	11284	PNKP	OMIM:605589
HP:0003581	Adult onset	81857	MED25	OMIM:605589
HP:0003581	Adult onset	55213	RCBTB1	OMIM:617175
HP:0003581	Adult onset	6424	SFRP4	OMIM:265900
HP:0003581	Adult onset	1789	DNMT3B	OMIM:619478
HP:0003581	Adult onset	6336	SCN10A	OMIM:615551
HP:0003581	Adult onset	8216	LZTR1	OMIM:615670
HP:0003581	Adult onset	115650	TNFRSF13C	OMIM:613494
HP:0003581	Adult onset	26580	BSCL2	OMIM:619112
HP:0003581	Adult onset	6935	ZEB1	OMIM:609141
HP:0003581	Adult onset	5592	PRKG1	OMIM:615436
HP:0003581	Adult onset	1639	DCTN1	OMIM:607641
HP:0003581	Adult onset	1639	DCTN1	OMIM:105400
HP:0003581	Adult onset	1639	DCTN1	OMIM:168605
HP:0003581	Adult onset	7345	UCHL1	OMIM:620221
HP:0003581	Adult onset	5589	PRKCSH	OMIM:174050
HP:0003581	Adult onset	203228	C9orf72	OMIM:105550
HP:0003581	Adult onset	54949	SDHAF2	OMIM:601650
HP:0003581	Adult onset	56910	STARD7	OMIM:607876
HP:0003581	Adult onset	5728	PTEN	OMIM:158350
HP:0003581	Adult onset	5728	PTEN	OMIM:607174
HP:0003581	Adult onset	7504	XK	OMIM:300842
HP:0003581	Adult onset	476	ATP1A1	OMIM:618036
HP:0003581	Adult onset	7222	TRPC3	OMIM:616410
HP:0003581	Adult onset	10699	CORIN	OMIM:614595
HP:0003581	Adult onset	2956	MSH6	OMIM:614350
HP:0003581	Adult onset	9213	XPR1	OMIM:616413
HP:0003581	Adult onset	6925	TCF4	OMIM:613267
HP:0003581	Adult onset	4913	NTHL1	OMIM:616415
HP:0003581	Adult onset	10342	TFG	OMIM:604484
HP:0003581	Adult onset	3728	JUP	OMIM:611528
HP:0003581	Adult onset	3708	ITPR1	OMIM:606658
HP:0003581	Adult onset	1756	DMD	OMIM:300376
HP:0003581	Adult onset	3123	HLA-DRB1	OMIM:181000
HP:0003581	Adult onset	3123	HLA-DRB1	OMIM:126200
HP:0003581	Adult onset	4221	MEN1	OMIM:131100
HP:0003581	Adult onset	56172	ANKH	OMIM:118600
HP:0003581	Adult onset	56983	POGLUT1	OMIM:615696
HP:0003581	Adult onset	7056	THBD	OMIM:614486
HP:0003581	Adult onset	6522	SLC4A2	OMIM:620366
HP:0003581	Adult onset	4668	NAGA	OMIM:609242
HP:0003581	Adult onset	65057	ACD	OMIM:616553
HP:0003581	Adult onset	6041	RNASEL	OMIM:601518
HP:0003581	Adult onset	159686	CFAP58	OMIM:619144
HP:0003581	Adult onset	999	CDH1	OMIM:137215
HP:0003581	Adult onset	5277	PIGA	OMIM:300818
HP:0003581	Adult onset	5290	PIK3CA	OMIM:615108
HP:0003581	Adult onset	207	AKT1	OMIM:615109
HP:0003581	Adult onset	367	AR	OMIM:313200
HP:0003581	Adult onset	1584	CYP11B1	OMIM:103900
HP:0003581	Adult onset	6647	SOD1	OMIM:105400
HP:0003581	Adult onset	5630	PRPH	OMIM:105400
HP:0003581	Adult onset	4744	NEFH	OMIM:105400
HP:0003581	Adult onset	9987	HNRNPDL	OMIM:609115
HP:0003581	Adult onset	4330	MN1	OMIM:607174
HP:0003581	Adult onset	51684	SUFU	OMIM:607174
HP:0003581	Adult onset	6605	SMARCE1	OMIM:607174
HP:0003581	Adult onset	5133	PDCD1	OMIM:126200
HP:0003581	Adult onset	6786	STIM1	OMIM:160565
HP:0003581	Adult onset	114902	C1QTNF5	OMIM:605670
HP:0003581	Adult onset	146227	BEAN1	OMIM:117210
HP:0003581	Adult onset	6208	RPS14	OMIM:153550
HP:0003581	Adult onset	79188	TMEM43	OMIM:619832
HP:0003581	Adult onset	3875	KRT18	OMIM:215600
HP:0003581	Adult onset	6311	ATXN2	OMIM:183090
HP:0003581	Adult onset	6311	ATXN2	OMIM:168600
HP:0003581	Adult onset	644	BLVRA	OMIM:614156
HP:0003581	Adult onset	83872	HMCN1	OMIM:603075
HP:0003581	Adult onset	3078	CFHR1	OMIM:603075
HP:0003581	Adult onset	10878	CFHR3	OMIM:603075
HP:0003581	Adult onset	11155	LDB3	OMIM:609452
HP:0003581	Adult onset	146057	TTBK2	OMIM:604432
HP:0003581	Adult onset	3818	KLKB1	OMIM:612423
HP:0003581	Adult onset	708	C1QBP	OMIM:617713
HP:0003581	Adult onset	2332	FMR1	OMIM:300623
HP:0003581	Adult onset	7156	TOP3A	OMIM:618098
HP:0003581	Adult onset	10347	ABCA7	OMIM:608907
HP:0003581	Adult onset	4607	MYBPC3	OMIM:615396
HP:0003581	Adult onset	79719	AAGAB	OMIM:148600
HP:0003581	Adult onset	8204	NRIP1	OMIM:618270
HP:0003581	Adult onset	6934	TCF7L2	OMIM:125853
HP:0003581	Adult onset	2645	GCK	OMIM:125853
HP:0003581	Adult onset	3172	HNF4A	OMIM:125853
HP:0003581	Adult onset	3569	IL6	OMIM:125853
HP:0003581	Adult onset	3990	LIPC	OMIM:125853
HP:0003581	Adult onset	6927	HNF1A	OMIM:125853
HP:0003581	Adult onset	9479	MAPK8IP1	OMIM:125853
HP:0003581	Adult onset	56729	RETN	OMIM:125853
HP:0003581	Adult onset	4544	MTNR1B	OMIM:125853
HP:0003581	Adult onset	5506	PPP1R3A	OMIM:125853
HP:0003581	Adult onset	7466	WFS1	OMIM:125853
HP:0003581	Adult onset	208	AKT2	OMIM:125853
HP:0003581	Adult onset	3651	PDX1	OMIM:125853
HP:0003581	Adult onset	6833	ABCC8	OMIM:125853
HP:0003581	Adult onset	10644	IGF2BP2	OMIM:125853
HP:0003581	Adult onset	5167	ENPP1	OMIM:125853
HP:0003581	Adult onset	5770	PTPN1	OMIM:125853
HP:0003581	Adult onset	8660	IRS2	OMIM:125853
HP:0003581	Adult onset	3159	HMGA1	OMIM:125853
HP:0003581	Adult onset	5078	PAX4	OMIM:125853
HP:0003581	Adult onset	6928	HNF1B	OMIM:125853
HP:0003581	Adult onset	3667	IRS1	OMIM:125853
HP:0003581	Adult onset	5468	PPARG	OMIM:125853
HP:0003581	Adult onset	4760	NEUROD1	OMIM:125853
HP:0003581	Adult onset	169026	SLC30A8	OMIM:125853
HP:0003581	Adult onset	2820	GPD2	OMIM:125853
HP:0003581	Adult onset	6514	SLC2A2	OMIM:125853
HP:0003581	Adult onset	8106	PABPN1	OMIM:164300
HP:0003581	Adult onset	120892	LRRK2	OMIM:607060
HP:0003581	Adult onset	23435	TARDBP	OMIM:612069
HP:0003581	Adult onset	54443	ANLN	OMIM:616032
HP:0003581	Adult onset	2747	GLUD2	OMIM:168600
HP:0003581	Adult onset	126	ADH1C	OMIM:168600
HP:0003581	Adult onset	2629	GBA1	OMIM:168600
HP:0003581	Adult onset	4929	NR4A2	OMIM:168600
HP:0003581	Adult onset	4576	MT-TT	OMIM:168600
HP:0003581	Adult onset	9627	SNCAIP	OMIM:168600
HP:0003581	Adult onset	6315	ATXN8OS	OMIM:168600
HP:0003581	Adult onset	4292	MLH1	OMIM:158320
HP:0003581	Adult onset	4436	MSH2	OMIM:158320
HP:0003581	Adult onset	6622	SNCA	OMIM:605543
HP:0003581	Adult onset	1410	CRYAB	OMIM:608810
HP:0003581	Adult onset	1410	CRYAB	OMIM:615184
HP:0003581	Adult onset	7384	UQCRC1	OMIM:619279
HP:0003581	Adult onset	6331	SCN5A	OMIM:614022
HP:0003581	Adult onset	583	BBS2	OMIM:616562
HP:0003581	Adult onset	4750	NEK1	OMIM:617892
HP:0003581	Adult onset	8573	CASK	OMIM:300908
HP:0003581	Adult onset	2539	G6PD	OMIM:300908
HP:0003581	Adult onset	9782	MATR3	OMIM:606070
HP:0003581	Adult onset	7415	VCP	OMIM:616687
HP:0003581	Adult onset	7415	VCP	OMIM:167320
HP:0003581	Adult onset	7415	VCP	OMIM:613954
HP:0003581	Adult onset	3910	LAMA4	OMIM:615235
HP:0003581	Adult onset	400916	CHCHD10	OMIM:615911
HP:0003581	Adult onset	400916	CHCHD10	OMIM:615048
HP:0003581	Adult onset	7277	TUBA4A	OMIM:616208
HP:0003581	Adult onset	5165	PDK3	OMIM:300905
HP:0003581	Adult onset	3703	STT3A	OMIM:619714
HP:0003581	Adult onset	5894	RAF1	OMIM:615916
HP:0003581	Adult onset	5155	PDGFB	OMIM:615483
HP:0003581	Adult onset	70	ACTC1	OMIM:612098
HP:0003581	Adult onset	70	ACTC1	OMIM:613424
HP:0003581	Adult onset	84665	MYPN	OMIM:615248
HP:0003581	Adult onset	84665	MYPN	OMIM:617336
HP:0003581	Adult onset	3759	KCNJ2	OMIM:613980
HP:0003581	Adult onset	54982	CLN6	OMIM:204300
HP:0003581	Adult onset	1824	DSC2	OMIM:610476
HP:0003581	Adult onset	5159	PDGFRB	OMIM:615007
HP:0003581	Adult onset	4884	NPTX1	OMIM:620158
HP:0003581	Adult onset	7015	TERT	OMIM:613989
HP:0003581	Adult onset	55034	MOCOS	OMIM:603592
HP:0003581	Adult onset	5649	RELN	OMIM:600512
HP:0003581	Adult onset	64780	MICAL1	OMIM:600512
HP:0003581	Adult onset	9211	LGI1	OMIM:600512
HP:0003581	Adult onset	2273	FHL1	OMIM:300695
HP:0003581	Adult onset	64601	VPS16	OMIM:619291
HP:0003581	Adult onset	653509	SFTPA1	OMIM:619611
HP:0003581	Adult onset	57449	PLEKHG5	OMIM:615376
HP:0003581	Adult onset	50484	RRM2B	OMIM:613077
HP:0003581	Adult onset	79797	ZNF408	OMIM:616469
HP:0003581	Adult onset	79797	ZNF408	OMIM:616468
HP:0003581	Adult onset	4901	NRL	OMIM:613750
HP:0003581	Adult onset	2702	GJA5	OMIM:614049
HP:0003581	Adult onset	6324	SCN1B	OMIM:615377
HP:0003581	Adult onset	6327	SCN2B	OMIM:615378
HP:0003581	Adult onset	9149	DYRK1B	OMIM:615812
HP:0003581	Adult onset	8930	MBD4	OMIM:619975
HP:0003581	Adult onset	311	ANXA11	OMIM:619733
HP:0003581	Adult onset	311	ANXA11	OMIM:617839
HP:0003581	Adult onset	5350	PLN	OMIM:613874
HP:0003581	Adult onset	5173	PDYN	OMIM:610245
HP:0003581	Adult onset	80201	HKDC1	OMIM:619614
HP:0003581	Adult onset	7123	CLEC3B	OMIM:619977
HP:0003581	Adult onset	29967	LRP12	OMIM:164310
HP:0003581	Adult onset	9750	RIPOR2	OMIM:607017
HP:0003581	Adult onset	10060	ABCC9	OMIM:614050
HP:0003581	Adult onset	10060	ABCC9	OMIM:608569
HP:0003581	Adult onset	659	BMPR2	OMIM:178600
HP:0003581	Adult onset	5442	POLRMT	OMIM:619743
HP:0003581	Adult onset	65055	REEP1	OMIM:610250
HP:0003581	Adult onset	9517	SPTLC2	OMIM:613640
HP:0003581	Adult onset	9531	BAG3	OMIM:613881
HP:0003581	Adult onset	1600	DAB1	OMIM:615945
HP:0003581	Adult onset	6392	SDHD	OMIM:168000
HP:0003581	Adult onset	9096	TBX18	OMIM:143400
HP:0003581	Adult onset	9907	AP5Z1	OMIM:613647
HP:0003581	Adult onset	6908	TBP	OMIM:607136
HP:0003581	Adult onset	4854	NOTCH3	OMIM:125310
HP:0003581	Adult onset	9897	WASHC5	OMIM:603563
HP:0003581	Adult onset	2512	FTL	OMIM:606159
HP:0003581	Adult onset	5311	PKD2	OMIM:613095
HP:0003581	Adult onset	4117	MAK	OMIM:614181
HP:0003581	Adult onset	5314	PKHD1	OMIM:263200
HP:0003581	Adult onset	5255	PHKA1	OMIM:300559
HP:0003581	Adult onset	54902	TTC19	OMIM:615157
HP:0003581	Adult onset	51604	PIGT	OMIM:615399
HP:0003581	Adult onset	4878	NPPA	OMIM:612201
HP:0003581	Adult onset	57863	CADM3	OMIM:619519
HP:0003581	Adult onset	389692	MAFA	OMIM:147630
HP:0003581	Adult onset	7139	TNNT2	OMIM:115195
HP:0003581	Adult onset	7139	TNNT2	OMIM:601494
HP:0003581	Adult onset	60481	ELOVL5	OMIM:615957
HP:0003581	Adult onset	10059	DNM1L	OMIM:610708
HP:0003581	Adult onset	4763	NF1	OMIM:162210
HP:0003581	Adult onset	4669	NAGLU	OMIM:616491
HP:0003581	Adult onset	23095	KIF1B	OMIM:118210
HP:0003581	Adult onset	4437	MSH3	OMIM:617100
HP:0003581	Adult onset	3075	CFH	OMIM:126700
HP:0003581	Adult onset	2542	SLC37A4	OMIM:619525
HP:0003581	Adult onset	6117	RPA1	OMIM:619767
HP:0003581	Adult onset	11149	BVES	OMIM:616812
HP:0003581	Adult onset	29110	TBK1	OMIM:617900
HP:0003581	Adult onset	57462	MYORG	OMIM:618317
HP:0003581	Adult onset	4137	MAPT	OMIM:600274
HP:0003581	Adult onset	5663	PSEN1	OMIM:600274
HP:0003581	Adult onset	5663	PSEN1	OMIM:613694
HP:0003581	Adult onset	1436	CSF1R	OMIM:221820
HP:0003581	Adult onset	1282	COL4A1	OMIM:618564
HP:0003581	Adult onset	9992	KCNE2	OMIM:611493
HP:0003581	Adult onset	10133	OPTN	OMIM:613435
HP:0003581	Adult onset	3752	KCND3	OMIM:607346
HP:0003581	Adult onset	3752	KCND3	OMIM:616399
HP:0003581	Adult onset	203859	ANO5	OMIM:613319
HP:0003581	Adult onset	203859	ANO5	OMIM:611307
HP:0003581	Adult onset	7045	TGFBI	OMIM:121820
HP:0003581	Adult onset	351	APP	OMIM:605714
HP:0003581	Adult onset	5654	HTRA1	OMIM:600142
HP:0003581	Adult onset	5654	HTRA1	OMIM:616779
HP:0003581	Adult onset	23676	SMPX	OMIM:301075
HP:0003581	Adult onset	9217	VAPB	OMIM:182980
HP:0003581	Adult onset	9217	VAPB	OMIM:608627
HP:0003581	Adult onset	59345	GNB4	OMIM:615185
HP:0003581	Adult onset	50939	IMPG2	OMIM:616152
HP:0003581	Adult onset	23093	TTLL5	OMIM:615860
HP:0003581	Adult onset	3798	KIF5A	OMIM:617921
HP:0003581	Adult onset	51142	CHCHD2	OMIM:616710
HP:0003581	Adult onset	339453	TMEM240	OMIM:607454
HP:0003581	Adult onset	1674	DES	OMIM:181400
HP:0003581	Adult onset	1861	TOR1A	OMIM:128100
HP:0003581	Adult onset	8729	GBF1	OMIM:606483
HP:0003581	Adult onset	4141	MARS1	OMIM:616280
HP:0003581	Adult onset	92935	MARS2	OMIM:611390
HP:0003581	Adult onset	3741	KCNA5	OMIM:612240
HP:0003581	Adult onset	9698	PUM1	OMIM:617931
HP:0003581	Adult onset	4311	MME	OMIM:617018
HP:0003581	Adult onset	4311	MME	OMIM:617017
HP:0003581	Adult onset	5664	PSEN2	OMIM:613697
HP:0003581	Adult onset	5664	PSEN2	OMIM:606889
HP:0003581	Adult onset	2066	ERBB4	OMIM:615515
HP:0003581	Adult onset	5428	POLG	OMIM:258450
HP:0003581	Adult onset	5428	POLG	OMIM:157640
HP:0003581	Adult onset	3315	HSPB1	OMIM:606595
HP:0003581	Adult onset	10516	FBLN5	OMIM:608895
HP:0003581	Adult onset	2200	FBN1	OMIM:129600
HP:0003581	Adult onset	7555	CNBP	OMIM:602668
HP:0003581	Adult onset	256471	MFSD8	OMIM:616170
HP:0003581	Adult onset	7317	UBA1	OMIM:301054
HP:0003581	Adult onset	3748	KCNC3	OMIM:605259
HP:0003581	Adult onset	1822	ATN1	OMIM:125370
HP:0003581	Adult onset	440193	CCDC88C	OMIM:616053
HP:0003581	Adult onset	25814	ATXN10	OMIM:603516
HP:0003581	Adult onset	57798	GATAD1	OMIM:614672
HP:0003581	Adult onset	1829	DSG2	OMIM:610193
HP:0003581	Adult onset	440275	EIF2AK4	OMIM:234810
HP:0003581	Adult onset	57505	AARS2	OMIM:615889
HP:0003581	Adult onset	54822	TRPM7	OMIM:105500
HP:0003581	Adult onset	4010	LMX1B	OMIM:256020
HP:0003581	Adult onset	324	APC	OMIM:135290
HP:0003581	Adult onset	3784	KCNQ1	OMIM:607554
HP:0003581	Adult onset	343641	TGM6	OMIM:613908
HP:0003581	Adult onset	5071	PRKN	OMIM:600116
HP:0003581	Adult onset	727676	SNORD118	OMIM:614561
HP:0003581	Adult onset	1181	CLCN2	OMIM:615651
HP:0003581	Adult onset	29978	UBQLN2	OMIM:300857
HP:0003581	Adult onset	8622	PDE8B	OMIM:609161
HP:0003581	Adult onset	8314	BAP1	OMIM:614327
HP:0003581	Adult onset	1000	CDH2	OMIM:618920
HP:0003581	Adult onset	5837	PYGM	OMIM:232600
HP:0003581	Adult onset	100134444	KCNJ18	OMIM:613239
HP:0003581	Adult onset	825	CAPN3	OMIM:618129
HP:0003581	Adult onset	55975	KLHL7	OMIM:612943
HP:0003581	Adult onset	116442	RAB39B	OMIM:311510
HP:0003581	Adult onset	2218	FKTN	OMIM:611615
HP:0003581	Adult onset	3119	HLA-DQB1	OMIM:123400
HP:0003581	Adult onset	5621	PRNP	OMIM:123400
HP:0003581	Adult onset	5621	PRNP	OMIM:606688
HP:0003581	Adult onset	2632	GBE1	OMIM:263570
HP:0003581	Adult onset	9420	CYP7B1	OMIM:270800
HP:0003581	Adult onset	2318	FLNC	OMIM:617047
HP:0003581	Adult onset	9445	ITM2B	OMIM:616079
HP:0003581	Adult onset	4015	LOX	OMIM:617168
HP:0003581	Adult onset	10667	FARS2	OMIM:617046
HP:0003581	Adult onset	2992	GYG1	OMIM:616199
HP:0003581	Adult onset	55800	SCN3B	OMIM:613120
HP:0003581	Adult onset	4072	EPCAM	OMIM:613244
HP:0003581	Adult onset	3178	HNRNPA1	OMIM:615424
HP:0003581	Adult onset	7134	TNNC1	OMIM:613243
HP:0003581	Adult onset	7134	TNNC1	OMIM:611879
HP:0003581	Adult onset	91624	NEXN	OMIM:613122
HP:0003581	Adult onset	26060	APPL1	OMIM:616511
HP:0003581	Adult onset	10320	IKZF1	OMIM:616873
HP:0003581	Adult onset	2224	FDPS	OMIM:616631
HP:0003581	Adult onset	7273	TTN	OMIM:604145
HP:0003581	Adult onset	9563	H6PD	OMIM:604931
HP:0003581	Adult onset	57338	JPH3	OMIM:606438
HP:0003581	Adult onset	1816	DRD5	OMIM:606798
HP:0003581	Adult onset	55791	LRIF1	OMIM:619477
HP:0003581	Adult onset	100996717	NOTCH2NLC	OMIM:619473
HP:0003581	Adult onset	4624	MYH6	OMIM:613252
HP:0003581	Adult onset	7414	VCL	OMIM:613255
HP:0003581	Adult onset	7414	VCL	OMIM:611407
HP:0003581	Adult onset	84196	USP48	OMIM:620227
HP:0003581	Adult onset	84839	RAX2	OMIM:620102
HP:0003581	Adult onset	7168	TPM1	OMIM:611878
HP:0003581	Adult onset	672	BRCA1	OMIM:604370
HP:0003581	Adult onset	1495	CTNNA1	OMIM:608970
HP:0003581	Adult onset	84868	HAVCR2	OMIM:618398
HP:0003581	Adult onset	10483	SEC23B	OMIM:224100
HP:0003581	Adult onset	7084	TK2	OMIM:617069
HP:0003581	Adult onset	3827	KNG1	OMIM:619363
HP:0003581	Adult onset	491	ATP2B2	OMIM:619804
HP:0003581	Adult onset	219285	SAMD9L	OMIM:619806
HP:0003581	Adult onset	8911	CACNA1I	OMIM:620114
HP:0003581	Adult onset	1786	DNMT1	OMIM:604121
HP:0003581	Adult onset	3710	ITPR3	OMIM:620111
HP:0003581	Adult onset	10137	RBM12	OMIM:617629
HP:0003581	Adult onset	6785	ELOVL4	OMIM:133190
HP:0003581	Adult onset	9516	LITAF	OMIM:601098
HP:0003581	Adult onset	4131	MAP1B	OMIM:619808
HP:0003581	Adult onset	80208	SPG11	OMIM:604360
HP:0003581	Adult onset	5660	PSAP	OMIM:619491
HP:0003581	Adult onset	25978	CHMP2B	OMIM:600795
HP:0003581	Adult onset	1716	DGUOK	OMIM:617070
HP:0003581	Adult onset	6389	SDHA	OMIM:619259
HP:0003581	Adult onset	1540	CYLD	OMIM:619132
HP:0003581	Adult onset	7072	TIA1	OMIM:619133
HP:0003581	Adult onset	8651	SOCS1	OMIM:619375
HP:0003581	Adult onset	138050	HGSNAT	OMIM:616544
HP:0003581	Adult onset	7716	VEZF1	OMIM:620247
HP:0003581	Adult onset	654	BMP6	OMIM:620121
HP:0003581	Adult onset	6609	SMPD1	OMIM:607616
HP:0003581	Adult onset	348	APOE	OMIM:606889
HP:0003581	Adult onset	4359	MPZ	OMIM:607736
HP:0003581	Adult onset	899	CCNF	OMIM:619141
HP:0003581	Adult onset	23193	GANAB	OMIM:600666
HP:0003581	Adult onset	6103	RPGR	OMIM:300029
HP:0003581	Adult onset	857	CAV1	OMIM:615343
HP:0003581	Adult onset	4747	NEFL	OMIM:617882
HP:0003581	Adult onset	1981	EIF4G1	OMIM:614251
HP:0003581	Adult onset	7137	TNNI3	OMIM:613286
HP:0003581	Adult onset	4000	LMNA	OMIM:115200
HP:0003581	Adult onset	79875	THSD4	OMIM:619825
HP:0003581	Adult onset	16	AARS1	OMIM:613287
HP:0003581	Adult onset	3777	KCNK3	OMIM:615344
HP:0003581	Adult onset	2196	FAT2	OMIM:617769
HP:0003581	Adult onset	55901	THSD1	OMIM:618734
HP:0003581	Adult onset	8996	NOL3	OMIM:614937
HP:0003581	Adult onset	10299	MARCHF6	OMIM:613608
HP:0003581	Adult onset	55129	ANO10	OMIM:613728
HP:0003581	Adult onset	80036	TRPM3	OMIM:620253
HP:0003581	Adult onset	282996	RBM20	OMIM:613172
HP:0003581	Adult onset	125150	ZSWIM7	OMIM:619831
HP:0003581	Adult onset	151648	SGO1	OMIM:616201
HP:0003581	Adult onset	114548	NLRP3	OMIM:617772
HP:0003581	Adult onset	114548	NLRP3	OMIM:148200
HP:0003581	Adult onset	253017	TECRL	OMIM:614021
HP:0003581	Adult onset	22880	MORC2	OMIM:616688
HP:0003581	Adult onset	144132	DNHD1	OMIM:619712
HP:0003581	Adult onset	148738	HJV	OMIM:602390
HP:0003581	Adult onset	9742	IFT140	OMIM:617781
HP:0003581	Adult onset	4867	NPHP1	OMIM:266900
HP:0003581	Adult onset	4210	MEFV	OMIM:249100
HP:0003581	Adult onset	308	ANXA5	OMIM:614391
HP:0003581	Adult onset	56616	DIABLO	OMIM:614152
HP:0003581	Adult onset	8722	CTSF	OMIM:615362
HP:0003581	Adult onset	55689	YEATS2	OMIM:615127
HP:0003581	Adult onset	57545	CC2D2A	OMIM:619845
HP:0003581	Adult onset	83959	SLC4A11	OMIM:217400
HP:0003581	Adult onset	10388	SYCP2	OMIM:258150
HP:0003581	Adult onset	535	ATP6V0A1	OMIM:619971
HP:0003581	Adult onset	8632	DNAH17	OMIM:618643
HP:0003581	Adult onset	23370	ARHGEF18	OMIM:617433
HP:0003581	Adult onset	63976	PRDM16	OMIM:615373
HP:0003581	Adult onset	30813	VSX1	OMIM:148300
HP:0003581	Adult onset	5832	ALDH18A1	OMIM:601162
HP:0003581	Adult onset	6926	TBX3	OMIM:181450
HP:0003581	Adult onset	10935	PRDX3	OMIM:619862
HP:0003581	Adult onset	84173	ELMOD3	OMIM:619500
HP:0003581	Adult onset	83636	C19orf12	OMIM:614298
HP:0003581	Adult onset	55526	DHTKD1	OMIM:615025
HP:0003581	Adult onset	7428	VHL	OMIM:193300
HP:0003581	Adult onset	57728	WDR19	OMIM:619867
HP:0003581	Adult onset	9529	BAG5	OMIM:619747
HP:0003581	Adult onset	477	ATP1A2	OMIM:602481
HP:0003581	Adult onset	10594	PRPF8	OMIM:600059
HP:0003581	Adult onset	55012	PPP2R3C	OMIM:618420
HP:0003581	Adult onset	63982	ANO3	OMIM:615034
HP:0003581	Adult onset	25981	DNAH1	OMIM:617576
HP:0003581	Adult onset	199223	TTC21A	OMIM:618429
HP:0003581	Adult onset	89869	PLCZ1	OMIM:617214
HP:0003581	Adult onset	54456	MOV10L1	OMIM:619878
HP:0003581	Adult onset	55823	VPS11	OMIM:619637
HP:0003581	Adult onset	6262	RYR2	OMIM:604772
HP:0003581	Adult onset	845	CASQ2	OMIM:604772
HP:0003581	Adult onset	10345	TRDN	OMIM:604772
HP:0003581	Adult onset	9049	AIP	OMIM:102200
HP:0003581	Adult onset	6101	RP1	OMIM:180100
HP:0003581	Adult onset	150365	MEI1	OMIM:618431
HP:0003581	Adult onset	431705	ASTL	OMIM:619643
HP:0003581	Adult onset	7075	TIE1	OMIM:619401
HP:0003581	Adult onset	3098	HK1	OMIM:617460
HP:0003581	Adult onset	154197	PNLDC1	OMIM:619528
HP:0003581	Adult onset	145645	TERB2	OMIM:619645
HP:0003581	Adult onset	283847	TERB1	OMIM:619646
HP:0003581	Adult onset	2556	GABRA3	OMIM:301091
HP:0003581	Adult onset	1690	COCH	OMIM:601369
HP:0003581	Adult onset	83723	TLCD3B	OMIM:619531
HP:0003581	Adult onset	55779	CFAP44	OMIM:617593
HP:0003581	Adult onset	80217	CFAP43	OMIM:617592
HP:0003581	Adult onset	3423	IDS	OMIM:309900
HP:0003581	Adult onset	7867	MAPKAPK3	OMIM:617111
HP:0003581	Adult onset	84131	CEP78	OMIM:617236
HP:0003581	Adult onset	6578	SLCO2A1	OMIM:167100
HP:0003581	Adult onset	6578	SLCO2A1	OMIM:614441
HP:0003581	Adult onset	2677	GGCX	OMIM:610842
HP:0003581	Adult onset	93953	GCNA	OMIM:301077
HP:0003581	Adult onset	2617	GARS1	OMIM:601472
HP:0003581	Adult onset	2617	GARS1	OMIM:600794
HP:0003581	Adult onset	23064	SETX	OMIM:602433
HP:0003581	Adult onset	353116	RILPL1	OMIM:619790
HP:0003581	Adult onset	199713	NLRP7	OMIM:231090
HP:0003581	Adult onset	4175	MCM6	OMIM:223100
HP:0003581	Adult onset	1730	DIAPH2	OMIM:300511
HP:0003581	Adult onset	84074	QRICH2	OMIM:618341
HP:0003581	Adult onset	57465	TBC1D24	OMIM:616044
HP:0003581	Adult onset	335	APOA1	OMIM:618463
HP:0003581	Adult onset	11055	ZPBP	OMIM:619799
HP:0003581	Adult onset	3426	CFI	OMIM:612923
HP:0003581	Adult onset	871	SERPINH1	OMIM:610504
HP:0003581	Adult onset	10049	DNAJB6	OMIM:603511
HP:0003581	Adult onset	84909	AOPEP	OMIM:619565
HP:0003581	Adult onset	3714	JAG2	OMIM:619566
HP:0003581	Adult onset	6340	SCNN1G	OMIM:618114
HP:0003581	Adult onset	92667	MGME1	OMIM:615084
HP:0003581	Adult onset	23586	RIGI	OMIM:616298
HP:0003581	Adult onset	122402	TDRD9	OMIM:618110
HP:0003581	Adult onset	140801	RPL10L	OMIM:619689
HP:0003581	Adult onset	1130	LYST	OMIM:214500
HP:0003581	Adult onset	23005	MAPKBP1	OMIM:617271
HP:0003581	Adult onset	286151	FBXO43	OMIM:619696
HP:0003581	Adult onset	84061	MAGT1	OMIM:300853
HP:0003581	Adult onset	63910	SLC17A9	OMIM:616063
HP:0003581	Adult onset	71	ACTG1	OMIM:604717
HP:0003581	Adult onset	5318	PKP2	OMIM:609040
HP:0003581	Adult onset	6102	RP2	OMIM:312600
HP:0003581	Adult onset	4864	NPC1	OMIM:257220
HP:0003581	Adult onset	4635	MYL4	OMIM:617280
HP:0003581	Adult onset	6795	AURKC	OMIM:243060
HP:0003581	Adult onset	2661	GDF9	OMIM:618014
HP:0003581	Adult onset	10149	ADGRG2	OMIM:300985
HP:0003581	Adult onset	80173	IFT74	OMIM:619585
HP:0003581	Adult onset	8398	PLA2G6	OMIM:612953
HP:0003581	Adult onset	339829	CCDC39	OMIM:613807
HP:0003581	Adult onset	7225	TRPC6	OMIM:603965
HP:0003581	Adult onset	10519	CIB1	OMIM:618267
HP:0003581	Adult onset	29927	SEC61A1	OMIM:617056
HP:0003581	Adult onset	8468	FKBP6	OMIM:620103
HP:0003581	Adult onset	92749	DRC1	OMIM:620222
HP:0003581	Adult onset	2335	FN1	OMIM:601894
HP:0003581	Adult onset	1412	CRYBA2	OMIM:115900
HP:0003581	Adult onset	5340	PLG	OMIM:619360
HP:0003581	Adult onset	140732	SUN5	OMIM:617187
HP:0003581	Adult onset	7078	TIMP3	OMIM:136900
HP:0003581	Adult onset	144406	CFAP251	OMIM:618152
HP:0003581	Adult onset	79983	POF1B	OMIM:300604
HP:0003581	Adult onset	401024	FSIP2	OMIM:618153
HP:0003581	Adult onset	55145	THAP1	OMIM:602629
HP:0003581	Adult onset	54800	KLHL24	OMIM:620236
HP:0003581	Adult onset	23516	SLC39A14	OMIM:144755
HP:0003581	Adult onset	6508	SLC4A3	OMIM:620231
HP:0003581	Adult onset	51062	ATL1	OMIM:613708
HP:0003581	Adult onset	81624	DIAPH3	OMIM:609129
HP:0003581	Adult onset	375307	CATIP	OMIM:619379
HP:0003581	Adult onset	85358	SHANK3	OMIM:613950
HP:0003581	Adult onset	6329	SCN4A	OMIM:608390
HP:0003581	Adult onset	283417	DPY19L2	OMIM:613958
HP:0003581	Adult onset	1371	CPOX	OMIM:121300
HP:0003581	Adult onset	200162	SPAG17	OMIM:619380
HP:0003581	Adult onset	84277	DNAJC30	OMIM:619382
HP:0003581	Adult onset	2296	FOXC1	OMIM:601631
HP:0003581	Adult onset	7516	XRCC2	OMIM:619146
HP:0003581	Adult onset	2034	EPAS1	OMIM:611783
HP:0003581	Adult onset	117155	CATSPER2	OMIM:612997
HP:0003581	Adult onset	161497	STRC	OMIM:612997
HP:0003581	Adult onset	117144	CATSPER1	OMIM:612997
HP:0003581	Adult onset	9935	MAFB	OMIM:166300
HP:0003581	Adult onset	10861	SLC26A1	OMIM:620372
HP:0003581	Adult onset	773	CACNA1A	OMIM:183086
HP:0003581	Adult onset	773	CACNA1A	OMIM:141500
HP:0003581	Adult onset	59341	TRPV4	OMIM:606071
HP:0003581	Adult onset	124404	SEPTIN12	OMIM:614822
HP:0003581	Adult onset	478	ATP1A3	OMIM:128235
HP:0003581	Adult onset	24148	PRPF6	OMIM:613983
HP:0003581	Adult onset	9128	PRPF4	OMIM:615922
HP:0003581	Adult onset	50940	PDE11A	OMIM:610475
HP:0003581	Adult onset	6521	SLC4A1	OMIM:612653
HP:0003581	Adult onset	5498	PPOX	OMIM:176200
HP:0003581	Adult onset	678	ZFP36L2	OMIM:620154
HP:0003581	Adult onset	6452	SH3BP2	OMIM:118400
HP:0003581	Adult onset	57697	FANCM	OMIM:618086
HP:0003581	Adult onset	26277	TINF2	OMIM:613990
HP:0003581	Adult onset	22954	TRIM32	OMIM:254110
HP:0003581	Adult onset	57158	JPH2	OMIM:613873
HP:0003581	Adult onset	5346	PLIN1	OMIM:613877
HP:0003581	Adult onset	10939	AFG3L2	OMIM:610246
HP:0003581	Adult onset	5573	PRKAR1A	OMIM:610489
HP:0003581	Adult onset	6843	VAMP1	OMIM:108600
HP:0003581	Adult onset	256297	PTF1A	OMIM:615935
HP:0003581	Adult onset	80726	IQCN	OMIM:620170
HP:0003581	Adult onset	6691	SPINK2	OMIM:618091
HP:0003581	Adult onset	26090	ABHD12	OMIM:612674
HP:0003581	Adult onset	675	BRCA2	OMIM:612555
HP:0003581	Adult onset	57055	DAZ2	OMIM:415000
HP:0003581	Adult onset	5940	RBMY1A1	OMIM:415000
HP:0003581	Adult onset	9082	XKRY	OMIM:415000
HP:0003581	Adult onset	57054	DAZ3	OMIM:415000
HP:0003581	Adult onset	1617	DAZ1	OMIM:415000
HP:0003581	Adult onset	8284	KDM5D	OMIM:415000
HP:0003581	Adult onset	442862	PRY2	OMIM:415000
HP:0003581	Adult onset	9081	PRY	OMIM:415000
HP:0003581	Adult onset	140032	RPS4Y2	OMIM:415000
HP:0003581	Adult onset	9426	CDY2A	OMIM:415000
HP:0003581	Adult onset	9083	BPY2	OMIM:415000
HP:0003581	Adult onset	86614	HSFY1	OMIM:415000
HP:0003581	Adult onset	9084	VCY	OMIM:415000
HP:0003581	Adult onset	8287	USP9Y	OMIM:415000
HP:0003581	Adult onset	9085	CDY1	OMIM:415000
HP:0003581	Adult onset	8653	DDX3Y	OMIM:415000
HP:0003581	Adult onset	7915	ALDH5A1	OMIM:271980
HP:0003581	Adult onset	84138	SLC7A6OS	OMIM:619191
HP:0003581	Adult onset	80704	SLC19A3	OMIM:607483
HP:0003581	Adult onset	4438	MSH4	OMIM:108420
HP:0003581	Adult onset	4438	MSH4	OMIM:619938
HP:0003581	Adult onset	56159	TEX11	OMIM:309120
HP:0003581	Adult onset	3251	HPRT1	OMIM:300322
HP:0003581	Adult onset	190	NR0B1	OMIM:300200
HP:0003581	Adult onset	2908	NR3C1	OMIM:615962
HP:0003581	Adult onset	6875	TAF4B	OMIM:615841
HP:0003581	Adult onset	84225	ZMYND15	OMIM:615842
HP:0003581	Adult onset	164045	HFM1	OMIM:615724
HP:0003581	Adult onset	10734	STAG3	OMIM:615723
HP:0003581	Adult onset	2488	FSHB	OMIM:229070
HP:0003581	Adult onset	10253	SPRY2	OMIM:616818
HP:0003581	Adult onset	6742	SSBP1	OMIM:165510
HP:0003581	Adult onset	157855	KCNU1	OMIM:620196
HP:0003581	Adult onset	29851	ICOS	OMIM:607594
HP:0003581	Adult onset	91057	CCDC34	OMIM:620084
HP:0003581	Adult onset	219736	STOX1	OMIM:609404
HP:0003581	Adult onset	81031	SLC2A10	OMIM:208050
HP:0003581	Adult onset	3300	DNAJB2	OMIM:614881
HP:0003581	Adult onset	10002	NR2E3	OMIM:611131
HP:0003581	Adult onset	2074	ERCC6	OMIM:616946
HP:0003581	Adult onset	57817	HAMP	OMIM:613313
HP:0003581	Adult onset	710	SERPING1	OMIM:106100
HP:0003581	Adult onset	26353	HSPB8	OMIM:608673
HP:0003581	Adult onset	50511	SYCP3	OMIM:270960
HP:0003581	Adult onset	80331	DNAJC5	OMIM:162350
HP:0003581	Adult onset	3991	LIPE	OMIM:615980
HP:0003581	Adult onset	64788	LMF1	OMIM:246650
HP:0003581	Adult onset	2581	GALC	OMIM:245200
HP:0003581	Adult onset	1376	CPT2	OMIM:255110
HP:0003581	Adult onset	93426	SYCE1	OMIM:616950
HP:0003581	Adult onset	3371	TNC	OMIM:615629
HP:0003581	Adult onset	10382	TUBB4A	OMIM:128101
HP:0003581	Adult onset	6323	SCN1A	OMIM:609634
HP:0003581	Adult onset	865	CBFB	OMIM:620099
HP:0003581	Adult onset	25923	ATL3	OMIM:615632
HP:0003581	Adult onset	23600	AMACR	OMIM:614307
HP:0003581	Adult onset	8763	CD164	OMIM:616969
HP:0003581	Adult onset	55187	VPS13D	OMIM:607317
HP:0003581	Adult onset	83552	MFRP	OMIM:611040
HP:0003581	Adult onset	58	ACTA1	OMIM:616852
HP:0003581	Adult onset	56155	TEX14	OMIM:617707
HP:0003581	Adult onset	254528	MEIOB	OMIM:617706
HP:0003581	Adult onset	1497	CTNS	OMIM:219750
HP:0003581	Adult onset	64135	IFIH1	OMIM:182250
HP:0003581	Adult onset	3643	INSR	OMIM:609968
HP:0003581	Adult onset	128338	DRAM2	OMIM:616502
HP:0003581	Adult onset	7784	ZP3	OMIM:617712
HP:0003581	Adult onset	7128	TNFAIP3	OMIM:616744
HP:0003581	Adult onset	10560	SLC19A2	OMIM:249270
HP:0003581	Adult onset	22917	ZP1	OMIM:615774
HP:0003581	Adult onset	26525	IL36RN	OMIM:614204
HP:0003581	Adult onset	57165	GJC2	OMIM:613480
HP:0003581	Adult onset	80705	TSGA10	OMIM:617961
HP:0003581	Adult onset	56154	TEX15	OMIM:617960
HP:0003581	Adult onset	122481	AK7	OMIM:617965
HP:0003581	Adult onset	7289	TULP3	OMIM:619902
HP:0003581	Adult onset	80736	SLC44A4	OMIM:617606
HP:0003581	Adult onset	88	ACTN2	OMIM:612158
HP:0003581	Adult onset	6444	SGCD	OMIM:606685
HP:0003581	Adult onset	5376	PMP22	OMIM:162500
HP:0003581	Adult onset	10568	SLC34A2	OMIM:265100
HP:0003581	Adult onset	10755	GIPC1	OMIM:618940
HP:0003581	Adult onset	5618	PRLR	OMIM:615555
HP:0003581	Adult onset	23568	ARL2BP	OMIM:615434
HP:0003581	Adult onset	8988	HSPB3	OMIM:613376
HP:0003581	Adult onset	640	BLK	OMIM:613375
HP:0003581	Adult onset	2548	GAA	OMIM:232300
HP:0003581	Adult onset	1056	CEL	OMIM:609812
HP:0003581	Adult onset	84660	CCDC62	OMIM:619803
HP:0003581	Adult onset	197135	PATL2	OMIM:617743
HP:0003581	Adult onset	151254	C2CD6	OMIM:619805
HP:0003581	Adult onset	1293	COL6A3	OMIM:616411
HP:0003581	Adult onset	57570	TRMT5	OMIM:616539
HP:0003581	Adult onset	3094	HINT1	OMIM:137200
HP:0003581	Adult onset	24	ABCA4	OMIM:604116
HP:0003581	Adult onset	79934	COQ8B	OMIM:615573
HP:0003581	Adult onset	494551	WEE2	OMIM:617996
HP:0003581	Adult onset	4439	MSH5	OMIM:619937
HP:0003581	Adult onset	23250	ATP11A	OMIM:619810
HP:0003581	Adult onset	51422	PRKAG2	OMIM:194200
HP:0003581	Adult onset	8086	AAAS	OMIM:231550
HP:0003581	Adult onset	6223	RPS19	OMIM:105650
HP:0003581	Adult onset	846	CASR	OMIM:601198
HP:0003581	Adult onset	116369	SLC26A8	OMIM:606766
HP:0003581	Adult onset	4340	MOG	OMIM:614250
HP:0003581	Adult onset	26249	KLHL3	OMIM:614495
HP:0003581	Adult onset	7305	TYROBP	OMIM:221770
HP:0003581	Adult onset	22978	NT5C2	OMIM:613162
HP:0003581	Adult onset	10654	PMVK	OMIM:175800
HP:0003581	Adult onset	199720	GGN	OMIM:619826
HP:0003581	Adult onset	676	BRDT	OMIM:617644
HP:0003581	Adult onset	158401	SHOC1	OMIM:619949
HP:0003581	Adult onset	5161	PDHA2	OMIM:619828
HP:0003581	Adult onset	64170	CARD9	OMIM:212050
HP:0003581	Adult onset	201294	UNC13D	OMIM:608898
HP:0003581	Adult onset	1053	CEBPE	OMIM:260570
HP:0003581	Adult onset	402381	SOHLH1	OMIM:617690
HP:0003581	Adult onset	5265	SERPINA1	OMIM:613490
HP:0003581	Adult onset	8991	SELENBP1	OMIM:618148
HP:0003581	Adult onset	2100	ESR2	OMIM:618187
HP:0003581	Adult onset	3753	KCNE1	OMIM:613695
HP:0003581	Adult onset	4897	NRCAM	OMIM:619833
HP:0003581	Adult onset	375748	ERCC6L2	OMIM:615715
HP:0003581	Adult onset	6606	SMN1	OMIM:253400
HP:0003581	Adult onset	6607	SMN2	OMIM:253400
HP:0003581	Adult onset	51284	TLR7	OMIM:301080
HP:0003581	Adult onset	1280	COL2A1	OMIM:608805
HP:0003581	Adult onset	10021	HCN4	OMIM:163800
HP:0003581	Adult onset	5610	EIF2AK2	OMIM:619687
HP:0003581	Adult onset	5375	PMP2	OMIM:618279
HP:0003581	Adult onset	3972	LHB	OMIM:228300
HP:0003581	Adult onset	3630	INS	OMIM:125852
HP:0003581	Adult onset	92840	REEP6	OMIM:617304
HP:0003581	Adult onset	54805	CNNM2	OMIM:616418
HP:0003581	Adult onset	54476	RNF216	OMIM:212840
HP:0003581	Adult onset	8526	DGKE	OMIM:615008
HP:0003581	Adult onset	112476	PRRT2	OMIM:602066
HP:0003581	Adult onset	58528	RRAGD	OMIM:620152
HP:0003581	Adult onset	8671	SLC4A4	OMIM:604278
HP:0003581	Adult onset	26092	TOR1AIP1	OMIM:617072
HP:0003581	Adult onset	6772	STAT1	OMIM:614162
HP:0003581	Adult onset	8575	PRKRA	OMIM:612067
HP:0003581	Adult onset	23533	PIK3R5	OMIM:615217
HP:0003581	Adult onset	51311	TLR8	OMIM:301078
HP:0003581	Adult onset	5611	DNAJC3	OMIM:616192
HP:0003581	Adult onset	54361	WNT4	OMIM:158330
HP:0003581	Adult onset	56652	TWNK	OMIM:607459
HP:0003581	Adult onset	567	B2M	OMIM:241600
HP:0003581	Adult onset	3980	LIG3	OMIM:619780
HP:0003581	Adult onset	79734	KCTD17	OMIM:616398
HP:0003581	Adult onset	3762	KCNJ5	OMIM:613485
HP:0003581	Adult onset	2583	B4GALNT1	OMIM:609195
HP:0003581	Adult onset	144245	ALG10B	OMIM:613688
HP:0003581	Adult onset	3757	KCNH2	OMIM:613688
HP:0003581	Adult onset	1200	TPP1	OMIM:609270
HP:0003581	Adult onset	10371	SEMA3A	OMIM:614897
HP:0003581	Adult onset	950	SCARB2	OMIM:254900
HP:0003581	Adult onset	6640	SNTA1	OMIM:612955
HP:0003581	Adult onset	1180	CLCN1	OMIM:160800
HP:0003581	Adult onset	338328	GPIHBP1	OMIM:615947
HP:0003581	Adult onset	22953	P2RX2	OMIM:608224
HP:0003581	Adult onset	1832	DSP	OMIM:607450
HP:0003581	Adult onset	50964	SOST	OMIM:269500
HP:0003581	Adult onset	1134	CHRNA1	OMIM:601462
HP:0003581	Adult onset	2022	ENG	OMIM:187300
HP:0003581	Adult onset	2624	GATA2	OMIM:614172
HP:0003581	Adult onset	116085	SLC22A12	OMIM:220150
HP:0003581	Adult onset	10159	ATP6AP2	OMIM:300911
HP:0003581	Adult onset	317761	C14orf39	OMIM:619203
HP:0003581	Adult onset	57468	SLC12A5	OMIM:616685
HP:0003581	Adult onset	8867	SYNJ1	OMIM:615530
HP:0003581	Adult onset	3717	JAK2	OMIM:263300
HP:0003581	Adult onset	9896	FIG4	OMIM:612691
HP:0003581	Adult onset	246243	RNASEH1	OMIM:616479
HP:0003581	Adult onset	3767	KCNJ11	OMIM:610582
HP:0003581	Adult onset	3767	KCNJ11	OMIM:616329
HP:0003581	Adult onset	7157	TP53	OMIM:260500
HP:0003581	Adult onset	2896	GRN	OMIM:614706
HP:0003581	Adult onset	540	ATP7B	OMIM:277900
HP:0003581	Adult onset	8565	YARS1	OMIM:608323
HP:0003581	Adult onset	785	CACNB4	OMIM:607682
HP:0003581	Adult onset	4287	ATXN3	OMIM:109150
HP:0003581	Adult onset	3930	LBR	OMIM:613471
HP:0003581	Adult onset	7515	XRCC1	OMIM:617633
HP:0003581	Adult onset	1593	CYP27A1	OMIM:213700
HP:0003581	Adult onset	54834	GDAP2	OMIM:618369
HP:0003581	Adult onset	859	CAV3	OMIM:611818
HP:0003581	Adult onset	55863	TMEM126B	OMIM:618250
HP:0003581	Adult onset	2670	GFAP	OMIM:203450
HP:0003581	Adult onset	1135	CHRNA2	OMIM:610353
HP:0003581	Adult onset	5961	PRPH2	OMIM:608161
HP:0003584	Late onset	4141	MARS1	OMIM:616280
HP:0003584	Late onset	4137	MAPT	OMIM:601104
HP:0003584	Late onset	4137	MAPT	OMIM:168600
HP:0003584	Late onset	7384	UQCRC1	OMIM:619279
HP:0003584	Late onset	146227	BEAN1	OMIM:117210
HP:0003584	Late onset	6208	RPS14	OMIM:153550
HP:0003584	Late onset	583	BBS2	OMIM:616562
HP:0003584	Late onset	4750	NEK1	OMIM:617892
HP:0003584	Late onset	4311	MME	OMIM:617018
HP:0003584	Late onset	5664	PSEN2	OMIM:613697
HP:0003584	Late onset	3910	LAMA4	OMIM:615235
HP:0003584	Late onset	2066	ERBB4	OMIM:615515
HP:0003584	Late onset	400916	CHCHD10	OMIM:615911
HP:0003584	Late onset	79188	TMEM43	OMIM:619832
HP:0003584	Late onset	7277	TUBA4A	OMIM:616208
HP:0003584	Late onset	3875	KRT18	OMIM:215600
HP:0003584	Late onset	3315	HSPB1	OMIM:606595
HP:0003584	Late onset	10516	FBLN5	OMIM:608895
HP:0003584	Late onset	1822	ATN1	OMIM:125370
HP:0003584	Late onset	1829	DSG2	OMIM:610193
HP:0003584	Late onset	6311	ATXN2	OMIM:183090
HP:0003584	Late onset	6311	ATXN2	OMIM:168600
HP:0003584	Late onset	70	ACTC1	OMIM:612098
HP:0003584	Late onset	84665	MYPN	OMIM:615248
HP:0003584	Late onset	644	BLVRA	OMIM:614156
HP:0003584	Late onset	54982	CLN6	OMIM:204300
HP:0003584	Late onset	1824	DSC2	OMIM:610476
HP:0003584	Late onset	5159	PDGFRB	OMIM:615007
HP:0003584	Late onset	4884	NPTX1	OMIM:620158
HP:0003584	Late onset	54822	TRPM7	OMIM:105500
HP:0003584	Late onset	4010	LMX1B	OMIM:256020
HP:0003584	Late onset	348	APOE	OMIM:603075
HP:0003584	Late onset	348	APOE	OMIM:104310
HP:0003584	Late onset	83872	HMCN1	OMIM:603075
HP:0003584	Late onset	3078	CFHR1	OMIM:603075
HP:0003584	Late onset	10878	CFHR3	OMIM:603075
HP:0003584	Late onset	11155	LDB3	OMIM:609452
HP:0003584	Late onset	146057	TTBK2	OMIM:604432
HP:0003584	Late onset	653509	SFTPA1	OMIM:619611
HP:0003584	Late onset	29978	UBQLN2	OMIM:300857
HP:0003584	Late onset	7045	TGFBI	OMIM:608471
HP:0003584	Late onset	8314	BAP1	OMIM:614327
HP:0003584	Late onset	3818	KLKB1	OMIM:612423
HP:0003584	Late onset	5173	PDYN	OMIM:610245
HP:0003584	Late onset	825	CAPN3	OMIM:618129
HP:0003584	Late onset	7123	CLEC3B	OMIM:619977
HP:0003584	Late onset	708	C1QBP	OMIM:617713
HP:0003584	Late onset	311	ANXA11	OMIM:617839
HP:0003584	Late onset	2332	FMR1	OMIM:300623
HP:0003584	Late onset	2318	FLNC	OMIM:617047
HP:0003584	Late onset	7156	TOP3A	OMIM:618098
HP:0003584	Late onset	4015	LOX	OMIM:617168
HP:0003584	Late onset	2992	GYG1	OMIM:616199
HP:0003584	Late onset	10347	ABCA7	OMIM:608907
HP:0003584	Late onset	4072	EPCAM	OMIM:613244
HP:0003584	Late onset	91624	NEXN	OMIM:613122
HP:0003584	Late onset	9531	BAG3	OMIM:613881
HP:0003584	Late onset	6392	SDHD	OMIM:168000
HP:0003584	Late onset	6908	TBP	OMIM:607136
HP:0003584	Late onset	6908	TBP	OMIM:168600
HP:0003584	Late onset	4624	MYH6	OMIM:613251
HP:0003584	Late onset	4607	MYBPC3	OMIM:615396
HP:0003584	Late onset	7414	VCL	OMIM:613255
HP:0003584	Late onset	389692	MAFA	OMIM:147630
HP:0003584	Late onset	7134	TNNC1	OMIM:611879
HP:0003584	Late onset	7168	TPM1	OMIM:611878
HP:0003584	Late onset	79719	AAGAB	OMIM:148600
HP:0003584	Late onset	8204	NRIP1	OMIM:618270
HP:0003584	Late onset	84868	HAVCR2	OMIM:618398
HP:0003584	Late onset	10483	SEC23B	OMIM:224100
HP:0003584	Late onset	4669	NAGLU	OMIM:616491
HP:0003584	Late onset	3075	CFH	OMIM:126700
HP:0003584	Late onset	6934	TCF7L2	OMIM:125853
HP:0003584	Late onset	2645	GCK	OMIM:125853
HP:0003584	Late onset	3172	HNF4A	OMIM:125853
HP:0003584	Late onset	3569	IL6	OMIM:125853
HP:0003584	Late onset	3990	LIPC	OMIM:125853
HP:0003584	Late onset	6927	HNF1A	OMIM:125853
HP:0003584	Late onset	9479	MAPK8IP1	OMIM:125853
HP:0003584	Late onset	56729	RETN	OMIM:125853
HP:0003584	Late onset	4544	MTNR1B	OMIM:125853
HP:0003584	Late onset	5506	PPP1R3A	OMIM:125853
HP:0003584	Late onset	7466	WFS1	OMIM:125853
HP:0003584	Late onset	208	AKT2	OMIM:125853
HP:0003584	Late onset	3651	PDX1	OMIM:125853
HP:0003584	Late onset	6833	ABCC8	OMIM:125853
HP:0003584	Late onset	10644	IGF2BP2	OMIM:125853
HP:0003584	Late onset	5167	ENPP1	OMIM:125853
HP:0003584	Late onset	5770	PTPN1	OMIM:125853
HP:0003584	Late onset	8660	IRS2	OMIM:125853
HP:0003584	Late onset	3159	HMGA1	OMIM:125853
HP:0003584	Late onset	5078	PAX4	OMIM:125853
HP:0003584	Late onset	6928	HNF1B	OMIM:125853
HP:0003584	Late onset	3667	IRS1	OMIM:125853
HP:0003584	Late onset	5468	PPARG	OMIM:125853
HP:0003584	Late onset	4760	NEUROD1	OMIM:125853
HP:0003584	Late onset	169026	SLC30A8	OMIM:125853
HP:0003584	Late onset	2820	GPD2	OMIM:125853
HP:0003584	Late onset	3767	KCNJ11	OMIM:125853
HP:0003584	Late onset	6514	SLC2A2	OMIM:125853
HP:0003584	Late onset	5654	HTRA1	OMIM:616779
HP:0003584	Late onset	6785	ELOVL4	OMIM:133190
HP:0003584	Late onset	8106	PABPN1	OMIM:164300
HP:0003584	Late onset	1716	DGUOK	OMIM:617070
HP:0003584	Late onset	1540	CYLD	OMIM:619132
HP:0003584	Late onset	9992	KCNE2	OMIM:611493
HP:0003584	Late onset	7072	TIA1	OMIM:619133
HP:0003584	Late onset	3717	JAK2	OMIM:263300
HP:0003584	Late onset	120892	LRRK2	OMIM:607060
HP:0003584	Late onset	23435	TARDBP	OMIM:612069
HP:0003584	Late onset	10133	OPTN	OMIM:613435
HP:0003584	Late onset	3752	KCND3	OMIM:607346
HP:0003584	Late onset	654	BMP6	OMIM:620121
HP:0003584	Late onset	351	APP	OMIM:605714
HP:0003584	Late onset	899	CCNF	OMIM:619141
HP:0003584	Late onset	23193	GANAB	OMIM:600666
HP:0003584	Late onset	54443	ANLN	OMIM:616032
HP:0003584	Late onset	50939	IMPG2	OMIM:616152
HP:0003584	Late onset	857	CAV1	OMIM:615343
HP:0003584	Late onset	1981	EIF4G1	OMIM:614251
HP:0003584	Late onset	79875	THSD4	OMIM:619825
HP:0003584	Late onset	51142	CHCHD2	OMIM:616710
HP:0003584	Late onset	55901	THSD1	OMIM:618734
HP:0003584	Late onset	2747	GLUD2	OMIM:168600
HP:0003584	Late onset	126	ADH1C	OMIM:168600
HP:0003584	Late onset	2629	GBA1	OMIM:168600
HP:0003584	Late onset	4929	NR4A2	OMIM:168600
HP:0003584	Late onset	4576	MT-TT	OMIM:168600
HP:0003584	Late onset	9627	SNCAIP	OMIM:168600
HP:0003584	Late onset	6315	ATXN8OS	OMIM:168600
HP:0003584	Late onset	6622	SNCA	OMIM:168601
HP:0003584	Late onset	8996	NOL3	OMIM:614937
HP:0011463	Childhood onset	64170	CARD9	OMIM:212050
HP:0011463	Childhood onset	2673	GFPT1	OMIM:608931
HP:0011463	Childhood onset	2673	GFPT1	OMIM:610542
HP:0011463	Childhood onset	1145	CHRNE	OMIM:608931
HP:0011463	Childhood onset	55703	POLR3B	OMIM:614381
HP:0011463	Childhood onset	55703	POLR3B	OMIM:607694
HP:0011463	Childhood onset	55703	POLR3B	OMIM:619742
HP:0011463	Childhood onset	7428	VHL	OMIM:263400
HP:0011463	Childhood onset	583	BBS2	OMIM:616562
HP:0011463	Childhood onset	8573	CASK	OMIM:300908
HP:0011463	Childhood onset	2539	G6PD	OMIM:300908
HP:0011463	Childhood onset	55240	STEAP3	OMIM:615234
HP:0011463	Childhood onset	3767	KCNJ11	OMIM:616329
HP:0011463	Childhood onset	3767	KCNJ11	OMIM:610582
HP:0011463	Childhood onset	5165	PDK3	OMIM:300905
HP:0011463	Childhood onset	825	CAPN3	OMIM:253600
HP:0011463	Childhood onset	825	CAPN3	OMIM:618129
HP:0011463	Childhood onset	4210	MEFV	OMIM:249100
HP:0011463	Childhood onset	4210	MEFV	OMIM:608068
HP:0011463	Childhood onset	8566	PDXK	OMIM:618511
HP:0011463	Childhood onset	374462	PTPRQ	OMIM:617663
HP:0011463	Childhood onset	4141	MARS1	OMIM:615486
HP:0011463	Childhood onset	5155	PDGFB	OMIM:615483
HP:0011463	Childhood onset	5155	PDGFB	OMIM:213600
HP:0011463	Childhood onset	57582	KCNT1	OMIM:615005
HP:0011463	Childhood onset	477	ATP1A2	OMIM:619605
HP:0011463	Childhood onset	477	ATP1A2	OMIM:104290
HP:0011463	Childhood onset	478	ATP1A3	OMIM:619606
HP:0011463	Childhood onset	478	ATP1A3	OMIM:128235
HP:0011463	Childhood onset	478	ATP1A3	OMIM:601338
HP:0011463	Childhood onset	5184	PEPD	OMIM:170100
HP:0011463	Childhood onset	84936	ZFYVE19	OMIM:619849
HP:0011463	Childhood onset	4790	NFKB1	OMIM:616576
HP:0011463	Childhood onset	84520	GON7	OMIM:619603
HP:0011463	Childhood onset	8526	DGKE	OMIM:615008
HP:0011463	Childhood onset	56259	CTNNBL1	OMIM:619846
HP:0011463	Childhood onset	81846	SBF2	OMIM:604563
HP:0011463	Childhood onset	79158	GNPTAB	OMIM:252500
HP:0011463	Childhood onset	79158	GNPTAB	OMIM:252600
HP:0011463	Childhood onset	4625	MYH7	OMIM:160500
HP:0011463	Childhood onset	4625	MYH7	OMIM:608358
HP:0011463	Childhood onset	4625	MYH7	OMIM:613426
HP:0011463	Childhood onset	284403	WDR62	OMIM:604317
HP:0011463	Childhood onset	6444	SGCD	OMIM:601287
HP:0011463	Childhood onset	2212	FCGR2A	OMIM:219700
HP:0011463	Childhood onset	7040	TGFB1	OMIM:219700
HP:0011463	Childhood onset	1080	CFTR	OMIM:219700
HP:0011463	Childhood onset	54345	SOX18	OMIM:607823
HP:0011463	Childhood onset	6772	STAT1	OMIM:614162
HP:0011463	Childhood onset	6772	STAT1	OMIM:614892
HP:0011463	Childhood onset	103	ADAR	OMIM:615010
HP:0011463	Childhood onset	1280	COL2A1	OMIM:616583
HP:0011463	Childhood onset	7343	UBTF	OMIM:617672
HP:0011463	Childhood onset	84146	ZNF644	OMIM:614167
HP:0011463	Childhood onset	3665	IRF7	OMIM:616345
HP:0011463	Childhood onset	51109	RDH11	OMIM:616108
HP:0011463	Childhood onset	79029	AFG2B	OMIM:619615
HP:0011463	Childhood onset	3614	IMPDH1	OMIM:180105
HP:0011463	Childhood onset	1594	CYP27B1	OMIM:264700
HP:0011463	Childhood onset	23312	DMXL2	OMIM:616113
HP:0011463	Childhood onset	57231	SNX14	OMIM:616354
HP:0011463	Childhood onset	80739	MPIG6B	OMIM:617441
HP:0011463	Childhood onset	23086	EXPH5	OMIM:615028
HP:0011463	Childhood onset	3340	NDST1	OMIM:616116
HP:0011463	Childhood onset	51702	PADI3	OMIM:191480
HP:0011463	Childhood onset	6905	TBCE	OMIM:617207
HP:0011463	Childhood onset	4645	MYO5B	OMIM:619868
HP:0011463	Childhood onset	5373	PMM2	OMIM:212065
HP:0011463	Childhood onset	11081	KERA	OMIM:217300
HP:0011463	Childhood onset	113612	CYP2U1	OMIM:615030
HP:0011463	Childhood onset	5146	PDE6C	OMIM:613093
HP:0011463	Childhood onset	9895	TECPR2	OMIM:615031
HP:0011463	Childhood onset	1770	DNAH9	OMIM:618300
HP:0011463	Childhood onset	3737	KCNA2	OMIM:616366
HP:0011463	Childhood onset	3590	IL11RA	OMIM:614188
HP:0011463	Childhood onset	5314	PKHD1	OMIM:263200
HP:0011463	Childhood onset	23259	DDHD2	OMIM:615033
HP:0011463	Childhood onset	2162	F13A1	OMIM:188050
HP:0011463	Childhood onset	2147	F2	OMIM:188050
HP:0011463	Childhood onset	3026	HABP2	OMIM:188050
HP:0011463	Childhood onset	4524	MTHFR	OMIM:188050
HP:0011463	Childhood onset	5593	PRKG2	OMIM:619638
HP:0011463	Childhood onset	5593	PRKG2	OMIM:619636
HP:0011463	Childhood onset	399	RHOH	OMIM:618307
HP:0011463	Childhood onset	55280	CWF19L1	OMIM:616127
HP:0011463	Childhood onset	6262	RYR2	OMIM:604772
HP:0011463	Childhood onset	845	CASQ2	OMIM:604772
HP:0011463	Childhood onset	845	CASQ2	OMIM:611938
HP:0011463	Childhood onset	10345	TRDN	OMIM:604772
HP:0011463	Childhood onset	10345	TRDN	OMIM:615441
HP:0011463	Childhood onset	3507	IGHM	OMIM:601495
HP:0011463	Childhood onset	5605	MAP2K2	OMIM:615280
HP:0011463	Childhood onset	6101	RP1	OMIM:180100
HP:0011463	Childhood onset	144811	LACC1	OMIM:618795
HP:0011463	Childhood onset	9276	COPB2	OMIM:619884
HP:0011463	Childhood onset	1615	DARS1	OMIM:615281
HP:0011463	Childhood onset	3098	HK1	OMIM:617460
HP:0011463	Childhood onset	57169	ZNFX1	OMIM:619644
HP:0011463	Childhood onset	10991	SLC38A3	OMIM:619881
HP:0011463	Childhood onset	27068	PPA2	OMIM:617222
HP:0011463	Childhood onset	3579	CXCR2	OMIM:619407
HP:0011463	Childhood onset	10531	PITRM1	OMIM:619405
HP:0011463	Childhood onset	3373	HYAL1	OMIM:601492
HP:0011463	Childhood onset	487	ATP2A1	OMIM:601003
HP:0011463	Childhood onset	23299	BICD2	OMIM:615290
HP:0011463	Childhood onset	55739	NAXD	OMIM:618321
HP:0011463	Childhood onset	5966	REL	OMIM:619652
HP:0011463	Childhood onset	326	AIRE	OMIM:240300
HP:0011463	Childhood onset	197258	FCSK	OMIM:618324
HP:0011463	Childhood onset	3423	IDS	OMIM:309900
HP:0011463	Childhood onset	2694	CBLIF	OMIM:261000
HP:0011463	Childhood onset	57679	ALS2	OMIM:205100
HP:0011463	Childhood onset	57679	ALS2	OMIM:607225
HP:0011463	Childhood onset	57679	ALS2	OMIM:606353
HP:0011463	Childhood onset	345193	LRIT3	OMIM:615058
HP:0011463	Childhood onset	2260	FGFR1	OMIM:166250
HP:0011463	Childhood onset	84131	CEP78	OMIM:617236
HP:0011463	Childhood onset	23499	MACF1	OMIM:618325
HP:0011463	Childhood onset	54532	USP53	OMIM:619658
HP:0011463	Childhood onset	3339	HSPG2	OMIM:255800
HP:0011463	Childhood onset	2055	CLN8	OMIM:600143
HP:0011463	Childhood onset	1536	CYBB	OMIM:306400
HP:0011463	Childhood onset	9742	IFT140	OMIM:266920
HP:0011463	Childhood onset	9742	IFT140	OMIM:617781
HP:0011463	Childhood onset	79734	KCTD17	OMIM:616398
HP:0011463	Childhood onset	3508	IGHMBP2	OMIM:616155
HP:0011463	Childhood onset	55151	TMEM38B	OMIM:615066
HP:0011463	Childhood onset	113220	KIF12	OMIM:619662
HP:0011463	Childhood onset	10459	MAD2L2	OMIM:617243
HP:0011463	Childhood onset	2583	B4GALNT1	OMIM:609195
HP:0011463	Childhood onset	5813	PURA	OMIM:616158
HP:0011463	Childhood onset	5426	POLE	OMIM:618336
HP:0011463	Childhood onset	1642	DDB1	OMIM:619426
HP:0011463	Childhood onset	2074	ERCC6	OMIM:133540
HP:0011463	Childhood onset	2074	ERCC6	OMIM:278800
HP:0011463	Childhood onset	212	ALAS2	OMIM:300751
HP:0011463	Childhood onset	212	ALAS2	OMIM:300752
HP:0011463	Childhood onset	6448	SGSH	OMIM:252900
HP:0011463	Childhood onset	695	BTK	OMIM:300755
HP:0011463	Childhood onset	2243	FGA	OMIM:202400
HP:0011463	Childhood onset	2244	FGB	OMIM:202400
HP:0011463	Childhood onset	2266	FGG	OMIM:202400
HP:0011463	Childhood onset	4175	MCM6	OMIM:223100
HP:0011463	Childhood onset	7062	TCHH	OMIM:617252
HP:0011463	Childhood onset	1778	DYNC1H1	OMIM:158600
HP:0011463	Childhood onset	1441	CSF3R	OMIM:617014
HP:0011463	Childhood onset	2187	FANCB	OMIM:300514
HP:0011463	Childhood onset	54517	PUS7	OMIM:618342
HP:0011463	Childhood onset	79912	PYROXD1	OMIM:617258
HP:0011463	Childhood onset	55746	NUP133	OMIM:618349
HP:0011463	Childhood onset	55746	NUP133	OMIM:618177
HP:0011463	Childhood onset	9842	PLEKHM1	OMIM:618107
HP:0011463	Childhood onset	10397	NDRG1	OMIM:601455
HP:0011463	Childhood onset	29887	SNX10	OMIM:615085
HP:0011463	Childhood onset	55243	KIRREL1	OMIM:619201
HP:0011463	Childhood onset	5515	PPP2CA	OMIM:618354
HP:0011463	Childhood onset	81790	RNF170	OMIM:619686
HP:0011463	Childhood onset	745	MYRF	OMIM:618113
HP:0011463	Childhood onset	5610	EIF2AK2	OMIM:619687
HP:0011463	Childhood onset	3784	KCNQ1	OMIM:192500
HP:0011463	Childhood onset	55182	RNF220	OMIM:619688
HP:0011463	Childhood onset	6096	RORB	OMIM:618357
HP:0011463	Childhood onset	112755	STX1B	OMIM:616172
HP:0011463	Childhood onset	518	ATP5MC3	OMIM:619681
HP:0011463	Childhood onset	8492	PRSS12	OMIM:249500
HP:0011463	Childhood onset	2784	GNB3	OMIM:617024
HP:0011463	Childhood onset	51163	DBR1	OMIM:619441
HP:0011463	Childhood onset	8912	CACNA1H	OMIM:617027
HP:0011463	Childhood onset	331	XIAP	OMIM:308240
HP:0011463	Childhood onset	4068	SH2D1A	OMIM:308240
HP:0011463	Childhood onset	427	ASAH1	OMIM:159950
HP:0011463	Childhood onset	427	ASAH1	OMIM:228000
HP:0011463	Childhood onset	8888	MCM3AP	OMIM:618124
HP:0011463	Childhood onset	153642	ARSK	OMIM:619698
HP:0011463	Childhood onset	537	ATP6AP1	OMIM:300972
HP:0011463	Childhood onset	24140	FTSJ1	OMIM:309549
HP:0011463	Childhood onset	7922	SLC39A7	OMIM:619693
HP:0011463	Childhood onset	513	ATP5F1D	OMIM:618120
HP:0011463	Childhood onset	3746	KCNC1	OMIM:616187
HP:0011463	Childhood onset	64856	VWA1	OMIM:619216
HP:0011463	Childhood onset	2010	EMD	OMIM:310300
HP:0011463	Childhood onset	51102	MECR	OMIM:617282
HP:0011463	Childhood onset	23418	CRB1	OMIM:600105
HP:0011463	Childhood onset	23418	CRB1	OMIM:613835
HP:0011463	Childhood onset	7401	CLRN1	OMIM:276902
HP:0011463	Childhood onset	5611	DNAJC3	OMIM:616192
HP:0011463	Childhood onset	6390	SDHB	OMIM:619224
HP:0011463	Childhood onset	55630	SLC39A4	OMIM:201100
HP:0011463	Childhood onset	9757	KMT2B	OMIM:617284
HP:0011463	Childhood onset	7174	TPP2	OMIM:619220
HP:0011463	Childhood onset	2318	FLNC	OMIM:617047
HP:0011463	Childhood onset	146206	CARMIL2	OMIM:618131
HP:0011463	Childhood onset	55340	GIMAP5	OMIM:619463
HP:0011463	Childhood onset	2992	GYG1	OMIM:616199
HP:0011463	Childhood onset	2783	GNB2	OMIM:619464
HP:0011463	Childhood onset	84705	GTPBP3	OMIM:616198
HP:0011463	Childhood onset	3908	LAMA2	OMIM:618138
HP:0011463	Childhood onset	220296	HEPACAM	OMIM:613925
HP:0011463	Childhood onset	65260	COA7	OMIM:618387
HP:0011463	Childhood onset	10205	MPZL2	OMIM:618145
HP:0011463	Childhood onset	55697	VAC14	OMIM:617054
HP:0011463	Childhood onset	2155	F7	OMIM:227500
HP:0011463	Childhood onset	134218	DNAJC21	OMIM:617052
HP:0011463	Childhood onset	23316	CUX2	OMIM:618141
HP:0011463	Childhood onset	64849	SLC13A3	OMIM:618384
HP:0011463	Childhood onset	570	BAAT	OMIM:619232
HP:0011463	Childhood onset	29927	SEC61A1	OMIM:617056
HP:0011463	Childhood onset	4070	TACSTD2	OMIM:204870
HP:0011463	Childhood onset	84196	USP48	OMIM:620227
HP:0011463	Childhood onset	7345	UCHL1	OMIM:620221
HP:0011463	Childhood onset	286	ANK1	OMIM:182900
HP:0011463	Childhood onset	6331	SCN5A	OMIM:603830
HP:0011463	Childhood onset	6331	SCN5A	OMIM:608567
HP:0011463	Childhood onset	7204	TRIO	OMIM:617061
HP:0011463	Childhood onset	84868	HAVCR2	OMIM:618398
HP:0011463	Childhood onset	2690	GHR	OMIM:262500
HP:0011463	Childhood onset	2628	GATM	OMIM:134600
HP:0011463	Childhood onset	2566	GABRG2	OMIM:618396
HP:0011463	Childhood onset	2566	GABRG2	OMIM:607681
HP:0011463	Childhood onset	2273	FHL1	OMIM:300717
HP:0011463	Childhood onset	2273	FHL1	OMIM:300280
HP:0011463	Childhood onset	3419	IDH3A	OMIM:619007
HP:0011463	Childhood onset	643418	LIPN	OMIM:613943
HP:0011463	Childhood onset	4773	NFATC2	OMIM:620232
HP:0011463	Childhood onset	2799	GNS	OMIM:252940
HP:0011463	Childhood onset	10551	AGR2	OMIM:620233
HP:0011463	Childhood onset	60386	SLC25A19	OMIM:613710
HP:0011463	Childhood onset	203190	LGI3	OMIM:620007
HP:0011463	Childhood onset	6010	RHO	OMIM:610445
HP:0011463	Childhood onset	6010	RHO	OMIM:613731
HP:0011463	Childhood onset	1073	CFL2	OMIM:610687
HP:0011463	Childhood onset	60506	NYX	OMIM:310500
HP:0011463	Childhood onset	138050	HGSNAT	OMIM:252930
HP:0011463	Childhood onset	138050	HGSNAT	OMIM:616544
HP:0011463	Childhood onset	875	CBS	OMIM:236200
HP:0011463	Childhood onset	5354	PLP1	OMIM:312920
HP:0011463	Childhood onset	779	CACNA1S	OMIM:620246
HP:0011463	Childhood onset	11277	TREX1	OMIM:610448
HP:0011463	Childhood onset	10079	ATP9A	OMIM:620242
HP:0011463	Childhood onset	124093	CCDC78	OMIM:614807
HP:0011463	Childhood onset	6334	SCN8A	OMIM:617080
HP:0011463	Childhood onset	6334	SCN8A	OMIM:614306
HP:0011463	Childhood onset	54936	ADPRS	OMIM:618170
HP:0011463	Childhood onset	50617	ATP6V0A4	OMIM:602722
HP:0011463	Childhood onset	1893	ECM1	OMIM:247100
HP:0011463	Childhood onset	84842	HPDL	OMIM:619026
HP:0011463	Childhood onset	9927	MFN2	OMIM:617087
HP:0011463	Childhood onset	9927	MFN2	OMIM:601152
HP:0011463	Childhood onset	118429	ANTXR2	OMIM:228600
HP:0011463	Childhood onset	23500	DAAM2	OMIM:619263
HP:0011463	Childhood onset	284361	EMC10	OMIM:619264
HP:0011463	Childhood onset	25793	FBXO7	OMIM:260300
HP:0011463	Childhood onset	79902	NUP85	OMIM:618176
HP:0011463	Childhood onset	8910	SGCE	OMIM:159900
HP:0011463	Childhood onset	83550	GPR101	OMIM:300942
HP:0011463	Childhood onset	4689	NCF4	OMIM:613960
HP:0011463	Childhood onset	6326	SCN2A	OMIM:613721
HP:0011463	Childhood onset	10749	KIF1C	OMIM:611302
HP:0011463	Childhood onset	5339	PLEC	OMIM:613723
HP:0011463	Childhood onset	5339	PLEC	OMIM:616487
HP:0011463	Childhood onset	1584	CYP11B1	OMIM:103900
HP:0011463	Childhood onset	5256	PHKA2	OMIM:306000
HP:0011463	Childhood onset	5696	PSMB8	OMIM:256040
HP:0011463	Childhood onset	8398	PLA2G6	OMIM:610217
HP:0011463	Childhood onset	8398	PLA2G6	OMIM:256600
HP:0011463	Childhood onset	1308	COL17A1	OMIM:122400
HP:0011463	Childhood onset	6235	RPS29	OMIM:615909
HP:0011463	Childhood onset	80036	TRPM3	OMIM:620253
HP:0011463	Childhood onset	7424	VEGFC	OMIM:615907
HP:0011463	Childhood onset	4693	NDP	OMIM:305390
HP:0011463	Childhood onset	64374	SIL1	OMIM:248800
HP:0011463	Childhood onset	2643	GCH1	OMIM:128230
HP:0011463	Childhood onset	26960	NBEA	OMIM:619157
HP:0011463	Childhood onset	5009	OTC	OMIM:311250
HP:0011463	Childhood onset	79083	MLPH	OMIM:609227
HP:0011463	Childhood onset	51343	FZR1	OMIM:620145
HP:0011463	Childhood onset	5660	PSAP	OMIM:249900
HP:0011463	Childhood onset	23149	FCHO1	OMIM:619164
HP:0011463	Childhood onset	10461	MERTK	OMIM:613862
HP:0011463	Childhood onset	1135	CHRNA2	OMIM:610353
HP:0011463	Childhood onset	55788	LMBRD1	OMIM:277380
HP:0011463	Childhood onset	80055	PGAP1	OMIM:615802
HP:0011463	Childhood onset	54476	RNF216	OMIM:212840
HP:0011463	Childhood onset	25778	DSTYK	OMIM:270750
HP:0011463	Childhood onset	58528	RRAGD	OMIM:620152
HP:0011463	Childhood onset	4718	NDUFC2	OMIM:619170
HP:0011463	Childhood onset	2483	FRG1	OMIM:158900
HP:0011463	Childhood onset	6452	SH3BP2	OMIM:118400
HP:0011463	Childhood onset	64324	NSD1	OMIM:117550
HP:0011463	Childhood onset	64207	IRF2BPL	OMIM:618088
HP:0011463	Childhood onset	146862	UNC45B	OMIM:619178
HP:0011463	Childhood onset	6261	RYR1	OMIM:255320
HP:0011463	Childhood onset	6261	RYR1	OMIM:619542
HP:0011463	Childhood onset	3952	LEP	OMIM:614962
HP:0011463	Childhood onset	2538	G6PC1	OMIM:232200
HP:0011463	Childhood onset	353	APRT	OMIM:614723
HP:0011463	Childhood onset	6794	STK11	OMIM:175200
HP:0011463	Childhood onset	3778	KCNMA1	OMIM:609446
HP:0011463	Childhood onset	1509	CTSD	OMIM:610127
HP:0011463	Childhood onset	9570	GOSR2	OMIM:620166
HP:0011463	Childhood onset	9570	GOSR2	OMIM:614018
HP:0011463	Childhood onset	80326	WNT10A	OMIM:257980
HP:0011463	Childhood onset	10555	AGPAT2	OMIM:608594
HP:0011463	Childhood onset	5313	PKLR	OMIM:266200
HP:0011463	Childhood onset	1678	TIMM8A	OMIM:304700
HP:0011463	Childhood onset	9750	RIPOR2	OMIM:607017
HP:0011463	Childhood onset	80856	LNPK	OMIM:618090
HP:0011463	Childhood onset	7374	UNG	OMIM:608106
HP:0011463	Childhood onset	633	BGN	OMIM:300106
HP:0011463	Childhood onset	54805	CNNM2	OMIM:613882
HP:0011463	Childhood onset	54805	CNNM2	OMIM:616418
HP:0011463	Childhood onset	9517	SPTLC2	OMIM:613640
HP:0011463	Childhood onset	1729	DIAPH1	OMIM:124900
HP:0011463	Childhood onset	1832	DSP	OMIM:615821
HP:0011463	Childhood onset	11160	ERLIN2	OMIM:611225
HP:0011463	Childhood onset	25942	SIN3A	OMIM:613406
HP:0011463	Childhood onset	9096	TBX18	OMIM:143400
HP:0011463	Childhood onset	57465	TBC1D24	OMIM:608105
HP:0011463	Childhood onset	79152	FA2H	OMIM:612319
HP:0011463	Childhood onset	113278	SLC52A3	OMIM:211530
HP:0011463	Childhood onset	3425	IDUA	OMIM:607015
HP:0011463	Childhood onset	54332	GDAP1	OMIM:608340
HP:0011463	Childhood onset	54332	GDAP1	OMIM:607706
HP:0011463	Childhood onset	4952	OCRL	OMIM:300555
HP:0011463	Childhood onset	114548	NLRP3	OMIM:191900
HP:0011463	Childhood onset	114548	NLRP3	OMIM:607115
HP:0011463	Childhood onset	3035	HARS1	OMIM:614504
HP:0011463	Childhood onset	90624	LYRM7	OMIM:615838
HP:0011463	Childhood onset	5888	RAD51	OMIM:614508
HP:0011463	Childhood onset	5428	POLG	OMIM:203700
HP:0011463	Childhood onset	643226	GRXCR2	OMIM:615837
HP:0011463	Childhood onset	80704	SLC19A3	OMIM:607483
HP:0011463	Childhood onset	80025	PANK2	OMIM:234200
HP:0011463	Childhood onset	23175	LPIN1	OMIM:268200
HP:0011463	Childhood onset	3251	HPRT1	OMIM:300322
HP:0011463	Childhood onset	4784	NFIX	OMIM:614753
HP:0011463	Childhood onset	1798	DPAGT1	OMIM:614750
HP:0011463	Childhood onset	70	ACTC1	OMIM:613424
HP:0011463	Childhood onset	182	JAG1	OMIM:118450
HP:0011463	Childhood onset	182	JAG1	OMIM:619574
HP:0011463	Childhood onset	84946	LTV1	OMIM:620199
HP:0011463	Childhood onset	85452	CFAP74	OMIM:620197
HP:0011463	Childhood onset	8242	KDM5C	OMIM:300534
HP:0011463	Childhood onset	1186	CLCN7	OMIM:611490
HP:0011463	Childhood onset	1374	CPT1A	OMIM:255120
HP:0011463	Childhood onset	64802	NMNAT1	OMIM:608553
HP:0011463	Childhood onset	4942	OAT	OMIM:258870
HP:0011463	Childhood onset	23479	ISCU	OMIM:255125
HP:0011463	Childhood onset	23093	TTLL5	OMIM:615860
HP:0011463	Childhood onset	1376	CPT2	OMIM:255110
HP:0011463	Childhood onset	51308	REEP2	OMIM:615625
HP:0011463	Childhood onset	144245	ALG10B	OMIM:613688
HP:0011463	Childhood onset	3757	KCNH2	OMIM:613688
HP:0011463	Childhood onset	57165	GJC2	OMIM:613206
HP:0011463	Childhood onset	57165	GJC2	OMIM:613480
HP:0011463	Childhood onset	4000	LMNA	OMIM:613205
HP:0011463	Childhood onset	4000	LMNA	OMIM:151660
HP:0011463	Childhood onset	4000	LMNA	OMIM:616516
HP:0011463	Childhood onset	4000	LMNA	OMIM:248370
HP:0011463	Childhood onset	4000	LMNA	OMIM:212112
HP:0011463	Childhood onset	6664	SOX11	OMIM:615866
HP:0011463	Childhood onset	4204	MECP2	OMIM:312750
HP:0011463	Childhood onset	4204	MECP2	OMIM:300496
HP:0011463	Childhood onset	57410	SCYL1	OMIM:616719
HP:0011463	Childhood onset	339453	TMEM240	OMIM:607454
HP:0011463	Childhood onset	4976	OPA1	OMIM:210000
HP:0011463	Childhood onset	4976	OPA1	OMIM:125250
HP:0011463	Childhood onset	11128	POLR3A	OMIM:607694
HP:0011463	Childhood onset	4054	LTBP3	OMIM:617809
HP:0011463	Childhood onset	348980	HCN1	OMIM:615871
HP:0011463	Childhood onset	80184	CEP290	OMIM:610189
HP:0011463	Childhood onset	11133	KPTN	OMIM:615637
HP:0011463	Childhood onset	406960	MIR184	OMIM:614303
HP:0011463	Childhood onset	4747	NEFL	OMIM:607684
HP:0011463	Childhood onset	4747	NEFL	OMIM:617882
HP:0011463	Childhood onset	4747	NEFL	OMIM:607734
HP:0011463	Childhood onset	4487	MSX1	OMIM:106600
HP:0011463	Childhood onset	546	ATRX	OMIM:301040
HP:0011463	Childhood onset	785	CACNB4	OMIM:607682
HP:0011463	Childhood onset	57379	AICDA	OMIM:605258
HP:0011463	Childhood onset	80347	COASY	OMIM:615643
HP:0011463	Childhood onset	123016	TTC8	OMIM:613464
HP:0011463	Childhood onset	1806	DPYD	OMIM:274270
HP:0011463	Childhood onset	10058	ABCB6	OMIM:615402
HP:0011463	Childhood onset	84816	RTN4IP1	OMIM:616732
HP:0011463	Childhood onset	84876	ORAI1	OMIM:615883
HP:0011463	Childhood onset	57505	AARS2	OMIM:615889
HP:0011463	Childhood onset	3861	KRT14	OMIM:131800
HP:0011463	Childhood onset	3861	KRT14	OMIM:131760
HP:0011463	Childhood onset	123041	SLC24A4	OMIM:615887
HP:0011463	Childhood onset	10235	RASGRP2	OMIM:615888
HP:0011463	Childhood onset	90161	HS6ST2	OMIM:301025
HP:0011463	Childhood onset	4694	NDUFA1	OMIM:301020
HP:0011463	Childhood onset	25953	PNKD	OMIM:118800
HP:0011463	Childhood onset	727676	SNORD118	OMIM:614561
HP:0011463	Childhood onset	23732	FRRS1L	OMIM:616981
HP:0011463	Childhood onset	1181	CLCN2	OMIM:615651
HP:0011463	Childhood onset	54885	TBC1D8B	OMIM:301028
HP:0011463	Childhood onset	5631	PRPS1	OMIM:311070
HP:0011463	Childhood onset	7128	TNFAIP3	OMIM:616744
HP:0011463	Childhood onset	10560	SLC19A2	OMIM:249270
HP:0011463	Childhood onset	116150	NUS1	OMIM:617831
HP:0011463	Childhood onset	545	ATR	OMIM:614564
HP:0011463	Childhood onset	10342	TFG	OMIM:615658
HP:0011463	Childhood onset	5837	PYGM	OMIM:232600
HP:0011463	Childhood onset	6678	SPARC	OMIM:616507
HP:0011463	Childhood onset	4361	MRE11	OMIM:604391
HP:0011463	Childhood onset	6638	SNRPN	OMIM:209850
HP:0011463	Childhood onset	56479	KCNQ5	OMIM:617601
HP:0011463	Childhood onset	23152	CIC	OMIM:617600
HP:0011463	Childhood onset	57449	PLEKHG5	OMIM:611067
HP:0011463	Childhood onset	149461	CLDN19	OMIM:248190
HP:0011463	Childhood onset	3848	KRT1	OMIM:607654
HP:0011463	Childhood onset	10568	SLC34A2	OMIM:265100
HP:0011463	Childhood onset	930	CD19	OMIM:613493
HP:0011463	Childhood onset	8270	LAGE3	OMIM:301006
HP:0011463	Childhood onset	3702	ITK	OMIM:613011
HP:0011463	Childhood onset	931	MS4A1	OMIM:613495
HP:0011463	Childhood onset	131669	UROC1	OMIM:276880
HP:0011463	Childhood onset	199221	DZIP1L	OMIM:617610
HP:0011463	Childhood onset	3514	IGKC	OMIM:614102
HP:0011463	Childhood onset	80781	COL18A1	OMIM:267750
HP:0011463	Childhood onset	122553	TRAPPC6B	OMIM:617862
HP:0011463	Childhood onset	51816	ADA2	OMIM:615688
HP:0011463	Childhood onset	491	ATP2B2	OMIM:619804
HP:0011463	Childhood onset	23204	ARL6IP1	OMIM:615685
HP:0011463	Childhood onset	51364	ZMYND10	OMIM:615444
HP:0011463	Childhood onset	50615	IL21R	OMIM:615207
HP:0011463	Childhood onset	5261	PHKG2	OMIM:613027
HP:0011463	Childhood onset	2259	FGF14	OMIM:193003
HP:0011463	Childhood onset	5978	REST	OMIM:617626
HP:0011463	Childhood onset	5978	REST	OMIM:616806
HP:0011463	Childhood onset	9371	KIF3B	OMIM:618955
HP:0011463	Childhood onset	80208	SPG11	OMIM:604360
HP:0011463	Childhood onset	80208	SPG11	OMIM:616668
HP:0011463	Childhood onset	10577	NPC2	OMIM:607625
HP:0011463	Childhood onset	5422	POLA1	OMIM:301220
HP:0011463	Childhood onset	24	ABCA4	OMIM:604116
HP:0011463	Childhood onset	7991	TUSC3	OMIM:611093
HP:0011463	Childhood onset	51081	MRPS7	OMIM:617872
HP:0011463	Childhood onset	84823	LMNB2	OMIM:616540
HP:0011463	Childhood onset	112752	IFT43	OMIM:617871
HP:0011463	Childhood onset	23250	ATP11A	OMIM:619810
HP:0011463	Childhood onset	57728	WDR19	OMIM:616307
HP:0011463	Childhood onset	57728	WDR19	OMIM:614377
HP:0011463	Childhood onset	10383	TUBB4B	OMIM:617879
HP:0011463	Childhood onset	81570	CLPB	OMIM:619813
HP:0011463	Childhood onset	84059	ADGRV1	OMIM:604352
HP:0011463	Childhood onset	8086	AAAS	OMIM:231550
HP:0011463	Childhood onset	6609	SMPD1	OMIM:607616
HP:0011463	Childhood onset	2182	ACSL4	OMIM:300387
HP:0011463	Childhood onset	672	BRCA1	OMIM:617883
HP:0011463	Childhood onset	83452	RAB33B	OMIM:615222
HP:0011463	Childhood onset	10280	SIGMAR1	OMIM:614373
HP:0011463	Childhood onset	4643	MYO1E	OMIM:614131
HP:0011463	Childhood onset	22861	NLRP1	OMIM:615225
HP:0011463	Childhood onset	22948	CCT5	OMIM:256840
HP:0011463	Childhood onset	51763	INPP5K	OMIM:617404
HP:0011463	Childhood onset	55367	PIDD1	OMIM:619827
HP:0011463	Childhood onset	109	ADCY3	OMIM:617885
HP:0011463	Childhood onset	6929	TCF3	OMIM:619824
HP:0011463	Childhood onset	64699	TMPRSS3	OMIM:601072
HP:0011463	Childhood onset	6786	STIM1	OMIM:160565
HP:0011463	Childhood onset	4099	MAG	OMIM:616680
HP:0011463	Childhood onset	29925	GMPPB	OMIM:615350
HP:0011463	Childhood onset	29925	GMPPB	OMIM:615352
HP:0011463	Childhood onset	57468	SLC12A5	OMIM:616685
HP:0011463	Childhood onset	9860	LRIG2	OMIM:615112
HP:0011463	Childhood onset	2132	EXT2	OMIM:616682
HP:0011463	Childhood onset	2132	EXT2	OMIM:133701
HP:0011463	Childhood onset	253017	TECRL	OMIM:614021
HP:0011463	Childhood onset	8029	CUBN	OMIM:261100
HP:0011463	Childhood onset	3783	KCNN4	OMIM:616689
HP:0011463	Childhood onset	1000	CDH2	OMIM:619957
HP:0011463	Childhood onset	84818	IL17RC	OMIM:616445
HP:0011463	Childhood onset	7415	VCP	OMIM:616687
HP:0011463	Childhood onset	8710	SERPINB7	OMIM:615598
HP:0011463	Childhood onset	60684	TRAPPC11	OMIM:615356
HP:0011463	Childhood onset	400916	CHCHD10	OMIM:616209
HP:0011463	Childhood onset	5361	PLXNA1	OMIM:619955
HP:0011463	Childhood onset	2720	GLB1	OMIM:230600
HP:0011463	Childhood onset	2720	GLB1	OMIM:230650
HP:0011463	Childhood onset	3703	STT3A	OMIM:619714
HP:0011463	Childhood onset	755	CFAP410	OMIM:602271
HP:0011463	Childhood onset	755	CFAP410	OMIM:617547
HP:0011463	Childhood onset	7552	ZNF711	OMIM:300803
HP:0011463	Childhood onset	8842	PROM1	OMIM:612095
HP:0011463	Childhood onset	375790	AGRN	OMIM:615120
HP:0011463	Childhood onset	25959	KANK2	OMIM:617783
HP:0011463	Childhood onset	7273	TTN	OMIM:608807
HP:0011463	Childhood onset	790	CAD	OMIM:616457
HP:0011463	Childhood onset	1106	CHD2	OMIM:615369
HP:0011463	Childhood onset	2670	GFAP	OMIM:203450
HP:0011463	Childhood onset	92840	REEP6	OMIM:617304
HP:0011463	Childhood onset	472	ATM	OMIM:208900
HP:0011463	Childhood onset	57156	TMEM63C	OMIM:619966
HP:0011463	Childhood onset	3781	KCNN2	OMIM:619725
HP:0011463	Childhood onset	120227	CYP2R1	OMIM:600081
HP:0011463	Childhood onset	55034	MOCOS	OMIM:603592
HP:0011463	Childhood onset	54	ACP5	OMIM:607944
HP:0011463	Childhood onset	80153	EDC3	OMIM:616460
HP:0011463	Childhood onset	1298	COL9A2	OMIM:614284
HP:0011463	Childhood onset	1298	COL9A2	OMIM:600204
HP:0011463	Childhood onset	286204	CRB2	OMIM:616220
HP:0011463	Childhood onset	9364	RAB28	OMIM:615374
HP:0011463	Childhood onset	79797	ZNF408	OMIM:616468
HP:0011463	Childhood onset	10352	WARS2	OMIM:619738
HP:0011463	Childhood onset	56172	ANKH	OMIM:123000
HP:0011463	Childhood onset	85365	ALG2	OMIM:616228
HP:0011463	Childhood onset	85365	ALG2	OMIM:607906
HP:0011463	Childhood onset	6445	SGCG	OMIM:253700
HP:0011463	Childhood onset	4323	MMP14	OMIM:277950
HP:0011463	Childhood onset	203286	ANKS6	OMIM:615382
HP:0011463	Childhood onset	84504	NKX6-2	OMIM:617560
HP:0011463	Childhood onset	55214	P3H2	OMIM:614292
HP:0011463	Childhood onset	2744	GLS	OMIM:618412
HP:0011463	Childhood onset	5442	POLRMT	OMIM:619743
HP:0011463	Childhood onset	83636	C19orf12	OMIM:614298
HP:0011463	Childhood onset	28755	TRAC	OMIM:615387
HP:0011463	Childhood onset	7466	WFS1	OMIM:614296
HP:0011463	Childhood onset	7466	WFS1	OMIM:222300
HP:0011463	Childhood onset	51271	UBAP1	OMIM:618418
HP:0011463	Childhood onset	5950	RBP4	OMIM:615147
HP:0011463	Childhood onset	10861	SLC26A1	OMIM:167030
HP:0011463	Childhood onset	54840	APTX	OMIM:208920
HP:0011463	Childhood onset	10594	PRPF8	OMIM:600059
HP:0011463	Childhood onset	339983	NAT8L	OMIM:614063
HP:0011463	Childhood onset	3572	IL6ST	OMIM:619752
HP:0011463	Childhood onset	85301	COL27A1	OMIM:615155
HP:0011463	Childhood onset	8879	SGPL1	OMIM:617575
HP:0011463	Childhood onset	805	CALM2	OMIM:616249
HP:0011463	Childhood onset	54902	TTC19	OMIM:615157
HP:0011463	Childhood onset	6023	RMRP	OMIM:250250
HP:0011463	Childhood onset	6023	RMRP	OMIM:250460
HP:0011463	Childhood onset	57863	CADM3	OMIM:619519
HP:0011463	Childhood onset	84665	MYPN	OMIM:617336
HP:0011463	Childhood onset	5295	PIK3R1	OMIM:616005
HP:0011463	Childhood onset	59335	PRDM12	OMIM:616488
HP:0011463	Childhood onset	25981	DNAH1	OMIM:617577
HP:0011463	Childhood onset	54440	SASH3	OMIM:301082
HP:0011463	Childhood onset	1180	CLCN1	OMIM:255700
HP:0011463	Childhood onset	1180	CLCN1	OMIM:160800
HP:0011463	Childhood onset	6323	SCN1A	OMIM:604403
HP:0011463	Childhood onset	8676	STX11	OMIM:603552
HP:0011463	Childhood onset	9533	POLR1C	OMIM:616494
HP:0011463	Childhood onset	79991	STN1	OMIM:617341
HP:0011463	Childhood onset	10516	FBLN5	OMIM:619764
HP:0011463	Childhood onset	10516	FBLN5	OMIM:608895
HP:0011463	Childhood onset	84062	DTNBP1	OMIM:614076
HP:0011463	Childhood onset	11261	CHP1	OMIM:618438
HP:0011463	Childhood onset	540	ATP7B	OMIM:277900
HP:0011463	Childhood onset	6925	TCF4	OMIM:610954
HP:0011463	Childhood onset	2258	FGF13	OMIM:301095
HP:0011463	Childhood onset	2556	GABRA3	OMIM:301091
HP:0011463	Childhood onset	23162	MAPK8IP3	OMIM:618443
HP:0011463	Childhood onset	3978	LIG1	OMIM:619774
HP:0011463	Childhood onset	9319	TRIP13	OMIM:617598
HP:0011463	Childhood onset	11284	PNKP	OMIM:616267
HP:0011463	Childhood onset	10463	SLC30A9	OMIM:617595
HP:0011463	Childhood onset	5213	PFKM	OMIM:232800
HP:0011463	Childhood onset	3551	IKBKB	OMIM:618204
HP:0011463	Childhood onset	51196	PLCE1	OMIM:610725
HP:0011463	Childhood onset	79628	SH3TC2	OMIM:601596
HP:0011463	Childhood onset	6330	SCN4B	OMIM:611819
HP:0011463	Childhood onset	2000	ELF4	OMIM:301074
HP:0011463	Childhood onset	148789	B3GALNT2	OMIM:615181
HP:0011463	Childhood onset	2742	GLRA2	OMIM:301076
HP:0011463	Childhood onset	27247	NFU1	OMIM:605711
HP:0011463	Childhood onset	8295	TRRAP	OMIM:618454
HP:0011463	Childhood onset	389549	FEZF1	OMIM:616030
HP:0011463	Childhood onset	3980	LIG3	OMIM:619780
HP:0011463	Childhood onset	84695	LOXL3	OMIM:619781
HP:0011463	Childhood onset	1337	COX6A1	OMIM:616039
HP:0011463	Childhood onset	29127	RACGAP1	OMIM:619789
HP:0011463	Childhood onset	8905	AP1S2	OMIM:304340
HP:0011463	Childhood onset	10456	HAX1	OMIM:610738
HP:0011463	Childhood onset	23111	SPART	OMIM:275900
HP:0011463	Childhood onset	2235	FECH	OMIM:177000
HP:0011463	Childhood onset	26277	TINF2	OMIM:268130
HP:0011463	Childhood onset	26277	TINF2	OMIM:613990
HP:0011463	Childhood onset	79879	CCDC134	OMIM:619795
HP:0011463	Childhood onset	53405	CLIC5	OMIM:616042
HP:0011463	Childhood onset	9759	HDAC4	OMIM:619797
HP:0011463	Childhood onset	127833	SYT2	OMIM:616040
HP:0011463	Childhood onset	50	ACO2	OMIM:616289
HP:0011463	Childhood onset	9785	DHX38	OMIM:618220
HP:0011463	Childhood onset	79876	UBA5	OMIM:617133
HP:0011463	Childhood onset	1756	DMD	OMIM:310200
HP:0011463	Childhood onset	203547	VMA21	OMIM:310440
HP:0011463	Childhood onset	3426	CFI	OMIM:610984
HP:0011463	Childhood onset	3426	CFI	OMIM:612923
HP:0011463	Childhood onset	4179	CD46	OMIM:612922
HP:0011463	Childhood onset	718	C3	OMIM:612925
HP:0011463	Childhood onset	718	C3	OMIM:613779
HP:0011463	Childhood onset	6548	SLC9A1	OMIM:616291
HP:0011463	Childhood onset	91942	NDUFAF2	OMIM:618233
HP:0011463	Childhood onset	23102	TBC1D2B	OMIM:619323
HP:0011463	Childhood onset	1436	CSF1R	OMIM:618476
HP:0011463	Childhood onset	3714	JAG2	OMIM:619566
HP:0011463	Childhood onset	729920	CRPPA	OMIM:616052
HP:0011463	Childhood onset	23586	RIGI	OMIM:616298
HP:0011463	Childhood onset	3745	KCNB1	OMIM:616056
HP:0011463	Childhood onset	137682	NDUFAF6	OMIM:618239
HP:0011463	Childhood onset	2710	GK	OMIM:307030
HP:0011463	Childhood onset	362	AQP5	OMIM:600231
HP:0011463	Childhood onset	25929	GEMIN5	OMIM:619333
HP:0011463	Childhood onset	23221	RHOBTB2	OMIM:618004
HP:0011463	Childhood onset	9131	AIFM1	OMIM:300614
HP:0011463	Childhood onset	9131	AIFM1	OMIM:300232
HP:0011463	Childhood onset	80224	NUBPL	OMIM:618242
HP:0011463	Childhood onset	50619	DEF6	OMIM:619573
HP:0011463	Childhood onset	165	AEBP1	OMIM:618000
HP:0011463	Childhood onset	7169	TPM2	OMIM:609285
HP:0011463	Childhood onset	23229	ARHGEF9	OMIM:300607
HP:0011463	Childhood onset	7490	WT1	OMIM:256370
HP:0011463	Childhood onset	6102	RP2	OMIM:312600
HP:0011463	Childhood onset	444	ASPH	OMIM:601552
HP:0011463	Childhood onset	80324	PUS1	OMIM:600462
HP:0011463	Childhood onset	55863	TMEM126B	OMIM:618250
HP:0011463	Childhood onset	774	CACNA1B	OMIM:618497
HP:0011463	Childhood onset	55814	BDP1	OMIM:618257
HP:0011463	Childhood onset	10297	APC2	OMIM:617169
HP:0011463	Childhood onset	4700	NDUFA6	OMIM:618253
HP:0011463	Childhood onset	2332	FMR1	OMIM:300624
HP:0011463	Childhood onset	523	ATP6V1A	OMIM:618012
HP:0011463	Childhood onset	390594	KBTBD13	OMIM:609273
HP:0011463	Childhood onset	2706	GJB2	OMIM:124500
HP:0011463	Childhood onset	1200	TPP1	OMIM:609270
HP:0011463	Childhood onset	25939	SAMHD1	OMIM:612952
HP:0011463	Childhood onset	25939	SAMHD1	OMIM:614415
HP:0011463	Childhood onset	5158	PDE6B	OMIM:613801
HP:0011463	Childhood onset	9531	BAG3	OMIM:612954
HP:0011463	Childhood onset	145226	RDH12	OMIM:612712
HP:0011463	Childhood onset	412	STS	OMIM:308100
HP:0011463	Childhood onset	28982	FLVCR1	OMIM:609033
HP:0011463	Childhood onset	339829	CCDC39	OMIM:613807
HP:0011463	Childhood onset	6338	SCNN1B	OMIM:177200
HP:0011463	Childhood onset	1300	COL10A1	OMIM:156500
HP:0011463	Childhood onset	10519	CIB1	OMIM:618267
HP:0011463	Childhood onset	6424	SFRP4	OMIM:265900
HP:0011463	Childhood onset	1277	COL1A1	OMIM:619115
HP:0011463	Childhood onset	7068	THRB	OMIM:188570
HP:0011463	Childhood onset	51095	TRNT1	OMIM:616084
HP:0011463	Childhood onset	55229	PANK4	OMIM:619593
HP:0011463	Childhood onset	35	ACADS	OMIM:201470
HP:0011463	Childhood onset	84839	RAX2	OMIM:620102
HP:0011463	Childhood onset	7168	TPM1	OMIM:611878
HP:0011463	Childhood onset	2312	FLG	OMIM:146700
HP:0011463	Childhood onset	1605	DAG1	OMIM:613818
HP:0011463	Childhood onset	8204	NRIP1	OMIM:618270
HP:0011463	Childhood onset	3000	GUCY2D	OMIM:601777
HP:0011463	Childhood onset	2916	GRM6	OMIM:257270
HP:0011463	Childhood onset	10483	SEC23B	OMIM:224100
HP:0011463	Childhood onset	128240	NAXE	OMIM:617186
HP:0011463	Childhood onset	10651	MTX2	OMIM:619127
HP:0011463	Childhood onset	6566	SLC16A1	OMIM:616095
HP:0011463	Childhood onset	1278	COL1A2	OMIM:619120
HP:0011463	Childhood onset	23287	AGTPBP1	OMIM:618276
HP:0011463	Childhood onset	8701	DNAH11	OMIM:611884
HP:0011463	Childhood onset	23031	MAST3	OMIM:620115
HP:0011463	Childhood onset	8911	CACNA1I	OMIM:620114
HP:0011463	Childhood onset	3710	ITPR3	OMIM:620111
HP:0011463	Childhood onset	801	CALM1	OMIM:614916
HP:0011463	Childhood onset	11014	KDELR2	OMIM:619131
HP:0011463	Childhood onset	8651	SOCS1	OMIM:619375
HP:0011463	Childhood onset	383	ARG1	OMIM:207800
HP:0011463	Childhood onset	9187	SLC24A1	OMIM:613830
HP:0011463	Childhood onset	84277	DNAJC30	OMIM:619382
HP:0011463	Childhood onset	57538	ALPK3	OMIM:618052
HP:0011463	Childhood onset	5257	PHKB	OMIM:261750
HP:0011463	Childhood onset	1604	CD55	OMIM:226300
HP:0011463	Childhood onset	27072	VPS41	OMIM:619389
HP:0011463	Childhood onset	7388	UQCRH	OMIM:620137
HP:0011463	Childhood onset	90523	MLIP	OMIM:620138
HP:0011463	Childhood onset	23224	SYNE2	OMIM:612999
HP:0011463	Childhood onset	9935	MAFB	OMIM:166300
HP:0011463	Childhood onset	23345	SYNE1	OMIM:612998
HP:0011463	Childhood onset	87178	PNPT1	OMIM:614934
HP:0011463	Childhood onset	50640	PNPLA8	OMIM:251950
HP:0011463	Childhood onset	6584	SLC22A5	OMIM:212140
HP:0011463	Childhood onset	1534	CYB561	OMIM:618182
HP:0011463	Childhood onset	2077	ERF	OMIM:600775
HP:0011463	Childhood onset	2131	EXT1	OMIM:133700
HP:0011463	Childhood onset	79717	PPCS	OMIM:618189
HP:0011463	Childhood onset	5376	PMP22	OMIM:118300
HP:0011463	Childhood onset	3852	KRT5	OMIM:131760
HP:0011463	Childhood onset	3852	KRT5	OMIM:131960
HP:0011463	Childhood onset	59341	TRPV4	OMIM:606071
HP:0011463	Childhood onset	59341	TRPV4	OMIM:184252
HP:0011463	Childhood onset	7109	TRAPPC10	OMIM:620027
HP:0011463	Childhood onset	5894	RAF1	OMIM:615916
HP:0011463	Childhood onset	1119	CHKA	OMIM:620023
HP:0011463	Childhood onset	3291	HSD11B2	OMIM:218030
HP:0011463	Childhood onset	5293	PIK3CD	OMIM:619281
HP:0011463	Childhood onset	6840	SVIL	OMIM:619040
HP:0011463	Childhood onset	54809	SAMD9	OMIM:619041
HP:0011463	Childhood onset	49855	SCAPER	OMIM:618195
HP:0011463	Childhood onset	221421	RSPH9	OMIM:612650
HP:0011463	Childhood onset	121391	KRT74	OMIM:613981
HP:0011463	Childhood onset	23431	AP4E1	OMIM:613744
HP:0011463	Childhood onset	23431	AP4E1	OMIM:184450
HP:0011463	Childhood onset	51324	SPG21	OMIM:248900
HP:0011463	Childhood onset	51204	TACO1	OMIM:619052
HP:0011463	Childhood onset	7827	NPHS2	OMIM:600995
HP:0011463	Childhood onset	64601	VPS16	OMIM:619291
HP:0011463	Childhood onset	1137	CHRNA4	OMIM:600513
HP:0011463	Childhood onset	9739	SETD1A	OMIM:619056
HP:0011463	Childhood onset	7084	TK2	OMIM:609560
HP:0011463	Childhood onset	340024	SLC6A19	OMIM:234500
HP:0011463	Childhood onset	686	BTD	OMIM:253260
HP:0011463	Childhood onset	7139	TNNT2	OMIM:612422
HP:0011463	Childhood onset	3911	LAMA5	OMIM:620049
HP:0011463	Childhood onset	6575	SLC20A2	OMIM:213600
HP:0011463	Childhood onset	5159	PDGFRB	OMIM:213600
HP:0011463	Childhood onset	5159	PDGFRB	OMIM:601812
HP:0011463	Childhood onset	36	ACADSB	OMIM:610006
HP:0011463	Childhood onset	7187	TRAF3	OMIM:614849
HP:0011463	Childhood onset	84334	COA8	OMIM:619061
HP:0011463	Childhood onset	55325	UFSP2	OMIM:142669
HP:0011463	Childhood onset	100303755	PET117	OMIM:619063
HP:0011463	Childhood onset	65055	REEP1	OMIM:610250
HP:0011463	Childhood onset	26090	ABHD12	OMIM:612674
HP:0011463	Childhood onset	148022	TICAM1	OMIM:614850
HP:0011463	Childhood onset	1600	DAB1	OMIM:615945
HP:0011463	Childhood onset	2301	FOXE3	OMIM:610256
HP:0011463	Childhood onset	10382	TUBB4A	OMIM:612438
HP:0011463	Childhood onset	338328	GPIHBP1	OMIM:615947
HP:0011463	Childhood onset	121512	FGD4	OMIM:609311
HP:0011463	Childhood onset	7915	ALDH5A1	OMIM:271980
HP:0011463	Childhood onset	2629	GBA1	OMIM:231000
HP:0011463	Childhood onset	23265	EXOC7	OMIM:619072
HP:0011463	Childhood onset	1576	CYP3A4	OMIM:619073
HP:0011463	Childhood onset	10585	POMT1	OMIM:609308
HP:0011463	Childhood onset	1267	CNP	OMIM:619071
HP:0011463	Childhood onset	83394	PITPNM3	OMIM:600977
HP:0011463	Childhood onset	65109	UPF3B	OMIM:300676
HP:0011463	Childhood onset	6774	STAT3	OMIM:615952
HP:0011463	Childhood onset	5828	PEX2	OMIM:614866
HP:0011463	Childhood onset	1282	COL4A1	OMIM:175780
HP:0011463	Childhood onset	171019	ADAMTS19	OMIM:620067
HP:0011463	Childhood onset	9990	SLC12A6	OMIM:620068
HP:0011463	Childhood onset	64837	KLC2	OMIM:609541
HP:0011463	Childhood onset	1188	CLCNKB	OMIM:607364
HP:0011463	Childhood onset	190	NR0B1	OMIM:300200
HP:0011463	Childhood onset	5192	PEX10	OMIM:614871
HP:0011463	Childhood onset	9409	PEX16	OMIM:614877
HP:0011463	Childhood onset	57709	SLC7A14	OMIM:615725
HP:0011463	Childhood onset	6231	RPS26	OMIM:613309
HP:0011463	Childhood onset	54862	CC2D1A	OMIM:608443
HP:0011463	Childhood onset	6742	SSBP1	OMIM:165510
HP:0011463	Childhood onset	29851	ICOS	OMIM:607594
HP:0011463	Childhood onset	11152	WDR45	OMIM:300894
HP:0011463	Childhood onset	11117	EMILIN1	OMIM:620080
HP:0011463	Childhood onset	5122	PCSK1	OMIM:600955
HP:0011463	Childhood onset	81031	SLC2A10	OMIM:208050
HP:0011463	Childhood onset	50484	RRM2B	OMIM:268315
HP:0011463	Childhood onset	9147	NEMF	OMIM:619099
HP:0011463	Childhood onset	282809	POC1B	OMIM:615973
HP:0011463	Childhood onset	6121	RPE65	OMIM:613794
HP:0011463	Childhood onset	5194	PEX13	OMIM:614885
HP:0011463	Childhood onset	5167	ENPP1	OMIM:613312
HP:0011463	Childhood onset	5167	ENPP1	OMIM:615522
HP:0011463	Childhood onset	9928	KIF14	OMIM:617914
HP:0011463	Childhood onset	2688	GH1	OMIM:173100
HP:0011463	Childhood onset	1384	CRAT	OMIM:617917
HP:0011463	Childhood onset	57704	GBA2	OMIM:614409
HP:0011463	Childhood onset	91574	MTRFR	OMIM:613559
HP:0011463	Childhood onset	55679	LIMS2	OMIM:616827
HP:0011463	Childhood onset	3954	LETM1	OMIM:620089
HP:0011463	Childhood onset	710	SERPING1	OMIM:106100
HP:0011463	Childhood onset	4313	MMP2	OMIM:259600
HP:0011463	Childhood onset	23636	NUP62	OMIM:271930
HP:0011463	Childhood onset	54413	NLGN3	OMIM:300425
HP:0011463	Childhood onset	8481	OFD1	OMIM:300424
HP:0011463	Childhood onset	51004	COQ6	OMIM:614650
HP:0011463	Childhood onset	93183	PIGM	OMIM:610293
HP:0011463	Childhood onset	2581	GALC	OMIM:245200
HP:0011463	Childhood onset	57716	PRX	OMIM:614895
HP:0011463	Childhood onset	10457	GPNMB	OMIM:617920
HP:0011463	Childhood onset	23590	PDSS1	OMIM:614651
HP:0011463	Childhood onset	3394	IRF8	OMIM:614893
HP:0011463	Childhood onset	22858	CILK1	OMIM:617924
HP:0011463	Childhood onset	6307	MSMO1	OMIM:616834
HP:0011463	Childhood onset	1261	CNGA3	OMIM:216900
HP:0011463	Childhood onset	137492	VPS37A	OMIM:614898
HP:0011463	Childhood onset	57094	CPA6	OMIM:614417
HP:0011463	Childhood onset	865	CBFB	OMIM:620099
HP:0011463	Childhood onset	8729	GBF1	OMIM:606483
HP:0011463	Childhood onset	54808	DYM	OMIM:607326
HP:0011463	Childhood onset	147495	APCDD1	OMIM:605389
HP:0011463	Childhood onset	201294	UNC13D	OMIM:608898
HP:0011463	Childhood onset	1121	CHM	OMIM:303100
HP:0011463	Childhood onset	7080	NKX2-1	OMIM:118700
HP:0011463	Childhood onset	92935	MARS2	OMIM:611390
HP:0011463	Childhood onset	2982	GUCY1A1	OMIM:615750
HP:0011463	Childhood onset	631	BFSP1	OMIM:611391
HP:0011463	Childhood onset	1776	DNASE1L3	OMIM:614420
HP:0011463	Childhood onset	763	CA5A	OMIM:615751
HP:0011463	Childhood onset	6328	SCN3A	OMIM:617935
HP:0011463	Childhood onset	6328	SCN3A	OMIM:617938
HP:0011463	Childhood onset	3932	LCK	OMIM:615758
HP:0011463	Childhood onset	4803	NGF	OMIM:608654
HP:0011463	Childhood onset	8626	TP63	OMIM:604292
HP:0011463	Childhood onset	411	ARSB	OMIM:253200
HP:0011463	Childhood onset	54768	HYDIN	OMIM:608647
HP:0011463	Childhood onset	55187	VPS13D	OMIM:607317
HP:0011463	Childhood onset	57526	PCDH19	OMIM:300088
HP:0011463	Childhood onset	50939	IMPG2	OMIM:613581
HP:0011463	Childhood onset	5148	PDE6G	OMIM:613582
HP:0011463	Childhood onset	6813	STXBP2	OMIM:613101
HP:0011463	Childhood onset	79631	EFL1	OMIM:617941
HP:0011463	Childhood onset	56997	COQ8A	OMIM:612016
HP:0011463	Childhood onset	10758	TRAF3IP2	OMIM:615527
HP:0011463	Childhood onset	4297	KMT2A	OMIM:605130
HP:0011463	Childhood onset	64135	IFIH1	OMIM:182250
HP:0011463	Childhood onset	4763	NF1	OMIM:162200
HP:0011463	Childhood onset	8671	SLC4A4	OMIM:604278
HP:0011463	Childhood onset	3643	INSR	OMIM:609968
HP:0011463	Childhood onset	79572	ATP13A3	OMIM:265400
HP:0011463	Childhood onset	9512	PMPCB	OMIM:617954
HP:0011463	Childhood onset	2072	ERCC4	OMIM:278760
HP:0011463	Childhood onset	5530	PPP3CA	OMIM:617711
HP:0011463	Childhood onset	6097	RORC	OMIM:616622
HP:0011463	Childhood onset	2058	EPRS1	OMIM:617951
HP:0011463	Childhood onset	102	ADAM10	OMIM:615537
HP:0011463	Childhood onset	26525	IL36RN	OMIM:614204
HP:0011463	Childhood onset	7045	TGFBI	OMIM:607541
HP:0011463	Childhood onset	2232	FDXR	OMIM:617717
HP:0011463	Childhood onset	1292	COL6A2	OMIM:255600
HP:0011463	Childhood onset	9420	CYP7B1	OMIM:270800
HP:0011463	Childhood onset	23676	SMPX	OMIM:300066
HP:0011463	Childhood onset	163183	SYNE4	OMIM:615540
HP:0011463	Childhood onset	7289	TULP3	OMIM:619902
HP:0011463	Childhood onset	10320	IKZF1	OMIM:616873
HP:0011463	Childhood onset	175	AGA	OMIM:208400
HP:0011463	Childhood onset	6773	STAT2	OMIM:616636
HP:0011463	Childhood onset	27010	TPK1	OMIM:614458
HP:0011463	Childhood onset	93986	FOXP2	OMIM:602081
HP:0011463	Childhood onset	7074	TIAM1	OMIM:619908
HP:0011463	Childhood onset	51002	TPRKB	OMIM:617731
HP:0011463	Childhood onset	255928	SYT14	OMIM:614229
HP:0011463	Childhood onset	490	ATP2B1	OMIM:619910
HP:0011463	Childhood onset	5336	PLCG2	OMIM:614468
HP:0011463	Childhood onset	4929	NR4A2	OMIM:619911
HP:0011463	Childhood onset	128178	EDARADD	OMIM:224900
HP:0011463	Childhood onset	10913	EDAR	OMIM:224900
HP:0011463	Childhood onset	629	CFB	OMIM:615561
HP:0011463	Childhood onset	1314	COPA	OMIM:616414
HP:0011463	Childhood onset	6569	SLC34A1	OMIM:613388
HP:0011463	Childhood onset	54676	GTPBP2	OMIM:617988
HP:0011463	Childhood onset	3094	HINT1	OMIM:137200
HP:0011463	Childhood onset	57502	NLGN4X	OMIM:300495
HP:0011463	Childhood onset	3920	LAMP2	OMIM:300257
HP:0011463	Childhood onset	6529	SLC6A1	OMIM:616421
HP:0011463	Childhood onset	79934	COQ8B	OMIM:615573
HP:0011463	Childhood onset	2218	FKTN	OMIM:613152
HP:0011463	Childhood onset	5879	RAC1	OMIM:617751
HP:0011463	Childhood onset	3889	KRT83	OMIM:617756
HP:0011463	Childhood onset	4791	NFKB2	OMIM:615577
HP:0011463	Childhood onset	8575	PRKRA	OMIM:612067
HP:0011463	Childhood onset	29954	POMT2	OMIM:613158
HP:0011463	Childhood onset	10939	AFG3L2	OMIM:614487
HP:0011463	Childhood onset	8815	BANF1	OMIM:614008
HP:0011463	Childhood onset	5718	PSMD12	OMIM:617516
HP:0011463	Childhood onset	51422	PRKAG2	OMIM:194200
HP:0011463	Childhood onset	7508	XPC	OMIM:278720
HP:0011463	Childhood onset	6223	RPS19	OMIM:105650
HP:0011463	Childhood onset	2639	GCDH	OMIM:231670
HP:0011463	Childhood onset	846	CASR	OMIM:601198
HP:0011463	Childhood onset	6103	RPGR	OMIM:300029
HP:0011463	Childhood onset	857	CAV1	OMIM:615343
HP:0011463	Childhood onset	22978	NT5C2	OMIM:613162
HP:0011463	Childhood onset	51776	MAP3K20	OMIM:617760
HP:0011463	Childhood onset	10369	CACNG2	OMIM:614256
HP:0011463	Childhood onset	5297	PI4KA	OMIM:619708
HP:0011463	Childhood onset	285489	DOK7	OMIM:254300
HP:0011463	Childhood onset	2582	GALE	OMIM:230350
HP:0003587	Insidious onset	9897	WASHC5	OMIM:603563
HP:0003587	Insidious onset	123606	NIPA1	OMIM:600363
HP:0003587	Insidious onset	773	CACNA1A	OMIM:183086
HP:0003587	Insidious onset	4359	MPZ	OMIM:118200
HP:0003587	Insidious onset	1981	EIF4G1	OMIM:614251
HP:0003587	Insidious onset	5376	PMP22	OMIM:118220
HP:0003587	Insidious onset	6683	SPAST	OMIM:182601
HP:0003587	Insidious onset	2747	GLUD2	OMIM:168600
HP:0003587	Insidious onset	126	ADH1C	OMIM:168600
HP:0003587	Insidious onset	4137	MAPT	OMIM:168600
HP:0003587	Insidious onset	2629	GBA1	OMIM:168600
HP:0003587	Insidious onset	4929	NR4A2	OMIM:168600
HP:0003587	Insidious onset	6908	TBP	OMIM:168600
HP:0003587	Insidious onset	4576	MT-TT	OMIM:168600
HP:0003587	Insidious onset	9627	SNCAIP	OMIM:168600
HP:0003587	Insidious onset	6311	ATXN2	OMIM:168600
HP:0003587	Insidious onset	6315	ATXN8OS	OMIM:168600
HP:0003587	Insidious onset	51062	ATL1	OMIM:182600
HP:0003587	Insidious onset	6622	SNCA	OMIM:168601
HP:0003587	Insidious onset	4976	OPA1	OMIM:165500
HP:0003674	Onset	3651	PDX1	OMIM:260370
HP:0003674	Onset	3858	KRT10	OMIM:607602
HP:0003674	Onset	55703	POLR3B	OMIM:614381
HP:0003674	Onset	55703	POLR3B	OMIM:607694
HP:0003674	Onset	23019	CNOT1	OMIM:618500
HP:0003674	Onset	776	CACNA1D	OMIM:615474
HP:0003674	Onset	776	CACNA1D	OMIM:614896
HP:0003674	Onset	2304	FOXE1	OMIM:241850
HP:0003674	Onset	5913	RAPSN	OMIM:616326
HP:0003674	Onset	79827	CLMP	OMIM:615237
HP:0003674	Onset	8573	CASK	OMIM:300908
HP:0003674	Onset	2539	G6PD	OMIM:300908
HP:0003674	Onset	7291	TWIST1	OMIM:123100
HP:0003674	Onset	7291	TWIST1	OMIM:617746
HP:0003674	Onset	1145	CHRNE	OMIM:616324
HP:0003674	Onset	1145	CHRNE	OMIM:605809
HP:0003674	Onset	7299	TYR	OMIM:203100
HP:0003674	Onset	121391	KRT74	OMIM:194300
HP:0003674	Onset	121391	KRT74	OMIM:614929
HP:0003674	Onset	4897	NRCAM	OMIM:619833
HP:0003674	Onset	1134	CHRNA1	OMIM:608930
HP:0003674	Onset	91147	TMEM67	OMIM:602152
HP:0003674	Onset	91147	TMEM67	OMIM:216360
HP:0003674	Onset	10021	HCN4	OMIM:163800
HP:0003674	Onset	23498	HAAO	OMIM:617660
HP:0003674	Onset	9578	CDC42BPB	OMIM:619841
HP:0003674	Onset	1855	DVL1	OMIM:616331
HP:0003674	Onset	1855	DVL1	OMIM:180700
HP:0003674	Onset	8942	KYNU	OMIM:617661
HP:0003674	Onset	283489	CHAMP1	OMIM:616579
HP:0003674	Onset	1841	DTYMK	OMIM:619847
HP:0003674	Onset	478	ATP1A3	OMIM:619606
HP:0003674	Onset	2137	EXTL3	OMIM:617425
HP:0003674	Onset	166378	AFG2A	OMIM:616577
HP:0003674	Onset	27229	TUBGCP4	OMIM:616335
HP:0003674	Onset	341640	FREM2	OMIM:617666
HP:0003674	Onset	84936	ZFYVE19	OMIM:619849
HP:0003674	Onset	84466	MEGF10	OMIM:614399
HP:0003674	Onset	25790	CFAP45	OMIM:619608
HP:0003674	Onset	1288	COL4A6	OMIM:300914
HP:0003674	Onset	3149	HMGB3	OMIM:300915
HP:0003674	Onset	318	NUDT2	OMIM:619844
HP:0003674	Onset	84197	POMK	OMIM:615249
HP:0003674	Onset	16	AARS1	OMIM:616339
HP:0003674	Onset	57545	CC2D2A	OMIM:619845
HP:0003674	Onset	57545	CC2D2A	OMIM:619111
HP:0003674	Onset	51112	TRAPPC12	OMIM:617669
HP:0003674	Onset	3508	IGHMBP2	OMIM:604320
HP:0003674	Onset	57082	KNL1	OMIM:604321
HP:0003674	Onset	79693	YRDC	OMIM:619609
HP:0003674	Onset	2188	FANCF	OMIM:603467
HP:0003674	Onset	284403	WDR62	OMIM:604317
HP:0003674	Onset	90	ACVR1	OMIM:135100
HP:0003674	Onset	4646	MYO6	OMIM:607821
HP:0003674	Onset	9071	CLDN10	OMIM:617671
HP:0003674	Onset	1020	CDK5	OMIM:616342
HP:0003674	Onset	1777	DNASE2	OMIM:619858
HP:0003674	Onset	54567	DLL4	OMIM:616589
HP:0003674	Onset	64359	NXN	OMIM:618529
HP:0003674	Onset	7436	VLDLR	OMIM:224050
HP:0003674	Onset	84100	ARL6	OMIM:209900
HP:0003674	Onset	84100	ARL6	OMIM:600151
HP:0003674	Onset	79140	CCDC28B	OMIM:209900
HP:0003674	Onset	582	BBS1	OMIM:209900
HP:0003674	Onset	79029	AFG2B	OMIM:619615
HP:0003674	Onset	1528	CYB5A	OMIM:250790
HP:0003674	Onset	25778	DSTYK	OMIM:610805
HP:0003674	Onset	26154	ABCA12	OMIM:601277
HP:0003674	Onset	26154	ABCA12	OMIM:242500
HP:0003674	Onset	4620	MYH2	OMIM:605637
HP:0003674	Onset	9401	RECQL4	OMIM:218600
HP:0003674	Onset	857	CAV1	OMIM:606721
HP:0003674	Onset	10484	SEC23A	OMIM:607812
HP:0003674	Onset	6926	TBX3	OMIM:181450
HP:0003674	Onset	204219	CERS3	OMIM:615023
HP:0003674	Onset	285848	PNPLA1	OMIM:615024
HP:0003674	Onset	23327	NEDD4L	OMIM:617201
HP:0003674	Onset	7092	TLL1	OMIM:613087
HP:0003674	Onset	8550	MAPKAPK5	OMIM:619869
HP:0003674	Onset	168507	PKD1L1	OMIM:617205
HP:0003674	Onset	51761	ATP8A2	OMIM:615268
HP:0003674	Onset	1474	CST6	OMIM:618535
HP:0003674	Onset	6905	TBCE	OMIM:617207
HP:0003674	Onset	6905	TBCE	OMIM:241410
HP:0003674	Onset	5373	PMM2	OMIM:212065
HP:0003674	Onset	63901	FAM111A	OMIM:602361
HP:0003674	Onset	54345	SOX18	OMIM:137940
HP:0003674	Onset	126410	CYP4F22	OMIM:604777
HP:0003674	Onset	5337	PLD1	OMIM:212093
HP:0003674	Onset	5317	PKP1	OMIM:604536
HP:0003674	Onset	57822	GRHL3	OMIM:606713
HP:0003674	Onset	59341	TRPV4	OMIM:600175
HP:0003674	Onset	59341	TRPV4	OMIM:606071
HP:0003674	Onset	1187	CLCNKA	OMIM:613090
HP:0003674	Onset	1188	CLCNKB	OMIM:613090
HP:0003674	Onset	1188	CLCNKB	OMIM:607364
HP:0003674	Onset	2072	ERCC4	OMIM:615272
HP:0003674	Onset	113612	CYP2U1	OMIM:615030
HP:0003674	Onset	1186	CLCN7	OMIM:618541
HP:0003674	Onset	1770	DNAH9	OMIM:618300
HP:0003674	Onset	4284	MIP	OMIM:615274
HP:0003674	Onset	23126	POGZ	OMIM:616364
HP:0003674	Onset	55773	TBC1D23	OMIM:617695
HP:0003674	Onset	5314	PKHD1	OMIM:263200
HP:0003674	Onset	8558	CDK10	OMIM:617694
HP:0003674	Onset	808	CALM3	OMIM:618782
HP:0003674	Onset	57167	SALL4	OMIM:147750
HP:0003674	Onset	57167	SALL4	OMIM:607323
HP:0003674	Onset	55280	CWF19L1	OMIM:616127
HP:0003674	Onset	27125	AFF4	OMIM:616368
HP:0003674	Onset	1909	EDNRA	OMIM:616367
HP:0003674	Onset	79770	TXNDC15	OMIM:619879
HP:0003674	Onset	5727	PTCH1	OMIM:610828
HP:0003674	Onset	10329	RXYLT1	OMIM:615041
HP:0003674	Onset	8818	DPM2	OMIM:615042
HP:0003674	Onset	30813	VSX1	OMIM:614195
HP:0003674	Onset	56098	PCDHGC4	OMIM:619880
HP:0003674	Onset	641	BLM	OMIM:210900
HP:0003674	Onset	2263	FGFR2	OMIM:123790
HP:0003674	Onset	2263	FGFR2	OMIM:614592
HP:0003674	Onset	2263	FGFR2	OMIM:101200
HP:0003674	Onset	2674	GFRA1	OMIM:619887
HP:0003674	Onset	9772	TMEM94	OMIM:618316
HP:0003674	Onset	79971	WLS	OMIM:619648
HP:0003674	Onset	57688	ZSWIM6	OMIM:603671
HP:0003674	Onset	1910	EDNRB	OMIM:600155
HP:0003674	Onset	1910	EDNRB	OMIM:600501
HP:0003674	Onset	3861	KRT14	OMIM:601001
HP:0003674	Onset	3861	KRT14	OMIM:131760
HP:0003674	Onset	442721	LMOD2	OMIM:619897
HP:0003674	Onset	3798	KIF5A	OMIM:617235
HP:0003674	Onset	23483	TGDS	OMIM:616145
HP:0003674	Onset	6603	SMARCD2	OMIM:617475
HP:0003674	Onset	285203	EOGT	OMIM:615297
HP:0003674	Onset	125988	MICOS13	OMIM:618329
HP:0003674	Onset	64919	BCL11B	OMIM:617237
HP:0003674	Onset	4087	SMAD2	OMIM:619657
HP:0003674	Onset	6533	SLC6A6	OMIM:145350
HP:0003674	Onset	2744	GLS	OMIM:618328
HP:0003674	Onset	3339	HSPG2	OMIM:255800
HP:0003674	Onset	3339	HSPG2	OMIM:224410
HP:0003674	Onset	79648	MCPH1	OMIM:251200
HP:0003674	Onset	81839	VANGL1	OMIM:600145
HP:0003674	Onset	2071	ERCC3	OMIM:616390
HP:0003674	Onset	85300	ATCAY	OMIM:601238
HP:0003674	Onset	404672	GTF2H5	OMIM:616395
HP:0003674	Onset	1917	EEF1A2	OMIM:616393
HP:0003674	Onset	9742	IFT140	OMIM:266920
HP:0003674	Onset	205327	C2orf69	OMIM:619423
HP:0003674	Onset	58497	PRUNE1	OMIM:617481
HP:0003674	Onset	54101	RIPK4	OMIM:263650
HP:0003674	Onset	9427	ECEL1	OMIM:615065
HP:0003674	Onset	5888	RAD51	OMIM:617244
HP:0003674	Onset	22930	RAB3GAP1	OMIM:619420
HP:0003674	Onset	4286	MITF	OMIM:103500
HP:0003674	Onset	4286	MITF	OMIM:617306
HP:0003674	Onset	4286	MITF	OMIM:193510
HP:0003674	Onset	7516	XRCC2	OMIM:617247
HP:0003674	Onset	64132	XYLT2	OMIM:605822
HP:0003674	Onset	2074	ERCC6	OMIM:133540
HP:0003674	Onset	2074	ERCC6	OMIM:214150
HP:0003674	Onset	2243	FGA	OMIM:202400
HP:0003674	Onset	2244	FGB	OMIM:202400
HP:0003674	Onset	2266	FGG	OMIM:202400
HP:0003674	Onset	6134	RPL10	OMIM:300998
HP:0003674	Onset	8925	HERC1	OMIM:617011
HP:0003674	Onset	1281	COL3A1	OMIM:618343
HP:0003674	Onset	10785	WDR4	OMIM:618346
HP:0003674	Onset	10046	MAMLD1	OMIM:300758
HP:0003674	Onset	72	ACTG2	OMIM:619431
HP:0003674	Onset	56203	LMOD3	OMIM:616165
HP:0003674	Onset	79912	PYROXD1	OMIM:617258
HP:0003674	Onset	1798	DPAGT1	OMIM:608093
HP:0003674	Onset	5309	PITX3	OMIM:610623
HP:0003674	Onset	4838	NODAL	OMIM:270100
HP:0003674	Onset	7681	MKRN3	OMIM:176270
HP:0003674	Onset	3653	IPW	OMIM:176270
HP:0003674	Onset	54551	MAGEL2	OMIM:176270
HP:0003674	Onset	54551	MAGEL2	OMIM:615547
HP:0003674	Onset	791114	PWRN1	OMIM:176270
HP:0003674	Onset	100033413	SNORD116-1	OMIM:176270
HP:0003674	Onset	8924	HERC2	OMIM:176270
HP:0003674	Onset	145624	PWAR1	OMIM:176270
HP:0003674	Onset	23742	NPAP1	OMIM:176270
HP:0003674	Onset	338433	SNORD115-1	OMIM:176270
HP:0003674	Onset	56945	MRPS22	OMIM:611719
HP:0003674	Onset	2706	GJB2	OMIM:602540
HP:0003674	Onset	2706	GJB2	OMIM:149200
HP:0003674	Onset	5575	PRKAR1B	OMIM:619680
HP:0003674	Onset	10733	PLK4	OMIM:616171
HP:0003674	Onset	7707	ZNF148	OMIM:617260
HP:0003674	Onset	6299	SALL1	OMIM:107480
HP:0003674	Onset	3728	JUP	OMIM:601214
HP:0003674	Onset	6567	SLC16A2	OMIM:300523
HP:0003674	Onset	1294	COL7A1	OMIM:226600
HP:0003674	Onset	1294	COL7A1	OMIM:132000
HP:0003674	Onset	1294	COL7A1	OMIM:131750
HP:0003674	Onset	4312	MMP1	OMIM:226600
HP:0003674	Onset	23395	LARS2	OMIM:617021
HP:0003674	Onset	283989	TSEN54	OMIM:225753
HP:0003674	Onset	283989	TSEN54	OMIM:610204
HP:0003674	Onset	283989	TSEN54	OMIM:277470
HP:0003674	Onset	116461	TSEN15	OMIM:617026
HP:0003674	Onset	55262	TRAPPC14	OMIM:618351
HP:0003674	Onset	114803	MYSM1	OMIM:618116
HP:0003674	Onset	5660	PSAP	OMIM:611721
HP:0003674	Onset	4041	LRP5	OMIM:259770
HP:0003674	Onset	29954	POMT2	OMIM:236670
HP:0003674	Onset	29954	POMT2	OMIM:613150
HP:0003674	Onset	29954	POMT2	OMIM:613156
HP:0003674	Onset	9215	LARGE1	OMIM:236670
HP:0003674	Onset	9215	LARGE1	OMIM:613154
HP:0003674	Onset	79147	FKRP	OMIM:236670
HP:0003674	Onset	79147	FKRP	OMIM:606612
HP:0003674	Onset	79147	FKRP	OMIM:613153
HP:0003674	Onset	10585	POMT1	OMIM:236670
HP:0003674	Onset	2218	FKTN	OMIM:236670
HP:0003674	Onset	56975	FAM20C	OMIM:259775
HP:0003674	Onset	57190	SELENON	OMIM:602771
HP:0003674	Onset	55250	ELP2	OMIM:617270
HP:0003674	Onset	2735	GLI1	OMIM:618123
HP:0003674	Onset	8888	MCM3AP	OMIM:618124
HP:0003674	Onset	63925	ZNF335	OMIM:615095
HP:0003674	Onset	57007	ACKR3	OMIM:619215
HP:0003674	Onset	4998	ORC1	OMIM:224690
HP:0003674	Onset	1621	DBH	OMIM:223360
HP:0003674	Onset	4052	LTBP1	OMIM:619451
HP:0003674	Onset	7021	TFAP2B	OMIM:617035
HP:0003674	Onset	81788	NUAK2	OMIM:619452
HP:0003674	Onset	27341	RRP7A	OMIM:619453
HP:0003674	Onset	8120	AP3B2	OMIM:617276
HP:0003674	Onset	2019	EN1	OMIM:619218
HP:0003674	Onset	1009	CDH11	OMIM:211380
HP:0003674	Onset	1009	CDH11	OMIM:619736
HP:0003674	Onset	4627	MYH9	OMIM:155100
HP:0003674	Onset	7401	CLRN1	OMIM:276902
HP:0003674	Onset	7809	BSND	OMIM:602522
HP:0003674	Onset	1277	COL1A1	OMIM:130060
HP:0003674	Onset	7086	TKT	OMIM:617044
HP:0003674	Onset	6390	SDHB	OMIM:619224
HP:0003674	Onset	2009	EML1	OMIM:600348
HP:0003674	Onset	11342	RNF13	OMIM:618379
HP:0003674	Onset	127833	SYT2	OMIM:619461
HP:0003674	Onset	84705	GTPBP3	OMIM:616198
HP:0003674	Onset	4613	MYCN	OMIM:164280
HP:0003674	Onset	9971	NR1H4	OMIM:617049
HP:0003674	Onset	208	AKT2	OMIM:240900
HP:0003674	Onset	220296	HEPACAM	OMIM:613925
HP:0003674	Onset	220296	HEPACAM	OMIM:613926
HP:0003674	Onset	50801	KCNK4	OMIM:618381
HP:0003674	Onset	26160	IFT172	OMIM:619471
HP:0003674	Onset	4158	MC2R	OMIM:202200
HP:0003674	Onset	65250	CPLANE1	OMIM:277170
HP:0003674	Onset	8991	SELENBP1	OMIM:618148
HP:0003674	Onset	54800	KLHL24	OMIM:617294
HP:0003674	Onset	3914	LAMB3	OMIM:226650
HP:0003674	Onset	3914	LAMB3	OMIM:226700
HP:0003674	Onset	10526	IPO8	OMIM:619472
HP:0003674	Onset	348180	CTU2	OMIM:618142
HP:0003674	Onset	54539	NDUFB11	OMIM:300952
HP:0003674	Onset	54539	NDUFB11	OMIM:301021
HP:0003674	Onset	54539	NDUFB11	OMIM:309801
HP:0003674	Onset	7737	RNF113A	OMIM:300953
HP:0003674	Onset	92002	CCNQ	OMIM:300707
HP:0003674	Onset	79574	EPS8L3	OMIM:612841
HP:0003674	Onset	84196	USP48	OMIM:620227
HP:0003674	Onset	6608	SMO	OMIM:241800
HP:0003674	Onset	6608	SMO	OMIM:601707
HP:0003674	Onset	10413	YAP1	OMIM:120433
HP:0003674	Onset	2006	ELN	OMIM:123700
HP:0003674	Onset	3248	HPGD	OMIM:259100
HP:0003674	Onset	3248	HPGD	OMIM:119900
HP:0003674	Onset	63895	PIEZO2	OMIM:108145
HP:0003674	Onset	63895	PIEZO2	OMIM:248700
HP:0003674	Onset	1412	CRYBA2	OMIM:115900
HP:0003674	Onset	25839	COG4	OMIM:618150
HP:0003674	Onset	4927	NUP88	OMIM:618393
HP:0003674	Onset	51360	MBTPS2	OMIM:308205
HP:0003674	Onset	3636	INPPL1	OMIM:258480
HP:0003674	Onset	9325	TRIP4	OMIM:617066
HP:0003674	Onset	9325	TRIP4	OMIM:616866
HP:0003674	Onset	6872	TAF1	OMIM:300966
HP:0003674	Onset	60558	GUF1	OMIM:617065
HP:0003674	Onset	2324	FLT4	OMIM:153100
HP:0003674	Onset	158326	FREM1	OMIM:248450
HP:0003674	Onset	8318	CDC45	OMIM:617063
HP:0003674	Onset	55640	FLVCR2	OMIM:225790
HP:0003674	Onset	23233	EXOC6B	OMIM:618395
HP:0003674	Onset	9508	ADAMTS3	OMIM:618154
HP:0003674	Onset	91875	TTC5	OMIM:619244
HP:0003674	Onset	84340	GFM2	OMIM:618397
HP:0003674	Onset	4617	MYF5	OMIM:618155
HP:0003674	Onset	134353	LSM11	OMIM:619486
HP:0003674	Onset	100127206	MINAR2	OMIM:620238
HP:0003674	Onset	57038	RARS2	OMIM:611523
HP:0003674	Onset	50485	SMARCAL1	OMIM:242900
HP:0003674	Onset	7341	SUMO1	OMIM:613705
HP:0003674	Onset	9573	GDF3	OMIM:613704
HP:0003674	Onset	10551	AGR2	OMIM:620233
HP:0003674	Onset	60386	SLC25A19	OMIM:607196
HP:0003674	Onset	3766	KCNJ10	OMIM:600791
HP:0003674	Onset	2299	FOXI1	OMIM:600791
HP:0003674	Onset	5172	SLC26A4	OMIM:600791
HP:0003674	Onset	23387	SIK3	OMIM:618162
HP:0003674	Onset	6748	SSR4	OMIM:300934
HP:0003674	Onset	51168	MYO15A	OMIM:600316
HP:0003674	Onset	84231	TRAF7	OMIM:618164
HP:0003674	Onset	5339	PLEC	OMIM:226670
HP:0003674	Onset	5339	PLEC	OMIM:226730
HP:0003674	Onset	26276	VPS33B	OMIM:620009
HP:0003674	Onset	26276	VPS33B	OMIM:208085
HP:0003674	Onset	1908	EDN3	OMIM:613712
HP:0003674	Onset	4094	MAF	OMIM:610202
HP:0003674	Onset	2668	GDNF	OMIM:613711
HP:0003674	Onset	1073	CFL2	OMIM:610687
HP:0003674	Onset	3110	MNX1	OMIM:176450
HP:0003674	Onset	253827	MSRB3	OMIM:613718
HP:0003674	Onset	6599	SMARCC1	OMIM:620241
HP:0003674	Onset	51082	POLR1D	OMIM:613717
HP:0003674	Onset	10079	ATP9A	OMIM:620242
HP:0003674	Onset	7474	WNT5A	OMIM:180700
HP:0003674	Onset	54658	UGT1A1	OMIM:218800
HP:0003674	Onset	2296	FOXC1	OMIM:601631
HP:0003674	Onset	116150	NUS1	OMIM:617082
HP:0003674	Onset	1893	ECM1	OMIM:247100
HP:0003674	Onset	84842	HPDL	OMIM:619026
HP:0003674	Onset	79023	NUP37	OMIM:618179
HP:0003674	Onset	8516	ITGA8	OMIM:191830
HP:0003674	Onset	90121	TSR2	OMIM:300946
HP:0003674	Onset	51473	DCDC2	OMIM:610212
HP:0003674	Onset	4233	MET	OMIM:620019
HP:0003674	Onset	4233	MET	OMIM:607278
HP:0003674	Onset	1414	CRYBB1	OMIM:611544
HP:0003674	Onset	26123	TCTN3	OMIM:614815
HP:0003674	Onset	27445	PCLO	OMIM:608027
HP:0003674	Onset	29969	MDFIC	OMIM:620014
HP:0003674	Onset	3516	RBPJ	OMIM:614814
HP:0003674	Onset	80036	TRPM3	OMIM:620253
HP:0003674	Onset	65055	REEP1	OMIM:620011
HP:0003674	Onset	60529	ALX4	OMIM:609597
HP:0003674	Onset	60529	ALX4	OMIM:613451
HP:0003674	Onset	8085	KMT2D	OMIM:147920
HP:0003674	Onset	7403	KDM6A	OMIM:147920
HP:0003674	Onset	8323	FZD6	OMIM:161050
HP:0003674	Onset	5393	EXOSC9	OMIM:618065
HP:0003674	Onset	26128	KIFBP	OMIM:609460
HP:0003674	Onset	673	BRAF	OMIM:115150
HP:0003674	Onset	25821	MTO1	OMIM:614702
HP:0003674	Onset	57539	WDR35	OMIM:613610
HP:0003674	Onset	283310	OTOGL	OMIM:614944
HP:0003674	Onset	3848	KRT1	OMIM:620148
HP:0003674	Onset	3848	KRT1	OMIM:146590
HP:0003674	Onset	3848	KRT1	OMIM:600962
HP:0003674	Onset	340990	OTOG	OMIM:614945
HP:0003674	Onset	1411	CRYBA1	OMIM:600881
HP:0003674	Onset	57222	ERGIC1	OMIM:208100
HP:0003674	Onset	89910	UBE3B	OMIM:244450
HP:0003674	Onset	1638	DCT	OMIM:619165
HP:0003674	Onset	3664	IRF6	OMIM:119500
HP:0003674	Onset	3664	IRF6	OMIM:119300
HP:0003674	Onset	6662	SOX9	OMIM:114290
HP:0003674	Onset	26153	KIF26A	OMIM:620156
HP:0003674	Onset	271	AMPD2	OMIM:615809
HP:0003674	Onset	9382	COG1	OMIM:611209
HP:0003674	Onset	1763	DNA2	OMIM:615807
HP:0003674	Onset	7125	TNNC2	OMIM:620161
HP:0003674	Onset	388698	FLG2	OMIM:618084
HP:0003674	Onset	9241	NOG	OMIM:186570
HP:0003674	Onset	146862	UNC45B	OMIM:619178
HP:0003674	Onset	5119	CHMP1A	OMIM:614961
HP:0003674	Onset	84876	ORAI1	OMIM:612782
HP:0003674	Onset	220074	LRTOMT	OMIM:611451
HP:0003674	Onset	50814	NSDHL	OMIM:308050
HP:0003674	Onset	6261	RYR1	OMIM:255320
HP:0003674	Onset	1889	ECE1	OMIM:613870
HP:0003674	Onset	1801	DPH1	OMIM:616901
HP:0003674	Onset	93627	TBCK	OMIM:616900
HP:0003674	Onset	114034	TOE1	OMIM:614969
HP:0003674	Onset	1509	CTSD	OMIM:610127
HP:0003674	Onset	80254	CEP63	OMIM:614728
HP:0003674	Onset	9570	GOSR2	OMIM:620166
HP:0003674	Onset	80326	WNT10A	OMIM:257980
HP:0003674	Onset	51057	WDPCP	OMIM:217085
HP:0003674	Onset	10555	AGPAT2	OMIM:608594
HP:0003674	Onset	5313	PKLR	OMIM:266200
HP:0003674	Onset	1690	COCH	OMIM:618094
HP:0003674	Onset	9750	RIPOR2	OMIM:607017
HP:0003674	Onset	9750	RIPOR2	OMIM:616515
HP:0003674	Onset	84823	LMNB2	OMIM:619180
HP:0003674	Onset	6885	MAP3K7	OMIM:157800
HP:0003674	Onset	55148	UBR7	OMIM:619189
HP:0003674	Onset	7170	TPM3	OMIM:255310
HP:0003674	Onset	79583	TMEM231	OMIM:614970
HP:0003674	Onset	79583	TMEM231	OMIM:615397
HP:0003674	Onset	23545	ATP6V0A2	OMIM:278250
HP:0003674	Onset	1954	MEGF8	OMIM:614976
HP:0003674	Onset	23314	SATB2	OMIM:612313
HP:0003674	Onset	79867	TCTN2	OMIM:613885
HP:0003674	Onset	79867	TCTN2	OMIM:616654
HP:0003674	Onset	55636	CHD7	OMIM:214800
HP:0003674	Onset	3070	HELLS	OMIM:616911
HP:0003674	Onset	83879	CDCA7	OMIM:616910
HP:0003674	Onset	25942	SIN3A	OMIM:613406
HP:0003674	Onset	79053	ALG8	OMIM:608104
HP:0003674	Onset	27245	AHDC1	OMIM:615829
HP:0003674	Onset	6234	RPS28	OMIM:606164
HP:0003674	Onset	699	BUB1	OMIM:620183
HP:0003674	Onset	9653	HS2ST1	OMIM:619194
HP:0003674	Onset	57217	TTC7A	OMIM:243150
HP:0003674	Onset	1280	COL2A1	OMIM:151210
HP:0003674	Onset	1280	COL2A1	OMIM:156550
HP:0003674	Onset	1280	COL2A1	OMIM:271700
HP:0003674	Onset	4593	MUSK	OMIM:208150
HP:0003674	Onset	23118	TAB2	OMIM:614980
HP:0003674	Onset	56006	SMG9	OMIM:616920
HP:0003674	Onset	56006	SMG9	OMIM:619995
HP:0003674	Onset	51660	MPC1	OMIM:614741
HP:0003674	Onset	3211	HOXB1	OMIM:614744
HP:0003674	Onset	25977	NECAP1	OMIM:615833
HP:0003674	Onset	84720	PIGO	OMIM:614749
HP:0003674	Onset	54499	TMCO1	OMIM:213980
HP:0003674	Onset	11128	POLR3A	OMIM:264090
HP:0003674	Onset	11128	POLR3A	OMIM:607694
HP:0003674	Onset	3675	ITGA3	OMIM:614748
HP:0003674	Onset	10907	TXNL4A	OMIM:608572
HP:0003674	Onset	2255	FGF10	OMIM:620193
HP:0003674	Onset	4036	LRP2	OMIM:222448
HP:0003674	Onset	492	ATP2B3	OMIM:302500
HP:0003674	Onset	8050	PDHX	OMIM:245349
HP:0003674	Onset	1785	DNM2	OMIM:160150
HP:0003674	Onset	1785	DNM2	OMIM:615368
HP:0003674	Onset	64419	MTMR14	OMIM:160150
HP:0003674	Onset	64327	LMBR1	OMIM:188740
HP:0003674	Onset	153562	MARVELD2	OMIM:610153
HP:0003674	Onset	8481	OFD1	OMIM:311200
HP:0003674	Onset	8481	OFD1	OMIM:300209
HP:0003674	Onset	64135	IFIH1	OMIM:615846
HP:0003674	Onset	3708	ITPR1	OMIM:117360
HP:0003674	Onset	3708	ITPR1	OMIM:206700
HP:0003674	Onset	6331	SCN5A	OMIM:608567
HP:0003674	Onset	2103	ESRRB	OMIM:608565
HP:0003674	Onset	2535	FZD2	OMIM:164745
HP:0003674	Onset	2652	OPN1MW	OMIM:303800
HP:0003674	Onset	6949	TCOF1	OMIM:154500
HP:0003674	Onset	10661	KLF1	OMIM:613673
HP:0003674	Onset	55835	CENPJ	OMIM:613676
HP:0003674	Onset	55835	CENPJ	OMIM:608393
HP:0003674	Onset	2147	F2	OMIM:613679
HP:0003674	Onset	1302	COL11A2	OMIM:614524
HP:0003674	Onset	1302	COL11A2	OMIM:215150
HP:0003674	Onset	3753	KCNE1	OMIM:612347
HP:0003674	Onset	10682	EBP	OMIM:302960
HP:0003674	Onset	171023	ASXL1	OMIM:605039
HP:0003674	Onset	79228	THOC6	OMIM:613680
HP:0003674	Onset	9276	COPB2	OMIM:617800
HP:0003674	Onset	2033	EP300	OMIM:613684
HP:0003674	Onset	2033	EP300	OMIM:180849
HP:0003674	Onset	84667	HES7	OMIM:613686
HP:0003674	Onset	3679	ITGA7	OMIM:613204
HP:0003674	Onset	220136	CFAP53	OMIM:614779
HP:0003674	Onset	7407	VARS1	OMIM:617802
HP:0003674	Onset	9894	TELO2	OMIM:616954
HP:0003674	Onset	80000	GREB1L	OMIM:617805
HP:0003674	Onset	80000	GREB1L	OMIM:619274
HP:0003674	Onset	5830	PEX5	OMIM:616716
HP:0003674	Onset	23592	LEMD3	OMIM:166700
HP:0003674	Onset	7490	WT1	OMIM:106210
HP:0003674	Onset	7490	WT1	OMIM:608978
HP:0003674	Onset	5080	PAX6	OMIM:106210
HP:0003674	Onset	8518	ELP1	OMIM:223900
HP:0003674	Onset	2261	FGFR3	OMIM:187600
HP:0003674	Onset	2261	FGFR3	OMIM:616482
HP:0003674	Onset	2261	FGFR3	OMIM:100800
HP:0003674	Onset	91949	COG7	OMIM:608779
HP:0003674	Onset	8243	SMC1A	OMIM:301044
HP:0003674	Onset	64116	SLC39A8	OMIM:616721
HP:0003674	Onset	1305	COL13A1	OMIM:616720
HP:0003674	Onset	23394	ADNP	OMIM:615873
HP:0003674	Onset	79848	CSPP1	OMIM:615636
HP:0003674	Onset	1788	DNMT3A	OMIM:615879
HP:0003674	Onset	10586	MAB21L2	OMIM:615877
HP:0003674	Onset	55593	OTUD5	OMIM:301056
HP:0003674	Onset	1837	DTNA	OMIM:604169
HP:0003674	Onset	4854	NOTCH3	OMIM:130720
HP:0003674	Onset	84162	BLTP1	OMIM:617822
HP:0003674	Onset	10229	COQ7	OMIM:616733
HP:0003674	Onset	1806	DPYD	OMIM:274270
HP:0003674	Onset	1278	COL1A2	OMIM:617821
HP:0003674	Onset	1278	COL1A2	OMIM:619120
HP:0003674	Onset	83479	DDX59	OMIM:174300
HP:0003674	Onset	6334	SCN8A	OMIM:614558
HP:0003674	Onset	79644	SRD5A3	OMIM:612379
HP:0003674	Onset	79644	SRD5A3	OMIM:612713
HP:0003674	Onset	2162	F13A1	OMIM:613225
HP:0003674	Onset	3097	HIVEP2	OMIM:616977
HP:0003674	Onset	10982	MAPRE2	OMIM:616734
HP:0003674	Onset	767	CA8	OMIM:613227
HP:0003674	Onset	5048	PAFAH1B1	OMIM:607432
HP:0003674	Onset	1959	EGR2	OMIM:605253
HP:0003674	Onset	54820	NDE1	OMIM:605013
HP:0003674	Onset	54820	NDE1	OMIM:614019
HP:0003674	Onset	7547	ZIC3	OMIM:306955
HP:0003674	Onset	10735	STAG2	OMIM:301022
HP:0003674	Onset	55906	ZC4H2	OMIM:314580
HP:0003674	Onset	54885	TBC1D8B	OMIM:301028
HP:0003674	Onset	112802	KRT71	OMIM:615896
HP:0003674	Onset	388753	COA6	OMIM:616501
HP:0003674	Onset	493753	COA5	OMIM:616500
HP:0003674	Onset	2165	F13B	OMIM:613235
HP:0003674	Onset	545	ATR	OMIM:614564
HP:0003674	Onset	80746	TSEN2	OMIM:612389
HP:0003674	Onset	284086	NEK8	OMIM:615415
HP:0003674	Onset	4047	LSS	OMIM:616509
HP:0003674	Onset	4047	LSS	OMIM:618275
HP:0003674	Onset	4047	LSS	OMIM:618840
HP:0003674	Onset	259232	NALCN	OMIM:615419
HP:0003674	Onset	259232	NALCN	OMIM:616266
HP:0003674	Onset	55764	IFT122	OMIM:218330
HP:0003674	Onset	3784	KCNQ1	OMIM:220400
HP:0003674	Onset	5422	POLA1	OMIM:301030
HP:0003674	Onset	7286	TUFT1	OMIM:607655
HP:0003674	Onset	3479	IGF1	OMIM:608747
HP:0003674	Onset	25	ABL1	OMIM:617602
HP:0003674	Onset	5147	PDE6D	OMIM:615665
HP:0003674	Onset	57511	COG6	OMIM:614576
HP:0003674	Onset	57511	COG6	OMIM:615328
HP:0003674	Onset	2260	FGFR1	OMIM:613001
HP:0003674	Onset	2260	FGFR1	OMIM:190440
HP:0003674	Onset	128637	TBC1D20	OMIM:615663
HP:0003674	Onset	29980	DONSON	OMIM:617604
HP:0003674	Onset	29980	DONSON	OMIM:251230
HP:0003674	Onset	8195	MKKS	OMIM:605231
HP:0003674	Onset	64840	PORCN	OMIM:305600
HP:0003674	Onset	200879	LIPH	OMIM:604379
HP:0003674	Onset	2703	GJA8	OMIM:116200
HP:0003674	Onset	26580	BSCL2	OMIM:269700
HP:0003674	Onset	8929	PHOX2B	OMIM:209880
HP:0003674	Onset	1103	CHAT	OMIM:254210
HP:0003674	Onset	1859	DYRK1A	OMIM:614104
HP:0003674	Onset	5333	PLCD1	OMIM:151600
HP:0003674	Onset	117581	TWIST2	OMIM:209885
HP:0003674	Onset	117581	TWIST2	OMIM:200110
HP:0003674	Onset	80781	COL18A1	OMIM:267750
HP:0003674	Onset	4148	MATN3	OMIM:608728
HP:0003674	Onset	286410	ATP11C	OMIM:301015
HP:0003674	Onset	3955	LFNG	OMIM:609813
HP:0003674	Onset	59344	ALOXE3	OMIM:606545
HP:0003674	Onset	59344	ALOXE3	OMIM:242100
HP:0003674	Onset	4893	NRAS	OMIM:137550
HP:0003674	Onset	3265	HRAS	OMIM:137550
HP:0003674	Onset	1836	SLC26A2	OMIM:222600
HP:0003674	Onset	1836	SLC26A2	OMIM:600972
HP:0003674	Onset	55617	TASP1	OMIM:618950
HP:0003674	Onset	27031	NPHP3	OMIM:208540
HP:0003674	Onset	114928	GPRASP2	OMIM:301018
HP:0003674	Onset	3098	HK1	OMIM:235700
HP:0003674	Onset	491	ATP2B2	OMIM:619804
HP:0003674	Onset	80210	ARMC9	OMIM:617622
HP:0003674	Onset	2625	GATA3	OMIM:146255
HP:0003674	Onset	526	ATP6V1B2	OMIM:124480
HP:0003674	Onset	8292	COLQ	OMIM:603034
HP:0003674	Onset	617	BCS1L	OMIM:124000
HP:0003674	Onset	925	CD8A	OMIM:608957
HP:0003674	Onset	259266	ASPM	OMIM:608716
HP:0003674	Onset	153241	CEP120	OMIM:616300
HP:0003674	Onset	23247	KATNIP	OMIM:616784
HP:0003674	Onset	2737	GLI3	OMIM:174700
HP:0003674	Onset	2737	GLI3	OMIM:174200
HP:0003674	Onset	9786	KIAA0586	OMIM:616546
HP:0003674	Onset	4038	LRP4	OMIM:616304
HP:0003674	Onset	4038	LRP4	OMIM:212780
HP:0003674	Onset	10274	STAG1	OMIM:617635
HP:0003674	Onset	387	RHOA	OMIM:618727
HP:0003674	Onset	3691	ITGB4	OMIM:619816
HP:0003674	Onset	3691	ITGB4	OMIM:226730
HP:0003674	Onset	3655	ITGA6	OMIM:619817
HP:0003674	Onset	8777	MPDZ	OMIM:615219
HP:0003674	Onset	10383	TUBB4B	OMIM:617879
HP:0003674	Onset	81570	CLPB	OMIM:619813
HP:0003674	Onset	81570	CLPB	OMIM:616271
HP:0003674	Onset	9939	RBM8A	OMIM:274000
HP:0003674	Onset	6496	SIX3	OMIM:157170
HP:0003674	Onset	3908	LAMA2	OMIM:607855
HP:0003674	Onset	23288	IQCE	OMIM:617642
HP:0003674	Onset	1804	DPP6	OMIM:616311
HP:0003674	Onset	57728	WDR19	OMIM:614378
HP:0003674	Onset	57728	WDR19	OMIM:614376
HP:0003674	Onset	51763	INPP5K	OMIM:617404
HP:0003674	Onset	7700	ZNF141	OMIM:615226
HP:0003674	Onset	1140	CHRNB1	OMIM:616314
HP:0003674	Onset	1140	CHRNB1	OMIM:616313
HP:0003674	Onset	529	ATP6V1E1	OMIM:617402
HP:0003674	Onset	6155	RPL27	OMIM:617408
HP:0003674	Onset	498	ATP5F1A	OMIM:615228
HP:0003674	Onset	498	ATP5F1A	OMIM:616045
HP:0003674	Onset	255758	DYNLT2B	OMIM:617405
HP:0003674	Onset	9381	OTOF	OMIM:601071
HP:0003674	Onset	64699	TMPRSS3	OMIM:601072
HP:0003674	Onset	352909	DNAAF3	OMIM:606763
HP:0003674	Onset	246329	STAC3	OMIM:255995
HP:0003674	Onset	23141	ANKLE2	OMIM:616681
HP:0003674	Onset	10617	STAMBP	OMIM:614261
HP:0003674	Onset	29925	GMPPB	OMIM:615350
HP:0003674	Onset	29925	GMPPB	OMIM:615351
HP:0003674	Onset	29925	GMPPB	OMIM:615352
HP:0003674	Onset	9853	RUSC2	OMIM:617773
HP:0003674	Onset	91754	NEK9	OMIM:614262
HP:0003674	Onset	2132	EXT2	OMIM:616682
HP:0003674	Onset	3783	KCNN4	OMIM:616689
HP:0003674	Onset	8425	LTBP4	OMIM:613177
HP:0003674	Onset	220	ALDH1A3	OMIM:615113
HP:0003674	Onset	10054	UBA2	OMIM:619959
HP:0003674	Onset	2972	BRF1	OMIM:616202
HP:0003674	Onset	8710	SERPINB7	OMIM:615598
HP:0003674	Onset	6938	TCF12	OMIM:619718
HP:0003674	Onset	81857	MED25	OMIM:616449
HP:0003674	Onset	3008	H1-4	OMIM:617537
HP:0003674	Onset	755	CFAP410	OMIM:602271
HP:0003674	Onset	10060	ABCC9	OMIM:619719
HP:0003674	Onset	64220	STRA6	OMIM:601186
HP:0003674	Onset	6720	SREBF1	OMIM:158310
HP:0003674	Onset	7849	PAX8	OMIM:218700
HP:0003674	Onset	267010	RNU12	OMIM:603116
HP:0003674	Onset	10300	KATNB1	OMIM:616212
HP:0003674	Onset	6536	SLC6A9	OMIM:617301
HP:0003674	Onset	55159	RFWD3	OMIM:617784
HP:0003674	Onset	1630	DCC	OMIM:617542
HP:0003674	Onset	2050	EPHB4	OMIM:617300
HP:0003674	Onset	2201	FBN2	OMIM:121050
HP:0003674	Onset	84570	COL25A1	OMIM:616219
HP:0003674	Onset	10381	TUBB3	OMIM:614039
HP:0003674	Onset	28960	DCPS	OMIM:616459
HP:0003674	Onset	54332	GDAP1	OMIM:607706
HP:0003674	Onset	220202	ATOH7	OMIM:221900
HP:0003674	Onset	2626	GATA4	OMIM:607941
HP:0003674	Onset	2626	GATA4	OMIM:614429
HP:0003674	Onset	2626	GATA4	OMIM:614430
HP:0003674	Onset	2626	GATA4	OMIM:615542
HP:0003674	Onset	54	ACP5	OMIM:607944
HP:0003674	Onset	9289	ADGRG1	OMIM:606854
HP:0003674	Onset	55870	ASH1L	OMIM:617796
HP:0003674	Onset	25885	POLR1A	OMIM:616462
HP:0003674	Onset	9469	CHST3	OMIM:143095
HP:0003674	Onset	816	CAMK2B	OMIM:617799
HP:0003674	Onset	7528	YY1	OMIM:617557
HP:0003674	Onset	56172	ANKH	OMIM:123000
HP:0003674	Onset	9581	PREPL	OMIM:616224
HP:0003674	Onset	5426	POLE	OMIM:615139
HP:0003674	Onset	90993	CREB3L1	OMIM:616229
HP:0003674	Onset	170825	GSX2	OMIM:618646
HP:0003674	Onset	21	ABCA3	OMIM:610921
HP:0003674	Onset	8726	EED	OMIM:617561
HP:0003674	Onset	203286	ANKS6	OMIM:615382
HP:0003674	Onset	54968	TMEM70	OMIM:614052
HP:0003674	Onset	497661	C18orf32	OMIM:619985
HP:0003674	Onset	1301	COL11A1	OMIM:228520
HP:0003674	Onset	55714	TENM3	OMIM:615145
HP:0003674	Onset	84314	TMEM107	OMIM:617563
HP:0003674	Onset	269	AMHR2	OMIM:261550
HP:0003674	Onset	268	AMH	OMIM:261550
HP:0003674	Onset	56992	KIF15	OMIM:619981
HP:0003674	Onset	55012	PPP2R3C	OMIM:618419
HP:0003674	Onset	55521	TRIM36	OMIM:206500
HP:0003674	Onset	4632	MYL1	OMIM:618414
HP:0003674	Onset	200734	SPRED2	OMIM:619745
HP:0003674	Onset	23268	DNMBP	OMIM:618415
HP:0003674	Onset	8642	DCHS1	OMIM:601390
HP:0003674	Onset	4647	MYO7A	OMIM:600060
HP:0003674	Onset	8241	RBM10	OMIM:311900
HP:0003674	Onset	6820	SULT2B1	OMIM:617571
HP:0003674	Onset	23312	DMXL2	OMIM:618663
HP:0003674	Onset	83861	RSPH3	OMIM:616481
HP:0003674	Onset	10717	AP4B1	OMIM:614066
HP:0003674	Onset	1349	COX7B	OMIM:309801
HP:0003674	Onset	3052	HCCS	OMIM:309801
HP:0003674	Onset	84879	MFSD2A	OMIM:616486
HP:0003674	Onset	51604	PIGT	OMIM:615398
HP:0003674	Onset	7862	BRPF1	OMIM:617333
HP:0003674	Onset	121214	SDR9C7	OMIM:617574
HP:0003674	Onset	54914	FOCAD	OMIM:619991
HP:0003674	Onset	55699	IARS2	OMIM:616007
HP:0003674	Onset	8363	H4C11	OMIM:619759
HP:0003674	Onset	1001	CDH3	OMIM:225280
HP:0003674	Onset	9453	GGPS1	OMIM:619518
HP:0003674	Onset	3481	IGF2	OMIM:616489
HP:0003674	Onset	6023	RMRP	OMIM:250250
HP:0003674	Onset	6023	RMRP	OMIM:607095
HP:0003674	Onset	9841	ZBTB24	OMIM:614069
HP:0003674	Onset	8364	H4C3	OMIM:619758
HP:0003674	Onset	145258	GSC	OMIM:602471
HP:0003674	Onset	2248	FGF3	OMIM:610706
HP:0003674	Onset	26137	ZBTB20	OMIM:259050
HP:0003674	Onset	8314	BAP1	OMIM:619762
HP:0003674	Onset	388552	BLOC1S3	OMIM:614077
HP:0003674	Onset	54928	BPNT2	OMIM:614078
HP:0003674	Onset	51098	IFT52	OMIM:617102
HP:0003674	Onset	53335	BCL11A	OMIM:617101
HP:0003674	Onset	9158	FIBP	OMIM:617107
HP:0003674	Onset	773	CACNA1A	OMIM:617106
HP:0003674	Onset	7140	TNNT3	OMIM:618435
HP:0003674	Onset	4763	NF1	OMIM:193520
HP:0003674	Onset	2542	SLC37A4	OMIM:619525
HP:0003674	Onset	6117	RPA1	OMIM:619767
HP:0003674	Onset	51341	ZBTB7A	OMIM:619769
HP:0003674	Onset	2316	FLNA	OMIM:304120
HP:0003674	Onset	57724	EPG5	OMIM:242840
HP:0003674	Onset	147409	DSG4	OMIM:607903
HP:0003674	Onset	23556	PIGN	OMIM:614080
HP:0003674	Onset	4621	MYH3	OMIM:178110
HP:0003674	Onset	51651	PTRH2	OMIM:616263
HP:0003674	Onset	55120	FANCL	OMIM:614083
HP:0003674	Onset	79989	IFT56	OMIM:619534
HP:0003674	Onset	339855	KY	OMIM:617114
HP:0003674	Onset	57479	PRR12	OMIM:619539
HP:0003674	Onset	5818	NECTIN1	OMIM:225060
HP:0003674	Onset	4851	NOTCH1	OMIM:616028
HP:0003674	Onset	7994	KAT6A	OMIM:616268
HP:0003674	Onset	23189	KANK1	OMIM:612900
HP:0003674	Onset	9896	FIG4	OMIM:216340
HP:0003674	Onset	9896	FIG4	OMIM:612691
HP:0003674	Onset	10195	ALG3	OMIM:601110
HP:0003674	Onset	3730	ANOS1	OMIM:308700
HP:0003674	Onset	148789	B3GALNT2	OMIM:615181
HP:0003674	Onset	1749	DLX5	OMIM:220600
HP:0003674	Onset	3845	KRAS	OMIM:600268
HP:0003674	Onset	3845	KRAS	OMIM:609942
HP:0003674	Onset	54903	MKS1	OMIM:617121
HP:0003674	Onset	3909	LAMA3	OMIM:619784
HP:0003674	Onset	3909	LAMA3	OMIM:619783
HP:0003674	Onset	3909	LAMA3	OMIM:226700
HP:0003674	Onset	57505	AARS2	OMIM:614096
HP:0003674	Onset	3918	LAMC2	OMIM:619785
HP:0003674	Onset	3918	LAMC2	OMIM:619786
HP:0003674	Onset	3918	LAMC2	OMIM:226700
HP:0003674	Onset	51362	CDC40	OMIM:619302
HP:0003674	Onset	8621	CDK13	OMIM:617360
HP:0003674	Onset	1308	COL17A1	OMIM:619787
HP:0003674	Onset	1419	CRYGB	OMIM:615188
HP:0003674	Onset	1892	ECHS1	OMIM:616277
HP:0003674	Onset	51117	COQ4	OMIM:616276
HP:0003674	Onset	3763	KCNJ6	OMIM:614098
HP:0003674	Onset	5587	PRKD1	OMIM:617364
HP:0003674	Onset	93587	TRMT10A	OMIM:616033
HP:0003674	Onset	9533	POLR1C	OMIM:248390
HP:0003674	Onset	120766137	HRURF	OMIM:146550
HP:0003674	Onset	29968	PSAT1	OMIM:616038
HP:0003674	Onset	9851	KIAA0753	OMIM:617127
HP:0003674	Onset	115948	ODAD3	OMIM:616037
HP:0003674	Onset	55770	EXOC2	OMIM:619306
HP:0003674	Onset	7080	NKX2-1	OMIM:610978
HP:0003674	Onset	5290	PIK3CA	OMIM:612918
HP:0003674	Onset	5290	PIK3CA	OMIM:155500
HP:0003674	Onset	8504	PEX3	OMIM:617370
HP:0003674	Onset	5898	RALA	OMIM:619311
HP:0003674	Onset	79876	UBA5	OMIM:617132
HP:0003674	Onset	367	AR	OMIM:300633
HP:0003674	Onset	6909	TBX2	OMIM:618223
HP:0003674	Onset	51422	PRKAG2	OMIM:261740
HP:0003674	Onset	3852	KRT5	OMIM:619555
HP:0003674	Onset	3852	KRT5	OMIM:619588
HP:0003674	Onset	3852	KRT5	OMIM:619599
HP:0003674	Onset	3852	KRT5	OMIM:619594
HP:0003674	Onset	3852	KRT5	OMIM:131760
HP:0003674	Onset	3852	KRT5	OMIM:131960
HP:0003674	Onset	6477	SIAH1	OMIM:619314
HP:0003674	Onset	54892	NCAPG2	OMIM:618460
HP:0003674	Onset	112	ADCY6	OMIM:616287
HP:0003674	Onset	4000	LMNA	OMIM:619793
HP:0003674	Onset	85476	GFM1	OMIM:609060
HP:0003674	Onset	6650	CAPN15	OMIM:619318
HP:0003674	Onset	23384	SPECC1L	OMIM:600251
HP:0003674	Onset	23384	SPECC1L	OMIM:145420
HP:0003674	Onset	170302	ARX	OMIM:308350
HP:0003674	Onset	60482	SLC5A7	OMIM:617143
HP:0003674	Onset	1436	CSF1R	OMIM:618476
HP:0003674	Onset	54765	TRIM44	OMIM:617142
HP:0003674	Onset	26610	ELP4	OMIM:617141
HP:0003674	Onset	2623	GATA1	OMIM:190685
HP:0003674	Onset	29078	NDUFAF4	OMIM:618237
HP:0003674	Onset	4081	MAB21L1	OMIM:618479
HP:0003674	Onset	2068	ERCC2	OMIM:610756
HP:0003674	Onset	7846	TUBA1A	OMIM:611603
HP:0003674	Onset	2067	ERCC1	OMIM:610758
HP:0003674	Onset	9179	AP4M1	OMIM:612936
HP:0003674	Onset	79068	FTO	OMIM:612938
HP:0003674	Onset	8626	TP63	OMIM:106260
HP:0003674	Onset	8626	TP63	OMIM:604292
HP:0003674	Onset	25929	GEMIN5	OMIM:619333
HP:0003674	Onset	10940	POP1	OMIM:617396
HP:0003674	Onset	2530	FUT8	OMIM:618005
HP:0003674	Onset	1956	EGFR	OMIM:616069
HP:0003674	Onset	55572	FOXRED1	OMIM:618241
HP:0003674	Onset	54496	PRMT7	OMIM:617157
HP:0003674	Onset	23414	ZFPM2	OMIM:616067
HP:0003674	Onset	8260	NAA10	OMIM:300855
HP:0003674	Onset	182	JAG1	OMIM:619574
HP:0003674	Onset	182	JAG1	OMIM:617992
HP:0003674	Onset	7169	TPM2	OMIM:609285
HP:0003674	Onset	23229	ARHGEF9	OMIM:300607
HP:0003674	Onset	1147	CHUK	OMIM:619339
HP:0003674	Onset	92344	GORAB	OMIM:231070
HP:0003674	Onset	3913	LAMB2	OMIM:609049
HP:0003674	Onset	6491	STIL	OMIM:612703
HP:0003674	Onset	22845	DOLK	OMIM:610768
HP:0003674	Onset	8604	SLC25A12	OMIM:612949
HP:0003674	Onset	6768	ST14	OMIM:602400
HP:0003674	Onset	9509	ADAMTS2	OMIM:225410
HP:0003674	Onset	10524	KAT5	OMIM:619103
HP:0003674	Onset	372	ARCN1	OMIM:617164
HP:0003674	Onset	285600	KIAA0825	OMIM:618498
HP:0003674	Onset	3977	LIFR	OMIM:601559
HP:0003674	Onset	80173	IFT74	OMIM:619582
HP:0003674	Onset	1822	ATN1	OMIM:618494
HP:0003674	Onset	4700	NDUFA6	OMIM:618253
HP:0003674	Onset	84896	ATAD1	OMIM:618011
HP:0003674	Onset	115399	LRRC56	OMIM:618254
HP:0003674	Onset	5000	ORC4	OMIM:613800
HP:0003674	Onset	84668	HYCC1	OMIM:610532
HP:0003674	Onset	3930	LBR	OMIM:618019
HP:0003674	Onset	25939	SAMHD1	OMIM:612952
HP:0003674	Onset	2683	B4GALT1	OMIM:607091
HP:0003674	Onset	4990	SIX6	OMIM:206900
HP:0003674	Onset	4990	SIX6	OMIM:212550
HP:0003674	Onset	6657	SOX2	OMIM:206900
HP:0003674	Onset	81620	CDT1	OMIM:613804
HP:0003674	Onset	412	STS	OMIM:308100
HP:0003674	Onset	23594	ORC6	OMIM:613803
HP:0003674	Onset	990	CDC6	OMIM:613805
HP:0003674	Onset	339829	CCDC39	OMIM:613807
HP:0003674	Onset	1021	CDK6	OMIM:616080
HP:0003674	Onset	5281	PIGF	OMIM:619356
HP:0003674	Onset	29895	MYL11	OMIM:619110
HP:0003674	Onset	340419	RSPO2	OMIM:618021
HP:0003674	Onset	5530	PPP3CA	OMIM:618265
HP:0003674	Onset	5530	PPP3CA	OMIM:617711
HP:0003674	Onset	5702	PSMC3	OMIM:619354
HP:0003674	Onset	1387	CREBBP	OMIM:180849
HP:0003674	Onset	79005	SCNM1	OMIM:620107
HP:0003674	Onset	50846	DHH	OMIM:607080
HP:0003674	Onset	7168	TPM1	OMIM:611878
HP:0003674	Onset	8204	NRIP1	OMIM:618270
HP:0003674	Onset	23405	DICER1	OMIM:618272
HP:0003674	Onset	113189	CHST14	OMIM:601776
HP:0003674	Onset	90522	YIF1B	OMIM:619125
HP:0003674	Onset	291	SLC25A4	OMIM:617184
HP:0003674	Onset	55755	CDK5RAP2	OMIM:604804
HP:0003674	Onset	6472	SHMT2	OMIM:619121
HP:0003674	Onset	10220	GDF11	OMIM:619122
HP:0003674	Onset	90416	CCDC32	OMIM:619123
HP:0003674	Onset	23287	AGTPBP1	OMIM:618276
HP:0003674	Onset	10161	LPAR6	OMIM:278150
HP:0003674	Onset	64093	SMOC1	OMIM:206920
HP:0003674	Onset	22995	CEP152	OMIM:613823
HP:0003674	Onset	4604	MYBPC1	OMIM:614915
HP:0003674	Onset	9759	HDAC4	OMIM:600430
HP:0003674	Onset	55252	ASXL2	OMIM:617190
HP:0003674	Onset	4140	MARK3	OMIM:618283
HP:0003674	Onset	342035	GLDN	OMIM:617194
HP:0003674	Onset	6904	TBCD	OMIM:617193
HP:0003674	Onset	57020	VPS35L	OMIM:619135
HP:0003674	Onset	7390	UROS	OMIM:263700
HP:0003674	Onset	51371	POMP	OMIM:618048
HP:0003674	Onset	3739	KCNA4	OMIM:618284
HP:0003674	Onset	1984	EIF5A	OMIM:619376
HP:0003674	Onset	2733	GLE1	OMIM:611890
HP:0003674	Onset	210	ALAD	OMIM:612740
HP:0003674	Onset	55005	RMND1	OMIM:614922
HP:0003674	Onset	59	ACTA2	OMIM:613834
HP:0003674	Onset	5076	PAX2	OMIM:120330
HP:0003674	Onset	224	ALDH3A2	OMIM:270200
HP:0003674	Onset	23299	BICD2	OMIM:618291
HP:0003674	Onset	11011	TLK2	OMIM:618050
HP:0003674	Onset	57538	ALPK3	OMIM:618052
HP:0003674	Onset	3735	KARS1	OMIM:619147
HP:0003674	Onset	5566	PRKACA	OMIM:619142
HP:0003674	Onset	8665	EIF3F	OMIM:618295
HP:0003674	Onset	5567	PRKACB	OMIM:619143
HP:0003674	Onset	146059	CDAN1	OMIM:224120
HP:0003674	Onset	8823	FGF16	OMIM:309630
HP:0003674	Onset	7287	TULP1	OMIM:613843
HP:0003674	Onset	8517	IKBKG	OMIM:308300
HP:0003674	Onset	3480	IGF1R	OMIM:270450
HP:0003674	Onset	3476	IGBP1	OMIM:300472
HP:0003674	Onset	11113	CIT	OMIM:617090
HP:0003674	Onset	4359	MPZ	OMIM:618184
HP:0003674	Onset	84189	SLITRK6	OMIM:221200
HP:0003674	Onset	10128	LRPPRC	OMIM:220111
HP:0003674	Onset	10134	BCAP31	OMIM:300475
HP:0003674	Onset	158	ADSL	OMIM:103050
HP:0003674	Onset	10262	SF3B4	OMIM:154400
HP:0003674	Onset	8506	CNTNAP1	OMIM:618186
HP:0003674	Onset	55503	TRPV6	OMIM:618188
HP:0003674	Onset	83700	JAM3	OMIM:613730
HP:0003674	Onset	4091	SMAD6	OMIM:614823
HP:0003674	Onset	55624	POMGNT1	OMIM:253280
HP:0003674	Onset	55624	POMGNT1	OMIM:613151
HP:0003674	Onset	10992	SF3B2	OMIM:164210
HP:0003674	Onset	3048	HBG2	OMIM:613977
HP:0003674	Onset	8496	PPFIBP1	OMIM:620024
HP:0003674	Onset	4867	NPHP1	OMIM:609583
HP:0003674	Onset	80222	TARS2	OMIM:615918
HP:0003674	Onset	6840	SVIL	OMIM:619040
HP:0003674	Onset	3239	HOXD13	OMIM:186000
HP:0003674	Onset	4281	MID1	OMIM:300000
HP:0003674	Onset	8443	GNPAT	OMIM:222765
HP:0003674	Onset	162	AP1B1	OMIM:242150
HP:0003674	Onset	6335	SCN9A	OMIM:243000
HP:0003674	Onset	4649	MYO9A	OMIM:618198
HP:0003674	Onset	23322	RPGRIP1L	OMIM:611561
HP:0003674	Onset	84892	POMGNT2	OMIM:614830
HP:0003674	Onset	4882	NPR2	OMIM:615923
HP:0003674	Onset	23431	AP4E1	OMIM:613744
HP:0003674	Onset	4868	NPHS1	OMIM:256300
HP:0003674	Onset	7298	TYMS	OMIM:620040
HP:0003674	Onset	274	BIN1	OMIM:255200
HP:0003674	Onset	93	ACVR2B	OMIM:613751
HP:0003674	Onset	10015	PDCD6IP	OMIM:620047
HP:0003674	Onset	894	CCND2	OMIM:615938
HP:0003674	Onset	7841	MOGS	OMIM:606056
HP:0003674	Onset	55107	ANO1	OMIM:620045
HP:0003674	Onset	8546	AP3B1	OMIM:608233
HP:0003674	Onset	2317	FLNB	OMIM:108720
HP:0003674	Onset	1339	COX6A2	OMIM:619062
HP:0003674	Onset	1717	DHCR7	OMIM:270400
HP:0003674	Onset	9377	COX5A	OMIM:619064
HP:0003674	Onset	860	RUNX2	OMIM:119600
HP:0003674	Onset	4212	MEIS2	OMIM:600987
HP:0003674	Onset	4697	NDUFA4	OMIM:619065
HP:0003674	Onset	5167	ENPP1	OMIM:208000
HP:0003674	Onset	5167	ENPP1	OMIM:615522
HP:0003674	Onset	51199	NIN	OMIM:614851
HP:0003674	Onset	1410	CRYAB	OMIM:613763
HP:0003674	Onset	60	ACTB	OMIM:607371
HP:0003674	Onset	6663	SOX10	OMIM:611584
HP:0003674	Onset	5144	PDE4D	OMIM:614613
HP:0003674	Onset	117155	CATSPER2	OMIM:611102
HP:0003674	Onset	161497	STRC	OMIM:611102
HP:0003674	Onset	649	BMP1	OMIM:614856
HP:0003674	Onset	2301	FOXE3	OMIM:610256
HP:0003674	Onset	51021	MRPS16	OMIM:610498
HP:0003674	Onset	57465	TBC1D24	OMIM:614617
HP:0003674	Onset	57465	TBC1D24	OMIM:220500
HP:0003674	Onset	26005	C2CD3	OMIM:615948
HP:0003674	Onset	1906	EDN1	OMIM:615706
HP:0003674	Onset	5193	PEX12	OMIM:614859
HP:0003674	Onset	5193	PEX12	OMIM:266510
HP:0003674	Onset	374393	FAM111B	OMIM:615704
HP:0003674	Onset	5826	ABCD4	OMIM:614857
HP:0003674	Onset	79443	FYCO1	OMIM:610019
HP:0003674	Onset	6911	TBX6	OMIM:122600
HP:0003674	Onset	1174	AP1S1	OMIM:609313
HP:0003674	Onset	374654	KIF7	OMIM:607131
HP:0003674	Onset	2697	GJA1	OMIM:257850
HP:0003674	Onset	2697	GJA1	OMIM:104100
HP:0003674	Onset	2743	GLRB	OMIM:614619
HP:0003674	Onset	26227	PHGDH	OMIM:256520
HP:0003674	Onset	23265	EXOC7	OMIM:619072
HP:0003674	Onset	4204	MECP2	OMIM:300673
HP:0003674	Onset	117531	TMC1	OMIM:600974
HP:0003674	Onset	5091	PC	OMIM:266150
HP:0003674	Onset	222546	RFX6	OMIM:615710
HP:0003674	Onset	54084	TSPEAR	OMIM:614861
HP:0003674	Onset	5828	PEX2	OMIM:614866
HP:0003674	Onset	1282	COL4A1	OMIM:175780
HP:0003674	Onset	171019	ADAMTS19	OMIM:620067
HP:0003674	Onset	10518	CIB2	OMIM:614869
HP:0003674	Onset	4952	OCRL	OMIM:309000
HP:0003674	Onset	83475	DOHH	OMIM:620066
HP:0003674	Onset	84992	PIGY	OMIM:616809
HP:0003674	Onset	10236	HNRNPR	OMIM:620073
HP:0003674	Onset	51611	DPH5	OMIM:620070
HP:0003674	Onset	78989	COLEC11	OMIM:265050
HP:0003674	Onset	6558	SLC12A2	OMIM:619080
HP:0003674	Onset	402	ARL2	OMIM:619082
HP:0003674	Onset	5159	PDGFRB	OMIM:601812
HP:0003674	Onset	554	AVPR2	OMIM:304800
HP:0003674	Onset	5192	PEX10	OMIM:614870
HP:0003674	Onset	55670	PEX26	OMIM:614872
HP:0003674	Onset	488	ATP2A2	OMIM:101900
HP:0003674	Onset	28976	ACAD9	OMIM:611126
HP:0003674	Onset	25828	TXN2	OMIM:616811
HP:0003674	Onset	1588	CYP19A1	OMIM:613546
HP:0003674	Onset	7443	VRK1	OMIM:607596
HP:0003674	Onset	471	ATIC	OMIM:608688
HP:0003674	Onset	6231	RPS26	OMIM:613309
HP:0003674	Onset	6204	RPS10	OMIM:613308
HP:0003674	Onset	3911	LAMA5	OMIM:620076
HP:0003674	Onset	3187	HNRNPH1	OMIM:620083
HP:0003674	Onset	7837	PXDN	OMIM:269400
HP:0003674	Onset	4920	ROR2	OMIM:268310
HP:0003674	Onset	4677	NARS1	OMIM:619091
HP:0003674	Onset	4677	NARS1	OMIM:619092
HP:0003674	Onset	81031	SLC2A10	OMIM:208050
HP:0003674	Onset	254065	BRWD3	OMIM:300659
HP:0003674	Onset	2059	EPS8	OMIM:615974
HP:0003674	Onset	26022	TMEM98	OMIM:615972
HP:0003674	Onset	140628	GATA5	OMIM:617912
HP:0003674	Onset	11023	VAX1	OMIM:614402
HP:0003674	Onset	5824	PEX19	OMIM:614886
HP:0003674	Onset	5195	PEX14	OMIM:614887
HP:0003674	Onset	157570	ESCO2	OMIM:268300
HP:0003674	Onset	5631	PRPS1	OMIM:300661
HP:0003674	Onset	9775	EIF4A3	OMIM:268305
HP:0003674	Onset	25861	WHRN	OMIM:611383
HP:0003674	Onset	123016	TTC8	OMIM:615985
HP:0003674	Onset	51025	PAM16	OMIM:613320
HP:0003674	Onset	585	BBS4	OMIM:615982
HP:0003674	Onset	22954	TRIM32	OMIM:615988
HP:0003674	Onset	51475	CABP2	OMIM:614899
HP:0003674	Onset	166379	BBS12	OMIM:615989
HP:0003674	Onset	10664	CTCF	OMIM:615502
HP:0003674	Onset	27241	BBS9	OMIM:615986
HP:0003674	Onset	1828	DSG1	OMIM:615508
HP:0003674	Onset	5054	SERPINE1	OMIM:613329
HP:0003674	Onset	865	CBFB	OMIM:620099
HP:0003674	Onset	7051	TGM1	OMIM:242300
HP:0003674	Onset	579	NKX3-2	OMIM:613330
HP:0003674	Onset	4683	NBN	OMIM:251260
HP:0003674	Onset	11020	IFT27	OMIM:615996
HP:0003674	Onset	2984	GUCY2C	OMIM:614665
HP:0003674	Onset	81607	NECTIN4	OMIM:613573
HP:0003674	Onset	100151683	RNU4ATAC	OMIM:210710
HP:0003674	Onset	29926	GMPPA	OMIM:615510
HP:0003674	Onset	54585	LZTFL1	OMIM:615994
HP:0003674	Onset	5832	ALDH18A1	OMIM:616603
HP:0003674	Onset	7545	ZIC1	OMIM:616602
HP:0003674	Onset	658	BMPR1B	OMIM:616849
HP:0003674	Onset	1417	CRYBB3	OMIM:609741
HP:0003674	Onset	8556	CDC14A	OMIM:608653
HP:0003674	Onset	91179	SCARF2	OMIM:600920
HP:0003674	Onset	9662	CEP135	OMIM:614673
HP:0003674	Onset	10370	CITED2	OMIM:614431
HP:0003674	Onset	1482	NKX2-5	OMIM:614432
HP:0003674	Onset	1482	NKX2-5	OMIM:614435
HP:0003674	Onset	388389	CCDC103	OMIM:614679
HP:0003674	Onset	30008	EFEMP2	OMIM:614437
HP:0003674	Onset	5831	PYCR1	OMIM:614438
HP:0003674	Onset	5915	RARB	OMIM:615524
HP:0003674	Onset	51010	EXOSC3	OMIM:614678
HP:0003674	Onset	51259	TMEM216	OMIM:603194
HP:0003674	Onset	64221	ROBO3	OMIM:607313
HP:0003674	Onset	55997	CFC1	OMIM:605376
HP:0003674	Onset	5932	RBBP8	OMIM:251255
HP:0003674	Onset	7454	WAS	OMIM:300299
HP:0003674	Onset	78987	CRELD1	OMIM:606217
HP:0003674	Onset	203068	TUBB	OMIM:615771
HP:0003674	Onset	9631	NUP155	OMIM:615770
HP:0003674	Onset	10265	IRX5	OMIM:611174
HP:0003674	Onset	81027	TUBB1	OMIM:613112
HP:0003674	Onset	7026	NR2F2	OMIM:615779
HP:0003674	Onset	27315	PGAP2	OMIM:614207
HP:0003674	Onset	51008	ASCC1	OMIM:616867
HP:0003674	Onset	708	C1QBP	OMIM:617713
HP:0003674	Onset	1063	CENPF	OMIM:243605
HP:0003674	Onset	29940	DSE	OMIM:615539
HP:0003674	Onset	91647	ATPAF2	OMIM:604273
HP:0003674	Onset	727857	BHLHA9	OMIM:607539
HP:0003674	Onset	163183	SYNE4	OMIM:615540
HP:0003674	Onset	338917	VSX2	OMIM:610093
HP:0003674	Onset	79796	ALG9	OMIM:263210
HP:0003674	Onset	55750	AGK	OMIM:614691
HP:0003674	Onset	547	KIF1A	OMIM:614213
HP:0003674	Onset	54664	TMEM106B	OMIM:617964
HP:0003674	Onset	11280	SCN11A	OMIM:615548
HP:0003674	Onset	79633	FAT4	OMIM:615546
HP:0003674	Onset	124997	WDR81	OMIM:617967
HP:0003674	Onset	6785	ELOVL4	OMIM:614457
HP:0003674	Onset	9419	CRIPT	OMIM:615789
HP:0003674	Onset	65217	PCDH15	OMIM:602083
HP:0003674	Onset	55644	OSGEP	OMIM:617729
HP:0003674	Onset	57572	DOCK6	OMIM:614219
HP:0003674	Onset	59336	PRDM13	OMIM:619909
HP:0003674	Onset	242	ALOX12B	OMIM:242100
HP:0003674	Onset	401	PHOX2A	OMIM:602078
HP:0003674	Onset	8200	GDF5	OMIM:200700
HP:0003674	Onset	348938	NIPAL4	OMIM:612281
HP:0003674	Onset	6628	SNRPB	OMIM:117650
HP:0003674	Onset	112858	TP53RK	OMIM:617730
HP:0003674	Onset	6138	RPL15	OMIM:615550
HP:0003674	Onset	163786	SASS6	OMIM:616402
HP:0003674	Onset	25782	RAB3GAP2	OMIM:614225
HP:0003674	Onset	22931	RAB18	OMIM:614222
HP:0003674	Onset	23443	SLC35A3	OMIM:615553
HP:0003674	Onset	29957	SLC25A24	OMIM:612289
HP:0003674	Onset	3039	HBA1	OMIM:617973
HP:0003674	Onset	490	ATP2B1	OMIM:619910
HP:0003674	Onset	51776	MAP3K20	OMIM:616890
HP:0003674	Onset	3199	HOXA2	OMIM:612290
HP:0003674	Onset	51124	IER3IP1	OMIM:614231
HP:0003674	Onset	9918	NCAPD2	OMIM:617983
HP:0003674	Onset	54870	QRICH1	OMIM:617982
HP:0003674	Onset	2627	GATA6	OMIM:614474
HP:0003674	Onset	2627	GATA6	OMIM:614475
HP:0003674	Onset	11005	SPINK5	OMIM:256500
HP:0003674	Onset	23397	NCAPH	OMIM:617985
HP:0003674	Onset	55704	CCDC88A	OMIM:617507
HP:0003674	Onset	5500	PPP1CB	OMIM:617506
HP:0003674	Onset	7253	TSHR	OMIM:275200
HP:0003674	Onset	3284	HSD3B2	OMIM:201810
HP:0003674	Onset	5889	RAD51C	OMIM:613390
HP:0003674	Onset	200205	IBA57	OMIM:615330
HP:0003674	Onset	7431	VIM	OMIM:116300
HP:0003674	Onset	1663	DDX11	OMIM:613398
HP:0003674	Onset	119559	SFXN4	OMIM:615578
HP:0003674	Onset	5718	PSMD12	OMIM:617516
HP:0003674	Onset	51684	SUFU	OMIM:617757
HP:0003674	Onset	9439	MED23	OMIM:614249
HP:0003674	Onset	57731	SPTBN4	OMIM:617519
HP:0003674	Onset	10269	ZMPSTE24	OMIM:275210
HP:0003674	Onset	6223	RPS19	OMIM:105650
HP:0003674	Onset	10516	FBLN5	OMIM:219100
HP:0003674	Onset	5307	PITX1	OMIM:119800
HP:0003674	Onset	2902	GRIN1	OMIM:614254
HP:0003674	Onset	92935	MARS2	OMIM:616430
HP:0003674	Onset	22827	PUF60	OMIM:615583
HP:0003674	Onset	50484	RRM2B	OMIM:612075
HP:0003674	Onset	2815	GP9	OMIM:231200
HP:0003674	Onset	2811	GP1BA	OMIM:231200
HP:0003674	Onset	2812	GP1BB	OMIM:231200
HP:0003674	Onset	29089	UBE2T	OMIM:616435
HP:0003674	Onset	127534	GJB4	OMIM:617524
HP:0003674	Onset	85378	TUBGCP6	OMIM:251270
HP:0003674	Onset	4254	KITLG	OMIM:619947
HP:0003674	Onset	9181	ARHGEF2	OMIM:617523
HP:0003674	Onset	10058	ABCB6	OMIM:614497
HP:0003674	Onset	6688	SPI1	OMIM:619707
HP:0003674	Onset	55753	OGDHL	OMIM:619701
HP:0003674	Onset	9373	PLAA	OMIM:617527
HP:0003674	Onset	100128908	CIROP	OMIM:619702
HP:0003674	Onset	2531	KDSR	OMIM:617526
HP:0003674	Onset	401474	SAMD12	OMIM:601068
HP:0003674	Onset	51726	DNAJB11	OMIM:618061
HP:0003674	Onset	23646	PLD3	OMIM:617770
HP:0003674	Onset	735	C9	OMIM:615591
HP:0003674	Onset	5949	RBP3	OMIM:615233
HP:0003674	Onset	25913	POT1	OMIM:616568
HP:0003674	Onset	25913	POT1	OMIM:615848
HP:0003674	Onset	2153	F5	OMIM:600880
HP:0003674	Onset	2153	F5	OMIM:188055
HP:0003674	Onset	2153	F5	OMIM:601367
HP:0003674	Onset	27327	TNRC6A	OMIM:618074
HP:0003674	Onset	2767	GNA11	OMIM:615361
HP:0003674	Onset	9693	RAPGEF2	OMIM:618075
HP:0003674	Onset	64072	CDH23	OMIM:617540
HP:0003674	Onset	101060691	NUTM2B-AS1	OMIM:618637
HP:0003674	Onset	10165	SLC25A13	OMIM:603471
HP:0003674	Onset	2642	GCGR	OMIM:619290
HP:0003674	Onset	23347	SMCHD1	OMIM:158901
HP:0003674	Onset	6794	STK11	OMIM:260350
HP:0003674	Onset	7157	TP53	OMIM:260350
HP:0003674	Onset	4089	SMAD4	OMIM:260350
HP:0003674	Onset	283677	REC114	OMIM:619176
HP:0003674	Onset	6575	SLC20A2	OMIM:213600
HP:0003674	Onset	9639	ARHGEF10	OMIM:608236
HP:0003674	Onset	9499	MYOT	OMIM:609200
HP:0003674	Onset	7276	TTR	OMIM:105210
HP:0003674	Onset	10273	STUB1	OMIM:618093
HP:0003674	Onset	6687	SPG7	OMIM:607259
HP:0003674	Onset	11232	POLG2	OMIM:610131
HP:0003674	Onset	4582	MUC1	OMIM:174000
HP:0003674	Onset	29880	ALG5	OMIM:620056
HP:0003674	Onset	2259	FGF14	OMIM:620174
HP:0003674	Onset	1938	EEF2	OMIM:609306
HP:0003674	Onset	11277	TREX1	OMIM:192315
HP:0003674	Onset	7012	TERC	OMIM:614743
HP:0003674	Onset	79798	ARMC5	OMIM:615954
HP:0003674	Onset	8557	TCAP	OMIM:607487
HP:0003674	Onset	54440	SASH3	OMIM:301082
HP:0003674	Onset	8048	CSRP3	OMIM:607482
HP:0003674	Onset	8048	CSRP3	OMIM:612124
HP:0003674	Onset	4040	LRP6	OMIM:610947
HP:0003674	Onset	3931	LCAT	OMIM:245900
HP:0003674	Onset	51750	RTEL1	OMIM:616373
HP:0003674	Onset	5073	PARN	OMIM:616371
HP:0003674	Onset	80206	FHOD3	OMIM:619402
HP:0003674	Onset	9247	GCM2	OMIM:617343
HP:0003674	Onset	866	SERPINA6	OMIM:611489
HP:0003674	Onset	4205	MEF2A	OMIM:608320
HP:0003674	Onset	57104	PNPLA2	OMIM:610717
HP:0003674	Onset	1769	DNAH8	OMIM:619095
HP:0003674	Onset	9180	OSMR	OMIM:105250
HP:0003674	Onset	4846	NOS3	OMIM:601367
HP:0003674	Onset	4846	NOS3	OMIM:104300
HP:0003674	Onset	5583	PRKCH	OMIM:601367
HP:0003674	Onset	241	ALOX5AP	OMIM:601367
HP:0003674	Onset	64241	ABCG8	OMIM:210250
HP:0003674	Onset	7248	TSC1	OMIM:607341
HP:0003674	Onset	7249	TSC2	OMIM:607341
HP:0003674	Onset	2475	MTOR	OMIM:607341
HP:0003674	Onset	3617	IMPG1	OMIM:616151
HP:0003674	Onset	5424	POLD1	OMIM:612591
HP:0003674	Onset	11231	SEC63	OMIM:617004
HP:0003674	Onset	144245	ALG10B	OMIM:613688
HP:0003674	Onset	3757	KCNH2	OMIM:613688
HP:0003674	Onset	57592	ZNF687	OMIM:616833
HP:0003674	Onset	2157	F8	OMIM:301071
HP:0003674	Onset	2934	GSN	OMIM:105120
HP:0003674	Onset	6310	ATXN1	OMIM:164400
HP:0003674	Onset	8322	FZD4	OMIM:133780
HP:0003674	Onset	10020	GNE	OMIM:605820
HP:0003674	Onset	126129	CPT1C	OMIM:616282
HP:0003674	Onset	8076	MFAP5	OMIM:616166
HP:0003674	Onset	1356	CP	OMIM:604290
HP:0003674	Onset	3081	HGD	OMIM:203500
HP:0003674	Onset	23345	SYNE1	OMIM:610743
HP:0003674	Onset	4353	MPO	OMIM:104300
HP:0003674	Onset	3077	HFE	OMIM:104300
HP:0003674	Onset	5328	PLAU	OMIM:104300
HP:0003674	Onset	2495	FTH1	OMIM:615517
HP:0003674	Onset	27235	COQ2	OMIM:146500
HP:0003674	Onset	669	BPGM	OMIM:222800
HP:0003674	Onset	1743	DLST	OMIM:618475
HP:0003674	Onset	518	ATP5MC3	OMIM:619681
HP:0003674	Onset	4771	NF2	OMIM:162091
HP:0003674	Onset	4771	NF2	OMIM:607174
HP:0003674	Onset	6598	SMARCB1	OMIM:162091
HP:0003674	Onset	5244	ABCB4	OMIM:600803
HP:0003674	Onset	2784	GNB3	OMIM:617024
HP:0003674	Onset	123624	AGBL1	OMIM:615523
HP:0003674	Onset	4363	ABCC1	OMIM:618915
HP:0003674	Onset	2027	ENO3	OMIM:612932
HP:0003674	Onset	6391	SDHC	OMIM:605373
HP:0003674	Onset	8915	BCL10	OMIM:137245
HP:0003674	Onset	4633	MYL2	OMIM:608758
HP:0003674	Onset	55737	VPS35	OMIM:614203
HP:0003674	Onset	56244	BTNL2	OMIM:612387
HP:0003674	Onset	3273	HRG	OMIM:613116
HP:0003674	Onset	549	AUH	OMIM:250950
HP:0003674	Onset	2771	GNAI2	OMIM:192605
HP:0003674	Onset	11315	PARK7	OMIM:606324
HP:0003674	Onset	219972	MPEG1	OMIM:619223
HP:0003674	Onset	51428	DDX41	OMIM:616871
HP:0003674	Onset	5981	RFC1	OMIM:614575
HP:0003674	Onset	130951	M1AP	OMIM:619108
HP:0003674	Onset	81790	RNF170	OMIM:608984
HP:0003674	Onset	595	CCND1	OMIM:254500
HP:0003674	Onset	3981	LIG4	OMIM:254500
HP:0003674	Onset	5137	PDE1C	OMIM:618140
HP:0003674	Onset	1789	DNMT3B	OMIM:619478
HP:0003674	Onset	6336	SCN10A	OMIM:615551
HP:0003674	Onset	8216	LZTR1	OMIM:615670
HP:0003674	Onset	115650	TNFRSF13C	OMIM:613494
HP:0003674	Onset	6935	ZEB1	OMIM:609141
HP:0003674	Onset	5592	PRKG1	OMIM:615436
HP:0003674	Onset	1639	DCTN1	OMIM:607641
HP:0003674	Onset	1639	DCTN1	OMIM:105400
HP:0003674	Onset	1639	DCTN1	OMIM:168605
HP:0003674	Onset	5589	PRKCSH	OMIM:174050
HP:0003674	Onset	203228	C9orf72	OMIM:105550
HP:0003674	Onset	54949	SDHAF2	OMIM:601650
HP:0003674	Onset	56910	STARD7	OMIM:607876
HP:0003674	Onset	5728	PTEN	OMIM:158350
HP:0003674	Onset	5728	PTEN	OMIM:607174
HP:0003674	Onset	7504	XK	OMIM:300842
HP:0003674	Onset	7222	TRPC3	OMIM:616410
HP:0003674	Onset	10699	CORIN	OMIM:614595
HP:0003674	Onset	2956	MSH6	OMIM:614350
HP:0003674	Onset	9213	XPR1	OMIM:616413
HP:0003674	Onset	4913	NTHL1	OMIM:616415
HP:0003674	Onset	10342	TFG	OMIM:604484
HP:0003674	Onset	3123	HLA-DRB1	OMIM:181000
HP:0003674	Onset	3123	HLA-DRB1	OMIM:126200
HP:0003674	Onset	4221	MEN1	OMIM:131100
HP:0003674	Onset	56983	POGLUT1	OMIM:615696
HP:0003674	Onset	7056	THBD	OMIM:614486
HP:0003674	Onset	6522	SLC4A2	OMIM:620366
HP:0003674	Onset	4668	NAGA	OMIM:609242
HP:0003674	Onset	65057	ACD	OMIM:616553
HP:0003674	Onset	6041	RNASEL	OMIM:601518
HP:0003674	Onset	159686	CFAP58	OMIM:619144
HP:0003674	Onset	999	CDH1	OMIM:137215
HP:0003674	Onset	5277	PIGA	OMIM:300818
HP:0003674	Onset	207	AKT1	OMIM:615109
HP:0003674	Onset	6647	SOD1	OMIM:105400
HP:0003674	Onset	5630	PRPH	OMIM:105400
HP:0003674	Onset	4744	NEFH	OMIM:105400
HP:0003674	Onset	9987	HNRNPDL	OMIM:609115
HP:0003674	Onset	4330	MN1	OMIM:607174
HP:0003674	Onset	6605	SMARCE1	OMIM:607174
HP:0003674	Onset	5133	PDCD1	OMIM:126200
HP:0003674	Onset	114902	C1QTNF5	OMIM:605670
HP:0003674	Onset	146227	BEAN1	OMIM:117210
HP:0003674	Onset	6208	RPS14	OMIM:153550
HP:0003674	Onset	79188	TMEM43	OMIM:619832
HP:0003674	Onset	3875	KRT18	OMIM:215600
HP:0003674	Onset	6311	ATXN2	OMIM:183090
HP:0003674	Onset	6311	ATXN2	OMIM:168600
HP:0003674	Onset	644	BLVRA	OMIM:614156
HP:0003674	Onset	83872	HMCN1	OMIM:603075
HP:0003674	Onset	3078	CFHR1	OMIM:603075
HP:0003674	Onset	10878	CFHR3	OMIM:603075
HP:0003674	Onset	11155	LDB3	OMIM:609452
HP:0003674	Onset	3818	KLKB1	OMIM:612423
HP:0003674	Onset	2332	FMR1	OMIM:300623
HP:0003674	Onset	10347	ABCA7	OMIM:608907
HP:0003674	Onset	79719	AAGAB	OMIM:148600
HP:0003674	Onset	6934	TCF7L2	OMIM:125853
HP:0003674	Onset	3172	HNF4A	OMIM:125853
HP:0003674	Onset	3569	IL6	OMIM:125853
HP:0003674	Onset	3990	LIPC	OMIM:125853
HP:0003674	Onset	6927	HNF1A	OMIM:125853
HP:0003674	Onset	9479	MAPK8IP1	OMIM:125853
HP:0003674	Onset	56729	RETN	OMIM:125853
HP:0003674	Onset	4544	MTNR1B	OMIM:125853
HP:0003674	Onset	5506	PPP1R3A	OMIM:125853
HP:0003674	Onset	6833	ABCC8	OMIM:125853
HP:0003674	Onset	10644	IGF2BP2	OMIM:125853
HP:0003674	Onset	5770	PTPN1	OMIM:125853
HP:0003674	Onset	8660	IRS2	OMIM:125853
HP:0003674	Onset	3159	HMGA1	OMIM:125853
HP:0003674	Onset	5078	PAX4	OMIM:125853
HP:0003674	Onset	6928	HNF1B	OMIM:125853
HP:0003674	Onset	3667	IRS1	OMIM:125853
HP:0003674	Onset	4760	NEUROD1	OMIM:125853
HP:0003674	Onset	169026	SLC30A8	OMIM:125853
HP:0003674	Onset	2820	GPD2	OMIM:125853
HP:0003674	Onset	3767	KCNJ11	OMIM:125853
HP:0003674	Onset	6514	SLC2A2	OMIM:125853
HP:0003674	Onset	8106	PABPN1	OMIM:164300
HP:0003674	Onset	120892	LRRK2	OMIM:607060
HP:0003674	Onset	23435	TARDBP	OMIM:612069
HP:0003674	Onset	2747	GLUD2	OMIM:168600
HP:0003674	Onset	126	ADH1C	OMIM:168600
HP:0003674	Onset	2629	GBA1	OMIM:168600
HP:0003674	Onset	4929	NR4A2	OMIM:168600
HP:0003674	Onset	4576	MT-TT	OMIM:168600
HP:0003674	Onset	9627	SNCAIP	OMIM:168600
HP:0003674	Onset	6315	ATXN8OS	OMIM:168600
HP:0003674	Onset	3071	NCKAP1L	OMIM:618982
HP:0003674	Onset	51256	TBC1D7	OMIM:248000
HP:0003674	Onset	340533	NEXMIF	OMIM:300912
HP:0003674	Onset	1144	CHRND	OMIM:616322
HP:0003674	Onset	1144	CHRND	OMIM:616321
HP:0003674	Onset	2775	GNAO1	OMIM:615473
HP:0003674	Onset	2775	GNAO1	OMIM:617493
HP:0003674	Onset	23135	KDM6B	OMIM:618505
HP:0003674	Onset	55240	STEAP3	OMIM:615234
HP:0003674	Onset	23334	SZT2	OMIM:615476
HP:0003674	Onset	4919	ROR1	OMIM:617654
HP:0003674	Onset	9254	CACNA2D2	OMIM:618501
HP:0003674	Onset	4552	MTRR	OMIM:236270
HP:0003674	Onset	56704	JPH1	OMIM:607831
HP:0003674	Onset	161582	DNAAF4	OMIM:615482
HP:0003674	Onset	65993	MRPS34	OMIM:617664
HP:0003674	Onset	6487	ST3GAL3	OMIM:615006
HP:0003674	Onset	7532	YWHAG	OMIM:617665
HP:0003674	Onset	55904	KMT2E	OMIM:618512
HP:0003674	Onset	84520	GON7	OMIM:619603
HP:0003674	Onset	1161	ERCC8	OMIM:216400
HP:0003674	Onset	1161	ERCC8	OMIM:614621
HP:0003674	Onset	7054	TH	OMIM:605407
HP:0003674	Onset	2212	FCGR2A	OMIM:219700
HP:0003674	Onset	1080	CFTR	OMIM:219700
HP:0003674	Onset	1896	EDA	OMIM:305100
HP:0003674	Onset	55687	TRMU	OMIM:613070
HP:0003674	Onset	4318	MMP9	OMIM:613073
HP:0003674	Onset	23321	TRIM2	OMIM:615490
HP:0003674	Onset	818	CAMK2G	OMIM:618522
HP:0003674	Onset	54453	RIN2	OMIM:613075
HP:0003674	Onset	5105	PCK1	OMIM:261680
HP:0003674	Onset	6884	TAF13	OMIM:617432
HP:0003674	Onset	103	ADAR	OMIM:615010
HP:0003674	Onset	103	ADAR	OMIM:127400
HP:0003674	Onset	7343	UBTF	OMIM:617672
HP:0003674	Onset	6844	VAMP2	OMIM:618760
HP:0003674	Onset	64834	ELOVL1	OMIM:618527
HP:0003674	Onset	7852	CXCR4	OMIM:193670
HP:0003674	Onset	3064	HTT	OMIM:617435
HP:0003674	Onset	3614	IMPDH1	OMIM:180105
HP:0003674	Onset	90167	FRMD7	OMIM:310700
HP:0003674	Onset	1105	CHD1	OMIM:617682
HP:0003674	Onset	8789	FBP2	OMIM:619864
HP:0003674	Onset	57231	SNX14	OMIM:616354
HP:0003674	Onset	3340	NDST1	OMIM:616116
HP:0003674	Onset	58484	NLRC4	OMIM:616115
HP:0003674	Onset	284184	NDUFAF8	OMIM:618776
HP:0003674	Onset	4645	MYO5B	OMIM:619868
HP:0003674	Onset	4247	MGAT2	OMIM:212066
HP:0003674	Onset	167691	LCA5	OMIM:604537
HP:0003674	Onset	30009	TBX21	OMIM:619630
HP:0003674	Onset	55768	NGLY1	OMIM:615273
HP:0003674	Onset	26038	CHD5	OMIM:619873
HP:0003674	Onset	5034	P4HB	OMIM:112240
HP:0003674	Onset	8482	SEMA7A	OMIM:619874
HP:0003674	Onset	55621	TRMT1	OMIM:618302
HP:0003674	Onset	3737	KCNA2	OMIM:616366
HP:0003674	Onset	57680	CHD8	OMIM:615032
HP:0003674	Onset	3769	KCNJ13	OMIM:614186
HP:0003674	Onset	92609	TIMM50	OMIM:617698
HP:0003674	Onset	51692	CPSF3	OMIM:619876
HP:0003674	Onset	116115	ZNF526	OMIM:619877
HP:0003674	Onset	7173	TPO	OMIM:274500
HP:0003674	Onset	3507	IGHM	OMIM:601495
HP:0003674	Onset	5605	MAP2K2	OMIM:615280
HP:0003674	Onset	54828	BCAS3	OMIM:619641
HP:0003674	Onset	1615	DARS1	OMIM:615281
HP:0003674	Onset	122961	ISCA2	OMIM:616370
HP:0003674	Onset	8989	TRPA1	OMIM:615040
HP:0003674	Onset	11311	VPS45	OMIM:615285
HP:0003674	Onset	10991	SLC38A3	OMIM:619881
HP:0003674	Onset	113179	ADAT3	OMIM:615286
HP:0003674	Onset	1742	DLG4	OMIM:618793
HP:0003674	Onset	2904	GRIN2B	OMIM:616139
HP:0003674	Onset	4285	MIPEP	OMIM:617228
HP:0003674	Onset	10531	PITRM1	OMIM:619405
HP:0003674	Onset	6901	TAFAZZIN	OMIM:302060
HP:0003674	Onset	57609	DIP2B	OMIM:136630
HP:0003674	Onset	4488	MSX2	OMIM:604757
HP:0003674	Onset	4351	MPI	OMIM:602579
HP:0003674	Onset	92749	DRC1	OMIM:615294
HP:0003674	Onset	55739	NAXD	OMIM:618321
HP:0003674	Onset	7143	TNR	OMIM:619653
HP:0003674	Onset	5917	RARS1	OMIM:616140
HP:0003674	Onset	8565	YARS1	OMIM:619418
HP:0003674	Onset	6572	SLC18A3	OMIM:617239
HP:0003674	Onset	5741	PTH	OMIM:146200
HP:0003674	Onset	6476	SI	OMIM:222900
HP:0003674	Onset	10533	ATG7	OMIM:619422
HP:0003674	Onset	1523	CUX1	OMIM:618330
HP:0003674	Onset	51693	TRAPPC2L	OMIM:618331
HP:0003674	Onset	120	ADD3	OMIM:617008
HP:0003674	Onset	3000	GUCY2D	OMIM:204000
HP:0003674	Onset	7535	ZAP70	OMIM:617006
HP:0003674	Onset	7535	ZAP70	OMIM:269840
HP:0003674	Onset	2583	B4GALNT1	OMIM:609195
HP:0003674	Onset	5813	PURA	OMIM:616158
HP:0003674	Onset	3242	HPD	OMIM:276710
HP:0003674	Onset	3242	HPD	OMIM:140350
HP:0003674	Onset	9949	AMMECR1	OMIM:300990
HP:0003674	Onset	57459	GATAD2B	OMIM:615074
HP:0003674	Onset	1291	COL6A1	OMIM:254090
HP:0003674	Onset	1292	COL6A2	OMIM:254090
HP:0003674	Onset	84894	LINGO1	OMIM:618103
HP:0003674	Onset	7053	TGM3	OMIM:617251
HP:0003674	Onset	1441	CSF3R	OMIM:617014
HP:0003674	Onset	160418	TMTC3	OMIM:617255
HP:0003674	Onset	2187	FANCB	OMIM:300514
HP:0003674	Onset	54517	PUS7	OMIM:618342
HP:0003674	Onset	10765	KDM5B	OMIM:618109
HP:0003674	Onset	10564	ARFGEF2	OMIM:608097
HP:0003674	Onset	4967	OGDH	OMIM:203740
HP:0003674	Onset	6418	SET	OMIM:618106
HP:0003674	Onset	9526	MPDU1	OMIM:609180
HP:0003674	Onset	8737	RIPK1	OMIM:618108
HP:0003674	Onset	4703	NEB	OMIM:256030
HP:0003674	Onset	959	CD40LG	OMIM:308230
HP:0003674	Onset	1120	CHKB	OMIM:602541
HP:0003674	Onset	29887	SNX10	OMIM:615085
HP:0003674	Onset	64801	ARV1	OMIM:617020
HP:0003674	Onset	5568	PRKACG	OMIM:616176
HP:0003674	Onset	23043	TNIK	OMIM:617028
HP:0003674	Onset	64065	PERP	OMIM:619208
HP:0003674	Onset	154881	KCTD7	OMIM:611726
HP:0003674	Onset	79709	COLGALT1	OMIM:618360
HP:0003674	Onset	55777	MBD5	OMIM:156200
HP:0003674	Onset	51132	RLIM	OMIM:300978
HP:0003674	Onset	10588	MTHFS	OMIM:618367
HP:0003674	Onset	51434	ANAPC7	OMIM:619699
HP:0003674	Onset	537	ATP6AP1	OMIM:300972
HP:0003674	Onset	24140	FTSJ1	OMIM:309549
HP:0003674	Onset	7922	SLC39A7	OMIM:619693
HP:0003674	Onset	6601	SMARCC2	OMIM:618362
HP:0003674	Onset	92255	LMBRD2	OMIM:619694
HP:0003674	Onset	7468	NSD2	OMIM:619695
HP:0003674	Onset	819	CAMLG	OMIM:620201
HP:0003674	Onset	10083	USH1C	OMIM:276900
HP:0003674	Onset	51608	GET4	OMIM:620200
HP:0003674	Onset	56776	FMN2	OMIM:616193
HP:0003674	Onset	2064	ERBB2	OMIM:619465
HP:0003674	Onset	55630	SLC39A4	OMIM:201100
HP:0003674	Onset	254428	SLC41A1	OMIM:619468
HP:0003674	Onset	9758	FRMPD4	OMIM:300983
HP:0003674	Onset	7174	TPP2	OMIM:619220
HP:0003674	Onset	23328	SASH1	OMIM:618373
HP:0003674	Onset	23328	SASH1	OMIM:127500
HP:0003674	Onset	146206	CARMIL2	OMIM:618131
HP:0003674	Onset	4761	NEUROD2	OMIM:618374
HP:0003674	Onset	3188	HNRNPH2	OMIM:300986
HP:0003674	Onset	4548	MTR	OMIM:250940
HP:0003674	Onset	55186	SLC25A36	OMIM:620211
HP:0003674	Onset	9294	S1PR2	OMIM:610419
HP:0003674	Onset	83480	PUS3	OMIM:617051
HP:0003674	Onset	11212	PLPBP	OMIM:617290
HP:0003674	Onset	57498	KIDINS220	OMIM:617296
HP:0003674	Onset	54809	SAMD9	OMIM:617053
HP:0003674	Onset	23316	CUX2	OMIM:618141
HP:0003674	Onset	94005	PIGS	OMIM:618143
HP:0003674	Onset	83706	FERMT3	OMIM:612840
HP:0003674	Onset	8452	CUL3	OMIM:619239
HP:0003674	Onset	9968	MED12	OMIM:309520
HP:0003674	Onset	11198	SUPT16H	OMIM:619480
HP:0003674	Onset	8720	MBTPS1	OMIM:618392
HP:0003674	Onset	1457	CSNK2A1	OMIM:617062
HP:0003674	Onset	7204	TRIO	OMIM:617061
HP:0003674	Onset	7204	TRIO	OMIM:618825
HP:0003674	Onset	5058	PAK1	OMIM:618158
HP:0003674	Onset	200931	SLC51A	OMIM:619484
HP:0003674	Onset	2566	GABRG2	OMIM:618396
HP:0003674	Onset	1654	DDX3X	OMIM:300958
HP:0003674	Onset	54977	SLC25A38	OMIM:205950
HP:0003674	Onset	23096	IQSEC2	OMIM:309530
HP:0003674	Onset	91662	NLRP12	OMIM:611762
HP:0003674	Onset	7284	TUFM	OMIM:610678
HP:0003674	Onset	2799	GNS	OMIM:252940
HP:0003674	Onset	3921	RPSA	OMIM:271400
HP:0003674	Onset	26278	SACS	OMIM:270550
HP:0003674	Onset	50964	SOST	OMIM:122860
HP:0003674	Onset	55599	RNPC3	OMIM:618160
HP:0003674	Onset	80267	EDEM3	OMIM:619493
HP:0003674	Onset	5805	PTS	OMIM:261640
HP:0003674	Onset	63899	NSUN3	OMIM:619012
HP:0003674	Onset	1315	COPB1	OMIM:619255
HP:0003674	Onset	8831	SYNGAP1	OMIM:612621
HP:0003674	Onset	203190	LGI3	OMIM:620007
HP:0003674	Onset	11043	MID2	OMIM:300928
HP:0003674	Onset	81615	TMEM163	OMIM:620243
HP:0003674	Onset	84081	NSRP1	OMIM:620001
HP:0003674	Onset	4644	MYO5A	OMIM:214450
HP:0003674	Onset	5903	RANBP2	OMIM:608033
HP:0003674	Onset	2801	GOLGA2	OMIM:620240
HP:0003674	Onset	64802	NMNAT1	OMIM:619260
HP:0003674	Onset	64802	NMNAT1	OMIM:608553
HP:0003674	Onset	50617	ATP6V0A4	OMIM:602722
HP:0003674	Onset	64432	MRPS25	OMIM:619025
HP:0003674	Onset	5860	QDPR	OMIM:261630
HP:0003674	Onset	375056	MIA3	OMIM:619269
HP:0003674	Onset	56947	MFF	OMIM:617086
HP:0003674	Onset	118429	ANTXR2	OMIM:228600
HP:0003674	Onset	1496	CTNNA2	OMIM:618174
HP:0003674	Onset	83550	GPR101	OMIM:300942
HP:0003674	Onset	6326	SCN2A	OMIM:613721
HP:0003674	Onset	6326	SCN2A	OMIM:607745
HP:0003674	Onset	3785	KCNQ2	OMIM:613720
HP:0003674	Onset	23236	PLCB1	OMIM:613722
HP:0003674	Onset	5696	PSMB8	OMIM:256040
HP:0003674	Onset	6235	RPS29	OMIM:615909
HP:0003674	Onset	2760	GM2A	OMIM:272750
HP:0003674	Onset	4693	NDP	OMIM:305390
HP:0003674	Onset	4693	NDP	OMIM:310600
HP:0003674	Onset	5138	PDE2A	OMIM:619150
HP:0003674	Onset	64374	SIL1	OMIM:248800
HP:0003674	Onset	6535	SLC6A8	OMIM:300352
HP:0003674	Onset	26960	NBEA	OMIM:619157
HP:0003674	Onset	1183	CLCN4	OMIM:300114
HP:0003674	Onset	9722	NOS1AP	OMIM:619155
HP:0003674	Onset	27178	IL37	OMIM:619398
HP:0003674	Onset	23241	PACS2	OMIM:618067
HP:0003674	Onset	80308	FLAD1	OMIM:255100
HP:0003674	Onset	10312	TCIRG1	OMIM:259700
HP:0003674	Onset	781	CACNA2D1	OMIM:620149
HP:0003674	Onset	6165	RPL35A	OMIM:612528
HP:0003674	Onset	51343	FZR1	OMIM:620145
HP:0003674	Onset	10093	ARPC4	OMIM:620141
HP:0003674	Onset	146167	SLC38A8	OMIM:609218
HP:0003674	Onset	23149	FCHO1	OMIM:619164
HP:0003674	Onset	51506	UFC1	OMIM:618076
HP:0003674	Onset	1376	CPT2	OMIM:600649
HP:0003674	Onset	644096	SDHAF1	OMIM:619166
HP:0003674	Onset	80055	PGAP1	OMIM:615802
HP:0003674	Onset	10978	CLP1	OMIM:615803
HP:0003674	Onset	771	CA12	OMIM:143860
HP:0003674	Onset	6197	RPS6KA3	OMIM:303600
HP:0003674	Onset	8913	CACNA1G	OMIM:618087
HP:0003674	Onset	1272	CNTN1	OMIM:612540
HP:0003674	Onset	966	CD59	OMIM:612300
HP:0003674	Onset	2538	G6PC1	OMIM:232200
HP:0003674	Onset	8792	TNFRSF11A	OMIM:612301
HP:0003674	Onset	3953	LEPR	OMIM:614963
HP:0003674	Onset	26504	CNNM4	OMIM:217080
HP:0003674	Onset	23325	WASHC4	OMIM:615817
HP:0003674	Onset	54675	CRLS1	OMIM:620167
HP:0003674	Onset	56984	PSMG2	OMIM:619183
HP:0003674	Onset	815	CAMK2A	OMIM:618095
HP:0003674	Onset	815	CAMK2A	OMIM:617798
HP:0003674	Onset	23116	TOGARAM1	OMIM:619185
HP:0003674	Onset	1591	CYP24A1	OMIM:143880
HP:0003674	Onset	4915	NTRK2	OMIM:613886
HP:0003674	Onset	113235	SLC46A1	OMIM:229050
HP:0003674	Onset	11160	ERLIN2	OMIM:611225
HP:0003674	Onset	51293	CD320	OMIM:613646
HP:0003674	Onset	54872	PIGG	OMIM:616917
HP:0003674	Onset	10522	DEAF1	OMIM:615828
HP:0003674	Onset	10522	DEAF1	OMIM:617171
HP:0003674	Onset	30011	SH3KBP1	OMIM:300310
HP:0003674	Onset	26053	AUTS2	OMIM:615834
HP:0003674	Onset	10846	PDE10A	OMIM:616921
HP:0003674	Onset	3588	IL10RB	OMIM:612567
HP:0003674	Onset	1650	DDOST	OMIM:614507
HP:0003674	Onset	10056	FARSB	OMIM:613658
HP:0003674	Onset	55719	SLF2	OMIM:620184
HP:0003674	Onset	79759	ZNF668	OMIM:620194
HP:0003674	Onset	283209	PGM2L1	OMIM:620191
HP:0003674	Onset	1737	DLAT	OMIM:245348
HP:0003674	Onset	440138	ALG11	OMIM:613661
HP:0003674	Onset	23261	CAMTA1	OMIM:614756
HP:0003674	Onset	56623	INPP5E	OMIM:610156
HP:0003674	Onset	5340	PLG	OMIM:217090
HP:0003674	Onset	10472	ZBTB18	OMIM:612337
HP:0003674	Onset	9440	MED17	OMIM:613668
HP:0003674	Onset	917	CD3G	OMIM:615607
HP:0003674	Onset	1962	EHHADH	OMIM:615605
HP:0003674	Onset	84946	LTV1	OMIM:620199
HP:0003674	Onset	286676	ILDR1	OMIM:609646
HP:0003674	Onset	8813	DPM1	OMIM:608799
HP:0003674	Onset	55084	SOBP	OMIM:613671
HP:0003674	Onset	27086	FOXP1	OMIM:613670
HP:0003674	Onset	919	CD247	OMIM:610163
HP:0003674	Onset	6929	TCF3	OMIM:616941
HP:0003674	Onset	6929	TCF3	OMIM:619824
HP:0003674	Onset	55149	MTPAP	OMIM:613672
HP:0003674	Onset	55275	VPS53	OMIM:615851
HP:0003674	Onset	916	CD3E	OMIM:615615
HP:0003674	Onset	79718	TBL1XR1	OMIM:616944
HP:0003674	Onset	51322	WAC	OMIM:616708
HP:0003674	Onset	57679	ALS2	OMIM:607225
HP:0003674	Onset	915	CD3D	OMIM:615617
HP:0003674	Onset	85440	DOCK7	OMIM:615859
HP:0003674	Onset	28962	OSTM1	OMIM:259720
HP:0003674	Onset	65125	WNK1	OMIM:201300
HP:0003674	Onset	5962	RDX	OMIM:611022
HP:0003674	Onset	4208	MEF2C	OMIM:613443
HP:0003674	Onset	22907	DHX30	OMIM:617804
HP:0003674	Onset	196528	ARID2	OMIM:617808
HP:0003674	Onset	57410	SCYL1	OMIM:616719
HP:0003674	Onset	9230	RAB11B	OMIM:617807
HP:0003674	Onset	4976	OPA1	OMIM:210000
HP:0003674	Onset	8600	TNFSF11	OMIM:259710
HP:0003674	Onset	10075	HUWE1	OMIM:309590
HP:0003674	Onset	348980	HCN1	OMIM:615871
HP:0003674	Onset	8733	GPAA1	OMIM:617810
HP:0003674	Onset	79092	CARD14	OMIM:173200
HP:0003674	Onset	132	ADK	OMIM:614300
HP:0003674	Onset	9414	TJP2	OMIM:615878
HP:0003674	Onset	6948	TCN2	OMIM:275350
HP:0003674	Onset	89970	RSPRY1	OMIM:616723
HP:0003674	Onset	50943	FOXP3	OMIM:304790
HP:0003674	Onset	8763	CD164	OMIM:616969
HP:0003674	Onset	79650	USB1	OMIM:604173
HP:0003674	Onset	2258	FGF13	OMIM:301058
HP:0003674	Onset	9150	CTDP1	OMIM:604168
HP:0003674	Onset	3718	JAK3	OMIM:600802
HP:0003674	Onset	3074	HEXB	OMIM:268800
HP:0003674	Onset	5160	PDHA1	OMIM:312170
HP:0003674	Onset	473	RERE	OMIM:616975
HP:0003674	Onset	11151	CORO1A	OMIM:615401
HP:0003674	Onset	6144	RPL21	OMIM:615885
HP:0003674	Onset	4792	NFKBIA	OMIM:612132
HP:0003674	Onset	2782	GNB1	OMIM:616973
HP:0003674	Onset	1545	CYP1B1	OMIM:231300
HP:0003674	Onset	3176	HNMT	OMIM:616739
HP:0003674	Onset	84679	SLC9A7	OMIM:301024
HP:0003674	Onset	5251	PHEX	OMIM:307800
HP:0003674	Onset	4694	NDUFA1	OMIM:301020
HP:0003674	Onset	25953	PNKD	OMIM:118800
HP:0003674	Onset	23732	FRRS1L	OMIM:616981
HP:0003674	Onset	63035	BCORL1	OMIM:301029
HP:0003674	Onset	6709	SPTAN1	OMIM:613477
HP:0003674	Onset	1778	DYNC1H1	OMIM:614563
HP:0003674	Onset	51741	WWOX	OMIM:614322
HP:0003674	Onset	51741	WWOX	OMIM:616211
HP:0003674	Onset	10616	RBCK1	OMIM:615895
HP:0003674	Onset	6678	SPARC	OMIM:616507
HP:0003674	Onset	84693	MCEE	OMIM:251120
HP:0003674	Onset	51185	CRBN	OMIM:607417
HP:0003674	Onset	4982	TNFRSF11B	OMIM:239000
HP:0003674	Onset	6907	TBL1X	OMIM:301033
HP:0003674	Onset	4891	SLC11A2	OMIM:206100
HP:0003674	Onset	56479	KCNQ5	OMIM:617601
HP:0003674	Onset	4914	NTRK1	OMIM:256800
HP:0003674	Onset	667	DST	OMIM:615425
HP:0003674	Onset	9863	MAGI2	OMIM:617609
HP:0003674	Onset	401138	AMTN	OMIM:617607
HP:0003674	Onset	9997	SCO2	OMIM:604377
HP:0003674	Onset	3887	KRT81	OMIM:158000
HP:0003674	Onset	3889	KRT83	OMIM:158000
HP:0003674	Onset	3889	KRT83	OMIM:617756
HP:0003674	Onset	3892	KRT86	OMIM:158000
HP:0003674	Onset	11078	TRIOBP	OMIM:609823
HP:0003674	Onset	8270	LAGE3	OMIM:301006
HP:0003674	Onset	6812	STXBP1	OMIM:612164
HP:0003674	Onset	55180	LINS1	OMIM:614340
HP:0003674	Onset	11222	MRPL3	OMIM:614582
HP:0003674	Onset	81689	ISCA1	OMIM:617613
HP:0003674	Onset	1213	CLTC	OMIM:617854
HP:0003674	Onset	2517	FUCA1	OMIM:230000
HP:0003674	Onset	3458	IFNG	OMIM:613254
HP:0003674	Onset	23040	MYT1L	OMIM:616521
HP:0003674	Onset	64857	PLEKHG2	OMIM:616763
HP:0003674	Onset	189	AGXT	OMIM:259900
HP:0003674	Onset	80232	WDR26	OMIM:617616
HP:0003674	Onset	4329	ALDH6A1	OMIM:614105
HP:0003674	Onset	3570	IL6R	OMIM:618944
HP:0003674	Onset	3575	IL7R	OMIM:608971
HP:0003674	Onset	3060	HCRT	OMIM:161400
HP:0003674	Onset	122553	TRAPPC6B	OMIM:617862
HP:0003674	Onset	162514	TRPV3	OMIM:614594
HP:0003674	Onset	60528	ELAC2	OMIM:615440
HP:0003674	Onset	2893	GRIA4	OMIM:617864
HP:0003674	Onset	81562	LMAN2L	OMIM:617863
HP:0003674	Onset	81562	LMAN2L	OMIM:616887
HP:0003674	Onset	1605	DAG1	OMIM:616538
HP:0003674	Onset	84433	CARD11	OMIM:615206
HP:0003674	Onset	113246	C12orf57	OMIM:218340
HP:0003674	Onset	51	ACOX1	OMIM:264470
HP:0003674	Onset	5873	RAB27A	OMIM:607624
HP:0003674	Onset	54888	NSUN2	OMIM:611091
HP:0003674	Onset	2898	GRIK2	OMIM:611092
HP:0003674	Onset	54802	TRIT1	OMIM:617873
HP:0003674	Onset	51081	MRPS7	OMIM:617872
HP:0003674	Onset	1537	CYC1	OMIM:615453
HP:0003674	Onset	9731	CEP104	OMIM:616781
HP:0003674	Onset	9731	CEP104	OMIM:619988
HP:0003674	Onset	4724	NDUFS4	OMIM:252010
HP:0003674	Onset	5449	POU1F1	OMIM:613038
HP:0003674	Onset	23389	MED13L	OMIM:616789
HP:0003674	Onset	84059	ADGRV1	OMIM:604352
HP:0003674	Onset	55553	SOX6	OMIM:618971
HP:0003674	Onset	51075	TMX2	OMIM:618730
HP:0003674	Onset	115286	SLC25A26	OMIM:616794
HP:0003674	Onset	80169	CTC1	OMIM:612199
HP:0003674	Onset	721	C4B	OMIM:614379
HP:0003674	Onset	10892	MALT1	OMIM:615468
HP:0003674	Onset	10844	TUBGCP2	OMIM:618737
HP:0003674	Onset	109	ADCY3	OMIM:617885
HP:0003674	Onset	7252	TSHB	OMIM:275100
HP:0003674	Onset	2746	GLUD1	OMIM:606762
HP:0003674	Onset	3551	IKBKB	OMIM:615592
HP:0003674	Onset	8367	H4C5	OMIM:619950
HP:0003674	Onset	8294	H4C9	OMIM:619951
HP:0003674	Onset	5723	PSPH	OMIM:614023
HP:0003674	Onset	9524	TECR	OMIM:614020
HP:0003674	Onset	343450	KCNT2	OMIM:617771
HP:0003674	Onset	6873	TAF2	OMIM:615599
HP:0003674	Onset	2895	GRID2	OMIM:616204
HP:0003674	Onset	84818	IL17RC	OMIM:616445
HP:0003674	Onset	4860	PNP	OMIM:613179
HP:0003674	Onset	1355	COX15	OMIM:615119
HP:0003674	Onset	84942	WDR73	OMIM:251300
HP:0003674	Onset	7259	TSPYL1	OMIM:608800
HP:0003674	Onset	4522	MTHFD1	OMIM:617780
HP:0003674	Onset	3021	H3-3B	OMIM:619721
HP:0003674	Onset	10026	PIGK	OMIM:618879
HP:0003674	Onset	51111	KMT5B	OMIM:617788
HP:0003674	Onset	790	CAD	OMIM:616457
HP:0003674	Onset	1106	CHD2	OMIM:615369
HP:0003674	Onset	65082	VPS33A	OMIM:617303
HP:0003674	Onset	10730	YME1L1	OMIM:617302
HP:0003674	Onset	10565	ARFGEF1	OMIM:619964
HP:0003674	Onset	8309	ACOX2	OMIM:617308
HP:0003674	Onset	57156	TMEM63C	OMIM:619966
HP:0003674	Onset	27102	EIF2AK1	OMIM:618878
HP:0003674	Onset	120227	CYP2R1	OMIM:600081
HP:0003674	Onset	5189	PEX1	OMIM:214100
HP:0003674	Onset	5189	PEX1	OMIM:234580
HP:0003674	Onset	140803	TRPM6	OMIM:602014
HP:0003674	Onset	10559	SLC35A1	OMIM:603585
HP:0003674	Onset	83696	TRAPPC9	OMIM:613192
HP:0003674	Onset	60561	RINT1	OMIM:618641
HP:0003674	Onset	129685	TAF8	OMIM:619972
HP:0003674	Onset	51319	RSRC1	OMIM:618402
HP:0003674	Onset	7920	ABHD16A	OMIM:619735
HP:0003674	Onset	85365	ALG2	OMIM:616228
HP:0003674	Onset	85365	ALG2	OMIM:607906
HP:0003674	Onset	4323	MMP14	OMIM:277950
HP:0003674	Onset	1834	DSPP	OMIM:125420
HP:0003674	Onset	10715	CERS1	OMIM:616230
HP:0003674	Onset	84504	NKX6-2	OMIM:617560
HP:0003674	Onset	2688	GH1	OMIM:262400
HP:0003674	Onset	283987	HID1	OMIM:619983
HP:0003674	Onset	1303	COL12A1	OMIM:616470
HP:0003674	Onset	6712	SPTBN2	OMIM:615386
HP:0003674	Onset	6712	SPTBN2	OMIM:600224
HP:0003674	Onset	4174	MCM5	OMIM:617564
HP:0003674	Onset	28755	TRAC	OMIM:615387
HP:0003674	Onset	57178	ZMIZ1	OMIM:618659
HP:0003674	Onset	388962	BOLA3	OMIM:614299
HP:0003674	Onset	2783	GNB2	OMIM:619503
HP:0003674	Onset	79731	NARS2	OMIM:616239
HP:0003674	Onset	55623	THUMPD1	OMIM:619989
HP:0003674	Onset	284439	SLC25A42	OMIM:618416
HP:0003674	Onset	610	HCN2	OMIM:602477
HP:0003674	Onset	51594	NBAS	OMIM:616483
HP:0003674	Onset	253738	EBF3	OMIM:617330
HP:0003674	Onset	85301	COL27A1	OMIM:615155
HP:0003674	Onset	142680	SLC34A3	OMIM:241530
HP:0003674	Onset	65080	MRPL44	OMIM:615395
HP:0003674	Onset	27089	UQCRQ	OMIM:615159
HP:0003674	Onset	1182	CLCN3	OMIM:619517
HP:0003674	Onset	7381	UQCRB	OMIM:615158
HP:0003674	Onset	59335	PRDM12	OMIM:616488
HP:0003674	Onset	7701	ZNF142	OMIM:618425
HP:0003674	Onset	2643	GCH1	OMIM:233910
HP:0003674	Onset	4191	MDH2	OMIM:617339
HP:0003674	Onset	23474	ETHE1	OMIM:602473
HP:0003674	Onset	166785	MMAA	OMIM:251100
HP:0003674	Onset	5551	PRF1	OMIM:603553
HP:0003674	Onset	8676	STX11	OMIM:603552
HP:0003674	Onset	7750	ZMYM2	OMIM:619522
HP:0003674	Onset	5971	RELB	OMIM:617585
HP:0003674	Onset	9474	ATG5	OMIM:617584
HP:0003674	Onset	4849	CNOT3	OMIM:618672
HP:0003674	Onset	6942	TCF20	OMIM:618430
HP:0003674	Onset	6121	RPE65	OMIM:204100
HP:0003674	Onset	6506	SLC1A2	OMIM:617105
HP:0003674	Onset	10297	APC2	OMIM:618677
HP:0003674	Onset	10297	APC2	OMIM:617169
HP:0003674	Onset	9338	TCEAL1	OMIM:301094
HP:0003674	Onset	23162	MAPK8IP3	OMIM:618443
HP:0003674	Onset	3978	LIG1	OMIM:619774
HP:0003674	Onset	9319	TRIP13	OMIM:617598
HP:0003674	Onset	284098	PIGW	OMIM:616025
HP:0003674	Onset	2562	GABRB3	OMIM:617113
HP:0003674	Onset	84522	JAGN1	OMIM:616022
HP:0003674	Onset	79977	GRHL2	OMIM:616029
HP:0003674	Onset	388662	SLC6A17	OMIM:616269
HP:0003674	Onset	2678	GGT1	OMIM:231950
HP:0003674	Onset	51227	PIGP	OMIM:617599
HP:0003674	Onset	5271	SERPINB8	OMIM:617115
HP:0003674	Onset	1107	CHD3	OMIM:618205
HP:0003674	Onset	387733	IFITM5	OMIM:610967
HP:0003674	Onset	64421	DCLRE1C	OMIM:602450
HP:0003674	Onset	60681	FKBP10	OMIM:610968
HP:0003674	Onset	57192	MCOLN1	OMIM:252650
HP:0003674	Onset	3756	KCNH1	OMIM:611816
HP:0003674	Onset	258	AMBN	OMIM:616270
HP:0003674	Onset	81704	DOCK8	OMIM:243700
HP:0003674	Onset	27247	NFU1	OMIM:605711
HP:0003674	Onset	27077	B9D1	OMIM:617120
HP:0003674	Onset	5825	ABCD3	OMIM:616278
HP:0003674	Onset	133686	NADK2	OMIM:616034
HP:0003674	Onset	3658	IREB2	OMIM:618451
HP:0003674	Onset	6857	SYT1	OMIM:618218
HP:0003674	Onset	8905	AP1S2	OMIM:304340
HP:0003674	Onset	10456	HAX1	OMIM:610738
HP:0003674	Onset	84706	GPT2	OMIM:616281
HP:0003674	Onset	4723	NDUFV1	OMIM:618225
HP:0003674	Onset	30000	TNPO2	OMIM:619556
HP:0003674	Onset	79705	LRRK1	OMIM:615198
HP:0003674	Onset	51728	POLR3K	OMIM:619310
HP:0003674	Onset	4719	NDUFS1	OMIM:618226
HP:0003674	Onset	55628	ZNF407	OMIM:619557
HP:0003674	Onset	4720	NDUFS2	OMIM:618228
HP:0003674	Onset	4729	NDUFV2	OMIM:618229
HP:0003674	Onset	51412	ACTL6B	OMIM:618470
HP:0003674	Onset	831	CAST	OMIM:616295
HP:0003674	Onset	51103	NDUFAF1	OMIM:618234
HP:0003674	Onset	4695	NDUFA2	OMIM:618235
HP:0003674	Onset	3561	IL2RG	OMIM:300400
HP:0003674	Onset	79868	ALG13	OMIM:300884
HP:0003674	Onset	6651	SON	OMIM:617140
HP:0003674	Onset	8867	SYNJ1	OMIM:617389
HP:0003674	Onset	51601	LIPT1	OMIM:616299
HP:0003674	Onset	10659	CELF2	OMIM:619561
HP:0003674	Onset	22861	NLRP1	OMIM:617388
HP:0003674	Onset	23030	KDM4B	OMIM:619320
HP:0003674	Onset	3745	KCNB1	OMIM:616056
HP:0003674	Onset	5010	CLDN11	OMIM:619328
HP:0003674	Onset	9622	KLK4	OMIM:204700
HP:0003674	Onset	1130	LYST	OMIM:214500
HP:0003674	Onset	79944	L2HGDH	OMIM:236792
HP:0003674	Onset	8869	ST3GAL5	OMIM:609056
HP:0003674	Onset	1725	DHPS	OMIM:618480
HP:0003674	Onset	3192	HNRNPU	OMIM:617391
HP:0003674	Onset	55967	NDUFA12	OMIM:618244
HP:0003674	Onset	4715	NDUFB9	OMIM:618245
HP:0003674	Onset	56915	EXOSC5	OMIM:619576
HP:0003674	Onset	22796	COG2	OMIM:617395
HP:0003674	Onset	2560	GABRB1	OMIM:617153
HP:0003674	Onset	23221	RHOBTB2	OMIM:618004
HP:0003674	Onset	112939	NACC1	OMIM:617393
HP:0003674	Onset	25915	NDUFAF3	OMIM:618240
HP:0003674	Onset	2707	GJB3	OMIM:133200
HP:0003674	Onset	165	AEBP1	OMIM:618000
HP:0003674	Onset	3394	IRF8	OMIM:226990
HP:0003674	Onset	4705	NDUFA10	OMIM:618243
HP:0003674	Onset	123263	MTFMT	OMIM:618248
HP:0003674	Onset	7965	AIMP2	OMIM:618006
HP:0003674	Onset	51079	NDUFA13	OMIM:618249
HP:0003674	Onset	84188	FAR1	OMIM:619338
HP:0003674	Onset	10157	AASS	OMIM:238700
HP:0003674	Onset	23203	PMPCA	OMIM:213200
HP:0003674	Onset	3158	HMGCS2	OMIM:605911
HP:0003674	Onset	80324	PUS1	OMIM:600462
HP:0003674	Onset	1781	DYNC1I2	OMIM:618492
HP:0003674	Onset	7319	UBE2A	OMIM:300860
HP:0003674	Onset	774	CACNA1B	OMIM:618497
HP:0003674	Onset	26175	LYSET	OMIM:619345
HP:0003674	Onset	10845	CLPX	OMIM:618015
HP:0003674	Onset	23522	KAT6B	OMIM:603736
HP:0003674	Onset	2906	GRIN2D	OMIM:617162
HP:0003674	Onset	9451	EIF2AK3	OMIM:226980
HP:0003674	Onset	51300	TIMMDC1	OMIM:618251
HP:0003674	Onset	54681	P4HTM	OMIM:618493
HP:0003674	Onset	4714	NDUFB8	OMIM:618252
HP:0003674	Onset	4126	MANBA	OMIM:248510
HP:0003674	Onset	26040	SETBP1	OMIM:616078
HP:0003674	Onset	3560	IL2RB	OMIM:618495
HP:0003674	Onset	523	ATP6V1A	OMIM:618012
HP:0003674	Onset	2257	FGF12	OMIM:617166
HP:0003674	Onset	8635	RNASET2	OMIM:612951
HP:0003674	Onset	84701	COX4I2	OMIM:612714
HP:0003674	Onset	6697	SPR	OMIM:612716
HP:0003674	Onset	2628	GATM	OMIM:612718
HP:0003674	Onset	10771	ZMYND11	OMIM:616083
HP:0003674	Onset	11340	EXOSC8	OMIM:616081
HP:0003674	Onset	37	ACADVL	OMIM:201475
HP:0003674	Onset	65018	PINK1	OMIM:605909
HP:0003674	Onset	139411	PTCHD1	OMIM:300830
HP:0003674	Onset	5977	DPF2	OMIM:618027
HP:0003674	Onset	51095	TRNT1	OMIM:616084
HP:0003674	Onset	10681	GNB5	OMIM:617173
HP:0003674	Onset	10681	GNB5	OMIM:617182
HP:0003674	Onset	35	ACADS	OMIM:201470
HP:0003674	Onset	10847	SRCAP	OMIM:619595
HP:0003674	Onset	10847	SRCAP	OMIM:136140
HP:0003674	Onset	3839	KPNA3	OMIM:620106
HP:0003674	Onset	51091	SEPSECS	OMIM:613811
HP:0003674	Onset	55210	ATAD3A	OMIM:617183
HP:0003674	Onset	2571	GAD1	OMIM:619124
HP:0003674	Onset	128240	NAXE	OMIM:617186
HP:0003674	Onset	54790	TET2	OMIM:619126
HP:0003674	Onset	10651	MTX2	OMIM:619127
HP:0003674	Onset	285	ANGPT2	OMIM:619369
HP:0003674	Onset	22983	MAST1	OMIM:618273
HP:0003674	Onset	79143	MBOAT7	OMIM:617188
HP:0003674	Onset	226	ALDOA	OMIM:611881
HP:0003674	Onset	23031	MAST3	OMIM:620115
HP:0003674	Onset	3030	HADHA	OMIM:609015
HP:0003674	Onset	2593	GAMT	OMIM:612736
HP:0003674	Onset	1406	CRX	OMIM:613829
HP:0003674	Onset	6123	RPL3L	OMIM:619371
HP:0003674	Onset	6571	SLC18A2	OMIM:618049
HP:0003674	Onset	11014	KDELR2	OMIM:619131
HP:0003674	Onset	23154	NCDN	OMIM:619373
HP:0003674	Onset	4938	OAS1	OMIM:618042
HP:0003674	Onset	57152	SLURP1	OMIM:248300
HP:0003674	Onset	100	ADA	OMIM:102700
HP:0003674	Onset	9487	PIGL	OMIM:280000
HP:0003674	Onset	23418	CRB1	OMIM:613835
HP:0003674	Onset	124454	EARS2	OMIM:614924
HP:0003674	Onset	1795	DOCK3	OMIM:618292
HP:0003674	Onset	6850	SYK	OMIM:619381
HP:0003674	Onset	5257	PHKB	OMIM:261750
HP:0003674	Onset	27072	VPS41	OMIM:619389
HP:0003674	Onset	27161	AGO2	OMIM:619149
HP:0003674	Onset	221927	BRAT1	OMIM:618056
HP:0003674	Onset	221927	BRAT1	OMIM:614498
HP:0003674	Onset	9131	AIFM1	OMIM:300816
HP:0003674	Onset	87178	PNPT1	OMIM:614932
HP:0003674	Onset	10535	RNASEH2A	OMIM:610333
HP:0003674	Onset	54938	SARS2	OMIM:613845
HP:0003674	Onset	26275	HIBCH	OMIM:250620
HP:0003674	Onset	121340	SP7	OMIM:613849
HP:0003674	Onset	1534	CYB561	OMIM:618182
HP:0003674	Onset	4702	NDUFA8	OMIM:619272
HP:0003674	Onset	199857	ALG14	OMIM:619031
HP:0003674	Onset	2077	ERF	OMIM:600775
HP:0003674	Onset	79717	PPCS	OMIM:618189
HP:0003674	Onset	81555	YIPF5	OMIM:619278
HP:0003674	Onset	4574	MT-TS1	OMIM:220110
HP:0003674	Onset	4570	MT-TN	OMIM:220110
HP:0003674	Onset	6834	SURF1	OMIM:220110
HP:0003674	Onset	55325	UFSP2	OMIM:620028
HP:0003674	Onset	55325	UFSP2	OMIM:617974
HP:0003674	Onset	4774	NFIA	OMIM:613735
HP:0003674	Onset	1119	CHKA	OMIM:620023
HP:0003674	Onset	5111	PCNA	OMIM:615919
HP:0003674	Onset	118987	PDZD8	OMIM:620021
HP:0003674	Onset	57176	VARS2	OMIM:615917
HP:0003674	Onset	3073	HEXA	OMIM:272800
HP:0003674	Onset	2617	GARS1	OMIM:619042
HP:0003674	Onset	4983	OPHN1	OMIM:300486
HP:0003674	Onset	6576	SLC25A1	OMIM:618197
HP:0003674	Onset	1352	COX10	OMIM:619046
HP:0003674	Onset	973	CD79A	OMIM:613501
HP:0003674	Onset	3543	IGLL1	OMIM:613500
HP:0003674	Onset	2911	GRM1	OMIM:614831
HP:0003674	Onset	6507	SLC1A3	OMIM:612656
HP:0003674	Onset	29760	BLNK	OMIM:613502
HP:0003674	Onset	63908	NAPB	OMIM:620033
HP:0003674	Onset	8647	ABCB11	OMIM:601847
HP:0003674	Onset	2892	GRIA3	OMIM:300699
HP:0003674	Onset	100131801	PET100	OMIM:619055
HP:0003674	Onset	9739	SETD1A	OMIM:619056
HP:0003674	Onset	191	AHCY	OMIM:613752
HP:0003674	Onset	6499	SKIC2	OMIM:614602
HP:0003674	Onset	686	BTD	OMIM:253260
HP:0003674	Onset	340061	STING1	OMIM:615934
HP:0003674	Onset	36	ACADSB	OMIM:610006
HP:0003674	Onset	5896	RAG1	OMIM:233650
HP:0003674	Onset	5897	RAG2	OMIM:233650
HP:0003674	Onset	10716	TBR1	OMIM:606053
HP:0003674	Onset	79087	ALG12	OMIM:607143
HP:0003674	Onset	8802	SUCLG1	OMIM:245400
HP:0003674	Onset	4591	TRIM37	OMIM:253250
HP:0003674	Onset	124512	METTL23	OMIM:615942
HP:0003674	Onset	2214	FCGR3A	OMIM:615707
HP:0003674	Onset	1991	ELANE	OMIM:202700
HP:0003674	Onset	9711	RUBCN	OMIM:615705
HP:0003674	Onset	1802	DPH2	OMIM:620062
HP:0003674	Onset	443	ASPA	OMIM:271900
HP:0003674	Onset	6792	CDKL5	OMIM:300672
HP:0003674	Onset	3028	HSD17B10	OMIM:300438
HP:0003674	Onset	2677	GGCX	OMIM:277450
HP:0003674	Onset	9255	AIMP1	OMIM:260600
HP:0003674	Onset	2073	ERCC5	OMIM:278780
HP:0003674	Onset	10290	SPEG	OMIM:615959
HP:0003674	Onset	93210	PGAP3	OMIM:615716
HP:0003674	Onset	9990	SLC12A6	OMIM:620068
HP:0003674	Onset	64837	KLC2	OMIM:609541
HP:0003674	Onset	5700	PSMC1	OMIM:620071
HP:0003674	Onset	728294	D2HGDH	OMIM:600721
HP:0003674	Onset	9095	TBX19	OMIM:201400
HP:0003674	Onset	974	CD79B	OMIM:612692
HP:0003674	Onset	54919	DNAAF5	OMIM:614874
HP:0003674	Onset	9568	GABBR2	OMIM:617903
HP:0003674	Onset	9568	GABBR2	OMIM:617904
HP:0003674	Onset	5591	PRKDC	OMIM:615966
HP:0003674	Onset	9409	PEX16	OMIM:614877
HP:0003674	Onset	5336	PLCG2	OMIM:614878
HP:0003674	Onset	5336	PLCG2	OMIM:614468
HP:0003674	Onset	9342	SNAP29	OMIM:609528
HP:0003674	Onset	9147	NEMF	OMIM:619099
HP:0003674	Onset	282809	POC1B	OMIM:615973
HP:0003674	Onset	26047	CNTNAP2	OMIM:610042
HP:0003674	Onset	57654	UVSSA	OMIM:614640
HP:0003674	Onset	50628	GEMIN4	OMIM:617913
HP:0003674	Onset	2056	EPO	OMIM:617911
HP:0003674	Onset	84317	CCDC115	OMIM:616828
HP:0003674	Onset	85021	REPS1	OMIM:617916
HP:0003674	Onset	3954	LETM1	OMIM:620089
HP:0003674	Onset	1487	CTBP1	OMIM:617915
HP:0003674	Onset	506	ATP5F1B	OMIM:620085
HP:0003674	Onset	92154	MTSS2	OMIM:620086
HP:0003674	Onset	84978	FRMD5	OMIM:620094
HP:0003674	Onset	23636	NUP62	OMIM:271930
HP:0003674	Onset	51067	YARS2	OMIM:613561
HP:0003674	Onset	93183	PIGM	OMIM:610293
HP:0003674	Onset	3593	IL12B	OMIM:614890
HP:0003674	Onset	2581	GALC	OMIM:245200
HP:0003674	Onset	867	CBL	OMIM:613563
HP:0003674	Onset	85478	CCDC65	OMIM:615504
HP:0003674	Onset	6597	SMARCA4	OMIM:613325
HP:0003674	Onset	284119	CAVIN1	OMIM:613327
HP:0003674	Onset	2554	GABRA1	OMIM:615744
HP:0003674	Onset	137492	VPS37A	OMIM:614898
HP:0003674	Onset	10695	CNPY3	OMIM:617929
HP:0003674	Onset	57716	PRX	OMIM:145900
HP:0003674	Onset	1738	DLD	OMIM:246900
HP:0003674	Onset	2982	GUCY1A1	OMIM:615750
HP:0003674	Onset	3932	LCK	OMIM:615758
HP:0003674	Onset	53616	ADAM22	OMIM:617933
HP:0003674	Onset	6328	SCN3A	OMIM:617938
HP:0003674	Onset	27249	MMADHC	OMIM:277410
HP:0003674	Onset	411	ARSB	OMIM:253200
HP:0003674	Onset	5443	POMC	OMIM:609734
HP:0003674	Onset	55187	VPS13D	OMIM:607317
HP:0003674	Onset	57526	PCDH19	OMIM:300088
HP:0003674	Onset	5859	QARS1	OMIM:615760
HP:0003674	Onset	55209	SETD5	OMIM:615761
HP:0003674	Onset	6813	STXBP2	OMIM:613101
HP:0003674	Onset	58	ACTA1	OMIM:616852
HP:0003674	Onset	79631	EFL1	OMIM:617941
HP:0003674	Onset	7280	TUBB2A	OMIM:615763
HP:0003674	Onset	5429	POLH	OMIM:278750
HP:0003674	Onset	1825	DSC3	OMIM:613102
HP:0003674	Onset	56997	COQ8A	OMIM:612016
HP:0003674	Onset	91869	RFT1	OMIM:612015
HP:0003674	Onset	59067	IL21	OMIM:615767
HP:0003674	Onset	6301	SARS1	OMIM:617709
HP:0003674	Onset	1644	DDC	OMIM:608643
HP:0003674	Onset	1767	DNAH5	OMIM:608644
HP:0003674	Onset	26224	FBXL3	OMIM:606220
HP:0003674	Onset	51116	MRPS2	OMIM:617950
HP:0003674	Onset	79572	ATP13A3	OMIM:265400
HP:0003674	Onset	9512	PMPCB	OMIM:617954
HP:0003674	Onset	6097	RORC	OMIM:616622
HP:0003674	Onset	51206	GP6	OMIM:614201
HP:0003674	Onset	10095	ARPC1B	OMIM:617718
HP:0003674	Onset	9056	SLC7A7	OMIM:222700
HP:0003674	Onset	84168	ANTXR1	OMIM:602089
HP:0003674	Onset	3791	KDR	OMIM:602089
HP:0003674	Onset	1641	DCX	OMIM:300067
HP:0003674	Onset	80185	TTI2	OMIM:615541
HP:0003674	Onset	55780	ERMARD	OMIM:615544
HP:0003674	Onset	7421	VDR	OMIM:277440
HP:0003674	Onset	6773	STAT2	OMIM:616636
HP:0003674	Onset	27010	TPK1	OMIM:614458
HP:0003674	Onset	7074	TIAM1	OMIM:619908
HP:0003674	Onset	51128	SAR1B	OMIM:246700
HP:0003674	Onset	51501	HIKESHI	OMIM:616881
HP:0003674	Onset	10815	CPLX1	OMIM:617976
HP:0003674	Onset	3747	KCNC2	OMIM:619913
HP:0003674	Onset	84617	TUBB6	OMIM:617732
HP:0003674	Onset	6531	SLC6A3	OMIM:613135
HP:0003674	Onset	3704	ITPA	OMIM:616647
HP:0003674	Onset	338	APOB	OMIM:615558
HP:0003674	Onset	23209	MLC1	OMIM:604004
HP:0003674	Onset	368	ABCC6	OMIM:614473
HP:0003674	Onset	5788	PTPRC	OMIM:619924
HP:0003674	Onset	4780	NFE2L2	OMIM:617744
HP:0003674	Onset	23310	NCAPD3	OMIM:617984
HP:0003674	Onset	2890	GRIA1	OMIM:619927
HP:0003674	Onset	2890	GRIA1	OMIM:619931
HP:0003674	Onset	2741	GLRA1	OMIM:149400
HP:0003674	Onset	10243	GPHN	OMIM:149400
HP:0003674	Onset	55164	SHQ1	OMIM:619921
HP:0003674	Onset	55164	SHQ1	OMIM:619922
HP:0003674	Onset	6509	SLC1A4	OMIM:616657
HP:0003674	Onset	54676	GTPBP2	OMIM:617988
HP:0003674	Onset	100506658	OCLN	OMIM:251290
HP:0003674	Onset	2819	GPD1	OMIM:614480
HP:0003674	Onset	5879	RAC1	OMIM:617751
HP:0003674	Onset	440	ASNS	OMIM:615574
HP:0003674	Onset	9197	SLC33A1	OMIM:614482
HP:0003674	Onset	55023	PHIP	OMIM:617991
HP:0003674	Onset	2990	GUSB	OMIM:253220
HP:0003674	Onset	55812	SPATA7	OMIM:604232
HP:0003674	Onset	51733	UPB1	OMIM:613161
HP:0003674	Onset	101929726	MYMX	OMIM:619941
HP:0003674	Onset	23404	EXOSC2	OMIM:617763
HP:0003674	Onset	55331	ACER3	OMIM:617762
HP:0003674	Onset	8803	SUCLA2	OMIM:612073
HP:0003674	Onset	96459	FNIP1	OMIM:619705
HP:0003674	Onset	1794	DOCK2	OMIM:616433
HP:0003674	Onset	126792	B3GALT6	OMIM:615349
HP:0003674	Onset	58499	ZNF462	OMIM:618619
HP:0003674	Onset	25974	MMACHC	OMIM:277400
HP:0003674	Onset	5052	PRDX1	OMIM:277400
HP:0003674	Onset	8328	GFI1B	OMIM:187900
HP:0003674	Onset	4292	MLH1	OMIM:158320
HP:0003674	Onset	4436	MSH2	OMIM:158320
HP:0003674	Onset	6622	SNCA	OMIM:605543
HP:0003674	Onset	7384	UQCRC1	OMIM:619279
HP:0003674	Onset	583	BBS2	OMIM:616562
HP:0003674	Onset	4750	NEK1	OMIM:617892
HP:0003674	Onset	9782	MATR3	OMIM:606070
HP:0003674	Onset	7415	VCP	OMIM:616687
HP:0003674	Onset	7415	VCP	OMIM:167320
HP:0003674	Onset	7415	VCP	OMIM:613954
HP:0003674	Onset	3910	LAMA4	OMIM:615235
HP:0003674	Onset	400916	CHCHD10	OMIM:615911
HP:0003674	Onset	400916	CHCHD10	OMIM:615048
HP:0003674	Onset	7277	TUBA4A	OMIM:616208
HP:0003674	Onset	54982	CLN6	OMIM:204300
HP:0003674	Onset	4884	NPTX1	OMIM:620158
HP:0003674	Onset	653509	SFTPA1	OMIM:619611
HP:0003674	Onset	4901	NRL	OMIM:613750
HP:0003674	Onset	2702	GJA5	OMIM:614049
HP:0003674	Onset	6324	SCN1B	OMIM:615377
HP:0003674	Onset	6327	SCN2B	OMIM:615378
HP:0003674	Onset	9149	DYRK1B	OMIM:615812
HP:0003674	Onset	311	ANXA11	OMIM:619733
HP:0003674	Onset	311	ANXA11	OMIM:617839
HP:0003674	Onset	5350	PLN	OMIM:613874
HP:0003674	Onset	5173	PDYN	OMIM:610245
HP:0003674	Onset	80201	HKDC1	OMIM:619614
HP:0003674	Onset	7123	CLEC3B	OMIM:619977
HP:0003674	Onset	659	BMPR2	OMIM:178600
HP:0003674	Onset	5442	POLRMT	OMIM:619743
HP:0003674	Onset	246243	RNASEH1	OMIM:616479
HP:0003674	Onset	9907	AP5Z1	OMIM:613647
HP:0003674	Onset	6908	TBP	OMIM:607136
HP:0003674	Onset	9897	WASHC5	OMIM:603563
HP:0003674	Onset	4117	MAK	OMIM:614181
HP:0003674	Onset	5255	PHKA1	OMIM:300559
HP:0003674	Onset	4878	NPPA	OMIM:612201
HP:0003674	Onset	57863	CADM3	OMIM:619519
HP:0003674	Onset	60481	ELOVL5	OMIM:615957
HP:0003674	Onset	23095	KIF1B	OMIM:118210
HP:0003674	Onset	4437	MSH3	OMIM:617100
HP:0003674	Onset	57462	MYORG	OMIM:618317
HP:0003674	Onset	4137	MAPT	OMIM:600274
HP:0003674	Onset	5663	PSEN1	OMIM:600274
HP:0003674	Onset	5663	PSEN1	OMIM:613694
HP:0003674	Onset	9992	KCNE2	OMIM:611493
HP:0003674	Onset	3717	JAK2	OMIM:263300
HP:0003674	Onset	10133	OPTN	OMIM:613435
HP:0003674	Onset	351	APP	OMIM:605714
HP:0003674	Onset	23676	SMPX	OMIM:301075
HP:0003674	Onset	9217	VAPB	OMIM:182980
HP:0003674	Onset	9217	VAPB	OMIM:608627
HP:0003674	Onset	23093	TTLL5	OMIM:615860
HP:0003674	Onset	51142	CHCHD2	OMIM:616710
HP:0003674	Onset	339453	TMEM240	OMIM:607454
HP:0003674	Onset	1674	DES	OMIM:181400
HP:0003674	Onset	1861	TOR1A	OMIM:128100
HP:0003674	Onset	8729	GBF1	OMIM:606483
HP:0003674	Onset	4141	MARS1	OMIM:616280
HP:0003674	Onset	3741	KCNA5	OMIM:612240
HP:0003674	Onset	9698	PUM1	OMIM:617931
HP:0003674	Onset	4311	MME	OMIM:617018
HP:0003674	Onset	4311	MME	OMIM:617017
HP:0003674	Onset	5664	PSEN2	OMIM:613697
HP:0003674	Onset	5664	PSEN2	OMIM:606889
HP:0003674	Onset	2066	ERBB4	OMIM:615515
HP:0003674	Onset	3315	HSPB1	OMIM:606595
HP:0003674	Onset	7555	CNBP	OMIM:602668
HP:0003674	Onset	7317	UBA1	OMIM:301054
HP:0003674	Onset	3748	KCNC3	OMIM:605259
HP:0003674	Onset	440193	CCDC88C	OMIM:616053
HP:0003674	Onset	25814	ATXN10	OMIM:603516
HP:0003674	Onset	57798	GATAD1	OMIM:614672
HP:0003674	Onset	54822	TRPM7	OMIM:105500
HP:0003674	Onset	324	APC	OMIM:135290
HP:0003674	Onset	343641	TGM6	OMIM:613908
HP:0003674	Onset	8622	PDE8B	OMIM:609161
HP:0003674	Onset	100134444	KCNJ18	OMIM:613239
HP:0003674	Onset	55975	KLHL7	OMIM:612943
HP:0003674	Onset	116442	RAB39B	OMIM:311510
HP:0003674	Onset	3119	HLA-DQB1	OMIM:123400
HP:0003674	Onset	5621	PRNP	OMIM:123400
HP:0003674	Onset	5621	PRNP	OMIM:606688
HP:0003674	Onset	2632	GBE1	OMIM:263570
HP:0003674	Onset	9445	ITM2B	OMIM:616079
HP:0003674	Onset	10667	FARS2	OMIM:617046
HP:0003674	Onset	2992	GYG1	OMIM:616199
HP:0003674	Onset	55800	SCN3B	OMIM:613120
HP:0003674	Onset	4072	EPCAM	OMIM:613244
HP:0003674	Onset	3178	HNRNPA1	OMIM:615424
HP:0003674	Onset	26060	APPL1	OMIM:616511
HP:0003674	Onset	7273	TTN	OMIM:604145
HP:0003674	Onset	57338	JPH3	OMIM:606438
HP:0003674	Onset	1816	DRD5	OMIM:606798
HP:0003674	Onset	55791	LRIF1	OMIM:619477
HP:0003674	Onset	100996717	NOTCH2NLC	OMIM:619473
HP:0003674	Onset	4624	MYH6	OMIM:613252
HP:0003674	Onset	7414	VCL	OMIM:613255
HP:0003674	Onset	7414	VCL	OMIM:611407
HP:0003674	Onset	84839	RAX2	OMIM:620102
HP:0003674	Onset	672	BRCA1	OMIM:604370
HP:0003674	Onset	7084	TK2	OMIM:617069
HP:0003674	Onset	3827	KNG1	OMIM:619363
HP:0003674	Onset	8911	CACNA1I	OMIM:620114
HP:0003674	Onset	1786	DNMT1	OMIM:604121
HP:0003674	Onset	3710	ITPR3	OMIM:620111
HP:0003674	Onset	10137	RBM12	OMIM:617629
HP:0003674	Onset	25978	CHMP2B	OMIM:600795
HP:0003674	Onset	1716	DGUOK	OMIM:617070
HP:0003674	Onset	6389	SDHA	OMIM:619259
HP:0003674	Onset	1540	CYLD	OMIM:619132
HP:0003674	Onset	7072	TIA1	OMIM:619133
HP:0003674	Onset	7716	VEZF1	OMIM:620247
HP:0003674	Onset	654	BMP6	OMIM:620121
HP:0003674	Onset	348	APOE	OMIM:606889
HP:0003674	Onset	899	CCNF	OMIM:619141
HP:0003674	Onset	6103	RPGR	OMIM:300029
HP:0003674	Onset	1981	EIF4G1	OMIM:614251
HP:0003674	Onset	79875	THSD4	OMIM:619825
HP:0003674	Onset	2196	FAT2	OMIM:617769
HP:0003674	Onset	55901	THSD1	OMIM:618734
HP:0003674	Onset	8996	NOL3	OMIM:614937
HP:0003674	Onset	64170	CARD9	OMIM:212050
HP:0003674	Onset	7428	VHL	OMIM:263400
HP:0003674	Onset	10159	ATP6AP2	OMIM:300911
HP:0003674	Onset	151648	SGO1	OMIM:616201
HP:0003674	Onset	57468	SLC12A5	OMIM:616685
HP:0003674	Onset	9860	LRIG2	OMIM:615112
HP:0003674	Onset	7293	TNFRSF4	OMIM:615593
HP:0003674	Onset	253017	TECRL	OMIM:614021
HP:0003674	Onset	22880	MORC2	OMIM:616688
HP:0003674	Onset	63924	CIDEC	OMIM:615238
HP:0003674	Onset	5165	PDK3	OMIM:300905
HP:0003674	Onset	125150	ZSWIM7	OMIM:619834
HP:0003674	Onset	3703	STT3A	OMIM:619714
HP:0003674	Onset	8291	DYSF	OMIM:253601
HP:0003674	Onset	8291	DYSF	OMIM:606768
HP:0003674	Onset	7068	THRB	OMIM:274300
HP:0003674	Onset	1736	DKC1	OMIM:305000
HP:0003674	Onset	825	CAPN3	OMIM:253600
HP:0003674	Onset	825	CAPN3	OMIM:618129
HP:0003674	Onset	27022	FOXD3	OMIM:607836
HP:0003674	Onset	4210	MEFV	OMIM:249100
HP:0003674	Onset	4210	MEFV	OMIM:134610
HP:0003674	Onset	8566	PDXK	OMIM:618511
HP:0003674	Onset	374462	PTPRQ	OMIM:617663
HP:0003674	Onset	56616	DIABLO	OMIM:614152
HP:0003674	Onset	5155	PDGFB	OMIM:615483
HP:0003674	Onset	70	ACTC1	OMIM:612098
HP:0003674	Onset	70	ACTC1	OMIM:613424
HP:0003674	Onset	4598	MVK	OMIM:175900
HP:0003674	Onset	2099	ESR1	OMIM:615363
HP:0003674	Onset	57582	KCNT1	OMIM:615005
HP:0003674	Onset	477	ATP1A2	OMIM:619605
HP:0003674	Onset	477	ATP1A2	OMIM:602481
HP:0003674	Onset	84665	MYPN	OMIM:615248
HP:0003674	Onset	84665	MYPN	OMIM:617336
HP:0003674	Onset	55689	YEATS2	OMIM:615127
HP:0003674	Onset	2670	GFAP	OMIM:203450
HP:0003674	Onset	92840	REEP6	OMIM:617304
HP:0003674	Onset	79639	TMEM53	OMIM:619727
HP:0003674	Onset	4790	NFKB1	OMIM:616576
HP:0003674	Onset	10686	CLDN16	OMIM:248250
HP:0003674	Onset	3781	KCNN2	OMIM:619724
HP:0003674	Onset	8526	DGKE	OMIM:615008
HP:0003674	Onset	7486	WRN	OMIM:277700
HP:0003674	Onset	1476	CSTB	OMIM:254800
HP:0003674	Onset	81846	SBF2	OMIM:604563
HP:0003674	Onset	55034	MOCOS	OMIM:603592
HP:0003674	Onset	146057	TTBK2	OMIM:604432
HP:0003674	Onset	51083	GAL	OMIM:616461
HP:0003674	Onset	535	ATP6V0A1	OMIM:619971
HP:0003674	Onset	6772	STAT1	OMIM:614162
HP:0003674	Onset	6772	STAT1	OMIM:614892
HP:0003674	Onset	4358	MPV17	OMIM:618400
HP:0003674	Onset	7345	UCHL1	OMIM:615491
HP:0003674	Onset	7345	UCHL1	OMIM:620221
HP:0003674	Onset	57449	PLEKHG5	OMIM:615376
HP:0003674	Onset	63976	PRDM16	OMIM:615373
HP:0003674	Onset	286204	CRB2	OMIM:616220
HP:0003674	Onset	9364	RAB28	OMIM:615374
HP:0003674	Onset	79797	ZNF408	OMIM:616468
HP:0003674	Onset	10352	WARS2	OMIM:619738
HP:0003674	Onset	8930	MBD4	OMIM:619975
HP:0003674	Onset	6445	SGCG	OMIM:253700
HP:0003674	Onset	1181	CLCN2	OMIM:605635
HP:0003674	Onset	1181	CLCN2	OMIM:615651
HP:0003674	Onset	2645	GCK	OMIM:602485
HP:0003674	Onset	2645	GCK	OMIM:125851
HP:0003674	Onset	567	B2M	OMIM:241600
HP:0003674	Onset	10935	PRDX3	OMIM:619862
HP:0003674	Onset	10935	PRDX3	OMIM:619871
HP:0003674	Onset	5297	PI4KA	OMIM:619621
HP:0003674	Onset	83636	C19orf12	OMIM:614298
HP:0003674	Onset	83636	C19orf12	OMIM:615043
HP:0003674	Onset	4439	MSH5	OMIM:617442
HP:0003674	Onset	7466	WFS1	OMIM:614296
HP:0003674	Onset	7466	WFS1	OMIM:222300
HP:0003674	Onset	7466	WFS1	OMIM:600965
HP:0003674	Onset	9723	SEMA3E	OMIM:146110
HP:0003674	Onset	558	AXL	OMIM:146110
HP:0003674	Onset	2798	GNRHR	OMIM:146110
HP:0003674	Onset	2796	GNRH1	OMIM:146110
HP:0003674	Onset	10011	SRA1	OMIM:146110
HP:0003674	Onset	55717	WDR11	OMIM:146110
HP:0003674	Onset	8822	FGF17	OMIM:146110
HP:0003674	Onset	1848	DUSP6	OMIM:146110
HP:0003674	Onset	81848	SPRY4	OMIM:146110
HP:0003674	Onset	285025	CCDC141	OMIM:146110
HP:0003674	Onset	389549	FEZF1	OMIM:146110
HP:0003674	Onset	389549	FEZF1	OMIM:616030
HP:0003674	Onset	51271	UBAP1	OMIM:618418
HP:0003674	Onset	55526	DHTKD1	OMIM:615025
HP:0003674	Onset	1201	CLN3	OMIM:204200
HP:0003674	Onset	90268	OTULIN	OMIM:619986
HP:0003674	Onset	54840	APTX	OMIM:208920
HP:0003674	Onset	6392	SDHD	OMIM:168000
HP:0003674	Onset	9529	BAG5	OMIM:619747
HP:0003674	Onset	950	SCARB2	OMIM:254900
HP:0003674	Onset	79158	GNPTAB	OMIM:252600
HP:0003674	Onset	9927	MFN2	OMIM:601152
HP:0003674	Onset	4053	LTBP2	OMIM:251750
HP:0003674	Onset	10594	PRPF8	OMIM:600059
HP:0003674	Onset	1499	CTNNB1	OMIM:617572
HP:0003674	Onset	10043	TOM1	OMIM:619510
HP:0003674	Onset	3572	IL6ST	OMIM:619752
HP:0003674	Onset	5311	PKD2	OMIM:613095
HP:0003674	Onset	29775	CARD10	OMIM:619632
HP:0003674	Onset	23767	FLRT3	OMIM:615271
HP:0003674	Onset	402381	SOHLH1	OMIM:617690
HP:0003674	Onset	63982	ANO3	OMIM:615034
HP:0003674	Onset	91574	MTRFR	OMIM:615035
HP:0003674	Onset	8879	SGPL1	OMIM:617575
HP:0003674	Onset	805	CALM2	OMIM:616249
HP:0003674	Onset	5593	PRKG2	OMIM:619638
HP:0003674	Onset	54902	TTC19	OMIM:615157
HP:0003674	Onset	5295	PIK3R1	OMIM:616005
HP:0003674	Onset	389692	MAFA	OMIM:147630
HP:0003674	Onset	4808	NHLH2	OMIM:619755
HP:0003674	Onset	6262	RYR2	OMIM:604772
HP:0003674	Onset	845	CASQ2	OMIM:604772
HP:0003674	Onset	10345	TRDN	OMIM:604772
HP:0003674	Onset	1180	CLCN1	OMIM:255700
HP:0003674	Onset	1180	CLCN1	OMIM:160800
HP:0003674	Onset	6606	SMN1	OMIM:253400
HP:0003674	Onset	6607	SMN2	OMIM:253400
HP:0003674	Onset	51284	TLR7	OMIM:301080
HP:0003674	Onset	111	ADCY5	OMIM:606703
HP:0003674	Onset	10908	PNPLA6	OMIM:215470
HP:0003674	Onset	10059	DNM1L	OMIM:610708
HP:0003674	Onset	6101	RP1	OMIM:180100
HP:0003674	Onset	79991	STN1	OMIM:617341
HP:0003674	Onset	6305	SBF1	OMIM:615284
HP:0003674	Onset	11234	HPS5	OMIM:614074
HP:0003674	Onset	7075	TIE1	OMIM:619401
HP:0003674	Onset	84343	HPS3	OMIM:614072
HP:0003674	Onset	57169	ZNFX1	OMIM:619644
HP:0003674	Onset	150274	HSCB	OMIM:619523
HP:0003674	Onset	6329	SCN4A	OMIM:614198
HP:0003674	Onset	27068	PPA2	OMIM:617223
HP:0003674	Onset	5800	PTPRO	OMIM:614196
HP:0003674	Onset	256471	MFSD8	OMIM:610951
HP:0003674	Onset	11261	CHP1	OMIM:618438
HP:0003674	Onset	540	ATP7B	OMIM:277900
HP:0003674	Onset	6925	TCF4	OMIM:610954
HP:0003674	Onset	7139	TNNT2	OMIM:601494
HP:0003674	Onset	2556	GABRA3	OMIM:301091
HP:0003674	Onset	3373	HYAL1	OMIM:601492
HP:0003674	Onset	10280	SIGMAR1	OMIM:605726
HP:0003674	Onset	83723	TLCD3B	OMIM:619531
HP:0003674	Onset	11284	PNKP	OMIM:616267
HP:0003674	Onset	3423	IDS	OMIM:309900
HP:0003674	Onset	64377	CHST8	OMIM:616265
HP:0003674	Onset	2395	FXN	OMIM:229300
HP:0003674	Onset	2694	CBLIF	OMIM:261000
HP:0003674	Onset	10463	SLC30A9	OMIM:617595
HP:0003674	Onset	79651	RHBDF2	OMIM:148500
HP:0003674	Onset	8974	P4HA2	OMIM:617238
HP:0003674	Onset	2591	GALNT3	OMIM:211900
HP:0003674	Onset	5213	PFKM	OMIM:232800
HP:0003674	Onset	23499	MACF1	OMIM:618325
HP:0003674	Onset	775	CACNA1C	OMIM:618447
HP:0003674	Onset	54532	USP53	OMIM:619658
HP:0003674	Onset	51062	ATL1	OMIM:182600
HP:0003674	Onset	51196	PLCE1	OMIM:610725
HP:0003674	Onset	51311	TLR8	OMIM:301078
HP:0003674	Onset	1967	EIF2B1	OMIM:603896
HP:0003674	Onset	79628	SH3TC2	OMIM:601596
HP:0003674	Onset	1832	DSP	OMIM:612908
HP:0003674	Onset	6330	SCN4B	OMIM:611819
HP:0003674	Onset	859	CAV3	OMIM:611818
HP:0003674	Onset	859	CAV3	OMIM:606072
HP:0003674	Onset	859	CAV3	OMIM:614321
HP:0003674	Onset	5083	PAX9	OMIM:604625
HP:0003674	Onset	5654	HTRA1	OMIM:600142
HP:0003674	Onset	2055	CLN8	OMIM:600143
HP:0003674	Onset	2000	ELF4	OMIM:301074
HP:0003674	Onset	1536	CYBB	OMIM:306400
HP:0003674	Onset	1756	DMD	OMIM:302045
HP:0003674	Onset	54443	ANLN	OMIM:616032
HP:0003674	Onset	59345	GNB4	OMIM:615185
HP:0003674	Onset	23514	SPIDR	OMIM:619665
HP:0003674	Onset	3980	LIG3	OMIM:619780
HP:0003674	Onset	79734	KCTD17	OMIM:616398
HP:0003674	Onset	113220	KIF12	OMIM:619662
HP:0003674	Onset	203859	ANO5	OMIM:166260
HP:0003674	Onset	1642	DDB1	OMIM:619426
HP:0003674	Onset	10142	AKAP9	OMIM:611820
HP:0003674	Onset	9138	ARHGEF1	OMIM:618459
HP:0003674	Onset	389827	MYMK	OMIM:254940
HP:0003674	Onset	23064	SETX	OMIM:602433
HP:0003674	Onset	695	BTK	OMIM:300755
HP:0003674	Onset	4728	NDUFS8	OMIM:618222
HP:0003674	Onset	4175	MCM6	OMIM:223100
HP:0003674	Onset	2774	GNAL	OMIM:615073
HP:0003674	Onset	9210	BMP15	OMIM:300510
HP:0003674	Onset	50	ACO2	OMIM:616289
HP:0003674	Onset	2778	GNAS	OMIM:166350
HP:0003674	Onset	57122	NUP107	OMIM:618348
HP:0003674	Onset	57122	NUP107	OMIM:618078
HP:0003674	Onset	3426	CFI	OMIM:610984
HP:0003674	Onset	4179	CD46	OMIM:612922
HP:0003674	Onset	718	C3	OMIM:612925
HP:0003674	Onset	6442	SGCA	OMIM:608099
HP:0003674	Onset	55243	KIRREL1	OMIM:619201
HP:0003674	Onset	5515	PPP2CA	OMIM:618354
HP:0003674	Onset	84909	AOPEP	OMIM:619565
HP:0003674	Onset	745	MYRF	OMIM:618113
HP:0003674	Onset	5610	EIF2AK2	OMIM:619687
HP:0003674	Onset	3714	JAG2	OMIM:619566
HP:0003674	Onset	6340	SCNN1G	OMIM:618114
HP:0003674	Onset	92667	MGME1	OMIM:615084
HP:0003674	Onset	6096	RORB	OMIM:618357
HP:0003674	Onset	112755	STX1B	OMIM:616172
HP:0003674	Onset	4722	NDUFS3	OMIM:618230
HP:0003674	Onset	23586	RIGI	OMIM:616298
HP:0003674	Onset	51163	DBR1	OMIM:619441
HP:0003674	Onset	60509	AGBL5	OMIM:617023
HP:0003674	Onset	8912	CACNA1H	OMIM:617027
HP:0003674	Onset	3939	LDHA	OMIM:612933
HP:0003674	Onset	4010	LMX1B	OMIM:256020
HP:0003674	Onset	54344	DPM3	OMIM:612937
HP:0003674	Onset	2710	GK	OMIM:307030
HP:0003674	Onset	10166	SLC25A15	OMIM:238970
HP:0003674	Onset	427	ASAH1	OMIM:159950
HP:0003674	Onset	23005	MAPKBP1	OMIM:617271
HP:0003674	Onset	5071	PRKN	OMIM:600116
HP:0003674	Onset	4166	CHST6	OMIM:217800
HP:0003674	Onset	84061	MAGT1	OMIM:300853
HP:0003674	Onset	254394	MCM9	OMIM:616185
HP:0003674	Onset	63910	SLC17A9	OMIM:616063
HP:0003674	Onset	122622	ADSS1	OMIM:617030
HP:0003674	Onset	6530	SLC6A2	OMIM:604715
HP:0003674	Onset	29978	UBQLN2	OMIM:300857
HP:0003674	Onset	50619	DEF6	OMIM:619573
HP:0003674	Onset	7275	TUB	OMIM:616188
HP:0003674	Onset	3746	KCNC1	OMIM:616187
HP:0003674	Onset	4625	MYH7	OMIM:255160
HP:0003674	Onset	4625	MYH7	OMIM:613426
HP:0003674	Onset	2010	EMD	OMIM:310300
HP:0003674	Onset	6102	RP2	OMIM:312600
HP:0003674	Onset	4864	NPC1	OMIM:257220
HP:0003674	Onset	55863	TMEM126B	OMIM:618250
HP:0003674	Onset	112812	FDX2	OMIM:251900
HP:0003674	Onset	51102	MECR	OMIM:617282
HP:0003674	Onset	5611	DNAJC3	OMIM:616192
HP:0003674	Onset	9757	KMT2B	OMIM:617284
HP:0003674	Onset	2318	FLNC	OMIM:617047
HP:0003674	Onset	4015	LOX	OMIM:617168
HP:0003674	Onset	55340	GIMAP5	OMIM:619463
HP:0003674	Onset	8398	PLA2G6	OMIM:612953
HP:0003674	Onset	9531	BAG3	OMIM:612954
HP:0003674	Onset	9563	H6PD	OMIM:604931
HP:0003674	Onset	6338	SCNN1B	OMIM:177200
HP:0003674	Onset	10205	MPZL2	OMIM:618145
HP:0003674	Onset	10519	CIB1	OMIM:618267
HP:0003674	Onset	55213	RCBTB1	OMIM:617175
HP:0003674	Onset	6424	SFRP4	OMIM:265900
HP:0003674	Onset	1053	CEBPE	OMIM:260570
HP:0003674	Onset	55229	PANK4	OMIM:619593
HP:0003674	Onset	64849	SLC13A3	OMIM:618384
HP:0003674	Onset	570	BAAT	OMIM:619232
HP:0003674	Onset	29927	SEC61A1	OMIM:617056
HP:0003674	Onset	920	CD4	OMIM:619238
HP:0003674	Onset	2673	GFPT1	OMIM:610542
HP:0003674	Onset	286	ANK1	OMIM:182900
HP:0003674	Onset	2335	FN1	OMIM:601894
HP:0003674	Onset	6573	SLC19A1	OMIM:601775
HP:0003674	Onset	84868	HAVCR2	OMIM:618398
HP:0003674	Onset	10483	SEC23B	OMIM:224100
HP:0003674	Onset	476	ATP1A1	OMIM:618036
HP:0003674	Onset	5375	PMP2	OMIM:618279
HP:0003674	Onset	60676	PAPPA2	OMIM:619489
HP:0003674	Onset	6566	SLC16A1	OMIM:616095
HP:0003674	Onset	55145	THAP1	OMIM:602629
HP:0003674	Onset	2273	FHL1	OMIM:300718
HP:0003674	Onset	3419	IDH3A	OMIM:619007
HP:0003674	Onset	23516	SLC39A14	OMIM:144755
HP:0003674	Onset	4322	MMP13	OMIM:250400
HP:0003674	Onset	6508	SLC4A3	OMIM:620231
HP:0003674	Onset	801	CALM1	OMIM:614916
HP:0003674	Onset	26092	TOR1AIP1	OMIM:617072
HP:0003674	Onset	81624	DIAPH3	OMIM:609129
HP:0003674	Onset	1497	CTNS	OMIM:219900
HP:0003674	Onset	1497	CTNS	OMIM:219750
HP:0003674	Onset	8651	SOCS1	OMIM:619375
HP:0003674	Onset	85358	SHANK3	OMIM:613950
HP:0003674	Onset	138050	HGSNAT	OMIM:252930
HP:0003674	Onset	256472	TMEM151A	OMIM:620245
HP:0003674	Onset	5354	PLP1	OMIM:312920
HP:0003674	Onset	1719	DHFR	OMIM:613839
HP:0003674	Onset	51778	MYOZ2	OMIM:613838
HP:0003674	Onset	84277	DNAJC30	OMIM:619382
HP:0003674	Onset	403	ARL3	OMIM:618173
HP:0003674	Onset	23193	GANAB	OMIM:600666
HP:0003674	Onset	23279	NUP160	OMIM:618178
HP:0003674	Onset	1604	CD55	OMIM:226300
HP:0003674	Onset	23500	DAAM2	OMIM:619263
HP:0003674	Onset	79902	NUP85	OMIM:618176
HP:0003674	Onset	8910	SGCE	OMIM:159900
HP:0003674	Onset	125170	MIEF2	OMIM:619024
HP:0003674	Onset	55746	NUP133	OMIM:618177
HP:0003674	Onset	6559	SLC12A3	OMIM:263800
HP:0003674	Onset	10749	KIF1C	OMIM:611302
HP:0003674	Onset	90523	MLIP	OMIM:620138
HP:0003674	Onset	1584	CYP11B1	OMIM:103900
HP:0003674	Onset	23224	SYNE2	OMIM:612999
HP:0003674	Onset	9935	MAFB	OMIM:166300
HP:0003674	Onset	5256	PHKA2	OMIM:306000
HP:0003674	Onset	6342	SCP2	OMIM:613724
HP:0003674	Onset	4669	NAGLU	OMIM:252920
HP:0003674	Onset	64858	DCLRE1B	OMIM:620133
HP:0003674	Onset	10299	MARCHF6	OMIM:613608
HP:0003674	Onset	55129	ANO10	OMIM:613728
HP:0003674	Onset	2131	EXT1	OMIM:133700
HP:0003674	Onset	5376	PMP22	OMIM:118300
HP:0003674	Onset	5376	PMP22	OMIM:180800
HP:0003674	Onset	5376	PMP22	OMIM:118220
HP:0003674	Onset	5376	PMP22	OMIM:162500
HP:0003674	Onset	80821	DDHD1	OMIM:609340
HP:0003674	Onset	5009	OTC	OMIM:311250
HP:0003674	Onset	785	CACNB4	OMIM:613855
HP:0003674	Onset	785	CACNB4	OMIM:607682
HP:0003674	Onset	55851	PSENEN	OMIM:613736
HP:0003674	Onset	5894	RAF1	OMIM:615916
HP:0003674	Onset	130557	ZNF513	OMIM:613617
HP:0003674	Onset	5293	PIK3CD	OMIM:619281
HP:0003674	Onset	7879	RAB7A	OMIM:600882
HP:0003674	Onset	538	ATP7A	OMIM:300489
HP:0003674	Onset	843	CASP10	OMIM:603909
HP:0003674	Onset	79947	DHDDS	OMIM:613861
HP:0003674	Onset	1135	CHRNA2	OMIM:610353
HP:0003674	Onset	55788	LMBRD1	OMIM:277380
HP:0003674	Onset	9128	PRPF4	OMIM:615922
HP:0003674	Onset	50940	PDE11A	OMIM:610475
HP:0003674	Onset	55651	NHP2	OMIM:613987
HP:0003674	Onset	1824	DSC2	OMIM:610476
HP:0003674	Onset	54476	RNF216	OMIM:212840
HP:0003674	Onset	84634	KISS1R	OMIM:614837
HP:0003674	Onset	7015	TERT	OMIM:613989
HP:0003674	Onset	58528	RRAGD	OMIM:620152
HP:0003674	Onset	51204	TACO1	OMIM:619052
HP:0003674	Onset	7827	NPHS2	OMIM:600995
HP:0003674	Onset	5649	RELN	OMIM:600512
HP:0003674	Onset	64780	MICAL1	OMIM:600512
HP:0003674	Onset	9211	LGI1	OMIM:600512
HP:0003674	Onset	64601	VPS16	OMIM:619291
HP:0003674	Onset	6452	SH3BP2	OMIM:118400
HP:0003674	Onset	1427	CRYGS	OMIM:116100
HP:0003674	Onset	116228	COX20	OMIM:619054
HP:0003674	Onset	6521	SLC4A1	OMIM:179800
HP:0003674	Onset	26277	TINF2	OMIM:613990
HP:0003674	Onset	64207	IRF2BPL	OMIM:618088
HP:0003674	Onset	7040	TGFB1	OMIM:131300
HP:0003674	Onset	3988	LIPA	OMIM:278000
HP:0003674	Onset	353	APRT	OMIM:614723
HP:0003674	Onset	5624	PROC	OMIM:612304
HP:0003674	Onset	3814	KISS1	OMIM:614842
HP:0003674	Onset	10939	AFG3L2	OMIM:610246
HP:0003674	Onset	91624	NEXN	OMIM:613876
HP:0003674	Onset	5573	PRKAR1A	OMIM:610489
HP:0003674	Onset	3778	KCNMA1	OMIM:609446
HP:0003674	Onset	6843	VAMP1	OMIM:108600
HP:0003674	Onset	256297	PTF1A	OMIM:615935
HP:0003674	Onset	29967	LRP12	OMIM:164310
HP:0003674	Onset	64087	MCCC2	OMIM:210210
HP:0003674	Onset	1854	DUT	OMIM:620044
HP:0003674	Onset	22	ABCB7	OMIM:301310
HP:0003674	Onset	100303755	PET117	OMIM:619063
HP:0003674	Onset	57697	FANCM	OMIM:618096
HP:0003674	Onset	2720	GLB1	OMIM:253010
HP:0003674	Onset	54805	CNNM2	OMIM:613882
HP:0003674	Onset	9517	SPTLC2	OMIM:613640
HP:0003674	Onset	26090	ABHD12	OMIM:612674
HP:0003674	Onset	55775	TDP1	OMIM:607250
HP:0003674	Onset	2492	FSHR	OMIM:233300
HP:0003674	Onset	1729	DIAPH1	OMIM:124900
HP:0003674	Onset	1600	DAB1	OMIM:615945
HP:0003674	Onset	388551	CEACAM16	OMIM:614614
HP:0003674	Onset	6399	TRAPPC2	OMIM:313400
HP:0003674	Onset	56922	MCCC1	OMIM:210200
HP:0003674	Onset	9096	TBX18	OMIM:143400
HP:0003674	Onset	144165	PRICKLE1	OMIM:612437
HP:0003674	Onset	283375	SLC39A5	OMIM:615946
HP:0003674	Onset	79152	FA2H	OMIM:612319
HP:0003674	Onset	113278	SLC52A3	OMIM:211530
HP:0003674	Onset	80216	ALPK1	OMIM:614979
HP:0003674	Onset	22953	P2RX2	OMIM:608224
HP:0003674	Onset	7915	ALDH5A1	OMIM:271980
HP:0003674	Onset	84138	SLC7A6OS	OMIM:619191
HP:0003674	Onset	4607	MYBPC3	OMIM:115197
HP:0003674	Onset	114548	NLRP3	OMIM:191900
HP:0003674	Onset	114548	NLRP3	OMIM:148200
HP:0003674	Onset	6774	STAT3	OMIM:615952
HP:0003674	Onset	5149	PDE6H	OMIM:610024
HP:0003674	Onset	90624	LYRM7	OMIM:615838
HP:0003674	Onset	5978	REST	OMIM:616806
HP:0003674	Onset	5978	REST	OMIM:617626
HP:0003674	Onset	375748	ERCC6L2	OMIM:615715
HP:0003674	Onset	80704	SLC19A3	OMIM:607483
HP:0003674	Onset	80025	PANK2	OMIM:234200
HP:0003674	Onset	80025	PANK2	OMIM:607236
HP:0003674	Onset	23175	LPIN1	OMIM:268200
HP:0003674	Onset	3251	HPRT1	OMIM:300322
HP:0003674	Onset	190	NR0B1	OMIM:300200
HP:0003674	Onset	3208	HPCA	OMIM:224500
HP:0003674	Onset	5428	POLG	OMIM:613662
HP:0003674	Onset	5428	POLG	OMIM:607459
HP:0003674	Onset	5428	POLG	OMIM:603041
HP:0003674	Onset	2512	FTL	OMIM:615604
HP:0003674	Onset	11149	BVES	OMIM:616812
HP:0003674	Onset	1811	SLC26A3	OMIM:214700
HP:0003674	Onset	29110	TBK1	OMIM:617900
HP:0003674	Onset	7274	TTPA	OMIM:277460
HP:0003674	Onset	112476	PRRT2	OMIM:128200
HP:0003674	Onset	112476	PRRT2	OMIM:602066
HP:0003674	Onset	5191	PEX7	OMIM:614879
HP:0003674	Onset	6742	SSBP1	OMIM:165510
HP:0003674	Onset	7234	TRU-TCA1-1	OMIM:620198
HP:0003674	Onset	7369	UMOD	OMIM:162000
HP:0003674	Onset	5230	PGK1	OMIM:300653
HP:0003674	Onset	2717	GLA	OMIM:301500
HP:0003674	Onset	10002	NR2E3	OMIM:611131
HP:0003674	Onset	445	ASS1	OMIM:215700
HP:0003674	Onset	1535	CYBA	OMIM:233690
HP:0003674	Onset	57704	GBA2	OMIM:614409
HP:0003674	Onset	29119	CTNNA3	OMIM:615616
HP:0003674	Onset	3752	KCND3	OMIM:607346
HP:0003674	Onset	7045	TGFBI	OMIM:121820
HP:0003674	Onset	7045	TGFBI	OMIM:607541
HP:0003674	Onset	26353	HSPB8	OMIM:608673
HP:0003674	Onset	23479	ISCU	OMIM:255125
HP:0003674	Onset	4313	MMP2	OMIM:259600
HP:0003674	Onset	56652	TWNK	OMIM:607459
HP:0003674	Onset	51004	COQ6	OMIM:614650
HP:0003674	Onset	10457	GPNMB	OMIM:617920
HP:0003674	Onset	51308	REEP2	OMIM:615625
HP:0003674	Onset	22858	CILK1	OMIM:617924
HP:0003674	Onset	57165	GJC2	OMIM:613206
HP:0003674	Onset	57165	GJC2	OMIM:613480
HP:0003674	Onset	3371	TNC	OMIM:615629
HP:0003674	Onset	10382	TUBB4A	OMIM:128101
HP:0003674	Onset	23534	TNPO3	OMIM:608423
HP:0003674	Onset	113457	TUBA3D	OMIM:617928
HP:0003674	Onset	6323	SCN1A	OMIM:609634
HP:0003674	Onset	57094	CPA6	OMIM:614417
HP:0003674	Onset	3736	KCNA1	OMIM:160120
HP:0003674	Onset	201294	UNC13D	OMIM:608898
HP:0003674	Onset	1121	CHM	OMIM:303100
HP:0003674	Onset	631	BFSP1	OMIM:611391
HP:0003674	Onset	25923	ATL3	OMIM:615632
HP:0003674	Onset	4688	NCF2	OMIM:233710
HP:0003674	Onset	114327	EFHC1	OMIM:254770
HP:0003674	Onset	114327	EFHC1	OMIM:607631
HP:0003674	Onset	3290	HSD11B1	OMIM:614662
HP:0003674	Onset	1776	DNASE1L3	OMIM:614420
HP:0003674	Onset	6513	SLC2A1	OMIM:612126
HP:0003674	Onset	11133	KPTN	OMIM:615637
HP:0003674	Onset	4803	NGF	OMIM:608654
HP:0003674	Onset	4747	NEFL	OMIM:607684
HP:0003674	Onset	4747	NEFL	OMIM:607734
HP:0003674	Onset	4747	NEFL	OMIM:617882
HP:0003674	Onset	2200	FBN1	OMIM:129600
HP:0003674	Onset	54768	HYDIN	OMIM:608647
HP:0003674	Onset	50939	IMPG2	OMIM:613581
HP:0003674	Onset	1829	DSG2	OMIM:610193
HP:0003674	Onset	440275	EIF2AK4	OMIM:234810
HP:0003674	Onset	137682	NDUFAF6	OMIM:618913
HP:0003674	Onset	6900	CNTN2	OMIM:615400
HP:0003674	Onset	10758	TRAF3IP2	OMIM:615527
HP:0003674	Onset	6443	SGCB	OMIM:604286
HP:0003674	Onset	9829	DNAJC6	OMIM:615528
HP:0003674	Onset	3643	INSR	OMIM:609968
HP:0003674	Onset	727676	SNORD118	OMIM:614561
HP:0003674	Onset	6578	SLCO2A1	OMIM:614441
HP:0003674	Onset	7128	TNFAIP3	OMIM:616744
HP:0003674	Onset	10560	SLC19A2	OMIM:249270
HP:0003674	Onset	29893	PSMC3IP	OMIM:614324
HP:0003674	Onset	2058	EPRS1	OMIM:617951
HP:0003674	Onset	102	ADAM10	OMIM:615537
HP:0003674	Onset	1000	CDH2	OMIM:618920
HP:0003674	Onset	54463	RETREG1	OMIM:613115
HP:0003674	Onset	5837	PYGM	OMIM:232600
HP:0003674	Onset	26525	IL36RN	OMIM:614204
HP:0003674	Onset	4634	MYL3	OMIM:608751
HP:0003674	Onset	2232	FDXR	OMIM:617717
HP:0003674	Onset	3759	KCNJ2	OMIM:170390
HP:0003674	Onset	4361	MRE11	OMIM:604391
HP:0003674	Onset	80208	SPG11	OMIM:602099
HP:0003674	Onset	80208	SPG11	OMIM:604360
HP:0003674	Onset	80208	SPG11	OMIM:616668
HP:0003674	Onset	23400	ATP13A2	OMIM:606693
HP:0003674	Onset	9420	CYP7B1	OMIM:270800
HP:0003674	Onset	7046	TGFBR1	OMIM:132800
HP:0003674	Onset	3868	KRT16	OMIM:613000
HP:0003674	Onset	55857	KIZ	OMIM:615780
HP:0003674	Onset	7098	TLR3	OMIM:613002
HP:0003674	Onset	64423	INF2	OMIM:614455
HP:0003674	Onset	7289	TULP3	OMIM:619902
HP:0003674	Onset	7134	TNNC1	OMIM:613243
HP:0003674	Onset	8884	SLC5A6	OMIM:619903
HP:0003674	Onset	7453	WARS1	OMIM:617721
HP:0003674	Onset	23152	CIC	OMIM:617600
HP:0003674	Onset	149461	CLDN19	OMIM:248190
HP:0003674	Onset	10320	IKZF1	OMIM:616873
HP:0003674	Onset	2224	FDPS	OMIM:616631
HP:0003674	Onset	88	ACTN2	OMIM:612158
HP:0003674	Onset	653361	NCF1	OMIM:233700
HP:0003674	Onset	6444	SGCD	OMIM:606685
HP:0003674	Onset	10568	SLC34A2	OMIM:265100
HP:0003674	Onset	930	CD19	OMIM:613493
HP:0003674	Onset	3702	ITK	OMIM:613011
HP:0003674	Onset	2588	GALNS	OMIM:253000
HP:0003674	Onset	199221	DZIP1L	OMIM:617610
HP:0003674	Onset	5205	ATP8B1	OMIM:211600
HP:0003674	Onset	1890	TYMP	OMIM:603041
HP:0003674	Onset	7043	TGFB3	OMIM:107970
HP:0003674	Onset	1495	CTNNA1	OMIM:608970
HP:0003674	Onset	11235	PDCD10	OMIM:603285
HP:0003674	Onset	7507	XPA	OMIM:278700
HP:0003674	Onset	5468	PPARG	OMIM:604367
HP:0003674	Onset	3075	CFH	OMIM:609814
HP:0003674	Onset	51816	ADA2	OMIM:615688
HP:0003674	Onset	10319	LAMC3	OMIM:614115
HP:0003674	Onset	3661	IRF3	OMIM:616532
HP:0003674	Onset	1293	COL6A3	OMIM:616411
HP:0003674	Onset	51364	ZMYND10	OMIM:615444
HP:0003674	Onset	219285	SAMD9L	OMIM:619806
HP:0003674	Onset	5261	PHKG2	OMIM:613027
HP:0003674	Onset	5294	PIK3CG	OMIM:619802
HP:0003674	Onset	9516	LITAF	OMIM:601098
HP:0003674	Onset	4131	MAP1B	OMIM:619808
HP:0003674	Onset	29929	ALG6	OMIM:603147
HP:0003674	Onset	3094	HINT1	OMIM:137200
HP:0003674	Onset	24	ABCA4	OMIM:604116
HP:0003674	Onset	3920	LAMP2	OMIM:300257
HP:0003674	Onset	6529	SLC6A1	OMIM:616421
HP:0003674	Onset	79934	COQ8B	OMIM:615573
HP:0003674	Onset	5538	PPT1	OMIM:256730
HP:0003674	Onset	8575	PRKRA	OMIM:612067
HP:0003674	Onset	3454	IFNAR1	OMIM:619935
HP:0003674	Onset	1203	CLN5	OMIM:256731
HP:0003674	Onset	23250	ATP11A	OMIM:619810
HP:0003674	Onset	79784	MYH14	OMIM:614369
HP:0003674	Onset	23533	PIK3R5	OMIM:615217
HP:0003674	Onset	8086	AAAS	OMIM:231550
HP:0003674	Onset	8139	GAN	OMIM:256850
HP:0003674	Onset	2639	GCDH	OMIM:231670
HP:0003674	Onset	6609	SMPD1	OMIM:607616
HP:0003674	Onset	846	CASR	OMIM:601198
HP:0003674	Onset	4093	SMAD9	OMIM:615342
HP:0003674	Onset	22978	NT5C2	OMIM:613162
HP:0003674	Onset	79587	CARS2	OMIM:616672
HP:0003674	Onset	7137	TNNI3	OMIM:613286
HP:0003674	Onset	4643	MYO1E	OMIM:614131
HP:0003674	Onset	10654	PMVK	OMIM:175800
HP:0003674	Onset	3777	KCNK3	OMIM:615344
HP:0003674	Onset	55367	PIDD1	OMIM:619827
HP:0003674	Onset	1297	COL9A1	OMIM:614135
HP:0003674	Onset	6786	STIM1	OMIM:160565
HP:0003674	Onset	285489	DOK7	OMIM:254300
HP:0003674	Onset	3689	ITGB2	OMIM:116920
HP:0003674	Onset	6555	SLC10A2	OMIM:613291
HP:0003674	Onset	51399	TRAPPC4	OMIM:618741
HP:0003674	Onset	57128	LYRM4	OMIM:615595
HP:0003674	Onset	396	ARHGDIA	OMIM:615244
HP:0003674	Onset	387787	LIPT2	OMIM:617668
HP:0003674	Onset	9200	HACD1	OMIM:619967
HP:0003674	Onset	85465	SELENOI	OMIM:618768
HP:0003674	Onset	790955	UQCC3	OMIM:616111
HP:0003674	Onset	11154	AP4S1	OMIM:614067
HP:0003674	Onset	8021	NUP214	OMIM:618426
HP:0003674	Onset	6523	SLC5A1	OMIM:606824
HP:0003674	Onset	54941	RNF125	OMIM:616260
HP:0003674	Onset	1585	CYP11B2	OMIM:610600
HP:0003674	Onset	1585	CYP11B2	OMIM:203400
HP:0003674	Onset	6595	SMARCA2	OMIM:601358
HP:0003674	Onset	345643	MCIDAS	OMIM:618695
HP:0003674	Onset	93233	ODAD1	OMIM:615067
HP:0003674	Onset	27429	HTRA2	OMIM:617248
HP:0003674	Onset	139212	DNAAF6	OMIM:300991
HP:0003674	Onset	359	AQP2	OMIM:125800
HP:0003674	Onset	10102	TSFM	OMIM:610505
HP:0003674	Onset	128869	PIGU	OMIM:618590
HP:0003674	Onset	55610	VPS50	OMIM:619685
HP:0003674	Onset	23114	NFASC	OMIM:618356
HP:0003674	Onset	126328	NDUFA11	OMIM:618236
HP:0003674	Onset	6809	STX3	OMIM:619446
HP:0003674	Onset	4726	NDUFS6	OMIM:618232
HP:0003674	Onset	5934	RBL2	OMIM:619690
HP:0003674	Onset	3938	LCT	OMIM:223000
HP:0003674	Onset	4704	NDUFA9	OMIM:618247
HP:0003674	Onset	7019	TFAM	OMIM:617156
HP:0003674	Onset	6718	AKR1D1	OMIM:235555
HP:0003674	Onset	439	GET3	OMIM:620203
HP:0003674	Onset	6821	SUOX	OMIM:272300
HP:0003674	Onset	23258	DENND5A	OMIM:617281
HP:0003674	Onset	7161	TP73	OMIM:619466
HP:0003674	Onset	3674	ITGA2B	OMIM:273800
HP:0003674	Onset	435	ASL	OMIM:207900
HP:0003674	Onset	5019	OXCT1	OMIM:245050
HP:0003674	Onset	1041	CDSN	OMIM:270300
HP:0003674	Onset	123264	SLC51B	OMIM:619481
HP:0003674	Onset	283446	MYO1H	OMIM:619482
HP:0003674	Onset	285590	SH3PXD2B	OMIM:249420
HP:0003674	Onset	374354	NHLRC2	OMIM:618278
HP:0003674	Onset	10660	LBX1	OMIM:619483
HP:0003674	Onset	3557	IL1RN	OMIM:612852
HP:0003674	Onset	539	ATP5PO	OMIM:620359
HP:0003674	Onset	55806	HR	OMIM:203655
HP:0003674	Onset	6554	SLC10A1	OMIM:619256
HP:0003674	Onset	2203	FBP1	OMIM:229700
HP:0003674	Onset	3295	HSD17B4	OMIM:261515
HP:0003674	Onset	129285	PPP1R21	OMIM:619383
HP:0003674	Onset	3690	ITGB3	OMIM:619267
HP:0003674	Onset	1373	CPS1	OMIM:237300
HP:0003674	Onset	284111	SLC13A5	OMIM:615905
HP:0003674	Onset	83483	PLVAP	OMIM:618183
HP:0003674	Onset	85016	CFAP300	OMIM:618063
HP:0003674	Onset	83538	ODAD4	OMIM:617092
HP:0003674	Onset	56916	SMARCAD1	OMIM:129200
HP:0003674	Onset	501	ALDH7A1	OMIM:266100
HP:0003674	Onset	3141	HLCS	OMIM:253270
HP:0003674	Onset	5015	OTX2	OMIM:613986
HP:0003674	Onset	9915	ARNT2	OMIM:615926
HP:0003674	Onset	79048	SECISBP2	OMIM:609698
HP:0003674	Onset	6439	SFTPB	OMIM:265120
HP:0003674	Onset	6005	RHAG	OMIM:185000
HP:0003674	Onset	5699	PSMB10	OMIM:619175
HP:0003674	Onset	92579	G6PC3	OMIM:612541
HP:0003674	Onset	132158	GLYCTK	OMIM:220120
HP:0003674	Onset	6999	TDO2	OMIM:600627
HP:0003674	Onset	50674	NEUROG3	OMIM:610370
HP:0003674	Onset	84300	UQCC2	OMIM:615824
HP:0003674	Onset	4338	MOCS2	OMIM:252160
HP:0003674	Onset	63894	VIPAS39	OMIM:613404
HP:0003674	Onset	9152	SLC6A5	OMIM:614618
HP:0003674	Onset	5190	PEX6	OMIM:614862
HP:0003674	Onset	64446	DNAI2	OMIM:612444
HP:0003674	Onset	79751	SLC25A22	OMIM:609304
HP:0003674	Onset	4306	NR3C2	OMIM:177735
HP:0003674	Onset	5627	PROS1	OMIM:614514
HP:0003674	Onset	7355	SLC35A2	OMIM:300896
HP:0003674	Onset	1634	DCN	OMIM:610048
HP:0003674	Onset	8694	DGAT1	OMIM:615863
HP:0003674	Onset	57017	COQ9	OMIM:614654
HP:0003674	Onset	57107	PDSS2	OMIM:614652
HP:0003674	Onset	3329	HSPD1	OMIM:612233
HP:0003674	Onset	54704	PDP1	OMIM:608782
HP:0003674	Onset	7167	TPI1	OMIM:615512
HP:0003674	Onset	10525	HYOU1	OMIM:233600
HP:0003674	Onset	54931	TRMT10C	OMIM:616974
HP:0003674	Onset	169792	GLIS3	OMIM:610199
HP:0003674	Onset	3033	HADH	OMIM:609975
HP:0003674	Onset	4594	MMUT	OMIM:251000
HP:0003674	Onset	8471	IRS4	OMIM:301035
HP:0003674	Onset	3758	KCNJ1	OMIM:241200
HP:0003674	Onset	5406	PNLIP	OMIM:614338
HP:0003674	Onset	7138	TNNT1	OMIM:605355
HP:0003674	Onset	326625	MMAB	OMIM:251110
HP:0003674	Onset	80270	HSD3B7	OMIM:607765
HP:0003674	Onset	11019	LIAS	OMIM:614462
HP:0003674	Onset	94137	RP1L1	OMIM:618826
HP:0003674	Onset	200894	ARL13B	OMIM:612291
HP:0003674	Onset	6337	SCNN1A	OMIM:264350
HP:0003674	Onset	9076	CLDN1	OMIM:607626
HP:0003674	Onset	95	ACY1	OMIM:609924
HP:0003674	Onset	18	ABAT	OMIM:613163
HP:0003674	Onset	83544	DNAL1	OMIM:614017
HP:0003674	Onset	10112	KIF20A	OMIM:619433
HP:0003674	Onset	55388	MCM10	OMIM:619313
HP:0003674	Onset	201595	STT3B	OMIM:615597
HP:0003674	Onset	5885	RAD21	OMIM:614701
HP:0003674	Onset	5396	PRRX1	OMIM:202650
HP:0003674	Onset	23363	OBSL1	OMIM:612921
HP:0003674	Onset	1062	CENPE	OMIM:616051
HP:0003674	Onset	55033	FKBP14	OMIM:614557
HP:0003674	Onset	10683	DLL3	OMIM:277300
HP:0003674	Onset	145873	MESP2	OMIM:277300
HP:0003674	Onset	64175	P3H1	OMIM:610915
HP:0003674	Onset	1146	CHRNG	OMIM:265000
HP:0003674	Onset	11274	USP18	OMIM:617397
HP:0003674	Onset	10606	PAICS	OMIM:619859
HP:0003674	Onset	64131	XYLT1	OMIM:615777
HP:0003674	Onset	6045	RNF2	OMIM:619460
HP:0003674	Onset	6557	SLC12A1	OMIM:601678
HP:0003674	Onset	80776	B9D2	OMIM:614175
HP:0003674	Onset	8985	PLOD3	OMIM:612394
HP:0003674	Onset	51241	COX16	OMIM:619355
HP:0003674	Onset	4629	MYH11	OMIM:619351
HP:0003674	Onset	3800	KIF5C	OMIM:615282
HP:0003674	Onset	25802	LMOD1	OMIM:619362
HP:0003674	Onset	10293	TRAIP	OMIM:616777
HP:0003674	Onset	163175	LGI4	OMIM:617468
HP:0003674	Onset	23169	SLC35D1	OMIM:269250
HP:0003674	Onset	23007	PLCH1	OMIM:619895
HP:0003674	Onset	2193	FARSA	OMIM:619013
HP:0003674	Onset	2146	EZH2	OMIM:277590
HP:0003674	Onset	5557	PRIM1	OMIM:620005
HP:0003674	Onset	7473	WNT3	OMIM:273395
HP:0003674	Onset	7546	ZIC2	OMIM:609637
HP:0003674	Onset	6654	SOS1	OMIM:610733
HP:0003674	Onset	282996	RBM20	OMIM:613172
HP:0003674	Onset	144132	DNHD1	OMIM:619712
HP:0003674	Onset	148738	HJV	OMIM:602390
HP:0003674	Onset	308	ANXA5	OMIM:614391
HP:0003674	Onset	8722	CTSF	OMIM:615362
HP:0003674	Onset	10388	SYCP2	OMIM:258150
HP:0003674	Onset	8632	DNAH17	OMIM:618643
HP:0003674	Onset	23370	ARHGEF18	OMIM:617433
HP:0003674	Onset	84173	ELMOD3	OMIM:619500
HP:0003674	Onset	199223	TTC21A	OMIM:618429
HP:0003674	Onset	89869	PLCZ1	OMIM:617214
HP:0003674	Onset	54456	MOV10L1	OMIM:619878
HP:0003674	Onset	55823	VPS11	OMIM:619637
HP:0003674	Onset	9049	AIP	OMIM:102200
HP:0003674	Onset	150365	MEI1	OMIM:618431
HP:0003674	Onset	431705	ASTL	OMIM:619643
HP:0003674	Onset	154197	PNLDC1	OMIM:619528
HP:0003674	Onset	145645	TERB2	OMIM:619645
HP:0003674	Onset	283847	TERB1	OMIM:619646
HP:0003674	Onset	55779	CFAP44	OMIM:617593
HP:0003674	Onset	80217	CFAP43	OMIM:617592
HP:0003674	Onset	7867	MAPKAPK3	OMIM:617111
HP:0003674	Onset	93953	GCNA	OMIM:301077
HP:0003674	Onset	353116	RILPL1	OMIM:619790
HP:0003674	Onset	199713	NLRP7	OMIM:231090
HP:0003674	Onset	1730	DIAPH2	OMIM:300511
HP:0003674	Onset	84074	QRICH2	OMIM:618341
HP:0003674	Onset	335	APOA1	OMIM:618463
HP:0003674	Onset	11055	ZPBP	OMIM:619799
HP:0003674	Onset	10049	DNAJB6	OMIM:603511
HP:0003674	Onset	122402	TDRD9	OMIM:618110
HP:0003674	Onset	140801	RPL10L	OMIM:619689
HP:0003674	Onset	286151	FBXO43	OMIM:619696
HP:0003674	Onset	71	ACTG1	OMIM:604717
HP:0003674	Onset	5318	PKP2	OMIM:609040
HP:0003674	Onset	4635	MYL4	OMIM:617280
HP:0003674	Onset	6795	AURKC	OMIM:243060
HP:0003674	Onset	2661	GDF9	OMIM:618014
HP:0003674	Onset	10149	ADGRG2	OMIM:300985
HP:0003674	Onset	7225	TRPC6	OMIM:603965
HP:0003674	Onset	8468	FKBP6	OMIM:620103
HP:0003674	Onset	140732	SUN5	OMIM:617187
HP:0003674	Onset	7078	TIMP3	OMIM:136900
HP:0003674	Onset	144406	CFAP251	OMIM:618152
HP:0003674	Onset	79983	POF1B	OMIM:300604
HP:0003674	Onset	401024	FSIP2	OMIM:618153
HP:0003674	Onset	375307	CATIP	OMIM:619379
HP:0003674	Onset	283417	DPY19L2	OMIM:613958
HP:0003674	Onset	1371	CPOX	OMIM:121300
HP:0003674	Onset	200162	SPAG17	OMIM:619380
HP:0003674	Onset	2034	EPAS1	OMIM:611783
HP:0003674	Onset	117144	CATSPER1	OMIM:612997
HP:0003674	Onset	124404	SEPTIN12	OMIM:614822
HP:0003674	Onset	24148	PRPF6	OMIM:613983
HP:0003674	Onset	5498	PPOX	OMIM:176200
HP:0003674	Onset	678	ZFP36L2	OMIM:620154
HP:0003674	Onset	57158	JPH2	OMIM:613873
HP:0003674	Onset	5346	PLIN1	OMIM:613877
HP:0003674	Onset	80726	IQCN	OMIM:620170
HP:0003674	Onset	6691	SPINK2	OMIM:618091
HP:0003674	Onset	675	BRCA2	OMIM:612555
HP:0003674	Onset	57055	DAZ2	OMIM:415000
HP:0003674	Onset	5940	RBMY1A1	OMIM:415000
HP:0003674	Onset	9082	XKRY	OMIM:415000
HP:0003674	Onset	57054	DAZ3	OMIM:415000
HP:0003674	Onset	1617	DAZ1	OMIM:415000
HP:0003674	Onset	8284	KDM5D	OMIM:415000
HP:0003674	Onset	442862	PRY2	OMIM:415000
HP:0003674	Onset	9081	PRY	OMIM:415000
HP:0003674	Onset	140032	RPS4Y2	OMIM:415000
HP:0003674	Onset	9426	CDY2A	OMIM:415000
HP:0003674	Onset	9083	BPY2	OMIM:415000
HP:0003674	Onset	86614	HSFY1	OMIM:415000
HP:0003674	Onset	9084	VCY	OMIM:415000
HP:0003674	Onset	8287	USP9Y	OMIM:415000
HP:0003674	Onset	9085	CDY1	OMIM:415000
HP:0003674	Onset	8653	DDX3Y	OMIM:415000
HP:0003674	Onset	4438	MSH4	OMIM:108420
HP:0003674	Onset	4438	MSH4	OMIM:619938
HP:0003674	Onset	56159	TEX11	OMIM:309120
HP:0003674	Onset	2908	NR3C1	OMIM:615962
HP:0003674	Onset	6875	TAF4B	OMIM:615841
HP:0003674	Onset	84225	ZMYND15	OMIM:615842
HP:0003674	Onset	164045	HFM1	OMIM:615724
HP:0003674	Onset	10734	STAG3	OMIM:615723
HP:0003674	Onset	2488	FSHB	OMIM:229070
HP:0003674	Onset	10253	SPRY2	OMIM:616818
HP:0003674	Onset	157855	KCNU1	OMIM:620196
HP:0003674	Onset	91057	CCDC34	OMIM:620084
HP:0003674	Onset	219736	STOX1	OMIM:609404
HP:0003674	Onset	3300	DNAJB2	OMIM:614881
HP:0003674	Onset	57817	HAMP	OMIM:613313
HP:0003674	Onset	50511	SYCP3	OMIM:270960
HP:0003674	Onset	80331	DNAJC5	OMIM:162350
HP:0003674	Onset	3991	LIPE	OMIM:615980
HP:0003674	Onset	64788	LMF1	OMIM:246650
HP:0003674	Onset	93426	SYCE1	OMIM:616950
HP:0003674	Onset	23600	AMACR	OMIM:614307
HP:0003674	Onset	83552	MFRP	OMIM:611040
HP:0003674	Onset	56155	TEX14	OMIM:617707
HP:0003674	Onset	254528	MEIOB	OMIM:617706
HP:0003674	Onset	128338	DRAM2	OMIM:616502
HP:0003674	Onset	7784	ZP3	OMIM:617712
HP:0003674	Onset	22917	ZP1	OMIM:615774
HP:0003674	Onset	80705	TSGA10	OMIM:617961
HP:0003674	Onset	56154	TEX15	OMIM:617960
HP:0003674	Onset	122481	AK7	OMIM:617965
HP:0003674	Onset	80736	SLC44A4	OMIM:617606
HP:0003674	Onset	10755	GIPC1	OMIM:618940
HP:0003674	Onset	5618	PRLR	OMIM:615555
HP:0003674	Onset	23568	ARL2BP	OMIM:615434
HP:0003674	Onset	8988	HSPB3	OMIM:613376
HP:0003674	Onset	640	BLK	OMIM:613375
HP:0003674	Onset	2548	GAA	OMIM:232300
HP:0003674	Onset	1056	CEL	OMIM:609812
HP:0003674	Onset	84660	CCDC62	OMIM:619803
HP:0003674	Onset	197135	PATL2	OMIM:617743
HP:0003674	Onset	151254	C2CD6	OMIM:619805
HP:0003674	Onset	57570	TRMT5	OMIM:616539
HP:0003674	Onset	494551	WEE2	OMIM:617996
HP:0003674	Onset	116369	SLC26A8	OMIM:606766
HP:0003674	Onset	4340	MOG	OMIM:614250
HP:0003674	Onset	26249	KLHL3	OMIM:614495
HP:0003674	Onset	7305	TYROBP	OMIM:221770
HP:0003674	Onset	199720	GGN	OMIM:619826
HP:0003674	Onset	676	BRDT	OMIM:617644
HP:0003674	Onset	158401	SHOC1	OMIM:619949
HP:0003674	Onset	5161	PDHA2	OMIM:619828
HP:0003674	Onset	5184	PEPD	OMIM:170100
HP:0003674	Onset	56259	CTNNBL1	OMIM:619846
HP:0003674	Onset	84146	ZNF644	OMIM:614167
HP:0003674	Onset	3665	IRF7	OMIM:616345
HP:0003674	Onset	51109	RDH11	OMIM:616108
HP:0003674	Onset	1594	CYP27B1	OMIM:264700
HP:0003674	Onset	80739	MPIG6B	OMIM:617441
HP:0003674	Onset	23086	EXPH5	OMIM:615028
HP:0003674	Onset	51702	PADI3	OMIM:191480
HP:0003674	Onset	11081	KERA	OMIM:217300
HP:0003674	Onset	5146	PDE6C	OMIM:613093
HP:0003674	Onset	9895	TECPR2	OMIM:615031
HP:0003674	Onset	3590	IL11RA	OMIM:614188
HP:0003674	Onset	23259	DDHD2	OMIM:615033
HP:0003674	Onset	3026	HABP2	OMIM:188050
HP:0003674	Onset	4524	MTHFR	OMIM:188050
HP:0003674	Onset	399	RHOH	OMIM:618307
HP:0003674	Onset	144811	LACC1	OMIM:618795
HP:0003674	Onset	3579	CXCR2	OMIM:619407
HP:0003674	Onset	487	ATP2A1	OMIM:601003
HP:0003674	Onset	5966	REL	OMIM:619652
HP:0003674	Onset	326	AIRE	OMIM:240300
HP:0003674	Onset	197258	FCSK	OMIM:618324
HP:0003674	Onset	345193	LRIT3	OMIM:615058
HP:0003674	Onset	84131	CEP78	OMIM:617236
HP:0003674	Onset	10459	MAD2L2	OMIM:617243
HP:0003674	Onset	212	ALAS2	OMIM:300751
HP:0003674	Onset	212	ALAS2	OMIM:300752
HP:0003674	Onset	6448	SGSH	OMIM:252900
HP:0003674	Onset	7062	TCHH	OMIM:617252
HP:0003674	Onset	9842	PLEKHM1	OMIM:618107
HP:0003674	Onset	10397	NDRG1	OMIM:601455
HP:0003674	Onset	55182	RNF220	OMIM:619688
HP:0003674	Onset	8492	PRSS12	OMIM:249500
HP:0003674	Onset	331	XIAP	OMIM:308240
HP:0003674	Onset	4068	SH2D1A	OMIM:308240
HP:0003674	Onset	153642	ARSK	OMIM:619698
HP:0003674	Onset	513	ATP5F1D	OMIM:618120
HP:0003674	Onset	64856	VWA1	OMIM:619216
HP:0003674	Onset	65260	COA7	OMIM:618387
HP:0003674	Onset	55697	VAC14	OMIM:617054
HP:0003674	Onset	2155	F7	OMIM:227500
HP:0003674	Onset	134218	DNAJC21	OMIM:617052
HP:0003674	Onset	4070	TACSTD2	OMIM:204870
HP:0003674	Onset	2690	GHR	OMIM:262500
HP:0003674	Onset	643418	LIPN	OMIM:613943
HP:0003674	Onset	4773	NFATC2	OMIM:620232
HP:0003674	Onset	6010	RHO	OMIM:610445
HP:0003674	Onset	6010	RHO	OMIM:613731
HP:0003674	Onset	60506	NYX	OMIM:310500
HP:0003674	Onset	875	CBS	OMIM:236200
HP:0003674	Onset	124093	CCDC78	OMIM:614807
HP:0003674	Onset	54936	ADPRS	OMIM:618170
HP:0003674	Onset	284361	EMC10	OMIM:619264
HP:0003674	Onset	25793	FBXO7	OMIM:260300
HP:0003674	Onset	4689	NCF4	OMIM:613960
HP:0003674	Onset	7424	VEGFC	OMIM:615907
HP:0003674	Onset	79083	MLPH	OMIM:609227
HP:0003674	Onset	10461	MERTK	OMIM:613862
HP:0003674	Onset	2483	FRG1	OMIM:158900
HP:0003674	Onset	64324	NSD1	OMIM:117550
HP:0003674	Onset	3952	LEP	OMIM:614962
HP:0003674	Onset	1678	TIMM8A	OMIM:304700
HP:0003674	Onset	80856	LNPK	OMIM:618090
HP:0003674	Onset	7374	UNG	OMIM:608106
HP:0003674	Onset	633	BGN	OMIM:300106
HP:0003674	Onset	3425	IDUA	OMIM:607015
HP:0003674	Onset	3035	HARS1	OMIM:614504
HP:0003674	Onset	643226	GRXCR2	OMIM:615837
HP:0003674	Onset	4784	NFIX	OMIM:614753
HP:0003674	Onset	85452	CFAP74	OMIM:620197
HP:0003674	Onset	8242	KDM5C	OMIM:300534
HP:0003674	Onset	1374	CPT1A	OMIM:255120
HP:0003674	Onset	4942	OAT	OMIM:258870
HP:0003674	Onset	6664	SOX11	OMIM:615866
HP:0003674	Onset	4054	LTBP3	OMIM:617809
HP:0003674	Onset	80184	CEP290	OMIM:610189
HP:0003674	Onset	406960	MIR184	OMIM:614303
HP:0003674	Onset	4487	MSX1	OMIM:106600
HP:0003674	Onset	546	ATRX	OMIM:301040
HP:0003674	Onset	57379	AICDA	OMIM:605258
HP:0003674	Onset	84816	RTN4IP1	OMIM:616732
HP:0003674	Onset	123041	SLC24A4	OMIM:615887
HP:0003674	Onset	10235	RASGRP2	OMIM:615888
HP:0003674	Onset	90161	HS6ST2	OMIM:301025
HP:0003674	Onset	6638	SNRPN	OMIM:209850
HP:0003674	Onset	931	MS4A1	OMIM:613495
HP:0003674	Onset	131669	UROC1	OMIM:276880
HP:0003674	Onset	3514	IGKC	OMIM:614102
HP:0003674	Onset	23204	ARL6IP1	OMIM:615685
HP:0003674	Onset	50615	IL21R	OMIM:615207
HP:0003674	Onset	9371	KIF3B	OMIM:618955
HP:0003674	Onset	10577	NPC2	OMIM:607625
HP:0003674	Onset	7991	TUSC3	OMIM:611093
HP:0003674	Onset	112752	IFT43	OMIM:617871
HP:0003674	Onset	2182	ACSL4	OMIM:300387
HP:0003674	Onset	83452	RAB33B	OMIM:615222
HP:0003674	Onset	22948	CCT5	OMIM:256840
HP:0003674	Onset	4099	MAG	OMIM:616680
HP:0003674	Onset	8029	CUBN	OMIM:261100
HP:0003674	Onset	60684	TRAPPC11	OMIM:615356
HP:0003674	Onset	5361	PLXNA1	OMIM:619955
HP:0003674	Onset	7552	ZNF711	OMIM:300803
HP:0003674	Onset	8842	PROM1	OMIM:612095
HP:0003674	Onset	375790	AGRN	OMIM:615120
HP:0003674	Onset	25959	KANK2	OMIM:617783
HP:0003674	Onset	472	ATM	OMIM:208900
HP:0003674	Onset	80153	EDC3	OMIM:616460
HP:0003674	Onset	1298	COL9A2	OMIM:614284
HP:0003674	Onset	1298	COL9A2	OMIM:600204
HP:0003674	Onset	55214	P3H2	OMIM:614292
HP:0003674	Onset	5950	RBP4	OMIM:615147
HP:0003674	Onset	10861	SLC26A1	OMIM:167030
HP:0003674	Onset	339983	NAT8L	OMIM:614063
HP:0003674	Onset	25981	DNAH1	OMIM:617577
HP:0003674	Onset	84062	DTNBP1	OMIM:614076
HP:0003674	Onset	2742	GLRA2	OMIM:301076
HP:0003674	Onset	8295	TRRAP	OMIM:618454
HP:0003674	Onset	84695	LOXL3	OMIM:619781
HP:0003674	Onset	1337	COX6A1	OMIM:616039
HP:0003674	Onset	29127	RACGAP1	OMIM:619789
HP:0003674	Onset	23111	SPART	OMIM:275900
HP:0003674	Onset	2235	FECH	OMIM:177000
HP:0003674	Onset	79879	CCDC134	OMIM:619795
HP:0003674	Onset	53405	CLIC5	OMIM:616042
HP:0003674	Onset	9785	DHX38	OMIM:618220
HP:0003674	Onset	203547	VMA21	OMIM:310440
HP:0003674	Onset	6548	SLC9A1	OMIM:616291
HP:0003674	Onset	91942	NDUFAF2	OMIM:618233
HP:0003674	Onset	23102	TBC1D2B	OMIM:619323
HP:0003674	Onset	729920	CRPPA	OMIM:616052
HP:0003674	Onset	362	AQP5	OMIM:600231
HP:0003674	Onset	80224	NUBPL	OMIM:618242
HP:0003674	Onset	444	ASPH	OMIM:601552
HP:0003674	Onset	55814	BDP1	OMIM:618257
HP:0003674	Onset	390594	KBTBD13	OMIM:609273
HP:0003674	Onset	5158	PDE6B	OMIM:613801
HP:0003674	Onset	145226	RDH12	OMIM:612712
HP:0003674	Onset	28982	FLVCR1	OMIM:609033
HP:0003674	Onset	1300	COL10A1	OMIM:156500
HP:0003674	Onset	2312	FLG	OMIM:146700
HP:0003674	Onset	2916	GRM6	OMIM:257270
HP:0003674	Onset	8701	DNAH11	OMIM:611884
HP:0003674	Onset	383	ARG1	OMIM:207800
HP:0003674	Onset	9187	SLC24A1	OMIM:613830
HP:0003674	Onset	7388	UQCRH	OMIM:620137
HP:0003674	Onset	50640	PNPLA8	OMIM:251950
HP:0003674	Onset	6584	SLC22A5	OMIM:212140
HP:0003674	Onset	7109	TRAPPC10	OMIM:620027
HP:0003674	Onset	3291	HSD11B2	OMIM:218030
HP:0003674	Onset	49855	SCAPER	OMIM:618195
HP:0003674	Onset	221421	RSPH9	OMIM:612650
HP:0003674	Onset	51324	SPG21	OMIM:248900
HP:0003674	Onset	1137	CHRNA4	OMIM:600513
HP:0003674	Onset	340024	SLC6A19	OMIM:234500
HP:0003674	Onset	7187	TRAF3	OMIM:614849
HP:0003674	Onset	84334	COA8	OMIM:619061
HP:0003674	Onset	148022	TICAM1	OMIM:614850
HP:0003674	Onset	121512	FGD4	OMIM:609311
HP:0003674	Onset	1576	CYP3A4	OMIM:619073
HP:0003674	Onset	1267	CNP	OMIM:619071
HP:0003674	Onset	83394	PITPNM3	OMIM:600977
HP:0003674	Onset	65109	UPF3B	OMIM:300676
HP:0003674	Onset	57709	SLC7A14	OMIM:615725
HP:0003674	Onset	54862	CC2D1A	OMIM:608443
HP:0003674	Onset	29851	ICOS	OMIM:607594
HP:0003674	Onset	11152	WDR45	OMIM:300894
HP:0003674	Onset	11117	EMILIN1	OMIM:620080
HP:0003674	Onset	5122	PCSK1	OMIM:600955
HP:0003674	Onset	5194	PEX13	OMIM:614885
HP:0003674	Onset	9928	KIF14	OMIM:617914
HP:0003674	Onset	1384	CRAT	OMIM:617917
HP:0003674	Onset	55679	LIMS2	OMIM:616827
HP:0003674	Onset	710	SERPING1	OMIM:106100
HP:0003674	Onset	54413	NLGN3	OMIM:300425
HP:0003674	Onset	23590	PDSS1	OMIM:614651
HP:0003674	Onset	6307	MSMO1	OMIM:616834
HP:0003674	Onset	1261	CNGA3	OMIM:216900
HP:0003674	Onset	54808	DYM	OMIM:607326
HP:0003674	Onset	147495	APCDD1	OMIM:605389
HP:0003674	Onset	763	CA5A	OMIM:615751
HP:0003674	Onset	5148	PDE6G	OMIM:613582
HP:0003674	Onset	4297	KMT2A	OMIM:605130
HP:0003674	Onset	175	AGA	OMIM:208400
HP:0003674	Onset	93986	FOXP2	OMIM:602081
HP:0003674	Onset	51002	TPRKB	OMIM:617731
HP:0003674	Onset	255928	SYT14	OMIM:614229
HP:0003674	Onset	128178	EDARADD	OMIM:224900
HP:0003674	Onset	10913	EDAR	OMIM:224900
HP:0003674	Onset	629	CFB	OMIM:615561
HP:0003674	Onset	1314	COPA	OMIM:616414
HP:0003674	Onset	6569	SLC34A1	OMIM:613388
HP:0003674	Onset	57502	NLGN4X	OMIM:300495
HP:0003674	Onset	4791	NFKB2	OMIM:615577
HP:0003674	Onset	8815	BANF1	OMIM:614008
HP:0003674	Onset	7508	XPC	OMIM:278720
HP:0003674	Onset	10369	CACNG2	OMIM:614256
HP:0003674	Onset	2582	GALE	OMIM:230350
HP:0003674	Onset	5265	SERPINA1	OMIM:613490
HP:0003674	Onset	2100	ESR2	OMIM:618187
HP:0003674	Onset	3972	LHB	OMIM:228300
HP:0003674	Onset	3630	INS	OMIM:125852
HP:0003674	Onset	8671	SLC4A4	OMIM:604278
HP:0003674	Onset	3762	KCNJ5	OMIM:613485
HP:0003674	Onset	1200	TPP1	OMIM:609270
HP:0003674	Onset	10371	SEMA3A	OMIM:614897
HP:0003674	Onset	6640	SNTA1	OMIM:612955
HP:0003674	Onset	338328	GPIHBP1	OMIM:615947
HP:0003674	Onset	2022	ENG	OMIM:187300
HP:0003674	Onset	2624	GATA2	OMIM:614172
HP:0003674	Onset	116085	SLC22A12	OMIM:220150
HP:0003674	Onset	317761	C14orf39	OMIM:619203
HP:0003674	Onset	2896	GRN	OMIM:614706
HP:0003674	Onset	4287	ATXN3	OMIM:109150
HP:0003674	Onset	7515	XRCC1	OMIM:617633
HP:0003674	Onset	1593	CYP27A1	OMIM:213700
HP:0003674	Onset	54834	GDAP2	OMIM:618369
HP:0003674	Onset	5961	PRPH2	OMIM:608161
HP:0003674	Onset	4921	DDR2	OMIM:271665
HP:0003674	Onset	65992	DDRGK1	OMIM:602557
HP:0003674	Onset	3376	IARS1	OMIM:617093
HP:0003674	Onset	4718	NDUFC2	OMIM:619170
HP:0003674	Onset	4001	LMNB1	OMIM:619179
HP:0003674	Onset	3190	HNRNPK	OMIM:616580
HP:0003674	Onset	4709	NDUFB3	OMIM:618246
HP:0003674	Onset	100128927	ZBTB42	OMIM:616248
HP:0003674	Onset	10491	CRTAP	OMIM:610682
HP:0003674	Onset	51126	NAA20	OMIM:619717
HP:0003674	Onset	55329	MNS1	OMIM:618948
HP:0003674	Onset	3054	HCFC1	OMIM:309541
HP:0003674	Onset	51294	PCDH12	OMIM:251280
HP:0003674	Onset	347734	SLC35B2	OMIM:620269
HP:0003674	Onset	56270	WDR45B	OMIM:617977
HP:0003674	Onset	8854	ALDH1A2	OMIM:620025
HP:0003674	Onset	779	CACNA1S	OMIM:620246
HP:0003674	Onset	54361	WNT4	OMIM:611812
HP:0003674	Onset	5745	PTH1R	OMIM:215045
HP:0003674	Onset	701	BUB1B	OMIM:257300
HP:0003674	Onset	222663	SCUBE3	OMIM:619184
HP:0003674	Onset	80114	BICC1	OMIM:601331
HP:0003674	Onset	51626	DYNC2LI1	OMIM:617088
HP:0003674	Onset	9871	SEC24D	OMIM:616294
HP:0003674	Onset	7156	TOP3A	OMIM:618097
HP:0003674	Onset	219854	TMEM218	OMIM:619562
HP:0003674	Onset	55151	TMEM38B	OMIM:615066
HP:0003674	Onset	26281	FGF20	OMIM:615721
HP:0003674	Onset	56603	CYP26B1	OMIM:614416
HP:0003674	Onset	2752	GLUL	OMIM:610015
HP:0003674	Onset	9562	MINPP1	OMIM:619527
HP:0003674	Onset	1759	DNM1	OMIM:620352
HP:0003674	Onset	80347	COASY	OMIM:618266
HP:0003674	Onset	6154	RPL26	OMIM:614900
HP:0003674	Onset	57211	ADGRG6	OMIM:616503
HP:0003674	Onset	197131	UBR1	OMIM:243800
HP:0003674	Onset	6616	SNAP25	OMIM:616330
HP:0003674	Onset	871	SERPINH1	OMIM:613848
HP:0003674	Onset	9837	GINS1	OMIM:617827
HP:0003674	Onset	56052	ALG1	OMIM:608540
HP:0003674	Onset	2271	FH	OMIM:606812
HP:0003674	Onset	9321	TRIP11	OMIM:200600
HP:0003674	Onset	3897	L1CAM	OMIM:304100
HP:0003674	Onset	11041	B4GAT1	OMIM:615287
HP:0003674	Onset	23426	GRIP1	OMIM:617667
HP:0003674	Onset	4713	NDUFB7	OMIM:620135
HP:0003674	Onset	6862	TBXT	OMIM:615709
HP:0003674	Onset	168667	BMPER	OMIM:608022
HP:0003674	Onset	83959	SLC4A11	OMIM:217400
HP:0003596	Middle age onset	4292	MLH1	OMIM:158320
HP:0003596	Middle age onset	4436	MSH2	OMIM:158320
HP:0003596	Middle age onset	6622	SNCA	OMIM:605543
HP:0003596	Middle age onset	1410	CRYAB	OMIM:608810
HP:0003596	Middle age onset	1410	CRYAB	OMIM:615184
HP:0003596	Middle age onset	10159	ATP6AP2	OMIM:300911
HP:0003596	Middle age onset	7384	UQCRC1	OMIM:619279
HP:0003596	Middle age onset	6331	SCN5A	OMIM:614022
HP:0003596	Middle age onset	583	BBS2	OMIM:616562
HP:0003596	Middle age onset	4750	NEK1	OMIM:617892
HP:0003596	Middle age onset	8573	CASK	OMIM:300908
HP:0003596	Middle age onset	2539	G6PD	OMIM:300908
HP:0003596	Middle age onset	9782	MATR3	OMIM:606070
HP:0003596	Middle age onset	7415	VCP	OMIM:616687
HP:0003596	Middle age onset	7415	VCP	OMIM:167320
HP:0003596	Middle age onset	7415	VCP	OMIM:613954
HP:0003596	Middle age onset	3910	LAMA4	OMIM:615235
HP:0003596	Middle age onset	400916	CHCHD10	OMIM:615911
HP:0003596	Middle age onset	400916	CHCHD10	OMIM:615048
HP:0003596	Middle age onset	7277	TUBA4A	OMIM:616208
HP:0003596	Middle age onset	5165	PDK3	OMIM:300905
HP:0003596	Middle age onset	3703	STT3A	OMIM:619714
HP:0003596	Middle age onset	5894	RAF1	OMIM:615916
HP:0003596	Middle age onset	5155	PDGFB	OMIM:615483
HP:0003596	Middle age onset	70	ACTC1	OMIM:612098
HP:0003596	Middle age onset	70	ACTC1	OMIM:613424
HP:0003596	Middle age onset	84665	MYPN	OMIM:615248
HP:0003596	Middle age onset	84665	MYPN	OMIM:617336
HP:0003596	Middle age onset	3759	KCNJ2	OMIM:613980
HP:0003596	Middle age onset	54982	CLN6	OMIM:204300
HP:0003596	Middle age onset	1824	DSC2	OMIM:610476
HP:0003596	Middle age onset	5159	PDGFRB	OMIM:615007
HP:0003596	Middle age onset	4884	NPTX1	OMIM:620158
HP:0003596	Middle age onset	7015	TERT	OMIM:613989
HP:0003596	Middle age onset	55034	MOCOS	OMIM:603592
HP:0003596	Middle age onset	5649	RELN	OMIM:600512
HP:0003596	Middle age onset	64780	MICAL1	OMIM:600512
HP:0003596	Middle age onset	9211	LGI1	OMIM:600512
HP:0003596	Middle age onset	2273	FHL1	OMIM:300695
HP:0003596	Middle age onset	64601	VPS16	OMIM:619291
HP:0003596	Middle age onset	653509	SFTPA1	OMIM:619611
HP:0003596	Middle age onset	57449	PLEKHG5	OMIM:615376
HP:0003596	Middle age onset	50484	RRM2B	OMIM:613077
HP:0003596	Middle age onset	79797	ZNF408	OMIM:616469
HP:0003596	Middle age onset	79797	ZNF408	OMIM:616468
HP:0003596	Middle age onset	4901	NRL	OMIM:613750
HP:0003596	Middle age onset	2702	GJA5	OMIM:614049
HP:0003596	Middle age onset	6324	SCN1B	OMIM:615377
HP:0003596	Middle age onset	6327	SCN2B	OMIM:615378
HP:0003596	Middle age onset	9149	DYRK1B	OMIM:615812
HP:0003596	Middle age onset	8930	MBD4	OMIM:619975
HP:0003596	Middle age onset	311	ANXA11	OMIM:619733
HP:0003596	Middle age onset	311	ANXA11	OMIM:617839
HP:0003596	Middle age onset	5350	PLN	OMIM:613874
HP:0003596	Middle age onset	5173	PDYN	OMIM:610245
HP:0003596	Middle age onset	80201	HKDC1	OMIM:619614
HP:0003596	Middle age onset	7123	CLEC3B	OMIM:619977
HP:0003596	Middle age onset	29967	LRP12	OMIM:164310
HP:0003596	Middle age onset	9750	RIPOR2	OMIM:607017
HP:0003596	Middle age onset	10060	ABCC9	OMIM:614050
HP:0003596	Middle age onset	10060	ABCC9	OMIM:608569
HP:0003596	Middle age onset	659	BMPR2	OMIM:178600
HP:0003596	Middle age onset	5442	POLRMT	OMIM:619743
HP:0003596	Middle age onset	65055	REEP1	OMIM:610250
HP:0003596	Middle age onset	9517	SPTLC2	OMIM:613640
HP:0003596	Middle age onset	246243	RNASEH1	OMIM:616479
HP:0003596	Middle age onset	9531	BAG3	OMIM:613881
HP:0003596	Middle age onset	1600	DAB1	OMIM:615945
HP:0003596	Middle age onset	6392	SDHD	OMIM:168000
HP:0003596	Middle age onset	9096	TBX18	OMIM:143400
HP:0003596	Middle age onset	9907	AP5Z1	OMIM:613647
HP:0003596	Middle age onset	6908	TBP	OMIM:607136
HP:0003596	Middle age onset	4854	NOTCH3	OMIM:125310
HP:0003596	Middle age onset	9897	WASHC5	OMIM:603563
HP:0003596	Middle age onset	2512	FTL	OMIM:606159
HP:0003596	Middle age onset	5311	PKD2	OMIM:613095
HP:0003596	Middle age onset	4117	MAK	OMIM:614181
HP:0003596	Middle age onset	5314	PKHD1	OMIM:263200
HP:0003596	Middle age onset	5255	PHKA1	OMIM:300559
HP:0003596	Middle age onset	54902	TTC19	OMIM:615157
HP:0003596	Middle age onset	51604	PIGT	OMIM:615399
HP:0003596	Middle age onset	4878	NPPA	OMIM:612201
HP:0003596	Middle age onset	57863	CADM3	OMIM:619519
HP:0003596	Middle age onset	389692	MAFA	OMIM:147630
HP:0003596	Middle age onset	7139	TNNT2	OMIM:115195
HP:0003596	Middle age onset	7139	TNNT2	OMIM:601494
HP:0003596	Middle age onset	60481	ELOVL5	OMIM:615957
HP:0003596	Middle age onset	10059	DNM1L	OMIM:610708
HP:0003596	Middle age onset	4763	NF1	OMIM:162210
HP:0003596	Middle age onset	4669	NAGLU	OMIM:616491
HP:0003596	Middle age onset	23095	KIF1B	OMIM:118210
HP:0003596	Middle age onset	4437	MSH3	OMIM:617100
HP:0003596	Middle age onset	3075	CFH	OMIM:126700
HP:0003596	Middle age onset	2542	SLC37A4	OMIM:619525
HP:0003596	Middle age onset	6117	RPA1	OMIM:619767
HP:0003596	Middle age onset	11149	BVES	OMIM:616812
HP:0003596	Middle age onset	29110	TBK1	OMIM:617900
HP:0003596	Middle age onset	57462	MYORG	OMIM:618317
HP:0003596	Middle age onset	4137	MAPT	OMIM:600274
HP:0003596	Middle age onset	5663	PSEN1	OMIM:600274
HP:0003596	Middle age onset	5663	PSEN1	OMIM:613694
HP:0003596	Middle age onset	1436	CSF1R	OMIM:221820
HP:0003596	Middle age onset	1282	COL4A1	OMIM:618564
HP:0003596	Middle age onset	9992	KCNE2	OMIM:611493
HP:0003596	Middle age onset	3717	JAK2	OMIM:263300
HP:0003596	Middle age onset	10133	OPTN	OMIM:613435
HP:0003596	Middle age onset	3752	KCND3	OMIM:607346
HP:0003596	Middle age onset	3752	KCND3	OMIM:616399
HP:0003596	Middle age onset	203859	ANO5	OMIM:613319
HP:0003596	Middle age onset	203859	ANO5	OMIM:611307
HP:0003596	Middle age onset	7045	TGFBI	OMIM:121820
HP:0003596	Middle age onset	351	APP	OMIM:605714
HP:0003596	Middle age onset	5654	HTRA1	OMIM:600142
HP:0003596	Middle age onset	5654	HTRA1	OMIM:616779
HP:0003596	Middle age onset	23676	SMPX	OMIM:301075
HP:0003596	Middle age onset	9217	VAPB	OMIM:182980
HP:0003596	Middle age onset	9217	VAPB	OMIM:608627
HP:0003596	Middle age onset	59345	GNB4	OMIM:615185
HP:0003596	Middle age onset	50939	IMPG2	OMIM:616152
HP:0003596	Middle age onset	23093	TTLL5	OMIM:615860
HP:0003596	Middle age onset	3798	KIF5A	OMIM:617921
HP:0003596	Middle age onset	51142	CHCHD2	OMIM:616710
HP:0003596	Middle age onset	339453	TMEM240	OMIM:607454
HP:0003596	Middle age onset	1674	DES	OMIM:181400
HP:0003596	Middle age onset	1861	TOR1A	OMIM:128100
HP:0003596	Middle age onset	8729	GBF1	OMIM:606483
HP:0003596	Middle age onset	1134	CHRNA1	OMIM:601462
HP:0003596	Middle age onset	4141	MARS1	OMIM:616280
HP:0003596	Middle age onset	92935	MARS2	OMIM:611390
HP:0003596	Middle age onset	3741	KCNA5	OMIM:612240
HP:0003596	Middle age onset	9698	PUM1	OMIM:617931
HP:0003596	Middle age onset	4311	MME	OMIM:617018
HP:0003596	Middle age onset	4311	MME	OMIM:617017
HP:0003596	Middle age onset	5664	PSEN2	OMIM:613697
HP:0003596	Middle age onset	5664	PSEN2	OMIM:606889
HP:0003596	Middle age onset	2066	ERBB4	OMIM:615515
HP:0003596	Middle age onset	5428	POLG	OMIM:258450
HP:0003596	Middle age onset	5428	POLG	OMIM:157640
HP:0003596	Middle age onset	3315	HSPB1	OMIM:606595
HP:0003596	Middle age onset	10516	FBLN5	OMIM:608895
HP:0003596	Middle age onset	2200	FBN1	OMIM:129600
HP:0003596	Middle age onset	7555	CNBP	OMIM:602668
HP:0003596	Middle age onset	256471	MFSD8	OMIM:616170
HP:0003596	Middle age onset	7317	UBA1	OMIM:301054
HP:0003596	Middle age onset	3748	KCNC3	OMIM:605259
HP:0003596	Middle age onset	1822	ATN1	OMIM:125370
HP:0003596	Middle age onset	440193	CCDC88C	OMIM:616053
HP:0003596	Middle age onset	25814	ATXN10	OMIM:603516
HP:0003596	Middle age onset	57798	GATAD1	OMIM:614672
HP:0003596	Middle age onset	1829	DSG2	OMIM:610193
HP:0003596	Middle age onset	440275	EIF2AK4	OMIM:234810
HP:0003596	Middle age onset	57505	AARS2	OMIM:615889
HP:0003596	Middle age onset	54822	TRPM7	OMIM:105500
HP:0003596	Middle age onset	4010	LMX1B	OMIM:256020
HP:0003596	Middle age onset	324	APC	OMIM:135290
HP:0003596	Middle age onset	3784	KCNQ1	OMIM:607554
HP:0003596	Middle age onset	343641	TGM6	OMIM:613908
HP:0003596	Middle age onset	5071	PRKN	OMIM:600116
HP:0003596	Middle age onset	727676	SNORD118	OMIM:614561
HP:0003596	Middle age onset	1181	CLCN2	OMIM:615651
HP:0003596	Middle age onset	29978	UBQLN2	OMIM:300857
HP:0003596	Middle age onset	8622	PDE8B	OMIM:609161
HP:0003596	Middle age onset	8314	BAP1	OMIM:614327
HP:0003596	Middle age onset	1000	CDH2	OMIM:618920
HP:0003596	Middle age onset	5837	PYGM	OMIM:232600
HP:0003596	Middle age onset	100134444	KCNJ18	OMIM:613239
HP:0003596	Middle age onset	825	CAPN3	OMIM:618129
HP:0003596	Middle age onset	55975	KLHL7	OMIM:612943
HP:0003596	Middle age onset	116442	RAB39B	OMIM:311510
HP:0003596	Middle age onset	2218	FKTN	OMIM:611615
HP:0003596	Middle age onset	3119	HLA-DQB1	OMIM:123400
HP:0003596	Middle age onset	5621	PRNP	OMIM:123400
HP:0003596	Middle age onset	5621	PRNP	OMIM:606688
HP:0003596	Middle age onset	2632	GBE1	OMIM:263570
HP:0003596	Middle age onset	9420	CYP7B1	OMIM:270800
HP:0003596	Middle age onset	2318	FLNC	OMIM:617047
HP:0003596	Middle age onset	9445	ITM2B	OMIM:616079
HP:0003596	Middle age onset	4015	LOX	OMIM:617168
HP:0003596	Middle age onset	10667	FARS2	OMIM:617046
HP:0003596	Middle age onset	2992	GYG1	OMIM:616199
HP:0003596	Middle age onset	55800	SCN3B	OMIM:613120
HP:0003596	Middle age onset	4072	EPCAM	OMIM:613244
HP:0003596	Middle age onset	3178	HNRNPA1	OMIM:615424
HP:0003596	Middle age onset	7134	TNNC1	OMIM:613243
HP:0003596	Middle age onset	7134	TNNC1	OMIM:611879
HP:0003596	Middle age onset	91624	NEXN	OMIM:613122
HP:0003596	Middle age onset	26060	APPL1	OMIM:616511
HP:0003596	Middle age onset	10320	IKZF1	OMIM:616873
HP:0003596	Middle age onset	2224	FDPS	OMIM:616631
HP:0003596	Middle age onset	7273	TTN	OMIM:604145
HP:0003596	Middle age onset	9563	H6PD	OMIM:604931
HP:0003596	Middle age onset	57338	JPH3	OMIM:606438
HP:0003596	Middle age onset	1816	DRD5	OMIM:606798
HP:0003596	Middle age onset	55791	LRIF1	OMIM:619477
HP:0003596	Middle age onset	100996717	NOTCH2NLC	OMIM:619473
HP:0003596	Middle age onset	4624	MYH6	OMIM:613252
HP:0003596	Middle age onset	7414	VCL	OMIM:613255
HP:0003596	Middle age onset	7414	VCL	OMIM:611407
HP:0003596	Middle age onset	84196	USP48	OMIM:620227
HP:0003596	Middle age onset	84839	RAX2	OMIM:620102
HP:0003596	Middle age onset	7168	TPM1	OMIM:611878
HP:0003596	Middle age onset	672	BRCA1	OMIM:604370
HP:0003596	Middle age onset	1495	CTNNA1	OMIM:608970
HP:0003596	Middle age onset	84868	HAVCR2	OMIM:618398
HP:0003596	Middle age onset	10483	SEC23B	OMIM:224100
HP:0003596	Middle age onset	7084	TK2	OMIM:617069
HP:0003596	Middle age onset	3827	KNG1	OMIM:619363
HP:0003596	Middle age onset	491	ATP2B2	OMIM:619804
HP:0003596	Middle age onset	219285	SAMD9L	OMIM:619806
HP:0003596	Middle age onset	8911	CACNA1I	OMIM:620114
HP:0003596	Middle age onset	1786	DNMT1	OMIM:604121
HP:0003596	Middle age onset	3710	ITPR3	OMIM:620111
HP:0003596	Middle age onset	10137	RBM12	OMIM:617629
HP:0003596	Middle age onset	6785	ELOVL4	OMIM:133190
HP:0003596	Middle age onset	9516	LITAF	OMIM:601098
HP:0003596	Middle age onset	4131	MAP1B	OMIM:619808
HP:0003596	Middle age onset	80208	SPG11	OMIM:604360
HP:0003596	Middle age onset	5660	PSAP	OMIM:619491
HP:0003596	Middle age onset	25978	CHMP2B	OMIM:600795
HP:0003596	Middle age onset	1716	DGUOK	OMIM:617070
HP:0003596	Middle age onset	6389	SDHA	OMIM:619259
HP:0003596	Middle age onset	1540	CYLD	OMIM:619132
HP:0003596	Middle age onset	7072	TIA1	OMIM:619133
HP:0003596	Middle age onset	8651	SOCS1	OMIM:619375
HP:0003596	Middle age onset	138050	HGSNAT	OMIM:616544
HP:0003596	Middle age onset	7716	VEZF1	OMIM:620247
HP:0003596	Middle age onset	654	BMP6	OMIM:620121
HP:0003596	Middle age onset	6609	SMPD1	OMIM:607616
HP:0003596	Middle age onset	348	APOE	OMIM:606889
HP:0003596	Middle age onset	4359	MPZ	OMIM:607736
HP:0003596	Middle age onset	899	CCNF	OMIM:619141
HP:0003596	Middle age onset	23193	GANAB	OMIM:600666
HP:0003596	Middle age onset	6103	RPGR	OMIM:300029
HP:0003596	Middle age onset	857	CAV1	OMIM:615343
HP:0003596	Middle age onset	4747	NEFL	OMIM:617882
HP:0003596	Middle age onset	1981	EIF4G1	OMIM:614251
HP:0003596	Middle age onset	7137	TNNI3	OMIM:613286
HP:0003596	Middle age onset	4000	LMNA	OMIM:115200
HP:0003596	Middle age onset	79875	THSD4	OMIM:619825
HP:0003596	Middle age onset	16	AARS1	OMIM:613287
HP:0003596	Middle age onset	3777	KCNK3	OMIM:615344
HP:0003596	Middle age onset	2196	FAT2	OMIM:617769
HP:0003596	Middle age onset	55901	THSD1	OMIM:618734
HP:0003596	Middle age onset	8996	NOL3	OMIM:614937
HP:0003596	Middle age onset	10299	MARCHF6	OMIM:613608
HP:0003596	Middle age onset	55129	ANO10	OMIM:613728
HP:0003596	Middle age onset	80036	TRPM3	OMIM:620253
HP:0006000	Ureteral obstruction	1009	CDH11	ORPHA:1299
HP:0006000	Ureteral obstruction	1493	CTLA4	ORPHA:900
HP:0006000	Ureteral obstruction	26191	PTPN22	ORPHA:900
HP:0006000	Ureteral obstruction	3115	HLA-DPB1	ORPHA:900
HP:0006000	Ureteral obstruction	5657	PRTN3	ORPHA:900
HP:0006000	Ureteral obstruction	3113	HLA-DPA1	ORPHA:900
HP:0006000	Ureteral obstruction	26040	SETBP1	OMIM:269150
HP:0006000	Ureteral obstruction	4838	NODAL	OMIM:270100
HP:0006000	Ureteral obstruction	51604	PIGT	OMIM:615398
HP:0006000	Ureteral obstruction	7528	YY1	ORPHA:506358
HP:0006000	Ureteral obstruction	7528	YY1	OMIM:617557
HP:0006000	Ureteral obstruction	7355	SLC35A2	OMIM:300896
HP:0006000	Ureteral obstruction	6928	HNF1B	OMIM:137920
HP:0006000	Ureteral obstruction	9487	PIGL	OMIM:280000
HP:0006000	Ureteral obstruction	64321	SOX17	OMIM:613674
HP:0006000	Ureteral obstruction	3209	HOXA13	OMIM:140000
HP:0006000	Ureteral obstruction	3209	HOXA13	ORPHA:2438
HP:0006000	Ureteral obstruction	10992	SF3B2	OMIM:164210
HP:0006000	Ureteral obstruction	2138	EYA1	ORPHA:107
HP:0006000	Ureteral obstruction	147912	SIX5	ORPHA:107
HP:0006000	Ureteral obstruction	6495	SIX1	ORPHA:107
HP:0006000	Ureteral obstruction	64324	NSD1	ORPHA:821
HP:0006000	Ureteral obstruction	29072	SETD2	ORPHA:821
HP:0006000	Ureteral obstruction	10297	APC2	ORPHA:821
HP:0006000	Ureteral obstruction	25778	DSTYK	OMIM:610805
HP:0006000	Ureteral obstruction	1717	DHCR7	OMIM:270400
HP:0006000	Ureteral obstruction	1717	DHCR7	ORPHA:818
HP:0006000	Ureteral obstruction	2972	BRF1	ORPHA:444072
HP:0006000	Ureteral obstruction	7750	ZMYM2	OMIM:619522
HP:0006000	Ureteral obstruction	2782	GNB1	OMIM:616973
HP:0006000	Ureteral obstruction	10861	SLC26A1	OMIM:167030
HP:0006000	Ureteral obstruction	8085	KMT2D	ORPHA:2322
HP:0006000	Ureteral obstruction	8085	KMT2D	OMIM:147920
HP:0006000	Ureteral obstruction	7403	KDM6A	ORPHA:2322
HP:0006000	Ureteral obstruction	7403	KDM6A	OMIM:147920
HP:0006000	Ureteral obstruction	4654	MYOD1	OMIM:618975
HP:0006000	Ureteral obstruction	9096	TBX18	OMIM:143400
HP:0006000	Ureteral obstruction	3909	LAMA3	ORPHA:79404
HP:0006000	Ureteral obstruction	3918	LAMC2	ORPHA:79404
HP:0006000	Ureteral obstruction	3914	LAMB3	ORPHA:79404
HP:0006000	Ureteral obstruction	2316	FLNA	ORPHA:1826
HP:0006000	Ureteral obstruction	2316	FLNA	ORPHA:90652
HP:0006000	Ureteral obstruction	6885	MAP3K7	ORPHA:1826
HP:0006000	Ureteral obstruction	538	ATP7A	OMIM:304150
HP:0006000	Ureteral obstruction	9380	GRHPR	ORPHA:93599
HP:0000069	Abnormality of the ureter	134701	RIPPLY2	ORPHA:2311
HP:0000069	Abnormality of the ureter	10683	DLL3	ORPHA:2311
HP:0000069	Abnormality of the ureter	3955	LFNG	ORPHA:2311
HP:0000069	Abnormality of the ureter	84667	HES7	ORPHA:2311
HP:0000069	Abnormality of the ureter	145873	MESP2	ORPHA:2311
HP:0000069	Abnormality of the ureter	6794	STK11	OMIM:175200
HP:0000069	Abnormality of the ureter	6794	STK11	ORPHA:2869
HP:0000069	Abnormality of the ureter	3339	HSPG2	ORPHA:800
HP:0000069	Abnormality of the ureter	7372	UMPS	ORPHA:30
HP:0000069	Abnormality of the ureter	3845	KRAS	ORPHA:3339
HP:0000069	Abnormality of the ureter	2314	FLII	ORPHA:819
HP:0000069	Abnormality of the ureter	23096	IQSEC2	ORPHA:819
HP:0000069	Abnormality of the ureter	10743	RAI1	ORPHA:819
HP:0000069	Abnormality of the ureter	10522	DEAF1	ORPHA:819
HP:0000069	Abnormality of the ureter	5818	NECTIN1	ORPHA:3253
HP:0000069	Abnormality of the ureter	3655	ITGA6	ORPHA:79403
HP:0000069	Abnormality of the ureter	3691	ITGB4	ORPHA:79403
HP:0000069	Abnormality of the ureter	3691	ITGB4	ORPHA:158684
HP:0000069	Abnormality of the ureter	3975	LHX1	ORPHA:261265
HP:0000069	Abnormality of the ureter	5339	PLEC	ORPHA:158684
HP:0000069	Abnormality of the ureter	5190	PEX6	OMIM:614863
HP:0000069	Abnormality of the ureter	10982	MAPRE2	OMIM:616734
HP:0000069	Abnormality of the ureter	6792	CDKL5	ORPHA:1934
HP:0000069	Abnormality of the ureter	3736	KCNA1	ORPHA:1934
HP:0000069	Abnormality of the ureter	2775	GNAO1	ORPHA:1934
HP:0000069	Abnormality of the ureter	81603	TRIM8	ORPHA:1934
HP:0000069	Abnormality of the ureter	2902	GRIN1	ORPHA:1934
HP:0000069	Abnormality of the ureter	79751	SLC25A22	ORPHA:1934
HP:0000069	Abnormality of the ureter	150094	SIK1	ORPHA:1934
HP:0000069	Abnormality of the ureter	8573	CASK	ORPHA:1934
HP:0000069	Abnormality of the ureter	23312	DMXL2	ORPHA:1934
HP:0000069	Abnormality of the ureter	2917	GRM7	ORPHA:1934
HP:0000069	Abnormality of the ureter	170302	ARX	ORPHA:1934
HP:0000069	Abnormality of the ureter	11284	PNKP	ORPHA:1934
HP:0000069	Abnormality of the ureter	6326	SCN2A	ORPHA:1934
HP:0000069	Abnormality of the ureter	51227	PIGP	ORPHA:1934
HP:0000069	Abnormality of the ureter	6324	SCN1B	ORPHA:1934
HP:0000069	Abnormality of the ureter	4761	NEUROD2	ORPHA:1934
HP:0000069	Abnormality of the ureter	1009	CDH11	ORPHA:1299
HP:0000069	Abnormality of the ureter	1493	CTLA4	ORPHA:900
HP:0000069	Abnormality of the ureter	26191	PTPN22	ORPHA:900
HP:0000069	Abnormality of the ureter	3115	HLA-DPB1	ORPHA:900
HP:0000069	Abnormality of the ureter	5657	PRTN3	ORPHA:900
HP:0000069	Abnormality of the ureter	3113	HLA-DPA1	ORPHA:900
HP:0000069	Abnormality of the ureter	5337	PLD1	OMIM:212093
HP:0000069	Abnormality of the ureter	9653	HS2ST1	OMIM:619194
HP:0000069	Abnormality of the ureter	2294	FOXF1	OMIM:265380
HP:0000069	Abnormality of the ureter	4638	MYLK	OMIM:249210
HP:0000069	Abnormality of the ureter	4638	MYLK	ORPHA:2241
HP:0000069	Abnormality of the ureter	8260	NAA10	OMIM:309800
HP:0000069	Abnormality of the ureter	8260	NAA10	ORPHA:568
HP:0000069	Abnormality of the ureter	54880	BCOR	OMIM:309800
HP:0000069	Abnormality of the ureter	54880	BCOR	ORPHA:568
HP:0000069	Abnormality of the ureter	54101	RIPK4	ORPHA:1401
HP:0000069	Abnormality of the ureter	1161	ERCC8	ORPHA:90324
HP:0000069	Abnormality of the ureter	2074	ERCC6	ORPHA:90324
HP:0000069	Abnormality of the ureter	1909	EDNRA	OMIM:616367
HP:0000069	Abnormality of the ureter	8195	MKKS	OMIM:236700
HP:0000069	Abnormality of the ureter	3909	LAMA3	ORPHA:79404
HP:0000069	Abnormality of the ureter	3918	LAMC2	ORPHA:79404
HP:0000069	Abnormality of the ureter	3914	LAMB3	ORPHA:79404
HP:0000069	Abnormality of the ureter	554	AVPR2	ORPHA:223
HP:0000069	Abnormality of the ureter	359	AQP2	ORPHA:223
HP:0000069	Abnormality of the ureter	51715	RAB23	OMIM:201000
HP:0000069	Abnormality of the ureter	25802	LMOD1	OMIM:619362
HP:0000069	Abnormality of the ureter	25802	LMOD1	ORPHA:2241
HP:0000069	Abnormality of the ureter	4629	MYH11	ORPHA:2241
HP:0000069	Abnormality of the ureter	56975	FAM20C	OMIM:259775
HP:0000069	Abnormality of the ureter	57492	ARID1B	OMIM:135900
HP:0000069	Abnormality of the ureter	25915	NDUFAF3	OMIM:618240
HP:0000069	Abnormality of the ureter	100151683	RNU4ATAC	ORPHA:2636
HP:0000069	Abnormality of the ureter	672	BRCA1	ORPHA:84
HP:0000069	Abnormality of the ureter	10459	MAD2L2	ORPHA:84
HP:0000069	Abnormality of the ureter	7516	XRCC2	ORPHA:84
HP:0000069	Abnormality of the ureter	29089	UBE2T	ORPHA:84
HP:0000069	Abnormality of the ureter	675	BRCA2	ORPHA:84
HP:0000069	Abnormality of the ureter	55120	FANCL	ORPHA:84
HP:0000069	Abnormality of the ureter	2177	FANCD2	ORPHA:84
HP:0000069	Abnormality of the ureter	2175	FANCA	ORPHA:84
HP:0000069	Abnormality of the ureter	2187	FANCB	ORPHA:84
HP:0000069	Abnormality of the ureter	2176	FANCC	ORPHA:84
HP:0000069	Abnormality of the ureter	2178	FANCE	ORPHA:84
HP:0000069	Abnormality of the ureter	2189	FANCG	ORPHA:84
HP:0000069	Abnormality of the ureter	5888	RAD51	ORPHA:84
HP:0000069	Abnormality of the ureter	5889	RAD51C	ORPHA:84
HP:0000069	Abnormality of the ureter	55159	RFWD3	ORPHA:84
HP:0000069	Abnormality of the ureter	83990	BRIP1	ORPHA:84
HP:0000069	Abnormality of the ureter	57697	FANCM	ORPHA:84
HP:0000069	Abnormality of the ureter	79728	PALB2	ORPHA:84
HP:0000069	Abnormality of the ureter	84464	SLX4	ORPHA:84
HP:0000069	Abnormality of the ureter	2072	ERCC4	ORPHA:84
HP:0000069	Abnormality of the ureter	71	ACTG1	ORPHA:2995
HP:0000069	Abnormality of the ureter	60	ACTB	ORPHA:2995
HP:0000069	Abnormality of the ureter	5566	PRKACA	ORPHA:289
HP:0000069	Abnormality of the ureter	5567	PRKACB	ORPHA:289
HP:0000069	Abnormality of the ureter	2735	GLI1	ORPHA:289
HP:0000069	Abnormality of the ureter	2121	EVC	ORPHA:289
HP:0000069	Abnormality of the ureter	51626	DYNC2LI1	ORPHA:289
HP:0000069	Abnormality of the ureter	132884	EVC2	ORPHA:289
HP:0000069	Abnormality of the ureter	7466	WFS1	OMIM:222300
HP:0000069	Abnormality of the ureter	166379	BBS12	OMIM:615989
HP:0000069	Abnormality of the ureter	1642	DDB1	OMIM:619426
HP:0000069	Abnormality of the ureter	6655	SOS2	OMIM:616559
HP:0000069	Abnormality of the ureter	63895	PIEZO2	ORPHA:2461
HP:0000069	Abnormality of the ureter	26040	SETBP1	OMIM:269150
HP:0000069	Abnormality of the ureter	2737	GLI3	OMIM:146510
HP:0000069	Abnormality of the ureter	9361	LONP1	ORPHA:1458
HP:0000069	Abnormality of the ureter	1376	CPT2	OMIM:608836
HP:0000069	Abnormality of the ureter	8312	AXIN1	OMIM:607864
HP:0000069	Abnormality of the ureter	2239	GPC4	ORPHA:373
HP:0000069	Abnormality of the ureter	2719	GPC3	ORPHA:373
HP:0000069	Abnormality of the ureter	388662	SLC6A17	ORPHA:457212
HP:0000069	Abnormality of the ureter	145173	B3GLCT	OMIM:261540
HP:0000069	Abnormality of the ureter	145173	B3GLCT	ORPHA:709
HP:0000069	Abnormality of the ureter	4000	LMNA	ORPHA:1662
HP:0000069	Abnormality of the ureter	10269	ZMPSTE24	ORPHA:1662
HP:0000069	Abnormality of the ureter	10269	ZMPSTE24	OMIM:275210
HP:0000069	Abnormality of the ureter	284252	KCTD1	ORPHA:2036
HP:0000069	Abnormality of the ureter	2627	GATA6	ORPHA:2255
HP:0000069	Abnormality of the ureter	2627	GATA6	OMIM:600001
HP:0000069	Abnormality of the ureter	4838	NODAL	OMIM:270100
HP:0000069	Abnormality of the ureter	10653	SPINT2	OMIM:270420
HP:0000069	Abnormality of the ureter	84314	TMEM107	ORPHA:564
HP:0000069	Abnormality of the ureter	26123	TCTN3	ORPHA:564
HP:0000069	Abnormality of the ureter	79867	TCTN2	ORPHA:564
HP:0000069	Abnormality of the ureter	80776	B9D2	ORPHA:564
HP:0000069	Abnormality of the ureter	79600	TCTN1	ORPHA:564
HP:0000069	Abnormality of the ureter	57096	RPGRIP1	ORPHA:564
HP:0000069	Abnormality of the ureter	79848	CSPP1	ORPHA:564
HP:0000069	Abnormality of the ureter	80184	CEP290	ORPHA:564
HP:0000069	Abnormality of the ureter	51259	TMEM216	ORPHA:564
HP:0000069	Abnormality of the ureter	57545	CC2D2A	ORPHA:564
HP:0000069	Abnormality of the ureter	79583	TMEM231	ORPHA:564
HP:0000069	Abnormality of the ureter	91147	TMEM67	ORPHA:564
HP:0000069	Abnormality of the ureter	79770	TXNDC15	ORPHA:564
HP:0000069	Abnormality of the ureter	27077	B9D1	ORPHA:564
HP:0000069	Abnormality of the ureter	23322	RPGRIP1L	ORPHA:564
HP:0000069	Abnormality of the ureter	54903	MKS1	ORPHA:564
HP:0000069	Abnormality of the ureter	65062	TMEM237	ORPHA:564
HP:0000069	Abnormality of the ureter	9742	IFT140	OMIM:266920
HP:0000069	Abnormality of the ureter	6654	SOS1	OMIM:610733
HP:0000069	Abnormality of the ureter	7528	YY1	ORPHA:506358
HP:0000069	Abnormality of the ureter	7528	YY1	OMIM:617557
HP:0000069	Abnormality of the ureter	7355	SLC35A2	OMIM:300896
HP:0000069	Abnormality of the ureter	6928	HNF1B	OMIM:137920
HP:0000069	Abnormality of the ureter	9487	PIGL	OMIM:280000
HP:0000069	Abnormality of the ureter	1717	DHCR7	OMIM:270400
HP:0000069	Abnormality of the ureter	1717	DHCR7	ORPHA:818
HP:0000069	Abnormality of the ureter	2972	BRF1	ORPHA:444072
HP:0000069	Abnormality of the ureter	2782	GNB1	OMIM:616973
HP:0000069	Abnormality of the ureter	10861	SLC26A1	OMIM:167030
HP:0000069	Abnormality of the ureter	8085	KMT2D	ORPHA:2322
HP:0000069	Abnormality of the ureter	8085	KMT2D	OMIM:147920
HP:0000069	Abnormality of the ureter	7403	KDM6A	ORPHA:2322
HP:0000069	Abnormality of the ureter	7403	KDM6A	OMIM:147920
HP:0000069	Abnormality of the ureter	4654	MYOD1	OMIM:618975
HP:0000069	Abnormality of the ureter	25970	SH2B1	ORPHA:261222
HP:0000069	Abnormality of the ureter	5076	PAX2	ORPHA:97362
HP:0000069	Abnormality of the ureter	5076	PAX2	ORPHA:1475
HP:0000069	Abnormality of the ureter	5076	PAX2	OMIM:120330
HP:0000069	Abnormality of the ureter	10617	STAMBP	OMIM:614261
HP:0000069	Abnormality of the ureter	8294	H4C9	OMIM:619951
HP:0000069	Abnormality of the ureter	2138	EYA1	OMIM:113650
HP:0000069	Abnormality of the ureter	2138	EYA1	ORPHA:107
HP:0000069	Abnormality of the ureter	6495	SIX1	OMIM:113650
HP:0000069	Abnormality of the ureter	6495	SIX1	OMIM:605192
HP:0000069	Abnormality of the ureter	6495	SIX1	ORPHA:107
HP:0000069	Abnormality of the ureter	54892	NCAPG2	OMIM:618460
HP:0000069	Abnormality of the ureter	9860	LRIG2	OMIM:615112
HP:0000069	Abnormality of the ureter	9860	LRIG2	ORPHA:2704
HP:0000069	Abnormality of the ureter	26128	KIFBP	OMIM:609460
HP:0000069	Abnormality of the ureter	1788	DNMT3A	OMIM:615879
HP:0000069	Abnormality of the ureter	5361	PLXNA1	OMIM:619955
HP:0000069	Abnormality of the ureter	3209	HOXA13	OMIM:140000
HP:0000069	Abnormality of the ureter	3209	HOXA13	ORPHA:2438
HP:0000069	Abnormality of the ureter	4774	NFIA	OMIM:613735
HP:0000069	Abnormality of the ureter	79813	EHMT1	ORPHA:96147
HP:0000069	Abnormality of the ureter	79813	EHMT1	ORPHA:261652
HP:0000069	Abnormality of the ureter	10992	SF3B2	OMIM:164210
HP:0000069	Abnormality of the ureter	85358	SHANK3	OMIM:606232
HP:0000069	Abnormality of the ureter	85358	SHANK3	ORPHA:48652
HP:0000069	Abnormality of the ureter	1131	CHRM3	ORPHA:2970
HP:0000069	Abnormality of the ureter	57167	SALL4	OMIM:607323
HP:0000069	Abnormality of the ureter	57167	SALL4	ORPHA:959
HP:0000069	Abnormality of the ureter	8626	TP63	OMIM:604292
HP:0000069	Abnormality of the ureter	8626	TP63	ORPHA:93930
HP:0000069	Abnormality of the ureter	8626	TP63	ORPHA:1896
HP:0000069	Abnormality of the ureter	81839	VANGL1	ORPHA:3027
HP:0000069	Abnormality of the ureter	80199	FUZ	ORPHA:3027
HP:0000069	Abnormality of the ureter	64324	NSD1	ORPHA:821
HP:0000069	Abnormality of the ureter	29072	SETD2	ORPHA:821
HP:0000069	Abnormality of the ureter	10297	APC2	ORPHA:821
HP:0000069	Abnormality of the ureter	5447	POR	ORPHA:95699
HP:0000069	Abnormality of the ureter	55593	OTUD5	OMIM:301056
HP:0000069	Abnormality of the ureter	3190	HNRNPK	ORPHA:453504
HP:0000069	Abnormality of the ureter	3190	HNRNPK	OMIM:616580
HP:0000069	Abnormality of the ureter	3190	HNRNPK	ORPHA:352665
HP:0000069	Abnormality of the ureter	27125	AFF4	ORPHA:444077
HP:0000069	Abnormality of the ureter	27125	AFF4	OMIM:616368
HP:0000069	Abnormality of the ureter	80114	BICC1	OMIM:601331
HP:0000069	Abnormality of the ureter	6299	SALL1	OMIM:107480
HP:0000069	Abnormality of the ureter	6299	SALL1	ORPHA:857
HP:0000069	Abnormality of the ureter	4281	MID1	OMIM:300000
HP:0000069	Abnormality of the ureter	4281	MID1	ORPHA:2745
HP:0000069	Abnormality of the ureter	23498	HAAO	OMIM:617660
HP:0000069	Abnormality of the ureter	1387	CREBBP	ORPHA:353281
HP:0000069	Abnormality of the ureter	1387	CREBBP	ORPHA:353277
HP:0000069	Abnormality of the ureter	51506	UFC1	OMIM:618076
HP:0000069	Abnormality of the ureter	473	RERE	OMIM:616975
HP:0000069	Abnormality of the ureter	473	RERE	ORPHA:494344
HP:0000069	Abnormality of the ureter	3313	HSPA9	OMIM:616854
HP:0000069	Abnormality of the ureter	55215	FANCI	OMIM:609053
HP:0000069	Abnormality of the ureter	72	ACTG2	ORPHA:2604
HP:0000069	Abnormality of the ureter	72	ACTG2	OMIM:155310
HP:0000069	Abnormality of the ureter	2033	EP300	ORPHA:353284
HP:0000069	Abnormality of the ureter	9915	ARNT2	OMIM:615926
HP:0000069	Abnormality of the ureter	5080	PAX6	ORPHA:137902
HP:0000069	Abnormality of the ureter	5080	PAX6	OMIM:120200
HP:0000069	Abnormality of the ureter	6092	ROBO2	OMIM:610878
HP:0000069	Abnormality of the ureter	55636	CHD7	ORPHA:138
HP:0000069	Abnormality of the ureter	9723	SEMA3E	ORPHA:138
HP:0000069	Abnormality of the ureter	2188	FANCF	OMIM:603467
HP:0000069	Abnormality of the ureter	23005	MAPKBP1	OMIM:617271
HP:0000069	Abnormality of the ureter	2263	FGFR2	ORPHA:93260
HP:0000069	Abnormality of the ureter	2263	FGFR2	ORPHA:2363
HP:0000069	Abnormality of the ureter	51473	DCDC2	OMIM:617394
HP:0000069	Abnormality of the ureter	284058	KANSL1	ORPHA:363958
HP:0000069	Abnormality of the ureter	284058	KANSL1	ORPHA:363965
HP:0000069	Abnormality of the ureter	284058	KANSL1	OMIM:610443
HP:0000069	Abnormality of the ureter	1136	CHRNA3	OMIM:191800
HP:0000069	Abnormality of the ureter	9401	RECQL4	ORPHA:1225
HP:0000069	Abnormality of the ureter	10616	RBCK1	OMIM:615895
HP:0000069	Abnormality of the ureter	1108	CHD4	OMIM:617159
HP:0000069	Abnormality of the ureter	7080	NKX2-1	ORPHA:209905
HP:0000069	Abnormality of the ureter	1312	COMT	ORPHA:567
HP:0000069	Abnormality of the ureter	221037	JMJD1C	ORPHA:567
HP:0000069	Abnormality of the ureter	2812	GP1BB	ORPHA:567
HP:0000069	Abnormality of the ureter	6239	RREB1	ORPHA:567
HP:0000069	Abnormality of the ureter	6899	TBX1	ORPHA:567
HP:0000069	Abnormality of the ureter	7290	HIRA	ORPHA:567
HP:0000069	Abnormality of the ureter	9632	SEC24C	ORPHA:567
HP:0000069	Abnormality of the ureter	7353	UFD1	ORPHA:567
HP:0000069	Abnormality of the ureter	421	ARVCF	ORPHA:567
HP:0000069	Abnormality of the ureter	3670	ISL1	ORPHA:93930
HP:0000069	Abnormality of the ureter	25778	DSTYK	OMIM:610805
HP:0000069	Abnormality of the ureter	22827	PUF60	ORPHA:508488
HP:0000069	Abnormality of the ureter	9839	ZEB2	ORPHA:261552
HP:0000069	Abnormality of the ureter	9839	ZEB2	ORPHA:261537
HP:0000069	Abnormality of the ureter	10524	KAT5	OMIM:619103
HP:0000069	Abnormality of the ureter	1656	DDX6	OMIM:618653
HP:0000069	Abnormality of the ureter	5718	PSMD12	ORPHA:529962
HP:0000069	Abnormality of the ureter	2186	BPTF	ORPHA:529962
HP:0000069	Abnormality of the ureter	5277	PIGA	OMIM:300868
HP:0000069	Abnormality of the ureter	6885	MAP3K7	OMIM:157800
HP:0000069	Abnormality of the ureter	57178	ZMIZ1	OMIM:618659
HP:0000069	Abnormality of the ureter	8550	MAPKAPK5	OMIM:619869
HP:0000069	Abnormality of the ureter	60495	HPSE2	ORPHA:2704
HP:0000069	Abnormality of the ureter	54496	PRMT7	ORPHA:464288
HP:0000069	Abnormality of the ureter	3192	HNRNPU	ORPHA:238769
HP:0000069	Abnormality of the ureter	23476	BRD4	ORPHA:199
HP:0000069	Abnormality of the ureter	9126	SMC3	ORPHA:199
HP:0000069	Abnormality of the ureter	8243	SMC1A	ORPHA:199
HP:0000069	Abnormality of the ureter	25836	NIPBL	ORPHA:199
HP:0000069	Abnormality of the ureter	25836	NIPBL	OMIM:122470
HP:0000069	Abnormality of the ureter	55869	HDAC8	ORPHA:199
HP:0000069	Abnormality of the ureter	5885	RAD21	ORPHA:199
HP:0000069	Abnormality of the ureter	5885	RAD21	OMIM:611376
HP:0000069	Abnormality of the ureter	4613	MYCN	ORPHA:391641
HP:0000069	Abnormality of the ureter	253738	EBF3	OMIM:617330
HP:0000069	Abnormality of the ureter	5530	PPP3CA	OMIM:618265
HP:0000069	Abnormality of the ureter	6135	RPL11	OMIM:612562
HP:0000069	Abnormality of the ureter	92002	CCNQ	OMIM:300707
HP:0000069	Abnormality of the ureter	92002	CCNQ	ORPHA:140952
HP:0000069	Abnormality of the ureter	6804	STX1A	ORPHA:904
HP:0000069	Abnormality of the ureter	7461	CLIP2	ORPHA:904
HP:0000069	Abnormality of the ureter	84277	DNAJC30	ORPHA:904
HP:0000069	Abnormality of the ureter	8468	FKBP6	ORPHA:904
HP:0000069	Abnormality of the ureter	5982	RFC2	ORPHA:904
HP:0000069	Abnormality of the ureter	2969	GTF2I	ORPHA:904
HP:0000069	Abnormality of the ureter	3984	LIMK1	ORPHA:904
HP:0000069	Abnormality of the ureter	9569	GTF2IRD1	ORPHA:904
HP:0000069	Abnormality of the ureter	155382	VPS37D	ORPHA:904
HP:0000069	Abnormality of the ureter	155368	METTL27	ORPHA:904
HP:0000069	Abnormality of the ureter	114049	BUD23	ORPHA:904
HP:0000069	Abnormality of the ureter	7458	EIF4H	ORPHA:904
HP:0000069	Abnormality of the ureter	84163	GTF2IRD2	ORPHA:904
HP:0000069	Abnormality of the ureter	9275	BCL7B	ORPHA:904
HP:0000069	Abnormality of the ureter	26608	TBL2	ORPHA:904
HP:0000069	Abnormality of the ureter	653361	NCF1	ORPHA:904
HP:0000069	Abnormality of the ureter	135886	TMEM270	ORPHA:904
HP:0000069	Abnormality of the ureter	51085	MLXIPL	ORPHA:904
HP:0000069	Abnormality of the ureter	51085	MLXIPL	OMIM:194050
HP:0000069	Abnormality of the ureter	9031	BAZ1B	ORPHA:904
HP:0000069	Abnormality of the ureter	2006	ELN	ORPHA:904
HP:0000069	Abnormality of the ureter	2006	ELN	OMIM:194050
HP:0000069	Abnormality of the ureter	9091	PIGQ	OMIM:618548
HP:0000069	Abnormality of the ureter	84720	PIGO	OMIM:614749
HP:0000069	Abnormality of the ureter	54796	BNC2	ORPHA:93110
HP:0000069	Abnormality of the ureter	54796	BNC2	OMIM:618612
HP:0000069	Abnormality of the ureter	8405	SPOP	OMIM:618828
HP:0000069	Abnormality of the ureter	147912	SIX5	ORPHA:107
HP:0000069	Abnormality of the ureter	2131	EXT1	ORPHA:502
HP:0000069	Abnormality of the ureter	7227	TRPS1	ORPHA:502
HP:0000069	Abnormality of the ureter	8204	NRIP1	OMIM:618270
HP:0000069	Abnormality of the ureter	58508	KMT2C	ORPHA:261652
HP:0000069	Abnormality of the ureter	8318	CDC45	OMIM:617063
HP:0000069	Abnormality of the ureter	253959	RALGAPA1	OMIM:618797
HP:0000069	Abnormality of the ureter	1857	DVL3	OMIM:616894
HP:0000069	Abnormality of the ureter	51339	DACT1	OMIM:617466
HP:0000069	Abnormality of the ureter	51339	DACT1	ORPHA:857
HP:0000069	Abnormality of the ureter	7148	TNXB	OMIM:615963
HP:0000069	Abnormality of the ureter	7148	TNXB	OMIM:606408
HP:0000069	Abnormality of the ureter	3110	MNX1	ORPHA:1552
HP:0000069	Abnormality of the ureter	3110	MNX1	OMIM:176450
HP:0000069	Abnormality of the ureter	182	JAG1	OMIM:118450
HP:0000069	Abnormality of the ureter	2261	FGFR3	ORPHA:2363
HP:0000069	Abnormality of the ureter	2255	FGF10	ORPHA:2363
HP:0000069	Abnormality of the ureter	2316	FLNA	ORPHA:2484
HP:0000069	Abnormality of the ureter	11128	POLR3A	ORPHA:3455
HP:0000069	Abnormality of the ureter	9968	MED12	OMIM:301068
HP:0000069	Abnormality of the ureter	64220	STRA6	ORPHA:2470
HP:0000069	Abnormality of the ureter	5915	RARB	ORPHA:2470
HP:0000069	Abnormality of the ureter	1028	CDKN1C	OMIM:130650
HP:0000069	Abnormality of the ureter	10984	KCNQ1OT1	OMIM:130650
HP:0000069	Abnormality of the ureter	3481	IGF2	OMIM:130650
HP:0000069	Abnormality of the ureter	3784	KCNQ1	OMIM:130650
HP:0000069	Abnormality of the ureter	51360	MBTPS2	ORPHA:85284
HP:0000069	Abnormality of the ureter	546	ATRX	OMIM:309580
HP:0000069	Abnormality of the ureter	2625	GATA3	ORPHA:2237
HP:0000069	Abnormality of the ureter	6389	SDHA	ORPHA:3208
HP:0000069	Abnormality of the ureter	6390	SDHB	ORPHA:3208
HP:0000069	Abnormality of the ureter	6392	SDHD	ORPHA:3208
HP:0000069	Abnormality of the ureter	644096	SDHAF1	ORPHA:3208
HP:0000069	Abnormality of the ureter	4052	LTBP1	ORPHA:90349
HP:0000069	Abnormality of the ureter	30008	EFEMP2	ORPHA:90349
HP:0000069	Abnormality of the ureter	10516	FBLN5	ORPHA:90349
HP:0000069	Abnormality of the ureter	9939	RBM8A	OMIM:274000
HP:0000069	Abnormality of the ureter	147372	CCBE1	OMIM:235510
HP:0000069	Abnormality of the ureter	9276	COPB2	ORPHA:2512
HP:0000069	Abnormality of the ureter	11113	CIT	ORPHA:2512
HP:0000069	Abnormality of the ureter	9928	KIF14	ORPHA:2512
HP:0000069	Abnormality of the ureter	22995	CEP152	ORPHA:2512
HP:0000069	Abnormality of the ureter	284403	WDR62	ORPHA:2512
HP:0000069	Abnormality of the ureter	55262	TRAPPC14	ORPHA:2512
HP:0000069	Abnormality of the ureter	163786	SASS6	ORPHA:2512
HP:0000069	Abnormality of the ureter	29920	PYCR2	ORPHA:2512
HP:0000069	Abnormality of the ureter	84879	MFSD2A	ORPHA:2512
HP:0000069	Abnormality of the ureter	4176	MCM7	ORPHA:2512
HP:0000069	Abnormality of the ureter	80254	CEP63	ORPHA:2512
HP:0000069	Abnormality of the ureter	29081	METTL5	ORPHA:2512
HP:0000069	Abnormality of the ureter	23310	NCAPD3	ORPHA:2512
HP:0000069	Abnormality of the ureter	55755	CDK5RAP2	ORPHA:2512
HP:0000069	Abnormality of the ureter	79648	MCPH1	ORPHA:2512
HP:0000069	Abnormality of the ureter	6491	STIL	ORPHA:2512
HP:0000069	Abnormality of the ureter	23141	ANKLE2	ORPHA:2512
HP:0000069	Abnormality of the ureter	259266	ASPM	ORPHA:2512
HP:0000069	Abnormality of the ureter	7109	TRAPPC10	ORPHA:2512
HP:0000069	Abnormality of the ureter	1911	PHC1	ORPHA:2512
HP:0000069	Abnormality of the ureter	6884	TAF13	ORPHA:2512
HP:0000069	Abnormality of the ureter	9662	CEP135	ORPHA:2512
HP:0000069	Abnormality of the ureter	55835	CENPJ	ORPHA:2512
HP:0000069	Abnormality of the ureter	57082	KNL1	ORPHA:2512
HP:0000069	Abnormality of the ureter	1021	CDK6	ORPHA:2512
HP:0000069	Abnormality of the ureter	171023	ASXL1	OMIM:605039
HP:0000069	Abnormality of the ureter	8295	TRRAP	OMIM:618454
HP:0000069	Abnormality of the ureter	7319	UBE2A	ORPHA:163956
HP:0000069	Abnormality of the ureter	80000	GREB1L	OMIM:617805
HP:0000069	Abnormality of the ureter	55191	NADSYN1	OMIM:618845
HP:0000069	Abnormality of the ureter	57724	EPG5	ORPHA:1493
HP:0000069	Abnormality of the ureter	27031	NPHP3	OMIM:208540
HP:0000069	Abnormality of the ureter	538	ATP7A	OMIM:304150
HP:0000069	Abnormality of the ureter	9380	GRHPR	ORPHA:93599
HP:0000069	Abnormality of the ureter	23556	PIGN	ORPHA:280633
HP:0000069	Abnormality of the ureter	9096	TBX18	OMIM:143400
HP:0000069	Abnormality of the ureter	51604	PIGT	ORPHA:369837
HP:0000069	Abnormality of the ureter	23426	GRIP1	OMIM:617667
HP:0000069	Abnormality of the ureter	341640	FREM2	OMIM:617666
HP:0000069	Abnormality of the ureter	55165	CEP55	OMIM:236500
HP:0000069	Abnormality of the ureter	80781	COL18A1	OMIM:267750
HP:0000069	Abnormality of the ureter	80781	COL18A1	ORPHA:1571
HP:0000069	Abnormality of the ureter	9158	FIBP	OMIM:617107
HP:0000069	Abnormality of the ureter	9158	FIBP	ORPHA:500095
HP:0000069	Abnormality of the ureter	64840	PORCN	OMIM:305600
HP:0000069	Abnormality of the ureter	5062	PAK2	ORPHA:1571
HP:0000069	Abnormality of the ureter	5087	PBX1	OMIM:617641
HP:0000069	Abnormality of the ureter	79796	ALG9	ORPHA:79328
HP:0000069	Abnormality of the ureter	55898	UNC45A	OMIM:619377
HP:0000069	Abnormality of the ureter	7750	ZMYM2	OMIM:619522
HP:0000069	Abnormality of the ureter	64321	SOX17	OMIM:613674
HP:0000069	Abnormality of the ureter	353	APRT	OMIM:614723
HP:0000069	Abnormality of the ureter	5631	PRPS1	OMIM:300661
HP:0000069	Abnormality of the ureter	116085	SLC22A12	OMIM:220150
HP:0000076	Vesicoureteral reflux	25970	SH2B1	ORPHA:261222
HP:0000076	Vesicoureteral reflux	5076	PAX2	ORPHA:97362
HP:0000076	Vesicoureteral reflux	5076	PAX2	ORPHA:1475
HP:0000076	Vesicoureteral reflux	5076	PAX2	OMIM:120330
HP:0000076	Vesicoureteral reflux	5087	PBX1	ORPHA:97362
HP:0000076	Vesicoureteral reflux	5087	PBX1	OMIM:617641
HP:0000076	Vesicoureteral reflux	10617	STAMBP	OMIM:614261
HP:0000076	Vesicoureteral reflux	8294	H4C9	OMIM:619951
HP:0000076	Vesicoureteral reflux	2138	EYA1	OMIM:113650
HP:0000076	Vesicoureteral reflux	2138	EYA1	ORPHA:107
HP:0000076	Vesicoureteral reflux	6495	SIX1	OMIM:113650
HP:0000076	Vesicoureteral reflux	6495	SIX1	OMIM:605192
HP:0000076	Vesicoureteral reflux	6495	SIX1	ORPHA:107
HP:0000076	Vesicoureteral reflux	54892	NCAPG2	OMIM:618460
HP:0000076	Vesicoureteral reflux	9860	LRIG2	OMIM:615112
HP:0000076	Vesicoureteral reflux	9860	LRIG2	ORPHA:2704
HP:0000076	Vesicoureteral reflux	26128	KIFBP	OMIM:609460
HP:0000076	Vesicoureteral reflux	23556	PIGN	ORPHA:2059
HP:0000076	Vesicoureteral reflux	23556	PIGN	OMIM:614080
HP:0000076	Vesicoureteral reflux	1788	DNMT3A	OMIM:615879
HP:0000076	Vesicoureteral reflux	5361	PLXNA1	OMIM:619955
HP:0000076	Vesicoureteral reflux	3209	HOXA13	OMIM:140000
HP:0000076	Vesicoureteral reflux	3209	HOXA13	ORPHA:2438
HP:0000076	Vesicoureteral reflux	4774	NFIA	OMIM:613735
HP:0000076	Vesicoureteral reflux	79813	EHMT1	ORPHA:96147
HP:0000076	Vesicoureteral reflux	79813	EHMT1	ORPHA:261652
HP:0000076	Vesicoureteral reflux	10992	SF3B2	OMIM:164210
HP:0000076	Vesicoureteral reflux	85358	SHANK3	OMIM:606232
HP:0000076	Vesicoureteral reflux	85358	SHANK3	ORPHA:48652
HP:0000076	Vesicoureteral reflux	1131	CHRM3	ORPHA:2970
HP:0000076	Vesicoureteral reflux	57167	SALL4	OMIM:607323
HP:0000076	Vesicoureteral reflux	57167	SALL4	ORPHA:959
HP:0000076	Vesicoureteral reflux	8626	TP63	OMIM:604292
HP:0000076	Vesicoureteral reflux	8626	TP63	ORPHA:93930
HP:0000076	Vesicoureteral reflux	8626	TP63	ORPHA:1896
HP:0000076	Vesicoureteral reflux	81839	VANGL1	ORPHA:3027
HP:0000076	Vesicoureteral reflux	80199	FUZ	ORPHA:3027
HP:0000076	Vesicoureteral reflux	64324	NSD1	ORPHA:821
HP:0000076	Vesicoureteral reflux	29072	SETD2	ORPHA:821
HP:0000076	Vesicoureteral reflux	10297	APC2	ORPHA:821
HP:0000076	Vesicoureteral reflux	5447	POR	ORPHA:95699
HP:0000076	Vesicoureteral reflux	55593	OTUD5	OMIM:301056
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	ORPHA:453504
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	OMIM:616580
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	ORPHA:352665
HP:0000076	Vesicoureteral reflux	27125	AFF4	ORPHA:444077
HP:0000076	Vesicoureteral reflux	27125	AFF4	OMIM:616368
HP:0000076	Vesicoureteral reflux	80114	BICC1	OMIM:601331
HP:0000076	Vesicoureteral reflux	6299	SALL1	OMIM:107480
HP:0000076	Vesicoureteral reflux	6299	SALL1	ORPHA:857
HP:0000076	Vesicoureteral reflux	4281	MID1	OMIM:300000
HP:0000076	Vesicoureteral reflux	4281	MID1	ORPHA:2745
HP:0000076	Vesicoureteral reflux	23498	HAAO	OMIM:617660
HP:0000076	Vesicoureteral reflux	1387	CREBBP	ORPHA:353281
HP:0000076	Vesicoureteral reflux	1387	CREBBP	ORPHA:353277
HP:0000076	Vesicoureteral reflux	51506	UFC1	OMIM:618076
HP:0000076	Vesicoureteral reflux	473	RERE	OMIM:616975
HP:0000076	Vesicoureteral reflux	473	RERE	ORPHA:494344
HP:0000076	Vesicoureteral reflux	3313	HSPA9	OMIM:616854
HP:0000076	Vesicoureteral reflux	55215	FANCI	OMIM:609053
HP:0000076	Vesicoureteral reflux	72	ACTG2	ORPHA:2604
HP:0000076	Vesicoureteral reflux	72	ACTG2	OMIM:155310
HP:0000076	Vesicoureteral reflux	2033	EP300	ORPHA:353284
HP:0000076	Vesicoureteral reflux	9915	ARNT2	OMIM:615926
HP:0000076	Vesicoureteral reflux	5080	PAX6	ORPHA:137902
HP:0000076	Vesicoureteral reflux	5080	PAX6	OMIM:120200
HP:0000076	Vesicoureteral reflux	6092	ROBO2	OMIM:610878
HP:0000076	Vesicoureteral reflux	55636	CHD7	ORPHA:138
HP:0000076	Vesicoureteral reflux	9723	SEMA3E	ORPHA:138
HP:0000076	Vesicoureteral reflux	2188	FANCF	OMIM:603467
HP:0000076	Vesicoureteral reflux	23005	MAPKBP1	OMIM:617271
HP:0000076	Vesicoureteral reflux	2263	FGFR2	ORPHA:93260
HP:0000076	Vesicoureteral reflux	2263	FGFR2	ORPHA:2363
HP:0000076	Vesicoureteral reflux	51473	DCDC2	OMIM:617394
HP:0000076	Vesicoureteral reflux	284058	KANSL1	ORPHA:363958
HP:0000076	Vesicoureteral reflux	284058	KANSL1	ORPHA:363965
HP:0000076	Vesicoureteral reflux	284058	KANSL1	OMIM:610443
HP:0000076	Vesicoureteral reflux	1136	CHRNA3	OMIM:191800
HP:0000076	Vesicoureteral reflux	9401	RECQL4	ORPHA:1225
HP:0000076	Vesicoureteral reflux	10616	RBCK1	OMIM:615895
HP:0000076	Vesicoureteral reflux	1108	CHD4	OMIM:617159
HP:0000076	Vesicoureteral reflux	7080	NKX2-1	ORPHA:209905
HP:0000076	Vesicoureteral reflux	1312	COMT	ORPHA:567
HP:0000076	Vesicoureteral reflux	221037	JMJD1C	ORPHA:567
HP:0000076	Vesicoureteral reflux	2812	GP1BB	ORPHA:567
HP:0000076	Vesicoureteral reflux	6239	RREB1	ORPHA:567
HP:0000076	Vesicoureteral reflux	6899	TBX1	ORPHA:567
HP:0000076	Vesicoureteral reflux	7290	HIRA	ORPHA:567
HP:0000076	Vesicoureteral reflux	9632	SEC24C	ORPHA:567
HP:0000076	Vesicoureteral reflux	7353	UFD1	ORPHA:567
HP:0000076	Vesicoureteral reflux	421	ARVCF	ORPHA:567
HP:0000076	Vesicoureteral reflux	3670	ISL1	ORPHA:93930
HP:0000076	Vesicoureteral reflux	25778	DSTYK	OMIM:610805
HP:0000076	Vesicoureteral reflux	22827	PUF60	ORPHA:508488
HP:0000076	Vesicoureteral reflux	9839	ZEB2	ORPHA:261552
HP:0000076	Vesicoureteral reflux	9839	ZEB2	ORPHA:261537
HP:0000076	Vesicoureteral reflux	10524	KAT5	OMIM:619103
HP:0000076	Vesicoureteral reflux	1656	DDX6	OMIM:618653
HP:0000076	Vesicoureteral reflux	5718	PSMD12	ORPHA:529962
HP:0000076	Vesicoureteral reflux	2186	BPTF	ORPHA:529962
HP:0000076	Vesicoureteral reflux	5277	PIGA	OMIM:300868
HP:0000076	Vesicoureteral reflux	6885	MAP3K7	OMIM:157800
HP:0000076	Vesicoureteral reflux	57178	ZMIZ1	OMIM:618659
HP:0000076	Vesicoureteral reflux	8550	MAPKAPK5	OMIM:619869
HP:0000076	Vesicoureteral reflux	60495	HPSE2	ORPHA:2704
HP:0000076	Vesicoureteral reflux	80781	COL18A1	ORPHA:1571
HP:0000076	Vesicoureteral reflux	5062	PAK2	ORPHA:1571
HP:0000076	Vesicoureteral reflux	54496	PRMT7	ORPHA:464288
HP:0000076	Vesicoureteral reflux	3192	HNRNPU	ORPHA:238769
HP:0000076	Vesicoureteral reflux	23476	BRD4	ORPHA:199
HP:0000076	Vesicoureteral reflux	9126	SMC3	ORPHA:199
HP:0000076	Vesicoureteral reflux	8243	SMC1A	ORPHA:199
HP:0000076	Vesicoureteral reflux	25836	NIPBL	ORPHA:199
HP:0000076	Vesicoureteral reflux	25836	NIPBL	OMIM:122470
HP:0000076	Vesicoureteral reflux	55869	HDAC8	ORPHA:199
HP:0000076	Vesicoureteral reflux	5885	RAD21	ORPHA:199
HP:0000076	Vesicoureteral reflux	5885	RAD21	OMIM:611376
HP:0000076	Vesicoureteral reflux	4613	MYCN	ORPHA:391641
HP:0000076	Vesicoureteral reflux	253738	EBF3	OMIM:617330
HP:0000076	Vesicoureteral reflux	5530	PPP3CA	OMIM:618265
HP:0000076	Vesicoureteral reflux	6135	RPL11	OMIM:612562
HP:0000076	Vesicoureteral reflux	92002	CCNQ	OMIM:300707
HP:0000076	Vesicoureteral reflux	92002	CCNQ	ORPHA:140952
HP:0000076	Vesicoureteral reflux	6804	STX1A	ORPHA:904
HP:0000076	Vesicoureteral reflux	7461	CLIP2	ORPHA:904
HP:0000076	Vesicoureteral reflux	84277	DNAJC30	ORPHA:904
HP:0000076	Vesicoureteral reflux	8468	FKBP6	ORPHA:904
HP:0000076	Vesicoureteral reflux	5982	RFC2	ORPHA:904
HP:0000076	Vesicoureteral reflux	2969	GTF2I	ORPHA:904
HP:0000076	Vesicoureteral reflux	3984	LIMK1	ORPHA:904
HP:0000076	Vesicoureteral reflux	9569	GTF2IRD1	ORPHA:904
HP:0000076	Vesicoureteral reflux	155382	VPS37D	ORPHA:904
HP:0000076	Vesicoureteral reflux	155368	METTL27	ORPHA:904
HP:0000076	Vesicoureteral reflux	114049	BUD23	ORPHA:904
HP:0000076	Vesicoureteral reflux	7458	EIF4H	ORPHA:904
HP:0000076	Vesicoureteral reflux	84163	GTF2IRD2	ORPHA:904
HP:0000076	Vesicoureteral reflux	9275	BCL7B	ORPHA:904
HP:0000076	Vesicoureteral reflux	26608	TBL2	ORPHA:904
HP:0000076	Vesicoureteral reflux	653361	NCF1	ORPHA:904
HP:0000076	Vesicoureteral reflux	135886	TMEM270	ORPHA:904
HP:0000076	Vesicoureteral reflux	51085	MLXIPL	ORPHA:904
HP:0000076	Vesicoureteral reflux	51085	MLXIPL	OMIM:194050
HP:0000076	Vesicoureteral reflux	9031	BAZ1B	ORPHA:904
HP:0000076	Vesicoureteral reflux	2006	ELN	ORPHA:904
HP:0000076	Vesicoureteral reflux	2006	ELN	OMIM:194050
HP:0000076	Vesicoureteral reflux	9091	PIGQ	OMIM:618548
HP:0000076	Vesicoureteral reflux	84720	PIGO	OMIM:614749
HP:0000076	Vesicoureteral reflux	54796	BNC2	ORPHA:93110
HP:0000076	Vesicoureteral reflux	54796	BNC2	OMIM:618612
HP:0000076	Vesicoureteral reflux	8405	SPOP	OMIM:618828
HP:0000076	Vesicoureteral reflux	147912	SIX5	ORPHA:107
HP:0000076	Vesicoureteral reflux	2131	EXT1	ORPHA:502
HP:0000076	Vesicoureteral reflux	7227	TRPS1	ORPHA:502
HP:0000076	Vesicoureteral reflux	8204	NRIP1	OMIM:618270
HP:0000076	Vesicoureteral reflux	58508	KMT2C	ORPHA:261652
HP:0000076	Vesicoureteral reflux	8318	CDC45	OMIM:617063
HP:0000076	Vesicoureteral reflux	253959	RALGAPA1	OMIM:618797
HP:0000076	Vesicoureteral reflux	1857	DVL3	OMIM:616894
HP:0000076	Vesicoureteral reflux	51339	DACT1	OMIM:617466
HP:0000076	Vesicoureteral reflux	51339	DACT1	ORPHA:857
HP:0000076	Vesicoureteral reflux	7148	TNXB	OMIM:615963
HP:0000076	Vesicoureteral reflux	7148	TNXB	OMIM:606408
HP:0000076	Vesicoureteral reflux	3110	MNX1	ORPHA:1552
HP:0000076	Vesicoureteral reflux	3110	MNX1	OMIM:176450
HP:0000076	Vesicoureteral reflux	182	JAG1	OMIM:118450
HP:0000076	Vesicoureteral reflux	2261	FGFR3	ORPHA:2363
HP:0000076	Vesicoureteral reflux	2255	FGF10	ORPHA:2363
HP:0000076	Vesicoureteral reflux	2316	FLNA	ORPHA:2484
HP:0000076	Vesicoureteral reflux	11128	POLR3A	ORPHA:3455
HP:0000076	Vesicoureteral reflux	9968	MED12	OMIM:301068
HP:0000076	Vesicoureteral reflux	64220	STRA6	ORPHA:2470
HP:0000076	Vesicoureteral reflux	5915	RARB	ORPHA:2470
HP:0000076	Vesicoureteral reflux	1028	CDKN1C	OMIM:130650
HP:0000076	Vesicoureteral reflux	10984	KCNQ1OT1	OMIM:130650
HP:0000076	Vesicoureteral reflux	3481	IGF2	OMIM:130650
HP:0000076	Vesicoureteral reflux	3784	KCNQ1	OMIM:130650
HP:0000076	Vesicoureteral reflux	51360	MBTPS2	ORPHA:85284
HP:0000076	Vesicoureteral reflux	546	ATRX	OMIM:309580
HP:0000076	Vesicoureteral reflux	2625	GATA3	ORPHA:2237
HP:0000076	Vesicoureteral reflux	6389	SDHA	ORPHA:3208
HP:0000076	Vesicoureteral reflux	6390	SDHB	ORPHA:3208
HP:0000076	Vesicoureteral reflux	6392	SDHD	ORPHA:3208
HP:0000076	Vesicoureteral reflux	644096	SDHAF1	ORPHA:3208
HP:0000076	Vesicoureteral reflux	4052	LTBP1	ORPHA:90349
HP:0000076	Vesicoureteral reflux	30008	EFEMP2	ORPHA:90349
HP:0000076	Vesicoureteral reflux	10516	FBLN5	ORPHA:90349
HP:0000076	Vesicoureteral reflux	9939	RBM8A	OMIM:274000
HP:0000076	Vesicoureteral reflux	147372	CCBE1	OMIM:235510
HP:0000076	Vesicoureteral reflux	9276	COPB2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	11113	CIT	ORPHA:2512
HP:0000076	Vesicoureteral reflux	9928	KIF14	ORPHA:2512
HP:0000076	Vesicoureteral reflux	22995	CEP152	ORPHA:2512
HP:0000076	Vesicoureteral reflux	284403	WDR62	ORPHA:2512
HP:0000076	Vesicoureteral reflux	55262	TRAPPC14	ORPHA:2512
HP:0000076	Vesicoureteral reflux	163786	SASS6	ORPHA:2512
HP:0000076	Vesicoureteral reflux	29920	PYCR2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	84879	MFSD2A	ORPHA:2512
HP:0000076	Vesicoureteral reflux	4176	MCM7	ORPHA:2512
HP:0000076	Vesicoureteral reflux	80254	CEP63	ORPHA:2512
HP:0000076	Vesicoureteral reflux	29081	METTL5	ORPHA:2512
HP:0000076	Vesicoureteral reflux	23310	NCAPD3	ORPHA:2512
HP:0000076	Vesicoureteral reflux	55755	CDK5RAP2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	79648	MCPH1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	6491	STIL	ORPHA:2512
HP:0000076	Vesicoureteral reflux	23141	ANKLE2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	259266	ASPM	ORPHA:2512
HP:0000076	Vesicoureteral reflux	7109	TRAPPC10	ORPHA:2512
HP:0000076	Vesicoureteral reflux	1911	PHC1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	6884	TAF13	ORPHA:2512
HP:0000076	Vesicoureteral reflux	9662	CEP135	ORPHA:2512
HP:0000076	Vesicoureteral reflux	55835	CENPJ	ORPHA:2512
HP:0000076	Vesicoureteral reflux	57082	KNL1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	1021	CDK6	ORPHA:2512
HP:0000076	Vesicoureteral reflux	171023	ASXL1	OMIM:605039
HP:0000076	Vesicoureteral reflux	8295	TRRAP	OMIM:618454
HP:0000076	Vesicoureteral reflux	7319	UBE2A	ORPHA:163956
HP:0000076	Vesicoureteral reflux	80000	GREB1L	OMIM:617805
HP:0000076	Vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0000076	Vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0000076	Vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0000072	Hydroureter	5337	PLD1	OMIM:212093
HP:0000072	Hydroureter	9653	HS2ST1	OMIM:619194
HP:0000072	Hydroureter	2294	FOXF1	OMIM:265380
HP:0000072	Hydroureter	4638	MYLK	OMIM:249210
HP:0000072	Hydroureter	4638	MYLK	ORPHA:2241
HP:0000072	Hydroureter	8260	NAA10	OMIM:309800
HP:0000072	Hydroureter	8260	NAA10	ORPHA:568
HP:0000072	Hydroureter	54880	BCOR	OMIM:309800
HP:0000072	Hydroureter	54880	BCOR	ORPHA:568
HP:0000072	Hydroureter	51604	PIGT	OMIM:615398
HP:0000072	Hydroureter	72	ACTG2	OMIM:619431
HP:0000072	Hydroureter	72	ACTG2	ORPHA:2604
HP:0000072	Hydroureter	72	ACTG2	ORPHA:2241
HP:0000072	Hydroureter	54101	RIPK4	ORPHA:1401
HP:0000072	Hydroureter	92002	CCNQ	OMIM:300707
HP:0000072	Hydroureter	1161	ERCC8	ORPHA:90324
HP:0000072	Hydroureter	2074	ERCC6	ORPHA:90324
HP:0000072	Hydroureter	1909	EDNRA	OMIM:616367
HP:0000072	Hydroureter	8195	MKKS	OMIM:236700
HP:0000072	Hydroureter	1131	CHRM3	ORPHA:2970
HP:0000072	Hydroureter	1131	CHRM3	OMIM:100100
HP:0000072	Hydroureter	8626	TP63	OMIM:604292
HP:0000072	Hydroureter	3909	LAMA3	ORPHA:79404
HP:0000072	Hydroureter	3918	LAMC2	ORPHA:79404
HP:0000072	Hydroureter	3914	LAMB3	ORPHA:79404
HP:0000072	Hydroureter	554	AVPR2	ORPHA:223
HP:0000072	Hydroureter	359	AQP2	ORPHA:223
HP:0000072	Hydroureter	23556	PIGN	ORPHA:280633
HP:0000072	Hydroureter	51715	RAB23	OMIM:201000
HP:0000072	Hydroureter	25802	LMOD1	OMIM:619362
HP:0000072	Hydroureter	25802	LMOD1	ORPHA:2241
HP:0000072	Hydroureter	4629	MYH11	ORPHA:2241
HP:0000072	Hydroureter	9126	SMC3	OMIM:610759
HP:0000072	Hydroureter	56975	FAM20C	OMIM:259775
HP:0000072	Hydroureter	9968	MED12	OMIM:301068
HP:0000072	Hydroureter	2316	FLNA	OMIM:305620
HP:0000072	Hydroureter	2239	GPC4	ORPHA:373
HP:0000072	Hydroureter	2719	GPC3	ORPHA:373
HP:0000072	Hydroureter	51360	MBTPS2	ORPHA:2273
HP:0000072	Hydroureter	57492	ARID1B	OMIM:135900
HP:0000072	Hydroureter	25915	NDUFAF3	OMIM:618240
HP:0000072	Hydroureter	100151683	RNU4ATAC	ORPHA:2636
HP:0000072	Hydroureter	64321	SOX17	OMIM:613674
HP:0000072	Hydroureter	672	BRCA1	ORPHA:84
HP:0000072	Hydroureter	10459	MAD2L2	ORPHA:84
HP:0000072	Hydroureter	7516	XRCC2	ORPHA:84
HP:0000072	Hydroureter	29089	UBE2T	ORPHA:84
HP:0000072	Hydroureter	675	BRCA2	ORPHA:84
HP:0000072	Hydroureter	55120	FANCL	ORPHA:84
HP:0000072	Hydroureter	2177	FANCD2	ORPHA:84
HP:0000072	Hydroureter	2175	FANCA	ORPHA:84
HP:0000072	Hydroureter	2187	FANCB	ORPHA:84
HP:0000072	Hydroureter	2176	FANCC	ORPHA:84
HP:0000072	Hydroureter	2178	FANCE	ORPHA:84
HP:0000072	Hydroureter	2188	FANCF	ORPHA:84
HP:0000072	Hydroureter	2189	FANCG	ORPHA:84
HP:0000072	Hydroureter	5888	RAD51	ORPHA:84
HP:0000072	Hydroureter	5889	RAD51C	ORPHA:84
HP:0000072	Hydroureter	55159	RFWD3	ORPHA:84
HP:0000072	Hydroureter	83990	BRIP1	ORPHA:84
HP:0000072	Hydroureter	57697	FANCM	ORPHA:84
HP:0000072	Hydroureter	79728	PALB2	ORPHA:84
HP:0000072	Hydroureter	84464	SLX4	ORPHA:84
HP:0000072	Hydroureter	2072	ERCC4	ORPHA:84
HP:0000072	Hydroureter	55215	FANCI	ORPHA:84
HP:0000072	Hydroureter	71	ACTG1	ORPHA:2995
HP:0000072	Hydroureter	60	ACTB	ORPHA:2995
HP:0000072	Hydroureter	5566	PRKACA	ORPHA:289
HP:0000072	Hydroureter	5567	PRKACB	ORPHA:289
HP:0000072	Hydroureter	2735	GLI1	ORPHA:289
HP:0000072	Hydroureter	2121	EVC	ORPHA:289
HP:0000072	Hydroureter	51626	DYNC2LI1	ORPHA:289
HP:0000072	Hydroureter	132884	EVC2	ORPHA:289
HP:0000072	Hydroureter	7466	WFS1	OMIM:222300
HP:0000072	Hydroureter	166379	BBS12	OMIM:615989
HP:0000072	Hydroureter	1642	DDB1	OMIM:619426
HP:0000072	Hydroureter	6655	SOS2	OMIM:616559
HP:0000072	Hydroureter	63895	PIEZO2	ORPHA:2461
HP:0000072	Hydroureter	9096	TBX18	OMIM:143400
HP:0000072	Hydroureter	26040	SETBP1	OMIM:269150
HP:0000072	Hydroureter	60495	HPSE2	OMIM:236730
HP:0000072	Hydroureter	2737	GLI3	OMIM:146510
HP:0000072	Hydroureter	9361	LONP1	ORPHA:1458
HP:0010047	Short 5th metacarpal	55612	FERMT1	ORPHA:2908
HP:0010047	Short 5th metacarpal	650	BMP2	OMIM:617877
HP:0010047	Short 5th metacarpal	5593	PRKG2	OMIM:619638
HP:0010047	Short 5th metacarpal	3930	LBR	OMIM:169400
HP:0010047	Short 5th metacarpal	3930	LBR	OMIM:618019
HP:0010047	Short 5th metacarpal	374969	SVBP	OMIM:618569
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79443
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79444
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79445
HP:0010047	Short 5th metacarpal	1302	COL11A2	OMIM:215150
HP:0010047	Short 5th metacarpal	10847	SRCAP	OMIM:136140
HP:0010047	Short 5th metacarpal	860	RUNX2	OMIM:156510
HP:0010047	Short 5th metacarpal	3239	HOXD13	ORPHA:93409
HP:0010047	Short 5th metacarpal	2316	FLNA	OMIM:311300
HP:0010047	Short 5th metacarpal	8823	FGF16	OMIM:309630
HP:0010047	Short 5th metacarpal	9241	NOG	OMIM:185800
HP:0006152	Proximal symphalangism of hands	9791	PTDSS1	OMIM:151050
HP:0006152	Proximal symphalangism of hands	22856	CHSY1	ORPHA:363417
HP:0006152	Proximal symphalangism of hands	9241	NOG	OMIM:186500
HP:0006152	Proximal symphalangism of hands	9241	NOG	OMIM:184460
HP:0006152	Proximal symphalangism of hands	4920	ROR2	OMIM:268310
HP:0006152	Proximal symphalangism of hands	8200	GDF5	OMIM:615298
HP:0006152	Proximal symphalangism of hands	727857	BHLHA9	OMIM:609432
HP:0006152	Proximal symphalangism of hands	10084	PQBP1	OMIM:309500
HP:0006152	Proximal symphalangism of hands	4841	NONO	OMIM:300967
HP:0006006	Hypotrophy of the small hand muscles	284058	KANSL1	OMIM:610443
HP:0006006	Hypotrophy of the small hand muscles	2316	FLNA	ORPHA:1826
HP:0006006	Hypotrophy of the small hand muscles	6885	MAP3K7	ORPHA:1826
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1311	COMP	ORPHA:750
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4920	ROR2	OMIM:268310
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5980	REV3L	ORPHA:570
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23129	PLXND1	ORPHA:570
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7476	WNT7A	OMIM:276820
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7476	WNT7A	OMIM:228930
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8626	TP63	OMIM:605289
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9719	ADAMTSL2	OMIM:231050
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2535	FZD2	OMIM:164745
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2535	FZD2	ORPHA:93328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23476	BRD4	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9126	SMC3	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8243	SMC1A	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25836	NIPBL	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55869	HDAC8	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5885	RAD21	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	90	ACVR1	OMIM:135100
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57020	VPS35L	OMIM:619135
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3209	HOXA13	OMIM:140000
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3209	HOXA13	ORPHA:2438
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55215	FANCI	OMIM:609053
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6662	SOX9	OMIM:114290
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5116	PCNT	OMIM:210720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26040	SETBP1	OMIM:269150
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26040	SETBP1	ORPHA:798
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	388015	RTL1	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8788	DLK1	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55384	MEG3	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3911	LAMA5	OMIM:620076
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	124583	CANT1	OMIM:251450
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7516	XRCC2	OMIM:617247
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2177	FANCD2	OMIM:227646
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9896	FIG4	ORPHA:3472
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55697	VAC14	ORPHA:3472
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6469	SHH	ORPHA:93321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7204	TRIO	ORPHA:476126
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2737	GLI3	ORPHA:93322
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	650	BMP2	ORPHA:93396
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	658	BMPR1B	ORPHA:93396
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	94005	PIGS	OMIM:618143
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6473	SHOX	OMIM:127300
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6736	SRY	ORPHA:1772
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	79633	FAT4	OMIM:615546
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8642	DCHS1	OMIM:601390
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26224	FBXL3	OMIM:606220
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5727	PTCH1	OMIM:109400
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6926	TBX3	OMIM:181450
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55612	FERMT1	ORPHA:2908
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	374969	SVBP	OMIM:618569
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	860	RUNX2	OMIM:156510
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8823	FGF16	OMIM:309630
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9241	NOG	OMIM:185800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64327	LMBR1	OMIM:200500
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57167	SALL4	OMIM:607323
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2137	EXTL3	ORPHA:508533
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1280	COL2A1	OMIM:271700
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1280	COL2A1	OMIM:609162
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9361	LONP1	OMIM:600373
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9361	LONP1	ORPHA:1458
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5573	PRKAR1A	ORPHA:950
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5573	PRKAR1A	OMIM:101800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5573	PRKAR1A	ORPHA:280651
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	ORPHA:950
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	ORPHA:439822
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	OMIM:614613
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	ORPHA:280651
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64374	SIL1	OMIM:248800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4921	DDR2	OMIM:271665
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54808	DYM	OMIM:607326
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54808	DYM	OMIM:223800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2131	EXT1	OMIM:133700
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2131	EXT1	ORPHA:321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2132	EXT2	OMIM:133701
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2132	EXT2	ORPHA:321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2879	GPX4	ORPHA:93317
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2879	GPX4	OMIM:250220
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	100151683	RNU4ATAC	OMIM:210710
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	100151683	RNU4ATAC	OMIM:616651
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6885	MAP3K7	OMIM:617137
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6885	MAP3K7	ORPHA:1826
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9759	HDAC4	ORPHA:1001
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9759	HDAC4	OMIM:600430
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	89970	RSPRY1	OMIM:616723
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	89970	RSPRY1	ORPHA:457395
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55733	HHAT	OMIM:600092
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55733	HHAT	ORPHA:1422
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5447	POR	ORPHA:95699
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	ORPHA:56304
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	ORPHA:93307
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	OMIM:226900
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	114803	MYSM1	ORPHA:508542
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	149775	GNAS-AS1	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8675	STX16	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:612463
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:612462
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	ORPHA:79443
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	ORPHA:79444
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:103580
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8200	GDF5	OMIM:228900
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8200	GDF5	ORPHA:968
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	117581	TWIST2	OMIM:200110
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10847	SRCAP	ORPHA:2044
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25782	RAB3GAP2	OMIM:212720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5744	PTHLH	ORPHA:93387
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5744	PTHLH	OMIM:613382
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3239	HOXD13	ORPHA:93387
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3239	HOXD13	OMIM:113300
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10225	CD96	OMIM:211750
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64175	P3H1	OMIM:610915
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6197	RPS6KA3	OMIM:303600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6197	RPS6KA3	ORPHA:192
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9469	CHST3	ORPHA:263463
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9469	CHST3	OMIM:143095
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54496	PRMT7	OMIM:617157
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64131	XYLT1	OMIM:615777
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	ORPHA:969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	OMIM:608328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	OMIM:102370
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4054	LTBP3	ORPHA:969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3759	KCNJ2	OMIM:170390
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:108720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:272460
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:150250
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	157680	VPS13B	OMIM:216550
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5139	PDE3A	OMIM:112410
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5139	PDE3A	ORPHA:1276
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3549	IHH	OMIM:607778
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3549	IHH	OMIM:112500
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	633	BGN	OMIM:300106
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5745	PTH1R	ORPHA:50945
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	29980	DONSON	OMIM:617604
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64840	PORCN	OMIM:305600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4882	NPR2	OMIM:602875
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	145173	B3GLCT	OMIM:261540
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9401	RECQL4	ORPHA:221016
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5593	PRKG2	OMIM:619636
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10283	CWC27	OMIM:250410
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10283	CWC27	ORPHA:166035
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4810	NHS	ORPHA:627
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25839	COG4	OMIM:618150
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3636	INPPL1	OMIM:258480
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9321	TRIP11	OMIM:184260
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5130	PCYT1A	ORPHA:85167
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5130	PCYT1A	OMIM:608940
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54928	BPNT2	OMIM:614078
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	51098	IFT52	OMIM:617102
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1299	COL9A3	OMIM:600969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2316	FLNA	OMIM:304120
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2316	FLNA	ORPHA:1826
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4148	MATN3	OMIM:607078
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	126792	B3GALT6	OMIM:271640
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55252	ASXL2	OMIM:617190
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3930	LBR	OMIM:215140
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5264	PHYH	ORPHA:773
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5191	PEX7	ORPHA:773
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23483	TGDS	OMIM:616145
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2260	FGFR1	OMIM:166250
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1788	DNMT3A	OMIM:618724
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1302	COL11A2	ORPHA:1427
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	22856	CHSY1	OMIM:605282
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6595	SMARCA2	OMIM:601358
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9775	EIF4A3	OMIM:268305
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54101	RIPK4	OMIM:263650
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	83452	RAB33B	OMIM:615222
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	91252	SLC39A13	OMIM:612350
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57560	IFT80	OMIM:611263
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25871	NEPRO	OMIM:618853
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	OMIM:190350
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	OMIM:190351
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	ORPHA:77258
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	90417	KNSTRN	OMIM:613328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5293	PIK3CD	OMIM:613328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25886	POC1A	OMIM:614813
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6023	RMRP	OMIM:250460
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64682	ANAPC1	ORPHA:221008
HP:0006009	Broad phalanx	9469	CHST3	OMIM:245600
HP:0006009	Broad phalanx	26229	B3GAT3	OMIM:245600
HP:0006009	Broad phalanx	2317	FLNB	OMIM:150250
HP:0006009	Broad phalanx	1836	SLC26A2	ORPHA:56304
HP:0006009	Broad phalanx	4921	DDR2	OMIM:271665
HP:0006009	Broad phalanx	22827	PUF60	ORPHA:508498
HP:0006009	Broad phalanx	4882	NPR2	OMIM:602875
HP:0006009	Broad phalanx	633	BGN	OMIM:300106
HP:0006009	Broad phalanx	83452	RAB33B	OMIM:615222
HP:0006009	Broad phalanx	5144	PDE4D	ORPHA:439822
HP:0006009	Broad phalanx	5593	PRKG2	OMIM:619636
HP:0006009	Broad phalanx	1788	DNMT3A	OMIM:618724
HP:0006009	Broad phalanx	1301	COL11A1	OMIM:154780
HP:0006009	Broad phalanx	64135	IFIH1	OMIM:182250
HP:0006009	Broad phalanx	7700	ZNF141	OMIM:615226
HP:0006009	Broad phalanx	2316	FLNA	OMIM:311300
HP:0006009	Broad phalanx	2137	EXTL3	ORPHA:508533
HP:0006009	Broad phalanx	2200	FBN1	OMIM:608328
HP:0006009	Broad phalanx	81794	ADAMTS10	OMIM:277600
HP:0006009	Broad phalanx	9949	AMMECR1	OMIM:300990
HP:0006009	Broad phalanx	3835	KIF22	OMIM:603546
HP:0006009	Broad phalanx	100151683	RNU4ATAC	ORPHA:2636
HP:0006009	Broad phalanx	126792	B3GALT6	OMIM:609465
HP:0006009	Broad phalanx	126792	B3GALT6	OMIM:271640
HP:0006009	Broad phalanx	55209	SETD5	ORPHA:404440
HP:0006009	Broad phalanx	55209	SETD5	OMIM:615761
HP:0006009	Broad phalanx	57459	GATAD2B	ORPHA:363686
HP:0006009	Broad phalanx	6595	SMARCA2	OMIM:601358
HP:0006009	Broad phalanx	6595	SMARCA2	ORPHA:3051
HP:0006009	Broad phalanx	79971	WLS	OMIM:619648
HP:0006009	Broad phalanx	388015	RTL1	ORPHA:96334
HP:0006009	Broad phalanx	8788	DLK1	ORPHA:96334
HP:0006009	Broad phalanx	55384	MEG3	ORPHA:96334
HP:0006009	Broad phalanx	25871	NEPRO	OMIM:618853
HP:0006009	Broad phalanx	5293	PIK3CD	ORPHA:221139
HP:0006009	Broad phalanx	90417	KNSTRN	ORPHA:221139
HP:0006009	Broad phalanx	1300	COL10A1	ORPHA:174
HP:0006009	Broad phalanx	55764	IFT122	OMIM:218330
HP:0006009	Broad phalanx	2778	GNAS	ORPHA:79443
HP:0006009	Broad phalanx	10664	CTCF	ORPHA:363611
HP:0006009	Broad phalanx	1387	CREBBP	OMIM:180849
HP:0006009	Broad phalanx	2033	EP300	OMIM:180849
HP:0006009	Broad phalanx	2737	GLI3	OMIM:175700
HP:0006009	Broad phalanx	2737	GLI3	ORPHA:380
HP:0006009	Broad phalanx	1947	EFNB1	ORPHA:1520
HP:0006009	Broad phalanx	64359	NXN	ORPHA:1507
HP:0006009	Broad phalanx	4920	ROR2	ORPHA:1507
HP:0006009	Broad phalanx	2626	GATA4	ORPHA:251071
HP:0006009	Broad phalanx	285362	SUMF1	ORPHA:585
HP:0006009	Broad phalanx	650	BMP2	ORPHA:261295
HP:0006009	Broad phalanx	23314	SATB2	ORPHA:251019
HP:0006009	Broad phalanx	57167	SALL4	ORPHA:959
HP:0006009	Broad phalanx	6299	SALL1	ORPHA:857
HP:0006009	Broad phalanx	51339	DACT1	ORPHA:857
HP:0006009	Broad phalanx	3764	KCNJ8	ORPHA:1517
HP:0006009	Broad phalanx	10060	ABCC9	ORPHA:1517
HP:0006009	Broad phalanx	2239	GPC4	ORPHA:2662
HP:0006009	Broad phalanx	2313	FLI1	ORPHA:2308
HP:0006009	Broad phalanx	3239	HOXD13	OMIM:113200
HP:0006009	Broad phalanx	2260	FGFR1	OMIM:123150
HP:0006009	Broad phalanx	2263	FGFR2	OMIM:123150
HP:0006009	Broad phalanx	57728	WDR19	OMIM:614378
HP:0006009	Broad phalanx	5728	PTEN	ORPHA:79076
HP:0006009	Broad phalanx	657	BMPR1A	ORPHA:79076
HP:0006009	Broad phalanx	6792	CDKL5	ORPHA:1934
HP:0006009	Broad phalanx	3736	KCNA1	ORPHA:1934
HP:0006009	Broad phalanx	9091	PIGQ	ORPHA:1934
HP:0006009	Broad phalanx	2775	GNAO1	ORPHA:1934
HP:0006009	Broad phalanx	81603	TRIM8	ORPHA:1934
HP:0006009	Broad phalanx	2902	GRIN1	ORPHA:1934
HP:0006009	Broad phalanx	79751	SLC25A22	ORPHA:1934
HP:0006009	Broad phalanx	150094	SIK1	ORPHA:1934
HP:0006009	Broad phalanx	8573	CASK	ORPHA:1934
HP:0006009	Broad phalanx	23312	DMXL2	ORPHA:1934
HP:0006009	Broad phalanx	2917	GRM7	ORPHA:1934
HP:0006009	Broad phalanx	170302	ARX	ORPHA:1934
HP:0006009	Broad phalanx	11284	PNKP	ORPHA:1934
HP:0006009	Broad phalanx	6326	SCN2A	ORPHA:1934
HP:0006009	Broad phalanx	51227	PIGP	ORPHA:1934
HP:0006009	Broad phalanx	6324	SCN1B	ORPHA:1934
HP:0006009	Broad phalanx	4761	NEUROD2	ORPHA:1934
HP:0006009	Broad phalanx	9653	HS2ST1	OMIM:619194
HP:0006009	Broad phalanx	81857	MED25	ORPHA:464738
HP:0006009	Broad phalanx	7291	TWIST1	ORPHA:794
HP:0006009	Broad phalanx	7291	TWIST1	OMIM:180750
HP:0006009	Broad phalanx	2261	FGFR3	ORPHA:794
HP:0006009	Broad phalanx	2261	FGFR3	OMIM:602849
HP:0006009	Broad phalanx	1280	COL2A1	OMIM:271700
HP:0006009	Broad phalanx	23394	ADNP	ORPHA:404448
HP:0006009	Broad phalanx	6910	TBX5	ORPHA:392
HP:0006009	Broad phalanx	6477	SIAH1	OMIM:619314
HP:0006009	Broad phalanx	10059	DNM1L	OMIM:614388
HP:0006009	Broad phalanx	6885	MAP3K7	OMIM:617137
HP:0006009	Broad phalanx	6885	MAP3K7	ORPHA:1826
HP:0006009	Broad phalanx	9241	NOG	OMIM:184460
HP:0006009	Broad phalanx	9241	NOG	ORPHA:3237
HP:0006009	Broad phalanx	10847	SRCAP	OMIM:136140
HP:0006009	Broad phalanx	3020	H3-3A	OMIM:619720
HP:0006009	Broad phalanx	29998	BICRA	OMIM:619325
HP:0006009	Broad phalanx	3021	H3-3B	OMIM:619721
HP:0006009	Broad phalanx	1855	DVL1	OMIM:616331
HP:0006009	Broad phalanx	1855	DVL1	OMIM:180700
HP:0006009	Broad phalanx	8239	USP9X	OMIM:300919
HP:0006009	Broad phalanx	3248	HPGD	ORPHA:217059
HP:0006009	Broad phalanx	176	ACAN	OMIM:612813
HP:0006009	Broad phalanx	176	ACAN	ORPHA:171866
HP:0006009	Broad phalanx	51132	RLIM	OMIM:300978
HP:0006009	Broad phalanx	92579	G6PC3	OMIM:612541
HP:0006009	Broad phalanx	64131	XYLT1	OMIM:615777
HP:0006009	Broad phalanx	64131	XYLT1	ORPHA:370930
HP:0006009	Broad phalanx	29920	PYCR2	ORPHA:481152
HP:0006009	Broad phalanx	64093	SMOC1	ORPHA:1106
HP:0006009	Broad phalanx	8726	EED	OMIM:617561
HP:0006009	Broad phalanx	8726	EED	ORPHA:3447
HP:0006009	Broad phalanx	5718	PSMD12	ORPHA:529962
HP:0006009	Broad phalanx	2186	BPTF	ORPHA:529962
HP:0006009	Broad phalanx	4212	MEIS2	OMIM:600987
HP:0006009	Broad phalanx	1954	MEGF8	OMIM:614976
HP:0006009	Broad phalanx	1954	MEGF8	ORPHA:65759
HP:0006009	Broad phalanx	51715	RAB23	ORPHA:65759
HP:0006009	Broad phalanx	8200	GDF5	ORPHA:3237
HP:0006009	Broad phalanx	2254	FGF9	ORPHA:3237
HP:0006009	Broad phalanx	2254	FGF9	OMIM:612961
HP:0006009	Broad phalanx	3981	LIG4	ORPHA:235
HP:0006009	Broad phalanx	54888	NSUN2	ORPHA:235
HP:0006009	Broad phalanx	6608	SMO	OMIM:601707
HP:0006009	Broad phalanx	6608	SMO	ORPHA:1553
HP:0006009	Broad phalanx	23126	POGZ	OMIM:616364
HP:0006009	Broad phalanx	51633	OTUD6B	OMIM:617452
HP:0006009	Broad phalanx	51633	OTUD6B	ORPHA:505237
HP:0006009	Broad phalanx	79753	SNIP1	OMIM:614501
HP:0006009	Broad phalanx	9968	MED12	OMIM:309520
HP:0006009	Broad phalanx	9968	MED12	OMIM:305450
HP:0006009	Broad phalanx	80036	TRPM3	OMIM:620224
HP:0006009	Broad phalanx	79759	ZNF668	OMIM:620194
HP:0006009	Broad phalanx	10236	HNRNPR	OMIM:620073
HP:0006009	Broad phalanx	284252	KCTD1	OMIM:181270
HP:0006009	Broad phalanx	1857	DVL3	OMIM:616894
HP:0006009	Broad phalanx	8481	OFD1	OMIM:300209
HP:0006009	Broad phalanx	56098	PCDHGC4	OMIM:619880
HP:0006009	Broad phalanx	3756	KCNH1	ORPHA:420561
HP:0006009	Broad phalanx	3756	KCNH1	OMIM:611816
HP:0006009	Broad phalanx	2719	GPC3	ORPHA:373
HP:0006009	Broad phalanx	2719	GPC3	OMIM:312870
HP:0006009	Broad phalanx	4123	MAN2C1	OMIM:619775
HP:0006009	Broad phalanx	4488	MSX2	ORPHA:60015
HP:0006009	Broad phalanx	60529	ALX4	ORPHA:60015
HP:0006009	Broad phalanx	79989	IFT56	OMIM:619534
HP:0006009	Broad phalanx	2146	EZH2	OMIM:277590
HP:0006009	Broad phalanx	2146	EZH2	ORPHA:3447
HP:0006009	Broad phalanx	9939	RBM8A	ORPHA:3320
HP:0006009	Broad phalanx	9939	RBM8A	OMIM:274000
HP:0006009	Broad phalanx	7474	WNT5A	OMIM:180700
HP:0006009	Broad phalanx	64324	NSD1	ORPHA:3447
HP:0006009	Broad phalanx	23512	SUZ12	ORPHA:3447
HP:0006009	Broad phalanx	23404	EXOSC2	OMIM:617763
HP:0006009	Broad phalanx	5587	PRKD1	OMIM:617364
HP:0006009	Broad phalanx	2702	GJA5	OMIM:612474
HP:0006009	Broad phalanx	2703	GJA8	OMIM:612474
HP:0006009	Broad phalanx	3636	INPPL1	ORPHA:2746
HP:0006009	Broad phalanx	55690	PACS1	ORPHA:329224
HP:0006009	Broad phalanx	22907	DHX30	OMIM:617804
HP:0006009	Broad phalanx	865	CBFB	OMIM:620099
HP:0100807	Long fingers	64132	XYLT2	OMIM:605822
HP:0100807	Long fingers	4088	SMAD3	ORPHA:284984
HP:0100807	Long fingers	4088	SMAD3	OMIM:613795
HP:0100807	Long fingers	4088	SMAD3	ORPHA:91387
HP:0100807	Long fingers	875	CBS	ORPHA:394
HP:0100807	Long fingers	875	CBS	OMIM:236200
HP:0100807	Long fingers	25970	SH2B1	ORPHA:261222
HP:0100807	Long fingers	199857	ALG14	OMIM:619036
HP:0100807	Long fingers	8925	HERC1	OMIM:617011
HP:0100807	Long fingers	8925	HERC1	ORPHA:457359
HP:0100807	Long fingers	1075	CTSC	OMIM:245010
HP:0100807	Long fingers	1075	CTSC	ORPHA:678
HP:0100807	Long fingers	5351	PLOD1	OMIM:225400
HP:0100807	Long fingers	8076	MFAP5	OMIM:616166
HP:0100807	Long fingers	8076	MFAP5	ORPHA:91387
HP:0100807	Long fingers	57122	NUP107	OMIM:618348
HP:0100807	Long fingers	57122	NUP107	OMIM:616730
HP:0100807	Long fingers	57122	NUP107	ORPHA:243
HP:0100807	Long fingers	2200	FBN1	ORPHA:284979
HP:0100807	Long fingers	2200	FBN1	OMIM:154700
HP:0100807	Long fingers	2200	FBN1	OMIM:604308
HP:0100807	Long fingers	2200	FBN1	OMIM:616914
HP:0100807	Long fingers	2200	FBN1	ORPHA:2462
HP:0100807	Long fingers	2200	FBN1	ORPHA:91387
HP:0100807	Long fingers	5447	POR	ORPHA:95699
HP:0100807	Long fingers	5447	POR	OMIM:207410
HP:0100807	Long fingers	5447	POR	OMIM:201750
HP:0100807	Long fingers	1301	COL11A1	OMIM:604841
HP:0100807	Long fingers	91179	SCARF2	OMIM:600920
HP:0100807	Long fingers	613	BCR	ORPHA:261330
HP:0100807	Long fingers	1399	CRKL	ORPHA:261330
HP:0100807	Long fingers	5594	MAPK1	ORPHA:261330
HP:0100807	Long fingers	3021	H3-3B	OMIM:619721
HP:0100807	Long fingers	80816	ASXL3	OMIM:615485
HP:0100807	Long fingers	80816	ASXL3	ORPHA:352577
HP:0100807	Long fingers	63895	PIEZO2	OMIM:617146
HP:0100807	Long fingers	63895	PIEZO2	OMIM:108145
HP:0100807	Long fingers	63895	PIEZO2	ORPHA:1154
HP:0100807	Long fingers	63895	PIEZO2	OMIM:248700
HP:0100807	Long fingers	63895	PIEZO2	ORPHA:2461
HP:0100807	Long fingers	23314	SATB2	ORPHA:251019
HP:0100807	Long fingers	23314	SATB2	OMIM:612313
HP:0100807	Long fingers	2263	FGFR2	OMIM:207410
HP:0100807	Long fingers	126792	B3GALT6	ORPHA:2725
HP:0100807	Long fingers	126792	B3GALT6	ORPHA:536467
HP:0100807	Long fingers	72	ACTG2	ORPHA:2604
HP:0100807	Long fingers	2261	FGFR3	OMIM:610474
HP:0100807	Long fingers	2201	FBN2	OMIM:121050
HP:0100807	Long fingers	2201	FBN2	ORPHA:115
HP:0100807	Long fingers	30008	EFEMP2	OMIM:614437
HP:0100807	Long fingers	4882	NPR2	OMIM:615923
HP:0100807	Long fingers	10084	PQBP1	ORPHA:93946
HP:0100807	Long fingers	51114	ZDHHC9	ORPHA:776
HP:0100807	Long fingers	51114	ZDHHC9	OMIM:300799
HP:0100807	Long fingers	65109	UPF3B	ORPHA:776
HP:0100807	Long fingers	9968	MED12	ORPHA:776
HP:0100807	Long fingers	9968	MED12	OMIM:309520
HP:0100807	Long fingers	79693	YRDC	OMIM:619609
HP:0100807	Long fingers	1146	CHRNG	OMIM:265000
HP:0100807	Long fingers	2316	FLNA	OMIM:305620
HP:0100807	Long fingers	284058	KANSL1	ORPHA:363958
HP:0100807	Long fingers	284058	KANSL1	ORPHA:363965
HP:0100807	Long fingers	1272	CNTN1	OMIM:612540
HP:0100807	Long fingers	29920	PYCR2	ORPHA:481152
HP:0100807	Long fingers	29920	PYCR2	OMIM:616420
HP:0100807	Long fingers	29940	DSE	OMIM:615539
HP:0100807	Long fingers	1312	COMT	ORPHA:567
HP:0100807	Long fingers	221037	JMJD1C	ORPHA:567
HP:0100807	Long fingers	2812	GP1BB	ORPHA:567
HP:0100807	Long fingers	6239	RREB1	ORPHA:567
HP:0100807	Long fingers	6899	TBX1	ORPHA:567
HP:0100807	Long fingers	7290	HIRA	ORPHA:567
HP:0100807	Long fingers	9632	SEC24C	ORPHA:567
HP:0100807	Long fingers	7353	UFD1	ORPHA:567
HP:0100807	Long fingers	421	ARVCF	ORPHA:567
HP:0100807	Long fingers	444	ASPH	OMIM:601552
HP:0100807	Long fingers	9839	ZEB2	ORPHA:261552
HP:0100807	Long fingers	9839	ZEB2	ORPHA:261537
HP:0100807	Long fingers	10815	CPLX1	ORPHA:280
HP:0100807	Long fingers	54872	PIGG	ORPHA:280
HP:0100807	Long fingers	7469	NELFA	ORPHA:280
HP:0100807	Long fingers	1487	CTBP1	ORPHA:280
HP:0100807	Long fingers	3954	LETM1	ORPHA:280
HP:0100807	Long fingers	7468	NSD2	ORPHA:280
HP:0100807	Long fingers	633	BGN	OMIM:300989
HP:0100807	Long fingers	79576	NKAP	OMIM:301039
HP:0100807	Long fingers	3188	HNRNPH2	OMIM:300986
HP:0100807	Long fingers	25	ABL1	OMIM:617602
HP:0100807	Long fingers	23152	CIC	OMIM:617600
HP:0100807	Long fingers	649	BMP1	OMIM:614856
HP:0100807	Long fingers	89910	UBE3B	ORPHA:2707
HP:0100807	Long fingers	25942	SIN3A	OMIM:613406
HP:0100807	Long fingers	55644	OSGEP	OMIM:617729
HP:0100807	Long fingers	165	AEBP1	ORPHA:536532
HP:0100807	Long fingers	11285	B4GALT7	ORPHA:75496
HP:0100807	Long fingers	11285	B4GALT7	OMIM:130070
HP:0100807	Long fingers	1798	DPAGT1	ORPHA:86309
HP:0100807	Long fingers	6611	SMS	ORPHA:3063
HP:0100807	Long fingers	157680	VPS13B	ORPHA:193
HP:0100807	Long fingers	10526	IPO8	OMIM:619472
HP:0100807	Long fingers	10526	IPO8	ORPHA:60030
HP:0100807	Long fingers	8270	LAGE3	OMIM:301006
HP:0100807	Long fingers	490	ATP2B1	OMIM:619910
HP:0100807	Long fingers	259232	NALCN	ORPHA:371364
HP:0100807	Long fingers	285175	UNC80	ORPHA:371364
HP:0100807	Long fingers	81031	SLC2A10	ORPHA:3342
HP:0100807	Long fingers	81031	SLC2A10	OMIM:208050
HP:0100807	Long fingers	4534	MTM1	OMIM:310400
HP:0100807	Long fingers	1280	COL2A1	OMIM:108300
HP:0100807	Long fingers	5184	PEPD	ORPHA:742
HP:0100807	Long fingers	113189	CHST14	OMIM:601776
HP:0100807	Long fingers	715	C1R	OMIM:130080
HP:0100807	Long fingers	51633	OTUD6B	ORPHA:505237
HP:0100807	Long fingers	60676	PAPPA2	OMIM:619489
HP:0100807	Long fingers	1742	DLG4	OMIM:618793
HP:0100807	Long fingers	6605	SMARCE1	OMIM:616938
HP:0100807	Long fingers	11107	PRDM5	ORPHA:90354
HP:0100807	Long fingers	84627	ZNF469	ORPHA:90354
HP:0100807	Long fingers	139285	AMER1	OMIM:300373
HP:0100807	Long fingers	3187	HNRNPH1	OMIM:620083
HP:0100807	Long fingers	5727	PTCH1	ORPHA:377
HP:0100807	Long fingers	8643	PTCH2	ORPHA:377
HP:0100807	Long fingers	51684	SUFU	ORPHA:377
HP:0100807	Long fingers	6497	SKI	OMIM:182212
HP:0100807	Long fingers	6497	SKI	ORPHA:2462
HP:0100807	Long fingers	4677	NARS1	OMIM:619092
HP:0100807	Long fingers	6651	SON	ORPHA:500150
HP:0100807	Long fingers	2193	FARSA	OMIM:619013
HP:0100807	Long fingers	10273	STUB1	ORPHA:412057
HP:0100807	Long fingers	4087	SMAD2	OMIM:619656
HP:0100807	Long fingers	4087	SMAD2	ORPHA:91387
HP:0100807	Long fingers	7048	TGFBR2	OMIM:610168
HP:0100807	Long fingers	7048	TGFBR2	ORPHA:60030
HP:0100807	Long fingers	7048	TGFBR2	ORPHA:91387
HP:0100807	Long fingers	10516	FBLN5	OMIM:219100
HP:0100807	Long fingers	23133	PHF8	OMIM:300263
HP:0100807	Long fingers	29893	PSMC3IP	ORPHA:243
HP:0100807	Long fingers	171568	POLR3H	ORPHA:243
HP:0100807	Long fingers	2516	NR5A1	ORPHA:243
HP:0100807	Long fingers	125150	ZSWIM7	ORPHA:243
HP:0100807	Long fingers	9210	BMP15	ORPHA:243
HP:0100807	Long fingers	23514	SPIDR	ORPHA:243
HP:0100807	Long fingers	2492	FSHR	ORPHA:243
HP:0100807	Long fingers	56945	MRPS22	ORPHA:243
HP:0100807	Long fingers	646	BNC1	ORPHA:243
HP:0100807	Long fingers	55553	SOX6	OMIM:618971
HP:0100807	Long fingers	4883	NPR3	OMIM:619543
HP:0100807	Long fingers	7043	TGFB3	OMIM:615582
HP:0100807	Long fingers	7043	TGFB3	ORPHA:91387
HP:0100807	Long fingers	7046	TGFBR1	ORPHA:60030
HP:0100807	Long fingers	7046	TGFBR1	OMIM:609192
HP:0100807	Long fingers	7046	TGFBR1	ORPHA:91387
HP:0100807	Long fingers	56603	CYP26B1	OMIM:614416
HP:0100807	Long fingers	7042	TGFB2	OMIM:614816
HP:0100807	Long fingers	7042	TGFB2	ORPHA:91387
HP:0100807	Long fingers	4629	MYH11	ORPHA:91387
HP:0100807	Long fingers	4015	LOX	ORPHA:91387
HP:0100807	Long fingers	4089	SMAD4	ORPHA:91387
HP:0100807	Long fingers	59	ACTA2	ORPHA:91387
HP:0100807	Long fingers	5592	PRKG1	ORPHA:91387
HP:0100807	Long fingers	2301	FOXE3	ORPHA:91387
HP:0100807	Long fingers	4144	MAT2A	ORPHA:91387
HP:0100807	Long fingers	23493	HEY2	ORPHA:91387
HP:0100807	Long fingers	4638	MYLK	ORPHA:91387
HP:0100807	Long fingers	2006	ELN	ORPHA:91387
HP:0100807	Long fingers	23019	CNOT1	OMIM:619033
HP:0100807	Long fingers	26128	KIFBP	OMIM:609460
HP:0100807	Long fingers	2972	BRF1	OMIM:616202
HP:0100807	Long fingers	2972	BRF1	ORPHA:444072
HP:0100807	Long fingers	56916	SMARCAD1	OMIM:129200
HP:0100807	Long fingers	56916	SMARCAD1	OMIM:181600
HP:0100807	Long fingers	374654	KIF7	OMIM:200990
HP:0100807	Long fingers	374654	KIF7	OMIM:607131
HP:0100807	Long fingers	9578	CDC42BPB	OMIM:619841
HP:0100807	Long fingers	3020	H3-3A	OMIM:619720
HP:0100807	Long fingers	170302	ARX	OMIM:300004
HP:0100807	Long fingers	10300	KATNB1	OMIM:616212
HP:0100807	Long fingers	55904	KMT2E	OMIM:618512
HP:0100807	Long fingers	10978	CLP1	OMIM:615803
HP:0100807	Long fingers	55650	PIGV	OMIM:239300
HP:0100807	Long fingers	6335	SCN9A	ORPHA:970
HP:0100807	Long fingers	65125	WNK1	ORPHA:970
HP:0100807	Long fingers	54463	RETREG1	ORPHA:970
HP:0100807	Long fingers	547	KIF1A	ORPHA:970
HP:0100807	Long fingers	547	KIF1A	ORPHA:2836
HP:0100807	Long fingers	6197	RPS6KA3	OMIM:303600
HP:0100807	Long fingers	6197	RPS6KA3	ORPHA:276630
HP:0100807	Long fingers	6197	RPS6KA3	ORPHA:192
HP:0100807	Long fingers	80204	FBXO11	OMIM:618089
HP:0100807	Long fingers	1889	ECE1	OMIM:613870
HP:0100807	Long fingers	9326	ZNHIT3	ORPHA:2836
HP:0100807	Long fingers	9326	ZNHIT3	OMIM:260565
HP:0100807	Long fingers	2770	GNAI1	OMIM:619854
HP:0100807	Long fingers	83550	GPR101	ORPHA:963
HP:0100807	Long fingers	9049	AIP	ORPHA:963
HP:0100807	Long fingers	2626	GATA4	ORPHA:251071
HP:0100807	Long fingers	84823	LMNB2	OMIM:619180
HP:0100807	Long fingers	9896	FIG4	ORPHA:3472
HP:0100807	Long fingers	9896	FIG4	OMIM:216340
HP:0100807	Long fingers	55697	VAC14	ORPHA:3472
HP:0100807	Long fingers	1656	DDX6	OMIM:618653
HP:0100807	Long fingers	4297	KMT2A	ORPHA:319182
HP:0100807	Long fingers	4297	KMT2A	OMIM:605130
HP:0100807	Long fingers	2783	GNB2	OMIM:619503
HP:0100807	Long fingers	6792	CDKL5	OMIM:300672
HP:0100807	Long fingers	7025	NR2F1	ORPHA:401777
HP:0100807	Long fingers	7025	NR2F1	OMIM:615722
HP:0100807	Long fingers	253738	EBF3	OMIM:617330
HP:0100807	Long fingers	55699	IARS2	OMIM:616007
HP:0100807	Long fingers	8239	USP9X	ORPHA:480880
HP:0100807	Long fingers	8239	USP9X	OMIM:300968
HP:0100807	Long fingers	79753	SNIP1	OMIM:614501
HP:0100807	Long fingers	6134	RPL10	ORPHA:459070
HP:0100807	Long fingers	6134	RPL10	OMIM:300998
HP:0100807	Long fingers	6134	RPL10	ORPHA:435938
HP:0100807	Long fingers	1859	DYRK1A	ORPHA:464311
HP:0100807	Long fingers	1859	DYRK1A	ORPHA:268261
HP:0100807	Long fingers	55027	HEATR3	OMIM:620072
HP:0100807	Long fingers	1303	COL12A1	ORPHA:536516
HP:0100807	Long fingers	51611	DPH5	OMIM:620070
HP:0100807	Long fingers	79813	EHMT1	ORPHA:261652
HP:0100807	Long fingers	58508	KMT2C	ORPHA:261652
HP:0100807	Long fingers	4094	MAF	ORPHA:1272
HP:0100807	Long fingers	4094	MAF	OMIM:601088
HP:0100807	Long fingers	7750	ZMYM2	OMIM:619522
HP:0100807	Long fingers	4849	CNOT3	OMIM:618672
HP:0100807	Long fingers	6942	TCF20	OMIM:618430
HP:0100807	Long fingers	81887	LAS1L	ORPHA:3459
HP:0100807	Long fingers	81887	LAS1L	OMIM:309585
HP:0100807	Long fingers	55869	HDAC8	ORPHA:3459
HP:0100807	Long fingers	7140	TNNT3	OMIM:618435
HP:0100807	Long fingers	6925	TCF4	OMIM:610954
HP:0100807	Long fingers	6925	TCF4	ORPHA:2896
HP:0100807	Long fingers	7030	TFE3	OMIM:301066
HP:0100807	Long fingers	546	ATRX	OMIM:309580
HP:0100807	Long fingers	546	ATRX	OMIM:301040
HP:0100807	Long fingers	57479	PRR12	OMIM:619539
HP:0100807	Long fingers	374969	SVBP	OMIM:618569
HP:0100807	Long fingers	84295	PHF6	ORPHA:127
HP:0100807	Long fingers	84295	PHF6	OMIM:301900
HP:0100807	Long fingers	91252	SLC39A13	ORPHA:157965
HP:0100807	Long fingers	91252	SLC39A13	OMIM:612350
HP:0100807	Long fingers	1749	DLX5	OMIM:220600
HP:0100807	Long fingers	171023	ASXL1	OMIM:605039
HP:0100807	Long fingers	55023	PHIP	ORPHA:589905
HP:0100807	Long fingers	55023	PHIP	OMIM:617991
HP:0100807	Long fingers	22907	DHX30	OMIM:617804
HP:0100807	Long fingers	9230	RAB11B	OMIM:617807
HP:0100807	Long fingers	5277	PIGA	OMIM:301072
HP:0100807	Long fingers	389827	MYMK	OMIM:254940
HP:0100807	Long fingers	10075	HUWE1	OMIM:309590
HP:0100807	Long fingers	9488	PIGB	OMIM:618580
HP:0100807	Long fingers	8243	SMC1A	OMIM:301044
HP:0100807	Long fingers	23013	SPEN	OMIM:619312
HP:0100807	Long fingers	56896	DPYSL5	OMIM:619435
HP:0100807	Long fingers	9698	PUM1	OMIM:617931
HP:0100807	Long fingers	23394	ADNP	OMIM:615873
HP:0100807	Long fingers	23028	KDM1A	OMIM:616728
HP:0100807	Long fingers	23028	KDM1A	ORPHA:477993
HP:0100807	Long fingers	5575	PRKAR1B	OMIM:619680
HP:0100807	Long fingers	6492	SIM1	ORPHA:171829
HP:0100807	Long fingers	2782	GNB1	OMIM:616973
HP:0100807	Long fingers	4953	ODC1	ORPHA:544488
HP:0100807	Long fingers	998	CDC42	OMIM:616737
HP:0100807	Long fingers	998	CDC42	ORPHA:487796
HP:0100807	Long fingers	3097	HIVEP2	OMIM:616977
HP:0100807	Long fingers	4131	MAP1B	OMIM:618918
HP:0100807	Long fingers	56915	EXOSC5	OMIM:619576
HP:0100807	Long fingers	10588	MTHFS	OMIM:618367
HP:0100807	Long fingers	1108	CHD4	OMIM:617159
HP:0100807	Long fingers	91137	SLC25A46	OMIM:616505
HP:0100807	Long fingers	8604	SLC25A12	OMIM:612949
HP:0100807	Long fingers	83696	TRAPPC9	ORPHA:352530
HP:0100807	Long fingers	860	RUNX2	ORPHA:1452
HP:0100807	Long fingers	54551	MAGEL2	OMIM:615547
HP:0100807	Long fingers	2697	GJA1	ORPHA:317
HP:0100807	Long fingers	2707	GJB3	ORPHA:317
HP:0100807	Long fingers	2531	KDSR	ORPHA:317
HP:0100807	Long fingers	127534	GJB4	ORPHA:317
HP:0100807	Long fingers	9244	CRLF1	OMIM:272430
HP:0100807	Long fingers	8812	CCNK	OMIM:618147
HP:0100807	Long fingers	112858	TP53RK	OMIM:617730
HP:0100807	Long fingers	7204	TRIO	OMIM:618825
HP:0100807	Long fingers	7204	TRIO	OMIM:617061
HP:0100807	Long fingers	7204	TRIO	ORPHA:476126
HP:0100807	Long fingers	9894	TELO2	ORPHA:488642
HP:0100807	Long fingers	80036	TRPM3	OMIM:620224
HP:0100807	Long fingers	8936	WASF1	OMIM:618707
HP:0100807	Long fingers	8405	SPOP	OMIM:618829
HP:0100807	Long fingers	23630	KCNE5	ORPHA:86818
HP:0100807	Long fingers	2182	ACSL4	ORPHA:86818
HP:0100807	Long fingers	9949	AMMECR1	ORPHA:86818
HP:0100807	Long fingers	11198	SUPT16H	OMIM:619480
HP:0100807	Long fingers	23556	PIGN	ORPHA:280633
HP:0100807	Long fingers	23067	SETD1B	OMIM:619000
HP:0100807	Long fingers	23233	EXOC6B	OMIM:618395
HP:0100807	Long fingers	5075	PAX1	OMIM:615560
HP:0100807	Long fingers	55704	CCDC88A	OMIM:617507
HP:0100807	Long fingers	8242	KDM5C	ORPHA:85279
HP:0100807	Long fingers	1315	COPB1	OMIM:619255
HP:0100807	Long fingers	51317	PHF21A	OMIM:618725
HP:0100807	Long fingers	1968	EIF2S3	ORPHA:85282
HP:0100807	Long fingers	5557	PRIM1	OMIM:620005
HP:0100807	Long fingers	3636	INPPL1	ORPHA:2746
HP:0100807	Long fingers	4654	MYOD1	OMIM:618975
HP:0100807	Long fingers	11342	RNF13	ORPHA:544503
HP:0100807	Long fingers	10682	EBP	ORPHA:401973
HP:0100807	Long fingers	10682	EBP	OMIM:300960
HP:0100807	Long fingers	274	BIN1	ORPHA:169186
HP:0100807	Long fingers	10290	SPEG	ORPHA:169186
HP:0100807	Long fingers	6261	RYR1	ORPHA:169186
HP:0100807	Long fingers	7273	TTN	ORPHA:169186
HP:0100807	Long fingers	57459	GATAD2B	OMIM:615074
HP:0100807	Long fingers	57459	GATAD2B	ORPHA:363686
HP:0100807	Long fingers	1281	COL3A1	OMIM:618343
HP:0100807	Long fingers	8367	H4C5	OMIM:619950
HP:0100807	Long fingers	1182	CLCN3	OMIM:619512
HP:0100807	Long fingers	9853	RUSC2	OMIM:617773
HP:0100807	Long fingers	6660	SOX5	OMIM:616803
HP:0100807	Long fingers	51520	LARS1	OMIM:615438
HP:0100807	Long fingers	54499	TMCO1	OMIM:213980
HP:0100807	Long fingers	11128	POLR3A	OMIM:264090
HP:0100807	Long fingers	11128	POLR3A	ORPHA:3455
HP:0100807	Long fingers	50814	NSDHL	ORPHA:251383
HP:0100807	Long fingers	4784	NFIX	ORPHA:447980
HP:0100807	Long fingers	4784	NFIX	OMIM:614753
HP:0100807	Long fingers	116931	MED12L	OMIM:618872
HP:0100807	Long fingers	203068	TUBB	OMIM:156610
HP:0100807	Long fingers	1278	COL1A2	ORPHA:230851
HP:0100807	Long fingers	2624	GATA2	OMIM:614038
HP:0100807	Long fingers	9373	PLAA	ORPHA:521426
HP:0100807	Long fingers	9373	PLAA	OMIM:617527
HP:0100807	Long fingers	9772	TMEM94	OMIM:618316
HP:0100807	Long fingers	7291	TWIST1	OMIM:617746
HP:0100807	Long fingers	10982	MAPRE2	OMIM:616734
HP:0100807	Long fingers	79971	WLS	OMIM:619648
HP:0100807	Long fingers	91949	COG7	ORPHA:79333
HP:0100807	Long fingers	2556	GABRA3	OMIM:301091
HP:0100807	Long fingers	1376	CPT2	OMIM:608836
HP:0100807	Long fingers	5373	PMM2	ORPHA:79318
HP:0100807	Long fingers	51651	PTRH2	OMIM:616263
HP:0100807	Long fingers	51651	PTRH2	ORPHA:456312
HP:0100807	Long fingers	63035	BCORL1	OMIM:301029
HP:0100807	Long fingers	8260	NAA10	OMIM:300855
HP:0100807	Long fingers	10265	IRX5	OMIM:611174
HP:0100807	Long fingers	7528	YY1	OMIM:617557
HP:0100807	Long fingers	6885	MAP3K7	ORPHA:1826
HP:0100807	Long fingers	79087	ALG12	ORPHA:79324
HP:0100807	Long fingers	1795	DOCK3	OMIM:618292
HP:0100807	Long fingers	22827	PUF60	ORPHA:508488
HP:0100807	Long fingers	10195	ALG3	OMIM:601110
HP:0100807	Long fingers	7703	PCGF2	OMIM:618371
HP:0100807	Long fingers	6595	SMARCA2	OMIM:601358
HP:0100807	Long fingers	9496	TBX4	ORPHA:261279
HP:0100807	Long fingers	8726	EED	OMIM:617561
HP:0100807	Long fingers	57178	ZMIZ1	OMIM:618659
HP:0100807	Long fingers	92949	ADAMTSL1	ORPHA:521445
HP:0100807	Long fingers	5696	PSMB8	OMIM:256040
HP:0100807	Long fingers	10716	TBR1	ORPHA:1617
HP:0100807	Long fingers	9990	SLC12A6	OMIM:218000
HP:0100807	Long fingers	26227	PHGDH	OMIM:256520
HP:0006011	Cuboidal metacarpal	8200	GDF5	ORPHA:968
HP:0006011	Cuboidal metacarpal	8200	GDF5	OMIM:201250
HP:0006012	Widened metacarpal shaft	4313	MMP2	OMIM:259600
HP:0006014	Abnormally shaped carpal bones	1311	COMP	ORPHA:750
HP:0006014	Abnormally shaped carpal bones	1311	COMP	OMIM:177170
HP:0006014	Abnormally shaped carpal bones	79158	GNPTAB	OMIM:252600
HP:0006014	Abnormally shaped carpal bones	9451	EIF2AK3	OMIM:226980
HP:0006014	Abnormally shaped carpal bones	54808	DYM	ORPHA:239
HP:0006014	Abnormally shaped carpal bones	3417	IDH1	ORPHA:99646
HP:0006014	Abnormally shaped carpal bones	3835	KIF22	ORPHA:93360
HP:0006014	Abnormally shaped carpal bones	8200	GDF5	ORPHA:968
HP:0006014	Abnormally shaped carpal bones	8200	GDF5	OMIM:201250
HP:0009381	Short finger	1280	COL2A1	OMIM:271700
HP:0009381	Short finger	2778	GNAS	ORPHA:79445
HP:0009381	Short finger	658	BMPR1B	OMIM:112600
HP:0009381	Short finger	658	BMPR1B	OMIM:616849
HP:0009381	Short finger	658	BMPR1B	ORPHA:93396
HP:0009381	Short finger	8200	GDF5	OMIM:112600
HP:0009381	Short finger	8200	GDF5	OMIM:615072
HP:0009381	Short finger	8200	GDF5	ORPHA:63442
HP:0009381	Short finger	8200	GDF5	ORPHA:93396
HP:0009381	Short finger	8200	GDF5	OMIM:113100
HP:0009381	Short finger	650	BMP2	OMIM:112600
HP:0009381	Short finger	650	BMP2	ORPHA:93396
HP:0009381	Short finger	4920	ROR2	OMIM:268310
HP:0009381	Short finger	4613	MYCN	ORPHA:391641
HP:0009381	Short finger	7021	TFAP2B	ORPHA:46627
HP:0009381	Short finger	3481	IGF2	OMIM:180860
HP:0009381	Short finger	51199	NIN	ORPHA:319675
HP:0009381	Short finger	51199	NIN	OMIM:614851
HP:0009381	Short finger	7474	WNT5A	OMIM:180700
HP:0009381	Short finger	1855	DVL1	OMIM:180700
HP:0009381	Short finger	9241	NOG	OMIM:186500
HP:0009381	Short finger	22827	PUF60	ORPHA:508488
HP:0009381	Short finger	3239	HOXD13	OMIM:186000
HP:0009381	Short finger	3239	HOXD13	ORPHA:93409
HP:0009381	Short finger	10847	SRCAP	OMIM:136140
HP:0009381	Short finger	860	RUNX2	OMIM:119600
HP:0009381	Short finger	860	RUNX2	OMIM:156510
HP:0009381	Short finger	2623	GATA1	OMIM:190685
HP:0009381	Short finger	2783	GNB2	OMIM:619503
HP:0009381	Short finger	2697	GJA1	OMIM:164200
HP:0009381	Short finger	5932	RBBP8	OMIM:251255
HP:0009381	Short finger	10236	HNRNPR	OMIM:620073
HP:0009381	Short finger	55777	MBD5	OMIM:156200
HP:0009381	Short finger	5745	PTH1R	OMIM:600002
HP:0009381	Short finger	5422	POLA1	OMIM:301030
HP:0009381	Short finger	652	BMP4	OMIM:607932
HP:0009381	Short finger	9742	IFT140	OMIM:266920
HP:0009381	Short finger	5144	PDE4D	ORPHA:439822
HP:0009381	Short finger	8085	KMT2D	ORPHA:2322
HP:0009381	Short finger	7403	KDM6A	ORPHA:2322
HP:0009381	Short finger	25871	NEPRO	OMIM:618853
HP:0009381	Short finger	51053	GMNN	OMIM:616835
HP:0009381	Short finger	22995	CEP152	OMIM:613823
HP:0009381	Short finger	407975	MIR17HG	ORPHA:391646
HP:0009381	Short finger	4297	KMT2A	OMIM:605130
HP:0009381	Short finger	2260	FGFR1	OMIM:101600
HP:0009381	Short finger	2263	FGFR2	OMIM:101600
HP:0009381	Short finger	84295	PHF6	OMIM:301900
HP:0009381	Short finger	9451	EIF2AK3	OMIM:226980
HP:0009381	Short finger	84992	PIGY	ORPHA:247262
HP:0009381	Short finger	84992	PIGY	OMIM:616809
HP:0009381	Short finger	84720	PIGO	ORPHA:247262
HP:0009381	Short finger	84720	PIGO	OMIM:614749
HP:0009381	Short finger	93210	PGAP3	ORPHA:247262
HP:0009381	Short finger	93210	PGAP3	OMIM:615716
HP:0009381	Short finger	284098	PIGW	ORPHA:247262
HP:0009381	Short finger	27315	PGAP2	ORPHA:247262
HP:0009381	Short finger	27315	PGAP2	OMIM:614207
HP:0009381	Short finger	9487	PIGL	ORPHA:247262
HP:0009381	Short finger	2972	BRF1	OMIM:616202
HP:0009381	Short finger	29929	ALG6	ORPHA:79320
HP:0009381	Short finger	5447	POR	ORPHA:95699
HP:0009381	Short finger	56992	KIF15	ORPHA:261323
HP:0009381	Short finger	2245	FGD1	OMIM:305400
HP:0009381	Short finger	23162	MAPK8IP3	OMIM:618443
HP:0009381	Short finger	5648	MASP1	OMIM:257920
HP:0009381	Short finger	6597	SMARCA4	ORPHA:1465
HP:0009381	Short finger	6597	SMARCA4	OMIM:614609
HP:0009381	Short finger	6598	SMARCB1	ORPHA:1465
HP:0009381	Short finger	6659	SOX4	ORPHA:1465
HP:0009381	Short finger	5977	DPF2	ORPHA:1465
HP:0009381	Short finger	6601	SMARCC2	ORPHA:1465
HP:0009381	Short finger	6602	SMARCD1	ORPHA:1465
HP:0009381	Short finger	57492	ARID1B	ORPHA:1465
HP:0009381	Short finger	196528	ARID2	ORPHA:1465
HP:0009381	Short finger	5879	RAC1	ORPHA:500159
HP:0009381	Short finger	91461	PKDCC	OMIM:618821
HP:0009381	Short finger	9820	CUL7	OMIM:273750
HP:0009381	Short finger	23363	OBSL1	OMIM:612921
HP:0009381	Short finger	4848	CNOT2	OMIM:618608
HP:0009381	Short finger	5286	PIK3C2A	ORPHA:557003
HP:0009381	Short finger	1327	COX4I1	OMIM:619060
HP:0009381	Short finger	4212	MEIS2	OMIM:600987
HP:0009381	Short finger	9775	EIF4A3	OMIM:268305
HP:0009381	Short finger	1028	CDKN1C	ORPHA:397590
HP:0009381	Short finger	5324	PLAG1	ORPHA:397590
HP:0009381	Short finger	8091	HMGA2	ORPHA:397590
HP:0009381	Short finger	2122	MECOM	OMIM:616738
HP:0009381	Short finger	242	ALOX12B	OMIM:242100
HP:0009381	Short finger	59344	ALOXE3	OMIM:242100
HP:0009381	Short finger	8820	HESX1	OMIM:182230
HP:0009381	Short finger	8820	HESX1	ORPHA:226307
HP:0009381	Short finger	4921	DDR2	OMIM:271665
HP:0009381	Short finger	64840	PORCN	OMIM:305600
HP:0009381	Short finger	26154	ABCA12	OMIM:242500
HP:0009381	Short finger	7840	ALMS1	ORPHA:64
HP:0009381	Short finger	9131	AIFM1	OMIM:300232
HP:0009381	Short finger	6134	RPL10	OMIM:300998
HP:0009381	Short finger	6134	RPL10	ORPHA:459070
HP:0009381	Short finger	5626	PROP1	ORPHA:226307
HP:0009381	Short finger	89884	LHX4	ORPHA:226307
HP:0009381	Short finger	8022	LHX3	ORPHA:226307
HP:0009381	Short finger	5449	POU1F1	ORPHA:226307
HP:0009381	Short finger	4038	LRP4	OMIM:614305
HP:0009381	Short finger	5593	PRKG2	OMIM:619636
HP:0009381	Short finger	1836	SLC26A2	ORPHA:628
HP:0009381	Short finger	1836	SLC26A2	OMIM:222600
HP:0009381	Short finger	1836	SLC26A2	ORPHA:93307
HP:0009381	Short finger	79718	TBL1XR1	OMIM:602342
HP:0009381	Short finger	79718	TBL1XR1	ORPHA:487825
HP:0009381	Short finger	59341	TRPV4	OMIM:156530
HP:0009381	Short finger	2200	FBN1	OMIM:608328
HP:0009381	Short finger	4089	SMAD4	OMIM:139210
HP:0009381	Short finger	2316	FLNA	OMIM:300049
HP:0009381	Short finger	7750	ZMYM2	OMIM:619522
HP:0009381	Short finger	9578	CDC42BPB	OMIM:619841
HP:0009381	Short finger	8481	OFD1	OMIM:300209
HP:0009381	Short finger	55784	MCTP2	ORPHA:1596
HP:0009381	Short finger	176	ACAN	OMIM:612813
HP:0009381	Short finger	3930	LBR	OMIM:215140
HP:0009381	Short finger	427	ASAH1	ORPHA:333
HP:0009381	Short finger	2317	FLNB	OMIM:108720
HP:0009381	Short finger	9896	FIG4	OMIM:216340
HP:0009381	Short finger	9896	FIG4	ORPHA:3472
HP:0009381	Short finger	444	ASPH	OMIM:601552
HP:0009381	Short finger	1513	CTSK	ORPHA:763
HP:0009381	Short finger	84823	LMNB2	OMIM:619180
HP:0009381	Short finger	55697	VAC14	ORPHA:3472
HP:0009381	Short finger	164	AP1G1	OMIM:619467
HP:0009381	Short finger	57178	ZMIZ1	OMIM:618659
HP:0009381	Short finger	6023	RMRP	OMIM:607095
HP:0009381	Short finger	1146	CHRNG	OMIM:253290
HP:0009381	Short finger	1144	CHRND	OMIM:253290
HP:0009381	Short finger	1134	CHRNA1	OMIM:253290
HP:0009381	Short finger	2719	GPC3	OMIM:312870
HP:0009381	Short finger	2239	GPC4	OMIM:312870
HP:0009381	Short finger	7227	TRPS1	OMIM:190351
HP:0009381	Short finger	5130	PCYT1A	OMIM:608940
HP:0009381	Short finger	3480	IGF1R	OMIM:270450
HP:0009381	Short finger	6792	CDKL5	ORPHA:1934
HP:0009381	Short finger	3736	KCNA1	ORPHA:1934
HP:0009381	Short finger	9091	PIGQ	ORPHA:1934
HP:0009381	Short finger	2775	GNAO1	ORPHA:1934
HP:0009381	Short finger	81603	TRIM8	ORPHA:1934
HP:0009381	Short finger	2902	GRIN1	ORPHA:1934
HP:0009381	Short finger	79751	SLC25A22	ORPHA:1934
HP:0009381	Short finger	150094	SIK1	ORPHA:1934
HP:0009381	Short finger	8573	CASK	ORPHA:1934
HP:0009381	Short finger	23312	DMXL2	ORPHA:1934
HP:0009381	Short finger	2917	GRM7	ORPHA:1934
HP:0009381	Short finger	170302	ARX	ORPHA:1934
HP:0009381	Short finger	11284	PNKP	ORPHA:1934
HP:0009381	Short finger	6326	SCN2A	ORPHA:1934
HP:0009381	Short finger	51227	PIGP	ORPHA:1934
HP:0009381	Short finger	6324	SCN1B	ORPHA:1934
HP:0009381	Short finger	4761	NEUROD2	ORPHA:1934
HP:0009381	Short finger	26123	TCTN3	OMIM:258860
HP:0009381	Short finger	2879	GPX4	OMIM:250220
HP:0009381	Short finger	10265	IRX5	OMIM:611174
HP:0009381	Short finger	27152	INTU	OMIM:617926
HP:0009381	Short finger	5293	PIK3CD	ORPHA:221139
HP:0009381	Short finger	90417	KNSTRN	ORPHA:221139
HP:0009381	Short finger	5727	PTCH1	OMIM:109400
HP:0009381	Short finger	3756	KCNH1	ORPHA:420561
HP:0009381	Short finger	100151683	RNU4ATAC	OMIM:210710
HP:0009381	Short finger	23028	KDM1A	OMIM:616728
HP:0009381	Short finger	23028	KDM1A	ORPHA:477993
HP:0009381	Short finger	9401	RECQL4	OMIM:268400
HP:0009381	Short finger	29998	BICRA	OMIM:619325
HP:0009381	Short finger	2175	FANCA	OMIM:227650
HP:0009381	Short finger	1723	DHODH	OMIM:263750
HP:0009381	Short finger	83990	BRIP1	OMIM:609054
HP:0009381	Short finger	324	APC	ORPHA:3258
HP:0009381	Short finger	2188	FANCF	OMIM:603467
HP:0009381	Short finger	54880	BCOR	ORPHA:2712
HP:0009381	Short finger	157570	ESCO2	ORPHA:2319
HP:0009381	Short finger	7020	TFAP2A	OMIM:113620
HP:0009381	Short finger	1717	DHCR7	OMIM:270400
HP:0009381	Short finger	727857	BHLHA9	ORPHA:157801
HP:0009381	Short finger	10815	CPLX1	ORPHA:280
HP:0009381	Short finger	10815	CPLX1	OMIM:194190
HP:0009381	Short finger	54872	PIGG	ORPHA:280
HP:0009381	Short finger	7469	NELFA	ORPHA:280
HP:0009381	Short finger	1487	CTBP1	ORPHA:280
HP:0009381	Short finger	1487	CTBP1	OMIM:194190
HP:0009381	Short finger	3954	LETM1	ORPHA:280
HP:0009381	Short finger	3954	LETM1	OMIM:194190
HP:0009381	Short finger	7468	NSD2	ORPHA:280
HP:0009381	Short finger	7468	NSD2	OMIM:194190
HP:0009381	Short finger	2178	FANCE	OMIM:600901
HP:0009381	Short finger	55636	CHD7	OMIM:214800
HP:0009381	Short finger	25942	SIN3A	OMIM:613406
HP:0009381	Short finger	53834	FGFRL1	OMIM:194190
HP:0009381	Short finger	6135	RPL11	OMIM:612562
HP:0009381	Short finger	6135	RPL11	ORPHA:124
HP:0009381	Short finger	1387	CREBBP	OMIM:180849
HP:0009381	Short finger	2033	EP300	OMIM:180849
HP:0009381	Short finger	6125	RPL5	OMIM:612561
HP:0009381	Short finger	6125	RPL5	ORPHA:124
HP:0009381	Short finger	80036	TRPM3	OMIM:620224
HP:0009381	Short finger	2255	FGF10	OMIM:620193
HP:0009381	Short finger	2255	FGF10	ORPHA:2363
HP:0009381	Short finger	374879	ZNF699	OMIM:619488
HP:0009381	Short finger	79728	PALB2	OMIM:610832
HP:0009381	Short finger	675	BRCA2	OMIM:605724
HP:0009381	Short finger	2177	FANCD2	OMIM:227646
HP:0009381	Short finger	5889	RAD51C	OMIM:613390
HP:0009381	Short finger	2176	FANCC	OMIM:227645
HP:0009381	Short finger	9968	MED12	OMIM:300895
HP:0009381	Short finger	4053	LTBP2	ORPHA:3449
HP:0009381	Short finger	81794	ADAMTS10	ORPHA:3449
HP:0009381	Short finger	84464	SLX4	OMIM:613951
HP:0009381	Short finger	5718	PSMD12	OMIM:617516
HP:0009381	Short finger	374969	SVBP	OMIM:618569
HP:0009381	Short finger	9939	RBM8A	OMIM:274000
HP:0009381	Short finger	6223	RPS19	OMIM:105650
HP:0009381	Short finger	6223	RPS19	ORPHA:124
HP:0009381	Short finger	6138	RPL15	ORPHA:124
HP:0009381	Short finger	6229	RPS24	ORPHA:124
HP:0009381	Short finger	6204	RPS10	ORPHA:124
HP:0009381	Short finger	6224	RPS20	ORPHA:124
HP:0009381	Short finger	6165	RPL35A	ORPHA:124
HP:0009381	Short finger	6232	RPS27	ORPHA:124
HP:0009381	Short finger	6231	RPS26	ORPHA:124
HP:0009381	Short finger	11224	RPL35	ORPHA:124
HP:0009381	Short finger	6160	RPL31	ORPHA:124
HP:0009381	Short finger	6218	RPS17	ORPHA:124
HP:0009381	Short finger	6201	RPS7	ORPHA:124
HP:0009381	Short finger	6155	RPL27	ORPHA:124
HP:0009381	Short finger	6154	RPL26	ORPHA:124
HP:0009381	Short finger	6210	RPS15A	ORPHA:124
HP:0009381	Short finger	90121	TSR2	ORPHA:124
HP:0009381	Short finger	6141	RPL18	ORPHA:124
HP:0009381	Short finger	6235	RPS29	ORPHA:124
HP:0009381	Short finger	6234	RPS28	ORPHA:124
HP:0009381	Short finger	51816	ADA2	ORPHA:124
HP:0009381	Short finger	26100	WIPI2	OMIM:618453
HP:0009381	Short finger	54101	RIPK4	OMIM:263650
HP:0009381	Short finger	29089	UBE2T	OMIM:616435
HP:0009381	Short finger	9488	PIGB	OMIM:618580
HP:0009381	Short finger	10617	STAMBP	OMIM:614261
HP:0009381	Short finger	2335	FN1	ORPHA:93315
HP:0009381	Short finger	23556	PIGN	ORPHA:2059
HP:0009381	Short finger	23556	PIGN	OMIM:614080
HP:0009381	Short finger	51412	ACTL6B	OMIM:618470
HP:0009381	Short finger	57465	TBC1D24	OMIM:220500
HP:0009381	Short finger	57465	TBC1D24	ORPHA:79500
HP:0009381	Short finger	613	BCR	ORPHA:261330
HP:0009381	Short finger	1399	CRKL	ORPHA:261330
HP:0009381	Short finger	5594	MAPK1	ORPHA:261330
HP:0009381	Short finger	4000	LMNA	OMIM:248370
HP:0009381	Short finger	4000	LMNA	ORPHA:90153
HP:0009381	Short finger	5744	PTHLH	ORPHA:93387
HP:0009381	Short finger	3764	KCNJ8	ORPHA:1517
HP:0009381	Short finger	10060	ABCC9	ORPHA:1517
HP:0009381	Short finger	10651	MTX2	ORPHA:90153
HP:0009381	Short finger	57539	WDR35	ORPHA:1515
HP:0009381	Short finger	57539	WDR35	OMIM:614091
HP:0009381	Short finger	112752	IFT43	ORPHA:1515
HP:0009381	Short finger	51098	IFT52	ORPHA:1515
HP:0009381	Short finger	51098	IFT52	OMIM:617102
HP:0009381	Short finger	55764	IFT122	ORPHA:1515
HP:0009381	Short finger	55764	IFT122	OMIM:218330
HP:0009381	Short finger	57728	WDR19	ORPHA:1515
HP:0009381	Short finger	57728	WDR19	OMIM:614378
HP:0009381	Short finger	10269	ZMPSTE24	ORPHA:90154
HP:0009381	Short finger	6926	TBX3	ORPHA:3138
HP:0009381	Short finger	55650	PIGV	OMIM:239300
HP:0009381	Short finger	29957	SLC25A24	ORPHA:2963
HP:0009381	Short finger	29957	SLC25A24	ORPHA:2095
HP:0009381	Short finger	29957	SLC25A24	OMIM:612289
HP:0009381	Short finger	6595	SMARCA2	OMIM:619293
HP:0009381	Short finger	4784	NFIX	OMIM:602535
HP:0009381	Short finger	24140	FTSJ1	OMIM:309549
HP:0009381	Short finger	54496	PRMT7	OMIM:617157
HP:0009381	Short finger	9469	CHST3	OMIM:143095
HP:0009381	Short finger	64359	NXN	ORPHA:1507
HP:0009381	Short finger	8289	ARID1A	OMIM:614607
HP:0009381	Short finger	5566	PRKACA	ORPHA:289
HP:0009381	Short finger	5567	PRKACB	ORPHA:289
HP:0009381	Short finger	2735	GLI1	ORPHA:289
HP:0009381	Short finger	2121	EVC	ORPHA:289
HP:0009381	Short finger	51626	DYNC2LI1	ORPHA:289
HP:0009381	Short finger	132884	EVC2	ORPHA:289
HP:0009381	Short finger	3549	IHH	OMIM:607778
HP:0009381	Short finger	3549	IHH	OMIM:112500
HP:0009381	Short finger	2475	MTOR	OMIM:616638
HP:0009381	Short finger	9419	CRIPT	OMIM:615789
HP:0009381	Short finger	3782	KCNN3	OMIM:618658
HP:0009381	Short finger	4853	NOTCH2	ORPHA:955
HP:0009381	Short finger	54	ACP5	ORPHA:1855
HP:0009381	Short finger	6197	RPS6KA3	ORPHA:192
HP:0009381	Short finger	1300	COL10A1	OMIM:156500
HP:0009381	Short finger	5281	PIGF	OMIM:619356
HP:0009381	Short finger	94005	PIGS	OMIM:618143
HP:0009381	Short finger	2677	GGCX	OMIM:277450
HP:0009381	Short finger	10283	CWC27	OMIM:250410
HP:0009381	Short finger	415	ARSL	ORPHA:79345
HP:0009381	Short finger	415	ARSL	OMIM:302950
HP:0009381	Short finger	526	ATP6V1B2	ORPHA:79500
HP:0009381	Short finger	1311	COMP	OMIM:177170
HP:0009381	Short finger	25839	COG4	OMIM:618150
HP:0009381	Short finger	26137	ZBTB20	OMIM:259050
HP:0009381	Short finger	60401	EDA2R	ORPHA:181
HP:0009381	Short finger	1896	EDA	ORPHA:181
HP:0009381	Short finger	5159	PDGFRB	OMIM:601812
HP:0009381	Short finger	4256	MGP	ORPHA:85202
HP:0009381	Short finger	4256	MGP	OMIM:245150
HP:0009381	Short finger	28952	CCDC22	OMIM:300963
HP:0009381	Short finger	182	JAG1	OMIM:118450
HP:0009381	Short finger	7291	TWIST1	OMIM:617746
HP:0009381	Short finger	6605	SMARCE1	OMIM:616938
HP:0009381	Short finger	3516	RBPJ	ORPHA:974
HP:0009381	Short finger	3516	RBPJ	OMIM:614814
HP:0009381	Short finger	4851	NOTCH1	ORPHA:974
HP:0009381	Short finger	57514	ARHGAP31	ORPHA:974
HP:0009381	Short finger	57572	DOCK6	ORPHA:974
HP:0009381	Short finger	285203	EOGT	ORPHA:974
HP:0009381	Short finger	54567	DLL4	ORPHA:974
HP:0009381	Short finger	50515	CHST11	OMIM:618167
HP:0009381	Short finger	8242	KDM5C	OMIM:300534
HP:0009381	Short finger	6885	MAP3K7	ORPHA:1826
HP:0009381	Short finger	1186	CLCN7	ORPHA:53
HP:0009381	Short finger	2702	GJA5	OMIM:612474
HP:0009381	Short finger	2703	GJA8	OMIM:612474
HP:0009381	Short finger	6664	SOX11	OMIM:615866
HP:0009381	Short finger	55081	IFT57	OMIM:617927
HP:0009381	Short finger	25886	POC1A	OMIM:614813
HP:0009381	Short finger	865	CBFB	OMIM:620099
HP:0009381	Short finger	2535	FZD2	OMIM:164745
HP:0009381	Short finger	2535	FZD2	ORPHA:93328
HP:0009381	Short finger	23476	BRD4	ORPHA:199
HP:0009381	Short finger	9126	SMC3	ORPHA:199
HP:0009381	Short finger	8243	SMC1A	ORPHA:199
HP:0009381	Short finger	25836	NIPBL	ORPHA:199
HP:0009381	Short finger	55869	HDAC8	ORPHA:199
HP:0009381	Short finger	5885	RAD21	ORPHA:199
HP:0009381	Short finger	90	ACVR1	OMIM:135100
HP:0009381	Short finger	57020	VPS35L	OMIM:619135
HP:0009381	Short finger	57167	SALL4	OMIM:147750
HP:0009381	Short finger	3209	HOXA13	OMIM:140000
HP:0009381	Short finger	3209	HOXA13	ORPHA:2438
HP:0009381	Short finger	55215	FANCI	OMIM:609053
HP:0009381	Short finger	6662	SOX9	OMIM:114290
HP:0009381	Short finger	5116	PCNT	OMIM:210720
HP:0009381	Short finger	26040	SETBP1	OMIM:269150
HP:0009381	Short finger	26040	SETBP1	ORPHA:798
HP:0009381	Short finger	388015	RTL1	ORPHA:96334
HP:0009381	Short finger	8788	DLK1	ORPHA:96334
HP:0009381	Short finger	55384	MEG3	ORPHA:96334
HP:0009381	Short finger	3911	LAMA5	OMIM:620076
HP:0009381	Short finger	124583	CANT1	OMIM:251450
HP:0009381	Short finger	2261	FGFR3	ORPHA:15
HP:0006016	Delayed phalangeal epiphyseal ossification	3835	KIF22	OMIM:603546
HP:0006016	Delayed phalangeal epiphyseal ossification	3756	KCNH1	ORPHA:420561
HP:0001156	Brachydactyly	3265	HRAS	ORPHA:79414
HP:0001156	Brachydactyly	2137	EXTL3	ORPHA:508533
HP:0001156	Brachydactyly	2137	EXTL3	OMIM:617425
HP:0001156	Brachydactyly	23394	ADNP	ORPHA:404448
HP:0001156	Brachydactyly	10617	STAMBP	OMIM:614261
HP:0001156	Brachydactyly	28981	IFT81	OMIM:617895
HP:0001156	Brachydactyly	4750	NEK1	OMIM:263520
HP:0001156	Brachydactyly	392255	GDF6	OMIM:617898
HP:0001156	Brachydactyly	1947	EFNB1	ORPHA:1520
HP:0001156	Brachydactyly	1947	EFNB1	OMIM:304110
HP:0001156	Brachydactyly	5238	PGM3	ORPHA:443811
HP:0001156	Brachydactyly	55733	HHAT	OMIM:600092
HP:0001156	Brachydactyly	4047	LSS	ORPHA:2850
HP:0001156	Brachydactyly	197	AHSG	ORPHA:2850
HP:0001156	Brachydactyly	3694	ITGB6	ORPHA:2850
HP:0001156	Brachydactyly	91147	TMEM67	OMIM:602152
HP:0001156	Brachydactyly	1836	SLC26A2	ORPHA:56304
HP:0001156	Brachydactyly	1836	SLC26A2	OMIM:226900
HP:0001156	Brachydactyly	1836	SLC26A2	ORPHA:93307
HP:0001156	Brachydactyly	79848	CSPP1	ORPHA:397715
HP:0001156	Brachydactyly	9786	KIAA0586	ORPHA:397715
HP:0001156	Brachydactyly	114803	MYSM1	ORPHA:508542
HP:0001156	Brachydactyly	149775	GNAS-AS1	OMIM:603233
HP:0001156	Brachydactyly	8675	STX16	OMIM:603233
HP:0001156	Brachydactyly	2778	GNAS	OMIM:603233
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79443
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79444
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79445
HP:0001156	Brachydactyly	2778	GNAS	OMIM:612463
HP:0001156	Brachydactyly	2778	GNAS	OMIM:612462
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:2762
HP:0001156	Brachydactyly	2778	GNAS	OMIM:103580
HP:0001156	Brachydactyly	1855	DVL1	OMIM:616331
HP:0001156	Brachydactyly	1855	DVL1	OMIM:180700
HP:0001156	Brachydactyly	1855	DVL1	ORPHA:3107
HP:0001156	Brachydactyly	55790	CSGALNACT1	OMIM:618870
HP:0001156	Brachydactyly	10026	PIGK	OMIM:618879
HP:0001156	Brachydactyly	28960	DCPS	OMIM:616459
HP:0001156	Brachydactyly	23384	SPECC1L	ORPHA:1519
HP:0001156	Brachydactyly	57539	WDR35	ORPHA:1515
HP:0001156	Brachydactyly	57539	WDR35	OMIM:614091
HP:0001156	Brachydactyly	57539	WDR35	OMIM:613610
HP:0001156	Brachydactyly	112752	IFT43	ORPHA:1515
HP:0001156	Brachydactyly	112752	IFT43	OMIM:614099
HP:0001156	Brachydactyly	112752	IFT43	OMIM:617866
HP:0001156	Brachydactyly	51098	IFT52	ORPHA:1515
HP:0001156	Brachydactyly	51098	IFT52	OMIM:617102
HP:0001156	Brachydactyly	55764	IFT122	ORPHA:1515
HP:0001156	Brachydactyly	55764	IFT122	OMIM:218330
HP:0001156	Brachydactyly	57728	WDR19	ORPHA:1515
HP:0001156	Brachydactyly	57728	WDR19	ORPHA:474
HP:0001156	Brachydactyly	57728	WDR19	OMIM:614376
HP:0001156	Brachydactyly	55636	CHD7	ORPHA:138
HP:0001156	Brachydactyly	9723	SEMA3E	ORPHA:138
HP:0001156	Brachydactyly	57231	SNX14	ORPHA:397709
HP:0001156	Brachydactyly	57231	SNX14	OMIM:616354
HP:0001156	Brachydactyly	1513	CTSK	OMIM:265800
HP:0001156	Brachydactyly	1513	CTSK	ORPHA:763
HP:0001156	Brachydactyly	818	CAMK2G	OMIM:618522
HP:0001156	Brachydactyly	54453	RIN2	OMIM:613075
HP:0001156	Brachydactyly	54453	RIN2	ORPHA:217335
HP:0001156	Brachydactyly	170691	ADAMTS17	OMIM:613195
HP:0001156	Brachydactyly	9469	CHST3	OMIM:143095
HP:0001156	Brachydactyly	9469	CHST3	ORPHA:263463
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:146000
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:1860
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:794
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:429
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:15
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:602849
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:93274
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:93262
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:100800
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:35099
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:187601
HP:0001156	Brachydactyly	54567	DLL4	OMIM:616589
HP:0001156	Brachydactyly	54567	DLL4	ORPHA:974
HP:0001156	Brachydactyly	64359	NXN	OMIM:618529
HP:0001156	Brachydactyly	64359	NXN	ORPHA:1507
HP:0001156	Brachydactyly	7994	KAT6A	ORPHA:457193
HP:0001156	Brachydactyly	7994	KAT6A	OMIM:616268
HP:0001156	Brachydactyly	84100	ARL6	OMIM:209900
HP:0001156	Brachydactyly	84100	ARL6	OMIM:600151
HP:0001156	Brachydactyly	79140	CCDC28B	OMIM:209900
HP:0001156	Brachydactyly	582	BBS1	OMIM:209900
HP:0001156	Brachydactyly	2697	GJA1	ORPHA:2710
HP:0001156	Brachydactyly	2697	GJA1	ORPHA:317
HP:0001156	Brachydactyly	652	BMP4	OMIM:607932
HP:0001156	Brachydactyly	57178	ZMIZ1	OMIM:618659
HP:0001156	Brachydactyly	8036	SHOC2	ORPHA:2701
HP:0001156	Brachydactyly	5500	PPP1CB	ORPHA:2701
HP:0001156	Brachydactyly	7291	TWIST1	OMIM:101400
HP:0001156	Brachydactyly	7291	TWIST1	ORPHA:794
HP:0001156	Brachydactyly	7291	TWIST1	ORPHA:35099
HP:0001156	Brachydactyly	2263	FGFR2	OMIM:101400
HP:0001156	Brachydactyly	2263	FGFR2	ORPHA:794
HP:0001156	Brachydactyly	2263	FGFR2	ORPHA:313855
HP:0001156	Brachydactyly	2263	FGFR2	OMIM:614592
HP:0001156	Brachydactyly	63901	FAM111A	OMIM:602361
HP:0001156	Brachydactyly	81794	ADAMTS10	OMIM:277600
HP:0001156	Brachydactyly	81794	ADAMTS10	ORPHA:3449
HP:0001156	Brachydactyly	57167	SALL4	ORPHA:233
HP:0001156	Brachydactyly	9935	MAFB	ORPHA:233
HP:0001156	Brachydactyly	1123	CHN1	ORPHA:233
HP:0001156	Brachydactyly	55112	DYNC2I1	ORPHA:474
HP:0001156	Brachydactyly	55112	DYNC2I1	OMIM:615503
HP:0001156	Brachydactyly	26160	IFT172	ORPHA:474
HP:0001156	Brachydactyly	26160	IFT172	OMIM:615630
HP:0001156	Brachydactyly	153241	CEP120	ORPHA:474
HP:0001156	Brachydactyly	57560	IFT80	ORPHA:474
HP:0001156	Brachydactyly	57560	IFT80	OMIM:611263
HP:0001156	Brachydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001156	Brachydactyly	51626	DYNC2LI1	OMIM:617088
HP:0001156	Brachydactyly	79659	DYNC2H1	ORPHA:474
HP:0001156	Brachydactyly	79659	DYNC2H1	OMIM:613091
HP:0001156	Brachydactyly	9742	IFT140	ORPHA:474
HP:0001156	Brachydactyly	89891	DYNC2I2	ORPHA:474
HP:0001156	Brachydactyly	89891	DYNC2I2	OMIM:615633
HP:0001156	Brachydactyly	79809	TTC21B	ORPHA:474
HP:0001156	Brachydactyly	79809	TTC21B	OMIM:613819
HP:0001156	Brachydactyly	3981	LIG4	ORPHA:235
HP:0001156	Brachydactyly	54888	NSUN2	ORPHA:235
HP:0001156	Brachydactyly	8493	PPM1D	OMIM:617450
HP:0001156	Brachydactyly	56006	SMG9	OMIM:619995
HP:0001156	Brachydactyly	23126	POGZ	OMIM:616364
HP:0001156	Brachydactyly	55699	IARS2	OMIM:616007
HP:0001156	Brachydactyly	27125	AFF4	OMIM:616368
HP:0001156	Brachydactyly	27125	AFF4	ORPHA:444077
HP:0001156	Brachydactyly	2121	EVC	OMIM:193530
HP:0001156	Brachydactyly	132884	EVC2	OMIM:193530
HP:0001156	Brachydactyly	5590	PRKCZ	ORPHA:1606
HP:0001156	Brachydactyly	2563	GABRD	ORPHA:1606
HP:0001156	Brachydactyly	23013	SPEN	ORPHA:1606
HP:0001156	Brachydactyly	23013	SPEN	OMIM:619312
HP:0001156	Brachydactyly	8510	MMP23B	ORPHA:1606
HP:0001156	Brachydactyly	7798	LUZP1	ORPHA:1606
HP:0001156	Brachydactyly	6497	SKI	ORPHA:1606
HP:0001156	Brachydactyly	10630	PDPN	ORPHA:1606
HP:0001156	Brachydactyly	3339	HSPG2	ORPHA:1606
HP:0001156	Brachydactyly	10277	UBE4B	ORPHA:1606
HP:0001156	Brachydactyly	8514	KCNAB2	ORPHA:1606
HP:0001156	Brachydactyly	473	RERE	ORPHA:1606
HP:0001156	Brachydactyly	63976	PRDM16	ORPHA:1606
HP:0001156	Brachydactyly	54897	CASZ1	ORPHA:1606
HP:0001156	Brachydactyly	1311	COMP	OMIM:177170
HP:0001156	Brachydactyly	1311	COMP	ORPHA:750
HP:0001156	Brachydactyly	1311	COMP	ORPHA:93308
HP:0001156	Brachydactyly	4247	MGAT2	ORPHA:79329
HP:0001156	Brachydactyly	8314	BAP1	OMIM:619762
HP:0001156	Brachydactyly	54928	BPNT2	OMIM:614078
HP:0001156	Brachydactyly	7140	TNNT3	OMIM:618435
HP:0001156	Brachydactyly	124583	CANT1	OMIM:251450
HP:0001156	Brachydactyly	1301	COL11A1	ORPHA:440354
HP:0001156	Brachydactyly	1301	COL11A1	ORPHA:2021
HP:0001156	Brachydactyly	3930	LBR	OMIM:215140
HP:0001156	Brachydactyly	3930	LBR	OMIM:618019
HP:0001156	Brachydactyly	3930	LBR	ORPHA:1426
HP:0001156	Brachydactyly	4488	MSX2	OMIM:604757
HP:0001156	Brachydactyly	5727	PTCH1	ORPHA:377
HP:0001156	Brachydactyly	5727	PTCH1	OMIM:109400
HP:0001156	Brachydactyly	8643	PTCH2	ORPHA:377
HP:0001156	Brachydactyly	51684	SUFU	ORPHA:377
HP:0001156	Brachydactyly	6603	SMARCD2	OMIM:617475
HP:0001156	Brachydactyly	4851	NOTCH1	OMIM:616028
HP:0001156	Brachydactyly	4851	NOTCH1	ORPHA:974
HP:0001156	Brachydactyly	2260	FGFR1	OMIM:166250
HP:0001156	Brachydactyly	2260	FGFR1	ORPHA:2645
HP:0001156	Brachydactyly	23219	FBXO28	OMIM:619777
HP:0001156	Brachydactyly	51322	WAC	ORPHA:466950
HP:0001156	Brachydactyly	29929	ALG6	ORPHA:79320
HP:0001156	Brachydactyly	2317	FLNB	OMIM:272460
HP:0001156	Brachydactyly	2317	FLNB	ORPHA:503
HP:0001156	Brachydactyly	2317	FLNB	ORPHA:1190
HP:0001156	Brachydactyly	2317	FLNB	OMIM:108720
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:1824
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:226960
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:210710
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:616651
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0001156	Brachydactyly	79053	ALG8	ORPHA:79325
HP:0001156	Brachydactyly	257	ALX3	OMIM:136760
HP:0001156	Brachydactyly	257	ALX3	ORPHA:391474
HP:0001156	Brachydactyly	6473	SHOX	ORPHA:240
HP:0001156	Brachydactyly	6595	SMARCA2	OMIM:601358
HP:0001156	Brachydactyly	6595	SMARCA2	ORPHA:3051
HP:0001156	Brachydactyly	7227	TRPS1	OMIM:190351
HP:0001156	Brachydactyly	7227	TRPS1	ORPHA:502
HP:0001156	Brachydactyly	2879	GPX4	OMIM:250220
HP:0001156	Brachydactyly	2737	GLI3	ORPHA:672
HP:0001156	Brachydactyly	23111	SPART	OMIM:275900
HP:0001156	Brachydactyly	8200	GDF5	OMIM:615072
HP:0001156	Brachydactyly	8200	GDF5	OMIM:228900
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:2098
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:3250
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:968
HP:0001156	Brachydactyly	8200	GDF5	OMIM:610017
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:3237
HP:0001156	Brachydactyly	8200	GDF5	OMIM:113100
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:2639
HP:0001156	Brachydactyly	5575	PRKAR1B	OMIM:619680
HP:0001156	Brachydactyly	59341	TRPV4	OMIM:156530
HP:0001156	Brachydactyly	59341	TRPV4	ORPHA:85169
HP:0001156	Brachydactyly	59341	TRPV4	ORPHA:93314
HP:0001156	Brachydactyly	2623	GATA1	OMIM:190685
HP:0001156	Brachydactyly	176	ACAN	OMIM:612813
HP:0001156	Brachydactyly	176	ACAN	ORPHA:171866
HP:0001156	Brachydactyly	176	ACAN	ORPHA:435804
HP:0001156	Brachydactyly	176	ACAN	OMIM:165800
HP:0001156	Brachydactyly	51114	ZDHHC9	ORPHA:776
HP:0001156	Brachydactyly	65109	UPF3B	ORPHA:776
HP:0001156	Brachydactyly	9968	MED12	ORPHA:776
HP:0001156	Brachydactyly	9126	SMC3	OMIM:610759
HP:0001156	Brachydactyly	79068	FTO	OMIM:612938
HP:0001156	Brachydactyly	56975	FAM20C	OMIM:259775
HP:0001156	Brachydactyly	55249	YY1AP1	OMIM:602531
HP:0001156	Brachydactyly	5980	REV3L	ORPHA:570
HP:0001156	Brachydactyly	23129	PLXND1	ORPHA:570
HP:0001156	Brachydactyly	10940	POP1	OMIM:617396
HP:0001156	Brachydactyly	51132	RLIM	OMIM:300978
HP:0001156	Brachydactyly	4141	MARS1	OMIM:619692
HP:0001156	Brachydactyly	1621	DBH	OMIM:223360
HP:0001156	Brachydactyly	4052	LTBP1	OMIM:619451
HP:0001156	Brachydactyly	54496	PRMT7	OMIM:617157
HP:0001156	Brachydactyly	54496	PRMT7	ORPHA:464288
HP:0001156	Brachydactyly	2316	FLNA	ORPHA:88630
HP:0001156	Brachydactyly	2316	FLNA	OMIM:300244
HP:0001156	Brachydactyly	1009	CDH11	OMIM:211380
HP:0001156	Brachydactyly	5077	PAX3	OMIM:148820
HP:0001156	Brachydactyly	10483	SEC23B	ORPHA:201
HP:0001156	Brachydactyly	5728	PTEN	ORPHA:201
HP:0001156	Brachydactyly	6390	SDHB	ORPHA:201
HP:0001156	Brachydactyly	6392	SDHD	ORPHA:201
HP:0001156	Brachydactyly	6391	SDHC	ORPHA:201
HP:0001156	Brachydactyly	207	AKT1	ORPHA:201
HP:0001156	Brachydactyly	205717	USF3	ORPHA:201
HP:0001156	Brachydactyly	5290	PIK3CA	ORPHA:201
HP:0001156	Brachydactyly	100144748	KLLN	ORPHA:201
HP:0001156	Brachydactyly	25942	SIN3A	ORPHA:94065
HP:0001156	Brachydactyly	25942	SIN3A	OMIM:613406
HP:0001156	Brachydactyly	633	BGN	OMIM:300989
HP:0001156	Brachydactyly	633	BGN	OMIM:300106
HP:0001156	Brachydactyly	3977	LIFR	OMIM:601559
HP:0001156	Brachydactyly	10297	APC2	OMIM:617169
HP:0001156	Brachydactyly	7403	KDM6A	OMIM:300867
HP:0001156	Brachydactyly	5144	PDE4D	ORPHA:439822
HP:0001156	Brachydactyly	5144	PDE4D	ORPHA:950
HP:0001156	Brachydactyly	5144	PDE4D	OMIM:614613
HP:0001156	Brachydactyly	5144	PDE4D	ORPHA:280651
HP:0001156	Brachydactyly	6023	RMRP	OMIM:607095
HP:0001156	Brachydactyly	5573	PRKAR1A	OMIM:101800
HP:0001156	Brachydactyly	5573	PRKAR1A	ORPHA:950
HP:0001156	Brachydactyly	5573	PRKAR1A	ORPHA:280651
HP:0001156	Brachydactyly	51715	RAB23	ORPHA:65759
HP:0001156	Brachydactyly	51715	RAB23	OMIM:201000
HP:0001156	Brachydactyly	1954	MEGF8	ORPHA:65759
HP:0001156	Brachydactyly	1954	MEGF8	OMIM:614976
HP:0001156	Brachydactyly	2707	GJB3	ORPHA:317
HP:0001156	Brachydactyly	2531	KDSR	ORPHA:317
HP:0001156	Brachydactyly	127534	GJB4	ORPHA:317
HP:0001156	Brachydactyly	64374	SIL1	ORPHA:559
HP:0001156	Brachydactyly	51763	INPP5K	ORPHA:559
HP:0001156	Brachydactyly	50801	KCNK4	OMIM:618381
HP:0001156	Brachydactyly	65250	CPLANE1	OMIM:277170
HP:0001156	Brachydactyly	65250	CPLANE1	ORPHA:2754
HP:0001156	Brachydactyly	9851	KIAA0753	OMIM:619479
HP:0001156	Brachydactyly	9851	KIAA0753	ORPHA:2754
HP:0001156	Brachydactyly	5977	DPF2	OMIM:618027
HP:0001156	Brachydactyly	94005	PIGS	OMIM:618143
HP:0001156	Brachydactyly	145173	B3GLCT	OMIM:261540
HP:0001156	Brachydactyly	145173	B3GLCT	ORPHA:709
HP:0001156	Brachydactyly	5530	PPP3CA	OMIM:618265
HP:0001156	Brachydactyly	57514	ARHGAP31	OMIM:100300
HP:0001156	Brachydactyly	57514	ARHGAP31	ORPHA:974
HP:0001156	Brachydactyly	285590	SH3PXD2B	ORPHA:137834
HP:0001156	Brachydactyly	658	BMPR1B	ORPHA:2098
HP:0001156	Brachydactyly	658	BMPR1B	OMIM:609441
HP:0001156	Brachydactyly	658	BMPR1B	ORPHA:2639
HP:0001156	Brachydactyly	10283	CWC27	OMIM:250410
HP:0001156	Brachydactyly	10283	CWC27	ORPHA:166035
HP:0001156	Brachydactyly	6513	SLC2A1	ORPHA:168577
HP:0001156	Brachydactyly	9060	PAPSS2	OMIM:612847
HP:0001156	Brachydactyly	4796	TONSL	OMIM:271510
HP:0001156	Brachydactyly	4796	TONSL	ORPHA:93357
HP:0001156	Brachydactyly	2131	EXT1	ORPHA:502
HP:0001156	Brachydactyly	2887	GRB10	ORPHA:96182
HP:0001156	Brachydactyly	8720	MBTPS1	OMIM:618392
HP:0001156	Brachydactyly	1457	CSNK2A1	OMIM:617062
HP:0001156	Brachydactyly	7204	TRIO	OMIM:617061
HP:0001156	Brachydactyly	2077	ERF	OMIM:617180
HP:0001156	Brachydactyly	5130	PCYT1A	ORPHA:85167
HP:0001156	Brachydactyly	5130	PCYT1A	OMIM:608940
HP:0001156	Brachydactyly	90416	CCDC32	OMIM:619123
HP:0001156	Brachydactyly	55717	WDR11	OMIM:620237
HP:0001156	Brachydactyly	23169	SLC35D1	OMIM:269250
HP:0001156	Brachydactyly	3516	RBPJ	ORPHA:974
HP:0001156	Brachydactyly	57572	DOCK6	ORPHA:974
HP:0001156	Brachydactyly	285203	EOGT	ORPHA:974
HP:0001156	Brachydactyly	407975	MIR17HG	ORPHA:391646
HP:0001156	Brachydactyly	3549	IHH	OMIM:112500
HP:0001156	Brachydactyly	3549	IHH	OMIM:607778
HP:0001156	Brachydactyly	23387	SIK3	OMIM:618162
HP:0001156	Brachydactyly	5295	PIK3R1	ORPHA:3163
HP:0001156	Brachydactyly	50515	CHST11	OMIM:618167
HP:0001156	Brachydactyly	51371	POMP	OMIM:618048
HP:0001156	Brachydactyly	57152	SLURP1	OMIM:248300
HP:0001156	Brachydactyly	89970	RSPRY1	ORPHA:457395
HP:0001156	Brachydactyly	9487	PIGL	OMIM:280000
HP:0001156	Brachydactyly	51594	NBAS	OMIM:614800
HP:0001156	Brachydactyly	4000	LMNA	ORPHA:168796
HP:0001156	Brachydactyly	4000	LMNA	OMIM:610140
HP:0001156	Brachydactyly	22800	RRAS2	ORPHA:648
HP:0001156	Brachydactyly	867	CBL	ORPHA:648
HP:0001156	Brachydactyly	8216	LZTR1	ORPHA:648
HP:0001156	Brachydactyly	6016	RIT1	ORPHA:648
HP:0001156	Brachydactyly	6237	RRAS	ORPHA:648
HP:0001156	Brachydactyly	5894	RAF1	ORPHA:648
HP:0001156	Brachydactyly	22808	MRAS	ORPHA:648
HP:0001156	Brachydactyly	3845	KRAS	ORPHA:648
HP:0001156	Brachydactyly	3845	KRAS	ORPHA:3339
HP:0001156	Brachydactyly	200734	SPRED2	ORPHA:648
HP:0001156	Brachydactyly	4893	NRAS	ORPHA:648
HP:0001156	Brachydactyly	6654	SOS1	ORPHA:648
HP:0001156	Brachydactyly	6655	SOS2	ORPHA:648
HP:0001156	Brachydactyly	5781	PTPN11	ORPHA:648
HP:0001156	Brachydactyly	5781	PTPN11	OMIM:163950
HP:0001156	Brachydactyly	5922	RASA2	ORPHA:648
HP:0001156	Brachydactyly	7474	WNT5A	OMIM:180700
HP:0001156	Brachydactyly	7474	WNT5A	ORPHA:3107
HP:0001156	Brachydactyly	9897	WASHC5	ORPHA:7
HP:0001156	Brachydactyly	28952	CCDC22	ORPHA:7
HP:0001156	Brachydactyly	11011	TLK2	OMIM:618050
HP:0001156	Brachydactyly	5567	PRKACB	OMIM:619143
HP:0001156	Brachydactyly	51109	RDH11	ORPHA:436245
HP:0001156	Brachydactyly	25886	POC1A	OMIM:614813
HP:0001156	Brachydactyly	4053	LTBP2	OMIM:614819
HP:0001156	Brachydactyly	4053	LTBP2	ORPHA:3449
HP:0001156	Brachydactyly	2690	GHR	ORPHA:633
HP:0001156	Brachydactyly	8243	SMC1A	OMIM:300590
HP:0001156	Brachydactyly	8450	CUL4B	OMIM:300354
HP:0001156	Brachydactyly	9131	AIFM1	OMIM:300232
HP:0001156	Brachydactyly	5885	RAD21	OMIM:614701
HP:0001156	Brachydactyly	118429	ANTXR2	ORPHA:2176
HP:0001156	Brachydactyly	3209	HOXA13	OMIM:140000
HP:0001156	Brachydactyly	5447	POR	ORPHA:95699
HP:0001156	Brachydactyly	374654	KIF7	OMIM:200990
HP:0001156	Brachydactyly	374654	KIF7	ORPHA:2754
HP:0001156	Brachydactyly	22858	CILK1	OMIM:612651
HP:0001156	Brachydactyly	2314	FLII	ORPHA:819
HP:0001156	Brachydactyly	23096	IQSEC2	ORPHA:819
HP:0001156	Brachydactyly	10743	RAI1	ORPHA:819
HP:0001156	Brachydactyly	10743	RAI1	OMIM:182290
HP:0001156	Brachydactyly	10522	DEAF1	ORPHA:819
HP:0001156	Brachydactyly	10847	SRCAP	ORPHA:2044
HP:0001156	Brachydactyly	10847	SRCAP	OMIM:136140
HP:0001156	Brachydactyly	1717	DHCR7	ORPHA:818
HP:0001156	Brachydactyly	26153	KIF26A	OMIM:620156
HP:0001156	Brachydactyly	56992	KIF15	ORPHA:261323
HP:0001156	Brachydactyly	23522	KAT6B	OMIM:606170
HP:0001156	Brachydactyly	8289	ARID1A	OMIM:614607
HP:0001156	Brachydactyly	2200	FBN1	ORPHA:969
HP:0001156	Brachydactyly	2200	FBN1	OMIM:608328
HP:0001156	Brachydactyly	2200	FBN1	ORPHA:3449
HP:0001156	Brachydactyly	4054	LTBP3	ORPHA:969
HP:0001156	Brachydactyly	4054	LTBP3	OMIM:617809
HP:0001156	Brachydactyly	546	ATRX	ORPHA:847
HP:0001156	Brachydactyly	546	ATRX	OMIM:309580
HP:0001156	Brachydactyly	222663	SCUBE3	OMIM:619184
HP:0001156	Brachydactyly	860	RUNX2	OMIM:119600
HP:0001156	Brachydactyly	860	RUNX2	ORPHA:1452
HP:0001156	Brachydactyly	6885	MAP3K7	OMIM:157800
HP:0001156	Brachydactyly	6885	MAP3K7	ORPHA:3238
HP:0001156	Brachydactyly	79813	EHMT1	OMIM:610253
HP:0001156	Brachydactyly	51021	MRPS16	OMIM:610498
HP:0001156	Brachydactyly	1302	COL11A2	ORPHA:2021
HP:0001156	Brachydactyly	1302	COL11A2	ORPHA:1427
HP:0001156	Brachydactyly	4853	NOTCH2	ORPHA:955
HP:0001156	Brachydactyly	2254	FGF9	ORPHA:3237
HP:0001156	Brachydactyly	1802	DPH2	OMIM:620062
HP:0001156	Brachydactyly	5307	PITX1	OMIM:186550
HP:0001156	Brachydactyly	5307	PITX1	ORPHA:1275
HP:0001156	Brachydactyly	1857	DVL3	ORPHA:3107
HP:0001156	Brachydactyly	1857	DVL3	OMIM:616894
HP:0001156	Brachydactyly	2535	FZD2	ORPHA:3107
HP:0001156	Brachydactyly	10908	PNPLA6	ORPHA:2377
HP:0001156	Brachydactyly	55165	CEP55	OMIM:236500
HP:0001156	Brachydactyly	157570	ESCO2	ORPHA:3103
HP:0001156	Brachydactyly	157570	ESCO2	OMIM:268300
HP:0001156	Brachydactyly	55343	SLC35C1	OMIM:266265
HP:0001156	Brachydactyly	55027	HEATR3	OMIM:620072
HP:0001156	Brachydactyly	10236	HNRNPR	OMIM:620073
HP:0001156	Brachydactyly	4089	SMAD4	OMIM:139210
HP:0001156	Brachydactyly	4089	SMAD4	ORPHA:2588
HP:0001156	Brachydactyly	9321	TRIP11	OMIM:184260
HP:0001156	Brachydactyly	5159	PDGFRB	OMIM:601812
HP:0001156	Brachydactyly	8481	OFD1	OMIM:311200
HP:0001156	Brachydactyly	8481	OFD1	ORPHA:2750
HP:0001156	Brachydactyly	8481	OFD1	ORPHA:2754
HP:0001156	Brachydactyly	9555	MACROH2A1	ORPHA:1275
HP:0001156	Brachydactyly	8242	KDM5C	OMIM:300534
HP:0001156	Brachydactyly	727857	BHLHA9	ORPHA:3329
HP:0001156	Brachydactyly	7048	TGFBR2	OMIM:610168
HP:0001156	Brachydactyly	8195	MKKS	ORPHA:2473
HP:0001156	Brachydactyly	4882	NPR2	ORPHA:40
HP:0001156	Brachydactyly	22856	CHSY1	OMIM:605282
HP:0001156	Brachydactyly	22856	CHSY1	ORPHA:363417
HP:0001156	Brachydactyly	50945	TBX22	ORPHA:921
HP:0001156	Brachydactyly	2702	GJA5	OMIM:612474
HP:0001156	Brachydactyly	2702	GJA5	ORPHA:3303
HP:0001156	Brachydactyly	2703	GJA8	OMIM:612474
HP:0001156	Brachydactyly	585	BBS4	OMIM:615982
HP:0001156	Brachydactyly	129880	BBS5	OMIM:615983
HP:0001156	Brachydactyly	27241	BBS9	OMIM:615986
HP:0001156	Brachydactyly	9894	TELO2	OMIM:616954
HP:0001156	Brachydactyly	9894	TELO2	ORPHA:488642
HP:0001156	Brachydactyly	196528	ARID2	OMIM:617808
HP:0001156	Brachydactyly	55081	IFT57	OMIM:617927
HP:0001156	Brachydactyly	26123	TCTN3	OMIM:258860
HP:0001156	Brachydactyly	26123	TCTN3	ORPHA:2754
HP:0001156	Brachydactyly	10075	HUWE1	OMIM:309590
HP:0001156	Brachydactyly	6938	TCF12	ORPHA:35099
HP:0001156	Brachydactyly	6938	TCF12	OMIM:615314
HP:0001156	Brachydactyly	7545	ZIC1	ORPHA:35099
HP:0001156	Brachydactyly	2245	FGD1	OMIM:305400
HP:0001156	Brachydactyly	92482	BBIP1	OMIM:615995
HP:0001156	Brachydactyly	51621	KLF13	OMIM:612001
HP:0001156	Brachydactyly	1139	CHRNA7	OMIM:612001
HP:0001156	Brachydactyly	54585	LZTFL1	OMIM:615994
HP:0001156	Brachydactyly	1482	NKX2-5	ORPHA:3303
HP:0001156	Brachydactyly	137814	NKX2-6	ORPHA:3303
HP:0001156	Brachydactyly	23414	ZFPM2	ORPHA:3303
HP:0001156	Brachydactyly	2626	GATA4	ORPHA:3303
HP:0001156	Brachydactyly	3791	KDR	ORPHA:3303
HP:0001156	Brachydactyly	2627	GATA6	ORPHA:3303
HP:0001156	Brachydactyly	2657	GDF1	ORPHA:3303
HP:0001156	Brachydactyly	182	JAG1	ORPHA:3303
HP:0001156	Brachydactyly	6899	TBX1	ORPHA:3303
HP:0001156	Brachydactyly	140628	GATA5	ORPHA:3303
HP:0001156	Brachydactyly	2324	FLT4	ORPHA:3303
HP:0001156	Brachydactyly	10370	CITED2	ORPHA:3303
HP:0001156	Brachydactyly	23291	FBXW11	OMIM:618914
HP:0001156	Brachydactyly	5053	PAH	ORPHA:2209
HP:0001156	Brachydactyly	389827	MYMK	ORPHA:1358
HP:0001156	Brachydactyly	101929726	MYMX	ORPHA:1358
HP:0001156	Brachydactyly	54808	DYM	OMIM:223800
HP:0001156	Brachydactyly	2239	GPC4	OMIM:301026
HP:0001156	Brachydactyly	5925	RB1	ORPHA:1587
HP:0001156	Brachydactyly	3759	KCNJ2	OMIM:170390
HP:0001156	Brachydactyly	23028	KDM1A	ORPHA:477993
HP:0001156	Brachydactyly	114548	NLRP3	ORPHA:1451
HP:0001156	Brachydactyly	29980	DONSON	OMIM:617604
HP:0001156	Brachydactyly	5116	PCNT	OMIM:210720
HP:0001156	Brachydactyly	5116	PCNT	ORPHA:2637
HP:0001156	Brachydactyly	54551	MAGEL2	OMIM:615547
HP:0001156	Brachydactyly	9419	CRIPT	OMIM:615789
HP:0001156	Brachydactyly	6638	SNRPN	ORPHA:177907
HP:0001156	Brachydactyly	9361	LONP1	ORPHA:1458
HP:0001156	Brachydactyly	64840	PORCN	OMIM:305600
HP:0001156	Brachydactyly	538	ATP7A	ORPHA:198
HP:0001156	Brachydactyly	6197	RPS6KA3	ORPHA:192
HP:0001156	Brachydactyly	8092	ALX1	ORPHA:306542
HP:0001156	Brachydactyly	9791	PTDSS1	ORPHA:2658
HP:0001156	Brachydactyly	117581	TWIST2	OMIM:209885
HP:0001156	Brachydactyly	54361	WNT4	ORPHA:247768
HP:0001156	Brachydactyly	23556	PIGN	ORPHA:280633
HP:0001156	Brachydactyly	55617	TASP1	OMIM:618950
HP:0001156	Brachydactyly	526	ATP6V1B2	OMIM:124480
HP:0001156	Brachydactyly	113246	C12orf57	OMIM:218340
HP:0001156	Brachydactyly	4094	MAF	OMIM:601088
HP:0001156	Brachydactyly	5331	PLCB3	OMIM:618961
HP:0001156	Brachydactyly	387	RHOA	OMIM:618727
HP:0001156	Brachydactyly	6913	TBX15	ORPHA:93333
HP:0001156	Brachydactyly	10210	TOPORS	ORPHA:2754
HP:0001156	Brachydactyly	5147	PDE6D	ORPHA:2754
HP:0001156	Brachydactyly	51259	TMEM216	ORPHA:2754
HP:0001156	Brachydactyly	317662	FAM149B1	ORPHA:2754
HP:0001156	Brachydactyly	23404	EXOSC2	OMIM:617763
HP:0001156	Brachydactyly	2036	EPB41L1	OMIM:614257
HP:0001156	Brachydactyly	3636	INPPL1	ORPHA:2746
HP:0001156	Brachydactyly	406932	MIR140	OMIM:618618
HP:0001156	Brachydactyly	25871	NEPRO	OMIM:618853
HP:0001156	Brachydactyly	255758	DYNLT2B	OMIM:617405
HP:0001156	Brachydactyly	5604	MAP2K1	OMIM:163950
HP:0001156	Brachydactyly	673	BRAF	OMIM:163950
HP:0001156	Brachydactyly	650	BMP2	OMIM:112600
HP:0001156	Brachydactyly	650	BMP2	ORPHA:93396
HP:0001156	Brachydactyly	4613	MYCN	ORPHA:391641
HP:0001156	Brachydactyly	7021	TFAP2B	ORPHA:46627
HP:0001156	Brachydactyly	3481	IGF2	OMIM:180860
HP:0001156	Brachydactyly	51199	NIN	ORPHA:319675
HP:0001156	Brachydactyly	51199	NIN	OMIM:614851
HP:0001156	Brachydactyly	22827	PUF60	ORPHA:508488
HP:0001156	Brachydactyly	2783	GNB2	OMIM:619503
HP:0001156	Brachydactyly	5932	RBBP8	OMIM:251255
HP:0001156	Brachydactyly	9241	NOG	ORPHA:140908
HP:0001156	Brachydactyly	4920	ROR2	OMIM:113000
HP:0001156	Brachydactyly	9759	HDAC4	OMIM:600430
HP:0001156	Brachydactyly	5139	PDE3A	OMIM:112410
HP:0001156	Brachydactyly	5744	PTHLH	ORPHA:93387
HP:0001156	Brachydactyly	3239	HOXD13	ORPHA:93387
HP:0001156	Brachydactyly	3239	HOXD13	OMIM:113300
HP:0001156	Brachydactyly	1280	COL2A1	ORPHA:1856
HP:0001156	Brachydactyly	79005	SCNM1	OMIM:620107
HP:0001156	Brachydactyly	5745	PTH1R	OMIM:600002
HP:0010709	2-4 finger syndactyly	81607	NECTIN4	OMIM:613573
HP:0010709	2-4 finger syndactyly	1001	CDH3	OMIM:225280
HP:0010709	2-4 finger syndactyly	6299	SALL1	OMIM:107480
HP:0010709	2-4 finger syndactyly	7291	TWIST1	OMIM:617746
HP:0010709	2-4 finger syndactyly	8318	CDC45	OMIM:617063
HP:0006019	Reduced proximal interphalangeal joint space	1280	COL2A1	ORPHA:166011
HP:0004231	Carpal bone aplasia	9401	RECQL4	OMIM:218600
HP:0004231	Carpal bone aplasia	64327	LMBR1	OMIM:200500
HP:0004231	Carpal bone aplasia	7476	WNT7A	OMIM:276820
HP:0004231	Carpal bone aplasia	7516	XRCC2	OMIM:617247
HP:0006144	Shortening of all proximal phalanges of the fingers	1280	COL2A1	OMIM:271700
HP:0006144	Shortening of all proximal phalanges of the fingers	8200	GDF5	OMIM:201250
HP:0009463	Ulnar deviation of the 3rd finger	51651	PTRH2	OMIM:616263
HP:0009463	Ulnar deviation of the 3rd finger	51651	PTRH2	ORPHA:456312
HP:0009463	Ulnar deviation of the 3rd finger	8200	GDF5	OMIM:113100
HP:0010231	Enlarged epiphyses of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010231	Enlarged epiphyses of the phalanges of the hand	6399	TRAPPC2	ORPHA:93284
HP:0001230	Broad metacarpals	4313	MMP2	ORPHA:371428
HP:0001230	Broad metacarpals	4313	MMP2	OMIM:259600
HP:0001230	Broad metacarpals	4323	MMP14	ORPHA:371428
HP:0001230	Broad metacarpals	4323	MMP14	OMIM:277950
HP:0001230	Broad metacarpals	2137	EXTL3	ORPHA:508533
HP:0001230	Broad metacarpals	1836	SLC26A2	ORPHA:56304
HP:0001230	Broad metacarpals	4921	DDR2	OMIM:271665
HP:0001230	Broad metacarpals	2200	FBN1	OMIM:608328
HP:0001230	Broad metacarpals	4882	NPR2	OMIM:602875
HP:0001230	Broad metacarpals	7030	TFE3	OMIM:301066
HP:0001230	Broad metacarpals	633	BGN	OMIM:300106
HP:0001230	Broad metacarpals	9742	IFT140	OMIM:266920
HP:0001230	Broad metacarpals	5144	PDE4D	ORPHA:439822
HP:0001230	Broad metacarpals	2260	FGFR1	OMIM:166250
HP:0001230	Broad metacarpals	1788	DNMT3A	OMIM:618724
HP:0001230	Broad metacarpals	2720	GLB1	ORPHA:79255
HP:0001230	Broad metacarpals	3549	IHH	ORPHA:93388
HP:0001230	Broad metacarpals	8200	GDF5	ORPHA:93388
HP:0001230	Broad metacarpals	658	BMPR1B	ORPHA:93388
HP:0001230	Broad metacarpals	81794	ADAMTS10	OMIM:277600
HP:0001230	Broad metacarpals	2778	GNAS	ORPHA:79443
HP:0009177	Proximal/middle symphalangism of 5th finger	9241	NOG	OMIM:186500
HP:0009177	Proximal/middle symphalangism of 5th finger	9241	NOG	OMIM:184460
HP:0009177	Proximal/middle symphalangism of 5th finger	4920	ROR2	OMIM:268310
HP:0009177	Proximal/middle symphalangism of 5th finger	8200	GDF5	OMIM:615298
HP:0009177	Proximal/middle symphalangism of 5th finger	727857	BHLHA9	OMIM:609432
HP:0010035	Aplasia of the 1st metacarpal	7516	XRCC2	OMIM:617247
HP:0010035	Aplasia of the 1st metacarpal	2177	FANCD2	OMIM:227646
HP:0010035	Aplasia of the 1st metacarpal	9896	FIG4	ORPHA:3472
HP:0010035	Aplasia of the 1st metacarpal	55697	VAC14	ORPHA:3472
HP:0010035	Aplasia of the 1st metacarpal	64327	LMBR1	ORPHA:93321
HP:0010035	Aplasia of the 1st metacarpal	6469	SHH	ORPHA:93321
HP:0010035	Aplasia of the 1st metacarpal	7204	TRIO	ORPHA:476126
HP:0006028	Metaphyseal cupping of metacarpals	1300	COL10A1	ORPHA:174
HP:0006028	Metaphyseal cupping of metacarpals	1300	COL10A1	OMIM:156500
HP:0006028	Metaphyseal cupping of metacarpals	10013	HDAC6	ORPHA:163966
HP:0006028	Metaphyseal cupping of metacarpals	10013	HDAC6	OMIM:300863
HP:0006028	Metaphyseal cupping of metacarpals	9131	AIFM1	OMIM:300232
HP:0006028	Metaphyseal cupping of metacarpals	6023	RMRP	OMIM:250460
HP:0001498	Carpal bone hypoplasia	1311	COMP	OMIM:177170
HP:0001498	Carpal bone hypoplasia	54808	DYM	OMIM:223800
HP:0001498	Carpal bone hypoplasia	59341	TRPV4	OMIM:184252
HP:0001498	Carpal bone hypoplasia	59341	TRPV4	ORPHA:93314
HP:0001498	Carpal bone hypoplasia	3835	KIF22	OMIM:603546
HP:0001498	Carpal bone hypoplasia	9451	EIF2AK3	OMIM:226980
HP:0001498	Carpal bone hypoplasia	23233	EXOC6B	OMIM:618395
HP:0001498	Carpal bone hypoplasia	89970	RSPRY1	ORPHA:457395
HP:0001498	Carpal bone hypoplasia	89970	RSPRY1	OMIM:616723
HP:0001498	Carpal bone hypoplasia	57167	SALL4	OMIM:147750
HP:0001498	Carpal bone hypoplasia	54187	NANS	OMIM:610442
HP:0001498	Carpal bone hypoplasia	79158	GNPTAB	OMIM:252600
HP:0001498	Carpal bone hypoplasia	79158	GNPTAB	OMIM:252500
HP:0001498	Carpal bone hypoplasia	9939	RBM8A	OMIM:274000
HP:0001498	Carpal bone hypoplasia	5832	ALDH18A1	OMIM:601162
HP:0006109	Absent phalangeal crease	7169	TPM2	OMIM:108120
HP:0006109	Absent phalangeal crease	4010	LMX1B	OMIM:161200
HP:0006109	Absent phalangeal crease	3549	IHH	OMIM:112500
HP:0006109	Absent phalangeal crease	3239	HOXD13	OMIM:186300
HP:0006109	Absent phalangeal crease	11011	TLK2	OMIM:618050
HP:0006109	Absent phalangeal crease	5932	RBBP8	OMIM:251255
HP:0006109	Absent phalangeal crease	4233	MET	OMIM:620019
HP:0006109	Absent phalangeal crease	6913	TBX15	OMIM:260660
HP:0006109	Absent phalangeal crease	9241	NOG	OMIM:611377
HP:0006109	Absent phalangeal crease	4621	MYH3	OMIM:618469
HP:0006109	Absent phalangeal crease	1278	COL1A2	ORPHA:230851
HP:0006109	Absent phalangeal crease	7136	TNNI2	OMIM:601680
HP:0006109	Absent phalangeal crease	63895	PIEZO2	OMIM:108145
HP:0006109	Absent phalangeal crease	4920	ROR2	OMIM:268310
HP:0006109	Absent phalangeal crease	5648	MASP1	OMIM:257920
HP:0001182	Tapered finger	8367	H4C5	OMIM:619950
HP:0001182	Tapered finger	9853	RUSC2	OMIM:617773
HP:0001182	Tapered finger	23019	CNOT1	OMIM:619033
HP:0001182	Tapered finger	26128	KIFBP	OMIM:609460
HP:0001182	Tapered finger	2972	BRF1	OMIM:616202
HP:0001182	Tapered finger	2972	BRF1	ORPHA:444072
HP:0001182	Tapered finger	56916	SMARCAD1	OMIM:129200
HP:0001182	Tapered finger	56916	SMARCAD1	OMIM:181600
HP:0001182	Tapered finger	374654	KIF7	OMIM:200990
HP:0001182	Tapered finger	374654	KIF7	OMIM:607131
HP:0001182	Tapered finger	9578	CDC42BPB	OMIM:619841
HP:0001182	Tapered finger	3020	H3-3A	OMIM:619720
HP:0001182	Tapered finger	170302	ARX	OMIM:300004
HP:0001182	Tapered finger	3021	H3-3B	OMIM:619721
HP:0001182	Tapered finger	10300	KATNB1	OMIM:616212
HP:0001182	Tapered finger	2624	GATA2	OMIM:614038
HP:0001182	Tapered finger	55904	KMT2E	OMIM:618512
HP:0001182	Tapered finger	10978	CLP1	OMIM:615803
HP:0001182	Tapered finger	55650	PIGV	OMIM:239300
HP:0001182	Tapered finger	6335	SCN9A	ORPHA:970
HP:0001182	Tapered finger	65125	WNK1	ORPHA:970
HP:0001182	Tapered finger	54463	RETREG1	ORPHA:970
HP:0001182	Tapered finger	547	KIF1A	ORPHA:970
HP:0001182	Tapered finger	547	KIF1A	ORPHA:2836
HP:0001182	Tapered finger	6595	SMARCA2	OMIM:619293
HP:0001182	Tapered finger	6197	RPS6KA3	OMIM:303600
HP:0001182	Tapered finger	6197	RPS6KA3	ORPHA:276630
HP:0001182	Tapered finger	6197	RPS6KA3	ORPHA:192
HP:0001182	Tapered finger	80204	FBXO11	OMIM:618089
HP:0001182	Tapered finger	113189	CHST14	ORPHA:2953
HP:0001182	Tapered finger	29940	DSE	ORPHA:2953
HP:0001182	Tapered finger	1889	ECE1	OMIM:613870
HP:0001182	Tapered finger	9326	ZNHIT3	ORPHA:2836
HP:0001182	Tapered finger	9326	ZNHIT3	OMIM:260565
HP:0001182	Tapered finger	2770	GNAI1	OMIM:619854
HP:0001182	Tapered finger	83550	GPR101	ORPHA:963
HP:0001182	Tapered finger	9049	AIP	ORPHA:963
HP:0001182	Tapered finger	157680	VPS13B	OMIM:216550
HP:0001182	Tapered finger	157680	VPS13B	ORPHA:193
HP:0001182	Tapered finger	2626	GATA4	ORPHA:251071
HP:0001182	Tapered finger	84823	LMNB2	OMIM:619180
HP:0001182	Tapered finger	9896	FIG4	ORPHA:3472
HP:0001182	Tapered finger	9896	FIG4	OMIM:216340
HP:0001182	Tapered finger	55697	VAC14	ORPHA:3472
HP:0001182	Tapered finger	1656	DDX6	OMIM:618653
HP:0001182	Tapered finger	4297	KMT2A	ORPHA:319182
HP:0001182	Tapered finger	4297	KMT2A	OMIM:605130
HP:0001182	Tapered finger	57178	ZMIZ1	OMIM:618659
HP:0001182	Tapered finger	2783	GNB2	OMIM:619503
HP:0001182	Tapered finger	6792	CDKL5	OMIM:300672
HP:0001182	Tapered finger	7025	NR2F1	ORPHA:401777
HP:0001182	Tapered finger	7025	NR2F1	OMIM:615722
HP:0001182	Tapered finger	253738	EBF3	OMIM:617330
HP:0001182	Tapered finger	51633	OTUD6B	OMIM:617452
HP:0001182	Tapered finger	51633	OTUD6B	ORPHA:505237
HP:0001182	Tapered finger	55699	IARS2	OMIM:616007
HP:0001182	Tapered finger	8239	USP9X	ORPHA:480880
HP:0001182	Tapered finger	8239	USP9X	OMIM:300968
HP:0001182	Tapered finger	285175	UNC80	OMIM:616801
HP:0001182	Tapered finger	79753	SNIP1	OMIM:614501
HP:0001182	Tapered finger	6134	RPL10	ORPHA:459070
HP:0001182	Tapered finger	6134	RPL10	OMIM:300998
HP:0001182	Tapered finger	6134	RPL10	ORPHA:435938
HP:0001182	Tapered finger	1859	DYRK1A	ORPHA:464311
HP:0001182	Tapered finger	1859	DYRK1A	ORPHA:268261
HP:0001182	Tapered finger	55027	HEATR3	OMIM:620072
HP:0001182	Tapered finger	1303	COL12A1	ORPHA:536516
HP:0001182	Tapered finger	51611	DPH5	OMIM:620070
HP:0001182	Tapered finger	79813	EHMT1	ORPHA:261652
HP:0001182	Tapered finger	58508	KMT2C	ORPHA:261652
HP:0001182	Tapered finger	4094	MAF	ORPHA:1272
HP:0001182	Tapered finger	4094	MAF	OMIM:601088
HP:0001182	Tapered finger	7750	ZMYM2	OMIM:619522
HP:0001182	Tapered finger	5594	MAPK1	OMIM:619087
HP:0001182	Tapered finger	4849	CNOT3	OMIM:618672
HP:0001182	Tapered finger	6942	TCF20	OMIM:618430
HP:0001182	Tapered finger	81887	LAS1L	ORPHA:3459
HP:0001182	Tapered finger	81887	LAS1L	OMIM:309585
HP:0001182	Tapered finger	55869	HDAC8	ORPHA:3459
HP:0001182	Tapered finger	7140	TNNT3	OMIM:618435
HP:0001182	Tapered finger	6925	TCF4	OMIM:610954
HP:0001182	Tapered finger	6925	TCF4	ORPHA:2896
HP:0001182	Tapered finger	7030	TFE3	OMIM:301066
HP:0001182	Tapered finger	546	ATRX	OMIM:309580
HP:0001182	Tapered finger	546	ATRX	OMIM:301040
HP:0001182	Tapered finger	57479	PRR12	OMIM:619539
HP:0001182	Tapered finger	374969	SVBP	OMIM:618569
HP:0001182	Tapered finger	84295	PHF6	ORPHA:127
HP:0001182	Tapered finger	84295	PHF6	OMIM:301900
HP:0001182	Tapered finger	91252	SLC39A13	ORPHA:157965
HP:0001182	Tapered finger	91252	SLC39A13	OMIM:612350
HP:0001182	Tapered finger	1749	DLX5	OMIM:220600
HP:0001182	Tapered finger	171023	ASXL1	OMIM:605039
HP:0001182	Tapered finger	55023	PHIP	ORPHA:589905
HP:0001182	Tapered finger	55023	PHIP	OMIM:617991
HP:0001182	Tapered finger	22907	DHX30	OMIM:617804
HP:0001182	Tapered finger	9230	RAB11B	OMIM:617807
HP:0001182	Tapered finger	5277	PIGA	OMIM:301072
HP:0001182	Tapered finger	389827	MYMK	OMIM:254940
HP:0001182	Tapered finger	10075	HUWE1	OMIM:309590
HP:0001182	Tapered finger	9488	PIGB	OMIM:618580
HP:0001182	Tapered finger	8243	SMC1A	OMIM:301044
HP:0001182	Tapered finger	23013	SPEN	OMIM:619312
HP:0001182	Tapered finger	56896	DPYSL5	OMIM:619435
HP:0001182	Tapered finger	9698	PUM1	OMIM:617931
HP:0001182	Tapered finger	23394	ADNP	OMIM:615873
HP:0001182	Tapered finger	23028	KDM1A	OMIM:616728
HP:0001182	Tapered finger	23028	KDM1A	ORPHA:477993
HP:0001182	Tapered finger	5575	PRKAR1B	OMIM:619680
HP:0001182	Tapered finger	91179	SCARF2	OMIM:600920
HP:0001182	Tapered finger	6492	SIM1	ORPHA:171829
HP:0001182	Tapered finger	2782	GNB1	OMIM:616973
HP:0001182	Tapered finger	4953	ODC1	ORPHA:544488
HP:0001182	Tapered finger	998	CDC42	OMIM:616737
HP:0001182	Tapered finger	998	CDC42	ORPHA:487796
HP:0001182	Tapered finger	3097	HIVEP2	OMIM:616977
HP:0001182	Tapered finger	10982	MAPRE2	OMIM:616734
HP:0001182	Tapered finger	4131	MAP1B	OMIM:618918
HP:0001182	Tapered finger	56915	EXOSC5	OMIM:619576
HP:0001182	Tapered finger	10588	MTHFS	OMIM:618367
HP:0001182	Tapered finger	63035	BCORL1	OMIM:301029
HP:0001182	Tapered finger	10265	IRX5	OMIM:611174
HP:0001182	Tapered finger	1108	CHD4	OMIM:617159
HP:0001182	Tapered finger	91137	SLC25A46	OMIM:616505
HP:0001182	Tapered finger	8604	SLC25A12	OMIM:612949
HP:0001182	Tapered finger	7703	PCGF2	OMIM:618371
HP:0001182	Tapered finger	83696	TRAPPC9	ORPHA:352530
HP:0001182	Tapered finger	92949	ADAMTSL1	ORPHA:521445
HP:0001182	Tapered finger	860	RUNX2	ORPHA:1452
HP:0001182	Tapered finger	54551	MAGEL2	OMIM:615547
HP:0001182	Tapered finger	2697	GJA1	ORPHA:317
HP:0001182	Tapered finger	2707	GJB3	ORPHA:317
HP:0001182	Tapered finger	2531	KDSR	ORPHA:317
HP:0001182	Tapered finger	127534	GJB4	ORPHA:317
HP:0001182	Tapered finger	9244	CRLF1	OMIM:272430
HP:0001182	Tapered finger	8812	CCNK	OMIM:618147
HP:0001182	Tapered finger	112858	TP53RK	OMIM:617730
HP:0001182	Tapered finger	7204	TRIO	OMIM:618825
HP:0001182	Tapered finger	7204	TRIO	OMIM:617061
HP:0001182	Tapered finger	7204	TRIO	ORPHA:476126
HP:0001182	Tapered finger	9894	TELO2	ORPHA:488642
HP:0001182	Tapered finger	80036	TRPM3	OMIM:620224
HP:0001182	Tapered finger	8936	WASF1	OMIM:618707
HP:0001182	Tapered finger	8405	SPOP	OMIM:618829
HP:0001182	Tapered finger	23630	KCNE5	ORPHA:86818
HP:0001182	Tapered finger	2182	ACSL4	ORPHA:86818
HP:0001182	Tapered finger	9949	AMMECR1	ORPHA:86818
HP:0001182	Tapered finger	11198	SUPT16H	OMIM:619480
HP:0001182	Tapered finger	23556	PIGN	ORPHA:280633
HP:0001182	Tapered finger	23067	SETD1B	OMIM:619000
HP:0001182	Tapered finger	23233	EXOC6B	OMIM:618395
HP:0001182	Tapered finger	5075	PAX1	OMIM:615560
HP:0001182	Tapered finger	55704	CCDC88A	OMIM:617507
HP:0001182	Tapered finger	1376	CPT2	OMIM:608836
HP:0001182	Tapered finger	8242	KDM5C	ORPHA:85279
HP:0001182	Tapered finger	1315	COPB1	OMIM:619255
HP:0001182	Tapered finger	51317	PHF21A	OMIM:618725
HP:0001182	Tapered finger	1968	EIF2S3	ORPHA:85282
HP:0001182	Tapered finger	5557	PRIM1	OMIM:620005
HP:0001182	Tapered finger	1795	DOCK3	OMIM:618292
HP:0001182	Tapered finger	3636	INPPL1	ORPHA:2746
HP:0001182	Tapered finger	4654	MYOD1	OMIM:618975
HP:0001182	Tapered finger	11342	RNF13	ORPHA:544503
HP:0001182	Tapered finger	9990	SLC12A6	OMIM:218000
HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	7227	TRPS1	OMIM:190351
HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010442	Polydactyly	8022	LHX3	ORPHA:226307
HP:0010442	Polydactyly	1947	EFNB1	ORPHA:1520
HP:0010442	Polydactyly	51	ACOX1	ORPHA:2971
HP:0010442	Polydactyly	2187	FANCB	OMIM:314390
HP:0010442	Polydactyly	7547	ZIC3	OMIM:314390
HP:0010442	Polydactyly	641	BLM	OMIM:210900
HP:0010442	Polydactyly	2314	FLII	ORPHA:819
HP:0010442	Polydactyly	23096	IQSEC2	ORPHA:819
HP:0010442	Polydactyly	10743	RAI1	ORPHA:819
HP:0010442	Polydactyly	10522	DEAF1	ORPHA:819
HP:0010442	Polydactyly	9897	WASHC5	ORPHA:7
HP:0010442	Polydactyly	28952	CCDC22	ORPHA:7
HP:0010442	Polydactyly	25970	SH2B1	ORPHA:261197
HP:0010442	Polydactyly	5728	PTEN	ORPHA:65285
HP:0010442	Polydactyly	55636	CHD7	OMIM:214800
HP:0010442	Polydactyly	2313	FLI1	ORPHA:2308
HP:0010442	Polydactyly	6309	SC5D	ORPHA:46059
HP:0010442	Polydactyly	6309	SC5D	OMIM:607330
HP:0010442	Polydactyly	894	CCND2	ORPHA:83473
HP:0010442	Polydactyly	894	CCND2	OMIM:615938
HP:0010442	Polydactyly	10000	AKT3	ORPHA:83473
HP:0010442	Polydactyly	10000	AKT3	OMIM:615937
HP:0010442	Polydactyly	55593	OTUD5	OMIM:301056
HP:0010442	Polydactyly	1717	DHCR7	ORPHA:818
HP:0010442	Polydactyly	1717	DHCR7	OMIM:270400
HP:0010442	Polydactyly	10225	CD96	OMIM:211750
HP:0010442	Polydactyly	6926	TBX3	ORPHA:3138
HP:0010442	Polydactyly	6926	TBX3	OMIM:181450
HP:0010442	Polydactyly	7476	WNT7A	OMIM:228930
HP:0010442	Polydactyly	3209	HOXA13	ORPHA:2438
HP:0010442	Polydactyly	3209	HOXA13	OMIM:176305
HP:0010442	Polydactyly	64093	SMOC1	ORPHA:1106
HP:0010442	Polydactyly	64093	SMOC1	OMIM:206920
HP:0010442	Polydactyly	8200	GDF5	OMIM:113100
HP:0010442	Polydactyly	8200	GDF5	OMIM:200700
HP:0010442	Polydactyly	8200	GDF5	ORPHA:2098
HP:0010442	Polydactyly	26040	SETBP1	OMIM:269150
HP:0010442	Polydactyly	9742	IFT140	ORPHA:474
HP:0010442	Polydactyly	9742	IFT140	OMIM:266920
HP:0010442	Polydactyly	92482	BBIP1	ORPHA:110
HP:0010442	Polydactyly	49855	SCAPER	ORPHA:110
HP:0010442	Polydactyly	4867	NPHP1	ORPHA:110
HP:0010442	Polydactyly	84984	CEP19	ORPHA:110
HP:0010442	Polydactyly	79005	SCNM1	OMIM:620107
HP:0010442	Polydactyly	658	BMPR1B	ORPHA:2098
HP:0010442	Polydactyly	54499	TMCO1	OMIM:213980
HP:0010442	Polydactyly	51360	MBTPS2	OMIM:308205
HP:0010442	Polydactyly	51360	MBTPS2	ORPHA:85284
HP:0010442	Polydactyly	257	ALX3	OMIM:136760
HP:0010442	Polydactyly	23288	IQCE	OMIM:617642
HP:0010442	Polydactyly	137392	CIBAR1	OMIM:618219
HP:0010442	Polydactyly	7700	ZNF141	OMIM:615226
HP:0010442	Polydactyly	7046	TGFBR1	OMIM:609192
HP:0010442	Polydactyly	255758	DYNLT2B	OMIM:617405
HP:0010442	Polydactyly	57167	SALL4	ORPHA:233
HP:0010442	Polydactyly	57167	SALL4	ORPHA:959
HP:0010442	Polydactyly	57167	SALL4	ORPHA:2307
HP:0010442	Polydactyly	9935	MAFB	ORPHA:233
HP:0010442	Polydactyly	1123	CHN1	ORPHA:233
HP:0010442	Polydactyly	2137	EXTL3	ORPHA:508533
HP:0010442	Polydactyly	22827	PUF60	ORPHA:508498
HP:0010442	Polydactyly	65250	CPLANE1	OMIM:277170
HP:0010442	Polydactyly	6608	SMO	OMIM:601707
HP:0010442	Polydactyly	6608	SMO	ORPHA:1553
HP:0010442	Polydactyly	4750	NEK1	OMIM:263520
HP:0010442	Polydactyly	2737	GLI3	OMIM:175700
HP:0010442	Polydactyly	2737	GLI3	ORPHA:380
HP:0010442	Polydactyly	2737	GLI3	OMIM:174200
HP:0010442	Polydactyly	64327	LMBR1	ORPHA:2378
HP:0010442	Polydactyly	64327	LMBR1	OMIM:174500
HP:0010442	Polydactyly	55027	HEATR3	OMIM:620072
HP:0010442	Polydactyly	6299	SALL1	OMIM:107480
HP:0010442	Polydactyly	6299	SALL1	ORPHA:857
HP:0010442	Polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0010442	Polydactyly	57560	IFT80	ORPHA:93271
HP:0010442	Polydactyly	57539	WDR35	ORPHA:93271
HP:0010442	Polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0010442	Polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0010442	Polydactyly	374879	ZNF699	OMIM:619488
HP:0010442	Polydactyly	374654	KIF7	OMIM:200990
HP:0010442	Polydactyly	8318	CDC45	OMIM:617063
HP:0010442	Polydactyly	51339	DACT1	ORPHA:857
HP:0010442	Polydactyly	2177	FANCD2	OMIM:227646
HP:0010442	Polydactyly	727857	BHLHA9	ORPHA:3329
HP:0010442	Polydactyly	23133	PHF8	ORPHA:85287
HP:0010442	Polydactyly	8481	OFD1	ORPHA:2750
HP:0010442	Polydactyly	219844	HYLS1	OMIM:236680
HP:0010442	Polydactyly	26123	TCTN3	ORPHA:2753
HP:0010442	Polydactyly	26123	TCTN3	ORPHA:564
HP:0010442	Polydactyly	2697	GJA1	ORPHA:2710
HP:0010442	Polydactyly	3239	HOXD13	ORPHA:887
HP:0010442	Polydactyly	7020	TFAP2A	OMIM:113620
HP:0010442	Polydactyly	7020	TFAP2A	ORPHA:1297
HP:0010442	Polydactyly	84314	TMEM107	ORPHA:564
HP:0010442	Polydactyly	79867	TCTN2	ORPHA:564
HP:0010442	Polydactyly	80776	B9D2	ORPHA:564
HP:0010442	Polydactyly	79600	TCTN1	ORPHA:564
HP:0010442	Polydactyly	57096	RPGRIP1	ORPHA:564
HP:0010442	Polydactyly	79848	CSPP1	ORPHA:564
HP:0010442	Polydactyly	80184	CEP290	ORPHA:564
HP:0010442	Polydactyly	51259	TMEM216	ORPHA:564
HP:0010442	Polydactyly	57545	CC2D2A	ORPHA:564
HP:0010442	Polydactyly	79583	TMEM231	ORPHA:564
HP:0010442	Polydactyly	91147	TMEM67	ORPHA:564
HP:0010442	Polydactyly	79770	TXNDC15	ORPHA:564
HP:0010442	Polydactyly	27077	B9D1	ORPHA:564
HP:0010442	Polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0010442	Polydactyly	54903	MKS1	ORPHA:564
HP:0010442	Polydactyly	65062	TMEM237	ORPHA:564
HP:0010442	Polydactyly	10815	CPLX1	ORPHA:280
HP:0010442	Polydactyly	10815	CPLX1	OMIM:194190
HP:0010442	Polydactyly	54872	PIGG	ORPHA:280
HP:0010442	Polydactyly	7469	NELFA	ORPHA:280
HP:0010442	Polydactyly	1487	CTBP1	ORPHA:280
HP:0010442	Polydactyly	1487	CTBP1	OMIM:194190
HP:0010442	Polydactyly	3954	LETM1	ORPHA:280
HP:0010442	Polydactyly	3954	LETM1	OMIM:194190
HP:0010442	Polydactyly	7468	NSD2	ORPHA:280
HP:0010442	Polydactyly	7468	NSD2	OMIM:194190
HP:0010442	Polydactyly	2735	GLI1	OMIM:174400
HP:0010442	Polydactyly	53834	FGFRL1	OMIM:194190
HP:0010442	Polydactyly	9343	EFTUD2	OMIM:610536
HP:0010442	Polydactyly	9343	EFTUD2	ORPHA:79113
HP:0010442	Polydactyly	2263	FGFR2	OMIM:101200
HP:0010442	Polydactyly	51684	SUFU	ORPHA:475
HP:0010442	Polydactyly	54806	AHI1	ORPHA:475
HP:0010442	Polydactyly	54806	AHI1	ORPHA:220493
HP:0010442	Polydactyly	200894	ARL13B	ORPHA:475
HP:0010442	Polydactyly	9731	CEP104	ORPHA:475
HP:0010442	Polydactyly	23247	KATNIP	ORPHA:475
HP:0010442	Polydactyly	56623	INPP5E	ORPHA:475
HP:0010442	Polydactyly	56623	INPP5E	ORPHA:220493
HP:0010442	Polydactyly	10464	PIBF1	ORPHA:475
HP:0010442	Polydactyly	80210	ARMC9	ORPHA:475
HP:0010442	Polydactyly	25776	CBY1	ORPHA:475
HP:0010442	Polydactyly	403	ARL3	ORPHA:475
HP:0010442	Polydactyly	64840	PORCN	OMIM:305600
HP:0010442	Polydactyly	5590	PRKCZ	ORPHA:1606
HP:0010442	Polydactyly	2563	GABRD	ORPHA:1606
HP:0010442	Polydactyly	23013	SPEN	ORPHA:1606
HP:0010442	Polydactyly	8510	MMP23B	ORPHA:1606
HP:0010442	Polydactyly	7798	LUZP1	ORPHA:1606
HP:0010442	Polydactyly	6497	SKI	ORPHA:1606
HP:0010442	Polydactyly	10630	PDPN	ORPHA:1606
HP:0010442	Polydactyly	3339	HSPG2	ORPHA:1606
HP:0010442	Polydactyly	10277	UBE4B	ORPHA:1606
HP:0010442	Polydactyly	8514	KCNAB2	ORPHA:1606
HP:0010442	Polydactyly	473	RERE	ORPHA:1606
HP:0010442	Polydactyly	63976	PRDM16	ORPHA:1606
HP:0010442	Polydactyly	54897	CASZ1	ORPHA:1606
HP:0010442	Polydactyly	1312	COMT	ORPHA:567
HP:0010442	Polydactyly	221037	JMJD1C	ORPHA:567
HP:0010442	Polydactyly	2812	GP1BB	ORPHA:567
HP:0010442	Polydactyly	6239	RREB1	ORPHA:567
HP:0010442	Polydactyly	7290	HIRA	ORPHA:567
HP:0010442	Polydactyly	9632	SEC24C	ORPHA:567
HP:0010442	Polydactyly	7353	UFD1	ORPHA:567
HP:0010442	Polydactyly	421	ARVCF	ORPHA:567
HP:0010442	Polydactyly	23090	ZNF423	ORPHA:2318
HP:0010442	Polydactyly	5567	PRKACB	ORPHA:289
HP:0010442	Polydactyly	2121	EVC	ORPHA:289
HP:0010442	Polydactyly	132884	EVC2	ORPHA:289
HP:0010442	Polydactyly	6469	SHH	ORPHA:93405
HP:0010442	Polydactyly	26154	ABCA12	ORPHA:457
HP:0010442	Polydactyly	27031	NPHP3	OMIM:267010
HP:0010442	Polydactyly	26160	IFT172	OMIM:619471
HP:0010442	Polydactyly	285600	KIAA0825	OMIM:618498
HP:0010442	Polydactyly	51057	WDPCP	OMIM:217085
HP:0010442	Polydactyly	7021	TFAP2B	ORPHA:46627
HP:0010442	Polydactyly	8195	MKKS	OMIM:236700
HP:0010442	Polydactyly	51776	MAP3K20	OMIM:616890
HP:0010442	Polydactyly	317662	FAM149B1	OMIM:618763
HP:0010442	Polydactyly	7291	TWIST1	OMIM:101400
HP:0010442	Polydactyly	22856	CHSY1	ORPHA:363417
HP:0010442	Polydactyly	2702	GJA5	OMIM:612474
HP:0010442	Polydactyly	2703	GJA8	OMIM:612474
HP:0010442	Polydactyly	8820	HESX1	OMIM:182230
HP:0010442	Polydactyly	8820	HESX1	ORPHA:95494
HP:0010442	Polydactyly	23394	ADNP	ORPHA:404448
HP:0010442	Polydactyly	23394	ADNP	OMIM:615873
HP:0010442	Polydactyly	1859	DYRK1A	ORPHA:268261
HP:0010442	Polydactyly	583	BBS2	OMIM:616562
HP:0010442	Polydactyly	1387	CREBBP	OMIM:180849
HP:0010442	Polydactyly	1387	CREBBP	ORPHA:353277
HP:0010442	Polydactyly	2033	EP300	OMIM:180849
HP:0010442	Polydactyly	2033	EP300	ORPHA:353284
HP:0010442	Polydactyly	10806	SDCCAG8	OMIM:615993
HP:0010442	Polydactyly	54585	LZTFL1	OMIM:615994
HP:0010442	Polydactyly	51524	TMEM138	OMIM:614465
HP:0010442	Polydactyly	79809	TTC21B	OMIM:613819
HP:0010442	Polydactyly	10682	EBP	OMIM:300960
HP:0010442	Polydactyly	3481	IGF2	ORPHA:231140
HP:0010442	Polydactyly	3481	IGF2	ORPHA:397590
HP:0010442	Polydactyly	283120	H19	ORPHA:231140
HP:0010442	Polydactyly	9786	KIAA0586	OMIM:616490
HP:0010442	Polydactyly	5626	PROP1	ORPHA:95494
HP:0010442	Polydactyly	2736	GLI2	ORPHA:95494
HP:0010442	Polydactyly	89884	LHX4	ORPHA:95494
HP:0010442	Polydactyly	3170	FOXA2	ORPHA:95494
HP:0010442	Polydactyly	5449	POU1F1	ORPHA:95494
HP:0010442	Polydactyly	5015	OTX2	ORPHA:95494
HP:0010442	Polydactyly	5290	PIK3CA	OMIM:602501
HP:0010442	Polydactyly	55617	TASP1	OMIM:618950
HP:0010442	Polydactyly	123016	TTC8	OMIM:613464
HP:0010442	Polydactyly	1028	CDKN1C	ORPHA:397590
HP:0010442	Polydactyly	5324	PLAG1	ORPHA:397590
HP:0010442	Polydactyly	8091	HMGA2	ORPHA:397590
HP:0010442	Polydactyly	57688	ZSWIM6	OMIM:603671
HP:0010442	Polydactyly	10735	STAG2	OMIM:301022
HP:0010442	Polydactyly	79989	IFT56	OMIM:619534
HP:0010442	Polydactyly	3899	AFF3	OMIM:619297
HP:0010442	Polydactyly	57728	WDR19	OMIM:616307
HP:0010442	Polydactyly	3930	LBR	OMIM:169400
HP:0010442	Polydactyly	22897	CEP164	OMIM:614845
HP:0010442	Polydactyly	80173	IFT74	OMIM:617119
HP:0010442	Polydactyly	3643	INSR	ORPHA:769
HP:0010442	Polydactyly	26146	TRAF3IP1	OMIM:616629
HP:0010442	Polydactyly	7840	ALMS1	OMIM:203800
HP:0010442	Polydactyly	5727	PTCH1	ORPHA:77301
HP:0010442	Polydactyly	5727	PTCH1	OMIM:109400
HP:0010442	Polydactyly	10908	PNPLA6	OMIM:245800
HP:0010442	Polydactyly	652	BMP4	OMIM:607932
HP:0010442	Polydactyly	8802	SUCLG1	ORPHA:17
HP:0010442	Polydactyly	55212	BBS7	OMIM:615984
HP:0010442	Polydactyly	8550	MAPKAPK5	OMIM:619869
HP:0010442	Polydactyly	585	BBS4	OMIM:615982
HP:0010442	Polydactyly	129880	BBS5	OMIM:615983
HP:0010442	Polydactyly	22954	TRIM32	OMIM:615988
HP:0010442	Polydactyly	2192	FBLN1	OMIM:608180
HP:0010442	Polydactyly	166379	BBS12	OMIM:615989
HP:0010442	Polydactyly	27241	BBS9	OMIM:615986
HP:0010442	Polydactyly	83879	CDCA7	OMIM:616910
HP:0010442	Polydactyly	51715	RAB23	ORPHA:65759
HP:0010442	Polydactyly	1954	MEGF8	ORPHA:65759
HP:0010442	Polydactyly	79738	BBS10	OMIM:615987
HP:0010442	Polydactyly	161742	SPRED1	ORPHA:137605
HP:0010442	Polydactyly	27152	INTU	OMIM:617926
HP:0010442	Polydactyly	5813	PURA	ORPHA:314655
HP:0010442	Polydactyly	4758	NEU1	ORPHA:93400
HP:0010442	Polydactyly	5307	PITX1	OMIM:119800
HP:0010442	Polydactyly	10584	COLEC10	OMIM:248340
HP:0010442	Polydactyly	100151683	RNU4ATAC	OMIM:210710
HP:0010442	Polydactyly	95681	CEP41	OMIM:614464
HP:0010442	Polydactyly	91754	NEK9	ORPHA:64754
HP:0010442	Polydactyly	1063	CENPF	OMIM:243605
HP:0010442	Polydactyly	26047	CNTNAP2	ORPHA:163681
HP:0010442	Polydactyly	26005	C2CD3	OMIM:615948
HP:0010442	Polydactyly	2316	FLNA	ORPHA:90652
HP:0010442	Polydactyly	5518	PPP2R1A	OMIM:616362
HP:0010442	Polydactyly	5518	PPP2R1A	ORPHA:457284
HP:0010442	Polydactyly	392255	GDF6	OMIM:613094
HP:0010442	Polydactyly	28981	IFT81	OMIM:617895
HP:0010442	Polydactyly	54892	NCAPG2	OMIM:618460
HP:0010442	Polydactyly	348180	CTU2	OMIM:618142
HP:0010442	Polydactyly	11020	IFT27	OMIM:615996
HP:0010442	Polydactyly	157657	CFAP418	OMIM:614500
HP:0010442	Polydactyly	8239	USP9X	ORPHA:480880
HP:0010442	Polydactyly	8239	USP9X	OMIM:300968
HP:0010442	Polydactyly	55209	SETD5	ORPHA:404440
HP:0010442	Polydactyly	55209	SETD5	OMIM:615761
HP:0010442	Polydactyly	3190	HNRNPK	ORPHA:453504
HP:0010442	Polydactyly	3190	HNRNPK	OMIM:616580
HP:0010442	Polydactyly	3190	HNRNPK	ORPHA:352665
HP:0010442	Polydactyly	3021	H3-3B	OMIM:619721
HP:0010442	Polydactyly	51098	IFT52	OMIM:617102
HP:0010442	Polydactyly	219854	TMEM218	OMIM:619562
HP:0010442	Polydactyly	112752	IFT43	OMIM:617866
HP:0010442	Polydactyly	112752	IFT43	OMIM:614099
HP:0010442	Polydactyly	83479	DDX59	OMIM:174300
HP:0010442	Polydactyly	22858	CILK1	OMIM:612651
HP:0010442	Polydactyly	9371	KIF3B	OMIM:618955
HP:0010442	Polydactyly	137814	NKX2-6	OMIM:217095
HP:0010442	Polydactyly	1482	NKX2-5	OMIM:217095
HP:0010442	Polydactyly	6899	TBX1	OMIM:217095
HP:0010442	Polydactyly	2627	GATA6	OMIM:217095
HP:0010442	Polydactyly	5932	RBBP8	OMIM:251255
HP:0010442	Polydactyly	8241	RBM10	ORPHA:2886
HP:0010442	Polydactyly	8241	RBM10	OMIM:311900
HP:0010442	Polydactyly	5296	PIK3R2	OMIM:603387
HP:0010442	Polydactyly	50515	CHST11	OMIM:618167
HP:0010442	Polydactyly	153241	CEP120	OMIM:616300
HP:0010442	Polydactyly	8831	SYNGAP1	ORPHA:544254
HP:0010442	Polydactyly	7048	TGFBR2	OMIM:610168
HP:0010442	Polydactyly	84100	ARL6	OMIM:209900
HP:0010442	Polydactyly	84100	ARL6	OMIM:600151
HP:0010442	Polydactyly	79140	CCDC28B	OMIM:209900
HP:0010442	Polydactyly	582	BBS1	OMIM:209900
HP:0010442	Polydactyly	286204	CRB2	OMIM:219730
HP:0010442	Polydactyly	23116	TOGARAM1	OMIM:619185
HP:0010442	Polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0010442	Polydactyly	5566	PRKACA	OMIM:619142
HP:0010442	Polydactyly	57511	COG6	OMIM:614576
HP:0010442	Polydactyly	84300	UQCC2	OMIM:615824
HP:0010442	Polydactyly	9373	PLAA	OMIM:617527
HP:0010442	Polydactyly	2719	GPC3	OMIM:312870
HP:0010442	Polydactyly	2239	GPC4	OMIM:312870
HP:0010442	Polydactyly	55081	IFT57	OMIM:617927
HP:0010442	Polydactyly	10210	TOPORS	ORPHA:2754
HP:0010442	Polydactyly	9851	KIAA0753	ORPHA:2754
HP:0010442	Polydactyly	5147	PDE6D	ORPHA:2754
HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	2121	EVC	OMIM:225500
HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	132884	EVC2	OMIM:225500
HP:0009179	Deviation of the 5th finger	11253	MAN1B1	ORPHA:397941
HP:0009179	Deviation of the 5th finger	11253	MAN1B1	OMIM:614202
HP:0009179	Deviation of the 5th finger	340533	NEXMIF	OMIM:300912
HP:0009179	Deviation of the 5th finger	1139	CHRNA7	ORPHA:199318
HP:0009179	Deviation of the 5th finger	1139	CHRNA7	OMIM:612001
HP:0009179	Deviation of the 5th finger	2132	EXT2	OMIM:616682
HP:0009179	Deviation of the 5th finger	23135	KDM6B	OMIM:618505
HP:0009179	Deviation of the 5th finger	6659	SOX4	OMIM:618506
HP:0009179	Deviation of the 5th finger	1947	EFNB1	ORPHA:1520
HP:0009179	Deviation of the 5th finger	1947	EFNB1	OMIM:304110
HP:0009179	Deviation of the 5th finger	4010	LMX1B	ORPHA:2614
HP:0009179	Deviation of the 5th finger	4010	LMX1B	OMIM:161200
HP:0009179	Deviation of the 5th finger	10054	UBA2	OMIM:619959
HP:0009179	Deviation of the 5th finger	51126	NAA20	OMIM:619717
HP:0009179	Deviation of the 5th finger	2972	BRF1	OMIM:616202
HP:0009179	Deviation of the 5th finger	2263	FGFR2	OMIM:149730
HP:0009179	Deviation of the 5th finger	2263	FGFR2	OMIM:101400
HP:0009179	Deviation of the 5th finger	2263	FGFR2	ORPHA:794
HP:0009179	Deviation of the 5th finger	9820	CUL7	ORPHA:2616
HP:0009179	Deviation of the 5th finger	9820	CUL7	OMIM:273750
HP:0009179	Deviation of the 5th finger	23363	OBSL1	ORPHA:2616
HP:0009179	Deviation of the 5th finger	83987	CCDC8	ORPHA:2616
HP:0009179	Deviation of the 5th finger	83987	CCDC8	OMIM:614205
HP:0009179	Deviation of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0009179	Deviation of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0009179	Deviation of the 5th finger	7021	TFAP2B	OMIM:617035
HP:0009179	Deviation of the 5th finger	3481	IGF2	ORPHA:231140
HP:0009179	Deviation of the 5th finger	3481	IGF2	ORPHA:231144
HP:0009179	Deviation of the 5th finger	3481	IGF2	OMIM:616489
HP:0009179	Deviation of the 5th finger	3481	IGF2	OMIM:180860
HP:0009179	Deviation of the 5th finger	3481	IGF2	ORPHA:397590
HP:0009179	Deviation of the 5th finger	283120	H19	ORPHA:231140
HP:0009179	Deviation of the 5th finger	283120	H19	ORPHA:231144
HP:0009179	Deviation of the 5th finger	197131	UBR1	OMIM:243800
HP:0009179	Deviation of the 5th finger	5932	RBBP8	OMIM:606744
HP:0009179	Deviation of the 5th finger	5932	RBBP8	ORPHA:808
HP:0009179	Deviation of the 5th finger	3021	H3-3B	OMIM:619721
HP:0009179	Deviation of the 5th finger	126792	B3GALT6	ORPHA:2725
HP:0009179	Deviation of the 5th finger	4286	MITF	OMIM:617306
HP:0009179	Deviation of the 5th finger	23384	SPECC1L	ORPHA:1519
HP:0009179	Deviation of the 5th finger	57539	WDR35	ORPHA:1515
HP:0009179	Deviation of the 5th finger	112752	IFT43	ORPHA:1515
HP:0009179	Deviation of the 5th finger	51098	IFT52	ORPHA:1515
HP:0009179	Deviation of the 5th finger	55764	IFT122	ORPHA:1515
HP:0009179	Deviation of the 5th finger	57728	WDR19	ORPHA:1515
HP:0009179	Deviation of the 5th finger	55636	CHD7	ORPHA:138
HP:0009179	Deviation of the 5th finger	9723	SEMA3E	ORPHA:138
HP:0009179	Deviation of the 5th finger	90	ACVR1	OMIM:135100
HP:0009179	Deviation of the 5th finger	90	ACVR1	ORPHA:337
HP:0009179	Deviation of the 5th finger	3190	HNRNPK	OMIM:616580
HP:0009179	Deviation of the 5th finger	54880	BCOR	ORPHA:2712
HP:0009179	Deviation of the 5th finger	54880	BCOR	ORPHA:568
HP:0009179	Deviation of the 5th finger	10606	PAICS	OMIM:619859
HP:0009179	Deviation of the 5th finger	1009	CDH11	OMIM:619736
HP:0009179	Deviation of the 5th finger	64359	NXN	ORPHA:1507
HP:0009179	Deviation of the 5th finger	4920	ROR2	ORPHA:1507
HP:0009179	Deviation of the 5th finger	2697	GJA1	ORPHA:2710
HP:0009179	Deviation of the 5th finger	7020	TFAP2A	OMIM:113620
HP:0009179	Deviation of the 5th finger	727857	BHLHA9	ORPHA:157801
HP:0009179	Deviation of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0009179	Deviation of the 5th finger	652	BMP4	OMIM:607932
HP:0009179	Deviation of the 5th finger	4297	KMT2A	ORPHA:319182
HP:0009179	Deviation of the 5th finger	4297	KMT2A	OMIM:605130
HP:0009179	Deviation of the 5th finger	1301	COL11A1	OMIM:228520
HP:0009179	Deviation of the 5th finger	1301	COL11A1	OMIM:154780
HP:0009179	Deviation of the 5th finger	23327	NEDD4L	OMIM:617201
HP:0009179	Deviation of the 5th finger	7291	TWIST1	OMIM:101400
HP:0009179	Deviation of the 5th finger	7291	TWIST1	ORPHA:794
HP:0009179	Deviation of the 5th finger	2783	GNB2	OMIM:619503
HP:0009179	Deviation of the 5th finger	3981	LIG4	ORPHA:235
HP:0009179	Deviation of the 5th finger	3981	LIG4	ORPHA:99812
HP:0009179	Deviation of the 5th finger	3981	LIG4	OMIM:606593
HP:0009179	Deviation of the 5th finger	54888	NSUN2	ORPHA:235
HP:0009179	Deviation of the 5th finger	1182	CLCN3	OMIM:619512
HP:0009179	Deviation of the 5th finger	85301	COL27A1	OMIM:615155
HP:0009179	Deviation of the 5th finger	5048	PAFAH1B1	ORPHA:217385
HP:0009179	Deviation of the 5th finger	5048	PAFAH1B1	ORPHA:531
HP:0009179	Deviation of the 5th finger	7531	YWHAE	ORPHA:217385
HP:0009179	Deviation of the 5th finger	7531	YWHAE	ORPHA:531
HP:0009179	Deviation of the 5th finger	2121	EVC	OMIM:193530
HP:0009179	Deviation of the 5th finger	2121	EVC	ORPHA:952
HP:0009179	Deviation of the 5th finger	132884	EVC2	OMIM:193530
HP:0009179	Deviation of the 5th finger	132884	EVC2	ORPHA:952
HP:0009179	Deviation of the 5th finger	8364	H4C3	OMIM:619758
HP:0009179	Deviation of the 5th finger	5590	PRKCZ	ORPHA:1606
HP:0009179	Deviation of the 5th finger	2563	GABRD	ORPHA:1606
HP:0009179	Deviation of the 5th finger	23013	SPEN	ORPHA:1606
HP:0009179	Deviation of the 5th finger	8510	MMP23B	ORPHA:1606
HP:0009179	Deviation of the 5th finger	7798	LUZP1	ORPHA:1606
HP:0009179	Deviation of the 5th finger	6497	SKI	ORPHA:1606
HP:0009179	Deviation of the 5th finger	10630	PDPN	ORPHA:1606
HP:0009179	Deviation of the 5th finger	3339	HSPG2	ORPHA:1606
HP:0009179	Deviation of the 5th finger	10277	UBE4B	ORPHA:1606
HP:0009179	Deviation of the 5th finger	8514	KCNAB2	ORPHA:1606
HP:0009179	Deviation of the 5th finger	473	RERE	ORPHA:1606
HP:0009179	Deviation of the 5th finger	473	RERE	OMIM:616975
HP:0009179	Deviation of the 5th finger	63976	PRDM16	ORPHA:1606
HP:0009179	Deviation of the 5th finger	54897	CASZ1	ORPHA:1606
HP:0009179	Deviation of the 5th finger	6134	RPL10	ORPHA:459070
HP:0009179	Deviation of the 5th finger	6134	RPL10	OMIM:300998
HP:0009179	Deviation of the 5th finger	7750	ZMYM2	OMIM:619522
HP:0009179	Deviation of the 5th finger	4849	CNOT3	OMIM:618672
HP:0009179	Deviation of the 5th finger	6942	TCF20	OMIM:618430
HP:0009179	Deviation of the 5th finger	641	BLM	OMIM:210900
HP:0009179	Deviation of the 5th finger	57492	ARID1B	ORPHA:251056
HP:0009179	Deviation of the 5th finger	57492	ARID1B	OMIM:135900
HP:0009179	Deviation of the 5th finger	63895	PIEZO2	ORPHA:376
HP:0009179	Deviation of the 5th finger	23314	SATB2	ORPHA:576283
HP:0009179	Deviation of the 5th finger	23314	SATB2	ORPHA:251028
HP:0009179	Deviation of the 5th finger	23314	SATB2	ORPHA:251019
HP:0009179	Deviation of the 5th finger	2239	GPC4	ORPHA:373
HP:0009179	Deviation of the 5th finger	2239	GPC4	ORPHA:2662
HP:0009179	Deviation of the 5th finger	2719	GPC3	ORPHA:373
HP:0009179	Deviation of the 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0009179	Deviation of the 5th finger	8200	GDF5	OMIM:615298
HP:0009179	Deviation of the 5th finger	8200	GDF5	OMIM:112600
HP:0009179	Deviation of the 5th finger	8200	GDF5	ORPHA:93396
HP:0009179	Deviation of the 5th finger	8200	GDF5	ORPHA:3250
HP:0009179	Deviation of the 5th finger	8200	GDF5	ORPHA:93384
HP:0009179	Deviation of the 5th finger	8200	GDF5	ORPHA:93388
HP:0009179	Deviation of the 5th finger	8200	GDF5	OMIM:113100
HP:0009179	Deviation of the 5th finger	23483	TGDS	OMIM:616145
HP:0009179	Deviation of the 5th finger	23483	TGDS	ORPHA:1388
HP:0009179	Deviation of the 5th finger	57479	PRR12	OMIM:619539
HP:0009179	Deviation of the 5th finger	25836	NIPBL	OMIM:122470
HP:0009179	Deviation of the 5th finger	25836	NIPBL	ORPHA:199
HP:0009179	Deviation of the 5th finger	2317	FLNB	OMIM:272460
HP:0009179	Deviation of the 5th finger	79087	ALG12	ORPHA:79324
HP:0009179	Deviation of the 5th finger	6473	SHOX	ORPHA:240
HP:0009179	Deviation of the 5th finger	1387	CREBBP	OMIM:618332
HP:0009179	Deviation of the 5th finger	1387	CREBBP	OMIM:180849
HP:0009179	Deviation of the 5th finger	26100	WIPI2	OMIM:618453
HP:0009179	Deviation of the 5th finger	10533	ATG7	OMIM:619422
HP:0009179	Deviation of the 5th finger	8295	TRRAP	OMIM:618454
HP:0009179	Deviation of the 5th finger	9742	IFT140	OMIM:266920
HP:0009179	Deviation of the 5th finger	7227	TRPS1	ORPHA:77258
HP:0009179	Deviation of the 5th finger	2261	FGFR3	ORPHA:794
HP:0009179	Deviation of the 5th finger	9949	AMMECR1	OMIM:300990
HP:0009179	Deviation of the 5th finger	3479	IGF1	ORPHA:73272
HP:0009179	Deviation of the 5th finger	3479	IGF1	OMIM:608747
HP:0009179	Deviation of the 5th finger	658	BMPR1B	OMIM:112600
HP:0009179	Deviation of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0009179	Deviation of the 5th finger	658	BMPR1B	ORPHA:93384
HP:0009179	Deviation of the 5th finger	658	BMPR1B	ORPHA:93388
HP:0009179	Deviation of the 5th finger	658	BMPR1B	OMIM:616849
HP:0009179	Deviation of the 5th finger	650	BMP2	OMIM:112600
HP:0009179	Deviation of the 5th finger	650	BMP2	ORPHA:93396
HP:0009179	Deviation of the 5th finger	650	BMP2	OMIM:617877
HP:0009179	Deviation of the 5th finger	22827	PUF60	ORPHA:508498
HP:0009179	Deviation of the 5th finger	22827	PUF60	ORPHA:508488
HP:0009179	Deviation of the 5th finger	6477	SIAH1	OMIM:619314
HP:0009179	Deviation of the 5th finger	8473	OGT	OMIM:300997
HP:0009179	Deviation of the 5th finger	10785	WDR4	OMIM:618347
HP:0009179	Deviation of the 5th finger	1798	DPAGT1	OMIM:608093
HP:0009179	Deviation of the 5th finger	100151683	RNU4ATAC	ORPHA:353298
HP:0009179	Deviation of the 5th finger	100151683	RNU4ATAC	OMIM:226960
HP:0009179	Deviation of the 5th finger	100151683	RNU4ATAC	OMIM:616651
HP:0009179	Deviation of the 5th finger	100151683	RNU4ATAC	ORPHA:2636
HP:0009179	Deviation of the 5th finger	55869	HDAC8	OMIM:300882
HP:0009179	Deviation of the 5th finger	55869	HDAC8	ORPHA:199
HP:0009179	Deviation of the 5th finger	117581	TWIST2	OMIM:200110
HP:0009179	Deviation of the 5th finger	117581	TWIST2	OMIM:209885
HP:0009179	Deviation of the 5th finger	23030	KDM4B	OMIM:619320
HP:0009179	Deviation of the 5th finger	9126	SMC3	OMIM:610759
HP:0009179	Deviation of the 5th finger	9126	SMC3	ORPHA:199
HP:0009179	Deviation of the 5th finger	1725	DHPS	OMIM:618480
HP:0009179	Deviation of the 5th finger	55777	MBD5	OMIM:156200
HP:0009179	Deviation of the 5th finger	55777	MBD5	ORPHA:228402
HP:0009179	Deviation of the 5th finger	5980	REV3L	ORPHA:570
HP:0009179	Deviation of the 5th finger	23129	PLXND1	ORPHA:570
HP:0009179	Deviation of the 5th finger	4784	NFIX	OMIM:602535
HP:0009179	Deviation of the 5th finger	4998	ORC1	OMIM:224690
HP:0009179	Deviation of the 5th finger	4998	ORC1	ORPHA:2554
HP:0009179	Deviation of the 5th finger	4052	LTBP1	OMIM:619451
HP:0009179	Deviation of the 5th finger	8260	NAA10	OMIM:300855
HP:0009179	Deviation of the 5th finger	8260	NAA10	ORPHA:568
HP:0009179	Deviation of the 5th finger	7468	NSD2	OMIM:619695
HP:0009179	Deviation of the 5th finger	9496	TBX4	ORPHA:261279
HP:0009179	Deviation of the 5th finger	8091	HMGA2	ORPHA:94063
HP:0009179	Deviation of the 5th finger	8091	HMGA2	ORPHA:397590
HP:0009179	Deviation of the 5th finger	23592	LEMD3	ORPHA:94063
HP:0009179	Deviation of the 5th finger	164	AP1G1	OMIM:619467
HP:0009179	Deviation of the 5th finger	5283	PIGH	OMIM:618010
HP:0009179	Deviation of the 5th finger	50801	KCNK4	OMIM:618381
HP:0009179	Deviation of the 5th finger	9757	KMT2B	ORPHA:589618
HP:0009179	Deviation of the 5th finger	4613	MYCN	ORPHA:391641
HP:0009179	Deviation of the 5th finger	57003	CCDC47	OMIM:618268
HP:0009179	Deviation of the 5th finger	8812	CCNK	OMIM:618147
HP:0009179	Deviation of the 5th finger	5977	DPF2	OMIM:618027
HP:0009179	Deviation of the 5th finger	29895	MYL11	OMIM:619110
HP:0009179	Deviation of the 5th finger	94005	PIGS	OMIM:618143
HP:0009179	Deviation of the 5th finger	145173	B3GLCT	OMIM:261540
HP:0009179	Deviation of the 5th finger	145173	B3GLCT	ORPHA:709
HP:0009179	Deviation of the 5th finger	2033	EP300	OMIM:180849
HP:0009179	Deviation of the 5th finger	92002	CCNQ	OMIM:300707
HP:0009179	Deviation of the 5th finger	92002	CCNQ	ORPHA:140952
HP:0009179	Deviation of the 5th finger	285590	SH3PXD2B	ORPHA:137834
HP:0009179	Deviation of the 5th finger	80036	TRPM3	OMIM:620224
HP:0009179	Deviation of the 5th finger	526	ATP6V1B2	ORPHA:79500
HP:0009179	Deviation of the 5th finger	57465	TBC1D24	ORPHA:79500
HP:0009179	Deviation of the 5th finger	57465	TBC1D24	OMIM:220500
HP:0009179	Deviation of the 5th finger	5728	PTEN	ORPHA:744
HP:0009179	Deviation of the 5th finger	207	AKT1	ORPHA:744
HP:0009179	Deviation of the 5th finger	2887	GRB10	ORPHA:96182
HP:0009179	Deviation of the 5th finger	1457	CSNK2A1	OMIM:617062
HP:0009179	Deviation of the 5th finger	7204	TRIO	OMIM:617061
HP:0009179	Deviation of the 5th finger	7204	TRIO	ORPHA:476126
HP:0009179	Deviation of the 5th finger	51715	RAB23	OMIM:201000
HP:0009179	Deviation of the 5th finger	28952	CCDC22	OMIM:300963
HP:0009179	Deviation of the 5th finger	90416	CCDC32	OMIM:619123
HP:0009179	Deviation of the 5th finger	8450	CUL4B	ORPHA:85293
HP:0009179	Deviation of the 5th finger	55717	WDR11	OMIM:620237
HP:0009179	Deviation of the 5th finger	6299	SALL1	ORPHA:857
HP:0009179	Deviation of the 5th finger	51339	DACT1	ORPHA:857
HP:0009179	Deviation of the 5th finger	118924	FRA10AC1	OMIM:620113
HP:0009179	Deviation of the 5th finger	22995	CEP152	OMIM:613823
HP:0009179	Deviation of the 5th finger	22995	CEP152	ORPHA:808
HP:0009179	Deviation of the 5th finger	3549	IHH	OMIM:112500
HP:0009179	Deviation of the 5th finger	3549	IHH	ORPHA:93388
HP:0009179	Deviation of the 5th finger	3090	HIC1	ORPHA:531
HP:0009179	Deviation of the 5th finger	10436	EMG1	OMIM:211180
HP:0009179	Deviation of the 5th finger	10436	EMG1	ORPHA:1270
HP:0009179	Deviation of the 5th finger	23387	SIK3	OMIM:618162
HP:0009179	Deviation of the 5th finger	10084	PQBP1	OMIM:309500
HP:0009179	Deviation of the 5th finger	5745	PTH1R	OMIM:156400
HP:0009179	Deviation of the 5th finger	89970	RSPRY1	ORPHA:457395
HP:0009179	Deviation of the 5th finger	9487	PIGL	OMIM:280000
HP:0009179	Deviation of the 5th finger	22800	RRAS2	ORPHA:648
HP:0009179	Deviation of the 5th finger	867	CBL	ORPHA:648
HP:0009179	Deviation of the 5th finger	8216	LZTR1	ORPHA:648
HP:0009179	Deviation of the 5th finger	6016	RIT1	ORPHA:648
HP:0009179	Deviation of the 5th finger	6237	RRAS	ORPHA:648
HP:0009179	Deviation of the 5th finger	5894	RAF1	ORPHA:648
HP:0009179	Deviation of the 5th finger	22808	MRAS	ORPHA:648
HP:0009179	Deviation of the 5th finger	3845	KRAS	ORPHA:648
HP:0009179	Deviation of the 5th finger	200734	SPRED2	ORPHA:648
HP:0009179	Deviation of the 5th finger	4893	NRAS	ORPHA:648
HP:0009179	Deviation of the 5th finger	6654	SOS1	ORPHA:648
HP:0009179	Deviation of the 5th finger	6655	SOS2	ORPHA:648
HP:0009179	Deviation of the 5th finger	5781	PTPN11	ORPHA:648
HP:0009179	Deviation of the 5th finger	5922	RASA2	ORPHA:648
HP:0009179	Deviation of the 5th finger	23522	KAT6B	ORPHA:3047
HP:0009179	Deviation of the 5th finger	6913	TBX15	OMIM:260660
HP:0009179	Deviation of the 5th finger	79023	NUP37	OMIM:618179
HP:0009179	Deviation of the 5th finger	375056	MIA3	OMIM:619269
HP:0009179	Deviation of the 5th finger	27161	AGO2	OMIM:619149
HP:0009179	Deviation of the 5th finger	5567	PRKACB	OMIM:619143
HP:0009179	Deviation of the 5th finger	221927	BRAT1	OMIM:618056
HP:0009179	Deviation of the 5th finger	8823	FGF16	OMIM:309630
HP:0009179	Deviation of the 5th finger	161742	SPRED1	ORPHA:137605
HP:0009179	Deviation of the 5th finger	7337	UBE3A	ORPHA:238446
HP:0009179	Deviation of the 5th finger	1832	DSP	ORPHA:158687
HP:0009179	Deviation of the 5th finger	1832	DSP	OMIM:609638
HP:0009179	Deviation of the 5th finger	3728	JUP	ORPHA:158687
HP:0009179	Deviation of the 5th finger	23241	PACS2	OMIM:618067
HP:0009179	Deviation of the 5th finger	26128	KIFBP	OMIM:609460
HP:0009179	Deviation of the 5th finger	23556	PIGN	ORPHA:2059
HP:0009179	Deviation of the 5th finger	5885	RAD21	OMIM:614701
HP:0009179	Deviation of the 5th finger	5885	RAD21	ORPHA:199
HP:0009179	Deviation of the 5th finger	673	BRAF	OMIM:115150
HP:0009179	Deviation of the 5th finger	7518	XRCC4	ORPHA:99812
HP:0009179	Deviation of the 5th finger	3209	HOXA13	OMIM:140000
HP:0009179	Deviation of the 5th finger	3209	HOXA13	ORPHA:2438
HP:0009179	Deviation of the 5th finger	8854	ALDH1A2	OMIM:620025
HP:0009179	Deviation of the 5th finger	10274	STAG1	ORPHA:502434
HP:0009179	Deviation of the 5th finger	9241	NOG	ORPHA:3250
HP:0009179	Deviation of the 5th finger	9241	NOG	OMIM:186500
HP:0009179	Deviation of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009179	Deviation of the 5th finger	3239	HOXD13	ORPHA:93406
HP:0009179	Deviation of the 5th finger	374654	KIF7	OMIM:200990
HP:0009179	Deviation of the 5th finger	613	BCR	ORPHA:261330
HP:0009179	Deviation of the 5th finger	1399	CRKL	ORPHA:261330
HP:0009179	Deviation of the 5th finger	5594	MAPK1	ORPHA:261330
HP:0009179	Deviation of the 5th finger	89910	UBE3B	OMIM:244450
HP:0009179	Deviation of the 5th finger	2314	FLII	ORPHA:819
HP:0009179	Deviation of the 5th finger	23096	IQSEC2	ORPHA:819
HP:0009179	Deviation of the 5th finger	10743	RAI1	ORPHA:819
HP:0009179	Deviation of the 5th finger	10522	DEAF1	ORPHA:819
HP:0009179	Deviation of the 5th finger	150468	CKAP2L	ORPHA:3255
HP:0009179	Deviation of the 5th finger	6595	SMARCA2	OMIM:619293
HP:0009179	Deviation of the 5th finger	672	BRCA1	ORPHA:84
HP:0009179	Deviation of the 5th finger	10459	MAD2L2	ORPHA:84
HP:0009179	Deviation of the 5th finger	7516	XRCC2	ORPHA:84
HP:0009179	Deviation of the 5th finger	29089	UBE2T	ORPHA:84
HP:0009179	Deviation of the 5th finger	675	BRCA2	ORPHA:84
HP:0009179	Deviation of the 5th finger	55120	FANCL	ORPHA:84
HP:0009179	Deviation of the 5th finger	2177	FANCD2	ORPHA:84
HP:0009179	Deviation of the 5th finger	2175	FANCA	ORPHA:84
HP:0009179	Deviation of the 5th finger	2187	FANCB	ORPHA:84
HP:0009179	Deviation of the 5th finger	2176	FANCC	ORPHA:84
HP:0009179	Deviation of the 5th finger	2178	FANCE	ORPHA:84
HP:0009179	Deviation of the 5th finger	2188	FANCF	ORPHA:84
HP:0009179	Deviation of the 5th finger	2189	FANCG	ORPHA:84
HP:0009179	Deviation of the 5th finger	5888	RAD51	ORPHA:84
HP:0009179	Deviation of the 5th finger	5889	RAD51C	ORPHA:84
HP:0009179	Deviation of the 5th finger	55159	RFWD3	ORPHA:84
HP:0009179	Deviation of the 5th finger	83990	BRIP1	ORPHA:84
HP:0009179	Deviation of the 5th finger	57697	FANCM	ORPHA:84
HP:0009179	Deviation of the 5th finger	79728	PALB2	ORPHA:84
HP:0009179	Deviation of the 5th finger	84464	SLX4	ORPHA:84
HP:0009179	Deviation of the 5th finger	2072	ERCC4	ORPHA:84
HP:0009179	Deviation of the 5th finger	55215	FANCI	ORPHA:84
HP:0009179	Deviation of the 5th finger	546	ATRX	ORPHA:847
HP:0009179	Deviation of the 5th finger	84823	LMNB2	OMIM:619180
HP:0009179	Deviation of the 5th finger	9184	BUB3	ORPHA:1052
HP:0009179	Deviation of the 5th finger	699	BUB1	ORPHA:1052
HP:0009179	Deviation of the 5th finger	699	BUB1	OMIM:620183
HP:0009179	Deviation of the 5th finger	9702	CEP57	ORPHA:1052
HP:0009179	Deviation of the 5th finger	9702	CEP57	OMIM:614114
HP:0009179	Deviation of the 5th finger	9319	TRIP13	ORPHA:1052
HP:0009179	Deviation of the 5th finger	701	BUB1B	ORPHA:1052
HP:0009179	Deviation of the 5th finger	54476	RNF216	ORPHA:1173
HP:0009179	Deviation of the 5th finger	10908	PNPLA6	ORPHA:1173
HP:0009179	Deviation of the 5th finger	23036	ZNF292	OMIM:619188
HP:0009179	Deviation of the 5th finger	51199	NIN	OMIM:614851
HP:0009179	Deviation of the 5th finger	51199	NIN	ORPHA:319675
HP:0009179	Deviation of the 5th finger	1954	MEGF8	OMIM:614976
HP:0009179	Deviation of the 5th finger	25942	SIN3A	OMIM:613406
HP:0009179	Deviation of the 5th finger	4953	ODC1	OMIM:619075
HP:0009179	Deviation of the 5th finger	4953	ODC1	ORPHA:544488
HP:0009179	Deviation of the 5th finger	1857	DVL3	ORPHA:3107
HP:0009179	Deviation of the 5th finger	7474	WNT5A	ORPHA:3107
HP:0009179	Deviation of the 5th finger	1855	DVL1	ORPHA:3107
HP:0009179	Deviation of the 5th finger	2535	FZD2	ORPHA:3107
HP:0009179	Deviation of the 5th finger	2535	FZD2	OMIM:164745
HP:0009179	Deviation of the 5th finger	26053	AUTS2	OMIM:615834
HP:0009179	Deviation of the 5th finger	6804	STX1A	ORPHA:904
HP:0009179	Deviation of the 5th finger	7461	CLIP2	ORPHA:904
HP:0009179	Deviation of the 5th finger	84277	DNAJC30	ORPHA:904
HP:0009179	Deviation of the 5th finger	8468	FKBP6	ORPHA:904
HP:0009179	Deviation of the 5th finger	5982	RFC2	ORPHA:904
HP:0009179	Deviation of the 5th finger	2969	GTF2I	ORPHA:904
HP:0009179	Deviation of the 5th finger	3984	LIMK1	ORPHA:904
HP:0009179	Deviation of the 5th finger	9569	GTF2IRD1	ORPHA:904
HP:0009179	Deviation of the 5th finger	155382	VPS37D	ORPHA:904
HP:0009179	Deviation of the 5th finger	155368	METTL27	ORPHA:904
HP:0009179	Deviation of the 5th finger	114049	BUD23	ORPHA:904
HP:0009179	Deviation of the 5th finger	7458	EIF4H	ORPHA:904
HP:0009179	Deviation of the 5th finger	84163	GTF2IRD2	ORPHA:904
HP:0009179	Deviation of the 5th finger	9275	BCL7B	ORPHA:904
HP:0009179	Deviation of the 5th finger	26608	TBL2	ORPHA:904
HP:0009179	Deviation of the 5th finger	653361	NCF1	ORPHA:904
HP:0009179	Deviation of the 5th finger	135886	TMEM270	ORPHA:904
HP:0009179	Deviation of the 5th finger	51085	MLXIPL	ORPHA:904
HP:0009179	Deviation of the 5th finger	51085	MLXIPL	OMIM:194050
HP:0009179	Deviation of the 5th finger	9031	BAZ1B	ORPHA:904
HP:0009179	Deviation of the 5th finger	2006	ELN	ORPHA:904
HP:0009179	Deviation of the 5th finger	2006	ELN	OMIM:194050
HP:0009179	Deviation of the 5th finger	2122	MECOM	ORPHA:71289
HP:0009179	Deviation of the 5th finger	3207	HOXA11	ORPHA:71289
HP:0009179	Deviation of the 5th finger	3207	HOXA11	OMIM:605432
HP:0009179	Deviation of the 5th finger	81031	SLC2A10	ORPHA:3342
HP:0009179	Deviation of the 5th finger	55165	CEP55	OMIM:236500
HP:0009179	Deviation of the 5th finger	157570	ESCO2	ORPHA:3103
HP:0009179	Deviation of the 5th finger	84992	PIGY	OMIM:616809
HP:0009179	Deviation of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0009179	Deviation of the 5th finger	4094	MAF	ORPHA:1272
HP:0009179	Deviation of the 5th finger	6628	SNRPB	ORPHA:1393
HP:0009179	Deviation of the 5th finger	6628	SNRPB	OMIM:117650
HP:0009179	Deviation of the 5th finger	1028	CDKN1C	ORPHA:397590
HP:0009179	Deviation of the 5th finger	5324	PLAG1	ORPHA:397590
HP:0009179	Deviation of the 5th finger	9555	MACROH2A1	ORPHA:1275
HP:0009179	Deviation of the 5th finger	5307	PITX1	ORPHA:1275
HP:0009179	Deviation of the 5th finger	5422	POLA1	ORPHA:163976
HP:0009179	Deviation of the 5th finger	5422	POLA1	OMIM:301030
HP:0009179	Deviation of the 5th finger	55906	ZC4H2	ORPHA:3454
HP:0009179	Deviation of the 5th finger	10430	TMEM147	OMIM:620075
HP:0009179	Deviation of the 5th finger	3187	HNRNPH1	OMIM:620083
HP:0009179	Deviation of the 5th finger	2626	GATA4	OMIM:187500
HP:0009179	Deviation of the 5th finger	2626	GATA4	ORPHA:3303
HP:0009179	Deviation of the 5th finger	23414	ZFPM2	OMIM:187500
HP:0009179	Deviation of the 5th finger	23414	ZFPM2	ORPHA:3303
HP:0009179	Deviation of the 5th finger	1482	NKX2-5	OMIM:187500
HP:0009179	Deviation of the 5th finger	1482	NKX2-5	ORPHA:3303
HP:0009179	Deviation of the 5th finger	182	JAG1	OMIM:187500
HP:0009179	Deviation of the 5th finger	182	JAG1	ORPHA:3303
HP:0009179	Deviation of the 5th finger	6899	TBX1	OMIM:187500
HP:0009179	Deviation of the 5th finger	6899	TBX1	ORPHA:3303
HP:0009179	Deviation of the 5th finger	2627	GATA6	OMIM:187500
HP:0009179	Deviation of the 5th finger	2627	GATA6	ORPHA:3303
HP:0009179	Deviation of the 5th finger	545	ATR	ORPHA:808
HP:0009179	Deviation of the 5th finger	545	ATR	OMIM:210600
HP:0009179	Deviation of the 5th finger	1062	CENPE	ORPHA:808
HP:0009179	Deviation of the 5th finger	5116	PCNT	ORPHA:808
HP:0009179	Deviation of the 5th finger	5116	PCNT	OMIM:210720
HP:0009179	Deviation of the 5th finger	5116	PCNT	ORPHA:2637
HP:0009179	Deviation of the 5th finger	79902	NUP85	ORPHA:808
HP:0009179	Deviation of the 5th finger	84126	ATRIP	ORPHA:808
HP:0009179	Deviation of the 5th finger	55835	CENPJ	ORPHA:808
HP:0009179	Deviation of the 5th finger	10293	TRAIP	ORPHA:808
HP:0009179	Deviation of the 5th finger	10733	PLK4	ORPHA:808
HP:0009179	Deviation of the 5th finger	9939	RBM8A	ORPHA:3320
HP:0009179	Deviation of the 5th finger	9939	RBM8A	OMIM:274000
HP:0009179	Deviation of the 5th finger	55023	PHIP	ORPHA:589905
HP:0009179	Deviation of the 5th finger	55023	PHIP	OMIM:617991
HP:0009179	Deviation of the 5th finger	8626	TP63	ORPHA:69085
HP:0009179	Deviation of the 5th finger	29123	ANKRD11	OMIM:148050
HP:0009179	Deviation of the 5th finger	9775	EIF4A3	OMIM:268305
HP:0009179	Deviation of the 5th finger	2702	GJA5	OMIM:612474
HP:0009179	Deviation of the 5th finger	2702	GJA5	ORPHA:3303
HP:0009179	Deviation of the 5th finger	2703	GJA8	OMIM:612474
HP:0009179	Deviation of the 5th finger	3897	L1CAM	ORPHA:2466
HP:0009179	Deviation of the 5th finger	4208	MEF2C	OMIM:613443
HP:0009179	Deviation of the 5th finger	55690	PACS1	ORPHA:329224
HP:0009179	Deviation of the 5th finger	2245	FGD1	ORPHA:915
HP:0009179	Deviation of the 5th finger	9230	RAB11B	OMIM:617807
HP:0009179	Deviation of the 5th finger	22856	CHSY1	ORPHA:363417
HP:0009179	Deviation of the 5th finger	51621	KLF13	OMIM:612001
HP:0009179	Deviation of the 5th finger	5648	MASP1	OMIM:257920
HP:0009179	Deviation of the 5th finger	23394	ADNP	OMIM:615873
HP:0009179	Deviation of the 5th finger	9759	HDAC4	ORPHA:1001
HP:0009179	Deviation of the 5th finger	11133	KPTN	OMIM:615637
HP:0009179	Deviation of the 5th finger	11133	KPTN	ORPHA:397612
HP:0009179	Deviation of the 5th finger	85358	SHANK3	OMIM:606232
HP:0009179	Deviation of the 5th finger	85358	SHANK3	ORPHA:48652
HP:0009179	Deviation of the 5th finger	23028	KDM1A	OMIM:616728
HP:0009179	Deviation of the 5th finger	23028	KDM1A	ORPHA:477993
HP:0009179	Deviation of the 5th finger	137814	NKX2-6	ORPHA:3303
HP:0009179	Deviation of the 5th finger	3791	KDR	ORPHA:3303
HP:0009179	Deviation of the 5th finger	2657	GDF1	ORPHA:3303
HP:0009179	Deviation of the 5th finger	140628	GATA5	ORPHA:3303
HP:0009179	Deviation of the 5th finger	2324	FLT4	ORPHA:3303
HP:0009179	Deviation of the 5th finger	10370	CITED2	ORPHA:3303
HP:0009179	Deviation of the 5th finger	2334	AFF2	ORPHA:100973
HP:0009179	Deviation of the 5th finger	10847	SRCAP	OMIM:136140
HP:0009179	Deviation of the 5th finger	10982	MAPRE2	OMIM:616734
HP:0009179	Deviation of the 5th finger	4131	MAP1B	OMIM:618918
HP:0009179	Deviation of the 5th finger	54808	DYM	OMIM:223800
HP:0009179	Deviation of the 5th finger	84679	SLC9A7	OMIM:301024
HP:0009179	Deviation of the 5th finger	10735	STAG2	OMIM:301022
HP:0009179	Deviation of the 5th finger	10265	IRX5	OMIM:611174
HP:0009179	Deviation of the 5th finger	5925	RB1	ORPHA:1587
HP:0009179	Deviation of the 5th finger	7874	USP7	OMIM:616863
HP:0009179	Deviation of the 5th finger	3759	KCNJ2	OMIM:170390
HP:0009179	Deviation of the 5th finger	81620	CDT1	ORPHA:2554
HP:0009179	Deviation of the 5th finger	5000	ORC4	ORPHA:2554
HP:0009179	Deviation of the 5th finger	23594	ORC6	ORPHA:2554
HP:0009179	Deviation of the 5th finger	8318	CDC45	ORPHA:2554
HP:0009179	Deviation of the 5th finger	990	CDC6	ORPHA:2554
HP:0009179	Deviation of the 5th finger	51053	GMNN	ORPHA:2554
HP:0009179	Deviation of the 5th finger	64093	SMOC1	ORPHA:1106
HP:0009179	Deviation of the 5th finger	25	ABL1	OMIM:617602
HP:0009179	Deviation of the 5th finger	83696	TRAPPC9	ORPHA:352530
HP:0009179	Deviation of the 5th finger	860	RUNX2	ORPHA:1452
HP:0009179	Deviation of the 5th finger	29980	DONSON	OMIM:617604
HP:0009179	Deviation of the 5th finger	6638	SNRPN	ORPHA:177907
HP:0009179	Deviation of the 5th finger	23476	BRD4	ORPHA:199
HP:0009179	Deviation of the 5th finger	8243	SMC1A	ORPHA:199
HP:0009179	Deviation of the 5th finger	10664	CTCF	ORPHA:363611
HP:0009179	Deviation of the 5th finger	157680	VPS13B	ORPHA:193
HP:0009179	Deviation of the 5th finger	22931	RAB18	OMIM:614222
HP:0009179	Deviation of the 5th finger	9894	TELO2	ORPHA:488642
HP:0009179	Deviation of the 5th finger	490	ATP2B1	OMIM:619910
HP:0009179	Deviation of the 5th finger	8405	SPOP	OMIM:618828
HP:0009179	Deviation of the 5th finger	8405	SPOP	OMIM:618829
HP:0009179	Deviation of the 5th finger	284252	KCTD1	OMIM:181270
HP:0009179	Deviation of the 5th finger	54870	QRICH1	OMIM:617982
HP:0009179	Deviation of the 5th finger	139285	AMER1	OMIM:300373
HP:0009179	Deviation of the 5th finger	4841	NONO	ORPHA:466791
HP:0009179	Deviation of the 5th finger	1663	DDX11	OMIM:613398
HP:0009179	Deviation of the 5th finger	51317	PHF21A	OMIM:618725
HP:0009179	Deviation of the 5th finger	2186	BPTF	OMIM:617755
HP:0009179	Deviation of the 5th finger	59341	TRPV4	ORPHA:2635
HP:0009179	Deviation of the 5th finger	10225	CD96	ORPHA:1308
HP:0009179	Deviation of the 5th finger	8481	OFD1	ORPHA:2750
HP:0009179	Deviation of the 5th finger	4848	CNOT2	OMIM:618608
HP:0009179	Deviation of the 5th finger	64131	XYLT1	ORPHA:1425
HP:0009179	Deviation of the 5th finger	124583	CANT1	ORPHA:1425
HP:0009179	Deviation of the 5th finger	55790	CSGALNACT1	ORPHA:1425
HP:0009179	Deviation of the 5th finger	4204	MECP2	OMIM:300260
HP:0009179	Deviation of the 5th finger	55553	SOX6	OMIM:618971
HP:0009179	Deviation of the 5th finger	84148	KAT8	OMIM:618974
HP:0009179	Deviation of the 5th finger	58499	ZNF462	OMIM:618619
HP:0009179	Deviation of the 5th finger	4882	NPR2	OMIM:615923
HP:0009179	Deviation of the 5th finger	9469	CHST3	OMIM:143095
HP:0009179	Deviation of the 5th finger	5518	PPP2R1A	OMIM:616362
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2778	GNAS	ORPHA:79445
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10236	HNRNPR	OMIM:620073
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57492	ARID1B	OMIM:135900
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3481	IGF2	OMIM:180860
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6598	SMARCB1	OMIM:614608
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3930	LBR	OMIM:215140
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7048	TGFBR2	OMIM:610168
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1147	CHUK	OMIM:619339
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84295	PHF6	OMIM:301900
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84992	PIGY	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84992	PIGY	OMIM:616809
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84720	PIGO	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84720	PIGO	OMIM:614749
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	93210	PGAP3	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	93210	PGAP3	OMIM:615716
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	284098	PIGW	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	27315	PGAP2	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	27315	PGAP2	OMIM:614207
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9487	PIGL	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57020	VPS35L	OMIM:619135
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2972	BRF1	OMIM:616202
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29929	ALG6	ORPHA:79320
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5447	POR	ORPHA:95699
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57167	SALL4	ORPHA:959
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	ORPHA:1826
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6885	MAP3K7	ORPHA:1826
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	658	BMPR1B	OMIM:616849
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5293	PIK3CD	ORPHA:221139
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	90417	KNSTRN	ORPHA:221139
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5727	PTCH1	OMIM:109400
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9488	PIGB	OMIM:618580
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10617	STAMBP	OMIM:614261
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8200	GDF5	OMIM:615072
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2335	FN1	ORPHA:93315
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	23556	PIGN	ORPHA:2059
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	23556	PIGN	OMIM:614080
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	OMIM:606835
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	ORPHA:85169
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51412	ACTL6B	OMIM:618470
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9241	NOG	OMIM:184460
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9241	NOG	ORPHA:140908
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9241	NOG	OMIM:611377
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57465	TBC1D24	OMIM:220500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57465	TBC1D24	ORPHA:79500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	613	BCR	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1399	CRKL	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5594	MAPK1	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1855	DVL1	OMIM:616331
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55784	MCTP2	ORPHA:1596
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4000	LMNA	OMIM:248370
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4000	LMNA	ORPHA:90153
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5744	PTHLH	ORPHA:93387
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	ORPHA:93387
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	ORPHA:93406
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	OMIM:186300
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3764	KCNJ8	ORPHA:1517
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10060	ABCC9	ORPHA:1517
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10651	MTX2	ORPHA:90153
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57539	WDR35	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57539	WDR35	OMIM:614091
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	112752	IFT43	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51098	IFT52	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51098	IFT52	OMIM:617102
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55764	IFT122	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55764	IFT122	OMIM:218330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57728	WDR19	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57728	WDR19	OMIM:614378
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6926	TBX3	ORPHA:3138
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55650	PIGV	OMIM:239300
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29957	SLC25A24	ORPHA:2963
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29957	SLC25A24	ORPHA:2095
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29957	SLC25A24	OMIM:612289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6595	SMARCA2	OMIM:619293
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4784	NFIX	OMIM:602535
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	24140	FTSJ1	OMIM:309549
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54496	PRMT7	OMIM:617157
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	OMIM:135500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9469	CHST3	OMIM:143095
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	64359	NXN	ORPHA:1507
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4920	ROR2	ORPHA:1507
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8289	ARID1A	OMIM:614607
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3209	HOXA13	ORPHA:2438
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5566	PRKACA	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5567	PRKACB	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2735	GLI1	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2121	EVC	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51626	DYNC2LI1	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	132884	EVC2	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3549	IHH	OMIM:607778
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3549	IHH	OMIM:112500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2475	MTOR	OMIM:616638
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5116	PCNT	OMIM:210720
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9419	CRIPT	OMIM:615789
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3782	KCNN3	OMIM:618658
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4853	NOTCH2	ORPHA:955
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26040	SETBP1	OMIM:269150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26040	SETBP1	ORPHA:798
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2239	GPC4	ORPHA:2662
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2239	GPC4	OMIM:312870
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54	ACP5	ORPHA:1855
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6197	RPS6KA3	ORPHA:192
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5281	PIGF	OMIM:619356
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	94005	PIGS	OMIM:618143
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2677	GGCX	OMIM:277450
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10283	CWC27	OMIM:250410
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	415	ARSL	ORPHA:79345
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	415	ARSL	OMIM:302950
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	526	ATP6V1B2	ORPHA:79500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2317	FLNB	ORPHA:503
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1311	COMP	OMIM:177170
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	25839	COG4	OMIM:618150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26137	ZBTB20	OMIM:259050
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	60401	EDA2R	ORPHA:181
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1896	EDA	ORPHA:181
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4256	MGP	ORPHA:85202
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4256	MGP	OMIM:245150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	28952	CCDC22	OMIM:300963
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	182	JAG1	OMIM:118450
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7291	TWIST1	OMIM:617746
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6605	SMARCE1	OMIM:616938
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3516	RBPJ	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3516	RBPJ	OMIM:614814
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4851	NOTCH1	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57514	ARHGAP31	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57572	DOCK6	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	285203	EOGT	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54567	DLL4	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	50515	CHST11	OMIM:618167
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8242	KDM5C	OMIM:300534
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1186	CLCN7	ORPHA:53
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2702	GJA5	OMIM:612474
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2703	GJA8	OMIM:612474
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2719	GPC3	OMIM:312870
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6664	SOX11	OMIM:615866
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55081	IFT57	OMIM:617927
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	25886	POC1A	OMIM:614813
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	865	CBFB	OMIM:620099
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7227	TRPS1	ORPHA:77258
HP:0009845	Bullet-shaped middle phalanges of the hand	4784	NFIX	OMIM:602535
HP:0001233	2-3 finger syndactyly	2188	FANCF	OMIM:603467
HP:0001233	2-3 finger syndactyly	50964	SOST	OMIM:269500
HP:0001233	2-3 finger syndactyly	50964	SOST	ORPHA:3152
HP:0001233	2-3 finger syndactyly	5307	PITX1	OMIM:186550
HP:0001233	2-3 finger syndactyly	4038	LRP4	ORPHA:3152
HP:0001233	2-3 finger syndactyly	1832	DSP	ORPHA:158687
HP:0001233	2-3 finger syndactyly	3728	JUP	ORPHA:158687
HP:0001233	2-3 finger syndactyly	6608	SMO	OMIM:601707
HP:0001233	2-3 finger syndactyly	1001	CDH3	OMIM:225280
HP:0001233	2-3 finger syndactyly	2263	FGFR2	OMIM:149730
HP:0001233	2-3 finger syndactyly	2719	GPC3	OMIM:312870
HP:0001233	2-3 finger syndactyly	2239	GPC4	OMIM:312870
HP:0001233	2-3 finger syndactyly	51057	WDPCP	OMIM:217085
HP:0001233	2-3 finger syndactyly	51057	WDPCP	ORPHA:1338
HP:0006040	Long second metacarpal	860	RUNX2	OMIM:119600
HP:0009701	Metacarpal synostosis	8823	FGF16	OMIM:309630
HP:0009701	Metacarpal synostosis	64093	SMOC1	OMIM:206920
HP:0009701	Metacarpal synostosis	9775	EIF4A3	OMIM:268305
HP:0009701	Metacarpal synostosis	9241	NOG	ORPHA:3250
HP:0009701	Metacarpal synostosis	9241	NOG	OMIM:185800
HP:0009701	Metacarpal synostosis	8200	GDF5	ORPHA:3250
HP:0009701	Metacarpal synostosis	10084	PQBP1	OMIM:309500
HP:0009701	Metacarpal synostosis	4841	NONO	OMIM:300967
HP:0009701	Metacarpal synostosis	3239	HOXD13	ORPHA:93406
HP:0009701	Metacarpal synostosis	727857	BHLHA9	ORPHA:157801
HP:0009701	Metacarpal synostosis	2192	FBLN1	OMIM:608180
HP:0009701	Metacarpal synostosis	2254	FGF9	OMIM:612961
HP:0009701	Metacarpal synostosis	4038	LRP4	OMIM:212780
HP:0009701	Metacarpal synostosis	7291	TWIST1	ORPHA:35099
HP:0009701	Metacarpal synostosis	2261	FGFR3	ORPHA:35099
HP:0009701	Metacarpal synostosis	6938	TCF12	ORPHA:35099
HP:0009701	Metacarpal synostosis	7545	ZIC1	ORPHA:35099
HP:0009701	Metacarpal synostosis	5447	POR	ORPHA:95699
HP:0006042	Y-shaped metacarpals	3239	HOXD13	OMIM:186000
HP:0006042	Y-shaped metacarpals	4750	NEK1	ORPHA:2751
HP:0006042	Y-shaped metacarpals	2737	GLI3	OMIM:146510
HP:0006042	Y-shaped metacarpals	65250	CPLANE1	OMIM:277170
HP:0006042	Y-shaped metacarpals	65250	CPLANE1	ORPHA:2754
HP:0006042	Y-shaped metacarpals	27152	INTU	OMIM:617926
HP:0006042	Y-shaped metacarpals	10210	TOPORS	ORPHA:2754
HP:0006042	Y-shaped metacarpals	9851	KIAA0753	ORPHA:2754
HP:0006042	Y-shaped metacarpals	26123	TCTN3	ORPHA:2754
HP:0006042	Y-shaped metacarpals	5147	PDE6D	ORPHA:2754
HP:0006042	Y-shaped metacarpals	51259	TMEM216	ORPHA:2754
HP:0006042	Y-shaped metacarpals	8481	OFD1	ORPHA:2754
HP:0006042	Y-shaped metacarpals	317662	FAM149B1	ORPHA:2754
HP:0006042	Y-shaped metacarpals	374654	KIF7	ORPHA:2754
HP:0009600	Contracture of thumb	652	BMP4	OMIM:607932
HP:0009600	Contracture of thumb	388015	RTL1	ORPHA:96334
HP:0009600	Contracture of thumb	8788	DLK1	ORPHA:96334
HP:0009600	Contracture of thumb	55384	MEG3	ORPHA:96334
HP:0009600	Contracture of thumb	3897	L1CAM	OMIM:307000
HP:0009600	Contracture of thumb	1889	ECE1	OMIM:613870
HP:0001176	Large hands	6197	RPS6KA3	ORPHA:192
HP:0001176	Large hands	6197	RPS6KA3	ORPHA:276630
HP:0001176	Large hands	8925	HERC1	OMIM:617011
HP:0001176	Large hands	5447	POR	OMIM:201750
HP:0001176	Large hands	23512	SUZ12	OMIM:618786
HP:0001176	Large hands	23512	SUZ12	ORPHA:3447
HP:0001176	Large hands	9158	FIBP	ORPHA:500095
HP:0001176	Large hands	9158	FIBP	OMIM:617107
HP:0001176	Large hands	26580	BSCL2	OMIM:269700
HP:0001176	Large hands	26580	BSCL2	ORPHA:528
HP:0001176	Large hands	100151683	RNU4ATAC	OMIM:210710
HP:0001176	Large hands	100151683	RNU4ATAC	ORPHA:2636
HP:0001176	Large hands	3643	INSR	ORPHA:508
HP:0001176	Large hands	3643	INSR	OMIM:246200
HP:0001176	Large hands	5189	PEX1	ORPHA:3220
HP:0001176	Large hands	5190	PEX6	ORPHA:3220
HP:0001176	Large hands	85358	SHANK3	OMIM:606232
HP:0001176	Large hands	85358	SHANK3	ORPHA:48652
HP:0001176	Large hands	11128	POLR3A	OMIM:264090
HP:0001176	Large hands	64324	NSD1	ORPHA:821
HP:0001176	Large hands	64324	NSD1	OMIM:117550
HP:0001176	Large hands	64324	NSD1	ORPHA:3447
HP:0001176	Large hands	29072	SETD2	ORPHA:821
HP:0001176	Large hands	10297	APC2	ORPHA:821
HP:0001176	Large hands	55690	PACS1	OMIM:615009
HP:0001176	Large hands	4221	MEN1	ORPHA:99725
HP:0001176	Large hands	9049	AIP	ORPHA:99725
HP:0001176	Large hands	9049	AIP	ORPHA:963
HP:0001176	Large hands	8242	KDM5C	OMIM:300534
HP:0001176	Large hands	440	ASNS	OMIM:615574
HP:0001176	Large hands	9487	PIGL	OMIM:280000
HP:0001176	Large hands	23133	PHF8	ORPHA:85287
HP:0001176	Large hands	23133	PHF8	OMIM:300263
HP:0001176	Large hands	2146	EZH2	OMIM:277590
HP:0001176	Large hands	2146	EZH2	ORPHA:3447
HP:0001176	Large hands	5468	PPARG	ORPHA:528
HP:0001176	Large hands	10555	AGPAT2	ORPHA:528
HP:0001176	Large hands	10555	AGPAT2	OMIM:608594
HP:0001176	Large hands	284119	CAVIN1	ORPHA:528
HP:0001176	Large hands	2353	FOS	ORPHA:528
HP:0001176	Large hands	857	CAV1	ORPHA:528
HP:0001176	Large hands	83550	GPR101	ORPHA:963
HP:0001176	Large hands	8726	EED	ORPHA:3447
HP:0001176	Large hands	8726	EED	OMIM:617561
HP:0001176	Large hands	6390	SDHB	OMIM:606764
HP:0001176	Large hands	6391	SDHC	OMIM:606764
HP:0001176	Large hands	3815	KIT	OMIM:606764
HP:0001176	Large hands	4763	NF1	ORPHA:363700
HP:0001176	Large hands	4763	NF1	ORPHA:97685
HP:0001176	Large hands	372	ARCN1	OMIM:617164
HP:0010049	Short metacarpal	1311	COMP	ORPHA:750
HP:0010049	Short metacarpal	9719	ADAMTSL2	OMIM:231050
HP:0010049	Short metacarpal	2535	FZD2	OMIM:164745
HP:0010049	Short metacarpal	2535	FZD2	ORPHA:93328
HP:0010049	Short metacarpal	23476	BRD4	ORPHA:199
HP:0010049	Short metacarpal	9126	SMC3	ORPHA:199
HP:0010049	Short metacarpal	8243	SMC1A	ORPHA:199
HP:0010049	Short metacarpal	25836	NIPBL	ORPHA:199
HP:0010049	Short metacarpal	55869	HDAC8	ORPHA:199
HP:0010049	Short metacarpal	5885	RAD21	ORPHA:199
HP:0010049	Short metacarpal	90	ACVR1	OMIM:135100
HP:0010049	Short metacarpal	57020	VPS35L	OMIM:619135
HP:0010049	Short metacarpal	9241	NOG	OMIM:186570
HP:0010049	Short metacarpal	9241	NOG	OMIM:611377
HP:0010049	Short metacarpal	8200	GDF5	ORPHA:63442
HP:0010049	Short metacarpal	8200	GDF5	OMIM:113100
HP:0010049	Short metacarpal	57167	SALL4	OMIM:147750
HP:0010049	Short metacarpal	3209	HOXA13	OMIM:140000
HP:0010049	Short metacarpal	3209	HOXA13	ORPHA:2438
HP:0010049	Short metacarpal	658	BMPR1B	OMIM:609441
HP:0010049	Short metacarpal	10847	SRCAP	OMIM:136140
HP:0010049	Short metacarpal	55215	FANCI	OMIM:609053
HP:0010049	Short metacarpal	6662	SOX9	OMIM:114290
HP:0010049	Short metacarpal	5116	PCNT	OMIM:210720
HP:0010049	Short metacarpal	26040	SETBP1	OMIM:269150
HP:0010049	Short metacarpal	26040	SETBP1	ORPHA:798
HP:0010049	Short metacarpal	388015	RTL1	ORPHA:96334
HP:0010049	Short metacarpal	8788	DLK1	ORPHA:96334
HP:0010049	Short metacarpal	55384	MEG3	ORPHA:96334
HP:0010049	Short metacarpal	3911	LAMA5	OMIM:620076
HP:0010049	Short metacarpal	124583	CANT1	OMIM:251450
HP:0010049	Short metacarpal	650	BMP2	ORPHA:93396
HP:0010049	Short metacarpal	3930	LBR	OMIM:169400
HP:0010049	Short metacarpal	2316	FLNA	OMIM:311300
HP:0010049	Short metacarpal	374969	SVBP	OMIM:618569
HP:0010049	Short metacarpal	2778	GNAS	ORPHA:79443
HP:0010049	Short metacarpal	2778	GNAS	ORPHA:79444
HP:0010049	Short metacarpal	2737	GLI3	ORPHA:672
HP:0010049	Short metacarpal	2737	GLI3	OMIM:146510
HP:0010049	Short metacarpal	64840	PORCN	OMIM:305600
HP:0010049	Short metacarpal	55612	FERMT1	ORPHA:2908
HP:0010049	Short metacarpal	94005	PIGS	OMIM:618143
HP:0010049	Short metacarpal	5593	PRKG2	OMIM:619638
HP:0010049	Short metacarpal	6473	SHOX	OMIM:127300
HP:0010049	Short metacarpal	6736	SRY	ORPHA:1772
HP:0010049	Short metacarpal	79633	FAT4	OMIM:615546
HP:0010049	Short metacarpal	8642	DCHS1	OMIM:601390
HP:0010049	Short metacarpal	26224	FBXL3	OMIM:606220
HP:0010049	Short metacarpal	5727	PTCH1	OMIM:109400
HP:0010049	Short metacarpal	860	RUNX2	OMIM:156510
HP:0010049	Short metacarpal	8823	FGF16	OMIM:309630
HP:0010049	Short metacarpal	2137	EXTL3	ORPHA:508533
HP:0010049	Short metacarpal	1280	COL2A1	OMIM:271700
HP:0010049	Short metacarpal	1280	COL2A1	OMIM:609162
HP:0010049	Short metacarpal	9361	LONP1	OMIM:600373
HP:0010049	Short metacarpal	9361	LONP1	ORPHA:1458
HP:0010049	Short metacarpal	5573	PRKAR1A	ORPHA:950
HP:0010049	Short metacarpal	5573	PRKAR1A	OMIM:101800
HP:0010049	Short metacarpal	5573	PRKAR1A	ORPHA:280651
HP:0010049	Short metacarpal	5144	PDE4D	ORPHA:950
HP:0010049	Short metacarpal	5144	PDE4D	ORPHA:439822
HP:0010049	Short metacarpal	5144	PDE4D	OMIM:614613
HP:0010049	Short metacarpal	5144	PDE4D	ORPHA:280651
HP:0010049	Short metacarpal	64374	SIL1	OMIM:248800
HP:0010049	Short metacarpal	4921	DDR2	OMIM:271665
HP:0010049	Short metacarpal	54808	DYM	OMIM:607326
HP:0010049	Short metacarpal	54808	DYM	OMIM:223800
HP:0010049	Short metacarpal	2131	EXT1	OMIM:133700
HP:0010049	Short metacarpal	2131	EXT1	ORPHA:321
HP:0010049	Short metacarpal	2132	EXT2	OMIM:133701
HP:0010049	Short metacarpal	2132	EXT2	ORPHA:321
HP:0010049	Short metacarpal	2879	GPX4	ORPHA:93317
HP:0010049	Short metacarpal	2879	GPX4	OMIM:250220
HP:0010049	Short metacarpal	100151683	RNU4ATAC	OMIM:210710
HP:0010049	Short metacarpal	100151683	RNU4ATAC	OMIM:616651
HP:0010049	Short metacarpal	6885	MAP3K7	OMIM:617137
HP:0010049	Short metacarpal	6885	MAP3K7	ORPHA:1826
HP:0010049	Short metacarpal	9759	HDAC4	ORPHA:1001
HP:0010049	Short metacarpal	9759	HDAC4	OMIM:600430
HP:0010049	Short metacarpal	89970	RSPRY1	OMIM:616723
HP:0010049	Short metacarpal	89970	RSPRY1	ORPHA:457395
HP:0010049	Short metacarpal	55733	HHAT	OMIM:600092
HP:0010049	Short metacarpal	55733	HHAT	ORPHA:1422
HP:0010049	Short metacarpal	5447	POR	ORPHA:95699
HP:0010049	Short metacarpal	1836	SLC26A2	ORPHA:56304
HP:0010049	Short metacarpal	1836	SLC26A2	ORPHA:93307
HP:0010049	Short metacarpal	1836	SLC26A2	OMIM:226900
HP:0010049	Short metacarpal	114803	MYSM1	ORPHA:508542
HP:0010049	Short metacarpal	149775	GNAS-AS1	OMIM:603233
HP:0010049	Short metacarpal	8675	STX16	OMIM:603233
HP:0010049	Short metacarpal	117581	TWIST2	OMIM:200110
HP:0010049	Short metacarpal	25782	RAB3GAP2	OMIM:212720
HP:0010049	Short metacarpal	5744	PTHLH	ORPHA:93387
HP:0010049	Short metacarpal	5744	PTHLH	OMIM:613382
HP:0010049	Short metacarpal	3239	HOXD13	ORPHA:93387
HP:0010049	Short metacarpal	3239	HOXD13	OMIM:113300
HP:0010049	Short metacarpal	10225	CD96	OMIM:211750
HP:0010049	Short metacarpal	64175	P3H1	OMIM:610915
HP:0010049	Short metacarpal	6197	RPS6KA3	OMIM:303600
HP:0010049	Short metacarpal	6197	RPS6KA3	ORPHA:192
HP:0010049	Short metacarpal	9469	CHST3	ORPHA:263463
HP:0010049	Short metacarpal	9469	CHST3	OMIM:143095
HP:0010049	Short metacarpal	54496	PRMT7	OMIM:617157
HP:0010049	Short metacarpal	64131	XYLT1	OMIM:615777
HP:0010049	Short metacarpal	2200	FBN1	ORPHA:969
HP:0010049	Short metacarpal	2200	FBN1	OMIM:608328
HP:0010049	Short metacarpal	2200	FBN1	OMIM:102370
HP:0010049	Short metacarpal	4054	LTBP3	ORPHA:969
HP:0010049	Short metacarpal	3759	KCNJ2	OMIM:170390
HP:0010049	Short metacarpal	2317	FLNB	OMIM:108720
HP:0010049	Short metacarpal	2317	FLNB	OMIM:272460
HP:0010049	Short metacarpal	2317	FLNB	OMIM:150250
HP:0010049	Short metacarpal	157680	VPS13B	OMIM:216550
HP:0010049	Short metacarpal	5139	PDE3A	OMIM:112410
HP:0010049	Short metacarpal	5139	PDE3A	ORPHA:1276
HP:0010049	Short metacarpal	3549	IHH	OMIM:607778
HP:0010049	Short metacarpal	3549	IHH	OMIM:112500
HP:0010049	Short metacarpal	633	BGN	OMIM:300106
HP:0010049	Short metacarpal	5745	PTH1R	ORPHA:50945
HP:0010049	Short metacarpal	29980	DONSON	OMIM:617604
HP:0010049	Short metacarpal	4882	NPR2	OMIM:602875
HP:0010049	Short metacarpal	145173	B3GLCT	OMIM:261540
HP:0010049	Short metacarpal	9401	RECQL4	ORPHA:221016
HP:0010049	Short metacarpal	10283	CWC27	OMIM:250410
HP:0010049	Short metacarpal	10283	CWC27	ORPHA:166035
HP:0010049	Short metacarpal	4810	NHS	ORPHA:627
HP:0010049	Short metacarpal	25839	COG4	OMIM:618150
HP:0010049	Short metacarpal	3636	INPPL1	OMIM:258480
HP:0010049	Short metacarpal	9321	TRIP11	OMIM:184260
HP:0010049	Short metacarpal	5130	PCYT1A	ORPHA:85167
HP:0010049	Short metacarpal	5130	PCYT1A	OMIM:608940
HP:0010049	Short metacarpal	54928	BPNT2	OMIM:614078
HP:0010049	Short metacarpal	51098	IFT52	OMIM:617102
HP:0010049	Short metacarpal	1299	COL9A3	OMIM:600969
HP:0010049	Short metacarpal	4148	MATN3	OMIM:607078
HP:0010049	Short metacarpal	126792	B3GALT6	OMIM:271640
HP:0010049	Short metacarpal	55252	ASXL2	OMIM:617190
HP:0010049	Short metacarpal	5264	PHYH	ORPHA:773
HP:0010049	Short metacarpal	5191	PEX7	ORPHA:773
HP:0010049	Short metacarpal	23483	TGDS	OMIM:616145
HP:0010049	Short metacarpal	2260	FGFR1	OMIM:166250
HP:0010049	Short metacarpal	1788	DNMT3A	OMIM:618724
HP:0010049	Short metacarpal	1302	COL11A2	ORPHA:1427
HP:0010049	Short metacarpal	22856	CHSY1	OMIM:605282
HP:0010049	Short metacarpal	6595	SMARCA2	OMIM:601358
HP:0010049	Short metacarpal	9775	EIF4A3	OMIM:268305
HP:0010049	Short metacarpal	54101	RIPK4	OMIM:263650
HP:0010049	Short metacarpal	83452	RAB33B	OMIM:615222
HP:0010049	Short metacarpal	91252	SLC39A13	OMIM:612350
HP:0010049	Short metacarpal	57560	IFT80	OMIM:611263
HP:0010049	Short metacarpal	25871	NEPRO	OMIM:618853
HP:0010049	Short metacarpal	7227	TRPS1	OMIM:190350
HP:0010049	Short metacarpal	7227	TRPS1	OMIM:190351
HP:0010049	Short metacarpal	7227	TRPS1	ORPHA:77258
HP:0010049	Short metacarpal	90417	KNSTRN	OMIM:613328
HP:0010049	Short metacarpal	5293	PIK3CD	OMIM:613328
HP:0010049	Short metacarpal	25886	POC1A	OMIM:614813
HP:0010049	Short metacarpal	6023	RMRP	OMIM:250460
HP:0010049	Short metacarpal	64682	ANAPC1	ORPHA:221008
HP:0006048	Distal widening of metacarpals	4784	NFIX	OMIM:602535
HP:0001239	Wrist flexion contracture	2316	FLNA	OMIM:305620
HP:0001239	Wrist flexion contracture	2316	FLNA	ORPHA:1826
HP:0001239	Wrist flexion contracture	4204	MECP2	OMIM:300055
HP:0001239	Wrist flexion contracture	10216	PRG4	OMIM:208250
HP:0001239	Wrist flexion contracture	4621	MYH3	OMIM:193700
HP:0001239	Wrist flexion contracture	4593	MUSK	OMIM:208150
HP:0001239	Wrist flexion contracture	29895	MYL11	OMIM:619110
HP:0001239	Wrist flexion contracture	10381	TUBB3	OMIM:600638
HP:0001239	Wrist flexion contracture	57863	CADM3	OMIM:619519
HP:0001239	Wrist flexion contracture	55681	SCYL2	ORPHA:1143
HP:0001239	Wrist flexion contracture	84570	COL25A1	ORPHA:1143
HP:0001239	Wrist flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0001239	Wrist flexion contracture	57211	ADGRG6	OMIM:616503
HP:0001239	Wrist flexion contracture	80208	SPG11	OMIM:616668
HP:0001239	Wrist flexion contracture	6885	MAP3K7	ORPHA:1826
HP:0001239	Wrist flexion contracture	3339	HSPG2	OMIM:255800
HP:0001239	Wrist flexion contracture	3339	HSPG2	ORPHA:800
HP:0001239	Wrist flexion contracture	9719	ADAMTSL2	OMIM:231050
HP:0001239	Wrist flexion contracture	157570	ESCO2	ORPHA:3103
HP:0001239	Wrist flexion contracture	157570	ESCO2	OMIM:268300
HP:0001239	Wrist flexion contracture	126792	B3GALT6	OMIM:609465
HP:0001239	Wrist flexion contracture	4313	MMP2	OMIM:259600
HP:0001239	Wrist flexion contracture	825	CAPN3	ORPHA:267
HP:0001239	Wrist flexion contracture	6913	TBX15	OMIM:260660
HP:0001239	Wrist flexion contracture	388015	RTL1	ORPHA:254528
HP:0001239	Wrist flexion contracture	8788	DLK1	ORPHA:254528
HP:0001239	Wrist flexion contracture	55384	MEG3	ORPHA:254528
HP:0001239	Wrist flexion contracture	4921	DDR2	OMIM:618175
HP:0001239	Wrist flexion contracture	2201	FBN2	OMIM:121050
HP:0001239	Wrist flexion contracture	8449	DHX16	OMIM:618733
HP:0001239	Wrist flexion contracture	2067	ERCC1	OMIM:610758
HP:0001239	Wrist flexion contracture	1303	COL12A1	ORPHA:610
HP:0001239	Wrist flexion contracture	1291	COL6A1	ORPHA:610
HP:0001239	Wrist flexion contracture	1292	COL6A2	ORPHA:610
HP:0001239	Wrist flexion contracture	1293	COL6A3	ORPHA:610
HP:0001239	Wrist flexion contracture	203859	ANO5	ORPHA:206549
HP:0001239	Wrist flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0001239	Wrist flexion contracture	171023	ASXL1	ORPHA:97297
HP:0001239	Wrist flexion contracture	5297	PI4KA	OMIM:616531
HP:0006051	Metacarpal periosteal thickening	9365	KL	OMIM:617994
HP:0009884	Tapered distal phalanges of finger	1075	CTSC	OMIM:245010
HP:0009884	Tapered distal phalanges of finger	1832	DSP	OMIM:609638
HP:0009884	Tapered distal phalanges of finger	259232	NALCN	ORPHA:371364
HP:0009884	Tapered distal phalanges of finger	285175	UNC80	ORPHA:371364
HP:0009884	Tapered distal phalanges of finger	6711	SPTBN1	OMIM:619475
HP:0009467	Radial deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	23483	TGDS	ORPHA:1388
HP:0009467	Radial deviation of the 2nd finger	3549	IHH	OMIM:112500
HP:0009467	Radial deviation of the 2nd finger	2316	FLNA	OMIM:304120
HP:0009467	Radial deviation of the 2nd finger	124583	CANT1	OMIM:251450
HP:0010554	Cutaneous finger syndactyly	1147	CHUK	OMIM:619339
HP:0010554	Cutaneous finger syndactyly	7291	TWIST1	OMIM:617746
HP:0010554	Cutaneous finger syndactyly	64327	LMBR1	OMIM:186200
HP:0010554	Cutaneous finger syndactyly	9791	PTDSS1	OMIM:151050
HP:0010554	Cutaneous finger syndactyly	4621	MYH3	OMIM:178110
HP:0010554	Cutaneous finger syndactyly	63895	PIEZO2	OMIM:114300
HP:0010554	Cutaneous finger syndactyly	4998	ORC1	OMIM:224690
HP:0010554	Cutaneous finger syndactyly	22856	CHSY1	ORPHA:363417
HP:0010554	Cutaneous finger syndactyly	5818	NECTIN1	OMIM:225060
HP:0010554	Cutaneous finger syndactyly	81607	NECTIN4	OMIM:613573
HP:0010554	Cutaneous finger syndactyly	4038	LRP4	OMIM:614305
HP:0010554	Cutaneous finger syndactyly	9241	NOG	OMIM:611377
HP:0010554	Cutaneous finger syndactyly	9241	NOG	OMIM:186500
HP:0010554	Cutaneous finger syndactyly	23592	LEMD3	ORPHA:1306
HP:0010554	Cutaneous finger syndactyly	147372	CCBE1	OMIM:235510
HP:0010554	Cutaneous finger syndactyly	80144	FRAS1	OMIM:219000
HP:0010554	Cutaneous finger syndactyly	1009	CDH11	OMIM:211380
HP:0010554	Cutaneous finger syndactyly	5077	PAX3	OMIM:148820
HP:0010554	Cutaneous finger syndactyly	5077	PAX3	ORPHA:896
HP:0010554	Cutaneous finger syndactyly	3239	HOXD13	OMIM:186300
HP:0010554	Cutaneous finger syndactyly	117581	TWIST2	OMIM:200110
HP:0010554	Cutaneous finger syndactyly	4920	ROR2	OMIM:113000
HP:0010554	Cutaneous finger syndactyly	26040	SETBP1	OMIM:616078
HP:0010554	Cutaneous finger syndactyly	3664	IRF6	OMIM:119500
HP:0010554	Cutaneous finger syndactyly	57728	WDR19	OMIM:614378
HP:0010554	Cutaneous finger syndactyly	55012	PPP2R3C	OMIM:618419
HP:0010554	Cutaneous finger syndactyly	1954	MEGF8	OMIM:614976
HP:0010554	Cutaneous finger syndactyly	79633	FAT4	OMIM:615546
HP:0010554	Cutaneous finger syndactyly	8642	DCHS1	OMIM:601390
HP:0010554	Cutaneous finger syndactyly	2263	FGFR2	OMIM:101200
HP:0010554	Cutaneous finger syndactyly	2737	GLI3	ORPHA:672
HP:0010554	Cutaneous finger syndactyly	284252	KCTD1	OMIM:181270
HP:0010554	Cutaneous finger syndactyly	8626	TP63	ORPHA:69085
HP:0010554	Cutaneous finger syndactyly	8294	H4C9	OMIM:619951
HP:0010554	Cutaneous finger syndactyly	7994	KAT6A	OMIM:616268
HP:0010554	Cutaneous finger syndactyly	775	CACNA1C	OMIM:620029
HP:0010554	Cutaneous finger syndactyly	2697	GJA1	OMIM:257850
HP:0006055	Ulnar deviated club hands	56098	PCDHGC4	OMIM:619880
HP:0006055	Ulnar deviated club hands	1297	COL9A1	ORPHA:166002
HP:0006055	Ulnar deviated club hands	1298	COL9A2	ORPHA:166002
HP:0006055	Ulnar deviated club hands	1299	COL9A3	ORPHA:166002
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7021	TFAP2B	ORPHA:46627
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3481	IGF2	OMIM:180860
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51199	NIN	ORPHA:319675
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51199	NIN	OMIM:614851
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7474	WNT5A	OMIM:180700
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1855	DVL1	OMIM:180700
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	22827	PUF60	ORPHA:508488
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2623	GATA1	OMIM:190685
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2783	GNB2	OMIM:619503
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2697	GJA1	OMIM:164200
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5932	RBBP8	OMIM:251255
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10236	HNRNPR	OMIM:620073
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57492	ARID1B	OMIM:135900
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6598	SMARCB1	OMIM:614608
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9241	NOG	OMIM:186500
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3930	LBR	OMIM:215140
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	29957	SLC25A24	OMIM:612289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7048	TGFBR2	OMIM:610168
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1147	CHUK	OMIM:619339
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3782	KCNN3	OMIM:618658
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57572	DOCK6	OMIM:614219
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	59341	TRPV4	OMIM:606835
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	59341	TRPV4	ORPHA:85169
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55777	MBD5	OMIM:156200
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4613	MYCN	ORPHA:391641
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4613	MYCN	OMIM:164280
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1836	SLC26A2	OMIM:256050
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	650	BMP2	ORPHA:93396
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5745	PTH1R	OMIM:600002
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5422	POLA1	OMIM:301030
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	652	BMP4	OMIM:607932
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4920	ROR2	OMIM:113000
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5144	PDE4D	ORPHA:439822
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8085	KMT2D	ORPHA:2322
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7403	KDM6A	ORPHA:2322
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	25871	NEPRO	OMIM:618853
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51053	GMNN	OMIM:616835
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5116	PCNT	OMIM:210720
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	22995	CEP152	OMIM:613823
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55081	IFT57	OMIM:617927
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	407975	MIR17HG	ORPHA:391646
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4297	KMT2A	OMIM:605130
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2260	FGFR1	OMIM:101600
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2263	FGFR2	OMIM:101600
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	84295	PHF6	OMIM:301900
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3209	HOXA13	OMIM:140000
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3209	HOXA13	ORPHA:2438
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8200	GDF5	OMIM:201250
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	84992	PIGY	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	84992	PIGY	OMIM:616809
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	84720	PIGO	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	84720	PIGO	OMIM:614749
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	93210	PGAP3	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	93210	PGAP3	OMIM:615716
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	284098	PIGW	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	27315	PGAP2	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	27315	PGAP2	OMIM:614207
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55650	PIGV	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9487	PIGL	ORPHA:247262
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57020	VPS35L	OMIM:619135
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4256	MGP	OMIM:245150
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2972	BRF1	OMIM:616202
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	29929	ALG6	ORPHA:79320
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5447	POR	ORPHA:95699
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	727857	BHLHA9	OMIM:609432
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	526	ATP6V1B2	OMIM:124480
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2122	MECOM	OMIM:616738
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3239	HOXD13	ORPHA:93409
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	860	RUNX2	OMIM:119600
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	860	RUNX2	OMIM:156510
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	27152	INTU	OMIM:617926
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57167	SALL4	ORPHA:959
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2316	FLNA	ORPHA:1826
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6885	MAP3K7	ORPHA:1826
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	658	BMPR1B	OMIM:616849
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5293	PIK3CD	ORPHA:221139
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	90417	KNSTRN	ORPHA:221139
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2778	GNAS	ORPHA:79445
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5727	PTCH1	OMIM:109400
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23019	CNOT1	ORPHA:556955
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7476	WNT7A	OMIM:276820
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7476	WNT7A	OMIM:228930
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8626	TP63	OMIM:605289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	80144	FRAS1	OMIM:219000
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2137	EXTL3	ORPHA:508533
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9361	LONP1	OMIM:600373
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4921	DDR2	OMIM:271665
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	64840	PORCN	OMIM:305600
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	54808	DYM	OMIM:607326
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4882	NPR2	OMIM:602875
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	63895	PIEZO2	OMIM:114300
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3590	IL11RA	OMIM:614188
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9401	RECQL4	ORPHA:221016
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5593	PRKG2	OMIM:619636
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55733	HHAT	OMIM:600092
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55733	HHAT	ORPHA:1422
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1302	COL11A2	OMIM:215150
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1302	COL11A2	ORPHA:1427
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3636	INPPL1	OMIM:258480
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	285590	SH3PXD2B	OMIM:249420
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9321	TRIP11	OMIM:184260
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1857	DVL3	OMIM:616894
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5130	PCYT1A	ORPHA:85167
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5139	PDE3A	ORPHA:1276
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5139	PDE3A	OMIM:112410
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	25782	RAB3GAP2	OMIM:212720
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3417	IDH1	ORPHA:99646
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9759	HDAC4	OMIM:600430
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4810	NHS	OMIM:302350
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23522	KAT6B	OMIM:606170
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	64131	XYLT1	OMIM:615777
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1788	DNMT3A	OMIM:618724
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3759	KCNJ2	OMIM:170390
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9939	RBM8A	OMIM:274000
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1807	DPYS	OMIM:222748
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5573	PRKAR1A	ORPHA:280651
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5573	PRKAR1A	OMIM:101800
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	633	BGN	OMIM:300106
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9509	ADAMTS2	OMIM:225410
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	375056	MIA3	OMIM:619269
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3977	LIFR	OMIM:601559
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9775	EIF4A3	OMIM:268305
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	54101	RIPK4	OMIM:263650
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	83452	RAB33B	OMIM:615222
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	91252	SLC39A13	OMIM:612350
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2200	FBN1	OMIM:102370
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2879	GPX4	OMIM:250220
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	64682	ANAPC1	ORPHA:221008
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9791	PTDSS1	OMIM:151050
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51715	RAB23	OMIM:201000
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9488	PIGB	OMIM:618580
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10617	STAMBP	OMIM:614261
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2335	FN1	ORPHA:93315
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23556	PIGN	ORPHA:2059
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23556	PIGN	OMIM:614080
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51412	ACTL6B	OMIM:618470
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57465	TBC1D24	OMIM:220500
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57465	TBC1D24	ORPHA:79500
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	613	BCR	ORPHA:261330
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1399	CRKL	ORPHA:261330
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5594	MAPK1	ORPHA:261330
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55784	MCTP2	ORPHA:1596
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5744	PTHLH	ORPHA:93387
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3764	KCNJ8	ORPHA:1517
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10060	ABCC9	ORPHA:1517
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10651	MTX2	ORPHA:90153
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57539	WDR35	ORPHA:1515
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57539	WDR35	OMIM:614091
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	112752	IFT43	ORPHA:1515
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51098	IFT52	ORPHA:1515
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51098	IFT52	OMIM:617102
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55764	IFT122	ORPHA:1515
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55764	IFT122	OMIM:218330
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57728	WDR19	ORPHA:1515
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57728	WDR19	OMIM:614378
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6926	TBX3	ORPHA:3138
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6595	SMARCA2	OMIM:619293
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4784	NFIX	OMIM:602535
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	24140	FTSJ1	OMIM:309549
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	54496	PRMT7	OMIM:617157
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9469	CHST3	OMIM:143095
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	64359	NXN	ORPHA:1507
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8289	ARID1A	OMIM:614607
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5566	PRKACA	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5567	PRKACB	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2735	GLI1	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2121	EVC	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	51626	DYNC2LI1	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	132884	EVC2	ORPHA:289
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9419	CRIPT	OMIM:615789
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4853	NOTCH2	ORPHA:955
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2239	GPC4	ORPHA:2662
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2239	GPC4	OMIM:312870
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	54	ACP5	ORPHA:1855
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6197	RPS6KA3	ORPHA:192
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5281	PIGF	OMIM:619356
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	94005	PIGS	OMIM:618143
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2677	GGCX	OMIM:277450
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10283	CWC27	OMIM:250410
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	415	ARSL	ORPHA:79345
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	415	ARSL	OMIM:302950
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2317	FLNB	ORPHA:503
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1311	COMP	OMIM:177170
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	25839	COG4	OMIM:618150
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	26137	ZBTB20	OMIM:259050
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	60401	EDA2R	ORPHA:181
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1896	EDA	ORPHA:181
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	28952	CCDC22	OMIM:300963
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	182	JAG1	OMIM:118450
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7291	TWIST1	OMIM:617746
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6605	SMARCE1	OMIM:616938
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3516	RBPJ	ORPHA:974
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3516	RBPJ	OMIM:614814
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4851	NOTCH1	ORPHA:974
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57514	ARHGAP31	ORPHA:974
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	285203	EOGT	ORPHA:974
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	54567	DLL4	ORPHA:974
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	50515	CHST11	OMIM:618167
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8242	KDM5C	OMIM:300534
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1186	CLCN7	ORPHA:53
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2702	GJA5	OMIM:612474
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2703	GJA8	OMIM:612474
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2719	GPC3	OMIM:312870
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6664	SOX11	OMIM:615866
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	25886	POC1A	OMIM:614813
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	865	CBFB	OMIM:620099
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2535	FZD2	OMIM:164745
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2535	FZD2	ORPHA:93328
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23476	BRD4	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9126	SMC3	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8243	SMC1A	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	25836	NIPBL	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55869	HDAC8	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5885	RAD21	ORPHA:199
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	90	ACVR1	OMIM:135100
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55215	FANCI	OMIM:609053
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	26040	SETBP1	OMIM:269150
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	26040	SETBP1	ORPHA:798
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	388015	RTL1	ORPHA:96334
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	8788	DLK1	ORPHA:96334
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55384	MEG3	ORPHA:96334
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3911	LAMA5	OMIM:620076
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	124583	CANT1	OMIM:251450
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7516	XRCC2	OMIM:617247
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2177	FANCD2	OMIM:227646
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	64327	LMBR1	ORPHA:93321
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6469	SHH	ORPHA:93321
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7204	TRIO	ORPHA:476126
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	4000	LMNA	OMIM:610140
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2261	FGFR3	ORPHA:15
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	2475	MTOR	OMIM:616638
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	3549	IHH	OMIM:607778
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	6662	SOX9	OMIM:114290
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1009	CDH11	OMIM:211380
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	7227	TRPS1	ORPHA:77258
HP:0006101	Finger syndactyly	2188	FANCF	OMIM:603467
HP:0006101	Finger syndactyly	50964	SOST	OMIM:269500
HP:0006101	Finger syndactyly	50964	SOST	ORPHA:3152
HP:0006101	Finger syndactyly	5307	PITX1	OMIM:186550
HP:0006101	Finger syndactyly	4038	LRP4	ORPHA:3152
HP:0006101	Finger syndactyly	6608	SMO	OMIM:601707
HP:0006101	Finger syndactyly	1001	CDH3	OMIM:225280
HP:0006101	Finger syndactyly	2263	FGFR2	OMIM:149730
HP:0006101	Finger syndactyly	2719	GPC3	OMIM:312870
HP:0006101	Finger syndactyly	2239	GPC4	OMIM:312870
HP:0006101	Finger syndactyly	51057	WDPCP	OMIM:217085
HP:0006101	Finger syndactyly	51057	WDPCP	ORPHA:1338
HP:0006101	Finger syndactyly	1147	CHUK	OMIM:619339
HP:0006101	Finger syndactyly	64840	PORCN	OMIM:305600
HP:0006101	Finger syndactyly	1947	EFNB1	OMIM:304110
HP:0006101	Finger syndactyly	79639	TMEM53	OMIM:619727
HP:0006101	Finger syndactyly	10586	MAB21L2	OMIM:615877
HP:0006101	Finger syndactyly	65250	CPLANE1	OMIM:614615
HP:0006101	Finger syndactyly	727857	BHLHA9	OMIM:609432
HP:0006101	Finger syndactyly	2261	FGFR3	ORPHA:794
HP:0006101	Finger syndactyly	2261	FGFR3	ORPHA:2363
HP:0006101	Finger syndactyly	7337	UBE3A	ORPHA:238446
HP:0006101	Finger syndactyly	341640	FREM2	ORPHA:2052
HP:0006101	Finger syndactyly	23426	GRIP1	ORPHA:2052
HP:0006101	Finger syndactyly	6910	TBX5	ORPHA:392
HP:0006101	Finger syndactyly	9759	HDAC4	ORPHA:1001
HP:0006101	Finger syndactyly	8854	ALDH1A2	OMIM:620025
HP:0006101	Finger syndactyly	8200	GDF5	ORPHA:3250
HP:0006101	Finger syndactyly	374654	KIF7	OMIM:200990
HP:0006101	Finger syndactyly	9790	BMS1	ORPHA:1114
HP:0006101	Finger syndactyly	5339	PLEC	ORPHA:1114
HP:0006101	Finger syndactyly	10054	UBA2	ORPHA:1114
HP:0006101	Finger syndactyly	3691	ITGB4	ORPHA:1114
HP:0006101	Finger syndactyly	54567	DLL4	ORPHA:1114
HP:0006101	Finger syndactyly	54567	DLL4	ORPHA:974
HP:0006101	Finger syndactyly	54101	RIPK4	ORPHA:1234
HP:0006101	Finger syndactyly	1750	DLX6	ORPHA:2440
HP:0006101	Finger syndactyly	7979	SEM1	ORPHA:2440
HP:0006101	Finger syndactyly	8945	BTRC	ORPHA:2440
HP:0006101	Finger syndactyly	58513	EPS15L1	ORPHA:2440
HP:0006101	Finger syndactyly	6468	FBXW4	ORPHA:2440
HP:0006101	Finger syndactyly	7480	WNT10B	ORPHA:2440
HP:0006101	Finger syndactyly	7480	WNT10B	OMIM:225300
HP:0006101	Finger syndactyly	1749	DLX5	ORPHA:2440
HP:0006101	Finger syndactyly	1717	DHCR7	ORPHA:818
HP:0006101	Finger syndactyly	23384	SPECC1L	ORPHA:1519
HP:0006101	Finger syndactyly	26128	KIFBP	ORPHA:66629
HP:0006101	Finger syndactyly	3764	KCNJ8	ORPHA:1517
HP:0006101	Finger syndactyly	10060	ABCC9	ORPHA:1517
HP:0006101	Finger syndactyly	150468	CKAP2L	ORPHA:3255
HP:0006101	Finger syndactyly	57539	WDR35	ORPHA:1515
HP:0006101	Finger syndactyly	112752	IFT43	ORPHA:1515
HP:0006101	Finger syndactyly	51098	IFT52	ORPHA:1515
HP:0006101	Finger syndactyly	55764	IFT122	ORPHA:1515
HP:0006101	Finger syndactyly	324	APC	ORPHA:3258
HP:0006101	Finger syndactyly	1500	CTNND1	ORPHA:1997
HP:0006101	Finger syndactyly	999	CDH1	ORPHA:1997
HP:0006101	Finger syndactyly	5980	REV3L	ORPHA:570
HP:0006101	Finger syndactyly	23129	PLXND1	ORPHA:570
HP:0006101	Finger syndactyly	7476	WNT7A	OMIM:228930
HP:0006101	Finger syndactyly	5925	RB1	ORPHA:1587
HP:0006101	Finger syndactyly	9968	MED12	ORPHA:93932
HP:0006101	Finger syndactyly	134701	RIPPLY2	ORPHA:2311
HP:0006101	Finger syndactyly	10683	DLL3	ORPHA:2311
HP:0006101	Finger syndactyly	3955	LFNG	ORPHA:2311
HP:0006101	Finger syndactyly	84667	HES7	ORPHA:2311
HP:0006101	Finger syndactyly	145873	MESP2	ORPHA:2311
HP:0006101	Finger syndactyly	81857	MED25	ORPHA:464738
HP:0006101	Finger syndactyly	64359	NXN	ORPHA:1507
HP:0006101	Finger syndactyly	672	BRCA1	ORPHA:84
HP:0006101	Finger syndactyly	10459	MAD2L2	ORPHA:84
HP:0006101	Finger syndactyly	7516	XRCC2	ORPHA:84
HP:0006101	Finger syndactyly	29089	UBE2T	ORPHA:84
HP:0006101	Finger syndactyly	675	BRCA2	ORPHA:84
HP:0006101	Finger syndactyly	55120	FANCL	ORPHA:84
HP:0006101	Finger syndactyly	2177	FANCD2	ORPHA:84
HP:0006101	Finger syndactyly	2175	FANCA	ORPHA:84
HP:0006101	Finger syndactyly	2187	FANCB	ORPHA:84
HP:0006101	Finger syndactyly	2176	FANCC	ORPHA:84
HP:0006101	Finger syndactyly	2178	FANCE	ORPHA:84
HP:0006101	Finger syndactyly	2189	FANCG	ORPHA:84
HP:0006101	Finger syndactyly	5888	RAD51	ORPHA:84
HP:0006101	Finger syndactyly	5889	RAD51C	ORPHA:84
HP:0006101	Finger syndactyly	55159	RFWD3	ORPHA:84
HP:0006101	Finger syndactyly	83990	BRIP1	ORPHA:84
HP:0006101	Finger syndactyly	57697	FANCM	ORPHA:84
HP:0006101	Finger syndactyly	79728	PALB2	ORPHA:84
HP:0006101	Finger syndactyly	84464	SLX4	ORPHA:84
HP:0006101	Finger syndactyly	2072	ERCC4	ORPHA:84
HP:0006101	Finger syndactyly	55215	FANCI	ORPHA:84
HP:0006101	Finger syndactyly	2260	FGFR1	ORPHA:93258
HP:0006101	Finger syndactyly	2260	FGFR1	OMIM:101600
HP:0006101	Finger syndactyly	64093	SMOC1	ORPHA:1106
HP:0006101	Finger syndactyly	8260	NAA10	ORPHA:568
HP:0006101	Finger syndactyly	54880	BCOR	ORPHA:568
HP:0006101	Finger syndactyly	652	BMP4	OMIM:607932
HP:0006101	Finger syndactyly	652	BMP4	ORPHA:139471
HP:0006101	Finger syndactyly	1501	CTNND2	ORPHA:281
HP:0006101	Finger syndactyly	9037	SEMA5A	ORPHA:281
HP:0006101	Finger syndactyly	57167	SALL4	ORPHA:959
HP:0006101	Finger syndactyly	51715	RAB23	ORPHA:65759
HP:0006101	Finger syndactyly	2313	FLI1	ORPHA:2308
HP:0006101	Finger syndactyly	26227	PHGDH	OMIM:256520
HP:0006101	Finger syndactyly	92482	BBIP1	ORPHA:110
HP:0006101	Finger syndactyly	80184	CEP290	ORPHA:110
HP:0006101	Finger syndactyly	11020	IFT27	ORPHA:110
HP:0006101	Finger syndactyly	582	BBS1	ORPHA:110
HP:0006101	Finger syndactyly	49855	SCAPER	ORPHA:110
HP:0006101	Finger syndactyly	4867	NPHP1	ORPHA:110
HP:0006101	Finger syndactyly	27241	BBS9	ORPHA:110
HP:0006101	Finger syndactyly	84984	CEP19	ORPHA:110
HP:0006101	Finger syndactyly	22954	TRIM32	ORPHA:110
HP:0006101	Finger syndactyly	54903	MKS1	ORPHA:110
HP:0006101	Finger syndactyly	79738	BBS10	ORPHA:110
HP:0006101	Finger syndactyly	123016	TTC8	ORPHA:110
HP:0006101	Finger syndactyly	26160	IFT172	ORPHA:110
HP:0006101	Finger syndactyly	583	BBS2	ORPHA:110
HP:0006101	Finger syndactyly	585	BBS4	ORPHA:110
HP:0006101	Finger syndactyly	8195	MKKS	ORPHA:110
HP:0006101	Finger syndactyly	8195	MKKS	ORPHA:2473
HP:0006101	Finger syndactyly	54585	LZTFL1	ORPHA:110
HP:0006101	Finger syndactyly	55212	BBS7	ORPHA:110
HP:0006101	Finger syndactyly	166379	BBS12	ORPHA:110
HP:0006101	Finger syndactyly	10806	SDCCAG8	ORPHA:110
HP:0006101	Finger syndactyly	157657	CFAP418	ORPHA:110
HP:0006101	Finger syndactyly	84100	ARL6	ORPHA:110
HP:0006101	Finger syndactyly	129880	BBS5	ORPHA:110
HP:0006101	Finger syndactyly	80173	IFT74	ORPHA:110
HP:0006101	Finger syndactyly	157680	VPS13B	ORPHA:193
HP:0006101	Finger syndactyly	1857	DVL3	ORPHA:3107
HP:0006101	Finger syndactyly	7474	WNT5A	ORPHA:3107
HP:0006101	Finger syndactyly	1855	DVL1	ORPHA:3107
HP:0006101	Finger syndactyly	2535	FZD2	ORPHA:3107
HP:0006101	Finger syndactyly	9508	ADAMTS3	ORPHA:2136
HP:0006101	Finger syndactyly	5290	PIK3CA	ORPHA:60040
HP:0006101	Finger syndactyly	91754	NEK9	ORPHA:64754
HP:0006101	Finger syndactyly	10908	PNPLA6	ORPHA:2377
HP:0006101	Finger syndactyly	2122	MECOM	ORPHA:71289
HP:0006101	Finger syndactyly	3207	HOXA11	ORPHA:71289
HP:0006101	Finger syndactyly	157570	ESCO2	ORPHA:3103
HP:0006101	Finger syndactyly	2317	FLNB	ORPHA:503
HP:0006101	Finger syndactyly	2317	FLNB	ORPHA:1263
HP:0006101	Finger syndactyly	5728	PTEN	ORPHA:744
HP:0006101	Finger syndactyly	207	AKT1	ORPHA:744
HP:0006101	Finger syndactyly	8517	IKBKG	ORPHA:464
HP:0006101	Finger syndactyly	6134	RPL10	ORPHA:435938
HP:0006101	Finger syndactyly	8314	BAP1	OMIM:619762
HP:0006101	Finger syndactyly	2255	FGF10	ORPHA:2363
HP:0006101	Finger syndactyly	3516	RBPJ	ORPHA:974
HP:0006101	Finger syndactyly	4851	NOTCH1	ORPHA:974
HP:0006101	Finger syndactyly	57514	ARHGAP31	ORPHA:974
HP:0006101	Finger syndactyly	57572	DOCK6	ORPHA:974
HP:0006101	Finger syndactyly	285203	EOGT	ORPHA:974
HP:0006101	Finger syndactyly	8241	RBM10	ORPHA:2886
HP:0006101	Finger syndactyly	2767	GNA11	ORPHA:1556
HP:0006101	Finger syndactyly	151188	ARL6IP6	ORPHA:1556
HP:0006101	Finger syndactyly	55612	FERMT1	ORPHA:2908
HP:0006101	Finger syndactyly	1146	CHRNG	ORPHA:2990
HP:0006101	Finger syndactyly	9939	RBM8A	ORPHA:3320
HP:0006101	Finger syndactyly	9939	RBM8A	OMIM:274000
HP:0006101	Finger syndactyly	8481	OFD1	ORPHA:2750
HP:0006101	Finger syndactyly	4750	NEK1	ORPHA:2751
HP:0006101	Finger syndactyly	26123	TCTN3	ORPHA:2753
HP:0006101	Finger syndactyly	10262	SF3B4	ORPHA:1788
HP:0006101	Finger syndactyly	64324	NSD1	ORPHA:3447
HP:0006101	Finger syndactyly	8726	EED	ORPHA:3447
HP:0006101	Finger syndactyly	23512	SUZ12	ORPHA:3447
HP:0006101	Finger syndactyly	2146	EZH2	ORPHA:3447
HP:0006101	Finger syndactyly	9897	WASHC5	ORPHA:7
HP:0006101	Finger syndactyly	28952	CCDC22	ORPHA:7
HP:0006101	Finger syndactyly	1723	DHODH	ORPHA:246
HP:0006101	Finger syndactyly	29968	PSAT1	OMIM:616038
HP:0006101	Finger syndactyly	2245	FGD1	ORPHA:915
HP:0006101	Finger syndactyly	9791	PTDSS1	OMIM:151050
HP:0006101	Finger syndactyly	4621	MYH3	OMIM:178110
HP:0006101	Finger syndactyly	63895	PIEZO2	OMIM:114300
HP:0006101	Finger syndactyly	4998	ORC1	OMIM:224690
HP:0006101	Finger syndactyly	22856	CHSY1	ORPHA:363417
HP:0006101	Finger syndactyly	5818	NECTIN1	OMIM:225060
HP:0006101	Finger syndactyly	9241	NOG	OMIM:611377
HP:0006101	Finger syndactyly	9241	NOG	OMIM:186500
HP:0006101	Finger syndactyly	23592	LEMD3	ORPHA:1306
HP:0006101	Finger syndactyly	147372	CCBE1	OMIM:235510
HP:0006101	Finger syndactyly	80144	FRAS1	OMIM:219000
HP:0006101	Finger syndactyly	1009	CDH11	OMIM:211380
HP:0006101	Finger syndactyly	5077	PAX3	OMIM:148820
HP:0006101	Finger syndactyly	5077	PAX3	ORPHA:896
HP:0006101	Finger syndactyly	3239	HOXD13	OMIM:186300
HP:0006101	Finger syndactyly	117581	TWIST2	OMIM:200110
HP:0006101	Finger syndactyly	4920	ROR2	OMIM:113000
HP:0006101	Finger syndactyly	26040	SETBP1	OMIM:616078
HP:0006101	Finger syndactyly	3664	IRF6	OMIM:119500
HP:0006101	Finger syndactyly	57728	WDR19	OMIM:614378
HP:0006101	Finger syndactyly	55012	PPP2R3C	OMIM:618419
HP:0006101	Finger syndactyly	1954	MEGF8	OMIM:614976
HP:0006101	Finger syndactyly	79633	FAT4	OMIM:615546
HP:0006101	Finger syndactyly	8642	DCHS1	OMIM:601390
HP:0006101	Finger syndactyly	50814	NSDHL	OMIM:308050
HP:0006101	Finger syndactyly	1832	DSP	ORPHA:158687
HP:0006101	Finger syndactyly	3728	JUP	ORPHA:158687
HP:0006101	Finger syndactyly	25914	RTTN	ORPHA:468631
HP:0006101	Finger syndactyly	23327	NEDD4L	OMIM:617201
HP:0006101	Finger syndactyly	64327	LMBR1	ORPHA:93405
HP:0006101	Finger syndactyly	64327	LMBR1	OMIM:186200
HP:0006101	Finger syndactyly	6469	SHH	ORPHA:93405
HP:0006101	Finger syndactyly	81607	NECTIN4	OMIM:613573
HP:0006101	Finger syndactyly	6299	SALL1	OMIM:107480
HP:0006101	Finger syndactyly	7291	TWIST1	OMIM:617746
HP:0006101	Finger syndactyly	8318	CDC45	OMIM:617063
HP:0006101	Finger syndactyly	2737	GLI3	ORPHA:672
HP:0006101	Finger syndactyly	284252	KCTD1	OMIM:181270
HP:0006101	Finger syndactyly	8626	TP63	ORPHA:69085
HP:0006101	Finger syndactyly	8294	H4C9	OMIM:619951
HP:0006101	Finger syndactyly	7994	KAT6A	OMIM:616268
HP:0006101	Finger syndactyly	775	CACNA1C	OMIM:620029
HP:0006101	Finger syndactyly	2697	GJA1	OMIM:257850
HP:0006059	Cone-shaped metacarpal epiphyses	3549	IHH	OMIM:607778
HP:0006059	Cone-shaped metacarpal epiphyses	3549	IHH	ORPHA:63446
HP:0006059	Cone-shaped metacarpal epiphyses	633	BGN	OMIM:300106
HP:0006059	Cone-shaped metacarpal epiphyses	2879	GPX4	OMIM:250220
HP:0006060	Tombstone-shaped proximal phalanges	2317	FLNB	OMIM:108721
HP:0009875	Triangular shaped distal phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009875	Triangular shaped distal phalanges of the hand	4921	DDR2	OMIM:271665
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	10765	KDM5B	OMIM:618109
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9487	PIGL	OMIM:280000
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3977	LIFR	OMIM:601559
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	10093	ARPC4	OMIM:620141
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	OMIM:112600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	OMIM:616849
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	OMIM:112600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	OMIM:615072
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:63442
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	650	BMP2	OMIM:112600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	650	BMP2	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4613	MYCN	ORPHA:391641
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7021	TFAP2B	ORPHA:46627
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3481	IGF2	OMIM:180860
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51199	NIN	ORPHA:319675
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51199	NIN	OMIM:614851
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7474	WNT5A	OMIM:180700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1855	DVL1	OMIM:180700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9241	NOG	OMIM:186500
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	22827	PUF60	ORPHA:508488
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3239	HOXD13	OMIM:186000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3239	HOXD13	ORPHA:93409
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	860	RUNX2	OMIM:119600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	860	RUNX2	OMIM:156510
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2623	GATA1	OMIM:190685
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2783	GNB2	OMIM:619503
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2697	GJA1	OMIM:164200
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5932	RBBP8	OMIM:251255
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	OMIM:606835
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	ORPHA:85169
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55777	MBD5	OMIM:156200
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1836	SLC26A2	OMIM:256050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5745	PTH1R	OMIM:600002
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2261	FGFR3	ORPHA:15
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5422	POLA1	OMIM:301030
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	652	BMP4	OMIM:607932
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3549	IHH	OMIM:607778
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3549	IHH	ORPHA:93388
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5144	PDE4D	ORPHA:439822
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8085	KMT2D	ORPHA:2322
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7403	KDM6A	ORPHA:2322
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	25871	NEPRO	OMIM:618853
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51053	GMNN	OMIM:616835
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5116	PCNT	OMIM:210720
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	22995	CEP152	OMIM:613823
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	57572	DOCK6	OMIM:614219
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55081	IFT57	OMIM:617927
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	407975	MIR17HG	ORPHA:391646
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4297	KMT2A	OMIM:605130
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2260	FGFR1	OMIM:101600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2263	FGFR2	OMIM:101600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	84295	PHF6	OMIM:301900
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3209	HOXA13	OMIM:140000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3209	HOXA13	ORPHA:2438
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	526	ATP6V1B2	OMIM:124480
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9742	IFT140	OMIM:266920
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2122	MECOM	OMIM:616738
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	27152	INTU	OMIM:617926
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	727857	BHLHA9	ORPHA:157801
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9791	PTDSS1	OMIM:151050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51715	RAB23	OMIM:201000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4000	LMNA	OMIM:610140
HP:0006064	Limited interphalangeal movement	57167	SALL4	OMIM:147750
HP:0006064	Limited interphalangeal movement	54332	GDAP1	ORPHA:99948
HP:0006064	Limited interphalangeal movement	2254	FGF9	OMIM:612961
HP:0006067	Multiple carpal ossification centers	9469	CHST3	OMIM:143095
HP:0006067	Multiple carpal ossification centers	2317	FLNB	OMIM:150250
HP:0005819	Short middle phalanx of finger	658	BMPR1B	OMIM:112600
HP:0005819	Short middle phalanx of finger	658	BMPR1B	OMIM:616849
HP:0005819	Short middle phalanx of finger	658	BMPR1B	ORPHA:93396
HP:0005819	Short middle phalanx of finger	650	BMP2	OMIM:112600
HP:0005819	Short middle phalanx of finger	650	BMP2	ORPHA:93396
HP:0005819	Short middle phalanx of finger	4920	ROR2	OMIM:268310
HP:0005819	Short middle phalanx of finger	4613	MYCN	ORPHA:391641
HP:0005819	Short middle phalanx of finger	7021	TFAP2B	ORPHA:46627
HP:0005819	Short middle phalanx of finger	3481	IGF2	OMIM:180860
HP:0005819	Short middle phalanx of finger	51199	NIN	ORPHA:319675
HP:0005819	Short middle phalanx of finger	51199	NIN	OMIM:614851
HP:0005819	Short middle phalanx of finger	7474	WNT5A	OMIM:180700
HP:0005819	Short middle phalanx of finger	1855	DVL1	OMIM:180700
HP:0005819	Short middle phalanx of finger	22827	PUF60	ORPHA:508488
HP:0005819	Short middle phalanx of finger	3239	HOXD13	OMIM:186000
HP:0005819	Short middle phalanx of finger	3239	HOXD13	ORPHA:93409
HP:0005819	Short middle phalanx of finger	10847	SRCAP	OMIM:136140
HP:0005819	Short middle phalanx of finger	860	RUNX2	OMIM:119600
HP:0005819	Short middle phalanx of finger	860	RUNX2	OMIM:156510
HP:0005819	Short middle phalanx of finger	2623	GATA1	OMIM:190685
HP:0005819	Short middle phalanx of finger	2783	GNB2	OMIM:619503
HP:0005819	Short middle phalanx of finger	2697	GJA1	OMIM:164200
HP:0005819	Short middle phalanx of finger	5932	RBBP8	OMIM:251255
HP:0005819	Short middle phalanx of finger	59341	TRPV4	OMIM:606835
HP:0005819	Short middle phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0005819	Short middle phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0005819	Short middle phalanx of finger	55777	MBD5	OMIM:156200
HP:0005819	Short middle phalanx of finger	1836	SLC26A2	OMIM:256050
HP:0005819	Short middle phalanx of finger	1300	COL10A1	OMIM:156500
HP:0005819	Short middle phalanx of finger	5745	PTH1R	OMIM:600002
HP:0005819	Short middle phalanx of finger	2261	FGFR3	ORPHA:15
HP:0005819	Short middle phalanx of finger	2261	FGFR3	OMIM:602849
HP:0005819	Short middle phalanx of finger	5422	POLA1	OMIM:301030
HP:0005819	Short middle phalanx of finger	9896	FIG4	ORPHA:3472
HP:0005819	Short middle phalanx of finger	55697	VAC14	ORPHA:3472
HP:0005819	Short middle phalanx of finger	652	BMP4	OMIM:607932
HP:0005819	Short middle phalanx of finger	3549	IHH	OMIM:607778
HP:0005819	Short middle phalanx of finger	3549	IHH	ORPHA:93388
HP:0005819	Short middle phalanx of finger	9742	IFT140	OMIM:266920
HP:0005819	Short middle phalanx of finger	5144	PDE4D	ORPHA:439822
HP:0005819	Short middle phalanx of finger	8085	KMT2D	ORPHA:2322
HP:0005819	Short middle phalanx of finger	7403	KDM6A	ORPHA:2322
HP:0005819	Short middle phalanx of finger	25871	NEPRO	OMIM:618853
HP:0005819	Short middle phalanx of finger	51053	GMNN	OMIM:616835
HP:0005819	Short middle phalanx of finger	5116	PCNT	OMIM:210720
HP:0005819	Short middle phalanx of finger	22995	CEP152	OMIM:613823
HP:0005819	Short middle phalanx of finger	57572	DOCK6	OMIM:614219
HP:0005819	Short middle phalanx of finger	55081	IFT57	OMIM:617927
HP:0005819	Short middle phalanx of finger	407975	MIR17HG	ORPHA:391646
HP:0005819	Short middle phalanx of finger	4297	KMT2A	OMIM:605130
HP:0005819	Short middle phalanx of finger	1280	COL2A1	OMIM:271700
HP:0005819	Short middle phalanx of finger	2260	FGFR1	OMIM:101600
HP:0005819	Short middle phalanx of finger	2263	FGFR2	OMIM:101600
HP:0005819	Short middle phalanx of finger	84295	PHF6	OMIM:301900
HP:0005819	Short middle phalanx of finger	3209	HOXA13	OMIM:140000
HP:0005819	Short middle phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0005819	Short middle phalanx of finger	9451	EIF2AK3	OMIM:226980
HP:0005819	Short middle phalanx of finger	9241	NOG	OMIM:186500
HP:0005819	Short middle phalanx of finger	8200	GDF5	OMIM:615072
HP:0005819	Short middle phalanx of finger	2122	MECOM	OMIM:616738
HP:0005819	Short middle phalanx of finger	27152	INTU	OMIM:617926
HP:0001216	Delayed ossification of carpal bones	5745	PTH1R	OMIM:600002
HP:0001216	Delayed ossification of carpal bones	9361	LONP1	OMIM:600373
HP:0001216	Delayed ossification of carpal bones	8720	MBTPS1	OMIM:618392
HP:0001216	Delayed ossification of carpal bones	59341	TRPV4	OMIM:184252
HP:0001216	Delayed ossification of carpal bones	3549	IHH	OMIM:607778
HP:0001216	Delayed ossification of carpal bones	633	BGN	OMIM:300106
HP:0001216	Delayed ossification of carpal bones	9321	TRIP11	OMIM:184260
HP:0001216	Delayed ossification of carpal bones	23233	EXOC6B	OMIM:618395
HP:0001216	Delayed ossification of carpal bones	2137	EXTL3	OMIM:617425
HP:0001216	Delayed ossification of carpal bones	55325	UFSP2	OMIM:617974
HP:0001216	Delayed ossification of carpal bones	6023	RMRP	OMIM:607095
HP:0001216	Delayed ossification of carpal bones	3209	HOXA13	OMIM:140000
HP:0001216	Delayed ossification of carpal bones	1280	COL2A1	ORPHA:93346
HP:0001216	Delayed ossification of carpal bones	865	CBFB	OMIM:620099
HP:0001216	Delayed ossification of carpal bones	4796	TONSL	OMIM:271510
HP:0001216	Delayed ossification of carpal bones	4148	MATN3	OMIM:607078
HP:0001216	Delayed ossification of carpal bones	55650	PIGV	OMIM:239300
HP:0006070	Metacarpophalangeal joint contracture	171023	ASXL1	ORPHA:97297
HP:0006070	Metacarpophalangeal joint contracture	11342	RNF13	ORPHA:544503
HP:0006070	Metacarpophalangeal joint contracture	2316	FLNA	ORPHA:1826
HP:0006070	Metacarpophalangeal joint contracture	6885	MAP3K7	ORPHA:1826
HP:0006070	Metacarpophalangeal joint contracture	29895	MYL11	OMIM:619110
HP:0009772	Patchy sclerosis of finger phalanx	2697	GJA1	OMIM:218400
HP:0009638	Short proximal phalanx of thumb	3549	IHH	OMIM:112500
HP:0009638	Short proximal phalanx of thumb	3549	IHH	OMIM:607778
HP:0009638	Short proximal phalanx of thumb	658	BMPR1B	OMIM:616849
HP:0010041	Short 3rd metacarpal	3930	LBR	OMIM:169400
HP:0010041	Short 3rd metacarpal	2316	FLNA	OMIM:311300
HP:0010041	Short 3rd metacarpal	374969	SVBP	OMIM:618569
HP:0010041	Short 3rd metacarpal	2778	GNAS	ORPHA:79443
HP:0010041	Short 3rd metacarpal	2778	GNAS	ORPHA:79444
HP:0009882	Short distal phalanx of finger	10236	HNRNPR	OMIM:620073
HP:0009882	Short distal phalanx of finger	57492	ARID1B	OMIM:135900
HP:0009882	Short distal phalanx of finger	3481	IGF2	OMIM:180860
HP:0009882	Short distal phalanx of finger	6598	SMARCB1	OMIM:614608
HP:0009882	Short distal phalanx of finger	84295	PHF6	OMIM:301900
HP:0009882	Short distal phalanx of finger	84992	PIGY	ORPHA:247262
HP:0009882	Short distal phalanx of finger	84992	PIGY	OMIM:616809
HP:0009882	Short distal phalanx of finger	84720	PIGO	ORPHA:247262
HP:0009882	Short distal phalanx of finger	84720	PIGO	OMIM:614749
HP:0009882	Short distal phalanx of finger	93210	PGAP3	ORPHA:247262
HP:0009882	Short distal phalanx of finger	93210	PGAP3	OMIM:615716
HP:0009882	Short distal phalanx of finger	284098	PIGW	ORPHA:247262
HP:0009882	Short distal phalanx of finger	27315	PGAP2	ORPHA:247262
HP:0009882	Short distal phalanx of finger	27315	PGAP2	OMIM:614207
HP:0009882	Short distal phalanx of finger	9487	PIGL	ORPHA:247262
HP:0009882	Short distal phalanx of finger	57020	VPS35L	OMIM:619135
HP:0009882	Short distal phalanx of finger	2972	BRF1	OMIM:616202
HP:0009882	Short distal phalanx of finger	29929	ALG6	ORPHA:79320
HP:0009882	Short distal phalanx of finger	5447	POR	ORPHA:95699
HP:0009882	Short distal phalanx of finger	57167	SALL4	ORPHA:959
HP:0009882	Short distal phalanx of finger	2316	FLNA	ORPHA:1826
HP:0009882	Short distal phalanx of finger	6885	MAP3K7	ORPHA:1826
HP:0009882	Short distal phalanx of finger	658	BMPR1B	OMIM:616849
HP:0009882	Short distal phalanx of finger	5293	PIK3CD	ORPHA:221139
HP:0009882	Short distal phalanx of finger	90417	KNSTRN	ORPHA:221139
HP:0009882	Short distal phalanx of finger	2778	GNAS	ORPHA:79445
HP:0009882	Short distal phalanx of finger	5727	PTCH1	OMIM:109400
HP:0009882	Short distal phalanx of finger	1280	COL2A1	OMIM:271700
HP:0009882	Short distal phalanx of finger	1280	COL2A1	ORPHA:93315
HP:0009882	Short distal phalanx of finger	1280	COL2A1	ORPHA:85166
HP:0009882	Short distal phalanx of finger	9488	PIGB	OMIM:618580
HP:0009882	Short distal phalanx of finger	10617	STAMBP	OMIM:614261
HP:0009882	Short distal phalanx of finger	8200	GDF5	OMIM:615072
HP:0009882	Short distal phalanx of finger	2335	FN1	ORPHA:93315
HP:0009882	Short distal phalanx of finger	23556	PIGN	ORPHA:2059
HP:0009882	Short distal phalanx of finger	23556	PIGN	OMIM:614080
HP:0009882	Short distal phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0009882	Short distal phalanx of finger	59341	TRPV4	OMIM:606835
HP:0009882	Short distal phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0009882	Short distal phalanx of finger	51412	ACTL6B	OMIM:618470
HP:0009882	Short distal phalanx of finger	9241	NOG	OMIM:184460
HP:0009882	Short distal phalanx of finger	9241	NOG	ORPHA:140908
HP:0009882	Short distal phalanx of finger	9241	NOG	OMIM:611377
HP:0009882	Short distal phalanx of finger	57465	TBC1D24	OMIM:220500
HP:0009882	Short distal phalanx of finger	57465	TBC1D24	ORPHA:79500
HP:0009882	Short distal phalanx of finger	613	BCR	ORPHA:261330
HP:0009882	Short distal phalanx of finger	1399	CRKL	ORPHA:261330
HP:0009882	Short distal phalanx of finger	5594	MAPK1	ORPHA:261330
HP:0009882	Short distal phalanx of finger	1855	DVL1	OMIM:616331
HP:0009882	Short distal phalanx of finger	55784	MCTP2	ORPHA:1596
HP:0009882	Short distal phalanx of finger	4000	LMNA	OMIM:248370
HP:0009882	Short distal phalanx of finger	4000	LMNA	ORPHA:90153
HP:0009882	Short distal phalanx of finger	5744	PTHLH	ORPHA:93387
HP:0009882	Short distal phalanx of finger	3239	HOXD13	ORPHA:93387
HP:0009882	Short distal phalanx of finger	3239	HOXD13	ORPHA:93406
HP:0009882	Short distal phalanx of finger	3239	HOXD13	OMIM:186300
HP:0009882	Short distal phalanx of finger	3764	KCNJ8	ORPHA:1517
HP:0009882	Short distal phalanx of finger	10060	ABCC9	ORPHA:1517
HP:0009882	Short distal phalanx of finger	10651	MTX2	ORPHA:90153
HP:0009882	Short distal phalanx of finger	57539	WDR35	ORPHA:1515
HP:0009882	Short distal phalanx of finger	57539	WDR35	OMIM:614091
HP:0009882	Short distal phalanx of finger	112752	IFT43	ORPHA:1515
HP:0009882	Short distal phalanx of finger	51098	IFT52	ORPHA:1515
HP:0009882	Short distal phalanx of finger	51098	IFT52	OMIM:617102
HP:0009882	Short distal phalanx of finger	55764	IFT122	ORPHA:1515
HP:0009882	Short distal phalanx of finger	55764	IFT122	OMIM:218330
HP:0009882	Short distal phalanx of finger	57728	WDR19	ORPHA:1515
HP:0009882	Short distal phalanx of finger	57728	WDR19	OMIM:614378
HP:0009882	Short distal phalanx of finger	10269	ZMPSTE24	ORPHA:90154
HP:0009882	Short distal phalanx of finger	6926	TBX3	ORPHA:3138
HP:0009882	Short distal phalanx of finger	55650	PIGV	OMIM:239300
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	ORPHA:2963
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	ORPHA:2095
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	OMIM:612289
HP:0009882	Short distal phalanx of finger	6595	SMARCA2	OMIM:619293
HP:0009882	Short distal phalanx of finger	4784	NFIX	OMIM:602535
HP:0009882	Short distal phalanx of finger	24140	FTSJ1	OMIM:309549
HP:0009882	Short distal phalanx of finger	54496	PRMT7	OMIM:617157
HP:0009882	Short distal phalanx of finger	3756	KCNH1	OMIM:135500
HP:0009882	Short distal phalanx of finger	3756	KCNH1	ORPHA:420561
HP:0009882	Short distal phalanx of finger	3756	KCNH1	OMIM:611816
HP:0009882	Short distal phalanx of finger	9469	CHST3	OMIM:143095
HP:0009882	Short distal phalanx of finger	64359	NXN	ORPHA:1507
HP:0009882	Short distal phalanx of finger	4920	ROR2	ORPHA:1507
HP:0009882	Short distal phalanx of finger	4920	ROR2	OMIM:268310
HP:0009882	Short distal phalanx of finger	8289	ARID1A	OMIM:614607
HP:0009882	Short distal phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0009882	Short distal phalanx of finger	5566	PRKACA	ORPHA:289
HP:0009882	Short distal phalanx of finger	5567	PRKACB	ORPHA:289
HP:0009882	Short distal phalanx of finger	2735	GLI1	ORPHA:289
HP:0009882	Short distal phalanx of finger	2121	EVC	ORPHA:289
HP:0009882	Short distal phalanx of finger	51626	DYNC2LI1	ORPHA:289
HP:0009882	Short distal phalanx of finger	132884	EVC2	ORPHA:289
HP:0009882	Short distal phalanx of finger	3549	IHH	OMIM:607778
HP:0009882	Short distal phalanx of finger	3549	IHH	OMIM:112500
HP:0009882	Short distal phalanx of finger	2475	MTOR	OMIM:616638
HP:0009882	Short distal phalanx of finger	5116	PCNT	OMIM:210720
HP:0009882	Short distal phalanx of finger	9419	CRIPT	OMIM:615789
HP:0009882	Short distal phalanx of finger	3782	KCNN3	OMIM:618658
HP:0009882	Short distal phalanx of finger	4853	NOTCH2	ORPHA:955
HP:0009882	Short distal phalanx of finger	26040	SETBP1	OMIM:269150
HP:0009882	Short distal phalanx of finger	26040	SETBP1	ORPHA:798
HP:0009882	Short distal phalanx of finger	2239	GPC4	ORPHA:2662
HP:0009882	Short distal phalanx of finger	2239	GPC4	OMIM:312870
HP:0009882	Short distal phalanx of finger	54	ACP5	ORPHA:1855
HP:0009882	Short distal phalanx of finger	6197	RPS6KA3	ORPHA:192
HP:0009882	Short distal phalanx of finger	1300	COL10A1	OMIM:156500
HP:0009882	Short distal phalanx of finger	5281	PIGF	OMIM:619356
HP:0009882	Short distal phalanx of finger	94005	PIGS	OMIM:618143
HP:0009882	Short distal phalanx of finger	2677	GGCX	OMIM:277450
HP:0009882	Short distal phalanx of finger	10283	CWC27	OMIM:250410
HP:0009882	Short distal phalanx of finger	415	ARSL	ORPHA:79345
HP:0009882	Short distal phalanx of finger	415	ARSL	OMIM:302950
HP:0009882	Short distal phalanx of finger	526	ATP6V1B2	ORPHA:79500
HP:0009882	Short distal phalanx of finger	2317	FLNB	ORPHA:503
HP:0009882	Short distal phalanx of finger	1311	COMP	OMIM:177170
HP:0009882	Short distal phalanx of finger	25839	COG4	OMIM:618150
HP:0009882	Short distal phalanx of finger	26137	ZBTB20	OMIM:259050
HP:0009882	Short distal phalanx of finger	60401	EDA2R	ORPHA:181
HP:0009882	Short distal phalanx of finger	1896	EDA	ORPHA:181
HP:0009882	Short distal phalanx of finger	5159	PDGFRB	OMIM:601812
HP:0009882	Short distal phalanx of finger	4256	MGP	ORPHA:85202
HP:0009882	Short distal phalanx of finger	4256	MGP	OMIM:245150
HP:0009882	Short distal phalanx of finger	28952	CCDC22	OMIM:300963
HP:0009882	Short distal phalanx of finger	182	JAG1	OMIM:118450
HP:0009882	Short distal phalanx of finger	7291	TWIST1	OMIM:617746
HP:0009882	Short distal phalanx of finger	6605	SMARCE1	OMIM:616938
HP:0009882	Short distal phalanx of finger	3516	RBPJ	ORPHA:974
HP:0009882	Short distal phalanx of finger	3516	RBPJ	OMIM:614814
HP:0009882	Short distal phalanx of finger	4851	NOTCH1	ORPHA:974
HP:0009882	Short distal phalanx of finger	57514	ARHGAP31	ORPHA:974
HP:0009882	Short distal phalanx of finger	57572	DOCK6	ORPHA:974
HP:0009882	Short distal phalanx of finger	285203	EOGT	ORPHA:974
HP:0009882	Short distal phalanx of finger	54567	DLL4	ORPHA:974
HP:0009882	Short distal phalanx of finger	50515	CHST11	OMIM:618167
HP:0009882	Short distal phalanx of finger	8242	KDM5C	OMIM:300534
HP:0009882	Short distal phalanx of finger	9896	FIG4	OMIM:216340
HP:0009882	Short distal phalanx of finger	1186	CLCN7	ORPHA:53
HP:0009882	Short distal phalanx of finger	2702	GJA5	OMIM:612474
HP:0009882	Short distal phalanx of finger	2703	GJA8	OMIM:612474
HP:0009882	Short distal phalanx of finger	2719	GPC3	OMIM:312870
HP:0009882	Short distal phalanx of finger	6664	SOX11	OMIM:615866
HP:0009882	Short distal phalanx of finger	55081	IFT57	OMIM:617927
HP:0009882	Short distal phalanx of finger	25886	POC1A	OMIM:614813
HP:0009882	Short distal phalanx of finger	865	CBFB	OMIM:620099
HP:0009882	Short distal phalanx of finger	7227	TRPS1	ORPHA:77258
HP:0006077	Absent proximal finger flexion creases	9241	NOG	OMIM:186500
HP:0006077	Absent proximal finger flexion creases	4233	MET	OMIM:620019
HP:0006077	Absent proximal finger flexion creases	6913	TBX15	OMIM:260660
HP:0001204	Distal symphalangism of hands	3549	IHH	OMIM:112500
HP:0001204	Distal symphalangism of hands	3549	IHH	ORPHA:93388
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:611377
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:186570
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:185800
HP:0001204	Distal symphalangism of hands	8200	GDF5	ORPHA:93388
HP:0001204	Distal symphalangism of hands	658	BMPR1B	ORPHA:93388
HP:0001204	Distal symphalangism of hands	7021	TFAP2B	OMIM:169100
HP:0009699	Osteolytic defects of the hand bones	1281	COL3A1	OMIM:130050
HP:0009699	Osteolytic defects of the hand bones	64135	IFIH1	OMIM:182250
HP:0009699	Osteolytic defects of the hand bones	54463	RETREG1	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	54463	RETREG1	OMIM:613115
HP:0009699	Osteolytic defects of the hand bones	65125	WNK1	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	6335	SCN9A	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	547	KIF1A	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	1075	CTSC	OMIM:245010
HP:0009699	Osteolytic defects of the hand bones	4921	DDR2	OMIM:618175
HP:0009699	Osteolytic defects of the hand bones	23586	RIGI	OMIM:616298
HP:0009699	Osteolytic defects of the hand bones	25923	ATL3	OMIM:615632
HP:0009699	Osteolytic defects of the hand bones	427	ASAH1	OMIM:228000
HP:0009699	Osteolytic defects of the hand bones	2316	FLNA	OMIM:309350
HP:0009699	Osteolytic defects of the hand bones	2316	FLNA	ORPHA:2484
HP:0009699	Osteolytic defects of the hand bones	4853	NOTCH2	OMIM:102500
HP:0009699	Osteolytic defects of the hand bones	3248	HPGD	OMIM:259100
HP:0009699	Osteolytic defects of the hand bones	1513	CTSK	ORPHA:763
HP:0009699	Osteolytic defects of the hand bones	1513	CTSK	OMIM:265800
HP:0009699	Osteolytic defects of the hand bones	4000	LMNA	ORPHA:740
HP:0009699	Osteolytic defects of the hand bones	4000	LMNA	OMIM:248370
HP:0009699	Osteolytic defects of the hand bones	4000	LMNA	ORPHA:90153
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	ORPHA:740
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	OMIM:608612
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	OMIM:275210
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	ORPHA:90154
HP:0009699	Osteolytic defects of the hand bones	8815	BANF1	OMIM:614008
HP:0009699	Osteolytic defects of the hand bones	10651	MTX2	ORPHA:90153
HP:0009699	Osteolytic defects of the hand bones	5159	PDGFRB	OMIM:601812
HP:0004209	Clinodactyly of the 5th finger	11253	MAN1B1	ORPHA:397941
HP:0004209	Clinodactyly of the 5th finger	11253	MAN1B1	OMIM:614202
HP:0004209	Clinodactyly of the 5th finger	340533	NEXMIF	OMIM:300912
HP:0004209	Clinodactyly of the 5th finger	1139	CHRNA7	ORPHA:199318
HP:0004209	Clinodactyly of the 5th finger	1139	CHRNA7	OMIM:612001
HP:0004209	Clinodactyly of the 5th finger	2132	EXT2	OMIM:616682
HP:0004209	Clinodactyly of the 5th finger	23135	KDM6B	OMIM:618505
HP:0004209	Clinodactyly of the 5th finger	6659	SOX4	OMIM:618506
HP:0004209	Clinodactyly of the 5th finger	1947	EFNB1	ORPHA:1520
HP:0004209	Clinodactyly of the 5th finger	1947	EFNB1	OMIM:304110
HP:0004209	Clinodactyly of the 5th finger	4010	LMX1B	ORPHA:2614
HP:0004209	Clinodactyly of the 5th finger	4010	LMX1B	OMIM:161200
HP:0004209	Clinodactyly of the 5th finger	10054	UBA2	OMIM:619959
HP:0004209	Clinodactyly of the 5th finger	51126	NAA20	OMIM:619717
HP:0004209	Clinodactyly of the 5th finger	2972	BRF1	OMIM:616202
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	OMIM:149730
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	OMIM:101400
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	9820	CUL7	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	9820	CUL7	OMIM:273750
HP:0004209	Clinodactyly of the 5th finger	23363	OBSL1	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	83987	CCDC8	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	83987	CCDC8	OMIM:614205
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	OMIM:617035
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:231140
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:231144
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	OMIM:616489
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	OMIM:180860
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	283120	H19	ORPHA:231140
HP:0004209	Clinodactyly of the 5th finger	283120	H19	ORPHA:231144
HP:0004209	Clinodactyly of the 5th finger	197131	UBR1	OMIM:243800
HP:0004209	Clinodactyly of the 5th finger	5932	RBBP8	OMIM:606744
HP:0004209	Clinodactyly of the 5th finger	5932	RBBP8	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	3021	H3-3B	OMIM:619721
HP:0004209	Clinodactyly of the 5th finger	126792	B3GALT6	ORPHA:2725
HP:0004209	Clinodactyly of the 5th finger	4286	MITF	OMIM:617306
HP:0004209	Clinodactyly of the 5th finger	23384	SPECC1L	ORPHA:1519
HP:0004209	Clinodactyly of the 5th finger	57539	WDR35	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	112752	IFT43	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	51098	IFT52	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	55764	IFT122	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	57728	WDR19	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	55636	CHD7	ORPHA:138
HP:0004209	Clinodactyly of the 5th finger	9723	SEMA3E	ORPHA:138
HP:0004209	Clinodactyly of the 5th finger	90	ACVR1	OMIM:135100
HP:0004209	Clinodactyly of the 5th finger	90	ACVR1	ORPHA:337
HP:0004209	Clinodactyly of the 5th finger	3190	HNRNPK	OMIM:616580
HP:0004209	Clinodactyly of the 5th finger	54880	BCOR	ORPHA:2712
HP:0004209	Clinodactyly of the 5th finger	54880	BCOR	ORPHA:568
HP:0004209	Clinodactyly of the 5th finger	10606	PAICS	OMIM:619859
HP:0004209	Clinodactyly of the 5th finger	1009	CDH11	OMIM:619736
HP:0004209	Clinodactyly of the 5th finger	64359	NXN	ORPHA:1507
HP:0004209	Clinodactyly of the 5th finger	4920	ROR2	ORPHA:1507
HP:0004209	Clinodactyly of the 5th finger	2697	GJA1	ORPHA:2710
HP:0004209	Clinodactyly of the 5th finger	7020	TFAP2A	OMIM:113620
HP:0004209	Clinodactyly of the 5th finger	727857	BHLHA9	ORPHA:157801
HP:0004209	Clinodactyly of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004209	Clinodactyly of the 5th finger	652	BMP4	OMIM:607932
HP:0004209	Clinodactyly of the 5th finger	4297	KMT2A	ORPHA:319182
HP:0004209	Clinodactyly of the 5th finger	4297	KMT2A	OMIM:605130
HP:0004209	Clinodactyly of the 5th finger	1301	COL11A1	OMIM:228520
HP:0004209	Clinodactyly of the 5th finger	1301	COL11A1	OMIM:154780
HP:0004209	Clinodactyly of the 5th finger	23327	NEDD4L	OMIM:617201
HP:0004209	Clinodactyly of the 5th finger	7291	TWIST1	OMIM:101400
HP:0004209	Clinodactyly of the 5th finger	7291	TWIST1	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	2783	GNB2	OMIM:619503
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	ORPHA:235
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	ORPHA:99812
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	OMIM:606593
HP:0004209	Clinodactyly of the 5th finger	54888	NSUN2	ORPHA:235
HP:0004209	Clinodactyly of the 5th finger	1182	CLCN3	OMIM:619512
HP:0004209	Clinodactyly of the 5th finger	85301	COL27A1	OMIM:615155
HP:0004209	Clinodactyly of the 5th finger	5048	PAFAH1B1	ORPHA:217385
HP:0004209	Clinodactyly of the 5th finger	5048	PAFAH1B1	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	7531	YWHAE	ORPHA:217385
HP:0004209	Clinodactyly of the 5th finger	7531	YWHAE	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	2121	EVC	OMIM:193530
HP:0004209	Clinodactyly of the 5th finger	2121	EVC	ORPHA:952
HP:0004209	Clinodactyly of the 5th finger	132884	EVC2	OMIM:193530
HP:0004209	Clinodactyly of the 5th finger	132884	EVC2	ORPHA:952
HP:0004209	Clinodactyly of the 5th finger	8364	H4C3	OMIM:619758
HP:0004209	Clinodactyly of the 5th finger	5590	PRKCZ	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	2563	GABRD	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	23013	SPEN	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	8510	MMP23B	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	7798	LUZP1	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	6497	SKI	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	10630	PDPN	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	3339	HSPG2	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	10277	UBE4B	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	8514	KCNAB2	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	473	RERE	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	473	RERE	OMIM:616975
HP:0004209	Clinodactyly of the 5th finger	63976	PRDM16	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	54897	CASZ1	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	6134	RPL10	ORPHA:459070
HP:0004209	Clinodactyly of the 5th finger	6134	RPL10	OMIM:300998
HP:0004209	Clinodactyly of the 5th finger	7750	ZMYM2	OMIM:619522
HP:0004209	Clinodactyly of the 5th finger	4849	CNOT3	OMIM:618672
HP:0004209	Clinodactyly of the 5th finger	6942	TCF20	OMIM:618430
HP:0004209	Clinodactyly of the 5th finger	641	BLM	OMIM:210900
HP:0004209	Clinodactyly of the 5th finger	57492	ARID1B	ORPHA:251056
HP:0004209	Clinodactyly of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004209	Clinodactyly of the 5th finger	63895	PIEZO2	ORPHA:376
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:576283
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:251028
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:251019
HP:0004209	Clinodactyly of the 5th finger	2239	GPC4	ORPHA:373
HP:0004209	Clinodactyly of the 5th finger	2239	GPC4	ORPHA:2662
HP:0004209	Clinodactyly of the 5th finger	2719	GPC3	ORPHA:373
HP:0004209	Clinodactyly of the 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:615298
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:3250
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93384
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:113100
HP:0004209	Clinodactyly of the 5th finger	23483	TGDS	OMIM:616145
HP:0004209	Clinodactyly of the 5th finger	23483	TGDS	ORPHA:1388
HP:0004209	Clinodactyly of the 5th finger	57479	PRR12	OMIM:619539
HP:0004209	Clinodactyly of the 5th finger	25836	NIPBL	OMIM:122470
HP:0004209	Clinodactyly of the 5th finger	25836	NIPBL	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	2317	FLNB	OMIM:272460
HP:0004209	Clinodactyly of the 5th finger	79087	ALG12	ORPHA:79324
HP:0004209	Clinodactyly of the 5th finger	6473	SHOX	ORPHA:240
HP:0004209	Clinodactyly of the 5th finger	1387	CREBBP	OMIM:618332
HP:0004209	Clinodactyly of the 5th finger	1387	CREBBP	OMIM:180849
HP:0004209	Clinodactyly of the 5th finger	26100	WIPI2	OMIM:618453
HP:0004209	Clinodactyly of the 5th finger	10533	ATG7	OMIM:619422
HP:0004209	Clinodactyly of the 5th finger	8295	TRRAP	OMIM:618454
HP:0004209	Clinodactyly of the 5th finger	9742	IFT140	OMIM:266920
HP:0004209	Clinodactyly of the 5th finger	7227	TRPS1	ORPHA:77258
HP:0004209	Clinodactyly of the 5th finger	2261	FGFR3	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	9949	AMMECR1	OMIM:300990
HP:0004209	Clinodactyly of the 5th finger	3479	IGF1	ORPHA:73272
HP:0004209	Clinodactyly of the 5th finger	3479	IGF1	OMIM:608747
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93384
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	OMIM:616849
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	OMIM:617877
HP:0004209	Clinodactyly of the 5th finger	22827	PUF60	ORPHA:508498
HP:0004209	Clinodactyly of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004209	Clinodactyly of the 5th finger	6477	SIAH1	OMIM:619314
HP:0004209	Clinodactyly of the 5th finger	8473	OGT	OMIM:300997
HP:0004209	Clinodactyly of the 5th finger	10785	WDR4	OMIM:618347
HP:0004209	Clinodactyly of the 5th finger	1798	DPAGT1	OMIM:608093
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	ORPHA:353298
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	OMIM:226960
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	OMIM:616651
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	ORPHA:2636
HP:0004209	Clinodactyly of the 5th finger	55869	HDAC8	OMIM:300882
HP:0004209	Clinodactyly of the 5th finger	55869	HDAC8	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	117581	TWIST2	OMIM:200110
HP:0004209	Clinodactyly of the 5th finger	117581	TWIST2	OMIM:209885
HP:0004209	Clinodactyly of the 5th finger	23030	KDM4B	OMIM:619320
HP:0004209	Clinodactyly of the 5th finger	9126	SMC3	OMIM:610759
HP:0004209	Clinodactyly of the 5th finger	9126	SMC3	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	1725	DHPS	OMIM:618480
HP:0004209	Clinodactyly of the 5th finger	55777	MBD5	OMIM:156200
HP:0004209	Clinodactyly of the 5th finger	55777	MBD5	ORPHA:228402
HP:0004209	Clinodactyly of the 5th finger	5980	REV3L	ORPHA:570
HP:0004209	Clinodactyly of the 5th finger	23129	PLXND1	ORPHA:570
HP:0004209	Clinodactyly of the 5th finger	4784	NFIX	OMIM:602535
HP:0004209	Clinodactyly of the 5th finger	4998	ORC1	OMIM:224690
HP:0004209	Clinodactyly of the 5th finger	4998	ORC1	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	4052	LTBP1	OMIM:619451
HP:0004209	Clinodactyly of the 5th finger	8260	NAA10	OMIM:300855
HP:0004209	Clinodactyly of the 5th finger	8260	NAA10	ORPHA:568
HP:0004209	Clinodactyly of the 5th finger	7468	NSD2	OMIM:619695
HP:0004209	Clinodactyly of the 5th finger	9496	TBX4	ORPHA:261279
HP:0004209	Clinodactyly of the 5th finger	8091	HMGA2	ORPHA:94063
HP:0004209	Clinodactyly of the 5th finger	8091	HMGA2	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	23592	LEMD3	ORPHA:94063
HP:0004209	Clinodactyly of the 5th finger	164	AP1G1	OMIM:619467
HP:0004209	Clinodactyly of the 5th finger	5283	PIGH	OMIM:618010
HP:0004209	Clinodactyly of the 5th finger	50801	KCNK4	OMIM:618381
HP:0004209	Clinodactyly of the 5th finger	9757	KMT2B	ORPHA:589618
HP:0004209	Clinodactyly of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004209	Clinodactyly of the 5th finger	57003	CCDC47	OMIM:618268
HP:0004209	Clinodactyly of the 5th finger	8812	CCNK	OMIM:618147
HP:0004209	Clinodactyly of the 5th finger	5977	DPF2	OMIM:618027
HP:0004209	Clinodactyly of the 5th finger	29895	MYL11	OMIM:619110
HP:0004209	Clinodactyly of the 5th finger	94005	PIGS	OMIM:618143
HP:0004209	Clinodactyly of the 5th finger	145173	B3GLCT	OMIM:261540
HP:0004209	Clinodactyly of the 5th finger	145173	B3GLCT	ORPHA:709
HP:0004209	Clinodactyly of the 5th finger	2033	EP300	OMIM:180849
HP:0004209	Clinodactyly of the 5th finger	92002	CCNQ	OMIM:300707
HP:0004209	Clinodactyly of the 5th finger	92002	CCNQ	ORPHA:140952
HP:0004209	Clinodactyly of the 5th finger	285590	SH3PXD2B	ORPHA:137834
HP:0004209	Clinodactyly of the 5th finger	80036	TRPM3	OMIM:620224
HP:0004209	Clinodactyly of the 5th finger	526	ATP6V1B2	ORPHA:79500
HP:0004209	Clinodactyly of the 5th finger	57465	TBC1D24	ORPHA:79500
HP:0004209	Clinodactyly of the 5th finger	57465	TBC1D24	OMIM:220500
HP:0004209	Clinodactyly of the 5th finger	5728	PTEN	ORPHA:744
HP:0004209	Clinodactyly of the 5th finger	207	AKT1	ORPHA:744
HP:0004209	Clinodactyly of the 5th finger	2887	GRB10	ORPHA:96182
HP:0004209	Clinodactyly of the 5th finger	1457	CSNK2A1	OMIM:617062
HP:0004209	Clinodactyly of the 5th finger	7204	TRIO	OMIM:617061
HP:0004209	Clinodactyly of the 5th finger	7204	TRIO	ORPHA:476126
HP:0004209	Clinodactyly of the 5th finger	51715	RAB23	OMIM:201000
HP:0004209	Clinodactyly of the 5th finger	28952	CCDC22	OMIM:300963
HP:0004209	Clinodactyly of the 5th finger	90416	CCDC32	OMIM:619123
HP:0004209	Clinodactyly of the 5th finger	8450	CUL4B	ORPHA:85293
HP:0004209	Clinodactyly of the 5th finger	55717	WDR11	OMIM:620237
HP:0004209	Clinodactyly of the 5th finger	6299	SALL1	ORPHA:857
HP:0004209	Clinodactyly of the 5th finger	51339	DACT1	ORPHA:857
HP:0004209	Clinodactyly of the 5th finger	118924	FRA10AC1	OMIM:620113
HP:0004209	Clinodactyly of the 5th finger	22995	CEP152	OMIM:613823
HP:0004209	Clinodactyly of the 5th finger	22995	CEP152	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	3549	IHH	OMIM:112500
HP:0004209	Clinodactyly of the 5th finger	3549	IHH	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	3090	HIC1	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	10436	EMG1	OMIM:211180
HP:0004209	Clinodactyly of the 5th finger	10436	EMG1	ORPHA:1270
HP:0004209	Clinodactyly of the 5th finger	23387	SIK3	OMIM:618162
HP:0004209	Clinodactyly of the 5th finger	10084	PQBP1	OMIM:309500
HP:0004209	Clinodactyly of the 5th finger	5745	PTH1R	OMIM:156400
HP:0004209	Clinodactyly of the 5th finger	89970	RSPRY1	ORPHA:457395
HP:0004209	Clinodactyly of the 5th finger	9487	PIGL	OMIM:280000
HP:0004209	Clinodactyly of the 5th finger	22800	RRAS2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	867	CBL	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	8216	LZTR1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6016	RIT1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6237	RRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5894	RAF1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	22808	MRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	3845	KRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	200734	SPRED2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	4893	NRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6654	SOS1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6655	SOS2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5781	PTPN11	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5922	RASA2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	23522	KAT6B	ORPHA:3047
HP:0004209	Clinodactyly of the 5th finger	6913	TBX15	OMIM:260660
HP:0004209	Clinodactyly of the 5th finger	79023	NUP37	OMIM:618179
HP:0004209	Clinodactyly of the 5th finger	375056	MIA3	OMIM:619269
HP:0004209	Clinodactyly of the 5th finger	27161	AGO2	OMIM:619149
HP:0004209	Clinodactyly of the 5th finger	5567	PRKACB	OMIM:619143
HP:0004209	Clinodactyly of the 5th finger	221927	BRAT1	OMIM:618056
HP:0004209	Clinodactyly of the 5th finger	8823	FGF16	OMIM:309630
HP:0004209	Clinodactyly of the 5th finger	5518	PPP2R1A	ORPHA:457284
HP:0004209	Clinodactyly of the 5th finger	161742	SPRED1	ORPHA:137605
HP:0004209	Clinodactyly of the 5th finger	7337	UBE3A	ORPHA:238446
HP:0004209	Clinodactyly of the 5th finger	1832	DSP	ORPHA:158687
HP:0004209	Clinodactyly of the 5th finger	1832	DSP	OMIM:609638
HP:0004209	Clinodactyly of the 5th finger	3728	JUP	ORPHA:158687
HP:0004209	Clinodactyly of the 5th finger	23241	PACS2	OMIM:618067
HP:0004209	Clinodactyly of the 5th finger	26128	KIFBP	OMIM:609460
HP:0004209	Clinodactyly of the 5th finger	23556	PIGN	ORPHA:2059
HP:0004209	Clinodactyly of the 5th finger	5885	RAD21	OMIM:614701
HP:0004209	Clinodactyly of the 5th finger	5885	RAD21	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	673	BRAF	OMIM:115150
HP:0004209	Clinodactyly of the 5th finger	7518	XRCC4	ORPHA:99812
HP:0004209	Clinodactyly of the 5th finger	3209	HOXA13	OMIM:140000
HP:0004209	Clinodactyly of the 5th finger	3209	HOXA13	ORPHA:2438
HP:0004209	Clinodactyly of the 5th finger	8854	ALDH1A2	OMIM:620025
HP:0004209	Clinodactyly of the 5th finger	10274	STAG1	ORPHA:502434
HP:0004209	Clinodactyly of the 5th finger	9241	NOG	ORPHA:3250
HP:0004209	Clinodactyly of the 5th finger	9241	NOG	OMIM:186500
HP:0004209	Clinodactyly of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004209	Clinodactyly of the 5th finger	3239	HOXD13	ORPHA:93406
HP:0004209	Clinodactyly of the 5th finger	374654	KIF7	OMIM:200990
HP:0004209	Clinodactyly of the 5th finger	613	BCR	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	1399	CRKL	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	5594	MAPK1	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	89910	UBE3B	OMIM:244450
HP:0004209	Clinodactyly of the 5th finger	2314	FLII	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	23096	IQSEC2	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	10743	RAI1	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	10522	DEAF1	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	150468	CKAP2L	ORPHA:3255
HP:0004209	Clinodactyly of the 5th finger	6595	SMARCA2	OMIM:619293
HP:0004209	Clinodactyly of the 5th finger	672	BRCA1	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	10459	MAD2L2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	7516	XRCC2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	29089	UBE2T	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	675	BRCA2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55120	FANCL	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2177	FANCD2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2175	FANCA	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2187	FANCB	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2176	FANCC	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2178	FANCE	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2188	FANCF	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2189	FANCG	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	5888	RAD51	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	5889	RAD51C	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55159	RFWD3	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	83990	BRIP1	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	57697	FANCM	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	79728	PALB2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	84464	SLX4	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2072	ERCC4	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55215	FANCI	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	546	ATRX	ORPHA:847
HP:0004209	Clinodactyly of the 5th finger	84823	LMNB2	OMIM:619180
HP:0004209	Clinodactyly of the 5th finger	9184	BUB3	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	699	BUB1	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	699	BUB1	OMIM:620183
HP:0004209	Clinodactyly of the 5th finger	9702	CEP57	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	9702	CEP57	OMIM:614114
HP:0004209	Clinodactyly of the 5th finger	9319	TRIP13	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	701	BUB1B	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	54476	RNF216	ORPHA:1173
HP:0004209	Clinodactyly of the 5th finger	10908	PNPLA6	ORPHA:1173
HP:0004209	Clinodactyly of the 5th finger	23036	ZNF292	OMIM:619188
HP:0004209	Clinodactyly of the 5th finger	51199	NIN	OMIM:614851
HP:0004209	Clinodactyly of the 5th finger	51199	NIN	ORPHA:319675
HP:0004209	Clinodactyly of the 5th finger	1954	MEGF8	OMIM:614976
HP:0004209	Clinodactyly of the 5th finger	25942	SIN3A	OMIM:613406
HP:0004209	Clinodactyly of the 5th finger	4953	ODC1	OMIM:619075
HP:0004209	Clinodactyly of the 5th finger	4953	ODC1	ORPHA:544488
HP:0004209	Clinodactyly of the 5th finger	1857	DVL3	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	7474	WNT5A	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	1855	DVL1	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	2535	FZD2	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	2535	FZD2	OMIM:164745
HP:0004209	Clinodactyly of the 5th finger	26053	AUTS2	OMIM:615834
HP:0004209	Clinodactyly of the 5th finger	6804	STX1A	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	7461	CLIP2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	84277	DNAJC30	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	8468	FKBP6	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	5982	RFC2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2969	GTF2I	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	3984	LIMK1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	9569	GTF2IRD1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	155382	VPS37D	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	155368	METTL27	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	114049	BUD23	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	7458	EIF4H	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	84163	GTF2IRD2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	9275	BCL7B	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	26608	TBL2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	653361	NCF1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	135886	TMEM270	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	51085	MLXIPL	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	51085	MLXIPL	OMIM:194050
HP:0004209	Clinodactyly of the 5th finger	9031	BAZ1B	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2006	ELN	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2006	ELN	OMIM:194050
HP:0004209	Clinodactyly of the 5th finger	2122	MECOM	ORPHA:71289
HP:0004209	Clinodactyly of the 5th finger	3207	HOXA11	ORPHA:71289
HP:0004209	Clinodactyly of the 5th finger	3207	HOXA11	OMIM:605432
HP:0004209	Clinodactyly of the 5th finger	81031	SLC2A10	ORPHA:3342
HP:0004209	Clinodactyly of the 5th finger	55165	CEP55	OMIM:236500
HP:0004209	Clinodactyly of the 5th finger	157570	ESCO2	ORPHA:3103
HP:0004209	Clinodactyly of the 5th finger	84992	PIGY	OMIM:616809
HP:0004209	Clinodactyly of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004209	Clinodactyly of the 5th finger	4094	MAF	ORPHA:1272
HP:0004209	Clinodactyly of the 5th finger	6628	SNRPB	ORPHA:1393
HP:0004209	Clinodactyly of the 5th finger	6628	SNRPB	OMIM:117650
HP:0004209	Clinodactyly of the 5th finger	1028	CDKN1C	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	5324	PLAG1	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	9555	MACROH2A1	ORPHA:1275
HP:0004209	Clinodactyly of the 5th finger	5307	PITX1	ORPHA:1275
HP:0004209	Clinodactyly of the 5th finger	5422	POLA1	ORPHA:163976
HP:0004209	Clinodactyly of the 5th finger	5422	POLA1	OMIM:301030
HP:0004209	Clinodactyly of the 5th finger	55906	ZC4H2	ORPHA:3454
HP:0004209	Clinodactyly of the 5th finger	10430	TMEM147	OMIM:620075
HP:0004209	Clinodactyly of the 5th finger	3187	HNRNPH1	OMIM:620083
HP:0004209	Clinodactyly of the 5th finger	2626	GATA4	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	2626	GATA4	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	23414	ZFPM2	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	23414	ZFPM2	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	1482	NKX2-5	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	1482	NKX2-5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	182	JAG1	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	182	JAG1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	6899	TBX1	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	6899	TBX1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2627	GATA6	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	2627	GATA6	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	545	ATR	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	545	ATR	OMIM:210600
HP:0004209	Clinodactyly of the 5th finger	1062	CENPE	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	OMIM:210720
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	ORPHA:2637
HP:0004209	Clinodactyly of the 5th finger	79902	NUP85	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	84126	ATRIP	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	55835	CENPJ	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	10293	TRAIP	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	10733	PLK4	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	9939	RBM8A	ORPHA:3320
HP:0004209	Clinodactyly of the 5th finger	9939	RBM8A	OMIM:274000
HP:0004209	Clinodactyly of the 5th finger	55023	PHIP	ORPHA:589905
HP:0004209	Clinodactyly of the 5th finger	55023	PHIP	OMIM:617991
HP:0004209	Clinodactyly of the 5th finger	8626	TP63	ORPHA:69085
HP:0004209	Clinodactyly of the 5th finger	29123	ANKRD11	OMIM:148050
HP:0004209	Clinodactyly of the 5th finger	9775	EIF4A3	OMIM:268305
HP:0004209	Clinodactyly of the 5th finger	2702	GJA5	OMIM:612474
HP:0004209	Clinodactyly of the 5th finger	2702	GJA5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2703	GJA8	OMIM:612474
HP:0004209	Clinodactyly of the 5th finger	3897	L1CAM	ORPHA:2466
HP:0004209	Clinodactyly of the 5th finger	4208	MEF2C	OMIM:613443
HP:0004209	Clinodactyly of the 5th finger	55690	PACS1	ORPHA:329224
HP:0004209	Clinodactyly of the 5th finger	2245	FGD1	ORPHA:915
HP:0004209	Clinodactyly of the 5th finger	9230	RAB11B	OMIM:617807
HP:0004209	Clinodactyly of the 5th finger	22856	CHSY1	ORPHA:363417
HP:0004209	Clinodactyly of the 5th finger	51621	KLF13	OMIM:612001
HP:0004209	Clinodactyly of the 5th finger	5648	MASP1	OMIM:257920
HP:0004209	Clinodactyly of the 5th finger	23394	ADNP	OMIM:615873
HP:0004209	Clinodactyly of the 5th finger	9759	HDAC4	ORPHA:1001
HP:0004209	Clinodactyly of the 5th finger	11133	KPTN	OMIM:615637
HP:0004209	Clinodactyly of the 5th finger	11133	KPTN	ORPHA:397612
HP:0004209	Clinodactyly of the 5th finger	85358	SHANK3	OMIM:606232
HP:0004209	Clinodactyly of the 5th finger	85358	SHANK3	ORPHA:48652
HP:0004209	Clinodactyly of the 5th finger	23028	KDM1A	OMIM:616728
HP:0004209	Clinodactyly of the 5th finger	23028	KDM1A	ORPHA:477993
HP:0004209	Clinodactyly of the 5th finger	137814	NKX2-6	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	3791	KDR	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2657	GDF1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	140628	GATA5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2324	FLT4	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	10370	CITED2	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2334	AFF2	ORPHA:100973
HP:0004209	Clinodactyly of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004209	Clinodactyly of the 5th finger	10982	MAPRE2	OMIM:616734
HP:0004209	Clinodactyly of the 5th finger	4131	MAP1B	OMIM:618918
HP:0004209	Clinodactyly of the 5th finger	54808	DYM	OMIM:223800
HP:0004209	Clinodactyly of the 5th finger	84679	SLC9A7	OMIM:301024
HP:0004209	Clinodactyly of the 5th finger	10735	STAG2	OMIM:301022
HP:0004209	Clinodactyly of the 5th finger	10265	IRX5	OMIM:611174
HP:0004209	Clinodactyly of the 5th finger	5925	RB1	ORPHA:1587
HP:0004209	Clinodactyly of the 5th finger	7874	USP7	OMIM:616863
HP:0004209	Clinodactyly of the 5th finger	3759	KCNJ2	OMIM:170390
HP:0004209	Clinodactyly of the 5th finger	81620	CDT1	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	5000	ORC4	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	23594	ORC6	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	8318	CDC45	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	990	CDC6	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	51053	GMNN	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	64093	SMOC1	ORPHA:1106
HP:0004209	Clinodactyly of the 5th finger	25	ABL1	OMIM:617602
HP:0004209	Clinodactyly of the 5th finger	83696	TRAPPC9	ORPHA:352530
HP:0004209	Clinodactyly of the 5th finger	860	RUNX2	ORPHA:1452
HP:0004209	Clinodactyly of the 5th finger	29980	DONSON	OMIM:617604
HP:0004209	Clinodactyly of the 5th finger	6638	SNRPN	ORPHA:177907
HP:0004209	Clinodactyly of the 5th finger	23476	BRD4	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	8243	SMC1A	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	10664	CTCF	ORPHA:363611
HP:0004209	Clinodactyly of the 5th finger	157680	VPS13B	ORPHA:193
HP:0004209	Clinodactyly of the 5th finger	22931	RAB18	OMIM:614222
HP:0004209	Clinodactyly of the 5th finger	9894	TELO2	ORPHA:488642
HP:0004209	Clinodactyly of the 5th finger	490	ATP2B1	OMIM:619910
HP:0004209	Clinodactyly of the 5th finger	8405	SPOP	OMIM:618828
HP:0004209	Clinodactyly of the 5th finger	8405	SPOP	OMIM:618829
HP:0004209	Clinodactyly of the 5th finger	284252	KCTD1	OMIM:181270
HP:0004209	Clinodactyly of the 5th finger	54870	QRICH1	OMIM:617982
HP:0004209	Clinodactyly of the 5th finger	139285	AMER1	OMIM:300373
HP:0004209	Clinodactyly of the 5th finger	4841	NONO	ORPHA:466791
HP:0004209	Clinodactyly of the 5th finger	1663	DDX11	OMIM:613398
HP:0004209	Clinodactyly of the 5th finger	51317	PHF21A	OMIM:618725
HP:0004209	Clinodactyly of the 5th finger	2186	BPTF	OMIM:617755
HP:0004209	Clinodactyly of the 5th finger	59341	TRPV4	ORPHA:2635
HP:0004209	Clinodactyly of the 5th finger	10225	CD96	ORPHA:1308
HP:0004209	Clinodactyly of the 5th finger	8481	OFD1	ORPHA:2750
HP:0004209	Clinodactyly of the 5th finger	4848	CNOT2	OMIM:618608
HP:0004209	Clinodactyly of the 5th finger	64131	XYLT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	124583	CANT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	55790	CSGALNACT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	4204	MECP2	OMIM:300260
HP:0004209	Clinodactyly of the 5th finger	55553	SOX6	OMIM:618971
HP:0004209	Clinodactyly of the 5th finger	84148	KAT8	OMIM:618974
HP:0004209	Clinodactyly of the 5th finger	58499	ZNF462	OMIM:618619
HP:0004209	Clinodactyly of the 5th finger	4882	NPR2	OMIM:615923
HP:0009774	Triangular shaped phalanges of the hand	658	BMPR1B	OMIM:112600
HP:0009774	Triangular shaped phalanges of the hand	8200	GDF5	OMIM:112600
HP:0009774	Triangular shaped phalanges of the hand	650	BMP2	OMIM:112600
HP:0009774	Triangular shaped phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009774	Triangular shaped phalanges of the hand	50515	CHST11	OMIM:618167
HP:0009774	Triangular shaped phalanges of the hand	124583	CANT1	OMIM:251450
HP:0009774	Triangular shaped phalanges of the hand	4921	DDR2	OMIM:271665
HP:0006086	Thin metacarpal cortices	6678	SPARC	OMIM:616507
HP:0006086	Thin metacarpal cortices	4313	MMP2	OMIM:259600
HP:0009803	Short phalanx of finger	2778	GNAS	ORPHA:79445
HP:0009803	Short phalanx of finger	658	BMPR1B	OMIM:112600
HP:0009803	Short phalanx of finger	658	BMPR1B	OMIM:616849
HP:0009803	Short phalanx of finger	658	BMPR1B	ORPHA:93396
HP:0009803	Short phalanx of finger	8200	GDF5	OMIM:112600
HP:0009803	Short phalanx of finger	8200	GDF5	OMIM:615072
HP:0009803	Short phalanx of finger	8200	GDF5	ORPHA:63442
HP:0009803	Short phalanx of finger	8200	GDF5	ORPHA:93396
HP:0009803	Short phalanx of finger	8200	GDF5	OMIM:113100
HP:0009803	Short phalanx of finger	650	BMP2	OMIM:112600
HP:0009803	Short phalanx of finger	650	BMP2	ORPHA:93396
HP:0009803	Short phalanx of finger	4920	ROR2	OMIM:268310
HP:0009803	Short phalanx of finger	4613	MYCN	ORPHA:391641
HP:0009803	Short phalanx of finger	7021	TFAP2B	ORPHA:46627
HP:0009803	Short phalanx of finger	3481	IGF2	OMIM:180860
HP:0009803	Short phalanx of finger	51199	NIN	ORPHA:319675
HP:0009803	Short phalanx of finger	51199	NIN	OMIM:614851
HP:0009803	Short phalanx of finger	7474	WNT5A	OMIM:180700
HP:0009803	Short phalanx of finger	1855	DVL1	OMIM:180700
HP:0009803	Short phalanx of finger	9241	NOG	OMIM:186500
HP:0009803	Short phalanx of finger	22827	PUF60	ORPHA:508488
HP:0009803	Short phalanx of finger	3239	HOXD13	OMIM:186000
HP:0009803	Short phalanx of finger	3239	HOXD13	ORPHA:93409
HP:0009803	Short phalanx of finger	10847	SRCAP	OMIM:136140
HP:0009803	Short phalanx of finger	860	RUNX2	OMIM:119600
HP:0009803	Short phalanx of finger	860	RUNX2	OMIM:156510
HP:0009803	Short phalanx of finger	2623	GATA1	OMIM:190685
HP:0009803	Short phalanx of finger	2783	GNB2	OMIM:619503
HP:0009803	Short phalanx of finger	2697	GJA1	OMIM:164200
HP:0009803	Short phalanx of finger	5932	RBBP8	OMIM:251255
HP:0009803	Short phalanx of finger	10236	HNRNPR	OMIM:620073
HP:0009803	Short phalanx of finger	57492	ARID1B	OMIM:135900
HP:0009803	Short phalanx of finger	6598	SMARCB1	OMIM:614608
HP:0009803	Short phalanx of finger	59341	TRPV4	OMIM:606835
HP:0009803	Short phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0009803	Short phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0009803	Short phalanx of finger	55777	MBD5	OMIM:156200
HP:0009803	Short phalanx of finger	1836	SLC26A2	OMIM:256050
HP:0009803	Short phalanx of finger	1300	COL10A1	OMIM:156500
HP:0009803	Short phalanx of finger	5745	PTH1R	OMIM:600002
HP:0009803	Short phalanx of finger	5422	POLA1	OMIM:301030
HP:0009803	Short phalanx of finger	9896	FIG4	ORPHA:3472
HP:0009803	Short phalanx of finger	55697	VAC14	ORPHA:3472
HP:0009803	Short phalanx of finger	652	BMP4	OMIM:607932
HP:0009803	Short phalanx of finger	9742	IFT140	OMIM:266920
HP:0009803	Short phalanx of finger	5144	PDE4D	ORPHA:439822
HP:0009803	Short phalanx of finger	8085	KMT2D	ORPHA:2322
HP:0009803	Short phalanx of finger	7403	KDM6A	ORPHA:2322
HP:0009803	Short phalanx of finger	25871	NEPRO	OMIM:618853
HP:0009803	Short phalanx of finger	51053	GMNN	OMIM:616835
HP:0009803	Short phalanx of finger	5116	PCNT	OMIM:210720
HP:0009803	Short phalanx of finger	22995	CEP152	OMIM:613823
HP:0009803	Short phalanx of finger	57572	DOCK6	OMIM:614219
HP:0009803	Short phalanx of finger	55081	IFT57	OMIM:617927
HP:0009803	Short phalanx of finger	407975	MIR17HG	ORPHA:391646
HP:0009803	Short phalanx of finger	4297	KMT2A	OMIM:605130
HP:0009803	Short phalanx of finger	2260	FGFR1	OMIM:101600
HP:0009803	Short phalanx of finger	2263	FGFR2	OMIM:101600
HP:0009803	Short phalanx of finger	84295	PHF6	OMIM:301900
HP:0009803	Short phalanx of finger	9451	EIF2AK3	OMIM:226980
HP:0009803	Short phalanx of finger	84992	PIGY	ORPHA:247262
HP:0009803	Short phalanx of finger	84992	PIGY	OMIM:616809
HP:0009803	Short phalanx of finger	84720	PIGO	ORPHA:247262
HP:0009803	Short phalanx of finger	84720	PIGO	OMIM:614749
HP:0009803	Short phalanx of finger	93210	PGAP3	ORPHA:247262
HP:0009803	Short phalanx of finger	93210	PGAP3	OMIM:615716
HP:0009803	Short phalanx of finger	284098	PIGW	ORPHA:247262
HP:0009803	Short phalanx of finger	27315	PGAP2	ORPHA:247262
HP:0009803	Short phalanx of finger	27315	PGAP2	OMIM:614207
HP:0009803	Short phalanx of finger	9487	PIGL	ORPHA:247262
HP:0009803	Short phalanx of finger	57020	VPS35L	OMIM:619135
HP:0009803	Short phalanx of finger	2972	BRF1	OMIM:616202
HP:0009803	Short phalanx of finger	29929	ALG6	ORPHA:79320
HP:0009803	Short phalanx of finger	5447	POR	ORPHA:95699
HP:0009803	Short phalanx of finger	1280	COL2A1	OMIM:271700
HP:0009803	Short phalanx of finger	2122	MECOM	OMIM:616738
HP:0009803	Short phalanx of finger	27152	INTU	OMIM:617926
HP:0009803	Short phalanx of finger	56992	KIF15	ORPHA:261323
HP:0009803	Short phalanx of finger	57167	SALL4	ORPHA:959
HP:0009803	Short phalanx of finger	2316	FLNA	ORPHA:1826
HP:0009803	Short phalanx of finger	6885	MAP3K7	ORPHA:1826
HP:0009803	Short phalanx of finger	5293	PIK3CD	ORPHA:221139
HP:0009803	Short phalanx of finger	90417	KNSTRN	ORPHA:221139
HP:0009803	Short phalanx of finger	5727	PTCH1	OMIM:109400
HP:0009803	Short phalanx of finger	2137	EXTL3	ORPHA:508533
HP:0009803	Short phalanx of finger	9361	LONP1	OMIM:600373
HP:0009803	Short phalanx of finger	4921	DDR2	OMIM:271665
HP:0009803	Short phalanx of finger	64840	PORCN	OMIM:305600
HP:0009803	Short phalanx of finger	54808	DYM	OMIM:607326
HP:0009803	Short phalanx of finger	4882	NPR2	OMIM:602875
HP:0009803	Short phalanx of finger	63895	PIEZO2	OMIM:114300
HP:0009803	Short phalanx of finger	3590	IL11RA	OMIM:614188
HP:0009803	Short phalanx of finger	9401	RECQL4	ORPHA:221016
HP:0009803	Short phalanx of finger	5593	PRKG2	OMIM:619636
HP:0009803	Short phalanx of finger	55733	HHAT	OMIM:600092
HP:0009803	Short phalanx of finger	55733	HHAT	ORPHA:1422
HP:0009803	Short phalanx of finger	1302	COL11A2	OMIM:215150
HP:0009803	Short phalanx of finger	1302	COL11A2	ORPHA:1427
HP:0009803	Short phalanx of finger	3636	INPPL1	OMIM:258480
HP:0009803	Short phalanx of finger	285590	SH3PXD2B	OMIM:249420
HP:0009803	Short phalanx of finger	9321	TRIP11	OMIM:184260
HP:0009803	Short phalanx of finger	1857	DVL3	OMIM:616894
HP:0009803	Short phalanx of finger	5130	PCYT1A	ORPHA:85167
HP:0009803	Short phalanx of finger	5139	PDE3A	ORPHA:1276
HP:0009803	Short phalanx of finger	5139	PDE3A	OMIM:112410
HP:0009803	Short phalanx of finger	25782	RAB3GAP2	OMIM:212720
HP:0009803	Short phalanx of finger	3417	IDH1	ORPHA:99646
HP:0009803	Short phalanx of finger	9759	HDAC4	OMIM:600430
HP:0009803	Short phalanx of finger	3930	LBR	OMIM:215140
HP:0009803	Short phalanx of finger	4810	NHS	OMIM:302350
HP:0009803	Short phalanx of finger	23522	KAT6B	OMIM:606170
HP:0009803	Short phalanx of finger	64131	XYLT1	OMIM:615777
HP:0009803	Short phalanx of finger	1788	DNMT3A	OMIM:618724
HP:0009803	Short phalanx of finger	3759	KCNJ2	OMIM:170390
HP:0009803	Short phalanx of finger	9939	RBM8A	OMIM:274000
HP:0009803	Short phalanx of finger	1807	DPYS	OMIM:222748
HP:0009803	Short phalanx of finger	5573	PRKAR1A	ORPHA:280651
HP:0009803	Short phalanx of finger	5573	PRKAR1A	OMIM:101800
HP:0009803	Short phalanx of finger	633	BGN	OMIM:300106
HP:0009803	Short phalanx of finger	9509	ADAMTS2	OMIM:225410
HP:0009803	Short phalanx of finger	375056	MIA3	OMIM:619269
HP:0009803	Short phalanx of finger	3977	LIFR	OMIM:601559
HP:0009803	Short phalanx of finger	9775	EIF4A3	OMIM:268305
HP:0009803	Short phalanx of finger	54101	RIPK4	OMIM:263650
HP:0009803	Short phalanx of finger	83452	RAB33B	OMIM:615222
HP:0009803	Short phalanx of finger	91252	SLC39A13	OMIM:612350
HP:0009803	Short phalanx of finger	2200	FBN1	OMIM:102370
HP:0009803	Short phalanx of finger	2879	GPX4	OMIM:250220
HP:0009803	Short phalanx of finger	64682	ANAPC1	ORPHA:221008
HP:0009803	Short phalanx of finger	9488	PIGB	OMIM:618580
HP:0009803	Short phalanx of finger	10617	STAMBP	OMIM:614261
HP:0009803	Short phalanx of finger	2335	FN1	ORPHA:93315
HP:0009803	Short phalanx of finger	23556	PIGN	ORPHA:2059
HP:0009803	Short phalanx of finger	23556	PIGN	OMIM:614080
HP:0009803	Short phalanx of finger	51412	ACTL6B	OMIM:618470
HP:0009803	Short phalanx of finger	57465	TBC1D24	OMIM:220500
HP:0009803	Short phalanx of finger	57465	TBC1D24	ORPHA:79500
HP:0009803	Short phalanx of finger	613	BCR	ORPHA:261330
HP:0009803	Short phalanx of finger	1399	CRKL	ORPHA:261330
HP:0009803	Short phalanx of finger	5594	MAPK1	ORPHA:261330
HP:0009803	Short phalanx of finger	55784	MCTP2	ORPHA:1596
HP:0009803	Short phalanx of finger	4000	LMNA	OMIM:248370
HP:0009803	Short phalanx of finger	4000	LMNA	ORPHA:90153
HP:0009803	Short phalanx of finger	5744	PTHLH	ORPHA:93387
HP:0009803	Short phalanx of finger	3764	KCNJ8	ORPHA:1517
HP:0009803	Short phalanx of finger	10060	ABCC9	ORPHA:1517
HP:0009803	Short phalanx of finger	10651	MTX2	ORPHA:90153
HP:0009803	Short phalanx of finger	57539	WDR35	ORPHA:1515
HP:0009803	Short phalanx of finger	57539	WDR35	OMIM:614091
HP:0009803	Short phalanx of finger	112752	IFT43	ORPHA:1515
HP:0009803	Short phalanx of finger	51098	IFT52	ORPHA:1515
HP:0009803	Short phalanx of finger	51098	IFT52	OMIM:617102
HP:0009803	Short phalanx of finger	55764	IFT122	ORPHA:1515
HP:0009803	Short phalanx of finger	55764	IFT122	OMIM:218330
HP:0009803	Short phalanx of finger	57728	WDR19	ORPHA:1515
HP:0009803	Short phalanx of finger	57728	WDR19	OMIM:614378
HP:0009803	Short phalanx of finger	10269	ZMPSTE24	ORPHA:90154
HP:0009803	Short phalanx of finger	6926	TBX3	ORPHA:3138
HP:0009803	Short phalanx of finger	55650	PIGV	OMIM:239300
HP:0009803	Short phalanx of finger	29957	SLC25A24	ORPHA:2963
HP:0009803	Short phalanx of finger	29957	SLC25A24	ORPHA:2095
HP:0009803	Short phalanx of finger	29957	SLC25A24	OMIM:612289
HP:0009803	Short phalanx of finger	6595	SMARCA2	OMIM:619293
HP:0009803	Short phalanx of finger	4784	NFIX	OMIM:602535
HP:0009803	Short phalanx of finger	24140	FTSJ1	OMIM:309549
HP:0009803	Short phalanx of finger	54496	PRMT7	OMIM:617157
HP:0009803	Short phalanx of finger	3756	KCNH1	OMIM:135500
HP:0009803	Short phalanx of finger	3756	KCNH1	ORPHA:420561
HP:0009803	Short phalanx of finger	3756	KCNH1	OMIM:611816
HP:0009803	Short phalanx of finger	9469	CHST3	OMIM:143095
HP:0009803	Short phalanx of finger	64359	NXN	ORPHA:1507
HP:0009803	Short phalanx of finger	8289	ARID1A	OMIM:614607
HP:0009803	Short phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0009803	Short phalanx of finger	5566	PRKACA	ORPHA:289
HP:0009803	Short phalanx of finger	5567	PRKACB	ORPHA:289
HP:0009803	Short phalanx of finger	2735	GLI1	ORPHA:289
HP:0009803	Short phalanx of finger	2121	EVC	ORPHA:289
HP:0009803	Short phalanx of finger	51626	DYNC2LI1	ORPHA:289
HP:0009803	Short phalanx of finger	132884	EVC2	ORPHA:289
HP:0009803	Short phalanx of finger	9419	CRIPT	OMIM:615789
HP:0009803	Short phalanx of finger	3782	KCNN3	OMIM:618658
HP:0009803	Short phalanx of finger	4853	NOTCH2	ORPHA:955
HP:0009803	Short phalanx of finger	26040	SETBP1	OMIM:269150
HP:0009803	Short phalanx of finger	26040	SETBP1	ORPHA:798
HP:0009803	Short phalanx of finger	2239	GPC4	ORPHA:2662
HP:0009803	Short phalanx of finger	2239	GPC4	OMIM:312870
HP:0009803	Short phalanx of finger	54	ACP5	ORPHA:1855
HP:0009803	Short phalanx of finger	6197	RPS6KA3	ORPHA:192
HP:0009803	Short phalanx of finger	5281	PIGF	OMIM:619356
HP:0009803	Short phalanx of finger	94005	PIGS	OMIM:618143
HP:0009803	Short phalanx of finger	2677	GGCX	OMIM:277450
HP:0009803	Short phalanx of finger	10283	CWC27	OMIM:250410
HP:0009803	Short phalanx of finger	415	ARSL	ORPHA:79345
HP:0009803	Short phalanx of finger	415	ARSL	OMIM:302950
HP:0009803	Short phalanx of finger	526	ATP6V1B2	ORPHA:79500
HP:0009803	Short phalanx of finger	2317	FLNB	ORPHA:503
HP:0009803	Short phalanx of finger	1311	COMP	OMIM:177170
HP:0009803	Short phalanx of finger	25839	COG4	OMIM:618150
HP:0009803	Short phalanx of finger	26137	ZBTB20	OMIM:259050
HP:0009803	Short phalanx of finger	60401	EDA2R	ORPHA:181
HP:0009803	Short phalanx of finger	1896	EDA	ORPHA:181
HP:0009803	Short phalanx of finger	5159	PDGFRB	OMIM:601812
HP:0009803	Short phalanx of finger	4256	MGP	ORPHA:85202
HP:0009803	Short phalanx of finger	4256	MGP	OMIM:245150
HP:0009803	Short phalanx of finger	28952	CCDC22	OMIM:300963
HP:0009803	Short phalanx of finger	182	JAG1	OMIM:118450
HP:0009803	Short phalanx of finger	7291	TWIST1	OMIM:617746
HP:0009803	Short phalanx of finger	6605	SMARCE1	OMIM:616938
HP:0009803	Short phalanx of finger	3516	RBPJ	ORPHA:974
HP:0009803	Short phalanx of finger	3516	RBPJ	OMIM:614814
HP:0009803	Short phalanx of finger	4851	NOTCH1	ORPHA:974
HP:0009803	Short phalanx of finger	57514	ARHGAP31	ORPHA:974
HP:0009803	Short phalanx of finger	285203	EOGT	ORPHA:974
HP:0009803	Short phalanx of finger	54567	DLL4	ORPHA:974
HP:0009803	Short phalanx of finger	50515	CHST11	OMIM:618167
HP:0009803	Short phalanx of finger	8242	KDM5C	OMIM:300534
HP:0009803	Short phalanx of finger	1186	CLCN7	ORPHA:53
HP:0009803	Short phalanx of finger	2702	GJA5	OMIM:612474
HP:0009803	Short phalanx of finger	2703	GJA8	OMIM:612474
HP:0009803	Short phalanx of finger	2719	GPC3	OMIM:312870
HP:0009803	Short phalanx of finger	6664	SOX11	OMIM:615866
HP:0009803	Short phalanx of finger	25886	POC1A	OMIM:614813
HP:0009803	Short phalanx of finger	865	CBFB	OMIM:620099
HP:0009803	Short phalanx of finger	2261	FGFR3	ORPHA:15
HP:0009803	Short phalanx of finger	2475	MTOR	OMIM:616638
HP:0009803	Short phalanx of finger	3549	IHH	OMIM:607778
HP:0009803	Short phalanx of finger	6662	SOX9	OMIM:114290
HP:0009803	Short phalanx of finger	1009	CDH11	OMIM:211380
HP:0009803	Short phalanx of finger	7227	TRPS1	ORPHA:77258
HP:0006088	1-5 finger complete cutaneous syndactyly	64327	LMBR1	OMIM:186200
HP:0006089	Palmar hyperhidrosis	3914	LAMB3	OMIM:226650
HP:0006089	Palmar hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0006089	Palmar hyperhidrosis	1508	CTSB	OMIM:148370
HP:0006089	Palmar hyperhidrosis	80326	WNT10A	OMIM:150400
HP:0006089	Palmar hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0006089	Palmar hyperhidrosis	8710	SERPINB7	OMIM:615598
HP:0006089	Palmar hyperhidrosis	9373	PLAA	OMIM:617527
HP:0006089	Palmar hyperhidrosis	3872	KRT17	OMIM:167210
HP:0006089	Palmar hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0006089	Palmar hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0006089	Palmar hyperhidrosis	162514	TRPV3	ORPHA:659
HP:0006089	Palmar hyperhidrosis	64065	PERP	ORPHA:659
HP:0006089	Palmar hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0006089	Palmar hyperhidrosis	3868	KRT16	ORPHA:2309
HP:0006089	Palmar hyperhidrosis	3853	KRT6A	ORPHA:2309
HP:0006089	Palmar hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0006089	Palmar hyperhidrosis	1041	CDSN	OMIM:270300
HP:0009611	Bifid distal phalanx of the thumb	55012	PPP2R3C	OMIM:618419
HP:0009611	Bifid distal phalanx of the thumb	374654	KIF7	OMIM:200990
HP:0009611	Bifid distal phalanx of the thumb	5053	PAH	ORPHA:2209
HP:0009611	Bifid distal phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009193	Pseudoepiphyses of the metacarpals	6299	SALL1	OMIM:107480
HP:0009193	Pseudoepiphyses of the metacarpals	25839	COG4	OMIM:618150
HP:0009193	Pseudoepiphyses of the metacarpals	5116	PCNT	OMIM:210720
HP:0009193	Pseudoepiphyses of the metacarpals	6197	RPS6KA3	ORPHA:192
HP:0009193	Pseudoepiphyses of the metacarpals	53834	FGFRL1	OMIM:194190
HP:0009193	Pseudoepiphyses of the metacarpals	1487	CTBP1	OMIM:194190
HP:0009193	Pseudoepiphyses of the metacarpals	3954	LETM1	OMIM:194190
HP:0009193	Pseudoepiphyses of the metacarpals	7468	NSD2	OMIM:194190
HP:0009193	Pseudoepiphyses of the metacarpals	10815	CPLX1	OMIM:194190
HP:0009193	Pseudoepiphyses of the metacarpals	4883	NPR3	OMIM:619543
HP:0006092	Malaligned carpal bone	8200	GDF5	OMIM:228900
HP:0005872	Brachytelomesophalangy	59341	TRPV4	OMIM:606835
HP:0006094	Finger joint hypermobility	6197	RPS6KA3	OMIM:303600
HP:0006094	Finger joint hypermobility	9791	PTDSS1	OMIM:151050
HP:0006094	Finger joint hypermobility	2245	FGD1	OMIM:305400
HP:0006094	Finger joint hypermobility	9759	HDAC4	OMIM:619797
HP:0006094	Finger joint hypermobility	3756	KCNH1	OMIM:135500
HP:0006094	Finger joint hypermobility	57479	PRR12	OMIM:619539
HP:0006094	Finger joint hypermobility	6611	SMS	OMIM:309583
HP:0006094	Finger joint hypermobility	673	BRAF	OMIM:115150
HP:0006094	Finger joint hypermobility	91461	PKDCC	OMIM:618821
HP:0006094	Finger joint hypermobility	9968	MED12	OMIM:309520
HP:0006094	Finger joint hypermobility	92344	GORAB	OMIM:231070
HP:0006094	Finger joint hypermobility	54499	TMCO1	OMIM:213980
HP:0006094	Finger joint hypermobility	387733	IFITM5	OMIM:610967
HP:0006094	Finger joint hypermobility	51633	OTUD6B	ORPHA:505237
HP:0006094	Finger joint hypermobility	23114	NFASC	OMIM:618356
HP:0006094	Finger joint hypermobility	1289	COL5A1	OMIM:130000
HP:0006094	Finger joint hypermobility	54872	PIGG	ORPHA:488635
HP:0006094	Finger joint hypermobility	1278	COL1A2	OMIM:617821
HP:0006094	Finger joint hypermobility	427	ASAH1	OMIM:228000
HP:0006094	Finger joint hypermobility	9373	PLAA	ORPHA:521426
HP:0006094	Finger joint hypermobility	2783	GNB2	OMIM:619503
HP:0006094	Finger joint hypermobility	3265	HRAS	OMIM:218040
HP:0006094	Finger joint hypermobility	2200	FBN1	OMIM:616914
HP:0006094	Finger joint hypermobility	121340	SP7	OMIM:613849
HP:0006094	Finger joint hypermobility	4010	LMX1B	ORPHA:2614
HP:0006094	Finger joint hypermobility	1281	COL3A1	OMIM:130050
HP:0006094	Finger joint hypermobility	7528	YY1	ORPHA:506358
HP:0006094	Finger joint hypermobility	7528	YY1	OMIM:617557
HP:0006094	Finger joint hypermobility	54681	P4HTM	OMIM:618493
HP:0006094	Finger joint hypermobility	128674	PROKR2	OMIM:244200
HP:0006094	Finger joint hypermobility	55790	CSGALNACT1	OMIM:618870
HP:0006094	Finger joint hypermobility	22861	NLRP1	OMIM:615225
HP:0006094	Finger joint hypermobility	867	CBL	OMIM:613563
HP:0006094	Finger joint hypermobility	1311	COMP	ORPHA:93308
HP:0006094	Finger joint hypermobility	25782	RAB3GAP2	OMIM:212720
HP:0006094	Finger joint hypermobility	11342	RNF13	ORPHA:544503
HP:0006094	Finger joint hypermobility	1277	COL1A1	OMIM:166200
HP:0006094	Finger joint hypermobility	3373	HYAL1	OMIM:601492
HP:0006094	Finger joint hypermobility	1291	COL6A1	OMIM:254090
HP:0006094	Finger joint hypermobility	1291	COL6A1	ORPHA:75840
HP:0006094	Finger joint hypermobility	1292	COL6A2	OMIM:254090
HP:0006094	Finger joint hypermobility	1292	COL6A2	ORPHA:75840
HP:0006094	Finger joint hypermobility	1293	COL6A3	OMIM:254090
HP:0006094	Finger joint hypermobility	1293	COL6A3	ORPHA:75840
HP:0006094	Finger joint hypermobility	1303	COL12A1	ORPHA:75840
HP:0006095	Wide tufts of distal phalanges	1301	COL11A1	OMIM:154780
HP:0009473	Joint contracture of the hand	64093	SMOC1	OMIM:206920
HP:0009473	Joint contracture of the hand	64093	SMOC1	ORPHA:1106
HP:0009473	Joint contracture of the hand	7317	UBA1	ORPHA:1145
HP:0009473	Joint contracture of the hand	3868	KRT16	ORPHA:2199
HP:0009473	Joint contracture of the hand	3857	KRT9	ORPHA:2199
HP:0009473	Joint contracture of the hand	3848	KRT1	ORPHA:2199
HP:0009473	Joint contracture of the hand	4313	MMP2	OMIM:259600
HP:0009473	Joint contracture of the hand	55628	ZNF407	OMIM:619557
HP:0009473	Joint contracture of the hand	23219	FBXO28	OMIM:619777
HP:0009473	Joint contracture of the hand	84265	POLR3GL	OMIM:619234
HP:0009473	Joint contracture of the hand	29072	SETD2	ORPHA:821
HP:0009473	Joint contracture of the hand	10297	APC2	ORPHA:821
HP:0009473	Joint contracture of the hand	3798	KIF5A	ORPHA:100991
HP:0009473	Joint contracture of the hand	51305	KCNK9	ORPHA:166108
HP:0009473	Joint contracture of the hand	825	CAPN3	ORPHA:267
HP:0009473	Joint contracture of the hand	7043	TGFB3	OMIM:615582
HP:0009473	Joint contracture of the hand	5307	PITX1	OMIM:186550
HP:0009473	Joint contracture of the hand	10664	CTCF	ORPHA:363611
HP:0009473	Joint contracture of the hand	26053	AUTS2	ORPHA:352490
HP:0009473	Joint contracture of the hand	219854	TMEM218	OMIM:619562
HP:0009473	Joint contracture of the hand	23291	FBXW11	OMIM:618914
HP:0009473	Joint contracture of the hand	79912	PYROXD1	OMIM:617258
HP:0009473	Joint contracture of the hand	9757	KMT2B	OMIM:619934
HP:0009473	Joint contracture of the hand	3720	JARID2	OMIM:620098
HP:0009473	Joint contracture of the hand	10765	KDM5B	OMIM:618109
HP:0009473	Joint contracture of the hand	9487	PIGL	OMIM:280000
HP:0009473	Joint contracture of the hand	10093	ARPC4	OMIM:620141
HP:0009473	Joint contracture of the hand	25942	SIN3A	OMIM:613406
HP:0009473	Joint contracture of the hand	11011	TLK2	OMIM:618050
HP:0009473	Joint contracture of the hand	80816	ASXL3	OMIM:615485
HP:0009473	Joint contracture of the hand	81857	MED25	ORPHA:464738
HP:0009473	Joint contracture of the hand	8243	SMC1A	OMIM:301044
HP:0009473	Joint contracture of the hand	6909	TBX2	OMIM:618223
HP:0009473	Joint contracture of the hand	1718	DHCR24	OMIM:602398
HP:0009473	Joint contracture of the hand	5447	POR	OMIM:201750
HP:0009473	Joint contracture of the hand	2737	GLI3	OMIM:175700
HP:0009473	Joint contracture of the hand	1001	CDH3	OMIM:225280
HP:0009473	Joint contracture of the hand	5830	PEX5	OMIM:214110
HP:0009473	Joint contracture of the hand	1235	CCR6	ORPHA:220402
HP:0009473	Joint contracture of the hand	79932	KIAA0319L	ORPHA:220402
HP:0009473	Joint contracture of the hand	1490	CCN2	ORPHA:220402
HP:0009473	Joint contracture of the hand	3663	IRF5	ORPHA:220402
HP:0009473	Joint contracture of the hand	857	CAV1	ORPHA:220402
HP:0009473	Joint contracture of the hand	3123	HLA-DRB1	ORPHA:220402
HP:0009473	Joint contracture of the hand	91179	SCARF2	OMIM:600920
HP:0009473	Joint contracture of the hand	51715	RAB23	OMIM:201000
HP:0009473	Joint contracture of the hand	113179	ADAT3	ORPHA:363528
HP:0009473	Joint contracture of the hand	9215	LARGE1	OMIM:608840
HP:0009473	Joint contracture of the hand	2273	FHL1	OMIM:300280
HP:0009473	Joint contracture of the hand	139285	AMER1	OMIM:300373
HP:0009473	Joint contracture of the hand	8626	TP63	OMIM:603543
HP:0009473	Joint contracture of the hand	10084	PQBP1	OMIM:309500
HP:0009473	Joint contracture of the hand	7390	UROS	OMIM:263700
HP:0009473	Joint contracture of the hand	1272	CNTN1	OMIM:612540
HP:0009473	Joint contracture of the hand	3572	IL6ST	OMIM:618523
HP:0009473	Joint contracture of the hand	57211	ADGRG6	OMIM:616503
HP:0009473	Joint contracture of the hand	10195	ALG3	OMIM:601110
HP:0009473	Joint contracture of the hand	6913	TBX15	OMIM:260660
HP:0009473	Joint contracture of the hand	51651	PTRH2	ORPHA:456312
HP:0009473	Joint contracture of the hand	57449	PLEKHG5	OMIM:611067
HP:0009473	Joint contracture of the hand	54332	GDAP1	ORPHA:99948
HP:0009473	Joint contracture of the hand	5376	PMP22	ORPHA:90658
HP:0009473	Joint contracture of the hand	26227	PHGDH	OMIM:256520
HP:0009473	Joint contracture of the hand	1277	COL1A1	OMIM:130060
HP:0009473	Joint contracture of the hand	6134	RPL10	OMIM:300998
HP:0009473	Joint contracture of the hand	23327	NEDD4L	OMIM:617201
HP:0009473	Joint contracture of the hand	8985	PLOD3	OMIM:612394
HP:0009473	Joint contracture of the hand	1889	ECE1	OMIM:613870
HP:0009473	Joint contracture of the hand	4010	LMX1B	ORPHA:2614
HP:0009473	Joint contracture of the hand	6662	SOX9	OMIM:114290
HP:0009473	Joint contracture of the hand	4297	KMT2A	OMIM:605130
HP:0009473	Joint contracture of the hand	1280	COL2A1	ORPHA:485
HP:0009473	Joint contracture of the hand	6840	SVIL	OMIM:619040
HP:0009473	Joint contracture of the hand	342035	GLDN	OMIM:617194
HP:0009473	Joint contracture of the hand	3861	KRT14	ORPHA:69087
HP:0009473	Joint contracture of the hand	57190	SELENON	ORPHA:2020
HP:0009473	Joint contracture of the hand	58	ACTA1	ORPHA:2020
HP:0009473	Joint contracture of the hand	4633	MYL2	ORPHA:2020
HP:0009473	Joint contracture of the hand	3679	ITGA7	ORPHA:2020
HP:0009473	Joint contracture of the hand	9200	HACD1	ORPHA:2020
HP:0009473	Joint contracture of the hand	7170	TPM3	ORPHA:2020
HP:0009473	Joint contracture of the hand	51776	MAP3K20	ORPHA:2020
HP:0009473	Joint contracture of the hand	28982	FLVCR1	ORPHA:88628
HP:0009473	Joint contracture of the hand	28982	FLVCR1	OMIM:609033
HP:0009473	Joint contracture of the hand	5159	PDGFRB	OMIM:601812
HP:0009473	Joint contracture of the hand	388015	RTL1	ORPHA:254528
HP:0009473	Joint contracture of the hand	8788	DLK1	ORPHA:254528
HP:0009473	Joint contracture of the hand	55384	MEG3	ORPHA:254528
HP:0009473	Joint contracture of the hand	4921	DDR2	OMIM:618175
HP:0009473	Joint contracture of the hand	23345	SYNE1	OMIM:618484
HP:0009473	Joint contracture of the hand	23345	SYNE1	ORPHA:319332
HP:0009473	Joint contracture of the hand	22880	MORC2	ORPHA:466768
HP:0009473	Joint contracture of the hand	4747	NEFL	ORPHA:101085
HP:0009473	Joint contracture of the hand	1859	DYRK1A	ORPHA:464311
HP:0009473	Joint contracture of the hand	203859	ANO5	ORPHA:206549
HP:0009473	Joint contracture of the hand	64423	INF2	OMIM:614455
HP:0009473	Joint contracture of the hand	10280	SIGMAR1	OMIM:605726
HP:0009473	Joint contracture of the hand	10397	NDRG1	OMIM:601455
HP:0009473	Joint contracture of the hand	3315	HSPB1	OMIM:606595
HP:0009473	Joint contracture of the hand	8566	PDXK	OMIM:618511
HP:0009473	Joint contracture of the hand	3098	HK1	OMIM:605285
HP:0009473	Joint contracture of the hand	2218	FKTN	ORPHA:272
HP:0009473	Joint contracture of the hand	4621	MYH3	ORPHA:2053
HP:0009473	Joint contracture of the hand	4621	MYH3	ORPHA:1146
HP:0009473	Joint contracture of the hand	4621	MYH3	ORPHA:2990
HP:0009473	Joint contracture of the hand	259232	NALCN	ORPHA:2053
HP:0009473	Joint contracture of the hand	259232	NALCN	ORPHA:1146
HP:0009473	Joint contracture of the hand	8294	H4C9	OMIM:619951
HP:0009473	Joint contracture of the hand	3094	HINT1	ORPHA:324442
HP:0009473	Joint contracture of the hand	8838	CCN6	OMIM:208230
HP:0009473	Joint contracture of the hand	1947	EFNB1	ORPHA:1520
HP:0009473	Joint contracture of the hand	7355	SLC35A2	ORPHA:356961
HP:0009473	Joint contracture of the hand	118429	ANTXR2	ORPHA:2176
HP:0009473	Joint contracture of the hand	5077	PAX3	ORPHA:1529
HP:0009473	Joint contracture of the hand	5077	PAX3	ORPHA:896
HP:0009473	Joint contracture of the hand	5077	PAX3	OMIM:148820
HP:0009473	Joint contracture of the hand	2316	FLNA	OMIM:300244
HP:0009473	Joint contracture of the hand	2316	FLNA	ORPHA:90652
HP:0009473	Joint contracture of the hand	2316	FLNA	ORPHA:1826
HP:0009473	Joint contracture of the hand	2316	FLNA	OMIM:305620
HP:0009473	Joint contracture of the hand	9241	NOG	ORPHA:3250
HP:0009473	Joint contracture of the hand	8200	GDF5	ORPHA:3250
HP:0009473	Joint contracture of the hand	54968	TMEM70	ORPHA:1194
HP:0009473	Joint contracture of the hand	613	BCR	ORPHA:261330
HP:0009473	Joint contracture of the hand	1399	CRKL	ORPHA:261330
HP:0009473	Joint contracture of the hand	5594	MAPK1	ORPHA:261330
HP:0009473	Joint contracture of the hand	84466	MEGF10	OMIM:614399
HP:0009473	Joint contracture of the hand	72	ACTG2	ORPHA:2604
HP:0009473	Joint contracture of the hand	10216	PRG4	ORPHA:2848
HP:0009473	Joint contracture of the hand	3508	IGHMBP2	OMIM:604320
HP:0009473	Joint contracture of the hand	6926	TBX3	ORPHA:3138
HP:0009473	Joint contracture of the hand	51360	MBTPS2	ORPHA:2273
HP:0009473	Joint contracture of the hand	10381	TUBB3	OMIM:600638
HP:0009473	Joint contracture of the hand	9469	CHST3	OMIM:143095
HP:0009473	Joint contracture of the hand	3423	IDS	ORPHA:217085
HP:0009473	Joint contracture of the hand	3423	IDS	ORPHA:217093
HP:0009473	Joint contracture of the hand	64359	NXN	ORPHA:1507
HP:0009473	Joint contracture of the hand	4920	ROR2	ORPHA:1507
HP:0009473	Joint contracture of the hand	2697	GJA1	ORPHA:2710
HP:0009473	Joint contracture of the hand	2697	GJA1	ORPHA:93404
HP:0009473	Joint contracture of the hand	64127	NOD2	OMIM:186580
HP:0009473	Joint contracture of the hand	64127	NOD2	ORPHA:90340
HP:0009473	Joint contracture of the hand	6999	TDO2	OMIM:600627
HP:0009473	Joint contracture of the hand	1301	COL11A1	ORPHA:2021
HP:0009473	Joint contracture of the hand	1302	COL11A2	ORPHA:2021
HP:0009473	Joint contracture of the hand	10716	TBR1	ORPHA:1617
HP:0009473	Joint contracture of the hand	3425	IDUA	OMIM:607015
HP:0009473	Joint contracture of the hand	3425	IDUA	ORPHA:93473
HP:0009473	Joint contracture of the hand	4593	MUSK	OMIM:208150
HP:0009473	Joint contracture of the hand	4593	MUSK	ORPHA:994
HP:0009473	Joint contracture of the hand	63895	PIEZO2	OMIM:114300
HP:0009473	Joint contracture of the hand	63895	PIEZO2	ORPHA:376
HP:0009473	Joint contracture of the hand	63895	PIEZO2	ORPHA:2461
HP:0009473	Joint contracture of the hand	56006	SMG9	OMIM:616920
HP:0009473	Joint contracture of the hand	1857	DVL3	ORPHA:3107
HP:0009473	Joint contracture of the hand	7474	WNT5A	ORPHA:3107
HP:0009473	Joint contracture of the hand	1855	DVL1	ORPHA:3107
HP:0009473	Joint contracture of the hand	2535	FZD2	ORPHA:3107
HP:0009473	Joint contracture of the hand	9508	ADAMTS3	ORPHA:2136
HP:0009473	Joint contracture of the hand	147372	CCBE1	ORPHA:2136
HP:0009473	Joint contracture of the hand	79633	FAT4	ORPHA:2136
HP:0009473	Joint contracture of the hand	5189	PEX1	ORPHA:3220
HP:0009473	Joint contracture of the hand	5190	PEX6	ORPHA:3220
HP:0009473	Joint contracture of the hand	5590	PRKCZ	ORPHA:1606
HP:0009473	Joint contracture of the hand	2563	GABRD	ORPHA:1606
HP:0009473	Joint contracture of the hand	23013	SPEN	ORPHA:1606
HP:0009473	Joint contracture of the hand	8510	MMP23B	ORPHA:1606
HP:0009473	Joint contracture of the hand	7798	LUZP1	ORPHA:1606
HP:0009473	Joint contracture of the hand	6497	SKI	ORPHA:1606
HP:0009473	Joint contracture of the hand	6497	SKI	ORPHA:2462
HP:0009473	Joint contracture of the hand	10630	PDPN	ORPHA:1606
HP:0009473	Joint contracture of the hand	3339	HSPG2	ORPHA:1606
HP:0009473	Joint contracture of the hand	10277	UBE4B	ORPHA:1606
HP:0009473	Joint contracture of the hand	8514	KCNAB2	ORPHA:1606
HP:0009473	Joint contracture of the hand	473	RERE	ORPHA:1606
HP:0009473	Joint contracture of the hand	63976	PRDM16	ORPHA:1606
HP:0009473	Joint contracture of the hand	54897	CASZ1	ORPHA:1606
HP:0009473	Joint contracture of the hand	9719	ADAMTSL2	OMIM:231050
HP:0009473	Joint contracture of the hand	4952	OCRL	OMIM:309000
HP:0009473	Joint contracture of the hand	8517	IKBKG	ORPHA:464
HP:0009473	Joint contracture of the hand	10436	EMG1	ORPHA:1270
HP:0009473	Joint contracture of the hand	57492	ARID1B	ORPHA:251056
HP:0009473	Joint contracture of the hand	11128	POLR3A	ORPHA:3455
HP:0009473	Joint contracture of the hand	2239	GPC4	ORPHA:373
HP:0009473	Joint contracture of the hand	2719	GPC3	ORPHA:373
HP:0009473	Joint contracture of the hand	55612	FERMT1	ORPHA:2908
HP:0009473	Joint contracture of the hand	3977	LIFR	ORPHA:3206
HP:0009473	Joint contracture of the hand	23483	TGDS	ORPHA:1388
HP:0009473	Joint contracture of the hand	2260	FGFR1	OMIM:166250
HP:0009473	Joint contracture of the hand	7140	TNNT3	ORPHA:1146
HP:0009473	Joint contracture of the hand	7169	TPM2	ORPHA:1146
HP:0009473	Joint contracture of the hand	7136	TNNI2	ORPHA:1146
HP:0009473	Joint contracture of the hand	7136	TNNI2	OMIM:601680
HP:0009473	Joint contracture of the hand	4604	MYBPC1	ORPHA:1146
HP:0009473	Joint contracture of the hand	6885	MAP3K7	ORPHA:1826
HP:0009473	Joint contracture of the hand	117581	TWIST2	ORPHA:920
HP:0009473	Joint contracture of the hand	64324	NSD1	ORPHA:3447
HP:0009473	Joint contracture of the hand	8726	EED	ORPHA:3447
HP:0009473	Joint contracture of the hand	23512	SUZ12	ORPHA:3447
HP:0009473	Joint contracture of the hand	2146	EZH2	ORPHA:3447
HP:0009473	Joint contracture of the hand	1723	DHODH	ORPHA:246
HP:0009473	Joint contracture of the hand	257	ALX3	ORPHA:391474
HP:0009473	Joint contracture of the hand	3239	HOXD13	OMIM:186300
HP:0009473	Joint contracture of the hand	3239	HOXD13	ORPHA:93406
HP:0009473	Joint contracture of the hand	54903	MKS1	OMIM:249000
HP:0009473	Joint contracture of the hand	91252	SLC39A13	OMIM:612350
HP:0009473	Joint contracture of the hand	22930	RAB3GAP1	OMIM:619420
HP:0009473	Joint contracture of the hand	7046	TGFBR1	ORPHA:60030
HP:0009473	Joint contracture of the hand	10526	IPO8	ORPHA:60030
HP:0009473	Joint contracture of the hand	7048	TGFBR2	ORPHA:60030
HP:0009473	Joint contracture of the hand	3897	L1CAM	ORPHA:2466
HP:0009473	Joint contracture of the hand	2245	FGD1	ORPHA:915
HP:0009473	Joint contracture of the hand	2200	FBN1	ORPHA:2462
HP:0009473	Joint contracture of the hand	2201	FBN2	ORPHA:115
HP:0009473	Joint contracture of the hand	7227	TRPS1	ORPHA:77258
HP:0009473	Joint contracture of the hand	4088	SMAD3	ORPHA:284984
HP:0009473	Joint contracture of the hand	27238	GPKOW	ORPHA:2570
HP:0009473	Joint contracture of the hand	10466	COG5	ORPHA:263487
HP:0009473	Joint contracture of the hand	55315	SLC29A3	OMIM:602782
HP:0009473	Joint contracture of the hand	23102	TBC1D2B	OMIM:619323
HP:0009473	Joint contracture of the hand	2068	ERCC2	OMIM:610756
HP:0009473	Joint contracture of the hand	2068	ERCC2	ORPHA:1466
HP:0009473	Joint contracture of the hand	51114	ZDHHC9	ORPHA:776
HP:0009473	Joint contracture of the hand	65109	UPF3B	ORPHA:776
HP:0009473	Joint contracture of the hand	9968	MED12	ORPHA:776
HP:0009473	Joint contracture of the hand	2067	ERCC1	OMIM:610758
HP:0009473	Joint contracture of the hand	2067	ERCC1	ORPHA:1466
HP:0009473	Joint contracture of the hand	114548	NLRP3	ORPHA:575
HP:0009473	Joint contracture of the hand	2074	ERCC6	ORPHA:1466
HP:0009473	Joint contracture of the hand	2073	ERCC5	ORPHA:1466
HP:0009473	Joint contracture of the hand	134701	RIPPLY2	ORPHA:2311
HP:0009473	Joint contracture of the hand	10683	DLL3	ORPHA:2311
HP:0009473	Joint contracture of the hand	3955	LFNG	ORPHA:2311
HP:0009473	Joint contracture of the hand	84667	HES7	ORPHA:2311
HP:0009473	Joint contracture of the hand	145873	MESP2	ORPHA:2311
HP:0009473	Joint contracture of the hand	81620	CDT1	ORPHA:2554
HP:0009473	Joint contracture of the hand	5000	ORC4	ORPHA:2554
HP:0009473	Joint contracture of the hand	23594	ORC6	ORPHA:2554
HP:0009473	Joint contracture of the hand	8318	CDC45	ORPHA:2554
HP:0009473	Joint contracture of the hand	990	CDC6	ORPHA:2554
HP:0009473	Joint contracture of the hand	4998	ORC1	ORPHA:2554
HP:0009473	Joint contracture of the hand	51053	GMNN	ORPHA:2554
HP:0009473	Joint contracture of the hand	8260	NAA10	ORPHA:568
HP:0009473	Joint contracture of the hand	54880	BCOR	ORPHA:568
HP:0009473	Joint contracture of the hand	64327	LMBR1	ORPHA:93405
HP:0009473	Joint contracture of the hand	6469	SHH	ORPHA:93405
HP:0009473	Joint contracture of the hand	4927	NUP88	ORPHA:994
HP:0009473	Joint contracture of the hand	7846	TUBA1A	ORPHA:994
HP:0009473	Joint contracture of the hand	4654	MYOD1	ORPHA:994
HP:0009473	Joint contracture of the hand	5913	RAPSN	ORPHA:994
HP:0009473	Joint contracture of the hand	6572	SLC18A3	ORPHA:994
HP:0009473	Joint contracture of the hand	285489	DOK7	ORPHA:994
HP:0009473	Joint contracture of the hand	3914	LAMB3	OMIM:226650
HP:0009473	Joint contracture of the hand	9150	CTDP1	ORPHA:48431
HP:0009473	Joint contracture of the hand	8092	ALX1	ORPHA:306542
HP:0009473	Joint contracture of the hand	29895	MYL11	OMIM:619110
HP:0009473	Joint contracture of the hand	64840	PORCN	ORPHA:2092
HP:0009473	Joint contracture of the hand	23443	SLC35A3	OMIM:615553
HP:0009473	Joint contracture of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0009473	Joint contracture of the hand	1836	SLC26A2	ORPHA:628
HP:0009473	Joint contracture of the hand	25914	RTTN	ORPHA:468631
HP:0009473	Joint contracture of the hand	9935	MAFB	ORPHA:2774
HP:0009473	Joint contracture of the hand	28952	CCDC22	OMIM:300963
HP:0009473	Joint contracture of the hand	8450	CUL4B	ORPHA:85293
HP:0009473	Joint contracture of the hand	1303	COL12A1	ORPHA:610
HP:0009473	Joint contracture of the hand	1291	COL6A1	ORPHA:610
HP:0009473	Joint contracture of the hand	1291	COL6A1	OMIM:158810
HP:0009473	Joint contracture of the hand	1292	COL6A2	ORPHA:610
HP:0009473	Joint contracture of the hand	1292	COL6A2	OMIM:158810
HP:0009473	Joint contracture of the hand	1293	COL6A3	ORPHA:610
HP:0009473	Joint contracture of the hand	1293	COL6A3	OMIM:158810
HP:0009473	Joint contracture of the hand	26092	TOR1AIP1	OMIM:617072
HP:0009473	Joint contracture of the hand	8242	KDM5C	ORPHA:85279
HP:0009473	Joint contracture of the hand	59341	TRPV4	ORPHA:2635
HP:0009473	Joint contracture of the hand	2261	FGFR3	ORPHA:85164
HP:0009473	Joint contracture of the hand	4000	LMNA	ORPHA:1662
HP:0009473	Joint contracture of the hand	10269	ZMPSTE24	ORPHA:1662
HP:0009473	Joint contracture of the hand	1146	CHRNG	ORPHA:2990
HP:0009473	Joint contracture of the hand	23522	KAT6B	ORPHA:3047
HP:0009473	Joint contracture of the hand	26123	TCTN3	ORPHA:2753
HP:0009473	Joint contracture of the hand	64131	XYLT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	124583	CANT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	23529	CLCF1	ORPHA:1545
HP:0009473	Joint contracture of the hand	9244	CRLF1	ORPHA:1545
HP:0009473	Joint contracture of the hand	51002	TPRKB	ORPHA:2065
HP:0009473	Joint contracture of the hand	84942	WDR73	ORPHA:2065
HP:0009473	Joint contracture of the hand	55644	OSGEP	ORPHA:2065
HP:0009473	Joint contracture of the hand	57122	NUP107	ORPHA:2065
HP:0009473	Joint contracture of the hand	10785	WDR4	ORPHA:2065
HP:0009473	Joint contracture of the hand	55746	NUP133	ORPHA:2065
HP:0009473	Joint contracture of the hand	112858	TP53RK	ORPHA:2065
HP:0009473	Joint contracture of the hand	8270	LAGE3	ORPHA:2065
HP:0009473	Joint contracture of the hand	5696	PSMB8	OMIM:256040
HP:0009473	Joint contracture of the hand	56916	SMARCAD1	ORPHA:1658
HP:0006097	3-4 finger syndactyly	64840	PORCN	OMIM:305600
HP:0006097	3-4 finger syndactyly	3239	HOXD13	OMIM:186000
HP:0006097	3-4 finger syndactyly	3239	HOXD13	ORPHA:93406
HP:0006097	3-4 finger syndactyly	1947	EFNB1	OMIM:304110
HP:0006097	3-4 finger syndactyly	6299	SALL1	OMIM:107480
HP:0006097	3-4 finger syndactyly	1832	DSP	ORPHA:158687
HP:0006097	3-4 finger syndactyly	3728	JUP	ORPHA:158687
HP:0006097	3-4 finger syndactyly	2737	GLI3	OMIM:174700
HP:0006097	3-4 finger syndactyly	2737	GLI3	OMIM:175700
HP:0006097	3-4 finger syndactyly	1001	CDH3	OMIM:225280
HP:0006097	3-4 finger syndactyly	79639	TMEM53	OMIM:619727
HP:0006097	3-4 finger syndactyly	10586	MAB21L2	OMIM:615877
HP:0006097	3-4 finger syndactyly	65250	CPLANE1	OMIM:614615
HP:0006097	3-4 finger syndactyly	727857	BHLHA9	OMIM:609432
HP:0006099	Metacarpophalangeal joint hyperextensibility	1281	COL3A1	OMIM:130050
HP:0006099	Metacarpophalangeal joint hyperextensibility	9469	CHST3	OMIM:245600
HP:0006099	Metacarpophalangeal joint hyperextensibility	26229	B3GAT3	OMIM:245600
HP:0006099	Metacarpophalangeal joint hyperextensibility	2332	FMR1	OMIM:300624
HP:0001004	Lymphedema	64132	XYLT2	OMIM:605822
HP:0001004	Lymphedema	9780	PIEZO1	OMIM:616843
HP:0001004	Lymphedema	79633	FAT4	OMIM:616006
HP:0001004	Lymphedema	79633	FAT4	ORPHA:2136
HP:0001004	Lymphedema	79633	FAT4	ORPHA:314679
HP:0001004	Lymphedema	9508	ADAMTS3	ORPHA:2136
HP:0001004	Lymphedema	9508	ADAMTS3	OMIM:618154
HP:0001004	Lymphedema	147372	CCBE1	ORPHA:2136
HP:0001004	Lymphedema	147372	CCBE1	OMIM:235510
HP:0001004	Lymphedema	998	CDC42	ORPHA:487796
HP:0001004	Lymphedema	998	CDC42	OMIM:616737
HP:0001004	Lymphedema	5784	PTPN14	OMIM:613611
HP:0001004	Lymphedema	118429	ANTXR2	ORPHA:2176
HP:0001004	Lymphedema	5728	PTEN	ORPHA:109
HP:0001004	Lymphedema	5728	PTEN	ORPHA:744
HP:0001004	Lymphedema	3636	INPPL1	ORPHA:3144
HP:0001004	Lymphedema	23169	SLC35D1	ORPHA:3144
HP:0001004	Lymphedema	85358	SHANK3	OMIM:606232
HP:0001004	Lymphedema	85358	SHANK3	ORPHA:48652
HP:0001004	Lymphedema	596	BCL2	ORPHA:545
HP:0001004	Lymphedema	3492	IGH	ORPHA:545
HP:0001004	Lymphedema	3123	HLA-DRB1	ORPHA:545
HP:0001004	Lymphedema	604	BCL6	ORPHA:545
HP:0001004	Lymphedema	5649	RELN	OMIM:257320
HP:0001004	Lymphedema	2624	GATA2	ORPHA:3226
HP:0001004	Lymphedema	2624	GATA2	OMIM:614038
HP:0001004	Lymphedema	207	AKT1	ORPHA:744
HP:0001004	Lymphedema	10060	ABCC9	OMIM:239850
HP:0001004	Lymphedema	2990	GUSB	ORPHA:584
HP:0001004	Lymphedema	7075	TIE1	OMIM:619401
HP:0001004	Lymphedema	285	ANGPT2	OMIM:619369
HP:0001004	Lymphedema	5594	MAPK1	OMIM:619087
HP:0001004	Lymphedema	3832	KIF11	ORPHA:2526
HP:0001004	Lymphedema	3832	KIF11	OMIM:152950
HP:0001004	Lymphedema	5921	RASA1	ORPHA:137667
HP:0001004	Lymphedema	8642	DCHS1	ORPHA:314679
HP:0001004	Lymphedema	7248	TSC1	ORPHA:538
HP:0001004	Lymphedema	7249	TSC2	ORPHA:538
HP:0001004	Lymphedema	114548	NLRP3	OMIM:607115
HP:0001004	Lymphedema	5373	PMM2	ORPHA:79318
HP:0001004	Lymphedema	4693	NDP	ORPHA:891
HP:0001004	Lymphedema	1499	CTNNB1	ORPHA:891
HP:0001004	Lymphedema	23554	TSPAN12	ORPHA:891
HP:0001004	Lymphedema	4041	LRP5	ORPHA:891
HP:0001004	Lymphedema	79797	ZNF408	ORPHA:891
HP:0001004	Lymphedema	8322	FZD4	ORPHA:891
HP:0001004	Lymphedema	2717	GLA	OMIM:301500
HP:0001004	Lymphedema	2717	GLA	ORPHA:324
HP:0001004	Lymphedema	1020	CDK5	OMIM:616342
HP:0001004	Lymphedema	8260	NAA10	OMIM:300855
HP:0001004	Lymphedema	4668	NAGA	ORPHA:79280
HP:0001004	Lymphedema	4668	NAGA	OMIM:609242
HP:0001004	Lymphedema	4668	NAGA	ORPHA:79279
HP:0001004	Lymphedema	5604	MAP2K1	ORPHA:1340
HP:0001004	Lymphedema	5604	MAP2K1	OMIM:163950
HP:0001004	Lymphedema	5605	MAP2K2	ORPHA:1340
HP:0001004	Lymphedema	3845	KRAS	ORPHA:1340
HP:0001004	Lymphedema	3845	KRAS	ORPHA:648
HP:0001004	Lymphedema	3845	KRAS	OMIM:600268
HP:0001004	Lymphedema	673	BRAF	ORPHA:1340
HP:0001004	Lymphedema	673	BRAF	OMIM:163950
HP:0001004	Lymphedema	22800	RRAS2	ORPHA:648
HP:0001004	Lymphedema	867	CBL	ORPHA:648
HP:0001004	Lymphedema	867	CBL	OMIM:613563
HP:0001004	Lymphedema	8216	LZTR1	ORPHA:648
HP:0001004	Lymphedema	6016	RIT1	ORPHA:648
HP:0001004	Lymphedema	6237	RRAS	ORPHA:648
HP:0001004	Lymphedema	5894	RAF1	ORPHA:648
HP:0001004	Lymphedema	22808	MRAS	ORPHA:648
HP:0001004	Lymphedema	200734	SPRED2	ORPHA:648
HP:0001004	Lymphedema	4893	NRAS	ORPHA:648
HP:0001004	Lymphedema	6654	SOS1	ORPHA:648
HP:0001004	Lymphedema	6655	SOS2	ORPHA:648
HP:0001004	Lymphedema	5781	PTPN11	ORPHA:648
HP:0001004	Lymphedema	5781	PTPN11	OMIM:163950
HP:0001004	Lymphedema	5922	RASA2	ORPHA:648
HP:0001004	Lymphedema	55901	THSD1	OMIM:620244
HP:0001004	Lymphedema	23592	LEMD3	ORPHA:1306
HP:0001004	Lymphedema	3930	LBR	ORPHA:1426
HP:0001004	Lymphedema	8517	IKBKG	OMIM:300291
HP:0001004	Lymphedema	3265	HRAS	ORPHA:2874
HP:0001004	Lymphedema	5290	PIK3CA	OMIM:613089
HP:0001004	Lymphedema	80208	SPG11	ORPHA:2822
HP:0001004	Lymphedema	29969	MDFIC	OMIM:620014
HP:0001004	Lymphedema	374654	KIF7	OMIM:607131
HP:0001004	Lymphedema	7424	VEGFC	OMIM:615907
HP:0001004	Lymphedema	54345	SOX18	OMIM:607823
HP:0001004	Lymphedema	54345	SOX18	ORPHA:69735
HP:0001004	Lymphedema	2324	FLT4	OMIM:153100
HP:0001004	Lymphedema	2324	FLT4	ORPHA:79452
HP:0001004	Lymphedema	2303	FOXC2	OMIM:153400
HP:0001004	Lymphedema	2303	FOXC2	ORPHA:33001
HP:0001004	Lymphedema	9620	CELSR1	OMIM:619319
HP:0001004	Lymphedema	1786	DNMT1	ORPHA:314404
HP:0001004	Lymphedema	1786	DNMT1	OMIM:604121
HP:0001004	Lymphedema	57165	GJC2	ORPHA:79452
HP:0001004	Lymphedema	2050	EPHB4	ORPHA:90186
HP:0003606	Absent urinary urothione	4337	MOCS1	OMIM:252150
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	OMIM:276710
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	OMIM:140350
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	ORPHA:2118
HP:0003607	4-hydroxyphenylacetic aciduria	7019	TFAM	OMIM:617156
HP:0012605	Hypernatriuria	1583	CYP11A1	ORPHA:289548
HP:0012605	Hypernatriuria	1583	CYP11A1	ORPHA:168558
HP:0012605	Hypernatriuria	56246	MRAP	ORPHA:361
HP:0012605	Hypernatriuria	6770	STAR	ORPHA:361
HP:0012605	Hypernatriuria	4158	MC2R	ORPHA:361
HP:0012605	Hypernatriuria	23530	NNT	ORPHA:361
HP:0012605	Hypernatriuria	10587	TXNRD2	ORPHA:361
HP:0012605	Hypernatriuria	1187	CLCNKA	OMIM:613090
HP:0012605	Hypernatriuria	1188	CLCNKB	OMIM:613090
HP:0012605	Hypernatriuria	7809	BSND	OMIM:602522
HP:0012605	Hypernatriuria	554	AVPR2	OMIM:300539
HP:0003609	Foam cells with lamellar inclusion bodies	6609	SMPD1	OMIM:607616
HP:0003609	Foam cells with lamellar inclusion bodies	6609	SMPD1	OMIM:257200
HP:0003609	Foam cells with lamellar inclusion bodies	6309	SC5D	OMIM:607330
HP:0003119	Abnormal circulating lipid concentration	83483	PLVAP	OMIM:618183
HP:0003119	Abnormal circulating lipid concentration	2235	FECH	OMIM:177000
HP:0003119	Abnormal circulating lipid concentration	201294	UNC13D	OMIM:608898
HP:0003119	Abnormal circulating lipid concentration	201294	UNC13D	ORPHA:540
HP:0003119	Abnormal circulating lipid concentration	286053	NSMCE2	OMIM:617253
HP:0003119	Abnormal circulating lipid concentration	286053	NSMCE2	ORPHA:436182
HP:0003119	Abnormal circulating lipid concentration	55388	MCM10	OMIM:619313
HP:0003119	Abnormal circulating lipid concentration	331	XIAP	OMIM:300635
HP:0003119	Abnormal circulating lipid concentration	4160	MC4R	ORPHA:71529
HP:0003119	Abnormal circulating lipid concentration	3990	LIPC	OMIM:614025
HP:0003119	Abnormal circulating lipid concentration	3990	LIPC	ORPHA:140905
HP:0003119	Abnormal circulating lipid concentration	857	CAV1	OMIM:612526
HP:0003119	Abnormal circulating lipid concentration	857	CAV1	OMIM:606721
HP:0003119	Abnormal circulating lipid concentration	857	CAV1	ORPHA:528
HP:0003119	Abnormal circulating lipid concentration	5551	PRF1	ORPHA:540
HP:0003119	Abnormal circulating lipid concentration	5551	PRF1	OMIM:603553
HP:0003119	Abnormal circulating lipid concentration	8676	STX11	ORPHA:540
HP:0003119	Abnormal circulating lipid concentration	8676	STX11	OMIM:603552
HP:0003119	Abnormal circulating lipid concentration	6813	STXBP2	ORPHA:540
HP:0003119	Abnormal circulating lipid concentration	6813	STXBP2	OMIM:613101
HP:0003119	Abnormal circulating lipid concentration	26580	BSCL2	ORPHA:363400
HP:0003119	Abnormal circulating lipid concentration	26580	BSCL2	OMIM:615924
HP:0003119	Abnormal circulating lipid concentration	26580	BSCL2	OMIM:269700
HP:0003119	Abnormal circulating lipid concentration	26580	BSCL2	ORPHA:528
HP:0003119	Abnormal circulating lipid concentration	2314	FLII	ORPHA:819
HP:0003119	Abnormal circulating lipid concentration	23096	IQSEC2	ORPHA:819
HP:0003119	Abnormal circulating lipid concentration	10743	RAI1	ORPHA:819
HP:0003119	Abnormal circulating lipid concentration	10743	RAI1	OMIM:182290
HP:0003119	Abnormal circulating lipid concentration	10522	DEAF1	ORPHA:819
HP:0003119	Abnormal circulating lipid concentration	3952	LEP	ORPHA:66628
HP:0003119	Abnormal circulating lipid concentration	7486	WRN	OMIM:277700
HP:0003119	Abnormal circulating lipid concentration	2710	GK	OMIM:307030
HP:0003119	Abnormal circulating lipid concentration	5699	PSMB10	OMIM:619175
HP:0003119	Abnormal circulating lipid concentration	50619	DEF6	OMIM:619573
HP:0003119	Abnormal circulating lipid concentration	9149	DYRK1B	OMIM:615812
HP:0003119	Abnormal circulating lipid concentration	5346	PLIN1	OMIM:613877
HP:0003119	Abnormal circulating lipid concentration	5346	PLIN1	ORPHA:280356
HP:0003119	Abnormal circulating lipid concentration	5257	PHKB	ORPHA:79240
HP:0003119	Abnormal circulating lipid concentration	284654	RSPO1	OMIM:610644
HP:0003119	Abnormal circulating lipid concentration	1581	CYP7A1	ORPHA:209902
HP:0003119	Abnormal circulating lipid concentration	10555	AGPAT2	OMIM:608594
HP:0003119	Abnormal circulating lipid concentration	10555	AGPAT2	ORPHA:528
HP:0003119	Abnormal circulating lipid concentration	1130	LYST	ORPHA:167
HP:0003119	Abnormal circulating lipid concentration	5424	POLD1	OMIM:615381
HP:0003119	Abnormal circulating lipid concentration	5283	PIGH	OMIM:618010
HP:0003119	Abnormal circulating lipid concentration	3953	LEPR	ORPHA:179494
HP:0003119	Abnormal circulating lipid concentration	165	AEBP1	ORPHA:536532
HP:0003119	Abnormal circulating lipid concentration	8879	SGPL1	OMIM:617575
HP:0003119	Abnormal circulating lipid concentration	51604	PIGT	ORPHA:369837
HP:0003119	Abnormal circulating lipid concentration	11128	POLR3A	OMIM:264090
HP:0003119	Abnormal circulating lipid concentration	11128	POLR3A	ORPHA:3455
HP:0003119	Abnormal circulating lipid concentration	4040	LRP6	OMIM:610947
HP:0003119	Abnormal circulating lipid concentration	84868	HAVCR2	OMIM:618398
HP:0003119	Abnormal circulating lipid concentration	5261	PHKG2	OMIM:613027
HP:0003119	Abnormal circulating lipid concentration	5261	PHKG2	ORPHA:264580
HP:0003119	Abnormal circulating lipid concentration	182	JAG1	OMIM:118450
HP:0003119	Abnormal circulating lipid concentration	6514	SLC2A2	ORPHA:2088
HP:0003119	Abnormal circulating lipid concentration	7274	TTPA	OMIM:277460
HP:0003119	Abnormal circulating lipid concentration	5294	PIK3CG	OMIM:619802
HP:0003119	Abnormal circulating lipid concentration	7518	XRCC4	ORPHA:436182
HP:0003119	Abnormal circulating lipid concentration	51128	SAR1B	ORPHA:71
HP:0003119	Abnormal circulating lipid concentration	2819	GPD1	OMIM:614480
HP:0003119	Abnormal circulating lipid concentration	5692	PSMB4	OMIM:617591
HP:0003119	Abnormal circulating lipid concentration	5698	PSMB9	OMIM:617591
HP:0003119	Abnormal circulating lipid concentration	2193	FARSA	OMIM:619013
HP:0003119	Abnormal circulating lipid concentration	8565	YARS1	OMIM:619418
HP:0003119	Abnormal circulating lipid concentration	51099	ABHD5	ORPHA:98907
HP:0003119	Abnormal circulating lipid concentration	284119	CAVIN1	ORPHA:528
HP:0003119	Abnormal circulating lipid concentration	284119	CAVIN1	OMIM:613327
HP:0003119	Abnormal circulating lipid concentration	2353	FOS	ORPHA:528
HP:0003119	Abnormal circulating lipid concentration	2273	FHL1	ORPHA:98863
HP:0003119	Abnormal circulating lipid concentration	2010	EMD	ORPHA:98863
HP:0003119	Abnormal circulating lipid concentration	64788	LMF1	OMIM:246650
HP:0003119	Abnormal circulating lipid concentration	5256	PHKA2	ORPHA:264580
HP:0003119	Abnormal circulating lipid concentration	5256	PHKA2	OMIM:306000
HP:0003119	Abnormal circulating lipid concentration	344	APOC2	OMIM:207750
HP:0003119	Abnormal circulating lipid concentration	55315	SLC29A3	ORPHA:168569
HP:0003119	Abnormal circulating lipid concentration	79188	TMEM43	ORPHA:98853
HP:0003119	Abnormal circulating lipid concentration	23345	SYNE1	ORPHA:98853
HP:0003119	Abnormal circulating lipid concentration	23224	SYNE2	ORPHA:98853
HP:0003119	Abnormal circulating lipid concentration	10269	ZMPSTE24	OMIM:608612
HP:0003119	Abnormal circulating lipid concentration	10269	ZMPSTE24	ORPHA:90154
HP:0003119	Abnormal circulating lipid concentration	3991	LIPE	ORPHA:435660
HP:0003119	Abnormal circulating lipid concentration	3991	LIPE	OMIM:615980
HP:0003119	Abnormal circulating lipid concentration	5566	PRKACA	ORPHA:189439
HP:0003119	Abnormal circulating lipid concentration	8622	PDE8B	ORPHA:189439
HP:0003119	Abnormal circulating lipid concentration	5573	PRKAR1A	ORPHA:189439
HP:0003119	Abnormal circulating lipid concentration	50940	PDE11A	ORPHA:189439
HP:0003119	Abnormal circulating lipid concentration	5836	PYGL	OMIM:232700
HP:0003119	Abnormal circulating lipid concentration	5836	PYGL	ORPHA:369
HP:0003119	Abnormal circulating lipid concentration	80067	DCAF17	ORPHA:3464
HP:0003119	Abnormal circulating lipid concentration	80067	DCAF17	OMIM:241080
HP:0003119	Abnormal circulating lipid concentration	4023	LPL	OMIM:238600
HP:0003119	Abnormal circulating lipid concentration	4023	LPL	OMIM:144250
HP:0003119	Abnormal circulating lipid concentration	2542	SLC37A4	OMIM:232220
HP:0003119	Abnormal circulating lipid concentration	2542	SLC37A4	ORPHA:79259
HP:0003119	Abnormal circulating lipid concentration	2542	SLC37A4	OMIM:232240
HP:0003119	Abnormal circulating lipid concentration	81	ACTN4	OMIM:603278
HP:0003119	Abnormal circulating lipid concentration	213	ALB	ORPHA:86816
HP:0003119	Abnormal circulating lipid concentration	57104	PNPLA2	ORPHA:565612
HP:0003119	Abnormal circulating lipid concentration	3998	LMAN1	ORPHA:35909
HP:0003119	Abnormal circulating lipid concentration	90411	MCFD2	ORPHA:35909
HP:0003119	Abnormal circulating lipid concentration	25970	SH2B1	ORPHA:329249
HP:0003119	Abnormal circulating lipid concentration	63924	CIDEC	ORPHA:435651
HP:0003119	Abnormal circulating lipid concentration	50485	SMARCAL1	ORPHA:1830
HP:0003119	Abnormal circulating lipid concentration	79798	ARMC5	ORPHA:189427
HP:0003119	Abnormal circulating lipid concentration	2778	GNAS	ORPHA:189427
HP:0003119	Abnormal circulating lipid concentration	2998	GYS2	ORPHA:2089
HP:0003119	Abnormal circulating lipid concentration	10342	TFG	OMIM:604484
HP:0003119	Abnormal circulating lipid concentration	10651	MTX2	ORPHA:90153
HP:0003119	Abnormal circulating lipid concentration	4868	NPHS1	OMIM:256300
HP:0003119	Abnormal circulating lipid concentration	3949	LDLR	ORPHA:391665
HP:0003119	Abnormal circulating lipid concentration	255738	PCSK9	ORPHA:391665
HP:0003119	Abnormal circulating lipid concentration	26119	LDLRAP1	ORPHA:391665
HP:0003119	Abnormal circulating lipid concentration	64240	ABCG5	ORPHA:391665
HP:0003119	Abnormal circulating lipid concentration	64241	ABCG8	ORPHA:391665
HP:0003119	Abnormal circulating lipid concentration	7827	NPHS2	OMIM:600995
HP:0003119	Abnormal circulating lipid concentration	178	AGL	OMIM:232400
HP:0003119	Abnormal circulating lipid concentration	2538	G6PC1	OMIM:232200
HP:0003119	Abnormal circulating lipid concentration	208	AKT2	ORPHA:79085
HP:0003119	Abnormal circulating lipid concentration	2717	GLA	ORPHA:324
HP:0003119	Abnormal circulating lipid concentration	1376	CPT2	ORPHA:228308
HP:0003119	Abnormal circulating lipid concentration	1071	CETP	ORPHA:79506
HP:0003119	Abnormal circulating lipid concentration	345	APOC3	ORPHA:79506
HP:0003119	Abnormal circulating lipid concentration	8694	DGAT1	OMIM:615863
HP:0003119	Abnormal circulating lipid concentration	109	ADCY3	OMIM:617885
HP:0003119	Abnormal circulating lipid concentration	4644	MYO5A	ORPHA:79476
HP:0003119	Abnormal circulating lipid concentration	3075	CFH	OMIM:235400
HP:0003119	Abnormal circulating lipid concentration	3078	CFHR1	OMIM:235400
HP:0003119	Abnormal circulating lipid concentration	10878	CFHR3	OMIM:235400
HP:0003119	Abnormal circulating lipid concentration	5873	RAB27A	ORPHA:79477
HP:0003119	Abnormal circulating lipid concentration	1588	CYP19A1	ORPHA:91
HP:0003119	Abnormal circulating lipid concentration	1718	DHCR24	OMIM:602398
HP:0003119	Abnormal circulating lipid concentration	3064	HTT	ORPHA:399
HP:0003119	Abnormal circulating lipid concentration	6515	SLC2A3	ORPHA:399
HP:0003119	Abnormal circulating lipid concentration	1583	CYP11A1	ORPHA:289548
HP:0003119	Abnormal circulating lipid concentration	1583	CYP11A1	ORPHA:168558
HP:0003119	Abnormal circulating lipid concentration	1593	CYP27A1	OMIM:213700
HP:0003119	Abnormal circulating lipid concentration	9420	CYP7B1	OMIM:270800
HP:0003119	Abnormal circulating lipid concentration	50814	NSDHL	ORPHA:251383
HP:0003119	Abnormal circulating lipid concentration	6309	SC5D	OMIM:607330
HP:0003119	Abnormal circulating lipid concentration	367	AR	ORPHA:481
HP:0003119	Abnormal circulating lipid concentration	3594	IL12RB1	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	23534	TNPO3	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	3592	IL12A	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	6689	SPIB	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	5450	POU2AF1	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	9966	TNFSF15	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	79258	MMEL1	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	3663	IRF5	ORPHA:186
HP:0003119	Abnormal circulating lipid concentration	84823	LMNB2	OMIM:608709
HP:0003119	Abnormal circulating lipid concentration	2200	FBN1	ORPHA:2833
HP:0003119	Abnormal circulating lipid concentration	93627	TBCK	ORPHA:488632
HP:0003119	Abnormal circulating lipid concentration	6804	STX1A	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	7461	CLIP2	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	84277	DNAJC30	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	8468	FKBP6	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	5982	RFC2	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	2969	GTF2I	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	3984	LIMK1	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	9569	GTF2IRD1	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	155382	VPS37D	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	155368	METTL27	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	114049	BUD23	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	7458	EIF4H	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	84163	GTF2IRD2	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	9275	BCL7B	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	26608	TBL2	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	653361	NCF1	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	135886	TMEM270	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	51085	MLXIPL	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	9031	BAZ1B	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	2006	ELN	ORPHA:904
HP:0003119	Abnormal circulating lipid concentration	4567	MT-TL1	ORPHA:225
HP:0003119	Abnormal circulating lipid concentration	4566	MT-TK	ORPHA:225
HP:0003119	Abnormal circulating lipid concentration	26160	IFT172	OMIM:619471
HP:0003119	Abnormal circulating lipid concentration	388015	RTL1	ORPHA:254531
HP:0003119	Abnormal circulating lipid concentration	388015	RTL1	ORPHA:96184
HP:0003119	Abnormal circulating lipid concentration	8788	DLK1	ORPHA:254531
HP:0003119	Abnormal circulating lipid concentration	8788	DLK1	ORPHA:96184
HP:0003119	Abnormal circulating lipid concentration	55384	MEG3	ORPHA:254531
HP:0003119	Abnormal circulating lipid concentration	55384	MEG3	ORPHA:96184
HP:0003119	Abnormal circulating lipid concentration	23533	PIK3R5	ORPHA:64753
HP:0003119	Abnormal circulating lipid concentration	23064	SETX	ORPHA:64753
HP:0003119	Abnormal circulating lipid concentration	57122	NUP107	OMIM:618348
HP:0003119	Abnormal circulating lipid concentration	57122	NUP107	OMIM:616730
HP:0003119	Abnormal circulating lipid concentration	55775	TDP1	ORPHA:94124
HP:0003119	Abnormal circulating lipid concentration	55775	TDP1	OMIM:607250
HP:0003119	Abnormal circulating lipid concentration	4952	OCRL	OMIM:309000
HP:0003119	Abnormal circulating lipid concentration	4952	OCRL	ORPHA:534
HP:0003119	Abnormal circulating lipid concentration	5244	ABCB4	ORPHA:69663
HP:0003119	Abnormal circulating lipid concentration	859	CAV3	ORPHA:488650
HP:0003119	Abnormal circulating lipid concentration	4205	MEF2A	OMIM:608320
HP:0003119	Abnormal circulating lipid concentration	7252	TSHB	ORPHA:90674
HP:0003119	Abnormal circulating lipid concentration	25839	COG4	ORPHA:263501
HP:0003119	Abnormal circulating lipid concentration	79989	IFT56	OMIM:619534
HP:0003119	Abnormal circulating lipid concentration	11284	PNKP	OMIM:616267
HP:0003119	Abnormal circulating lipid concentration	537	ATP6AP1	OMIM:300972
HP:0003119	Abnormal circulating lipid concentration	1733	DIO1	OMIM:619855
HP:0003119	Abnormal circulating lipid concentration	147007	TMEM199	OMIM:616829
HP:0003119	Abnormal circulating lipid concentration	84317	CCDC115	OMIM:616828
HP:0003119	Abnormal circulating lipid concentration	6907	TBL1X	OMIM:301033
HP:0003119	Abnormal circulating lipid concentration	113220	KIF12	OMIM:619662
HP:0003119	Abnormal circulating lipid concentration	54840	APTX	OMIM:208920
HP:0003119	Abnormal circulating lipid concentration	4645	MYO5B	OMIM:619868
HP:0003119	Abnormal circulating lipid concentration	55186	SLC25A36	OMIM:620211
HP:0003119	Abnormal circulating lipid concentration	2690	GHR	ORPHA:633
HP:0003119	Abnormal circulating lipid concentration	2584	GALK1	ORPHA:79237
HP:0003119	Abnormal circulating lipid concentration	336	APOA2	OMIM:143890
HP:0003119	Abnormal circulating lipid concentration	2053	EPHX2	OMIM:143890
HP:0003119	Abnormal circulating lipid concentration	10842	PPP1R17	OMIM:143890
HP:0003119	Abnormal circulating lipid concentration	20	ABCA2	OMIM:618808
HP:0003119	Abnormal circulating lipid concentration	80270	HSD3B7	OMIM:607765
HP:0003119	Abnormal circulating lipid concentration	89910	UBE3B	OMIM:244450
HP:0003119	Abnormal circulating lipid concentration	5406	PNLIP	OMIM:614338
HP:0003119	Abnormal circulating lipid concentration	55210	ATAD3A	OMIM:618810
HP:0003119	Abnormal circulating lipid concentration	201163	FLCN	OMIM:610883
HP:0003119	Abnormal circulating lipid concentration	5373	PMM2	OMIM:212065
HP:0003119	Abnormal circulating lipid concentration	5660	PSAP	OMIM:610539
HP:0003119	Abnormal circulating lipid concentration	79087	ALG12	ORPHA:79324
HP:0003119	Abnormal circulating lipid concentration	4000	LMNA	ORPHA:280365
HP:0003119	Abnormal circulating lipid concentration	4000	LMNA	OMIM:151660
HP:0003119	Abnormal circulating lipid concentration	9056	SLC7A7	ORPHA:470
HP:0003119	Abnormal circulating lipid concentration	6609	SMPD1	ORPHA:77293
HP:0003119	Abnormal circulating lipid concentration	6609	SMPD1	OMIM:607616
HP:0003119	Abnormal circulating lipid concentration	63036	CELA2A	OMIM:618620
HP:0003119	Abnormal circulating lipid concentration	2590	GALNT2	OMIM:618885
HP:0003119	Abnormal circulating lipid concentration	335	APOA1	OMIM:618463
HP:0003119	Abnormal circulating lipid concentration	335	APOA1	OMIM:619836
HP:0003119	Abnormal circulating lipid concentration	335	APOA1	ORPHA:425
HP:0003119	Abnormal circulating lipid concentration	3988	LIPA	OMIM:278000
HP:0003119	Abnormal circulating lipid concentration	19	ABCA1	OMIM:604091
HP:0003119	Abnormal circulating lipid concentration	19	ABCA1	OMIM:205400
HP:0003119	Abnormal circulating lipid concentration	19	ABCA1	ORPHA:425
HP:0003119	Abnormal circulating lipid concentration	10165	SLC25A13	ORPHA:247585
HP:0003119	Abnormal circulating lipid concentration	10165	SLC25A13	OMIM:605814
HP:0003119	Abnormal circulating lipid concentration	10165	SLC25A13	ORPHA:247598
HP:0003119	Abnormal circulating lipid concentration	338	APOB	OMIM:615558
HP:0003119	Abnormal circulating lipid concentration	7840	ALMS1	OMIM:203800
HP:0003119	Abnormal circulating lipid concentration	4547	MTTP	ORPHA:14
HP:0003119	Abnormal circulating lipid concentration	3931	LCAT	OMIM:245900
HP:0003119	Abnormal circulating lipid concentration	3931	LCAT	OMIM:136120
HP:0003119	Abnormal circulating lipid concentration	3931	LCAT	ORPHA:79292
HP:0003119	Abnormal circulating lipid concentration	5468	PPARG	OMIM:604367
HP:0003119	Abnormal circulating lipid concentration	84699	CREB3L3	OMIM:619324
HP:0003119	Abnormal circulating lipid concentration	116519	APOA5	OMIM:144650
HP:0003119	Abnormal circulating lipid concentration	84984	CEP19	OMIM:615703
HP:0003119	Abnormal circulating lipid concentration	6307	MSMO1	OMIM:616834
HP:0003119	Abnormal circulating lipid concentration	5696	PSMB8	OMIM:256040
HP:0003119	Abnormal circulating lipid concentration	338328	GPIHBP1	OMIM:615947
HP:0003119	Abnormal circulating lipid concentration	348	APOE	ORPHA:412
HP:0003119	Abnormal circulating lipid concentration	1497	CTNS	OMIM:219800
HP:0003119	Abnormal circulating lipid concentration	1738	DLD	ORPHA:2394
HP:0003119	Abnormal circulating lipid concentration	3155	HMGCL	OMIM:246450
HP:0003119	Abnormal circulating lipid concentration	4556	MT-TE	ORPHA:254864
HP:0003119	Abnormal circulating lipid concentration	55687	TRMU	ORPHA:254864
HP:0003119	Abnormal circulating lipid concentration	37	ACADVL	OMIM:201475
HP:0003119	Abnormal circulating lipid concentration	4695	NDUFA2	OMIM:618235
HP:0003119	Abnormal circulating lipid concentration	34	ACADM	OMIM:201450
HP:0003119	Abnormal circulating lipid concentration	1294	COL7A1	ORPHA:89842
HP:0003119	Abnormal circulating lipid concentration	27034	ACAD8	OMIM:611283
HP:0003119	Abnormal circulating lipid concentration	27034	ACAD8	ORPHA:79159
HP:0003119	Abnormal circulating lipid concentration	3033	HADH	ORPHA:71212
HP:0003119	Abnormal circulating lipid concentration	28976	ACAD9	ORPHA:99901
HP:0003119	Abnormal circulating lipid concentration	64087	MCCC2	OMIM:210210
HP:0003119	Abnormal circulating lipid concentration	788	SLC25A20	ORPHA:159
HP:0003119	Abnormal circulating lipid concentration	1962	EHHADH	ORPHA:3337
HP:0003119	Abnormal circulating lipid concentration	2628	GATM	ORPHA:3337
HP:0003119	Abnormal circulating lipid concentration	137682	NDUFAF6	ORPHA:3337
HP:0003119	Abnormal circulating lipid concentration	6569	SLC34A1	ORPHA:3337
HP:0003119	Abnormal circulating lipid concentration	6584	SLC22A5	OMIM:212140
HP:0003119	Abnormal circulating lipid concentration	197131	UBR1	OMIM:243800
HP:0003119	Abnormal circulating lipid concentration	215	ABCD1	OMIM:300100
HP:0003119	Abnormal circulating lipid concentration	10682	EBP	ORPHA:401973
HP:0003119	Abnormal circulating lipid concentration	10682	EBP	OMIM:302960
HP:0003119	Abnormal circulating lipid concentration	29929	ALG6	ORPHA:79320
HP:0003119	Abnormal circulating lipid concentration	80025	PANK2	OMIM:607236
HP:0003119	Abnormal circulating lipid concentration	2683	B4GALT1	ORPHA:79332
HP:0003119	Abnormal circulating lipid concentration	6557	SLC12A1	OMIM:601678
HP:0003119	Abnormal circulating lipid concentration	3758	KCNJ1	OMIM:241200
HP:0003119	Abnormal circulating lipid concentration	3172	HNF4A	ORPHA:263455
HP:0003119	Abnormal circulating lipid concentration	1374	CPT1A	ORPHA:156
HP:0003119	Abnormal circulating lipid concentration	1374	CPT1A	OMIM:255120
HP:0003119	Abnormal circulating lipid concentration	6341	SCO1	OMIM:619048
HP:0003119	Abnormal circulating lipid concentration	1717	DHCR7	OMIM:270400
HP:0003119	Abnormal circulating lipid concentration	1717	DHCR7	ORPHA:818
HP:0003119	Abnormal circulating lipid concentration	55670	PEX26	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5824	PEX19	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5828	PEX2	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5828	PEX2	OMIM:614866
HP:0003119	Abnormal circulating lipid concentration	5828	PEX2	OMIM:614867
HP:0003119	Abnormal circulating lipid concentration	8504	PEX3	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	9409	PEX16	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	9409	PEX16	OMIM:614877
HP:0003119	Abnormal circulating lipid concentration	5190	PEX6	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	8799	PEX11B	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5830	PEX5	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5189	PEX1	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5193	PEX12	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5193	PEX12	OMIM:266510
HP:0003119	Abnormal circulating lipid concentration	5194	PEX13	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	5195	PEX14	ORPHA:772
HP:0003119	Abnormal circulating lipid concentration	23600	AMACR	OMIM:614307
HP:0003119	Abnormal circulating lipid concentration	5191	PEX7	OMIM:614879
HP:0003119	Abnormal circulating lipid concentration	5191	PEX7	OMIM:266500
HP:0003119	Abnormal circulating lipid concentration	5191	PEX7	OMIM:215100
HP:0003119	Abnormal circulating lipid concentration	5264	PHYH	OMIM:266500
HP:0003119	Abnormal circulating lipid concentration	5192	PEX10	ORPHA:247815
HP:0003119	Abnormal circulating lipid concentration	133686	NADK2	ORPHA:431361
HP:0003119	Abnormal circulating lipid concentration	4312	MMP1	ORPHA:79408
HP:0003119	Abnormal circulating lipid concentration	283209	PGM2L1	OMIM:620191
HP:0003119	Abnormal circulating lipid concentration	22948	CCT5	OMIM:256840
HP:0003119	Abnormal circulating lipid concentration	27329	ANGPTL3	OMIM:605019
HP:0003119	Abnormal circulating lipid concentration	55768	NGLY1	ORPHA:404454
HP:0003119	Abnormal circulating lipid concentration	5130	PCYT1A	ORPHA:85167
HP:0003119	Abnormal circulating lipid concentration	4056	LTC4S	OMIM:614037
HP:0003119	Abnormal circulating lipid concentration	22845	DOLK	OMIM:610768
HP:0003119	Abnormal circulating lipid concentration	132158	GLYCTK	ORPHA:941
HP:0003119	Abnormal circulating lipid concentration	25974	MMACHC	ORPHA:79282
HP:0003119	Abnormal circulating lipid concentration	84693	MCEE	OMIM:251120
HP:0003119	Abnormal circulating lipid concentration	5321	PLA2G4A	OMIM:618372
HP:0003119	Abnormal circulating lipid concentration	2222	FDFT1	OMIM:618156
HP:0003119	Abnormal circulating lipid concentration	55788	LMBRD1	OMIM:277380
HP:0003119	Abnormal circulating lipid concentration	5826	ABCD4	OMIM:614857
HP:0003119	Abnormal circulating lipid concentration	51241	COX16	OMIM:619355
HP:0003119	Abnormal circulating lipid concentration	23474	ETHE1	OMIM:602473
HP:0003119	Abnormal circulating lipid concentration	3295	HSD17B4	OMIM:261515
HP:0003119	Abnormal circulating lipid concentration	85021	REPS1	OMIM:617916
HP:0003119	Abnormal circulating lipid concentration	1174	AP1S1	OMIM:609313
HP:0003119	Abnormal circulating lipid concentration	10059	DNM1L	OMIM:614388
HP:0003119	Abnormal circulating lipid concentration	6342	SCP2	OMIM:613724
HP:0003119	Abnormal circulating lipid concentration	7941	PLA2G7	OMIM:614278
HP:0003119	Abnormal circulating lipid concentration	7351	UCP2	ORPHA:276556
HP:0003119	Abnormal circulating lipid concentration	6927	HNF1A	ORPHA:324575
HP:0003119	Abnormal circulating lipid concentration	6833	ABCC8	ORPHA:276575
HP:0003119	Abnormal circulating lipid concentration	3767	KCNJ11	ORPHA:79644
HP:0003119	Abnormal circulating lipid concentration	8309	ACOX2	OMIM:617308
HP:0003119	Abnormal circulating lipid concentration	35	ACADS	ORPHA:26792
HP:0003119	Abnormal circulating lipid concentration	55065	SLC52A1	OMIM:615026
HP:0003119	Abnormal circulating lipid concentration	128989	TANGO2	OMIM:616878
HP:0003119	Abnormal circulating lipid concentration	128989	TANGO2	ORPHA:480864
HP:0003119	Abnormal circulating lipid concentration	90624	LYRM7	OMIM:615838
HP:0003119	Abnormal circulating lipid concentration	3030	HADHA	OMIM:609015
HP:0003119	Abnormal circulating lipid concentration	8443	GNPAT	OMIM:222765
HP:0003612	Positive ferric chloride test	10841	FTCD	OMIM:229100
HP:0003613	Antiphospholipid antibody positivity	51816	ADA2	OMIM:182410
HP:0003613	Antiphospholipid antibody positivity	51816	ADA2	ORPHA:820
HP:0003613	Antiphospholipid antibody positivity	355	FAS	ORPHA:3261
HP:0003613	Antiphospholipid antibody positivity	355	FAS	OMIM:601859
HP:0003613	Antiphospholipid antibody positivity	356	FASLG	ORPHA:3261
HP:0003613	Antiphospholipid antibody positivity	356	FASLG	OMIM:601859
HP:0003613	Antiphospholipid antibody positivity	843	CASP10	ORPHA:3261
HP:0003613	Antiphospholipid antibody positivity	843	CASP10	OMIM:603909
HP:0003613	Antiphospholipid antibody positivity	10125	RASGRP1	ORPHA:3261
HP:0003613	Antiphospholipid antibody positivity	6772	STAT1	ORPHA:391487
HP:0003613	Antiphospholipid antibody positivity	10043	TOM1	ORPHA:391487
HP:0003613	Antiphospholipid antibody positivity	11277	TREX1	OMIM:225750
HP:0003613	Antiphospholipid antibody positivity	11277	TREX1	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	2212	FCGR2A	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	2213	FCGR2B	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	26191	PTPN22	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	1493	CTLA4	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	1773	DNASE1	OMIM:152700
HP:0003613	Antiphospholipid antibody positivity	340061	STING1	OMIM:615934
HP:0003613	Antiphospholipid antibody positivity	6775	STAT4	ORPHA:93552
HP:0003613	Antiphospholipid antibody positivity	6696	SPP1	ORPHA:93552
HP:0003613	Antiphospholipid antibody positivity	3654	IRAK1	ORPHA:93552
HP:0003613	Antiphospholipid antibody positivity	5580	PRKCD	OMIM:615559
HP:0003613	Antiphospholipid antibody positivity	50619	DEF6	OMIM:619573
HP:0003614	Trimethylaminuria	2328	FMO3	OMIM:602079
HP:0003614	Trimethylaminuria	2328	FMO3	ORPHA:468726
HP:0000848	Increased circulating renin level	10916	MAGED2	OMIM:300971
HP:0000848	Increased circulating renin level	7809	BSND	ORPHA:89938
HP:0000848	Increased circulating renin level	1188	CLCNKB	ORPHA:89938
HP:0000848	Increased circulating renin level	1188	CLCNKB	OMIM:607364
HP:0000848	Increased circulating renin level	1187	CLCNKA	ORPHA:89938
HP:0000848	Increased circulating renin level	3766	KCNJ10	OMIM:612780
HP:0000848	Increased circulating renin level	3766	KCNJ10	ORPHA:199343
HP:0000848	Increased circulating renin level	1583	CYP11A1	ORPHA:168558
HP:0000848	Increased circulating renin level	1583	CYP11A1	ORPHA:289548
HP:0000848	Increased circulating renin level	3643	INSR	ORPHA:508
HP:0000848	Increased circulating renin level	1585	CYP11B2	OMIM:203400
HP:0000848	Increased circulating renin level	1585	CYP11B2	OMIM:610600
HP:0000848	Increased circulating renin level	1585	CYP11B2	ORPHA:556030
HP:0000848	Increased circulating renin level	6340	SCNN1G	OMIM:620126
HP:0000848	Increased circulating renin level	6340	SCNN1G	ORPHA:171876
HP:0000848	Increased circulating renin level	6338	SCNN1B	OMIM:620125
HP:0000848	Increased circulating renin level	6338	SCNN1B	ORPHA:171876
HP:0000848	Increased circulating renin level	846	CASR	OMIM:601198
HP:0000848	Increased circulating renin level	6557	SLC12A1	OMIM:601678
HP:0000848	Increased circulating renin level	6337	SCNN1A	ORPHA:171876
HP:0000848	Increased circulating renin level	3758	KCNJ1	OMIM:241200
HP:0000848	Increased circulating renin level	4306	NR3C2	OMIM:177735
HP:0000848	Increased circulating renin level	6559	SLC12A3	OMIM:263800
HP:0000848	Increased circulating renin level	1811	SLC26A3	OMIM:214700
HP:0000848	Increased circulating renin level	3773	KCNJ16	OMIM:619406
HP:0000848	Increased circulating renin level	3284	HSD3B2	ORPHA:90791
HP:0003616	Premature separation of centromeric heterochromatin	157570	ESCO2	OMIM:268300
HP:0003623	Neonatal onset	3689	ITGB2	OMIM:116920
HP:0003623	Neonatal onset	3858	KRT10	OMIM:607602
HP:0003623	Neonatal onset	6555	SLC10A2	OMIM:613291
HP:0003623	Neonatal onset	4099	MAG	OMIM:616680
HP:0003623	Neonatal onset	29925	GMPPB	OMIM:615350
HP:0003623	Neonatal onset	29925	GMPPB	OMIM:615351
HP:0003623	Neonatal onset	51399	TRAPPC4	OMIM:618741
HP:0003623	Neonatal onset	23019	CNOT1	OMIM:618500
HP:0003623	Neonatal onset	57128	LYRM4	OMIM:615595
HP:0003623	Neonatal onset	343450	KCNT2	OMIM:617771
HP:0003623	Neonatal onset	2775	GNAO1	OMIM:615473
HP:0003623	Neonatal onset	2775	GNAO1	OMIM:617493
HP:0003623	Neonatal onset	4593	MUSK	OMIM:616325
HP:0003623	Neonatal onset	51126	NAA20	OMIM:619717
HP:0003623	Neonatal onset	1144	CHRND	OMIM:616323
HP:0003623	Neonatal onset	10059	DNM1L	OMIM:614388
HP:0003623	Neonatal onset	8710	SERPINB7	OMIM:615598
HP:0003623	Neonatal onset	1355	COX15	OMIM:615119
HP:0003623	Neonatal onset	9254	CACNA2D2	OMIM:618501
HP:0003623	Neonatal onset	5361	PLXNA1	OMIM:619955
HP:0003623	Neonatal onset	3008	H1-4	OMIM:617537
HP:0003623	Neonatal onset	81570	CLPB	OMIM:619835
HP:0003623	Neonatal onset	3703	STT3A	OMIM:619714
HP:0003623	Neonatal onset	755	CFAP410	OMIM:602271
HP:0003623	Neonatal onset	4552	MTRR	OMIM:236270
HP:0003623	Neonatal onset	7849	PAX8	OMIM:218700
HP:0003623	Neonatal onset	7259	TSPYL1	OMIM:608800
HP:0003623	Neonatal onset	9578	CDC42BPB	OMIM:619841
HP:0003623	Neonatal onset	65993	MRPS34	OMIM:617664
HP:0003623	Neonatal onset	396	ARHGDIA	OMIM:615244
HP:0003623	Neonatal onset	4141	MARS1	OMIM:615486
HP:0003623	Neonatal onset	1584	CYP11B1	OMIM:202010
HP:0003623	Neonatal onset	283489	CHAMP1	OMIM:616579
HP:0003623	Neonatal onset	387787	LIPT2	OMIM:617668
HP:0003623	Neonatal onset	477	ATP1A2	OMIM:619605
HP:0003623	Neonatal onset	478	ATP1A3	OMIM:619606
HP:0003623	Neonatal onset	2137	EXTL3	OMIM:617425
HP:0003623	Neonatal onset	318	NUDT2	OMIM:619844
HP:0003623	Neonatal onset	9200	HACD1	OMIM:619967
HP:0003623	Neonatal onset	5189	PEX1	OMIM:214100
HP:0003623	Neonatal onset	79147	FKRP	OMIM:606612
HP:0003623	Neonatal onset	535	ATP6V0A1	OMIM:619971
HP:0003623	Neonatal onset	55687	TRMU	OMIM:613070
HP:0003623	Neonatal onset	23250	ATP11A	OMIM:619851
HP:0003623	Neonatal onset	103	ADAR	OMIM:615010
HP:0003623	Neonatal onset	1777	DNASE2	OMIM:619858
HP:0003623	Neonatal onset	79797	ZNF408	OMIM:616468
HP:0003623	Neonatal onset	10352	WARS2	OMIM:619738
HP:0003623	Neonatal onset	7920	ABHD16A	OMIM:619735
HP:0003623	Neonatal onset	85465	SELENOI	OMIM:618768
HP:0003623	Neonatal onset	1716	DGUOK	OMIM:251880
HP:0003623	Neonatal onset	857	CAV1	OMIM:606721
HP:0003623	Neonatal onset	283987	HID1	OMIM:619983
HP:0003623	Neonatal onset	1303	COL12A1	OMIM:616470
HP:0003623	Neonatal onset	57231	SNX14	OMIM:616354
HP:0003623	Neonatal onset	23327	NEDD4L	OMIM:617201
HP:0003623	Neonatal onset	790955	UQCC3	OMIM:616111
HP:0003623	Neonatal onset	5373	PMM2	OMIM:212065
HP:0003623	Neonatal onset	253738	EBF3	OMIM:617330
HP:0003623	Neonatal onset	11154	AP4S1	OMIM:614067
HP:0003623	Neonatal onset	5314	PKHD1	OMIM:263200
HP:0003623	Neonatal onset	54914	FOCAD	OMIM:619991
HP:0003623	Neonatal onset	3769	KCNJ13	OMIM:614186
HP:0003623	Neonatal onset	805	CALM2	OMIM:616249
HP:0003623	Neonatal onset	1182	CLCN3	OMIM:619517
HP:0003623	Neonatal onset	7701	ZNF142	OMIM:618425
HP:0003623	Neonatal onset	8021	NUP214	OMIM:618426
HP:0003623	Neonatal onset	4191	MDH2	OMIM:617339
HP:0003623	Neonatal onset	6523	SLC5A1	OMIM:606824
HP:0003623	Neonatal onset	26137	ZBTB20	OMIM:259050
HP:0003623	Neonatal onset	11234	HPS5	OMIM:614074
HP:0003623	Neonatal onset	56098	PCDHGC4	OMIM:619880
HP:0003623	Neonatal onset	11311	VPS45	OMIM:615285
HP:0003623	Neonatal onset	10991	SLC38A3	OMIM:619881
HP:0003623	Neonatal onset	773	CACNA1A	OMIM:617106
HP:0003623	Neonatal onset	6506	SLC1A2	OMIM:617105
HP:0003623	Neonatal onset	476	ATP1A1	OMIM:618314
HP:0003623	Neonatal onset	9562	MINPP1	OMIM:619527
HP:0003623	Neonatal onset	487	ATP2A1	OMIM:601003
HP:0003623	Neonatal onset	92749	DRC1	OMIM:615294
HP:0003623	Neonatal onset	6843	VAMP1	OMIM:618323
HP:0003623	Neonatal onset	54941	RNF125	OMIM:616260
HP:0003623	Neonatal onset	3798	KIF5A	OMIM:617235
HP:0003623	Neonatal onset	51227	PIGP	OMIM:617599
HP:0003623	Neonatal onset	3172	HNF4A	OMIM:616026
HP:0003623	Neonatal onset	54532	USP53	OMIM:619658
HP:0003623	Neonatal onset	1585	CYP11B2	OMIM:610600
HP:0003623	Neonatal onset	1585	CYP11B2	OMIM:203400
HP:0003623	Neonatal onset	6595	SMARCA2	OMIM:601358
HP:0003623	Neonatal onset	27247	NFU1	OMIM:605711
HP:0003623	Neonatal onset	345643	MCIDAS	OMIM:618695
HP:0003623	Neonatal onset	205327	C2orf69	OMIM:619423
HP:0003623	Neonatal onset	4633	MYL2	OMIM:619424
HP:0003623	Neonatal onset	93233	ODAD1	OMIM:615067
HP:0003623	Neonatal onset	55151	TMEM38B	OMIM:615066
HP:0003623	Neonatal onset	113220	KIF12	OMIM:619662
HP:0003623	Neonatal onset	27429	HTRA2	OMIM:617248
HP:0003623	Neonatal onset	5813	PURA	OMIM:616158
HP:0003623	Neonatal onset	5426	POLE	OMIM:618336
HP:0003623	Neonatal onset	3242	HPD	OMIM:276710
HP:0003623	Neonatal onset	8905	AP1S2	OMIM:304340
HP:0003623	Neonatal onset	7273	TTN	OMIM:611705
HP:0003623	Neonatal onset	7080	NKX2-1	OMIM:610978
HP:0003623	Neonatal onset	139212	DNAAF6	OMIM:300991
HP:0003623	Neonatal onset	695	BTK	OMIM:300755
HP:0003623	Neonatal onset	4728	NDUFS8	OMIM:618222
HP:0003623	Neonatal onset	79876	UBA5	OMIM:617132
HP:0003623	Neonatal onset	1499	CTNNB1	OMIM:615075
HP:0003623	Neonatal onset	3852	KRT5	OMIM:619555
HP:0003623	Neonatal onset	3852	KRT5	OMIM:609352
HP:0003623	Neonatal onset	3852	KRT5	OMIM:131760
HP:0003623	Neonatal onset	9759	HDAC4	OMIM:619797
HP:0003623	Neonatal onset	1441	CSF3R	OMIM:617014
HP:0003623	Neonatal onset	10765	KDM5B	OMIM:618109
HP:0003623	Neonatal onset	359	AQP2	OMIM:125800
HP:0003623	Neonatal onset	4719	NDUFS1	OMIM:618226
HP:0003623	Neonatal onset	55746	NUP133	OMIM:618349
HP:0003623	Neonatal onset	4720	NDUFS2	OMIM:618228
HP:0003623	Neonatal onset	9526	MPDU1	OMIM:609180
HP:0003623	Neonatal onset	4729	NDUFV2	OMIM:618229
HP:0003623	Neonatal onset	8737	RIPK1	OMIM:618108
HP:0003623	Neonatal onset	10102	TSFM	OMIM:610505
HP:0003623	Neonatal onset	170302	ARX	OMIM:308350
HP:0003623	Neonatal onset	3785	KCNQ2	OMIM:121200
HP:0003623	Neonatal onset	3785	KCNQ2	OMIM:613720
HP:0003623	Neonatal onset	128869	PIGU	OMIM:618590
HP:0003623	Neonatal onset	10165	SLC25A13	OMIM:605814
HP:0003623	Neonatal onset	59341	TRPV4	OMIM:156530
HP:0003623	Neonatal onset	58484	NLRC4	OMIM:616050
HP:0003623	Neonatal onset	5515	PPP2CA	OMIM:618354
HP:0003623	Neonatal onset	55610	VPS50	OMIM:619685
HP:0003623	Neonatal onset	6514	SLC2A2	OMIM:227810
HP:0003623	Neonatal onset	23114	NFASC	OMIM:618356
HP:0003623	Neonatal onset	4695	NDUFA2	OMIM:618235
HP:0003623	Neonatal onset	3561	IL2RG	OMIM:300400
HP:0003623	Neonatal onset	126328	NDUFA11	OMIM:618236
HP:0003623	Neonatal onset	6809	STX3	OMIM:619446
HP:0003623	Neonatal onset	8867	SYNJ1	OMIM:617389
HP:0003623	Neonatal onset	10659	CELF2	OMIM:619561
HP:0003623	Neonatal onset	3745	KCNB1	OMIM:616056
HP:0003623	Neonatal onset	4726	NDUFS6	OMIM:618232
HP:0003623	Neonatal onset	29968	PSAT1	OMIM:610992
HP:0003623	Neonatal onset	5660	PSAP	OMIM:611721
HP:0003623	Neonatal onset	6833	ABCC8	OMIM:240800
HP:0003623	Neonatal onset	1130	LYST	OMIM:214500
HP:0003623	Neonatal onset	7846	TUBA1A	OMIM:611603
HP:0003623	Neonatal onset	8869	ST3GAL5	OMIM:609056
HP:0003623	Neonatal onset	5934	RBL2	OMIM:619690
HP:0003623	Neonatal onset	57190	SELENON	OMIM:602771
HP:0003623	Neonatal onset	4784	NFIX	OMIM:602535
HP:0003623	Neonatal onset	4784	NFIX	OMIM:614753
HP:0003623	Neonatal onset	3938	LCT	OMIM:223000
HP:0003623	Neonatal onset	1145	CHRNE	OMIM:605809
HP:0003623	Neonatal onset	23221	RHOBTB2	OMIM:618004
HP:0003623	Neonatal onset	51473	DCDC2	OMIM:617394
HP:0003623	Neonatal onset	4704	NDUFA9	OMIM:618247
HP:0003623	Neonatal onset	537	ATP6AP1	OMIM:300972
HP:0003623	Neonatal onset	25915	NDUFAF3	OMIM:618240
HP:0003623	Neonatal onset	7922	SLC39A7	OMIM:619693
HP:0003623	Neonatal onset	55572	FOXRED1	OMIM:618241
HP:0003623	Neonatal onset	513	ATP5F1D	OMIM:618120
HP:0003623	Neonatal onset	4052	LTBP1	OMIM:619451
HP:0003623	Neonatal onset	7019	TFAM	OMIM:617156
HP:0003623	Neonatal onset	4705	NDUFA10	OMIM:618243
HP:0003623	Neonatal onset	11274	USP18	OMIM:617397
HP:0003623	Neonatal onset	8120	AP3B2	OMIM:617276
HP:0003623	Neonatal onset	6718	AKR1D1	OMIM:235555
HP:0003623	Neonatal onset	3054	HCFC1	OMIM:309541
HP:0003623	Neonatal onset	439	GET3	OMIM:620203
HP:0003623	Neonatal onset	3913	LAMB2	OMIM:609049
HP:0003623	Neonatal onset	55750	AGK	OMIM:212350
HP:0003623	Neonatal onset	6821	SUOX	OMIM:272300
HP:0003623	Neonatal onset	2898	GRIK2	OMIM:619580
HP:0003623	Neonatal onset	23258	DENND5A	OMIM:617281
HP:0003623	Neonatal onset	7161	TP73	OMIM:619466
HP:0003623	Neonatal onset	2906	GRIN2D	OMIM:617162
HP:0003623	Neonatal onset	7317	UBA1	OMIM:301830
HP:0003623	Neonatal onset	146206	CARMIL2	OMIM:618131
HP:0003623	Neonatal onset	84705	GTPBP3	OMIM:616198
HP:0003623	Neonatal onset	2257	FGF12	OMIM:617166
HP:0003623	Neonatal onset	7253	TSHR	OMIM:609152
HP:0003623	Neonatal onset	9971	NR1H4	OMIM:617049
HP:0003623	Neonatal onset	25939	SAMHD1	OMIM:612952
HP:0003623	Neonatal onset	412	STS	OMIM:308100
HP:0003623	Neonatal onset	84701	COX4I2	OMIM:612714
HP:0003623	Neonatal onset	3674	ITGA2B	OMIM:273800
HP:0003623	Neonatal onset	11212	PLPBP	OMIM:617290
HP:0003623	Neonatal onset	51241	COX16	OMIM:619355
HP:0003623	Neonatal onset	37	ACADVL	OMIM:201475
HP:0003623	Neonatal onset	54809	SAMD9	OMIM:617053
HP:0003623	Neonatal onset	134218	DNAJC21	OMIM:617052
HP:0003623	Neonatal onset	51095	TRNT1	OMIM:616084
HP:0003623	Neonatal onset	35	ACADS	OMIM:201470
HP:0003623	Neonatal onset	435	ASL	OMIM:207900
HP:0003623	Neonatal onset	2673	GFPT1	OMIM:610542
HP:0003623	Neonatal onset	5019	OXCT1	OMIM:245050
HP:0003623	Neonatal onset	6335	SCN9A	OMIM:167400
HP:0003623	Neonatal onset	9420	CYP7B1	OMIM:613812
HP:0003623	Neonatal onset	7168	TPM1	OMIM:611878
HP:0003623	Neonatal onset	286	ANK1	OMIM:182900
HP:0003623	Neonatal onset	1041	CDSN	OMIM:270300
HP:0003623	Neonatal onset	11198	SUPT16H	OMIM:619480
HP:0003623	Neonatal onset	123264	SLC51B	OMIM:619481
HP:0003623	Neonatal onset	283446	MYO1H	OMIM:619482
HP:0003623	Neonatal onset	113189	CHST14	OMIM:601776
HP:0003623	Neonatal onset	2571	GAD1	OMIM:619124
HP:0003623	Neonatal onset	9325	TRIP4	OMIM:617066
HP:0003623	Neonatal onset	285590	SH3PXD2B	OMIM:249420
HP:0003623	Neonatal onset	60558	GUF1	OMIM:617065
HP:0003623	Neonatal onset	374354	NHLRC2	OMIM:618278
HP:0003623	Neonatal onset	10660	LBX1	OMIM:619483
HP:0003623	Neonatal onset	6472	SHMT2	OMIM:619121
HP:0003623	Neonatal onset	2566	GABRG2	OMIM:618396
HP:0003623	Neonatal onset	3557	IL1RN	OMIM:612852
HP:0003623	Neonatal onset	539	ATP5PO	OMIM:620359
HP:0003623	Neonatal onset	91662	NLRP12	OMIM:611762
HP:0003623	Neonatal onset	498	ATP5F1A	OMIM:620358
HP:0003623	Neonatal onset	55806	HR	OMIM:203655
HP:0003623	Neonatal onset	8911	CACNA1I	OMIM:620114
HP:0003623	Neonatal onset	4645	MYO5B	OMIM:251850
HP:0003623	Neonatal onset	6663	SOX10	OMIM:609136
HP:0003623	Neonatal onset	3030	HADHA	OMIM:609015
HP:0003623	Neonatal onset	10551	AGR2	OMIM:620233
HP:0003623	Neonatal onset	673	BRAF	OMIM:613707
HP:0003623	Neonatal onset	6123	RPL3L	OMIM:619371
HP:0003623	Neonatal onset	6554	SLC10A1	OMIM:619256
HP:0003623	Neonatal onset	5805	PTS	OMIM:261640
HP:0003623	Neonatal onset	2203	FBP1	OMIM:229700
HP:0003623	Neonatal onset	51371	POMP	OMIM:618048
HP:0003623	Neonatal onset	84231	TRAF7	OMIM:618164
HP:0003623	Neonatal onset	7157	TP53	OMIM:618165
HP:0003623	Neonatal onset	100	ADA	OMIM:102700
HP:0003623	Neonatal onset	383	ARG1	OMIM:207800
HP:0003623	Neonatal onset	6329	SCN4A	OMIM:608390
HP:0003623	Neonatal onset	6340	SCNN1G	OMIM:620126
HP:0003623	Neonatal onset	3295	HSD17B4	OMIM:261515
HP:0003623	Neonatal onset	875	CBS	OMIM:236200
HP:0003623	Neonatal onset	779	CACNA1S	OMIM:620246
HP:0003623	Neonatal onset	6338	SCNN1B	OMIM:620125
HP:0003623	Neonatal onset	81615	TMEM163	OMIM:620243
HP:0003623	Neonatal onset	84081	NSRP1	OMIM:620001
HP:0003623	Neonatal onset	124093	CCDC78	OMIM:614807
HP:0003623	Neonatal onset	129285	PPP1R21	OMIM:619383
HP:0003623	Neonatal onset	50617	ATP6V0A4	OMIM:602722
HP:0003623	Neonatal onset	3690	ITGB3	OMIM:619267
HP:0003623	Neonatal onset	84842	HPDL	OMIM:619026
HP:0003623	Neonatal onset	8665	EIF3F	OMIM:618295
HP:0003623	Neonatal onset	1373	CPS1	OMIM:237300
HP:0003623	Neonatal onset	284111	SLC13A5	OMIM:615905
HP:0003623	Neonatal onset	83483	PLVAP	OMIM:618183
HP:0003623	Neonatal onset	85016	CFAP300	OMIM:618063
HP:0003623	Neonatal onset	10128	LRPPRC	OMIM:220111
HP:0003623	Neonatal onset	158	ADSL	OMIM:103050
HP:0003623	Neonatal onset	83538	ODAD4	OMIM:617092
HP:0003623	Neonatal onset	79717	PPCS	OMIM:618189
HP:0003623	Neonatal onset	3861	KRT14	OMIM:131760
HP:0003623	Neonatal onset	9722	NOS1AP	OMIM:619155
HP:0003623	Neonatal onset	23241	PACS2	OMIM:618067
HP:0003623	Neonatal onset	3767	KCNJ11	OMIM:610582
HP:0003623	Neonatal onset	3767	KCNJ11	OMIM:601820
HP:0003623	Neonatal onset	5009	OTC	OMIM:311250
HP:0003623	Neonatal onset	775	CACNA1C	OMIM:620029
HP:0003623	Neonatal onset	55325	UFSP2	OMIM:620028
HP:0003623	Neonatal onset	10667	FARS2	OMIM:614946
HP:0003623	Neonatal onset	56916	SMARCAD1	OMIM:129200
HP:0003623	Neonatal onset	57176	VARS2	OMIM:615917
HP:0003623	Neonatal onset	501	ALDH7A1	OMIM:266100
HP:0003623	Neonatal onset	3909	LAMA3	OMIM:245660
HP:0003623	Neonatal onset	6576	SLC25A1	OMIM:618197
HP:0003623	Neonatal onset	1352	COX10	OMIM:619046
HP:0003623	Neonatal onset	55788	LMBRD1	OMIM:277380
HP:0003623	Neonatal onset	3141	HLCS	OMIM:253270
HP:0003623	Neonatal onset	973	CD79A	OMIM:613501
HP:0003623	Neonatal onset	5015	OTX2	OMIM:613986
HP:0003623	Neonatal onset	23431	AP4E1	OMIM:613744
HP:0003623	Neonatal onset	9915	ARNT2	OMIM:615926
HP:0003623	Neonatal onset	57582	KCNT1	OMIM:614959
HP:0003623	Neonatal onset	1410	CRYAB	OMIM:613869
HP:0003623	Neonatal onset	79048	SECISBP2	OMIM:609698
HP:0003623	Neonatal onset	6439	SFTPB	OMIM:265120
HP:0003623	Neonatal onset	6005	RHAG	OMIM:185000
HP:0003623	Neonatal onset	64324	NSD1	OMIM:117550
HP:0003623	Neonatal onset	5699	PSMB10	OMIM:619175
HP:0003623	Neonatal onset	8913	CACNA1G	OMIM:618087
HP:0003623	Neonatal onset	1272	CNTN1	OMIM:612540
HP:0003623	Neonatal onset	6261	RYR1	OMIM:255320
HP:0003623	Neonatal onset	6261	RYR1	OMIM:117000
HP:0003623	Neonatal onset	92579	G6PC3	OMIM:612541
HP:0003623	Neonatal onset	6499	SKIC2	OMIM:614602
HP:0003623	Neonatal onset	340061	STING1	OMIM:615934
HP:0003623	Neonatal onset	8792	TNFRSF11A	OMIM:612301
HP:0003623	Neonatal onset	5624	PROC	OMIM:612304
HP:0003623	Neonatal onset	8942	KYNU	OMIM:236800
HP:0003623	Neonatal onset	3778	KCNMA1	OMIM:609446
HP:0003623	Neonatal onset	23325	WASHC4	OMIM:615817
HP:0003623	Neonatal onset	256297	PTF1A	OMIM:615935
HP:0003623	Neonatal onset	55107	ANO1	OMIM:620045
HP:0003623	Neonatal onset	54675	CRLS1	OMIM:620167
HP:0003623	Neonatal onset	1854	DUT	OMIM:620044
HP:0003623	Neonatal onset	10555	AGPAT2	OMIM:608594
HP:0003623	Neonatal onset	79087	ALG12	OMIM:607143
HP:0003623	Neonatal onset	8802	SUCLG1	OMIM:245400
HP:0003623	Neonatal onset	9750	RIPOR2	OMIM:607017
HP:0003623	Neonatal onset	132158	GLYCTK	OMIM:220120
HP:0003623	Neonatal onset	6999	TDO2	OMIM:600627
HP:0003623	Neonatal onset	50674	NEUROG3	OMIM:610370
HP:0003623	Neonatal onset	5167	ENPP1	OMIM:208000
HP:0003623	Neonatal onset	84300	UQCC2	OMIM:615824
HP:0003623	Neonatal onset	4338	MOCS2	OMIM:252160
HP:0003623	Neonatal onset	63894	VIPAS39	OMIM:613404
HP:0003623	Neonatal onset	51293	CD320	OMIM:613646
HP:0003623	Neonatal onset	54658	UGT1A1	OMIM:237900
HP:0003623	Neonatal onset	25942	SIN3A	OMIM:613406
HP:0003623	Neonatal onset	9152	SLC6A5	OMIM:614618
HP:0003623	Neonatal onset	5826	ABCD4	OMIM:614857
HP:0003623	Neonatal onset	2743	GLRB	OMIM:614619
HP:0003623	Neonatal onset	65109	UPF3B	OMIM:300676
HP:0003623	Neonatal onset	4607	MYBPC3	OMIM:115197
HP:0003623	Neonatal onset	2677	GGCX	OMIM:277450
HP:0003623	Neonatal onset	5190	PEX6	OMIM:614862
HP:0003623	Neonatal onset	6774	STAT3	OMIM:615952
HP:0003623	Neonatal onset	26053	AUTS2	OMIM:615834
HP:0003623	Neonatal onset	5828	PEX2	OMIM:614866
HP:0003623	Neonatal onset	64446	DNAI2	OMIM:612444
HP:0003623	Neonatal onset	2073	ERCC5	OMIM:278780
HP:0003623	Neonatal onset	79751	SLC25A22	OMIM:609304
HP:0003623	Neonatal onset	23600	AMACR	OMIM:214950
HP:0003623	Neonatal onset	3675	ITGA3	OMIM:614748
HP:0003623	Neonatal onset	83475	DOHH	OMIM:620066
HP:0003623	Neonatal onset	190	NR0B1	OMIM:300200
HP:0003623	Neonatal onset	554	AVPR2	OMIM:304800
HP:0003623	Neonatal onset	4306	NR3C2	OMIM:177735
HP:0003623	Neonatal onset	440138	ALG11	OMIM:613661
HP:0003623	Neonatal onset	54919	DNAAF5	OMIM:614874
HP:0003623	Neonatal onset	5627	PROS1	OMIM:614514
HP:0003623	Neonatal onset	64135	IFIH1	OMIM:615846
HP:0003623	Neonatal onset	114548	NLRP3	OMIM:607115
HP:0003623	Neonatal onset	7837	PXDN	OMIM:269400
HP:0003623	Neonatal onset	7355	SLC35A2	OMIM:300896
HP:0003623	Neonatal onset	81031	SLC2A10	OMIM:208050
HP:0003623	Neonatal onset	1186	CLCN7	OMIM:611490
HP:0003623	Neonatal onset	9928	KIF14	OMIM:617914
HP:0003623	Neonatal onset	1634	DCN	OMIM:610048
HP:0003623	Neonatal onset	445	ASS1	OMIM:215700
HP:0003623	Neonatal onset	2542	SLC37A4	OMIM:232240
HP:0003623	Neonatal onset	28962	OSTM1	OMIM:259720
HP:0003623	Neonatal onset	84978	FRMD5	OMIM:620094
HP:0003623	Neonatal onset	10159	ATP6AP2	OMIM:300423
HP:0003623	Neonatal onset	1294	COL7A1	OMIM:131750
HP:0003623	Neonatal onset	1294	COL7A1	OMIM:131705
HP:0003623	Neonatal onset	8694	DGAT1	OMIM:615863
HP:0003623	Neonatal onset	10243	GPHN	OMIM:615501
HP:0003623	Neonatal onset	57017	COQ9	OMIM:614654
HP:0003623	Neonatal onset	57107	PDSS2	OMIM:614652
HP:0003623	Neonatal onset	3329	HSPD1	OMIM:612233
HP:0003623	Neonatal onset	22858	CILK1	OMIM:617924
HP:0003623	Neonatal onset	9894	TELO2	OMIM:616954
HP:0003623	Neonatal onset	6664	SOX11	OMIM:615866
HP:0003623	Neonatal onset	339453	TMEM240	OMIM:607454
HP:0003623	Neonatal onset	1861	TOR1A	OMIM:128100
HP:0003623	Neonatal onset	54704	PDP1	OMIM:608782
HP:0003623	Neonatal onset	8600	TNFSF11	OMIM:259710
HP:0003623	Neonatal onset	4054	LTBP3	OMIM:617809
HP:0003623	Neonatal onset	201294	UNC13D	OMIM:608898
HP:0003623	Neonatal onset	2982	GUCY1A1	OMIM:615750
HP:0003623	Neonatal onset	7167	TPI1	OMIM:615512
HP:0003623	Neonatal onset	763	CA5A	OMIM:615751
HP:0003623	Neonatal onset	132	ADK	OMIM:614300
HP:0003623	Neonatal onset	29926	GMPPA	OMIM:615510
HP:0003623	Neonatal onset	23394	ADNP	OMIM:615873
HP:0003623	Neonatal onset	9414	TJP2	OMIM:615878
HP:0003623	Neonatal onset	6334	SCN8A	OMIM:614306
HP:0003623	Neonatal onset	6334	SCN8A	OMIM:614558
HP:0003623	Neonatal onset	6328	SCN3A	OMIM:617935
HP:0003623	Neonatal onset	6328	SCN3A	OMIM:617938
HP:0003623	Neonatal onset	4072	EPCAM	OMIM:613217
HP:0003623	Neonatal onset	2258	FGF13	OMIM:301058
HP:0003623	Neonatal onset	54768	HYDIN	OMIM:608647
HP:0003623	Neonatal onset	5443	POMC	OMIM:609734
HP:0003623	Neonatal onset	5859	QARS1	OMIM:615760
HP:0003623	Neonatal onset	10525	HYOU1	OMIM:233600
HP:0003623	Neonatal onset	54931	TRMT10C	OMIM:616974
HP:0003623	Neonatal onset	169792	GLIS3	OMIM:610199
HP:0003623	Neonatal onset	2162	F13A1	OMIM:613225
HP:0003623	Neonatal onset	6513	SLC2A1	OMIM:608885
HP:0003623	Neonatal onset	1767	DNAH5	OMIM:608644
HP:0003623	Neonatal onset	3033	HADH	OMIM:609975
HP:0003623	Neonatal onset	79572	ATP13A3	OMIM:265400
HP:0003623	Neonatal onset	10616	RBCK1	OMIM:615895
HP:0003623	Neonatal onset	26525	IL36RN	OMIM:614204
HP:0003623	Neonatal onset	708	C1QBP	OMIM:617713
HP:0003623	Neonatal onset	6606	SMN1	OMIM:253300
HP:0003623	Neonatal onset	4594	MMUT	OMIM:251000
HP:0003623	Neonatal onset	8471	IRS4	OMIM:301035
HP:0003623	Neonatal onset	3758	KCNJ1	OMIM:241200
HP:0003623	Neonatal onset	3762	KCNJ5	OMIM:613485
HP:0003623	Neonatal onset	7421	VDR	OMIM:277440
HP:0003623	Neonatal onset	23152	CIC	OMIM:617600
HP:0003623	Neonatal onset	1729	DIAPH1	OMIM:616632
HP:0003623	Neonatal onset	5406	PNLIP	OMIM:614338
HP:0003623	Neonatal onset	54551	MAGEL2	OMIM:615547
HP:0003623	Neonatal onset	7138	TNNT1	OMIM:605355
HP:0003623	Neonatal onset	326625	MMAB	OMIM:251110
HP:0003623	Neonatal onset	9997	SCO2	OMIM:604377
HP:0003623	Neonatal onset	80270	HSD3B7	OMIM:607765
HP:0003623	Neonatal onset	11019	LIAS	OMIM:614462
HP:0003623	Neonatal onset	6812	STXBP1	OMIM:612164
HP:0003623	Neonatal onset	11222	MRPL3	OMIM:614582
HP:0003623	Neonatal onset	8929	PHOX2B	OMIM:209880
HP:0003623	Neonatal onset	1103	CHAT	OMIM:254210
HP:0003623	Neonatal onset	23568	ARL2BP	OMIM:615434
HP:0003623	Neonatal onset	3747	KCNC2	OMIM:619913
HP:0003623	Neonatal onset	94137	RP1L1	OMIM:618826
HP:0003623	Neonatal onset	6531	SLC6A3	OMIM:613135
HP:0003623	Neonatal onset	56270	WDR45B	OMIM:617977
HP:0003623	Neonatal onset	1917	EEF1A2	OMIM:616409
HP:0003623	Neonatal onset	7507	XPA	OMIM:278700
HP:0003623	Neonatal onset	200894	ARL13B	OMIM:612291
HP:0003623	Neonatal onset	51816	ADA2	OMIM:615688
HP:0003623	Neonatal onset	57570	TRMT5	OMIM:616539
HP:0003623	Neonatal onset	100506658	OCLN	OMIM:251290
HP:0003623	Neonatal onset	113246	C12orf57	OMIM:218340
HP:0003623	Neonatal onset	6337	SCNN1A	OMIM:264350
HP:0003623	Neonatal onset	9076	CLDN1	OMIM:607626
HP:0003623	Neonatal onset	95	ACY1	OMIM:609924
HP:0003623	Neonatal onset	10577	NPC2	OMIM:607625
HP:0003623	Neonatal onset	4047	LSS	OMIM:618840
HP:0003623	Neonatal onset	5879	RAC1	OMIM:617751
HP:0003623	Neonatal onset	440	ASNS	OMIM:615574
HP:0003623	Neonatal onset	10274	STAG1	OMIM:617635
HP:0003623	Neonatal onset	2902	GRIN1	OMIM:619814
HP:0003623	Neonatal onset	55812	SPATA7	OMIM:604232
HP:0003623	Neonatal onset	57731	SPTBN4	OMIM:617519
HP:0003623	Neonatal onset	6223	RPS19	OMIM:105650
HP:0003623	Neonatal onset	2639	GCDH	OMIM:231670
HP:0003623	Neonatal onset	18	ABAT	OMIM:613163
HP:0003623	Neonatal onset	153241	CEP120	OMIM:617761
HP:0003623	Neonatal onset	50484	RRM2B	OMIM:612075
HP:0003623	Neonatal onset	1794	DOCK2	OMIM:616433
HP:0003623	Neonatal onset	221927	BRAT1	OMIM:614498
HP:0003623	Neonatal onset	2706	GJB2	OMIM:148210
HP:0003623	Neonatal onset	83544	DNAL1	OMIM:614017
HP:0003623	Neonatal onset	2746	GLUD1	OMIM:606762
HP:0003623	Neonatal onset	9990	SLC12A6	OMIM:218000
HP:0002486	Myotonia	487	ATP2A1	OMIM:601003
HP:0002486	Myotonia	5213	PFKM	ORPHA:371
HP:0002486	Myotonia	3094	HINT1	ORPHA:324442
HP:0002486	Myotonia	7345	UCHL1	OMIM:615491
HP:0002486	Myotonia	779	CACNA1S	OMIM:170400
HP:0002486	Myotonia	779	CACNA1S	ORPHA:79102
HP:0002486	Myotonia	779	CACNA1S	ORPHA:681
HP:0002486	Myotonia	203547	VMA21	OMIM:310440
HP:0002486	Myotonia	7555	CNBP	ORPHA:606
HP:0002486	Myotonia	7555	CNBP	OMIM:602668
HP:0002486	Myotonia	100134444	KCNJ18	ORPHA:79102
HP:0002486	Myotonia	2556	GABRA3	ORPHA:79102
HP:0002486	Myotonia	2273	FHL1	ORPHA:98863
HP:0002486	Myotonia	2010	EMD	ORPHA:98863
HP:0002486	Myotonia	773	CACNA1A	OMIM:108500
HP:0002486	Myotonia	3339	HSPG2	ORPHA:800
HP:0002486	Myotonia	10008	KCNE3	ORPHA:681
HP:0002486	Myotonia	1760	DMPK	ORPHA:589821
HP:0002486	Myotonia	1760	DMPK	OMIM:160900
HP:0002486	Myotonia	3977	LIFR	OMIM:601559
HP:0002486	Myotonia	4000	LMNA	ORPHA:98855
HP:0002486	Myotonia	4000	LMNA	ORPHA:98853
HP:0002486	Myotonia	3736	KCNA1	ORPHA:37612
HP:0002486	Myotonia	79188	TMEM43	ORPHA:98853
HP:0002486	Myotonia	23345	SYNE1	ORPHA:98853
HP:0002486	Myotonia	23224	SYNE2	ORPHA:98853
HP:0002486	Myotonia	80185	TTI2	ORPHA:391307
HP:0002486	Myotonia	284119	CAVIN1	OMIM:613327
HP:0002486	Myotonia	6445	SGCG	ORPHA:353
HP:0002486	Myotonia	1180	CLCN1	OMIM:160800
HP:0002486	Myotonia	1180	CLCN1	OMIM:255700
HP:0002486	Myotonia	203859	ANO5	ORPHA:206549
HP:0002486	Myotonia	859	CAV3	OMIM:606072
HP:0002486	Myotonia	859	CAV3	ORPHA:488650
HP:0002486	Myotonia	6840	SVIL	OMIM:619040
HP:0002486	Myotonia	10049	DNAJB6	ORPHA:34516
HP:0002486	Myotonia	6329	SCN4A	ORPHA:684
HP:0002486	Myotonia	6329	SCN4A	OMIM:168300
HP:0002486	Myotonia	58	ACTA1	ORPHA:97240
HP:0002486	Myotonia	5813	PURA	ORPHA:438216
HP:0008967	Exercise-induced muscle stiffness	487	ATP2A1	OMIM:601003
HP:0008967	Exercise-induced muscle stiffness	859	CAV3	OMIM:606072
HP:0008967	Exercise-induced muscle stiffness	5213	PFKM	OMIM:232800
HP:0008967	Exercise-induced muscle stiffness	90523	MLIP	OMIM:620138
HP:0008967	Exercise-induced muscle stiffness	6566	SLC16A1	OMIM:245340
HP:0008967	Exercise-induced muscle stiffness	5837	PYGM	ORPHA:368
HP:0008967	Exercise-induced muscle stiffness	5255	PHKA1	OMIM:300559
HP:0008967	Exercise-induced muscle stiffness	6329	SCN4A	ORPHA:99734
HP:0003634	Amyoplasia	1146	CHRNG	OMIM:253290
HP:0003634	Amyoplasia	1144	CHRND	OMIM:253290
HP:0003634	Amyoplasia	1134	CHRNA1	OMIM:253290
HP:0003634	Amyoplasia	59341	TRPV4	OMIM:181405
HP:0003635	Loss of subcutaneous adipose tissue in limbs	4000	LMNA	ORPHA:280365
HP:0003635	Loss of subcutaneous adipose tissue in limbs	4000	LMNA	OMIM:151660
HP:0003635	Loss of subcutaneous adipose tissue in limbs	4000	LMNA	OMIM:248370
HP:0003635	Loss of subcutaneous adipose tissue in limbs	4000	LMNA	ORPHA:2348
HP:0003635	Loss of subcutaneous adipose tissue in limbs	5346	PLIN1	ORPHA:280356
HP:0003635	Loss of subcutaneous adipose tissue in limbs	857	CAV1	OMIM:606721
HP:0003635	Loss of subcutaneous adipose tissue in limbs	5468	PPARG	OMIM:604367
HP:0003635	Loss of subcutaneous adipose tissue in limbs	5468	PPARG	ORPHA:79083
HP:0003635	Loss of subcutaneous adipose tissue in limbs	10269	ZMPSTE24	OMIM:608612
HP:0003635	Loss of subcutaneous adipose tissue in limbs	5424	POLD1	OMIM:615381
HP:0003635	Loss of subcutaneous adipose tissue in limbs	63924	CIDEC	ORPHA:435651
HP:0003635	Loss of subcutaneous adipose tissue in limbs	3991	LIPE	ORPHA:435660
HP:0003635	Loss of subcutaneous adipose tissue in limbs	84823	LMNB2	OMIM:608709
HP:0003155	Elevated circulating alkaline phosphatase concentration	171023	ASXL1	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	54790	TET2	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	867	CBL	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	861	RUNX1	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	6427	SRSF2	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	9488	PIGB	OMIM:618580
HP:0003155	Elevated circulating alkaline phosphatase concentration	3376	IARS1	OMIM:617093
HP:0003155	Elevated circulating alkaline phosphatase concentration	79705	LRRK1	OMIM:615198
HP:0003155	Elevated circulating alkaline phosphatase concentration	55503	TRPV6	OMIM:618188
HP:0003155	Elevated circulating alkaline phosphatase concentration	10312	TCIRG1	OMIM:259700
HP:0003155	Elevated circulating alkaline phosphatase concentration	10312	TCIRG1	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	5279	PIGC	OMIM:617816
HP:0003155	Elevated circulating alkaline phosphatase concentration	5314	PKHD1	ORPHA:53035
HP:0003155	Elevated circulating alkaline phosphatase concentration	9420	CYP7B1	ORPHA:79302
HP:0003155	Elevated circulating alkaline phosphatase concentration	9420	CYP7B1	OMIM:613812
HP:0003155	Elevated circulating alkaline phosphatase concentration	7157	TP53	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	5925	RB1	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	11200	CHEK2	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	6718	AKR1D1	ORPHA:79303
HP:0003155	Elevated circulating alkaline phosphatase concentration	6718	AKR1D1	OMIM:235555
HP:0003155	Elevated circulating alkaline phosphatase concentration	5745	PTH1R	OMIM:600002
HP:0003155	Elevated circulating alkaline phosphatase concentration	5745	PTH1R	OMIM:156400
HP:0003155	Elevated circulating alkaline phosphatase concentration	128869	PIGU	OMIM:618590
HP:0003155	Elevated circulating alkaline phosphatase concentration	10165	SLC25A13	OMIM:605814
HP:0003155	Elevated circulating alkaline phosphatase concentration	10165	SLC25A13	ORPHA:247598
HP:0003155	Elevated circulating alkaline phosphatase concentration	6514	SLC2A2	OMIM:227810
HP:0003155	Elevated circulating alkaline phosphatase concentration	6514	SLC2A2	ORPHA:2088
HP:0003155	Elevated circulating alkaline phosphatase concentration	8792	TNFRSF11A	OMIM:174810
HP:0003155	Elevated circulating alkaline phosphatase concentration	8792	TNFRSF11A	OMIM:602080
HP:0003155	Elevated circulating alkaline phosphatase concentration	5244	ABCB4	OMIM:600803
HP:0003155	Elevated circulating alkaline phosphatase concentration	5244	ABCB4	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	10026	PIGK	OMIM:618879
HP:0003155	Elevated circulating alkaline phosphatase concentration	55650	PIGV	OMIM:239300
HP:0003155	Elevated circulating alkaline phosphatase concentration	55650	PIGV	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	56975	FAM20C	OMIM:259775
HP:0003155	Elevated circulating alkaline phosphatase concentration	5251	PHEX	OMIM:307800
HP:0003155	Elevated circulating alkaline phosphatase concentration	5251	PHEX	ORPHA:89936
HP:0003155	Elevated circulating alkaline phosphatase concentration	90	ACVR1	OMIM:135100
HP:0003155	Elevated circulating alkaline phosphatase concentration	25839	COG4	ORPHA:263501
HP:0003155	Elevated circulating alkaline phosphatase concentration	25839	COG4	OMIM:613489
HP:0003155	Elevated circulating alkaline phosphatase concentration	84992	PIGY	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	84992	PIGY	OMIM:616809
HP:0003155	Elevated circulating alkaline phosphatase concentration	84720	PIGO	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	84720	PIGO	OMIM:614749
HP:0003155	Elevated circulating alkaline phosphatase concentration	93210	PGAP3	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	93210	PGAP3	OMIM:615716
HP:0003155	Elevated circulating alkaline phosphatase concentration	284098	PIGW	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	284098	PIGW	OMIM:616025
HP:0003155	Elevated circulating alkaline phosphatase concentration	27315	PGAP2	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	27315	PGAP2	OMIM:614207
HP:0003155	Elevated circulating alkaline phosphatase concentration	9487	PIGL	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	9487	PIGL	OMIM:280000
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	OMIM:601847
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	OMIM:605479
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	3930	LBR	OMIM:613471
HP:0003155	Elevated circulating alkaline phosphatase concentration	7019	TFAM	OMIM:617156
HP:0003155	Elevated circulating alkaline phosphatase concentration	4982	TNFRSF11B	OMIM:239000
HP:0003155	Elevated circulating alkaline phosphatase concentration	3172	HNF4A	ORPHA:263455
HP:0003155	Elevated circulating alkaline phosphatase concentration	3172	HNF4A	OMIM:616026
HP:0003155	Elevated circulating alkaline phosphatase concentration	5277	PIGA	OMIM:300868
HP:0003155	Elevated circulating alkaline phosphatase concentration	57511	COG6	OMIM:614576
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	OMIM:615424
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	OMIM:615426
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	ORPHA:52430
HP:0003155	Elevated circulating alkaline phosphatase concentration	7421	VDR	OMIM:277440
HP:0003155	Elevated circulating alkaline phosphatase concentration	3181	HNRNPA2B1	OMIM:615422
HP:0003155	Elevated circulating alkaline phosphatase concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0003155	Elevated circulating alkaline phosphatase concentration	54872	PIGG	OMIM:616917
HP:0003155	Elevated circulating alkaline phosphatase concentration	1576	CYP3A4	OMIM:619073
HP:0003155	Elevated circulating alkaline phosphatase concentration	1186	CLCN7	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	9842	PLEKHM1	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	8074	FGF23	ORPHA:89937
HP:0003155	Elevated circulating alkaline phosphatase concentration	8074	FGF23	OMIM:193100
HP:0003155	Elevated circulating alkaline phosphatase concentration	5311	PKD2	OMIM:613095
HP:0003155	Elevated circulating alkaline phosphatase concentration	57003	CCDC47	OMIM:618268
HP:0003155	Elevated circulating alkaline phosphatase concentration	94005	PIGS	OMIM:618143
HP:0003155	Elevated circulating alkaline phosphatase concentration	5828	PEX2	OMIM:614866
HP:0003155	Elevated circulating alkaline phosphatase concentration	9091	PIGQ	OMIM:618548
HP:0003155	Elevated circulating alkaline phosphatase concentration	5589	PRKCSH	OMIM:174050
HP:0003155	Elevated circulating alkaline phosphatase concentration	3594	IL12RB1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	23534	TNPO3	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	3592	IL12A	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	6689	SPIB	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	5450	POU2AF1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	9966	TNFSF15	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	79258	MMEL1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	3663	IRF5	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	8733	GPAA1	ORPHA:529665
HP:0003155	Elevated circulating alkaline phosphatase concentration	2628	GATM	OMIM:134600
HP:0003155	Elevated circulating alkaline phosphatase concentration	200931	SLC51A	OMIM:619484
HP:0003155	Elevated circulating alkaline phosphatase concentration	5205	ATP8B1	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	9971	NR1H4	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	8878	SQSTM1	OMIM:167250
HP:0003155	Elevated circulating alkaline phosphatase concentration	51473	DCDC2	ORPHA:84081
HP:0003155	Elevated circulating alkaline phosphatase concentration	91147	TMEM67	ORPHA:84081
HP:0003155	Elevated circulating alkaline phosphatase concentration	2542	SLC37A4	OMIM:619525
HP:0003155	Elevated circulating alkaline phosphatase concentration	617	BCS1L	OMIM:124000
HP:0003155	Elevated circulating alkaline phosphatase concentration	50964	SOST	OMIM:122860
HP:0003155	Elevated circulating alkaline phosphatase concentration	23387	SIK3	OMIM:618162
HP:0003155	Elevated circulating alkaline phosphatase concentration	79989	IFT56	OMIM:619534
HP:0003155	Elevated circulating alkaline phosphatase concentration	5557	PRIM1	OMIM:620005
HP:0003155	Elevated circulating alkaline phosphatase concentration	54532	USP53	OMIM:619658
HP:0003155	Elevated circulating alkaline phosphatase concentration	63916	ELMO2	OMIM:606893
HP:0003155	Elevated circulating alkaline phosphatase concentration	147007	TMEM199	OMIM:616829
HP:0003155	Elevated circulating alkaline phosphatase concentration	6522	SLC4A2	OMIM:620366
HP:0003155	Elevated circulating alkaline phosphatase concentration	166929	SGMS2	OMIM:126550
HP:0003155	Elevated circulating alkaline phosphatase concentration	60681	FKBP10	OMIM:610968
HP:0003155	Elevated circulating alkaline phosphatase concentration	11277	TREX1	ORPHA:247691
HP:0003155	Elevated circulating alkaline phosphatase concentration	113220	KIF12	OMIM:619662
HP:0003155	Elevated circulating alkaline phosphatase concentration	57592	ZNF687	OMIM:616833
HP:0003155	Elevated circulating alkaline phosphatase concentration	6309	SC5D	OMIM:607330
HP:0003155	Elevated circulating alkaline phosphatase concentration	1441	CSF3R	OMIM:162830
HP:0003155	Elevated circulating alkaline phosphatase concentration	2859	GPR35	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	10507	SEMA4D	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	4485	MST1	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	6925	TCF4	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	4883	NPR3	OMIM:619543
HP:0003155	Elevated circulating alkaline phosphatase concentration	142680	SLC34A3	ORPHA:157215
HP:0003155	Elevated circulating alkaline phosphatase concentration	6569	SLC34A1	ORPHA:157215
HP:0003155	Elevated circulating alkaline phosphatase concentration	1758	DMP1	ORPHA:289176
HP:0003155	Elevated circulating alkaline phosphatase concentration	5167	ENPP1	ORPHA:289176
HP:0003155	Elevated circulating alkaline phosphatase concentration	5167	ENPP1	ORPHA:51608
HP:0003155	Elevated circulating alkaline phosphatase concentration	368	ABCC6	ORPHA:51608
HP:0003155	Elevated circulating alkaline phosphatase concentration	1594	CYP27B1	ORPHA:289157
HP:0003155	Elevated circulating alkaline phosphatase concentration	120227	CYP2R1	ORPHA:289157
HP:0003155	Elevated circulating alkaline phosphatase concentration	2099	ESR1	OMIM:615363
HP:0003155	Elevated circulating alkaline phosphatase concentration	4882	NPR2	OMIM:615923
HP:0003155	Elevated circulating alkaline phosphatase concentration	1497	CTNS	ORPHA:411634
HP:0003155	Elevated circulating alkaline phosphatase concentration	7415	VCP	OMIM:167320
HP:0003155	Elevated circulating alkaline phosphatase concentration	84317	CCDC115	OMIM:616828
HP:0002151	Increased serum lactate	9131	AIFM1	ORPHA:238329
HP:0002151	Increased serum lactate	9131	AIFM1	OMIM:300816
HP:0002151	Increased serum lactate	4702	NDUFA8	OMIM:619272
HP:0002151	Increased serum lactate	10128	LRPPRC	OMIM:220111
HP:0002151	Increased serum lactate	10128	LRPPRC	ORPHA:70472
HP:0002151	Increased serum lactate	79717	PPCS	OMIM:618189
HP:0002151	Increased serum lactate	26235	FBXL4	OMIM:615471
HP:0002151	Increased serum lactate	4574	MT-TS1	OMIM:220110
HP:0002151	Increased serum lactate	4574	MT-TS1	ORPHA:550
HP:0002151	Increased serum lactate	4574	MT-TS1	ORPHA:663
HP:0002151	Increased serum lactate	4570	MT-TN	OMIM:220110
HP:0002151	Increased serum lactate	4570	MT-TN	ORPHA:663
HP:0002151	Increased serum lactate	6834	SURF1	OMIM:220110
HP:0002151	Increased serum lactate	6834	SURF1	OMIM:616684
HP:0002151	Increased serum lactate	6834	SURF1	ORPHA:70474
HP:0002151	Increased serum lactate	6834	SURF1	ORPHA:255241
HP:0002151	Increased serum lactate	10059	DNM1L	OMIM:614388
HP:0002151	Increased serum lactate	10059	DNM1L	ORPHA:330050
HP:0002151	Increased serum lactate	400916	CHCHD10	OMIM:616209
HP:0002151	Increased serum lactate	400916	CHCHD10	ORPHA:457050
HP:0002151	Increased serum lactate	25821	MTO1	OMIM:614702
HP:0002151	Increased serum lactate	123263	MTFMT	OMIM:614947
HP:0002151	Increased serum lactate	123263	MTFMT	ORPHA:255241
HP:0002151	Increased serum lactate	10667	FARS2	OMIM:614946
HP:0002151	Increased serum lactate	80222	TARS2	OMIM:615918
HP:0002151	Increased serum lactate	4535	MT-ND1	ORPHA:255210
HP:0002151	Increased serum lactate	4535	MT-ND1	ORPHA:550
HP:0002151	Increased serum lactate	4536	MT-ND2	ORPHA:255210
HP:0002151	Increased serum lactate	4537	MT-ND3	ORPHA:255210
HP:0002151	Increased serum lactate	4538	MT-ND4	ORPHA:255210
HP:0002151	Increased serum lactate	4538	MT-ND4	ORPHA:550
HP:0002151	Increased serum lactate	4567	MT-TL1	ORPHA:255210
HP:0002151	Increased serum lactate	4567	MT-TL1	OMIM:545000
HP:0002151	Increased serum lactate	4567	MT-TL1	ORPHA:550
HP:0002151	Increased serum lactate	4567	MT-TL1	ORPHA:663
HP:0002151	Increased serum lactate	4578	MT-TW	ORPHA:255210
HP:0002151	Increased serum lactate	4578	MT-TW	ORPHA:550
HP:0002151	Increased serum lactate	4577	MT-TV	ORPHA:255210
HP:0002151	Increased serum lactate	4508	MT-ATP6	ORPHA:255210
HP:0002151	Increased serum lactate	4508	MT-ATP6	ORPHA:320360
HP:0002151	Increased serum lactate	4540	MT-ND5	ORPHA:255210
HP:0002151	Increased serum lactate	4540	MT-ND5	ORPHA:550
HP:0002151	Increased serum lactate	4541	MT-ND6	ORPHA:255210
HP:0002151	Increased serum lactate	4541	MT-ND6	ORPHA:550
HP:0002151	Increased serum lactate	4566	MT-TK	ORPHA:255210
HP:0002151	Increased serum lactate	4566	MT-TK	OMIM:545000
HP:0002151	Increased serum lactate	4566	MT-TK	ORPHA:1349
HP:0002151	Increased serum lactate	51218	GLRX5	ORPHA:401866
HP:0002151	Increased serum lactate	51218	GLRX5	OMIM:616859
HP:0002151	Increased serum lactate	6341	SCO1	OMIM:619048
HP:0002151	Increased serum lactate	65993	MRPS34	OMIM:617664
HP:0002151	Increased serum lactate	5917	RARS1	ORPHA:438114
HP:0002151	Increased serum lactate	56997	COQ8A	ORPHA:139485
HP:0002151	Increased serum lactate	56997	COQ8A	OMIM:612016
HP:0002151	Increased serum lactate	1352	COX10	OMIM:619046
HP:0002151	Increased serum lactate	387787	LIPT2	OMIM:617668
HP:0002151	Increased serum lactate	1841	DTYMK	OMIM:619847
HP:0002151	Increased serum lactate	10730	YME1L1	OMIM:617302
HP:0002151	Increased serum lactate	55163	PNPO	ORPHA:79096
HP:0002151	Increased serum lactate	55163	PNPO	OMIM:610090
HP:0002151	Increased serum lactate	271	AMPD2	OMIM:615809
HP:0002151	Increased serum lactate	87178	PNPT1	ORPHA:319514
HP:0002151	Increased serum lactate	87178	PNPT1	OMIM:614932
HP:0002151	Increased serum lactate	1340	COX6B1	OMIM:619051
HP:0002151	Increased serum lactate	84987	COX14	OMIM:619053
HP:0002151	Increased serum lactate	4718	NDUFC2	OMIM:619170
HP:0002151	Increased serum lactate	1738	DLD	ORPHA:2394
HP:0002151	Increased serum lactate	55687	TRMU	OMIM:613070
HP:0002151	Increased serum lactate	1351	COX8A	OMIM:619059
HP:0002151	Increased serum lactate	116228	COX20	OMIM:619054
HP:0002151	Increased serum lactate	100131801	PET100	OMIM:619055
HP:0002151	Increased serum lactate	100131801	PET100	ORPHA:255241
HP:0002151	Increased serum lactate	1020	CDK5	OMIM:616342
HP:0002151	Increased serum lactate	9692	PRORP	OMIM:619737
HP:0002151	Increased serum lactate	11232	POLG2	OMIM:618528
HP:0002151	Increased serum lactate	11232	POLG2	OMIM:610131
HP:0002151	Increased serum lactate	11232	POLG2	ORPHA:254892
HP:0002151	Increased serum lactate	55157	DARS2	ORPHA:137898
HP:0002151	Increased serum lactate	1339	COX6A2	OMIM:619062
HP:0002151	Increased serum lactate	100303755	PET117	OMIM:619063
HP:0002151	Increased serum lactate	9377	COX5A	OMIM:619064
HP:0002151	Increased serum lactate	1327	COX4I1	OMIM:619060
HP:0002151	Increased serum lactate	54968	TMEM70	OMIM:614052
HP:0002151	Increased serum lactate	4558	MT-TF	OMIM:545000
HP:0002151	Increased serum lactate	4558	MT-TF	ORPHA:550
HP:0002151	Increased serum lactate	4571	MT-TP	OMIM:545000
HP:0002151	Increased serum lactate	4565	MT-TI	OMIM:545000
HP:0002151	Increased serum lactate	5442	POLRMT	OMIM:619743
HP:0002151	Increased serum lactate	39	ACAT2	OMIM:614055
HP:0002151	Increased serum lactate	790955	UQCC3	OMIM:616111
HP:0002151	Increased serum lactate	246243	RNASEH1	OMIM:616479
HP:0002151	Increased serum lactate	10352	WARS2	ORPHA:572798
HP:0002151	Increased serum lactate	10352	WARS2	OMIM:617710
HP:0002151	Increased serum lactate	84300	UQCC2	OMIM:615824
HP:0002151	Increased serum lactate	51021	MRPS16	OMIM:610498
HP:0002151	Increased serum lactate	79731	NARS2	OMIM:616239
HP:0002151	Increased serum lactate	284439	SLC25A42	OMIM:618416
HP:0002151	Increased serum lactate	84947	SERAC1	OMIM:614739
HP:0002151	Increased serum lactate	28976	ACAD9	ORPHA:99901
HP:0002151	Increased serum lactate	3735	KARS1	OMIM:619196
HP:0002151	Increased serum lactate	3735	KARS1	OMIM:619147
HP:0002151	Increased serum lactate	5091	PC	OMIM:266150
HP:0002151	Increased serum lactate	55768	NGLY1	OMIM:615273
HP:0002151	Increased serum lactate	65080	MRPL44	OMIM:615395
HP:0002151	Increased serum lactate	27089	UQCRQ	OMIM:615159
HP:0002151	Increased serum lactate	51660	MPC1	OMIM:614741
HP:0002151	Increased serum lactate	1593	CYP27A1	ORPHA:909
HP:0002151	Increased serum lactate	7381	UQCRB	OMIM:615158
HP:0002151	Increased serum lactate	92609	TIMM50	OMIM:617698
HP:0002151	Increased serum lactate	92609	TIMM50	ORPHA:505216
HP:0002151	Increased serum lactate	4191	MDH2	OMIM:617339
HP:0002151	Increased serum lactate	90624	LYRM7	OMIM:615838
HP:0002151	Increased serum lactate	5428	POLG	OMIM:203700
HP:0002151	Increased serum lactate	5428	POLG	OMIM:607459
HP:0002151	Increased serum lactate	5428	POLG	ORPHA:254892
HP:0002151	Increased serum lactate	5428	POLG	OMIM:157640
HP:0002151	Increased serum lactate	5428	POLG	ORPHA:70595
HP:0002151	Increased serum lactate	55210	ATAD3A	ORPHA:496790
HP:0002151	Increased serum lactate	55210	ATAD3A	OMIM:618810
HP:0002151	Increased serum lactate	55210	ATAD3A	OMIM:617183
HP:0002151	Increased serum lactate	7385	UQCRC2	OMIM:615160
HP:0002151	Increased serum lactate	25828	TXN2	ORPHA:478029
HP:0002151	Increased serum lactate	25828	TXN2	OMIM:616811
HP:0002151	Increased serum lactate	4285	MIPEP	OMIM:617228
HP:0002151	Increased serum lactate	56652	TWNK	OMIM:616138
HP:0002151	Increased serum lactate	56652	TWNK	OMIM:607459
HP:0002151	Increased serum lactate	56652	TWNK	ORPHA:254892
HP:0002151	Increased serum lactate	56652	TWNK	OMIM:609286
HP:0002151	Increased serum lactate	56652	TWNK	ORPHA:70595
HP:0002151	Increased serum lactate	10531	PITRM1	OMIM:619405
HP:0002151	Increased serum lactate	270	AMPD1	ORPHA:45
HP:0002151	Increased serum lactate	272	AMPD3	ORPHA:45
HP:0002151	Increased serum lactate	38	ACAT1	ORPHA:134
HP:0002151	Increased serum lactate	55739	NAXD	OMIM:618321
HP:0002151	Increased serum lactate	79989	IFT56	OMIM:619534
HP:0002151	Increased serum lactate	125988	MICOS13	OMIM:618329
HP:0002151	Increased serum lactate	8565	YARS1	OMIM:619418
HP:0002151	Increased serum lactate	1384	CRAT	OMIM:617917
HP:0002151	Increased serum lactate	91574	MTRFR	OMIM:613559
HP:0002151	Increased serum lactate	3954	LETM1	OMIM:620089
HP:0002151	Increased serum lactate	23479	ISCU	OMIM:255125
HP:0002151	Increased serum lactate	27247	NFU1	OMIM:605711
HP:0002151	Increased serum lactate	57505	AARS2	OMIM:614096
HP:0002151	Increased serum lactate	81570	CLPB	OMIM:616271
HP:0002151	Increased serum lactate	81570	CLPB	ORPHA:445038
HP:0002151	Increased serum lactate	1892	ECHS1	OMIM:616277
HP:0002151	Increased serum lactate	1892	ECHS1	ORPHA:255241
HP:0002151	Increased serum lactate	51117	COQ4	OMIM:616276
HP:0002151	Increased serum lactate	51067	YARS2	OMIM:613561
HP:0002151	Increased serum lactate	133686	NADK2	OMIM:616034
HP:0002151	Increased serum lactate	57017	COQ9	OMIM:614654
HP:0002151	Increased serum lactate	23590	PDSS1	OMIM:614651
HP:0002151	Increased serum lactate	27429	HTRA2	OMIM:617248
HP:0002151	Increased serum lactate	57107	PDSS2	OMIM:614652
HP:0002151	Increased serum lactate	57107	PDSS2	ORPHA:255249
HP:0002151	Increased serum lactate	3329	HSPD1	OMIM:612233
HP:0002151	Increased serum lactate	291	SLC25A4	ORPHA:254892
HP:0002151	Increased serum lactate	291	SLC25A4	OMIM:609283
HP:0002151	Increased serum lactate	291	SLC25A4	OMIM:615418
HP:0002151	Increased serum lactate	50484	RRM2B	ORPHA:254892
HP:0002151	Increased serum lactate	3155	HMGCL	ORPHA:20
HP:0002151	Increased serum lactate	4572	MT-TQ	ORPHA:550
HP:0002151	Increased serum lactate	4512	MT-CO1	ORPHA:550
HP:0002151	Increased serum lactate	4513	MT-CO2	ORPHA:550
HP:0002151	Increased serum lactate	4514	MT-CO3	ORPHA:550
HP:0002151	Increased serum lactate	4575	MT-TS2	ORPHA:550
HP:0002151	Increased serum lactate	4564	MT-TH	ORPHA:550
HP:0002151	Increased serum lactate	4728	NDUFS8	OMIM:618222
HP:0002151	Increased serum lactate	4728	NDUFS8	ORPHA:255241
HP:0002151	Increased serum lactate	4723	NDUFV1	OMIM:618225
HP:0002151	Increased serum lactate	4723	NDUFV1	ORPHA:255241
HP:0002151	Increased serum lactate	763	CA5A	OMIM:615751
HP:0002151	Increased serum lactate	85476	GFM1	OMIM:609060
HP:0002151	Increased serum lactate	4719	NDUFS1	OMIM:618226
HP:0002151	Increased serum lactate	4719	NDUFS1	ORPHA:255241
HP:0002151	Increased serum lactate	4967	OGDH	OMIM:203740
HP:0002151	Increased serum lactate	4720	NDUFS2	OMIM:618228
HP:0002151	Increased serum lactate	4720	NDUFS2	ORPHA:70474
HP:0002151	Increased serum lactate	4720	NDUFS2	ORPHA:255241
HP:0002151	Increased serum lactate	5250	SLC25A3	ORPHA:91130
HP:0002151	Increased serum lactate	10102	TSFM	OMIM:610505
HP:0002151	Increased serum lactate	8050	PDHX	ORPHA:255182
HP:0002151	Increased serum lactate	56945	MRPS22	OMIM:611719
HP:0002151	Increased serum lactate	4568	MT-TL2	ORPHA:663
HP:0002151	Increased serum lactate	26275	HIBCH	ORPHA:88639
HP:0002151	Increased serum lactate	23395	LARS2	OMIM:617021
HP:0002151	Increased serum lactate	51103	NDUFAF1	OMIM:618234
HP:0002151	Increased serum lactate	6647	SOD1	OMIM:618598
HP:0002151	Increased serum lactate	79587	CARS2	ORPHA:477774
HP:0002151	Increased serum lactate	79587	CARS2	OMIM:616672
HP:0002151	Increased serum lactate	126328	NDUFA11	OMIM:618236
HP:0002151	Increased serum lactate	8867	SYNJ1	OMIM:617389
HP:0002151	Increased serum lactate	51601	LIPT1	OMIM:616299
HP:0002151	Increased serum lactate	51601	LIPT1	ORPHA:255241
HP:0002151	Increased serum lactate	4722	NDUFS3	OMIM:618230
HP:0002151	Increased serum lactate	4722	NDUFS3	ORPHA:255241
HP:0002151	Increased serum lactate	8492	PRSS12	OMIM:249500
HP:0002151	Increased serum lactate	5160	PDHA1	OMIM:312170
HP:0002151	Increased serum lactate	5160	PDHA1	ORPHA:79243
HP:0002151	Increased serum lactate	5160	PDHA1	ORPHA:255241
HP:0002151	Increased serum lactate	54931	TRMT10C	OMIM:616974
HP:0002151	Increased serum lactate	29078	NDUFAF4	OMIM:618237
HP:0002151	Increased serum lactate	137682	NDUFAF6	OMIM:618239
HP:0002151	Increased serum lactate	137682	NDUFAF6	ORPHA:255241
HP:0002151	Increased serum lactate	11093	ADAMTS13	OMIM:274150
HP:0002151	Increased serum lactate	3939	LDHA	OMIM:612933
HP:0002151	Increased serum lactate	4952	OCRL	ORPHA:534
HP:0002151	Increased serum lactate	4204	MECP2	ORPHA:778
HP:0002151	Increased serum lactate	90161	HS6ST2	OMIM:301025
HP:0002151	Increased serum lactate	4694	NDUFA1	OMIM:301020
HP:0002151	Increased serum lactate	55967	NDUFA12	OMIM:618244
HP:0002151	Increased serum lactate	55967	NDUFA12	ORPHA:255241
HP:0002151	Increased serum lactate	84340	GFM2	ORPHA:565624
HP:0002151	Increased serum lactate	84340	GFM2	OMIM:618397
HP:0002151	Increased serum lactate	4715	NDUFB9	OMIM:618245
HP:0002151	Increased serum lactate	4704	NDUFA9	OMIM:618247
HP:0002151	Increased serum lactate	4704	NDUFA9	ORPHA:255241
HP:0002151	Increased serum lactate	51116	MRPS2	OMIM:617950
HP:0002151	Increased serum lactate	9512	PMPCB	OMIM:617954
HP:0002151	Increased serum lactate	51079	NDUFA13	OMIM:618249
HP:0002151	Increased serum lactate	51079	NDUFA13	ORPHA:255241
HP:0002151	Increased serum lactate	708	C1QBP	OMIM:617713
HP:0002151	Increased serum lactate	9361	LONP1	ORPHA:79243
HP:0002151	Increased serum lactate	55750	AGK	OMIM:212350
HP:0002151	Increased serum lactate	54704	PDP1	ORPHA:79246
HP:0002151	Increased serum lactate	128989	TANGO2	ORPHA:480864
HP:0002151	Increased serum lactate	128989	TANGO2	OMIM:616878
HP:0002151	Increased serum lactate	91647	ATPAF2	OMIM:604273
HP:0002151	Increased serum lactate	8604	SLC25A12	OMIM:612949
HP:0002151	Increased serum lactate	9056	SLC7A7	OMIM:222700
HP:0002151	Increased serum lactate	80324	PUS1	OMIM:600462
HP:0002151	Increased serum lactate	55863	TMEM126B	OMIM:618250
HP:0002151	Increased serum lactate	112812	FDX2	OMIM:251900
HP:0002151	Increased serum lactate	6390	SDHB	OMIM:619224
HP:0002151	Increased serum lactate	63931	MRPS14	OMIM:618378
HP:0002151	Increased serum lactate	8802	SUCLG1	ORPHA:17
HP:0002151	Increased serum lactate	4714	NDUFB8	OMIM:618252
HP:0002151	Increased serum lactate	4714	NDUFB8	ORPHA:70474
HP:0002151	Increased serum lactate	4700	NDUFA6	OMIM:618253
HP:0002151	Increased serum lactate	84705	GTPBP3	OMIM:616198
HP:0002151	Increased serum lactate	6773	STAT2	OMIM:616636
HP:0002151	Increased serum lactate	27010	TPK1	OMIM:614458
HP:0002151	Increased serum lactate	3028	HSD17B10	ORPHA:391428
HP:0002151	Increased serum lactate	9997	SCO2	OMIM:604377
HP:0002151	Increased serum lactate	9997	SCO2	ORPHA:70474
HP:0002151	Increased serum lactate	9997	SCO2	ORPHA:521411
HP:0002151	Increased serum lactate	11212	PLPBP	OMIM:617290
HP:0002151	Increased serum lactate	2998	GYS2	OMIM:240600
HP:0002151	Increased serum lactate	11019	LIAS	OMIM:614462
HP:0002151	Increased serum lactate	11222	MRPL3	OMIM:614582
HP:0002151	Increased serum lactate	81689	ISCA1	OMIM:617613
HP:0002151	Increased serum lactate	4329	ALDH6A1	OMIM:614105
HP:0002151	Increased serum lactate	25915	NDUFAF3	ORPHA:70474
HP:0002151	Increased serum lactate	128240	NAXE	OMIM:617186
HP:0002151	Increased serum lactate	6182	MRPL12	OMIM:618951
HP:0002151	Increased serum lactate	7084	TK2	OMIM:617069
HP:0002151	Increased serum lactate	28957	MRPS28	OMIM:618958
HP:0002151	Increased serum lactate	57570	TRMT5	OMIM:616539
HP:0002151	Increased serum lactate	5261	PHKG2	OMIM:613027
HP:0002151	Increased serum lactate	57038	RARS2	OMIM:611523
HP:0002151	Increased serum lactate	498	ATP5F1A	OMIM:620358
HP:0002151	Increased serum lactate	7284	TUFM	OMIM:610678
HP:0002151	Increased serum lactate	617	BCS1L	OMIM:124000
HP:0002151	Increased serum lactate	6389	SDHA	ORPHA:255241
HP:0002151	Increased serum lactate	6389	SDHA	OMIM:252011
HP:0002151	Increased serum lactate	80704	SLC19A3	ORPHA:255241
HP:0002151	Increased serum lactate	91942	NDUFAF2	ORPHA:255241
HP:0002151	Increased serum lactate	55572	FOXRED1	ORPHA:255241
HP:0002151	Increased serum lactate	4729	NDUFV2	ORPHA:255241
HP:0002151	Increased serum lactate	51204	TACO1	ORPHA:255241
HP:0002151	Increased serum lactate	4724	NDUFS4	ORPHA:255241
HP:0002151	Increased serum lactate	79133	NDUFAF5	ORPHA:255241
HP:0002151	Increased serum lactate	1355	COX15	ORPHA:255241
HP:0002151	Increased serum lactate	374291	NDUFS7	ORPHA:255241
HP:0002151	Increased serum lactate	4705	NDUFA10	ORPHA:255241
HP:0002151	Increased serum lactate	4695	NDUFA2	ORPHA:255241
HP:0002151	Increased serum lactate	4697	NDUFA4	ORPHA:255241
HP:0002151	Increased serum lactate	1716	DGUOK	OMIM:617070
HP:0002151	Increased serum lactate	27235	COQ2	ORPHA:255249
HP:0002151	Increased serum lactate	51081	MRPS7	OMIM:617872
HP:0002151	Increased serum lactate	1537	CYC1	OMIM:615453
HP:0002151	Increased serum lactate	63899	NSUN3	OMIM:619012
HP:0002151	Increased serum lactate	119559	SFXN4	OMIM:615578
HP:0002151	Increased serum lactate	131118	DNAJC19	ORPHA:66634
HP:0002151	Increased serum lactate	2806	GOT2	OMIM:618721
HP:0002151	Increased serum lactate	55005	RMND1	OMIM:614922
HP:0002151	Increased serum lactate	124454	EARS2	OMIM:614924
HP:0002151	Increased serum lactate	84842	HPDL	OMIM:619026
HP:0002151	Increased serum lactate	1468	SLC25A10	OMIM:618972
HP:0002151	Increased serum lactate	29928	TIMM22	OMIM:618851
HP:0002151	Increased serum lactate	51733	UPB1	OMIM:613161
HP:0002151	Increased serum lactate	115286	SLC25A26	OMIM:616794
HP:0002151	Increased serum lactate	8803	SUCLA2	OMIM:612073
HP:0002151	Increased serum lactate	9054	NFS1	OMIM:619386
HP:0002151	Increased serum lactate	22868	FASTKD2	OMIM:618855
HP:0002151	Increased serum lactate	7388	UQCRH	OMIM:620137
HP:0002151	Increased serum lactate	54938	SARS2	OMIM:613845
HP:0002151	Increased serum lactate	50640	PNPLA8	OMIM:251950
HP:0002151	Increased serum lactate	5836	PYGL	ORPHA:369
HP:0003639	Elevated urinary epinephrine	5979	RET	OMIM:162300
HP:0003639	Elevated urinary epinephrine	5979	RET	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	5979	RET	ORPHA:276621
HP:0003639	Elevated urinary epinephrine	5979	RET	OMIM:171400
HP:0003639	Elevated urinary epinephrine	7428	VHL	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	7428	VHL	ORPHA:276621
HP:0003639	Elevated urinary epinephrine	1743	DLST	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	4191	MDH2	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	6389	SDHA	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	23095	KIF1B	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	2271	FH	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	8402	SLC25A11	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	54949	SDHAF2	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	55654	TMEM127	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	4763	NF1	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	6391	SDHC	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	6392	SDHD	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	6392	SDHD	ORPHA:276621
HP:0003639	Elevated urinary epinephrine	6390	SDHB	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	6390	SDHB	ORPHA:276621
HP:0003639	Elevated urinary epinephrine	4149	MAX	ORPHA:29072
HP:0003639	Elevated urinary epinephrine	1788	DNMT3A	ORPHA:276621
HP:0003639	Elevated urinary epinephrine	2034	EPAS1	ORPHA:276621
HP:0003640	CNS foam cells	427	ASAH1	ORPHA:333
HP:0003640	CNS foam cells	10577	NPC2	OMIM:607625
HP:0003640	CNS foam cells	4864	NPC1	OMIM:257220
HP:0003641	Hemoglobinuria	8573	CASK	OMIM:300908
HP:0003641	Hemoglobinuria	2539	G6PD	OMIM:300908
HP:0003641	Hemoglobinuria	51251	NT5C3A	OMIM:266120
HP:0003641	Hemoglobinuria	3075	CFH	ORPHA:244242
HP:0003641	Hemoglobinuria	3426	CFI	ORPHA:244242
HP:0003641	Hemoglobinuria	4179	CD46	ORPHA:244242
HP:0003641	Hemoglobinuria	101101692	HELLPAR	ORPHA:244242
HP:0003641	Hemoglobinuria	226	ALDOA	OMIM:611881
HP:0003641	Hemoglobinuria	9780	PIEZO1	OMIM:194380
HP:0003641	Hemoglobinuria	5277	PIGA	ORPHA:447
HP:0003641	Hemoglobinuria	51604	PIGT	OMIM:615399
HP:0003641	Hemoglobinuria	966	CD59	OMIM:612300
HP:0003642	Type I transferrin isoform profile	29929	ALG6	OMIM:603147
HP:0003642	Type I transferrin isoform profile	29929	ALG6	ORPHA:79320
HP:0003642	Type I transferrin isoform profile	1650	DDOST	ORPHA:300536
HP:0003642	Type I transferrin isoform profile	1650	DDOST	OMIM:614507
HP:0003642	Type I transferrin isoform profile	4351	MPI	OMIM:602579
HP:0003642	Type I transferrin isoform profile	8813	DPM1	OMIM:608799
HP:0003642	Type I transferrin isoform profile	6748	SSR4	OMIM:300934
HP:0003642	Type I transferrin isoform profile	85365	ALG2	OMIM:607906
HP:0003642	Type I transferrin isoform profile	85365	ALG2	ORPHA:79326
HP:0003642	Type I transferrin isoform profile	1798	DPAGT1	OMIM:608093
HP:0003642	Type I transferrin isoform profile	8818	DPM2	ORPHA:329178
HP:0003642	Type I transferrin isoform profile	22845	DOLK	ORPHA:91131
HP:0003642	Type I transferrin isoform profile	22845	DOLK	OMIM:610768
HP:0003642	Type I transferrin isoform profile	9526	MPDU1	ORPHA:79323
HP:0003642	Type I transferrin isoform profile	79053	ALG8	ORPHA:79325
HP:0003642	Type I transferrin isoform profile	79053	ALG8	OMIM:608104
HP:0003642	Type I transferrin isoform profile	79087	ALG12	OMIM:607143
HP:0003642	Type I transferrin isoform profile	10195	ALG3	OMIM:601110
HP:0003642	Type I transferrin isoform profile	79644	SRD5A3	ORPHA:324737
HP:0003642	Type I transferrin isoform profile	79644	SRD5A3	OMIM:612379
HP:0003642	Type I transferrin isoform profile	84061	MAGT1	OMIM:301031
HP:0003642	Type I transferrin isoform profile	440138	ALG11	ORPHA:280071
HP:0003642	Type I transferrin isoform profile	440138	ALG11	OMIM:613661
HP:0003642	Type I transferrin isoform profile	79868	ALG13	OMIM:300884
HP:0003642	Type I transferrin isoform profile	91869	RFT1	OMIM:612015
HP:0003642	Type I transferrin isoform profile	54344	DPM3	OMIM:612937
HP:0003642	Type I transferrin isoform profile	56052	ALG1	OMIM:608540
HP:0003642	Type I transferrin isoform profile	5373	PMM2	OMIM:212065
HP:0003643	Sulfite oxidase deficiency	10243	GPHN	OMIM:615501
HP:0003643	Sulfite oxidase deficiency	4337	MOCS1	OMIM:252150
HP:0003643	Sulfite oxidase deficiency	6821	SUOX	OMIM:272300
HP:0008166	Decreased beta-galactosidase activity	2720	GLB1	OMIM:253010
HP:0008166	Decreased beta-galactosidase activity	2720	GLB1	OMIM:230650
HP:0008166	Decreased beta-galactosidase activity	2720	GLB1	OMIM:230500
HP:0008166	Decreased beta-galactosidase activity	2720	GLB1	OMIM:230600
HP:0008166	Decreased beta-galactosidase activity	2720	GLB1	ORPHA:79255
HP:0008166	Decreased beta-galactosidase activity	5476	CTSA	OMIM:256540
HP:0008166	Decreased beta-galactosidase activity	2582	GALE	OMIM:230350
HP:0003645	Prolonged partial thromboplastin time	10128	LRPPRC	OMIM:220111
HP:0003645	Prolonged partial thromboplastin time	2157	F8	ORPHA:177926
HP:0003645	Prolonged partial thromboplastin time	2157	F8	OMIM:306700
HP:0003645	Prolonged partial thromboplastin time	2157	F8	ORPHA:169805
HP:0003645	Prolonged partial thromboplastin time	2157	F8	ORPHA:169802
HP:0003645	Prolonged partial thromboplastin time	2153	F5	OMIM:188055
HP:0003645	Prolonged partial thromboplastin time	2153	F5	OMIM:227400
HP:0003645	Prolonged partial thromboplastin time	8216	LZTR1	OMIM:616564
HP:0003645	Prolonged partial thromboplastin time	2677	GGCX	OMIM:277450
HP:0003645	Prolonged partial thromboplastin time	2627	GATA6	ORPHA:2255
HP:0003645	Prolonged partial thromboplastin time	23600	AMACR	OMIM:214950
HP:0003645	Prolonged partial thromboplastin time	6718	AKR1D1	ORPHA:79303
HP:0003645	Prolonged partial thromboplastin time	2161	F12	OMIM:234000
HP:0003645	Prolonged partial thromboplastin time	2161	F12	ORPHA:330
HP:0003645	Prolonged partial thromboplastin time	2158	F9	OMIM:306900
HP:0003645	Prolonged partial thromboplastin time	79868	ALG13	OMIM:300884
HP:0003645	Prolonged partial thromboplastin time	3998	LMAN1	ORPHA:35909
HP:0003645	Prolonged partial thromboplastin time	90411	MCFD2	ORPHA:35909
HP:0003645	Prolonged partial thromboplastin time	79631	EFL1	OMIM:617941
HP:0003645	Prolonged partial thromboplastin time	2542	SLC37A4	OMIM:619525
HP:0003645	Prolonged partial thromboplastin time	2160	F11	OMIM:612416
HP:0003645	Prolonged partial thromboplastin time	2160	F11	ORPHA:329
HP:0003645	Prolonged partial thromboplastin time	2683	B4GALT1	ORPHA:79332
HP:0003645	Prolonged partial thromboplastin time	2683	B4GALT1	OMIM:607091
HP:0003645	Prolonged partial thromboplastin time	8813	DPM1	OMIM:608799
HP:0003645	Prolonged partial thromboplastin time	2159	F10	OMIM:227600
HP:0003645	Prolonged partial thromboplastin time	85365	ALG2	OMIM:607906
HP:0003645	Prolonged partial thromboplastin time	3818	KLKB1	OMIM:612423
HP:0003645	Prolonged partial thromboplastin time	5236	PGM1	OMIM:614921
HP:0003645	Prolonged partial thromboplastin time	2147	F2	OMIM:613679
HP:0003645	Prolonged partial thromboplastin time	2147	F2	ORPHA:325
HP:0003645	Prolonged partial thromboplastin time	3117	HLA-DQA1	OMIM:212750
HP:0003645	Prolonged partial thromboplastin time	3119	HLA-DQB1	OMIM:212750
HP:0003645	Prolonged partial thromboplastin time	2184	FAH	OMIM:276700
HP:0003645	Prolonged partial thromboplastin time	10020	GNE	ORPHA:3166
HP:0003645	Prolonged partial thromboplastin time	79087	ALG12	ORPHA:79324
HP:0003645	Prolonged partial thromboplastin time	79087	ALG12	OMIM:607143
HP:0003645	Prolonged partial thromboplastin time	5825	ABCD3	OMIM:616278
HP:0003645	Prolonged partial thromboplastin time	3827	KNG1	OMIM:228960
HP:0003645	Prolonged partial thromboplastin time	8985	PLOD3	OMIM:612394
HP:0003645	Prolonged partial thromboplastin time	6654	SOS1	OMIM:610733
HP:0003645	Prolonged partial thromboplastin time	26276	VPS33B	OMIM:620010
HP:0003645	Prolonged partial thromboplastin time	5373	PMM2	OMIM:212065
HP:0003646	Bicarbonaturia	229	ALDOB	OMIM:229600
HP:0003646	Bicarbonaturia	4952	OCRL	OMIM:309000
HP:0003646	Bicarbonaturia	1962	EHHADH	ORPHA:3337
HP:0003646	Bicarbonaturia	2628	GATM	ORPHA:3337
HP:0003646	Bicarbonaturia	137682	NDUFAF6	ORPHA:3337
HP:0003646	Bicarbonaturia	6569	SLC34A1	ORPHA:3337
HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2108	ETFA	OMIM:231680
HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2109	ETFB	OMIM:231680
HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2110	ETFDH	OMIM:231680
HP:0003648	Lacticaciduria	8802	SUCLG1	OMIM:245400
HP:0003648	Lacticaciduria	100303755	PET117	OMIM:619063
HP:0003648	Lacticaciduria	55863	TMEM126B	OMIM:618250
HP:0003648	Lacticaciduria	4535	MT-ND1	ORPHA:255210
HP:0003648	Lacticaciduria	4536	MT-ND2	ORPHA:255210
HP:0003648	Lacticaciduria	4537	MT-ND3	ORPHA:255210
HP:0003648	Lacticaciduria	4538	MT-ND4	ORPHA:255210
HP:0003648	Lacticaciduria	4567	MT-TL1	ORPHA:255210
HP:0003648	Lacticaciduria	4578	MT-TW	ORPHA:255210
HP:0003648	Lacticaciduria	4577	MT-TV	ORPHA:255210
HP:0003648	Lacticaciduria	4508	MT-ATP6	ORPHA:255210
HP:0003648	Lacticaciduria	4540	MT-ND5	ORPHA:255210
HP:0003648	Lacticaciduria	4541	MT-ND6	ORPHA:255210
HP:0003648	Lacticaciduria	4566	MT-TK	ORPHA:255210
HP:0003648	Lacticaciduria	27247	NFU1	OMIM:605711
HP:0003648	Lacticaciduria	4716	NDUFB10	OMIM:619003
HP:0003648	Lacticaciduria	55687	TRMU	OMIM:613070
HP:0003648	Lacticaciduria	197257	LDHD	OMIM:245450
HP:0003648	Lacticaciduria	4704	NDUFA9	OMIM:618247
HP:0003648	Lacticaciduria	57128	LYRM4	OMIM:615595
HP:0003648	Lacticaciduria	51601	LIPT1	OMIM:616299
HP:0003648	Lacticaciduria	2628	GATM	OMIM:134600
HP:0003648	Lacticaciduria	9054	NFS1	OMIM:619386
HP:0003648	Lacticaciduria	6392	SDHD	OMIM:619167
HP:0003648	Lacticaciduria	4724	NDUFS4	OMIM:252010
HP:0003648	Lacticaciduria	763	CA5A	OMIM:615751
HP:0003648	Lacticaciduria	89874	SLC25A21	OMIM:618811
HP:0003648	Lacticaciduria	617	BCS1L	OMIM:124000
HP:0003648	Lacticaciduria	54704	PDP1	ORPHA:79246
HP:0003648	Lacticaciduria	91647	ATPAF2	OMIM:604273
HP:0003649	Abnormality of glycoside metabolism	2720	GLB1	OMIM:253010
HP:0003649	Abnormality of glycoside metabolism	2720	GLB1	OMIM:230650
HP:0003649	Abnormality of glycoside metabolism	2720	GLB1	OMIM:230500
HP:0003649	Abnormality of glycoside metabolism	2720	GLB1	OMIM:230600
HP:0003649	Abnormality of glycoside metabolism	2720	GLB1	ORPHA:79255
HP:0003649	Abnormality of glycoside metabolism	5476	CTSA	OMIM:256540
HP:0003649	Abnormality of glycoside metabolism	2582	GALE	OMIM:230350
HP:0003651	Foam cells	6309	SC5D	OMIM:607330
HP:0003651	Foam cells	427	ASAH1	ORPHA:333
HP:0003651	Foam cells	2720	GLB1	OMIM:230650
HP:0003651	Foam cells	3931	LCAT	OMIM:245900
HP:0003651	Foam cells	10577	NPC2	OMIM:607625
HP:0003651	Foam cells	5294	PIK3CG	OMIM:619802
HP:0003651	Foam cells	1439	CSF2RB	ORPHA:264675
HP:0003651	Foam cells	1438	CSF2RA	ORPHA:264675
HP:0003651	Foam cells	3123	HLA-DRB1	ORPHA:747
HP:0003651	Foam cells	4864	NPC1	OMIM:257220
HP:0003651	Foam cells	348	APOE	OMIM:269600
HP:0003651	Foam cells	6609	SMPD1	OMIM:607616
HP:0003651	Foam cells	6609	SMPD1	OMIM:257200
HP:0003651	Foam cells	3988	LIPA	OMIM:278000
HP:0003651	Foam cells	3988	LIPA	ORPHA:75233
HP:0003651	Foam cells	4758	NEU1	OMIM:256550
HP:0003652	Recurrent myoglobinuria	27235	COQ2	OMIM:607426
HP:0003652	Recurrent myoglobinuria	23175	LPIN1	ORPHA:99845
HP:0003652	Recurrent myoglobinuria	4512	MT-CO1	ORPHA:99845
HP:0003652	Recurrent myoglobinuria	4514	MT-CO3	ORPHA:99845
HP:0003652	Recurrent myoglobinuria	5837	PYGM	ORPHA:368
HP:0003653	Cellular metachromasia	138050	HGSNAT	OMIM:252930
HP:0003653	Cellular metachromasia	2799	GNS	OMIM:252940
HP:0003654	Reduced dihydropyrimidine dehydrogenase level	1806	DPYD	OMIM:274270
HP:0003654	Reduced dihydropyrimidine dehydrogenase level	1806	DPYD	ORPHA:1675
HP:0003654	Reduced dihydropyrimidine dehydrogenase level	1807	DPYS	OMIM:222748
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	4247	MGAT2	ORPHA:79329
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	10483	SEC23B	OMIM:224100
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	146059	CDAN1	OMIM:224120
HP:0003656	Decreased beta-glucocerebrosidase level	2629	GBA1	OMIM:231000
HP:0003657	Vascular granular osmiophilic material deposition	5538	PPT1	OMIM:256730
HP:0003657	Vascular granular osmiophilic material deposition	5654	HTRA1	ORPHA:199354
HP:0003657	Vascular granular osmiophilic material deposition	54982	CLN6	OMIM:204300
HP:0003657	Vascular granular osmiophilic material deposition	80331	DNAJC5	OMIM:162350
HP:0003657	Vascular granular osmiophilic material deposition	1509	CTSD	OMIM:610127
HP:0003657	Vascular granular osmiophilic material deposition	2055	CLN8	ORPHA:1947
HP:0003657	Vascular granular osmiophilic material deposition	4854	NOTCH3	OMIM:125310
HP:0003658	Hypomethioninemia	4552	MTRR	OMIM:236270
HP:0003658	Hypomethioninemia	4552	MTRR	ORPHA:2169
HP:0003658	Hypomethioninemia	25974	MMACHC	ORPHA:79282
HP:0003658	Hypomethioninemia	25974	MMACHC	OMIM:277400
HP:0003658	Hypomethioninemia	55788	LMBRD1	ORPHA:79284
HP:0003658	Hypomethioninemia	4524	MTHFR	ORPHA:395
HP:0003658	Hypomethioninemia	5826	ABCD4	OMIM:614857
HP:0003658	Hypomethioninemia	4548	MTR	OMIM:250940
HP:0003658	Hypomethioninemia	27249	MMADHC	OMIM:277410
HP:0003658	Hypomethioninemia	5052	PRDX1	OMIM:277400
HP:0003677	Slowly progressive	8322	FZD4	OMIM:133780
HP:0003677	Slowly progressive	4041	LRP5	OMIM:133780
HP:0003677	Slowly progressive	23064	SETX	OMIM:602433
HP:0003677	Slowly progressive	7072	TIA1	OMIM:604454
HP:0003677	Slowly progressive	4141	MARS1	OMIM:616280
HP:0003677	Slowly progressive	1410	CRYAB	OMIM:608810
HP:0003677	Slowly progressive	23646	PLD3	OMIM:617770
HP:0003677	Slowly progressive	4099	MAG	OMIM:616680
HP:0003677	Slowly progressive	10159	ATP6AP2	OMIM:300911
HP:0003677	Slowly progressive	8323	FZD6	OMIM:161050
HP:0003677	Slowly progressive	126129	CPT1C	OMIM:616282
HP:0003677	Slowly progressive	1778	DYNC1H1	OMIM:158600
HP:0003677	Slowly progressive	1778	DYNC1H1	OMIM:614228
HP:0003677	Slowly progressive	6834	SURF1	OMIM:616684
HP:0003677	Slowly progressive	114548	NLRP3	OMIM:617772
HP:0003677	Slowly progressive	57465	TBC1D24	OMIM:616044
HP:0003677	Slowly progressive	79188	TMEM43	OMIM:614302
HP:0003677	Slowly progressive	22880	MORC2	OMIM:616688
HP:0003677	Slowly progressive	80821	DDHD1	OMIM:609340
HP:0003677	Slowly progressive	4311	MME	OMIM:617018
HP:0003677	Slowly progressive	4311	MME	OMIM:617017
HP:0003677	Slowly progressive	79912	PYROXD1	OMIM:617258
HP:0003677	Slowly progressive	400916	CHCHD10	OMIM:616209
HP:0003677	Slowly progressive	400916	CHCHD10	OMIM:615048
HP:0003677	Slowly progressive	4171	MCM2	OMIM:616968
HP:0003677	Slowly progressive	6606	SMN1	OMIM:271150
HP:0003677	Slowly progressive	5165	PDK3	OMIM:300905
HP:0003677	Slowly progressive	203547	VMA21	OMIM:310440
HP:0003677	Slowly progressive	8291	DYSF	OMIM:253601
HP:0003677	Slowly progressive	23345	SYNE1	OMIM:610743
HP:0003677	Slowly progressive	7003	TEAD1	OMIM:108985
HP:0003677	Slowly progressive	57679	ALS2	OMIM:606353
HP:0003677	Slowly progressive	57679	ALS2	OMIM:607225
HP:0003677	Slowly progressive	1184	CLCN5	OMIM:308990
HP:0003677	Slowly progressive	4359	MPZ	OMIM:180800
HP:0003677	Slowly progressive	4359	MPZ	OMIM:118200
HP:0003677	Slowly progressive	5376	PMP22	OMIM:180800
HP:0003677	Slowly progressive	5376	PMP22	OMIM:118220
HP:0003677	Slowly progressive	10049	DNAJB6	OMIM:603511
HP:0003677	Slowly progressive	4000	LMNA	OMIM:181350
HP:0003677	Slowly progressive	1120	CHKB	OMIM:602541
HP:0003677	Slowly progressive	3748	KCNC3	OMIM:605259
HP:0003677	Slowly progressive	440193	CCDC88C	OMIM:616053
HP:0003677	Slowly progressive	538	ATP7A	OMIM:300489
HP:0003677	Slowly progressive	729920	CRPPA	OMIM:616052
HP:0003677	Slowly progressive	200205	IBA57	OMIM:616451
HP:0003677	Slowly progressive	58	ACTA1	OMIM:616852
HP:0003677	Slowly progressive	84876	ORAI1	OMIM:615883
HP:0003677	Slowly progressive	26011	TENM4	OMIM:616736
HP:0003677	Slowly progressive	2911	GRM1	OMIM:614831
HP:0003677	Slowly progressive	2911	GRM1	OMIM:617691
HP:0003677	Slowly progressive	90678	LRSAM1	OMIM:614436
HP:0003677	Slowly progressive	547	KIF1A	OMIM:610357
HP:0003677	Slowly progressive	547	KIF1A	OMIM:201300
HP:0003677	Slowly progressive	9829	DNAJC6	OMIM:615528
HP:0003677	Slowly progressive	4625	MYH7	OMIM:160500
HP:0003677	Slowly progressive	4625	MYH7	OMIM:255160
HP:0003677	Slowly progressive	4625	MYH7	OMIM:608358
HP:0003677	Slowly progressive	343641	TGM6	OMIM:613908
HP:0003677	Slowly progressive	51324	SPG21	OMIM:248900
HP:0003677	Slowly progressive	60482	SLC5A7	OMIM:158580
HP:0003677	Slowly progressive	3315	HSPB1	OMIM:608634
HP:0003677	Slowly progressive	4204	MECP2	OMIM:300055
HP:0003677	Slowly progressive	2483	FRG1	OMIM:158900
HP:0003677	Slowly progressive	8888	MCM3AP	OMIM:618124
HP:0003677	Slowly progressive	122622	ADSS1	OMIM:617030
HP:0003677	Slowly progressive	9131	AIFM1	OMIM:300614
HP:0003677	Slowly progressive	199857	ALG14	OMIM:616227
HP:0003677	Slowly progressive	22954	TRIM32	OMIM:254110
HP:0003677	Slowly progressive	8622	PDE8B	OMIM:609161
HP:0003677	Slowly progressive	54834	GDAP2	OMIM:618369
HP:0003677	Slowly progressive	5173	PDYN	OMIM:610245
HP:0003677	Slowly progressive	2055	CLN8	OMIM:610003
HP:0003677	Slowly progressive	51079	NDUFA13	OMIM:618249
HP:0003677	Slowly progressive	10939	AFG3L2	OMIM:610246
HP:0003677	Slowly progressive	85365	ALG2	OMIM:616228
HP:0003677	Slowly progressive	291	SLC25A4	OMIM:615418
HP:0003677	Slowly progressive	2010	EMD	OMIM:310300
HP:0003677	Slowly progressive	29967	LRP12	OMIM:164310
HP:0003677	Slowly progressive	80208	SPG11	OMIM:602099
HP:0003677	Slowly progressive	80208	SPG11	OMIM:616668
HP:0003677	Slowly progressive	9499	MYOT	OMIM:609200
HP:0003677	Slowly progressive	5582	PRKCG	OMIM:605361
HP:0003677	Slowly progressive	5832	ALDH18A1	OMIM:601162
HP:0003677	Slowly progressive	2632	GBE1	OMIM:263570
HP:0003677	Slowly progressive	11315	PARK7	OMIM:606324
HP:0003677	Slowly progressive	6712	SPTBN2	OMIM:600224
HP:0003677	Slowly progressive	6712	SPTBN2	OMIM:615386
HP:0003677	Slowly progressive	2705	GJB1	OMIM:302800
HP:0003677	Slowly progressive	10667	FARS2	OMIM:617046
HP:0003677	Slowly progressive	2992	GYG1	OMIM:616199
HP:0003677	Slowly progressive	390594	KBTBD13	OMIM:609273
HP:0003677	Slowly progressive	7453	WARS1	OMIM:617721
HP:0003677	Slowly progressive	26090	ABHD12	OMIM:612674
HP:0003677	Slowly progressive	5981	RFC1	OMIM:614575
HP:0003677	Slowly progressive	8635	RNASET2	OMIM:612951
HP:0003677	Slowly progressive	3908	LAMA2	OMIM:618138
HP:0003677	Slowly progressive	1600	DAB1	OMIM:615945
HP:0003677	Slowly progressive	1200	TPP1	OMIM:609270
HP:0003677	Slowly progressive	11160	ERLIN2	OMIM:611225
HP:0003677	Slowly progressive	55157	DARS2	OMIM:611105
HP:0003677	Slowly progressive	220296	HEPACAM	OMIM:613925
HP:0003677	Slowly progressive	28982	FLVCR1	OMIM:609033
HP:0003677	Slowly progressive	10568	SLC34A2	OMIM:265100
HP:0003677	Slowly progressive	10585	POMT1	OMIM:609308
HP:0003677	Slowly progressive	7273	TTN	OMIM:603689
HP:0003677	Slowly progressive	7273	TTN	OMIM:600334
HP:0003677	Slowly progressive	1938	EEF2	OMIM:609306
HP:0003677	Slowly progressive	65260	COA7	OMIM:618387
HP:0003677	Slowly progressive	65018	PINK1	OMIM:605909
HP:0003677	Slowly progressive	10717	AP4B1	OMIM:614066
HP:0003677	Slowly progressive	1763	DNA2	OMIM:615156
HP:0003677	Slowly progressive	2318	FLNC	OMIM:614065
HP:0003677	Slowly progressive	2318	FLNC	OMIM:609524
HP:0003677	Slowly progressive	8988	HSPB3	OMIM:613376
HP:0003677	Slowly progressive	55280	CWF19L1	OMIM:616127
HP:0003677	Slowly progressive	9927	MFN2	OMIM:609260
HP:0003677	Slowly progressive	84665	MYPN	OMIM:617336
HP:0003677	Slowly progressive	199221	DZIP1L	OMIM:617610
HP:0003677	Slowly progressive	255928	SYT14	OMIM:614229
HP:0003677	Slowly progressive	5828	PEX2	OMIM:614867
HP:0003677	Slowly progressive	1639	DCTN1	OMIM:607641
HP:0003677	Slowly progressive	60481	ELOVL5	OMIM:615957
HP:0003677	Slowly progressive	2335	FN1	OMIM:601894
HP:0003677	Slowly progressive	10059	DNM1L	OMIM:610708
HP:0003677	Slowly progressive	81	ACTN4	OMIM:603278
HP:0003677	Slowly progressive	3208	HPCA	OMIM:224500
HP:0003677	Slowly progressive	1785	DNM2	OMIM:160150
HP:0003677	Slowly progressive	64419	MTMR14	OMIM:160150
HP:0003677	Slowly progressive	476	ATP1A1	OMIM:618036
HP:0003677	Slowly progressive	5375	PMP2	OMIM:618279
HP:0003677	Slowly progressive	23095	KIF1B	OMIM:118210
HP:0003677	Slowly progressive	6261	RYR1	OMIM:117000
HP:0003677	Slowly progressive	83636	C19orf12	OMIM:615043
HP:0003677	Slowly progressive	1798	DPAGT1	OMIM:614750
HP:0003677	Slowly progressive	5192	PEX10	OMIM:614871
HP:0003677	Slowly progressive	10342	TFG	OMIM:604484
HP:0003677	Slowly progressive	80025	PANK2	OMIM:607236
HP:0003677	Slowly progressive	57104	PNPLA2	OMIM:610717
HP:0003677	Slowly progressive	2617	GARS1	OMIM:600794
HP:0003677	Slowly progressive	2617	GARS1	OMIM:601472
HP:0003677	Slowly progressive	3708	ITPR1	OMIM:606658
HP:0003677	Slowly progressive	26092	TOR1AIP1	OMIM:617072
HP:0003677	Slowly progressive	5354	PLP1	OMIM:312080
HP:0003677	Slowly progressive	339855	KY	OMIM:617114
HP:0003677	Slowly progressive	3300	DNAJB2	OMIM:614881
HP:0003677	Slowly progressive	56983	POGLUT1	OMIM:617232
HP:0003677	Slowly progressive	55149	MTPAP	OMIM:613672
HP:0003677	Slowly progressive	120892	LRRK2	OMIM:607060
HP:0003677	Slowly progressive	81545	FBXO38	OMIM:615575
HP:0003677	Slowly progressive	1073	CFL2	OMIM:610687
HP:0003677	Slowly progressive	200403	VWA3B	OMIM:616948
HP:0003677	Slowly progressive	3752	KCND3	OMIM:607346
HP:0003677	Slowly progressive	26580	BSCL2	OMIM:270685
HP:0003677	Slowly progressive	8139	GAN	OMIM:256850
HP:0003677	Slowly progressive	54463	RETREG1	OMIM:201300
HP:0003677	Slowly progressive	65125	WNK1	OMIM:201300
HP:0003677	Slowly progressive	6335	SCN9A	OMIM:201300
HP:0003677	Slowly progressive	59345	GNB4	OMIM:615185
HP:0003677	Slowly progressive	8913	CACNA1G	OMIM:616795
HP:0003677	Slowly progressive	25793	FBXO7	OMIM:260300
HP:0003677	Slowly progressive	4747	NEFL	OMIM:617882
HP:0003677	Slowly progressive	1291	COL6A1	OMIM:158810
HP:0003677	Slowly progressive	1292	COL6A2	OMIM:158810
HP:0003677	Slowly progressive	1293	COL6A3	OMIM:158810
HP:0003677	Slowly progressive	3508	IGHMBP2	OMIM:616155
HP:0003677	Slowly progressive	51776	MAP3K20	OMIM:617760
HP:0003677	Slowly progressive	10280	SIGMAR1	OMIM:614373
HP:0003677	Slowly progressive	57716	PRX	OMIM:614895
HP:0003677	Slowly progressive	1337	COX6A1	OMIM:616039
HP:0003677	Slowly progressive	51308	REEP2	OMIM:615625
HP:0003677	Slowly progressive	2196	FAT2	OMIM:617769
HP:0003677	Slowly progressive	367	AR	OMIM:313200
HP:0003677	Slowly progressive	339453	TMEM240	OMIM:607454
HP:0003677	Slowly progressive	8996	NOL3	OMIM:614937
HP:0003677	Slowly progressive	9987	HNRNPDL	OMIM:609115
HP:0003677	Slowly progressive	389827	MYMK	OMIM:254940
HP:0003677	Slowly progressive	6786	STIM1	OMIM:160565
HP:0003676	Progressive	51726	DNAJB11	OMIM:618061
HP:0003676	Progressive	773	CACNA1A	OMIM:183086
HP:0003676	Progressive	4287	ATXN3	OMIM:109150
HP:0003676	Progressive	1144	CHRND	OMIM:616321
HP:0003676	Progressive	5393	EXOSC9	OMIM:618065
HP:0003676	Progressive	7415	VCP	OMIM:616687
HP:0003676	Progressive	10059	DNM1L	OMIM:614388
HP:0003676	Progressive	400916	CHCHD10	OMIM:615911
HP:0003676	Progressive	5111	PCNA	OMIM:615919
HP:0003676	Progressive	79581	SLC52A2	OMIM:614707
HP:0003676	Progressive	8566	PDXK	OMIM:618511
HP:0003676	Progressive	65993	MRPS34	OMIM:617664
HP:0003676	Progressive	4141	MARS1	OMIM:615486
HP:0003676	Progressive	8792	TNFRSF11A	OMIM:174810
HP:0003676	Progressive	8792	TNFRSF11A	OMIM:602080
HP:0003676	Progressive	56616	DIABLO	OMIM:614152
HP:0003676	Progressive	5155	PDGFB	OMIM:615483
HP:0003676	Progressive	5155	PDGFB	OMIM:213600
HP:0003676	Progressive	8722	CTSF	OMIM:615362
HP:0003676	Progressive	7273	TTN	OMIM:608807
HP:0003676	Progressive	10528	NOP56	OMIM:614153
HP:0003676	Progressive	790	CAD	OMIM:616457
HP:0003676	Progressive	51112	TRAPPC12	OMIM:617669
HP:0003676	Progressive	8526	DGKE	OMIM:615008
HP:0003676	Progressive	57582	KCNT1	OMIM:614959
HP:0003676	Progressive	26580	BSCL2	OMIM:615924
HP:0003676	Progressive	51816	ADA2	OMIM:182410
HP:0003676	Progressive	2273	FHL1	OMIM:300696
HP:0003676	Progressive	4358	MPV17	OMIM:618400
HP:0003676	Progressive	4358	MPV17	OMIM:256810
HP:0003676	Progressive	7345	UCHL1	OMIM:615491
HP:0003676	Progressive	5832	ALDH18A1	OMIM:616586
HP:0003676	Progressive	64207	IRF2BPL	OMIM:618088
HP:0003676	Progressive	7084	TK2	OMIM:609560
HP:0003676	Progressive	8560	DEGS1	OMIM:618404
HP:0003676	Progressive	6575	SLC20A2	OMIM:213600
HP:0003676	Progressive	5159	PDGFRB	OMIM:213600
HP:0003676	Progressive	7276	TTR	OMIM:105210
HP:0003676	Progressive	10273	STUB1	OMIM:618093
HP:0003676	Progressive	10273	STUB1	OMIM:615768
HP:0003676	Progressive	215	ABCD1	OMIM:300100
HP:0003676	Progressive	10715	CERS1	OMIM:616230
HP:0003676	Progressive	84504	NKX6-2	OMIM:617560
HP:0003676	Progressive	83636	C19orf12	OMIM:614298
HP:0003676	Progressive	246243	RNASEH1	OMIM:616479
HP:0003676	Progressive	11232	POLG2	OMIM:610131
HP:0003676	Progressive	4338	MOCS2	OMIM:252160
HP:0003676	Progressive	11160	ERLIN2	OMIM:611225
HP:0003676	Progressive	2218	FKTN	OMIM:611588
HP:0003676	Progressive	6905	TBCE	OMIM:617207
HP:0003676	Progressive	10382	TUBB4A	OMIM:612438
HP:0003676	Progressive	9896	FIG4	OMIM:611228
HP:0003676	Progressive	144165	PRICKLE1	OMIM:612437
HP:0003676	Progressive	9907	AP5Z1	OMIM:613647
HP:0003676	Progressive	79152	FA2H	OMIM:612319
HP:0003676	Progressive	113278	SLC52A3	OMIM:211530
HP:0003676	Progressive	9711	RUBCN	OMIM:615705
HP:0003676	Progressive	6908	TBP	OMIM:607136
HP:0003676	Progressive	6908	TBP	OMIM:168600
HP:0003676	Progressive	54345	SOX18	OMIM:137940
HP:0003676	Progressive	9897	WASHC5	OMIM:603563
HP:0003676	Progressive	2512	FTL	OMIM:606159
HP:0003676	Progressive	5311	PKD2	OMIM:613095
HP:0003676	Progressive	84879	MFSD2A	OMIM:616486
HP:0003676	Progressive	8879	SGPL1	OMIM:617575
HP:0003676	Progressive	11277	TREX1	OMIM:192315
HP:0003676	Progressive	23259	DDHD2	OMIM:615033
HP:0003676	Progressive	9255	AIMP1	OMIM:260600
HP:0003676	Progressive	4744	NEFH	OMIM:616924
HP:0003676	Progressive	8021	NUP214	OMIM:618426
HP:0003676	Progressive	90624	LYRM7	OMIM:615838
HP:0003676	Progressive	9990	SLC12A6	OMIM:620068
HP:0003676	Progressive	9990	SLC12A6	OMIM:218000
HP:0003676	Progressive	64837	KLC2	OMIM:609541
HP:0003676	Progressive	6606	SMN1	OMIM:253400
HP:0003676	Progressive	6607	SMN2	OMIM:253400
HP:0003676	Progressive	10908	PNPLA6	OMIM:215470
HP:0003676	Progressive	23503	ZFYVE26	OMIM:270700
HP:0003676	Progressive	6305	SBF1	OMIM:615284
HP:0003676	Progressive	1615	DARS1	OMIM:615281
HP:0003676	Progressive	4669	NAGLU	OMIM:616491
HP:0003676	Progressive	122961	ISCA2	OMIM:616370
HP:0003676	Progressive	5428	POLG	OMIM:613662
HP:0003676	Progressive	5428	POLG	OMIM:157640
HP:0003676	Progressive	5428	POLG	OMIM:603041
HP:0003676	Progressive	9409	PEX16	OMIM:614877
HP:0003676	Progressive	9440	MED17	OMIM:613668
HP:0003676	Progressive	25828	TXN2	OMIM:616811
HP:0003676	Progressive	57462	MYORG	OMIM:618317
HP:0003676	Progressive	10253	SPRY2	OMIM:616818
HP:0003676	Progressive	7443	VRK1	OMIM:607596
HP:0003676	Progressive	8106	PABPN1	OMIM:164300
HP:0003676	Progressive	56652	TWNK	OMIM:271245
HP:0003676	Progressive	56652	TWNK	OMIM:609286
HP:0003676	Progressive	10280	SIGMAR1	OMIM:605726
HP:0003676	Progressive	1690	COCH	OMIM:601369
HP:0003676	Progressive	7369	UMOD	OMIM:162000
HP:0003676	Progressive	8813	DPM1	OMIM:608799
HP:0003676	Progressive	51651	PTRH2	OMIM:616263
HP:0003676	Progressive	5604	MAP2K1	OMIM:155950
HP:0003676	Progressive	22906	TRAK1	OMIM:618201
HP:0003676	Progressive	57679	ALS2	OMIM:205100
HP:0003676	Progressive	57679	ALS2	OMIM:607225
HP:0003676	Progressive	125988	MICOS13	OMIM:618329
HP:0003676	Progressive	3329	HSPD1	OMIM:605280
HP:0003676	Progressive	55275	VPS53	OMIM:615851
HP:0003676	Progressive	10133	OPTN	OMIM:613435
HP:0003676	Progressive	6683	SPAST	OMIM:182601
HP:0003676	Progressive	1384	CRAT	OMIM:617917
HP:0003676	Progressive	57704	GBA2	OMIM:614409
HP:0003676	Progressive	91574	MTRFR	OMIM:613559
HP:0003676	Progressive	55679	LIMS2	OMIM:616827
HP:0003676	Progressive	85021	REPS1	OMIM:617916
HP:0003676	Progressive	51196	PLCE1	OMIM:610725
HP:0003676	Progressive	3098	HK1	OMIM:605285
HP:0003676	Progressive	81570	CLPB	OMIM:616271
HP:0003676	Progressive	58497	PRUNE1	OMIM:617481
HP:0003676	Progressive	5825	ABCD3	OMIM:616278
HP:0003676	Progressive	79734	KCTD17	OMIM:616398
HP:0003676	Progressive	51067	YARS2	OMIM:613561
HP:0003676	Progressive	3658	IREB2	OMIM:618451
HP:0003676	Progressive	51693	TRAPPC2L	OMIM:618331
HP:0003676	Progressive	9276	COPB2	OMIM:617800
HP:0003676	Progressive	2583	B4GALNT1	OMIM:609195
HP:0003676	Progressive	7407	VARS1	OMIM:617802
HP:0003676	Progressive	4000	LMNA	OMIM:613205
HP:0003676	Progressive	4000	LMNA	OMIM:616516
HP:0003676	Progressive	23064	SETX	OMIM:606002
HP:0003676	Progressive	3798	KIF5A	OMIM:604187
HP:0003676	Progressive	4976	OPA1	OMIM:210000
HP:0003676	Progressive	4976	OPA1	OMIM:125250
HP:0003676	Progressive	55703	POLR3B	OMIM:607694
HP:0003676	Progressive	11128	POLR3A	OMIM:607694
HP:0003676	Progressive	8518	ELP1	OMIM:223900
HP:0003676	Progressive	3912	LAMB1	OMIM:615191
HP:0003676	Progressive	84706	GPT2	OMIM:616281
HP:0003676	Progressive	1291	COL6A1	OMIM:254090
HP:0003676	Progressive	1292	COL6A2	OMIM:254090
HP:0003676	Progressive	1292	COL6A2	OMIM:255600
HP:0003676	Progressive	1293	COL6A3	OMIM:254090
HP:0003676	Progressive	374291	NDUFS7	OMIM:618224
HP:0003676	Progressive	23516	SLC39A14	OMIM:617013
HP:0003676	Progressive	79876	UBA5	OMIM:617133
HP:0003676	Progressive	9698	PUM1	OMIM:617931
HP:0003676	Progressive	10309	CCNO	OMIM:615872
HP:0003676	Progressive	132	ADK	OMIM:614300
HP:0003676	Progressive	54832	VPS13C	OMIM:616840
HP:0003676	Progressive	9414	TJP2	OMIM:615878
HP:0003676	Progressive	4719	NDUFS1	OMIM:618226
HP:0003676	Progressive	2778	GNAS	OMIM:166350
HP:0003676	Progressive	57122	NUP107	OMIM:618348
HP:0003676	Progressive	57122	NUP107	OMIM:616730
HP:0003676	Progressive	4001	LMNB1	OMIM:169500
HP:0003676	Progressive	27235	COQ2	OMIM:146500
HP:0003676	Progressive	6442	SGCA	OMIM:608099
HP:0003676	Progressive	123606	NIPA1	OMIM:600363
HP:0003676	Progressive	6548	SLC9A1	OMIM:616291
HP:0003676	Progressive	57465	TBC1D24	OMIM:220500
HP:0003676	Progressive	57465	TBC1D24	OMIM:615338
HP:0003676	Progressive	91942	NDUFAF2	OMIM:618233
HP:0003676	Progressive	1436	CSF1R	OMIM:618476
HP:0003676	Progressive	3714	JAG2	OMIM:619566
HP:0003676	Progressive	92667	MGME1	OMIM:615084
HP:0003676	Progressive	5859	QARS1	OMIM:615760
HP:0003676	Progressive	63895	PIEZO2	OMIM:617146
HP:0003676	Progressive	8878	SQSTM1	OMIM:617145
HP:0003676	Progressive	8878	SQSTM1	OMIM:616437
HP:0003676	Progressive	80347	COASY	OMIM:615643
HP:0003676	Progressive	57505	AARS2	OMIM:615889
HP:0003676	Progressive	1287	COL4A5	OMIM:301050
HP:0003676	Progressive	79977	GRHL2	OMIM:608641
HP:0003676	Progressive	154881	KCTD7	OMIM:611726
HP:0003676	Progressive	23218	NBEAL2	OMIM:139090
HP:0003676	Progressive	427	ASAH1	OMIM:159950
HP:0003676	Progressive	427	ASAH1	OMIM:228000
HP:0003676	Progressive	23005	MAPKBP1	OMIM:617271
HP:0003676	Progressive	55250	ELP2	OMIM:617270
HP:0003676	Progressive	55967	NDUFA12	OMIM:618244
HP:0003676	Progressive	25929	GEMIN5	OMIM:619333
HP:0003676	Progressive	4715	NDUFB9	OMIM:618245
HP:0003676	Progressive	51473	DCDC2	OMIM:617394
HP:0003676	Progressive	727676	SNORD118	OMIM:614561
HP:0003676	Progressive	8867	SYNJ1	OMIM:615530
HP:0003676	Progressive	29978	UBQLN2	OMIM:300857
HP:0003676	Progressive	23345	SYNE1	OMIM:618484
HP:0003676	Progressive	7019	TFAM	OMIM:617156
HP:0003676	Progressive	3746	KCNC1	OMIM:616187
HP:0003676	Progressive	9512	PMPCB	OMIM:617954
HP:0003676	Progressive	2058	EPRS1	OMIM:617951
HP:0003676	Progressive	10616	RBCK1	OMIM:615895
HP:0003676	Progressive	291	SLC25A4	OMIM:609283
HP:0003676	Progressive	7965	AIMP2	OMIM:618006
HP:0003676	Progressive	54463	RETREG1	OMIM:613115
HP:0003676	Progressive	7490	WT1	OMIM:256370
HP:0003676	Progressive	259232	NALCN	OMIM:615419
HP:0003676	Progressive	4361	MRE11	OMIM:604391
HP:0003676	Progressive	9132	KCNQ4	OMIM:600101
HP:0003676	Progressive	4982	TNFRSF11B	OMIM:239000
HP:0003676	Progressive	51102	MECR	OMIM:617282
HP:0003676	Progressive	9420	CYP7B1	OMIM:270800
HP:0003676	Progressive	9757	KMT2B	OMIM:617284
HP:0003676	Progressive	1814	DRD3	OMIM:190300
HP:0003676	Progressive	4507	MTAP	OMIM:112250
HP:0003676	Progressive	84896	ATAD1	OMIM:618011
HP:0003676	Progressive	547	KIF1A	OMIM:614213
HP:0003676	Progressive	547	KIF1A	OMIM:614255
HP:0003676	Progressive	64423	INF2	OMIM:614455
HP:0003676	Progressive	23065	EMC1	OMIM:616875
HP:0003676	Progressive	80736	SLC44A4	OMIM:617606
HP:0003676	Progressive	23312	DMXL2	OMIM:617605
HP:0003676	Progressive	55697	VAC14	OMIM:617054
HP:0003676	Progressive	56978	PRDM8	OMIM:616640
HP:0003676	Progressive	29927	SEC61A1	OMIM:617056
HP:0003676	Progressive	81689	ISCA1	OMIM:617613
HP:0003676	Progressive	1285	COL4A3	OMIM:203780
HP:0003676	Progressive	1285	COL4A3	OMIM:104200
HP:0003676	Progressive	1286	COL4A4	OMIM:203780
HP:0003676	Progressive	4337	MOCS1	OMIM:252150
HP:0003676	Progressive	6531	SLC6A3	OMIM:613135
HP:0003676	Progressive	3839	KPNA3	OMIM:620106
HP:0003676	Progressive	56270	WDR45B	OMIM:617977
HP:0003676	Progressive	1890	TYMP	OMIM:603041
HP:0003676	Progressive	122553	TRAPPC6B	OMIM:617862
HP:0003676	Progressive	7222	TRPC3	OMIM:616410
HP:0003676	Progressive	10613	ERLIN1	OMIM:615681
HP:0003676	Progressive	6253	RTN2	OMIM:604805
HP:0003676	Progressive	9688	NUP93	OMIM:616892
HP:0003676	Progressive	23230	VPS13A	OMIM:200150
HP:0003676	Progressive	23287	AGTPBP1	OMIM:618276
HP:0003676	Progressive	6786	STIM1	OMIM:185070
HP:0003676	Progressive	9213	XPR1	OMIM:616413
HP:0003676	Progressive	207	AKT1	OMIM:176920
HP:0003676	Progressive	1786	DNMT1	OMIM:614116
HP:0003676	Progressive	1786	DNMT1	OMIM:604121
HP:0003676	Progressive	57038	RARS2	OMIM:611523
HP:0003676	Progressive	2799	GNS	OMIM:252940
HP:0003676	Progressive	80208	SPG11	OMIM:604360
HP:0003676	Progressive	50964	SOST	OMIM:122860
HP:0003676	Progressive	51062	ATL1	OMIM:613708
HP:0003676	Progressive	3094	HINT1	OMIM:137200
HP:0003676	Progressive	79934	COQ8B	OMIM:615573
HP:0003676	Progressive	29920	PYCR2	OMIM:616420
HP:0003676	Progressive	440	ASNS	OMIM:615574
HP:0003676	Progressive	84823	LMNB2	OMIM:616540
HP:0003676	Progressive	9197	SLC33A1	OMIM:614482
HP:0003676	Progressive	200205	IBA57	OMIM:615330
HP:0003676	Progressive	8575	PRKRA	OMIM:612067
HP:0003676	Progressive	7515	XRCC1	OMIM:617633
HP:0003676	Progressive	10939	AFG3L2	OMIM:614487
HP:0003676	Progressive	55624	POMGNT1	OMIM:613157
HP:0003676	Progressive	23250	ATP11A	OMIM:619810
HP:0003676	Progressive	79784	MYH14	OMIM:614369
HP:0003676	Progressive	23533	PIK3R5	OMIM:615217
HP:0003676	Progressive	63916	ELMO2	OMIM:606893
HP:0003676	Progressive	84153	RNASEH2C	OMIM:610329
HP:0003676	Progressive	81494	CFHR5	OMIM:614809
HP:0003676	Progressive	8086	AAAS	OMIM:231550
HP:0003676	Progressive	4204	MECP2	OMIM:300260
HP:0003676	Progressive	23279	NUP160	OMIM:618178
HP:0003676	Progressive	84842	HPDL	OMIM:619026
HP:0003676	Progressive	84842	HPDL	OMIM:619027
HP:0003676	Progressive	56947	MFF	OMIM:617086
HP:0003676	Progressive	118429	ANTXR2	OMIM:228600
HP:0003676	Progressive	4093	SMAD9	OMIM:615342
HP:0003676	Progressive	55331	ACER3	OMIM:617762
HP:0003676	Progressive	79902	NUP85	OMIM:618176
HP:0003676	Progressive	4643	MYO1E	OMIM:614131
HP:0003676	Progressive	50484	RRM2B	OMIM:612075
HP:0003676	Progressive	55746	NUP133	OMIM:618177
HP:0003676	Progressive	80169	CTC1	OMIM:612199
HP:0003676	Progressive	51763	INPP5K	OMIM:617404
HP:0003676	Progressive	3777	KCNK3	OMIM:615344
HP:0003676	Progressive	9131	AIFM1	OMIM:300816
HP:0003676	Progressive	221927	BRAT1	OMIM:614498
HP:0003676	Progressive	29110	TBK1	OMIM:616439
HP:0003676	Progressive	10749	KIF1C	OMIM:611302
HP:0003676	Progressive	9570	GOSR2	OMIM:614018
HP:0003676	Progressive	2747	GLUD2	OMIM:168600
HP:0003676	Progressive	126	ADH1C	OMIM:168600
HP:0003676	Progressive	4137	MAPT	OMIM:168600
HP:0003676	Progressive	2629	GBA1	OMIM:168600
HP:0003676	Progressive	4929	NR4A2	OMIM:168600
HP:0003676	Progressive	4576	MT-TT	OMIM:168600
HP:0003676	Progressive	9627	SNCAIP	OMIM:168600
HP:0003676	Progressive	6311	ATXN2	OMIM:168600
HP:0003676	Progressive	6315	ATXN8OS	OMIM:168600
HP:0003676	Progressive	27445	PCLO	OMIM:608027
HP:0003676	Progressive	6622	SNCA	OMIM:168601
HP:0003676	Progressive	8398	PLA2G6	OMIM:610217
HP:0003676	Progressive	203859	ANO5	OMIM:611307
HP:0003676	Progressive	50640	PNPLA8	OMIM:251950
HP:0003676	Progressive	22909	FAN1	OMIM:614817
HP:0003678	Rapidly progressive	6622	SNCA	OMIM:605543
HP:0003678	Rapidly progressive	7827	NPHS2	OMIM:600995
HP:0003678	Rapidly progressive	5621	PRNP	OMIM:137440
HP:0003678	Rapidly progressive	5621	PRNP	OMIM:123400
HP:0003678	Rapidly progressive	1436	CSF1R	OMIM:221820
HP:0003678	Rapidly progressive	348	APOE	OMIM:607822
HP:0003678	Rapidly progressive	5663	PSEN1	OMIM:607822
HP:0003678	Rapidly progressive	11284	PNKP	OMIM:616267
HP:0003678	Rapidly progressive	23435	TARDBP	OMIM:612069
HP:0003678	Rapidly progressive	90624	LYRM7	OMIM:615838
HP:0003678	Rapidly progressive	6445	SGCG	OMIM:253700
HP:0003678	Rapidly progressive	2896	GRN	OMIM:614706
HP:0003678	Rapidly progressive	5428	POLG	OMIM:203700
HP:0003678	Rapidly progressive	203228	C9orf72	OMIM:105550
HP:0003678	Rapidly progressive	80025	PANK2	OMIM:234200
HP:0003678	Rapidly progressive	3119	HLA-DQB1	OMIM:123400
HP:0003678	Rapidly progressive	23400	ATP13A2	OMIM:606693
HP:0003678	Rapidly progressive	8291	DYSF	OMIM:606768
HP:0003678	Rapidly progressive	80331	DNAJC5	OMIM:162350
HP:0003678	Rapidly progressive	128240	NAXE	OMIM:617186
HP:0003678	Rapidly progressive	396	ARHGDIA	OMIM:615244
HP:0003678	Rapidly progressive	51004	COQ6	OMIM:614650
HP:0003678	Rapidly progressive	5192	PEX10	OMIM:614870
HP:0003678	Rapidly progressive	2273	FHL1	OMIM:300718
HP:0003678	Rapidly progressive	2273	FHL1	OMIM:300717
HP:0003678	Rapidly progressive	7957	EPM2A	OMIM:254780
HP:0003678	Rapidly progressive	378884	NHLRC1	OMIM:254780
HP:0003678	Rapidly progressive	57449	PLEKHG5	OMIM:611067
HP:0003678	Rapidly progressive	9971	NR1H4	OMIM:617049
HP:0003678	Rapidly progressive	5339	PLEC	OMIM:613723
HP:0003678	Rapidly progressive	8398	PLA2G6	OMIM:612953
HP:0003678	Rapidly progressive	256471	MFSD8	OMIM:610951
HP:0003678	Rapidly progressive	950	SCARB2	OMIM:254900
HP:0003678	Rapidly progressive	54332	GDAP1	OMIM:214400
HP:0003678	Rapidly progressive	9531	BAG3	OMIM:612954
HP:0003678	Rapidly progressive	9829	DNAJC6	OMIM:615528
HP:0003678	Rapidly progressive	1410	CRYAB	OMIM:613869
HP:0003678	Rapidly progressive	1639	DCTN1	OMIM:168605
HP:0003678	Rapidly progressive	4868	NPHS1	OMIM:256300
HP:0003679	Pace of progression	51726	DNAJB11	OMIM:618061
HP:0003679	Pace of progression	773	CACNA1A	OMIM:183086
HP:0003679	Pace of progression	4287	ATXN3	OMIM:109150
HP:0003679	Pace of progression	1144	CHRND	OMIM:616321
HP:0003679	Pace of progression	5393	EXOSC9	OMIM:618065
HP:0003679	Pace of progression	7415	VCP	OMIM:616687
HP:0003679	Pace of progression	10059	DNM1L	OMIM:614388
HP:0003679	Pace of progression	400916	CHCHD10	OMIM:615911
HP:0003679	Pace of progression	5111	PCNA	OMIM:615919
HP:0003679	Pace of progression	79581	SLC52A2	OMIM:614707
HP:0003679	Pace of progression	8566	PDXK	OMIM:618511
HP:0003679	Pace of progression	65993	MRPS34	OMIM:617664
HP:0003679	Pace of progression	4141	MARS1	OMIM:615486
HP:0003679	Pace of progression	8792	TNFRSF11A	OMIM:174810
HP:0003679	Pace of progression	8792	TNFRSF11A	OMIM:602080
HP:0003679	Pace of progression	56616	DIABLO	OMIM:614152
HP:0003679	Pace of progression	5155	PDGFB	OMIM:615483
HP:0003679	Pace of progression	5155	PDGFB	OMIM:213600
HP:0003679	Pace of progression	8722	CTSF	OMIM:615362
HP:0003679	Pace of progression	7273	TTN	OMIM:608807
HP:0003679	Pace of progression	10528	NOP56	OMIM:614153
HP:0003679	Pace of progression	790	CAD	OMIM:616457
HP:0003679	Pace of progression	51112	TRAPPC12	OMIM:617669
HP:0003679	Pace of progression	8526	DGKE	OMIM:615008
HP:0003679	Pace of progression	57582	KCNT1	OMIM:614959
HP:0003679	Pace of progression	26580	BSCL2	OMIM:615924
HP:0003679	Pace of progression	51816	ADA2	OMIM:182410
HP:0003679	Pace of progression	2273	FHL1	OMIM:300696
HP:0003679	Pace of progression	4358	MPV17	OMIM:618400
HP:0003679	Pace of progression	4358	MPV17	OMIM:256810
HP:0003679	Pace of progression	7345	UCHL1	OMIM:615491
HP:0003679	Pace of progression	5832	ALDH18A1	OMIM:616586
HP:0003679	Pace of progression	64207	IRF2BPL	OMIM:618088
HP:0003679	Pace of progression	7084	TK2	OMIM:609560
HP:0003679	Pace of progression	8560	DEGS1	OMIM:618404
HP:0003679	Pace of progression	6575	SLC20A2	OMIM:213600
HP:0003679	Pace of progression	5159	PDGFRB	OMIM:213600
HP:0003679	Pace of progression	7276	TTR	OMIM:105210
HP:0003679	Pace of progression	10273	STUB1	OMIM:618093
HP:0003679	Pace of progression	10273	STUB1	OMIM:615768
HP:0003679	Pace of progression	215	ABCD1	OMIM:300100
HP:0003679	Pace of progression	10715	CERS1	OMIM:616230
HP:0003679	Pace of progression	84504	NKX6-2	OMIM:617560
HP:0003679	Pace of progression	83636	C19orf12	OMIM:614298
HP:0003679	Pace of progression	246243	RNASEH1	OMIM:616479
HP:0003679	Pace of progression	11232	POLG2	OMIM:610131
HP:0003679	Pace of progression	4338	MOCS2	OMIM:252160
HP:0003679	Pace of progression	11160	ERLIN2	OMIM:611225
HP:0003679	Pace of progression	2218	FKTN	OMIM:611588
HP:0003679	Pace of progression	6905	TBCE	OMIM:617207
HP:0003679	Pace of progression	10382	TUBB4A	OMIM:612438
HP:0003679	Pace of progression	9896	FIG4	OMIM:611228
HP:0003679	Pace of progression	144165	PRICKLE1	OMIM:612437
HP:0003679	Pace of progression	9907	AP5Z1	OMIM:613647
HP:0003679	Pace of progression	79152	FA2H	OMIM:612319
HP:0003679	Pace of progression	113278	SLC52A3	OMIM:211530
HP:0003679	Pace of progression	9711	RUBCN	OMIM:615705
HP:0003679	Pace of progression	6908	TBP	OMIM:607136
HP:0003679	Pace of progression	6908	TBP	OMIM:168600
HP:0003679	Pace of progression	54345	SOX18	OMIM:137940
HP:0003679	Pace of progression	9897	WASHC5	OMIM:603563
HP:0003679	Pace of progression	2512	FTL	OMIM:606159
HP:0003679	Pace of progression	5311	PKD2	OMIM:613095
HP:0003679	Pace of progression	84879	MFSD2A	OMIM:616486
HP:0003679	Pace of progression	8879	SGPL1	OMIM:617575
HP:0003679	Pace of progression	11277	TREX1	OMIM:192315
HP:0003679	Pace of progression	23259	DDHD2	OMIM:615033
HP:0003679	Pace of progression	9255	AIMP1	OMIM:260600
HP:0003679	Pace of progression	4744	NEFH	OMIM:616924
HP:0003679	Pace of progression	8021	NUP214	OMIM:618426
HP:0003679	Pace of progression	90624	LYRM7	OMIM:615838
HP:0003679	Pace of progression	9990	SLC12A6	OMIM:620068
HP:0003679	Pace of progression	9990	SLC12A6	OMIM:218000
HP:0003679	Pace of progression	64837	KLC2	OMIM:609541
HP:0003679	Pace of progression	6606	SMN1	OMIM:253400
HP:0003679	Pace of progression	6607	SMN2	OMIM:253400
HP:0003679	Pace of progression	10908	PNPLA6	OMIM:215470
HP:0003679	Pace of progression	23503	ZFYVE26	OMIM:270700
HP:0003679	Pace of progression	6305	SBF1	OMIM:615284
HP:0003679	Pace of progression	1615	DARS1	OMIM:615281
HP:0003679	Pace of progression	4669	NAGLU	OMIM:616491
HP:0003679	Pace of progression	122961	ISCA2	OMIM:616370
HP:0003679	Pace of progression	5428	POLG	OMIM:613662
HP:0003679	Pace of progression	5428	POLG	OMIM:157640
HP:0003679	Pace of progression	5428	POLG	OMIM:603041
HP:0003679	Pace of progression	9409	PEX16	OMIM:614877
HP:0003679	Pace of progression	9440	MED17	OMIM:613668
HP:0003679	Pace of progression	25828	TXN2	OMIM:616811
HP:0003679	Pace of progression	57462	MYORG	OMIM:618317
HP:0003679	Pace of progression	10253	SPRY2	OMIM:616818
HP:0003679	Pace of progression	7443	VRK1	OMIM:607596
HP:0003679	Pace of progression	8106	PABPN1	OMIM:164300
HP:0003679	Pace of progression	56652	TWNK	OMIM:271245
HP:0003679	Pace of progression	56652	TWNK	OMIM:609286
HP:0003679	Pace of progression	10280	SIGMAR1	OMIM:605726
HP:0003679	Pace of progression	1690	COCH	OMIM:601369
HP:0003679	Pace of progression	7369	UMOD	OMIM:162000
HP:0003679	Pace of progression	8813	DPM1	OMIM:608799
HP:0003679	Pace of progression	51651	PTRH2	OMIM:616263
HP:0003679	Pace of progression	5604	MAP2K1	OMIM:155950
HP:0003679	Pace of progression	22906	TRAK1	OMIM:618201
HP:0003679	Pace of progression	57679	ALS2	OMIM:205100
HP:0003679	Pace of progression	57679	ALS2	OMIM:607225
HP:0003679	Pace of progression	125988	MICOS13	OMIM:618329
HP:0003679	Pace of progression	3329	HSPD1	OMIM:605280
HP:0003679	Pace of progression	55275	VPS53	OMIM:615851
HP:0003679	Pace of progression	10133	OPTN	OMIM:613435
HP:0003679	Pace of progression	6683	SPAST	OMIM:182601
HP:0003679	Pace of progression	1384	CRAT	OMIM:617917
HP:0003679	Pace of progression	57704	GBA2	OMIM:614409
HP:0003679	Pace of progression	91574	MTRFR	OMIM:613559
HP:0003679	Pace of progression	55679	LIMS2	OMIM:616827
HP:0003679	Pace of progression	85021	REPS1	OMIM:617916
HP:0003679	Pace of progression	51196	PLCE1	OMIM:610725
HP:0003679	Pace of progression	3098	HK1	OMIM:605285
HP:0003679	Pace of progression	81570	CLPB	OMIM:616271
HP:0003679	Pace of progression	58497	PRUNE1	OMIM:617481
HP:0003679	Pace of progression	5825	ABCD3	OMIM:616278
HP:0003679	Pace of progression	79734	KCTD17	OMIM:616398
HP:0003679	Pace of progression	51067	YARS2	OMIM:613561
HP:0003679	Pace of progression	3658	IREB2	OMIM:618451
HP:0003679	Pace of progression	51693	TRAPPC2L	OMIM:618331
HP:0003679	Pace of progression	9276	COPB2	OMIM:617800
HP:0003679	Pace of progression	2583	B4GALNT1	OMIM:609195
HP:0003679	Pace of progression	7407	VARS1	OMIM:617802
HP:0003679	Pace of progression	4000	LMNA	OMIM:613205
HP:0003679	Pace of progression	4000	LMNA	OMIM:616516
HP:0003679	Pace of progression	23064	SETX	OMIM:606002
HP:0003679	Pace of progression	3798	KIF5A	OMIM:604187
HP:0003679	Pace of progression	4976	OPA1	OMIM:210000
HP:0003679	Pace of progression	4976	OPA1	OMIM:125250
HP:0003679	Pace of progression	55703	POLR3B	OMIM:607694
HP:0003679	Pace of progression	11128	POLR3A	OMIM:607694
HP:0003679	Pace of progression	8518	ELP1	OMIM:223900
HP:0003679	Pace of progression	3912	LAMB1	OMIM:615191
HP:0003679	Pace of progression	84706	GPT2	OMIM:616281
HP:0003679	Pace of progression	1291	COL6A1	OMIM:254090
HP:0003679	Pace of progression	1292	COL6A2	OMIM:254090
HP:0003679	Pace of progression	1292	COL6A2	OMIM:255600
HP:0003679	Pace of progression	1293	COL6A3	OMIM:254090
HP:0003679	Pace of progression	374291	NDUFS7	OMIM:618224
HP:0003679	Pace of progression	23516	SLC39A14	OMIM:617013
HP:0003679	Pace of progression	79876	UBA5	OMIM:617133
HP:0003679	Pace of progression	9698	PUM1	OMIM:617931
HP:0003679	Pace of progression	10309	CCNO	OMIM:615872
HP:0003679	Pace of progression	132	ADK	OMIM:614300
HP:0003679	Pace of progression	54832	VPS13C	OMIM:616840
HP:0003679	Pace of progression	9414	TJP2	OMIM:615878
HP:0003679	Pace of progression	4719	NDUFS1	OMIM:618226
HP:0003679	Pace of progression	2778	GNAS	OMIM:166350
HP:0003679	Pace of progression	57122	NUP107	OMIM:618348
HP:0003679	Pace of progression	57122	NUP107	OMIM:616730
HP:0003679	Pace of progression	4001	LMNB1	OMIM:169500
HP:0003679	Pace of progression	27235	COQ2	OMIM:146500
HP:0003679	Pace of progression	6442	SGCA	OMIM:608099
HP:0003679	Pace of progression	123606	NIPA1	OMIM:600363
HP:0003679	Pace of progression	6548	SLC9A1	OMIM:616291
HP:0003679	Pace of progression	57465	TBC1D24	OMIM:220500
HP:0003679	Pace of progression	57465	TBC1D24	OMIM:615338
HP:0003679	Pace of progression	91942	NDUFAF2	OMIM:618233
HP:0003679	Pace of progression	1436	CSF1R	OMIM:618476
HP:0003679	Pace of progression	3714	JAG2	OMIM:619566
HP:0003679	Pace of progression	92667	MGME1	OMIM:615084
HP:0003679	Pace of progression	5859	QARS1	OMIM:615760
HP:0003679	Pace of progression	63895	PIEZO2	OMIM:617146
HP:0003679	Pace of progression	8878	SQSTM1	OMIM:617145
HP:0003679	Pace of progression	8878	SQSTM1	OMIM:616437
HP:0003679	Pace of progression	80347	COASY	OMIM:615643
HP:0003679	Pace of progression	57505	AARS2	OMIM:615889
HP:0003679	Pace of progression	1287	COL4A5	OMIM:301050
HP:0003679	Pace of progression	79977	GRHL2	OMIM:608641
HP:0003679	Pace of progression	154881	KCTD7	OMIM:611726
HP:0003679	Pace of progression	23218	NBEAL2	OMIM:139090
HP:0003679	Pace of progression	427	ASAH1	OMIM:159950
HP:0003679	Pace of progression	427	ASAH1	OMIM:228000
HP:0003679	Pace of progression	23005	MAPKBP1	OMIM:617271
HP:0003679	Pace of progression	55250	ELP2	OMIM:617270
HP:0003679	Pace of progression	55967	NDUFA12	OMIM:618244
HP:0003679	Pace of progression	25929	GEMIN5	OMIM:619333
HP:0003679	Pace of progression	4715	NDUFB9	OMIM:618245
HP:0003679	Pace of progression	51473	DCDC2	OMIM:617394
HP:0003679	Pace of progression	727676	SNORD118	OMIM:614561
HP:0003679	Pace of progression	8867	SYNJ1	OMIM:615530
HP:0003679	Pace of progression	29978	UBQLN2	OMIM:300857
HP:0003679	Pace of progression	23345	SYNE1	OMIM:618484
HP:0003679	Pace of progression	7019	TFAM	OMIM:617156
HP:0003679	Pace of progression	3746	KCNC1	OMIM:616187
HP:0003679	Pace of progression	9512	PMPCB	OMIM:617954
HP:0003679	Pace of progression	2058	EPRS1	OMIM:617951
HP:0003679	Pace of progression	10616	RBCK1	OMIM:615895
HP:0003679	Pace of progression	291	SLC25A4	OMIM:609283
HP:0003679	Pace of progression	7965	AIMP2	OMIM:618006
HP:0003679	Pace of progression	54463	RETREG1	OMIM:613115
HP:0003679	Pace of progression	7490	WT1	OMIM:256370
HP:0003679	Pace of progression	259232	NALCN	OMIM:615419
HP:0003679	Pace of progression	4361	MRE11	OMIM:604391
HP:0003679	Pace of progression	9132	KCNQ4	OMIM:600101
HP:0003679	Pace of progression	4982	TNFRSF11B	OMIM:239000
HP:0003679	Pace of progression	51102	MECR	OMIM:617282
HP:0003679	Pace of progression	9420	CYP7B1	OMIM:270800
HP:0003679	Pace of progression	9757	KMT2B	OMIM:617284
HP:0003679	Pace of progression	1814	DRD3	OMIM:190300
HP:0003679	Pace of progression	4507	MTAP	OMIM:112250
HP:0003679	Pace of progression	84896	ATAD1	OMIM:618011
HP:0003679	Pace of progression	547	KIF1A	OMIM:614213
HP:0003679	Pace of progression	547	KIF1A	OMIM:614255
HP:0003679	Pace of progression	64423	INF2	OMIM:614455
HP:0003679	Pace of progression	23065	EMC1	OMIM:616875
HP:0003679	Pace of progression	80736	SLC44A4	OMIM:617606
HP:0003679	Pace of progression	23312	DMXL2	OMIM:617605
HP:0003679	Pace of progression	55697	VAC14	OMIM:617054
HP:0003679	Pace of progression	56978	PRDM8	OMIM:616640
HP:0003679	Pace of progression	29927	SEC61A1	OMIM:617056
HP:0003679	Pace of progression	81689	ISCA1	OMIM:617613
HP:0003679	Pace of progression	1285	COL4A3	OMIM:203780
HP:0003679	Pace of progression	1285	COL4A3	OMIM:104200
HP:0003679	Pace of progression	1286	COL4A4	OMIM:203780
HP:0003679	Pace of progression	4337	MOCS1	OMIM:252150
HP:0003679	Pace of progression	6531	SLC6A3	OMIM:613135
HP:0003679	Pace of progression	3839	KPNA3	OMIM:620106
HP:0003679	Pace of progression	56270	WDR45B	OMIM:617977
HP:0003679	Pace of progression	1890	TYMP	OMIM:603041
HP:0003679	Pace of progression	122553	TRAPPC6B	OMIM:617862
HP:0003679	Pace of progression	7222	TRPC3	OMIM:616410
HP:0003679	Pace of progression	10613	ERLIN1	OMIM:615681
HP:0003679	Pace of progression	6253	RTN2	OMIM:604805
HP:0003679	Pace of progression	9688	NUP93	OMIM:616892
HP:0003679	Pace of progression	23230	VPS13A	OMIM:200150
HP:0003679	Pace of progression	23287	AGTPBP1	OMIM:618276
HP:0003679	Pace of progression	6786	STIM1	OMIM:185070
HP:0003679	Pace of progression	9213	XPR1	OMIM:616413
HP:0003679	Pace of progression	207	AKT1	OMIM:176920
HP:0003679	Pace of progression	1786	DNMT1	OMIM:614116
HP:0003679	Pace of progression	1786	DNMT1	OMIM:604121
HP:0003679	Pace of progression	57038	RARS2	OMIM:611523
HP:0003679	Pace of progression	2799	GNS	OMIM:252940
HP:0003679	Pace of progression	80208	SPG11	OMIM:604360
HP:0003679	Pace of progression	50964	SOST	OMIM:122860
HP:0003679	Pace of progression	51062	ATL1	OMIM:613708
HP:0003679	Pace of progression	3094	HINT1	OMIM:137200
HP:0003679	Pace of progression	79934	COQ8B	OMIM:615573
HP:0003679	Pace of progression	29920	PYCR2	OMIM:616420
HP:0003679	Pace of progression	440	ASNS	OMIM:615574
HP:0003679	Pace of progression	84823	LMNB2	OMIM:616540
HP:0003679	Pace of progression	9197	SLC33A1	OMIM:614482
HP:0003679	Pace of progression	200205	IBA57	OMIM:615330
HP:0003679	Pace of progression	8575	PRKRA	OMIM:612067
HP:0003679	Pace of progression	7515	XRCC1	OMIM:617633
HP:0003679	Pace of progression	10939	AFG3L2	OMIM:614487
HP:0003679	Pace of progression	55624	POMGNT1	OMIM:613157
HP:0003679	Pace of progression	23250	ATP11A	OMIM:619810
HP:0003679	Pace of progression	79784	MYH14	OMIM:614369
HP:0003679	Pace of progression	23533	PIK3R5	OMIM:615217
HP:0003679	Pace of progression	63916	ELMO2	OMIM:606893
HP:0003679	Pace of progression	84153	RNASEH2C	OMIM:610329
HP:0003679	Pace of progression	81494	CFHR5	OMIM:614809
HP:0003679	Pace of progression	8086	AAAS	OMIM:231550
HP:0003679	Pace of progression	4204	MECP2	OMIM:300260
HP:0003679	Pace of progression	23279	NUP160	OMIM:618178
HP:0003679	Pace of progression	84842	HPDL	OMIM:619026
HP:0003679	Pace of progression	84842	HPDL	OMIM:619027
HP:0003679	Pace of progression	56947	MFF	OMIM:617086
HP:0003679	Pace of progression	118429	ANTXR2	OMIM:228600
HP:0003679	Pace of progression	4093	SMAD9	OMIM:615342
HP:0003679	Pace of progression	55331	ACER3	OMIM:617762
HP:0003679	Pace of progression	79902	NUP85	OMIM:618176
HP:0003679	Pace of progression	4643	MYO1E	OMIM:614131
HP:0003679	Pace of progression	50484	RRM2B	OMIM:612075
HP:0003679	Pace of progression	55746	NUP133	OMIM:618177
HP:0003679	Pace of progression	80169	CTC1	OMIM:612199
HP:0003679	Pace of progression	51763	INPP5K	OMIM:617404
HP:0003679	Pace of progression	3777	KCNK3	OMIM:615344
HP:0003679	Pace of progression	9131	AIFM1	OMIM:300816
HP:0003679	Pace of progression	221927	BRAT1	OMIM:614498
HP:0003679	Pace of progression	29110	TBK1	OMIM:616439
HP:0003679	Pace of progression	10749	KIF1C	OMIM:611302
HP:0003679	Pace of progression	9570	GOSR2	OMIM:614018
HP:0003679	Pace of progression	2747	GLUD2	OMIM:168600
HP:0003679	Pace of progression	126	ADH1C	OMIM:168600
HP:0003679	Pace of progression	4137	MAPT	OMIM:168600
HP:0003679	Pace of progression	2629	GBA1	OMIM:168600
HP:0003679	Pace of progression	4929	NR4A2	OMIM:168600
HP:0003679	Pace of progression	4576	MT-TT	OMIM:168600
HP:0003679	Pace of progression	9627	SNCAIP	OMIM:168600
HP:0003679	Pace of progression	6311	ATXN2	OMIM:168600
HP:0003679	Pace of progression	6315	ATXN8OS	OMIM:168600
HP:0003679	Pace of progression	27445	PCLO	OMIM:608027
HP:0003679	Pace of progression	6622	SNCA	OMIM:168601
HP:0003679	Pace of progression	8398	PLA2G6	OMIM:610217
HP:0003679	Pace of progression	203859	ANO5	OMIM:611307
HP:0003679	Pace of progression	50640	PNPLA8	OMIM:251950
HP:0003679	Pace of progression	22909	FAN1	OMIM:614817
HP:0003679	Pace of progression	8322	FZD4	OMIM:133780
HP:0003679	Pace of progression	4041	LRP5	OMIM:133780
HP:0003679	Pace of progression	7072	TIA1	OMIM:604454
HP:0003679	Pace of progression	1410	CRYAB	OMIM:608810
HP:0003679	Pace of progression	23646	PLD3	OMIM:617770
HP:0003679	Pace of progression	4099	MAG	OMIM:616680
HP:0003679	Pace of progression	10159	ATP6AP2	OMIM:300911
HP:0003679	Pace of progression	8323	FZD6	OMIM:161050
HP:0003679	Pace of progression	126129	CPT1C	OMIM:616282
HP:0003679	Pace of progression	1778	DYNC1H1	OMIM:158600
HP:0003679	Pace of progression	1778	DYNC1H1	OMIM:614228
HP:0003679	Pace of progression	6834	SURF1	OMIM:616684
HP:0003679	Pace of progression	114548	NLRP3	OMIM:617772
HP:0003679	Pace of progression	79188	TMEM43	OMIM:614302
HP:0003679	Pace of progression	22880	MORC2	OMIM:616688
HP:0003679	Pace of progression	80821	DDHD1	OMIM:609340
HP:0003679	Pace of progression	4311	MME	OMIM:617018
HP:0003679	Pace of progression	4311	MME	OMIM:617017
HP:0003679	Pace of progression	79912	PYROXD1	OMIM:617258
HP:0003679	Pace of progression	4171	MCM2	OMIM:616968
HP:0003679	Pace of progression	5165	PDK3	OMIM:300905
HP:0003679	Pace of progression	203547	VMA21	OMIM:310440
HP:0003679	Pace of progression	8291	DYSF	OMIM:253601
HP:0003679	Pace of progression	7003	TEAD1	OMIM:108985
HP:0003679	Pace of progression	1184	CLCN5	OMIM:308990
HP:0003679	Pace of progression	4359	MPZ	OMIM:180800
HP:0003679	Pace of progression	4359	MPZ	OMIM:118200
HP:0003679	Pace of progression	5376	PMP22	OMIM:180800
HP:0003679	Pace of progression	5376	PMP22	OMIM:118220
HP:0003679	Pace of progression	10049	DNAJB6	OMIM:603511
HP:0003679	Pace of progression	1120	CHKB	OMIM:602541
HP:0003679	Pace of progression	3748	KCNC3	OMIM:605259
HP:0003679	Pace of progression	440193	CCDC88C	OMIM:616053
HP:0003679	Pace of progression	538	ATP7A	OMIM:300489
HP:0003679	Pace of progression	729920	CRPPA	OMIM:616052
HP:0003679	Pace of progression	58	ACTA1	OMIM:616852
HP:0003679	Pace of progression	84876	ORAI1	OMIM:615883
HP:0003679	Pace of progression	26011	TENM4	OMIM:616736
HP:0003679	Pace of progression	2911	GRM1	OMIM:614831
HP:0003679	Pace of progression	2911	GRM1	OMIM:617691
HP:0003679	Pace of progression	90678	LRSAM1	OMIM:614436
HP:0003679	Pace of progression	9829	DNAJC6	OMIM:615528
HP:0003679	Pace of progression	4625	MYH7	OMIM:160500
HP:0003679	Pace of progression	4625	MYH7	OMIM:255160
HP:0003679	Pace of progression	4625	MYH7	OMIM:608358
HP:0003679	Pace of progression	343641	TGM6	OMIM:613908
HP:0003679	Pace of progression	51324	SPG21	OMIM:248900
HP:0003679	Pace of progression	60482	SLC5A7	OMIM:158580
HP:0003679	Pace of progression	3315	HSPB1	OMIM:608634
HP:0003679	Pace of progression	2483	FRG1	OMIM:158900
HP:0003679	Pace of progression	8888	MCM3AP	OMIM:618124
HP:0003679	Pace of progression	122622	ADSS1	OMIM:617030
HP:0003679	Pace of progression	199857	ALG14	OMIM:616227
HP:0003679	Pace of progression	22954	TRIM32	OMIM:254110
HP:0003679	Pace of progression	8622	PDE8B	OMIM:609161
HP:0003679	Pace of progression	54834	GDAP2	OMIM:618369
HP:0003679	Pace of progression	5173	PDYN	OMIM:610245
HP:0003679	Pace of progression	2055	CLN8	OMIM:610003
HP:0003679	Pace of progression	51079	NDUFA13	OMIM:618249
HP:0003679	Pace of progression	85365	ALG2	OMIM:616228
HP:0003679	Pace of progression	2010	EMD	OMIM:310300
HP:0003679	Pace of progression	29967	LRP12	OMIM:164310
HP:0003679	Pace of progression	9499	MYOT	OMIM:609200
HP:0003679	Pace of progression	5582	PRKCG	OMIM:605361
HP:0003679	Pace of progression	2632	GBE1	OMIM:263570
HP:0003679	Pace of progression	11315	PARK7	OMIM:606324
HP:0003679	Pace of progression	6712	SPTBN2	OMIM:600224
HP:0003679	Pace of progression	6712	SPTBN2	OMIM:615386
HP:0003679	Pace of progression	2705	GJB1	OMIM:302800
HP:0003679	Pace of progression	10667	FARS2	OMIM:617046
HP:0003679	Pace of progression	2992	GYG1	OMIM:616199
HP:0003679	Pace of progression	390594	KBTBD13	OMIM:609273
HP:0003679	Pace of progression	7453	WARS1	OMIM:617721
HP:0003679	Pace of progression	26090	ABHD12	OMIM:612674
HP:0003679	Pace of progression	5981	RFC1	OMIM:614575
HP:0003679	Pace of progression	8635	RNASET2	OMIM:612951
HP:0003679	Pace of progression	3908	LAMA2	OMIM:618138
HP:0003679	Pace of progression	1600	DAB1	OMIM:615945
HP:0003679	Pace of progression	1200	TPP1	OMIM:609270
HP:0003679	Pace of progression	55157	DARS2	OMIM:611105
HP:0003679	Pace of progression	220296	HEPACAM	OMIM:613925
HP:0003679	Pace of progression	28982	FLVCR1	OMIM:609033
HP:0003679	Pace of progression	10568	SLC34A2	OMIM:265100
HP:0003679	Pace of progression	10585	POMT1	OMIM:609308
HP:0003679	Pace of progression	1938	EEF2	OMIM:609306
HP:0003679	Pace of progression	65260	COA7	OMIM:618387
HP:0003679	Pace of progression	65018	PINK1	OMIM:605909
HP:0003679	Pace of progression	10717	AP4B1	OMIM:614066
HP:0003679	Pace of progression	1763	DNA2	OMIM:615156
HP:0003679	Pace of progression	2318	FLNC	OMIM:614065
HP:0003679	Pace of progression	2318	FLNC	OMIM:609524
HP:0003679	Pace of progression	8988	HSPB3	OMIM:613376
HP:0003679	Pace of progression	55280	CWF19L1	OMIM:616127
HP:0003679	Pace of progression	9927	MFN2	OMIM:609260
HP:0003679	Pace of progression	84665	MYPN	OMIM:617336
HP:0003679	Pace of progression	199221	DZIP1L	OMIM:617610
HP:0003679	Pace of progression	255928	SYT14	OMIM:614229
HP:0003679	Pace of progression	5828	PEX2	OMIM:614867
HP:0003679	Pace of progression	1639	DCTN1	OMIM:607641
HP:0003679	Pace of progression	60481	ELOVL5	OMIM:615957
HP:0003679	Pace of progression	2335	FN1	OMIM:601894
HP:0003679	Pace of progression	81	ACTN4	OMIM:603278
HP:0003679	Pace of progression	3208	HPCA	OMIM:224500
HP:0003679	Pace of progression	1785	DNM2	OMIM:160150
HP:0003679	Pace of progression	64419	MTMR14	OMIM:160150
HP:0003679	Pace of progression	476	ATP1A1	OMIM:618036
HP:0003679	Pace of progression	5375	PMP2	OMIM:618279
HP:0003679	Pace of progression	23095	KIF1B	OMIM:118210
HP:0003679	Pace of progression	6261	RYR1	OMIM:117000
HP:0003679	Pace of progression	1798	DPAGT1	OMIM:614750
HP:0003679	Pace of progression	5192	PEX10	OMIM:614871
HP:0003679	Pace of progression	10342	TFG	OMIM:604484
HP:0003679	Pace of progression	80025	PANK2	OMIM:607236
HP:0003679	Pace of progression	57104	PNPLA2	OMIM:610717
HP:0003679	Pace of progression	2617	GARS1	OMIM:600794
HP:0003679	Pace of progression	2617	GARS1	OMIM:601472
HP:0003679	Pace of progression	3708	ITPR1	OMIM:606658
HP:0003679	Pace of progression	26092	TOR1AIP1	OMIM:617072
HP:0003679	Pace of progression	5354	PLP1	OMIM:312080
HP:0003679	Pace of progression	339855	KY	OMIM:617114
HP:0003679	Pace of progression	3300	DNAJB2	OMIM:614881
HP:0003679	Pace of progression	56983	POGLUT1	OMIM:617232
HP:0003679	Pace of progression	55149	MTPAP	OMIM:613672
HP:0003679	Pace of progression	120892	LRRK2	OMIM:607060
HP:0003679	Pace of progression	81545	FBXO38	OMIM:615575
HP:0003679	Pace of progression	1073	CFL2	OMIM:610687
HP:0003679	Pace of progression	200403	VWA3B	OMIM:616948
HP:0003679	Pace of progression	3752	KCND3	OMIM:607346
HP:0003679	Pace of progression	8139	GAN	OMIM:256850
HP:0003679	Pace of progression	65125	WNK1	OMIM:201300
HP:0003679	Pace of progression	6335	SCN9A	OMIM:201300
HP:0003679	Pace of progression	59345	GNB4	OMIM:615185
HP:0003679	Pace of progression	8913	CACNA1G	OMIM:616795
HP:0003679	Pace of progression	25793	FBXO7	OMIM:260300
HP:0003679	Pace of progression	4747	NEFL	OMIM:617882
HP:0003679	Pace of progression	3508	IGHMBP2	OMIM:616155
HP:0003679	Pace of progression	51776	MAP3K20	OMIM:617760
HP:0003679	Pace of progression	57716	PRX	OMIM:614895
HP:0003679	Pace of progression	1337	COX6A1	OMIM:616039
HP:0003679	Pace of progression	51308	REEP2	OMIM:615625
HP:0003679	Pace of progression	2196	FAT2	OMIM:617769
HP:0003679	Pace of progression	367	AR	OMIM:313200
HP:0003679	Pace of progression	339453	TMEM240	OMIM:607454
HP:0003679	Pace of progression	8996	NOL3	OMIM:614937
HP:0003679	Pace of progression	9987	HNRNPDL	OMIM:609115
HP:0003679	Pace of progression	389827	MYMK	OMIM:254940
HP:0003679	Pace of progression	7827	NPHS2	OMIM:600995
HP:0003679	Pace of progression	5621	PRNP	OMIM:137440
HP:0003679	Pace of progression	5621	PRNP	OMIM:123400
HP:0003679	Pace of progression	348	APOE	OMIM:607822
HP:0003679	Pace of progression	5663	PSEN1	OMIM:607822
HP:0003679	Pace of progression	11284	PNKP	OMIM:616267
HP:0003679	Pace of progression	23435	TARDBP	OMIM:612069
HP:0003679	Pace of progression	6445	SGCG	OMIM:253700
HP:0003679	Pace of progression	2896	GRN	OMIM:614706
HP:0003679	Pace of progression	203228	C9orf72	OMIM:105550
HP:0003679	Pace of progression	3119	HLA-DQB1	OMIM:123400
HP:0003679	Pace of progression	23400	ATP13A2	OMIM:606693
HP:0003679	Pace of progression	80331	DNAJC5	OMIM:162350
HP:0003679	Pace of progression	128240	NAXE	OMIM:617186
HP:0003679	Pace of progression	396	ARHGDIA	OMIM:615244
HP:0003679	Pace of progression	51004	COQ6	OMIM:614650
HP:0003679	Pace of progression	7957	EPM2A	OMIM:254780
HP:0003679	Pace of progression	378884	NHLRC1	OMIM:254780
HP:0003679	Pace of progression	57449	PLEKHG5	OMIM:611067
HP:0003679	Pace of progression	9971	NR1H4	OMIM:617049
HP:0003679	Pace of progression	5339	PLEC	OMIM:613723
HP:0003679	Pace of progression	256471	MFSD8	OMIM:610951
HP:0003679	Pace of progression	950	SCARB2	OMIM:254900
HP:0003679	Pace of progression	54332	GDAP1	OMIM:214400
HP:0003679	Pace of progression	9531	BAG3	OMIM:612954
HP:0003679	Pace of progression	4868	NPHS1	OMIM:256300
HP:0003679	Pace of progression	401474	SAMD12	OMIM:601068
HP:0003679	Pace of progression	59341	TRPV4	OMIM:600175
HP:0003679	Pace of progression	286676	ILDR1	OMIM:609646
HP:0003679	Pace of progression	2673	GFPT1	OMIM:608931
HP:0003679	Pace of progression	1145	CHRNE	OMIM:608931
HP:0003679	Pace of progression	6334	SCN8A	OMIM:618364
HP:0003679	Pace of progression	84617	TUBB6	OMIM:617732
HP:0003679	Pace of progression	7436	VLDLR	OMIM:224050
HP:0003679	Pace of progression	10846	PDE10A	OMIM:616922
HP:0003679	Pace of progression	3211	HOXB1	OMIM:614744
HP:0003679	Pace of progression	23203	PMPCA	OMIM:213200
HP:0003679	Pace of progression	492	ATP2B3	OMIM:302500
HP:0003679	Pace of progression	56910	STARD7	OMIM:607876
HP:0003679	Pace of progression	1822	ATN1	OMIM:618494
HP:0003679	Pace of progression	9474	ATG5	OMIM:617584
HP:0003679	Pace of progression	3859	KRT12	OMIM:122100
HP:0003679	Pace of progression	55689	YEATS2	OMIM:615127
HP:0003679	Pace of progression	23562	CLDN14	OMIM:614035
HP:0003679	Pace of progression	2259	FGF14	OMIM:193003
HP:0003679	Pace of progression	10299	MARCHF6	OMIM:613608
HP:0003680	Nonprogressive	401474	SAMD12	OMIM:601068
HP:0003680	Nonprogressive	59341	TRPV4	OMIM:600175
HP:0003680	Nonprogressive	286676	ILDR1	OMIM:609646
HP:0003680	Nonprogressive	2673	GFPT1	OMIM:608931
HP:0003680	Nonprogressive	1145	CHRNE	OMIM:608931
HP:0003680	Nonprogressive	6334	SCN8A	OMIM:618364
HP:0003680	Nonprogressive	84617	TUBB6	OMIM:617732
HP:0003680	Nonprogressive	7436	VLDLR	OMIM:224050
HP:0003680	Nonprogressive	10846	PDE10A	OMIM:616922
HP:0003680	Nonprogressive	3211	HOXB1	OMIM:614744
HP:0003680	Nonprogressive	23203	PMPCA	OMIM:213200
HP:0003680	Nonprogressive	492	ATP2B3	OMIM:302500
HP:0003680	Nonprogressive	56910	STARD7	OMIM:607876
HP:0003680	Nonprogressive	1822	ATN1	OMIM:618494
HP:0003680	Nonprogressive	9474	ATG5	OMIM:617584
HP:0003680	Nonprogressive	3859	KRT12	OMIM:122100
HP:0003680	Nonprogressive	55689	YEATS2	OMIM:615127
HP:0003680	Nonprogressive	23562	CLDN14	OMIM:614035
HP:0003680	Nonprogressive	2259	FGF14	OMIM:193003
HP:0003680	Nonprogressive	1286	COL4A4	OMIM:141200
HP:0003680	Nonprogressive	10299	MARCHF6	OMIM:613608
HP:0000444	Convex nasal ridge	7291	TWIST1	ORPHA:794
HP:0000444	Convex nasal ridge	7291	TWIST1	OMIM:101400
HP:0000444	Convex nasal ridge	2263	FGFR2	ORPHA:794
HP:0000444	Convex nasal ridge	2263	FGFR2	ORPHA:87
HP:0000444	Convex nasal ridge	2263	FGFR2	ORPHA:207
HP:0000444	Convex nasal ridge	2263	FGFR2	OMIM:101400
HP:0000444	Convex nasal ridge	2263	FGFR2	ORPHA:1540
HP:0000444	Convex nasal ridge	2261	FGFR3	ORPHA:794
HP:0000444	Convex nasal ridge	2261	FGFR3	ORPHA:93262
HP:0000444	Convex nasal ridge	4000	LMNA	OMIM:619793
HP:0000444	Convex nasal ridge	4000	LMNA	OMIM:248370
HP:0000444	Convex nasal ridge	4000	LMNA	ORPHA:79474
HP:0000444	Convex nasal ridge	4000	LMNA	ORPHA:740
HP:0000444	Convex nasal ridge	23314	SATB2	ORPHA:251028
HP:0000444	Convex nasal ridge	23314	SATB2	ORPHA:251019
HP:0000444	Convex nasal ridge	7518	XRCC4	ORPHA:99812
HP:0000444	Convex nasal ridge	7518	XRCC4	OMIM:616541
HP:0000444	Convex nasal ridge	3981	LIG4	ORPHA:99812
HP:0000444	Convex nasal ridge	538	ATP7A	OMIM:304150
HP:0000444	Convex nasal ridge	256297	PTF1A	OMIM:609069
HP:0000444	Convex nasal ridge	197131	UBR1	OMIM:243800
HP:0000444	Convex nasal ridge	91754	NEK9	OMIM:617022
HP:0000444	Convex nasal ridge	221496	LEMD2	OMIM:619322
HP:0000444	Convex nasal ridge	1387	CREBBP	ORPHA:353281
HP:0000444	Convex nasal ridge	1387	CREBBP	OMIM:180849
HP:0000444	Convex nasal ridge	1387	CREBBP	ORPHA:353277
HP:0000444	Convex nasal ridge	91179	SCARF2	OMIM:600920
HP:0000444	Convex nasal ridge	55790	CSGALNACT1	OMIM:618870
HP:0000444	Convex nasal ridge	8882	ZPR1	OMIM:619321
HP:0000444	Convex nasal ridge	23426	GRIP1	OMIM:617667
HP:0000444	Convex nasal ridge	6905	TBCE	ORPHA:2323
HP:0000444	Convex nasal ridge	6905	TBCE	OMIM:241410
HP:0000444	Convex nasal ridge	30008	EFEMP2	OMIM:614437
HP:0000444	Convex nasal ridge	2033	EP300	ORPHA:353284
HP:0000444	Convex nasal ridge	2033	EP300	OMIM:180849
HP:0000444	Convex nasal ridge	2033	EP300	OMIM:613684
HP:0000444	Convex nasal ridge	7486	WRN	OMIM:277700
HP:0000444	Convex nasal ridge	7486	WRN	ORPHA:902
HP:0000444	Convex nasal ridge	2068	ERCC2	OMIM:610756
HP:0000444	Convex nasal ridge	10269	ZMPSTE24	ORPHA:90154
HP:0000444	Convex nasal ridge	10269	ZMPSTE24	ORPHA:740
HP:0000444	Convex nasal ridge	10269	ZMPSTE24	OMIM:275210
HP:0000444	Convex nasal ridge	4038	LRP4	ORPHA:3258
HP:0000444	Convex nasal ridge	324	APC	ORPHA:3258
HP:0000444	Convex nasal ridge	79840	NHEJ1	ORPHA:169079
HP:0000444	Convex nasal ridge	1763	DNA2	OMIM:615807
HP:0000444	Convex nasal ridge	6023	RMRP	ORPHA:175
HP:0000444	Convex nasal ridge	51132	RLIM	OMIM:300978
HP:0000444	Convex nasal ridge	55870	ASH1L	OMIM:617796
HP:0000444	Convex nasal ridge	4052	LTBP1	OMIM:619451
HP:0000444	Convex nasal ridge	23511	NUP188	OMIM:618804
HP:0000444	Convex nasal ridge	545	ATR	OMIM:614564
HP:0000444	Convex nasal ridge	545	ATR	OMIM:210600
HP:0000444	Convex nasal ridge	545	ATR	ORPHA:808
HP:0000444	Convex nasal ridge	1277	COL1A1	OMIM:166210
HP:0000444	Convex nasal ridge	1278	COL1A2	OMIM:166210
HP:0000444	Convex nasal ridge	2077	ERF	ORPHA:207
HP:0000444	Convex nasal ridge	157680	VPS13B	OMIM:216550
HP:0000444	Convex nasal ridge	444	ASPH	OMIM:601552
HP:0000444	Convex nasal ridge	9839	ZEB2	ORPHA:261552
HP:0000444	Convex nasal ridge	9839	ZEB2	ORPHA:261537
HP:0000444	Convex nasal ridge	5424	POLD1	OMIM:615381
HP:0000444	Convex nasal ridge	79796	ALG9	OMIM:263210
HP:0000444	Convex nasal ridge	79796	ALG9	ORPHA:79328
HP:0000444	Convex nasal ridge	55012	PPP2R3C	OMIM:618419
HP:0000444	Convex nasal ridge	29980	DONSON	OMIM:617604
HP:0000444	Convex nasal ridge	29980	DONSON	OMIM:251230
HP:0000444	Convex nasal ridge	53834	FGFRL1	OMIM:194190
HP:0000444	Convex nasal ridge	1487	CTBP1	OMIM:194190
HP:0000444	Convex nasal ridge	3954	LETM1	OMIM:194190
HP:0000444	Convex nasal ridge	7468	NSD2	OMIM:194190
HP:0000444	Convex nasal ridge	10815	CPLX1	OMIM:194190
HP:0000444	Convex nasal ridge	4247	MGAT2	OMIM:212066
HP:0000444	Convex nasal ridge	4247	MGAT2	ORPHA:79329
HP:0000444	Convex nasal ridge	5977	DPF2	OMIM:618027
HP:0000444	Convex nasal ridge	3590	IL11RA	OMIM:614188
HP:0000444	Convex nasal ridge	29957	SLC25A24	OMIM:612289
HP:0000444	Convex nasal ridge	80152	CENPT	OMIM:618702
HP:0000444	Convex nasal ridge	2006	ELN	OMIM:123700
HP:0000444	Convex nasal ridge	11128	POLR3A	OMIM:264090
HP:0000444	Convex nasal ridge	11128	POLR3A	ORPHA:3455
HP:0000444	Convex nasal ridge	25839	COG4	OMIM:618150
HP:0000444	Convex nasal ridge	25839	COG4	ORPHA:85172
HP:0000444	Convex nasal ridge	5189	PEX1	OMIM:601539
HP:0000444	Convex nasal ridge	5159	PDGFRB	OMIM:601812
HP:0000444	Convex nasal ridge	83737	ITCH	OMIM:613385
HP:0000444	Convex nasal ridge	28952	CCDC22	OMIM:300963
HP:0000444	Convex nasal ridge	10293	TRAIP	OMIM:616777
HP:0000444	Convex nasal ridge	10293	TRAIP	ORPHA:808
HP:0000444	Convex nasal ridge	22995	CEP152	OMIM:613823
HP:0000444	Convex nasal ridge	22995	CEP152	ORPHA:808
HP:0000444	Convex nasal ridge	113246	C12orf57	OMIM:218340
HP:0000444	Convex nasal ridge	81031	SLC2A10	OMIM:208050
HP:0000444	Convex nasal ridge	9319	TRIP13	OMIM:617598
HP:0000444	Convex nasal ridge	51360	MBTPS2	ORPHA:85284
HP:0000444	Convex nasal ridge	8815	BANF1	OMIM:614008
HP:0000444	Convex nasal ridge	1062	CENPE	ORPHA:808
HP:0000444	Convex nasal ridge	5116	PCNT	ORPHA:808
HP:0000444	Convex nasal ridge	5932	RBBP8	ORPHA:808
HP:0000444	Convex nasal ridge	79902	NUP85	ORPHA:808
HP:0000444	Convex nasal ridge	84126	ATRIP	ORPHA:808
HP:0000444	Convex nasal ridge	55835	CENPJ	ORPHA:808
HP:0000444	Convex nasal ridge	10733	PLK4	ORPHA:808
HP:0000444	Convex nasal ridge	4683	NBN	ORPHA:647
HP:0000444	Convex nasal ridge	2072	ERCC4	OMIM:610965
HP:0000444	Convex nasal ridge	1513	CTSK	ORPHA:763
HP:0000444	Convex nasal ridge	5631	PRPS1	OMIM:300661
HP:0000444	Convex nasal ridge	860	RUNX2	OMIM:156510
HP:0000444	Convex nasal ridge	4212	MEIS2	ORPHA:261190
HP:0000444	Convex nasal ridge	10535	RNASEH2A	OMIM:610333
HP:0000444	Convex nasal ridge	10535	RNASEH2A	ORPHA:51
HP:0000444	Convex nasal ridge	84153	RNASEH2C	ORPHA:51
HP:0000444	Convex nasal ridge	25939	SAMHD1	ORPHA:51
HP:0000444	Convex nasal ridge	79621	RNASEH2B	ORPHA:51
HP:0000444	Convex nasal ridge	103	ADAR	ORPHA:51
HP:0000444	Convex nasal ridge	11277	TREX1	ORPHA:51
HP:0000444	Convex nasal ridge	100147744	RNU7-1	ORPHA:51
HP:0000444	Convex nasal ridge	134353	LSM11	ORPHA:51
HP:0000444	Convex nasal ridge	64135	IFIH1	ORPHA:51
HP:0000444	Convex nasal ridge	1281	COL3A1	ORPHA:2500
HP:0004406	Spontaneous, recurrent epistaxis	94	ACVRL1	OMIM:600376
HP:0004406	Spontaneous, recurrent epistaxis	2022	ENG	OMIM:187300
HP:0004406	Spontaneous, recurrent epistaxis	2811	GP1BA	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	2812	GP1BB	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	2815	GP9	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	84343	HPS3	OMIM:614072
HP:0004406	Spontaneous, recurrent epistaxis	2629	GBA1	ORPHA:2072
HP:0004406	Spontaneous, recurrent epistaxis	3674	ITGA2B	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	3690	ITGB3	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	4627	MYH9	ORPHA:182050
HP:0004406	Spontaneous, recurrent epistaxis	1130	LYST	OMIM:214500
HP:0004406	Spontaneous, recurrent epistaxis	6714	SRC	OMIM:616937
HP:0004406	Spontaneous, recurrent epistaxis	2658	GDF2	OMIM:615506
HP:0003687	Centrally nucleated skeletal muscle fibers	4534	MTM1	ORPHA:596
HP:0003687	Centrally nucleated skeletal muscle fibers	274	BIN1	ORPHA:169186
HP:0003687	Centrally nucleated skeletal muscle fibers	274	BIN1	ORPHA:169189
HP:0003687	Centrally nucleated skeletal muscle fibers	274	BIN1	OMIM:255200
HP:0003687	Centrally nucleated skeletal muscle fibers	10290	SPEG	ORPHA:169186
HP:0003687	Centrally nucleated skeletal muscle fibers	10290	SPEG	OMIM:615959
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	ORPHA:169186
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	ORPHA:169189
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	OMIM:117000
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	OMIM:255320
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	ORPHA:324581
HP:0003687	Centrally nucleated skeletal muscle fibers	6261	RYR1	OMIM:619542
HP:0003687	Centrally nucleated skeletal muscle fibers	7273	TTN	ORPHA:169186
HP:0003687	Centrally nucleated skeletal muscle fibers	7273	TTN	ORPHA:609
HP:0003687	Centrally nucleated skeletal muscle fibers	7273	TTN	OMIM:611705
HP:0003687	Centrally nucleated skeletal muscle fibers	64374	SIL1	OMIM:248800
HP:0003687	Centrally nucleated skeletal muscle fibers	4625	MYH7	ORPHA:437572
HP:0003687	Centrally nucleated skeletal muscle fibers	4625	MYH7	OMIM:255160
HP:0003687	Centrally nucleated skeletal muscle fibers	4625	MYH7	OMIM:608358
HP:0003687	Centrally nucleated skeletal muscle fibers	9453	GGPS1	OMIM:619518
HP:0003687	Centrally nucleated skeletal muscle fibers	9782	MATR3	OMIM:606070
HP:0003687	Centrally nucleated skeletal muscle fibers	79912	PYROXD1	OMIM:617258
HP:0003687	Centrally nucleated skeletal muscle fibers	6606	SMN1	OMIM:271150
HP:0003687	Centrally nucleated skeletal muscle fibers	8087	FXR1	OMIM:618823
HP:0003687	Centrally nucleated skeletal muscle fibers	64419	MTMR14	ORPHA:169189
HP:0003687	Centrally nucleated skeletal muscle fibers	64419	MTMR14	OMIM:160150
HP:0003687	Centrally nucleated skeletal muscle fibers	4618	MYF6	ORPHA:169189
HP:0003687	Centrally nucleated skeletal muscle fibers	1785	DNM2	ORPHA:169189
HP:0003687	Centrally nucleated skeletal muscle fibers	1785	DNM2	OMIM:160150
HP:0003687	Centrally nucleated skeletal muscle fibers	1785	DNM2	OMIM:615368
HP:0003687	Centrally nucleated skeletal muscle fibers	54344	DPM3	OMIM:618992
HP:0003687	Centrally nucleated skeletal muscle fibers	9325	TRIP4	OMIM:617066
HP:0003687	Centrally nucleated skeletal muscle fibers	9325	TRIP4	ORPHA:486815
HP:0003687	Centrally nucleated skeletal muscle fibers	10585	POMT1	ORPHA:86812
HP:0003687	Centrally nucleated skeletal muscle fibers	58	ACTA1	OMIM:616852
HP:0003687	Centrally nucleated skeletal muscle fibers	11149	BVES	OMIM:616812
HP:0003687	Centrally nucleated skeletal muscle fibers	57190	SELENON	OMIM:602771
HP:0003687	Centrally nucleated skeletal muscle fibers	26092	TOR1AIP1	OMIM:617072
HP:0003687	Centrally nucleated skeletal muscle fibers	23345	SYNE1	OMIM:618484
HP:0003687	Centrally nucleated skeletal muscle fibers	146862	UNC45B	OMIM:619178
HP:0003687	Centrally nucleated skeletal muscle fibers	182	JAG1	OMIM:619574
HP:0003687	Centrally nucleated skeletal muscle fibers	22954	TRIM32	OMIM:254110
HP:0003687	Centrally nucleated skeletal muscle fibers	859	CAV3	OMIM:614321
HP:0003687	Centrally nucleated skeletal muscle fibers	311	ANXA11	OMIM:619733
HP:0003687	Centrally nucleated skeletal muscle fibers	825	CAPN3	OMIM:618129
HP:0003687	Centrally nucleated skeletal muscle fibers	57211	ADGRG6	OMIM:616503
HP:0003687	Centrally nucleated skeletal muscle fibers	85365	ALG2	OMIM:616228
HP:0003687	Centrally nucleated skeletal muscle fibers	844	CASQ1	ORPHA:2593
HP:0003687	Centrally nucleated skeletal muscle fibers	84876	ORAI1	ORPHA:2593
HP:0003687	Centrally nucleated skeletal muscle fibers	6786	STIM1	ORPHA:2593
HP:0003687	Centrally nucleated skeletal muscle fibers	779	CACNA1S	OMIM:620246
HP:0003687	Centrally nucleated skeletal muscle fibers	124093	CCDC78	OMIM:614807
HP:0003687	Centrally nucleated skeletal muscle fibers	10367	MICU1	ORPHA:401768
HP:0003687	Centrally nucleated skeletal muscle fibers	23676	SMPX	OMIM:301075
HP:0003687	Centrally nucleated skeletal muscle fibers	5428	POLG	OMIM:607459
HP:0003687	Centrally nucleated skeletal muscle fibers	56652	TWNK	OMIM:607459
HP:0003687	Centrally nucleated skeletal muscle fibers	51776	MAP3K20	OMIM:617760
HP:0003687	Centrally nucleated skeletal muscle fibers	7170	TPM3	OMIM:255310
HP:0003687	Centrally nucleated skeletal muscle fibers	3178	HNRNPA1	OMIM:615424
HP:0003687	Centrally nucleated skeletal muscle fibers	3181	HNRNPA2B1	OMIM:615422
HP:0003687	Centrally nucleated skeletal muscle fibers	284119	CAVIN1	OMIM:613327
HP:0003687	Centrally nucleated skeletal muscle fibers	90523	MLIP	OMIM:620138
HP:0003687	Centrally nucleated skeletal muscle fibers	23224	SYNE2	OMIM:612999
HP:0003687	Centrally nucleated skeletal muscle fibers	23534	TNPO3	OMIM:608423
HP:0003688	Cytochrome C oxidase-negative muscle fibers	1340	COX6B1	OMIM:619051
HP:0003688	Cytochrome C oxidase-negative muscle fibers	291	SLC25A4	ORPHA:254892
HP:0003688	Cytochrome C oxidase-negative muscle fibers	291	SLC25A4	OMIM:609283
HP:0003688	Cytochrome C oxidase-negative muscle fibers	291	SLC25A4	OMIM:615418
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	ORPHA:254892
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	OMIM:603041
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	OMIM:258450
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	OMIM:157640
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	OMIM:607459
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	ORPHA:254886
HP:0003688	Cytochrome C oxidase-negative muscle fibers	5428	POLG	OMIM:613662
HP:0003688	Cytochrome C oxidase-negative muscle fibers	56652	TWNK	ORPHA:254892
HP:0003688	Cytochrome C oxidase-negative muscle fibers	56652	TWNK	OMIM:609286
HP:0003688	Cytochrome C oxidase-negative muscle fibers	56652	TWNK	OMIM:607459
HP:0003688	Cytochrome C oxidase-negative muscle fibers	11232	POLG2	ORPHA:254892
HP:0003688	Cytochrome C oxidase-negative muscle fibers	11232	POLG2	OMIM:610131
HP:0003688	Cytochrome C oxidase-negative muscle fibers	50484	RRM2B	ORPHA:254892
HP:0003688	Cytochrome C oxidase-negative muscle fibers	51204	TACO1	OMIM:619052
HP:0003688	Cytochrome C oxidase-negative muscle fibers	1716	DGUOK	OMIM:617070
HP:0003688	Cytochrome C oxidase-negative muscle fibers	28958	COA3	OMIM:619058
HP:0003688	Cytochrome C oxidase-negative muscle fibers	4574	MT-TS1	OMIM:220110
HP:0003688	Cytochrome C oxidase-negative muscle fibers	4570	MT-TN	OMIM:220110
HP:0003688	Cytochrome C oxidase-negative muscle fibers	6834	SURF1	OMIM:220110
HP:0003688	Cytochrome C oxidase-negative muscle fibers	65080	MRPL44	OMIM:615395
HP:0003688	Cytochrome C oxidase-negative muscle fibers	1890	TYMP	OMIM:603041
HP:0003688	Cytochrome C oxidase-negative muscle fibers	23474	ETHE1	OMIM:602473
HP:0003688	Cytochrome C oxidase-negative muscle fibers	10128	LRPPRC	ORPHA:70472
HP:0003688	Cytochrome C oxidase-negative muscle fibers	84334	COA8	OMIM:619061
HP:0003688	Cytochrome C oxidase-negative muscle fibers	1339	COX6A2	OMIM:619062
HP:0003688	Cytochrome C oxidase-negative muscle fibers	80324	PUS1	OMIM:600462
HP:0003688	Cytochrome C oxidase-negative muscle fibers	7084	TK2	ORPHA:254886
HP:0003688	Cytochrome C oxidase-negative muscle fibers	7084	TK2	OMIM:617069
HP:0003688	Cytochrome C oxidase-negative muscle fibers	4556	MT-TE	ORPHA:254864
HP:0003688	Cytochrome C oxidase-negative muscle fibers	55687	TRMU	ORPHA:254864
HP:0003688	Cytochrome C oxidase-negative muscle fibers	57505	AARS2	OMIM:614096
HP:0003688	Cytochrome C oxidase-negative muscle fibers	57505	AARS2	OMIM:615889
HP:0003688	Cytochrome C oxidase-negative muscle fibers	4697	NDUFA4	OMIM:619065
HP:0003688	Cytochrome C oxidase-negative muscle fibers	51067	YARS2	OMIM:613561
HP:0003688	Cytochrome C oxidase-negative muscle fibers	1352	COX10	OMIM:619046
HP:0003688	Cytochrome C oxidase-negative muscle fibers	125170	MIEF2	OMIM:619024
HP:0003688	Cytochrome C oxidase-negative muscle fibers	84705	GTPBP3	OMIM:616198
HP:0003688	Cytochrome C oxidase-negative muscle fibers	246243	RNASEH1	OMIM:616479
HP:0003688	Cytochrome C oxidase-negative muscle fibers	221927	BRAT1	OMIM:614498
HP:0003688	Cytochrome C oxidase-negative muscle fibers	57570	TRMT5	OMIM:616539
HP:0003688	Cytochrome C oxidase-negative muscle fibers	284439	SLC25A42	OMIM:618416
HP:0003689	Multiple mitochondrial DNA deletions	5428	POLG	OMIM:157640
HP:0003689	Multiple mitochondrial DNA deletions	5428	POLG	OMIM:607459
HP:0003689	Multiple mitochondrial DNA deletions	5428	POLG	OMIM:613662
HP:0003689	Multiple mitochondrial DNA deletions	5428	POLG	OMIM:603041
HP:0003689	Multiple mitochondrial DNA deletions	5428	POLG	OMIM:258450
HP:0003689	Multiple mitochondrial DNA deletions	1716	DGUOK	OMIM:617070
HP:0003689	Multiple mitochondrial DNA deletions	56652	TWNK	OMIM:607459
HP:0003689	Multiple mitochondrial DNA deletions	56652	TWNK	OMIM:609286
HP:0003689	Multiple mitochondrial DNA deletions	92667	MGME1	OMIM:615084
HP:0003689	Multiple mitochondrial DNA deletions	3980	LIG3	OMIM:619780
HP:0003689	Multiple mitochondrial DNA deletions	1763	DNA2	OMIM:615156
HP:0003689	Multiple mitochondrial DNA deletions	50484	RRM2B	OMIM:613077
HP:0003689	Multiple mitochondrial DNA deletions	11232	POLG2	OMIM:610131
HP:0003689	Multiple mitochondrial DNA deletions	291	SLC25A4	OMIM:609283
HP:0003689	Multiple mitochondrial DNA deletions	291	SLC25A4	OMIM:615418
HP:0003689	Multiple mitochondrial DNA deletions	1890	TYMP	OMIM:603041
HP:0003690	Limb muscle weakness	6445	SGCG	ORPHA:353
HP:0003690	Limb muscle weakness	91574	MTRFR	ORPHA:254930
HP:0003690	Limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0003690	Limb muscle weakness	1789	DNMT3B	OMIM:619478
HP:0003690	Limb muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0003690	Limb muscle weakness	9420	CYP7B1	OMIM:270800
HP:0003690	Limb muscle weakness	4744	NEFH	OMIM:616924
HP:0003690	Limb muscle weakness	8314	BAP1	ORPHA:2495
HP:0003690	Limb muscle weakness	4771	NF2	ORPHA:2495
HP:0003690	Limb muscle weakness	6598	SMARCB1	ORPHA:2495
HP:0003690	Limb muscle weakness	5155	PDGFB	ORPHA:2495
HP:0003690	Limb muscle weakness	84231	TRAF7	ORPHA:2495
HP:0003690	Limb muscle weakness	6608	SMO	ORPHA:2495
HP:0003690	Limb muscle weakness	207	AKT1	ORPHA:2495
HP:0003690	Limb muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0003690	Limb muscle weakness	7015	TERT	ORPHA:2495
HP:0003690	Limb muscle weakness	51684	SUFU	ORPHA:2495
HP:0003690	Limb muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0003690	Limb muscle weakness	6687	SPG7	ORPHA:99013
HP:0003690	Limb muscle weakness	6687	SPG7	OMIM:607259
HP:0003690	Limb muscle weakness	2581	GALC	ORPHA:206443
HP:0003690	Limb muscle weakness	2581	GALC	ORPHA:206448
HP:0003690	Limb muscle weakness	3074	HEXB	ORPHA:309169
HP:0003690	Limb muscle weakness	8566	PDXK	OMIM:618511
HP:0003690	Limb muscle weakness	63895	PIEZO2	OMIM:617146
HP:0003690	Limb muscle weakness	10342	TFG	ORPHA:90117
HP:0003690	Limb muscle weakness	8565	YARS1	OMIM:608323
HP:0003690	Limb muscle weakness	5456	POU3F4	ORPHA:1435
HP:0003690	Limb muscle weakness	23636	NUP62	ORPHA:225154
HP:0003690	Limb muscle weakness	103	ADAR	ORPHA:225154
HP:0003690	Limb muscle weakness	55681	SCYL2	ORPHA:1143
HP:0003690	Limb muscle weakness	84570	COL25A1	ORPHA:1143
HP:0003690	Limb muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0003690	Limb muscle weakness	79628	SH3TC2	OMIM:601596
HP:0003690	Limb muscle weakness	23111	SPART	ORPHA:101000
HP:0003690	Limb muscle weakness	2992	GYG1	ORPHA:263297
HP:0003690	Limb muscle weakness	23503	ZFYVE26	ORPHA:100996
HP:0003690	Limb muscle weakness	10667	FARS2	OMIM:617046
HP:0003690	Limb muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0003690	Limb muscle weakness	80199	FUZ	ORPHA:1136
HP:0003690	Limb muscle weakness	2583	B4GALNT1	OMIM:609195
HP:0003690	Limb muscle weakness	3798	KIF5A	OMIM:604187
HP:0003690	Limb muscle weakness	2548	GAA	OMIM:232300
HP:0003690	Limb muscle weakness	79912	PYROXD1	OMIM:617258
HP:0003690	Limb muscle weakness	79581	SLC52A2	OMIM:614707
HP:0003690	Limb muscle weakness	2670	GFAP	ORPHA:363722
HP:0003690	Limb muscle weakness	5191	PEX7	OMIM:266500
HP:0003690	Limb muscle weakness	5264	PHYH	OMIM:266500
HP:0003690	Limb muscle weakness	23230	VPS13A	OMIM:200150
HP:0003690	Limb muscle weakness	11149	BVES	OMIM:616812
HP:0003690	Limb muscle weakness	8106	PABPN1	OMIM:164300
HP:0003690	Limb muscle weakness	8292	COLQ	OMIM:603034
HP:0003690	Limb muscle weakness	270	AMPD1	ORPHA:45
HP:0003690	Limb muscle weakness	272	AMPD3	ORPHA:45
HP:0003690	Limb muscle weakness	51	ACOX1	OMIM:618960
HP:0003690	Limb muscle weakness	210	ALAD	ORPHA:100924
HP:0003690	Limb muscle weakness	3920	LAMP2	OMIM:300257
HP:0003690	Limb muscle weakness	6389	SDHA	OMIM:619259
HP:0003690	Limb muscle weakness	7084	TK2	OMIM:609560
HP:0003690	Limb muscle weakness	966	CD59	OMIM:612300
HP:0003690	Limb muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0003690	Limb muscle weakness	390594	KBTBD13	OMIM:609273
HP:0003690	Limb muscle weakness	686	BTD	ORPHA:79241
HP:0003690	Limb muscle weakness	5351	PLOD1	ORPHA:1900
HP:0003690	Limb muscle weakness	8139	GAN	ORPHA:643
HP:0003690	Limb muscle weakness	899	CCNF	OMIM:619141
HP:0003690	Limb muscle weakness	4507	MTAP	OMIM:112250
HP:0003690	Limb muscle weakness	367	AR	OMIM:313200
HP:0003690	Limb muscle weakness	9325	TRIP4	ORPHA:486815
HP:0003690	Limb muscle weakness	54808	DYM	ORPHA:239
HP:0003690	Limb muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003690	Limb muscle weakness	5428	POLG	ORPHA:254892
HP:0003690	Limb muscle weakness	56652	TWNK	ORPHA:254892
HP:0003690	Limb muscle weakness	11232	POLG2	ORPHA:254892
HP:0003690	Limb muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003690	Limb muscle weakness	7273	TTN	OMIM:603689
HP:0003690	Limb muscle weakness	7273	TTN	ORPHA:609
HP:0003690	Limb muscle weakness	1410	CRYAB	OMIM:608810
HP:0003690	Limb muscle weakness	5255	PHKA1	OMIM:300559
HP:0003690	Limb muscle weakness	7415	VCP	ORPHA:435387
HP:0003690	Limb muscle weakness	22954	TRIM32	OMIM:254110
HP:0003690	Limb muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003690	Limb muscle weakness	54332	GDAP1	ORPHA:101097
HP:0003690	Limb muscle weakness	1756	DMD	ORPHA:206546
HP:0003690	Limb muscle weakness	3339	HSPG2	OMIM:255800
HP:0003690	Limb muscle weakness	203859	ANO5	OMIM:613319
HP:0003690	Limb muscle weakness	1303	COL12A1	ORPHA:610
HP:0003690	Limb muscle weakness	1291	COL6A1	ORPHA:610
HP:0003690	Limb muscle weakness	1292	COL6A2	ORPHA:610
HP:0003690	Limb muscle weakness	1293	COL6A3	ORPHA:610
HP:0003690	Limb muscle weakness	10020	GNE	ORPHA:602
HP:0003690	Limb muscle weakness	4524	MTHFR	ORPHA:395
HP:0003690	Limb muscle weakness	9897	WASHC5	ORPHA:100989
HP:0003690	Limb muscle weakness	9897	WASHC5	OMIM:603563
HP:0003690	Limb muscle weakness	6683	SPAST	ORPHA:100985
HP:0003690	Limb muscle weakness	6683	SPAST	OMIM:182601
HP:0003690	Limb muscle weakness	23345	SYNE1	ORPHA:88644
HP:0003690	Limb muscle weakness	80821	DDHD1	OMIM:609340
HP:0003690	Limb muscle weakness	80821	DDHD1	ORPHA:101008
HP:0003690	Limb muscle weakness	1593	CYP27A1	OMIM:213700
HP:0003690	Limb muscle weakness	825	CAPN3	OMIM:253600
HP:0003690	Limb muscle weakness	825	CAPN3	ORPHA:267
HP:0003690	Limb muscle weakness	123606	NIPA1	OMIM:600363
HP:0003690	Limb muscle weakness	55187	VPS13D	OMIM:607317
HP:0003690	Limb muscle weakness	81790	RNF170	OMIM:619686
HP:0003690	Limb muscle weakness	729920	CRPPA	OMIM:616052
HP:0003690	Limb muscle weakness	518	ATP5MC3	OMIM:619681
HP:0003690	Limb muscle weakness	2782	GNB1	OMIM:616973
HP:0003690	Limb muscle weakness	3897	L1CAM	ORPHA:306617
HP:0003690	Limb muscle weakness	25778	DSTYK	OMIM:270750
HP:0003690	Limb muscle weakness	51324	SPG21	OMIM:248900
HP:0003690	Limb muscle weakness	51324	SPG21	ORPHA:101001
HP:0003690	Limb muscle weakness	2273	FHL1	OMIM:300695
HP:0003690	Limb muscle weakness	51116	MRPS2	OMIM:617950
HP:0003690	Limb muscle weakness	84665	MYPN	ORPHA:171881
HP:0003690	Limb muscle weakness	7169	TPM2	ORPHA:171881
HP:0003690	Limb muscle weakness	9692	PRORP	OMIM:619737
HP:0003690	Limb muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003690	Limb muscle weakness	118813	ZFYVE27	OMIM:610244
HP:0003690	Limb muscle weakness	5921	RASA1	ORPHA:90307
HP:0003690	Limb muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0003690	Limb muscle weakness	10939	AFG3L2	OMIM:614487
HP:0003690	Limb muscle weakness	823	CAPN1	OMIM:616907
HP:0003690	Limb muscle weakness	823	CAPN1	ORPHA:488594
HP:0003690	Limb muscle weakness	112812	FDX2	OMIM:251900
HP:0003690	Limb muscle weakness	857	CAV1	OMIM:606721
HP:0003690	Limb muscle weakness	5297	PI4KA	OMIM:619621
HP:0003690	Limb muscle weakness	246243	RNASEH1	OMIM:616479
HP:0003690	Limb muscle weakness	11160	ERLIN2	OMIM:611225
HP:0003690	Limb muscle weakness	84668	HYCC1	OMIM:610532
HP:0003690	Limb muscle weakness	9907	AP5Z1	OMIM:613647
HP:0003690	Limb muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0003690	Limb muscle weakness	9531	BAG3	OMIM:612954
HP:0003690	Limb muscle weakness	2313	FLI1	ORPHA:370348
HP:0003690	Limb muscle weakness	5621	PRNP	ORPHA:356
HP:0003690	Limb muscle weakness	5621	PRNP	OMIM:137440
HP:0003690	Limb muscle weakness	79784	MYH14	ORPHA:397744
HP:0003690	Limb muscle weakness	9197	SLC33A1	ORPHA:171863
HP:0003690	Limb muscle weakness	3839	KPNA3	OMIM:620106
HP:0003690	Limb muscle weakness	3839	KPNA3	ORPHA:171612
HP:0003690	Limb muscle weakness	1639	DCTN1	OMIM:607641
HP:0003690	Limb muscle weakness	3032	HADHB	ORPHA:746
HP:0003690	Limb muscle weakness	3030	HADHA	ORPHA:746
HP:0003690	Limb muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0003690	Limb muscle weakness	2556	GABRA3	ORPHA:79102
HP:0003690	Limb muscle weakness	779	CACNA1S	ORPHA:79102
HP:0003690	Limb muscle weakness	6606	SMN1	OMIM:253400
HP:0003690	Limb muscle weakness	6607	SMN2	OMIM:253400
HP:0003690	Limb muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0003690	Limb muscle weakness	4763	NF1	OMIM:162210
HP:0003690	Limb muscle weakness	6253	RTN2	OMIM:604805
HP:0003690	Limb muscle weakness	6253	RTN2	ORPHA:100993
HP:0003690	Limb muscle weakness	5165	PDK3	ORPHA:352675
HP:0003690	Limb muscle weakness	23175	LPIN1	ORPHA:99845
HP:0003690	Limb muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0003690	Limb muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0003690	Limb muscle weakness	427	ASAH1	ORPHA:2590
HP:0003690	Limb muscle weakness	3329	HSPD1	OMIM:605280
HP:0003690	Limb muscle weakness	3329	HSPD1	ORPHA:100994
HP:0003690	Limb muscle weakness	9997	SCO2	ORPHA:521411
HP:0003690	Limb muscle weakness	57704	GBA2	OMIM:614409
HP:0003690	Limb muscle weakness	5354	PLP1	OMIM:312920
HP:0003690	Limb muscle weakness	51271	UBAP1	ORPHA:100993
HP:0003690	Limb muscle weakness	3991	LIPE	OMIM:615980
HP:0003690	Limb muscle weakness	10280	SIGMAR1	OMIM:614373
HP:0003690	Limb muscle weakness	16	AARS1	OMIM:613287
HP:0003690	Limb muscle weakness	23312	DMXL2	ORPHA:453533
HP:0003690	Limb muscle weakness	1778	DYNC1H1	OMIM:158600
HP:0003690	Limb muscle weakness	540	ATP7B	ORPHA:905
HP:0003690	Limb muscle weakness	203547	VMA21	OMIM:310440
HP:0003690	Limb muscle weakness	274	BIN1	ORPHA:169189
HP:0003690	Limb muscle weakness	4618	MYF6	ORPHA:169189
HP:0003690	Limb muscle weakness	6261	RYR1	ORPHA:169189
HP:0003690	Limb muscle weakness	23556	PIGN	ORPHA:280633
HP:0003690	Limb muscle weakness	56983	POGLUT1	OMIM:617232
HP:0003690	Limb muscle weakness	64208	POPDC3	OMIM:618848
HP:0003690	Limb muscle weakness	311	ANXA11	OMIM:619733
HP:0003690	Limb muscle weakness	2010	EMD	ORPHA:98863
HP:0003690	Limb muscle weakness	3178	HNRNPA1	OMIM:615424
HP:0003690	Limb muscle weakness	3908	LAMA2	OMIM:618138
HP:0003690	Limb muscle weakness	1371	CPOX	ORPHA:79273
HP:0003690	Limb muscle weakness	90523	MLIP	OMIM:620138
HP:0003690	Limb muscle weakness	3145	HMBS	ORPHA:79276
HP:0003690	Limb muscle weakness	79188	TMEM43	ORPHA:98853
HP:0003690	Limb muscle weakness	23224	SYNE2	ORPHA:98853
HP:0003690	Limb muscle weakness	5498	PPOX	ORPHA:79473
HP:0003690	Limb muscle weakness	4141	MARS1	OMIM:616280
HP:0003690	Limb muscle weakness	4703	NEB	OMIM:256030
HP:0003690	Limb muscle weakness	4703	NEB	ORPHA:171436
HP:0003690	Limb muscle weakness	4703	NEB	ORPHA:399103
HP:0003690	Limb muscle weakness	9499	MYOT	ORPHA:266
HP:0003690	Limb muscle weakness	10743	RAI1	ORPHA:477817
HP:0003690	Limb muscle weakness	58	ACTA1	ORPHA:171436
HP:0003690	Limb muscle weakness	58	ACTA1	OMIM:616852
HP:0003690	Limb muscle weakness	58	ACTA1	ORPHA:2020
HP:0003690	Limb muscle weakness	10324	KLHL41	ORPHA:171436
HP:0003690	Limb muscle weakness	56203	LMOD3	ORPHA:171436
HP:0003690	Limb muscle weakness	1073	CFL2	ORPHA:171436
HP:0003690	Limb muscle weakness	6905	TBCE	ORPHA:496756
HP:0003690	Limb muscle weakness	6905	TBCE	OMIM:617207
HP:0003690	Limb muscle weakness	84876	ORAI1	OMIM:615883
HP:0003690	Limb muscle weakness	90678	LRSAM1	OMIM:614436
HP:0003690	Limb muscle weakness	1130	LYST	OMIM:214500
HP:0003690	Limb muscle weakness	1890	TYMP	ORPHA:298
HP:0003690	Limb muscle weakness	3980	LIG3	ORPHA:298
HP:0003690	Limb muscle weakness	23347	SMCHD1	OMIM:158901
HP:0003690	Limb muscle weakness	8888	MCM3AP	OMIM:618124
HP:0003690	Limb muscle weakness	4358	MPV17	OMIM:618400
HP:0003690	Limb muscle weakness	5832	ALDH18A1	OMIM:616586
HP:0003690	Limb muscle weakness	116228	COX20	OMIM:619054
HP:0003690	Limb muscle weakness	8878	SQSTM1	OMIM:617158
HP:0003690	Limb muscle weakness	8878	SQSTM1	ORPHA:603
HP:0003690	Limb muscle weakness	7072	TIA1	ORPHA:603
HP:0003690	Limb muscle weakness	29967	LRP12	OMIM:164310
HP:0003690	Limb muscle weakness	26278	SACS	ORPHA:98
HP:0003690	Limb muscle weakness	57190	SELENON	ORPHA:2020
HP:0003690	Limb muscle weakness	4633	MYL2	ORPHA:2020
HP:0003690	Limb muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003690	Limb muscle weakness	9200	HACD1	ORPHA:2020
HP:0003690	Limb muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003690	Limb muscle weakness	64423	INF2	OMIM:614455
HP:0003690	Limb muscle weakness	3735	KARS1	OMIM:613641
HP:0003690	Limb muscle weakness	88	ACTN2	OMIM:618655
HP:0003690	Limb muscle weakness	2783	GNB2	OMIM:619503
HP:0003690	Limb muscle weakness	89874	SLC25A21	OMIM:618811
HP:0003690	Limb muscle weakness	10558	SPTLC1	ORPHA:36386
HP:0003690	Limb muscle weakness	25923	ATL3	ORPHA:36386
HP:0003690	Limb muscle weakness	65260	COA7	OMIM:618387
HP:0003690	Limb muscle weakness	57863	CADM3	OMIM:619519
HP:0003690	Limb muscle weakness	476	ATP1A1	OMIM:618036
HP:0003690	Limb muscle weakness	23095	KIF1B	OMIM:118210
HP:0003690	Limb muscle weakness	79152	FA2H	ORPHA:171629
HP:0003690	Limb muscle weakness	11155	LDB3	ORPHA:98912
HP:0003690	Limb muscle weakness	339855	KY	OMIM:617114
HP:0003690	Limb muscle weakness	3300	DNAJB2	OMIM:614881
HP:0003690	Limb muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003690	Limb muscle weakness	3930	LBR	OMIM:169400
HP:0003690	Limb muscle weakness	1337	COX6A1	OMIM:616039
HP:0003690	Limb muscle weakness	8729	GBF1	OMIM:606483
HP:0003690	Limb muscle weakness	2137	EXTL3	ORPHA:508533
HP:0003690	Limb muscle weakness	51062	ATL1	ORPHA:100984
HP:0003690	Limb muscle weakness	3094	HINT1	ORPHA:324442
HP:0003690	Limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0003690	Limb muscle weakness	59341	TRPV4	OMIM:600175
HP:0003690	Limb muscle weakness	4137	MAPT	ORPHA:240094
HP:0003690	Limb muscle weakness	9782	MATR3	OMIM:606070
HP:0003690	Limb muscle weakness	4311	MME	OMIM:617017
HP:0003690	Limb muscle weakness	4311	MME	ORPHA:497764
HP:0003690	Limb muscle weakness	4508	MT-ATP6	ORPHA:320360
HP:0003690	Limb muscle weakness	2617	GARS1	ORPHA:139536
HP:0003690	Limb muscle weakness	26580	BSCL2	ORPHA:139536
HP:0003690	Limb muscle weakness	26580	BSCL2	OMIM:619112
HP:0003690	Limb muscle weakness	65055	REEP1	ORPHA:139536
HP:0003690	Limb muscle weakness	11284	PNKP	ORPHA:459033
HP:0003690	Limb muscle weakness	55775	TDP1	ORPHA:94124
HP:0003690	Limb muscle weakness	4747	NEFL	OMIM:607684
HP:0003690	Limb muscle weakness	4747	NEFL	ORPHA:101085
HP:0003690	Limb muscle weakness	4000	LMNA	OMIM:181350
HP:0003690	Limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0003690	Limb muscle weakness	5339	PLEC	ORPHA:254361
HP:0003690	Limb muscle weakness	7879	RAB7A	OMIM:600882
HP:0003690	Limb muscle weakness	200205	IBA57	ORPHA:468661
HP:0003690	Limb muscle weakness	3714	JAG2	OMIM:619566
HP:0003690	Limb muscle weakness	6652	SORD	OMIM:618912
HP:0003690	Limb muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0003690	Limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0003690	Limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0003690	Limb muscle weakness	3315	HSPB1	OMIM:608634
HP:0003690	Limb muscle weakness	215	ABCD1	ORPHA:139399
HP:0003690	Limb muscle weakness	10908	PNPLA6	OMIM:612020
HP:0003690	Limb muscle weakness	7170	TPM3	OMIM:609284
HP:0003690	Limb muscle weakness	64856	VWA1	OMIM:619216
HP:0003690	Limb muscle weakness	4547	MTTP	ORPHA:14
HP:0003690	Limb muscle weakness	8557	TCAP	OMIM:601954
HP:0003690	Limb muscle weakness	2705	GJB1	OMIM:302800
HP:0003690	Limb muscle weakness	547	KIF1A	OMIM:614213
HP:0003690	Limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0003690	Limb muscle weakness	8884	SLC5A6	OMIM:619903
HP:0003690	Limb muscle weakness	7453	WARS1	OMIM:617721
HP:0003690	Limb muscle weakness	55526	DHTKD1	OMIM:615025
HP:0003690	Limb muscle weakness	9131	AIFM1	OMIM:310490
HP:0003690	Limb muscle weakness	5376	PMP22	ORPHA:90658
HP:0003690	Limb muscle weakness	5376	PMP22	ORPHA:98916
HP:0003690	Limb muscle weakness	5376	PMP22	OMIM:145900
HP:0003690	Limb muscle weakness	121512	FGD4	OMIM:609311
HP:0003690	Limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003690	Limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003690	Limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0003690	Limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0003690	Limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0003690	Limb muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0003690	Limb muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0003690	Limb muscle weakness	9990	SLC12A6	OMIM:620068
HP:0003690	Limb muscle weakness	1785	DNM2	OMIM:160150
HP:0003690	Limb muscle weakness	64419	MTMR14	OMIM:160150
HP:0003690	Limb muscle weakness	6305	SBF1	OMIM:615284
HP:0003690	Limb muscle weakness	5375	PMP2	OMIM:618279
HP:0003690	Limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0003690	Limb muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003690	Limb muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003690	Limb muscle weakness	1103	CHAT	ORPHA:98914
HP:0003690	Limb muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003690	Limb muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003690	Limb muscle weakness	127833	SYT2	ORPHA:98914
HP:0003690	Limb muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003690	Limb muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003690	Limb muscle weakness	26353	HSPB8	OMIM:158590
HP:0003690	Limb muscle weakness	7428	VHL	ORPHA:892
HP:0003690	Limb muscle weakness	595	CCND1	ORPHA:892
HP:0003690	Limb muscle weakness	23299	BICD2	OMIM:615290
HP:0003690	Limb muscle weakness	11117	EMILIN1	OMIM:620080
HP:0003690	Limb muscle weakness	1674	DES	ORPHA:98909
HP:0003690	Limb muscle weakness	80208	SPG11	OMIM:616668
HP:0003690	Limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0003690	Limb muscle weakness	57410	SCYL1	ORPHA:466794
HP:0003690	Limb muscle weakness	3098	HK1	ORPHA:99953
HP:0003690	Limb muscle weakness	3098	HK1	OMIM:605285
HP:0003690	Limb muscle weakness	126129	CPT1C	ORPHA:444099
HP:0003690	Limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0003690	Limb muscle weakness	23676	SMPX	OMIM:301075
HP:0003690	Limb muscle weakness	59345	GNB4	OMIM:615185
HP:0003690	Limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0003690	Limb muscle weakness	4359	MPZ	OMIM:145900
HP:0003690	Limb muscle weakness	1959	EGR2	OMIM:145900
HP:0003690	Limb muscle weakness	57716	PRX	OMIM:145900
HP:0003690	Limb muscle weakness	1757	SARDH	ORPHA:3129
HP:0003690	Limb muscle weakness	2218	FKTN	OMIM:611588
HP:0003690	Limb muscle weakness	81545	FBXO38	OMIM:615575
HP:0003690	Limb muscle weakness	8291	DYSF	ORPHA:45448
HP:0003690	Limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003690	Limb muscle weakness	9927	MFN2	ORPHA:99947
HP:0003690	Limb muscle weakness	10585	POMT1	ORPHA:86812
HP:0003690	Limb muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003690	Limb muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003690	Limb muscle weakness	4038	LRP4	ORPHA:98913
HP:0003690	Limb muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003690	Limb muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003690	Limb muscle weakness	1144	CHRND	ORPHA:98913
HP:0003690	Limb muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003690	Limb muscle weakness	4593	MUSK	ORPHA:98913
HP:0003690	Limb muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003690	Limb muscle weakness	375790	AGRN	ORPHA:98913
HP:0003690	Limb muscle weakness	221264	AK9	ORPHA:98913
HP:0003690	Limb muscle weakness	285489	DOK7	ORPHA:98913
HP:0003690	Limb muscle weakness	4625	MYH7	ORPHA:437572
HP:0003690	Limb muscle weakness	182	JAG1	OMIM:619574
HP:0003691	Scapular winging	274	BIN1	ORPHA:169186
HP:0003691	Scapular winging	274	BIN1	OMIM:255200
HP:0003691	Scapular winging	10290	SPEG	ORPHA:169186
HP:0003691	Scapular winging	6261	RYR1	ORPHA:169186
HP:0003691	Scapular winging	6261	RYR1	ORPHA:424107
HP:0003691	Scapular winging	7273	TTN	ORPHA:169186
HP:0003691	Scapular winging	7273	TTN	OMIM:603689
HP:0003691	Scapular winging	79912	PYROXD1	OMIM:617258
HP:0003691	Scapular winging	9820	CUL7	ORPHA:2616
HP:0003691	Scapular winging	9820	CUL7	OMIM:273750
HP:0003691	Scapular winging	23363	OBSL1	ORPHA:2616
HP:0003691	Scapular winging	23363	OBSL1	OMIM:612921
HP:0003691	Scapular winging	83987	CCDC8	ORPHA:2616
HP:0003691	Scapular winging	7415	VCP	OMIM:167320
HP:0003691	Scapular winging	7415	VCP	ORPHA:435387
HP:0003691	Scapular winging	7415	VCP	ORPHA:329478
HP:0003691	Scapular winging	825	CAPN3	OMIM:253600
HP:0003691	Scapular winging	825	CAPN3	ORPHA:267
HP:0003691	Scapular winging	825	CAPN3	OMIM:618129
HP:0003691	Scapular winging	6442	SGCA	OMIM:608099
HP:0003691	Scapular winging	6442	SGCA	ORPHA:62
HP:0003691	Scapular winging	4000	LMNA	OMIM:181350
HP:0003691	Scapular winging	4000	LMNA	ORPHA:98855
HP:0003691	Scapular winging	4000	LMNA	ORPHA:98853
HP:0003691	Scapular winging	8291	DYSF	ORPHA:268
HP:0003691	Scapular winging	7084	TK2	ORPHA:254886
HP:0003691	Scapular winging	7084	TK2	OMIM:617069
HP:0003691	Scapular winging	5428	POLG	ORPHA:254886
HP:0003691	Scapular winging	5428	POLG	OMIM:607459
HP:0003691	Scapular winging	729920	CRPPA	OMIM:616052
HP:0003691	Scapular winging	729920	CRPPA	ORPHA:352479
HP:0003691	Scapular winging	55790	CSGALNACT1	OMIM:618870
HP:0003691	Scapular winging	58	ACTA1	OMIM:616852
HP:0003691	Scapular winging	58	ACTA1	ORPHA:171439
HP:0003691	Scapular winging	6443	SGCB	OMIM:604286
HP:0003691	Scapular winging	2992	GYG1	OMIM:613507
HP:0003691	Scapular winging	25778	DSTYK	OMIM:270750
HP:0003691	Scapular winging	29925	GMPPB	ORPHA:353327
HP:0003691	Scapular winging	2673	GFPT1	ORPHA:353327
HP:0003691	Scapular winging	1798	DPAGT1	ORPHA:353327
HP:0003691	Scapular winging	85365	ALG2	ORPHA:353327
HP:0003691	Scapular winging	85365	ALG2	OMIM:616228
HP:0003691	Scapular winging	199857	ALG14	ORPHA:353327
HP:0003691	Scapular winging	10059	DNM1L	ORPHA:98673
HP:0003691	Scapular winging	4976	OPA1	ORPHA:98673
HP:0003691	Scapular winging	6444	SGCD	OMIM:601287
HP:0003691	Scapular winging	6444	SGCD	ORPHA:219
HP:0003691	Scapular winging	2273	FHL1	OMIM:300696
HP:0003691	Scapular winging	2273	FHL1	OMIM:300695
HP:0003691	Scapular winging	2273	FHL1	ORPHA:98863
HP:0003691	Scapular winging	2316	FLNA	OMIM:305620
HP:0003691	Scapular winging	2483	FRG1	OMIM:158900
HP:0003691	Scapular winging	23347	SMCHD1	OMIM:158901
HP:0003691	Scapular winging	55870	ASH1L	OMIM:617796
HP:0003691	Scapular winging	8878	SQSTM1	OMIM:617158
HP:0003691	Scapular winging	7169	TPM2	OMIM:609285
HP:0003691	Scapular winging	7169	TPM2	ORPHA:171439
HP:0003691	Scapular winging	64856	VWA1	OMIM:619216
HP:0003691	Scapular winging	311	ANXA11	OMIM:619733
HP:0003691	Scapular winging	4604	MYBPC1	OMIM:618524
HP:0003691	Scapular winging	2138	EYA1	ORPHA:2792
HP:0003691	Scapular winging	2138	EYA1	OMIM:166780
HP:0003691	Scapular winging	5075	PAX1	ORPHA:2792
HP:0003691	Scapular winging	5075	PAX1	OMIM:615560
HP:0003691	Scapular winging	4625	MYH7	OMIM:608358
HP:0003691	Scapular winging	4625	MYH7	ORPHA:437572
HP:0003691	Scapular winging	3759	KCNJ2	OMIM:170390
HP:0003691	Scapular winging	5077	PAX3	OMIM:148820
HP:0003691	Scapular winging	10020	GNE	ORPHA:602
HP:0003691	Scapular winging	4620	MYH2	OMIM:605637
HP:0003691	Scapular winging	80324	PUS1	OMIM:600462
HP:0003691	Scapular winging	1303	COL12A1	OMIM:616471
HP:0003691	Scapular winging	1303	COL12A1	ORPHA:610
HP:0003691	Scapular winging	83636	C19orf12	OMIM:614298
HP:0003691	Scapular winging	23545	ATP6V0A2	OMIM:278250
HP:0003691	Scapular winging	200734	SPRED2	OMIM:619745
HP:0003691	Scapular winging	9531	BAG3	OMIM:612954
HP:0003691	Scapular winging	4747	NEFL	ORPHA:101085
HP:0003691	Scapular winging	2200	FBN1	OMIM:616914
HP:0003691	Scapular winging	6445	SGCG	ORPHA:353
HP:0003691	Scapular winging	55791	LRIF1	OMIM:619477
HP:0003691	Scapular winging	84665	MYPN	OMIM:617336
HP:0003691	Scapular winging	84665	MYPN	ORPHA:171439
HP:0003691	Scapular winging	5781	PTPN11	ORPHA:500
HP:0003691	Scapular winging	5781	PTPN11	OMIM:151100
HP:0003691	Scapular winging	673	BRAF	ORPHA:500
HP:0003691	Scapular winging	5894	RAF1	ORPHA:500
HP:0003691	Scapular winging	7204	TRIO	OMIM:617061
HP:0003691	Scapular winging	10220	GDF11	OMIM:619122
HP:0003691	Scapular winging	163175	LGI4	OMIM:617468
HP:0003691	Scapular winging	8292	COLQ	ORPHA:98915
HP:0003691	Scapular winging	3913	LAMB2	ORPHA:98915
HP:0003691	Scapular winging	1291	COL6A1	ORPHA:610
HP:0003691	Scapular winging	1292	COL6A2	ORPHA:610
HP:0003691	Scapular winging	1293	COL6A3	ORPHA:610
HP:0003691	Scapular winging	23299	BICD2	OMIM:615290
HP:0003691	Scapular winging	11117	EMILIN1	OMIM:620080
HP:0003691	Scapular winging	56983	POGLUT1	OMIM:617232
HP:0003691	Scapular winging	57479	PRR12	OMIM:619539
HP:0003691	Scapular winging	390594	KBTBD13	ORPHA:171439
HP:0003691	Scapular winging	4703	NEB	ORPHA:171439
HP:0003691	Scapular winging	10324	KLHL41	ORPHA:171439
HP:0003691	Scapular winging	7170	TPM3	ORPHA:171439
HP:0003691	Scapular winging	2317	FLNB	OMIM:272460
HP:0003691	Scapular winging	2010	EMD	ORPHA:98863
HP:0003691	Scapular winging	29954	POMT2	ORPHA:206559
HP:0003691	Scapular winging	23676	SMPX	OMIM:301075
HP:0003691	Scapular winging	56652	TWNK	OMIM:607459
HP:0003691	Scapular winging	7043	TGFB3	OMIM:615582
HP:0003691	Scapular winging	10801	SEPTIN9	ORPHA:2901
HP:0003691	Scapular winging	7227	TRPS1	OMIM:190350
HP:0003691	Scapular winging	23224	SYNE2	OMIM:612999
HP:0003691	Scapular winging	23224	SYNE2	ORPHA:98853
HP:0003691	Scapular winging	23534	TNPO3	OMIM:608423
HP:0003691	Scapular winging	59341	TRPV4	OMIM:181405
HP:0003691	Scapular winging	79188	TMEM43	ORPHA:98853
HP:0003691	Scapular winging	23345	SYNE1	ORPHA:98853
HP:0003691	Scapular winging	203859	ANO5	ORPHA:206549
HP:0003749	Pelvic girdle muscle weakness	6261	RYR1	ORPHA:597
HP:0003749	Pelvic girdle muscle weakness	7273	TTN	OMIM:603689
HP:0003749	Pelvic girdle muscle weakness	1410	CRYAB	OMIM:608810
HP:0003749	Pelvic girdle muscle weakness	23347	SMCHD1	OMIM:158901
HP:0003749	Pelvic girdle muscle weakness	1763	DNA2	OMIM:615156
HP:0003749	Pelvic girdle muscle weakness	5255	PHKA1	OMIM:300559
HP:0003749	Pelvic girdle muscle weakness	22954	TRIM32	OMIM:254110
HP:0003749	Pelvic girdle muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003749	Pelvic girdle muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003749	Pelvic girdle muscle weakness	5257	PHKB	ORPHA:79240
HP:0003749	Pelvic girdle muscle weakness	7415	VCP	OMIM:167320
HP:0003749	Pelvic girdle muscle weakness	4625	MYH7	OMIM:608358
HP:0003749	Pelvic girdle muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003749	Pelvic girdle muscle weakness	6606	SMN1	OMIM:253400
HP:0003749	Pelvic girdle muscle weakness	6607	SMN2	OMIM:253400
HP:0003749	Pelvic girdle muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003749	Pelvic girdle muscle weakness	9499	MYOT	ORPHA:266
HP:0003749	Pelvic girdle muscle weakness	5339	PLEC	ORPHA:254361
HP:0003749	Pelvic girdle muscle weakness	79147	FKRP	ORPHA:34515
HP:0003749	Pelvic girdle muscle weakness	79147	FKRP	OMIM:607155
HP:0003749	Pelvic girdle muscle weakness	57190	SELENON	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	58	ACTA1	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	4633	MYL2	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	7169	TPM2	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	9200	HACD1	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	7170	TPM3	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	54344	DPM3	ORPHA:263494
HP:0003749	Pelvic girdle muscle weakness	2992	GYG1	OMIM:616199
HP:0003749	Pelvic girdle muscle weakness	8291	DYSF	ORPHA:45448
HP:0003749	Pelvic girdle muscle weakness	23534	TNPO3	OMIM:608423
HP:0003749	Pelvic girdle muscle weakness	6443	SGCB	ORPHA:119
HP:0003749	Pelvic girdle muscle weakness	203859	ANO5	OMIM:611307
HP:0003749	Pelvic girdle muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0003749	Pelvic girdle muscle weakness	2318	FLNC	ORPHA:63273
HP:0003749	Pelvic girdle muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	4038	LRP4	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1144	CHRND	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	4593	MUSK	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	375790	AGRN	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	221264	AK9	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	285489	DOK7	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	10020	GNE	ORPHA:602
HP:0003694	Late-onset proximal muscle weakness	1410	CRYAB	OMIM:608810
HP:0003694	Late-onset proximal muscle weakness	6329	SCN4A	ORPHA:681
HP:0003694	Late-onset proximal muscle weakness	779	CACNA1S	ORPHA:681
HP:0003694	Late-onset proximal muscle weakness	779	CACNA1S	ORPHA:79102
HP:0003694	Late-onset proximal muscle weakness	10008	KCNE3	ORPHA:681
HP:0003694	Late-onset proximal muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0003694	Late-onset proximal muscle weakness	2556	GABRA3	ORPHA:79102
HP:0003694	Late-onset proximal muscle weakness	1674	DES	OMIM:601419
HP:0003697	Scapuloperoneal amyotrophy	57449	PLEKHG5	OMIM:611067
HP:0003697	Scapuloperoneal amyotrophy	4625	MYH7	OMIM:255160
HP:0003697	Scapuloperoneal amyotrophy	4625	MYH7	OMIM:608358
HP:0003697	Scapuloperoneal amyotrophy	4000	LMNA	OMIM:613205
HP:0003697	Scapuloperoneal amyotrophy	59341	TRPV4	OMIM:181405
HP:0003697	Scapuloperoneal amyotrophy	29954	POMT2	ORPHA:206559
HP:0003698	Difficulty standing	6611	SMS	ORPHA:3063
HP:0003698	Difficulty standing	10342	TFG	ORPHA:431329
HP:0003698	Difficulty standing	10342	TFG	ORPHA:90117
HP:0003698	Difficulty standing	7084	TK2	ORPHA:254875
HP:0003698	Difficulty standing	339855	KY	ORPHA:496689
HP:0003698	Difficulty standing	142680	SLC34A3	OMIM:241530
HP:0003698	Difficulty standing	2911	GRM1	ORPHA:324262
HP:0003698	Difficulty standing	2055	CLN8	ORPHA:1947
HP:0003698	Difficulty standing	9499	MYOT	ORPHA:266
HP:0003698	Difficulty standing	492	ATP2B3	OMIM:302500
HP:0003698	Difficulty standing	8733	GPAA1	ORPHA:529665
HP:0003698	Difficulty standing	1594	CYP27B1	OMIM:264700
HP:0003698	Difficulty standing	84188	FAR1	ORPHA:438178
HP:0003698	Difficulty standing	6905	TBCE	ORPHA:496756
HP:0003698	Difficulty standing	6833	ABCC8	OMIM:618857
HP:0003698	Difficulty standing	7421	VDR	OMIM:277440
HP:0003698	Difficulty standing	10352	WARS2	ORPHA:572798
HP:0003698	Difficulty standing	57570	TRMT5	OMIM:616539
HP:0003698	Difficulty standing	8291	DYSF	ORPHA:45448
HP:0003698	Difficulty standing	2903	GRIN2A	ORPHA:98818
HP:0003698	Difficulty standing	120227	CYP2R1	OMIM:600081
HP:0003698	Difficulty standing	54808	DYM	ORPHA:239
HP:0010242	Aplasia of the proximal phalanges of the hand	658	BMPR1B	OMIM:609441
HP:0010242	Aplasia of the proximal phalanges of the hand	7516	XRCC2	OMIM:617247
HP:0010242	Aplasia of the proximal phalanges of the hand	2177	FANCD2	OMIM:227646
HP:0010242	Aplasia of the proximal phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0010242	Aplasia of the proximal phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0010242	Aplasia of the proximal phalanges of the hand	64327	LMBR1	ORPHA:93321
HP:0010242	Aplasia of the proximal phalanges of the hand	6469	SHH	ORPHA:93321
HP:0010242	Aplasia of the proximal phalanges of the hand	7204	TRIO	ORPHA:476126
HP:0010046	Aplasia of the 5th metacarpal	6926	TBX3	OMIM:181450
HP:0004233	Advanced ossification of carpal bones	84068	SLC10A7	OMIM:618363
HP:0004233	Advanced ossification of carpal bones	29072	SETD2	OMIM:616831
HP:0004233	Advanced ossification of carpal bones	5144	PDE4D	OMIM:614613
HP:0004233	Advanced ossification of carpal bones	54187	NANS	OMIM:610442
HP:0004233	Advanced ossification of carpal bones	64131	XYLT1	OMIM:615777
HP:0004233	Advanced ossification of carpal bones	347734	SLC35B2	OMIM:620269
HP:0004233	Advanced ossification of carpal bones	126792	B3GALT6	OMIM:615349
HP:0004233	Advanced ossification of carpal bones	126792	B3GALT6	OMIM:271640
HP:0004233	Advanced ossification of carpal bones	23169	SLC35D1	OMIM:269250
HP:0004233	Advanced ossification of carpal bones	124583	CANT1	OMIM:617719
HP:0004233	Advanced ossification of carpal bones	124583	CANT1	OMIM:251450
HP:0004233	Advanced ossification of carpal bones	5745	PTH1R	OMIM:215045
HP:0010252	Ivory epiphyses of the distal phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010252	Ivory epiphyses of the distal phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0006107	Fingerpad telangiectases	94	ACVRL1	OMIM:600376
HP:0006107	Fingerpad telangiectases	2022	ENG	OMIM:187300
HP:0006110	Shortening of all middle phalanges of the fingers	1280	COL2A1	OMIM:271700
HP:0006110	Shortening of all middle phalanges of the fingers	2260	FGFR1	OMIM:101600
HP:0006110	Shortening of all middle phalanges of the fingers	2263	FGFR2	OMIM:101600
HP:0006110	Shortening of all middle phalanges of the fingers	84295	PHF6	OMIM:301900
HP:0006110	Shortening of all middle phalanges of the fingers	3209	HOXA13	OMIM:140000
HP:0006110	Shortening of all middle phalanges of the fingers	3209	HOXA13	ORPHA:2438
HP:0006110	Shortening of all middle phalanges of the fingers	9451	EIF2AK3	OMIM:226980
HP:0006110	Shortening of all middle phalanges of the fingers	8200	GDF5	OMIM:201250
HP:0006112	Expanded phalanges with widened medullary cavities	64135	IFIH1	OMIM:182250
HP:0009836	Broad distal phalanx of finger	2316	FLNA	OMIM:311300
HP:0009836	Broad distal phalanx of finger	2778	GNAS	ORPHA:79443
HP:0009836	Broad distal phalanx of finger	2778	GNAS	ORPHA:79444
HP:0009836	Broad distal phalanx of finger	2263	FGFR2	OMIM:101200
HP:0009836	Broad distal phalanx of finger	3239	HOXD13	OMIM:113200
HP:0009836	Broad distal phalanx of finger	9949	AMMECR1	OMIM:300990
HP:0009836	Broad distal phalanx of finger	9653	HS2ST1	OMIM:619194
HP:0009836	Broad distal phalanx of finger	2239	GPC4	OMIM:301026
HP:0009836	Broad distal phalanx of finger	2239	GPC4	ORPHA:2662
HP:0009836	Broad distal phalanx of finger	3835	KIF22	OMIM:603546
HP:0009836	Broad distal phalanx of finger	1387	CREBBP	OMIM:180849
HP:0009836	Broad distal phalanx of finger	1387	CREBBP	ORPHA:353277
HP:0009836	Broad distal phalanx of finger	1387	CREBBP	ORPHA:353281
HP:0009836	Broad distal phalanx of finger	2033	EP300	OMIM:180849
HP:0009836	Broad distal phalanx of finger	2033	EP300	ORPHA:353284
HP:0009836	Broad distal phalanx of finger	100151683	RNU4ATAC	ORPHA:2636
HP:0009836	Broad distal phalanx of finger	126792	B3GALT6	OMIM:609465
HP:0009836	Broad distal phalanx of finger	126792	B3GALT6	OMIM:271640
HP:0009836	Broad distal phalanx of finger	2317	FLNB	ORPHA:503
HP:0009836	Broad distal phalanx of finger	55209	SETD5	ORPHA:404440
HP:0009836	Broad distal phalanx of finger	55209	SETD5	OMIM:615761
HP:0009836	Broad distal phalanx of finger	57459	GATAD2B	ORPHA:363686
HP:0009836	Broad distal phalanx of finger	6595	SMARCA2	OMIM:601358
HP:0009836	Broad distal phalanx of finger	6595	SMARCA2	ORPHA:3051
HP:0009836	Broad distal phalanx of finger	633	BGN	OMIM:300989
HP:0009836	Broad distal phalanx of finger	23404	EXOSC2	OMIM:617763
HP:0009836	Broad distal phalanx of finger	57728	WDR19	OMIM:614378
HP:0009836	Broad distal phalanx of finger	79971	WLS	OMIM:619648
HP:0009836	Broad distal phalanx of finger	388015	RTL1	ORPHA:96334
HP:0009836	Broad distal phalanx of finger	8788	DLK1	ORPHA:96334
HP:0009836	Broad distal phalanx of finger	55384	MEG3	ORPHA:96334
HP:0009836	Broad distal phalanx of finger	9469	CHST3	OMIM:245600
HP:0009836	Broad distal phalanx of finger	26229	B3GAT3	OMIM:245600
HP:0009836	Broad distal phalanx of finger	55764	IFT122	OMIM:218330
HP:0006114	Multiple palmar creases	23545	ATP6V0A2	ORPHA:2834
HP:0005863	Type E brachydactyly	9759	HDAC4	OMIM:600430
HP:0005863	Type E brachydactyly	5139	PDE3A	OMIM:112410
HP:0005863	Type E brachydactyly	5744	PTHLH	ORPHA:93387
HP:0005863	Type E brachydactyly	3239	HOXD13	ORPHA:93387
HP:0005863	Type E brachydactyly	3239	HOXD13	OMIM:113300
HP:0005863	Type E brachydactyly	1280	COL2A1	ORPHA:1856
HP:0006118	Shortening of all distal phalanges of the fingers	84295	PHF6	OMIM:301900
HP:0006118	Shortening of all distal phalanges of the fingers	84992	PIGY	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	84992	PIGY	OMIM:616809
HP:0006118	Shortening of all distal phalanges of the fingers	84720	PIGO	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	84720	PIGO	OMIM:614749
HP:0006118	Shortening of all distal phalanges of the fingers	93210	PGAP3	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	93210	PGAP3	OMIM:615716
HP:0006118	Shortening of all distal phalanges of the fingers	284098	PIGW	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	27315	PGAP2	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	27315	PGAP2	OMIM:614207
HP:0006118	Shortening of all distal phalanges of the fingers	55650	PIGV	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	9487	PIGL	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	57020	VPS35L	OMIM:619135
HP:0006118	Shortening of all distal phalanges of the fingers	4256	MGP	OMIM:245150
HP:0006118	Shortening of all distal phalanges of the fingers	2972	BRF1	OMIM:616202
HP:0006118	Shortening of all distal phalanges of the fingers	29929	ALG6	ORPHA:79320
HP:0006118	Shortening of all distal phalanges of the fingers	5447	POR	ORPHA:95699
HP:0006119	Proximal tapering of metacarpals	2720	GLB1	OMIM:253010
HP:0006119	Proximal tapering of metacarpals	2588	GALNS	OMIM:253000
HP:0006119	Proximal tapering of metacarpals	2990	GUSB	OMIM:253220
HP:0006121	Acral ulceration	10558	SPTLC1	OMIM:162400
HP:0006121	Acral ulceration	54463	RETREG1	OMIM:201300
HP:0006121	Acral ulceration	54463	RETREG1	OMIM:613115
HP:0006121	Acral ulceration	65125	WNK1	OMIM:201300
HP:0006121	Acral ulceration	6335	SCN9A	OMIM:201300
HP:0006121	Acral ulceration	547	KIF1A	OMIM:201300
HP:0006121	Acral ulceration	547	KIF1A	OMIM:614213
HP:0006121	Acral ulceration	22948	CCT5	OMIM:256840
HP:0006121	Acral ulceration	22948	CCT5	ORPHA:139578
HP:0006121	Acral ulceration	4358	MPV17	OMIM:256810
HP:0006121	Acral ulceration	4914	NTRK1	OMIM:256800
HP:0006121	Acral ulceration	4803	NGF	OMIM:608654
HP:0010104	Absent first metatarsal	7291	TWIST1	OMIM:101400
HP:0010104	Absent first metatarsal	2263	FGFR2	OMIM:101400
HP:0006127	Long proximal phalanx of finger	3835	KIF22	OMIM:603546
HP:0006129	Drumstick terminal phalanges	6197	RPS6KA3	OMIM:303600
HP:0006129	Drumstick terminal phalanges	3376	IARS1	ORPHA:541423
HP:0006129	Drumstick terminal phalanges	79068	FTO	OMIM:612938
HP:0006135	Decreased finger mobility	2318	FLNC	ORPHA:63273
HP:0006135	Decreased finger mobility	79158	GNPTAB	ORPHA:576
HP:0006135	Decreased finger mobility	9987	HNRNPDL	OMIM:609115
HP:0006135	Decreased finger mobility	3848	KRT1	ORPHA:530838
HP:0006136	Bilateral postaxial polydactyly	2737	GLI3	ORPHA:672
HP:0006136	Bilateral postaxial polydactyly	1954	MEGF8	OMIM:614976
HP:0010241	Short proximal phalanx of finger	1280	COL2A1	OMIM:271700
HP:0010241	Short proximal phalanx of finger	8200	GDF5	OMIM:201250
HP:0010241	Short proximal phalanx of finger	56992	KIF15	ORPHA:261323
HP:0010241	Short proximal phalanx of finger	2261	FGFR3	ORPHA:15
HP:0010241	Short proximal phalanx of finger	2475	MTOR	OMIM:616638
HP:0010241	Short proximal phalanx of finger	3549	IHH	OMIM:607778
HP:0010241	Short proximal phalanx of finger	658	BMPR1B	OMIM:616849
HP:0009769	Bullet-shaped phalanges of the hand	79158	GNPTAB	OMIM:252500
HP:0009769	Bullet-shaped phalanges of the hand	4784	NFIX	OMIM:602535
HP:0006140	Premature fusion of phalangeal epiphyses	4256	MGP	OMIM:245150
HP:0010034	Short 1st metacarpal	2535	FZD2	OMIM:164745
HP:0010034	Short 1st metacarpal	2535	FZD2	ORPHA:93328
HP:0010034	Short 1st metacarpal	23476	BRD4	ORPHA:199
HP:0010034	Short 1st metacarpal	9126	SMC3	ORPHA:199
HP:0010034	Short 1st metacarpal	8243	SMC1A	ORPHA:199
HP:0010034	Short 1st metacarpal	25836	NIPBL	ORPHA:199
HP:0010034	Short 1st metacarpal	55869	HDAC8	ORPHA:199
HP:0010034	Short 1st metacarpal	5885	RAD21	ORPHA:199
HP:0010034	Short 1st metacarpal	90	ACVR1	OMIM:135100
HP:0010034	Short 1st metacarpal	57020	VPS35L	OMIM:619135
HP:0010034	Short 1st metacarpal	9241	NOG	OMIM:186570
HP:0010034	Short 1st metacarpal	9241	NOG	OMIM:611377
HP:0010034	Short 1st metacarpal	8200	GDF5	ORPHA:63442
HP:0010034	Short 1st metacarpal	8200	GDF5	OMIM:113100
HP:0010034	Short 1st metacarpal	57167	SALL4	OMIM:147750
HP:0010034	Short 1st metacarpal	3209	HOXA13	OMIM:140000
HP:0010034	Short 1st metacarpal	3209	HOXA13	ORPHA:2438
HP:0010034	Short 1st metacarpal	658	BMPR1B	OMIM:609441
HP:0010034	Short 1st metacarpal	10847	SRCAP	OMIM:136140
HP:0010034	Short 1st metacarpal	55215	FANCI	OMIM:609053
HP:0010034	Short 1st metacarpal	6662	SOX9	OMIM:114290
HP:0010034	Short 1st metacarpal	5116	PCNT	OMIM:210720
HP:0010034	Short 1st metacarpal	26040	SETBP1	OMIM:269150
HP:0010034	Short 1st metacarpal	26040	SETBP1	ORPHA:798
HP:0010034	Short 1st metacarpal	388015	RTL1	ORPHA:96334
HP:0010034	Short 1st metacarpal	8788	DLK1	ORPHA:96334
HP:0010034	Short 1st metacarpal	55384	MEG3	ORPHA:96334
HP:0010034	Short 1st metacarpal	3911	LAMA5	OMIM:620076
HP:0010034	Short 1st metacarpal	124583	CANT1	OMIM:251450
HP:0009495	Pseudoepiphysis of the 2nd finger	8200	GDF5	ORPHA:93384
HP:0009495	Pseudoepiphysis of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009495	Pseudoepiphysis of the 2nd finger	658	BMPR1B	ORPHA:93384
HP:0006143	Abnormal finger flexion crease	7169	TPM2	OMIM:108120
HP:0006143	Abnormal finger flexion crease	4010	LMX1B	OMIM:161200
HP:0006143	Abnormal finger flexion crease	3549	IHH	OMIM:112500
HP:0006143	Abnormal finger flexion crease	3239	HOXD13	OMIM:186300
HP:0006143	Abnormal finger flexion crease	50515	CHST11	OMIM:618167
HP:0006143	Abnormal finger flexion crease	11011	TLK2	OMIM:618050
HP:0006143	Abnormal finger flexion crease	5932	RBBP8	OMIM:251255
HP:0006143	Abnormal finger flexion crease	4233	MET	OMIM:620019
HP:0006143	Abnormal finger flexion crease	6913	TBX15	OMIM:260660
HP:0006143	Abnormal finger flexion crease	9241	NOG	OMIM:611377
HP:0006143	Abnormal finger flexion crease	4621	MYH3	OMIM:618469
HP:0006143	Abnormal finger flexion crease	1278	COL1A2	ORPHA:230851
HP:0006143	Abnormal finger flexion crease	7136	TNNI2	OMIM:601680
HP:0006143	Abnormal finger flexion crease	63895	PIEZO2	OMIM:108145
HP:0006143	Abnormal finger flexion crease	545	ATR	OMIM:210600
HP:0006143	Abnormal finger flexion crease	7476	WNT7A	OMIM:228930
HP:0006143	Abnormal finger flexion crease	8200	GDF5	OMIM:615298
HP:0006143	Abnormal finger flexion crease	4920	ROR2	OMIM:268310
HP:0006143	Abnormal finger flexion crease	5648	MASP1	OMIM:257920
HP:0006145	Central Y-shaped metacarpal	65250	CPLANE1	OMIM:277170
HP:0006145	Central Y-shaped metacarpal	65250	CPLANE1	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	27152	INTU	OMIM:617926
HP:0006145	Central Y-shaped metacarpal	10210	TOPORS	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	9851	KIAA0753	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	26123	TCTN3	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	5147	PDE6D	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	51259	TMEM216	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	8481	OFD1	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	317662	FAM149B1	ORPHA:2754
HP:0006145	Central Y-shaped metacarpal	374654	KIF7	ORPHA:2754
HP:0006146	Broad metacarpal epiphyses	3549	IHH	OMIM:112500
HP:0006147	Progressive fusion 2nd-5th pip joints	9241	NOG	OMIM:186570
HP:0006149	Increased laxity of fingers	1311	COMP	ORPHA:750
HP:0006149	Increased laxity of fingers	1291	COL6A1	OMIM:254090
HP:0006149	Increased laxity of fingers	1291	COL6A1	ORPHA:75840
HP:0006149	Increased laxity of fingers	1292	COL6A2	OMIM:254090
HP:0006149	Increased laxity of fingers	1292	COL6A2	ORPHA:75840
HP:0006149	Increased laxity of fingers	1293	COL6A3	OMIM:254090
HP:0006149	Increased laxity of fingers	1293	COL6A3	ORPHA:75840
HP:0006149	Increased laxity of fingers	1303	COL12A1	ORPHA:75840
HP:0006150	Swan neck-like deformities of the fingers	5830	PEX5	OMIM:616716
HP:0006150	Swan neck-like deformities of the fingers	6583	SLC22A4	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	26191	PTPN22	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	4261	CIITA	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	51744	CD244	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	4795	NFKBIL1	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	3586	IL10	OMIM:180300
HP:0006150	Swan neck-like deformities of the fingers	56098	PCDHGC4	OMIM:619880
HP:0006150	Swan neck-like deformities of the fingers	26278	SACS	OMIM:270550
HP:0009778	Short thumb	57167	SALL4	ORPHA:959
HP:0009778	Short thumb	2316	FLNA	ORPHA:1826
HP:0009778	Short thumb	6885	MAP3K7	ORPHA:1826
HP:0009778	Short thumb	658	BMPR1B	OMIM:616849
HP:0009778	Short thumb	5293	PIK3CD	ORPHA:221139
HP:0009778	Short thumb	90417	KNSTRN	ORPHA:221139
HP:0009778	Short thumb	2778	GNAS	ORPHA:79445
HP:0009778	Short thumb	5727	PTCH1	OMIM:109400
HP:0009778	Short thumb	3756	KCNH1	ORPHA:420561
HP:0009778	Short thumb	1280	COL2A1	OMIM:271700
HP:0009778	Short thumb	100151683	RNU4ATAC	OMIM:210710
HP:0009778	Short thumb	2263	FGFR2	OMIM:149730
HP:0009778	Short thumb	2263	FGFR2	ORPHA:2363
HP:0009778	Short thumb	23028	KDM1A	OMIM:616728
HP:0009778	Short thumb	23028	KDM1A	ORPHA:477993
HP:0009778	Short thumb	9401	RECQL4	OMIM:268400
HP:0009778	Short thumb	29998	BICRA	OMIM:619325
HP:0009778	Short thumb	2175	FANCA	OMIM:227650
HP:0009778	Short thumb	1723	DHODH	OMIM:263750
HP:0009778	Short thumb	1836	SLC26A2	ORPHA:93307
HP:0009778	Short thumb	83990	BRIP1	OMIM:609054
HP:0009778	Short thumb	526	ATP6V1B2	ORPHA:79499
HP:0009778	Short thumb	4038	LRP4	ORPHA:3258
HP:0009778	Short thumb	324	APC	ORPHA:3258
HP:0009778	Short thumb	3549	IHH	ORPHA:93388
HP:0009778	Short thumb	2188	FANCF	OMIM:603467
HP:0009778	Short thumb	176	ACAN	ORPHA:435804
HP:0009778	Short thumb	176	ACAN	OMIM:165800
HP:0009778	Short thumb	54880	BCOR	ORPHA:2712
HP:0009778	Short thumb	157570	ESCO2	ORPHA:2319
HP:0009778	Short thumb	7020	TFAP2A	OMIM:113620
HP:0009778	Short thumb	1717	DHCR7	OMIM:270400
HP:0009778	Short thumb	727857	BHLHA9	ORPHA:157801
HP:0009778	Short thumb	10815	CPLX1	ORPHA:280
HP:0009778	Short thumb	10815	CPLX1	OMIM:194190
HP:0009778	Short thumb	54872	PIGG	ORPHA:280
HP:0009778	Short thumb	7469	NELFA	ORPHA:280
HP:0009778	Short thumb	1487	CTBP1	ORPHA:280
HP:0009778	Short thumb	1487	CTBP1	OMIM:194190
HP:0009778	Short thumb	3954	LETM1	ORPHA:280
HP:0009778	Short thumb	3954	LETM1	OMIM:194190
HP:0009778	Short thumb	7468	NSD2	ORPHA:280
HP:0009778	Short thumb	7468	NSD2	OMIM:194190
HP:0009778	Short thumb	2178	FANCE	OMIM:600901
HP:0009778	Short thumb	4613	MYCN	OMIM:164280
HP:0009778	Short thumb	4613	MYCN	ORPHA:391641
HP:0009778	Short thumb	55636	CHD7	OMIM:214800
HP:0009778	Short thumb	25942	SIN3A	OMIM:613406
HP:0009778	Short thumb	53834	FGFRL1	OMIM:194190
HP:0009778	Short thumb	6135	RPL11	OMIM:612562
HP:0009778	Short thumb	6135	RPL11	ORPHA:124
HP:0009778	Short thumb	1387	CREBBP	OMIM:180849
HP:0009778	Short thumb	2033	EP300	OMIM:180849
HP:0009778	Short thumb	6125	RPL5	OMIM:612561
HP:0009778	Short thumb	6125	RPL5	ORPHA:124
HP:0009778	Short thumb	91461	PKDCC	OMIM:618821
HP:0009778	Short thumb	80036	TRPM3	OMIM:620224
HP:0009778	Short thumb	2255	FGF10	OMIM:620193
HP:0009778	Short thumb	2255	FGF10	ORPHA:2363
HP:0009778	Short thumb	374879	ZNF699	OMIM:619488
HP:0009778	Short thumb	7750	ZMYM2	OMIM:619522
HP:0009778	Short thumb	2261	FGFR3	ORPHA:2363
HP:0009778	Short thumb	79728	PALB2	OMIM:610832
HP:0009778	Short thumb	407975	MIR17HG	ORPHA:391646
HP:0009778	Short thumb	675	BRCA2	OMIM:605724
HP:0009778	Short thumb	2177	FANCD2	OMIM:227646
HP:0009778	Short thumb	5889	RAD51C	OMIM:613390
HP:0009778	Short thumb	50515	CHST11	OMIM:618167
HP:0009778	Short thumb	2176	FANCC	OMIM:227645
HP:0009778	Short thumb	4256	MGP	OMIM:245150
HP:0009778	Short thumb	9968	MED12	OMIM:300895
HP:0009778	Short thumb	84823	LMNB2	OMIM:616540
HP:0009778	Short thumb	2200	FBN1	ORPHA:3449
HP:0009778	Short thumb	4053	LTBP2	ORPHA:3449
HP:0009778	Short thumb	81794	ADAMTS10	ORPHA:3449
HP:0009778	Short thumb	2260	FGFR1	OMIM:166250
HP:0009778	Short thumb	84464	SLX4	OMIM:613951
HP:0009778	Short thumb	5718	PSMD12	OMIM:617516
HP:0009778	Short thumb	374969	SVBP	OMIM:618569
HP:0009778	Short thumb	9939	RBM8A	OMIM:274000
HP:0009778	Short thumb	6223	RPS19	OMIM:105650
HP:0009778	Short thumb	6223	RPS19	ORPHA:124
HP:0009778	Short thumb	9896	FIG4	OMIM:216340
HP:0009778	Short thumb	6138	RPL15	ORPHA:124
HP:0009778	Short thumb	6229	RPS24	ORPHA:124
HP:0009778	Short thumb	6204	RPS10	ORPHA:124
HP:0009778	Short thumb	6224	RPS20	ORPHA:124
HP:0009778	Short thumb	6165	RPL35A	ORPHA:124
HP:0009778	Short thumb	2623	GATA1	ORPHA:124
HP:0009778	Short thumb	6232	RPS27	ORPHA:124
HP:0009778	Short thumb	6231	RPS26	ORPHA:124
HP:0009778	Short thumb	11224	RPL35	ORPHA:124
HP:0009778	Short thumb	6160	RPL31	ORPHA:124
HP:0009778	Short thumb	6218	RPS17	ORPHA:124
HP:0009778	Short thumb	6201	RPS7	ORPHA:124
HP:0009778	Short thumb	6155	RPL27	ORPHA:124
HP:0009778	Short thumb	6154	RPL26	ORPHA:124
HP:0009778	Short thumb	6210	RPS15A	ORPHA:124
HP:0009778	Short thumb	90121	TSR2	ORPHA:124
HP:0009778	Short thumb	6141	RPL18	ORPHA:124
HP:0009778	Short thumb	6235	RPS29	ORPHA:124
HP:0009778	Short thumb	6234	RPS28	ORPHA:124
HP:0009778	Short thumb	51816	ADA2	ORPHA:124
HP:0009778	Short thumb	26100	WIPI2	OMIM:618453
HP:0009778	Short thumb	9775	EIF4A3	OMIM:268305
HP:0009778	Short thumb	54101	RIPK4	OMIM:263650
HP:0009778	Short thumb	29089	UBE2T	OMIM:616435
HP:0009778	Short thumb	2535	FZD2	OMIM:164745
HP:0009778	Short thumb	2535	FZD2	ORPHA:93328
HP:0009778	Short thumb	23476	BRD4	ORPHA:199
HP:0009778	Short thumb	9126	SMC3	ORPHA:199
HP:0009778	Short thumb	8243	SMC1A	ORPHA:199
HP:0009778	Short thumb	25836	NIPBL	ORPHA:199
HP:0009778	Short thumb	55869	HDAC8	ORPHA:199
HP:0009778	Short thumb	5885	RAD21	ORPHA:199
HP:0009778	Short thumb	90	ACVR1	OMIM:135100
HP:0009778	Short thumb	57020	VPS35L	OMIM:619135
HP:0009778	Short thumb	9241	NOG	OMIM:186570
HP:0009778	Short thumb	9241	NOG	OMIM:611377
HP:0009778	Short thumb	8200	GDF5	ORPHA:63442
HP:0009778	Short thumb	8200	GDF5	OMIM:113100
HP:0009778	Short thumb	3209	HOXA13	OMIM:140000
HP:0009778	Short thumb	3209	HOXA13	ORPHA:2438
HP:0009778	Short thumb	10847	SRCAP	OMIM:136140
HP:0009778	Short thumb	55215	FANCI	OMIM:609053
HP:0009778	Short thumb	6662	SOX9	OMIM:114290
HP:0009778	Short thumb	5116	PCNT	OMIM:210720
HP:0009778	Short thumb	26040	SETBP1	OMIM:269150
HP:0009778	Short thumb	26040	SETBP1	ORPHA:798
HP:0009778	Short thumb	388015	RTL1	ORPHA:96334
HP:0009778	Short thumb	8788	DLK1	ORPHA:96334
HP:0009778	Short thumb	55384	MEG3	ORPHA:96334
HP:0009778	Short thumb	3911	LAMA5	OMIM:620076
HP:0009778	Short thumb	124583	CANT1	OMIM:251450
HP:0009164	Abnormal calcification of the carpal bones	23592	LEMD3	ORPHA:166119
HP:0009164	Abnormal calcification of the carpal bones	10682	EBP	OMIM:302960
HP:0009164	Abnormal calcification of the carpal bones	10568	SLC34A2	ORPHA:60025
HP:0009164	Abnormal calcification of the carpal bones	4921	DDR2	OMIM:271665
HP:0009164	Abnormal calcification of the carpal bones	5167	ENPP1	ORPHA:51608
HP:0009164	Abnormal calcification of the carpal bones	368	ABCC6	ORPHA:51608
HP:0006155	Long phalanx of finger	3835	KIF22	OMIM:603546
HP:0006155	Long phalanx of finger	2316	FLNA	OMIM:305620
HP:0006155	Long phalanx of finger	64324	NSD1	OMIM:117550
HP:0001187	Hyperextensibility of the finger joints	6197	RPS6KA3	OMIM:303600
HP:0001187	Hyperextensibility of the finger joints	9791	PTDSS1	OMIM:151050
HP:0001187	Hyperextensibility of the finger joints	2245	FGD1	OMIM:305400
HP:0001187	Hyperextensibility of the finger joints	9759	HDAC4	OMIM:619797
HP:0001187	Hyperextensibility of the finger joints	3756	KCNH1	OMIM:135500
HP:0001187	Hyperextensibility of the finger joints	57479	PRR12	OMIM:619539
HP:0001187	Hyperextensibility of the finger joints	6611	SMS	OMIM:309583
HP:0001187	Hyperextensibility of the finger joints	673	BRAF	OMIM:115150
HP:0001187	Hyperextensibility of the finger joints	91461	PKDCC	OMIM:618821
HP:0001187	Hyperextensibility of the finger joints	9968	MED12	OMIM:309520
HP:0001187	Hyperextensibility of the finger joints	92344	GORAB	OMIM:231070
HP:0001187	Hyperextensibility of the finger joints	54499	TMCO1	OMIM:213980
HP:0001187	Hyperextensibility of the finger joints	387733	IFITM5	OMIM:610967
HP:0001187	Hyperextensibility of the finger joints	51633	OTUD6B	ORPHA:505237
HP:0001187	Hyperextensibility of the finger joints	23114	NFASC	OMIM:618356
HP:0001187	Hyperextensibility of the finger joints	1289	COL5A1	OMIM:130000
HP:0001187	Hyperextensibility of the finger joints	54872	PIGG	ORPHA:488635
HP:0001187	Hyperextensibility of the finger joints	1278	COL1A2	OMIM:617821
HP:0001187	Hyperextensibility of the finger joints	427	ASAH1	OMIM:228000
HP:0001187	Hyperextensibility of the finger joints	9373	PLAA	ORPHA:521426
HP:0001187	Hyperextensibility of the finger joints	2783	GNB2	OMIM:619503
HP:0001187	Hyperextensibility of the finger joints	3265	HRAS	OMIM:218040
HP:0001187	Hyperextensibility of the finger joints	2200	FBN1	OMIM:616914
HP:0001187	Hyperextensibility of the finger joints	121340	SP7	OMIM:613849
HP:0001187	Hyperextensibility of the finger joints	4010	LMX1B	ORPHA:2614
HP:0006159	Mesoaxial hand polydactyly	7021	TFAP2B	ORPHA:46627
HP:0006159	Mesoaxial hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0006159	Mesoaxial hand polydactyly	8195	MKKS	OMIM:236700
HP:0006159	Mesoaxial hand polydactyly	3239	HOXD13	OMIM:186000
HP:0006159	Mesoaxial hand polydactyly	51776	MAP3K20	OMIM:616890
HP:0006159	Mesoaxial hand polydactyly	317662	FAM149B1	OMIM:618763
HP:0006159	Mesoaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0006159	Mesoaxial hand polydactyly	2737	GLI3	ORPHA:672
HP:0006159	Mesoaxial hand polydactyly	22856	CHSY1	ORPHA:363417
HP:0006159	Mesoaxial hand polydactyly	7291	TWIST1	OMIM:101400
HP:0006159	Mesoaxial hand polydactyly	2263	FGFR2	OMIM:101400
HP:0032001	Pink urine	7390	UROS	OMIM:263700
HP:0032003	Green urine	644	BLVRA	OMIM:614156
HP:0032005	Hemidystonia	51204	TACO1	OMIM:619052
HP:0032005	Hemidystonia	5575	PRKAR1B	OMIM:619680
HP:0032005	Hemidystonia	10382	TUBB4A	OMIM:128101
HP:0032005	Hemidystonia	51102	MECR	ORPHA:508093
HP:0032007	Maceration	8710	SERPINB7	OMIM:615598
HP:0032009	Infantile constant exotropia	4841	NONO	ORPHA:466791
HP:0006160	Irregular metacarpals	2316	FLNA	OMIM:304120
HP:0006161	Short metacarpals with rounded proximal ends	9719	ADAMTSL2	OMIM:231050
HP:0006162	Soft tissue swelling of interphalangeal joints	79158	GNPTAB	OMIM:252600
HP:0006163	Enlarged metacarpophalangeal joints	8838	CCN6	OMIM:208230
HP:0006165	Proportionate shortening of all digits	3549	IHH	OMIM:112500
HP:0006165	Proportionate shortening of all digits	23556	PIGN	ORPHA:280633
HP:0009852	Broad proximal phalanges of the hand	1300	COL10A1	ORPHA:174
HP:0009852	Broad proximal phalanges of the hand	6792	CDKL5	ORPHA:505652
HP:0009852	Broad proximal phalanges of the hand	2778	GNAS	ORPHA:79443
HP:0032011	Heterophoria	6899	TBX1	OMIM:188400
HP:0032011	Heterophoria	51102	MECR	OMIM:617282
HP:0032011	Heterophoria	51102	MECR	ORPHA:508093
HP:0032011	Heterophoria	6334	SCN8A	OMIM:614306
HP:0032011	Heterophoria	3211	HOXB1	OMIM:614744
HP:0032011	Heterophoria	57498	KIDINS220	ORPHA:521390
HP:0032011	Heterophoria	2702	GJA5	OMIM:612474
HP:0032011	Heterophoria	2703	GJA8	OMIM:612474
HP:0032011	Heterophoria	27125	AFF4	ORPHA:444077
HP:0032011	Heterophoria	57531	HACE1	ORPHA:464282
HP:0032011	Heterophoria	60684	TRAPPC11	ORPHA:369840
HP:0032012	Heterotropia	8322	FZD4	OMIM:133780
HP:0032012	Heterotropia	4041	LRP5	OMIM:133780
HP:0032012	Heterotropia	9949	AMMECR1	OMIM:300990
HP:0032012	Heterotropia	6095	RORA	OMIM:618060
HP:0032012	Heterotropia	50964	SOST	OMIM:269500
HP:0032012	Heterotropia	10128	LRPPRC	OMIM:220111
HP:0032012	Heterotropia	340533	NEXMIF	OMIM:300912
HP:0032012	Heterotropia	340533	NEXMIF	ORPHA:85277
HP:0032012	Heterotropia	5393	EXOSC9	OMIM:618065
HP:0032012	Heterotropia	5393	EXOSC9	ORPHA:2254
HP:0032012	Heterotropia	2895	GRID2	OMIM:616204
HP:0032012	Heterotropia	50484	RRM2B	ORPHA:329336
HP:0032012	Heterotropia	246243	RNASEH1	ORPHA:329336
HP:0032012	Heterotropia	22800	RRAS2	OMIM:618624
HP:0032012	Heterotropia	51259	TMEM216	OMIM:608091
HP:0032012	Heterotropia	51259	TMEM216	ORPHA:2754
HP:0032012	Heterotropia	5428	POLG	OMIM:258450
HP:0032012	Heterotropia	79796	ALG9	OMIM:608776
HP:0032012	Heterotropia	79796	ALG9	ORPHA:79328
HP:0032012	Heterotropia	9839	ZEB2	OMIM:235730
HP:0032012	Heterotropia	7681	MKRN3	OMIM:176270
HP:0032012	Heterotropia	3653	IPW	OMIM:176270
HP:0032012	Heterotropia	54551	MAGEL2	OMIM:176270
HP:0032012	Heterotropia	54551	MAGEL2	ORPHA:398069
HP:0032012	Heterotropia	54551	MAGEL2	OMIM:615547
HP:0032012	Heterotropia	791114	PWRN1	OMIM:176270
HP:0032012	Heterotropia	100033413	SNORD116-1	OMIM:176270
HP:0032012	Heterotropia	8924	HERC2	OMIM:176270
HP:0032012	Heterotropia	145624	PWAR1	OMIM:176270
HP:0032012	Heterotropia	23742	NPAP1	OMIM:176270
HP:0032012	Heterotropia	338433	SNORD115-1	OMIM:176270
HP:0032012	Heterotropia	1303	COL12A1	ORPHA:75840
HP:0032012	Heterotropia	1291	COL6A1	ORPHA:75840
HP:0032012	Heterotropia	1292	COL6A2	ORPHA:75840
HP:0032012	Heterotropia	1293	COL6A3	ORPHA:75840
HP:0032012	Heterotropia	6720	SREBF1	OMIM:158310
HP:0032012	Heterotropia	5575	PRKAR1B	OMIM:619680
HP:0032012	Heterotropia	2581	GALC	ORPHA:206443
HP:0032012	Heterotropia	388015	RTL1	ORPHA:254528
HP:0032012	Heterotropia	8788	DLK1	ORPHA:254528
HP:0032012	Heterotropia	55384	MEG3	ORPHA:254528
HP:0032012	Heterotropia	5830	PEX5	OMIM:202370
HP:0032012	Heterotropia	27245	AHDC1	ORPHA:412069
HP:0032012	Heterotropia	27245	AHDC1	OMIM:615829
HP:0032012	Heterotropia	3149	HMGB3	OMIM:300915
HP:0032012	Heterotropia	2911	GRM1	OMIM:614831
HP:0032012	Heterotropia	2911	GRM1	ORPHA:324262
HP:0032012	Heterotropia	10978	CLP1	OMIM:615803
HP:0032012	Heterotropia	64221	ROBO3	OMIM:607313
HP:0032012	Heterotropia	3778	KCNMA1	ORPHA:79137
HP:0032012	Heterotropia	220202	ATOH7	OMIM:221900
HP:0032012	Heterotropia	55777	MBD5	OMIM:156200
HP:0032012	Heterotropia	1301	COL11A1	OMIM:154780
HP:0032012	Heterotropia	84992	PIGY	ORPHA:247262
HP:0032012	Heterotropia	84720	PIGO	ORPHA:247262
HP:0032012	Heterotropia	93210	PGAP3	ORPHA:247262
HP:0032012	Heterotropia	284098	PIGW	ORPHA:247262
HP:0032012	Heterotropia	27315	PGAP2	ORPHA:247262
HP:0032012	Heterotropia	55650	PIGV	ORPHA:247262
HP:0032012	Heterotropia	9487	PIGL	ORPHA:247262
HP:0032012	Heterotropia	9630	GNA14	ORPHA:1063
HP:0032012	Heterotropia	56915	EXOSC5	OMIM:619576
HP:0032012	Heterotropia	64324	NSD1	OMIM:117550
HP:0032012	Heterotropia	64207	IRF2BPL	OMIM:618088
HP:0032012	Heterotropia	5119	CHMP1A	OMIM:614961
HP:0032012	Heterotropia	816	CAMK2B	OMIM:617799
HP:0032012	Heterotropia	5422	POLA1	OMIM:301030
HP:0032012	Heterotropia	191	AHCY	ORPHA:88618
HP:0032012	Heterotropia	10484	SEC23A	OMIM:607812
HP:0032012	Heterotropia	164	AP1G1	OMIM:619467
HP:0032012	Heterotropia	84342	COG8	OMIM:611182
HP:0032012	Heterotropia	55714	TENM3	OMIM:615145
HP:0032012	Heterotropia	4761	NEUROD2	OMIM:618374
HP:0032012	Heterotropia	5144	PDE4D	ORPHA:439822
HP:0032012	Heterotropia	23065	EMC1	OMIM:616875
HP:0032012	Heterotropia	23065	EMC1	ORPHA:480898
HP:0032012	Heterotropia	26227	PHGDH	ORPHA:79351
HP:0032012	Heterotropia	5373	PMM2	OMIM:212065
HP:0032012	Heterotropia	5373	PMM2	ORPHA:79318
HP:0032012	Heterotropia	2743	GLRB	OMIM:614619
HP:0032012	Heterotropia	9851	KIAA0753	OMIM:619476
HP:0032012	Heterotropia	9851	KIAA0753	ORPHA:2754
HP:0032012	Heterotropia	7874	USP7	ORPHA:500055
HP:0032012	Heterotropia	57498	KIDINS220	OMIM:617296
HP:0032012	Heterotropia	65250	CPLANE1	OMIM:277170
HP:0032012	Heterotropia	65250	CPLANE1	ORPHA:2754
HP:0032012	Heterotropia	1182	CLCN3	OMIM:619512
HP:0032012	Heterotropia	8270	LAGE3	OMIM:301006
HP:0032012	Heterotropia	51604	PIGT	OMIM:615398
HP:0032012	Heterotropia	5457	POU4F1	OMIM:619352
HP:0032012	Heterotropia	55773	TBC1D23	OMIM:617695
HP:0032012	Heterotropia	55699	IARS2	OMIM:616007
HP:0032012	Heterotropia	8363	H4C11	OMIM:619759
HP:0032012	Heterotropia	57514	ARHGAP31	OMIM:100300
HP:0032012	Heterotropia	11340	EXOSC8	ORPHA:2254
HP:0032012	Heterotropia	23287	AGTPBP1	ORPHA:2254
HP:0032012	Heterotropia	51010	EXOSC3	ORPHA:2254
HP:0032012	Heterotropia	7443	VRK1	ORPHA:2254
HP:0032012	Heterotropia	285175	UNC80	OMIM:616801
HP:0032012	Heterotropia	285175	UNC80	ORPHA:371364
HP:0032012	Heterotropia	3211	HOXB1	OMIM:614744
HP:0032012	Heterotropia	259232	NALCN	ORPHA:371364
HP:0032012	Heterotropia	259232	NALCN	OMIM:616266
HP:0032012	Heterotropia	1528	CYB5A	ORPHA:621
HP:0032012	Heterotropia	1727	CYB5R3	ORPHA:621
HP:0032012	Heterotropia	5728	PTEN	ORPHA:101070
HP:0032012	Heterotropia	85365	ALG2	ORPHA:79326
HP:0032012	Heterotropia	10682	EBP	OMIM:300960
HP:0032012	Heterotropia	55210	ATAD3A	ORPHA:496790
HP:0032012	Heterotropia	55210	ATAD3A	OMIM:617183
HP:0032012	Heterotropia	23556	PIGN	ORPHA:280633
HP:0032012	Heterotropia	6857	SYT1	ORPHA:522077
HP:0032012	Heterotropia	84343	HPS3	OMIM:614072
HP:0032012	Heterotropia	113179	ADAT3	OMIM:615286
HP:0032012	Heterotropia	57688	ZSWIM6	OMIM:617865
HP:0032012	Heterotropia	163175	LGI4	OMIM:617468
HP:0032012	Heterotropia	60482	SLC5A7	ORPHA:98914
HP:0032012	Heterotropia	4649	MYO9A	ORPHA:98914
HP:0032012	Heterotropia	1305	COL13A1	ORPHA:98914
HP:0032012	Heterotropia	1103	CHAT	ORPHA:98914
HP:0032012	Heterotropia	6576	SLC25A1	ORPHA:98914
HP:0032012	Heterotropia	6843	VAMP1	ORPHA:98914
HP:0032012	Heterotropia	375790	AGRN	ORPHA:98914
HP:0032012	Heterotropia	127833	SYT2	ORPHA:98914
HP:0032012	Heterotropia	6572	SLC18A3	ORPHA:98914
HP:0032012	Heterotropia	6616	SNAP25	ORPHA:98914
HP:0032012	Heterotropia	471	ATIC	OMIM:608688
HP:0032012	Heterotropia	84628	NTNG2	OMIM:618718
HP:0032012	Heterotropia	1650	DDOST	ORPHA:300536
HP:0032012	Heterotropia	5295	PIK3R1	OMIM:269880
HP:0032012	Heterotropia	54802	TRIT1	OMIM:617873
HP:0032012	Heterotropia	23154	NCDN	OMIM:619373
HP:0032012	Heterotropia	55084	SOBP	OMIM:613671
HP:0032012	Heterotropia	1284	COL4A2	OMIM:614483
HP:0032012	Heterotropia	84168	ANTXR1	OMIM:230740
HP:0032012	Heterotropia	7994	KAT6A	OMIM:616268
HP:0032012	Heterotropia	23219	FBXO28	OMIM:619777
HP:0032012	Heterotropia	2961	GTF2E2	OMIM:616943
HP:0032012	Heterotropia	2961	GTF2E2	ORPHA:33364
HP:0032012	Heterotropia	404672	GTF2H5	ORPHA:33364
HP:0032012	Heterotropia	833	CARS1	ORPHA:33364
HP:0032012	Heterotropia	2068	ERCC2	ORPHA:33364
HP:0032012	Heterotropia	7737	RNF113A	ORPHA:33364
HP:0032012	Heterotropia	136647	MPLKIP	ORPHA:33364
HP:0032012	Heterotropia	6897	TARS1	ORPHA:33364
HP:0032012	Heterotropia	2071	ERCC3	ORPHA:33364
HP:0032012	Heterotropia	8813	DPM1	ORPHA:79322
HP:0032012	Heterotropia	10210	TOPORS	ORPHA:2754
HP:0032012	Heterotropia	26123	TCTN3	ORPHA:2754
HP:0032012	Heterotropia	5147	PDE6D	ORPHA:2754
HP:0032012	Heterotropia	8481	OFD1	ORPHA:2754
HP:0032012	Heterotropia	317662	FAM149B1	ORPHA:2754
HP:0032012	Heterotropia	374654	KIF7	ORPHA:2754
HP:0032012	Heterotropia	84978	FRMD5	OMIM:620094
HP:0032012	Heterotropia	9469	CHST3	OMIM:245600
HP:0032012	Heterotropia	26229	B3GAT3	OMIM:245600
HP:0032012	Heterotropia	129285	PPP1R21	OMIM:619383
HP:0032012	Heterotropia	2629	GBA1	OMIM:230900
HP:0032012	Heterotropia	23102	TBC1D2B	ORPHA:397973
HP:0032012	Heterotropia	84842	HPDL	OMIM:619026
HP:0032012	Heterotropia	55367	PIDD1	OMIM:619827
HP:0032012	Heterotropia	5813	PURA	OMIM:616158
HP:0032012	Heterotropia	84148	KAT8	OMIM:618974
HP:0032012	Heterotropia	4654	MYOD1	OMIM:618975
HP:0032012	Heterotropia	6935	ZEB1	ORPHA:98973
HP:0032012	Heterotropia	30813	VSX1	ORPHA:98973
HP:0032012	Heterotropia	58495	OVOL2	ORPHA:98973
HP:0032012	Heterotropia	79977	GRHL2	ORPHA:98973
HP:0032012	Heterotropia	1296	COL8A2	ORPHA:98973
HP:0032012	Heterotropia	9990	SLC12A6	OMIM:218000
HP:0032012	Heterotropia	10075	HUWE1	OMIM:309590
HP:0032012	Heterotropia	6535	SLC6A8	OMIM:300352
HP:0032012	Heterotropia	23394	ADNP	ORPHA:404448
HP:0032012	Heterotropia	104	ADARB1	OMIM:618862
HP:0032012	Heterotropia	6477	SIAH1	OMIM:619314
HP:0032012	Heterotropia	23135	KDM6B	OMIM:618505
HP:0032012	Heterotropia	7299	TYR	OMIM:203100
HP:0032012	Heterotropia	79912	PYROXD1	OMIM:617258
HP:0032012	Heterotropia	7355	SLC35A2	ORPHA:356961
HP:0032012	Heterotropia	1798	DPAGT1	OMIM:608093
HP:0032012	Heterotropia	1798	DPAGT1	ORPHA:86309
HP:0032012	Heterotropia	55325	UFSP2	OMIM:620028
HP:0032012	Heterotropia	23028	KDM1A	OMIM:616728
HP:0032012	Heterotropia	23028	KDM1A	ORPHA:477993
HP:0032012	Heterotropia	778	CACNA1F	OMIM:300071
HP:0032012	Heterotropia	91147	TMEM67	OMIM:602152
HP:0032012	Heterotropia	5631	PRPS1	ORPHA:423479
HP:0032012	Heterotropia	9227	LRAT	ORPHA:364055
HP:0032012	Heterotropia	55812	SPATA7	ORPHA:364055
HP:0032012	Heterotropia	6121	RPE65	ORPHA:364055
HP:0032012	Heterotropia	167691	LCA5	ORPHA:364055
HP:0032012	Heterotropia	6873	TAF2	ORPHA:397951
HP:0032012	Heterotropia	65993	MRPS34	OMIM:617664
HP:0032012	Heterotropia	2782	GNB1	OMIM:616973
HP:0032012	Heterotropia	998	CDC42	OMIM:616737
HP:0032012	Heterotropia	998	CDC42	ORPHA:487796
HP:0032012	Heterotropia	55768	NGLY1	ORPHA:404454
HP:0032012	Heterotropia	6660	SOX5	ORPHA:313892
HP:0032012	Heterotropia	473	RERE	ORPHA:494344
HP:0032012	Heterotropia	9289	ADGRG1	OMIM:606854
HP:0032012	Heterotropia	55906	ZC4H2	OMIM:314580
HP:0032012	Heterotropia	63035	BCORL1	OMIM:301029
HP:0032012	Heterotropia	10381	TUBB3	OMIM:600638
HP:0032012	Heterotropia	10352	WARS2	OMIM:617710
HP:0032012	Heterotropia	10352	WARS2	ORPHA:572798
HP:0032012	Heterotropia	91137	SLC25A46	OMIM:616505
HP:0032012	Heterotropia	36	ACADSB	OMIM:610006
HP:0032012	Heterotropia	22827	PUF60	ORPHA:508488
HP:0032012	Heterotropia	6045	RNF2	OMIM:619460
HP:0032012	Heterotropia	23418	CRB1	OMIM:600105
HP:0032012	Heterotropia	51651	PTRH2	ORPHA:456312
HP:0032012	Heterotropia	51651	PTRH2	OMIM:616263
HP:0032012	Heterotropia	5442	POLRMT	OMIM:619743
HP:0032012	Heterotropia	54681	P4HTM	OMIM:618493
HP:0032012	Heterotropia	3188	HNRNPH2	OMIM:300986
HP:0032012	Heterotropia	2783	GNB2	OMIM:619503
HP:0032012	Heterotropia	23268	DNMBP	OMIM:618415
HP:0032012	Heterotropia	9419	CRIPT	OMIM:615789
HP:0032012	Heterotropia	9997	SCO2	OMIM:604377
HP:0032012	Heterotropia	9997	SCO2	ORPHA:521411
HP:0032012	Heterotropia	1947	EFNB1	OMIM:304110
HP:0032012	Heterotropia	7025	NR2F1	ORPHA:401777
HP:0032012	Heterotropia	2261	FGFR3	OMIM:616482
HP:0032012	Heterotropia	2261	FGFR3	ORPHA:2363
HP:0032012	Heterotropia	57187	THOC2	OMIM:300957
HP:0032012	Heterotropia	149371	EXOC8	OMIM:619076
HP:0032012	Heterotropia	23126	POGZ	OMIM:616364
HP:0032012	Heterotropia	94137	RP1L1	OMIM:618826
HP:0032012	Heterotropia	9255	AIMP1	OMIM:260600
HP:0032012	Heterotropia	773	CACNA1A	ORPHA:2131
HP:0032012	Heterotropia	6507	SLC1A3	ORPHA:2131
HP:0032012	Heterotropia	477	ATP1A2	ORPHA:2131
HP:0032012	Heterotropia	478	ATP1A3	ORPHA:2131
HP:0032012	Heterotropia	90624	LYRM7	OMIM:615838
HP:0032012	Heterotropia	1282	COL4A1	OMIM:175780
HP:0032012	Heterotropia	80036	TRPM3	OMIM:620224
HP:0032012	Heterotropia	6134	RPL10	ORPHA:459070
HP:0032012	Heterotropia	6638	SNRPN	OMIM:105830
HP:0032012	Heterotropia	7337	UBE3A	OMIM:105830
HP:0032012	Heterotropia	1859	DYRK1A	ORPHA:464311
HP:0032012	Heterotropia	283209	PGM2L1	OMIM:620191
HP:0032012	Heterotropia	54880	BCOR	OMIM:300166
HP:0032012	Heterotropia	26503	SLC17A5	OMIM:604369
HP:0032012	Heterotropia	8567	MADD	OMIM:619005
HP:0032012	Heterotropia	388552	BLOC1S3	OMIM:614077
HP:0032012	Heterotropia	56098	PCDHGC4	OMIM:619880
HP:0032012	Heterotropia	2263	FGFR2	ORPHA:2363
HP:0032012	Heterotropia	2255	FGF10	ORPHA:2363
HP:0032012	Heterotropia	55717	WDR11	OMIM:620237
HP:0032012	Heterotropia	29920	PYCR2	OMIM:616420
HP:0032012	Heterotropia	6651	SON	ORPHA:500150
HP:0032012	Heterotropia	546	ATRX	OMIM:309580
HP:0032012	Heterotropia	57479	PRR12	OMIM:619539
HP:0032012	Heterotropia	83938	LRMDA	OMIM:615179
HP:0032012	Heterotropia	11152	WDR45	OMIM:615179
HP:0032012	Heterotropia	4088	SMAD3	OMIM:613795
HP:0032012	Heterotropia	4948	OCA2	OMIM:203200
HP:0032012	Heterotropia	4157	MC1R	OMIM:203200
HP:0032012	Heterotropia	7048	TGFBR2	OMIM:610168
HP:0032012	Heterotropia	79583	TMEM231	ORPHA:2752
HP:0032012	Heterotropia	64802	NMNAT1	OMIM:619260
HP:0032012	Heterotropia	3030	HADHA	ORPHA:5
HP:0032012	Heterotropia	120	ADD3	OMIM:617008
HP:0032012	Heterotropia	7046	TGFBR1	OMIM:609192
HP:0032012	Heterotropia	7490	WT1	OMIM:106210
HP:0032012	Heterotropia	5080	PAX6	OMIM:106210
HP:0032012	Heterotropia	1804	DPP6	ORPHA:2514
HP:0032012	Heterotropia	4001	LMNB1	ORPHA:2514
HP:0032012	Heterotropia	1185	CLCN6	OMIM:619173
HP:0032012	Heterotropia	8777	MPDZ	OMIM:615219
HP:0032012	Heterotropia	324	APC	ORPHA:99818
HP:0032012	Heterotropia	146167	SLC38A8	OMIM:609218
HP:0032012	Heterotropia	9578	CDC42BPB	OMIM:619841
HP:0032012	Heterotropia	5528	PPP2R5D	ORPHA:457279
HP:0032012	Heterotropia	92255	LMBRD2	OMIM:619694
HP:0032012	Heterotropia	6899	TBX1	OMIM:188400
HP:0032012	Heterotropia	10093	ARPC4	OMIM:620141
HP:0032012	Heterotropia	401	PHOX2A	OMIM:602078
HP:0032012	Heterotropia	4617	MYF5	OMIM:618155
HP:0032012	Heterotropia	6297	SALL2	OMIM:216820
HP:0032012	Heterotropia	2200	FBN1	OMIM:154700
HP:0032012	Heterotropia	51506	UFC1	OMIM:618076
HP:0032012	Heterotropia	23291	FBXW11	OMIM:618914
HP:0032012	Heterotropia	8367	H4C5	OMIM:619950
HP:0032012	Heterotropia	2590	GALNT2	OMIM:618885
HP:0032012	Heterotropia	224	ALDH3A2	OMIM:270200
HP:0032012	Heterotropia	55605	KIF21A	OMIM:135700
HP:0032012	Heterotropia	9968	MED12	OMIM:301068
HP:0032012	Heterotropia	4841	NONO	ORPHA:466791
HP:0032012	Heterotropia	10060	ABCC9	OMIM:619719
HP:0032016	Abnormal sputum	6340	SCNN1G	ORPHA:60033
HP:0032016	Abnormal sputum	1080	CFTR	ORPHA:60033
HP:0032016	Abnormal sputum	1080	CFTR	ORPHA:586
HP:0032016	Abnormal sputum	1080	CFTR	OMIM:219700
HP:0032016	Abnormal sputum	6337	SCNN1A	ORPHA:60033
HP:0032016	Abnormal sputum	6338	SCNN1B	ORPHA:60033
HP:0032016	Abnormal sputum	3123	HLA-DRB1	ORPHA:747
HP:0032016	Abnormal sputum	3123	HLA-DRB1	OMIM:181000
HP:0032016	Abnormal sputum	3123	HLA-DRB1	ORPHA:797
HP:0032016	Abnormal sputum	1493	CTLA4	ORPHA:900
HP:0032016	Abnormal sputum	26191	PTPN22	ORPHA:900
HP:0032016	Abnormal sputum	3115	HLA-DPB1	ORPHA:900
HP:0032016	Abnormal sputum	5657	PRTN3	ORPHA:900
HP:0032016	Abnormal sputum	3113	HLA-DPA1	ORPHA:900
HP:0032016	Abnormal sputum	1776	DNASE1L3	ORPHA:36412
HP:0032016	Abnormal sputum	6804	STX1A	ORPHA:586
HP:0032016	Abnormal sputum	2947	GSTM3	ORPHA:586
HP:0032016	Abnormal sputum	7040	TGFB1	ORPHA:586
HP:0032016	Abnormal sputum	7040	TGFB1	OMIM:219700
HP:0032016	Abnormal sputum	2729	GCLC	ORPHA:586
HP:0032016	Abnormal sputum	1084	CEACAM3	ORPHA:586
HP:0032016	Abnormal sputum	6556	SLC11A1	ORPHA:586
HP:0032016	Abnormal sputum	51164	DCTN4	ORPHA:586
HP:0032016	Abnormal sputum	3783	KCNN4	ORPHA:586
HP:0032016	Abnormal sputum	4282	MIF	ORPHA:586
HP:0032016	Abnormal sputum	1909	EDNRA	ORPHA:586
HP:0032016	Abnormal sputum	6550	SLC9A3	ORPHA:586
HP:0032016	Abnormal sputum	3162	HMOX1	ORPHA:586
HP:0032016	Abnormal sputum	115019	SLC26A9	ORPHA:586
HP:0032016	Abnormal sputum	3077	HFE	ORPHA:586
HP:0032016	Abnormal sputum	11254	SLC6A14	ORPHA:586
HP:0032016	Abnormal sputum	22802	CLCA4	ORPHA:586
HP:0032016	Abnormal sputum	4680	CEACAM6	ORPHA:586
HP:0032016	Abnormal sputum	1289	COL5A1	OMIM:130000
HP:0032016	Abnormal sputum	7248	TSC1	ORPHA:538
HP:0032016	Abnormal sputum	7248	TSC1	ORPHA:805
HP:0032016	Abnormal sputum	7249	TSC2	ORPHA:538
HP:0032016	Abnormal sputum	7249	TSC2	ORPHA:805
HP:0032016	Abnormal sputum	1281	COL3A1	OMIM:130050
HP:0032016	Abnormal sputum	1281	COL3A1	ORPHA:286
HP:0032016	Abnormal sputum	2658	GDF2	ORPHA:774
HP:0032016	Abnormal sputum	94	ACVRL1	ORPHA:774
HP:0032016	Abnormal sputum	4089	SMAD4	ORPHA:774
HP:0032016	Abnormal sputum	4089	SMAD4	ORPHA:91387
HP:0032016	Abnormal sputum	2022	ENG	ORPHA:774
HP:0032016	Abnormal sputum	2022	ENG	OMIM:187300
HP:0032016	Abnormal sputum	2212	FCGR2A	OMIM:219700
HP:0032016	Abnormal sputum	1290	COL5A2	OMIM:130010
HP:0032016	Abnormal sputum	56244	BTNL2	OMIM:612387
HP:0032016	Abnormal sputum	56244	BTNL2	ORPHA:797
HP:0032016	Abnormal sputum	3458	IFNG	ORPHA:805
HP:0032016	Abnormal sputum	3593	IL12B	ORPHA:3287
HP:0032016	Abnormal sputum	3106	HLA-B	ORPHA:3287
HP:0032016	Abnormal sputum	3106	HLA-B	ORPHA:117
HP:0032016	Abnormal sputum	6945	MLX	ORPHA:3287
HP:0032016	Abnormal sputum	2153	F5	ORPHA:326
HP:0032016	Abnormal sputum	440275	EIF2AK4	ORPHA:199241
HP:0032016	Abnormal sputum	10568	SLC34A2	ORPHA:60025
HP:0032016	Abnormal sputum	55340	GIMAP5	OMIM:619463
HP:0032016	Abnormal sputum	84818	IL17RC	ORPHA:1334
HP:0032016	Abnormal sputum	64581	CLEC7A	ORPHA:1334
HP:0032016	Abnormal sputum	23765	IL17RA	ORPHA:1334
HP:0032016	Abnormal sputum	10758	TRAF3IP2	ORPHA:1334
HP:0032016	Abnormal sputum	112744	IL17F	ORPHA:1334
HP:0032016	Abnormal sputum	4629	MYH11	ORPHA:91387
HP:0032016	Abnormal sputum	7046	TGFBR1	ORPHA:91387
HP:0032016	Abnormal sputum	7048	TGFBR2	ORPHA:91387
HP:0032016	Abnormal sputum	4015	LOX	ORPHA:91387
HP:0032016	Abnormal sputum	4087	SMAD2	ORPHA:91387
HP:0032016	Abnormal sputum	7043	TGFB3	ORPHA:91387
HP:0032016	Abnormal sputum	4088	SMAD3	ORPHA:91387
HP:0032016	Abnormal sputum	7042	TGFB2	ORPHA:91387
HP:0032016	Abnormal sputum	2200	FBN1	ORPHA:91387
HP:0032016	Abnormal sputum	59	ACTA2	ORPHA:91387
HP:0032016	Abnormal sputum	5592	PRKG1	ORPHA:91387
HP:0032016	Abnormal sputum	2301	FOXE3	ORPHA:91387
HP:0032016	Abnormal sputum	4144	MAT2A	ORPHA:91387
HP:0032016	Abnormal sputum	23493	HEY2	ORPHA:91387
HP:0032016	Abnormal sputum	8076	MFAP5	ORPHA:91387
HP:0032016	Abnormal sputum	4638	MYLK	ORPHA:91387
HP:0032016	Abnormal sputum	2006	ELN	ORPHA:91387
HP:0032016	Abnormal sputum	7092	TLL1	ORPHA:99106
HP:0032016	Abnormal sputum	149233	IL23R	ORPHA:117
HP:0032016	Abnormal sputum	6775	STAT4	ORPHA:117
HP:0032016	Abnormal sputum	3586	IL10	ORPHA:117
HP:0032016	Abnormal sputum	4210	MEFV	ORPHA:117
HP:0032016	Abnormal sputum	1230	CCR1	ORPHA:117
HP:0032016	Abnormal sputum	355	FAS	ORPHA:117
HP:0032016	Abnormal sputum	3592	IL12A	ORPHA:117
HP:0032016	Abnormal sputum	101928376	IL12A-AS1	ORPHA:117
HP:0032016	Abnormal sputum	7099	TLR4	ORPHA:117
HP:0032016	Abnormal sputum	3459	IFNGR1	ORPHA:117
HP:0032016	Abnormal sputum	720	C4A	ORPHA:117
HP:0032016	Abnormal sputum	337867	UBAC2	ORPHA:117
HP:0032016	Abnormal sputum	51752	ERAP1	ORPHA:117
HP:0032016	Abnormal sputum	8302	KLRC4	ORPHA:117
HP:0032016	Abnormal sputum	25981	DNAH1	ORPHA:244
HP:0032016	Abnormal sputum	115948	ODAD3	ORPHA:244
HP:0032016	Abnormal sputum	54768	HYDIN	ORPHA:244
HP:0032016	Abnormal sputum	352909	DNAAF3	ORPHA:244
HP:0032016	Abnormal sputum	27148	STK36	ORPHA:244
HP:0032016	Abnormal sputum	51314	NME8	ORPHA:244
HP:0032016	Abnormal sputum	92749	DRC1	ORPHA:244
HP:0032016	Abnormal sputum	54970	TTC12	ORPHA:244
HP:0032016	Abnormal sputum	152110	NEK10	ORPHA:244
HP:0032016	Abnormal sputum	8481	OFD1	ORPHA:244
HP:0032016	Abnormal sputum	2302	FOXJ1	ORPHA:244
HP:0032016	Abnormal sputum	221421	RSPH9	ORPHA:244
HP:0032016	Abnormal sputum	85478	CCDC65	ORPHA:244
HP:0032016	Abnormal sputum	55036	CCDC40	ORPHA:244
HP:0032016	Abnormal sputum	51364	ZMYND10	ORPHA:244
HP:0032016	Abnormal sputum	64446	DNAI2	ORPHA:244
HP:0032016	Abnormal sputum	6674	SPAG1	ORPHA:244
HP:0032016	Abnormal sputum	83544	DNAL1	ORPHA:244
HP:0032016	Abnormal sputum	89765	RSPH1	ORPHA:244
HP:0032016	Abnormal sputum	83538	ODAD4	ORPHA:244
HP:0032016	Abnormal sputum	200373	CFAP221	ORPHA:244
HP:0032016	Abnormal sputum	374407	DNAJB13	ORPHA:244
HP:0032016	Abnormal sputum	55172	DNAAF2	ORPHA:244
HP:0032016	Abnormal sputum	161582	DNAAF4	ORPHA:244
HP:0032016	Abnormal sputum	2622	GAS8	ORPHA:244
HP:0032016	Abnormal sputum	23639	DNAAF11	ORPHA:244
HP:0032016	Abnormal sputum	27019	DNAI1	ORPHA:244
HP:0032016	Abnormal sputum	345895	RSPH4A	ORPHA:244
HP:0032016	Abnormal sputum	54919	DNAAF5	ORPHA:244
HP:0032016	Abnormal sputum	6103	RPGR	ORPHA:244
HP:0032016	Abnormal sputum	388389	CCDC103	ORPHA:244
HP:0032016	Abnormal sputum	93233	ODAD1	ORPHA:244
HP:0032016	Abnormal sputum	55130	ODAD2	ORPHA:244
HP:0032016	Abnormal sputum	1767	DNAH5	ORPHA:244
HP:0032016	Abnormal sputum	83861	RSPH3	ORPHA:244
HP:0032016	Abnormal sputum	345643	MCIDAS	ORPHA:244
HP:0032016	Abnormal sputum	56683	CFAP298	ORPHA:244
HP:0032016	Abnormal sputum	79925	SPEF2	ORPHA:244
HP:0032016	Abnormal sputum	10309	CCNO	ORPHA:244
HP:0032016	Abnormal sputum	115399	LRRC56	ORPHA:244
HP:0032016	Abnormal sputum	139212	DNAAF6	ORPHA:244
HP:0032016	Abnormal sputum	123872	DNAAF1	ORPHA:244
HP:0032016	Abnormal sputum	85016	CFAP300	ORPHA:244
HP:0032016	Abnormal sputum	339829	CCDC39	ORPHA:244
HP:0032016	Abnormal sputum	8701	DNAH11	ORPHA:244
HP:0032016	Abnormal sputum	1770	DNAH9	ORPHA:244
HP:0032016	Abnormal sputum	246176	GAS2L2	ORPHA:244
HP:0032016	Abnormal sputum	5265	SERPINA1	OMIM:613490
HP:0032019	Muscle eosinophilia	825	CAPN3	OMIM:253600
HP:0004227	Short distal phalanx of the 5th finger	1280	COL2A1	OMIM:271700
HP:0004227	Short distal phalanx of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004227	Short distal phalanx of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004227	Short distal phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004227	Short distal phalanx of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0006172	Flattened, squared-off epiphyses of tubular bones	1280	COL2A1	OMIM:156550
HP:0006174	Metacarpal diaphyseal endosteal sclerosis	4041	LRP5	OMIM:144750
HP:0006176	Two carpal ossification centers present at birth	2719	GPC3	OMIM:312870
HP:0006176	Two carpal ossification centers present at birth	2239	GPC4	OMIM:312870
HP:0004241	Stippled calcification in carpal bones	10682	EBP	OMIM:302960
HP:0004241	Stippled calcification in carpal bones	10568	SLC34A2	ORPHA:60025
HP:0006184	Decreased palmar creases	113189	CHST14	ORPHA:2953
HP:0006184	Decreased palmar creases	29940	DSE	ORPHA:2953
HP:0006184	Decreased palmar creases	26053	AUTS2	OMIM:615834
HP:0006184	Decreased palmar creases	26053	AUTS2	ORPHA:352490
HP:0006184	Decreased palmar creases	63895	PIEZO2	OMIM:108145
HP:0006184	Decreased palmar creases	8985	PLOD3	OMIM:612394
HP:0006179	Pseudoepiphyses of second metacarpal	6299	SALL1	OMIM:107480
HP:0032021	Eosinophilic liver infiltration	3716	JAK1	OMIM:618999
HP:0032024	Ileal ulcer	7128	TNFAIP3	OMIM:616744
HP:0032025	Reduced serum alpha-1-antitrypsin	5265	SERPINA1	OMIM:613490
HP:0032027	Retinal dots	3769	KCNJ13	OMIM:193230
HP:0032027	Retinal dots	57545	CC2D2A	OMIM:619845
HP:0032027	Retinal dots	64802	NMNAT1	OMIM:608553
HP:0032027	Retinal dots	7275	TUB	OMIM:616188
HP:0032028	Macular dots	224	ALDH3A2	OMIM:270200
HP:0006180	Crowded carpal bones	4853	NOTCH2	OMIM:102500
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:233
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:959
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:2307
HP:0001177	Preaxial hand polydactyly	9935	MAFB	ORPHA:233
HP:0001177	Preaxial hand polydactyly	1123	CHN1	ORPHA:233
HP:0001177	Preaxial hand polydactyly	2137	EXTL3	ORPHA:508533
HP:0001177	Preaxial hand polydactyly	22827	PUF60	ORPHA:508498
HP:0001177	Preaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0001177	Preaxial hand polydactyly	6608	SMO	OMIM:601707
HP:0001177	Preaxial hand polydactyly	6608	SMO	ORPHA:1553
HP:0001177	Preaxial hand polydactyly	4750	NEK1	OMIM:263520
HP:0001177	Preaxial hand polydactyly	2737	GLI3	OMIM:175700
HP:0001177	Preaxial hand polydactyly	2737	GLI3	ORPHA:380
HP:0001177	Preaxial hand polydactyly	2737	GLI3	OMIM:174200
HP:0001177	Preaxial hand polydactyly	64327	LMBR1	ORPHA:2378
HP:0001177	Preaxial hand polydactyly	64327	LMBR1	OMIM:174500
HP:0001177	Preaxial hand polydactyly	55027	HEATR3	OMIM:620072
HP:0001177	Preaxial hand polydactyly	6299	SALL1	OMIM:107480
HP:0001177	Preaxial hand polydactyly	6299	SALL1	ORPHA:857
HP:0001177	Preaxial hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	374879	ZNF699	OMIM:619488
HP:0001177	Preaxial hand polydactyly	374654	KIF7	OMIM:200990
HP:0001177	Preaxial hand polydactyly	8318	CDC45	OMIM:617063
HP:0001177	Preaxial hand polydactyly	51339	DACT1	ORPHA:857
HP:0001177	Preaxial hand polydactyly	2177	FANCD2	OMIM:227646
HP:0001177	Preaxial hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001177	Preaxial hand polydactyly	23133	PHF8	ORPHA:85287
HP:0001177	Preaxial hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001177	Preaxial hand polydactyly	219844	HYLS1	OMIM:236680
HP:0001177	Preaxial hand polydactyly	26123	TCTN3	ORPHA:2753
HP:0001177	Preaxial hand polydactyly	26123	TCTN3	ORPHA:564
HP:0001177	Preaxial hand polydactyly	2697	GJA1	ORPHA:2710
HP:0001177	Preaxial hand polydactyly	3239	HOXD13	ORPHA:887
HP:0001177	Preaxial hand polydactyly	7020	TFAP2A	OMIM:113620
HP:0001177	Preaxial hand polydactyly	7020	TFAP2A	ORPHA:1297
HP:0001177	Preaxial hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79867	TCTN2	ORPHA:564
HP:0001177	Preaxial hand polydactyly	80776	B9D2	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79600	TCTN1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79848	CSPP1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	80184	CEP290	ORPHA:564
HP:0001177	Preaxial hand polydactyly	51259	TMEM216	ORPHA:564
HP:0001177	Preaxial hand polydactyly	57545	CC2D2A	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79583	TMEM231	ORPHA:564
HP:0001177	Preaxial hand polydactyly	91147	TMEM67	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001177	Preaxial hand polydactyly	27077	B9D1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001177	Preaxial hand polydactyly	54903	MKS1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	65062	TMEM237	ORPHA:564
HP:0001177	Preaxial hand polydactyly	10815	CPLX1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	10815	CPLX1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	54872	PIGG	ORPHA:280
HP:0001177	Preaxial hand polydactyly	7469	NELFA	ORPHA:280
HP:0001177	Preaxial hand polydactyly	1487	CTBP1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	1487	CTBP1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	3954	LETM1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	3954	LETM1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	7468	NSD2	ORPHA:280
HP:0001177	Preaxial hand polydactyly	7468	NSD2	OMIM:194190
HP:0001177	Preaxial hand polydactyly	2735	GLI1	OMIM:174400
HP:0001177	Preaxial hand polydactyly	53834	FGFRL1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	9343	EFTUD2	OMIM:610536
HP:0001177	Preaxial hand polydactyly	9343	EFTUD2	ORPHA:79113
HP:0001177	Preaxial hand polydactyly	2263	FGFR2	OMIM:101200
HP:0006185	Enlarged proximal interphalangeal joints	7994	KAT6A	OMIM:616268
HP:0006185	Enlarged proximal interphalangeal joints	3239	HOXD13	OMIM:186300
HP:0009773	Symphalangism affecting the phalanges of the hand	3549	IHH	OMIM:112500
HP:0009773	Symphalangism affecting the phalanges of the hand	3549	IHH	ORPHA:93388
HP:0009773	Symphalangism affecting the phalanges of the hand	8200	GDF5	ORPHA:93388
HP:0009773	Symphalangism affecting the phalanges of the hand	658	BMPR1B	ORPHA:93388
HP:0009773	Symphalangism affecting the phalanges of the hand	9791	PTDSS1	OMIM:151050
HP:0009773	Symphalangism affecting the phalanges of the hand	9241	NOG	OMIM:611377
HP:0009773	Symphalangism affecting the phalanges of the hand	9241	NOG	OMIM:186570
HP:0009773	Symphalangism affecting the phalanges of the hand	9241	NOG	OMIM:185800
HP:0009773	Symphalangism affecting the phalanges of the hand	22856	CHSY1	ORPHA:363417
HP:0009773	Symphalangism affecting the phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009773	Symphalangism affecting the phalanges of the hand	727857	BHLHA9	OMIM:609432
HP:0009773	Symphalangism affecting the phalanges of the hand	7021	TFAP2B	OMIM:169100
HP:0009773	Symphalangism affecting the phalanges of the hand	10084	PQBP1	OMIM:309500
HP:0009773	Symphalangism affecting the phalanges of the hand	4841	NONO	OMIM:300967
HP:0009773	Symphalangism affecting the phalanges of the hand	3239	HOXD13	ORPHA:93409
HP:0009773	Symphalangism affecting the phalanges of the hand	2263	FGFR2	ORPHA:1540
HP:0009773	Symphalangism affecting the phalanges of the hand	4621	MYH3	ORPHA:2990
HP:0009773	Symphalangism affecting the phalanges of the hand	1146	CHRNG	ORPHA:2990
HP:0009773	Symphalangism affecting the phalanges of the hand	1836	SLC26A2	ORPHA:628
HP:0009773	Symphalangism affecting the phalanges of the hand	4626	MYH8	ORPHA:3377
HP:0009773	Symphalangism affecting the phalanges of the hand	2254	FGF9	ORPHA:3237
HP:0001245	Small thenar eminence	6910	TBX5	OMIM:142900
HP:0001245	Small thenar eminence	11117	EMILIN1	OMIM:620080
HP:0001245	Small thenar eminence	5889	RAD51C	OMIM:613390
HP:0001245	Small thenar eminence	9775	EIF4A3	OMIM:268305
HP:0001245	Small thenar eminence	57167	SALL4	OMIM:147750
HP:0001245	Small thenar eminence	57167	SALL4	OMIM:607323
HP:0001245	Small thenar eminence	23291	FBXW11	OMIM:618914
HP:0001245	Small thenar eminence	2263	FGFR2	OMIM:149730
HP:0001245	Small thenar eminence	3209	HOXA13	OMIM:140000
HP:0001245	Small thenar eminence	121512	FGD4	OMIM:609311
HP:0001245	Small thenar eminence	6223	RPS19	OMIM:105650
HP:0032037	Mildly reduced visual acuity	55214	P3H2	OMIM:614292
HP:0032037	Mildly reduced visual acuity	90167	FRMD7	OMIM:310700
HP:0032039	Abnormality of the ocular adnexa	1718	DHCR24	OMIM:602398
HP:0032039	Abnormality of the ocular adnexa	1718	DHCR24	ORPHA:35107
HP:0032039	Abnormality of the ocular adnexa	26235	FBXL4	OMIM:615471
HP:0032039	Abnormality of the ocular adnexa	1139	CHRNA7	ORPHA:199318
HP:0032039	Abnormality of the ocular adnexa	23019	CNOT1	OMIM:618500
HP:0032039	Abnormality of the ocular adnexa	8216	LZTR1	OMIM:616564
HP:0032039	Abnormality of the ocular adnexa	8216	LZTR1	OMIM:605275
HP:0032039	Abnormality of the ocular adnexa	5728	PTEN	OMIM:605309
HP:0032039	Abnormality of the ocular adnexa	6659	SOX4	OMIM:618506
HP:0032039	Abnormality of the ocular adnexa	6016	RIT1	OMIM:615355
HP:0032039	Abnormality of the ocular adnexa	4204	MECP2	ORPHA:1762
HP:0032039	Abnormality of the ocular adnexa	4204	MECP2	OMIM:300260
HP:0032039	Abnormality of the ocular adnexa	51126	NAA20	OMIM:619717
HP:0032039	Abnormality of the ocular adnexa	7360	UGP2	OMIM:618744
HP:0032039	Abnormality of the ocular adnexa	81857	MED25	OMIM:616449
HP:0032039	Abnormality of the ocular adnexa	81857	MED25	ORPHA:464738
HP:0032039	Abnormality of the ocular adnexa	84942	WDR73	OMIM:251300
HP:0032039	Abnormality of the ocular adnexa	5830	PEX5	OMIM:214110
HP:0032039	Abnormality of the ocular adnexa	5830	PEX5	OMIM:202370
HP:0032039	Abnormality of the ocular adnexa	5830	PEX5	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	51	ACOX1	ORPHA:2971
HP:0032039	Abnormality of the ocular adnexa	79848	CSPP1	ORPHA:397715
HP:0032039	Abnormality of the ocular adnexa	9786	KIAA0586	ORPHA:397715
HP:0032039	Abnormality of the ocular adnexa	3020	H3-3A	OMIM:619720
HP:0032039	Abnormality of the ocular adnexa	51741	WWOX	OMIM:616211
HP:0032039	Abnormality of the ocular adnexa	283489	CHAMP1	OMIM:616579
HP:0032039	Abnormality of the ocular adnexa	51111	KMT5B	OMIM:617788
HP:0032039	Abnormality of the ocular adnexa	2624	GATA2	OMIM:614038
HP:0032039	Abnormality of the ocular adnexa	79639	TMEM53	OMIM:619727
HP:0032039	Abnormality of the ocular adnexa	129563	DIS3L2	ORPHA:2849
HP:0032039	Abnormality of the ocular adnexa	79158	GNPTAB	OMIM:252500
HP:0032039	Abnormality of the ocular adnexa	79158	GNPTAB	ORPHA:576
HP:0032039	Abnormality of the ocular adnexa	57728	WDR19	ORPHA:1515
HP:0032039	Abnormality of the ocular adnexa	57728	WDR19	OMIM:614378
HP:0032039	Abnormality of the ocular adnexa	6023	RMRP	ORPHA:175
HP:0032039	Abnormality of the ocular adnexa	57589	RIC1	OMIM:618761
HP:0032039	Abnormality of the ocular adnexa	9692	PRORP	OMIM:619737
HP:0032039	Abnormality of the ocular adnexa	815	CAMK2A	OMIM:617798
HP:0032039	Abnormality of the ocular adnexa	23545	ATP6V0A2	ORPHA:2834
HP:0032039	Abnormality of the ocular adnexa	23545	ATP6V0A2	OMIM:278250
HP:0032039	Abnormality of the ocular adnexa	10381	TUBB3	ORPHA:300570
HP:0032039	Abnormality of the ocular adnexa	9326	ZNHIT3	ORPHA:2836
HP:0032039	Abnormality of the ocular adnexa	9326	ZNHIT3	OMIM:260565
HP:0032039	Abnormality of the ocular adnexa	547	KIF1A	ORPHA:2836
HP:0032039	Abnormality of the ocular adnexa	2626	GATA4	ORPHA:251071
HP:0032039	Abnormality of the ocular adnexa	1277	COL1A1	ORPHA:287
HP:0032039	Abnormality of the ocular adnexa	1277	COL1A1	ORPHA:1899
HP:0032039	Abnormality of the ocular adnexa	1289	COL5A1	ORPHA:287
HP:0032039	Abnormality of the ocular adnexa	1289	COL5A1	OMIM:130000
HP:0032039	Abnormality of the ocular adnexa	1290	COL5A2	ORPHA:287
HP:0032039	Abnormality of the ocular adnexa	1290	COL5A2	OMIM:130010
HP:0032039	Abnormality of the ocular adnexa	9401	RECQL4	OMIM:218600
HP:0032039	Abnormality of the ocular adnexa	9401	RECQL4	OMIM:268400
HP:0032039	Abnormality of the ocular adnexa	9401	RECQL4	ORPHA:1225
HP:0032039	Abnormality of the ocular adnexa	10087	CERT1	OMIM:616351
HP:0032039	Abnormality of the ocular adnexa	8726	EED	OMIM:617561
HP:0032039	Abnormality of the ocular adnexa	54872	PIGG	ORPHA:280
HP:0032039	Abnormality of the ocular adnexa	7469	NELFA	ORPHA:280
HP:0032039	Abnormality of the ocular adnexa	1487	CTBP1	ORPHA:280
HP:0032039	Abnormality of the ocular adnexa	1487	CTBP1	OMIM:194190
HP:0032039	Abnormality of the ocular adnexa	3954	LETM1	ORPHA:280
HP:0032039	Abnormality of the ocular adnexa	3954	LETM1	OMIM:194190
HP:0032039	Abnormality of the ocular adnexa	4763	NF1	ORPHA:363700
HP:0032039	Abnormality of the ocular adnexa	4763	NF1	OMIM:193520
HP:0032039	Abnormality of the ocular adnexa	4763	NF1	OMIM:601321
HP:0032039	Abnormality of the ocular adnexa	22884	WDR37	OMIM:618652
HP:0032039	Abnormality of the ocular adnexa	1656	DDX6	OMIM:618653
HP:0032039	Abnormality of the ocular adnexa	1501	CTNND2	ORPHA:281
HP:0032039	Abnormality of the ocular adnexa	9037	SEMA5A	ORPHA:281
HP:0032039	Abnormality of the ocular adnexa	5442	POLRMT	OMIM:619743
HP:0032039	Abnormality of the ocular adnexa	80776	B9D2	OMIM:614175
HP:0032039	Abnormality of the ocular adnexa	57178	ZMIZ1	OMIM:618659
HP:0032039	Abnormality of the ocular adnexa	5500	PPP1CB	ORPHA:2701
HP:0032039	Abnormality of the ocular adnexa	5500	PPP1CB	OMIM:617506
HP:0032039	Abnormality of the ocular adnexa	3340	NDST1	OMIM:616116
HP:0032039	Abnormality of the ocular adnexa	55012	PPP2R3C	OMIM:618419
HP:0032039	Abnormality of the ocular adnexa	93627	TBCK	ORPHA:488632
HP:0032039	Abnormality of the ocular adnexa	93627	TBCK	OMIM:616900
HP:0032039	Abnormality of the ocular adnexa	200734	SPRED2	OMIM:619745
HP:0032039	Abnormality of the ocular adnexa	55623	THUMPD1	OMIM:619989
HP:0032039	Abnormality of the ocular adnexa	54345	SOX18	OMIM:137940
HP:0032039	Abnormality of the ocular adnexa	1789	DNMT3B	OMIM:242860
HP:0032039	Abnormality of the ocular adnexa	1789	DNMT3B	ORPHA:2268
HP:0032039	Abnormality of the ocular adnexa	1186	CLCN7	OMIM:618541
HP:0032039	Abnormality of the ocular adnexa	23312	DMXL2	OMIM:618663
HP:0032039	Abnormality of the ocular adnexa	26038	CHD5	OMIM:619873
HP:0032039	Abnormality of the ocular adnexa	1182	CLCN3	OMIM:619512
HP:0032039	Abnormality of the ocular adnexa	23461	ABCA5	OMIM:135400
HP:0032039	Abnormality of the ocular adnexa	54914	FOCAD	OMIM:619991
HP:0032039	Abnormality of the ocular adnexa	9841	ZBTB24	OMIM:614069
HP:0032039	Abnormality of the ocular adnexa	9841	ZBTB24	ORPHA:2268
HP:0032039	Abnormality of the ocular adnexa	3098	HK1	OMIM:618547
HP:0032039	Abnormality of the ocular adnexa	5979	RET	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	8516	ITGA8	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	26281	FGF20	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	2674	GFRA1	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	7484	WNT9B	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	80000	GREB1L	ORPHA:1848
HP:0032039	Abnormality of the ocular adnexa	5590	PRKCZ	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	2563	GABRD	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	8510	MMP23B	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	7798	LUZP1	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	10630	PDPN	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	10277	UBE4B	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	8514	KCNAB2	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	473	RERE	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	473	RERE	ORPHA:494344
HP:0032039	Abnormality of the ocular adnexa	473	RERE	OMIM:616975
HP:0032039	Abnormality of the ocular adnexa	63976	PRDM16	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	54897	CASZ1	ORPHA:1606
HP:0032039	Abnormality of the ocular adnexa	6134	RPL10	ORPHA:459070
HP:0032039	Abnormality of the ocular adnexa	6134	RPL10	OMIM:300998
HP:0032039	Abnormality of the ocular adnexa	286	ANK1	ORPHA:251066
HP:0032039	Abnormality of the ocular adnexa	85365	ALG2	ORPHA:79326
HP:0032039	Abnormality of the ocular adnexa	85365	ALG2	OMIM:607906
HP:0032039	Abnormality of the ocular adnexa	26137	ZBTB20	OMIM:259050
HP:0032039	Abnormality of the ocular adnexa	54828	BCAS3	OMIM:619641
HP:0032039	Abnormality of the ocular adnexa	56098	PCDHGC4	OMIM:619880
HP:0032039	Abnormality of the ocular adnexa	53335	BCL11A	OMIM:617101
HP:0032039	Abnormality of the ocular adnexa	59336	PRDM13	OMIM:619761
HP:0032039	Abnormality of the ocular adnexa	59336	PRDM13	OMIM:619909
HP:0032039	Abnormality of the ocular adnexa	6942	TCF20	OMIM:618430
HP:0032039	Abnormality of the ocular adnexa	9968	MED12	OMIM:305450
HP:0032039	Abnormality of the ocular adnexa	9968	MED12	OMIM:300895
HP:0032039	Abnormality of the ocular adnexa	2324	FLT4	ORPHA:79452
HP:0032039	Abnormality of the ocular adnexa	57165	GJC2	ORPHA:79452
HP:0032039	Abnormality of the ocular adnexa	5373	PMM2	ORPHA:79318
HP:0032039	Abnormality of the ocular adnexa	57724	EPG5	OMIM:242840
HP:0032039	Abnormality of the ocular adnexa	23556	PIGN	OMIM:614080
HP:0032039	Abnormality of the ocular adnexa	23556	PIGN	ORPHA:280633
HP:0032039	Abnormality of the ocular adnexa	7030	TFE3	OMIM:301066
HP:0032039	Abnormality of the ocular adnexa	2239	GPC4	ORPHA:373
HP:0032039	Abnormality of the ocular adnexa	2239	GPC4	OMIM:312870
HP:0032039	Abnormality of the ocular adnexa	2239	GPC4	ORPHA:2662
HP:0032039	Abnormality of the ocular adnexa	2719	GPC3	ORPHA:373
HP:0032039	Abnormality of the ocular adnexa	2719	GPC3	OMIM:312870
HP:0032039	Abnormality of the ocular adnexa	5286	PIK3C2A	OMIM:618440
HP:0032039	Abnormality of the ocular adnexa	5286	PIK3C2A	ORPHA:557003
HP:0032039	Abnormality of the ocular adnexa	8565	YARS1	OMIM:619418
HP:0032039	Abnormality of the ocular adnexa	84168	ANTXR1	OMIM:230740
HP:0032039	Abnormality of the ocular adnexa	23499	MACF1	OMIM:618325
HP:0032039	Abnormality of the ocular adnexa	1107	CHD3	OMIM:618205
HP:0032039	Abnormality of the ocular adnexa	374969	SVBP	OMIM:618569
HP:0032039	Abnormality of the ocular adnexa	6261	RYR1	ORPHA:324581
HP:0032039	Abnormality of the ocular adnexa	7476	WNT7A	OMIM:276820
HP:0032039	Abnormality of the ocular adnexa	79087	ALG12	ORPHA:79324
HP:0032039	Abnormality of the ocular adnexa	79087	ALG12	OMIM:607143
HP:0032039	Abnormality of the ocular adnexa	9896	FIG4	OMIM:216340
HP:0032039	Abnormality of the ocular adnexa	10195	ALG3	OMIM:601110
HP:0032039	Abnormality of the ocular adnexa	257	ALX3	OMIM:136760
HP:0032039	Abnormality of the ocular adnexa	257	ALX3	ORPHA:391474
HP:0032039	Abnormality of the ocular adnexa	6135	RPL11	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6138	RPL15	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6229	RPS24	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6125	RPL5	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6204	RPS10	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6224	RPS20	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6165	RPL35A	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6223	RPS19	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6223	RPS19	OMIM:105650
HP:0032039	Abnormality of the ocular adnexa	6232	RPS27	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6231	RPS26	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	11224	RPL35	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6160	RPL31	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6218	RPS17	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6201	RPS7	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6155	RPL27	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6210	RPS15A	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	90121	TSR2	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6141	RPL18	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6235	RPS29	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6234	RPS28	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	6234	RPS28	OMIM:606164
HP:0032039	Abnormality of the ocular adnexa	51816	ADA2	ORPHA:124
HP:0032039	Abnormality of the ocular adnexa	1917	EEF1A2	OMIM:616393
HP:0032039	Abnormality of the ocular adnexa	9742	IFT140	OMIM:266920
HP:0032039	Abnormality of the ocular adnexa	26173	INTS1	OMIM:618571
HP:0032039	Abnormality of the ocular adnexa	51117	COQ4	OMIM:616276
HP:0032039	Abnormality of the ocular adnexa	164	AP1G1	OMIM:619548
HP:0032039	Abnormality of the ocular adnexa	6857	SYT1	OMIM:618218
HP:0032039	Abnormality of the ocular adnexa	6857	SYT1	ORPHA:522077
HP:0032039	Abnormality of the ocular adnexa	6654	SOS1	OMIM:610733
HP:0032039	Abnormality of the ocular adnexa	1801	DPH1	ORPHA:459061
HP:0032039	Abnormality of the ocular adnexa	1801	DPH1	OMIM:616901
HP:0032039	Abnormality of the ocular adnexa	389827	MYMK	OMIM:254940
HP:0032039	Abnormality of the ocular adnexa	389827	MYMK	ORPHA:1358
HP:0032039	Abnormality of the ocular adnexa	84706	GPT2	OMIM:616281
HP:0032039	Abnormality of the ocular adnexa	5898	RALA	OMIM:619311
HP:0032039	Abnormality of the ocular adnexa	6909	TBX2	OMIM:618223
HP:0032039	Abnormality of the ocular adnexa	5351	PLOD1	OMIM:225400
HP:0032039	Abnormality of the ocular adnexa	6477	SIAH1	OMIM:619314
HP:0032039	Abnormality of the ocular adnexa	54517	PUS7	OMIM:618342
HP:0032039	Abnormality of the ocular adnexa	57102	C12orf4	OMIM:618221
HP:0032039	Abnormality of the ocular adnexa	8573	CASK	OMIM:300749
HP:0032039	Abnormality of the ocular adnexa	10785	WDR4	OMIM:618347
HP:0032039	Abnormality of the ocular adnexa	55628	ZNF407	OMIM:619557
HP:0032039	Abnormality of the ocular adnexa	56623	INPP5E	OMIM:213300
HP:0032039	Abnormality of the ocular adnexa	50814	NSDHL	ORPHA:251383
HP:0032039	Abnormality of the ocular adnexa	50814	NSDHL	OMIM:300831
HP:0032039	Abnormality of the ocular adnexa	5515	PPP2CA	OMIM:618354
HP:0032039	Abnormality of the ocular adnexa	26275	HIBCH	ORPHA:88639
HP:0032039	Abnormality of the ocular adnexa	26275	HIBCH	OMIM:250620
HP:0032039	Abnormality of the ocular adnexa	650	BMP2	ORPHA:261295
HP:0032039	Abnormality of the ocular adnexa	5980	REV3L	ORPHA:570
HP:0032039	Abnormality of the ocular adnexa	23129	PLXND1	ORPHA:570
HP:0032039	Abnormality of the ocular adnexa	3039	HBA1	ORPHA:98791
HP:0032039	Abnormality of the ocular adnexa	3040	HBA2	ORPHA:98791
HP:0032039	Abnormality of the ocular adnexa	2334	AFF2	OMIM:309548
HP:0032039	Abnormality of the ocular adnexa	2334	AFF2	ORPHA:100973
HP:0032039	Abnormality of the ocular adnexa	4141	MARS1	OMIM:619692
HP:0032039	Abnormality of the ocular adnexa	4125	MAN2B1	OMIM:248500
HP:0032039	Abnormality of the ocular adnexa	10082	GPC6	OMIM:258315
HP:0032039	Abnormality of the ocular adnexa	9719	ADAMTSL2	ORPHA:1901
HP:0032039	Abnormality of the ocular adnexa	23389	MED13L	ORPHA:369891
HP:0032039	Abnormality of the ocular adnexa	23111	SPART	ORPHA:101000
HP:0032039	Abnormality of the ocular adnexa	5573	PRKAR1A	OMIM:101800
HP:0032039	Abnormality of the ocular adnexa	5573	PRKAR1A	ORPHA:950
HP:0032039	Abnormality of the ocular adnexa	9851	KIAA0753	OMIM:619476
HP:0032039	Abnormality of the ocular adnexa	9851	KIAA0753	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	2290	FOXG1	ORPHA:261144
HP:0032039	Abnormality of the ocular adnexa	65250	CPLANE1	OMIM:277170
HP:0032039	Abnormality of the ocular adnexa	65250	CPLANE1	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	134218	DNAJC21	OMIM:617052
HP:0032039	Abnormality of the ocular adnexa	5977	DPF2	OMIM:618027
HP:0032039	Abnormality of the ocular adnexa	79005	SCNM1	OMIM:620107
HP:0032039	Abnormality of the ocular adnexa	2132	EXT2	ORPHA:52022
HP:0032039	Abnormality of the ocular adnexa	51317	PHF21A	ORPHA:52022
HP:0032039	Abnormality of the ocular adnexa	11198	SUPT16H	OMIM:619480
HP:0032039	Abnormality of the ocular adnexa	1457	CSNK2A1	OMIM:617062
HP:0032039	Abnormality of the ocular adnexa	7204	TRIO	OMIM:617061
HP:0032039	Abnormality of the ocular adnexa	7204	TRIO	ORPHA:476126
HP:0032039	Abnormality of the ocular adnexa	5290	PIK3CA	OMIM:602501
HP:0032039	Abnormality of the ocular adnexa	2222	FDFT1	OMIM:618156
HP:0032039	Abnormality of the ocular adnexa	57477	SHROOM4	ORPHA:85288
HP:0032039	Abnormality of the ocular adnexa	10220	GDF11	OMIM:619122
HP:0032039	Abnormality of the ocular adnexa	226	ALDOA	OMIM:611881
HP:0032039	Abnormality of the ocular adnexa	8450	CUL4B	ORPHA:85293
HP:0032039	Abnormality of the ocular adnexa	93587	TRMT10A	ORPHA:391408
HP:0032039	Abnormality of the ocular adnexa	84919	PPP1R15B	ORPHA:391408
HP:0032039	Abnormality of the ocular adnexa	84919	PPP1R15B	OMIM:616817
HP:0032039	Abnormality of the ocular adnexa	3090	HIC1	ORPHA:531
HP:0032039	Abnormality of the ocular adnexa	5048	PAFAH1B1	ORPHA:531
HP:0032039	Abnormality of the ocular adnexa	7531	YWHAE	ORPHA:531
HP:0032039	Abnormality of the ocular adnexa	80267	EDEM3	OMIM:619493
HP:0032039	Abnormality of the ocular adnexa	23154	NCDN	OMIM:619373
HP:0032039	Abnormality of the ocular adnexa	84231	TRAF7	OMIM:618164
HP:0032039	Abnormality of the ocular adnexa	89970	RSPRY1	ORPHA:457395
HP:0032039	Abnormality of the ocular adnexa	89970	RSPRY1	OMIM:616723
HP:0032039	Abnormality of the ocular adnexa	51594	NBAS	OMIM:614800
HP:0032039	Abnormality of the ocular adnexa	54187	NANS	OMIM:610442
HP:0032039	Abnormality of the ocular adnexa	3295	HSD17B4	OMIM:261515
HP:0032039	Abnormality of the ocular adnexa	10020	GNE	ORPHA:3166
HP:0032039	Abnormality of the ocular adnexa	10020	GNE	OMIM:269921
HP:0032039	Abnormality of the ocular adnexa	10079	ATP9A	OMIM:620242
HP:0032039	Abnormality of the ocular adnexa	1795	DOCK3	OMIM:618292
HP:0032039	Abnormality of the ocular adnexa	114034	TOE1	ORPHA:284339
HP:0032039	Abnormality of the ocular adnexa	114034	TOE1	OMIM:614969
HP:0032039	Abnormality of the ocular adnexa	9562	MINPP1	ORPHA:284339
HP:0032039	Abnormality of the ocular adnexa	51626	DYNC2LI1	OMIM:617088
HP:0032039	Abnormality of the ocular adnexa	27161	AGO2	OMIM:619149
HP:0032039	Abnormality of the ocular adnexa	4921	DDR2	OMIM:618175
HP:0032039	Abnormality of the ocular adnexa	221927	BRAT1	OMIM:618056
HP:0032039	Abnormality of the ocular adnexa	168667	BMPER	OMIM:608022
HP:0032039	Abnormality of the ocular adnexa	7337	UBE3A	ORPHA:238446
HP:0032039	Abnormality of the ocular adnexa	6309	SC5D	ORPHA:46059
HP:0032039	Abnormality of the ocular adnexa	6309	SC5D	OMIM:607330
HP:0032039	Abnormality of the ocular adnexa	8506	CNTNAP1	OMIM:618186
HP:0032039	Abnormality of the ocular adnexa	5393	EXOSC9	OMIM:618065
HP:0032039	Abnormality of the ocular adnexa	161742	SPRED1	OMIM:611431
HP:0032039	Abnormality of the ocular adnexa	5894	RAF1	OMIM:611554
HP:0032039	Abnormality of the ocular adnexa	5894	RAF1	OMIM:611553
HP:0032039	Abnormality of the ocular adnexa	55112	DYNC2I1	ORPHA:93271
HP:0032039	Abnormality of the ocular adnexa	57560	IFT80	ORPHA:93271
HP:0032039	Abnormality of the ocular adnexa	79659	DYNC2H1	ORPHA:93271
HP:0032039	Abnormality of the ocular adnexa	89891	DYNC2I2	ORPHA:93271
HP:0032039	Abnormality of the ocular adnexa	374654	KIF7	OMIM:200990
HP:0032039	Abnormality of the ocular adnexa	374654	KIF7	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	55788	LMBRD1	OMIM:277380
HP:0032039	Abnormality of the ocular adnexa	1717	DHCR7	ORPHA:818
HP:0032039	Abnormality of the ocular adnexa	1717	DHCR7	OMIM:270400
HP:0032039	Abnormality of the ocular adnexa	25782	RAB3GAP2	OMIM:212720
HP:0032039	Abnormality of the ocular adnexa	10225	CD96	OMIM:211750
HP:0032039	Abnormality of the ocular adnexa	10225	CD96	ORPHA:1308
HP:0032039	Abnormality of the ocular adnexa	1301	COL11A1	OMIM:154780
HP:0032039	Abnormality of the ocular adnexa	28958	COA3	OMIM:619058
HP:0032039	Abnormality of the ocular adnexa	9739	SETD1A	OMIM:619056
HP:0032039	Abnormality of the ocular adnexa	7490	WT1	OMIM:194080
HP:0032039	Abnormality of the ocular adnexa	8546	AP3B1	OMIM:608233
HP:0032039	Abnormality of the ocular adnexa	9184	BUB3	ORPHA:1052
HP:0032039	Abnormality of the ocular adnexa	9319	TRIP13	ORPHA:1052
HP:0032039	Abnormality of the ocular adnexa	701	BUB1B	ORPHA:1052
HP:0032039	Abnormality of the ocular adnexa	701	BUB1B	OMIM:257300
HP:0032039	Abnormality of the ocular adnexa	23036	ZNF292	OMIM:619188
HP:0032039	Abnormality of the ocular adnexa	3070	HELLS	ORPHA:2268
HP:0032039	Abnormality of the ocular adnexa	3070	HELLS	OMIM:616911
HP:0032039	Abnormality of the ocular adnexa	83879	CDCA7	ORPHA:2268
HP:0032039	Abnormality of the ocular adnexa	83879	CDCA7	OMIM:616910
HP:0032039	Abnormality of the ocular adnexa	1954	MEGF8	OMIM:614976
HP:0032039	Abnormality of the ocular adnexa	84300	UQCC2	OMIM:615824
HP:0032039	Abnormality of the ocular adnexa	53834	FGFRL1	OMIM:194190
HP:0032039	Abnormality of the ocular adnexa	10522	DEAF1	OMIM:615828
HP:0032039	Abnormality of the ocular adnexa	9653	HS2ST1	OMIM:619194
HP:0032039	Abnormality of the ocular adnexa	10801	SEPTIN9	OMIM:162100
HP:0032039	Abnormality of the ocular adnexa	7025	NR2F1	ORPHA:401777
HP:0032039	Abnormality of the ocular adnexa	7025	NR2F1	OMIM:615722
HP:0032039	Abnormality of the ocular adnexa	51660	MPC1	OMIM:614741
HP:0032039	Abnormality of the ocular adnexa	9508	ADAMTS3	ORPHA:2136
HP:0032039	Abnormality of the ocular adnexa	147372	CCBE1	ORPHA:2136
HP:0032039	Abnormality of the ocular adnexa	147372	CCBE1	OMIM:235510
HP:0032039	Abnormality of the ocular adnexa	6660	SOX5	OMIM:616803
HP:0032039	Abnormality of the ocular adnexa	5828	PEX2	OMIM:614866
HP:0032039	Abnormality of the ocular adnexa	5828	PEX2	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	6804	STX1A	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	7461	CLIP2	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	84277	DNAJC30	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	8468	FKBP6	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	5982	RFC2	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	2969	GTF2I	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	3984	LIMK1	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	9569	GTF2IRD1	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	155382	VPS37D	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	155368	METTL27	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	114049	BUD23	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	7458	EIF4H	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	84163	GTF2IRD2	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	9275	BCL7B	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	26608	TBL2	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	653361	NCF1	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	135886	TMEM270	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	51085	MLXIPL	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	51085	MLXIPL	OMIM:194050
HP:0032039	Abnormality of the ocular adnexa	9031	BAZ1B	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	2006	ELN	ORPHA:904
HP:0032039	Abnormality of the ocular adnexa	2006	ELN	OMIM:194050
HP:0032039	Abnormality of the ocular adnexa	285175	UNC80	OMIM:616801
HP:0032039	Abnormality of the ocular adnexa	3211	HOXB1	OMIM:614744
HP:0032039	Abnormality of the ocular adnexa	6329	SCN4A	ORPHA:99735
HP:0032039	Abnormality of the ocular adnexa	8050	PDHX	OMIM:245349
HP:0032039	Abnormality of the ocular adnexa	5594	MAPK1	OMIM:619087
HP:0032039	Abnormality of the ocular adnexa	10430	TMEM147	OMIM:620075
HP:0032039	Abnormality of the ocular adnexa	7355	SLC35A2	OMIM:300896
HP:0032039	Abnormality of the ocular adnexa	10735	STAG2	ORPHA:521258
HP:0032039	Abnormality of the ocular adnexa	8504	PEX3	OMIM:614882
HP:0032039	Abnormality of the ocular adnexa	8504	PEX3	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	55275	VPS53	OMIM:615851
HP:0032039	Abnormality of the ocular adnexa	2146	EZH2	OMIM:277590
HP:0032039	Abnormality of the ocular adnexa	5824	PEX19	OMIM:614886
HP:0032039	Abnormality of the ocular adnexa	5824	PEX19	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	50945	TBX22	ORPHA:921
HP:0032039	Abnormality of the ocular adnexa	92154	MTSS2	OMIM:620086
HP:0032039	Abnormality of the ocular adnexa	5631	PRPS1	OMIM:300661
HP:0032039	Abnormality of the ocular adnexa	171023	ASXL1	OMIM:605039
HP:0032039	Abnormality of the ocular adnexa	55023	PHIP	ORPHA:589905
HP:0032039	Abnormality of the ocular adnexa	55023	PHIP	OMIM:617991
HP:0032039	Abnormality of the ocular adnexa	5781	PTPN11	OMIM:151100
HP:0032039	Abnormality of the ocular adnexa	5781	PTPN11	OMIM:163950
HP:0032039	Abnormality of the ocular adnexa	867	CBL	OMIM:613563
HP:0032039	Abnormality of the ocular adnexa	2245	FGD1	ORPHA:915
HP:0032039	Abnormality of the ocular adnexa	1144	CHRND	OMIM:253290
HP:0032039	Abnormality of the ocular adnexa	1134	CHRNA1	OMIM:253290
HP:0032039	Abnormality of the ocular adnexa	196528	ARID2	OMIM:617808
HP:0032039	Abnormality of the ocular adnexa	55670	PEX26	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	8799	PEX11B	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	9409	PEX16	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	5193	PEX12	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	5194	PEX13	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	5195	PEX14	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	5192	PEX10	ORPHA:912
HP:0032039	Abnormality of the ocular adnexa	3720	JARID2	OMIM:620098
HP:0032039	Abnormality of the ocular adnexa	26123	TCTN3	OMIM:258860
HP:0032039	Abnormality of the ocular adnexa	26123	TCTN3	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	84627	ZNF469	OMIM:229200
HP:0032039	Abnormality of the ocular adnexa	9780	PIEZO1	OMIM:616843
HP:0032039	Abnormality of the ocular adnexa	1788	DNMT3A	OMIM:615879
HP:0032039	Abnormality of the ocular adnexa	1788	DNMT3A	OMIM:618724
HP:0032039	Abnormality of the ocular adnexa	65062	TMEM237	OMIM:614424
HP:0032039	Abnormality of the ocular adnexa	5859	QARS1	OMIM:615760
HP:0032039	Abnormality of the ocular adnexa	169792	GLIS3	OMIM:610199
HP:0032039	Abnormality of the ocular adnexa	55033	FKBP14	OMIM:614557
HP:0032039	Abnormality of the ocular adnexa	5053	PAH	ORPHA:2209
HP:0032039	Abnormality of the ocular adnexa	4131	MAP1B	OMIM:618918
HP:0032039	Abnormality of the ocular adnexa	101929726	MYMX	ORPHA:1358
HP:0032039	Abnormality of the ocular adnexa	5925	RB1	ORPHA:1587
HP:0032039	Abnormality of the ocular adnexa	23511	NUP188	OMIM:618804
HP:0032039	Abnormality of the ocular adnexa	64131	XYLT1	OMIM:615777
HP:0032039	Abnormality of the ocular adnexa	54806	AHI1	OMIM:608629
HP:0032039	Abnormality of the ocular adnexa	84342	COG8	OMIM:611182
HP:0032039	Abnormality of the ocular adnexa	57511	COG6	OMIM:614576
HP:0032039	Abnormality of the ocular adnexa	83696	TRAPPC9	ORPHA:352530
HP:0032039	Abnormality of the ocular adnexa	7421	VDR	OMIM:277440
HP:0032039	Abnormality of the ocular adnexa	5062	PAK2	ORPHA:1571
HP:0032039	Abnormality of the ocular adnexa	139285	AMER1	ORPHA:2780
HP:0032039	Abnormality of the ocular adnexa	139285	AMER1	OMIM:300373
HP:0032039	Abnormality of the ocular adnexa	55644	OSGEP	OMIM:617729
HP:0032039	Abnormality of the ocular adnexa	9361	LONP1	ORPHA:1458
HP:0032039	Abnormality of the ocular adnexa	6628	SNRPB	OMIM:117650
HP:0032039	Abnormality of the ocular adnexa	10367	MICU1	OMIM:615673
HP:0032039	Abnormality of the ocular adnexa	51002	TPRKB	OMIM:617731
HP:0032039	Abnormality of the ocular adnexa	4329	ALDH6A1	OMIM:614105
HP:0032039	Abnormality of the ocular adnexa	4796	TONSL	ORPHA:93357
HP:0032039	Abnormality of the ocular adnexa	55617	TASP1	OMIM:618950
HP:0032039	Abnormality of the ocular adnexa	6182	MRPL12	OMIM:618951
HP:0032039	Abnormality of the ocular adnexa	55704	CCDC88A	OMIM:617507
HP:0032039	Abnormality of the ocular adnexa	4841	NONO	ORPHA:466791
HP:0032039	Abnormality of the ocular adnexa	9320	TRIP12	OMIM:617752
HP:0032039	Abnormality of the ocular adnexa	26503	SLC17A5	OMIM:269920
HP:0032039	Abnormality of the ocular adnexa	1748	DLX4	OMIM:616788
HP:0032039	Abnormality of the ocular adnexa	1663	DDX11	OMIM:613398
HP:0032039	Abnormality of the ocular adnexa	5455	POU3F3	OMIM:618604
HP:0032039	Abnormality of the ocular adnexa	9757	KMT2B	OMIM:619934
HP:0032039	Abnormality of the ocular adnexa	10210	TOPORS	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	5147	PDE6D	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	51259	TMEM216	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	317662	FAM149B1	ORPHA:2754
HP:0032039	Abnormality of the ocular adnexa	5087	PBX1	OMIM:617641
HP:0032039	Abnormality of the ocular adnexa	6736	SRY	ORPHA:1772
HP:0032039	Abnormality of the ocular adnexa	8449	DHX16	OMIM:618733
HP:0032039	Abnormality of the ocular adnexa	58499	ZNF462	OMIM:618619
HP:0032039	Abnormality of the ocular adnexa	1278	COL1A2	ORPHA:1899
HP:0032039	Abnormality of the ocular adnexa	6843	VAMP1	ORPHA:251282
HP:0032039	Abnormality of the ocular adnexa	1493	CTLA4	ORPHA:2584
HP:0032039	Abnormality of the ocular adnexa	940	CD28	ORPHA:2584
HP:0032039	Abnormality of the ocular adnexa	7133	TNFRSF1B	ORPHA:2584
HP:0032039	Abnormality of the ocular adnexa	340533	NEXMIF	OMIM:300912
HP:0032039	Abnormality of the ocular adnexa	10743	RAI1	ORPHA:477817
HP:0032039	Abnormality of the ocular adnexa	10743	RAI1	ORPHA:1713
HP:0032039	Abnormality of the ocular adnexa	27245	AHDC1	ORPHA:412069
HP:0032039	Abnormality of the ocular adnexa	27245	AHDC1	OMIM:615829
HP:0032039	Abnormality of the ocular adnexa	55904	KMT2E	OMIM:618512
HP:0032039	Abnormality of the ocular adnexa	2590	GALNT2	OMIM:618885
HP:0032039	Abnormality of the ocular adnexa	5528	PPP2R5D	OMIM:616355
HP:0032039	Abnormality of the ocular adnexa	5528	PPP2R5D	ORPHA:457279
HP:0032039	Abnormality of the ocular adnexa	3737	KCNA2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	10991	SLC38A3	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	51343	FZR1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	22906	TRAK1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2566	GABRG2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2561	GABRB2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	8831	SYNGAP1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	7532	YWHAG	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	79876	UBA5	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	6328	SCN3A	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2558	GABRA5	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	781	CACNA2D1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2906	GRIN2D	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	116150	NUS1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	10659	CELF2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	774	CACNA1B	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	1213	CLTC	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	51412	ACTL6B	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	348980	HCN1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	6506	SLC1A2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	8867	SYNJ1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2258	FGF13	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	477	ATP1A2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	3745	KCNB1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	284111	SLC13A5	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	25977	NECAP1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	6334	SCN8A	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	22866	CNKSR2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	9568	GABBR2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2555	GABRA2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	55152	DALRD3	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	4915	NTRK2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	25973	PARS2	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	23097	CDK19	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	64801	ARV1	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	79947	DHDDS	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	2257	FGF12	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	5530	PPP3CA	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	478	ATP1A3	ORPHA:442835
HP:0032039	Abnormality of the ocular adnexa	10716	TBR1	ORPHA:1617
HP:0032039	Abnormality of the ocular adnexa	3476	IGBP1	ORPHA:52055
HP:0032039	Abnormality of the ocular adnexa	3476	IGBP1	OMIM:300472
HP:0032039	Abnormality of the ocular adnexa	5518	PPP2R1A	OMIM:616362
HP:0032039	Abnormality of the ocular adnexa	253738	EBF3	OMIM:617330
HP:0032039	Abnormality of the ocular adnexa	23512	SUZ12	OMIM:618786
HP:0032039	Abnormality of the ocular adnexa	23512	SUZ12	ORPHA:3447
HP:0032039	Abnormality of the ocular adnexa	3590	IL11RA	OMIM:614188
HP:0032039	Abnormality of the ocular adnexa	7862	BRPF1	OMIM:617333
HP:0032039	Abnormality of the ocular adnexa	23126	POGZ	OMIM:616364
HP:0032039	Abnormality of the ocular adnexa	57680	CHD8	OMIM:615032
HP:0032039	Abnormality of the ocular adnexa	3572	IL6ST	OMIM:619750
HP:0032039	Abnormality of the ocular adnexa	145258	GSC	OMIM:602471
HP:0032039	Abnormality of the ocular adnexa	8314	BAP1	OMIM:619762
HP:0032039	Abnormality of the ocular adnexa	259232	NALCN	OMIM:616266
HP:0032039	Abnormality of the ocular adnexa	259232	NALCN	ORPHA:2053
HP:0032039	Abnormality of the ocular adnexa	259232	NALCN	ORPHA:371364
HP:0032039	Abnormality of the ocular adnexa	8813	DPM1	ORPHA:79322
HP:0032039	Abnormality of the ocular adnexa	8813	DPM1	OMIM:608799
HP:0032039	Abnormality of the ocular adnexa	10262	SF3B4	ORPHA:245
HP:0032039	Abnormality of the ocular adnexa	10262	SF3B4	OMIM:154400
HP:0032039	Abnormality of the ocular adnexa	91252	SLC39A13	ORPHA:157965
HP:0032039	Abnormality of the ocular adnexa	91252	SLC39A13	OMIM:612350
HP:0032039	Abnormality of the ocular adnexa	9949	AMMECR1	OMIM:300990
HP:0032039	Abnormality of the ocular adnexa	9949	AMMECR1	ORPHA:86818
HP:0032039	Abnormality of the ocular adnexa	8925	HERC1	OMIM:617011
HP:0032039	Abnormality of the ocular adnexa	8925	HERC1	ORPHA:457359
HP:0032039	Abnormality of the ocular adnexa	56896	DPYSL5	OMIM:619435
HP:0032039	Abnormality of the ocular adnexa	4598	MVK	ORPHA:29
HP:0032039	Abnormality of the ocular adnexa	4598	MVK	OMIM:610377
HP:0032039	Abnormality of the ocular adnexa	10765	KDM5B	OMIM:618109
HP:0032039	Abnormality of the ocular adnexa	5396	PRRX1	OMIM:202650
HP:0032039	Abnormality of the ocular adnexa	6418	SET	OMIM:618106
HP:0032039	Abnormality of the ocular adnexa	7372	UMPS	ORPHA:30
HP:0032039	Abnormality of the ocular adnexa	91754	NEK9	OMIM:617022
HP:0032039	Abnormality of the ocular adnexa	9871	SEC24D	OMIM:616294
HP:0032039	Abnormality of the ocular adnexa	9871	SEC24D	ORPHA:2050
HP:0032039	Abnormality of the ocular adnexa	9342	SNAP29	ORPHA:66631
HP:0032039	Abnormality of the ocular adnexa	9342	SNAP29	OMIM:609528
HP:0032039	Abnormality of the ocular adnexa	83999	KREMEN1	OMIM:617392
HP:0032039	Abnormality of the ocular adnexa	51132	RLIM	OMIM:300978
HP:0032039	Abnormality of the ocular adnexa	201163	FLCN	OMIM:610883
HP:0032039	Abnormality of the ocular adnexa	29920	PYCR2	ORPHA:481152
HP:0032039	Abnormality of the ocular adnexa	29920	PYCR2	OMIM:616420
HP:0032039	Abnormality of the ocular adnexa	92344	GORAB	OMIM:231070
HP:0032039	Abnormality of the ocular adnexa	7136	TNNI2	OMIM:601680
HP:0032039	Abnormality of the ocular adnexa	10524	KAT5	OMIM:619103
HP:0032039	Abnormality of the ocular adnexa	372	ARCN1	OMIM:617164
HP:0032039	Abnormality of the ocular adnexa	633	BGN	OMIM:300989
HP:0032039	Abnormality of the ocular adnexa	22808	MRAS	OMIM:618499
HP:0032039	Abnormality of the ocular adnexa	22808	MRAS	ORPHA:648
HP:0032039	Abnormality of the ocular adnexa	2475	MTOR	ORPHA:457485
HP:0032039	Abnormality of the ocular adnexa	2475	MTOR	OMIM:616638
HP:0032039	Abnormality of the ocular adnexa	6304	SATB1	OMIM:619229
HP:0032039	Abnormality of the ocular adnexa	23594	ORC6	OMIM:613803
HP:0032039	Abnormality of the ocular adnexa	5913	RAPSN	OMIM:618388
HP:0032039	Abnormality of the ocular adnexa	285489	DOK7	OMIM:618389
HP:0032039	Abnormality of the ocular adnexa	285590	SH3PXD2B	ORPHA:137834
HP:0032039	Abnormality of the ocular adnexa	285590	SH3PXD2B	OMIM:249420
HP:0032039	Abnormality of the ocular adnexa	23067	SETD1B	OMIM:619000
HP:0032039	Abnormality of the ocular adnexa	23112	TNRC6B	OMIM:619243
HP:0032039	Abnormality of the ocular adnexa	22995	CEP152	OMIM:613823
HP:0032039	Abnormality of the ocular adnexa	22995	CEP152	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	4781	NFIB	OMIM:618286
HP:0032039	Abnormality of the ocular adnexa	2733	GLE1	OMIM:611890
HP:0032039	Abnormality of the ocular adnexa	22800	RRAS2	ORPHA:648
HP:0032039	Abnormality of the ocular adnexa	6237	RRAS	ORPHA:648
HP:0032039	Abnormality of the ocular adnexa	6655	SOS2	ORPHA:648
HP:0032039	Abnormality of the ocular adnexa	6655	SOS2	OMIM:616559
HP:0032039	Abnormality of the ocular adnexa	5922	RASA2	ORPHA:648
HP:0032039	Abnormality of the ocular adnexa	84081	NSRP1	OMIM:620001
HP:0032039	Abnormality of the ocular adnexa	9897	WASHC5	ORPHA:7
HP:0032039	Abnormality of the ocular adnexa	9897	WASHC5	OMIM:220210
HP:0032039	Abnormality of the ocular adnexa	28952	CCDC22	ORPHA:7
HP:0032039	Abnormality of the ocular adnexa	80704	SLC19A3	ORPHA:263410
HP:0032039	Abnormality of the ocular adnexa	51109	RDH11	ORPHA:436245
HP:0032039	Abnormality of the ocular adnexa	7042	TGFB2	OMIM:614816
HP:0032039	Abnormality of the ocular adnexa	54084	TSPEAR	OMIM:618180
HP:0032039	Abnormality of the ocular adnexa	324	APC	ORPHA:261584
HP:0032039	Abnormality of the ocular adnexa	324	APC	ORPHA:3258
HP:0032039	Abnormality of the ocular adnexa	1183	CLCN4	OMIM:300114
HP:0032039	Abnormality of the ocular adnexa	5034	P4HB	ORPHA:2050
HP:0032039	Abnormality of the ocular adnexa	23241	PACS2	OMIM:618067
HP:0032039	Abnormality of the ocular adnexa	84282	RNF135	ORPHA:137634
HP:0032039	Abnormality of the ocular adnexa	8854	ALDH1A2	OMIM:620025
HP:0032039	Abnormality of the ocular adnexa	1299	COL9A3	OMIM:620022
HP:0032039	Abnormality of the ocular adnexa	64324	NSD1	ORPHA:821
HP:0032039	Abnormality of the ocular adnexa	64324	NSD1	OMIM:117550
HP:0032039	Abnormality of the ocular adnexa	64324	NSD1	ORPHA:3447
HP:0032039	Abnormality of the ocular adnexa	10297	APC2	ORPHA:821
HP:0032039	Abnormality of the ocular adnexa	23431	AP4E1	OMIM:613744
HP:0032039	Abnormality of the ocular adnexa	150468	CKAP2L	ORPHA:3255
HP:0032039	Abnormality of the ocular adnexa	271	AMPD2	OMIM:615809
HP:0032039	Abnormality of the ocular adnexa	9382	COG1	OMIM:611209
HP:0032039	Abnormality of the ocular adnexa	9382	COG1	ORPHA:263508
HP:0032039	Abnormality of the ocular adnexa	4038	LRP4	ORPHA:3258
HP:0032039	Abnormality of the ocular adnexa	4038	LRP4	OMIM:212780
HP:0032039	Abnormality of the ocular adnexa	4036	LRP2	ORPHA:2143
HP:0032039	Abnormality of the ocular adnexa	4036	LRP2	OMIM:222448
HP:0032039	Abnormality of the ocular adnexa	1302	COL11A2	ORPHA:2021
HP:0032039	Abnormality of the ocular adnexa	657	BMPR1A	ORPHA:79076
HP:0032039	Abnormality of the ocular adnexa	197257	LDHD	OMIM:245450
HP:0032039	Abnormality of the ocular adnexa	55719	SLF2	OMIM:620184
HP:0032039	Abnormality of the ocular adnexa	55027	HEATR3	OMIM:620072
HP:0032039	Abnormality of the ocular adnexa	9652	SKIC3	OMIM:222470
HP:0032039	Abnormality of the ocular adnexa	545	ATR	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	545	ATR	OMIM:210600
HP:0032039	Abnormality of the ocular adnexa	1062	CENPE	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	5932	RBBP8	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	79902	NUP85	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	84126	ATRIP	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	55835	CENPJ	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	10293	TRAIP	ORPHA:808
HP:0032039	Abnormality of the ocular adnexa	84317	CCDC115	OMIM:616828
HP:0032039	Abnormality of the ocular adnexa	83479	DDX59	OMIM:174300
HP:0032039	Abnormality of the ocular adnexa	84679	SLC9A7	OMIM:301024
HP:0032039	Abnormality of the ocular adnexa	90161	HS6ST2	OMIM:301025
HP:0032039	Abnormality of the ocular adnexa	63035	BCORL1	OMIM:301029
HP:0032039	Abnormality of the ocular adnexa	1778	DYNC1H1	OMIM:614563
HP:0032039	Abnormality of the ocular adnexa	2248	FGF3	ORPHA:90024
HP:0032039	Abnormality of the ocular adnexa	5718	PSMD12	ORPHA:529962
HP:0032039	Abnormality of the ocular adnexa	538	ATP7A	ORPHA:198
HP:0032039	Abnormality of the ocular adnexa	8929	PHOX2B	OMIM:209880
HP:0032039	Abnormality of the ocular adnexa	91461	PKDCC	OMIM:618821
HP:0032039	Abnormality of the ocular adnexa	80152	CENPT	OMIM:618702
HP:0032039	Abnormality of the ocular adnexa	26047	CNTNAP2	ORPHA:163681
HP:0032039	Abnormality of the ocular adnexa	23630	KCNE5	ORPHA:86818
HP:0032039	Abnormality of the ocular adnexa	2182	ACSL4	ORPHA:86818
HP:0032039	Abnormality of the ocular adnexa	2273	FHL1	OMIM:300280
HP:0032039	Abnormality of the ocular adnexa	8777	MPDZ	OMIM:615219
HP:0032039	Abnormality of the ocular adnexa	3778	KCNMA1	OMIM:618729
HP:0032039	Abnormality of the ocular adnexa	26229	B3GAT3	OMIM:245600
HP:0032039	Abnormality of the ocular adnexa	5307	PITX1	OMIM:119800
HP:0032039	Abnormality of the ocular adnexa	18	ABAT	OMIM:613163
HP:0032039	Abnormality of the ocular adnexa	7545	ZIC1	OMIM:618736
HP:0032039	Abnormality of the ocular adnexa	4858	NOVA2	OMIM:618859
HP:0032039	Abnormality of the ocular adnexa	55753	OGDHL	OMIM:619701
HP:0032039	Abnormality of the ocular adnexa	348	APOE	ORPHA:158029
HP:0032039	Abnormality of the ocular adnexa	6868	ADAM17	OMIM:614328
HP:0032039	Abnormality of the ocular adnexa	6868	ADAM17	ORPHA:294023
HP:0032039	Abnormality of the ocular adnexa	10095	ARPC1B	OMIM:617718
HP:0032039	Abnormality of the ocular adnexa	6768	ST14	OMIM:602400
HP:0032039	Abnormality of the ocular adnexa	10758	TRAF3IP2	OMIM:615527
HP:0032039	Abnormality of the ocular adnexa	1474	CST6	OMIM:618535
HP:0032039	Abnormality of the ocular adnexa	6307	MSMO1	OMIM:616834
HP:0032039	Abnormality of the ocular adnexa	147409	DSG4	ORPHA:573
HP:0032039	Abnormality of the ocular adnexa	3892	KRT86	ORPHA:573
HP:0032039	Abnormality of the ocular adnexa	3889	KRT83	ORPHA:573
HP:0032039	Abnormality of the ocular adnexa	3887	KRT81	ORPHA:573
HP:0032039	Abnormality of the ocular adnexa	1041	CDSN	ORPHA:90368
HP:0032039	Abnormality of the ocular adnexa	121391	KRT74	ORPHA:90368
HP:0032039	Abnormality of the ocular adnexa	121391	KRT74	OMIM:194300
HP:0032039	Abnormality of the ocular adnexa	121391	KRT74	OMIM:613981
HP:0032039	Abnormality of the ocular adnexa	85378	TUBGCP6	ORPHA:2518
HP:0032039	Abnormality of the ocular adnexa	27229	TUBGCP4	ORPHA:2518
HP:0032039	Abnormality of the ocular adnexa	10733	PLK4	ORPHA:2518
HP:0032039	Abnormality of the ocular adnexa	22947	DUX4L1	ORPHA:269
HP:0032039	Abnormality of the ocular adnexa	2483	FRG1	ORPHA:269
HP:0032039	Abnormality of the ocular adnexa	23347	SMCHD1	ORPHA:269
HP:0032039	Abnormality of the ocular adnexa	100288687	DUX4	ORPHA:269
HP:0032039	Abnormality of the ocular adnexa	124583	CANT1	ORPHA:1425
HP:0032039	Abnormality of the ocular adnexa	55790	CSGALNACT1	ORPHA:1425
HP:0032039	Abnormality of the ocular adnexa	80169	CTC1	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	26277	TINF2	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	55651	NHP2	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	55135	WRAP53	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	51750	RTEL1	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	4869	NPM1	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	7012	TERC	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	55505	NOP10	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	5073	PARN	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	7015	TERT	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	7298	TYMS	ORPHA:1775
HP:0032039	Abnormality of the ocular adnexa	355	FAS	ORPHA:3437
HP:0032039	Abnormality of the ocular adnexa	26191	PTPN22	ORPHA:3437
HP:0032039	Abnormality of the ocular adnexa	5333	PLCD1	ORPHA:2387
HP:0032039	Abnormality of the ocular adnexa	427	ASAH1	ORPHA:333
HP:0032039	Abnormality of the ocular adnexa	3861	KRT14	OMIM:125595
HP:0032039	Abnormality of the ocular adnexa	56244	BTNL2	ORPHA:797
HP:0032039	Abnormality of the ocular adnexa	3123	HLA-DRB1	ORPHA:797
HP:0032039	Abnormality of the ocular adnexa	3851	KRT4	OMIM:193900
HP:0032039	Abnormality of the ocular adnexa	2517	FUCA1	OMIM:230000
HP:0032039	Abnormality of the ocular adnexa	55129	ANO10	ORPHA:284289
HP:0032039	Abnormality of the ocular adnexa	55129	ANO10	OMIM:613728
HP:0032039	Abnormality of the ocular adnexa	4668	NAGA	OMIM:609242
HP:0032039	Abnormality of the ocular adnexa	4126	MANBA	OMIM:248510
HP:0032039	Abnormality of the ocular adnexa	10682	EBP	ORPHA:401973
HP:0032039	Abnormality of the ocular adnexa	128	ADH5	OMIM:619151
HP:0032039	Abnormality of the ocular adnexa	7528	YY1	ORPHA:506358
HP:0032039	Abnormality of the ocular adnexa	7528	YY1	OMIM:617557
HP:0032039	Abnormality of the ocular adnexa	23141	ANKLE2	OMIM:616681
HP:0032039	Abnormality of the ocular adnexa	894	CCND2	ORPHA:83473
HP:0032039	Abnormality of the ocular adnexa	10000	AKT3	ORPHA:83473
HP:0032039	Abnormality of the ocular adnexa	56172	ANKH	ORPHA:1522
HP:0032039	Abnormality of the ocular adnexa	3265	HRAS	ORPHA:2612
HP:0032039	Abnormality of the ocular adnexa	4893	NRAS	ORPHA:2612
HP:0032039	Abnormality of the ocular adnexa	26128	KIFBP	OMIM:609460
HP:0032039	Abnormality of the ocular adnexa	23135	KDM6B	OMIM:618505
HP:0032039	Abnormality of the ocular adnexa	57539	WDR35	OMIM:613610
HP:0032039	Abnormality of the ocular adnexa	3008	H1-4	OMIM:617537
HP:0032039	Abnormality of the ocular adnexa	7518	XRCC4	ORPHA:99812
HP:0032039	Abnormality of the ocular adnexa	3981	LIG4	ORPHA:99812
HP:0032039	Abnormality of the ocular adnexa	3981	LIG4	ORPHA:235
HP:0032039	Abnormality of the ocular adnexa	1836	SLC26A2	ORPHA:56304
HP:0032039	Abnormality of the ocular adnexa	4784	NFIX	ORPHA:447980
HP:0032039	Abnormality of the ocular adnexa	2316	FLNA	OMIM:300244
HP:0032039	Abnormality of the ocular adnexa	4281	MID1	OMIM:300000
HP:0032039	Abnormality of the ocular adnexa	4281	MID1	ORPHA:2745
HP:0032039	Abnormality of the ocular adnexa	2737	GLI3	ORPHA:380
HP:0032039	Abnormality of the ocular adnexa	2317	FLNB	ORPHA:1190
HP:0032039	Abnormality of the ocular adnexa	4010	LMX1B	ORPHA:495818
HP:0032039	Abnormality of the ocular adnexa	6812	STXBP1	ORPHA:495818
HP:0032039	Abnormality of the ocular adnexa	6197	RPS6KA3	OMIM:303600
HP:0032039	Abnormality of the ocular adnexa	79029	AFG2B	OMIM:619616
HP:0032039	Abnormality of the ocular adnexa	284252	KCTD1	ORPHA:2036
HP:0032039	Abnormality of the ocular adnexa	284252	KCTD1	OMIM:181270
HP:0032039	Abnormality of the ocular adnexa	546	ATRX	ORPHA:847
HP:0032039	Abnormality of the ocular adnexa	7020	TFAP2A	OMIM:113620
HP:0032039	Abnormality of the ocular adnexa	1281	COL3A1	ORPHA:286
HP:0032039	Abnormality of the ocular adnexa	9839	ZEB2	ORPHA:261552
HP:0032039	Abnormality of the ocular adnexa	9839	ZEB2	ORPHA:261537
HP:0032039	Abnormality of the ocular adnexa	6885	MAP3K7	OMIM:157800
HP:0032039	Abnormality of the ocular adnexa	55148	UBR7	OMIM:619189
HP:0032039	Abnormality of the ocular adnexa	26005	C2CD3	OMIM:615948
HP:0032039	Abnormality of the ocular adnexa	26005	C2CD3	ORPHA:434179
HP:0032039	Abnormality of the ocular adnexa	3192	HNRNPU	ORPHA:238769
HP:0032039	Abnormality of the ocular adnexa	54888	NSUN2	ORPHA:235
HP:0032039	Abnormality of the ocular adnexa	54888	NSUN2	OMIM:611091
HP:0032039	Abnormality of the ocular adnexa	1947	EFNB1	OMIM:304110
HP:0032039	Abnormality of the ocular adnexa	8558	CDK10	OMIM:617694
HP:0032039	Abnormality of the ocular adnexa	23259	DDHD2	OMIM:615033
HP:0032039	Abnormality of the ocular adnexa	9091	PIGQ	OMIM:618548
HP:0032039	Abnormality of the ocular adnexa	79796	ALG9	ORPHA:79328
HP:0032039	Abnormality of the ocular adnexa	79796	ALG9	OMIM:263210
HP:0032039	Abnormality of the ocular adnexa	4286	MITF	OMIM:193510
HP:0032039	Abnormality of the ocular adnexa	4286	MITF	ORPHA:897
HP:0032039	Abnormality of the ocular adnexa	4286	MITF	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	7750	ZMYM2	OMIM:619522
HP:0032039	Abnormality of the ocular adnexa	51098	IFT52	OMIM:617102
HP:0032039	Abnormality of the ocular adnexa	113179	ADAT3	OMIM:615286
HP:0032039	Abnormality of the ocular adnexa	113179	ADAT3	ORPHA:363528
HP:0032039	Abnormality of the ocular adnexa	92002	CCNQ	ORPHA:140952
HP:0032039	Abnormality of the ocular adnexa	92002	CCNQ	OMIM:300707
HP:0032039	Abnormality of the ocular adnexa	8481	OFD1	OMIM:311200
HP:0032039	Abnormality of the ocular adnexa	8481	OFD1	ORPHA:2750
HP:0032039	Abnormality of the ocular adnexa	57688	ZSWIM6	OMIM:603671
HP:0032039	Abnormality of the ocular adnexa	57688	ZSWIM6	ORPHA:1827
HP:0032039	Abnormality of the ocular adnexa	5727	PTCH1	ORPHA:377
HP:0032039	Abnormality of the ocular adnexa	8643	PTCH2	ORPHA:377
HP:0032039	Abnormality of the ocular adnexa	51684	SUFU	ORPHA:377
HP:0032039	Abnormality of the ocular adnexa	5295	PIK3R1	OMIM:269880
HP:0032039	Abnormality of the ocular adnexa	5295	PIK3R1	ORPHA:3163
HP:0032039	Abnormality of the ocular adnexa	54941	RNF125	OMIM:616260
HP:0032039	Abnormality of the ocular adnexa	5077	PAX3	OMIM:193500
HP:0032039	Abnormality of the ocular adnexa	5077	PAX3	ORPHA:896
HP:0032039	Abnormality of the ocular adnexa	5077	PAX3	OMIM:148820
HP:0032039	Abnormality of the ocular adnexa	5077	PAX3	ORPHA:894
HP:0032039	Abnormality of the ocular adnexa	5077	PAX3	OMIM:122880
HP:0032039	Abnormality of the ocular adnexa	112752	IFT43	OMIM:614099
HP:0032039	Abnormality of the ocular adnexa	51013	EXOSC1	OMIM:619304
HP:0032039	Abnormality of the ocular adnexa	6497	SKI	ORPHA:2462
HP:0032039	Abnormality of the ocular adnexa	6497	SKI	OMIM:182212
HP:0032039	Abnormality of the ocular adnexa	55593	OTUD5	OMIM:301056
HP:0032039	Abnormality of the ocular adnexa	5308	PITX2	ORPHA:782
HP:0032039	Abnormality of the ocular adnexa	2296	FOXC1	ORPHA:782
HP:0032039	Abnormality of the ocular adnexa	128869	PIGU	OMIM:618590
HP:0032039	Abnormality of the ocular adnexa	4854	NOTCH3	OMIM:130720
HP:0032039	Abnormality of the ocular adnexa	57520	HECW2	OMIM:617268
HP:0032039	Abnormality of the ocular adnexa	117581	TWIST2	ORPHA:1231
HP:0032039	Abnormality of the ocular adnexa	117581	TWIST2	OMIM:209885
HP:0032039	Abnormality of the ocular adnexa	1908	EDN3	ORPHA:897
HP:0032039	Abnormality of the ocular adnexa	1910	EDNRB	ORPHA:897
HP:0032039	Abnormality of the ocular adnexa	1910	EDNRB	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	6663	SOX10	ORPHA:897
HP:0032039	Abnormality of the ocular adnexa	6663	SOX10	ORPHA:163746
HP:0032039	Abnormality of the ocular adnexa	6663	SOX10	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	3417	IDH1	ORPHA:99646
HP:0032039	Abnormality of the ocular adnexa	4621	MYH3	OMIM:193700
HP:0032039	Abnormality of the ocular adnexa	4621	MYH3	ORPHA:2990
HP:0032039	Abnormality of the ocular adnexa	10265	IRX5	OMIM:611174
HP:0032039	Abnormality of the ocular adnexa	7468	NSD2	OMIM:619695
HP:0032039	Abnormality of the ocular adnexa	29940	DSE	OMIM:615539
HP:0032039	Abnormality of the ocular adnexa	1312	COMT	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	221037	JMJD1C	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	2812	GP1BB	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	6239	RREB1	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	7290	HIRA	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	9632	SEC24C	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	7353	UFD1	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	421	ARVCF	ORPHA:567
HP:0032039	Abnormality of the ocular adnexa	1000	CDH2	OMIM:618929
HP:0032039	Abnormality of the ocular adnexa	55764	IFT122	OMIM:218330
HP:0032039	Abnormality of the ocular adnexa	10943	MSL3	OMIM:301032
HP:0032039	Abnormality of the ocular adnexa	9509	ADAMTS2	OMIM:225410
HP:0032039	Abnormality of the ocular adnexa	5745	PTH1R	ORPHA:50945
HP:0032039	Abnormality of the ocular adnexa	9419	CRIPT	OMIM:615789
HP:0032039	Abnormality of the ocular adnexa	9343	EFTUD2	OMIM:610536
HP:0032039	Abnormality of the ocular adnexa	9343	EFTUD2	ORPHA:79113
HP:0032039	Abnormality of the ocular adnexa	11285	B4GALT7	ORPHA:75496
HP:0032039	Abnormality of the ocular adnexa	80036	TRPM3	OMIM:620224
HP:0032039	Abnormality of the ocular adnexa	80781	COL18A1	OMIM:267750
HP:0032039	Abnormality of the ocular adnexa	113189	CHST14	OMIM:601776
HP:0032039	Abnormality of the ocular adnexa	51715	RAB23	OMIM:201000
HP:0032039	Abnormality of the ocular adnexa	114928	GPRASP2	OMIM:301018
HP:0032039	Abnormality of the ocular adnexa	202018	TAPT1	OMIM:616897
HP:0032039	Abnormality of the ocular adnexa	2890	GRIA1	OMIM:619927
HP:0032039	Abnormality of the ocular adnexa	7299	TYR	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	6591	SNAI2	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	4254	KITLG	ORPHA:895
HP:0032039	Abnormality of the ocular adnexa	4254	KITLG	OMIM:619947
HP:0032039	Abnormality of the ocular adnexa	403	ARL3	OMIM:618161
HP:0032039	Abnormality of the ocular adnexa	10084	PQBP1	OMIM:309500
HP:0032039	Abnormality of the ocular adnexa	55733	HHAT	ORPHA:1422
HP:0032039	Abnormality of the ocular adnexa	170692	ADAMTS18	OMIM:615458
HP:0032039	Abnormality of the ocular adnexa	10584	COLEC10	ORPHA:293843
HP:0032039	Abnormality of the ocular adnexa	78989	COLEC11	ORPHA:293843
HP:0032039	Abnormality of the ocular adnexa	1146	CHRNG	ORPHA:2990
HP:0032039	Abnormality of the ocular adnexa	4750	NEK1	ORPHA:2751
HP:0032039	Abnormality of the ocular adnexa	11011	TLK2	OMIM:618050
HP:0032039	Abnormality of the ocular adnexa	129285	PPP1R21	OMIM:619383
HP:0032039	Abnormality of the ocular adnexa	23102	TBC1D2B	ORPHA:397973
HP:0032039	Abnormality of the ocular adnexa	84148	KAT8	OMIM:618974
HP:0032039	Abnormality of the ocular adnexa	4654	MYOD1	OMIM:618975
HP:0032039	Abnormality of the ocular adnexa	2108	ETFA	OMIM:231680
HP:0032039	Abnormality of the ocular adnexa	2109	ETFB	OMIM:231680
HP:0032039	Abnormality of the ocular adnexa	2110	ETFDH	OMIM:231680
HP:0032039	Abnormality of the ocular adnexa	10804	GJB6	ORPHA:477
HP:0032039	Abnormality of the ocular adnexa	10804	GJB6	OMIM:129500
HP:0032039	Abnormality of the ocular adnexa	2706	GJB2	ORPHA:477
HP:0032039	Abnormality of the ocular adnexa	695	BTK	OMIM:300755
HP:0032039	Abnormality of the ocular adnexa	695	BTK	ORPHA:47
HP:0032039	Abnormality of the ocular adnexa	695	BTK	OMIM:307200
HP:0032039	Abnormality of the ocular adnexa	930	CD19	OMIM:613493
HP:0032039	Abnormality of the ocular adnexa	930	CD19	OMIM:240500
HP:0032039	Abnormality of the ocular adnexa	114548	NLRP3	OMIM:617772
HP:0032039	Abnormality of the ocular adnexa	114548	NLRP3	OMIM:191900
HP:0032039	Abnormality of the ocular adnexa	114548	NLRP3	ORPHA:575
HP:0032039	Abnormality of the ocular adnexa	114548	NLRP3	ORPHA:47045
HP:0032039	Abnormality of the ocular adnexa	114548	NLRP3	OMIM:120100
HP:0032039	Abnormality of the ocular adnexa	987	LRBA	OMIM:614700
HP:0032039	Abnormality of the ocular adnexa	7454	WAS	ORPHA:906
HP:0032039	Abnormality of the ocular adnexa	7456	WIPF1	ORPHA:906
HP:0032039	Abnormality of the ocular adnexa	1736	DKC1	OMIM:305000
HP:0032039	Abnormality of the ocular adnexa	1776	DNASE1L3	ORPHA:36412
HP:0032039	Abnormality of the ocular adnexa	2778	GNAS	ORPHA:94089
HP:0032039	Abnormality of the ocular adnexa	2778	GNAS	ORPHA:79443
HP:0032039	Abnormality of the ocular adnexa	2778	GNAS	ORPHA:79444
HP:0032039	Abnormality of the ocular adnexa	8675	STX16	ORPHA:94089
HP:0032039	Abnormality of the ocular adnexa	1161	ERCC8	ORPHA:90321
HP:0032039	Abnormality of the ocular adnexa	1161	ERCC8	ORPHA:90322
HP:0032039	Abnormality of the ocular adnexa	2074	ERCC6	ORPHA:90321
HP:0032039	Abnormality of the ocular adnexa	2074	ERCC6	ORPHA:90322
HP:0032039	Abnormality of the ocular adnexa	2074	ERCC6	OMIM:278800
HP:0032039	Abnormality of the ocular adnexa	79650	USB1	OMIM:604173
HP:0032039	Abnormality of the ocular adnexa	2067	ERCC1	ORPHA:90322
HP:0032039	Abnormality of the ocular adnexa	3507	IGHM	OMIM:601495
HP:0032039	Abnormality of the ocular adnexa	3507	IGHM	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	55630	SLC39A4	ORPHA:37
HP:0032039	Abnormality of the ocular adnexa	8676	STX11	OMIM:603552
HP:0032039	Abnormality of the ocular adnexa	5896	RAG1	OMIM:601457
HP:0032039	Abnormality of the ocular adnexa	5897	RAG2	OMIM:601457
HP:0032039	Abnormality of the ocular adnexa	3106	HLA-B	ORPHA:29207
HP:0032039	Abnormality of the ocular adnexa	3106	HLA-B	ORPHA:36426
HP:0032039	Abnormality of the ocular adnexa	1294	COL7A1	OMIM:226600
HP:0032039	Abnormality of the ocular adnexa	4312	MMP1	OMIM:226600
HP:0032039	Abnormality of the ocular adnexa	162	AP1B1	OMIM:242150
HP:0032039	Abnormality of the ocular adnexa	5075	PAX1	OMIM:615560
HP:0032039	Abnormality of the ocular adnexa	974	CD79B	OMIM:612692
HP:0032039	Abnormality of the ocular adnexa	974	CD79B	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	5429	POLH	OMIM:278750
HP:0032039	Abnormality of the ocular adnexa	5340	PLG	OMIM:217090
HP:0032039	Abnormality of the ocular adnexa	7132	TNFRSF1A	ORPHA:32960
HP:0032039	Abnormality of the ocular adnexa	7132	TNFRSF1A	OMIM:142680
HP:0032039	Abnormality of the ocular adnexa	7086	TKT	ORPHA:488618
HP:0032039	Abnormality of the ocular adnexa	29851	ICOS	OMIM:607594
HP:0032039	Abnormality of the ocular adnexa	29851	ICOS	OMIM:240500
HP:0032039	Abnormality of the ocular adnexa	10320	IKZF1	ORPHA:36426
HP:0032039	Abnormality of the ocular adnexa	23495	TNFRSF13B	OMIM:240500
HP:0032039	Abnormality of the ocular adnexa	115650	TNFRSF13C	OMIM:240500
HP:0032039	Abnormality of the ocular adnexa	1380	CR2	OMIM:240500
HP:0032039	Abnormality of the ocular adnexa	55612	FERMT1	ORPHA:2908
HP:0032039	Abnormality of the ocular adnexa	5692	PSMB4	OMIM:617591
HP:0032039	Abnormality of the ocular adnexa	5698	PSMB9	OMIM:617591
HP:0032039	Abnormality of the ocular adnexa	7037	TFRC	OMIM:616740
HP:0032039	Abnormality of the ocular adnexa	686	BTD	OMIM:253260
HP:0032039	Abnormality of the ocular adnexa	686	BTD	ORPHA:79241
HP:0032039	Abnormality of the ocular adnexa	2077	ERF	ORPHA:207
HP:0032039	Abnormality of the ocular adnexa	404672	GTF2H5	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	833	CARS1	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	7737	RNF113A	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	136647	MPLKIP	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	6897	TARS1	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	2961	GTF2E2	ORPHA:33364
HP:0032039	Abnormality of the ocular adnexa	2303	FOXC2	ORPHA:33001
HP:0032039	Abnormality of the ocular adnexa	2303	FOXC2	OMIM:153400
HP:0032039	Abnormality of the ocular adnexa	54809	SAMD9	OMIM:610455
HP:0032039	Abnormality of the ocular adnexa	5696	PSMB8	OMIM:256040
HP:0032039	Abnormality of the ocular adnexa	6929	TCF3	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	973	CD79A	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	3543	IGLL1	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	29760	BLNK	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	56262	LRRC8A	ORPHA:33110
HP:0032039	Abnormality of the ocular adnexa	94	ACVRL1	OMIM:600376
HP:0032039	Abnormality of the ocular adnexa	94	ACVRL1	ORPHA:774
HP:0032039	Abnormality of the ocular adnexa	2658	GDF2	ORPHA:774
HP:0032039	Abnormality of the ocular adnexa	2022	ENG	ORPHA:774
HP:0032039	Abnormality of the ocular adnexa	2022	ENG	OMIM:187300
HP:0032039	Abnormality of the ocular adnexa	3978	LIG1	OMIM:619774
HP:0032039	Abnormality of the ocular adnexa	23328	SASH1	OMIM:618373
HP:0032039	Abnormality of the ocular adnexa	4683	NBN	OMIM:251260
HP:0032039	Abnormality of the ocular adnexa	5648	MASP1	OMIM:257920
HP:0032039	Abnormality of the ocular adnexa	472	ATM	OMIM:208900
HP:0032039	Abnormality of the ocular adnexa	23064	SETX	OMIM:606002
HP:0032039	Abnormality of the ocular adnexa	5190	PEX6	ORPHA:95433
HP:0032039	Abnormality of the ocular adnexa	165918	RNF168	ORPHA:420741
HP:0032039	Abnormality of the ocular adnexa	5111	PCNA	OMIM:615919
HP:0032039	Abnormality of the ocular adnexa	5476	CTSA	OMIM:256540
HP:0032039	Abnormality of the ocular adnexa	2717	GLA	ORPHA:324
HP:0032039	Abnormality of the ocular adnexa	2068	ERCC2	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	7507	XPA	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	2071	ERCC3	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	7508	XPC	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	1643	DDB2	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	2073	ERCC5	ORPHA:910
HP:0032039	Abnormality of the ocular adnexa	2776	GNAQ	ORPHA:3205
HP:0032039	Abnormality of the ocular adnexa	8243	SMC1A	OMIM:300590
HP:0032039	Abnormality of the ocular adnexa	8243	SMC1A	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	8036	SHOC2	OMIM:607721
HP:0032039	Abnormality of the ocular adnexa	11253	MAN1B1	ORPHA:397941
HP:0032039	Abnormality of the ocular adnexa	9853	RUSC2	OMIM:617773
HP:0032039	Abnormality of the ocular adnexa	6228	RPS23	OMIM:617412
HP:0032039	Abnormality of the ocular adnexa	4897	NRCAM	OMIM:619833
HP:0032039	Abnormality of the ocular adnexa	10586	MAB21L2	OMIM:615877
HP:0032039	Abnormality of the ocular adnexa	10274	STAG1	ORPHA:502434
HP:0032039	Abnormality of the ocular adnexa	85358	SHANK3	OMIM:606232
HP:0032039	Abnormality of the ocular adnexa	85358	SHANK3	ORPHA:48652
HP:0032039	Abnormality of the ocular adnexa	27125	AFF4	ORPHA:444077
HP:0032039	Abnormality of the ocular adnexa	27125	AFF4	OMIM:616368
HP:0032039	Abnormality of the ocular adnexa	55869	HDAC8	OMIM:300882
HP:0032039	Abnormality of the ocular adnexa	55869	HDAC8	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	10847	SRCAP	OMIM:136140
HP:0032039	Abnormality of the ocular adnexa	1436	CSF1R	OMIM:618476
HP:0032039	Abnormality of the ocular adnexa	9578	CDC42BPB	OMIM:619841
HP:0032039	Abnormality of the ocular adnexa	29998	BICRA	OMIM:619325
HP:0032039	Abnormality of the ocular adnexa	80816	ASXL3	OMIM:615485
HP:0032039	Abnormality of the ocular adnexa	6536	SLC6A9	OMIM:617301
HP:0032039	Abnormality of the ocular adnexa	51506	UFC1	OMIM:618076
HP:0032039	Abnormality of the ocular adnexa	9442	MED27	OMIM:619286
HP:0032039	Abnormality of the ocular adnexa	65082	VPS33A	OMIM:617303
HP:0032039	Abnormality of the ocular adnexa	65082	VPS33A	ORPHA:505248
HP:0032039	Abnormality of the ocular adnexa	526	ATP6V1B2	OMIM:616455
HP:0032039	Abnormality of the ocular adnexa	526	ATP6V1B2	ORPHA:3473
HP:0032039	Abnormality of the ocular adnexa	55690	PACS1	OMIM:615009
HP:0032039	Abnormality of the ocular adnexa	55690	PACS1	ORPHA:329224
HP:0032039	Abnormality of the ocular adnexa	4081	MAB21L1	OMIM:618479
HP:0032039	Abnormality of the ocular adnexa	2250	FGF5	OMIM:190330
HP:0032039	Abnormality of the ocular adnexa	10908	PNPLA6	OMIM:275400
HP:0032039	Abnormality of the ocular adnexa	3764	KCNJ8	ORPHA:1517
HP:0032039	Abnormality of the ocular adnexa	10060	ABCC9	ORPHA:1517
HP:0032039	Abnormality of the ocular adnexa	10060	ABCC9	OMIM:239850
HP:0032039	Abnormality of the ocular adnexa	9126	SMC3	OMIM:610759
HP:0032039	Abnormality of the ocular adnexa	9126	SMC3	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	55777	MBD5	OMIM:156200
HP:0032039	Abnormality of the ocular adnexa	23221	RHOBTB2	OMIM:618004
HP:0032039	Abnormality of the ocular adnexa	57492	ARID1B	OMIM:135900
HP:0032039	Abnormality of the ocular adnexa	1956	EGFR	OMIM:616069
HP:0032039	Abnormality of the ocular adnexa	6601	SMARCC2	OMIM:618362
HP:0032039	Abnormality of the ocular adnexa	4052	LTBP1	OMIM:619451
HP:0032039	Abnormality of the ocular adnexa	8260	NAA10	OMIM:300855
HP:0032039	Abnormality of the ocular adnexa	80204	FBXO11	OMIM:618089
HP:0032039	Abnormality of the ocular adnexa	5119	CHMP1A	OMIM:614961
HP:0032039	Abnormality of the ocular adnexa	55603	TENT5A	OMIM:617952
HP:0032039	Abnormality of the ocular adnexa	4853	NOTCH2	OMIM:102500
HP:0032039	Abnormality of the ocular adnexa	8289	ARID1A	OMIM:614607
HP:0032039	Abnormality of the ocular adnexa	2200	FBN1	ORPHA:969
HP:0032039	Abnormality of the ocular adnexa	2200	FBN1	OMIM:102370
HP:0032039	Abnormality of the ocular adnexa	4054	LTBP3	ORPHA:969
HP:0032039	Abnormality of the ocular adnexa	6598	SMARCB1	OMIM:614608
HP:0032039	Abnormality of the ocular adnexa	6597	SMARCA4	OMIM:614609
HP:0032039	Abnormality of the ocular adnexa	9377	COX5A	OMIM:619064
HP:0032039	Abnormality of the ocular adnexa	6045	RNF2	OMIM:619460
HP:0032039	Abnormality of the ocular adnexa	6872	TAF1	ORPHA:480907
HP:0032039	Abnormality of the ocular adnexa	23258	DENND5A	OMIM:617281
HP:0032039	Abnormality of the ocular adnexa	9496	TBX4	ORPHA:261279
HP:0032039	Abnormality of the ocular adnexa	1105	CHD1	OMIM:617682
HP:0032039	Abnormality of the ocular adnexa	22872	SEC31A	OMIM:618651
HP:0032039	Abnormality of the ocular adnexa	283987	HID1	OMIM:619983
HP:0032039	Abnormality of the ocular adnexa	23314	SATB2	OMIM:612313
HP:0032039	Abnormality of the ocular adnexa	3782	KCNN3	OMIM:618658
HP:0032039	Abnormality of the ocular adnexa	3782	KCNN3	ORPHA:3473
HP:0032039	Abnormality of the ocular adnexa	3756	KCNH1	ORPHA:3473
HP:0032039	Abnormality of the ocular adnexa	3756	KCNH1	ORPHA:420561
HP:0032039	Abnormality of the ocular adnexa	4247	MGAT2	OMIM:212066
HP:0032039	Abnormality of the ocular adnexa	4247	MGAT2	ORPHA:79329
HP:0032039	Abnormality of the ocular adnexa	23476	BRD4	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	25836	NIPBL	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	25836	NIPBL	OMIM:122470
HP:0032039	Abnormality of the ocular adnexa	5885	RAD21	ORPHA:199
HP:0032039	Abnormality of the ocular adnexa	50801	KCNK4	OMIM:618381
HP:0032039	Abnormality of the ocular adnexa	10664	CTCF	ORPHA:363611
HP:0032039	Abnormality of the ocular adnexa	10664	CTCF	OMIM:615502
HP:0032039	Abnormality of the ocular adnexa	57003	CCDC47	OMIM:618268
HP:0032039	Abnormality of the ocular adnexa	157680	VPS13B	ORPHA:193
HP:0032039	Abnormality of the ocular adnexa	9150	CTDP1	ORPHA:48431
HP:0032039	Abnormality of the ocular adnexa	149371	EXOC8	OMIM:619076
HP:0032039	Abnormality of the ocular adnexa	92609	TIMM50	OMIM:617698
HP:0032039	Abnormality of the ocular adnexa	85440	DOCK7	ORPHA:411986
HP:0032039	Abnormality of the ocular adnexa	85440	DOCK7	OMIM:615859
HP:0032039	Abnormality of the ocular adnexa	54499	TMCO1	OMIM:213980
HP:0032039	Abnormality of the ocular adnexa	283209	PGM2L1	OMIM:620191
HP:0032039	Abnormality of the ocular adnexa	4094	MAF	ORPHA:1272
HP:0032039	Abnormality of the ocular adnexa	374879	ZNF699	OMIM:619488
HP:0032039	Abnormality of the ocular adnexa	51305	KCNK9	OMIM:612292
HP:0032039	Abnormality of the ocular adnexa	1806	DPYD	ORPHA:1675
HP:0032039	Abnormality of the ocular adnexa	23261	CAMTA1	OMIM:614756
HP:0032039	Abnormality of the ocular adnexa	6605	SMARCE1	OMIM:616938
HP:0032039	Abnormality of the ocular adnexa	55343	SLC35C1	ORPHA:99843
HP:0032039	Abnormality of the ocular adnexa	55691	FRMD4A	OMIM:616819
HP:0032039	Abnormality of the ocular adnexa	55691	FRMD4A	ORPHA:466688
HP:0032039	Abnormality of the ocular adnexa	5495	PPM1B	ORPHA:163693
HP:0032039	Abnormality of the ocular adnexa	6519	SLC3A1	ORPHA:163693
HP:0032039	Abnormality of the ocular adnexa	9581	PREPL	ORPHA:163693
HP:0032039	Abnormality of the ocular adnexa	79823	CAMKMT	ORPHA:163693
HP:0032039	Abnormality of the ocular adnexa	55252	ASXL2	OMIM:617190
HP:0032039	Abnormality of the ocular adnexa	10463	SLC30A9	OMIM:617595
HP:0032039	Abnormality of the ocular adnexa	738	VPS51	OMIM:618606
HP:0032039	Abnormality of the ocular adnexa	4848	CNOT2	OMIM:618608
HP:0032039	Abnormality of the ocular adnexa	84842	HPDL	OMIM:619026
HP:0032039	Abnormality of the ocular adnexa	5881	RAC3	OMIM:618577
HP:0032039	Abnormality of the ocular adnexa	9181	ARHGEF2	OMIM:617523
HP:0032039	Abnormality of the ocular adnexa	6878	TAF6	OMIM:617126
HP:0032039	Abnormality of the ocular adnexa	7407	VARS1	OMIM:617802
HP:0032039	Abnormality of the ocular adnexa	64132	XYLT2	ORPHA:85194
HP:0032039	Abnormality of the ocular adnexa	10736	SIX2	ORPHA:488437
HP:0032039	Abnormality of the ocular adnexa	4035	LRP1	OMIM:604093
HP:0032039	Abnormality of the ocular adnexa	3229	HOXC13	OMIM:614931
HP:0032039	Abnormality of the ocular adnexa	10651	MTX2	ORPHA:90153
HP:0032039	Abnormality of the ocular adnexa	9131	AIFM1	OMIM:300232
HP:0032039	Abnormality of the ocular adnexa	9820	CUL7	ORPHA:2616
HP:0032039	Abnormality of the ocular adnexa	9820	CUL7	OMIM:273750
HP:0032039	Abnormality of the ocular adnexa	23363	OBSL1	ORPHA:2616
HP:0032039	Abnormality of the ocular adnexa	83987	CCDC8	ORPHA:2616
HP:0032039	Abnormality of the ocular adnexa	10479	SLC9A6	OMIM:300243
HP:0032039	Abnormality of the ocular adnexa	10479	SLC9A6	ORPHA:85278
HP:0032039	Abnormality of the ocular adnexa	10015	PDCD6IP	OMIM:620047
HP:0032039	Abnormality of the ocular adnexa	55280	CWF19L1	OMIM:616127
HP:0032039	Abnormality of the ocular adnexa	5593	PRKG2	OMIM:619636
HP:0032039	Abnormality of the ocular adnexa	285362	SUMF1	ORPHA:585
HP:0032039	Abnormality of the ocular adnexa	5700	PSMC1	OMIM:620071
HP:0032039	Abnormality of the ocular adnexa	81887	LAS1L	ORPHA:3459
HP:0032039	Abnormality of the ocular adnexa	81887	LAS1L	OMIM:309585
HP:0032039	Abnormality of the ocular adnexa	11160	ERLIN2	ORPHA:280384
HP:0032039	Abnormality of the ocular adnexa	11160	ERLIN2	ORPHA:209951
HP:0032039	Abnormality of the ocular adnexa	8091	HMGA2	ORPHA:94063
HP:0032039	Abnormality of the ocular adnexa	54361	WNT4	ORPHA:247768
HP:0032039	Abnormality of the ocular adnexa	50937	CDON	OMIM:614226
HP:0032039	Abnormality of the ocular adnexa	3425	IDUA	ORPHA:93473
HP:0032039	Abnormality of the ocular adnexa	2131	EXT1	ORPHA:502
HP:0032039	Abnormality of the ocular adnexa	2799	GNS	OMIM:252940
HP:0032039	Abnormality of the ocular adnexa	2990	GUSB	OMIM:253220
HP:0032039	Abnormality of the ocular adnexa	55331	ACER3	OMIM:617762
HP:0032039	Abnormality of the ocular adnexa	3166	HMX1	OMIM:612109
HP:0032039	Abnormality of the ocular adnexa	199857	ALG14	OMIM:619036
HP:0032039	Abnormality of the ocular adnexa	64220	STRA6	OMIM:601186
HP:0032039	Abnormality of the ocular adnexa	6608	SMO	OMIM:601707
HP:0032039	Abnormality of the ocular adnexa	27238	GPKOW	ORPHA:2570
HP:0032039	Abnormality of the ocular adnexa	91179	SCARF2	OMIM:600920
HP:0032039	Abnormality of the ocular adnexa	29895	MYL11	OMIM:619110
HP:0032039	Abnormality of the ocular adnexa	22931	RAB18	OMIM:614222
HP:0032039	Abnormality of the ocular adnexa	5557	PRIM1	OMIM:620005
HP:0032039	Abnormality of the ocular adnexa	104	ADARB1	OMIM:618862
HP:0032039	Abnormality of the ocular adnexa	7109	TRAPPC10	OMIM:620027
HP:0032039	Abnormality of the ocular adnexa	7109	TRAPPC10	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	4774	NFIA	OMIM:613735
HP:0032039	Abnormality of the ocular adnexa	197131	UBR1	OMIM:243800
HP:0032039	Abnormality of the ocular adnexa	2314	FLII	ORPHA:819
HP:0032039	Abnormality of the ocular adnexa	23096	IQSEC2	ORPHA:819
HP:0032039	Abnormality of the ocular adnexa	5191	PEX7	OMIM:215100
HP:0032039	Abnormality of the ocular adnexa	55697	VAC14	ORPHA:3472
HP:0032039	Abnormality of the ocular adnexa	26057	ANKRD17	OMIM:619504
HP:0032039	Abnormality of the ocular adnexa	1174	AP1S1	OMIM:609313
HP:0032039	Abnormality of the ocular adnexa	3043	HBB	ORPHA:231214
HP:0032039	Abnormality of the ocular adnexa	3043	HBB	ORPHA:231226
HP:0032039	Abnormality of the ocular adnexa	84879	MFSD2A	OMIM:616486
HP:0032039	Abnormality of the ocular adnexa	84879	MFSD2A	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	5063	PAK3	OMIM:300558
HP:0032039	Abnormality of the ocular adnexa	116115	ZNF526	OMIM:619877
HP:0032039	Abnormality of the ocular adnexa	8364	H4C3	OMIM:619758
HP:0032039	Abnormality of the ocular adnexa	55210	ATAD3A	ORPHA:496790
HP:0032039	Abnormality of the ocular adnexa	55210	ATAD3A	OMIM:617183
HP:0032039	Abnormality of the ocular adnexa	4849	CNOT3	OMIM:618672
HP:0032039	Abnormality of the ocular adnexa	182	JAG1	OMIM:118450
HP:0032039	Abnormality of the ocular adnexa	4208	MEF2C	ORPHA:228384
HP:0032039	Abnormality of the ocular adnexa	4208	MEF2C	OMIM:613443
HP:0032039	Abnormality of the ocular adnexa	4677	NARS1	OMIM:619092
HP:0032039	Abnormality of the ocular adnexa	8242	KDM5C	OMIM:300534
HP:0032039	Abnormality of the ocular adnexa	79989	IFT56	OMIM:619534
HP:0032039	Abnormality of the ocular adnexa	7546	ZIC2	OMIM:609637
HP:0032039	Abnormality of the ocular adnexa	7319	UBE2A	ORPHA:163956
HP:0032039	Abnormality of the ocular adnexa	7319	UBE2A	OMIM:300860
HP:0032039	Abnormality of the ocular adnexa	55770	EXOC2	OMIM:619306
HP:0032039	Abnormality of the ocular adnexa	9230	RAB11B	OMIM:617807
HP:0032039	Abnormality of the ocular adnexa	55081	IFT57	OMIM:617927
HP:0032039	Abnormality of the ocular adnexa	9488	PIGB	OMIM:618580
HP:0032039	Abnormality of the ocular adnexa	1859	DYRK1A	ORPHA:268261
HP:0032039	Abnormality of the ocular adnexa	7681	MKRN3	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	3653	IPW	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	791114	PWRN1	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	100033413	SNORD116-1	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	8924	HERC2	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	145624	PWAR1	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	23742	NPAP1	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	338433	SNORD115-1	OMIM:176270
HP:0032039	Abnormality of the ocular adnexa	6492	SIM1	ORPHA:171829
HP:0032039	Abnormality of the ocular adnexa	84162	BLTP1	OMIM:617822
HP:0032039	Abnormality of the ocular adnexa	55784	MCTP2	ORPHA:1596
HP:0032039	Abnormality of the ocular adnexa	3097	HIVEP2	OMIM:616977
HP:0032039	Abnormality of the ocular adnexa	4952	OCRL	ORPHA:534
HP:0032039	Abnormality of the ocular adnexa	6904	TBCD	ORPHA:496641
HP:0032039	Abnormality of the ocular adnexa	6904	TBCD	OMIM:617193
HP:0032039	Abnormality of the ocular adnexa	1741	DLG3	OMIM:300850
HP:0032039	Abnormality of the ocular adnexa	51116	MRPS2	OMIM:617950
HP:0032039	Abnormality of the ocular adnexa	55906	ZC4H2	OMIM:314580
HP:0032039	Abnormality of the ocular adnexa	9241	NOG	OMIM:186500
HP:0032039	Abnormality of the ocular adnexa	1781	DYNC1I2	OMIM:618492
HP:0032039	Abnormality of the ocular adnexa	9451	EIF2AK3	OMIM:226980
HP:0032039	Abnormality of the ocular adnexa	5277	PIGA	OMIM:300868
HP:0032039	Abnormality of the ocular adnexa	6638	SNRPN	ORPHA:177907
HP:0032039	Abnormality of the ocular adnexa	10771	ZMYND11	OMIM:616083
HP:0032039	Abnormality of the ocular adnexa	6611	SMS	ORPHA:3063
HP:0032039	Abnormality of the ocular adnexa	11212	PLPBP	OMIM:617290
HP:0032039	Abnormality of the ocular adnexa	84265	POLR3GL	OMIM:619234
HP:0032039	Abnormality of the ocular adnexa	51604	PIGT	ORPHA:369837
HP:0032039	Abnormality of the ocular adnexa	9894	TELO2	ORPHA:488642
HP:0032039	Abnormality of the ocular adnexa	25914	RTTN	ORPHA:468631
HP:0032039	Abnormality of the ocular adnexa	8936	WASF1	OMIM:618707
HP:0032039	Abnormality of the ocular adnexa	63932	STEEP1	OMIM:301013
HP:0032039	Abnormality of the ocular adnexa	54870	QRICH1	OMIM:617982
HP:0032039	Abnormality of the ocular adnexa	90416	CCDC32	OMIM:619123
HP:0032039	Abnormality of the ocular adnexa	6911	TBX6	ORPHA:1797
HP:0032039	Abnormality of the ocular adnexa	10551	AGR2	OMIM:620233
HP:0032039	Abnormality of the ocular adnexa	1315	COPB1	OMIM:619255
HP:0032039	Abnormality of the ocular adnexa	4724	NDUFS4	OMIM:252010
HP:0032039	Abnormality of the ocular adnexa	9276	COPB2	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	11113	CIT	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	9928	KIF14	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	284403	WDR62	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	55262	TRAPPC14	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	163786	SASS6	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	4176	MCM7	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	80254	CEP63	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	29081	METTL5	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	23310	NCAPD3	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	55755	CDK5RAP2	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	79648	MCPH1	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	6491	STIL	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	1911	PHC1	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	6884	TAF13	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	9662	CEP135	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	57082	KNL1	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	1021	CDK6	ORPHA:2512
HP:0032039	Abnormality of the ocular adnexa	23133	PHF8	OMIM:300263
HP:0032039	Abnormality of the ocular adnexa	11141	IL1RAPL1	OMIM:300143
HP:0032039	Abnormality of the ocular adnexa	10844	TUBGCP2	OMIM:618737
HP:0032039	Abnormality of the ocular adnexa	2138	EYA1	ORPHA:52429
HP:0032039	Abnormality of the ocular adnexa	6495	SIX1	ORPHA:52429
HP:0032039	Abnormality of the ocular adnexa	51360	MBTPS2	ORPHA:2273
HP:0032039	Abnormality of the ocular adnexa	330	BIRC3	ORPHA:52417
HP:0032039	Abnormality of the ocular adnexa	10892	MALT1	ORPHA:52417
HP:0032039	Abnormality of the ocular adnexa	27086	FOXP1	ORPHA:52417
HP:0032039	Abnormality of the ocular adnexa	3492	IGH	ORPHA:52417
HP:0032039	Abnormality of the ocular adnexa	8915	BCL10	ORPHA:52417
HP:0032039	Abnormality of the ocular adnexa	3832	KIF11	ORPHA:2526
HP:0032039	Abnormality of the ocular adnexa	9791	PTDSS1	ORPHA:2658
HP:0032039	Abnormality of the ocular adnexa	2260	FGFR1	ORPHA:2396
HP:0032039	Abnormality of the ocular adnexa	5189	PEX1	ORPHA:3220
HP:0032039	Abnormality of the ocular adnexa	54539	NDUFB11	ORPHA:2556
HP:0032039	Abnormality of the ocular adnexa	1349	COX7B	ORPHA:2556
HP:0032039	Abnormality of the ocular adnexa	3052	HCCS	ORPHA:2556
HP:0032039	Abnormality of the ocular adnexa	23592	LEMD3	ORPHA:166119
HP:0032039	Abnormality of the ocular adnexa	523	ATP6V1A	OMIM:617403
HP:0032039	Abnormality of the ocular adnexa	529	ATP6V1E1	OMIM:617402
HP:0032039	Abnormality of the ocular adnexa	51053	GMNN	OMIM:616835
HP:0032039	Abnormality of the ocular adnexa	11128	POLR3A	OMIM:264090
HP:0032039	Abnormality of the ocular adnexa	11128	POLR3A	ORPHA:3455
HP:0032039	Abnormality of the ocular adnexa	6154	RPL26	OMIM:614900
HP:0032039	Abnormality of the ocular adnexa	157570	ESCO2	OMIM:268300
HP:0032039	Abnormality of the ocular adnexa	1723	DHODH	ORPHA:246
HP:0032039	Abnormality of the ocular adnexa	1723	DHODH	OMIM:263750
HP:0032039	Abnormality of the ocular adnexa	54101	RIPK4	ORPHA:1234
HP:0032039	Abnormality of the ocular adnexa	10535	RNASEH2A	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	84153	RNASEH2C	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	25939	SAMHD1	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	79621	RNASEH2B	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	103	ADAR	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	11277	TREX1	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	100147744	RNU7-1	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	134353	LSM11	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	64135	IFIH1	ORPHA:51
HP:0032039	Abnormality of the ocular adnexa	2313	FLI1	ORPHA:2308
HP:0032039	Abnormality of the ocular adnexa	55636	CHD7	ORPHA:138
HP:0032039	Abnormality of the ocular adnexa	9723	SEMA3E	ORPHA:138
HP:0032039	Abnormality of the ocular adnexa	8092	ALX1	OMIM:613456
HP:0032039	Abnormality of the ocular adnexa	158326	FREM1	ORPHA:2717
HP:0032039	Abnormality of the ocular adnexa	7291	TWIST1	OMIM:617746
HP:0032039	Abnormality of the ocular adnexa	1009	CDH11	OMIM:619736
HP:0032039	Abnormality of the ocular adnexa	10992	SF3B2	OMIM:164210
HP:0032039	Abnormality of the ocular adnexa	80144	FRAS1	OMIM:219000
HP:0032039	Abnormality of the ocular adnexa	6949	TCOF1	OMIM:154500
HP:0032039	Abnormality of the ocular adnexa	60	ACTB	OMIM:243310
HP:0032039	Abnormality of the ocular adnexa	60	ACTB	ORPHA:2995
HP:0032039	Abnormality of the ocular adnexa	699	BUB1	OMIM:620183
HP:0032039	Abnormality of the ocular adnexa	23013	SPEN	OMIM:619312
HP:0032039	Abnormality of the ocular adnexa	8812	CCNK	OMIM:618147
HP:0032039	Abnormality of the ocular adnexa	9759	HDAC4	OMIM:619797
HP:0032039	Abnormality of the ocular adnexa	71	ACTG1	OMIM:614583
HP:0032039	Abnormality of the ocular adnexa	71	ACTG1	ORPHA:2995
HP:0032039	Abnormality of the ocular adnexa	10526	IPO8	OMIM:619472
HP:0032039	Abnormality of the ocular adnexa	9158	FIBP	ORPHA:500095
HP:0032039	Abnormality of the ocular adnexa	9158	FIBP	OMIM:617107
HP:0032039	Abnormality of the ocular adnexa	6711	SPTBN1	OMIM:619475
HP:0032039	Abnormality of the ocular adnexa	51633	OTUD6B	OMIM:617452
HP:0032039	Abnormality of the ocular adnexa	51633	OTUD6B	ORPHA:505237
HP:0032039	Abnormality of the ocular adnexa	1857	DVL3	ORPHA:3107
HP:0032039	Abnormality of the ocular adnexa	7474	WNT5A	ORPHA:3107
HP:0032039	Abnormality of the ocular adnexa	7474	WNT5A	OMIM:180700
HP:0032039	Abnormality of the ocular adnexa	1855	DVL1	ORPHA:3107
HP:0032039	Abnormality of the ocular adnexa	1855	DVL1	OMIM:180700
HP:0032039	Abnormality of the ocular adnexa	2535	FZD2	ORPHA:3107
HP:0032039	Abnormality of the ocular adnexa	29123	ANKRD11	ORPHA:2332
HP:0032039	Abnormality of the ocular adnexa	29123	ANKRD11	OMIM:148050
HP:0032039	Abnormality of the ocular adnexa	100151683	RNU4ATAC	ORPHA:353298
HP:0032039	Abnormality of the ocular adnexa	100151683	RNU4ATAC	OMIM:616651
HP:0032039	Abnormality of the ocular adnexa	84720	PIGO	OMIM:614749
HP:0032039	Abnormality of the ocular adnexa	84720	PIGO	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	8405	SPOP	OMIM:618829
HP:0032039	Abnormality of the ocular adnexa	3190	HNRNPK	ORPHA:453504
HP:0032039	Abnormality of the ocular adnexa	3190	HNRNPK	OMIM:616580
HP:0032039	Abnormality of the ocular adnexa	3190	HNRNPK	ORPHA:352665
HP:0032039	Abnormality of the ocular adnexa	51611	DPH5	OMIM:620070
HP:0032039	Abnormality of the ocular adnexa	57459	GATAD2B	ORPHA:363686
HP:0032039	Abnormality of the ocular adnexa	3636	INPPL1	OMIM:258480
HP:0032039	Abnormality of the ocular adnexa	10978	CLP1	ORPHA:411493
HP:0032039	Abnormality of the ocular adnexa	10978	CLP1	OMIM:615803
HP:0032039	Abnormality of the ocular adnexa	1759	DNM1	OMIM:620352
HP:0032039	Abnormality of the ocular adnexa	55650	PIGV	OMIM:239300
HP:0032039	Abnormality of the ocular adnexa	55650	PIGV	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	4920	ROR2	OMIM:268310
HP:0032039	Abnormality of the ocular adnexa	4920	ROR2	ORPHA:1507
HP:0032039	Abnormality of the ocular adnexa	5296	PIK3R2	OMIM:603387
HP:0032039	Abnormality of the ocular adnexa	84992	PIGY	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	93210	PGAP3	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	284098	PIGW	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	27315	PGAP2	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	27315	PGAP2	OMIM:614207
HP:0032039	Abnormality of the ocular adnexa	9487	PIGL	ORPHA:247262
HP:0032039	Abnormality of the ocular adnexa	4001	LMNB1	OMIM:619179
HP:0032039	Abnormality of the ocular adnexa	818	CAMK2G	OMIM:618522
HP:0032039	Abnormality of the ocular adnexa	5879	RAC1	OMIM:617751
HP:0032039	Abnormality of the ocular adnexa	24140	FTSJ1	OMIM:309549
HP:0032039	Abnormality of the ocular adnexa	92255	LMBRD2	OMIM:619694
HP:0032039	Abnormality of the ocular adnexa	1984	EIF5A	OMIM:619376
HP:0032039	Abnormality of the ocular adnexa	8120	AP3B2	OMIM:617276
HP:0032039	Abnormality of the ocular adnexa	57479	PRR12	OMIM:619539
HP:0032039	Abnormality of the ocular adnexa	79718	TBL1XR1	OMIM:616944
HP:0032039	Abnormality of the ocular adnexa	5604	MAP2K1	ORPHA:1340
HP:0032039	Abnormality of the ocular adnexa	5605	MAP2K2	ORPHA:1340
HP:0032039	Abnormality of the ocular adnexa	673	BRAF	ORPHA:1340
HP:0032039	Abnormality of the ocular adnexa	64359	NXN	ORPHA:1507
HP:0032039	Abnormality of the ocular adnexa	7043	TGFB3	OMIM:615582
HP:0032039	Abnormality of the ocular adnexa	7403	KDM6A	OMIM:300867
HP:0032039	Abnormality of the ocular adnexa	7403	KDM6A	OMIM:147920
HP:0032039	Abnormality of the ocular adnexa	1523	CUX1	OMIM:618330
HP:0032039	Abnormality of the ocular adnexa	5144	PDE4D	ORPHA:439822
HP:0032039	Abnormality of the ocular adnexa	5813	PURA	ORPHA:438216
HP:0032039	Abnormality of the ocular adnexa	5813	PURA	OMIM:616158
HP:0032039	Abnormality of the ocular adnexa	170302	ARX	OMIM:300419
HP:0032039	Abnormality of the ocular adnexa	649	BMP1	OMIM:614856
HP:0032039	Abnormality of the ocular adnexa	2783	GNB2	OMIM:619503
HP:0032039	Abnormality of the ocular adnexa	27445	PCLO	OMIM:608027
HP:0032039	Abnormality of the ocular adnexa	8085	KMT2D	OMIM:147920
HP:0032039	Abnormality of the ocular adnexa	2263	FGFR2	ORPHA:794
HP:0032039	Abnormality of the ocular adnexa	2261	FGFR3	ORPHA:794
HP:0032039	Abnormality of the ocular adnexa	1816	DRD5	OMIM:606798
HP:0032039	Abnormality of the ocular adnexa	2512	FTL	OMIM:606159
HP:0032039	Abnormality of the ocular adnexa	2512	FTL	ORPHA:157846
HP:0032039	Abnormality of the ocular adnexa	63982	ANO3	OMIM:615034
HP:0032039	Abnormality of the ocular adnexa	63982	ANO3	ORPHA:420485
HP:0032039	Abnormality of the ocular adnexa	4137	MAPT	ORPHA:240071
HP:0032039	Abnormality of the ocular adnexa	4137	MAPT	ORPHA:240094
HP:0032039	Abnormality of the ocular adnexa	1356	CP	OMIM:604290
HP:0032039	Abnormality of the ocular adnexa	1356	CP	ORPHA:48818
HP:0032039	Abnormality of the ocular adnexa	10382	TUBB4A	ORPHA:98805
HP:0032039	Abnormality of the ocular adnexa	55145	THAP1	ORPHA:98806
HP:0032039	Abnormality of the ocular adnexa	10815	CPLX1	ORPHA:352582
HP:0032039	Abnormality of the ocular adnexa	57465	TBC1D24	ORPHA:352582
HP:0032039	Abnormality of the ocular adnexa	80025	PANK2	OMIM:234200
HP:0032039	Abnormality of the ocular adnexa	3339	HSPG2	ORPHA:800
HP:0032039	Abnormality of the ocular adnexa	3208	HPCA	ORPHA:99657
HP:0032039	Abnormality of the ocular adnexa	3208	HPCA	OMIM:224500
HP:0032039	Abnormality of the ocular adnexa	1822	ATN1	ORPHA:101
HP:0032039	Abnormality of the ocular adnexa	84172	POLR1B	ORPHA:861
HP:0032039	Abnormality of the ocular adnexa	9533	POLR1C	ORPHA:861
HP:0032039	Abnormality of the ocular adnexa	51082	POLR1D	ORPHA:861
HP:0032039	Abnormality of the ocular adnexa	51102	MECR	OMIM:617282
HP:0032039	Abnormality of the ocular adnexa	56910	STARD7	OMIM:607876
HP:0032039	Abnormality of the ocular adnexa	11315	PARK7	OMIM:606324
HP:0032039	Abnormality of the ocular adnexa	79734	KCTD17	OMIM:616398
HP:0032039	Abnormality of the ocular adnexa	23400	ATP13A2	ORPHA:306674
HP:0032039	Abnormality of the ocular adnexa	23230	VPS13A	ORPHA:2388
HP:0032039	Abnormality of the ocular adnexa	16	AARS1	OMIM:616339
HP:0032039	Abnormality of the ocular adnexa	1644	DDC	OMIM:608643
HP:0032039	Abnormality of the ocular adnexa	773	CACNA1A	ORPHA:98758
HP:0032039	Abnormality of the ocular adnexa	1861	TOR1A	OMIM:128100
HP:0032039	Abnormality of the ocular adnexa	6908	TBP	ORPHA:98759
HP:0032039	Abnormality of the ocular adnexa	81607	NECTIN4	OMIM:613573
HP:0032039	Abnormality of the ocular adnexa	1909	EDNRA	OMIM:616367
HP:0032039	Abnormality of the ocular adnexa	641	BLM	ORPHA:125
HP:0032039	Abnormality of the ocular adnexa	5339	PLEC	OMIM:226730
HP:0032039	Abnormality of the ocular adnexa	3691	ITGB4	OMIM:226730
HP:0032039	Abnormality of the ocular adnexa	3691	ITGB4	ORPHA:79403
HP:0032039	Abnormality of the ocular adnexa	2629	GBA1	ORPHA:85212
HP:0032039	Abnormality of the ocular adnexa	79092	CARD14	OMIM:173200
HP:0032039	Abnormality of the ocular adnexa	51099	ABHD5	OMIM:275630
HP:0032039	Abnormality of the ocular adnexa	51099	ABHD5	ORPHA:98907
HP:0032039	Abnormality of the ocular adnexa	3655	ITGA6	ORPHA:79403
HP:0032039	Abnormality of the ocular adnexa	204219	CERS3	OMIM:615023
HP:0032039	Abnormality of the ocular adnexa	204219	CERS3	ORPHA:79394
HP:0032039	Abnormality of the ocular adnexa	285848	PNPLA1	ORPHA:79394
HP:0032039	Abnormality of the ocular adnexa	1906	EDN1	OMIM:615706
HP:0032039	Abnormality of the ocular adnexa	8398	PLA2G6	ORPHA:199351
HP:0032039	Abnormality of the ocular adnexa	8398	PLA2G6	OMIM:612953
HP:0032039	Abnormality of the ocular adnexa	7552	ZNF711	OMIM:300803
HP:0032039	Abnormality of the ocular adnexa	318	NUDT2	OMIM:619844
HP:0032039	Abnormality of the ocular adnexa	55870	ASH1L	OMIM:617796
HP:0032039	Abnormality of the ocular adnexa	6509	SLC1A4	ORPHA:447997
HP:0032039	Abnormality of the ocular adnexa	81603	TRIM8	OMIM:619428
HP:0032039	Abnormality of the ocular adnexa	6888	TALDO1	OMIM:606003
HP:0032039	Abnormality of the ocular adnexa	6448	SGSH	OMIM:252900
HP:0032039	Abnormality of the ocular adnexa	8473	OGT	OMIM:300997
HP:0032039	Abnormality of the ocular adnexa	6792	CDKL5	ORPHA:505652
HP:0032039	Abnormality of the ocular adnexa	80185	TTI2	OMIM:615541
HP:0032039	Abnormality of the ocular adnexa	80185	TTI2	ORPHA:391307
HP:0032039	Abnormality of the ocular adnexa	5702	PSMC3	OMIM:619354
HP:0032039	Abnormality of the ocular adnexa	138050	HGSNAT	OMIM:252930
HP:0032039	Abnormality of the ocular adnexa	64802	NMNAT1	OMIM:619260
HP:0032039	Abnormality of the ocular adnexa	284361	EMC10	OMIM:619264
HP:0032039	Abnormality of the ocular adnexa	4669	NAGLU	OMIM:252920
HP:0032039	Abnormality of the ocular adnexa	6720	SREBF1	OMIM:158310
HP:0032039	Abnormality of the ocular adnexa	3141	HLCS	ORPHA:79242
HP:0032039	Abnormality of the ocular adnexa	326	AIRE	OMIM:240300
HP:0032039	Abnormality of the ocular adnexa	6335	SCN9A	OMIM:133020
HP:0032039	Abnormality of the ocular adnexa	55699	IARS2	OMIM:616007
HP:0032039	Abnormality of the ocular adnexa	1308	COL17A1	ORPHA:293381
HP:0032039	Abnormality of the ocular adnexa	4547	MTTP	ORPHA:14
HP:0032039	Abnormality of the ocular adnexa	22861	NLRP1	OMIM:617388
HP:0032039	Abnormality of the ocular adnexa	64127	NOD2	OMIM:617321
HP:0032039	Abnormality of the ocular adnexa	3930	LBR	ORPHA:779
HP:0032039	Abnormality of the ocular adnexa	165	AEBP1	ORPHA:536532
HP:0032039	Abnormality of the ocular adnexa	149233	IL23R	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	6775	STAT4	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	3586	IL10	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	4210	MEFV	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	1230	CCR1	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	3592	IL12A	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	101928376	IL12A-AS1	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	7099	TLR4	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	3459	IFNGR1	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	720	C4A	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	337867	UBAC2	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	51752	ERAP1	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	8302	KLRC4	ORPHA:117
HP:0032039	Abnormality of the ocular adnexa	255738	PCSK9	OMIM:603776
HP:0032039	Abnormality of the ocular adnexa	5159	PDGFRB	OMIM:616592
HP:0032039	Abnormality of the ocular adnexa	338	APOB	OMIM:144010
HP:0032039	Abnormality of the ocular adnexa	336	APOA2	OMIM:143890
HP:0032039	Abnormality of the ocular adnexa	2053	EPHX2	OMIM:143890
HP:0032039	Abnormality of the ocular adnexa	10842	PPP1R17	OMIM:143890
HP:0032039	Abnormality of the ocular adnexa	2690	GHR	OMIM:143890
HP:0032039	Abnormality of the ocular adnexa	3949	LDLR	OMIM:143890
HP:0032039	Abnormality of the ocular adnexa	2538	G6PC1	OMIM:232200
HP:0032039	Abnormality of the ocular adnexa	1593	CYP27A1	OMIM:213700
HP:0032039	Abnormality of the ocular adnexa	4023	LPL	OMIM:144250
HP:0032039	Abnormality of the ocular adnexa	7274	TTPA	OMIM:277460
HP:0032039	Abnormality of the ocular adnexa	2542	SLC37A4	OMIM:232220
HP:0032039	Abnormality of the ocular adnexa	2542	SLC37A4	OMIM:232240
HP:0032039	Abnormality of the ocular adnexa	2542	SLC37A4	ORPHA:79259
HP:0032039	Abnormality of the ocular adnexa	64241	ABCG8	OMIM:210250
HP:0032039	Abnormality of the ocular adnexa	335	APOA1	ORPHA:425
HP:0032039	Abnormality of the ocular adnexa	19	ABCA1	ORPHA:425
HP:0032039	Abnormality of the ocular adnexa	54892	NCAPG2	OMIM:618460
HP:0032039	Abnormality of the ocular adnexa	207	AKT1	OMIM:176920
HP:0032039	Abnormality of the ocular adnexa	6299	SALL1	ORPHA:857
HP:0032039	Abnormality of the ocular adnexa	51339	DACT1	ORPHA:857
HP:0032039	Abnormality of the ocular adnexa	347733	TUBB2B	OMIM:610031
HP:0032039	Abnormality of the ocular adnexa	401	PHOX2A	OMIM:602078
HP:0032039	Abnormality of the ocular adnexa	55605	KIF21A	OMIM:135700
HP:0032039	Abnormality of the ocular adnexa	5317	PKP1	OMIM:604536
HP:0032039	Abnormality of the ocular adnexa	4953	ODC1	OMIM:619075
HP:0032039	Abnormality of the ocular adnexa	4953	ODC1	ORPHA:544488
HP:0032039	Abnormality of the ocular adnexa	8313	AXIN2	OMIM:608615
HP:0032039	Abnormality of the ocular adnexa	1832	DSP	ORPHA:158687
HP:0032039	Abnormality of the ocular adnexa	3728	JUP	ORPHA:158687
HP:0032039	Abnormality of the ocular adnexa	128178	EDARADD	OMIM:614941
HP:0032039	Abnormality of the ocular adnexa	64682	ANAPC1	OMIM:618625
HP:0032039	Abnormality of the ocular adnexa	3891	KRT85	OMIM:602032
HP:0032039	Abnormality of the ocular adnexa	55806	HR	ORPHA:701
HP:0032039	Abnormality of the ocular adnexa	55806	HR	OMIM:203655
HP:0032039	Abnormality of the ocular adnexa	10283	CWC27	ORPHA:166035
HP:0032039	Abnormality of the ocular adnexa	84946	LTV1	OMIM:620199
HP:0032039	Abnormality of the ocular adnexa	1896	EDA	OMIM:305100
HP:0032039	Abnormality of the ocular adnexa	5297	PI4KA	ORPHA:436252
HP:0032039	Abnormality of the ocular adnexa	57217	TTC7A	ORPHA:436252
HP:0032039	Abnormality of the ocular adnexa	1001	CDH3	ORPHA:1897
HP:0032039	Abnormality of the ocular adnexa	79083	MLPH	OMIM:609227
HP:0032039	Abnormality of the ocular adnexa	4157	MC1R	ORPHA:79432
HP:0032039	Abnormality of the ocular adnexa	4948	OCA2	ORPHA:79432
HP:0032039	Abnormality of the ocular adnexa	7306	TYRP1	ORPHA:79433
HP:0032039	Abnormality of the ocular adnexa	3815	KIT	ORPHA:2884
HP:0032039	Abnormality of the ocular adnexa	4644	MYO5A	OMIM:214450
HP:0032039	Abnormality of the ocular adnexa	10128	LRPPRC	OMIM:220111
HP:0032039	Abnormality of the ocular adnexa	8294	H4C9	OMIM:619951
HP:0032039	Abnormality of the ocular adnexa	50651	SLC45A1	OMIM:617532
HP:0032039	Abnormality of the ocular adnexa	23334	SZT2	OMIM:615476
HP:0032039	Abnormality of the ocular adnexa	7021	TFAP2B	OMIM:169100
HP:0032039	Abnormality of the ocular adnexa	55209	SETD5	ORPHA:404440
HP:0032039	Abnormality of the ocular adnexa	613	BCR	ORPHA:261330
HP:0032039	Abnormality of the ocular adnexa	1399	CRKL	ORPHA:261330
HP:0032039	Abnormality of the ocular adnexa	23322	RPGRIP1L	ORPHA:220497
HP:0032039	Abnormality of the ocular adnexa	23322	RPGRIP1L	ORPHA:1454
HP:0032039	Abnormality of the ocular adnexa	153241	CEP120	ORPHA:220493
HP:0032039	Abnormality of the ocular adnexa	153241	CEP120	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	95681	CEP41	ORPHA:220493
HP:0032039	Abnormality of the ocular adnexa	95681	CEP41	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	80055	PGAP1	OMIM:615802
HP:0032039	Abnormality of the ocular adnexa	23384	SPECC1L	ORPHA:1519
HP:0032039	Abnormality of the ocular adnexa	23384	SPECC1L	OMIM:145420
HP:0032039	Abnormality of the ocular adnexa	5818	NECTIN1	ORPHA:3253
HP:0032039	Abnormality of the ocular adnexa	1185	CLCN6	OMIM:619173
HP:0032039	Abnormality of the ocular adnexa	9469	CHST3	OMIM:143095
HP:0032039	Abnormality of the ocular adnexa	9469	CHST3	ORPHA:263463
HP:0032039	Abnormality of the ocular adnexa	23184	MESD	OMIM:618644
HP:0032039	Abnormality of the ocular adnexa	23325	WASHC4	OMIM:615817
HP:0032039	Abnormality of the ocular adnexa	4330	MN1	OMIM:618774
HP:0032039	Abnormality of the ocular adnexa	4212	MEIS2	OMIM:600987
HP:0032039	Abnormality of the ocular adnexa	79600	TCTN1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	91147	TMEM67	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	91147	TMEM67	ORPHA:1454
HP:0032039	Abnormality of the ocular adnexa	200894	ARL13B	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	9731	CEP104	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	219844	HYLS1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	23247	KATNIP	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	219854	TMEM218	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	79867	TCTN2	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	10464	PIBF1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	80210	ARMC9	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	23116	TOGARAM1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	25776	CBY1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	27077	B9D1	ORPHA:475
HP:0032039	Abnormality of the ocular adnexa	5792	PTPRF	OMIM:616001
HP:0032039	Abnormality of the ocular adnexa	8363	H4C11	OMIM:619759
HP:0032039	Abnormality of the ocular adnexa	9772	TMEM94	OMIM:618316
HP:0032039	Abnormality of the ocular adnexa	3187	HNRNPH1	OMIM:620083
HP:0032039	Abnormality of the ocular adnexa	4123	MAN2C1	OMIM:619775
HP:0032039	Abnormality of the ocular adnexa	23483	TGDS	ORPHA:1388
HP:0032039	Abnormality of the ocular adnexa	79791	FBXO31	OMIM:615979
HP:0032039	Abnormality of the ocular adnexa	22856	CHSY1	OMIM:605282
HP:0032039	Abnormality of the ocular adnexa	9427	ECEL1	OMIM:615065
HP:0032039	Abnormality of the ocular adnexa	84188	FAR1	OMIM:616154
HP:0032039	Abnormality of the ocular adnexa	84188	FAR1	ORPHA:438178
HP:0032039	Abnormality of the ocular adnexa	92335	STRADA	ORPHA:500533
HP:0032039	Abnormality of the ocular adnexa	79813	EHMT1	ORPHA:96147
HP:0032039	Abnormality of the ocular adnexa	23028	KDM1A	OMIM:616728
HP:0032039	Abnormality of the ocular adnexa	3313	HSPA9	OMIM:616854
HP:0032039	Abnormality of the ocular adnexa	998	CDC42	OMIM:616737
HP:0032039	Abnormality of the ocular adnexa	998	CDC42	ORPHA:487796
HP:0032039	Abnormality of the ocular adnexa	56975	FAM20C	OMIM:259775
HP:0032039	Abnormality of the ocular adnexa	26999	CYFIP2	OMIM:618008
HP:0032039	Abnormality of the ocular adnexa	79583	TMEM231	ORPHA:2318
HP:0032039	Abnormality of the ocular adnexa	51524	TMEM138	ORPHA:2318
HP:0032039	Abnormality of the ocular adnexa	23090	ZNF423	ORPHA:2318
HP:0032039	Abnormality of the ocular adnexa	57545	CC2D2A	ORPHA:2318
HP:0032039	Abnormality of the ocular adnexa	57545	CC2D2A	ORPHA:1454
HP:0032039	Abnormality of the ocular adnexa	348180	CTU2	OMIM:618142
HP:0032039	Abnormality of the ocular adnexa	94005	PIGS	OMIM:618143
HP:0032039	Abnormality of the ocular adnexa	2571	GAD1	OMIM:619124
HP:0032039	Abnormality of the ocular adnexa	6472	SHMT2	OMIM:619121
HP:0032039	Abnormality of the ocular adnexa	91875	TTC5	OMIM:619244
HP:0032039	Abnormality of the ocular adnexa	113246	C12orf57	OMIM:218340
HP:0032039	Abnormality of the ocular adnexa	259266	ASPM	OMIM:608716
HP:0032039	Abnormality of the ocular adnexa	57020	VPS35L	OMIM:619135
HP:0032039	Abnormality of the ocular adnexa	3480	IGF1R	OMIM:270450
HP:0032039	Abnormality of the ocular adnexa	126695	KDF1	OMIM:617337
HP:0032039	Abnormality of the ocular adnexa	80232	WDR26	OMIM:617616
HP:0032039	Abnormality of the ocular adnexa	80232	WDR26	ORPHA:513456
HP:0032039	Abnormality of the ocular adnexa	5361	PLXNA1	OMIM:619955
HP:0032039	Abnormality of the ocular adnexa	10026	PIGK	OMIM:618879
HP:0032039	Abnormality of the ocular adnexa	112802	KRT71	ORPHA:170
HP:0032039	Abnormality of the ocular adnexa	147183	KRT25	ORPHA:170
HP:0032039	Abnormality of the ocular adnexa	6926	TBX3	OMIM:181450
HP:0032039	Abnormality of the ocular adnexa	341208	HEPHL1	OMIM:261990
HP:0032039	Abnormality of the ocular adnexa	2892	GRIA3	ORPHA:364028
HP:0032039	Abnormality of the ocular adnexa	200424	TET3	OMIM:618798
HP:0032039	Abnormality of the ocular adnexa	977	CD151	OMIM:609057
HP:0032039	Abnormality of the ocular adnexa	8626	TP63	ORPHA:69085
HP:0032039	Abnormality of the ocular adnexa	2591	GALNT3	OMIM:211900
HP:0032039	Abnormality of the ocular adnexa	2972	BRF1	ORPHA:444072
HP:0032039	Abnormality of the ocular adnexa	668	FOXL2	ORPHA:572333
HP:0032039	Abnormality of the ocular adnexa	4692	NDN	ORPHA:177904
HP:0032039	Abnormality of the ocular adnexa	4692	NDN	ORPHA:177901
HP:0032039	Abnormality of the ocular adnexa	4692	NDN	ORPHA:98754
HP:0032039	Abnormality of the ocular adnexa	10300	KATNB1	OMIM:616212
HP:0032039	Abnormality of the ocular adnexa	84520	GON7	OMIM:619603
HP:0032039	Abnormality of the ocular adnexa	2255	FGF10	OMIM:620193
HP:0032039	Abnormality of the ocular adnexa	2255	FGF10	ORPHA:2363
HP:0032039	Abnormality of the ocular adnexa	341640	FREM2	ORPHA:2052
HP:0032039	Abnormality of the ocular adnexa	23426	GRIP1	ORPHA:2052
HP:0032039	Abnormality of the ocular adnexa	8295	TRRAP	OMIM:618454
HP:0032039	Abnormality of the ocular adnexa	6651	SON	ORPHA:500150
HP:0032039	Abnormality of the ocular adnexa	387	RHOA	OMIM:618727
HP:0032039	Abnormality of the ocular adnexa	84570	COL25A1	ORPHA:91411
HP:0032039	Abnormality of the ocular adnexa	79776	ZFHX4	ORPHA:91411
HP:0032039	Abnormality of the ocular adnexa	5428	POLG	ORPHA:298
HP:0032039	Abnormality of the ocular adnexa	1890	TYMP	ORPHA:298
HP:0032039	Abnormality of the ocular adnexa	3980	LIG3	ORPHA:298
HP:0032039	Abnormality of the ocular adnexa	50484	RRM2B	ORPHA:298
HP:0032039	Abnormality of the ocular adnexa	9782	MATR3	ORPHA:600
HP:0032039	Abnormality of the ocular adnexa	51621	KLF13	OMIM:612001
HP:0032039	Abnormality of the ocular adnexa	80324	PUS1	OMIM:600462
HP:0032039	Abnormality of the ocular adnexa	80324	PUS1	ORPHA:2598
HP:0032039	Abnormality of the ocular adnexa	51067	YARS2	ORPHA:2598
HP:0032039	Abnormality of the ocular adnexa	3664	IRF6	OMIM:119500
HP:0032039	Abnormality of the ocular adnexa	3664	IRF6	ORPHA:1300
HP:0032039	Abnormality of the ocular adnexa	22858	CILK1	OMIM:612651
HP:0032039	Abnormality of the ocular adnexa	30062	RAX	OMIM:611038
HP:0032039	Abnormality of the ocular adnexa	1147	CHUK	OMIM:619339
HP:0032039	Abnormality of the ocular adnexa	54880	BCOR	ORPHA:568
HP:0032039	Abnormality of the ocular adnexa	50940	PDE11A	ORPHA:1359
HP:0032039	Abnormality of the ocular adnexa	25	ABL1	OMIM:617602
HP:0032039	Abnormality of the ocular adnexa	54840	APTX	ORPHA:1168
HP:0032039	Abnormality of the ocular adnexa	92482	BBIP1	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	80184	CEP290	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	11020	IFT27	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	582	BBS1	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	49855	SCAPER	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	4867	NPHP1	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	51057	WDPCP	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	27241	BBS9	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	84984	CEP19	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	22954	TRIM32	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	54903	MKS1	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	79738	BBS10	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	123016	TTC8	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	26160	IFT172	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	583	BBS2	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	585	BBS4	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	8195	MKKS	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	54585	LZTFL1	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	55212	BBS7	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	166379	BBS12	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	10806	SDCCAG8	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	157657	CFAP418	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	84100	ARL6	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	129880	BBS5	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	80173	IFT74	ORPHA:110
HP:0032039	Abnormality of the ocular adnexa	118924	FRA10AC1	OMIM:620113
HP:0032039	Abnormality of the ocular adnexa	5587	PRKD1	OMIM:617364
HP:0032039	Abnormality of the ocular adnexa	2934	GSN	ORPHA:85448
HP:0032039	Abnormality of the ocular adnexa	30008	EFEMP2	ORPHA:90349
HP:0032039	Abnormality of the ocular adnexa	10516	FBLN5	ORPHA:90349
HP:0032039	Abnormality of the ocular adnexa	5293	PIK3CD	ORPHA:221139
HP:0032039	Abnormality of the ocular adnexa	90417	KNSTRN	ORPHA:221139
HP:0032039	Abnormality of the ocular adnexa	4047	LSS	OMIM:618275
HP:0032039	Abnormality of the ocular adnexa	80326	WNT10A	OMIM:150400
HP:0032039	Abnormality of the ocular adnexa	29968	PSAT1	OMIM:616038
HP:0032039	Abnormality of the ocular adnexa	26227	PHGDH	OMIM:256520
HP:0032039	Abnormality of the ocular adnexa	10588	MTHFS	OMIM:618367
HP:0032039	Abnormality of the ocular adnexa	93986	FOXP2	ORPHA:209908
HP:0032039	Abnormality of the ocular adnexa	253959	RALGAPA1	OMIM:618797
HP:0032039	Abnormality of the ocular adnexa	25871	NEPRO	OMIM:618853
HP:0032039	Abnormality of the ocular adnexa	6602	SMARCD1	ORPHA:1465
HP:0032039	Abnormality of the ocular adnexa	147912	SIX5	ORPHA:107
HP:0032039	Abnormality of the ocular adnexa	3162	HMOX1	OMIM:614034
HP:0032039	Abnormality of the ocular adnexa	7994	KAT6A	OMIM:616268
HP:0032039	Abnormality of the ocular adnexa	22907	DHX30	OMIM:617804
HP:0032039	Abnormality of the ocular adnexa	55315	SLC29A3	ORPHA:168569
HP:0032039	Abnormality of the ocular adnexa	116931	MED12L	OMIM:618872
HP:0032039	Abnormality of the ocular adnexa	54453	RIN2	ORPHA:217335
HP:0032039	Abnormality of the ocular adnexa	22827	PUF60	ORPHA:508498
HP:0032039	Abnormality of the ocular adnexa	91949	COG7	OMIM:608779
HP:0032039	Abnormality of the ocular adnexa	51574	LARP7	OMIM:615071
HP:0032039	Abnormality of the ocular adnexa	51574	LARP7	ORPHA:319671
HP:0032039	Abnormality of the ocular adnexa	8367	H4C5	OMIM:619950
HP:0032039	Abnormality of the ocular adnexa	60529	ALX4	OMIM:613451
HP:0032039	Abnormality of the ocular adnexa	220	ALDH1A3	OMIM:615113
HP:0032039	Abnormality of the ocular adnexa	23394	ADNP	OMIM:615873
HP:0032039	Abnormality of the ocular adnexa	55627	SMPD4	OMIM:618622
HP:0032039	Abnormality of the ocular adnexa	145173	B3GLCT	ORPHA:709
HP:0032039	Abnormality of the ocular adnexa	3703	STT3A	OMIM:619714
HP:0032039	Abnormality of the ocular adnexa	5575	PRKAR1B	OMIM:619680
HP:0032039	Abnormality of the ocular adnexa	7707	ZNF148	OMIM:617260
HP:0032039	Abnormality of the ocular adnexa	6662	SOX9	OMIM:114290
HP:0032039	Abnormality of the ocular adnexa	10982	MAPRE2	OMIM:616734
HP:0032039	Abnormality of the ocular adnexa	29072	SETD2	OMIM:620157
HP:0032039	Abnormality of the ocular adnexa	29072	SETD2	OMIM:620155
HP:0032039	Abnormality of the ocular adnexa	55780	ERMARD	ORPHA:75857
HP:0032039	Abnormality of the ocular adnexa	57231	SNX14	ORPHA:397709
HP:0032039	Abnormality of the ocular adnexa	57231	SNX14	OMIM:616354
HP:0032039	Abnormality of the ocular adnexa	4297	KMT2A	OMIM:605130
HP:0032039	Abnormality of the ocular adnexa	4297	KMT2A	ORPHA:319182
HP:0032039	Abnormality of the ocular adnexa	56992	KIF15	ORPHA:261323
HP:0032039	Abnormality of the ocular adnexa	284058	KANSL1	ORPHA:363958
HP:0032039	Abnormality of the ocular adnexa	284058	KANSL1	ORPHA:363965
HP:0032039	Abnormality of the ocular adnexa	4998	ORC1	OMIM:224690
HP:0032039	Abnormality of the ocular adnexa	3899	AFF3	OMIM:619297
HP:0032039	Abnormality of the ocular adnexa	54496	PRMT7	OMIM:617157
HP:0032039	Abnormality of the ocular adnexa	81788	NUAK2	OMIM:619452
HP:0032039	Abnormality of the ocular adnexa	1108	CHD4	OMIM:617159
HP:0032039	Abnormality of the ocular adnexa	7841	MOGS	OMIM:606056
HP:0032039	Abnormality of the ocular adnexa	7841	MOGS	ORPHA:79330
HP:0032039	Abnormality of the ocular adnexa	672	BRCA1	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	10459	MAD2L2	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	7516	XRCC2	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	29089	UBE2T	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	675	BRCA2	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	55120	FANCL	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2177	FANCD2	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2175	FANCA	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2187	FANCB	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2176	FANCC	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2178	FANCE	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2188	FANCF	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	2189	FANCG	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	5888	RAD51	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	5889	RAD51C	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	55159	RFWD3	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	83990	BRIP1	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	57697	FANCM	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	79728	PALB2	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	84464	SLX4	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	84464	SLX4	OMIM:613951
HP:0032039	Abnormality of the ocular adnexa	2072	ERCC4	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	55215	FANCI	ORPHA:84
HP:0032039	Abnormality of the ocular adnexa	3759	KCNJ2	OMIM:170390
HP:0032039	Abnormality of the ocular adnexa	3759	KCNJ2	ORPHA:37553
HP:0032039	Abnormality of the ocular adnexa	5422	POLA1	OMIM:301030
HP:0032039	Abnormality of the ocular adnexa	6899	TBX1	OMIM:188400
HP:0032039	Abnormality of the ocular adnexa	64919	BCL11B	OMIM:618092
HP:0032039	Abnormality of the ocular adnexa	64919	BCL11B	OMIM:617237
HP:0032039	Abnormality of the ocular adnexa	3977	LIFR	OMIM:601559
HP:0032039	Abnormality of the ocular adnexa	26053	AUTS2	ORPHA:352490
HP:0032039	Abnormality of the ocular adnexa	26053	AUTS2	OMIM:615834
HP:0032039	Abnormality of the ocular adnexa	84314	TMEM107	OMIM:617563
HP:0032039	Abnormality of the ocular adnexa	26040	SETBP1	OMIM:616078
HP:0032039	Abnormality of the ocular adnexa	3188	HNRNPH2	OMIM:300986
HP:0032039	Abnormality of the ocular adnexa	4613	MYCN	OMIM:164280
HP:0032039	Abnormality of the ocular adnexa	4613	MYCN	ORPHA:391641
HP:0032039	Abnormality of the ocular adnexa	57167	SALL4	ORPHA:959
HP:0032039	Abnormality of the ocular adnexa	57167	SALL4	ORPHA:233
HP:0032039	Abnormality of the ocular adnexa	79633	FAT4	OMIM:615546
HP:0032039	Abnormality of the ocular adnexa	54551	MAGEL2	OMIM:615547
HP:0032039	Abnormality of the ocular adnexa	89910	UBE3B	ORPHA:2707
HP:0032039	Abnormality of the ocular adnexa	25942	SIN3A	OMIM:613406
HP:0032039	Abnormality of the ocular adnexa	8642	DCHS1	OMIM:601390
HP:0032039	Abnormality of the ocular adnexa	2697	GJA1	OMIM:164200
HP:0032039	Abnormality of the ocular adnexa	2697	GJA1	OMIM:257850
HP:0032039	Abnormality of the ocular adnexa	29980	DONSON	OMIM:251230
HP:0032039	Abnormality of the ocular adnexa	8241	RBM10	OMIM:311900
HP:0032039	Abnormality of the ocular adnexa	8241	RBM10	ORPHA:2886
HP:0032039	Abnormality of the ocular adnexa	9935	MAFB	ORPHA:233
HP:0032039	Abnormality of the ocular adnexa	1123	CHN1	ORPHA:233
HP:0032039	Abnormality of the ocular adnexa	4593	MUSK	OMIM:208150
HP:0032039	Abnormality of the ocular adnexa	29957	SLC25A24	OMIM:612289
HP:0032039	Abnormality of the ocular adnexa	25885	POLR1A	ORPHA:1200
HP:0032039	Abnormality of the ocular adnexa	10907	TXNL4A	ORPHA:1200
HP:0032039	Abnormality of the ocular adnexa	10907	TXNL4A	OMIM:608572
HP:0032039	Abnormality of the ocular adnexa	4659	PPP1R12A	OMIM:618820
HP:0032039	Abnormality of the ocular adnexa	8239	USP9X	ORPHA:480880
HP:0032039	Abnormality of the ocular adnexa	8239	USP9X	OMIM:300968
HP:0032039	Abnormality of the ocular adnexa	81031	SLC2A10	ORPHA:3342
HP:0032039	Abnormality of the ocular adnexa	81031	SLC2A10	OMIM:208050
HP:0032039	Abnormality of the ocular adnexa	23137	SMC5	OMIM:620185
HP:0032039	Abnormality of the ocular adnexa	10236	HNRNPR	OMIM:620073
HP:0032039	Abnormality of the ocular adnexa	6595	SMARCA2	ORPHA:3051
HP:0032039	Abnormality of the ocular adnexa	203068	TUBB	OMIM:156610
HP:0032039	Abnormality of the ocular adnexa	8567	MADD	OMIM:619004
HP:0032039	Abnormality of the ocular adnexa	8567	MADD	OMIM:619005
HP:0032039	Abnormality of the ocular adnexa	7358	UGDH	OMIM:618792
HP:0032039	Abnormality of the ocular adnexa	9702	CEP57	OMIM:614114
HP:0032039	Abnormality of the ocular adnexa	3845	KRAS	ORPHA:3339
HP:0032039	Abnormality of the ocular adnexa	10472	ZBTB18	OMIM:612337
HP:0032039	Abnormality of the ocular adnexa	64093	SMOC1	OMIM:206920
HP:0032039	Abnormality of the ocular adnexa	388015	RTL1	ORPHA:96334
HP:0032039	Abnormality of the ocular adnexa	8788	DLK1	ORPHA:96334
HP:0032039	Abnormality of the ocular adnexa	55384	MEG3	ORPHA:96334
HP:0032039	Abnormality of the ocular adnexa	51322	WAC	ORPHA:284169
HP:0032039	Abnormality of the ocular adnexa	8218	CLTCL1	ORPHA:453510
HP:0032039	Abnormality of the ocular adnexa	2186	BPTF	OMIM:617755
HP:0032039	Abnormality of the ocular adnexa	4000	LMNA	ORPHA:1662
HP:0032039	Abnormality of the ocular adnexa	10269	ZMPSTE24	ORPHA:1662
HP:0032039	Abnormality of the ocular adnexa	10269	ZMPSTE24	OMIM:275210
HP:0032039	Abnormality of the ocular adnexa	23219	FBXO28	OMIM:619777
HP:0032039	Abnormality of the ocular adnexa	23522	KAT6B	ORPHA:3047
HP:0032039	Abnormality of the ocular adnexa	1387	CREBBP	OMIM:618332
HP:0032039	Abnormality of the ocular adnexa	6913	TBX15	OMIM:260660
HP:0032039	Abnormality of the ocular adnexa	55553	SOX6	OMIM:618971
HP:0032039	Abnormality of the ocular adnexa	2033	EP300	OMIM:618333
HP:0032039	Abnormality of the ocular adnexa	8621	CDK13	OMIM:617360
HP:0032039	Abnormality of the ocular adnexa	23404	EXOSC2	OMIM:617763
HP:0032039	Abnormality of the ocular adnexa	79228	THOC6	OMIM:613680
HP:0032039	Abnormality of the ocular adnexa	2702	GJA5	OMIM:612474
HP:0032039	Abnormality of the ocular adnexa	2703	GJA8	OMIM:612474
HP:0032039	Abnormality of the ocular adnexa	1642	DDB1	OMIM:619426
HP:0032039	Abnormality of the ocular adnexa	6664	SOX11	OMIM:615866
HP:0032039	Abnormality of the ocular adnexa	63895	PIEZO2	ORPHA:2461
HP:0032039	Abnormality of the ocular adnexa	3516	RBPJ	OMIM:614814
HP:0032039	Abnormality of the ocular adnexa	246329	STAC3	OMIM:255995
HP:0032039	Abnormality of the ocular adnexa	3762	KCNJ5	ORPHA:37553
HP:0032039	Abnormality of the ocular adnexa	4089	SMAD4	ORPHA:2588
HP:0032039	Abnormality of the ocular adnexa	10075	HUWE1	OMIM:309590
HP:0032039	Abnormality of the ocular adnexa	999	CDH1	OMIM:119580
HP:0032039	Abnormality of the ocular adnexa	999	CDH1	ORPHA:1997
HP:0032039	Abnormality of the ocular adnexa	1500	CTNND1	OMIM:617681
HP:0032039	Abnormality of the ocular adnexa	1500	CTNND1	ORPHA:1997
HP:0032039	Abnormality of the ocular adnexa	444	ASPH	OMIM:601552
HP:0032039	Abnormality of the ocular adnexa	6925	TCF4	OMIM:610954
HP:0032039	Abnormality of the ocular adnexa	1180	CLCN1	OMIM:160800
HP:0032039	Abnormality of the ocular adnexa	1180	CLCN1	OMIM:255700
HP:0032039	Abnormality of the ocular adnexa	55768	NGLY1	ORPHA:404454
HP:0032039	Abnormality of the ocular adnexa	3321	IGSF3	OMIM:149700
HP:0032039	Abnormality of the ocular adnexa	6452	SH3BP2	OMIM:118400
HP:0032039	Abnormality of the ocular adnexa	2271	FH	OMIM:606812
HP:0032039	Abnormality of the ocular adnexa	28234	SLCO1B3	ORPHA:3111
HP:0032039	Abnormality of the ocular adnexa	10599	SLCO1B1	ORPHA:3111
HP:0032039	Abnormality of the ocular adnexa	5314	PKHD1	ORPHA:53035
HP:0032039	Abnormality of the ocular adnexa	3909	LAMA3	OMIM:245660
HP:0032039	Abnormality of the ocular adnexa	27316	RBMX	OMIM:300238
HP:0032039	Abnormality of the ocular adnexa	55621	TRMT1	OMIM:618302
HP:0032039	Abnormality of the ocular adnexa	388662	SLC6A17	ORPHA:457212
HP:0032039	Abnormality of the ocular adnexa	388662	SLC6A17	OMIM:616269
HP:0032039	Abnormality of the ocular adnexa	5238	PGM3	ORPHA:443811
HP:0032039	Abnormality of the ocular adnexa	55165	CEP55	OMIM:236500
HP:0032039	Abnormality of the ocular adnexa	23030	KDM4B	OMIM:619320
HP:0032039	Abnormality of the ocular adnexa	5831	PYCR1	OMIM:614438
HP:0032039	Abnormality of the ocular adnexa	9993	DGCR2	OMIM:192430
HP:0032039	Abnormality of the ocular adnexa	8220	ESS2	OMIM:192430
HP:0032039	Abnormality of the ocular adnexa	8214	DGCR6	OMIM:192430
HP:0032039	Abnormality of the ocular adnexa	54487	DGCR8	OMIM:192430
HP:0032039	Abnormality of the ocular adnexa	26153	KIF26A	OMIM:620156
HP:0032039	Abnormality of the ocular adnexa	2556	GABRA3	OMIM:301091
HP:0032039	Abnormality of the ocular adnexa	84295	PHF6	OMIM:301900
HP:0032039	Abnormality of the ocular adnexa	23162	MAPK8IP3	OMIM:618443
HP:0032039	Abnormality of the ocular adnexa	8913	CACNA1G	OMIM:618087
HP:0032039	Abnormality of the ocular adnexa	5116	PCNT	ORPHA:2637
HP:0032039	Abnormality of the ocular adnexa	9969	MED13	OMIM:618009
HP:0032039	Abnormality of the ocular adnexa	7703	PCGF2	OMIM:618371
HP:0032039	Abnormality of the ocular adnexa	11133	KPTN	ORPHA:397612
HP:0032039	Abnormality of the ocular adnexa	55714	TENM3	OMIM:615145
HP:0032039	Abnormality of the ocular adnexa	8550	MAPKAPK5	OMIM:619869
HP:0032039	Abnormality of the ocular adnexa	57572	DOCK6	OMIM:614219
HP:0032039	Abnormality of the ocular adnexa	5934	RBL2	OMIM:619690
HP:0032039	Abnormality of the ocular adnexa	6507	SLC1A3	ORPHA:2131
HP:0032039	Abnormality of the ocular adnexa	8318	CDC45	OMIM:617063
HP:0032039	Abnormality of the ocular adnexa	10157	AASS	ORPHA:2203
HP:0032039	Abnormality of the ocular adnexa	147495	APCDD1	OMIM:605389
HP:0032039	Abnormality of the ocular adnexa	147495	APCDD1	ORPHA:55654
HP:0032039	Abnormality of the ocular adnexa	267010	RNU12	OMIM:603116
HP:0032039	Abnormality of the ocular adnexa	1825	DSC3	OMIM:613102
HP:0032039	Abnormality of the ocular adnexa	3872	KRT17	OMIM:167210
HP:0032039	Abnormality of the ocular adnexa	9076	CLDN1	ORPHA:59303
HP:0032039	Abnormality of the ocular adnexa	9076	CLDN1	OMIM:607626
HP:0032039	Abnormality of the ocular adnexa	22845	DOLK	OMIM:610768
HP:0032039	Abnormality of the ocular adnexa	7286	TUFT1	OMIM:607655
HP:0032039	Abnormality of the ocular adnexa	374393	FAM111B	OMIM:615704
HP:0032039	Abnormality of the ocular adnexa	200879	LIPH	OMIM:604379
HP:0032039	Abnormality of the ocular adnexa	200879	LIPH	ORPHA:55654
HP:0032039	Abnormality of the ocular adnexa	3675	ITGA3	OMIM:614748
HP:0032039	Abnormality of the ocular adnexa	10913	EDAR	OMIM:129490
HP:0032039	Abnormality of the ocular adnexa	10913	EDAR	OMIM:224900
HP:0032039	Abnormality of the ocular adnexa	10161	LPAR6	ORPHA:55654
HP:0032039	Abnormality of the ocular adnexa	10161	LPAR6	OMIM:278150
HP:0032039	Abnormality of the ocular adnexa	25959	KANK2	OMIM:616099
HP:0032039	Abnormality of the ocular adnexa	11005	SPINK5	OMIM:256500
HP:0032039	Abnormality of the ocular adnexa	11005	SPINK5	ORPHA:634
HP:0032039	Abnormality of the ocular adnexa	54676	GTPBP2	OMIM:617988
HP:0032039	Abnormality of the ocular adnexa	79971	WLS	OMIM:619648
HP:0032039	Abnormality of the ocular adnexa	7480	WNT10B	OMIM:617073
HP:0032039	Abnormality of the ocular adnexa	8815	BANF1	OMIM:614008
HP:0032039	Abnormality of the ocular adnexa	120766137	HRURF	OMIM:146550
HP:0032039	Abnormality of the ocular adnexa	7227	TRPS1	ORPHA:77258
HP:0032039	Abnormality of the ocular adnexa	7045	TGFBI	OMIM:608470
HP:0032039	Abnormality of the ocular adnexa	5457	POU4F1	ORPHA:314647
HP:0032039	Abnormality of the ocular adnexa	83550	GPR101	ORPHA:963
HP:0032039	Abnormality of the ocular adnexa	9049	AIP	ORPHA:963
HP:0032039	Abnormality of the ocular adnexa	7512	XPNPEP2	ORPHA:100057
HP:0032039	Abnormality of the ocular adnexa	5723	PSPH	ORPHA:79350
HP:0032039	Abnormality of the ocular adnexa	3858	KRT10	ORPHA:312
HP:0032039	Abnormality of the ocular adnexa	3848	KRT1	ORPHA:312
HP:0032039	Abnormality of the ocular adnexa	10483	SEC23B	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	6390	SDHB	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	6392	SDHD	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	6391	SDHC	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	205717	USF3	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	100144748	KLLN	ORPHA:201
HP:0032039	Abnormality of the ocular adnexa	5015	OTX2	ORPHA:990
HP:0032039	Abnormality of the ocular adnexa	64421	DCLRE1C	ORPHA:39041
HP:0032039	Abnormality of the ocular adnexa	100	ADA	ORPHA:39041
HP:0032039	Abnormality of the ocular adnexa	3575	IL7R	ORPHA:39041
HP:0032039	Abnormality of the ocular adnexa	3561	IL2RG	ORPHA:39041
HP:0032039	Abnormality of the ocular adnexa	80067	DCAF17	ORPHA:3464
HP:0032039	Abnormality of the ocular adnexa	197	AHSG	ORPHA:2850
HP:0032039	Abnormality of the ocular adnexa	3694	ITGB6	ORPHA:2850
HP:0032039	Abnormality of the ocular adnexa	60401	EDA2R	ORPHA:181
HP:0032039	Abnormality of the ocular adnexa	151516	ASPRV1	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	242	ALOX12B	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	126410	CYP4F22	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	6820	SULT2B1	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	26154	ABCA12	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	643418	LIPN	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	59344	ALOXE3	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	348938	NIPAL4	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	121214	SDR9C7	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	7051	TGM1	ORPHA:313
HP:0032039	Abnormality of the ocular adnexa	58508	KMT2C	ORPHA:261652
HP:0032039	Abnormality of the ocular adnexa	79574	EPS8L3	ORPHA:444
HP:0032039	Abnormality of the ocular adnexa	6144	RPL21	OMIM:615885
HP:0032039	Abnormality of the ocular adnexa	6635	SNRPE	OMIM:615059
HP:0032039	Abnormality of the ocular adnexa	8882	ZPR1	OMIM:619321
HP:0032039	Abnormality of the ocular adnexa	7390	UROS	ORPHA:79277
HP:0032039	Abnormality of the ocular adnexa	2623	GATA1	ORPHA:79277
HP:0032039	Abnormality of the ocular adnexa	7389	UROD	ORPHA:95159
HP:0032040	Abnormal ocular adnexa physiology	57167	SALL4	ORPHA:233
HP:0032040	Abnormal ocular adnexa physiology	9935	MAFB	ORPHA:233
HP:0032040	Abnormal ocular adnexa physiology	1123	CHN1	ORPHA:233
HP:0032040	Abnormal ocular adnexa physiology	7291	TWIST1	ORPHA:794
HP:0032040	Abnormal ocular adnexa physiology	2263	FGFR2	ORPHA:794
HP:0032040	Abnormal ocular adnexa physiology	2261	FGFR3	ORPHA:794
HP:0032040	Abnormal ocular adnexa physiology	1816	DRD5	OMIM:606798
HP:0032040	Abnormal ocular adnexa physiology	2512	FTL	OMIM:606159
HP:0032040	Abnormal ocular adnexa physiology	2512	FTL	ORPHA:157846
HP:0032040	Abnormal ocular adnexa physiology	63982	ANO3	OMIM:615034
HP:0032040	Abnormal ocular adnexa physiology	63982	ANO3	ORPHA:420485
HP:0032040	Abnormal ocular adnexa physiology	1356	CP	OMIM:604290
HP:0032040	Abnormal ocular adnexa physiology	1356	CP	ORPHA:48818
HP:0032040	Abnormal ocular adnexa physiology	10382	TUBB4A	ORPHA:98805
HP:0032040	Abnormal ocular adnexa physiology	55145	THAP1	ORPHA:98806
HP:0032040	Abnormal ocular adnexa physiology	10815	CPLX1	ORPHA:352582
HP:0032040	Abnormal ocular adnexa physiology	57465	TBC1D24	ORPHA:352582
HP:0032040	Abnormal ocular adnexa physiology	6872	TAF1	ORPHA:53351
HP:0032040	Abnormal ocular adnexa physiology	3339	HSPG2	ORPHA:800
HP:0032040	Abnormal ocular adnexa physiology	3208	HPCA	ORPHA:99657
HP:0032040	Abnormal ocular adnexa physiology	3208	HPCA	OMIM:224500
HP:0032040	Abnormal ocular adnexa physiology	1822	ATN1	ORPHA:101
HP:0032040	Abnormal ocular adnexa physiology	84172	POLR1B	ORPHA:861
HP:0032040	Abnormal ocular adnexa physiology	9533	POLR1C	ORPHA:861
HP:0032040	Abnormal ocular adnexa physiology	51082	POLR1D	ORPHA:861
HP:0032040	Abnormal ocular adnexa physiology	6949	TCOF1	ORPHA:861
HP:0032040	Abnormal ocular adnexa physiology	51102	MECR	OMIM:617282
HP:0032040	Abnormal ocular adnexa physiology	56910	STARD7	OMIM:607876
HP:0032040	Abnormal ocular adnexa physiology	11315	PARK7	OMIM:606324
HP:0032040	Abnormal ocular adnexa physiology	79734	KCTD17	OMIM:616398
HP:0032040	Abnormal ocular adnexa physiology	23230	VPS13A	ORPHA:2388
HP:0032040	Abnormal ocular adnexa physiology	16	AARS1	OMIM:616339
HP:0032040	Abnormal ocular adnexa physiology	1644	DDC	OMIM:608643
HP:0032040	Abnormal ocular adnexa physiology	773	CACNA1A	ORPHA:98758
HP:0032040	Abnormal ocular adnexa physiology	1861	TOR1A	OMIM:128100
HP:0032040	Abnormal ocular adnexa physiology	6908	TBP	ORPHA:98759
HP:0032040	Abnormal ocular adnexa physiology	8398	PLA2G6	ORPHA:199351
HP:0032040	Abnormal ocular adnexa physiology	8398	PLA2G6	OMIM:612953
HP:0032040	Abnormal ocular adnexa physiology	4137	MAPT	OMIM:601104
HP:0032040	Abnormal ocular adnexa physiology	8867	SYNJ1	OMIM:615530
HP:0032040	Abnormal ocular adnexa physiology	23400	ATP13A2	ORPHA:306674
HP:0032040	Abnormal ocular adnexa physiology	80025	PANK2	OMIM:234200
HP:0032040	Abnormal ocular adnexa physiology	1180	CLCN1	OMIM:160800
HP:0032040	Abnormal ocular adnexa physiology	1180	CLCN1	OMIM:255700
HP:0006190	Radially deviated wrists	5307	PITX1	OMIM:186550
HP:0006190	Radially deviated wrists	1297	COL9A1	ORPHA:166002
HP:0006190	Radially deviated wrists	1298	COL9A2	ORPHA:166002
HP:0006190	Radially deviated wrists	1299	COL9A3	ORPHA:166002
HP:0006191	Deep palmar crease	55252	ASXL2	OMIM:617190
HP:0006191	Deep palmar crease	8036	SHOC2	OMIM:607721
HP:0006191	Deep palmar crease	65082	VPS33A	ORPHA:505248
HP:0006191	Deep palmar crease	3190	HNRNPK	OMIM:616580
HP:0006191	Deep palmar crease	4052	LTBP1	OMIM:619451
HP:0006191	Deep palmar crease	8558	CDK10	OMIM:617694
HP:0006191	Deep palmar crease	57479	PRR12	OMIM:619539
HP:0006191	Deep palmar crease	23545	ATP6V0A2	ORPHA:2834
HP:0006191	Deep palmar crease	23545	ATP6V0A2	OMIM:278250
HP:0006191	Deep palmar crease	29957	SLC25A24	OMIM:612289
HP:0006191	Deep palmar crease	673	BRAF	OMIM:115150
HP:0006191	Deep palmar crease	673	BRAF	ORPHA:1340
HP:0006191	Deep palmar crease	673	BRAF	OMIM:613706
HP:0006191	Deep palmar crease	5604	MAP2K1	ORPHA:1340
HP:0006191	Deep palmar crease	5605	MAP2K2	ORPHA:1340
HP:0006191	Deep palmar crease	3845	KRAS	ORPHA:1340
HP:0006191	Deep palmar crease	83550	GPR101	ORPHA:963
HP:0006191	Deep palmar crease	9049	AIP	ORPHA:963
HP:0006191	Deep palmar crease	23384	SPECC1L	OMIM:600251
HP:0006191	Deep palmar crease	55593	OTUD5	OMIM:301056
HP:0006191	Deep palmar crease	283209	PGM2L1	OMIM:620191
HP:0006191	Deep palmar crease	79718	TBL1XR1	OMIM:602342
HP:0006191	Deep palmar crease	79718	TBL1XR1	ORPHA:487825
HP:0006191	Deep palmar crease	171023	ASXL1	OMIM:605039
HP:0006191	Deep palmar crease	10651	MTX2	OMIM:619127
HP:0006191	Deep palmar crease	80816	ASXL3	OMIM:615485
HP:0006191	Deep palmar crease	1806	DPYD	ORPHA:1675
HP:0006191	Deep palmar crease	2475	MTOR	OMIM:616638
HP:0006191	Deep palmar crease	200734	SPRED2	OMIM:619745
HP:0006191	Deep palmar crease	526	ATP6V1B2	ORPHA:3473
HP:0006191	Deep palmar crease	3756	KCNH1	ORPHA:3473
HP:0006191	Deep palmar crease	3782	KCNN3	ORPHA:3473
HP:0006191	Deep palmar crease	3265	HRAS	OMIM:218040
HP:0006191	Deep palmar crease	8241	RBM10	OMIM:311900
HP:0006193	Thimble-shaped middle phalanges of hand	2261	FGFR3	OMIM:602849
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:233
HP:0001199	Triphalangeal thumb	57167	SALL4	OMIM:147750
HP:0001199	Triphalangeal thumb	57167	SALL4	OMIM:607323
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:959
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:2307
HP:0001199	Triphalangeal thumb	9935	MAFB	ORPHA:233
HP:0001199	Triphalangeal thumb	1123	CHN1	ORPHA:233
HP:0001199	Triphalangeal thumb	7291	TWIST1	ORPHA:794
HP:0001199	Triphalangeal thumb	2263	FGFR2	ORPHA:794
HP:0001199	Triphalangeal thumb	2263	FGFR2	OMIM:149730
HP:0001199	Triphalangeal thumb	2261	FGFR3	ORPHA:794
HP:0001199	Triphalangeal thumb	9488	PIGB	OMIM:618580
HP:0001199	Triphalangeal thumb	10262	SF3B4	OMIM:154400
HP:0001199	Triphalangeal thumb	10262	SF3B4	ORPHA:245
HP:0001199	Triphalangeal thumb	6910	TBX5	ORPHA:392
HP:0001199	Triphalangeal thumb	6910	TBX5	OMIM:142900
HP:0001199	Triphalangeal thumb	6138	RPL15	OMIM:615550
HP:0001199	Triphalangeal thumb	6138	RPL15	ORPHA:124
HP:0001199	Triphalangeal thumb	6135	RPL11	OMIM:612562
HP:0001199	Triphalangeal thumb	6135	RPL11	ORPHA:124
HP:0001199	Triphalangeal thumb	6125	RPL5	OMIM:612561
HP:0001199	Triphalangeal thumb	6125	RPL5	ORPHA:124
HP:0001199	Triphalangeal thumb	64327	LMBR1	ORPHA:2378
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:188740
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:186200
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:135750
HP:0001199	Triphalangeal thumb	64327	LMBR1	ORPHA:93405
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	ORPHA:79500
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	OMIM:124480
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	ORPHA:79499
HP:0001199	Triphalangeal thumb	57465	TBC1D24	ORPHA:79500
HP:0001199	Triphalangeal thumb	57465	TBC1D24	OMIM:220500
HP:0001199	Triphalangeal thumb	2737	GLI3	ORPHA:36
HP:0001199	Triphalangeal thumb	2737	GLI3	OMIM:174200
HP:0001199	Triphalangeal thumb	374654	KIF7	ORPHA:36
HP:0001199	Triphalangeal thumb	6299	SALL1	OMIM:107480
HP:0001199	Triphalangeal thumb	6299	SALL1	ORPHA:857
HP:0001199	Triphalangeal thumb	51339	DACT1	ORPHA:857
HP:0001199	Triphalangeal thumb	1749	DLX5	OMIM:183600
HP:0001199	Triphalangeal thumb	4488	MSX2	OMIM:604757
HP:0001199	Triphalangeal thumb	672	BRCA1	ORPHA:84
HP:0001199	Triphalangeal thumb	10459	MAD2L2	ORPHA:84
HP:0001199	Triphalangeal thumb	7516	XRCC2	ORPHA:84
HP:0001199	Triphalangeal thumb	29089	UBE2T	ORPHA:84
HP:0001199	Triphalangeal thumb	675	BRCA2	ORPHA:84
HP:0001199	Triphalangeal thumb	55120	FANCL	ORPHA:84
HP:0001199	Triphalangeal thumb	2177	FANCD2	ORPHA:84
HP:0001199	Triphalangeal thumb	2175	FANCA	ORPHA:84
HP:0001199	Triphalangeal thumb	2187	FANCB	ORPHA:84
HP:0001199	Triphalangeal thumb	2176	FANCC	ORPHA:84
HP:0001199	Triphalangeal thumb	2178	FANCE	ORPHA:84
HP:0001199	Triphalangeal thumb	2188	FANCF	ORPHA:84
HP:0001199	Triphalangeal thumb	2189	FANCG	ORPHA:84
HP:0001199	Triphalangeal thumb	5888	RAD51	ORPHA:84
HP:0001199	Triphalangeal thumb	5889	RAD51C	ORPHA:84
HP:0001199	Triphalangeal thumb	55159	RFWD3	ORPHA:84
HP:0001199	Triphalangeal thumb	83990	BRIP1	ORPHA:84
HP:0001199	Triphalangeal thumb	57697	FANCM	ORPHA:84
HP:0001199	Triphalangeal thumb	79728	PALB2	ORPHA:84
HP:0001199	Triphalangeal thumb	84464	SLX4	ORPHA:84
HP:0001199	Triphalangeal thumb	2072	ERCC4	ORPHA:84
HP:0001199	Triphalangeal thumb	55215	FANCI	ORPHA:84
HP:0001199	Triphalangeal thumb	8626	TP63	OMIM:605289
HP:0001199	Triphalangeal thumb	6223	RPS19	OMIM:105650
HP:0001199	Triphalangeal thumb	6223	RPS19	ORPHA:124
HP:0001199	Triphalangeal thumb	6229	RPS24	ORPHA:124
HP:0001199	Triphalangeal thumb	6204	RPS10	ORPHA:124
HP:0001199	Triphalangeal thumb	6224	RPS20	ORPHA:124
HP:0001199	Triphalangeal thumb	6165	RPL35A	ORPHA:124
HP:0001199	Triphalangeal thumb	2623	GATA1	ORPHA:124
HP:0001199	Triphalangeal thumb	6232	RPS27	ORPHA:124
HP:0001199	Triphalangeal thumb	6231	RPS26	ORPHA:124
HP:0001199	Triphalangeal thumb	11224	RPL35	ORPHA:124
HP:0001199	Triphalangeal thumb	6160	RPL31	ORPHA:124
HP:0001199	Triphalangeal thumb	6218	RPS17	ORPHA:124
HP:0001199	Triphalangeal thumb	6201	RPS7	ORPHA:124
HP:0001199	Triphalangeal thumb	6155	RPL27	ORPHA:124
HP:0001199	Triphalangeal thumb	6154	RPL26	ORPHA:124
HP:0001199	Triphalangeal thumb	6210	RPS15A	ORPHA:124
HP:0001199	Triphalangeal thumb	90121	TSR2	ORPHA:124
HP:0001199	Triphalangeal thumb	6141	RPL18	ORPHA:124
HP:0001199	Triphalangeal thumb	6235	RPS29	ORPHA:124
HP:0001199	Triphalangeal thumb	6234	RPS28	ORPHA:124
HP:0001199	Triphalangeal thumb	51816	ADA2	ORPHA:124
HP:0001199	Triphalangeal thumb	6469	SHH	ORPHA:93405
HP:0001199	Triphalangeal thumb	3782	KCNN3	OMIM:618658
HP:0001199	Triphalangeal thumb	5281	PIGF	OMIM:619356
HP:0100490	Camptodactyly of finger	64093	SMOC1	OMIM:206920
HP:0100490	Camptodactyly of finger	64093	SMOC1	ORPHA:1106
HP:0100490	Camptodactyly of finger	91179	SCARF2	OMIM:600920
HP:0100490	Camptodactyly of finger	55628	ZNF407	OMIM:619557
HP:0100490	Camptodactyly of finger	23219	FBXO28	OMIM:619777
HP:0100490	Camptodactyly of finger	84265	POLR3GL	OMIM:619234
HP:0100490	Camptodactyly of finger	29072	SETD2	ORPHA:821
HP:0100490	Camptodactyly of finger	10297	APC2	ORPHA:821
HP:0100490	Camptodactyly of finger	51305	KCNK9	ORPHA:166108
HP:0100490	Camptodactyly of finger	22880	MORC2	ORPHA:466768
HP:0100490	Camptodactyly of finger	825	CAPN3	ORPHA:267
HP:0100490	Camptodactyly of finger	113179	ADAT3	ORPHA:363528
HP:0100490	Camptodactyly of finger	7043	TGFB3	OMIM:615582
HP:0100490	Camptodactyly of finger	10765	KDM5B	OMIM:618109
HP:0100490	Camptodactyly of finger	9487	PIGL	OMIM:280000
HP:0100490	Camptodactyly of finger	3239	HOXD13	OMIM:186000
HP:0100490	Camptodactyly of finger	3977	LIFR	OMIM:601559
HP:0100490	Camptodactyly of finger	10093	ARPC4	OMIM:620141
HP:0100490	Camptodactyly of finger	11011	TLK2	OMIM:618050
HP:0100490	Camptodactyly of finger	80816	ASXL3	OMIM:615485
HP:0100490	Camptodactyly of finger	1836	SLC26A2	ORPHA:93307
HP:0100490	Camptodactyly of finger	81857	MED25	ORPHA:464738
HP:0100490	Camptodactyly of finger	8243	SMC1A	OMIM:301044
HP:0100490	Camptodactyly of finger	1277	COL1A1	OMIM:130060
HP:0100490	Camptodactyly of finger	6909	TBX2	OMIM:618223
HP:0100490	Camptodactyly of finger	23327	NEDD4L	OMIM:617201
HP:0100490	Camptodactyly of finger	8985	PLOD3	OMIM:612394
HP:0100490	Camptodactyly of finger	3955	LFNG	OMIM:609813
HP:0100490	Camptodactyly of finger	6134	RPL10	OMIM:300998
HP:0100490	Camptodactyly of finger	2218	FKTN	ORPHA:272
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:2053
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:1146
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:2990
HP:0100490	Camptodactyly of finger	259232	NALCN	ORPHA:2053
HP:0100490	Camptodactyly of finger	259232	NALCN	ORPHA:1146
HP:0100490	Camptodactyly of finger	8294	H4C9	OMIM:619951
HP:0100490	Camptodactyly of finger	3094	HINT1	ORPHA:324442
HP:0100490	Camptodactyly of finger	8838	CCN6	OMIM:208230
HP:0100490	Camptodactyly of finger	1947	EFNB1	ORPHA:1520
HP:0100490	Camptodactyly of finger	7355	SLC35A2	ORPHA:356961
HP:0100490	Camptodactyly of finger	118429	ANTXR2	ORPHA:2176
HP:0100490	Camptodactyly of finger	5077	PAX3	ORPHA:1529
HP:0100490	Camptodactyly of finger	5077	PAX3	ORPHA:896
HP:0100490	Camptodactyly of finger	5077	PAX3	OMIM:148820
HP:0100490	Camptodactyly of finger	2316	FLNA	OMIM:300244
HP:0100490	Camptodactyly of finger	2316	FLNA	ORPHA:90652
HP:0100490	Camptodactyly of finger	2316	FLNA	ORPHA:1826
HP:0100490	Camptodactyly of finger	2316	FLNA	OMIM:305620
HP:0100490	Camptodactyly of finger	9241	NOG	ORPHA:3250
HP:0100490	Camptodactyly of finger	8200	GDF5	ORPHA:3250
HP:0100490	Camptodactyly of finger	54968	TMEM70	ORPHA:1194
HP:0100490	Camptodactyly of finger	613	BCR	ORPHA:261330
HP:0100490	Camptodactyly of finger	1399	CRKL	ORPHA:261330
HP:0100490	Camptodactyly of finger	5594	MAPK1	ORPHA:261330
HP:0100490	Camptodactyly of finger	84466	MEGF10	OMIM:614399
HP:0100490	Camptodactyly of finger	72	ACTG2	ORPHA:2604
HP:0100490	Camptodactyly of finger	10216	PRG4	ORPHA:2848
HP:0100490	Camptodactyly of finger	3508	IGHMBP2	OMIM:604320
HP:0100490	Camptodactyly of finger	6926	TBX3	ORPHA:3138
HP:0100490	Camptodactyly of finger	51360	MBTPS2	ORPHA:2273
HP:0100490	Camptodactyly of finger	10381	TUBB3	OMIM:600638
HP:0100490	Camptodactyly of finger	9469	CHST3	OMIM:143095
HP:0100490	Camptodactyly of finger	3423	IDS	ORPHA:217085
HP:0100490	Camptodactyly of finger	3423	IDS	ORPHA:217093
HP:0100490	Camptodactyly of finger	64359	NXN	ORPHA:1507
HP:0100490	Camptodactyly of finger	4920	ROR2	ORPHA:1507
HP:0100490	Camptodactyly of finger	2697	GJA1	ORPHA:2710
HP:0100490	Camptodactyly of finger	2697	GJA1	ORPHA:93404
HP:0100490	Camptodactyly of finger	64127	NOD2	OMIM:186580
HP:0100490	Camptodactyly of finger	64127	NOD2	ORPHA:90340
HP:0100490	Camptodactyly of finger	6999	TDO2	OMIM:600627
HP:0100490	Camptodactyly of finger	1301	COL11A1	ORPHA:2021
HP:0100490	Camptodactyly of finger	1302	COL11A2	ORPHA:2021
HP:0100490	Camptodactyly of finger	10716	TBR1	ORPHA:1617
HP:0100490	Camptodactyly of finger	3425	IDUA	OMIM:607015
HP:0100490	Camptodactyly of finger	3425	IDUA	ORPHA:93473
HP:0100490	Camptodactyly of finger	4593	MUSK	OMIM:208150
HP:0100490	Camptodactyly of finger	4593	MUSK	ORPHA:994
HP:0100490	Camptodactyly of finger	63895	PIEZO2	OMIM:114300
HP:0100490	Camptodactyly of finger	63895	PIEZO2	ORPHA:376
HP:0100490	Camptodactyly of finger	63895	PIEZO2	ORPHA:2461
HP:0100490	Camptodactyly of finger	56006	SMG9	OMIM:616920
HP:0100490	Camptodactyly of finger	1857	DVL3	ORPHA:3107
HP:0100490	Camptodactyly of finger	7474	WNT5A	ORPHA:3107
HP:0100490	Camptodactyly of finger	1855	DVL1	ORPHA:3107
HP:0100490	Camptodactyly of finger	2535	FZD2	ORPHA:3107
HP:0100490	Camptodactyly of finger	9508	ADAMTS3	ORPHA:2136
HP:0100490	Camptodactyly of finger	147372	CCBE1	ORPHA:2136
HP:0100490	Camptodactyly of finger	79633	FAT4	ORPHA:2136
HP:0100490	Camptodactyly of finger	5189	PEX1	ORPHA:3220
HP:0100490	Camptodactyly of finger	5190	PEX6	ORPHA:3220
HP:0100490	Camptodactyly of finger	5590	PRKCZ	ORPHA:1606
HP:0100490	Camptodactyly of finger	2563	GABRD	ORPHA:1606
HP:0100490	Camptodactyly of finger	23013	SPEN	ORPHA:1606
HP:0100490	Camptodactyly of finger	8510	MMP23B	ORPHA:1606
HP:0100490	Camptodactyly of finger	7798	LUZP1	ORPHA:1606
HP:0100490	Camptodactyly of finger	6497	SKI	ORPHA:1606
HP:0100490	Camptodactyly of finger	6497	SKI	ORPHA:2462
HP:0100490	Camptodactyly of finger	10630	PDPN	ORPHA:1606
HP:0100490	Camptodactyly of finger	3339	HSPG2	ORPHA:1606
HP:0100490	Camptodactyly of finger	10277	UBE4B	ORPHA:1606
HP:0100490	Camptodactyly of finger	8514	KCNAB2	ORPHA:1606
HP:0100490	Camptodactyly of finger	473	RERE	ORPHA:1606
HP:0100490	Camptodactyly of finger	63976	PRDM16	ORPHA:1606
HP:0100490	Camptodactyly of finger	54897	CASZ1	ORPHA:1606
HP:0100490	Camptodactyly of finger	9719	ADAMTSL2	OMIM:231050
HP:0100490	Camptodactyly of finger	4952	OCRL	OMIM:309000
HP:0100490	Camptodactyly of finger	8517	IKBKG	ORPHA:464
HP:0100490	Camptodactyly of finger	10436	EMG1	ORPHA:1270
HP:0100490	Camptodactyly of finger	57492	ARID1B	ORPHA:251056
HP:0100490	Camptodactyly of finger	11128	POLR3A	ORPHA:3455
HP:0100490	Camptodactyly of finger	2239	GPC4	ORPHA:373
HP:0100490	Camptodactyly of finger	2719	GPC3	ORPHA:373
HP:0100490	Camptodactyly of finger	55612	FERMT1	ORPHA:2908
HP:0100490	Camptodactyly of finger	23483	TGDS	ORPHA:1388
HP:0100490	Camptodactyly of finger	2260	FGFR1	OMIM:166250
HP:0100490	Camptodactyly of finger	7140	TNNT3	ORPHA:1146
HP:0100490	Camptodactyly of finger	7169	TPM2	ORPHA:1146
HP:0100490	Camptodactyly of finger	7136	TNNI2	ORPHA:1146
HP:0100490	Camptodactyly of finger	7136	TNNI2	OMIM:601680
HP:0100490	Camptodactyly of finger	4604	MYBPC1	ORPHA:1146
HP:0100490	Camptodactyly of finger	6885	MAP3K7	ORPHA:1826
HP:0100490	Camptodactyly of finger	117581	TWIST2	ORPHA:920
HP:0100490	Camptodactyly of finger	64324	NSD1	ORPHA:3447
HP:0100490	Camptodactyly of finger	8726	EED	ORPHA:3447
HP:0100490	Camptodactyly of finger	23512	SUZ12	ORPHA:3447
HP:0100490	Camptodactyly of finger	2146	EZH2	ORPHA:3447
HP:0100490	Camptodactyly of finger	1723	DHODH	ORPHA:246
HP:0100490	Camptodactyly of finger	257	ALX3	ORPHA:391474
HP:0100490	Camptodactyly of finger	54903	MKS1	OMIM:249000
HP:0100490	Camptodactyly of finger	91252	SLC39A13	OMIM:612350
HP:0100490	Camptodactyly of finger	22930	RAB3GAP1	OMIM:619420
HP:0100490	Camptodactyly of finger	7046	TGFBR1	ORPHA:60030
HP:0100490	Camptodactyly of finger	10526	IPO8	ORPHA:60030
HP:0100490	Camptodactyly of finger	7048	TGFBR2	ORPHA:60030
HP:0100490	Camptodactyly of finger	3897	L1CAM	ORPHA:2466
HP:0100490	Camptodactyly of finger	2245	FGD1	ORPHA:915
HP:0100490	Camptodactyly of finger	2200	FBN1	ORPHA:2462
HP:0100490	Camptodactyly of finger	2201	FBN2	ORPHA:115
HP:0100490	Camptodactyly of finger	7227	TRPS1	ORPHA:77258
HP:0100490	Camptodactyly of finger	4088	SMAD3	ORPHA:284984
HP:0100490	Camptodactyly of finger	27238	GPKOW	ORPHA:2570
HP:0100490	Camptodactyly of finger	10466	COG5	ORPHA:263487
HP:0100490	Camptodactyly of finger	55315	SLC29A3	OMIM:602782
HP:0100490	Camptodactyly of finger	23102	TBC1D2B	OMIM:619323
HP:0100490	Camptodactyly of finger	2068	ERCC2	OMIM:610756
HP:0100490	Camptodactyly of finger	2068	ERCC2	ORPHA:1466
HP:0100490	Camptodactyly of finger	51114	ZDHHC9	ORPHA:776
HP:0100490	Camptodactyly of finger	65109	UPF3B	ORPHA:776
HP:0100490	Camptodactyly of finger	9968	MED12	ORPHA:776
HP:0100490	Camptodactyly of finger	2067	ERCC1	OMIM:610758
HP:0100490	Camptodactyly of finger	2067	ERCC1	ORPHA:1466
HP:0100490	Camptodactyly of finger	114548	NLRP3	ORPHA:575
HP:0100490	Camptodactyly of finger	2074	ERCC6	ORPHA:1466
HP:0100490	Camptodactyly of finger	2073	ERCC5	ORPHA:1466
HP:0100490	Camptodactyly of finger	134701	RIPPLY2	ORPHA:2311
HP:0100490	Camptodactyly of finger	10683	DLL3	ORPHA:2311
HP:0100490	Camptodactyly of finger	84667	HES7	ORPHA:2311
HP:0100490	Camptodactyly of finger	145873	MESP2	ORPHA:2311
HP:0100490	Camptodactyly of finger	81620	CDT1	ORPHA:2554
HP:0100490	Camptodactyly of finger	5000	ORC4	ORPHA:2554
HP:0100490	Camptodactyly of finger	23594	ORC6	ORPHA:2554
HP:0100490	Camptodactyly of finger	8318	CDC45	ORPHA:2554
HP:0100490	Camptodactyly of finger	990	CDC6	ORPHA:2554
HP:0100490	Camptodactyly of finger	4998	ORC1	ORPHA:2554
HP:0100490	Camptodactyly of finger	51053	GMNN	ORPHA:2554
HP:0100490	Camptodactyly of finger	8260	NAA10	ORPHA:568
HP:0100490	Camptodactyly of finger	54880	BCOR	ORPHA:568
HP:0100490	Camptodactyly of finger	64327	LMBR1	ORPHA:93405
HP:0100490	Camptodactyly of finger	6469	SHH	ORPHA:93405
HP:0100490	Camptodactyly of finger	4927	NUP88	ORPHA:994
HP:0100490	Camptodactyly of finger	7846	TUBA1A	ORPHA:994
HP:0100490	Camptodactyly of finger	4654	MYOD1	ORPHA:994
HP:0100490	Camptodactyly of finger	5913	RAPSN	ORPHA:994
HP:0100490	Camptodactyly of finger	6572	SLC18A3	ORPHA:994
HP:0100490	Camptodactyly of finger	285489	DOK7	ORPHA:994
HP:0100490	Camptodactyly of finger	3914	LAMB3	OMIM:226650
HP:0100490	Camptodactyly of finger	9150	CTDP1	ORPHA:48431
HP:0100490	Camptodactyly of finger	8092	ALX1	ORPHA:306542
HP:0100490	Camptodactyly of finger	29895	MYL11	OMIM:619110
HP:0100490	Camptodactyly of finger	64840	PORCN	ORPHA:2092
HP:0100490	Camptodactyly of finger	23443	SLC35A3	OMIM:615553
HP:0100490	Camptodactyly of finger	285590	SH3PXD2B	ORPHA:137834
HP:0100490	Camptodactyly of finger	25914	RTTN	ORPHA:468631
HP:0100490	Camptodactyly of finger	9935	MAFB	ORPHA:2774
HP:0100490	Camptodactyly of finger	28952	CCDC22	OMIM:300963
HP:0100490	Camptodactyly of finger	8450	CUL4B	ORPHA:85293
HP:0100490	Camptodactyly of finger	1303	COL12A1	ORPHA:610
HP:0100490	Camptodactyly of finger	1291	COL6A1	ORPHA:610
HP:0100490	Camptodactyly of finger	1291	COL6A1	OMIM:158810
HP:0100490	Camptodactyly of finger	1292	COL6A2	ORPHA:610
HP:0100490	Camptodactyly of finger	1292	COL6A2	OMIM:158810
HP:0100490	Camptodactyly of finger	1293	COL6A3	ORPHA:610
HP:0100490	Camptodactyly of finger	1293	COL6A3	OMIM:158810
HP:0100490	Camptodactyly of finger	26092	TOR1AIP1	OMIM:617072
HP:0100490	Camptodactyly of finger	8242	KDM5C	ORPHA:85279
HP:0100490	Camptodactyly of finger	59341	TRPV4	ORPHA:2635
HP:0100490	Camptodactyly of finger	2261	FGFR3	ORPHA:85164
HP:0100490	Camptodactyly of finger	4000	LMNA	ORPHA:1662
HP:0100490	Camptodactyly of finger	10269	ZMPSTE24	ORPHA:1662
HP:0100490	Camptodactyly of finger	1146	CHRNG	ORPHA:2990
HP:0100490	Camptodactyly of finger	23522	KAT6B	ORPHA:3047
HP:0100490	Camptodactyly of finger	26123	TCTN3	ORPHA:2753
HP:0100490	Camptodactyly of finger	64131	XYLT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	124583	CANT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	55790	CSGALNACT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	23529	CLCF1	ORPHA:1545
HP:0100490	Camptodactyly of finger	9244	CRLF1	ORPHA:1545
HP:0100490	Camptodactyly of finger	51002	TPRKB	ORPHA:2065
HP:0100490	Camptodactyly of finger	84942	WDR73	ORPHA:2065
HP:0100490	Camptodactyly of finger	55644	OSGEP	ORPHA:2065
HP:0100490	Camptodactyly of finger	57122	NUP107	ORPHA:2065
HP:0100490	Camptodactyly of finger	10785	WDR4	ORPHA:2065
HP:0100490	Camptodactyly of finger	55746	NUP133	ORPHA:2065
HP:0100490	Camptodactyly of finger	112858	TP53RK	ORPHA:2065
HP:0100490	Camptodactyly of finger	8270	LAGE3	ORPHA:2065
HP:0100490	Camptodactyly of finger	5696	PSMB8	OMIM:256040
HP:0100490	Camptodactyly of finger	56916	SMARCAD1	ORPHA:1658
HP:0010004	Partial duplication of the distal phalanges of the hand	55012	PPP2R3C	OMIM:618419
HP:0010004	Partial duplication of the distal phalanges of the hand	374654	KIF7	OMIM:200990
HP:0010004	Partial duplication of the distal phalanges of the hand	5053	PAH	ORPHA:2209
HP:0010004	Partial duplication of the distal phalanges of the hand	124583	CANT1	OMIM:251450
HP:0010004	Partial duplication of the distal phalanges of the hand	7291	TWIST1	OMIM:101400
HP:0010004	Partial duplication of the distal phalanges of the hand	2263	FGFR2	OMIM:101400
HP:0009642	Broad distal phalanx of the thumb	2316	FLNA	OMIM:311300
HP:0009642	Broad distal phalanx of the thumb	2778	GNAS	ORPHA:79443
HP:0009642	Broad distal phalanx of the thumb	2778	GNAS	ORPHA:79444
HP:0009642	Broad distal phalanx of the thumb	2263	FGFR2	OMIM:101200
HP:0009642	Broad distal phalanx of the thumb	3239	HOXD13	OMIM:113200
HP:0032043	Odynophagia	5277	PIGA	ORPHA:447
HP:0032044	Decreased vigilance	4221	MEN1	ORPHA:652
HP:0032044	Decreased vigilance	1027	CDKN1B	ORPHA:652
HP:0032044	Decreased vigilance	1026	CDKN1A	ORPHA:652
HP:0032044	Decreased vigilance	1030	CDKN2B	ORPHA:652
HP:0032044	Decreased vigilance	1031	CDKN2C	ORPHA:652
HP:0032044	Decreased vigilance	5354	PLP1	ORPHA:280229
HP:0032044	Decreased vigilance	773	CACNA1A	ORPHA:569
HP:0032044	Decreased vigilance	112476	PRRT2	ORPHA:569
HP:0032044	Decreased vigilance	6323	SCN1A	ORPHA:569
HP:0032044	Decreased vigilance	477	ATP1A2	ORPHA:569
HP:0032046	Focal cortical dysplasia	9997	SCO2	OMIM:604377
HP:0032046	Focal cortical dysplasia	9276	COPB2	OMIM:619884
HP:0032046	Focal cortical dysplasia	26047	CNTNAP2	OMIM:610042
HP:0032046	Focal cortical dysplasia	8131	NPRL3	OMIM:617118
HP:0032046	Focal cortical dysplasia	8131	NPRL3	ORPHA:98820
HP:0032046	Focal cortical dysplasia	10585	POMT1	OMIM:613155
HP:0032046	Focal cortical dysplasia	1778	DYNC1H1	OMIM:614563
HP:0032046	Focal cortical dysplasia	10641	NPRL2	OMIM:617116
HP:0032046	Focal cortical dysplasia	10641	NPRL2	ORPHA:98820
HP:0032046	Focal cortical dysplasia	55746	NUP133	OMIM:618349
HP:0032046	Focal cortical dysplasia	1282	COL4A1	OMIM:175780
HP:0032046	Focal cortical dysplasia	5290	PIK3CA	ORPHA:99802
HP:0032046	Focal cortical dysplasia	2475	MTOR	ORPHA:99802
HP:0032046	Focal cortical dysplasia	10000	AKT3	ORPHA:99802
HP:0032046	Focal cortical dysplasia	9681	DEPDC5	OMIM:604364
HP:0032046	Focal cortical dysplasia	9681	DEPDC5	ORPHA:98820
HP:0032046	Focal cortical dysplasia	7248	TSC1	OMIM:607341
HP:0032046	Focal cortical dysplasia	7249	TSC2	OMIM:607341
HP:0032047	Focal cortical dysplasia type I	9681	DEPDC5	OMIM:604364
HP:0032051	Focal cortical dysplasia type II	9681	DEPDC5	OMIM:604364
HP:0032051	Focal cortical dysplasia type II	7248	TSC1	OMIM:607341
HP:0032051	Focal cortical dysplasia type II	7249	TSC2	OMIM:607341
HP:0032051	Focal cortical dysplasia type II	2475	MTOR	OMIM:607341
HP:0032051	Focal cortical dysplasia type II	8131	NPRL3	OMIM:617118
HP:0032052	Focal cortical dysplasia type IIa	8131	NPRL3	OMIM:617118
HP:0032052	Focal cortical dysplasia type IIa	9681	DEPDC5	OMIM:604364
HP:0032059	Mild malformation of cortical development	23309	SIN3B	ORPHA:500166
HP:0032059	Mild malformation of cortical development	25942	SIN3A	ORPHA:500166
HP:0032061	Hypereosinophilia	2137	EXTL3	ORPHA:508533
HP:0032061	Hypereosinophilia	11005	SPINK5	OMIM:256500
HP:0032061	Hypereosinophilia	64170	CARD9	OMIM:212050
HP:0032061	Hypereosinophilia	10526	IPO8	OMIM:619472
HP:0032061	Hypereosinophilia	28755	TRAC	OMIM:615387
HP:0032061	Hypereosinophilia	22861	NLRP1	OMIM:617388
HP:0032064	Gastrointestinal eosinophilia	84433	CARD11	OMIM:617638
HP:0032064	Gastrointestinal eosinophilia	3716	JAK1	OMIM:618999
HP:0032064	Gastrointestinal eosinophilia	10095	ARPC1B	OMIM:617718
HP:0032064	Gastrointestinal eosinophilia	6772	STAT1	OMIM:614162
HP:0032064	Gastrointestinal eosinophilia	4088	SMAD3	OMIM:613795
HP:0032064	Gastrointestinal eosinophilia	7046	TGFBR1	OMIM:609192
HP:0032064	Gastrointestinal eosinophilia	81704	DOCK8	OMIM:243700
HP:0032064	Gastrointestinal eosinophilia	7048	TGFBR2	OMIM:610168
HP:0032064	Gastrointestinal eosinophilia	1828	DSG1	OMIM:615508
HP:0032064	Gastrointestinal eosinophilia	7042	TGFB2	OMIM:614816
HP:0032064	Gastrointestinal eosinophilia	7040	TGFB1	OMIM:618213
HP:0032064	Gastrointestinal eosinophilia	7043	TGFB3	OMIM:615582
HP:0032065	Abnormal serum bicarbonate concentration	1376	CPT2	OMIM:608836
HP:0032065	Abnormal serum bicarbonate concentration	8671	SLC4A4	OMIM:604278
HP:0032065	Abnormal serum bicarbonate concentration	65125	WNK1	OMIM:614492
HP:0032065	Abnormal serum bicarbonate concentration	1811	SLC26A3	OMIM:214700
HP:0032065	Abnormal serum bicarbonate concentration	3766	KCNJ10	OMIM:612780
HP:0032066	Decreased serum bicarbonate concentration	1376	CPT2	OMIM:608836
HP:0032066	Decreased serum bicarbonate concentration	8671	SLC4A4	OMIM:604278
HP:0032066	Decreased serum bicarbonate concentration	65125	WNK1	OMIM:614492
HP:0032067	Elevated serum bicarbonate concentration	1811	SLC26A3	OMIM:214700
HP:0032067	Elevated serum bicarbonate concentration	3766	KCNJ10	OMIM:612780
HP:0032069	Anti-thyroglobulin antibody positivity	4791	NFKB2	OMIM:615577
HP:0032069	Anti-thyroglobulin antibody positivity	7253	TSHR	OMIM:609152
HP:0032069	Anti-thyroglobulin antibody positivity	10125	RASGRP1	OMIM:618534
HP:0032069	Anti-thyroglobulin antibody positivity	7068	THRB	OMIM:274300
HP:0032069	Anti-thyroglobulin antibody positivity	29775	CARD10	OMIM:619632
HP:0032069	Anti-thyroglobulin antibody positivity	51371	POMP	OMIM:618048
HP:0032070	Leptomeningeal enhancement	7276	TTR	OMIM:105210
HP:0032072	Popliteal synovial cyst	3373	HYAL1	OMIM:601492
HP:0032073	Aplasia of the fallopian tube	54361	WNT4	OMIM:158330
HP:0032075	Splenopancreatic fusion	26040	SETBP1	OMIM:269150
HP:0032076	Abnormal male urethral meatus morphology	29123	ANKRD11	OMIM:148050
HP:0032076	Abnormal male urethral meatus morphology	26005	C2CD3	ORPHA:434179
HP:0032076	Abnormal male urethral meatus morphology	26005	C2CD3	OMIM:615948
HP:0032076	Abnormal male urethral meatus morphology	3670	ISL1	ORPHA:93930
HP:0032076	Abnormal male urethral meatus morphology	26235	FBXL4	OMIM:615471
HP:0032076	Abnormal male urethral meatus morphology	1947	EFNB1	ORPHA:1520
HP:0032076	Abnormal male urethral meatus morphology	1947	EFNB1	OMIM:304110
HP:0032076	Abnormal male urethral meatus morphology	4204	MECP2	ORPHA:1762
HP:0032076	Abnormal male urethral meatus morphology	4204	MECP2	OMIM:300260
HP:0032076	Abnormal male urethral meatus morphology	6938	TCF12	OMIM:619718
HP:0032076	Abnormal male urethral meatus morphology	9820	CUL7	ORPHA:2616
HP:0032076	Abnormal male urethral meatus morphology	9820	CUL7	OMIM:273750
HP:0032076	Abnormal male urethral meatus morphology	23363	OBSL1	ORPHA:2616
HP:0032076	Abnormal male urethral meatus morphology	83987	CCDC8	ORPHA:2616
HP:0032076	Abnormal male urethral meatus morphology	79848	CSPP1	ORPHA:397715
HP:0032076	Abnormal male urethral meatus morphology	9786	KIAA0586	ORPHA:397715
HP:0032076	Abnormal male urethral meatus morphology	197131	UBR1	OMIM:243800
HP:0032076	Abnormal male urethral meatus morphology	197131	UBR1	ORPHA:2315
HP:0032076	Abnormal male urethral meatus morphology	267010	RNU12	OMIM:603116
HP:0032076	Abnormal male urethral meatus morphology	5932	RBBP8	OMIM:606744
HP:0032076	Abnormal male urethral meatus morphology	116931	MED12L	OMIM:618872
HP:0032076	Abnormal male urethral meatus morphology	9578	CDC42BPB	OMIM:619841
HP:0032076	Abnormal male urethral meatus morphology	1586	CYP17A1	ORPHA:90796
HP:0032076	Abnormal male urethral meatus morphology	1586	CYP17A1	ORPHA:90793
HP:0032076	Abnormal male urethral meatus morphology	8239	USP9X	OMIM:300919
HP:0032076	Abnormal male urethral meatus morphology	5189	PEX1	OMIM:214100
HP:0032076	Abnormal male urethral meatus morphology	5189	PEX1	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	284058	KANSL1	ORPHA:363958
HP:0032076	Abnormal male urethral meatus morphology	284058	KANSL1	ORPHA:363965
HP:0032076	Abnormal male urethral meatus morphology	4853	NOTCH2	OMIM:102500
HP:0032076	Abnormal male urethral meatus morphology	4853	NOTCH2	ORPHA:955
HP:0032076	Abnormal male urethral meatus morphology	9968	MED12	ORPHA:93932
HP:0032076	Abnormal male urethral meatus morphology	9968	MED12	OMIM:305450
HP:0032076	Abnormal male urethral meatus morphology	7020	TFAP2A	OMIM:113620
HP:0032076	Abnormal male urethral meatus morphology	5566	PRKACA	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	5567	PRKACB	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	2735	GLI1	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	2121	EVC	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	2121	EVC	OMIM:225500
HP:0032076	Abnormal male urethral meatus morphology	51626	DYNC2LI1	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	132884	EVC2	ORPHA:289
HP:0032076	Abnormal male urethral meatus morphology	132884	EVC2	OMIM:225500
HP:0032076	Abnormal male urethral meatus morphology	1281	COL3A1	ORPHA:286
HP:0032076	Abnormal male urethral meatus morphology	23347	SMCHD1	OMIM:603457
HP:0032076	Abnormal male urethral meatus morphology	10815	CPLX1	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	10815	CPLX1	OMIM:194190
HP:0032076	Abnormal male urethral meatus morphology	54872	PIGG	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	7469	NELFA	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	1487	CTBP1	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	1487	CTBP1	OMIM:194190
HP:0032076	Abnormal male urethral meatus morphology	3954	LETM1	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	3954	LETM1	OMIM:194190
HP:0032076	Abnormal male urethral meatus morphology	7468	NSD2	ORPHA:280
HP:0032076	Abnormal male urethral meatus morphology	7468	NSD2	OMIM:194190
HP:0032076	Abnormal male urethral meatus morphology	54968	TMEM70	OMIM:614052
HP:0032076	Abnormal male urethral meatus morphology	54968	TMEM70	ORPHA:1194
HP:0032076	Abnormal male urethral meatus morphology	833	CARS1	OMIM:618891
HP:0032076	Abnormal male urethral meatus morphology	80776	B9D2	OMIM:614175
HP:0032076	Abnormal male urethral meatus morphology	57178	ZMIZ1	OMIM:618659
HP:0032076	Abnormal male urethral meatus morphology	8642	DCHS1	OMIM:601390
HP:0032076	Abnormal male urethral meatus morphology	8642	DCHS1	ORPHA:314679
HP:0032076	Abnormal male urethral meatus morphology	26040	SETBP1	OMIM:269150
HP:0032076	Abnormal male urethral meatus morphology	26040	SETBP1	ORPHA:798
HP:0032076	Abnormal male urethral meatus morphology	3981	LIG4	ORPHA:235
HP:0032076	Abnormal male urethral meatus morphology	54888	NSUN2	ORPHA:235
HP:0032076	Abnormal male urethral meatus morphology	8260	NAA10	OMIM:309800
HP:0032076	Abnormal male urethral meatus morphology	8260	NAA10	ORPHA:568
HP:0032076	Abnormal male urethral meatus morphology	54880	BCOR	OMIM:309800
HP:0032076	Abnormal male urethral meatus morphology	54880	BCOR	ORPHA:568
HP:0032076	Abnormal male urethral meatus morphology	54880	BCOR	OMIM:300166
HP:0032076	Abnormal male urethral meatus morphology	1349	COX7B	OMIM:309801
HP:0032076	Abnormal male urethral meatus morphology	1349	COX7B	ORPHA:2556
HP:0032076	Abnormal male urethral meatus morphology	3052	HCCS	OMIM:309801
HP:0032076	Abnormal male urethral meatus morphology	3052	HCCS	ORPHA:2556
HP:0032076	Abnormal male urethral meatus morphology	54539	NDUFB11	OMIM:309801
HP:0032076	Abnormal male urethral meatus morphology	54539	NDUFB11	ORPHA:2556
HP:0032076	Abnormal male urethral meatus morphology	54914	FOCAD	OMIM:619991
HP:0032076	Abnormal male urethral meatus morphology	8363	H4C11	OMIM:619759
HP:0032076	Abnormal male urethral meatus morphology	5590	PRKCZ	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	2563	GABRD	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	23013	SPEN	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	8510	MMP23B	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	7798	LUZP1	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	6497	SKI	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	10630	PDPN	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	3339	HSPG2	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	10277	UBE4B	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	8514	KCNAB2	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	473	RERE	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	473	RERE	ORPHA:494344
HP:0032076	Abnormal male urethral meatus morphology	473	RERE	OMIM:616975
HP:0032076	Abnormal male urethral meatus morphology	63976	PRDM16	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	54897	CASZ1	ORPHA:1606
HP:0032076	Abnormal male urethral meatus morphology	6134	RPL10	ORPHA:459070
HP:0032076	Abnormal male urethral meatus morphology	6134	RPL10	OMIM:300998
HP:0032076	Abnormal male urethral meatus morphology	6134	RPL10	ORPHA:435938
HP:0032076	Abnormal male urethral meatus morphology	1859	DYRK1A	ORPHA:464311
HP:0032076	Abnormal male urethral meatus morphology	1859	DYRK1A	ORPHA:268261
HP:0032076	Abnormal male urethral meatus morphology	7750	ZMYM2	OMIM:619522
HP:0032076	Abnormal male urethral meatus morphology	51339	DACT1	OMIM:617466
HP:0032076	Abnormal male urethral meatus morphology	51339	DACT1	ORPHA:857
HP:0032076	Abnormal male urethral meatus morphology	9772	TMEM94	OMIM:618316
HP:0032076	Abnormal male urethral meatus morphology	79633	FAT4	ORPHA:314679
HP:0032076	Abnormal male urethral meatus morphology	79633	FAT4	OMIM:615546
HP:0032076	Abnormal male urethral meatus morphology	2239	GPC4	ORPHA:373
HP:0032076	Abnormal male urethral meatus morphology	2239	GPC4	OMIM:312870
HP:0032076	Abnormal male urethral meatus morphology	2719	GPC3	ORPHA:373
HP:0032076	Abnormal male urethral meatus morphology	2719	GPC3	OMIM:312870
HP:0032076	Abnormal male urethral meatus morphology	2260	FGFR1	OMIM:166250
HP:0032076	Abnormal male urethral meatus morphology	2260	FGFR1	OMIM:615465
HP:0032076	Abnormal male urethral meatus morphology	25836	NIPBL	OMIM:122470
HP:0032076	Abnormal male urethral meatus morphology	25836	NIPBL	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	9725	TMEM63A	OMIM:618688
HP:0032076	Abnormal male urethral meatus morphology	7476	WNT7A	OMIM:276820
HP:0032076	Abnormal male urethral meatus morphology	54361	WNT4	OMIM:611812
HP:0032076	Abnormal male urethral meatus morphology	54361	WNT4	ORPHA:139466
HP:0032076	Abnormal male urethral meatus morphology	79087	ALG12	ORPHA:79324
HP:0032076	Abnormal male urethral meatus morphology	79087	ALG12	OMIM:607143
HP:0032076	Abnormal male urethral meatus morphology	9896	FIG4	OMIM:216340
HP:0032076	Abnormal male urethral meatus morphology	9896	FIG4	ORPHA:3472
HP:0032076	Abnormal male urethral meatus morphology	6135	RPL11	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6138	RPL15	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6229	RPS24	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6125	RPL5	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6204	RPS10	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6224	RPS20	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6165	RPL35A	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6165	RPL35A	OMIM:612528
HP:0032076	Abnormal male urethral meatus morphology	2623	GATA1	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6223	RPS19	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6232	RPS27	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6231	RPS26	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	11224	RPL35	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6160	RPL31	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6218	RPS17	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6201	RPS7	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6155	RPL27	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6154	RPL26	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6210	RPS15A	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	90121	TSR2	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6141	RPL18	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6235	RPS29	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	6234	RPS28	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	51816	ADA2	ORPHA:124
HP:0032076	Abnormal male urethral meatus morphology	57539	WDR35	OMIM:614091
HP:0032076	Abnormal male urethral meatus morphology	1523	CUX1	OMIM:618330
HP:0032076	Abnormal male urethral meatus morphology	5426	POLE	OMIM:618336
HP:0032076	Abnormal male urethral meatus morphology	5426	POLE	ORPHA:85173
HP:0032076	Abnormal male urethral meatus morphology	81603	TRIM8	OMIM:619428
HP:0032076	Abnormal male urethral meatus morphology	2737	GLI3	ORPHA:672
HP:0032076	Abnormal male urethral meatus morphology	2737	GLI3	ORPHA:36
HP:0032076	Abnormal male urethral meatus morphology	2737	GLI3	OMIM:175700
HP:0032076	Abnormal male urethral meatus morphology	2737	GLI3	ORPHA:93322
HP:0032076	Abnormal male urethral meatus morphology	22827	PUF60	ORPHA:508498
HP:0032076	Abnormal male urethral meatus morphology	6477	SIAH1	OMIM:619314
HP:0032076	Abnormal male urethral meatus morphology	8473	OGT	OMIM:300997
HP:0032076	Abnormal male urethral meatus morphology	10765	KDM5B	OMIM:618109
HP:0032076	Abnormal male urethral meatus morphology	5308	PITX2	ORPHA:782
HP:0032076	Abnormal male urethral meatus morphology	5308	PITX2	OMIM:180500
HP:0032076	Abnormal male urethral meatus morphology	2296	FOXC1	ORPHA:782
HP:0032076	Abnormal male urethral meatus morphology	374654	KIF7	ORPHA:36
HP:0032076	Abnormal male urethral meatus morphology	374654	KIF7	OMIM:200990
HP:0032076	Abnormal male urethral meatus morphology	27125	AFF4	ORPHA:444077
HP:0032076	Abnormal male urethral meatus morphology	6299	SALL1	OMIM:107480
HP:0032076	Abnormal male urethral meatus morphology	6299	SALL1	ORPHA:857
HP:0032076	Abnormal male urethral meatus morphology	1387	CREBBP	ORPHA:353281
HP:0032076	Abnormal male urethral meatus morphology	1387	CREBBP	OMIM:180849
HP:0032076	Abnormal male urethral meatus morphology	1387	CREBBP	ORPHA:353277
HP:0032076	Abnormal male urethral meatus morphology	29998	BICRA	OMIM:619325
HP:0032076	Abnormal male urethral meatus morphology	2033	EP300	ORPHA:353284
HP:0032076	Abnormal male urethral meatus morphology	2033	EP300	OMIM:180849
HP:0032076	Abnormal male urethral meatus morphology	26128	KIFBP	ORPHA:66629
HP:0032076	Abnormal male urethral meatus morphology	8626	TP63	OMIM:106260
HP:0032076	Abnormal male urethral meatus morphology	8626	TP63	OMIM:129400
HP:0032076	Abnormal male urethral meatus morphology	8626	TP63	ORPHA:1896
HP:0032076	Abnormal male urethral meatus morphology	3039	HBA1	ORPHA:98791
HP:0032076	Abnormal male urethral meatus morphology	3040	HBA2	ORPHA:98791
HP:0032076	Abnormal male urethral meatus morphology	4703	NEB	OMIM:619334
HP:0032076	Abnormal male urethral meatus morphology	4703	NEB	ORPHA:171430
HP:0032076	Abnormal male urethral meatus morphology	51132	RLIM	OMIM:300978
HP:0032076	Abnormal male urethral meatus morphology	6928	HNF1B	OMIM:137920
HP:0032076	Abnormal male urethral meatus morphology	6928	HNF1B	ORPHA:93111
HP:0032076	Abnormal male urethral meatus morphology	284654	RSPO1	OMIM:610644
HP:0032076	Abnormal male urethral meatus morphology	1312	COMT	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	221037	JMJD1C	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	2812	GP1BB	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	6239	RREB1	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	7290	HIRA	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	9632	SEC24C	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	7353	UFD1	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	421	ARVCF	ORPHA:567
HP:0032076	Abnormal male urethral meatus morphology	10524	KAT5	OMIM:619103
HP:0032076	Abnormal male urethral meatus morphology	23522	KAT6B	OMIM:603736
HP:0032076	Abnormal male urethral meatus morphology	7317	UBA1	OMIM:301830
HP:0032076	Abnormal male urethral meatus morphology	8802	SUCLG1	ORPHA:17
HP:0032076	Abnormal male urethral meatus morphology	4700	NDUFA6	OMIM:618253
HP:0032076	Abnormal male urethral meatus morphology	5144	PDE4D	ORPHA:439822
HP:0032076	Abnormal male urethral meatus morphology	5144	PDE4D	OMIM:614613
HP:0032076	Abnormal male urethral meatus morphology	5144	PDE4D	ORPHA:280651
HP:0032076	Abnormal male urethral meatus morphology	2475	MTOR	ORPHA:457485
HP:0032076	Abnormal male urethral meatus morphology	4990	SIX6	OMIM:206900
HP:0032076	Abnormal male urethral meatus morphology	6657	SOX2	OMIM:206900
HP:0032076	Abnormal male urethral meatus morphology	6657	SOX2	ORPHA:77298
HP:0032076	Abnormal male urethral meatus morphology	23594	ORC6	OMIM:613803
HP:0032076	Abnormal male urethral meatus morphology	23594	ORC6	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	9791	PTDSS1	OMIM:151050
HP:0032076	Abnormal male urethral meatus morphology	9791	PTDSS1	ORPHA:2658
HP:0032076	Abnormal male urethral meatus morphology	6611	SMS	ORPHA:3063
HP:0032076	Abnormal male urethral meatus morphology	54809	SAMD9	OMIM:617053
HP:0032076	Abnormal male urethral meatus morphology	9851	KIAA0753	OMIM:619479
HP:0032076	Abnormal male urethral meatus morphology	145173	B3GLCT	OMIM:261540
HP:0032076	Abnormal male urethral meatus morphology	145173	B3GLCT	ORPHA:709
HP:0032076	Abnormal male urethral meatus morphology	6711	SPTBN1	OMIM:619475
HP:0032076	Abnormal male urethral meatus morphology	5781	PTPN11	ORPHA:500
HP:0032076	Abnormal male urethral meatus morphology	5781	PTPN11	OMIM:151100
HP:0032076	Abnormal male urethral meatus morphology	5781	PTPN11	OMIM:163950
HP:0032076	Abnormal male urethral meatus morphology	673	BRAF	ORPHA:500
HP:0032076	Abnormal male urethral meatus morphology	673	BRAF	OMIM:163950
HP:0032076	Abnormal male urethral meatus morphology	5894	RAF1	ORPHA:500
HP:0032076	Abnormal male urethral meatus morphology	2887	GRB10	ORPHA:96182
HP:0032076	Abnormal male urethral meatus morphology	51360	MBTPS2	OMIM:308205
HP:0032076	Abnormal male urethral meatus morphology	2222	FDFT1	OMIM:618156
HP:0032076	Abnormal male urethral meatus morphology	374879	ZNF699	OMIM:619488
HP:0032076	Abnormal male urethral meatus morphology	8318	CDC45	OMIM:617063
HP:0032076	Abnormal male urethral meatus morphology	8318	CDC45	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	1028	CDKN1C	ORPHA:85173
HP:0032076	Abnormal male urethral meatus morphology	1028	CDKN1C	OMIM:614732
HP:0032076	Abnormal male urethral meatus morphology	1028	CDKN1C	ORPHA:397590
HP:0032076	Abnormal male urethral meatus morphology	22995	CEP152	OMIM:613823
HP:0032076	Abnormal male urethral meatus morphology	10084	PQBP1	OMIM:309500
HP:0032076	Abnormal male urethral meatus morphology	6748	SSR4	OMIM:300934
HP:0032076	Abnormal male urethral meatus morphology	219844	HYLS1	OMIM:236680
HP:0032076	Abnormal male urethral meatus morphology	3239	HOXD13	ORPHA:887
HP:0032076	Abnormal male urethral meatus morphology	9897	WASHC5	ORPHA:7
HP:0032076	Abnormal male urethral meatus morphology	9897	WASHC5	OMIM:220210
HP:0032076	Abnormal male urethral meatus morphology	28952	CCDC22	ORPHA:7
HP:0032076	Abnormal male urethral meatus morphology	55181	SMG8	OMIM:619268
HP:0032076	Abnormal male urethral meatus morphology	3735	KARS1	OMIM:619147
HP:0032076	Abnormal male urethral meatus morphology	4713	NDUFB7	OMIM:620135
HP:0032076	Abnormal male urethral meatus morphology	4702	NDUFA8	OMIM:619272
HP:0032076	Abnormal male urethral meatus morphology	10128	LRPPRC	OMIM:220111
HP:0032076	Abnormal male urethral meatus morphology	2294	FOXF1	OMIM:265380
HP:0032076	Abnormal male urethral meatus morphology	8450	CUL4B	OMIM:300354
HP:0032076	Abnormal male urethral meatus morphology	6770	STAR	OMIM:201710
HP:0032076	Abnormal male urethral meatus morphology	341640	FREM2	ORPHA:2052
HP:0032076	Abnormal male urethral meatus morphology	80144	FRAS1	ORPHA:2052
HP:0032076	Abnormal male urethral meatus morphology	80144	FRAS1	OMIM:219000
HP:0032076	Abnormal male urethral meatus morphology	23426	GRIP1	ORPHA:2052
HP:0032076	Abnormal male urethral meatus morphology	23556	PIGN	ORPHA:2059
HP:0032076	Abnormal male urethral meatus morphology	9839	ZEB2	OMIM:235730
HP:0032076	Abnormal male urethral meatus morphology	9839	ZEB2	ORPHA:261552
HP:0032076	Abnormal male urethral meatus morphology	9839	ZEB2	ORPHA:261537
HP:0032076	Abnormal male urethral meatus morphology	64324	NSD1	ORPHA:821
HP:0032076	Abnormal male urethral meatus morphology	29072	SETD2	ORPHA:821
HP:0032076	Abnormal male urethral meatus morphology	10297	APC2	ORPHA:821
HP:0032076	Abnormal male urethral meatus morphology	5447	POR	ORPHA:95699
HP:0032076	Abnormal male urethral meatus morphology	5447	POR	OMIM:201750
HP:0032076	Abnormal male urethral meatus morphology	4281	MID1	OMIM:300000
HP:0032076	Abnormal male urethral meatus morphology	4281	MID1	ORPHA:2745
HP:0032076	Abnormal male urethral meatus morphology	170302	ARX	OMIM:300004
HP:0032076	Abnormal male urethral meatus morphology	170302	ARX	ORPHA:2508
HP:0032076	Abnormal male urethral meatus morphology	58	ACTA1	ORPHA:171430
HP:0032076	Abnormal male urethral meatus morphology	131377	KLHL40	ORPHA:171430
HP:0032076	Abnormal male urethral meatus morphology	10324	KLHL41	ORPHA:171430
HP:0032076	Abnormal male urethral meatus morphology	56203	LMOD3	ORPHA:171430
HP:0032076	Abnormal male urethral meatus morphology	22858	CILK1	OMIM:612651
HP:0032076	Abnormal male urethral meatus morphology	6662	SOX9	OMIM:114290
HP:0032076	Abnormal male urethral meatus morphology	6662	SOX9	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	6662	SOX9	ORPHA:2138
HP:0032076	Abnormal male urethral meatus morphology	55780	ERMARD	ORPHA:75857
HP:0032076	Abnormal male urethral meatus morphology	9382	COG1	OMIM:611209
HP:0032076	Abnormal male urethral meatus morphology	6595	SMARCA2	OMIM:619293
HP:0032076	Abnormal male urethral meatus morphology	1146	CHRNG	OMIM:265000
HP:0032076	Abnormal male urethral meatus morphology	57492	ARID1B	OMIM:135900
HP:0032076	Abnormal male urethral meatus morphology	57492	ARID1B	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	1136	CHRNA3	OMIM:191800
HP:0032076	Abnormal male urethral meatus morphology	672	BRCA1	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	10459	MAD2L2	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	7516	XRCC2	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	29089	UBE2T	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	675	BRCA2	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	55120	FANCL	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2177	FANCD2	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2175	FANCA	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2187	FANCB	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2176	FANCC	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2178	FANCE	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2188	FANCF	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2189	FANCG	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	5888	RAD51	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	5889	RAD51C	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	55159	RFWD3	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	83990	BRIP1	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	57697	FANCM	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	79728	PALB2	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	84464	SLX4	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	2072	ERCC4	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	55215	FANCI	ORPHA:84
HP:0032076	Abnormal male urethral meatus morphology	7080	NKX2-1	ORPHA:209905
HP:0032076	Abnormal male urethral meatus morphology	222663	SCUBE3	OMIM:619184
HP:0032076	Abnormal male urethral meatus morphology	55697	VAC14	ORPHA:3472
HP:0032076	Abnormal male urethral meatus morphology	79813	EHMT1	OMIM:610253
HP:0032076	Abnormal male urethral meatus morphology	4214	MAP3K1	OMIM:613762
HP:0032076	Abnormal male urethral meatus morphology	4214	MAP3K1	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	6845	VAMP7	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	51741	WWOX	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	58524	DMRT3	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	57647	DHX37	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	23414	ZFPM2	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	190	NR0B1	ORPHA:251510
HP:0032076	Abnormal male urethral meatus morphology	83879	CDCA7	OMIM:616910
HP:0032076	Abnormal male urethral meatus morphology	53834	FGFRL1	OMIM:194190
HP:0032076	Abnormal male urethral meatus morphology	1857	DVL3	ORPHA:3107
HP:0032076	Abnormal male urethral meatus morphology	7474	WNT5A	ORPHA:3107
HP:0032076	Abnormal male urethral meatus morphology	1855	DVL1	ORPHA:3107
HP:0032076	Abnormal male urethral meatus morphology	2535	FZD2	ORPHA:3107
HP:0032076	Abnormal male urethral meatus morphology	2535	FZD2	OMIM:164745
HP:0032076	Abnormal male urethral meatus morphology	5828	PEX2	OMIM:614866
HP:0032076	Abnormal male urethral meatus morphology	5828	PEX2	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	11128	POLR3A	OMIM:264090
HP:0032076	Abnormal male urethral meatus morphology	11128	POLR3A	ORPHA:3455
HP:0032076	Abnormal male urethral meatus morphology	79228	THOC6	ORPHA:363444
HP:0032076	Abnormal male urethral meatus morphology	57459	GATAD2B	ORPHA:363686
HP:0032076	Abnormal male urethral meatus morphology	78989	COLEC11	OMIM:265050
HP:0032076	Abnormal male urethral meatus morphology	5324	PLAG1	ORPHA:397590
HP:0032076	Abnormal male urethral meatus morphology	8091	HMGA2	ORPHA:397590
HP:0032076	Abnormal male urethral meatus morphology	3845	KRAS	ORPHA:3339
HP:0032076	Abnormal male urethral meatus morphology	63895	PIEZO2	OMIM:248700
HP:0032076	Abnormal male urethral meatus morphology	63895	PIEZO2	ORPHA:2461
HP:0032076	Abnormal male urethral meatus morphology	9652	SKIC3	OMIM:222470
HP:0032076	Abnormal male urethral meatus morphology	10661	KLF1	OMIM:613673
HP:0032076	Abnormal male urethral meatus morphology	546	ATRX	OMIM:309580
HP:0032076	Abnormal male urethral meatus morphology	546	ATRX	OMIM:301040
HP:0032076	Abnormal male urethral meatus morphology	701	BUB1B	OMIM:257300
HP:0032076	Abnormal male urethral meatus morphology	157570	ESCO2	OMIM:268300
HP:0032076	Abnormal male urethral meatus morphology	157570	ESCO2	ORPHA:2319
HP:0032076	Abnormal male urethral meatus morphology	5631	PRPS1	OMIM:300661
HP:0032076	Abnormal male urethral meatus morphology	123016	TTC8	OMIM:615985
HP:0032076	Abnormal male urethral meatus morphology	7319	UBE2A	ORPHA:163956
HP:0032076	Abnormal male urethral meatus morphology	55670	PEX26	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5824	PEX19	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	8504	PEX3	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	8799	PEX11B	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	9409	PEX16	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5190	PEX6	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5830	PEX5	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5193	PEX12	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5194	PEX13	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5195	PEX14	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	5192	PEX10	ORPHA:912
HP:0032076	Abnormal male urethral meatus morphology	4089	SMAD4	ORPHA:2588
HP:0032076	Abnormal male urethral meatus morphology	10075	HUWE1	OMIM:309590
HP:0032076	Abnormal male urethral meatus morphology	10159	ATP6AP2	OMIM:301045
HP:0032076	Abnormal male urethral meatus morphology	10586	MAB21L2	OMIM:615877
HP:0032076	Abnormal male urethral meatus morphology	55593	OTUD5	OMIM:301056
HP:0032076	Abnormal male urethral meatus morphology	113179	ADAT3	ORPHA:363528
HP:0032076	Abnormal male urethral meatus morphology	55209	SETD5	OMIM:615761
HP:0032076	Abnormal male urethral meatus morphology	55784	MCTP2	ORPHA:1596
HP:0032076	Abnormal male urethral meatus morphology	8085	KMT2D	ORPHA:2322
HP:0032076	Abnormal male urethral meatus morphology	7403	KDM6A	ORPHA:2322
HP:0032076	Abnormal male urethral meatus morphology	998	CDC42	OMIM:616737
HP:0032076	Abnormal male urethral meatus morphology	998	CDC42	ORPHA:487796
HP:0032076	Abnormal male urethral meatus morphology	10982	MAPRE2	OMIM:616734
HP:0032076	Abnormal male urethral meatus morphology	10982	MAPRE2	ORPHA:2505
HP:0032076	Abnormal male urethral meatus morphology	8831	SYNGAP1	ORPHA:544254
HP:0032076	Abnormal male urethral meatus morphology	6597	SMARCA4	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6598	SMARCB1	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6659	SOX4	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	8289	ARID1A	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	5977	DPF2	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6601	SMARCC2	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6602	SMARCD1	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	196528	ARID2	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6605	SMARCE1	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	6664	SOX11	ORPHA:1465
HP:0032076	Abnormal male urethral meatus morphology	134701	RIPPLY2	ORPHA:2311
HP:0032076	Abnormal male urethral meatus morphology	10683	DLL3	ORPHA:2311
HP:0032076	Abnormal male urethral meatus morphology	3955	LFNG	ORPHA:2311
HP:0032076	Abnormal male urethral meatus morphology	84667	HES7	ORPHA:2311
HP:0032076	Abnormal male urethral meatus morphology	145873	MESP2	ORPHA:2311
HP:0032076	Abnormal male urethral meatus morphology	81620	CDT1	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	5000	ORC4	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	990	CDC6	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	4998	ORC1	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	51053	GMNN	ORPHA:2554
HP:0032076	Abnormal male urethral meatus morphology	23028	KDM1A	ORPHA:477993
HP:0032076	Abnormal male urethral meatus morphology	25	ABL1	OMIM:617602
HP:0032076	Abnormal male urethral meatus morphology	545	ATR	OMIM:210600
HP:0032076	Abnormal male urethral meatus morphology	5116	PCNT	OMIM:210720
HP:0032076	Abnormal male urethral meatus morphology	5723	PSPH	ORPHA:79350
HP:0032076	Abnormal male urethral meatus morphology	23476	BRD4	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	9126	SMC3	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	8243	SMC1A	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	55869	HDAC8	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	5885	RAD21	ORPHA:199
HP:0032076	Abnormal male urethral meatus morphology	1589	CYP21A2	OMIM:201910
HP:0032076	Abnormal male urethral meatus morphology	4659	PPP1R12A	OMIM:618820
HP:0032076	Abnormal male urethral meatus morphology	25914	RTTN	ORPHA:468631
HP:0032076	Abnormal male urethral meatus morphology	4796	TONSL	ORPHA:93357
HP:0032076	Abnormal male urethral meatus morphology	202018	TAPT1	OMIM:616897
HP:0032076	Abnormal male urethral meatus morphology	3110	MNX1	ORPHA:1552
HP:0032076	Abnormal male urethral meatus morphology	4047	LSS	OMIM:618840
HP:0032076	Abnormal male urethral meatus morphology	5879	RAC1	OMIM:617751
HP:0032076	Abnormal male urethral meatus morphology	5879	RAC1	ORPHA:500159
HP:0032076	Abnormal male urethral meatus morphology	51780	KDM3B	OMIM:618846
HP:0032076	Abnormal male urethral meatus morphology	4724	NDUFS4	OMIM:252010
HP:0032076	Abnormal male urethral meatus morphology	4000	LMNA	ORPHA:1662
HP:0032076	Abnormal male urethral meatus morphology	10269	ZMPSTE24	ORPHA:1662
HP:0032076	Abnormal male urethral meatus morphology	10269	ZMPSTE24	OMIM:275210
HP:0032076	Abnormal male urethral meatus morphology	5718	PSMD12	OMIM:617516
HP:0032076	Abnormal male urethral meatus morphology	5573	PRKAR1A	ORPHA:280651
HP:0032076	Abnormal male urethral meatus morphology	1468	SLC25A10	OMIM:618972
HP:0032076	Abnormal male urethral meatus morphology	203068	TUBB	ORPHA:2505
HP:0032076	Abnormal male urethral meatus morphology	5604	MAP2K1	OMIM:163950
HP:0032076	Abnormal male urethral meatus morphology	3284	HSD3B2	OMIM:201810
HP:0032076	Abnormal male urethral meatus morphology	6716	SRD5A2	OMIM:264600
HP:0032076	Abnormal male urethral meatus morphology	6716	SRD5A2	ORPHA:753
HP:0032076	Abnormal male urethral meatus morphology	367	AR	OMIM:300633
HP:0032076	Abnormal male urethral meatus morphology	367	AR	ORPHA:90797
HP:0032076	Abnormal male urethral meatus morphology	367	AR	OMIM:312300
HP:0032076	Abnormal male urethral meatus morphology	2626	GATA4	OMIM:615542
HP:0032076	Abnormal male urethral meatus morphology	131118	DNAJC19	ORPHA:66634
HP:0032076	Abnormal male urethral meatus morphology	3209	HOXA13	OMIM:176305
HP:0032076	Abnormal male urethral meatus morphology	8195	MKKS	ORPHA:2473
HP:0032076	Abnormal male urethral meatus morphology	10847	SRCAP	OMIM:136140
HP:0032076	Abnormal male urethral meatus morphology	389827	MYMK	ORPHA:1358
HP:0032076	Abnormal male urethral meatus morphology	101929726	MYMX	ORPHA:1358
HP:0032076	Abnormal male urethral meatus morphology	745	MYRF	OMIM:618280
HP:0032076	Abnormal male urethral meatus morphology	1717	DHCR7	OMIM:270400
HP:0032076	Abnormal male urethral meatus morphology	2516	NR5A1	OMIM:617480
HP:0032076	Abnormal male urethral meatus morphology	2516	NR5A1	OMIM:612965
HP:0032076	Abnormal male urethral meatus morphology	372	ARCN1	OMIM:617164
HP:0032076	Abnormal male urethral meatus morphology	10584	COLEC10	OMIM:248340
HP:0032076	Abnormal male urethral meatus morphology	3481	IGF2	OMIM:616489
HP:0032076	Abnormal male urethral meatus morphology	1009	CDH11	ORPHA:1299
HP:0032076	Abnormal male urethral meatus morphology	1009	CDH11	OMIM:211380
HP:0032076	Abnormal male urethral meatus morphology	6736	SRY	ORPHA:1772
HP:0032076	Abnormal male urethral meatus morphology	3187	HNRNPH1	OMIM:620083
HP:0032076	Abnormal male urethral meatus morphology	57724	EPG5	OMIM:242840
HP:0032076	Abnormal male urethral meatus morphology	10046	MAMLD1	ORPHA:456328
HP:0032076	Abnormal male urethral meatus morphology	4534	MTM1	ORPHA:456328
HP:0032076	Abnormal male urethral meatus morphology	10606	PAICS	OMIM:619859
HP:0032076	Abnormal male urethral meatus morphology	2263	FGFR2	OMIM:149730
HP:0032076	Abnormal male urethral meatus morphology	50945	TBX22	ORPHA:921
HP:0032076	Abnormal male urethral meatus morphology	1528	CYB5A	OMIM:250790
HP:0032076	Abnormal male urethral meatus morphology	1583	CYP11A1	ORPHA:289548
HP:0032076	Abnormal male urethral meatus morphology	1583	CYP11A1	ORPHA:168558
HP:0032076	Abnormal male urethral meatus morphology	81857	MED25	ORPHA:464738
HP:0032076	Abnormal male urethral meatus morphology	25942	SIN3A	OMIM:613406
HP:0032076	Abnormal male urethral meatus morphology	161742	SPRED1	ORPHA:137605
HP:0032076	Abnormal male urethral meatus morphology	5792	PTPRF	OMIM:616001
HP:0032076	Abnormal male urethral meatus morphology	80169	CTC1	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	26277	TINF2	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	55651	NHP2	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	79650	USB1	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	55135	WRAP53	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	51750	RTEL1	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	4869	NPM1	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	7012	TERC	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	55505	NOP10	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	5073	PARN	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	7015	TERT	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	1736	DKC1	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	7298	TYMS	ORPHA:1775
HP:0032076	Abnormal male urethral meatus morphology	5080	PAX6	ORPHA:893
HP:0032076	Abnormal male urethral meatus morphology	627	BDNF	ORPHA:893
HP:0032076	Abnormal male urethral meatus morphology	7490	WT1	ORPHA:893
HP:0032076	Abnormal male urethral meatus morphology	79827	CLMP	ORPHA:2301
HP:0032076	Abnormal male urethral meatus morphology	2316	FLNA	ORPHA:2301
HP:0032076	Abnormal male urethral meatus morphology	10908	PNPLA6	ORPHA:2377
HP:0032076	Abnormal male urethral meatus morphology	6899	TBX1	ORPHA:1727
HP:0032076	Abnormal male urethral meatus morphology	2767	GNA11	ORPHA:1556
HP:0032076	Abnormal male urethral meatus morphology	151188	ARL6IP6	ORPHA:1556
HP:0032077	Male urethral meatus stenosis	81857	MED25	ORPHA:464738
HP:0032077	Male urethral meatus stenosis	25942	SIN3A	OMIM:613406
HP:0032077	Male urethral meatus stenosis	161742	SPRED1	ORPHA:137605
HP:0032077	Male urethral meatus stenosis	5792	PTPRF	OMIM:616001
HP:0032078	Angel-shaped phalanx	8200	GDF5	OMIM:113100
HP:0032078	Angel-shaped phalanx	51098	IFT52	OMIM:617102
HP:0032079	Medial degeneration	4629	MYH11	ORPHA:229
HP:0032079	Medial degeneration	4629	MYH11	ORPHA:91387
HP:0032079	Medial degeneration	7046	TGFBR1	ORPHA:91387
HP:0032079	Medial degeneration	7048	TGFBR2	ORPHA:91387
HP:0032079	Medial degeneration	4015	LOX	ORPHA:91387
HP:0032079	Medial degeneration	4087	SMAD2	ORPHA:91387
HP:0032079	Medial degeneration	7043	TGFB3	ORPHA:91387
HP:0032079	Medial degeneration	4088	SMAD3	ORPHA:91387
HP:0032079	Medial degeneration	7042	TGFB2	ORPHA:91387
HP:0032079	Medial degeneration	4089	SMAD4	ORPHA:91387
HP:0032079	Medial degeneration	2200	FBN1	ORPHA:91387
HP:0032079	Medial degeneration	59	ACTA2	ORPHA:91387
HP:0032079	Medial degeneration	5592	PRKG1	ORPHA:91387
HP:0032079	Medial degeneration	2301	FOXE3	ORPHA:91387
HP:0032079	Medial degeneration	4144	MAT2A	ORPHA:91387
HP:0032079	Medial degeneration	23493	HEY2	ORPHA:91387
HP:0032079	Medial degeneration	8076	MFAP5	ORPHA:91387
HP:0032079	Medial degeneration	4638	MYLK	ORPHA:91387
HP:0032079	Medial degeneration	2006	ELN	ORPHA:91387
HP:0032092	Left ventricular outflow tract obstruction	2548	GAA	ORPHA:308552
HP:0032092	Left ventricular outflow tract obstruction	80206	FHOD3	OMIM:619402
HP:0032092	Left ventricular outflow tract obstruction	4624	MYH6	OMIM:613251
HP:0032092	Left ventricular outflow tract obstruction	23118	TAB2	OMIM:614980
HP:0032092	Left ventricular outflow tract obstruction	7414	VCL	OMIM:613255
HP:0032092	Left ventricular outflow tract obstruction	7026	NR2F2	OMIM:615779
HP:0032092	Left ventricular outflow tract obstruction	54800	KLHL24	OMIM:620236
HP:0032092	Left ventricular outflow tract obstruction	2657	GDF1	OMIM:613854
HP:0032094	Increased circulating surfactant protein level	10568	SLC34A2	ORPHA:60025
HP:0032096	Abnormal manganese concentration	55532	SLC30A10	OMIM:613280
HP:0032096	Abnormal manganese concentration	23516	SLC39A14	ORPHA:521406
HP:0032096	Abnormal manganese concentration	23516	SLC39A14	OMIM:617013
HP:0032096	Abnormal manganese concentration	64116	SLC39A8	ORPHA:468699
HP:0032097	Hypermanganesemia	55532	SLC30A10	OMIM:613280
HP:0032097	Hypermanganesemia	23516	SLC39A14	ORPHA:521406
HP:0032097	Hypermanganesemia	23516	SLC39A14	OMIM:617013
HP:0032098	Hypomanganesemia	64116	SLC39A8	ORPHA:468699
HP:0003700	Generalized amyotrophy	274	BIN1	ORPHA:169186
HP:0003700	Generalized amyotrophy	274	BIN1	OMIM:255200
HP:0003700	Generalized amyotrophy	10290	SPEG	ORPHA:169186
HP:0003700	Generalized amyotrophy	6261	RYR1	ORPHA:169186
HP:0003700	Generalized amyotrophy	7273	TTN	ORPHA:169186
HP:0003700	Generalized amyotrophy	7273	TTN	ORPHA:324604
HP:0003700	Generalized amyotrophy	4927	NUP88	ORPHA:994
HP:0003700	Generalized amyotrophy	7846	TUBA1A	ORPHA:994
HP:0003700	Generalized amyotrophy	4654	MYOD1	ORPHA:994
HP:0003700	Generalized amyotrophy	4593	MUSK	ORPHA:994
HP:0003700	Generalized amyotrophy	4593	MUSK	OMIM:208150
HP:0003700	Generalized amyotrophy	5913	RAPSN	ORPHA:994
HP:0003700	Generalized amyotrophy	6572	SLC18A3	ORPHA:994
HP:0003700	Generalized amyotrophy	285489	DOK7	ORPHA:994
HP:0003700	Generalized amyotrophy	57190	SELENON	ORPHA:324604
HP:0003700	Generalized amyotrophy	57190	SELENON	OMIM:602771
HP:0003700	Generalized amyotrophy	55131	RBM28	ORPHA:157954
HP:0003700	Generalized amyotrophy	1291	COL6A1	OMIM:254090
HP:0003700	Generalized amyotrophy	1291	COL6A1	ORPHA:75840
HP:0003700	Generalized amyotrophy	1291	COL6A1	ORPHA:610
HP:0003700	Generalized amyotrophy	1292	COL6A2	OMIM:254090
HP:0003700	Generalized amyotrophy	1292	COL6A2	ORPHA:75840
HP:0003700	Generalized amyotrophy	1292	COL6A2	ORPHA:610
HP:0003700	Generalized amyotrophy	1293	COL6A3	OMIM:254090
HP:0003700	Generalized amyotrophy	1293	COL6A3	ORPHA:75840
HP:0003700	Generalized amyotrophy	1293	COL6A3	ORPHA:610
HP:0003700	Generalized amyotrophy	1763	DNA2	OMIM:615156
HP:0003700	Generalized amyotrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003700	Generalized amyotrophy	5393	EXOSC9	OMIM:618065
HP:0003700	Generalized amyotrophy	79912	PYROXD1	OMIM:617258
HP:0003700	Generalized amyotrophy	4967	OGDH	OMIM:203740
HP:0003700	Generalized amyotrophy	7415	VCP	OMIM:167320
HP:0003700	Generalized amyotrophy	7415	VCP	ORPHA:275872
HP:0003700	Generalized amyotrophy	7415	VCP	ORPHA:52430
HP:0003700	Generalized amyotrophy	5428	POLG	OMIM:258450
HP:0003700	Generalized amyotrophy	5428	POLG	OMIM:607459
HP:0003700	Generalized amyotrophy	11128	POLR3A	OMIM:264090
HP:0003700	Generalized amyotrophy	2521	FUS	ORPHA:275872
HP:0003700	Generalized amyotrophy	8878	SQSTM1	ORPHA:275872
HP:0003700	Generalized amyotrophy	23435	TARDBP	ORPHA:275872
HP:0003700	Generalized amyotrophy	29110	TBK1	ORPHA:275872
HP:0003700	Generalized amyotrophy	400916	CHCHD10	ORPHA:275872
HP:0003700	Generalized amyotrophy	79581	SLC52A2	OMIM:614707
HP:0003700	Generalized amyotrophy	1303	COL12A1	ORPHA:75840
HP:0003700	Generalized amyotrophy	1303	COL12A1	ORPHA:610
HP:0003700	Generalized amyotrophy	92667	MGME1	ORPHA:352447
HP:0003700	Generalized amyotrophy	92667	MGME1	OMIM:615084
HP:0003700	Generalized amyotrophy	7555	CNBP	OMIM:602668
HP:0003700	Generalized amyotrophy	80055	PGAP1	ORPHA:401820
HP:0003700	Generalized amyotrophy	6567	SLC16A2	OMIM:300523
HP:0003700	Generalized amyotrophy	81790	RNF170	OMIM:619686
HP:0003700	Generalized amyotrophy	10585	POMT1	ORPHA:86812
HP:0003700	Generalized amyotrophy	55152	DALRD3	OMIM:618910
HP:0003700	Generalized amyotrophy	54820	NDE1	OMIM:605013
HP:0003700	Generalized amyotrophy	3178	HNRNPA1	ORPHA:52430
HP:0003700	Generalized amyotrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0003700	Generalized amyotrophy	6843	VAMP1	OMIM:618323
HP:0003700	Generalized amyotrophy	6843	VAMP1	ORPHA:251282
HP:0003700	Generalized amyotrophy	2859	GPR35	ORPHA:171
HP:0003700	Generalized amyotrophy	10507	SEMA4D	ORPHA:171
HP:0003700	Generalized amyotrophy	4485	MST1	ORPHA:171
HP:0003700	Generalized amyotrophy	6925	TCF4	ORPHA:171
HP:0003700	Generalized amyotrophy	3920	LAMP2	OMIM:300257
HP:0003700	Generalized amyotrophy	84823	LMNB2	OMIM:616540
HP:0003700	Generalized amyotrophy	146862	UNC45B	OMIM:619178
HP:0003700	Generalized amyotrophy	4668	NAGA	OMIM:609241
HP:0003700	Generalized amyotrophy	4668	NAGA	ORPHA:79279
HP:0003700	Generalized amyotrophy	7084	TK2	OMIM:609560
HP:0003700	Generalized amyotrophy	10352	WARS2	OMIM:617710
HP:0003700	Generalized amyotrophy	10352	WARS2	ORPHA:572798
HP:0003700	Generalized amyotrophy	131118	DNAJC19	ORPHA:66634
HP:0003700	Generalized amyotrophy	9325	TRIP4	OMIM:616866
HP:0003700	Generalized amyotrophy	36	ACADSB	OMIM:610006
HP:0003700	Generalized amyotrophy	57731	SPTBN4	OMIM:617519
HP:0003700	Generalized amyotrophy	5832	ALDH18A1	OMIM:601162
HP:0003700	Generalized amyotrophy	56652	TWNK	OMIM:607459
HP:0003700	Generalized amyotrophy	205327	C2orf69	OMIM:619423
HP:0003700	Generalized amyotrophy	4000	LMNA	OMIM:616516
HP:0003700	Generalized amyotrophy	4000	LMNA	OMIM:613205
HP:0003700	Generalized amyotrophy	9531	BAG3	OMIM:612954
HP:0003700	Generalized amyotrophy	5277	PIGA	OMIM:301072
HP:0003700	Generalized amyotrophy	80324	PUS1	OMIM:600462
HP:0003700	Generalized amyotrophy	80324	PUS1	ORPHA:2598
HP:0003700	Generalized amyotrophy	10908	PNPLA6	ORPHA:139480
HP:0003700	Generalized amyotrophy	833	CARS1	OMIM:618891
HP:0003700	Generalized amyotrophy	29925	GMPPB	OMIM:615351
HP:0003700	Generalized amyotrophy	80208	SPG11	ORPHA:2822
HP:0003700	Generalized amyotrophy	57104	PNPLA2	ORPHA:98908
HP:0003700	Generalized amyotrophy	55157	DARS2	ORPHA:137898
HP:0003700	Generalized amyotrophy	84665	MYPN	ORPHA:171439
HP:0003700	Generalized amyotrophy	58	ACTA1	ORPHA:171439
HP:0003700	Generalized amyotrophy	7169	TPM2	ORPHA:171439
HP:0003700	Generalized amyotrophy	390594	KBTBD13	ORPHA:171439
HP:0003700	Generalized amyotrophy	4703	NEB	ORPHA:171439
HP:0003700	Generalized amyotrophy	10324	KLHL41	ORPHA:171439
HP:0003700	Generalized amyotrophy	7170	TPM3	ORPHA:171439
HP:0003700	Generalized amyotrophy	9997	SCO2	ORPHA:521411
HP:0003700	Generalized amyotrophy	6444	SGCD	ORPHA:219
HP:0003700	Generalized amyotrophy	4625	MYH7	OMIM:608358
HP:0003700	Generalized amyotrophy	57410	SCYL1	ORPHA:466794
HP:0003700	Generalized amyotrophy	23592	LEMD3	ORPHA:1306
HP:0003700	Generalized amyotrophy	51067	YARS2	ORPHA:2598
HP:0008981	Calf muscle hypertrophy	6445	SGCG	ORPHA:353
HP:0008981	Calf muscle hypertrophy	10585	POMT1	OMIM:609308
HP:0008981	Calf muscle hypertrophy	10585	POMT1	ORPHA:86812
HP:0008981	Calf muscle hypertrophy	10585	POMT1	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	10585	POMT1	OMIM:613155
HP:0008981	Calf muscle hypertrophy	7273	TTN	OMIM:603689
HP:0008981	Calf muscle hypertrophy	7273	TTN	ORPHA:178464
HP:0008981	Calf muscle hypertrophy	7273	TTN	OMIM:611705
HP:0008981	Calf muscle hypertrophy	10367	MICU1	OMIM:615673
HP:0008981	Calf muscle hypertrophy	859	CAV3	OMIM:606072
HP:0008981	Calf muscle hypertrophy	859	CAV3	OMIM:614321
HP:0008981	Calf muscle hypertrophy	6606	SMN1	OMIM:271150
HP:0008981	Calf muscle hypertrophy	1756	DMD	OMIM:310200
HP:0008981	Calf muscle hypertrophy	1756	DMD	ORPHA:206546
HP:0008981	Calf muscle hypertrophy	1756	DMD	ORPHA:98896
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:253800
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:611615
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:611588
HP:0008981	Calf muscle hypertrophy	274	BIN1	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	64419	MTMR14	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	4618	MYF6	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	1785	DNM2	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	6261	RYR1	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	6442	SGCA	OMIM:608099
HP:0008981	Calf muscle hypertrophy	5339	PLEC	ORPHA:254361
HP:0008981	Calf muscle hypertrophy	8291	DYSF	ORPHA:268
HP:0008981	Calf muscle hypertrophy	8291	DYSF	ORPHA:45448
HP:0008981	Calf muscle hypertrophy	825	CAPN3	ORPHA:267
HP:0008981	Calf muscle hypertrophy	5346	PLIN1	ORPHA:280356
HP:0008981	Calf muscle hypertrophy	729920	CRPPA	OMIM:616052
HP:0008981	Calf muscle hypertrophy	6576	SLC25A1	OMIM:618197
HP:0008981	Calf muscle hypertrophy	63924	CIDEC	ORPHA:435651
HP:0008981	Calf muscle hypertrophy	400916	CHCHD10	OMIM:615048
HP:0008981	Calf muscle hypertrophy	3736	KCNA1	ORPHA:37612
HP:0008981	Calf muscle hypertrophy	9215	LARGE1	OMIM:608840
HP:0008981	Calf muscle hypertrophy	9215	LARGE1	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	79147	FKRP	OMIM:607155
HP:0008981	Calf muscle hypertrophy	79147	FKRP	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	79147	FKRP	OMIM:606612
HP:0008981	Calf muscle hypertrophy	79147	FKRP	ORPHA:34515
HP:0008981	Calf muscle hypertrophy	29925	GMPPB	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	29954	POMT2	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	29954	POMT2	ORPHA:206559
HP:0008981	Calf muscle hypertrophy	6444	SGCD	OMIM:601287
HP:0008981	Calf muscle hypertrophy	2483	FRG1	OMIM:158900
HP:0008981	Calf muscle hypertrophy	146862	UNC45B	OMIM:619178
HP:0008981	Calf muscle hypertrophy	64208	POPDC3	OMIM:618848
HP:0008981	Calf muscle hypertrophy	55624	POMGNT1	OMIM:613157
HP:0008981	Calf muscle hypertrophy	4625	MYH7	OMIM:255160
HP:0008981	Calf muscle hypertrophy	80208	SPG11	OMIM:616668
HP:0008981	Calf muscle hypertrophy	55679	LIMS2	OMIM:616827
HP:0008981	Calf muscle hypertrophy	203859	ANO5	OMIM:613319
HP:0008981	Calf muscle hypertrophy	203859	ANO5	OMIM:611307
HP:0008981	Calf muscle hypertrophy	203859	ANO5	ORPHA:206549
HP:0008981	Calf muscle hypertrophy	1605	DAG1	ORPHA:280333
HP:0008981	Calf muscle hypertrophy	84892	POMGNT2	OMIM:618135
HP:0008981	Calf muscle hypertrophy	8557	TCAP	OMIM:601954
HP:0008981	Calf muscle hypertrophy	54344	DPM3	ORPHA:263494
HP:0008981	Calf muscle hypertrophy	51776	MAP3K20	OMIM:617760
HP:0008981	Calf muscle hypertrophy	3908	LAMA2	OMIM:618138
HP:0008981	Calf muscle hypertrophy	8449	DHX16	OMIM:618733
HP:0008981	Calf muscle hypertrophy	367	AR	OMIM:313200
HP:0008981	Calf muscle hypertrophy	6443	SGCB	ORPHA:119
HP:0008981	Calf muscle hypertrophy	4000	LMNA	ORPHA:79474
HP:0008981	Calf muscle hypertrophy	8425	LTBP4	ORPHA:98896
HP:0008981	Calf muscle hypertrophy	5376	PMP22	ORPHA:101081
HP:0003704	Scapuloperoneal weakness	2273	FHL1	OMIM:300696
HP:0003704	Scapuloperoneal weakness	4625	MYH7	OMIM:255160
HP:0003704	Scapuloperoneal weakness	4625	MYH7	OMIM:608358
HP:0003704	Scapuloperoneal weakness	1674	DES	OMIM:181400
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	4549	MT-RNR1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4571	MT-TP	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4571	MT-TP	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:1349
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4564	MT-TH	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4564	MT-TH	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	OMIM:609283
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	OMIM:615418
HP:0004303	Abnormal muscle fiber morphology	11232	POLG2	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	4513	MT-CO2	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4513	MT-CO2	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4538	MT-ND4	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4538	MT-ND4	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	8106	PABPN1	ORPHA:270
HP:0004303	Abnormal muscle fiber morphology	8106	PABPN1	OMIM:164300
HP:0004303	Abnormal muscle fiber morphology	27089	UQCRQ	OMIM:615159
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	OMIM:616209
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	ORPHA:457050
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	ORPHA:276435
HP:0004303	Abnormal muscle fiber morphology	1890	TYMP	OMIM:603041
HP:0004303	Abnormal muscle fiber morphology	1890	TYMP	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	92667	MGME1	ORPHA:352447
HP:0004303	Abnormal muscle fiber morphology	92667	MGME1	OMIM:615084
HP:0004303	Abnormal muscle fiber morphology	6687	SPG7	ORPHA:99013
HP:0004303	Abnormal muscle fiber morphology	4568	MT-TL2	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4570	MT-TN	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4536	MT-ND2	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4537	MT-ND3	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4577	MT-TV	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4577	MT-TV	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4508	MT-ATP6	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	79587	CARS2	ORPHA:477774
HP:0004303	Abnormal muscle fiber morphology	617	BCS1L	OMIM:124000
HP:0004303	Abnormal muscle fiber morphology	1798	DPAGT1	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	3980	LIG3	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	4519	MT-CYB	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4511	MT-TC	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	1716	DGUOK	OMIM:617070
HP:0004303	Abnormal muscle fiber morphology	27235	COQ2	OMIM:607426
HP:0004303	Abnormal muscle fiber morphology	80224	NUBPL	OMIM:618242
HP:0004303	Abnormal muscle fiber morphology	4724	NDUFS4	OMIM:252010
HP:0004303	Abnormal muscle fiber morphology	10939	AFG3L2	OMIM:610246
HP:0004303	Abnormal muscle fiber morphology	124454	EARS2	OMIM:614924
HP:0004303	Abnormal muscle fiber morphology	6389	SDHA	OMIM:252011
HP:0004303	Abnormal muscle fiber morphology	80324	PUS1	OMIM:600462
HP:0004303	Abnormal muscle fiber morphology	4556	MT-TE	ORPHA:254864
HP:0004303	Abnormal muscle fiber morphology	55687	TRMU	ORPHA:254864
HP:0004303	Abnormal muscle fiber morphology	4565	MT-TI	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4509	MT-ATP8	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	8802	SUCLG1	ORPHA:17
HP:0004303	Abnormal muscle fiber morphology	115286	SLC25A26	OMIM:616794
HP:0004303	Abnormal muscle fiber morphology	51067	YARS2	OMIM:613561
HP:0004303	Abnormal muscle fiber morphology	125170	MIEF2	OMIM:619024
HP:0004303	Abnormal muscle fiber morphology	246243	RNASEH1	OMIM:616479
HP:0004303	Abnormal muscle fiber morphology	9131	AIFM1	OMIM:300816
HP:0004303	Abnormal muscle fiber morphology	79731	NARS2	OMIM:616239
HP:0004303	Abnormal muscle fiber morphology	284439	SLC25A42	OMIM:618416
HP:0004303	Abnormal muscle fiber morphology	81034	SLC25A32	OMIM:616839
HP:0004303	Abnormal muscle fiber morphology	87178	PNPT1	ORPHA:319514
HP:0004303	Abnormal muscle fiber morphology	1134	CHRNA1	OMIM:601462
HP:0004303	Abnormal muscle fiber morphology	1134	CHRNA1	OMIM:608930
HP:0004303	Abnormal muscle fiber morphology	7555	CNBP	OMIM:602668
HP:0004303	Abnormal muscle fiber morphology	2673	GFPT1	OMIM:608931
HP:0004303	Abnormal muscle fiber morphology	1145	CHRNE	OMIM:608931
HP:0004303	Abnormal muscle fiber morphology	1145	CHRNE	OMIM:605809
HP:0004303	Abnormal muscle fiber morphology	199857	ALG14	OMIM:619036
HP:0004303	Abnormal muscle fiber morphology	1103	CHAT	OMIM:254210
HP:0004303	Abnormal muscle fiber morphology	8292	COLQ	ORPHA:98915
HP:0004303	Abnormal muscle fiber morphology	8292	COLQ	OMIM:603034
HP:0004303	Abnormal muscle fiber morphology	3913	LAMB2	ORPHA:98915
HP:0004303	Abnormal muscle fiber morphology	844	CASQ1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	84876	ORAI1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	6786	STIM1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	6786	STIM1	OMIM:160565
HP:0004303	Abnormal muscle fiber morphology	23175	LPIN1	ORPHA:99845
HP:0004303	Abnormal muscle fiber morphology	4512	MT-CO1	ORPHA:99845
HP:0004303	Abnormal muscle fiber morphology	4514	MT-CO3	ORPHA:99845
HP:0004303	Abnormal muscle fiber morphology	54938	SARS2	OMIM:613845
HP:0004303	Abnormal muscle fiber morphology	57731	SPTBN4	OMIM:617519
HP:0004303	Abnormal muscle fiber morphology	10049	DNAJB6	OMIM:603511
HP:0004303	Abnormal muscle fiber morphology	58	ACTA1	ORPHA:97240
HP:0004303	Abnormal muscle fiber morphology	7148	TNXB	OMIM:606408
HP:0004303	Abnormal muscle fiber morphology	7273	TTN	OMIM:603689
HP:0004303	Abnormal muscle fiber morphology	7273	TTN	ORPHA:178464
HP:0004303	Abnormal muscle fiber morphology	1410	CRYAB	OMIM:608810
HP:0004303	Abnormal muscle fiber morphology	122622	ADSS1	OMIM:617030
HP:0004303	Abnormal muscle fiber morphology	4625	MYH7	ORPHA:437572
HP:0004303	Abnormal muscle fiber morphology	5339	PLEC	OMIM:226670
HP:0004303	Abnormal muscle fiber morphology	51776	MAP3K20	OMIM:617760
HP:0004303	Abnormal muscle fiber morphology	1140	CHRNB1	OMIM:616313
HP:0004303	Abnormal muscle fiber morphology	226	ALDOA	OMIM:611881
HP:0004303	Abnormal muscle fiber morphology	4744	NEFH	OMIM:616924
HP:0004303	Abnormal muscle fiber morphology	825	CAPN3	OMIM:618129
HP:0004303	Abnormal muscle fiber morphology	8291	DYSF	OMIM:253601
HP:0004303	Abnormal muscle fiber morphology	6445	SGCG	OMIM:253700
HP:0004303	Abnormal muscle fiber morphology	2318	FLNC	OMIM:609524
HP:0004303	Abnormal muscle fiber morphology	4703	NEB	OMIM:256030
HP:0004303	Abnormal muscle fiber morphology	59341	TRPV4	OMIM:181405
HP:0004303	Abnormal muscle fiber morphology	203859	ANO5	ORPHA:206549
HP:0004303	Abnormal muscle fiber morphology	11155	LDB3	OMIM:609452
HP:0004303	Abnormal muscle fiber morphology	353116	RILPL1	OMIM:619790
HP:0004303	Abnormal muscle fiber morphology	57128	LYRM4	OMIM:615595
HP:0004303	Abnormal muscle fiber morphology	2617	GARS1	OMIM:619042
HP:0004303	Abnormal muscle fiber morphology	91754	NEK9	OMIM:617022
HP:0004303	Abnormal muscle fiber morphology	3714	JAG2	OMIM:619566
HP:0004303	Abnormal muscle fiber morphology	4976	OPA1	OMIM:125250
HP:0004303	Abnormal muscle fiber morphology	7125	TNNC2	OMIM:620161
HP:0004303	Abnormal muscle fiber morphology	55154	MSTO1	OMIM:617675
HP:0004303	Abnormal muscle fiber morphology	55154	MSTO1	ORPHA:502423
HP:0004303	Abnormal muscle fiber morphology	191	AHCY	OMIM:613752
HP:0004303	Abnormal muscle fiber morphology	51008	ASCC1	OMIM:616867
HP:0004303	Abnormal muscle fiber morphology	29967	LRP12	OMIM:164310
HP:0004303	Abnormal muscle fiber morphology	8604	SLC25A12	OMIM:612949
HP:0004303	Abnormal muscle fiber morphology	8557	TCAP	OMIM:601954
HP:0004303	Abnormal muscle fiber morphology	4697	NDUFA4	OMIM:619065
HP:0004303	Abnormal muscle fiber morphology	9997	SCO2	OMIM:604377
HP:0004303	Abnormal muscle fiber morphology	4285	MIPEP	OMIM:617228
HP:0004303	Abnormal muscle fiber morphology	51244	CCDC174	OMIM:616816
HP:0004303	Abnormal muscle fiber morphology	7415	VCP	ORPHA:52430
HP:0004303	Abnormal muscle fiber morphology	7415	VCP	OMIM:613954
HP:0004303	Abnormal muscle fiber morphology	3798	KIF5A	OMIM:617235
HP:0004303	Abnormal muscle fiber morphology	5213	PFKM	OMIM:232800
HP:0004303	Abnormal muscle fiber morphology	1487	CTBP1	OMIM:617915
HP:0004303	Abnormal muscle fiber morphology	23479	ISCU	OMIM:255125
HP:0004303	Abnormal muscle fiber morphology	1756	DMD	OMIM:302045
HP:0004303	Abnormal muscle fiber morphology	57505	AARS2	OMIM:614096
HP:0004303	Abnormal muscle fiber morphology	84842	HPDL	OMIM:619026
HP:0004303	Abnormal muscle fiber morphology	6443	SGCB	ORPHA:119
HP:0004303	Abnormal muscle fiber morphology	4534	MTM1	ORPHA:596
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	ORPHA:169186
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	OMIM:255200
HP:0004303	Abnormal muscle fiber morphology	10290	SPEG	ORPHA:169186
HP:0004303	Abnormal muscle fiber morphology	10290	SPEG	OMIM:615959
HP:0004303	Abnormal muscle fiber morphology	64374	SIL1	OMIM:248800
HP:0004303	Abnormal muscle fiber morphology	9453	GGPS1	OMIM:619518
HP:0004303	Abnormal muscle fiber morphology	9782	MATR3	OMIM:606070
HP:0004303	Abnormal muscle fiber morphology	79912	PYROXD1	OMIM:617258
HP:0004303	Abnormal muscle fiber morphology	6606	SMN1	OMIM:271150
HP:0004303	Abnormal muscle fiber morphology	64419	MTMR14	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	64419	MTMR14	OMIM:160150
HP:0004303	Abnormal muscle fiber morphology	4618	MYF6	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	OMIM:160150
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	OMIM:615368
HP:0004303	Abnormal muscle fiber morphology	54344	DPM3	OMIM:618992
HP:0004303	Abnormal muscle fiber morphology	11149	BVES	OMIM:616812
HP:0004303	Abnormal muscle fiber morphology	182	JAG1	OMIM:619574
HP:0004303	Abnormal muscle fiber morphology	22954	TRIM32	OMIM:254110
HP:0004303	Abnormal muscle fiber morphology	859	CAV3	OMIM:614321
HP:0004303	Abnormal muscle fiber morphology	85365	ALG2	OMIM:616228
HP:0004303	Abnormal muscle fiber morphology	124093	CCDC78	OMIM:614807
HP:0004303	Abnormal muscle fiber morphology	10367	MICU1	ORPHA:401768
HP:0004303	Abnormal muscle fiber morphology	23676	SMPX	OMIM:301075
HP:0004303	Abnormal muscle fiber morphology	284119	CAVIN1	OMIM:613327
HP:0004303	Abnormal muscle fiber morphology	5255	PHKA1	OMIM:300559
HP:0004303	Abnormal muscle fiber morphology	64208	POPDC3	OMIM:618848
HP:0004303	Abnormal muscle fiber morphology	84466	MEGF10	OMIM:614399
HP:0004303	Abnormal muscle fiber morphology	8449	DHX16	OMIM:618733
HP:0004303	Abnormal muscle fiber morphology	203547	VMA21	OMIM:310440
HP:0004303	Abnormal muscle fiber morphology	10020	GNE	OMIM:605820
HP:0004303	Abnormal muscle fiber morphology	5663	PSEN1	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	5664	PSEN2	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	10452	TOMM40	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	351	APP	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	54209	TREM2	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	10347	ABCA7	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	6653	SORL1	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	4709	NDUFB3	OMIM:618246
HP:0004303	Abnormal muscle fiber morphology	56203	LMOD3	OMIM:616165
HP:0004303	Abnormal muscle fiber morphology	56203	LMOD3	ORPHA:171436
HP:0004303	Abnormal muscle fiber morphology	56203	LMOD3	ORPHA:171430
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	OMIM:615731
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171439
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171436
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171433
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171430
HP:0004303	Abnormal muscle fiber morphology	84665	MYPN	OMIM:617336
HP:0004303	Abnormal muscle fiber morphology	84665	MYPN	ORPHA:171439
HP:0004303	Abnormal muscle fiber morphology	84700	MYO18B	OMIM:616549
HP:0004303	Abnormal muscle fiber morphology	390594	KBTBD13	ORPHA:171439
HP:0004303	Abnormal muscle fiber morphology	390594	KBTBD13	OMIM:609273
HP:0004303	Abnormal muscle fiber morphology	1073	CFL2	OMIM:610687
HP:0004303	Abnormal muscle fiber morphology	1073	CFL2	ORPHA:171436
HP:0004303	Abnormal muscle fiber morphology	4747	NEFL	OMIM:607684
HP:0004303	Abnormal muscle fiber morphology	131377	KLHL40	ORPHA:171430
HP:0004303	Abnormal muscle fiber morphology	131377	KLHL40	OMIM:615348
HP:0004303	Abnormal muscle fiber morphology	23287	AGTPBP1	OMIM:618276
HP:0004303	Abnormal muscle fiber morphology	55033	FKBP14	OMIM:614557
HP:0004303	Abnormal muscle fiber morphology	4038	LRP4	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	4038	LRP4	OMIM:616304
HP:0004303	Abnormal muscle fiber morphology	1144	CHRND	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	4593	MUSK	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	5913	RAPSN	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	221264	AK9	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	285489	DOK7	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	3736	KCNA1	ORPHA:972
HP:0004303	Abnormal muscle fiber morphology	7072	TIA1	OMIM:604454
HP:0004303	Abnormal muscle fiber morphology	7072	TIA1	ORPHA:603
HP:0004303	Abnormal muscle fiber morphology	57104	PNPLA2	ORPHA:565612
HP:0004303	Abnormal muscle fiber morphology	57104	PNPLA2	ORPHA:98908
HP:0004303	Abnormal muscle fiber morphology	9987	HNRNPDL	OMIM:609115
HP:0004303	Abnormal muscle fiber morphology	6329	SCN4A	ORPHA:681
HP:0004303	Abnormal muscle fiber morphology	10008	KCNE3	ORPHA:681
HP:0004303	Abnormal muscle fiber morphology	2737	GLI3	OMIM:175700
HP:0004303	Abnormal muscle fiber morphology	7317	UBA1	ORPHA:1145
HP:0004303	Abnormal muscle fiber morphology	100134444	KCNJ18	ORPHA:79102
HP:0004303	Abnormal muscle fiber morphology	2556	GABRA3	ORPHA:79102
HP:0004303	Abnormal muscle fiber morphology	1185	CLCN6	OMIM:619173
HP:0004303	Abnormal muscle fiber morphology	26235	FBXL4	OMIM:615471
HP:0004303	Abnormal muscle fiber morphology	84274	COQ5	OMIM:619028
HP:0004303	Abnormal muscle fiber morphology	5442	POLRMT	OMIM:619743
HP:0004303	Abnormal muscle fiber morphology	339855	KY	OMIM:617114
HP:0004303	Abnormal muscle fiber morphology	1778	DYNC1H1	OMIM:158600
HP:0004303	Abnormal muscle fiber morphology	3190	HNRNPK	ORPHA:453504
HP:0004303	Abnormal muscle fiber morphology	3190	HNRNPK	ORPHA:352665
HP:0004303	Abnormal muscle fiber morphology	4633	MYL2	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	3679	ITGA7	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	7169	TPM2	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	9200	HACD1	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	7170	TPM3	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	4000	LMNA	ORPHA:98855
HP:0004303	Abnormal muscle fiber morphology	4000	LMNA	ORPHA:98853
HP:0004303	Abnormal muscle fiber morphology	2010	EMD	OMIM:310300
HP:0004303	Abnormal muscle fiber morphology	2010	EMD	ORPHA:98863
HP:0004303	Abnormal muscle fiber morphology	2273	FHL1	ORPHA:98863
HP:0004303	Abnormal muscle fiber morphology	79188	TMEM43	ORPHA:98853
HP:0004303	Abnormal muscle fiber morphology	23224	SYNE2	ORPHA:98853
HP:0004303	Abnormal muscle fiber morphology	5468	PPARG	ORPHA:79083
HP:0004303	Abnormal muscle fiber morphology	8087	FXR1	OMIM:618823
HP:0004303	Abnormal muscle fiber morphology	1674	DES	OMIM:181400
HP:0004303	Abnormal muscle fiber morphology	7138	TNNT1	OMIM:605355
HP:0004303	Abnormal muscle fiber morphology	8878	SQSTM1	OMIM:617158
HP:0004303	Abnormal muscle fiber morphology	146862	UNC45B	OMIM:619178
HP:0004303	Abnormal muscle fiber morphology	3920	LAMP2	OMIM:300257
HP:0004303	Abnormal muscle fiber morphology	9570	GOSR2	OMIM:620166
HP:0004303	Abnormal muscle fiber morphology	2671	GFER	ORPHA:330054
HP:0004303	Abnormal muscle fiber morphology	29925	GMPPB	ORPHA:370968
HP:0004303	Abnormal muscle fiber morphology	29925	GMPPB	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	79147	FKRP	ORPHA:370968
HP:0004303	Abnormal muscle fiber morphology	79147	FKRP	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	79147	FKRP	ORPHA:34515
HP:0004303	Abnormal muscle fiber morphology	79147	FKRP	ORPHA:370980
HP:0004303	Abnormal muscle fiber morphology	29954	POMT2	ORPHA:370968
HP:0004303	Abnormal muscle fiber morphology	29954	POMT2	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	29954	POMT2	ORPHA:206559
HP:0004303	Abnormal muscle fiber morphology	9215	LARGE1	ORPHA:370968
HP:0004303	Abnormal muscle fiber morphology	10585	POMT1	ORPHA:370968
HP:0004303	Abnormal muscle fiber morphology	10585	POMT1	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	10585	POMT1	ORPHA:370980
HP:0004303	Abnormal muscle fiber morphology	84197	POMK	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	55624	POMGNT1	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	1605	DAG1	ORPHA:280333
HP:0004303	Abnormal muscle fiber morphology	2218	FKTN	ORPHA:370980
HP:0004303	Abnormal muscle fiber morphology	729920	CRPPA	ORPHA:370980
HP:0004303	Abnormal muscle fiber morphology	442721	LMOD2	OMIM:619897
HP:0004303	Abnormal muscle fiber morphology	8884	SLC5A6	OMIM:619903
HP:0004303	Abnormal muscle fiber morphology	10730	YME1L1	OMIM:617302
HP:0004303	Abnormal muscle fiber morphology	311	ANXA11	OMIM:619733
HP:0004303	Abnormal muscle fiber morphology	11117	EMILIN1	OMIM:620080
HP:0004303	Abnormal muscle fiber morphology	79784	MYH14	OMIM:614369
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	OMIM:607459
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	OMIM:271245
HP:0004303	Abnormal muscle fiber morphology	65055	REEP1	OMIM:620011
HP:0004303	Abnormal muscle fiber morphology	54332	GDAP1	OMIM:608340
HP:0004303	Abnormal muscle fiber morphology	55791	LRIF1	OMIM:619477
HP:0004303	Abnormal muscle fiber morphology	64135	IFIH1	OMIM:182250
HP:0004303	Abnormal muscle fiber morphology	57190	SELENON	ORPHA:324604
HP:0004303	Abnormal muscle fiber morphology	2521	FUS	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	80208	SPG11	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	10280	SIGMAR1	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	10558	SPTLC1	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	57679	ALS2	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	60684	TRAPPC11	ORPHA:369840
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	OMIM:619542
HP:0004303	Abnormal muscle fiber morphology	7084	TK2	ORPHA:254886
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	ORPHA:254886
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:258450
HP:0004303	Abnormal muscle fiber morphology	3074	HEXB	ORPHA:309169
HP:0004303	Abnormal muscle fiber morphology	88	ACTN2	OMIM:618654
HP:0004303	Abnormal muscle fiber morphology	3181	HNRNPA2B1	OMIM:615422
HP:0004303	Abnormal muscle fiber morphology	23230	VPS13A	ORPHA:2388
HP:0004303	Abnormal muscle fiber morphology	60482	SLC5A7	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	4649	MYO9A	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	1305	COL13A1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6576	SLC25A1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6843	VAMP1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	375790	AGRN	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	127833	SYT2	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6572	SLC18A3	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6616	SNAP25	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	57211	ADGRG6	OMIM:616503
HP:0004303	Abnormal muscle fiber morphology	9325	TRIP4	OMIM:616866
HP:0004303	Abnormal muscle fiber morphology	1376	CPT2	ORPHA:228302
HP:0004303	Abnormal muscle fiber morphology	246329	STAC3	ORPHA:168572
HP:0004303	Abnormal muscle fiber morphology	5351	PLOD1	ORPHA:1900
HP:0004303	Abnormal muscle fiber morphology	3908	LAMA2	ORPHA:258
HP:0004303	Abnormal muscle fiber morphology	2801	GOLGA2	OMIM:620240
HP:0004303	Abnormal muscle fiber morphology	26092	TOR1AIP1	OMIM:617072
HP:0004303	Abnormal muscle fiber morphology	10755	GIPC1	OMIM:618940
HP:0004303	Abnormal muscle fiber morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0004303	Abnormal muscle fiber morphology	23345	SYNE1	OMIM:618484
HP:0004303	Abnormal muscle fiber morphology	779	CACNA1S	OMIM:620246
HP:0004303	Abnormal muscle fiber morphology	9990	SLC12A6	OMIM:620068
HP:0004303	Abnormal muscle fiber morphology	6442	SGCA	OMIM:608099
HP:0004303	Abnormal muscle fiber morphology	1303	COL12A1	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1291	COL6A1	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1292	COL6A2	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1293	COL6A3	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	9499	MYOT	ORPHA:266
HP:0004303	Abnormal muscle fiber morphology	1120	CHKB	OMIM:602541
HP:0004303	Abnormal muscle fiber morphology	4632	MYL1	OMIM:618414
HP:0004303	Abnormal muscle fiber morphology	90523	MLIP	OMIM:620138
HP:0004303	Abnormal muscle fiber morphology	23534	TNPO3	OMIM:608423
HP:0004303	Abnormal muscle fiber morphology	3178	HNRNPA1	OMIM:615424
HP:0004303	Abnormal muscle fiber morphology	3178	HNRNPA1	OMIM:615426
HP:0004303	Abnormal muscle fiber morphology	4620	MYH2	OMIM:605637
HP:0004303	Abnormal muscle fiber morphology	2992	GYG1	OMIM:616199
HP:0003707	Calf muscle pseudohypertrophy	6445	SGCG	ORPHA:353
HP:0003707	Calf muscle pseudohypertrophy	6445	SGCG	OMIM:253700
HP:0003707	Calf muscle pseudohypertrophy	29925	GMPPB	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	79147	FKRP	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	29954	POMT2	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	84197	POMK	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	55624	POMGNT1	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	10585	POMT1	ORPHA:370959
HP:0003707	Calf muscle pseudohypertrophy	1756	DMD	OMIM:300376
HP:0003707	Calf muscle pseudohypertrophy	1756	DMD	OMIM:310200
HP:0003707	Calf muscle pseudohypertrophy	1605	DAG1	ORPHA:280333
HP:0003707	Calf muscle pseudohypertrophy	203859	ANO5	ORPHA:399096
HP:0003707	Calf muscle pseudohypertrophy	22954	TRIM32	OMIM:254110
HP:0003707	Calf muscle pseudohypertrophy	5468	PPARG	ORPHA:79083
HP:0003707	Calf muscle pseudohypertrophy	859	CAV3	ORPHA:488650
HP:0003707	Calf muscle pseudohypertrophy	6443	SGCB	OMIM:604286
HP:0003707	Calf muscle pseudohypertrophy	4625	MYH7	OMIM:608358
HP:0003707	Calf muscle pseudohypertrophy	4703	NEB	OMIM:256030
HP:0003707	Calf muscle pseudohypertrophy	6442	SGCA	ORPHA:62
HP:0003707	Calf muscle pseudohypertrophy	729920	CRPPA	ORPHA:352479
HP:0003011	Abnormality of the musculature	51422	PRKAG2	OMIM:261740
HP:0003011	Abnormality of the musculature	9158	FIBP	ORPHA:500095
HP:0003011	Abnormality of the musculature	9158	FIBP	OMIM:617107
HP:0003011	Abnormality of the musculature	27125	AFF4	ORPHA:444077
HP:0003011	Abnormality of the musculature	91754	NEK9	OMIM:617022
HP:0003011	Abnormality of the musculature	10758	TRAF3IP2	OMIM:615527
HP:0003011	Abnormality of the musculature	10084	PQBP1	ORPHA:93947
HP:0003011	Abnormality of the musculature	3572	IL6ST	OMIM:618523
HP:0003011	Abnormality of the musculature	83550	GPR101	ORPHA:963
HP:0003011	Abnormality of the musculature	9049	AIP	ORPHA:963
HP:0003011	Abnormality of the musculature	10483	SEC23B	ORPHA:201
HP:0003011	Abnormality of the musculature	6391	SDHC	ORPHA:201
HP:0003011	Abnormality of the musculature	205717	USF3	ORPHA:201
HP:0003011	Abnormality of the musculature	100144748	KLLN	ORPHA:201
HP:0003011	Abnormality of the musculature	7067	THRA	OMIM:614450
HP:0003011	Abnormality of the musculature	3070	HELLS	ORPHA:2268
HP:0003011	Abnormality of the musculature	83879	CDCA7	ORPHA:2268
HP:0003011	Abnormality of the musculature	9841	ZBTB24	ORPHA:2268
HP:0003011	Abnormality of the musculature	2799	GNS	OMIM:252940
HP:0003011	Abnormality of the musculature	4920	ROR2	OMIM:268310
HP:0003011	Abnormality of the musculature	284098	PIGW	OMIM:616025
HP:0003011	Abnormality of the musculature	10984	KCNQ1OT1	OMIM:130650
HP:0003011	Abnormality of the musculature	3784	KCNQ1	OMIM:130650
HP:0003011	Abnormality of the musculature	5286	PIK3C2A	OMIM:618440
HP:0003011	Abnormality of the musculature	3643	INSR	ORPHA:769
HP:0003011	Abnormality of the musculature	55679	LIMS2	OMIM:616827
HP:0003011	Abnormality of the musculature	5468	PPARG	ORPHA:528
HP:0003011	Abnormality of the musculature	10555	AGPAT2	ORPHA:528
HP:0003011	Abnormality of the musculature	2353	FOS	ORPHA:528
HP:0003011	Abnormality of the musculature	7474	WNT5A	OMIM:180700
HP:0003011	Abnormality of the musculature	1855	DVL1	OMIM:180700
HP:0003011	Abnormality of the musculature	29940	DSE	OMIM:615539
HP:0003011	Abnormality of the musculature	64132	XYLT2	ORPHA:85194
HP:0003011	Abnormality of the musculature	5521	PPP2R2B	OMIM:604326
HP:0003011	Abnormality of the musculature	10907	TXNL4A	OMIM:608572
HP:0003011	Abnormality of the musculature	10935	PRDX3	OMIM:619862
HP:0003011	Abnormality of the musculature	54862	CC2D1A	OMIM:608443
HP:0003011	Abnormality of the musculature	2774	GNAL	OMIM:615073
HP:0003011	Abnormality of the musculature	2774	GNAL	ORPHA:329466
HP:0003011	Abnormality of the musculature	63982	ANO3	ORPHA:420485
HP:0003011	Abnormality of the musculature	63982	ANO3	OMIM:615034
HP:0003011	Abnormality of the musculature	64601	VPS16	OMIM:619291
HP:0003011	Abnormality of the musculature	1813	DRD2	ORPHA:36899
HP:0003011	Abnormality of the musculature	79734	KCTD17	ORPHA:36899
HP:0003011	Abnormality of the musculature	79734	KCTD17	OMIM:616398
HP:0003011	Abnormality of the musculature	55145	THAP1	ORPHA:98806
HP:0003011	Abnormality of the musculature	55145	THAP1	OMIM:602629
HP:0003011	Abnormality of the musculature	11198	SUPT16H	OMIM:619480
HP:0003011	Abnormality of the musculature	4617	MYF5	OMIM:618155
HP:0003011	Abnormality of the musculature	256472	TMEM151A	OMIM:620245
HP:0003011	Abnormality of the musculature	7042	TGFB2	OMIM:614816
HP:0003011	Abnormality of the musculature	6342	SCP2	OMIM:613724
HP:0003011	Abnormality of the musculature	10262	SF3B4	OMIM:154400
HP:0003011	Abnormality of the musculature	55784	MCTP2	ORPHA:1596
HP:0003011	Abnormality of the musculature	1147	CHUK	OMIM:613630
HP:0003011	Abnormality of the musculature	2626	GATA4	ORPHA:251071
HP:0003011	Abnormality of the musculature	4036	LRP2	ORPHA:2143
HP:0003011	Abnormality of the musculature	4036	LRP2	OMIM:222448
HP:0003011	Abnormality of the musculature	57216	VANGL2	ORPHA:563609
HP:0003011	Abnormality of the musculature	10293	TRAIP	OMIM:616777
HP:0003011	Abnormality of the musculature	745	MYRF	OMIM:618280
HP:0003011	Abnormality of the musculature	7473	WNT3	OMIM:273395
HP:0003011	Abnormality of the musculature	54361	WNT4	OMIM:611812
HP:0003011	Abnormality of the musculature	54361	WNT4	ORPHA:139466
HP:0003011	Abnormality of the musculature	4281	MID1	ORPHA:2745
HP:0003011	Abnormality of the musculature	51339	DACT1	ORPHA:63260
HP:0003011	Abnormality of the musculature	64093	SMOC1	OMIM:206920
HP:0003011	Abnormality of the musculature	64093	SMOC1	ORPHA:1106
HP:0003011	Abnormality of the musculature	6135	RPL11	ORPHA:124
HP:0003011	Abnormality of the musculature	6138	RPL15	ORPHA:124
HP:0003011	Abnormality of the musculature	6229	RPS24	ORPHA:124
HP:0003011	Abnormality of the musculature	6125	RPL5	ORPHA:124
HP:0003011	Abnormality of the musculature	6204	RPS10	ORPHA:124
HP:0003011	Abnormality of the musculature	6165	RPL35A	ORPHA:124
HP:0003011	Abnormality of the musculature	6223	RPS19	ORPHA:124
HP:0003011	Abnormality of the musculature	6232	RPS27	ORPHA:124
HP:0003011	Abnormality of the musculature	6231	RPS26	ORPHA:124
HP:0003011	Abnormality of the musculature	11224	RPL35	ORPHA:124
HP:0003011	Abnormality of the musculature	6160	RPL31	ORPHA:124
HP:0003011	Abnormality of the musculature	6218	RPS17	ORPHA:124
HP:0003011	Abnormality of the musculature	6201	RPS7	ORPHA:124
HP:0003011	Abnormality of the musculature	6155	RPL27	ORPHA:124
HP:0003011	Abnormality of the musculature	6154	RPL26	ORPHA:124
HP:0003011	Abnormality of the musculature	6210	RPS15A	ORPHA:124
HP:0003011	Abnormality of the musculature	90121	TSR2	ORPHA:124
HP:0003011	Abnormality of the musculature	6141	RPL18	ORPHA:124
HP:0003011	Abnormality of the musculature	6235	RPS29	ORPHA:124
HP:0003011	Abnormality of the musculature	6234	RPS28	ORPHA:124
HP:0003011	Abnormality of the musculature	51816	ADA2	ORPHA:124
HP:0003011	Abnormality of the musculature	29895	MYL11	OMIM:619110
HP:0003011	Abnormality of the musculature	4313	MMP2	OMIM:259600
HP:0003011	Abnormality of the musculature	6910	TBX5	OMIM:142900
HP:0003011	Abnormality of the musculature	5889	RAD51C	OMIM:613390
HP:0003011	Abnormality of the musculature	9775	EIF4A3	OMIM:268305
HP:0003011	Abnormality of the musculature	3209	HOXA13	OMIM:140000
HP:0003011	Abnormality of the musculature	1139	CHRNA7	ORPHA:199318
HP:0003011	Abnormality of the musculature	1139	CHRNA7	OMIM:612001
HP:0003011	Abnormality of the musculature	55209	SETD5	ORPHA:404440
HP:0003011	Abnormality of the musculature	283489	CHAMP1	OMIM:616579
HP:0003011	Abnormality of the musculature	27245	AHDC1	ORPHA:412069
HP:0003011	Abnormality of the musculature	27245	AHDC1	OMIM:615829
HP:0003011	Abnormality of the musculature	54806	AHI1	ORPHA:220493
HP:0003011	Abnormality of the musculature	54806	AHI1	ORPHA:475
HP:0003011	Abnormality of the musculature	54806	AHI1	OMIM:608629
HP:0003011	Abnormality of the musculature	153241	CEP120	ORPHA:220493
HP:0003011	Abnormality of the musculature	153241	CEP120	OMIM:617761
HP:0003011	Abnormality of the musculature	153241	CEP120	ORPHA:475
HP:0003011	Abnormality of the musculature	79693	YRDC	OMIM:619609
HP:0003011	Abnormality of the musculature	7253	TSHR	ORPHA:90673
HP:0003011	Abnormality of the musculature	7253	TSHR	ORPHA:95720
HP:0003011	Abnormality of the musculature	7253	TSHR	ORPHA:95713
HP:0003011	Abnormality of the musculature	7252	TSHB	ORPHA:90674
HP:0003011	Abnormality of the musculature	7252	TSHB	OMIM:275100
HP:0003011	Abnormality of the musculature	8029	CUBN	ORPHA:35858
HP:0003011	Abnormality of the musculature	81693	AMN	ORPHA:35858
HP:0003011	Abnormality of the musculature	3190	HNRNPK	OMIM:616580
HP:0003011	Abnormality of the musculature	3190	HNRNPK	ORPHA:453504
HP:0003011	Abnormality of the musculature	3190	HNRNPK	ORPHA:352665
HP:0003011	Abnormality of the musculature	54453	RIN2	OMIM:613075
HP:0003011	Abnormality of the musculature	2261	FGFR3	ORPHA:1860
HP:0003011	Abnormality of the musculature	2261	FGFR3	ORPHA:93274
HP:0003011	Abnormality of the musculature	2261	FGFR3	OMIM:187600
HP:0003011	Abnormality of the musculature	7386	UQCRFS1	OMIM:618775
HP:0003011	Abnormality of the musculature	790955	UQCC3	OMIM:616111
HP:0003011	Abnormality of the musculature	3340	NDST1	OMIM:616116
HP:0003011	Abnormality of the musculature	6602	SMARCD1	OMIM:618779
HP:0003011	Abnormality of the musculature	8493	PPM1D	OMIM:617450
HP:0003011	Abnormality of the musculature	55621	TRMT1	OMIM:618302
HP:0003011	Abnormality of the musculature	5593	PRKG2	OMIM:619638
HP:0003011	Abnormality of the musculature	5593	PRKG2	OMIM:619636
HP:0003011	Abnormality of the musculature	9354	UBE4A	OMIM:619639
HP:0003011	Abnormality of the musculature	5604	MAP2K1	OMIM:615279
HP:0003011	Abnormality of the musculature	5604	MAP2K1	ORPHA:1340
HP:0003011	Abnormality of the musculature	2203	FBP1	ORPHA:348
HP:0003011	Abnormality of the musculature	2203	FBP1	OMIM:229700
HP:0003011	Abnormality of the musculature	5605	MAP2K2	OMIM:615280
HP:0003011	Abnormality of the musculature	5605	MAP2K2	ORPHA:1340
HP:0003011	Abnormality of the musculature	54828	BCAS3	OMIM:619641
HP:0003011	Abnormality of the musculature	253959	RALGAPA1	OMIM:618797
HP:0003011	Abnormality of the musculature	11041	B4GAT1	OMIM:615287
HP:0003011	Abnormality of the musculature	11041	B4GAT1	ORPHA:899
HP:0003011	Abnormality of the musculature	4208	MEF2C	ORPHA:228384
HP:0003011	Abnormality of the musculature	4208	MEF2C	OMIM:613443
HP:0003011	Abnormality of the musculature	2239	GPC4	ORPHA:373
HP:0003011	Abnormality of the musculature	2239	GPC4	OMIM:312870
HP:0003011	Abnormality of the musculature	2719	GPC3	ORPHA:373
HP:0003011	Abnormality of the musculature	2719	GPC3	OMIM:312870
HP:0003011	Abnormality of the musculature	197258	FCSK	OMIM:618324
HP:0003011	Abnormality of the musculature	23499	MACF1	OMIM:618325
HP:0003011	Abnormality of the musculature	2744	GLS	OMIM:618328
HP:0003011	Abnormality of the musculature	5836	PYGL	ORPHA:369
HP:0003011	Abnormality of the musculature	1523	CUX1	OMIM:618330
HP:0003011	Abnormality of the musculature	5813	PURA	OMIM:616158
HP:0003011	Abnormality of the musculature	4921	DDR2	OMIM:271665
HP:0003011	Abnormality of the musculature	8925	HERC1	OMIM:617011
HP:0003011	Abnormality of the musculature	8925	HERC1	ORPHA:457359
HP:0003011	Abnormality of the musculature	2671	GFER	ORPHA:330054
HP:0003011	Abnormality of the musculature	5515	PPP2CA	OMIM:618354
HP:0003011	Abnormality of the musculature	116461	TSEN15	OMIM:617026
HP:0003011	Abnormality of the musculature	51114	ZDHHC9	ORPHA:776
HP:0003011	Abnormality of the musculature	65109	UPF3B	ORPHA:776
HP:0003011	Abnormality of the musculature	65109	UPF3B	OMIM:300676
HP:0003011	Abnormality of the musculature	346171	ZFP57	ORPHA:99886
HP:0003011	Abnormality of the musculature	57061	HYMAI	ORPHA:99886
HP:0003011	Abnormality of the musculature	5325	PLAGL1	ORPHA:99886
HP:0003011	Abnormality of the musculature	79709	COLGALT1	OMIM:618360
HP:0003011	Abnormality of the musculature	22930	RAB3GAP1	OMIM:600118
HP:0003011	Abnormality of the musculature	22930	RAB3GAP1	ORPHA:2510
HP:0003011	Abnormality of the musculature	51434	ANAPC7	OMIM:619699
HP:0003011	Abnormality of the musculature	6601	SMARCC2	OMIM:618362
HP:0003011	Abnormality of the musculature	3054	HCFC1	OMIM:309541
HP:0003011	Abnormality of the musculature	51608	GET4	OMIM:620200
HP:0003011	Abnormality of the musculature	7703	PCGF2	OMIM:618371
HP:0003011	Abnormality of the musculature	7086	TKT	OMIM:617044
HP:0003011	Abnormality of the musculature	7086	TKT	ORPHA:488618
HP:0003011	Abnormality of the musculature	8883	NAE1	OMIM:620210
HP:0003011	Abnormality of the musculature	50801	KCNK4	OMIM:618381
HP:0003011	Abnormality of the musculature	84265	POLR3GL	OMIM:619234
HP:0003011	Abnormality of the musculature	27107	ZBTB11	OMIM:618383
HP:0003011	Abnormality of the musculature	80036	TRPM3	OMIM:620224
HP:0003011	Abnormality of the musculature	1457	CSNK2A1	OMIM:617062
HP:0003011	Abnormality of the musculature	203068	TUBB	OMIM:156610
HP:0003011	Abnormality of the musculature	23112	TNRC6B	OMIM:619243
HP:0003011	Abnormality of the musculature	91875	TTC5	OMIM:619244
HP:0003011	Abnormality of the musculature	10551	AGR2	OMIM:620233
HP:0003011	Abnormality of the musculature	55670	PEX26	ORPHA:772
HP:0003011	Abnormality of the musculature	55670	PEX26	ORPHA:44
HP:0003011	Abnormality of the musculature	5824	PEX19	ORPHA:772
HP:0003011	Abnormality of the musculature	5824	PEX19	ORPHA:44
HP:0003011	Abnormality of the musculature	5824	PEX19	OMIM:614886
HP:0003011	Abnormality of the musculature	8799	PEX11B	ORPHA:772
HP:0003011	Abnormality of the musculature	8799	PEX11B	ORPHA:44
HP:0003011	Abnormality of the musculature	5194	PEX13	ORPHA:772
HP:0003011	Abnormality of the musculature	5194	PEX13	ORPHA:44
HP:0003011	Abnormality of the musculature	5194	PEX13	OMIM:614885
HP:0003011	Abnormality of the musculature	51594	NBAS	OMIM:614800
HP:0003011	Abnormality of the musculature	81615	TMEM163	OMIM:620243
HP:0003011	Abnormality of the musculature	10079	ATP9A	OMIM:620242
HP:0003011	Abnormality of the musculature	64802	NMNAT1	OMIM:619260
HP:0003011	Abnormality of the musculature	64802	NMNAT1	ORPHA:65
HP:0003011	Abnormality of the musculature	5256	PHKA2	OMIM:306000
HP:0003011	Abnormality of the musculature	5256	PHKA2	ORPHA:264580
HP:0003011	Abnormality of the musculature	2294	FOXF1	OMIM:265380
HP:0003011	Abnormality of the musculature	26960	NBEA	OMIM:619157
HP:0003011	Abnormality of the musculature	26128	KIFBP	OMIM:609460
HP:0003011	Abnormality of the musculature	26128	KIFBP	ORPHA:66629
HP:0003011	Abnormality of the musculature	25821	MTO1	OMIM:614702
HP:0003011	Abnormality of the musculature	9640	ZNF592	ORPHA:83472
HP:0003011	Abnormality of the musculature	2314	FLII	ORPHA:819
HP:0003011	Abnormality of the musculature	10522	DEAF1	ORPHA:819
HP:0003011	Abnormality of the musculature	10522	DEAF1	OMIM:615828
HP:0003011	Abnormality of the musculature	10522	DEAF1	OMIM:617171
HP:0003011	Abnormality of the musculature	150468	CKAP2L	ORPHA:3255
HP:0003011	Abnormality of the musculature	429	ASCL1	ORPHA:99803
HP:0003011	Abnormality of the musculature	8929	PHOX2B	ORPHA:99803
HP:0003011	Abnormality of the musculature	8929	PHOX2B	ORPHA:661
HP:0003011	Abnormality of the musculature	26153	KIF26A	OMIM:620156
HP:0003011	Abnormality of the musculature	7125	TNNC2	OMIM:620161
HP:0003011	Abnormality of the musculature	1272	CNTN1	OMIM:612540
HP:0003011	Abnormality of the musculature	5080	PAX6	ORPHA:1065
HP:0003011	Abnormality of the musculature	55858	TMEM165	OMIM:614727
HP:0003011	Abnormality of the musculature	54675	CRLS1	OMIM:620167
HP:0003011	Abnormality of the musculature	222663	SCUBE3	OMIM:619184
HP:0003011	Abnormality of the musculature	9184	BUB3	ORPHA:1052
HP:0003011	Abnormality of the musculature	699	BUB1	ORPHA:1052
HP:0003011	Abnormality of the musculature	9702	CEP57	ORPHA:1052
HP:0003011	Abnormality of the musculature	9702	CEP57	OMIM:614114
HP:0003011	Abnormality of the musculature	9319	TRIP13	ORPHA:1052
HP:0003011	Abnormality of the musculature	55148	UBR7	OMIM:619189
HP:0003011	Abnormality of the musculature	1591	CYP24A1	OMIM:143880
HP:0003011	Abnormality of the musculature	25942	SIN3A	OMIM:613406
HP:0003011	Abnormality of the musculature	25942	SIN3A	ORPHA:94065
HP:0003011	Abnormality of the musculature	79053	ALG8	OMIM:608104
HP:0003011	Abnormality of the musculature	79053	ALG8	ORPHA:79325
HP:0003011	Abnormality of the musculature	3769	KCNJ13	ORPHA:65
HP:0003011	Abnormality of the musculature	343035	RD3	ORPHA:65
HP:0003011	Abnormality of the musculature	145226	RDH12	ORPHA:65
HP:0003011	Abnormality of the musculature	1406	CRX	ORPHA:65
HP:0003011	Abnormality of the musculature	57096	RPGRIP1	ORPHA:65
HP:0003011	Abnormality of the musculature	10383	TUBB4B	ORPHA:65
HP:0003011	Abnormality of the musculature	9742	IFT140	ORPHA:65
HP:0003011	Abnormality of the musculature	9742	IFT140	OMIM:266920
HP:0003011	Abnormality of the musculature	85015	USP45	ORPHA:65
HP:0003011	Abnormality of the musculature	6121	RPE65	ORPHA:65
HP:0003011	Abnormality of the musculature	23418	CRB1	ORPHA:65
HP:0003011	Abnormality of the musculature	5130	PCYT1A	ORPHA:65
HP:0003011	Abnormality of the musculature	9657	IQCB1	ORPHA:65
HP:0003011	Abnormality of the musculature	23746	AIPL1	ORPHA:65
HP:0003011	Abnormality of the musculature	3000	GUCY2D	ORPHA:65
HP:0003011	Abnormality of the musculature	9227	LRAT	ORPHA:65
HP:0003011	Abnormality of the musculature	55812	SPATA7	ORPHA:65
HP:0003011	Abnormality of the musculature	7287	TULP1	ORPHA:65
HP:0003011	Abnormality of the musculature	167691	LCA5	ORPHA:65
HP:0003011	Abnormality of the musculature	3614	IMPDH1	ORPHA:65
HP:0003011	Abnormality of the musculature	7025	NR2F1	ORPHA:401777
HP:0003011	Abnormality of the musculature	7025	NR2F1	OMIM:615722
HP:0003011	Abnormality of the musculature	64327	LMBR1	ORPHA:2378
HP:0003011	Abnormality of the musculature	84720	PIGO	OMIM:614749
HP:0003011	Abnormality of the musculature	3675	ITGA3	OMIM:614748
HP:0003011	Abnormality of the musculature	5649	RELN	OMIM:257320
HP:0003011	Abnormality of the musculature	79759	ZNF668	OMIM:620194
HP:0003011	Abnormality of the musculature	283209	PGM2L1	OMIM:620191
HP:0003011	Abnormality of the musculature	3251	HPRT1	OMIM:300322
HP:0003011	Abnormality of the musculature	182	JAG1	OMIM:118450
HP:0003011	Abnormality of the musculature	182	JAG1	OMIM:619574
HP:0003011	Abnormality of the musculature	22907	DHX30	OMIM:617804
HP:0003011	Abnormality of the musculature	57724	EPG5	ORPHA:1493
HP:0003011	Abnormality of the musculature	57724	EPG5	OMIM:242840
HP:0003011	Abnormality of the musculature	9230	RAB11B	OMIM:617807
HP:0003011	Abnormality of the musculature	6569	SLC34A1	OMIM:616963
HP:0003011	Abnormality of the musculature	132	ADK	OMIM:614300
HP:0003011	Abnormality of the musculature	9759	HDAC4	ORPHA:1001
HP:0003011	Abnormality of the musculature	9759	HDAC4	OMIM:619797
HP:0003011	Abnormality of the musculature	11133	KPTN	OMIM:615637
HP:0003011	Abnormality of the musculature	11133	KPTN	ORPHA:397612
HP:0003011	Abnormality of the musculature	27034	ACAD8	OMIM:611283
HP:0003011	Abnormality of the musculature	27034	ACAD8	ORPHA:79159
HP:0003011	Abnormality of the musculature	54931	TRMT10C	OMIM:616974
HP:0003011	Abnormality of the musculature	8085	KMT2D	ORPHA:2322
HP:0003011	Abnormality of the musculature	8085	KMT2D	OMIM:147920
HP:0003011	Abnormality of the musculature	3097	HIVEP2	OMIM:616977
HP:0003011	Abnormality of the musculature	4692	NDN	ORPHA:177904
HP:0003011	Abnormality of the musculature	4692	NDN	ORPHA:177901
HP:0003011	Abnormality of the musculature	4692	NDN	ORPHA:98754
HP:0003011	Abnormality of the musculature	2332	FMR1	ORPHA:449291
HP:0003011	Abnormality of the musculature	2332	FMR1	ORPHA:261483
HP:0003011	Abnormality of the musculature	2332	FMR1	ORPHA:908
HP:0003011	Abnormality of the musculature	388753	COA6	OMIM:616501
HP:0003011	Abnormality of the musculature	6678	SPARC	OMIM:616507
HP:0003011	Abnormality of the musculature	79583	TMEM231	ORPHA:2318
HP:0003011	Abnormality of the musculature	51524	TMEM138	ORPHA:2318
HP:0003011	Abnormality of the musculature	23090	ZNF423	ORPHA:2318
HP:0003011	Abnormality of the musculature	57545	CC2D2A	ORPHA:2318
HP:0003011	Abnormality of the musculature	57545	CC2D2A	ORPHA:1454
HP:0003011	Abnormality of the musculature	4982	TNFRSF11B	OMIM:239000
HP:0003011	Abnormality of the musculature	4854	NOTCH3	ORPHA:2789
HP:0003011	Abnormality of the musculature	4854	NOTCH3	OMIM:130720
HP:0003011	Abnormality of the musculature	55180	LINS1	OMIM:614340
HP:0003011	Abnormality of the musculature	85440	DOCK7	ORPHA:411986
HP:0003011	Abnormality of the musculature	85440	DOCK7	OMIM:615859
HP:0003011	Abnormality of the musculature	122553	TRAPPC6B	OMIM:617862
HP:0003011	Abnormality of the musculature	5261	PHKG2	OMIM:613027
HP:0003011	Abnormality of the musculature	5261	PHKG2	ORPHA:264580
HP:0003011	Abnormality of the musculature	10577	NPC2	OMIM:607625
HP:0003011	Abnormality of the musculature	650	BMP2	OMIM:617877
HP:0003011	Abnormality of the musculature	650	BMP2	ORPHA:261295
HP:0003011	Abnormality of the musculature	4724	NDUFS4	OMIM:252010
HP:0003011	Abnormality of the musculature	4724	NDUFS4	ORPHA:255241
HP:0003011	Abnormality of the musculature	4724	NDUFS4	ORPHA:2609
HP:0003011	Abnormality of the musculature	8777	MPDZ	OMIM:615219
HP:0003011	Abnormality of the musculature	5449	POU1F1	OMIM:613038
HP:0003011	Abnormality of the musculature	5449	POU1F1	ORPHA:226307
HP:0003011	Abnormality of the musculature	2182	ACSL4	OMIM:300387
HP:0003011	Abnormality of the musculature	2182	ACSL4	ORPHA:86818
HP:0003011	Abnormality of the musculature	7528	YY1	ORPHA:506358
HP:0003011	Abnormality of the musculature	7528	YY1	OMIM:617557
HP:0003011	Abnormality of the musculature	8367	H4C5	OMIM:619950
HP:0003011	Abnormality of the musculature	8294	H4C9	OMIM:619951
HP:0003011	Abnormality of the musculature	57128	LYRM4	OMIM:615595
HP:0003011	Abnormality of the musculature	9853	RUSC2	OMIM:617773
HP:0003011	Abnormality of the musculature	343450	KCNT2	OMIM:617771
HP:0003011	Abnormality of the musculature	1355	COX15	OMIM:615119
HP:0003011	Abnormality of the musculature	1355	COX15	ORPHA:255241
HP:0003011	Abnormality of the musculature	22800	RRAS2	OMIM:618624
HP:0003011	Abnormality of the musculature	22800	RRAS2	ORPHA:648
HP:0003011	Abnormality of the musculature	55733	HHAT	OMIM:600092
HP:0003011	Abnormality of the musculature	790	CAD	OMIM:616457
HP:0003011	Abnormality of the musculature	10730	YME1L1	OMIM:617302
HP:0003011	Abnormality of the musculature	129563	DIS3L2	ORPHA:2849
HP:0003011	Abnormality of the musculature	28960	DCPS	OMIM:616459
HP:0003011	Abnormality of the musculature	4286	MITF	OMIM:617306
HP:0003011	Abnormality of the musculature	57231	SNX14	ORPHA:397709
HP:0003011	Abnormality of the musculature	57231	SNX14	OMIM:616354
HP:0003011	Abnormality of the musculature	91869	RFT1	ORPHA:244310
HP:0003011	Abnormality of the musculature	91869	RFT1	OMIM:612015
HP:0003011	Abnormality of the musculature	816	CAMK2B	OMIM:617799
HP:0003011	Abnormality of the musculature	815	CAMK2A	OMIM:617798
HP:0003011	Abnormality of the musculature	815	CAMK2A	OMIM:618095
HP:0003011	Abnormality of the musculature	1289	COL5A1	ORPHA:287
HP:0003011	Abnormality of the musculature	1290	COL5A2	ORPHA:287
HP:0003011	Abnormality of the musculature	652	BMP4	OMIM:607932
HP:0003011	Abnormality of the musculature	7469	NELFA	ORPHA:280
HP:0003011	Abnormality of the musculature	283987	HID1	OMIM:619983
HP:0003011	Abnormality of the musculature	1656	DDX6	OMIM:618653
HP:0003011	Abnormality of the musculature	1501	CTNND2	ORPHA:281
HP:0003011	Abnormality of the musculature	9037	SEMA5A	ORPHA:281
HP:0003011	Abnormality of the musculature	497661	C18orf32	OMIM:619985
HP:0003011	Abnormality of the musculature	57178	ZMIZ1	OMIM:618659
HP:0003011	Abnormality of the musculature	1621	DBH	ORPHA:230
HP:0003011	Abnormality of the musculature	1621	DBH	OMIM:223360
HP:0003011	Abnormality of the musculature	1182	CLCN3	OMIM:619512
HP:0003011	Abnormality of the musculature	7862	BRPF1	OMIM:617333
HP:0003011	Abnormality of the musculature	54914	FOCAD	OMIM:619991
HP:0003011	Abnormality of the musculature	3481	IGF2	OMIM:616489
HP:0003011	Abnormality of the musculature	4191	MDH2	OMIM:617339
HP:0003011	Abnormality of the musculature	7750	ZMYM2	OMIM:619522
HP:0003011	Abnormality of the musculature	4849	CNOT3	OMIM:618672
HP:0003011	Abnormality of the musculature	22	ABCB7	ORPHA:2802
HP:0003011	Abnormality of the musculature	2542	SLC37A4	OMIM:619525
HP:0003011	Abnormality of the musculature	57492	ARID1B	ORPHA:251056
HP:0003011	Abnormality of the musculature	57492	ARID1B	OMIM:135900
HP:0003011	Abnormality of the musculature	79989	IFT56	OMIM:619534
HP:0003011	Abnormality of the musculature	1107	CHD3	OMIM:618205
HP:0003011	Abnormality of the musculature	23189	KANK1	OMIM:612900
HP:0003011	Abnormality of the musculature	340533	NEXMIF	ORPHA:1942
HP:0003011	Abnormality of the musculature	340533	NEXMIF	OMIM:300912
HP:0003011	Abnormality of the musculature	1106	CHD2	ORPHA:1942
HP:0003011	Abnormality of the musculature	6529	SLC6A1	ORPHA:1942
HP:0003011	Abnormality of the musculature	6529	SLC6A1	OMIM:616421
HP:0003011	Abnormality of the musculature	8621	CDK13	OMIM:617360
HP:0003011	Abnormality of the musculature	164	AP1G1	OMIM:619548
HP:0003011	Abnormality of the musculature	164	AP1G1	OMIM:619467
HP:0003011	Abnormality of the musculature	79751	SLC25A22	ORPHA:1935
HP:0003011	Abnormality of the musculature	79751	SLC25A22	OMIM:609304
HP:0003011	Abnormality of the musculature	150094	SIK1	ORPHA:1935
HP:0003011	Abnormality of the musculature	4728	NDUFS8	OMIM:618222
HP:0003011	Abnormality of the musculature	4728	NDUFS8	ORPHA:255241
HP:0003011	Abnormality of the musculature	4728	NDUFS8	ORPHA:2609
HP:0003011	Abnormality of the musculature	4723	NDUFV1	OMIM:618225
HP:0003011	Abnormality of the musculature	4723	NDUFV1	ORPHA:255241
HP:0003011	Abnormality of the musculature	4723	NDUFV1	ORPHA:2609
HP:0003011	Abnormality of the musculature	79705	LRRK1	OMIM:615198
HP:0003011	Abnormality of the musculature	55628	ZNF407	OMIM:619557
HP:0003011	Abnormality of the musculature	1908	EDN3	ORPHA:661
HP:0003011	Abnormality of the musculature	2668	GDNF	ORPHA:661
HP:0003011	Abnormality of the musculature	627	BDNF	ORPHA:661
HP:0003011	Abnormality of the musculature	283446	MYO1H	ORPHA:661
HP:0003011	Abnormality of the musculature	283446	MYO1H	OMIM:619482
HP:0003011	Abnormality of the musculature	91942	NDUFAF2	OMIM:618233
HP:0003011	Abnormality of the musculature	91942	NDUFAF2	ORPHA:255241
HP:0003011	Abnormality of the musculature	91942	NDUFAF2	ORPHA:2609
HP:0003011	Abnormality of the musculature	51103	NDUFAF1	OMIM:618234
HP:0003011	Abnormality of the musculature	51103	NDUFAF1	ORPHA:2609
HP:0003011	Abnormality of the musculature	137682	NDUFAF6	OMIM:618239
HP:0003011	Abnormality of the musculature	137682	NDUFAF6	ORPHA:255241
HP:0003011	Abnormality of the musculature	1741	DLG3	OMIM:300850
HP:0003011	Abnormality of the musculature	57551	TAOK1	OMIM:619575
HP:0003011	Abnormality of the musculature	4715	NDUFB9	OMIM:618245
HP:0003011	Abnormality of the musculature	4715	NDUFB9	ORPHA:2609
HP:0003011	Abnormality of the musculature	22796	COG2	OMIM:617395
HP:0003011	Abnormality of the musculature	4709	NDUFB3	OMIM:618246
HP:0003011	Abnormality of the musculature	4709	NDUFB3	ORPHA:2609
HP:0003011	Abnormality of the musculature	55572	FOXRED1	OMIM:618241
HP:0003011	Abnormality of the musculature	55572	FOXRED1	ORPHA:255241
HP:0003011	Abnormality of the musculature	55572	FOXRED1	ORPHA:2609
HP:0003011	Abnormality of the musculature	4705	NDUFA10	OMIM:618243
HP:0003011	Abnormality of the musculature	4705	NDUFA10	ORPHA:255241
HP:0003011	Abnormality of the musculature	123263	MTFMT	OMIM:618248
HP:0003011	Abnormality of the musculature	123263	MTFMT	OMIM:614947
HP:0003011	Abnormality of the musculature	123263	MTFMT	ORPHA:255241
HP:0003011	Abnormality of the musculature	9719	ADAMTSL2	ORPHA:1901
HP:0003011	Abnormality of the musculature	9509	ADAMTS2	ORPHA:1901
HP:0003011	Abnormality of the musculature	8604	SLC25A12	OMIM:612949
HP:0003011	Abnormality of the musculature	9496	TBX4	ORPHA:261279
HP:0003011	Abnormality of the musculature	51300	TIMMDC1	OMIM:618251
HP:0003011	Abnormality of the musculature	51300	TIMMDC1	ORPHA:2609
HP:0003011	Abnormality of the musculature	80173	IFT74	OMIM:619582
HP:0003011	Abnormality of the musculature	6023	RMRP	OMIM:607095
HP:0003011	Abnormality of the musculature	6023	RMRP	ORPHA:175
HP:0003011	Abnormality of the musculature	5250	SLC25A3	OMIM:610773
HP:0003011	Abnormality of the musculature	5250	SLC25A3	ORPHA:91130
HP:0003011	Abnormality of the musculature	2683	B4GALT1	OMIM:607091
HP:0003011	Abnormality of the musculature	10771	ZMYND11	OMIM:616083
HP:0003011	Abnormality of the musculature	57003	CCDC47	OMIM:618268
HP:0003011	Abnormality of the musculature	10847	SRCAP	OMIM:619595
HP:0003011	Abnormality of the musculature	55526	DHTKD1	OMIM:204750
HP:0003011	Abnormality of the musculature	23287	AGTPBP1	OMIM:618276
HP:0003011	Abnormality of the musculature	23287	AGTPBP1	ORPHA:2254
HP:0003011	Abnormality of the musculature	118924	FRA10AC1	OMIM:620113
HP:0003011	Abnormality of the musculature	8911	CACNA1I	OMIM:620114
HP:0003011	Abnormality of the musculature	11014	KDELR2	OMIM:619131
HP:0003011	Abnormality of the musculature	4781	NFIB	OMIM:618286
HP:0003011	Abnormality of the musculature	9487	PIGL	OMIM:280000
HP:0003011	Abnormality of the musculature	867	CBL	ORPHA:648
HP:0003011	Abnormality of the musculature	867	CBL	OMIM:613563
HP:0003011	Abnormality of the musculature	8216	LZTR1	ORPHA:648
HP:0003011	Abnormality of the musculature	6016	RIT1	ORPHA:648
HP:0003011	Abnormality of the musculature	6237	RRAS	ORPHA:648
HP:0003011	Abnormality of the musculature	22808	MRAS	ORPHA:648
HP:0003011	Abnormality of the musculature	22808	MRAS	OMIM:618499
HP:0003011	Abnormality of the musculature	6654	SOS1	ORPHA:648
HP:0003011	Abnormality of the musculature	6655	SOS2	ORPHA:648
HP:0003011	Abnormality of the musculature	5922	RASA2	ORPHA:648
HP:0003011	Abnormality of the musculature	1795	DOCK3	OMIM:618292
HP:0003011	Abnormality of the musculature	27161	AGO2	OMIM:619149
HP:0003011	Abnormality of the musculature	8665	EIF3F	OMIM:618295
HP:0003011	Abnormality of the musculature	26275	HIBCH	OMIM:250620
HP:0003011	Abnormality of the musculature	26275	HIBCH	ORPHA:88639
HP:0003011	Abnormality of the musculature	50640	PNPLA8	OMIM:251950
HP:0003011	Abnormality of the musculature	9871	SEC24D	ORPHA:2050
HP:0003011	Abnormality of the musculature	9871	SEC24D	OMIM:616294
HP:0003011	Abnormality of the musculature	5034	P4HB	ORPHA:2050
HP:0003011	Abnormality of the musculature	7109	TRAPPC10	OMIM:620027
HP:0003011	Abnormality of the musculature	55325	UFSP2	OMIM:620028
HP:0003011	Abnormality of the musculature	10274	STAG1	ORPHA:502434
HP:0003011	Abnormality of the musculature	4774	NFIA	OMIM:613735
HP:0003011	Abnormality of the musculature	4774	NFIA	ORPHA:401986
HP:0003011	Abnormality of the musculature	501	ALDH7A1	OMIM:266100
HP:0003011	Abnormality of the musculature	5689	PSMB1	OMIM:620038
HP:0003011	Abnormality of the musculature	63908	NAPB	OMIM:620033
HP:0003011	Abnormality of the musculature	191	AHCY	OMIM:613752
HP:0003011	Abnormality of the musculature	8289	ARID1A	OMIM:614607
HP:0003011	Abnormality of the musculature	55107	ANO1	OMIM:620045
HP:0003011	Abnormality of the musculature	6597	SMARCA4	OMIM:614609
HP:0003011	Abnormality of the musculature	9377	COX5A	OMIM:619064
HP:0003011	Abnormality of the musculature	54476	RNF216	ORPHA:1173
HP:0003011	Abnormality of the musculature	4591	TRIM37	OMIM:253250
HP:0003011	Abnormality of the musculature	124512	METTL23	OMIM:615942
HP:0003011	Abnormality of the musculature	10382	TUBB4A	OMIM:612438
HP:0003011	Abnormality of the musculature	1174	AP1S1	OMIM:609313
HP:0003011	Abnormality of the musculature	112755	STX1B	ORPHA:36387
HP:0003011	Abnormality of the musculature	2563	GABRD	ORPHA:36387
HP:0003011	Abnormality of the musculature	2563	GABRD	ORPHA:1606
HP:0003011	Abnormality of the musculature	84059	ADGRV1	ORPHA:36387
HP:0003011	Abnormality of the musculature	5091	PC	OMIM:266150
HP:0003011	Abnormality of the musculature	22859	ADGRL1	OMIM:620065
HP:0003011	Abnormality of the musculature	83475	DOHH	OMIM:620066
HP:0003011	Abnormality of the musculature	6609	SMPD1	OMIM:257200
HP:0003011	Abnormality of the musculature	55027	HEATR3	OMIM:620072
HP:0003011	Abnormality of the musculature	51611	DPH5	OMIM:620070
HP:0003011	Abnormality of the musculature	10430	TMEM147	OMIM:620075
HP:0003011	Abnormality of the musculature	3187	HNRNPH1	OMIM:620083
HP:0003011	Abnormality of the musculature	5915	RARB	ORPHA:2470
HP:0003011	Abnormality of the musculature	84978	FRMD5	OMIM:620094
HP:0003011	Abnormality of the musculature	2702	GJA5	OMIM:612474
HP:0003011	Abnormality of the musculature	2703	GJA8	OMIM:612474
HP:0003011	Abnormality of the musculature	10664	CTCF	OMIM:615502
HP:0003011	Abnormality of the musculature	10664	CTCF	ORPHA:363611
HP:0003011	Abnormality of the musculature	3720	JARID2	OMIM:620098
HP:0003011	Abnormality of the musculature	51621	KLF13	OMIM:612001
HP:0003011	Abnormality of the musculature	5925	RB1	ORPHA:1587
HP:0003011	Abnormality of the musculature	27315	PGAP2	OMIM:614207
HP:0003011	Abnormality of the musculature	84342	COG8	OMIM:611182
HP:0003011	Abnormality of the musculature	79633	FAT4	OMIM:615546
HP:0003011	Abnormality of the musculature	3747	KCNC2	OMIM:619913
HP:0003011	Abnormality of the musculature	490	ATP2B1	OMIM:619910
HP:0003011	Abnormality of the musculature	6925	TCF4	ORPHA:2896
HP:0003011	Abnormality of the musculature	6925	TCF4	OMIM:610954
HP:0003011	Abnormality of the musculature	51124	IER3IP1	OMIM:614231
HP:0003011	Abnormality of the musculature	6519	SLC3A1	ORPHA:163690
HP:0003011	Abnormality of the musculature	6519	SLC3A1	ORPHA:163693
HP:0003011	Abnormality of the musculature	9581	PREPL	ORPHA:163690
HP:0003011	Abnormality of the musculature	9581	PREPL	ORPHA:163693
HP:0003011	Abnormality of the musculature	9581	PREPL	OMIM:616224
HP:0003011	Abnormality of the musculature	6591	SNAI2	ORPHA:2884
HP:0003011	Abnormality of the musculature	3815	KIT	ORPHA:2884
HP:0003011	Abnormality of the musculature	5495	PPM1B	ORPHA:163693
HP:0003011	Abnormality of the musculature	79823	CAMKMT	ORPHA:163693
HP:0003011	Abnormality of the musculature	29929	ALG6	OMIM:603147
HP:0003011	Abnormality of the musculature	29929	ALG6	ORPHA:79320
HP:0003011	Abnormality of the musculature	9320	TRIP12	OMIM:617752
HP:0003011	Abnormality of the musculature	5879	RAC1	OMIM:617751
HP:0003011	Abnormality of the musculature	119559	SFXN4	OMIM:615578
HP:0003011	Abnormality of the musculature	9757	KMT2B	OMIM:619934
HP:0003011	Abnormality of the musculature	8803	SUCLA2	OMIM:612073
HP:0003011	Abnormality of the musculature	10464	PIBF1	OMIM:617767
HP:0003011	Abnormality of the musculature	10464	PIBF1	ORPHA:475
HP:0003011	Abnormality of the musculature	2036	EPB41L1	OMIM:614257
HP:0003011	Abnormality of the musculature	26235	FBXL4	OMIM:615471
HP:0003011	Abnormality of the musculature	23135	KDM6B	OMIM:618505
HP:0003011	Abnormality of the musculature	4897	NRCAM	OMIM:619833
HP:0003011	Abnormality of the musculature	1373	CPS1	ORPHA:147
HP:0003011	Abnormality of the musculature	9578	CDC42BPB	OMIM:619841
HP:0003011	Abnormality of the musculature	65993	MRPS34	OMIM:617664
HP:0003011	Abnormality of the musculature	6487	ST3GAL3	OMIM:615006
HP:0003011	Abnormality of the musculature	55636	CHD7	ORPHA:138
HP:0003011	Abnormality of the musculature	55636	CHD7	ORPHA:478
HP:0003011	Abnormality of the musculature	9723	SEMA3E	ORPHA:138
HP:0003011	Abnormality of the musculature	23321	TRIM2	OMIM:615490
HP:0003011	Abnormality of the musculature	23327	NEDD4L	OMIM:617201
HP:0003011	Abnormality of the musculature	55065	SLC52A1	OMIM:615026
HP:0003011	Abnormality of the musculature	5518	PPP2R1A	OMIM:616362
HP:0003011	Abnormality of the musculature	5518	PPP2R1A	ORPHA:457284
HP:0003011	Abnormality of the musculature	26038	CHD5	OMIM:619873
HP:0003011	Abnormality of the musculature	57680	CHD8	OMIM:615032
HP:0003011	Abnormality of the musculature	51692	CPSF3	OMIM:619876
HP:0003011	Abnormality of the musculature	5590	PRKCZ	ORPHA:1606
HP:0003011	Abnormality of the musculature	23013	SPEN	ORPHA:1606
HP:0003011	Abnormality of the musculature	23013	SPEN	OMIM:619312
HP:0003011	Abnormality of the musculature	8510	MMP23B	ORPHA:1606
HP:0003011	Abnormality of the musculature	7798	LUZP1	ORPHA:1606
HP:0003011	Abnormality of the musculature	10630	PDPN	ORPHA:1606
HP:0003011	Abnormality of the musculature	10277	UBE4B	ORPHA:1606
HP:0003011	Abnormality of the musculature	8514	KCNAB2	ORPHA:1606
HP:0003011	Abnormality of the musculature	54897	CASZ1	ORPHA:1606
HP:0003011	Abnormality of the musculature	56098	PCDHGC4	OMIM:619880
HP:0003011	Abnormality of the musculature	27068	PPA2	OMIM:617222
HP:0003011	Abnormality of the musculature	38	ACAT1	ORPHA:134
HP:0003011	Abnormality of the musculature	205327	C2orf69	OMIM:619423
HP:0003011	Abnormality of the musculature	26173	INTS1	OMIM:618571
HP:0003011	Abnormality of the musculature	1642	DDB1	OMIM:619426
HP:0003011	Abnormality of the musculature	81603	TRIM8	OMIM:619428
HP:0003011	Abnormality of the musculature	1499	CTNNB1	OMIM:615075
HP:0003011	Abnormality of the musculature	56896	DPYSL5	OMIM:619435
HP:0003011	Abnormality of the musculature	6418	SET	OMIM:618106
HP:0003011	Abnormality of the musculature	128869	PIGU	OMIM:618590
HP:0003011	Abnormality of the musculature	4041	LRP5	OMIM:259770
HP:0003011	Abnormality of the musculature	5980	REV3L	ORPHA:570
HP:0003011	Abnormality of the musculature	23129	PLXND1	ORPHA:570
HP:0003011	Abnormality of the musculature	8888	MCM3AP	OMIM:618124
HP:0003011	Abnormality of the musculature	537	ATP6AP1	OMIM:300972
HP:0003011	Abnormality of the musculature	3376	IARS1	ORPHA:541423
HP:0003011	Abnormality of the musculature	3376	IARS1	OMIM:617093
HP:0003011	Abnormality of the musculature	6045	RNF2	OMIM:619460
HP:0003011	Abnormality of the musculature	10526	IPO8	OMIM:619472
HP:0003011	Abnormality of the musculature	8567	MADD	OMIM:619004
HP:0003011	Abnormality of the musculature	374879	ZNF699	OMIM:619488
HP:0003011	Abnormality of the musculature	28952	CCDC22	OMIM:300963
HP:0003011	Abnormality of the musculature	28952	CCDC22	ORPHA:7
HP:0003011	Abnormality of the musculature	10681	GNB5	ORPHA:542306
HP:0003011	Abnormality of the musculature	10681	GNB5	OMIM:617173
HP:0003011	Abnormality of the musculature	10681	GNB5	OMIM:617182
HP:0003011	Abnormality of the musculature	80267	EDEM3	OMIM:619493
HP:0003011	Abnormality of the musculature	63899	NSUN3	OMIM:619012
HP:0003011	Abnormality of the musculature	92344	GORAB	ORPHA:2078
HP:0003011	Abnormality of the musculature	8910	SGCE	OMIM:159900
HP:0003011	Abnormality of the musculature	55294	FBXW7	OMIM:620012
HP:0003011	Abnormality of the musculature	23241	PACS2	OMIM:618067
HP:0003011	Abnormality of the musculature	161742	SPRED1	OMIM:611431
HP:0003011	Abnormality of the musculature	161742	SPRED1	ORPHA:137605
HP:0003011	Abnormality of the musculature	10466	COG5	OMIM:613612
HP:0003011	Abnormality of the musculature	6662	SOX9	OMIM:114290
HP:0003011	Abnormality of the musculature	64207	IRF2BPL	OMIM:618088
HP:0003011	Abnormality of the musculature	23325	WASHC4	OMIM:615817
HP:0003011	Abnormality of the musculature	80856	LNPK	OMIM:618090
HP:0003011	Abnormality of the musculature	6885	MAP3K7	OMIM:157800
HP:0003011	Abnormality of the musculature	1954	MEGF8	OMIM:614976
HP:0003011	Abnormality of the musculature	84300	UQCC2	OMIM:615824
HP:0003011	Abnormality of the musculature	165	AEBP1	ORPHA:536532
HP:0003011	Abnormality of the musculature	5063	PAK3	OMIM:300558
HP:0003011	Abnormality of the musculature	5626	PROP1	ORPHA:226307
HP:0003011	Abnormality of the musculature	89884	LHX4	ORPHA:226307
HP:0003011	Abnormality of the musculature	8022	LHX3	ORPHA:226307
HP:0003011	Abnormality of the musculature	8820	HESX1	ORPHA:226307
HP:0003011	Abnormality of the musculature	8820	HESX1	ORPHA:478
HP:0003011	Abnormality of the musculature	79753	SNIP1	OMIM:614501
HP:0003011	Abnormality of the musculature	3418	IDH2	OMIM:613657
HP:0003011	Abnormality of the musculature	54499	TMCO1	OMIM:213980
HP:0003011	Abnormality of the musculature	50506	DUOX2	ORPHA:226316
HP:0003011	Abnormality of the musculature	50506	DUOX2	ORPHA:95716
HP:0003011	Abnormality of the musculature	1910	EDNRB	OMIM:277580
HP:0003011	Abnormality of the musculature	57393	CLTRN	ORPHA:2116
HP:0003011	Abnormality of the musculature	3242	HPD	ORPHA:2118
HP:0003011	Abnormality of the musculature	55023	PHIP	ORPHA:589905
HP:0003011	Abnormality of the musculature	55023	PHIP	OMIM:617991
HP:0003011	Abnormality of the musculature	6664	SOX11	OMIM:615866
HP:0003011	Abnormality of the musculature	64116	SLC39A8	OMIM:616721
HP:0003011	Abnormality of the musculature	1788	DNMT3A	OMIM:615879
HP:0003011	Abnormality of the musculature	6948	TCN2	OMIM:275350
HP:0003011	Abnormality of the musculature	55593	OTUD5	OMIM:301056
HP:0003011	Abnormality of the musculature	79644	SRD5A3	OMIM:612379
HP:0003011	Abnormality of the musculature	50	ACO2	OMIM:614559
HP:0003011	Abnormality of the musculature	55033	FKBP14	OMIM:614557
HP:0003011	Abnormality of the musculature	63035	BCORL1	OMIM:301029
HP:0003011	Abnormality of the musculature	80746	TSEN2	OMIM:612389
HP:0003011	Abnormality of the musculature	5422	POLA1	OMIM:301030
HP:0003011	Abnormality of the musculature	79576	NKAP	OMIM:301039
HP:0003011	Abnormality of the musculature	83696	TRAPPC9	ORPHA:352530
HP:0003011	Abnormality of the musculature	56479	KCNQ5	OMIM:617601
HP:0003011	Abnormality of the musculature	23152	CIC	OMIM:617600
HP:0003011	Abnormality of the musculature	4329	ALDH6A1	OMIM:614105
HP:0003011	Abnormality of the musculature	60528	ELAC2	OMIM:615440
HP:0003011	Abnormality of the musculature	80210	ARMC9	OMIM:617622
HP:0003011	Abnormality of the musculature	80210	ARMC9	ORPHA:475
HP:0003011	Abnormality of the musculature	5294	PIK3CG	OMIM:619802
HP:0003011	Abnormality of the musculature	51079	NDUFA13	ORPHA:255241
HP:0003011	Abnormality of the musculature	4695	NDUFA2	ORPHA:255241
HP:0003011	Abnormality of the musculature	4716	NDUFB10	ORPHA:2609
HP:0003011	Abnormality of the musculature	284184	NDUFAF8	ORPHA:2609
HP:0003011	Abnormality of the musculature	55863	TMEM126B	ORPHA:2609
HP:0003011	Abnormality of the musculature	4726	NDUFS6	ORPHA:2609
HP:0003011	Abnormality of the musculature	80224	NUBPL	ORPHA:2609
HP:0003011	Abnormality of the musculature	3265	HRAS	ORPHA:2612
HP:0003011	Abnormality of the musculature	124997	WDR81	ORPHA:1766
HP:0003011	Abnormality of the musculature	51761	ATP8A2	ORPHA:1766
HP:0003011	Abnormality of the musculature	767	CA8	ORPHA:1766
HP:0003011	Abnormality of the musculature	7849	PAX8	OMIM:218700
HP:0003011	Abnormality of the musculature	7849	PAX8	ORPHA:95720
HP:0003011	Abnormality of the musculature	7849	PAX8	ORPHA:95713
HP:0003011	Abnormality of the musculature	7849	PAX8	ORPHA:95712
HP:0003011	Abnormality of the musculature	249	ALPL	OMIM:241500
HP:0003011	Abnormality of the musculature	1630	DCC	OMIM:617542
HP:0003011	Abnormality of the musculature	1630	DCC	ORPHA:478
HP:0003011	Abnormality of the musculature	4056	LTC4S	OMIM:614037
HP:0003011	Abnormality of the musculature	27102	EIF2AK1	OMIM:618878
HP:0003011	Abnormality of the musculature	51319	RSRC1	OMIM:618402
HP:0003011	Abnormality of the musculature	4763	NF1	ORPHA:363700
HP:0003011	Abnormality of the musculature	5442	POLRMT	OMIM:619743
HP:0003011	Abnormality of the musculature	4297	KMT2A	ORPHA:319182
HP:0003011	Abnormality of the musculature	4297	KMT2A	OMIM:605130
HP:0003011	Abnormality of the musculature	79600	TCTN1	ORPHA:475
HP:0003011	Abnormality of the musculature	219844	HYLS1	ORPHA:475
HP:0003011	Abnormality of the musculature	219854	TMEM218	ORPHA:475
HP:0003011	Abnormality of the musculature	79867	TCTN2	ORPHA:475
HP:0003011	Abnormality of the musculature	79867	TCTN2	OMIM:616654
HP:0003011	Abnormality of the musculature	80776	B9D2	ORPHA:475
HP:0003011	Abnormality of the musculature	25776	CBY1	ORPHA:475
HP:0003011	Abnormality of the musculature	27077	B9D1	ORPHA:475
HP:0003011	Abnormality of the musculature	27077	B9D1	OMIM:617120
HP:0003011	Abnormality of the musculature	8363	H4C11	OMIM:619759
HP:0003011	Abnormality of the musculature	7531	YWHAE	ORPHA:217385
HP:0003011	Abnormality of the musculature	8364	H4C3	OMIM:619758
HP:0003011	Abnormality of the musculature	8517	IKBKG	ORPHA:464
HP:0003011	Abnormality of the musculature	6942	TCF20	OMIM:618430
HP:0003011	Abnormality of the musculature	9993	DGCR2	OMIM:192430
HP:0003011	Abnormality of the musculature	8220	ESS2	OMIM:192430
HP:0003011	Abnormality of the musculature	8214	DGCR6	OMIM:192430
HP:0003011	Abnormality of the musculature	54487	DGCR8	OMIM:192430
HP:0003011	Abnormality of the musculature	51341	ZBTB7A	OMIM:619769
HP:0003011	Abnormality of the musculature	9338	TCEAL1	OMIM:301094
HP:0003011	Abnormality of the musculature	7030	TFE3	OMIM:301066
HP:0003011	Abnormality of the musculature	23162	MAPK8IP3	OMIM:618443
HP:0003011	Abnormality of the musculature	4123	MAN2C1	OMIM:619775
HP:0003011	Abnormality of the musculature	54941	RNF125	OMIM:616260
HP:0003011	Abnormality of the musculature	23219	FBXO28	OMIM:619777
HP:0003011	Abnormality of the musculature	8295	TRRAP	OMIM:618454
HP:0003011	Abnormality of the musculature	51117	COQ4	OMIM:616276
HP:0003011	Abnormality of the musculature	51013	EXOSC1	OMIM:619304
HP:0003011	Abnormality of the musculature	10371	SEMA3A	ORPHA:478
HP:0003011	Abnormality of the musculature	81848	SPRY4	ORPHA:478
HP:0003011	Abnormality of the musculature	23767	FLRT3	ORPHA:478
HP:0003011	Abnormality of the musculature	128674	PROKR2	ORPHA:478
HP:0003011	Abnormality of the musculature	79625	NDNF	ORPHA:478
HP:0003011	Abnormality of the musculature	389549	FEZF1	ORPHA:478
HP:0003011	Abnormality of the musculature	3730	ANOS1	ORPHA:478
HP:0003011	Abnormality of the musculature	54756	IL17RD	ORPHA:478
HP:0003011	Abnormality of the musculature	285025	CCDC141	ORPHA:478
HP:0003011	Abnormality of the musculature	60675	PROK2	ORPHA:478
HP:0003011	Abnormality of the musculature	1848	DUSP6	ORPHA:478
HP:0003011	Abnormality of the musculature	6870	TACR3	ORPHA:478
HP:0003011	Abnormality of the musculature	55717	WDR11	ORPHA:478
HP:0003011	Abnormality of the musculature	9394	HS6ST1	ORPHA:478
HP:0003011	Abnormality of the musculature	8822	FGF17	ORPHA:478
HP:0003011	Abnormality of the musculature	6492	SIM1	ORPHA:369873
HP:0003011	Abnormality of the musculature	5898	RALA	OMIM:619311
HP:0003011	Abnormality of the musculature	2623	GATA1	OMIM:190685
HP:0003011	Abnormality of the musculature	29998	BICRA	OMIM:619325
HP:0003011	Abnormality of the musculature	23030	KDM4B	OMIM:619320
HP:0003011	Abnormality of the musculature	55503	TRPV6	ORPHA:417
HP:0003011	Abnormality of the musculature	1282	COL4A1	ORPHA:899
HP:0003011	Abnormality of the musculature	10329	RXYLT1	ORPHA:899
HP:0003011	Abnormality of the musculature	8869	ST3GAL5	OMIM:609056
HP:0003011	Abnormality of the musculature	1725	DHPS	OMIM:618480
HP:0003011	Abnormality of the musculature	25929	GEMIN5	OMIM:619333
HP:0003011	Abnormality of the musculature	2560	GABRB1	OMIM:617153
HP:0003011	Abnormality of the musculature	23221	RHOBTB2	OMIM:618004
HP:0003011	Abnormality of the musculature	2530	FUT8	OMIM:618005
HP:0003011	Abnormality of the musculature	54496	PRMT7	OMIM:617157
HP:0003011	Abnormality of the musculature	1108	CHD4	OMIM:617159
HP:0003011	Abnormality of the musculature	9969	MED13	OMIM:618009
HP:0003011	Abnormality of the musculature	6712	SPTBN2	OMIM:600224
HP:0003011	Abnormality of the musculature	8091	HMGA2	ORPHA:94063
HP:0003011	Abnormality of the musculature	1822	ATN1	OMIM:618494
HP:0003011	Abnormality of the musculature	3930	LBR	OMIM:618019
HP:0003011	Abnormality of the musculature	5977	DPF2	OMIM:618027
HP:0003011	Abnormality of the musculature	5457	POU4F1	OMIM:619352
HP:0003011	Abnormality of the musculature	8086	AAAS	ORPHA:869
HP:0003011	Abnormality of the musculature	285590	SH3PXD2B	OMIM:249420
HP:0003011	Abnormality of the musculature	128240	NAXE	OMIM:617186
HP:0003011	Abnormality of the musculature	539	ATP5PO	OMIM:620359
HP:0003011	Abnormality of the musculature	1028	CDKN1C	ORPHA:85173
HP:0003011	Abnormality of the musculature	5426	POLE	ORPHA:85173
HP:0003011	Abnormality of the musculature	55252	ASXL2	OMIM:617190
HP:0003011	Abnormality of the musculature	1984	EIF5A	OMIM:619376
HP:0003011	Abnormality of the musculature	5236	PGM1	OMIM:614921
HP:0003011	Abnormality of the musculature	3295	HSD17B4	OMIM:261515
HP:0003011	Abnormality of the musculature	55074	OXR1	OMIM:213000
HP:0003011	Abnormality of the musculature	27072	VPS41	OMIM:619389
HP:0003011	Abnormality of the musculature	9054	NFS1	OMIM:619386
HP:0003011	Abnormality of the musculature	27183	VPS4A	OMIM:619273
HP:0003011	Abnormality of the musculature	55777	MBD5	ORPHA:228402
HP:0003011	Abnormality of the musculature	9442	MED27	OMIM:619286
HP:0003011	Abnormality of the musculature	51360	MBTPS2	ORPHA:2273
HP:0003011	Abnormality of the musculature	36	ACADSB	OMIM:610006
HP:0003011	Abnormality of the musculature	132158	GLYCTK	OMIM:220120
HP:0003011	Abnormality of the musculature	5826	ABCD4	OMIM:614857
HP:0003011	Abnormality of the musculature	6804	STX1A	ORPHA:904
HP:0003011	Abnormality of the musculature	7461	CLIP2	ORPHA:904
HP:0003011	Abnormality of the musculature	84277	DNAJC30	ORPHA:904
HP:0003011	Abnormality of the musculature	8468	FKBP6	ORPHA:904
HP:0003011	Abnormality of the musculature	5982	RFC2	ORPHA:904
HP:0003011	Abnormality of the musculature	2969	GTF2I	ORPHA:904
HP:0003011	Abnormality of the musculature	3984	LIMK1	ORPHA:904
HP:0003011	Abnormality of the musculature	9569	GTF2IRD1	ORPHA:904
HP:0003011	Abnormality of the musculature	155382	VPS37D	ORPHA:904
HP:0003011	Abnormality of the musculature	155368	METTL27	ORPHA:904
HP:0003011	Abnormality of the musculature	114049	BUD23	ORPHA:904
HP:0003011	Abnormality of the musculature	7458	EIF4H	ORPHA:904
HP:0003011	Abnormality of the musculature	84163	GTF2IRD2	ORPHA:904
HP:0003011	Abnormality of the musculature	9275	BCL7B	ORPHA:904
HP:0003011	Abnormality of the musculature	26608	TBL2	ORPHA:904
HP:0003011	Abnormality of the musculature	653361	NCF1	ORPHA:904
HP:0003011	Abnormality of the musculature	135886	TMEM270	ORPHA:904
HP:0003011	Abnormality of the musculature	9031	BAZ1B	ORPHA:904
HP:0003011	Abnormality of the musculature	93210	PGAP3	OMIM:615716
HP:0003011	Abnormality of the musculature	4952	OCRL	OMIM:309000
HP:0003011	Abnormality of the musculature	728294	D2HGDH	OMIM:600721
HP:0003011	Abnormality of the musculature	471	ATIC	OMIM:608688
HP:0003011	Abnormality of the musculature	9342	SNAP29	OMIM:609528
HP:0003011	Abnormality of the musculature	254065	BRWD3	OMIM:300659
HP:0003011	Abnormality of the musculature	50628	GEMIN4	OMIM:617913
HP:0003011	Abnormality of the musculature	1384	CRAT	OMIM:617917
HP:0003011	Abnormality of the musculature	85021	REPS1	OMIM:617916
HP:0003011	Abnormality of the musculature	7545	ZIC1	OMIM:616602
HP:0003011	Abnormality of the musculature	5859	QARS1	OMIM:615760
HP:0003011	Abnormality of the musculature	79631	EFL1	OMIM:617941
HP:0003011	Abnormality of the musculature	30008	EFEMP2	OMIM:614437
HP:0003011	Abnormality of the musculature	5172	SLC26A4	ORPHA:95720
HP:0003011	Abnormality of the musculature	5172	SLC26A4	ORPHA:95713
HP:0003011	Abnormality of the musculature	51116	MRPS2	OMIM:617950
HP:0003011	Abnormality of the musculature	9512	PMPCB	OMIM:617954
HP:0003011	Abnormality of the musculature	405753	DUOXA2	ORPHA:95716
HP:0003011	Abnormality of the musculature	6528	SLC5A5	ORPHA:95716
HP:0003011	Abnormality of the musculature	7038	TG	ORPHA:95716
HP:0003011	Abnormality of the musculature	7173	TPO	ORPHA:95716
HP:0003011	Abnormality of the musculature	389434	IYD	ORPHA:95716
HP:0003011	Abnormality of the musculature	1482	NKX2-5	ORPHA:95713
HP:0003011	Abnormality of the musculature	1482	NKX2-5	ORPHA:95712
HP:0003011	Abnormality of the musculature	2304	FOXE1	ORPHA:95713
HP:0003011	Abnormality of the musculature	64131	XYLT1	OMIM:615777
HP:0003011	Abnormality of the musculature	9056	SLC7A7	OMIM:222700
HP:0003011	Abnormality of the musculature	1729	DIAPH1	OMIM:616632
HP:0003011	Abnormality of the musculature	27010	TPK1	OMIM:614458
HP:0003011	Abnormality of the musculature	56270	WDR45B	OMIM:617977
HP:0003011	Abnormality of the musculature	23630	KCNE5	ORPHA:86818
HP:0003011	Abnormality of the musculature	54870	QRICH1	OMIM:617982
HP:0003011	Abnormality of the musculature	55704	CCDC88A	OMIM:617507
HP:0003011	Abnormality of the musculature	54676	GTPBP2	OMIM:617988
HP:0003011	Abnormality of the musculature	100506658	OCLN	OMIM:251290
HP:0003011	Abnormality of the musculature	5718	PSMD12	OMIM:617516
HP:0003011	Abnormality of the musculature	51733	UPB1	OMIM:613161
HP:0003011	Abnormality of the musculature	18	ABAT	OMIM:613163
HP:0003011	Abnormality of the musculature	79587	CARS2	OMIM:616672
HP:0003011	Abnormality of the musculature	2108	ETFA	OMIM:231680
HP:0003011	Abnormality of the musculature	2109	ETFB	OMIM:231680
HP:0003011	Abnormality of the musculature	2110	ETFDH	OMIM:231680
HP:0003011	Abnormality of the musculature	23141	ANKLE2	OMIM:616681
HP:0003011	Abnormality of the musculature	6873	TAF2	OMIM:615599
HP:0003011	Abnormality of the musculature	6873	TAF2	ORPHA:397951
HP:0003011	Abnormality of the musculature	7360	UGP2	OMIM:618744
HP:0003011	Abnormality of the musculature	10300	KATNB1	OMIM:616212
HP:0003011	Abnormality of the musculature	7343	UBTF	OMIM:617672
HP:0003011	Abnormality of the musculature	7343	UBTF	ORPHA:500180
HP:0003011	Abnormality of the musculature	10111	RAD50	OMIM:613078
HP:0003011	Abnormality of the musculature	2697	GJA1	ORPHA:2710
HP:0003011	Abnormality of the musculature	2697	GJA1	OMIM:164200
HP:0003011	Abnormality of the musculature	5833	PCYT2	OMIM:618770
HP:0003011	Abnormality of the musculature	5654	HTRA1	ORPHA:199354
HP:0003011	Abnormality of the musculature	5654	HTRA1	OMIM:600142
HP:0003011	Abnormality of the musculature	285362	SUMF1	OMIM:272200
HP:0003011	Abnormality of the musculature	9533	POLR1C	OMIM:616494
HP:0003011	Abnormality of the musculature	79991	STN1	OMIM:617341
HP:0003011	Abnormality of the musculature	9276	COPB2	OMIM:619884
HP:0003011	Abnormality of the musculature	9276	COPB2	OMIM:617800
HP:0003011	Abnormality of the musculature	146227	BEAN1	ORPHA:217012
HP:0003011	Abnormality of the musculature	374969	SVBP	OMIM:618569
HP:0003011	Abnormality of the musculature	79641	ROGDI	ORPHA:1946
HP:0003011	Abnormality of the musculature	79641	ROGDI	OMIM:226750
HP:0003011	Abnormality of the musculature	9091	PIGQ	ORPHA:1934
HP:0003011	Abnormality of the musculature	2917	GRM7	ORPHA:1934
HP:0003011	Abnormality of the musculature	4761	NEUROD2	ORPHA:1934
HP:0003011	Abnormality of the musculature	1203	CLN5	ORPHA:228360
HP:0003011	Abnormality of the musculature	387119	CEP85L	ORPHA:572013
HP:0003011	Abnormality of the musculature	23258	DENND5A	OMIM:617281
HP:0003011	Abnormality of the musculature	2009	EML1	OMIM:600348
HP:0003011	Abnormality of the musculature	9758	FRMPD4	OMIM:300983
HP:0003011	Abnormality of the musculature	8635	RNASET2	OMIM:612951
HP:0003011	Abnormality of the musculature	6697	SPR	OMIM:612716
HP:0003011	Abnormality of the musculature	378884	NHLRC1	ORPHA:501
HP:0003011	Abnormality of the musculature	7957	EPM2A	ORPHA:501
HP:0003011	Abnormality of the musculature	7284	TUFM	OMIM:610678
HP:0003011	Abnormality of the musculature	1315	COPB1	OMIM:619255
HP:0003011	Abnormality of the musculature	727676	SNORD118	ORPHA:542310
HP:0003011	Abnormality of the musculature	727676	SNORD118	OMIM:614561
HP:0003011	Abnormality of the musculature	23236	PLCB1	OMIM:613722
HP:0003011	Abnormality of the musculature	27445	PCLO	OMIM:608027
HP:0003011	Abnormality of the musculature	375	ARF1	OMIM:618185
HP:0003011	Abnormality of the musculature	83700	JAM3	OMIM:613730
HP:0003011	Abnormality of the musculature	51112	TRAPPC12	ORPHA:500144
HP:0003011	Abnormality of the musculature	51506	UFC1	OMIM:618076
HP:0003011	Abnormality of the musculature	9915	ARNT2	OMIM:615926
HP:0003011	Abnormality of the musculature	4718	NDUFC2	OMIM:619170
HP:0003011	Abnormality of the musculature	1351	COX8A	OMIM:619059
HP:0003011	Abnormality of the musculature	8913	CACNA1G	OMIM:618087
HP:0003011	Abnormality of the musculature	1509	CTSD	OMIM:610127
HP:0003011	Abnormality of the musculature	7276	TTR	OMIM:105210
HP:0003011	Abnormality of the musculature	1678	TIMM8A	OMIM:304700
HP:0003011	Abnormality of the musculature	2395	FXN	ORPHA:95
HP:0003011	Abnormality of the musculature	6908	TBP	ORPHA:98759
HP:0003011	Abnormality of the musculature	25793	FBXO7	ORPHA:171695
HP:0003011	Abnormality of the musculature	80207	OPA3	OMIM:258501
HP:0003011	Abnormality of the musculature	7507	XPA	ORPHA:910
HP:0003011	Abnormality of the musculature	7507	XPA	OMIM:278700
HP:0003011	Abnormality of the musculature	7508	XPC	ORPHA:910
HP:0003011	Abnormality of the musculature	1643	DDB2	ORPHA:910
HP:0003011	Abnormality of the musculature	2891	GRIA2	OMIM:618917
HP:0003011	Abnormality of the musculature	6314	ATXN7	OMIM:164500
HP:0003011	Abnormality of the musculature	2058	EPRS1	OMIM:617951
HP:0003011	Abnormality of the musculature	84693	MCEE	OMIM:251120
HP:0003011	Abnormality of the musculature	81689	ISCA1	OMIM:617613
HP:0003011	Abnormality of the musculature	7305	TYROBP	ORPHA:2770
HP:0003011	Abnormality of the musculature	7305	TYROBP	OMIM:221770
HP:0003011	Abnormality of the musculature	22934	RPIA	OMIM:608611
HP:0003011	Abnormality of the musculature	23209	MLC1	OMIM:604004
HP:0003011	Abnormality of the musculature	6785	ELOVL4	OMIM:133190
HP:0003011	Abnormality of the musculature	84628	NTNG2	OMIM:618718
HP:0003011	Abnormality of the musculature	9439	MED23	OMIM:614249
HP:0003011	Abnormality of the musculature	8884	SLC5A6	OMIM:618973
HP:0003011	Abnormality of the musculature	80169	CTC1	OMIM:612199
HP:0003011	Abnormality of the musculature	10844	TUBGCP2	OMIM:618737
HP:0003011	Abnormality of the musculature	55753	OGDHL	OMIM:619701
HP:0003011	Abnormality of the musculature	3119	HLA-DQB1	OMIM:126200
HP:0003011	Abnormality of the musculature	5133	PDCD1	OMIM:126200
HP:0003011	Abnormality of the musculature	55182	RNF220	OMIM:619688
HP:0003011	Abnormality of the musculature	3897	L1CAM	ORPHA:306617
HP:0003011	Abnormality of the musculature	3897	L1CAM	OMIM:303350
HP:0003011	Abnormality of the musculature	3897	L1CAM	OMIM:307000
HP:0003011	Abnormality of the musculature	3897	L1CAM	ORPHA:2466
HP:0003011	Abnormality of the musculature	64834	ELOVL1	OMIM:618527
HP:0003011	Abnormality of the musculature	118813	ZFYVE27	OMIM:610244
HP:0003011	Abnormality of the musculature	26154	ABCA12	OMIM:601277
HP:0003011	Abnormality of the musculature	776	CACNA1D	ORPHA:369929
HP:0003011	Abnormality of the musculature	9907	AP5Z1	OMIM:613647
HP:0003011	Abnormality of the musculature	113612	CYP2U1	OMIM:615030
HP:0003011	Abnormality of the musculature	113612	CYP2U1	ORPHA:320411
HP:0003011	Abnormality of the musculature	57498	KIDINS220	OMIM:617296
HP:0003011	Abnormality of the musculature	55656	INTS8	OMIM:618572
HP:0003011	Abnormality of the musculature	137492	VPS37A	OMIM:614898
HP:0003011	Abnormality of the musculature	8050	PDHX	ORPHA:255182
HP:0003011	Abnormality of the musculature	1615	DARS1	OMIM:615281
HP:0003011	Abnormality of the musculature	55250	ELP2	OMIM:617270
HP:0003011	Abnormality of the musculature	120	ADD3	OMIM:617008
HP:0003011	Abnormality of the musculature	11113	CIT	OMIM:617090
HP:0003011	Abnormality of the musculature	4702	NDUFA8	OMIM:619272
HP:0003011	Abnormality of the musculature	3763	KCNJ6	ORPHA:435628
HP:0003011	Abnormality of the musculature	3763	KCNJ6	OMIM:614098
HP:0003011	Abnormality of the musculature	6535	SLC6A8	OMIM:300352
HP:0003011	Abnormality of the musculature	6535	SLC6A8	ORPHA:52503
HP:0003011	Abnormality of the musculature	23394	ADNP	ORPHA:404448
HP:0003011	Abnormality of the musculature	5723	PSPH	OMIM:614023
HP:0003011	Abnormality of the musculature	5723	PSPH	ORPHA:79350
HP:0003011	Abnormality of the musculature	55532	SLC30A10	ORPHA:309854
HP:0003011	Abnormality of the musculature	55627	SMPD4	OMIM:618622
HP:0003011	Abnormality of the musculature	3008	H1-4	OMIM:617537
HP:0003011	Abnormality of the musculature	1119	CHKA	OMIM:620023
HP:0003011	Abnormality of the musculature	8496	PPFIBP1	OMIM:620024
HP:0003011	Abnormality of the musculature	51	ACOX1	ORPHA:2971
HP:0003011	Abnormality of the musculature	51	ACOX1	OMIM:264470
HP:0003011	Abnormality of the musculature	57176	VARS2	OMIM:615917
HP:0003011	Abnormality of the musculature	4072	EPCAM	ORPHA:144
HP:0003011	Abnormality of the musculature	4292	MLH1	ORPHA:144
HP:0003011	Abnormality of the musculature	5395	PMS2	ORPHA:144
HP:0003011	Abnormality of the musculature	27030	MLH3	ORPHA:144
HP:0003011	Abnormality of the musculature	22909	FAN1	ORPHA:144
HP:0003011	Abnormality of the musculature	7048	TGFBR2	ORPHA:144
HP:0003011	Abnormality of the musculature	3845	KRAS	ORPHA:144
HP:0003011	Abnormality of the musculature	3845	KRAS	ORPHA:2396
HP:0003011	Abnormality of the musculature	2956	MSH6	ORPHA:144
HP:0003011	Abnormality of the musculature	5378	PMS1	ORPHA:144
HP:0003011	Abnormality of the musculature	4436	MSH2	ORPHA:144
HP:0003011	Abnormality of the musculature	4552	MTRR	OMIM:236270
HP:0003011	Abnormality of the musculature	4535	MT-ND1	ORPHA:255210
HP:0003011	Abnormality of the musculature	4536	MT-ND2	ORPHA:255210
HP:0003011	Abnormality of the musculature	4537	MT-ND3	ORPHA:255210
HP:0003011	Abnormality of the musculature	4538	MT-ND4	ORPHA:255210
HP:0003011	Abnormality of the musculature	4567	MT-TL1	ORPHA:255210
HP:0003011	Abnormality of the musculature	4578	MT-TW	ORPHA:255210
HP:0003011	Abnormality of the musculature	4577	MT-TV	ORPHA:255210
HP:0003011	Abnormality of the musculature	4540	MT-ND5	ORPHA:255210
HP:0003011	Abnormality of the musculature	4541	MT-ND6	ORPHA:255210
HP:0003011	Abnormality of the musculature	4566	MT-TK	ORPHA:255210
HP:0003011	Abnormality of the musculature	6536	SLC6A9	OMIM:617301
HP:0003011	Abnormality of the musculature	10528	NOP56	OMIM:614153
HP:0003011	Abnormality of the musculature	64218	SEMA4A	ORPHA:440437
HP:0003011	Abnormality of the musculature	6224	RPS20	ORPHA:440437
HP:0003011	Abnormality of the musculature	1841	DTYMK	OMIM:619847
HP:0003011	Abnormality of the musculature	166378	AFG2A	OMIM:616577
HP:0003011	Abnormality of the musculature	100996717	NOTCH2NLC	ORPHA:2289
HP:0003011	Abnormality of the musculature	80055	PGAP1	OMIM:615802
HP:0003011	Abnormality of the musculature	5610	EIF2AK2	OMIM:618877
HP:0003011	Abnormality of the musculature	5610	EIF2AK2	ORPHA:256
HP:0003011	Abnormality of the musculature	55163	PNPO	ORPHA:79096
HP:0003011	Abnormality of the musculature	55163	PNPO	OMIM:610090
HP:0003011	Abnormality of the musculature	1410	CRYAB	OMIM:613869
HP:0003011	Abnormality of the musculature	271	AMPD2	OMIM:615809
HP:0003011	Abnormality of the musculature	271	AMPD2	ORPHA:401805
HP:0003011	Abnormality of the musculature	271	AMPD2	OMIM:615686
HP:0003011	Abnormality of the musculature	51324	SPG21	OMIM:248900
HP:0003011	Abnormality of the musculature	284403	WDR62	OMIM:604317
HP:0003011	Abnormality of the musculature	9289	ADGRG1	OMIM:606854
HP:0003011	Abnormality of the musculature	2892	GRIA3	OMIM:300699
HP:0003011	Abnormality of the musculature	9692	PRORP	OMIM:619737
HP:0003011	Abnormality of the musculature	10352	WARS2	OMIM:619738
HP:0003011	Abnormality of the musculature	10352	WARS2	OMIM:617710
HP:0003011	Abnormality of the musculature	3064	HTT	OMIM:617435
HP:0003011	Abnormality of the musculature	340024	SLC6A19	OMIM:234500
HP:0003011	Abnormality of the musculature	55157	DARS2	ORPHA:137898
HP:0003011	Abnormality of the musculature	2770	GNAI1	OMIM:619854
HP:0003011	Abnormality of the musculature	2260	FGFR1	ORPHA:2396
HP:0003011	Abnormality of the musculature	114034	TOE1	OMIM:614969
HP:0003011	Abnormality of the musculature	114034	TOE1	ORPHA:284339
HP:0003011	Abnormality of the musculature	2074	ERCC6	OMIM:278800
HP:0003011	Abnormality of the musculature	2074	ERCC6	ORPHA:1466
HP:0003011	Abnormality of the musculature	7274	TTPA	ORPHA:96
HP:0003011	Abnormality of the musculature	283989	TSEN54	ORPHA:166063
HP:0003011	Abnormality of the musculature	283989	TSEN54	OMIM:225753
HP:0003011	Abnormality of the musculature	22872	SEC31A	OMIM:618651
HP:0003011	Abnormality of the musculature	5297	PI4KA	OMIM:619621
HP:0003011	Abnormality of the musculature	25930	PTPN23	OMIM:618890
HP:0003011	Abnormality of the musculature	23036	ZNF292	OMIM:619188
HP:0003011	Abnormality of the musculature	2903	GRIN2A	ORPHA:289266
HP:0003011	Abnormality of the musculature	6663	SOX10	OMIM:611584
HP:0003011	Abnormality of the musculature	23230	VPS13A	ORPHA:2388
HP:0003011	Abnormality of the musculature	4338	MOCS2	OMIM:252160
HP:0003011	Abnormality of the musculature	9152	SLC6A5	OMIM:614618
HP:0003011	Abnormality of the musculature	9152	SLC6A5	ORPHA:3197
HP:0003011	Abnormality of the musculature	2743	GLRB	OMIM:614619
HP:0003011	Abnormality of the musculature	2743	GLRB	ORPHA:3197
HP:0003011	Abnormality of the musculature	9653	HS2ST1	OMIM:619194
HP:0003011	Abnormality of the musculature	1267	CNP	OMIM:619071
HP:0003011	Abnormality of the musculature	1727	CYB5R3	OMIM:250800
HP:0003011	Abnormality of the musculature	1727	CYB5R3	ORPHA:621
HP:0003011	Abnormality of the musculature	7157	TP53	ORPHA:2807
HP:0003011	Abnormality of the musculature	10717	AP4B1	OMIM:614066
HP:0003011	Abnormality of the musculature	149371	EXOC8	OMIM:619076
HP:0003011	Abnormality of the musculature	11154	AP4S1	OMIM:614067
HP:0003011	Abnormality of the musculature	2629	GBA1	ORPHA:85212
HP:0003011	Abnormality of the musculature	2629	GBA1	ORPHA:2072
HP:0003011	Abnormality of the musculature	2629	GBA1	OMIM:230900
HP:0003011	Abnormality of the musculature	116115	ZNF526	OMIM:619877
HP:0003011	Abnormality of the musculature	148789	B3GALNT2	ORPHA:588
HP:0003011	Abnormality of the musculature	55719	SLF2	OMIM:620184
HP:0003011	Abnormality of the musculature	79718	TBL1XR1	OMIM:602342
HP:0003011	Abnormality of the musculature	3800	KIF5C	OMIM:615282
HP:0003011	Abnormality of the musculature	2232	FDXR	ORPHA:543470
HP:0003011	Abnormality of the musculature	26227	PHGDH	OMIM:601815
HP:0003011	Abnormality of the musculature	26227	PHGDH	ORPHA:79351
HP:0003011	Abnormality of the musculature	4285	MIPEP	OMIM:617228
HP:0003011	Abnormality of the musculature	10297	APC2	OMIM:618677
HP:0003011	Abnormality of the musculature	9440	MED17	OMIM:613668
HP:0003011	Abnormality of the musculature	79971	WLS	OMIM:619648
HP:0003011	Abnormality of the musculature	55164	SHQ1	ORPHA:256
HP:0003011	Abnormality of the musculature	55275	VPS53	OMIM:615851
HP:0003011	Abnormality of the musculature	25836	NIPBL	OMIM:122470
HP:0003011	Abnormality of the musculature	25836	NIPBL	ORPHA:199
HP:0003011	Abnormality of the musculature	5663	PSEN1	ORPHA:1020
HP:0003011	Abnormality of the musculature	5664	PSEN2	ORPHA:1020
HP:0003011	Abnormality of the musculature	10452	TOMM40	ORPHA:1020
HP:0003011	Abnormality of the musculature	351	APP	ORPHA:1020
HP:0003011	Abnormality of the musculature	54209	TREM2	ORPHA:1020
HP:0003011	Abnormality of the musculature	10347	ABCA7	ORPHA:1020
HP:0003011	Abnormality of the musculature	6653	SORL1	ORPHA:1020
HP:0003011	Abnormality of the musculature	10195	ALG3	ORPHA:79321
HP:0003011	Abnormality of the musculature	10195	ALG3	OMIM:601110
HP:0003011	Abnormality of the musculature	51750	RTEL1	ORPHA:3322
HP:0003011	Abnormality of the musculature	65057	ACD	ORPHA:3322
HP:0003011	Abnormality of the musculature	5073	PARN	ORPHA:3322
HP:0003011	Abnormality of the musculature	26277	TINF2	ORPHA:3322
HP:0003011	Abnormality of the musculature	26277	TINF2	OMIM:268130
HP:0003011	Abnormality of the musculature	1736	DKC1	ORPHA:3322
HP:0003011	Abnormality of the musculature	6509	SLC1A4	ORPHA:447997
HP:0003011	Abnormality of the musculature	9526	MPDU1	ORPHA:79323
HP:0003011	Abnormality of the musculature	9526	MPDU1	OMIM:609180
HP:0003011	Abnormality of the musculature	3339	HSPG2	ORPHA:800
HP:0003011	Abnormality of the musculature	64324	NSD1	ORPHA:3447
HP:0003011	Abnormality of the musculature	51645	PPIL1	OMIM:619301
HP:0003011	Abnormality of the musculature	51362	CDC40	OMIM:619302
HP:0003011	Abnormality of the musculature	3658	IREB2	OMIM:618451
HP:0003011	Abnormality of the musculature	9445	ITM2B	OMIM:176500
HP:0003011	Abnormality of the musculature	10535	RNASEH2A	ORPHA:51
HP:0003011	Abnormality of the musculature	25939	SAMHD1	ORPHA:51
HP:0003011	Abnormality of the musculature	79621	RNASEH2B	ORPHA:51
HP:0003011	Abnormality of the musculature	11277	TREX1	ORPHA:51
HP:0003011	Abnormality of the musculature	100147744	RNU7-1	ORPHA:51
HP:0003011	Abnormality of the musculature	100147744	RNU7-1	OMIM:619487
HP:0003011	Abnormality of the musculature	134353	LSM11	ORPHA:51
HP:0003011	Abnormality of the musculature	4001	LMNB1	ORPHA:99027
HP:0003011	Abnormality of the musculature	6513	SLC2A1	ORPHA:71277
HP:0003011	Abnormality of the musculature	6513	SLC2A1	OMIM:608885
HP:0003011	Abnormality of the musculature	6513	SLC2A1	ORPHA:168577
HP:0003011	Abnormality of the musculature	84706	GPT2	OMIM:616281
HP:0003011	Abnormality of the musculature	84894	LINGO1	OMIM:618103
HP:0003011	Abnormality of the musculature	10785	WDR4	OMIM:618346
HP:0003011	Abnormality of the musculature	10785	WDR4	ORPHA:2065
HP:0003011	Abnormality of the musculature	30000	TNPO2	OMIM:619556
HP:0003011	Abnormality of the musculature	54892	NCAPG2	OMIM:618460
HP:0003011	Abnormality of the musculature	8573	CASK	OMIM:300749
HP:0003011	Abnormality of the musculature	23314	SATB2	ORPHA:251028
HP:0003011	Abnormality of the musculature	85476	GFM1	OMIM:609060
HP:0003011	Abnormality of the musculature	112476	PRRT2	ORPHA:306
HP:0003011	Abnormality of the musculature	3785	KCNQ2	ORPHA:306
HP:0003011	Abnormality of the musculature	3786	KCNQ3	ORPHA:306
HP:0003011	Abnormality of the musculature	5309	PITX3	OMIM:610623
HP:0003011	Abnormality of the musculature	81570	CLPB	ORPHA:445038
HP:0003011	Abnormality of the musculature	4967	OGDH	ORPHA:31
HP:0003011	Abnormality of the musculature	23114	NFASC	OMIM:618356
HP:0003011	Abnormality of the musculature	6647	SOD1	OMIM:618598
HP:0003011	Abnormality of the musculature	1806	DPYD	OMIM:274270
HP:0003011	Abnormality of the musculature	1806	DPYD	ORPHA:1675
HP:0003011	Abnormality of the musculature	3736	KCNA1	ORPHA:37612
HP:0003011	Abnormality of the musculature	5053	PAH	ORPHA:79254
HP:0003011	Abnormality of the musculature	2067	ERCC1	OMIM:610758
HP:0003011	Abnormality of the musculature	2067	ERCC1	ORPHA:1466
HP:0003011	Abnormality of the musculature	79068	FTO	OMIM:612938
HP:0003011	Abnormality of the musculature	4784	NFIX	OMIM:602535
HP:0003011	Abnormality of the musculature	10588	MTHFS	OMIM:618367
HP:0003011	Abnormality of the musculature	63925	ZNF335	OMIM:615095
HP:0003011	Abnormality of the musculature	25915	NDUFAF3	OMIM:618240
HP:0003011	Abnormality of the musculature	25915	NDUFAF3	ORPHA:70474
HP:0003011	Abnormality of the musculature	2073	ERCC5	ORPHA:1466
HP:0003011	Abnormality of the musculature	23229	ARHGEF9	ORPHA:163985
HP:0003011	Abnormality of the musculature	23229	ARHGEF9	OMIM:300607
HP:0003011	Abnormality of the musculature	2138	EYA1	ORPHA:2792
HP:0003011	Abnormality of the musculature	5075	PAX1	ORPHA:2792
HP:0003011	Abnormality of the musculature	1737	DLAT	ORPHA:79244
HP:0003011	Abnormality of the musculature	91647	ATPAF2	OMIM:604273
HP:0003011	Abnormality of the musculature	5805	PTS	ORPHA:13
HP:0003011	Abnormality of the musculature	5805	PTS	OMIM:261640
HP:0003011	Abnormality of the musculature	538	ATP7A	ORPHA:565
HP:0003011	Abnormality of the musculature	538	ATP7A	OMIM:309400
HP:0003011	Abnormality of the musculature	27031	NPHP3	OMIM:267010
HP:0003011	Abnormality of the musculature	5903	RANBP2	ORPHA:88619
HP:0003011	Abnormality of the musculature	5903	RANBP2	OMIM:608033
HP:0003011	Abnormality of the musculature	2741	GLRA1	ORPHA:3197
HP:0003011	Abnormality of the musculature	2741	GLRA1	OMIM:149400
HP:0003011	Abnormality of the musculature	84896	ATAD1	ORPHA:3197
HP:0003011	Abnormality of the musculature	84896	ATAD1	OMIM:618011
HP:0003011	Abnormality of the musculature	9451	EIF2AK3	OMIM:226980
HP:0003011	Abnormality of the musculature	8802	SUCLG1	ORPHA:17
HP:0003011	Abnormality of the musculature	26040	SETBP1	OMIM:616078
HP:0003011	Abnormality of the musculature	26040	SETBP1	ORPHA:798
HP:0003011	Abnormality of the musculature	3188	HNRNPH2	OMIM:300986
HP:0003011	Abnormality of the musculature	54664	TMEM106B	OMIM:617964
HP:0003011	Abnormality of the musculature	64374	SIL1	ORPHA:559
HP:0003011	Abnormality of the musculature	51763	INPP5K	ORPHA:559
HP:0003011	Abnormality of the musculature	5873	RAB27A	ORPHA:79477
HP:0003011	Abnormality of the musculature	23476	BRD4	ORPHA:199
HP:0003011	Abnormality of the musculature	9126	SMC3	ORPHA:199
HP:0003011	Abnormality of the musculature	5885	RAD21	ORPHA:199
HP:0003011	Abnormality of the musculature	11212	PLPBP	OMIM:617290
HP:0003011	Abnormality of the musculature	6197	RPS6KA3	ORPHA:192
HP:0003011	Abnormality of the musculature	55697	VAC14	OMIM:617054
HP:0003011	Abnormality of the musculature	51501	HIKESHI	OMIM:616881
HP:0003011	Abnormality of the musculature	6711	SPTBN1	OMIM:619475
HP:0003011	Abnormality of the musculature	58494	JAM2	OMIM:618824
HP:0003011	Abnormality of the musculature	9927	MFN2	OMIM:609260
HP:0003011	Abnormality of the musculature	9894	TELO2	ORPHA:488642
HP:0003011	Abnormality of the musculature	25914	RTTN	ORPHA:468631
HP:0003011	Abnormality of the musculature	8405	SPOP	OMIM:618828
HP:0003011	Abnormality of the musculature	1528	CYB5A	ORPHA:621
HP:0003011	Abnormality of the musculature	1130	LYST	ORPHA:352723
HP:0003011	Abnormality of the musculature	9997	SCO2	ORPHA:70474
HP:0003011	Abnormality of the musculature	1718	DHCR24	ORPHA:35107
HP:0003011	Abnormality of the musculature	2571	GAD1	OMIM:619124
HP:0003011	Abnormality of the musculature	440138	ALG11	ORPHA:280071
HP:0003011	Abnormality of the musculature	57688	ZSWIM6	OMIM:617865
HP:0003011	Abnormality of the musculature	2893	GRIA4	OMIM:617864
HP:0003011	Abnormality of the musculature	4976	OPA1	OMIM:616896
HP:0003011	Abnormality of the musculature	3832	KIF11	ORPHA:2526
HP:0003011	Abnormality of the musculature	4190	MDH1	OMIM:618959
HP:0003011	Abnormality of the musculature	57570	TRMT5	OMIM:616539
HP:0003011	Abnormality of the musculature	2593	GAMT	OMIM:612736
HP:0003011	Abnormality of the musculature	3516	RBPJ	ORPHA:974
HP:0003011	Abnormality of the musculature	4851	NOTCH1	ORPHA:974
HP:0003011	Abnormality of the musculature	57572	DOCK6	ORPHA:974
HP:0003011	Abnormality of the musculature	285203	EOGT	ORPHA:974
HP:0003011	Abnormality of the musculature	54567	DLL4	ORPHA:974
HP:0003011	Abnormality of the musculature	113246	C12orf57	OMIM:218340
HP:0003011	Abnormality of the musculature	55691	FRMD4A	ORPHA:466688
HP:0003011	Abnormality of the musculature	54888	NSUN2	OMIM:611091
HP:0003011	Abnormality of the musculature	85378	TUBGCP6	ORPHA:2518
HP:0003011	Abnormality of the musculature	27229	TUBGCP4	ORPHA:2518
HP:0003011	Abnormality of the musculature	10733	PLK4	ORPHA:2518
HP:0003011	Abnormality of the musculature	4693	NDP	ORPHA:649
HP:0003011	Abnormality of the musculature	23529	CLCF1	ORPHA:1545
HP:0003011	Abnormality of the musculature	9244	CRLF1	ORPHA:1545
HP:0003011	Abnormality of the musculature	9562	MINPP1	ORPHA:284339
HP:0003011	Abnormality of the musculature	3735	KARS1	OMIM:619147
HP:0003011	Abnormality of the musculature	5860	QDPR	OMIM:261630
HP:0003011	Abnormality of the musculature	51075	TMX2	OMIM:618730
HP:0003011	Abnormality of the musculature	1496	CTNNA2	OMIM:618174
HP:0003011	Abnormality of the musculature	35	ACADS	ORPHA:26792
HP:0003011	Abnormality of the musculature	221927	BRAT1	OMIM:618056
HP:0003011	Abnormality of the musculature	221927	BRAT1	OMIM:614498
HP:0003011	Abnormality of the musculature	54820	NDE1	OMIM:614019
HP:0003011	Abnormality of the musculature	51002	TPRKB	ORPHA:2065
HP:0003011	Abnormality of the musculature	84942	WDR73	ORPHA:2065
HP:0003011	Abnormality of the musculature	55644	OSGEP	ORPHA:2065
HP:0003011	Abnormality of the musculature	57122	NUP107	ORPHA:2065
HP:0003011	Abnormality of the musculature	55746	NUP133	ORPHA:2065
HP:0003011	Abnormality of the musculature	112858	TP53RK	ORPHA:2065
HP:0003011	Abnormality of the musculature	8270	LAGE3	ORPHA:2065
HP:0003011	Abnormality of the musculature	8942	KYNU	ORPHA:79155
HP:0003011	Abnormality of the musculature	140803	TRPM6	OMIM:602014
HP:0003011	Abnormality of the musculature	6899	TBX1	OMIM:188400
HP:0003011	Abnormality of the musculature	6899	TBX1	ORPHA:567
HP:0003011	Abnormality of the musculature	6557	SLC12A1	OMIM:601678
HP:0003011	Abnormality of the musculature	3758	KCNJ1	OMIM:241200
HP:0003011	Abnormality of the musculature	10312	TCIRG1	OMIM:259700
HP:0003011	Abnormality of the musculature	5741	PTH	OMIM:146200
HP:0003011	Abnormality of the musculature	2625	GATA3	OMIM:146255
HP:0003011	Abnormality of the musculature	10686	CLDN16	OMIM:248250
HP:0003011	Abnormality of the musculature	6559	SLC12A3	OMIM:263800
HP:0003011	Abnormality of the musculature	1312	COMT	ORPHA:567
HP:0003011	Abnormality of the musculature	221037	JMJD1C	ORPHA:567
HP:0003011	Abnormality of the musculature	2812	GP1BB	ORPHA:567
HP:0003011	Abnormality of the musculature	6239	RREB1	ORPHA:567
HP:0003011	Abnormality of the musculature	7290	HIRA	ORPHA:567
HP:0003011	Abnormality of the musculature	9632	SEC24C	ORPHA:567
HP:0003011	Abnormality of the musculature	7353	UFD1	ORPHA:567
HP:0003011	Abnormality of the musculature	421	ARVCF	ORPHA:567
HP:0003011	Abnormality of the musculature	58528	RRAGD	OMIM:620152
HP:0003011	Abnormality of the musculature	10755	GIPC1	OMIM:618940
HP:0003011	Abnormality of the musculature	9782	MATR3	OMIM:606070
HP:0003011	Abnormality of the musculature	9782	MATR3	ORPHA:600
HP:0003011	Abnormality of the musculature	113278	SLC52A3	OMIM:211500
HP:0003011	Abnormality of the musculature	113278	SLC52A3	OMIM:211530
HP:0003011	Abnormality of the musculature	23435	TARDBP	ORPHA:275872
HP:0003011	Abnormality of the musculature	54822	TRPM7	OMIM:105500
HP:0003011	Abnormality of the musculature	2934	GSN	OMIM:105120
HP:0003011	Abnormality of the musculature	84065	TMEM222	OMIM:619470
HP:0003011	Abnormality of the musculature	11340	EXOSC8	OMIM:616081
HP:0003011	Abnormality of the musculature	51399	TRAPPC4	OMIM:618741
HP:0003011	Abnormality of the musculature	84879	MFSD2A	OMIM:616486
HP:0003011	Abnormality of the musculature	4337	MOCS1	OMIM:252150
HP:0003011	Abnormality of the musculature	60558	GUF1	OMIM:617065
HP:0003011	Abnormality of the musculature	51601	LIPT1	OMIM:616299
HP:0003011	Abnormality of the musculature	549	AUH	ORPHA:67046
HP:0003011	Abnormality of the musculature	387787	LIPT2	OMIM:617668
HP:0003011	Abnormality of the musculature	4010	LMX1B	ORPHA:495818
HP:0003011	Abnormality of the musculature	6812	STXBP1	ORPHA:495818
HP:0003011	Abnormality of the musculature	10157	AASS	ORPHA:2203
HP:0003011	Abnormality of the musculature	498	ATP5F1A	OMIM:620358
HP:0003011	Abnormality of the musculature	79944	L2HGDH	OMIM:236792
HP:0003011	Abnormality of the musculature	79944	L2HGDH	ORPHA:79314
HP:0003011	Abnormality of the musculature	2192	FBLN1	ORPHA:404451
HP:0003011	Abnormality of the musculature	2937	GSS	OMIM:266130
HP:0003011	Abnormality of the musculature	348	APOE	OMIM:607822
HP:0003011	Abnormality of the musculature	7143	TNR	OMIM:619653
HP:0003011	Abnormality of the musculature	3899	AFF3	OMIM:619297
HP:0003011	Abnormality of the musculature	29960	MRM2	OMIM:618567
HP:0003011	Abnormality of the musculature	124454	EARS2	OMIM:614924
HP:0003011	Abnormality of the musculature	27247	NFU1	OMIM:605711
HP:0003011	Abnormality of the musculature	58497	PRUNE1	OMIM:617481
HP:0003011	Abnormality of the musculature	58497	PRUNE1	ORPHA:544469
HP:0003011	Abnormality of the musculature	221692	PHACTR1	OMIM:618298
HP:0003011	Abnormality of the musculature	56978	PRDM8	ORPHA:324290
HP:0003011	Abnormality of the musculature	2137	EXTL3	ORPHA:508533
HP:0003011	Abnormality of the musculature	8036	SHOC2	OMIM:607721
HP:0003011	Abnormality of the musculature	10617	STAMBP	OMIM:614261
HP:0003011	Abnormality of the musculature	104	ADARB1	OMIM:618862
HP:0003011	Abnormality of the musculature	23019	CNOT1	OMIM:618500
HP:0003011	Abnormality of the musculature	23019	CNOT1	OMIM:619033
HP:0003011	Abnormality of the musculature	28981	IFT81	OMIM:617895
HP:0003011	Abnormality of the musculature	50651	SLC45A1	OMIM:617532
HP:0003011	Abnormality of the musculature	51569	UFM1	OMIM:617899
HP:0003011	Abnormality of the musculature	1024	CDK8	OMIM:618748
HP:0003011	Abnormality of the musculature	6659	SOX4	OMIM:618506
HP:0003011	Abnormality of the musculature	51126	NAA20	OMIM:619717
HP:0003011	Abnormality of the musculature	10059	DNM1L	OMIM:614388
HP:0003011	Abnormality of the musculature	60684	TRAPPC11	OMIM:615356
HP:0003011	Abnormality of the musculature	4860	PNP	OMIM:613179
HP:0003011	Abnormality of the musculature	6228	RPS23	OMIM:617412
HP:0003011	Abnormality of the musculature	9254	CACNA2D2	OMIM:618501
HP:0003011	Abnormality of the musculature	23417	MLYCD	OMIM:248360
HP:0003011	Abnormality of the musculature	2720	GLB1	OMIM:230600
HP:0003011	Abnormality of the musculature	84334	COA8	ORPHA:436271
HP:0003011	Abnormality of the musculature	5830	PEX5	OMIM:214110
HP:0003011	Abnormality of the musculature	64220	STRA6	OMIM:601186
HP:0003011	Abnormality of the musculature	2731	GLDC	OMIM:605899
HP:0003011	Abnormality of the musculature	275	AMT	OMIM:605899
HP:0003011	Abnormality of the musculature	79848	CSPP1	ORPHA:397715
HP:0003011	Abnormality of the musculature	9786	KIAA0586	ORPHA:397715
HP:0003011	Abnormality of the musculature	9786	KIAA0586	OMIM:616546
HP:0003011	Abnormality of the musculature	197131	UBR1	OMIM:243800
HP:0003011	Abnormality of the musculature	116931	MED12L	OMIM:618872
HP:0003011	Abnormality of the musculature	80816	ASXL3	OMIM:615485
HP:0003011	Abnormality of the musculature	10026	PIGK	OMIM:618879
HP:0003011	Abnormality of the musculature	1785	DNM2	OMIM:615368
HP:0003011	Abnormality of the musculature	1785	DNM2	OMIM:160150
HP:0003011	Abnormality of the musculature	1785	DNM2	ORPHA:169189
HP:0003011	Abnormality of the musculature	2782	GNB1	ORPHA:488613
HP:0003011	Abnormality of the musculature	526	ATP6V1B2	OMIM:616455
HP:0003011	Abnormality of the musculature	55690	PACS1	OMIM:615009
HP:0003011	Abnormality of the musculature	55904	KMT2E	OMIM:618512
HP:0003011	Abnormality of the musculature	120227	CYP2R1	OMIM:600081
HP:0003011	Abnormality of the musculature	120227	CYP2R1	ORPHA:289157
HP:0003011	Abnormality of the musculature	79158	GNPTAB	OMIM:252500
HP:0003011	Abnormality of the musculature	5189	PEX1	OMIM:214100
HP:0003011	Abnormality of the musculature	5189	PEX1	OMIM:601539
HP:0003011	Abnormality of the musculature	55650	PIGV	OMIM:239300
HP:0003011	Abnormality of the musculature	23474	ETHE1	ORPHA:51188
HP:0003011	Abnormality of the musculature	410	ARSA	ORPHA:309271
HP:0003011	Abnormality of the musculature	410	ARSA	ORPHA:309263
HP:0003011	Abnormality of the musculature	410	ARSA	OMIM:250100
HP:0003011	Abnormality of the musculature	410	ARSA	ORPHA:309256
HP:0003011	Abnormality of the musculature	5660	PSAP	ORPHA:309271
HP:0003011	Abnormality of the musculature	5660	PSAP	ORPHA:309263
HP:0003011	Abnormality of the musculature	5660	PSAP	ORPHA:309256
HP:0003011	Abnormality of the musculature	10559	SLC35A1	OMIM:603585
HP:0003011	Abnormality of the musculature	79868	ALG13	ORPHA:324422
HP:0003011	Abnormality of the musculature	55687	TRMU	OMIM:613070
HP:0003011	Abnormality of the musculature	55687	TRMU	ORPHA:254864
HP:0003011	Abnormality of the musculature	288	ANK3	OMIM:615493
HP:0003011	Abnormality of the musculature	2590	GALNT2	OMIM:618885
HP:0003011	Abnormality of the musculature	818	CAMK2G	OMIM:618522
HP:0003011	Abnormality of the musculature	55154	MSTO1	OMIM:617675
HP:0003011	Abnormality of the musculature	55154	MSTO1	ORPHA:502423
HP:0003011	Abnormality of the musculature	1759	DNM1	OMIM:616346
HP:0003011	Abnormality of the musculature	1759	DNM1	ORPHA:442835
HP:0003011	Abnormality of the musculature	1759	DNM1	OMIM:620352
HP:0003011	Abnormality of the musculature	7436	VLDLR	OMIM:224050
HP:0003011	Abnormality of the musculature	83480	PUS3	ORPHA:488627
HP:0003011	Abnormality of the musculature	157680	VPS13B	OMIM:216550
HP:0003011	Abnormality of the musculature	4620	MYH2	OMIM:605637
HP:0003011	Abnormality of the musculature	6872	TAF1	ORPHA:480907
HP:0003011	Abnormality of the musculature	6872	TAF1	OMIM:300966
HP:0003011	Abnormality of the musculature	79147	FKRP	ORPHA:34515
HP:0003011	Abnormality of the musculature	79147	FKRP	ORPHA:370980
HP:0003011	Abnormality of the musculature	8726	EED	OMIM:617561
HP:0003011	Abnormality of the musculature	1303	COL12A1	OMIM:616471
HP:0003011	Abnormality of the musculature	1303	COL12A1	ORPHA:75840
HP:0003011	Abnormality of the musculature	54968	TMEM70	OMIM:614052
HP:0003011	Abnormality of the musculature	4330	MN1	OMIM:618774
HP:0003011	Abnormality of the musculature	1594	CYP27B1	OMIM:264700
HP:0003011	Abnormality of the musculature	1594	CYP27B1	ORPHA:289157
HP:0003011	Abnormality of the musculature	88	ACTN2	OMIM:618654
HP:0003011	Abnormality of the musculature	5528	PPP2R5D	OMIM:616355
HP:0003011	Abnormality of the musculature	5528	PPP2R5D	ORPHA:457279
HP:0003011	Abnormality of the musculature	39	ACAT2	OMIM:614055
HP:0003011	Abnormality of the musculature	388962	BOLA3	OMIM:614299
HP:0003011	Abnormality of the musculature	2783	GNB2	OMIM:619503
HP:0003011	Abnormality of the musculature	79731	NARS2	OMIM:616239
HP:0003011	Abnormality of the musculature	3737	KCNA2	ORPHA:442835
HP:0003011	Abnormality of the musculature	8120	AP3B2	ORPHA:442835
HP:0003011	Abnormality of the musculature	8120	AP3B2	OMIM:617276
HP:0003011	Abnormality of the musculature	523	ATP6V1A	ORPHA:442835
HP:0003011	Abnormality of the musculature	523	ATP6V1A	OMIM:617403
HP:0003011	Abnormality of the musculature	10991	SLC38A3	ORPHA:442835
HP:0003011	Abnormality of the musculature	51343	FZR1	ORPHA:442835
HP:0003011	Abnormality of the musculature	22906	TRAK1	ORPHA:442835
HP:0003011	Abnormality of the musculature	2566	GABRG2	ORPHA:442835
HP:0003011	Abnormality of the musculature	1917	EEF1A2	ORPHA:442835
HP:0003011	Abnormality of the musculature	2561	GABRB2	ORPHA:442835
HP:0003011	Abnormality of the musculature	8831	SYNGAP1	ORPHA:442835
HP:0003011	Abnormality of the musculature	7532	YWHAG	ORPHA:442835
HP:0003011	Abnormality of the musculature	79876	UBA5	ORPHA:442835
HP:0003011	Abnormality of the musculature	6328	SCN3A	ORPHA:442835
HP:0003011	Abnormality of the musculature	6328	SCN3A	OMIM:617938
HP:0003011	Abnormality of the musculature	2558	GABRA5	ORPHA:442835
HP:0003011	Abnormality of the musculature	2558	GABRA5	OMIM:618559
HP:0003011	Abnormality of the musculature	781	CACNA2D1	ORPHA:442835
HP:0003011	Abnormality of the musculature	2906	GRIN2D	ORPHA:442835
HP:0003011	Abnormality of the musculature	116150	NUS1	ORPHA:442835
HP:0003011	Abnormality of the musculature	116150	NUS1	OMIM:617082
HP:0003011	Abnormality of the musculature	10659	CELF2	ORPHA:442835
HP:0003011	Abnormality of the musculature	774	CACNA1B	ORPHA:442835
HP:0003011	Abnormality of the musculature	1213	CLTC	ORPHA:442835
HP:0003011	Abnormality of the musculature	51741	WWOX	ORPHA:442835
HP:0003011	Abnormality of the musculature	23334	SZT2	ORPHA:442835
HP:0003011	Abnormality of the musculature	51412	ACTL6B	ORPHA:442835
HP:0003011	Abnormality of the musculature	348980	HCN1	ORPHA:442835
HP:0003011	Abnormality of the musculature	6506	SLC1A2	ORPHA:442835
HP:0003011	Abnormality of the musculature	6506	SLC1A2	OMIM:617105
HP:0003011	Abnormality of the musculature	8867	SYNJ1	ORPHA:442835
HP:0003011	Abnormality of the musculature	2258	FGF13	ORPHA:442835
HP:0003011	Abnormality of the musculature	477	ATP1A2	ORPHA:442835
HP:0003011	Abnormality of the musculature	3745	KCNB1	ORPHA:442835
HP:0003011	Abnormality of the musculature	284111	SLC13A5	ORPHA:442835
HP:0003011	Abnormality of the musculature	25977	NECAP1	ORPHA:442835
HP:0003011	Abnormality of the musculature	25977	NECAP1	OMIM:615833
HP:0003011	Abnormality of the musculature	16	AARS1	ORPHA:442835
HP:0003011	Abnormality of the musculature	6334	SCN8A	ORPHA:442835
HP:0003011	Abnormality of the musculature	6334	SCN8A	OMIM:614306
HP:0003011	Abnormality of the musculature	22866	CNKSR2	ORPHA:442835
HP:0003011	Abnormality of the musculature	9568	GABBR2	ORPHA:442835
HP:0003011	Abnormality of the musculature	9568	GABBR2	OMIM:617904
HP:0003011	Abnormality of the musculature	2555	GABRA2	ORPHA:442835
HP:0003011	Abnormality of the musculature	2555	GABRA2	OMIM:618557
HP:0003011	Abnormality of the musculature	55152	DALRD3	ORPHA:442835
HP:0003011	Abnormality of the musculature	55152	DALRD3	OMIM:618910
HP:0003011	Abnormality of the musculature	773	CACNA1A	ORPHA:442835
HP:0003011	Abnormality of the musculature	773	CACNA1A	OMIM:617106
HP:0003011	Abnormality of the musculature	26999	CYFIP2	ORPHA:442835
HP:0003011	Abnormality of the musculature	26999	CYFIP2	OMIM:618008
HP:0003011	Abnormality of the musculature	4915	NTRK2	ORPHA:442835
HP:0003011	Abnormality of the musculature	4915	NTRK2	OMIM:617830
HP:0003011	Abnormality of the musculature	25973	PARS2	ORPHA:442835
HP:0003011	Abnormality of the musculature	23097	CDK19	ORPHA:442835
HP:0003011	Abnormality of the musculature	64801	ARV1	ORPHA:442835
HP:0003011	Abnormality of the musculature	79947	DHDDS	ORPHA:442835
HP:0003011	Abnormality of the musculature	79947	DHDDS	OMIM:617836
HP:0003011	Abnormality of the musculature	2257	FGF12	ORPHA:442835
HP:0003011	Abnormality of the musculature	5530	PPP3CA	ORPHA:442835
HP:0003011	Abnormality of the musculature	478	ATP1A3	ORPHA:442835
HP:0003011	Abnormality of the musculature	478	ATP1A3	ORPHA:71517
HP:0003011	Abnormality of the musculature	3782	KCNN3	OMIM:618658
HP:0003011	Abnormality of the musculature	6905	TBCE	OMIM:617207
HP:0003011	Abnormality of the musculature	6905	TBCE	ORPHA:496756
HP:0003011	Abnormality of the musculature	284439	SLC25A42	OMIM:618416
HP:0003011	Abnormality of the musculature	8642	DCHS1	OMIM:601390
HP:0003011	Abnormality of the musculature	4247	MGAT2	OMIM:212066
HP:0003011	Abnormality of the musculature	4247	MGAT2	ORPHA:79329
HP:0003011	Abnormality of the musculature	8241	RBM10	OMIM:311900
HP:0003011	Abnormality of the musculature	8241	RBM10	ORPHA:2886
HP:0003011	Abnormality of the musculature	1947	EFNB1	OMIM:304110
HP:0003011	Abnormality of the musculature	11285	B4GALT7	OMIM:130070
HP:0003011	Abnormality of the musculature	1187	CLCNKA	OMIM:613090
HP:0003011	Abnormality of the musculature	1188	CLCNKB	OMIM:613090
HP:0003011	Abnormality of the musculature	253738	EBF3	OMIM:617330
HP:0003011	Abnormality of the musculature	1186	CLCN7	OMIM:618541
HP:0003011	Abnormality of the musculature	339983	NAT8L	OMIM:614063
HP:0003011	Abnormality of the musculature	8260	NAA10	OMIM:309800
HP:0003011	Abnormality of the musculature	8260	NAA10	ORPHA:276432
HP:0003011	Abnormality of the musculature	54880	BCOR	OMIM:309800
HP:0003011	Abnormality of the musculature	23512	SUZ12	OMIM:618786
HP:0003011	Abnormality of the musculature	29081	METTL5	OMIM:618665
HP:0003011	Abnormality of the musculature	8879	SGPL1	OMIM:617575
HP:0003011	Abnormality of the musculature	51604	PIGT	OMIM:615398
HP:0003011	Abnormality of the musculature	84504	NKX6-2	ORPHA:527497
HP:0003011	Abnormality of the musculature	23126	POGZ	OMIM:616364
HP:0003011	Abnormality of the musculature	55773	TBC1D23	OMIM:617695
HP:0003011	Abnormality of the musculature	8558	CDK10	OMIM:617694
HP:0003011	Abnormality of the musculature	51633	OTUD6B	OMIM:617452
HP:0003011	Abnormality of the musculature	51633	OTUD6B	ORPHA:505237
HP:0003011	Abnormality of the musculature	92609	TIMM50	OMIM:617698
HP:0003011	Abnormality of the musculature	8021	NUP214	OMIM:618426
HP:0003011	Abnormality of the musculature	2643	GCH1	OMIM:233910
HP:0003011	Abnormality of the musculature	6638	SNRPN	OMIM:105830
HP:0003011	Abnormality of the musculature	7337	UBE3A	OMIM:105830
HP:0003011	Abnormality of the musculature	166785	MMAA	OMIM:251100
HP:0003011	Abnormality of the musculature	5551	PRF1	OMIM:603553
HP:0003011	Abnormality of the musculature	8818	DPM2	OMIM:615042
HP:0003011	Abnormality of the musculature	8818	DPM2	ORPHA:329178
HP:0003011	Abnormality of the musculature	122961	ISCA2	OMIM:616370
HP:0003011	Abnormality of the musculature	8733	GPAA1	ORPHA:529665
HP:0003011	Abnormality of the musculature	5621	PRNP	ORPHA:157941
HP:0003011	Abnormality of the musculature	7358	UGDH	OMIM:618792
HP:0003011	Abnormality of the musculature	59336	PRDM13	OMIM:619761
HP:0003011	Abnormality of the musculature	200424	TET3	OMIM:618798
HP:0003011	Abnormality of the musculature	9772	TMEM94	OMIM:618316
HP:0003011	Abnormality of the musculature	124583	CANT1	OMIM:251450
HP:0003011	Abnormality of the musculature	51567	TDP2	ORPHA:404493
HP:0003011	Abnormality of the musculature	51567	TDP2	OMIM:616949
HP:0003011	Abnormality of the musculature	57104	PNPLA2	OMIM:610717
HP:0003011	Abnormality of the musculature	57104	PNPLA2	ORPHA:98908
HP:0003011	Abnormality of the musculature	2271	FH	OMIM:606812
HP:0003011	Abnormality of the musculature	23556	PIGN	OMIM:614080
HP:0003011	Abnormality of the musculature	4351	MPI	OMIM:602579
HP:0003011	Abnormality of the musculature	3835	KIF22	OMIM:603546
HP:0003011	Abnormality of the musculature	23007	PLCH1	OMIM:619895
HP:0003011	Abnormality of the musculature	6324	SCN1B	OMIM:617350
HP:0003011	Abnormality of the musculature	9922	IQSEC1	OMIM:618687
HP:0003011	Abnormality of the musculature	2562	GABRB3	OMIM:617113
HP:0003011	Abnormality of the musculature	125988	MICOS13	OMIM:618329
HP:0003011	Abnormality of the musculature	4099	MAG	ORPHA:459056
HP:0003011	Abnormality of the musculature	64919	BCL11B	OMIM:617237
HP:0003011	Abnormality of the musculature	7994	KAT6A	OMIM:616268
HP:0003011	Abnormality of the musculature	9725	TMEM63A	OMIM:618688
HP:0003011	Abnormality of the musculature	404672	GTF2H5	ORPHA:33364
HP:0003011	Abnormality of the musculature	833	CARS1	ORPHA:33364
HP:0003011	Abnormality of the musculature	2068	ERCC2	ORPHA:33364
HP:0003011	Abnormality of the musculature	7737	RNF113A	ORPHA:33364
HP:0003011	Abnormality of the musculature	136647	MPLKIP	ORPHA:33364
HP:0003011	Abnormality of the musculature	6897	TARS1	ORPHA:33364
HP:0003011	Abnormality of the musculature	2071	ERCC3	ORPHA:33364
HP:0003011	Abnormality of the musculature	2961	GTF2E2	ORPHA:33364
HP:0003011	Abnormality of the musculature	79087	ALG12	ORPHA:79324
HP:0003011	Abnormality of the musculature	79087	ALG12	OMIM:607143
HP:0003011	Abnormality of the musculature	57192	MCOLN1	OMIM:252650
HP:0003011	Abnormality of the musculature	1967	EIF2B1	OMIM:603896
HP:0003011	Abnormality of the musculature	54903	MKS1	OMIM:617121
HP:0003011	Abnormality of the musculature	7040	TGFB1	OMIM:618213
HP:0003011	Abnormality of the musculature	4633	MYL2	OMIM:619424
HP:0003011	Abnormality of the musculature	1892	ECHS1	OMIM:616277
HP:0003011	Abnormality of the musculature	5587	PRKD1	OMIM:617364
HP:0003011	Abnormality of the musculature	27429	HTRA2	OMIM:617248
HP:0003011	Abnormality of the musculature	7227	TRPS1	OMIM:190350
HP:0003011	Abnormality of the musculature	5081	PAX7	OMIM:618578
HP:0003011	Abnormality of the musculature	389827	MYMK	OMIM:254940
HP:0003011	Abnormality of the musculature	7080	NKX2-1	OMIM:610978
HP:0003011	Abnormality of the musculature	2879	GPX4	OMIM:250220
HP:0003011	Abnormality of the musculature	2879	GPX4	ORPHA:93317
HP:0003011	Abnormality of the musculature	9949	AMMECR1	OMIM:300990
HP:0003011	Abnormality of the musculature	291	SLC25A4	ORPHA:254892
HP:0003011	Abnormality of the musculature	291	SLC25A4	OMIM:617184
HP:0003011	Abnormality of the musculature	5428	POLG	ORPHA:254892
HP:0003011	Abnormality of the musculature	5428	POLG	ORPHA:94125
HP:0003011	Abnormality of the musculature	5428	POLG	OMIM:203700
HP:0003011	Abnormality of the musculature	5428	POLG	OMIM:613662
HP:0003011	Abnormality of the musculature	56652	TWNK	ORPHA:254892
HP:0003011	Abnormality of the musculature	11232	POLG2	ORPHA:254892
HP:0003011	Abnormality of the musculature	11232	POLG2	OMIM:610131
HP:0003011	Abnormality of the musculature	50484	RRM2B	ORPHA:254892
HP:0003011	Abnormality of the musculature	50484	RRM2B	OMIM:612075
HP:0003011	Abnormality of the musculature	9361	LONP1	OMIM:600373
HP:0003011	Abnormality of the musculature	57190	SELENON	ORPHA:324604
HP:0003011	Abnormality of the musculature	57190	SELENON	ORPHA:97244
HP:0003011	Abnormality of the musculature	57190	SELENON	OMIM:602771
HP:0003011	Abnormality of the musculature	4625	MYH7	ORPHA:324604
HP:0003011	Abnormality of the musculature	7273	TTN	ORPHA:324604
HP:0003011	Abnormality of the musculature	7273	TTN	ORPHA:169186
HP:0003011	Abnormality of the musculature	9488	PIGB	OMIM:618580
HP:0003011	Abnormality of the musculature	58	ACTA1	ORPHA:97244
HP:0003011	Abnormality of the musculature	58	ACTA1	ORPHA:171439
HP:0003011	Abnormality of the musculature	6134	RPL10	OMIM:300998
HP:0003011	Abnormality of the musculature	374291	NDUFS7	OMIM:618224
HP:0003011	Abnormality of the musculature	2775	GNAO1	OMIM:617493
HP:0003011	Abnormality of the musculature	1173	AP2M1	OMIM:618587
HP:0003011	Abnormality of the musculature	8506	CNTNAP1	OMIM:616286
HP:0003011	Abnormality of the musculature	54517	PUS7	OMIM:618342
HP:0003011	Abnormality of the musculature	57102	C12orf4	OMIM:618221
HP:0003011	Abnormality of the musculature	56203	LMOD3	OMIM:616165
HP:0003011	Abnormality of the musculature	10564	ARFGEF2	OMIM:608097
HP:0003011	Abnormality of the musculature	4719	NDUFS1	OMIM:618226
HP:0003011	Abnormality of the musculature	4720	NDUFS2	OMIM:618228
HP:0003011	Abnormality of the musculature	100151683	RNU4ATAC	ORPHA:353298
HP:0003011	Abnormality of the musculature	100151683	RNU4ATAC	OMIM:616651
HP:0003011	Abnormality of the musculature	4729	NDUFV2	OMIM:618229
HP:0003011	Abnormality of the musculature	56623	INPP5E	OMIM:213300
HP:0003011	Abnormality of the musculature	9256	TSPOAP1	ORPHA:101150
HP:0003011	Abnormality of the musculature	7054	TH	ORPHA:101150
HP:0003011	Abnormality of the musculature	50814	NSDHL	ORPHA:251383
HP:0003011	Abnormality of the musculature	50814	NSDHL	OMIM:300831
HP:0003011	Abnormality of the musculature	10102	TSFM	OMIM:610505
HP:0003011	Abnormality of the musculature	3708	ITPR1	ORPHA:208513
HP:0003011	Abnormality of the musculature	3708	ITPR1	OMIM:206700
HP:0003011	Abnormality of the musculature	7681	MKRN3	OMIM:176270
HP:0003011	Abnormality of the musculature	3653	IPW	OMIM:176270
HP:0003011	Abnormality of the musculature	54551	MAGEL2	OMIM:176270
HP:0003011	Abnormality of the musculature	791114	PWRN1	OMIM:176270
HP:0003011	Abnormality of the musculature	100033413	SNORD116-1	OMIM:176270
HP:0003011	Abnormality of the musculature	8924	HERC2	OMIM:176270
HP:0003011	Abnormality of the musculature	8924	HERC2	OMIM:615516
HP:0003011	Abnormality of the musculature	145624	PWAR1	OMIM:176270
HP:0003011	Abnormality of the musculature	23742	NPAP1	OMIM:176270
HP:0003011	Abnormality of the musculature	338433	SNORD115-1	OMIM:176270
HP:0003011	Abnormality of the musculature	56945	MRPS22	OMIM:611719
HP:0003011	Abnormality of the musculature	1120	CHKB	OMIM:602541
HP:0003011	Abnormality of the musculature	55869	HDAC8	OMIM:300882
HP:0003011	Abnormality of the musculature	56521	DNAJC12	OMIM:617384
HP:0003011	Abnormality of the musculature	126328	NDUFA11	OMIM:618236
HP:0003011	Abnormality of the musculature	10978	CLP1	ORPHA:411493
HP:0003011	Abnormality of the musculature	57520	HECW2	OMIM:617268
HP:0003011	Abnormality of the musculature	4722	NDUFS3	OMIM:618230
HP:0003011	Abnormality of the musculature	63895	PIEZO2	OMIM:617146
HP:0003011	Abnormality of the musculature	63895	PIEZO2	OMIM:248700
HP:0003011	Abnormality of the musculature	29078	NDUFAF4	OMIM:618237
HP:0003011	Abnormality of the musculature	1654	DDX3X	ORPHA:457260
HP:0003011	Abnormality of the musculature	79133	NDUFAF5	OMIM:618238
HP:0003011	Abnormality of the musculature	1760	DMPK	OMIM:160900
HP:0003011	Abnormality of the musculature	7846	TUBA1A	OMIM:611603
HP:0003011	Abnormality of the musculature	10166	SLC25A15	ORPHA:415
HP:0003011	Abnormality of the musculature	3417	IDH1	ORPHA:99646
HP:0003011	Abnormality of the musculature	3192	HNRNPU	OMIM:617391
HP:0003011	Abnormality of the musculature	55967	NDUFA12	OMIM:618244
HP:0003011	Abnormality of the musculature	7084	TK2	ORPHA:254875
HP:0003011	Abnormality of the musculature	7084	TK2	OMIM:609560
HP:0003011	Abnormality of the musculature	28982	FLVCR1	ORPHA:88628
HP:0003011	Abnormality of the musculature	56915	EXOSC5	OMIM:619576
HP:0003011	Abnormality of the musculature	51132	RLIM	OMIM:300978
HP:0003011	Abnormality of the musculature	4125	MAN2B1	OMIM:248500
HP:0003011	Abnormality of the musculature	23345	SYNE1	OMIM:618484
HP:0003011	Abnormality of the musculature	11274	USP18	OMIM:617397
HP:0003011	Abnormality of the musculature	7169	TPM2	OMIM:609285
HP:0003011	Abnormality of the musculature	7169	TPM2	OMIM:108120
HP:0003011	Abnormality of the musculature	7169	TPM2	ORPHA:171881
HP:0003011	Abnormality of the musculature	7169	TPM2	ORPHA:171439
HP:0003011	Abnormality of the musculature	201163	FLCN	OMIM:610883
HP:0003011	Abnormality of the musculature	2019	EN1	OMIM:619218
HP:0003011	Abnormality of the musculature	23203	PMPCA	OMIM:213200
HP:0003011	Abnormality of the musculature	4864	NPC1	OMIM:257220
HP:0003011	Abnormality of the musculature	55750	AGK	OMIM:212350
HP:0003011	Abnormality of the musculature	6821	SUOX	OMIM:272300
HP:0003011	Abnormality of the musculature	22827	PUF60	ORPHA:508488
HP:0003011	Abnormality of the musculature	2898	GRIK2	OMIM:619580
HP:0003011	Abnormality of the musculature	80324	PUS1	OMIM:600462
HP:0003011	Abnormality of the musculature	1781	DYNC1I2	OMIM:618492
HP:0003011	Abnormality of the musculature	112812	FDX2	OMIM:251900
HP:0003011	Abnormality of the musculature	56776	FMN2	OMIM:616193
HP:0003011	Abnormality of the musculature	23111	SPART	ORPHA:101000
HP:0003011	Abnormality of the musculature	7809	BSND	OMIM:602522
HP:0003011	Abnormality of the musculature	1277	COL1A1	OMIM:130060
HP:0003011	Abnormality of the musculature	1277	COL1A1	OMIM:619115
HP:0003011	Abnormality of the musculature	26276	VPS33B	OMIM:208085
HP:0003011	Abnormality of the musculature	4556	MT-TE	ORPHA:254864
HP:0003011	Abnormality of the musculature	6390	SDHB	OMIM:619224
HP:0003011	Abnormality of the musculature	6390	SDHB	ORPHA:3208
HP:0003011	Abnormality of the musculature	63931	MRPS14	OMIM:618378
HP:0003011	Abnormality of the musculature	3977	LIFR	OMIM:601559
HP:0003011	Abnormality of the musculature	54681	P4HTM	OMIM:618493
HP:0003011	Abnormality of the musculature	4714	NDUFB8	OMIM:618252
HP:0003011	Abnormality of the musculature	5283	PIGH	OMIM:618010
HP:0003011	Abnormality of the musculature	7403	KDM6A	OMIM:300867
HP:0003011	Abnormality of the musculature	4126	MANBA	OMIM:248510
HP:0003011	Abnormality of the musculature	4700	NDUFA6	OMIM:618253
HP:0003011	Abnormality of the musculature	51305	KCNK9	ORPHA:166108
HP:0003011	Abnormality of the musculature	1280	COL2A1	OMIM:183900
HP:0003011	Abnormality of the musculature	2218	FKTN	ORPHA:370980
HP:0003011	Abnormality of the musculature	2218	FKTN	OMIM:253800
HP:0003011	Abnormality of the musculature	729920	CRPPA	ORPHA:370980
HP:0003011	Abnormality of the musculature	729920	CRPPA	OMIM:614643
HP:0003011	Abnormality of the musculature	10585	POMT1	ORPHA:370980
HP:0003011	Abnormality of the musculature	4990	SIX6	OMIM:206900
HP:0003011	Abnormality of the musculature	6657	SOX2	OMIM:206900
HP:0003011	Abnormality of the musculature	4548	MTR	OMIM:250940
HP:0003011	Abnormality of the musculature	9791	PTDSS1	OMIM:151050
HP:0003011	Abnormality of the musculature	8943	AP3D1	OMIM:617050
HP:0003011	Abnormality of the musculature	23322	RPGRIP1L	OMIM:619113
HP:0003011	Abnormality of the musculature	23322	RPGRIP1L	OMIM:611560
HP:0003011	Abnormality of the musculature	139411	PTCHD1	OMIM:300830
HP:0003011	Abnormality of the musculature	65250	CPLANE1	OMIM:277170
HP:0003011	Abnormality of the musculature	65250	CPLANE1	ORPHA:2754
HP:0003011	Abnormality of the musculature	51095	TRNT1	OMIM:616084
HP:0003011	Abnormality of the musculature	64849	SLC13A3	OMIM:618384
HP:0003011	Abnormality of the musculature	348180	CTU2	OMIM:618142
HP:0003011	Abnormality of the musculature	94005	PIGS	OMIM:618143
HP:0003011	Abnormality of the musculature	57514	ARHGAP31	OMIM:100300
HP:0003011	Abnormality of the musculature	4361	MRE11	ORPHA:251347
HP:0003011	Abnormality of the musculature	788	SLC25A20	OMIM:212138
HP:0003011	Abnormality of the musculature	4983	OPHN1	ORPHA:137831
HP:0003011	Abnormality of the musculature	4983	OPHN1	OMIM:300486
HP:0003011	Abnormality of the musculature	9968	MED12	OMIM:309520
HP:0003011	Abnormality of the musculature	31	ACACA	OMIM:613933
HP:0003011	Abnormality of the musculature	113189	CHST14	OMIM:601776
HP:0003011	Abnormality of the musculature	5290	PIK3CA	OMIM:602501
HP:0003011	Abnormality of the musculature	3636	INPPL1	OMIM:258480
HP:0003011	Abnormality of the musculature	2077	ERF	OMIM:617180
HP:0003011	Abnormality of the musculature	90522	YIF1B	OMIM:619125
HP:0003011	Abnormality of the musculature	4841	NONO	OMIM:300967
HP:0003011	Abnormality of the musculature	4841	NONO	ORPHA:466791
HP:0003011	Abnormality of the musculature	5058	PAK1	OMIM:618158
HP:0003011	Abnormality of the musculature	8239	USP9X	OMIM:300968
HP:0003011	Abnormality of the musculature	10651	MTX2	OMIM:619127
HP:0003011	Abnormality of the musculature	1278	COL1A2	OMIM:619120
HP:0003011	Abnormality of the musculature	1278	COL1A2	OMIM:617821
HP:0003011	Abnormality of the musculature	9326	ZNHIT3	OMIM:260565
HP:0003011	Abnormality of the musculature	22983	MAST1	OMIM:618273
HP:0003011	Abnormality of the musculature	28514	DLL1	ORPHA:280195
HP:0003011	Abnormality of the musculature	2253	FGF8	ORPHA:280195
HP:0003011	Abnormality of the musculature	6496	SIX3	ORPHA:280195
HP:0003011	Abnormality of the musculature	6496	SIX3	OMIM:157170
HP:0003011	Abnormality of the musculature	7050	TGIF1	ORPHA:280195
HP:0003011	Abnormality of the musculature	4838	NODAL	ORPHA:280195
HP:0003011	Abnormality of the musculature	6469	SHH	ORPHA:280195
HP:0003011	Abnormality of the musculature	7546	ZIC2	ORPHA:280195
HP:0003011	Abnormality of the musculature	6491	STIL	ORPHA:280195
HP:0003011	Abnormality of the musculature	2619	GAS1	ORPHA:280195
HP:0003011	Abnormality of the musculature	84976	DISP1	ORPHA:280195
HP:0003011	Abnormality of the musculature	2736	GLI2	ORPHA:280195
HP:0003011	Abnormality of the musculature	8928	FOXH1	ORPHA:280195
HP:0003011	Abnormality of the musculature	5727	PTCH1	ORPHA:280195
HP:0003011	Abnormality of the musculature	50937	CDON	ORPHA:280195
HP:0003011	Abnormality of the musculature	79143	MBOAT7	OMIM:617188
HP:0003011	Abnormality of the musculature	23096	IQSEC2	OMIM:309530
HP:0003011	Abnormality of the musculature	57038	RARS2	OMIM:611523
HP:0003011	Abnormality of the musculature	5625	PRODH	OMIM:239500
HP:0003011	Abnormality of the musculature	673	BRAF	OMIM:613706
HP:0003011	Abnormality of the musculature	673	BRAF	OMIM:115150
HP:0003011	Abnormality of the musculature	126792	B3GALT6	OMIM:271640
HP:0003011	Abnormality of the musculature	201595	STT3B	ORPHA:370924
HP:0003011	Abnormality of the musculature	403	ARL3	OMIM:618161
HP:0003011	Abnormality of the musculature	1650	DDOST	ORPHA:300536
HP:0003011	Abnormality of the musculature	6748	SSR4	ORPHA:370927
HP:0003011	Abnormality of the musculature	6748	SSR4	OMIM:300934
HP:0003011	Abnormality of the musculature	84295	PHF6	OMIM:301900
HP:0003011	Abnormality of the musculature	9895	TECPR2	ORPHA:320385
HP:0003011	Abnormality of the musculature	2193	FARSA	OMIM:619013
HP:0003011	Abnormality of the musculature	89970	RSPRY1	ORPHA:457395
HP:0003011	Abnormality of the musculature	89970	RSPRY1	OMIM:616723
HP:0003011	Abnormality of the musculature	4668	NAGA	OMIM:609241
HP:0003011	Abnormality of the musculature	2733	GLE1	OMIM:611890
HP:0003011	Abnormality of the musculature	54187	NANS	OMIM:610442
HP:0003011	Abnormality of the musculature	55005	RMND1	OMIM:614922
HP:0003011	Abnormality of the musculature	284058	KANSL1	OMIM:610443
HP:0003011	Abnormality of the musculature	10020	GNE	ORPHA:3166
HP:0003011	Abnormality of the musculature	1719	DHFR	OMIM:613839
HP:0003011	Abnormality of the musculature	84153	RNASEH2C	OMIM:610329
HP:0003011	Abnormality of the musculature	8139	GAN	ORPHA:643
HP:0003011	Abnormality of the musculature	1376	CPT2	ORPHA:228308
HP:0003011	Abnormality of the musculature	11011	TLK2	OMIM:618050
HP:0003011	Abnormality of the musculature	3030	HADHA	ORPHA:5
HP:0003011	Abnormality of the musculature	2316	FLNA	ORPHA:555877
HP:0003011	Abnormality of the musculature	11342	RNF13	ORPHA:544503
HP:0003011	Abnormality of the musculature	25886	POC1A	OMIM:614813
HP:0003011	Abnormality of the musculature	871	SERPINH1	OMIM:613848
HP:0003011	Abnormality of the musculature	9325	TRIP4	ORPHA:486815
HP:0003011	Abnormality of the musculature	9325	TRIP4	OMIM:616866
HP:0003011	Abnormality of the musculature	2760	GM2A	OMIM:272750
HP:0003011	Abnormality of the musculature	168667	BMPER	OMIM:608022
HP:0003011	Abnormality of the musculature	6584	SLC22A5	OMIM:212140
HP:0003011	Abnormality of the musculature	9131	AIFM1	ORPHA:238329
HP:0003011	Abnormality of the musculature	10682	EBP	ORPHA:401973
HP:0003011	Abnormality of the musculature	6095	RORA	OMIM:618060
HP:0003011	Abnormality of the musculature	8450	CUL4B	OMIM:300354
HP:0003011	Abnormality of the musculature	158	ADSL	OMIM:103050
HP:0003011	Abnormality of the musculature	158	ADSL	ORPHA:46
HP:0003011	Abnormality of the musculature	324	APC	ORPHA:261584
HP:0003011	Abnormality of the musculature	1183	CLCN4	OMIM:300114
HP:0003011	Abnormality of the musculature	10046	MAMLD1	ORPHA:456328
HP:0003011	Abnormality of the musculature	4534	MTM1	ORPHA:456328
HP:0003011	Abnormality of the musculature	4574	MT-TS1	OMIM:220110
HP:0003011	Abnormality of the musculature	4570	MT-TN	OMIM:220110
HP:0003011	Abnormality of the musculature	6834	SURF1	OMIM:220110
HP:0003011	Abnormality of the musculature	5393	EXOSC9	OMIM:618065
HP:0003011	Abnormality of the musculature	80308	FLAD1	OMIM:255100
HP:0003011	Abnormality of the musculature	2904	GRIN2B	OMIM:613970
HP:0003011	Abnormality of the musculature	55624	POMGNT1	OMIM:253280
HP:0003011	Abnormality of the musculature	85300	ATCAY	ORPHA:94122
HP:0003011	Abnormality of the musculature	4758	NEU1	OMIM:256550
HP:0003011	Abnormality of the musculature	9839	ZEB2	OMIM:235730
HP:0003011	Abnormality of the musculature	79581	SLC52A2	OMIM:614707
HP:0003011	Abnormality of the musculature	4867	NPHP1	OMIM:609583
HP:0003011	Abnormality of the musculature	1291	COL6A1	ORPHA:75840
HP:0003011	Abnormality of the musculature	1292	COL6A2	ORPHA:75840
HP:0003011	Abnormality of the musculature	1293	COL6A3	ORPHA:75840
HP:0003011	Abnormality of the musculature	3073	HEXA	OMIM:272800
HP:0003011	Abnormality of the musculature	2617	GARS1	OMIM:619042
HP:0003011	Abnormality of the musculature	51218	GLRX5	ORPHA:401866
HP:0003011	Abnormality of the musculature	10479	SLC9A6	OMIM:300243
HP:0003011	Abnormality of the musculature	8443	GNPAT	OMIM:222765
HP:0003011	Abnormality of the musculature	6341	SCO1	OMIM:619048
HP:0003011	Abnormality of the musculature	374654	KIF7	OMIM:200990
HP:0003011	Abnormality of the musculature	374654	KIF7	ORPHA:2754
HP:0003011	Abnormality of the musculature	89910	UBE3B	OMIM:244450
HP:0003011	Abnormality of the musculature	6311	ATXN2	OMIM:183090
HP:0003011	Abnormality of the musculature	6311	ATXN2	ORPHA:98756
HP:0003011	Abnormality of the musculature	1352	COX10	OMIM:619046
HP:0003011	Abnormality of the musculature	55788	LMBRD1	OMIM:277380
HP:0003011	Abnormality of the musculature	3141	HLCS	OMIM:253270
HP:0003011	Abnormality of the musculature	1763	DNA2	ORPHA:352470
HP:0003011	Abnormality of the musculature	57582	KCNT1	OMIM:614959
HP:0003011	Abnormality of the musculature	10225	CD96	OMIM:211750
HP:0003011	Abnormality of the musculature	9382	COG1	ORPHA:263508
HP:0003011	Abnormality of the musculature	3703	STT3A	ORPHA:370921
HP:0003011	Abnormality of the musculature	87178	PNPT1	ORPHA:319514
HP:0003011	Abnormality of the musculature	1340	COX6B1	OMIM:619051
HP:0003011	Abnormality of the musculature	1185	CLCN6	OMIM:619173
HP:0003011	Abnormality of the musculature	1738	DLD	ORPHA:2394
HP:0003011	Abnormality of the musculature	170302	ARX	OMIM:300215
HP:0003011	Abnormality of the musculature	100131801	PET100	OMIM:619055
HP:0003011	Abnormality of the musculature	84665	MYPN	ORPHA:171881
HP:0003011	Abnormality of the musculature	84665	MYPN	ORPHA:171439
HP:0003011	Abnormality of the musculature	7170	TPM3	ORPHA:171881
HP:0003011	Abnormality of the musculature	7170	TPM3	ORPHA:171439
HP:0003011	Abnormality of the musculature	3766	KCNJ10	OMIM:612780
HP:0003011	Abnormality of the musculature	9739	SETD1A	OMIM:619056
HP:0003011	Abnormality of the musculature	80204	FBXO11	OMIM:618089
HP:0003011	Abnormality of the musculature	5119	CHMP1A	OMIM:614961
HP:0003011	Abnormality of the musculature	23522	KAT6B	OMIM:606170
HP:0003011	Abnormality of the musculature	966	CD59	OMIM:612300
HP:0003011	Abnormality of the musculature	8792	TNFRSF11A	OMIM:612301
HP:0003011	Abnormality of the musculature	5015	OTX2	OMIM:610125
HP:0003011	Abnormality of the musculature	5238	PGM3	OMIM:615816
HP:0003011	Abnormality of the musculature	7841	MOGS	OMIM:606056
HP:0003011	Abnormality of the musculature	64087	MCCC2	OMIM:210210
HP:0003011	Abnormality of the musculature	10716	TBR1	OMIM:606053
HP:0003011	Abnormality of the musculature	1339	COX6A2	OMIM:619062
HP:0003011	Abnormality of the musculature	1717	DHCR7	OMIM:270400
HP:0003011	Abnormality of the musculature	23116	TOGARAM1	OMIM:619185
HP:0003011	Abnormality of the musculature	1327	COX4I1	OMIM:619060
HP:0003011	Abnormality of the musculature	26053	AUTS2	ORPHA:352490
HP:0003011	Abnormality of the musculature	26053	AUTS2	OMIM:615834
HP:0003011	Abnormality of the musculature	79813	EHMT1	OMIM:610253
HP:0003011	Abnormality of the musculature	649	BMP1	OMIM:614856
HP:0003011	Abnormality of the musculature	4598	MVK	OMIM:610377
HP:0003011	Abnormality of the musculature	56922	MCCC1	OMIM:210200
HP:0003011	Abnormality of the musculature	113235	SLC46A1	OMIM:229050
HP:0003011	Abnormality of the musculature	63894	VIPAS39	OMIM:613404
HP:0003011	Abnormality of the musculature	2752	GLUL	OMIM:610015
HP:0003011	Abnormality of the musculature	1906	EDN1	ORPHA:137888
HP:0003011	Abnormality of the musculature	5332	PLCB4	ORPHA:137888
HP:0003011	Abnormality of the musculature	2773	GNAI3	ORPHA:137888
HP:0003011	Abnormality of the musculature	54872	PIGG	OMIM:616917
HP:0003011	Abnormality of the musculature	5728	PTEN	ORPHA:79076
HP:0003011	Abnormality of the musculature	657	BMPR1A	ORPHA:79076
HP:0003011	Abnormality of the musculature	26005	C2CD3	OMIM:615948
HP:0003011	Abnormality of the musculature	5193	PEX12	OMIM:614859
HP:0003011	Abnormality of the musculature	5193	PEX12	OMIM:266510
HP:0003011	Abnormality of the musculature	53834	FGFRL1	OMIM:194190
HP:0003011	Abnormality of the musculature	1487	CTBP1	OMIM:194190
HP:0003011	Abnormality of the musculature	3954	LETM1	OMIM:194190
HP:0003011	Abnormality of the musculature	7468	NSD2	OMIM:194190
HP:0003011	Abnormality of the musculature	10815	CPLX1	OMIM:194190
HP:0003011	Abnormality of the musculature	84947	SERAC1	OMIM:614739
HP:0003011	Abnormality of the musculature	7915	ALDH5A1	OMIM:271980
HP:0003011	Abnormality of the musculature	2615	LRRC32	OMIM:619074
HP:0003011	Abnormality of the musculature	4953	ODC1	OMIM:619075
HP:0003011	Abnormality of the musculature	6792	CDKL5	OMIM:300672
HP:0003011	Abnormality of the musculature	1629	DBT	OMIM:248600
HP:0003011	Abnormality of the musculature	593	BCKDHA	OMIM:248600
HP:0003011	Abnormality of the musculature	594	BCKDHB	OMIM:248600
HP:0003011	Abnormality of the musculature	3028	HSD17B10	OMIM:300438
HP:0003011	Abnormality of the musculature	51660	MPC1	OMIM:614741
HP:0003011	Abnormality of the musculature	5190	PEX6	OMIM:614862
HP:0003011	Abnormality of the musculature	5190	PEX6	OMIM:614863
HP:0003011	Abnormality of the musculature	6660	SOX5	OMIM:616803
HP:0003011	Abnormality of the musculature	5828	PEX2	OMIM:614867
HP:0003011	Abnormality of the musculature	285175	UNC80	OMIM:616801
HP:0003011	Abnormality of the musculature	10290	SPEG	OMIM:615959
HP:0003011	Abnormality of the musculature	10290	SPEG	ORPHA:169186
HP:0003011	Abnormality of the musculature	90624	LYRM7	OMIM:615838
HP:0003011	Abnormality of the musculature	10056	FARSB	OMIM:613658
HP:0003011	Abnormality of the musculature	3748	KCNC3	ORPHA:98768
HP:0003011	Abnormality of the musculature	11128	POLR3A	OMIM:264090
HP:0003011	Abnormality of the musculature	5582	PRKCG	ORPHA:98763
HP:0003011	Abnormality of the musculature	55343	SLC35C1	OMIM:266265
HP:0003011	Abnormality of the musculature	55343	SLC35C1	ORPHA:99843
HP:0003011	Abnormality of the musculature	6558	SLC12A2	OMIM:619083
HP:0003011	Abnormality of the musculature	6558	SLC12A2	OMIM:619080
HP:0003011	Abnormality of the musculature	25814	ATXN10	ORPHA:98761
HP:0003011	Abnormality of the musculature	8905	AP1S2	ORPHA:85329
HP:0003011	Abnormality of the musculature	64419	MTMR14	OMIM:160150
HP:0003011	Abnormality of the musculature	64419	MTMR14	ORPHA:169189
HP:0003011	Abnormality of the musculature	5594	MAPK1	OMIM:619087
HP:0003011	Abnormality of the musculature	284217	LAMA1	OMIM:615960
HP:0003011	Abnormality of the musculature	64135	IFIH1	OMIM:615846
HP:0003011	Abnormality of the musculature	64135	IFIH1	OMIM:182250
HP:0003011	Abnormality of the musculature	5340	PLG	OMIM:217090
HP:0003011	Abnormality of the musculature	10472	ZBTB18	OMIM:612337
HP:0003011	Abnormality of the musculature	25828	TXN2	OMIM:616811
HP:0003011	Abnormality of the musculature	9409	PEX16	OMIM:614876
HP:0003011	Abnormality of the musculature	51085	MLXIPL	OMIM:194050
HP:0003011	Abnormality of the musculature	2006	ELN	OMIM:194050
HP:0003011	Abnormality of the musculature	6310	ATXN1	ORPHA:98755
HP:0003011	Abnormality of the musculature	6310	ATXN1	OMIM:164400
HP:0003011	Abnormality of the musculature	5092	PCBD1	OMIM:264070
HP:0003011	Abnormality of the musculature	4677	NARS1	OMIM:619091
HP:0003011	Abnormality of the musculature	4677	NARS1	OMIM:619092
HP:0003011	Abnormality of the musculature	8813	DPM1	OMIM:608799
HP:0003011	Abnormality of the musculature	81031	SLC2A10	OMIM:208050
HP:0003011	Abnormality of the musculature	9147	NEMF	OMIM:619099
HP:0003011	Abnormality of the musculature	10743	RAI1	OMIM:182290
HP:0003011	Abnormality of the musculature	27086	FOXP1	OMIM:613670
HP:0003011	Abnormality of the musculature	26047	CNTNAP2	OMIM:610042
HP:0003011	Abnormality of the musculature	10735	STAG2	ORPHA:521258
HP:0003011	Abnormality of the musculature	10735	STAG2	OMIM:301022
HP:0003011	Abnormality of the musculature	8504	PEX3	OMIM:614882
HP:0003011	Abnormality of the musculature	6389	SDHA	ORPHA:3208
HP:0003011	Abnormality of the musculature	6392	SDHD	ORPHA:3208
HP:0003011	Abnormality of the musculature	644096	SDHAF1	ORPHA:3208
HP:0003011	Abnormality of the musculature	1374	CPT1A	OMIM:255120
HP:0003011	Abnormality of the musculature	6611	SMS	OMIM:309583
HP:0003011	Abnormality of the musculature	7317	UBA1	ORPHA:1145
HP:0003011	Abnormality of the musculature	9928	KIF14	OMIM:617914
HP:0003011	Abnormality of the musculature	390594	KBTBD13	ORPHA:171439
HP:0003011	Abnormality of the musculature	4703	NEB	ORPHA:171439
HP:0003011	Abnormality of the musculature	10324	KLHL41	ORPHA:171439
HP:0003011	Abnormality of the musculature	2146	EZH2	OMIM:277590
HP:0003011	Abnormality of the musculature	5195	PEX14	OMIM:614887
HP:0003011	Abnormality of the musculature	147007	TMEM199	OMIM:616829
HP:0003011	Abnormality of the musculature	51322	WAC	OMIM:616708
HP:0003011	Abnormality of the musculature	84317	CCDC115	OMIM:616828
HP:0003011	Abnormality of the musculature	701	BUB1B	OMIM:257300
HP:0003011	Abnormality of the musculature	28962	OSTM1	OMIM:259720
HP:0003011	Abnormality of the musculature	54463	RETREG1	OMIM:201300
HP:0003011	Abnormality of the musculature	65125	WNK1	OMIM:201300
HP:0003011	Abnormality of the musculature	6335	SCN9A	OMIM:201300
HP:0003011	Abnormality of the musculature	547	KIF1A	OMIM:201300
HP:0003011	Abnormality of the musculature	547	KIF1A	OMIM:614255
HP:0003011	Abnormality of the musculature	667	DST	OMIM:614653
HP:0003011	Abnormality of the musculature	2033	EP300	OMIM:613684
HP:0003011	Abnormality of the musculature	10243	GPHN	OMIM:615501
HP:0003011	Abnormality of the musculature	29072	SETD2	OMIM:616831
HP:0003011	Abnormality of the musculature	57017	COQ9	OMIM:614654
HP:0003011	Abnormality of the musculature	7407	VARS1	OMIM:617802
HP:0003011	Abnormality of the musculature	196528	ARID2	OMIM:617808
HP:0003011	Abnormality of the musculature	1861	TOR1A	OMIM:128100
HP:0003011	Abnormality of the musculature	1861	TOR1A	OMIM:618947
HP:0003011	Abnormality of the musculature	56052	ALG1	OMIM:608540
HP:0003011	Abnormality of the musculature	54704	PDP1	OMIM:608782
HP:0003011	Abnormality of the musculature	10075	HUWE1	OMIM:309590
HP:0003011	Abnormality of the musculature	6309	SC5D	OMIM:607330
HP:0003011	Abnormality of the musculature	8518	ELP1	OMIM:223900
HP:0003011	Abnormality of the musculature	274	BIN1	ORPHA:169186
HP:0003011	Abnormality of the musculature	274	BIN1	ORPHA:169189
HP:0003011	Abnormality of the musculature	5979	RET	OMIM:162300
HP:0003011	Abnormality of the musculature	55906	ZC4H2	OMIM:301041
HP:0003011	Abnormality of the musculature	55906	ZC4H2	OMIM:314580
HP:0003011	Abnormality of the musculature	91949	COG7	OMIM:608779
HP:0003011	Abnormality of the musculature	8243	SMC1A	OMIM:301044
HP:0003011	Abnormality of the musculature	3033	HADH	OMIM:231530
HP:0003011	Abnormality of the musculature	2632	GBE1	OMIM:232500
HP:0003011	Abnormality of the musculature	7167	TPI1	OMIM:615512
HP:0003011	Abnormality of the musculature	9698	PUM1	OMIM:617931
HP:0003011	Abnormality of the musculature	29926	GMPPA	OMIM:615510
HP:0003011	Abnormality of the musculature	2290	FOXG1	OMIM:613454
HP:0003011	Abnormality of the musculature	80184	CEP290	OMIM:610188
HP:0003011	Abnormality of the musculature	65062	TMEM237	OMIM:614424
HP:0003011	Abnormality of the musculature	53616	ADAM22	OMIM:617933
HP:0003011	Abnormality of the musculature	85358	SHANK3	OMIM:606232
HP:0003011	Abnormality of the musculature	79796	ALG9	OMIM:608776
HP:0003011	Abnormality of the musculature	23028	KDM1A	OMIM:616728
HP:0003011	Abnormality of the musculature	6571	SLC18A2	ORPHA:352649
HP:0003011	Abnormality of the musculature	27249	MMADHC	OMIM:277410
HP:0003011	Abnormality of the musculature	26115	TANC2	OMIM:618906
HP:0003011	Abnormality of the musculature	4618	MYF6	ORPHA:169189
HP:0003011	Abnormality of the musculature	91147	TMEM67	OMIM:216360
HP:0003011	Abnormality of the musculature	57465	TBC1D24	OMIM:220500
HP:0003011	Abnormality of the musculature	5160	PDHA1	OMIM:312170
HP:0003011	Abnormality of the musculature	84162	BLTP1	OMIM:617822
HP:0003011	Abnormality of the musculature	473	RERE	OMIM:616975
HP:0003011	Abnormality of the musculature	10229	COQ7	OMIM:616733
HP:0003011	Abnormality of the musculature	23291	FBXW11	OMIM:618914
HP:0003011	Abnormality of the musculature	4893	NRAS	OMIM:613224
HP:0003011	Abnormality of the musculature	22880	MORC2	ORPHA:466768
HP:0003011	Abnormality of the musculature	7280	TUBB2A	OMIM:615763
HP:0003011	Abnormality of the musculature	998	CDC42	OMIM:616737
HP:0003011	Abnormality of the musculature	10982	MAPRE2	OMIM:616734
HP:0003011	Abnormality of the musculature	51010	EXOSC3	OMIM:614678
HP:0003011	Abnormality of the musculature	64221	ROBO3	OMIM:607313
HP:0003011	Abnormality of the musculature	3778	KCNMA1	ORPHA:79137
HP:0003011	Abnormality of the musculature	3778	KCNMA1	OMIM:617643
HP:0003011	Abnormality of the musculature	84679	SLC9A7	OMIM:301024
HP:0003011	Abnormality of the musculature	2895	GRID2	ORPHA:363432
HP:0003011	Abnormality of the musculature	4694	NDUFA1	OMIM:301020
HP:0003011	Abnormality of the musculature	7874	USP7	OMIM:616863
HP:0003011	Abnormality of the musculature	6709	SPTAN1	OMIM:613477
HP:0003011	Abnormality of the musculature	91137	SLC25A46	OMIM:616505
HP:0003011	Abnormality of the musculature	9378	NRXN1	OMIM:614325
HP:0003011	Abnormality of the musculature	51008	ASCC1	OMIM:616867
HP:0003011	Abnormality of the musculature	6606	SMN1	OMIM:253300
HP:0003011	Abnormality of the musculature	4594	MMUT	OMIM:251000
HP:0003011	Abnormality of the musculature	10943	MSL3	OMIM:301032
HP:0003011	Abnormality of the musculature	1105	CHD1	ORPHA:529965
HP:0003011	Abnormality of the musculature	5147	PDE6D	OMIM:615665
HP:0003011	Abnormality of the musculature	5147	PDE6D	ORPHA:2754
HP:0003011	Abnormality of the musculature	57511	COG6	OMIM:614576
HP:0003011	Abnormality of the musculature	23065	EMC1	OMIM:616875
HP:0003011	Abnormality of the musculature	7421	VDR	OMIM:277440
HP:0003011	Abnormality of the musculature	128637	TBC1D20	OMIM:615663
HP:0003011	Abnormality of the musculature	175	AGA	OMIM:208400
HP:0003011	Abnormality of the musculature	2475	MTOR	OMIM:616638
HP:0003011	Abnormality of the musculature	128989	TANGO2	OMIM:616878
HP:0003011	Abnormality of the musculature	57531	HACE1	OMIM:616756
HP:0003011	Abnormality of the musculature	4644	MYO5A	ORPHA:79476
HP:0003011	Abnormality of the musculature	326625	MMAB	OMIM:251110
HP:0003011	Abnormality of the musculature	60	ACTB	OMIM:243310
HP:0003011	Abnormality of the musculature	2464	FRA16E	OMIM:136570
HP:0003011	Abnormality of the musculature	11019	LIAS	OMIM:614462
HP:0003011	Abnormality of the musculature	1859	DYRK1A	OMIM:614104
HP:0003011	Abnormality of the musculature	23443	SLC35A3	OMIM:615553
HP:0003011	Abnormality of the musculature	95681	CEP41	OMIM:614464
HP:0003011	Abnormality of the musculature	29957	SLC25A24	OMIM:612289
HP:0003011	Abnormality of the musculature	64857	PLEKHG2	OMIM:616763
HP:0003011	Abnormality of the musculature	51520	LARS1	OMIM:615438
HP:0003011	Abnormality of the musculature	8936	WASF1	OMIM:618707
HP:0003011	Abnormality of the musculature	10128	LRPPRC	ORPHA:70472
HP:0003011	Abnormality of the musculature	23545	ATP6V0A2	OMIM:219200
HP:0003011	Abnormality of the musculature	26503	SLC17A5	OMIM:604369
HP:0003011	Abnormality of the musculature	26503	SLC17A5	OMIM:269920
HP:0003011	Abnormality of the musculature	55617	TASP1	OMIM:618950
HP:0003011	Abnormality of the musculature	200894	ARL13B	OMIM:612291
HP:0003011	Abnormality of the musculature	5162	PDHB	OMIM:614111
HP:0003011	Abnormality of the musculature	83737	ITCH	OMIM:613385
HP:0003011	Abnormality of the musculature	92335	STRADA	OMIM:611087
HP:0003011	Abnormality of the musculature	28957	MRPS28	OMIM:618958
HP:0003011	Abnormality of the musculature	2670	GFAP	ORPHA:363717
HP:0003011	Abnormality of the musculature	1605	DAG1	OMIM:616538
HP:0003011	Abnormality of the musculature	5500	PPP1CB	OMIM:617506
HP:0003011	Abnormality of the musculature	5376	PMP22	ORPHA:98916
HP:0003011	Abnormality of the musculature	9215	LARGE1	OMIM:608840
HP:0003011	Abnormality of the musculature	9215	LARGE1	OMIM:613154
HP:0003011	Abnormality of the musculature	617	BCS1L	OMIM:124000
HP:0003011	Abnormality of the musculature	3756	KCNH1	ORPHA:420561
HP:0003011	Abnormality of the musculature	139285	AMER1	OMIM:300373
HP:0003011	Abnormality of the musculature	9897	WASHC5	OMIM:220210
HP:0003011	Abnormality of the musculature	6497	SKI	OMIM:182212
HP:0003011	Abnormality of the musculature	95	ACY1	OMIM:609924
HP:0003011	Abnormality of the musculature	54802	TRIT1	OMIM:617873
HP:0003011	Abnormality of the musculature	23247	KATNIP	OMIM:616784
HP:0003011	Abnormality of the musculature	9731	CEP104	OMIM:616781
HP:0003011	Abnormality of the musculature	51780	KDM3B	OMIM:618846
HP:0003011	Abnormality of the musculature	5538	PPT1	OMIM:256730
HP:0003011	Abnormality of the musculature	1663	DDX11	OMIM:613398
HP:0003011	Abnormality of the musculature	29954	POMT2	OMIM:613156
HP:0003011	Abnormality of the musculature	51317	PHF21A	OMIM:618725
HP:0003011	Abnormality of the musculature	5455	POU3F3	OMIM:618604
HP:0003011	Abnormality of the musculature	2186	BPTF	OMIM:617755
HP:0003011	Abnormality of the musculature	738	VPS51	OMIM:618606
HP:0003011	Abnormality of the musculature	84700	MYO18B	OMIM:616549
HP:0003011	Abnormality of the musculature	23389	MED13L	OMIM:616789
HP:0003011	Abnormality of the musculature	5430	POLR2A	OMIM:618603
HP:0003011	Abnormality of the musculature	1585	CYP11B2	ORPHA:556030
HP:0003011	Abnormality of the musculature	57731	SPTBN4	OMIM:617519
HP:0003011	Abnormality of the musculature	4848	CNOT2	OMIM:618608
HP:0003011	Abnormality of the musculature	2639	GCDH	OMIM:231670
HP:0003011	Abnormality of the musculature	10210	TOPORS	ORPHA:2754
HP:0003011	Abnormality of the musculature	9851	KIAA0753	ORPHA:2754
HP:0003011	Abnormality of the musculature	26123	TCTN3	ORPHA:2754
HP:0003011	Abnormality of the musculature	51259	TMEM216	ORPHA:2754
HP:0003011	Abnormality of the musculature	8481	OFD1	ORPHA:2754
HP:0003011	Abnormality of the musculature	317662	FAM149B1	ORPHA:2754
HP:0003011	Abnormality of the musculature	9469	CHST3	OMIM:245600
HP:0003011	Abnormality of the musculature	26229	B3GAT3	OMIM:245600
HP:0003011	Abnormality of the musculature	1468	SLC25A10	OMIM:618972
HP:0003011	Abnormality of the musculature	1968	EIF2S3	OMIM:300148
HP:0003011	Abnormality of the musculature	5087	PBX1	OMIM:617641
HP:0003011	Abnormality of the musculature	115286	SLC25A26	OMIM:616794
HP:0003011	Abnormality of the musculature	92935	MARS2	OMIM:616430
HP:0003011	Abnormality of the musculature	6833	ABCC8	OMIM:618857
HP:0003011	Abnormality of the musculature	8398	PLA2G6	OMIM:256600
HP:0003011	Abnormality of the musculature	4858	NOVA2	OMIM:618859
HP:0003011	Abnormality of the musculature	529	ATP6V1E1	OMIM:617402
HP:0003011	Abnormality of the musculature	25871	NEPRO	OMIM:618853
HP:0003011	Abnormality of the musculature	1460	CSNK2B	OMIM:618732
HP:0003011	Abnormality of the musculature	4654	MYOD1	OMIM:618975
HP:0003011	Abnormality of the musculature	8449	DHX16	OMIM:618733
HP:0003011	Abnormality of the musculature	22868	FASTKD2	OMIM:618855
HP:0003011	Abnormality of the musculature	58508	KMT2C	OMIM:617768
HP:0003011	Abnormality of the musculature	58499	ZNF462	OMIM:618619
HP:0003011	Abnormality of the musculature	25974	MMACHC	OMIM:277400
HP:0003011	Abnormality of the musculature	5052	PRDX1	OMIM:277400
HP:0003011	Abnormality of the musculature	2582	GALE	OMIM:230350
HP:0003011	Abnormality of the musculature	25970	SH2B1	ORPHA:261222
HP:0003011	Abnormality of the musculature	51021	MRPS16	OMIM:610498
HP:0003011	Abnormality of the musculature	375748	ERCC6L2	OMIM:615715
HP:0003011	Abnormality of the musculature	54916	TMEM260	OMIM:617478
HP:0003011	Abnormality of the musculature	6927	HNF1A	ORPHA:324575
HP:0003011	Abnormality of the musculature	6878	TAF6	OMIM:617126
HP:0003011	Abnormality of the musculature	51807	TUBA8	ORPHA:250972
HP:0003011	Abnormality of the musculature	7707	ZNF148	OMIM:617260
HP:0003011	Abnormality of the musculature	5934	RBL2	OMIM:619690
HP:0003011	Abnormality of the musculature	3172	HNF4A	ORPHA:263455
HP:0003011	Abnormality of the musculature	5144	PDE4D	ORPHA:439822
HP:0003011	Abnormality of the musculature	23040	MYT1L	OMIM:616521
HP:0003011	Abnormality of the musculature	5293	PIK3CD	ORPHA:221139
HP:0003011	Abnormality of the musculature	90417	KNSTRN	ORPHA:221139
HP:0003011	Abnormality of the musculature	10283	CWC27	ORPHA:166035
HP:0003011	Abnormality of the musculature	5331	PLCB3	OMIM:618961
HP:0003011	Abnormality of the musculature	29928	TIMM22	OMIM:618851
HP:0003011	Abnormality of the musculature	57728	WDR19	OMIM:614378
HP:0003011	Abnormality of the musculature	8974	P4HA2	ORPHA:397
HP:0003011	Abnormality of the musculature	79577	CDC73	ORPHA:143
HP:0003011	Abnormality of the musculature	79577	CDC73	ORPHA:99880
HP:0003011	Abnormality of the musculature	84133	ZNRF3	ORPHA:1501
HP:0003011	Abnormality of the musculature	1029	CDKN2A	ORPHA:1501
HP:0003011	Abnormality of the musculature	4669	NAGLU	OMIM:616491
HP:0003011	Abnormality of the musculature	50485	SMARCAL1	ORPHA:1830
HP:0003011	Abnormality of the musculature	1758	DMP1	ORPHA:289176
HP:0003011	Abnormality of the musculature	5167	ENPP1	ORPHA:289176
HP:0003011	Abnormality of the musculature	221496	LEMD2	OMIM:619322
HP:0003011	Abnormality of the musculature	212	ALAS2	ORPHA:75563
HP:0003011	Abnormality of the musculature	6424	SFRP4	OMIM:265900
HP:0003011	Abnormality of the musculature	54800	KLHL24	OMIM:620236
HP:0003011	Abnormality of the musculature	6340	SCNN1G	ORPHA:526
HP:0003011	Abnormality of the musculature	6338	SCNN1B	ORPHA:526
HP:0003011	Abnormality of the musculature	6337	SCNN1A	ORPHA:526
HP:0003011	Abnormality of the musculature	3593	IL12B	ORPHA:3287
HP:0003011	Abnormality of the musculature	6945	MLX	ORPHA:3287
HP:0003011	Abnormality of the musculature	1181	CLCN2	ORPHA:404
HP:0003011	Abnormality of the musculature	1584	CYP11B1	ORPHA:403
HP:0003011	Abnormality of the musculature	54936	ADPRS	OMIM:618170
HP:0003011	Abnormality of the musculature	5371	PML	ORPHA:520
HP:0003011	Abnormality of the musculature	5914	RARA	ORPHA:520
HP:0003011	Abnormality of the musculature	359948	IRF2BP2	ORPHA:520
HP:0003011	Abnormality of the musculature	81608	FIP1L1	ORPHA:520
HP:0003011	Abnormality of the musculature	4869	NPM1	ORPHA:520
HP:0003011	Abnormality of the musculature	64859	NABP1	ORPHA:520
HP:0003011	Abnormality of the musculature	6777	STAT5B	ORPHA:520
HP:0003011	Abnormality of the musculature	4926	NUMA1	ORPHA:520
HP:0003011	Abnormality of the musculature	7704	ZBTB16	ORPHA:520
HP:0003011	Abnormality of the musculature	2038	EPB42	ORPHA:822
HP:0003011	Abnormality of the musculature	6521	SLC4A1	ORPHA:822
HP:0003011	Abnormality of the musculature	6521	SLC4A1	OMIM:179800
HP:0003011	Abnormality of the musculature	6710	SPTB	ORPHA:822
HP:0003011	Abnormality of the musculature	6708	SPTA1	ORPHA:822
HP:0003011	Abnormality of the musculature	286	ANK1	ORPHA:822
HP:0003011	Abnormality of the musculature	1175	AP2S1	OMIM:600740
HP:0003011	Abnormality of the musculature	54805	CNNM2	OMIM:613882
HP:0003011	Abnormality of the musculature	1962	EHHADH	ORPHA:3337
HP:0003011	Abnormality of the musculature	710	SERPING1	OMIM:106100
HP:0003011	Abnormality of the musculature	7200	TRH	OMIM:275120
HP:0003011	Abnormality of the musculature	6301	SARS1	OMIM:617709
HP:0003011	Abnormality of the musculature	2821	GPI	OMIM:613470
HP:0003011	Abnormality of the musculature	20	ABCA2	OMIM:618808
HP:0003011	Abnormality of the musculature	11280	SCN11A	OMIM:615548
HP:0003011	Abnormality of the musculature	57817	HAMP	ORPHA:79230
HP:0003011	Abnormality of the musculature	148738	HJV	ORPHA:79230
HP:0003011	Abnormality of the musculature	6472	SHMT2	OMIM:619121
HP:0003011	Abnormality of the musculature	50964	SOST	OMIM:122860
HP:0003011	Abnormality of the musculature	55823	VPS11	OMIM:616683
HP:0003011	Abnormality of the musculature	775	CACNA1C	OMIM:620029
HP:0003011	Abnormality of the musculature	4047	LSS	ORPHA:2850
HP:0003011	Abnormality of the musculature	197	AHSG	ORPHA:2850
HP:0003011	Abnormality of the musculature	3694	ITGB6	ORPHA:2850
HP:0003011	Abnormality of the musculature	5352	PLOD2	OMIM:609220
HP:0003011	Abnormality of the musculature	5447	POR	ORPHA:95699
HP:0003011	Abnormality of the musculature	5447	POR	OMIM:207410
HP:0003011	Abnormality of the musculature	4312	MMP1	ORPHA:79408
HP:0003011	Abnormality of the musculature	4312	MMP1	OMIM:226600
HP:0003011	Abnormality of the musculature	1294	COL7A1	ORPHA:79408
HP:0003011	Abnormality of the musculature	1294	COL7A1	OMIM:226600
HP:0003011	Abnormality of the musculature	1294	COL7A1	ORPHA:89842
HP:0003011	Abnormality of the musculature	6775	STAT4	ORPHA:85408
HP:0003011	Abnormality of the musculature	3560	IL2RB	ORPHA:85408
HP:0003011	Abnormality of the musculature	79722	ANKRD55	ORPHA:85408
HP:0003011	Abnormality of the musculature	26191	PTPN22	ORPHA:85408
HP:0003011	Abnormality of the musculature	919	CD247	ORPHA:85408
HP:0003011	Abnormality of the musculature	3559	IL2RA	ORPHA:85408
HP:0003011	Abnormality of the musculature	5771	PTPN2	ORPHA:85408
HP:0003011	Abnormality of the musculature	3020	H3-3A	OMIM:619720
HP:0003011	Abnormality of the musculature	65082	VPS33A	OMIM:617303
HP:0003011	Abnormality of the musculature	65082	VPS33A	ORPHA:505248
HP:0003011	Abnormality of the musculature	128486	FITM2	OMIM:618635
HP:0003011	Abnormality of the musculature	6595	SMARCA2	OMIM:619293
HP:0003011	Abnormality of the musculature	1146	CHRNG	OMIM:265000
HP:0003011	Abnormality of the musculature	1146	CHRNG	OMIM:253290
HP:0003011	Abnormality of the musculature	23250	ATP11A	OMIM:619851
HP:0003011	Abnormality of the musculature	1889	ECE1	OMIM:613870
HP:0003011	Abnormality of the musculature	3423	IDS	ORPHA:217085
HP:0003011	Abnormality of the musculature	3423	IDS	OMIM:309900
HP:0003011	Abnormality of the musculature	3423	IDS	ORPHA:217093
HP:0003011	Abnormality of the musculature	8560	DEGS1	OMIM:618404
HP:0003011	Abnormality of the musculature	546	ATRX	ORPHA:847
HP:0003011	Abnormality of the musculature	3848	KRT1	ORPHA:79503
HP:0003011	Abnormality of the musculature	56984	PSMG2	OMIM:619183
HP:0003011	Abnormality of the musculature	3679	ITGA7	ORPHA:2020
HP:0003011	Abnormality of the musculature	9200	HACD1	ORPHA:2020
HP:0003011	Abnormality of the musculature	84314	TMEM107	OMIM:617562
HP:0003011	Abnormality of the musculature	1641	DCX	ORPHA:2148
HP:0003011	Abnormality of the musculature	3425	IDUA	OMIM:607014
HP:0003011	Abnormality of the musculature	5373	PMM2	OMIM:212065
HP:0003011	Abnormality of the musculature	55699	IARS2	OMIM:616007
HP:0003011	Abnormality of the musculature	27286	SRPX2	ORPHA:98889
HP:0003011	Abnormality of the musculature	57152	SLURP1	ORPHA:87503
HP:0003011	Abnormality of the musculature	388015	RTL1	ORPHA:96334
HP:0003011	Abnormality of the musculature	388015	RTL1	ORPHA:254528
HP:0003011	Abnormality of the musculature	8788	DLK1	ORPHA:96334
HP:0003011	Abnormality of the musculature	8788	DLK1	ORPHA:254528
HP:0003011	Abnormality of the musculature	55384	MEG3	ORPHA:96334
HP:0003011	Abnormality of the musculature	55384	MEG3	ORPHA:254528
HP:0003011	Abnormality of the musculature	8242	KDM5C	OMIM:300534
HP:0003011	Abnormality of the musculature	55612	FERMT1	ORPHA:2908
HP:0003011	Abnormality of the musculature	5692	PSMB4	OMIM:617591
HP:0003011	Abnormality of the musculature	5698	PSMB9	OMIM:617591
HP:0003011	Abnormality of the musculature	51227	PIGP	OMIM:617599
HP:0003011	Abnormality of the musculature	6567	SLC16A2	ORPHA:59
HP:0003011	Abnormality of the musculature	6567	SLC16A2	OMIM:300523
HP:0003011	Abnormality of the musculature	91252	SLC39A13	ORPHA:157965
HP:0003011	Abnormality of the musculature	171023	ASXL1	OMIM:605039
HP:0003011	Abnormality of the musculature	1387	CREBBP	OMIM:618332
HP:0003011	Abnormality of the musculature	1387	CREBBP	OMIM:180849
HP:0003011	Abnormality of the musculature	54101	RIPK4	OMIM:263650
HP:0003011	Abnormality of the musculature	3329	HSPD1	OMIM:612233
HP:0003011	Abnormality of the musculature	55770	EXOC2	OMIM:619306
HP:0003011	Abnormality of the musculature	23592	LEMD3	OMIM:166700
HP:0003011	Abnormality of the musculature	23592	LEMD3	ORPHA:1306
HP:0003011	Abnormality of the musculature	7051	TGM1	OMIM:242300
HP:0003011	Abnormality of the musculature	9663	LPIN2	OMIM:609628
HP:0003011	Abnormality of the musculature	9663	LPIN2	ORPHA:77297
HP:0003011	Abnormality of the musculature	579	NKX3-2	OMIM:613330
HP:0003011	Abnormality of the musculature	256297	PTF1A	OMIM:609069
HP:0003011	Abnormality of the musculature	411	ARSB	OMIM:253200
HP:0003011	Abnormality of the musculature	1302	COL11A2	OMIM:215150
HP:0003011	Abnormality of the musculature	6651	SON	OMIM:617140
HP:0003011	Abnormality of the musculature	8882	ZPR1	OMIM:619321
HP:0003011	Abnormality of the musculature	1836	SLC26A2	ORPHA:93307
HP:0003011	Abnormality of the musculature	2263	FGFR2	OMIM:207410
HP:0003011	Abnormality of the musculature	112939	NACC1	ORPHA:500545
HP:0003011	Abnormality of the musculature	5831	PYCR1	OMIM:614438
HP:0003011	Abnormality of the musculature	5010	CLDN11	OMIM:619328
HP:0003011	Abnormality of the musculature	23729	SHPK	ORPHA:440713
HP:0003011	Abnormality of the musculature	3039	HBA1	ORPHA:98791
HP:0003011	Abnormality of the musculature	3040	HBA2	ORPHA:98791
HP:0003011	Abnormality of the musculature	10940	POP1	OMIM:617396
HP:0003011	Abnormality of the musculature	4998	ORC1	OMIM:224690
HP:0003011	Abnormality of the musculature	11253	MAN1B1	OMIM:614202
HP:0003011	Abnormality of the musculature	2072	ERCC4	OMIM:278760
HP:0003011	Abnormality of the musculature	4878	NPPA	ORPHA:1344
HP:0003011	Abnormality of the musculature	7965	AIMP2	OMIM:618006
HP:0003011	Abnormality of the musculature	57211	ADGRG6	OMIM:616503
HP:0003011	Abnormality of the musculature	29920	PYCR2	ORPHA:481152
HP:0003011	Abnormality of the musculature	8425	LTBP4	ORPHA:98896
HP:0003011	Abnormality of the musculature	8200	GDF5	OMIM:200700
HP:0003011	Abnormality of the musculature	2517	FUCA1	OMIM:230000
HP:0003011	Abnormality of the musculature	22931	RAB18	OMIM:614222
HP:0003011	Abnormality of the musculature	162514	TRPV3	OMIM:614594
HP:0003011	Abnormality of the musculature	202018	TAPT1	OMIM:616897
HP:0003011	Abnormality of the musculature	342035	GLDN	OMIM:617194
HP:0003011	Abnormality of the musculature	2176	FANCC	OMIM:227645
HP:0003011	Abnormality of the musculature	2990	GUSB	OMIM:253220
HP:0003011	Abnormality of the musculature	8815	BANF1	OMIM:614008
HP:0003011	Abnormality of the musculature	84081	NSRP1	OMIM:620001
HP:0003011	Abnormality of the musculature	2801	GOLGA2	OMIM:620240
HP:0003011	Abnormality of the musculature	224	ALDH3A2	OMIM:270200
HP:0003011	Abnormality of the musculature	129285	PPP1R21	OMIM:619383
HP:0003011	Abnormality of the musculature	84842	HPDL	OMIM:619026
HP:0003011	Abnormality of the musculature	22978	NT5C2	OMIM:613162
HP:0003011	Abnormality of the musculature	1235	CCR6	ORPHA:220393
HP:0003011	Abnormality of the musculature	1490	CCN2	ORPHA:220393
HP:0003011	Abnormality of the musculature	3663	IRF5	ORPHA:220393
HP:0003011	Abnormality of the musculature	857	CAV1	ORPHA:220393
HP:0003011	Abnormality of the musculature	3123	HLA-DRB1	ORPHA:220393
HP:0003011	Abnormality of the musculature	5696	PSMB8	OMIM:256040
HP:0003011	Abnormality of the musculature	246329	STAC3	OMIM:255995
HP:0003011	Abnormality of the musculature	347733	TUBB2B	OMIM:610031
HP:0003011	Abnormality of the musculature	10381	TUBB3	ORPHA:300570
HP:0003011	Abnormality of the musculature	10381	TUBB3	OMIM:600638
HP:0003011	Abnormality of the musculature	401	PHOX2A	OMIM:602078
HP:0003011	Abnormality of the musculature	55605	KIF21A	OMIM:135700
HP:0003011	Abnormality of the musculature	79776	ZFHX4	ORPHA:91411
HP:0003011	Abnormality of the musculature	10584	COLEC10	OMIM:248340
HP:0003011	Abnormality of the musculature	10584	COLEC10	ORPHA:293843
HP:0003011	Abnormality of the musculature	145173	B3GLCT	OMIM:261540
HP:0003011	Abnormality of the musculature	5648	MASP1	OMIM:257920
HP:0003011	Abnormality of the musculature	5648	MASP1	ORPHA:293843
HP:0003011	Abnormality of the musculature	63916	ELMO2	OMIM:606893
HP:0003011	Abnormality of the musculature	55012	PPP2R3C	OMIM:618419
HP:0003011	Abnormality of the musculature	3728	JUP	ORPHA:158687
HP:0003011	Abnormality of the musculature	91179	SCARF2	OMIM:600920
HP:0003011	Abnormality of the musculature	57459	GATAD2B	ORPHA:363686
HP:0003011	Abnormality of the musculature	131118	DNAJC19	ORPHA:66634
HP:0003011	Abnormality of the musculature	200403	VWA3B	OMIM:616948
HP:0003011	Abnormality of the musculature	7384	UQCRC1	OMIM:619279
HP:0003011	Abnormality of the musculature	4016	LOXL1	OMIM:177650
HP:0003011	Abnormality of the musculature	10501	SEMA6B	OMIM:618876
HP:0003011	Abnormality of the musculature	55037	PTCD3	OMIM:619057
HP:0003011	Abnormality of the musculature	8622	PDE8B	OMIM:609161
HP:0003011	Abnormality of the musculature	8622	PDE8B	ORPHA:228169
HP:0003011	Abnormality of the musculature	6575	SLC20A2	OMIM:213600
HP:0003011	Abnormality of the musculature	51142	CHCHD2	OMIM:616710
HP:0003011	Abnormality of the musculature	2747	GLUD2	OMIM:168600
HP:0003011	Abnormality of the musculature	126	ADH1C	OMIM:168600
HP:0003011	Abnormality of the musculature	9627	SNCAIP	OMIM:168600
HP:0003011	Abnormality of the musculature	55610	VPS50	OMIM:619685
HP:0003011	Abnormality of the musculature	129685	TAF8	OMIM:619972
HP:0003011	Abnormality of the musculature	5498	PPOX	ORPHA:79473
HP:0003011	Abnormality of the musculature	4524	MTHFR	ORPHA:395
HP:0003011	Abnormality of the musculature	9255	AIMP1	OMIM:260600
HP:0003011	Abnormality of the musculature	11152	WDR45	ORPHA:329284
HP:0003011	Abnormality of the musculature	11152	WDR45	OMIM:300894
HP:0003011	Abnormality of the musculature	2806	GOT2	OMIM:618721
HP:0003011	Abnormality of the musculature	25792	CIZ1	ORPHA:420492
HP:0003011	Abnormality of the musculature	6515	SLC2A3	ORPHA:399
HP:0003011	Abnormality of the musculature	8838	CCN6	OMIM:208230
HP:0003011	Abnormality of the musculature	80821	DDHD1	OMIM:609340
HP:0003011	Abnormality of the musculature	5917	RARS1	ORPHA:438114
HP:0003011	Abnormality of the musculature	823	CAPN1	OMIM:616907
HP:0003011	Abnormality of the musculature	343641	TGM6	ORPHA:276193
HP:0003011	Abnormality of the musculature	343641	TGM6	OMIM:613908
HP:0003011	Abnormality of the musculature	84138	SLC7A6OS	OMIM:619191
HP:0003011	Abnormality of the musculature	146057	TTBK2	ORPHA:98767
HP:0003011	Abnormality of the musculature	2259	FGF14	ORPHA:98764
HP:0003011	Abnormality of the musculature	10613	ERLIN1	ORPHA:401785
HP:0003011	Abnormality of the musculature	10613	ERLIN1	OMIM:615681
HP:0003011	Abnormality of the musculature	23204	ARL6IP1	ORPHA:401780
HP:0003011	Abnormality of the musculature	2512	FTL	ORPHA:157846
HP:0003011	Abnormality of the musculature	4883	NPR3	OMIM:619543
HP:0003011	Abnormality of the musculature	4148	MATN3	ORPHA:93311
HP:0003011	Abnormality of the musculature	3208	HPCA	ORPHA:99657
HP:0003011	Abnormality of the musculature	1436	CSF1R	OMIM:618476
HP:0003011	Abnormality of the musculature	518	ATP5MC3	OMIM:619681
HP:0003011	Abnormality of the musculature	6652	SORD	OMIM:618912
HP:0003011	Abnormality of the musculature	57599	WDR48	ORPHA:401800
HP:0003011	Abnormality of the musculature	26175	LYSET	OMIM:619345
HP:0003011	Abnormality of the musculature	7453	WARS1	OMIM:617721
HP:0003011	Abnormality of the musculature	340075	ARSI	ORPHA:401815
HP:0003011	Abnormality of the musculature	8988	HSPB3	OMIM:613376
HP:0003011	Abnormality of the musculature	1200	TPP1	ORPHA:284324
HP:0003011	Abnormality of the musculature	5317	PKP1	ORPHA:158668
HP:0003011	Abnormality of the musculature	81545	FBXO38	OMIM:615575
HP:0003011	Abnormality of the musculature	10299	MARCHF6	OMIM:613608
HP:0003011	Abnormality of the musculature	318	NUDT2	OMIM:619844
HP:0003011	Abnormality of the musculature	116228	COX20	OMIM:619054
HP:0003011	Abnormality of the musculature	267010	RNU12	OMIM:620208
HP:0003011	Abnormality of the musculature	267010	RNU12	ORPHA:512260
HP:0003011	Abnormality of the musculature	54834	GDAP2	OMIM:618369
HP:0003011	Abnormality of the musculature	23317	DNAJC13	ORPHA:411602
HP:0003011	Abnormality of the musculature	1981	EIF4G1	ORPHA:411602
HP:0003011	Abnormality of the musculature	55737	VPS35	ORPHA:411602
HP:0003011	Abnormality of the musculature	120892	LRRK2	ORPHA:411602
HP:0003011	Abnormality of the musculature	26058	GIGYF2	ORPHA:411602
HP:0003011	Abnormality of the musculature	6622	SNCA	ORPHA:411602
HP:0003011	Abnormality of the musculature	9570	GOSR2	OMIM:620166
HP:0003011	Abnormality of the musculature	55149	MTPAP	ORPHA:254343
HP:0003011	Abnormality of the musculature	55703	POLR3B	OMIM:619742
HP:0003011	Abnormality of the musculature	2705	GJB1	OMIM:302800
HP:0003011	Abnormality of the musculature	2705	GJB1	ORPHA:1175
HP:0003011	Abnormality of the musculature	4137	MAPT	ORPHA:240103
HP:0003011	Abnormality of the musculature	9896	FIG4	OMIM:611228
HP:0003011	Abnormality of the musculature	27235	COQ2	ORPHA:98933
HP:0003011	Abnormality of the musculature	27235	COQ2	ORPHA:227510
HP:0003011	Abnormality of the musculature	56006	SMG9	OMIM:619995
HP:0003011	Abnormality of the musculature	10367	MICU1	OMIM:615673
HP:0003011	Abnormality of the musculature	10846	PDE10A	ORPHA:494526
HP:0003011	Abnormality of the musculature	10846	PDE10A	OMIM:616921
HP:0003011	Abnormality of the musculature	55280	CWF19L1	OMIM:616127
HP:0003011	Abnormality of the musculature	55280	CWF19L1	ORPHA:453521
HP:0003011	Abnormality of the musculature	3032	HADHB	ORPHA:746
HP:0003011	Abnormality of the musculature	79152	FA2H	ORPHA:171629
HP:0003011	Abnormality of the musculature	111	ADCY5	OMIM:619647
HP:0003011	Abnormality of the musculature	80025	PANK2	ORPHA:216873
HP:0003011	Abnormality of the musculature	80025	PANK2	ORPHA:216866
HP:0003011	Abnormality of the musculature	84823	LMNB2	OMIM:616540
HP:0003011	Abnormality of the musculature	383	ARG1	OMIM:207800
HP:0003011	Abnormality of the musculature	57410	SCYL1	ORPHA:466794
HP:0003011	Abnormality of the musculature	57410	SCYL1	OMIM:616719
HP:0003011	Abnormality of the musculature	23479	ISCU	OMIM:255125
HP:0003011	Abnormality of the musculature	124093	CCDC78	OMIM:614807
HP:0003011	Abnormality of the musculature	9181	ARHGEF2	OMIM:617523
HP:0003011	Abnormality of the musculature	8996	NOL3	OMIM:614937
HP:0003011	Abnormality of the musculature	3752	KCND3	ORPHA:98772
HP:0003011	Abnormality of the musculature	3752	KCND3	OMIM:607346
HP:0003011	Abnormality of the musculature	4311	MME	ORPHA:497764
HP:0003011	Abnormality of the musculature	10159	ATP6AP2	OMIM:300911
HP:0003011	Abnormality of the musculature	10159	ATP6AP2	ORPHA:363654
HP:0003011	Abnormality of the musculature	1600	DAB1	ORPHA:363710
HP:0003011	Abnormality of the musculature	3739	KCNA4	OMIM:618284
HP:0003011	Abnormality of the musculature	23732	FRRS1L	OMIM:616981
HP:0003011	Abnormality of the musculature	116442	RAB39B	ORPHA:2379
HP:0003011	Abnormality of the musculature	116442	RAB39B	OMIM:311510
HP:0003011	Abnormality of the musculature	1356	CP	OMIM:604290
HP:0003011	Abnormality of the musculature	6531	SLC6A3	OMIM:613135
HP:0003011	Abnormality of the musculature	3781	KCNN2	OMIM:619725
HP:0003011	Abnormality of the musculature	339453	TMEM240	OMIM:607454
HP:0003011	Abnormality of the musculature	6326	SCN2A	ORPHA:33069
HP:0003011	Abnormality of the musculature	2554	GABRA1	ORPHA:33069
HP:0003011	Abnormality of the musculature	6323	SCN1A	ORPHA:33069
HP:0003011	Abnormality of the musculature	57526	PCDH19	ORPHA:33069
HP:0003011	Abnormality of the musculature	80704	SLC19A3	OMIM:607483
HP:0003011	Abnormality of the musculature	5281	PIGF	OMIM:619356
HP:0003011	Abnormality of the musculature	64432	MRPS25	OMIM:619025
HP:0003011	Abnormality of the musculature	101060691	NUTM2B-AS1	OMIM:618637
HP:0003011	Abnormality of the musculature	7920	ABHD16A	OMIM:619735
HP:0003011	Abnormality of the musculature	65998	ZFTA	ORPHA:251636
HP:0003011	Abnormality of the musculature	5970	RELA	ORPHA:251636
HP:0003011	Abnormality of the musculature	60481	ELOVL5	OMIM:615957
HP:0003011	Abnormality of the musculature	60481	ELOVL5	ORPHA:423296
HP:0003011	Abnormality of the musculature	5981	RFC1	ORPHA:504476
HP:0003011	Abnormality of the musculature	3300	DNAJB2	OMIM:614881
HP:0003011	Abnormality of the musculature	3315	HSPB1	OMIM:606595
HP:0003011	Abnormality of the musculature	64423	INF2	OMIM:614455
HP:0003011	Abnormality of the musculature	1786	DNMT1	OMIM:614116
HP:0003011	Abnormality of the musculature	93587	TRMT10A	ORPHA:391408
HP:0003011	Abnormality of the musculature	84919	PPP1R15B	ORPHA:391408
HP:0003011	Abnormality of the musculature	3710	ITPR3	OMIM:620111
HP:0003011	Abnormality of the musculature	7515	XRCC1	OMIM:617633
HP:0003011	Abnormality of the musculature	1371	CPOX	ORPHA:79273
HP:0003011	Abnormality of the musculature	3145	HMBS	ORPHA:79276
HP:0003011	Abnormality of the musculature	50846	DHH	ORPHA:168563
HP:0003011	Abnormality of the musculature	25782	RAB3GAP2	ORPHA:401830
HP:0003011	Abnormality of the musculature	9179	AP4M1	ORPHA:280763
HP:0003011	Abnormality of the musculature	23431	AP4E1	ORPHA:280763
HP:0003011	Abnormality of the musculature	724066	ATXN8	ORPHA:98760
HP:0003011	Abnormality of the musculature	6315	ATXN8OS	ORPHA:98760
HP:0003011	Abnormality of the musculature	54	ACP5	OMIM:607944
HP:0003011	Abnormality of the musculature	133686	NADK2	ORPHA:431361
HP:0003011	Abnormality of the musculature	5048	PAFAH1B1	ORPHA:95232
HP:0003011	Abnormality of the musculature	487	ATP2A1	OMIM:601003
HP:0003011	Abnormality of the musculature	5213	PFKM	ORPHA:371
HP:0003011	Abnormality of the musculature	3094	HINT1	ORPHA:324442
HP:0003011	Abnormality of the musculature	7345	UCHL1	OMIM:615491
HP:0003011	Abnormality of the musculature	203547	VMA21	OMIM:310440
HP:0003011	Abnormality of the musculature	7555	CNBP	ORPHA:606
HP:0003011	Abnormality of the musculature	7555	CNBP	OMIM:602668
HP:0003011	Abnormality of the musculature	1180	CLCN1	OMIM:255700
HP:0003011	Abnormality of the musculature	1180	CLCN1	ORPHA:614
HP:0003011	Abnormality of the musculature	1180	CLCN1	OMIM:160800
HP:0003011	Abnormality of the musculature	2273	FHL1	ORPHA:98863
HP:0003011	Abnormality of the musculature	2010	EMD	ORPHA:98863
HP:0003011	Abnormality of the musculature	79188	TMEM43	ORPHA:98853
HP:0003011	Abnormality of the musculature	23224	SYNE2	ORPHA:98853
HP:0003011	Abnormality of the musculature	80185	TTI2	ORPHA:391307
HP:0003011	Abnormality of the musculature	23310	NCAPD3	OMIM:617984
HP:0003011	Abnormality of the musculature	535	ATP6V0A1	OMIM:619971
HP:0003011	Abnormality of the musculature	7283	TUBG1	OMIM:615412
HP:0003011	Abnormality of the musculature	3796	KIF2A	OMIM:615411
HP:0003011	Abnormality of the musculature	170825	GSX2	OMIM:618646
HP:0003011	Abnormality of the musculature	1284	COL4A2	OMIM:614483
HP:0003011	Abnormality of the musculature	10695	CNPY3	OMIM:617929
HP:0003011	Abnormality of the musculature	8575	PRKRA	OMIM:612067
HP:0003011	Abnormality of the musculature	4629	MYH11	OMIM:619350
HP:0003011	Abnormality of the musculature	72	ACTG2	OMIM:155310
HP:0003011	Abnormality of the musculature	219972	MPEG1	OMIM:619223
HP:0003011	Abnormality of the musculature	54832	VPS13C	ORPHA:2828
HP:0003011	Abnormality of the musculature	11315	PARK7	ORPHA:2828
HP:0003011	Abnormality of the musculature	9829	DNAJC6	ORPHA:2828
HP:0003011	Abnormality of the musculature	5420	PODXL	ORPHA:2828
HP:0003011	Abnormality of the musculature	65018	PINK1	ORPHA:2828
HP:0003011	Abnormality of the musculature	5071	PRKN	ORPHA:2828
HP:0003011	Abnormality of the musculature	100128927	ZBTB42	OMIM:616248
HP:0003011	Abnormality of the musculature	56975	FAM20C	OMIM:259775
HP:0003011	Abnormality of the musculature	1020	CDK5	OMIM:616342
HP:0003011	Abnormality of the musculature	23265	EXOC7	OMIM:619072
HP:0003011	Abnormality of the musculature	55165	CEP55	OMIM:236500
HP:0003011	Abnormality of the musculature	3911	LAMA5	OMIM:620076
HP:0003011	Abnormality of the musculature	4157	MC1R	ORPHA:626
HP:0003011	Abnormality of the musculature	4193	MDM2	ORPHA:524
HP:0003011	Abnormality of the musculature	11200	CHEK2	ORPHA:524
HP:0003011	Abnormality of the musculature	545	ATR	OMIM:210600
HP:0003011	Abnormality of the musculature	6628	SNRPB	OMIM:117650
HP:0003011	Abnormality of the musculature	340419	RSPO2	OMIM:618022
HP:0003011	Abnormality of the musculature	23233	EXOC6B	ORPHA:93359
HP:0003011	Abnormality of the musculature	7476	WNT7A	OMIM:276820
HP:0003011	Abnormality of the musculature	889	KRIT1	OMIM:116860
HP:0003011	Abnormality of the musculature	2303	FOXC2	OMIM:153400
HP:0003011	Abnormality of the musculature	7454	WAS	OMIM:313900
HP:0003011	Abnormality of the musculature	4626	MYH8	ORPHA:3377
HP:0003011	Abnormality of the musculature	56244	BTNL2	ORPHA:797
HP:0003011	Abnormality of the musculature	11160	ERLIN2	ORPHA:280384
HP:0003011	Abnormality of the musculature	29968	PSAT1	ORPHA:284417
HP:0003011	Abnormality of the musculature	51102	MECR	OMIM:617282
HP:0003011	Abnormality of the musculature	23516	SLC39A14	OMIM:617013
HP:0003011	Abnormality of the musculature	57679	ALS2	OMIM:205100
HP:0003011	Abnormality of the musculature	2902	GRIN1	OMIM:619814
HP:0003011	Abnormality of the musculature	55131	RBM28	OMIM:612079
HP:0003011	Abnormality of the musculature	7355	SLC35A2	ORPHA:356961
HP:0003011	Abnormality of the musculature	2157	F8	ORPHA:169802
HP:0003011	Abnormality of the musculature	51091	SEPSECS	OMIM:613811
HP:0003011	Abnormality of the musculature	819	CAMLG	OMIM:620201
HP:0003011	Abnormality of the musculature	5277	PIGA	OMIM:301072
HP:0003011	Abnormality of the musculature	55768	NGLY1	ORPHA:404454
HP:0003011	Abnormality of the musculature	10269	ZMPSTE24	OMIM:275210
HP:0003011	Abnormality of the musculature	59341	TRPV4	ORPHA:93314
HP:0003011	Abnormality of the musculature	1308	COL17A1	ORPHA:251393
HP:0003011	Abnormality of the musculature	3691	ITGB4	ORPHA:251393
HP:0003011	Abnormality of the musculature	92579	G6PC3	OMIM:612541
HP:0003011	Abnormality of the musculature	7498	XDH	OMIM:278300
HP:0003011	Abnormality of the musculature	4576	MT-TT	OMIM:551000
HP:0003011	Abnormality of the musculature	493856	CISD2	ORPHA:3463
HP:0003011	Abnormality of the musculature	7466	WFS1	ORPHA:3463
HP:0003011	Abnormality of the musculature	4539	MT-ND4L	ORPHA:104
HP:0003011	Abnormality of the musculature	4539	MT-ND4L	OMIM:535000
HP:0003011	Abnormality of the musculature	2729	GCLC	ORPHA:33574
HP:0003011	Abnormality of the musculature	2729	GCLC	OMIM:230450
HP:0003011	Abnormality of the musculature	26007	TKFC	ORPHA:1369
HP:0003011	Abnormality of the musculature	1297	COL9A1	ORPHA:166002
HP:0003011	Abnormality of the musculature	1298	COL9A2	ORPHA:166002
HP:0003011	Abnormality of the musculature	1299	COL9A3	ORPHA:166002
HP:0003011	Abnormality of the musculature	708	C1QBP	OMIM:617713
HP:0003011	Abnormality of the musculature	1063	CENPF	OMIM:243605
HP:0003011	Abnormality of the musculature	4547	MTTP	ORPHA:14
HP:0003011	Abnormality of the musculature	81839	VANGL1	ORPHA:3027
HP:0003011	Abnormality of the musculature	2887	GRB10	ORPHA:96182
HP:0003011	Abnormality of the musculature	2488	FSHB	OMIM:229070
HP:0003011	Abnormality of the musculature	2538	G6PC1	OMIM:232200
HP:0003011	Abnormality of the musculature	654	BMP6	ORPHA:465508
HP:0003011	Abnormality of the musculature	3077	HFE	ORPHA:465508
HP:0003011	Abnormality of the musculature	4513	MT-CO2	ORPHA:550
HP:0003011	Abnormality of the musculature	4513	MT-CO2	OMIM:540000
HP:0003011	Abnormality of the musculature	27089	UQCRQ	OMIM:615159
HP:0003011	Abnormality of the musculature	4519	MT-CYB	OMIM:540000
HP:0003011	Abnormality of the musculature	4511	MT-TC	OMIM:540000
HP:0003011	Abnormality of the musculature	4565	MT-TI	OMIM:545000
HP:0003011	Abnormality of the musculature	81034	SLC25A32	OMIM:616839
HP:0003011	Abnormality of the musculature	7504	XK	OMIM:300842
HP:0003011	Abnormality of the musculature	23600	AMACR	ORPHA:79095
HP:0003011	Abnormality of the musculature	5230	PGK1	OMIM:300653
HP:0003011	Abnormality of the musculature	5230	PGK1	ORPHA:713
HP:0003011	Abnormality of the musculature	513	ATP5F1D	OMIM:618120
HP:0003011	Abnormality of the musculature	5224	PGAM2	OMIM:261670
HP:0003011	Abnormality of the musculature	51693	TRAPPC2L	OMIM:618331
HP:0003011	Abnormality of the musculature	1497	CTNS	OMIM:219800
HP:0003011	Abnormality of the musculature	83932	SPRTN	OMIM:616200
HP:0003011	Abnormality of the musculature	4750	NEK1	OMIM:617892
HP:0003011	Abnormality of the musculature	4750	NEK1	ORPHA:803
HP:0003011	Abnormality of the musculature	6772	STAT1	OMIM:614162
HP:0003011	Abnormality of the musculature	340061	STING1	OMIM:615934
HP:0003011	Abnormality of the musculature	374393	FAM111B	OMIM:615704
HP:0003011	Abnormality of the musculature	57167	SALL4	ORPHA:233
HP:0003011	Abnormality of the musculature	1123	CHN1	ORPHA:233
HP:0003011	Abnormality of the musculature	3475	IFRD1	ORPHA:98771
HP:0003011	Abnormality of the musculature	92482	BBIP1	ORPHA:110
HP:0003011	Abnormality of the musculature	11020	IFT27	ORPHA:110
HP:0003011	Abnormality of the musculature	582	BBS1	ORPHA:110
HP:0003011	Abnormality of the musculature	49855	SCAPER	ORPHA:110
HP:0003011	Abnormality of the musculature	51057	WDPCP	ORPHA:110
HP:0003011	Abnormality of the musculature	27241	BBS9	ORPHA:110
HP:0003011	Abnormality of the musculature	84984	CEP19	ORPHA:110
HP:0003011	Abnormality of the musculature	79738	BBS10	ORPHA:110
HP:0003011	Abnormality of the musculature	123016	TTC8	ORPHA:110
HP:0003011	Abnormality of the musculature	26160	IFT172	ORPHA:110
HP:0003011	Abnormality of the musculature	583	BBS2	ORPHA:110
HP:0003011	Abnormality of the musculature	585	BBS4	ORPHA:110
HP:0003011	Abnormality of the musculature	8195	MKKS	ORPHA:110
HP:0003011	Abnormality of the musculature	54585	LZTFL1	ORPHA:110
HP:0003011	Abnormality of the musculature	55212	BBS7	ORPHA:110
HP:0003011	Abnormality of the musculature	166379	BBS12	ORPHA:110
HP:0003011	Abnormality of the musculature	10806	SDCCAG8	ORPHA:110
HP:0003011	Abnormality of the musculature	157657	CFAP418	ORPHA:110
HP:0003011	Abnormality of the musculature	84100	ARL6	ORPHA:110
HP:0003011	Abnormality of the musculature	129880	BBS5	ORPHA:110
HP:0003011	Abnormality of the musculature	54902	TTC19	OMIM:615157
HP:0003011	Abnormality of the musculature	7486	WRN	ORPHA:902
HP:0003011	Abnormality of the musculature	472	ATM	ORPHA:100
HP:0003011	Abnormality of the musculature	23396	PIP5K1C	OMIM:611369
HP:0003011	Abnormality of the musculature	2065	ERBB3	OMIM:607598
HP:0003011	Abnormality of the musculature	25978	CHMP2B	ORPHA:803
HP:0003011	Abnormality of the musculature	8148	TAF15	ORPHA:803
HP:0003011	Abnormality of the musculature	5445	PON2	ORPHA:803
HP:0003011	Abnormality of the musculature	5630	PRPH	ORPHA:803
HP:0003011	Abnormality of the musculature	5630	PRPH	OMIM:105400
HP:0003011	Abnormality of the musculature	55830	GLT8D1	ORPHA:803
HP:0003011	Abnormality of the musculature	755	CFAP410	ORPHA:803
HP:0003011	Abnormality of the musculature	10891	PPARGC1A	ORPHA:803
HP:0003011	Abnormality of the musculature	10133	OPTN	ORPHA:803
HP:0003011	Abnormality of the musculature	5444	PON1	ORPHA:803
HP:0003011	Abnormality of the musculature	5446	PON3	ORPHA:803
HP:0003011	Abnormality of the musculature	5216	PFN1	ORPHA:803
HP:0003011	Abnormality of the musculature	5216	PFN1	OMIM:614808
HP:0003011	Abnormality of the musculature	29978	UBQLN2	ORPHA:803
HP:0003011	Abnormality of the musculature	2043	EPHA4	ORPHA:803
HP:0003011	Abnormality of the musculature	1610	DAO	ORPHA:803
HP:0003011	Abnormality of the musculature	2066	ERBB4	ORPHA:803
HP:0003011	Abnormality of the musculature	23025	UNC13A	ORPHA:803
HP:0003011	Abnormality of the musculature	5837	PYGM	ORPHA:368
HP:0003011	Abnormality of the musculature	160418	TMTC3	OMIM:617255
HP:0003011	Abnormality of the musculature	123606	NIPA1	ORPHA:100988
HP:0003011	Abnormality of the musculature	2778	GNAS	OMIM:219080
HP:0003011	Abnormality of the musculature	10616	RBCK1	OMIM:615895
HP:0003011	Abnormality of the musculature	9101	USP8	OMIM:219090
HP:0003011	Abnormality of the musculature	203228	C9orf72	OMIM:105550
HP:0003011	Abnormality of the musculature	4927	NUP88	OMIM:618393
HP:0003011	Abnormality of the musculature	953	ENTPD1	OMIM:615683
HP:0003011	Abnormality of the musculature	5296	PIK3R2	OMIM:603387
HP:0003011	Abnormality of the musculature	1493	CTLA4	ORPHA:3162
HP:0003011	Abnormality of the musculature	940	CD28	ORPHA:3162
HP:0003011	Abnormality of the musculature	7133	TNFRSF1B	ORPHA:3162
HP:0003011	Abnormality of the musculature	4683	NBN	ORPHA:647
HP:0003011	Abnormality of the musculature	90523	MLIP	OMIM:620138
HP:0003011	Abnormality of the musculature	84992	PIGY	OMIM:616809
HP:0003011	Abnormality of the musculature	5745	PTH1R	OMIM:156400
HP:0003011	Abnormality of the musculature	84068	SLC10A7	OMIM:618363
HP:0003011	Abnormality of the musculature	9453	GGPS1	OMIM:619518
HP:0003011	Abnormality of the musculature	5111	PCNA	OMIM:615919
HP:0003011	Abnormality of the musculature	4221	MEN1	ORPHA:97279
HP:0003011	Abnormality of the musculature	486	FXYD2	OMIM:154020
HP:0003011	Abnormality of the musculature	10058	ABCB6	OMIM:609153
HP:0003011	Abnormality of the musculature	8074	FGF23	OMIM:193100
HP:0003011	Abnormality of the musculature	25953	PNKD	ORPHA:98810
HP:0003011	Abnormality of the musculature	1716	DGUOK	ORPHA:329314
HP:0003011	Abnormality of the musculature	5257	PHKB	ORPHA:79240
HP:0003011	Abnormality of the musculature	84197	POMK	OMIM:616094
HP:0003011	Abnormality of the musculature	11155	LDB3	ORPHA:98912
HP:0003011	Abnormality of the musculature	146862	UNC45B	OMIM:619178
HP:0003011	Abnormality of the musculature	4568	MT-TL2	ORPHA:663
HP:0003011	Abnormality of the musculature	101929726	MYMX	OMIM:619941
HP:0003011	Abnormality of the musculature	131377	KLHL40	ORPHA:171430
HP:0003011	Abnormality of the musculature	4632	MYL1	OMIM:618414
HP:0003011	Abnormality of the musculature	5888	RAD51	ORPHA:238722
HP:0003011	Abnormality of the musculature	10126	DNAL4	ORPHA:238722
HP:0003011	Abnormality of the musculature	9423	NTN1	ORPHA:238722
HP:0003011	Abnormality of the musculature	811	CALR	ORPHA:824
HP:0003011	Abnormality of the musculature	4352	MPL	ORPHA:824
HP:0003011	Abnormality of the musculature	3717	JAK2	ORPHA:824
HP:0003011	Abnormality of the musculature	54790	TET2	ORPHA:824
HP:0003011	Abnormality of the musculature	4780	NFE2L2	OMIM:617744
HP:0003011	Abnormality of the musculature	5573	PRKAR1A	ORPHA:615
HP:0003011	Abnormality of the musculature	7234	TRU-TCA1-1	OMIM:620198
HP:0003011	Abnormality of the musculature	50515	CHST11	OMIM:618167
HP:0003011	Abnormality of the musculature	79572	ATP13A3	OMIM:265400
HP:0003011	Abnormality of the musculature	91452	ACBD5	OMIM:618863
HP:0003011	Abnormality of the musculature	2628	GATM	OMIM:612718
HP:0003011	Abnormality of the musculature	1311	COMP	OMIM:619161
HP:0003011	Abnormality of the musculature	8985	PLOD3	OMIM:612394
HP:0003011	Abnormality of the musculature	8675	STX16	ORPHA:94089
HP:0003011	Abnormality of the musculature	1586	CYP17A1	ORPHA:90793
HP:0003011	Abnormality of the musculature	146206	CARMIL2	OMIM:618131
HP:0003011	Abnormality of the musculature	8659	ALDH4A1	ORPHA:79101
HP:0003011	Abnormality of the musculature	2717	GLA	OMIM:301500
HP:0003011	Abnormality of the musculature	400916	CHCHD10	ORPHA:276435
HP:0003011	Abnormality of the musculature	4558	MT-TF	ORPHA:551
HP:0003011	Abnormality of the musculature	4549	MT-RNR1	ORPHA:551
HP:0003011	Abnormality of the musculature	4575	MT-TS2	ORPHA:551
HP:0003011	Abnormality of the musculature	4571	MT-TP	ORPHA:551
HP:0003011	Abnormality of the musculature	4572	MT-TQ	ORPHA:551
HP:0003011	Abnormality of the musculature	4564	MT-TH	ORPHA:551
HP:0003011	Abnormality of the musculature	9015	TAF1A	ORPHA:154
HP:0003011	Abnormality of the musculature	7112	TMPO	ORPHA:154
HP:0003011	Abnormality of the musculature	9464	HAND2	ORPHA:154
HP:0003011	Abnormality of the musculature	10486	CAP2	ORPHA:154
HP:0003011	Abnormality of the musculature	10060	ABCC9	ORPHA:154
HP:0003011	Abnormality of the musculature	7168	TPM1	ORPHA:154
HP:0003011	Abnormality of the musculature	7414	VCL	ORPHA:154
HP:0003011	Abnormality of the musculature	1832	DSP	ORPHA:154
HP:0003011	Abnormality of the musculature	70	ACTC1	ORPHA:154
HP:0003011	Abnormality of the musculature	27063	ANKRD1	ORPHA:154
HP:0003011	Abnormality of the musculature	8048	CSRP3	ORPHA:154
HP:0003011	Abnormality of the musculature	7139	TNNT2	ORPHA:154
HP:0003011	Abnormality of the musculature	1829	DSG2	ORPHA:154
HP:0003011	Abnormality of the musculature	3910	LAMA4	ORPHA:154
HP:0003011	Abnormality of the musculature	63976	PRDM16	ORPHA:154
HP:0003011	Abnormality of the musculature	10587	TXNRD2	ORPHA:154
HP:0003011	Abnormality of the musculature	5350	PLN	ORPHA:154
HP:0003011	Abnormality of the musculature	91624	NEXN	ORPHA:154
HP:0003011	Abnormality of the musculature	79717	PPCS	ORPHA:154
HP:0003011	Abnormality of the musculature	4624	MYH6	ORPHA:154
HP:0003011	Abnormality of the musculature	9529	BAG5	ORPHA:154
HP:0003011	Abnormality of the musculature	4607	MYBPC3	ORPHA:154
HP:0003011	Abnormality of the musculature	282996	RBM20	ORPHA:154
HP:0003011	Abnormality of the musculature	7137	TNNI3	ORPHA:154
HP:0003011	Abnormality of the musculature	2274	FHL2	ORPHA:154
HP:0003011	Abnormality of the musculature	6901	TAFAZZIN	ORPHA:154
HP:0003011	Abnormality of the musculature	22845	DOLK	ORPHA:154
HP:0003011	Abnormality of the musculature	1756	DMD	ORPHA:154
HP:0003011	Abnormality of the musculature	57798	GATAD1	ORPHA:154
HP:0003011	Abnormality of the musculature	7134	TNNC1	ORPHA:154
HP:0003011	Abnormality of the musculature	6331	SCN5A	ORPHA:154
HP:0003011	Abnormality of the musculature	8557	TCAP	ORPHA:154
HP:0003011	Abnormality of the musculature	9197	SLC33A1	ORPHA:171863
HP:0003011	Abnormality of the musculature	3912	LAMB1	ORPHA:352682
HP:0003011	Abnormality of the musculature	9935	MAFB	ORPHA:2774
HP:0003011	Abnormality of the musculature	22947	DUX4L1	ORPHA:269
HP:0003011	Abnormality of the musculature	100288687	DUX4	ORPHA:269
HP:0003011	Abnormality of the musculature	6566	SLC16A1	OMIM:245340
HP:0003011	Abnormality of the musculature	56997	COQ8A	ORPHA:139485
HP:0003011	Abnormality of the musculature	22954	TRIM32	ORPHA:1878
HP:0003011	Abnormality of the musculature	3908	LAMA2	ORPHA:258
HP:0003011	Abnormality of the musculature	55129	ANO10	ORPHA:284289
HP:0003011	Abnormality of the musculature	4942	OAT	OMIM:258870
HP:0003011	Abnormality of the musculature	51663	ZFR	ORPHA:401840
HP:0003011	Abnormality of the musculature	6253	RTN2	ORPHA:100993
HP:0003011	Abnormality of the musculature	126129	CPT1C	ORPHA:444099
HP:0003011	Abnormality of the musculature	3839	KPNA3	ORPHA:171612
HP:0003011	Abnormality of the musculature	4509	MT-ATP8	ORPHA:480
HP:0003011	Abnormality of the musculature	57562	CEP126	ORPHA:65684
HP:0003011	Abnormality of the musculature	4089	SMAD4	ORPHA:2588
HP:0003011	Abnormality of the musculature	353116	RILPL1	OMIM:619790
HP:0003011	Abnormality of the musculature	6840	SVIL	OMIM:619040
HP:0003011	Abnormality of the musculature	3714	JAG2	OMIM:619566
HP:0003011	Abnormality of the musculature	84466	MEGF10	OMIM:614399
HP:0003011	Abnormality of the musculature	8087	FXR1	OMIM:618822
HP:0003011	Abnormality of the musculature	259232	NALCN	ORPHA:371364
HP:0003011	Abnormality of the musculature	55958	KLHL9	ORPHA:399081
HP:0003011	Abnormality of the musculature	51128	SAR1B	ORPHA:71
HP:0003011	Abnormality of the musculature	3178	HNRNPA1	ORPHA:52430
HP:0003011	Abnormality of the musculature	3181	HNRNPA2B1	ORPHA:52430
HP:0003011	Abnormality of the musculature	51099	ABHD5	ORPHA:98907
HP:0003011	Abnormality of the musculature	7138	TNNT1	ORPHA:98902
HP:0003011	Abnormality of the musculature	226	ALDOA	ORPHA:57
HP:0003011	Abnormality of the musculature	1134	CHRNA1	OMIM:601462
HP:0003011	Abnormality of the musculature	5339	PLEC	ORPHA:257
HP:0003011	Abnormality of the musculature	34	ACADM	ORPHA:42
HP:0003011	Abnormality of the musculature	2673	GFPT1	OMIM:608931
HP:0003011	Abnormality of the musculature	2673	GFPT1	OMIM:610542
HP:0003011	Abnormality of the musculature	2673	GFPT1	ORPHA:353327
HP:0003011	Abnormality of the musculature	1145	CHRNE	OMIM:608931
HP:0003011	Abnormality of the musculature	1145	CHRNE	OMIM:605809
HP:0003011	Abnormality of the musculature	1144	CHRND	OMIM:616322
HP:0003011	Abnormality of the musculature	199857	ALG14	OMIM:616227
HP:0003011	Abnormality of the musculature	199857	ALG14	ORPHA:353327
HP:0003011	Abnormality of the musculature	1103	CHAT	OMIM:254210
HP:0003011	Abnormality of the musculature	1103	CHAT	ORPHA:98914
HP:0003011	Abnormality of the musculature	4593	MUSK	OMIM:616325
HP:0003011	Abnormality of the musculature	85365	ALG2	OMIM:616228
HP:0003011	Abnormality of the musculature	85365	ALG2	ORPHA:353327
HP:0003011	Abnormality of the musculature	844	CASQ1	ORPHA:2593
HP:0003011	Abnormality of the musculature	84876	ORAI1	ORPHA:2593
HP:0003011	Abnormality of the musculature	6786	STIM1	ORPHA:2593
HP:0003011	Abnormality of the musculature	2767	GNA11	ORPHA:428
HP:0003011	Abnormality of the musculature	846	CASR	ORPHA:428
HP:0003011	Abnormality of the musculature	6261	RYR1	ORPHA:424107
HP:0003011	Abnormality of the musculature	60482	SLC5A7	OMIM:617143
HP:0003011	Abnormality of the musculature	60482	SLC5A7	ORPHA:98914
HP:0003011	Abnormality of the musculature	10568	SLC34A2	ORPHA:60025
HP:0003011	Abnormality of the musculature	6329	SCN4A	OMIM:614198
HP:0003011	Abnormality of the musculature	6576	SLC25A1	OMIM:618197
HP:0003011	Abnormality of the musculature	6576	SLC25A1	ORPHA:98914
HP:0003011	Abnormality of the musculature	6616	SNAP25	OMIM:616330
HP:0003011	Abnormality of the musculature	6616	SNAP25	ORPHA:98914
HP:0003011	Abnormality of the musculature	1140	CHRNB1	OMIM:616313
HP:0003011	Abnormality of the musculature	1798	DPAGT1	OMIM:614750
HP:0003011	Abnormality of the musculature	1798	DPAGT1	ORPHA:353327
HP:0003011	Abnormality of the musculature	4649	MYO9A	ORPHA:98914
HP:0003011	Abnormality of the musculature	1305	COL13A1	ORPHA:98914
HP:0003011	Abnormality of the musculature	6843	VAMP1	ORPHA:98914
HP:0003011	Abnormality of the musculature	375790	AGRN	ORPHA:98914
HP:0003011	Abnormality of the musculature	127833	SYT2	ORPHA:98914
HP:0003011	Abnormality of the musculature	6572	SLC18A3	ORPHA:98914
HP:0003011	Abnormality of the musculature	28976	ACAD9	ORPHA:99901
HP:0003011	Abnormality of the musculature	8292	COLQ	OMIM:603034
HP:0003011	Abnormality of the musculature	285489	DOK7	OMIM:254300
HP:0003011	Abnormality of the musculature	29925	GMPPB	ORPHA:353327
HP:0003011	Abnormality of the musculature	80208	SPG11	ORPHA:2822
HP:0003011	Abnormality of the musculature	5165	PDK3	ORPHA:352675
HP:0003011	Abnormality of the musculature	1593	CYP27A1	OMIM:213700
HP:0003011	Abnormality of the musculature	23400	ATP13A2	ORPHA:513436
HP:0003011	Abnormality of the musculature	203859	ANO5	ORPHA:206549
HP:0003011	Abnormality of the musculature	6445	SGCG	ORPHA:353
HP:0003011	Abnormality of the musculature	4000	LMNA	OMIM:605588
HP:0003011	Abnormality of the musculature	4000	LMNA	OMIM:613205
HP:0003011	Abnormality of the musculature	91574	MTRFR	ORPHA:254930
HP:0003011	Abnormality of the musculature	91574	MTRFR	ORPHA:320375
HP:0003011	Abnormality of the musculature	1789	DNMT3B	OMIM:619478
HP:0003011	Abnormality of the musculature	9420	CYP7B1	ORPHA:100986
HP:0003011	Abnormality of the musculature	9420	CYP7B1	OMIM:270800
HP:0003011	Abnormality of the musculature	4744	NEFH	OMIM:616924
HP:0003011	Abnormality of the musculature	4747	NEFL	ORPHA:99939
HP:0003011	Abnormality of the musculature	26580	BSCL2	ORPHA:139536
HP:0003011	Abnormality of the musculature	65055	REEP1	ORPHA:139536
HP:0003011	Abnormality of the musculature	8314	BAP1	ORPHA:2495
HP:0003011	Abnormality of the musculature	4771	NF2	ORPHA:2495
HP:0003011	Abnormality of the musculature	6598	SMARCB1	ORPHA:2495
HP:0003011	Abnormality of the musculature	5155	PDGFB	ORPHA:2495
HP:0003011	Abnormality of the musculature	84231	TRAF7	ORPHA:2495
HP:0003011	Abnormality of the musculature	6608	SMO	ORPHA:2495
HP:0003011	Abnormality of the musculature	207	AKT1	ORPHA:2495
HP:0003011	Abnormality of the musculature	7015	TERT	ORPHA:2495
HP:0003011	Abnormality of the musculature	51684	SUFU	ORPHA:2495
HP:0003011	Abnormality of the musculature	6605	SMARCE1	ORPHA:2495
HP:0003011	Abnormality of the musculature	6687	SPG7	ORPHA:99013
HP:0003011	Abnormality of the musculature	6687	SPG7	OMIM:607259
HP:0003011	Abnormality of the musculature	1959	EGR2	OMIM:607678
HP:0003011	Abnormality of the musculature	1959	EGR2	OMIM:605253
HP:0003011	Abnormality of the musculature	4359	MPZ	OMIM:607677
HP:0003011	Abnormality of the musculature	4359	MPZ	OMIM:607791
HP:0003011	Abnormality of the musculature	2581	GALC	ORPHA:206443
HP:0003011	Abnormality of the musculature	2581	GALC	ORPHA:206448
HP:0003011	Abnormality of the musculature	6305	SBF1	OMIM:615284
HP:0003011	Abnormality of the musculature	3074	HEXB	ORPHA:309169
HP:0003011	Abnormality of the musculature	8566	PDXK	OMIM:618511
HP:0003011	Abnormality of the musculature	10342	TFG	ORPHA:90117
HP:0003011	Abnormality of the musculature	8565	YARS1	OMIM:608323
HP:0003011	Abnormality of the musculature	4038	LRP4	ORPHA:98913
HP:0003011	Abnormality of the musculature	5913	RAPSN	ORPHA:98913
HP:0003011	Abnormality of the musculature	221264	AK9	ORPHA:98913
HP:0003011	Abnormality of the musculature	5456	POU3F4	ORPHA:1435
HP:0003011	Abnormality of the musculature	7428	VHL	ORPHA:892
HP:0003011	Abnormality of the musculature	595	CCND1	ORPHA:892
HP:0003011	Abnormality of the musculature	4508	MT-ATP6	ORPHA:225154
HP:0003011	Abnormality of the musculature	23636	NUP62	ORPHA:225154
HP:0003011	Abnormality of the musculature	103	ADAR	ORPHA:225154
HP:0003011	Abnormality of the musculature	55681	SCYL2	ORPHA:1143
HP:0003011	Abnormality of the musculature	84570	COL25A1	ORPHA:1143
HP:0003011	Abnormality of the musculature	57222	ERGIC1	ORPHA:1143
HP:0003011	Abnormality of the musculature	79628	SH3TC2	OMIM:601596
HP:0003011	Abnormality of the musculature	2992	GYG1	ORPHA:263297
HP:0003011	Abnormality of the musculature	23503	ZFYVE26	ORPHA:100996
HP:0003011	Abnormality of the musculature	10667	FARS2	OMIM:617046
HP:0003011	Abnormality of the musculature	3508	IGHMBP2	OMIM:616155
HP:0003011	Abnormality of the musculature	80199	FUZ	ORPHA:1136
HP:0003011	Abnormality of the musculature	2583	B4GALNT1	OMIM:609195
HP:0003011	Abnormality of the musculature	121512	FGD4	OMIM:609311
HP:0003011	Abnormality of the musculature	54332	GDAP1	OMIM:608340
HP:0003011	Abnormality of the musculature	9987	HNRNPDL	OMIM:609115
HP:0003011	Abnormality of the musculature	26092	TOR1AIP1	OMIM:617072
HP:0003011	Abnormality of the musculature	3991	LIPE	OMIM:615980
HP:0003011	Abnormality of the musculature	37	ACADVL	OMIM:201475
HP:0003011	Abnormality of the musculature	84909	AOPEP	OMIM:619565
HP:0003011	Abnormality of the musculature	5575	PRKAR1B	ORPHA:412066
HP:0003011	Abnormality of the musculature	3939	LDHA	OMIM:612933
HP:0003011	Abnormality of the musculature	7132	TNFRSF1A	OMIM:142680
HP:0003011	Abnormality of the musculature	51308	REEP2	OMIM:615625
HP:0003011	Abnormality of the musculature	284119	CAVIN1	OMIM:613327
HP:0003011	Abnormality of the musculature	23175	LPIN1	ORPHA:99845
HP:0003011	Abnormality of the musculature	4512	MT-CO1	ORPHA:99845
HP:0003011	Abnormality of the musculature	4514	MT-CO3	ORPHA:99845
HP:0003011	Abnormality of the musculature	54938	SARS2	OMIM:613845
HP:0003011	Abnormality of the musculature	7148	TNXB	OMIM:606408
HP:0003011	Abnormality of the musculature	51776	MAP3K20	OMIM:617760
HP:0003011	Abnormality of the musculature	2318	FLNC	OMIM:609524
HP:0003011	Abnormality of the musculature	64208	POPDC3	OMIM:618848
HP:0003011	Abnormality of the musculature	79042	TSEN34	ORPHA:2524
HP:0003011	Abnormality of the musculature	190	NR0B1	OMIM:300200
HP:0003011	Abnormality of the musculature	2710	GK	OMIM:307030
HP:0003011	Abnormality of the musculature	54344	DPM3	OMIM:618992
HP:0003011	Abnormality of the musculature	51204	TACO1	OMIM:619052
HP:0003011	Abnormality of the musculature	28958	COA3	OMIM:619058
HP:0003011	Abnormality of the musculature	65080	MRPL44	OMIM:615395
HP:0003011	Abnormality of the musculature	57505	AARS2	OMIM:614096
HP:0003011	Abnormality of the musculature	57505	AARS2	OMIM:615889
HP:0003011	Abnormality of the musculature	4697	NDUFA4	OMIM:619065
HP:0003011	Abnormality of the musculature	51067	YARS2	OMIM:613561
HP:0003011	Abnormality of the musculature	125170	MIEF2	OMIM:619024
HP:0003011	Abnormality of the musculature	84705	GTPBP3	OMIM:616198
HP:0003011	Abnormality of the musculature	92667	MGME1	OMIM:615084
HP:0003011	Abnormality of the musculature	3980	LIG3	OMIM:619780
HP:0003011	Abnormality of the musculature	246243	RNASEH1	ORPHA:329336
HP:0003011	Abnormality of the musculature	2548	GAA	OMIM:232300
HP:0003011	Abnormality of the musculature	1778	DYNC1H1	OMIM:614228
HP:0003011	Abnormality of the musculature	5191	PEX7	OMIM:266500
HP:0003011	Abnormality of the musculature	5264	PHYH	OMIM:266500
HP:0003011	Abnormality of the musculature	11149	BVES	OMIM:616812
HP:0003011	Abnormality of the musculature	540	ATP7B	OMIM:277900
HP:0003011	Abnormality of the musculature	270	AMPD1	ORPHA:45
HP:0003011	Abnormality of the musculature	272	AMPD3	ORPHA:45
HP:0003011	Abnormality of the musculature	3920	LAMP2	OMIM:300257
HP:0003011	Abnormality of the musculature	1073	CFL2	OMIM:610687
HP:0003011	Abnormality of the musculature	686	BTD	ORPHA:79241
HP:0003011	Abnormality of the musculature	5351	PLOD1	ORPHA:1900
HP:0003011	Abnormality of the musculature	899	CCNF	OMIM:619141
HP:0003011	Abnormality of the musculature	4507	MTAP	OMIM:112250
HP:0003011	Abnormality of the musculature	367	AR	OMIM:313200
HP:0003011	Abnormality of the musculature	9990	SLC12A6	OMIM:218000
HP:0003011	Abnormality of the musculature	79912	PYROXD1	OMIM:617258
HP:0003011	Abnormality of the musculature	9820	CUL7	ORPHA:2616
HP:0003011	Abnormality of the musculature	9820	CUL7	OMIM:273750
HP:0003011	Abnormality of the musculature	23363	OBSL1	ORPHA:2616
HP:0003011	Abnormality of the musculature	23363	OBSL1	OMIM:612921
HP:0003011	Abnormality of the musculature	83987	CCDC8	ORPHA:2616
HP:0003011	Abnormality of the musculature	825	CAPN3	OMIM:253600
HP:0003011	Abnormality of the musculature	825	CAPN3	ORPHA:267
HP:0003011	Abnormality of the musculature	825	CAPN3	OMIM:618129
HP:0003011	Abnormality of the musculature	6442	SGCA	OMIM:608099
HP:0003011	Abnormality of the musculature	6442	SGCA	ORPHA:62
HP:0003011	Abnormality of the musculature	55790	CSGALNACT1	OMIM:618870
HP:0003011	Abnormality of the musculature	6443	SGCB	OMIM:604286
HP:0003011	Abnormality of the musculature	25778	DSTYK	OMIM:270750
HP:0003011	Abnormality of the musculature	6444	SGCD	OMIM:601287
HP:0003011	Abnormality of the musculature	6444	SGCD	ORPHA:219
HP:0003011	Abnormality of the musculature	2483	FRG1	OMIM:158900
HP:0003011	Abnormality of the musculature	23347	SMCHD1	OMIM:158901
HP:0003011	Abnormality of the musculature	55870	ASH1L	OMIM:617796
HP:0003011	Abnormality of the musculature	8878	SQSTM1	OMIM:617158
HP:0003011	Abnormality of the musculature	64856	VWA1	OMIM:619216
HP:0003011	Abnormality of the musculature	311	ANXA11	OMIM:619733
HP:0003011	Abnormality of the musculature	4604	MYBPC1	OMIM:618524
HP:0003011	Abnormality of the musculature	3759	KCNJ2	OMIM:170390
HP:0003011	Abnormality of the musculature	5077	PAX3	OMIM:148820
HP:0003011	Abnormality of the musculature	200734	SPRED2	OMIM:619745
HP:0003011	Abnormality of the musculature	9531	BAG3	OMIM:612954
HP:0003011	Abnormality of the musculature	2200	FBN1	OMIM:616914
HP:0003011	Abnormality of the musculature	55791	LRIF1	OMIM:619477
HP:0003011	Abnormality of the musculature	5781	PTPN11	ORPHA:500
HP:0003011	Abnormality of the musculature	5781	PTPN11	OMIM:151100
HP:0003011	Abnormality of the musculature	5894	RAF1	ORPHA:500
HP:0003011	Abnormality of the musculature	7204	TRIO	OMIM:617061
HP:0003011	Abnormality of the musculature	10220	GDF11	OMIM:619122
HP:0003011	Abnormality of the musculature	163175	LGI4	OMIM:617468
HP:0003011	Abnormality of the musculature	3913	LAMB2	ORPHA:98915
HP:0003011	Abnormality of the musculature	23299	BICD2	OMIM:615290
HP:0003011	Abnormality of the musculature	11117	EMILIN1	OMIM:620080
HP:0003011	Abnormality of the musculature	56983	POGLUT1	OMIM:617232
HP:0003011	Abnormality of the musculature	57479	PRR12	OMIM:619539
HP:0003011	Abnormality of the musculature	2317	FLNB	OMIM:272460
HP:0003011	Abnormality of the musculature	23676	SMPX	OMIM:301075
HP:0003011	Abnormality of the musculature	7043	TGFB3	OMIM:615582
HP:0003011	Abnormality of the musculature	10801	SEPTIN9	ORPHA:2901
HP:0003011	Abnormality of the musculature	23534	TNPO3	OMIM:608423
HP:0003011	Abnormality of the musculature	23064	SETX	OMIM:602433
HP:0003011	Abnormality of the musculature	23064	SETX	OMIM:606002
HP:0003011	Abnormality of the musculature	10749	KIF1C	ORPHA:397946
HP:0003011	Abnormality of the musculature	10749	KIF1C	OMIM:611302
HP:0003011	Abnormality of the musculature	7072	TIA1	OMIM:604454
HP:0003011	Abnormality of the musculature	4141	MARS1	OMIM:616280
HP:0003011	Abnormality of the musculature	23769	FLRT1	ORPHA:320406
HP:0003011	Abnormality of the musculature	64837	KLC2	ORPHA:320406
HP:0003011	Abnormality of the musculature	64837	KLC2	OMIM:609541
HP:0003011	Abnormality of the musculature	4287	ATXN3	OMIM:109150
HP:0003011	Abnormality of the musculature	112	ADCY6	OMIM:616287
HP:0003011	Abnormality of the musculature	50717	DCAF8	OMIM:610100
HP:0003011	Abnormality of the musculature	19	ABCA1	OMIM:205400
HP:0003011	Abnormality of the musculature	7415	VCP	OMIM:167320
HP:0003011	Abnormality of the musculature	7415	VCP	ORPHA:435387
HP:0003011	Abnormality of the musculature	55775	TDP1	ORPHA:94124
HP:0003011	Abnormality of the musculature	55775	TDP1	OMIM:607250
HP:0003011	Abnormality of the musculature	10516	FBLN5	OMIM:608895
HP:0003011	Abnormality of the musculature	7879	RAB7A	OMIM:600882
HP:0003011	Abnormality of the musculature	200205	IBA57	ORPHA:468661
HP:0003011	Abnormality of the musculature	56704	JPH1	OMIM:607831
HP:0003011	Abnormality of the musculature	10397	NDRG1	OMIM:601455
HP:0003011	Abnormality of the musculature	55187	VPS13D	OMIM:607317
HP:0003011	Abnormality of the musculature	80347	COASY	OMIM:615643
HP:0003011	Abnormality of the musculature	90678	LRSAM1	OMIM:614436
HP:0003011	Abnormality of the musculature	10908	PNPLA6	OMIM:275400
HP:0003011	Abnormality of the musculature	10908	PNPLA6	OMIM:612020
HP:0003011	Abnormality of the musculature	10908	PNPLA6	OMIM:215470
HP:0003011	Abnormality of the musculature	81846	SBF2	OMIM:604563
HP:0003011	Abnormality of the musculature	4358	MPV17	OMIM:618400
HP:0003011	Abnormality of the musculature	122622	ADSS1	OMIM:617030
HP:0003011	Abnormality of the musculature	4704	NDUFA9	OMIM:618247
HP:0003011	Abnormality of the musculature	5631	PRPS1	OMIM:311070
HP:0003011	Abnormality of the musculature	3035	HARS1	OMIM:616625
HP:0003011	Abnormality of the musculature	29967	LRP12	OMIM:164310
HP:0003011	Abnormality of the musculature	10939	AFG3L2	ORPHA:313772
HP:0003011	Abnormality of the musculature	10939	AFG3L2	OMIM:614487
HP:0003011	Abnormality of the musculature	9217	VAPB	OMIM:608627
HP:0003011	Abnormality of the musculature	9217	VAPB	OMIM:182980
HP:0003011	Abnormality of the musculature	26278	SACS	ORPHA:98
HP:0003011	Abnormality of the musculature	26278	SACS	OMIM:270550
HP:0003011	Abnormality of the musculature	51651	PTRH2	ORPHA:456312
HP:0003011	Abnormality of the musculature	84892	POMGNT2	OMIM:618135
HP:0003011	Abnormality of the musculature	83636	C19orf12	OMIM:614298
HP:0003011	Abnormality of the musculature	83636	C19orf12	OMIM:615043
HP:0003011	Abnormality of the musculature	26090	ABHD12	OMIM:612674
HP:0003011	Abnormality of the musculature	54840	APTX	OMIM:208920
HP:0003011	Abnormality of the musculature	89874	SLC25A21	OMIM:618811
HP:0003011	Abnormality of the musculature	25923	ATL3	ORPHA:36386
HP:0003011	Abnormality of the musculature	9517	SPTLC2	ORPHA:36386
HP:0003011	Abnormality of the musculature	51062	ATL1	ORPHA:36386
HP:0003011	Abnormality of the musculature	11284	PNKP	OMIM:605589
HP:0003011	Abnormality of the musculature	81857	MED25	OMIM:605589
HP:0003011	Abnormality of the musculature	65260	COA7	OMIM:618387
HP:0003011	Abnormality of the musculature	5255	PHKA1	OMIM:300559
HP:0003011	Abnormality of the musculature	22948	CCT5	ORPHA:139578
HP:0003011	Abnormality of the musculature	22948	CCT5	OMIM:256840
HP:0003011	Abnormality of the musculature	57863	CADM3	OMIM:619519
HP:0003011	Abnormality of the musculature	1890	TYMP	OMIM:603041
HP:0003011	Abnormality of the musculature	1639	DCTN1	OMIM:607641
HP:0003011	Abnormality of the musculature	6607	SMN2	OMIM:253400
HP:0003011	Abnormality of the musculature	8898	MTMR2	OMIM:601382
HP:0003011	Abnormality of the musculature	55210	ATAD3A	OMIM:617183
HP:0003011	Abnormality of the musculature	26137	ZBTB20	OMIM:259050
HP:0003011	Abnormality of the musculature	476	ATP1A1	OMIM:618036
HP:0003011	Abnormality of the musculature	5375	PMP2	OMIM:618279
HP:0003011	Abnormality of the musculature	23095	KIF1B	OMIM:118210
HP:0003011	Abnormality of the musculature	5192	PEX10	OMIM:614871
HP:0003011	Abnormality of the musculature	11261	CHP1	OMIM:618438
HP:0003011	Abnormality of the musculature	5832	ALDH18A1	OMIM:219150
HP:0003011	Abnormality of the musculature	7443	VRK1	OMIM:607596
HP:0003011	Abnormality of the musculature	9516	LITAF	OMIM:601098
HP:0003011	Abnormality of the musculature	178	AGL	OMIM:232400
HP:0003011	Abnormality of the musculature	10273	STUB1	ORPHA:412057
HP:0003011	Abnormality of the musculature	283	ANG	OMIM:611895
HP:0003011	Abnormality of the musculature	79784	MYH14	OMIM:614369
HP:0003011	Abnormality of the musculature	23533	PIK3R5	OMIM:615217
HP:0003011	Abnormality of the musculature	26353	HSPB8	OMIM:608673
HP:0003011	Abnormality of the musculature	3098	HK1	ORPHA:99953
HP:0003011	Abnormality of the musculature	57716	PRX	OMIM:614895
HP:0003011	Abnormality of the musculature	57716	PRX	OMIM:145900
HP:0003011	Abnormality of the musculature	8729	GBF1	OMIM:606483
HP:0003011	Abnormality of the musculature	1674	DES	OMIM:601419
HP:0003011	Abnormality of the musculature	57449	PLEKHG5	OMIM:611067
HP:0003011	Abnormality of the musculature	339855	KY	ORPHA:496689
HP:0003011	Abnormality of the musculature	142680	SLC34A3	OMIM:241530
HP:0003011	Abnormality of the musculature	2055	CLN8	ORPHA:1947
HP:0003011	Abnormality of the musculature	9499	MYOT	ORPHA:266
HP:0003011	Abnormality of the musculature	492	ATP2B3	OMIM:302500
HP:0003011	Abnormality of the musculature	84188	FAR1	ORPHA:438178
HP:0003011	Abnormality of the musculature	8291	DYSF	ORPHA:45448
HP:0003011	Abnormality of the musculature	54808	DYM	ORPHA:239
HP:0003011	Abnormality of the musculature	2859	GPR35	ORPHA:171
HP:0003011	Abnormality of the musculature	10507	SEMA4D	ORPHA:171
HP:0003011	Abnormality of the musculature	4485	MST1	ORPHA:171
HP:0003011	Abnormality of the musculature	10345	TRDN	OMIM:615441
HP:0003011	Abnormality of the musculature	6473	SHOX	OMIM:127300
HP:0003011	Abnormality of the musculature	6473	SHOX	ORPHA:314795
HP:0003011	Abnormality of the musculature	2660	MSTN	OMIM:614160
HP:0003011	Abnormality of the musculature	372	ARCN1	OMIM:617164
HP:0003011	Abnormality of the musculature	7156	TOP3A	OMIM:618098
HP:0003011	Abnormality of the musculature	29958	DMGDH	ORPHA:243343
HP:0003011	Abnormality of the musculature	29958	DMGDH	OMIM:605850
HP:0003011	Abnormality of the musculature	866	SERPINA6	OMIM:611489
HP:0003011	Abnormality of the musculature	3762	KCNJ5	ORPHA:37553
HP:0003011	Abnormality of the musculature	9401	RECQL4	ORPHA:221016
HP:0003011	Abnormality of the musculature	2591	GALNT3	OMIM:211900
HP:0003011	Abnormality of the musculature	54809	SAMD9	OMIM:610455
HP:0003011	Abnormality of the musculature	189	AGXT	ORPHA:93598
HP:0003011	Abnormality of the musculature	64682	ANAPC1	ORPHA:221008
HP:0003011	Abnormality of the musculature	6683	SPAST	ORPHA:100985
HP:0003011	Abnormality of the musculature	1161	ERCC8	ORPHA:90324
HP:0003011	Abnormality of the musculature	8676	STX11	ORPHA:540
HP:0003011	Abnormality of the musculature	201294	UNC13D	ORPHA:540
HP:0003011	Abnormality of the musculature	6813	STXBP2	ORPHA:540
HP:0003011	Abnormality of the musculature	22854	NTNG1	ORPHA:3095
HP:0003011	Abnormality of the musculature	4204	MECP2	ORPHA:3095
HP:0003011	Abnormality of the musculature	56947	MFF	ORPHA:485421
HP:0003011	Abnormality of the musculature	2050	EPHB4	ORPHA:137667
HP:0003011	Abnormality of the musculature	5921	RASA1	ORPHA:137667
HP:0003011	Abnormality of the musculature	10000	AKT3	ORPHA:99802
HP:0003011	Abnormality of the musculature	440193	CCDC88C	ORPHA:423275
HP:0003011	Abnormality of the musculature	4948	OCA2	ORPHA:98794
HP:0003011	Abnormality of the musculature	427	ASAH1	ORPHA:2590
HP:0003011	Abnormality of the musculature	210	ALAD	ORPHA:100924
HP:0003011	Abnormality of the musculature	215	ABCD1	ORPHA:139399
HP:0003011	Abnormality of the musculature	215	ABCD1	ORPHA:139396
HP:0003011	Abnormality of the musculature	2911	GRM1	ORPHA:324262
HP:0003011	Abnormality of the musculature	79184	BRCC3	ORPHA:280679
HP:0003011	Abnormality of the musculature	54539	NDUFB11	ORPHA:2556
HP:0003011	Abnormality of the musculature	1349	COX7B	ORPHA:2556
HP:0003011	Abnormality of the musculature	3052	HCCS	ORPHA:2556
HP:0003011	Abnormality of the musculature	2131	EXT1	ORPHA:321
HP:0003011	Abnormality of the musculature	2132	EXT2	ORPHA:321
HP:0003011	Abnormality of the musculature	4914	NTRK1	ORPHA:642
HP:0003011	Abnormality of the musculature	5354	PLP1	ORPHA:280210
HP:0003011	Abnormality of the musculature	57338	JPH3	ORPHA:98934
HP:0003011	Abnormality of the musculature	7187	TRAF3	ORPHA:1930
HP:0003011	Abnormality of the musculature	81622	UNC93B1	ORPHA:1930
HP:0003011	Abnormality of the musculature	148022	TICAM1	ORPHA:1930
HP:0003011	Abnormality of the musculature	7098	TLR3	ORPHA:1930
HP:0003011	Abnormality of the musculature	29110	TBK1	ORPHA:1930
HP:0003011	Abnormality of the musculature	10049	DNAJB6	ORPHA:34516
HP:0003011	Abnormality of the musculature	779	CACNA1S	ORPHA:681
HP:0003011	Abnormality of the musculature	779	CACNA1S	ORPHA:79102
HP:0003011	Abnormality of the musculature	10008	KCNE3	ORPHA:681
HP:0003011	Abnormality of the musculature	8106	PABPN1	ORPHA:270
HP:0003011	Abnormality of the musculature	2737	GLI3	OMIM:175700
HP:0003011	Abnormality of the musculature	859	CAV3	OMIM:123320
HP:0003011	Abnormality of the musculature	100134444	KCNJ18	ORPHA:79102
HP:0003011	Abnormality of the musculature	2556	GABRA3	ORPHA:79102
HP:0003011	Abnormality of the musculature	10992	SF3B2	OMIM:164210
HP:0003011	Abnormality of the musculature	1131	CHRM3	ORPHA:2970
HP:0003011	Abnormality of the musculature	1131	CHRM3	OMIM:100100
HP:0003011	Abnormality of the musculature	78989	COLEC11	OMIM:265050
HP:0003011	Abnormality of the musculature	8092	ALX1	ORPHA:306542
HP:0003011	Abnormality of the musculature	7136	TNNI2	OMIM:601680
HP:0003011	Abnormality of the musculature	84340	GFM2	ORPHA:565624
HP:0003011	Abnormality of the musculature	60386	SLC25A19	OMIM:613710
HP:0003011	Abnormality of the musculature	80232	WDR26	ORPHA:513456
HP:0003011	Abnormality of the musculature	3767	KCNJ11	ORPHA:99885
HP:0003011	Abnormality of the musculature	6774	STAT3	ORPHA:99885
HP:0003011	Abnormality of the musculature	2645	GCK	ORPHA:99885
HP:0003011	Abnormality of the musculature	3651	PDX1	ORPHA:99885
HP:0003011	Abnormality of the musculature	3630	INS	ORPHA:99885
HP:0003011	Abnormality of the musculature	9373	PLAA	ORPHA:521426
HP:0003011	Abnormality of the musculature	9373	PLAA	OMIM:617527
HP:0003011	Abnormality of the musculature	1193	CLIC2	ORPHA:324410
HP:0003011	Abnormality of the musculature	64127	NOD2	OMIM:186580
HP:0003011	Abnormality of the musculature	23102	TBC1D2B	OMIM:619323
HP:0003011	Abnormality of the musculature	118429	ANTXR2	ORPHA:2028
HP:0003011	Abnormality of the musculature	118429	ANTXR2	OMIM:228600
HP:0003011	Abnormality of the musculature	4929	NR4A2	ORPHA:98808
HP:0003011	Abnormality of the musculature	3615	IMPDH2	ORPHA:98808
HP:0003011	Abnormality of the musculature	6857	SYT1	ORPHA:522077
HP:0003011	Abnormality of the musculature	157570	ESCO2	ORPHA:3103
HP:0003011	Abnormality of the musculature	2201	FBN2	OMIM:121050
HP:0003011	Abnormality of the musculature	10216	PRG4	OMIM:208250
HP:0003011	Abnormality of the musculature	113179	ADAT3	ORPHA:363528
HP:0003011	Abnormality of the musculature	9573	GDF3	ORPHA:2345
HP:0003011	Abnormality of the musculature	392255	GDF6	ORPHA:2345
HP:0003011	Abnormality of the musculature	392255	GDF6	OMIM:118100
HP:0003011	Abnormality of the musculature	4222	MEOX1	ORPHA:2345
HP:0003011	Abnormality of the musculature	4621	MYH3	OMIM:193700
HP:0003011	Abnormality of the musculature	10804	GJB6	ORPHA:477
HP:0003011	Abnormality of the musculature	2706	GJB2	ORPHA:477
HP:0003011	Abnormality of the musculature	2706	GJB2	OMIM:148210
HP:0003011	Abnormality of the musculature	2222	FDFT1	OMIM:618156
HP:0003011	Abnormality of the musculature	60681	FKBP10	OMIM:259450
HP:0003011	Abnormality of the musculature	4773	NFATC2	OMIM:620232
HP:0003011	Abnormality of the musculature	5002	SLC22A18	OMIM:268210
HP:0003011	Abnormality of the musculature	23405	DICER1	OMIM:180295
HP:0003011	Abnormality of the musculature	2308	FOXO1	OMIM:268220
HP:0003011	Abnormality of the musculature	9817	KEAP1	ORPHA:276399
HP:0003011	Abnormality of the musculature	23312	DMXL2	OMIM:618663
HP:0003011	Abnormality of the musculature	3704	ITPA	OMIM:616647
HP:0003011	Abnormality of the musculature	51244	CCDC174	OMIM:616816
HP:0003011	Abnormality of the musculature	93627	TBCK	OMIM:616900
HP:0003011	Abnormality of the musculature	93627	TBCK	ORPHA:488632
HP:0003011	Abnormality of the musculature	6507	SLC1A3	OMIM:612656
HP:0003011	Abnormality of the musculature	6904	TBCD	OMIM:617193
HP:0003011	Abnormality of the musculature	23259	DDHD2	OMIM:615033
HP:0003011	Abnormality of the musculature	85465	SELENOI	OMIM:618768
HP:0003011	Abnormality of the musculature	57704	GBA2	OMIM:614409
HP:0003011	Abnormality of the musculature	57704	GBA2	ORPHA:320391
HP:0003011	Abnormality of the musculature	2521	FUS	ORPHA:300605
HP:0003011	Abnormality of the musculature	10280	SIGMAR1	ORPHA:300605
HP:0003011	Abnormality of the musculature	10558	SPTLC1	ORPHA:300605
HP:0003011	Abnormality of the musculature	81790	RNF170	OMIM:619686
HP:0003011	Abnormality of the musculature	51271	UBAP1	OMIM:618418
HP:0003011	Abnormality of the musculature	57165	GJC2	OMIM:613206
HP:0003011	Abnormality of the musculature	6304	SATB1	OMIM:619229
HP:0003011	Abnormality of the musculature	57156	TMEM63C	OMIM:619966
HP:0003011	Abnormality of the musculature	57187	THOC2	ORPHA:457240
HP:0003011	Abnormality of the musculature	220296	HEPACAM	OMIM:613925
HP:0003011	Abnormality of the musculature	1201	CLN3	ORPHA:228346
HP:0003011	Abnormality of the musculature	5566	PRKACA	ORPHA:189439
HP:0003011	Abnormality of the musculature	50940	PDE11A	ORPHA:189439
HP:0003011	Abnormality of the musculature	79798	ARMC5	ORPHA:189427
HP:0003011	Abnormality of the musculature	8600	TNFSF11	OMIM:259710
HP:0003011	Abnormality of the musculature	2313	FLI1	ORPHA:370348
HP:0003011	Abnormality of the musculature	2972	BRF1	ORPHA:444072
HP:0003011	Abnormality of the musculature	79932	KIAA0319L	ORPHA:220402
HP:0003011	Abnormality of the musculature	5138	PDE2A	OMIM:619150
HP:0003011	Abnormality of the musculature	347734	SLC35B2	OMIM:620269
HP:0003011	Abnormality of the musculature	80222	TARS2	OMIM:615918
HP:0003011	Abnormality of the musculature	10565	ARFGEF1	OMIM:619964
HP:0003011	Abnormality of the musculature	25839	COG4	ORPHA:263501
HP:0003011	Abnormality of the musculature	25839	COG4	OMIM:613489
HP:0003011	Abnormality of the musculature	6844	VAMP2	OMIM:618760
HP:0003011	Abnormality of the musculature	5095	PCCA	OMIM:606054
HP:0003011	Abnormality of the musculature	5096	PCCB	OMIM:606054
HP:0003011	Abnormality of the musculature	10087	CERT1	OMIM:616351
HP:0003011	Abnormality of the musculature	7701	ZNF142	OMIM:618425
HP:0003011	Abnormality of the musculature	5700	PSMC1	OMIM:620071
HP:0003011	Abnormality of the musculature	23261	CAMTA1	OMIM:614756
HP:0003011	Abnormality of the musculature	55739	NAXD	OMIM:618321
HP:0003011	Abnormality of the musculature	197322	ACSF3	ORPHA:289504
HP:0003011	Abnormality of the musculature	10533	ATG7	OMIM:619422
HP:0003011	Abnormality of the musculature	56160	NSMCE3	OMIM:617241
HP:0003011	Abnormality of the musculature	51025	PAM16	OMIM:613320
HP:0003011	Abnormality of the musculature	1644	DDC	OMIM:608643
HP:0003011	Abnormality of the musculature	2664	GDI1	OMIM:300849
HP:0003011	Abnormality of the musculature	1000	CDH2	OMIM:618929
HP:0003011	Abnormality of the musculature	84668	HYCC1	OMIM:610532
HP:0003011	Abnormality of the musculature	7074	TIAM1	OMIM:619908
HP:0003011	Abnormality of the musculature	374354	NHLRC2	OMIM:618278
HP:0003011	Abnormality of the musculature	6182	MRPL12	OMIM:618951
HP:0003011	Abnormality of the musculature	440	ASNS	OMIM:615574
HP:0003011	Abnormality of the musculature	777	CACNA1E	OMIM:618285
HP:0003011	Abnormality of the musculature	51294	PCDH12	OMIM:251280
HP:0003011	Abnormality of the musculature	9150	CTDP1	OMIM:604168
HP:0003011	Abnormality of the musculature	9150	CTDP1	ORPHA:48431
HP:0003011	Abnormality of the musculature	3852	KRT5	ORPHA:79396
HP:0003011	Abnormality of the musculature	3861	KRT14	ORPHA:79396
HP:0003011	Abnormality of the musculature	6477	SIAH1	OMIM:619314
HP:0003011	Abnormality of the musculature	283120	H19	ORPHA:231144
HP:0003011	Abnormality of the musculature	1363	CPE	OMIM:619326
HP:0003011	Abnormality of the musculature	55780	ERMARD	ORPHA:75857
HP:0003011	Abnormality of the musculature	1757	SARDH	ORPHA:3129
HP:0003011	Abnormality of the musculature	54658	UGT1A1	ORPHA:79234
HP:0003011	Abnormality of the musculature	57107	PDSS2	ORPHA:255249
HP:0003011	Abnormality of the musculature	8218	CLTCL1	ORPHA:453510
HP:0003011	Abnormality of the musculature	162417	NAGS	ORPHA:927
HP:0003011	Abnormality of the musculature	57194	ATP10A	ORPHA:411515
HP:0003011	Abnormality of the musculature	9939	RBM8A	OMIM:274000
HP:0003011	Abnormality of the musculature	59345	GNB4	OMIM:615185
HP:0003011	Abnormality of the musculature	6736	SRY	ORPHA:1772
HP:0003011	Abnormality of the musculature	5346	PLIN1	ORPHA:280356
HP:0003011	Abnormality of the musculature	63924	CIDEC	ORPHA:435651
HP:0003011	Abnormality of the musculature	79048	SECISBP2	ORPHA:171706
HP:0003011	Abnormality of the musculature	3043	HBB	ORPHA:231226
HP:0003011	Abnormality of the musculature	3043	HBB	ORPHA:231214
HP:0003011	Abnormality of the musculature	1337	COX6A1	OMIM:616039
HP:0003011	Abnormality of the musculature	2027	ENO3	OMIM:612932
HP:0003011	Abnormality of the musculature	8854	ALDH1A2	OMIM:620025
HP:0003011	Abnormality of the musculature	7026	NR2F2	OMIM:618901
HP:0003011	Abnormality of the musculature	7019	TFAM	OMIM:617156
HP:0003011	Abnormality of the musculature	5307	PITX1	OMIM:186550
HP:0003011	Abnormality of the musculature	10765	KDM5B	OMIM:618109
HP:0003011	Abnormality of the musculature	10093	ARPC4	OMIM:620141
HP:0003011	Abnormality of the musculature	6909	TBX2	OMIM:618223
HP:0003011	Abnormality of the musculature	7390	UROS	OMIM:263700
HP:0003011	Abnormality of the musculature	7249	TSC2	OMIM:613254
HP:0003011	Abnormality of the musculature	7249	TSC2	ORPHA:805
HP:0003011	Abnormality of the musculature	3458	IFNG	OMIM:613254
HP:0003011	Abnormality of the musculature	3458	IFNG	ORPHA:805
HP:0003011	Abnormality of the musculature	7248	TSC1	ORPHA:805
HP:0003011	Abnormality of the musculature	7248	TSC1	OMIM:191100
HP:0003011	Abnormality of the musculature	55553	SOX6	OMIM:618971
HP:0003011	Abnormality of the musculature	23414	ZFPM2	ORPHA:2140
HP:0003011	Abnormality of the musculature	2627	GATA6	ORPHA:2140
HP:0003011	Abnormality of the musculature	84274	COQ5	OMIM:619028
HP:0003011	Abnormality of the musculature	6495	SIX1	OMIM:113650
HP:0003011	Abnormality of the musculature	6495	SIX1	ORPHA:107
HP:0003011	Abnormality of the musculature	6495	SIX1	ORPHA:52429
HP:0003011	Abnormality of the musculature	56172	ANKH	ORPHA:1522
HP:0003011	Abnormality of the musculature	56172	ANKH	OMIM:123000
HP:0003011	Abnormality of the musculature	29887	SNX10	OMIM:615085
HP:0003011	Abnormality of the musculature	9790	BMS1	ORPHA:1114
HP:0003011	Abnormality of the musculature	10054	UBA2	ORPHA:1114
HP:0003011	Abnormality of the musculature	7020	TFAP2A	OMIM:113620
HP:0003011	Abnormality of the musculature	84617	TUBB6	OMIM:617732
HP:0003011	Abnormality of the musculature	3211	HOXB1	OMIM:614744
HP:0003011	Abnormality of the musculature	147912	SIX5	ORPHA:107
HP:0003011	Abnormality of the musculature	84168	ANTXR1	OMIM:230740
HP:0003011	Abnormality of the musculature	29089	UBE2T	OMIM:616435
HP:0003011	Abnormality of the musculature	79029	AFG2B	OMIM:619616
HP:0003011	Abnormality of the musculature	3155	HMGCL	ORPHA:20
HP:0003011	Abnormality of the musculature	567	B2M	ORPHA:314652
HP:0003011	Abnormality of the musculature	5345	SERPINF2	ORPHA:79
HP:0003011	Abnormality of the musculature	2165	F13B	ORPHA:331
HP:0003011	Abnormality of the musculature	2162	F13A1	ORPHA:331
HP:0003011	Abnormality of the musculature	5054	SERPINE1	ORPHA:465
HP:0003011	Abnormality of the musculature	2159	F10	OMIM:227600
HP:0003011	Abnormality of the musculature	2159	F10	ORPHA:328
HP:0003011	Abnormality of the musculature	2155	F7	OMIM:227500
HP:0003011	Abnormality of the musculature	2147	F2	ORPHA:325
HP:0003011	Abnormality of the musculature	2997	GYS1	OMIM:611556
HP:0003011	Abnormality of the musculature	56992	KIF15	ORPHA:261323
HP:0003011	Abnormality of the musculature	57589	RIC1	OMIM:618761
HP:0003011	Abnormality of the musculature	64359	NXN	OMIM:618529
HP:0003011	Abnormality of the musculature	1301	COL11A1	OMIM:228520
HP:0003011	Abnormality of the musculature	1001	CDH3	OMIM:225280
HP:0003011	Abnormality of the musculature	79228	THOC6	ORPHA:363444
HP:0003011	Abnormality of the musculature	4094	MAF	ORPHA:1272
HP:0003011	Abnormality of the musculature	4094	MAF	OMIM:601088
HP:0003011	Abnormality of the musculature	7140	TNNT3	OMIM:618435
HP:0003011	Abnormality of the musculature	3239	HOXD13	OMIM:610713
HP:0003011	Abnormality of the musculature	11107	PRDM5	ORPHA:90354
HP:0003011	Abnormality of the musculature	84627	ZNF469	ORPHA:90354
HP:0003011	Abnormality of the musculature	8626	TP63	OMIM:603543
HP:0003011	Abnormality of the musculature	23483	TGDS	OMIM:616145
HP:0003011	Abnormality of the musculature	4088	SMAD3	OMIM:613795
HP:0003011	Abnormality of the musculature	147372	CCBE1	OMIM:235510
HP:0003011	Abnormality of the musculature	257	ALX3	OMIM:136760
HP:0003011	Abnormality of the musculature	26100	WIPI2	OMIM:618453
HP:0003011	Abnormality of the musculature	9427	ECEL1	OMIM:615065
HP:0003011	Abnormality of the musculature	7046	TGFBR1	OMIM:609192
HP:0003011	Abnormality of the musculature	1801	DPH1	ORPHA:459061
HP:0003011	Abnormality of the musculature	26012	NSMF	ORPHA:432
HP:0003011	Abnormality of the musculature	2796	GNRH1	ORPHA:432
HP:0003011	Abnormality of the musculature	2798	GNRHR	ORPHA:432
HP:0003011	Abnormality of the musculature	84634	KISS1R	ORPHA:432
HP:0003011	Abnormality of the musculature	6866	TAC3	ORPHA:432
HP:0003011	Abnormality of the musculature	3814	KISS1	ORPHA:432
HP:0003011	Abnormality of the musculature	1281	COL3A1	OMIM:618343
HP:0003011	Abnormality of the musculature	55315	SLC29A3	OMIM:602782
HP:0003011	Abnormality of the musculature	55315	SLC29A3	ORPHA:168569
HP:0003011	Abnormality of the musculature	117581	TWIST2	OMIM:200110
HP:0003011	Abnormality of the musculature	92255	LMBRD2	OMIM:619694
HP:0003011	Abnormality of the musculature	23511	NUP188	OMIM:618804
HP:0003011	Abnormality of the musculature	727857	BHLHA9	OMIM:607539
HP:0003011	Abnormality of the musculature	633	BGN	OMIM:300989
HP:0003011	Abnormality of the musculature	25	ABL1	OMIM:617602
HP:0003011	Abnormality of the musculature	5000	ORC4	OMIM:613800
HP:0003011	Abnormality of the musculature	55975	KLHL7	OMIM:617055
HP:0003011	Abnormality of the musculature	51715	RAB23	OMIM:201000
HP:0003011	Abnormality of the musculature	1857	DVL3	OMIM:616894
HP:0003011	Abnormality of the musculature	90416	CCDC32	OMIM:619123
HP:0003011	Abnormality of the musculature	3868	KRT16	ORPHA:2199
HP:0003011	Abnormality of the musculature	3857	KRT9	ORPHA:2199
HP:0003011	Abnormality of the musculature	6913	TBX15	OMIM:260660
HP:0003011	Abnormality of the musculature	4233	MET	OMIM:620019
HP:0003011	Abnormality of the musculature	10463	SLC30A9	OMIM:617595
HP:0003011	Abnormality of the musculature	96459	FNIP1	OMIM:619705
HP:0003011	Abnormality of the musculature	375387	NRROS	OMIM:618875
HP:0003011	Abnormality of the musculature	203190	LGI3	OMIM:620007
HP:0003011	Abnormality of the musculature	7516	XRCC2	OMIM:617247
HP:0003011	Abnormality of the musculature	443	ASPA	ORPHA:314911
HP:0003011	Abnormality of the musculature	7490	WT1	OMIM:194080
HP:0003011	Abnormality of the musculature	64065	PERP	OMIM:619208
HP:0003011	Abnormality of the musculature	22943	DKK1	ORPHA:268882
HP:0003011	Abnormality of the musculature	84196	USP48	ORPHA:96253
HP:0003011	Abnormality of the musculature	64072	CDH23	ORPHA:96253
HP:0003011	Abnormality of the musculature	2908	NR3C1	ORPHA:96253
HP:0003011	Abnormality of the musculature	3798	KIF5A	ORPHA:100991
HP:0003011	Abnormality of the musculature	442721	LMOD2	OMIM:619897
HP:0003011	Abnormality of the musculature	23387	SIK3	OMIM:618162
HP:0003011	Abnormality of the musculature	145258	GSC	OMIM:602471
HP:0003011	Abnormality of the musculature	5424	POLD1	OMIM:615381
HP:0003011	Abnormality of the musculature	5159	PDGFRB	OMIM:601812
HP:0003011	Abnormality of the musculature	55331	ACER3	OMIM:617762
HP:0003011	Abnormality of the musculature	55640	FLVCR2	OMIM:225790
HP:0003011	Abnormality of the musculature	9241	NOG	ORPHA:3250
HP:0003011	Abnormality of the musculature	613	BCR	ORPHA:261330
HP:0003011	Abnormality of the musculature	1399	CRKL	ORPHA:261330
HP:0003011	Abnormality of the musculature	6926	TBX3	ORPHA:3138
HP:0003011	Abnormality of the musculature	6999	TDO2	OMIM:600627
HP:0003011	Abnormality of the musculature	2535	FZD2	ORPHA:3107
HP:0003011	Abnormality of the musculature	9508	ADAMTS3	ORPHA:2136
HP:0003011	Abnormality of the musculature	10436	EMG1	ORPHA:1270
HP:0003011	Abnormality of the musculature	1723	DHODH	ORPHA:246
HP:0003011	Abnormality of the musculature	2245	FGD1	ORPHA:915
HP:0003011	Abnormality of the musculature	27238	GPKOW	ORPHA:2570
HP:0003011	Abnormality of the musculature	114548	NLRP3	ORPHA:575
HP:0003011	Abnormality of the musculature	134701	RIPPLY2	ORPHA:2311
HP:0003011	Abnormality of the musculature	10683	DLL3	ORPHA:2311
HP:0003011	Abnormality of the musculature	3955	LFNG	ORPHA:2311
HP:0003011	Abnormality of the musculature	84667	HES7	ORPHA:2311
HP:0003011	Abnormality of the musculature	145873	MESP2	ORPHA:2311
HP:0003011	Abnormality of the musculature	81620	CDT1	ORPHA:2554
HP:0003011	Abnormality of the musculature	23594	ORC6	ORPHA:2554
HP:0003011	Abnormality of the musculature	8318	CDC45	ORPHA:2554
HP:0003011	Abnormality of the musculature	990	CDC6	ORPHA:2554
HP:0003011	Abnormality of the musculature	51053	GMNN	ORPHA:2554
HP:0003011	Abnormality of the musculature	3914	LAMB3	OMIM:226650
HP:0003011	Abnormality of the musculature	64840	PORCN	ORPHA:2092
HP:0003011	Abnormality of the musculature	56916	SMARCAD1	ORPHA:1658
HP:0003011	Abnormality of the musculature	50943	FOXP3	ORPHA:37042
HP:0003011	Abnormality of the musculature	6696	SPP1	ORPHA:93552
HP:0003011	Abnormality of the musculature	3654	IRAK1	ORPHA:93552
HP:0003011	Abnormality of the musculature	4210	MEFV	ORPHA:3243
HP:0003011	Abnormality of the musculature	4210	MEFV	ORPHA:117
HP:0003011	Abnormality of the musculature	9051	PSTPIP1	ORPHA:69126
HP:0003011	Abnormality of the musculature	3662	IRF4	ORPHA:3452
HP:0003011	Abnormality of the musculature	149233	IL23R	ORPHA:117
HP:0003011	Abnormality of the musculature	3586	IL10	ORPHA:117
HP:0003011	Abnormality of the musculature	1230	CCR1	ORPHA:117
HP:0003011	Abnormality of the musculature	355	FAS	ORPHA:117
HP:0003011	Abnormality of the musculature	3592	IL12A	ORPHA:117
HP:0003011	Abnormality of the musculature	101928376	IL12A-AS1	ORPHA:117
HP:0003011	Abnormality of the musculature	3106	HLA-B	ORPHA:117
HP:0003011	Abnormality of the musculature	7099	TLR4	ORPHA:117
HP:0003011	Abnormality of the musculature	3459	IFNGR1	ORPHA:117
HP:0003011	Abnormality of the musculature	720	C4A	ORPHA:117
HP:0003011	Abnormality of the musculature	337867	UBAC2	ORPHA:117
HP:0003011	Abnormality of the musculature	51752	ERAP1	ORPHA:117
HP:0003011	Abnormality of the musculature	8302	KLRC4	ORPHA:117
HP:0003011	Abnormality of the musculature	4487	MSX1	ORPHA:141291
HP:0003011	Abnormality of the musculature	5818	NECTIN1	ORPHA:141291
HP:0003011	Abnormality of the musculature	3664	IRF6	ORPHA:141291
HP:0003710	Exercise-induced muscle cramps	487	ATP2A1	OMIM:601003
HP:0003710	Exercise-induced muscle cramps	6566	SLC16A1	OMIM:245340
HP:0003710	Exercise-induced muscle cramps	3920	LAMP2	OMIM:300257
HP:0003710	Exercise-induced muscle cramps	5230	PGK1	OMIM:300653
HP:0003710	Exercise-induced muscle cramps	5224	PGAM2	OMIM:261670
HP:0003710	Exercise-induced muscle cramps	859	CAV3	OMIM:123320
HP:0003710	Exercise-induced muscle cramps	859	CAV3	OMIM:606072
HP:0003710	Exercise-induced muscle cramps	5213	PFKM	OMIM:232800
HP:0003710	Exercise-induced muscle cramps	3908	LAMA2	OMIM:618138
HP:0003710	Exercise-induced muscle cramps	5837	PYGM	OMIM:232600
HP:0003710	Exercise-induced muscle cramps	5837	PYGM	ORPHA:368
HP:0003710	Exercise-induced muscle cramps	400916	CHCHD10	ORPHA:276435
HP:0003710	Exercise-induced muscle cramps	90523	MLIP	OMIM:620138
HP:0003710	Exercise-induced muscle cramps	1376	CPT2	ORPHA:228302
HP:0003710	Exercise-induced muscle cramps	1376	CPT2	ORPHA:228305
HP:0003710	Exercise-induced muscle cramps	1756	DMD	ORPHA:206546
HP:0003710	Exercise-induced muscle cramps	6261	RYR1	ORPHA:466650
HP:0003710	Exercise-induced muscle cramps	5836	PYGL	ORPHA:369
HP:0003710	Exercise-induced muscle cramps	3094	HINT1	ORPHA:324442
HP:0003712	Skeletal muscle hypertrophy	11160	ERLIN2	ORPHA:280384
HP:0003712	Skeletal muscle hypertrophy	11160	ERLIN2	ORPHA:209951
HP:0003712	Skeletal muscle hypertrophy	8450	CUL4B	OMIM:300354
HP:0003712	Skeletal muscle hypertrophy	51422	PRKAG2	OMIM:261740
HP:0003712	Skeletal muscle hypertrophy	9158	FIBP	ORPHA:500095
HP:0003712	Skeletal muscle hypertrophy	9158	FIBP	OMIM:617107
HP:0003712	Skeletal muscle hypertrophy	56623	INPP5E	OMIM:213300
HP:0003712	Skeletal muscle hypertrophy	79813	EHMT1	ORPHA:96147
HP:0003712	Skeletal muscle hypertrophy	79813	EHMT1	OMIM:610253
HP:0003712	Skeletal muscle hypertrophy	546	ATRX	OMIM:301040
HP:0003712	Skeletal muscle hypertrophy	546	ATRX	ORPHA:847
HP:0003712	Skeletal muscle hypertrophy	546	ATRX	OMIM:309580
HP:0003712	Skeletal muscle hypertrophy	411	ARSB	OMIM:253200
HP:0003712	Skeletal muscle hypertrophy	3190	HNRNPK	ORPHA:453504
HP:0003712	Skeletal muscle hypertrophy	3190	HNRNPK	ORPHA:352665
HP:0003712	Skeletal muscle hypertrophy	4125	MAN2B1	ORPHA:309282
HP:0003712	Skeletal muscle hypertrophy	4125	MAN2B1	ORPHA:309288
HP:0003712	Skeletal muscle hypertrophy	4125	MAN2B1	OMIM:248500
HP:0003712	Skeletal muscle hypertrophy	27125	AFF4	ORPHA:444077
HP:0003712	Skeletal muscle hypertrophy	7849	PAX8	OMIM:218700
HP:0003712	Skeletal muscle hypertrophy	7849	PAX8	ORPHA:95720
HP:0003712	Skeletal muscle hypertrophy	7849	PAX8	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	7849	PAX8	ORPHA:95712
HP:0003712	Skeletal muscle hypertrophy	91754	NEK9	OMIM:617022
HP:0003712	Skeletal muscle hypertrophy	2623	GATA1	OMIM:190685
HP:0003712	Skeletal muscle hypertrophy	388015	RTL1	ORPHA:254528
HP:0003712	Skeletal muscle hypertrophy	388015	RTL1	ORPHA:96334
HP:0003712	Skeletal muscle hypertrophy	8788	DLK1	ORPHA:254528
HP:0003712	Skeletal muscle hypertrophy	8788	DLK1	ORPHA:96334
HP:0003712	Skeletal muscle hypertrophy	55384	MEG3	ORPHA:254528
HP:0003712	Skeletal muscle hypertrophy	55384	MEG3	ORPHA:96334
HP:0003712	Skeletal muscle hypertrophy	3074	HEXB	OMIM:268800
HP:0003712	Skeletal muscle hypertrophy	65082	VPS33A	OMIM:617303
HP:0003712	Skeletal muscle hypertrophy	65082	VPS33A	ORPHA:505248
HP:0003712	Skeletal muscle hypertrophy	526	ATP6V1B2	OMIM:616455
HP:0003712	Skeletal muscle hypertrophy	526	ATP6V1B2	ORPHA:3473
HP:0003712	Skeletal muscle hypertrophy	10758	TRAF3IP2	OMIM:615527
HP:0003712	Skeletal muscle hypertrophy	10084	PQBP1	ORPHA:93947
HP:0003712	Skeletal muscle hypertrophy	2720	GLB1	ORPHA:79255
HP:0003712	Skeletal muscle hypertrophy	79158	GNPTAB	OMIM:252500
HP:0003712	Skeletal muscle hypertrophy	271	AMPD2	OMIM:615809
HP:0003712	Skeletal muscle hypertrophy	57231	SNX14	ORPHA:397709
HP:0003712	Skeletal muscle hypertrophy	57231	SNX14	OMIM:616354
HP:0003712	Skeletal muscle hypertrophy	5189	PEX1	OMIM:214100
HP:0003712	Skeletal muscle hypertrophy	3767	KCNJ11	ORPHA:99886
HP:0003712	Skeletal muscle hypertrophy	346171	ZFP57	ORPHA:99886
HP:0003712	Skeletal muscle hypertrophy	57061	HYMAI	ORPHA:99886
HP:0003712	Skeletal muscle hypertrophy	57061	HYMAI	ORPHA:96191
HP:0003712	Skeletal muscle hypertrophy	6833	ABCC8	ORPHA:99886
HP:0003712	Skeletal muscle hypertrophy	5325	PLAGL1	ORPHA:99886
HP:0003712	Skeletal muscle hypertrophy	5325	PLAGL1	ORPHA:96191
HP:0003712	Skeletal muscle hypertrophy	7253	TSHR	ORPHA:90673
HP:0003712	Skeletal muscle hypertrophy	7253	TSHR	ORPHA:95720
HP:0003712	Skeletal muscle hypertrophy	7253	TSHR	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	5172	SLC26A4	ORPHA:95720
HP:0003712	Skeletal muscle hypertrophy	5172	SLC26A4	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	7252	TSHB	ORPHA:90674
HP:0003712	Skeletal muscle hypertrophy	7252	TSHB	OMIM:275100
HP:0003712	Skeletal muscle hypertrophy	55777	MBD5	OMIM:156200
HP:0003712	Skeletal muscle hypertrophy	10940	POP1	OMIM:617396
HP:0003712	Skeletal muscle hypertrophy	405753	DUOXA2	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	6528	SLC5A5	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	6528	SLC5A5	OMIM:274400
HP:0003712	Skeletal muscle hypertrophy	7038	TG	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	7173	TPO	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	389434	IYD	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	50506	DUOX2	ORPHA:95716
HP:0003712	Skeletal muscle hypertrophy	50506	DUOX2	ORPHA:226316
HP:0003712	Skeletal muscle hypertrophy	7080	NKX2-1	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	1482	NKX2-5	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	1482	NKX2-5	ORPHA:95712
HP:0003712	Skeletal muscle hypertrophy	2304	FOXE1	ORPHA:95713
HP:0003712	Skeletal muscle hypertrophy	3423	IDS	ORPHA:217085
HP:0003712	Skeletal muscle hypertrophy	3423	IDS	ORPHA:217093
HP:0003712	Skeletal muscle hypertrophy	3423	IDS	OMIM:309900
HP:0003712	Skeletal muscle hypertrophy	3572	IL6ST	OMIM:618523
HP:0003712	Skeletal muscle hypertrophy	93627	TBCK	OMIM:616900
HP:0003712	Skeletal muscle hypertrophy	93627	TBCK	ORPHA:488632
HP:0003712	Skeletal muscle hypertrophy	8289	ARID1A	OMIM:614607
HP:0003712	Skeletal muscle hypertrophy	23389	MED13L	ORPHA:369891
HP:0003712	Skeletal muscle hypertrophy	23389	MED13L	OMIM:616789
HP:0003712	Skeletal muscle hypertrophy	83550	GPR101	ORPHA:963
HP:0003712	Skeletal muscle hypertrophy	9049	AIP	ORPHA:963
HP:0003712	Skeletal muscle hypertrophy	6598	SMARCB1	OMIM:614608
HP:0003712	Skeletal muscle hypertrophy	6597	SMARCA4	OMIM:614609
HP:0003712	Skeletal muscle hypertrophy	60	ACTB	ORPHA:79107
HP:0003712	Skeletal muscle hypertrophy	3265	HRAS	ORPHA:3071
HP:0003712	Skeletal muscle hypertrophy	3265	HRAS	OMIM:218040
HP:0003712	Skeletal muscle hypertrophy	10483	SEC23B	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	5728	PTEN	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	5728	PTEN	ORPHA:65285
HP:0003712	Skeletal muscle hypertrophy	6390	SDHB	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	6392	SDHD	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	6391	SDHC	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	207	AKT1	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	205717	USF3	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	5290	PIK3CA	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	100144748	KLLN	ORPHA:201
HP:0003712	Skeletal muscle hypertrophy	112812	FDX2	OMIM:251900
HP:0003712	Skeletal muscle hypertrophy	4556	MT-TE	ORPHA:254864
HP:0003712	Skeletal muscle hypertrophy	55687	TRMU	ORPHA:254864
HP:0003712	Skeletal muscle hypertrophy	7067	THRA	OMIM:614450
HP:0003712	Skeletal muscle hypertrophy	3070	HELLS	ORPHA:2268
HP:0003712	Skeletal muscle hypertrophy	1789	DNMT3B	ORPHA:2268
HP:0003712	Skeletal muscle hypertrophy	1789	DNMT3B	OMIM:242860
HP:0003712	Skeletal muscle hypertrophy	83879	CDCA7	ORPHA:2268
HP:0003712	Skeletal muscle hypertrophy	9841	ZBTB24	ORPHA:2268
HP:0003712	Skeletal muscle hypertrophy	6023	RMRP	OMIM:607095
HP:0003712	Skeletal muscle hypertrophy	175	AGA	OMIM:208400
HP:0003712	Skeletal muscle hypertrophy	175	AGA	ORPHA:93
HP:0003712	Skeletal muscle hypertrophy	3756	KCNH1	ORPHA:3473
HP:0003712	Skeletal muscle hypertrophy	3782	KCNN3	ORPHA:3473
HP:0003712	Skeletal muscle hypertrophy	3425	IDUA	OMIM:607014
HP:0003712	Skeletal muscle hypertrophy	3425	IDUA	ORPHA:93473
HP:0003712	Skeletal muscle hypertrophy	26040	SETBP1	OMIM:269150
HP:0003712	Skeletal muscle hypertrophy	26040	SETBP1	ORPHA:798
HP:0003712	Skeletal muscle hypertrophy	9653	HS2ST1	OMIM:619194
HP:0003712	Skeletal muscle hypertrophy	2290	FOXG1	ORPHA:261144
HP:0003712	Skeletal muscle hypertrophy	57003	CCDC47	OMIM:618268
HP:0003712	Skeletal muscle hypertrophy	10526	IPO8	OMIM:619472
HP:0003712	Skeletal muscle hypertrophy	94005	PIGS	OMIM:618143
HP:0003712	Skeletal muscle hypertrophy	5626	PROP1	ORPHA:226307
HP:0003712	Skeletal muscle hypertrophy	89884	LHX4	ORPHA:226307
HP:0003712	Skeletal muscle hypertrophy	8022	LHX3	ORPHA:226307
HP:0003712	Skeletal muscle hypertrophy	5449	POU1F1	ORPHA:226307
HP:0003712	Skeletal muscle hypertrophy	5449	POU1F1	OMIM:613038
HP:0003712	Skeletal muscle hypertrophy	8820	HESX1	ORPHA:226307
HP:0003712	Skeletal muscle hypertrophy	2517	FUCA1	OMIM:230000
HP:0003712	Skeletal muscle hypertrophy	2548	GAA	OMIM:232300
HP:0003712	Skeletal muscle hypertrophy	2548	GAA	ORPHA:308552
HP:0003712	Skeletal muscle hypertrophy	51692	CPSF3	OMIM:619876
HP:0003712	Skeletal muscle hypertrophy	6804	STX1A	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	7461	CLIP2	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	84277	DNAJC30	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	8468	FKBP6	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	5982	RFC2	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	2969	GTF2I	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	3984	LIMK1	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	9569	GTF2IRD1	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	155382	VPS37D	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	155368	METTL27	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	114049	BUD23	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	7458	EIF4H	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	84163	GTF2IRD2	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	9275	BCL7B	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	26608	TBL2	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	653361	NCF1	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	135886	TMEM270	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	51085	MLXIPL	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	9031	BAZ1B	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	2006	ELN	ORPHA:904
HP:0003712	Skeletal muscle hypertrophy	79753	SNIP1	OMIM:614501
HP:0003712	Skeletal muscle hypertrophy	6638	SNRPN	OMIM:105830
HP:0003712	Skeletal muscle hypertrophy	7337	UBE3A	OMIM:105830
HP:0003712	Skeletal muscle hypertrophy	2799	GNS	OMIM:252940
HP:0003712	Skeletal muscle hypertrophy	4920	ROR2	OMIM:268310
HP:0003712	Skeletal muscle hypertrophy	2239	GPC4	ORPHA:373
HP:0003712	Skeletal muscle hypertrophy	2239	GPC4	OMIM:312870
HP:0003712	Skeletal muscle hypertrophy	2719	GPC3	ORPHA:373
HP:0003712	Skeletal muscle hypertrophy	2719	GPC3	OMIM:312870
HP:0003712	Skeletal muscle hypertrophy	4123	MAN2C1	OMIM:619775
HP:0003712	Skeletal muscle hypertrophy	54941	RNF125	OMIM:616260
HP:0003712	Skeletal muscle hypertrophy	284098	PIGW	OMIM:616025
HP:0003712	Skeletal muscle hypertrophy	10020	GNE	OMIM:269921
HP:0003712	Skeletal muscle hypertrophy	1028	CDKN1C	OMIM:130650
HP:0003712	Skeletal muscle hypertrophy	10984	KCNQ1OT1	OMIM:130650
HP:0003712	Skeletal muscle hypertrophy	3481	IGF2	OMIM:130650
HP:0003712	Skeletal muscle hypertrophy	3784	KCNQ1	OMIM:130650
HP:0003712	Skeletal muscle hypertrophy	5286	PIK3C2A	OMIM:618440
HP:0003712	Skeletal muscle hypertrophy	2990	GUSB	OMIM:253220
HP:0003712	Skeletal muscle hypertrophy	3643	INSR	ORPHA:769
HP:0003712	Skeletal muscle hypertrophy	29929	ALG6	ORPHA:79320
HP:0003712	Skeletal muscle hypertrophy	10195	ALG3	ORPHA:79321
HP:0003712	Skeletal muscle hypertrophy	3778	KCNMA1	OMIM:618729
HP:0003712	Skeletal muscle hypertrophy	7474	WNT5A	OMIM:180700
HP:0003712	Skeletal muscle hypertrophy	1855	DVL1	OMIM:180700
HP:0003712	Skeletal muscle hypertrophy	79053	ALG8	ORPHA:79325
HP:0003712	Skeletal muscle hypertrophy	9742	IFT140	OMIM:266920
HP:0003712	Skeletal muscle hypertrophy	5696	PSMB8	OMIM:256040
HP:0003712	Skeletal muscle hypertrophy	3991	LIPE	ORPHA:435660
HP:0003712	Skeletal muscle hypertrophy	3703	STT3A	OMIM:619714
HP:0003712	Skeletal muscle hypertrophy	6473	SHOX	OMIM:127300
HP:0003712	Skeletal muscle hypertrophy	6473	SHOX	ORPHA:314795
HP:0003712	Skeletal muscle hypertrophy	5631	PRPS1	ORPHA:99014
HP:0003712	Skeletal muscle hypertrophy	84197	POMK	ORPHA:370959
HP:0003712	Skeletal muscle hypertrophy	3714	JAG2	OMIM:619566
HP:0003712	Skeletal muscle hypertrophy	11128	POLR3A	ORPHA:3455
HP:0003712	Skeletal muscle hypertrophy	2273	FHL1	OMIM:300280
HP:0003712	Skeletal muscle hypertrophy	2273	FHL1	OMIM:300696
HP:0003712	Skeletal muscle hypertrophy	487	ATP2A1	OMIM:601003
HP:0003712	Skeletal muscle hypertrophy	2660	MSTN	OMIM:614160
HP:0003712	Skeletal muscle hypertrophy	5468	PPARG	ORPHA:79083
HP:0003712	Skeletal muscle hypertrophy	5468	PPARG	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	3339	HSPG2	OMIM:255800
HP:0003712	Skeletal muscle hypertrophy	3339	HSPG2	ORPHA:800
HP:0003712	Skeletal muscle hypertrophy	10555	AGPAT2	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	284119	CAVIN1	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	284119	CAVIN1	OMIM:613327
HP:0003712	Skeletal muscle hypertrophy	26580	BSCL2	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	2353	FOS	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	857	CAV1	ORPHA:528
HP:0003712	Skeletal muscle hypertrophy	372	ARCN1	OMIM:617164
HP:0003712	Skeletal muscle hypertrophy	4359	MPZ	ORPHA:101082
HP:0003712	Skeletal muscle hypertrophy	6329	SCN4A	ORPHA:99735
HP:0003712	Skeletal muscle hypertrophy	4089	SMAD4	OMIM:139210
HP:0003712	Skeletal muscle hypertrophy	9839	ZEB2	OMIM:235730
HP:0003712	Skeletal muscle hypertrophy	4000	LMNA	ORPHA:280365
HP:0003712	Skeletal muscle hypertrophy	6736	SRY	ORPHA:1772
HP:0003712	Skeletal muscle hypertrophy	5921	RASA1	ORPHA:90307
HP:0003712	Skeletal muscle hypertrophy	1180	CLCN1	OMIM:255700
HP:0003712	Skeletal muscle hypertrophy	6445	SGCG	ORPHA:353
HP:0003712	Skeletal muscle hypertrophy	10585	POMT1	OMIM:609308
HP:0003712	Skeletal muscle hypertrophy	10585	POMT1	ORPHA:86812
HP:0003712	Skeletal muscle hypertrophy	10585	POMT1	ORPHA:370968
HP:0003712	Skeletal muscle hypertrophy	10585	POMT1	OMIM:613155
HP:0003712	Skeletal muscle hypertrophy	7273	TTN	OMIM:603689
HP:0003712	Skeletal muscle hypertrophy	7273	TTN	ORPHA:178464
HP:0003712	Skeletal muscle hypertrophy	7273	TTN	OMIM:611705
HP:0003712	Skeletal muscle hypertrophy	10367	MICU1	OMIM:615673
HP:0003712	Skeletal muscle hypertrophy	859	CAV3	OMIM:606072
HP:0003712	Skeletal muscle hypertrophy	859	CAV3	OMIM:614321
HP:0003712	Skeletal muscle hypertrophy	6606	SMN1	OMIM:271150
HP:0003712	Skeletal muscle hypertrophy	1756	DMD	OMIM:310200
HP:0003712	Skeletal muscle hypertrophy	1756	DMD	ORPHA:206546
HP:0003712	Skeletal muscle hypertrophy	1756	DMD	ORPHA:98896
HP:0003712	Skeletal muscle hypertrophy	2218	FKTN	OMIM:253800
HP:0003712	Skeletal muscle hypertrophy	2218	FKTN	OMIM:611615
HP:0003712	Skeletal muscle hypertrophy	2218	FKTN	OMIM:611588
HP:0003712	Skeletal muscle hypertrophy	274	BIN1	ORPHA:169189
HP:0003712	Skeletal muscle hypertrophy	64419	MTMR14	ORPHA:169189
HP:0003712	Skeletal muscle hypertrophy	4618	MYF6	ORPHA:169189
HP:0003712	Skeletal muscle hypertrophy	1785	DNM2	ORPHA:169189
HP:0003712	Skeletal muscle hypertrophy	6261	RYR1	ORPHA:169189
HP:0003712	Skeletal muscle hypertrophy	6442	SGCA	OMIM:608099
HP:0003712	Skeletal muscle hypertrophy	5339	PLEC	ORPHA:254361
HP:0003712	Skeletal muscle hypertrophy	8291	DYSF	ORPHA:268
HP:0003712	Skeletal muscle hypertrophy	8291	DYSF	ORPHA:45448
HP:0003712	Skeletal muscle hypertrophy	825	CAPN3	ORPHA:267
HP:0003712	Skeletal muscle hypertrophy	5346	PLIN1	ORPHA:280356
HP:0003712	Skeletal muscle hypertrophy	729920	CRPPA	OMIM:616052
HP:0003712	Skeletal muscle hypertrophy	6576	SLC25A1	OMIM:618197
HP:0003712	Skeletal muscle hypertrophy	63924	CIDEC	ORPHA:435651
HP:0003712	Skeletal muscle hypertrophy	400916	CHCHD10	OMIM:615048
HP:0003712	Skeletal muscle hypertrophy	3736	KCNA1	ORPHA:37612
HP:0003712	Skeletal muscle hypertrophy	9215	LARGE1	OMIM:608840
HP:0003712	Skeletal muscle hypertrophy	9215	LARGE1	ORPHA:370968
HP:0003712	Skeletal muscle hypertrophy	79147	FKRP	OMIM:607155
HP:0003712	Skeletal muscle hypertrophy	79147	FKRP	ORPHA:370968
HP:0003712	Skeletal muscle hypertrophy	79147	FKRP	OMIM:606612
HP:0003712	Skeletal muscle hypertrophy	79147	FKRP	ORPHA:34515
HP:0003712	Skeletal muscle hypertrophy	29925	GMPPB	ORPHA:370968
HP:0003712	Skeletal muscle hypertrophy	29954	POMT2	ORPHA:370968
HP:0003712	Skeletal muscle hypertrophy	29954	POMT2	ORPHA:206559
HP:0003712	Skeletal muscle hypertrophy	6444	SGCD	OMIM:601287
HP:0003712	Skeletal muscle hypertrophy	2483	FRG1	OMIM:158900
HP:0003712	Skeletal muscle hypertrophy	146862	UNC45B	OMIM:619178
HP:0003712	Skeletal muscle hypertrophy	64208	POPDC3	OMIM:618848
HP:0003712	Skeletal muscle hypertrophy	55624	POMGNT1	OMIM:613157
HP:0003712	Skeletal muscle hypertrophy	4625	MYH7	OMIM:255160
HP:0003712	Skeletal muscle hypertrophy	80208	SPG11	OMIM:616668
HP:0003712	Skeletal muscle hypertrophy	55679	LIMS2	OMIM:616827
HP:0003712	Skeletal muscle hypertrophy	203859	ANO5	OMIM:613319
HP:0003712	Skeletal muscle hypertrophy	203859	ANO5	OMIM:611307
HP:0003712	Skeletal muscle hypertrophy	203859	ANO5	ORPHA:206549
HP:0003712	Skeletal muscle hypertrophy	1605	DAG1	ORPHA:280333
HP:0003712	Skeletal muscle hypertrophy	84892	POMGNT2	OMIM:618135
HP:0003712	Skeletal muscle hypertrophy	8557	TCAP	OMIM:601954
HP:0003712	Skeletal muscle hypertrophy	54344	DPM3	ORPHA:263494
HP:0003712	Skeletal muscle hypertrophy	51776	MAP3K20	OMIM:617760
HP:0003712	Skeletal muscle hypertrophy	3908	LAMA2	OMIM:618138
HP:0003712	Skeletal muscle hypertrophy	8449	DHX16	OMIM:618733
HP:0003712	Skeletal muscle hypertrophy	367	AR	OMIM:313200
HP:0003712	Skeletal muscle hypertrophy	6443	SGCB	ORPHA:119
HP:0003712	Skeletal muscle hypertrophy	8425	LTBP4	ORPHA:98896
HP:0003712	Skeletal muscle hypertrophy	5376	PMP22	ORPHA:101081
HP:0003712	Skeletal muscle hypertrophy	25792	CIZ1	ORPHA:420492
HP:0003713	Muscle fiber necrosis	58	ACTA1	ORPHA:97240
HP:0003713	Muscle fiber necrosis	5428	POLG	OMIM:157640
HP:0003713	Muscle fiber necrosis	5428	POLG	OMIM:607459
HP:0003713	Muscle fiber necrosis	5428	POLG	OMIM:258450
HP:0003713	Muscle fiber necrosis	56652	TWNK	OMIM:607459
HP:0003713	Muscle fiber necrosis	1291	COL6A1	OMIM:254090
HP:0003713	Muscle fiber necrosis	1292	COL6A2	OMIM:254090
HP:0003713	Muscle fiber necrosis	1293	COL6A3	OMIM:254090
HP:0003713	Muscle fiber necrosis	5255	PHKA1	OMIM:300559
HP:0003713	Muscle fiber necrosis	64208	POPDC3	OMIM:618848
HP:0003713	Muscle fiber necrosis	84466	MEGF10	OMIM:614399
HP:0003713	Muscle fiber necrosis	6606	SMN1	OMIM:271150
HP:0003713	Muscle fiber necrosis	8449	DHX16	OMIM:618733
HP:0003713	Muscle fiber necrosis	11149	BVES	OMIM:616812
HP:0003713	Muscle fiber necrosis	203547	VMA21	OMIM:310440
HP:0003713	Muscle fiber necrosis	90523	MLIP	OMIM:620138
HP:0003713	Muscle fiber necrosis	6445	SGCG	OMIM:253700
HP:0003713	Muscle fiber necrosis	6442	SGCA	OMIM:608099
HP:0003715	Myofibrillar myopathy	58	ACTA1	ORPHA:97240
HP:0003715	Myofibrillar myopathy	10049	DNAJB6	ORPHA:34516
HP:0003715	Myofibrillar myopathy	2273	FHL1	OMIM:300695
HP:0003715	Myofibrillar myopathy	7273	TTN	OMIM:603689
HP:0003715	Myofibrillar myopathy	131377	KLHL40	OMIM:615348
HP:0003715	Myofibrillar myopathy	9531	BAG3	OMIM:612954
HP:0003715	Myofibrillar myopathy	2318	FLNC	OMIM:609524
HP:0003715	Myofibrillar myopathy	9499	MYOT	OMIM:609200
HP:0003715	Myofibrillar myopathy	5728	PTEN	ORPHA:744
HP:0003715	Myofibrillar myopathy	207	AKT1	ORPHA:744
HP:0003715	Myofibrillar myopathy	11155	LDB3	OMIM:609452
HP:0003716	Generalized muscular appearance from birth	26580	BSCL2	OMIM:269700
HP:0003716	Generalized muscular appearance from birth	10555	AGPAT2	OMIM:608594
HP:0003717	Minimal subcutaneous fat	4000	LMNA	ORPHA:280365
HP:0003717	Minimal subcutaneous fat	6497	SKI	OMIM:182212
HP:0003717	Minimal subcutaneous fat	8260	NAA10	OMIM:300855
HP:0003717	Minimal subcutaneous fat	857	CAV1	OMIM:606721
HP:0003717	Minimal subcutaneous fat	3763	KCNJ6	OMIM:614098
HP:0003719	Muscle mounding	859	CAV3	OMIM:606072
HP:0003719	Muscle mounding	284119	CAVIN1	OMIM:613327
HP:0003720	Generalized muscle hypertrophy	6329	SCN4A	ORPHA:99735
HP:0003720	Generalized muscle hypertrophy	4089	SMAD4	OMIM:139210
HP:0003720	Generalized muscle hypertrophy	9839	ZEB2	OMIM:235730
HP:0003803	Type 1 muscle fiber predominance	274	BIN1	ORPHA:169186
HP:0003803	Type 1 muscle fiber predominance	274	BIN1	ORPHA:169189
HP:0003803	Type 1 muscle fiber predominance	10290	SPEG	ORPHA:169186
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:169186
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:597
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:169189
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:178145
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	OMIM:117000
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:98905
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	ORPHA:424107
HP:0003803	Type 1 muscle fiber predominance	6261	RYR1	OMIM:619542
HP:0003803	Type 1 muscle fiber predominance	7273	TTN	ORPHA:169186
HP:0003803	Type 1 muscle fiber predominance	7273	TTN	ORPHA:178464
HP:0003803	Type 1 muscle fiber predominance	1291	COL6A1	OMIM:254090
HP:0003803	Type 1 muscle fiber predominance	1292	COL6A2	OMIM:254090
HP:0003803	Type 1 muscle fiber predominance	1293	COL6A3	OMIM:254090
HP:0003803	Type 1 muscle fiber predominance	84665	MYPN	OMIM:617336
HP:0003803	Type 1 muscle fiber predominance	84665	MYPN	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	6606	SMN1	OMIM:271150
HP:0003803	Type 1 muscle fiber predominance	8087	FXR1	OMIM:618823
HP:0003803	Type 1 muscle fiber predominance	4703	NEB	OMIM:256030
HP:0003803	Type 1 muscle fiber predominance	4703	NEB	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	4703	NEB	ORPHA:171433
HP:0003803	Type 1 muscle fiber predominance	4703	NEB	ORPHA:171430
HP:0003803	Type 1 muscle fiber predominance	4703	NEB	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	58	ACTA1	OMIM:161800
HP:0003803	Type 1 muscle fiber predominance	58	ACTA1	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	58	ACTA1	ORPHA:171433
HP:0003803	Type 1 muscle fiber predominance	58	ACTA1	ORPHA:171430
HP:0003803	Type 1 muscle fiber predominance	58	ACTA1	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	64419	MTMR14	ORPHA:169189
HP:0003803	Type 1 muscle fiber predominance	64419	MTMR14	OMIM:160150
HP:0003803	Type 1 muscle fiber predominance	4618	MYF6	ORPHA:169189
HP:0003803	Type 1 muscle fiber predominance	1785	DNM2	ORPHA:169189
HP:0003803	Type 1 muscle fiber predominance	1785	DNM2	OMIM:160150
HP:0003803	Type 1 muscle fiber predominance	4625	MYH7	ORPHA:59135
HP:0003803	Type 1 muscle fiber predominance	4625	MYH7	OMIM:160500
HP:0003803	Type 1 muscle fiber predominance	4625	MYH7	OMIM:255160
HP:0003803	Type 1 muscle fiber predominance	4625	MYH7	OMIM:608358
HP:0003803	Type 1 muscle fiber predominance	2617	GARS1	OMIM:619042
HP:0003803	Type 1 muscle fiber predominance	7169	TPM2	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	7169	TPM2	OMIM:609285
HP:0003803	Type 1 muscle fiber predominance	7169	TPM2	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	10324	KLHL41	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	10324	KLHL41	ORPHA:171433
HP:0003803	Type 1 muscle fiber predominance	10324	KLHL41	ORPHA:171430
HP:0003803	Type 1 muscle fiber predominance	10324	KLHL41	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	56203	LMOD3	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	56203	LMOD3	ORPHA:171430
HP:0003803	Type 1 muscle fiber predominance	1073	CFL2	ORPHA:171436
HP:0003803	Type 1 muscle fiber predominance	7170	TPM3	ORPHA:171433
HP:0003803	Type 1 muscle fiber predominance	7170	TPM3	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	10585	POMT1	ORPHA:86812
HP:0003803	Type 1 muscle fiber predominance	131377	KLHL40	ORPHA:171430
HP:0003803	Type 1 muscle fiber predominance	23287	AGTPBP1	OMIM:618276
HP:0003803	Type 1 muscle fiber predominance	8292	COLQ	ORPHA:98915
HP:0003803	Type 1 muscle fiber predominance	8292	COLQ	OMIM:603034
HP:0003803	Type 1 muscle fiber predominance	3913	LAMB2	ORPHA:98915
HP:0003803	Type 1 muscle fiber predominance	55033	FKBP14	OMIM:614557
HP:0003803	Type 1 muscle fiber predominance	2992	GYG1	OMIM:613507
HP:0003803	Type 1 muscle fiber predominance	6329	SCN4A	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	1134	CHRNA1	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	4038	LRP4	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	4038	LRP4	OMIM:616304
HP:0003803	Type 1 muscle fiber predominance	1305	COL13A1	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	1140	CHRNB1	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	1140	CHRNB1	OMIM:616313
HP:0003803	Type 1 muscle fiber predominance	1144	CHRND	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	1145	CHRNE	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	4593	MUSK	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	5913	RAPSN	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	375790	AGRN	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	221264	AK9	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	285489	DOK7	ORPHA:98913
HP:0003803	Type 1 muscle fiber predominance	29925	GMPPB	ORPHA:353327
HP:0003803	Type 1 muscle fiber predominance	2673	GFPT1	ORPHA:353327
HP:0003803	Type 1 muscle fiber predominance	1798	DPAGT1	ORPHA:353327
HP:0003803	Type 1 muscle fiber predominance	85365	ALG2	ORPHA:353327
HP:0003803	Type 1 muscle fiber predominance	85365	ALG2	OMIM:616228
HP:0003803	Type 1 muscle fiber predominance	199857	ALG14	ORPHA:353327
HP:0003803	Type 1 muscle fiber predominance	87178	PNPT1	ORPHA:319514
HP:0003803	Type 1 muscle fiber predominance	7125	TNNC2	OMIM:620161
HP:0003803	Type 1 muscle fiber predominance	3736	KCNA1	ORPHA:972
HP:0003803	Type 1 muscle fiber predominance	57190	SELENON	OMIM:602771
HP:0003803	Type 1 muscle fiber predominance	146862	UNC45B	OMIM:619178
HP:0003803	Type 1 muscle fiber predominance	859	CAV3	OMIM:614321
HP:0003803	Type 1 muscle fiber predominance	390594	KBTBD13	ORPHA:171439
HP:0003803	Type 1 muscle fiber predominance	7415	VCP	OMIM:613954
HP:0003803	Type 1 muscle fiber predominance	6445	SGCG	OMIM:253700
HP:0003803	Type 1 muscle fiber predominance	7138	TNNT1	ORPHA:98902
HP:0003803	Type 1 muscle fiber predominance	7138	TNNT1	OMIM:605355
HP:0003803	Type 1 muscle fiber predominance	124093	CCDC78	OMIM:614807
HP:0003803	Type 1 muscle fiber predominance	8604	SLC25A12	OMIM:612949
HP:0003803	Type 1 muscle fiber predominance	4620	MYH2	OMIM:605637
HP:0003803	Type 1 muscle fiber predominance	88	ACTN2	OMIM:618654
HP:0003803	Type 1 muscle fiber predominance	88	ACTN2	OMIM:618655
HP:0003803	Type 1 muscle fiber predominance	51776	MAP3K20	OMIM:617760
HP:0003803	Type 1 muscle fiber predominance	4632	MYL1	OMIM:618414
HP:0003803	Type 1 muscle fiber predominance	6786	STIM1	OMIM:160565
HP:0003803	Type 1 muscle fiber predominance	54332	GDAP1	OMIM:608340
HP:0003722	Neck flexor weakness	6445	SGCG	ORPHA:353
HP:0003722	Neck flexor weakness	57190	SELENON	OMIM:602771
HP:0003722	Neck flexor weakness	7273	TTN	OMIM:603689
HP:0003722	Neck flexor weakness	7273	TTN	ORPHA:178464
HP:0003722	Neck flexor weakness	22954	TRIM32	OMIM:254110
HP:0003722	Neck flexor weakness	50484	RRM2B	ORPHA:329336
HP:0003722	Neck flexor weakness	246243	RNASEH1	ORPHA:329336
HP:0003722	Neck flexor weakness	859	CAV3	OMIM:614321
HP:0003722	Neck flexor weakness	1674	DES	ORPHA:98909
HP:0003722	Neck flexor weakness	400916	CHCHD10	OMIM:616209
HP:0003722	Neck flexor weakness	400916	CHCHD10	ORPHA:457050
HP:0003722	Neck flexor weakness	4625	MYH7	OMIM:608358
HP:0003722	Neck flexor weakness	4703	NEB	OMIM:256030
HP:0003722	Neck flexor weakness	4703	NEB	ORPHA:171436
HP:0003722	Neck flexor weakness	4703	NEB	ORPHA:399103
HP:0003722	Neck flexor weakness	58	ACTA1	OMIM:161800
HP:0003722	Neck flexor weakness	58	ACTA1	ORPHA:171436
HP:0003722	Neck flexor weakness	58	ACTA1	OMIM:616852
HP:0003722	Neck flexor weakness	8291	DYSF	ORPHA:268
HP:0003722	Neck flexor weakness	7555	CNBP	OMIM:602668
HP:0003722	Neck flexor weakness	5428	POLG	OMIM:157640
HP:0003722	Neck flexor weakness	2521	FUS	ORPHA:300605
HP:0003722	Neck flexor weakness	80208	SPG11	ORPHA:300605
HP:0003722	Neck flexor weakness	10280	SIGMAR1	ORPHA:300605
HP:0003722	Neck flexor weakness	10558	SPTLC1	ORPHA:300605
HP:0003722	Neck flexor weakness	57679	ALS2	ORPHA:300605
HP:0003722	Neck flexor weakness	7169	TPM2	ORPHA:171436
HP:0003722	Neck flexor weakness	10324	KLHL41	ORPHA:171436
HP:0003722	Neck flexor weakness	56203	LMOD3	ORPHA:171436
HP:0003722	Neck flexor weakness	1073	CFL2	ORPHA:171436
HP:0003722	Neck flexor weakness	2992	GYG1	ORPHA:263297
HP:0003722	Neck flexor weakness	7156	TOP3A	OMIM:618098
HP:0003722	Neck flexor weakness	390594	KBTBD13	OMIM:609273
HP:0003722	Neck flexor weakness	3908	LAMA2	OMIM:618138
HP:0003722	Neck flexor weakness	6329	SCN4A	ORPHA:98913
HP:0003722	Neck flexor weakness	1134	CHRNA1	ORPHA:98913
HP:0003722	Neck flexor weakness	4038	LRP4	ORPHA:98913
HP:0003722	Neck flexor weakness	1305	COL13A1	ORPHA:98913
HP:0003722	Neck flexor weakness	1140	CHRNB1	ORPHA:98913
HP:0003722	Neck flexor weakness	1144	CHRND	ORPHA:98913
HP:0003722	Neck flexor weakness	1145	CHRNE	ORPHA:98913
HP:0003722	Neck flexor weakness	4593	MUSK	ORPHA:98913
HP:0003722	Neck flexor weakness	5913	RAPSN	ORPHA:98913
HP:0003722	Neck flexor weakness	375790	AGRN	ORPHA:98913
HP:0003722	Neck flexor weakness	221264	AK9	ORPHA:98913
HP:0003722	Neck flexor weakness	285489	DOK7	ORPHA:98913
HP:0003724	Shoulder girdle muscle atrophy	79147	FKRP	OMIM:606612
HP:0003724	Shoulder girdle muscle atrophy	2483	FRG1	OMIM:158900
HP:0003724	Shoulder girdle muscle atrophy	4625	MYH7	ORPHA:437572
HP:0003724	Shoulder girdle muscle atrophy	4625	MYH7	OMIM:608358
HP:0003724	Shoulder girdle muscle atrophy	146862	UNC45B	OMIM:619178
HP:0003724	Shoulder girdle muscle atrophy	7170	TPM3	OMIM:609284
HP:0003724	Shoulder girdle muscle atrophy	59341	TRPV4	OMIM:606071
HP:0003724	Shoulder girdle muscle atrophy	22954	TRIM32	OMIM:254110
HP:0003724	Shoulder girdle muscle atrophy	60	ACTB	ORPHA:64755
HP:0003724	Shoulder girdle muscle atrophy	7415	VCP	OMIM:167320
HP:0003724	Shoulder girdle muscle atrophy	6443	SGCB	OMIM:604286
HP:0003724	Shoulder girdle muscle atrophy	4000	LMNA	ORPHA:98856
HP:0003724	Shoulder girdle muscle atrophy	1674	DES	OMIM:181400
HP:0003724	Shoulder girdle muscle atrophy	6606	SMN1	OMIM:253400
HP:0003724	Shoulder girdle muscle atrophy	6607	SMN2	OMIM:253400
HP:0003724	Shoulder girdle muscle atrophy	10020	GNE	ORPHA:602
HP:0003725	Firm muscles	2548	GAA	OMIM:232300
HP:0003725	Firm muscles	63895	PIEZO2	OMIM:108145
HP:0001308	Tongue fasciculations	9131	AIFM1	ORPHA:238329
HP:0001308	Tongue fasciculations	9131	AIFM1	OMIM:300816
HP:0001308	Tongue fasciculations	10558	SPTLC1	OMIM:162400
HP:0001308	Tongue fasciculations	427	ASAH1	OMIM:159950
HP:0001308	Tongue fasciculations	6904	TBCD	OMIM:617193
HP:0001308	Tongue fasciculations	11340	EXOSC8	OMIM:616081
HP:0001308	Tongue fasciculations	11340	EXOSC8	ORPHA:2254
HP:0001308	Tongue fasciculations	23250	ATP11A	OMIM:619851
HP:0001308	Tongue fasciculations	5393	EXOSC9	OMIM:618065
HP:0001308	Tongue fasciculations	5393	EXOSC9	ORPHA:2254
HP:0001308	Tongue fasciculations	4724	NDUFS4	OMIM:252010
HP:0001308	Tongue fasciculations	7317	UBA1	ORPHA:1145
HP:0001308	Tongue fasciculations	7317	UBA1	OMIM:301830
HP:0001308	Tongue fasciculations	10133	OPTN	OMIM:613435
HP:0001308	Tongue fasciculations	64856	VWA1	OMIM:619216
HP:0001308	Tongue fasciculations	203190	LGI3	OMIM:620007
HP:0001308	Tongue fasciculations	55005	RMND1	OMIM:614922
HP:0001308	Tongue fasciculations	7415	VCP	ORPHA:329475
HP:0001308	Tongue fasciculations	23287	AGTPBP1	ORPHA:2254
HP:0001308	Tongue fasciculations	23287	AGTPBP1	OMIM:618276
HP:0001308	Tongue fasciculations	51010	EXOSC3	ORPHA:2254
HP:0001308	Tongue fasciculations	51010	EXOSC3	OMIM:614678
HP:0001308	Tongue fasciculations	7443	VRK1	ORPHA:2254
HP:0001308	Tongue fasciculations	7443	VRK1	OMIM:607596
HP:0001308	Tongue fasciculations	91137	SLC25A46	ORPHA:2254
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:271150
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253300
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253400
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253550
HP:0001308	Tongue fasciculations	8087	FXR1	OMIM:618822
HP:0001308	Tongue fasciculations	8087	FXR1	OMIM:618823
HP:0001308	Tongue fasciculations	114034	TOE1	OMIM:614969
HP:0001308	Tongue fasciculations	6607	SMN2	OMIM:253400
HP:0001308	Tongue fasciculations	79581	SLC52A2	OMIM:614707
HP:0001308	Tongue fasciculations	773	CACNA1A	ORPHA:569
HP:0001308	Tongue fasciculations	112476	PRRT2	ORPHA:569
HP:0001308	Tongue fasciculations	6323	SCN1A	ORPHA:569
HP:0001308	Tongue fasciculations	477	ATP1A2	ORPHA:569
HP:0001308	Tongue fasciculations	79628	SH3TC2	OMIM:601596
HP:0001308	Tongue fasciculations	79628	SH3TC2	ORPHA:99949
HP:0001308	Tongue fasciculations	54936	ADPRS	OMIM:618170
HP:0001308	Tongue fasciculations	7259	TSPYL1	OMIM:608800
HP:0001308	Tongue fasciculations	127833	SYT2	OMIM:619461
HP:0001308	Tongue fasciculations	10528	NOP56	OMIM:614153
HP:0001308	Tongue fasciculations	10528	NOP56	ORPHA:276198
HP:0001308	Tongue fasciculations	51305	KCNK9	ORPHA:166108
HP:0001308	Tongue fasciculations	84466	MEGF10	OMIM:614399
HP:0001308	Tongue fasciculations	58497	PRUNE1	ORPHA:544469
HP:0001308	Tongue fasciculations	400916	CHCHD10	ORPHA:276435
HP:0001308	Tongue fasciculations	89874	SLC25A21	OMIM:618811
HP:0001308	Tongue fasciculations	4359	MPZ	OMIM:145900
HP:0001308	Tongue fasciculations	5376	PMP22	OMIM:145900
HP:0001308	Tongue fasciculations	1959	EGR2	OMIM:145900
HP:0001308	Tongue fasciculations	57716	PRX	OMIM:145900
HP:0001308	Tongue fasciculations	113278	SLC52A3	OMIM:211530
HP:0003810	Late-onset distal muscle weakness	4703	NEB	OMIM:256030
HP:0003810	Late-onset distal muscle weakness	58	ACTA1	OMIM:161800
HP:0003729	Enteroviral dermatomyositis syndrome	695	BTK	OMIM:300755
HP:0003729	Enteroviral dermatomyositis syndrome	695	BTK	OMIM:307200
HP:0003730	EMG: myotonic runs	6445	SGCG	ORPHA:353
HP:0003730	EMG: myotonic runs	1180	CLCN1	OMIM:160800
HP:0003730	EMG: myotonic runs	1180	CLCN1	OMIM:255700
HP:0003730	EMG: myotonic runs	203859	ANO5	ORPHA:206549
HP:0003731	Quadriceps muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003731	Quadriceps muscle weakness	5428	POLG	ORPHA:254892
HP:0003731	Quadriceps muscle weakness	56652	TWNK	ORPHA:254892
HP:0003731	Quadriceps muscle weakness	11232	POLG2	ORPHA:254892
HP:0003731	Quadriceps muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003731	Quadriceps muscle weakness	7273	TTN	OMIM:603689
HP:0003731	Quadriceps muscle weakness	7273	TTN	ORPHA:609
HP:0003731	Quadriceps muscle weakness	1410	CRYAB	OMIM:608810
HP:0003731	Quadriceps muscle weakness	5255	PHKA1	OMIM:300559
HP:0003731	Quadriceps muscle weakness	7415	VCP	ORPHA:435387
HP:0003731	Quadriceps muscle weakness	22954	TRIM32	OMIM:254110
HP:0003731	Quadriceps muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003731	Quadriceps muscle weakness	54332	GDAP1	ORPHA:101097
HP:0003731	Quadriceps muscle weakness	8291	DYSF	ORPHA:45448
HP:0003731	Quadriceps muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003731	Quadriceps muscle weakness	1756	DMD	ORPHA:206546
HP:0003731	Quadriceps muscle weakness	3339	HSPG2	OMIM:255800
HP:0003731	Quadriceps muscle weakness	203859	ANO5	OMIM:613319
HP:0003731	Quadriceps muscle weakness	9927	MFN2	ORPHA:99947
HP:0003731	Quadriceps muscle weakness	1303	COL12A1	ORPHA:610
HP:0003731	Quadriceps muscle weakness	1291	COL6A1	ORPHA:610
HP:0003731	Quadriceps muscle weakness	1292	COL6A2	ORPHA:610
HP:0003731	Quadriceps muscle weakness	1293	COL6A3	ORPHA:610
HP:0003731	Quadriceps muscle weakness	10020	GNE	ORPHA:602
HP:0003199	Decreased muscle mass	6611	SMS	ORPHA:3063
HP:0003199	Decreased muscle mass	6611	SMS	OMIM:309583
HP:0003199	Decreased muscle mass	2673	GFPT1	OMIM:608931
HP:0003199	Decreased muscle mass	1145	CHRNE	OMIM:608931
HP:0003199	Decreased muscle mass	4593	MUSK	OMIM:208150
HP:0003199	Decreased muscle mass	63895	PIEZO2	OMIM:114300
HP:0003199	Decreased muscle mass	63895	PIEZO2	OMIM:108145
HP:0003199	Decreased muscle mass	63895	PIEZO2	ORPHA:376
HP:0003199	Decreased muscle mass	63895	PIEZO2	OMIM:248700
HP:0003199	Decreased muscle mass	9853	RUSC2	OMIM:617773
HP:0003199	Decreased muscle mass	22931	RAB18	OMIM:614222
HP:0003199	Decreased muscle mass	4010	LMX1B	ORPHA:2614
HP:0003199	Decreased muscle mass	6885	MAP3K7	OMIM:617137
HP:0003199	Decreased muscle mass	92335	STRADA	ORPHA:500533
HP:0003199	Decreased muscle mass	81839	VANGL1	ORPHA:3027
HP:0003199	Decreased muscle mass	80199	FUZ	ORPHA:3027
HP:0003199	Decreased muscle mass	7681	MKRN3	OMIM:176270
HP:0003199	Decreased muscle mass	3653	IPW	OMIM:176270
HP:0003199	Decreased muscle mass	54551	MAGEL2	OMIM:176270
HP:0003199	Decreased muscle mass	791114	PWRN1	OMIM:176270
HP:0003199	Decreased muscle mass	100033413	SNORD116-1	OMIM:176270
HP:0003199	Decreased muscle mass	8924	HERC2	OMIM:176270
HP:0003199	Decreased muscle mass	145624	PWAR1	OMIM:176270
HP:0003199	Decreased muscle mass	23742	NPAP1	OMIM:176270
HP:0003199	Decreased muscle mass	338433	SNORD115-1	OMIM:176270
HP:0003199	Decreased muscle mass	80025	PANK2	OMIM:234200
HP:0003199	Decreased muscle mass	2517	FUCA1	ORPHA:349
HP:0003199	Decreased muscle mass	5728	PTEN	ORPHA:744
HP:0003199	Decreased muscle mass	207	AKT1	ORPHA:744
HP:0003199	Decreased muscle mass	1303	COL12A1	ORPHA:536516
HP:0003199	Decreased muscle mass	2887	GRB10	ORPHA:96182
HP:0003199	Decreased muscle mass	4854	NOTCH3	OMIM:130720
HP:0003199	Decreased muscle mass	23431	AP4E1	OMIM:613744
HP:0003199	Decreased muscle mass	2488	FSHB	OMIM:229070
HP:0003199	Decreased muscle mass	8292	COLQ	OMIM:603034
HP:0003199	Decreased muscle mass	5428	POLG	ORPHA:298
HP:0003199	Decreased muscle mass	1890	TYMP	ORPHA:298
HP:0003199	Decreased muscle mass	3980	LIG3	ORPHA:298
HP:0003199	Decreased muscle mass	50484	RRM2B	ORPHA:298
HP:0003199	Decreased muscle mass	23321	TRIM2	OMIM:615490
HP:0003199	Decreased muscle mass	23545	ATP6V0A2	ORPHA:357074
HP:0003199	Decreased muscle mass	23545	ATP6V0A2	ORPHA:2834
HP:0003199	Decreased muscle mass	523	ATP6V1A	ORPHA:357074
HP:0003199	Decreased muscle mass	529	ATP6V1E1	ORPHA:357074
HP:0003199	Decreased muscle mass	2200	FBN1	OMIM:154700
HP:0003199	Decreased muscle mass	10479	SLC9A6	ORPHA:85278
HP:0003199	Decreased muscle mass	2193	FARSA	OMIM:619013
HP:0003199	Decreased muscle mass	113189	CHST14	ORPHA:2953
HP:0003199	Decreased muscle mass	29940	DSE	ORPHA:2953
HP:0003199	Decreased muscle mass	2538	G6PC1	OMIM:232200
HP:0003199	Decreased muscle mass	5831	PYCR1	OMIM:612940
HP:0003199	Decreased muscle mass	654	BMP6	ORPHA:465508
HP:0003199	Decreased muscle mass	3077	HFE	ORPHA:465508
HP:0003199	Decreased muscle mass	3295	HSD17B4	OMIM:261515
HP:0003199	Decreased muscle mass	6678	SPARC	OMIM:616507
HP:0003199	Decreased muscle mass	5351	PLOD1	ORPHA:1900
HP:0003199	Decreased muscle mass	226	ALDOA	ORPHA:57
HP:0003199	Decreased muscle mass	2992	GYG1	ORPHA:263297
HP:0003199	Decreased muscle mass	9427	ECEL1	OMIM:615065
HP:0003199	Decreased muscle mass	7043	TGFB3	OMIM:615582
HP:0003199	Decreased muscle mass	128637	TBC1D20	OMIM:615663
HP:0003199	Decreased muscle mass	2683	B4GALT1	OMIM:607091
HP:0003199	Decreased muscle mass	53834	FGFRL1	OMIM:194190
HP:0003199	Decreased muscle mass	1487	CTBP1	OMIM:194190
HP:0003199	Decreased muscle mass	3954	LETM1	OMIM:194190
HP:0003199	Decreased muscle mass	7468	NSD2	OMIM:194190
HP:0003199	Decreased muscle mass	10815	CPLX1	OMIM:194190
HP:0003733	Thigh hypertrophy	79147	FKRP	OMIM:606612
HP:0003733	Thigh hypertrophy	79147	FKRP	OMIM:607155
HP:0003733	Thigh hypertrophy	10585	POMT1	ORPHA:86812
HP:0011805	Abnormal skeletal muscle morphology	8450	CUL4B	OMIM:300354
HP:0011805	Abnormal skeletal muscle morphology	51422	PRKAG2	OMIM:261740
HP:0011805	Abnormal skeletal muscle morphology	9158	FIBP	ORPHA:500095
HP:0011805	Abnormal skeletal muscle morphology	9158	FIBP	OMIM:617107
HP:0011805	Abnormal skeletal muscle morphology	56623	INPP5E	OMIM:213300
HP:0011805	Abnormal skeletal muscle morphology	79813	EHMT1	ORPHA:96147
HP:0011805	Abnormal skeletal muscle morphology	79813	EHMT1	OMIM:610253
HP:0011805	Abnormal skeletal muscle morphology	3190	HNRNPK	ORPHA:453504
HP:0011805	Abnormal skeletal muscle morphology	3190	HNRNPK	ORPHA:352665
HP:0011805	Abnormal skeletal muscle morphology	4125	MAN2B1	ORPHA:309282
HP:0011805	Abnormal skeletal muscle morphology	4125	MAN2B1	ORPHA:309288
HP:0011805	Abnormal skeletal muscle morphology	4125	MAN2B1	OMIM:248500
HP:0011805	Abnormal skeletal muscle morphology	27125	AFF4	ORPHA:444077
HP:0011805	Abnormal skeletal muscle morphology	7849	PAX8	OMIM:218700
HP:0011805	Abnormal skeletal muscle morphology	7849	PAX8	ORPHA:95720
HP:0011805	Abnormal skeletal muscle morphology	7849	PAX8	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	7849	PAX8	ORPHA:95712
HP:0011805	Abnormal skeletal muscle morphology	91754	NEK9	OMIM:617022
HP:0011805	Abnormal skeletal muscle morphology	2623	GATA1	OMIM:190685
HP:0011805	Abnormal skeletal muscle morphology	526	ATP6V1B2	OMIM:616455
HP:0011805	Abnormal skeletal muscle morphology	526	ATP6V1B2	ORPHA:3473
HP:0011805	Abnormal skeletal muscle morphology	10758	TRAF3IP2	OMIM:615527
HP:0011805	Abnormal skeletal muscle morphology	10084	PQBP1	ORPHA:93947
HP:0011805	Abnormal skeletal muscle morphology	2720	GLB1	ORPHA:79255
HP:0011805	Abnormal skeletal muscle morphology	79158	GNPTAB	OMIM:252500
HP:0011805	Abnormal skeletal muscle morphology	271	AMPD2	OMIM:615809
HP:0011805	Abnormal skeletal muscle morphology	57231	SNX14	ORPHA:397709
HP:0011805	Abnormal skeletal muscle morphology	57231	SNX14	OMIM:616354
HP:0011805	Abnormal skeletal muscle morphology	5189	PEX1	OMIM:214100
HP:0011805	Abnormal skeletal muscle morphology	346171	ZFP57	ORPHA:99886
HP:0011805	Abnormal skeletal muscle morphology	57061	HYMAI	ORPHA:99886
HP:0011805	Abnormal skeletal muscle morphology	57061	HYMAI	ORPHA:96191
HP:0011805	Abnormal skeletal muscle morphology	5325	PLAGL1	ORPHA:99886
HP:0011805	Abnormal skeletal muscle morphology	5325	PLAGL1	ORPHA:96191
HP:0011805	Abnormal skeletal muscle morphology	7253	TSHR	ORPHA:90673
HP:0011805	Abnormal skeletal muscle morphology	7253	TSHR	ORPHA:95720
HP:0011805	Abnormal skeletal muscle morphology	7253	TSHR	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	5172	SLC26A4	ORPHA:95720
HP:0011805	Abnormal skeletal muscle morphology	5172	SLC26A4	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	7252	TSHB	ORPHA:90674
HP:0011805	Abnormal skeletal muscle morphology	7252	TSHB	OMIM:275100
HP:0011805	Abnormal skeletal muscle morphology	55777	MBD5	OMIM:156200
HP:0011805	Abnormal skeletal muscle morphology	405753	DUOXA2	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	6528	SLC5A5	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	6528	SLC5A5	OMIM:274400
HP:0011805	Abnormal skeletal muscle morphology	7038	TG	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	7173	TPO	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	389434	IYD	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	50506	DUOX2	ORPHA:95716
HP:0011805	Abnormal skeletal muscle morphology	50506	DUOX2	ORPHA:226316
HP:0011805	Abnormal skeletal muscle morphology	7080	NKX2-1	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	1482	NKX2-5	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	1482	NKX2-5	ORPHA:95712
HP:0011805	Abnormal skeletal muscle morphology	2304	FOXE1	ORPHA:95713
HP:0011805	Abnormal skeletal muscle morphology	3572	IL6ST	OMIM:618523
HP:0011805	Abnormal skeletal muscle morphology	93627	TBCK	OMIM:616900
HP:0011805	Abnormal skeletal muscle morphology	93627	TBCK	ORPHA:488632
HP:0011805	Abnormal skeletal muscle morphology	8289	ARID1A	OMIM:614607
HP:0011805	Abnormal skeletal muscle morphology	83550	GPR101	ORPHA:963
HP:0011805	Abnormal skeletal muscle morphology	9049	AIP	ORPHA:963
HP:0011805	Abnormal skeletal muscle morphology	6597	SMARCA4	OMIM:614609
HP:0011805	Abnormal skeletal muscle morphology	60	ACTB	ORPHA:79107
HP:0011805	Abnormal skeletal muscle morphology	3265	HRAS	ORPHA:3071
HP:0011805	Abnormal skeletal muscle morphology	3265	HRAS	OMIM:218040
HP:0011805	Abnormal skeletal muscle morphology	10483	SEC23B	ORPHA:201
HP:0011805	Abnormal skeletal muscle morphology	5728	PTEN	ORPHA:201
HP:0011805	Abnormal skeletal muscle morphology	5728	PTEN	ORPHA:65285
HP:0011805	Abnormal skeletal muscle morphology	6391	SDHC	ORPHA:201
HP:0011805	Abnormal skeletal muscle morphology	205717	USF3	ORPHA:201
HP:0011805	Abnormal skeletal muscle morphology	100144748	KLLN	ORPHA:201
HP:0011805	Abnormal skeletal muscle morphology	55687	TRMU	ORPHA:254864
HP:0011805	Abnormal skeletal muscle morphology	7067	THRA	OMIM:614450
HP:0011805	Abnormal skeletal muscle morphology	3070	HELLS	ORPHA:2268
HP:0011805	Abnormal skeletal muscle morphology	83879	CDCA7	ORPHA:2268
HP:0011805	Abnormal skeletal muscle morphology	9841	ZBTB24	ORPHA:2268
HP:0011805	Abnormal skeletal muscle morphology	6023	RMRP	OMIM:607095
HP:0011805	Abnormal skeletal muscle morphology	175	AGA	OMIM:208400
HP:0011805	Abnormal skeletal muscle morphology	175	AGA	ORPHA:93
HP:0011805	Abnormal skeletal muscle morphology	3756	KCNH1	ORPHA:3473
HP:0011805	Abnormal skeletal muscle morphology	26040	SETBP1	OMIM:269150
HP:0011805	Abnormal skeletal muscle morphology	26040	SETBP1	ORPHA:798
HP:0011805	Abnormal skeletal muscle morphology	9653	HS2ST1	OMIM:619194
HP:0011805	Abnormal skeletal muscle morphology	2290	FOXG1	ORPHA:261144
HP:0011805	Abnormal skeletal muscle morphology	57003	CCDC47	OMIM:618268
HP:0011805	Abnormal skeletal muscle morphology	10526	IPO8	OMIM:619472
HP:0011805	Abnormal skeletal muscle morphology	94005	PIGS	OMIM:618143
HP:0011805	Abnormal skeletal muscle morphology	5626	PROP1	ORPHA:226307
HP:0011805	Abnormal skeletal muscle morphology	89884	LHX4	ORPHA:226307
HP:0011805	Abnormal skeletal muscle morphology	8022	LHX3	ORPHA:226307
HP:0011805	Abnormal skeletal muscle morphology	5449	POU1F1	ORPHA:226307
HP:0011805	Abnormal skeletal muscle morphology	5449	POU1F1	OMIM:613038
HP:0011805	Abnormal skeletal muscle morphology	8820	HESX1	ORPHA:226307
HP:0011805	Abnormal skeletal muscle morphology	51692	CPSF3	OMIM:619876
HP:0011805	Abnormal skeletal muscle morphology	6804	STX1A	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	7461	CLIP2	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	84277	DNAJC30	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	8468	FKBP6	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	5982	RFC2	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	2969	GTF2I	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	3984	LIMK1	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	9569	GTF2IRD1	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	155382	VPS37D	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	155368	METTL27	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	114049	BUD23	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	7458	EIF4H	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	84163	GTF2IRD2	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	9275	BCL7B	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	26608	TBL2	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	653361	NCF1	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	135886	TMEM270	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	9031	BAZ1B	ORPHA:904
HP:0011805	Abnormal skeletal muscle morphology	79753	SNIP1	OMIM:614501
HP:0011805	Abnormal skeletal muscle morphology	6638	SNRPN	OMIM:105830
HP:0011805	Abnormal skeletal muscle morphology	7337	UBE3A	OMIM:105830
HP:0011805	Abnormal skeletal muscle morphology	55624	POMGNT1	ORPHA:370959
HP:0011805	Abnormal skeletal muscle morphology	2799	GNS	OMIM:252940
HP:0011805	Abnormal skeletal muscle morphology	4920	ROR2	OMIM:268310
HP:0011805	Abnormal skeletal muscle morphology	2239	GPC4	ORPHA:373
HP:0011805	Abnormal skeletal muscle morphology	2239	GPC4	OMIM:312870
HP:0011805	Abnormal skeletal muscle morphology	2719	GPC3	ORPHA:373
HP:0011805	Abnormal skeletal muscle morphology	2719	GPC3	OMIM:312870
HP:0011805	Abnormal skeletal muscle morphology	4123	MAN2C1	OMIM:619775
HP:0011805	Abnormal skeletal muscle morphology	54941	RNF125	OMIM:616260
HP:0011805	Abnormal skeletal muscle morphology	284098	PIGW	OMIM:616025
HP:0011805	Abnormal skeletal muscle morphology	1028	CDKN1C	OMIM:130650
HP:0011805	Abnormal skeletal muscle morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011805	Abnormal skeletal muscle morphology	3481	IGF2	OMIM:130650
HP:0011805	Abnormal skeletal muscle morphology	3784	KCNQ1	OMIM:130650
HP:0011805	Abnormal skeletal muscle morphology	5286	PIK3C2A	OMIM:618440
HP:0011805	Abnormal skeletal muscle morphology	3643	INSR	ORPHA:769
HP:0011805	Abnormal skeletal muscle morphology	55679	LIMS2	OMIM:616827
HP:0011805	Abnormal skeletal muscle morphology	29929	ALG6	ORPHA:79320
HP:0011805	Abnormal skeletal muscle morphology	5468	PPARG	ORPHA:528
HP:0011805	Abnormal skeletal muscle morphology	10555	AGPAT2	ORPHA:528
HP:0011805	Abnormal skeletal muscle morphology	2353	FOS	ORPHA:528
HP:0011805	Abnormal skeletal muscle morphology	3778	KCNMA1	OMIM:618729
HP:0011805	Abnormal skeletal muscle morphology	7474	WNT5A	OMIM:180700
HP:0011805	Abnormal skeletal muscle morphology	1855	DVL1	OMIM:180700
HP:0011805	Abnormal skeletal muscle morphology	79053	ALG8	ORPHA:79325
HP:0011805	Abnormal skeletal muscle morphology	9742	IFT140	OMIM:266920
HP:0011805	Abnormal skeletal muscle morphology	50801	KCNK4	OMIM:618381
HP:0011805	Abnormal skeletal muscle morphology	7528	YY1	ORPHA:506358
HP:0011805	Abnormal skeletal muscle morphology	7528	YY1	OMIM:617557
HP:0011805	Abnormal skeletal muscle morphology	5518	PPP2R1A	OMIM:616362
HP:0011805	Abnormal skeletal muscle morphology	5518	PPP2R1A	ORPHA:457284
HP:0011805	Abnormal skeletal muscle morphology	27107	ZBTB11	OMIM:618383
HP:0011805	Abnormal skeletal muscle morphology	2892	GRIA3	ORPHA:364028
HP:0011805	Abnormal skeletal muscle morphology	23126	POGZ	OMIM:616364
HP:0011805	Abnormal skeletal muscle morphology	23126	POGZ	ORPHA:468678
HP:0011805	Abnormal skeletal muscle morphology	92335	STRADA	ORPHA:500533
HP:0011805	Abnormal skeletal muscle morphology	92335	STRADA	OMIM:611087
HP:0011805	Abnormal skeletal muscle morphology	6418	SET	OMIM:618106
HP:0011805	Abnormal skeletal muscle morphology	6507	SLC1A3	ORPHA:2131
HP:0011805	Abnormal skeletal muscle morphology	477	ATP1A2	ORPHA:2131
HP:0011805	Abnormal skeletal muscle morphology	478	ATP1A3	ORPHA:2131
HP:0011805	Abnormal skeletal muscle morphology	23030	KDM4B	OMIM:619320
HP:0011805	Abnormal skeletal muscle morphology	283489	CHAMP1	OMIM:616579
HP:0011805	Abnormal skeletal muscle morphology	200424	TET3	OMIM:618798
HP:0011805	Abnormal skeletal muscle morphology	9179	AP4M1	ORPHA:280763
HP:0011805	Abnormal skeletal muscle morphology	8925	HERC1	ORPHA:457359
HP:0011805	Abnormal skeletal muscle morphology	818	CAMK2G	OMIM:618522
HP:0011805	Abnormal skeletal muscle morphology	10463	SLC30A9	OMIM:617595
HP:0011805	Abnormal skeletal muscle morphology	5455	POU3F3	OMIM:618604
HP:0011805	Abnormal skeletal muscle morphology	29940	DSE	OMIM:615539
HP:0011805	Abnormal skeletal muscle morphology	157680	VPS13B	OMIM:216550
HP:0011805	Abnormal skeletal muscle morphology	7703	PCGF2	OMIM:618371
HP:0011805	Abnormal skeletal muscle morphology	1760	DMPK	ORPHA:589821
HP:0011805	Abnormal skeletal muscle morphology	57178	ZMIZ1	OMIM:618659
HP:0011805	Abnormal skeletal muscle morphology	5813	PURA	ORPHA:438216
HP:0011805	Abnormal skeletal muscle morphology	23314	SATB2	OMIM:612313
HP:0011805	Abnormal skeletal muscle morphology	5081	PAX7	OMIM:618578
HP:0011805	Abnormal skeletal muscle morphology	64132	XYLT2	ORPHA:85194
HP:0011805	Abnormal skeletal muscle morphology	9230	RAB11B	OMIM:617807
HP:0011805	Abnormal skeletal muscle morphology	5521	PPP2R2B	OMIM:604326
HP:0011805	Abnormal skeletal muscle morphology	111	ADCY5	OMIM:606703
HP:0011805	Abnormal skeletal muscle morphology	111	ADCY5	ORPHA:324588
HP:0011805	Abnormal skeletal muscle morphology	203190	LGI3	OMIM:620007
HP:0011805	Abnormal skeletal muscle morphology	6712	SPTBN2	OMIM:600224
HP:0011805	Abnormal skeletal muscle morphology	5582	PRKCG	OMIM:605361
HP:0011805	Abnormal skeletal muscle morphology	2512	FTL	OMIM:606159
HP:0011805	Abnormal skeletal muscle morphology	2512	FTL	ORPHA:157846
HP:0011805	Abnormal skeletal muscle morphology	9895	TECPR2	ORPHA:320385
HP:0011805	Abnormal skeletal muscle morphology	9895	TECPR2	OMIM:615031
HP:0011805	Abnormal skeletal muscle morphology	10159	ATP6AP2	OMIM:300911
HP:0011805	Abnormal skeletal muscle morphology	10159	ATP6AP2	ORPHA:93952
HP:0011805	Abnormal skeletal muscle morphology	10159	ATP6AP2	OMIM:300423
HP:0011805	Abnormal skeletal muscle morphology	6571	SLC18A2	OMIM:618049
HP:0011805	Abnormal skeletal muscle morphology	6571	SLC18A2	ORPHA:352649
HP:0011805	Abnormal skeletal muscle morphology	55532	SLC30A10	ORPHA:309854
HP:0011805	Abnormal skeletal muscle morphology	58494	JAM2	OMIM:618824
HP:0011805	Abnormal skeletal muscle morphology	1213	CLTC	OMIM:617854
HP:0011805	Abnormal skeletal muscle morphology	6531	SLC6A3	OMIM:613135
HP:0011805	Abnormal skeletal muscle morphology	6531	SLC6A3	ORPHA:238455
HP:0011805	Abnormal skeletal muscle morphology	23317	DNAJC13	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	1981	EIF4G1	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	55737	VPS35	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	120892	LRRK2	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	26058	GIGYF2	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	6622	SNCA	ORPHA:411602
HP:0011805	Abnormal skeletal muscle morphology	6622	SNCA	ORPHA:171695
HP:0011805	Abnormal skeletal muscle morphology	6697	SPR	ORPHA:70594
HP:0011805	Abnormal skeletal muscle morphology	10907	TXNL4A	OMIM:608572
HP:0011805	Abnormal skeletal muscle morphology	10935	PRDX3	OMIM:619862
HP:0011805	Abnormal skeletal muscle morphology	25793	FBXO7	ORPHA:171695
HP:0011805	Abnormal skeletal muscle morphology	25793	FBXO7	OMIM:260300
HP:0011805	Abnormal skeletal muscle morphology	55753	OGDHL	OMIM:619701
HP:0011805	Abnormal skeletal muscle morphology	54862	CC2D1A	OMIM:608443
HP:0011805	Abnormal skeletal muscle morphology	25792	CIZ1	ORPHA:420492
HP:0011805	Abnormal skeletal muscle morphology	2774	GNAL	OMIM:615073
HP:0011805	Abnormal skeletal muscle morphology	2774	GNAL	ORPHA:329466
HP:0011805	Abnormal skeletal muscle morphology	1356	CP	OMIM:604290
HP:0011805	Abnormal skeletal muscle morphology	1356	CP	ORPHA:48818
HP:0011805	Abnormal skeletal muscle morphology	3208	HPCA	ORPHA:99657
HP:0011805	Abnormal skeletal muscle morphology	3208	HPCA	OMIM:224500
HP:0011805	Abnormal skeletal muscle morphology	5575	PRKAR1B	OMIM:619680
HP:0011805	Abnormal skeletal muscle morphology	387119	CEP85L	OMIM:618873
HP:0011805	Abnormal skeletal muscle morphology	3781	KCNN2	OMIM:619724
HP:0011805	Abnormal skeletal muscle morphology	1644	DDC	OMIM:608643
HP:0011805	Abnormal skeletal muscle morphology	64221	ROBO3	OMIM:607313
HP:0011805	Abnormal skeletal muscle morphology	63982	ANO3	ORPHA:420485
HP:0011805	Abnormal skeletal muscle morphology	63982	ANO3	OMIM:615034
HP:0011805	Abnormal skeletal muscle morphology	343641	TGM6	OMIM:613908
HP:0011805	Abnormal skeletal muscle morphology	343641	TGM6	ORPHA:276193
HP:0011805	Abnormal skeletal muscle morphology	64601	VPS16	OMIM:619291
HP:0011805	Abnormal skeletal muscle morphology	25953	PNKD	OMIM:118800
HP:0011805	Abnormal skeletal muscle morphology	25953	PNKD	ORPHA:98810
HP:0011805	Abnormal skeletal muscle morphology	116228	COX20	OMIM:619054
HP:0011805	Abnormal skeletal muscle morphology	1813	DRD2	ORPHA:36899
HP:0011805	Abnormal skeletal muscle morphology	8910	SGCE	ORPHA:36899
HP:0011805	Abnormal skeletal muscle morphology	8910	SGCE	OMIM:159900
HP:0011805	Abnormal skeletal muscle morphology	79734	KCTD17	ORPHA:36899
HP:0011805	Abnormal skeletal muscle morphology	79734	KCTD17	OMIM:616398
HP:0011805	Abnormal skeletal muscle morphology	84504	NKX6-2	OMIM:617560
HP:0011805	Abnormal skeletal muscle morphology	1267	CNP	OMIM:619071
HP:0011805	Abnormal skeletal muscle morphology	8558	CDK10	OMIM:617694
HP:0011805	Abnormal skeletal muscle morphology	6711	SPTBN1	OMIM:619475
HP:0011805	Abnormal skeletal muscle morphology	10382	TUBB4A	ORPHA:98805
HP:0011805	Abnormal skeletal muscle morphology	10382	TUBB4A	OMIM:128101
HP:0011805	Abnormal skeletal muscle morphology	7701	ZNF142	OMIM:618425
HP:0011805	Abnormal skeletal muscle morphology	55145	THAP1	ORPHA:98806
HP:0011805	Abnormal skeletal muscle morphology	55145	THAP1	OMIM:602629
HP:0011805	Abnormal skeletal muscle morphology	3748	KCNC3	ORPHA:98768
HP:0011805	Abnormal skeletal muscle morphology	80036	TRPM3	OMIM:620224
HP:0011805	Abnormal skeletal muscle morphology	11198	SUPT16H	OMIM:619480
HP:0011805	Abnormal skeletal muscle morphology	128240	NAXE	OMIM:617186
HP:0011805	Abnormal skeletal muscle morphology	4617	MYF5	OMIM:618155
HP:0011805	Abnormal skeletal muscle morphology	6908	TBP	ORPHA:98759
HP:0011805	Abnormal skeletal muscle morphology	2898	GRIK2	OMIM:611092
HP:0011805	Abnormal skeletal muscle morphology	256472	TMEM151A	OMIM:620245
HP:0011805	Abnormal skeletal muscle morphology	7042	TGFB2	OMIM:614816
HP:0011805	Abnormal skeletal muscle morphology	6342	SCP2	OMIM:613724
HP:0011805	Abnormal skeletal muscle morphology	10262	SF3B4	OMIM:154400
HP:0011805	Abnormal skeletal muscle morphology	9759	HDAC4	ORPHA:1001
HP:0011805	Abnormal skeletal muscle morphology	64220	STRA6	OMIM:601186
HP:0011805	Abnormal skeletal muscle morphology	64220	STRA6	ORPHA:2470
HP:0011805	Abnormal skeletal muscle morphology	374654	KIF7	ORPHA:36
HP:0011805	Abnormal skeletal muscle morphology	1349	COX7B	OMIM:300887
HP:0011805	Abnormal skeletal muscle morphology	1349	COX7B	ORPHA:2556
HP:0011805	Abnormal skeletal muscle morphology	1349	COX7B	OMIM:309801
HP:0011805	Abnormal skeletal muscle morphology	55784	MCTP2	ORPHA:1596
HP:0011805	Abnormal skeletal muscle morphology	7403	KDM6A	ORPHA:2322
HP:0011805	Abnormal skeletal muscle morphology	30008	EFEMP2	OMIM:614437
HP:0011805	Abnormal skeletal muscle morphology	5915	RARB	OMIM:615524
HP:0011805	Abnormal skeletal muscle morphology	5915	RARB	ORPHA:2470
HP:0011805	Abnormal skeletal muscle morphology	1717	DHCR7	ORPHA:818
HP:0011805	Abnormal skeletal muscle morphology	51132	RLIM	OMIM:300978
HP:0011805	Abnormal skeletal muscle morphology	51434	ANAPC7	OMIM:619699
HP:0011805	Abnormal skeletal muscle morphology	1147	CHUK	OMIM:613630
HP:0011805	Abnormal skeletal muscle morphology	3052	HCCS	ORPHA:2556
HP:0011805	Abnormal skeletal muscle morphology	3052	HCCS	OMIM:309801
HP:0011805	Abnormal skeletal muscle morphology	2626	GATA4	ORPHA:251071
HP:0011805	Abnormal skeletal muscle morphology	54872	PIGG	ORPHA:280
HP:0011805	Abnormal skeletal muscle morphology	7469	NELFA	ORPHA:280
HP:0011805	Abnormal skeletal muscle morphology	4330	MN1	OMIM:618774
HP:0011805	Abnormal skeletal muscle morphology	4036	LRP2	ORPHA:2143
HP:0011805	Abnormal skeletal muscle morphology	4036	LRP2	OMIM:222448
HP:0011805	Abnormal skeletal muscle morphology	10046	MAMLD1	ORPHA:95706
HP:0011805	Abnormal skeletal muscle morphology	57216	VANGL2	ORPHA:563609
HP:0011805	Abnormal skeletal muscle morphology	23476	BRD4	ORPHA:199
HP:0011805	Abnormal skeletal muscle morphology	9126	SMC3	ORPHA:199
HP:0011805	Abnormal skeletal muscle morphology	55869	HDAC8	ORPHA:199
HP:0011805	Abnormal skeletal muscle morphology	5885	RAD21	ORPHA:199
HP:0011805	Abnormal skeletal muscle morphology	10293	TRAIP	OMIM:616777
HP:0011805	Abnormal skeletal muscle morphology	79971	WLS	OMIM:619648
HP:0011805	Abnormal skeletal muscle morphology	745	MYRF	OMIM:618280
HP:0011805	Abnormal skeletal muscle morphology	9786	KIAA0586	OMIM:616546
HP:0011805	Abnormal skeletal muscle morphology	51780	KDM3B	OMIM:618846
HP:0011805	Abnormal skeletal muscle morphology	7473	WNT3	OMIM:273395
HP:0011805	Abnormal skeletal muscle morphology	54361	WNT4	OMIM:611812
HP:0011805	Abnormal skeletal muscle morphology	54361	WNT4	ORPHA:139466
HP:0011805	Abnormal skeletal muscle morphology	25970	SH2B1	ORPHA:261197
HP:0011805	Abnormal skeletal muscle morphology	8295	TRRAP	OMIM:618454
HP:0011805	Abnormal skeletal muscle morphology	5087	PBX1	OMIM:617641
HP:0011805	Abnormal skeletal muscle morphology	4281	MID1	ORPHA:2745
HP:0011805	Abnormal skeletal muscle morphology	51339	DACT1	ORPHA:63260
HP:0011805	Abnormal skeletal muscle morphology	64093	SMOC1	OMIM:206920
HP:0011805	Abnormal skeletal muscle morphology	64093	SMOC1	ORPHA:1106
HP:0011805	Abnormal skeletal muscle morphology	6135	RPL11	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6138	RPL15	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6229	RPS24	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6125	RPL5	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6204	RPS10	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6165	RPL35A	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6223	RPS19	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6232	RPS27	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6231	RPS26	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	11224	RPL35	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6160	RPL31	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6218	RPS17	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6201	RPS7	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6155	RPL27	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6154	RPL26	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6210	RPS15A	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	90121	TSR2	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6141	RPL18	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6235	RPS29	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	6234	RPS28	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	51816	ADA2	ORPHA:124
HP:0011805	Abnormal skeletal muscle morphology	29895	MYL11	OMIM:619110
HP:0011805	Abnormal skeletal muscle morphology	9719	ADAMTSL2	OMIM:231050
HP:0011805	Abnormal skeletal muscle morphology	4313	MMP2	OMIM:259600
HP:0011805	Abnormal skeletal muscle morphology	4921	DDR2	OMIM:618175
HP:0011805	Abnormal skeletal muscle morphology	6910	TBX5	OMIM:142900
HP:0011805	Abnormal skeletal muscle morphology	5889	RAD51C	OMIM:613390
HP:0011805	Abnormal skeletal muscle morphology	9775	EIF4A3	OMIM:268305
HP:0011805	Abnormal skeletal muscle morphology	23291	FBXW11	OMIM:618914
HP:0011805	Abnormal skeletal muscle morphology	3209	HOXA13	OMIM:140000
HP:0011805	Abnormal skeletal muscle morphology	6472	SHMT2	OMIM:619121
HP:0011805	Abnormal skeletal muscle morphology	50964	SOST	OMIM:122860
HP:0011805	Abnormal skeletal muscle morphology	64374	SIL1	OMIM:248800
HP:0011805	Abnormal skeletal muscle morphology	3763	KCNJ6	ORPHA:435628
HP:0011805	Abnormal skeletal muscle morphology	3763	KCNJ6	OMIM:614098
HP:0011805	Abnormal skeletal muscle morphology	9131	AIFM1	OMIM:300232
HP:0011805	Abnormal skeletal muscle morphology	3094	HINT1	ORPHA:324442
HP:0011805	Abnormal skeletal muscle morphology	5393	EXOSC9	OMIM:618065
HP:0011805	Abnormal skeletal muscle morphology	55823	VPS11	OMIM:616683
HP:0011805	Abnormal skeletal muscle morphology	2895	GRID2	OMIM:616204
HP:0011805	Abnormal skeletal muscle morphology	1161	ERCC8	ORPHA:90324
HP:0011805	Abnormal skeletal muscle morphology	1161	ERCC8	ORPHA:90322
HP:0011805	Abnormal skeletal muscle morphology	2074	ERCC6	ORPHA:90324
HP:0011805	Abnormal skeletal muscle morphology	2074	ERCC6	ORPHA:90322
HP:0011805	Abnormal skeletal muscle morphology	2074	ERCC6	OMIM:214150
HP:0011805	Abnormal skeletal muscle morphology	4010	LMX1B	ORPHA:2614
HP:0011805	Abnormal skeletal muscle morphology	775	CACNA1C	OMIM:620029
HP:0011805	Abnormal skeletal muscle morphology	4047	LSS	ORPHA:2850
HP:0011805	Abnormal skeletal muscle morphology	197	AHSG	ORPHA:2850
HP:0011805	Abnormal skeletal muscle morphology	3694	ITGB6	ORPHA:2850
HP:0011805	Abnormal skeletal muscle morphology	5352	PLOD2	OMIM:609220
HP:0011805	Abnormal skeletal muscle morphology	64324	NSD1	ORPHA:821
HP:0011805	Abnormal skeletal muscle morphology	29072	SETD2	ORPHA:821
HP:0011805	Abnormal skeletal muscle morphology	10297	APC2	ORPHA:821
HP:0011805	Abnormal skeletal muscle morphology	2067	ERCC1	ORPHA:90322
HP:0011805	Abnormal skeletal muscle morphology	5447	POR	ORPHA:95699
HP:0011805	Abnormal skeletal muscle morphology	5447	POR	OMIM:207410
HP:0011805	Abnormal skeletal muscle morphology	4072	EPCAM	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	4292	MLH1	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	5395	PMS2	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	27030	MLH3	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	22909	FAN1	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	7048	TGFBR2	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	3845	KRAS	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	2956	MSH6	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	5378	PMS1	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	4436	MSH2	ORPHA:144
HP:0011805	Abnormal skeletal muscle morphology	4312	MMP1	ORPHA:79408
HP:0011805	Abnormal skeletal muscle morphology	4312	MMP1	OMIM:226600
HP:0011805	Abnormal skeletal muscle morphology	1294	COL7A1	ORPHA:79408
HP:0011805	Abnormal skeletal muscle morphology	1294	COL7A1	OMIM:226600
HP:0011805	Abnormal skeletal muscle morphology	1294	COL7A1	ORPHA:89842
HP:0011805	Abnormal skeletal muscle morphology	10479	SLC9A6	OMIM:300243
HP:0011805	Abnormal skeletal muscle morphology	6775	STAT4	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	3560	IL2RB	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	79722	ANKRD55	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	26191	PTPN22	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	919	CD247	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	3559	IL2RA	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	5771	PTPN2	ORPHA:85408
HP:0011805	Abnormal skeletal muscle morphology	8443	GNPAT	OMIM:222765
HP:0011805	Abnormal skeletal muscle morphology	54968	TMEM70	ORPHA:1194
HP:0011805	Abnormal skeletal muscle morphology	3020	H3-3A	OMIM:619720
HP:0011805	Abnormal skeletal muscle morphology	6536	SLC6A9	OMIM:617301
HP:0011805	Abnormal skeletal muscle morphology	131377	KLHL40	ORPHA:171430
HP:0011805	Abnormal skeletal muscle morphology	131377	KLHL40	OMIM:615348
HP:0011805	Abnormal skeletal muscle morphology	64218	SEMA4A	ORPHA:440437
HP:0011805	Abnormal skeletal muscle morphology	657	BMPR1A	ORPHA:440437
HP:0011805	Abnormal skeletal muscle morphology	6224	RPS20	ORPHA:440437
HP:0011805	Abnormal skeletal muscle morphology	65082	VPS33A	OMIM:617303
HP:0011805	Abnormal skeletal muscle morphology	65082	VPS33A	ORPHA:505248
HP:0011805	Abnormal skeletal muscle morphology	25914	RTTN	OMIM:614833
HP:0011805	Abnormal skeletal muscle morphology	128486	FITM2	OMIM:618635
HP:0011805	Abnormal skeletal muscle morphology	23431	AP4E1	OMIM:613744
HP:0011805	Abnormal skeletal muscle morphology	3908	LAMA2	ORPHA:258
HP:0011805	Abnormal skeletal muscle morphology	3908	LAMA2	OMIM:607855
HP:0011805	Abnormal skeletal muscle morphology	6595	SMARCA2	OMIM:619293
HP:0011805	Abnormal skeletal muscle morphology	1146	CHRNG	OMIM:265000
HP:0011805	Abnormal skeletal muscle morphology	1146	CHRNG	OMIM:253290
HP:0011805	Abnormal skeletal muscle morphology	23250	ATP11A	OMIM:619851
HP:0011805	Abnormal skeletal muscle morphology	7345	UCHL1	OMIM:615491
HP:0011805	Abnormal skeletal muscle morphology	9469	CHST3	OMIM:143095
HP:0011805	Abnormal skeletal muscle morphology	9469	CHST3	ORPHA:263463
HP:0011805	Abnormal skeletal muscle morphology	50814	NSDHL	OMIM:308050
HP:0011805	Abnormal skeletal muscle morphology	1889	ECE1	OMIM:613870
HP:0011805	Abnormal skeletal muscle morphology	3423	IDS	ORPHA:217085
HP:0011805	Abnormal skeletal muscle morphology	3423	IDS	OMIM:309900
HP:0011805	Abnormal skeletal muscle morphology	3423	IDS	ORPHA:217093
HP:0011805	Abnormal skeletal muscle morphology	9326	ZNHIT3	ORPHA:2836
HP:0011805	Abnormal skeletal muscle morphology	55157	DARS2	ORPHA:137898
HP:0011805	Abnormal skeletal muscle morphology	55157	DARS2	OMIM:611105
HP:0011805	Abnormal skeletal muscle morphology	8560	DEGS1	OMIM:618404
HP:0011805	Abnormal skeletal muscle morphology	8398	PLA2G6	ORPHA:35069
HP:0011805	Abnormal skeletal muscle morphology	546	ATRX	ORPHA:847
HP:0011805	Abnormal skeletal muscle morphology	3339	HSPG2	ORPHA:1865
HP:0011805	Abnormal skeletal muscle morphology	3848	KRT1	ORPHA:79503
HP:0011805	Abnormal skeletal muscle morphology	56984	PSMG2	OMIM:619183
HP:0011805	Abnormal skeletal muscle morphology	9839	ZEB2	ORPHA:261552
HP:0011805	Abnormal skeletal muscle morphology	9839	ZEB2	ORPHA:261537
HP:0011805	Abnormal skeletal muscle morphology	8726	EED	OMIM:617561
HP:0011805	Abnormal skeletal muscle morphology	57190	SELENON	ORPHA:2020
HP:0011805	Abnormal skeletal muscle morphology	57190	SELENON	OMIM:602771
HP:0011805	Abnormal skeletal muscle morphology	4633	MYL2	ORPHA:2020
HP:0011805	Abnormal skeletal muscle morphology	3679	ITGA7	ORPHA:2020
HP:0011805	Abnormal skeletal muscle morphology	9200	HACD1	ORPHA:2020
HP:0011805	Abnormal skeletal muscle morphology	22872	SEC31A	OMIM:618651
HP:0011805	Abnormal skeletal muscle morphology	833	CARS1	OMIM:618891
HP:0011805	Abnormal skeletal muscle morphology	84314	TMEM107	OMIM:617562
HP:0011805	Abnormal skeletal muscle morphology	10682	EBP	ORPHA:35173
HP:0011805	Abnormal skeletal muscle morphology	1641	DCX	ORPHA:2148
HP:0011805	Abnormal skeletal muscle morphology	6491	STIL	ORPHA:93926
HP:0011805	Abnormal skeletal muscle morphology	6491	STIL	ORPHA:93924
HP:0011805	Abnormal skeletal muscle morphology	6491	STIL	ORPHA:93925
HP:0011805	Abnormal skeletal muscle morphology	6491	STIL	ORPHA:220386
HP:0011805	Abnormal skeletal muscle morphology	2783	GNB2	OMIM:619503
HP:0011805	Abnormal skeletal muscle morphology	4632	MYL1	OMIM:618414
HP:0011805	Abnormal skeletal muscle morphology	2752	GLUL	OMIM:610015
HP:0011805	Abnormal skeletal muscle morphology	23007	PLCH1	ORPHA:93925
HP:0011805	Abnormal skeletal muscle morphology	10735	STAG2	ORPHA:93925
HP:0011805	Abnormal skeletal muscle morphology	10735	STAG2	ORPHA:220386
HP:0011805	Abnormal skeletal muscle morphology	3782	KCNN3	OMIM:618658
HP:0011805	Abnormal skeletal muscle morphology	3425	IDUA	OMIM:607014
HP:0011805	Abnormal skeletal muscle morphology	5373	PMM2	OMIM:212065
HP:0011805	Abnormal skeletal muscle morphology	11285	B4GALT7	OMIM:130070
HP:0011805	Abnormal skeletal muscle morphology	11285	B4GALT7	ORPHA:75496
HP:0011805	Abnormal skeletal muscle morphology	10717	AP4B1	OMIM:614066
HP:0011805	Abnormal skeletal muscle morphology	149371	EXOC8	OMIM:619076
HP:0011805	Abnormal skeletal muscle morphology	11154	AP4S1	OMIM:614067
HP:0011805	Abnormal skeletal muscle morphology	2629	GBA1	ORPHA:85212
HP:0011805	Abnormal skeletal muscle morphology	2629	GBA1	ORPHA:77260
HP:0011805	Abnormal skeletal muscle morphology	55699	IARS2	OMIM:616007
HP:0011805	Abnormal skeletal muscle morphology	9289	ADGRG1	ORPHA:98889
HP:0011805	Abnormal skeletal muscle morphology	5297	PI4KA	ORPHA:98889
HP:0011805	Abnormal skeletal muscle morphology	27286	SRPX2	ORPHA:98889
HP:0011805	Abnormal skeletal muscle morphology	11128	POLR3A	OMIM:264090
HP:0011805	Abnormal skeletal muscle morphology	57152	SLURP1	ORPHA:87503
HP:0011805	Abnormal skeletal muscle morphology	27086	FOXP1	ORPHA:391372
HP:0011805	Abnormal skeletal muscle morphology	773	CACNA1A	OMIM:617106
HP:0011805	Abnormal skeletal muscle morphology	6506	SLC1A2	OMIM:617105
HP:0011805	Abnormal skeletal muscle morphology	388015	RTL1	ORPHA:96334
HP:0011805	Abnormal skeletal muscle morphology	388015	RTL1	ORPHA:254528
HP:0011805	Abnormal skeletal muscle morphology	8788	DLK1	ORPHA:96334
HP:0011805	Abnormal skeletal muscle morphology	8788	DLK1	ORPHA:254528
HP:0011805	Abnormal skeletal muscle morphology	55384	MEG3	ORPHA:96334
HP:0011805	Abnormal skeletal muscle morphology	55384	MEG3	ORPHA:254528
HP:0011805	Abnormal skeletal muscle morphology	51085	MLXIPL	OMIM:194050
HP:0011805	Abnormal skeletal muscle morphology	2006	ELN	OMIM:194050
HP:0011805	Abnormal skeletal muscle morphology	487	ATP2A1	OMIM:601003
HP:0011805	Abnormal skeletal muscle morphology	427	ASAH1	ORPHA:2590
HP:0011805	Abnormal skeletal muscle morphology	427	ASAH1	ORPHA:333
HP:0011805	Abnormal skeletal muscle morphology	4677	NARS1	OMIM:619091
HP:0011805	Abnormal skeletal muscle morphology	8242	KDM5C	OMIM:300534
HP:0011805	Abnormal skeletal muscle morphology	22906	TRAK1	OMIM:618201
HP:0011805	Abnormal skeletal muscle morphology	55612	FERMT1	ORPHA:2908
HP:0011805	Abnormal skeletal muscle morphology	81031	SLC2A10	OMIM:208050
HP:0011805	Abnormal skeletal muscle morphology	5692	PSMB4	OMIM:617591
HP:0011805	Abnormal skeletal muscle morphology	5698	PSMB9	OMIM:617591
HP:0011805	Abnormal skeletal muscle morphology	339855	KY	OMIM:617114
HP:0011805	Abnormal skeletal muscle morphology	3977	LIFR	ORPHA:3206
HP:0011805	Abnormal skeletal muscle morphology	51227	PIGP	OMIM:617599
HP:0011805	Abnormal skeletal muscle morphology	55275	VPS53	OMIM:615851
HP:0011805	Abnormal skeletal muscle morphology	10195	ALG3	OMIM:601110
HP:0011805	Abnormal skeletal muscle morphology	6567	SLC16A2	ORPHA:59
HP:0011805	Abnormal skeletal muscle morphology	6567	SLC16A2	OMIM:300523
HP:0011805	Abnormal skeletal muscle morphology	91252	SLC39A13	ORPHA:157965
HP:0011805	Abnormal skeletal muscle morphology	171023	ASXL1	OMIM:605039
HP:0011805	Abnormal skeletal muscle morphology	1387	CREBBP	OMIM:618332
HP:0011805	Abnormal skeletal muscle morphology	1387	CREBBP	OMIM:180849
HP:0011805	Abnormal skeletal muscle morphology	81570	CLPB	OMIM:616271
HP:0011805	Abnormal skeletal muscle morphology	54101	RIPK4	OMIM:263650
HP:0011805	Abnormal skeletal muscle morphology	667	DST	OMIM:614653
HP:0011805	Abnormal skeletal muscle morphology	3329	HSPD1	OMIM:612233
HP:0011805	Abnormal skeletal muscle morphology	284119	CAVIN1	OMIM:613327
HP:0011805	Abnormal skeletal muscle morphology	55770	EXOC2	OMIM:619306
HP:0011805	Abnormal skeletal muscle morphology	8905	AP1S2	OMIM:304340
HP:0011805	Abnormal skeletal muscle morphology	4001	LMNB1	ORPHA:99027
HP:0011805	Abnormal skeletal muscle morphology	389827	MYMK	OMIM:254940
HP:0011805	Abnormal skeletal muscle morphology	23592	LEMD3	OMIM:166700
HP:0011805	Abnormal skeletal muscle morphology	23592	LEMD3	ORPHA:1306
HP:0011805	Abnormal skeletal muscle morphology	56052	ALG1	OMIM:608540
HP:0011805	Abnormal skeletal muscle morphology	10075	HUWE1	OMIM:309590
HP:0011805	Abnormal skeletal muscle morphology	7051	TGM1	OMIM:242300
HP:0011805	Abnormal skeletal muscle morphology	9663	LPIN2	OMIM:609628
HP:0011805	Abnormal skeletal muscle morphology	9663	LPIN2	ORPHA:77297
HP:0011805	Abnormal skeletal muscle morphology	84706	GPT2	OMIM:616281
HP:0011805	Abnormal skeletal muscle morphology	10785	WDR4	OMIM:618346
HP:0011805	Abnormal skeletal muscle morphology	579	NKX3-2	OMIM:613330
HP:0011805	Abnormal skeletal muscle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011805	Abnormal skeletal muscle morphology	1756	DMD	OMIM:310200
HP:0011805	Abnormal skeletal muscle morphology	1756	DMD	ORPHA:98896
HP:0011805	Abnormal skeletal muscle morphology	9526	MPDU1	OMIM:609180
HP:0011805	Abnormal skeletal muscle morphology	203547	VMA21	OMIM:310440
HP:0011805	Abnormal skeletal muscle morphology	256297	PTF1A	OMIM:609069
HP:0011805	Abnormal skeletal muscle morphology	411	ARSB	OMIM:253200
HP:0011805	Abnormal skeletal muscle morphology	1302	COL11A2	OMIM:215150
HP:0011805	Abnormal skeletal muscle morphology	79868	ALG13	OMIM:300884
HP:0011805	Abnormal skeletal muscle morphology	6651	SON	OMIM:617140
HP:0011805	Abnormal skeletal muscle morphology	8882	ZPR1	OMIM:619321
HP:0011805	Abnormal skeletal muscle morphology	10229	COQ7	OMIM:616733
HP:0011805	Abnormal skeletal muscle morphology	1836	SLC26A2	ORPHA:93307
HP:0011805	Abnormal skeletal muscle morphology	2263	FGFR2	OMIM:207410
HP:0011805	Abnormal skeletal muscle morphology	112939	NACC1	ORPHA:500545
HP:0011805	Abnormal skeletal muscle morphology	29078	NDUFAF4	OMIM:618237
HP:0011805	Abnormal skeletal muscle morphology	5831	PYCR1	OMIM:614438
HP:0011805	Abnormal skeletal muscle morphology	5010	CLDN11	OMIM:619328
HP:0011805	Abnormal skeletal muscle morphology	51010	EXOSC3	OMIM:614678
HP:0011805	Abnormal skeletal muscle morphology	23729	SHPK	ORPHA:440713
HP:0011805	Abnormal skeletal muscle morphology	10651	MTX2	ORPHA:90153
HP:0011805	Abnormal skeletal muscle morphology	10651	MTX2	OMIM:619127
HP:0011805	Abnormal skeletal muscle morphology	4204	MECP2	OMIM:300055
HP:0011805	Abnormal skeletal muscle morphology	3039	HBA1	ORPHA:98791
HP:0011805	Abnormal skeletal muscle morphology	3040	HBA2	ORPHA:98791
HP:0011805	Abnormal skeletal muscle morphology	10940	POP1	OMIM:617396
HP:0011805	Abnormal skeletal muscle morphology	4998	ORC1	OMIM:224690
HP:0011805	Abnormal skeletal muscle morphology	11253	MAN1B1	OMIM:614202
HP:0011805	Abnormal skeletal muscle morphology	2072	ERCC4	OMIM:278760
HP:0011805	Abnormal skeletal muscle morphology	6331	SCN5A	ORPHA:1344
HP:0011805	Abnormal skeletal muscle morphology	4878	NPPA	ORPHA:1344
HP:0011805	Abnormal skeletal muscle morphology	1280	COL2A1	OMIM:609162
HP:0011805	Abnormal skeletal muscle morphology	54551	MAGEL2	ORPHA:398069
HP:0011805	Abnormal skeletal muscle morphology	54551	MAGEL2	OMIM:615547
HP:0011805	Abnormal skeletal muscle morphology	7965	AIMP2	OMIM:618006
HP:0011805	Abnormal skeletal muscle morphology	51008	ASCC1	OMIM:616867
HP:0011805	Abnormal skeletal muscle morphology	57211	ADGRG6	OMIM:616503
HP:0011805	Abnormal skeletal muscle morphology	29920	PYCR2	ORPHA:481152
HP:0011805	Abnormal skeletal muscle morphology	9361	LONP1	ORPHA:79243
HP:0011805	Abnormal skeletal muscle morphology	5160	PDHA1	ORPHA:79243
HP:0011805	Abnormal skeletal muscle morphology	91647	ATPAF2	OMIM:604273
HP:0011805	Abnormal skeletal muscle morphology	2068	ERCC2	OMIM:601675
HP:0011805	Abnormal skeletal muscle morphology	11342	RNF13	OMIM:618379
HP:0011805	Abnormal skeletal muscle morphology	11342	RNF13	ORPHA:544503
HP:0011805	Abnormal skeletal muscle morphology	8802	SUCLG1	ORPHA:17
HP:0011805	Abnormal skeletal muscle morphology	79796	ALG9	OMIM:263210
HP:0011805	Abnormal skeletal muscle morphology	84896	ATAD1	OMIM:618011
HP:0011805	Abnormal skeletal muscle morphology	128637	TBC1D20	OMIM:615663
HP:0011805	Abnormal skeletal muscle morphology	25939	SAMHD1	OMIM:612952
HP:0011805	Abnormal skeletal muscle morphology	8425	LTBP4	ORPHA:98896
HP:0011805	Abnormal skeletal muscle morphology	8200	GDF5	OMIM:200700
HP:0011805	Abnormal skeletal muscle morphology	7874	USP7	ORPHA:500055
HP:0011805	Abnormal skeletal muscle morphology	9851	KIAA0753	OMIM:619479
HP:0011805	Abnormal skeletal muscle morphology	35	ACADS	OMIM:201470
HP:0011805	Abnormal skeletal muscle morphology	2033	EP300	OMIM:180849
HP:0011805	Abnormal skeletal muscle morphology	2517	FUCA1	OMIM:230000
HP:0011805	Abnormal skeletal muscle morphology	25782	RAB3GAP2	OMIM:614225
HP:0011805	Abnormal skeletal muscle morphology	1861	TOR1A	OMIM:618947
HP:0011805	Abnormal skeletal muscle morphology	22931	RAB18	OMIM:614222
HP:0011805	Abnormal skeletal muscle morphology	998	CDC42	ORPHA:487796
HP:0011805	Abnormal skeletal muscle morphology	4534	MTM1	OMIM:310400
HP:0011805	Abnormal skeletal muscle morphology	54880	BCOR	OMIM:300166
HP:0011805	Abnormal skeletal muscle morphology	2571	GAD1	OMIM:619124
HP:0011805	Abnormal skeletal muscle morphology	162514	TRPV3	OMIM:614594
HP:0011805	Abnormal skeletal muscle morphology	202018	TAPT1	OMIM:616897
HP:0011805	Abnormal skeletal muscle morphology	126792	B3GALT6	OMIM:271640
HP:0011805	Abnormal skeletal muscle morphology	342035	GLDN	OMIM:617194
HP:0011805	Abnormal skeletal muscle morphology	2176	FANCC	OMIM:227645
HP:0011805	Abnormal skeletal muscle morphology	5538	PPT1	OMIM:256730
HP:0011805	Abnormal skeletal muscle morphology	2990	GUSB	OMIM:253220
HP:0011805	Abnormal skeletal muscle morphology	8243	SMC1A	ORPHA:220386
HP:0011805	Abnormal skeletal muscle morphology	8815	BANF1	OMIM:614008
HP:0011805	Abnormal skeletal muscle morphology	84700	MYO18B	OMIM:616549
HP:0011805	Abnormal skeletal muscle morphology	5354	PLP1	OMIM:312920
HP:0011805	Abnormal skeletal muscle morphology	84081	NSRP1	OMIM:620001
HP:0011805	Abnormal skeletal muscle morphology	23529	CLCF1	ORPHA:1545
HP:0011805	Abnormal skeletal muscle morphology	9244	CRLF1	ORPHA:1545
HP:0011805	Abnormal skeletal muscle morphology	2801	GOLGA2	OMIM:620240
HP:0011805	Abnormal skeletal muscle morphology	224	ALDH3A2	OMIM:270200
HP:0011805	Abnormal skeletal muscle morphology	129285	PPP1R21	OMIM:619383
HP:0011805	Abnormal skeletal muscle morphology	84842	HPDL	OMIM:619026
HP:0011805	Abnormal skeletal muscle morphology	22978	NT5C2	OMIM:613162
HP:0011805	Abnormal skeletal muscle morphology	221692	PHACTR1	OMIM:618298
HP:0011805	Abnormal skeletal muscle morphology	1235	CCR6	ORPHA:220393
HP:0011805	Abnormal skeletal muscle morphology	1490	CCN2	ORPHA:220393
HP:0011805	Abnormal skeletal muscle morphology	3663	IRF5	ORPHA:220393
HP:0011805	Abnormal skeletal muscle morphology	857	CAV1	ORPHA:220393
HP:0011805	Abnormal skeletal muscle morphology	3123	HLA-DRB1	ORPHA:220393
HP:0011805	Abnormal skeletal muscle morphology	5696	PSMB8	OMIM:256040
HP:0011805	Abnormal skeletal muscle morphology	246329	STAC3	OMIM:255995
HP:0011805	Abnormal skeletal muscle morphology	29926	GMPPA	ORPHA:869
HP:0011805	Abnormal skeletal muscle morphology	8086	AAAS	ORPHA:869
HP:0011805	Abnormal skeletal muscle morphology	22943	DKK1	ORPHA:268882
HP:0011805	Abnormal skeletal muscle morphology	57531	HACE1	ORPHA:464282
HP:0011805	Abnormal skeletal muscle morphology	347733	TUBB2B	OMIM:610031
HP:0011805	Abnormal skeletal muscle morphology	10381	TUBB3	ORPHA:300570
HP:0011805	Abnormal skeletal muscle morphology	10381	TUBB3	OMIM:600638
HP:0011805	Abnormal skeletal muscle morphology	401	PHOX2A	OMIM:602078
HP:0011805	Abnormal skeletal muscle morphology	55605	KIF21A	OMIM:135700
HP:0011805	Abnormal skeletal muscle morphology	79776	ZFHX4	ORPHA:91411
HP:0011805	Abnormal skeletal muscle morphology	2294	FOXF1	OMIM:265380
HP:0011805	Abnormal skeletal muscle morphology	10584	COLEC10	OMIM:248340
HP:0011805	Abnormal skeletal muscle morphology	10584	COLEC10	ORPHA:293843
HP:0011805	Abnormal skeletal muscle morphology	145173	B3GLCT	OMIM:261540
HP:0011805	Abnormal skeletal muscle morphology	5648	MASP1	OMIM:257920
HP:0011805	Abnormal skeletal muscle morphology	5648	MASP1	ORPHA:293843
HP:0011805	Abnormal skeletal muscle morphology	9091	PIGQ	OMIM:618548
HP:0011805	Abnormal skeletal muscle morphology	63916	ELMO2	OMIM:606893
HP:0011805	Abnormal skeletal muscle morphology	283120	H19	ORPHA:231140
HP:0011805	Abnormal skeletal muscle morphology	55553	SOX6	OMIM:618971
HP:0011805	Abnormal skeletal muscle morphology	2475	MTOR	ORPHA:457485
HP:0011805	Abnormal skeletal muscle morphology	2475	MTOR	OMIM:616638
HP:0011805	Abnormal skeletal muscle morphology	55012	PPP2R3C	OMIM:618419
HP:0011805	Abnormal skeletal muscle morphology	54888	NSUN2	OMIM:611091
HP:0011805	Abnormal skeletal muscle morphology	3728	JUP	ORPHA:158687
HP:0011805	Abnormal skeletal muscle morphology	91179	SCARF2	OMIM:600920
HP:0011805	Abnormal skeletal muscle morphology	8367	H4C5	OMIM:619950
HP:0011805	Abnormal skeletal muscle morphology	26128	KIFBP	OMIM:609460
HP:0011805	Abnormal skeletal muscle morphology	25977	NECAP1	OMIM:615833
HP:0011805	Abnormal skeletal muscle morphology	25977	NECAP1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	55325	UFSP2	OMIM:620028
HP:0011805	Abnormal skeletal muscle morphology	80222	TARS2	OMIM:615918
HP:0011805	Abnormal skeletal muscle morphology	7343	UBTF	ORPHA:500180
HP:0011805	Abnormal skeletal muscle morphology	2258	FGF13	OMIM:301058
HP:0011805	Abnormal skeletal muscle morphology	2258	FGF13	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	51611	DPH5	OMIM:620070
HP:0011805	Abnormal skeletal muscle morphology	56521	DNAJC12	OMIM:617384
HP:0011805	Abnormal skeletal muscle morphology	64801	ARV1	OMIM:617020
HP:0011805	Abnormal skeletal muscle morphology	64801	ARV1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	9578	CDC42BPB	OMIM:619841
HP:0011805	Abnormal skeletal muscle morphology	440138	ALG11	ORPHA:280071
HP:0011805	Abnormal skeletal muscle morphology	10300	KATNB1	OMIM:616212
HP:0011805	Abnormal skeletal muscle morphology	23310	NCAPD3	OMIM:617984
HP:0011805	Abnormal skeletal muscle morphology	10978	CLP1	OMIM:615803
HP:0011805	Abnormal skeletal muscle morphology	23065	EMC1	ORPHA:480898
HP:0011805	Abnormal skeletal muscle morphology	23065	EMC1	OMIM:616875
HP:0011805	Abnormal skeletal muscle morphology	55691	FRMD4A	ORPHA:466688
HP:0011805	Abnormal skeletal muscle morphology	55252	ASXL2	OMIM:617190
HP:0011805	Abnormal skeletal muscle morphology	1725	DHPS	OMIM:618480
HP:0011805	Abnormal skeletal muscle morphology	25839	COG4	ORPHA:263501
HP:0011805	Abnormal skeletal muscle morphology	25839	COG4	OMIM:613489
HP:0011805	Abnormal skeletal muscle morphology	4718	NDUFC2	OMIM:619170
HP:0011805	Abnormal skeletal muscle morphology	5805	PTS	OMIM:261640
HP:0011805	Abnormal skeletal muscle morphology	23221	RHOBTB2	OMIM:618004
HP:0011805	Abnormal skeletal muscle morphology	440	ASNS	OMIM:615574
HP:0011805	Abnormal skeletal muscle morphology	8913	CACNA1G	OMIM:618087
HP:0011805	Abnormal skeletal muscle morphology	8120	AP3B2	OMIM:617276
HP:0011805	Abnormal skeletal muscle morphology	8120	AP3B2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2917	GRM7	OMIM:618922
HP:0011805	Abnormal skeletal muscle morphology	5095	PCCA	OMIM:606054
HP:0011805	Abnormal skeletal muscle morphology	5096	PCCB	OMIM:606054
HP:0011805	Abnormal skeletal muscle morphology	57599	WDR48	ORPHA:401800
HP:0011805	Abnormal skeletal muscle morphology	2906	GRIN2D	OMIM:617162
HP:0011805	Abnormal skeletal muscle morphology	2906	GRIN2D	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	10243	GPHN	OMIM:615501
HP:0011805	Abnormal skeletal muscle morphology	3737	KCNA2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	1759	DNM1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	10991	SLC38A3	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	51343	FZR1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2566	GABRG2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	1917	EEF1A2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2561	GABRB2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	7532	YWHAG	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	79876	UBA5	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	6328	SCN3A	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2558	GABRA5	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	781	CACNA2D1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	116150	NUS1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	10659	CELF2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	774	CACNA1B	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	51741	WWOX	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	23334	SZT2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	51412	ACTL6B	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	348980	HCN1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	3745	KCNB1	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	284111	SLC13A5	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	284111	SLC13A5	OMIM:615905
HP:0011805	Abnormal skeletal muscle morphology	6334	SCN8A	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	22866	CNKSR2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	9568	GABBR2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2555	GABRA2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	26999	CYFIP2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	4915	NTRK2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	25973	PARS2	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	23097	CDK19	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	79947	DHDDS	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	2257	FGF12	ORPHA:442835
HP:0011805	Abnormal skeletal muscle morphology	57572	DOCK6	OMIM:614219
HP:0011805	Abnormal skeletal muscle morphology	59336	PRDM13	OMIM:619909
HP:0011805	Abnormal skeletal muscle morphology	8575	PRKRA	OMIM:612067
HP:0011805	Abnormal skeletal muscle morphology	777	CACNA1E	OMIM:618285
HP:0011805	Abnormal skeletal muscle morphology	100128927	ZBTB42	OMIM:616248
HP:0011805	Abnormal skeletal muscle morphology	9496	TBX4	ORPHA:261279
HP:0011805	Abnormal skeletal muscle morphology	26053	AUTS2	ORPHA:352490
HP:0011805	Abnormal skeletal muscle morphology	26153	KIF26A	OMIM:620156
HP:0011805	Abnormal skeletal muscle morphology	1718	DHCR24	OMIM:602398
HP:0011805	Abnormal skeletal muscle morphology	55627	SMPD4	OMIM:618622
HP:0011805	Abnormal skeletal muscle morphology	55593	OTUD5	OMIM:301056
HP:0011805	Abnormal skeletal muscle morphology	56975	FAM20C	OMIM:259775
HP:0011805	Abnormal skeletal muscle morphology	63925	ZNF335	OMIM:615095
HP:0011805	Abnormal skeletal muscle morphology	1020	CDK5	OMIM:616342
HP:0011805	Abnormal skeletal muscle morphology	5119	CHMP1A	OMIM:614961
HP:0011805	Abnormal skeletal muscle morphology	91869	RFT1	ORPHA:244310
HP:0011805	Abnormal skeletal muscle morphology	26276	VPS33B	OMIM:208085
HP:0011805	Abnormal skeletal muscle morphology	63894	VIPAS39	OMIM:613404
HP:0011805	Abnormal skeletal muscle morphology	23265	EXOC7	OMIM:619072
HP:0011805	Abnormal skeletal muscle morphology	1182	CLCN3	OMIM:619512
HP:0011805	Abnormal skeletal muscle morphology	5530	PPP3CA	OMIM:618265
HP:0011805	Abnormal skeletal muscle morphology	55165	CEP55	OMIM:236500
HP:0011805	Abnormal skeletal muscle morphology	3800	KIF5C	OMIM:615282
HP:0011805	Abnormal skeletal muscle morphology	9928	KIF14	OMIM:616258
HP:0011805	Abnormal skeletal muscle morphology	3911	LAMA5	OMIM:620076
HP:0011805	Abnormal skeletal muscle morphology	3417	IDH1	ORPHA:99646
HP:0011805	Abnormal skeletal muscle morphology	5981	RFC1	ORPHA:504476
HP:0011805	Abnormal skeletal muscle morphology	404672	GTF2H5	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	7737	RNF113A	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	136647	MPLKIP	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	6897	TARS1	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	2071	ERCC3	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	2961	GTF2E2	ORPHA:33364
HP:0011805	Abnormal skeletal muscle morphology	545	ATR	OMIM:210600
HP:0011805	Abnormal skeletal muscle morphology	84065	TMEM222	OMIM:619470
HP:0011805	Abnormal skeletal muscle morphology	3835	KIF22	ORPHA:93360
HP:0011805	Abnormal skeletal muscle morphology	6628	SNRPB	OMIM:117650
HP:0011805	Abnormal skeletal muscle morphology	340419	RSPO2	OMIM:618022
HP:0011805	Abnormal skeletal muscle morphology	23233	EXOC6B	ORPHA:93359
HP:0011805	Abnormal skeletal muscle morphology	25836	NIPBL	OMIM:122470
HP:0011805	Abnormal skeletal muscle morphology	7476	WNT7A	OMIM:276820
HP:0011805	Abnormal skeletal muscle morphology	26229	B3GAT3	OMIM:245600
HP:0011805	Abnormal skeletal muscle morphology	215	ABCD1	ORPHA:139396
HP:0011805	Abnormal skeletal muscle morphology	11160	ERLIN2	ORPHA:280384
HP:0011805	Abnormal skeletal muscle morphology	29968	PSAT1	ORPHA:284417
HP:0011805	Abnormal skeletal muscle morphology	51102	MECR	OMIM:617282
HP:0011805	Abnormal skeletal muscle morphology	51633	OTUD6B	ORPHA:505237
HP:0011805	Abnormal skeletal muscle morphology	170302	ARX	OMIM:300004
HP:0011805	Abnormal skeletal muscle morphology	8506	CNTNAP1	OMIM:618186
HP:0011805	Abnormal skeletal muscle morphology	23516	SLC39A14	OMIM:617013
HP:0011805	Abnormal skeletal muscle morphology	57679	ALS2	OMIM:205100
HP:0011805	Abnormal skeletal muscle morphology	7170	TPM3	OMIM:255310
HP:0011805	Abnormal skeletal muscle morphology	2902	GRIN1	OMIM:619814
HP:0011805	Abnormal skeletal muscle morphology	55131	RBM28	OMIM:612079
HP:0011805	Abnormal skeletal muscle morphology	7355	SLC35A2	ORPHA:356961
HP:0011805	Abnormal skeletal muscle morphology	2157	F8	ORPHA:169802
HP:0011805	Abnormal skeletal muscle morphology	51091	SEPSECS	OMIM:613811
HP:0011805	Abnormal skeletal muscle morphology	819	CAMLG	OMIM:620201
HP:0011805	Abnormal skeletal muscle morphology	5277	PIGA	OMIM:301072
HP:0011805	Abnormal skeletal muscle morphology	55768	NGLY1	ORPHA:404454
HP:0011805	Abnormal skeletal muscle morphology	10269	ZMPSTE24	OMIM:275210
HP:0011805	Abnormal skeletal muscle morphology	59341	TRPV4	ORPHA:93314
HP:0011805	Abnormal skeletal muscle morphology	1308	COL17A1	ORPHA:251393
HP:0011805	Abnormal skeletal muscle morphology	3691	ITGB4	ORPHA:251393
HP:0011805	Abnormal skeletal muscle morphology	9015	TAF1A	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7112	TMPO	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	9464	HAND2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	10486	CAP2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	10060	ABCC9	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7168	TPM1	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7414	VCL	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	1832	DSP	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	70	ACTC1	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	27063	ANKRD1	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	8048	CSRP3	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7139	TNNT2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	1829	DSG2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	3910	LAMA4	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	63976	PRDM16	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	63976	PRDM16	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	10587	TXNRD2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	5350	PLN	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	91624	NEXN	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	79717	PPCS	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	4624	MYH6	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	9529	BAG5	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	4607	MYBPC3	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	4607	MYBPC3	OMIM:115197
HP:0011805	Abnormal skeletal muscle morphology	282996	RBM20	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7137	TNNI3	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	2274	FHL2	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	6901	TAFAZZIN	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	22845	DOLK	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	57798	GATAD1	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	7134	TNNC1	ORPHA:154
HP:0011805	Abnormal skeletal muscle morphology	80308	FLAD1	OMIM:255100
HP:0011805	Abnormal skeletal muscle morphology	2671	GFER	OMIM:613076
HP:0011805	Abnormal skeletal muscle morphology	113189	CHST14	ORPHA:2953
HP:0011805	Abnormal skeletal muscle morphology	92579	G6PC3	OMIM:612541
HP:0011805	Abnormal skeletal muscle morphology	84823	LMNB2	ORPHA:79087
HP:0011805	Abnormal skeletal muscle morphology	7498	XDH	OMIM:278300
HP:0011805	Abnormal skeletal muscle morphology	4576	MT-TT	OMIM:551000
HP:0011805	Abnormal skeletal muscle morphology	5590	PRKCZ	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	2563	GABRD	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	23013	SPEN	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	8510	MMP23B	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	7798	LUZP1	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	10630	PDPN	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	10277	UBE4B	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	8514	KCNAB2	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	473	RERE	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	54897	CASZ1	ORPHA:1606
HP:0011805	Abnormal skeletal muscle morphology	493856	CISD2	ORPHA:3463
HP:0011805	Abnormal skeletal muscle morphology	7466	WFS1	ORPHA:3463
HP:0011805	Abnormal skeletal muscle morphology	4539	MT-ND4L	ORPHA:104
HP:0011805	Abnormal skeletal muscle morphology	4539	MT-ND4L	OMIM:535000
HP:0011805	Abnormal skeletal muscle morphology	80025	PANK2	OMIM:234200
HP:0011805	Abnormal skeletal muscle morphology	2729	GCLC	ORPHA:33574
HP:0011805	Abnormal skeletal muscle morphology	2729	GCLC	OMIM:230450
HP:0011805	Abnormal skeletal muscle morphology	57724	EPG5	OMIM:242840
HP:0011805	Abnormal skeletal muscle morphology	249	ALPL	OMIM:241510
HP:0011805	Abnormal skeletal muscle morphology	5979	RET	OMIM:162300
HP:0011805	Abnormal skeletal muscle morphology	5250	SLC25A3	ORPHA:91130
HP:0011805	Abnormal skeletal muscle morphology	26007	TKFC	ORPHA:1369
HP:0011805	Abnormal skeletal muscle morphology	55750	AGK	ORPHA:1369
HP:0011805	Abnormal skeletal muscle morphology	55750	AGK	OMIM:212350
HP:0011805	Abnormal skeletal muscle morphology	51103	NDUFAF1	OMIM:618234
HP:0011805	Abnormal skeletal muscle morphology	126328	NDUFA11	OMIM:618236
HP:0011805	Abnormal skeletal muscle morphology	1297	COL9A1	ORPHA:166002
HP:0011805	Abnormal skeletal muscle morphology	1298	COL9A2	ORPHA:166002
HP:0011805	Abnormal skeletal muscle morphology	1299	COL9A3	ORPHA:166002
HP:0011805	Abnormal skeletal muscle morphology	708	C1QBP	OMIM:617713
HP:0011805	Abnormal skeletal muscle morphology	1063	CENPF	OMIM:243605
HP:0011805	Abnormal skeletal muscle morphology	4547	MTTP	ORPHA:14
HP:0011805	Abnormal skeletal muscle morphology	2683	B4GALT1	OMIM:607091
HP:0011805	Abnormal skeletal muscle morphology	31	ACACA	OMIM:613933
HP:0011805	Abnormal skeletal muscle morphology	55005	RMND1	OMIM:614922
HP:0011805	Abnormal skeletal muscle morphology	4654	MYOD1	OMIM:618975
HP:0011805	Abnormal skeletal muscle morphology	6584	SLC22A5	OMIM:212140
HP:0011805	Abnormal skeletal muscle morphology	9853	RUSC2	OMIM:617773
HP:0011805	Abnormal skeletal muscle morphology	81839	VANGL1	ORPHA:3027
HP:0011805	Abnormal skeletal muscle morphology	7681	MKRN3	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	3653	IPW	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	791114	PWRN1	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	100033413	SNORD116-1	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	8924	HERC2	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	145624	PWAR1	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	23742	NPAP1	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	338433	SNORD115-1	OMIM:176270
HP:0011805	Abnormal skeletal muscle morphology	2887	GRB10	ORPHA:96182
HP:0011805	Abnormal skeletal muscle morphology	4854	NOTCH3	OMIM:130720
HP:0011805	Abnormal skeletal muscle morphology	2488	FSHB	OMIM:229070
HP:0011805	Abnormal skeletal muscle morphology	23321	TRIM2	OMIM:615490
HP:0011805	Abnormal skeletal muscle morphology	2193	FARSA	OMIM:619013
HP:0011805	Abnormal skeletal muscle morphology	2538	G6PC1	OMIM:232200
HP:0011805	Abnormal skeletal muscle morphology	654	BMP6	ORPHA:465508
HP:0011805	Abnormal skeletal muscle morphology	3077	HFE	ORPHA:465508
HP:0011805	Abnormal skeletal muscle morphology	3295	HSD17B4	OMIM:261515
HP:0011805	Abnormal skeletal muscle morphology	6678	SPARC	OMIM:616507
HP:0011805	Abnormal skeletal muscle morphology	53834	FGFRL1	OMIM:194190
HP:0011805	Abnormal skeletal muscle morphology	7468	NSD2	OMIM:194190
HP:0011805	Abnormal skeletal muscle morphology	10815	CPLX1	OMIM:194190
HP:0011805	Abnormal skeletal muscle morphology	4558	MT-TF	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4558	MT-TF	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4558	MT-TF	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4558	MT-TF	OMIM:545000
HP:0011805	Abnormal skeletal muscle morphology	4549	MT-RNR1	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4574	MT-TS1	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4574	MT-TS1	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4574	MT-TS1	ORPHA:663
HP:0011805	Abnormal skeletal muscle morphology	4574	MT-TS1	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4575	MT-TS2	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4575	MT-TS2	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4575	MT-TS2	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4571	MT-TP	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4571	MT-TP	OMIM:545000
HP:0011805	Abnormal skeletal muscle morphology	4572	MT-TQ	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4572	MT-TQ	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4572	MT-TQ	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4540	MT-ND5	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4540	MT-ND5	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4540	MT-ND5	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4540	MT-ND5	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4566	MT-TK	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4566	MT-TK	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4566	MT-TK	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4566	MT-TK	ORPHA:1349
HP:0011805	Abnormal skeletal muscle morphology	4566	MT-TK	OMIM:545000
HP:0011805	Abnormal skeletal muscle morphology	4564	MT-TH	ORPHA:551
HP:0011805	Abnormal skeletal muscle morphology	4564	MT-TH	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4513	MT-CO2	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4513	MT-CO2	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4578	MT-TW	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4578	MT-TW	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4578	MT-TW	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4541	MT-ND6	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4541	MT-ND6	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4541	MT-ND6	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4535	MT-ND1	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4535	MT-ND1	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4535	MT-ND1	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4538	MT-ND4	ORPHA:550
HP:0011805	Abnormal skeletal muscle morphology	4538	MT-ND4	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	27089	UQCRQ	OMIM:615159
HP:0011805	Abnormal skeletal muscle morphology	92667	MGME1	ORPHA:352447
HP:0011805	Abnormal skeletal muscle morphology	92667	MGME1	OMIM:615084
HP:0011805	Abnormal skeletal muscle morphology	4568	MT-TL2	ORPHA:663
HP:0011805	Abnormal skeletal muscle morphology	4570	MT-TN	ORPHA:663
HP:0011805	Abnormal skeletal muscle morphology	4536	MT-ND2	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4537	MT-ND3	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4577	MT-TV	ORPHA:255210
HP:0011805	Abnormal skeletal muscle morphology	4577	MT-TV	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	79587	CARS2	ORPHA:477774
HP:0011805	Abnormal skeletal muscle morphology	617	BCS1L	OMIM:124000
HP:0011805	Abnormal skeletal muscle morphology	3980	LIG3	ORPHA:298
HP:0011805	Abnormal skeletal muscle morphology	4519	MT-CYB	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	4511	MT-TC	OMIM:540000
HP:0011805	Abnormal skeletal muscle morphology	80224	NUBPL	OMIM:618242
HP:0011805	Abnormal skeletal muscle morphology	124454	EARS2	OMIM:614924
HP:0011805	Abnormal skeletal muscle morphology	4565	MT-TI	OMIM:545000
HP:0011805	Abnormal skeletal muscle morphology	115286	SLC25A26	OMIM:616794
HP:0011805	Abnormal skeletal muscle morphology	51067	YARS2	OMIM:613561
HP:0011805	Abnormal skeletal muscle morphology	125170	MIEF2	OMIM:619024
HP:0011805	Abnormal skeletal muscle morphology	284439	SLC25A42	OMIM:618416
HP:0011805	Abnormal skeletal muscle morphology	81034	SLC25A32	OMIM:616839
HP:0011805	Abnormal skeletal muscle morphology	788	SLC25A20	OMIM:212138
HP:0011805	Abnormal skeletal muscle morphology	788	SLC25A20	ORPHA:159
HP:0011805	Abnormal skeletal muscle morphology	3032	HADHB	ORPHA:746
HP:0011805	Abnormal skeletal muscle morphology	3030	HADHA	ORPHA:746
HP:0011805	Abnormal skeletal muscle morphology	3030	HADHA	OMIM:609015
HP:0011805	Abnormal skeletal muscle morphology	10102	TSFM	OMIM:610505
HP:0011805	Abnormal skeletal muscle morphology	7504	XK	OMIM:300842
HP:0011805	Abnormal skeletal muscle morphology	23600	AMACR	ORPHA:79095
HP:0011805	Abnormal skeletal muscle morphology	3939	LDHA	OMIM:612933
HP:0011805	Abnormal skeletal muscle morphology	5230	PGK1	OMIM:300653
HP:0011805	Abnormal skeletal muscle morphology	5230	PGK1	ORPHA:713
HP:0011805	Abnormal skeletal muscle morphology	513	ATP5F1D	OMIM:618120
HP:0011805	Abnormal skeletal muscle morphology	5236	PGM1	OMIM:614921
HP:0011805	Abnormal skeletal muscle morphology	1376	CPT2	ORPHA:228302
HP:0011805	Abnormal skeletal muscle morphology	1376	CPT2	ORPHA:228305
HP:0011805	Abnormal skeletal muscle morphology	1376	CPT2	OMIM:255110
HP:0011805	Abnormal skeletal muscle morphology	5224	PGAM2	OMIM:261670
HP:0011805	Abnormal skeletal muscle morphology	51693	TRAPPC2L	OMIM:618331
HP:0011805	Abnormal skeletal muscle morphology	6559	SLC12A3	OMIM:263800
HP:0011805	Abnormal skeletal muscle morphology	6559	SLC12A3	ORPHA:358
HP:0011805	Abnormal skeletal muscle morphology	1188	CLCNKB	ORPHA:358
HP:0011805	Abnormal skeletal muscle morphology	1374	CPT1A	ORPHA:156
HP:0011805	Abnormal skeletal muscle morphology	4702	NDUFA8	OMIM:619272
HP:0011805	Abnormal skeletal muscle morphology	1497	CTNS	OMIM:219800
HP:0011805	Abnormal skeletal muscle morphology	158	ADSL	OMIM:103050
HP:0011805	Abnormal skeletal muscle morphology	26235	FBXL4	OMIM:615471
HP:0011805	Abnormal skeletal muscle morphology	104	ADARB1	OMIM:618862
HP:0011805	Abnormal skeletal muscle morphology	83932	SPRTN	OMIM:616200
HP:0011805	Abnormal skeletal muscle morphology	6834	SURF1	OMIM:616684
HP:0011805	Abnormal skeletal muscle morphology	4750	NEK1	OMIM:617892
HP:0011805	Abnormal skeletal muscle morphology	4750	NEK1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	4758	NEU1	OMIM:256550
HP:0011805	Abnormal skeletal muscle morphology	4758	NEU1	ORPHA:812
HP:0011805	Abnormal skeletal muscle morphology	22947	DUX4L1	ORPHA:269
HP:0011805	Abnormal skeletal muscle morphology	100288687	DUX4	ORPHA:269
HP:0011805	Abnormal skeletal muscle morphology	7436	VLDLR	ORPHA:1766
HP:0011805	Abnormal skeletal muscle morphology	124997	WDR81	ORPHA:1766
HP:0011805	Abnormal skeletal muscle morphology	51761	ATP8A2	ORPHA:1766
HP:0011805	Abnormal skeletal muscle morphology	767	CA8	ORPHA:1766
HP:0011805	Abnormal skeletal muscle morphology	10528	NOP56	OMIM:614153
HP:0011805	Abnormal skeletal muscle morphology	10528	NOP56	ORPHA:276198
HP:0011805	Abnormal skeletal muscle morphology	80055	PGAP1	OMIM:615802
HP:0011805	Abnormal skeletal muscle morphology	9197	SLC33A1	OMIM:612539
HP:0011805	Abnormal skeletal muscle morphology	6335	SCN9A	ORPHA:970
HP:0011805	Abnormal skeletal muscle morphology	65125	WNK1	ORPHA:970
HP:0011805	Abnormal skeletal muscle morphology	54463	RETREG1	ORPHA:970
HP:0011805	Abnormal skeletal muscle morphology	6772	STAT1	OMIM:614162
HP:0011805	Abnormal skeletal muscle morphology	7040	TGFB1	OMIM:131300
HP:0011805	Abnormal skeletal muscle morphology	7040	TGFB1	ORPHA:1328
HP:0011805	Abnormal skeletal muscle morphology	340061	STING1	OMIM:615934
HP:0011805	Abnormal skeletal muscle morphology	114034	TOE1	OMIM:614969
HP:0011805	Abnormal skeletal muscle morphology	114034	TOE1	ORPHA:284339
HP:0011805	Abnormal skeletal muscle morphology	64087	MCCC2	OMIM:210210
HP:0011805	Abnormal skeletal muscle morphology	823	CAPN1	OMIM:616907
HP:0011805	Abnormal skeletal muscle morphology	823	CAPN1	ORPHA:488594
HP:0011805	Abnormal skeletal muscle morphology	7274	TTPA	ORPHA:96
HP:0011805	Abnormal skeletal muscle morphology	23400	ATP13A2	ORPHA:513436
HP:0011805	Abnormal skeletal muscle morphology	5442	POLRMT	OMIM:619743
HP:0011805	Abnormal skeletal muscle morphology	55526	DHTKD1	OMIM:615025
HP:0011805	Abnormal skeletal muscle morphology	84342	COG8	ORPHA:95428
HP:0011805	Abnormal skeletal muscle morphology	649	BMP1	OMIM:614856
HP:0011805	Abnormal skeletal muscle morphology	79731	NARS2	OMIM:616239
HP:0011805	Abnormal skeletal muscle morphology	374393	FAM111B	OMIM:615704
HP:0011805	Abnormal skeletal muscle morphology	113278	SLC52A3	OMIM:211530
HP:0011805	Abnormal skeletal muscle morphology	57167	SALL4	ORPHA:233
HP:0011805	Abnormal skeletal muscle morphology	9935	MAFB	ORPHA:233
HP:0011805	Abnormal skeletal muscle morphology	1123	CHN1	ORPHA:233
HP:0011805	Abnormal skeletal muscle morphology	3475	IFRD1	ORPHA:98771
HP:0011805	Abnormal skeletal muscle morphology	92482	BBIP1	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	80184	CEP290	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	11020	IFT27	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	582	BBS1	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	49855	SCAPER	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	4867	NPHP1	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	51057	WDPCP	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	27241	BBS9	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	84984	CEP19	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	54903	MKS1	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	79738	BBS10	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	123016	TTC8	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	26160	IFT172	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	583	BBS2	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	585	BBS4	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	8195	MKKS	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	54585	LZTFL1	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	55212	BBS7	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	166379	BBS12	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	10806	SDCCAG8	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	157657	CFAP418	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	84100	ARL6	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	129880	BBS5	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	80173	IFT74	ORPHA:110
HP:0011805	Abnormal skeletal muscle morphology	55773	TBC1D23	OMIM:617695
HP:0011805	Abnormal skeletal muscle morphology	8363	H4C11	OMIM:619759
HP:0011805	Abnormal skeletal muscle morphology	54902	TTC19	OMIM:615157
HP:0011805	Abnormal skeletal muscle morphology	11340	EXOSC8	ORPHA:2254
HP:0011805	Abnormal skeletal muscle morphology	11340	EXOSC8	OMIM:616081
HP:0011805	Abnormal skeletal muscle morphology	23287	AGTPBP1	ORPHA:2254
HP:0011805	Abnormal skeletal muscle morphology	23287	AGTPBP1	OMIM:618276
HP:0011805	Abnormal skeletal muscle morphology	4191	MDH2	OMIM:617339
HP:0011805	Abnormal skeletal muscle morphology	7486	WRN	ORPHA:902
HP:0011805	Abnormal skeletal muscle morphology	6609	SMPD1	OMIM:257200
HP:0011805	Abnormal skeletal muscle morphology	472	ATM	ORPHA:100
HP:0011805	Abnormal skeletal muscle morphology	10613	ERLIN1	ORPHA:401785
HP:0011805	Abnormal skeletal muscle morphology	10613	ERLIN1	OMIM:615681
HP:0011805	Abnormal skeletal muscle morphology	9896	FIG4	OMIM:612577
HP:0011805	Abnormal skeletal muscle morphology	9896	FIG4	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	23396	PIP5K1C	OMIM:611369
HP:0011805	Abnormal skeletal muscle morphology	9562	MINPP1	OMIM:619527
HP:0011805	Abnormal skeletal muscle morphology	9562	MINPP1	ORPHA:284339
HP:0011805	Abnormal skeletal muscle morphology	2065	ERBB3	OMIM:607598
HP:0011805	Abnormal skeletal muscle morphology	34	ACADM	ORPHA:42
HP:0011805	Abnormal skeletal muscle morphology	5213	PFKM	ORPHA:371
HP:0011805	Abnormal skeletal muscle morphology	84317	CCDC115	OMIM:616828
HP:0011805	Abnormal skeletal muscle morphology	3954	LETM1	OMIM:620089
HP:0011805	Abnormal skeletal muscle morphology	25978	CHMP2B	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	8148	TAF15	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5445	PON2	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5630	PRPH	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5630	PRPH	OMIM:105400
HP:0011805	Abnormal skeletal muscle morphology	29110	TBK1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	29110	TBK1	OMIM:616439
HP:0011805	Abnormal skeletal muscle morphology	55830	GLT8D1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	755	CFAP410	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	10891	PPARGC1A	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	6647	SOD1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	6647	SOD1	OMIM:105400
HP:0011805	Abnormal skeletal muscle morphology	10133	OPTN	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5444	PON1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5446	PON3	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5216	PFN1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	5216	PFN1	OMIM:614808
HP:0011805	Abnormal skeletal muscle morphology	23435	TARDBP	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	23435	TARDBP	OMIM:612069
HP:0011805	Abnormal skeletal muscle morphology	29978	UBQLN2	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	2733	GLE1	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	2733	GLE1	ORPHA:1486
HP:0011805	Abnormal skeletal muscle morphology	2733	GLE1	OMIM:253310
HP:0011805	Abnormal skeletal muscle morphology	2733	GLE1	OMIM:611890
HP:0011805	Abnormal skeletal muscle morphology	2043	EPHA4	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	1610	DAO	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	2066	ERBB4	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	23025	UNC13A	ORPHA:803
HP:0011805	Abnormal skeletal muscle morphology	84295	PHF6	ORPHA:127
HP:0011805	Abnormal skeletal muscle morphology	5837	PYGM	ORPHA:368
HP:0011805	Abnormal skeletal muscle morphology	23479	ISCU	OMIM:255125
HP:0011805	Abnormal skeletal muscle morphology	4509	MT-ATP8	ORPHA:480
HP:0011805	Abnormal skeletal muscle morphology	4567	MT-TL1	ORPHA:480
HP:0011805	Abnormal skeletal muscle morphology	58497	PRUNE1	OMIM:617481
HP:0011805	Abnormal skeletal muscle morphology	3991	LIPE	OMIM:615980
HP:0011805	Abnormal skeletal muscle morphology	5256	PHKA2	ORPHA:264580
HP:0011805	Abnormal skeletal muscle morphology	5261	PHKG2	ORPHA:264580
HP:0011805	Abnormal skeletal muscle morphology	57410	SCYL1	OMIM:616719
HP:0011805	Abnormal skeletal muscle morphology	8803	SUCLA2	ORPHA:1933
HP:0011805	Abnormal skeletal muscle morphology	8803	SUCLA2	OMIM:612073
HP:0011805	Abnormal skeletal muscle morphology	91949	COG7	OMIM:608779
HP:0011805	Abnormal skeletal muscle morphology	126129	CPT1C	OMIM:616282
HP:0011805	Abnormal skeletal muscle morphology	160418	TMTC3	OMIM:617255
HP:0011805	Abnormal skeletal muscle morphology	123606	NIPA1	ORPHA:100988
HP:0011805	Abnormal skeletal muscle morphology	2632	GBE1	OMIM:232500
HP:0011805	Abnormal skeletal muscle morphology	7167	TPI1	OMIM:615512
HP:0011805	Abnormal skeletal muscle morphology	7167	TPI1	ORPHA:868
HP:0011805	Abnormal skeletal muscle morphology	132	ADK	OMIM:614300
HP:0011805	Abnormal skeletal muscle morphology	2778	GNAS	OMIM:219080
HP:0011805	Abnormal skeletal muscle morphology	4720	NDUFS2	OMIM:618228
HP:0011805	Abnormal skeletal muscle morphology	27235	COQ2	OMIM:146500
HP:0011805	Abnormal skeletal muscle morphology	113235	SLC46A1	ORPHA:90045
HP:0011805	Abnormal skeletal muscle morphology	4967	OGDH	ORPHA:31
HP:0011805	Abnormal skeletal muscle morphology	137682	NDUFAF6	OMIM:618239
HP:0011805	Abnormal skeletal muscle morphology	55033	FKBP14	OMIM:614557
HP:0011805	Abnormal skeletal muscle morphology	55033	FKBP14	ORPHA:300179
HP:0011805	Abnormal skeletal muscle morphology	54820	NDE1	OMIM:605013
HP:0011805	Abnormal skeletal muscle morphology	148789	B3GALNT2	ORPHA:899
HP:0011805	Abnormal skeletal muscle morphology	1282	COL4A1	ORPHA:899
HP:0011805	Abnormal skeletal muscle morphology	10329	RXYLT1	ORPHA:899
HP:0011805	Abnormal skeletal muscle morphology	11041	B4GAT1	ORPHA:899
HP:0011805	Abnormal skeletal muscle morphology	101929726	MYMX	ORPHA:1358
HP:0011805	Abnormal skeletal muscle morphology	6904	TBCD	ORPHA:496641
HP:0011805	Abnormal skeletal muscle morphology	6904	TBCD	OMIM:617193
HP:0011805	Abnormal skeletal muscle morphology	5980	REV3L	ORPHA:570
HP:0011805	Abnormal skeletal muscle morphology	23129	PLXND1	ORPHA:570
HP:0011805	Abnormal skeletal muscle morphology	55967	NDUFA12	OMIM:618244
HP:0011805	Abnormal skeletal muscle morphology	10352	WARS2	OMIM:617710
HP:0011805	Abnormal skeletal muscle morphology	10616	RBCK1	OMIM:615895
HP:0011805	Abnormal skeletal muscle morphology	9056	SLC7A7	OMIM:222700
HP:0011805	Abnormal skeletal muscle morphology	8091	HMGA2	ORPHA:94063
HP:0011805	Abnormal skeletal muscle morphology	51300	TIMMDC1	OMIM:618251
HP:0011805	Abnormal skeletal muscle morphology	4714	NDUFB8	OMIM:618252
HP:0011805	Abnormal skeletal muscle morphology	9101	USP8	OMIM:219090
HP:0011805	Abnormal skeletal muscle morphology	51763	INPP5K	ORPHA:559
HP:0011805	Abnormal skeletal muscle morphology	28982	FLVCR1	OMIM:609033
HP:0011805	Abnormal skeletal muscle morphology	6197	RPS6KA3	ORPHA:192
HP:0011805	Abnormal skeletal muscle morphology	203228	C9orf72	OMIM:105550
HP:0011805	Abnormal skeletal muscle morphology	4927	NUP88	OMIM:618393
HP:0011805	Abnormal skeletal muscle morphology	953	ENTPD1	OMIM:615683
HP:0011805	Abnormal skeletal muscle morphology	5296	PIK3R2	OMIM:603387
HP:0011805	Abnormal skeletal muscle morphology	1493	CTLA4	ORPHA:3162
HP:0011805	Abnormal skeletal muscle morphology	940	CD28	ORPHA:3162
HP:0011805	Abnormal skeletal muscle morphology	7133	TNFRSF1B	ORPHA:3162
HP:0011805	Abnormal skeletal muscle morphology	119559	SFXN4	OMIM:615578
HP:0011805	Abnormal skeletal muscle morphology	4724	NDUFS4	OMIM:252010
HP:0011805	Abnormal skeletal muscle morphology	5430	POLR2A	OMIM:618603
HP:0011805	Abnormal skeletal muscle morphology	4683	NBN	ORPHA:647
HP:0011805	Abnormal skeletal muscle morphology	16	AARS1	OMIM:613287
HP:0011805	Abnormal skeletal muscle morphology	90523	MLIP	OMIM:620138
HP:0011805	Abnormal skeletal muscle morphology	50846	DHH	ORPHA:168563
HP:0011805	Abnormal skeletal muscle morphology	9894	TELO2	ORPHA:488642
HP:0011805	Abnormal skeletal muscle morphology	84992	PIGY	OMIM:616809
HP:0011805	Abnormal skeletal muscle morphology	23522	KAT6B	ORPHA:85201
HP:0011805	Abnormal skeletal muscle morphology	23522	KAT6B	OMIM:606170
HP:0011805	Abnormal skeletal muscle morphology	5745	PTH1R	OMIM:156400
HP:0011805	Abnormal skeletal muscle morphology	84068	SLC10A7	OMIM:618363
HP:0011805	Abnormal skeletal muscle morphology	54681	P4HTM	OMIM:618493
HP:0011805	Abnormal skeletal muscle morphology	79147	FKRP	ORPHA:370968
HP:0011805	Abnormal skeletal muscle morphology	9215	LARGE1	ORPHA:370968
HP:0011805	Abnormal skeletal muscle morphology	10585	POMT1	ORPHA:370968
HP:0011805	Abnormal skeletal muscle morphology	10585	POMT1	OMIM:609308
HP:0011805	Abnormal skeletal muscle morphology	10585	POMT1	ORPHA:86812
HP:0011805	Abnormal skeletal muscle morphology	1410	CRYAB	OMIM:608810
HP:0011805	Abnormal skeletal muscle morphology	1410	CRYAB	ORPHA:399058
HP:0011805	Abnormal skeletal muscle morphology	1716	DGUOK	ORPHA:329314
HP:0011805	Abnormal skeletal muscle morphology	5257	PHKB	ORPHA:79240
HP:0011805	Abnormal skeletal muscle morphology	1605	DAG1	OMIM:613818
HP:0011805	Abnormal skeletal muscle morphology	5339	PLEC	ORPHA:254361
HP:0011805	Abnormal skeletal muscle morphology	112812	FDX2	OMIM:251900
HP:0011805	Abnormal skeletal muscle morphology	84197	POMK	OMIM:616094
HP:0011805	Abnormal skeletal muscle morphology	56203	LMOD3	ORPHA:171436
HP:0011805	Abnormal skeletal muscle morphology	1763	DNA2	ORPHA:352470
HP:0011805	Abnormal skeletal muscle morphology	11155	LDB3	ORPHA:98912
HP:0011805	Abnormal skeletal muscle morphology	1311	COMP	OMIM:619161
HP:0011805	Abnormal skeletal muscle morphology	8985	PLOD3	OMIM:612394
HP:0011805	Abnormal skeletal muscle morphology	8884	SLC5A6	OMIM:619903
HP:0011805	Abnormal skeletal muscle morphology	5165	PDK3	ORPHA:352675
HP:0011805	Abnormal skeletal muscle morphology	3710	ITPR3	OMIM:620111
HP:0011805	Abnormal skeletal muscle morphology	353116	RILPL1	OMIM:619790
HP:0011805	Abnormal skeletal muscle morphology	64419	MTMR14	ORPHA:169189
HP:0011805	Abnormal skeletal muscle morphology	64419	MTMR14	OMIM:160150
HP:0011805	Abnormal skeletal muscle morphology	4618	MYF6	ORPHA:169189
HP:0011805	Abnormal skeletal muscle morphology	6840	SVIL	OMIM:619040
HP:0011805	Abnormal skeletal muscle morphology	3714	JAG2	OMIM:619566
HP:0011805	Abnormal skeletal muscle morphology	84466	MEGF10	OMIM:614399
HP:0011805	Abnormal skeletal muscle morphology	2260	FGFR1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	28514	DLL1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	2253	FGF8	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	6496	SIX3	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	7050	TGIF1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	4838	NODAL	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	6469	SHH	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	7546	ZIC2	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	2619	GAS1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	84976	DISP1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	2736	GLI2	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	8928	FOXH1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	5727	PTCH1	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	50937	CDON	ORPHA:280200
HP:0011805	Abnormal skeletal muscle morphology	146862	UNC45B	OMIM:619178
HP:0011805	Abnormal skeletal muscle morphology	22954	TRIM32	OMIM:254110
HP:0011805	Abnormal skeletal muscle morphology	128989	TANGO2	ORPHA:480864
HP:0011805	Abnormal skeletal muscle morphology	2218	FKTN	ORPHA:370980
HP:0011805	Abnormal skeletal muscle morphology	28976	ACAD9	ORPHA:99901
HP:0011805	Abnormal skeletal muscle morphology	10755	GIPC1	OMIM:618940
HP:0011805	Abnormal skeletal muscle morphology	8087	FXR1	OMIM:618822
HP:0011805	Abnormal skeletal muscle morphology	259232	NALCN	ORPHA:371364
HP:0011805	Abnormal skeletal muscle morphology	285175	UNC80	ORPHA:371364
HP:0011805	Abnormal skeletal muscle morphology	55958	KLHL9	ORPHA:399081
HP:0011805	Abnormal skeletal muscle morphology	1674	DES	OMIM:601419
HP:0011805	Abnormal skeletal muscle morphology	51128	SAR1B	ORPHA:71
HP:0011805	Abnormal skeletal muscle morphology	3178	HNRNPA1	ORPHA:52430
HP:0011805	Abnormal skeletal muscle morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0011805	Abnormal skeletal muscle morphology	51099	ABHD5	ORPHA:98907
HP:0011805	Abnormal skeletal muscle morphology	844	CASQ1	ORPHA:2593
HP:0011805	Abnormal skeletal muscle morphology	84876	ORAI1	ORPHA:2593
HP:0011805	Abnormal skeletal muscle morphology	6786	STIM1	ORPHA:2593
HP:0011805	Abnormal skeletal muscle morphology	7138	TNNT1	ORPHA:98902
HP:0011805	Abnormal skeletal muscle morphology	226	ALDOA	ORPHA:57
HP:0011805	Abnormal skeletal muscle morphology	8449	DHX16	OMIM:618733
HP:0011805	Abnormal skeletal muscle morphology	400916	CHCHD10	ORPHA:276435
HP:0011805	Abnormal skeletal muscle morphology	6445	SGCG	ORPHA:353
HP:0011805	Abnormal skeletal muscle morphology	1134	CHRNA1	OMIM:601462
HP:0011805	Abnormal skeletal muscle morphology	1134	CHRNA1	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	4000	LMNA	OMIM:605588
HP:0011805	Abnormal skeletal muscle morphology	4000	LMNA	OMIM:613205
HP:0011805	Abnormal skeletal muscle morphology	91574	MTRFR	ORPHA:254930
HP:0011805	Abnormal skeletal muscle morphology	91574	MTRFR	ORPHA:320375
HP:0011805	Abnormal skeletal muscle morphology	1789	DNMT3B	OMIM:619478
HP:0011805	Abnormal skeletal muscle morphology	4625	MYH7	ORPHA:437572
HP:0011805	Abnormal skeletal muscle morphology	9420	CYP7B1	ORPHA:100986
HP:0011805	Abnormal skeletal muscle morphology	9420	CYP7B1	OMIM:270800
HP:0011805	Abnormal skeletal muscle morphology	4744	NEFH	OMIM:616924
HP:0011805	Abnormal skeletal muscle morphology	4747	NEFL	ORPHA:99939
HP:0011805	Abnormal skeletal muscle morphology	2617	GARS1	ORPHA:139536
HP:0011805	Abnormal skeletal muscle morphology	2617	GARS1	OMIM:600794
HP:0011805	Abnormal skeletal muscle morphology	2617	GARS1	OMIM:601472
HP:0011805	Abnormal skeletal muscle morphology	26580	BSCL2	ORPHA:139536
HP:0011805	Abnormal skeletal muscle morphology	65055	REEP1	ORPHA:139536
HP:0011805	Abnormal skeletal muscle morphology	8314	BAP1	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	4771	NF2	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	6598	SMARCB1	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	5155	PDGFB	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	84231	TRAF7	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	6608	SMO	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	207	AKT1	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	5290	PIK3CA	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	7015	TERT	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	51684	SUFU	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	6605	SMARCE1	ORPHA:2495
HP:0011805	Abnormal skeletal muscle morphology	6687	SPG7	ORPHA:99013
HP:0011805	Abnormal skeletal muscle morphology	6687	SPG7	OMIM:607259
HP:0011805	Abnormal skeletal muscle morphology	1959	EGR2	OMIM:607678
HP:0011805	Abnormal skeletal muscle morphology	1959	EGR2	OMIM:605253
HP:0011805	Abnormal skeletal muscle morphology	4359	MPZ	OMIM:607677
HP:0011805	Abnormal skeletal muscle morphology	4359	MPZ	OMIM:607791
HP:0011805	Abnormal skeletal muscle morphology	2581	GALC	ORPHA:206443
HP:0011805	Abnormal skeletal muscle morphology	2581	GALC	ORPHA:206448
HP:0011805	Abnormal skeletal muscle morphology	6305	SBF1	OMIM:615284
HP:0011805	Abnormal skeletal muscle morphology	3074	HEXB	ORPHA:309169
HP:0011805	Abnormal skeletal muscle morphology	8566	PDXK	OMIM:618511
HP:0011805	Abnormal skeletal muscle morphology	63895	PIEZO2	OMIM:617146
HP:0011805	Abnormal skeletal muscle morphology	22880	MORC2	ORPHA:466768
HP:0011805	Abnormal skeletal muscle morphology	10342	TFG	ORPHA:90117
HP:0011805	Abnormal skeletal muscle morphology	8565	YARS1	OMIM:608323
HP:0011805	Abnormal skeletal muscle morphology	6329	SCN4A	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	4038	LRP4	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	1305	COL13A1	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	1140	CHRNB1	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	1144	CHRND	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	1145	CHRNE	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	4593	MUSK	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	5913	RAPSN	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	375790	AGRN	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	221264	AK9	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	285489	DOK7	ORPHA:98913
HP:0011805	Abnormal skeletal muscle morphology	5456	POU3F4	ORPHA:1435
HP:0011805	Abnormal skeletal muscle morphology	7428	VHL	ORPHA:892
HP:0011805	Abnormal skeletal muscle morphology	595	CCND1	ORPHA:892
HP:0011805	Abnormal skeletal muscle morphology	4508	MT-ATP6	ORPHA:225154
HP:0011805	Abnormal skeletal muscle morphology	23636	NUP62	ORPHA:225154
HP:0011805	Abnormal skeletal muscle morphology	103	ADAR	ORPHA:225154
HP:0011805	Abnormal skeletal muscle morphology	55681	SCYL2	ORPHA:1143
HP:0011805	Abnormal skeletal muscle morphology	84570	COL25A1	ORPHA:1143
HP:0011805	Abnormal skeletal muscle morphology	57222	ERGIC1	ORPHA:1143
HP:0011805	Abnormal skeletal muscle morphology	79628	SH3TC2	OMIM:601596
HP:0011805	Abnormal skeletal muscle morphology	23111	SPART	ORPHA:101000
HP:0011805	Abnormal skeletal muscle morphology	2992	GYG1	ORPHA:263297
HP:0011805	Abnormal skeletal muscle morphology	23503	ZFYVE26	ORPHA:100996
HP:0011805	Abnormal skeletal muscle morphology	10667	FARS2	OMIM:617046
HP:0011805	Abnormal skeletal muscle morphology	3508	IGHMBP2	OMIM:616155
HP:0011805	Abnormal skeletal muscle morphology	80199	FUZ	ORPHA:1136
HP:0011805	Abnormal skeletal muscle morphology	2583	B4GALNT1	OMIM:609195
HP:0011805	Abnormal skeletal muscle morphology	3798	KIF5A	OMIM:604187
HP:0011805	Abnormal skeletal muscle morphology	121512	FGD4	OMIM:609311
HP:0011805	Abnormal skeletal muscle morphology	54332	GDAP1	OMIM:608340
HP:0011805	Abnormal skeletal muscle morphology	9782	MATR3	OMIM:606070
HP:0011805	Abnormal skeletal muscle morphology	9782	MATR3	ORPHA:600
HP:0011805	Abnormal skeletal muscle morphology	57104	PNPLA2	ORPHA:98908
HP:0011805	Abnormal skeletal muscle morphology	5660	PSAP	ORPHA:206436
HP:0011805	Abnormal skeletal muscle morphology	9987	HNRNPDL	OMIM:609115
HP:0011805	Abnormal skeletal muscle morphology	87178	PNPT1	ORPHA:319514
HP:0011805	Abnormal skeletal muscle morphology	7555	CNBP	OMIM:602668
HP:0011805	Abnormal skeletal muscle morphology	23175	LPIN1	ORPHA:99845
HP:0011805	Abnormal skeletal muscle morphology	4512	MT-CO1	ORPHA:99845
HP:0011805	Abnormal skeletal muscle morphology	4514	MT-CO3	ORPHA:99845
HP:0011805	Abnormal skeletal muscle morphology	54938	SARS2	OMIM:613845
HP:0011805	Abnormal skeletal muscle morphology	7148	TNXB	OMIM:606408
HP:0011805	Abnormal skeletal muscle morphology	51776	MAP3K20	OMIM:617760
HP:0011805	Abnormal skeletal muscle morphology	2318	FLNC	OMIM:609524
HP:0011805	Abnormal skeletal muscle morphology	57128	LYRM4	OMIM:615595
HP:0011805	Abnormal skeletal muscle morphology	10730	YME1L1	OMIM:617302
HP:0011805	Abnormal skeletal muscle morphology	1185	CLCN6	OMIM:619173
HP:0011805	Abnormal skeletal muscle morphology	8604	SLC25A12	OMIM:612949
HP:0011805	Abnormal skeletal muscle morphology	4697	NDUFA4	OMIM:619065
HP:0011805	Abnormal skeletal muscle morphology	9997	SCO2	OMIM:604377
HP:0011805	Abnormal skeletal muscle morphology	4285	MIPEP	OMIM:617228
HP:0011805	Abnormal skeletal muscle morphology	51244	CCDC174	OMIM:616816
HP:0011805	Abnormal skeletal muscle morphology	64208	POPDC3	OMIM:618848
HP:0011805	Abnormal skeletal muscle morphology	1487	CTBP1	OMIM:617915
HP:0011805	Abnormal skeletal muscle morphology	57505	AARS2	OMIM:614096
HP:0011805	Abnormal skeletal muscle morphology	283989	TSEN54	ORPHA:2524
HP:0011805	Abnormal skeletal muscle morphology	116461	TSEN15	ORPHA:2524
HP:0011805	Abnormal skeletal muscle morphology	79042	TSEN34	ORPHA:2524
HP:0011805	Abnormal skeletal muscle morphology	80746	TSEN2	ORPHA:2524
HP:0011805	Abnormal skeletal muscle morphology	1120	CHKB	OMIM:602541
HP:0011805	Abnormal skeletal muscle morphology	190	NR0B1	OMIM:300200
HP:0011805	Abnormal skeletal muscle morphology	2710	GK	OMIM:307030
HP:0011805	Abnormal skeletal muscle morphology	8813	DPM1	OMIM:608799
HP:0011805	Abnormal skeletal muscle morphology	8813	DPM1	ORPHA:79322
HP:0011805	Abnormal skeletal muscle morphology	191	AHCY	ORPHA:88618
HP:0011805	Abnormal skeletal muscle morphology	60684	TRAPPC11	ORPHA:369840
HP:0011805	Abnormal skeletal muscle morphology	9184	BUB3	ORPHA:1052
HP:0011805	Abnormal skeletal muscle morphology	699	BUB1	ORPHA:1052
HP:0011805	Abnormal skeletal muscle morphology	9702	CEP57	ORPHA:1052
HP:0011805	Abnormal skeletal muscle morphology	9319	TRIP13	ORPHA:1052
HP:0011805	Abnormal skeletal muscle morphology	701	BUB1B	ORPHA:1052
HP:0011805	Abnormal skeletal muscle morphology	8557	TCAP	OMIM:601954
HP:0011805	Abnormal skeletal muscle morphology	9453	GGPS1	OMIM:619518
HP:0011805	Abnormal skeletal muscle morphology	54344	DPM3	OMIM:618992
HP:0011805	Abnormal skeletal muscle morphology	26092	TOR1AIP1	OMIM:617072
HP:0011805	Abnormal skeletal muscle morphology	182	JAG1	OMIM:619574
HP:0011805	Abnormal skeletal muscle morphology	124093	CCDC78	OMIM:614807
HP:0011805	Abnormal skeletal muscle morphology	10367	MICU1	ORPHA:401768
HP:0011805	Abnormal skeletal muscle morphology	291	SLC25A4	ORPHA:254892
HP:0011805	Abnormal skeletal muscle morphology	11232	POLG2	ORPHA:254892
HP:0011805	Abnormal skeletal muscle morphology	11232	POLG2	OMIM:610131
HP:0011805	Abnormal skeletal muscle morphology	50484	RRM2B	ORPHA:254892
HP:0011805	Abnormal skeletal muscle morphology	50484	RRM2B	ORPHA:329336
HP:0011805	Abnormal skeletal muscle morphology	246243	RNASEH1	ORPHA:329336
HP:0011805	Abnormal skeletal muscle morphology	2548	GAA	OMIM:232300
HP:0011805	Abnormal skeletal muscle morphology	1778	DYNC1H1	OMIM:614228
HP:0011805	Abnormal skeletal muscle morphology	79581	SLC52A2	OMIM:614707
HP:0011805	Abnormal skeletal muscle morphology	2670	GFAP	ORPHA:363722
HP:0011805	Abnormal skeletal muscle morphology	5191	PEX7	OMIM:266500
HP:0011805	Abnormal skeletal muscle morphology	5264	PHYH	OMIM:266500
HP:0011805	Abnormal skeletal muscle morphology	11149	BVES	OMIM:616812
HP:0011805	Abnormal skeletal muscle morphology	540	ATP7B	OMIM:277900
HP:0011805	Abnormal skeletal muscle morphology	270	AMPD1	ORPHA:45
HP:0011805	Abnormal skeletal muscle morphology	272	AMPD3	ORPHA:45
HP:0011805	Abnormal skeletal muscle morphology	51	ACOX1	OMIM:618960
HP:0011805	Abnormal skeletal muscle morphology	210	ALAD	ORPHA:100924
HP:0011805	Abnormal skeletal muscle morphology	3920	LAMP2	OMIM:300257
HP:0011805	Abnormal skeletal muscle morphology	966	CD59	OMIM:612300
HP:0011805	Abnormal skeletal muscle morphology	1073	CFL2	OMIM:610687
HP:0011805	Abnormal skeletal muscle morphology	686	BTD	ORPHA:79241
HP:0011805	Abnormal skeletal muscle morphology	5351	PLOD1	ORPHA:1900
HP:0011805	Abnormal skeletal muscle morphology	899	CCNF	OMIM:619141
HP:0011805	Abnormal skeletal muscle morphology	4507	MTAP	OMIM:112250
HP:0011805	Abnormal skeletal muscle morphology	367	AR	OMIM:313200
HP:0011805	Abnormal skeletal muscle morphology	9325	TRIP4	ORPHA:486815
HP:0011805	Abnormal skeletal muscle morphology	9990	SLC12A6	OMIM:218000
HP:0011805	Abnormal skeletal muscle morphology	54808	DYM	ORPHA:239
HP:0011805	Abnormal skeletal muscle morphology	274	BIN1	ORPHA:169186
HP:0011805	Abnormal skeletal muscle morphology	274	BIN1	OMIM:255200
HP:0011805	Abnormal skeletal muscle morphology	10290	SPEG	ORPHA:169186
HP:0011805	Abnormal skeletal muscle morphology	6261	RYR1	ORPHA:169186
HP:0011805	Abnormal skeletal muscle morphology	6261	RYR1	ORPHA:424107
HP:0011805	Abnormal skeletal muscle morphology	7273	TTN	ORPHA:169186
HP:0011805	Abnormal skeletal muscle morphology	7273	TTN	OMIM:603689
HP:0011805	Abnormal skeletal muscle morphology	79912	PYROXD1	OMIM:617258
HP:0011805	Abnormal skeletal muscle morphology	9820	CUL7	ORPHA:2616
HP:0011805	Abnormal skeletal muscle morphology	9820	CUL7	OMIM:273750
HP:0011805	Abnormal skeletal muscle morphology	23363	OBSL1	ORPHA:2616
HP:0011805	Abnormal skeletal muscle morphology	23363	OBSL1	OMIM:612921
HP:0011805	Abnormal skeletal muscle morphology	83987	CCDC8	ORPHA:2616
HP:0011805	Abnormal skeletal muscle morphology	825	CAPN3	OMIM:253600
HP:0011805	Abnormal skeletal muscle morphology	825	CAPN3	ORPHA:267
HP:0011805	Abnormal skeletal muscle morphology	825	CAPN3	OMIM:618129
HP:0011805	Abnormal skeletal muscle morphology	6442	SGCA	OMIM:608099
HP:0011805	Abnormal skeletal muscle morphology	6442	SGCA	ORPHA:62
HP:0011805	Abnormal skeletal muscle morphology	7084	TK2	ORPHA:254886
HP:0011805	Abnormal skeletal muscle morphology	7084	TK2	OMIM:617069
HP:0011805	Abnormal skeletal muscle morphology	729920	CRPPA	OMIM:616052
HP:0011805	Abnormal skeletal muscle morphology	729920	CRPPA	ORPHA:352479
HP:0011805	Abnormal skeletal muscle morphology	55790	CSGALNACT1	OMIM:618870
HP:0011805	Abnormal skeletal muscle morphology	58	ACTA1	OMIM:616852
HP:0011805	Abnormal skeletal muscle morphology	58	ACTA1	ORPHA:171439
HP:0011805	Abnormal skeletal muscle morphology	6443	SGCB	OMIM:604286
HP:0011805	Abnormal skeletal muscle morphology	25778	DSTYK	OMIM:270750
HP:0011805	Abnormal skeletal muscle morphology	29925	GMPPB	ORPHA:353327
HP:0011805	Abnormal skeletal muscle morphology	2673	GFPT1	ORPHA:353327
HP:0011805	Abnormal skeletal muscle morphology	1798	DPAGT1	ORPHA:353327
HP:0011805	Abnormal skeletal muscle morphology	85365	ALG2	ORPHA:353327
HP:0011805	Abnormal skeletal muscle morphology	85365	ALG2	OMIM:616228
HP:0011805	Abnormal skeletal muscle morphology	199857	ALG14	ORPHA:353327
HP:0011805	Abnormal skeletal muscle morphology	10059	DNM1L	ORPHA:98673
HP:0011805	Abnormal skeletal muscle morphology	4976	OPA1	ORPHA:98673
HP:0011805	Abnormal skeletal muscle morphology	6444	SGCD	OMIM:601287
HP:0011805	Abnormal skeletal muscle morphology	6444	SGCD	ORPHA:219
HP:0011805	Abnormal skeletal muscle morphology	2273	FHL1	OMIM:300696
HP:0011805	Abnormal skeletal muscle morphology	2273	FHL1	OMIM:300695
HP:0011805	Abnormal skeletal muscle morphology	2273	FHL1	ORPHA:98863
HP:0011805	Abnormal skeletal muscle morphology	2316	FLNA	OMIM:305620
HP:0011805	Abnormal skeletal muscle morphology	2483	FRG1	OMIM:158900
HP:0011805	Abnormal skeletal muscle morphology	23347	SMCHD1	OMIM:158901
HP:0011805	Abnormal skeletal muscle morphology	55870	ASH1L	OMIM:617796
HP:0011805	Abnormal skeletal muscle morphology	8878	SQSTM1	OMIM:617158
HP:0011805	Abnormal skeletal muscle morphology	64856	VWA1	OMIM:619216
HP:0011805	Abnormal skeletal muscle morphology	311	ANXA11	OMIM:619733
HP:0011805	Abnormal skeletal muscle morphology	4604	MYBPC1	OMIM:618524
HP:0011805	Abnormal skeletal muscle morphology	2138	EYA1	ORPHA:2792
HP:0011805	Abnormal skeletal muscle morphology	2138	EYA1	OMIM:166780
HP:0011805	Abnormal skeletal muscle morphology	5075	PAX1	ORPHA:2792
HP:0011805	Abnormal skeletal muscle morphology	5075	PAX1	OMIM:615560
HP:0011805	Abnormal skeletal muscle morphology	3759	KCNJ2	OMIM:170390
HP:0011805	Abnormal skeletal muscle morphology	5077	PAX3	OMIM:148820
HP:0011805	Abnormal skeletal muscle morphology	4620	MYH2	OMIM:605637
HP:0011805	Abnormal skeletal muscle morphology	80324	PUS1	OMIM:600462
HP:0011805	Abnormal skeletal muscle morphology	23545	ATP6V0A2	OMIM:278250
HP:0011805	Abnormal skeletal muscle morphology	200734	SPRED2	OMIM:619745
HP:0011805	Abnormal skeletal muscle morphology	9531	BAG3	OMIM:612954
HP:0011805	Abnormal skeletal muscle morphology	2200	FBN1	OMIM:616914
HP:0011805	Abnormal skeletal muscle morphology	55791	LRIF1	OMIM:619477
HP:0011805	Abnormal skeletal muscle morphology	5781	PTPN11	ORPHA:500
HP:0011805	Abnormal skeletal muscle morphology	5781	PTPN11	OMIM:151100
HP:0011805	Abnormal skeletal muscle morphology	673	BRAF	ORPHA:500
HP:0011805	Abnormal skeletal muscle morphology	5894	RAF1	ORPHA:500
HP:0011805	Abnormal skeletal muscle morphology	7204	TRIO	OMIM:617061
HP:0011805	Abnormal skeletal muscle morphology	10220	GDF11	OMIM:619122
HP:0011805	Abnormal skeletal muscle morphology	163175	LGI4	OMIM:617468
HP:0011805	Abnormal skeletal muscle morphology	8292	COLQ	ORPHA:98915
HP:0011805	Abnormal skeletal muscle morphology	3913	LAMB2	ORPHA:98915
HP:0011805	Abnormal skeletal muscle morphology	23299	BICD2	OMIM:615290
HP:0011805	Abnormal skeletal muscle morphology	11117	EMILIN1	OMIM:620080
HP:0011805	Abnormal skeletal muscle morphology	56983	POGLUT1	OMIM:617232
HP:0011805	Abnormal skeletal muscle morphology	57479	PRR12	OMIM:619539
HP:0011805	Abnormal skeletal muscle morphology	390594	KBTBD13	ORPHA:171439
HP:0011805	Abnormal skeletal muscle morphology	4703	NEB	ORPHA:171439
HP:0011805	Abnormal skeletal muscle morphology	10324	KLHL41	ORPHA:171439
HP:0011805	Abnormal skeletal muscle morphology	2317	FLNB	OMIM:272460
HP:0011805	Abnormal skeletal muscle morphology	2010	EMD	ORPHA:98863
HP:0011805	Abnormal skeletal muscle morphology	23676	SMPX	OMIM:301075
HP:0011805	Abnormal skeletal muscle morphology	7043	TGFB3	OMIM:615582
HP:0011805	Abnormal skeletal muscle morphology	10801	SEPTIN9	ORPHA:2901
HP:0011805	Abnormal skeletal muscle morphology	7227	TRPS1	OMIM:190350
HP:0011805	Abnormal skeletal muscle morphology	23224	SYNE2	OMIM:612999
HP:0011805	Abnormal skeletal muscle morphology	23224	SYNE2	ORPHA:98853
HP:0011805	Abnormal skeletal muscle morphology	23534	TNPO3	OMIM:608423
HP:0011805	Abnormal skeletal muscle morphology	79188	TMEM43	ORPHA:98853
HP:0011805	Abnormal skeletal muscle morphology	23345	SYNE1	ORPHA:98853
HP:0011805	Abnormal skeletal muscle morphology	23064	SETX	OMIM:602433
HP:0011805	Abnormal skeletal muscle morphology	23064	SETX	OMIM:606002
HP:0011805	Abnormal skeletal muscle morphology	10749	KIF1C	ORPHA:397946
HP:0011805	Abnormal skeletal muscle morphology	10749	KIF1C	OMIM:611302
HP:0011805	Abnormal skeletal muscle morphology	7072	TIA1	OMIM:604454
HP:0011805	Abnormal skeletal muscle morphology	4141	MARS1	OMIM:616280
HP:0011805	Abnormal skeletal muscle morphology	10020	GNE	OMIM:605820
HP:0011805	Abnormal skeletal muscle morphology	23769	FLRT1	ORPHA:320406
HP:0011805	Abnormal skeletal muscle morphology	64837	KLC2	ORPHA:320406
HP:0011805	Abnormal skeletal muscle morphology	64837	KLC2	OMIM:609541
HP:0011805	Abnormal skeletal muscle morphology	4287	ATXN3	OMIM:109150
HP:0011805	Abnormal skeletal muscle morphology	5376	PMP22	OMIM:118300
HP:0011805	Abnormal skeletal muscle morphology	5376	PMP22	OMIM:180800
HP:0011805	Abnormal skeletal muscle morphology	5376	PMP22	ORPHA:3115
HP:0011805	Abnormal skeletal muscle morphology	5376	PMP22	OMIM:118220
HP:0011805	Abnormal skeletal muscle morphology	5376	PMP22	OMIM:145900
HP:0011805	Abnormal skeletal muscle morphology	127833	SYT2	OMIM:616040
HP:0011805	Abnormal skeletal muscle morphology	127833	SYT2	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	6683	SPAST	ORPHA:100985
HP:0011805	Abnormal skeletal muscle morphology	112	ADCY6	OMIM:616287
HP:0011805	Abnormal skeletal muscle morphology	4311	MME	OMIM:617018
HP:0011805	Abnormal skeletal muscle morphology	4311	MME	ORPHA:497764
HP:0011805	Abnormal skeletal muscle morphology	8291	DYSF	OMIM:254130
HP:0011805	Abnormal skeletal muscle morphology	50717	DCAF8	OMIM:610100
HP:0011805	Abnormal skeletal muscle morphology	57704	GBA2	ORPHA:352641
HP:0011805	Abnormal skeletal muscle morphology	19	ABCA1	OMIM:205400
HP:0011805	Abnormal skeletal muscle morphology	7415	VCP	OMIM:167320
HP:0011805	Abnormal skeletal muscle morphology	7415	VCP	ORPHA:435387
HP:0011805	Abnormal skeletal muscle morphology	55775	TDP1	ORPHA:94124
HP:0011805	Abnormal skeletal muscle morphology	55775	TDP1	OMIM:607250
HP:0011805	Abnormal skeletal muscle morphology	10516	FBLN5	OMIM:608895
HP:0011805	Abnormal skeletal muscle morphology	7879	RAB7A	OMIM:600882
HP:0011805	Abnormal skeletal muscle morphology	200205	IBA57	ORPHA:468661
HP:0011805	Abnormal skeletal muscle morphology	10743	RAI1	ORPHA:477817
HP:0011805	Abnormal skeletal muscle morphology	56704	JPH1	OMIM:607831
HP:0011805	Abnormal skeletal muscle morphology	10397	NDRG1	OMIM:601455
HP:0011805	Abnormal skeletal muscle morphology	55187	VPS13D	OMIM:607317
HP:0011805	Abnormal skeletal muscle morphology	538	ATP7A	OMIM:300489
HP:0011805	Abnormal skeletal muscle morphology	6311	ATXN2	OMIM:183090
HP:0011805	Abnormal skeletal muscle morphology	6905	TBCE	ORPHA:496756
HP:0011805	Abnormal skeletal muscle morphology	6905	TBCE	OMIM:617207
HP:0011805	Abnormal skeletal muscle morphology	80347	COASY	OMIM:615643
HP:0011805	Abnormal skeletal muscle morphology	90678	LRSAM1	OMIM:614436
HP:0011805	Abnormal skeletal muscle morphology	10908	PNPLA6	OMIM:275400
HP:0011805	Abnormal skeletal muscle morphology	10908	PNPLA6	OMIM:612020
HP:0011805	Abnormal skeletal muscle morphology	10908	PNPLA6	OMIM:215470
HP:0011805	Abnormal skeletal muscle morphology	81846	SBF2	OMIM:604563
HP:0011805	Abnormal skeletal muscle morphology	60482	SLC5A7	OMIM:158580
HP:0011805	Abnormal skeletal muscle morphology	60482	SLC5A7	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	547	KIF1A	ORPHA:101010
HP:0011805	Abnormal skeletal muscle morphology	4358	MPV17	OMIM:618400
HP:0011805	Abnormal skeletal muscle morphology	122622	ADSS1	OMIM:617030
HP:0011805	Abnormal skeletal muscle morphology	4704	NDUFA9	OMIM:618247
HP:0011805	Abnormal skeletal muscle morphology	55154	MSTO1	OMIM:617675
HP:0011805	Abnormal skeletal muscle morphology	55906	ZC4H2	OMIM:314580
HP:0011805	Abnormal skeletal muscle morphology	55906	ZC4H2	ORPHA:3454
HP:0011805	Abnormal skeletal muscle morphology	5631	PRPS1	OMIM:311070
HP:0011805	Abnormal skeletal muscle morphology	91137	SLC25A46	OMIM:616505
HP:0011805	Abnormal skeletal muscle morphology	3035	HARS1	OMIM:616625
HP:0011805	Abnormal skeletal muscle morphology	29967	LRP12	OMIM:164310
HP:0011805	Abnormal skeletal muscle morphology	4361	MRE11	OMIM:604391
HP:0011805	Abnormal skeletal muscle morphology	80208	SPG11	OMIM:602099
HP:0011805	Abnormal skeletal muscle morphology	80208	SPG11	ORPHA:2822
HP:0011805	Abnormal skeletal muscle morphology	80208	SPG11	ORPHA:300605
HP:0011805	Abnormal skeletal muscle morphology	9499	MYOT	OMIM:609200
HP:0011805	Abnormal skeletal muscle morphology	9499	MYOT	ORPHA:98911
HP:0011805	Abnormal skeletal muscle morphology	10939	AFG3L2	ORPHA:313772
HP:0011805	Abnormal skeletal muscle morphology	10939	AFG3L2	OMIM:614487
HP:0011805	Abnormal skeletal muscle morphology	9217	VAPB	OMIM:608627
HP:0011805	Abnormal skeletal muscle morphology	9217	VAPB	OMIM:182980
HP:0011805	Abnormal skeletal muscle morphology	26278	SACS	ORPHA:98
HP:0011805	Abnormal skeletal muscle morphology	26278	SACS	OMIM:270550
HP:0011805	Abnormal skeletal muscle morphology	51651	PTRH2	ORPHA:456312
HP:0011805	Abnormal skeletal muscle morphology	84892	POMGNT2	OMIM:618135
HP:0011805	Abnormal skeletal muscle morphology	83636	C19orf12	OMIM:614298
HP:0011805	Abnormal skeletal muscle morphology	83636	C19orf12	OMIM:615043
HP:0011805	Abnormal skeletal muscle morphology	26090	ABHD12	OMIM:612674
HP:0011805	Abnormal skeletal muscle morphology	23230	VPS13A	ORPHA:2388
HP:0011805	Abnormal skeletal muscle morphology	88	ACTN2	OMIM:618655
HP:0011805	Abnormal skeletal muscle morphology	54840	APTX	OMIM:208920
HP:0011805	Abnormal skeletal muscle morphology	89874	SLC25A21	OMIM:618811
HP:0011805	Abnormal skeletal muscle morphology	9927	MFN2	OMIM:601152
HP:0011805	Abnormal skeletal muscle morphology	9927	MFN2	OMIM:609260
HP:0011805	Abnormal skeletal muscle morphology	10558	SPTLC1	ORPHA:36386
HP:0011805	Abnormal skeletal muscle morphology	10558	SPTLC1	ORPHA:300605
HP:0011805	Abnormal skeletal muscle morphology	25923	ATL3	ORPHA:36386
HP:0011805	Abnormal skeletal muscle morphology	9517	SPTLC2	ORPHA:36386
HP:0011805	Abnormal skeletal muscle morphology	51062	ATL1	ORPHA:36386
HP:0011805	Abnormal skeletal muscle morphology	11284	PNKP	OMIM:605589
HP:0011805	Abnormal skeletal muscle morphology	81857	MED25	OMIM:605589
HP:0011805	Abnormal skeletal muscle morphology	65260	COA7	OMIM:618387
HP:0011805	Abnormal skeletal muscle morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0011805	Abnormal skeletal muscle morphology	5255	PHKA1	OMIM:300559
HP:0011805	Abnormal skeletal muscle morphology	22948	CCT5	ORPHA:139578
HP:0011805	Abnormal skeletal muscle morphology	22948	CCT5	OMIM:256840
HP:0011805	Abnormal skeletal muscle morphology	1593	CYP27A1	ORPHA:909
HP:0011805	Abnormal skeletal muscle morphology	57863	CADM3	OMIM:619519
HP:0011805	Abnormal skeletal muscle morphology	1890	TYMP	OMIM:603041
HP:0011805	Abnormal skeletal muscle morphology	5428	POLG	OMIM:603041
HP:0011805	Abnormal skeletal muscle morphology	1639	DCTN1	OMIM:607641
HP:0011805	Abnormal skeletal muscle morphology	6606	SMN1	OMIM:253400
HP:0011805	Abnormal skeletal muscle morphology	6607	SMN2	OMIM:253400
HP:0011805	Abnormal skeletal muscle morphology	8898	MTMR2	OMIM:601382
HP:0011805	Abnormal skeletal muscle morphology	55210	ATAD3A	OMIM:617183
HP:0011805	Abnormal skeletal muscle morphology	26137	ZBTB20	OMIM:259050
HP:0011805	Abnormal skeletal muscle morphology	2521	FUS	ORPHA:300605
HP:0011805	Abnormal skeletal muscle morphology	10280	SIGMAR1	ORPHA:300605
HP:0011805	Abnormal skeletal muscle morphology	10280	SIGMAR1	OMIM:605726
HP:0011805	Abnormal skeletal muscle morphology	476	ATP1A1	OMIM:618036
HP:0011805	Abnormal skeletal muscle morphology	5375	PMP2	OMIM:618279
HP:0011805	Abnormal skeletal muscle morphology	23095	KIF1B	OMIM:118210
HP:0011805	Abnormal skeletal muscle morphology	5192	PEX10	OMIM:614871
HP:0011805	Abnormal skeletal muscle morphology	4649	MYO9A	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	1103	CHAT	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	6576	SLC25A1	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	6843	VAMP1	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	6572	SLC18A3	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	6616	SNAP25	ORPHA:98914
HP:0011805	Abnormal skeletal muscle morphology	11261	CHP1	OMIM:618438
HP:0011805	Abnormal skeletal muscle morphology	5832	ALDH18A1	OMIM:219150
HP:0011805	Abnormal skeletal muscle morphology	7443	VRK1	OMIM:607596
HP:0011805	Abnormal skeletal muscle morphology	6663	SOX10	OMIM:609136
HP:0011805	Abnormal skeletal muscle morphology	56652	TWNK	OMIM:271245
HP:0011805	Abnormal skeletal muscle morphology	9516	LITAF	OMIM:601098
HP:0011805	Abnormal skeletal muscle morphology	9147	NEMF	OMIM:619099
HP:0011805	Abnormal skeletal muscle morphology	178	AGL	OMIM:232400
HP:0011805	Abnormal skeletal muscle morphology	10273	STUB1	ORPHA:412057
HP:0011805	Abnormal skeletal muscle morphology	6389	SDHA	ORPHA:3208
HP:0011805	Abnormal skeletal muscle morphology	6390	SDHB	ORPHA:3208
HP:0011805	Abnormal skeletal muscle morphology	6392	SDHD	ORPHA:3208
HP:0011805	Abnormal skeletal muscle morphology	644096	SDHAF1	ORPHA:3208
HP:0011805	Abnormal skeletal muscle morphology	283	ANG	OMIM:611895
HP:0011805	Abnormal skeletal muscle morphology	79784	MYH14	OMIM:614369
HP:0011805	Abnormal skeletal muscle morphology	23533	PIK3R5	OMIM:615217
HP:0011805	Abnormal skeletal muscle morphology	57731	SPTBN4	OMIM:617519
HP:0011805	Abnormal skeletal muscle morphology	26353	HSPB8	OMIM:608673
HP:0011805	Abnormal skeletal muscle morphology	3098	HK1	ORPHA:99953
HP:0011805	Abnormal skeletal muscle morphology	8139	GAN	OMIM:256850
HP:0011805	Abnormal skeletal muscle morphology	57716	PRX	OMIM:614895
HP:0011805	Abnormal skeletal muscle morphology	57716	PRX	OMIM:145900
HP:0011805	Abnormal skeletal muscle morphology	6310	ATXN1	OMIM:164400
HP:0011805	Abnormal skeletal muscle morphology	1785	DNM2	OMIM:606482
HP:0011805	Abnormal skeletal muscle morphology	8729	GBF1	OMIM:606483
HP:0011805	Abnormal skeletal muscle morphology	57449	PLEKHG5	OMIM:611067
HP:0011805	Abnormal skeletal muscle morphology	29954	POMT2	ORPHA:206559
HP:0011805	Abnormal skeletal muscle morphology	55152	DALRD3	OMIM:618910
HP:0011805	Abnormal skeletal muscle morphology	2859	GPR35	ORPHA:171
HP:0011805	Abnormal skeletal muscle morphology	10507	SEMA4D	ORPHA:171
HP:0011805	Abnormal skeletal muscle morphology	4485	MST1	ORPHA:171
HP:0011805	Abnormal skeletal muscle morphology	6925	TCF4	ORPHA:171
HP:0011805	Abnormal skeletal muscle morphology	4668	NAGA	OMIM:609241
HP:0011805	Abnormal skeletal muscle morphology	4668	NAGA	ORPHA:79279
HP:0011805	Abnormal skeletal muscle morphology	131118	DNAJC19	ORPHA:66634
HP:0011805	Abnormal skeletal muscle morphology	36	ACADSB	OMIM:610006
HP:0011805	Abnormal skeletal muscle morphology	205327	C2orf69	OMIM:619423
HP:0011805	Abnormal skeletal muscle morphology	3703	STT3A	OMIM:619714
HP:0011805	Abnormal skeletal muscle morphology	6473	SHOX	OMIM:127300
HP:0011805	Abnormal skeletal muscle morphology	6473	SHOX	ORPHA:314795
HP:0011805	Abnormal skeletal muscle morphology	2660	MSTN	OMIM:614160
HP:0011805	Abnormal skeletal muscle morphology	372	ARCN1	OMIM:617164
HP:0011805	Abnormal skeletal muscle morphology	9401	RECQL4	ORPHA:221016
HP:0011805	Abnormal skeletal muscle morphology	2591	GALNT3	OMIM:211900
HP:0011805	Abnormal skeletal muscle morphology	50628	GEMIN4	OMIM:617913
HP:0011805	Abnormal skeletal muscle morphology	54809	SAMD9	OMIM:610455
HP:0011805	Abnormal skeletal muscle morphology	8675	STX16	ORPHA:94089
HP:0011805	Abnormal skeletal muscle morphology	846	CASR	OMIM:239200
HP:0011805	Abnormal skeletal muscle morphology	189	AGXT	ORPHA:93598
HP:0011805	Abnormal skeletal muscle morphology	64682	ANAPC1	ORPHA:221008
HP:0011805	Abnormal skeletal muscle morphology	5663	PSEN1	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	5664	PSEN2	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	10452	TOMM40	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	351	APP	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	54209	TREM2	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	10347	ABCA7	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	6653	SORL1	ORPHA:1020
HP:0011805	Abnormal skeletal muscle morphology	4709	NDUFB3	OMIM:618246
HP:0011805	Abnormal skeletal muscle morphology	10049	DNAJB6	ORPHA:34516
HP:0011805	Abnormal skeletal muscle morphology	779	CACNA1S	ORPHA:681
HP:0011805	Abnormal skeletal muscle morphology	779	CACNA1S	ORPHA:79102
HP:0011805	Abnormal skeletal muscle morphology	10008	KCNE3	ORPHA:681
HP:0011805	Abnormal skeletal muscle morphology	8106	PABPN1	ORPHA:270
HP:0011805	Abnormal skeletal muscle morphology	84665	MYPN	ORPHA:171881
HP:0011805	Abnormal skeletal muscle morphology	7169	TPM2	ORPHA:171881
HP:0011805	Abnormal skeletal muscle morphology	2737	GLI3	OMIM:175700
HP:0011805	Abnormal skeletal muscle morphology	859	CAV3	OMIM:123320
HP:0011805	Abnormal skeletal muscle morphology	7317	UBA1	ORPHA:1145
HP:0011805	Abnormal skeletal muscle morphology	100134444	KCNJ18	ORPHA:79102
HP:0011805	Abnormal skeletal muscle morphology	2556	GABRA3	ORPHA:79102
HP:0011805	Abnormal skeletal muscle morphology	203859	ANO5	ORPHA:206549
HP:0011805	Abnormal skeletal muscle morphology	1303	COL12A1	ORPHA:75840
HP:0011805	Abnormal skeletal muscle morphology	1291	COL6A1	ORPHA:75840
HP:0011805	Abnormal skeletal muscle morphology	1292	COL6A2	ORPHA:75840
HP:0011805	Abnormal skeletal muscle morphology	1293	COL6A3	ORPHA:75840
HP:0011805	Abnormal skeletal muscle morphology	10992	SF3B2	OMIM:164210
HP:0011805	Abnormal skeletal muscle morphology	1131	CHRM3	ORPHA:2970
HP:0011805	Abnormal skeletal muscle morphology	1131	CHRM3	OMIM:100100
HP:0011805	Abnormal skeletal muscle morphology	78989	COLEC11	OMIM:265050
HP:0011805	Abnormal skeletal muscle morphology	129563	DIS3L2	OMIM:267000
HP:0011805	Abnormal skeletal muscle morphology	29957	SLC25A24	OMIM:612289
HP:0011805	Abnormal skeletal muscle morphology	4126	MANBA	ORPHA:118
HP:0011805	Abnormal skeletal muscle morphology	8092	ALX1	ORPHA:306542
HP:0011805	Abnormal skeletal muscle morphology	23389	MED13L	ORPHA:369891
HP:0011805	Abnormal skeletal muscle morphology	55628	ZNF407	OMIM:619557
HP:0011805	Abnormal skeletal muscle morphology	23219	FBXO28	OMIM:619777
HP:0011805	Abnormal skeletal muscle morphology	84265	POLR3GL	OMIM:619234
HP:0011805	Abnormal skeletal muscle morphology	4626	MYH8	OMIM:158300
HP:0011805	Abnormal skeletal muscle morphology	4626	MYH8	OMIM:608837
HP:0011805	Abnormal skeletal muscle morphology	4897	NRCAM	OMIM:619833
HP:0011805	Abnormal skeletal muscle morphology	7136	TNNI2	OMIM:601680
HP:0011805	Abnormal skeletal muscle morphology	84340	GFM2	ORPHA:565624
HP:0011805	Abnormal skeletal muscle morphology	60386	SLC25A19	OMIM:613710
HP:0011805	Abnormal skeletal muscle morphology	80232	WDR26	ORPHA:513456
HP:0011805	Abnormal skeletal muscle morphology	6134	RPL10	ORPHA:459070
HP:0011805	Abnormal skeletal muscle morphology	3767	KCNJ11	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	6774	STAT3	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	2645	GCK	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	3651	PDX1	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	6833	ABCC8	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	3630	INS	ORPHA:99885
HP:0011805	Abnormal skeletal muscle morphology	9373	PLAA	ORPHA:521426
HP:0011805	Abnormal skeletal muscle morphology	9373	PLAA	OMIM:617527
HP:0011805	Abnormal skeletal muscle morphology	8818	DPM2	ORPHA:329178
HP:0011805	Abnormal skeletal muscle morphology	1193	CLIC2	ORPHA:324410
HP:0011805	Abnormal skeletal muscle morphology	5830	PEX5	OMIM:616716
HP:0011805	Abnormal skeletal muscle morphology	23556	PIGN	ORPHA:280633
HP:0011805	Abnormal skeletal muscle morphology	64127	NOD2	OMIM:186580
HP:0011805	Abnormal skeletal muscle morphology	23102	TBC1D2B	OMIM:619323
HP:0011805	Abnormal skeletal muscle morphology	1984	EIF5A	OMIM:619376
HP:0011805	Abnormal skeletal muscle morphology	118429	ANTXR2	ORPHA:2028
HP:0011805	Abnormal skeletal muscle morphology	118429	ANTXR2	OMIM:228600
HP:0011805	Abnormal skeletal muscle morphology	2643	GCH1	ORPHA:98808
HP:0011805	Abnormal skeletal muscle morphology	4929	NR4A2	ORPHA:98808
HP:0011805	Abnormal skeletal muscle morphology	3615	IMPDH2	ORPHA:98808
HP:0011805	Abnormal skeletal muscle morphology	9968	MED12	ORPHA:93932
HP:0011805	Abnormal skeletal muscle morphology	6857	SYT1	ORPHA:522077
HP:0011805	Abnormal skeletal muscle morphology	157570	ESCO2	ORPHA:3103
HP:0011805	Abnormal skeletal muscle morphology	51305	KCNK9	ORPHA:166108
HP:0011805	Abnormal skeletal muscle morphology	2201	FBN2	OMIM:121050
HP:0011805	Abnormal skeletal muscle morphology	10216	PRG4	OMIM:208250
HP:0011805	Abnormal skeletal muscle morphology	113179	ADAT3	ORPHA:363528
HP:0011805	Abnormal skeletal muscle morphology	9573	GDF3	ORPHA:2345
HP:0011805	Abnormal skeletal muscle morphology	392255	GDF6	ORPHA:2345
HP:0011805	Abnormal skeletal muscle morphology	392255	GDF6	OMIM:118100
HP:0011805	Abnormal skeletal muscle morphology	4222	MEOX1	ORPHA:2345
HP:0011805	Abnormal skeletal muscle morphology	8831	SYNGAP1	OMIM:612621
HP:0011805	Abnormal skeletal muscle morphology	5528	PPP2R5D	OMIM:616355
HP:0011805	Abnormal skeletal muscle morphology	5528	PPP2R5D	ORPHA:457279
HP:0011805	Abnormal skeletal muscle morphology	4621	MYH3	OMIM:193700
HP:0011805	Abnormal skeletal muscle morphology	284058	KANSL1	OMIM:610443
HP:0011805	Abnormal skeletal muscle morphology	23141	ANKLE2	OMIM:616681
HP:0011805	Abnormal skeletal muscle morphology	51506	UFC1	OMIM:618076
HP:0011805	Abnormal skeletal muscle morphology	10804	GJB6	ORPHA:477
HP:0011805	Abnormal skeletal muscle morphology	2706	GJB2	ORPHA:477
HP:0011805	Abnormal skeletal muscle morphology	2706	GJB2	OMIM:148210
HP:0011805	Abnormal skeletal muscle morphology	9791	PTDSS1	OMIM:151050
HP:0011805	Abnormal skeletal muscle morphology	2222	FDFT1	OMIM:618156
HP:0011805	Abnormal skeletal muscle morphology	64116	SLC39A8	ORPHA:468699
HP:0011805	Abnormal skeletal muscle morphology	1859	DYRK1A	ORPHA:464311
HP:0011805	Abnormal skeletal muscle morphology	6509	SLC1A4	OMIM:616657
HP:0011805	Abnormal skeletal muscle morphology	60681	FKBP10	OMIM:259450
HP:0011805	Abnormal skeletal muscle morphology	4773	NFATC2	OMIM:620232
HP:0011805	Abnormal skeletal muscle morphology	497661	C18orf32	OMIM:619985
HP:0011805	Abnormal skeletal muscle morphology	7407	VARS1	OMIM:617802
HP:0011805	Abnormal skeletal muscle morphology	57498	KIDINS220	OMIM:617296
HP:0011805	Abnormal skeletal muscle morphology	56006	SMG9	OMIM:619995
HP:0011805	Abnormal skeletal muscle morphology	55149	MTPAP	OMIM:613672
HP:0011805	Abnormal skeletal muscle morphology	55149	MTPAP	ORPHA:254343
HP:0011805	Abnormal skeletal muscle morphology	7994	KAT6A	OMIM:616268
HP:0011805	Abnormal skeletal muscle morphology	54834	GDAP2	OMIM:618369
HP:0011805	Abnormal skeletal muscle morphology	23028	KDM1A	OMIM:616728
HP:0011805	Abnormal skeletal muscle morphology	23028	KDM1A	ORPHA:477993
HP:0011805	Abnormal skeletal muscle morphology	84188	FAR1	ORPHA:447753
HP:0011805	Abnormal skeletal muscle morphology	5917	RARS1	ORPHA:438114
HP:0011805	Abnormal skeletal muscle morphology	79152	FA2H	ORPHA:171629
HP:0011805	Abnormal skeletal muscle morphology	4552	MTRR	ORPHA:2169
HP:0011805	Abnormal skeletal muscle morphology	137492	VPS37A	OMIM:614898
HP:0011805	Abnormal skeletal muscle morphology	55343	SLC35C1	ORPHA:99843
HP:0011805	Abnormal skeletal muscle morphology	4137	MAPT	ORPHA:240085
HP:0011805	Abnormal skeletal muscle morphology	4137	MAPT	ORPHA:240071
HP:0011805	Abnormal skeletal muscle morphology	84196	USP48	ORPHA:96253
HP:0011805	Abnormal skeletal muscle morphology	7157	TP53	ORPHA:96253
HP:0011805	Abnormal skeletal muscle morphology	64072	CDH23	ORPHA:96253
HP:0011805	Abnormal skeletal muscle morphology	2908	NR3C1	ORPHA:96253
HP:0011805	Abnormal skeletal muscle morphology	5566	PRKACA	ORPHA:189439
HP:0011805	Abnormal skeletal muscle morphology	8622	PDE8B	ORPHA:189439
HP:0011805	Abnormal skeletal muscle morphology	5573	PRKAR1A	ORPHA:189439
HP:0011805	Abnormal skeletal muscle morphology	50940	PDE11A	ORPHA:189439
HP:0011805	Abnormal skeletal muscle morphology	79798	ARMC5	ORPHA:189427
HP:0011805	Abnormal skeletal muscle morphology	7143	TNR	OMIM:619653
HP:0011805	Abnormal skeletal muscle morphology	65250	CPLANE1	ORPHA:65684
HP:0011805	Abnormal skeletal muscle morphology	57562	CEP126	ORPHA:65684
HP:0011805	Abnormal skeletal muscle morphology	27247	NFU1	OMIM:605711
HP:0011805	Abnormal skeletal muscle morphology	112476	PRRT2	ORPHA:569
HP:0011805	Abnormal skeletal muscle morphology	6323	SCN1A	ORPHA:569
HP:0011805	Abnormal skeletal muscle morphology	8600	TNFSF11	OMIM:259710
HP:0011805	Abnormal skeletal muscle morphology	340075	ARSI	ORPHA:401815
HP:0011805	Abnormal skeletal muscle morphology	340533	NEXMIF	OMIM:300912
HP:0011805	Abnormal skeletal muscle morphology	81545	FBXO38	OMIM:615575
HP:0011805	Abnormal skeletal muscle morphology	4524	MTHFR	ORPHA:395
HP:0011805	Abnormal skeletal muscle morphology	9897	WASHC5	ORPHA:100989
HP:0011805	Abnormal skeletal muscle morphology	9897	WASHC5	OMIM:603563
HP:0011805	Abnormal skeletal muscle morphology	80821	DDHD1	OMIM:609340
HP:0011805	Abnormal skeletal muscle morphology	80821	DDHD1	ORPHA:101008
HP:0011805	Abnormal skeletal muscle morphology	81790	RNF170	OMIM:619686
HP:0011805	Abnormal skeletal muscle morphology	518	ATP5MC3	OMIM:619681
HP:0011805	Abnormal skeletal muscle morphology	2782	GNB1	OMIM:616973
HP:0011805	Abnormal skeletal muscle morphology	51324	SPG21	OMIM:248900
HP:0011805	Abnormal skeletal muscle morphology	51324	SPG21	ORPHA:101001
HP:0011805	Abnormal skeletal muscle morphology	51116	MRPS2	OMIM:617950
HP:0011805	Abnormal skeletal muscle morphology	9692	PRORP	OMIM:619737
HP:0011805	Abnormal skeletal muscle morphology	118813	ZFYVE27	OMIM:610244
HP:0011805	Abnormal skeletal muscle morphology	84668	HYCC1	OMIM:610532
HP:0011805	Abnormal skeletal muscle morphology	9907	AP5Z1	OMIM:613647
HP:0011805	Abnormal skeletal muscle morphology	9907	AP5Z1	ORPHA:306511
HP:0011805	Abnormal skeletal muscle morphology	2313	FLI1	ORPHA:370348
HP:0011805	Abnormal skeletal muscle morphology	5621	PRNP	ORPHA:356
HP:0011805	Abnormal skeletal muscle morphology	5621	PRNP	OMIM:137440
HP:0011805	Abnormal skeletal muscle morphology	3839	KPNA3	OMIM:620106
HP:0011805	Abnormal skeletal muscle morphology	3839	KPNA3	ORPHA:171612
HP:0011805	Abnormal skeletal muscle morphology	3766	KCNJ10	ORPHA:199343
HP:0011805	Abnormal skeletal muscle morphology	4763	NF1	OMIM:162210
HP:0011805	Abnormal skeletal muscle morphology	6253	RTN2	OMIM:604805
HP:0011805	Abnormal skeletal muscle morphology	6253	RTN2	ORPHA:100993
HP:0011805	Abnormal skeletal muscle morphology	51271	UBAP1	ORPHA:100993
HP:0011805	Abnormal skeletal muscle morphology	54539	NDUFB11	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	25915	NDUFAF3	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	91942	NDUFAF2	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4716	NDUFB10	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4723	NDUFV1	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	55572	FOXRED1	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	284184	NDUFAF8	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	55863	TMEM126B	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4729	NDUFV2	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4694	NDUFA1	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4726	NDUFS6	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4728	NDUFS8	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4722	NDUFS3	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	79133	NDUFAF5	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	374291	NDUFS7	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4700	NDUFA6	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4719	NDUFS1	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	4715	NDUFB9	ORPHA:2609
HP:0011805	Abnormal skeletal muscle morphology	2972	BRF1	ORPHA:444072
HP:0011805	Abnormal skeletal muscle morphology	23259	DDHD2	ORPHA:320380
HP:0011805	Abnormal skeletal muscle morphology	54828	BCAS3	OMIM:619641
HP:0011805	Abnormal skeletal muscle morphology	79932	KIAA0319L	ORPHA:220402
HP:0011805	Abnormal skeletal muscle morphology	9150	CTDP1	OMIM:604168
HP:0011805	Abnormal skeletal muscle morphology	9150	CTDP1	ORPHA:48431
HP:0011805	Abnormal skeletal muscle morphology	4099	MAG	OMIM:616680
HP:0011805	Abnormal skeletal muscle morphology	4099	MAG	ORPHA:459056
HP:0011805	Abnormal skeletal muscle morphology	3315	HSPB1	OMIM:606595
HP:0011805	Abnormal skeletal muscle morphology	3315	HSPB1	ORPHA:99940
HP:0011805	Abnormal skeletal muscle morphology	2705	GJB1	ORPHA:101075
HP:0011805	Abnormal skeletal muscle morphology	2705	GJB1	OMIM:302800
HP:0011805	Abnormal skeletal muscle morphology	2705	GJB1	ORPHA:1175
HP:0011805	Abnormal skeletal muscle morphology	3300	DNAJB2	OMIM:614881
HP:0011805	Abnormal skeletal muscle morphology	59345	GNB4	OMIM:615185
HP:0011805	Abnormal skeletal muscle morphology	64423	INF2	OMIM:614455
HP:0011805	Abnormal skeletal muscle morphology	7453	WARS1	OMIM:617721
HP:0011805	Abnormal skeletal muscle morphology	3852	KRT5	ORPHA:79396
HP:0011805	Abnormal skeletal muscle morphology	3861	KRT14	ORPHA:79396
HP:0011805	Abnormal skeletal muscle morphology	9939	RBM8A	OMIM:274000
HP:0011805	Abnormal skeletal muscle morphology	8988	HSPB3	OMIM:613376
HP:0011805	Abnormal skeletal muscle morphology	374969	SVBP	OMIM:618569
HP:0011805	Abnormal skeletal muscle morphology	1678	TIMM8A	OMIM:304700
HP:0011805	Abnormal skeletal muscle morphology	6736	SRY	ORPHA:1772
HP:0011805	Abnormal skeletal muscle morphology	5921	RASA1	ORPHA:90307
HP:0011805	Abnormal skeletal muscle morphology	1180	CLCN1	OMIM:255700
HP:0011805	Abnormal skeletal muscle morphology	9829	DNAJC6	ORPHA:391411
HP:0011805	Abnormal skeletal muscle morphology	5420	PODXL	ORPHA:391411
HP:0011805	Abnormal skeletal muscle morphology	8867	SYNJ1	ORPHA:391411
HP:0011805	Abnormal skeletal muscle morphology	8867	SYNJ1	OMIM:615530
HP:0011805	Abnormal skeletal muscle morphology	55129	ANO10	ORPHA:284289
HP:0011805	Abnormal skeletal muscle morphology	5346	PLIN1	ORPHA:280356
HP:0011805	Abnormal skeletal muscle morphology	63924	CIDEC	ORPHA:435651
HP:0011805	Abnormal skeletal muscle morphology	3736	KCNA1	ORPHA:37612
HP:0011805	Abnormal skeletal muscle morphology	219844	HYLS1	OMIM:236680
HP:0011805	Abnormal skeletal muscle morphology	23312	DMXL2	ORPHA:453533
HP:0011805	Abnormal skeletal muscle morphology	6652	SORD	OMIM:618912
HP:0011805	Abnormal skeletal muscle morphology	79048	SECISBP2	ORPHA:171706
HP:0011805	Abnormal skeletal muscle morphology	1371	CPOX	ORPHA:79273
HP:0011805	Abnormal skeletal muscle morphology	3145	HMBS	ORPHA:79276
HP:0011805	Abnormal skeletal muscle morphology	5498	PPOX	ORPHA:79473
HP:0011805	Abnormal skeletal muscle morphology	3043	HBB	ORPHA:231226
HP:0011805	Abnormal skeletal muscle morphology	3043	HBB	ORPHA:231214
HP:0011805	Abnormal skeletal muscle morphology	1130	LYST	OMIM:214500
HP:0011805	Abnormal skeletal muscle morphology	8888	MCM3AP	OMIM:618124
HP:0011805	Abnormal skeletal muscle morphology	3735	KARS1	OMIM:613641
HP:0011805	Abnormal skeletal muscle morphology	1337	COX6A1	OMIM:616039
HP:0011805	Abnormal skeletal muscle morphology	37	ACADVL	ORPHA:26793
HP:0011805	Abnormal skeletal muscle morphology	37	ACADVL	OMIM:201475
HP:0011805	Abnormal skeletal muscle morphology	2027	ENO3	OMIM:612932
HP:0011805	Abnormal skeletal muscle morphology	2137	EXTL3	ORPHA:508533
HP:0011805	Abnormal skeletal muscle morphology	374879	ZNF699	OMIM:619488
HP:0011805	Abnormal skeletal muscle morphology	196528	ARID2	OMIM:617808
HP:0011805	Abnormal skeletal muscle morphology	8854	ALDH1A2	OMIM:620025
HP:0011805	Abnormal skeletal muscle morphology	7026	NR2F2	OMIM:618901
HP:0011805	Abnormal skeletal muscle morphology	2050	EPHB4	ORPHA:137667
HP:0011805	Abnormal skeletal muscle morphology	2395	FXN	ORPHA:95
HP:0011805	Abnormal skeletal muscle morphology	5307	PITX1	OMIM:186550
HP:0011805	Abnormal skeletal muscle morphology	10664	CTCF	ORPHA:363611
HP:0011805	Abnormal skeletal muscle morphology	219854	TMEM218	OMIM:619562
HP:0011805	Abnormal skeletal muscle morphology	9757	KMT2B	OMIM:619934
HP:0011805	Abnormal skeletal muscle morphology	3720	JARID2	OMIM:620098
HP:0011805	Abnormal skeletal muscle morphology	10765	KDM5B	OMIM:618109
HP:0011805	Abnormal skeletal muscle morphology	10093	ARPC4	OMIM:620141
HP:0011805	Abnormal skeletal muscle morphology	25942	SIN3A	OMIM:613406
HP:0011805	Abnormal skeletal muscle morphology	11011	TLK2	OMIM:618050
HP:0011805	Abnormal skeletal muscle morphology	6909	TBX2	OMIM:618223
HP:0011805	Abnormal skeletal muscle morphology	80816	ASXL3	OMIM:615485
HP:0011805	Abnormal skeletal muscle morphology	7390	UROS	OMIM:263700
HP:0011805	Abnormal skeletal muscle morphology	1277	COL1A1	OMIM:130060
HP:0011805	Abnormal skeletal muscle morphology	6662	SOX9	OMIM:114290
HP:0011805	Abnormal skeletal muscle morphology	4297	KMT2A	OMIM:605130
HP:0011805	Abnormal skeletal muscle morphology	23414	ZFPM2	ORPHA:2140
HP:0011805	Abnormal skeletal muscle morphology	2627	GATA6	ORPHA:2140
HP:0011805	Abnormal skeletal muscle morphology	22800	RRAS2	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	867	CBL	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	8216	LZTR1	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	6016	RIT1	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	6237	RRAS	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	22808	MRAS	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	4893	NRAS	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	6654	SOS1	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	6655	SOS2	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	5922	RASA2	ORPHA:648
HP:0011805	Abnormal skeletal muscle morphology	10225	CD96	ORPHA:1308
HP:0011805	Abnormal skeletal muscle morphology	57192	MCOLN1	ORPHA:578
HP:0011805	Abnormal skeletal muscle morphology	84274	COQ5	OMIM:619028
HP:0011805	Abnormal skeletal muscle morphology	22827	PUF60	ORPHA:508498
HP:0011805	Abnormal skeletal muscle morphology	6495	SIX1	OMIM:113650
HP:0011805	Abnormal skeletal muscle morphology	6495	SIX1	ORPHA:107
HP:0011805	Abnormal skeletal muscle morphology	6495	SIX1	ORPHA:52429
HP:0011805	Abnormal skeletal muscle morphology	56172	ANKH	ORPHA:1522
HP:0011805	Abnormal skeletal muscle morphology	56172	ANKH	OMIM:123000
HP:0011805	Abnormal skeletal muscle morphology	10312	TCIRG1	OMIM:259700
HP:0011805	Abnormal skeletal muscle morphology	23394	ADNP	OMIM:615873
HP:0011805	Abnormal skeletal muscle morphology	57165	GJC2	OMIM:608804
HP:0011805	Abnormal skeletal muscle morphology	29887	SNX10	OMIM:615085
HP:0011805	Abnormal skeletal muscle morphology	29998	BICRA	OMIM:619325
HP:0011805	Abnormal skeletal muscle morphology	9790	BMS1	ORPHA:1114
HP:0011805	Abnormal skeletal muscle morphology	10054	UBA2	ORPHA:1114
HP:0011805	Abnormal skeletal muscle morphology	54567	DLL4	ORPHA:1114
HP:0011805	Abnormal skeletal muscle morphology	4041	LRP5	ORPHA:3416
HP:0011805	Abnormal skeletal muscle morphology	4041	LRP5	ORPHA:2790
HP:0011805	Abnormal skeletal muscle morphology	4041	LRP5	ORPHA:178377
HP:0011805	Abnormal skeletal muscle morphology	9723	SEMA3E	ORPHA:138
HP:0011805	Abnormal skeletal muscle morphology	56244	BTNL2	OMIM:612387
HP:0011805	Abnormal skeletal muscle morphology	56244	BTNL2	ORPHA:797
HP:0011805	Abnormal skeletal muscle morphology	7020	TFAP2A	OMIM:113620
HP:0011805	Abnormal skeletal muscle morphology	84617	TUBB6	OMIM:617732
HP:0011805	Abnormal skeletal muscle morphology	3211	HOXB1	OMIM:614744
HP:0011805	Abnormal skeletal muscle morphology	8085	KMT2D	OMIM:620186
HP:0011805	Abnormal skeletal muscle morphology	80704	SLC19A3	OMIM:607483
HP:0011805	Abnormal skeletal muscle morphology	147912	SIX5	ORPHA:107
HP:0011805	Abnormal skeletal muscle morphology	2934	GSN	ORPHA:85448
HP:0011805	Abnormal skeletal muscle morphology	1186	CLCN7	OMIM:166600
HP:0011805	Abnormal skeletal muscle morphology	1186	CLCN7	OMIM:611490
HP:0011805	Abnormal skeletal muscle morphology	1186	CLCN7	ORPHA:53
HP:0011805	Abnormal skeletal muscle morphology	55670	PEX26	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	5824	PEX19	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	8504	PEX3	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	9409	PEX16	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	8799	PEX11B	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	5193	PEX12	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	5194	PEX13	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	5195	PEX14	ORPHA:772
HP:0011805	Abnormal skeletal muscle morphology	84168	ANTXR1	OMIM:230740
HP:0011805	Abnormal skeletal muscle morphology	28962	OSTM1	OMIM:259720
HP:0011805	Abnormal skeletal muscle morphology	29089	UBE2T	OMIM:616435
HP:0011805	Abnormal skeletal muscle morphology	1757	SARDH	ORPHA:3129
HP:0011805	Abnormal skeletal muscle morphology	567	B2M	ORPHA:314652
HP:0011805	Abnormal skeletal muscle morphology	4556	MT-TE	ORPHA:2596
HP:0011805	Abnormal skeletal muscle morphology	5345	SERPINF2	ORPHA:79
HP:0011805	Abnormal skeletal muscle morphology	2165	F13B	ORPHA:331
HP:0011805	Abnormal skeletal muscle morphology	2162	F13A1	ORPHA:331
HP:0011805	Abnormal skeletal muscle morphology	5054	SERPINE1	ORPHA:465
HP:0011805	Abnormal skeletal muscle morphology	2159	F10	OMIM:227600
HP:0011805	Abnormal skeletal muscle morphology	2159	F10	ORPHA:328
HP:0011805	Abnormal skeletal muscle morphology	2155	F7	OMIM:227500
HP:0011805	Abnormal skeletal muscle morphology	2147	F2	ORPHA:325
HP:0011805	Abnormal skeletal muscle morphology	56997	COQ8A	OMIM:612016
HP:0011805	Abnormal skeletal muscle morphology	2997	GYS1	OMIM:611556
HP:0011805	Abnormal skeletal muscle morphology	3008	H1-4	OMIM:617537
HP:0011805	Abnormal skeletal muscle morphology	84942	WDR73	OMIM:251300
HP:0011805	Abnormal skeletal muscle morphology	2261	FGFR3	OMIM:610474
HP:0011805	Abnormal skeletal muscle morphology	9382	COG1	OMIM:611209
HP:0011805	Abnormal skeletal muscle morphology	7125	TNNC2	OMIM:620161
HP:0011805	Abnormal skeletal muscle morphology	56992	KIF15	ORPHA:261323
HP:0011805	Abnormal skeletal muscle morphology	57589	RIC1	OMIM:618761
HP:0011805	Abnormal skeletal muscle morphology	1272	CNTN1	OMIM:612540
HP:0011805	Abnormal skeletal muscle morphology	64359	NXN	OMIM:618529
HP:0011805	Abnormal skeletal muscle morphology	1301	COL11A1	OMIM:228520
HP:0011805	Abnormal skeletal muscle morphology	80776	B9D2	OMIM:614175
HP:0011805	Abnormal skeletal muscle morphology	1954	MEGF8	OMIM:614976
HP:0011805	Abnormal skeletal muscle morphology	8642	DCHS1	OMIM:601390
HP:0011805	Abnormal skeletal muscle morphology	8642	DCHS1	ORPHA:314679
HP:0011805	Abnormal skeletal muscle morphology	26227	PHGDH	OMIM:256520
HP:0011805	Abnormal skeletal muscle morphology	8260	NAA10	OMIM:309800
HP:0011805	Abnormal skeletal muscle morphology	23512	SUZ12	OMIM:618786
HP:0011805	Abnormal skeletal muscle morphology	7862	BRPF1	OMIM:617333
HP:0011805	Abnormal skeletal muscle morphology	1001	CDH3	OMIM:225280
HP:0011805	Abnormal skeletal muscle morphology	79633	FAT4	OMIM:616006
HP:0011805	Abnormal skeletal muscle morphology	79633	FAT4	ORPHA:314679
HP:0011805	Abnormal skeletal muscle morphology	5828	PEX2	OMIM:614866
HP:0011805	Abnormal skeletal muscle morphology	79228	THOC6	ORPHA:363444
HP:0011805	Abnormal skeletal muscle morphology	4094	MAF	ORPHA:1272
HP:0011805	Abnormal skeletal muscle morphology	4094	MAF	OMIM:601088
HP:0011805	Abnormal skeletal muscle morphology	4089	SMAD4	OMIM:139210
HP:0011805	Abnormal skeletal muscle morphology	8838	CCN6	ORPHA:1159
HP:0011805	Abnormal skeletal muscle morphology	7140	TNNT3	OMIM:618435
HP:0011805	Abnormal skeletal muscle morphology	3239	HOXD13	OMIM:610713
HP:0011805	Abnormal skeletal muscle morphology	11107	PRDM5	ORPHA:90354
HP:0011805	Abnormal skeletal muscle morphology	84627	ZNF469	ORPHA:90354
HP:0011805	Abnormal skeletal muscle morphology	8626	TP63	OMIM:603543
HP:0011805	Abnormal skeletal muscle morphology	23483	TGDS	OMIM:616145
HP:0011805	Abnormal skeletal muscle morphology	4088	SMAD3	OMIM:613795
HP:0011805	Abnormal skeletal muscle morphology	2146	EZH2	OMIM:277590
HP:0011805	Abnormal skeletal muscle morphology	147372	CCBE1	OMIM:235510
HP:0011805	Abnormal skeletal muscle morphology	79087	ALG12	ORPHA:79324
HP:0011805	Abnormal skeletal muscle morphology	257	ALX3	OMIM:136760
HP:0011805	Abnormal skeletal muscle morphology	26100	WIPI2	OMIM:618453
HP:0011805	Abnormal skeletal muscle morphology	8621	CDK13	OMIM:617360
HP:0011805	Abnormal skeletal muscle morphology	9427	ECEL1	OMIM:615065
HP:0011805	Abnormal skeletal muscle morphology	22930	RAB3GAP1	OMIM:619420
HP:0011805	Abnormal skeletal muscle morphology	2702	GJA5	OMIM:612474
HP:0011805	Abnormal skeletal muscle morphology	2703	GJA8	OMIM:612474
HP:0011805	Abnormal skeletal muscle morphology	7046	TGFBR1	OMIM:609192
HP:0011805	Abnormal skeletal muscle morphology	1801	DPH1	ORPHA:459061
HP:0011805	Abnormal skeletal muscle morphology	81848	SPRY4	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	128674	PROKR2	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	60675	PROK2	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	55636	CHD7	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	6870	TACR3	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	1848	DUSP6	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	26012	NSMF	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	55717	WDR11	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	9394	HS6ST1	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	2796	GNRH1	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	2798	GNRHR	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	84634	KISS1R	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	6866	TAC3	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	8822	FGF17	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	3814	KISS1	ORPHA:432
HP:0011805	Abnormal skeletal muscle morphology	1281	COL3A1	OMIM:618343
HP:0011805	Abnormal skeletal muscle morphology	6885	MAP3K7	OMIM:617137
HP:0011805	Abnormal skeletal muscle morphology	55315	SLC29A3	OMIM:602782
HP:0011805	Abnormal skeletal muscle morphology	55315	SLC29A3	ORPHA:168569
HP:0011805	Abnormal skeletal muscle morphology	117581	TWIST2	OMIM:200110
HP:0011805	Abnormal skeletal muscle morphology	84162	BLTP1	OMIM:617822
HP:0011805	Abnormal skeletal muscle morphology	56915	EXOSC5	OMIM:619576
HP:0011805	Abnormal skeletal muscle morphology	92255	LMBRD2	OMIM:619694
HP:0011805	Abnormal skeletal muscle morphology	23511	NUP188	OMIM:618804
HP:0011805	Abnormal skeletal muscle morphology	92344	GORAB	OMIM:231070
HP:0011805	Abnormal skeletal muscle morphology	727857	BHLHA9	OMIM:607539
HP:0011805	Abnormal skeletal muscle morphology	10943	MSL3	OMIM:301032
HP:0011805	Abnormal skeletal muscle morphology	633	BGN	OMIM:300989
HP:0011805	Abnormal skeletal muscle morphology	79576	NKAP	OMIM:301039
HP:0011805	Abnormal skeletal muscle morphology	25	ABL1	OMIM:617602
HP:0011805	Abnormal skeletal muscle morphology	5000	ORC4	OMIM:613800
HP:0011805	Abnormal skeletal muscle morphology	3930	LBR	OMIM:618019
HP:0011805	Abnormal skeletal muscle morphology	55644	OSGEP	OMIM:617729
HP:0011805	Abnormal skeletal muscle morphology	6611	SMS	ORPHA:3063
HP:0011805	Abnormal skeletal muscle morphology	55975	KLHL7	OMIM:617055
HP:0011805	Abnormal skeletal muscle morphology	285590	SH3PXD2B	OMIM:249420
HP:0011805	Abnormal skeletal muscle morphology	51715	RAB23	OMIM:201000
HP:0011805	Abnormal skeletal muscle morphology	1857	DVL3	OMIM:616894
HP:0011805	Abnormal skeletal muscle morphology	83737	ITCH	OMIM:613385
HP:0011805	Abnormal skeletal muscle morphology	83737	ITCH	ORPHA:228426
HP:0011805	Abnormal skeletal muscle morphology	28952	CCDC22	OMIM:300963
HP:0011805	Abnormal skeletal muscle morphology	90416	CCDC32	OMIM:619123
HP:0011805	Abnormal skeletal muscle morphology	139285	AMER1	OMIM:300373
HP:0011805	Abnormal skeletal muscle morphology	6497	SKI	OMIM:182212
HP:0011805	Abnormal skeletal muscle morphology	9487	PIGL	OMIM:280000
HP:0011805	Abnormal skeletal muscle morphology	3868	KRT16	ORPHA:2199
HP:0011805	Abnormal skeletal muscle morphology	3857	KRT9	ORPHA:2199
HP:0011805	Abnormal skeletal muscle morphology	6913	TBX15	OMIM:260660
HP:0011805	Abnormal skeletal muscle morphology	2036	EPB41L1	OMIM:614257
HP:0011805	Abnormal skeletal muscle morphology	523	ATP6V1A	OMIM:617403
HP:0011805	Abnormal skeletal muscle morphology	529	ATP6V1E1	OMIM:617402
HP:0011805	Abnormal skeletal muscle morphology	4233	MET	OMIM:620019
HP:0011805	Abnormal skeletal muscle morphology	26123	TCTN3	OMIM:614815
HP:0011805	Abnormal skeletal muscle morphology	7516	XRCC2	OMIM:617247
HP:0011805	Abnormal skeletal muscle morphology	7490	WT1	OMIM:194080
HP:0011805	Abnormal skeletal muscle morphology	8493	PPM1D	OMIM:617450
HP:0011805	Abnormal skeletal muscle morphology	64065	PERP	OMIM:619208
HP:0011805	Abnormal skeletal muscle morphology	9570	GOSR2	OMIM:620166
HP:0011805	Abnormal skeletal muscle morphology	253738	EBF3	OMIM:617330
HP:0011805	Abnormal skeletal muscle morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0011805	Abnormal skeletal muscle morphology	1621	DBH	OMIM:223360
HP:0011805	Abnormal skeletal muscle morphology	64207	IRF2BPL	OMIM:618088
HP:0011805	Abnormal skeletal muscle morphology	1339	COX6A2	OMIM:619062
HP:0011805	Abnormal skeletal muscle morphology	11277	TREX1	ORPHA:247691
HP:0011805	Abnormal skeletal muscle morphology	442721	LMOD2	OMIM:619897
HP:0011805	Abnormal skeletal muscle morphology	57017	COQ9	OMIM:614654
HP:0011805	Abnormal skeletal muscle morphology	57107	PDSS2	OMIM:614652
HP:0011805	Abnormal skeletal muscle morphology	23387	SIK3	OMIM:618162
HP:0011805	Abnormal skeletal muscle morphology	57038	RARS2	OMIM:611523
HP:0011805	Abnormal skeletal muscle morphology	79644	SRD5A3	OMIM:612713
HP:0011805	Abnormal skeletal muscle morphology	23327	NEDD4L	OMIM:617201
HP:0011805	Abnormal skeletal muscle morphology	197258	FCSK	OMIM:618324
HP:0011805	Abnormal skeletal muscle morphology	2530	FUT8	OMIM:618005
HP:0011805	Abnormal skeletal muscle morphology	11019	LIAS	OMIM:614462
HP:0011805	Abnormal skeletal muscle morphology	54892	NCAPG2	OMIM:618460
HP:0011805	Abnormal skeletal muscle morphology	51501	HIKESHI	OMIM:616881
HP:0011805	Abnormal skeletal muscle morphology	9255	AIMP1	OMIM:260600
HP:0011805	Abnormal skeletal muscle morphology	56270	WDR45B	OMIM:617977
HP:0011805	Abnormal skeletal muscle morphology	5111	PCNA	OMIM:615919
HP:0011805	Abnormal skeletal muscle morphology	145258	GSC	OMIM:602471
HP:0011805	Abnormal skeletal muscle morphology	5424	POLD1	OMIM:615381
HP:0011805	Abnormal skeletal muscle morphology	5159	PDGFRB	OMIM:601812
HP:0011805	Abnormal skeletal muscle morphology	65993	MRPS34	OMIM:617664
HP:0011805	Abnormal skeletal muscle morphology	55331	ACER3	OMIM:617762
HP:0011805	Abnormal skeletal muscle morphology	55640	FLVCR2	OMIM:225790
HP:0011805	Abnormal skeletal muscle morphology	2893	GRIA4	OMIM:617864
HP:0011805	Abnormal skeletal muscle morphology	221927	BRAT1	OMIM:614498
HP:0011805	Abnormal skeletal muscle morphology	6785	ELOVL4	OMIM:614457
HP:0011805	Abnormal skeletal muscle morphology	84334	COA8	ORPHA:436271
HP:0011805	Abnormal skeletal muscle morphology	8294	H4C9	OMIM:619951
HP:0011805	Abnormal skeletal muscle morphology	1947	EFNB1	ORPHA:1520
HP:0011805	Abnormal skeletal muscle morphology	9241	NOG	ORPHA:3250
HP:0011805	Abnormal skeletal muscle morphology	613	BCR	ORPHA:261330
HP:0011805	Abnormal skeletal muscle morphology	1399	CRKL	ORPHA:261330
HP:0011805	Abnormal skeletal muscle morphology	5594	MAPK1	ORPHA:261330
HP:0011805	Abnormal skeletal muscle morphology	72	ACTG2	ORPHA:2604
HP:0011805	Abnormal skeletal muscle morphology	6926	TBX3	ORPHA:3138
HP:0011805	Abnormal skeletal muscle morphology	51360	MBTPS2	ORPHA:2273
HP:0011805	Abnormal skeletal muscle morphology	2697	GJA1	ORPHA:2710
HP:0011805	Abnormal skeletal muscle morphology	2697	GJA1	ORPHA:93404
HP:0011805	Abnormal skeletal muscle morphology	6999	TDO2	OMIM:600627
HP:0011805	Abnormal skeletal muscle morphology	10716	TBR1	ORPHA:1617
HP:0011805	Abnormal skeletal muscle morphology	2535	FZD2	ORPHA:3107
HP:0011805	Abnormal skeletal muscle morphology	9508	ADAMTS3	ORPHA:2136
HP:0011805	Abnormal skeletal muscle morphology	5190	PEX6	ORPHA:3220
HP:0011805	Abnormal skeletal muscle morphology	4952	OCRL	OMIM:309000
HP:0011805	Abnormal skeletal muscle morphology	8517	IKBKG	ORPHA:464
HP:0011805	Abnormal skeletal muscle morphology	10436	EMG1	ORPHA:1270
HP:0011805	Abnormal skeletal muscle morphology	57492	ARID1B	ORPHA:251056
HP:0011805	Abnormal skeletal muscle morphology	1723	DHODH	ORPHA:246
HP:0011805	Abnormal skeletal muscle morphology	3897	L1CAM	ORPHA:2466
HP:0011805	Abnormal skeletal muscle morphology	2245	FGD1	ORPHA:915
HP:0011805	Abnormal skeletal muscle morphology	27238	GPKOW	ORPHA:2570
HP:0011805	Abnormal skeletal muscle morphology	10466	COG5	ORPHA:263487
HP:0011805	Abnormal skeletal muscle morphology	51114	ZDHHC9	ORPHA:776
HP:0011805	Abnormal skeletal muscle morphology	65109	UPF3B	ORPHA:776
HP:0011805	Abnormal skeletal muscle morphology	114548	NLRP3	ORPHA:575
HP:0011805	Abnormal skeletal muscle morphology	2073	ERCC5	ORPHA:1466
HP:0011805	Abnormal skeletal muscle morphology	134701	RIPPLY2	ORPHA:2311
HP:0011805	Abnormal skeletal muscle morphology	10683	DLL3	ORPHA:2311
HP:0011805	Abnormal skeletal muscle morphology	3955	LFNG	ORPHA:2311
HP:0011805	Abnormal skeletal muscle morphology	84667	HES7	ORPHA:2311
HP:0011805	Abnormal skeletal muscle morphology	145873	MESP2	ORPHA:2311
HP:0011805	Abnormal skeletal muscle morphology	81620	CDT1	ORPHA:2554
HP:0011805	Abnormal skeletal muscle morphology	23594	ORC6	ORPHA:2554
HP:0011805	Abnormal skeletal muscle morphology	8318	CDC45	ORPHA:2554
HP:0011805	Abnormal skeletal muscle morphology	990	CDC6	ORPHA:2554
HP:0011805	Abnormal skeletal muscle morphology	51053	GMNN	ORPHA:2554
HP:0011805	Abnormal skeletal muscle morphology	64327	LMBR1	ORPHA:93405
HP:0011805	Abnormal skeletal muscle morphology	7846	TUBA1A	ORPHA:994
HP:0011805	Abnormal skeletal muscle morphology	3914	LAMB3	OMIM:226650
HP:0011805	Abnormal skeletal muscle morphology	64840	PORCN	ORPHA:2092
HP:0011805	Abnormal skeletal muscle morphology	23443	SLC35A3	OMIM:615553
HP:0011805	Abnormal skeletal muscle morphology	64131	XYLT1	ORPHA:1425
HP:0011805	Abnormal skeletal muscle morphology	124583	CANT1	ORPHA:1425
HP:0011805	Abnormal skeletal muscle morphology	51002	TPRKB	ORPHA:2065
HP:0011805	Abnormal skeletal muscle morphology	57122	NUP107	ORPHA:2065
HP:0011805	Abnormal skeletal muscle morphology	55746	NUP133	ORPHA:2065
HP:0011805	Abnormal skeletal muscle morphology	112858	TP53RK	ORPHA:2065
HP:0011805	Abnormal skeletal muscle morphology	8270	LAGE3	ORPHA:2065
HP:0011805	Abnormal skeletal muscle morphology	56916	SMARCAD1	ORPHA:1658
HP:0011805	Abnormal skeletal muscle morphology	50943	FOXP3	ORPHA:37042
HP:0011805	Abnormal skeletal muscle morphology	7132	TNFRSF1A	OMIM:142680
HP:0011805	Abnormal skeletal muscle morphology	7132	TNFRSF1A	ORPHA:32960
HP:0011805	Abnormal skeletal muscle morphology	6696	SPP1	ORPHA:93552
HP:0011805	Abnormal skeletal muscle morphology	3654	IRAK1	ORPHA:93552
HP:0011805	Abnormal skeletal muscle morphology	4210	MEFV	ORPHA:3243
HP:0011805	Abnormal skeletal muscle morphology	4210	MEFV	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	9051	PSTPIP1	ORPHA:69126
HP:0011805	Abnormal skeletal muscle morphology	3662	IRF4	ORPHA:3452
HP:0011805	Abnormal skeletal muscle morphology	10535	RNASEH2A	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	84153	RNASEH2C	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	79621	RNASEH2B	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	100147744	RNU7-1	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	134353	LSM11	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	64135	IFIH1	ORPHA:51
HP:0011805	Abnormal skeletal muscle morphology	149233	IL23R	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	3586	IL10	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	1230	CCR1	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	355	FAS	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	3592	IL12A	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	3106	HLA-B	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	7099	TLR4	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	3459	IFNGR1	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	720	C4A	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	337867	UBAC2	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	51752	ERAP1	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	8302	KLRC4	ORPHA:117
HP:0011805	Abnormal skeletal muscle morphology	4487	MSX1	ORPHA:141291
HP:0011805	Abnormal skeletal muscle morphology	5818	NECTIN1	ORPHA:141291
HP:0011805	Abnormal skeletal muscle morphology	3664	IRF6	ORPHA:141291
HP:0003736	Autophagic vacuoles	9499	MYOT	ORPHA:266
HP:0003736	Autophagic vacuoles	58	ACTA1	ORPHA:97240
HP:0003736	Autophagic vacuoles	1410	CRYAB	ORPHA:399058
HP:0003736	Autophagic vacuoles	353116	RILPL1	OMIM:619790
HP:0003736	Autophagic vacuoles	88	ACTN2	OMIM:618655
HP:0003736	Autophagic vacuoles	23534	TNPO3	OMIM:608423
HP:0003736	Autophagic vacuoles	29967	LRP12	OMIM:164310
HP:0003736	Autophagic vacuoles	11155	LDB3	OMIM:609452
HP:0003737	Mitochondrial myopathy	291	SLC25A4	ORPHA:254892
HP:0003737	Mitochondrial myopathy	5428	POLG	ORPHA:254892
HP:0003737	Mitochondrial myopathy	5428	POLG	ORPHA:254886
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:613662
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:603041
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:258450
HP:0003737	Mitochondrial myopathy	56652	TWNK	ORPHA:254892
HP:0003737	Mitochondrial myopathy	11232	POLG2	ORPHA:254892
HP:0003737	Mitochondrial myopathy	50484	RRM2B	ORPHA:254892
HP:0003737	Mitochondrial myopathy	4512	MT-CO1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4513	MT-CO2	OMIM:540000
HP:0003737	Mitochondrial myopathy	4514	MT-CO3	OMIM:540000
HP:0003737	Mitochondrial myopathy	4519	MT-CYB	OMIM:540000
HP:0003737	Mitochondrial myopathy	4511	MT-TC	OMIM:540000
HP:0003737	Mitochondrial myopathy	4574	MT-TS1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4575	MT-TS2	OMIM:540000
HP:0003737	Mitochondrial myopathy	4558	MT-TF	OMIM:540000
HP:0003737	Mitochondrial myopathy	4541	MT-ND6	OMIM:540000
HP:0003737	Mitochondrial myopathy	4541	MT-ND6	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4567	MT-TL1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4567	MT-TL1	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4540	MT-ND5	OMIM:540000
HP:0003737	Mitochondrial myopathy	4540	MT-ND5	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4566	MT-TK	OMIM:540000
HP:0003737	Mitochondrial myopathy	4566	MT-TK	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4572	MT-TQ	OMIM:540000
HP:0003737	Mitochondrial myopathy	4577	MT-TV	OMIM:540000
HP:0003737	Mitochondrial myopathy	4577	MT-TV	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4578	MT-TW	OMIM:540000
HP:0003737	Mitochondrial myopathy	4578	MT-TW	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4536	MT-ND2	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4536	MT-ND2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4537	MT-ND3	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4537	MT-ND3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4538	MT-ND4	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4508	MT-ATP6	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4508	MT-ATP6	OMIM:551500
HP:0003737	Mitochondrial myopathy	112812	FDX2	OMIM:251900
HP:0003737	Mitochondrial myopathy	54539	NDUFB11	ORPHA:2609
HP:0003737	Mitochondrial myopathy	25915	NDUFAF3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	51103	NDUFAF1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	91942	NDUFAF2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	51300	TIMMDC1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4716	NDUFB10	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4723	NDUFV1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	55572	FOXRED1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	284184	NDUFAF8	ORPHA:2609
HP:0003737	Mitochondrial myopathy	55863	TMEM126B	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4729	NDUFV2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4694	NDUFA1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4720	NDUFS2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4724	NDUFS4	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4726	NDUFS6	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4728	NDUFS8	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4722	NDUFS3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	79133	NDUFAF5	ORPHA:2609
HP:0003737	Mitochondrial myopathy	126328	NDUFA11	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4709	NDUFB3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	80224	NUBPL	ORPHA:2609
HP:0003737	Mitochondrial myopathy	29078	NDUFAF4	ORPHA:2609
HP:0003737	Mitochondrial myopathy	374291	NDUFS7	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4700	NDUFA6	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4719	NDUFS1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4715	NDUFB9	ORPHA:2609
HP:0003737	Mitochondrial myopathy	7084	TK2	ORPHA:254886
HP:0003737	Mitochondrial myopathy	7084	TK2	OMIM:617069
HP:0003737	Mitochondrial myopathy	859	CAV3	OMIM:123320
HP:0003737	Mitochondrial myopathy	1763	DNA2	ORPHA:352470
HP:0003737	Mitochondrial myopathy	1890	TYMP	OMIM:603041
HP:0003737	Mitochondrial myopathy	55154	MSTO1	ORPHA:502423
HP:0003737	Mitochondrial myopathy	50640	PNPLA8	OMIM:251950
HP:0003737	Mitochondrial myopathy	55750	AGK	OMIM:212350
HP:0003737	Mitochondrial myopathy	80324	PUS1	ORPHA:2598
HP:0003737	Mitochondrial myopathy	51067	YARS2	ORPHA:2598
HP:0003737	Mitochondrial myopathy	23479	ISCU	OMIM:255125
HP:0003737	Mitochondrial myopathy	4976	OPA1	ORPHA:1215
HP:0003737	Mitochondrial myopathy	4576	MT-TT	OMIM:551000
HP:0003738	Exercise-induced myalgia	270	AMPD1	ORPHA:45
HP:0003738	Exercise-induced myalgia	270	AMPD1	OMIM:615511
HP:0003738	Exercise-induced myalgia	272	AMPD3	ORPHA:45
HP:0003738	Exercise-induced myalgia	34	ACADM	ORPHA:42
HP:0003738	Exercise-induced myalgia	3939	LDHA	ORPHA:284426
HP:0003738	Exercise-induced myalgia	37	ACADVL	OMIM:201475
HP:0003738	Exercise-induced myalgia	5255	PHKA1	OMIM:300559
HP:0003738	Exercise-induced myalgia	6261	RYR1	OMIM:255320
HP:0003738	Exercise-induced myalgia	6261	RYR1	ORPHA:169189
HP:0003738	Exercise-induced myalgia	6261	RYR1	OMIM:619542
HP:0003738	Exercise-induced myalgia	22954	TRIM32	OMIM:254110
HP:0003738	Exercise-induced myalgia	50484	RRM2B	ORPHA:329336
HP:0003738	Exercise-induced myalgia	246243	RNASEH1	ORPHA:329336
HP:0003738	Exercise-induced myalgia	2318	FLNC	ORPHA:63273
HP:0003738	Exercise-induced myalgia	859	CAV3	OMIM:606072
HP:0003738	Exercise-induced myalgia	5213	PFKM	OMIM:232800
HP:0003738	Exercise-induced myalgia	5837	PYGM	OMIM:232600
HP:0003738	Exercise-induced myalgia	5837	PYGM	ORPHA:368
HP:0003738	Exercise-induced myalgia	1376	CPT2	ORPHA:228302
HP:0003738	Exercise-induced myalgia	1376	CPT2	ORPHA:228305
HP:0003738	Exercise-induced myalgia	9782	MATR3	ORPHA:600
HP:0003738	Exercise-induced myalgia	274	BIN1	ORPHA:169189
HP:0003738	Exercise-induced myalgia	64419	MTMR14	ORPHA:169189
HP:0003738	Exercise-induced myalgia	4618	MYF6	ORPHA:169189
HP:0003738	Exercise-induced myalgia	1785	DNM2	ORPHA:169189
HP:0003738	Exercise-induced myalgia	55863	TMEM126B	OMIM:618250
HP:0003738	Exercise-induced myalgia	5224	PGAM2	OMIM:261670
HP:0003738	Exercise-induced myalgia	8291	DYSF	ORPHA:178400
HP:0003738	Exercise-induced myalgia	8291	DYSF	ORPHA:45448
HP:0003738	Exercise-induced myalgia	3178	HNRNPA1	OMIM:615424
HP:0003738	Exercise-induced myalgia	90523	MLIP	OMIM:620138
HP:0003738	Exercise-induced myalgia	284439	SLC25A42	OMIM:618416
HP:0003738	Exercise-induced myalgia	23175	LPIN1	ORPHA:99845
HP:0003738	Exercise-induced myalgia	4512	MT-CO1	ORPHA:99845
HP:0003738	Exercise-induced myalgia	4514	MT-CO3	ORPHA:99845
HP:0003738	Exercise-induced myalgia	5230	PGK1	ORPHA:713
HP:0003738	Exercise-induced myalgia	4000	LMNA	ORPHA:79474
HP:0003738	Exercise-induced myalgia	6786	STIM1	OMIM:160565
HP:0003738	Exercise-induced myalgia	203859	ANO5	ORPHA:206549
HP:0003739	Myoclonic spasms	25828	TXN2	ORPHA:478029
HP:0003739	Myoclonic spasms	4337	MOCS1	OMIM:252150
HP:0003739	Myoclonic spasms	221927	BRAT1	OMIM:614498
HP:0003739	Myoclonic spasms	4338	MOCS2	OMIM:252160
HP:0003739	Myoclonic spasms	2778	GNAS	ORPHA:94089
HP:0003739	Myoclonic spasms	2778	GNAS	ORPHA:79443
HP:0003739	Myoclonic spasms	2778	GNAS	ORPHA:79444
HP:0003739	Myoclonic spasms	8675	STX16	ORPHA:94089
HP:0003739	Myoclonic spasms	4508	MT-ATP6	ORPHA:644
HP:0003739	Myoclonic spasms	6509	SLC1A4	ORPHA:447997
HP:0003739	Myoclonic spasms	8314	BAP1	ORPHA:2495
HP:0003739	Myoclonic spasms	4771	NF2	ORPHA:2495
HP:0003739	Myoclonic spasms	6598	SMARCB1	ORPHA:2495
HP:0003739	Myoclonic spasms	5155	PDGFB	ORPHA:2495
HP:0003739	Myoclonic spasms	84231	TRAF7	ORPHA:2495
HP:0003739	Myoclonic spasms	6608	SMO	ORPHA:2495
HP:0003739	Myoclonic spasms	207	AKT1	ORPHA:2495
HP:0003739	Myoclonic spasms	5290	PIK3CA	ORPHA:2495
HP:0003739	Myoclonic spasms	7015	TERT	ORPHA:2495
HP:0003739	Myoclonic spasms	51684	SUFU	ORPHA:2495
HP:0003739	Myoclonic spasms	6605	SMARCE1	ORPHA:2495
HP:0003739	Myoclonic spasms	56623	INPP5E	OMIM:213300
HP:0003740	Myotonia with warm-up phenomenon	1180	CLCN1	OMIM:160800
HP:0003740	Myotonia with warm-up phenomenon	1180	CLCN1	OMIM:255700
HP:0003740	Myotonia with warm-up phenomenon	6329	SCN4A	ORPHA:99734
HP:0003741	Congenital muscular dystrophy	57190	SELENON	ORPHA:324604
HP:0003741	Congenital muscular dystrophy	4625	MYH7	ORPHA:324604
HP:0003741	Congenital muscular dystrophy	7273	TTN	ORPHA:324604
HP:0003741	Congenital muscular dystrophy	29925	GMPPB	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	79147	FKRP	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	79147	FKRP	OMIM:606612
HP:0003741	Congenital muscular dystrophy	79147	FKRP	ORPHA:370980
HP:0003741	Congenital muscular dystrophy	79147	FKRP	OMIM:236670
HP:0003741	Congenital muscular dystrophy	79147	FKRP	OMIM:607155
HP:0003741	Congenital muscular dystrophy	29954	POMT2	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	29954	POMT2	OMIM:613156
HP:0003741	Congenital muscular dystrophy	29954	POMT2	OMIM:236670
HP:0003741	Congenital muscular dystrophy	84197	POMK	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	55624	POMGNT1	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	55624	POMGNT1	OMIM:613151
HP:0003741	Congenital muscular dystrophy	10585	POMT1	ORPHA:370959
HP:0003741	Congenital muscular dystrophy	10585	POMT1	OMIM:613155
HP:0003741	Congenital muscular dystrophy	10585	POMT1	ORPHA:370980
HP:0003741	Congenital muscular dystrophy	10585	POMT1	OMIM:236670
HP:0003741	Congenital muscular dystrophy	3908	LAMA2	OMIM:607855
HP:0003741	Congenital muscular dystrophy	3908	LAMA2	ORPHA:258
HP:0003741	Congenital muscular dystrophy	1303	COL12A1	OMIM:616470
HP:0003741	Congenital muscular dystrophy	1291	COL6A1	OMIM:254090
HP:0003741	Congenital muscular dystrophy	1292	COL6A2	OMIM:254090
HP:0003741	Congenital muscular dystrophy	1293	COL6A3	OMIM:254090
HP:0003741	Congenital muscular dystrophy	3679	ITGA7	OMIM:613204
HP:0003741	Congenital muscular dystrophy	4000	LMNA	OMIM:613205
HP:0003741	Congenital muscular dystrophy	2218	FKTN	ORPHA:370980
HP:0003741	Congenital muscular dystrophy	2218	FKTN	OMIM:253800
HP:0003741	Congenital muscular dystrophy	2218	FKTN	OMIM:236670
HP:0003741	Congenital muscular dystrophy	729920	CRPPA	ORPHA:370980
HP:0003741	Congenital muscular dystrophy	9215	LARGE1	OMIM:236670
HP:0003743	Genetic anticipation	773	CACNA1A	OMIM:183086
HP:0003743	Genetic anticipation	4287	ATXN3	OMIM:109150
HP:0003743	Genetic anticipation	1822	ATN1	OMIM:125370
HP:0003743	Genetic anticipation	6683	SPAST	OMIM:182601
HP:0003743	Genetic anticipation	25814	ATXN10	OMIM:603516
HP:0003743	Genetic anticipation	7015	TERT	OMIM:613989
HP:0003743	Genetic anticipation	6311	ATXN2	OMIM:183090
HP:0003743	Genetic anticipation	6310	ATXN1	OMIM:164400
HP:0003743	Genetic anticipation	6314	ATXN7	OMIM:164500
HP:0003744	Genetic anticipation with paternal anticipation bias	6310	ATXN1	OMIM:164400
HP:0003744	Genetic anticipation with paternal anticipation bias	6314	ATXN7	OMIM:164500
HP:0003745	Sporadic	5290	PIK3CA	OMIM:612918
HP:0003745	Sporadic	5290	PIK3CA	OMIM:602501
HP:0003745	Sporadic	2776	GNAQ	OMIM:185300
HP:0003745	Sporadic	26277	TINF2	OMIM:268130
HP:0003745	Sporadic	6208	RPS14	OMIM:153550
HP:0003745	Sporadic	2290	FOXG1	OMIM:613454
HP:0003745	Sporadic	2778	GNAS	OMIM:219080
HP:0003745	Sporadic	2778	GNAS	OMIM:603233
HP:0003745	Sporadic	5156	PDGFRA	OMIM:607685
HP:0003745	Sporadic	4774	NFIA	OMIM:613735
HP:0003745	Sporadic	85358	SHANK3	OMIM:606232
HP:0003745	Sporadic	27235	COQ2	OMIM:146500
HP:0003745	Sporadic	23384	SPECC1L	OMIM:600251
HP:0003745	Sporadic	7681	MKRN3	OMIM:176270
HP:0003745	Sporadic	3653	IPW	OMIM:176270
HP:0003745	Sporadic	54551	MAGEL2	OMIM:176270
HP:0003745	Sporadic	791114	PWRN1	OMIM:176270
HP:0003745	Sporadic	100033413	SNORD116-1	OMIM:176270
HP:0003745	Sporadic	8924	HERC2	OMIM:176270
HP:0003745	Sporadic	145624	PWAR1	OMIM:176270
HP:0003745	Sporadic	23742	NPAP1	OMIM:176270
HP:0003745	Sporadic	338433	SNORD115-1	OMIM:176270
HP:0003745	Sporadic	149775	GNAS-AS1	OMIM:603233
HP:0003745	Sporadic	8675	STX16	OMIM:603233
HP:0003745	Sporadic	2623	GATA1	OMIM:190685
HP:0003745	Sporadic	23095	KIF1B	OMIM:256700
HP:0003745	Sporadic	5048	PAFAH1B1	OMIM:607432
HP:0003745	Sporadic	6197	RPS6KA3	OMIM:303600
HP:0003745	Sporadic	51816	ADA2	OMIM:182410
HP:0003745	Sporadic	4784	NFIX	OMIM:602535
HP:0003745	Sporadic	201163	FLCN	OMIM:610883
HP:0003745	Sporadic	201163	FLCN	OMIM:144700
HP:0003745	Sporadic	3481	IGF2	OMIM:180860
HP:0003745	Sporadic	2317	FLNB	OMIM:108720
HP:0003745	Sporadic	39	ACAT2	OMIM:614055
HP:0003745	Sporadic	6638	SNRPN	OMIM:209850
HP:0003745	Sporadic	6638	SNRPN	OMIM:105830
HP:0003745	Sporadic	7253	TSHR	OMIM:609152
HP:0003745	Sporadic	2260	FGFR1	OMIM:613001
HP:0003745	Sporadic	79813	EHMT1	OMIM:610253
HP:0003745	Sporadic	55636	CHD7	OMIM:214800
HP:0003745	Sporadic	25942	SIN3A	OMIM:613406
HP:0003745	Sporadic	10382	TUBB4A	OMIM:612438
HP:0003745	Sporadic	53834	FGFRL1	OMIM:194190
HP:0003745	Sporadic	1487	CTBP1	OMIM:194190
HP:0003745	Sporadic	3954	LETM1	OMIM:194190
HP:0003745	Sporadic	7468	NSD2	OMIM:194190
HP:0003745	Sporadic	10815	CPLX1	OMIM:194190
HP:0003745	Sporadic	3664	IRF6	OMIM:608864
HP:0003745	Sporadic	3265	HRAS	OMIM:218040
HP:0003745	Sporadic	3265	HRAS	OMIM:163200
HP:0003745	Sporadic	9791	PTDSS1	OMIM:151050
HP:0003745	Sporadic	1816	DRD5	OMIM:606798
HP:0003745	Sporadic	4609	MYC	OMIM:113970
HP:0003745	Sporadic	4137	MAPT	OMIM:172700
HP:0003745	Sporadic	4137	MAPT	OMIM:168600
HP:0003745	Sporadic	5663	PSEN1	OMIM:172700
HP:0003745	Sporadic	1387	CREBBP	OMIM:180849
HP:0003745	Sporadic	2033	EP300	OMIM:180849
HP:0003745	Sporadic	2033	EP300	OMIM:613684
HP:0003745	Sporadic	50937	CDON	OMIM:614226
HP:0003745	Sporadic	5925	RB1	OMIM:180200
HP:0003745	Sporadic	7337	UBE3A	OMIM:105830
HP:0003745	Sporadic	3845	KRAS	OMIM:163200
HP:0003745	Sporadic	4893	NRAS	OMIM:163200
HP:0003745	Sporadic	4893	NRAS	OMIM:249400
HP:0003745	Sporadic	2736	GLI2	OMIM:610829
HP:0003745	Sporadic	26137	ZBTB20	OMIM:259050
HP:0003745	Sporadic	779	CACNA1S	OMIM:188580
HP:0003745	Sporadic	207	AKT1	OMIM:176920
HP:0003745	Sporadic	5832	ALDH18A1	OMIM:219150
HP:0003745	Sporadic	7341	SUMO1	OMIM:613705
HP:0003745	Sporadic	6794	STK11	OMIM:273300
HP:0003745	Sporadic	8915	BCL10	OMIM:273300
HP:0003745	Sporadic	3815	KIT	OMIM:273300
HP:0003745	Sporadic	3815	KIT	OMIM:606764
HP:0003745	Sporadic	2261	FGFR3	OMIM:273300
HP:0003745	Sporadic	6497	SKI	OMIM:182212
HP:0003745	Sporadic	3123	HLA-DRB1	OMIM:181000
HP:0003745	Sporadic	57502	NLGN4X	OMIM:300495
HP:0003745	Sporadic	5604	MAP2K1	OMIM:155950
HP:0003745	Sporadic	10743	RAI1	OMIM:182290
HP:0003745	Sporadic	3717	JAK2	OMIM:263300
HP:0003745	Sporadic	25836	NIPBL	OMIM:122470
HP:0003745	Sporadic	4968	OGG1	OMIM:144700
HP:0003745	Sporadic	11236	RNF139	OMIM:144700
HP:0003745	Sporadic	55193	PBRM1	OMIM:144700
HP:0003745	Sporadic	6927	HNF1A	OMIM:144700
HP:0003745	Sporadic	6928	HNF1B	OMIM:144700
HP:0003745	Sporadic	7428	VHL	OMIM:144700
HP:0003745	Sporadic	6496	SIX3	OMIM:157170
HP:0003745	Sporadic	7248	TSC1	OMIM:607341
HP:0003745	Sporadic	7249	TSC2	OMIM:607341
HP:0003745	Sporadic	2475	MTOR	OMIM:607341
HP:0003745	Sporadic	257	ALX3	OMIM:136760
HP:0003745	Sporadic	6390	SDHB	OMIM:606764
HP:0003745	Sporadic	6391	SDHC	OMIM:606764
HP:0003745	Sporadic	84823	LMNB2	OMIM:608709
HP:0003745	Sporadic	2702	GJA5	OMIM:612474
HP:0003745	Sporadic	2703	GJA8	OMIM:612474
HP:0003745	Sporadic	4208	MEF2C	OMIM:613443
HP:0003745	Sporadic	2747	GLUD2	OMIM:168600
HP:0003745	Sporadic	126	ADH1C	OMIM:168600
HP:0003745	Sporadic	2629	GBA1	OMIM:168600
HP:0003745	Sporadic	4929	NR4A2	OMIM:168600
HP:0003745	Sporadic	6908	TBP	OMIM:168600
HP:0003745	Sporadic	4576	MT-TT	OMIM:168600
HP:0003745	Sporadic	9627	SNCAIP	OMIM:168600
HP:0003745	Sporadic	6311	ATXN2	OMIM:168600
HP:0003745	Sporadic	6315	ATXN8OS	OMIM:168600
HP:0008956	Proximal lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0008956	Proximal lower limb amyotrophy	65055	REEP1	ORPHA:101011
HP:0008956	Proximal lower limb amyotrophy	4625	MYH7	ORPHA:437572
HP:0008956	Proximal lower limb amyotrophy	1778	DYNC1H1	OMIM:158600
HP:0008956	Proximal lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0008956	Proximal lower limb amyotrophy	203547	VMA21	OMIM:310440
HP:0008956	Proximal lower limb amyotrophy	6444	SGCD	ORPHA:219
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98855
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98856
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0008956	Proximal lower limb amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0008956	Proximal lower limb amyotrophy	6606	SMN1	OMIM:253400
HP:0008956	Proximal lower limb amyotrophy	6607	SMN2	OMIM:253400
HP:0008956	Proximal lower limb amyotrophy	2273	FHL1	ORPHA:98863
HP:0008956	Proximal lower limb amyotrophy	2010	EMD	ORPHA:98863
HP:0008956	Proximal lower limb amyotrophy	79188	TMEM43	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	23345	SYNE1	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	23224	SYNE2	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	OMIM:613319
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	OMIM:611307
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	ORPHA:206549
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:597
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:424107
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0003750	Increased muscle fatiguability	270	AMPD1	OMIM:615511
HP:0003750	Increased muscle fatiguability	859	CAV3	OMIM:123320
HP:0003750	Increased muscle fatiguability	1144	CHRND	OMIM:616323
HP:0003750	Increased muscle fatiguability	55863	TMEM126B	OMIM:618250
HP:0003750	Increased muscle fatiguability	29958	DMGDH	ORPHA:243343
HP:0003750	Increased muscle fatiguability	29958	DMGDH	OMIM:605850
HP:0003750	Increased muscle fatiguability	866	SERPINA6	OMIM:611489
HP:0003750	Increased muscle fatiguability	50484	RRM2B	OMIM:613077
HP:0003750	Increased muscle fatiguability	6786	STIM1	OMIM:185070
HP:0003750	Increased muscle fatiguability	272	AMPD3	ORPHA:45
HP:0003750	Increased muscle fatiguability	5213	PFKM	OMIM:232800
HP:0003750	Increased muscle fatiguability	1621	DBH	ORPHA:230
HP:0003750	Increased muscle fatiguability	6329	SCN4A	ORPHA:681
HP:0003750	Increased muscle fatiguability	779	CACNA1S	ORPHA:681
HP:0003750	Increased muscle fatiguability	779	CACNA1S	ORPHA:79102
HP:0003750	Increased muscle fatiguability	10008	KCNE3	ORPHA:681
HP:0003750	Increased muscle fatiguability	5230	PGK1	ORPHA:713
HP:0003750	Increased muscle fatiguability	6566	SLC16A1	OMIM:245340
HP:0003750	Increased muscle fatiguability	100134444	KCNJ18	ORPHA:79102
HP:0003750	Increased muscle fatiguability	2556	GABRA3	ORPHA:79102
HP:0003750	Increased muscle fatiguability	60684	TRAPPC11	ORPHA:369847
HP:0003752	Episodic flaccid weakness	6329	SCN4A	OMIM:613345
HP:0003752	Episodic flaccid weakness	6329	SCN4A	ORPHA:682
HP:0003752	Episodic flaccid weakness	6329	SCN4A	ORPHA:681
HP:0003752	Episodic flaccid weakness	6329	SCN4A	OMIM:170400
HP:0003752	Episodic flaccid weakness	6329	SCN4A	OMIM:170500
HP:0003752	Episodic flaccid weakness	779	CACNA1S	ORPHA:681
HP:0003752	Episodic flaccid weakness	779	CACNA1S	ORPHA:79102
HP:0003752	Episodic flaccid weakness	779	CACNA1S	OMIM:170400
HP:0003752	Episodic flaccid weakness	10008	KCNE3	ORPHA:681
HP:0003752	Episodic flaccid weakness	100134444	KCNJ18	ORPHA:79102
HP:0003752	Episodic flaccid weakness	2556	GABRA3	ORPHA:79102
HP:0003752	Episodic flaccid weakness	3762	KCNJ5	ORPHA:37553
HP:0003752	Episodic flaccid weakness	3759	KCNJ2	ORPHA:37553
HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	7170	TPM3	OMIM:255310
HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	4534	MTM1	ORPHA:596
HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	4633	MYL2	OMIM:619424
HP:0003756	Skeletal myopathy	1311	COMP	ORPHA:750
HP:0003756	Skeletal myopathy	226	ALDOA	ORPHA:57
HP:0003756	Skeletal myopathy	6389	SDHA	ORPHA:3208
HP:0003756	Skeletal myopathy	6390	SDHB	ORPHA:3208
HP:0003756	Skeletal myopathy	6392	SDHD	ORPHA:3208
HP:0003756	Skeletal myopathy	644096	SDHAF1	ORPHA:3208
HP:0003756	Skeletal myopathy	6901	TAFAZZIN	OMIM:302060
HP:0003756	Skeletal myopathy	57104	PNPLA2	ORPHA:565612
HP:0003756	Skeletal myopathy	3032	HADHB	ORPHA:746
HP:0003756	Skeletal myopathy	3030	HADHA	ORPHA:746
HP:0003756	Skeletal myopathy	4556	MT-TE	ORPHA:2596
HP:0003758	Reduced subcutaneous adipose tissue	4000	LMNA	ORPHA:280365
HP:0003758	Reduced subcutaneous adipose tissue	6497	SKI	OMIM:182212
HP:0003758	Reduced subcutaneous adipose tissue	8260	NAA10	OMIM:300855
HP:0003758	Reduced subcutaneous adipose tissue	54345	SOX18	OMIM:137940
HP:0003758	Reduced subcutaneous adipose tissue	2271	FH	OMIM:606812
HP:0003758	Reduced subcutaneous adipose tissue	2074	ERCC6	OMIM:133540
HP:0003758	Reduced subcutaneous adipose tissue	8367	H4C5	OMIM:619950
HP:0003758	Reduced subcutaneous adipose tissue	2200	FBN1	OMIM:154700
HP:0003758	Reduced subcutaneous adipose tissue	2200	FBN1	OMIM:616914
HP:0003758	Reduced subcutaneous adipose tissue	26580	BSCL2	OMIM:269700
HP:0003758	Reduced subcutaneous adipose tissue	26580	BSCL2	ORPHA:363400
HP:0003758	Reduced subcutaneous adipose tissue	7040	TGFB1	OMIM:131300
HP:0003758	Reduced subcutaneous adipose tissue	29957	SLC25A24	OMIM:612289
HP:0003758	Reduced subcutaneous adipose tissue	29957	SLC25A24	ORPHA:2963
HP:0003758	Reduced subcutaneous adipose tissue	3643	INSR	ORPHA:508
HP:0003758	Reduced subcutaneous adipose tissue	3643	INSR	ORPHA:769
HP:0003758	Reduced subcutaneous adipose tissue	11128	POLR3A	OMIM:264090
HP:0003758	Reduced subcutaneous adipose tissue	11128	POLR3A	ORPHA:3455
HP:0003758	Reduced subcutaneous adipose tissue	256297	PTF1A	OMIM:609069
HP:0003758	Reduced subcutaneous adipose tissue	10555	AGPAT2	OMIM:608594
HP:0003758	Reduced subcutaneous adipose tissue	5346	PLIN1	ORPHA:280356
HP:0003758	Reduced subcutaneous adipose tissue	5468	PPARG	OMIM:604367
HP:0003758	Reduced subcutaneous adipose tissue	221496	LEMD2	OMIM:619322
HP:0003758	Reduced subcutaneous adipose tissue	6514	SLC2A2	OMIM:227810
HP:0003758	Reduced subcutaneous adipose tissue	51305	KCNK9	OMIM:612292
HP:0003758	Reduced subcutaneous adipose tissue	7156	TOP3A	OMIM:618097
HP:0003758	Reduced subcutaneous adipose tissue	7043	TGFB3	OMIM:615582
HP:0003758	Reduced subcutaneous adipose tissue	523	ATP6V1A	OMIM:617403
HP:0003758	Reduced subcutaneous adipose tissue	529	ATP6V1E1	OMIM:617402
HP:0003758	Reduced subcutaneous adipose tissue	55131	RBM28	OMIM:612079
HP:0003758	Reduced subcutaneous adipose tissue	2783	GNB2	OMIM:619503
HP:0003758	Reduced subcutaneous adipose tissue	3480	IGF1R	OMIM:270450
HP:0003758	Reduced subcutaneous adipose tissue	1161	ERCC8	OMIM:216400
HP:0003758	Reduced subcutaneous adipose tissue	3763	KCNJ6	OMIM:614098
HP:0003758	Reduced subcutaneous adipose tissue	857	CAV1	OMIM:606721
HP:0003758	Reduced subcutaneous adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0003759	Hypoplasia of lymphatic vessels	2324	FLT4	OMIM:153100
HP:0003760	Percussion-induced rapid rolling muscle contractions	859	CAV3	OMIM:606072
HP:0003760	Percussion-induced rapid rolling muscle contractions	859	CAV3	ORPHA:488650
HP:0003760	Percussion-induced rapid rolling muscle contractions	3094	HINT1	ORPHA:324442
HP:0003761	Calcinosis	3930	LBR	OMIM:613471
HP:0003761	Calcinosis	9401	RECQL4	ORPHA:221016
HP:0003761	Calcinosis	2591	GALNT3	OMIM:211900
HP:0003761	Calcinosis	50628	GEMIN4	OMIM:617913
HP:0003761	Calcinosis	54809	SAMD9	OMIM:610455
HP:0003761	Calcinosis	4000	LMNA	OMIM:248370
HP:0003761	Calcinosis	2778	GNAS	ORPHA:94089
HP:0003761	Calcinosis	2778	GNAS	ORPHA:79443
HP:0003761	Calcinosis	2778	GNAS	ORPHA:79444
HP:0003761	Calcinosis	8675	STX16	ORPHA:94089
HP:0003761	Calcinosis	846	CASR	OMIM:239200
HP:0003761	Calcinosis	10269	ZMPSTE24	ORPHA:90154
HP:0003761	Calcinosis	189	AGXT	ORPHA:93598
HP:0003761	Calcinosis	64682	ANAPC1	ORPHA:221008
HP:0003762	Uterus didelphys	2535	FZD2	OMIM:164745
HP:0003762	Uterus didelphys	8312	AXIN1	OMIM:607864
HP:0003762	Uterus didelphys	55112	DYNC2I1	ORPHA:93271
HP:0003762	Uterus didelphys	57560	IFT80	ORPHA:93271
HP:0003762	Uterus didelphys	57539	WDR35	ORPHA:93271
HP:0003762	Uterus didelphys	79659	DYNC2H1	ORPHA:93271
HP:0003762	Uterus didelphys	89891	DYNC2I2	ORPHA:93271
HP:0003762	Uterus didelphys	2625	GATA3	ORPHA:2237
HP:0003762	Uterus didelphys	2625	GATA3	OMIM:146255
HP:0003762	Uterus didelphys	4659	PPP1R12A	OMIM:618820
HP:0003762	Uterus didelphys	27152	INTU	OMIM:617925
HP:0003762	Uterus didelphys	3209	HOXA13	OMIM:140000
HP:0003762	Uterus didelphys	7490	WT1	OMIM:194080
HP:0003763	Bruxism	5138	PDE2A	OMIM:619150
HP:0003763	Bruxism	55777	MBD5	OMIM:156200
HP:0003763	Bruxism	4204	MECP2	OMIM:300055
HP:0003763	Bruxism	4204	MECP2	OMIM:300260
HP:0003763	Bruxism	4204	MECP2	OMIM:312750
HP:0003763	Bruxism	56992	KIF15	ORPHA:261323
HP:0003763	Bruxism	83696	TRAPPC9	OMIM:613192
HP:0003763	Bruxism	288	ANK3	OMIM:615493
HP:0003763	Bruxism	288	ANK3	ORPHA:356996
HP:0003763	Bruxism	8367	H4C5	OMIM:619950
HP:0003763	Bruxism	340533	NEXMIF	OMIM:300912
HP:0003763	Bruxism	23221	RHOBTB2	OMIM:618004
HP:0003763	Bruxism	3899	AFF3	OMIM:619297
HP:0003763	Bruxism	54517	PUS7	OMIM:618342
HP:0003763	Bruxism	6711	SPTBN1	OMIM:619475
HP:0003763	Bruxism	85358	SHANK3	ORPHA:48652
HP:0003763	Bruxism	85358	SHANK3	OMIM:606232
HP:0003763	Bruxism	816	CAMK2B	OMIM:617799
HP:0003763	Bruxism	3064	HTT	OMIM:617435
HP:0003763	Bruxism	2290	FOXG1	OMIM:613454
HP:0003763	Bruxism	23394	ADNP	OMIM:615873
HP:0003763	Bruxism	781	CACNA2D1	OMIM:620149
HP:0003763	Bruxism	93210	PGAP3	OMIM:615716
HP:0003763	Bruxism	3190	HNRNPK	ORPHA:352665
HP:0003763	Bruxism	3190	HNRNPK	ORPHA:453504
HP:0003763	Bruxism	9839	ZEB2	ORPHA:261537
HP:0003763	Bruxism	9839	ZEB2	ORPHA:261552
HP:0003763	Bruxism	6792	CDKL5	ORPHA:505652
HP:0003763	Bruxism	10087	CERT1	OMIM:616351
HP:0003763	Bruxism	774	CACNA1B	OMIM:618497
HP:0003763	Bruxism	10533	ATG7	OMIM:619422
HP:0003763	Bruxism	1917	EEF1A2	OMIM:616393
HP:0003763	Bruxism	2902	GRIN1	OMIM:614254
HP:0003763	Bruxism	23230	VPS13A	ORPHA:2388
HP:0003763	Bruxism	22907	DHX30	OMIM:617804
HP:0003763	Bruxism	9568	GABBR2	OMIM:617903
HP:0003763	Bruxism	2783	GNB2	OMIM:619503
HP:0003763	Bruxism	10472	ZBTB18	OMIM:612337
HP:0003763	Bruxism	84628	NTNG2	OMIM:618718
HP:0003764	Nevus	5144	PDE4D	ORPHA:950
HP:0003764	Nevus	1139	CHRNA7	ORPHA:199318
HP:0003764	Nevus	23512	SUZ12	OMIM:618786
HP:0003764	Nevus	6711	SPTBN1	OMIM:619475
HP:0003764	Nevus	3257	HPS1	OMIM:203300
HP:0003764	Nevus	5781	PTPN11	ORPHA:500
HP:0003764	Nevus	5781	PTPN11	ORPHA:648
HP:0003764	Nevus	5894	RAF1	ORPHA:500
HP:0003764	Nevus	5894	RAF1	ORPHA:648
HP:0003764	Nevus	207	AKT1	ORPHA:744
HP:0003764	Nevus	207	AKT1	ORPHA:201
HP:0003764	Nevus	2263	FGFR2	ORPHA:1555
HP:0003764	Nevus	2263	FGFR2	ORPHA:207
HP:0003764	Nevus	4982	TNFRSF11B	ORPHA:2801
HP:0003764	Nevus	8792	TNFRSF11A	ORPHA:2801
HP:0003764	Nevus	8626	TP63	ORPHA:978
HP:0003764	Nevus	63915	BLOC1S5	OMIM:619172
HP:0003764	Nevus	5727	PTCH1	ORPHA:377
HP:0003764	Nevus	8643	PTCH2	ORPHA:377
HP:0003764	Nevus	51684	SUFU	ORPHA:377
HP:0003764	Nevus	4784	NFIX	OMIM:602535
HP:0003764	Nevus	2146	EZH2	OMIM:277590
HP:0003764	Nevus	22800	RRAS2	ORPHA:648
HP:0003764	Nevus	867	CBL	ORPHA:648
HP:0003764	Nevus	8216	LZTR1	ORPHA:648
HP:0003764	Nevus	6016	RIT1	ORPHA:648
HP:0003764	Nevus	6237	RRAS	ORPHA:648
HP:0003764	Nevus	22808	MRAS	ORPHA:648
HP:0003764	Nevus	200734	SPRED2	ORPHA:648
HP:0003764	Nevus	6654	SOS1	ORPHA:648
HP:0003764	Nevus	6655	SOS2	ORPHA:648
HP:0003764	Nevus	5922	RASA2	ORPHA:648
HP:0003764	Nevus	2077	ERF	ORPHA:207
HP:0003764	Nevus	60681	FKBP10	ORPHA:1149
HP:0003764	Nevus	10483	SEC23B	ORPHA:201
HP:0003764	Nevus	6390	SDHB	ORPHA:201
HP:0003764	Nevus	6392	SDHD	ORPHA:201
HP:0003764	Nevus	6391	SDHC	ORPHA:201
HP:0003764	Nevus	205717	USF3	ORPHA:201
HP:0003764	Nevus	100144748	KLLN	ORPHA:201
HP:0003764	Nevus	1281	COL3A1	ORPHA:286
HP:0003764	Nevus	8726	EED	OMIM:617561
HP:0003764	Nevus	4352	MPL	ORPHA:3319
HP:0003764	Nevus	7066	THPO	ORPHA:3319
HP:0003764	Nevus	1001	CDH3	ORPHA:1573
HP:0003764	Nevus	2200	FBN1	OMIM:616914
HP:0003764	Nevus	7299	TYR	ORPHA:79434
HP:0003764	Nevus	2068	ERCC2	ORPHA:910
HP:0003764	Nevus	7507	XPA	ORPHA:910
HP:0003764	Nevus	2071	ERCC3	ORPHA:910
HP:0003764	Nevus	7508	XPC	ORPHA:910
HP:0003764	Nevus	1643	DDB2	ORPHA:910
HP:0003764	Nevus	2072	ERCC4	ORPHA:910
HP:0003764	Nevus	2073	ERCC5	ORPHA:910
HP:0003764	Nevus	4920	ROR2	OMIM:268310
HP:0003764	Nevus	4920	ROR2	ORPHA:1507
HP:0003764	Nevus	22827	PUF60	ORPHA:508498
HP:0003764	Nevus	80267	EDEM3	OMIM:619493
HP:0003764	Nevus	1028	CDKN1C	OMIM:130650
HP:0003764	Nevus	10984	KCNQ1OT1	OMIM:130650
HP:0003764	Nevus	3481	IGF2	OMIM:130650
HP:0003764	Nevus	3481	IGF2	ORPHA:231140
HP:0003764	Nevus	3784	KCNQ1	OMIM:130650
HP:0003764	Nevus	5290	PIK3CA	ORPHA:60040
HP:0003764	Nevus	91754	NEK9	ORPHA:64754
HP:0003764	Nevus	6804	STX1A	ORPHA:904
HP:0003764	Nevus	7461	CLIP2	ORPHA:904
HP:0003764	Nevus	84277	DNAJC30	ORPHA:904
HP:0003764	Nevus	8468	FKBP6	ORPHA:904
HP:0003764	Nevus	5982	RFC2	ORPHA:904
HP:0003764	Nevus	2969	GTF2I	ORPHA:904
HP:0003764	Nevus	3984	LIMK1	ORPHA:904
HP:0003764	Nevus	9569	GTF2IRD1	ORPHA:904
HP:0003764	Nevus	155382	VPS37D	ORPHA:904
HP:0003764	Nevus	155368	METTL27	ORPHA:904
HP:0003764	Nevus	114049	BUD23	ORPHA:904
HP:0003764	Nevus	7458	EIF4H	ORPHA:904
HP:0003764	Nevus	84163	GTF2IRD2	ORPHA:904
HP:0003764	Nevus	9275	BCL7B	ORPHA:904
HP:0003764	Nevus	26608	TBL2	ORPHA:904
HP:0003764	Nevus	653361	NCF1	ORPHA:904
HP:0003764	Nevus	135886	TMEM270	ORPHA:904
HP:0003764	Nevus	51085	MLXIPL	ORPHA:904
HP:0003764	Nevus	9031	BAZ1B	ORPHA:904
HP:0003764	Nevus	2006	ELN	ORPHA:904
HP:0003764	Nevus	2260	FGFR1	ORPHA:2396
HP:0003764	Nevus	3845	KRAS	ORPHA:2396
HP:0003764	Nevus	64359	NXN	ORPHA:1507
HP:0003764	Nevus	2776	GNAQ	OMIM:163000
HP:0003764	Nevus	2776	GNAQ	ORPHA:624
HP:0003764	Nevus	7474	WNT5A	OMIM:180700
HP:0003764	Nevus	1855	DVL1	OMIM:180700
HP:0003764	Nevus	283120	H19	ORPHA:231140
HP:0003764	Nevus	171023	ASXL1	ORPHA:97297
HP:0003764	Nevus	171023	ASXL1	OMIM:605039
HP:0003764	Nevus	1836	SLC26A2	OMIM:222600
HP:0003764	Nevus	7043	TGFB3	OMIM:615582
HP:0003764	Nevus	26040	SETBP1	OMIM:616078
HP:0003764	Nevus	4591	TRIM37	OMIM:253250
HP:0003764	Nevus	1545	CYP1B1	ORPHA:98976
HP:0003764	Nevus	4053	LTBP2	ORPHA:98976
HP:0003764	Nevus	4653	MYOC	ORPHA:98976
HP:0003764	Nevus	7010	TEK	ORPHA:98976
HP:0003764	Nevus	9126	SMC3	OMIM:610759
HP:0003764	Nevus	7703	PCGF2	OMIM:618371
HP:0003764	Nevus	284058	KANSL1	ORPHA:363965
HP:0003764	Nevus	284058	KANSL1	ORPHA:363958
HP:0003764	Nevus	2261	FGFR3	OMIM:162900
HP:0003764	Nevus	4893	NRAS	OMIM:162900
HP:0003764	Nevus	3265	HRAS	OMIM:162900
HP:0003764	Nevus	1019	CDK4	OMIM:609048
HP:0003764	Nevus	5573	PRKAR1A	ORPHA:1359
HP:0003764	Nevus	50940	PDE11A	ORPHA:1359
HP:0003764	Nevus	6794	STK11	OMIM:155600
HP:0003764	Nevus	673	BRAF	OMIM:155600
HP:0003764	Nevus	3861	KRT14	ORPHA:89838
HP:0003764	Nevus	8367	H4C5	OMIM:619950
HP:0003764	Nevus	60529	ALX4	OMIM:613451
HP:0003764	Nevus	998	CDC42	ORPHA:487796
HP:0003764	Nevus	998	CDC42	OMIM:616737
HP:0003764	Nevus	340665	CYP26C1	ORPHA:398189
HP:0003764	Nevus	3008	H1-4	OMIM:617537
HP:0003764	Nevus	4621	MYH3	ORPHA:2990
HP:0003764	Nevus	1146	CHRNG	ORPHA:2990
HP:0003764	Nevus	1854	DUT	OMIM:620044
HP:0003764	Nevus	1009	CDH11	OMIM:211380
HP:0003764	Nevus	55027	HEATR3	OMIM:620072
HP:0003764	Nevus	55869	HDAC8	OMIM:300882
HP:0003764	Nevus	10943	MSL3	OMIM:301032
HP:0003764	Nevus	1294	COL7A1	ORPHA:89842
HP:0003764	Nevus	5888	RAD51	OMIM:617244
HP:0003764	Nevus	8314	BAP1	ORPHA:618
HP:0003764	Nevus	4286	MITF	ORPHA:618
HP:0003764	Nevus	4255	MGMT	ORPHA:618
HP:0003764	Nevus	54386	TERF2IP	ORPHA:618
HP:0003764	Nevus	65057	ACD	ORPHA:618
HP:0003764	Nevus	1029	CDKN2A	ORPHA:618
HP:0003764	Nevus	7015	TERT	ORPHA:618
HP:0003764	Nevus	25913	POT1	ORPHA:618
HP:0003764	Nevus	1030	CDKN2B	ORPHA:618
HP:0003764	Nevus	51151	SLC45A2	ORPHA:79435
HP:0003764	Nevus	55252	ASXL2	OMIM:617190
HP:0003764	Nevus	81857	MED25	ORPHA:464738
HP:0003764	Nevus	81857	MED25	OMIM:616449
HP:0003764	Nevus	3930	LBR	OMIM:618019
HP:0003764	Nevus	118924	FRA10AC1	OMIM:620113
HP:0003764	Nevus	9939	RBM8A	ORPHA:3320
HP:0003764	Nevus	9939	RBM8A	OMIM:274000
HP:0003764	Nevus	5354	PLP1	ORPHA:280229
HP:0003764	Nevus	8621	CDK13	OMIM:617360
HP:0003764	Nevus	8558	CDK10	OMIM:617694
HP:0003764	Nevus	55131	RBM28	ORPHA:157954
HP:0003764	Nevus	4157	MC1R	ORPHA:79432
HP:0003764	Nevus	4948	OCA2	ORPHA:79432
HP:0003764	Nevus	7249	TSC2	OMIM:613254
HP:0003764	Nevus	7249	TSC2	ORPHA:805
HP:0003764	Nevus	7249	TSC2	ORPHA:538
HP:0003764	Nevus	3458	IFNG	OMIM:613254
HP:0003764	Nevus	3458	IFNG	ORPHA:805
HP:0003764	Nevus	7248	TSC1	ORPHA:805
HP:0003764	Nevus	7248	TSC1	OMIM:191100
HP:0003764	Nevus	7248	TSC1	ORPHA:538
HP:0003764	Nevus	5728	PTEN	ORPHA:2969
HP:0003764	Nevus	29957	SLC25A24	ORPHA:2963
HP:0003764	Nevus	1857	DVL3	ORPHA:3107
HP:0003764	Nevus	2535	FZD2	ORPHA:3107
HP:0003764	Nevus	129563	DIS3L2	ORPHA:2849
HP:0003764	Nevus	6608	SMO	OMIM:601707
HP:0003764	Nevus	50814	NSDHL	OMIM:308050
HP:0003764	Nevus	23592	LEMD3	OMIM:166700
HP:0003764	Nevus	815	CAMK2A	OMIM:617798
HP:0003764	Nevus	3074	HEXB	ORPHA:309155
HP:0003764	Nevus	55617	TASP1	OMIM:618950
HP:0003764	Nevus	7306	TYRP1	ORPHA:79433
HP:0003764	Nevus	83480	PUS3	ORPHA:488627
HP:0003764	Nevus	54914	FOCAD	OMIM:619991
HP:0003764	Nevus	2767	GNA11	ORPHA:1556
HP:0003764	Nevus	151188	ARL6IP6	ORPHA:1556
HP:0003765	Psoriasiform dermatitis	10804	GJB6	ORPHA:477
HP:0003765	Psoriasiform dermatitis	2706	GJB2	ORPHA:477
HP:0003765	Psoriasiform dermatitis	4791	NFKB2	ORPHA:293978
HP:0003765	Psoriasiform dermatitis	4791	NFKB2	OMIM:615577
HP:0003765	Psoriasiform dermatitis	57217	TTC7A	OMIM:243150
HP:0003765	Psoriasiform dermatitis	57217	TTC7A	ORPHA:436252
HP:0003765	Psoriasiform dermatitis	8913	CACNA1G	ORPHA:458803
HP:0003765	Psoriasiform dermatitis	1493	CTLA4	OMIM:616100
HP:0003765	Psoriasiform dermatitis	3107	HLA-C	OMIM:177900
HP:0003765	Psoriasiform dermatitis	2625	GATA3	ORPHA:2237
HP:0003765	Psoriasiform dermatitis	130340	AP1S3	OMIM:616106
HP:0003765	Psoriasiform dermatitis	50943	FOXP3	ORPHA:37042
HP:0003765	Psoriasiform dermatitis	64919	BCL11B	OMIM:617237
HP:0003765	Psoriasiform dermatitis	5297	PI4KA	ORPHA:436252
HP:0003765	Psoriasiform dermatitis	26525	IL36RN	OMIM:614204
HP:0003765	Psoriasiform dermatitis	3119	HLA-DQB1	ORPHA:703
HP:0003765	Psoriasiform dermatitis	3123	HLA-DRB1	ORPHA:703
HP:0003765	Psoriasiform dermatitis	5293	PIK3CD	ORPHA:221139
HP:0003765	Psoriasiform dermatitis	90417	KNSTRN	ORPHA:221139
HP:0003765	Psoriasiform dermatitis	3514	IGKC	ORPHA:183675
HP:0003765	Psoriasiform dermatitis	3501	IGHG2	ORPHA:183675
HP:0003765	Psoriasiform dermatitis	3106	HLA-B	OMIM:106300
HP:0003765	Psoriasiform dermatitis	3981	LIG4	OMIM:606593
HP:0003765	Psoriasiform dermatitis	79092	CARD14	OMIM:602723
HP:0003765	Psoriasiform dermatitis	8626	TP63	ORPHA:69085
HP:0003765	Psoriasiform dermatitis	2313	FLI1	OMIM:617443
HP:0003765	Psoriasiform dermatitis	359948	IRF2BP2	OMIM:617765
HP:0003765	Psoriasiform dermatitis	55315	SLC29A3	ORPHA:168569
HP:0003765	Psoriasiform dermatitis	6307	MSMO1	OMIM:616834
HP:0003765	Psoriasiform dermatitis	1828	DSG1	OMIM:615508
HP:0003765	Psoriasiform dermatitis	3559	IL2RA	OMIM:606367
HP:0003765	Psoriasiform dermatitis	6868	ADAM17	ORPHA:294023
HP:0003765	Psoriasiform dermatitis	1956	EGFR	ORPHA:294023
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2121	EVC	OMIM:225500
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	132884	EVC2	OMIM:225500
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	54808	DYM	OMIM:223800
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	59341	TRPV4	OMIM:184252
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	4882	NPR2	OMIM:602875
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	26160	IFT172	OMIM:615630
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	4750	NEK1	ORPHA:2751
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2131	EXT1	ORPHA:502
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	25839	COG4	OMIM:618150
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	25839	COG4	ORPHA:85172
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	3549	IHH	OMIM:607778
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9742	IFT140	OMIM:617781
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	633	BGN	OMIM:300106
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	860	RUNX2	OMIM:119600
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9321	TRIP11	OMIM:184260
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	375056	MIA3	OMIM:619269
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	51098	IFT52	OMIM:617102
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	545	ATR	OMIM:210600
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	5573	PRKAR1A	OMIM:101800
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	6023	RMRP	OMIM:250460
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2879	GPX4	OMIM:250220
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	28957	MRPS28	OMIM:618958
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0001249	Intellectual disability	401474	SAMD12	OMIM:601068
HP:0001249	Intellectual disability	401474	SAMD12	ORPHA:86814
HP:0001249	Intellectual disability	875	CBS	ORPHA:394
HP:0001249	Intellectual disability	875	CBS	OMIM:236200
HP:0001249	Intellectual disability	4524	MTHFR	ORPHA:395
HP:0001249	Intellectual disability	51569	UFM1	OMIM:617899
HP:0001249	Intellectual disability	1024	CDK8	OMIM:618748
HP:0001249	Intellectual disability	51099	ABHD5	OMIM:275630
HP:0001249	Intellectual disability	55209	SETD5	ORPHA:404440
HP:0001249	Intellectual disability	55209	SETD5	OMIM:615761
HP:0001249	Intellectual disability	2731	GLDC	OMIM:605899
HP:0001249	Intellectual disability	275	AMT	OMIM:605899
HP:0001249	Intellectual disability	215	ABCD1	ORPHA:388
HP:0001249	Intellectual disability	5979	RET	ORPHA:388
HP:0001249	Intellectual disability	5979	RET	ORPHA:99803
HP:0001249	Intellectual disability	2668	GDNF	ORPHA:388
HP:0001249	Intellectual disability	6608	SMO	ORPHA:388
HP:0001249	Intellectual disability	6608	SMO	ORPHA:1553
HP:0001249	Intellectual disability	1889	ECE1	ORPHA:388
HP:0001249	Intellectual disability	6720	SREBF1	ORPHA:388
HP:0001249	Intellectual disability	1908	EDN3	ORPHA:388
HP:0001249	Intellectual disability	223117	SEMA3D	ORPHA:388
HP:0001249	Intellectual disability	538	ATP7A	ORPHA:388
HP:0001249	Intellectual disability	538	ATP7A	ORPHA:565
HP:0001249	Intellectual disability	538	ATP7A	ORPHA:198
HP:0001249	Intellectual disability	538	ATP7A	OMIM:309400
HP:0001249	Intellectual disability	1910	EDNRB	ORPHA:388
HP:0001249	Intellectual disability	10512	SEMA3C	ORPHA:388
HP:0001249	Intellectual disability	2064	ERBB2	ORPHA:388
HP:0001249	Intellectual disability	2065	ERBB3	ORPHA:388
HP:0001249	Intellectual disability	4902	NRTN	ORPHA:388
HP:0001249	Intellectual disability	396	ARHGDIA	OMIM:615244
HP:0001249	Intellectual disability	283489	CHAMP1	OMIM:616579
HP:0001249	Intellectual disability	2348	FOLR1	OMIM:613068
HP:0001249	Intellectual disability	4867	NPHP1	ORPHA:220497
HP:0001249	Intellectual disability	4867	NPHP1	OMIM:266900
HP:0001249	Intellectual disability	4867	NPHP1	ORPHA:110
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:220497
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:2318
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:475
HP:0001249	Intellectual disability	27245	AHDC1	ORPHA:412069
HP:0001249	Intellectual disability	27245	AHDC1	OMIM:615829
HP:0001249	Intellectual disability	478	ATP1A3	OMIM:619606
HP:0001249	Intellectual disability	478	ATP1A3	ORPHA:442835
HP:0001249	Intellectual disability	478	ATP1A3	ORPHA:2131
HP:0001249	Intellectual disability	478	ATP1A3	OMIM:614820
HP:0001249	Intellectual disability	2137	EXTL3	OMIM:617425
HP:0001249	Intellectual disability	2137	EXTL3	ORPHA:508533
HP:0001249	Intellectual disability	54806	AHI1	ORPHA:220493
HP:0001249	Intellectual disability	54806	AHI1	ORPHA:791
HP:0001249	Intellectual disability	54806	AHI1	ORPHA:475
HP:0001249	Intellectual disability	54806	AHI1	OMIM:608629
HP:0001249	Intellectual disability	153241	CEP120	ORPHA:220493
HP:0001249	Intellectual disability	153241	CEP120	ORPHA:475
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:220493
HP:0001249	Intellectual disability	54903	MKS1	OMIM:615990
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:110
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:475
HP:0001249	Intellectual disability	54903	MKS1	OMIM:617121
HP:0001249	Intellectual disability	95681	CEP41	ORPHA:220493
HP:0001249	Intellectual disability	95681	CEP41	ORPHA:475
HP:0001249	Intellectual disability	95681	CEP41	OMIM:614464
HP:0001249	Intellectual disability	57589	RIC1	OMIM:618761
HP:0001249	Intellectual disability	317662	FAM149B1	OMIM:618763
HP:0001249	Intellectual disability	317662	FAM149B1	ORPHA:2754
HP:0001249	Intellectual disability	6844	VAMP2	OMIM:618760
HP:0001249	Intellectual disability	79029	AFG2B	OMIM:619616
HP:0001249	Intellectual disability	79029	AFG2B	OMIM:619615
HP:0001249	Intellectual disability	10111	RAD50	OMIM:613078
HP:0001249	Intellectual disability	7436	VLDLR	OMIM:224050
HP:0001249	Intellectual disability	7436	VLDLR	ORPHA:1766
HP:0001249	Intellectual disability	5191	PEX7	OMIM:215100
HP:0001249	Intellectual disability	5191	PEX7	OMIM:614879
HP:0001249	Intellectual disability	8659	ALDH4A1	OMIM:239510
HP:0001249	Intellectual disability	8659	ALDH4A1	ORPHA:79101
HP:0001249	Intellectual disability	2697	GJA1	ORPHA:2710
HP:0001249	Intellectual disability	2697	GJA1	ORPHA:317
HP:0001249	Intellectual disability	2697	GJA1	OMIM:164200
HP:0001249	Intellectual disability	2697	GJA1	OMIM:218400
HP:0001249	Intellectual disability	4313	MMP2	ORPHA:371428
HP:0001249	Intellectual disability	4323	MMP14	ORPHA:371428
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:113500
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:168400
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:184095
HP:0001249	Intellectual disability	5159	PDGFRB	OMIM:616592
HP:0001249	Intellectual disability	4330	MN1	OMIM:618774
HP:0001249	Intellectual disability	5833	PCYT2	OMIM:618770
HP:0001249	Intellectual disability	1280	COL2A1	ORPHA:90653
HP:0001249	Intellectual disability	1280	COL2A1	OMIM:184250
HP:0001249	Intellectual disability	1280	COL2A1	ORPHA:85198
HP:0001249	Intellectual disability	8036	SHOC2	ORPHA:2701
HP:0001249	Intellectual disability	8036	SHOC2	OMIM:607721
HP:0001249	Intellectual disability	5500	PPP1CB	ORPHA:2701
HP:0001249	Intellectual disability	3340	NDST1	OMIM:616116
HP:0001249	Intellectual disability	51761	ATP8A2	OMIM:615268
HP:0001249	Intellectual disability	51761	ATP8A2	ORPHA:1766
HP:0001249	Intellectual disability	89910	UBE3B	ORPHA:2707
HP:0001249	Intellectual disability	55131	RBM28	ORPHA:157954
HP:0001249	Intellectual disability	55131	RBM28	OMIM:612079
HP:0001249	Intellectual disability	9131	AIFM1	ORPHA:101078
HP:0001249	Intellectual disability	9131	AIFM1	ORPHA:83629
HP:0001249	Intellectual disability	9131	AIFM1	OMIM:300614
HP:0001249	Intellectual disability	9131	AIFM1	OMIM:310490
HP:0001249	Intellectual disability	1187	CLCNKA	OMIM:613090
HP:0001249	Intellectual disability	1188	CLCNKB	OMIM:613090
HP:0001249	Intellectual disability	5476	CTSA	ORPHA:351
HP:0001249	Intellectual disability	5476	CTSA	OMIM:256540
HP:0001249	Intellectual disability	8493	PPM1D	OMIM:617450
HP:0001249	Intellectual disability	23512	SUZ12	OMIM:618786
HP:0001249	Intellectual disability	23512	SUZ12	ORPHA:3447
HP:0001249	Intellectual disability	6905	TBCE	OMIM:241410
HP:0001249	Intellectual disability	6905	TBCE	ORPHA:2323
HP:0001249	Intellectual disability	6905	TBCE	OMIM:617207
HP:0001249	Intellectual disability	6905	TBCE	ORPHA:496756
HP:0001249	Intellectual disability	5604	MAP2K1	OMIM:615279
HP:0001249	Intellectual disability	5604	MAP2K1	ORPHA:1340
HP:0001249	Intellectual disability	5604	MAP2K1	OMIM:163950
HP:0001249	Intellectual disability	9289	ADGRG1	ORPHA:101070
HP:0001249	Intellectual disability	9289	ADGRG1	OMIM:606854
HP:0001249	Intellectual disability	9289	ADGRG1	ORPHA:98889
HP:0001249	Intellectual disability	9289	ADGRG1	OMIM:615752
HP:0001249	Intellectual disability	2203	FBP1	ORPHA:348
HP:0001249	Intellectual disability	1311	COMP	OMIM:177170
HP:0001249	Intellectual disability	79718	TBL1XR1	OMIM:602342
HP:0001249	Intellectual disability	79718	TBL1XR1	OMIM:616944
HP:0001249	Intellectual disability	79718	TBL1XR1	ORPHA:487825
HP:0001249	Intellectual disability	3766	KCNJ10	ORPHA:199343
HP:0001249	Intellectual disability	3766	KCNJ10	OMIM:274600
HP:0001249	Intellectual disability	3766	KCNJ10	ORPHA:705
HP:0001249	Intellectual disability	3766	KCNJ10	OMIM:612780
HP:0001249	Intellectual disability	6305	SBF1	OMIM:615284
HP:0001249	Intellectual disability	113179	ADAT3	OMIM:615286
HP:0001249	Intellectual disability	113179	ADAT3	ORPHA:363528
HP:0001249	Intellectual disability	1742	DLG4	OMIM:618793
HP:0001249	Intellectual disability	2904	GRIN2B	OMIM:616139
HP:0001249	Intellectual disability	2904	GRIN2B	OMIM:613970
HP:0001249	Intellectual disability	200424	TET3	OMIM:618798
HP:0001249	Intellectual disability	79971	WLS	OMIM:619648
HP:0001249	Intellectual disability	56652	TWNK	OMIM:271245
HP:0001249	Intellectual disability	57688	ZSWIM6	OMIM:603671
HP:0001249	Intellectual disability	57688	ZSWIM6	ORPHA:1827
HP:0001249	Intellectual disability	57688	ZSWIM6	OMIM:617865
HP:0001249	Intellectual disability	51567	TDP2	ORPHA:404493
HP:0001249	Intellectual disability	51567	TDP2	OMIM:616949
HP:0001249	Intellectual disability	57609	DIP2B	OMIM:136630
HP:0001249	Intellectual disability	6654	SOS1	OMIM:135300
HP:0001249	Intellectual disability	6654	SOS1	OMIM:610733
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:377
HP:0001249	Intellectual disability	5727	PTCH1	OMIM:109400
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:280195
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:220386
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:280200
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:77301
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93926
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93924
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93925
HP:0001249	Intellectual disability	8643	PTCH2	ORPHA:377
HP:0001249	Intellectual disability	23299	BICD2	OMIM:615290
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:601005
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:620029
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:618447
HP:0001249	Intellectual disability	2239	GPC4	ORPHA:373
HP:0001249	Intellectual disability	2239	GPC4	OMIM:301026
HP:0001249	Intellectual disability	2719	GPC3	ORPHA:373
HP:0001249	Intellectual disability	84168	ANTXR1	OMIM:230740
HP:0001249	Intellectual disability	25836	NIPBL	OMIM:122470
HP:0001249	Intellectual disability	25836	NIPBL	ORPHA:199
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79443
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79444
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79445
HP:0001249	Intellectual disability	2778	GNAS	OMIM:612463
HP:0001249	Intellectual disability	2778	GNAS	OMIM:612462
HP:0001249	Intellectual disability	2778	GNAS	OMIM:103580
HP:0001249	Intellectual disability	84100	ARL6	OMIM:600151
HP:0001249	Intellectual disability	84100	ARL6	ORPHA:791
HP:0001249	Intellectual disability	84100	ARL6	OMIM:209900
HP:0001249	Intellectual disability	84100	ARL6	ORPHA:110
HP:0001249	Intellectual disability	79648	MCPH1	OMIM:251200
HP:0001249	Intellectual disability	56246	MRAP	ORPHA:361
HP:0001249	Intellectual disability	6770	STAR	ORPHA:361
HP:0001249	Intellectual disability	4158	MC2R	ORPHA:361
HP:0001249	Intellectual disability	23530	NNT	ORPHA:361
HP:0001249	Intellectual disability	10587	TXNRD2	ORPHA:361
HP:0001249	Intellectual disability	5649	RELN	ORPHA:101046
HP:0001249	Intellectual disability	5649	RELN	ORPHA:89844
HP:0001249	Intellectual disability	9211	LGI1	ORPHA:101046
HP:0001249	Intellectual disability	1387	CREBBP	OMIM:618332
HP:0001249	Intellectual disability	1387	CREBBP	ORPHA:353281
HP:0001249	Intellectual disability	1387	CREBBP	ORPHA:353277
HP:0001249	Intellectual disability	1387	CREBBP	OMIM:180849
HP:0001249	Intellectual disability	1523	CUX1	OMIM:618330
HP:0001249	Intellectual disability	3000	GUCY2D	OMIM:204000
HP:0001249	Intellectual disability	3000	GUCY2D	ORPHA:65
HP:0001249	Intellectual disability	5813	PURA	OMIM:616158
HP:0001249	Intellectual disability	435	ASL	ORPHA:23
HP:0001249	Intellectual disability	435	ASL	OMIM:207900
HP:0001249	Intellectual disability	3480	IGF1R	ORPHA:73273
HP:0001249	Intellectual disability	3480	IGF1R	OMIM:270450
HP:0001249	Intellectual disability	7915	ALDH5A1	ORPHA:22
HP:0001249	Intellectual disability	7915	ALDH5A1	OMIM:271980
HP:0001249	Intellectual disability	92840	REEP6	ORPHA:791
HP:0001249	Intellectual disability	6094	ROM1	ORPHA:791
HP:0001249	Intellectual disability	6017	RLBP1	ORPHA:791
HP:0001249	Intellectual disability	7401	CLRN1	ORPHA:791
HP:0001249	Intellectual disability	24	ABCA4	ORPHA:791
HP:0001249	Intellectual disability	130557	ZNF513	ORPHA:791
HP:0001249	Intellectual disability	582	BBS1	ORPHA:791
HP:0001249	Intellectual disability	582	BBS1	OMIM:209900
HP:0001249	Intellectual disability	582	BBS1	ORPHA:110
HP:0001249	Intellectual disability	92211	CDHR1	ORPHA:791
HP:0001249	Intellectual disability	23568	ARL2BP	ORPHA:791
HP:0001249	Intellectual disability	6121	RPE65	ORPHA:791
HP:0001249	Intellectual disability	6121	RPE65	ORPHA:65
HP:0001249	Intellectual disability	6121	RPE65	OMIM:204100
HP:0001249	Intellectual disability	6101	RP1	ORPHA:791
HP:0001249	Intellectual disability	3419	IDH3A	ORPHA:791
HP:0001249	Intellectual disability	4751	NEK2	ORPHA:791
HP:0001249	Intellectual disability	346007	EYS	ORPHA:791
HP:0001249	Intellectual disability	8100	IFT88	ORPHA:791
HP:0001249	Intellectual disability	23020	SNRNP200	ORPHA:791
HP:0001249	Intellectual disability	762	CA4	ORPHA:791
HP:0001249	Intellectual disability	138050	HGSNAT	ORPHA:791
HP:0001249	Intellectual disability	138050	HGSNAT	OMIM:252930
HP:0001249	Intellectual disability	196	AHR	ORPHA:791
HP:0001249	Intellectual disability	3614	IMPDH1	ORPHA:791
HP:0001249	Intellectual disability	3614	IMPDH1	ORPHA:65
HP:0001249	Intellectual disability	123016	TTC8	ORPHA:791
HP:0001249	Intellectual disability	123016	TTC8	OMIM:615985
HP:0001249	Intellectual disability	123016	TTC8	ORPHA:110
HP:0001249	Intellectual disability	6103	RPGR	ORPHA:791
HP:0001249	Intellectual disability	1406	CRX	ORPHA:791
HP:0001249	Intellectual disability	1406	CRX	ORPHA:65
HP:0001249	Intellectual disability	5148	PDE6G	ORPHA:791
HP:0001249	Intellectual disability	26121	PRPF31	ORPHA:791
HP:0001249	Intellectual disability	583	BBS2	ORPHA:791
HP:0001249	Intellectual disability	583	BBS2	OMIM:615981
HP:0001249	Intellectual disability	583	BBS2	ORPHA:110
HP:0001249	Intellectual disability	4117	MAK	ORPHA:791
HP:0001249	Intellectual disability	25794	FSCN2	ORPHA:791
HP:0001249	Intellectual disability	375298	CERKL	ORPHA:791
HP:0001249	Intellectual disability	3420	IDH3B	ORPHA:791
HP:0001249	Intellectual disability	57670	KIAA1549	ORPHA:791
HP:0001249	Intellectual disability	7275	TUB	ORPHA:791
HP:0001249	Intellectual disability	24148	PRPF6	ORPHA:791
HP:0001249	Intellectual disability	23418	CRB1	ORPHA:791
HP:0001249	Intellectual disability	23418	CRB1	ORPHA:65
HP:0001249	Intellectual disability	10461	MERTK	ORPHA:791
HP:0001249	Intellectual disability	57709	SLC7A14	ORPHA:791
HP:0001249	Intellectual disability	768206	PRCD	ORPHA:791
HP:0001249	Intellectual disability	7399	USH2A	ORPHA:791
HP:0001249	Intellectual disability	23370	ARHGEF18	ORPHA:791
HP:0001249	Intellectual disability	5949	RBP3	ORPHA:791
HP:0001249	Intellectual disability	6010	RHO	ORPHA:791
HP:0001249	Intellectual disability	6100	RP9	ORPHA:791
HP:0001249	Intellectual disability	10002	NR2E3	ORPHA:791
HP:0001249	Intellectual disability	9227	LRAT	ORPHA:791
HP:0001249	Intellectual disability	9227	LRAT	ORPHA:65
HP:0001249	Intellectual disability	84140	FAM161A	ORPHA:791
HP:0001249	Intellectual disability	55812	SPATA7	ORPHA:791
HP:0001249	Intellectual disability	55812	SPATA7	ORPHA:65
HP:0001249	Intellectual disability	403	ARL3	ORPHA:791
HP:0001249	Intellectual disability	403	ARL3	ORPHA:475
HP:0001249	Intellectual disability	5145	PDE6A	ORPHA:791
HP:0001249	Intellectual disability	10210	TOPORS	ORPHA:791
HP:0001249	Intellectual disability	10210	TOPORS	ORPHA:2754
HP:0001249	Intellectual disability	8842	PROM1	ORPHA:791
HP:0001249	Intellectual disability	9128	PRPF4	ORPHA:791
HP:0001249	Intellectual disability	145226	RDH12	ORPHA:791
HP:0001249	Intellectual disability	145226	RDH12	ORPHA:65
HP:0001249	Intellectual disability	50939	IMPG2	ORPHA:791
HP:0001249	Intellectual disability	49855	SCAPER	ORPHA:791
HP:0001249	Intellectual disability	49855	SCAPER	OMIM:618195
HP:0001249	Intellectual disability	49855	SCAPER	ORPHA:110
HP:0001249	Intellectual disability	2979	GUCA1B	ORPHA:791
HP:0001249	Intellectual disability	1259	CNGA1	ORPHA:791
HP:0001249	Intellectual disability	1258	CNGB1	ORPHA:791
HP:0001249	Intellectual disability	60509	AGBL5	ORPHA:791
HP:0001249	Intellectual disability	5961	PRPH2	ORPHA:791
HP:0001249	Intellectual disability	388939	PCARE	ORPHA:791
HP:0001249	Intellectual disability	7439	BEST1	ORPHA:791
HP:0001249	Intellectual disability	9785	DHX38	ORPHA:791
HP:0001249	Intellectual disability	7287	TULP1	ORPHA:791
HP:0001249	Intellectual disability	7287	TULP1	ORPHA:65
HP:0001249	Intellectual disability	5995	RGR	ORPHA:791
HP:0001249	Intellectual disability	9129	PRPF3	ORPHA:791
HP:0001249	Intellectual disability	55975	KLHL7	ORPHA:791
HP:0001249	Intellectual disability	55975	KLHL7	OMIM:617055
HP:0001249	Intellectual disability	3617	IMPG1	ORPHA:791
HP:0001249	Intellectual disability	94137	RP1L1	ORPHA:791
HP:0001249	Intellectual disability	5158	PDE6B	ORPHA:791
HP:0001249	Intellectual disability	6102	RP2	ORPHA:791
HP:0001249	Intellectual disability	55857	KIZ	ORPHA:791
HP:0001249	Intellectual disability	64218	SEMA4A	ORPHA:791
HP:0001249	Intellectual disability	4901	NRL	ORPHA:791
HP:0001249	Intellectual disability	157657	CFAP418	ORPHA:791
HP:0001249	Intellectual disability	157657	CFAP418	ORPHA:110
HP:0001249	Intellectual disability	10594	PRPF8	ORPHA:791
HP:0001249	Intellectual disability	6295	SAG	ORPHA:791
HP:0001249	Intellectual disability	79947	DHDDS	ORPHA:791
HP:0001249	Intellectual disability	79947	DHDDS	OMIM:617836
HP:0001249	Intellectual disability	79947	DHDDS	ORPHA:442835
HP:0001249	Intellectual disability	6448	SGSH	OMIM:252900
HP:0001249	Intellectual disability	8925	HERC1	OMIM:617011
HP:0001249	Intellectual disability	4598	MVK	ORPHA:29
HP:0001249	Intellectual disability	23516	SLC39A14	OMIM:617013
HP:0001249	Intellectual disability	23516	SLC39A14	ORPHA:521406
HP:0001249	Intellectual disability	54517	PUS7	OMIM:618342
HP:0001249	Intellectual disability	10564	ARFGEF2	OMIM:608097
HP:0001249	Intellectual disability	10785	WDR4	OMIM:618347
HP:0001249	Intellectual disability	57122	NUP107	OMIM:618348
HP:0001249	Intellectual disability	51259	TMEM216	OMIM:608091
HP:0001249	Intellectual disability	51259	TMEM216	ORPHA:2318
HP:0001249	Intellectual disability	51259	TMEM216	ORPHA:2754
HP:0001249	Intellectual disability	114327	EFHC1	ORPHA:307
HP:0001249	Intellectual disability	114327	EFHC1	OMIM:254770
HP:0001249	Intellectual disability	2563	GABRD	ORPHA:307
HP:0001249	Intellectual disability	2563	GABRD	ORPHA:1606
HP:0001249	Intellectual disability	1181	CLCN2	ORPHA:307
HP:0001249	Intellectual disability	2554	GABRA1	ORPHA:307
HP:0001249	Intellectual disability	2554	GABRA1	ORPHA:64280
HP:0001249	Intellectual disability	2554	GABRA1	OMIM:615744
HP:0001249	Intellectual disability	3786	KCNQ3	ORPHA:307
HP:0001249	Intellectual disability	22858	CILK1	ORPHA:307
HP:0001249	Intellectual disability	8629	JRK	ORPHA:307
HP:0001249	Intellectual disability	8629	JRK	ORPHA:64280
HP:0001249	Intellectual disability	785	CACNB4	ORPHA:307
HP:0001249	Intellectual disability	785	CACNB4	OMIM:607682
HP:0001249	Intellectual disability	144165	PRICKLE1	ORPHA:308
HP:0001249	Intellectual disability	950	SCARB2	ORPHA:308
HP:0001249	Intellectual disability	7038	TG	OMIM:274700
HP:0001249	Intellectual disability	7038	TG	ORPHA:95716
HP:0001249	Intellectual disability	7681	MKRN3	OMIM:176270
HP:0001249	Intellectual disability	3653	IPW	OMIM:176270
HP:0001249	Intellectual disability	791114	PWRN1	OMIM:176270
HP:0001249	Intellectual disability	100033413	SNORD116-1	OMIM:176270
HP:0001249	Intellectual disability	8924	HERC2	OMIM:176270
HP:0001249	Intellectual disability	8924	HERC2	OMIM:615516
HP:0001249	Intellectual disability	145624	PWAR1	OMIM:176270
HP:0001249	Intellectual disability	23742	NPAP1	OMIM:176270
HP:0001249	Intellectual disability	338433	SNORD115-1	OMIM:176270
HP:0001249	Intellectual disability	5095	PCCA	ORPHA:35
HP:0001249	Intellectual disability	5096	PCCB	ORPHA:35
HP:0001249	Intellectual disability	27125	AFF4	ORPHA:444077
HP:0001249	Intellectual disability	27125	AFF4	OMIM:616368
HP:0001249	Intellectual disability	10733	PLK4	OMIM:616171
HP:0001249	Intellectual disability	10733	PLK4	ORPHA:808
HP:0001249	Intellectual disability	10733	PLK4	ORPHA:2518
HP:0001249	Intellectual disability	5610	EIF2AK2	OMIM:619687
HP:0001249	Intellectual disability	55182	RNF220	OMIM:619688
HP:0001249	Intellectual disability	116461	TSEN15	OMIM:617026
HP:0001249	Intellectual disability	55262	TRAPPC14	OMIM:618351
HP:0001249	Intellectual disability	23043	TNIK	OMIM:617028
HP:0001249	Intellectual disability	6492	SIM1	ORPHA:398079
HP:0001249	Intellectual disability	51114	ZDHHC9	ORPHA:776
HP:0001249	Intellectual disability	51114	ZDHHC9	OMIM:300799
HP:0001249	Intellectual disability	3767	KCNJ11	ORPHA:99885
HP:0001249	Intellectual disability	3767	KCNJ11	ORPHA:79644
HP:0001249	Intellectual disability	6774	STAT3	ORPHA:99885
HP:0001249	Intellectual disability	2645	GCK	ORPHA:99885
HP:0001249	Intellectual disability	2645	GCK	OMIM:602485
HP:0001249	Intellectual disability	3651	PDX1	ORPHA:99885
HP:0001249	Intellectual disability	6833	ABCC8	ORPHA:99885
HP:0001249	Intellectual disability	6833	ABCC8	OMIM:256450
HP:0001249	Intellectual disability	6833	ABCC8	OMIM:240800
HP:0001249	Intellectual disability	3630	INS	ORPHA:99885
HP:0001249	Intellectual disability	154881	KCTD7	OMIM:611726
HP:0001249	Intellectual disability	154881	KCTD7	ORPHA:263516
HP:0001249	Intellectual disability	427	ASAH1	ORPHA:333
HP:0001249	Intellectual disability	427	ASAH1	ORPHA:2590
HP:0001249	Intellectual disability	427	ASAH1	OMIM:228000
HP:0001249	Intellectual disability	57190	SELENON	OMIM:602771
HP:0001249	Intellectual disability	473	RERE	ORPHA:494344
HP:0001249	Intellectual disability	473	RERE	ORPHA:1606
HP:0001249	Intellectual disability	55777	MBD5	OMIM:156200
HP:0001249	Intellectual disability	22930	RAB3GAP1	OMIM:600118
HP:0001249	Intellectual disability	22930	RAB3GAP1	ORPHA:1387
HP:0001249	Intellectual disability	2334	AFF2	OMIM:309548
HP:0001249	Intellectual disability	2334	AFF2	ORPHA:100973
HP:0001249	Intellectual disability	7468	NSD2	OMIM:619695
HP:0001249	Intellectual disability	3054	HCFC1	OMIM:309541
HP:0001249	Intellectual disability	2632	GBE1	ORPHA:206583
HP:0001249	Intellectual disability	5805	PTS	ORPHA:13
HP:0001249	Intellectual disability	7703	PCGF2	OMIM:618371
HP:0001249	Intellectual disability	56776	FMN2	OMIM:616193
HP:0001249	Intellectual disability	2743	GLRB	ORPHA:3197
HP:0001249	Intellectual disability	2743	GLRB	OMIM:614619
HP:0001249	Intellectual disability	2741	GLRA1	ORPHA:3197
HP:0001249	Intellectual disability	10243	GPHN	ORPHA:3197
HP:0001249	Intellectual disability	84896	ATAD1	ORPHA:3197
HP:0001249	Intellectual disability	9152	SLC6A5	ORPHA:3197
HP:0001249	Intellectual disability	8802	SUCLG1	ORPHA:17
HP:0001249	Intellectual disability	6304	SATB1	OMIM:619228
HP:0001249	Intellectual disability	6304	SATB1	OMIM:619229
HP:0001249	Intellectual disability	2707	GJB3	ORPHA:317
HP:0001249	Intellectual disability	2531	KDSR	ORPHA:317
HP:0001249	Intellectual disability	127534	GJB4	ORPHA:317
HP:0001249	Intellectual disability	50801	KCNK4	OMIM:618381
HP:0001249	Intellectual disability	80036	TRPM3	OMIM:620224
HP:0001249	Intellectual disability	5184	PEPD	ORPHA:742
HP:0001249	Intellectual disability	9829	DNAJC6	ORPHA:391411
HP:0001249	Intellectual disability	9829	DNAJC6	OMIM:615528
HP:0001249	Intellectual disability	5420	PODXL	ORPHA:391411
HP:0001249	Intellectual disability	51360	MBTPS2	OMIM:308205
HP:0001249	Intellectual disability	51360	MBTPS2	ORPHA:2273
HP:0001249	Intellectual disability	1457	CSNK2A1	OMIM:617062
HP:0001249	Intellectual disability	203068	TUBB	OMIM:156610
HP:0001249	Intellectual disability	203068	TUBB	ORPHA:2505
HP:0001249	Intellectual disability	23112	TNRC6B	OMIM:619243
HP:0001249	Intellectual disability	91875	TTC5	OMIM:619244
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:280195
HP:0001249	Intellectual disability	28514	DLL1	OMIM:618709
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:220386
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:280200
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93926
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93924
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93925
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:280195
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:220386
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:280200
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93926
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93924
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93925
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:280195
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:220386
HP:0001249	Intellectual disability	6496	SIX3	OMIM:157170
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:280200
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93926
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93924
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93925
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:280195
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:220386
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:280200
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93926
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93924
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93925
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:280195
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:220386
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:280200
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93926
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93924
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93925
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:280195
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:220386
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:280200
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93926
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93924
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93925
HP:0001249	Intellectual disability	7546	ZIC2	OMIM:609637
HP:0001249	Intellectual disability	6491	STIL	ORPHA:280195
HP:0001249	Intellectual disability	6491	STIL	ORPHA:220386
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93926
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93924
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93925
HP:0001249	Intellectual disability	6491	STIL	OMIM:612703
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:280195
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:220386
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:280200
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93926
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93924
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93925
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:280195
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:220386
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:280200
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93926
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93924
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93925
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:280195
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:220386
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:280200
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93926
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93924
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93925
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:280195
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:220386
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:280200
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93926
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93924
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93925
HP:0001249	Intellectual disability	50937	CDON	ORPHA:280195
HP:0001249	Intellectual disability	50937	CDON	ORPHA:95496
HP:0001249	Intellectual disability	50937	CDON	ORPHA:220386
HP:0001249	Intellectual disability	50937	CDON	ORPHA:280200
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93926
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93924
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93925
HP:0001249	Intellectual disability	3028	HSD17B10	ORPHA:85295
HP:0001249	Intellectual disability	3028	HSD17B10	OMIM:300438
HP:0001249	Intellectual disability	23096	IQSEC2	OMIM:309530
HP:0001249	Intellectual disability	23096	IQSEC2	ORPHA:819
HP:0001249	Intellectual disability	23096	IQSEC2	ORPHA:217377
HP:0001249	Intellectual disability	5625	PRODH	OMIM:239500
HP:0001249	Intellectual disability	93587	TRMT10A	ORPHA:391408
HP:0001249	Intellectual disability	93587	TRMT10A	OMIM:616033
HP:0001249	Intellectual disability	84919	PPP1R15B	ORPHA:391408
HP:0001249	Intellectual disability	84919	PPP1R15B	OMIM:616817
HP:0001249	Intellectual disability	2799	GNS	OMIM:252940
HP:0001249	Intellectual disability	7169	TPM2	OMIM:108120
HP:0001249	Intellectual disability	201595	STT3B	ORPHA:370924
HP:0001249	Intellectual disability	201595	STT3B	OMIM:615597
HP:0001249	Intellectual disability	6748	SSR4	ORPHA:370927
HP:0001249	Intellectual disability	6748	SSR4	OMIM:300934
HP:0001249	Intellectual disability	340533	NEXMIF	ORPHA:85277
HP:0001249	Intellectual disability	340533	NEXMIF	ORPHA:1942
HP:0001249	Intellectual disability	340533	NEXMIF	OMIM:300912
HP:0001249	Intellectual disability	54187	NANS	OMIM:610442
HP:0001249	Intellectual disability	1282	COL4A1	OMIM:611773
HP:0001249	Intellectual disability	1282	COL4A1	OMIM:175780
HP:0001249	Intellectual disability	1282	COL4A1	ORPHA:899
HP:0001249	Intellectual disability	3643	INSR	ORPHA:769
HP:0001249	Intellectual disability	3643	INSR	ORPHA:508
HP:0001249	Intellectual disability	7474	WNT5A	OMIM:180700
HP:0001249	Intellectual disability	7474	WNT5A	ORPHA:3107
HP:0001249	Intellectual disability	1855	DVL1	OMIM:180700
HP:0001249	Intellectual disability	1855	DVL1	ORPHA:3107
HP:0001249	Intellectual disability	124093	CCDC78	OMIM:614807
HP:0001249	Intellectual disability	4860	PNP	ORPHA:760
HP:0001249	Intellectual disability	4860	PNP	OMIM:613179
HP:0001249	Intellectual disability	162	AP1B1	ORPHA:171851
HP:0001249	Intellectual disability	162	AP1B1	OMIM:242150
HP:0001249	Intellectual disability	1174	AP1S1	ORPHA:171851
HP:0001249	Intellectual disability	1174	AP1S1	OMIM:609313
HP:0001249	Intellectual disability	26123	TCTN3	OMIM:614815
HP:0001249	Intellectual disability	26123	TCTN3	ORPHA:2753
HP:0001249	Intellectual disability	26123	TCTN3	ORPHA:2754
HP:0001249	Intellectual disability	1373	CPS1	OMIM:237300
HP:0001249	Intellectual disability	4669	NAGLU	OMIM:252920
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:3157
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:2396
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:220386
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:280200
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:190440
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:93924
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:147950
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:101600
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:2645
HP:0001249	Intellectual disability	128674	PROKR2	ORPHA:3157
HP:0001249	Intellectual disability	128674	PROKR2	ORPHA:95496
HP:0001249	Intellectual disability	6657	SOX2	ORPHA:3157
HP:0001249	Intellectual disability	6657	SOX2	ORPHA:77298
HP:0001249	Intellectual disability	9915	ARNT2	ORPHA:3157
HP:0001249	Intellectual disability	8820	HESX1	ORPHA:3157
HP:0001249	Intellectual disability	8820	HESX1	ORPHA:95496
HP:0001249	Intellectual disability	5015	OTX2	ORPHA:3157
HP:0001249	Intellectual disability	374654	KIF7	ORPHA:166024
HP:0001249	Intellectual disability	374654	KIF7	ORPHA:2754
HP:0001249	Intellectual disability	374654	KIF7	OMIM:200990
HP:0001249	Intellectual disability	128	ADH5	OMIM:619151
HP:0001249	Intellectual disability	64374	SIL1	OMIM:248800
HP:0001249	Intellectual disability	64374	SIL1	ORPHA:559
HP:0001249	Intellectual disability	6535	SLC6A8	OMIM:300352
HP:0001249	Intellectual disability	6535	SLC6A8	ORPHA:52503
HP:0001249	Intellectual disability	26128	KIFBP	OMIM:609460
HP:0001249	Intellectual disability	26128	KIFBP	ORPHA:66629
HP:0001249	Intellectual disability	1593	CYP27A1	OMIM:213700
HP:0001249	Intellectual disability	1593	CYP27A1	ORPHA:909
HP:0001249	Intellectual disability	7518	XRCC4	ORPHA:99812
HP:0001249	Intellectual disability	3981	LIG4	ORPHA:99812
HP:0001249	Intellectual disability	3981	LIG4	ORPHA:235
HP:0001249	Intellectual disability	55775	TDP1	ORPHA:94124
HP:0001249	Intellectual disability	55775	TDP1	OMIM:607250
HP:0001249	Intellectual disability	80144	FRAS1	OMIM:219000
HP:0001249	Intellectual disability	80144	FRAS1	ORPHA:2052
HP:0001249	Intellectual disability	613	BCR	ORPHA:261330
HP:0001249	Intellectual disability	1399	CRKL	ORPHA:261330
HP:0001249	Intellectual disability	5594	MAPK1	ORPHA:261330
HP:0001249	Intellectual disability	5594	MAPK1	OMIM:619087
HP:0001249	Intellectual disability	9640	ZNF592	ORPHA:83472
HP:0001249	Intellectual disability	84942	WDR73	ORPHA:83472
HP:0001249	Intellectual disability	84942	WDR73	OMIM:251300
HP:0001249	Intellectual disability	224	ALDH3A2	ORPHA:816
HP:0001249	Intellectual disability	224	ALDH3A2	OMIM:270200
HP:0001249	Intellectual disability	2314	FLII	ORPHA:819
HP:0001249	Intellectual disability	10522	DEAF1	ORPHA:819
HP:0001249	Intellectual disability	10522	DEAF1	OMIM:615828
HP:0001249	Intellectual disability	10522	DEAF1	ORPHA:468620
HP:0001249	Intellectual disability	10522	DEAF1	OMIM:617171
HP:0001249	Intellectual disability	1717	DHCR7	ORPHA:818
HP:0001249	Intellectual disability	1717	DHCR7	OMIM:270400
HP:0001249	Intellectual disability	5818	NECTIN1	ORPHA:3253
HP:0001249	Intellectual disability	4758	NEU1	ORPHA:812
HP:0001249	Intellectual disability	4758	NEU1	OMIM:256550
HP:0001249	Intellectual disability	150468	CKAP2L	ORPHA:3255
HP:0001249	Intellectual disability	150468	CKAP2L	OMIM:272440
HP:0001249	Intellectual disability	429	ASCL1	ORPHA:99803
HP:0001249	Intellectual disability	8929	PHOX2B	ORPHA:99803
HP:0001249	Intellectual disability	79631	EFL1	ORPHA:811
HP:0001249	Intellectual disability	2313	FLI1	ORPHA:851
HP:0001249	Intellectual disability	2313	FLI1	ORPHA:2308
HP:0001249	Intellectual disability	56992	KIF15	ORPHA:261323
HP:0001249	Intellectual disability	2483	FRG1	OMIM:158900
HP:0001249	Intellectual disability	55157	DARS2	ORPHA:137898
HP:0001249	Intellectual disability	1801	DPH1	OMIM:616901
HP:0001249	Intellectual disability	412	STS	ORPHA:281090
HP:0001249	Intellectual disability	412	STS	OMIM:308100
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:2396
HP:0001249	Intellectual disability	3845	KRAS	OMIM:163200
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:2612
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:1340
HP:0001249	Intellectual disability	5080	PAX6	ORPHA:1065
HP:0001249	Intellectual disability	5080	PAX6	OMIM:194072
HP:0001249	Intellectual disability	5080	PAX6	ORPHA:893
HP:0001249	Intellectual disability	80254	CEP63	OMIM:614728
HP:0001249	Intellectual disability	64087	MCCC2	OMIM:210210
HP:0001249	Intellectual disability	672	BRCA1	ORPHA:84
HP:0001249	Intellectual disability	672	BRCA1	OMIM:617883
HP:0001249	Intellectual disability	10459	MAD2L2	ORPHA:84
HP:0001249	Intellectual disability	7516	XRCC2	ORPHA:84
HP:0001249	Intellectual disability	29089	UBE2T	ORPHA:84
HP:0001249	Intellectual disability	675	BRCA2	ORPHA:84
HP:0001249	Intellectual disability	55120	FANCL	ORPHA:84
HP:0001249	Intellectual disability	2177	FANCD2	ORPHA:84
HP:0001249	Intellectual disability	2177	FANCD2	OMIM:227646
HP:0001249	Intellectual disability	2175	FANCA	ORPHA:84
HP:0001249	Intellectual disability	2175	FANCA	OMIM:227650
HP:0001249	Intellectual disability	2187	FANCB	ORPHA:84
HP:0001249	Intellectual disability	2187	FANCB	OMIM:300514
HP:0001249	Intellectual disability	2187	FANCB	ORPHA:3412
HP:0001249	Intellectual disability	2176	FANCC	ORPHA:84
HP:0001249	Intellectual disability	2176	FANCC	OMIM:227645
HP:0001249	Intellectual disability	2178	FANCE	ORPHA:84
HP:0001249	Intellectual disability	2178	FANCE	OMIM:600901
HP:0001249	Intellectual disability	2188	FANCF	ORPHA:84
HP:0001249	Intellectual disability	2189	FANCG	ORPHA:84
HP:0001249	Intellectual disability	5889	RAD51C	ORPHA:84
HP:0001249	Intellectual disability	55159	RFWD3	ORPHA:84
HP:0001249	Intellectual disability	83990	BRIP1	ORPHA:84
HP:0001249	Intellectual disability	57697	FANCM	ORPHA:84
HP:0001249	Intellectual disability	79728	PALB2	ORPHA:84
HP:0001249	Intellectual disability	84464	SLX4	ORPHA:84
HP:0001249	Intellectual disability	55215	FANCI	ORPHA:84
HP:0001249	Intellectual disability	546	ATRX	ORPHA:847
HP:0001249	Intellectual disability	546	ATRX	OMIM:301040
HP:0001249	Intellectual disability	10555	AGPAT2	OMIM:608594
HP:0001249	Intellectual disability	10555	AGPAT2	ORPHA:528
HP:0001249	Intellectual disability	222663	SCUBE3	OMIM:619184
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:97
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:2382
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:442835
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:569
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:2131
HP:0001249	Intellectual disability	773	CACNA1A	OMIM:617106
HP:0001249	Intellectual disability	9184	BUB3	ORPHA:1052
HP:0001249	Intellectual disability	699	BUB1	ORPHA:1052
HP:0001249	Intellectual disability	699	BUB1	OMIM:620183
HP:0001249	Intellectual disability	9319	TRIP13	ORPHA:1052
HP:0001249	Intellectual disability	1759	DNM1	ORPHA:2382
HP:0001249	Intellectual disability	1759	DNM1	ORPHA:442835
HP:0001249	Intellectual disability	1759	DNM1	OMIM:616346
HP:0001249	Intellectual disability	2562	GABRB3	ORPHA:2382
HP:0001249	Intellectual disability	2562	GABRB3	ORPHA:64280
HP:0001249	Intellectual disability	2562	GABRB3	OMIM:617113
HP:0001249	Intellectual disability	5602	MAPK10	ORPHA:2382
HP:0001249	Intellectual disability	23316	CUX2	ORPHA:2382
HP:0001249	Intellectual disability	23316	CUX2	OMIM:618141
HP:0001249	Intellectual disability	1106	CHD2	ORPHA:2382
HP:0001249	Intellectual disability	1106	CHD2	ORPHA:1942
HP:0001249	Intellectual disability	1106	CHD2	OMIM:615369
HP:0001249	Intellectual disability	23036	ZNF292	OMIM:619188
HP:0001249	Intellectual disability	55148	UBR7	OMIM:619189
HP:0001249	Intellectual disability	84342	COG8	ORPHA:95428
HP:0001249	Intellectual disability	84342	COG8	OMIM:611182
HP:0001249	Intellectual disability	4915	NTRK2	OMIM:613886
HP:0001249	Intellectual disability	4915	NTRK2	ORPHA:442835
HP:0001249	Intellectual disability	56922	MCCC1	OMIM:210200
HP:0001249	Intellectual disability	3070	HELLS	OMIM:616911
HP:0001249	Intellectual disability	3070	HELLS	ORPHA:2268
HP:0001249	Intellectual disability	11160	ERLIN2	OMIM:611225
HP:0001249	Intellectual disability	11160	ERLIN2	ORPHA:209951
HP:0001249	Intellectual disability	83879	CDCA7	OMIM:616910
HP:0001249	Intellectual disability	83879	CDCA7	ORPHA:2268
HP:0001249	Intellectual disability	175	AGA	ORPHA:93
HP:0001249	Intellectual disability	175	AGA	OMIM:208400
HP:0001249	Intellectual disability	84947	SERAC1	OMIM:614739
HP:0001249	Intellectual disability	9653	HS2ST1	OMIM:619194
HP:0001249	Intellectual disability	3769	KCNJ13	ORPHA:65
HP:0001249	Intellectual disability	343035	RD3	ORPHA:65
HP:0001249	Intellectual disability	64802	NMNAT1	ORPHA:65
HP:0001249	Intellectual disability	57096	RPGRIP1	ORPHA:65
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:65
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:2318
HP:0001249	Intellectual disability	80184	CEP290	OMIM:615991
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:110
HP:0001249	Intellectual disability	80184	CEP290	OMIM:610188
HP:0001249	Intellectual disability	10383	TUBB4B	ORPHA:65
HP:0001249	Intellectual disability	85015	USP45	ORPHA:65
HP:0001249	Intellectual disability	5130	PCYT1A	ORPHA:65
HP:0001249	Intellectual disability	5130	PCYT1A	ORPHA:85167
HP:0001249	Intellectual disability	9657	IQCB1	ORPHA:65
HP:0001249	Intellectual disability	392255	GDF6	ORPHA:65
HP:0001249	Intellectual disability	23746	AIPL1	ORPHA:65
HP:0001249	Intellectual disability	167691	LCA5	ORPHA:65
HP:0001249	Intellectual disability	7025	NR2F1	ORPHA:401777
HP:0001249	Intellectual disability	7025	NR2F1	OMIM:615722
HP:0001249	Intellectual disability	64327	LMBR1	ORPHA:2378
HP:0001249	Intellectual disability	10846	PDE10A	OMIM:616922
HP:0001249	Intellectual disability	5189	PEX1	ORPHA:3220
HP:0001249	Intellectual disability	5189	PEX1	OMIM:234580
HP:0001249	Intellectual disability	5190	PEX6	ORPHA:3220
HP:0001249	Intellectual disability	5190	PEX6	OMIM:614863
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:319332
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:88644
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:98853
HP:0001249	Intellectual disability	89884	LHX4	ORPHA:95496
HP:0001249	Intellectual disability	6091	ROBO1	ORPHA:95496
HP:0001249	Intellectual disability	23432	GPR161	ORPHA:95496
HP:0001249	Intellectual disability	79759	ZNF668	OMIM:620194
HP:0001249	Intellectual disability	23503	ZFYVE26	OMIM:270700
HP:0001249	Intellectual disability	23503	ZFYVE26	ORPHA:100996
HP:0001249	Intellectual disability	283209	PGM2L1	OMIM:620191
HP:0001249	Intellectual disability	8050	PDHX	OMIM:245349
HP:0001249	Intellectual disability	477	ATP1A2	OMIM:104290
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:442835
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:569
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:2131
HP:0001249	Intellectual disability	477	ATP1A2	OMIM:602481
HP:0001249	Intellectual disability	6473	SHOX	OMIM:249700
HP:0001249	Intellectual disability	23522	KAT6B	ORPHA:85201
HP:0001249	Intellectual disability	23522	KAT6B	ORPHA:3047
HP:0001249	Intellectual disability	54112	GPR88	OMIM:616939
HP:0001249	Intellectual disability	158	ADSL	ORPHA:46
HP:0001249	Intellectual disability	158	ADSL	OMIM:103050
HP:0001249	Intellectual disability	9101	USP8	ORPHA:401795
HP:0001249	Intellectual disability	1013	CDH15	OMIM:612580
HP:0001249	Intellectual disability	6949	TCOF1	OMIM:154500
HP:0001249	Intellectual disability	3458	IFNG	ORPHA:805
HP:0001249	Intellectual disability	3458	IFNG	OMIM:613254
HP:0001249	Intellectual disability	7248	TSC1	ORPHA:805
HP:0001249	Intellectual disability	7248	TSC1	OMIM:191100
HP:0001249	Intellectual disability	7248	TSC1	OMIM:607341
HP:0001249	Intellectual disability	7249	TSC2	ORPHA:805
HP:0001249	Intellectual disability	7249	TSC2	OMIM:613254
HP:0001249	Intellectual disability	7249	TSC2	OMIM:607341
HP:0001249	Intellectual disability	81887	LAS1L	OMIM:309585
HP:0001249	Intellectual disability	81887	LAS1L	ORPHA:3459
HP:0001249	Intellectual disability	545	ATR	ORPHA:808
HP:0001249	Intellectual disability	545	ATR	OMIM:210600
HP:0001249	Intellectual disability	1062	CENPE	ORPHA:808
HP:0001249	Intellectual disability	5116	PCNT	ORPHA:808
HP:0001249	Intellectual disability	5116	PCNT	OMIM:210720
HP:0001249	Intellectual disability	5116	PCNT	ORPHA:2637
HP:0001249	Intellectual disability	5932	RBBP8	ORPHA:808
HP:0001249	Intellectual disability	5932	RBBP8	OMIM:251255
HP:0001249	Intellectual disability	79902	NUP85	ORPHA:808
HP:0001249	Intellectual disability	84126	ATRIP	ORPHA:808
HP:0001249	Intellectual disability	10293	TRAIP	ORPHA:808
HP:0001249	Intellectual disability	22995	CEP152	ORPHA:808
HP:0001249	Intellectual disability	22995	CEP152	OMIM:613823
HP:0001249	Intellectual disability	5663	PSEN1	ORPHA:1020
HP:0001249	Intellectual disability	5664	PSEN2	ORPHA:1020
HP:0001249	Intellectual disability	10452	TOMM40	ORPHA:1020
HP:0001249	Intellectual disability	351	APP	ORPHA:1020
HP:0001249	Intellectual disability	351	APP	ORPHA:324703
HP:0001249	Intellectual disability	54209	TREM2	ORPHA:1020
HP:0001249	Intellectual disability	10347	ABCA7	ORPHA:1020
HP:0001249	Intellectual disability	6653	SORL1	ORPHA:1020
HP:0001249	Intellectual disability	200403	VWA3B	OMIM:616948
HP:0001249	Intellectual disability	147372	CCBE1	OMIM:235510
HP:0001249	Intellectual disability	147372	CCBE1	ORPHA:2136
HP:0001249	Intellectual disability	6509	SLC1A4	ORPHA:447997
HP:0001249	Intellectual disability	6509	SLC1A4	OMIM:616657
HP:0001249	Intellectual disability	3339	HSPG2	ORPHA:800
HP:0001249	Intellectual disability	3339	HSPG2	ORPHA:1606
HP:0001249	Intellectual disability	3339	HSPG2	OMIM:255800
HP:0001249	Intellectual disability	2776	GNAQ	ORPHA:3205
HP:0001249	Intellectual disability	2776	GNAQ	ORPHA:624
HP:0001249	Intellectual disability	2776	GNAQ	OMIM:185300
HP:0001249	Intellectual disability	226	ALDOA	ORPHA:57
HP:0001249	Intellectual disability	226	ALDOA	OMIM:611881
HP:0001249	Intellectual disability	22907	DHX30	OMIM:617804
HP:0001249	Intellectual disability	9894	TELO2	OMIM:616954
HP:0001249	Intellectual disability	57724	EPG5	ORPHA:1493
HP:0001249	Intellectual disability	9230	RAB11B	OMIM:617807
HP:0001249	Intellectual disability	10075	HUWE1	OMIM:309590
HP:0001249	Intellectual disability	22856	CHSY1	ORPHA:363417
HP:0001249	Intellectual disability	79848	CSPP1	OMIM:615636
HP:0001249	Intellectual disability	79848	CSPP1	ORPHA:475
HP:0001249	Intellectual disability	9759	HDAC4	ORPHA:1001
HP:0001249	Intellectual disability	9759	HDAC4	OMIM:600430
HP:0001249	Intellectual disability	11133	KPTN	OMIM:615637
HP:0001249	Intellectual disability	11133	KPTN	ORPHA:397612
HP:0001249	Intellectual disability	8092	ALX1	OMIM:613456
HP:0001249	Intellectual disability	8092	ALX1	ORPHA:306542
HP:0001249	Intellectual disability	5279	PIGC	OMIM:617816
HP:0001249	Intellectual disability	79587	CARS2	ORPHA:477774
HP:0001249	Intellectual disability	84162	BLTP1	OMIM:617822
HP:0001249	Intellectual disability	80347	COASY	OMIM:615643
HP:0001249	Intellectual disability	2782	GNB1	OMIM:616973
HP:0001249	Intellectual disability	2782	GNB1	ORPHA:488613
HP:0001249	Intellectual disability	5447	POR	OMIM:207410
HP:0001249	Intellectual disability	10413	YAP1	ORPHA:1473
HP:0001249	Intellectual disability	10413	YAP1	OMIM:120433
HP:0001249	Intellectual disability	7200	TRH	OMIM:275120
HP:0001249	Intellectual disability	3097	HIVEP2	OMIM:616977
HP:0001249	Intellectual disability	2561	GABRB2	OMIM:617829
HP:0001249	Intellectual disability	2561	GABRB2	ORPHA:442835
HP:0001249	Intellectual disability	2821	GPI	OMIM:613470
HP:0001249	Intellectual disability	116150	NUS1	OMIM:617831
HP:0001249	Intellectual disability	116150	NUS1	ORPHA:442835
HP:0001249	Intellectual disability	51741	WWOX	OMIM:614322
HP:0001249	Intellectual disability	51741	WWOX	ORPHA:442835
HP:0001249	Intellectual disability	134701	RIPPLY2	ORPHA:2311
HP:0001249	Intellectual disability	10683	DLL3	ORPHA:2311
HP:0001249	Intellectual disability	3955	LFNG	ORPHA:2311
HP:0001249	Intellectual disability	84667	HES7	ORPHA:2311
HP:0001249	Intellectual disability	145873	MESP2	ORPHA:2311
HP:0001249	Intellectual disability	6663	SOX10	ORPHA:163746
HP:0001249	Intellectual disability	6663	SOX10	OMIM:611584
HP:0001249	Intellectual disability	6663	SOX10	OMIM:609136
HP:0001249	Intellectual disability	2911	GRM1	ORPHA:324262
HP:0001249	Intellectual disability	2911	GRM1	OMIM:614831
HP:0001249	Intellectual disability	157570	ESCO2	ORPHA:2319
HP:0001249	Intellectual disability	157570	ESCO2	OMIM:268300
HP:0001249	Intellectual disability	157570	ESCO2	OMIM:216100
HP:0001249	Intellectual disability	157570	ESCO2	ORPHA:3103
HP:0001249	Intellectual disability	79583	TMEM231	ORPHA:2318
HP:0001249	Intellectual disability	51524	TMEM138	ORPHA:2318
HP:0001249	Intellectual disability	23090	ZNF423	ORPHA:2318
HP:0001249	Intellectual disability	197131	UBR1	ORPHA:2315
HP:0001249	Intellectual disability	197131	UBR1	OMIM:243800
HP:0001249	Intellectual disability	7098	TLR3	OMIM:613002
HP:0001249	Intellectual disability	114548	NLRP3	ORPHA:1451
HP:0001249	Intellectual disability	760	CA2	ORPHA:2785
HP:0001249	Intellectual disability	760	CA2	OMIM:259730
HP:0001249	Intellectual disability	64840	PORCN	OMIM:305600
HP:0001249	Intellectual disability	55180	LINS1	OMIM:614340
HP:0001249	Intellectual disability	1213	CLTC	OMIM:617854
HP:0001249	Intellectual disability	1213	CLTC	ORPHA:442835
HP:0001249	Intellectual disability	23040	MYT1L	OMIM:616521
HP:0001249	Intellectual disability	85440	DOCK7	ORPHA:411986
HP:0001249	Intellectual disability	6697	SPR	ORPHA:70594
HP:0001249	Intellectual disability	6697	SPR	OMIM:612716
HP:0001249	Intellectual disability	1130	LYST	ORPHA:352723
HP:0001249	Intellectual disability	1130	LYST	OMIM:214500
HP:0001249	Intellectual disability	1130	LYST	ORPHA:167
HP:0001249	Intellectual disability	8022	LHX3	OMIM:221750
HP:0001249	Intellectual disability	1836	SLC26A2	OMIM:222600
HP:0001249	Intellectual disability	22796	COG2	ORPHA:435934
HP:0001249	Intellectual disability	2893	GRIA4	OMIM:617864
HP:0001249	Intellectual disability	23204	ARL6IP1	OMIM:615685
HP:0001249	Intellectual disability	81562	LMAN2L	OMIM:617863
HP:0001249	Intellectual disability	271	AMPD2	OMIM:615686
HP:0001249	Intellectual disability	271	AMPD2	OMIM:615809
HP:0001249	Intellectual disability	60482	SLC5A7	ORPHA:98914
HP:0001249	Intellectual disability	60482	SLC5A7	OMIM:617143
HP:0001249	Intellectual disability	4649	MYO9A	ORPHA:98914
HP:0001249	Intellectual disability	1305	COL13A1	ORPHA:98914
HP:0001249	Intellectual disability	1103	CHAT	ORPHA:98914
HP:0001249	Intellectual disability	6576	SLC25A1	ORPHA:98914
HP:0001249	Intellectual disability	6843	VAMP1	ORPHA:98914
HP:0001249	Intellectual disability	375790	AGRN	ORPHA:98914
HP:0001249	Intellectual disability	127833	SYT2	ORPHA:98914
HP:0001249	Intellectual disability	6572	SLC18A3	ORPHA:98914
HP:0001249	Intellectual disability	6616	SNAP25	ORPHA:98914
HP:0001249	Intellectual disability	8292	COLQ	ORPHA:98915
HP:0001249	Intellectual disability	3913	LAMB2	ORPHA:98915
HP:0001249	Intellectual disability	84628	NTNG2	OMIM:618718
HP:0001249	Intellectual disability	9076	CLDN1	OMIM:607626
HP:0001249	Intellectual disability	4094	MAF	OMIM:601088
HP:0001249	Intellectual disability	4094	MAF	ORPHA:1272
HP:0001249	Intellectual disability	10577	NPC2	OMIM:607625
HP:0001249	Intellectual disability	54802	TRIT1	OMIM:617873
HP:0001249	Intellectual disability	650	BMP2	OMIM:617877
HP:0001249	Intellectual disability	51317	PHF21A	OMIM:618725
HP:0001249	Intellectual disability	51317	PHF21A	ORPHA:52022
HP:0001249	Intellectual disability	55733	HHAT	ORPHA:1422
HP:0001249	Intellectual disability	387	RHOA	OMIM:618727
HP:0001249	Intellectual disability	8777	MPDZ	OMIM:615219
HP:0001249	Intellectual disability	5449	POU1F1	OMIM:613038
HP:0001249	Intellectual disability	7138	TNNT1	ORPHA:98902
HP:0001249	Intellectual disability	7138	TNNT1	OMIM:605355
HP:0001249	Intellectual disability	8086	AAAS	OMIM:231550
HP:0001249	Intellectual disability	124583	CANT1	ORPHA:1425
HP:0001249	Intellectual disability	124583	CANT1	OMIM:251450
HP:0001249	Intellectual disability	55790	CSGALNACT1	ORPHA:1425
HP:0001249	Intellectual disability	8139	GAN	OMIM:256850
HP:0001249	Intellectual disability	8139	GAN	ORPHA:643
HP:0001249	Intellectual disability	9851	KIAA0753	ORPHA:2754
HP:0001249	Intellectual disability	5147	PDE6D	ORPHA:2754
HP:0001249	Intellectual disability	65250	CPLANE1	ORPHA:2754
HP:0001249	Intellectual disability	65250	CPLANE1	OMIM:277170
HP:0001249	Intellectual disability	65250	CPLANE1	ORPHA:475
HP:0001249	Intellectual disability	5573	PRKAR1A	ORPHA:280651
HP:0001249	Intellectual disability	5573	PRKAR1A	OMIM:101800
HP:0001249	Intellectual disability	5573	PRKAR1A	ORPHA:950
HP:0001249	Intellectual disability	5144	PDE4D	ORPHA:280651
HP:0001249	Intellectual disability	5144	PDE4D	OMIM:614613
HP:0001249	Intellectual disability	5144	PDE4D	ORPHA:439822
HP:0001249	Intellectual disability	5144	PDE4D	ORPHA:950
HP:0001249	Intellectual disability	2182	ACSL4	OMIM:300387
HP:0001249	Intellectual disability	83452	RAB33B	OMIM:615222
HP:0001249	Intellectual disability	8626	TP63	ORPHA:1896
HP:0001249	Intellectual disability	8626	TP63	OMIM:106260
HP:0001249	Intellectual disability	8626	TP63	OMIM:604292
HP:0001249	Intellectual disability	7545	ZIC1	OMIM:618736
HP:0001249	Intellectual disability	7545	ZIC1	ORPHA:35099
HP:0001249	Intellectual disability	51763	INPP5K	OMIM:617404
HP:0001249	Intellectual disability	51763	INPP5K	ORPHA:559
HP:0001249	Intellectual disability	109	ADCY3	OMIM:617885
HP:0001249	Intellectual disability	1460	CSNK2B	OMIM:618732
HP:0001249	Intellectual disability	8449	DHX16	OMIM:618733
HP:0001249	Intellectual disability	1497	CTNS	OMIM:219800
HP:0001249	Intellectual disability	8367	H4C5	OMIM:619950
HP:0001249	Intellectual disability	8294	H4C9	OMIM:619951
HP:0001249	Intellectual disability	229	ALDOB	OMIM:229600
HP:0001249	Intellectual disability	9853	RUSC2	OMIM:617773
HP:0001249	Intellectual disability	3703	STT3A	OMIM:615596
HP:0001249	Intellectual disability	3703	STT3A	OMIM:619714
HP:0001249	Intellectual disability	3703	STT3A	ORPHA:370921
HP:0001249	Intellectual disability	6873	TAF2	OMIM:615599
HP:0001249	Intellectual disability	6873	TAF2	ORPHA:397951
HP:0001249	Intellectual disability	1947	EFNB1	ORPHA:1520
HP:0001249	Intellectual disability	1947	EFNB1	OMIM:304110
HP:0001249	Intellectual disability	23417	MLYCD	OMIM:248360
HP:0001249	Intellectual disability	4047	LSS	ORPHA:2850
HP:0001249	Intellectual disability	4047	LSS	OMIM:618840
HP:0001249	Intellectual disability	197	AHSG	ORPHA:2850
HP:0001249	Intellectual disability	3694	ITGB6	ORPHA:2850
HP:0001249	Intellectual disability	5830	PEX5	OMIM:214110
HP:0001249	Intellectual disability	5830	PEX5	OMIM:202370
HP:0001249	Intellectual disability	2067	ERCC1	ORPHA:90322
HP:0001249	Intellectual disability	114803	MYSM1	ORPHA:508542
HP:0001249	Intellectual disability	6855	SYP	OMIM:300802
HP:0001249	Intellectual disability	51111	KMT5B	OMIM:617788
HP:0001249	Intellectual disability	55689	YEATS2	OMIM:615127
HP:0001249	Intellectual disability	55689	YEATS2	ORPHA:86814
HP:0001249	Intellectual disability	80155	NAA15	OMIM:617787
HP:0001249	Intellectual disability	526	ATP6V1B2	OMIM:616455
HP:0001249	Intellectual disability	526	ATP6V1B2	ORPHA:79499
HP:0001249	Intellectual disability	526	ATP6V1B2	ORPHA:3473
HP:0001249	Intellectual disability	526	ATP6V1B2	OMIM:124480
HP:0001249	Intellectual disability	10730	YME1L1	OMIM:617302
HP:0001249	Intellectual disability	129563	DIS3L2	ORPHA:2849
HP:0001249	Intellectual disability	3908	LAMA2	ORPHA:258
HP:0001249	Intellectual disability	3908	LAMA2	OMIM:607855
HP:0001249	Intellectual disability	50964	SOST	ORPHA:1513
HP:0001249	Intellectual disability	23474	ETHE1	ORPHA:51188
HP:0001249	Intellectual disability	23474	ETHE1	OMIM:602473
HP:0001249	Intellectual disability	5428	POLG	ORPHA:298
HP:0001249	Intellectual disability	5428	POLG	OMIM:603041
HP:0001249	Intellectual disability	1890	TYMP	ORPHA:298
HP:0001249	Intellectual disability	1890	TYMP	OMIM:603041
HP:0001249	Intellectual disability	3980	LIG3	ORPHA:298
HP:0001249	Intellectual disability	50484	RRM2B	ORPHA:298
HP:0001249	Intellectual disability	50484	RRM2B	OMIM:612075
HP:0001249	Intellectual disability	10559	SLC35A1	OMIM:603585
HP:0001249	Intellectual disability	8575	PRKRA	ORPHA:210571
HP:0001249	Intellectual disability	535	ATP6V0A1	OMIM:619971
HP:0001249	Intellectual disability	535	ATP6V0A1	OMIM:619970
HP:0001249	Intellectual disability	2937	GSS	OMIM:231900
HP:0001249	Intellectual disability	2937	GSS	OMIM:266130
HP:0001249	Intellectual disability	129685	TAF8	OMIM:619972
HP:0001249	Intellectual disability	10584	COLEC10	OMIM:248340
HP:0001249	Intellectual disability	10584	COLEC10	ORPHA:293843
HP:0001249	Intellectual disability	55870	ASH1L	OMIM:617796
HP:0001249	Intellectual disability	816	CAMK2B	OMIM:617799
HP:0001249	Intellectual disability	815	CAMK2A	OMIM:617798
HP:0001249	Intellectual disability	55109	AGGF1	ORPHA:90308
HP:0001249	Intellectual disability	64359	NXN	ORPHA:1507
HP:0001249	Intellectual disability	4920	ROR2	ORPHA:1507
HP:0001249	Intellectual disability	4920	ROR2	OMIM:268310
HP:0001249	Intellectual disability	5566	PRKACA	ORPHA:289
HP:0001249	Intellectual disability	5567	PRKACB	ORPHA:289
HP:0001249	Intellectual disability	2735	GLI1	ORPHA:289
HP:0001249	Intellectual disability	2121	EVC	ORPHA:289
HP:0001249	Intellectual disability	2121	EVC	OMIM:225500
HP:0001249	Intellectual disability	51626	DYNC2LI1	ORPHA:289
HP:0001249	Intellectual disability	132884	EVC2	ORPHA:289
HP:0001249	Intellectual disability	132884	EVC2	OMIM:225500
HP:0001249	Intellectual disability	22884	WDR37	OMIM:618652
HP:0001249	Intellectual disability	1656	DDX6	OMIM:618653
HP:0001249	Intellectual disability	3612	IMPA1	OMIM:617323
HP:0001249	Intellectual disability	55714	TENM3	OMIM:615145
HP:0001249	Intellectual disability	57178	ZMIZ1	OMIM:618659
HP:0001249	Intellectual disability	2783	GNB2	OMIM:619503
HP:0001249	Intellectual disability	9731	CEP104	OMIM:619988
HP:0001249	Intellectual disability	9731	CEP104	ORPHA:475
HP:0001249	Intellectual disability	3737	KCNA2	ORPHA:442835
HP:0001249	Intellectual disability	3737	KCNA2	OMIM:616366
HP:0001249	Intellectual disability	8120	AP3B2	ORPHA:442835
HP:0001249	Intellectual disability	10991	SLC38A3	ORPHA:442835
HP:0001249	Intellectual disability	10991	SLC38A3	OMIM:619881
HP:0001249	Intellectual disability	22906	TRAK1	ORPHA:442835
HP:0001249	Intellectual disability	1917	EEF1A2	ORPHA:442835
HP:0001249	Intellectual disability	7532	YWHAG	ORPHA:442835
HP:0001249	Intellectual disability	7532	YWHAG	OMIM:617665
HP:0001249	Intellectual disability	79876	UBA5	ORPHA:442835
HP:0001249	Intellectual disability	2558	GABRA5	ORPHA:442835
HP:0001249	Intellectual disability	2906	GRIN2D	ORPHA:442835
HP:0001249	Intellectual disability	10659	CELF2	ORPHA:442835
HP:0001249	Intellectual disability	10659	CELF2	OMIM:619561
HP:0001249	Intellectual disability	774	CACNA1B	ORPHA:442835
HP:0001249	Intellectual disability	23334	SZT2	ORPHA:442835
HP:0001249	Intellectual disability	51412	ACTL6B	ORPHA:442835
HP:0001249	Intellectual disability	51412	ACTL6B	OMIM:618468
HP:0001249	Intellectual disability	348980	HCN1	ORPHA:442835
HP:0001249	Intellectual disability	348980	HCN1	OMIM:615871
HP:0001249	Intellectual disability	348980	HCN1	OMIM:618482
HP:0001249	Intellectual disability	2258	FGF13	ORPHA:442835
HP:0001249	Intellectual disability	3745	KCNB1	ORPHA:442835
HP:0001249	Intellectual disability	284111	SLC13A5	ORPHA:442835
HP:0001249	Intellectual disability	25977	NECAP1	ORPHA:442835
HP:0001249	Intellectual disability	16	AARS1	ORPHA:442835
HP:0001249	Intellectual disability	22866	CNKSR2	ORPHA:442835
HP:0001249	Intellectual disability	2555	GABRA2	ORPHA:442835
HP:0001249	Intellectual disability	55152	DALRD3	ORPHA:442835
HP:0001249	Intellectual disability	26999	CYFIP2	ORPHA:442835
HP:0001249	Intellectual disability	25973	PARS2	ORPHA:442835
HP:0001249	Intellectual disability	23097	CDK19	ORPHA:442835
HP:0001249	Intellectual disability	23097	CDK19	OMIM:618916
HP:0001249	Intellectual disability	5530	PPP3CA	ORPHA:442835
HP:0001249	Intellectual disability	5530	PPP3CA	OMIM:618265
HP:0001249	Intellectual disability	5530	PPP3CA	OMIM:617711
HP:0001249	Intellectual disability	55623	THUMPD1	OMIM:619989
HP:0001249	Intellectual disability	3782	KCNN3	OMIM:618658
HP:0001249	Intellectual disability	3782	KCNN3	ORPHA:3473
HP:0001249	Intellectual disability	492	ATP2B3	ORPHA:314978
HP:0001249	Intellectual disability	3476	IGBP1	ORPHA:52055
HP:0001249	Intellectual disability	3476	IGBP1	OMIM:300472
HP:0001249	Intellectual disability	253738	EBF3	OMIM:617330
HP:0001249	Intellectual disability	56006	SMG9	OMIM:619995
HP:0001249	Intellectual disability	1182	CLCN3	OMIM:619512
HP:0001249	Intellectual disability	7862	BRPF1	OMIM:617333
HP:0001249	Intellectual disability	59335	PRDM12	OMIM:616488
HP:0001249	Intellectual disability	286	ANK1	ORPHA:251066
HP:0001249	Intellectual disability	5860	QDPR	ORPHA:226
HP:0001249	Intellectual disability	5860	QDPR	OMIM:261630
HP:0001249	Intellectual disability	26137	ZBTB20	OMIM:259050
HP:0001249	Intellectual disability	26137	ZBTB20	ORPHA:3042
HP:0001249	Intellectual disability	9533	POLR1C	OMIM:616494
HP:0001249	Intellectual disability	4849	CNOT3	OMIM:618672
HP:0001249	Intellectual disability	153201	SLC36A2	OMIM:242600
HP:0001249	Intellectual disability	339855	KY	ORPHA:496689
HP:0001249	Intellectual disability	57479	PRR12	OMIM:619539
HP:0001249	Intellectual disability	2678	GGT1	OMIM:231950
HP:0001249	Intellectual disability	3785	KCNQ2	ORPHA:439218
HP:0001249	Intellectual disability	3785	KCNQ2	OMIM:613720
HP:0001249	Intellectual disability	4052	LTBP1	ORPHA:90349
HP:0001249	Intellectual disability	30008	EFEMP2	ORPHA:90349
HP:0001249	Intellectual disability	10516	FBLN5	ORPHA:90349
HP:0001249	Intellectual disability	3930	LBR	OMIM:169400
HP:0001249	Intellectual disability	1107	CHD3	OMIM:618205
HP:0001249	Intellectual disability	23189	KANK1	OMIM:612900
HP:0001249	Intellectual disability	2055	CLN8	ORPHA:1947
HP:0001249	Intellectual disability	2055	CLN8	OMIM:610003
HP:0001249	Intellectual disability	1173	AP2M1	ORPHA:1942
HP:0001249	Intellectual disability	1173	AP2M1	OMIM:618587
HP:0001249	Intellectual disability	6529	SLC6A1	ORPHA:1942
HP:0001249	Intellectual disability	6529	SLC6A1	OMIM:616421
HP:0001249	Intellectual disability	148789	B3GALNT2	OMIM:615181
HP:0001249	Intellectual disability	148789	B3GALNT2	ORPHA:899
HP:0001249	Intellectual disability	8621	CDK13	OMIM:617360
HP:0001249	Intellectual disability	164	AP1G1	OMIM:619548
HP:0001249	Intellectual disability	164	AP1G1	OMIM:619467
HP:0001249	Intellectual disability	3736	KCNA1	ORPHA:1934
HP:0001249	Intellectual disability	9091	PIGQ	ORPHA:1934
HP:0001249	Intellectual disability	2775	GNAO1	ORPHA:1934
HP:0001249	Intellectual disability	81603	TRIM8	ORPHA:1934
HP:0001249	Intellectual disability	79751	SLC25A22	ORPHA:1934
HP:0001249	Intellectual disability	150094	SIK1	ORPHA:1934
HP:0001249	Intellectual disability	2917	GRM7	ORPHA:1934
HP:0001249	Intellectual disability	2917	GRM7	OMIM:618922
HP:0001249	Intellectual disability	11284	PNKP	ORPHA:1934
HP:0001249	Intellectual disability	6326	SCN2A	ORPHA:1934
HP:0001249	Intellectual disability	6324	SCN1B	ORPHA:1934
HP:0001249	Intellectual disability	4761	NEUROD2	ORPHA:1934
HP:0001249	Intellectual disability	10456	HAX1	OMIM:610738
HP:0001249	Intellectual disability	3912	LAMB1	OMIM:615191
HP:0001249	Intellectual disability	55217	TMLHE	OMIM:300872
HP:0001249	Intellectual disability	30000	TNPO2	OMIM:619556
HP:0001249	Intellectual disability	79705	LRRK1	OMIM:615198
HP:0001249	Intellectual disability	57102	C12orf4	OMIM:618221
HP:0001249	Intellectual disability	359	AQP2	OMIM:125800
HP:0001249	Intellectual disability	81570	CLPB	ORPHA:445038
HP:0001249	Intellectual disability	81570	CLPB	OMIM:616271
HP:0001249	Intellectual disability	5745	PTH1R	OMIM:600002
HP:0001249	Intellectual disability	7555	CNBP	OMIM:602668
HP:0001249	Intellectual disability	55869	HDAC8	OMIM:300882
HP:0001249	Intellectual disability	55869	HDAC8	ORPHA:3459
HP:0001249	Intellectual disability	55869	HDAC8	ORPHA:199
HP:0001249	Intellectual disability	1349	COX7B	OMIM:300887
HP:0001249	Intellectual disability	1349	COX7B	ORPHA:2556
HP:0001249	Intellectual disability	1349	COX7B	OMIM:309801
HP:0001249	Intellectual disability	4695	NDUFA2	OMIM:618235
HP:0001249	Intellectual disability	9342	SNAP29	ORPHA:66631
HP:0001249	Intellectual disability	79048	SECISBP2	ORPHA:171706
HP:0001249	Intellectual disability	2710	GK	OMIM:307030
HP:0001249	Intellectual disability	9126	SMC3	OMIM:610759
HP:0001249	Intellectual disability	9126	SMC3	ORPHA:199
HP:0001249	Intellectual disability	79944	L2HGDH	OMIM:236792
HP:0001249	Intellectual disability	10166	SLC25A15	OMIM:238970
HP:0001249	Intellectual disability	10166	SLC25A15	ORPHA:415
HP:0001249	Intellectual disability	1491	CTH	ORPHA:212
HP:0001249	Intellectual disability	1741	DLG3	OMIM:300850
HP:0001249	Intellectual disability	3192	HNRNPU	OMIM:617391
HP:0001249	Intellectual disability	164656	TMPRSS6	ORPHA:209981
HP:0001249	Intellectual disability	57551	TAOK1	OMIM:619575
HP:0001249	Intellectual disability	123263	MTFMT	OMIM:618248
HP:0001249	Intellectual disability	29920	PYCR2	ORPHA:481152
HP:0001249	Intellectual disability	9820	CUL7	OMIM:273750
HP:0001249	Intellectual disability	23203	PMPCA	OMIM:213200
HP:0001249	Intellectual disability	23203	PMPCA	ORPHA:1170
HP:0001249	Intellectual disability	22845	DOLK	OMIM:610768
HP:0001249	Intellectual disability	22845	DOLK	ORPHA:91131
HP:0001249	Intellectual disability	4864	NPC1	OMIM:257220
HP:0001249	Intellectual disability	2299	FOXI1	OMIM:274600
HP:0001249	Intellectual disability	2299	FOXI1	ORPHA:705
HP:0001249	Intellectual disability	5172	SLC26A4	OMIM:274600
HP:0001249	Intellectual disability	5172	SLC26A4	ORPHA:705
HP:0001249	Intellectual disability	6898	TAT	ORPHA:28378
HP:0001249	Intellectual disability	6898	TAT	OMIM:276600
HP:0001249	Intellectual disability	10483	SEC23B	ORPHA:201
HP:0001249	Intellectual disability	6390	SDHB	ORPHA:201
HP:0001249	Intellectual disability	6392	SDHD	ORPHA:201
HP:0001249	Intellectual disability	6391	SDHC	ORPHA:201
HP:0001249	Intellectual disability	205717	USF3	ORPHA:201
HP:0001249	Intellectual disability	100144748	KLLN	ORPHA:201
HP:0001249	Intellectual disability	80324	PUS1	OMIM:600462
HP:0001249	Intellectual disability	80324	PUS1	ORPHA:2598
HP:0001249	Intellectual disability	3172	HNF4A	ORPHA:263455
HP:0001249	Intellectual disability	80173	IFT74	OMIM:619582
HP:0001249	Intellectual disability	80173	IFT74	ORPHA:110
HP:0001249	Intellectual disability	80173	IFT74	OMIM:617119
HP:0001249	Intellectual disability	2475	MTOR	ORPHA:457485
HP:0001249	Intellectual disability	2475	MTOR	OMIM:607341
HP:0001249	Intellectual disability	2475	MTOR	OMIM:616638
HP:0001249	Intellectual disability	6023	RMRP	OMIM:607095
HP:0001249	Intellectual disability	51715	RAB23	ORPHA:65759
HP:0001249	Intellectual disability	51715	RAB23	OMIM:201000
HP:0001249	Intellectual disability	1954	MEGF8	ORPHA:65759
HP:0001249	Intellectual disability	9244	CRLF1	OMIM:272430
HP:0001249	Intellectual disability	81620	CDT1	OMIM:613804
HP:0001249	Intellectual disability	81620	CDT1	ORPHA:2554
HP:0001249	Intellectual disability	3975	LHX1	ORPHA:261265
HP:0001249	Intellectual disability	6928	HNF1B	ORPHA:261265
HP:0001249	Intellectual disability	6928	HNF1B	ORPHA:93111
HP:0001249	Intellectual disability	139411	PTCHD1	OMIM:300830
HP:0001249	Intellectual disability	79005	SCNM1	OMIM:620107
HP:0001249	Intellectual disability	113189	CHST14	OMIM:601776
HP:0001249	Intellectual disability	22978	NT5C2	ORPHA:320396
HP:0001249	Intellectual disability	22978	NT5C2	OMIM:613162
HP:0001249	Intellectual disability	6566	SLC16A1	OMIM:616095
HP:0001249	Intellectual disability	22983	MAST1	OMIM:618273
HP:0001249	Intellectual disability	23031	MAST3	OMIM:620115
HP:0001249	Intellectual disability	118924	FRA10AC1	OMIM:620113
HP:0001249	Intellectual disability	8911	CACNA1I	OMIM:620114
HP:0001249	Intellectual disability	745	MYRF	OMIM:618280
HP:0001249	Intellectual disability	9895	TECPR2	ORPHA:320385
HP:0001249	Intellectual disability	9895	TECPR2	OMIM:615031
HP:0001249	Intellectual disability	57020	VPS35L	OMIM:619135
HP:0001249	Intellectual disability	3739	KCNA4	OMIM:618284
HP:0001249	Intellectual disability	4781	NFIB	OMIM:618286
HP:0001249	Intellectual disability	383	ARG1	OMIM:207800
HP:0001249	Intellectual disability	23259	DDHD2	ORPHA:320380
HP:0001249	Intellectual disability	23259	DDHD2	OMIM:615033
HP:0001249	Intellectual disability	79644	SRD5A3	ORPHA:324737
HP:0001249	Intellectual disability	79644	SRD5A3	OMIM:612379
HP:0001249	Intellectual disability	27161	AGO2	OMIM:619149
HP:0001249	Intellectual disability	221692	PHACTR1	OMIM:618298
HP:0001249	Intellectual disability	8517	IKBKG	OMIM:308300
HP:0001249	Intellectual disability	8517	IKBKG	ORPHA:464
HP:0001249	Intellectual disability	2690	GHR	ORPHA:633
HP:0001249	Intellectual disability	11005	SPINK5	ORPHA:634
HP:0001249	Intellectual disability	4594	MMUT	ORPHA:289916
HP:0001249	Intellectual disability	4594	MMUT	ORPHA:79312
HP:0001249	Intellectual disability	341640	FREM2	ORPHA:2052
HP:0001249	Intellectual disability	23426	GRIP1	ORPHA:2052
HP:0001249	Intellectual disability	10262	SF3B4	OMIM:154400
HP:0001249	Intellectual disability	23019	CNOT1	OMIM:619033
HP:0001249	Intellectual disability	23556	PIGN	ORPHA:2059
HP:0001249	Intellectual disability	23556	PIGN	OMIM:614080
HP:0001249	Intellectual disability	145173	B3GLCT	ORPHA:709
HP:0001249	Intellectual disability	55325	UFSP2	OMIM:620028
HP:0001249	Intellectual disability	10274	STAG1	ORPHA:502434
HP:0001249	Intellectual disability	10274	STAG1	OMIM:617635
HP:0001249	Intellectual disability	4774	NFIA	OMIM:613735
HP:0001249	Intellectual disability	4774	NFIA	ORPHA:401986
HP:0001249	Intellectual disability	10992	SF3B2	OMIM:164210
HP:0001249	Intellectual disability	8496	PPFIBP1	OMIM:620024
HP:0001249	Intellectual disability	118987	PDZD8	OMIM:620021
HP:0001249	Intellectual disability	1299	COL9A3	OMIM:620022
HP:0001249	Intellectual disability	501	ALDH7A1	OMIM:266100
HP:0001249	Intellectual disability	501	ALDH7A1	ORPHA:3006
HP:0001249	Intellectual disability	6335	SCN9A	OMIM:243000
HP:0001249	Intellectual disability	10472	ZBTB18	ORPHA:36367
HP:0001249	Intellectual disability	10472	ZBTB18	OMIM:612337
HP:0001249	Intellectual disability	51204	TACO1	OMIM:619052
HP:0001249	Intellectual disability	9739	SETD1A	OMIM:619056
HP:0001249	Intellectual disability	191	AHCY	OMIM:613752
HP:0001249	Intellectual disability	340024	SLC6A19	OMIM:234500
HP:0001249	Intellectual disability	340024	SLC6A19	ORPHA:2116
HP:0001249	Intellectual disability	84823	LMNB2	ORPHA:79087
HP:0001249	Intellectual disability	10000	AKT3	OMIM:615937
HP:0001249	Intellectual disability	23732	FRRS1L	ORPHA:725
HP:0001249	Intellectual disability	10015	PDCD6IP	OMIM:620047
HP:0001249	Intellectual disability	84334	COA8	OMIM:619061
HP:0001249	Intellectual disability	84334	COA8	ORPHA:436271
HP:0001249	Intellectual disability	4212	MEIS2	OMIM:600987
HP:0001249	Intellectual disability	4212	MEIS2	ORPHA:261190
HP:0001249	Intellectual disability	26053	AUTS2	ORPHA:352490
HP:0001249	Intellectual disability	26053	AUTS2	OMIM:615834
HP:0001249	Intellectual disability	79813	EHMT1	OMIM:610253
HP:0001249	Intellectual disability	79813	EHMT1	ORPHA:261652
HP:0001249	Intellectual disability	79813	EHMT1	ORPHA:96147
HP:0001249	Intellectual disability	10382	TUBB4A	OMIM:612438
HP:0001249	Intellectual disability	5230	PGK1	ORPHA:713
HP:0001249	Intellectual disability	5230	PGK1	OMIM:300653
HP:0001249	Intellectual disability	3265	HRAS	OMIM:218040
HP:0001249	Intellectual disability	3265	HRAS	OMIM:163200
HP:0001249	Intellectual disability	3265	HRAS	ORPHA:2612
HP:0001249	Intellectual disability	3265	HRAS	ORPHA:3071
HP:0001249	Intellectual disability	7490	WT1	OMIM:194072
HP:0001249	Intellectual disability	7490	WT1	ORPHA:893
HP:0001249	Intellectual disability	5091	PC	OMIM:266150
HP:0001249	Intellectual disability	4035	LRP1	OMIM:604093
HP:0001249	Intellectual disability	6660	SOX5	OMIM:616803
HP:0001249	Intellectual disability	6660	SOX5	ORPHA:313892
HP:0001249	Intellectual disability	81031	SLC2A10	ORPHA:3342
HP:0001249	Intellectual disability	81031	SLC2A10	OMIM:208050
HP:0001249	Intellectual disability	22859	ADGRL1	OMIM:620065
HP:0001249	Intellectual disability	83475	DOHH	OMIM:620066
HP:0001249	Intellectual disability	6609	SMPD1	OMIM:257200
HP:0001249	Intellectual disability	6609	SMPD1	ORPHA:77293
HP:0001249	Intellectual disability	92667	MGME1	ORPHA:352447
HP:0001249	Intellectual disability	92667	MGME1	OMIM:615084
HP:0001249	Intellectual disability	58508	KMT2C	ORPHA:261652
HP:0001249	Intellectual disability	58508	KMT2C	OMIM:617768
HP:0001249	Intellectual disability	4089	SMAD4	OMIM:139210
HP:0001249	Intellectual disability	4089	SMAD4	ORPHA:2588
HP:0001249	Intellectual disability	255928	SYT14	ORPHA:284271
HP:0001249	Intellectual disability	554	AVPR2	OMIM:304800
HP:0001249	Intellectual disability	26227	PHGDH	OMIM:601815
HP:0001249	Intellectual disability	51085	MLXIPL	OMIM:194050
HP:0001249	Intellectual disability	51085	MLXIPL	ORPHA:904
HP:0001249	Intellectual disability	2006	ELN	OMIM:194050
HP:0001249	Intellectual disability	2006	ELN	ORPHA:904
HP:0001249	Intellectual disability	3178	HNRNPA1	ORPHA:52430
HP:0001249	Intellectual disability	7415	VCP	ORPHA:52430
HP:0001249	Intellectual disability	3181	HNRNPA2B1	ORPHA:52430
HP:0001249	Intellectual disability	55691	FRMD4A	OMIM:616819
HP:0001249	Intellectual disability	10430	TMEM147	OMIM:620075
HP:0001249	Intellectual disability	3187	HNRNPH1	OMIM:620083
HP:0001249	Intellectual disability	11152	WDR45	OMIM:300894
HP:0001249	Intellectual disability	11152	WDR45	ORPHA:329284
HP:0001249	Intellectual disability	22880	MORC2	OMIM:619090
HP:0001249	Intellectual disability	22880	MORC2	ORPHA:466768
HP:0001249	Intellectual disability	11117	EMILIN1	OMIM:620080
HP:0001249	Intellectual disability	4677	NARS1	OMIM:619091
HP:0001249	Intellectual disability	4677	NARS1	OMIM:619092
HP:0001249	Intellectual disability	5915	RARB	ORPHA:2470
HP:0001249	Intellectual disability	5915	RARB	OMIM:615524
HP:0001249	Intellectual disability	7355	SLC35A2	OMIM:300896
HP:0001249	Intellectual disability	7355	SLC35A2	ORPHA:356961
HP:0001249	Intellectual disability	4488	MSX2	ORPHA:60015
HP:0001249	Intellectual disability	4488	MSX2	OMIM:604757
HP:0001249	Intellectual disability	9147	NEMF	OMIM:619099
HP:0001249	Intellectual disability	8195	MKKS	ORPHA:2473
HP:0001249	Intellectual disability	8195	MKKS	ORPHA:110
HP:0001249	Intellectual disability	8195	MKKS	OMIM:605231
HP:0001249	Intellectual disability	79791	FBXO31	OMIM:615979
HP:0001249	Intellectual disability	3954	LETM1	OMIM:620089
HP:0001249	Intellectual disability	51750	RTEL1	ORPHA:3322
HP:0001249	Intellectual disability	65057	ACD	ORPHA:3322
HP:0001249	Intellectual disability	5073	PARN	ORPHA:3322
HP:0001249	Intellectual disability	7015	TERT	ORPHA:3322
HP:0001249	Intellectual disability	26277	TINF2	ORPHA:3322
HP:0001249	Intellectual disability	1736	DKC1	ORPHA:3322
HP:0001249	Intellectual disability	1736	DKC1	OMIM:305000
HP:0001249	Intellectual disability	84978	FRMD5	OMIM:620094
HP:0001249	Intellectual disability	54413	NLGN3	OMIM:300425
HP:0001249	Intellectual disability	10159	ATP6AP2	OMIM:300423
HP:0001249	Intellectual disability	10159	ATP6AP2	ORPHA:93952
HP:0001249	Intellectual disability	113612	CYP2U1	ORPHA:320411
HP:0001249	Intellectual disability	113612	CYP2U1	OMIM:615030
HP:0001249	Intellectual disability	55212	BBS7	OMIM:615984
HP:0001249	Intellectual disability	55212	BBS7	ORPHA:110
HP:0001249	Intellectual disability	2702	GJA5	OMIM:612474
HP:0001249	Intellectual disability	2703	GJA8	OMIM:612474
HP:0001249	Intellectual disability	585	BBS4	OMIM:615982
HP:0001249	Intellectual disability	585	BBS4	ORPHA:110
HP:0001249	Intellectual disability	55690	PACS1	ORPHA:329224
HP:0001249	Intellectual disability	55690	PACS1	OMIM:615009
HP:0001249	Intellectual disability	51053	GMNN	OMIM:616835
HP:0001249	Intellectual disability	51053	GMNN	ORPHA:2554
HP:0001249	Intellectual disability	10664	CTCF	OMIM:615502
HP:0001249	Intellectual disability	10664	CTCF	ORPHA:363611
HP:0001249	Intellectual disability	27241	BBS9	OMIM:615986
HP:0001249	Intellectual disability	27241	BBS9	ORPHA:110
HP:0001249	Intellectual disability	6497	SKI	ORPHA:2462
HP:0001249	Intellectual disability	6497	SKI	ORPHA:1606
HP:0001249	Intellectual disability	6497	SKI	OMIM:182212
HP:0001249	Intellectual disability	3720	JARID2	OMIM:620098
HP:0001249	Intellectual disability	6938	TCF12	ORPHA:35099
HP:0001249	Intellectual disability	6938	TCF12	OMIM:619718
HP:0001249	Intellectual disability	6683	SPAST	ORPHA:100985
HP:0001249	Intellectual disability	6683	SPAST	OMIM:182601
HP:0001249	Intellectual disability	5193	PEX12	OMIM:266510
HP:0001249	Intellectual disability	92482	BBIP1	OMIM:615995
HP:0001249	Intellectual disability	92482	BBIP1	ORPHA:110
HP:0001249	Intellectual disability	11020	IFT27	OMIM:615996
HP:0001249	Intellectual disability	11020	IFT27	ORPHA:110
HP:0001249	Intellectual disability	29926	GMPPA	OMIM:615510
HP:0001249	Intellectual disability	54585	LZTFL1	OMIM:615994
HP:0001249	Intellectual disability	54585	LZTFL1	ORPHA:110
HP:0001249	Intellectual disability	411	ARSB	OMIM:253200
HP:0001249	Intellectual disability	57511	COG6	ORPHA:363523
HP:0001249	Intellectual disability	57511	COG6	OMIM:614576
HP:0001249	Intellectual disability	57511	COG6	OMIM:615328
HP:0001249	Intellectual disability	91179	SCARF2	OMIM:600920
HP:0001249	Intellectual disability	80207	OPA3	ORPHA:67047
HP:0001249	Intellectual disability	125988	MICOS13	ORPHA:67047
HP:0001249	Intellectual disability	3920	LAMP2	ORPHA:34587
HP:0001249	Intellectual disability	3920	LAMP2	OMIM:300257
HP:0001249	Intellectual disability	26224	FBXL3	OMIM:606220
HP:0001249	Intellectual disability	10265	IRX5	OMIM:611174
HP:0001249	Intellectual disability	10841	FTCD	OMIM:229100
HP:0001249	Intellectual disability	5925	RB1	ORPHA:1587
HP:0001249	Intellectual disability	7874	USP7	OMIM:616863
HP:0001249	Intellectual disability	7874	USP7	ORPHA:500055
HP:0001249	Intellectual disability	29940	DSE	OMIM:615539
HP:0001249	Intellectual disability	1641	DCX	OMIM:300067
HP:0001249	Intellectual disability	1105	CHD1	ORPHA:529965
HP:0001249	Intellectual disability	1105	CHD1	OMIM:617682
HP:0001249	Intellectual disability	3758	KCNJ1	OMIM:241200
HP:0001249	Intellectual disability	547	KIF1A	OMIM:614213
HP:0001249	Intellectual disability	547	KIF1A	OMIM:614255
HP:0001249	Intellectual disability	8884	SLC5A6	OMIM:619903
HP:0001249	Intellectual disability	128989	TANGO2	OMIM:616878
HP:0001249	Intellectual disability	128989	TANGO2	ORPHA:480864
HP:0001249	Intellectual disability	55644	OSGEP	OMIM:617729
HP:0001249	Intellectual disability	4644	MYO5A	ORPHA:79476
HP:0001249	Intellectual disability	4644	MYO5A	ORPHA:33445
HP:0001249	Intellectual disability	4644	MYO5A	OMIM:214450
HP:0001249	Intellectual disability	7074	TIAM1	OMIM:619908
HP:0001249	Intellectual disability	8200	GDF5	OMIM:200700
HP:0001249	Intellectual disability	340075	ARSI	ORPHA:401815
HP:0001249	Intellectual disability	112858	TP53RK	OMIM:617730
HP:0001249	Intellectual disability	3747	KCNC2	OMIM:619913
HP:0001249	Intellectual disability	23233	EXOC6B	ORPHA:93359
HP:0001249	Intellectual disability	126792	B3GALT6	ORPHA:93359
HP:0001249	Intellectual disability	51002	TPRKB	OMIM:617731
HP:0001249	Intellectual disability	490	ATP2B1	OMIM:619910
HP:0001249	Intellectual disability	5293	PIK3CD	ORPHA:221139
HP:0001249	Intellectual disability	90417	KNSTRN	ORPHA:221139
HP:0001249	Intellectual disability	2890	GRIA1	OMIM:619927
HP:0001249	Intellectual disability	54805	CNNM2	OMIM:616418
HP:0001249	Intellectual disability	2068	ERCC2	ORPHA:220295
HP:0001249	Intellectual disability	2068	ERCC2	OMIM:601675
HP:0001249	Intellectual disability	2068	ERCC2	OMIM:278730
HP:0001249	Intellectual disability	2073	ERCC5	ORPHA:220295
HP:0001249	Intellectual disability	2071	ERCC3	ORPHA:220295
HP:0001249	Intellectual disability	2071	ERCC3	OMIM:616390
HP:0001249	Intellectual disability	2071	ERCC3	OMIM:610651
HP:0001249	Intellectual disability	55164	SHQ1	OMIM:619921
HP:0001249	Intellectual disability	6591	SNAI2	ORPHA:2884
HP:0001249	Intellectual disability	3815	KIT	ORPHA:2884
HP:0001249	Intellectual disability	8241	RBM10	ORPHA:2886
HP:0001249	Intellectual disability	9320	TRIP12	OMIM:617752
HP:0001249	Intellectual disability	5879	RAC1	OMIM:617751
HP:0001249	Intellectual disability	5879	RAC1	ORPHA:500159
HP:0001249	Intellectual disability	5538	PPT1	OMIM:256730
HP:0001249	Intellectual disability	1663	DDX11	OMIM:613398
HP:0001249	Intellectual disability	5455	POU3F3	OMIM:618604
HP:0001249	Intellectual disability	1203	CLN5	OMIM:256731
HP:0001249	Intellectual disability	2990	GUSB	OMIM:253220
HP:0001249	Intellectual disability	2990	GUSB	ORPHA:584
HP:0001249	Intellectual disability	3034	HAL	OMIM:235800
HP:0001249	Intellectual disability	10082	GPC6	ORPHA:93329
HP:0001249	Intellectual disability	406932	MIR140	OMIM:618618
HP:0001249	Intellectual disability	776	CACNA1D	OMIM:615474
HP:0001249	Intellectual disability	55823	VPS11	ORPHA:466934
HP:0001249	Intellectual disability	55823	VPS11	OMIM:616683
HP:0001249	Intellectual disability	4897	NRCAM	OMIM:619833
HP:0001249	Intellectual disability	91801	ALKBH8	OMIM:618504
HP:0001249	Intellectual disability	23498	HAAO	OMIM:617660
HP:0001249	Intellectual disability	24137	KIF4A	OMIM:300923
HP:0001249	Intellectual disability	9578	CDC42BPB	OMIM:619841
HP:0001249	Intellectual disability	64412	GZF1	OMIM:617662
HP:0001249	Intellectual disability	1841	DTYMK	OMIM:619847
HP:0001249	Intellectual disability	3149	HMGB3	OMIM:300915
HP:0001249	Intellectual disability	57082	KNL1	OMIM:604321
HP:0001249	Intellectual disability	55636	CHD7	ORPHA:138
HP:0001249	Intellectual disability	55636	CHD7	OMIM:214800
HP:0001249	Intellectual disability	9723	SEMA3E	ORPHA:138
HP:0001249	Intellectual disability	7345	UCHL1	OMIM:615491
HP:0001249	Intellectual disability	64834	ELOVL1	OMIM:618527
HP:0001249	Intellectual disability	2770	GNAI1	OMIM:619854
HP:0001249	Intellectual disability	79140	CCDC28B	OMIM:209900
HP:0001249	Intellectual disability	23347	SMCHD1	OMIM:603457
HP:0001249	Intellectual disability	10087	CERT1	OMIM:616351
HP:0001249	Intellectual disability	57231	SNX14	OMIM:616354
HP:0001249	Intellectual disability	23327	NEDD4L	OMIM:617201
HP:0001249	Intellectual disability	1201	CLN3	OMIM:204200
HP:0001249	Intellectual disability	23007	PLCH1	ORPHA:93925
HP:0001249	Intellectual disability	10716	TBR1	ORPHA:1617
HP:0001249	Intellectual disability	51057	WDPCP	ORPHA:110
HP:0001249	Intellectual disability	84984	CEP19	ORPHA:110
HP:0001249	Intellectual disability	84984	CEP19	OMIM:615703
HP:0001249	Intellectual disability	22954	TRIM32	ORPHA:110
HP:0001249	Intellectual disability	166379	BBS12	ORPHA:110
HP:0001249	Intellectual disability	129880	BBS5	ORPHA:110
HP:0001249	Intellectual disability	5518	PPP2R1A	OMIM:616362
HP:0001249	Intellectual disability	5518	PPP2R1A	ORPHA:457284
HP:0001249	Intellectual disability	26038	CHD5	OMIM:619873
HP:0001249	Intellectual disability	57680	CHD8	OMIM:615032
HP:0001249	Intellectual disability	8558	CDK10	OMIM:617694
HP:0001249	Intellectual disability	51692	CPSF3	OMIM:619876
HP:0001249	Intellectual disability	3098	HK1	OMIM:618547
HP:0001249	Intellectual disability	5590	PRKCZ	ORPHA:1606
HP:0001249	Intellectual disability	23013	SPEN	ORPHA:1606
HP:0001249	Intellectual disability	23013	SPEN	OMIM:619312
HP:0001249	Intellectual disability	8510	MMP23B	ORPHA:1606
HP:0001249	Intellectual disability	7798	LUZP1	ORPHA:1606
HP:0001249	Intellectual disability	10630	PDPN	ORPHA:1606
HP:0001249	Intellectual disability	10277	UBE4B	ORPHA:1606
HP:0001249	Intellectual disability	8514	KCNAB2	ORPHA:1606
HP:0001249	Intellectual disability	63976	PRDM16	ORPHA:1606
HP:0001249	Intellectual disability	54897	CASZ1	ORPHA:1606
HP:0001249	Intellectual disability	285362	SUMF1	ORPHA:585
HP:0001249	Intellectual disability	285362	SUMF1	OMIM:272200
HP:0001249	Intellectual disability	55210	ATAD3A	ORPHA:496790
HP:0001249	Intellectual disability	55210	ATAD3A	OMIM:617183
HP:0001249	Intellectual disability	9276	COPB2	OMIM:619884
HP:0001249	Intellectual disability	83479	DDX59	ORPHA:2919
HP:0001249	Intellectual disability	83479	DDX59	OMIM:174300
HP:0001249	Intellectual disability	56098	PCDHGC4	OMIM:619880
HP:0001249	Intellectual disability	57192	MCOLN1	ORPHA:578
HP:0001249	Intellectual disability	57192	MCOLN1	OMIM:252650
HP:0001249	Intellectual disability	1749	DLX5	OMIM:183600
HP:0001249	Intellectual disability	64919	BCL11B	OMIM:617237
HP:0001249	Intellectual disability	64919	BCL11B	OMIM:618092
HP:0001249	Intellectual disability	374969	SVBP	OMIM:618569
HP:0001249	Intellectual disability	84295	PHF6	ORPHA:127
HP:0001249	Intellectual disability	617	BCS1L	ORPHA:123
HP:0001249	Intellectual disability	617	BCS1L	OMIM:262000
HP:0001249	Intellectual disability	617	BCS1L	OMIM:124000
HP:0001249	Intellectual disability	404672	GTF2H5	OMIM:616395
HP:0001249	Intellectual disability	7227	TRPS1	OMIM:190350
HP:0001249	Intellectual disability	7227	TRPS1	OMIM:190351
HP:0001249	Intellectual disability	7227	TRPS1	ORPHA:502
HP:0001249	Intellectual disability	7046	TGFBR1	OMIM:609192
HP:0001249	Intellectual disability	1642	DDB1	OMIM:619426
HP:0001249	Intellectual disability	389827	MYMK	OMIM:254940
HP:0001249	Intellectual disability	389827	MYMK	ORPHA:1358
HP:0001249	Intellectual disability	4126	MANBA	ORPHA:118
HP:0001249	Intellectual disability	4126	MANBA	OMIM:248510
HP:0001249	Intellectual disability	410	ARSA	OMIM:250100
HP:0001249	Intellectual disability	9949	AMMECR1	OMIM:300990
HP:0001249	Intellectual disability	6134	RPL10	OMIM:300998
HP:0001249	Intellectual disability	1291	COL6A1	OMIM:254090
HP:0001249	Intellectual disability	1292	COL6A2	OMIM:254090
HP:0001249	Intellectual disability	1293	COL6A3	OMIM:254090
HP:0001249	Intellectual disability	160418	TMTC3	OMIM:617255
HP:0001249	Intellectual disability	123606	NIPA1	ORPHA:261183
HP:0001249	Intellectual disability	7283	TUBG1	ORPHA:261183
HP:0001249	Intellectual disability	81614	NIPA2	ORPHA:261183
HP:0001249	Intellectual disability	8473	OGT	OMIM:300997
HP:0001249	Intellectual disability	6418	SET	OMIM:618106
HP:0001249	Intellectual disability	5309	PITX3	OMIM:610623
HP:0001249	Intellectual disability	1120	CHKB	OMIM:602541
HP:0001249	Intellectual disability	7707	ZNF148	OMIM:617260
HP:0001249	Intellectual disability	6299	SALL1	OMIM:107480
HP:0001249	Intellectual disability	6299	SALL1	ORPHA:857
HP:0001249	Intellectual disability	10300	KATNB1	ORPHA:89844
HP:0001249	Intellectual disability	57520	HECW2	OMIM:617268
HP:0001249	Intellectual disability	5053	PAH	OMIM:261600
HP:0001249	Intellectual disability	5053	PAH	ORPHA:2209
HP:0001249	Intellectual disability	4952	OCRL	ORPHA:534
HP:0001249	Intellectual disability	4952	OCRL	OMIM:309000
HP:0001249	Intellectual disability	147409	DSG4	ORPHA:573
HP:0001249	Intellectual disability	3892	KRT86	ORPHA:573
HP:0001249	Intellectual disability	3889	KRT83	ORPHA:573
HP:0001249	Intellectual disability	3887	KRT81	ORPHA:573
HP:0001249	Intellectual disability	55250	ELP2	OMIM:617270
HP:0001249	Intellectual disability	3039	HBA1	ORPHA:98791
HP:0001249	Intellectual disability	3040	HBA2	ORPHA:98791
HP:0001249	Intellectual disability	51132	RLIM	OMIM:300978
HP:0001249	Intellectual disability	27341	RRP7A	OMIM:619453
HP:0001249	Intellectual disability	3376	IARS1	ORPHA:541423
HP:0001249	Intellectual disability	3376	IARS1	OMIM:617093
HP:0001249	Intellectual disability	5077	PAX3	OMIM:148820
HP:0001249	Intellectual disability	5077	PAX3	ORPHA:896
HP:0001249	Intellectual disability	8260	NAA10	ORPHA:568
HP:0001249	Intellectual disability	8260	NAA10	OMIM:309800
HP:0001249	Intellectual disability	80311	KLHL15	OMIM:300982
HP:0001249	Intellectual disability	6557	SLC12A1	OMIM:601678
HP:0001249	Intellectual disability	7809	BSND	OMIM:602522
HP:0001249	Intellectual disability	84892	POMGNT2	OMIM:618135
HP:0001249	Intellectual disability	84892	POMGNT2	ORPHA:899
HP:0001249	Intellectual disability	9758	FRMPD4	OMIM:300983
HP:0001249	Intellectual disability	389856	USP27X	OMIM:300984
HP:0001249	Intellectual disability	3188	HNRNPH2	OMIM:300986
HP:0001249	Intellectual disability	7253	TSHR	OMIM:609152
HP:0001249	Intellectual disability	4548	MTR	OMIM:250940
HP:0001249	Intellectual disability	11212	PLPBP	OMIM:617290
HP:0001249	Intellectual disability	11212	PLPBP	ORPHA:3006
HP:0001249	Intellectual disability	57498	KIDINS220	OMIM:617296
HP:0001249	Intellectual disability	57498	KIDINS220	ORPHA:521390
HP:0001249	Intellectual disability	4625	MYH7	ORPHA:437572
HP:0001249	Intellectual disability	10526	IPO8	OMIM:619472
HP:0001249	Intellectual disability	55651	NHP2	OMIM:224230
HP:0001249	Intellectual disability	55651	NHP2	OMIM:613987
HP:0001249	Intellectual disability	55505	NOP10	OMIM:224230
HP:0001249	Intellectual disability	6711	SPTBN1	OMIM:619475
HP:0001249	Intellectual disability	2317	FLNB	ORPHA:503
HP:0001249	Intellectual disability	2317	FLNB	OMIM:150250
HP:0001249	Intellectual disability	2131	EXT1	ORPHA:502
HP:0001249	Intellectual disability	11198	SUPT16H	OMIM:619480
HP:0001249	Intellectual disability	405753	DUOXA2	OMIM:274900
HP:0001249	Intellectual disability	405753	DUOXA2	ORPHA:95716
HP:0001249	Intellectual disability	136647	MPLKIP	OMIM:234050
HP:0001249	Intellectual disability	374879	ZNF699	OMIM:619488
HP:0001249	Intellectual disability	8567	MADD	OMIM:619005
HP:0001249	Intellectual disability	28952	CCDC22	OMIM:300963
HP:0001249	Intellectual disability	28952	CCDC22	ORPHA:7
HP:0001249	Intellectual disability	79152	FA2H	ORPHA:171629
HP:0001249	Intellectual disability	79152	FA2H	OMIM:612319
HP:0001249	Intellectual disability	9373	PLAA	ORPHA:521426
HP:0001249	Intellectual disability	9373	PLAA	OMIM:617527
HP:0001249	Intellectual disability	1654	DDX3X	OMIM:300958
HP:0001249	Intellectual disability	1654	DDX3X	ORPHA:457260
HP:0001249	Intellectual disability	50485	SMARCAL1	OMIM:242900
HP:0001249	Intellectual disability	4851	NOTCH1	ORPHA:974
HP:0001249	Intellectual disability	57514	ARHGAP31	ORPHA:974
HP:0001249	Intellectual disability	57514	ARHGAP31	OMIM:100300
HP:0001249	Intellectual disability	57572	DOCK6	ORPHA:974
HP:0001249	Intellectual disability	285203	EOGT	ORPHA:974
HP:0001249	Intellectual disability	54567	DLL4	ORPHA:974
HP:0001249	Intellectual disability	407975	MIR17HG	ORPHA:391646
HP:0001249	Intellectual disability	26278	SACS	OMIM:270550
HP:0001249	Intellectual disability	80267	EDEM3	OMIM:619493
HP:0001249	Intellectual disability	2629	GBA1	ORPHA:2072
HP:0001249	Intellectual disability	7157	TP53	OMIM:618165
HP:0001249	Intellectual disability	10491	CRTAP	OMIM:610682
HP:0001249	Intellectual disability	203190	LGI3	OMIM:620007
HP:0001249	Intellectual disability	11043	MID2	OMIM:300928
HP:0001249	Intellectual disability	5468	PPARG	ORPHA:528
HP:0001249	Intellectual disability	284119	CAVIN1	ORPHA:528
HP:0001249	Intellectual disability	2353	FOS	ORPHA:528
HP:0001249	Intellectual disability	857	CAV1	ORPHA:528
HP:0001249	Intellectual disability	9897	WASHC5	ORPHA:7
HP:0001249	Intellectual disability	3030	HADHA	ORPHA:5
HP:0001249	Intellectual disability	114034	TOE1	ORPHA:284339
HP:0001249	Intellectual disability	114034	TOE1	OMIM:614969
HP:0001249	Intellectual disability	9562	MINPP1	ORPHA:284339
HP:0001249	Intellectual disability	84842	HPDL	OMIM:619026
HP:0001249	Intellectual disability	79023	NUP37	OMIM:618179
HP:0001249	Intellectual disability	118429	ANTXR2	OMIM:228600
HP:0001249	Intellectual disability	55294	FBXW7	OMIM:620012
HP:0001249	Intellectual disability	6095	RORA	OMIM:618060
HP:0001249	Intellectual disability	23241	PACS2	OMIM:618067
HP:0001249	Intellectual disability	5009	OTC	OMIM:311250
HP:0001249	Intellectual disability	57539	WDR35	OMIM:613610
HP:0001249	Intellectual disability	80232	WDR26	ORPHA:513456
HP:0001249	Intellectual disability	80232	WDR26	OMIM:617616
HP:0001249	Intellectual disability	51506	UFC1	OMIM:618076
HP:0001249	Intellectual disability	63916	ELMO2	ORPHA:3019
HP:0001249	Intellectual disability	4552	MTRR	ORPHA:2169
HP:0001249	Intellectual disability	1763	DNA2	OMIM:615807
HP:0001249	Intellectual disability	8913	CACNA1G	OMIM:618087
HP:0001249	Intellectual disability	64207	IRF2BPL	OMIM:618088
HP:0001249	Intellectual disability	80204	FBXO11	OMIM:618089
HP:0001249	Intellectual disability	5119	CHMP1A	OMIM:614961
HP:0001249	Intellectual disability	3953	LEPR	OMIM:614963
HP:0001249	Intellectual disability	57531	HACE1	ORPHA:464282
HP:0001249	Intellectual disability	57531	HACE1	OMIM:616756
HP:0001249	Intellectual disability	9839	ZEB2	ORPHA:261552
HP:0001249	Intellectual disability	9839	ZEB2	ORPHA:261537
HP:0001249	Intellectual disability	633	BGN	OMIM:300106
HP:0001249	Intellectual disability	113235	SLC46A1	OMIM:229050
HP:0001249	Intellectual disability	4036	LRP2	ORPHA:2143
HP:0001249	Intellectual disability	3756	KCNH1	ORPHA:3473
HP:0001249	Intellectual disability	3425	IDUA	OMIM:607014
HP:0001249	Intellectual disability	3425	IDUA	OMIM:607016
HP:0001249	Intellectual disability	3425	IDUA	ORPHA:93473
HP:0001249	Intellectual disability	339453	TMEM240	ORPHA:98773
HP:0001249	Intellectual disability	339453	TMEM240	OMIM:607454
HP:0001249	Intellectual disability	1629	DBT	OMIM:248600
HP:0001249	Intellectual disability	593	BCKDHA	OMIM:248600
HP:0001249	Intellectual disability	594	BCKDHB	OMIM:248600
HP:0001249	Intellectual disability	5063	PAK3	OMIM:300558
HP:0001249	Intellectual disability	9508	ADAMTS3	ORPHA:2136
HP:0001249	Intellectual disability	6507	SLC1A3	ORPHA:2131
HP:0001249	Intellectual disability	90624	LYRM7	OMIM:615838
HP:0001249	Intellectual disability	493856	CISD2	ORPHA:3463
HP:0001249	Intellectual disability	7466	WFS1	ORPHA:3463
HP:0001249	Intellectual disability	7466	WFS1	OMIM:222300
HP:0001249	Intellectual disability	54499	TMCO1	OMIM:213980
HP:0001249	Intellectual disability	54499	TMCO1	ORPHA:1394
HP:0001249	Intellectual disability	8242	KDM5C	OMIM:300534
HP:0001249	Intellectual disability	57393	CLTRN	ORPHA:2116
HP:0001249	Intellectual disability	440193	CCDC88C	OMIM:236600
HP:0001249	Intellectual disability	7048	TGFBR2	OMIM:610168
HP:0001249	Intellectual disability	445	ASS1	OMIM:215700
HP:0001249	Intellectual disability	51067	YARS2	ORPHA:2598
HP:0001249	Intellectual disability	8726	EED	ORPHA:3447
HP:0001249	Intellectual disability	8726	EED	OMIM:617561
HP:0001249	Intellectual disability	55023	PHIP	ORPHA:589905
HP:0001249	Intellectual disability	55023	PHIP	OMIM:617991
HP:0001249	Intellectual disability	79228	THOC6	OMIM:613680
HP:0001249	Intellectual disability	51134	CEP83	OMIM:615862
HP:0001249	Intellectual disability	3679	ITGA7	OMIM:613204
HP:0001249	Intellectual disability	8216	LZTR1	OMIM:605275
HP:0001249	Intellectual disability	4976	OPA1	OMIM:210000
HP:0001249	Intellectual disability	54704	PDP1	OMIM:608782
HP:0001249	Intellectual disability	8600	TNFSF11	OMIM:259710
HP:0001249	Intellectual disability	23394	ADNP	OMIM:615873
HP:0001249	Intellectual disability	6948	TCN2	OMIM:275350
HP:0001249	Intellectual disability	79796	ALG9	OMIM:608776
HP:0001249	Intellectual disability	79796	ALG9	ORPHA:79328
HP:0001249	Intellectual disability	1729	DIAPH1	ORPHA:2573
HP:0001249	Intellectual disability	59	ACTA2	ORPHA:2573
HP:0001249	Intellectual disability	57674	RNF213	ORPHA:2573
HP:0001249	Intellectual disability	26115	TANC2	OMIM:618906
HP:0001249	Intellectual disability	55593	OTUD5	OMIM:301056
HP:0001249	Intellectual disability	1822	ATN1	OMIM:125370
HP:0001249	Intellectual disability	1822	ATN1	OMIM:618494
HP:0001249	Intellectual disability	4854	NOTCH3	OMIM:130720
HP:0001249	Intellectual disability	23291	FBXW11	OMIM:618914
HP:0001249	Intellectual disability	54101	RIPK4	ORPHA:1234
HP:0001249	Intellectual disability	998	CDC42	OMIM:616737
HP:0001249	Intellectual disability	998	CDC42	ORPHA:487796
HP:0001249	Intellectual disability	10982	MAPRE2	OMIM:616734
HP:0001249	Intellectual disability	10982	MAPRE2	ORPHA:2505
HP:0001249	Intellectual disability	3176	HNMT	OMIM:616739
HP:0001249	Intellectual disability	2891	GRIA2	OMIM:618917
HP:0001249	Intellectual disability	4131	MAP1B	OMIM:618918
HP:0001249	Intellectual disability	4694	NDUFA1	OMIM:301020
HP:0001249	Intellectual disability	27235	COQ2	OMIM:607426
HP:0001249	Intellectual disability	1778	DYNC1H1	OMIM:614563
HP:0001249	Intellectual disability	5000	ORC4	ORPHA:2554
HP:0001249	Intellectual disability	23594	ORC6	ORPHA:2554
HP:0001249	Intellectual disability	8318	CDC45	ORPHA:2554
HP:0001249	Intellectual disability	990	CDC6	ORPHA:2554
HP:0001249	Intellectual disability	1000	CDH2	OMIM:618929
HP:0001249	Intellectual disability	55764	IFT122	OMIM:218330
HP:0001249	Intellectual disability	54539	NDUFB11	ORPHA:2556
HP:0001249	Intellectual disability	54539	NDUFB11	OMIM:309801
HP:0001249	Intellectual disability	3052	HCCS	ORPHA:2556
HP:0001249	Intellectual disability	3052	HCCS	OMIM:309801
HP:0001249	Intellectual disability	2304	FOXE1	ORPHA:1226
HP:0001249	Intellectual disability	84061	MAGT1	OMIM:301031
HP:0001249	Intellectual disability	10943	MSL3	OMIM:301032
HP:0001249	Intellectual disability	56479	KCNQ5	OMIM:617601
HP:0001249	Intellectual disability	23152	CIC	OMIM:617600
HP:0001249	Intellectual disability	9343	EFTUD2	ORPHA:79113
HP:0001249	Intellectual disability	84172	POLR1B	OMIM:618939
HP:0001249	Intellectual disability	23476	BRD4	ORPHA:199
HP:0001249	Intellectual disability	5885	RAD21	ORPHA:199
HP:0001249	Intellectual disability	157680	VPS13B	ORPHA:193
HP:0001249	Intellectual disability	157680	VPS13B	OMIM:216550
HP:0001249	Intellectual disability	71	ACTG1	OMIM:614583
HP:0001249	Intellectual disability	71	ACTG1	ORPHA:2995
HP:0001249	Intellectual disability	8270	LAGE3	OMIM:301006
HP:0001249	Intellectual disability	2517	FUCA1	OMIM:230000
HP:0001249	Intellectual disability	117581	TWIST2	OMIM:209885
HP:0001249	Intellectual disability	80781	COL18A1	OMIM:267750
HP:0001249	Intellectual disability	63932	STEEP1	OMIM:301013
HP:0001249	Intellectual disability	56910	STARD7	OMIM:607876
HP:0001249	Intellectual disability	26503	SLC17A5	OMIM:604369
HP:0001249	Intellectual disability	1718	DHCR24	ORPHA:35107
HP:0001249	Intellectual disability	114928	GPRASP2	OMIM:301018
HP:0001249	Intellectual disability	92335	STRADA	OMIM:611087
HP:0001249	Intellectual disability	80210	ARMC9	OMIM:617622
HP:0001249	Intellectual disability	80210	ARMC9	ORPHA:475
HP:0001249	Intellectual disability	259266	ASPM	OMIM:608716
HP:0001249	Intellectual disability	7991	TUSC3	OMIM:611093
HP:0001249	Intellectual disability	6651	SON	ORPHA:500150
HP:0001249	Intellectual disability	6651	SON	OMIM:617140
HP:0001249	Intellectual disability	85378	TUBGCP6	ORPHA:2518
HP:0001249	Intellectual disability	85378	TUBGCP6	OMIM:251270
HP:0001249	Intellectual disability	27229	TUBGCP4	ORPHA:2518
HP:0001249	Intellectual disability	9939	RBM8A	OMIM:274000
HP:0001249	Intellectual disability	9451	EIF2AK3	ORPHA:1667
HP:0001249	Intellectual disability	55553	SOX6	OMIM:618971
HP:0001249	Intellectual disability	1968	EIF2S3	OMIM:300148
HP:0001249	Intellectual disability	1804	DPP6	OMIM:616311
HP:0001249	Intellectual disability	8398	PLA2G6	OMIM:256600
HP:0001249	Intellectual disability	55367	PIDD1	OMIM:619827
HP:0001249	Intellectual disability	8942	KYNU	ORPHA:79155
HP:0001249	Intellectual disability	1281	COL3A1	ORPHA:2500
HP:0001249	Intellectual disability	64682	ANAPC1	ORPHA:221008
HP:0001249	Intellectual disability	8912	CACNA1H	ORPHA:64280
HP:0001249	Intellectual disability	104	ADARB1	OMIM:618862
HP:0001249	Intellectual disability	9524	TECR	OMIM:614020
HP:0001249	Intellectual disability	2895	GRID2	OMIM:616204
HP:0001249	Intellectual disability	6016	RIT1	OMIM:615355
HP:0001249	Intellectual disability	51126	NAA20	OMIM:619717
HP:0001249	Intellectual disability	3008	H1-4	OMIM:617537
HP:0001249	Intellectual disability	3891	KRT85	OMIM:602032
HP:0001249	Intellectual disability	347733	TUBB2B	ORPHA:1766
HP:0001249	Intellectual disability	347733	TUBB2B	ORPHA:300573
HP:0001249	Intellectual disability	347733	TUBB2B	OMIM:610031
HP:0001249	Intellectual disability	124997	WDR81	ORPHA:1766
HP:0001249	Intellectual disability	116931	MED12L	OMIM:618872
HP:0001249	Intellectual disability	387119	CEP85L	OMIM:618873
HP:0001249	Intellectual disability	10381	TUBB3	OMIM:614039
HP:0001249	Intellectual disability	10381	TUBB3	ORPHA:300570
HP:0001249	Intellectual disability	3781	KCNN2	OMIM:619725
HP:0001249	Intellectual disability	83696	TRAPPC9	OMIM:613192
HP:0001249	Intellectual disability	9469	CHST3	OMIM:143095
HP:0001249	Intellectual disability	9692	PRORP	OMIM:619737
HP:0001249	Intellectual disability	4853	NOTCH2	OMIM:102500
HP:0001249	Intellectual disability	51319	RSRC1	OMIM:618402
HP:0001249	Intellectual disability	7920	ABHD16A	OMIM:619735
HP:0001249	Intellectual disability	23761	PISD	OMIM:618889
HP:0001249	Intellectual disability	10715	CERS1	OMIM:616230
HP:0001249	Intellectual disability	5442	POLRMT	OMIM:619743
HP:0001249	Intellectual disability	4297	KMT2A	ORPHA:319182
HP:0001249	Intellectual disability	4297	KMT2A	OMIM:605130
HP:0001249	Intellectual disability	514	ATP5F1E	OMIM:614053
HP:0001249	Intellectual disability	84314	TMEM107	OMIM:617562
HP:0001249	Intellectual disability	64132	XYLT2	ORPHA:85194
HP:0001249	Intellectual disability	79158	GNPTAB	OMIM:252600
HP:0001249	Intellectual disability	79600	TCTN1	ORPHA:475
HP:0001249	Intellectual disability	200894	ARL13B	ORPHA:475
HP:0001249	Intellectual disability	200894	ARL13B	OMIM:612291
HP:0001249	Intellectual disability	219844	HYLS1	ORPHA:475
HP:0001249	Intellectual disability	23247	KATNIP	ORPHA:475
HP:0001249	Intellectual disability	219854	TMEM218	ORPHA:475
HP:0001249	Intellectual disability	9786	KIAA0586	ORPHA:475
HP:0001249	Intellectual disability	79867	TCTN2	ORPHA:475
HP:0001249	Intellectual disability	80776	B9D2	ORPHA:475
HP:0001249	Intellectual disability	10464	PIBF1	ORPHA:475
HP:0001249	Intellectual disability	23116	TOGARAM1	ORPHA:475
HP:0001249	Intellectual disability	25776	CBY1	ORPHA:475
HP:0001249	Intellectual disability	27077	B9D1	ORPHA:475
HP:0001249	Intellectual disability	27077	B9D1	OMIM:617120
HP:0001249	Intellectual disability	1789	DNMT3B	OMIM:242860
HP:0001249	Intellectual disability	1789	DNMT3B	ORPHA:2268
HP:0001249	Intellectual disability	9056	SLC7A7	ORPHA:470
HP:0001249	Intellectual disability	9056	SLC7A7	OMIM:222700
HP:0001249	Intellectual disability	51604	PIGT	OMIM:615398
HP:0001249	Intellectual disability	84504	NKX6-2	ORPHA:527497
HP:0001249	Intellectual disability	8363	H4C11	OMIM:619759
HP:0001249	Intellectual disability	9841	ZBTB24	OMIM:614069
HP:0001249	Intellectual disability	9841	ZBTB24	ORPHA:2268
HP:0001249	Intellectual disability	7701	ZNF142	OMIM:618425
HP:0001249	Intellectual disability	8364	H4C3	OMIM:619758
HP:0001249	Intellectual disability	145258	GSC	OMIM:602471
HP:0001249	Intellectual disability	85365	ALG2	ORPHA:79326
HP:0001249	Intellectual disability	8314	BAP1	OMIM:619762
HP:0001249	Intellectual disability	53335	BCL11A	OMIM:617101
HP:0001249	Intellectual disability	59336	PRDM13	OMIM:619761
HP:0001249	Intellectual disability	9993	DGCR2	OMIM:192430
HP:0001249	Intellectual disability	8220	ESS2	OMIM:192430
HP:0001249	Intellectual disability	8214	DGCR6	OMIM:192430
HP:0001249	Intellectual disability	54487	DGCR8	OMIM:192430
HP:0001249	Intellectual disability	11261	CHP1	OMIM:618438
HP:0001249	Intellectual disability	51341	ZBTB7A	OMIM:619769
HP:0001249	Intellectual disability	2729	GCLC	ORPHA:33574
HP:0001249	Intellectual disability	9338	TCEAL1	OMIM:301094
HP:0001249	Intellectual disability	2556	GABRA3	OMIM:301091
HP:0001249	Intellectual disability	5373	PMM2	ORPHA:79318
HP:0001249	Intellectual disability	4351	MPI	ORPHA:79319
HP:0001249	Intellectual disability	7030	TFE3	OMIM:301066
HP:0001249	Intellectual disability	23162	MAPK8IP3	OMIM:618443
HP:0001249	Intellectual disability	3978	LIG1	OMIM:619774
HP:0001249	Intellectual disability	4123	MAN2C1	OMIM:619775
HP:0001249	Intellectual disability	54941	RNF125	OMIM:616260
HP:0001249	Intellectual disability	4099	MAG	ORPHA:459056
HP:0001249	Intellectual disability	7994	KAT6A	OMIM:616268
HP:0001249	Intellectual disability	23219	FBXO28	OMIM:619777
HP:0001249	Intellectual disability	79087	ALG12	ORPHA:79324
HP:0001249	Intellectual disability	6528	SLC5A5	OMIM:274400
HP:0001249	Intellectual disability	6528	SLC5A5	ORPHA:95716
HP:0001249	Intellectual disability	257	ALX3	OMIM:136760
HP:0001249	Intellectual disability	9896	FIG4	ORPHA:208441
HP:0001249	Intellectual disability	8295	TRRAP	OMIM:618454
HP:0001249	Intellectual disability	79882	ZC3H14	OMIM:617125
HP:0001249	Intellectual disability	5256	PHKA2	ORPHA:264580
HP:0001249	Intellectual disability	5261	PHKG2	ORPHA:264580
HP:0001249	Intellectual disability	6878	TAF6	OMIM:617126
HP:0001249	Intellectual disability	5062	PAK2	OMIM:618458
HP:0001249	Intellectual disability	84706	GPT2	OMIM:616281
HP:0001249	Intellectual disability	84706	GPT2	ORPHA:477673
HP:0001249	Intellectual disability	5898	RALA	OMIM:619311
HP:0001249	Intellectual disability	203547	VMA21	OMIM:310440
HP:0001249	Intellectual disability	4143	MAT1A	OMIM:250850
HP:0001249	Intellectual disability	1436	CSF1R	OMIM:618476
HP:0001249	Intellectual disability	2623	GATA1	OMIM:190685
HP:0001249	Intellectual disability	29998	BICRA	OMIM:619325
HP:0001249	Intellectual disability	10978	CLP1	ORPHA:411493
HP:0001249	Intellectual disability	23030	KDM4B	OMIM:619320
HP:0001249	Intellectual disability	1363	CPE	OMIM:619326
HP:0001249	Intellectual disability	10329	RXYLT1	ORPHA:899
HP:0001249	Intellectual disability	11041	B4GAT1	ORPHA:899
HP:0001249	Intellectual disability	28982	FLVCR1	ORPHA:88628
HP:0001249	Intellectual disability	28982	FLVCR1	OMIM:609033
HP:0001249	Intellectual disability	4621	MYH3	OMIM:193700
HP:0001249	Intellectual disability	23221	RHOBTB2	OMIM:618004
HP:0001249	Intellectual disability	2530	FUT8	OMIM:618005
HP:0001249	Intellectual disability	4128	MAOA	OMIM:300615
HP:0001249	Intellectual disability	79641	ROGDI	OMIM:226750
HP:0001249	Intellectual disability	1108	CHD4	OMIM:617159
HP:0001249	Intellectual disability	4000	LMNA	OMIM:212112
HP:0001249	Intellectual disability	4000	LMNA	ORPHA:98855
HP:0001249	Intellectual disability	4000	LMNA	ORPHA:98853
HP:0001249	Intellectual disability	5903	RANBP2	ORPHA:88619
HP:0001249	Intellectual disability	372	ARCN1	OMIM:617164
HP:0001249	Intellectual disability	3977	LIFR	OMIM:601559
HP:0001249	Intellectual disability	2628	GATM	OMIM:612718
HP:0001249	Intellectual disability	4882	NPR2	OMIM:602875
HP:0001249	Intellectual disability	10681	GNB5	OMIM:617173
HP:0001249	Intellectual disability	10681	GNB5	OMIM:617182
HP:0001249	Intellectual disability	26005	C2CD3	ORPHA:434179
HP:0001249	Intellectual disability	440138	ALG11	ORPHA:280071
HP:0001249	Intellectual disability	79143	MBOAT7	OMIM:617188
HP:0001249	Intellectual disability	498	ATP5F1A	OMIM:620358
HP:0001249	Intellectual disability	51339	DACT1	ORPHA:857
HP:0001249	Intellectual disability	2593	GAMT	OMIM:612736
HP:0001249	Intellectual disability	627	BDNF	ORPHA:893
HP:0001249	Intellectual disability	55252	ASXL2	OMIM:617190
HP:0001249	Intellectual disability	23154	NCDN	OMIM:619373
HP:0001249	Intellectual disability	10295	BCKDK	OMIM:614923
HP:0001249	Intellectual disability	55074	OXR1	OMIM:213000
HP:0001249	Intellectual disability	5076	PAX2	OMIM:120330
HP:0001249	Intellectual disability	11011	TLK2	OMIM:618050
HP:0001249	Intellectual disability	389434	IYD	OMIM:274800
HP:0001249	Intellectual disability	389434	IYD	ORPHA:95716
HP:0001249	Intellectual disability	27072	VPS41	OMIM:619389
HP:0001249	Intellectual disability	221927	BRAT1	OMIM:618056
HP:0001249	Intellectual disability	11113	CIT	OMIM:617090
HP:0001249	Intellectual disability	6834	SURF1	OMIM:220110
HP:0001249	Intellectual disability	6834	SURF1	ORPHA:70474
HP:0001249	Intellectual disability	132158	GLYCTK	ORPHA:941
HP:0001249	Intellectual disability	132158	GLYCTK	OMIM:220120
HP:0001249	Intellectual disability	23118	TAB2	ORPHA:228410
HP:0001249	Intellectual disability	8443	GNPAT	OMIM:222765
HP:0001249	Intellectual disability	9442	MED27	OMIM:619286
HP:0001249	Intellectual disability	1146	CHRNG	OMIM:265000
HP:0001249	Intellectual disability	7102	TSPAN7	OMIM:300210
HP:0001249	Intellectual disability	3899	AFF3	OMIM:619297
HP:0001249	Intellectual disability	8131	NPRL3	ORPHA:98820
HP:0001249	Intellectual disability	10641	NPRL2	ORPHA:98820
HP:0001249	Intellectual disability	649	BMP1	OMIM:614856
HP:0001249	Intellectual disability	1727	CYB5R3	OMIM:250800
HP:0001249	Intellectual disability	197257	LDHD	OMIM:245450
HP:0001249	Intellectual disability	1857	DVL3	ORPHA:3107
HP:0001249	Intellectual disability	2535	FZD2	ORPHA:3107
HP:0001249	Intellectual disability	5828	PEX2	OMIM:614866
HP:0001249	Intellectual disability	540	ATP7B	ORPHA:905
HP:0001249	Intellectual disability	2627	GATA6	ORPHA:2255
HP:0001249	Intellectual disability	6804	STX1A	ORPHA:904
HP:0001249	Intellectual disability	7461	CLIP2	ORPHA:904
HP:0001249	Intellectual disability	84277	DNAJC30	ORPHA:904
HP:0001249	Intellectual disability	8468	FKBP6	ORPHA:904
HP:0001249	Intellectual disability	5982	RFC2	ORPHA:904
HP:0001249	Intellectual disability	2969	GTF2I	ORPHA:904
HP:0001249	Intellectual disability	3984	LIMK1	ORPHA:904
HP:0001249	Intellectual disability	9569	GTF2IRD1	ORPHA:904
HP:0001249	Intellectual disability	155382	VPS37D	ORPHA:904
HP:0001249	Intellectual disability	155368	METTL27	ORPHA:904
HP:0001249	Intellectual disability	114049	BUD23	ORPHA:904
HP:0001249	Intellectual disability	7458	EIF4H	ORPHA:904
HP:0001249	Intellectual disability	84163	GTF2IRD2	ORPHA:904
HP:0001249	Intellectual disability	9275	BCL7B	ORPHA:904
HP:0001249	Intellectual disability	26608	TBL2	ORPHA:904
HP:0001249	Intellectual disability	653361	NCF1	ORPHA:904
HP:0001249	Intellectual disability	135886	TMEM270	ORPHA:904
HP:0001249	Intellectual disability	9031	BAZ1B	ORPHA:904
HP:0001249	Intellectual disability	6329	SCN4A	ORPHA:99735
HP:0001249	Intellectual disability	5297	PI4KA	ORPHA:98889
HP:0001249	Intellectual disability	5297	PI4KA	OMIM:619708
HP:0001249	Intellectual disability	78989	COLEC11	OMIM:265050
HP:0001249	Intellectual disability	78989	COLEC11	ORPHA:293843
HP:0001249	Intellectual disability	728294	D2HGDH	OMIM:600721
HP:0001249	Intellectual disability	6628	SNRPB	ORPHA:1393
HP:0001249	Intellectual disability	6628	SNRPB	OMIM:117650
HP:0001249	Intellectual disability	2548	GAA	ORPHA:308552
HP:0001249	Intellectual disability	9409	PEX16	OMIM:614877
HP:0001249	Intellectual disability	5295	PIK3R1	OMIM:269880
HP:0001249	Intellectual disability	9928	KIF14	OMIM:617914
HP:0001249	Intellectual disability	63901	FAM111A	OMIM:127000
HP:0001249	Intellectual disability	1487	CTBP1	OMIM:617915
HP:0001249	Intellectual disability	2273	FHL1	ORPHA:98863
HP:0001249	Intellectual disability	2273	FHL1	OMIM:300280
HP:0001249	Intellectual disability	2010	EMD	ORPHA:98863
HP:0001249	Intellectual disability	57094	CPA6	OMIM:614417
HP:0001249	Intellectual disability	79188	TMEM43	ORPHA:98853
HP:0001249	Intellectual disability	23224	SYNE2	ORPHA:98853
HP:0001249	Intellectual disability	6309	SC5D	OMIM:607330
HP:0001249	Intellectual disability	4683	NBN	OMIM:251260
HP:0001249	Intellectual disability	9698	PUM1	OMIM:617931
HP:0001249	Intellectual disability	27249	MMADHC	OMIM:277410
HP:0001249	Intellectual disability	27249	MMADHC	ORPHA:79283
HP:0001249	Intellectual disability	3033	HADH	OMIM:609975
HP:0001249	Intellectual disability	101929726	MYMX	ORPHA:1358
HP:0001249	Intellectual disability	8671	SLC4A4	OMIM:604278
HP:0001249	Intellectual disability	51116	MRPS2	OMIM:617950
HP:0001249	Intellectual disability	9512	PMPCB	OMIM:617954
HP:0001249	Intellectual disability	7173	TPO	ORPHA:95716
HP:0001249	Intellectual disability	50506	DUOX2	ORPHA:95716
HP:0001249	Intellectual disability	5605	MAP2K2	ORPHA:1340
HP:0001249	Intellectual disability	686	BTD	ORPHA:79241
HP:0001249	Intellectual disability	3549	IHH	OMIM:607778
HP:0001249	Intellectual disability	338917	VSX2	OMIM:610093
HP:0001249	Intellectual disability	54664	TMEM106B	OMIM:617964
HP:0001249	Intellectual disability	54658	UGT1A1	ORPHA:79234
HP:0001249	Intellectual disability	2584	GALK1	ORPHA:79237
HP:0001249	Intellectual disability	51128	SAR1B	OMIM:246700
HP:0001249	Intellectual disability	6505	SLC1A1	OMIM:222730
HP:0001249	Intellectual disability	57468	SLC12A5	OMIM:616645
HP:0001249	Intellectual disability	2643	GCH1	ORPHA:98808
HP:0001249	Intellectual disability	3615	IMPDH2	ORPHA:98808
HP:0001249	Intellectual disability	2588	GALNS	OMIM:253000
HP:0001249	Intellectual disability	4337	MOCS1	OMIM:252150
HP:0001249	Intellectual disability	8405	SPOP	OMIM:618828
HP:0001249	Intellectual disability	8405	SPOP	OMIM:618829
HP:0001249	Intellectual disability	7507	XPA	OMIM:278700
HP:0001249	Intellectual disability	25915	NDUFAF3	ORPHA:70474
HP:0001249	Intellectual disability	4714	NDUFB8	ORPHA:70474
HP:0001249	Intellectual disability	4720	NDUFS2	ORPHA:70474
HP:0001249	Intellectual disability	9997	SCO2	ORPHA:70474
HP:0001249	Intellectual disability	151	ADRA2B	ORPHA:86814
HP:0001249	Intellectual disability	1501	CTNND2	ORPHA:86814
HP:0001249	Intellectual disability	10299	MARCHF6	ORPHA:86814
HP:0001249	Intellectual disability	6900	CNTN2	ORPHA:86814
HP:0001249	Intellectual disability	51305	KCNK9	OMIM:612292
HP:0001249	Intellectual disability	54870	QRICH1	OMIM:617982
HP:0001249	Intellectual disability	54676	GTPBP2	OMIM:617988
HP:0001249	Intellectual disability	51780	KDM3B	OMIM:618846
HP:0001249	Intellectual disability	10312	TCIRG1	ORPHA:1782
HP:0001249	Intellectual disability	8792	TNFRSF11A	ORPHA:1782
HP:0001249	Intellectual disability	25974	MMACHC	ORPHA:79282
HP:0001249	Intellectual disability	25974	MMACHC	OMIM:277400
HP:0001249	Intellectual disability	63929	XPNPEP3	OMIM:613159
HP:0001249	Intellectual disability	55788	LMBRD1	ORPHA:79284
HP:0001249	Intellectual disability	10225	CD96	ORPHA:1308
HP:0001249	Intellectual disability	1807	DPYS	OMIM:222748
HP:0001249	Intellectual disability	6223	RPS19	OMIM:105650
HP:0001249	Intellectual disability	9130	FAM50A	OMIM:300261
HP:0001249	Intellectual disability	64072	CDH23	ORPHA:231169
HP:0001249	Intellectual disability	10083	USH1C	ORPHA:231169
HP:0001249	Intellectual disability	124590	USH1G	ORPHA:231169
HP:0001249	Intellectual disability	83715	ESPN	ORPHA:231169
HP:0001249	Intellectual disability	10518	CIB2	ORPHA:231169
HP:0001249	Intellectual disability	4647	MYO7A	ORPHA:231169
HP:0001249	Intellectual disability	65217	PCDH15	ORPHA:231169
HP:0001249	Intellectual disability	51733	UPB1	OMIM:613161
HP:0001249	Intellectual disability	8738	CRADD	OMIM:614499
HP:0001249	Intellectual disability	4858	NOVA2	OMIM:618859
HP:0001249	Intellectual disability	9181	ARHGEF2	OMIM:617523
HP:0001249	Intellectual disability	5052	PRDX1	OMIM:277400
HP:0001249	Intellectual disability	2582	GALE	OMIM:230350
HP:0001249	Intellectual disability	10749	KIF1C	ORPHA:397946
HP:0001249	Intellectual disability	85465	SELENOI	ORPHA:506353
HP:0001249	Intellectual disability	85465	SELENOI	OMIM:618768
HP:0001249	Intellectual disability	7528	YY1	ORPHA:506358
HP:0001249	Intellectual disability	29899	GPSM2	OMIM:604213
HP:0001249	Intellectual disability	11253	MAN1B1	ORPHA:397941
HP:0001249	Intellectual disability	55703	POLR3B	OMIM:614381
HP:0001249	Intellectual disability	51256	TBC1D7	OMIM:248000
HP:0001249	Intellectual disability	3094	HINT1	ORPHA:324442
HP:0001249	Intellectual disability	29925	GMPPB	OMIM:615352
HP:0001249	Intellectual disability	29925	GMPPB	ORPHA:370959
HP:0001249	Intellectual disability	1161	ERCC8	ORPHA:90324
HP:0001249	Intellectual disability	2074	ERCC6	ORPHA:90324
HP:0001249	Intellectual disability	7021	TFAP2B	OMIM:169100
HP:0001249	Intellectual disability	26040	SETBP1	ORPHA:436151
HP:0001249	Intellectual disability	1788	DNMT3A	ORPHA:404443
HP:0001249	Intellectual disability	5457	POU4F1	ORPHA:314647
HP:0001249	Intellectual disability	23261	CAMTA1	ORPHA:314647
HP:0001249	Intellectual disability	23261	CAMTA1	OMIM:614756
HP:0001249	Intellectual disability	10084	PQBP1	ORPHA:93950
HP:0001249	Intellectual disability	10084	PQBP1	ORPHA:93945
HP:0001249	Intellectual disability	4125	MAN2B1	ORPHA:309282
HP:0001249	Intellectual disability	4125	MAN2B1	ORPHA:309288
HP:0001249	Intellectual disability	4522	MTHFD1	OMIM:617780
HP:0001249	Intellectual disability	2737	GLI3	ORPHA:380
HP:0001249	Intellectual disability	2737	GLI3	OMIM:175700
HP:0001249	Intellectual disability	5917	RARS1	ORPHA:438114
HP:0001249	Intellectual disability	5917	RARS1	OMIM:616140
HP:0001249	Intellectual disability	8309	ACOX2	OMIM:617308
HP:0001249	Intellectual disability	6595	SMARCA2	ORPHA:2728
HP:0001249	Intellectual disability	2132	EXT2	ORPHA:466926
HP:0001249	Intellectual disability	57156	TMEM63C	OMIM:619966
HP:0001249	Intellectual disability	1476	CSTB	OMIM:254800
HP:0001249	Intellectual disability	3764	KCNJ8	ORPHA:1517
HP:0001249	Intellectual disability	10060	ABCC9	ORPHA:1517
HP:0001249	Intellectual disability	10060	ABCC9	OMIM:239850
HP:0001249	Intellectual disability	7086	TKT	ORPHA:488618
HP:0001249	Intellectual disability	488	ATP2A2	OMIM:124200
HP:0001249	Intellectual disability	90	ACVR1	OMIM:135100
HP:0001249	Intellectual disability	84572	GNPTG	OMIM:252605
HP:0001249	Intellectual disability	54	ACP5	OMIM:607944
HP:0001249	Intellectual disability	80153	EDC3	OMIM:616460
HP:0001249	Intellectual disability	284058	KANSL1	ORPHA:363958
HP:0001249	Intellectual disability	284058	KANSL1	ORPHA:363965
HP:0001249	Intellectual disability	55154	MSTO1	OMIM:617675
HP:0001249	Intellectual disability	55154	MSTO1	ORPHA:502423
HP:0001249	Intellectual disability	6884	TAF13	OMIM:617432
HP:0001249	Intellectual disability	10939	AFG3L2	ORPHA:313772
HP:0001249	Intellectual disability	2626	GATA4	ORPHA:251071
HP:0001249	Intellectual disability	7020	TFAP2A	OMIM:113620
HP:0001249	Intellectual disability	1605	DAG1	ORPHA:280333
HP:0001249	Intellectual disability	833	CARS1	OMIM:618891
HP:0001249	Intellectual disability	80208	SPG11	ORPHA:2822
HP:0001249	Intellectual disability	200734	SPRED2	OMIM:619745
HP:0001249	Intellectual disability	79731	NARS2	OMIM:616239
HP:0001249	Intellectual disability	2316	FLNA	ORPHA:90650
HP:0001249	Intellectual disability	2316	FLNA	OMIM:311300
HP:0001249	Intellectual disability	2316	FLNA	OMIM:300049
HP:0001249	Intellectual disability	5192	PEX10	ORPHA:247815
HP:0001249	Intellectual disability	81794	ADAMTS10	OMIM:277600
HP:0001249	Intellectual disability	81794	ADAMTS10	ORPHA:3449
HP:0001249	Intellectual disability	63895	PIEZO2	OMIM:114300
HP:0001249	Intellectual disability	55280	CWF19L1	OMIM:616127
HP:0001249	Intellectual disability	79633	FAT4	OMIM:616006
HP:0001249	Intellectual disability	54902	TTC19	OMIM:615157
HP:0001249	Intellectual disability	5354	PLP1	ORPHA:280219
HP:0001249	Intellectual disability	5354	PLP1	OMIM:312920
HP:0001249	Intellectual disability	56052	ALG1	ORPHA:79327
HP:0001249	Intellectual disability	10908	PNPLA6	OMIM:215470
HP:0001249	Intellectual disability	10021	HCN4	OMIM:619521
HP:0001249	Intellectual disability	1615	DARS1	OMIM:615281
HP:0001249	Intellectual disability	7750	ZMYM2	OMIM:619522
HP:0001249	Intellectual disability	8733	GPAA1	ORPHA:529665
HP:0001249	Intellectual disability	27086	FOXP1	ORPHA:391372
HP:0001249	Intellectual disability	6942	TCF20	OMIM:618430
HP:0001249	Intellectual disability	2720	GLB1	OMIM:230650
HP:0001249	Intellectual disability	9158	FIBP	OMIM:617107
HP:0001249	Intellectual disability	641	BLM	OMIM:210900
HP:0001249	Intellectual disability	2263	FGFR2	ORPHA:168624
HP:0001249	Intellectual disability	10531	PITRM1	OMIM:619405
HP:0001249	Intellectual disability	57492	ARID1B	ORPHA:251056
HP:0001249	Intellectual disability	10743	RAI1	ORPHA:1713
HP:0001249	Intellectual disability	38	ACAT1	ORPHA:134
HP:0001249	Intellectual disability	51062	ATL1	OMIM:182600
HP:0001249	Intellectual disability	51322	WAC	ORPHA:466950
HP:0001249	Intellectual disability	2072	ERCC4	OMIM:610965
HP:0001249	Intellectual disability	178	AGL	ORPHA:366
HP:0001249	Intellectual disability	2742	GLRA2	OMIM:301076
HP:0001249	Intellectual disability	25970	SH2B1	ORPHA:261197
HP:0001249	Intellectual disability	9742	IFT140	OMIM:266920
HP:0001249	Intellectual disability	5111	PCNA	ORPHA:438134
HP:0001249	Intellectual disability	60529	ALX4	ORPHA:228390
HP:0001249	Intellectual disability	2583	B4GALNT1	OMIM:609195
HP:0001249	Intellectual disability	3242	HPD	OMIM:276710
HP:0001249	Intellectual disability	3242	HPD	OMIM:140350
HP:0001249	Intellectual disability	8905	AP1S2	OMIM:304340
HP:0001249	Intellectual disability	2902	GRIN1	ORPHA:208447
HP:0001249	Intellectual disability	54808	DYM	ORPHA:239
HP:0001249	Intellectual disability	3479	IGF1	ORPHA:73272
HP:0001249	Intellectual disability	57526	PCDH19	ORPHA:101039
HP:0001249	Intellectual disability	23111	SPART	OMIM:275900
HP:0001249	Intellectual disability	3155	HMGCL	ORPHA:20
HP:0001249	Intellectual disability	388015	RTL1	ORPHA:254534
HP:0001249	Intellectual disability	8788	DLK1	ORPHA:254534
HP:0001249	Intellectual disability	55384	MEG3	ORPHA:254534
HP:0001249	Intellectual disability	10466	COG5	ORPHA:263487
HP:0001249	Intellectual disability	1859	DYRK1A	ORPHA:268261
HP:0001249	Intellectual disability	6885	MAP3K7	OMIM:617137
HP:0001249	Intellectual disability	1756	DMD	OMIM:310200
HP:0001249	Intellectual disability	9256	TSPOAP1	ORPHA:101150
HP:0001249	Intellectual disability	7054	TH	ORPHA:101150
HP:0001249	Intellectual disability	170302	ARX	ORPHA:94083
HP:0001249	Intellectual disability	4568	MT-TL2	ORPHA:663
HP:0001249	Intellectual disability	4567	MT-TL1	ORPHA:663
HP:0001249	Intellectual disability	4570	MT-TN	ORPHA:663
HP:0001249	Intellectual disability	4574	MT-TS1	ORPHA:663
HP:0001249	Intellectual disability	6792	CDKL5	ORPHA:3095
HP:0001249	Intellectual disability	22854	NTNG1	ORPHA:3095
HP:0001249	Intellectual disability	9568	GABBR2	ORPHA:3095
HP:0001249	Intellectual disability	4204	MECP2	ORPHA:3095
HP:0001249	Intellectual disability	4204	MECP2	OMIM:300055
HP:0001249	Intellectual disability	8243	SMC1A	ORPHA:3095
HP:0001249	Intellectual disability	2972	BRF1	ORPHA:444072
HP:0001249	Intellectual disability	23102	TBC1D2B	OMIM:619323
HP:0001249	Intellectual disability	23102	TBC1D2B	ORPHA:397973
HP:0001249	Intellectual disability	56521	DNAJC12	OMIM:617384
HP:0001249	Intellectual disability	100151683	RNU4ATAC	OMIM:226960
HP:0001249	Intellectual disability	100151683	RNU4ATAC	OMIM:616651
HP:0001249	Intellectual disability	3714	JAG2	OMIM:619566
HP:0001249	Intellectual disability	51119	SBDS	OMIM:260400
HP:0001249	Intellectual disability	134218	DNAJC21	OMIM:260400
HP:0001249	Intellectual disability	6729	SRP54	OMIM:260400
HP:0001249	Intellectual disability	4041	LRP5	OMIM:259770
HP:0001249	Intellectual disability	4041	LRP5	ORPHA:891
HP:0001249	Intellectual disability	8888	MCM3AP	OMIM:618124
HP:0001249	Intellectual disability	51473	DCDC2	OMIM:617394
HP:0001249	Intellectual disability	537	ATP6AP1	OMIM:300972
HP:0001249	Intellectual disability	4998	ORC1	OMIM:224690
HP:0001249	Intellectual disability	54496	PRMT7	OMIM:617157
HP:0001249	Intellectual disability	54496	PRMT7	ORPHA:464288
HP:0001249	Intellectual disability	2664	GDI1	OMIM:300849
HP:0001249	Intellectual disability	201163	FLCN	OMIM:610883
HP:0001249	Intellectual disability	116442	RAB39B	OMIM:311510
HP:0001249	Intellectual disability	1312	COMT	ORPHA:567
HP:0001249	Intellectual disability	221037	JMJD1C	ORPHA:567
HP:0001249	Intellectual disability	2812	GP1BB	ORPHA:567
HP:0001249	Intellectual disability	6239	RREB1	ORPHA:567
HP:0001249	Intellectual disability	6899	TBX1	ORPHA:567
HP:0001249	Intellectual disability	7290	HIRA	ORPHA:567
HP:0001249	Intellectual disability	9632	SEC24C	ORPHA:567
HP:0001249	Intellectual disability	7353	UFD1	ORPHA:567
HP:0001249	Intellectual disability	421	ARVCF	ORPHA:567
HP:0001249	Intellectual disability	1009	CDH11	OMIM:211380
HP:0001249	Intellectual disability	1137	CHRNA4	ORPHA:98784
HP:0001249	Intellectual disability	1135	CHRNA2	ORPHA:98784
HP:0001249	Intellectual disability	57010	CABP4	ORPHA:98784
HP:0001249	Intellectual disability	1141	CHRNB2	ORPHA:98784
HP:0001249	Intellectual disability	57582	KCNT1	ORPHA:98784
HP:0001249	Intellectual disability	1392	CRH	ORPHA:98784
HP:0001249	Intellectual disability	9681	DEPDC5	ORPHA:98784
HP:0001249	Intellectual disability	8091	HMGA2	ORPHA:94063
HP:0001249	Intellectual disability	23592	LEMD3	ORPHA:94063
HP:0001249	Intellectual disability	10013	HDAC6	OMIM:300863
HP:0001249	Intellectual disability	10013	HDAC6	ORPHA:163966
HP:0001249	Intellectual disability	9757	KMT2B	OMIM:617284
HP:0001249	Intellectual disability	4613	MYCN	OMIM:164280
HP:0001249	Intellectual disability	57187	THOC2	ORPHA:457240
HP:0001249	Intellectual disability	9401	RECQL4	OMIM:266280
HP:0001249	Intellectual disability	55186	SLC25A36	OMIM:620211
HP:0001249	Intellectual disability	3251	HPRT1	ORPHA:510
HP:0001249	Intellectual disability	10771	ZMYND11	OMIM:616083
HP:0001249	Intellectual disability	6611	SMS	ORPHA:3063
HP:0001249	Intellectual disability	1021	CDK6	OMIM:616080
HP:0001249	Intellectual disability	55213	RCBTB1	OMIM:617175
HP:0001249	Intellectual disability	29957	SLC25A24	ORPHA:2095
HP:0001249	Intellectual disability	2892	GRIA3	ORPHA:364028
HP:0001249	Intellectual disability	8452	CUL3	OMIM:619239
HP:0001249	Intellectual disability	92935	MARS2	ORPHA:314603
HP:0001249	Intellectual disability	246329	STAC3	ORPHA:168572
HP:0001249	Intellectual disability	5781	PTPN11	ORPHA:500
HP:0001249	Intellectual disability	5781	PTPN11	OMIM:151100
HP:0001249	Intellectual disability	673	BRAF	ORPHA:500
HP:0001249	Intellectual disability	5894	RAF1	ORPHA:500
HP:0001249	Intellectual disability	79147	FKRP	ORPHA:370959
HP:0001249	Intellectual disability	29954	POMT2	ORPHA:370959
HP:0001249	Intellectual disability	55624	POMGNT1	ORPHA:370959
HP:0001249	Intellectual disability	10585	POMT1	ORPHA:370959
HP:0001249	Intellectual disability	23067	SETD1B	OMIM:619000
HP:0001249	Intellectual disability	6197	RPS6KA3	OMIM:300844
HP:0001249	Intellectual disability	288	ANK3	ORPHA:356996
HP:0001249	Intellectual disability	55717	WDR11	OMIM:620237
HP:0001249	Intellectual disability	84905	ZNF341	OMIM:618282
HP:0001249	Intellectual disability	4693	NDP	ORPHA:891
HP:0001249	Intellectual disability	1499	CTNNB1	ORPHA:891
HP:0001249	Intellectual disability	23554	TSPAN12	ORPHA:891
HP:0001249	Intellectual disability	79797	ZNF408	ORPHA:891
HP:0001249	Intellectual disability	8322	FZD4	ORPHA:891
HP:0001249	Intellectual disability	4508	MT-ATP6	ORPHA:225154
HP:0001249	Intellectual disability	23636	NUP62	ORPHA:225154
HP:0001249	Intellectual disability	103	ADAR	ORPHA:225154
HP:0001249	Intellectual disability	4256	MGP	OMIM:245150
HP:0001249	Intellectual disability	4256	MGP	ORPHA:85202
HP:0001249	Intellectual disability	2332	FMR1	ORPHA:261483
HP:0001249	Intellectual disability	6571	SLC18A2	OMIM:618049
HP:0001249	Intellectual disability	89970	RSPRY1	ORPHA:457395
HP:0001249	Intellectual disability	23133	PHF8	ORPHA:85287
HP:0001249	Intellectual disability	23133	PHF8	OMIM:300263
HP:0001249	Intellectual disability	92344	GORAB	ORPHA:2078
HP:0001249	Intellectual disability	5831	PYCR1	ORPHA:2078
HP:0001249	Intellectual disability	8799	PEX11B	OMIM:614920
HP:0001249	Intellectual disability	10020	GNE	ORPHA:3166
HP:0001249	Intellectual disability	10020	GNE	OMIM:269921
HP:0001249	Intellectual disability	10079	ATP9A	OMIM:620242
HP:0001249	Intellectual disability	4668	NAGA	OMIM:609242
HP:0001249	Intellectual disability	4668	NAGA	ORPHA:79280
HP:0001249	Intellectual disability	5611	DNAJC3	ORPHA:445062
HP:0001249	Intellectual disability	1630	DCC	OMIM:157600
HP:0001249	Intellectual disability	1630	DCC	ORPHA:238722
HP:0001249	Intellectual disability	91574	MTRFR	ORPHA:320375
HP:0001249	Intellectual disability	375056	MIA3	OMIM:619269
HP:0001249	Intellectual disability	284361	EMC10	OMIM:619264
HP:0001249	Intellectual disability	9652	SKIC3	ORPHA:84064
HP:0001249	Intellectual disability	6499	SKIC2	ORPHA:84064
HP:0001249	Intellectual disability	55315	SLC29A3	ORPHA:168569
HP:0001249	Intellectual disability	2138	EYA1	OMIM:166780
HP:0001249	Intellectual disability	5696	PSMB8	OMIM:256040
HP:0001249	Intellectual disability	3516	RBPJ	OMIM:614814
HP:0001249	Intellectual disability	8085	KMT2D	OMIM:147920
HP:0001249	Intellectual disability	7403	KDM6A	OMIM:147920
HP:0001249	Intellectual disability	23443	SLC35A3	ORPHA:370943
HP:0001249	Intellectual disability	324	APC	ORPHA:261584
HP:0001249	Intellectual disability	6853	SYN1	OMIM:300115
HP:0001249	Intellectual disability	1183	CLCN4	OMIM:300114
HP:0001249	Intellectual disability	84282	RNF135	ORPHA:137634
HP:0001249	Intellectual disability	10806	SDCCAG8	OMIM:613615
HP:0001249	Intellectual disability	23126	POGZ	ORPHA:468678
HP:0001249	Intellectual disability	64324	NSD1	ORPHA:821
HP:0001249	Intellectual disability	29072	SETD2	ORPHA:821
HP:0001249	Intellectual disability	10297	APC2	ORPHA:821
HP:0001249	Intellectual disability	10093	ARPC4	OMIM:620141
HP:0001249	Intellectual disability	6658	SOX3	OMIM:300123
HP:0001249	Intellectual disability	4281	MID1	OMIM:300000
HP:0001249	Intellectual disability	56623	INPP5E	ORPHA:75858
HP:0001249	Intellectual disability	10847	SRCAP	ORPHA:2044
HP:0001249	Intellectual disability	55780	ERMARD	ORPHA:75857
HP:0001249	Intellectual disability	6866	TAC3	OMIM:614839
HP:0001249	Intellectual disability	25778	DSTYK	OMIM:270750
HP:0001249	Intellectual disability	9382	COG1	ORPHA:263508
HP:0001249	Intellectual disability	64601	VPS16	OMIM:619291
HP:0001249	Intellectual disability	274	BIN1	OMIM:255200
HP:0001249	Intellectual disability	274	BIN1	ORPHA:169186
HP:0001249	Intellectual disability	50814	NSDHL	OMIM:308050
HP:0001249	Intellectual disability	1757	SARDH	ORPHA:3129
HP:0001249	Intellectual disability	5631	PRPS1	ORPHA:1187
HP:0001249	Intellectual disability	7080	NKX2-1	ORPHA:209905
HP:0001249	Intellectual disability	8546	AP3B1	OMIM:608233
HP:0001249	Intellectual disability	1678	TIMM8A	OMIM:304700
HP:0001249	Intellectual disability	4591	TRIM37	OMIM:253250
HP:0001249	Intellectual disability	60	ACTB	OMIM:607371
HP:0001249	Intellectual disability	124512	METTL23	OMIM:615942
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:79076
HP:0001249	Intellectual disability	5728	PTEN	OMIM:158350
HP:0001249	Intellectual disability	657	BMPR1A	ORPHA:79076
HP:0001249	Intellectual disability	25942	SIN3A	OMIM:613406
HP:0001249	Intellectual disability	25942	SIN3A	ORPHA:500166
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:98811
HP:0001249	Intellectual disability	112476	PRRT2	ORPHA:98811
HP:0001249	Intellectual disability	9907	AP5Z1	OMIM:613647
HP:0001249	Intellectual disability	9711	RUBCN	OMIM:615705
HP:0001249	Intellectual disability	65109	UPF3B	OMIM:300676
HP:0001249	Intellectual disability	4803	NGF	ORPHA:64752
HP:0001249	Intellectual disability	4803	NGF	OMIM:608654
HP:0001249	Intellectual disability	4914	NTRK1	ORPHA:64752
HP:0001249	Intellectual disability	3748	KCNC3	ORPHA:98768
HP:0001249	Intellectual disability	4784	NFIX	ORPHA:420179
HP:0001249	Intellectual disability	80067	DCAF17	ORPHA:3464
HP:0001249	Intellectual disability	2259	FGF14	ORPHA:98764
HP:0001249	Intellectual disability	11128	POLR3A	ORPHA:447896
HP:0001249	Intellectual disability	55027	HEATR3	OMIM:620072
HP:0001249	Intellectual disability	1737	DLAT	OMIM:245348
HP:0001249	Intellectual disability	2200	FBN1	OMIM:608328
HP:0001249	Intellectual disability	2200	FBN1	ORPHA:3449
HP:0001249	Intellectual disability	182	JAG1	OMIM:118450
HP:0001249	Intellectual disability	3708	ITPR1	OMIM:117360
HP:0001249	Intellectual disability	5422	POLA1	ORPHA:163976
HP:0001249	Intellectual disability	7443	VRK1	OMIM:607596
HP:0001249	Intellectual disability	55906	ZC4H2	ORPHA:3454
HP:0001249	Intellectual disability	55906	ZC4H2	OMIM:314580
HP:0001249	Intellectual disability	3481	IGF2	ORPHA:2128
HP:0001249	Intellectual disability	10984	KCNQ1OT1	ORPHA:2128
HP:0001249	Intellectual disability	283120	H19	ORPHA:2128
HP:0001249	Intellectual disability	55129	ANO10	ORPHA:284289
HP:0001249	Intellectual disability	254065	BRWD3	OMIM:300659
HP:0001249	Intellectual disability	4053	LTBP2	ORPHA:3449
HP:0001249	Intellectual disability	2146	EZH2	OMIM:277590
HP:0001249	Intellectual disability	55835	CENPJ	OMIM:613676
HP:0001249	Intellectual disability	5048	PAFAH1B1	ORPHA:95232
HP:0001249	Intellectual disability	92154	MTSS2	OMIM:620086
HP:0001249	Intellectual disability	6567	SLC16A2	ORPHA:59
HP:0001249	Intellectual disability	2033	EP300	OMIM:613684
HP:0001249	Intellectual disability	23590	PDSS1	OMIM:614651
HP:0001249	Intellectual disability	6307	MSMO1	OMIM:616834
HP:0001249	Intellectual disability	79738	BBS10	OMIM:615987
HP:0001249	Intellectual disability	6664	SOX11	OMIM:615866
HP:0001249	Intellectual disability	57410	SCYL1	OMIM:616719
HP:0001249	Intellectual disability	57410	SCYL1	ORPHA:466794
HP:0001249	Intellectual disability	84705	GTPBP3	ORPHA:444013
HP:0001249	Intellectual disability	10290	SPEG	ORPHA:169186
HP:0001249	Intellectual disability	6261	RYR1	ORPHA:169186
HP:0001249	Intellectual disability	7273	TTN	ORPHA:169186
HP:0001249	Intellectual disability	5888	RAD51	ORPHA:238722
HP:0001249	Intellectual disability	10126	DNAL4	ORPHA:238722
HP:0001249	Intellectual disability	9423	NTN1	ORPHA:238722
HP:0001249	Intellectual disability	2245	FGD1	OMIM:305400
HP:0001249	Intellectual disability	51621	KLF13	OMIM:612001
HP:0001249	Intellectual disability	1139	CHRNA7	OMIM:612001
HP:0001249	Intellectual disability	5648	MASP1	OMIM:257920
HP:0001249	Intellectual disability	57704	GBA2	ORPHA:352641
HP:0001249	Intellectual disability	6712	SPTBN2	ORPHA:352403
HP:0001249	Intellectual disability	55187	VPS13D	OMIM:607317
HP:0001249	Intellectual disability	84816	RTN4IP1	OMIM:616732
HP:0001249	Intellectual disability	131118	DNAJC19	OMIM:610198
HP:0001249	Intellectual disability	169792	GLIS3	OMIM:610199
HP:0001249	Intellectual disability	3897	L1CAM	ORPHA:306617
HP:0001249	Intellectual disability	767	CA8	OMIM:613227
HP:0001249	Intellectual disability	2122	MECOM	OMIM:616738
HP:0001249	Intellectual disability	2592	GALT	ORPHA:79239
HP:0001249	Intellectual disability	4763	NF1	OMIM:162200
HP:0001249	Intellectual disability	27315	PGAP2	OMIM:614207
HP:0001249	Intellectual disability	54974	THG1L	OMIM:618800
HP:0001249	Intellectual disability	291	SLC25A4	OMIM:615418
HP:0001249	Intellectual disability	20	ABCA2	OMIM:618808
HP:0001249	Intellectual disability	23400	ATP13A2	OMIM:606693
HP:0001249	Intellectual disability	51185	CRBN	OMIM:607417
HP:0001249	Intellectual disability	57599	WDR48	ORPHA:401800
HP:0001249	Intellectual disability	5718	PSMD12	ORPHA:529962
HP:0001249	Intellectual disability	2186	BPTF	ORPHA:529962
HP:0001249	Intellectual disability	29980	DONSON	OMIM:617604
HP:0001249	Intellectual disability	158326	FREM1	OMIM:608980
HP:0001249	Intellectual disability	9150	CTDP1	ORPHA:48431
HP:0001249	Intellectual disability	26580	BSCL2	OMIM:269700
HP:0001249	Intellectual disability	4929	NR4A2	OMIM:619911
HP:0001249	Intellectual disability	220296	HEPACAM	OMIM:604004
HP:0001249	Intellectual disability	23209	MLC1	OMIM:604004
HP:0001249	Intellectual disability	54880	BCOR	OMIM:300166
HP:0001249	Intellectual disability	80055	PGAP1	ORPHA:401820
HP:0001249	Intellectual disability	9702	CEP57	OMIM:614114
HP:0001249	Intellectual disability	4780	NFE2L2	OMIM:617744
HP:0001249	Intellectual disability	3295	HSD17B4	OMIM:233400
HP:0001249	Intellectual disability	113246	C12orf57	OMIM:218340
HP:0001249	Intellectual disability	5456	POU3F4	ORPHA:1435
HP:0001249	Intellectual disability	139285	AMER1	OMIM:300373
HP:0001249	Intellectual disability	25782	RAB3GAP2	ORPHA:401830
HP:0001249	Intellectual disability	4841	NONO	ORPHA:466791
HP:0001249	Intellectual disability	57502	NLGN4X	OMIM:300495
HP:0001249	Intellectual disability	210	ALAD	ORPHA:100924
HP:0001249	Intellectual disability	2898	GRIK2	OMIM:611092
HP:0001249	Intellectual disability	4141	MARS1	ORPHA:401835
HP:0001249	Intellectual disability	119559	SFXN4	OMIM:615578
HP:0001249	Intellectual disability	57104	PNPLA2	ORPHA:98908
HP:0001249	Intellectual disability	6469	SHH	OMIM:147250
HP:0001249	Intellectual disability	51684	SUFU	OMIM:617757
HP:0001249	Intellectual disability	51663	ZFR	ORPHA:401840
HP:0001249	Intellectual disability	23309	SIN3B	ORPHA:500166
HP:0001249	Intellectual disability	23404	EXOSC2	OMIM:617763
HP:0001249	Intellectual disability	3832	KIF11	OMIM:152950
HP:0001249	Intellectual disability	23001	WDFY3	OMIM:617520
HP:0001249	Intellectual disability	1806	DPYD	ORPHA:293948
HP:0001249	Intellectual disability	6736	SRY	ORPHA:1772
HP:0001249	Intellectual disability	5290	PIK3CA	OMIM:615108
HP:0001249	Intellectual disability	207	AKT1	OMIM:615109
HP:0001249	Intellectual disability	7337	UBE3A	ORPHA:411511
HP:0001249	Intellectual disability	58499	ZNF462	OMIM:618619
HP:0001249	Intellectual disability	9990	SLC12A6	OMIM:218000
HP:0001249	Intellectual disability	3763	KCNJ6	ORPHA:435628
HP:0001249	Intellectual disability	51399	TRAPPC4	OMIM:618741
HP:0001249	Intellectual disability	64116	SLC39A8	OMIM:616721
HP:0001249	Intellectual disability	64116	SLC39A8	ORPHA:468699
HP:0001249	Intellectual disability	7360	UGP2	OMIM:618744
HP:0001249	Intellectual disability	55746	NUP133	OMIM:618349
HP:0001249	Intellectual disability	53616	ADAM22	OMIM:617933
HP:0001249	Intellectual disability	781	CACNA2D1	OMIM:620149
HP:0001249	Intellectual disability	64220	STRA6	OMIM:601186
HP:0001249	Intellectual disability	128869	PIGU	OMIM:618590
HP:0001249	Intellectual disability	1193	CLIC2	OMIM:300886
HP:0001249	Intellectual disability	1193	CLIC2	ORPHA:324410
HP:0001249	Intellectual disability	11277	TREX1	OMIM:225750
HP:0001249	Intellectual disability	11277	TREX1	ORPHA:51
HP:0001249	Intellectual disability	64801	ARV1	OMIM:617020
HP:0001249	Intellectual disability	8867	SYNJ1	OMIM:617389
HP:0001249	Intellectual disability	6487	ST3GAL3	OMIM:615006
HP:0001249	Intellectual disability	112939	NACC1	ORPHA:500545
HP:0001249	Intellectual disability	55768	NGLY1	ORPHA:404454
HP:0001249	Intellectual disability	63908	NAPB	OMIM:620033
HP:0001249	Intellectual disability	9215	LARGE1	OMIM:236670
HP:0001249	Intellectual disability	9215	LARGE1	OMIM:608840
HP:0001249	Intellectual disability	2218	FKTN	OMIM:236670
HP:0001249	Intellectual disability	56915	EXOSC5	OMIM:619576
HP:0001249	Intellectual disability	7343	UBTF	OMIM:617672
HP:0001249	Intellectual disability	7343	UBTF	ORPHA:500180
HP:0001249	Intellectual disability	6709	SPTAN1	OMIM:613477
HP:0001249	Intellectual disability	7965	AIMP2	OMIM:618006
HP:0001249	Intellectual disability	23325	WASHC4	OMIM:615817
HP:0001249	Intellectual disability	9361	LONP1	ORPHA:79243
HP:0001249	Intellectual disability	5160	PDHA1	ORPHA:79243
HP:0001249	Intellectual disability	83480	PUS3	ORPHA:488627
HP:0001249	Intellectual disability	83480	PUS3	OMIM:617051
HP:0001249	Intellectual disability	171023	ASXL1	ORPHA:97297
HP:0001249	Intellectual disability	171023	ASXL1	OMIM:605039
HP:0001249	Intellectual disability	11342	RNF13	OMIM:618379
HP:0001249	Intellectual disability	11342	RNF13	ORPHA:544503
HP:0001249	Intellectual disability	4905	NSF	OMIM:619340
HP:0001249	Intellectual disability	54681	P4HTM	OMIM:618493
HP:0001249	Intellectual disability	2257	FGF12	OMIM:617166
HP:0001249	Intellectual disability	128637	TBC1D20	OMIM:615663
HP:0001249	Intellectual disability	6785	ELOVL4	OMIM:614457
HP:0001249	Intellectual disability	54872	PIGG	OMIM:616917
HP:0001249	Intellectual disability	6812	STXBP1	OMIM:612164
HP:0001249	Intellectual disability	7737	RNF113A	OMIM:300953
HP:0001249	Intellectual disability	22931	RAB18	OMIM:614222
HP:0001249	Intellectual disability	285175	UNC80	OMIM:616801
HP:0001249	Intellectual disability	51091	SEPSECS	OMIM:613811
HP:0001249	Intellectual disability	56270	WDR45B	OMIM:617977
HP:0001249	Intellectual disability	51611	DPH5	OMIM:620070
HP:0001249	Intellectual disability	2571	GAD1	OMIM:619124
HP:0001249	Intellectual disability	60558	GUF1	OMIM:617065
HP:0001249	Intellectual disability	51124	IER3IP1	OMIM:614231
HP:0001249	Intellectual disability	9326	ZNHIT3	OMIM:260565
HP:0001249	Intellectual disability	6506	SLC1A2	OMIM:617105
HP:0001249	Intellectual disability	55704	CCDC88A	OMIM:617507
HP:0001249	Intellectual disability	100506658	OCLN	OMIM:251290
HP:0001249	Intellectual disability	471	ATIC	OMIM:608688
HP:0001249	Intellectual disability	23065	EMC1	ORPHA:480898
HP:0001249	Intellectual disability	2271	FH	OMIM:606812
HP:0001249	Intellectual disability	5296	PIK3R2	OMIM:603387
HP:0001249	Intellectual disability	23545	ATP6V0A2	ORPHA:357074
HP:0001249	Intellectual disability	523	ATP6V1A	ORPHA:357074
HP:0001249	Intellectual disability	529	ATP6V1E1	ORPHA:357074
HP:0001249	Intellectual disability	3423	IDS	OMIM:309900
HP:0001249	Intellectual disability	10479	SLC9A6	ORPHA:85278
HP:0001249	Intellectual disability	729920	CRPPA	OMIM:614643
HP:0001249	Intellectual disability	51227	PIGP	OMIM:617599
HP:0001249	Intellectual disability	55275	VPS53	OMIM:615851
HP:0001249	Intellectual disability	8481	OFD1	OMIM:300804
HP:0001249	Intellectual disability	51294	PCDH12	OMIM:251280
HP:0001249	Intellectual disability	9439	MED23	OMIM:614249
HP:0001249	Intellectual disability	701	BUB1B	OMIM:257300
HP:0001249	Intellectual disability	58497	PRUNE1	OMIM:617481
HP:0001249	Intellectual disability	54344	DPM3	ORPHA:263494
HP:0001249	Intellectual disability	84188	FAR1	OMIM:616154
HP:0001249	Intellectual disability	3329	HSPD1	OMIM:612233
HP:0001249	Intellectual disability	54820	NDE1	OMIM:614019
HP:0001249	Intellectual disability	7407	VARS1	OMIM:617802
HP:0001249	Intellectual disability	10695	CNPY3	OMIM:617929
HP:0001249	Intellectual disability	10535	RNASEH2A	ORPHA:51
HP:0001249	Intellectual disability	84153	RNASEH2C	ORPHA:51
HP:0001249	Intellectual disability	25939	SAMHD1	ORPHA:51
HP:0001249	Intellectual disability	79621	RNASEH2B	ORPHA:51
HP:0001249	Intellectual disability	100147744	RNU7-1	ORPHA:51
HP:0001249	Intellectual disability	134353	LSM11	ORPHA:51
HP:0001249	Intellectual disability	64135	IFIH1	ORPHA:51
HP:0001249	Intellectual disability	5138	PDE2A	OMIM:619150
HP:0001249	Intellectual disability	27316	RBMX	OMIM:300238
HP:0001249	Intellectual disability	50651	SLC45A1	OMIM:617532
HP:0001249	Intellectual disability	5238	PGM3	ORPHA:443811
HP:0001249	Intellectual disability	51343	FZR1	OMIM:620145
HP:0001249	Intellectual disability	3190	HNRNPK	ORPHA:453504
HP:0001249	Intellectual disability	3190	HNRNPK	ORPHA:352665
HP:0001249	Intellectual disability	54968	TMEM70	ORPHA:1194
HP:0001249	Intellectual disability	1278	COL1A2	ORPHA:230851
HP:0001249	Intellectual disability	7552	ZNF711	OMIM:300803
HP:0001249	Intellectual disability	56997	COQ8A	ORPHA:139485
HP:0001249	Intellectual disability	25914	RTTN	OMIM:614833
HP:0001249	Intellectual disability	2192	FBLN1	ORPHA:404451
HP:0001249	Intellectual disability	284403	WDR62	OMIM:604317
HP:0001249	Intellectual disability	84992	PIGY	ORPHA:247262
HP:0001249	Intellectual disability	84720	PIGO	ORPHA:247262
HP:0001249	Intellectual disability	93210	PGAP3	ORPHA:247262
HP:0001249	Intellectual disability	284098	PIGW	ORPHA:247262
HP:0001249	Intellectual disability	55650	PIGV	ORPHA:247262
HP:0001249	Intellectual disability	9487	PIGL	ORPHA:247262
HP:0001249	Intellectual disability	9968	MED12	ORPHA:93932
HP:0001249	Intellectual disability	81857	MED25	ORPHA:464738
HP:0001249	Intellectual disability	343641	TGM6	ORPHA:276193
HP:0001249	Intellectual disability	6872	TAF1	ORPHA:480907
HP:0001249	Intellectual disability	51651	PTRH2	ORPHA:456312
HP:0001249	Intellectual disability	51651	PTRH2	OMIM:616263
HP:0001249	Intellectual disability	23312	DMXL2	OMIM:616113
HP:0001249	Intellectual disability	23312	DMXL2	ORPHA:453533
HP:0001249	Intellectual disability	6999	TDO2	OMIM:600627
HP:0001249	Intellectual disability	10352	WARS2	ORPHA:572798
HP:0001249	Intellectual disability	7291	TWIST1	OMIM:101400
HP:0001249	Intellectual disability	7291	TWIST1	ORPHA:794
HP:0001249	Intellectual disability	1798	DPAGT1	ORPHA:86309
HP:0001249	Intellectual disability	2746	GLUD1	ORPHA:35878
HP:0001249	Intellectual disability	8239	USP9X	ORPHA:480880
HP:0001249	Intellectual disability	8642	DCHS1	ORPHA:314679
HP:0001249	Intellectual disability	5832	ALDH18A1	OMIM:219150
HP:0001249	Intellectual disability	23314	SATB2	ORPHA:576283
HP:0001249	Intellectual disability	8573	CASK	ORPHA:163937
HP:0001249	Intellectual disability	8573	CASK	OMIM:300749
HP:0001249	Intellectual disability	111	ADCY5	OMIM:619651
HP:0001249	Intellectual disability	10735	STAG2	ORPHA:521258
HP:0001249	Intellectual disability	2961	GTF2E2	OMIM:616943
HP:0001249	Intellectual disability	4556	MT-TE	ORPHA:2596
HP:0001249	Intellectual disability	10682	EBP	OMIM:302960
HP:0001249	Intellectual disability	3798	KIF5A	ORPHA:100991
HP:0001249	Intellectual disability	51117	COQ4	OMIM:616276
HP:0001249	Intellectual disability	7319	UBE2A	ORPHA:163956
HP:0001249	Intellectual disability	80816	ASXL3	ORPHA:352577
HP:0001249	Intellectual disability	2261	FGFR3	ORPHA:794
HP:0001249	Intellectual disability	6323	SCN1A	OMIM:607208
HP:0001249	Intellectual disability	10765	KDM5B	OMIM:618109
HP:0001249	Intellectual disability	10586	MAB21L2	OMIM:615877
HP:0001249	Intellectual disability	85358	SHANK3	OMIM:606232
HP:0001249	Intellectual disability	1950	EGF	OMIM:611718
HP:0001249	Intellectual disability	91147	TMEM67	OMIM:216360
HP:0001249	Intellectual disability	91147	TMEM67	ORPHA:1454
HP:0001249	Intellectual disability	51103	NDUFAF1	OMIM:618234
HP:0001249	Intellectual disability	79133	NDUFAF5	OMIM:618238
HP:0001249	Intellectual disability	6301	SARS1	OMIM:617709
HP:0001249	Intellectual disability	6904	TBCD	ORPHA:496641
HP:0001249	Intellectual disability	84679	SLC9A7	OMIM:301024
HP:0001249	Intellectual disability	4810	NHS	OMIM:302350
HP:0001249	Intellectual disability	24140	FTSJ1	OMIM:309549
HP:0001249	Intellectual disability	8831	SYNGAP1	ORPHA:544254
HP:0001249	Intellectual disability	8831	SYNGAP1	OMIM:612621
HP:0001249	Intellectual disability	6597	SMARCA4	ORPHA:1465
HP:0001249	Intellectual disability	6598	SMARCB1	ORPHA:1465
HP:0001249	Intellectual disability	6659	SOX4	ORPHA:1465
HP:0001249	Intellectual disability	8289	ARID1A	ORPHA:1465
HP:0001249	Intellectual disability	5977	DPF2	ORPHA:1465
HP:0001249	Intellectual disability	6601	SMARCC2	ORPHA:1465
HP:0001249	Intellectual disability	6602	SMARCD1	ORPHA:1465
HP:0001249	Intellectual disability	196528	ARID2	ORPHA:1465
HP:0001249	Intellectual disability	6605	SMARCE1	ORPHA:1465
HP:0001249	Intellectual disability	23389	MED13L	ORPHA:369891
HP:0001249	Intellectual disability	23389	MED13L	OMIM:616789
HP:0001249	Intellectual disability	64093	SMOC1	ORPHA:1106
HP:0001249	Intellectual disability	22827	PUF60	ORPHA:508488
HP:0001249	Intellectual disability	80185	TTI2	OMIM:615541
HP:0001249	Intellectual disability	80185	TTI2	ORPHA:391307
HP:0001249	Intellectual disability	23322	RPGRIP1L	ORPHA:1454
HP:0001249	Intellectual disability	57545	CC2D2A	ORPHA:1454
HP:0001249	Intellectual disability	5723	PSPH	ORPHA:79350
HP:0001249	Intellectual disability	9791	PTDSS1	OMIM:151050
HP:0001249	Intellectual disability	8812	CCNK	OMIM:618147
HP:0001249	Intellectual disability	27107	ZBTB11	OMIM:618383
HP:0001249	Intellectual disability	1861	TOR1A	OMIM:618947
HP:0001249	Intellectual disability	131669	UROC1	OMIM:276880
HP:0001249	Intellectual disability	4983	OPHN1	ORPHA:137831
HP:0001249	Intellectual disability	6925	TCF4	ORPHA:2896
HP:0001249	Intellectual disability	26047	CNTNAP2	ORPHA:163681
HP:0001249	Intellectual disability	10283	CWC27	ORPHA:166035
HP:0001249	Intellectual disability	9918	NCAPD2	OMIM:617983
HP:0001249	Intellectual disability	55755	CDK5RAP2	OMIM:604804
HP:0001249	Intellectual disability	6472	SHMT2	OMIM:619121
HP:0001249	Intellectual disability	5075	PAX1	OMIM:615560
HP:0001249	Intellectual disability	29123	ANKRD11	ORPHA:261250
HP:0001249	Intellectual disability	23397	NCAPH	OMIM:617985
HP:0001249	Intellectual disability	8450	CUL4B	ORPHA:85293
HP:0001249	Intellectual disability	5495	PPM1B	ORPHA:163693
HP:0001249	Intellectual disability	6519	SLC3A1	ORPHA:163693
HP:0001249	Intellectual disability	9581	PREPL	ORPHA:163693
HP:0001249	Intellectual disability	79823	CAMKMT	ORPHA:163693
HP:0001249	Intellectual disability	54888	NSUN2	OMIM:611091
HP:0001249	Intellectual disability	5528	PPP2R5D	ORPHA:457279
HP:0001249	Intellectual disability	84668	HYCC1	ORPHA:85163
HP:0001249	Intellectual disability	64131	XYLT1	ORPHA:370930
HP:0001249	Intellectual disability	11141	IL1RAPL1	OMIM:300143
HP:0001249	Intellectual disability	51109	RDH11	ORPHA:436245
HP:0001249	Intellectual disability	10369	CACNG2	OMIM:614256
HP:0001249	Intellectual disability	284217	LAMA1	ORPHA:370022
HP:0001249	Intellectual disability	51	ACOX1	OMIM:264470
HP:0001249	Intellectual disability	7084	TK2	OMIM:609560
HP:0001249	Intellectual disability	1509	CTSD	OMIM:610127
HP:0001249	Intellectual disability	55343	SLC35C1	OMIM:266265
HP:0001249	Intellectual disability	8803	SUCLA2	OMIM:612073
HP:0001249	Intellectual disability	8803	SUCLA2	ORPHA:1933
HP:0001249	Intellectual disability	1482	NKX2-5	OMIM:225250
HP:0001249	Intellectual disability	1760	DMPK	OMIM:160900
HP:0001249	Intellectual disability	7252	TSHB	OMIM:275100
HP:0001249	Intellectual disability	9179	AP4M1	OMIM:612936
HP:0001249	Intellectual disability	7508	XPC	ORPHA:910
HP:0001249	Intellectual disability	1643	DDB2	ORPHA:910
HP:0001249	Intellectual disability	242	ALOX12B	OMIM:242100
HP:0001249	Intellectual disability	59344	ALOXE3	OMIM:242100
HP:0001249	Intellectual disability	26160	IFT172	OMIM:619471
HP:0001249	Intellectual disability	6638	SNRPN	ORPHA:177904
HP:0001249	Intellectual disability	6638	SNRPN	ORPHA:177901
HP:0001249	Intellectual disability	6638	SNRPN	ORPHA:98754
HP:0001249	Intellectual disability	4692	NDN	ORPHA:177904
HP:0001249	Intellectual disability	4692	NDN	ORPHA:177901
HP:0001249	Intellectual disability	4692	NDN	ORPHA:98754
HP:0001249	Intellectual disability	54551	MAGEL2	ORPHA:177904
HP:0001249	Intellectual disability	54551	MAGEL2	ORPHA:177901
HP:0001249	Intellectual disability	54551	MAGEL2	ORPHA:398069
HP:0001249	Intellectual disability	54551	MAGEL2	ORPHA:98754
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:177904
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:177901
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:98754
HP:0001249	Intellectual disability	953	ENTPD1	ORPHA:401810
HP:0001249	Intellectual disability	6334	SCN8A	OMIM:614306
HP:0001249	Intellectual disability	6328	SCN3A	OMIM:617935
HP:0001249	Intellectual disability	10815	CPLX1	ORPHA:352582
HP:0001249	Intellectual disability	57465	TBC1D24	ORPHA:352582
HP:0001249	Intellectual disability	27286	SRPX2	ORPHA:1945
HP:0001249	Intellectual disability	2903	GRIN2A	ORPHA:1945
HP:0001249	Intellectual disability	2566	GABRG2	ORPHA:1945
HP:0001249	Intellectual disability	4796	TONSL	ORPHA:93357
HP:0001249	Intellectual disability	84197	POMK	OMIM:616094
HP:0001249	Intellectual disability	60684	TRAPPC11	ORPHA:369840
HP:0001249	Intellectual disability	7204	TRIO	ORPHA:476126
HP:0001249	Intellectual disability	10157	AASS	ORPHA:2203
HP:0001249	Intellectual disability	4893	NRAS	OMIM:613224
HP:0001249	Intellectual disability	55249	YY1AP1	ORPHA:79094
HP:0001249	Intellectual disability	318	NUDT2	OMIM:619844
HP:0001249	Intellectual disability	5010	CLDN11	OMIM:619328
HP:0001249	Intellectual disability	3778	KCNMA1	ORPHA:79137
HP:0001249	Intellectual disability	166378	AFG2A	OMIM:616577
HP:0001249	Intellectual disability	10501	SEMA6B	OMIM:618876
HP:0001249	Intellectual disability	2590	GALNT2	OMIM:618885
HP:0001249	Intellectual disability	818	CAMK2G	OMIM:618522
HP:0001249	Intellectual disability	3064	HTT	OMIM:617435
HP:0001249	Intellectual disability	7469	NELFA	ORPHA:280
HP:0001249	Intellectual disability	9037	SEMA5A	ORPHA:281
HP:0001249	Intellectual disability	4247	MGAT2	OMIM:212066
HP:0001249	Intellectual disability	29081	METTL5	OMIM:618665
HP:0001249	Intellectual disability	29081	METTL5	ORPHA:2512
HP:0001249	Intellectual disability	10717	AP4B1	OMIM:614066
HP:0001249	Intellectual disability	10717	AP4B1	ORPHA:280763
HP:0001249	Intellectual disability	84879	MFSD2A	OMIM:616486
HP:0001249	Intellectual disability	84879	MFSD2A	ORPHA:2512
HP:0001249	Intellectual disability	11154	AP4S1	OMIM:614067
HP:0001249	Intellectual disability	11154	AP4S1	ORPHA:280763
HP:0001249	Intellectual disability	55773	TBC1D23	OMIM:617695
HP:0001249	Intellectual disability	51633	OTUD6B	OMIM:617452
HP:0001249	Intellectual disability	51633	OTUD6B	ORPHA:505237
HP:0001249	Intellectual disability	27089	UQCRQ	OMIM:615159
HP:0001249	Intellectual disability	9354	UBE4A	OMIM:619639
HP:0001249	Intellectual disability	92609	TIMM50	OMIM:617698
HP:0001249	Intellectual disability	92609	TIMM50	ORPHA:505216
HP:0001249	Intellectual disability	54828	BCAS3	OMIM:619641
HP:0001249	Intellectual disability	3800	KIF5C	OMIM:615282
HP:0001249	Intellectual disability	4208	MEF2C	ORPHA:228384
HP:0001249	Intellectual disability	4208	MEF2C	OMIM:613443
HP:0001249	Intellectual disability	197258	FCSK	OMIM:618324
HP:0001249	Intellectual disability	9922	IQSEC1	OMIM:618687
HP:0001249	Intellectual disability	388662	SLC6A17	OMIM:616269
HP:0001249	Intellectual disability	388662	SLC6A17	ORPHA:457212
HP:0001249	Intellectual disability	23499	MACF1	OMIM:618325
HP:0001249	Intellectual disability	23499	MACF1	ORPHA:572013
HP:0001249	Intellectual disability	9526	MPDU1	ORPHA:79323
HP:0001249	Intellectual disability	26100	WIPI2	OMIM:618453
HP:0001249	Intellectual disability	51645	PPIL1	OMIM:619301
HP:0001249	Intellectual disability	51362	CDC40	OMIM:619302
HP:0001249	Intellectual disability	5881	RAC3	OMIM:618577
HP:0001249	Intellectual disability	51574	LARP7	OMIM:615071
HP:0001249	Intellectual disability	51574	LARP7	ORPHA:319671
HP:0001249	Intellectual disability	57459	GATAD2B	OMIM:615074
HP:0001249	Intellectual disability	57459	GATAD2B	ORPHA:363686
HP:0001249	Intellectual disability	84894	LINGO1	OMIM:618103
HP:0001249	Intellectual disability	56896	DPYSL5	OMIM:619435
HP:0001249	Intellectual disability	55628	ZNF407	OMIM:619557
HP:0001249	Intellectual disability	79868	ALG13	OMIM:300884
HP:0001249	Intellectual disability	8492	PRSS12	OMIM:249500
HP:0001249	Intellectual disability	7846	TUBA1A	OMIM:611603
HP:0001249	Intellectual disability	79709	COLGALT1	OMIM:618360
HP:0001249	Intellectual disability	23229	ARHGEF9	OMIM:300607
HP:0001249	Intellectual disability	6821	SUOX	OMIM:272300
HP:0001249	Intellectual disability	6045	RNF2	OMIM:619460
HP:0001249	Intellectual disability	1781	DYNC1I2	OMIM:618492
HP:0001249	Intellectual disability	10524	KAT5	OMIM:619103
HP:0001249	Intellectual disability	2009	EML1	OMIM:600348
HP:0001249	Intellectual disability	5281	PIGF	OMIM:619356
HP:0001249	Intellectual disability	2290	FOXG1	ORPHA:261144
HP:0001249	Intellectual disability	2290	FOXG1	OMIM:613454
HP:0001249	Intellectual disability	1528	CYB5A	ORPHA:621
HP:0001249	Intellectual disability	5058	PAK1	OMIM:618158
HP:0001249	Intellectual disability	57477	SHROOM4	ORPHA:85288
HP:0001249	Intellectual disability	5264	PHYH	ORPHA:773
HP:0001249	Intellectual disability	1315	COPB1	OMIM:619255
HP:0001249	Intellectual disability	81615	TMEM163	OMIM:620243
HP:0001249	Intellectual disability	1496	CTNNA2	OMIM:618174
HP:0001249	Intellectual disability	199857	ALG14	OMIM:619031
HP:0001249	Intellectual disability	27183	VPS4A	OMIM:619273
HP:0001249	Intellectual disability	10134	BCAP31	OMIM:300475
HP:0001249	Intellectual disability	7109	TRAPPC10	OMIM:620027
HP:0001249	Intellectual disability	7109	TRAPPC10	ORPHA:2512
HP:0001249	Intellectual disability	4010	LMX1B	ORPHA:495818
HP:0001249	Intellectual disability	5689	PSMB1	OMIM:620038
HP:0001249	Intellectual disability	23431	AP4E1	OMIM:613744
HP:0001249	Intellectual disability	23431	AP4E1	ORPHA:280763
HP:0001249	Intellectual disability	894	CCND2	OMIM:615938
HP:0001249	Intellectual disability	51199	NIN	OMIM:614851
HP:0001249	Intellectual disability	51199	NIN	ORPHA:319675
HP:0001249	Intellectual disability	53834	FGFRL1	OMIM:194190
HP:0001249	Intellectual disability	5700	PSMC1	OMIM:620071
HP:0001249	Intellectual disability	6558	SLC12A2	OMIM:619080
HP:0001249	Intellectual disability	54862	CC2D1A	OMIM:608443
HP:0001249	Intellectual disability	55084	SOBP	OMIM:613671
HP:0001249	Intellectual disability	9662	CEP135	OMIM:614673
HP:0001249	Intellectual disability	9662	CEP135	ORPHA:2512
HP:0001249	Intellectual disability	91869	RFT1	OMIM:612015
HP:0001249	Intellectual disability	50	ACO2	OMIM:614559
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95720
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95713
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95712
HP:0001249	Intellectual disability	63035	BCORL1	OMIM:301029
HP:0001249	Intellectual disability	9378	NRXN1	OMIM:614325
HP:0001249	Intellectual disability	55969	RAB5IF	OMIM:616994
HP:0001249	Intellectual disability	163786	SASS6	OMIM:616402
HP:0001249	Intellectual disability	163786	SASS6	ORPHA:2512
HP:0001249	Intellectual disability	64857	PLEKHG2	OMIM:616763
HP:0001249	Intellectual disability	259232	NALCN	ORPHA:371364
HP:0001249	Intellectual disability	8936	WASF1	OMIM:618707
HP:0001249	Intellectual disability	23630	KCNE5	ORPHA:86818
HP:0001249	Intellectual disability	122553	TRAPPC6B	OMIM:617862
HP:0001249	Intellectual disability	6389	SDHA	ORPHA:255241
HP:0001249	Intellectual disability	80704	SLC19A3	ORPHA:255241
HP:0001249	Intellectual disability	91942	NDUFAF2	ORPHA:255241
HP:0001249	Intellectual disability	4723	NDUFV1	ORPHA:255241
HP:0001249	Intellectual disability	55572	FOXRED1	ORPHA:255241
HP:0001249	Intellectual disability	4729	NDUFV2	ORPHA:255241
HP:0001249	Intellectual disability	55967	NDUFA12	ORPHA:255241
HP:0001249	Intellectual disability	4724	NDUFS4	ORPHA:255241
HP:0001249	Intellectual disability	4728	NDUFS8	ORPHA:255241
HP:0001249	Intellectual disability	137682	NDUFAF6	ORPHA:255241
HP:0001249	Intellectual disability	4722	NDUFS3	ORPHA:255241
HP:0001249	Intellectual disability	100131801	PET100	ORPHA:255241
HP:0001249	Intellectual disability	1355	COX15	ORPHA:255241
HP:0001249	Intellectual disability	1892	ECHS1	ORPHA:255241
HP:0001249	Intellectual disability	51079	NDUFA13	ORPHA:255241
HP:0001249	Intellectual disability	374291	NDUFS7	ORPHA:255241
HP:0001249	Intellectual disability	4705	NDUFA10	ORPHA:255241
HP:0001249	Intellectual disability	51601	LIPT1	ORPHA:255241
HP:0001249	Intellectual disability	4719	NDUFS1	ORPHA:255241
HP:0001249	Intellectual disability	4697	NDUFA4	ORPHA:255241
HP:0001249	Intellectual disability	4704	NDUFA9	ORPHA:255241
HP:0001249	Intellectual disability	2806	GOT2	OMIM:618721
HP:0001249	Intellectual disability	57731	SPTBN4	OMIM:617519
HP:0001249	Intellectual disability	4176	MCM7	ORPHA:2512
HP:0001249	Intellectual disability	23310	NCAPD3	ORPHA:2512
HP:0001249	Intellectual disability	23141	ANKLE2	ORPHA:2512
HP:0001249	Intellectual disability	1911	PHC1	ORPHA:2512
HP:0001249	Intellectual disability	51075	TMX2	OMIM:618730
HP:0001249	Intellectual disability	55331	ACER3	OMIM:617762
HP:0001249	Intellectual disability	2036	EPB41L1	OMIM:614257
HP:0003768	Periodic paralysis	10058	ABCB6	OMIM:609153
HP:0003768	Periodic paralysis	2184	FAH	OMIM:276700
HP:0003768	Periodic paralysis	64072	CDH23	ORPHA:91347
HP:0003768	Periodic paralysis	6329	SCN4A	ORPHA:684
HP:0003768	Periodic paralysis	6329	SCN4A	ORPHA:681
HP:0003768	Periodic paralysis	779	CACNA1S	ORPHA:681
HP:0003768	Periodic paralysis	779	CACNA1S	ORPHA:79102
HP:0003768	Periodic paralysis	10008	KCNE3	ORPHA:681
HP:0003768	Periodic paralysis	3759	KCNJ2	OMIM:170390
HP:0003768	Periodic paralysis	3759	KCNJ2	ORPHA:37553
HP:0003768	Periodic paralysis	100134444	KCNJ18	ORPHA:79102
HP:0003768	Periodic paralysis	2556	GABRA3	ORPHA:79102
HP:0003768	Periodic paralysis	760	CA2	OMIM:259730
HP:0003768	Periodic paralysis	3762	KCNJ5	ORPHA:37553
HP:0006297	Enamel hypoplasia	265	AMELX	OMIM:301200
HP:0006297	Enamel hypoplasia	9361	LONP1	OMIM:600373
HP:0006297	Enamel hypoplasia	5339	PLEC	OMIM:226730
HP:0006297	Enamel hypoplasia	5339	PLEC	OMIM:226670
HP:0006297	Enamel hypoplasia	3691	ITGB4	OMIM:226730
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:79403
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:79402
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:251393
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90324
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90321
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90322
HP:0006297	Enamel hypoplasia	1161	ERCC8	OMIM:216400
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90324
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90321
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90322
HP:0006297	Enamel hypoplasia	81607	NECTIN4	OMIM:613573
HP:0006297	Enamel hypoplasia	4010	LMX1B	ORPHA:2614
HP:0006297	Enamel hypoplasia	2263	FGFR2	OMIM:149730
HP:0006297	Enamel hypoplasia	2263	FGFR2	ORPHA:2363
HP:0006297	Enamel hypoplasia	55746	NUP133	OMIM:618349
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:94089
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:612463
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:612462
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:79443
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:79444
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:103580
HP:0006297	Enamel hypoplasia	8675	STX16	ORPHA:94089
HP:0006297	Enamel hypoplasia	2072	ERCC4	ORPHA:90321
HP:0006297	Enamel hypoplasia	2072	ERCC4	OMIM:610965
HP:0006297	Enamel hypoplasia	2067	ERCC1	ORPHA:90322
HP:0006297	Enamel hypoplasia	64094	SMOC2	OMIM:125400
HP:0006297	Enamel hypoplasia	3655	ITGA6	ORPHA:79403
HP:0006297	Enamel hypoplasia	3909	LAMA3	ORPHA:79404
HP:0006297	Enamel hypoplasia	3909	LAMA3	OMIM:245660
HP:0006297	Enamel hypoplasia	3909	LAMA3	ORPHA:79402
HP:0006297	Enamel hypoplasia	3909	LAMA3	OMIM:226700
HP:0006297	Enamel hypoplasia	3918	LAMC2	ORPHA:79404
HP:0006297	Enamel hypoplasia	3918	LAMC2	ORPHA:79402
HP:0006297	Enamel hypoplasia	3918	LAMC2	OMIM:226700
HP:0006297	Enamel hypoplasia	3914	LAMB3	ORPHA:79404
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:104530
HP:0006297	Enamel hypoplasia	3914	LAMB3	ORPHA:79402
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:226650
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:226700
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:79406
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:79402
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:251393
HP:0006297	Enamel hypoplasia	4312	MMP1	ORPHA:79408
HP:0006297	Enamel hypoplasia	4312	MMP1	OMIM:226600
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79408
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79409
HP:0006297	Enamel hypoplasia	1294	COL7A1	OMIM:226600
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79410
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79411
HP:0006297	Enamel hypoplasia	57511	COG6	ORPHA:363523
HP:0006297	Enamel hypoplasia	57511	COG6	OMIM:614576
HP:0006297	Enamel hypoplasia	57511	COG6	OMIM:615328
HP:0006297	Enamel hypoplasia	80055	PGAP1	OMIM:615802
HP:0006297	Enamel hypoplasia	152816	ODAPH	OMIM:614832
HP:0006297	Enamel hypoplasia	56975	FAM20C	OMIM:259775
HP:0006297	Enamel hypoplasia	6595	SMARCA2	OMIM:619293
HP:0006297	Enamel hypoplasia	79641	ROGDI	OMIM:226750
HP:0006297	Enamel hypoplasia	3694	ITGB6	OMIM:616221
HP:0006297	Enamel hypoplasia	84068	SLC10A7	OMIM:618363
HP:0006297	Enamel hypoplasia	10265	IRX5	OMIM:611174
HP:0006297	Enamel hypoplasia	545	ATR	OMIM:614564
HP:0006297	Enamel hypoplasia	545	ATR	OMIM:210600
HP:0006297	Enamel hypoplasia	3117	HLA-DQA1	OMIM:212750
HP:0006297	Enamel hypoplasia	3119	HLA-DQB1	OMIM:212750
HP:0006297	Enamel hypoplasia	5189	PEX1	OMIM:234580
HP:0006297	Enamel hypoplasia	3759	KCNJ2	OMIM:170390
HP:0006297	Enamel hypoplasia	55764	IFT122	OMIM:218330
HP:0006297	Enamel hypoplasia	222663	SCUBE3	OMIM:619184
HP:0006297	Enamel hypoplasia	860	RUNX2	OMIM:119600
HP:0006297	Enamel hypoplasia	1594	CYP27B1	OMIM:264700
HP:0006297	Enamel hypoplasia	1594	CYP27B1	ORPHA:289157
HP:0006297	Enamel hypoplasia	7421	VDR	OMIM:277440
HP:0006297	Enamel hypoplasia	4591	TRIM37	OMIM:253250
HP:0006297	Enamel hypoplasia	2783	GNB2	OMIM:619503
HP:0006297	Enamel hypoplasia	6304	SATB1	OMIM:619229
HP:0006297	Enamel hypoplasia	5116	PCNT	OMIM:210720
HP:0006297	Enamel hypoplasia	2697	GJA1	OMIM:164200
HP:0006297	Enamel hypoplasia	1747	DLX3	OMIM:104510
HP:0006297	Enamel hypoplasia	64840	PORCN	OMIM:305600
HP:0006297	Enamel hypoplasia	9791	PTDSS1	OMIM:151050
HP:0006297	Enamel hypoplasia	93650	ACP4	OMIM:617297
HP:0006297	Enamel hypoplasia	57217	TTC7A	OMIM:243150
HP:0006297	Enamel hypoplasia	134218	DNAJC21	OMIM:617052
HP:0006297	Enamel hypoplasia	120227	CYP2R1	ORPHA:289157
HP:0006297	Enamel hypoplasia	1387	CREBBP	OMIM:180849
HP:0006297	Enamel hypoplasia	2033	EP300	OMIM:180849
HP:0006297	Enamel hypoplasia	80320	SP6	OMIM:620104
HP:0006297	Enamel hypoplasia	8626	TP63	OMIM:129400
HP:0006297	Enamel hypoplasia	4952	OCRL	OMIM:309000
HP:0006297	Enamel hypoplasia	2255	FGF10	OMIM:620193
HP:0006297	Enamel hypoplasia	2255	FGF10	ORPHA:2363
HP:0006297	Enamel hypoplasia	83479	DDX59	ORPHA:2919
HP:0006297	Enamel hypoplasia	8481	OFD1	OMIM:311200
HP:0006297	Enamel hypoplasia	2261	FGFR3	ORPHA:2363
HP:0006297	Enamel hypoplasia	22995	CEP152	OMIM:613823
HP:0006297	Enamel hypoplasia	9076	CLDN1	OMIM:607626
HP:0006297	Enamel hypoplasia	7355	SLC35A2	OMIM:300896
HP:0006297	Enamel hypoplasia	326	AIRE	OMIM:240300
HP:0006297	Enamel hypoplasia	4763	NF1	ORPHA:139474
HP:0006297	Enamel hypoplasia	79977	GRHL2	OMIM:616029
HP:0006297	Enamel hypoplasia	387	RHOA	OMIM:618727
HP:0006297	Enamel hypoplasia	2591	GALNT3	OMIM:211900
HP:0006297	Enamel hypoplasia	23219	FBXO28	OMIM:619777
HP:0006297	Enamel hypoplasia	1107	CHD3	OMIM:618205
HP:0006297	Enamel hypoplasia	404672	GTF2H5	ORPHA:33364
HP:0006297	Enamel hypoplasia	833	CARS1	ORPHA:33364
HP:0006297	Enamel hypoplasia	2068	ERCC2	ORPHA:33364
HP:0006297	Enamel hypoplasia	7737	RNF113A	ORPHA:33364
HP:0006297	Enamel hypoplasia	136647	MPLKIP	ORPHA:33364
HP:0006297	Enamel hypoplasia	6897	TARS1	ORPHA:33364
HP:0006297	Enamel hypoplasia	2071	ERCC3	ORPHA:33364
HP:0006297	Enamel hypoplasia	2961	GTF2E2	ORPHA:33364
HP:0006297	Enamel hypoplasia	2317	FLNB	OMIM:272460
HP:0006297	Enamel hypoplasia	1487	CTBP1	OMIM:617915
HP:0006297	Enamel hypoplasia	2260	FGFR1	ORPHA:99798
HP:0006297	Enamel hypoplasia	4487	MSX1	ORPHA:99798
HP:0006297	Enamel hypoplasia	128178	EDARADD	ORPHA:99798
HP:0006297	Enamel hypoplasia	5083	PAX9	ORPHA:99798
HP:0006297	Enamel hypoplasia	7341	SUMO1	ORPHA:99798
HP:0006297	Enamel hypoplasia	80326	WNT10A	ORPHA:99798
HP:0006297	Enamel hypoplasia	1896	EDA	ORPHA:99798
HP:0006297	Enamel hypoplasia	8313	AXIN2	ORPHA:99798
HP:0006297	Enamel hypoplasia	3664	IRF6	ORPHA:99798
HP:0006297	Enamel hypoplasia	4040	LRP6	ORPHA:99798
HP:0006297	Enamel hypoplasia	7039	TGFA	ORPHA:99798
HP:0006297	Enamel hypoplasia	7480	WNT10B	ORPHA:99798
HP:0006297	Enamel hypoplasia	5286	PIK3C2A	ORPHA:557003
HP:0006297	Enamel hypoplasia	224	ALDH3A2	OMIM:270200
HP:0006297	Enamel hypoplasia	1513	CTSK	ORPHA:763
HP:0006297	Enamel hypoplasia	258	AMBN	OMIM:616270
HP:0006297	Enamel hypoplasia	3861	KRT14	ORPHA:69087
HP:0006297	Enamel hypoplasia	3861	KRT14	ORPHA:79396
HP:0006297	Enamel hypoplasia	5062	PAK2	OMIM:618458
HP:0006297	Enamel hypoplasia	3852	KRT5	ORPHA:79396
HP:0006297	Enamel hypoplasia	4038	LRP4	OMIM:212780
HP:0003771	Pulp calcification	1277	COL1A1	ORPHA:287
HP:0003771	Pulp calcification	1289	COL5A1	ORPHA:287
HP:0003771	Pulp calcification	1290	COL5A2	ORPHA:287
HP:0003771	Pulp calcification	2591	GALNT3	OMIM:211900
HP:0003771	Pulp calcification	2248	FGF3	ORPHA:2791
HP:0003771	Pulp calcification	1834	DSPP	OMIM:125420
HP:0003771	Pulp calcification	54757	FAM20A	OMIM:204690
HP:0006335	Persistence of primary teeth	2316	FLNA	OMIM:305620
HP:0006335	Persistence of primary teeth	3572	IL6ST	OMIM:619752
HP:0006335	Persistence of primary teeth	6424	SFRP4	OMIM:265900
HP:0006335	Persistence of primary teeth	1513	CTSK	OMIM:265800
HP:0006335	Persistence of primary teeth	1513	CTSK	ORPHA:763
HP:0006335	Persistence of primary teeth	54517	PUS7	OMIM:618342
HP:0006335	Persistence of primary teeth	7021	TFAP2B	ORPHA:46627
HP:0006335	Persistence of primary teeth	387	RHOA	OMIM:618727
HP:0006335	Persistence of primary teeth	3759	KCNJ2	OMIM:170390
HP:0006335	Persistence of primary teeth	3759	KCNJ2	ORPHA:37553
HP:0006335	Persistence of primary teeth	7474	WNT5A	OMIM:180700
HP:0006335	Persistence of primary teeth	1855	DVL1	OMIM:180700
HP:0006335	Persistence of primary teeth	5745	PTH1R	OMIM:600002
HP:0006335	Persistence of primary teeth	5745	PTH1R	OMIM:125350
HP:0006335	Persistence of primary teeth	4000	LMNA	ORPHA:740
HP:0006335	Persistence of primary teeth	10269	ZMPSTE24	ORPHA:740
HP:0006335	Persistence of primary teeth	54880	BCOR	OMIM:300166
HP:0006335	Persistence of primary teeth	6774	STAT3	OMIM:147060
HP:0006335	Persistence of primary teeth	374654	KIF7	OMIM:200990
HP:0006335	Persistence of primary teeth	51715	RAB23	OMIM:201000
HP:0006335	Persistence of primary teeth	79813	EHMT1	OMIM:610253
HP:0006335	Persistence of primary teeth	10847	SRCAP	ORPHA:2044
HP:0006335	Persistence of primary teeth	51341	ZBTB7A	OMIM:619769
HP:0006335	Persistence of primary teeth	63901	FAM111A	ORPHA:93325
HP:0006335	Persistence of primary teeth	760	CA2	ORPHA:2785
HP:0006335	Persistence of primary teeth	3762	KCNJ5	ORPHA:37553
HP:0006335	Persistence of primary teeth	8600	TNFSF11	OMIM:259710
HP:0004691	2-3 toe syndactyly	10682	EBP	ORPHA:401973
HP:0004691	2-3 toe syndactyly	10682	EBP	OMIM:300960
HP:0004691	2-3 toe syndactyly	658	BMPR1B	OMIM:112600
HP:0004691	2-3 toe syndactyly	8200	GDF5	OMIM:112600
HP:0004691	2-3 toe syndactyly	650	BMP2	OMIM:112600
HP:0004691	2-3 toe syndactyly	22827	PUF60	ORPHA:508498
HP:0004691	2-3 toe syndactyly	11253	MAN1B1	ORPHA:397941
HP:0004691	2-3 toe syndactyly	23394	ADNP	ORPHA:404448
HP:0004691	2-3 toe syndactyly	5898	RALA	OMIM:619311
HP:0004691	2-3 toe syndactyly	8294	H4C9	OMIM:619951
HP:0004691	2-3 toe syndactyly	8506	CNTNAP1	OMIM:618186
HP:0004691	2-3 toe syndactyly	4683	NBN	OMIM:251260
HP:0004691	2-3 toe syndactyly	5885	RAD21	OMIM:614701
HP:0004691	2-3 toe syndactyly	81857	MED25	OMIM:616449
HP:0004691	2-3 toe syndactyly	81857	MED25	ORPHA:464738
HP:0004691	2-3 toe syndactyly	10586	MAB21L2	OMIM:615877
HP:0004691	2-3 toe syndactyly	8854	ALDH1A2	OMIM:620025
HP:0004691	2-3 toe syndactyly	10274	STAG1	ORPHA:502434
HP:0004691	2-3 toe syndactyly	85358	SHANK3	OMIM:606232
HP:0004691	2-3 toe syndactyly	64324	NSD1	ORPHA:821
HP:0004691	2-3 toe syndactyly	29072	SETD2	ORPHA:821
HP:0004691	2-3 toe syndactyly	10297	APC2	ORPHA:821
HP:0004691	2-3 toe syndactyly	55209	SETD5	ORPHA:404440
HP:0004691	2-3 toe syndactyly	10743	RAI1	ORPHA:477817
HP:0004691	2-3 toe syndactyly	6299	SALL1	OMIM:107480
HP:0004691	2-3 toe syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0004691	2-3 toe syndactyly	23291	FBXW11	OMIM:618914
HP:0004691	2-3 toe syndactyly	10982	MAPRE2	OMIM:616734
HP:0004691	2-3 toe syndactyly	1717	DHCR7	ORPHA:818
HP:0004691	2-3 toe syndactyly	1717	DHCR7	OMIM:270400
HP:0004691	2-3 toe syndactyly	4297	KMT2A	OMIM:605130
HP:0004691	2-3 toe syndactyly	8626	TP63	OMIM:106260
HP:0004691	2-3 toe syndactyly	6660	SOX5	ORPHA:313892
HP:0004691	2-3 toe syndactyly	54880	BCOR	ORPHA:2712
HP:0004691	2-3 toe syndactyly	54880	BCOR	OMIM:300166
HP:0004691	2-3 toe syndactyly	51057	WDPCP	OMIM:217085
HP:0004691	2-3 toe syndactyly	9241	NOG	OMIM:186500
HP:0004691	2-3 toe syndactyly	727857	BHLHA9	ORPHA:157801
HP:0004691	2-3 toe syndactyly	7319	UBE2A	OMIM:300860
HP:0004691	2-3 toe syndactyly	10087	CERT1	OMIM:616351
HP:0004691	2-3 toe syndactyly	372	ARCN1	OMIM:617164
HP:0004691	2-3 toe syndactyly	164	AP1G1	OMIM:619467
HP:0004691	2-3 toe syndactyly	1656	DDX6	OMIM:618653
HP:0004691	2-3 toe syndactyly	4212	MEIS2	OMIM:600987
HP:0004691	2-3 toe syndactyly	23327	NEDD4L	OMIM:617201
HP:0004691	2-3 toe syndactyly	5147	PDE6D	OMIM:615665
HP:0004691	2-3 toe syndactyly	57178	ZMIZ1	OMIM:618659
HP:0004691	2-3 toe syndactyly	3239	HOXD13	ORPHA:93406
HP:0004691	2-3 toe syndactyly	4613	MYCN	OMIM:164280
HP:0004691	2-3 toe syndactyly	4613	MYCN	ORPHA:391641
HP:0004691	2-3 toe syndactyly	93627	TBCK	ORPHA:488632
HP:0004691	2-3 toe syndactyly	6304	SATB1	OMIM:619229
HP:0004691	2-3 toe syndactyly	80185	TTI2	ORPHA:391307
HP:0004691	2-3 toe syndactyly	26160	IFT172	OMIM:619471
HP:0004691	2-3 toe syndactyly	10664	CTCF	ORPHA:363611
HP:0004691	2-3 toe syndactyly	3590	IL11RA	OMIM:614188
HP:0004691	2-3 toe syndactyly	55165	CEP55	OMIM:236500
HP:0004691	2-3 toe syndactyly	84992	PIGY	OMIM:616809
HP:0004691	2-3 toe syndactyly	10907	TXNL4A	OMIM:608572
HP:0004691	2-3 toe syndactyly	284252	KCTD1	OMIM:181270
HP:0004691	2-3 toe syndactyly	6558	SLC12A2	OMIM:619080
HP:0004691	2-3 toe syndactyly	7204	TRIO	OMIM:617061
HP:0004691	2-3 toe syndactyly	7204	TRIO	ORPHA:476126
HP:0004691	2-3 toe syndactyly	64327	LMBR1	OMIM:186200
HP:0004691	2-3 toe syndactyly	2222	FDFT1	OMIM:618156
HP:0004691	2-3 toe syndactyly	4089	SMAD4	OMIM:139210
HP:0004691	2-3 toe syndactyly	6857	SYT1	ORPHA:522077
HP:0004691	2-3 toe syndactyly	8318	CDC45	OMIM:617063
HP:0004691	2-3 toe syndactyly	6472	SHMT2	OMIM:619121
HP:0004691	2-3 toe syndactyly	112752	IFT43	OMIM:617866
HP:0004691	2-3 toe syndactyly	112752	IFT43	OMIM:614099
HP:0004691	2-3 toe syndactyly	57570	TRMT5	OMIM:616539
HP:0004691	2-3 toe syndactyly	2260	FGFR1	OMIM:123150
HP:0004691	2-3 toe syndactyly	2263	FGFR2	OMIM:123150
HP:0004691	2-3 toe syndactyly	2263	FGFR2	ORPHA:1540
HP:0004691	2-3 toe syndactyly	23529	CLCF1	OMIM:610313
HP:0004691	2-3 toe syndactyly	11128	POLR3A	ORPHA:3455
HP:0004691	2-3 toe syndactyly	745	MYRF	OMIM:618280
HP:0004691	2-3 toe syndactyly	23387	SIK3	OMIM:618162
HP:0004691	2-3 toe syndactyly	10020	GNE	OMIM:269921
HP:0004691	2-3 toe syndactyly	10020	GNE	ORPHA:3166
HP:0004691	2-3 toe syndactyly	1663	DDX11	OMIM:613398
HP:0004691	2-3 toe syndactyly	25836	NIPBL	OMIM:122470
HP:0004691	2-3 toe syndactyly	5718	PSMD12	OMIM:617516
HP:0004691	2-3 toe syndactyly	9757	KMT2B	OMIM:619934
HP:0004691	2-3 toe syndactyly	4848	CNOT2	OMIM:618608
HP:0004691	2-3 toe syndactyly	55023	PHIP	ORPHA:589905
HP:0004691	2-3 toe syndactyly	6913	TBX15	OMIM:260660
HP:0004691	2-3 toe syndactyly	341208	HEPHL1	OMIM:261990
HP:0004691	2-3 toe syndactyly	55212	BBS7	OMIM:615984
HP:0004691	2-3 toe syndactyly	4208	MEF2C	OMIM:613443
HP:0004691	2-3 toe syndactyly	3516	RBPJ	OMIM:614814
HP:0004691	2-3 toe syndactyly	3720	JARID2	OMIM:620098
HP:0004691	2-3 toe syndactyly	3762	KCNJ5	ORPHA:37553
HP:0004691	2-3 toe syndactyly	3759	KCNJ2	ORPHA:37553
HP:0004691	2-3 toe syndactyly	9990	SLC12A6	OMIM:218000
HP:0003774	Stage 5 chronic kidney disease	51726	DNAJB11	OMIM:618061
HP:0003774	Stage 5 chronic kidney disease	51726	DNAJB11	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	OMIM:606996
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	OMIM:606966
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	OMIM:219800
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	OMIM:219900
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	ORPHA:411634
HP:0003774	Stage 5 chronic kidney disease	9722	NOS1AP	OMIM:619155
HP:0003774	Stage 5 chronic kidney disease	92482	BBIP1	OMIM:615995
HP:0003774	Stage 5 chronic kidney disease	10806	SDCCAG8	OMIM:615993
HP:0003774	Stage 5 chronic kidney disease	10806	SDCCAG8	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	4010	LMX1B	ORPHA:2614
HP:0003774	Stage 5 chronic kidney disease	4010	LMX1B	OMIM:256020
HP:0003774	Stage 5 chronic kidney disease	54585	LZTFL1	OMIM:615994
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	OMIM:610188
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	OMIM:610189
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	OMIM:618348
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	OMIM:616730
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	OMIM:618349
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	OMIM:618177
HP:0003774	Stage 5 chronic kidney disease	718	C3	OMIM:612925
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:609583
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:266900
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:256100
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:216360
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	ORPHA:84081
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:613550
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:610688
HP:0003774	Stage 5 chronic kidney disease	4210	MEFV	OMIM:249100
HP:0003774	Stage 5 chronic kidney disease	396	ARHGDIA	OMIM:615244
HP:0003774	Stage 5 chronic kidney disease	396	ARHGDIA	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	1184	CLCN5	OMIM:300009
HP:0003774	Stage 5 chronic kidney disease	10677	AVIL	OMIM:618594
HP:0003774	Stage 5 chronic kidney disease	137682	NDUFAF6	OMIM:618913
HP:0003774	Stage 5 chronic kidney disease	137682	NDUFAF6	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	23322	RPGRIP1L	OMIM:611560
HP:0003774	Stage 5 chronic kidney disease	23322	RPGRIP1L	OMIM:619113
HP:0003774	Stage 5 chronic kidney disease	10847	SRCAP	ORPHA:2044
HP:0003774	Stage 5 chronic kidney disease	84520	GON7	OMIM:619603
HP:0003774	Stage 5 chronic kidney disease	8526	DGKE	OMIM:615008
HP:0003774	Stage 5 chronic kidney disease	51473	DCDC2	OMIM:616217
HP:0003774	Stage 5 chronic kidney disease	51473	DCDC2	ORPHA:84081
HP:0003774	Stage 5 chronic kidney disease	1287	COL4A5	OMIM:301050
HP:0003774	Stage 5 chronic kidney disease	1287	COL4A5	ORPHA:1018
HP:0003774	Stage 5 chronic kidney disease	977	CD151	OMIM:609057
HP:0003774	Stage 5 chronic kidney disease	79693	YRDC	OMIM:619609
HP:0003774	Stage 5 chronic kidney disease	2542	SLC37A4	ORPHA:79259
HP:0003774	Stage 5 chronic kidney disease	4868	NPHS1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23607	CD2AP	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9688	NUP93	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9688	NUP93	OMIM:616892
HP:0003774	Stage 5 chronic kidney disease	4643	MYO1E	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	4643	MYO1E	OMIM:614131
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	OMIM:613237
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	OMIM:614455
HP:0003774	Stage 5 chronic kidney disease	26130	GAPVD1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	OMIM:194080
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	OMIM:136680
HP:0003774	Stage 5 chronic kidney disease	51479	ANKFY1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54443	ANLN	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54443	ANLN	OMIM:616032
HP:0003774	Stage 5 chronic kidney disease	5800	PTPRO	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5800	PTPRO	OMIM:614196
HP:0003774	Stage 5 chronic kidney disease	286204	CRB2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23165	NUP205	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23165	NUP205	OMIM:616893
HP:0003774	Stage 5 chronic kidney disease	2013	EMP2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79023	NUP37	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	51196	PLCE1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	51196	PLCE1	OMIM:610725
HP:0003774	Stage 5 chronic kidney disease	79902	NUP85	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79902	NUP85	OMIM:618176
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	OMIM:203780
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	OMIM:104200
HP:0003774	Stage 5 chronic kidney disease	79934	COQ8B	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79934	COQ8B	OMIM:615573
HP:0003774	Stage 5 chronic kidney disease	23279	NUP160	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9863	MAGI2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9863	MAGI2	OMIM:617609
HP:0003774	Stage 5 chronic kidney disease	81	ACTN4	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	81	ACTN4	OMIM:603278
HP:0003774	Stage 5 chronic kidney disease	7225	TRPC6	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7225	TRPC6	OMIM:603965
HP:0003774	Stage 5 chronic kidney disease	8542	APOL1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	8542	APOL1	OMIM:612551
HP:0003774	Stage 5 chronic kidney disease	54885	TBC1D8B	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54885	TBC1D8B	OMIM:301028
HP:0003774	Stage 5 chronic kidney disease	7827	NPHS2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7827	NPHS2	OMIM:600995
HP:0003774	Stage 5 chronic kidney disease	83478	ARHGAP24	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23500	DAAM2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	OMIM:616002
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	OMIM:120330
HP:0003774	Stage 5 chronic kidney disease	23193	GANAB	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5310	PKD1	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5311	PKD2	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5311	PKD2	OMIM:613095
HP:0003774	Stage 5 chronic kidney disease	29880	ALG5	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	29880	ALG5	OMIM:620056
HP:0003774	Stage 5 chronic kidney disease	9742	IFT140	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	9742	IFT140	OMIM:266920
HP:0003774	Stage 5 chronic kidney disease	79796	ALG9	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	80114	BICC1	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	23005	MAPKBP1	OMIM:617271
HP:0003774	Stage 5 chronic kidney disease	6928	HNF1B	OMIM:137920
HP:0003774	Stage 5 chronic kidney disease	3911	LAMA5	OMIM:620049
HP:0003774	Stage 5 chronic kidney disease	26146	TRAF3IP1	OMIM:616629
HP:0003774	Stage 5 chronic kidney disease	26146	TRAF3IP1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	3913	LAMB2	OMIM:609049
HP:0003774	Stage 5 chronic kidney disease	3913	LAMB2	OMIM:614199
HP:0003774	Stage 5 chronic kidney disease	4594	MMUT	OMIM:251000
HP:0003774	Stage 5 chronic kidney disease	55764	IFT122	OMIM:218330
HP:0003774	Stage 5 chronic kidney disease	25778	DSTYK	OMIM:610805
HP:0003774	Stage 5 chronic kidney disease	54806	AHI1	OMIM:608629
HP:0003774	Stage 5 chronic kidney disease	9056	SLC7A7	OMIM:222700
HP:0003774	Stage 5 chronic kidney disease	55863	TMEM126B	OMIM:618250
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:267010
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:604387
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:208540
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	203286	ANKS6	OMIM:615382
HP:0003774	Stage 5 chronic kidney disease	254428	SLC41A1	OMIM:619468
HP:0003774	Stage 5 chronic kidney disease	149461	CLDN19	OMIM:248190
HP:0003774	Stage 5 chronic kidney disease	4582	MUC1	OMIM:174000
HP:0003774	Stage 5 chronic kidney disease	55644	OSGEP	OMIM:617729
HP:0003774	Stage 5 chronic kidney disease	27130	INVS	OMIM:602088
HP:0003774	Stage 5 chronic kidney disease	27130	INVS	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	7840	ALMS1	ORPHA:64
HP:0003774	Stage 5 chronic kidney disease	7809	BSND	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	1188	CLCNKB	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	1187	CLCNKA	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	10269	ZMPSTE24	OMIM:608612
HP:0003774	Stage 5 chronic kidney disease	112858	TP53RK	OMIM:617730
HP:0003774	Stage 5 chronic kidney disease	8879	SGPL1	OMIM:617575
HP:0003774	Stage 5 chronic kidney disease	8270	LAGE3	OMIM:301006
HP:0003774	Stage 5 chronic kidney disease	57545	CC2D2A	OMIM:612285
HP:0003774	Stage 5 chronic kidney disease	975	CD81	OMIM:613496
HP:0003774	Stage 5 chronic kidney disease	1286	COL4A4	OMIM:203780
HP:0003774	Stage 5 chronic kidney disease	51002	TPRKB	OMIM:617731
HP:0003774	Stage 5 chronic kidney disease	199221	DZIP1L	OMIM:617610
HP:0003774	Stage 5 chronic kidney disease	199221	DZIP1L	ORPHA:731
HP:0003774	Stage 5 chronic kidney disease	5580	PRKCD	OMIM:615559
HP:0003774	Stage 5 chronic kidney disease	54796	BNC2	ORPHA:93110
HP:0003774	Stage 5 chronic kidney disease	4952	OCRL	OMIM:309000
HP:0003774	Stage 5 chronic kidney disease	79809	TTC21B	OMIM:613819
HP:0003774	Stage 5 chronic kidney disease	79809	TTC21B	OMIM:613820
HP:0003774	Stage 5 chronic kidney disease	189	AGXT	ORPHA:93598
HP:0003774	Stage 5 chronic kidney disease	2335	FN1	OMIM:601894
HP:0003774	Stage 5 chronic kidney disease	100147744	RNU7-1	OMIM:619487
HP:0003774	Stage 5 chronic kidney disease	2934	GSN	ORPHA:85448
HP:0003774	Stage 5 chronic kidney disease	50485	SMARCAL1	ORPHA:1830
HP:0003774	Stage 5 chronic kidney disease	50485	SMARCAL1	OMIM:242900
HP:0003774	Stage 5 chronic kidney disease	182	JAG1	OMIM:118450
HP:0003774	Stage 5 chronic kidney disease	10253	SPRY2	OMIM:616818
HP:0003774	Stage 5 chronic kidney disease	284086	NEK8	OMIM:613824
HP:0003774	Stage 5 chronic kidney disease	5314	PKHD1	ORPHA:731
HP:0003774	Stage 5 chronic kidney disease	93649	MYOCD	OMIM:618719
HP:0003774	Stage 5 chronic kidney disease	353	APRT	ORPHA:976
HP:0003774	Stage 5 chronic kidney disease	9657	IQCB1	OMIM:609254
HP:0003774	Stage 5 chronic kidney disease	9657	IQCB1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	1962	EHHADH	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	2628	GATM	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	6569	SLC34A1	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	5889	RAD51C	OMIM:613390
HP:0003774	Stage 5 chronic kidney disease	79989	IFT56	OMIM:619534
HP:0003774	Stage 5 chronic kidney disease	50484	RRM2B	OMIM:268315
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:616307
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614378
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614376
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614377
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	63929	XPNPEP3	OMIM:613159
HP:0003774	Stage 5 chronic kidney disease	3458	IFNG	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	7248	TSC1	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	7249	TSC2	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	84662	GLIS2	OMIM:611498
HP:0003774	Stage 5 chronic kidney disease	1376	CPT2	ORPHA:228302
HP:0003774	Stage 5 chronic kidney disease	64127	NOD2	ORPHA:90340
HP:0003774	Stage 5 chronic kidney disease	81494	CFHR5	OMIM:614809
HP:0003774	Stage 5 chronic kidney disease	79583	TMEM231	ORPHA:2752
HP:0003774	Stage 5 chronic kidney disease	112752	IFT43	OMIM:614099
HP:0003774	Stage 5 chronic kidney disease	51004	COQ6	OMIM:614650
HP:0003774	Stage 5 chronic kidney disease	51134	CEP83	OMIM:615862
HP:0003774	Stage 5 chronic kidney disease	9935	MAFB	OMIM:166300
HP:0003774	Stage 5 chronic kidney disease	22897	CEP164	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	22909	FAN1	OMIM:614817
HP:0003774	Stage 5 chronic kidney disease	1288	COL4A6	ORPHA:1018
HP:0000324	Facial asymmetry	7291	TWIST1	ORPHA:794
HP:0000324	Facial asymmetry	7291	TWIST1	OMIM:101400
HP:0000324	Facial asymmetry	2263	FGFR2	ORPHA:794
HP:0000324	Facial asymmetry	2263	FGFR2	ORPHA:87
HP:0000324	Facial asymmetry	2263	FGFR2	OMIM:101400
HP:0000324	Facial asymmetry	2261	FGFR3	ORPHA:794
HP:0000324	Facial asymmetry	5290	PIK3CA	OMIM:612918
HP:0000324	Facial asymmetry	5290	PIK3CA	ORPHA:60040
HP:0000324	Facial asymmetry	7528	YY1	ORPHA:506358
HP:0000324	Facial asymmetry	7528	YY1	OMIM:617557
HP:0000324	Facial asymmetry	8243	SMC1A	OMIM:301044
HP:0000324	Facial asymmetry	2778	GNAS	OMIM:174800
HP:0000324	Facial asymmetry	2778	GNAS	ORPHA:562
HP:0000324	Facial asymmetry	3265	HRAS	ORPHA:2612
HP:0000324	Facial asymmetry	3845	KRAS	ORPHA:2612
HP:0000324	Facial asymmetry	3845	KRAS	OMIM:600268
HP:0000324	Facial asymmetry	4893	NRAS	ORPHA:2612
HP:0000324	Facial asymmetry	2335	FN1	ORPHA:93315
HP:0000324	Facial asymmetry	1280	COL2A1	ORPHA:93315
HP:0000324	Facial asymmetry	1947	EFNB1	ORPHA:1520
HP:0000324	Facial asymmetry	1947	EFNB1	OMIM:304110
HP:0000324	Facial asymmetry	4038	LRP4	OMIM:614305
HP:0000324	Facial asymmetry	23314	SATB2	ORPHA:251028
HP:0000324	Facial asymmetry	23314	SATB2	ORPHA:251019
HP:0000324	Facial asymmetry	23314	SATB2	ORPHA:576283
HP:0000324	Facial asymmetry	6418	SET	OMIM:618106
HP:0000324	Facial asymmetry	57167	SALL4	OMIM:607323
HP:0000324	Facial asymmetry	57167	SALL4	ORPHA:233
HP:0000324	Facial asymmetry	80144	FRAS1	OMIM:219000
HP:0000324	Facial asymmetry	3481	IGF2	ORPHA:231144
HP:0000324	Facial asymmetry	3481	IGF2	ORPHA:2128
HP:0000324	Facial asymmetry	283120	H19	ORPHA:231144
HP:0000324	Facial asymmetry	283120	H19	ORPHA:2128
HP:0000324	Facial asymmetry	613	BCR	ORPHA:261330
HP:0000324	Facial asymmetry	1399	CRKL	ORPHA:261330
HP:0000324	Facial asymmetry	5594	MAPK1	ORPHA:261330
HP:0000324	Facial asymmetry	6651	SON	OMIM:617140
HP:0000324	Facial asymmetry	6651	SON	ORPHA:500150
HP:0000324	Facial asymmetry	113179	ADAT3	ORPHA:363528
HP:0000324	Facial asymmetry	23030	KDM4B	OMIM:619320
HP:0000324	Facial asymmetry	83479	DDX59	OMIM:174300
HP:0000324	Facial asymmetry	55636	CHD7	ORPHA:138
HP:0000324	Facial asymmetry	55636	CHD7	OMIM:214800
HP:0000324	Facial asymmetry	9723	SEMA3E	ORPHA:138
HP:0000324	Facial asymmetry	9126	SMC3	OMIM:610759
HP:0000324	Facial asymmetry	23499	MACF1	ORPHA:572013
HP:0000324	Facial asymmetry	387119	CEP85L	ORPHA:572013
HP:0000324	Facial asymmetry	2138	EYA1	ORPHA:2792
HP:0000324	Facial asymmetry	2138	EYA1	ORPHA:52429
HP:0000324	Facial asymmetry	5075	PAX1	ORPHA:2792
HP:0000324	Facial asymmetry	672	BRCA1	ORPHA:84
HP:0000324	Facial asymmetry	10459	MAD2L2	ORPHA:84
HP:0000324	Facial asymmetry	7516	XRCC2	ORPHA:84
HP:0000324	Facial asymmetry	29089	UBE2T	ORPHA:84
HP:0000324	Facial asymmetry	675	BRCA2	ORPHA:84
HP:0000324	Facial asymmetry	55120	FANCL	ORPHA:84
HP:0000324	Facial asymmetry	2177	FANCD2	ORPHA:84
HP:0000324	Facial asymmetry	2175	FANCA	ORPHA:84
HP:0000324	Facial asymmetry	2187	FANCB	ORPHA:84
HP:0000324	Facial asymmetry	2176	FANCC	ORPHA:84
HP:0000324	Facial asymmetry	2178	FANCE	ORPHA:84
HP:0000324	Facial asymmetry	2188	FANCF	ORPHA:84
HP:0000324	Facial asymmetry	2189	FANCG	ORPHA:84
HP:0000324	Facial asymmetry	5888	RAD51	ORPHA:84
HP:0000324	Facial asymmetry	5889	RAD51C	ORPHA:84
HP:0000324	Facial asymmetry	55159	RFWD3	ORPHA:84
HP:0000324	Facial asymmetry	83990	BRIP1	ORPHA:84
HP:0000324	Facial asymmetry	57697	FANCM	ORPHA:84
HP:0000324	Facial asymmetry	79728	PALB2	ORPHA:84
HP:0000324	Facial asymmetry	84464	SLX4	ORPHA:84
HP:0000324	Facial asymmetry	2072	ERCC4	ORPHA:84
HP:0000324	Facial asymmetry	55215	FANCI	ORPHA:84
HP:0000324	Facial asymmetry	3759	KCNJ2	OMIM:170390
HP:0000324	Facial asymmetry	3759	KCNJ2	ORPHA:37553
HP:0000324	Facial asymmetry	1009	CDH11	OMIM:211380
HP:0000324	Facial asymmetry	444	ASPH	OMIM:601552
HP:0000324	Facial asymmetry	25942	SIN3A	ORPHA:94065
HP:0000324	Facial asymmetry	25942	SIN3A	OMIM:613406
HP:0000324	Facial asymmetry	652	BMP4	OMIM:607932
HP:0000324	Facial asymmetry	1500	CTNND1	OMIM:617681
HP:0000324	Facial asymmetry	4763	NF1	ORPHA:363700
HP:0000324	Facial asymmetry	4297	KMT2A	ORPHA:319182
HP:0000324	Facial asymmetry	10682	EBP	ORPHA:35173
HP:0000324	Facial asymmetry	5813	PURA	ORPHA:438216
HP:0000324	Facial asymmetry	545	ATR	OMIM:210600
HP:0000324	Facial asymmetry	4613	MYCN	OMIM:164280
HP:0000324	Facial asymmetry	4915	NTRK2	OMIM:613886
HP:0000324	Facial asymmetry	208	AKT2	OMIM:240900
HP:0000324	Facial asymmetry	1906	EDN1	ORPHA:137888
HP:0000324	Facial asymmetry	5332	PLCB4	ORPHA:137888
HP:0000324	Facial asymmetry	2773	GNAI3	ORPHA:137888
HP:0000324	Facial asymmetry	2313	FLI1	ORPHA:2308
HP:0000324	Facial asymmetry	84172	POLR1B	OMIM:618939
HP:0000324	Facial asymmetry	9241	NOG	ORPHA:3237
HP:0000324	Facial asymmetry	8200	GDF5	ORPHA:3237
HP:0000324	Facial asymmetry	2254	FGF9	ORPHA:3237
HP:0000324	Facial asymmetry	9935	MAFB	ORPHA:233
HP:0000324	Facial asymmetry	1123	CHN1	ORPHA:233
HP:0000324	Facial asymmetry	64840	PORCN	OMIM:305600
HP:0000324	Facial asymmetry	64840	PORCN	ORPHA:2092
HP:0000324	Facial asymmetry	10801	SEPTIN9	OMIM:162100
HP:0000324	Facial asymmetry	6611	SMS	ORPHA:3063
HP:0000324	Facial asymmetry	6611	SMS	OMIM:309583
HP:0000324	Facial asymmetry	5518	PPP2R1A	OMIM:616362
HP:0000324	Facial asymmetry	5518	PPP2R1A	ORPHA:457284
HP:0000324	Facial asymmetry	5311	PKD2	OMIM:613095
HP:0000324	Facial asymmetry	392255	GDF6	OMIM:118100
HP:0000324	Facial asymmetry	392255	GDF6	ORPHA:2345
HP:0000324	Facial asymmetry	6608	SMO	OMIM:601707
HP:0000324	Facial asymmetry	6608	SMO	ORPHA:1553
HP:0000324	Facial asymmetry	63895	PIEZO2	OMIM:114300
HP:0000324	Facial asymmetry	63895	PIEZO2	ORPHA:376
HP:0000324	Facial asymmetry	1909	EDNRA	OMIM:616367
HP:0000324	Facial asymmetry	6660	SOX5	OMIM:616803
HP:0000324	Facial asymmetry	8239	USP9X	ORPHA:480880
HP:0000324	Facial asymmetry	8239	USP9X	OMIM:300968
HP:0000324	Facial asymmetry	80036	TRPM3	OMIM:620224
HP:0000324	Facial asymmetry	4784	NFIX	ORPHA:420179
HP:0000324	Facial asymmetry	8085	KMT2D	OMIM:620186
HP:0000324	Facial asymmetry	5728	PTEN	ORPHA:744
HP:0000324	Facial asymmetry	207	AKT1	ORPHA:744
HP:0000324	Facial asymmetry	113189	CHST14	OMIM:601776
HP:0000324	Facial asymmetry	7204	TRIO	OMIM:617061
HP:0000324	Facial asymmetry	7204	TRIO	ORPHA:476126
HP:0000324	Facial asymmetry	6495	SIX1	ORPHA:52429
HP:0000324	Facial asymmetry	1277	COL1A1	ORPHA:1310
HP:0000324	Facial asymmetry	8481	OFD1	OMIM:311200
HP:0000324	Facial asymmetry	8481	OFD1	ORPHA:2750
HP:0000324	Facial asymmetry	2542	SLC37A4	OMIM:619525
HP:0000324	Facial asymmetry	2316	FLNA	ORPHA:2484
HP:0000324	Facial asymmetry	6299	SALL1	ORPHA:857
HP:0000324	Facial asymmetry	51339	DACT1	ORPHA:857
HP:0000324	Facial asymmetry	22995	CEP152	OMIM:613823
HP:0000324	Facial asymmetry	6785	ELOVL4	ORPHA:1955
HP:0000324	Facial asymmetry	10984	KCNQ1OT1	ORPHA:2128
HP:0000324	Facial asymmetry	4626	MYH8	OMIM:158300
HP:0000324	Facial asymmetry	4123	MAN2C1	OMIM:619775
HP:0000324	Facial asymmetry	5528	PPP2R5D	ORPHA:457279
HP:0000324	Facial asymmetry	8218	CLTCL1	ORPHA:453510
HP:0000324	Facial asymmetry	7994	KAT6A	OMIM:616268
HP:0000324	Facial asymmetry	51594	NBAS	OMIM:614800
HP:0000324	Facial asymmetry	5718	PSMD12	OMIM:617516
HP:0000324	Facial asymmetry	63916	ELMO2	OMIM:606893
HP:0000324	Facial asymmetry	4621	MYH3	ORPHA:2990
HP:0000324	Facial asymmetry	1146	CHRNG	ORPHA:2990
HP:0000324	Facial asymmetry	3730	ANOS1	OMIM:308700
HP:0000324	Facial asymmetry	57647	DHX37	OMIM:618731
HP:0000324	Facial asymmetry	8621	CDK13	OMIM:617360
HP:0000324	Facial asymmetry	7545	ZIC1	OMIM:618736
HP:0000324	Facial asymmetry	9573	GDF3	ORPHA:2345
HP:0000324	Facial asymmetry	4222	MEOX1	ORPHA:2345
HP:0000324	Facial asymmetry	121340	SP7	OMIM:613849
HP:0000324	Facial asymmetry	3762	KCNJ5	ORPHA:37553
HP:0000324	Facial asymmetry	9990	SLC12A6	OMIM:218000
HP:0000324	Facial asymmetry	4094	MAF	OMIM:601088
HP:0000324	Facial asymmetry	53834	FGFRL1	OMIM:194190
HP:0000324	Facial asymmetry	1487	CTBP1	OMIM:194190
HP:0000324	Facial asymmetry	3954	LETM1	OMIM:194190
HP:0000324	Facial asymmetry	7468	NSD2	OMIM:194190
HP:0000324	Facial asymmetry	10815	CPLX1	OMIM:194190
HP:0000324	Facial asymmetry	22827	PUF60	ORPHA:508488
HP:0000324	Facial asymmetry	387	RHOA	OMIM:618727
HP:0000324	Facial asymmetry	147912	SIX5	OMIM:610896
HP:0000324	Facial asymmetry	10992	SF3B2	OMIM:164210
HP:0000324	Facial asymmetry	23556	PIGN	ORPHA:280633
HP:0010719	Abnormality of hair texture	6448	SGSH	OMIM:252900
HP:0010719	Abnormality of hair texture	5728	PTEN	OMIM:605309
HP:0010719	Abnormality of hair texture	81607	NECTIN4	OMIM:613573
HP:0010719	Abnormality of hair texture	285362	SUMF1	ORPHA:585
HP:0010719	Abnormality of hair texture	55027	HEATR3	OMIM:620072
HP:0010719	Abnormality of hair texture	6720	SREBF1	OMIM:158310
HP:0010719	Abnormality of hair texture	4854	NOTCH3	OMIM:130720
HP:0010719	Abnormality of hair texture	65082	VPS33A	OMIM:617303
HP:0010719	Abnormality of hair texture	84520	GON7	OMIM:619603
HP:0010719	Abnormality of hair texture	54499	TMCO1	ORPHA:1394
HP:0010719	Abnormality of hair texture	2799	GNS	OMIM:252940
HP:0010719	Abnormality of hair texture	6197	RPS6KA3	OMIM:303600
HP:0010719	Abnormality of hair texture	523	ATP6V1A	ORPHA:357074
HP:0010719	Abnormality of hair texture	529	ATP6V1E1	ORPHA:357074
HP:0010719	Abnormality of hair texture	2990	GUSB	OMIM:253220
HP:0010719	Abnormality of hair texture	22800	RRAS2	ORPHA:648
HP:0010719	Abnormality of hair texture	6237	RRAS	ORPHA:648
HP:0010719	Abnormality of hair texture	22808	MRAS	ORPHA:648
HP:0010719	Abnormality of hair texture	5922	RASA2	ORPHA:648
HP:0010719	Abnormality of hair texture	138050	HGSNAT	OMIM:252930
HP:0010719	Abnormality of hair texture	79574	EPS8L3	ORPHA:444
HP:0010719	Abnormality of hair texture	55806	HR	ORPHA:444
HP:0010719	Abnormality of hair texture	497661	C18orf32	OMIM:619985
HP:0010719	Abnormality of hair texture	8985	PLOD3	OMIM:612394
HP:0010719	Abnormality of hair texture	10682	EBP	ORPHA:35173
HP:0010719	Abnormality of hair texture	2316	FLNA	OMIM:309350
HP:0010719	Abnormality of hair texture	4669	NAGLU	OMIM:252920
HP:0010719	Abnormality of hair texture	4853	NOTCH2	ORPHA:955
HP:0010719	Abnormality of hair texture	3265	HRAS	ORPHA:79414
HP:0010719	Abnormality of hair texture	3265	HRAS	OMIM:218040
HP:0010719	Abnormality of hair texture	8036	SHOC2	OMIM:607721
HP:0010719	Abnormality of hair texture	1947	EFNB1	OMIM:304110
HP:0010719	Abnormality of hair texture	8367	H4C5	OMIM:619950
HP:0010719	Abnormality of hair texture	7062	TCHH	OMIM:617252
HP:0010719	Abnormality of hair texture	57003	CCDC47	OMIM:618268
HP:0010719	Abnormality of hair texture	56896	DPYSL5	OMIM:619435
HP:0010719	Abnormality of hair texture	8216	LZTR1	OMIM:616564
HP:0010719	Abnormality of hair texture	8216	LZTR1	OMIM:605275
HP:0010719	Abnormality of hair texture	147183	KRT25	OMIM:616760
HP:0010719	Abnormality of hair texture	54101	RIPK4	ORPHA:1401
HP:0010719	Abnormality of hair texture	54101	RIPK4	OMIM:214350
HP:0010719	Abnormality of hair texture	3845	KRAS	OMIM:615278
HP:0010719	Abnormality of hair texture	27125	AFF4	OMIM:616368
HP:0010719	Abnormality of hair texture	27125	AFF4	ORPHA:444077
HP:0010719	Abnormality of hair texture	6016	RIT1	OMIM:615355
HP:0010719	Abnormality of hair texture	5604	MAP2K1	OMIM:615279
HP:0010719	Abnormality of hair texture	8239	USP9X	ORPHA:480880
HP:0010719	Abnormality of hair texture	5894	RAF1	OMIM:611554
HP:0010719	Abnormality of hair texture	5894	RAF1	OMIM:611553
HP:0010719	Abnormality of hair texture	673	BRAF	OMIM:115150
HP:0010719	Abnormality of hair texture	673	BRAF	OMIM:613707
HP:0010719	Abnormality of hair texture	673	BRAF	OMIM:613706
HP:0010719	Abnormality of hair texture	5605	MAP2K2	OMIM:615280
HP:0010719	Abnormality of hair texture	3728	JUP	OMIM:601214
HP:0010719	Abnormality of hair texture	3728	JUP	ORPHA:34217
HP:0010719	Abnormality of hair texture	6651	SON	OMIM:617140
HP:0010719	Abnormality of hair texture	6651	SON	ORPHA:500150
HP:0010719	Abnormality of hair texture	4893	NRAS	OMIM:613224
HP:0010719	Abnormality of hair texture	5500	PPP1CB	OMIM:617506
HP:0010719	Abnormality of hair texture	10430	TMEM147	OMIM:620075
HP:0010719	Abnormality of hair texture	9652	SKIC3	OMIM:222470
HP:0010719	Abnormality of hair texture	8139	GAN	OMIM:256850
HP:0010719	Abnormality of hair texture	2697	GJA1	ORPHA:2710
HP:0010719	Abnormality of hair texture	6768	ST14	OMIM:602400
HP:0010719	Abnormality of hair texture	10087	CERT1	OMIM:616351
HP:0010719	Abnormality of hair texture	8621	CDK13	OMIM:617360
HP:0010719	Abnormality of hair texture	3188	HNRNPH2	OMIM:300986
HP:0010719	Abnormality of hair texture	2475	MTOR	ORPHA:457485
HP:0010719	Abnormality of hair texture	2475	MTOR	OMIM:616638
HP:0010719	Abnormality of hair texture	2783	GNB2	OMIM:619503
HP:0010719	Abnormality of hair texture	200734	SPRED2	OMIM:619745
HP:0010719	Abnormality of hair texture	6655	SOS2	OMIM:616559
HP:0010719	Abnormality of hair texture	6654	SOS1	OMIM:610733
HP:0010719	Abnormality of hair texture	4487	MSX1	OMIM:189500
HP:0010719	Abnormality of hair texture	4487	MSX1	ORPHA:2228
HP:0010719	Abnormality of hair texture	26277	TINF2	OMIM:268130
HP:0010719	Abnormality of hair texture	26277	TINF2	OMIM:613990
HP:0010719	Abnormality of hair texture	60529	ALX4	OMIM:613451
HP:0010719	Abnormality of hair texture	60529	ALX4	ORPHA:228390
HP:0010719	Abnormality of hair texture	100151683	RNU4ATAC	OMIM:210710
HP:0010719	Abnormality of hair texture	2972	BRF1	OMIM:616202
HP:0010719	Abnormality of hair texture	2972	BRF1	ORPHA:444072
HP:0010719	Abnormality of hair texture	23314	SATB2	ORPHA:251028
HP:0010719	Abnormality of hair texture	23314	SATB2	ORPHA:251019
HP:0010719	Abnormality of hair texture	5831	PYCR1	OMIM:614438
HP:0010719	Abnormality of hair texture	4952	OCRL	ORPHA:534
HP:0010719	Abnormality of hair texture	147409	DSG4	ORPHA:573
HP:0010719	Abnormality of hair texture	3892	KRT86	ORPHA:573
HP:0010719	Abnormality of hair texture	3889	KRT83	ORPHA:573
HP:0010719	Abnormality of hair texture	3887	KRT81	ORPHA:573
HP:0010719	Abnormality of hair texture	79158	GNPTAB	ORPHA:576
HP:0010719	Abnormality of hair texture	1896	EDA	OMIM:305100
HP:0010719	Abnormality of hair texture	112802	KRT71	ORPHA:170
HP:0010719	Abnormality of hair texture	121391	KRT74	ORPHA:170
HP:0010719	Abnormality of hair texture	121391	KRT74	ORPHA:90368
HP:0010719	Abnormality of hair texture	200879	LIPH	ORPHA:170
HP:0010719	Abnormality of hair texture	10161	LPAR6	ORPHA:170
HP:0010719	Abnormality of hair texture	51132	RLIM	OMIM:300978
HP:0010719	Abnormality of hair texture	215	ABCD1	ORPHA:139399
HP:0010719	Abnormality of hair texture	8260	NAA10	OMIM:300855
HP:0010719	Abnormality of hair texture	8260	NAA10	ORPHA:276432
HP:0010719	Abnormality of hair texture	80326	WNT10A	OMIM:257980
HP:0010719	Abnormality of hair texture	80326	WNT10A	ORPHA:248
HP:0010719	Abnormality of hair texture	55764	IFT122	OMIM:218330
HP:0010719	Abnormality of hair texture	10804	GJB6	OMIM:129500
HP:0010719	Abnormality of hair texture	10804	GJB6	ORPHA:189
HP:0010719	Abnormality of hair texture	6821	SUOX	OMIM:272300
HP:0010719	Abnormality of hair texture	9056	SLC7A7	OMIM:222700
HP:0010719	Abnormality of hair texture	2068	ERCC2	OMIM:601675
HP:0010719	Abnormality of hair texture	833	CARS1	OMIM:618891
HP:0010719	Abnormality of hair texture	1001	CDH3	ORPHA:1573
HP:0010719	Abnormality of hair texture	25942	SIN3A	OMIM:613406
HP:0010719	Abnormality of hair texture	25942	SIN3A	ORPHA:500166
HP:0010719	Abnormality of hair texture	10522	DEAF1	OMIM:615828
HP:0010719	Abnormality of hair texture	9487	PIGL	ORPHA:3474
HP:0010719	Abnormality of hair texture	9487	PIGL	OMIM:280000
HP:0010719	Abnormality of hair texture	3981	LIG4	ORPHA:235
HP:0010719	Abnormality of hair texture	54888	NSUN2	ORPHA:235
HP:0010719	Abnormality of hair texture	7840	ALMS1	ORPHA:64
HP:0010719	Abnormality of hair texture	1041	CDSN	ORPHA:90368
HP:0010719	Abnormality of hair texture	6023	RMRP	OMIM:250250
HP:0010719	Abnormality of hair texture	8626	TP63	OMIM:129400
HP:0010719	Abnormality of hair texture	8626	TP63	ORPHA:978
HP:0010719	Abnormality of hair texture	8626	TP63	ORPHA:1896
HP:0010719	Abnormality of hair texture	3675	ITGA3	OMIM:614748
HP:0010719	Abnormality of hair texture	128178	EDARADD	OMIM:129490
HP:0010719	Abnormality of hair texture	128178	EDARADD	ORPHA:248
HP:0010719	Abnormality of hair texture	10913	EDAR	OMIM:129490
HP:0010719	Abnormality of hair texture	10913	EDAR	ORPHA:248
HP:0010719	Abnormality of hair texture	284252	KCTD1	OMIM:181270
HP:0010719	Abnormality of hair texture	57459	GATAD2B	ORPHA:363686
HP:0010719	Abnormality of hair texture	4089	SMAD4	OMIM:139210
HP:0010719	Abnormality of hair texture	23522	KAT6B	ORPHA:85201
HP:0010719	Abnormality of hair texture	54676	GTPBP2	OMIM:617988
HP:0010719	Abnormality of hair texture	50485	SMARCAL1	OMIM:242900
HP:0010719	Abnormality of hair texture	9968	MED12	OMIM:305450
HP:0010719	Abnormality of hair texture	84919	PPP1R15B	OMIM:616817
HP:0010719	Abnormality of hair texture	84919	PPP1R15B	ORPHA:391408
HP:0010719	Abnormality of hair texture	93587	TRMT10A	ORPHA:391408
HP:0010719	Abnormality of hair texture	5116	PCNT	ORPHA:2637
HP:0010719	Abnormality of hair texture	51594	NBAS	OMIM:614800
HP:0010719	Abnormality of hair texture	2146	EZH2	OMIM:277590
HP:0010719	Abnormality of hair texture	2146	EZH2	ORPHA:3447
HP:0010719	Abnormality of hair texture	1476	CSTB	ORPHA:248
HP:0010719	Abnormality of hair texture	3242	HPD	ORPHA:2118
HP:0010719	Abnormality of hair texture	117581	TWIST2	ORPHA:920
HP:0010719	Abnormality of hair texture	64324	NSD1	ORPHA:3447
HP:0010719	Abnormality of hair texture	8726	EED	ORPHA:3447
HP:0010719	Abnormality of hair texture	23512	SUZ12	ORPHA:3447
HP:0010719	Abnormality of hair texture	57539	WDR35	OMIM:614091
HP:0010719	Abnormality of hair texture	80067	DCAF17	OMIM:241080
HP:0010719	Abnormality of hair texture	23309	SIN3B	ORPHA:500166
HP:0010719	Abnormality of hair texture	112752	IFT43	OMIM:614099
HP:0010719	Abnormality of hair texture	80169	CTC1	OMIM:612199
HP:0010719	Abnormality of hair texture	867	CBL	OMIM:613563
HP:0010719	Abnormality of hair texture	7227	TRPS1	OMIM:190350
HP:0010719	Abnormality of hair texture	81603	TRIM8	OMIM:619428
HP:0010719	Abnormality of hair texture	8517	IKBKG	OMIM:308300
HP:0010719	Abnormality of hair texture	1281	COL3A1	ORPHA:2500
HP:0010719	Abnormality of hair texture	11005	SPINK5	ORPHA:634
HP:0010719	Abnormality of hair texture	16	AARS1	OMIM:619691
HP:0010719	Abnormality of hair texture	6499	SKIC2	OMIM:614602
HP:0010719	Abnormality of hair texture	6499	SKIC2	ORPHA:84064
HP:0010719	Abnormality of hair texture	538	ATP7A	ORPHA:565
HP:0010719	Abnormality of hair texture	136647	MPLKIP	OMIM:234050
HP:0010719	Abnormality of hair texture	1832	DSP	OMIM:605676
HP:0010719	Abnormality of hair texture	1832	DSP	ORPHA:65282
HP:0010719	Abnormality of hair texture	1832	DSP	OMIM:615821
HP:0010719	Abnormality of hair texture	1832	DSP	OMIM:607450
HP:0010719	Abnormality of hair texture	7286	TUFT1	OMIM:607655
HP:0010719	Abnormality of hair texture	1829	DSG2	OMIM:610193
HP:0010719	Abnormality of hair texture	91875	TTC5	OMIM:619244
HP:0010719	Abnormality of hair texture	25959	KANK2	OMIM:616099
HP:0010719	Abnormality of hair texture	64065	PERP	OMIM:619209
HP:0010719	Abnormality of hair texture	64065	PERP	OMIM:619208
HP:0010719	Abnormality of hair texture	51702	PADI3	ORPHA:1410
HP:0010719	Abnormality of hair texture	7053	TGM3	ORPHA:1410
HP:0010719	Abnormality of hair texture	1824	DSC2	OMIM:610476
HP:0010719	Abnormality of hair texture	5781	PTPN11	OMIM:163950
HP:0010719	Abnormality of hair texture	64840	PORCN	OMIM:305600
HP:0010719	Abnormality of hair texture	10269	ZMPSTE24	OMIM:608612
HP:0010719	Abnormality of hair texture	51095	TRNT1	OMIM:616084
HP:0010719	Abnormality of hair texture	7737	RNF113A	OMIM:300953
HP:0010719	Abnormality of hair texture	7737	RNF113A	ORPHA:33364
HP:0010719	Abnormality of hair texture	6228	RPS23	OMIM:617412
HP:0010719	Abnormality of hair texture	435	ASL	OMIM:207900
HP:0010719	Abnormality of hair texture	6897	TARS1	OMIM:618546
HP:0010719	Abnormality of hair texture	6897	TARS1	ORPHA:33364
HP:0010719	Abnormality of hair texture	3891	KRT85	OMIM:602032
HP:0010719	Abnormality of hair texture	23545	ATP6V0A2	OMIM:219200
HP:0010719	Abnormality of hair texture	10084	PQBP1	ORPHA:93947
HP:0010719	Abnormality of hair texture	10084	PQBP1	OMIM:309500
HP:0010719	Abnormality of hair texture	617	BCS1L	OMIM:124000
HP:0010719	Abnormality of hair texture	617	BCS1L	ORPHA:123
HP:0010719	Abnormality of hair texture	617	BCS1L	OMIM:262000
HP:0010719	Abnormality of hair texture	29957	SLC25A24	ORPHA:2963
HP:0010719	Abnormality of hair texture	83999	KREMEN1	OMIM:617392
HP:0010719	Abnormality of hair texture	4784	NFIX	OMIM:602535
HP:0010719	Abnormality of hair texture	10484	SEC23A	ORPHA:50814
HP:0010719	Abnormality of hair texture	10484	SEC23A	OMIM:607812
HP:0010719	Abnormality of hair texture	57479	PRR12	OMIM:619539
HP:0010719	Abnormality of hair texture	5818	NECTIN1	OMIM:225060
HP:0010719	Abnormality of hair texture	2961	GTF2E2	OMIM:616943
HP:0010719	Abnormality of hair texture	2961	GTF2E2	ORPHA:33364
HP:0010719	Abnormality of hair texture	875	CBS	OMIM:236200
HP:0010719	Abnormality of hair texture	404672	GTF2H5	ORPHA:33364
HP:0010719	Abnormality of hair texture	404672	GTF2H5	OMIM:616395
HP:0010719	Abnormality of hair texture	2071	ERCC3	ORPHA:33364
HP:0010719	Abnormality of hair texture	8481	OFD1	ORPHA:2750
HP:0010719	Abnormality of hair texture	222663	SCUBE3	OMIM:619184
HP:0010719	Abnormality of hair texture	55210	ATAD3A	OMIM:618810
HP:0010719	Abnormality of hair texture	191	AHCY	ORPHA:88618
HP:0010719	Abnormality of hair texture	284058	KANSL1	OMIM:610443
HP:0010719	Abnormality of hair texture	26227	PHGDH	ORPHA:79351
HP:0010719	Abnormality of hair texture	79583	TMEM231	ORPHA:2752
HP:0010719	Abnormality of hair texture	10312	TCIRG1	ORPHA:667
HP:0010719	Abnormality of hair texture	1186	CLCN7	ORPHA:667
HP:0010719	Abnormality of hair texture	29887	SNX10	ORPHA:667
HP:0010719	Abnormality of hair texture	8600	TNFSF11	ORPHA:667
HP:0010719	Abnormality of hair texture	2074	ERCC6	OMIM:133540
HP:0010719	Abnormality of hair texture	2074	ERCC6	ORPHA:90324
HP:0010719	Abnormality of hair texture	6595	SMARCA2	OMIM:601358
HP:0010719	Abnormality of hair texture	57492	ARID1B	OMIM:135900
HP:0010719	Abnormality of hair texture	54914	FOCAD	OMIM:619991
HP:0010719	Abnormality of hair texture	6144	RPL21	OMIM:615885
HP:0010719	Abnormality of hair texture	1161	ERCC8	ORPHA:90324
HP:0010719	Abnormality of hair texture	1161	ERCC8	OMIM:216400
HP:0010719	Abnormality of hair texture	374969	SVBP	OMIM:618569
HP:0010719	Abnormality of hair texture	3872	KRT17	OMIM:167210
HP:0010719	Abnormality of hair texture	120766137	HRURF	OMIM:146550
HP:0003777	Pili torti	6768	ST14	OMIM:602400
HP:0003777	Pili torti	1001	CDH3	OMIM:601553
HP:0003777	Pili torti	1001	CDH3	ORPHA:1573
HP:0003777	Pili torti	147409	DSG4	OMIM:607903
HP:0003777	Pili torti	2068	ERCC2	OMIM:601675
HP:0003777	Pili torti	617	BCS1L	OMIM:262000
HP:0003777	Pili torti	341208	HEPHL1	OMIM:261990
HP:0003777	Pili torti	81607	NECTIN4	OMIM:613573
HP:0003777	Pili torti	5818	NECTIN1	ORPHA:3253
HP:0003777	Pili torti	5189	PEX1	ORPHA:3220
HP:0003777	Pili torti	5190	PEX6	ORPHA:3220
HP:0003777	Pili torti	538	ATP7A	OMIM:304150
HP:0003777	Pili torti	4000	LMNA	ORPHA:79474
HP:0003777	Pili torti	7486	WRN	ORPHA:902
HP:0003777	Pili torti	3891	KRT85	OMIM:602032
HP:0003778	Short mandibular rami	4784	NFIX	OMIM:602535
HP:0003778	Short mandibular rami	3759	KCNJ2	OMIM:170390
HP:0003778	Short mandibular rami	3166	HMX1	OMIM:612109
HP:0003778	Short mandibular rami	5332	PLCB4	OMIM:614669
HP:0003778	Short mandibular rami	5332	PLCB4	ORPHA:137888
HP:0003778	Short mandibular rami	1906	EDN1	ORPHA:137888
HP:0003778	Short mandibular rami	2773	GNAI3	ORPHA:137888
HP:0003778	Short mandibular rami	2773	GNAI3	OMIM:602483
HP:0003779	Antegonial notching of mandible	2316	FLNA	OMIM:305620
HP:0003779	Antegonial notching of mandible	3759	KCNJ2	OMIM:170390
HP:0004331	Decreased skull ossification	3930	LBR	OMIM:215140
HP:0004331	Decreased skull ossification	3930	LBR	ORPHA:1426
HP:0004331	Decreased skull ossification	9321	TRIP11	OMIM:200600
HP:0004331	Decreased skull ossification	6905	TBCE	OMIM:244460
HP:0004331	Decreased skull ossification	6905	TBCE	ORPHA:93324
HP:0004331	Decreased skull ossification	10484	SEC23A	ORPHA:50814
HP:0004331	Decreased skull ossification	4000	LMNA	ORPHA:1662
HP:0004331	Decreased skull ossification	10269	ZMPSTE24	ORPHA:1662
HP:0004331	Decreased skull ossification	2132	EXT2	ORPHA:52022
HP:0004331	Decreased skull ossification	60529	ALX4	ORPHA:52022
HP:0004331	Decreased skull ossification	51317	PHF21A	ORPHA:52022
HP:0004331	Decreased skull ossification	9896	FIG4	OMIM:216340
HP:0004331	Decreased skull ossification	9896	FIG4	ORPHA:3472
HP:0004331	Decreased skull ossification	55697	VAC14	ORPHA:3472
HP:0004331	Decreased skull ossification	10013	HDAC6	OMIM:300863
HP:0004331	Decreased skull ossification	79796	ALG9	OMIM:263210
HP:0004331	Decreased skull ossification	202018	TAPT1	OMIM:616897
HP:0004331	Decreased skull ossification	4352	MPL	ORPHA:3319
HP:0004331	Decreased skull ossification	7066	THPO	ORPHA:3319
HP:0004331	Decreased skull ossification	860	RUNX2	ORPHA:1452
HP:0004331	Decreased skull ossification	84168	ANTXR1	ORPHA:2067
HP:0004331	Decreased skull ossification	4853	NOTCH2	ORPHA:955
HP:0004331	Decreased skull ossification	60386	SLC25A19	ORPHA:99742
HP:0004331	Decreased skull ossification	63901	FAM111A	ORPHA:93325
HP:0004331	Decreased skull ossification	63901	FAM111A	OMIM:602361
HP:0004331	Decreased skull ossification	29957	SLC25A24	ORPHA:2963
HP:0004331	Decreased skull ossification	168667	BMPER	OMIM:608022
HP:0004331	Decreased skull ossification	64175	P3H1	OMIM:610915
HP:0004331	Decreased skull ossification	1280	COL2A1	OMIM:151210
HP:0004331	Decreased skull ossification	249	ALPL	OMIM:241500
HP:0004331	Decreased skull ossification	2263	FGFR2	OMIM:614592
HP:0004331	Decreased skull ossification	2263	FGFR2	ORPHA:313855
HP:0004331	Decreased skull ossification	5530	PPP3CA	OMIM:618265
HP:0004331	Decreased skull ossification	112752	IFT43	OMIM:617866
HP:0004331	Decreased skull ossification	10491	CRTAP	OMIM:610682
HP:0004331	Decreased skull ossification	27152	INTU	OMIM:617925
HP:0004331	Decreased skull ossification	90993	CREB3L1	OMIM:616229
HP:0004331	Decreased skull ossification	79770	TXNDC15	OMIM:619879
HP:0004331	Decreased skull ossification	7476	WNT7A	OMIM:276820
HP:0004331	Decreased skull ossification	5479	PPIB	OMIM:259440
HP:0004331	Decreased skull ossification	871	SERPINH1	OMIM:613848
HP:0004331	Decreased skull ossification	3911	LAMA5	OMIM:620076
HP:0004331	Decreased skull ossification	1277	COL1A1	OMIM:166210
HP:0004331	Decreased skull ossification	1278	COL1A2	OMIM:166210
HP:0003781	Excessive salivation	2137	EXTL3	ORPHA:508533
HP:0003781	Excessive salivation	84706	GPT2	OMIM:616281
HP:0003781	Excessive salivation	84706	GPT2	ORPHA:477673
HP:0003781	Excessive salivation	55906	ZC4H2	OMIM:301041
HP:0003781	Excessive salivation	55906	ZC4H2	OMIM:314580
HP:0003781	Excessive salivation	23111	SPART	OMIM:275900
HP:0003781	Excessive salivation	23141	ANKLE2	OMIM:616681
HP:0003781	Excessive salivation	23013	SPEN	OMIM:619312
HP:0003781	Excessive salivation	340533	NEXMIF	OMIM:300912
HP:0003781	Excessive salivation	9759	HDAC4	OMIM:619797
HP:0003781	Excessive salivation	51126	NAA20	OMIM:619717
HP:0003781	Excessive salivation	10059	DNM1L	OMIM:614388
HP:0003781	Excessive salivation	23314	SATB2	ORPHA:251028
HP:0003781	Excessive salivation	23314	SATB2	ORPHA:576283
HP:0003781	Excessive salivation	92335	STRADA	ORPHA:500533
HP:0003781	Excessive salivation	9839	ZEB2	OMIM:235730
HP:0003781	Excessive salivation	10159	ATP6AP2	ORPHA:93952
HP:0003781	Excessive salivation	10159	ATP6AP2	OMIM:300423
HP:0003781	Excessive salivation	478	ATP1A3	OMIM:128235
HP:0003781	Excessive salivation	478	ATP1A3	OMIM:619606
HP:0003781	Excessive salivation	478	ATP1A3	ORPHA:71517
HP:0003781	Excessive salivation	10479	SLC9A6	OMIM:300243
HP:0003781	Excessive salivation	6567	SLC16A2	OMIM:300523
HP:0003781	Excessive salivation	55209	SETD5	OMIM:615761
HP:0003781	Excessive salivation	9442	MED27	OMIM:619286
HP:0003781	Excessive salivation	283489	CHAMP1	OMIM:616579
HP:0003781	Excessive salivation	3097	HIVEP2	OMIM:616977
HP:0003781	Excessive salivation	5010	CLDN11	OMIM:619328
HP:0003781	Excessive salivation	23431	AP4E1	OMIM:613744
HP:0003781	Excessive salivation	23431	AP4E1	ORPHA:280763
HP:0003781	Excessive salivation	9179	AP4M1	OMIM:612936
HP:0003781	Excessive salivation	9179	AP4M1	ORPHA:280763
HP:0003781	Excessive salivation	2192	FBLN1	ORPHA:404451
HP:0003781	Excessive salivation	84679	SLC9A7	OMIM:301024
HP:0003781	Excessive salivation	6595	SMARCA2	OMIM:619293
HP:0003781	Excessive salivation	6595	SMARCA2	OMIM:601358
HP:0003781	Excessive salivation	7337	UBE3A	ORPHA:98794
HP:0003781	Excessive salivation	7337	UBE3A	OMIM:105830
HP:0003781	Excessive salivation	7337	UBE3A	ORPHA:411511
HP:0003781	Excessive salivation	7337	UBE3A	ORPHA:411515
HP:0003781	Excessive salivation	4948	OCA2	ORPHA:98794
HP:0003781	Excessive salivation	55777	MBD5	OMIM:156200
HP:0003781	Excessive salivation	4784	NFIX	OMIM:602535
HP:0003781	Excessive salivation	56992	KIF15	ORPHA:261323
HP:0003781	Excessive salivation	8925	HERC1	ORPHA:457359
HP:0003781	Excessive salivation	84340	GFM2	ORPHA:565624
HP:0003781	Excessive salivation	84340	GFM2	OMIM:618397
HP:0003781	Excessive salivation	10588	MTHFS	OMIM:618367
HP:0003781	Excessive salivation	63035	BCORL1	OMIM:301029
HP:0003781	Excessive salivation	9968	MED12	ORPHA:93932
HP:0003781	Excessive salivation	93986	FOXP2	ORPHA:209908
HP:0003781	Excessive salivation	51319	RSRC1	OMIM:618402
HP:0003781	Excessive salivation	311	ANXA11	OMIM:619733
HP:0003781	Excessive salivation	9378	NRXN1	OMIM:614325
HP:0003781	Excessive salivation	8398	PLA2G6	ORPHA:35069
HP:0003781	Excessive salivation	8604	SLC25A12	OMIM:612949
HP:0003781	Excessive salivation	2898	GRIK2	OMIM:619580
HP:0003781	Excessive salivation	7703	PCGF2	OMIM:618371
HP:0003781	Excessive salivation	6899	TBX1	OMIM:188400
HP:0003781	Excessive salivation	80856	LNPK	OMIM:618090
HP:0003781	Excessive salivation	84823	LMNB2	OMIM:619180
HP:0003781	Excessive salivation	10087	CERT1	OMIM:616351
HP:0003781	Excessive salivation	5631	PRPS1	OMIM:301835
HP:0003781	Excessive salivation	2906	GRIN2D	OMIM:617162
HP:0003781	Excessive salivation	3188	HNRNPH2	OMIM:300986
HP:0003781	Excessive salivation	128989	TANGO2	OMIM:616878
HP:0003781	Excessive salivation	6304	SATB1	OMIM:619229
HP:0003781	Excessive salivation	10522	DEAF1	OMIM:617171
HP:0003781	Excessive salivation	10522	DEAF1	ORPHA:468620
HP:0003781	Excessive salivation	10717	AP4B1	OMIM:614066
HP:0003781	Excessive salivation	10717	AP4B1	ORPHA:280763
HP:0003781	Excessive salivation	27107	ZBTB11	OMIM:618383
HP:0003781	Excessive salivation	11154	AP4S1	OMIM:614067
HP:0003781	Excessive salivation	11154	AP4S1	ORPHA:280763
HP:0003781	Excessive salivation	10846	PDE10A	ORPHA:494526
HP:0003781	Excessive salivation	10846	PDE10A	OMIM:616921
HP:0003781	Excessive salivation	5063	PAK3	OMIM:300558
HP:0003781	Excessive salivation	6711	SPTBN1	OMIM:619475
HP:0003781	Excessive salivation	3747	KCNC2	OMIM:619913
HP:0003781	Excessive salivation	27286	SRPX2	ORPHA:163721
HP:0003781	Excessive salivation	27286	SRPX2	ORPHA:98889
HP:0003781	Excessive salivation	27286	SRPX2	ORPHA:1945
HP:0003781	Excessive salivation	2903	GRIN2A	ORPHA:163721
HP:0003781	Excessive salivation	2903	GRIN2A	ORPHA:1945
HP:0003781	Excessive salivation	4361	MRE11	ORPHA:251347
HP:0003781	Excessive salivation	9289	ADGRG1	ORPHA:98889
HP:0003781	Excessive salivation	5297	PI4KA	ORPHA:98889
HP:0003781	Excessive salivation	6638	SNRPN	OMIM:105830
HP:0003781	Excessive salivation	6638	SNRPN	ORPHA:411515
HP:0003781	Excessive salivation	6335	SCN9A	ORPHA:33069
HP:0003781	Excessive salivation	6326	SCN2A	ORPHA:33069
HP:0003781	Excessive salivation	2554	GABRA1	ORPHA:33069
HP:0003781	Excessive salivation	6323	SCN1A	ORPHA:33069
HP:0003781	Excessive salivation	6324	SCN1B	ORPHA:33069
HP:0003781	Excessive salivation	57526	PCDH19	ORPHA:33069
HP:0003781	Excessive salivation	2566	GABRG2	ORPHA:33069
HP:0003781	Excessive salivation	2566	GABRG2	ORPHA:1945
HP:0003781	Excessive salivation	11128	POLR3A	ORPHA:447896
HP:0003781	Excessive salivation	11128	POLR3A	OMIM:607694
HP:0003781	Excessive salivation	1737	DLAT	OMIM:245348
HP:0003781	Excessive salivation	55617	TASP1	OMIM:618950
HP:0003781	Excessive salivation	4841	NONO	OMIM:300967
HP:0003781	Excessive salivation	6472	SHMT2	OMIM:619121
HP:0003781	Excessive salivation	23230	VPS13A	OMIM:200150
HP:0003781	Excessive salivation	347733	TUBB2B	OMIM:610031
HP:0003781	Excessive salivation	23261	CAMTA1	OMIM:614756
HP:0003781	Excessive salivation	5376	PMP22	ORPHA:98916
HP:0003781	Excessive salivation	6509	SLC1A4	OMIM:616657
HP:0003781	Excessive salivation	8911	CACNA1I	OMIM:620114
HP:0003781	Excessive salivation	388015	RTL1	ORPHA:96334
HP:0003781	Excessive salivation	8788	DLK1	ORPHA:96334
HP:0003781	Excessive salivation	55384	MEG3	ORPHA:96334
HP:0003781	Excessive salivation	540	ATP7B	OMIM:277900
HP:0003781	Excessive salivation	9568	GABBR2	OMIM:617904
HP:0003781	Excessive salivation	2799	GNS	OMIM:252940
HP:0003781	Excessive salivation	84628	NTNG2	OMIM:618718
HP:0003781	Excessive salivation	55739	NAXD	OMIM:618321
HP:0003781	Excessive salivation	259232	NALCN	OMIM:616266
HP:0003781	Excessive salivation	27086	FOXP1	OMIM:613670
HP:0003781	Excessive salivation	57679	ALS2	OMIM:205100
HP:0003781	Excessive salivation	546	ATRX	OMIM:309580
HP:0003781	Excessive salivation	5455	POU3F3	OMIM:618604
HP:0003781	Excessive salivation	9487	PIGL	OMIM:280000
HP:0003781	Excessive salivation	8831	SYNGAP1	OMIM:612621
HP:0003781	Excessive salivation	23219	FBXO28	OMIM:619777
HP:0003781	Excessive salivation	84842	HPDL	OMIM:619026
HP:0003781	Excessive salivation	1968	EIF2S3	OMIM:300148
HP:0003781	Excessive salivation	170302	ARX	OMIM:300419
HP:0003781	Excessive salivation	79628	SH3TC2	ORPHA:99949
HP:0003781	Excessive salivation	9230	RAB11B	OMIM:617807
HP:0003781	Excessive salivation	57194	ATP10A	ORPHA:411515
HP:0003781	Excessive salivation	55703	POLR3B	OMIM:607694
HP:0003781	Excessive salivation	5805	PTS	ORPHA:13
HP:0003781	Excessive salivation	5805	PTS	OMIM:261640
HP:0003781	Excessive salivation	3106	HLA-B	ORPHA:36426
HP:0003781	Excessive salivation	10320	IKZF1	ORPHA:36426
HP:0003781	Excessive salivation	4204	MECP2	OMIM:300055
HP:0003781	Excessive salivation	5860	QDPR	OMIM:261630
HP:0003781	Excessive salivation	55697	VAC14	OMIM:617054
HP:0003781	Excessive salivation	2290	FOXG1	ORPHA:261144
HP:0003781	Excessive salivation	374654	KIF7	OMIM:200990
HP:0003781	Excessive salivation	57468	SLC12A5	OMIM:616645
HP:0003781	Excessive salivation	2643	GCH1	OMIM:233910
HP:0003781	Excessive salivation	9256	TSPOAP1	ORPHA:101150
HP:0003781	Excessive salivation	7054	TH	ORPHA:101150
HP:0003782	Eunuchoid habitus	2260	FGFR1	ORPHA:432
HP:0003782	Eunuchoid habitus	81848	SPRY4	ORPHA:432
HP:0003782	Eunuchoid habitus	128674	PROKR2	ORPHA:432
HP:0003782	Eunuchoid habitus	2253	FGF8	ORPHA:432
HP:0003782	Eunuchoid habitus	60675	PROK2	ORPHA:432
HP:0003782	Eunuchoid habitus	55636	CHD7	ORPHA:432
HP:0003782	Eunuchoid habitus	6870	TACR3	ORPHA:432
HP:0003782	Eunuchoid habitus	1848	DUSP6	ORPHA:432
HP:0003782	Eunuchoid habitus	26012	NSMF	ORPHA:432
HP:0003782	Eunuchoid habitus	55717	WDR11	ORPHA:432
HP:0003782	Eunuchoid habitus	9394	HS6ST1	ORPHA:432
HP:0003782	Eunuchoid habitus	2796	GNRH1	ORPHA:432
HP:0003782	Eunuchoid habitus	2798	GNRHR	ORPHA:432
HP:0003782	Eunuchoid habitus	84634	KISS1R	ORPHA:432
HP:0003782	Eunuchoid habitus	6866	TAC3	ORPHA:432
HP:0003782	Eunuchoid habitus	8822	FGF17	ORPHA:432
HP:0003782	Eunuchoid habitus	3814	KISS1	ORPHA:432
HP:0003782	Eunuchoid habitus	3730	ANOS1	OMIM:308700
HP:0003782	Eunuchoid habitus	10382	TUBB4A	ORPHA:98805
HP:0003782	Eunuchoid habitus	2100	ESR2	OMIM:618187
HP:0003782	Eunuchoid habitus	1588	CYP19A1	ORPHA:91
HP:0008796	Femoral retroversion	60	ACTB	ORPHA:79107
HP:0008796	Femoral retroversion	60	ACTB	OMIM:607371
HP:0008796	Femoral retroversion	10491	CRTAP	OMIM:610682
HP:0008796	Femoral retroversion	5297	PI4KA	OMIM:616531
HP:0008796	Femoral retroversion	64175	P3H1	OMIM:610915
HP:0003784	Type 1 collagen overmodification	64175	P3H1	OMIM:610915
HP:0003785	Decreased CSF homovanillic acid concentration	2643	GCH1	ORPHA:98808
HP:0003785	Decreased CSF homovanillic acid concentration	4929	NR4A2	ORPHA:98808
HP:0003785	Decreased CSF homovanillic acid concentration	4929	NR4A2	OMIM:619911
HP:0003785	Decreased CSF homovanillic acid concentration	3615	IMPDH2	ORPHA:98808
HP:0003785	Decreased CSF homovanillic acid concentration	7054	TH	OMIM:605407
HP:0003785	Decreased CSF homovanillic acid concentration	7054	TH	ORPHA:101150
HP:0003785	Decreased CSF homovanillic acid concentration	55163	PNPO	ORPHA:79096
HP:0003785	Decreased CSF homovanillic acid concentration	55163	PNPO	OMIM:610090
HP:0003785	Decreased CSF homovanillic acid concentration	5805	PTS	OMIM:261640
HP:0003785	Decreased CSF homovanillic acid concentration	1644	DDC	OMIM:608643
HP:0003785	Decreased CSF homovanillic acid concentration	9256	TSPOAP1	ORPHA:101150
HP:0003785	Decreased CSF homovanillic acid concentration	55768	NGLY1	ORPHA:404454
HP:0002019	Constipation	6335	SCN9A	OMIM:133020
HP:0002019	Constipation	6335	SCN9A	ORPHA:46348
HP:0002019	Constipation	6535	SLC6A8	OMIM:300352
HP:0002019	Constipation	6535	SLC6A8	ORPHA:52503
HP:0002019	Constipation	9860	LRIG2	OMIM:615112
HP:0002019	Constipation	9860	LRIG2	ORPHA:2704
HP:0002019	Constipation	55823	VPS11	OMIM:616683
HP:0002019	Constipation	55823	VPS11	ORPHA:466934
HP:0002019	Constipation	2132	EXT2	OMIM:616682
HP:0002019	Constipation	2132	EXT2	ORPHA:466926
HP:0002019	Constipation	4010	LMX1B	ORPHA:2614
HP:0002019	Constipation	4010	LMX1B	ORPHA:495818
HP:0002019	Constipation	673	BRAF	OMIM:115150
HP:0002019	Constipation	775	CACNA1C	OMIM:620029
HP:0002019	Constipation	81857	MED25	OMIM:616449
HP:0002019	Constipation	81857	MED25	ORPHA:464738
HP:0002019	Constipation	324	APC	ORPHA:99818
HP:0002019	Constipation	55777	MBD5	ORPHA:228402
HP:0002019	Constipation	55777	MBD5	OMIM:156200
HP:0002019	Constipation	1131	CHRM3	ORPHA:2970
HP:0002019	Constipation	9839	ZEB2	OMIM:235730
HP:0002019	Constipation	9839	ZEB2	ORPHA:261552
HP:0002019	Constipation	9839	ZEB2	ORPHA:261537
HP:0002019	Constipation	64324	NSD1	ORPHA:821
HP:0002019	Constipation	29072	SETD2	ORPHA:821
HP:0002019	Constipation	10297	APC2	ORPHA:821
HP:0002019	Constipation	5447	POR	ORPHA:95699
HP:0002019	Constipation	3190	HNRNPK	ORPHA:453504
HP:0002019	Constipation	3190	HNRNPK	OMIM:616580
HP:0002019	Constipation	3190	HNRNPK	ORPHA:352665
HP:0002019	Constipation	3909	LAMA3	ORPHA:79404
HP:0002019	Constipation	3918	LAMC2	ORPHA:79404
HP:0002019	Constipation	3914	LAMB3	ORPHA:79404
HP:0002019	Constipation	4072	EPCAM	ORPHA:144
HP:0002019	Constipation	4292	MLH1	ORPHA:144
HP:0002019	Constipation	5395	PMS2	ORPHA:144
HP:0002019	Constipation	27030	MLH3	ORPHA:144
HP:0002019	Constipation	22909	FAN1	ORPHA:144
HP:0002019	Constipation	7048	TGFBR2	ORPHA:144
HP:0002019	Constipation	3845	KRAS	ORPHA:144
HP:0002019	Constipation	5290	PIK3CA	ORPHA:144
HP:0002019	Constipation	2956	MSH6	ORPHA:144
HP:0002019	Constipation	5378	PMS1	ORPHA:144
HP:0002019	Constipation	4436	MSH2	ORPHA:144
HP:0002019	Constipation	4784	NFIX	ORPHA:447980
HP:0002019	Constipation	215	ABCD1	ORPHA:388
HP:0002019	Constipation	5979	RET	ORPHA:388
HP:0002019	Constipation	5979	RET	OMIM:142623
HP:0002019	Constipation	5979	RET	OMIM:162300
HP:0002019	Constipation	2668	GDNF	ORPHA:388
HP:0002019	Constipation	1889	ECE1	ORPHA:388
HP:0002019	Constipation	6720	SREBF1	ORPHA:388
HP:0002019	Constipation	1908	EDN3	ORPHA:388
HP:0002019	Constipation	1908	EDN3	ORPHA:897
HP:0002019	Constipation	223117	SEMA3D	ORPHA:388
HP:0002019	Constipation	538	ATP7A	ORPHA:388
HP:0002019	Constipation	1910	EDNRB	ORPHA:388
HP:0002019	Constipation	1910	EDNRB	ORPHA:897
HP:0002019	Constipation	10512	SEMA3C	ORPHA:388
HP:0002019	Constipation	2065	ERBB3	ORPHA:388
HP:0002019	Constipation	4902	NRTN	ORPHA:388
HP:0002019	Constipation	7849	PAX8	OMIM:218700
HP:0002019	Constipation	7849	PAX8	ORPHA:95720
HP:0002019	Constipation	7849	PAX8	ORPHA:95713
HP:0002019	Constipation	7849	PAX8	ORPHA:95712
HP:0002019	Constipation	3074	HEXB	ORPHA:309162
HP:0002019	Constipation	6531	SLC6A3	ORPHA:238455
HP:0002019	Constipation	6531	SLC6A3	OMIM:613135
HP:0002019	Constipation	79577	CDC73	ORPHA:143
HP:0002019	Constipation	79577	CDC73	ORPHA:99880
HP:0002019	Constipation	80232	WDR26	ORPHA:513456
HP:0002019	Constipation	80232	WDR26	OMIM:617616
HP:0002019	Constipation	116931	MED12L	OMIM:618872
HP:0002019	Constipation	249	ALPL	OMIM:241500
HP:0002019	Constipation	65993	MRPS34	OMIM:617664
HP:0002019	Constipation	89910	UBE3B	OMIM:244450
HP:0002019	Constipation	64218	SEMA4A	ORPHA:440437
HP:0002019	Constipation	657	BMPR1A	ORPHA:440437
HP:0002019	Constipation	6224	RPS20	ORPHA:440437
HP:0002019	Constipation	6812	STXBP1	ORPHA:495818
HP:0002019	Constipation	672	BRCA1	ORPHA:168829
HP:0002019	Constipation	10730	YME1L1	OMIM:617302
HP:0002019	Constipation	55690	PACS1	OMIM:615009
HP:0002019	Constipation	55690	PACS1	ORPHA:329224
HP:0002019	Constipation	2314	FLII	ORPHA:819
HP:0002019	Constipation	23096	IQSEC2	ORPHA:819
HP:0002019	Constipation	10522	DEAF1	ORPHA:819
HP:0002019	Constipation	10522	DEAF1	ORPHA:468620
HP:0002019	Constipation	10847	SRCAP	ORPHA:2044
HP:0002019	Constipation	5498	PPOX	OMIM:176200
HP:0002019	Constipation	5498	PPOX	ORPHA:79473
HP:0002019	Constipation	3077	HFE	OMIM:176200
HP:0002019	Constipation	3508	IGHMBP2	OMIM:604320
HP:0002019	Constipation	10978	CLP1	OMIM:615803
HP:0002019	Constipation	7253	TSHR	ORPHA:90673
HP:0002019	Constipation	7253	TSHR	ORPHA:95720
HP:0002019	Constipation	7253	TSHR	ORPHA:95713
HP:0002019	Constipation	7252	TSHB	ORPHA:90674
HP:0002019	Constipation	55650	PIGV	OMIM:239300
HP:0002019	Constipation	8029	CUBN	ORPHA:35858
HP:0002019	Constipation	81693	AMN	ORPHA:35858
HP:0002019	Constipation	1896	EDA	OMIM:305100
HP:0002019	Constipation	2590	GALNT2	OMIM:618885
HP:0002019	Constipation	113189	CHST14	ORPHA:2953
HP:0002019	Constipation	113189	CHST14	OMIM:601776
HP:0002019	Constipation	29940	DSE	ORPHA:2953
HP:0002019	Constipation	5119	CHMP1A	OMIM:614961
HP:0002019	Constipation	9968	MED12	ORPHA:93932
HP:0002019	Constipation	9968	MED12	OMIM:305450
HP:0002019	Constipation	9968	MED12	OMIM:300895
HP:0002019	Constipation	8398	PLA2G6	ORPHA:35069
HP:0002019	Constipation	546	ATRX	ORPHA:847
HP:0002019	Constipation	546	ATRX	OMIM:309580
HP:0002019	Constipation	546	ATRX	OMIM:301040
HP:0002019	Constipation	5621	PRNP	OMIM:600072
HP:0002019	Constipation	7276	TTR	OMIM:105210
HP:0002019	Constipation	7276	TTR	ORPHA:85447
HP:0002019	Constipation	5095	PCCA	OMIM:606054
HP:0002019	Constipation	5095	PCCA	ORPHA:35
HP:0002019	Constipation	5096	PCCB	OMIM:606054
HP:0002019	Constipation	5096	PCCB	ORPHA:35
HP:0002019	Constipation	1717	DHCR7	OMIM:270400
HP:0002019	Constipation	5442	POLRMT	OMIM:619743
HP:0002019	Constipation	57178	ZMIZ1	OMIM:618659
HP:0002019	Constipation	11232	POLG2	OMIM:610131
HP:0002019	Constipation	11232	POLG2	ORPHA:254892
HP:0002019	Constipation	28514	DLL1	ORPHA:93926
HP:0002019	Constipation	28514	DLL1	ORPHA:93924
HP:0002019	Constipation	28514	DLL1	ORPHA:93925
HP:0002019	Constipation	28514	DLL1	ORPHA:220386
HP:0002019	Constipation	2253	FGF8	ORPHA:93926
HP:0002019	Constipation	2253	FGF8	ORPHA:93924
HP:0002019	Constipation	2253	FGF8	ORPHA:93925
HP:0002019	Constipation	2253	FGF8	ORPHA:220386
HP:0002019	Constipation	6496	SIX3	ORPHA:93926
HP:0002019	Constipation	6496	SIX3	ORPHA:93924
HP:0002019	Constipation	6496	SIX3	ORPHA:93925
HP:0002019	Constipation	6496	SIX3	ORPHA:220386
HP:0002019	Constipation	6496	SIX3	OMIM:157170
HP:0002019	Constipation	7050	TGIF1	ORPHA:93926
HP:0002019	Constipation	7050	TGIF1	ORPHA:93924
HP:0002019	Constipation	7050	TGIF1	ORPHA:93925
HP:0002019	Constipation	7050	TGIF1	ORPHA:220386
HP:0002019	Constipation	4838	NODAL	ORPHA:93926
HP:0002019	Constipation	4838	NODAL	ORPHA:93924
HP:0002019	Constipation	4838	NODAL	ORPHA:93925
HP:0002019	Constipation	4838	NODAL	ORPHA:220386
HP:0002019	Constipation	6469	SHH	ORPHA:93926
HP:0002019	Constipation	6469	SHH	ORPHA:93924
HP:0002019	Constipation	6469	SHH	ORPHA:93925
HP:0002019	Constipation	6469	SHH	ORPHA:220386
HP:0002019	Constipation	7546	ZIC2	ORPHA:93926
HP:0002019	Constipation	7546	ZIC2	ORPHA:93924
HP:0002019	Constipation	7546	ZIC2	ORPHA:93925
HP:0002019	Constipation	7546	ZIC2	ORPHA:220386
HP:0002019	Constipation	6491	STIL	ORPHA:93926
HP:0002019	Constipation	6491	STIL	ORPHA:93924
HP:0002019	Constipation	6491	STIL	ORPHA:93925
HP:0002019	Constipation	6491	STIL	ORPHA:220386
HP:0002019	Constipation	2619	GAS1	ORPHA:93926
HP:0002019	Constipation	2619	GAS1	ORPHA:93924
HP:0002019	Constipation	2619	GAS1	ORPHA:93925
HP:0002019	Constipation	2619	GAS1	ORPHA:220386
HP:0002019	Constipation	84976	DISP1	ORPHA:93926
HP:0002019	Constipation	84976	DISP1	ORPHA:93924
HP:0002019	Constipation	84976	DISP1	ORPHA:93925
HP:0002019	Constipation	84976	DISP1	ORPHA:220386
HP:0002019	Constipation	2736	GLI2	ORPHA:93926
HP:0002019	Constipation	2736	GLI2	ORPHA:93924
HP:0002019	Constipation	2736	GLI2	ORPHA:93925
HP:0002019	Constipation	2736	GLI2	ORPHA:95494
HP:0002019	Constipation	2736	GLI2	ORPHA:220386
HP:0002019	Constipation	8928	FOXH1	ORPHA:93926
HP:0002019	Constipation	8928	FOXH1	ORPHA:93924
HP:0002019	Constipation	8928	FOXH1	ORPHA:93925
HP:0002019	Constipation	8928	FOXH1	ORPHA:220386
HP:0002019	Constipation	5727	PTCH1	ORPHA:93926
HP:0002019	Constipation	5727	PTCH1	ORPHA:93924
HP:0002019	Constipation	5727	PTCH1	ORPHA:93925
HP:0002019	Constipation	5727	PTCH1	ORPHA:220386
HP:0002019	Constipation	50937	CDON	ORPHA:93926
HP:0002019	Constipation	50937	CDON	ORPHA:93924
HP:0002019	Constipation	50937	CDON	ORPHA:93925
HP:0002019	Constipation	50937	CDON	ORPHA:220386
HP:0002019	Constipation	60495	HPSE2	ORPHA:2704
HP:0002019	Constipation	60495	HPSE2	OMIM:236730
HP:0002019	Constipation	2260	FGFR1	ORPHA:93924
HP:0002019	Constipation	2260	FGFR1	ORPHA:220386
HP:0002019	Constipation	2260	FGFR1	ORPHA:3157
HP:0002019	Constipation	23007	PLCH1	ORPHA:93925
HP:0002019	Constipation	10735	STAG2	ORPHA:93925
HP:0002019	Constipation	10735	STAG2	ORPHA:220386
HP:0002019	Constipation	54832	VPS13C	ORPHA:2828
HP:0002019	Constipation	11315	PARK7	ORPHA:2828
HP:0002019	Constipation	7345	UCHL1	ORPHA:2828
HP:0002019	Constipation	27429	HTRA2	ORPHA:2828
HP:0002019	Constipation	9829	DNAJC6	ORPHA:2828
HP:0002019	Constipation	5420	PODXL	ORPHA:2828
HP:0002019	Constipation	65018	PINK1	ORPHA:2828
HP:0002019	Constipation	8867	SYNJ1	ORPHA:2828
HP:0002019	Constipation	5071	PRKN	ORPHA:2828
HP:0002019	Constipation	25942	SIN3A	OMIM:613406
HP:0002019	Constipation	27235	COQ2	ORPHA:98933
HP:0002019	Constipation	27235	COQ2	ORPHA:227510
HP:0002019	Constipation	6792	CDKL5	OMIM:300672
HP:0002019	Constipation	330	BIRC3	ORPHA:52417
HP:0002019	Constipation	10892	MALT1	ORPHA:52417
HP:0002019	Constipation	27086	FOXP1	ORPHA:52417
HP:0002019	Constipation	27086	FOXP1	ORPHA:391372
HP:0002019	Constipation	3492	IGH	ORPHA:52417
HP:0002019	Constipation	8915	BCL10	ORPHA:52417
HP:0002019	Constipation	8493	PPM1D	OMIM:617450
HP:0002019	Constipation	57680	CHD8	OMIM:615032
HP:0002019	Constipation	23259	DDHD2	OMIM:615033
HP:0002019	Constipation	5626	PROP1	ORPHA:226307
HP:0002019	Constipation	5626	PROP1	ORPHA:95494
HP:0002019	Constipation	5626	PROP1	ORPHA:90695
HP:0002019	Constipation	89884	LHX4	ORPHA:226307
HP:0002019	Constipation	89884	LHX4	ORPHA:95494
HP:0002019	Constipation	8022	LHX3	ORPHA:226307
HP:0002019	Constipation	5449	POU1F1	ORPHA:226307
HP:0002019	Constipation	5449	POU1F1	ORPHA:95494
HP:0002019	Constipation	8820	HESX1	ORPHA:226307
HP:0002019	Constipation	8820	HESX1	ORPHA:95494
HP:0002019	Constipation	8820	HESX1	ORPHA:3157
HP:0002019	Constipation	27125	AFF4	OMIM:616368
HP:0002019	Constipation	27125	AFF4	ORPHA:444077
HP:0002019	Constipation	6023	RMRP	OMIM:250250
HP:0002019	Constipation	6804	STX1A	ORPHA:904
HP:0002019	Constipation	7461	CLIP2	ORPHA:904
HP:0002019	Constipation	84277	DNAJC30	ORPHA:904
HP:0002019	Constipation	8468	FKBP6	ORPHA:904
HP:0002019	Constipation	5982	RFC2	ORPHA:904
HP:0002019	Constipation	2969	GTF2I	ORPHA:904
HP:0002019	Constipation	3984	LIMK1	ORPHA:904
HP:0002019	Constipation	9569	GTF2IRD1	ORPHA:904
HP:0002019	Constipation	155382	VPS37D	ORPHA:904
HP:0002019	Constipation	155368	METTL27	ORPHA:904
HP:0002019	Constipation	114049	BUD23	ORPHA:904
HP:0002019	Constipation	7458	EIF4H	ORPHA:904
HP:0002019	Constipation	84163	GTF2IRD2	ORPHA:904
HP:0002019	Constipation	9275	BCL7B	ORPHA:904
HP:0002019	Constipation	26608	TBL2	ORPHA:904
HP:0002019	Constipation	653361	NCF1	ORPHA:904
HP:0002019	Constipation	135886	TMEM270	ORPHA:904
HP:0002019	Constipation	9031	BAZ1B	ORPHA:904
HP:0002019	Constipation	285175	UNC80	OMIM:616801
HP:0002019	Constipation	285175	UNC80	ORPHA:371364
HP:0002019	Constipation	773	CACNA1A	ORPHA:2131
HP:0002019	Constipation	6507	SLC1A3	ORPHA:2131
HP:0002019	Constipation	477	ATP1A2	ORPHA:2131
HP:0002019	Constipation	478	ATP1A3	ORPHA:2131
HP:0002019	Constipation	4191	MDH2	OMIM:617339
HP:0002019	Constipation	5590	PRKCZ	ORPHA:1606
HP:0002019	Constipation	2563	GABRD	ORPHA:1606
HP:0002019	Constipation	23013	SPEN	ORPHA:1606
HP:0002019	Constipation	23013	SPEN	OMIM:619312
HP:0002019	Constipation	8510	MMP23B	ORPHA:1606
HP:0002019	Constipation	7798	LUZP1	ORPHA:1606
HP:0002019	Constipation	6497	SKI	ORPHA:1606
HP:0002019	Constipation	10630	PDPN	ORPHA:1606
HP:0002019	Constipation	3339	HSPG2	ORPHA:1606
HP:0002019	Constipation	10277	UBE4B	ORPHA:1606
HP:0002019	Constipation	8514	KCNAB2	ORPHA:1606
HP:0002019	Constipation	473	RERE	ORPHA:1606
HP:0002019	Constipation	63976	PRDM16	ORPHA:1606
HP:0002019	Constipation	54897	CASZ1	ORPHA:1606
HP:0002019	Constipation	493856	CISD2	ORPHA:3463
HP:0002019	Constipation	7466	WFS1	ORPHA:3463
HP:0002019	Constipation	6638	SNRPN	OMIM:105830
HP:0002019	Constipation	7337	UBE3A	OMIM:105830
HP:0002019	Constipation	7337	UBE3A	ORPHA:98794
HP:0002019	Constipation	100134444	KCNJ18	ORPHA:79102
HP:0002019	Constipation	2556	GABRA3	ORPHA:79102
HP:0002019	Constipation	779	CACNA1S	ORPHA:79102
HP:0002019	Constipation	4952	OCRL	OMIM:309000
HP:0002019	Constipation	4952	OCRL	ORPHA:534
HP:0002019	Constipation	4567	MT-TL1	ORPHA:225
HP:0002019	Constipation	4567	MT-TL1	ORPHA:550
HP:0002019	Constipation	4556	MT-TE	ORPHA:225
HP:0002019	Constipation	4566	MT-TK	ORPHA:225
HP:0002019	Constipation	6609	SMPD1	OMIM:257200
HP:0002019	Constipation	229	ALDOB	ORPHA:469
HP:0002019	Constipation	554	AVPR2	ORPHA:223
HP:0002019	Constipation	554	AVPR2	OMIM:304800
HP:0002019	Constipation	359	AQP2	ORPHA:223
HP:0002019	Constipation	359	AQP2	OMIM:125800
HP:0002019	Constipation	3170	FOXA2	ORPHA:95494
HP:0002019	Constipation	5015	OTX2	ORPHA:95494
HP:0002019	Constipation	5015	OTX2	ORPHA:3157
HP:0002019	Constipation	2316	FLNA	OMIM:300321
HP:0002019	Constipation	6942	TCF20	OMIM:618430
HP:0002019	Constipation	5428	POLG	OMIM:613662
HP:0002019	Constipation	5428	POLG	ORPHA:254892
HP:0002019	Constipation	5428	POLG	OMIM:603041
HP:0002019	Constipation	4665	NAB2	ORPHA:2126
HP:0002019	Constipation	6778	STAT6	ORPHA:2126
HP:0002019	Constipation	50506	DUOX2	ORPHA:226316
HP:0002019	Constipation	50506	DUOX2	ORPHA:95716
HP:0002019	Constipation	9409	PEX16	OMIM:614877
HP:0002019	Constipation	6925	TCF4	OMIM:610954
HP:0002019	Constipation	6925	TCF4	ORPHA:2896
HP:0002019	Constipation	51322	WAC	ORPHA:284169
HP:0002019	Constipation	51322	WAC	OMIM:616708
HP:0002019	Constipation	51322	WAC	ORPHA:466950
HP:0002019	Constipation	259232	NALCN	OMIM:616266
HP:0002019	Constipation	259232	NALCN	OMIM:615419
HP:0002019	Constipation	259232	NALCN	ORPHA:371364
HP:0002019	Constipation	2678	GGT1	OMIM:231950
HP:0002019	Constipation	6528	SLC5A5	OMIM:274400
HP:0002019	Constipation	6528	SLC5A5	ORPHA:95716
HP:0002019	Constipation	3756	KCNH1	OMIM:611816
HP:0002019	Constipation	3756	KCNH1	ORPHA:420561
HP:0002019	Constipation	84978	FRMD5	OMIM:620094
HP:0002019	Constipation	81839	VANGL1	OMIM:600145
HP:0002019	Constipation	56246	MRAP	ORPHA:361
HP:0002019	Constipation	6770	STAR	ORPHA:361
HP:0002019	Constipation	4158	MC2R	ORPHA:361
HP:0002019	Constipation	23530	NNT	ORPHA:361
HP:0002019	Constipation	10587	TXNRD2	ORPHA:361
HP:0002019	Constipation	6595	SMARCA2	OMIM:601358
HP:0002019	Constipation	55023	PHIP	ORPHA:589905
HP:0002019	Constipation	8621	CDK13	OMIM:617360
HP:0002019	Constipation	51142	CHCHD2	OMIM:616710
HP:0002019	Constipation	284119	CAVIN1	OMIM:613327
HP:0002019	Constipation	57165	GJC2	OMIM:613206
HP:0002019	Constipation	196528	ARID2	OMIM:617808
HP:0002019	Constipation	1188	CLCNKB	ORPHA:358
HP:0002019	Constipation	6559	SLC12A3	ORPHA:358
HP:0002019	Constipation	6559	SLC12A3	OMIM:263800
HP:0002019	Constipation	846	CASR	OMIM:239200
HP:0002019	Constipation	6658	SOX3	ORPHA:90695
HP:0002019	Constipation	6658	SOX3	ORPHA:3157
HP:0002019	Constipation	8518	ELP1	OMIM:223900
HP:0002019	Constipation	291	SLC25A4	ORPHA:254892
HP:0002019	Constipation	56652	TWNK	ORPHA:254892
HP:0002019	Constipation	50484	RRM2B	ORPHA:254892
HP:0002019	Constipation	4558	MT-TF	ORPHA:550
HP:0002019	Constipation	4572	MT-TQ	ORPHA:550
HP:0002019	Constipation	4512	MT-CO1	ORPHA:550
HP:0002019	Constipation	4513	MT-CO2	ORPHA:550
HP:0002019	Constipation	4514	MT-CO3	ORPHA:550
HP:0002019	Constipation	4578	MT-TW	ORPHA:550
HP:0002019	Constipation	4540	MT-ND5	ORPHA:550
HP:0002019	Constipation	4541	MT-ND6	ORPHA:550
HP:0002019	Constipation	4535	MT-ND1	ORPHA:550
HP:0002019	Constipation	4538	MT-ND4	ORPHA:550
HP:0002019	Constipation	4574	MT-TS1	ORPHA:550
HP:0002019	Constipation	4575	MT-TS2	ORPHA:550
HP:0002019	Constipation	4564	MT-TH	ORPHA:550
HP:0002019	Constipation	1859	DYRK1A	ORPHA:268261
HP:0002019	Constipation	2290	FOXG1	OMIM:613454
HP:0002019	Constipation	4803	NGF	OMIM:608654
HP:0002019	Constipation	9256	TSPOAP1	ORPHA:101150
HP:0002019	Constipation	7054	TH	ORPHA:101150
HP:0002019	Constipation	23028	KDM1A	OMIM:616728
HP:0002019	Constipation	2258	FGF13	OMIM:301058
HP:0002019	Constipation	1294	COL7A1	OMIM:226600
HP:0002019	Constipation	1294	COL7A1	ORPHA:89842
HP:0002019	Constipation	4312	MMP1	OMIM:226600
HP:0002019	Constipation	7200	TRH	OMIM:275120
HP:0002019	Constipation	1644	DDC	OMIM:608643
HP:0002019	Constipation	4286	MITF	ORPHA:897
HP:0002019	Constipation	6663	SOX10	ORPHA:897
HP:0002019	Constipation	6663	SOX10	ORPHA:163746
HP:0002019	Constipation	5172	SLC26A4	ORPHA:95720
HP:0002019	Constipation	5172	SLC26A4	ORPHA:95713
HP:0002019	Constipation	4297	KMT2A	OMIM:605130
HP:0002019	Constipation	4948	OCA2	ORPHA:98794
HP:0002019	Constipation	1725	DHPS	OMIM:618480
HP:0002019	Constipation	405753	DUOXA2	ORPHA:95716
HP:0002019	Constipation	7038	TG	ORPHA:95716
HP:0002019	Constipation	7173	TPO	ORPHA:95716
HP:0002019	Constipation	389434	IYD	ORPHA:95716
HP:0002019	Constipation	7080	NKX2-1	ORPHA:95713
HP:0002019	Constipation	1482	NKX2-5	ORPHA:95713
HP:0002019	Constipation	1482	NKX2-5	ORPHA:95712
HP:0002019	Constipation	2304	FOXE1	ORPHA:95713
HP:0002019	Constipation	11280	SCN11A	ORPHA:46348
HP:0002019	Constipation	11280	SCN11A	OMIM:615548
HP:0002019	Constipation	6336	SCN10A	ORPHA:46348
HP:0002019	Constipation	9378	NRXN1	OMIM:614325
HP:0002019	Constipation	1312	COMT	ORPHA:567
HP:0002019	Constipation	221037	JMJD1C	ORPHA:567
HP:0002019	Constipation	2812	GP1BB	ORPHA:567
HP:0002019	Constipation	6239	RREB1	ORPHA:567
HP:0002019	Constipation	6899	TBX1	ORPHA:567
HP:0002019	Constipation	7290	HIRA	ORPHA:567
HP:0002019	Constipation	9632	SEC24C	ORPHA:567
HP:0002019	Constipation	7353	UFD1	ORPHA:567
HP:0002019	Constipation	421	ARVCF	ORPHA:567
HP:0002019	Constipation	6557	SLC12A1	OMIM:601678
HP:0002019	Constipation	6907	TBL1X	OMIM:301033
HP:0002019	Constipation	1760	DMPK	ORPHA:589821
HP:0002019	Constipation	54681	P4HTM	OMIM:618493
HP:0002019	Constipation	3758	KCNJ1	OMIM:241200
HP:0002019	Constipation	1822	ATN1	OMIM:618494
HP:0002019	Constipation	7067	THRA	OMIM:614450
HP:0002019	Constipation	6304	SATB1	OMIM:619229
HP:0002019	Constipation	2313	FLI1	ORPHA:2308
HP:0002019	Constipation	5977	DPF2	OMIM:618027
HP:0002019	Constipation	94005	PIGS	OMIM:618143
HP:0002019	Constipation	6711	SPTBN1	OMIM:619475
HP:0002019	Constipation	1890	TYMP	OMIM:603041
HP:0002019	Constipation	1497	CTNS	ORPHA:411629
HP:0002019	Constipation	2887	GRB10	ORPHA:96182
HP:0002019	Constipation	1457	CSNK2A1	OMIM:617062
HP:0002019	Constipation	2222	FDFT1	OMIM:618156
HP:0002019	Constipation	6872	TAF1	OMIM:300966
HP:0002019	Constipation	1674	DES	OMIM:601419
HP:0002019	Constipation	57688	ZSWIM6	OMIM:617865
HP:0002019	Constipation	55164	SHQ1	OMIM:619922
HP:0002019	Constipation	3145	HMBS	OMIM:176000
HP:0002019	Constipation	3145	HMBS	ORPHA:79276
HP:0002019	Constipation	6299	SALL1	ORPHA:857
HP:0002019	Constipation	51339	DACT1	ORPHA:857
HP:0002019	Constipation	1759	DNM1	OMIM:620352
HP:0002019	Constipation	4221	MEN1	ORPHA:652
HP:0002019	Constipation	1027	CDKN1B	ORPHA:652
HP:0002019	Constipation	1026	CDKN1A	ORPHA:652
HP:0002019	Constipation	1030	CDKN2B	ORPHA:652
HP:0002019	Constipation	1031	CDKN2C	ORPHA:652
HP:0002019	Constipation	23387	SIK3	OMIM:618162
HP:0002019	Constipation	210	ALAD	ORPHA:100924
HP:0002019	Constipation	72	ACTG2	OMIM:155310
HP:0002019	Constipation	6389	SDHA	ORPHA:44890
HP:0002019	Constipation	6390	SDHB	ORPHA:44890
HP:0002019	Constipation	6390	SDHB	OMIM:606764
HP:0002019	Constipation	6391	SDHC	ORPHA:44890
HP:0002019	Constipation	6391	SDHC	OMIM:606764
HP:0002019	Constipation	5156	PDGFRA	ORPHA:44890
HP:0002019	Constipation	3815	KIT	ORPHA:44890
HP:0002019	Constipation	3815	KIT	OMIM:606764
HP:0002019	Constipation	8243	SMC1A	ORPHA:220386
HP:0002019	Constipation	738	VPS51	OMIM:618606
HP:0002019	Constipation	9757	KMT2B	OMIM:619934
HP:0002019	Constipation	6340	SCNN1G	ORPHA:526
HP:0002019	Constipation	6338	SCNN1B	ORPHA:526
HP:0002019	Constipation	6337	SCNN1A	ORPHA:526
HP:0002019	Constipation	10225	CD96	ORPHA:1308
HP:0002019	Constipation	1371	CPOX	OMIM:121300
HP:0002019	Constipation	11011	TLK2	OMIM:618050
HP:0002019	Constipation	2902	GRIN1	OMIM:614254
HP:0002019	Constipation	2747	GLUD2	OMIM:168600
HP:0002019	Constipation	126	ADH1C	OMIM:168600
HP:0002019	Constipation	4137	MAPT	OMIM:168600
HP:0002019	Constipation	4929	NR4A2	OMIM:168600
HP:0002019	Constipation	6908	TBP	OMIM:168600
HP:0002019	Constipation	4576	MT-TT	OMIM:168600
HP:0002019	Constipation	9627	SNCAIP	OMIM:168600
HP:0002019	Constipation	6311	ATXN2	OMIM:168600
HP:0002019	Constipation	6315	ATXN8OS	OMIM:168600
HP:0002019	Constipation	55294	FBXW7	OMIM:620012
HP:0002019	Constipation	128674	PROKR2	ORPHA:3157
HP:0002019	Constipation	6657	SOX2	ORPHA:3157
HP:0002019	Constipation	9915	ARNT2	ORPHA:3157
HP:0002019	Constipation	3476	IGBP1	OMIM:300472
HP:0002019	Constipation	6095	RORA	OMIM:618060
HP:0002019	Constipation	23111	SPART	OMIM:275900
HP:0002019	Constipation	25970	SH2B1	ORPHA:261222
HP:0002019	Constipation	23394	ADNP	ORPHA:404448
HP:0002019	Constipation	8367	H4C5	OMIM:619950
HP:0002019	Constipation	23417	MLYCD	OMIM:248360
HP:0002019	Constipation	7360	UGP2	OMIM:618744
HP:0002019	Constipation	3008	H1-4	OMIM:617537
HP:0002019	Constipation	26115	TANC2	OMIM:618906
HP:0002019	Constipation	23126	POGZ	ORPHA:468678
HP:0002019	Constipation	411	ARSB	OMIM:253200
HP:0002019	Constipation	55209	SETD5	ORPHA:404440
HP:0002019	Constipation	10743	RAI1	ORPHA:477817
HP:0002019	Constipation	4210	MEFV	OMIM:249100
HP:0002019	Constipation	3020	H3-3A	OMIM:619720
HP:0002019	Constipation	29998	BICRA	OMIM:619325
HP:0002019	Constipation	3021	H3-3B	OMIM:619721
HP:0002019	Constipation	113179	ADAT3	ORPHA:363528
HP:0002019	Constipation	51506	UFC1	OMIM:618076
HP:0002019	Constipation	51111	KMT5B	OMIM:617788
HP:0002019	Constipation	8239	USP9X	OMIM:300919
HP:0002019	Constipation	166378	AFG2A	OMIM:616577
HP:0002019	Constipation	4953	ODC1	ORPHA:544488
HP:0002019	Constipation	3097	HIVEP2	OMIM:616977
HP:0002019	Constipation	28960	DCPS	OMIM:616459
HP:0002019	Constipation	55768	NGLY1	ORPHA:404454
HP:0002019	Constipation	6904	TBCD	ORPHA:496641
HP:0002019	Constipation	4001	LMNB1	OMIM:619179
HP:0002019	Constipation	57551	TAOK1	OMIM:619575
HP:0002019	Constipation	55870	ASH1L	OMIM:617796
HP:0002019	Constipation	3899	AFF3	OMIM:619297
HP:0002019	Constipation	9739	SETD1A	OMIM:619056
HP:0002019	Constipation	7468	NSD2	OMIM:619695
HP:0002019	Constipation	816	CAMK2B	OMIM:617799
HP:0002019	Constipation	54551	MAGEL2	ORPHA:398069
HP:0002019	Constipation	7132	TNFRSF1A	OMIM:142680
HP:0002019	Constipation	84188	FAR1	OMIM:619338
HP:0002019	Constipation	2629	GBA1	ORPHA:411602
HP:0002019	Constipation	23317	DNAJC13	ORPHA:411602
HP:0002019	Constipation	1981	EIF4G1	ORPHA:411602
HP:0002019	Constipation	55737	VPS35	ORPHA:411602
HP:0002019	Constipation	120892	LRRK2	ORPHA:411602
HP:0002019	Constipation	26058	GIGYF2	ORPHA:411602
HP:0002019	Constipation	6622	SNCA	ORPHA:411602
HP:0002019	Constipation	9969	MED13	OMIM:618009
HP:0002019	Constipation	1277	COL1A1	ORPHA:287
HP:0002019	Constipation	1289	COL5A1	ORPHA:287
HP:0002019	Constipation	1290	COL5A2	ORPHA:287
HP:0002019	Constipation	7703	PCGF2	OMIM:618371
HP:0002019	Constipation	10943	MSL3	OMIM:301032
HP:0002019	Constipation	84823	LMNB2	OMIM:619180
HP:0002019	Constipation	2064	ERBB2	OMIM:619465
HP:0002019	Constipation	23036	ZNF292	OMIM:619188
HP:0002019	Constipation	3188	HNRNPH2	OMIM:300986
HP:0002019	Constipation	2257	FGF12	OMIM:617166
HP:0002019	Constipation	25	ABL1	OMIM:617602
HP:0002019	Constipation	2783	GNB2	OMIM:619503
HP:0002019	Constipation	55186	SLC25A36	OMIM:620211
HP:0002019	Constipation	9653	HS2ST1	OMIM:619194
HP:0002019	Constipation	4629	MYH11	OMIM:619350
HP:0002019	Constipation	1267	CNP	OMIM:619071
HP:0002019	Constipation	5518	PPP2R1A	OMIM:616362
HP:0002019	Constipation	7874	USP7	ORPHA:500055
HP:0002019	Constipation	65109	UPF3B	OMIM:300676
HP:0002019	Constipation	6608	SMO	OMIM:601707
HP:0002019	Constipation	10526	IPO8	OMIM:619472
HP:0002019	Constipation	5457	POU4F1	OMIM:619352
HP:0002019	Constipation	51633	OTUD6B	OMIM:617452
HP:0002019	Constipation	51633	OTUD6B	ORPHA:505237
HP:0002019	Constipation	8929	PHOX2B	OMIM:209880
HP:0002019	Constipation	7204	TRIO	OMIM:618825
HP:0002019	Constipation	7204	TRIO	OMIM:617061
HP:0002019	Constipation	7204	TRIO	ORPHA:476126
HP:0002019	Constipation	5593	PRKG2	OMIM:619636
HP:0002019	Constipation	1650	DDOST	OMIM:614507
HP:0002019	Constipation	54499	TMCO1	OMIM:213980
HP:0002019	Constipation	8936	WASF1	OMIM:618707
HP:0002019	Constipation	8405	SPOP	OMIM:618829
HP:0002019	Constipation	11198	SUPT16H	OMIM:619480
HP:0002019	Constipation	283446	MYO1H	OMIM:619482
HP:0002019	Constipation	57459	GATAD2B	ORPHA:363686
HP:0002019	Constipation	6558	SLC12A2	OMIM:619080
HP:0002019	Constipation	8567	MADD	OMIM:619004
HP:0002019	Constipation	8567	MADD	OMIM:619005
HP:0002019	Constipation	10660	LBX1	OMIM:619483
HP:0002019	Constipation	10991	SLC38A3	OMIM:619881
HP:0002019	Constipation	23261	CAMTA1	OMIM:614756
HP:0002019	Constipation	5500	PPP1CB	OMIM:617506
HP:0002019	Constipation	7841	MOGS	ORPHA:79330
HP:0002019	Constipation	9338	TCEAL1	OMIM:301094
HP:0002019	Constipation	51085	MLXIPL	OMIM:194050
HP:0002019	Constipation	2006	ELN	OMIM:194050
HP:0002019	Constipation	7030	TFE3	OMIM:301066
HP:0002019	Constipation	1984	EIF5A	OMIM:619376
HP:0002019	Constipation	64321	SOX17	OMIM:613674
HP:0002019	Constipation	2890	GRIA1	OMIM:619931
HP:0002019	Constipation	23219	FBXO28	OMIM:619777
HP:0002019	Constipation	3110	MNX1	OMIM:176450
HP:0002019	Constipation	4204	MECP2	OMIM:300260
HP:0002019	Constipation	129285	PPP1R21	OMIM:619383
HP:0002019	Constipation	2000	ELF4	OMIM:301074
HP:0002019	Constipation	1387	CREBBP	OMIM:618332
HP:0002019	Constipation	2033	EP300	OMIM:618333
HP:0002019	Constipation	92935	MARS2	OMIM:616430
HP:0002019	Constipation	7319	UBE2A	ORPHA:163956
HP:0002019	Constipation	5062	PAK2	OMIM:618458
HP:0002019	Constipation	81603	TRIM8	OMIM:619428
HP:0002019	Constipation	5696	PSMB8	OMIM:256040
HP:0002019	Constipation	4976	OPA1	OMIM:210000
HP:0003787	Type 1 and type 2 muscle fiber minicore regions	6261	RYR1	OMIM:255320
HP:0003787	Type 1 and type 2 muscle fiber minicore regions	57190	SELENON	OMIM:602771
HP:0009055	Generalized limb muscle atrophy	80324	PUS1	OMIM:600462
HP:0009055	Generalized limb muscle atrophy	80324	PUS1	ORPHA:2598
HP:0009055	Generalized limb muscle atrophy	10908	PNPLA6	ORPHA:139480
HP:0009055	Generalized limb muscle atrophy	833	CARS1	OMIM:618891
HP:0009055	Generalized limb muscle atrophy	29925	GMPPB	OMIM:615351
HP:0009055	Generalized limb muscle atrophy	80208	SPG11	ORPHA:2822
HP:0009055	Generalized limb muscle atrophy	57104	PNPLA2	ORPHA:98908
HP:0009055	Generalized limb muscle atrophy	55157	DARS2	ORPHA:137898
HP:0009055	Generalized limb muscle atrophy	84665	MYPN	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	58	ACTA1	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	7169	TPM2	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	390594	KBTBD13	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	4703	NEB	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	10324	KLHL41	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	7170	TPM3	ORPHA:171439
HP:0009055	Generalized limb muscle atrophy	9997	SCO2	ORPHA:521411
HP:0009055	Generalized limb muscle atrophy	6444	SGCD	ORPHA:219
HP:0009055	Generalized limb muscle atrophy	4625	MYH7	OMIM:608358
HP:0009055	Generalized limb muscle atrophy	57410	SCYL1	ORPHA:466794
HP:0009055	Generalized limb muscle atrophy	23592	LEMD3	ORPHA:1306
HP:0009055	Generalized limb muscle atrophy	51067	YARS2	ORPHA:2598
HP:0003789	Minicore myopathy	6261	RYR1	OMIM:255320
HP:0003789	Minicore myopathy	6261	RYR1	ORPHA:424107
HP:0003789	Minicore myopathy	6261	RYR1	OMIM:619542
HP:0003789	Minicore myopathy	57190	SELENON	OMIM:602771
HP:0003789	Minicore myopathy	8087	FXR1	OMIM:618823
HP:0003789	Minicore myopathy	1073	CFL2	OMIM:610687
HP:0003789	Minicore myopathy	9325	TRIP4	ORPHA:486815
HP:0003789	Minicore myopathy	7273	TTN	OMIM:611705
HP:0003789	Minicore myopathy	4625	MYH7	ORPHA:59135
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	ORPHA:97240
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	OMIM:161800
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	ORPHA:171433
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	ORPHA:171430
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	58	ACTA1	OMIM:616852
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	6261	RYR1	ORPHA:597
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	6261	RYR1	OMIM:255320
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	6261	RYR1	ORPHA:98905
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	6261	RYR1	OMIM:117000
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	OMIM:619334
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	OMIM:256030
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	ORPHA:171433
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	ORPHA:171430
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4703	NEB	ORPHA:399103
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4709	NDUFB3	OMIM:618246
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	339855	KY	OMIM:617114
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	56203	LMOD3	OMIM:616165
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	56203	LMOD3	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	56203	LMOD3	ORPHA:171430
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	10324	KLHL41	OMIM:615731
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	10324	KLHL41	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	10324	KLHL41	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	10324	KLHL41	ORPHA:171433
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	10324	KLHL41	ORPHA:171430
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7170	TPM3	OMIM:609284
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7170	TPM3	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7170	TPM3	ORPHA:171433
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7169	TPM2	OMIM:609285
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7169	TPM2	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7169	TPM2	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	84665	MYPN	OMIM:617336
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	84665	MYPN	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	79912	PYROXD1	OMIM:617258
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	84700	MYO18B	OMIM:616549
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	390594	KBTBD13	ORPHA:171439
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	390594	KBTBD13	OMIM:609273
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1073	CFL2	OMIM:610687
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1073	CFL2	ORPHA:171436
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4747	NEFL	OMIM:607684
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	131377	KLHL40	ORPHA:171430
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	131377	KLHL40	OMIM:615348
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	7138	TNNT1	OMIM:605355
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2273	FHL1	OMIM:300718
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2273	FHL1	OMIM:300717
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1798	DPAGT1	OMIM:614750
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1798	DPAGT1	ORPHA:353327
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	85365	ALG2	OMIM:616228
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	85365	ALG2	ORPHA:353327
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	844	CASQ1	ORPHA:2593
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	84876	ORAI1	ORPHA:2593
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	6786	STIM1	ORPHA:2593
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	29925	GMPPB	ORPHA:353327
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2673	GFPT1	ORPHA:353327
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	199857	ALG14	ORPHA:353327
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	23676	SMPX	OMIM:301075
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2318	FLNC	OMIM:609524
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	9499	MYOT	OMIM:609200
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4625	MYH7	OMIM:255160
HP:0003791	Deposits immunoreactive to beta-amyloid protein	8291	DYSF	OMIM:254130
HP:0003791	Deposits immunoreactive to beta-amyloid protein	10020	GNE	OMIM:605820
HP:0003791	Deposits immunoreactive to beta-amyloid protein	5663	PSEN1	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	5664	PSEN2	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	10452	TOMM40	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	351	APP	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	54209	TREM2	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	10347	ABCA7	ORPHA:1020
HP:0003791	Deposits immunoreactive to beta-amyloid protein	6653	SORL1	ORPHA:1020
HP:0000270	Delayed cranial suture closure	7291	TWIST1	ORPHA:794
HP:0000270	Delayed cranial suture closure	7291	TWIST1	OMIM:101400
HP:0000270	Delayed cranial suture closure	2263	FGFR2	ORPHA:794
HP:0000270	Delayed cranial suture closure	2263	FGFR2	OMIM:101400
HP:0000270	Delayed cranial suture closure	2263	FGFR2	OMIM:101200
HP:0000270	Delayed cranial suture closure	2261	FGFR3	ORPHA:794
HP:0000270	Delayed cranial suture closure	3981	LIG4	ORPHA:235
HP:0000270	Delayed cranial suture closure	54888	NSUN2	ORPHA:235
HP:0000270	Delayed cranial suture closure	9791	PTDSS1	OMIM:151050
HP:0000270	Delayed cranial suture closure	9791	PTDSS1	ORPHA:2658
HP:0000270	Delayed cranial suture closure	538	ATP7A	ORPHA:198
HP:0000270	Delayed cranial suture closure	10269	ZMPSTE24	OMIM:608612
HP:0000270	Delayed cranial suture closure	5626	PROP1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	89884	LHX4	ORPHA:226307
HP:0000270	Delayed cranial suture closure	8022	LHX3	ORPHA:226307
HP:0000270	Delayed cranial suture closure	5449	POU1F1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	5449	POU1F1	OMIM:613038
HP:0000270	Delayed cranial suture closure	8820	HESX1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	1387	CREBBP	OMIM:180849
HP:0000270	Delayed cranial suture closure	2033	EP300	OMIM:180849
HP:0000270	Delayed cranial suture closure	2737	GLI3	OMIM:175700
HP:0000270	Delayed cranial suture closure	5832	ALDH18A1	OMIM:616603
HP:0000270	Delayed cranial suture closure	5832	ALDH18A1	ORPHA:90348
HP:0000270	Delayed cranial suture closure	5590	PRKCZ	ORPHA:1606
HP:0000270	Delayed cranial suture closure	2563	GABRD	ORPHA:1606
HP:0000270	Delayed cranial suture closure	23013	SPEN	ORPHA:1606
HP:0000270	Delayed cranial suture closure	8510	MMP23B	ORPHA:1606
HP:0000270	Delayed cranial suture closure	7798	LUZP1	ORPHA:1606
HP:0000270	Delayed cranial suture closure	6497	SKI	ORPHA:1606
HP:0000270	Delayed cranial suture closure	10630	PDPN	ORPHA:1606
HP:0000270	Delayed cranial suture closure	3339	HSPG2	ORPHA:1606
HP:0000270	Delayed cranial suture closure	10277	UBE4B	ORPHA:1606
HP:0000270	Delayed cranial suture closure	8514	KCNAB2	ORPHA:1606
HP:0000270	Delayed cranial suture closure	473	RERE	ORPHA:1606
HP:0000270	Delayed cranial suture closure	63976	PRDM16	ORPHA:1606
HP:0000270	Delayed cranial suture closure	54897	CASZ1	ORPHA:1606
HP:0000270	Delayed cranial suture closure	79796	ALG9	ORPHA:79328
HP:0000270	Delayed cranial suture closure	113189	CHST14	OMIM:601776
HP:0000270	Delayed cranial suture closure	267010	RNU12	OMIM:603116
HP:0000270	Delayed cranial suture closure	4094	MAF	ORPHA:1272
HP:0000270	Delayed cranial suture closure	4094	MAF	OMIM:601088
HP:0000270	Delayed cranial suture closure	285590	SH3PXD2B	OMIM:249420
HP:0000270	Delayed cranial suture closure	5159	PDGFRB	OMIM:601812
HP:0000270	Delayed cranial suture closure	10651	MTX2	OMIM:619127
HP:0000270	Delayed cranial suture closure	29998	BICRA	OMIM:619325
HP:0000270	Delayed cranial suture closure	4920	ROR2	OMIM:113000
HP:0000270	Delayed cranial suture closure	4920	ROR2	OMIM:268310
HP:0000270	Delayed cranial suture closure	4000	LMNA	OMIM:248370
HP:0000270	Delayed cranial suture closure	56975	FAM20C	ORPHA:1832
HP:0000270	Delayed cranial suture closure	7252	TSHB	ORPHA:90674
HP:0000270	Delayed cranial suture closure	54941	RNF125	OMIM:616260
HP:0000270	Delayed cranial suture closure	8260	NAA10	OMIM:300855
HP:0000270	Delayed cranial suture closure	8260	NAA10	ORPHA:276432
HP:0000270	Delayed cranial suture closure	405753	DUOXA2	ORPHA:95716
HP:0000270	Delayed cranial suture closure	6528	SLC5A5	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7038	TG	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7173	TPO	ORPHA:95716
HP:0000270	Delayed cranial suture closure	389434	IYD	ORPHA:95716
HP:0000270	Delayed cranial suture closure	50506	DUOX2	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7874	USP7	OMIM:616863
HP:0000270	Delayed cranial suture closure	10491	CRTAP	OMIM:610682
HP:0000270	Delayed cranial suture closure	2006	ELN	ORPHA:90348
HP:0000270	Delayed cranial suture closure	10516	FBLN5	ORPHA:90348
HP:0000270	Delayed cranial suture closure	10516	FBLN5	ORPHA:90349
HP:0000270	Delayed cranial suture closure	4052	LTBP1	ORPHA:90349
HP:0000270	Delayed cranial suture closure	30008	EFEMP2	ORPHA:90349
HP:0000270	Delayed cranial suture closure	5557	PRIM1	OMIM:620005
HP:0000270	Delayed cranial suture closure	3295	HSD17B4	OMIM:261515
HP:0000270	Delayed cranial suture closure	71	ACTG1	ORPHA:2995
HP:0000270	Delayed cranial suture closure	60	ACTB	ORPHA:2995
HP:0000270	Delayed cranial suture closure	6223	RPS19	OMIM:105650
HP:0000270	Delayed cranial suture closure	1513	CTSK	ORPHA:763
HP:0000270	Delayed cranial suture closure	129285	PPP1R21	OMIM:619383
HP:0000270	Delayed cranial suture closure	1656	DDX6	OMIM:618653
HP:0000270	Delayed cranial suture closure	139285	AMER1	OMIM:300373
HP:0000270	Delayed cranial suture closure	6197	RPS6KA3	OMIM:303600
HP:0000270	Delayed cranial suture closure	443	ASPA	OMIM:271900
HP:0000270	Delayed cranial suture closure	6905	TBCE	OMIM:244460
HP:0000270	Delayed cranial suture closure	9759	HDAC4	OMIM:619797
HP:0000270	Delayed cranial suture closure	23545	ATP6V0A2	ORPHA:357074
HP:0000270	Delayed cranial suture closure	23545	ATP6V0A2	ORPHA:2834
HP:0000270	Delayed cranial suture closure	23545	ATP6V0A2	OMIM:278250
HP:0000270	Delayed cranial suture closure	523	ATP6V1A	ORPHA:357074
HP:0000270	Delayed cranial suture closure	529	ATP6V1E1	ORPHA:357074
HP:0000270	Delayed cranial suture closure	54892	NCAPG2	OMIM:618460
HP:0000270	Delayed cranial suture closure	84168	ANTXR1	OMIM:230740
HP:0000270	Delayed cranial suture closure	8815	BANF1	OMIM:614008
HP:0000270	Delayed cranial suture closure	5824	PEX19	OMIM:614886
HP:0000270	Delayed cranial suture closure	5195	PEX14	OMIM:614887
HP:0000270	Delayed cranial suture closure	63901	FAM111A	OMIM:127000
HP:0000270	Delayed cranial suture closure	11128	POLR3A	OMIM:264090
HP:0000270	Delayed cranial suture closure	4313	MMP2	OMIM:259600
HP:0000270	Delayed cranial suture closure	2887	GRB10	ORPHA:96182
HP:0000270	Delayed cranial suture closure	3481	IGF2	ORPHA:231140
HP:0000270	Delayed cranial suture closure	283120	H19	ORPHA:231140
HP:0000270	Delayed cranial suture closure	10484	SEC23A	OMIM:607812
HP:0000270	Delayed cranial suture closure	1277	COL1A1	OMIM:130060
HP:0000270	Delayed cranial suture closure	9509	ADAMTS2	OMIM:225410
HP:0000270	Delayed cranial suture closure	7545	ZIC1	OMIM:618736
HP:0000270	Delayed cranial suture closure	114548	NLRP3	ORPHA:1451
HP:0000270	Delayed cranial suture closure	2316	FLNA	OMIM:311300
HP:0000270	Delayed cranial suture closure	2316	FLNA	OMIM:304120
HP:0000270	Delayed cranial suture closure	9968	MED12	OMIM:305450
HP:0000270	Delayed cranial suture closure	9126	SMC3	OMIM:610759
HP:0000270	Delayed cranial suture closure	5828	PEX2	OMIM:614866
HP:0000270	Delayed cranial suture closure	29123	ANKRD11	ORPHA:2332
HP:0000270	Delayed cranial suture closure	860	RUNX2	OMIM:119600
HP:0000270	Delayed cranial suture closure	2688	GH1	OMIM:262400
HP:0000270	Delayed cranial suture closure	29940	DSE	OMIM:615539
HP:0003795	Short middle phalanx of toe	59341	TRPV4	OMIM:606835
HP:0003795	Short middle phalanx of toe	2260	FGFR1	OMIM:101600
HP:0003795	Short middle phalanx of toe	2263	FGFR2	OMIM:101600
HP:0003795	Short middle phalanx of toe	2261	FGFR3	OMIM:602849
HP:0003795	Short middle phalanx of toe	3239	HOXD13	OMIM:186000
HP:0003796	Irregular iliac crest	1280	COL2A1	ORPHA:93316
HP:0003796	Irregular iliac crest	3417	IDH1	ORPHA:99646
HP:0003796	Irregular iliac crest	2879	GPX4	ORPHA:93317
HP:0003796	Irregular iliac crest	2879	GPX4	OMIM:250220
HP:0003796	Irregular iliac crest	54808	DYM	OMIM:223800
HP:0003796	Irregular iliac crest	54808	DYM	OMIM:607326
HP:0003796	Irregular iliac crest	54808	DYM	ORPHA:239
HP:0003796	Irregular iliac crest	51025	PAM16	OMIM:613320
HP:0003796	Irregular iliac crest	4010	LMX1B	ORPHA:2614
HP:0003796	Irregular iliac crest	4010	LMX1B	OMIM:161200
HP:0003797	Limb-girdle muscle atrophy	2483	FRG1	OMIM:158900
HP:0003797	Limb-girdle muscle atrophy	4625	MYH7	ORPHA:437572
HP:0003797	Limb-girdle muscle atrophy	4625	MYH7	OMIM:608358
HP:0003797	Limb-girdle muscle atrophy	146862	UNC45B	OMIM:619178
HP:0003797	Limb-girdle muscle atrophy	7170	TPM3	OMIM:609284
HP:0003797	Limb-girdle muscle atrophy	59341	TRPV4	OMIM:606071
HP:0003797	Limb-girdle muscle atrophy	22954	TRIM32	OMIM:254110
HP:0003797	Limb-girdle muscle atrophy	60	ACTB	ORPHA:64755
HP:0003797	Limb-girdle muscle atrophy	6443	SGCB	OMIM:604286
HP:0003797	Limb-girdle muscle atrophy	1674	DES	OMIM:181400
HP:0003797	Limb-girdle muscle atrophy	10020	GNE	ORPHA:602
HP:0003797	Limb-girdle muscle atrophy	1716	DGUOK	ORPHA:329314
HP:0003797	Limb-girdle muscle atrophy	22880	MORC2	ORPHA:466768
HP:0003797	Limb-girdle muscle atrophy	79147	FKRP	ORPHA:370980
HP:0003797	Limb-girdle muscle atrophy	2218	FKTN	ORPHA:370980
HP:0003797	Limb-girdle muscle atrophy	729920	CRPPA	ORPHA:370980
HP:0003797	Limb-girdle muscle atrophy	10585	POMT1	ORPHA:370980
HP:0003797	Limb-girdle muscle atrophy	6442	SGCA	OMIM:608099
HP:0003797	Limb-girdle muscle atrophy	4000	LMNA	OMIM:181350
HP:0003797	Limb-girdle muscle atrophy	4000	LMNA	ORPHA:98855
HP:0003797	Limb-girdle muscle atrophy	4000	LMNA	ORPHA:98853
HP:0003797	Limb-girdle muscle atrophy	58	ACTA1	ORPHA:97240
HP:0003797	Limb-girdle muscle atrophy	1605	DAG1	ORPHA:280333
HP:0003797	Limb-girdle muscle atrophy	60684	TRAPPC11	ORPHA:369840
HP:0003797	Limb-girdle muscle atrophy	60684	TRAPPC11	ORPHA:369847
HP:0003797	Limb-girdle muscle atrophy	60684	TRAPPC11	OMIM:615356
HP:0003797	Limb-girdle muscle atrophy	56983	POGLUT1	OMIM:617232
HP:0003797	Limb-girdle muscle atrophy	3178	HNRNPA1	OMIM:615424
HP:0003797	Limb-girdle muscle atrophy	9987	HNRNPDL	OMIM:609115
HP:0003797	Limb-girdle muscle atrophy	54344	DPM3	OMIM:612937
HP:0003797	Limb-girdle muscle atrophy	2273	FHL1	ORPHA:98863
HP:0003797	Limb-girdle muscle atrophy	2010	EMD	ORPHA:98863
HP:0003797	Limb-girdle muscle atrophy	79188	TMEM43	ORPHA:98853
HP:0003797	Limb-girdle muscle atrophy	23345	SYNE1	ORPHA:98853
HP:0003797	Limb-girdle muscle atrophy	23224	SYNE2	ORPHA:98853
HP:0003797	Limb-girdle muscle atrophy	203859	ANO5	ORPHA:206549
HP:0003797	Limb-girdle muscle atrophy	29954	POMT2	ORPHA:206559
HP:0003797	Limb-girdle muscle atrophy	825	CAPN3	ORPHA:267
HP:0003797	Limb-girdle muscle atrophy	7415	VCP	OMIM:167320
HP:0003797	Limb-girdle muscle atrophy	6606	SMN1	OMIM:253400
HP:0003797	Limb-girdle muscle atrophy	6607	SMN2	OMIM:253400
HP:0003797	Limb-girdle muscle atrophy	2992	GYG1	OMIM:616199
HP:0003798	Nemaline bodies	58	ACTA1	ORPHA:97240
HP:0003798	Nemaline bodies	58	ACTA1	ORPHA:171439
HP:0003798	Nemaline bodies	58	ACTA1	OMIM:161800
HP:0003798	Nemaline bodies	58	ACTA1	ORPHA:171436
HP:0003798	Nemaline bodies	58	ACTA1	ORPHA:171433
HP:0003798	Nemaline bodies	58	ACTA1	ORPHA:171430
HP:0003798	Nemaline bodies	58	ACTA1	OMIM:616852
HP:0003798	Nemaline bodies	6261	RYR1	ORPHA:597
HP:0003798	Nemaline bodies	6261	RYR1	OMIM:255320
HP:0003798	Nemaline bodies	6261	RYR1	ORPHA:98905
HP:0003798	Nemaline bodies	6261	RYR1	OMIM:117000
HP:0003798	Nemaline bodies	4703	NEB	OMIM:619334
HP:0003798	Nemaline bodies	4703	NEB	ORPHA:171439
HP:0003798	Nemaline bodies	4703	NEB	OMIM:256030
HP:0003798	Nemaline bodies	4703	NEB	ORPHA:171436
HP:0003798	Nemaline bodies	4703	NEB	ORPHA:171433
HP:0003798	Nemaline bodies	4703	NEB	ORPHA:171430
HP:0003798	Nemaline bodies	4703	NEB	ORPHA:399103
HP:0003798	Nemaline bodies	4709	NDUFB3	OMIM:618246
HP:0003798	Nemaline bodies	339855	KY	OMIM:617114
HP:0003798	Nemaline bodies	56203	LMOD3	OMIM:616165
HP:0003798	Nemaline bodies	56203	LMOD3	ORPHA:171436
HP:0003798	Nemaline bodies	56203	LMOD3	ORPHA:171430
HP:0003798	Nemaline bodies	10324	KLHL41	OMIM:615731
HP:0003798	Nemaline bodies	10324	KLHL41	ORPHA:171439
HP:0003798	Nemaline bodies	10324	KLHL41	ORPHA:171436
HP:0003798	Nemaline bodies	10324	KLHL41	ORPHA:171433
HP:0003798	Nemaline bodies	10324	KLHL41	ORPHA:171430
HP:0003798	Nemaline bodies	7170	TPM3	OMIM:609284
HP:0003798	Nemaline bodies	7170	TPM3	ORPHA:171439
HP:0003798	Nemaline bodies	7170	TPM3	ORPHA:171433
HP:0003798	Nemaline bodies	7169	TPM2	OMIM:609285
HP:0003798	Nemaline bodies	7169	TPM2	ORPHA:171439
HP:0003798	Nemaline bodies	7169	TPM2	ORPHA:171436
HP:0003798	Nemaline bodies	84665	MYPN	OMIM:617336
HP:0003798	Nemaline bodies	84665	MYPN	ORPHA:171439
HP:0003798	Nemaline bodies	79912	PYROXD1	OMIM:617258
HP:0003798	Nemaline bodies	84700	MYO18B	OMIM:616549
HP:0003798	Nemaline bodies	390594	KBTBD13	ORPHA:171439
HP:0003798	Nemaline bodies	390594	KBTBD13	OMIM:609273
HP:0003798	Nemaline bodies	1073	CFL2	OMIM:610687
HP:0003798	Nemaline bodies	1073	CFL2	ORPHA:171436
HP:0003798	Nemaline bodies	4747	NEFL	OMIM:607684
HP:0003798	Nemaline bodies	131377	KLHL40	ORPHA:171430
HP:0003798	Nemaline bodies	131377	KLHL40	OMIM:615348
HP:0003798	Nemaline bodies	7138	TNNT1	OMIM:605355
HP:0003799	Marked delay in bone age	2099	ESR1	ORPHA:785
HP:0003799	Marked delay in bone age	89884	LHX4	OMIM:262700
HP:0006200	Widened distal phalanges	1301	COL11A1	OMIM:154780
HP:0006200	Widened distal phalanges	1387	CREBBP	ORPHA:353277
HP:0006200	Widened distal phalanges	2033	EP300	ORPHA:353284
HP:0006200	Widened distal phalanges	2317	FLNB	OMIM:108721
HP:0006201	Hypermobility of distal interphalangeal joints	1281	COL3A1	OMIM:130050
HP:0006201	Hypermobility of distal interphalangeal joints	1278	COL1A2	ORPHA:230851
HP:0006201	Hypermobility of distal interphalangeal joints	9427	ECEL1	OMIM:615065
HP:0006203	Decreased movement range in interphalangeal joints	79158	GNPTAB	ORPHA:576
HP:0006203	Decreased movement range in interphalangeal joints	9987	HNRNPDL	OMIM:609115
HP:0006203	Decreased movement range in interphalangeal joints	3848	KRT1	ORPHA:530838
HP:0006206	Hypersegmentation of proximal phalanx of second finger	8200	GDF5	OMIM:113100
HP:0006207	Partial fusion of carpals	2316	FLNA	OMIM:305620
HP:0006208	Metaphyseal cupping of proximal phalanges	1300	COL10A1	ORPHA:174
HP:0006208	Metaphyseal cupping of proximal phalanges	1300	COL10A1	OMIM:156500
HP:0006208	Metaphyseal cupping of proximal phalanges	10013	HDAC6	OMIM:300863
HP:0009280	Short 4th finger	1280	COL2A1	OMIM:271700
HP:0009280	Short 4th finger	9241	NOG	OMIM:186500
HP:0009280	Short 4th finger	8200	GDF5	OMIM:615072
HP:0009280	Short 4th finger	2122	MECOM	OMIM:616738
HP:0009439	Short middle phalanx of the 3rd finger	8200	GDF5	OMIM:615072
HP:0009439	Short middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0006213	Thin proximal phalanges with broad epiphyses of the hand	3549	IHH	OMIM:112500
HP:0006216	Single interphalangeal crease of fifth finger	4920	ROR2	OMIM:268310
HP:0006216	Single interphalangeal crease of fifth finger	5648	MASP1	OMIM:257920
HP:0006216	Single interphalangeal crease of fifth finger	3549	IHH	OMIM:607778
HP:0006216	Single interphalangeal crease of fifth finger	5932	RBBP8	OMIM:251255
HP:0006217	Limited mobility of proximal interphalangeal joint	7466	WFS1	OMIM:222300
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	658	BMPR1B	ORPHA:93396
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	650	BMP2	OMIM:112600
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	650	BMP2	ORPHA:93396
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:615072
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	27152	INTU	OMIM:617926
HP:0006224	Tapering pointed ends of distal finger phalanges	1075	CTSC	OMIM:245010
HP:0009601	Aplasia/Hypoplasia of the thumb	9935	MAFB	ORPHA:233
HP:0009601	Aplasia/Hypoplasia of the thumb	1123	CHN1	ORPHA:233
HP:0009601	Aplasia/Hypoplasia of the thumb	3981	LIG4	ORPHA:235
HP:0009601	Aplasia/Hypoplasia of the thumb	54888	NSUN2	ORPHA:235
HP:0009601	Aplasia/Hypoplasia of the thumb	5980	REV3L	ORPHA:570
HP:0009601	Aplasia/Hypoplasia of the thumb	23129	PLXND1	ORPHA:570
HP:0009601	Aplasia/Hypoplasia of the thumb	2263	FGFR2	ORPHA:87
HP:0009601	Aplasia/Hypoplasia of the thumb	2263	FGFR2	ORPHA:93258
HP:0009601	Aplasia/Hypoplasia of the thumb	10262	SF3B4	OMIM:154400
HP:0009601	Aplasia/Hypoplasia of the thumb	10262	SF3B4	ORPHA:245
HP:0009601	Aplasia/Hypoplasia of the thumb	9401	RECQL4	ORPHA:1225
HP:0009601	Aplasia/Hypoplasia of the thumb	5925	RB1	ORPHA:1587
HP:0009601	Aplasia/Hypoplasia of the thumb	64327	LMBR1	ORPHA:2378
HP:0009601	Aplasia/Hypoplasia of the thumb	64327	LMBR1	ORPHA:988
HP:0009601	Aplasia/Hypoplasia of the thumb	6469	SHH	ORPHA:988
HP:0009601	Aplasia/Hypoplasia of the thumb	2260	FGFR1	ORPHA:93258
HP:0009601	Aplasia/Hypoplasia of the thumb	157570	ESCO2	ORPHA:3103
HP:0009601	Aplasia/Hypoplasia of the thumb	157570	ESCO2	OMIM:216100
HP:0009601	Aplasia/Hypoplasia of the thumb	80144	FRAS1	OMIM:219000
HP:0009601	Aplasia/Hypoplasia of the thumb	8626	TP63	ORPHA:1896
HP:0009601	Aplasia/Hypoplasia of the thumb	727857	BHLHA9	OMIM:609432
HP:0009601	Aplasia/Hypoplasia of the thumb	57167	SALL4	ORPHA:959
HP:0009601	Aplasia/Hypoplasia of the thumb	2316	FLNA	ORPHA:1826
HP:0009601	Aplasia/Hypoplasia of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009601	Aplasia/Hypoplasia of the thumb	658	BMPR1B	OMIM:616849
HP:0009601	Aplasia/Hypoplasia of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009601	Aplasia/Hypoplasia of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009601	Aplasia/Hypoplasia of the thumb	2778	GNAS	ORPHA:79445
HP:0009601	Aplasia/Hypoplasia of the thumb	5727	PTCH1	OMIM:109400
HP:0009601	Aplasia/Hypoplasia of the thumb	3756	KCNH1	ORPHA:420561
HP:0009601	Aplasia/Hypoplasia of the thumb	2188	FANCF	OMIM:603467
HP:0009601	Aplasia/Hypoplasia of the thumb	2177	FANCD2	OMIM:227646
HP:0009601	Aplasia/Hypoplasia of the thumb	2072	ERCC4	OMIM:615272
HP:0009601	Aplasia/Hypoplasia of the thumb	5889	RAD51C	OMIM:613390
HP:0009601	Aplasia/Hypoplasia of the thumb	2176	FANCC	OMIM:227645
HP:0009601	Aplasia/Hypoplasia of the thumb	6910	TBX5	ORPHA:392
HP:0009601	Aplasia/Hypoplasia of the thumb	6910	TBX5	OMIM:142900
HP:0009601	Aplasia/Hypoplasia of the thumb	55120	FANCL	OMIM:614083
HP:0009601	Aplasia/Hypoplasia of the thumb	6651	SON	ORPHA:500150
HP:0009601	Aplasia/Hypoplasia of the thumb	340419	RSPO2	OMIM:618022
HP:0009601	Aplasia/Hypoplasia of the thumb	2187	FANCB	OMIM:300514
HP:0009601	Aplasia/Hypoplasia of the thumb	84464	SLX4	OMIM:613951
HP:0009601	Aplasia/Hypoplasia of the thumb	6154	RPL26	OMIM:614900
HP:0009601	Aplasia/Hypoplasia of the thumb	6154	RPL26	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	8452	CUL3	OMIM:619239
HP:0009601	Aplasia/Hypoplasia of the thumb	5718	PSMD12	OMIM:617516
HP:0009601	Aplasia/Hypoplasia of the thumb	9939	RBM8A	OMIM:274000
HP:0009601	Aplasia/Hypoplasia of the thumb	6223	RPS19	OMIM:105650
HP:0009601	Aplasia/Hypoplasia of the thumb	6223	RPS19	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	9896	FIG4	OMIM:216340
HP:0009601	Aplasia/Hypoplasia of the thumb	9896	FIG4	ORPHA:3472
HP:0009601	Aplasia/Hypoplasia of the thumb	6135	RPL11	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6138	RPL15	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6229	RPS24	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6125	RPL5	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6204	RPS10	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6224	RPS20	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6165	RPL35A	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	2623	GATA1	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6232	RPS27	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6231	RPS26	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	11224	RPL35	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6160	RPL31	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6218	RPS17	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6201	RPS7	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6155	RPL27	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6210	RPS15A	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	90121	TSR2	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6141	RPL18	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6235	RPS29	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6234	RPS28	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	51816	ADA2	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	55697	VAC14	ORPHA:3472
HP:0009601	Aplasia/Hypoplasia of the thumb	2178	FANCE	OMIM:600901
HP:0009601	Aplasia/Hypoplasia of the thumb	54101	RIPK4	OMIM:263650
HP:0009601	Aplasia/Hypoplasia of the thumb	54101	RIPK4	ORPHA:1234
HP:0009601	Aplasia/Hypoplasia of the thumb	55159	RFWD3	OMIM:617784
HP:0009601	Aplasia/Hypoplasia of the thumb	5888	RAD51	OMIM:617244
HP:0009601	Aplasia/Hypoplasia of the thumb	2175	FANCA	OMIM:227650
HP:0009601	Aplasia/Hypoplasia of the thumb	7516	XRCC2	OMIM:617247
HP:0009601	Aplasia/Hypoplasia of the thumb	2261	FGFR3	ORPHA:2363
HP:0009601	Aplasia/Hypoplasia of the thumb	2255	FGF10	ORPHA:2363
HP:0009601	Aplasia/Hypoplasia of the thumb	29980	DONSON	OMIM:251230
HP:0009601	Aplasia/Hypoplasia of the thumb	1280	COL2A1	OMIM:271700
HP:0009601	Aplasia/Hypoplasia of the thumb	100151683	RNU4ATAC	OMIM:210710
HP:0009601	Aplasia/Hypoplasia of the thumb	23028	KDM1A	OMIM:616728
HP:0009601	Aplasia/Hypoplasia of the thumb	23028	KDM1A	ORPHA:477993
HP:0009601	Aplasia/Hypoplasia of the thumb	29998	BICRA	OMIM:619325
HP:0009601	Aplasia/Hypoplasia of the thumb	1723	DHODH	OMIM:263750
HP:0009601	Aplasia/Hypoplasia of the thumb	1836	SLC26A2	ORPHA:93307
HP:0009601	Aplasia/Hypoplasia of the thumb	83990	BRIP1	OMIM:609054
HP:0009601	Aplasia/Hypoplasia of the thumb	526	ATP6V1B2	ORPHA:79499
HP:0009601	Aplasia/Hypoplasia of the thumb	4038	LRP4	ORPHA:3258
HP:0009601	Aplasia/Hypoplasia of the thumb	324	APC	ORPHA:3258
HP:0009601	Aplasia/Hypoplasia of the thumb	3549	IHH	ORPHA:93388
HP:0009601	Aplasia/Hypoplasia of the thumb	176	ACAN	ORPHA:435804
HP:0009601	Aplasia/Hypoplasia of the thumb	176	ACAN	OMIM:165800
HP:0009601	Aplasia/Hypoplasia of the thumb	54880	BCOR	ORPHA:2712
HP:0009601	Aplasia/Hypoplasia of the thumb	7020	TFAP2A	OMIM:113620
HP:0009601	Aplasia/Hypoplasia of the thumb	1717	DHCR7	OMIM:270400
HP:0009601	Aplasia/Hypoplasia of the thumb	10815	CPLX1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	10815	CPLX1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	54872	PIGG	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	7469	NELFA	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	1487	CTBP1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	1487	CTBP1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	3954	LETM1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	3954	LETM1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	7468	NSD2	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	7468	NSD2	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	4613	MYCN	OMIM:164280
HP:0009601	Aplasia/Hypoplasia of the thumb	4613	MYCN	ORPHA:391641
HP:0009601	Aplasia/Hypoplasia of the thumb	55636	CHD7	OMIM:214800
HP:0009601	Aplasia/Hypoplasia of the thumb	25942	SIN3A	OMIM:613406
HP:0009601	Aplasia/Hypoplasia of the thumb	53834	FGFRL1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	1387	CREBBP	OMIM:180849
HP:0009601	Aplasia/Hypoplasia of the thumb	2033	EP300	OMIM:180849
HP:0009601	Aplasia/Hypoplasia of the thumb	91461	PKDCC	OMIM:618821
HP:0009601	Aplasia/Hypoplasia of the thumb	80036	TRPM3	OMIM:620224
HP:0009601	Aplasia/Hypoplasia of the thumb	374879	ZNF699	OMIM:619488
HP:0009601	Aplasia/Hypoplasia of the thumb	7750	ZMYM2	OMIM:619522
HP:0009601	Aplasia/Hypoplasia of the thumb	79728	PALB2	OMIM:610832
HP:0009601	Aplasia/Hypoplasia of the thumb	407975	MIR17HG	ORPHA:391646
HP:0009601	Aplasia/Hypoplasia of the thumb	675	BRCA2	OMIM:605724
HP:0009601	Aplasia/Hypoplasia of the thumb	50515	CHST11	OMIM:618167
HP:0009601	Aplasia/Hypoplasia of the thumb	4256	MGP	OMIM:245150
HP:0009601	Aplasia/Hypoplasia of the thumb	9968	MED12	OMIM:300895
HP:0009601	Aplasia/Hypoplasia of the thumb	84823	LMNB2	OMIM:616540
HP:0009601	Aplasia/Hypoplasia of the thumb	2200	FBN1	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	4053	LTBP2	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	81794	ADAMTS10	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	374969	SVBP	OMIM:618569
HP:0009601	Aplasia/Hypoplasia of the thumb	26100	WIPI2	OMIM:618453
HP:0009601	Aplasia/Hypoplasia of the thumb	9775	EIF4A3	OMIM:268305
HP:0009601	Aplasia/Hypoplasia of the thumb	29089	UBE2T	OMIM:616435
HP:0009601	Aplasia/Hypoplasia of the thumb	2535	FZD2	OMIM:164745
HP:0009601	Aplasia/Hypoplasia of the thumb	2535	FZD2	ORPHA:93328
HP:0009601	Aplasia/Hypoplasia of the thumb	23476	BRD4	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	9126	SMC3	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	8243	SMC1A	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	25836	NIPBL	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	55869	HDAC8	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	5885	RAD21	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	90	ACVR1	OMIM:135100
HP:0009601	Aplasia/Hypoplasia of the thumb	57020	VPS35L	OMIM:619135
HP:0009601	Aplasia/Hypoplasia of the thumb	9241	NOG	OMIM:186570
HP:0009601	Aplasia/Hypoplasia of the thumb	9241	NOG	OMIM:611377
HP:0009601	Aplasia/Hypoplasia of the thumb	8200	GDF5	ORPHA:63442
HP:0009601	Aplasia/Hypoplasia of the thumb	8200	GDF5	OMIM:113100
HP:0009601	Aplasia/Hypoplasia of the thumb	3209	HOXA13	OMIM:140000
HP:0009601	Aplasia/Hypoplasia of the thumb	3209	HOXA13	ORPHA:2438
HP:0009601	Aplasia/Hypoplasia of the thumb	10847	SRCAP	OMIM:136140
HP:0009601	Aplasia/Hypoplasia of the thumb	55215	FANCI	OMIM:609053
HP:0009601	Aplasia/Hypoplasia of the thumb	6662	SOX9	OMIM:114290
HP:0009601	Aplasia/Hypoplasia of the thumb	5116	PCNT	OMIM:210720
HP:0009601	Aplasia/Hypoplasia of the thumb	26040	SETBP1	OMIM:269150
HP:0009601	Aplasia/Hypoplasia of the thumb	26040	SETBP1	ORPHA:798
HP:0009601	Aplasia/Hypoplasia of the thumb	388015	RTL1	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	8788	DLK1	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	55384	MEG3	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	3911	LAMA5	OMIM:620076
HP:0009601	Aplasia/Hypoplasia of the thumb	124583	CANT1	OMIM:251450
HP:0009601	Aplasia/Hypoplasia of the thumb	7204	TRIO	ORPHA:476126
HP:0006226	Osteoarthritis of the first carpometacarpal joint	54829	ASPN	OMIM:607850
HP:0006228	Valgus hand deformity	8200	GDF5	OMIM:200700
HP:0004097	Deviation of finger	1836	SLC26A2	ORPHA:56304
HP:0004097	Deviation of finger	1836	SLC26A2	OMIM:256050
HP:0004097	Deviation of finger	1836	SLC26A2	OMIM:222600
HP:0004097	Deviation of finger	79796	ALG9	ORPHA:79328
HP:0004097	Deviation of finger	22858	CILK1	OMIM:612651
HP:0004097	Deviation of finger	1954	MEGF8	OMIM:614976
HP:0004097	Deviation of finger	2317	FLNB	OMIM:108721
HP:0004097	Deviation of finger	23019	CNOT1	OMIM:618500
HP:0004097	Deviation of finger	22856	CHSY1	OMIM:605282
HP:0004097	Deviation of finger	54928	BPNT2	OMIM:614078
HP:0004097	Deviation of finger	8517	IKBKG	ORPHA:464
HP:0004097	Deviation of finger	50964	SOST	OMIM:269500
HP:0004097	Deviation of finger	51715	RAB23	OMIM:201000
HP:0004097	Deviation of finger	63895	PIEZO2	ORPHA:1154
HP:0004097	Deviation of finger	3248	HPGD	ORPHA:1525
HP:0004097	Deviation of finger	11253	MAN1B1	ORPHA:397941
HP:0004097	Deviation of finger	11253	MAN1B1	OMIM:614202
HP:0004097	Deviation of finger	340533	NEXMIF	OMIM:300912
HP:0004097	Deviation of finger	1139	CHRNA7	ORPHA:199318
HP:0004097	Deviation of finger	1139	CHRNA7	OMIM:612001
HP:0004097	Deviation of finger	2132	EXT2	OMIM:616682
HP:0004097	Deviation of finger	23135	KDM6B	OMIM:618505
HP:0004097	Deviation of finger	6659	SOX4	OMIM:618506
HP:0004097	Deviation of finger	1947	EFNB1	ORPHA:1520
HP:0004097	Deviation of finger	1947	EFNB1	OMIM:304110
HP:0004097	Deviation of finger	4010	LMX1B	ORPHA:2614
HP:0004097	Deviation of finger	4010	LMX1B	OMIM:161200
HP:0004097	Deviation of finger	10054	UBA2	OMIM:619959
HP:0004097	Deviation of finger	51126	NAA20	OMIM:619717
HP:0004097	Deviation of finger	2972	BRF1	OMIM:616202
HP:0004097	Deviation of finger	9820	CUL7	ORPHA:2616
HP:0004097	Deviation of finger	9820	CUL7	OMIM:273750
HP:0004097	Deviation of finger	23363	OBSL1	ORPHA:2616
HP:0004097	Deviation of finger	83987	CCDC8	ORPHA:2616
HP:0004097	Deviation of finger	83987	CCDC8	OMIM:614205
HP:0004097	Deviation of finger	7021	TFAP2B	OMIM:169100
HP:0004097	Deviation of finger	7021	TFAP2B	ORPHA:46627
HP:0004097	Deviation of finger	7021	TFAP2B	OMIM:617035
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:231140
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:231144
HP:0004097	Deviation of finger	3481	IGF2	OMIM:616489
HP:0004097	Deviation of finger	3481	IGF2	OMIM:180860
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:397590
HP:0004097	Deviation of finger	283120	H19	ORPHA:231140
HP:0004097	Deviation of finger	283120	H19	ORPHA:231144
HP:0004097	Deviation of finger	197131	UBR1	OMIM:243800
HP:0004097	Deviation of finger	5932	RBBP8	OMIM:606744
HP:0004097	Deviation of finger	5932	RBBP8	ORPHA:808
HP:0004097	Deviation of finger	3021	H3-3B	OMIM:619721
HP:0004097	Deviation of finger	4286	MITF	OMIM:617306
HP:0004097	Deviation of finger	23384	SPECC1L	ORPHA:1519
HP:0004097	Deviation of finger	57539	WDR35	ORPHA:1515
HP:0004097	Deviation of finger	112752	IFT43	ORPHA:1515
HP:0004097	Deviation of finger	51098	IFT52	ORPHA:1515
HP:0004097	Deviation of finger	57728	WDR19	ORPHA:1515
HP:0004097	Deviation of finger	55636	CHD7	ORPHA:138
HP:0004097	Deviation of finger	9723	SEMA3E	ORPHA:138
HP:0004097	Deviation of finger	90	ACVR1	OMIM:135100
HP:0004097	Deviation of finger	90	ACVR1	ORPHA:337
HP:0004097	Deviation of finger	3190	HNRNPK	OMIM:616580
HP:0004097	Deviation of finger	10606	PAICS	OMIM:619859
HP:0004097	Deviation of finger	1009	CDH11	OMIM:619736
HP:0004097	Deviation of finger	64359	NXN	ORPHA:1507
HP:0004097	Deviation of finger	727857	BHLHA9	ORPHA:157801
HP:0004097	Deviation of finger	727857	BHLHA9	OMIM:609432
HP:0004097	Deviation of finger	4297	KMT2A	ORPHA:319182
HP:0004097	Deviation of finger	4297	KMT2A	OMIM:605130
HP:0004097	Deviation of finger	23327	NEDD4L	OMIM:617201
HP:0004097	Deviation of finger	7291	TWIST1	OMIM:101400
HP:0004097	Deviation of finger	7291	TWIST1	ORPHA:794
HP:0004097	Deviation of finger	2783	GNB2	OMIM:619503
HP:0004097	Deviation of finger	3981	LIG4	ORPHA:235
HP:0004097	Deviation of finger	3981	LIG4	ORPHA:99812
HP:0004097	Deviation of finger	3981	LIG4	OMIM:606593
HP:0004097	Deviation of finger	54888	NSUN2	ORPHA:235
HP:0004097	Deviation of finger	1182	CLCN3	OMIM:619512
HP:0004097	Deviation of finger	85301	COL27A1	OMIM:615155
HP:0004097	Deviation of finger	5048	PAFAH1B1	ORPHA:217385
HP:0004097	Deviation of finger	5048	PAFAH1B1	ORPHA:531
HP:0004097	Deviation of finger	7531	YWHAE	ORPHA:217385
HP:0004097	Deviation of finger	7531	YWHAE	ORPHA:531
HP:0004097	Deviation of finger	8364	H4C3	OMIM:619758
HP:0004097	Deviation of finger	5590	PRKCZ	ORPHA:1606
HP:0004097	Deviation of finger	2563	GABRD	ORPHA:1606
HP:0004097	Deviation of finger	23013	SPEN	ORPHA:1606
HP:0004097	Deviation of finger	8510	MMP23B	ORPHA:1606
HP:0004097	Deviation of finger	7798	LUZP1	ORPHA:1606
HP:0004097	Deviation of finger	6497	SKI	ORPHA:1606
HP:0004097	Deviation of finger	10630	PDPN	ORPHA:1606
HP:0004097	Deviation of finger	3339	HSPG2	ORPHA:1606
HP:0004097	Deviation of finger	10277	UBE4B	ORPHA:1606
HP:0004097	Deviation of finger	8514	KCNAB2	ORPHA:1606
HP:0004097	Deviation of finger	473	RERE	ORPHA:1606
HP:0004097	Deviation of finger	473	RERE	OMIM:616975
HP:0004097	Deviation of finger	63976	PRDM16	ORPHA:1606
HP:0004097	Deviation of finger	54897	CASZ1	ORPHA:1606
HP:0004097	Deviation of finger	6134	RPL10	ORPHA:459070
HP:0004097	Deviation of finger	6134	RPL10	OMIM:300998
HP:0004097	Deviation of finger	7750	ZMYM2	OMIM:619522
HP:0004097	Deviation of finger	4849	CNOT3	OMIM:618672
HP:0004097	Deviation of finger	6942	TCF20	OMIM:618430
HP:0004097	Deviation of finger	641	BLM	OMIM:210900
HP:0004097	Deviation of finger	57492	ARID1B	ORPHA:251056
HP:0004097	Deviation of finger	57492	ARID1B	OMIM:135900
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:576283
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:251028
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:251019
HP:0004097	Deviation of finger	2239	GPC4	ORPHA:373
HP:0004097	Deviation of finger	2239	GPC4	ORPHA:2662
HP:0004097	Deviation of finger	2719	GPC3	ORPHA:373
HP:0004097	Deviation of finger	23162	MAPK8IP3	OMIM:618443
HP:0004097	Deviation of finger	57479	PRR12	OMIM:619539
HP:0004097	Deviation of finger	1387	CREBBP	OMIM:618332
HP:0004097	Deviation of finger	1387	CREBBP	OMIM:180849
HP:0004097	Deviation of finger	26100	WIPI2	OMIM:618453
HP:0004097	Deviation of finger	10533	ATG7	OMIM:619422
HP:0004097	Deviation of finger	8295	TRRAP	OMIM:618454
HP:0004097	Deviation of finger	7227	TRPS1	ORPHA:77258
HP:0004097	Deviation of finger	9949	AMMECR1	OMIM:300990
HP:0004097	Deviation of finger	3479	IGF1	ORPHA:73272
HP:0004097	Deviation of finger	3479	IGF1	OMIM:608747
HP:0004097	Deviation of finger	6477	SIAH1	OMIM:619314
HP:0004097	Deviation of finger	8473	OGT	OMIM:300997
HP:0004097	Deviation of finger	10785	WDR4	OMIM:618347
HP:0004097	Deviation of finger	1798	DPAGT1	OMIM:608093
HP:0004097	Deviation of finger	100151683	RNU4ATAC	ORPHA:353298
HP:0004097	Deviation of finger	100151683	RNU4ATAC	OMIM:226960
HP:0004097	Deviation of finger	100151683	RNU4ATAC	OMIM:616651
HP:0004097	Deviation of finger	100151683	RNU4ATAC	ORPHA:2636
HP:0004097	Deviation of finger	117581	TWIST2	OMIM:200110
HP:0004097	Deviation of finger	117581	TWIST2	OMIM:209885
HP:0004097	Deviation of finger	23030	KDM4B	OMIM:619320
HP:0004097	Deviation of finger	1725	DHPS	OMIM:618480
HP:0004097	Deviation of finger	55777	MBD5	OMIM:156200
HP:0004097	Deviation of finger	55777	MBD5	ORPHA:228402
HP:0004097	Deviation of finger	5980	REV3L	ORPHA:570
HP:0004097	Deviation of finger	23129	PLXND1	ORPHA:570
HP:0004097	Deviation of finger	4784	NFIX	OMIM:602535
HP:0004097	Deviation of finger	4998	ORC1	OMIM:224690
HP:0004097	Deviation of finger	4998	ORC1	ORPHA:2554
HP:0004097	Deviation of finger	4052	LTBP1	OMIM:619451
HP:0004097	Deviation of finger	7468	NSD2	OMIM:619695
HP:0004097	Deviation of finger	9496	TBX4	ORPHA:261279
HP:0004097	Deviation of finger	8091	HMGA2	ORPHA:94063
HP:0004097	Deviation of finger	8091	HMGA2	ORPHA:397590
HP:0004097	Deviation of finger	23592	LEMD3	ORPHA:94063
HP:0004097	Deviation of finger	164	AP1G1	OMIM:619467
HP:0004097	Deviation of finger	5283	PIGH	OMIM:618010
HP:0004097	Deviation of finger	50801	KCNK4	OMIM:618381
HP:0004097	Deviation of finger	9757	KMT2B	ORPHA:589618
HP:0004097	Deviation of finger	4613	MYCN	ORPHA:391641
HP:0004097	Deviation of finger	57003	CCDC47	OMIM:618268
HP:0004097	Deviation of finger	8812	CCNK	OMIM:618147
HP:0004097	Deviation of finger	5977	DPF2	OMIM:618027
HP:0004097	Deviation of finger	29895	MYL11	OMIM:619110
HP:0004097	Deviation of finger	94005	PIGS	OMIM:618143
HP:0004097	Deviation of finger	2033	EP300	OMIM:180849
HP:0004097	Deviation of finger	92002	CCNQ	OMIM:300707
HP:0004097	Deviation of finger	92002	CCNQ	ORPHA:140952
HP:0004097	Deviation of finger	285590	SH3PXD2B	ORPHA:137834
HP:0004097	Deviation of finger	80036	TRPM3	OMIM:620224
HP:0004097	Deviation of finger	526	ATP6V1B2	ORPHA:79500
HP:0004097	Deviation of finger	57465	TBC1D24	ORPHA:79500
HP:0004097	Deviation of finger	57465	TBC1D24	OMIM:220500
HP:0004097	Deviation of finger	5728	PTEN	ORPHA:744
HP:0004097	Deviation of finger	207	AKT1	ORPHA:744
HP:0004097	Deviation of finger	2887	GRB10	ORPHA:96182
HP:0004097	Deviation of finger	1457	CSNK2A1	OMIM:617062
HP:0004097	Deviation of finger	7204	TRIO	OMIM:617061
HP:0004097	Deviation of finger	7204	TRIO	ORPHA:476126
HP:0004097	Deviation of finger	28952	CCDC22	OMIM:300963
HP:0004097	Deviation of finger	90416	CCDC32	OMIM:619123
HP:0004097	Deviation of finger	8450	CUL4B	ORPHA:85293
HP:0004097	Deviation of finger	55717	WDR11	OMIM:620237
HP:0004097	Deviation of finger	22995	CEP152	OMIM:613823
HP:0004097	Deviation of finger	22995	CEP152	ORPHA:808
HP:0004097	Deviation of finger	3090	HIC1	ORPHA:531
HP:0004097	Deviation of finger	10436	EMG1	OMIM:211180
HP:0004097	Deviation of finger	10436	EMG1	ORPHA:1270
HP:0004097	Deviation of finger	23387	SIK3	OMIM:618162
HP:0004097	Deviation of finger	10084	PQBP1	OMIM:309500
HP:0004097	Deviation of finger	5745	PTH1R	OMIM:156400
HP:0004097	Deviation of finger	89970	RSPRY1	ORPHA:457395
HP:0004097	Deviation of finger	9487	PIGL	OMIM:280000
HP:0004097	Deviation of finger	867	CBL	ORPHA:648
HP:0004097	Deviation of finger	8216	LZTR1	ORPHA:648
HP:0004097	Deviation of finger	6016	RIT1	ORPHA:648
HP:0004097	Deviation of finger	6237	RRAS	ORPHA:648
HP:0004097	Deviation of finger	5894	RAF1	ORPHA:648
HP:0004097	Deviation of finger	22808	MRAS	ORPHA:648
HP:0004097	Deviation of finger	3845	KRAS	ORPHA:648
HP:0004097	Deviation of finger	200734	SPRED2	ORPHA:648
HP:0004097	Deviation of finger	4893	NRAS	ORPHA:648
HP:0004097	Deviation of finger	6654	SOS1	ORPHA:648
HP:0004097	Deviation of finger	6655	SOS2	ORPHA:648
HP:0004097	Deviation of finger	5922	RASA2	ORPHA:648
HP:0004097	Deviation of finger	23522	KAT6B	ORPHA:3047
HP:0004097	Deviation of finger	6913	TBX15	OMIM:260660
HP:0004097	Deviation of finger	79023	NUP37	OMIM:618179
HP:0004097	Deviation of finger	375056	MIA3	OMIM:619269
HP:0004097	Deviation of finger	27161	AGO2	OMIM:619149
HP:0004097	Deviation of finger	5567	PRKACB	OMIM:619143
HP:0004097	Deviation of finger	221927	BRAT1	OMIM:618056
HP:0004097	Deviation of finger	8823	FGF16	OMIM:309630
HP:0004097	Deviation of finger	161742	SPRED1	ORPHA:137605
HP:0004097	Deviation of finger	7337	UBE3A	ORPHA:238446
HP:0004097	Deviation of finger	1832	DSP	ORPHA:158687
HP:0004097	Deviation of finger	1832	DSP	OMIM:609638
HP:0004097	Deviation of finger	3728	JUP	ORPHA:158687
HP:0004097	Deviation of finger	23241	PACS2	OMIM:618067
HP:0004097	Deviation of finger	26128	KIFBP	OMIM:609460
HP:0004097	Deviation of finger	23556	PIGN	ORPHA:2059
HP:0004097	Deviation of finger	7518	XRCC4	ORPHA:99812
HP:0004097	Deviation of finger	8854	ALDH1A2	OMIM:620025
HP:0004097	Deviation of finger	10274	STAG1	ORPHA:502434
HP:0004097	Deviation of finger	89910	UBE3B	OMIM:244450
HP:0004097	Deviation of finger	2314	FLII	ORPHA:819
HP:0004097	Deviation of finger	23096	IQSEC2	ORPHA:819
HP:0004097	Deviation of finger	10743	RAI1	ORPHA:819
HP:0004097	Deviation of finger	10522	DEAF1	ORPHA:819
HP:0004097	Deviation of finger	6595	SMARCA2	OMIM:619293
HP:0004097	Deviation of finger	10459	MAD2L2	ORPHA:84
HP:0004097	Deviation of finger	7516	XRCC2	ORPHA:84
HP:0004097	Deviation of finger	29089	UBE2T	ORPHA:84
HP:0004097	Deviation of finger	675	BRCA2	ORPHA:84
HP:0004097	Deviation of finger	55120	FANCL	ORPHA:84
HP:0004097	Deviation of finger	2177	FANCD2	ORPHA:84
HP:0004097	Deviation of finger	2175	FANCA	ORPHA:84
HP:0004097	Deviation of finger	2176	FANCC	ORPHA:84
HP:0004097	Deviation of finger	2178	FANCE	ORPHA:84
HP:0004097	Deviation of finger	2188	FANCF	ORPHA:84
HP:0004097	Deviation of finger	2189	FANCG	ORPHA:84
HP:0004097	Deviation of finger	5888	RAD51	ORPHA:84
HP:0004097	Deviation of finger	55159	RFWD3	ORPHA:84
HP:0004097	Deviation of finger	83990	BRIP1	ORPHA:84
HP:0004097	Deviation of finger	57697	FANCM	ORPHA:84
HP:0004097	Deviation of finger	79728	PALB2	ORPHA:84
HP:0004097	Deviation of finger	84464	SLX4	ORPHA:84
HP:0004097	Deviation of finger	2072	ERCC4	ORPHA:84
HP:0004097	Deviation of finger	55215	FANCI	ORPHA:84
HP:0004097	Deviation of finger	84823	LMNB2	OMIM:619180
HP:0004097	Deviation of finger	9184	BUB3	ORPHA:1052
HP:0004097	Deviation of finger	699	BUB1	ORPHA:1052
HP:0004097	Deviation of finger	699	BUB1	OMIM:620183
HP:0004097	Deviation of finger	9702	CEP57	ORPHA:1052
HP:0004097	Deviation of finger	9702	CEP57	OMIM:614114
HP:0004097	Deviation of finger	9319	TRIP13	ORPHA:1052
HP:0004097	Deviation of finger	701	BUB1B	ORPHA:1052
HP:0004097	Deviation of finger	54476	RNF216	ORPHA:1173
HP:0004097	Deviation of finger	10908	PNPLA6	ORPHA:1173
HP:0004097	Deviation of finger	23036	ZNF292	OMIM:619188
HP:0004097	Deviation of finger	51199	NIN	OMIM:614851
HP:0004097	Deviation of finger	51199	NIN	ORPHA:319675
HP:0004097	Deviation of finger	4953	ODC1	OMIM:619075
HP:0004097	Deviation of finger	4953	ODC1	ORPHA:544488
HP:0004097	Deviation of finger	1857	DVL3	ORPHA:3107
HP:0004097	Deviation of finger	2535	FZD2	ORPHA:3107
HP:0004097	Deviation of finger	2535	FZD2	OMIM:164745
HP:0004097	Deviation of finger	26053	AUTS2	OMIM:615834
HP:0004097	Deviation of finger	6804	STX1A	ORPHA:904
HP:0004097	Deviation of finger	7461	CLIP2	ORPHA:904
HP:0004097	Deviation of finger	84277	DNAJC30	ORPHA:904
HP:0004097	Deviation of finger	8468	FKBP6	ORPHA:904
HP:0004097	Deviation of finger	5982	RFC2	ORPHA:904
HP:0004097	Deviation of finger	2969	GTF2I	ORPHA:904
HP:0004097	Deviation of finger	3984	LIMK1	ORPHA:904
HP:0004097	Deviation of finger	9569	GTF2IRD1	ORPHA:904
HP:0004097	Deviation of finger	155382	VPS37D	ORPHA:904
HP:0004097	Deviation of finger	155368	METTL27	ORPHA:904
HP:0004097	Deviation of finger	114049	BUD23	ORPHA:904
HP:0004097	Deviation of finger	7458	EIF4H	ORPHA:904
HP:0004097	Deviation of finger	84163	GTF2IRD2	ORPHA:904
HP:0004097	Deviation of finger	9275	BCL7B	ORPHA:904
HP:0004097	Deviation of finger	26608	TBL2	ORPHA:904
HP:0004097	Deviation of finger	653361	NCF1	ORPHA:904
HP:0004097	Deviation of finger	135886	TMEM270	ORPHA:904
HP:0004097	Deviation of finger	51085	MLXIPL	ORPHA:904
HP:0004097	Deviation of finger	51085	MLXIPL	OMIM:194050
HP:0004097	Deviation of finger	9031	BAZ1B	ORPHA:904
HP:0004097	Deviation of finger	2006	ELN	ORPHA:904
HP:0004097	Deviation of finger	2006	ELN	OMIM:194050
HP:0004097	Deviation of finger	3207	HOXA11	ORPHA:71289
HP:0004097	Deviation of finger	3207	HOXA11	OMIM:605432
HP:0004097	Deviation of finger	81031	SLC2A10	ORPHA:3342
HP:0004097	Deviation of finger	55165	CEP55	OMIM:236500
HP:0004097	Deviation of finger	84992	PIGY	OMIM:616809
HP:0004097	Deviation of finger	4094	MAF	ORPHA:1272
HP:0004097	Deviation of finger	6628	SNRPB	ORPHA:1393
HP:0004097	Deviation of finger	6628	SNRPB	OMIM:117650
HP:0004097	Deviation of finger	1028	CDKN1C	ORPHA:397590
HP:0004097	Deviation of finger	5324	PLAG1	ORPHA:397590
HP:0004097	Deviation of finger	9555	MACROH2A1	ORPHA:1275
HP:0004097	Deviation of finger	5307	PITX1	ORPHA:1275
HP:0004097	Deviation of finger	5422	POLA1	ORPHA:163976
HP:0004097	Deviation of finger	5422	POLA1	OMIM:301030
HP:0004097	Deviation of finger	10430	TMEM147	OMIM:620075
HP:0004097	Deviation of finger	3187	HNRNPH1	OMIM:620083
HP:0004097	Deviation of finger	23414	ZFPM2	OMIM:187500
HP:0004097	Deviation of finger	23414	ZFPM2	ORPHA:3303
HP:0004097	Deviation of finger	1482	NKX2-5	OMIM:187500
HP:0004097	Deviation of finger	1482	NKX2-5	ORPHA:3303
HP:0004097	Deviation of finger	182	JAG1	OMIM:187500
HP:0004097	Deviation of finger	182	JAG1	ORPHA:3303
HP:0004097	Deviation of finger	6899	TBX1	OMIM:187500
HP:0004097	Deviation of finger	6899	TBX1	ORPHA:3303
HP:0004097	Deviation of finger	2627	GATA6	OMIM:187500
HP:0004097	Deviation of finger	2627	GATA6	ORPHA:3303
HP:0004097	Deviation of finger	545	ATR	ORPHA:808
HP:0004097	Deviation of finger	545	ATR	OMIM:210600
HP:0004097	Deviation of finger	1062	CENPE	ORPHA:808
HP:0004097	Deviation of finger	5116	PCNT	ORPHA:808
HP:0004097	Deviation of finger	5116	PCNT	OMIM:210720
HP:0004097	Deviation of finger	5116	PCNT	ORPHA:2637
HP:0004097	Deviation of finger	79902	NUP85	ORPHA:808
HP:0004097	Deviation of finger	84126	ATRIP	ORPHA:808
HP:0004097	Deviation of finger	55835	CENPJ	ORPHA:808
HP:0004097	Deviation of finger	10293	TRAIP	ORPHA:808
HP:0004097	Deviation of finger	10733	PLK4	ORPHA:808
HP:0004097	Deviation of finger	9939	RBM8A	ORPHA:3320
HP:0004097	Deviation of finger	9939	RBM8A	OMIM:274000
HP:0004097	Deviation of finger	55023	PHIP	ORPHA:589905
HP:0004097	Deviation of finger	55023	PHIP	OMIM:617991
HP:0004097	Deviation of finger	2702	GJA5	OMIM:612474
HP:0004097	Deviation of finger	2702	GJA5	ORPHA:3303
HP:0004097	Deviation of finger	2703	GJA8	OMIM:612474
HP:0004097	Deviation of finger	3897	L1CAM	ORPHA:2466
HP:0004097	Deviation of finger	4208	MEF2C	OMIM:613443
HP:0004097	Deviation of finger	55690	PACS1	ORPHA:329224
HP:0004097	Deviation of finger	9230	RAB11B	OMIM:617807
HP:0004097	Deviation of finger	51621	KLF13	OMIM:612001
HP:0004097	Deviation of finger	5648	MASP1	OMIM:257920
HP:0004097	Deviation of finger	23394	ADNP	OMIM:615873
HP:0004097	Deviation of finger	9759	HDAC4	ORPHA:1001
HP:0004097	Deviation of finger	11133	KPTN	OMIM:615637
HP:0004097	Deviation of finger	11133	KPTN	ORPHA:397612
HP:0004097	Deviation of finger	85358	SHANK3	OMIM:606232
HP:0004097	Deviation of finger	85358	SHANK3	ORPHA:48652
HP:0004097	Deviation of finger	23028	KDM1A	OMIM:616728
HP:0004097	Deviation of finger	23028	KDM1A	ORPHA:477993
HP:0004097	Deviation of finger	137814	NKX2-6	ORPHA:3303
HP:0004097	Deviation of finger	3791	KDR	ORPHA:3303
HP:0004097	Deviation of finger	2657	GDF1	ORPHA:3303
HP:0004097	Deviation of finger	140628	GATA5	ORPHA:3303
HP:0004097	Deviation of finger	2324	FLT4	ORPHA:3303
HP:0004097	Deviation of finger	10370	CITED2	ORPHA:3303
HP:0004097	Deviation of finger	2334	AFF2	ORPHA:100973
HP:0004097	Deviation of finger	10847	SRCAP	OMIM:136140
HP:0004097	Deviation of finger	10982	MAPRE2	OMIM:616734
HP:0004097	Deviation of finger	4131	MAP1B	OMIM:618918
HP:0004097	Deviation of finger	54808	DYM	OMIM:223800
HP:0004097	Deviation of finger	84679	SLC9A7	OMIM:301024
HP:0004097	Deviation of finger	10735	STAG2	OMIM:301022
HP:0004097	Deviation of finger	10265	IRX5	OMIM:611174
HP:0004097	Deviation of finger	5925	RB1	ORPHA:1587
HP:0004097	Deviation of finger	7874	USP7	OMIM:616863
HP:0004097	Deviation of finger	3759	KCNJ2	OMIM:170390
HP:0004097	Deviation of finger	81620	CDT1	ORPHA:2554
HP:0004097	Deviation of finger	5000	ORC4	ORPHA:2554
HP:0004097	Deviation of finger	23594	ORC6	ORPHA:2554
HP:0004097	Deviation of finger	8318	CDC45	ORPHA:2554
HP:0004097	Deviation of finger	990	CDC6	ORPHA:2554
HP:0004097	Deviation of finger	51053	GMNN	ORPHA:2554
HP:0004097	Deviation of finger	64093	SMOC1	ORPHA:1106
HP:0004097	Deviation of finger	25	ABL1	OMIM:617602
HP:0004097	Deviation of finger	83696	TRAPPC9	ORPHA:352530
HP:0004097	Deviation of finger	860	RUNX2	ORPHA:1452
HP:0004097	Deviation of finger	29980	DONSON	OMIM:617604
HP:0004097	Deviation of finger	10664	CTCF	ORPHA:363611
HP:0004097	Deviation of finger	157680	VPS13B	ORPHA:193
HP:0004097	Deviation of finger	22931	RAB18	OMIM:614222
HP:0004097	Deviation of finger	9894	TELO2	ORPHA:488642
HP:0004097	Deviation of finger	490	ATP2B1	OMIM:619910
HP:0004097	Deviation of finger	8405	SPOP	OMIM:618828
HP:0004097	Deviation of finger	8405	SPOP	OMIM:618829
HP:0004097	Deviation of finger	284252	KCTD1	OMIM:181270
HP:0004097	Deviation of finger	54870	QRICH1	OMIM:617982
HP:0004097	Deviation of finger	139285	AMER1	OMIM:300373
HP:0004097	Deviation of finger	4841	NONO	ORPHA:466791
HP:0004097	Deviation of finger	1663	DDX11	OMIM:613398
HP:0004097	Deviation of finger	51317	PHF21A	OMIM:618725
HP:0004097	Deviation of finger	2186	BPTF	OMIM:617755
HP:0004097	Deviation of finger	4848	CNOT2	OMIM:618608
HP:0004097	Deviation of finger	64131	XYLT1	ORPHA:1425
HP:0004097	Deviation of finger	4204	MECP2	OMIM:300260
HP:0004097	Deviation of finger	55553	SOX6	OMIM:618971
HP:0004097	Deviation of finger	84148	KAT8	OMIM:618974
HP:0004097	Deviation of finger	4882	NPR2	OMIM:615923
HP:0004097	Deviation of finger	2697	GJA1	OMIM:257850
HP:0004097	Deviation of finger	9469	CHST3	OMIM:143095
HP:0004097	Deviation of finger	5518	PPP2R1A	OMIM:616362
HP:0004097	Deviation of finger	3549	IHH	OMIM:112500
HP:0004097	Deviation of finger	2263	FGFR2	OMIM:149730
HP:0004097	Deviation of finger	51651	PTRH2	OMIM:616263
HP:0004097	Deviation of finger	51651	PTRH2	ORPHA:456312
HP:0004097	Deviation of finger	8200	GDF5	OMIM:113100
HP:0004097	Deviation of finger	650	BMP2	OMIM:112600
HP:0004097	Deviation of finger	3209	HOXA13	OMIM:140000
HP:0004097	Deviation of finger	29123	ANKRD11	OMIM:148050
HP:0004097	Deviation of finger	23483	TGDS	OMIM:616145
HP:0004097	Deviation of finger	1146	CHRNG	OMIM:265000
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:2053
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:1147
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:1146
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:2053
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:1147
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:1146
HP:0004097	Deviation of finger	7476	WNT7A	OMIM:228930
HP:0004097	Deviation of finger	7140	TNNT3	ORPHA:1147
HP:0004097	Deviation of finger	7140	TNNT3	ORPHA:1146
HP:0004097	Deviation of finger	7169	TPM2	ORPHA:1147
HP:0004097	Deviation of finger	7169	TPM2	ORPHA:1146
HP:0004097	Deviation of finger	7136	TNNI2	ORPHA:1147
HP:0004097	Deviation of finger	7136	TNNI2	ORPHA:1146
HP:0004097	Deviation of finger	23233	EXOC6B	ORPHA:93359
HP:0004097	Deviation of finger	126792	B3GALT6	ORPHA:93359
HP:0004097	Deviation of finger	4604	MYBPC1	ORPHA:1146
HP:0004097	Deviation of finger	22930	RAB3GAP1	ORPHA:1387
HP:0004097	Deviation of finger	25782	RAB3GAP2	ORPHA:1387
HP:0004097	Deviation of finger	5077	PAX3	ORPHA:1529
HP:0004097	Deviation of finger	6473	SHOX	ORPHA:2632
HP:0004097	Deviation of finger	50945	TBX22	ORPHA:921
HP:0004097	Deviation of finger	3265	HRAS	ORPHA:3071
HP:0004097	Deviation of finger	613	BCR	ORPHA:261330
HP:0004097	Deviation of finger	1399	CRKL	ORPHA:261330
HP:0004097	Deviation of finger	5594	MAPK1	ORPHA:261330
HP:0004097	Deviation of finger	3977	LIFR	OMIM:601559
HP:0004097	Deviation of finger	3239	HOXD13	ORPHA:93406
HP:0004097	Deviation of finger	2201	FBN2	OMIM:121050
HP:0004097	Deviation of finger	1717	DHCR7	ORPHA:818
HP:0004097	Deviation of finger	6299	SALL1	ORPHA:857
HP:0004097	Deviation of finger	51339	DACT1	ORPHA:857
HP:0004097	Deviation of finger	658	BMPR1B	ORPHA:93384
HP:0004097	Deviation of finger	10225	CD96	OMIM:211750
HP:0004097	Deviation of finger	9382	COG1	OMIM:611209
HP:0004097	Deviation of finger	389827	MYMK	ORPHA:1358
HP:0004097	Deviation of finger	101929726	MYMX	ORPHA:1358
HP:0004097	Deviation of finger	59341	TRPV4	OMIM:606835
HP:0004097	Deviation of finger	59341	TRPV4	OMIM:113500
HP:0004097	Deviation of finger	4920	ROR2	OMIM:268310
HP:0004097	Deviation of finger	5295	PIK3R1	OMIM:269880
HP:0004097	Deviation of finger	2245	FGD1	OMIM:305400
HP:0004097	Deviation of finger	10262	SF3B4	OMIM:154400
HP:0004097	Deviation of finger	65250	CPLANE1	OMIM:277170
HP:0004097	Deviation of finger	8260	NAA10	OMIM:309800
HP:0004097	Deviation of finger	54880	BCOR	OMIM:309800
HP:0004097	Deviation of finger	9241	NOG	OMIM:186570
HP:0004097	Deviation of finger	9241	NOG	OMIM:186500
HP:0004097	Deviation of finger	546	ATRX	OMIM:309580
HP:0004097	Deviation of finger	546	ATRX	OMIM:301040
HP:0004097	Deviation of finger	2146	EZH2	OMIM:277590
HP:0004097	Deviation of finger	84100	ARL6	OMIM:209900
HP:0004097	Deviation of finger	79140	CCDC28B	OMIM:209900
HP:0004097	Deviation of finger	582	BBS1	OMIM:209900
HP:0004097	Deviation of finger	157570	ESCO2	ORPHA:3103
HP:0004097	Deviation of finger	157570	ESCO2	OMIM:268300
HP:0004097	Deviation of finger	7681	MKRN3	OMIM:176270
HP:0004097	Deviation of finger	3653	IPW	OMIM:176270
HP:0004097	Deviation of finger	54551	MAGEL2	OMIM:176270
HP:0004097	Deviation of finger	791114	PWRN1	OMIM:176270
HP:0004097	Deviation of finger	100033413	SNORD116-1	OMIM:176270
HP:0004097	Deviation of finger	8924	HERC2	OMIM:176270
HP:0004097	Deviation of finger	145624	PWAR1	OMIM:176270
HP:0004097	Deviation of finger	23742	NPAP1	OMIM:176270
HP:0004097	Deviation of finger	338433	SNORD115-1	OMIM:176270
HP:0004097	Deviation of finger	55764	IFT122	OMIM:218330
HP:0004097	Deviation of finger	7474	WNT5A	OMIM:180700
HP:0004097	Deviation of finger	1855	DVL1	OMIM:180700
HP:0004097	Deviation of finger	257	ALX3	OMIM:136760
HP:0004097	Deviation of finger	4089	SMAD4	OMIM:139210
HP:0004097	Deviation of finger	54903	MKS1	OMIM:249000
HP:0004097	Deviation of finger	2261	FGFR3	OMIM:602849
HP:0004097	Deviation of finger	8481	OFD1	OMIM:311200
HP:0004097	Deviation of finger	25942	SIN3A	OMIM:613406
HP:0004097	Deviation of finger	9968	MED12	OMIM:305450
HP:0004097	Deviation of finger	9244	CRLF1	OMIM:272430
HP:0004097	Deviation of finger	3480	IGF1R	OMIM:270450
HP:0004097	Deviation of finger	5604	MAP2K1	OMIM:163950
HP:0004097	Deviation of finger	5781	PTPN11	OMIM:163950
HP:0004097	Deviation of finger	673	BRAF	OMIM:163950
HP:0004097	Deviation of finger	26227	PHGDH	OMIM:256520
HP:0004097	Deviation of finger	2316	FLNA	OMIM:304120
HP:0004097	Deviation of finger	124583	CANT1	OMIM:251450
HP:0004097	Deviation of finger	81857	MED25	ORPHA:464738
HP:0004097	Deviation of finger	80207	OPA3	ORPHA:67036
HP:0004097	Deviation of finger	23476	BRD4	ORPHA:199
HP:0004097	Deviation of finger	9126	SMC3	ORPHA:199
HP:0004097	Deviation of finger	9126	SMC3	OMIM:610759
HP:0004097	Deviation of finger	8243	SMC1A	ORPHA:199
HP:0004097	Deviation of finger	8243	SMC1A	OMIM:300590
HP:0004097	Deviation of finger	25836	NIPBL	ORPHA:199
HP:0004097	Deviation of finger	25836	NIPBL	OMIM:122470
HP:0004097	Deviation of finger	55869	HDAC8	ORPHA:199
HP:0004097	Deviation of finger	55869	HDAC8	OMIM:300882
HP:0004097	Deviation of finger	5885	RAD21	ORPHA:199
HP:0004097	Deviation of finger	9361	LONP1	OMIM:600373
HP:0004097	Deviation of finger	579	NKX3-2	OMIM:613330
HP:0004097	Deviation of finger	145173	B3GLCT	OMIM:261540
HP:0004097	Deviation of finger	998	CDC42	ORPHA:487796
HP:0004097	Deviation of finger	998	CDC42	OMIM:616737
HP:0004097	Deviation of finger	22800	RRAS2	OMIM:618624
HP:0004097	Deviation of finger	2187	FANCB	OMIM:314390
HP:0004097	Deviation of finger	7547	ZIC3	OMIM:314390
HP:0004097	Deviation of finger	8314	BAP1	OMIM:619762
HP:0004097	Deviation of finger	6472	SHMT2	OMIM:619121
HP:0004097	Deviation of finger	118924	FRA10AC1	OMIM:620113
HP:0004097	Deviation of finger	5889	RAD51C	OMIM:613390
HP:0004097	Deviation of finger	652	BMP4	ORPHA:139471
HP:0004097	Deviation of finger	55906	ZC4H2	OMIM:314580
HP:0004097	Deviation of finger	79087	ALG12	ORPHA:79324
HP:0004097	Deviation of finger	3756	KCNH1	OMIM:611816
HP:0004097	Deviation of finger	2626	GATA4	ORPHA:251071
HP:0004097	Deviation of finger	7020	TFAP2A	OMIM:113620
HP:0004097	Deviation of finger	9775	EIF4A3	OMIM:268305
HP:0004097	Deviation of finger	672	BRCA1	OMIM:617883
HP:0004097	Deviation of finger	8626	TP63	ORPHA:1896
HP:0004097	Deviation of finger	9419	CRIPT	OMIM:615789
HP:0004097	Deviation of finger	4247	MGAT2	OMIM:212066
HP:0004097	Deviation of finger	9343	EFTUD2	OMIM:610536
HP:0004097	Deviation of finger	58499	ZNF462	OMIM:618619
HP:0004097	Deviation of finger	10682	EBP	ORPHA:401973
HP:0004097	Deviation of finger	10682	EBP	OMIM:300960
HP:0004097	Deviation of finger	91949	COG7	OMIM:608779
HP:0004097	Deviation of finger	80347	COASY	OMIM:618266
HP:0004097	Deviation of finger	50515	CHST11	OMIM:618167
HP:0004097	Deviation of finger	54809	SAMD9	OMIM:617053
HP:0004097	Deviation of finger	285489	DOK7	OMIM:618389
HP:0004097	Deviation of finger	348180	CTU2	OMIM:618142
HP:0004097	Deviation of finger	1272	CNTN1	OMIM:612540
HP:0004097	Deviation of finger	7841	MOGS	OMIM:606056
HP:0004097	Deviation of finger	7841	MOGS	ORPHA:79330
HP:0004097	Deviation of finger	256297	PTF1A	OMIM:609069
HP:0004097	Deviation of finger	55593	OTUD5	OMIM:301056
HP:0004097	Deviation of finger	23299	BICD2	OMIM:618291
HP:0004097	Deviation of finger	129285	PPP1R21	OMIM:619383
HP:0004097	Deviation of finger	91754	NEK9	OMIM:617022
HP:0004097	Deviation of finger	8567	MADD	OMIM:619004
HP:0004097	Deviation of finger	5297	PI4KA	OMIM:616531
HP:0004097	Deviation of finger	5297	PI4KA	OMIM:619708
HP:0004097	Deviation of finger	1822	ATN1	OMIM:618494
HP:0004097	Deviation of finger	8985	PLOD3	OMIM:612394
HP:0004097	Deviation of finger	84162	BLTP1	OMIM:617822
HP:0004097	Deviation of finger	5591	PRKDC	OMIM:615966
HP:0004097	Deviation of finger	4654	MYOD1	OMIM:618975
HP:0004097	Deviation of finger	9772	TMEM94	OMIM:618316
HP:0004097	Deviation of finger	2122	MECOM	OMIM:616738
HP:0004097	Deviation of finger	26040	SETBP1	ORPHA:798
HP:0004097	Deviation of finger	2121	EVC	ORPHA:952
HP:0004097	Deviation of finger	132884	EVC2	ORPHA:952
HP:0004097	Deviation of finger	55249	YY1AP1	OMIM:602531
HP:0004097	Deviation of finger	10466	COG5	ORPHA:263487
HP:0004097	Deviation of finger	8092	ALX1	ORPHA:306542
HP:0004097	Deviation of finger	6885	MAP3K7	OMIM:617137
HP:0004097	Deviation of finger	150468	CKAP2L	OMIM:272440
HP:0004097	Deviation of finger	4750	NEK1	ORPHA:2751
HP:0004097	Deviation of finger	6925	TCF4	ORPHA:2896
HP:0004097	Deviation of finger	10210	TOPORS	ORPHA:2754
HP:0004097	Deviation of finger	9851	KIAA0753	ORPHA:2754
HP:0004097	Deviation of finger	26123	TCTN3	ORPHA:2754
HP:0004097	Deviation of finger	5147	PDE6D	ORPHA:2754
HP:0004097	Deviation of finger	51259	TMEM216	ORPHA:2754
HP:0004097	Deviation of finger	317662	FAM149B1	ORPHA:2754
HP:0004097	Deviation of finger	374654	KIF7	ORPHA:2754
HP:0004097	Deviation of finger	22827	PUF60	ORPHA:508488
HP:0004097	Deviation of finger	6910	TBX5	OMIM:142900
HP:0004097	Deviation of finger	84342	COG8	OMIM:611182
HP:0004097	Deviation of finger	2036	EPB41L1	OMIM:614257
HP:0004097	Deviation of finger	55784	MCTP2	ORPHA:1596
HP:0004097	Deviation of finger	1747	DLX3	ORPHA:3352
HP:0004097	Deviation of finger	4000	LMNA	ORPHA:79474
HP:0004097	Deviation of finger	10236	HNRNPR	OMIM:620073
HP:0004097	Deviation of finger	9742	IFT140	OMIM:266920
HP:0004097	Deviation of finger	55790	CSGALNACT1	OMIM:618870
HP:0004097	Deviation of finger	55027	HEATR3	OMIM:620072
HP:0004097	Deviation of finger	91461	PKDCC	OMIM:618821
HP:0004097	Deviation of finger	388015	RTL1	ORPHA:96334
HP:0004097	Deviation of finger	8788	DLK1	ORPHA:96334
HP:0004097	Deviation of finger	55384	MEG3	ORPHA:96334
HP:0004097	Deviation of finger	1301	COL11A1	OMIM:154780
HP:0004097	Deviation of finger	6638	SNRPN	ORPHA:177907
HP:0004097	Deviation of finger	3767	KCNJ11	ORPHA:79134
HP:0004097	Deviation of finger	79731	NARS2	ORPHA:79134
HP:0004097	Deviation of finger	6833	ABCC8	ORPHA:79134
HP:0004097	Deviation of finger	5293	PIK3CD	ORPHA:221139
HP:0004097	Deviation of finger	90417	KNSTRN	ORPHA:221139
HP:0010038	Short 2nd metacarpal	650	BMP2	ORPHA:93396
HP:0010038	Short 2nd metacarpal	8200	GDF5	ORPHA:93396
HP:0010038	Short 2nd metacarpal	658	BMPR1B	ORPHA:93396
HP:0006232	Expanded metacarpals with widened medullary cavities	64135	IFIH1	OMIM:182250
HP:0006233	Osteoarthritis of the distal interphalangeal joint	6399	TRAPPC2	ORPHA:93284
HP:0006233	Osteoarthritis of the distal interphalangeal joint	54829	ASPN	OMIM:607850
HP:0006234	Osteolysis involving tarsal bones	4313	MMP2	ORPHA:371428
HP:0006234	Osteolysis involving tarsal bones	4313	MMP2	OMIM:259600
HP:0006234	Osteolysis involving tarsal bones	4323	MMP14	ORPHA:371428
HP:0006234	Osteolysis involving tarsal bones	4323	MMP14	OMIM:277950
HP:0006234	Osteolysis involving tarsal bones	9935	MAFB	OMIM:166300
HP:0006236	Slender metacarpals	3549	IHH	OMIM:112500
HP:0006236	Slender metacarpals	3835	KIF22	ORPHA:93360
HP:0006236	Slender metacarpals	91179	SCARF2	OMIM:600920
HP:0006237	Prominent interphalangeal joints	1302	COL11A2	OMIM:215150
HP:0006237	Prominent interphalangeal joints	7703	PCGF2	OMIM:618371
HP:0006237	Prominent interphalangeal joints	6595	SMARCA2	OMIM:601358
HP:0006237	Prominent interphalangeal joints	57492	ARID1B	OMIM:135900
HP:0006237	Prominent interphalangeal joints	6597	SMARCA4	OMIM:614609
HP:0006239	Shortening of all middle phalanges of the toes	59341	TRPV4	ORPHA:85169
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	4613	MYCN	ORPHA:391641
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	51199	NIN	ORPHA:319675
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	51199	NIN	OMIM:614851
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	7474	WNT5A	OMIM:180700
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	1855	DVL1	OMIM:180700
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	22827	PUF60	ORPHA:508488
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	10847	SRCAP	OMIM:136140
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	860	RUNX2	OMIM:119600
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	860	RUNX2	OMIM:156510
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	2623	GATA1	OMIM:190685
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	2783	GNB2	OMIM:619503
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	5932	RBBP8	OMIM:251255
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	2697	GJA1	OMIM:186100
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	9742	IFT140	OMIM:266920
HP:0006243	Phalangeal dislocation	1277	COL1A1	ORPHA:287
HP:0006243	Phalangeal dislocation	1289	COL5A1	ORPHA:287
HP:0006243	Phalangeal dislocation	1290	COL5A2	ORPHA:287
HP:0006243	Phalangeal dislocation	126792	B3GALT6	ORPHA:536467
HP:0006243	Phalangeal dislocation	11285	B4GALT7	OMIM:130070
HP:0006243	Phalangeal dislocation	165	AEBP1	ORPHA:536532
HP:0006243	Phalangeal dislocation	124583	CANT1	OMIM:251450
HP:0006247	Enlarged interphalangeal joints	7994	KAT6A	OMIM:616268
HP:0006247	Enlarged interphalangeal joints	3239	HOXD13	OMIM:186300
HP:0006247	Enlarged interphalangeal joints	8838	CCN6	ORPHA:1159
HP:0006247	Enlarged interphalangeal joints	8838	CCN6	OMIM:208230
HP:0006247	Enlarged interphalangeal joints	83452	RAB33B	OMIM:615222
HP:0006247	Enlarged interphalangeal joints	4148	MATN3	OMIM:140600
HP:0006247	Enlarged interphalangeal joints	1280	COL2A1	OMIM:604864
HP:0006248	Limited wrist movement	57167	SALL4	OMIM:147750
HP:0006248	Limited wrist movement	79158	GNPTAB	ORPHA:576
HP:0006248	Limited wrist movement	4000	LMNA	ORPHA:740
HP:0006248	Limited wrist movement	10269	ZMPSTE24	ORPHA:740
HP:0006248	Limited wrist movement	6473	SHOX	ORPHA:240
HP:0006248	Limited wrist movement	6473	SHOX	OMIM:127300
HP:0006248	Limited wrist movement	54332	GDAP1	ORPHA:99948
HP:0006248	Limited wrist movement	6399	TRAPPC2	ORPHA:93284
HP:0006248	Limited wrist movement	2316	FLNA	ORPHA:1826
HP:0006248	Limited wrist movement	6885	MAP3K7	ORPHA:1826
HP:0006248	Limited wrist movement	80207	OPA3	ORPHA:67036
HP:0006248	Limited wrist movement	4054	LTBP3	OMIM:617809
HP:0006248	Limited wrist movement	8292	COLQ	ORPHA:98915
HP:0006248	Limited wrist movement	3913	LAMB2	ORPHA:98915
HP:0006248	Limited wrist movement	4625	MYH7	ORPHA:437572
HP:0006248	Limited wrist movement	63895	PIEZO2	OMIM:108145
HP:0006248	Limited wrist movement	10020	GNE	ORPHA:602
HP:0009244	Distal/middle symphalangism of 5th finger	7021	TFAP2B	OMIM:169100
HP:0006251	Limited wrist extension	8292	COLQ	ORPHA:98915
HP:0006251	Limited wrist extension	3913	LAMB2	ORPHA:98915
HP:0006251	Limited wrist extension	4625	MYH7	ORPHA:437572
HP:0006251	Limited wrist extension	63895	PIEZO2	OMIM:108145
HP:0006251	Limited wrist extension	10020	GNE	ORPHA:602
HP:0006252	Interphalangeal joint erosions	6583	SLC22A4	OMIM:180300
HP:0006252	Interphalangeal joint erosions	26191	PTPN22	OMIM:180300
HP:0006252	Interphalangeal joint erosions	4261	CIITA	OMIM:180300
HP:0006252	Interphalangeal joint erosions	51744	CD244	OMIM:180300
HP:0006252	Interphalangeal joint erosions	4795	NFKBIL1	OMIM:180300
HP:0006252	Interphalangeal joint erosions	3586	IL10	OMIM:180300
HP:0006252	Interphalangeal joint erosions	4313	MMP2	OMIM:259600
HP:0006253	Swelling of proximal interphalangeal joints	7227	TRPS1	OMIM:190350
HP:0006253	Swelling of proximal interphalangeal joints	3861	KRT14	ORPHA:69087
HP:0006254	Elevated circulating alpha-fetoprotein concentration	4868	NPHS1	ORPHA:839
HP:0006254	Elevated circulating alpha-fetoprotein concentration	5631	PRPS1	ORPHA:423479
HP:0006254	Elevated circulating alpha-fetoprotein concentration	54903	MKS1	OMIM:249000
HP:0006254	Elevated circulating alpha-fetoprotein concentration	5339	PLEC	OMIM:226730
HP:0006254	Elevated circulating alpha-fetoprotein concentration	3691	ITGB4	OMIM:226730
HP:0006254	Elevated circulating alpha-fetoprotein concentration	4952	OCRL	OMIM:309000
HP:0006254	Elevated circulating alpha-fetoprotein concentration	55768	NGLY1	OMIM:615273
HP:0006254	Elevated circulating alpha-fetoprotein concentration	5311	PKD2	OMIM:613095
HP:0006254	Elevated circulating alpha-fetoprotein concentration	11284	PNKP	OMIM:616267
HP:0006254	Elevated circulating alpha-fetoprotein concentration	174	AFP	OMIM:615970
HP:0006254	Elevated circulating alpha-fetoprotein concentration	54914	FOCAD	OMIM:619991
HP:0006254	Elevated circulating alpha-fetoprotein concentration	23533	PIK3R5	ORPHA:64753
HP:0006254	Elevated circulating alpha-fetoprotein concentration	23533	PIK3R5	OMIM:615217
HP:0006254	Elevated circulating alpha-fetoprotein concentration	23064	SETX	ORPHA:64753
HP:0006254	Elevated circulating alpha-fetoprotein concentration	23064	SETX	OMIM:606002
HP:0006254	Elevated circulating alpha-fetoprotein concentration	2184	FAH	OMIM:276700
HP:0006254	Elevated circulating alpha-fetoprotein concentration	5190	PEX6	ORPHA:95433
HP:0006254	Elevated circulating alpha-fetoprotein concentration	124454	EARS2	OMIM:614924
HP:0006254	Elevated circulating alpha-fetoprotein concentration	1716	DGUOK	OMIM:251880
HP:0006254	Elevated circulating alpha-fetoprotein concentration	4233	MET	ORPHA:33402
HP:0006254	Elevated circulating alpha-fetoprotein concentration	1499	CTNNB1	ORPHA:33402
HP:0006254	Elevated circulating alpha-fetoprotein concentration	26137	ZBTB20	OMIM:259050
HP:0006254	Elevated circulating alpha-fetoprotein concentration	23556	PIGN	ORPHA:280633
HP:0006254	Elevated circulating alpha-fetoprotein concentration	113220	KIF12	OMIM:619662
HP:0006254	Elevated circulating alpha-fetoprotein concentration	10459	MAD2L2	OMIM:617243
HP:0006254	Elevated circulating alpha-fetoprotein concentration	9971	NR1H4	OMIM:617049
HP:0006254	Elevated circulating alpha-fetoprotein concentration	472	ATM	OMIM:208900
HP:0006254	Elevated circulating alpha-fetoprotein concentration	10165	SLC25A13	ORPHA:247598
HP:0006254	Elevated circulating alpha-fetoprotein concentration	165918	RNF168	ORPHA:420741
HP:0006254	Elevated circulating alpha-fetoprotein concentration	2313	FLI1	ORPHA:370348
HP:0006254	Elevated circulating alpha-fetoprotein concentration	6794	STK11	OMIM:273300
HP:0006254	Elevated circulating alpha-fetoprotein concentration	8915	BCL10	OMIM:273300
HP:0006254	Elevated circulating alpha-fetoprotein concentration	3815	KIT	OMIM:273300
HP:0006254	Elevated circulating alpha-fetoprotein concentration	2261	FGFR3	OMIM:273300
HP:0006256	Abnormality of hand joint mobility	6197	RPS6KA3	OMIM:303600
HP:0006256	Abnormality of hand joint mobility	9791	PTDSS1	OMIM:151050
HP:0006256	Abnormality of hand joint mobility	2245	FGD1	OMIM:305400
HP:0006256	Abnormality of hand joint mobility	9759	HDAC4	OMIM:619797
HP:0006256	Abnormality of hand joint mobility	3756	KCNH1	OMIM:135500
HP:0006256	Abnormality of hand joint mobility	57479	PRR12	OMIM:619539
HP:0006256	Abnormality of hand joint mobility	6611	SMS	OMIM:309583
HP:0006256	Abnormality of hand joint mobility	673	BRAF	OMIM:115150
HP:0006256	Abnormality of hand joint mobility	91461	PKDCC	OMIM:618821
HP:0006256	Abnormality of hand joint mobility	9968	MED12	OMIM:309520
HP:0006256	Abnormality of hand joint mobility	92344	GORAB	OMIM:231070
HP:0006256	Abnormality of hand joint mobility	54499	TMCO1	OMIM:213980
HP:0006256	Abnormality of hand joint mobility	387733	IFITM5	OMIM:610967
HP:0006256	Abnormality of hand joint mobility	51633	OTUD6B	ORPHA:505237
HP:0006256	Abnormality of hand joint mobility	23114	NFASC	OMIM:618356
HP:0006256	Abnormality of hand joint mobility	1289	COL5A1	OMIM:130000
HP:0006256	Abnormality of hand joint mobility	54872	PIGG	ORPHA:488635
HP:0006256	Abnormality of hand joint mobility	1278	COL1A2	OMIM:617821
HP:0006256	Abnormality of hand joint mobility	427	ASAH1	OMIM:228000
HP:0006256	Abnormality of hand joint mobility	9373	PLAA	ORPHA:521426
HP:0006256	Abnormality of hand joint mobility	2783	GNB2	OMIM:619503
HP:0006256	Abnormality of hand joint mobility	3265	HRAS	OMIM:218040
HP:0006256	Abnormality of hand joint mobility	2200	FBN1	OMIM:616914
HP:0006256	Abnormality of hand joint mobility	121340	SP7	OMIM:613849
HP:0006256	Abnormality of hand joint mobility	4010	LMX1B	ORPHA:2614
HP:0006256	Abnormality of hand joint mobility	1281	COL3A1	OMIM:130050
HP:0006256	Abnormality of hand joint mobility	7528	YY1	ORPHA:506358
HP:0006256	Abnormality of hand joint mobility	7528	YY1	OMIM:617557
HP:0006256	Abnormality of hand joint mobility	54681	P4HTM	OMIM:618493
HP:0006256	Abnormality of hand joint mobility	128674	PROKR2	OMIM:244200
HP:0006256	Abnormality of hand joint mobility	55790	CSGALNACT1	OMIM:618870
HP:0006256	Abnormality of hand joint mobility	22861	NLRP1	OMIM:615225
HP:0006256	Abnormality of hand joint mobility	867	CBL	OMIM:613563
HP:0006256	Abnormality of hand joint mobility	1311	COMP	ORPHA:93308
HP:0006256	Abnormality of hand joint mobility	25782	RAB3GAP2	OMIM:212720
HP:0006256	Abnormality of hand joint mobility	11342	RNF13	ORPHA:544503
HP:0006256	Abnormality of hand joint mobility	1277	COL1A1	OMIM:166200
HP:0006256	Abnormality of hand joint mobility	3373	HYAL1	OMIM:601492
HP:0006256	Abnormality of hand joint mobility	2318	FLNC	ORPHA:63273
HP:0006256	Abnormality of hand joint mobility	1291	COL6A1	OMIM:254090
HP:0006256	Abnormality of hand joint mobility	1291	COL6A1	ORPHA:75840
HP:0006256	Abnormality of hand joint mobility	1292	COL6A2	OMIM:254090
HP:0006256	Abnormality of hand joint mobility	1292	COL6A2	ORPHA:75840
HP:0006256	Abnormality of hand joint mobility	1293	COL6A3	OMIM:254090
HP:0006256	Abnormality of hand joint mobility	1293	COL6A3	ORPHA:75840
HP:0006256	Abnormality of hand joint mobility	1303	COL12A1	ORPHA:75840
HP:0006256	Abnormality of hand joint mobility	79158	GNPTAB	ORPHA:576
HP:0006256	Abnormality of hand joint mobility	9987	HNRNPDL	OMIM:609115
HP:0006256	Abnormality of hand joint mobility	3848	KRT1	ORPHA:530838
HP:0006256	Abnormality of hand joint mobility	8838	CCN6	ORPHA:1159
HP:0006257	Abnormality of carpal bone ossification	9361	LONP1	OMIM:600373
HP:0006257	Abnormality of carpal bone ossification	8720	MBTPS1	OMIM:618392
HP:0006257	Abnormality of carpal bone ossification	59341	TRPV4	OMIM:184252
HP:0006257	Abnormality of carpal bone ossification	3549	IHH	OMIM:607778
HP:0006257	Abnormality of carpal bone ossification	633	BGN	OMIM:300106
HP:0006257	Abnormality of carpal bone ossification	9321	TRIP11	OMIM:184260
HP:0006257	Abnormality of carpal bone ossification	23233	EXOC6B	OMIM:618395
HP:0006257	Abnormality of carpal bone ossification	2137	EXTL3	OMIM:617425
HP:0006257	Abnormality of carpal bone ossification	55325	UFSP2	OMIM:617974
HP:0006257	Abnormality of carpal bone ossification	6023	RMRP	OMIM:607095
HP:0006257	Abnormality of carpal bone ossification	3209	HOXA13	OMIM:140000
HP:0006257	Abnormality of carpal bone ossification	1280	COL2A1	ORPHA:93346
HP:0006257	Abnormality of carpal bone ossification	865	CBFB	OMIM:620099
HP:0006257	Abnormality of carpal bone ossification	4796	TONSL	OMIM:271510
HP:0006257	Abnormality of carpal bone ossification	4148	MATN3	OMIM:607078
HP:0006257	Abnormality of carpal bone ossification	55650	PIGV	OMIM:239300
HP:0006257	Abnormality of carpal bone ossification	84068	SLC10A7	OMIM:618363
HP:0006257	Abnormality of carpal bone ossification	29072	SETD2	OMIM:616831
HP:0006257	Abnormality of carpal bone ossification	5144	PDE4D	OMIM:614613
HP:0006257	Abnormality of carpal bone ossification	54187	NANS	OMIM:610442
HP:0006257	Abnormality of carpal bone ossification	64131	XYLT1	OMIM:615777
HP:0006257	Abnormality of carpal bone ossification	347734	SLC35B2	OMIM:620269
HP:0006257	Abnormality of carpal bone ossification	126792	B3GALT6	OMIM:615349
HP:0006257	Abnormality of carpal bone ossification	126792	B3GALT6	OMIM:271640
HP:0006257	Abnormality of carpal bone ossification	23169	SLC35D1	OMIM:269250
HP:0006257	Abnormality of carpal bone ossification	124583	CANT1	OMIM:617719
HP:0006257	Abnormality of carpal bone ossification	124583	CANT1	OMIM:251450
HP:0006257	Abnormality of carpal bone ossification	5745	PTH1R	OMIM:215045
HP:0006257	Abnormality of carpal bone ossification	23592	LEMD3	ORPHA:166119
HP:0006257	Abnormality of carpal bone ossification	10682	EBP	OMIM:302960
HP:0006257	Abnormality of carpal bone ossification	10568	SLC34A2	ORPHA:60025
HP:0006257	Abnormality of carpal bone ossification	9469	CHST3	OMIM:143095
HP:0006257	Abnormality of carpal bone ossification	2317	FLNB	OMIM:150250
HP:0006257	Abnormality of carpal bone ossification	2719	GPC3	OMIM:312870
HP:0006257	Abnormality of carpal bone ossification	2239	GPC4	OMIM:312870
HP:0006257	Abnormality of carpal bone ossification	4921	DDR2	OMIM:271665
HP:0006257	Abnormality of carpal bone ossification	5167	ENPP1	ORPHA:51608
HP:0006257	Abnormality of carpal bone ossification	368	ABCC6	ORPHA:51608
HP:0005918	Abnormal finger phalanx morphology	54806	AHI1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	54806	AHI1	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	200894	ARL13B	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	9731	CEP104	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	23247	KATNIP	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	219854	TMEM218	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	95681	CEP41	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	95681	CEP41	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	9786	KIAA0586	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	10464	PIBF1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	23116	TOGARAM1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	25776	CBY1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	403	ARL3	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	10682	EBP	ORPHA:401973
HP:0005918	Abnormal finger phalanx morphology	5626	PROP1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	89884	LHX4	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	8022	LHX3	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	5449	POU1F1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	8820	HESX1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	1947	EFNB1	ORPHA:1520
HP:0005918	Abnormal finger phalanx morphology	5290	PIK3CA	ORPHA:60040
HP:0005918	Abnormal finger phalanx morphology	10908	PNPLA6	ORPHA:2377
HP:0005918	Abnormal finger phalanx morphology	51	ACOX1	ORPHA:2971
HP:0005918	Abnormal finger phalanx morphology	2187	FANCB	OMIM:314390
HP:0005918	Abnormal finger phalanx morphology	7547	ZIC3	OMIM:314390
HP:0005918	Abnormal finger phalanx morphology	641	BLM	OMIM:210900
HP:0005918	Abnormal finger phalanx morphology	2314	FLII	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	23096	IQSEC2	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	10743	RAI1	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	10522	DEAF1	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	26154	ABCA12	ORPHA:457
HP:0005918	Abnormal finger phalanx morphology	8241	RBM10	ORPHA:2886
HP:0005918	Abnormal finger phalanx morphology	7021	TFAP2B	ORPHA:46627
HP:0005918	Abnormal finger phalanx morphology	1312	COMT	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	221037	JMJD1C	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	2812	GP1BB	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	6239	RREB1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	6899	TBX1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	7290	HIRA	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	9632	SEC24C	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	7353	UFD1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	421	ARVCF	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	51524	TMEM138	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	23090	ZNF423	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	10210	TOPORS	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	317662	FAM149B1	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	9897	WASHC5	ORPHA:7
HP:0005918	Abnormal finger phalanx morphology	28952	CCDC22	ORPHA:7
HP:0005918	Abnormal finger phalanx morphology	5566	PRKACA	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	25970	SH2B1	ORPHA:261197
HP:0005918	Abnormal finger phalanx morphology	5728	PTEN	ORPHA:65285
HP:0005918	Abnormal finger phalanx morphology	6469	SHH	ORPHA:93405
HP:0005918	Abnormal finger phalanx morphology	55636	CHD7	OMIM:214800
HP:0005918	Abnormal finger phalanx morphology	2313	FLI1	ORPHA:2308
HP:0005918	Abnormal finger phalanx morphology	6309	SC5D	ORPHA:46059
HP:0005918	Abnormal finger phalanx morphology	6309	SC5D	OMIM:607330
HP:0005918	Abnormal finger phalanx morphology	894	CCND2	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	894	CCND2	OMIM:615938
HP:0005918	Abnormal finger phalanx morphology	5296	PIK3R2	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	10000	AKT3	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	10000	AKT3	OMIM:615937
HP:0005918	Abnormal finger phalanx morphology	26160	IFT172	OMIM:615630
HP:0005918	Abnormal finger phalanx morphology	26160	IFT172	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	26160	IFT172	OMIM:619471
HP:0005918	Abnormal finger phalanx morphology	26160	IFT172	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	54585	LZTFL1	OMIM:615994
HP:0005918	Abnormal finger phalanx morphology	54585	LZTFL1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	8195	MKKS	OMIM:236700
HP:0005918	Abnormal finger phalanx morphology	8195	MKKS	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	8195	MKKS	ORPHA:2473
HP:0005918	Abnormal finger phalanx morphology	56623	INPP5E	OMIM:213300
HP:0005918	Abnormal finger phalanx morphology	56623	INPP5E	ORPHA:1454
HP:0005918	Abnormal finger phalanx morphology	55593	OTUD5	OMIM:301056
HP:0005918	Abnormal finger phalanx morphology	83479	DDX59	OMIM:174300
HP:0005918	Abnormal finger phalanx morphology	83479	DDX59	ORPHA:2919
HP:0005918	Abnormal finger phalanx morphology	1717	DHCR7	ORPHA:818
HP:0005918	Abnormal finger phalanx morphology	1717	DHCR7	OMIM:270400
HP:0005918	Abnormal finger phalanx morphology	10225	CD96	OMIM:211750
HP:0005918	Abnormal finger phalanx morphology	6926	TBX3	ORPHA:3138
HP:0005918	Abnormal finger phalanx morphology	6926	TBX3	OMIM:181450
HP:0005918	Abnormal finger phalanx morphology	7476	WNT7A	OMIM:228930
HP:0005918	Abnormal finger phalanx morphology	84100	ARL6	OMIM:209900
HP:0005918	Abnormal finger phalanx morphology	84100	ARL6	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	79140	CCDC28B	OMIM:209900
HP:0005918	Abnormal finger phalanx morphology	582	BBS1	OMIM:209900
HP:0005918	Abnormal finger phalanx morphology	582	BBS1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	51057	WDPCP	OMIM:217085
HP:0005918	Abnormal finger phalanx morphology	51057	WDPCP	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	3209	HOXA13	ORPHA:2438
HP:0005918	Abnormal finger phalanx morphology	3209	HOXA13	OMIM:176305
HP:0005918	Abnormal finger phalanx morphology	64093	SMOC1	ORPHA:1106
HP:0005918	Abnormal finger phalanx morphology	64093	SMOC1	OMIM:206920
HP:0005918	Abnormal finger phalanx morphology	285600	KIAA0825	OMIM:618498
HP:0005918	Abnormal finger phalanx morphology	8200	GDF5	OMIM:113100
HP:0005918	Abnormal finger phalanx morphology	8200	GDF5	OMIM:200700
HP:0005918	Abnormal finger phalanx morphology	8200	GDF5	ORPHA:2098
HP:0005918	Abnormal finger phalanx morphology	5147	PDE6D	OMIM:615665
HP:0005918	Abnormal finger phalanx morphology	51715	RAB23	ORPHA:65759
HP:0005918	Abnormal finger phalanx morphology	51715	RAB23	OMIM:201000
HP:0005918	Abnormal finger phalanx morphology	1954	MEGF8	ORPHA:65759
HP:0005918	Abnormal finger phalanx morphology	26005	C2CD3	OMIM:615948
HP:0005918	Abnormal finger phalanx morphology	26005	C2CD3	ORPHA:434179
HP:0005918	Abnormal finger phalanx morphology	26040	SETBP1	OMIM:269150
HP:0005918	Abnormal finger phalanx morphology	2121	EVC	ORPHA:952
HP:0005918	Abnormal finger phalanx morphology	2121	EVC	OMIM:193530
HP:0005918	Abnormal finger phalanx morphology	2121	EVC	OMIM:225500
HP:0005918	Abnormal finger phalanx morphology	132884	EVC2	ORPHA:952
HP:0005918	Abnormal finger phalanx morphology	132884	EVC2	OMIM:193530
HP:0005918	Abnormal finger phalanx morphology	132884	EVC2	OMIM:225500
HP:0005918	Abnormal finger phalanx morphology	153241	CEP120	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	51626	DYNC2LI1	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	51626	DYNC2LI1	OMIM:617088
HP:0005918	Abnormal finger phalanx morphology	9742	IFT140	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	9742	IFT140	OMIM:266920
HP:0005918	Abnormal finger phalanx morphology	57728	WDR19	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	79809	TTC21B	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	64840	PORCN	OMIM:305600
HP:0005918	Abnormal finger phalanx morphology	92482	BBIP1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	11020	IFT27	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	49855	SCAPER	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	4867	NPHP1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	27241	BBS9	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	27241	BBS9	OMIM:615986
HP:0005918	Abnormal finger phalanx morphology	84984	CEP19	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	22954	TRIM32	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	79738	BBS10	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	123016	TTC8	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	583	BBS2	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	583	BBS2	OMIM:615981
HP:0005918	Abnormal finger phalanx morphology	585	BBS4	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	55212	BBS7	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	166379	BBS12	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	166379	BBS12	OMIM:615989
HP:0005918	Abnormal finger phalanx morphology	10806	SDCCAG8	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	157657	CFAP418	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	157657	CFAP418	OMIM:617406
HP:0005918	Abnormal finger phalanx morphology	129880	BBS5	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	80173	IFT74	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	79005	SCNM1	OMIM:620107
HP:0005918	Abnormal finger phalanx morphology	658	BMPR1B	ORPHA:2098
HP:0005918	Abnormal finger phalanx morphology	54499	TMCO1	OMIM:213980
HP:0005918	Abnormal finger phalanx morphology	2736	GLI2	OMIM:610829
HP:0005918	Abnormal finger phalanx morphology	51360	MBTPS2	OMIM:308205
HP:0005918	Abnormal finger phalanx morphology	51360	MBTPS2	ORPHA:85284
HP:0005918	Abnormal finger phalanx morphology	80210	ARMC9	OMIM:617622
HP:0005918	Abnormal finger phalanx morphology	9373	PLAA	ORPHA:521426
HP:0005918	Abnormal finger phalanx morphology	2316	FLNA	OMIM:304120
HP:0005918	Abnormal finger phalanx morphology	3930	LBR	OMIM:215140
HP:0005918	Abnormal finger phalanx morphology	2239	GPC4	ORPHA:373
HP:0005918	Abnormal finger phalanx morphology	2239	GPC4	OMIM:312870
HP:0005918	Abnormal finger phalanx morphology	2719	GPC3	ORPHA:373
HP:0005918	Abnormal finger phalanx morphology	2719	GPC3	OMIM:312870
HP:0005918	Abnormal finger phalanx morphology	51684	SUFU	OMIM:617757
HP:0005918	Abnormal finger phalanx morphology	257	ALX3	OMIM:136760
HP:0005918	Abnormal finger phalanx morphology	23288	IQCE	OMIM:617642
HP:0005918	Abnormal finger phalanx morphology	5567	PRKACB	OMIM:619143
HP:0005918	Abnormal finger phalanx morphology	137392	CIBAR1	OMIM:618219
HP:0005918	Abnormal finger phalanx morphology	7700	ZNF141	OMIM:615226
HP:0005918	Abnormal finger phalanx morphology	9851	KIAA0753	OMIM:617127
HP:0005918	Abnormal finger phalanx morphology	7046	TGFBR1	OMIM:609192
HP:0005918	Abnormal finger phalanx morphology	255758	DYNLT2B	OMIM:617405
HP:0005918	Abnormal finger phalanx morphology	57167	SALL4	ORPHA:233
HP:0005918	Abnormal finger phalanx morphology	57167	SALL4	ORPHA:959
HP:0005918	Abnormal finger phalanx morphology	57167	SALL4	ORPHA:2307
HP:0005918	Abnormal finger phalanx morphology	9935	MAFB	ORPHA:233
HP:0005918	Abnormal finger phalanx morphology	1123	CHN1	ORPHA:233
HP:0005918	Abnormal finger phalanx morphology	2137	EXTL3	ORPHA:508533
HP:0005918	Abnormal finger phalanx morphology	22827	PUF60	ORPHA:508498
HP:0005918	Abnormal finger phalanx morphology	65250	CPLANE1	OMIM:277170
HP:0005918	Abnormal finger phalanx morphology	6608	SMO	OMIM:601707
HP:0005918	Abnormal finger phalanx morphology	6608	SMO	ORPHA:1553
HP:0005918	Abnormal finger phalanx morphology	4750	NEK1	OMIM:263520
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	OMIM:175700
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	ORPHA:380
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	OMIM:174200
HP:0005918	Abnormal finger phalanx morphology	64327	LMBR1	ORPHA:2378
HP:0005918	Abnormal finger phalanx morphology	64327	LMBR1	OMIM:174500
HP:0005918	Abnormal finger phalanx morphology	55027	HEATR3	OMIM:620072
HP:0005918	Abnormal finger phalanx morphology	6299	SALL1	OMIM:107480
HP:0005918	Abnormal finger phalanx morphology	6299	SALL1	ORPHA:857
HP:0005918	Abnormal finger phalanx morphology	55112	DYNC2I1	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	57560	IFT80	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	57539	WDR35	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	79659	DYNC2H1	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	89891	DYNC2I2	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	374879	ZNF699	OMIM:619488
HP:0005918	Abnormal finger phalanx morphology	374654	KIF7	OMIM:200990
HP:0005918	Abnormal finger phalanx morphology	8318	CDC45	OMIM:617063
HP:0005918	Abnormal finger phalanx morphology	51339	DACT1	ORPHA:857
HP:0005918	Abnormal finger phalanx morphology	2177	FANCD2	OMIM:227646
HP:0005918	Abnormal finger phalanx morphology	727857	BHLHA9	ORPHA:3329
HP:0005918	Abnormal finger phalanx morphology	23133	PHF8	ORPHA:85287
HP:0005918	Abnormal finger phalanx morphology	8481	OFD1	ORPHA:2750
HP:0005918	Abnormal finger phalanx morphology	219844	HYLS1	OMIM:236680
HP:0005918	Abnormal finger phalanx morphology	26123	TCTN3	ORPHA:2753
HP:0005918	Abnormal finger phalanx morphology	26123	TCTN3	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	2697	GJA1	ORPHA:2710
HP:0005918	Abnormal finger phalanx morphology	3239	HOXD13	ORPHA:887
HP:0005918	Abnormal finger phalanx morphology	7020	TFAP2A	OMIM:113620
HP:0005918	Abnormal finger phalanx morphology	7020	TFAP2A	ORPHA:1297
HP:0005918	Abnormal finger phalanx morphology	84314	TMEM107	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79867	TCTN2	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	80776	B9D2	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79600	TCTN1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	57096	RPGRIP1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79848	CSPP1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	80184	CEP290	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	51259	TMEM216	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	57545	CC2D2A	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79583	TMEM231	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	91147	TMEM67	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79770	TXNDC15	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	27077	B9D1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	23322	RPGRIP1L	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	54903	MKS1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	65062	TMEM237	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	10815	CPLX1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	10815	CPLX1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	54872	PIGG	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	7469	NELFA	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	1487	CTBP1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	1487	CTBP1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	3954	LETM1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	3954	LETM1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	7468	NSD2	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	7468	NSD2	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	2735	GLI1	OMIM:174400
HP:0005918	Abnormal finger phalanx morphology	53834	FGFRL1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	9343	EFTUD2	OMIM:610536
HP:0005918	Abnormal finger phalanx morphology	9343	EFTUD2	ORPHA:79113
HP:0005918	Abnormal finger phalanx morphology	2263	FGFR2	OMIM:101200
HP:0005918	Abnormal finger phalanx morphology	91179	SCARF2	OMIM:600920
HP:0005918	Abnormal finger phalanx morphology	650	BMP2	OMIM:112600
HP:0005918	Abnormal finger phalanx morphology	650	BMP2	ORPHA:93396
HP:0005918	Abnormal finger phalanx morphology	4613	MYCN	ORPHA:391641
HP:0005918	Abnormal finger phalanx morphology	3481	IGF2	OMIM:180860
HP:0005918	Abnormal finger phalanx morphology	51199	NIN	ORPHA:319675
HP:0005918	Abnormal finger phalanx morphology	51199	NIN	OMIM:614851
HP:0005918	Abnormal finger phalanx morphology	7474	WNT5A	OMIM:180700
HP:0005918	Abnormal finger phalanx morphology	10847	SRCAP	OMIM:136140
HP:0005918	Abnormal finger phalanx morphology	860	RUNX2	OMIM:119600
HP:0005918	Abnormal finger phalanx morphology	860	RUNX2	OMIM:156510
HP:0005918	Abnormal finger phalanx morphology	2783	GNB2	OMIM:619503
HP:0005918	Abnormal finger phalanx morphology	5932	RBBP8	OMIM:251255
HP:0005918	Abnormal finger phalanx morphology	10236	HNRNPR	OMIM:620073
HP:0005918	Abnormal finger phalanx morphology	6598	SMARCB1	OMIM:614608
HP:0005918	Abnormal finger phalanx morphology	8838	CCN6	ORPHA:1159
HP:0005918	Abnormal finger phalanx morphology	4088	SMAD3	ORPHA:284984
HP:0005918	Abnormal finger phalanx morphology	4148	MATN3	ORPHA:93311
HP:0005918	Abnormal finger phalanx morphology	59341	TRPV4	ORPHA:85169
HP:0005918	Abnormal finger phalanx morphology	55628	ZNF407	OMIM:619557
HP:0005918	Abnormal finger phalanx morphology	23219	FBXO28	OMIM:619777
HP:0005918	Abnormal finger phalanx morphology	84265	POLR3GL	OMIM:619234
HP:0005918	Abnormal finger phalanx morphology	64324	NSD1	ORPHA:821
HP:0005918	Abnormal finger phalanx morphology	29072	SETD2	ORPHA:821
HP:0005918	Abnormal finger phalanx morphology	10297	APC2	ORPHA:821
HP:0005918	Abnormal finger phalanx morphology	4882	NPR2	OMIM:615923
HP:0005918	Abnormal finger phalanx morphology	1147	CHUK	OMIM:619339
HP:0005918	Abnormal finger phalanx morphology	55777	MBD5	OMIM:156200
HP:0005918	Abnormal finger phalanx morphology	5422	POLA1	OMIM:301030
HP:0005918	Abnormal finger phalanx morphology	652	BMP4	OMIM:607932
HP:0005918	Abnormal finger phalanx morphology	8085	KMT2D	ORPHA:2322
HP:0005918	Abnormal finger phalanx morphology	7403	KDM6A	ORPHA:2322
HP:0005918	Abnormal finger phalanx morphology	22995	CEP152	OMIM:613823
HP:0005918	Abnormal finger phalanx morphology	407975	MIR17HG	ORPHA:391646
HP:0005918	Abnormal finger phalanx morphology	51305	KCNK9	ORPHA:166108
HP:0005918	Abnormal finger phalanx morphology	1303	COL12A1	ORPHA:536516
HP:0005918	Abnormal finger phalanx morphology	22880	MORC2	ORPHA:466768
HP:0005918	Abnormal finger phalanx morphology	825	CAPN3	ORPHA:267
HP:0005918	Abnormal finger phalanx morphology	2201	FBN2	OMIM:121050
HP:0005918	Abnormal finger phalanx morphology	63895	PIEZO2	ORPHA:1154
HP:0005918	Abnormal finger phalanx morphology	63895	PIEZO2	OMIM:108145
HP:0005918	Abnormal finger phalanx morphology	10216	PRG4	OMIM:208250
HP:0005918	Abnormal finger phalanx morphology	113179	ADAT3	ORPHA:363528
HP:0005918	Abnormal finger phalanx morphology	7043	TGFB3	OMIM:615582
HP:0005918	Abnormal finger phalanx morphology	9401	RECQL4	OMIM:218600
HP:0005918	Abnormal finger phalanx morphology	54332	GDAP1	ORPHA:99948
HP:0005918	Abnormal finger phalanx morphology	2254	FGF9	OMIM:612961
HP:0005918	Abnormal finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0005918	Abnormal finger phalanx morphology	2260	FGFR1	OMIM:101600
HP:0005918	Abnormal finger phalanx morphology	84295	PHF6	OMIM:301900
HP:0005918	Abnormal finger phalanx morphology	9451	EIF2AK3	OMIM:226980
HP:0005918	Abnormal finger phalanx morphology	64135	IFIH1	OMIM:182250
HP:0005918	Abnormal finger phalanx morphology	84992	PIGY	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	84992	PIGY	OMIM:616809
HP:0005918	Abnormal finger phalanx morphology	84720	PIGO	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	84720	PIGO	OMIM:614749
HP:0005918	Abnormal finger phalanx morphology	93210	PGAP3	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	93210	PGAP3	OMIM:615716
HP:0005918	Abnormal finger phalanx morphology	284098	PIGW	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	27315	PGAP2	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	27315	PGAP2	OMIM:614207
HP:0005918	Abnormal finger phalanx morphology	55650	PIGV	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	9487	PIGL	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	57020	VPS35L	OMIM:619135
HP:0005918	Abnormal finger phalanx morphology	4256	MGP	OMIM:245150
HP:0005918	Abnormal finger phalanx morphology	2972	BRF1	OMIM:616202
HP:0005918	Abnormal finger phalanx morphology	29929	ALG6	ORPHA:79320
HP:0005918	Abnormal finger phalanx morphology	5447	POR	ORPHA:95699
HP:0005918	Abnormal finger phalanx morphology	3376	IARS1	ORPHA:541423
HP:0005918	Abnormal finger phalanx morphology	79068	FTO	OMIM:612938
HP:0005918	Abnormal finger phalanx morphology	51776	MAP3K20	OMIM:616890
HP:0005918	Abnormal finger phalanx morphology	79158	GNPTAB	OMIM:252600
HP:0005918	Abnormal finger phalanx morphology	7994	KAT6A	OMIM:616268
HP:0005918	Abnormal finger phalanx morphology	7466	WFS1	OMIM:222300
HP:0005918	Abnormal finger phalanx morphology	1075	CTSC	OMIM:245010
HP:0005918	Abnormal finger phalanx morphology	6399	TRAPPC2	ORPHA:93284
HP:0005918	Abnormal finger phalanx morphology	54829	ASPN	OMIM:607850
HP:0005918	Abnormal finger phalanx morphology	1302	COL11A2	OMIM:215150
HP:0005918	Abnormal finger phalanx morphology	7703	PCGF2	OMIM:618371
HP:0005918	Abnormal finger phalanx morphology	6595	SMARCA2	OMIM:601358
HP:0005918	Abnormal finger phalanx morphology	57492	ARID1B	OMIM:135900
HP:0005918	Abnormal finger phalanx morphology	6597	SMARCA4	OMIM:614609
HP:0005918	Abnormal finger phalanx morphology	1289	COL5A1	ORPHA:287
HP:0005918	Abnormal finger phalanx morphology	1290	COL5A2	ORPHA:287
HP:0005918	Abnormal finger phalanx morphology	11285	B4GALT7	OMIM:130070
HP:0005918	Abnormal finger phalanx morphology	165	AEBP1	ORPHA:536532
HP:0005918	Abnormal finger phalanx morphology	6583	SLC22A4	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	26191	PTPN22	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4261	CIITA	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	51744	CD244	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4795	NFKBIL1	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	3586	IL10	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4313	MMP2	OMIM:259600
HP:0005918	Abnormal finger phalanx morphology	3861	KRT14	ORPHA:69087
HP:0005918	Abnormal finger phalanx morphology	1080	CFTR	ORPHA:498359
HP:0005918	Abnormal finger phalanx morphology	10765	KDM5B	OMIM:618109
HP:0005918	Abnormal finger phalanx morphology	10093	ARPC4	OMIM:620141
HP:0005918	Abnormal finger phalanx morphology	56992	KIF15	ORPHA:261323
HP:0005918	Abnormal finger phalanx morphology	11011	TLK2	OMIM:618050
HP:0005918	Abnormal finger phalanx morphology	6909	TBX2	OMIM:618223
HP:0005918	Abnormal finger phalanx morphology	80816	ASXL3	OMIM:615485
HP:0005918	Abnormal finger phalanx morphology	2122	MECOM	OMIM:616738
HP:0005918	Abnormal finger phalanx morphology	81857	MED25	ORPHA:464738
HP:0005918	Abnormal finger phalanx morphology	1277	COL1A1	OMIM:130060
HP:0005918	Abnormal finger phalanx morphology	6134	RPL10	OMIM:300998
HP:0005918	Abnormal finger phalanx morphology	23327	NEDD4L	OMIM:617201
HP:0005918	Abnormal finger phalanx morphology	8985	PLOD3	OMIM:612394
HP:0005918	Abnormal finger phalanx morphology	50814	NSDHL	OMIM:308050
HP:0005918	Abnormal finger phalanx morphology	22856	CHSY1	ORPHA:363417
HP:0005918	Abnormal finger phalanx morphology	55012	PPP2R3C	OMIM:618419
HP:0005918	Abnormal finger phalanx morphology	5053	PAH	ORPHA:2209
HP:0005918	Abnormal finger phalanx morphology	124583	CANT1	OMIM:251450
HP:0005918	Abnormal finger phalanx morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005918	Abnormal finger phalanx morphology	10084	PQBP1	OMIM:309500
HP:0005918	Abnormal finger phalanx morphology	4841	NONO	OMIM:300967
HP:0005918	Abnormal finger phalanx morphology	2778	GNAS	ORPHA:79445
HP:0005918	Abnormal finger phalanx morphology	5727	PTCH1	OMIM:109400
HP:0005918	Abnormal finger phalanx morphology	23019	CNOT1	ORPHA:556955
HP:0005918	Abnormal finger phalanx morphology	7204	TRIO	ORPHA:476126
HP:0005918	Abnormal finger phalanx morphology	3756	KCNH1	OMIM:611816
HP:0005918	Abnormal finger phalanx morphology	8626	TP63	OMIM:605289
HP:0005918	Abnormal finger phalanx morphology	80144	FRAS1	OMIM:219000
HP:0005918	Abnormal finger phalanx morphology	81794	ADAMTS10	OMIM:277600
HP:0005918	Abnormal finger phalanx morphology	1281	COL3A1	OMIM:130050
HP:0005918	Abnormal finger phalanx morphology	54463	RETREG1	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	54463	RETREG1	OMIM:613115
HP:0005918	Abnormal finger phalanx morphology	65125	WNK1	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	6335	SCN9A	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	547	KIF1A	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	23586	RIGI	OMIM:616298
HP:0005918	Abnormal finger phalanx morphology	25923	ATL3	OMIM:615632
HP:0005918	Abnormal finger phalanx morphology	427	ASAH1	OMIM:228000
HP:0005918	Abnormal finger phalanx morphology	4853	NOTCH2	OMIM:102500
HP:0005918	Abnormal finger phalanx morphology	3248	HPGD	OMIM:259100
HP:0005918	Abnormal finger phalanx morphology	4626	MYH8	ORPHA:3377
HP:0005918	Abnormal finger phalanx morphology	50515	CHST11	OMIM:618167
HP:0005918	Abnormal finger phalanx morphology	1311	COMP	ORPHA:750
HP:0005918	Abnormal finger phalanx morphology	1311	COMP	OMIM:177170
HP:0005918	Abnormal finger phalanx morphology	1311	COMP	OMIM:132400
HP:0005918	Abnormal finger phalanx morphology	9361	LONP1	OMIM:600373
HP:0005918	Abnormal finger phalanx morphology	4921	DDR2	OMIM:271665
HP:0005918	Abnormal finger phalanx morphology	54808	DYM	OMIM:607326
HP:0005918	Abnormal finger phalanx morphology	3590	IL11RA	OMIM:614188
HP:0005918	Abnormal finger phalanx morphology	5593	PRKG2	OMIM:619636
HP:0005918	Abnormal finger phalanx morphology	55733	HHAT	OMIM:600092
HP:0005918	Abnormal finger phalanx morphology	55733	HHAT	ORPHA:1422
HP:0005918	Abnormal finger phalanx morphology	1836	SLC26A2	ORPHA:56304
HP:0005918	Abnormal finger phalanx morphology	3636	INPPL1	OMIM:258480
HP:0005918	Abnormal finger phalanx morphology	285590	SH3PXD2B	OMIM:249420
HP:0005918	Abnormal finger phalanx morphology	9321	TRIP11	OMIM:184260
HP:0005918	Abnormal finger phalanx morphology	1857	DVL3	OMIM:616894
HP:0005918	Abnormal finger phalanx morphology	5130	PCYT1A	ORPHA:85167
HP:0005918	Abnormal finger phalanx morphology	51098	IFT52	OMIM:617102
HP:0005918	Abnormal finger phalanx morphology	5139	PDE3A	ORPHA:1276
HP:0005918	Abnormal finger phalanx morphology	5139	PDE3A	OMIM:112410
HP:0005918	Abnormal finger phalanx morphology	4297	KMT2A	OMIM:605130
HP:0005918	Abnormal finger phalanx morphology	3417	IDH1	ORPHA:99646
HP:0005918	Abnormal finger phalanx morphology	9759	HDAC4	OMIM:600430
HP:0005918	Abnormal finger phalanx morphology	4810	NHS	OMIM:302350
HP:0005918	Abnormal finger phalanx morphology	9469	CHST3	OMIM:143095
HP:0005918	Abnormal finger phalanx morphology	23522	KAT6B	OMIM:606170
HP:0005918	Abnormal finger phalanx morphology	64131	XYLT1	OMIM:615777
HP:0005918	Abnormal finger phalanx morphology	1788	DNMT3A	OMIM:618724
HP:0005918	Abnormal finger phalanx morphology	6885	MAP3K7	ORPHA:1826
HP:0005918	Abnormal finger phalanx morphology	3759	KCNJ2	OMIM:170390
HP:0005918	Abnormal finger phalanx morphology	9939	RBM8A	OMIM:274000
HP:0005918	Abnormal finger phalanx morphology	1807	DPYS	OMIM:222748
HP:0005918	Abnormal finger phalanx morphology	5745	PTH1R	ORPHA:79106
HP:0005918	Abnormal finger phalanx morphology	5573	PRKAR1A	ORPHA:280651
HP:0005918	Abnormal finger phalanx morphology	5573	PRKAR1A	OMIM:101800
HP:0005918	Abnormal finger phalanx morphology	5144	PDE4D	ORPHA:280651
HP:0005918	Abnormal finger phalanx morphology	5144	PDE4D	ORPHA:439822
HP:0005918	Abnormal finger phalanx morphology	5144	PDE4D	OMIM:614613
HP:0005918	Abnormal finger phalanx morphology	9509	ADAMTS2	OMIM:225410
HP:0005918	Abnormal finger phalanx morphology	375056	MIA3	OMIM:619269
HP:0005918	Abnormal finger phalanx morphology	3977	LIFR	OMIM:601559
HP:0005918	Abnormal finger phalanx morphology	9775	EIF4A3	OMIM:268305
HP:0005918	Abnormal finger phalanx morphology	54101	RIPK4	OMIM:263650
HP:0005918	Abnormal finger phalanx morphology	83452	RAB33B	OMIM:615222
HP:0005918	Abnormal finger phalanx morphology	91252	SLC39A13	OMIM:612350
HP:0005918	Abnormal finger phalanx morphology	2200	FBN1	OMIM:102370
HP:0005918	Abnormal finger phalanx morphology	2879	GPX4	OMIM:250220
HP:0005918	Abnormal finger phalanx morphology	64682	ANAPC1	ORPHA:221008
HP:0005918	Abnormal finger phalanx morphology	126792	B3GALT6	ORPHA:2725
HP:0005918	Abnormal finger phalanx morphology	22930	RAB3GAP1	ORPHA:1387
HP:0005918	Abnormal finger phalanx morphology	25782	RAB3GAP2	ORPHA:1387
HP:0005918	Abnormal finger phalanx morphology	9555	MACROH2A1	ORPHA:1275
HP:0005918	Abnormal finger phalanx morphology	5307	PITX1	ORPHA:1275
HP:0005918	Abnormal finger phalanx morphology	6023	RMRP	ORPHA:175
HP:0005918	Abnormal finger phalanx morphology	388015	RTL1	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	8788	DLK1	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	55384	MEG3	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	1387	CREBBP	ORPHA:353277
HP:0005918	Abnormal finger phalanx morphology	1387	CREBBP	ORPHA:353281
HP:0005918	Abnormal finger phalanx morphology	2033	EP300	ORPHA:353284
HP:0005918	Abnormal finger phalanx morphology	4920	ROR2	OMIM:113000
HP:0005918	Abnormal finger phalanx morphology	9949	AMMECR1	OMIM:300990
HP:0005918	Abnormal finger phalanx morphology	9653	HS2ST1	OMIM:619194
HP:0005918	Abnormal finger phalanx morphology	2317	FLNB	ORPHA:503
HP:0005918	Abnormal finger phalanx morphology	55209	SETD5	ORPHA:404440
HP:0005918	Abnormal finger phalanx morphology	55209	SETD5	OMIM:615761
HP:0005918	Abnormal finger phalanx morphology	57459	GATAD2B	ORPHA:363686
HP:0005918	Abnormal finger phalanx morphology	633	BGN	OMIM:300989
HP:0005918	Abnormal finger phalanx morphology	23404	EXOSC2	OMIM:617763
HP:0005918	Abnormal finger phalanx morphology	79971	WLS	OMIM:619648
HP:0005918	Abnormal finger phalanx morphology	4038	LRP4	ORPHA:3152
HP:0005918	Abnormal finger phalanx morphology	50964	SOST	ORPHA:3152
HP:0005918	Abnormal finger phalanx morphology	1513	CTSK	ORPHA:763
HP:0005918	Abnormal finger phalanx morphology	1513	CTSK	OMIM:265800
HP:0005918	Abnormal finger phalanx morphology	4000	LMNA	ORPHA:740
HP:0005918	Abnormal finger phalanx morphology	4000	LMNA	OMIM:248370
HP:0005918	Abnormal finger phalanx morphology	4000	LMNA	ORPHA:90153
HP:0005918	Abnormal finger phalanx morphology	10269	ZMPSTE24	ORPHA:740
HP:0005918	Abnormal finger phalanx morphology	10269	ZMPSTE24	OMIM:608612
HP:0005918	Abnormal finger phalanx morphology	10269	ZMPSTE24	OMIM:275210
HP:0005918	Abnormal finger phalanx morphology	10269	ZMPSTE24	ORPHA:90154
HP:0005918	Abnormal finger phalanx morphology	8815	BANF1	OMIM:614008
HP:0005918	Abnormal finger phalanx morphology	10651	MTX2	ORPHA:90153
HP:0005918	Abnormal finger phalanx morphology	5159	PDGFRB	OMIM:601812
HP:0005918	Abnormal finger phalanx morphology	9896	FIG4	OMIM:216340
HP:0005918	Abnormal finger phalanx morphology	3549	IHH	OMIM:112500
HP:0005918	Abnormal finger phalanx morphology	9791	PTDSS1	OMIM:151050
HP:0005918	Abnormal finger phalanx morphology	9241	NOG	OMIM:611377
HP:0005918	Abnormal finger phalanx morphology	9241	NOG	OMIM:185800
HP:0005918	Abnormal finger phalanx morphology	25871	NEPRO	OMIM:618853
HP:0005918	Abnormal finger phalanx morphology	5293	PIK3CD	ORPHA:221139
HP:0005918	Abnormal finger phalanx morphology	90417	KNSTRN	ORPHA:221139
HP:0005918	Abnormal finger phalanx morphology	4784	NFIX	OMIM:602535
HP:0005918	Abnormal finger phalanx morphology	1300	COL10A1	ORPHA:174
HP:0005918	Abnormal finger phalanx morphology	6792	CDKL5	ORPHA:505652
HP:0005918	Abnormal finger phalanx morphology	26229	B3GAT3	OMIM:245600
HP:0005918	Abnormal finger phalanx morphology	55764	IFT122	OMIM:218330
HP:0005918	Abnormal finger phalanx morphology	55697	VAC14	ORPHA:3472
HP:0005918	Abnormal finger phalanx morphology	9488	PIGB	OMIM:618580
HP:0005918	Abnormal finger phalanx morphology	10617	STAMBP	OMIM:614261
HP:0005918	Abnormal finger phalanx morphology	2335	FN1	ORPHA:93315
HP:0005918	Abnormal finger phalanx morphology	23556	PIGN	ORPHA:2059
HP:0005918	Abnormal finger phalanx morphology	23556	PIGN	OMIM:614080
HP:0005918	Abnormal finger phalanx morphology	51412	ACTL6B	OMIM:618470
HP:0005918	Abnormal finger phalanx morphology	57465	TBC1D24	OMIM:220500
HP:0005918	Abnormal finger phalanx morphology	57465	TBC1D24	ORPHA:79500
HP:0005918	Abnormal finger phalanx morphology	55784	MCTP2	ORPHA:1596
HP:0005918	Abnormal finger phalanx morphology	5744	PTHLH	ORPHA:93387
HP:0005918	Abnormal finger phalanx morphology	3764	KCNJ8	ORPHA:1517
HP:0005918	Abnormal finger phalanx morphology	10060	ABCC9	ORPHA:1517
HP:0005918	Abnormal finger phalanx morphology	112752	IFT43	ORPHA:1515
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	ORPHA:2963
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	ORPHA:2095
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	OMIM:612289
HP:0005918	Abnormal finger phalanx morphology	24140	FTSJ1	OMIM:309549
HP:0005918	Abnormal finger phalanx morphology	54496	PRMT7	OMIM:617157
HP:0005918	Abnormal finger phalanx morphology	8289	ARID1A	OMIM:614607
HP:0005918	Abnormal finger phalanx morphology	2475	MTOR	OMIM:616638
HP:0005918	Abnormal finger phalanx morphology	5116	PCNT	OMIM:210720
HP:0005918	Abnormal finger phalanx morphology	9419	CRIPT	OMIM:615789
HP:0005918	Abnormal finger phalanx morphology	3782	KCNN3	OMIM:618658
HP:0005918	Abnormal finger phalanx morphology	54	ACP5	ORPHA:1855
HP:0005918	Abnormal finger phalanx morphology	6197	RPS6KA3	ORPHA:192
HP:0005918	Abnormal finger phalanx morphology	5281	PIGF	OMIM:619356
HP:0005918	Abnormal finger phalanx morphology	94005	PIGS	OMIM:618143
HP:0005918	Abnormal finger phalanx morphology	2677	GGCX	OMIM:277450
HP:0005918	Abnormal finger phalanx morphology	10283	CWC27	OMIM:250410
HP:0005918	Abnormal finger phalanx morphology	415	ARSL	ORPHA:79345
HP:0005918	Abnormal finger phalanx morphology	415	ARSL	OMIM:302950
HP:0005918	Abnormal finger phalanx morphology	526	ATP6V1B2	ORPHA:79500
HP:0005918	Abnormal finger phalanx morphology	25839	COG4	OMIM:618150
HP:0005918	Abnormal finger phalanx morphology	26137	ZBTB20	OMIM:259050
HP:0005918	Abnormal finger phalanx morphology	60401	EDA2R	ORPHA:181
HP:0005918	Abnormal finger phalanx morphology	1896	EDA	ORPHA:181
HP:0005918	Abnormal finger phalanx morphology	182	JAG1	OMIM:118450
HP:0005918	Abnormal finger phalanx morphology	6605	SMARCE1	OMIM:616938
HP:0005918	Abnormal finger phalanx morphology	3516	RBPJ	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	3516	RBPJ	OMIM:614814
HP:0005918	Abnormal finger phalanx morphology	4851	NOTCH1	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	57514	ARHGAP31	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	57572	DOCK6	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	285203	EOGT	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	54567	DLL4	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	1186	CLCN7	ORPHA:53
HP:0005918	Abnormal finger phalanx morphology	6664	SOX11	OMIM:615866
HP:0005918	Abnormal finger phalanx morphology	55081	IFT57	OMIM:617927
HP:0005918	Abnormal finger phalanx morphology	25886	POC1A	OMIM:614813
HP:0005918	Abnormal finger phalanx morphology	865	CBFB	OMIM:620099
HP:0005918	Abnormal finger phalanx morphology	1832	DSP	OMIM:609638
HP:0005918	Abnormal finger phalanx morphology	285175	UNC80	ORPHA:371364
HP:0005918	Abnormal finger phalanx morphology	6711	SPTBN1	OMIM:619475
HP:0005918	Abnormal finger phalanx morphology	2702	GJA5	OMIM:612474
HP:0005918	Abnormal finger phalanx morphology	2703	GJA8	OMIM:612474
HP:0005918	Abnormal finger phalanx morphology	29089	UBE2T	OMIM:616435
HP:0005918	Abnormal finger phalanx morphology	2261	FGFR3	OMIM:620192
HP:0005918	Abnormal finger phalanx morphology	2261	FGFR3	ORPHA:2363
HP:0005918	Abnormal finger phalanx morphology	2255	FGF10	ORPHA:2363
HP:0005918	Abnormal finger phalanx morphology	71	ACTG1	ORPHA:2995
HP:0005918	Abnormal finger phalanx morphology	60	ACTB	ORPHA:2995
HP:0005918	Abnormal finger phalanx morphology	2176	FANCC	OMIM:227645
HP:0005918	Abnormal finger phalanx morphology	2178	FANCE	OMIM:600901
HP:0005918	Abnormal finger phalanx morphology	157570	ESCO2	ORPHA:3103
HP:0005918	Abnormal finger phalanx morphology	6472	SHMT2	OMIM:619121
HP:0005918	Abnormal finger phalanx morphology	8260	NAA10	ORPHA:568
HP:0005918	Abnormal finger phalanx morphology	54880	BCOR	ORPHA:568
HP:0005918	Abnormal finger phalanx morphology	2175	FANCA	OMIM:227650
HP:0005918	Abnormal finger phalanx morphology	6910	TBX5	OMIM:142900
HP:0005918	Abnormal finger phalanx morphology	6135	RPL11	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6138	RPL15	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6229	RPS24	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6125	RPL5	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6204	RPS10	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6224	RPS20	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6165	RPL35A	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	2623	GATA1	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6223	RPS19	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6223	RPS19	OMIM:105650
HP:0005918	Abnormal finger phalanx morphology	6232	RPS27	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6231	RPS26	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	11224	RPL35	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6160	RPL31	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6218	RPS17	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6201	RPS7	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6155	RPL27	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6154	RPL26	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6210	RPS15A	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	90121	TSR2	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6141	RPL18	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6235	RPS29	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6234	RPS28	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	51816	ADA2	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	1855	DVL1	OMIM:616331
HP:0005918	Abnormal finger phalanx morphology	57122	NUP107	OMIM:616730
HP:0005918	Abnormal finger phalanx morphology	57122	NUP107	OMIM:618348
HP:0005918	Abnormal finger phalanx morphology	10992	SF3B2	OMIM:164210
HP:0005918	Abnormal finger phalanx morphology	27152	INTU	OMIM:617926
HP:0005918	Abnormal finger phalanx morphology	7291	TWIST1	OMIM:101400
HP:0005918	Abnormal finger phalanx morphology	23592	LEMD3	ORPHA:1879
HP:0005918	Abnormal finger phalanx morphology	23476	BRD4	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	9126	SMC3	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	8243	SMC1A	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	25836	NIPBL	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	55869	HDAC8	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	5885	RAD21	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	90	ACVR1	OMIM:135100
HP:0005918	Abnormal finger phalanx morphology	55215	FANCI	OMIM:609053
HP:0005918	Abnormal finger phalanx morphology	3911	LAMA5	OMIM:620076
HP:0005918	Abnormal finger phalanx morphology	7516	XRCC2	OMIM:617247
HP:0005918	Abnormal finger phalanx morphology	2131	EXT1	ORPHA:502
HP:0005918	Abnormal finger phalanx morphology	545	ATR	OMIM:210600
HP:0005918	Abnormal finger phalanx morphology	1161	ERCC8	OMIM:216400
HP:0005918	Abnormal finger phalanx morphology	4796	TONSL	ORPHA:93357
HP:0005918	Abnormal finger phalanx morphology	28957	MRPS28	OMIM:618958
HP:0005918	Abnormal finger phalanx morphology	4883	NPR3	OMIM:619543
HP:0005918	Abnormal finger phalanx morphology	23394	ADNP	ORPHA:404448
HP:0005918	Abnormal finger phalanx morphology	6477	SIAH1	OMIM:619314
HP:0005918	Abnormal finger phalanx morphology	10059	DNM1L	OMIM:614388
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:251028
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:251019
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:576283
HP:0005918	Abnormal finger phalanx morphology	3020	H3-3A	OMIM:619720
HP:0005918	Abnormal finger phalanx morphology	29998	BICRA	OMIM:619325
HP:0005918	Abnormal finger phalanx morphology	3021	H3-3B	OMIM:619721
HP:0005918	Abnormal finger phalanx morphology	8239	USP9X	OMIM:300919
HP:0005918	Abnormal finger phalanx morphology	176	ACAN	OMIM:612813
HP:0005918	Abnormal finger phalanx morphology	176	ACAN	ORPHA:171866
HP:0005918	Abnormal finger phalanx morphology	51132	RLIM	OMIM:300978
HP:0005918	Abnormal finger phalanx morphology	92579	G6PC3	OMIM:612541
HP:0005918	Abnormal finger phalanx morphology	29920	PYCR2	ORPHA:481152
HP:0005918	Abnormal finger phalanx morphology	2626	GATA4	ORPHA:251071
HP:0005918	Abnormal finger phalanx morphology	5718	PSMD12	ORPHA:529962
HP:0005918	Abnormal finger phalanx morphology	2186	BPTF	ORPHA:529962
HP:0005918	Abnormal finger phalanx morphology	4212	MEIS2	OMIM:600987
HP:0005918	Abnormal finger phalanx morphology	657	BMPR1A	ORPHA:79076
HP:0005918	Abnormal finger phalanx morphology	3981	LIG4	ORPHA:235
HP:0005918	Abnormal finger phalanx morphology	54888	NSUN2	ORPHA:235
HP:0005918	Abnormal finger phalanx morphology	23126	POGZ	OMIM:616364
HP:0005918	Abnormal finger phalanx morphology	51633	OTUD6B	OMIM:617452
HP:0005918	Abnormal finger phalanx morphology	51633	OTUD6B	ORPHA:505237
HP:0005918	Abnormal finger phalanx morphology	79753	SNIP1	OMIM:614501
HP:0005918	Abnormal finger phalanx morphology	80036	TRPM3	OMIM:620224
HP:0005918	Abnormal finger phalanx morphology	285362	SUMF1	OMIM:272200
HP:0005918	Abnormal finger phalanx morphology	285362	SUMF1	ORPHA:585
HP:0005918	Abnormal finger phalanx morphology	79759	ZNF668	OMIM:620194
HP:0005918	Abnormal finger phalanx morphology	284252	KCTD1	OMIM:181270
HP:0005918	Abnormal finger phalanx morphology	56098	PCDHGC4	OMIM:619880
HP:0005918	Abnormal finger phalanx morphology	4123	MAN2C1	OMIM:619775
HP:0005918	Abnormal finger phalanx morphology	4488	MSX2	ORPHA:60015
HP:0005918	Abnormal finger phalanx morphology	60529	ALX4	ORPHA:60015
HP:0005918	Abnormal finger phalanx morphology	79989	IFT56	OMIM:619534
HP:0005918	Abnormal finger phalanx morphology	5587	PRKD1	OMIM:617364
HP:0005918	Abnormal finger phalanx morphology	55690	PACS1	ORPHA:329224
HP:0005918	Abnormal finger phalanx morphology	22907	DHX30	OMIM:617804
HP:0005918	Abnormal finger phalanx morphology	6662	SOX9	OMIM:114290
HP:0005918	Abnormal finger phalanx morphology	1009	CDH11	OMIM:211380
HP:0005918	Abnormal finger phalanx morphology	7227	TRPS1	ORPHA:77258
HP:0005918	Abnormal finger phalanx morphology	3835	KIF22	OMIM:603546
HP:0005918	Abnormal finger phalanx morphology	2218	FKTN	ORPHA:272
HP:0005918	Abnormal finger phalanx morphology	4621	MYH3	ORPHA:2053
HP:0005918	Abnormal finger phalanx morphology	4621	MYH3	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	4621	MYH3	ORPHA:2990
HP:0005918	Abnormal finger phalanx morphology	259232	NALCN	ORPHA:2053
HP:0005918	Abnormal finger phalanx morphology	259232	NALCN	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	8294	H4C9	OMIM:619951
HP:0005918	Abnormal finger phalanx morphology	3094	HINT1	ORPHA:324442
HP:0005918	Abnormal finger phalanx morphology	7355	SLC35A2	ORPHA:356961
HP:0005918	Abnormal finger phalanx morphology	118429	ANTXR2	ORPHA:2176
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	ORPHA:1529
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	ORPHA:896
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	OMIM:148820
HP:0005918	Abnormal finger phalanx morphology	54968	TMEM70	ORPHA:1194
HP:0005918	Abnormal finger phalanx morphology	613	BCR	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	1399	CRKL	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	5594	MAPK1	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	84466	MEGF10	OMIM:614399
HP:0005918	Abnormal finger phalanx morphology	72	ACTG2	ORPHA:2604
HP:0005918	Abnormal finger phalanx morphology	3508	IGHMBP2	OMIM:604320
HP:0005918	Abnormal finger phalanx morphology	10381	TUBB3	OMIM:600638
HP:0005918	Abnormal finger phalanx morphology	3423	IDS	ORPHA:217085
HP:0005918	Abnormal finger phalanx morphology	3423	IDS	ORPHA:217093
HP:0005918	Abnormal finger phalanx morphology	64359	NXN	ORPHA:1507
HP:0005918	Abnormal finger phalanx morphology	64127	NOD2	OMIM:186580
HP:0005918	Abnormal finger phalanx morphology	64127	NOD2	ORPHA:90340
HP:0005918	Abnormal finger phalanx morphology	6999	TDO2	OMIM:600627
HP:0005918	Abnormal finger phalanx morphology	1301	COL11A1	ORPHA:2021
HP:0005918	Abnormal finger phalanx morphology	10716	TBR1	ORPHA:1617
HP:0005918	Abnormal finger phalanx morphology	3425	IDUA	OMIM:607015
HP:0005918	Abnormal finger phalanx morphology	3425	IDUA	ORPHA:93473
HP:0005918	Abnormal finger phalanx morphology	4593	MUSK	OMIM:208150
HP:0005918	Abnormal finger phalanx morphology	4593	MUSK	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	56006	SMG9	OMIM:616920
HP:0005918	Abnormal finger phalanx morphology	2535	FZD2	ORPHA:3107
HP:0005918	Abnormal finger phalanx morphology	9508	ADAMTS3	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	147372	CCBE1	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	79633	FAT4	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	5189	PEX1	ORPHA:3220
HP:0005918	Abnormal finger phalanx morphology	5190	PEX6	ORPHA:3220
HP:0005918	Abnormal finger phalanx morphology	5590	PRKCZ	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	2563	GABRD	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	23013	SPEN	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	8510	MMP23B	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	7798	LUZP1	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	6497	SKI	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	6497	SKI	ORPHA:2462
HP:0005918	Abnormal finger phalanx morphology	10630	PDPN	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	3339	HSPG2	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	10277	UBE4B	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	8514	KCNAB2	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	473	RERE	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	63976	PRDM16	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	54897	CASZ1	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	9719	ADAMTSL2	OMIM:231050
HP:0005918	Abnormal finger phalanx morphology	4952	OCRL	OMIM:309000
HP:0005918	Abnormal finger phalanx morphology	8517	IKBKG	ORPHA:464
HP:0005918	Abnormal finger phalanx morphology	10436	EMG1	ORPHA:1270
HP:0005918	Abnormal finger phalanx morphology	11128	POLR3A	ORPHA:3455
HP:0005918	Abnormal finger phalanx morphology	55612	FERMT1	ORPHA:2908
HP:0005918	Abnormal finger phalanx morphology	23483	TGDS	ORPHA:1388
HP:0005918	Abnormal finger phalanx morphology	7140	TNNT3	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7169	TPM2	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7136	TNNI2	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7136	TNNI2	OMIM:601680
HP:0005918	Abnormal finger phalanx morphology	4604	MYBPC1	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	117581	TWIST2	ORPHA:920
HP:0005918	Abnormal finger phalanx morphology	8726	EED	ORPHA:3447
HP:0005918	Abnormal finger phalanx morphology	23512	SUZ12	ORPHA:3447
HP:0005918	Abnormal finger phalanx morphology	2146	EZH2	ORPHA:3447
HP:0005918	Abnormal finger phalanx morphology	1723	DHODH	ORPHA:246
HP:0005918	Abnormal finger phalanx morphology	10526	IPO8	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	7048	TGFBR2	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	3897	L1CAM	ORPHA:2466
HP:0005918	Abnormal finger phalanx morphology	2245	FGD1	ORPHA:915
HP:0005918	Abnormal finger phalanx morphology	27238	GPKOW	ORPHA:2570
HP:0005918	Abnormal finger phalanx morphology	10466	COG5	ORPHA:263487
HP:0005918	Abnormal finger phalanx morphology	55315	SLC29A3	OMIM:602782
HP:0005918	Abnormal finger phalanx morphology	23102	TBC1D2B	OMIM:619323
HP:0005918	Abnormal finger phalanx morphology	2068	ERCC2	OMIM:610756
HP:0005918	Abnormal finger phalanx morphology	2068	ERCC2	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	51114	ZDHHC9	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	65109	UPF3B	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	9968	MED12	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	2067	ERCC1	OMIM:610758
HP:0005918	Abnormal finger phalanx morphology	2067	ERCC1	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	114548	NLRP3	ORPHA:575
HP:0005918	Abnormal finger phalanx morphology	2074	ERCC6	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	2073	ERCC5	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	134701	RIPPLY2	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	10683	DLL3	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	3955	LFNG	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	84667	HES7	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	145873	MESP2	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	81620	CDT1	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	5000	ORC4	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	23594	ORC6	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	990	CDC6	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	4998	ORC1	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	51053	GMNN	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	4927	NUP88	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	7846	TUBA1A	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	4654	MYOD1	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	5913	RAPSN	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	6572	SLC18A3	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	285489	DOK7	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	3914	LAMB3	OMIM:226650
HP:0005918	Abnormal finger phalanx morphology	9150	CTDP1	ORPHA:48431
HP:0005918	Abnormal finger phalanx morphology	8092	ALX1	ORPHA:306542
HP:0005918	Abnormal finger phalanx morphology	29895	MYL11	OMIM:619110
HP:0005918	Abnormal finger phalanx morphology	23443	SLC35A3	OMIM:615553
HP:0005918	Abnormal finger phalanx morphology	25914	RTTN	ORPHA:468631
HP:0005918	Abnormal finger phalanx morphology	8450	CUL4B	ORPHA:85293
HP:0005918	Abnormal finger phalanx morphology	1291	COL6A1	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1291	COL6A1	OMIM:158810
HP:0005918	Abnormal finger phalanx morphology	1292	COL6A2	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1292	COL6A2	OMIM:158810
HP:0005918	Abnormal finger phalanx morphology	1293	COL6A3	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1293	COL6A3	OMIM:158810
HP:0005918	Abnormal finger phalanx morphology	26092	TOR1AIP1	OMIM:617072
HP:0005918	Abnormal finger phalanx morphology	8242	KDM5C	ORPHA:85279
HP:0005918	Abnormal finger phalanx morphology	1146	CHRNG	ORPHA:2990
HP:0005918	Abnormal finger phalanx morphology	55790	CSGALNACT1	ORPHA:1425
HP:0005918	Abnormal finger phalanx morphology	23529	CLCF1	ORPHA:1545
HP:0005918	Abnormal finger phalanx morphology	9244	CRLF1	ORPHA:1545
HP:0005918	Abnormal finger phalanx morphology	51002	TPRKB	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	84942	WDR73	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	55644	OSGEP	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	10785	WDR4	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	55746	NUP133	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	112858	TP53RK	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	8270	LAGE3	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	5696	PSMB8	OMIM:256040
HP:0005918	Abnormal finger phalanx morphology	56916	SMARCAD1	ORPHA:1658
HP:0005918	Abnormal finger phalanx morphology	55768	NGLY1	ORPHA:404454
HP:0032101	Unusual infection	23394	ADNP	ORPHA:404448
HP:0032101	Unusual infection	23394	ADNP	OMIM:615873
HP:0032101	Unusual infection	9860	LRIG2	OMIM:615112
HP:0032101	Unusual infection	9860	LRIG2	ORPHA:2704
HP:0032101	Unusual infection	1859	DYRK1A	ORPHA:268261
HP:0032101	Unusual infection	1131	CHRM3	ORPHA:2970
HP:0032101	Unusual infection	113235	SLC46A1	ORPHA:90045
HP:0032101	Unusual infection	4125	MAN2B1	ORPHA:309282
HP:0032101	Unusual infection	11136	SLC7A9	OMIM:220100
HP:0032101	Unusual infection	6519	SLC3A1	OMIM:220100
HP:0032101	Unusual infection	1387	CREBBP	ORPHA:353281
HP:0032101	Unusual infection	1387	CREBBP	ORPHA:353277
HP:0032101	Unusual infection	9578	CDC42BPB	OMIM:619841
HP:0032101	Unusual infection	613	BCR	ORPHA:261330
HP:0032101	Unusual infection	1399	CRKL	ORPHA:261330
HP:0032101	Unusual infection	5594	MAPK1	ORPHA:261330
HP:0032101	Unusual infection	3313	HSPA9	OMIM:616854
HP:0032101	Unusual infection	10686	CLDN16	OMIM:248250
HP:0032101	Unusual infection	2033	EP300	ORPHA:353284
HP:0032101	Unusual infection	6595	SMARCA2	OMIM:619293
HP:0032101	Unusual infection	51726	DNAJB11	ORPHA:730
HP:0032101	Unusual infection	23193	GANAB	ORPHA:730
HP:0032101	Unusual infection	5310	PKD1	ORPHA:730
HP:0032101	Unusual infection	5311	PKD2	ORPHA:730
HP:0032101	Unusual infection	5311	PKD2	OMIM:613095
HP:0032101	Unusual infection	29880	ALG5	ORPHA:730
HP:0032101	Unusual infection	9742	IFT140	ORPHA:730
HP:0032101	Unusual infection	79796	ALG9	ORPHA:730
HP:0032101	Unusual infection	80114	BICC1	ORPHA:730
HP:0032101	Unusual infection	284058	KANSL1	ORPHA:363958
HP:0032101	Unusual infection	284058	KANSL1	ORPHA:363965
HP:0032101	Unusual infection	284058	KANSL1	OMIM:610443
HP:0032101	Unusual infection	54496	PRMT7	OMIM:617157
HP:0032101	Unusual infection	1136	CHRNA3	OMIM:191800
HP:0032101	Unusual infection	284252	KCTD1	ORPHA:2036
HP:0032101	Unusual infection	2019	EN1	OMIM:619218
HP:0032101	Unusual infection	672	BRCA1	ORPHA:84
HP:0032101	Unusual infection	10459	MAD2L2	ORPHA:84
HP:0032101	Unusual infection	7516	XRCC2	ORPHA:84
HP:0032101	Unusual infection	29089	UBE2T	ORPHA:84
HP:0032101	Unusual infection	675	BRCA2	ORPHA:84
HP:0032101	Unusual infection	55120	FANCL	ORPHA:84
HP:0032101	Unusual infection	2177	FANCD2	ORPHA:84
HP:0032101	Unusual infection	2175	FANCA	ORPHA:84
HP:0032101	Unusual infection	2187	FANCB	ORPHA:84
HP:0032101	Unusual infection	2176	FANCC	ORPHA:84
HP:0032101	Unusual infection	2178	FANCE	ORPHA:84
HP:0032101	Unusual infection	2188	FANCF	ORPHA:84
HP:0032101	Unusual infection	2189	FANCG	ORPHA:84
HP:0032101	Unusual infection	5888	RAD51	ORPHA:84
HP:0032101	Unusual infection	5889	RAD51C	ORPHA:84
HP:0032101	Unusual infection	55159	RFWD3	ORPHA:84
HP:0032101	Unusual infection	83990	BRIP1	ORPHA:84
HP:0032101	Unusual infection	57697	FANCM	ORPHA:84
HP:0032101	Unusual infection	79728	PALB2	ORPHA:84
HP:0032101	Unusual infection	84464	SLX4	ORPHA:84
HP:0032101	Unusual infection	2072	ERCC4	ORPHA:84
HP:0032101	Unusual infection	55215	FANCI	ORPHA:84
HP:0032101	Unusual infection	8626	TP63	ORPHA:93930
HP:0032101	Unusual infection	3670	ISL1	ORPHA:93930
HP:0032101	Unusual infection	3209	HOXA13	ORPHA:2438
HP:0032101	Unusual infection	4478	MSN	OMIM:300988
HP:0032101	Unusual infection	10524	KAT5	OMIM:619103
HP:0032101	Unusual infection	3560	IL2RB	OMIM:618495
HP:0032101	Unusual infection	84818	IL17RC	ORPHA:1334
HP:0032101	Unusual infection	64581	CLEC7A	ORPHA:1334
HP:0032101	Unusual infection	23765	IL17RA	ORPHA:1334
HP:0032101	Unusual infection	10758	TRAF3IP2	ORPHA:1334
HP:0032101	Unusual infection	112744	IL17F	ORPHA:1334
HP:0032101	Unusual infection	149461	CLDN19	OMIM:248190
HP:0032101	Unusual infection	60495	HPSE2	ORPHA:2704
HP:0032101	Unusual infection	60495	HPSE2	OMIM:236730
HP:0032101	Unusual infection	1380	CR2	OMIM:614699
HP:0032101	Unusual infection	8883	NAE1	OMIM:620210
HP:0032101	Unusual infection	28982	FLVCR1	OMIM:609033
HP:0032101	Unusual infection	7840	ALMS1	ORPHA:64
HP:0032101	Unusual infection	538	ATP7A	ORPHA:198
HP:0032101	Unusual infection	84265	POLR3GL	OMIM:619234
HP:0032101	Unusual infection	54809	SAMD9	OMIM:617053
HP:0032101	Unusual infection	54914	FOCAD	OMIM:619991
HP:0032101	Unusual infection	7461	CLIP2	ORPHA:904
HP:0032101	Unusual infection	84277	DNAJC30	ORPHA:904
HP:0032101	Unusual infection	8468	FKBP6	ORPHA:904
HP:0032101	Unusual infection	5982	RFC2	ORPHA:904
HP:0032101	Unusual infection	2969	GTF2I	ORPHA:904
HP:0032101	Unusual infection	3984	LIMK1	ORPHA:904
HP:0032101	Unusual infection	9569	GTF2IRD1	ORPHA:904
HP:0032101	Unusual infection	155382	VPS37D	ORPHA:904
HP:0032101	Unusual infection	155368	METTL27	ORPHA:904
HP:0032101	Unusual infection	114049	BUD23	ORPHA:904
HP:0032101	Unusual infection	7458	EIF4H	ORPHA:904
HP:0032101	Unusual infection	84163	GTF2IRD2	ORPHA:904
HP:0032101	Unusual infection	9275	BCL7B	ORPHA:904
HP:0032101	Unusual infection	26608	TBL2	ORPHA:904
HP:0032101	Unusual infection	135886	TMEM270	ORPHA:904
HP:0032101	Unusual infection	51085	MLXIPL	ORPHA:904
HP:0032101	Unusual infection	51085	MLXIPL	OMIM:194050
HP:0032101	Unusual infection	9031	BAZ1B	ORPHA:904
HP:0032101	Unusual infection	2006	ELN	ORPHA:904
HP:0032101	Unusual infection	2006	ELN	OMIM:194050
HP:0032101	Unusual infection	54796	BNC2	ORPHA:93110
HP:0032101	Unusual infection	10056	FARSB	OMIM:613658
HP:0032101	Unusual infection	493856	CISD2	ORPHA:3463
HP:0032101	Unusual infection	7466	WFS1	ORPHA:3463
HP:0032101	Unusual infection	9380	GRHPR	ORPHA:93599
HP:0032101	Unusual infection	90417	KNSTRN	ORPHA:221139
HP:0032101	Unusual infection	8936	WASF1	OMIM:618707
HP:0032101	Unusual infection	189	AGXT	ORPHA:93598
HP:0032101	Unusual infection	2131	EXT1	ORPHA:502
HP:0032101	Unusual infection	7227	TRPS1	ORPHA:502
HP:0032101	Unusual infection	79228	THOC6	ORPHA:363444
HP:0032101	Unusual infection	79228	THOC6	OMIM:613680
HP:0032101	Unusual infection	100147744	RNU7-1	OMIM:619487
HP:0032101	Unusual infection	374879	ZNF699	OMIM:619488
HP:0032101	Unusual infection	5971	RELB	OMIM:617585
HP:0032101	Unusual infection	10398	MYL9	OMIM:619365
HP:0032101	Unusual infection	10293	TRAIP	OMIM:616777
HP:0032101	Unusual infection	7148	TNXB	OMIM:615963
HP:0032101	Unusual infection	9562	MINPP1	OMIM:619527
HP:0032101	Unusual infection	11128	POLR3A	ORPHA:3455
HP:0032101	Unusual infection	199221	DZIP1L	ORPHA:731
HP:0032101	Unusual infection	5314	PKHD1	ORPHA:731
HP:0032101	Unusual infection	353	APRT	ORPHA:976
HP:0032101	Unusual infection	9968	MED12	OMIM:301068
HP:0032101	Unusual infection	403	ARL3	OMIM:618161
HP:0032101	Unusual infection	6524	SLC5A2	ORPHA:69076
HP:0032101	Unusual infection	7994	KAT6A	OMIM:616268
HP:0032101	Unusual infection	64321	SOX17	OMIM:613674
HP:0032101	Unusual infection	4052	LTBP1	ORPHA:90349
HP:0032101	Unusual infection	30008	EFEMP2	ORPHA:90349
HP:0032101	Unusual infection	10516	FBLN5	ORPHA:90349
HP:0032101	Unusual infection	3110	MNX1	OMIM:176450
HP:0032101	Unusual infection	2303	FOXC2	ORPHA:33001
HP:0032101	Unusual infection	641	BLM	ORPHA:125
HP:0032101	Unusual infection	56246	MRAP	ORPHA:361
HP:0032101	Unusual infection	6770	STAR	ORPHA:361
HP:0032101	Unusual infection	4158	MC2R	ORPHA:361
HP:0032101	Unusual infection	23530	NNT	ORPHA:361
HP:0032101	Unusual infection	10587	TXNRD2	ORPHA:361
HP:0032101	Unusual infection	4001	LMNB1	ORPHA:99027
HP:0032101	Unusual infection	100	ADA	ORPHA:277
HP:0032101	Unusual infection	3071	NCKAP1L	OMIM:618982
HP:0032101	Unusual infection	8367	H4C5	OMIM:619950
HP:0032101	Unusual infection	5728	PTEN	OMIM:605309
HP:0032101	Unusual infection	987	LRBA	OMIM:614700
HP:0032101	Unusual infection	64682	ANAPC1	OMIM:618625
HP:0032101	Unusual infection	9839	ZEB2	OMIM:235730
HP:0032101	Unusual infection	9839	ZEB2	ORPHA:261552
HP:0032101	Unusual infection	9839	ZEB2	ORPHA:261537
HP:0032101	Unusual infection	80232	WDR26	ORPHA:513456
HP:0032101	Unusual infection	80232	WDR26	OMIM:617616
HP:0032101	Unusual infection	4487	MSX1	ORPHA:199306
HP:0032101	Unusual infection	5818	NECTIN1	ORPHA:199306
HP:0032101	Unusual infection	1739	DLG1	ORPHA:199306
HP:0032101	Unusual infection	652	BMP4	ORPHA:199306
HP:0032101	Unusual infection	999	CDH1	ORPHA:199306
HP:0032101	Unusual infection	5156	PDGFRA	ORPHA:199306
HP:0032101	Unusual infection	3664	IRF6	ORPHA:199306
HP:0032101	Unusual infection	9411	ARHGAP29	ORPHA:199306
HP:0032101	Unusual infection	1748	DLX4	ORPHA:199306
HP:0032101	Unusual infection	51111	KMT5B	OMIM:617788
HP:0032101	Unusual infection	146845	CFAP52	OMIM:619607
HP:0032101	Unusual infection	3543	IGLL1	OMIM:613500
HP:0032101	Unusual infection	144568	A2ML1	OMIM:166760
HP:0032101	Unusual infection	29760	BLNK	OMIM:613502
HP:0032101	Unusual infection	79158	GNPTAB	OMIM:252500
HP:0032101	Unusual infection	8382	NME5	OMIM:620032
HP:0032101	Unusual infection	1301	COL11A1	OMIM:154780
HP:0032101	Unusual infection	54	ACP5	OMIM:607944
HP:0032101	Unusual infection	56992	KIF15	ORPHA:261323
HP:0032101	Unusual infection	115650	TNFRSF13C	OMIM:240500
HP:0032101	Unusual infection	29851	ICOS	OMIM:240500
HP:0032101	Unusual infection	29851	ICOS	OMIM:607594
HP:0032101	Unusual infection	930	CD19	OMIM:240500
HP:0032101	Unusual infection	930	CD19	OMIM:613493
HP:0032101	Unusual infection	3572	IL6ST	OMIM:618523
HP:0032101	Unusual infection	8546	AP3B1	OMIM:608233
HP:0032101	Unusual infection	1717	DHCR7	OMIM:270400
HP:0032101	Unusual infection	6899	TBX1	OMIM:188400
HP:0032101	Unusual infection	28755	TRAC	OMIM:615387
HP:0032101	Unusual infection	6885	MAP3K7	OMIM:157800
HP:0032101	Unusual infection	2783	GNB2	OMIM:619503
HP:0032101	Unusual infection	3425	IDUA	OMIM:607014
HP:0032101	Unusual infection	30011	SH3KBP1	OMIM:300310
HP:0032101	Unusual infection	2261	FGFR3	OMIM:616482
HP:0032101	Unusual infection	2261	FGFR3	OMIM:100800
HP:0032101	Unusual infection	2261	FGFR3	OMIM:602849
HP:0032101	Unusual infection	56006	SMG9	OMIM:619995
HP:0032101	Unusual infection	8260	NAA10	OMIM:309800
HP:0032101	Unusual infection	8260	NAA10	OMIM:300855
HP:0032101	Unusual infection	6135	RPL11	OMIM:612562
HP:0032101	Unusual infection	8364	H4C3	OMIM:619758
HP:0032101	Unusual infection	54499	TMCO1	OMIM:213980
HP:0032101	Unusual infection	3507	IGHM	OMIM:601495
HP:0032101	Unusual infection	8314	BAP1	OMIM:619762
HP:0032101	Unusual infection	27086	FOXP1	ORPHA:391372
HP:0032101	Unusual infection	4256	MGP	ORPHA:85202
HP:0032101	Unusual infection	4256	MGP	OMIM:245150
HP:0032101	Unusual infection	974	CD79B	OMIM:612692
HP:0032101	Unusual infection	113179	ADAT3	OMIM:615286
HP:0032101	Unusual infection	113179	ADAT3	ORPHA:363528
HP:0032101	Unusual infection	2542	SLC37A4	OMIM:619525
HP:0032101	Unusual infection	917	CD3G	OMIM:615607
HP:0032101	Unusual infection	3373	HYAL1	OMIM:601492
HP:0032101	Unusual infection	2535	FZD2	OMIM:164745
HP:0032101	Unusual infection	7030	TFE3	OMIM:301066
HP:0032101	Unusual infection	3423	IDS	OMIM:309900
HP:0032101	Unusual infection	6603	SMARCD2	OMIM:617475
HP:0032101	Unusual infection	84522	JAGN1	OMIM:616022
HP:0032101	Unusual infection	3551	IKBKB	OMIM:618204
HP:0032101	Unusual infection	916	CD3E	OMIM:615615
HP:0032101	Unusual infection	915	CD3D	OMIM:615617
HP:0032101	Unusual infection	51311	TLR8	OMIM:301078
HP:0032101	Unusual infection	2742	GLRA2	OMIM:301076
HP:0032101	Unusual infection	55023	PHIP	ORPHA:589905
HP:0032101	Unusual infection	29072	SETD2	OMIM:616831
HP:0032101	Unusual infection	2316	FLNA	OMIM:309350
HP:0032101	Unusual infection	1642	DDB1	OMIM:619426
HP:0032101	Unusual infection	388015	RTL1	ORPHA:254531
HP:0032101	Unusual infection	388015	RTL1	ORPHA:96184
HP:0032101	Unusual infection	8788	DLK1	ORPHA:254531
HP:0032101	Unusual infection	8788	DLK1	ORPHA:96184
HP:0032101	Unusual infection	55384	MEG3	ORPHA:254531
HP:0032101	Unusual infection	55384	MEG3	ORPHA:96184
HP:0032101	Unusual infection	10806	SDCCAG8	OMIM:615993
HP:0032101	Unusual infection	100151683	RNU4ATAC	ORPHA:353298
HP:0032101	Unusual infection	100151683	RNU4ATAC	OMIM:616651
HP:0032101	Unusual infection	9094	UNC119	OMIM:615518
HP:0032101	Unusual infection	79650	USB1	OMIM:604173
HP:0032101	Unusual infection	7314	UBB	ORPHA:99772
HP:0032101	Unusual infection	57822	GRHL3	ORPHA:99772
HP:0032101	Unusual infection	5575	PRKAR1B	OMIM:619680
HP:0032101	Unusual infection	10847	SRCAP	OMIM:136140
HP:0032101	Unusual infection	4297	KMT2A	OMIM:605130
HP:0032101	Unusual infection	57551	TAOK1	OMIM:619575
HP:0032101	Unusual infection	2332	FMR1	ORPHA:449291
HP:0032101	Unusual infection	6045	RNF2	OMIM:619460
HP:0032101	Unusual infection	1280	COL2A1	OMIM:156550
HP:0032101	Unusual infection	5718	PSMD12	ORPHA:529962
HP:0032101	Unusual infection	2186	BPTF	ORPHA:529962
HP:0032101	Unusual infection	1822	ATN1	OMIM:618494
HP:0032101	Unusual infection	7403	KDM6A	OMIM:300867
HP:0032101	Unusual infection	7403	KDM6A	OMIM:147920
HP:0032101	Unusual infection	57003	CCDC47	OMIM:618268
HP:0032101	Unusual infection	5977	DPF2	OMIM:618027
HP:0032101	Unusual infection	55329	MNS1	OMIM:618948
HP:0032101	Unusual infection	920	CD4	OMIM:619238
HP:0032101	Unusual infection	3570	IL6R	OMIM:618944
HP:0032101	Unusual infection	23112	TNRC6B	OMIM:619243
HP:0032101	Unusual infection	51816	ADA2	OMIM:615688
HP:0032101	Unusual infection	50615	IL21R	OMIM:615207
HP:0032101	Unusual infection	2799	GNS	OMIM:252940
HP:0032101	Unusual infection	84905	ZNF341	OMIM:618282
HP:0032101	Unusual infection	5879	RAC1	OMIM:617751
HP:0032101	Unusual infection	5879	RAC1	ORPHA:500159
HP:0032101	Unusual infection	2990	GUSB	OMIM:253220
HP:0032101	Unusual infection	5236	PGM1	OMIM:614921
HP:0032101	Unusual infection	6850	SYK	OMIM:619381
HP:0032101	Unusual infection	341208	HEPHL1	OMIM:261990
HP:0032101	Unusual infection	721	C4B	OMIM:614379
HP:0032101	Unusual infection	1794	DOCK2	OMIM:616433
HP:0032101	Unusual infection	6736	SRY	ORPHA:1772
HP:0032101	Unusual infection	5130	PCYT1A	OMIM:608940
HP:0032101	Unusual infection	5696	PSMB8	OMIM:256040
HP:0032101	Unusual infection	8085	KMT2D	OMIM:147920
HP:0032101	Unusual infection	3909	LAMA3	ORPHA:79404
HP:0032101	Unusual infection	3918	LAMC2	ORPHA:79404
HP:0032101	Unusual infection	3914	LAMB3	ORPHA:79404
HP:0032101	Unusual infection	3587	IL10RA	OMIM:613148
HP:0032101	Unusual infection	54820	NDE1	ORPHA:2177
HP:0032101	Unusual infection	7456	WIPF1	ORPHA:906
HP:0032101	Unusual infection	3115	HLA-DPB1	ORPHA:900
HP:0032101	Unusual infection	5657	PRTN3	ORPHA:900
HP:0032101	Unusual infection	3113	HLA-DPA1	ORPHA:900
HP:0032101	Unusual infection	1776	DNASE1L3	ORPHA:36412
HP:0032101	Unusual infection	596	BCL2	ORPHA:545
HP:0032101	Unusual infection	3492	IGH	ORPHA:545
HP:0032101	Unusual infection	604	BCL6	ORPHA:545
HP:0032101	Unusual infection	58484	NLRC4	OMIM:616050
HP:0032101	Unusual infection	732	C8B	OMIM:613789
HP:0032101	Unusual infection	29110	TBK1	OMIM:617900
HP:0032101	Unusual infection	114548	NLRP3	OMIM:607115
HP:0032101	Unusual infection	114548	NLRP3	ORPHA:1451
HP:0032101	Unusual infection	4689	NCF4	ORPHA:379
HP:0032101	Unusual infection	2215	FCGR3B	ORPHA:464370
HP:0032101	Unusual infection	731	C8A	OMIM:613790
HP:0032101	Unusual infection	57591	MRTFA	OMIM:618847
HP:0032101	Unusual infection	50943	FOXP3	ORPHA:37042
HP:0032101	Unusual infection	10095	ARPC1B	OMIM:617718
HP:0032101	Unusual infection	81839	VANGL1	OMIM:600145
HP:0032101	Unusual infection	7098	TLR3	OMIM:613002
HP:0032101	Unusual infection	6688	SPI1	OMIM:619707
HP:0032101	Unusual infection	56262	LRRC8A	ORPHA:33110
HP:0032101	Unusual infection	5393	EXOSC9	OMIM:618065
HP:0032101	Unusual infection	10054	UBA2	OMIM:619959
HP:0032101	Unusual infection	7360	UGP2	OMIM:618744
HP:0032101	Unusual infection	128178	EDARADD	OMIM:614941
HP:0032101	Unusual infection	79848	CSPP1	ORPHA:397715
HP:0032101	Unusual infection	9786	KIAA0586	ORPHA:397715
HP:0032101	Unusual infection	5354	PLP1	ORPHA:99015
HP:0032101	Unusual infection	249	ALPL	OMIM:241500
HP:0032101	Unusual infection	51506	UFC1	OMIM:618076
HP:0032101	Unusual infection	283489	CHAMP1	OMIM:616579
HP:0032101	Unusual infection	25782	RAB3GAP2	OMIM:212720
HP:0032101	Unusual infection	55768	NGLY1	ORPHA:404454
HP:0032101	Unusual infection	55768	NGLY1	OMIM:615273
HP:0032101	Unusual infection	6261	RYR1	OMIM:255320
HP:0032101	Unusual infection	6261	RYR1	ORPHA:424107
HP:0032101	Unusual infection	6261	RYR1	ORPHA:98905
HP:0032101	Unusual infection	9326	ZNHIT3	ORPHA:2836
HP:0032101	Unusual infection	547	KIF1A	ORPHA:2836
HP:0032101	Unusual infection	64359	NXN	ORPHA:1507
HP:0032101	Unusual infection	4920	ROR2	ORPHA:1507
HP:0032101	Unusual infection	100303755	PET117	OMIM:619063
HP:0032101	Unusual infection	54872	PIGG	ORPHA:280
HP:0032101	Unusual infection	7469	NELFA	ORPHA:280
HP:0032101	Unusual infection	1487	CTBP1	ORPHA:280
HP:0032101	Unusual infection	3954	LETM1	ORPHA:280
HP:0032101	Unusual infection	7468	NSD2	ORPHA:280
HP:0032101	Unusual infection	57190	SELENON	ORPHA:2020
HP:0032101	Unusual infection	58	ACTA1	ORPHA:2020
HP:0032101	Unusual infection	4633	MYL2	ORPHA:2020
HP:0032101	Unusual infection	3679	ITGA7	ORPHA:2020
HP:0032101	Unusual infection	7169	TPM2	ORPHA:2020
HP:0032101	Unusual infection	9200	HACD1	ORPHA:2020
HP:0032101	Unusual infection	7170	TPM3	ORPHA:2020
HP:0032101	Unusual infection	51776	MAP3K20	ORPHA:2020
HP:0032101	Unusual infection	567	B2M	OMIM:241600
HP:0032101	Unusual infection	1789	DNMT3B	ORPHA:2268
HP:0032101	Unusual infection	2752	GLUL	OMIM:610015
HP:0032101	Unusual infection	175	AGA	ORPHA:93
HP:0032101	Unusual infection	175	AGA	OMIM:208400
HP:0032101	Unusual infection	4853	NOTCH2	ORPHA:955
HP:0032101	Unusual infection	113278	SLC52A3	OMIM:211530
HP:0032101	Unusual infection	4534	MTM1	ORPHA:596
HP:0032101	Unusual infection	330	BIRC3	ORPHA:52417
HP:0032101	Unusual infection	57217	TTC7A	OMIM:243150
HP:0032101	Unusual infection	55773	TBC1D23	OMIM:617695
HP:0032101	Unusual infection	9508	ADAMTS3	ORPHA:2136
HP:0032101	Unusual infection	147372	CCBE1	ORPHA:2136
HP:0032101	Unusual infection	79633	FAT4	ORPHA:2136
HP:0032101	Unusual infection	3675	ITGA3	OMIM:614748
HP:0032101	Unusual infection	415	ARSL	ORPHA:79345
HP:0032101	Unusual infection	6609	SMPD1	OMIM:257200
HP:0032101	Unusual infection	6609	SMPD1	OMIM:607616
HP:0032101	Unusual infection	9321	TRIP11	OMIM:184260
HP:0032101	Unusual infection	9772	TMEM94	OMIM:618316
HP:0032101	Unusual infection	26154	ABCA12	ORPHA:457
HP:0032101	Unusual infection	26154	ABCA12	ORPHA:313
HP:0032101	Unusual infection	6638	SNRPN	ORPHA:98754
HP:0032101	Unusual infection	6638	SNRPN	ORPHA:177904
HP:0032101	Unusual infection	6638	SNRPN	ORPHA:177901
HP:0032101	Unusual infection	6638	SNRPN	ORPHA:177907
HP:0032101	Unusual infection	4692	NDN	ORPHA:98754
HP:0032101	Unusual infection	4692	NDN	ORPHA:177904
HP:0032101	Unusual infection	4692	NDN	ORPHA:177901
HP:0032101	Unusual infection	54551	MAGEL2	ORPHA:98754
HP:0032101	Unusual infection	54551	MAGEL2	OMIM:176270
HP:0032101	Unusual infection	54551	MAGEL2	ORPHA:177904
HP:0032101	Unusual infection	54551	MAGEL2	ORPHA:177901
HP:0032101	Unusual infection	54551	MAGEL2	ORPHA:398069
HP:0032101	Unusual infection	4948	OCA2	ORPHA:98754
HP:0032101	Unusual infection	4948	OCA2	ORPHA:177904
HP:0032101	Unusual infection	4948	OCA2	ORPHA:177901
HP:0032101	Unusual infection	145873	MESP2	OMIM:608681
HP:0032101	Unusual infection	145873	MESP2	OMIM:277300
HP:0032101	Unusual infection	197258	FCSK	OMIM:618324
HP:0032101	Unusual infection	23219	FBXO28	OMIM:619777
HP:0032101	Unusual infection	51322	WAC	ORPHA:466950
HP:0032101	Unusual infection	6509	SLC1A4	ORPHA:447997
HP:0032101	Unusual infection	2000	ELF4	OMIM:301074
HP:0032101	Unusual infection	51053	GMNN	OMIM:616835
HP:0032101	Unusual infection	5062	PAK2	OMIM:618458
HP:0032101	Unusual infection	1828	DSG1	OMIM:615508
HP:0032101	Unusual infection	79751	SLC25A22	ORPHA:1935
HP:0032101	Unusual infection	150094	SIK1	ORPHA:1935
HP:0032101	Unusual infection	5830	PEX5	OMIM:616716
HP:0032101	Unusual infection	219285	SAMD9L	ORPHA:2585
HP:0032101	Unusual infection	204	AK2	ORPHA:33355
HP:0032101	Unusual infection	1288	COL4A6	ORPHA:1018
HP:0032101	Unusual infection	1287	COL4A5	ORPHA:1018
HP:0032101	Unusual infection	89891	DYNC2I2	OMIM:615633
HP:0032101	Unusual infection	8818	DPM2	ORPHA:329178
HP:0032101	Unusual infection	7681	MKRN3	OMIM:176270
HP:0032101	Unusual infection	3653	IPW	OMIM:176270
HP:0032101	Unusual infection	791114	PWRN1	OMIM:176270
HP:0032101	Unusual infection	100033413	SNORD116-1	OMIM:176270
HP:0032101	Unusual infection	8924	HERC2	OMIM:176270
HP:0032101	Unusual infection	145624	PWAR1	OMIM:176270
HP:0032101	Unusual infection	23742	NPAP1	OMIM:176270
HP:0032101	Unusual infection	338433	SNORD115-1	OMIM:176270
HP:0032101	Unusual infection	29887	SNX10	ORPHA:667
HP:0032101	Unusual infection	8600	TNFSF11	ORPHA:667
HP:0032101	Unusual infection	7372	UMPS	ORPHA:30
HP:0032101	Unusual infection	23114	NFASC	OMIM:618356
HP:0032101	Unusual infection	6606	SMN1	OMIM:253550
HP:0032101	Unusual infection	6606	SMN1	OMIM:253300
HP:0032101	Unusual infection	83479	DDX59	OMIM:174300
HP:0032101	Unusual infection	6492	SIM1	ORPHA:398079
HP:0032101	Unusual infection	59067	IL21	OMIM:615767
HP:0032101	Unusual infection	7248	TSC1	ORPHA:538
HP:0032101	Unusual infection	7249	TSC2	ORPHA:538
HP:0032101	Unusual infection	10683	DLL3	OMIM:277300
HP:0032101	Unusual infection	4952	OCRL	ORPHA:534
HP:0032101	Unusual infection	4621	MYH3	OMIM:193700
HP:0032101	Unusual infection	6335	SCN9A	ORPHA:90026
HP:0032101	Unusual infection	11280	SCN11A	ORPHA:90026
HP:0032101	Unusual infection	6336	SCN10A	ORPHA:90026
HP:0032101	Unusual infection	55764	IFT122	OMIM:218330
HP:0032101	Unusual infection	7703	PCGF2	OMIM:618371
HP:0032101	Unusual infection	774	CACNA1B	OMIM:618497
HP:0032101	Unusual infection	7161	TP73	OMIM:619466
HP:0032101	Unusual infection	254428	SLC41A1	OMIM:619468
HP:0032101	Unusual infection	51300	TIMMDC1	OMIM:618251
HP:0032101	Unusual infection	8802	SUCLG1	ORPHA:17
HP:0032101	Unusual infection	860	RUNX2	ORPHA:1452
HP:0032101	Unusual infection	151516	ASPRV1	ORPHA:313
HP:0032101	Unusual infection	242	ALOX12B	ORPHA:313
HP:0032101	Unusual infection	126410	CYP4F22	ORPHA:313
HP:0032101	Unusual infection	6820	SULT2B1	ORPHA:313
HP:0032101	Unusual infection	643418	LIPN	ORPHA:313
HP:0032101	Unusual infection	59344	ALOXE3	ORPHA:313
HP:0032101	Unusual infection	348938	NIPAL4	ORPHA:313
HP:0032101	Unusual infection	7051	TGM1	ORPHA:313
HP:0032101	Unusual infection	8943	AP3D1	OMIM:617050
HP:0032101	Unusual infection	2517	FUCA1	OMIM:230000
HP:0032101	Unusual infection	2548	GAA	OMIM:232300
HP:0032101	Unusual infection	84665	MYPN	ORPHA:75249
HP:0032101	Unusual infection	2318	FLNC	ORPHA:75249
HP:0032101	Unusual infection	7139	TNNT2	ORPHA:75249
HP:0032101	Unusual infection	7137	TNNI3	ORPHA:75249
HP:0032101	Unusual infection	10112	KIF20A	ORPHA:75249
HP:0032101	Unusual infection	1836	SLC26A2	ORPHA:628
HP:0032101	Unusual infection	3636	INPPL1	OMIM:258480
HP:0032101	Unusual infection	3636	INPPL1	ORPHA:2746
HP:0032101	Unusual infection	2077	ERF	OMIM:617180
HP:0032101	Unusual infection	55617	TASP1	OMIM:618950
HP:0032101	Unusual infection	51124	IER3IP1	OMIM:614231
HP:0032101	Unusual infection	57477	SHROOM4	ORPHA:85288
HP:0032101	Unusual infection	84340	GFM2	OMIM:618397
HP:0032101	Unusual infection	6911	TBX6	ORPHA:1797
HP:0032101	Unusual infection	2890	GRIA1	OMIM:619927
HP:0032101	Unusual infection	60482	SLC5A7	ORPHA:98914
HP:0032101	Unusual infection	4649	MYO9A	ORPHA:98914
HP:0032101	Unusual infection	1103	CHAT	ORPHA:98914
HP:0032101	Unusual infection	6576	SLC25A1	ORPHA:98914
HP:0032101	Unusual infection	6843	VAMP1	ORPHA:98914
HP:0032101	Unusual infection	375790	AGRN	ORPHA:98914
HP:0032101	Unusual infection	127833	SYT2	ORPHA:98914
HP:0032101	Unusual infection	6572	SLC18A3	ORPHA:98914
HP:0032101	Unusual infection	6616	SNAP25	ORPHA:98914
HP:0032101	Unusual infection	1893	ECM1	ORPHA:530
HP:0032101	Unusual infection	9895	TECPR2	ORPHA:320385
HP:0032101	Unusual infection	4938	OAS1	OMIM:618042
HP:0032101	Unusual infection	8651	SOCS1	OMIM:619375
HP:0032101	Unusual infection	738	VPS51	OMIM:618606
HP:0032101	Unusual infection	5116	PCNT	ORPHA:2637
HP:0032101	Unusual infection	5430	POLR2A	OMIM:618603
HP:0032101	Unusual infection	23522	KAT6B	ORPHA:3047
HP:0032101	Unusual infection	26123	TCTN3	ORPHA:2753
HP:0032101	Unusual infection	9897	WASHC5	ORPHA:7
HP:0032101	Unusual infection	28952	CCDC22	ORPHA:7
HP:0032101	Unusual infection	129285	PPP1R21	OMIM:619383
HP:0032101	Unusual infection	80169	CTC1	ORPHA:1775
HP:0032101	Unusual infection	26277	TINF2	ORPHA:1775
HP:0032101	Unusual infection	55135	WRAP53	ORPHA:1775
HP:0032101	Unusual infection	51750	RTEL1	ORPHA:1775
HP:0032101	Unusual infection	55505	NOP10	ORPHA:1775
HP:0032101	Unusual infection	5073	PARN	ORPHA:1775
HP:0032101	Unusual infection	1736	DKC1	ORPHA:1775
HP:0032101	Unusual infection	406932	MIR140	OMIM:618618
HP:0032101	Unusual infection	25871	NEPRO	OMIM:618853
HP:0032101	Unusual infection	9325	TRIP4	ORPHA:486815
HP:0032101	Unusual infection	6772	STAT1	ORPHA:391487
HP:0032101	Unusual infection	10043	TOM1	ORPHA:391487
HP:0032101	Unusual infection	8517	IKBKG	ORPHA:464
HP:0032101	Unusual infection	5551	PRF1	ORPHA:540
HP:0032101	Unusual infection	5551	PRF1	OMIM:603553
HP:0032101	Unusual infection	8676	STX11	ORPHA:540
HP:0032101	Unusual infection	201294	UNC13D	ORPHA:540
HP:0032101	Unusual infection	6813	STXBP2	ORPHA:540
HP:0032101	Unusual infection	8915	BCL10	OMIM:616098
HP:0032101	Unusual infection	54968	TMEM70	ORPHA:1194
HP:0032101	Unusual infection	3930	LBR	ORPHA:779
HP:0032101	Unusual infection	3662	IRF4	ORPHA:3452
HP:0032101	Unusual infection	331	XIAP	OMIM:308240
HP:0032101	Unusual infection	4068	SH2D1A	OMIM:308240
HP:0032101	Unusual infection	340024	SLC6A19	ORPHA:2116
HP:0032101	Unusual infection	57393	CLTRN	ORPHA:2116
HP:0032101	Unusual infection	546	ATRX	ORPHA:847
HP:0032101	Unusual infection	79944	L2HGDH	ORPHA:79314
HP:0032101	Unusual infection	149233	IL23R	ORPHA:117
HP:0032101	Unusual infection	6775	STAT4	ORPHA:117
HP:0032101	Unusual infection	3586	IL10	ORPHA:117
HP:0032101	Unusual infection	4210	MEFV	ORPHA:117
HP:0032101	Unusual infection	1230	CCR1	ORPHA:117
HP:0032101	Unusual infection	355	FAS	ORPHA:117
HP:0032101	Unusual infection	3592	IL12A	ORPHA:117
HP:0032101	Unusual infection	101928376	IL12A-AS1	ORPHA:117
HP:0032101	Unusual infection	3106	HLA-B	ORPHA:117
HP:0032101	Unusual infection	7099	TLR4	ORPHA:117
HP:0032101	Unusual infection	3459	IFNGR1	ORPHA:117
HP:0032101	Unusual infection	720	C4A	ORPHA:117
HP:0032101	Unusual infection	337867	UBAC2	ORPHA:117
HP:0032101	Unusual infection	51752	ERAP1	ORPHA:117
HP:0032101	Unusual infection	8302	KLRC4	ORPHA:117
HP:0032101	Unusual infection	7092	TLL1	ORPHA:99103
HP:0032101	Unusual infection	57057	TBX20	ORPHA:99103
HP:0032101	Unusual infection	4624	MYH6	ORPHA:99103
HP:0032101	Unusual infection	1482	NKX2-5	ORPHA:99103
HP:0032101	Unusual infection	70	ACTC1	ORPHA:99103
HP:0032101	Unusual infection	10370	CITED2	ORPHA:99103
HP:0032101	Unusual infection	2626	GATA4	ORPHA:99103
HP:0032101	Unusual infection	2627	GATA6	ORPHA:99103
HP:0032101	Unusual infection	9056	SLC7A7	ORPHA:470
HP:0032101	Unusual infection	6905	TBCE	OMIM:241410
HP:0032101	Unusual infection	6905	TBCE	OMIM:244460
HP:0032101	Unusual infection	931	MS4A1	OMIM:613495
HP:0032101	Unusual infection	975	CD81	OMIM:613496
HP:0032101	Unusual infection	83706	FERMT3	OMIM:612840
HP:0032101	Unusual infection	3075	CFH	OMIM:609814
HP:0032101	Unusual infection	10559	SLC35A1	OMIM:603585
HP:0032101	Unusual infection	5873	RAB27A	OMIM:607624
HP:0032101	Unusual infection	7922	SLC39A7	OMIM:619693
HP:0032101	Unusual infection	10616	RBCK1	OMIM:615895
HP:0032101	Unusual infection	1675	CFD	OMIM:613912
HP:0032101	Unusual infection	958	CD40	OMIM:606843
HP:0032101	Unusual infection	1053	CEBPE	OMIM:245480
HP:0032101	Unusual infection	10456	HAX1	OMIM:610738
HP:0032101	Unusual infection	27183	VPS4A	OMIM:619273
HP:0032101	Unusual infection	7528	YY1	ORPHA:506358
HP:0032101	Unusual infection	7528	YY1	OMIM:617557
HP:0032101	Unusual infection	26960	NBEA	OMIM:619157
HP:0032101	Unusual infection	26235	FBXL4	OMIM:615471
HP:0032101	Unusual infection	3119	HLA-DQB1	ORPHA:703
HP:0032101	Unusual infection	8854	ALDH1A2	OMIM:620025
HP:0032101	Unusual infection	7018	TF	ORPHA:1195
HP:0032101	Unusual infection	4522	MTHFD1	OMIM:617780
HP:0032101	Unusual infection	80816	ASXL3	OMIM:615485
HP:0032101	Unusual infection	89910	UBE3B	OMIM:244450
HP:0032101	Unusual infection	2137	EXTL3	OMIM:617425
HP:0032101	Unusual infection	55788	LMBRD1	OMIM:277380
HP:0032101	Unusual infection	55788	LMBRD1	ORPHA:79284
HP:0032101	Unusual infection	9382	COG1	OMIM:611209
HP:0032101	Unusual infection	4868	NPHS1	OMIM:256300
HP:0032101	Unusual infection	7298	TYMS	OMIM:620040
HP:0032101	Unusual infection	7012	TERC	ORPHA:88
HP:0032101	Unusual infection	7015	TERT	ORPHA:88
HP:0032101	Unusual infection	9739	SETD1A	OMIM:619056
HP:0032101	Unusual infection	80204	FBXO11	OMIM:618089
HP:0032101	Unusual infection	6786	STIM1	OMIM:612783
HP:0032101	Unusual infection	340061	STING1	OMIM:615934
HP:0032101	Unusual infection	8772	FADD	OMIM:613759
HP:0032101	Unusual infection	171023	ASXL1	ORPHA:97297
HP:0032101	Unusual infection	171023	ASXL1	OMIM:605039
HP:0032101	Unusual infection	64919	BCL11B	OMIM:618092
HP:0032101	Unusual infection	1656	DDX6	OMIM:618653
HP:0032101	Unusual infection	7156	TOP3A	OMIM:618097
HP:0032101	Unusual infection	3070	HELLS	OMIM:616911
HP:0032101	Unusual infection	26057	ANKRD17	OMIM:619504
HP:0032101	Unusual infection	83879	CDCA7	OMIM:616910
HP:0032101	Unusual infection	84947	SERAC1	OMIM:614739
HP:0032101	Unusual infection	10522	DEAF1	OMIM:615828
HP:0032101	Unusual infection	10522	DEAF1	ORPHA:468620
HP:0032101	Unusual infection	1499	CTNNB1	ORPHA:54595
HP:0032101	Unusual infection	3981	LIG4	ORPHA:235
HP:0032101	Unusual infection	54888	NSUN2	ORPHA:235
HP:0032101	Unusual infection	8493	PPM1D	OMIM:617450
HP:0032101	Unusual infection	23126	POGZ	OMIM:616364
HP:0032101	Unusual infection	712	C1QA	OMIM:613652
HP:0032101	Unusual infection	51692	CPSF3	OMIM:619876
HP:0032101	Unusual infection	6134	RPL10	ORPHA:459070
HP:0032101	Unusual infection	6134	RPL10	OMIM:300998
HP:0032101	Unusual infection	6134	RPL10	ORPHA:435938
HP:0032101	Unusual infection	83475	DOHH	OMIM:620066
HP:0032101	Unusual infection	55719	SLF2	OMIM:620184
HP:0032101	Unusual infection	92667	MGME1	ORPHA:352447
HP:0032101	Unusual infection	92667	MGME1	OMIM:615084
HP:0032101	Unusual infection	56052	ALG1	ORPHA:79327
HP:0032101	Unusual infection	715	C1R	OMIM:130080
HP:0032101	Unusual infection	79813	EHMT1	ORPHA:261652
HP:0032101	Unusual infection	58508	KMT2C	ORPHA:261652
HP:0032101	Unusual infection	11311	VPS45	OMIM:615285
HP:0032101	Unusual infection	50485	SMARCAL1	ORPHA:1830
HP:0032101	Unusual infection	50485	SMARCAL1	OMIM:242900
HP:0032101	Unusual infection	9993	DGCR2	OMIM:192430
HP:0032101	Unusual infection	8220	ESS2	OMIM:192430
HP:0032101	Unusual infection	8214	DGCR6	OMIM:192430
HP:0032101	Unusual infection	54487	DGCR8	OMIM:192430
HP:0032101	Unusual infection	91949	COG7	ORPHA:79333
HP:0032101	Unusual infection	91949	COG7	OMIM:608779
HP:0032101	Unusual infection	775	CACNA1C	OMIM:601005
HP:0032101	Unusual infection	7355	SLC35A2	OMIM:300896
HP:0032101	Unusual infection	5692	PSMB4	OMIM:617591
HP:0032101	Unusual infection	5698	PSMB9	OMIM:617591
HP:0032101	Unusual infection	64116	SLC39A8	ORPHA:468699
HP:0032101	Unusual infection	64116	SLC39A8	OMIM:616721
HP:0032101	Unusual infection	10195	ALG3	ORPHA:79321
HP:0032101	Unusual infection	8295	TRRAP	OMIM:618454
HP:0032101	Unusual infection	3980	LIG3	OMIM:619780
HP:0032101	Unusual infection	5256	PHKA2	ORPHA:264580
HP:0032101	Unusual infection	5261	PHKG2	ORPHA:264580
HP:0032101	Unusual infection	284119	CAVIN1	OMIM:613327
HP:0032101	Unusual infection	10159	ATP6AP2	OMIM:301045
HP:0032101	Unusual infection	1441	CSF3R	OMIM:617014
HP:0032101	Unusual infection	128869	PIGU	OMIM:618590
HP:0032101	Unusual infection	79868	ALG13	OMIM:300884
HP:0032101	Unusual infection	169792	GLIS3	OMIM:610199
HP:0032101	Unusual infection	998	CDC42	OMIM:616737
HP:0032101	Unusual infection	998	CDC42	ORPHA:487796
HP:0032101	Unusual infection	27185	DISC1	ORPHA:171703
HP:0032101	Unusual infection	8320	EOMES	ORPHA:171703
HP:0032101	Unusual infection	9837	GINS1	OMIM:617827
HP:0032101	Unusual infection	537	ATP6AP1	OMIM:300972
HP:0032101	Unusual infection	3643	INSR	OMIM:246200
HP:0032101	Unusual infection	3643	INSR	ORPHA:769
HP:0032101	Unusual infection	3376	IARS1	ORPHA:541423
HP:0032101	Unusual infection	2917	GRM7	OMIM:618922
HP:0032101	Unusual infection	5257	PHKB	ORPHA:79240
HP:0032101	Unusual infection	9361	LONP1	ORPHA:79243
HP:0032101	Unusual infection	5160	PDHA1	ORPHA:79243
HP:0032101	Unusual infection	5422	POLA1	OMIM:301030
HP:0032101	Unusual infection	25942	SIN3A	ORPHA:94065
HP:0032101	Unusual infection	3977	LIFR	OMIM:601559
HP:0032101	Unusual infection	4126	MANBA	OMIM:248510
HP:0032101	Unusual infection	55340	GIMAP5	OMIM:619463
HP:0032101	Unusual infection	57511	COG6	OMIM:614576
HP:0032101	Unusual infection	9419	CRIPT	OMIM:615789
HP:0032101	Unusual infection	4629	MYH11	OMIM:619351
HP:0032101	Unusual infection	2892	GRIA3	ORPHA:364028
HP:0032101	Unusual infection	29927	SEC61A1	OMIM:617056
HP:0032101	Unusual infection	23568	ARL2BP	OMIM:615434
HP:0032101	Unusual infection	10815	CPLX1	OMIM:617976
HP:0032101	Unusual infection	6513	SLC2A1	ORPHA:168577
HP:0032101	Unusual infection	207	AKT1	ORPHA:744
HP:0032101	Unusual infection	7204	TRIO	OMIM:617061
HP:0032101	Unusual infection	7204	TRIO	ORPHA:476126
HP:0032101	Unusual infection	3845	KRAS	OMIM:614470
HP:0032101	Unusual infection	4893	NRAS	OMIM:614470
HP:0032101	Unusual infection	374354	NHLRC2	OMIM:618278
HP:0032101	Unusual infection	283989	TSEN54	ORPHA:2524
HP:0032101	Unusual infection	116461	TSEN15	ORPHA:2524
HP:0032101	Unusual infection	79042	TSEN34	ORPHA:2524
HP:0032101	Unusual infection	80746	TSEN2	ORPHA:2524
HP:0032101	Unusual infection	51091	SEPSECS	ORPHA:2524
HP:0032101	Unusual infection	6651	SON	ORPHA:500150
HP:0032101	Unusual infection	5970	RELA	OMIM:618287
HP:0032101	Unusual infection	2806	GOT2	OMIM:618721
HP:0032101	Unusual infection	5557	PRIM1	OMIM:620005
HP:0032101	Unusual infection	23389	MED13L	OMIM:616789
HP:0032101	Unusual infection	9757	KMT2B	OMIM:619934
HP:0032101	Unusual infection	2581	GALC	ORPHA:206436
HP:0032101	Unusual infection	5660	PSAP	ORPHA:206436
HP:0032101	Unusual infection	83737	ITCH	ORPHA:228426
HP:0032101	Unusual infection	9451	EIF2AK3	ORPHA:1667
HP:0032101	Unusual infection	118429	ANTXR2	OMIM:228600
HP:0032101	Unusual infection	131669	UROC1	ORPHA:210128
HP:0032101	Unusual infection	84823	LMNB2	OMIM:608709
HP:0032101	Unusual infection	9652	SKIC3	ORPHA:84064
HP:0032101	Unusual infection	6499	SKIC2	ORPHA:84064
HP:0032101	Unusual infection	3861	KRT14	ORPHA:79396
HP:0032101	Unusual infection	5297	PI4KA	ORPHA:436252
HP:0032101	Unusual infection	4914	NTRK1	ORPHA:642
HP:0032101	Unusual infection	7454	WAS	OMIM:301000
HP:0032101	Unusual infection	695	BTK	OMIM:300755
HP:0032101	Unusual infection	1291	COL6A1	OMIM:254090
HP:0032101	Unusual infection	1292	COL6A2	OMIM:254090
HP:0032101	Unusual infection	1293	COL6A3	OMIM:254090
HP:0032101	Unusual infection	10664	CTCF	ORPHA:363611
HP:0032101	Unusual infection	29775	CARD10	OMIM:619632
HP:0032101	Unusual infection	6340	SCNN1G	ORPHA:60033
HP:0032101	Unusual infection	1080	CFTR	ORPHA:60033
HP:0032101	Unusual infection	6337	SCNN1A	ORPHA:60033
HP:0032101	Unusual infection	6338	SCNN1B	ORPHA:60033
HP:0032101	Unusual infection	213	ALB	OMIM:616000
HP:0032101	Unusual infection	213	ALB	ORPHA:86816
HP:0032101	Unusual infection	4261	CIITA	OMIM:209920
HP:0032101	Unusual infection	5994	RFXAP	OMIM:209920
HP:0032101	Unusual infection	5993	RFX5	OMIM:209920
HP:0032101	Unusual infection	8625	RFXANK	OMIM:209920
HP:0032101	Unusual infection	6774	STAT3	OMIM:615952
HP:0032101	Unusual infection	1305	COL13A1	OMIM:616720
HP:0032101	Unusual infection	5295	PIK3R1	OMIM:616005
HP:0032101	Unusual infection	4860	PNP	OMIM:613179
HP:0032101	Unusual infection	79912	PYROXD1	OMIM:617258
HP:0032101	Unusual infection	5580	PRKCD	OMIM:615559
HP:0032101	Unusual infection	2622	GAS8	OMIM:616726
HP:0032101	Unusual infection	5880	RAC2	OMIM:618986
HP:0032101	Unusual infection	3932	LCK	OMIM:615758
HP:0032101	Unusual infection	8021	NUP214	OMIM:618426
HP:0032101	Unusual infection	54440	SASH3	OMIM:301082
HP:0032101	Unusual infection	959	CD40LG	OMIM:308230
HP:0032101	Unusual infection	79759	ZNF668	OMIM:620194
HP:0032101	Unusual infection	114803	MYSM1	ORPHA:508542
HP:0032101	Unusual infection	3575	IL7R	ORPHA:169154
HP:0032101	Unusual infection	3718	JAK3	OMIM:600802
HP:0032101	Unusual infection	57169	ZNFX1	OMIM:619644
HP:0032101	Unusual infection	6809	STX3	OMIM:619446
HP:0032101	Unusual infection	8481	OFD1	OMIM:300209
HP:0032101	Unusual infection	1289	COL5A1	OMIM:130000
HP:0032101	Unusual infection	11151	CORO1A	OMIM:615401
HP:0032101	Unusual infection	8547	FCN3	OMIM:613860
HP:0032101	Unusual infection	10525	HYOU1	OMIM:233600
HP:0032101	Unusual infection	4780	NFE2L2	OMIM:617744
HP:0032101	Unusual infection	472	ATM	OMIM:208900
HP:0032101	Unusual infection	5591	PRKDC	OMIM:615966
HP:0032101	Unusual infection	973	CD79A	OMIM:613501
HP:0032101	Unusual infection	91869	RFT1	OMIM:612015
HP:0032101	Unusual infection	64135	IFIH1	OMIM:615846
HP:0032101	Unusual infection	8292	COLQ	ORPHA:98915
HP:0032101	Unusual infection	3913	LAMB2	ORPHA:98915
HP:0032101	Unusual infection	6662	SOX9	OMIM:114290
HP:0032101	Unusual infection	10551	AGR2	OMIM:620233
HP:0032101	Unusual infection	3908	LAMA2	ORPHA:258
HP:0032101	Unusual infection	57609	DIP2B	OMIM:136630
HP:0032101	Unusual infection	4718	NDUFC2	OMIM:619170
HP:0032101	Unusual infection	3978	LIG1	OMIM:619774
HP:0032101	Unusual infection	79989	IFT56	OMIM:619534
HP:0032101	Unusual infection	2530	FUT8	OMIM:618005
HP:0032101	Unusual infection	1493	CTLA4	OMIM:616100
HP:0032101	Unusual infection	92579	G6PC3	OMIM:612541
HP:0032101	Unusual infection	50628	GEMIN4	OMIM:617913
HP:0032101	Unusual infection	5426	POLE	OMIM:615139
HP:0032101	Unusual infection	92344	GORAB	OMIM:231070
HP:0032101	Unusual infection	3514	IGKC	ORPHA:183675
HP:0032101	Unusual infection	3501	IGHG2	ORPHA:183675
HP:0032101	Unusual infection	1604	CD55	OMIM:226300
HP:0032101	Unusual infection	7174	TPP2	OMIM:619220
HP:0032101	Unusual infection	115399	LRRC56	OMIM:618254
HP:0032101	Unusual infection	10892	MALT1	OMIM:615468
HP:0032101	Unusual infection	4591	TRIM37	OMIM:253250
HP:0032101	Unusual infection	2302	FOXJ1	OMIM:618699
HP:0032101	Unusual infection	10125	RASGRP1	OMIM:618534
HP:0032101	Unusual infection	7407	VARS1	OMIM:617802
HP:0032101	Unusual infection	6304	SATB1	OMIM:619229
HP:0032101	Unusual infection	9138	ARHGEF1	OMIM:618459
HP:0032101	Unusual infection	83483	PLVAP	OMIM:618183
HP:0032101	Unusual infection	6448	SGSH	OMIM:252900
HP:0032101	Unusual infection	411	ARSB	OMIM:253200
HP:0032101	Unusual infection	57465	TBC1D24	ORPHA:352596
HP:0032101	Unusual infection	3952	LEP	ORPHA:66628
HP:0032101	Unusual infection	3952	LEP	OMIM:614962
HP:0032101	Unusual infection	427	ASAH1	ORPHA:333
HP:0032101	Unusual infection	25839	COG4	ORPHA:263501
HP:0032101	Unusual infection	4784	NFIX	OMIM:602535
HP:0032101	Unusual infection	7852	CXCR4	OMIM:193670
HP:0032101	Unusual infection	7852	CXCR4	ORPHA:51636
HP:0032101	Unusual infection	6597	SMARCA4	ORPHA:1465
HP:0032101	Unusual infection	6598	SMARCB1	ORPHA:1465
HP:0032101	Unusual infection	6659	SOX4	ORPHA:1465
HP:0032101	Unusual infection	8289	ARID1A	ORPHA:1465
HP:0032101	Unusual infection	6601	SMARCC2	ORPHA:1465
HP:0032101	Unusual infection	6602	SMARCD1	ORPHA:1465
HP:0032101	Unusual infection	57492	ARID1B	ORPHA:1465
HP:0032101	Unusual infection	196528	ARID2	ORPHA:1465
HP:0032101	Unusual infection	6605	SMARCE1	ORPHA:1465
HP:0032101	Unusual infection	6664	SOX11	ORPHA:1465
HP:0032101	Unusual infection	5631	PRPS1	ORPHA:1187
HP:0032101	Unusual infection	5631	PRPS1	OMIM:301835
HP:0032101	Unusual infection	3953	LEPR	OMIM:614963
HP:0032101	Unusual infection	3953	LEPR	ORPHA:179494
HP:0032101	Unusual infection	8456	FOXN1	OMIM:618806
HP:0032101	Unusual infection	146206	CARMIL2	OMIM:618131
HP:0032101	Unusual infection	2720	GLB1	OMIM:253010
HP:0032101	Unusual infection	3852	KRT5	OMIM:619599
HP:0032101	Unusual infection	2588	GALNS	OMIM:253000
HP:0032101	Unusual infection	9841	ZBTB24	OMIM:614069
HP:0032101	Unusual infection	51360	MBTPS2	OMIM:308205
HP:0032101	Unusual infection	79803	HPS6	OMIM:614075
HP:0032101	Unusual infection	5340	PLG	OMIM:217090
HP:0032101	Unusual infection	51341	ZBTB7A	OMIM:619769
HP:0032101	Unusual infection	8242	KDM5C	OMIM:300534
HP:0032101	Unusual infection	23247	KATNIP	OMIM:616784
HP:0032101	Unusual infection	138050	HGSNAT	OMIM:252930
HP:0032101	Unusual infection	7388	UQCRH	OMIM:620137
HP:0032101	Unusual infection	4669	NAGLU	OMIM:252920
HP:0032101	Unusual infection	54808	DYM	ORPHA:239
HP:0032101	Unusual infection	3588	IL10RB	OMIM:612567
HP:0032101	Unusual infection	8742	TNFSF12	ORPHA:1572
HP:0032101	Unusual infection	6901	TAFAZZIN	OMIM:302060
HP:0032101	Unusual infection	6789	STK4	OMIM:614868
HP:0032101	Unusual infection	4173	MCM4	OMIM:609981
HP:0032101	Unusual infection	253959	RALGAPA1	OMIM:618797
HP:0032101	Unusual infection	7297	TYK2	OMIM:611521
HP:0032101	Unusual infection	3716	JAK1	OMIM:618999
HP:0032101	Unusual infection	79840	NHEJ1	ORPHA:169079
HP:0032101	Unusual infection	134218	DNAJC21	ORPHA:811
HP:0032101	Unusual infection	79631	EFL1	ORPHA:811
HP:0032101	Unusual infection	51119	SBDS	ORPHA:811
HP:0032101	Unusual infection	925	CD8A	OMIM:608957
HP:0032101	Unusual infection	57724	EPG5	OMIM:242840
HP:0032101	Unusual infection	51371	POMP	OMIM:618048
HP:0032101	Unusual infection	10379	IRF9	OMIM:618648
HP:0032101	Unusual infection	3431	SP110	ORPHA:79124
HP:0032101	Unusual infection	2624	GATA2	OMIM:614172
HP:0032101	Unusual infection	2313	FLI1	OMIM:617443
HP:0032101	Unusual infection	10320	IKZF1	OMIM:616873
HP:0032101	Unusual infection	3559	IL2RA	OMIM:606367
HP:0032101	Unusual infection	11005	SPINK5	OMIM:256500
HP:0032101	Unusual infection	4792	NFKBIA	OMIM:612132
HP:0032101	Unusual infection	8518	ELP1	OMIM:223900
HP:0032101	Unusual infection	57731	SPTBN4	OMIM:617519
HP:0032101	Unusual infection	2321	FLT1	ORPHA:275555
HP:0032101	Unusual infection	219736	STOX1	ORPHA:275555
HP:0032101	Unusual infection	10699	CORIN	ORPHA:275555
HP:0032101	Unusual infection	919	CD247	ORPHA:169160
HP:0032101	Unusual infection	919	CD247	OMIM:610163
HP:0032101	Unusual infection	81622	UNC93B1	OMIM:610551
HP:0032101	Unusual infection	6023	RMRP	OMIM:250250
HP:0032101	Unusual infection	3561	IL2RG	ORPHA:276
HP:0032101	Unusual infection	6804	STX1A	ORPHA:586
HP:0032101	Unusual infection	2947	GSTM3	ORPHA:586
HP:0032101	Unusual infection	7040	TGFB1	ORPHA:586
HP:0032101	Unusual infection	2729	GCLC	ORPHA:586
HP:0032101	Unusual infection	1084	CEACAM3	ORPHA:586
HP:0032101	Unusual infection	6556	SLC11A1	ORPHA:586
HP:0032101	Unusual infection	51164	DCTN4	ORPHA:586
HP:0032101	Unusual infection	3783	KCNN4	ORPHA:586
HP:0032101	Unusual infection	4282	MIF	ORPHA:586
HP:0032101	Unusual infection	1909	EDNRA	ORPHA:586
HP:0032101	Unusual infection	6550	SLC9A3	ORPHA:586
HP:0032101	Unusual infection	3162	HMOX1	ORPHA:586
HP:0032101	Unusual infection	115019	SLC26A9	ORPHA:586
HP:0032101	Unusual infection	3077	HFE	ORPHA:586
HP:0032101	Unusual infection	11254	SLC6A14	ORPHA:586
HP:0032101	Unusual infection	5265	SERPINA1	ORPHA:586
HP:0032101	Unusual infection	22802	CLCA4	ORPHA:586
HP:0032101	Unusual infection	4680	CEACAM6	ORPHA:586
HP:0032101	Unusual infection	3426	CFI	OMIM:610984
HP:0032101	Unusual infection	6103	RPGR	OMIM:300455
HP:0032101	Unusual infection	730	C7	OMIM:610102
HP:0032101	Unusual infection	727	C5	OMIM:609536
HP:0032101	Unusual infection	729	C6	OMIM:612446
HP:0032101	Unusual infection	4153	MBL2	OMIM:614372
HP:0032101	Unusual infection	629	CFB	OMIM:615561
HP:0032101	Unusual infection	55651	NHP2	OMIM:613987
HP:0032101	Unusual infection	55630	SLC39A4	OMIM:201100
HP:0032101	Unusual infection	686	BTD	ORPHA:79241
HP:0032101	Unusual infection	10804	GJB6	ORPHA:477
HP:0032101	Unusual infection	2706	GJB2	ORPHA:477
HP:0032101	Unusual infection	2706	GJB2	OMIM:148210
HP:0032101	Unusual infection	1536	CYBB	OMIM:306400
HP:0032101	Unusual infection	4615	MYD88	ORPHA:183713
HP:0032101	Unusual infection	1075	CTSC	OMIM:245010
HP:0032101	Unusual infection	4688	NCF2	OMIM:233710
HP:0032101	Unusual infection	653361	NCF1	OMIM:233700
HP:0032101	Unusual infection	1535	CYBA	OMIM:233690
HP:0032101	Unusual infection	7535	ZAP70	ORPHA:911
HP:0032101	Unusual infection	7390	UROS	ORPHA:79277
HP:0032101	Unusual infection	2623	GATA1	ORPHA:79277
HP:0032101	Unusual infection	2050	EPHB4	ORPHA:90186
HP:0032101	Unusual infection	6868	ADAM17	ORPHA:294023
HP:0032101	Unusual infection	1956	EGFR	ORPHA:294023
HP:0032101	Unusual infection	7389	UROD	ORPHA:95159
HP:0032101	Unusual infection	81704	DOCK8	ORPHA:217390
HP:0032101	Unusual infection	3689	ITGB2	OMIM:116920
HP:0032101	Unusual infection	25981	DNAH1	ORPHA:244
HP:0032101	Unusual infection	115948	ODAD3	ORPHA:244
HP:0032101	Unusual infection	54768	HYDIN	ORPHA:244
HP:0032101	Unusual infection	352909	DNAAF3	ORPHA:244
HP:0032101	Unusual infection	27148	STK36	ORPHA:244
HP:0032101	Unusual infection	51314	NME8	ORPHA:244
HP:0032101	Unusual infection	92749	DRC1	ORPHA:244
HP:0032101	Unusual infection	54970	TTC12	ORPHA:244
HP:0032101	Unusual infection	152110	NEK10	ORPHA:244
HP:0032101	Unusual infection	221421	RSPH9	ORPHA:244
HP:0032101	Unusual infection	85478	CCDC65	ORPHA:244
HP:0032101	Unusual infection	55036	CCDC40	ORPHA:244
HP:0032101	Unusual infection	51364	ZMYND10	ORPHA:244
HP:0032101	Unusual infection	64446	DNAI2	ORPHA:244
HP:0032101	Unusual infection	6674	SPAG1	ORPHA:244
HP:0032101	Unusual infection	83544	DNAL1	ORPHA:244
HP:0032101	Unusual infection	89765	RSPH1	ORPHA:244
HP:0032101	Unusual infection	83538	ODAD4	ORPHA:244
HP:0032101	Unusual infection	200373	CFAP221	ORPHA:244
HP:0032101	Unusual infection	374407	DNAJB13	ORPHA:244
HP:0032101	Unusual infection	55172	DNAAF2	ORPHA:244
HP:0032101	Unusual infection	161582	DNAAF4	ORPHA:244
HP:0032101	Unusual infection	23639	DNAAF11	ORPHA:244
HP:0032101	Unusual infection	27019	DNAI1	ORPHA:244
HP:0032101	Unusual infection	345895	RSPH4A	ORPHA:244
HP:0032101	Unusual infection	54919	DNAAF5	ORPHA:244
HP:0032101	Unusual infection	388389	CCDC103	ORPHA:244
HP:0032101	Unusual infection	93233	ODAD1	ORPHA:244
HP:0032101	Unusual infection	55130	ODAD2	ORPHA:244
HP:0032101	Unusual infection	1767	DNAH5	ORPHA:244
HP:0032101	Unusual infection	83861	RSPH3	ORPHA:244
HP:0032101	Unusual infection	345643	MCIDAS	ORPHA:244
HP:0032101	Unusual infection	56683	CFAP298	ORPHA:244
HP:0032101	Unusual infection	79925	SPEF2	ORPHA:244
HP:0032101	Unusual infection	10309	CCNO	ORPHA:244
HP:0032101	Unusual infection	139212	DNAAF6	ORPHA:244
HP:0032101	Unusual infection	123872	DNAAF1	ORPHA:244
HP:0032101	Unusual infection	85016	CFAP300	ORPHA:244
HP:0032101	Unusual infection	339829	CCDC39	ORPHA:244
HP:0032101	Unusual infection	8701	DNAH11	ORPHA:244
HP:0032101	Unusual infection	1770	DNAH9	ORPHA:244
HP:0032101	Unusual infection	246176	GAS2L2	ORPHA:244
HP:0032101	Unusual infection	10312	TCIRG1	ORPHA:486
HP:0032101	Unusual infection	1991	ELANE	ORPHA:486
HP:0032101	Unusual infection	2672	GFI1	ORPHA:486
HP:0032101	Unusual infection	6729	SRP54	ORPHA:486
HP:0032101	Unusual infection	81570	CLPB	ORPHA:486
HP:0032101	Unusual infection	23495	TNFRSF13B	OMIM:609529
HP:0032101	Unusual infection	7037	TFRC	OMIM:616740
HP:0032101	Unusual infection	60468	BACH2	OMIM:618394
HP:0032101	Unusual infection	23545	ATP6V0A2	ORPHA:2834
HP:0032101	Unusual infection	4790	NFKB1	OMIM:616576
HP:0032101	Unusual infection	841	CASP8	OMIM:607271
HP:0032101	Unusual infection	5336	PLCG2	OMIM:614878
HP:0032101	Unusual infection	5336	PLCG2	OMIM:614468
HP:0032101	Unusual infection	5293	PIK3CD	OMIM:615513
HP:0032101	Unusual infection	56259	CTNNBL1	OMIM:619846
HP:0032101	Unusual infection	5294	PIK3CG	OMIM:619802
HP:0032101	Unusual infection	4683	NBN	ORPHA:647
HP:0032101	Unusual infection	2859	GPR35	ORPHA:171
HP:0032101	Unusual infection	10507	SEMA4D	ORPHA:171
HP:0032101	Unusual infection	4485	MST1	ORPHA:171
HP:0032101	Unusual infection	6925	TCF4	ORPHA:171
HP:0032101	Unusual infection	3476	IGBP1	OMIM:300472
HP:0032101	Unusual infection	4921	DDR2	OMIM:271665
HP:0032101	Unusual infection	3763	KCNJ6	ORPHA:435628
HP:0032101	Unusual infection	3763	KCNJ6	OMIM:614098
HP:0032101	Unusual infection	5351	PLOD1	OMIM:225400
HP:0032101	Unusual infection	5351	PLOD1	ORPHA:1900
HP:0032101	Unusual infection	6477	SIAH1	OMIM:619314
HP:0032101	Unusual infection	8425	LTBP4	OMIM:613177
HP:0032101	Unusual infection	11133	KPTN	OMIM:615637
HP:0032101	Unusual infection	11133	KPTN	ORPHA:397612
HP:0032101	Unusual infection	57539	WDR35	OMIM:613610
HP:0032101	Unusual infection	81857	MED25	OMIM:616449
HP:0032101	Unusual infection	81857	MED25	ORPHA:464738
HP:0032101	Unusual infection	755	CFAP410	OMIM:602271
HP:0032101	Unusual infection	126792	B3GALT6	OMIM:609465
HP:0032101	Unusual infection	6720	SREBF1	OMIM:158310
HP:0032101	Unusual infection	1302	COL11A2	OMIM:215150
HP:0032101	Unusual infection	10157	AASS	ORPHA:2203
HP:0032101	Unusual infection	6440	SFTPC	OMIM:610913
HP:0032101	Unusual infection	3417	IDH1	ORPHA:99646
HP:0032101	Unusual infection	6904	TBCD	ORPHA:496641
HP:0032101	Unusual infection	7084	TK2	ORPHA:254875
HP:0032101	Unusual infection	8792	TNFRSF11A	OMIM:612301
HP:0032101	Unusual infection	7080	NKX2-1	ORPHA:209905
HP:0032101	Unusual infection	54681	P4HTM	OMIM:618493
HP:0032101	Unusual infection	23594	ORC6	OMIM:613803
HP:0032101	Unusual infection	26040	SETBP1	ORPHA:798
HP:0032101	Unusual infection	2074	ERCC6	OMIM:214150
HP:0032101	Unusual infection	2328	FMO3	OMIM:602079
HP:0032101	Unusual infection	4796	TONSL	ORPHA:93357
HP:0032101	Unusual infection	5317	PKP1	ORPHA:158668
HP:0032101	Unusual infection	54941	RNF125	OMIM:616260
HP:0032101	Unusual infection	10747	MASP2	OMIM:613791
HP:0032101	Unusual infection	57728	WDR19	OMIM:614378
HP:0032101	Unusual infection	871	SERPINH1	OMIM:613848
HP:0032101	Unusual infection	55294	FBXW7	OMIM:620012
HP:0032101	Unusual infection	5813	PURA	ORPHA:314655
HP:0032101	Unusual infection	65082	VPS33A	OMIM:617303
HP:0032101	Unusual infection	2212	FCGR2A	OMIM:219700
HP:0032101	Unusual infection	28956	LAMTOR2	OMIM:610798
HP:0032101	Unusual infection	28956	LAMTOR2	ORPHA:90023
HP:0032101	Unusual infection	404672	GTF2H5	ORPHA:33364
HP:0032101	Unusual infection	833	CARS1	ORPHA:33364
HP:0032101	Unusual infection	2068	ERCC2	ORPHA:33364
HP:0032101	Unusual infection	7737	RNF113A	ORPHA:33364
HP:0032101	Unusual infection	136647	MPLKIP	ORPHA:33364
HP:0032101	Unusual infection	6897	TARS1	ORPHA:33364
HP:0032101	Unusual infection	2071	ERCC3	ORPHA:33364
HP:0032101	Unusual infection	2961	GTF2E2	ORPHA:33364
HP:0032101	Unusual infection	55343	SLC35C1	ORPHA:99843
HP:0032101	Unusual infection	326	AIRE	OMIM:240300
HP:0032101	Unusual infection	9948	WDR1	OMIM:150550
HP:0032101	Unusual infection	85452	CFAP74	OMIM:620197
HP:0032101	Unusual infection	1290	COL5A2	OMIM:130010
HP:0032101	Unusual infection	10625	IVNS1ABP	OMIM:618969
HP:0032101	Unusual infection	4194	MDM4	OMIM:618849
HP:0032101	Unusual infection	165918	RNF168	ORPHA:420741
HP:0032101	Unusual infection	718	C3	OMIM:613779
HP:0032101	Unusual infection	8737	RIPK1	OMIM:618852
HP:0032101	Unusual infection	4644	MYO5A	OMIM:214450
HP:0032101	Unusual infection	90268	OTULIN	OMIM:619986
HP:0032101	Unusual infection	55851	PSENEN	OMIM:613736
HP:0032101	Unusual infection	5663	PSEN1	OMIM:613737
HP:0032101	Unusual infection	3460	IFNGR2	OMIM:614889
HP:0032101	Unusual infection	84196	USP48	ORPHA:96253
HP:0032101	Unusual infection	7157	TP53	ORPHA:96253
HP:0032101	Unusual infection	9101	USP8	ORPHA:96253
HP:0032101	Unusual infection	64072	CDH23	ORPHA:96253
HP:0032101	Unusual infection	2908	NR3C1	ORPHA:96253
HP:0032101	Unusual infection	673	BRAF	ORPHA:96253
HP:0032101	Unusual infection	65055	REEP1	OMIM:620011
HP:0032101	Unusual infection	5339	PLEC	ORPHA:254361
HP:0032101	Unusual infection	5832	ALDH18A1	ORPHA:90348
HP:0032101	Unusual infection	6890	TAP1	OMIM:604571
HP:0032101	Unusual infection	6891	TAP2	OMIM:604571
HP:0032101	Unusual infection	6892	TAPBP	OMIM:604571
HP:0032101	Unusual infection	2629	GBA1	OMIM:230900
HP:0032101	Unusual infection	23534	TNPO3	ORPHA:186
HP:0032101	Unusual infection	6689	SPIB	ORPHA:186
HP:0032101	Unusual infection	5450	POU2AF1	ORPHA:186
HP:0032101	Unusual infection	9966	TNFSF15	ORPHA:186
HP:0032101	Unusual infection	79258	MMEL1	ORPHA:186
HP:0032101	Unusual infection	3663	IRF5	ORPHA:186
HP:0032101	Unusual infection	121214	SDR9C7	OMIM:617574
HP:0032101	Unusual infection	3848	KRT1	ORPHA:530838
HP:0032101	Unusual infection	79415	CYBC1	OMIM:618935
HP:0032101	Unusual infection	545	ATR	OMIM:614564
HP:0032101	Unusual infection	3248	HPGD	ORPHA:217059
HP:0032101	Unusual infection	3661	IRF3	OMIM:616532
HP:0032101	Unusual infection	148022	TICAM1	OMIM:614850
HP:0032101	Unusual infection	7187	TRAF3	OMIM:614849
HP:0032101	Unusual infection	677814	SNORA31	OMIM:619396
HP:0032101	Unusual infection	5184	PEPD	ORPHA:742
HP:0032101	Unusual infection	85358	SHANK3	ORPHA:48652
HP:0032101	Unusual infection	3702	ITK	OMIM:613011
HP:0032101	Unusual infection	50619	DEF6	OMIM:619573
HP:0032101	Unusual infection	22806	IKZF3	OMIM:619437
HP:0032101	Unusual infection	5238	PGM3	OMIM:615816
HP:0032101	Unusual infection	84876	ORAI1	OMIM:612782
HP:0032101	Unusual infection	3394	IRF8	OMIM:614893
HP:0032101	Unusual infection	3394	IRF8	OMIM:226990
HP:0032101	Unusual infection	84888	SPPL2A	OMIM:619549
HP:0032101	Unusual infection	2214	FCGR3A	OMIM:615707
HP:0032101	Unusual infection	64421	DCLRE1C	OMIM:602450
HP:0032101	Unusual infection	3593	IL12B	OMIM:614890
HP:0032101	Unusual infection	6097	RORC	OMIM:616622
HP:0032101	Unusual infection	3458	IFNG	OMIM:618963
HP:0032101	Unusual infection	30009	TBX21	OMIM:619630
HP:0032101	Unusual infection	5966	REL	OMIM:619652
HP:0032101	Unusual infection	3594	IL12RB1	ORPHA:319552
HP:0032101	Unusual infection	3454	IFNAR1	OMIM:619935
HP:0032101	Unusual infection	6773	STAT2	OMIM:616636
HP:0032101	Unusual infection	3455	IFNAR2	OMIM:616669
HP:0032101	Unusual infection	6929	TCF3	OMIM:616941
HP:0032101	Unusual infection	1130	LYST	ORPHA:167
HP:0032101	Unusual infection	51135	IRAK4	OMIM:607676
HP:0032101	Unusual infection	3574	IL7	OMIM:618309
HP:0032101	Unusual infection	147138	TMC8	OMIM:618231
HP:0032101	Unusual infection	94	ACVRL1	OMIM:600376
HP:0032101	Unusual infection	2022	ENG	OMIM:187300
HP:0032101	Unusual infection	5371	PML	ORPHA:520
HP:0032101	Unusual infection	5914	RARA	ORPHA:520
HP:0032101	Unusual infection	359948	IRF2BP2	ORPHA:520
HP:0032101	Unusual infection	81608	FIP1L1	ORPHA:520
HP:0032101	Unusual infection	4869	NPM1	ORPHA:520
HP:0032101	Unusual infection	5573	PRKAR1A	ORPHA:520
HP:0032101	Unusual infection	54880	BCOR	ORPHA:520
HP:0032101	Unusual infection	64859	NABP1	ORPHA:520
HP:0032101	Unusual infection	6777	STAT5B	ORPHA:520
HP:0032101	Unusual infection	4926	NUMA1	ORPHA:520
HP:0032101	Unusual infection	7704	ZBTB16	ORPHA:520
HP:0032101	Unusual infection	79718	TBL1XR1	ORPHA:520
HP:0032101	Unusual infection	1186	CLCN7	ORPHA:210110
HP:0032101	Unusual infection	9842	PLEKHM1	ORPHA:210110
HP:0032101	Unusual infection	590	BCHE	ORPHA:132
HP:0032101	Unusual infection	3043	HBB	ORPHA:231226
HP:0032101	Unusual infection	3043	HBB	ORPHA:231214
HP:0032101	Unusual infection	6208	RPS14	ORPHA:86841
HP:0032101	Unusual infection	54790	TET2	ORPHA:75564
HP:0032101	Unusual infection	23451	SF3B1	ORPHA:75564
HP:0032101	Unusual infection	135	ADORA2A	ORPHA:363549
HP:0032101	Unusual infection	9636	ISG15	OMIM:616126
HP:0032101	Unusual infection	51284	TLR7	OMIM:301051
HP:0032101	Unusual infection	84433	CARD11	OMIM:617638
HP:0032101	Unusual infection	55388	MCM10	OMIM:619313
HP:0032101	Unusual infection	1777	DNASE2	OMIM:619858
HP:0032101	Unusual infection	4598	MVK	OMIM:260920
HP:0032101	Unusual infection	53335	BCL11A	ORPHA:251380
HP:0032101	Unusual infection	10661	KLF1	ORPHA:251380
HP:0032101	Unusual infection	3047	HBG1	ORPHA:251380
HP:0032101	Unusual infection	3048	HBG2	ORPHA:251380
HP:0032101	Unusual infection	4204	MECP2	OMIM:300260
HP:0032101	Unusual infection	970	CD70	OMIM:618261
HP:0032101	Unusual infection	27040	LAT	OMIM:617514
HP:0032101	Unusual infection	84061	MAGT1	OMIM:300853
HP:0032101	Unusual infection	1503	CTPS1	OMIM:615897
HP:0032101	Unusual infection	219972	MPEG1	OMIM:619223
HP:0032101	Unusual infection	64170	CARD9	OMIM:212050
HP:0032101	Unusual infection	939	CD27	OMIM:615122
HP:0032101	Unusual infection	51163	DBR1	OMIM:619441
HP:0032101	Unusual infection	3665	IRF7	OMIM:616345
HP:0032101	Unusual infection	3579	CXCR2	OMIM:619407
HP:0032101	Unusual infection	10621	POLR3F	OMIM:619872
HP:0032101	Unusual infection	2070	EYA4	ORPHA:217622
HP:0032101	Unusual infection	23149	FCHO1	OMIM:619164
HP:0032101	Unusual infection	26191	PTPN22	ORPHA:397
HP:0032101	Unusual infection	3123	HLA-DRB1	ORPHA:397
HP:0032101	Unusual infection	8974	P4HA2	ORPHA:397
HP:0032101	Unusual infection	4791	NFKB2	ORPHA:293978
HP:0032101	Unusual infection	55315	SLC29A3	ORPHA:168569
HP:0032101	Unusual infection	7132	TNFRSF1A	ORPHA:32960
HP:0032101	Unusual infection	79087	ALG12	ORPHA:79324
HP:0032101	Unusual infection	3937	LCP2	OMIM:619374
HP:0032101	Unusual infection	7319	UBE2A	ORPHA:163956
HP:0032101	Unusual infection	2737	GLI3	ORPHA:672
HP:0032101	Unusual infection	5896	RAG1	ORPHA:331206
HP:0032101	Unusual infection	5897	RAG2	ORPHA:331206
HP:0032101	Unusual infection	4247	MGAT2	ORPHA:79329
HP:0032101	Unusual infection	8239	USP9X	ORPHA:480880
HP:0032101	Unusual infection	57379	AICDA	OMIM:605258
HP:0032101	Unusual infection	7374	UNG	OMIM:608106
HP:0032101	Unusual infection	29969	MDFIC	OMIM:620014
HP:0032101	Unusual infection	55777	MBD5	OMIM:156200
HP:0032101	Unusual infection	1650	DDOST	ORPHA:300536
HP:0032101	Unusual infection	1650	DDOST	OMIM:614507
HP:0032101	Unusual infection	6711	SPTBN1	OMIM:619475
HP:0032101	Unusual infection	4953	ODC1	ORPHA:544488
HP:0032101	Unusual infection	9338	TCEAL1	OMIM:301094
HP:0032101	Unusual infection	2273	FHL1	OMIM:300280
HP:0032104	Saccadic oscillation	84978	FRMD5	OMIM:620094
HP:0032104	Saccadic oscillation	23095	KIF1B	OMIM:256700
HP:0032104	Saccadic oscillation	339453	TMEM240	OMIM:607454
HP:0032104	Saccadic oscillation	2629	GBA1	ORPHA:2072
HP:0032104	Saccadic oscillation	10312	TCIRG1	ORPHA:667
HP:0032104	Saccadic oscillation	1186	CLCN7	ORPHA:667
HP:0032104	Saccadic oscillation	29887	SNX10	ORPHA:667
HP:0032104	Saccadic oscillation	8600	TNFSF11	ORPHA:667
HP:0032104	Saccadic oscillation	6531	SLC6A3	OMIM:613135
HP:0032104	Saccadic oscillation	773	CACNA1A	ORPHA:2131
HP:0032104	Saccadic oscillation	6507	SLC1A3	ORPHA:2131
HP:0032104	Saccadic oscillation	477	ATP1A2	ORPHA:2131
HP:0032104	Saccadic oscillation	478	ATP1A3	ORPHA:2131
HP:0032104	Saccadic oscillation	7355	SLC35A2	OMIM:300896
HP:0032104	Saccadic oscillation	55187	VPS13D	OMIM:607317
HP:0032105	Macrosaccadic oscillations	55187	VPS13D	OMIM:607317
HP:0032106	Conjunctival icterus	2271	FH	OMIM:606812
HP:0032106	Conjunctival icterus	197131	UBR1	OMIM:243800
HP:0032106	Conjunctival icterus	28234	SLCO1B3	ORPHA:3111
HP:0032106	Conjunctival icterus	10599	SLCO1B1	ORPHA:3111
HP:0032106	Conjunctival icterus	9780	PIEZO1	OMIM:194380
HP:0032106	Conjunctival icterus	5314	PKHD1	ORPHA:53035
HP:0032106	Conjunctival icterus	5277	PIGA	ORPHA:447
HP:0032107	Limbal stem cell deficiency	22861	NLRP1	OMIM:615225
HP:0032107	Limbal stem cell deficiency	10804	GJB6	ORPHA:477
HP:0032107	Limbal stem cell deficiency	2706	GJB2	ORPHA:477
HP:0032107	Limbal stem cell deficiency	5080	PAX6	ORPHA:2334
HP:0032107	Limbal stem cell deficiency	2263	FGFR2	OMIM:149730
HP:0032107	Limbal stem cell deficiency	2263	FGFR2	ORPHA:2363
HP:0032107	Limbal stem cell deficiency	2261	FGFR3	ORPHA:2363
HP:0032107	Limbal stem cell deficiency	2255	FGF10	ORPHA:2363
HP:0032107	Limbal stem cell deficiency	4921	DDR2	OMIM:618175
HP:0009768	Broad phalanges of the hand	2317	FLNB	OMIM:150250
HP:0009768	Broad phalanges of the hand	64135	IFIH1	OMIM:182250
HP:0009768	Broad phalanges of the hand	7700	ZNF141	OMIM:615226
HP:0009768	Broad phalanges of the hand	2316	FLNA	OMIM:311300
HP:0009768	Broad phalanges of the hand	2263	FGFR2	OMIM:101200
HP:0009768	Broad phalanges of the hand	3239	HOXD13	OMIM:113200
HP:0009768	Broad phalanges of the hand	2137	EXTL3	ORPHA:508533
HP:0009768	Broad phalanges of the hand	2200	FBN1	OMIM:608328
HP:0009768	Broad phalanges of the hand	81794	ADAMTS10	OMIM:277600
HP:0009768	Broad phalanges of the hand	9949	AMMECR1	OMIM:300990
HP:0009768	Broad phalanges of the hand	9653	HS2ST1	OMIM:619194
HP:0009768	Broad phalanges of the hand	3835	KIF22	OMIM:603546
HP:0009768	Broad phalanges of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0009768	Broad phalanges of the hand	126792	B3GALT6	OMIM:609465
HP:0009768	Broad phalanges of the hand	126792	B3GALT6	OMIM:271640
HP:0009768	Broad phalanges of the hand	55209	SETD5	ORPHA:404440
HP:0009768	Broad phalanges of the hand	55209	SETD5	OMIM:615761
HP:0009768	Broad phalanges of the hand	57459	GATAD2B	ORPHA:363686
HP:0009768	Broad phalanges of the hand	6595	SMARCA2	OMIM:601358
HP:0009768	Broad phalanges of the hand	6595	SMARCA2	ORPHA:3051
HP:0009768	Broad phalanges of the hand	633	BGN	OMIM:300989
HP:0009768	Broad phalanges of the hand	57728	WDR19	OMIM:614378
HP:0009768	Broad phalanges of the hand	79971	WLS	OMIM:619648
HP:0009768	Broad phalanges of the hand	388015	RTL1	ORPHA:96334
HP:0009768	Broad phalanges of the hand	8788	DLK1	ORPHA:96334
HP:0009768	Broad phalanges of the hand	55384	MEG3	ORPHA:96334
HP:0009768	Broad phalanges of the hand	25871	NEPRO	OMIM:618853
HP:0009768	Broad phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009768	Broad phalanges of the hand	5293	PIK3CD	ORPHA:221139
HP:0009768	Broad phalanges of the hand	90417	KNSTRN	ORPHA:221139
HP:0009768	Broad phalanges of the hand	6792	CDKL5	ORPHA:505652
HP:0009768	Broad phalanges of the hand	9469	CHST3	OMIM:245600
HP:0009768	Broad phalanges of the hand	26229	B3GAT3	OMIM:245600
HP:0009768	Broad phalanges of the hand	55764	IFT122	OMIM:218330
HP:0009768	Broad phalanges of the hand	2778	GNAS	ORPHA:79443
HP:0009768	Broad phalanges of the hand	7291	TWIST1	ORPHA:794
HP:0009768	Broad phalanges of the hand	7291	TWIST1	OMIM:180750
HP:0009768	Broad phalanges of the hand	2261	FGFR3	ORPHA:794
HP:0009768	Broad phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0009768	Broad phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009768	Broad phalanges of the hand	2737	GLI3	ORPHA:672
HP:0009768	Broad phalanges of the hand	2737	GLI3	ORPHA:380
HP:0009768	Broad phalanges of the hand	2737	GLI3	OMIM:175700
HP:0009768	Broad phalanges of the hand	2737	GLI3	OMIM:174200
HP:0009768	Broad phalanges of the hand	22827	PUF60	ORPHA:508498
HP:0009768	Broad phalanges of the hand	23394	ADNP	ORPHA:404448
HP:0009768	Broad phalanges of the hand	6910	TBX5	ORPHA:392
HP:0009768	Broad phalanges of the hand	6477	SIAH1	OMIM:619314
HP:0009768	Broad phalanges of the hand	10059	DNM1L	OMIM:614388
HP:0009768	Broad phalanges of the hand	6885	MAP3K7	OMIM:617137
HP:0009768	Broad phalanges of the hand	6885	MAP3K7	ORPHA:1826
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:251028
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:251019
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:576283
HP:0009768	Broad phalanges of the hand	9241	NOG	OMIM:184460
HP:0009768	Broad phalanges of the hand	9241	NOG	ORPHA:3237
HP:0009768	Broad phalanges of the hand	6299	SALL1	OMIM:107480
HP:0009768	Broad phalanges of the hand	6299	SALL1	ORPHA:857
HP:0009768	Broad phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0009768	Broad phalanges of the hand	1387	CREBBP	ORPHA:353281
HP:0009768	Broad phalanges of the hand	1387	CREBBP	OMIM:180849
HP:0009768	Broad phalanges of the hand	1387	CREBBP	ORPHA:353277
HP:0009768	Broad phalanges of the hand	650	BMP2	ORPHA:261295
HP:0009768	Broad phalanges of the hand	3020	H3-3A	OMIM:619720
HP:0009768	Broad phalanges of the hand	29998	BICRA	OMIM:619325
HP:0009768	Broad phalanges of the hand	3021	H3-3B	OMIM:619721
HP:0009768	Broad phalanges of the hand	4920	ROR2	OMIM:113000
HP:0009768	Broad phalanges of the hand	4920	ROR2	ORPHA:1507
HP:0009768	Broad phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009768	Broad phalanges of the hand	1855	DVL1	OMIM:616331
HP:0009768	Broad phalanges of the hand	1855	DVL1	OMIM:180700
HP:0009768	Broad phalanges of the hand	8239	USP9X	OMIM:300919
HP:0009768	Broad phalanges of the hand	2033	EP300	ORPHA:353284
HP:0009768	Broad phalanges of the hand	2033	EP300	OMIM:180849
HP:0009768	Broad phalanges of the hand	2033	EP300	OMIM:613684
HP:0009768	Broad phalanges of the hand	3248	HPGD	ORPHA:217059
HP:0009768	Broad phalanges of the hand	176	ACAN	OMIM:612813
HP:0009768	Broad phalanges of the hand	176	ACAN	ORPHA:171866
HP:0009768	Broad phalanges of the hand	2239	GPC4	OMIM:301026
HP:0009768	Broad phalanges of the hand	2239	GPC4	ORPHA:2662
HP:0009768	Broad phalanges of the hand	2239	GPC4	ORPHA:373
HP:0009768	Broad phalanges of the hand	2239	GPC4	OMIM:312870
HP:0009768	Broad phalanges of the hand	51132	RLIM	OMIM:300978
HP:0009768	Broad phalanges of the hand	64359	NXN	OMIM:618529
HP:0009768	Broad phalanges of the hand	64359	NXN	ORPHA:1507
HP:0009768	Broad phalanges of the hand	92579	G6PC3	OMIM:612541
HP:0009768	Broad phalanges of the hand	64131	XYLT1	OMIM:615777
HP:0009768	Broad phalanges of the hand	64131	XYLT1	ORPHA:370930
HP:0009768	Broad phalanges of the hand	29920	PYCR2	ORPHA:481152
HP:0009768	Broad phalanges of the hand	2260	FGFR1	ORPHA:93258
HP:0009768	Broad phalanges of the hand	2260	FGFR1	OMIM:166250
HP:0009768	Broad phalanges of the hand	2260	FGFR1	OMIM:101600
HP:0009768	Broad phalanges of the hand	64093	SMOC1	ORPHA:1106
HP:0009768	Broad phalanges of the hand	2626	GATA4	ORPHA:251071
HP:0009768	Broad phalanges of the hand	8726	EED	OMIM:617561
HP:0009768	Broad phalanges of the hand	8726	EED	ORPHA:3447
HP:0009768	Broad phalanges of the hand	5718	PSMD12	ORPHA:529962
HP:0009768	Broad phalanges of the hand	2186	BPTF	ORPHA:529962
HP:0009768	Broad phalanges of the hand	4212	MEIS2	OMIM:600987
HP:0009768	Broad phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009768	Broad phalanges of the hand	1954	MEGF8	ORPHA:65759
HP:0009768	Broad phalanges of the hand	51715	RAB23	ORPHA:65759
HP:0009768	Broad phalanges of the hand	5728	PTEN	ORPHA:79076
HP:0009768	Broad phalanges of the hand	5728	PTEN	ORPHA:109
HP:0009768	Broad phalanges of the hand	657	BMPR1A	ORPHA:79076
HP:0009768	Broad phalanges of the hand	8200	GDF5	ORPHA:3237
HP:0009768	Broad phalanges of the hand	2254	FGF9	ORPHA:3237
HP:0009768	Broad phalanges of the hand	2254	FGF9	OMIM:612961
HP:0009768	Broad phalanges of the hand	3981	LIG4	ORPHA:235
HP:0009768	Broad phalanges of the hand	54888	NSUN2	ORPHA:235
HP:0009768	Broad phalanges of the hand	6608	SMO	OMIM:601707
HP:0009768	Broad phalanges of the hand	6608	SMO	ORPHA:1553
HP:0009768	Broad phalanges of the hand	23126	POGZ	OMIM:616364
HP:0009768	Broad phalanges of the hand	51633	OTUD6B	OMIM:617452
HP:0009768	Broad phalanges of the hand	51633	OTUD6B	ORPHA:505237
HP:0009768	Broad phalanges of the hand	5593	PRKG2	OMIM:619638
HP:0009768	Broad phalanges of the hand	79753	SNIP1	OMIM:614501
HP:0009768	Broad phalanges of the hand	9968	MED12	OMIM:309520
HP:0009768	Broad phalanges of the hand	9968	MED12	OMIM:305450
HP:0009768	Broad phalanges of the hand	80036	TRPM3	OMIM:620224
HP:0009768	Broad phalanges of the hand	285362	SUMF1	OMIM:272200
HP:0009768	Broad phalanges of the hand	285362	SUMF1	ORPHA:585
HP:0009768	Broad phalanges of the hand	79759	ZNF668	OMIM:620194
HP:0009768	Broad phalanges of the hand	10236	HNRNPR	OMIM:620073
HP:0009768	Broad phalanges of the hand	284252	KCTD1	OMIM:181270
HP:0009768	Broad phalanges of the hand	1857	DVL3	OMIM:616894
HP:0009768	Broad phalanges of the hand	8481	OFD1	OMIM:300209
HP:0009768	Broad phalanges of the hand	56098	PCDHGC4	OMIM:619880
HP:0009768	Broad phalanges of the hand	51339	DACT1	ORPHA:857
HP:0009768	Broad phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009768	Broad phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0009768	Broad phalanges of the hand	2719	GPC3	ORPHA:373
HP:0009768	Broad phalanges of the hand	2719	GPC3	OMIM:312870
HP:0009768	Broad phalanges of the hand	4123	MAN2C1	OMIM:619775
HP:0009768	Broad phalanges of the hand	4488	MSX2	ORPHA:60015
HP:0009768	Broad phalanges of the hand	60529	ALX4	ORPHA:60015
HP:0009768	Broad phalanges of the hand	79989	IFT56	OMIM:619534
HP:0009768	Broad phalanges of the hand	2146	EZH2	OMIM:277590
HP:0009768	Broad phalanges of the hand	2146	EZH2	ORPHA:3447
HP:0009768	Broad phalanges of the hand	9939	RBM8A	ORPHA:3320
HP:0009768	Broad phalanges of the hand	9939	RBM8A	OMIM:274000
HP:0009768	Broad phalanges of the hand	7474	WNT5A	OMIM:180700
HP:0009768	Broad phalanges of the hand	64324	NSD1	ORPHA:3447
HP:0009768	Broad phalanges of the hand	23512	SUZ12	ORPHA:3447
HP:0009768	Broad phalanges of the hand	23404	EXOSC2	OMIM:617763
HP:0009768	Broad phalanges of the hand	5587	PRKD1	OMIM:617364
HP:0009768	Broad phalanges of the hand	2702	GJA5	OMIM:612474
HP:0009768	Broad phalanges of the hand	2703	GJA8	OMIM:612474
HP:0009768	Broad phalanges of the hand	3636	INPPL1	ORPHA:2746
HP:0009768	Broad phalanges of the hand	55690	PACS1	ORPHA:329224
HP:0009768	Broad phalanges of the hand	22907	DHX30	OMIM:617804
HP:0009768	Broad phalanges of the hand	865	CBFB	OMIM:620099
HP:0006261	Abnormal phalangeal joint morphology of the hand	64093	SMOC1	OMIM:206920
HP:0006261	Abnormal phalangeal joint morphology of the hand	64093	SMOC1	ORPHA:1106
HP:0006261	Abnormal phalangeal joint morphology of the hand	91179	SCARF2	OMIM:600920
HP:0006261	Abnormal phalangeal joint morphology of the hand	8838	CCN6	ORPHA:1159
HP:0006261	Abnormal phalangeal joint morphology of the hand	4088	SMAD3	ORPHA:284984
HP:0006261	Abnormal phalangeal joint morphology of the hand	4148	MATN3	ORPHA:93311
HP:0006261	Abnormal phalangeal joint morphology of the hand	59341	TRPV4	ORPHA:85169
HP:0006261	Abnormal phalangeal joint morphology of the hand	55628	ZNF407	OMIM:619557
HP:0006261	Abnormal phalangeal joint morphology of the hand	23219	FBXO28	OMIM:619777
HP:0006261	Abnormal phalangeal joint morphology of the hand	84265	POLR3GL	OMIM:619234
HP:0006261	Abnormal phalangeal joint morphology of the hand	29072	SETD2	ORPHA:821
HP:0006261	Abnormal phalangeal joint morphology of the hand	10297	APC2	ORPHA:821
HP:0006261	Abnormal phalangeal joint morphology of the hand	51305	KCNK9	ORPHA:166108
HP:0006261	Abnormal phalangeal joint morphology of the hand	22880	MORC2	ORPHA:466768
HP:0006261	Abnormal phalangeal joint morphology of the hand	825	CAPN3	ORPHA:267
HP:0006261	Abnormal phalangeal joint morphology of the hand	113179	ADAT3	ORPHA:363528
HP:0006261	Abnormal phalangeal joint morphology of the hand	7043	TGFB3	OMIM:615582
HP:0006261	Abnormal phalangeal joint morphology of the hand	1280	COL2A1	ORPHA:166011
HP:0006261	Abnormal phalangeal joint morphology of the hand	57167	SALL4	OMIM:147750
HP:0006261	Abnormal phalangeal joint morphology of the hand	54332	GDAP1	ORPHA:99948
HP:0006261	Abnormal phalangeal joint morphology of the hand	2254	FGF9	OMIM:612961
HP:0006261	Abnormal phalangeal joint morphology of the hand	79158	GNPTAB	OMIM:252600
HP:0006261	Abnormal phalangeal joint morphology of the hand	7994	KAT6A	OMIM:616268
HP:0006261	Abnormal phalangeal joint morphology of the hand	7466	WFS1	OMIM:222300
HP:0006261	Abnormal phalangeal joint morphology of the hand	6399	TRAPPC2	ORPHA:93284
HP:0006261	Abnormal phalangeal joint morphology of the hand	54829	ASPN	OMIM:607850
HP:0006261	Abnormal phalangeal joint morphology of the hand	7703	PCGF2	OMIM:618371
HP:0006261	Abnormal phalangeal joint morphology of the hand	6595	SMARCA2	OMIM:601358
HP:0006261	Abnormal phalangeal joint morphology of the hand	6597	SMARCA4	OMIM:614609
HP:0006261	Abnormal phalangeal joint morphology of the hand	83452	RAB33B	OMIM:615222
HP:0006261	Abnormal phalangeal joint morphology of the hand	6583	SLC22A4	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	26191	PTPN22	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4261	CIITA	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	51744	CD244	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4795	NFKBIL1	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	3586	IL10	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4313	MMP2	OMIM:259600
HP:0006261	Abnormal phalangeal joint morphology of the hand	3861	KRT14	ORPHA:69087
HP:0006261	Abnormal phalangeal joint morphology of the hand	1080	CFTR	ORPHA:498359
HP:0006261	Abnormal phalangeal joint morphology of the hand	10765	KDM5B	OMIM:618109
HP:0006261	Abnormal phalangeal joint morphology of the hand	9487	PIGL	OMIM:280000
HP:0006261	Abnormal phalangeal joint morphology of the hand	10093	ARPC4	OMIM:620141
HP:0006261	Abnormal phalangeal joint morphology of the hand	11011	TLK2	OMIM:618050
HP:0006261	Abnormal phalangeal joint morphology of the hand	80816	ASXL3	OMIM:615485
HP:0006261	Abnormal phalangeal joint morphology of the hand	81857	MED25	ORPHA:464738
HP:0006261	Abnormal phalangeal joint morphology of the hand	8243	SMC1A	OMIM:301044
HP:0006261	Abnormal phalangeal joint morphology of the hand	6909	TBX2	OMIM:618223
HP:0006261	Abnormal phalangeal joint morphology of the hand	1277	COL1A1	OMIM:130060
HP:0006261	Abnormal phalangeal joint morphology of the hand	6134	RPL10	OMIM:300998
HP:0006261	Abnormal phalangeal joint morphology of the hand	23327	NEDD4L	OMIM:617201
HP:0006261	Abnormal phalangeal joint morphology of the hand	8985	PLOD3	OMIM:612394
HP:0006261	Abnormal phalangeal joint morphology of the hand	2218	FKTN	ORPHA:272
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:2053
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:2990
HP:0006261	Abnormal phalangeal joint morphology of the hand	259232	NALCN	ORPHA:2053
HP:0006261	Abnormal phalangeal joint morphology of the hand	259232	NALCN	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	8294	H4C9	OMIM:619951
HP:0006261	Abnormal phalangeal joint morphology of the hand	3094	HINT1	ORPHA:324442
HP:0006261	Abnormal phalangeal joint morphology of the hand	1947	EFNB1	ORPHA:1520
HP:0006261	Abnormal phalangeal joint morphology of the hand	7355	SLC35A2	ORPHA:356961
HP:0006261	Abnormal phalangeal joint morphology of the hand	118429	ANTXR2	ORPHA:2176
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	ORPHA:1529
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	ORPHA:896
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	OMIM:148820
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	OMIM:300244
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	ORPHA:90652
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	ORPHA:1826
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	OMIM:305620
HP:0006261	Abnormal phalangeal joint morphology of the hand	9241	NOG	ORPHA:3250
HP:0006261	Abnormal phalangeal joint morphology of the hand	8200	GDF5	ORPHA:3250
HP:0006261	Abnormal phalangeal joint morphology of the hand	54968	TMEM70	ORPHA:1194
HP:0006261	Abnormal phalangeal joint morphology of the hand	613	BCR	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	1399	CRKL	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	5594	MAPK1	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	84466	MEGF10	OMIM:614399
HP:0006261	Abnormal phalangeal joint morphology of the hand	72	ACTG2	ORPHA:2604
HP:0006261	Abnormal phalangeal joint morphology of the hand	10216	PRG4	ORPHA:2848
HP:0006261	Abnormal phalangeal joint morphology of the hand	3508	IGHMBP2	OMIM:604320
HP:0006261	Abnormal phalangeal joint morphology of the hand	6926	TBX3	ORPHA:3138
HP:0006261	Abnormal phalangeal joint morphology of the hand	51360	MBTPS2	ORPHA:2273
HP:0006261	Abnormal phalangeal joint morphology of the hand	10381	TUBB3	OMIM:600638
HP:0006261	Abnormal phalangeal joint morphology of the hand	9469	CHST3	OMIM:143095
HP:0006261	Abnormal phalangeal joint morphology of the hand	3423	IDS	ORPHA:217085
HP:0006261	Abnormal phalangeal joint morphology of the hand	3423	IDS	ORPHA:217093
HP:0006261	Abnormal phalangeal joint morphology of the hand	64359	NXN	ORPHA:1507
HP:0006261	Abnormal phalangeal joint morphology of the hand	4920	ROR2	ORPHA:1507
HP:0006261	Abnormal phalangeal joint morphology of the hand	2697	GJA1	ORPHA:2710
HP:0006261	Abnormal phalangeal joint morphology of the hand	2697	GJA1	ORPHA:93404
HP:0006261	Abnormal phalangeal joint morphology of the hand	64127	NOD2	OMIM:186580
HP:0006261	Abnormal phalangeal joint morphology of the hand	64127	NOD2	ORPHA:90340
HP:0006261	Abnormal phalangeal joint morphology of the hand	6999	TDO2	OMIM:600627
HP:0006261	Abnormal phalangeal joint morphology of the hand	1301	COL11A1	ORPHA:2021
HP:0006261	Abnormal phalangeal joint morphology of the hand	1302	COL11A2	ORPHA:2021
HP:0006261	Abnormal phalangeal joint morphology of the hand	10716	TBR1	ORPHA:1617
HP:0006261	Abnormal phalangeal joint morphology of the hand	3425	IDUA	OMIM:607015
HP:0006261	Abnormal phalangeal joint morphology of the hand	3425	IDUA	ORPHA:93473
HP:0006261	Abnormal phalangeal joint morphology of the hand	4593	MUSK	OMIM:208150
HP:0006261	Abnormal phalangeal joint morphology of the hand	4593	MUSK	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	OMIM:114300
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	ORPHA:376
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	ORPHA:2461
HP:0006261	Abnormal phalangeal joint morphology of the hand	56006	SMG9	OMIM:616920
HP:0006261	Abnormal phalangeal joint morphology of the hand	1857	DVL3	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	7474	WNT5A	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	1855	DVL1	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	2535	FZD2	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	9508	ADAMTS3	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	147372	CCBE1	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	79633	FAT4	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	5189	PEX1	ORPHA:3220
HP:0006261	Abnormal phalangeal joint morphology of the hand	5190	PEX6	ORPHA:3220
HP:0006261	Abnormal phalangeal joint morphology of the hand	5590	PRKCZ	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	2563	GABRD	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	23013	SPEN	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	8510	MMP23B	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	7798	LUZP1	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	6497	SKI	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	6497	SKI	ORPHA:2462
HP:0006261	Abnormal phalangeal joint morphology of the hand	10630	PDPN	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	3339	HSPG2	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	10277	UBE4B	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	8514	KCNAB2	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	473	RERE	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	63976	PRDM16	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	54897	CASZ1	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	9719	ADAMTSL2	OMIM:231050
HP:0006261	Abnormal phalangeal joint morphology of the hand	4952	OCRL	OMIM:309000
HP:0006261	Abnormal phalangeal joint morphology of the hand	8517	IKBKG	ORPHA:464
HP:0006261	Abnormal phalangeal joint morphology of the hand	10436	EMG1	ORPHA:1270
HP:0006261	Abnormal phalangeal joint morphology of the hand	57492	ARID1B	ORPHA:251056
HP:0006261	Abnormal phalangeal joint morphology of the hand	11128	POLR3A	ORPHA:3455
HP:0006261	Abnormal phalangeal joint morphology of the hand	2239	GPC4	ORPHA:373
HP:0006261	Abnormal phalangeal joint morphology of the hand	2719	GPC3	ORPHA:373
HP:0006261	Abnormal phalangeal joint morphology of the hand	55612	FERMT1	ORPHA:2908
HP:0006261	Abnormal phalangeal joint morphology of the hand	3977	LIFR	ORPHA:3206
HP:0006261	Abnormal phalangeal joint morphology of the hand	23483	TGDS	ORPHA:1388
HP:0006261	Abnormal phalangeal joint morphology of the hand	2260	FGFR1	OMIM:166250
HP:0006261	Abnormal phalangeal joint morphology of the hand	7140	TNNT3	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7169	TPM2	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7136	TNNI2	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7136	TNNI2	OMIM:601680
HP:0006261	Abnormal phalangeal joint morphology of the hand	4604	MYBPC1	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	6885	MAP3K7	ORPHA:1826
HP:0006261	Abnormal phalangeal joint morphology of the hand	117581	TWIST2	ORPHA:920
HP:0006261	Abnormal phalangeal joint morphology of the hand	64324	NSD1	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	8726	EED	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	23512	SUZ12	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	2146	EZH2	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	1723	DHODH	ORPHA:246
HP:0006261	Abnormal phalangeal joint morphology of the hand	257	ALX3	ORPHA:391474
HP:0006261	Abnormal phalangeal joint morphology of the hand	3239	HOXD13	OMIM:186300
HP:0006261	Abnormal phalangeal joint morphology of the hand	3239	HOXD13	ORPHA:93406
HP:0006261	Abnormal phalangeal joint morphology of the hand	54903	MKS1	OMIM:249000
HP:0006261	Abnormal phalangeal joint morphology of the hand	91252	SLC39A13	OMIM:612350
HP:0006261	Abnormal phalangeal joint morphology of the hand	22930	RAB3GAP1	OMIM:619420
HP:0006261	Abnormal phalangeal joint morphology of the hand	7046	TGFBR1	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	10526	IPO8	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	7048	TGFBR2	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	3897	L1CAM	ORPHA:2466
HP:0006261	Abnormal phalangeal joint morphology of the hand	2245	FGD1	ORPHA:915
HP:0006261	Abnormal phalangeal joint morphology of the hand	2200	FBN1	ORPHA:2462
HP:0006261	Abnormal phalangeal joint morphology of the hand	2201	FBN2	ORPHA:115
HP:0006261	Abnormal phalangeal joint morphology of the hand	7227	TRPS1	ORPHA:77258
HP:0006261	Abnormal phalangeal joint morphology of the hand	27238	GPKOW	ORPHA:2570
HP:0006261	Abnormal phalangeal joint morphology of the hand	10466	COG5	ORPHA:263487
HP:0006261	Abnormal phalangeal joint morphology of the hand	55315	SLC29A3	OMIM:602782
HP:0006261	Abnormal phalangeal joint morphology of the hand	23102	TBC1D2B	OMIM:619323
HP:0006261	Abnormal phalangeal joint morphology of the hand	2068	ERCC2	OMIM:610756
HP:0006261	Abnormal phalangeal joint morphology of the hand	2068	ERCC2	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	51114	ZDHHC9	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	65109	UPF3B	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	9968	MED12	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	2067	ERCC1	OMIM:610758
HP:0006261	Abnormal phalangeal joint morphology of the hand	2067	ERCC1	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	114548	NLRP3	ORPHA:575
HP:0006261	Abnormal phalangeal joint morphology of the hand	2074	ERCC6	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	2073	ERCC5	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	134701	RIPPLY2	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	10683	DLL3	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	3955	LFNG	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	84667	HES7	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	145873	MESP2	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	81620	CDT1	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	5000	ORC4	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	23594	ORC6	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	8318	CDC45	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	990	CDC6	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	4998	ORC1	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	51053	GMNN	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	8260	NAA10	ORPHA:568
HP:0006261	Abnormal phalangeal joint morphology of the hand	54880	BCOR	ORPHA:568
HP:0006261	Abnormal phalangeal joint morphology of the hand	64327	LMBR1	ORPHA:93405
HP:0006261	Abnormal phalangeal joint morphology of the hand	6469	SHH	ORPHA:93405
HP:0006261	Abnormal phalangeal joint morphology of the hand	4927	NUP88	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	7846	TUBA1A	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	4654	MYOD1	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	5913	RAPSN	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	6572	SLC18A3	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	285489	DOK7	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	3914	LAMB3	OMIM:226650
HP:0006261	Abnormal phalangeal joint morphology of the hand	9150	CTDP1	ORPHA:48431
HP:0006261	Abnormal phalangeal joint morphology of the hand	8092	ALX1	ORPHA:306542
HP:0006261	Abnormal phalangeal joint morphology of the hand	29895	MYL11	OMIM:619110
HP:0006261	Abnormal phalangeal joint morphology of the hand	64840	PORCN	ORPHA:2092
HP:0006261	Abnormal phalangeal joint morphology of the hand	23443	SLC35A3	OMIM:615553
HP:0006261	Abnormal phalangeal joint morphology of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0006261	Abnormal phalangeal joint morphology of the hand	1836	SLC26A2	ORPHA:628
HP:0006261	Abnormal phalangeal joint morphology of the hand	25914	RTTN	ORPHA:468631
HP:0006261	Abnormal phalangeal joint morphology of the hand	9935	MAFB	ORPHA:2774
HP:0006261	Abnormal phalangeal joint morphology of the hand	28952	CCDC22	OMIM:300963
HP:0006261	Abnormal phalangeal joint morphology of the hand	8450	CUL4B	ORPHA:85293
HP:0006261	Abnormal phalangeal joint morphology of the hand	1303	COL12A1	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1291	COL6A1	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1291	COL6A1	OMIM:158810
HP:0006261	Abnormal phalangeal joint morphology of the hand	1292	COL6A2	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1292	COL6A2	OMIM:158810
HP:0006261	Abnormal phalangeal joint morphology of the hand	1293	COL6A3	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1293	COL6A3	OMIM:158810
HP:0006261	Abnormal phalangeal joint morphology of the hand	26092	TOR1AIP1	OMIM:617072
HP:0006261	Abnormal phalangeal joint morphology of the hand	8242	KDM5C	ORPHA:85279
HP:0006261	Abnormal phalangeal joint morphology of the hand	2261	FGFR3	ORPHA:85164
HP:0006261	Abnormal phalangeal joint morphology of the hand	4000	LMNA	ORPHA:1662
HP:0006261	Abnormal phalangeal joint morphology of the hand	10269	ZMPSTE24	ORPHA:1662
HP:0006261	Abnormal phalangeal joint morphology of the hand	1146	CHRNG	ORPHA:2990
HP:0006261	Abnormal phalangeal joint morphology of the hand	23522	KAT6B	ORPHA:3047
HP:0006261	Abnormal phalangeal joint morphology of the hand	26123	TCTN3	ORPHA:2753
HP:0006261	Abnormal phalangeal joint morphology of the hand	64131	XYLT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	124583	CANT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	23529	CLCF1	ORPHA:1545
HP:0006261	Abnormal phalangeal joint morphology of the hand	9244	CRLF1	ORPHA:1545
HP:0006261	Abnormal phalangeal joint morphology of the hand	51002	TPRKB	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	84942	WDR73	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	55644	OSGEP	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	57122	NUP107	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	10785	WDR4	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	55746	NUP133	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	112858	TP53RK	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	8270	LAGE3	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	5696	PSMB8	OMIM:256040
HP:0006261	Abnormal phalangeal joint morphology of the hand	56916	SMARCAD1	ORPHA:1658
HP:0006262	Aplasia/Hypoplasia of the 5th finger	658	BMPR1B	OMIM:112600
HP:0006262	Aplasia/Hypoplasia of the 5th finger	658	BMPR1B	OMIM:616849
HP:0006262	Aplasia/Hypoplasia of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8200	GDF5	OMIM:112600
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8200	GDF5	OMIM:615072
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8200	GDF5	ORPHA:63442
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8200	GDF5	ORPHA:93396
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8200	GDF5	OMIM:113100
HP:0006262	Aplasia/Hypoplasia of the 5th finger	650	BMP2	OMIM:112600
HP:0006262	Aplasia/Hypoplasia of the 5th finger	650	BMP2	ORPHA:93396
HP:0006262	Aplasia/Hypoplasia of the 5th finger	4920	ROR2	OMIM:268310
HP:0006262	Aplasia/Hypoplasia of the 5th finger	4613	MYCN	ORPHA:391641
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0006262	Aplasia/Hypoplasia of the 5th finger	3481	IGF2	OMIM:180860
HP:0006262	Aplasia/Hypoplasia of the 5th finger	51199	NIN	ORPHA:319675
HP:0006262	Aplasia/Hypoplasia of the 5th finger	51199	NIN	OMIM:614851
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7474	WNT5A	OMIM:180700
HP:0006262	Aplasia/Hypoplasia of the 5th finger	1855	DVL1	OMIM:180700
HP:0006262	Aplasia/Hypoplasia of the 5th finger	9241	NOG	OMIM:186500
HP:0006262	Aplasia/Hypoplasia of the 5th finger	22827	PUF60	ORPHA:508488
HP:0006262	Aplasia/Hypoplasia of the 5th finger	3239	HOXD13	OMIM:186000
HP:0006262	Aplasia/Hypoplasia of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0006262	Aplasia/Hypoplasia of the 5th finger	10847	SRCAP	OMIM:136140
HP:0006262	Aplasia/Hypoplasia of the 5th finger	860	RUNX2	OMIM:119600
HP:0006262	Aplasia/Hypoplasia of the 5th finger	860	RUNX2	OMIM:156510
HP:0006262	Aplasia/Hypoplasia of the 5th finger	2623	GATA1	OMIM:190685
HP:0006262	Aplasia/Hypoplasia of the 5th finger	2783	GNB2	OMIM:619503
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5932	RBBP8	OMIM:251255
HP:0006262	Aplasia/Hypoplasia of the 5th finger	1280	COL2A1	OMIM:271700
HP:0006262	Aplasia/Hypoplasia of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7476	WNT7A	OMIM:228930
HP:0006262	Aplasia/Hypoplasia of the 5th finger	2697	GJA1	OMIM:186100
HP:0006262	Aplasia/Hypoplasia of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0006262	Aplasia/Hypoplasia of the 5th finger	9742	IFT140	OMIM:266920
HP:0006262	Aplasia/Hypoplasia of the 5th finger	56992	KIF15	ORPHA:261323
HP:0006262	Aplasia/Hypoplasia of the 5th finger	2245	FGD1	OMIM:305400
HP:0006262	Aplasia/Hypoplasia of the 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5648	MASP1	OMIM:257920
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6597	SMARCA4	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6597	SMARCA4	OMIM:614609
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6598	SMARCB1	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6659	SOX4	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8289	ARID1A	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5977	DPF2	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6601	SMARCC2	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6602	SMARCD1	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	57492	ARID1B	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	196528	ARID2	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6605	SMARCE1	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6664	SOX11	ORPHA:1465
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5879	RAC1	ORPHA:500159
HP:0006262	Aplasia/Hypoplasia of the 5th finger	91461	PKDCC	OMIM:618821
HP:0006262	Aplasia/Hypoplasia of the 5th finger	3209	HOXA13	OMIM:140000
HP:0006262	Aplasia/Hypoplasia of the 5th finger	3209	HOXA13	OMIM:176305
HP:0006262	Aplasia/Hypoplasia of the 5th finger	9820	CUL7	OMIM:273750
HP:0006262	Aplasia/Hypoplasia of the 5th finger	23363	OBSL1	OMIM:612921
HP:0006262	Aplasia/Hypoplasia of the 5th finger	4848	CNOT2	OMIM:618608
HP:0006262	Aplasia/Hypoplasia of the 5th finger	2778	GNAS	ORPHA:79445
HP:0006262	Aplasia/Hypoplasia of the 5th finger	57465	TBC1D24	ORPHA:79500
HP:0006262	Aplasia/Hypoplasia of the 5th finger	57465	TBC1D24	OMIM:220500
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5286	PIK3C2A	ORPHA:557003
HP:0006262	Aplasia/Hypoplasia of the 5th finger	1327	COX4I1	OMIM:619060
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7750	ZMYM2	OMIM:619522
HP:0006262	Aplasia/Hypoplasia of the 5th finger	4212	MEIS2	OMIM:600987
HP:0006262	Aplasia/Hypoplasia of the 5th finger	9775	EIF4A3	OMIM:268305
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7403	KDM6A	OMIM:300867
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7403	KDM6A	ORPHA:2322
HP:0006262	Aplasia/Hypoplasia of the 5th finger	7403	KDM6A	OMIM:147920
HP:0006262	Aplasia/Hypoplasia of the 5th finger	1028	CDKN1C	ORPHA:397590
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5324	PLAG1	ORPHA:397590
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8091	HMGA2	ORPHA:397590
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8085	KMT2D	ORPHA:2322
HP:0006262	Aplasia/Hypoplasia of the 5th finger	8085	KMT2D	OMIM:147920
HP:0006262	Aplasia/Hypoplasia of the 5th finger	9126	SMC3	OMIM:610759
HP:0006262	Aplasia/Hypoplasia of the 5th finger	4297	KMT2A	OMIM:605130
HP:0006262	Aplasia/Hypoplasia of the 5th finger	6926	TBX3	OMIM:181450
HP:0006263	Abnormality of the epiphyses of the 2nd finger	658	BMPR1B	ORPHA:93384
HP:0006263	Abnormality of the epiphyses of the 2nd finger	8200	GDF5	OMIM:113100
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	650	BMP2	OMIM:112600
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	2239	GPC4	ORPHA:373
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	2719	GPC3	ORPHA:373
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	4212	MEIS2	OMIM:600987
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	10265	IRX5	OMIM:611174
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	9896	FIG4	OMIM:216340
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	9742	IFT140	OMIM:266920
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	860	RUNX2	OMIM:119600
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	860	RUNX2	OMIM:156510
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	8200	GDF5	OMIM:615072
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	8200	GDF5	OMIM:113100
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	27152	INTU	OMIM:617926
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0006265	Aplasia/Hypoplasia of fingers	157570	ESCO2	OMIM:268300
HP:0006265	Aplasia/Hypoplasia of fingers	7480	WNT10B	OMIM:225300
HP:0006265	Aplasia/Hypoplasia of fingers	7476	WNT7A	OMIM:228930
HP:0006265	Aplasia/Hypoplasia of fingers	7476	WNT7A	ORPHA:2879
HP:0006265	Aplasia/Hypoplasia of fingers	7476	WNT7A	OMIM:276820
HP:0006265	Aplasia/Hypoplasia of fingers	9401	RECQL4	ORPHA:1225
HP:0006265	Aplasia/Hypoplasia of fingers	25836	NIPBL	OMIM:122470
HP:0006265	Aplasia/Hypoplasia of fingers	6154	RPL26	OMIM:614900
HP:0006265	Aplasia/Hypoplasia of fingers	64093	SMOC1	OMIM:206920
HP:0006265	Aplasia/Hypoplasia of fingers	64093	SMOC1	ORPHA:1106
HP:0006265	Aplasia/Hypoplasia of fingers	1749	DLX5	OMIM:183600
HP:0006265	Aplasia/Hypoplasia of fingers	10262	SF3B4	ORPHA:1788
HP:0006265	Aplasia/Hypoplasia of fingers	55636	CHD7	OMIM:214800
HP:0006265	Aplasia/Hypoplasia of fingers	727857	BHLHA9	ORPHA:1986
HP:0006265	Aplasia/Hypoplasia of fingers	7021	TFAP2B	ORPHA:46627
HP:0006265	Aplasia/Hypoplasia of fingers	3481	IGF2	OMIM:180860
HP:0006265	Aplasia/Hypoplasia of fingers	51199	NIN	ORPHA:319675
HP:0006265	Aplasia/Hypoplasia of fingers	51199	NIN	OMIM:614851
HP:0006265	Aplasia/Hypoplasia of fingers	7474	WNT5A	OMIM:180700
HP:0006265	Aplasia/Hypoplasia of fingers	1855	DVL1	OMIM:180700
HP:0006265	Aplasia/Hypoplasia of fingers	22827	PUF60	ORPHA:508488
HP:0006265	Aplasia/Hypoplasia of fingers	2783	GNB2	OMIM:619503
HP:0006265	Aplasia/Hypoplasia of fingers	2697	GJA1	OMIM:164200
HP:0006265	Aplasia/Hypoplasia of fingers	5932	RBBP8	OMIM:251255
HP:0006265	Aplasia/Hypoplasia of fingers	10236	HNRNPR	OMIM:620073
HP:0006265	Aplasia/Hypoplasia of fingers	55777	MBD5	OMIM:156200
HP:0006265	Aplasia/Hypoplasia of fingers	4613	MYCN	ORPHA:391641
HP:0006265	Aplasia/Hypoplasia of fingers	4613	MYCN	OMIM:164280
HP:0006265	Aplasia/Hypoplasia of fingers	1300	COL10A1	OMIM:156500
HP:0006265	Aplasia/Hypoplasia of fingers	650	BMP2	ORPHA:93396
HP:0006265	Aplasia/Hypoplasia of fingers	5745	PTH1R	OMIM:600002
HP:0006265	Aplasia/Hypoplasia of fingers	5422	POLA1	OMIM:301030
HP:0006265	Aplasia/Hypoplasia of fingers	652	BMP4	OMIM:607932
HP:0006265	Aplasia/Hypoplasia of fingers	9742	IFT140	OMIM:266920
HP:0006265	Aplasia/Hypoplasia of fingers	4920	ROR2	OMIM:113000
HP:0006265	Aplasia/Hypoplasia of fingers	5144	PDE4D	ORPHA:439822
HP:0006265	Aplasia/Hypoplasia of fingers	8085	KMT2D	ORPHA:2322
HP:0006265	Aplasia/Hypoplasia of fingers	7403	KDM6A	ORPHA:2322
HP:0006265	Aplasia/Hypoplasia of fingers	25871	NEPRO	OMIM:618853
HP:0006265	Aplasia/Hypoplasia of fingers	51053	GMNN	OMIM:616835
HP:0006265	Aplasia/Hypoplasia of fingers	5116	PCNT	OMIM:210720
HP:0006265	Aplasia/Hypoplasia of fingers	22995	CEP152	OMIM:613823
HP:0006265	Aplasia/Hypoplasia of fingers	57572	DOCK6	OMIM:614219
HP:0006265	Aplasia/Hypoplasia of fingers	55081	IFT57	OMIM:617927
HP:0006265	Aplasia/Hypoplasia of fingers	407975	MIR17HG	ORPHA:391646
HP:0006265	Aplasia/Hypoplasia of fingers	4297	KMT2A	OMIM:605130
HP:0006265	Aplasia/Hypoplasia of fingers	1280	COL2A1	OMIM:271700
HP:0006265	Aplasia/Hypoplasia of fingers	2260	FGFR1	OMIM:101600
HP:0006265	Aplasia/Hypoplasia of fingers	2263	FGFR2	OMIM:101600
HP:0006265	Aplasia/Hypoplasia of fingers	84295	PHF6	OMIM:301900
HP:0006265	Aplasia/Hypoplasia of fingers	3209	HOXA13	OMIM:140000
HP:0006265	Aplasia/Hypoplasia of fingers	3209	HOXA13	ORPHA:2438
HP:0006265	Aplasia/Hypoplasia of fingers	9451	EIF2AK3	OMIM:226980
HP:0006265	Aplasia/Hypoplasia of fingers	84992	PIGY	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	84992	PIGY	OMIM:616809
HP:0006265	Aplasia/Hypoplasia of fingers	84720	PIGO	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	84720	PIGO	OMIM:614749
HP:0006265	Aplasia/Hypoplasia of fingers	93210	PGAP3	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	93210	PGAP3	OMIM:615716
HP:0006265	Aplasia/Hypoplasia of fingers	284098	PIGW	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	27315	PGAP2	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	27315	PGAP2	OMIM:614207
HP:0006265	Aplasia/Hypoplasia of fingers	55650	PIGV	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	9487	PIGL	ORPHA:247262
HP:0006265	Aplasia/Hypoplasia of fingers	57020	VPS35L	OMIM:619135
HP:0006265	Aplasia/Hypoplasia of fingers	4256	MGP	OMIM:245150
HP:0006265	Aplasia/Hypoplasia of fingers	2972	BRF1	OMIM:616202
HP:0006265	Aplasia/Hypoplasia of fingers	29929	ALG6	ORPHA:79320
HP:0006265	Aplasia/Hypoplasia of fingers	5447	POR	ORPHA:95699
HP:0006265	Aplasia/Hypoplasia of fingers	672	BRCA1	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	10459	MAD2L2	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	29089	UBE2T	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	675	BRCA2	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	55120	FANCL	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2175	FANCA	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2187	FANCB	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2176	FANCC	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2178	FANCE	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2188	FANCF	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2189	FANCG	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	5888	RAD51	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	5889	RAD51C	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	55159	RFWD3	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	83990	BRIP1	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	57697	FANCM	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	79728	PALB2	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	84464	SLX4	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	2072	ERCC4	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	55215	FANCI	ORPHA:84
HP:0006265	Aplasia/Hypoplasia of fingers	56992	KIF15	ORPHA:261323
HP:0006265	Aplasia/Hypoplasia of fingers	2245	FGD1	OMIM:305400
HP:0006265	Aplasia/Hypoplasia of fingers	23162	MAPK8IP3	OMIM:618443
HP:0006265	Aplasia/Hypoplasia of fingers	5648	MASP1	OMIM:257920
HP:0006265	Aplasia/Hypoplasia of fingers	6597	SMARCA4	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	6597	SMARCA4	OMIM:614609
HP:0006265	Aplasia/Hypoplasia of fingers	6598	SMARCB1	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	6659	SOX4	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	5977	DPF2	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	6601	SMARCC2	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	6602	SMARCD1	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	57492	ARID1B	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	196528	ARID2	ORPHA:1465
HP:0006265	Aplasia/Hypoplasia of fingers	5879	RAC1	ORPHA:500159
HP:0006265	Aplasia/Hypoplasia of fingers	9820	CUL7	OMIM:273750
HP:0006265	Aplasia/Hypoplasia of fingers	23363	OBSL1	OMIM:612921
HP:0006265	Aplasia/Hypoplasia of fingers	4848	CNOT2	OMIM:618608
HP:0006265	Aplasia/Hypoplasia of fingers	5286	PIK3C2A	ORPHA:557003
HP:0006265	Aplasia/Hypoplasia of fingers	1327	COX4I1	OMIM:619060
HP:0006265	Aplasia/Hypoplasia of fingers	1028	CDKN1C	ORPHA:397590
HP:0006265	Aplasia/Hypoplasia of fingers	5324	PLAG1	ORPHA:397590
HP:0006265	Aplasia/Hypoplasia of fingers	8091	HMGA2	ORPHA:397590
HP:0006265	Aplasia/Hypoplasia of fingers	2122	MECOM	OMIM:616738
HP:0006265	Aplasia/Hypoplasia of fingers	242	ALOX12B	OMIM:242100
HP:0006265	Aplasia/Hypoplasia of fingers	59344	ALOXE3	OMIM:242100
HP:0006265	Aplasia/Hypoplasia of fingers	8820	HESX1	OMIM:182230
HP:0006265	Aplasia/Hypoplasia of fingers	8820	HESX1	ORPHA:226307
HP:0006265	Aplasia/Hypoplasia of fingers	4921	DDR2	OMIM:271665
HP:0006265	Aplasia/Hypoplasia of fingers	64840	PORCN	OMIM:305600
HP:0006265	Aplasia/Hypoplasia of fingers	26154	ABCA12	OMIM:242500
HP:0006265	Aplasia/Hypoplasia of fingers	7840	ALMS1	ORPHA:64
HP:0006265	Aplasia/Hypoplasia of fingers	9131	AIFM1	OMIM:300232
HP:0006265	Aplasia/Hypoplasia of fingers	6134	RPL10	OMIM:300998
HP:0006265	Aplasia/Hypoplasia of fingers	6134	RPL10	ORPHA:459070
HP:0006265	Aplasia/Hypoplasia of fingers	5626	PROP1	ORPHA:226307
HP:0006265	Aplasia/Hypoplasia of fingers	89884	LHX4	ORPHA:226307
HP:0006265	Aplasia/Hypoplasia of fingers	8022	LHX3	ORPHA:226307
HP:0006265	Aplasia/Hypoplasia of fingers	5449	POU1F1	ORPHA:226307
HP:0006265	Aplasia/Hypoplasia of fingers	4038	LRP4	OMIM:614305
HP:0006265	Aplasia/Hypoplasia of fingers	5593	PRKG2	OMIM:619636
HP:0006265	Aplasia/Hypoplasia of fingers	1836	SLC26A2	ORPHA:628
HP:0006265	Aplasia/Hypoplasia of fingers	1836	SLC26A2	OMIM:222600
HP:0006265	Aplasia/Hypoplasia of fingers	1836	SLC26A2	ORPHA:93307
HP:0006265	Aplasia/Hypoplasia of fingers	79718	TBL1XR1	OMIM:602342
HP:0006265	Aplasia/Hypoplasia of fingers	79718	TBL1XR1	ORPHA:487825
HP:0006265	Aplasia/Hypoplasia of fingers	59341	TRPV4	OMIM:156530
HP:0006265	Aplasia/Hypoplasia of fingers	2200	FBN1	OMIM:608328
HP:0006265	Aplasia/Hypoplasia of fingers	4089	SMAD4	OMIM:139210
HP:0006265	Aplasia/Hypoplasia of fingers	2316	FLNA	OMIM:300049
HP:0006265	Aplasia/Hypoplasia of fingers	7750	ZMYM2	OMIM:619522
HP:0006265	Aplasia/Hypoplasia of fingers	9578	CDC42BPB	OMIM:619841
HP:0006265	Aplasia/Hypoplasia of fingers	8481	OFD1	OMIM:300209
HP:0006265	Aplasia/Hypoplasia of fingers	55784	MCTP2	ORPHA:1596
HP:0006265	Aplasia/Hypoplasia of fingers	176	ACAN	OMIM:612813
HP:0006265	Aplasia/Hypoplasia of fingers	3930	LBR	OMIM:215140
HP:0006265	Aplasia/Hypoplasia of fingers	427	ASAH1	ORPHA:333
HP:0006265	Aplasia/Hypoplasia of fingers	9241	NOG	OMIM:186570
HP:0006265	Aplasia/Hypoplasia of fingers	2317	FLNB	OMIM:108720
HP:0006265	Aplasia/Hypoplasia of fingers	658	BMPR1B	OMIM:609441
HP:0006265	Aplasia/Hypoplasia of fingers	9896	FIG4	OMIM:216340
HP:0006265	Aplasia/Hypoplasia of fingers	9896	FIG4	ORPHA:3472
HP:0006265	Aplasia/Hypoplasia of fingers	444	ASPH	OMIM:601552
HP:0006265	Aplasia/Hypoplasia of fingers	1513	CTSK	ORPHA:763
HP:0006265	Aplasia/Hypoplasia of fingers	84823	LMNB2	OMIM:619180
HP:0006265	Aplasia/Hypoplasia of fingers	55697	VAC14	ORPHA:3472
HP:0006265	Aplasia/Hypoplasia of fingers	164	AP1G1	OMIM:619467
HP:0006265	Aplasia/Hypoplasia of fingers	57178	ZMIZ1	OMIM:618659
HP:0006265	Aplasia/Hypoplasia of fingers	6023	RMRP	OMIM:607095
HP:0006265	Aplasia/Hypoplasia of fingers	1146	CHRNG	OMIM:253290
HP:0006265	Aplasia/Hypoplasia of fingers	1144	CHRND	OMIM:253290
HP:0006265	Aplasia/Hypoplasia of fingers	1134	CHRNA1	OMIM:253290
HP:0006265	Aplasia/Hypoplasia of fingers	2719	GPC3	OMIM:312870
HP:0006265	Aplasia/Hypoplasia of fingers	2239	GPC4	OMIM:312870
HP:0006265	Aplasia/Hypoplasia of fingers	7227	TRPS1	OMIM:190351
HP:0006265	Aplasia/Hypoplasia of fingers	5130	PCYT1A	OMIM:608940
HP:0006265	Aplasia/Hypoplasia of fingers	3480	IGF1R	OMIM:270450
HP:0006265	Aplasia/Hypoplasia of fingers	6792	CDKL5	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	3736	KCNA1	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	9091	PIGQ	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	2775	GNAO1	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	81603	TRIM8	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	2902	GRIN1	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	79751	SLC25A22	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	150094	SIK1	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	8573	CASK	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	23312	DMXL2	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	2917	GRM7	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	170302	ARX	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	11284	PNKP	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	6326	SCN2A	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	51227	PIGP	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	6324	SCN1B	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	4761	NEUROD2	ORPHA:1934
HP:0006265	Aplasia/Hypoplasia of fingers	2778	GNAS	OMIM:103580
HP:0006265	Aplasia/Hypoplasia of fingers	26123	TCTN3	OMIM:258860
HP:0006265	Aplasia/Hypoplasia of fingers	2879	GPX4	OMIM:250220
HP:0006265	Aplasia/Hypoplasia of fingers	50814	NSDHL	OMIM:308050
HP:0006265	Aplasia/Hypoplasia of fingers	2019	EN1	OMIM:619218
HP:0006265	Aplasia/Hypoplasia of fingers	6926	TBX3	OMIM:181450
HP:0006265	Aplasia/Hypoplasia of fingers	8200	GDF5	OMIM:113100
HP:0006265	Aplasia/Hypoplasia of fingers	4212	MEIS2	OMIM:600987
HP:0006265	Aplasia/Hypoplasia of fingers	10265	IRX5	OMIM:611174
HP:0006265	Aplasia/Hypoplasia of fingers	3239	HOXD13	ORPHA:93409
HP:0006265	Aplasia/Hypoplasia of fingers	10847	SRCAP	OMIM:136140
HP:0006265	Aplasia/Hypoplasia of fingers	860	RUNX2	OMIM:119600
HP:0006265	Aplasia/Hypoplasia of fingers	860	RUNX2	OMIM:156510
HP:0006265	Aplasia/Hypoplasia of fingers	27152	INTU	OMIM:617926
HP:0006265	Aplasia/Hypoplasia of fingers	9935	MAFB	ORPHA:233
HP:0006265	Aplasia/Hypoplasia of fingers	1123	CHN1	ORPHA:233
HP:0006265	Aplasia/Hypoplasia of fingers	3981	LIG4	ORPHA:235
HP:0006265	Aplasia/Hypoplasia of fingers	54888	NSUN2	ORPHA:235
HP:0006265	Aplasia/Hypoplasia of fingers	5980	REV3L	ORPHA:570
HP:0006265	Aplasia/Hypoplasia of fingers	23129	PLXND1	ORPHA:570
HP:0006265	Aplasia/Hypoplasia of fingers	5925	RB1	ORPHA:1587
HP:0006265	Aplasia/Hypoplasia of fingers	80144	FRAS1	OMIM:219000
HP:0006265	Aplasia/Hypoplasia of fingers	8626	TP63	ORPHA:1896
HP:0006265	Aplasia/Hypoplasia of fingers	57167	SALL4	ORPHA:959
HP:0006265	Aplasia/Hypoplasia of fingers	6885	MAP3K7	ORPHA:1826
HP:0006265	Aplasia/Hypoplasia of fingers	5293	PIK3CD	ORPHA:221139
HP:0006265	Aplasia/Hypoplasia of fingers	90417	KNSTRN	ORPHA:221139
HP:0006265	Aplasia/Hypoplasia of fingers	5727	PTCH1	OMIM:109400
HP:0006265	Aplasia/Hypoplasia of fingers	3756	KCNH1	ORPHA:420561
HP:0006265	Aplasia/Hypoplasia of fingers	4750	NEK1	ORPHA:2751
HP:0006265	Aplasia/Hypoplasia of fingers	6910	TBX5	ORPHA:392
HP:0006265	Aplasia/Hypoplasia of fingers	6910	TBX5	OMIM:142900
HP:0006265	Aplasia/Hypoplasia of fingers	6651	SON	ORPHA:500150
HP:0006265	Aplasia/Hypoplasia of fingers	340419	RSPO2	OMIM:618022
HP:0006265	Aplasia/Hypoplasia of fingers	8452	CUL3	OMIM:619239
HP:0006265	Aplasia/Hypoplasia of fingers	5718	PSMD12	OMIM:617516
HP:0006265	Aplasia/Hypoplasia of fingers	9939	RBM8A	OMIM:274000
HP:0006265	Aplasia/Hypoplasia of fingers	6223	RPS19	OMIM:105650
HP:0006265	Aplasia/Hypoplasia of fingers	6223	RPS19	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6135	RPL11	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6138	RPL15	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6229	RPS24	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6125	RPL5	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6204	RPS10	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6224	RPS20	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6165	RPL35A	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	2623	GATA1	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6232	RPS27	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6231	RPS26	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	11224	RPL35	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6160	RPL31	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6218	RPS17	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6201	RPS7	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6155	RPL27	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6210	RPS15A	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	90121	TSR2	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6141	RPL18	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6235	RPS29	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	6234	RPS28	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	51816	ADA2	ORPHA:124
HP:0006265	Aplasia/Hypoplasia of fingers	54101	RIPK4	OMIM:263650
HP:0006265	Aplasia/Hypoplasia of fingers	54101	RIPK4	ORPHA:1234
HP:0006265	Aplasia/Hypoplasia of fingers	2255	FGF10	ORPHA:2363
HP:0006265	Aplasia/Hypoplasia of fingers	29980	DONSON	OMIM:251230
HP:0006265	Aplasia/Hypoplasia of fingers	100151683	RNU4ATAC	OMIM:210710
HP:0006265	Aplasia/Hypoplasia of fingers	23028	KDM1A	OMIM:616728
HP:0006265	Aplasia/Hypoplasia of fingers	23028	KDM1A	ORPHA:477993
HP:0006265	Aplasia/Hypoplasia of fingers	29998	BICRA	OMIM:619325
HP:0006265	Aplasia/Hypoplasia of fingers	1723	DHODH	OMIM:263750
HP:0006265	Aplasia/Hypoplasia of fingers	526	ATP6V1B2	ORPHA:79499
HP:0006265	Aplasia/Hypoplasia of fingers	324	APC	ORPHA:3258
HP:0006265	Aplasia/Hypoplasia of fingers	54880	BCOR	ORPHA:2712
HP:0006265	Aplasia/Hypoplasia of fingers	7020	TFAP2A	OMIM:113620
HP:0006265	Aplasia/Hypoplasia of fingers	1717	DHCR7	OMIM:270400
HP:0006265	Aplasia/Hypoplasia of fingers	10815	CPLX1	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	10815	CPLX1	OMIM:194190
HP:0006265	Aplasia/Hypoplasia of fingers	54872	PIGG	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	7469	NELFA	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	1487	CTBP1	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	1487	CTBP1	OMIM:194190
HP:0006265	Aplasia/Hypoplasia of fingers	3954	LETM1	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	3954	LETM1	OMIM:194190
HP:0006265	Aplasia/Hypoplasia of fingers	7468	NSD2	ORPHA:280
HP:0006265	Aplasia/Hypoplasia of fingers	7468	NSD2	OMIM:194190
HP:0006265	Aplasia/Hypoplasia of fingers	25942	SIN3A	OMIM:613406
HP:0006265	Aplasia/Hypoplasia of fingers	53834	FGFRL1	OMIM:194190
HP:0006265	Aplasia/Hypoplasia of fingers	1387	CREBBP	OMIM:180849
HP:0006265	Aplasia/Hypoplasia of fingers	2033	EP300	OMIM:180849
HP:0006265	Aplasia/Hypoplasia of fingers	91461	PKDCC	OMIM:618821
HP:0006265	Aplasia/Hypoplasia of fingers	80036	TRPM3	OMIM:620224
HP:0006265	Aplasia/Hypoplasia of fingers	374879	ZNF699	OMIM:619488
HP:0006265	Aplasia/Hypoplasia of fingers	50515	CHST11	OMIM:618167
HP:0006265	Aplasia/Hypoplasia of fingers	9968	MED12	OMIM:300895
HP:0006265	Aplasia/Hypoplasia of fingers	4053	LTBP2	ORPHA:3449
HP:0006265	Aplasia/Hypoplasia of fingers	81794	ADAMTS10	ORPHA:3449
HP:0006265	Aplasia/Hypoplasia of fingers	374969	SVBP	OMIM:618569
HP:0006265	Aplasia/Hypoplasia of fingers	26100	WIPI2	OMIM:618453
HP:0006265	Aplasia/Hypoplasia of fingers	9775	EIF4A3	OMIM:268305
HP:0006265	Aplasia/Hypoplasia of fingers	9488	PIGB	OMIM:618580
HP:0006265	Aplasia/Hypoplasia of fingers	10617	STAMBP	OMIM:614261
HP:0006265	Aplasia/Hypoplasia of fingers	2335	FN1	ORPHA:93315
HP:0006265	Aplasia/Hypoplasia of fingers	23556	PIGN	ORPHA:2059
HP:0006265	Aplasia/Hypoplasia of fingers	23556	PIGN	OMIM:614080
HP:0006265	Aplasia/Hypoplasia of fingers	51412	ACTL6B	OMIM:618470
HP:0006265	Aplasia/Hypoplasia of fingers	57465	TBC1D24	OMIM:220500
HP:0006265	Aplasia/Hypoplasia of fingers	57465	TBC1D24	ORPHA:79500
HP:0006265	Aplasia/Hypoplasia of fingers	613	BCR	ORPHA:261330
HP:0006265	Aplasia/Hypoplasia of fingers	1399	CRKL	ORPHA:261330
HP:0006265	Aplasia/Hypoplasia of fingers	5594	MAPK1	ORPHA:261330
HP:0006265	Aplasia/Hypoplasia of fingers	5744	PTHLH	ORPHA:93387
HP:0006265	Aplasia/Hypoplasia of fingers	3764	KCNJ8	ORPHA:1517
HP:0006265	Aplasia/Hypoplasia of fingers	10060	ABCC9	ORPHA:1517
HP:0006265	Aplasia/Hypoplasia of fingers	10651	MTX2	ORPHA:90153
HP:0006265	Aplasia/Hypoplasia of fingers	57539	WDR35	ORPHA:1515
HP:0006265	Aplasia/Hypoplasia of fingers	57539	WDR35	OMIM:614091
HP:0006265	Aplasia/Hypoplasia of fingers	112752	IFT43	ORPHA:1515
HP:0006265	Aplasia/Hypoplasia of fingers	51098	IFT52	ORPHA:1515
HP:0006265	Aplasia/Hypoplasia of fingers	51098	IFT52	OMIM:617102
HP:0006265	Aplasia/Hypoplasia of fingers	55764	IFT122	ORPHA:1515
HP:0006265	Aplasia/Hypoplasia of fingers	55764	IFT122	OMIM:218330
HP:0006265	Aplasia/Hypoplasia of fingers	57728	WDR19	ORPHA:1515
HP:0006265	Aplasia/Hypoplasia of fingers	57728	WDR19	OMIM:614378
HP:0006265	Aplasia/Hypoplasia of fingers	10269	ZMPSTE24	ORPHA:90154
HP:0006265	Aplasia/Hypoplasia of fingers	29957	SLC25A24	ORPHA:2963
HP:0006265	Aplasia/Hypoplasia of fingers	29957	SLC25A24	ORPHA:2095
HP:0006265	Aplasia/Hypoplasia of fingers	29957	SLC25A24	OMIM:612289
HP:0006265	Aplasia/Hypoplasia of fingers	6595	SMARCA2	OMIM:619293
HP:0006265	Aplasia/Hypoplasia of fingers	4784	NFIX	OMIM:602535
HP:0006265	Aplasia/Hypoplasia of fingers	24140	FTSJ1	OMIM:309549
HP:0006265	Aplasia/Hypoplasia of fingers	54496	PRMT7	OMIM:617157
HP:0006265	Aplasia/Hypoplasia of fingers	9469	CHST3	OMIM:143095
HP:0006265	Aplasia/Hypoplasia of fingers	64359	NXN	ORPHA:1507
HP:0006265	Aplasia/Hypoplasia of fingers	8289	ARID1A	OMIM:614607
HP:0006265	Aplasia/Hypoplasia of fingers	5566	PRKACA	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	5567	PRKACB	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	2735	GLI1	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	2121	EVC	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	51626	DYNC2LI1	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	132884	EVC2	ORPHA:289
HP:0006265	Aplasia/Hypoplasia of fingers	9419	CRIPT	OMIM:615789
HP:0006265	Aplasia/Hypoplasia of fingers	3782	KCNN3	OMIM:618658
HP:0006265	Aplasia/Hypoplasia of fingers	4853	NOTCH2	ORPHA:955
HP:0006265	Aplasia/Hypoplasia of fingers	54	ACP5	ORPHA:1855
HP:0006265	Aplasia/Hypoplasia of fingers	6197	RPS6KA3	ORPHA:192
HP:0006265	Aplasia/Hypoplasia of fingers	5281	PIGF	OMIM:619356
HP:0006265	Aplasia/Hypoplasia of fingers	94005	PIGS	OMIM:618143
HP:0006265	Aplasia/Hypoplasia of fingers	2677	GGCX	OMIM:277450
HP:0006265	Aplasia/Hypoplasia of fingers	10283	CWC27	OMIM:250410
HP:0006265	Aplasia/Hypoplasia of fingers	415	ARSL	ORPHA:79345
HP:0006265	Aplasia/Hypoplasia of fingers	415	ARSL	OMIM:302950
HP:0006265	Aplasia/Hypoplasia of fingers	1311	COMP	OMIM:177170
HP:0006265	Aplasia/Hypoplasia of fingers	25839	COG4	OMIM:618150
HP:0006265	Aplasia/Hypoplasia of fingers	26137	ZBTB20	OMIM:259050
HP:0006265	Aplasia/Hypoplasia of fingers	60401	EDA2R	ORPHA:181
HP:0006265	Aplasia/Hypoplasia of fingers	1896	EDA	ORPHA:181
HP:0006265	Aplasia/Hypoplasia of fingers	5159	PDGFRB	OMIM:601812
HP:0006265	Aplasia/Hypoplasia of fingers	28952	CCDC22	OMIM:300963
HP:0006265	Aplasia/Hypoplasia of fingers	182	JAG1	OMIM:118450
HP:0006265	Aplasia/Hypoplasia of fingers	7291	TWIST1	OMIM:617746
HP:0006265	Aplasia/Hypoplasia of fingers	6605	SMARCE1	OMIM:616938
HP:0006265	Aplasia/Hypoplasia of fingers	3516	RBPJ	ORPHA:974
HP:0006265	Aplasia/Hypoplasia of fingers	3516	RBPJ	OMIM:614814
HP:0006265	Aplasia/Hypoplasia of fingers	4851	NOTCH1	ORPHA:974
HP:0006265	Aplasia/Hypoplasia of fingers	57514	ARHGAP31	ORPHA:974
HP:0006265	Aplasia/Hypoplasia of fingers	285203	EOGT	ORPHA:974
HP:0006265	Aplasia/Hypoplasia of fingers	54567	DLL4	ORPHA:974
HP:0006265	Aplasia/Hypoplasia of fingers	8242	KDM5C	OMIM:300534
HP:0006265	Aplasia/Hypoplasia of fingers	1186	CLCN7	ORPHA:53
HP:0006265	Aplasia/Hypoplasia of fingers	2702	GJA5	OMIM:612474
HP:0006265	Aplasia/Hypoplasia of fingers	2703	GJA8	OMIM:612474
HP:0006265	Aplasia/Hypoplasia of fingers	6664	SOX11	OMIM:615866
HP:0006265	Aplasia/Hypoplasia of fingers	25886	POC1A	OMIM:614813
HP:0006265	Aplasia/Hypoplasia of fingers	865	CBFB	OMIM:620099
HP:0006265	Aplasia/Hypoplasia of fingers	2535	FZD2	OMIM:164745
HP:0006265	Aplasia/Hypoplasia of fingers	2535	FZD2	ORPHA:93328
HP:0006265	Aplasia/Hypoplasia of fingers	23476	BRD4	ORPHA:199
HP:0006265	Aplasia/Hypoplasia of fingers	9126	SMC3	ORPHA:199
HP:0006265	Aplasia/Hypoplasia of fingers	8243	SMC1A	ORPHA:199
HP:0006265	Aplasia/Hypoplasia of fingers	55869	HDAC8	ORPHA:199
HP:0006265	Aplasia/Hypoplasia of fingers	5885	RAD21	ORPHA:199
HP:0006265	Aplasia/Hypoplasia of fingers	90	ACVR1	OMIM:135100
HP:0006265	Aplasia/Hypoplasia of fingers	6662	SOX9	OMIM:114290
HP:0006265	Aplasia/Hypoplasia of fingers	26040	SETBP1	OMIM:269150
HP:0006265	Aplasia/Hypoplasia of fingers	26040	SETBP1	ORPHA:798
HP:0006265	Aplasia/Hypoplasia of fingers	388015	RTL1	ORPHA:96334
HP:0006265	Aplasia/Hypoplasia of fingers	8788	DLK1	ORPHA:96334
HP:0006265	Aplasia/Hypoplasia of fingers	55384	MEG3	ORPHA:96334
HP:0006265	Aplasia/Hypoplasia of fingers	3911	LAMA5	OMIM:620076
HP:0006265	Aplasia/Hypoplasia of fingers	124583	CANT1	OMIM:251450
HP:0006265	Aplasia/Hypoplasia of fingers	7516	XRCC2	OMIM:617247
HP:0006265	Aplasia/Hypoplasia of fingers	2177	FANCD2	OMIM:227646
HP:0006265	Aplasia/Hypoplasia of fingers	64327	LMBR1	ORPHA:93321
HP:0006265	Aplasia/Hypoplasia of fingers	6469	SHH	ORPHA:93321
HP:0006265	Aplasia/Hypoplasia of fingers	7204	TRIO	ORPHA:476126
HP:0006265	Aplasia/Hypoplasia of fingers	1954	MEGF8	OMIM:614976
HP:0006265	Aplasia/Hypoplasia of fingers	4000	LMNA	OMIM:610140
HP:0006265	Aplasia/Hypoplasia of fingers	2261	FGFR3	ORPHA:15
HP:0006265	Aplasia/Hypoplasia of fingers	2475	MTOR	OMIM:616638
HP:0006265	Aplasia/Hypoplasia of fingers	3549	IHH	OMIM:607778
HP:0006265	Aplasia/Hypoplasia of fingers	3759	KCNJ2	OMIM:170390
HP:0006266	Small placenta	3481	IGF2	ORPHA:397590
HP:0006266	Small placenta	1028	CDKN1C	ORPHA:397590
HP:0006266	Small placenta	5324	PLAG1	ORPHA:397590
HP:0006266	Small placenta	8091	HMGA2	ORPHA:397590
HP:0006266	Small placenta	3479	IGF1	ORPHA:73272
HP:0006266	Small placenta	4000	LMNA	ORPHA:1662
HP:0006266	Small placenta	10269	ZMPSTE24	ORPHA:1662
HP:0006266	Small placenta	4593	MUSK	OMIM:208150
HP:0006266	Small placenta	26227	PHGDH	OMIM:256520
HP:0006267	Large placenta	3930	LBR	OMIM:215140
HP:0006267	Large placenta	4000	LMNA	ORPHA:1662
HP:0006267	Large placenta	10269	ZMPSTE24	ORPHA:1662
HP:0006267	Large placenta	388015	RTL1	ORPHA:254534
HP:0006267	Large placenta	388015	RTL1	ORPHA:96334
HP:0006267	Large placenta	388015	RTL1	ORPHA:254528
HP:0006267	Large placenta	8788	DLK1	ORPHA:254534
HP:0006267	Large placenta	8788	DLK1	ORPHA:96334
HP:0006267	Large placenta	8788	DLK1	ORPHA:254528
HP:0006267	Large placenta	55384	MEG3	ORPHA:254534
HP:0006267	Large placenta	55384	MEG3	ORPHA:96334
HP:0006267	Large placenta	55384	MEG3	ORPHA:254528
HP:0006267	Large placenta	54903	MKS1	OMIM:249000
HP:0006267	Large placenta	9652	SKIC3	OMIM:222470
HP:0006268	Fluctuating splenomegaly	4598	MVK	OMIM:610377
HP:0006268	Fluctuating splenomegaly	7174	TPP2	OMIM:619220
HP:0001744	Splenomegaly	9663	LPIN2	OMIM:609628
HP:0001744	Splenomegaly	171023	ASXL1	ORPHA:98850
HP:0001744	Splenomegaly	54790	TET2	ORPHA:98850
HP:0001744	Splenomegaly	54790	TET2	ORPHA:824
HP:0001744	Splenomegaly	54790	TET2	OMIM:619126
HP:0001744	Splenomegaly	867	CBL	ORPHA:98850
HP:0001744	Splenomegaly	867	CBL	OMIM:613563
HP:0001744	Splenomegaly	861	RUNX1	ORPHA:98850
HP:0001744	Splenomegaly	6427	SRSF2	ORPHA:98850
HP:0001744	Splenomegaly	201294	UNC13D	OMIM:608898
HP:0001744	Splenomegaly	3071	NCKAP1L	OMIM:618982
HP:0001744	Splenomegaly	10466	COG5	ORPHA:263487
HP:0001744	Splenomegaly	2632	GBE1	OMIM:232500
HP:0001744	Splenomegaly	55823	VPS11	ORPHA:466934
HP:0001744	Splenomegaly	5880	RAC2	OMIM:618986
HP:0001744	Splenomegaly	100151683	RNU4ATAC	ORPHA:353298
HP:0001744	Splenomegaly	811	CALR	ORPHA:824
HP:0001744	Splenomegaly	4352	MPL	ORPHA:824
HP:0001744	Splenomegaly	3717	JAK2	ORPHA:824
HP:0001744	Splenomegaly	857	CAV1	OMIM:612526
HP:0001744	Splenomegaly	79796	ALG9	OMIM:608776
HP:0001744	Splenomegaly	4023	LPL	OMIM:238600
HP:0001744	Splenomegaly	2629	GBA1	OMIM:608013
HP:0001744	Splenomegaly	2629	GBA1	ORPHA:2072
HP:0001744	Splenomegaly	4758	NEU1	ORPHA:93399
HP:0001744	Splenomegaly	4758	NEU1	ORPHA:93400
HP:0001744	Splenomegaly	9420	CYP7B1	ORPHA:79302
HP:0001744	Splenomegaly	4125	MAN2B1	ORPHA:309282
HP:0001744	Splenomegaly	4125	MAN2B1	ORPHA:309288
HP:0001744	Splenomegaly	55315	SLC29A3	OMIM:602782
HP:0001744	Splenomegaly	55315	SLC29A3	ORPHA:168569
HP:0001744	Splenomegaly	6888	TALDO1	ORPHA:101028
HP:0001744	Splenomegaly	6888	TALDO1	OMIM:606003
HP:0001744	Splenomegaly	6775	STAT4	ORPHA:85408
HP:0001744	Splenomegaly	3560	IL2RB	ORPHA:85408
HP:0001744	Splenomegaly	79722	ANKRD55	ORPHA:85408
HP:0001744	Splenomegaly	26191	PTPN22	ORPHA:85408
HP:0001744	Splenomegaly	919	CD247	ORPHA:85408
HP:0001744	Splenomegaly	919	CD247	ORPHA:169160
HP:0001744	Splenomegaly	3559	IL2RA	ORPHA:85408
HP:0001744	Splenomegaly	3559	IL2RA	OMIM:606367
HP:0001744	Splenomegaly	5771	PTPN2	ORPHA:85408
HP:0001744	Splenomegaly	939	CD27	OMIM:615122
HP:0001744	Splenomegaly	3074	HEXB	OMIM:268800
HP:0001744	Splenomegaly	3074	HEXB	ORPHA:309155
HP:0001744	Splenomegaly	6813	STXBP2	OMIM:613101
HP:0001744	Splenomegaly	3459	IFNGR1	OMIM:209950
HP:0001744	Splenomegaly	3716	JAK1	OMIM:618999
HP:0001744	Splenomegaly	2122	MECOM	OMIM:616738
HP:0001744	Splenomegaly	2720	GLB1	ORPHA:79255
HP:0001744	Splenomegaly	5476	CTSA	OMIM:256540
HP:0001744	Splenomegaly	57231	SNX14	ORPHA:397709
HP:0001744	Splenomegaly	9382	COG1	ORPHA:263508
HP:0001744	Splenomegaly	79158	GNPTAB	ORPHA:576
HP:0001744	Splenomegaly	427	ASAH1	ORPHA:333
HP:0001744	Splenomegaly	427	ASAH1	ORPHA:2590
HP:0001744	Splenomegaly	25839	COG4	ORPHA:263501
HP:0001744	Splenomegaly	2212	FCGR2A	OMIM:219700
HP:0001744	Splenomegaly	7040	TGFB1	OMIM:219700
HP:0001744	Splenomegaly	1080	CFTR	OMIM:219700
HP:0001744	Splenomegaly	915	CD3D	ORPHA:169160
HP:0001744	Splenomegaly	916	CD3E	ORPHA:169160
HP:0001744	Splenomegaly	65082	VPS33A	ORPHA:505248
HP:0001744	Splenomegaly	2859	GPR35	ORPHA:171
HP:0001744	Splenomegaly	10507	SEMA4D	ORPHA:171
HP:0001744	Splenomegaly	4485	MST1	ORPHA:171
HP:0001744	Splenomegaly	6925	TCF4	ORPHA:171
HP:0001744	Splenomegaly	55240	STEAP3	ORPHA:300298
HP:0001744	Splenomegaly	51218	GLRX5	OMIM:616860
HP:0001744	Splenomegaly	1777	DNASE2	OMIM:619858
HP:0001744	Splenomegaly	3988	LIPA	OMIM:278000
HP:0001744	Splenomegaly	5896	RAG1	ORPHA:331206
HP:0001744	Splenomegaly	5897	RAG2	ORPHA:331206
HP:0001744	Splenomegaly	3423	IDS	ORPHA:217085
HP:0001744	Splenomegaly	3423	IDS	ORPHA:217093
HP:0001744	Splenomegaly	3423	IDS	OMIM:309900
HP:0001744	Splenomegaly	92579	G6PC3	OMIM:612541
HP:0001744	Splenomegaly	3376	IARS1	ORPHA:541423
HP:0001744	Splenomegaly	3431	SP110	ORPHA:79124
HP:0001744	Splenomegaly	8546	AP3B1	OMIM:608233
HP:0001744	Splenomegaly	1130	LYST	ORPHA:167
HP:0001744	Splenomegaly	26154	ABCA12	OMIM:601277
HP:0001744	Splenomegaly	27031	NPHP3	OMIM:267010
HP:0001744	Splenomegaly	7289	TULP3	OMIM:619902
HP:0001744	Splenomegaly	79415	CYBC1	OMIM:618935
HP:0001744	Splenomegaly	672	BRCA1	ORPHA:1333
HP:0001744	Splenomegaly	285282	RABL3	ORPHA:1333
HP:0001744	Splenomegaly	7157	TP53	ORPHA:1333
HP:0001744	Splenomegaly	675	BRCA2	ORPHA:1333
HP:0001744	Splenomegaly	3845	KRAS	ORPHA:1333
HP:0001744	Splenomegaly	1029	CDKN2A	ORPHA:1333
HP:0001744	Splenomegaly	79728	PALB2	ORPHA:1333
HP:0001744	Splenomegaly	4089	SMAD4	ORPHA:1333
HP:0001744	Splenomegaly	23022	PALLD	ORPHA:1333
HP:0001744	Splenomegaly	10125	RASGRP1	OMIM:618534
HP:0001744	Splenomegaly	2783	GNB2	OMIM:619503
HP:0001744	Splenomegaly	3425	IDUA	OMIM:607014
HP:0001744	Splenomegaly	2584	GALK1	ORPHA:79237
HP:0001744	Splenomegaly	9051	PSTPIP1	OMIM:604416
HP:0001744	Splenomegaly	970	CD70	OMIM:618261
HP:0001744	Splenomegaly	7840	ALMS1	ORPHA:64
HP:0001744	Splenomegaly	9056	SLC7A7	ORPHA:470
HP:0001744	Splenomegaly	10312	TCIRG1	ORPHA:210110
HP:0001744	Splenomegaly	1186	CLCN7	ORPHA:210110
HP:0001744	Splenomegaly	9842	PLEKHM1	ORPHA:210110
HP:0001744	Splenomegaly	6772	STAT1	ORPHA:391487
HP:0001744	Splenomegaly	10043	TOM1	ORPHA:391487
HP:0001744	Splenomegaly	3043	HBB	ORPHA:231214
HP:0001744	Splenomegaly	3043	HBB	ORPHA:231222
HP:0001744	Splenomegaly	3043	HBB	ORPHA:231226
HP:0001744	Splenomegaly	6521	SLC4A1	OMIM:611590
HP:0001744	Splenomegaly	3572	IL6ST	OMIM:619750
HP:0001744	Splenomegaly	6774	STAT3	OMIM:615952
HP:0001744	Splenomegaly	199221	DZIP1L	OMIM:617610
HP:0001744	Splenomegaly	199221	DZIP1L	ORPHA:731
HP:0001744	Splenomegaly	5580	PRKCD	OMIM:615559
HP:0001744	Splenomegaly	5828	PEX2	OMIM:614866
HP:0001744	Splenomegaly	83706	FERMT3	OMIM:612840
HP:0001744	Splenomegaly	8517	IKBKG	OMIM:301081
HP:0001744	Splenomegaly	6513	SLC2A1	ORPHA:168577
HP:0001744	Splenomegaly	65992	DDRGK1	ORPHA:93352
HP:0001744	Splenomegaly	5551	PRF1	OMIM:603553
HP:0001744	Splenomegaly	3575	IL7R	ORPHA:169154
HP:0001744	Splenomegaly	100147744	RNU7-1	OMIM:619487
HP:0001744	Splenomegaly	100147744	RNU7-1	ORPHA:51
HP:0001744	Splenomegaly	374354	NHLRC2	OMIM:618278
HP:0001744	Splenomegaly	374879	ZNF699	OMIM:619488
HP:0001744	Splenomegaly	57169	ZNFX1	OMIM:619644
HP:0001744	Splenomegaly	2263	FGFR2	OMIM:614592
HP:0001744	Splenomegaly	2263	FGFR2	ORPHA:313855
HP:0001744	Splenomegaly	5788	PTPRC	OMIM:619924
HP:0001744	Splenomegaly	51816	ADA2	OMIM:615688
HP:0001744	Splenomegaly	51473	DCDC2	ORPHA:84081
HP:0001744	Splenomegaly	91147	TMEM67	ORPHA:84081
HP:0001744	Splenomegaly	10165	SLC25A13	ORPHA:247598
HP:0001744	Splenomegaly	9371	KIF3B	OMIM:618955
HP:0001744	Splenomegaly	5294	PIK3CG	OMIM:619802
HP:0001744	Splenomegaly	2729	GCLC	ORPHA:33574
HP:0001744	Splenomegaly	7841	MOGS	ORPHA:79330
HP:0001744	Splenomegaly	388015	RTL1	ORPHA:96334
HP:0001744	Splenomegaly	8788	DLK1	ORPHA:96334
HP:0001744	Splenomegaly	55384	MEG3	ORPHA:96334
HP:0001744	Splenomegaly	6663	SOX10	OMIM:609136
HP:0001744	Splenomegaly	114548	NLRP3	OMIM:607115
HP:0001744	Splenomegaly	91949	COG7	ORPHA:79333
HP:0001744	Splenomegaly	3718	JAK3	ORPHA:35078
HP:0001744	Splenomegaly	760	CA2	OMIM:259730
HP:0001744	Splenomegaly	19	ABCA1	ORPHA:31150
HP:0001744	Splenomegaly	5314	PKHD1	ORPHA:731
HP:0001744	Splenomegaly	9968	MED12	OMIM:301068
HP:0001744	Splenomegaly	3930	LBR	OMIM:215140
HP:0001744	Splenomegaly	7030	TFE3	OMIM:301066
HP:0001744	Splenomegaly	5873	RAB27A	OMIM:607624
HP:0001744	Splenomegaly	84868	HAVCR2	ORPHA:86884
HP:0001744	Splenomegaly	2193	FARSA	OMIM:619013
HP:0001744	Splenomegaly	10661	KLF1	OMIM:613673
HP:0001744	Splenomegaly	5194	PEX13	OMIM:614885
HP:0001744	Splenomegaly	3458	IFNG	OMIM:618963
HP:0001744	Splenomegaly	84317	CCDC115	OMIM:616828
HP:0001744	Splenomegaly	10020	GNE	ORPHA:3166
HP:0001744	Splenomegaly	83737	ITCH	ORPHA:228426
HP:0001744	Splenomegaly	9939	RBM8A	OMIM:274000
HP:0001744	Splenomegaly	57410	SCYL1	ORPHA:466794
HP:0001744	Splenomegaly	8813	DPM1	ORPHA:79322
HP:0001744	Splenomegaly	84153	RNASEH2C	OMIM:610329
HP:0001744	Splenomegaly	84153	RNASEH2C	ORPHA:51
HP:0001744	Splenomegaly	28962	OSTM1	OMIM:259720
HP:0001744	Splenomegaly	1513	CTSK	ORPHA:763
HP:0001744	Splenomegaly	11133	KPTN	ORPHA:397612
HP:0001744	Splenomegaly	9742	IFT140	OMIM:266920
HP:0001744	Splenomegaly	10535	RNASEH2A	OMIM:610333
HP:0001744	Splenomegaly	10535	RNASEH2A	ORPHA:51
HP:0001744	Splenomegaly	7535	ZAP70	ORPHA:911
HP:0001744	Splenomegaly	25939	SAMHD1	ORPHA:51
HP:0001744	Splenomegaly	79621	RNASEH2B	ORPHA:51
HP:0001744	Splenomegaly	103	ADAR	ORPHA:51
HP:0001744	Splenomegaly	11277	TREX1	ORPHA:51
HP:0001744	Splenomegaly	134353	LSM11	ORPHA:51
HP:0001744	Splenomegaly	64135	IFIH1	ORPHA:51
HP:0001744	Splenomegaly	6005	RHAG	ORPHA:71275
HP:0001744	Splenomegaly	6006	RHCE	ORPHA:71275
HP:0001744	Splenomegaly	6007	RHD	ORPHA:71275
HP:0001744	Splenomegaly	8600	TNFSF11	OMIM:259710
HP:0001744	Splenomegaly	6309	SC5D	OMIM:607330
HP:0001744	Splenomegaly	1497	CTNS	OMIM:219800
HP:0001744	Splenomegaly	5728	PTEN	OMIM:605309
HP:0001744	Splenomegaly	5728	PTEN	ORPHA:2969
HP:0001744	Splenomegaly	5728	PTEN	ORPHA:744
HP:0001744	Splenomegaly	7293	TNFRSF4	OMIM:615593
HP:0001744	Splenomegaly	3783	KCNN4	OMIM:616689
HP:0001744	Splenomegaly	3783	KCNN4	ORPHA:3202
HP:0001744	Splenomegaly	1161	ERCC8	ORPHA:90324
HP:0001744	Splenomegaly	1161	ERCC8	OMIM:216400
HP:0001744	Splenomegaly	2074	ERCC6	ORPHA:90324
HP:0001744	Splenomegaly	2074	ERCC6	OMIM:133540
HP:0001744	Splenomegaly	8573	CASK	OMIM:300908
HP:0001744	Splenomegaly	2539	G6PD	OMIM:300908
HP:0001744	Splenomegaly	4860	PNP	OMIM:613179
HP:0001744	Splenomegaly	755	CFAP410	OMIM:602271
HP:0001744	Splenomegaly	148738	HJV	OMIM:602390
HP:0001744	Splenomegaly	80270	HSD3B7	ORPHA:79301
HP:0001744	Splenomegaly	80270	HSD3B7	OMIM:607765
HP:0001744	Splenomegaly	197131	UBR1	OMIM:243800
HP:0001744	Splenomegaly	4210	MEFV	OMIM:249100
HP:0001744	Splenomegaly	4210	MEFV	ORPHA:342
HP:0001744	Splenomegaly	4210	MEFV	ORPHA:117
HP:0001744	Splenomegaly	84433	CARD11	OMIM:616452
HP:0001744	Splenomegaly	5184	PEPD	OMIM:170100
HP:0001744	Splenomegaly	5184	PEPD	ORPHA:742
HP:0001744	Splenomegaly	84936	ZFYVE19	OMIM:619849
HP:0001744	Splenomegaly	10730	YME1L1	OMIM:617302
HP:0001744	Splenomegaly	55768	NGLY1	ORPHA:404454
HP:0001744	Splenomegaly	1536	CYBB	ORPHA:379
HP:0001744	Splenomegaly	1536	CYBB	OMIM:306400
HP:0001744	Splenomegaly	4688	NCF2	ORPHA:379
HP:0001744	Splenomegaly	4688	NCF2	OMIM:233710
HP:0001744	Splenomegaly	1535	CYBA	ORPHA:379
HP:0001744	Splenomegaly	1535	CYBA	OMIM:233690
HP:0001744	Splenomegaly	4689	NCF4	ORPHA:379
HP:0001744	Splenomegaly	653361	NCF1	ORPHA:379
HP:0001744	Splenomegaly	653361	NCF1	OMIM:233700
HP:0001744	Splenomegaly	23495	TNFRSF13B	OMIM:240500
HP:0001744	Splenomegaly	23495	TNFRSF13B	ORPHA:1572
HP:0001744	Splenomegaly	115650	TNFRSF13C	OMIM:240500
HP:0001744	Splenomegaly	115650	TNFRSF13C	ORPHA:1572
HP:0001744	Splenomegaly	1380	CR2	OMIM:240500
HP:0001744	Splenomegaly	1380	CR2	ORPHA:1572
HP:0001744	Splenomegaly	1380	CR2	OMIM:614699
HP:0001744	Splenomegaly	29851	ICOS	OMIM:240500
HP:0001744	Splenomegaly	29851	ICOS	OMIM:607594
HP:0001744	Splenomegaly	29851	ICOS	ORPHA:1572
HP:0001744	Splenomegaly	930	CD19	OMIM:240500
HP:0001744	Splenomegaly	930	CD19	ORPHA:1572
HP:0001744	Splenomegaly	60561	RINT1	OMIM:618641
HP:0001744	Splenomegaly	1493	CTLA4	OMIM:616100
HP:0001744	Splenomegaly	1493	CTLA4	ORPHA:3162
HP:0001744	Splenomegaly	1493	CTLA4	ORPHA:2584
HP:0001744	Splenomegaly	54567	DLL4	OMIM:616589
HP:0001744	Splenomegaly	1716	DGUOK	OMIM:251880
HP:0001744	Splenomegaly	1716	DGUOK	OMIM:617068
HP:0001744	Splenomegaly	1441	CSF3R	OMIM:162830
HP:0001744	Splenomegaly	2035	EPB41	ORPHA:288
HP:0001744	Splenomegaly	2035	EPB41	OMIM:611804
HP:0001744	Splenomegaly	2995	GYPC	ORPHA:288
HP:0001744	Splenomegaly	6710	SPTB	ORPHA:288
HP:0001744	Splenomegaly	6710	SPTB	ORPHA:822
HP:0001744	Splenomegaly	6710	SPTB	OMIM:616649
HP:0001744	Splenomegaly	6708	SPTA1	ORPHA:288
HP:0001744	Splenomegaly	6708	SPTA1	ORPHA:822
HP:0001744	Splenomegaly	28755	TRAC	OMIM:615387
HP:0001744	Splenomegaly	2623	GATA1	OMIM:314050
HP:0001744	Splenomegaly	2623	GATA1	ORPHA:231393
HP:0001744	Splenomegaly	2623	GATA1	ORPHA:79277
HP:0001744	Splenomegaly	1371	CPOX	OMIM:618892
HP:0001744	Splenomegaly	1371	CPOX	OMIM:121300
HP:0001744	Splenomegaly	80739	MPIG6B	OMIM:617441
HP:0001744	Splenomegaly	4645	MYO5B	OMIM:619868
HP:0001744	Splenomegaly	3039	HBA1	ORPHA:163596
HP:0001744	Splenomegaly	3039	HBA1	OMIM:613978
HP:0001744	Splenomegaly	3040	HBA2	ORPHA:163596
HP:0001744	Splenomegaly	3040	HBA2	OMIM:613978
HP:0001744	Splenomegaly	10019	SH2B3	OMIM:133100
HP:0001744	Splenomegaly	10019	SH2B3	ORPHA:3318
HP:0001744	Splenomegaly	10019	SH2B3	OMIM:187950
HP:0001744	Splenomegaly	10019	SH2B3	OMIM:254450
HP:0001744	Splenomegaly	2057	EPOR	OMIM:133100
HP:0001744	Splenomegaly	3047	HBG1	ORPHA:46532
HP:0001744	Splenomegaly	3047	HBG1	ORPHA:251380
HP:0001744	Splenomegaly	3048	HBG2	ORPHA:46532
HP:0001744	Splenomegaly	3048	HBG2	ORPHA:251380
HP:0001744	Splenomegaly	595	CCND1	ORPHA:29073
HP:0001744	Splenomegaly	595	CCND1	ORPHA:52416
HP:0001744	Splenomegaly	54914	FOCAD	OMIM:619991
HP:0001744	Splenomegaly	27125	AFF4	OMIM:616368
HP:0001744	Splenomegaly	5295	PIK3R1	OMIM:616005
HP:0001744	Splenomegaly	286	ANK1	ORPHA:251066
HP:0001744	Splenomegaly	286	ANK1	OMIM:182900
HP:0001744	Splenomegaly	286	ANK1	ORPHA:822
HP:0001744	Splenomegaly	285362	SUMF1	OMIM:272200
HP:0001744	Splenomegaly	285362	SUMF1	ORPHA:585
HP:0001744	Splenomegaly	64421	DCLRE1C	OMIM:603554
HP:0001744	Splenomegaly	64421	DCLRE1C	OMIM:602450
HP:0001744	Splenomegaly	64421	DCLRE1C	ORPHA:39041
HP:0001744	Splenomegaly	2990	GUSB	ORPHA:584
HP:0001744	Splenomegaly	2990	GUSB	OMIM:253220
HP:0001744	Splenomegaly	8676	STX11	OMIM:603552
HP:0001744	Splenomegaly	8676	STX11	ORPHA:540
HP:0001744	Splenomegaly	5244	ABCB4	OMIM:602347
HP:0001744	Splenomegaly	11311	VPS45	OMIM:615285
HP:0001744	Splenomegaly	2542	SLC37A4	OMIM:619525
HP:0001744	Splenomegaly	2542	SLC37A4	OMIM:232220
HP:0001744	Splenomegaly	540	ATP7B	OMIM:277900
HP:0001744	Splenomegaly	540	ATP7B	ORPHA:905
HP:0001744	Splenomegaly	2683	B4GALT1	ORPHA:79332
HP:0001744	Splenomegaly	4000	LMNA	ORPHA:280365
HP:0001744	Splenomegaly	4000	LMNA	ORPHA:2348
HP:0001744	Splenomegaly	2239	GPC4	ORPHA:373
HP:0001744	Splenomegaly	2239	GPC4	OMIM:312870
HP:0001744	Splenomegaly	2719	GPC3	ORPHA:373
HP:0001744	Splenomegaly	2719	GPC3	OMIM:312870
HP:0001744	Splenomegaly	2153	F5	ORPHA:131
HP:0001744	Splenomegaly	5692	PSMB4	OMIM:617591
HP:0001744	Splenomegaly	5698	PSMB9	OMIM:617591
HP:0001744	Splenomegaly	79989	IFT56	OMIM:619534
HP:0001744	Splenomegaly	5286	PIK3C2A	OMIM:618440
HP:0001744	Splenomegaly	8565	YARS1	OMIM:619418
HP:0001744	Splenomegaly	4851	NOTCH1	OMIM:616028
HP:0001744	Splenomegaly	654	BMP6	ORPHA:465508
HP:0001744	Splenomegaly	3077	HFE	ORPHA:465508
HP:0001744	Splenomegaly	3077	HFE	OMIM:235200
HP:0001744	Splenomegaly	54532	USP53	OMIM:619658
HP:0001744	Splenomegaly	2184	FAH	OMIM:276700
HP:0001744	Splenomegaly	2184	FAH	ORPHA:882
HP:0001744	Splenomegaly	64127	NOD2	ORPHA:90340
HP:0001744	Splenomegaly	51311	TLR8	OMIM:301078
HP:0001744	Splenomegaly	4615	MYD88	ORPHA:33226
HP:0001744	Splenomegaly	54903	MKS1	OMIM:249000
HP:0001744	Splenomegaly	5825	ABCD3	OMIM:616278
HP:0001744	Splenomegaly	5256	PHKA2	ORPHA:264580
HP:0001744	Splenomegaly	5256	PHKA2	OMIM:306000
HP:0001744	Splenomegaly	5261	PHKG2	ORPHA:264580
HP:0001744	Splenomegaly	5261	PHKG2	OMIM:613027
HP:0001744	Splenomegaly	344	APOC2	OMIM:207750
HP:0001744	Splenomegaly	5277	PIGA	OMIM:301072
HP:0001744	Splenomegaly	846	CASR	OMIM:239200
HP:0001744	Splenomegaly	846	CASR	ORPHA:417
HP:0001744	Splenomegaly	4594	MMUT	ORPHA:79312
HP:0001744	Splenomegaly	950	SCARB2	ORPHA:77259
HP:0001744	Splenomegaly	149233	IL23R	ORPHA:117
HP:0001744	Splenomegaly	3586	IL10	ORPHA:117
HP:0001744	Splenomegaly	1230	CCR1	ORPHA:117
HP:0001744	Splenomegaly	355	FAS	ORPHA:117
HP:0001744	Splenomegaly	355	FAS	ORPHA:3261
HP:0001744	Splenomegaly	355	FAS	OMIM:601859
HP:0001744	Splenomegaly	3592	IL12A	ORPHA:117
HP:0001744	Splenomegaly	101928376	IL12A-AS1	ORPHA:117
HP:0001744	Splenomegaly	3106	HLA-B	ORPHA:117
HP:0001744	Splenomegaly	7099	TLR4	ORPHA:117
HP:0001744	Splenomegaly	720	C4A	ORPHA:117
HP:0001744	Splenomegaly	337867	UBAC2	ORPHA:117
HP:0001744	Splenomegaly	51752	ERAP1	ORPHA:117
HP:0001744	Splenomegaly	8302	KLRC4	ORPHA:117
HP:0001744	Splenomegaly	5290	PIK3CA	OMIM:612918
HP:0001744	Splenomegaly	6448	SGSH	OMIM:252900
HP:0001744	Splenomegaly	331	XIAP	OMIM:300635
HP:0001744	Splenomegaly	331	XIAP	OMIM:308240
HP:0001744	Splenomegaly	22806	IKZF3	OMIM:619437
HP:0001744	Splenomegaly	6916	TBXAS1	ORPHA:1802
HP:0001744	Splenomegaly	596	BCL2	ORPHA:545
HP:0001744	Splenomegaly	3492	IGH	ORPHA:545
HP:0001744	Splenomegaly	3492	IGH	ORPHA:52416
HP:0001744	Splenomegaly	3123	HLA-DRB1	ORPHA:545
HP:0001744	Splenomegaly	3123	HLA-DRB1	ORPHA:85414
HP:0001744	Splenomegaly	3123	HLA-DRB1	OMIM:181000
HP:0001744	Splenomegaly	604	BCL6	ORPHA:545
HP:0001744	Splenomegaly	959	CD40LG	OMIM:308230
HP:0001744	Splenomegaly	23451	SF3B1	ORPHA:75564
HP:0001744	Splenomegaly	53335	BCL11A	ORPHA:251380
HP:0001744	Splenomegaly	29887	SNX10	ORPHA:667
HP:0001744	Splenomegaly	29887	SNX10	OMIM:615085
HP:0001744	Splenomegaly	5009	OTC	ORPHA:664
HP:0001744	Splenomegaly	7372	UMPS	ORPHA:30
HP:0001744	Splenomegaly	58484	NLRC4	OMIM:616050
HP:0001744	Splenomegaly	57104	PNPLA2	ORPHA:565612
HP:0001744	Splenomegaly	22861	NLRP1	OMIM:617388
HP:0001744	Splenomegaly	5660	PSAP	OMIM:611721
HP:0001744	Splenomegaly	5660	PSAP	OMIM:610539
HP:0001744	Splenomegaly	5660	PSAP	ORPHA:139406
HP:0001744	Splenomegaly	55503	TRPV6	ORPHA:417
HP:0001744	Splenomegaly	7132	TNFRSF1A	ORPHA:32960
HP:0001744	Splenomegaly	4068	SH2D1A	OMIM:308240
HP:0001744	Splenomegaly	23218	NBEAL2	OMIM:139090
HP:0001744	Splenomegaly	23218	NBEAL2	ORPHA:721
HP:0001744	Splenomegaly	84061	MAGT1	OMIM:300853
HP:0001744	Splenomegaly	537	ATP6AP1	OMIM:300972
HP:0001744	Splenomegaly	3756	KCNH1	OMIM:135500
HP:0001744	Splenomegaly	3756	KCNH1	ORPHA:3473
HP:0001744	Splenomegaly	3394	IRF8	OMIM:226990
HP:0001744	Splenomegaly	6718	AKR1D1	OMIM:235555
HP:0001744	Splenomegaly	4864	NPC1	OMIM:257220
HP:0001744	Splenomegaly	1312	COMT	ORPHA:567
HP:0001744	Splenomegaly	221037	JMJD1C	ORPHA:567
HP:0001744	Splenomegaly	2812	GP1BB	ORPHA:567
HP:0001744	Splenomegaly	6239	RREB1	ORPHA:567
HP:0001744	Splenomegaly	6899	TBX1	ORPHA:567
HP:0001744	Splenomegaly	6899	TBX1	OMIM:188400
HP:0001744	Splenomegaly	7290	HIRA	ORPHA:567
HP:0001744	Splenomegaly	9632	SEC24C	ORPHA:567
HP:0001744	Splenomegaly	7353	UFD1	ORPHA:567
HP:0001744	Splenomegaly	421	ARVCF	ORPHA:567
HP:0001744	Splenomegaly	7389	UROD	ORPHA:95159
HP:0001744	Splenomegaly	212	ALAS2	ORPHA:75563
HP:0001744	Splenomegaly	55630	SLC39A4	OMIM:201100
HP:0001744	Splenomegaly	546	ATRX	ORPHA:231401
HP:0001744	Splenomegaly	55340	GIMAP5	OMIM:619463
HP:0001744	Splenomegaly	8883	NAE1	OMIM:620210
HP:0001744	Splenomegaly	84701	COX4I2	OMIM:612714
HP:0001744	Splenomegaly	650	BMP2	OMIM:235200
HP:0001744	Splenomegaly	8943	AP3D1	OMIM:617050
HP:0001744	Splenomegaly	57003	CCDC47	OMIM:618268
HP:0001744	Splenomegaly	51095	TRNT1	OMIM:616084
HP:0001744	Splenomegaly	6023	RMRP	ORPHA:39041
HP:0001744	Splenomegaly	55636	CHD7	ORPHA:39041
HP:0001744	Splenomegaly	3981	LIG4	ORPHA:39041
HP:0001744	Splenomegaly	100	ADA	ORPHA:39041
HP:0001744	Splenomegaly	100	ADA	OMIM:102700
HP:0001744	Splenomegaly	3561	IL2RG	ORPHA:39041
HP:0001744	Splenomegaly	207	AKT1	ORPHA:744
HP:0001744	Splenomegaly	207	AKT1	OMIM:176920
HP:0001744	Splenomegaly	7504	XK	OMIM:300842
HP:0001744	Splenomegaly	10483	SEC23B	OMIM:224100
HP:0001744	Splenomegaly	60468	BACH2	OMIM:618394
HP:0001744	Splenomegaly	226	ALDOA	OMIM:611881
HP:0001744	Splenomegaly	3557	IL1RN	OMIM:612852
HP:0001744	Splenomegaly	91662	NLRP12	OMIM:611762
HP:0001744	Splenomegaly	2799	GNS	OMIM:252940
HP:0001744	Splenomegaly	5264	PHYH	ORPHA:773
HP:0001744	Splenomegaly	5191	PEX7	ORPHA:773
HP:0001744	Splenomegaly	940	CD28	ORPHA:3162
HP:0001744	Splenomegaly	940	CD28	ORPHA:2584
HP:0001744	Splenomegaly	7133	TNFRSF1B	ORPHA:3162
HP:0001744	Splenomegaly	7133	TNFRSF1B	ORPHA:2584
HP:0001744	Splenomegaly	7390	UROS	OMIM:263700
HP:0001744	Splenomegaly	7390	UROS	ORPHA:79277
HP:0001744	Splenomegaly	4938	OAS1	OMIM:618042
HP:0001744	Splenomegaly	8651	SOCS1	OMIM:619375
HP:0001744	Splenomegaly	3295	HSD17B4	OMIM:261515
HP:0001744	Splenomegaly	138050	HGSNAT	OMIM:252930
HP:0001744	Splenomegaly	5313	PKLR	ORPHA:766
HP:0001744	Splenomegaly	5313	PKLR	OMIM:266200
HP:0001744	Splenomegaly	6850	SYK	OMIM:619381
HP:0001744	Splenomegaly	613	BCR	ORPHA:521
HP:0001744	Splenomegaly	25	ABL1	ORPHA:521
HP:0001744	Splenomegaly	51626	DYNC2LI1	OMIM:617088
HP:0001744	Splenomegaly	5257	PHKB	OMIM:261750
HP:0001744	Splenomegaly	5257	PHKB	ORPHA:79240
HP:0001744	Splenomegaly	146059	CDAN1	OMIM:224120
HP:0001744	Splenomegaly	9652	SKIC3	ORPHA:84064
HP:0001744	Splenomegaly	9652	SKIC3	OMIM:222470
HP:0001744	Splenomegaly	6499	SKIC2	ORPHA:84064
HP:0001744	Splenomegaly	5696	PSMB8	OMIM:256040
HP:0001744	Splenomegaly	4669	NAGLU	OMIM:252920
HP:0001744	Splenomegaly	26276	VPS33B	OMIM:620010
HP:0001744	Splenomegaly	7066	THPO	ORPHA:71493
HP:0001744	Splenomegaly	7066	THPO	OMIM:187950
HP:0001744	Splenomegaly	356	FASLG	ORPHA:3261
HP:0001744	Splenomegaly	356	FASLG	OMIM:601859
HP:0001744	Splenomegaly	843	CASP10	ORPHA:3261
HP:0001744	Splenomegaly	843	CASP10	OMIM:603909
HP:0001744	Splenomegaly	2811	GP1BA	OMIM:153670
HP:0001744	Splenomegaly	144811	LACC1	ORPHA:85414
HP:0001744	Splenomegaly	4282	MIF	ORPHA:85414
HP:0001744	Splenomegaly	3569	IL6	ORPHA:85414
HP:0001744	Splenomegaly	55532	SLC30A10	ORPHA:309854
HP:0001744	Splenomegaly	673	BRAF	OMIM:115150
HP:0001744	Splenomegaly	57539	WDR35	OMIM:613610
HP:0001744	Splenomegaly	3815	KIT	ORPHA:98849
HP:0001744	Splenomegaly	987	LRBA	OMIM:614700
HP:0001744	Splenomegaly	2038	EPB42	ORPHA:822
HP:0001744	Splenomegaly	2038	EPB42	OMIM:612690
HP:0001744	Splenomegaly	23149	FCHO1	OMIM:619164
HP:0001744	Splenomegaly	1352	COX10	OMIM:619046
HP:0001744	Splenomegaly	841	CASP8	OMIM:607271
HP:0001744	Splenomegaly	8647	ABCB11	OMIM:601847
HP:0001744	Splenomegaly	5699	PSMB10	OMIM:619175
HP:0001744	Splenomegaly	348	APOE	OMIM:269600
HP:0001744	Splenomegaly	348	APOE	ORPHA:158029
HP:0001744	Splenomegaly	5468	PPARG	ORPHA:79083
HP:0001744	Splenomegaly	686	BTD	OMIM:253260
HP:0001744	Splenomegaly	8792	TNFRSF11A	OMIM:612301
HP:0001744	Splenomegaly	10555	AGPAT2	OMIM:608594
HP:0001744	Splenomegaly	56984	PSMG2	OMIM:619183
HP:0001744	Splenomegaly	1717	DHCR7	OMIM:270400
HP:0001744	Splenomegaly	23230	VPS13A	ORPHA:2388
HP:0001744	Splenomegaly	526	ATP6V1B2	ORPHA:3473
HP:0001744	Splenomegaly	3782	KCNN3	ORPHA:3473
HP:0001744	Splenomegaly	175	AGA	ORPHA:93
HP:0001744	Splenomegaly	4853	NOTCH2	ORPHA:955
HP:0001744	Splenomegaly	338328	GPIHBP1	OMIM:615947
HP:0001744	Splenomegaly	80216	ALPK1	OMIM:614979
HP:0001744	Splenomegaly	4069	LYZ	OMIM:105200
HP:0001744	Splenomegaly	2243	FGA	OMIM:105200
HP:0001744	Splenomegaly	335	APOA1	OMIM:105200
HP:0001744	Splenomegaly	567	B2M	OMIM:105200
HP:0001744	Splenomegaly	472	ATM	ORPHA:52416
HP:0001744	Splenomegaly	9508	ADAMTS3	ORPHA:2136
HP:0001744	Splenomegaly	147372	CCBE1	ORPHA:2136
HP:0001744	Splenomegaly	79633	FAT4	ORPHA:2136
HP:0001744	Splenomegaly	6609	SMPD1	OMIM:257200
HP:0001744	Splenomegaly	6609	SMPD1	ORPHA:77293
HP:0001744	Splenomegaly	6609	SMPD1	OMIM:607616
HP:0001744	Splenomegaly	2624	GATA2	ORPHA:3226
HP:0001744	Splenomegaly	3662	IRF4	ORPHA:3452
HP:0001744	Splenomegaly	50943	FOXP3	ORPHA:37042
HP:0001744	Splenomegaly	50628	GEMIN4	OMIM:617913
HP:0001744	Splenomegaly	57817	HAMP	OMIM:613313
HP:0001744	Splenomegaly	9780	PIEZO1	ORPHA:3202
HP:0001744	Splenomegaly	9780	PIEZO1	OMIM:616843
HP:0001744	Splenomegaly	9780	PIEZO1	OMIM:194380
HP:0001744	Splenomegaly	64241	ABCG8	OMIM:210250
HP:0001744	Splenomegaly	93183	PIGM	OMIM:610293
HP:0001744	Splenomegaly	284119	CAVIN1	OMIM:613327
HP:0001744	Splenomegaly	219285	SAMD9L	ORPHA:2585
HP:0001744	Splenomegaly	56052	ALG1	OMIM:608540
HP:0001744	Splenomegaly	7167	TPI1	OMIM:615512
HP:0001744	Splenomegaly	26160	IFT172	OMIM:615630
HP:0001744	Splenomegaly	84529	CDIN1	OMIM:615631
HP:0001744	Splenomegaly	79848	CSPP1	OMIM:615636
HP:0001744	Splenomegaly	5293	PIK3CD	OMIM:615513
HP:0001744	Splenomegaly	5156	PDGFRA	OMIM:607685
HP:0001744	Splenomegaly	1776	DNASE1L3	ORPHA:36412
HP:0001744	Splenomegaly	4173	MCM4	OMIM:609981
HP:0001744	Splenomegaly	79650	USB1	OMIM:604173
HP:0001744	Splenomegaly	79650	USB1	ORPHA:1775
HP:0001744	Splenomegaly	411	ARSB	OMIM:253200
HP:0001744	Splenomegaly	669	BPGM	OMIM:222800
HP:0001744	Splenomegaly	9948	WDR1	OMIM:150550
HP:0001744	Splenomegaly	4792	NFKBIA	OMIM:612132
HP:0001744	Splenomegaly	169792	GLIS3	OMIM:610199
HP:0001744	Splenomegaly	9076	CLDN1	ORPHA:59303
HP:0001744	Splenomegaly	9076	CLDN1	OMIM:607626
HP:0001744	Splenomegaly	2821	GPI	OMIM:613470
HP:0001744	Splenomegaly	6097	RORC	OMIM:616622
HP:0001744	Splenomegaly	10616	RBCK1	OMIM:615895
HP:0001744	Splenomegaly	56244	BTNL2	OMIM:612387
HP:0001744	Splenomegaly	3248	HPGD	ORPHA:2796
HP:0001744	Splenomegaly	6578	SLCO2A1	ORPHA:2796
HP:0001744	Splenomegaly	57511	COG6	OMIM:614576
HP:0001744	Splenomegaly	56623	INPP5E	ORPHA:1454
HP:0001744	Splenomegaly	23322	RPGRIP1L	ORPHA:1454
HP:0001744	Splenomegaly	57545	CC2D2A	ORPHA:1454
HP:0001744	Splenomegaly	4790	NFKB1	ORPHA:1572
HP:0001744	Splenomegaly	4791	NFKB2	ORPHA:1572
HP:0001744	Splenomegaly	8742	TNFSF12	ORPHA:1572
HP:0001744	Splenomegaly	931	MS4A1	ORPHA:1572
HP:0001744	Splenomegaly	975	CD81	ORPHA:1572
HP:0001744	Splenomegaly	359948	IRF2BP2	ORPHA:1572
HP:0001744	Splenomegaly	2328	FMO3	OMIM:602079
HP:0001744	Splenomegaly	5265	SERPINA1	OMIM:613490
HP:0001744	Splenomegaly	10367	MICU1	OMIM:615673
HP:0001744	Splenomegaly	26580	BSCL2	OMIM:269700
HP:0001744	Splenomegaly	3702	ITK	OMIM:613011
HP:0001744	Splenomegaly	2517	FUCA1	OMIM:230000
HP:0001744	Splenomegaly	2548	GAA	OMIM:232300
HP:0001744	Splenomegaly	5205	ATP8B1	OMIM:211600
HP:0001744	Splenomegaly	2065	ERBB3	OMIM:133180
HP:0001744	Splenomegaly	1718	DHCR24	ORPHA:35107
HP:0001744	Splenomegaly	4893	NRAS	OMIM:614470
HP:0001744	Splenomegaly	3098	HK1	OMIM:235700
HP:0001744	Splenomegaly	3931	LCAT	ORPHA:79292
HP:0001744	Splenomegaly	100506658	OCLN	OMIM:251290
HP:0001744	Splenomegaly	10577	NPC2	OMIM:607625
HP:0001744	Splenomegaly	2819	GPD1	OMIM:614480
HP:0001744	Splenomegaly	26503	SLC17A5	OMIM:269920
HP:0001744	Splenomegaly	27040	LAT	OMIM:617514
HP:0001744	Splenomegaly	4724	NDUFS4	OMIM:252010
HP:0001744	Splenomegaly	81570	CLPB	OMIM:619813
HP:0001744	Splenomegaly	8737	RIPK1	OMIM:618852
HP:0001744	Splenomegaly	10464	PIBF1	OMIM:617767
HP:0001744	Splenomegaly	80169	CTC1	ORPHA:1775
HP:0001744	Splenomegaly	26277	TINF2	ORPHA:1775
HP:0001744	Splenomegaly	55651	NHP2	ORPHA:1775
HP:0001744	Splenomegaly	55135	WRAP53	ORPHA:1775
HP:0001744	Splenomegaly	51750	RTEL1	ORPHA:1775
HP:0001744	Splenomegaly	4869	NPM1	ORPHA:1775
HP:0001744	Splenomegaly	7012	TERC	ORPHA:1775
HP:0001744	Splenomegaly	55505	NOP10	ORPHA:1775
HP:0001744	Splenomegaly	5073	PARN	ORPHA:1775
HP:0001744	Splenomegaly	7015	TERT	ORPHA:1775
HP:0001744	Splenomegaly	1736	DKC1	ORPHA:1775
HP:0001744	Splenomegaly	7298	TYMS	ORPHA:1775
HP:0001744	Splenomegaly	3636	INPPL1	ORPHA:2746
HP:0001744	Splenomegaly	6929	TCF3	OMIM:619824
HP:0001744	Splenomegaly	2582	GALE	OMIM:230350
HP:0001744	Splenomegaly	4598	MVK	OMIM:610377
HP:0001744	Splenomegaly	7174	TPP2	OMIM:619220
HP:0032114	Saccadic intrusion	23230	VPS13A	ORPHA:2388
HP:0032114	Saccadic intrusion	23345	SYNE1	ORPHA:88644
HP:0032118	Retinitis	51134	CEP83	OMIM:615862
HP:0032118	Retinitis	26005	C2CD3	OMIM:615948
HP:0032118	Retinitis	6017	RLBP1	ORPHA:85128
HP:0012109	Angle closure glaucoma	4041	LRP5	ORPHA:2788
HP:0012109	Angle closure glaucoma	26022	TMEM98	OMIM:615972
HP:0012109	Angle closure glaucoma	4693	NDP	ORPHA:91495
HP:0012109	Angle closure glaucoma	220202	ATOH7	ORPHA:91495
HP:0012109	Angle closure glaucoma	8322	FZD4	ORPHA:91495
HP:0012109	Angle closure glaucoma	80781	COL18A1	OMIM:618880
HP:0032120	Abnormal peripheral nervous system physiology	79784	MYH14	ORPHA:397744
HP:0032120	Abnormal peripheral nervous system physiology	9131	AIFM1	ORPHA:101078
HP:0032120	Abnormal peripheral nervous system physiology	410	ARSA	ORPHA:309256
HP:0032120	Abnormal peripheral nervous system physiology	410	ARSA	ORPHA:309271
HP:0032120	Abnormal peripheral nervous system physiology	410	ARSA	ORPHA:309263
HP:0032120	Abnormal peripheral nervous system physiology	410	ARSA	OMIM:250100
HP:0032120	Abnormal peripheral nervous system physiology	5190	PEX6	OMIM:614863
HP:0032120	Abnormal peripheral nervous system physiology	9782	MATR3	OMIM:606070
HP:0032120	Abnormal peripheral nervous system physiology	9782	MATR3	ORPHA:600
HP:0032120	Abnormal peripheral nervous system physiology	7167	TPI1	ORPHA:868
HP:0032120	Abnormal peripheral nervous system physiology	10516	FBLN5	OMIM:608895
HP:0032120	Abnormal peripheral nervous system physiology	6305	SBF1	OMIM:615284
HP:0032120	Abnormal peripheral nervous system physiology	23114	NFASC	OMIM:618356
HP:0032120	Abnormal peripheral nervous system physiology	25814	ATXN10	OMIM:603516
HP:0032120	Abnormal peripheral nervous system physiology	1785	DNM2	OMIM:615368
HP:0032120	Abnormal peripheral nervous system physiology	56947	MFF	ORPHA:485421
HP:0032120	Abnormal peripheral nervous system physiology	5165	PDK3	ORPHA:352675
HP:0032120	Abnormal peripheral nervous system physiology	1130	LYST	OMIM:214500
HP:0032120	Abnormal peripheral nervous system physiology	1130	LYST	ORPHA:167
HP:0032120	Abnormal peripheral nervous system physiology	4758	NEU1	ORPHA:812
HP:0032120	Abnormal peripheral nervous system physiology	3508	IGHMBP2	OMIM:604320
HP:0032120	Abnormal peripheral nervous system physiology	540	ATP7B	OMIM:277900
HP:0032120	Abnormal peripheral nervous system physiology	10166	SLC25A15	OMIM:238970
HP:0032120	Abnormal peripheral nervous system physiology	87178	PNPT1	ORPHA:319514
HP:0032120	Abnormal peripheral nervous system physiology	87178	PNPT1	OMIM:614932
HP:0032120	Abnormal peripheral nervous system physiology	219285	SAMD9L	OMIM:159550
HP:0032120	Abnormal peripheral nervous system physiology	84340	GFM2	ORPHA:565624
HP:0032120	Abnormal peripheral nervous system physiology	3295	HSD17B4	OMIM:261515
HP:0032120	Abnormal peripheral nervous system physiology	9639	ARHGEF10	OMIM:608236
HP:0032120	Abnormal peripheral nervous system physiology	2200	FBN1	ORPHA:969
HP:0032120	Abnormal peripheral nervous system physiology	4054	LTBP3	ORPHA:969
HP:0032120	Abnormal peripheral nervous system physiology	26090	ABHD12	OMIM:612674
HP:0032120	Abnormal peripheral nervous system physiology	2071	ERCC3	OMIM:610651
HP:0032120	Abnormal peripheral nervous system physiology	3908	LAMA2	OMIM:618138
HP:0032120	Abnormal peripheral nervous system physiology	8803	SUCLA2	ORPHA:1933
HP:0032120	Abnormal peripheral nervous system physiology	10501	SEMA6B	OMIM:618876
HP:0032120	Abnormal peripheral nervous system physiology	378884	NHLRC1	ORPHA:501
HP:0032120	Abnormal peripheral nervous system physiology	7957	EPM2A	ORPHA:501
HP:0032120	Abnormal peripheral nervous system physiology	401474	SAMD12	OMIM:601068
HP:0032120	Abnormal peripheral nervous system physiology	55689	YEATS2	OMIM:615127
HP:0032120	Abnormal peripheral nervous system physiology	56910	STARD7	OMIM:607876
HP:0032120	Abnormal peripheral nervous system physiology	10299	MARCHF6	OMIM:613608
HP:0032120	Abnormal peripheral nervous system physiology	285362	SUMF1	ORPHA:585
HP:0032120	Abnormal peripheral nervous system physiology	4914	NTRK1	ORPHA:642
HP:0032120	Abnormal peripheral nervous system physiology	5354	PLP1	ORPHA:280234
HP:0032120	Abnormal peripheral nervous system physiology	10342	TFG	ORPHA:431329
HP:0032120	Abnormal peripheral nervous system physiology	51324	SPG21	ORPHA:101001
HP:0032120	Abnormal peripheral nervous system physiology	9150	CTDP1	ORPHA:48431
HP:0032120	Abnormal peripheral nervous system physiology	65250	CPLANE1	ORPHA:65684
HP:0032120	Abnormal peripheral nervous system physiology	57562	CEP126	ORPHA:65684
HP:0032120	Abnormal peripheral nervous system physiology	9342	SNAP29	ORPHA:66631
HP:0032120	Abnormal peripheral nervous system physiology	1161	ERCC8	ORPHA:90324
HP:0032120	Abnormal peripheral nervous system physiology	1161	ERCC8	ORPHA:90321
HP:0032120	Abnormal peripheral nervous system physiology	2074	ERCC6	ORPHA:90324
HP:0032120	Abnormal peripheral nervous system physiology	2074	ERCC6	ORPHA:90321
HP:0032120	Abnormal peripheral nervous system physiology	8398	PLA2G6	ORPHA:35069
HP:0032120	Abnormal peripheral nervous system physiology	100134444	KCNJ18	ORPHA:79102
HP:0032120	Abnormal peripheral nervous system physiology	2556	GABRA3	ORPHA:79102
HP:0032120	Abnormal peripheral nervous system physiology	779	CACNA1S	ORPHA:79102
HP:0032120	Abnormal peripheral nervous system physiology	50846	DHH	ORPHA:168563
HP:0032120	Abnormal peripheral nervous system physiology	2072	ERCC4	ORPHA:90321
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	OMIM:162500
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	OMIM:118300
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	OMIM:118220
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	OMIM:180800
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	ORPHA:640
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	OMIM:145900
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	ORPHA:3115
HP:0032120	Abnormal peripheral nervous system physiology	5376	PMP22	ORPHA:101081
HP:0032120	Abnormal peripheral nervous system physiology	4359	MPZ	OMIM:618184
HP:0032120	Abnormal peripheral nervous system physiology	4359	MPZ	OMIM:180800
HP:0032120	Abnormal peripheral nervous system physiology	4359	MPZ	OMIM:118200
HP:0032120	Abnormal peripheral nervous system physiology	4359	MPZ	OMIM:145900
HP:0032120	Abnormal peripheral nervous system physiology	4359	MPZ	ORPHA:3115
HP:0032120	Abnormal peripheral nervous system physiology	4000	LMNA	OMIM:605588
HP:0032120	Abnormal peripheral nervous system physiology	4000	LMNA	ORPHA:98856
HP:0032120	Abnormal peripheral nervous system physiology	11284	PNKP	OMIM:605589
HP:0032120	Abnormal peripheral nervous system physiology	81857	MED25	OMIM:605589
HP:0032120	Abnormal peripheral nervous system physiology	7384	UQCRC1	OMIM:619279
HP:0032120	Abnormal peripheral nervous system physiology	8506	CNTNAP1	OMIM:618186
HP:0032120	Abnormal peripheral nervous system physiology	22948	CCT5	ORPHA:139578
HP:0032120	Abnormal peripheral nervous system physiology	22948	CCT5	OMIM:256840
HP:0032120	Abnormal peripheral nervous system physiology	22880	MORC2	OMIM:616688
HP:0032120	Abnormal peripheral nervous system physiology	7415	VCP	OMIM:616687
HP:0032120	Abnormal peripheral nervous system physiology	9927	MFN2	OMIM:609260
HP:0032120	Abnormal peripheral nervous system physiology	9927	MFN2	OMIM:601152
HP:0032120	Abnormal peripheral nervous system physiology	50717	DCAF8	OMIM:610100
HP:0032120	Abnormal peripheral nervous system physiology	4747	NEFL	OMIM:607684
HP:0032120	Abnormal peripheral nervous system physiology	4747	NEFL	OMIM:607734
HP:0032120	Abnormal peripheral nervous system physiology	3315	HSPB1	OMIM:606595
HP:0032120	Abnormal peripheral nervous system physiology	9990	SLC12A6	OMIM:620068
HP:0032120	Abnormal peripheral nervous system physiology	9990	SLC12A6	OMIM:218000
HP:0032120	Abnormal peripheral nervous system physiology	8898	MTMR2	OMIM:601382
HP:0032120	Abnormal peripheral nervous system physiology	7879	RAB7A	OMIM:600882
HP:0032120	Abnormal peripheral nervous system physiology	57165	GJC2	OMIM:608804
HP:0032120	Abnormal peripheral nervous system physiology	1959	EGR2	OMIM:607678
HP:0032120	Abnormal peripheral nervous system physiology	1959	EGR2	OMIM:605253
HP:0032120	Abnormal peripheral nervous system physiology	1959	EGR2	OMIM:145900
HP:0032120	Abnormal peripheral nervous system physiology	54332	GDAP1	OMIM:607831
HP:0032120	Abnormal peripheral nervous system physiology	54332	GDAP1	OMIM:607706
HP:0032120	Abnormal peripheral nervous system physiology	54332	GDAP1	OMIM:214400
HP:0032120	Abnormal peripheral nervous system physiology	56704	JPH1	OMIM:607831
HP:0032120	Abnormal peripheral nervous system physiology	23095	KIF1B	OMIM:118210
HP:0032120	Abnormal peripheral nervous system physiology	6652	SORD	OMIM:618912
HP:0032120	Abnormal peripheral nervous system physiology	65055	REEP1	OMIM:614751
HP:0032120	Abnormal peripheral nervous system physiology	90678	LRSAM1	OMIM:614436
HP:0032120	Abnormal peripheral nervous system physiology	3710	ITPR3	OMIM:620111
HP:0032120	Abnormal peripheral nervous system physiology	81846	SBF2	OMIM:604563
HP:0032120	Abnormal peripheral nervous system physiology	8565	YARS1	OMIM:608323
HP:0032120	Abnormal peripheral nervous system physiology	9516	LITAF	OMIM:601098
HP:0032120	Abnormal peripheral nervous system physiology	26278	SACS	OMIM:270550
HP:0032120	Abnormal peripheral nervous system physiology	100996717	NOTCH2NLC	OMIM:603472
HP:0032120	Abnormal peripheral nervous system physiology	5428	POLG	ORPHA:298
HP:0032120	Abnormal peripheral nervous system physiology	1890	TYMP	ORPHA:298
HP:0032120	Abnormal peripheral nervous system physiology	3980	LIG3	ORPHA:298
HP:0032120	Abnormal peripheral nervous system physiology	50484	RRM2B	ORPHA:298
HP:0032120	Abnormal peripheral nervous system physiology	10558	SPTLC1	OMIM:162400
HP:0032120	Abnormal peripheral nervous system physiology	10280	SIGMAR1	OMIM:605726
HP:0032120	Abnormal peripheral nervous system physiology	23250	ATP11A	OMIM:619851
HP:0032120	Abnormal peripheral nervous system physiology	23321	TRIM2	OMIM:615490
HP:0032120	Abnormal peripheral nervous system physiology	57449	PLEKHG5	OMIM:615376
HP:0032120	Abnormal peripheral nervous system physiology	81545	FBXO38	OMIM:615575
HP:0032120	Abnormal peripheral nervous system physiology	5631	PRPS1	ORPHA:1187
HP:0032120	Abnormal peripheral nervous system physiology	259232	NALCN	OMIM:615419
HP:0032120	Abnormal peripheral nervous system physiology	26580	BSCL2	OMIM:270685
HP:0032120	Abnormal peripheral nervous system physiology	3098	HK1	ORPHA:99953
HP:0032120	Abnormal peripheral nervous system physiology	3098	HK1	OMIM:605285
HP:0032120	Abnormal peripheral nervous system physiology	10397	NDRG1	ORPHA:99950
HP:0032120	Abnormal peripheral nervous system physiology	5611	DNAJC3	OMIM:616192
HP:0032120	Abnormal peripheral nervous system physiology	51651	PTRH2	ORPHA:456312
HP:0032120	Abnormal peripheral nervous system physiology	84842	HPDL	OMIM:619026
HP:0032120	Abnormal peripheral nervous system physiology	2705	GJB1	OMIM:302800
HP:0032120	Abnormal peripheral nervous system physiology	9517	SPTLC2	OMIM:613640
HP:0032120	Abnormal peripheral nervous system physiology	57716	PRX	OMIM:614895
HP:0032120	Abnormal peripheral nervous system physiology	57716	PRX	OMIM:145900
HP:0032120	Abnormal peripheral nervous system physiology	16	AARS1	OMIM:613287
HP:0032120	Abnormal peripheral nervous system physiology	128637	TBC1D20	OMIM:615663
HP:0032120	Abnormal peripheral nervous system physiology	55775	TDP1	OMIM:607250
HP:0032120	Abnormal peripheral nervous system physiology	84668	HYCC1	OMIM:610532
HP:0032120	Abnormal peripheral nervous system physiology	23064	SETX	OMIM:606002
HP:0032120	Abnormal peripheral nervous system physiology	9896	FIG4	OMIM:611228
HP:0032120	Abnormal peripheral nervous system physiology	6342	SCP2	OMIM:613724
HP:0032120	Abnormal peripheral nervous system physiology	2395	FXN	ORPHA:95
HP:0032120	Abnormal peripheral nervous system physiology	6310	ATXN1	OMIM:164400
HP:0032120	Abnormal peripheral nervous system physiology	121512	FGD4	OMIM:609311
HP:0032120	Abnormal peripheral nervous system physiology	54463	RETREG1	OMIM:201300
HP:0032120	Abnormal peripheral nervous system physiology	65125	WNK1	OMIM:201300
HP:0032120	Abnormal peripheral nervous system physiology	6335	SCN9A	OMIM:201300
HP:0032120	Abnormal peripheral nervous system physiology	547	KIF1A	OMIM:201300
HP:0032120	Abnormal peripheral nervous system physiology	55768	NGLY1	OMIM:615273
HP:0032120	Abnormal peripheral nervous system physiology	91574	MTRFR	ORPHA:320375
HP:0032120	Abnormal peripheral nervous system physiology	10730	YME1L1	OMIM:617302
HP:0032120	Abnormal peripheral nervous system physiology	1678	TIMM8A	ORPHA:52368
HP:0032120	Abnormal peripheral nervous system physiology	9750	RIPOR2	OMIM:616515
HP:0032120	Abnormal peripheral nervous system physiology	9381	OTOF	OMIM:601071
HP:0032120	Abnormal peripheral nervous system physiology	7841	MOGS	ORPHA:79330
HP:0032120	Abnormal peripheral nervous system physiology	6663	SOX10	OMIM:609136
HP:0032120	Abnormal peripheral nervous system physiology	57731	SPTBN4	OMIM:617519
HP:0032120	Abnormal peripheral nervous system physiology	4976	OPA1	ORPHA:1215
HP:0032120	Abnormal peripheral nervous system physiology	79628	SH3TC2	OMIM:601596
HP:0032120	Abnormal peripheral nervous system physiology	2581	GALC	ORPHA:206443
HP:0032120	Abnormal peripheral nervous system physiology	2581	GALC	ORPHA:206448
HP:0032120	Abnormal peripheral nervous system physiology	2581	GALC	ORPHA:206436
HP:0032120	Abnormal peripheral nervous system physiology	5660	PSAP	ORPHA:206436
HP:0032120	Abnormal peripheral nervous system physiology	51501	HIKESHI	OMIM:616881
HP:0032120	Abnormal peripheral nervous system physiology	10682	EBP	ORPHA:401973
HP:0032120	Abnormal peripheral nervous system physiology	64802	NMNAT1	OMIM:619260
HP:0032120	Abnormal peripheral nervous system physiology	1910	EDNRB	OMIM:600501
HP:0032120	Abnormal peripheral nervous system physiology	81624	DIAPH3	OMIM:609129
HP:0032120	Abnormal peripheral nervous system physiology	4621	MYH3	OMIM:193700
HP:0032120	Abnormal peripheral nervous system physiology	9181	ARHGEF2	OMIM:617523
HP:0032120	Abnormal peripheral nervous system physiology	4001	LMNB1	ORPHA:99027
HP:0032120	Abnormal peripheral nervous system physiology	23230	VPS13A	ORPHA:2388
HP:0032120	Abnormal peripheral nervous system physiology	8449	DHX16	OMIM:618733
HP:0032120	Abnormal peripheral nervous system physiology	26353	HSPB8	OMIM:608673
HP:0032120	Abnormal peripheral nervous system physiology	25923	ATL3	ORPHA:36386
HP:0032120	Abnormal peripheral nervous system physiology	51062	ATL1	ORPHA:36386
HP:0032120	Abnormal peripheral nervous system physiology	57465	TBC1D24	OMIM:608105
HP:0032120	Abnormal peripheral nervous system physiology	57465	TBC1D24	ORPHA:163727
HP:0032120	Abnormal peripheral nervous system physiology	59341	TRPV4	OMIM:606071
HP:0032120	Abnormal peripheral nervous system physiology	5981	RFC1	OMIM:614575
HP:0032120	Abnormal peripheral nervous system physiology	4358	MPV17	OMIM:618400
HP:0032120	Abnormal peripheral nervous system physiology	127833	SYT2	OMIM:616040
HP:0032120	Abnormal peripheral nervous system physiology	4884	NPTX1	OMIM:620158
HP:0032120	Abnormal peripheral nervous system physiology	10049	DNAJB6	OMIM:603511
HP:0032120	Abnormal peripheral nervous system physiology	11117	EMILIN1	OMIM:620080
HP:0032120	Abnormal peripheral nervous system physiology	6843	VAMP1	OMIM:618323
HP:0032120	Abnormal peripheral nervous system physiology	5375	PMP2	OMIM:618279
HP:0032120	Abnormal peripheral nervous system physiology	7317	UBA1	OMIM:301830
HP:0032120	Abnormal peripheral nervous system physiology	57863	CADM3	OMIM:619519
HP:0032120	Abnormal peripheral nervous system physiology	3735	KARS1	OMIM:613641
HP:0032120	Abnormal peripheral nervous system physiology	57679	ALS2	OMIM:606353
HP:0032120	Abnormal peripheral nervous system physiology	1311	COMP	OMIM:619161
HP:0032120	Abnormal peripheral nervous system physiology	3094	HINT1	OMIM:137200
HP:0032120	Abnormal peripheral nervous system physiology	3425	IDUA	ORPHA:93474
HP:0032120	Abnormal peripheral nervous system physiology	3425	IDUA	ORPHA:93473
HP:0032120	Abnormal peripheral nervous system physiology	3425	IDUA	ORPHA:93476
HP:0032120	Abnormal peripheral nervous system physiology	10935	PRDX3	OMIM:619862
HP:0032120	Abnormal peripheral nervous system physiology	10743	RAI1	OMIM:182290
HP:0032120	Abnormal peripheral nervous system physiology	84466	MEGF10	OMIM:614399
HP:0032120	Abnormal peripheral nervous system physiology	60482	SLC5A7	OMIM:158580
HP:0032120	Abnormal peripheral nervous system physiology	2617	GARS1	ORPHA:139536
HP:0032120	Abnormal peripheral nervous system physiology	8560	DEGS1	OMIM:618404
HP:0032120	Abnormal peripheral nervous system physiology	400916	CHCHD10	ORPHA:276435
HP:0032120	Abnormal peripheral nervous system physiology	28982	FLVCR1	ORPHA:88628
HP:0032120	Abnormal peripheral nervous system physiology	1593	CYP27A1	OMIM:213700
HP:0032120	Abnormal peripheral nervous system physiology	7274	TTPA	OMIM:277460
HP:0032120	Abnormal peripheral nervous system physiology	215	ABCD1	ORPHA:139399
HP:0006270	Hypoplastic spleen	54809	SAMD9	OMIM:617053
HP:0006270	Hypoplastic spleen	55388	MCM10	OMIM:619313
HP:0006270	Hypoplastic spleen	5649	RELN	ORPHA:89844
HP:0006270	Hypoplastic spleen	10300	KATNB1	ORPHA:89844
HP:0006270	Hypoplastic spleen	54820	NDE1	ORPHA:89844
HP:0006270	Hypoplastic spleen	64220	STRA6	OMIM:601186
HP:0006270	Hypoplastic spleen	63901	FAM111A	OMIM:602361
HP:0006270	Hypoplastic spleen	6786	STIM1	OMIM:185070
HP:0001748	Polysplenia	7547	ZIC3	OMIM:306955
HP:0001748	Polysplenia	2239	GPC4	ORPHA:373
HP:0001748	Polysplenia	2239	GPC4	OMIM:312870
HP:0001748	Polysplenia	2719	GPC3	ORPHA:373
HP:0001748	Polysplenia	2719	GPC3	OMIM:312870
HP:0001748	Polysplenia	2657	GDF1	OMIM:208530
HP:0001748	Polysplenia	8565	YARS1	OMIM:619418
HP:0001748	Polysplenia	93	ACVR2B	OMIM:613751
HP:0001748	Polysplenia	57539	WDR35	OMIM:613610
HP:0001748	Polysplenia	50937	CDON	OMIM:614226
HP:0001748	Polysplenia	118856	MMP21	OMIM:616749
HP:0001748	Polysplenia	25981	DNAH1	ORPHA:244
HP:0001748	Polysplenia	115948	ODAD3	ORPHA:244
HP:0001748	Polysplenia	54768	HYDIN	ORPHA:244
HP:0001748	Polysplenia	352909	DNAAF3	ORPHA:244
HP:0001748	Polysplenia	27148	STK36	ORPHA:244
HP:0001748	Polysplenia	51314	NME8	ORPHA:244
HP:0001748	Polysplenia	92749	DRC1	ORPHA:244
HP:0001748	Polysplenia	54970	TTC12	ORPHA:244
HP:0001748	Polysplenia	152110	NEK10	ORPHA:244
HP:0001748	Polysplenia	8481	OFD1	ORPHA:244
HP:0001748	Polysplenia	2302	FOXJ1	ORPHA:244
HP:0001748	Polysplenia	221421	RSPH9	ORPHA:244
HP:0001748	Polysplenia	85478	CCDC65	ORPHA:244
HP:0001748	Polysplenia	55036	CCDC40	ORPHA:244
HP:0001748	Polysplenia	51364	ZMYND10	ORPHA:244
HP:0001748	Polysplenia	64446	DNAI2	ORPHA:244
HP:0001748	Polysplenia	6674	SPAG1	ORPHA:244
HP:0001748	Polysplenia	83544	DNAL1	ORPHA:244
HP:0001748	Polysplenia	89765	RSPH1	ORPHA:244
HP:0001748	Polysplenia	83538	ODAD4	ORPHA:244
HP:0001748	Polysplenia	200373	CFAP221	ORPHA:244
HP:0001748	Polysplenia	374407	DNAJB13	ORPHA:244
HP:0001748	Polysplenia	55172	DNAAF2	ORPHA:244
HP:0001748	Polysplenia	161582	DNAAF4	ORPHA:244
HP:0001748	Polysplenia	161582	DNAAF4	OMIM:615482
HP:0001748	Polysplenia	2622	GAS8	ORPHA:244
HP:0001748	Polysplenia	23639	DNAAF11	ORPHA:244
HP:0001748	Polysplenia	27019	DNAI1	ORPHA:244
HP:0001748	Polysplenia	345895	RSPH4A	ORPHA:244
HP:0001748	Polysplenia	54919	DNAAF5	ORPHA:244
HP:0001748	Polysplenia	6103	RPGR	ORPHA:244
HP:0001748	Polysplenia	388389	CCDC103	ORPHA:244
HP:0001748	Polysplenia	93233	ODAD1	ORPHA:244
HP:0001748	Polysplenia	55130	ODAD2	ORPHA:244
HP:0001748	Polysplenia	1767	DNAH5	ORPHA:244
HP:0001748	Polysplenia	83861	RSPH3	ORPHA:244
HP:0001748	Polysplenia	345643	MCIDAS	ORPHA:244
HP:0001748	Polysplenia	56683	CFAP298	ORPHA:244
HP:0001748	Polysplenia	79925	SPEF2	ORPHA:244
HP:0001748	Polysplenia	10309	CCNO	ORPHA:244
HP:0001748	Polysplenia	115399	LRRC56	ORPHA:244
HP:0001748	Polysplenia	139212	DNAAF6	ORPHA:244
HP:0001748	Polysplenia	123872	DNAAF1	ORPHA:244
HP:0001748	Polysplenia	85016	CFAP300	ORPHA:244
HP:0001748	Polysplenia	339829	CCDC39	ORPHA:244
HP:0001748	Polysplenia	339829	CCDC39	OMIM:613807
HP:0001748	Polysplenia	8701	DNAH11	ORPHA:244
HP:0001748	Polysplenia	1770	DNAH9	ORPHA:244
HP:0001748	Polysplenia	246176	GAS2L2	ORPHA:244
HP:0001748	Polysplenia	51715	RAB23	OMIM:201000
HP:0001748	Polysplenia	51715	RAB23	ORPHA:65759
HP:0001748	Polysplenia	27031	NPHP3	OMIM:208540
HP:0001748	Polysplenia	55159	RFWD3	OMIM:617784
HP:0001748	Polysplenia	4613	MYCN	OMIM:164280
HP:0001748	Polysplenia	25790	CFAP45	OMIM:619608
HP:0001748	Polysplenia	1954	MEGF8	ORPHA:65759
HP:0001748	Polysplenia	55997	CFC1	OMIM:605376
HP:0006274	Reduced pancreatic beta cells	3767	KCNJ11	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	6774	STAT3	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	2645	GCK	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	3651	PDX1	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	6833	ABCC8	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	3630	INS	ORPHA:99885
HP:0006274	Reduced pancreatic beta cells	9451	EIF2AK3	OMIM:226980
HP:0004510	Pancreatic islet-cell hyperplasia	3930	LBR	OMIM:215140
HP:0004510	Pancreatic islet-cell hyperplasia	6566	SLC16A1	OMIM:610021
HP:0004510	Pancreatic islet-cell hyperplasia	129563	DIS3L2	OMIM:267000
HP:0004510	Pancreatic islet-cell hyperplasia	3767	KCNJ11	OMIM:601820
HP:0004510	Pancreatic islet-cell hyperplasia	3172	HNF4A	ORPHA:263455
HP:0004510	Pancreatic islet-cell hyperplasia	2719	GPC3	OMIM:312870
HP:0004510	Pancreatic islet-cell hyperplasia	2719	GPC3	ORPHA:373
HP:0004510	Pancreatic islet-cell hyperplasia	2239	GPC4	OMIM:312870
HP:0004510	Pancreatic islet-cell hyperplasia	2239	GPC4	ORPHA:373
HP:0004510	Pancreatic islet-cell hyperplasia	2184	FAH	OMIM:276700
HP:0004510	Pancreatic islet-cell hyperplasia	6833	ABCC8	OMIM:256450
HP:0004510	Pancreatic islet-cell hyperplasia	3643	INSR	OMIM:246200
HP:0004510	Pancreatic islet-cell hyperplasia	7351	UCP2	ORPHA:276556
HP:0004510	Pancreatic islet-cell hyperplasia	2642	GCGR	OMIM:619290
HP:0006276	Hyperechogenic pancreas	79631	EFL1	OMIM:617941
HP:0006276	Hyperechogenic pancreas	171023	ASXL1	OMIM:605039
HP:0006276	Hyperechogenic pancreas	51651	PTRH2	ORPHA:456312
HP:0006276	Hyperechogenic pancreas	134218	DNAJC21	OMIM:617052
HP:0006276	Hyperechogenic pancreas	27031	NPHP3	OMIM:208540
HP:0006277	Pancreatic hyperplasia	1028	CDKN1C	OMIM:130650
HP:0006277	Pancreatic hyperplasia	10984	KCNQ1OT1	OMIM:130650
HP:0006277	Pancreatic hyperplasia	3481	IGF2	OMIM:130650
HP:0006277	Pancreatic hyperplasia	3784	KCNQ1	OMIM:130650
HP:0006279	Beta-cell dysfunction	5078	PAX4	OMIM:612227
HP:0032121	Froment sign	5376	PMP22	OMIM:162500
HP:0032121	Froment sign	4884	NPTX1	OMIM:620158
HP:0032122	Very low visual acuity	6935	ZEB1	ORPHA:98973
HP:0032122	Very low visual acuity	30813	VSX1	ORPHA:98973
HP:0032122	Very low visual acuity	58495	OVOL2	ORPHA:98973
HP:0032122	Very low visual acuity	79977	GRHL2	ORPHA:98973
HP:0032122	Very low visual acuity	1296	COL8A2	ORPHA:98973
HP:0032123	Ultra-low vision	392255	GDF6	OMIM:615360
HP:0032123	Ultra-low vision	64802	NMNAT1	OMIM:608553
HP:0032123	Ultra-low vision	3166	HMX1	OMIM:612109
HP:0032123	Ultra-low vision	220202	ATOH7	OMIM:221900
HP:0006280	Chronic pancreatitis	57104	PNPLA2	ORPHA:98908
HP:0006280	Chronic pancreatitis	63929	XPNPEP3	OMIM:613159
HP:0006280	Chronic pancreatitis	2710	GK	OMIM:307030
HP:0006280	Chronic pancreatitis	6690	SPINK1	OMIM:608189
HP:0006280	Chronic pancreatitis	2542	SLC37A4	OMIM:232240
HP:0000685	Hypoplasia of teeth	10269	ZMPSTE24	OMIM:608612
HP:0000685	Hypoplasia of teeth	10484	SEC23A	ORPHA:50814
HP:0000685	Hypoplasia of teeth	10484	SEC23A	OMIM:607812
HP:0000685	Hypoplasia of teeth	2316	FLNA	ORPHA:88630
HP:0000685	Hypoplasia of teeth	5167	ENPP1	OMIM:613312
HP:0000685	Hypoplasia of teeth	4750	NEK1	ORPHA:2751
HP:0000685	Hypoplasia of teeth	10913	EDAR	ORPHA:248
HP:0000685	Hypoplasia of teeth	1476	CSTB	ORPHA:248
HP:0000685	Hypoplasia of teeth	9401	RECQL4	OMIM:268400
HP:0000685	Hypoplasia of teeth	6558	SLC12A2	OMIM:619080
HP:0000685	Hypoplasia of teeth	23347	SMCHD1	OMIM:603457
HP:0000685	Hypoplasia of teeth	374654	KIF7	OMIM:200990
HP:0000685	Hypoplasia of teeth	112752	IFT43	OMIM:614099
HP:0000685	Hypoplasia of teeth	4000	LMNA	OMIM:248370
HP:0000685	Hypoplasia of teeth	93587	TRMT10A	ORPHA:391408
HP:0000685	Hypoplasia of teeth	84919	PPP1R15B	ORPHA:391408
HP:0000685	Hypoplasia of teeth	113246	C12orf57	OMIM:218340
HP:0000685	Hypoplasia of teeth	265	AMELX	OMIM:301200
HP:0000685	Hypoplasia of teeth	9361	LONP1	OMIM:600373
HP:0000685	Hypoplasia of teeth	5339	PLEC	OMIM:226730
HP:0000685	Hypoplasia of teeth	5339	PLEC	OMIM:226670
HP:0000685	Hypoplasia of teeth	3691	ITGB4	OMIM:226730
HP:0000685	Hypoplasia of teeth	3691	ITGB4	ORPHA:79403
HP:0000685	Hypoplasia of teeth	3691	ITGB4	ORPHA:79402
HP:0000685	Hypoplasia of teeth	3691	ITGB4	ORPHA:251393
HP:0000685	Hypoplasia of teeth	1161	ERCC8	ORPHA:90324
HP:0000685	Hypoplasia of teeth	1161	ERCC8	ORPHA:90321
HP:0000685	Hypoplasia of teeth	1161	ERCC8	ORPHA:90322
HP:0000685	Hypoplasia of teeth	1161	ERCC8	OMIM:216400
HP:0000685	Hypoplasia of teeth	2074	ERCC6	ORPHA:90324
HP:0000685	Hypoplasia of teeth	2074	ERCC6	ORPHA:90321
HP:0000685	Hypoplasia of teeth	2074	ERCC6	ORPHA:90322
HP:0000685	Hypoplasia of teeth	81607	NECTIN4	OMIM:613573
HP:0000685	Hypoplasia of teeth	4010	LMX1B	ORPHA:2614
HP:0000685	Hypoplasia of teeth	2263	FGFR2	OMIM:149730
HP:0000685	Hypoplasia of teeth	2263	FGFR2	ORPHA:2363
HP:0000685	Hypoplasia of teeth	55746	NUP133	OMIM:618349
HP:0000685	Hypoplasia of teeth	2778	GNAS	ORPHA:94089
HP:0000685	Hypoplasia of teeth	2778	GNAS	OMIM:612463
HP:0000685	Hypoplasia of teeth	2778	GNAS	OMIM:612462
HP:0000685	Hypoplasia of teeth	2778	GNAS	ORPHA:79443
HP:0000685	Hypoplasia of teeth	2778	GNAS	ORPHA:79444
HP:0000685	Hypoplasia of teeth	2778	GNAS	OMIM:103580
HP:0000685	Hypoplasia of teeth	8675	STX16	ORPHA:94089
HP:0000685	Hypoplasia of teeth	2072	ERCC4	ORPHA:90321
HP:0000685	Hypoplasia of teeth	2072	ERCC4	OMIM:610965
HP:0000685	Hypoplasia of teeth	2067	ERCC1	ORPHA:90322
HP:0000685	Hypoplasia of teeth	64094	SMOC2	OMIM:125400
HP:0000685	Hypoplasia of teeth	3655	ITGA6	ORPHA:79403
HP:0000685	Hypoplasia of teeth	3909	LAMA3	ORPHA:79404
HP:0000685	Hypoplasia of teeth	3909	LAMA3	OMIM:245660
HP:0000685	Hypoplasia of teeth	3909	LAMA3	ORPHA:79402
HP:0000685	Hypoplasia of teeth	3909	LAMA3	OMIM:226700
HP:0000685	Hypoplasia of teeth	3918	LAMC2	ORPHA:79404
HP:0000685	Hypoplasia of teeth	3918	LAMC2	ORPHA:79402
HP:0000685	Hypoplasia of teeth	3918	LAMC2	OMIM:226700
HP:0000685	Hypoplasia of teeth	3914	LAMB3	ORPHA:79404
HP:0000685	Hypoplasia of teeth	3914	LAMB3	OMIM:104530
HP:0000685	Hypoplasia of teeth	3914	LAMB3	ORPHA:79402
HP:0000685	Hypoplasia of teeth	3914	LAMB3	OMIM:226650
HP:0000685	Hypoplasia of teeth	3914	LAMB3	OMIM:226700
HP:0000685	Hypoplasia of teeth	1308	COL17A1	ORPHA:79406
HP:0000685	Hypoplasia of teeth	1308	COL17A1	ORPHA:79402
HP:0000685	Hypoplasia of teeth	1308	COL17A1	ORPHA:251393
HP:0000685	Hypoplasia of teeth	4312	MMP1	ORPHA:79408
HP:0000685	Hypoplasia of teeth	4312	MMP1	OMIM:226600
HP:0000685	Hypoplasia of teeth	1294	COL7A1	ORPHA:79408
HP:0000685	Hypoplasia of teeth	1294	COL7A1	ORPHA:79409
HP:0000685	Hypoplasia of teeth	1294	COL7A1	OMIM:226600
HP:0000685	Hypoplasia of teeth	1294	COL7A1	ORPHA:79410
HP:0000685	Hypoplasia of teeth	1294	COL7A1	ORPHA:79411
HP:0000685	Hypoplasia of teeth	57511	COG6	ORPHA:363523
HP:0000685	Hypoplasia of teeth	57511	COG6	OMIM:614576
HP:0000685	Hypoplasia of teeth	57511	COG6	OMIM:615328
HP:0000685	Hypoplasia of teeth	80055	PGAP1	OMIM:615802
HP:0000685	Hypoplasia of teeth	152816	ODAPH	OMIM:614832
HP:0000685	Hypoplasia of teeth	56975	FAM20C	OMIM:259775
HP:0000685	Hypoplasia of teeth	6595	SMARCA2	OMIM:619293
HP:0000685	Hypoplasia of teeth	79641	ROGDI	OMIM:226750
HP:0000685	Hypoplasia of teeth	3694	ITGB6	OMIM:616221
HP:0000685	Hypoplasia of teeth	84068	SLC10A7	OMIM:618363
HP:0000685	Hypoplasia of teeth	10265	IRX5	OMIM:611174
HP:0000685	Hypoplasia of teeth	545	ATR	OMIM:614564
HP:0000685	Hypoplasia of teeth	545	ATR	OMIM:210600
HP:0000685	Hypoplasia of teeth	3117	HLA-DQA1	OMIM:212750
HP:0000685	Hypoplasia of teeth	3119	HLA-DQB1	OMIM:212750
HP:0000685	Hypoplasia of teeth	5189	PEX1	OMIM:234580
HP:0000685	Hypoplasia of teeth	3759	KCNJ2	OMIM:170390
HP:0000685	Hypoplasia of teeth	55764	IFT122	OMIM:218330
HP:0000685	Hypoplasia of teeth	222663	SCUBE3	OMIM:619184
HP:0000685	Hypoplasia of teeth	860	RUNX2	OMIM:119600
HP:0000685	Hypoplasia of teeth	1594	CYP27B1	OMIM:264700
HP:0000685	Hypoplasia of teeth	1594	CYP27B1	ORPHA:289157
HP:0000685	Hypoplasia of teeth	7421	VDR	OMIM:277440
HP:0000685	Hypoplasia of teeth	4591	TRIM37	OMIM:253250
HP:0000685	Hypoplasia of teeth	2783	GNB2	OMIM:619503
HP:0000685	Hypoplasia of teeth	6304	SATB1	OMIM:619229
HP:0000685	Hypoplasia of teeth	5116	PCNT	OMIM:210720
HP:0000685	Hypoplasia of teeth	2697	GJA1	OMIM:164200
HP:0000685	Hypoplasia of teeth	1747	DLX3	OMIM:104510
HP:0000685	Hypoplasia of teeth	64840	PORCN	OMIM:305600
HP:0000685	Hypoplasia of teeth	9791	PTDSS1	OMIM:151050
HP:0000685	Hypoplasia of teeth	93650	ACP4	OMIM:617297
HP:0000685	Hypoplasia of teeth	57217	TTC7A	OMIM:243150
HP:0000685	Hypoplasia of teeth	134218	DNAJC21	OMIM:617052
HP:0000685	Hypoplasia of teeth	120227	CYP2R1	ORPHA:289157
HP:0000685	Hypoplasia of teeth	1387	CREBBP	OMIM:180849
HP:0000685	Hypoplasia of teeth	2033	EP300	OMIM:180849
HP:0000685	Hypoplasia of teeth	80320	SP6	OMIM:620104
HP:0000685	Hypoplasia of teeth	8626	TP63	OMIM:129400
HP:0000685	Hypoplasia of teeth	4952	OCRL	OMIM:309000
HP:0000685	Hypoplasia of teeth	2255	FGF10	OMIM:620193
HP:0000685	Hypoplasia of teeth	2255	FGF10	ORPHA:2363
HP:0000685	Hypoplasia of teeth	83479	DDX59	ORPHA:2919
HP:0000685	Hypoplasia of teeth	8481	OFD1	OMIM:311200
HP:0000685	Hypoplasia of teeth	2261	FGFR3	ORPHA:2363
HP:0000685	Hypoplasia of teeth	22995	CEP152	OMIM:613823
HP:0000685	Hypoplasia of teeth	9076	CLDN1	OMIM:607626
HP:0000685	Hypoplasia of teeth	7355	SLC35A2	OMIM:300896
HP:0000685	Hypoplasia of teeth	326	AIRE	OMIM:240300
HP:0000685	Hypoplasia of teeth	4763	NF1	ORPHA:139474
HP:0000685	Hypoplasia of teeth	79977	GRHL2	OMIM:616029
HP:0000685	Hypoplasia of teeth	387	RHOA	OMIM:618727
HP:0000685	Hypoplasia of teeth	2591	GALNT3	OMIM:211900
HP:0000685	Hypoplasia of teeth	23219	FBXO28	OMIM:619777
HP:0000685	Hypoplasia of teeth	1107	CHD3	OMIM:618205
HP:0000685	Hypoplasia of teeth	404672	GTF2H5	ORPHA:33364
HP:0000685	Hypoplasia of teeth	833	CARS1	ORPHA:33364
HP:0000685	Hypoplasia of teeth	2068	ERCC2	ORPHA:33364
HP:0000685	Hypoplasia of teeth	7737	RNF113A	ORPHA:33364
HP:0000685	Hypoplasia of teeth	136647	MPLKIP	ORPHA:33364
HP:0000685	Hypoplasia of teeth	6897	TARS1	ORPHA:33364
HP:0000685	Hypoplasia of teeth	2071	ERCC3	ORPHA:33364
HP:0000685	Hypoplasia of teeth	2961	GTF2E2	ORPHA:33364
HP:0000685	Hypoplasia of teeth	2317	FLNB	OMIM:272460
HP:0000685	Hypoplasia of teeth	1487	CTBP1	OMIM:617915
HP:0000685	Hypoplasia of teeth	2260	FGFR1	ORPHA:99798
HP:0000685	Hypoplasia of teeth	4487	MSX1	ORPHA:99798
HP:0000685	Hypoplasia of teeth	128178	EDARADD	ORPHA:99798
HP:0000685	Hypoplasia of teeth	5083	PAX9	ORPHA:99798
HP:0000685	Hypoplasia of teeth	7341	SUMO1	ORPHA:99798
HP:0000685	Hypoplasia of teeth	80326	WNT10A	ORPHA:99798
HP:0000685	Hypoplasia of teeth	1896	EDA	ORPHA:99798
HP:0000685	Hypoplasia of teeth	8313	AXIN2	ORPHA:99798
HP:0000685	Hypoplasia of teeth	3664	IRF6	ORPHA:99798
HP:0000685	Hypoplasia of teeth	4040	LRP6	ORPHA:99798
HP:0000685	Hypoplasia of teeth	7039	TGFA	ORPHA:99798
HP:0000685	Hypoplasia of teeth	7480	WNT10B	ORPHA:99798
HP:0000685	Hypoplasia of teeth	5286	PIK3C2A	ORPHA:557003
HP:0000685	Hypoplasia of teeth	224	ALDH3A2	OMIM:270200
HP:0000685	Hypoplasia of teeth	1513	CTSK	ORPHA:763
HP:0000685	Hypoplasia of teeth	258	AMBN	OMIM:616270
HP:0000685	Hypoplasia of teeth	3861	KRT14	ORPHA:69087
HP:0000685	Hypoplasia of teeth	3861	KRT14	ORPHA:79396
HP:0000685	Hypoplasia of teeth	5062	PAK2	OMIM:618458
HP:0000685	Hypoplasia of teeth	3852	KRT5	ORPHA:79396
HP:0000685	Hypoplasia of teeth	4038	LRP4	OMIM:212780
HP:0000685	Hypoplasia of teeth	7703	PCGF2	OMIM:618371
HP:0000685	Hypoplasia of teeth	197131	UBR1	OMIM:243800
HP:0000685	Hypoplasia of teeth	64135	IFIH1	OMIM:182250
HP:0006283	Multiple unerupted teeth	2260	FGFR1	ORPHA:2645
HP:0006283	Multiple unerupted teeth	5745	PTH1R	OMIM:600002
HP:0006283	Multiple unerupted teeth	324	APC	ORPHA:79665
HP:0000705	Amelogenesis imperfecta	265	AMELX	OMIM:301200
HP:0000705	Amelogenesis imperfecta	93650	ACP4	OMIM:617297
HP:0000705	Amelogenesis imperfecta	134218	DNAJC21	OMIM:617052
HP:0000705	Amelogenesis imperfecta	79641	ROGDI	OMIM:226750
HP:0000705	Amelogenesis imperfecta	79641	ROGDI	ORPHA:1946
HP:0000705	Amelogenesis imperfecta	3694	ITGB6	OMIM:616221
HP:0000705	Amelogenesis imperfecta	54757	FAM20A	OMIM:204690
HP:0000705	Amelogenesis imperfecta	54757	FAM20A	ORPHA:1031
HP:0000705	Amelogenesis imperfecta	84068	SLC10A7	OMIM:618363
HP:0000705	Amelogenesis imperfecta	6603	SMARCD2	OMIM:617475
HP:0000705	Amelogenesis imperfecta	84957	RELT	OMIM:618386
HP:0000705	Amelogenesis imperfecta	256764	WDR72	OMIM:613211
HP:0000705	Amelogenesis imperfecta	84876	ORAI1	OMIM:612782
HP:0000705	Amelogenesis imperfecta	8111	GPR68	OMIM:617217
HP:0000705	Amelogenesis imperfecta	10117	ENAM	OMIM:204650
HP:0000705	Amelogenesis imperfecta	10117	ENAM	OMIM:104500
HP:0000705	Amelogenesis imperfecta	6786	STIM1	OMIM:612783
HP:0000705	Amelogenesis imperfecta	286077	FAM83H	OMIM:130900
HP:0000705	Amelogenesis imperfecta	80320	SP6	OMIM:620104
HP:0000705	Amelogenesis imperfecta	55858	TMEM165	OMIM:614727
HP:0000705	Amelogenesis imperfecta	284111	SLC13A5	ORPHA:1946
HP:0000705	Amelogenesis imperfecta	284111	SLC13A5	OMIM:615905
HP:0000705	Amelogenesis imperfecta	5189	PEX1	OMIM:234580
HP:0000705	Amelogenesis imperfecta	9313	MMP20	OMIM:612529
HP:0000705	Amelogenesis imperfecta	258	AMBN	OMIM:616270
HP:0000705	Amelogenesis imperfecta	4054	LTBP3	OMIM:601216
HP:0000705	Amelogenesis imperfecta	3909	LAMA3	OMIM:245660
HP:0000705	Amelogenesis imperfecta	26504	CNNM4	ORPHA:1873
HP:0000705	Amelogenesis imperfecta	149461	CLDN19	OMIM:248190
HP:0000705	Amelogenesis imperfecta	123041	SLC24A4	OMIM:615887
HP:0000705	Amelogenesis imperfecta	6304	SATB1	OMIM:619229
HP:0000705	Amelogenesis imperfecta	152816	ODAPH	OMIM:614832
HP:0000705	Amelogenesis imperfecta	9622	KLK4	OMIM:204700
HP:0000705	Amelogenesis imperfecta	3914	LAMB3	OMIM:104530
HP:0000705	Amelogenesis imperfecta	1747	DLX3	OMIM:104510
HP:0000705	Amelogenesis imperfecta	401138	AMTN	OMIM:617607
HP:0000705	Amelogenesis imperfecta	5190	PEX6	OMIM:616617
HP:0006285	Enamel hypomineralization	8111	GPR68	OMIM:617217
HP:0006285	Enamel hypomineralization	10117	ENAM	OMIM:204650
HP:0006285	Enamel hypomineralization	5251	PHEX	OMIM:307800
HP:0006285	Enamel hypomineralization	152816	ODAPH	OMIM:614832
HP:0006285	Enamel hypomineralization	9622	KLK4	OMIM:204700
HP:0006285	Enamel hypomineralization	1747	DLX3	ORPHA:3352
HP:0006285	Enamel hypomineralization	401138	AMTN	OMIM:617607
HP:0006285	Enamel hypomineralization	84957	RELT	OMIM:618386
HP:0006285	Enamel hypomineralization	256764	WDR72	OMIM:613211
HP:0006286	Yellow-brown discoloration of the teeth	3861	KRT14	ORPHA:69087
HP:0006286	Yellow-brown discoloration of the teeth	1834	DSPP	OMIM:125490
HP:0006286	Yellow-brown discoloration of the teeth	3694	ITGB6	OMIM:616221
HP:0006286	Yellow-brown discoloration of the teeth	84957	RELT	OMIM:618386
HP:0006286	Yellow-brown discoloration of the teeth	10117	ENAM	OMIM:204650
HP:0006286	Yellow-brown discoloration of the teeth	123041	SLC24A4	OMIM:615887
HP:0006286	Yellow-brown discoloration of the teeth	6304	SATB1	OMIM:619229
HP:0006286	Yellow-brown discoloration of the teeth	26504	CNNM4	OMIM:217080
HP:0006286	Yellow-brown discoloration of the teeth	54757	FAM20A	ORPHA:1031
HP:0006286	Yellow-brown discoloration of the teeth	9622	KLK4	OMIM:204700
HP:0006286	Yellow-brown discoloration of the teeth	284111	SLC13A5	ORPHA:1946
HP:0006286	Yellow-brown discoloration of the teeth	79641	ROGDI	ORPHA:1946
HP:0006286	Yellow-brown discoloration of the teeth	1747	DLX3	OMIM:104510
HP:0006286	Yellow-brown discoloration of the teeth	9313	MMP20	OMIM:612529
HP:0006349	Agenesis of permanent teeth	9401	RECQL4	OMIM:268400
HP:0006349	Agenesis of permanent teeth	284252	KCTD1	OMIM:181270
HP:0006349	Agenesis of permanent teeth	57539	WDR35	OMIM:614091
HP:0006349	Agenesis of permanent teeth	4487	MSX1	OMIM:189500
HP:0006349	Agenesis of permanent teeth	4487	MSX1	ORPHA:2228
HP:0006349	Agenesis of permanent teeth	197131	UBR1	OMIM:243800
HP:0006349	Agenesis of permanent teeth	716	C1S	ORPHA:75392
HP:0006349	Agenesis of permanent teeth	715	C1R	ORPHA:75392
HP:0006349	Agenesis of permanent teeth	1387	CREBBP	OMIM:618332
HP:0006349	Agenesis of permanent teeth	2033	EP300	OMIM:618333
HP:0006349	Agenesis of permanent teeth	51715	RAB23	OMIM:201000
HP:0006349	Agenesis of permanent teeth	1857	DVL3	OMIM:616894
HP:0006349	Agenesis of permanent teeth	5888	RAD51	OMIM:617244
HP:0006349	Agenesis of permanent teeth	80326	WNT10A	OMIM:150400
HP:0006349	Agenesis of permanent teeth	80326	WNT10A	OMIM:257980
HP:0006349	Agenesis of permanent teeth	54101	RIPK4	ORPHA:1401
HP:0006349	Agenesis of permanent teeth	23314	SATB2	ORPHA:251028
HP:0006349	Agenesis of permanent teeth	8481	OFD1	OMIM:311200
HP:0006349	Agenesis of permanent teeth	23184	MESD	OMIM:618644
HP:0006349	Agenesis of permanent teeth	2783	GNB2	OMIM:619503
HP:0006349	Agenesis of permanent teeth	4040	LRP6	OMIM:616724
HP:0006288	Advanced eruption of teeth	2737	GLI3	ORPHA:672
HP:0006288	Advanced eruption of teeth	2737	GLI3	OMIM:146510
HP:0006288	Advanced eruption of teeth	55703	POLR3B	OMIM:614381
HP:0006288	Advanced eruption of teeth	1832	DSP	ORPHA:158687
HP:0006288	Advanced eruption of teeth	1832	DSP	OMIM:609638
HP:0006288	Advanced eruption of teeth	3728	JUP	ORPHA:158687
HP:0006288	Advanced eruption of teeth	126695	KDF1	OMIM:617337
HP:0006288	Advanced eruption of teeth	11128	POLR3A	OMIM:264090
HP:0006288	Advanced eruption of teeth	11128	POLR3A	ORPHA:3455
HP:0006288	Advanced eruption of teeth	8085	KMT2D	OMIM:620186
HP:0006288	Advanced eruption of teeth	2316	FLNA	ORPHA:99811
HP:0006288	Advanced eruption of teeth	3872	KRT17	OMIM:184500
HP:0006288	Advanced eruption of teeth	3872	KRT17	OMIM:167210
HP:0006288	Advanced eruption of teeth	3872	KRT17	ORPHA:2309
HP:0006288	Advanced eruption of teeth	79813	EHMT1	ORPHA:261652
HP:0006288	Advanced eruption of teeth	79813	EHMT1	OMIM:610253
HP:0006288	Advanced eruption of teeth	58508	KMT2C	ORPHA:261652
HP:0006288	Advanced eruption of teeth	1387	CREBBP	ORPHA:353281
HP:0006288	Advanced eruption of teeth	1387	CREBBP	ORPHA:353277
HP:0006288	Advanced eruption of teeth	2263	FGFR2	OMIM:614592
HP:0006288	Advanced eruption of teeth	2263	FGFR2	OMIM:123790
HP:0006288	Advanced eruption of teeth	2263	FGFR2	ORPHA:313855
HP:0006288	Advanced eruption of teeth	22858	CILK1	OMIM:612651
HP:0006288	Advanced eruption of teeth	2033	EP300	ORPHA:353284
HP:0006288	Advanced eruption of teeth	56975	FAM20C	OMIM:259775
HP:0006288	Advanced eruption of teeth	139285	AMER1	OMIM:300373
HP:0006288	Advanced eruption of teeth	2121	EVC	OMIM:225500
HP:0006288	Advanced eruption of teeth	132884	EVC2	OMIM:225500
HP:0006288	Advanced eruption of teeth	153241	CEP120	OMIM:616300
HP:0006288	Advanced eruption of teeth	64919	BCL11B	OMIM:617237
HP:0006288	Advanced eruption of teeth	4000	LMNA	ORPHA:1662
HP:0006288	Advanced eruption of teeth	10269	ZMPSTE24	ORPHA:1662
HP:0006288	Advanced eruption of teeth	10269	ZMPSTE24	OMIM:275210
HP:0006288	Advanced eruption of teeth	1801	DPH1	OMIM:616901
HP:0006288	Advanced eruption of teeth	4750	NEK1	ORPHA:2751
HP:0006288	Advanced eruption of teeth	404672	GTF2H5	OMIM:616395
HP:0006288	Advanced eruption of teeth	5745	PTH1R	ORPHA:50945
HP:0006288	Advanced eruption of teeth	54903	MKS1	OMIM:249000
HP:0006288	Advanced eruption of teeth	7403	KDM6A	OMIM:300867
HP:0006288	Advanced eruption of teeth	4281	MID1	ORPHA:2745
HP:0006288	Advanced eruption of teeth	23384	SPECC1L	OMIM:145420
HP:0006288	Advanced eruption of teeth	27152	INTU	OMIM:617925
HP:0006288	Advanced eruption of teeth	7407	VARS1	OMIM:617802
HP:0006288	Advanced eruption of teeth	26005	C2CD3	OMIM:615948
HP:0006288	Advanced eruption of teeth	3868	KRT16	ORPHA:2309
HP:0006288	Advanced eruption of teeth	3853	KRT6A	ORPHA:2309
HP:0006288	Advanced eruption of teeth	3854	KRT6B	ORPHA:2309
HP:0006288	Advanced eruption of teeth	3643	INSR	OMIM:262190
HP:0006288	Advanced eruption of teeth	3643	INSR	ORPHA:769
HP:0006288	Advanced eruption of teeth	23394	ADNP	ORPHA:404448
HP:0006288	Advanced eruption of teeth	23394	ADNP	OMIM:615873
HP:0006288	Advanced eruption of teeth	6197	RPS6KA3	ORPHA:192
HP:0006288	Advanced eruption of teeth	64324	NSD1	OMIM:117550
HP:0006288	Advanced eruption of teeth	57688	ZSWIM6	OMIM:617865
HP:0006288	Advanced eruption of teeth	4784	NFIX	OMIM:614753
HP:0006288	Advanced eruption of teeth	1717	DHCR7	ORPHA:818
HP:0006289	Agenesis of central incisor	4750	NEK1	ORPHA:2751
HP:0006289	Agenesis of central incisor	2260	FGFR1	ORPHA:99798
HP:0006289	Agenesis of central incisor	4487	MSX1	ORPHA:99798
HP:0006289	Agenesis of central incisor	128178	EDARADD	ORPHA:99798
HP:0006289	Agenesis of central incisor	5083	PAX9	ORPHA:99798
HP:0006289	Agenesis of central incisor	7341	SUMO1	ORPHA:99798
HP:0006289	Agenesis of central incisor	80326	WNT10A	ORPHA:99798
HP:0006289	Agenesis of central incisor	1896	EDA	ORPHA:99798
HP:0006289	Agenesis of central incisor	8313	AXIN2	ORPHA:99798
HP:0006289	Agenesis of central incisor	3664	IRF6	ORPHA:99798
HP:0006289	Agenesis of central incisor	4040	LRP6	ORPHA:99798
HP:0006289	Agenesis of central incisor	7039	TGFA	ORPHA:99798
HP:0006289	Agenesis of central incisor	7480	WNT10B	ORPHA:99798
HP:0006289	Agenesis of central incisor	9775	EIF4A3	OMIM:268305
HP:0032132	Decreased circulating total IgG	6850	SYK	OMIM:619381
HP:0032132	Decreased circulating total IgG	10625	IVNS1ABP	OMIM:618969
HP:0032132	Decreased circulating total IgG	1380	CR2	OMIM:614699
HP:0032132	Decreased circulating total IgG	537	ATP6AP1	OMIM:300972
HP:0032132	Decreased circulating total IgG	5293	PIK3CD	ORPHA:221139
HP:0032132	Decreased circulating total IgG	90417	KNSTRN	ORPHA:221139
HP:0032132	Decreased circulating total IgG	975	CD81	OMIM:613496
HP:0032132	Decreased circulating total IgG	930	CD19	OMIM:613493
HP:0032132	Decreased circulating total IgG	931	MS4A1	OMIM:613495
HP:0032134	Chronic decreased circulating total IgG	975	CD81	OMIM:613496
HP:0032134	Chronic decreased circulating total IgG	930	CD19	OMIM:613493
HP:0032134	Chronic decreased circulating total IgG	537	ATP6AP1	OMIM:300972
HP:0032134	Chronic decreased circulating total IgG	931	MS4A1	OMIM:613495
HP:0032135	Decreased circulating IgG subclass level	919	CD247	OMIM:610163
HP:0032135	Decreased circulating IgG subclass level	100	ADA	OMIM:102700
HP:0032135	Decreased circulating IgG subclass level	1503	CTPS1	OMIM:615897
HP:0032135	Decreased circulating IgG subclass level	57724	EPG5	OMIM:242840
HP:0032135	Decreased circulating IgG subclass level	57724	EPG5	ORPHA:1493
HP:0032135	Decreased circulating IgG subclass level	472	ATM	OMIM:208900
HP:0032135	Decreased circulating IgG subclass level	5293	PIK3CD	OMIM:615513
HP:0032135	Decreased circulating IgG subclass level	64135	IFIH1	OMIM:619773
HP:0032135	Decreased circulating IgG subclass level	30011	SH3KBP1	OMIM:300310
HP:0032135	Decreased circulating IgG subclass level	917	CD3G	OMIM:615607
HP:0032135	Decreased circulating IgG subclass level	7737	RNF113A	OMIM:300953
HP:0032135	Decreased circulating IgG subclass level	1380	CR2	OMIM:614699
HP:0032136	Decreased circulating IgG1 level	7737	RNF113A	OMIM:300953
HP:0032136	Decreased circulating IgG1 level	1380	CR2	OMIM:614699
HP:0032137	Decreased circulating IgG3 level	64135	IFIH1	OMIM:619773
HP:0032138	Decreased circulating IgG4 level	30011	SH3KBP1	OMIM:300310
HP:0032138	Decreased circulating IgG4 level	1380	CR2	OMIM:614699
HP:0032139	Reduced isohemagglutinin level	1380	CR2	OMIM:614699
HP:0032139	Reduced isohemagglutinin level	9138	ARHGEF1	OMIM:618459
HP:0032139	Reduced isohemagglutinin level	930	CD19	OMIM:613493
HP:0032140	Decreased specific antibody response to vaccination	359948	IRF2BP2	OMIM:617765
HP:0032140	Decreased specific antibody response to vaccination	987	LRBA	OMIM:614700
HP:0032140	Decreased specific antibody response to vaccination	5293	PIK3CD	ORPHA:221139
HP:0032140	Decreased specific antibody response to vaccination	90417	KNSTRN	ORPHA:221139
HP:0032140	Decreased specific antibody response to vaccination	146206	CARMIL2	OMIM:618131
HP:0032140	Decreased specific antibody response to vaccination	919	CD247	OMIM:610163
HP:0032140	Decreased specific antibody response to vaccination	10892	MALT1	OMIM:615468
HP:0032140	Decreased specific antibody response to vaccination	975	CD81	OMIM:613496
HP:0032140	Decreased specific antibody response to vaccination	57379	AICDA	OMIM:605258
HP:0032140	Decreased specific antibody response to vaccination	9138	ARHGEF1	OMIM:618459
HP:0032140	Decreased specific antibody response to vaccination	79087	ALG12	ORPHA:79324
HP:0032140	Decreased specific antibody response to vaccination	1503	CTPS1	OMIM:615897
HP:0032140	Decreased specific antibody response to vaccination	970	CD70	OMIM:618261
HP:0032140	Decreased specific antibody response to vaccination	8737	RIPK1	OMIM:618108
HP:0032140	Decreased specific antibody response to vaccination	6929	TCF3	OMIM:619824
HP:0032140	Decreased specific antibody response to vaccination	5966	REL	OMIM:619652
HP:0032140	Decreased specific antibody response to vaccination	567	B2M	OMIM:241600
HP:0032140	Decreased specific antibody response to vaccination	84433	CARD11	OMIM:616452
HP:0032140	Decreased specific antibody response to vaccination	11151	CORO1A	OMIM:615401
HP:0032140	Decreased specific antibody response to vaccination	10525	HYOU1	OMIM:233600
HP:0032140	Decreased specific antibody response to vaccination	841	CASP8	OMIM:607271
HP:0032140	Decreased specific antibody response to vaccination	8517	IKBKG	OMIM:301081
HP:0032140	Decreased specific antibody response to vaccination	54440	SASH3	OMIM:301082
HP:0032140	Decreased specific antibody response to vaccination	23495	TNFRSF13B	OMIM:240500
HP:0032140	Decreased specific antibody response to vaccination	115650	TNFRSF13C	OMIM:240500
HP:0032140	Decreased specific antibody response to vaccination	1380	CR2	OMIM:240500
HP:0032140	Decreased specific antibody response to vaccination	29851	ICOS	OMIM:240500
HP:0032140	Decreased specific antibody response to vaccination	930	CD19	OMIM:240500
HP:0032140	Decreased specific antibody response to vaccination	695	BTK	OMIM:300755
HP:0032140	Decreased specific antibody response to vaccination	5880	RAC2	OMIM:618986
HP:0006292	Abnormality of dental eruption	1513	CTSK	ORPHA:763
HP:0006292	Abnormality of dental eruption	1513	CTSK	OMIM:265800
HP:0006292	Abnormality of dental eruption	221496	LEMD2	OMIM:619322
HP:0006292	Abnormality of dental eruption	54539	NDUFB11	OMIM:300952
HP:0006292	Abnormality of dental eruption	816	CAMK2B	OMIM:617799
HP:0006292	Abnormality of dental eruption	1909	EDNRA	OMIM:616367
HP:0006292	Abnormality of dental eruption	2314	FLII	ORPHA:819
HP:0006292	Abnormality of dental eruption	23096	IQSEC2	ORPHA:819
HP:0006292	Abnormality of dental eruption	10743	RAI1	ORPHA:819
HP:0006292	Abnormality of dental eruption	10522	DEAF1	ORPHA:819
HP:0006292	Abnormality of dental eruption	1161	ERCC8	OMIM:216400
HP:0006292	Abnormality of dental eruption	1161	ERCC8	ORPHA:90321
HP:0006292	Abnormality of dental eruption	1161	ERCC8	ORPHA:90322
HP:0006292	Abnormality of dental eruption	865	CBFB	OMIM:620099
HP:0006292	Abnormality of dental eruption	2072	ERCC4	ORPHA:90321
HP:0006292	Abnormality of dental eruption	2067	ERCC1	ORPHA:90322
HP:0006292	Abnormality of dental eruption	9949	AMMECR1	OMIM:300990
HP:0006292	Abnormality of dental eruption	3479	IGF1	ORPHA:73272
HP:0006292	Abnormality of dental eruption	9361	LONP1	OMIM:600373
HP:0006292	Abnormality of dental eruption	9361	LONP1	ORPHA:1458
HP:0006292	Abnormality of dental eruption	5573	PRKAR1A	ORPHA:950
HP:0006292	Abnormality of dental eruption	5573	PRKAR1A	OMIM:101800
HP:0006292	Abnormality of dental eruption	5144	PDE4D	ORPHA:950
HP:0006292	Abnormality of dental eruption	55703	POLR3B	OMIM:614381
HP:0006292	Abnormality of dental eruption	9759	HDAC4	OMIM:619797
HP:0006292	Abnormality of dental eruption	9871	SEC24D	ORPHA:2050
HP:0006292	Abnormality of dental eruption	5034	P4HB	ORPHA:2050
HP:0006292	Abnormality of dental eruption	8517	IKBKG	OMIM:300636
HP:0006292	Abnormality of dental eruption	8517	IKBKG	ORPHA:464
HP:0006292	Abnormality of dental eruption	8517	IKBKG	OMIM:308300
HP:0006292	Abnormality of dental eruption	9820	CUL7	ORPHA:2616
HP:0006292	Abnormality of dental eruption	23363	OBSL1	ORPHA:2616
HP:0006292	Abnormality of dental eruption	23363	OBSL1	OMIM:612921
HP:0006292	Abnormality of dental eruption	83987	CCDC8	ORPHA:2616
HP:0006292	Abnormality of dental eruption	2778	GNAS	ORPHA:94089
HP:0006292	Abnormality of dental eruption	2778	GNAS	OMIM:612463
HP:0006292	Abnormality of dental eruption	2778	GNAS	OMIM:612462
HP:0006292	Abnormality of dental eruption	2778	GNAS	ORPHA:79443
HP:0006292	Abnormality of dental eruption	2778	GNAS	ORPHA:79444
HP:0006292	Abnormality of dental eruption	2778	GNAS	OMIM:103580
HP:0006292	Abnormality of dental eruption	8675	STX16	ORPHA:94089
HP:0006292	Abnormality of dental eruption	9839	ZEB2	OMIM:235730
HP:0006292	Abnormality of dental eruption	9839	ZEB2	ORPHA:261552
HP:0006292	Abnormality of dental eruption	9839	ZEB2	ORPHA:261537
HP:0006292	Abnormality of dental eruption	411	ARSB	OMIM:253200
HP:0006292	Abnormality of dental eruption	10312	TCIRG1	ORPHA:667
HP:0006292	Abnormality of dental eruption	10312	TCIRG1	ORPHA:1782
HP:0006292	Abnormality of dental eruption	1186	CLCN7	ORPHA:667
HP:0006292	Abnormality of dental eruption	29887	SNX10	ORPHA:667
HP:0006292	Abnormality of dental eruption	8600	TNFSF11	ORPHA:667
HP:0006292	Abnormality of dental eruption	9401	RECQL4	OMIM:268400
HP:0006292	Abnormality of dental eruption	9401	RECQL4	ORPHA:221016
HP:0006292	Abnormality of dental eruption	114803	MYSM1	ORPHA:508542
HP:0006292	Abnormality of dental eruption	63916	ELMO2	ORPHA:3019
HP:0006292	Abnormality of dental eruption	117581	TWIST2	ORPHA:1231
HP:0006292	Abnormality of dental eruption	117581	TWIST2	OMIM:209885
HP:0006292	Abnormality of dental eruption	55636	CHD7	ORPHA:138
HP:0006292	Abnormality of dental eruption	9723	SEMA3E	ORPHA:138
HP:0006292	Abnormality of dental eruption	4952	OCRL	ORPHA:534
HP:0006292	Abnormality of dental eruption	134218	DNAJC21	ORPHA:811
HP:0006292	Abnormality of dental eruption	79631	EFL1	ORPHA:811
HP:0006292	Abnormality of dental eruption	51119	SBDS	ORPHA:811
HP:0006292	Abnormality of dental eruption	6729	SRP54	ORPHA:811
HP:0006292	Abnormality of dental eruption	2316	FLNA	OMIM:305620
HP:0006292	Abnormality of dental eruption	2316	FLNA	ORPHA:2484
HP:0006292	Abnormality of dental eruption	2316	FLNA	OMIM:309350
HP:0006292	Abnormality of dental eruption	2263	FGFR2	ORPHA:87
HP:0006292	Abnormality of dental eruption	2263	FGFR2	OMIM:101200
HP:0006292	Abnormality of dental eruption	57589	RIC1	OMIM:618761
HP:0006292	Abnormality of dental eruption	57492	ARID1B	OMIM:135900
HP:0006292	Abnormality of dental eruption	57492	ARID1B	ORPHA:1465
HP:0006292	Abnormality of dental eruption	9469	CHST3	ORPHA:263463
HP:0006292	Abnormality of dental eruption	9469	CHST3	OMIM:143095
HP:0006292	Abnormality of dental eruption	10484	SEC23A	ORPHA:50814
HP:0006292	Abnormality of dental eruption	10484	SEC23A	OMIM:607812
HP:0006292	Abnormality of dental eruption	3756	KCNH1	OMIM:135500
HP:0006292	Abnormality of dental eruption	3756	KCNH1	ORPHA:420561
HP:0006292	Abnormality of dental eruption	8200	GDF5	ORPHA:63442
HP:0006292	Abnormality of dental eruption	6774	STAT3	ORPHA:2314
HP:0006292	Abnormality of dental eruption	23522	KAT6B	OMIM:606170
HP:0006292	Abnormality of dental eruption	23522	KAT6B	ORPHA:85201
HP:0006292	Abnormality of dental eruption	54880	BCOR	ORPHA:2712
HP:0006292	Abnormality of dental eruption	54880	BCOR	ORPHA:568
HP:0006292	Abnormality of dental eruption	54880	BCOR	OMIM:300166
HP:0006292	Abnormality of dental eruption	6597	SMARCA4	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6598	SMARCB1	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6659	SOX4	ORPHA:1465
HP:0006292	Abnormality of dental eruption	8289	ARID1A	ORPHA:1465
HP:0006292	Abnormality of dental eruption	8289	ARID1A	OMIM:614607
HP:0006292	Abnormality of dental eruption	5977	DPF2	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6601	SMARCC2	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6602	SMARCD1	ORPHA:1465
HP:0006292	Abnormality of dental eruption	196528	ARID2	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6605	SMARCE1	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6664	SOX11	ORPHA:1465
HP:0006292	Abnormality of dental eruption	6664	SOX11	OMIM:615866
HP:0006292	Abnormality of dental eruption	23545	ATP6V0A2	ORPHA:2834
HP:0006292	Abnormality of dental eruption	23545	ATP6V0A2	OMIM:278250
HP:0006292	Abnormality of dental eruption	284252	KCTD1	ORPHA:2036
HP:0006292	Abnormality of dental eruption	1009	CDH11	OMIM:619736
HP:0006292	Abnormality of dental eruption	1009	CDH11	OMIM:211380
HP:0006292	Abnormality of dental eruption	2248	FGF3	ORPHA:2791
HP:0006292	Abnormality of dental eruption	8260	NAA10	ORPHA:568
HP:0006292	Abnormality of dental eruption	197131	UBR1	ORPHA:2315
HP:0006292	Abnormality of dental eruption	6821	SUOX	OMIM:272300
HP:0006292	Abnormality of dental eruption	5566	PRKACA	ORPHA:289
HP:0006292	Abnormality of dental eruption	5567	PRKACB	ORPHA:289
HP:0006292	Abnormality of dental eruption	2735	GLI1	ORPHA:289
HP:0006292	Abnormality of dental eruption	2121	EVC	ORPHA:289
HP:0006292	Abnormality of dental eruption	2121	EVC	OMIM:225500
HP:0006292	Abnormality of dental eruption	51626	DYNC2LI1	ORPHA:289
HP:0006292	Abnormality of dental eruption	132884	EVC2	ORPHA:289
HP:0006292	Abnormality of dental eruption	132884	EVC2	OMIM:225500
HP:0006292	Abnormality of dental eruption	1594	CYP27B1	OMIM:264700
HP:0006292	Abnormality of dental eruption	1594	CYP27B1	ORPHA:289157
HP:0006292	Abnormality of dental eruption	57231	SNX14	OMIM:616354
HP:0006292	Abnormality of dental eruption	7067	THRA	OMIM:614450
HP:0006292	Abnormality of dental eruption	7421	VDR	OMIM:277440
HP:0006292	Abnormality of dental eruption	23461	ABCA5	ORPHA:2026
HP:0006292	Abnormality of dental eruption	860	RUNX2	ORPHA:1452
HP:0006292	Abnormality of dental eruption	2783	GNB2	OMIM:619503
HP:0006292	Abnormality of dental eruption	6304	SATB1	OMIM:619229
HP:0006292	Abnormality of dental eruption	139285	AMER1	ORPHA:2780
HP:0006292	Abnormality of dental eruption	26040	SETBP1	ORPHA:798
HP:0006292	Abnormality of dental eruption	54	ACP5	ORPHA:1855
HP:0006292	Abnormality of dental eruption	2697	GJA1	OMIM:257850
HP:0006292	Abnormality of dental eruption	2074	ERCC6	OMIM:214150
HP:0006292	Abnormality of dental eruption	23476	BRD4	ORPHA:199
HP:0006292	Abnormality of dental eruption	9126	SMC3	ORPHA:199
HP:0006292	Abnormality of dental eruption	8243	SMC1A	ORPHA:199
HP:0006292	Abnormality of dental eruption	25836	NIPBL	ORPHA:199
HP:0006292	Abnormality of dental eruption	25836	NIPBL	OMIM:122470
HP:0006292	Abnormality of dental eruption	55869	HDAC8	ORPHA:199
HP:0006292	Abnormality of dental eruption	5885	RAD21	ORPHA:199
HP:0006292	Abnormality of dental eruption	3981	LIG4	ORPHA:235
HP:0006292	Abnormality of dental eruption	54888	NSUN2	ORPHA:235
HP:0006292	Abnormality of dental eruption	64840	PORCN	OMIM:305600
HP:0006292	Abnormality of dental eruption	9321	TRIP11	ORPHA:166272
HP:0006292	Abnormality of dental eruption	9321	TRIP11	OMIM:184260
HP:0006292	Abnormality of dental eruption	6197	RPS6KA3	ORPHA:192
HP:0006292	Abnormality of dental eruption	6424	SFRP4	OMIM:265900
HP:0006292	Abnormality of dental eruption	3590	IL11RA	OMIM:614188
HP:0006292	Abnormality of dental eruption	120227	CYP2R1	ORPHA:289157
HP:0006292	Abnormality of dental eruption	7204	TRIO	OMIM:618825
HP:0006292	Abnormality of dental eruption	9508	ADAMTS3	ORPHA:2136
HP:0006292	Abnormality of dental eruption	147372	CCBE1	ORPHA:2136
HP:0006292	Abnormality of dental eruption	147372	CCBE1	OMIM:235510
HP:0006292	Abnormality of dental eruption	79633	FAT4	ORPHA:2136
HP:0006292	Abnormality of dental eruption	285590	SH3PXD2B	ORPHA:137834
HP:0006292	Abnormality of dental eruption	11128	POLR3A	OMIM:264090
HP:0006292	Abnormality of dental eruption	11128	POLR3A	ORPHA:447896
HP:0006292	Abnormality of dental eruption	7040	TGFB1	ORPHA:1328
HP:0006292	Abnormality of dental eruption	4000	LMNA	ORPHA:740
HP:0006292	Abnormality of dental eruption	10269	ZMPSTE24	ORPHA:740
HP:0006292	Abnormality of dental eruption	60401	EDA2R	ORPHA:181
HP:0006292	Abnormality of dental eruption	1896	EDA	ORPHA:181
HP:0006292	Abnormality of dental eruption	1896	EDA	ORPHA:99798
HP:0006292	Abnormality of dental eruption	60676	PAPPA2	OMIM:619489
HP:0006292	Abnormality of dental eruption	5159	PDGFRB	OMIM:601812
HP:0006292	Abnormality of dental eruption	5744	PTHLH	OMIM:613382
HP:0006292	Abnormality of dental eruption	1806	DPYD	ORPHA:1675
HP:0006292	Abnormality of dental eruption	6506	SLC1A2	OMIM:617105
HP:0006292	Abnormality of dental eruption	54757	FAM20A	ORPHA:1031
HP:0006292	Abnormality of dental eruption	5295	PIK3R1	OMIM:269880
HP:0006292	Abnormality of dental eruption	3423	IDS	OMIM:309900
HP:0006292	Abnormality of dental eruption	1758	DMP1	ORPHA:289176
HP:0006292	Abnormality of dental eruption	5167	ENPP1	ORPHA:289176
HP:0006292	Abnormality of dental eruption	79977	GRHL2	OMIM:616029
HP:0006292	Abnormality of dental eruption	9487	PIGL	OMIM:280000
HP:0006292	Abnormality of dental eruption	2260	FGFR1	OMIM:166250
HP:0006292	Abnormality of dental eruption	2260	FGFR1	ORPHA:99798
HP:0006292	Abnormality of dental eruption	55315	SLC29A3	ORPHA:1782
HP:0006292	Abnormality of dental eruption	8792	TNFRSF11A	ORPHA:1782
HP:0006292	Abnormality of dental eruption	4487	MSX1	ORPHA:99798
HP:0006292	Abnormality of dental eruption	4487	MSX1	ORPHA:2228
HP:0006292	Abnormality of dental eruption	128178	EDARADD	ORPHA:99798
HP:0006292	Abnormality of dental eruption	5083	PAX9	ORPHA:99798
HP:0006292	Abnormality of dental eruption	7341	SUMO1	ORPHA:99798
HP:0006292	Abnormality of dental eruption	80326	WNT10A	ORPHA:99798
HP:0006292	Abnormality of dental eruption	8313	AXIN2	ORPHA:99798
HP:0006292	Abnormality of dental eruption	3664	IRF6	ORPHA:99798
HP:0006292	Abnormality of dental eruption	4040	LRP6	ORPHA:99798
HP:0006292	Abnormality of dental eruption	7039	TGFA	ORPHA:99798
HP:0006292	Abnormality of dental eruption	7480	WNT10B	ORPHA:99798
HP:0006292	Abnormality of dental eruption	7474	WNT5A	OMIM:180700
HP:0006292	Abnormality of dental eruption	1855	DVL1	OMIM:180700
HP:0006292	Abnormality of dental eruption	4313	MMP2	OMIM:259600
HP:0006292	Abnormality of dental eruption	5727	PTCH1	ORPHA:77301
HP:0006292	Abnormality of dental eruption	91252	SLC39A13	OMIM:612350
HP:0006292	Abnormality of dental eruption	7227	TRPS1	OMIM:190350
HP:0006292	Abnormality of dental eruption	2245	FGD1	ORPHA:915
HP:0006292	Abnormality of dental eruption	84168	ANTXR1	ORPHA:2067
HP:0006292	Abnormality of dental eruption	284111	SLC13A5	OMIM:615905
HP:0006292	Abnormality of dental eruption	5277	PIGA	OMIM:301072
HP:0006292	Abnormality of dental eruption	2690	GHR	ORPHA:633
HP:0006292	Abnormality of dental eruption	121340	SP7	OMIM:613849
HP:0006292	Abnormality of dental eruption	64682	ANAPC1	ORPHA:221008
HP:0006292	Abnormality of dental eruption	2737	GLI3	ORPHA:672
HP:0006292	Abnormality of dental eruption	2737	GLI3	OMIM:146510
HP:0006292	Abnormality of dental eruption	1832	DSP	ORPHA:158687
HP:0006292	Abnormality of dental eruption	1832	DSP	OMIM:609638
HP:0006292	Abnormality of dental eruption	3728	JUP	ORPHA:158687
HP:0006292	Abnormality of dental eruption	126695	KDF1	OMIM:617337
HP:0006292	Abnormality of dental eruption	8085	KMT2D	OMIM:620186
HP:0006292	Abnormality of dental eruption	3872	KRT17	OMIM:184500
HP:0006292	Abnormality of dental eruption	3872	KRT17	OMIM:167210
HP:0006292	Abnormality of dental eruption	3872	KRT17	ORPHA:2309
HP:0006292	Abnormality of dental eruption	79813	EHMT1	ORPHA:261652
HP:0006292	Abnormality of dental eruption	79813	EHMT1	OMIM:610253
HP:0006292	Abnormality of dental eruption	58508	KMT2C	ORPHA:261652
HP:0006292	Abnormality of dental eruption	1387	CREBBP	ORPHA:353281
HP:0006292	Abnormality of dental eruption	1387	CREBBP	ORPHA:353277
HP:0006292	Abnormality of dental eruption	22858	CILK1	OMIM:612651
HP:0006292	Abnormality of dental eruption	2033	EP300	ORPHA:353284
HP:0006292	Abnormality of dental eruption	56975	FAM20C	OMIM:259775
HP:0006292	Abnormality of dental eruption	153241	CEP120	OMIM:616300
HP:0006292	Abnormality of dental eruption	64919	BCL11B	OMIM:617237
HP:0006292	Abnormality of dental eruption	1801	DPH1	OMIM:616901
HP:0006292	Abnormality of dental eruption	4750	NEK1	ORPHA:2751
HP:0006292	Abnormality of dental eruption	404672	GTF2H5	OMIM:616395
HP:0006292	Abnormality of dental eruption	5745	PTH1R	ORPHA:50945
HP:0006292	Abnormality of dental eruption	54903	MKS1	OMIM:249000
HP:0006292	Abnormality of dental eruption	7403	KDM6A	OMIM:300867
HP:0006292	Abnormality of dental eruption	4281	MID1	ORPHA:2745
HP:0006292	Abnormality of dental eruption	23384	SPECC1L	OMIM:145420
HP:0006292	Abnormality of dental eruption	27152	INTU	OMIM:617925
HP:0006292	Abnormality of dental eruption	7407	VARS1	OMIM:617802
HP:0006292	Abnormality of dental eruption	26005	C2CD3	OMIM:615948
HP:0006292	Abnormality of dental eruption	3868	KRT16	ORPHA:2309
HP:0006292	Abnormality of dental eruption	3853	KRT6A	ORPHA:2309
HP:0006292	Abnormality of dental eruption	3854	KRT6B	ORPHA:2309
HP:0006292	Abnormality of dental eruption	4920	ROR2	OMIM:268310
HP:0006292	Abnormality of dental eruption	4920	ROR2	OMIM:113000
HP:0006292	Abnormality of dental eruption	5281	PIGF	OMIM:619356
HP:0006292	Abnormality of dental eruption	375056	MIA3	OMIM:619269
HP:0006292	Abnormality of dental eruption	92949	ADAMTSL1	ORPHA:521445
HP:0006292	Abnormality of dental eruption	4868	NPHS1	ORPHA:839
HP:0006292	Abnormality of dental eruption	4796	TONSL	ORPHA:93357
HP:0006292	Abnormality of dental eruption	526	ATP6V1B2	ORPHA:79500
HP:0006292	Abnormality of dental eruption	57465	TBC1D24	ORPHA:79500
HP:0006292	Abnormality of dental eruption	2542	SLC37A4	ORPHA:79259
HP:0006292	Abnormality of dental eruption	64135	IFIH1	OMIM:182250
HP:0006292	Abnormality of dental eruption	6452	SH3BP2	OMIM:118400
HP:0006292	Abnormality of dental eruption	3239	HOXD13	OMIM:113300
HP:0006292	Abnormality of dental eruption	324	APC	ORPHA:79665
HP:0006292	Abnormality of dental eruption	3643	INSR	OMIM:262190
HP:0006292	Abnormality of dental eruption	3643	INSR	ORPHA:769
HP:0006292	Abnormality of dental eruption	23394	ADNP	ORPHA:404448
HP:0006292	Abnormality of dental eruption	23394	ADNP	OMIM:615873
HP:0006292	Abnormality of dental eruption	64324	NSD1	OMIM:117550
HP:0006292	Abnormality of dental eruption	57688	ZSWIM6	OMIM:617865
HP:0006292	Abnormality of dental eruption	4784	NFIX	OMIM:614753
HP:0006292	Abnormality of dental eruption	1717	DHCR7	ORPHA:818
HP:0006292	Abnormality of dental eruption	5818	NECTIN1	ORPHA:199306
HP:0006292	Abnormality of dental eruption	1739	DLG1	ORPHA:199306
HP:0006292	Abnormality of dental eruption	652	BMP4	ORPHA:199306
HP:0006292	Abnormality of dental eruption	8626	TP63	ORPHA:199306
HP:0006292	Abnormality of dental eruption	999	CDH1	ORPHA:199306
HP:0006292	Abnormality of dental eruption	5156	PDGFRA	ORPHA:199306
HP:0006292	Abnormality of dental eruption	9411	ARHGAP29	ORPHA:199306
HP:0006292	Abnormality of dental eruption	1748	DLX4	ORPHA:199306
HP:0006292	Abnormality of dental eruption	3572	IL6ST	OMIM:619752
HP:0006292	Abnormality of dental eruption	54517	PUS7	OMIM:618342
HP:0006292	Abnormality of dental eruption	387	RHOA	OMIM:618727
HP:0006292	Abnormality of dental eruption	3759	KCNJ2	OMIM:170390
HP:0006292	Abnormality of dental eruption	3759	KCNJ2	ORPHA:37553
HP:0006292	Abnormality of dental eruption	374654	KIF7	OMIM:200990
HP:0006292	Abnormality of dental eruption	51715	RAB23	OMIM:201000
HP:0006292	Abnormality of dental eruption	10847	SRCAP	ORPHA:2044
HP:0006292	Abnormality of dental eruption	51341	ZBTB7A	OMIM:619769
HP:0006292	Abnormality of dental eruption	63901	FAM111A	ORPHA:93325
HP:0006292	Abnormality of dental eruption	760	CA2	ORPHA:2785
HP:0006292	Abnormality of dental eruption	3762	KCNJ5	ORPHA:37553
HP:0006292	Abnormality of dental eruption	23347	SMCHD1	ORPHA:2250
HP:0006292	Abnormality of dental eruption	2317	FLNB	OMIM:272460
HP:0006292	Abnormality of dental eruption	6925	TCF4	ORPHA:2896
HP:0006292	Abnormality of dental eruption	6885	MAP3K7	ORPHA:3238
HP:0006292	Abnormality of dental eruption	7021	TFAP2B	ORPHA:46627
HP:0006292	Abnormality of dental eruption	29072	SETD2	ORPHA:821
HP:0006292	Abnormality of dental eruption	10297	APC2	ORPHA:821
HP:0000684	Delayed eruption of teeth	1513	CTSK	ORPHA:763
HP:0000684	Delayed eruption of teeth	1513	CTSK	OMIM:265800
HP:0000684	Delayed eruption of teeth	221496	LEMD2	OMIM:619322
HP:0000684	Delayed eruption of teeth	54539	NDUFB11	OMIM:300952
HP:0000684	Delayed eruption of teeth	816	CAMK2B	OMIM:617799
HP:0000684	Delayed eruption of teeth	1909	EDNRA	OMIM:616367
HP:0000684	Delayed eruption of teeth	2314	FLII	ORPHA:819
HP:0000684	Delayed eruption of teeth	23096	IQSEC2	ORPHA:819
HP:0000684	Delayed eruption of teeth	10743	RAI1	ORPHA:819
HP:0000684	Delayed eruption of teeth	10522	DEAF1	ORPHA:819
HP:0000684	Delayed eruption of teeth	1161	ERCC8	OMIM:216400
HP:0000684	Delayed eruption of teeth	1161	ERCC8	ORPHA:90321
HP:0000684	Delayed eruption of teeth	1161	ERCC8	ORPHA:90322
HP:0000684	Delayed eruption of teeth	865	CBFB	OMIM:620099
HP:0000684	Delayed eruption of teeth	2072	ERCC4	ORPHA:90321
HP:0000684	Delayed eruption of teeth	2067	ERCC1	ORPHA:90322
HP:0000684	Delayed eruption of teeth	9949	AMMECR1	OMIM:300990
HP:0000684	Delayed eruption of teeth	3479	IGF1	ORPHA:73272
HP:0000684	Delayed eruption of teeth	9361	LONP1	OMIM:600373
HP:0000684	Delayed eruption of teeth	9361	LONP1	ORPHA:1458
HP:0000684	Delayed eruption of teeth	5573	PRKAR1A	ORPHA:950
HP:0000684	Delayed eruption of teeth	5573	PRKAR1A	OMIM:101800
HP:0000684	Delayed eruption of teeth	5144	PDE4D	ORPHA:950
HP:0000684	Delayed eruption of teeth	55703	POLR3B	OMIM:614381
HP:0000684	Delayed eruption of teeth	9759	HDAC4	OMIM:619797
HP:0000684	Delayed eruption of teeth	9871	SEC24D	ORPHA:2050
HP:0000684	Delayed eruption of teeth	5034	P4HB	ORPHA:2050
HP:0000684	Delayed eruption of teeth	8517	IKBKG	OMIM:300636
HP:0000684	Delayed eruption of teeth	8517	IKBKG	ORPHA:464
HP:0000684	Delayed eruption of teeth	8517	IKBKG	OMIM:308300
HP:0000684	Delayed eruption of teeth	9820	CUL7	ORPHA:2616
HP:0000684	Delayed eruption of teeth	23363	OBSL1	ORPHA:2616
HP:0000684	Delayed eruption of teeth	23363	OBSL1	OMIM:612921
HP:0000684	Delayed eruption of teeth	83987	CCDC8	ORPHA:2616
HP:0000684	Delayed eruption of teeth	2778	GNAS	ORPHA:94089
HP:0000684	Delayed eruption of teeth	2778	GNAS	OMIM:612463
HP:0000684	Delayed eruption of teeth	2778	GNAS	OMIM:612462
HP:0000684	Delayed eruption of teeth	2778	GNAS	ORPHA:79443
HP:0000684	Delayed eruption of teeth	2778	GNAS	ORPHA:79444
HP:0000684	Delayed eruption of teeth	2778	GNAS	OMIM:103580
HP:0000684	Delayed eruption of teeth	8675	STX16	ORPHA:94089
HP:0000684	Delayed eruption of teeth	9839	ZEB2	OMIM:235730
HP:0000684	Delayed eruption of teeth	9839	ZEB2	ORPHA:261552
HP:0000684	Delayed eruption of teeth	9839	ZEB2	ORPHA:261537
HP:0000684	Delayed eruption of teeth	411	ARSB	OMIM:253200
HP:0000684	Delayed eruption of teeth	10312	TCIRG1	ORPHA:667
HP:0000684	Delayed eruption of teeth	10312	TCIRG1	ORPHA:1782
HP:0000684	Delayed eruption of teeth	1186	CLCN7	ORPHA:667
HP:0000684	Delayed eruption of teeth	29887	SNX10	ORPHA:667
HP:0000684	Delayed eruption of teeth	8600	TNFSF11	ORPHA:667
HP:0000684	Delayed eruption of teeth	9401	RECQL4	OMIM:268400
HP:0000684	Delayed eruption of teeth	9401	RECQL4	ORPHA:221016
HP:0000684	Delayed eruption of teeth	114803	MYSM1	ORPHA:508542
HP:0000684	Delayed eruption of teeth	63916	ELMO2	ORPHA:3019
HP:0000684	Delayed eruption of teeth	117581	TWIST2	ORPHA:1231
HP:0000684	Delayed eruption of teeth	117581	TWIST2	OMIM:209885
HP:0000684	Delayed eruption of teeth	55636	CHD7	ORPHA:138
HP:0000684	Delayed eruption of teeth	9723	SEMA3E	ORPHA:138
HP:0000684	Delayed eruption of teeth	4952	OCRL	ORPHA:534
HP:0000684	Delayed eruption of teeth	134218	DNAJC21	ORPHA:811
HP:0000684	Delayed eruption of teeth	79631	EFL1	ORPHA:811
HP:0000684	Delayed eruption of teeth	51119	SBDS	ORPHA:811
HP:0000684	Delayed eruption of teeth	6729	SRP54	ORPHA:811
HP:0000684	Delayed eruption of teeth	2316	FLNA	OMIM:305620
HP:0000684	Delayed eruption of teeth	2316	FLNA	ORPHA:2484
HP:0000684	Delayed eruption of teeth	2316	FLNA	OMIM:309350
HP:0000684	Delayed eruption of teeth	2263	FGFR2	ORPHA:87
HP:0000684	Delayed eruption of teeth	2263	FGFR2	OMIM:101200
HP:0000684	Delayed eruption of teeth	57589	RIC1	OMIM:618761
HP:0000684	Delayed eruption of teeth	57492	ARID1B	OMIM:135900
HP:0000684	Delayed eruption of teeth	57492	ARID1B	ORPHA:1465
HP:0000684	Delayed eruption of teeth	9469	CHST3	ORPHA:263463
HP:0000684	Delayed eruption of teeth	9469	CHST3	OMIM:143095
HP:0000684	Delayed eruption of teeth	10484	SEC23A	ORPHA:50814
HP:0000684	Delayed eruption of teeth	10484	SEC23A	OMIM:607812
HP:0000684	Delayed eruption of teeth	3756	KCNH1	OMIM:135500
HP:0000684	Delayed eruption of teeth	3756	KCNH1	ORPHA:420561
HP:0000684	Delayed eruption of teeth	8200	GDF5	ORPHA:63442
HP:0000684	Delayed eruption of teeth	6774	STAT3	ORPHA:2314
HP:0000684	Delayed eruption of teeth	23522	KAT6B	OMIM:606170
HP:0000684	Delayed eruption of teeth	23522	KAT6B	ORPHA:85201
HP:0000684	Delayed eruption of teeth	54880	BCOR	ORPHA:2712
HP:0000684	Delayed eruption of teeth	54880	BCOR	ORPHA:568
HP:0000684	Delayed eruption of teeth	54880	BCOR	OMIM:300166
HP:0000684	Delayed eruption of teeth	6597	SMARCA4	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6598	SMARCB1	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6659	SOX4	ORPHA:1465
HP:0000684	Delayed eruption of teeth	8289	ARID1A	ORPHA:1465
HP:0000684	Delayed eruption of teeth	8289	ARID1A	OMIM:614607
HP:0000684	Delayed eruption of teeth	5977	DPF2	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6601	SMARCC2	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6602	SMARCD1	ORPHA:1465
HP:0000684	Delayed eruption of teeth	196528	ARID2	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6605	SMARCE1	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6664	SOX11	ORPHA:1465
HP:0000684	Delayed eruption of teeth	6664	SOX11	OMIM:615866
HP:0000684	Delayed eruption of teeth	23545	ATP6V0A2	ORPHA:2834
HP:0000684	Delayed eruption of teeth	23545	ATP6V0A2	OMIM:278250
HP:0000684	Delayed eruption of teeth	284252	KCTD1	ORPHA:2036
HP:0000684	Delayed eruption of teeth	1009	CDH11	OMIM:619736
HP:0000684	Delayed eruption of teeth	1009	CDH11	OMIM:211380
HP:0000684	Delayed eruption of teeth	2248	FGF3	ORPHA:2791
HP:0000684	Delayed eruption of teeth	8260	NAA10	ORPHA:568
HP:0000684	Delayed eruption of teeth	197131	UBR1	ORPHA:2315
HP:0000684	Delayed eruption of teeth	6821	SUOX	OMIM:272300
HP:0000684	Delayed eruption of teeth	5566	PRKACA	ORPHA:289
HP:0000684	Delayed eruption of teeth	5567	PRKACB	ORPHA:289
HP:0000684	Delayed eruption of teeth	2735	GLI1	ORPHA:289
HP:0000684	Delayed eruption of teeth	2121	EVC	ORPHA:289
HP:0000684	Delayed eruption of teeth	2121	EVC	OMIM:225500
HP:0000684	Delayed eruption of teeth	51626	DYNC2LI1	ORPHA:289
HP:0000684	Delayed eruption of teeth	132884	EVC2	ORPHA:289
HP:0000684	Delayed eruption of teeth	132884	EVC2	OMIM:225500
HP:0000684	Delayed eruption of teeth	1594	CYP27B1	OMIM:264700
HP:0000684	Delayed eruption of teeth	1594	CYP27B1	ORPHA:289157
HP:0000684	Delayed eruption of teeth	57231	SNX14	OMIM:616354
HP:0000684	Delayed eruption of teeth	7067	THRA	OMIM:614450
HP:0000684	Delayed eruption of teeth	7421	VDR	OMIM:277440
HP:0000684	Delayed eruption of teeth	23461	ABCA5	ORPHA:2026
HP:0000684	Delayed eruption of teeth	860	RUNX2	ORPHA:1452
HP:0000684	Delayed eruption of teeth	2783	GNB2	OMIM:619503
HP:0000684	Delayed eruption of teeth	6304	SATB1	OMIM:619229
HP:0000684	Delayed eruption of teeth	139285	AMER1	ORPHA:2780
HP:0000684	Delayed eruption of teeth	26040	SETBP1	ORPHA:798
HP:0000684	Delayed eruption of teeth	54	ACP5	ORPHA:1855
HP:0000684	Delayed eruption of teeth	2697	GJA1	OMIM:257850
HP:0000684	Delayed eruption of teeth	2074	ERCC6	OMIM:214150
HP:0000684	Delayed eruption of teeth	23476	BRD4	ORPHA:199
HP:0000684	Delayed eruption of teeth	9126	SMC3	ORPHA:199
HP:0000684	Delayed eruption of teeth	8243	SMC1A	ORPHA:199
HP:0000684	Delayed eruption of teeth	25836	NIPBL	ORPHA:199
HP:0000684	Delayed eruption of teeth	25836	NIPBL	OMIM:122470
HP:0000684	Delayed eruption of teeth	55869	HDAC8	ORPHA:199
HP:0000684	Delayed eruption of teeth	5885	RAD21	ORPHA:199
HP:0000684	Delayed eruption of teeth	3981	LIG4	ORPHA:235
HP:0000684	Delayed eruption of teeth	54888	NSUN2	ORPHA:235
HP:0000684	Delayed eruption of teeth	64840	PORCN	OMIM:305600
HP:0000684	Delayed eruption of teeth	9321	TRIP11	ORPHA:166272
HP:0000684	Delayed eruption of teeth	9321	TRIP11	OMIM:184260
HP:0000684	Delayed eruption of teeth	6197	RPS6KA3	ORPHA:192
HP:0000684	Delayed eruption of teeth	6424	SFRP4	OMIM:265900
HP:0000684	Delayed eruption of teeth	3590	IL11RA	OMIM:614188
HP:0000684	Delayed eruption of teeth	120227	CYP2R1	ORPHA:289157
HP:0000684	Delayed eruption of teeth	7204	TRIO	OMIM:618825
HP:0000684	Delayed eruption of teeth	9508	ADAMTS3	ORPHA:2136
HP:0000684	Delayed eruption of teeth	147372	CCBE1	ORPHA:2136
HP:0000684	Delayed eruption of teeth	147372	CCBE1	OMIM:235510
HP:0000684	Delayed eruption of teeth	79633	FAT4	ORPHA:2136
HP:0000684	Delayed eruption of teeth	285590	SH3PXD2B	ORPHA:137834
HP:0000684	Delayed eruption of teeth	11128	POLR3A	OMIM:264090
HP:0000684	Delayed eruption of teeth	11128	POLR3A	ORPHA:447896
HP:0000684	Delayed eruption of teeth	7040	TGFB1	ORPHA:1328
HP:0000684	Delayed eruption of teeth	4000	LMNA	ORPHA:740
HP:0000684	Delayed eruption of teeth	10269	ZMPSTE24	ORPHA:740
HP:0000684	Delayed eruption of teeth	60401	EDA2R	ORPHA:181
HP:0000684	Delayed eruption of teeth	1896	EDA	ORPHA:181
HP:0000684	Delayed eruption of teeth	1896	EDA	ORPHA:99798
HP:0000684	Delayed eruption of teeth	60676	PAPPA2	OMIM:619489
HP:0000684	Delayed eruption of teeth	5159	PDGFRB	OMIM:601812
HP:0000684	Delayed eruption of teeth	5744	PTHLH	OMIM:613382
HP:0000684	Delayed eruption of teeth	1806	DPYD	ORPHA:1675
HP:0000684	Delayed eruption of teeth	6506	SLC1A2	OMIM:617105
HP:0000684	Delayed eruption of teeth	54757	FAM20A	ORPHA:1031
HP:0000684	Delayed eruption of teeth	5295	PIK3R1	OMIM:269880
HP:0000684	Delayed eruption of teeth	3423	IDS	OMIM:309900
HP:0000684	Delayed eruption of teeth	1758	DMP1	ORPHA:289176
HP:0000684	Delayed eruption of teeth	5167	ENPP1	ORPHA:289176
HP:0000684	Delayed eruption of teeth	79977	GRHL2	OMIM:616029
HP:0000684	Delayed eruption of teeth	9487	PIGL	OMIM:280000
HP:0000684	Delayed eruption of teeth	2260	FGFR1	OMIM:166250
HP:0000684	Delayed eruption of teeth	2260	FGFR1	ORPHA:99798
HP:0000684	Delayed eruption of teeth	55315	SLC29A3	ORPHA:1782
HP:0000684	Delayed eruption of teeth	8792	TNFRSF11A	ORPHA:1782
HP:0000684	Delayed eruption of teeth	4487	MSX1	ORPHA:99798
HP:0000684	Delayed eruption of teeth	4487	MSX1	ORPHA:2228
HP:0000684	Delayed eruption of teeth	128178	EDARADD	ORPHA:99798
HP:0000684	Delayed eruption of teeth	5083	PAX9	ORPHA:99798
HP:0000684	Delayed eruption of teeth	7341	SUMO1	ORPHA:99798
HP:0000684	Delayed eruption of teeth	80326	WNT10A	ORPHA:99798
HP:0000684	Delayed eruption of teeth	8313	AXIN2	ORPHA:99798
HP:0000684	Delayed eruption of teeth	3664	IRF6	ORPHA:99798
HP:0000684	Delayed eruption of teeth	4040	LRP6	ORPHA:99798
HP:0000684	Delayed eruption of teeth	7039	TGFA	ORPHA:99798
HP:0000684	Delayed eruption of teeth	7480	WNT10B	ORPHA:99798
HP:0000684	Delayed eruption of teeth	7474	WNT5A	OMIM:180700
HP:0000684	Delayed eruption of teeth	1855	DVL1	OMIM:180700
HP:0000684	Delayed eruption of teeth	4313	MMP2	OMIM:259600
HP:0000684	Delayed eruption of teeth	5727	PTCH1	ORPHA:77301
HP:0000684	Delayed eruption of teeth	91252	SLC39A13	OMIM:612350
HP:0000684	Delayed eruption of teeth	7227	TRPS1	OMIM:190350
HP:0000684	Delayed eruption of teeth	2245	FGD1	ORPHA:915
HP:0000684	Delayed eruption of teeth	84168	ANTXR1	ORPHA:2067
HP:0000684	Delayed eruption of teeth	284111	SLC13A5	OMIM:615905
HP:0000684	Delayed eruption of teeth	5277	PIGA	OMIM:301072
HP:0000684	Delayed eruption of teeth	2690	GHR	ORPHA:633
HP:0000684	Delayed eruption of teeth	121340	SP7	OMIM:613849
HP:0000684	Delayed eruption of teeth	64682	ANAPC1	ORPHA:221008
HP:0000684	Delayed eruption of teeth	4920	ROR2	OMIM:268310
HP:0000684	Delayed eruption of teeth	4920	ROR2	OMIM:113000
HP:0000684	Delayed eruption of teeth	5281	PIGF	OMIM:619356
HP:0000684	Delayed eruption of teeth	375056	MIA3	OMIM:619269
HP:0000684	Delayed eruption of teeth	92949	ADAMTSL1	ORPHA:521445
HP:0000684	Delayed eruption of teeth	4868	NPHS1	ORPHA:839
HP:0000684	Delayed eruption of teeth	3759	KCNJ2	OMIM:170390
HP:0000684	Delayed eruption of teeth	4796	TONSL	ORPHA:93357
HP:0000684	Delayed eruption of teeth	526	ATP6V1B2	ORPHA:79500
HP:0000684	Delayed eruption of teeth	57465	TBC1D24	ORPHA:79500
HP:0000684	Delayed eruption of teeth	2542	SLC37A4	ORPHA:79259
HP:0000684	Delayed eruption of teeth	7021	TFAP2B	ORPHA:46627
HP:0000684	Delayed eruption of teeth	64324	NSD1	ORPHA:821
HP:0000684	Delayed eruption of teeth	29072	SETD2	ORPHA:821
HP:0000684	Delayed eruption of teeth	10297	APC2	ORPHA:821
HP:0000670	Carious teeth	2074	ERCC6	OMIM:133540
HP:0000670	Carious teeth	2074	ERCC6	ORPHA:90324
HP:0000670	Carious teeth	2074	ERCC6	OMIM:214150
HP:0000670	Carious teeth	229	ALDOB	OMIM:229600
HP:0000670	Carious teeth	1161	ERCC8	ORPHA:90324
HP:0000670	Carious teeth	1161	ERCC8	OMIM:216400
HP:0000670	Carious teeth	10312	TCIRG1	OMIM:259700
HP:0000670	Carious teeth	23394	ADNP	OMIM:615873
HP:0000670	Carious teeth	2263	FGFR2	OMIM:149730
HP:0000670	Carious teeth	2263	FGFR2	ORPHA:2363
HP:0000670	Carious teeth	324	APC	OMIM:175100
HP:0000670	Carious teeth	1736	DKC1	OMIM:305000
HP:0000670	Carious teeth	1736	DKC1	ORPHA:1775
HP:0000670	Carious teeth	8626	TP63	OMIM:604292
HP:0000670	Carious teeth	8626	TP63	OMIM:129400
HP:0000670	Carious teeth	8626	TP63	ORPHA:1896
HP:0000670	Carious teeth	7681	MKRN3	OMIM:176270
HP:0000670	Carious teeth	3653	IPW	OMIM:176270
HP:0000670	Carious teeth	54551	MAGEL2	OMIM:176270
HP:0000670	Carious teeth	791114	PWRN1	OMIM:176270
HP:0000670	Carious teeth	100033413	SNORD116-1	OMIM:176270
HP:0000670	Carious teeth	8924	HERC2	OMIM:176270
HP:0000670	Carious teeth	145624	PWAR1	OMIM:176270
HP:0000670	Carious teeth	23742	NPAP1	OMIM:176270
HP:0000670	Carious teeth	338433	SNORD115-1	OMIM:176270
HP:0000670	Carious teeth	2255	FGF10	OMIM:180920
HP:0000670	Carious teeth	2255	FGF10	OMIM:620193
HP:0000670	Carious teeth	2255	FGF10	ORPHA:2363
HP:0000670	Carious teeth	79650	USB1	OMIM:604173
HP:0000670	Carious teeth	79650	USB1	ORPHA:1775
HP:0000670	Carious teeth	411	ARSB	OMIM:253200
HP:0000670	Carious teeth	1308	COL17A1	ORPHA:79406
HP:0000670	Carious teeth	1308	COL17A1	OMIM:619787
HP:0000670	Carious teeth	4312	MMP1	ORPHA:79408
HP:0000670	Carious teeth	1294	COL7A1	ORPHA:79408
HP:0000670	Carious teeth	1294	COL7A1	ORPHA:79409
HP:0000670	Carious teeth	1294	COL7A1	ORPHA:89842
HP:0000670	Carious teeth	1294	COL7A1	ORPHA:79410
HP:0000670	Carious teeth	1294	COL7A1	ORPHA:79411
HP:0000670	Carious teeth	10847	SRCAP	OMIM:136140
HP:0000670	Carious teeth	10847	SRCAP	ORPHA:2044
HP:0000670	Carious teeth	1387	CREBBP	ORPHA:353281
HP:0000670	Carious teeth	1387	CREBBP	ORPHA:353277
HP:0000670	Carious teeth	57511	COG6	ORPHA:363523
HP:0000670	Carious teeth	57511	COG6	OMIM:615328
HP:0000670	Carious teeth	89910	UBE3B	OMIM:244450
HP:0000670	Carious teeth	2033	EP300	ORPHA:353284
HP:0000670	Carious teeth	2033	EP300	OMIM:613684
HP:0000670	Carious teeth	123041	SLC24A4	OMIM:615887
HP:0000670	Carious teeth	6662	SOX9	OMIM:114290
HP:0000670	Carious teeth	10982	MAPRE2	OMIM:616734
HP:0000670	Carious teeth	51360	MBTPS2	ORPHA:659
HP:0000670	Carious teeth	162514	TRPV3	ORPHA:659
HP:0000670	Carious teeth	64065	PERP	ORPHA:659
HP:0000670	Carious teeth	9622	KLK4	OMIM:204700
HP:0000670	Carious teeth	5818	NECTIN1	ORPHA:3253
HP:0000670	Carious teeth	26277	TINF2	OMIM:127550
HP:0000670	Carious teeth	26277	TINF2	ORPHA:1775
HP:0000670	Carious teeth	7012	TERC	OMIM:127550
HP:0000670	Carious teeth	7012	TERC	ORPHA:1775
HP:0000670	Carious teeth	7015	TERT	OMIM:127550
HP:0000670	Carious teeth	7015	TERT	ORPHA:1775
HP:0000670	Carious teeth	4952	OCRL	ORPHA:534
HP:0000670	Carious teeth	134218	DNAJC21	ORPHA:811
HP:0000670	Carious teeth	79631	EFL1	ORPHA:811
HP:0000670	Carious teeth	51119	SBDS	ORPHA:811
HP:0000670	Carious teeth	6729	SRP54	ORPHA:811
HP:0000670	Carious teeth	1500	CTNND1	ORPHA:1997
HP:0000670	Carious teeth	999	CDH1	ORPHA:1997
HP:0000670	Carious teeth	2542	SLC37A4	ORPHA:79259
HP:0000670	Carious teeth	64135	IFIH1	OMIM:182250
HP:0000670	Carious teeth	1513	CTSK	OMIM:265800
HP:0000670	Carious teeth	1513	CTSK	ORPHA:763
HP:0000670	Carious teeth	10484	SEC23A	ORPHA:50814
HP:0000670	Carious teeth	10484	SEC23A	OMIM:607812
HP:0000670	Carious teeth	84068	SLC10A7	OMIM:618363
HP:0000670	Carious teeth	7040	TGFB1	OMIM:131300
HP:0000670	Carious teeth	7040	TGFB1	ORPHA:1328
HP:0000670	Carious teeth	23545	ATP6V0A2	ORPHA:2834
HP:0000670	Carious teeth	23545	ATP6V0A2	OMIM:278250
HP:0000670	Carious teeth	23545	ATP6V0A2	OMIM:219200
HP:0000670	Carious teeth	23545	ATP6V0A2	ORPHA:357074
HP:0000670	Carious teeth	545	ATR	OMIM:614564
HP:0000670	Carious teeth	26504	CNNM4	OMIM:217080
HP:0000670	Carious teeth	2248	FGF3	ORPHA:2791
HP:0000670	Carious teeth	1312	COMT	ORPHA:567
HP:0000670	Carious teeth	221037	JMJD1C	ORPHA:567
HP:0000670	Carious teeth	2812	GP1BB	ORPHA:567
HP:0000670	Carious teeth	6239	RREB1	ORPHA:567
HP:0000670	Carious teeth	6899	TBX1	ORPHA:567
HP:0000670	Carious teeth	7290	HIRA	ORPHA:567
HP:0000670	Carious teeth	9632	SEC24C	ORPHA:567
HP:0000670	Carious teeth	7353	UFD1	ORPHA:567
HP:0000670	Carious teeth	421	ARVCF	ORPHA:567
HP:0000670	Carious teeth	8546	AP3B1	OMIM:608233
HP:0000670	Carious teeth	2697	GJA1	ORPHA:2710
HP:0000670	Carious teeth	2697	GJA1	OMIM:164200
HP:0000670	Carious teeth	1281	COL3A1	ORPHA:286
HP:0000670	Carious teeth	3977	LIFR	OMIM:601559
HP:0000670	Carious teeth	5073	PARN	OMIM:616353
HP:0000670	Carious teeth	5073	PARN	ORPHA:1775
HP:0000670	Carious teeth	25	ABL1	OMIM:617602
HP:0000670	Carious teeth	2720	GLB1	OMIM:253010
HP:0000670	Carious teeth	8036	SHOC2	ORPHA:2701
HP:0000670	Carious teeth	5500	PPP1CB	ORPHA:2701
HP:0000670	Carious teeth	7421	VDR	OMIM:277440
HP:0000670	Carious teeth	1009	CDH11	ORPHA:1299
HP:0000670	Carious teeth	860	RUNX2	ORPHA:1452
HP:0000670	Carious teeth	1954	MEGF8	OMIM:614976
HP:0000670	Carious teeth	6304	SATB1	OMIM:619229
HP:0000670	Carious teeth	6638	SNRPN	ORPHA:177907
HP:0000670	Carious teeth	175	AGA	ORPHA:93
HP:0000670	Carious teeth	9244	CRLF1	OMIM:272430
HP:0000670	Carious teeth	84701	COX4I2	OMIM:612714
HP:0000670	Carious teeth	55131	RBM28	ORPHA:157954
HP:0000670	Carious teeth	55131	RBM28	OMIM:612079
HP:0000670	Carious teeth	7399	USH2A	ORPHA:231178
HP:0000670	Carious teeth	79955	PDZD7	ORPHA:231178
HP:0000670	Carious teeth	4647	MYO7A	ORPHA:231178
HP:0000670	Carious teeth	25861	WHRN	ORPHA:231178
HP:0000670	Carious teeth	84059	ADGRV1	ORPHA:231178
HP:0000670	Carious teeth	93650	ACP4	OMIM:617297
HP:0000670	Carious teeth	6424	SFRP4	OMIM:265900
HP:0000670	Carious teeth	6628	SNRPB	OMIM:117650
HP:0000670	Carious teeth	3914	LAMB3	OMIM:226650
HP:0000670	Carious teeth	3914	LAMB3	OMIM:226700
HP:0000670	Carious teeth	55651	NHP2	OMIM:224230
HP:0000670	Carious teeth	55651	NHP2	ORPHA:1775
HP:0000670	Carious teeth	55505	NOP10	OMIM:224230
HP:0000670	Carious teeth	55505	NOP10	ORPHA:1775
HP:0000670	Carious teeth	2588	GALNS	OMIM:253000
HP:0000670	Carious teeth	249	ALPL	OMIM:146300
HP:0000670	Carious teeth	249	ALPL	OMIM:241510
HP:0000670	Carious teeth	9401	RECQL4	ORPHA:221016
HP:0000670	Carious teeth	6804	STX1A	ORPHA:904
HP:0000670	Carious teeth	7461	CLIP2	ORPHA:904
HP:0000670	Carious teeth	84277	DNAJC30	ORPHA:904
HP:0000670	Carious teeth	8468	FKBP6	ORPHA:904
HP:0000670	Carious teeth	5982	RFC2	ORPHA:904
HP:0000670	Carious teeth	2969	GTF2I	ORPHA:904
HP:0000670	Carious teeth	3984	LIMK1	ORPHA:904
HP:0000670	Carious teeth	9569	GTF2IRD1	ORPHA:904
HP:0000670	Carious teeth	155382	VPS37D	ORPHA:904
HP:0000670	Carious teeth	155368	METTL27	ORPHA:904
HP:0000670	Carious teeth	114049	BUD23	ORPHA:904
HP:0000670	Carious teeth	7458	EIF4H	ORPHA:904
HP:0000670	Carious teeth	84163	GTF2IRD2	ORPHA:904
HP:0000670	Carious teeth	9275	BCL7B	ORPHA:904
HP:0000670	Carious teeth	26608	TBL2	ORPHA:904
HP:0000670	Carious teeth	653361	NCF1	ORPHA:904
HP:0000670	Carious teeth	135886	TMEM270	ORPHA:904
HP:0000670	Carious teeth	51085	MLXIPL	ORPHA:904
HP:0000670	Carious teeth	9031	BAZ1B	ORPHA:904
HP:0000670	Carious teeth	2006	ELN	ORPHA:904
HP:0000670	Carious teeth	79005	SCNM1	OMIM:620107
HP:0000670	Carious teeth	8085	KMT2D	OMIM:620186
HP:0000670	Carious teeth	5184	PEPD	ORPHA:742
HP:0000670	Carious teeth	55719	SLF2	OMIM:620184
HP:0000670	Carious teeth	5728	PTEN	ORPHA:744
HP:0000670	Carious teeth	207	AKT1	ORPHA:744
HP:0000670	Carious teeth	283209	PGM2L1	OMIM:620191
HP:0000670	Carious teeth	51611	DPH5	OMIM:620070
HP:0000670	Carious teeth	2261	FGFR3	OMIM:620192
HP:0000670	Carious teeth	2261	FGFR3	ORPHA:2363
HP:0000670	Carious teeth	79228	THOC6	ORPHA:363444
HP:0000670	Carious teeth	79228	THOC6	OMIM:613680
HP:0000670	Carious teeth	3861	KRT14	OMIM:161000
HP:0000670	Carious teeth	3861	KRT14	ORPHA:69087
HP:0000670	Carious teeth	7750	ZMYM2	OMIM:619522
HP:0000670	Carious teeth	51098	IFT52	OMIM:617102
HP:0000670	Carious teeth	5075	PAX1	OMIM:615560
HP:0000670	Carious teeth	8481	OFD1	OMIM:311200
HP:0000670	Carious teeth	55612	FERMT1	OMIM:173650
HP:0000670	Carious teeth	55612	FERMT1	ORPHA:2908
HP:0000670	Carious teeth	1280	COL2A1	ORPHA:93346
HP:0000670	Carious teeth	5727	PTCH1	ORPHA:377
HP:0000670	Carious teeth	8643	PTCH2	ORPHA:377
HP:0000670	Carious teeth	51684	SUFU	ORPHA:377
HP:0000670	Carious teeth	126792	B3GALT6	ORPHA:536467
HP:0000670	Carious teeth	5317	PKP1	ORPHA:158668
HP:0000670	Carious teeth	6905	TBCE	OMIM:244460
HP:0000670	Carious teeth	6905	TBCE	ORPHA:93324
HP:0000670	Carious teeth	523	ATP6V1A	ORPHA:357074
HP:0000670	Carious teeth	529	ATP6V1E1	ORPHA:357074
HP:0000670	Carious teeth	5339	PLEC	OMIM:226670
HP:0000670	Carious teeth	5167	ENPP1	OMIM:613312
HP:0000670	Carious teeth	404672	GTF2H5	ORPHA:33364
HP:0000670	Carious teeth	404672	GTF2H5	OMIM:616395
HP:0000670	Carious teeth	833	CARS1	ORPHA:33364
HP:0000670	Carious teeth	2068	ERCC2	ORPHA:33364
HP:0000670	Carious teeth	7737	RNF113A	ORPHA:33364
HP:0000670	Carious teeth	136647	MPLKIP	ORPHA:33364
HP:0000670	Carious teeth	6897	TARS1	ORPHA:33364
HP:0000670	Carious teeth	2071	ERCC3	ORPHA:33364
HP:0000670	Carious teeth	2961	GTF2E2	ORPHA:33364
HP:0000670	Carious teeth	166929	SGMS2	OMIM:126550
HP:0000670	Carious teeth	1186	CLCN7	ORPHA:53
HP:0000670	Carious teeth	3909	LAMA3	OMIM:226700
HP:0000670	Carious teeth	3918	LAMC2	OMIM:226700
HP:0000670	Carious teeth	80169	CTC1	ORPHA:1775
HP:0000670	Carious teeth	55135	WRAP53	ORPHA:1775
HP:0000670	Carious teeth	51750	RTEL1	ORPHA:1775
HP:0000670	Carious teeth	4869	NPM1	ORPHA:1775
HP:0000670	Carious teeth	7298	TYMS	ORPHA:1775
HP:0000670	Carious teeth	7227	TRPS1	OMIM:190350
HP:0000670	Carious teeth	1235	CCR6	ORPHA:220393
HP:0000670	Carious teeth	1490	CCN2	ORPHA:220393
HP:0000670	Carious teeth	3663	IRF5	ORPHA:220393
HP:0000670	Carious teeth	857	CAV1	ORPHA:220393
HP:0000670	Carious teeth	3123	HLA-DRB1	ORPHA:220393
HP:0000670	Carious teeth	63901	FAM111A	ORPHA:93325
HP:0000670	Carious teeth	8600	TNFSF11	OMIM:259710
HP:0000670	Carious teeth	4322	MMP13	ORPHA:2501
HP:0000670	Carious teeth	1001	CDH3	ORPHA:1897
HP:0000670	Carious teeth	64682	ANAPC1	ORPHA:221008
HP:0000164	Abnormality of the dentition	7528	YY1	ORPHA:506358
HP:0000164	Abnormality of the dentition	7528	YY1	OMIM:617557
HP:0000164	Abnormality of the dentition	4621	MYH3	ORPHA:2053
HP:0000164	Abnormality of the dentition	259232	NALCN	ORPHA:2053
HP:0000164	Abnormality of the dentition	23135	KDM6B	OMIM:618505
HP:0000164	Abnormality of the dentition	1947	EFNB1	ORPHA:1520
HP:0000164	Abnormality of the dentition	1947	EFNB1	OMIM:304110
HP:0000164	Abnormality of the dentition	673	BRAF	OMIM:115150
HP:0000164	Abnormality of the dentition	3891	KRT85	OMIM:602032
HP:0000164	Abnormality of the dentition	121391	KRT74	OMIM:613981
HP:0000164	Abnormality of the dentition	121391	KRT74	ORPHA:90368
HP:0000164	Abnormality of the dentition	121391	KRT74	OMIM:614929
HP:0000164	Abnormality of the dentition	7015	TERT	OMIM:613989
HP:0000164	Abnormality of the dentition	7015	TERT	ORPHA:1775
HP:0000164	Abnormality of the dentition	7298	TYMS	OMIM:620040
HP:0000164	Abnormality of the dentition	7298	TYMS	ORPHA:1775
HP:0000164	Abnormality of the dentition	54345	SOX18	OMIM:607823
HP:0000164	Abnormality of the dentition	191	AHCY	OMIM:613752
HP:0000164	Abnormality of the dentition	191	AHCY	ORPHA:88618
HP:0000164	Abnormality of the dentition	83550	GPR101	ORPHA:963
HP:0000164	Abnormality of the dentition	9049	AIP	ORPHA:963
HP:0000164	Abnormality of the dentition	7020	TFAP2A	OMIM:113620
HP:0000164	Abnormality of the dentition	2735	GLI1	ORPHA:289
HP:0000164	Abnormality of the dentition	1280	COL2A1	ORPHA:2380
HP:0000164	Abnormality of the dentition	1280	COL2A1	ORPHA:93315
HP:0000164	Abnormality of the dentition	81848	SPRY4	OMIM:615266
HP:0000164	Abnormality of the dentition	81848	SPRY4	ORPHA:432
HP:0000164	Abnormality of the dentition	1848	DUSP6	OMIM:615269
HP:0000164	Abnormality of the dentition	1848	DUSP6	ORPHA:432
HP:0000164	Abnormality of the dentition	54756	IL17RD	OMIM:615267
HP:0000164	Abnormality of the dentition	23461	ABCA5	ORPHA:2026
HP:0000164	Abnormality of the dentition	175	AGA	ORPHA:93
HP:0000164	Abnormality of the dentition	4853	NOTCH2	ORPHA:955
HP:0000164	Abnormality of the dentition	4053	LTBP2	OMIM:251750
HP:0000164	Abnormality of the dentition	3981	LIG4	ORPHA:235
HP:0000164	Abnormality of the dentition	54888	NSUN2	ORPHA:235
HP:0000164	Abnormality of the dentition	10804	GJB6	ORPHA:477
HP:0000164	Abnormality of the dentition	10804	GJB6	OMIM:129500
HP:0000164	Abnormality of the dentition	2706	GJB2	ORPHA:477
HP:0000164	Abnormality of the dentition	3043	HBB	ORPHA:231214
HP:0000164	Abnormality of the dentition	3043	HBB	ORPHA:231226
HP:0000164	Abnormality of the dentition	51604	PIGT	OMIM:615398
HP:0000164	Abnormality of the dentition	1041	CDSN	ORPHA:90368
HP:0000164	Abnormality of the dentition	1041	CDSN	OMIM:146520
HP:0000164	Abnormality of the dentition	4803	NGF	ORPHA:64752
HP:0000164	Abnormality of the dentition	8239	USP9X	ORPHA:480880
HP:0000164	Abnormality of the dentition	8239	USP9X	OMIM:300968
HP:0000164	Abnormality of the dentition	2517	FUCA1	ORPHA:349
HP:0000164	Abnormality of the dentition	79228	THOC6	ORPHA:363444
HP:0000164	Abnormality of the dentition	58508	KMT2C	ORPHA:261652
HP:0000164	Abnormality of the dentition	4982	TNFRSF11B	ORPHA:2801
HP:0000164	Abnormality of the dentition	11128	POLR3A	ORPHA:3455
HP:0000164	Abnormality of the dentition	11107	PRDM5	ORPHA:90354
HP:0000164	Abnormality of the dentition	84627	ZNF469	ORPHA:90354
HP:0000164	Abnormality of the dentition	3481	IGF2	ORPHA:2128
HP:0000164	Abnormality of the dentition	10984	KCNQ1OT1	ORPHA:2128
HP:0000164	Abnormality of the dentition	283120	H19	ORPHA:2128
HP:0000164	Abnormality of the dentition	10743	RAI1	OMIM:182290
HP:0000164	Abnormality of the dentition	5308	PITX2	OMIM:137600
HP:0000164	Abnormality of the dentition	3977	LIFR	ORPHA:3206
HP:0000164	Abnormality of the dentition	3930	LBR	OMIM:169400
HP:0000164	Abnormality of the dentition	1832	DSP	OMIM:612908
HP:0000164	Abnormality of the dentition	585	BBS4	OMIM:615982
HP:0000164	Abnormality of the dentition	4212	MEIS2	ORPHA:261190
HP:0000164	Abnormality of the dentition	2245	FGD1	ORPHA:915
HP:0000164	Abnormality of the dentition	4204	MECP2	OMIM:312750
HP:0000164	Abnormality of the dentition	7507	XPA	ORPHA:910
HP:0000164	Abnormality of the dentition	7508	XPC	ORPHA:910
HP:0000164	Abnormality of the dentition	1643	DDB2	ORPHA:910
HP:0000164	Abnormality of the dentition	2073	ERCC5	ORPHA:910
HP:0000164	Abnormality of the dentition	64132	XYLT2	OMIM:605822
HP:0000164	Abnormality of the dentition	128674	PROKR2	ORPHA:432
HP:0000164	Abnormality of the dentition	2253	FGF8	ORPHA:432
HP:0000164	Abnormality of the dentition	60675	PROK2	ORPHA:432
HP:0000164	Abnormality of the dentition	55636	CHD7	ORPHA:432
HP:0000164	Abnormality of the dentition	6870	TACR3	ORPHA:432
HP:0000164	Abnormality of the dentition	26012	NSMF	ORPHA:432
HP:0000164	Abnormality of the dentition	55717	WDR11	ORPHA:432
HP:0000164	Abnormality of the dentition	9394	HS6ST1	ORPHA:432
HP:0000164	Abnormality of the dentition	2796	GNRH1	ORPHA:432
HP:0000164	Abnormality of the dentition	2798	GNRHR	ORPHA:432
HP:0000164	Abnormality of the dentition	84634	KISS1R	ORPHA:432
HP:0000164	Abnormality of the dentition	6866	TAC3	ORPHA:432
HP:0000164	Abnormality of the dentition	8822	FGF17	ORPHA:432
HP:0000164	Abnormality of the dentition	3814	KISS1	ORPHA:432
HP:0000164	Abnormality of the dentition	147495	APCDD1	OMIM:605389
HP:0000164	Abnormality of the dentition	2335	FN1	ORPHA:93315
HP:0000164	Abnormality of the dentition	9150	CTDP1	OMIM:604168
HP:0000164	Abnormality of the dentition	6651	SON	OMIM:617140
HP:0000164	Abnormality of the dentition	113179	ADAT3	ORPHA:363528
HP:0000164	Abnormality of the dentition	23586	RIGI	OMIM:616298
HP:0000164	Abnormality of the dentition	9342	SNAP29	ORPHA:66631
HP:0000164	Abnormality of the dentition	6144	RPL21	OMIM:615885
HP:0000164	Abnormality of the dentition	55784	MCTP2	ORPHA:1596
HP:0000164	Abnormality of the dentition	1825	DSC3	OMIM:613102
HP:0000164	Abnormality of the dentition	8085	KMT2D	ORPHA:2322
HP:0000164	Abnormality of the dentition	8085	KMT2D	OMIM:147920
HP:0000164	Abnormality of the dentition	7403	KDM6A	ORPHA:2322
HP:0000164	Abnormality of the dentition	7403	KDM6A	OMIM:147920
HP:0000164	Abnormality of the dentition	162514	TRPV3	ORPHA:659
HP:0000164	Abnormality of the dentition	64065	PERP	ORPHA:659
HP:0000164	Abnormality of the dentition	10651	MTX2	ORPHA:90153
HP:0000164	Abnormality of the dentition	51114	ZDHHC9	ORPHA:776
HP:0000164	Abnormality of the dentition	65109	UPF3B	ORPHA:776
HP:0000164	Abnormality of the dentition	147409	DSG4	ORPHA:573
HP:0000164	Abnormality of the dentition	3892	KRT86	ORPHA:573
HP:0000164	Abnormality of the dentition	3889	KRT83	ORPHA:573
HP:0000164	Abnormality of the dentition	3889	KRT83	OMIM:617756
HP:0000164	Abnormality of the dentition	3887	KRT81	ORPHA:573
HP:0000164	Abnormality of the dentition	8260	NAA10	OMIM:300855
HP:0000164	Abnormality of the dentition	8260	NAA10	ORPHA:568
HP:0000164	Abnormality of the dentition	55603	TENT5A	OMIM:617952
HP:0000164	Abnormality of the dentition	92344	GORAB	OMIM:231070
HP:0000164	Abnormality of the dentition	1001	CDH3	OMIM:601553
HP:0000164	Abnormality of the dentition	25942	SIN3A	ORPHA:94065
HP:0000164	Abnormality of the dentition	25942	SIN3A	ORPHA:500166
HP:0000164	Abnormality of the dentition	1301	COL11A1	ORPHA:560
HP:0000164	Abnormality of the dentition	8985	PLOD3	OMIM:612394
HP:0000164	Abnormality of the dentition	151516	ASPRV1	ORPHA:313
HP:0000164	Abnormality of the dentition	242	ALOX12B	ORPHA:313
HP:0000164	Abnormality of the dentition	126410	CYP4F22	ORPHA:313
HP:0000164	Abnormality of the dentition	6820	SULT2B1	ORPHA:313
HP:0000164	Abnormality of the dentition	26154	ABCA12	ORPHA:313
HP:0000164	Abnormality of the dentition	643418	LIPN	ORPHA:313
HP:0000164	Abnormality of the dentition	59344	ALOXE3	ORPHA:313
HP:0000164	Abnormality of the dentition	348938	NIPAL4	ORPHA:313
HP:0000164	Abnormality of the dentition	121214	SDR9C7	ORPHA:313
HP:0000164	Abnormality of the dentition	7051	TGM1	ORPHA:313
HP:0000164	Abnormality of the dentition	80185	TTI2	ORPHA:391307
HP:0000164	Abnormality of the dentition	9842	PLEKHM1	ORPHA:210110
HP:0000164	Abnormality of the dentition	200879	LIPH	OMIM:604379
HP:0000164	Abnormality of the dentition	29957	SLC25A24	ORPHA:2095
HP:0000164	Abnormality of the dentition	79574	EPS8L3	OMIM:612841
HP:0000164	Abnormality of the dentition	189	AGXT	ORPHA:93598
HP:0000164	Abnormality of the dentition	79983	POF1B	OMIM:300604
HP:0000164	Abnormality of the dentition	7204	TRIO	ORPHA:476126
HP:0000164	Abnormality of the dentition	10161	LPAR6	OMIM:278150
HP:0000164	Abnormality of the dentition	60681	FKBP10	OMIM:259450
HP:0000164	Abnormality of the dentition	4014	LORICRIN	OMIM:604117
HP:0000164	Abnormality of the dentition	4094	MAF	OMIM:601088
HP:0000164	Abnormality of the dentition	84905	ZNF341	OMIM:618282
HP:0000164	Abnormality of the dentition	5317	PKP1	ORPHA:158668
HP:0000164	Abnormality of the dentition	89970	RSPRY1	ORPHA:457395
HP:0000164	Abnormality of the dentition	23592	LEMD3	ORPHA:1306
HP:0000164	Abnormality of the dentition	79583	TMEM231	ORPHA:2752
HP:0000164	Abnormality of the dentition	23309	SIN3B	ORPHA:500166
HP:0000164	Abnormality of the dentition	65057	ACD	OMIM:616553
HP:0000164	Abnormality of the dentition	80169	CTC1	ORPHA:1775
HP:0000164	Abnormality of the dentition	26277	TINF2	ORPHA:1775
HP:0000164	Abnormality of the dentition	55651	NHP2	ORPHA:1775
HP:0000164	Abnormality of the dentition	79650	USB1	ORPHA:1775
HP:0000164	Abnormality of the dentition	55135	WRAP53	ORPHA:1775
HP:0000164	Abnormality of the dentition	51750	RTEL1	ORPHA:1775
HP:0000164	Abnormality of the dentition	4869	NPM1	ORPHA:1775
HP:0000164	Abnormality of the dentition	7012	TERC	ORPHA:1775
HP:0000164	Abnormality of the dentition	55505	NOP10	ORPHA:1775
HP:0000164	Abnormality of the dentition	5073	PARN	ORPHA:1775
HP:0000164	Abnormality of the dentition	1736	DKC1	ORPHA:1775
HP:0000164	Abnormality of the dentition	157657	CFAP418	OMIM:617406
HP:0000164	Abnormality of the dentition	3229	HOXC13	OMIM:614931
HP:0000164	Abnormality of the dentition	51002	TPRKB	ORPHA:2065
HP:0000164	Abnormality of the dentition	84942	WDR73	ORPHA:2065
HP:0000164	Abnormality of the dentition	55644	OSGEP	ORPHA:2065
HP:0000164	Abnormality of the dentition	57122	NUP107	ORPHA:2065
HP:0000164	Abnormality of the dentition	10785	WDR4	ORPHA:2065
HP:0000164	Abnormality of the dentition	112858	TP53RK	ORPHA:2065
HP:0000164	Abnormality of the dentition	8270	LAGE3	ORPHA:2065
HP:0000164	Abnormality of the dentition	25886	POC1A	OMIM:614813
HP:0000164	Abnormality of the dentition	4322	MMP13	ORPHA:2501
HP:0000164	Abnormality of the dentition	7852	CXCR4	ORPHA:51636
HP:0000164	Abnormality of the dentition	55343	SLC35C1	ORPHA:99843
HP:0000164	Abnormality of the dentition	10749	KIF1C	ORPHA:397946
HP:0000164	Abnormality of the dentition	51728	POLR3K	OMIM:619310
HP:0000164	Abnormality of the dentition	51	ACOX1	ORPHA:2971
HP:0000164	Abnormality of the dentition	55593	OTUD5	OMIM:301056
HP:0000164	Abnormality of the dentition	387119	CEP85L	OMIM:618873
HP:0000164	Abnormality of the dentition	3313	HSPA9	OMIM:616854
HP:0000164	Abnormality of the dentition	6926	TBX3	ORPHA:3138
HP:0000164	Abnormality of the dentition	6926	TBX3	OMIM:181450
HP:0000164	Abnormality of the dentition	4297	KMT2A	OMIM:605130
HP:0000164	Abnormality of the dentition	10940	POP1	OMIM:617396
HP:0000164	Abnormality of the dentition	7080	NKX2-1	ORPHA:209905
HP:0000164	Abnormality of the dentition	8091	HMGA2	ORPHA:94063
HP:0000164	Abnormality of the dentition	10815	CPLX1	ORPHA:280
HP:0000164	Abnormality of the dentition	10815	CPLX1	OMIM:194190
HP:0000164	Abnormality of the dentition	54872	PIGG	ORPHA:280
HP:0000164	Abnormality of the dentition	7469	NELFA	ORPHA:280
HP:0000164	Abnormality of the dentition	3954	LETM1	ORPHA:280
HP:0000164	Abnormality of the dentition	3954	LETM1	OMIM:194190
HP:0000164	Abnormality of the dentition	7468	NSD2	ORPHA:280
HP:0000164	Abnormality of the dentition	7468	NSD2	OMIM:194190
HP:0000164	Abnormality of the dentition	55012	PPP2R3C	OMIM:618419
HP:0000164	Abnormality of the dentition	3737	KCNA2	ORPHA:442835
HP:0000164	Abnormality of the dentition	1759	DNM1	ORPHA:442835
HP:0000164	Abnormality of the dentition	8120	AP3B2	ORPHA:442835
HP:0000164	Abnormality of the dentition	10991	SLC38A3	ORPHA:442835
HP:0000164	Abnormality of the dentition	51343	FZR1	ORPHA:442835
HP:0000164	Abnormality of the dentition	22906	TRAK1	ORPHA:442835
HP:0000164	Abnormality of the dentition	2566	GABRG2	ORPHA:442835
HP:0000164	Abnormality of the dentition	1917	EEF1A2	ORPHA:442835
HP:0000164	Abnormality of the dentition	2561	GABRB2	ORPHA:442835
HP:0000164	Abnormality of the dentition	8831	SYNGAP1	ORPHA:442835
HP:0000164	Abnormality of the dentition	7532	YWHAG	ORPHA:442835
HP:0000164	Abnormality of the dentition	79876	UBA5	ORPHA:442835
HP:0000164	Abnormality of the dentition	6328	SCN3A	ORPHA:442835
HP:0000164	Abnormality of the dentition	2558	GABRA5	ORPHA:442835
HP:0000164	Abnormality of the dentition	781	CACNA2D1	ORPHA:442835
HP:0000164	Abnormality of the dentition	2906	GRIN2D	ORPHA:442835
HP:0000164	Abnormality of the dentition	116150	NUS1	ORPHA:442835
HP:0000164	Abnormality of the dentition	10659	CELF2	ORPHA:442835
HP:0000164	Abnormality of the dentition	774	CACNA1B	ORPHA:442835
HP:0000164	Abnormality of the dentition	1213	CLTC	ORPHA:442835
HP:0000164	Abnormality of the dentition	51741	WWOX	ORPHA:442835
HP:0000164	Abnormality of the dentition	23334	SZT2	ORPHA:442835
HP:0000164	Abnormality of the dentition	348980	HCN1	ORPHA:442835
HP:0000164	Abnormality of the dentition	8867	SYNJ1	ORPHA:442835
HP:0000164	Abnormality of the dentition	2258	FGF13	ORPHA:442835
HP:0000164	Abnormality of the dentition	477	ATP1A2	ORPHA:442835
HP:0000164	Abnormality of the dentition	3745	KCNB1	ORPHA:442835
HP:0000164	Abnormality of the dentition	25977	NECAP1	ORPHA:442835
HP:0000164	Abnormality of the dentition	16	AARS1	ORPHA:442835
HP:0000164	Abnormality of the dentition	6334	SCN8A	ORPHA:442835
HP:0000164	Abnormality of the dentition	22866	CNKSR2	ORPHA:442835
HP:0000164	Abnormality of the dentition	9568	GABBR2	ORPHA:442835
HP:0000164	Abnormality of the dentition	2555	GABRA2	ORPHA:442835
HP:0000164	Abnormality of the dentition	55152	DALRD3	ORPHA:442835
HP:0000164	Abnormality of the dentition	773	CACNA1A	ORPHA:442835
HP:0000164	Abnormality of the dentition	26999	CYFIP2	ORPHA:442835
HP:0000164	Abnormality of the dentition	4915	NTRK2	ORPHA:442835
HP:0000164	Abnormality of the dentition	25973	PARS2	ORPHA:442835
HP:0000164	Abnormality of the dentition	64801	ARV1	ORPHA:442835
HP:0000164	Abnormality of the dentition	79947	DHDDS	ORPHA:442835
HP:0000164	Abnormality of the dentition	2257	FGF12	ORPHA:442835
HP:0000164	Abnormality of the dentition	5530	PPP3CA	ORPHA:442835
HP:0000164	Abnormality of the dentition	478	ATP1A3	ORPHA:442835
HP:0000164	Abnormality of the dentition	53834	FGFRL1	OMIM:194190
HP:0000164	Abnormality of the dentition	55181	SMG8	OMIM:619268
HP:0000164	Abnormality of the dentition	11342	RNF13	ORPHA:544503
HP:0000164	Abnormality of the dentition	229	ALDOB	OMIM:229600
HP:0000164	Abnormality of the dentition	7681	MKRN3	OMIM:176270
HP:0000164	Abnormality of the dentition	3653	IPW	OMIM:176270
HP:0000164	Abnormality of the dentition	54551	MAGEL2	OMIM:176270
HP:0000164	Abnormality of the dentition	791114	PWRN1	OMIM:176270
HP:0000164	Abnormality of the dentition	100033413	SNORD116-1	OMIM:176270
HP:0000164	Abnormality of the dentition	8924	HERC2	OMIM:176270
HP:0000164	Abnormality of the dentition	145624	PWAR1	OMIM:176270
HP:0000164	Abnormality of the dentition	23742	NPAP1	OMIM:176270
HP:0000164	Abnormality of the dentition	338433	SNORD115-1	OMIM:176270
HP:0000164	Abnormality of the dentition	8546	AP3B1	OMIM:608233
HP:0000164	Abnormality of the dentition	8036	SHOC2	ORPHA:2701
HP:0000164	Abnormality of the dentition	9244	CRLF1	OMIM:272430
HP:0000164	Abnormality of the dentition	84701	COX4I2	OMIM:612714
HP:0000164	Abnormality of the dentition	55131	RBM28	ORPHA:157954
HP:0000164	Abnormality of the dentition	55131	RBM28	OMIM:612079
HP:0000164	Abnormality of the dentition	6628	SNRPB	OMIM:117650
HP:0000164	Abnormality of the dentition	5184	PEPD	ORPHA:742
HP:0000164	Abnormality of the dentition	55719	SLF2	OMIM:620184
HP:0000164	Abnormality of the dentition	283209	PGM2L1	OMIM:620191
HP:0000164	Abnormality of the dentition	51611	DPH5	OMIM:620070
HP:0000164	Abnormality of the dentition	7750	ZMYM2	OMIM:619522
HP:0000164	Abnormality of the dentition	8643	PTCH2	ORPHA:377
HP:0000164	Abnormality of the dentition	523	ATP6V1A	ORPHA:357074
HP:0000164	Abnormality of the dentition	166929	SGMS2	OMIM:126550
HP:0000164	Abnormality of the dentition	1235	CCR6	ORPHA:220393
HP:0000164	Abnormality of the dentition	1490	CCN2	ORPHA:220393
HP:0000164	Abnormality of the dentition	3663	IRF5	ORPHA:220393
HP:0000164	Abnormality of the dentition	857	CAV1	ORPHA:220393
HP:0000164	Abnormality of the dentition	3123	HLA-DRB1	ORPHA:220393
HP:0000164	Abnormality of the dentition	57822	GRHL3	OMIM:606713
HP:0000164	Abnormality of the dentition	80067	DCAF17	OMIM:241080
HP:0000164	Abnormality of the dentition	80067	DCAF17	ORPHA:3464
HP:0000164	Abnormality of the dentition	8911	CACNA1I	OMIM:620114
HP:0000164	Abnormality of the dentition	10667	FARS2	ORPHA:466722
HP:0000164	Abnormality of the dentition	2892	GRIA3	ORPHA:364028
HP:0000164	Abnormality of the dentition	23241	PACS2	OMIM:618067
HP:0000164	Abnormality of the dentition	84265	POLR3GL	OMIM:619234
HP:0000164	Abnormality of the dentition	26128	KIFBP	OMIM:609460
HP:0000164	Abnormality of the dentition	4054	LTBP3	OMIM:601216
HP:0000164	Abnormality of the dentition	84919	PPP1R15B	OMIM:616817
HP:0000164	Abnormality of the dentition	84919	PPP1R15B	ORPHA:391408
HP:0000164	Abnormality of the dentition	93587	TRMT10A	ORPHA:391408
HP:0000164	Abnormality of the dentition	83999	KREMEN1	OMIM:617392
HP:0000164	Abnormality of the dentition	79644	SRD5A3	ORPHA:324737
HP:0000164	Abnormality of the dentition	64919	BCL11B	OMIM:618092
HP:0000164	Abnormality of the dentition	1523	CUX1	OMIM:618330
HP:0000164	Abnormality of the dentition	25871	NEPRO	OMIM:618853
HP:0000164	Abnormality of the dentition	10075	HUWE1	OMIM:309590
HP:0000164	Abnormality of the dentition	875	CBS	ORPHA:394
HP:0000164	Abnormality of the dentition	875	CBS	OMIM:236200
HP:0000164	Abnormality of the dentition	6134	RPL10	OMIM:300998
HP:0000164	Abnormality of the dentition	6134	RPL10	ORPHA:435938
HP:0000164	Abnormality of the dentition	341640	FREM2	ORPHA:2052
HP:0000164	Abnormality of the dentition	80144	FRAS1	ORPHA:2052
HP:0000164	Abnormality of the dentition	80144	FRAS1	OMIM:219000
HP:0000164	Abnormality of the dentition	23426	GRIP1	ORPHA:2052
HP:0000164	Abnormality of the dentition	23013	SPEN	OMIM:619312
HP:0000164	Abnormality of the dentition	5351	PLOD1	OMIM:225400
HP:0000164	Abnormality of the dentition	5648	MASP1	OMIM:257920
HP:0000164	Abnormality of the dentition	5332	PLCB4	OMIM:614669
HP:0000164	Abnormality of the dentition	5332	PLCB4	ORPHA:137888
HP:0000164	Abnormality of the dentition	6418	SET	OMIM:618106
HP:0000164	Abnormality of the dentition	50814	NSDHL	ORPHA:251383
HP:0000164	Abnormality of the dentition	50814	NSDHL	OMIM:300831
HP:0000164	Abnormality of the dentition	23118	TAB2	ORPHA:228410
HP:0000164	Abnormality of the dentition	91179	SCARF2	OMIM:600920
HP:0000164	Abnormality of the dentition	4854	NOTCH3	OMIM:130720
HP:0000164	Abnormality of the dentition	4854	NOTCH3	ORPHA:2789
HP:0000164	Abnormality of the dentition	1278	COL1A2	ORPHA:230851
HP:0000164	Abnormality of the dentition	80816	ASXL3	OMIM:615485
HP:0000164	Abnormality of the dentition	80816	ASXL3	ORPHA:352577
HP:0000164	Abnormality of the dentition	55209	SETD5	OMIM:615761
HP:0000164	Abnormality of the dentition	10026	PIGK	OMIM:618879
HP:0000164	Abnormality of the dentition	1289	COL5A1	OMIM:619329
HP:0000164	Abnormality of the dentition	6660	SOX5	ORPHA:313892
HP:0000164	Abnormality of the dentition	6660	SOX5	OMIM:616803
HP:0000164	Abnormality of the dentition	56992	KIF15	ORPHA:261323
HP:0000164	Abnormality of the dentition	2200	FBN1	OMIM:154700
HP:0000164	Abnormality of the dentition	54496	PRMT7	OMIM:617157
HP:0000164	Abnormality of the dentition	85358	SHANK3	ORPHA:48652
HP:0000164	Abnormality of the dentition	56172	ANKH	OMIM:123000
HP:0000164	Abnormality of the dentition	201163	FLCN	OMIM:610883
HP:0000164	Abnormality of the dentition	64131	XYLT1	OMIM:615777
HP:0000164	Abnormality of the dentition	84100	ARL6	OMIM:209900
HP:0000164	Abnormality of the dentition	79140	CCDC28B	OMIM:209900
HP:0000164	Abnormality of the dentition	582	BBS1	OMIM:209900
HP:0000164	Abnormality of the dentition	29940	DSE	OMIM:615539
HP:0000164	Abnormality of the dentition	57190	SELENON	ORPHA:2020
HP:0000164	Abnormality of the dentition	58	ACTA1	ORPHA:2020
HP:0000164	Abnormality of the dentition	4633	MYL2	ORPHA:2020
HP:0000164	Abnormality of the dentition	3679	ITGA7	ORPHA:2020
HP:0000164	Abnormality of the dentition	7169	TPM2	ORPHA:2020
HP:0000164	Abnormality of the dentition	9200	HACD1	ORPHA:2020
HP:0000164	Abnormality of the dentition	7170	TPM3	ORPHA:2020
HP:0000164	Abnormality of the dentition	51776	MAP3K20	ORPHA:2020
HP:0000164	Abnormality of the dentition	5424	POLD1	OMIM:615381
HP:0000164	Abnormality of the dentition	23327	NEDD4L	OMIM:617201
HP:0000164	Abnormality of the dentition	4015	LOX	OMIM:617168
HP:0000164	Abnormality of the dentition	25	ABL1	OMIM:617602
HP:0000164	Abnormality of the dentition	1906	EDN1	ORPHA:137888
HP:0000164	Abnormality of the dentition	6611	SMS	ORPHA:3063
HP:0000164	Abnormality of the dentition	6611	SMS	OMIM:309583
HP:0000164	Abnormality of the dentition	9895	TECPR2	OMIM:615031
HP:0000164	Abnormality of the dentition	9895	TECPR2	ORPHA:320385
HP:0000164	Abnormality of the dentition	57498	KIDINS220	OMIM:617296
HP:0000164	Abnormality of the dentition	57003	CCDC47	OMIM:618268
HP:0000164	Abnormality of the dentition	4841	NONO	OMIM:300967
HP:0000164	Abnormality of the dentition	4841	NONO	ORPHA:466791
HP:0000164	Abnormality of the dentition	8567	MADD	OMIM:619005
HP:0000164	Abnormality of the dentition	163175	LGI4	OMIM:617468
HP:0000164	Abnormality of the dentition	113246	C12orf57	OMIM:218340
HP:0000164	Abnormality of the dentition	8815	BANF1	OMIM:614008
HP:0000164	Abnormality of the dentition	11141	IL1RAPL1	OMIM:300143
HP:0000164	Abnormality of the dentition	284361	EMC10	OMIM:619264
HP:0000164	Abnormality of the dentition	4921	DDR2	OMIM:618175
HP:0000164	Abnormality of the dentition	529	ATP6V1E1	OMIM:617402
HP:0000164	Abnormality of the dentition	6878	TAF6	OMIM:617126
HP:0000164	Abnormality of the dentition	64388	GREM2	OMIM:617275
HP:0000164	Abnormality of the dentition	2972	BRF1	OMIM:616202
HP:0000164	Abnormality of the dentition	2972	BRF1	ORPHA:444072
HP:0000164	Abnormality of the dentition	221496	LEMD2	OMIM:619322
HP:0000164	Abnormality of the dentition	816	CAMK2B	OMIM:617799
HP:0000164	Abnormality of the dentition	1909	EDNRA	OMIM:616367
HP:0000164	Abnormality of the dentition	2314	FLII	ORPHA:819
HP:0000164	Abnormality of the dentition	23096	IQSEC2	ORPHA:819
HP:0000164	Abnormality of the dentition	10522	DEAF1	ORPHA:819
HP:0000164	Abnormality of the dentition	9871	SEC24D	ORPHA:2050
HP:0000164	Abnormality of the dentition	5034	P4HB	ORPHA:2050
HP:0000164	Abnormality of the dentition	9820	CUL7	ORPHA:2616
HP:0000164	Abnormality of the dentition	23363	OBSL1	ORPHA:2616
HP:0000164	Abnormality of the dentition	83987	CCDC8	ORPHA:2616
HP:0000164	Abnormality of the dentition	6804	STX1A	ORPHA:904
HP:0000164	Abnormality of the dentition	7461	CLIP2	ORPHA:904
HP:0000164	Abnormality of the dentition	84277	DNAJC30	ORPHA:904
HP:0000164	Abnormality of the dentition	8468	FKBP6	ORPHA:904
HP:0000164	Abnormality of the dentition	5982	RFC2	ORPHA:904
HP:0000164	Abnormality of the dentition	2969	GTF2I	ORPHA:904
HP:0000164	Abnormality of the dentition	3984	LIMK1	ORPHA:904
HP:0000164	Abnormality of the dentition	9569	GTF2IRD1	ORPHA:904
HP:0000164	Abnormality of the dentition	155382	VPS37D	ORPHA:904
HP:0000164	Abnormality of the dentition	155368	METTL27	ORPHA:904
HP:0000164	Abnormality of the dentition	114049	BUD23	ORPHA:904
HP:0000164	Abnormality of the dentition	7458	EIF4H	ORPHA:904
HP:0000164	Abnormality of the dentition	84163	GTF2IRD2	ORPHA:904
HP:0000164	Abnormality of the dentition	9275	BCL7B	ORPHA:904
HP:0000164	Abnormality of the dentition	26608	TBL2	ORPHA:904
HP:0000164	Abnormality of the dentition	653361	NCF1	ORPHA:904
HP:0000164	Abnormality of the dentition	135886	TMEM270	ORPHA:904
HP:0000164	Abnormality of the dentition	51085	MLXIPL	ORPHA:904
HP:0000164	Abnormality of the dentition	9031	BAZ1B	ORPHA:904
HP:0000164	Abnormality of the dentition	2006	ELN	ORPHA:904
HP:0000164	Abnormality of the dentition	5190	PEX6	ORPHA:3220
HP:0000164	Abnormality of the dentition	5728	PTEN	ORPHA:744
HP:0000164	Abnormality of the dentition	207	AKT1	ORPHA:744
HP:0000164	Abnormality of the dentition	84172	POLR1B	ORPHA:861
HP:0000164	Abnormality of the dentition	9533	POLR1C	ORPHA:861
HP:0000164	Abnormality of the dentition	51082	POLR1D	ORPHA:861
HP:0000164	Abnormality of the dentition	6949	TCOF1	ORPHA:861
HP:0000164	Abnormality of the dentition	63916	ELMO2	ORPHA:3019
HP:0000164	Abnormality of the dentition	6905	TBCE	ORPHA:2323
HP:0000164	Abnormality of the dentition	112752	IFT43	ORPHA:1515
HP:0000164	Abnormality of the dentition	51098	IFT52	ORPHA:1515
HP:0000164	Abnormality of the dentition	57728	WDR19	ORPHA:1515
HP:0000164	Abnormality of the dentition	5295	PIK3R1	ORPHA:3163
HP:0000164	Abnormality of the dentition	51360	MBTPS2	ORPHA:2273
HP:0000164	Abnormality of the dentition	55315	SLC29A3	ORPHA:1782
HP:0000164	Abnormality of the dentition	1062	CENPE	ORPHA:808
HP:0000164	Abnormality of the dentition	5932	RBBP8	ORPHA:808
HP:0000164	Abnormality of the dentition	79902	NUP85	ORPHA:808
HP:0000164	Abnormality of the dentition	84126	ATRIP	ORPHA:808
HP:0000164	Abnormality of the dentition	55835	CENPJ	ORPHA:808
HP:0000164	Abnormality of the dentition	10293	TRAIP	ORPHA:808
HP:0000164	Abnormality of the dentition	10733	PLK4	ORPHA:808
HP:0000164	Abnormality of the dentition	1312	COMT	ORPHA:567
HP:0000164	Abnormality of the dentition	221037	JMJD1C	ORPHA:567
HP:0000164	Abnormality of the dentition	2812	GP1BB	ORPHA:567
HP:0000164	Abnormality of the dentition	6239	RREB1	ORPHA:567
HP:0000164	Abnormality of the dentition	6899	TBX1	ORPHA:567
HP:0000164	Abnormality of the dentition	7290	HIRA	ORPHA:567
HP:0000164	Abnormality of the dentition	9632	SEC24C	ORPHA:567
HP:0000164	Abnormality of the dentition	7353	UFD1	ORPHA:567
HP:0000164	Abnormality of the dentition	421	ARVCF	ORPHA:567
HP:0000164	Abnormality of the dentition	54539	NDUFB11	ORPHA:2556
HP:0000164	Abnormality of the dentition	1349	COX7B	ORPHA:2556
HP:0000164	Abnormality of the dentition	3052	HCCS	ORPHA:2556
HP:0000164	Abnormality of the dentition	64072	CDH23	ORPHA:231169
HP:0000164	Abnormality of the dentition	10083	USH1C	ORPHA:231169
HP:0000164	Abnormality of the dentition	124590	USH1G	ORPHA:231169
HP:0000164	Abnormality of the dentition	83715	ESPN	ORPHA:231169
HP:0000164	Abnormality of the dentition	10518	CIB2	ORPHA:231169
HP:0000164	Abnormality of the dentition	65217	PCDH15	ORPHA:231169
HP:0000164	Abnormality of the dentition	5144	PDE4D	ORPHA:439822
HP:0000164	Abnormality of the dentition	84818	IL17RC	ORPHA:1334
HP:0000164	Abnormality of the dentition	64581	CLEC7A	ORPHA:1334
HP:0000164	Abnormality of the dentition	23765	IL17RA	ORPHA:1334
HP:0000164	Abnormality of the dentition	10758	TRAF3IP2	ORPHA:1334
HP:0000164	Abnormality of the dentition	112744	IL17F	ORPHA:1334
HP:0000164	Abnormality of the dentition	2720	GLB1	OMIM:253010
HP:0000164	Abnormality of the dentition	2588	GALNS	OMIM:253000
HP:0000164	Abnormality of the dentition	3479	IGF1	ORPHA:73272
HP:0000164	Abnormality of the dentition	5573	PRKAR1A	ORPHA:950
HP:0000164	Abnormality of the dentition	5573	PRKAR1A	OMIM:101800
HP:0000164	Abnormality of the dentition	55703	POLR3B	OMIM:614381
HP:0000164	Abnormality of the dentition	9759	HDAC4	OMIM:619797
HP:0000164	Abnormality of the dentition	9839	ZEB2	OMIM:235730
HP:0000164	Abnormality of the dentition	9839	ZEB2	ORPHA:261552
HP:0000164	Abnormality of the dentition	9839	ZEB2	ORPHA:261537
HP:0000164	Abnormality of the dentition	411	ARSB	OMIM:253200
HP:0000164	Abnormality of the dentition	114803	MYSM1	ORPHA:508542
HP:0000164	Abnormality of the dentition	117581	TWIST2	ORPHA:1231
HP:0000164	Abnormality of the dentition	117581	TWIST2	OMIM:209885
HP:0000164	Abnormality of the dentition	9723	SEMA3E	ORPHA:138
HP:0000164	Abnormality of the dentition	79631	EFL1	ORPHA:811
HP:0000164	Abnormality of the dentition	51119	SBDS	ORPHA:811
HP:0000164	Abnormality of the dentition	6729	SRP54	ORPHA:811
HP:0000164	Abnormality of the dentition	9469	CHST3	ORPHA:263463
HP:0000164	Abnormality of the dentition	9469	CHST3	OMIM:143095
HP:0000164	Abnormality of the dentition	10484	SEC23A	ORPHA:50814
HP:0000164	Abnormality of the dentition	10484	SEC23A	OMIM:607812
HP:0000164	Abnormality of the dentition	8200	GDF5	ORPHA:63442
HP:0000164	Abnormality of the dentition	23522	KAT6B	OMIM:606170
HP:0000164	Abnormality of the dentition	23522	KAT6B	ORPHA:85201
HP:0000164	Abnormality of the dentition	6597	SMARCA4	ORPHA:1465
HP:0000164	Abnormality of the dentition	8289	ARID1A	ORPHA:1465
HP:0000164	Abnormality of the dentition	8289	ARID1A	OMIM:614607
HP:0000164	Abnormality of the dentition	5977	DPF2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6601	SMARCC2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6602	SMARCD1	ORPHA:1465
HP:0000164	Abnormality of the dentition	196528	ARID2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6605	SMARCE1	ORPHA:1465
HP:0000164	Abnormality of the dentition	6664	SOX11	ORPHA:1465
HP:0000164	Abnormality of the dentition	6664	SOX11	OMIM:615866
HP:0000164	Abnormality of the dentition	6821	SUOX	OMIM:272300
HP:0000164	Abnormality of the dentition	57231	SNX14	OMIM:616354
HP:0000164	Abnormality of the dentition	7067	THRA	OMIM:614450
HP:0000164	Abnormality of the dentition	139285	AMER1	ORPHA:2780
HP:0000164	Abnormality of the dentition	26040	SETBP1	ORPHA:798
HP:0000164	Abnormality of the dentition	54	ACP5	ORPHA:1855
HP:0000164	Abnormality of the dentition	23476	BRD4	ORPHA:199
HP:0000164	Abnormality of the dentition	9126	SMC3	ORPHA:199
HP:0000164	Abnormality of the dentition	8243	SMC1A	ORPHA:199
HP:0000164	Abnormality of the dentition	25836	NIPBL	ORPHA:199
HP:0000164	Abnormality of the dentition	25836	NIPBL	OMIM:122470
HP:0000164	Abnormality of the dentition	55869	HDAC8	ORPHA:199
HP:0000164	Abnormality of the dentition	5885	RAD21	ORPHA:199
HP:0000164	Abnormality of the dentition	9321	TRIP11	ORPHA:166272
HP:0000164	Abnormality of the dentition	9321	TRIP11	OMIM:184260
HP:0000164	Abnormality of the dentition	285590	SH3PXD2B	ORPHA:137834
HP:0000164	Abnormality of the dentition	7040	TGFB1	ORPHA:1328
HP:0000164	Abnormality of the dentition	60401	EDA2R	ORPHA:181
HP:0000164	Abnormality of the dentition	60676	PAPPA2	OMIM:619489
HP:0000164	Abnormality of the dentition	5159	PDGFRB	OMIM:601812
HP:0000164	Abnormality of the dentition	5744	PTHLH	OMIM:613382
HP:0000164	Abnormality of the dentition	1806	DPYD	ORPHA:1675
HP:0000164	Abnormality of the dentition	6506	SLC1A2	OMIM:617105
HP:0000164	Abnormality of the dentition	3423	IDS	OMIM:309900
HP:0000164	Abnormality of the dentition	4313	MMP2	OMIM:259600
HP:0000164	Abnormality of the dentition	91252	SLC39A13	OMIM:612350
HP:0000164	Abnormality of the dentition	84168	ANTXR1	ORPHA:2067
HP:0000164	Abnormality of the dentition	5277	PIGA	OMIM:301072
HP:0000164	Abnormality of the dentition	2690	GHR	ORPHA:633
HP:0000164	Abnormality of the dentition	121340	SP7	OMIM:613849
HP:0000164	Abnormality of the dentition	6558	SLC12A2	OMIM:619080
HP:0000164	Abnormality of the dentition	51574	LARP7	OMIM:615071
HP:0000164	Abnormality of the dentition	51574	LARP7	ORPHA:319671
HP:0000164	Abnormality of the dentition	51126	NAA20	OMIM:619717
HP:0000164	Abnormality of the dentition	26115	TANC2	OMIM:618906
HP:0000164	Abnormality of the dentition	4125	MAN2B1	ORPHA:309282
HP:0000164	Abnormality of the dentition	4125	MAN2B1	OMIM:248500
HP:0000164	Abnormality of the dentition	80232	WDR26	ORPHA:513456
HP:0000164	Abnormality of the dentition	80232	WDR26	OMIM:617616
HP:0000164	Abnormality of the dentition	9578	CDC42BPB	OMIM:619841
HP:0000164	Abnormality of the dentition	10300	KATNB1	OMIM:616212
HP:0000164	Abnormality of the dentition	9442	MED27	OMIM:619286
HP:0000164	Abnormality of the dentition	10978	CLP1	OMIM:615803
HP:0000164	Abnormality of the dentition	23097	CDK19	OMIM:618916
HP:0000164	Abnormality of the dentition	6904	TBCD	ORPHA:496641
HP:0000164	Abnormality of the dentition	6904	TBCD	OMIM:617193
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:98794
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:98795
HP:0000164	Abnormality of the dentition	7337	UBE3A	OMIM:105830
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:411511
HP:0000164	Abnormality of the dentition	4948	OCA2	ORPHA:98794
HP:0000164	Abnormality of the dentition	90	ACVR1	OMIM:135100
HP:0000164	Abnormality of the dentition	51132	RLIM	OMIM:300978
HP:0000164	Abnormality of the dentition	23221	RHOBTB2	OMIM:618004
HP:0000164	Abnormality of the dentition	3899	AFF3	OMIM:619297
HP:0000164	Abnormality of the dentition	9739	SETD1A	OMIM:619056
HP:0000164	Abnormality of the dentition	7965	AIMP2	OMIM:618006
HP:0000164	Abnormality of the dentition	23389	MED13L	ORPHA:369891
HP:0000164	Abnormality of the dentition	9496	TBX4	ORPHA:261279
HP:0000164	Abnormality of the dentition	10087	CERT1	OMIM:616351
HP:0000164	Abnormality of the dentition	3340	NDST1	OMIM:616116
HP:0000164	Abnormality of the dentition	79718	TBL1XR1	ORPHA:487825
HP:0000164	Abnormality of the dentition	79718	TBL1XR1	OMIM:602342
HP:0000164	Abnormality of the dentition	94005	PIGS	OMIM:618143
HP:0000164	Abnormality of the dentition	5792	PTPRF	OMIM:616001
HP:0000164	Abnormality of the dentition	116115	ZNF526	OMIM:619877
HP:0000164	Abnormality of the dentition	3098	HK1	OMIM:618547
HP:0000164	Abnormality of the dentition	8314	BAP1	OMIM:619762
HP:0000164	Abnormality of the dentition	55755	CDK5RAP2	OMIM:604804
HP:0000164	Abnormality of the dentition	5500	PPP1CB	OMIM:617506
HP:0000164	Abnormality of the dentition	6748	SSR4	ORPHA:370927
HP:0000164	Abnormality of the dentition	6748	SSR4	OMIM:300934
HP:0000164	Abnormality of the dentition	4677	NARS1	OMIM:619092
HP:0000164	Abnormality of the dentition	2990	GUSB	OMIM:253220
HP:0000164	Abnormality of the dentition	284058	KANSL1	OMIM:610443
HP:0000164	Abnormality of the dentition	1968	EIF2S3	OMIM:300148
HP:0000164	Abnormality of the dentition	4088	SMAD3	ORPHA:284984
HP:0000164	Abnormality of the dentition	4088	SMAD3	OMIM:613795
HP:0000164	Abnormality of the dentition	2673	GFPT1	OMIM:608931
HP:0000164	Abnormality of the dentition	1145	CHRNE	OMIM:608931
HP:0000164	Abnormality of the dentition	79912	PYROXD1	OMIM:617258
HP:0000164	Abnormality of the dentition	8818	DPM2	ORPHA:329178
HP:0000164	Abnormality of the dentition	998	CDC42	OMIM:616737
HP:0000164	Abnormality of the dentition	998	CDC42	ORPHA:487796
HP:0000164	Abnormality of the dentition	1146	CHRNG	OMIM:265000
HP:0000164	Abnormality of the dentition	7102	TSPAN7	OMIM:300210
HP:0000164	Abnormality of the dentition	4141	MARS1	OMIM:619692
HP:0000164	Abnormality of the dentition	444	ASPH	OMIM:601552
HP:0000164	Abnormality of the dentition	1954	MEGF8	OMIM:614976
HP:0000164	Abnormality of the dentition	8642	DCHS1	OMIM:601390
HP:0000164	Abnormality of the dentition	4534	MTM1	OMIM:310400
HP:0000164	Abnormality of the dentition	5075	PAX1	OMIM:615560
HP:0000164	Abnormality of the dentition	4041	LRP5	OMIM:144750
HP:0000164	Abnormality of the dentition	6497	SKI	OMIM:182212
HP:0000164	Abnormality of the dentition	1795	DOCK3	OMIM:618292
HP:0000164	Abnormality of the dentition	27161	AGO2	OMIM:619149
HP:0000164	Abnormality of the dentition	4654	MYOD1	OMIM:618975
HP:0000164	Abnormality of the dentition	2719	GPC3	OMIM:312870
HP:0000164	Abnormality of the dentition	2239	GPC4	OMIM:312870
HP:0000164	Abnormality of the dentition	5130	PCYT1A	OMIM:608940
HP:0000164	Abnormality of the dentition	6654	SOS1	OMIM:610733
HP:0000164	Abnormality of the dentition	5604	MAP2K1	OMIM:163950
HP:0000164	Abnormality of the dentition	5781	PTPN11	OMIM:163950
HP:0000164	Abnormality of the dentition	641	BLM	OMIM:210900
HP:0000164	Abnormality of the dentition	8367	H4C5	OMIM:619950
HP:0000164	Abnormality of the dentition	5361	PLXNA1	OMIM:619955
HP:0000164	Abnormality of the dentition	2296	FOXC1	ORPHA:782
HP:0000164	Abnormality of the dentition	2296	FOXC1	OMIM:602482
HP:0000164	Abnormality of the dentition	10982	MAPRE2	OMIM:616734
HP:0000164	Abnormality of the dentition	4998	ORC1	OMIM:224690
HP:0000164	Abnormality of the dentition	92255	LMBRD2	OMIM:619694
HP:0000164	Abnormality of the dentition	6023	RMRP	OMIM:607095
HP:0000164	Abnormality of the dentition	3425	IDUA	OMIM:607014
HP:0000164	Abnormality of the dentition	9653	HS2ST1	OMIM:619194
HP:0000164	Abnormality of the dentition	9851	KIAA0753	OMIM:619479
HP:0000164	Abnormality of the dentition	79005	SCNM1	OMIM:620107
HP:0000164	Abnormality of the dentition	5594	MAPK1	OMIM:619087
HP:0000164	Abnormality of the dentition	57192	MCOLN1	ORPHA:578
HP:0000164	Abnormality of the dentition	126792	B3GALT6	ORPHA:536467
HP:0000164	Abnormality of the dentition	775	CACNA1C	OMIM:601005
HP:0000164	Abnormality of the dentition	5557	PRIM1	OMIM:620005
HP:0000164	Abnormality of the dentition	26229	B3GAT3	OMIM:245600
HP:0000164	Abnormality of the dentition	9742	IFT140	OMIM:266920
HP:0000164	Abnormality of the dentition	8621	CDK13	OMIM:617360
HP:0000164	Abnormality of the dentition	341208	HEPHL1	OMIM:261990
HP:0000164	Abnormality of the dentition	2702	GJA5	OMIM:612474
HP:0000164	Abnormality of the dentition	2703	GJA8	OMIM:612474
HP:0000164	Abnormality of the dentition	50964	SOST	OMIM:269500
HP:0000164	Abnormality of the dentition	56915	EXOSC5	OMIM:619576
HP:0000164	Abnormality of the dentition	7518	XRCC4	OMIM:616541
HP:0000164	Abnormality of the dentition	22930	RAB3GAP1	ORPHA:1387
HP:0000164	Abnormality of the dentition	25782	RAB3GAP2	ORPHA:1387
HP:0000164	Abnormality of the dentition	25782	RAB3GAP2	OMIM:212720
HP:0000164	Abnormality of the dentition	5430	POLR2A	OMIM:618603
HP:0000164	Abnormality of the dentition	4848	CNOT2	OMIM:618608
HP:0000164	Abnormality of the dentition	54828	BCAS3	OMIM:619641
HP:0000164	Abnormality of the dentition	5718	PSMD12	ORPHA:529962
HP:0000164	Abnormality of the dentition	2186	BPTF	ORPHA:529962
HP:0000164	Abnormality of the dentition	165	AEBP1	ORPHA:536532
HP:0000164	Abnormality of the dentition	81794	ADAMTS10	OMIM:277600
HP:0000164	Abnormality of the dentition	2737	GLI3	ORPHA:672
HP:0000164	Abnormality of the dentition	2737	GLI3	OMIM:146510
HP:0000164	Abnormality of the dentition	3728	JUP	ORPHA:158687
HP:0000164	Abnormality of the dentition	22858	CILK1	OMIM:612651
HP:0000164	Abnormality of the dentition	153241	CEP120	OMIM:616300
HP:0000164	Abnormality of the dentition	1801	DPH1	OMIM:616901
HP:0000164	Abnormality of the dentition	54903	MKS1	OMIM:249000
HP:0000164	Abnormality of the dentition	27152	INTU	OMIM:617925
HP:0000164	Abnormality of the dentition	7407	VARS1	OMIM:617802
HP:0000164	Abnormality of the dentition	4920	ROR2	OMIM:268310
HP:0000164	Abnormality of the dentition	4920	ROR2	OMIM:113000
HP:0000164	Abnormality of the dentition	5281	PIGF	OMIM:619356
HP:0000164	Abnormality of the dentition	375056	MIA3	OMIM:619269
HP:0000164	Abnormality of the dentition	54757	FAM20A	OMIM:204690
HP:0000164	Abnormality of the dentition	92949	ADAMTSL1	ORPHA:521445
HP:0000164	Abnormality of the dentition	6659	SOX4	OMIM:618506
HP:0000164	Abnormality of the dentition	4868	NPHS1	ORPHA:839
HP:0000164	Abnormality of the dentition	4796	TONSL	ORPHA:93357
HP:0000164	Abnormality of the dentition	57465	TBC1D24	ORPHA:79500
HP:0000164	Abnormality of the dentition	6598	SMARCB1	OMIM:614608
HP:0000164	Abnormality of the dentition	2542	SLC37A4	ORPHA:79259
HP:0000164	Abnormality of the dentition	54084	TSPEAR	OMIM:618180
HP:0000164	Abnormality of the dentition	57492	ARID1B	OMIM:135900
HP:0000164	Abnormality of the dentition	9853	RUSC2	OMIM:617773
HP:0000164	Abnormality of the dentition	60529	ALX4	OMIM:613451
HP:0000164	Abnormality of the dentition	60529	ALX4	ORPHA:228390
HP:0000164	Abnormality of the dentition	8517	IKBKG	OMIM:300636
HP:0000164	Abnormality of the dentition	8517	IKBKG	OMIM:301081
HP:0000164	Abnormality of the dentition	8517	IKBKG	OMIM:308300
HP:0000164	Abnormality of the dentition	6603	SMARCD2	OMIM:617475
HP:0000164	Abnormality of the dentition	2121	EVC	OMIM:193530
HP:0000164	Abnormality of the dentition	2121	EVC	ORPHA:952
HP:0000164	Abnormality of the dentition	132884	EVC2	OMIM:193530
HP:0000164	Abnormality of the dentition	132884	EVC2	ORPHA:952
HP:0000164	Abnormality of the dentition	64682	ANAPC1	OMIM:618625
HP:0000164	Abnormality of the dentition	10913	EDAR	OMIM:224900
HP:0000164	Abnormality of the dentition	1500	CTNND1	OMIM:617681
HP:0000164	Abnormality of the dentition	1500	CTNND1	ORPHA:1997
HP:0000164	Abnormality of the dentition	5567	PRKACB	OMIM:619143
HP:0000164	Abnormality of the dentition	1723	DHODH	OMIM:263750
HP:0000164	Abnormality of the dentition	4792	NFKBIA	OMIM:612132
HP:0000164	Abnormality of the dentition	51412	ACTL6B	OMIM:618470
HP:0000164	Abnormality of the dentition	8242	KDM5C	OMIM:300534
HP:0000164	Abnormality of the dentition	153642	ARSK	OMIM:619698
HP:0000164	Abnormality of the dentition	5566	PRKACA	OMIM:619142
HP:0000164	Abnormality of the dentition	89910	UBE3B	OMIM:244450
HP:0000164	Abnormality of the dentition	51109	RDH11	ORPHA:436245
HP:0000164	Abnormality of the dentition	55690	PACS1	ORPHA:329224
HP:0000164	Abnormality of the dentition	55690	PACS1	OMIM:615009
HP:0000164	Abnormality of the dentition	6938	TCF12	OMIM:619718
HP:0000164	Abnormality of the dentition	55081	IFT57	OMIM:617927
HP:0000164	Abnormality of the dentition	3778	KCNMA1	OMIM:618729
HP:0000164	Abnormality of the dentition	23137	SMC5	OMIM:620185
HP:0000164	Abnormality of the dentition	79879	CCDC134	OMIM:619795
HP:0000164	Abnormality of the dentition	10491	CRTAP	OMIM:610682
HP:0000164	Abnormality of the dentition	5479	PPIB	OMIM:259440
HP:0000164	Abnormality of the dentition	6678	SPARC	OMIM:616507
HP:0000164	Abnormality of the dentition	387733	IFITM5	OMIM:610967
HP:0000164	Abnormality of the dentition	5176	SERPINF1	OMIM:613982
HP:0000164	Abnormality of the dentition	649	BMP1	OMIM:614856
HP:0000164	Abnormality of the dentition	871	SERPINH1	OMIM:613848
HP:0000164	Abnormality of the dentition	64175	P3H1	OMIM:610915
HP:0000164	Abnormality of the dentition	3689	ITGB2	OMIM:116920
HP:0000164	Abnormality of the dentition	5340	PLG	ORPHA:722
HP:0000164	Abnormality of the dentition	5340	PLG	OMIM:217090
HP:0000164	Abnormality of the dentition	1130	LYST	ORPHA:167
HP:0000164	Abnormality of the dentition	1130	LYST	OMIM:214500
HP:0000164	Abnormality of the dentition	84876	ORAI1	OMIM:612782
HP:0000164	Abnormality of the dentition	6786	STIM1	OMIM:612783
HP:0000164	Abnormality of the dentition	55858	TMEM165	OMIM:614727
HP:0000164	Abnormality of the dentition	149461	CLDN19	OMIM:248190
HP:0000164	Abnormality of the dentition	257	ALX3	OMIM:136760
HP:0000164	Abnormality of the dentition	6045	RNF2	OMIM:619460
HP:0000164	Abnormality of the dentition	57459	GATAD2B	ORPHA:363686
HP:0000164	Abnormality of the dentition	22856	CHSY1	ORPHA:363417
HP:0000164	Abnormality of the dentition	546	ATRX	OMIM:309580
HP:0000164	Abnormality of the dentition	546	ATRX	OMIM:301040
HP:0000164	Abnormality of the dentition	10274	STAG1	ORPHA:502434
HP:0000164	Abnormality of the dentition	1788	DNMT3A	ORPHA:404443
HP:0000164	Abnormality of the dentition	158326	FREM1	OMIM:608980
HP:0000164	Abnormality of the dentition	10060	ABCC9	OMIM:619719
HP:0000164	Abnormality of the dentition	5745	PTH1R	OMIM:600002
HP:0000164	Abnormality of the dentition	2316	FLNA	OMIM:311300
HP:0000164	Abnormality of the dentition	6452	SH3BP2	OMIM:118400
HP:0000164	Abnormality of the dentition	1009	CDH11	OMIM:211380
HP:0000164	Abnormality of the dentition	3239	HOXD13	OMIM:113300
HP:0000164	Abnormality of the dentition	4487	MSX1	ORPHA:199302
HP:0000164	Abnormality of the dentition	5818	NECTIN1	ORPHA:199302
HP:0000164	Abnormality of the dentition	8626	TP63	ORPHA:199302
HP:0000164	Abnormality of the dentition	3664	IRF6	ORPHA:199302
HP:0000164	Abnormality of the dentition	10084	PQBP1	OMIM:309500
HP:0000164	Abnormality of the dentition	23162	MAPK8IP3	OMIM:618443
HP:0000164	Abnormality of the dentition	157680	VPS13B	ORPHA:193
HP:0000164	Abnormality of the dentition	29123	ANKRD11	OMIM:148050
HP:0000164	Abnormality of the dentition	29123	ANKRD11	ORPHA:2332
HP:0000164	Abnormality of the dentition	57647	DHX37	OMIM:618731
HP:0000164	Abnormality of the dentition	672	BRCA1	OMIM:617883
HP:0000164	Abnormality of the dentition	8558	CDK10	OMIM:617694
HP:0000164	Abnormality of the dentition	738	VPS51	OMIM:618606
HP:0000164	Abnormality of the dentition	55777	MBD5	ORPHA:228402
HP:0000164	Abnormality of the dentition	4247	MGAT2	OMIM:212066
HP:0000164	Abnormality of the dentition	64093	SMOC1	ORPHA:1106
HP:0000164	Abnormality of the dentition	1277	COL1A1	ORPHA:287
HP:0000164	Abnormality of the dentition	1290	COL5A2	ORPHA:287
HP:0000164	Abnormality of the dentition	401138	AMTN	OMIM:617607
HP:0000164	Abnormality of the dentition	123041	SLC24A4	OMIM:615887
HP:0000164	Abnormality of the dentition	3643	INSR	OMIM:262190
HP:0000164	Abnormality of the dentition	3643	INSR	ORPHA:769
HP:0000164	Abnormality of the dentition	23394	ADNP	ORPHA:404448
HP:0000164	Abnormality of the dentition	23394	ADNP	OMIM:615873
HP:0000164	Abnormality of the dentition	6197	RPS6KA3	ORPHA:192
HP:0000164	Abnormality of the dentition	57688	ZSWIM6	OMIM:617865
HP:0000164	Abnormality of the dentition	4784	NFIX	OMIM:614753
HP:0000164	Abnormality of the dentition	23384	SPECC1L	ORPHA:1519
HP:0000164	Abnormality of the dentition	3868	KRT16	ORPHA:2309
HP:0000164	Abnormality of the dentition	3872	KRT17	ORPHA:2309
HP:0000164	Abnormality of the dentition	3853	KRT6A	ORPHA:2309
HP:0000164	Abnormality of the dentition	3854	KRT6B	ORPHA:2309
HP:0000164	Abnormality of the dentition	9361	LONP1	OMIM:600373
HP:0000164	Abnormality of the dentition	5339	PLEC	OMIM:226730
HP:0000164	Abnormality of the dentition	5339	PLEC	OMIM:226670
HP:0000164	Abnormality of the dentition	1161	ERCC8	ORPHA:90324
HP:0000164	Abnormality of the dentition	1161	ERCC8	ORPHA:90321
HP:0000164	Abnormality of the dentition	1161	ERCC8	ORPHA:90322
HP:0000164	Abnormality of the dentition	1161	ERCC8	OMIM:216400
HP:0000164	Abnormality of the dentition	2074	ERCC6	ORPHA:90324
HP:0000164	Abnormality of the dentition	2074	ERCC6	ORPHA:90321
HP:0000164	Abnormality of the dentition	2074	ERCC6	ORPHA:90322
HP:0000164	Abnormality of the dentition	81607	NECTIN4	OMIM:613573
HP:0000164	Abnormality of the dentition	4010	LMX1B	ORPHA:2614
HP:0000164	Abnormality of the dentition	2263	FGFR2	OMIM:149730
HP:0000164	Abnormality of the dentition	2263	FGFR2	ORPHA:2363
HP:0000164	Abnormality of the dentition	55746	NUP133	OMIM:618349
HP:0000164	Abnormality of the dentition	2778	GNAS	ORPHA:94089
HP:0000164	Abnormality of the dentition	2778	GNAS	OMIM:612463
HP:0000164	Abnormality of the dentition	2778	GNAS	OMIM:612462
HP:0000164	Abnormality of the dentition	2778	GNAS	ORPHA:79443
HP:0000164	Abnormality of the dentition	2778	GNAS	ORPHA:79444
HP:0000164	Abnormality of the dentition	2778	GNAS	OMIM:103580
HP:0000164	Abnormality of the dentition	8675	STX16	ORPHA:94089
HP:0000164	Abnormality of the dentition	2072	ERCC4	ORPHA:90321
HP:0000164	Abnormality of the dentition	2072	ERCC4	OMIM:610965
HP:0000164	Abnormality of the dentition	2067	ERCC1	ORPHA:90322
HP:0000164	Abnormality of the dentition	3655	ITGA6	ORPHA:79403
HP:0000164	Abnormality of the dentition	3909	LAMA3	ORPHA:79404
HP:0000164	Abnormality of the dentition	3909	LAMA3	OMIM:245660
HP:0000164	Abnormality of the dentition	3909	LAMA3	ORPHA:79402
HP:0000164	Abnormality of the dentition	3909	LAMA3	OMIM:226700
HP:0000164	Abnormality of the dentition	3918	LAMC2	ORPHA:79404
HP:0000164	Abnormality of the dentition	3918	LAMC2	ORPHA:79402
HP:0000164	Abnormality of the dentition	3918	LAMC2	OMIM:226700
HP:0000164	Abnormality of the dentition	3914	LAMB3	ORPHA:79404
HP:0000164	Abnormality of the dentition	3914	LAMB3	OMIM:104530
HP:0000164	Abnormality of the dentition	3914	LAMB3	ORPHA:79402
HP:0000164	Abnormality of the dentition	3914	LAMB3	OMIM:226650
HP:0000164	Abnormality of the dentition	3914	LAMB3	OMIM:226700
HP:0000164	Abnormality of the dentition	1308	COL17A1	ORPHA:79406
HP:0000164	Abnormality of the dentition	1308	COL17A1	ORPHA:79402
HP:0000164	Abnormality of the dentition	1308	COL17A1	ORPHA:251393
HP:0000164	Abnormality of the dentition	4312	MMP1	ORPHA:79408
HP:0000164	Abnormality of the dentition	4312	MMP1	OMIM:226600
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79408
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79409
HP:0000164	Abnormality of the dentition	1294	COL7A1	OMIM:226600
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79410
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79411
HP:0000164	Abnormality of the dentition	57511	COG6	ORPHA:363523
HP:0000164	Abnormality of the dentition	57511	COG6	OMIM:614576
HP:0000164	Abnormality of the dentition	57511	COG6	OMIM:615328
HP:0000164	Abnormality of the dentition	80055	PGAP1	OMIM:615802
HP:0000164	Abnormality of the dentition	152816	ODAPH	OMIM:614832
HP:0000164	Abnormality of the dentition	56975	FAM20C	OMIM:259775
HP:0000164	Abnormality of the dentition	6595	SMARCA2	OMIM:619293
HP:0000164	Abnormality of the dentition	79641	ROGDI	OMIM:226750
HP:0000164	Abnormality of the dentition	84068	SLC10A7	OMIM:618363
HP:0000164	Abnormality of the dentition	10265	IRX5	OMIM:611174
HP:0000164	Abnormality of the dentition	545	ATR	OMIM:614564
HP:0000164	Abnormality of the dentition	545	ATR	OMIM:210600
HP:0000164	Abnormality of the dentition	3117	HLA-DQA1	OMIM:212750
HP:0000164	Abnormality of the dentition	3119	HLA-DQB1	OMIM:212750
HP:0000164	Abnormality of the dentition	5189	PEX1	OMIM:234580
HP:0000164	Abnormality of the dentition	3759	KCNJ2	OMIM:170390
HP:0000164	Abnormality of the dentition	55764	IFT122	OMIM:218330
HP:0000164	Abnormality of the dentition	222663	SCUBE3	OMIM:619184
HP:0000164	Abnormality of the dentition	860	RUNX2	OMIM:119600
HP:0000164	Abnormality of the dentition	1594	CYP27B1	OMIM:264700
HP:0000164	Abnormality of the dentition	1594	CYP27B1	ORPHA:289157
HP:0000164	Abnormality of the dentition	7421	VDR	OMIM:277440
HP:0000164	Abnormality of the dentition	4591	TRIM37	OMIM:253250
HP:0000164	Abnormality of the dentition	6304	SATB1	OMIM:619229
HP:0000164	Abnormality of the dentition	5116	PCNT	OMIM:210720
HP:0000164	Abnormality of the dentition	2697	GJA1	OMIM:164200
HP:0000164	Abnormality of the dentition	64840	PORCN	OMIM:305600
HP:0000164	Abnormality of the dentition	9791	PTDSS1	OMIM:151050
HP:0000164	Abnormality of the dentition	57217	TTC7A	OMIM:243150
HP:0000164	Abnormality of the dentition	134218	DNAJC21	OMIM:617052
HP:0000164	Abnormality of the dentition	120227	CYP2R1	ORPHA:289157
HP:0000164	Abnormality of the dentition	80320	SP6	OMIM:620104
HP:0000164	Abnormality of the dentition	4952	OCRL	OMIM:309000
HP:0000164	Abnormality of the dentition	2255	FGF10	OMIM:620193
HP:0000164	Abnormality of the dentition	2255	FGF10	ORPHA:2363
HP:0000164	Abnormality of the dentition	2261	FGFR3	ORPHA:2363
HP:0000164	Abnormality of the dentition	22995	CEP152	OMIM:613823
HP:0000164	Abnormality of the dentition	9076	CLDN1	OMIM:607626
HP:0000164	Abnormality of the dentition	326	AIRE	OMIM:240300
HP:0000164	Abnormality of the dentition	79977	GRHL2	OMIM:616029
HP:0000164	Abnormality of the dentition	387	RHOA	OMIM:618727
HP:0000164	Abnormality of the dentition	2591	GALNT3	OMIM:211900
HP:0000164	Abnormality of the dentition	23219	FBXO28	OMIM:619777
HP:0000164	Abnormality of the dentition	1107	CHD3	OMIM:618205
HP:0000164	Abnormality of the dentition	404672	GTF2H5	ORPHA:33364
HP:0000164	Abnormality of the dentition	833	CARS1	ORPHA:33364
HP:0000164	Abnormality of the dentition	2068	ERCC2	ORPHA:33364
HP:0000164	Abnormality of the dentition	7737	RNF113A	ORPHA:33364
HP:0000164	Abnormality of the dentition	136647	MPLKIP	ORPHA:33364
HP:0000164	Abnormality of the dentition	6897	TARS1	ORPHA:33364
HP:0000164	Abnormality of the dentition	2071	ERCC3	ORPHA:33364
HP:0000164	Abnormality of the dentition	2961	GTF2E2	ORPHA:33364
HP:0000164	Abnormality of the dentition	1487	CTBP1	OMIM:617915
HP:0000164	Abnormality of the dentition	5286	PIK3C2A	ORPHA:557003
HP:0000164	Abnormality of the dentition	224	ALDH3A2	OMIM:270200
HP:0000164	Abnormality of the dentition	1513	CTSK	ORPHA:763
HP:0000164	Abnormality of the dentition	258	AMBN	OMIM:616270
HP:0000164	Abnormality of the dentition	3861	KRT14	ORPHA:69087
HP:0000164	Abnormality of the dentition	3861	KRT14	ORPHA:79396
HP:0000164	Abnormality of the dentition	5062	PAK2	OMIM:618458
HP:0000164	Abnormality of the dentition	3852	KRT5	ORPHA:79396
HP:0000164	Abnormality of the dentition	10844	TUBGCP2	OMIM:618737
HP:0000164	Abnormality of the dentition	3149	HMGB3	OMIM:300915
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:280200
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:220386
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93926
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93924
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93925
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:280200
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:220386
HP:0000164	Abnormality of the dentition	6496	SIX3	OMIM:157170
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93926
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93924
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93925
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:280200
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:220386
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93926
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93924
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93925
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:280200
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:220386
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93926
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93924
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93925
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:280200
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:220386
HP:0000164	Abnormality of the dentition	6469	SHH	OMIM:147250
HP:0000164	Abnormality of the dentition	6469	SHH	OMIM:142945
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93926
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93924
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93925
HP:0000164	Abnormality of the dentition	51684	SUFU	ORPHA:280200
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:280200
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:220386
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93926
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93924
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93925
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:280200
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:220386
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93926
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93924
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93925
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:280200
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:220386
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93926
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93924
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93925
HP:0000164	Abnormality of the dentition	2736	GLI2	ORPHA:280200
HP:0000164	Abnormality of the dentition	2736	GLI2	ORPHA:220386
HP:0000164	Abnormality of the dentition	2736	GLI2	OMIM:610829
HP:0000164	Abnormality of the dentition	2736	GLI2	ORPHA:93926
HP:0000164	Abnormality of the dentition	2736	GLI2	ORPHA:93924
HP:0000164	Abnormality of the dentition	2736	GLI2	ORPHA:93925
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:280200
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:220386
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93926
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93924
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93925
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:280200
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:220386
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93926
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93924
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93925
HP:0000164	Abnormality of the dentition	23019	CNOT1	ORPHA:556955
HP:0000164	Abnormality of the dentition	10735	STAG2	OMIM:301043
HP:0000164	Abnormality of the dentition	10735	STAG2	ORPHA:220386
HP:0000164	Abnormality of the dentition	10735	STAG2	ORPHA:93925
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:220386
HP:0000164	Abnormality of the dentition	6491	STIL	OMIM:612703
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93926
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93924
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93925
HP:0000164	Abnormality of the dentition	4087	SMAD2	OMIM:619657
HP:0000164	Abnormality of the dentition	4281	MID1	OMIM:300000
HP:0000164	Abnormality of the dentition	23007	PLCH1	ORPHA:93925
HP:0000164	Abnormality of the dentition	9896	FIG4	OMIM:216340
HP:0000164	Abnormality of the dentition	9896	FIG4	ORPHA:3472
HP:0000164	Abnormality of the dentition	1281	COL3A1	ORPHA:286
HP:0000164	Abnormality of the dentition	55697	VAC14	ORPHA:3472
HP:0000164	Abnormality of the dentition	55612	FERMT1	ORPHA:2908
HP:0000164	Abnormality of the dentition	5587	PRKD1	OMIM:617364
HP:0000164	Abnormality of the dentition	1476	CSTB	ORPHA:248
HP:0000164	Abnormality of the dentition	7189	TRAF6	ORPHA:1810
HP:0000164	Abnormality of the dentition	126695	KDF1	ORPHA:1810
HP:0000164	Abnormality of the dentition	10312	TCIRG1	ORPHA:667
HP:0000164	Abnormality of the dentition	1186	CLCN7	ORPHA:667
HP:0000164	Abnormality of the dentition	29887	SNX10	ORPHA:667
HP:0000164	Abnormality of the dentition	1075	CTSC	ORPHA:678
HP:0000164	Abnormality of the dentition	23102	TBC1D2B	ORPHA:397973
HP:0000164	Abnormality of the dentition	7703	PCGF2	OMIM:618371
HP:0000164	Abnormality of the dentition	3572	IL6ST	OMIM:619752
HP:0000164	Abnormality of the dentition	6424	SFRP4	OMIM:265900
HP:0000164	Abnormality of the dentition	7474	WNT5A	OMIM:180700
HP:0000164	Abnormality of the dentition	1855	DVL1	OMIM:180700
HP:0000164	Abnormality of the dentition	4000	LMNA	ORPHA:740
HP:0000164	Abnormality of the dentition	10269	ZMPSTE24	ORPHA:740
HP:0000164	Abnormality of the dentition	6774	STAT3	OMIM:147060
HP:0000164	Abnormality of the dentition	374654	KIF7	OMIM:200990
HP:0000164	Abnormality of the dentition	79813	EHMT1	OMIM:610253
HP:0000164	Abnormality of the dentition	10847	SRCAP	ORPHA:2044
HP:0000164	Abnormality of the dentition	51341	ZBTB7A	OMIM:619769
HP:0000164	Abnormality of the dentition	63901	FAM111A	ORPHA:93325
HP:0000164	Abnormality of the dentition	760	CA2	ORPHA:2785
HP:0000164	Abnormality of the dentition	3762	KCNJ5	ORPHA:37553
HP:0000164	Abnormality of the dentition	8600	TNFSF11	OMIM:259710
HP:0000164	Abnormality of the dentition	7994	KAT6A	OMIM:616268
HP:0000164	Abnormality of the dentition	4750	NEK1	ORPHA:2751
HP:0000164	Abnormality of the dentition	1739	DLG1	ORPHA:199306
HP:0000164	Abnormality of the dentition	652	BMP4	ORPHA:199306
HP:0000164	Abnormality of the dentition	999	CDH1	ORPHA:199306
HP:0000164	Abnormality of the dentition	5156	PDGFRA	ORPHA:199306
HP:0000164	Abnormality of the dentition	9411	ARHGAP29	ORPHA:199306
HP:0000164	Abnormality of the dentition	1748	DLX4	ORPHA:199306
HP:0000164	Abnormality of the dentition	2260	FGFR1	ORPHA:99798
HP:0000164	Abnormality of the dentition	128178	EDARADD	ORPHA:99798
HP:0000164	Abnormality of the dentition	7341	SUMO1	ORPHA:99798
HP:0000164	Abnormality of the dentition	80326	WNT10A	ORPHA:99798
HP:0000164	Abnormality of the dentition	80326	WNT10A	OMIM:150400
HP:0000164	Abnormality of the dentition	1896	EDA	ORPHA:99798
HP:0000164	Abnormality of the dentition	8313	AXIN2	ORPHA:99798
HP:0000164	Abnormality of the dentition	4040	LRP6	ORPHA:99798
HP:0000164	Abnormality of the dentition	7039	TGFA	ORPHA:99798
HP:0000164	Abnormality of the dentition	7480	WNT10B	ORPHA:99798
HP:0000164	Abnormality of the dentition	50485	SMARCAL1	ORPHA:1830
HP:0000164	Abnormality of the dentition	4810	NHS	OMIM:302350
HP:0000164	Abnormality of the dentition	6638	SNRPN	ORPHA:177907
HP:0000164	Abnormality of the dentition	54499	TMCO1	OMIM:213980
HP:0000164	Abnormality of the dentition	9401	RECQL4	OMIM:268400
HP:0000164	Abnormality of the dentition	284252	KCTD1	OMIM:181270
HP:0000164	Abnormality of the dentition	197131	UBR1	OMIM:243800
HP:0000164	Abnormality of the dentition	716	C1S	ORPHA:75392
HP:0000164	Abnormality of the dentition	715	C1R	ORPHA:75392
HP:0000164	Abnormality of the dentition	1387	CREBBP	OMIM:618332
HP:0000164	Abnormality of the dentition	51715	RAB23	OMIM:201000
HP:0000164	Abnormality of the dentition	1857	DVL3	OMIM:616894
HP:0000164	Abnormality of the dentition	5888	RAD51	OMIM:617244
HP:0000164	Abnormality of the dentition	54101	RIPK4	ORPHA:1401
HP:0000164	Abnormality of the dentition	23314	SATB2	ORPHA:251028
HP:0000164	Abnormality of the dentition	8481	OFD1	OMIM:311200
HP:0000164	Abnormality of the dentition	23184	MESD	OMIM:618644
HP:0000164	Abnormality of the dentition	2783	GNB2	OMIM:619503
HP:0000164	Abnormality of the dentition	64094	SMOC2	OMIM:125400
HP:0000164	Abnormality of the dentition	23347	SMCHD1	ORPHA:2250
HP:0000164	Abnormality of the dentition	2317	FLNB	OMIM:272460
HP:0000164	Abnormality of the dentition	6925	TCF4	ORPHA:2896
HP:0000164	Abnormality of the dentition	6885	MAP3K7	ORPHA:3238
HP:0000164	Abnormality of the dentition	64135	IFIH1	OMIM:182250
HP:0000164	Abnormality of the dentition	9775	EIF4A3	OMIM:268305
HP:0000164	Abnormality of the dentition	249	ALPL	OMIM:146300
HP:0000164	Abnormality of the dentition	3691	ITGB4	OMIM:619816
HP:0000164	Abnormality of the dentition	847	CAT	ORPHA:926
HP:0000164	Abnormality of the dentition	284654	RSPO1	OMIM:610644
HP:0000164	Abnormality of the dentition	1991	ELANE	ORPHA:2686
HP:0000164	Abnormality of the dentition	4038	LRP4	OMIM:212780
HP:0000164	Abnormality of the dentition	2248	FGF3	ORPHA:2791
HP:0000164	Abnormality of the dentition	4763	NF1	ORPHA:363700
HP:0000164	Abnormality of the dentition	1593	CYP27A1	ORPHA:909
HP:0000164	Abnormality of the dentition	2672	GFI1	ORPHA:486
HP:0000164	Abnormality of the dentition	81570	CLPB	ORPHA:486
HP:0000164	Abnormality of the dentition	23328	SASH1	OMIM:618373
HP:0000164	Abnormality of the dentition	11285	B4GALT7	ORPHA:75496
HP:0000164	Abnormality of the dentition	118429	ANTXR2	ORPHA:2176
HP:0000164	Abnormality of the dentition	112802	KRT71	OMIM:615896
HP:0000164	Abnormality of the dentition	7700	ZNF141	OMIM:615226
HP:0000164	Abnormality of the dentition	7021	TFAP2B	ORPHA:46627
HP:0000164	Abnormality of the dentition	64324	NSD1	ORPHA:821
HP:0000164	Abnormality of the dentition	29072	SETD2	ORPHA:821
HP:0000164	Abnormality of the dentition	10297	APC2	ORPHA:821
HP:0000164	Abnormality of the dentition	265	AMELX	OMIM:301200
HP:0000164	Abnormality of the dentition	3694	ITGB6	OMIM:616221
HP:0000164	Abnormality of the dentition	84957	RELT	OMIM:618386
HP:0000164	Abnormality of the dentition	650	BMP2	OMIM:617877
HP:0000164	Abnormality of the dentition	1834	DSPP	OMIM:125500
HP:0000164	Abnormality of the dentition	8111	GPR68	OMIM:617217
HP:0000164	Abnormality of the dentition	10117	ENAM	OMIM:204650
HP:0000164	Abnormality of the dentition	286077	FAM83H	OMIM:130900
HP:0000164	Abnormality of the dentition	9622	KLK4	OMIM:204700
HP:0000164	Abnormality of the dentition	526	ATP6V1B2	ORPHA:3473
HP:0000164	Abnormality of the dentition	3756	KCNH1	ORPHA:3473
HP:0000164	Abnormality of the dentition	3782	KCNN3	ORPHA:3473
HP:0000164	Abnormality of the dentition	2773	GNAI3	OMIM:602483
HP:0000164	Abnormality of the dentition	9313	MMP20	OMIM:612529
HP:0000164	Abnormality of the dentition	7248	TSC1	OMIM:191100
HP:0000164	Abnormality of the dentition	1298	COL9A2	OMIM:600204
HP:0000164	Abnormality of the dentition	5980	REV3L	ORPHA:570
HP:0000164	Abnormality of the dentition	23129	PLXND1	ORPHA:570
HP:0000164	Abnormality of the dentition	1804	DPP6	ORPHA:2514
HP:0000164	Abnormality of the dentition	4001	LMNB1	ORPHA:2514
HP:0000164	Abnormality of the dentition	90993	CREB3L1	OMIM:616229
HP:0000164	Abnormality of the dentition	10371	SEMA3A	ORPHA:478
HP:0000164	Abnormality of the dentition	23767	FLRT3	ORPHA:478
HP:0000164	Abnormality of the dentition	79625	NDNF	ORPHA:478
HP:0000164	Abnormality of the dentition	389549	FEZF1	ORPHA:478
HP:0000164	Abnormality of the dentition	1630	DCC	ORPHA:478
HP:0000164	Abnormality of the dentition	3730	ANOS1	ORPHA:478
HP:0000164	Abnormality of the dentition	6663	SOX10	ORPHA:478
HP:0000164	Abnormality of the dentition	285025	CCDC141	ORPHA:478
HP:0000164	Abnormality of the dentition	8820	HESX1	ORPHA:478
HP:0000164	Abnormality of the dentition	5727	PTCH1	ORPHA:77301
HP:0000164	Abnormality of the dentition	5727	PTCH1	OMIM:109400
HP:0000164	Abnormality of the dentition	7291	TWIST1	ORPHA:794
HP:0000164	Abnormality of the dentition	3187	HNRNPH1	OMIM:620083
HP:0000164	Abnormality of the dentition	55084	SOBP	OMIM:613671
HP:0000164	Abnormality of the dentition	3190	HNRNPK	ORPHA:352665
HP:0000164	Abnormality of the dentition	3190	HNRNPK	ORPHA:453504
HP:0000164	Abnormality of the dentition	8450	CUL4B	ORPHA:85293
HP:0000164	Abnormality of the dentition	145173	B3GLCT	OMIM:261540
HP:0000164	Abnormality of the dentition	22827	PUF60	ORPHA:508488
HP:0000164	Abnormality of the dentition	5457	POU4F1	ORPHA:314647
HP:0000164	Abnormality of the dentition	23261	CAMTA1	ORPHA:314647
HP:0000164	Abnormality of the dentition	3590	IL11RA	OMIM:614188
HP:0000164	Abnormality of the dentition	1859	DYRK1A	ORPHA:268261
HP:0000164	Abnormality of the dentition	26005	C2CD3	ORPHA:434179
HP:0000164	Abnormality of the dentition	26005	C2CD3	OMIM:615948
HP:0000164	Abnormality of the dentition	2535	FZD2	ORPHA:3107
HP:0000164	Abnormality of the dentition	9508	ADAMTS3	ORPHA:2136
HP:0000164	Abnormality of the dentition	147372	CCBE1	ORPHA:2136
HP:0000164	Abnormality of the dentition	79633	FAT4	ORPHA:2136
HP:0000164	Abnormality of the dentition	6228	RPS23	OMIM:617412
HP:0000164	Abnormality of the dentition	324	APC	OMIM:175100
HP:0000164	Abnormality of the dentition	324	APC	ORPHA:247806
HP:0000164	Abnormality of the dentition	324	APC	ORPHA:79665
HP:0000164	Abnormality of the dentition	2131	EXT1	ORPHA:502
HP:0000164	Abnormality of the dentition	7227	TRPS1	ORPHA:502
HP:0000164	Abnormality of the dentition	7227	TRPS1	OMIM:190351
HP:0000164	Abnormality of the dentition	7227	TRPS1	ORPHA:77258
HP:0000164	Abnormality of the dentition	23630	KCNE5	ORPHA:86818
HP:0000164	Abnormality of the dentition	2182	ACSL4	ORPHA:86818
HP:0000164	Abnormality of the dentition	9949	AMMECR1	ORPHA:86818
HP:0000164	Abnormality of the dentition	1717	DHCR7	ORPHA:818
HP:0000164	Abnormality of the dentition	4488	MSX2	OMIM:604757
HP:0000164	Abnormality of the dentition	64359	NXN	ORPHA:1507
HP:0000164	Abnormality of the dentition	3339	HSPG2	ORPHA:800
HP:0000164	Abnormality of the dentition	51626	DYNC2LI1	OMIM:617088
HP:0000164	Abnormality of the dentition	9487	PIGL	ORPHA:3474
HP:0000164	Abnormality of the dentition	865	CBFB	OMIM:620099
HP:0000164	Abnormality of the dentition	7840	ALMS1	ORPHA:64
HP:0000164	Abnormality of the dentition	7399	USH2A	ORPHA:231178
HP:0000164	Abnormality of the dentition	79955	PDZD7	ORPHA:231178
HP:0000164	Abnormality of the dentition	4647	MYO7A	ORPHA:231178
HP:0000164	Abnormality of the dentition	25861	WHRN	ORPHA:231178
HP:0000164	Abnormality of the dentition	84059	ADGRV1	ORPHA:231178
HP:0000164	Abnormality of the dentition	26504	CNNM4	ORPHA:1873
HP:0000164	Abnormality of the dentition	284111	SLC13A5	ORPHA:1946
HP:0000164	Abnormality of the dentition	3845	KRAS	OMIM:163200
HP:0000164	Abnormality of the dentition	4893	NRAS	OMIM:163200
HP:0000164	Abnormality of the dentition	3265	HRAS	OMIM:163200
HP:0000164	Abnormality of the dentition	23028	KDM1A	ORPHA:477993
HP:0000164	Abnormality of the dentition	51305	KCNK9	ORPHA:166108
HP:0000164	Abnormality of the dentition	5813	PURA	ORPHA:438216
HP:0000164	Abnormality of the dentition	10664	CTCF	OMIM:615502
HP:0000164	Abnormality of the dentition	6768	ST14	OMIM:602400
HP:0000164	Abnormality of the dentition	256764	WDR72	OMIM:613211
HP:0000164	Abnormality of the dentition	9968	MED12	ORPHA:93932
HP:0000164	Abnormality of the dentition	57539	WDR35	OMIM:614091
HP:0000164	Abnormality of the dentition	57539	WDR35	OMIM:613610
HP:0000164	Abnormality of the dentition	7355	SLC35A2	OMIM:300896
HP:0000164	Abnormality of the dentition	2887	GRB10	ORPHA:96182
HP:0000164	Abnormality of the dentition	23111	SPART	ORPHA:101000
HP:0000164	Abnormality of the dentition	57589	RIC1	OMIM:618761
HP:0000164	Abnormality of the dentition	93650	ACP4	OMIM:617297
HP:0000164	Abnormality of the dentition	101929726	MYMX	OMIM:619941
HP:0000164	Abnormality of the dentition	2138	EYA1	OMIM:113650
HP:0000164	Abnormality of the dentition	6495	SIX1	OMIM:113650
HP:0000164	Abnormality of the dentition	2033	EP300	OMIM:613684
HP:0000164	Abnormality of the dentition	57479	PRR12	OMIM:619539
HP:0000164	Abnormality of the dentition	3097	HIVEP2	OMIM:616977
HP:0000164	Abnormality of the dentition	91801	ALKBH8	OMIM:618504
HP:0000164	Abnormality of the dentition	54517	PUS7	OMIM:618342
HP:0000164	Abnormality of the dentition	5083	PAX9	OMIM:604625
HP:0000164	Abnormality of the dentition	1802	DPH2	OMIM:620062
HP:0000164	Abnormality of the dentition	83479	DDX59	ORPHA:2919
HP:0000164	Abnormality of the dentition	8792	TNFRSF11A	OMIM:174810
HP:0000164	Abnormality of the dentition	7390	UROS	OMIM:263700
HP:0000164	Abnormality of the dentition	7390	UROS	ORPHA:79277
HP:0000164	Abnormality of the dentition	2623	GATA1	ORPHA:79277
HP:0000164	Abnormality of the dentition	7389	UROD	ORPHA:95159
HP:0000164	Abnormality of the dentition	4914	NTRK1	ORPHA:642
HP:0000164	Abnormality of the dentition	5251	PHEX	ORPHA:89936
HP:0000164	Abnormality of the dentition	8074	FGF23	ORPHA:89937
HP:0000164	Abnormality of the dentition	1758	DMP1	ORPHA:289176
HP:0000164	Abnormality of the dentition	5167	ENPP1	ORPHA:289176
HP:0000164	Abnormality of the dentition	1747	DLX3	ORPHA:3352
HP:0000164	Abnormality of the dentition	54880	BCOR	OMIM:300166
HP:0000164	Abnormality of the dentition	150468	CKAP2L	OMIM:272440
HP:0000164	Abnormality of the dentition	64802	NMNAT1	OMIM:619260
HP:0000164	Abnormality of the dentition	54453	RIN2	ORPHA:217335
HP:0000164	Abnormality of the dentition	54453	RIN2	OMIM:613075
HP:0000164	Abnormality of the dentition	6662	SOX9	OMIM:114290
HP:0000164	Abnormality of the dentition	85440	DOCK7	ORPHA:411986
HP:0000164	Abnormality of the dentition	9509	ADAMTS2	OMIM:225410
HP:0000164	Abnormality of the dentition	23545	ATP6V0A2	ORPHA:2834
HP:0006298	Prolonged bleeding after dental extraction	2165	F13B	ORPHA:331
HP:0006298	Prolonged bleeding after dental extraction	2162	F13A1	ORPHA:331
HP:0006298	Prolonged bleeding after dental extraction	5054	SERPINE1	ORPHA:465
HP:0006298	Prolonged bleeding after dental extraction	2157	F8	ORPHA:177926
HP:0006298	Prolonged bleeding after dental extraction	2157	F8	ORPHA:169805
HP:0006298	Prolonged bleeding after dental extraction	2811	GP1BA	OMIM:153670
HP:0006298	Prolonged bleeding after dental extraction	2811	GP1BA	ORPHA:274
HP:0006298	Prolonged bleeding after dental extraction	2811	GP1BA	OMIM:231200
HP:0006298	Prolonged bleeding after dental extraction	2812	GP1BB	ORPHA:274
HP:0006298	Prolonged bleeding after dental extraction	2812	GP1BB	OMIM:231200
HP:0006298	Prolonged bleeding after dental extraction	2815	GP9	ORPHA:274
HP:0006298	Prolonged bleeding after dental extraction	2815	GP9	OMIM:231200
HP:0006298	Prolonged bleeding after dental extraction	2243	FGA	OMIM:202400
HP:0006298	Prolonged bleeding after dental extraction	2244	FGB	OMIM:202400
HP:0006298	Prolonged bleeding after dental extraction	2266	FGG	OMIM:202400
HP:0006298	Prolonged bleeding after dental extraction	3690	ITGB3	OMIM:619267
HP:0006298	Prolonged bleeding after dental extraction	7450	VWF	OMIM:193400
HP:0006298	Prolonged bleeding after dental extraction	2155	F7	OMIM:227500
HP:0006298	Prolonged bleeding after dental extraction	3998	LMAN1	ORPHA:35909
HP:0006298	Prolonged bleeding after dental extraction	90411	MCFD2	ORPHA:35909
HP:0006298	Prolonged bleeding after dental extraction	84062	DTNBP1	OMIM:614076
HP:0006298	Prolonged bleeding after dental extraction	10235	RASGRP2	OMIM:615888
HP:0006298	Prolonged bleeding after dental extraction	2160	F11	ORPHA:329
HP:0006298	Prolonged bleeding after dental extraction	2159	F10	ORPHA:328
HP:0006298	Prolonged bleeding after dental extraction	2147	F2	ORPHA:325
HP:0006298	Prolonged bleeding after dental extraction	2153	F5	ORPHA:326
HP:0032141	Precordial pain	57104	PNPLA2	ORPHA:565612
HP:0032141	Precordial pain	1288	COL4A6	ORPHA:1018
HP:0032141	Precordial pain	1287	COL4A5	ORPHA:1018
HP:0032147	Erythromelalgia	6335	SCN9A	OMIM:133020
HP:0032148	Episodic pain	87178	PNPT1	ORPHA:101111
HP:0032148	Episodic pain	79577	CDC73	ORPHA:99880
HP:0032148	Episodic pain	79577	CDC73	ORPHA:143
HP:0032148	Episodic pain	7428	VHL	ORPHA:29072
HP:0032148	Episodic pain	7428	VHL	ORPHA:276621
HP:0032148	Episodic pain	1743	DLST	ORPHA:29072
HP:0032148	Episodic pain	4191	MDH2	ORPHA:29072
HP:0032148	Episodic pain	5979	RET	ORPHA:29072
HP:0032148	Episodic pain	5979	RET	ORPHA:276621
HP:0032148	Episodic pain	6389	SDHA	ORPHA:29072
HP:0032148	Episodic pain	23095	KIF1B	ORPHA:29072
HP:0032148	Episodic pain	2271	FH	ORPHA:29072
HP:0032148	Episodic pain	8402	SLC25A11	ORPHA:29072
HP:0032148	Episodic pain	54949	SDHAF2	ORPHA:29072
HP:0032148	Episodic pain	55654	TMEM127	ORPHA:29072
HP:0032148	Episodic pain	4763	NF1	ORPHA:29072
HP:0032148	Episodic pain	6391	SDHC	ORPHA:29072
HP:0032148	Episodic pain	6392	SDHD	ORPHA:29072
HP:0032148	Episodic pain	6392	SDHD	ORPHA:276621
HP:0032148	Episodic pain	6392	SDHD	ORPHA:100093
HP:0032148	Episodic pain	6390	SDHB	ORPHA:29072
HP:0032148	Episodic pain	6390	SDHB	ORPHA:276621
HP:0032148	Episodic pain	4149	MAX	ORPHA:29072
HP:0032148	Episodic pain	1788	DNMT3A	ORPHA:276621
HP:0032148	Episodic pain	2034	EPAS1	ORPHA:276621
HP:0032148	Episodic pain	10020	GNE	ORPHA:3166
HP:0032148	Episodic pain	1376	CPT2	ORPHA:228305
HP:0032148	Episodic pain	4023	LPL	OMIM:238600
HP:0032148	Episodic pain	5277	PIGA	ORPHA:447
HP:0032148	Episodic pain	2099	ESR1	ORPHA:785
HP:0032148	Episodic pain	56246	MRAP	ORPHA:361
HP:0032148	Episodic pain	6770	STAR	ORPHA:361
HP:0032148	Episodic pain	4158	MC2R	ORPHA:361
HP:0032148	Episodic pain	23530	NNT	ORPHA:361
HP:0032148	Episodic pain	10587	TXNRD2	ORPHA:361
HP:0032148	Episodic pain	1616	DAXX	ORPHA:100075
HP:0032148	Episodic pain	546	ATRX	ORPHA:100075
HP:0032148	Episodic pain	4210	MEFV	OMIM:249100
HP:0032148	Episodic pain	3074	HEXB	OMIM:268800
HP:0032148	Episodic pain	2065	ERBB3	OMIM:243180
HP:0032148	Episodic pain	1027	CDKN1B	ORPHA:276152
HP:0032148	Episodic pain	2313	FLI1	ORPHA:370348
HP:0032148	Episodic pain	2161	F12	OMIM:610618
HP:0032148	Episodic pain	23592	LEMD3	ORPHA:166119
HP:0032148	Episodic pain	7045	TGFBI	ORPHA:98960
HP:0032148	Episodic pain	8989	TRPA1	OMIM:615040
HP:0032152	Keratosis pilaris	4953	ODC1	OMIM:619075
HP:0032152	Keratosis pilaris	4953	ODC1	ORPHA:544488
HP:0032152	Keratosis pilaris	8036	SHOC2	OMIM:607721
HP:0032152	Keratosis pilaris	3887	KRT81	OMIM:158000
HP:0032152	Keratosis pilaris	3889	KRT83	OMIM:158000
HP:0032152	Keratosis pilaris	3892	KRT86	OMIM:158000
HP:0032152	Keratosis pilaris	8216	LZTR1	OMIM:616564
HP:0032152	Keratosis pilaris	4141	MARS1	OMIM:619692
HP:0032152	Keratosis pilaris	22861	NLRP1	OMIM:618803
HP:0032152	Keratosis pilaris	22861	NLRP1	OMIM:615225
HP:0032152	Keratosis pilaris	126695	KDF1	OMIM:617337
HP:0032152	Keratosis pilaris	79092	CARD14	OMIM:173200
HP:0032152	Keratosis pilaris	5604	MAP2K1	OMIM:615279
HP:0032152	Keratosis pilaris	4035	LRP1	OMIM:604093
HP:0032152	Keratosis pilaris	121391	KRT74	OMIM:194300
HP:0032152	Keratosis pilaris	673	BRAF	OMIM:115150
HP:0032152	Keratosis pilaris	5894	RAF1	OMIM:611553
HP:0032152	Keratosis pilaris	79755	ZNF750	OMIM:610227
HP:0032152	Keratosis pilaris	80326	WNT10A	OMIM:257980
HP:0032152	Keratosis pilaris	2312	FLG	OMIM:146700
HP:0032152	Keratosis pilaris	2697	GJA1	OMIM:104100
HP:0032152	Keratosis pilaris	2697	GJA1	ORPHA:1010
HP:0032152	Keratosis pilaris	6720	SREBF1	OMIM:158310
HP:0032152	Keratosis pilaris	1303	COL12A1	ORPHA:536516
HP:0032152	Keratosis pilaris	1303	COL12A1	ORPHA:610
HP:0032152	Keratosis pilaris	283209	PGM2L1	OMIM:620191
HP:0032152	Keratosis pilaris	51360	MBTPS2	OMIM:308800
HP:0032152	Keratosis pilaris	5605	MAP2K2	OMIM:615280
HP:0032152	Keratosis pilaris	3868	KRT16	OMIM:613000
HP:0032152	Keratosis pilaris	341208	HEPHL1	OMIM:261990
HP:0032152	Keratosis pilaris	4893	NRAS	OMIM:613224
HP:0032152	Keratosis pilaris	2783	GNB2	OMIM:619503
HP:0032152	Keratosis pilaris	6655	SOS2	OMIM:616559
HP:0032152	Keratosis pilaris	6654	SOS1	OMIM:610733
HP:0032152	Keratosis pilaris	1291	COL6A1	ORPHA:610
HP:0032152	Keratosis pilaris	1292	COL6A2	ORPHA:610
HP:0032152	Keratosis pilaris	1293	COL6A3	ORPHA:610
HP:0032153	Joint subluxation	3187	HNRNPH1	OMIM:620083
HP:0032153	Joint subluxation	2737	GLI3	ORPHA:672
HP:0032153	Joint subluxation	2737	GLI3	OMIM:146510
HP:0032153	Joint subluxation	3835	KIF22	ORPHA:93360
HP:0032153	Joint subluxation	54928	BPNT2	OMIM:614078
HP:0032153	Joint subluxation	55636	CHD7	OMIM:214800
HP:0032153	Joint subluxation	64131	XYLT1	OMIM:615777
HP:0032153	Joint subluxation	8642	DCHS1	OMIM:601390
HP:0032153	Joint subluxation	126792	B3GALT6	OMIM:271640
HP:0032153	Joint subluxation	2720	GLB1	OMIM:253010
HP:0032153	Joint subluxation	2588	GALNS	OMIM:253000
HP:0032153	Joint subluxation	6023	RMRP	OMIM:607095
HP:0032153	Joint subluxation	4921	DDR2	OMIM:271665
HP:0032153	Joint subluxation	3425	IDUA	OMIM:607014
HP:0032153	Joint subluxation	8567	MADD	OMIM:619004
HP:0032153	Joint subluxation	1280	COL2A1	OMIM:184250
HP:0032153	Joint subluxation	415	ARSL	ORPHA:79345
HP:0032153	Joint subluxation	4313	MMP2	OMIM:259600
HP:0032153	Joint subluxation	22827	PUF60	ORPHA:508498
HP:0032153	Joint subluxation	9509	ADAMTS2	OMIM:225410
HP:0032153	Joint subluxation	2317	FLNB	OMIM:272460
HP:0032153	Joint subluxation	1278	COL1A2	OMIM:617821
HP:0032153	Joint subluxation	64135	IFIH1	OMIM:182250
HP:0032153	Joint subluxation	7148	TNXB	OMIM:606408
HP:0032153	Joint subluxation	4052	LTBP1	ORPHA:90349
HP:0032153	Joint subluxation	30008	EFEMP2	ORPHA:90349
HP:0032153	Joint subluxation	10516	FBLN5	ORPHA:90349
HP:0032153	Joint subluxation	1277	COL1A1	OMIM:130060
HP:0032153	Joint subluxation	1289	COL5A1	OMIM:619329
HP:0032153	Joint subluxation	5351	PLOD1	ORPHA:1900
HP:0032153	Joint subluxation	23586	RIGI	OMIM:616298
HP:0032154	Aphthous ulcer	355	FAS	ORPHA:3261
HP:0032154	Aphthous ulcer	355	FAS	ORPHA:117
HP:0032154	Aphthous ulcer	356	FASLG	ORPHA:3261
HP:0032154	Aphthous ulcer	5580	PRKCD	ORPHA:3261
HP:0032154	Aphthous ulcer	843	CASP10	ORPHA:3261
HP:0032154	Aphthous ulcer	10125	RASGRP1	ORPHA:3261
HP:0032154	Aphthous ulcer	64421	DCLRE1C	ORPHA:275
HP:0032154	Aphthous ulcer	1053	CEBPE	OMIM:260570
HP:0032154	Aphthous ulcer	54941	RNF125	OMIM:616260
HP:0032154	Aphthous ulcer	54453	RIN2	OMIM:613075
HP:0032154	Aphthous ulcer	84876	ORAI1	OMIM:612782
HP:0032154	Aphthous ulcer	6097	RORC	OMIM:616622
HP:0032154	Aphthous ulcer	84818	IL17RC	OMIM:616445
HP:0032154	Aphthous ulcer	3117	HLA-DQA1	OMIM:212750
HP:0032154	Aphthous ulcer	3119	HLA-DQB1	OMIM:212750
HP:0032154	Aphthous ulcer	51311	TLR8	OMIM:301078
HP:0032154	Aphthous ulcer	4598	MVK	ORPHA:343
HP:0032154	Aphthous ulcer	10312	TCIRG1	ORPHA:486
HP:0032154	Aphthous ulcer	1991	ELANE	ORPHA:486
HP:0032154	Aphthous ulcer	2672	GFI1	ORPHA:486
HP:0032154	Aphthous ulcer	6729	SRP54	ORPHA:486
HP:0032154	Aphthous ulcer	81570	CLPB	ORPHA:486
HP:0032154	Aphthous ulcer	3106	HLA-B	ORPHA:29207
HP:0032154	Aphthous ulcer	3106	HLA-B	ORPHA:117
HP:0032154	Aphthous ulcer	9948	WDR1	OMIM:150550
HP:0032154	Aphthous ulcer	146206	CARMIL2	OMIM:618131
HP:0032154	Aphthous ulcer	10525	HYOU1	OMIM:233600
HP:0032154	Aphthous ulcer	10892	MALT1	OMIM:615468
HP:0032154	Aphthous ulcer	4689	NCF4	OMIM:613960
HP:0032154	Aphthous ulcer	148022	TICAM1	OMIM:614850
HP:0032154	Aphthous ulcer	5591	PRKDC	OMIM:615966
HP:0032154	Aphthous ulcer	91662	NLRP12	OMIM:611762
HP:0032154	Aphthous ulcer	149233	IL23R	ORPHA:117
HP:0032154	Aphthous ulcer	6775	STAT4	ORPHA:117
HP:0032154	Aphthous ulcer	3586	IL10	ORPHA:117
HP:0032154	Aphthous ulcer	1230	CCR1	ORPHA:117
HP:0032154	Aphthous ulcer	3592	IL12A	ORPHA:117
HP:0032154	Aphthous ulcer	101928376	IL12A-AS1	ORPHA:117
HP:0032154	Aphthous ulcer	7099	TLR4	ORPHA:117
HP:0032154	Aphthous ulcer	3459	IFNGR1	ORPHA:117
HP:0032154	Aphthous ulcer	720	C4A	ORPHA:117
HP:0032154	Aphthous ulcer	337867	UBAC2	ORPHA:117
HP:0032154	Aphthous ulcer	51752	ERAP1	ORPHA:117
HP:0032154	Aphthous ulcer	8302	KLRC4	ORPHA:117
HP:0032154	Aphthous ulcer	51816	ADA2	OMIM:615688
HP:0032154	Aphthous ulcer	59067	IL21	OMIM:615767
HP:0032154	Aphthous ulcer	54440	SASH3	OMIM:301082
HP:0032154	Aphthous ulcer	4210	MEFV	OMIM:249100
HP:0032154	Aphthous ulcer	64127	NOD2	OMIM:266600
HP:0032154	Aphthous ulcer	3569	IL6	OMIM:266600
HP:0032154	Aphthous ulcer	114548	NLRP3	OMIM:120100
HP:0032155	Abdominal cramps	171023	ASXL1	ORPHA:98850
HP:0032155	Abdominal cramps	54790	TET2	ORPHA:98850
HP:0032155	Abdominal cramps	867	CBL	ORPHA:98850
HP:0032155	Abdominal cramps	861	RUNX1	ORPHA:98850
HP:0032155	Abdominal cramps	6427	SRSF2	ORPHA:98850
HP:0032155	Abdominal cramps	1890	TYMP	OMIM:603041
HP:0032155	Abdominal cramps	5428	POLG	OMIM:603041
HP:0032156	Skin detachment	1308	COL17A1	ORPHA:251393
HP:0032156	Skin detachment	3691	ITGB4	ORPHA:251393
HP:0032158	Unusual infection by anatomical site	26191	PTPN22	ORPHA:397
HP:0032158	Unusual infection by anatomical site	26191	PTPN22	ORPHA:900
HP:0032158	Unusual infection by anatomical site	3106	HLA-B	ORPHA:397
HP:0032158	Unusual infection by anatomical site	3106	HLA-B	ORPHA:117
HP:0032158	Unusual infection by anatomical site	3123	HLA-DRB1	ORPHA:397
HP:0032158	Unusual infection by anatomical site	3123	HLA-DRB1	ORPHA:545
HP:0032158	Unusual infection by anatomical site	8974	P4HA2	ORPHA:397
HP:0032158	Unusual infection by anatomical site	64170	CARD9	OMIM:212050
HP:0032158	Unusual infection by anatomical site	695	BTK	OMIM:300755
HP:0032158	Unusual infection by anatomical site	695	BTK	ORPHA:47
HP:0032158	Unusual infection by anatomical site	695	BTK	OMIM:307200
HP:0032158	Unusual infection by anatomical site	54820	NDE1	ORPHA:2177
HP:0032158	Unusual infection by anatomical site	7454	WAS	ORPHA:906
HP:0032158	Unusual infection by anatomical site	7456	WIPF1	ORPHA:906
HP:0032158	Unusual infection by anatomical site	1493	CTLA4	ORPHA:900
HP:0032158	Unusual infection by anatomical site	3115	HLA-DPB1	ORPHA:900
HP:0032158	Unusual infection by anatomical site	5657	PRTN3	ORPHA:900
HP:0032158	Unusual infection by anatomical site	3113	HLA-DPA1	ORPHA:900
HP:0032158	Unusual infection by anatomical site	1776	DNASE1L3	ORPHA:36412
HP:0032158	Unusual infection by anatomical site	596	BCL2	ORPHA:545
HP:0032158	Unusual infection by anatomical site	3492	IGH	ORPHA:545
HP:0032158	Unusual infection by anatomical site	604	BCL6	ORPHA:545
HP:0032158	Unusual infection by anatomical site	959	CD40LG	OMIM:308230
HP:0032158	Unusual infection by anatomical site	4210	MEFV	ORPHA:342
HP:0032158	Unusual infection by anatomical site	4210	MEFV	OMIM:249100
HP:0032158	Unusual infection by anatomical site	4210	MEFV	ORPHA:117
HP:0032158	Unusual infection by anatomical site	5551	PRF1	OMIM:603553
HP:0032158	Unusual infection by anatomical site	5896	RAG1	OMIM:601457
HP:0032158	Unusual infection by anatomical site	5897	RAG2	OMIM:601457
HP:0032158	Unusual infection by anatomical site	58484	NLRC4	OMIM:616050
HP:0032158	Unusual infection by anatomical site	3718	JAK3	OMIM:600802
HP:0032158	Unusual infection by anatomical site	629	CFB	OMIM:615561
HP:0032158	Unusual infection by anatomical site	3543	IGLL1	OMIM:613500
HP:0032158	Unusual infection by anatomical site	3543	IGLL1	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	732	C8B	OMIM:613789
HP:0032158	Unusual infection by anatomical site	29110	TBK1	OMIM:617900
HP:0032158	Unusual infection by anatomical site	114548	NLRP3	OMIM:607115
HP:0032158	Unusual infection by anatomical site	114548	NLRP3	ORPHA:1451
HP:0032158	Unusual infection by anatomical site	1536	CYBB	ORPHA:379
HP:0032158	Unusual infection by anatomical site	4688	NCF2	ORPHA:379
HP:0032158	Unusual infection by anatomical site	1535	CYBA	ORPHA:379
HP:0032158	Unusual infection by anatomical site	4689	NCF4	ORPHA:379
HP:0032158	Unusual infection by anatomical site	653361	NCF1	ORPHA:379
HP:0032158	Unusual infection by anatomical site	79415	CYBC1	ORPHA:379
HP:0032158	Unusual infection by anatomical site	331	XIAP	OMIM:308240
HP:0032158	Unusual infection by anatomical site	4068	SH2D1A	OMIM:308240
HP:0032158	Unusual infection by anatomical site	2215	FCGR3B	ORPHA:464370
HP:0032158	Unusual infection by anatomical site	23495	TNFRSF13B	OMIM:240500
HP:0032158	Unusual infection by anatomical site	115650	TNFRSF13C	OMIM:240500
HP:0032158	Unusual infection by anatomical site	1380	CR2	OMIM:240500
HP:0032158	Unusual infection by anatomical site	29851	ICOS	OMIM:240500
HP:0032158	Unusual infection by anatomical site	930	CD19	OMIM:240500
HP:0032158	Unusual infection by anatomical site	7037	TFRC	OMIM:616740
HP:0032158	Unusual infection by anatomical site	731	C8A	OMIM:613790
HP:0032158	Unusual infection by anatomical site	57591	MRTFA	OMIM:618847
HP:0032158	Unusual infection by anatomical site	50943	FOXP3	ORPHA:37042
HP:0032158	Unusual infection by anatomical site	10095	ARPC1B	OMIM:617718
HP:0032158	Unusual infection by anatomical site	81839	VANGL1	OMIM:600145
HP:0032158	Unusual infection by anatomical site	7852	CXCR4	ORPHA:51636
HP:0032158	Unusual infection by anatomical site	7098	TLR3	OMIM:613002
HP:0032158	Unusual infection by anatomical site	721	C4B	OMIM:614379
HP:0032158	Unusual infection by anatomical site	6688	SPI1	OMIM:619707
HP:0032158	Unusual infection by anatomical site	6929	TCF3	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	973	CD79A	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	974	CD79B	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	3507	IGHM	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	29760	BLNK	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	5295	PIK3R1	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	56262	LRRC8A	ORPHA:33110
HP:0032158	Unusual infection by anatomical site	149233	IL23R	ORPHA:117
HP:0032158	Unusual infection by anatomical site	6775	STAT4	ORPHA:117
HP:0032158	Unusual infection by anatomical site	3586	IL10	ORPHA:117
HP:0032158	Unusual infection by anatomical site	1230	CCR1	ORPHA:117
HP:0032158	Unusual infection by anatomical site	355	FAS	ORPHA:117
HP:0032158	Unusual infection by anatomical site	3592	IL12A	ORPHA:117
HP:0032158	Unusual infection by anatomical site	101928376	IL12A-AS1	ORPHA:117
HP:0032158	Unusual infection by anatomical site	7099	TLR4	ORPHA:117
HP:0032158	Unusual infection by anatomical site	3459	IFNGR1	ORPHA:117
HP:0032158	Unusual infection by anatomical site	720	C4A	ORPHA:117
HP:0032158	Unusual infection by anatomical site	337867	UBAC2	ORPHA:117
HP:0032158	Unusual infection by anatomical site	51752	ERAP1	ORPHA:117
HP:0032158	Unusual infection by anatomical site	8302	KLRC4	ORPHA:117
HP:0032158	Unusual infection by anatomical site	6772	STAT1	ORPHA:391487
HP:0032158	Unusual infection by anatomical site	10043	TOM1	ORPHA:391487
HP:0032158	Unusual infection by anatomical site	4261	CIITA	OMIM:209920
HP:0032158	Unusual infection by anatomical site	5994	RFXAP	OMIM:209920
HP:0032158	Unusual infection by anatomical site	5993	RFX5	OMIM:209920
HP:0032158	Unusual infection by anatomical site	8625	RFXANK	OMIM:209920
HP:0032158	Unusual infection by anatomical site	8517	IKBKG	ORPHA:464
HP:0032158	Unusual infection by anatomical site	8676	STX11	ORPHA:540
HP:0032158	Unusual infection by anatomical site	201294	UNC13D	ORPHA:540
HP:0032158	Unusual infection by anatomical site	6813	STXBP2	ORPHA:540
HP:0032158	Unusual infection by anatomical site	8915	BCL10	OMIM:616098
HP:0032158	Unusual infection by anatomical site	54968	TMEM70	ORPHA:1194
HP:0032158	Unusual infection by anatomical site	3930	LBR	ORPHA:779
HP:0032158	Unusual infection by anatomical site	3662	IRF4	ORPHA:3452
HP:0032158	Unusual infection by anatomical site	340024	SLC6A19	ORPHA:2116
HP:0032158	Unusual infection by anatomical site	57393	CLTRN	ORPHA:2116
HP:0032158	Unusual infection by anatomical site	546	ATRX	ORPHA:847
HP:0032158	Unusual infection by anatomical site	79944	L2HGDH	ORPHA:79314
HP:0032158	Unusual infection by anatomical site	3426	CFI	OMIM:610984
HP:0032158	Unusual infection by anatomical site	4615	MYD88	OMIM:612260
HP:0032158	Unusual infection by anatomical site	55343	SLC35C1	ORPHA:99843
HP:0032158	Unusual infection by anatomical site	3561	IL2RG	OMIM:300400
HP:0032158	Unusual infection by anatomical site	10525	HYOU1	OMIM:233600
HP:0032158	Unusual infection by anatomical site	3661	IRF3	OMIM:616532
HP:0032158	Unusual infection by anatomical site	148022	TICAM1	OMIM:614850
HP:0032158	Unusual infection by anatomical site	81622	UNC93B1	OMIM:610551
HP:0032158	Unusual infection by anatomical site	3071	NCKAP1L	OMIM:618982
HP:0032158	Unusual infection by anatomical site	7187	TRAF3	OMIM:614849
HP:0032158	Unusual infection by anatomical site	677814	SNORA31	OMIM:619396
HP:0032158	Unusual infection by anatomical site	94	ACVRL1	OMIM:600376
HP:0032158	Unusual infection by anatomical site	2022	ENG	OMIM:187300
HP:0032158	Unusual infection by anatomical site	2261	FGFR3	OMIM:616482
HP:0032158	Unusual infection by anatomical site	3574	IL7	OMIM:618309
HP:0032158	Unusual infection by anatomical site	4598	MVK	OMIM:260920
HP:0032158	Unusual infection by anatomical site	5238	PGM3	OMIM:615816
HP:0032158	Unusual infection by anatomical site	146206	CARMIL2	OMIM:618131
HP:0032158	Unusual infection by anatomical site	84433	CARD11	OMIM:617638
HP:0032158	Unusual infection by anatomical site	81704	DOCK8	OMIM:243700
HP:0032158	Unusual infection by anatomical site	939	CD27	OMIM:615122
HP:0032158	Unusual infection by anatomical site	51163	DBR1	OMIM:619441
HP:0032159	Fungal meningitis	3574	IL7	OMIM:618309
HP:0032160	Cryptococcal meningitis	3574	IL7	OMIM:618309
HP:0032162	Unusual skin infection	4598	MVK	OMIM:260920
HP:0032162	Unusual skin infection	5238	PGM3	OMIM:615816
HP:0032162	Unusual skin infection	3071	NCKAP1L	OMIM:618982
HP:0032162	Unusual skin infection	8517	IKBKG	OMIM:300291
HP:0032162	Unusual skin infection	146206	CARMIL2	OMIM:618131
HP:0032162	Unusual skin infection	84433	CARD11	OMIM:617638
HP:0032162	Unusual skin infection	81704	DOCK8	OMIM:243700
HP:0032162	Unusual skin infection	64170	CARD9	OMIM:212050
HP:0032163	Molluscum contagiosum	4598	MVK	OMIM:260920
HP:0032163	Molluscum contagiosum	5238	PGM3	OMIM:615816
HP:0032163	Molluscum contagiosum	3071	NCKAP1L	OMIM:618982
HP:0032163	Molluscum contagiosum	8517	IKBKG	OMIM:300291
HP:0032163	Molluscum contagiosum	146206	CARMIL2	OMIM:618131
HP:0032163	Molluscum contagiosum	84433	CARD11	OMIM:617638
HP:0032163	Molluscum contagiosum	81704	DOCK8	OMIM:243700
HP:0032164	Increased blood folate concentration	10841	FTCD	ORPHA:51208
HP:0032165	Placental mesenchymal dysplasia	1028	CDKN1C	OMIM:130650
HP:0032165	Placental mesenchymal dysplasia	10984	KCNQ1OT1	OMIM:130650
HP:0032165	Placental mesenchymal dysplasia	3481	IGF2	OMIM:130650
HP:0032165	Placental mesenchymal dysplasia	3784	KCNQ1	OMIM:130650
HP:0032166	Unusual gastrointestinal infection	4860	PNP	ORPHA:760
HP:0032169	Severe infection	5896	RAG1	OMIM:601457
HP:0032169	Severe infection	5897	RAG2	OMIM:601457
HP:0032169	Severe infection	916	CD3E	ORPHA:169160
HP:0032169	Severe infection	919	CD247	ORPHA:169160
HP:0032169	Severe infection	3575	IL7R	OMIM:608971
HP:0032169	Severe infection	7098	TLR3	OMIM:613002
HP:0032169	Severe infection	10525	HYOU1	OMIM:233600
HP:0032169	Severe infection	6772	STAT1	OMIM:613796
HP:0032169	Severe infection	6772	STAT1	OMIM:614892
HP:0032169	Severe infection	3661	IRF3	OMIM:616532
HP:0032169	Severe infection	148022	TICAM1	OMIM:614850
HP:0032169	Severe infection	81622	UNC93B1	OMIM:610551
HP:0032169	Severe infection	29110	TBK1	OMIM:617900
HP:0032169	Severe infection	3071	NCKAP1L	OMIM:618982
HP:0032169	Severe infection	7187	TRAF3	OMIM:614849
HP:0032169	Severe infection	677814	SNORA31	OMIM:619396
HP:0032169	Severe infection	84061	MAGT1	OMIM:300853
HP:0032169	Severe infection	10043	TOM1	OMIM:619510
HP:0032169	Severe infection	54790	TET2	OMIM:619126
HP:0032169	Severe infection	28755	TRAC	OMIM:615387
HP:0032169	Severe infection	3702	ITK	OMIM:613011
HP:0032169	Severe infection	50619	DEF6	OMIM:619573
HP:0032169	Severe infection	27040	LAT	OMIM:617514
HP:0032169	Severe infection	5295	PIK3R1	OMIM:616005
HP:0032169	Severe infection	5580	PRKCD	OMIM:615559
HP:0032169	Severe infection	22806	IKZF3	OMIM:619437
HP:0032169	Severe infection	5238	PGM3	OMIM:615816
HP:0032169	Severe infection	3574	IL7	OMIM:618309
HP:0032169	Severe infection	147138	TMC8	OMIM:618231
HP:0032169	Severe infection	57169	ZNFX1	OMIM:619644
HP:0032169	Severe infection	135	ADORA2A	ORPHA:363549
HP:0032169	Severe infection	9636	ISG15	OMIM:616126
HP:0032169	Severe infection	6773	STAT2	OMIM:616636
HP:0032169	Severe infection	915	CD3D	OMIM:615617
HP:0032169	Severe infection	84433	CARD11	OMIM:617638
HP:0032169	Severe infection	55388	MCM10	OMIM:619313
HP:0032169	Severe infection	8517	IKBKG	OMIM:300291
HP:0032169	Severe infection	1777	DNASE2	OMIM:619858
HP:0032169	Severe infection	331	XIAP	OMIM:308240
HP:0032169	Severe infection	4068	SH2D1A	OMIM:308240
HP:0032169	Severe infection	2215	FCGR3B	ORPHA:464370
HP:0032169	Severe infection	5631	PRPS1	ORPHA:1187
HP:0032169	Severe infection	50943	FOXP3	OMIM:304790
HP:0032169	Severe infection	3514	IGKC	ORPHA:183675
HP:0032169	Severe infection	3501	IGHG2	ORPHA:183675
HP:0032169	Severe infection	3043	HBB	ORPHA:251380
HP:0032169	Severe infection	53335	BCL11A	ORPHA:251380
HP:0032169	Severe infection	10661	KLF1	ORPHA:251380
HP:0032169	Severe infection	3047	HBG1	ORPHA:251380
HP:0032169	Severe infection	3048	HBG2	ORPHA:251380
HP:0032169	Severe infection	4204	MECP2	OMIM:300260
HP:0032169	Severe infection	3579	CXCR2	OMIM:619407
HP:0032169	Severe infection	1991	ELANE	ORPHA:2686
HP:0032169	Severe infection	641	BLM	ORPHA:125
HP:0032169	Severe infection	970	CD70	OMIM:618261
HP:0032169	Severe infection	7040	TGFB1	OMIM:618213
HP:0032169	Severe infection	1794	DOCK2	OMIM:616433
HP:0032169	Severe infection	5880	RAC2	OMIM:618986
HP:0032169	Severe infection	2214	FCGR3A	OMIM:615707
HP:0032169	Severe infection	3559	IL2RA	OMIM:606367
HP:0032169	Severe infection	5966	REL	OMIM:619652
HP:0032169	Severe infection	7174	TPP2	OMIM:619220
HP:0032169	Severe infection	3560	IL2RB	OMIM:618495
HP:0032169	Severe infection	1503	CTPS1	OMIM:615897
HP:0032169	Severe infection	51284	TLR7	OMIM:301051
HP:0032169	Severe infection	939	CD27	OMIM:615122
HP:0032169	Severe infection	51163	DBR1	OMIM:619441
HP:0032169	Severe infection	3665	IRF7	OMIM:616345
HP:0032169	Severe infection	54440	SASH3	OMIM:301082
HP:0032169	Severe infection	959	CD40LG	OMIM:308230
HP:0032170	Severe varicella zoster infection	641	BLM	ORPHA:125
HP:0032170	Severe varicella zoster infection	970	CD70	OMIM:618261
HP:0032170	Severe varicella zoster infection	84061	MAGT1	OMIM:300853
HP:0032170	Severe varicella zoster infection	7040	TGFB1	OMIM:618213
HP:0032170	Severe varicella zoster infection	939	CD27	OMIM:615122
HP:0032170	Severe varicella zoster infection	28755	TRAC	OMIM:615387
HP:0032170	Severe varicella zoster infection	1503	CTPS1	OMIM:615897
HP:0032170	Severe varicella zoster infection	1794	DOCK2	OMIM:616433
HP:0032170	Severe varicella zoster infection	5880	RAC2	OMIM:618986
HP:0032170	Severe varicella zoster infection	5238	PGM3	OMIM:615816
HP:0032170	Severe varicella zoster infection	54440	SASH3	OMIM:301082
HP:0032170	Severe varicella zoster infection	2214	FCGR3A	OMIM:615707
HP:0032170	Severe varicella zoster infection	3559	IL2RA	OMIM:606367
HP:0032177	Parenchymal consolidation	7080	NKX2-1	OMIM:610978
HP:0032179	Abnormal circulating globulin concentration	213	ALB	ORPHA:86816
HP:0032179	Abnormal circulating globulin concentration	7018	TF	OMIM:209300
HP:0032179	Abnormal circulating globulin concentration	5994	RFXAP	ORPHA:572
HP:0032179	Abnormal circulating globulin concentration	4261	CIITA	ORPHA:572
HP:0032179	Abnormal circulating globulin concentration	5993	RFX5	ORPHA:572
HP:0032179	Abnormal circulating globulin concentration	8625	RFXANK	ORPHA:572
HP:0032179	Abnormal circulating globulin concentration	567	B2M	OMIM:241600
HP:0032179	Abnormal circulating globulin concentration	2495	FTH1	OMIM:615517
HP:0032179	Abnormal circulating globulin concentration	5054	SERPINE1	ORPHA:465
HP:0032179	Abnormal circulating globulin concentration	5340	PLG	OMIM:217090
HP:0032179	Abnormal circulating globulin concentration	5340	PLG	ORPHA:722
HP:0032180	Abnormal circulating metabolite concentration	10128	LRPPRC	OMIM:220111
HP:0032180	Abnormal circulating metabolite concentration	56945	MRPS22	OMIM:611719
HP:0032180	Abnormal circulating metabolite concentration	4141	MARS1	OMIM:615486
HP:0032180	Abnormal circulating metabolite concentration	790	CAD	OMIM:616457
HP:0032180	Abnormal circulating metabolite concentration	3141	HLCS	OMIM:253270
HP:0032180	Abnormal circulating metabolite concentration	3141	HLCS	ORPHA:79242
HP:0032180	Abnormal circulating metabolite concentration	60561	RINT1	OMIM:618641
HP:0032180	Abnormal circulating metabolite concentration	686	BTD	OMIM:253260
HP:0032180	Abnormal circulating metabolite concentration	686	BTD	ORPHA:79241
HP:0032180	Abnormal circulating metabolite concentration	51594	NBAS	OMIM:616483
HP:0032180	Abnormal circulating metabolite concentration	5162	PDHB	OMIM:614111
HP:0032180	Abnormal circulating metabolite concentration	440138	ALG11	OMIM:613661
HP:0032180	Abnormal circulating metabolite concentration	7284	TUFM	OMIM:610678
HP:0032180	Abnormal circulating metabolite concentration	1537	CYC1	OMIM:615453
HP:0032180	Abnormal circulating metabolite concentration	2806	GOT2	OMIM:618721
HP:0032180	Abnormal circulating metabolite concentration	79587	CARS2	OMIM:616672
HP:0032180	Abnormal circulating metabolite concentration	7388	UQCRH	OMIM:620137
HP:0032180	Abnormal circulating metabolite concentration	1576	CYP3A4	OMIM:619073
HP:0032180	Abnormal circulating metabolite concentration	7421	VDR	ORPHA:93160
HP:0032180	Abnormal circulating metabolite concentration	7421	VDR	OMIM:277440
HP:0032180	Abnormal circulating metabolite concentration	5251	PHEX	ORPHA:89936
HP:0032180	Abnormal circulating metabolite concentration	5251	PHEX	OMIM:307800
HP:0032180	Abnormal circulating metabolite concentration	8074	FGF23	ORPHA:89937
HP:0032180	Abnormal circulating metabolite concentration	8074	FGF23	OMIM:193100
HP:0032180	Abnormal circulating metabolite concentration	229	ALDOB	OMIM:229600
HP:0032180	Abnormal circulating metabolite concentration	229	ALDOB	ORPHA:469
HP:0032180	Abnormal circulating metabolite concentration	1184	CLCN5	OMIM:300554
HP:0032180	Abnormal circulating metabolite concentration	1184	CLCN5	OMIM:308990
HP:0032180	Abnormal circulating metabolite concentration	1184	CLCN5	OMIM:300009
HP:0032180	Abnormal circulating metabolite concentration	142680	SLC34A3	OMIM:241530
HP:0032180	Abnormal circulating metabolite concentration	142680	SLC34A3	ORPHA:157215
HP:0032180	Abnormal circulating metabolite concentration	1594	CYP27B1	ORPHA:289157
HP:0032180	Abnormal circulating metabolite concentration	1594	CYP27B1	OMIM:264700
HP:0032180	Abnormal circulating metabolite concentration	120227	CYP2R1	ORPHA:289157
HP:0032180	Abnormal circulating metabolite concentration	120227	CYP2R1	OMIM:600081
HP:0032180	Abnormal circulating metabolite concentration	9368	NHERF1	OMIM:612287
HP:0032180	Abnormal circulating metabolite concentration	10312	TCIRG1	ORPHA:667
HP:0032180	Abnormal circulating metabolite concentration	1186	CLCN7	ORPHA:667
HP:0032180	Abnormal circulating metabolite concentration	29887	SNX10	ORPHA:667
HP:0032180	Abnormal circulating metabolite concentration	8600	TNFSF11	ORPHA:667
HP:0032180	Abnormal circulating metabolite concentration	79577	CDC73	ORPHA:143
HP:0032180	Abnormal circulating metabolite concentration	79577	CDC73	ORPHA:99880
HP:0032180	Abnormal circulating metabolite concentration	79577	CDC73	ORPHA:99879
HP:0032180	Abnormal circulating metabolite concentration	3636	INPPL1	OMIM:258480
HP:0032180	Abnormal circulating metabolite concentration	56975	FAM20C	OMIM:259775
HP:0032180	Abnormal circulating metabolite concentration	5745	PTH1R	OMIM:156400
HP:0032180	Abnormal circulating metabolite concentration	3172	HNF4A	OMIM:616026
HP:0032180	Abnormal circulating metabolite concentration	4221	MEN1	ORPHA:99879
HP:0032180	Abnormal circulating metabolite concentration	9247	GCM2	ORPHA:99879
HP:0032180	Abnormal circulating metabolite concentration	1175	AP2S1	OMIM:600740
HP:0032180	Abnormal circulating metabolite concentration	846	CASR	OMIM:239200
HP:0032180	Abnormal circulating metabolite concentration	3251	HPRT1	ORPHA:510
HP:0032180	Abnormal circulating metabolite concentration	3251	HPRT1	OMIM:300322
HP:0032180	Abnormal circulating metabolite concentration	3251	HPRT1	OMIM:300323
HP:0032180	Abnormal circulating metabolite concentration	3251	HPRT1	ORPHA:79233
HP:0032180	Abnormal circulating metabolite concentration	25970	SH2B1	ORPHA:261222
HP:0032180	Abnormal circulating metabolite concentration	5972	REN	OMIM:613092
HP:0032180	Abnormal circulating metabolite concentration	29927	SEC61A1	OMIM:617056
HP:0032180	Abnormal circulating metabolite concentration	5631	PRPS1	ORPHA:411543
HP:0032180	Abnormal circulating metabolite concentration	5631	PRPS1	ORPHA:411536
HP:0032180	Abnormal circulating metabolite concentration	5631	PRPS1	OMIM:300661
HP:0032180	Abnormal circulating metabolite concentration	6928	HNF1B	ORPHA:93111
HP:0032180	Abnormal circulating metabolite concentration	6928	HNF1B	OMIM:137920
HP:0032180	Abnormal circulating metabolite concentration	4609	MYC	ORPHA:543
HP:0032180	Abnormal circulating metabolite concentration	3998	LMAN1	ORPHA:35909
HP:0032180	Abnormal circulating metabolite concentration	90411	MCFD2	ORPHA:35909
HP:0032180	Abnormal circulating metabolite concentration	4982	TNFRSF11B	ORPHA:2801
HP:0032180	Abnormal circulating metabolite concentration	4982	TNFRSF11B	OMIM:239000
HP:0032180	Abnormal circulating metabolite concentration	8792	TNFRSF11A	ORPHA:2801
HP:0032180	Abnormal circulating metabolite concentration	10686	CLDN16	OMIM:248250
HP:0032180	Abnormal circulating metabolite concentration	38	ACAT1	ORPHA:134
HP:0032180	Abnormal circulating metabolite concentration	7369	UMOD	OMIM:162000
HP:0032180	Abnormal circulating metabolite concentration	2538	G6PC1	OMIM:232200
HP:0032180	Abnormal circulating metabolite concentration	4582	MUC1	OMIM:174000
HP:0032180	Abnormal circulating metabolite concentration	54938	SARS2	OMIM:613845
HP:0032180	Abnormal circulating metabolite concentration	595	CCND1	ORPHA:29073
HP:0032180	Abnormal circulating metabolite concentration	5076	PAX2	ORPHA:97362
HP:0032180	Abnormal circulating metabolite concentration	5087	PBX1	ORPHA:97362
HP:0032180	Abnormal circulating metabolite concentration	4791	NFKB2	ORPHA:293978
HP:0032180	Abnormal circulating metabolite concentration	5447	POR	OMIM:201750
HP:0032180	Abnormal circulating metabolite concentration	54809	SAMD9	OMIM:617053
HP:0032180	Abnormal circulating metabolite concentration	10058	ABCB6	ORPHA:90044
HP:0032180	Abnormal circulating metabolite concentration	10058	ABCB6	OMIM:609153
HP:0032180	Abnormal circulating metabolite concentration	100134444	KCNJ18	ORPHA:79102
HP:0032180	Abnormal circulating metabolite concentration	2556	GABRA3	ORPHA:79102
HP:0032180	Abnormal circulating metabolite concentration	6340	SCNN1G	ORPHA:171876
HP:0032180	Abnormal circulating metabolite concentration	6340	SCNN1G	OMIM:620126
HP:0032180	Abnormal circulating metabolite concentration	6337	SCNN1A	ORPHA:171876
HP:0032180	Abnormal circulating metabolite concentration	6337	SCNN1A	OMIM:264350
HP:0032180	Abnormal circulating metabolite concentration	6338	SCNN1B	ORPHA:171876
HP:0032180	Abnormal circulating metabolite concentration	6338	SCNN1B	OMIM:620125
HP:0032180	Abnormal circulating metabolite concentration	4306	NR3C2	OMIM:177735
HP:0032180	Abnormal circulating metabolite concentration	4512	MT-CO1	ORPHA:99845
HP:0032180	Abnormal circulating metabolite concentration	4514	MT-CO3	ORPHA:99845
HP:0032180	Abnormal circulating metabolite concentration	6513	SLC2A1	OMIM:608885
HP:0032180	Abnormal circulating metabolite concentration	3284	HSD3B2	ORPHA:90791
HP:0032180	Abnormal circulating metabolite concentration	3284	HSD3B2	OMIM:201810
HP:0032180	Abnormal circulating metabolite concentration	771	CA12	OMIM:143860
HP:0032180	Abnormal circulating metabolite concentration	9095	TBX19	ORPHA:199296
HP:0032180	Abnormal circulating metabolite concentration	10463	SLC30A9	OMIM:617595
HP:0032180	Abnormal circulating metabolite concentration	1585	CYP11B2	OMIM:203400
HP:0032180	Abnormal circulating metabolite concentration	1585	CYP11B2	OMIM:610600
HP:0032180	Abnormal circulating metabolite concentration	1585	CYP11B2	ORPHA:556030
HP:0032180	Abnormal circulating metabolite concentration	6522	SLC4A2	OMIM:620366
HP:0032180	Abnormal circulating metabolite concentration	56246	MRAP	ORPHA:361
HP:0032180	Abnormal circulating metabolite concentration	6770	STAR	ORPHA:361
HP:0032180	Abnormal circulating metabolite concentration	4158	MC2R	ORPHA:361
HP:0032180	Abnormal circulating metabolite concentration	23530	NNT	ORPHA:361
HP:0032180	Abnormal circulating metabolite concentration	23530	NNT	OMIM:614736
HP:0032180	Abnormal circulating metabolite concentration	65266	WNK4	OMIM:614491
HP:0032180	Abnormal circulating metabolite concentration	65125	WNK1	OMIM:614492
HP:0032180	Abnormal circulating metabolite concentration	26249	KLHL3	OMIM:614495
HP:0032180	Abnormal circulating metabolite concentration	8452	CUL3	OMIM:614496
HP:0032180	Abnormal circulating metabolite concentration	27130	INVS	OMIM:602088
HP:0032180	Abnormal circulating metabolite concentration	2731	GLDC	OMIM:605899
HP:0032180	Abnormal circulating metabolite concentration	275	AMT	OMIM:605899
HP:0032180	Abnormal circulating metabolite concentration	8802	SUCLG1	OMIM:245400
HP:0032180	Abnormal circulating metabolite concentration	100303755	PET117	OMIM:619063
HP:0032180	Abnormal circulating metabolite concentration	29968	PSAT1	ORPHA:284417
HP:0032180	Abnormal circulating metabolite concentration	27247	NFU1	OMIM:605711
HP:0032180	Abnormal circulating metabolite concentration	348932	SLC6A18	ORPHA:42062
HP:0032180	Abnormal circulating metabolite concentration	153201	SLC36A2	ORPHA:42062
HP:0032180	Abnormal circulating metabolite concentration	54716	SLC6A20	ORPHA:42062
HP:0032180	Abnormal circulating metabolite concentration	340024	SLC6A19	ORPHA:42062
HP:0032180	Abnormal circulating metabolite concentration	200205	IBA57	OMIM:615330
HP:0032180	Abnormal circulating metabolite concentration	55532	SLC30A10	ORPHA:309854
HP:0032180	Abnormal circulating metabolite concentration	388962	BOLA3	OMIM:614299
HP:0032180	Abnormal circulating metabolite concentration	51218	GLRX5	OMIM:616859
HP:0032180	Abnormal circulating metabolite concentration	326625	MMAB	OMIM:251110
HP:0032180	Abnormal circulating metabolite concentration	4594	MMUT	OMIM:251000
HP:0032180	Abnormal circulating metabolite concentration	132158	GLYCTK	ORPHA:941
HP:0032180	Abnormal circulating metabolite concentration	166785	MMAA	OMIM:251100
HP:0032180	Abnormal circulating metabolite concentration	5095	PCCA	OMIM:606054
HP:0032180	Abnormal circulating metabolite concentration	5096	PCCB	OMIM:606054
HP:0032180	Abnormal circulating metabolite concentration	83483	PLVAP	OMIM:618183
HP:0032180	Abnormal circulating metabolite concentration	2235	FECH	OMIM:177000
HP:0032180	Abnormal circulating metabolite concentration	201294	UNC13D	OMIM:608898
HP:0032180	Abnormal circulating metabolite concentration	201294	UNC13D	ORPHA:540
HP:0032180	Abnormal circulating metabolite concentration	286053	NSMCE2	OMIM:617253
HP:0032180	Abnormal circulating metabolite concentration	286053	NSMCE2	ORPHA:436182
HP:0032180	Abnormal circulating metabolite concentration	55388	MCM10	OMIM:619313
HP:0032180	Abnormal circulating metabolite concentration	331	XIAP	OMIM:300635
HP:0032180	Abnormal circulating metabolite concentration	4160	MC4R	ORPHA:71529
HP:0032180	Abnormal circulating metabolite concentration	3990	LIPC	OMIM:614025
HP:0032180	Abnormal circulating metabolite concentration	3990	LIPC	ORPHA:140905
HP:0032180	Abnormal circulating metabolite concentration	63924	CIDEC	OMIM:615238
HP:0032180	Abnormal circulating metabolite concentration	63924	CIDEC	ORPHA:435651
HP:0032180	Abnormal circulating metabolite concentration	857	CAV1	OMIM:612526
HP:0032180	Abnormal circulating metabolite concentration	857	CAV1	OMIM:606721
HP:0032180	Abnormal circulating metabolite concentration	857	CAV1	ORPHA:528
HP:0032180	Abnormal circulating metabolite concentration	5551	PRF1	ORPHA:540
HP:0032180	Abnormal circulating metabolite concentration	5551	PRF1	OMIM:603553
HP:0032180	Abnormal circulating metabolite concentration	8676	STX11	ORPHA:540
HP:0032180	Abnormal circulating metabolite concentration	8676	STX11	OMIM:603552
HP:0032180	Abnormal circulating metabolite concentration	6813	STXBP2	ORPHA:540
HP:0032180	Abnormal circulating metabolite concentration	6813	STXBP2	OMIM:613101
HP:0032180	Abnormal circulating metabolite concentration	26580	BSCL2	ORPHA:363400
HP:0032180	Abnormal circulating metabolite concentration	26580	BSCL2	OMIM:615924
HP:0032180	Abnormal circulating metabolite concentration	26580	BSCL2	OMIM:269700
HP:0032180	Abnormal circulating metabolite concentration	26580	BSCL2	ORPHA:528
HP:0032180	Abnormal circulating metabolite concentration	2314	FLII	ORPHA:819
HP:0032180	Abnormal circulating metabolite concentration	23096	IQSEC2	ORPHA:819
HP:0032180	Abnormal circulating metabolite concentration	10743	RAI1	ORPHA:819
HP:0032180	Abnormal circulating metabolite concentration	10743	RAI1	OMIM:182290
HP:0032180	Abnormal circulating metabolite concentration	10522	DEAF1	ORPHA:819
HP:0032180	Abnormal circulating metabolite concentration	3952	LEP	ORPHA:66628
HP:0032180	Abnormal circulating metabolite concentration	7486	WRN	OMIM:277700
HP:0032180	Abnormal circulating metabolite concentration	2710	GK	OMIM:307030
HP:0032180	Abnormal circulating metabolite concentration	2542	SLC37A4	ORPHA:79259
HP:0032180	Abnormal circulating metabolite concentration	5699	PSMB10	OMIM:619175
HP:0032180	Abnormal circulating metabolite concentration	50619	DEF6	OMIM:619573
HP:0032180	Abnormal circulating metabolite concentration	9149	DYRK1B	OMIM:615812
HP:0032180	Abnormal circulating metabolite concentration	208	AKT2	ORPHA:79085
HP:0032180	Abnormal circulating metabolite concentration	5346	PLIN1	OMIM:613877
HP:0032180	Abnormal circulating metabolite concentration	5346	PLIN1	ORPHA:280356
HP:0032180	Abnormal circulating metabolite concentration	284654	RSPO1	OMIM:610644
HP:0032180	Abnormal circulating metabolite concentration	1581	CYP7A1	ORPHA:209902
HP:0032180	Abnormal circulating metabolite concentration	10555	AGPAT2	OMIM:608594
HP:0032180	Abnormal circulating metabolite concentration	10555	AGPAT2	ORPHA:528
HP:0032180	Abnormal circulating metabolite concentration	1130	LYST	ORPHA:167
HP:0032180	Abnormal circulating metabolite concentration	5424	POLD1	OMIM:615381
HP:0032180	Abnormal circulating metabolite concentration	5283	PIGH	OMIM:618010
HP:0032180	Abnormal circulating metabolite concentration	3953	LEPR	ORPHA:179494
HP:0032180	Abnormal circulating metabolite concentration	165	AEBP1	ORPHA:536532
HP:0032180	Abnormal circulating metabolite concentration	8879	SGPL1	OMIM:617575
HP:0032180	Abnormal circulating metabolite concentration	51604	PIGT	ORPHA:369837
HP:0032180	Abnormal circulating metabolite concentration	5836	PYGL	OMIM:232700
HP:0032180	Abnormal circulating metabolite concentration	11128	POLR3A	OMIM:264090
HP:0032180	Abnormal circulating metabolite concentration	11128	POLR3A	ORPHA:3455
HP:0032180	Abnormal circulating metabolite concentration	4040	LRP6	OMIM:610947
HP:0032180	Abnormal circulating metabolite concentration	84868	HAVCR2	OMIM:618398
HP:0032180	Abnormal circulating metabolite concentration	10651	MTX2	OMIM:619127
HP:0032180	Abnormal circulating metabolite concentration	182	JAG1	OMIM:118450
HP:0032180	Abnormal circulating metabolite concentration	6514	SLC2A2	ORPHA:2088
HP:0032180	Abnormal circulating metabolite concentration	7274	TTPA	OMIM:277460
HP:0032180	Abnormal circulating metabolite concentration	5294	PIK3CG	OMIM:619802
HP:0032180	Abnormal circulating metabolite concentration	7518	XRCC4	ORPHA:436182
HP:0032180	Abnormal circulating metabolite concentration	51128	SAR1B	ORPHA:71
HP:0032180	Abnormal circulating metabolite concentration	2819	GPD1	OMIM:614480
HP:0032180	Abnormal circulating metabolite concentration	5692	PSMB4	OMIM:617591
HP:0032180	Abnormal circulating metabolite concentration	5698	PSMB9	OMIM:617591
HP:0032180	Abnormal circulating metabolite concentration	2193	FARSA	OMIM:619013
HP:0032180	Abnormal circulating metabolite concentration	8565	YARS1	OMIM:619418
HP:0032180	Abnormal circulating metabolite concentration	51099	ABHD5	ORPHA:98907
HP:0032180	Abnormal circulating metabolite concentration	2353	FOS	ORPHA:528
HP:0032180	Abnormal circulating metabolite concentration	26119	LDLRAP1	OMIM:603813
HP:0032180	Abnormal circulating metabolite concentration	64788	LMF1	OMIM:246650
HP:0032180	Abnormal circulating metabolite concentration	344	APOC2	OMIM:207750
HP:0032180	Abnormal circulating metabolite concentration	109	ADCY3	OMIM:617885
HP:0032180	Abnormal circulating metabolite concentration	55315	SLC29A3	ORPHA:168569
HP:0032180	Abnormal circulating metabolite concentration	1285	COL4A3	OMIM:104200
HP:0032180	Abnormal circulating metabolite concentration	8882	ZPR1	OMIM:619321
HP:0032180	Abnormal circulating metabolite concentration	4522	MTHFD1	OMIM:617780
HP:0032180	Abnormal circulating metabolite concentration	3054	HCFC1	OMIM:309541
HP:0032180	Abnormal circulating metabolite concentration	51293	CD320	OMIM:613646
HP:0032180	Abnormal circulating metabolite concentration	84693	MCEE	OMIM:251120
HP:0032180	Abnormal circulating metabolite concentration	10157	AASS	ORPHA:2203
HP:0032180	Abnormal circulating metabolite concentration	10157	AASS	OMIM:238700
HP:0032180	Abnormal circulating metabolite concentration	10157	AASS	ORPHA:3124
HP:0032180	Abnormal circulating metabolite concentration	2625	GATA3	ORPHA:2237
HP:0032180	Abnormal circulating metabolite concentration	5741	PTH	OMIM:146200
HP:0032180	Abnormal circulating metabolite concentration	776	CACNA1D	OMIM:615474
HP:0032180	Abnormal circulating metabolite concentration	776	CACNA1D	ORPHA:369929
HP:0032180	Abnormal circulating metabolite concentration	3291	HSD11B2	OMIM:218030
HP:0032180	Abnormal circulating metabolite concentration	3291	HSD11B2	ORPHA:320
HP:0032180	Abnormal circulating metabolite concentration	2908	NR3C1	ORPHA:786
HP:0032180	Abnormal circulating metabolite concentration	1584	CYP11B1	OMIM:202010
HP:0032180	Abnormal circulating metabolite concentration	1584	CYP11B1	ORPHA:90795
HP:0032180	Abnormal circulating metabolite concentration	1584	CYP11B1	ORPHA:403
HP:0032180	Abnormal circulating metabolite concentration	866	SERPINA6	OMIM:611489
HP:0032180	Abnormal circulating metabolite concentration	1586	CYP17A1	ORPHA:90793
HP:0032180	Abnormal circulating metabolite concentration	801	CALM1	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	3753	KCNE1	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	3762	KCNJ5	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	3762	KCNJ5	OMIM:613677
HP:0032180	Abnormal circulating metabolite concentration	3762	KCNJ5	ORPHA:251274
HP:0032180	Abnormal circulating metabolite concentration	805	CALM2	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	6910	TBX5	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	6336	SCN10A	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	3757	KCNH2	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	9992	KCNE2	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	10142	AKAP9	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	775	CACNA1C	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	3784	KCNQ1	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	10345	TRDN	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	6330	SCN4B	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	808	CALM3	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	6640	SNTA1	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	287	ANK2	ORPHA:101016
HP:0032180	Abnormal circulating metabolite concentration	55898	UNC45A	OMIM:619377
HP:0032180	Abnormal circulating metabolite concentration	3759	KCNJ2	OMIM:170390
HP:0032180	Abnormal circulating metabolite concentration	1181	CLCN2	ORPHA:404
HP:0032180	Abnormal circulating metabolite concentration	1181	CLCN2	OMIM:605635
HP:0032180	Abnormal circulating metabolite concentration	84133	ZNRF3	ORPHA:1501
HP:0032180	Abnormal circulating metabolite concentration	7157	TP53	ORPHA:1501
HP:0032180	Abnormal circulating metabolite concentration	1499	CTNNB1	ORPHA:1501
HP:0032180	Abnormal circulating metabolite concentration	1029	CDKN2A	ORPHA:1501
HP:0032180	Abnormal circulating metabolite concentration	7015	TERT	ORPHA:1501
HP:0032180	Abnormal circulating metabolite concentration	50617	ATP6V0A4	OMIM:602722
HP:0032180	Abnormal circulating metabolite concentration	1281	COL3A1	ORPHA:286
HP:0032180	Abnormal circulating metabolite concentration	64072	CDH23	ORPHA:91347
HP:0032180	Abnormal circulating metabolite concentration	9049	AIP	OMIM:219090
HP:0032180	Abnormal circulating metabolite concentration	9101	USP8	OMIM:219090
HP:0032180	Abnormal circulating metabolite concentration	9842	PLEKHM1	ORPHA:210110
HP:0032180	Abnormal circulating metabolite concentration	9508	ADAMTS3	ORPHA:2136
HP:0032180	Abnormal circulating metabolite concentration	79633	FAT4	ORPHA:2136
HP:0032180	Abnormal circulating metabolite concentration	3032	HADHB	ORPHA:746
HP:0032180	Abnormal circulating metabolite concentration	1436	CSF1R	OMIM:618476
HP:0032180	Abnormal circulating metabolite concentration	9993	DGCR2	OMIM:192430
HP:0032180	Abnormal circulating metabolite concentration	8220	ESS2	OMIM:192430
HP:0032180	Abnormal circulating metabolite concentration	8214	DGCR6	OMIM:192430
HP:0032180	Abnormal circulating metabolite concentration	54487	DGCR8	OMIM:192430
HP:0032180	Abnormal circulating metabolite concentration	6899	TBX1	OMIM:192430
HP:0032180	Abnormal circulating metabolite concentration	6899	TBX1	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	6899	TBX1	OMIM:188400
HP:0032180	Abnormal circulating metabolite concentration	5495	PPM1B	ORPHA:163693
HP:0032180	Abnormal circulating metabolite concentration	6519	SLC3A1	ORPHA:163693
HP:0032180	Abnormal circulating metabolite concentration	9581	PREPL	ORPHA:163693
HP:0032180	Abnormal circulating metabolite concentration	79823	CAMKMT	ORPHA:163693
HP:0032180	Abnormal circulating metabolite concentration	695	BTK	ORPHA:47
HP:0032180	Abnormal circulating metabolite concentration	6023	RMRP	ORPHA:175
HP:0032180	Abnormal circulating metabolite concentration	1312	COMT	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	221037	JMJD1C	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	2812	GP1BB	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	6239	RREB1	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	7290	HIRA	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	9632	SEC24C	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	7353	UFD1	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	421	ARVCF	ORPHA:567
HP:0032180	Abnormal circulating metabolite concentration	55764	IFT122	OMIM:218330
HP:0032180	Abnormal circulating metabolite concentration	55636	CHD7	OMIM:214800
HP:0032180	Abnormal circulating metabolite concentration	8021	NUP214	OMIM:618426
HP:0032180	Abnormal circulating metabolite concentration	190	NR0B1	OMIM:300200
HP:0032180	Abnormal circulating metabolite concentration	3662	IRF4	ORPHA:3452
HP:0032180	Abnormal circulating metabolite concentration	471	ATIC	OMIM:608688
HP:0032180	Abnormal circulating metabolite concentration	199221	DZIP1L	ORPHA:731
HP:0032180	Abnormal circulating metabolite concentration	50628	GEMIN4	OMIM:617913
HP:0032180	Abnormal circulating metabolite concentration	51567	TDP2	OMIM:616949
HP:0032180	Abnormal circulating metabolite concentration	4714	NDUFB8	OMIM:618252
HP:0032180	Abnormal circulating metabolite concentration	5498	PPOX	ORPHA:79473
HP:0032180	Abnormal circulating metabolite concentration	3145	HMBS	ORPHA:79276
HP:0032180	Abnormal circulating metabolite concentration	7187	TRAF3	ORPHA:1930
HP:0032180	Abnormal circulating metabolite concentration	81622	UNC93B1	ORPHA:1930
HP:0032180	Abnormal circulating metabolite concentration	148022	TICAM1	ORPHA:1930
HP:0032180	Abnormal circulating metabolite concentration	7098	TLR3	ORPHA:1930
HP:0032180	Abnormal circulating metabolite concentration	29110	TBK1	ORPHA:1930
HP:0032180	Abnormal circulating metabolite concentration	4953	ODC1	OMIM:619075
HP:0032180	Abnormal circulating metabolite concentration	2936	GSR	OMIM:618660
HP:0032180	Abnormal circulating metabolite concentration	6711	SPTBN1	OMIM:619475
HP:0032180	Abnormal circulating metabolite concentration	222546	RFX6	OMIM:615710
HP:0032180	Abnormal circulating metabolite concentration	100151683	RNU4ATAC	OMIM:210710
HP:0032180	Abnormal circulating metabolite concentration	57539	WDR35	OMIM:613610
HP:0032180	Abnormal circulating metabolite concentration	286	ANK1	OMIM:182900
HP:0032180	Abnormal circulating metabolite concentration	286	ANK1	ORPHA:822
HP:0032180	Abnormal circulating metabolite concentration	2038	EPB42	ORPHA:822
HP:0032180	Abnormal circulating metabolite concentration	5443	POMC	OMIM:609734
HP:0032180	Abnormal circulating metabolite concentration	55610	VPS50	OMIM:619685
HP:0032180	Abnormal circulating metabolite concentration	374879	ZNF699	OMIM:619488
HP:0032180	Abnormal circulating metabolite concentration	3098	HK1	OMIM:235700
HP:0032180	Abnormal circulating metabolite concentration	5015	OTX2	OMIM:613986
HP:0032180	Abnormal circulating metabolite concentration	9338	TCEAL1	OMIM:301094
HP:0032180	Abnormal circulating metabolite concentration	9968	MED12	OMIM:301068
HP:0032180	Abnormal circulating metabolite concentration	6005	RHAG	OMIM:185000
HP:0032180	Abnormal circulating metabolite concentration	6005	RHAG	ORPHA:71275
HP:0032180	Abnormal circulating metabolite concentration	3930	LBR	OMIM:613471
HP:0032180	Abnormal circulating metabolite concentration	8260	NAA10	OMIM:300855
HP:0032180	Abnormal circulating metabolite concentration	10661	KLF1	OMIM:613673
HP:0032180	Abnormal circulating metabolite concentration	28962	OSTM1	OMIM:259720
HP:0032180	Abnormal circulating metabolite concentration	146059	CDAN1	OMIM:224120
HP:0032180	Abnormal circulating metabolite concentration	5230	PGK1	ORPHA:713
HP:0032180	Abnormal circulating metabolite concentration	6006	RHCE	ORPHA:71275
HP:0032180	Abnormal circulating metabolite concentration	6007	RHD	ORPHA:71275
HP:0032180	Abnormal circulating metabolite concentration	5144	PDE4D	ORPHA:280651
HP:0032180	Abnormal circulating metabolite concentration	149775	GNAS-AS1	OMIM:603233
HP:0032180	Abnormal circulating metabolite concentration	1244	ABCC2	ORPHA:234
HP:0032180	Abnormal circulating metabolite concentration	1244	ABCC2	OMIM:237500
HP:0032180	Abnormal circulating metabolite concentration	8647	ABCB11	OMIM:601847
HP:0032180	Abnormal circulating metabolite concentration	8647	ABCB11	OMIM:605479
HP:0032180	Abnormal circulating metabolite concentration	26503	SLC17A5	OMIM:269920
HP:0032180	Abnormal circulating metabolite concentration	570	BAAT	OMIM:619232
HP:0032180	Abnormal circulating metabolite concentration	28234	SLCO1B3	OMIM:237450
HP:0032180	Abnormal circulating metabolite concentration	28234	SLCO1B3	ORPHA:3111
HP:0032180	Abnormal circulating metabolite concentration	10599	SLCO1B1	OMIM:237450
HP:0032180	Abnormal circulating metabolite concentration	10599	SLCO1B1	ORPHA:3111
HP:0032180	Abnormal circulating metabolite concentration	26276	VPS33B	OMIM:208085
HP:0032180	Abnormal circulating metabolite concentration	26276	VPS33B	OMIM:620010
HP:0032180	Abnormal circulating metabolite concentration	200931	SLC51A	OMIM:619484
HP:0032180	Abnormal circulating metabolite concentration	9971	NR1H4	OMIM:617049
HP:0032180	Abnormal circulating metabolite concentration	63894	VIPAS39	OMIM:613404
HP:0032180	Abnormal circulating metabolite concentration	197322	ACSF3	ORPHA:289504
HP:0032180	Abnormal circulating metabolite concentration	4329	ALDH6A1	OMIM:614105
HP:0032180	Abnormal circulating metabolite concentration	140803	TRPM6	OMIM:602014
HP:0032180	Abnormal circulating metabolite concentration	486	FXYD2	OMIM:154020
HP:0032180	Abnormal circulating metabolite concentration	1950	EGF	OMIM:611718
HP:0032180	Abnormal circulating metabolite concentration	54805	CNNM2	OMIM:613882
HP:0032180	Abnormal circulating metabolite concentration	54805	CNNM2	OMIM:616418
HP:0032180	Abnormal circulating metabolite concentration	6559	SLC12A3	OMIM:263800
HP:0032180	Abnormal circulating metabolite concentration	6559	SLC12A3	ORPHA:358
HP:0032180	Abnormal circulating metabolite concentration	2783	GNB2	OMIM:619503
HP:0032180	Abnormal circulating metabolite concentration	7074	TIAM1	OMIM:619908
HP:0032180	Abnormal circulating metabolite concentration	58528	RRAGD	OMIM:620152
HP:0032180	Abnormal circulating metabolite concentration	9071	CLDN10	OMIM:617671
HP:0032180	Abnormal circulating metabolite concentration	55654	TMEM127	OMIM:171300
HP:0032180	Abnormal circulating metabolite concentration	55654	TMEM127	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	5979	RET	OMIM:171300
HP:0032180	Abnormal circulating metabolite concentration	5979	RET	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	5979	RET	ORPHA:276621
HP:0032180	Abnormal circulating metabolite concentration	6392	SDHD	OMIM:171300
HP:0032180	Abnormal circulating metabolite concentration	6392	SDHD	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	6392	SDHD	ORPHA:276621
HP:0032180	Abnormal circulating metabolite concentration	4149	MAX	OMIM:171300
HP:0032180	Abnormal circulating metabolite concentration	4149	MAX	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	7428	VHL	OMIM:171300
HP:0032180	Abnormal circulating metabolite concentration	7428	VHL	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	7428	VHL	ORPHA:276621
HP:0032180	Abnormal circulating metabolite concentration	1743	DLST	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	4191	MDH2	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	23095	KIF1B	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	2271	FH	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	8402	SLC25A11	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	54949	SDHAF2	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	4763	NF1	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	6391	SDHC	ORPHA:29072
HP:0032180	Abnormal circulating metabolite concentration	64324	NSD1	ORPHA:821
HP:0032180	Abnormal circulating metabolite concentration	29072	SETD2	ORPHA:821
HP:0032180	Abnormal circulating metabolite concentration	10297	APC2	ORPHA:821
HP:0032180	Abnormal circulating metabolite concentration	249	ALPL	OMIM:241500
HP:0032180	Abnormal circulating metabolite concentration	7204	TRIO	ORPHA:476126
HP:0032180	Abnormal circulating metabolite concentration	1027	CDKN1B	ORPHA:652
HP:0032180	Abnormal circulating metabolite concentration	1027	CDKN1B	ORPHA:276152
HP:0032180	Abnormal circulating metabolite concentration	1026	CDKN1A	ORPHA:652
HP:0032180	Abnormal circulating metabolite concentration	1030	CDKN2B	ORPHA:652
HP:0032180	Abnormal circulating metabolite concentration	1031	CDKN2C	ORPHA:652
HP:0032180	Abnormal circulating metabolite concentration	4854	NOTCH3	ORPHA:2591
HP:0032180	Abnormal circulating metabolite concentration	5159	PDGFRB	ORPHA:2591
HP:0032180	Abnormal circulating metabolite concentration	9365	KL	OMIM:617994
HP:0032180	Abnormal circulating metabolite concentration	5286	PIK3C2A	OMIM:618440
HP:0032180	Abnormal circulating metabolite concentration	5286	PIK3C2A	ORPHA:557003
HP:0032180	Abnormal circulating metabolite concentration	2591	GALNT3	OMIM:211900
HP:0032180	Abnormal circulating metabolite concentration	1788	DNMT3A	ORPHA:276621
HP:0032180	Abnormal circulating metabolite concentration	2034	EPAS1	ORPHA:276621
HP:0032180	Abnormal circulating metabolite concentration	2767	GNA11	OMIM:145981
HP:0032180	Abnormal circulating metabolite concentration	1591	CYP24A1	OMIM:143880
HP:0032180	Abnormal circulating metabolite concentration	1028	CDKN1C	OMIM:614732
HP:0032180	Abnormal circulating metabolite concentration	56244	BTNL2	ORPHA:797
HP:0032180	Abnormal circulating metabolite concentration	3123	HLA-DRB1	ORPHA:797
HP:0032180	Abnormal circulating metabolite concentration	10785	WDR4	OMIM:618347
HP:0032180	Abnormal circulating metabolite concentration	55746	NUP133	OMIM:618349
HP:0032180	Abnormal circulating metabolite concentration	55746	NUP133	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	84942	WDR73	OMIM:251300
HP:0032180	Abnormal circulating metabolite concentration	58484	NLRC4	OMIM:616050
HP:0032180	Abnormal circulating metabolite concentration	23395	LARS2	OMIM:617021
HP:0032180	Abnormal circulating metabolite concentration	162	AP1B1	OMIM:242150
HP:0032180	Abnormal circulating metabolite concentration	396	ARHGDIA	OMIM:615244
HP:0032180	Abnormal circulating metabolite concentration	396	ARHGDIA	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	65082	VPS33A	OMIM:617303
HP:0032180	Abnormal circulating metabolite concentration	65082	VPS33A	ORPHA:505248
HP:0032180	Abnormal circulating metabolite concentration	3459	IFNGR1	OMIM:209950
HP:0032180	Abnormal circulating metabolite concentration	8526	DGKE	OMIM:615008
HP:0032180	Abnormal circulating metabolite concentration	4068	SH2D1A	OMIM:308240
HP:0032180	Abnormal circulating metabolite concentration	23607	CD2AP	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	9688	NUP93	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	4643	MYO1E	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	4643	MYO1E	OMIM:614131
HP:0032180	Abnormal circulating metabolite concentration	26130	GAPVD1	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	7490	WT1	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	51479	ANKFY1	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	54443	ANLN	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	5800	PTPRO	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	5800	PTPRO	OMIM:614196
HP:0032180	Abnormal circulating metabolite concentration	286204	CRB2	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	23165	NUP205	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	2013	EMP2	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	79023	NUP37	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	51196	PLCE1	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	51196	PLCE1	OMIM:610725
HP:0032180	Abnormal circulating metabolite concentration	79902	NUP85	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	79934	COQ8B	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	79934	COQ8B	OMIM:615573
HP:0032180	Abnormal circulating metabolite concentration	23279	NUP160	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	9863	MAGI2	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	9863	MAGI2	OMIM:617609
HP:0032180	Abnormal circulating metabolite concentration	7225	TRPC6	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	8542	APOL1	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	54885	TBC1D8B	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	83478	ARHGAP24	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	23500	DAAM2	ORPHA:656
HP:0032180	Abnormal circulating metabolite concentration	2859	GPR35	ORPHA:171
HP:0032180	Abnormal circulating metabolite concentration	10507	SEMA4D	ORPHA:171
HP:0032180	Abnormal circulating metabolite concentration	4485	MST1	ORPHA:171
HP:0032180	Abnormal circulating metabolite concentration	6925	TCF4	ORPHA:171
HP:0032180	Abnormal circulating metabolite concentration	4089	SMAD4	OMIM:174900
HP:0032180	Abnormal circulating metabolite concentration	657	BMPR1A	OMIM:174900
HP:0032180	Abnormal circulating metabolite concentration	657	BMPR1A	ORPHA:79076
HP:0032180	Abnormal circulating metabolite concentration	6578	SLCO2A1	OMIM:614441
HP:0032180	Abnormal circulating metabolite concentration	3394	IRF8	OMIM:226990
HP:0032180	Abnormal circulating metabolite concentration	26007	TKFC	OMIM:618805
HP:0032180	Abnormal circulating metabolite concentration	1717	DHCR7	OMIM:270400
HP:0032180	Abnormal circulating metabolite concentration	5728	PTEN	ORPHA:79076
HP:0032180	Abnormal circulating metabolite concentration	950	SCARB2	OMIM:254900
HP:0032180	Abnormal circulating metabolite concentration	79053	ALG8	OMIM:608104
HP:0032180	Abnormal circulating metabolite concentration	55644	OSGEP	OMIM:617729
HP:0032180	Abnormal circulating metabolite concentration	5373	PMM2	OMIM:212065
HP:0032180	Abnormal circulating metabolite concentration	5373	PMM2	ORPHA:79318
HP:0032180	Abnormal circulating metabolite concentration	10056	FARSB	OMIM:613658
HP:0032180	Abnormal circulating metabolite concentration	2335	FN1	ORPHA:84090
HP:0032180	Abnormal circulating metabolite concentration	3675	ITGA3	OMIM:614748
HP:0032180	Abnormal circulating metabolite concentration	56052	ALG1	ORPHA:79327
HP:0032180	Abnormal circulating metabolite concentration	100147744	RNU7-1	OMIM:619487
HP:0032180	Abnormal circulating metabolite concentration	4351	MPI	ORPHA:79319
HP:0032180	Abnormal circulating metabolite concentration	4351	MPI	OMIM:602579
HP:0032180	Abnormal circulating metabolite concentration	57107	PDSS2	ORPHA:255249
HP:0032180	Abnormal circulating metabolite concentration	57107	PDSS2	OMIM:614652
HP:0032180	Abnormal circulating metabolite concentration	2072	ERCC4	OMIM:610965
HP:0032180	Abnormal circulating metabolite concentration	147372	CCBE1	OMIM:235510
HP:0032180	Abnormal circulating metabolite concentration	79087	ALG12	ORPHA:79324
HP:0032180	Abnormal circulating metabolite concentration	9451	EIF2AK3	ORPHA:1667
HP:0032180	Abnormal circulating metabolite concentration	3852	KRT5	ORPHA:79396
HP:0032180	Abnormal circulating metabolite concentration	3861	KRT14	ORPHA:79396
HP:0032180	Abnormal circulating metabolite concentration	9722	NOS1AP	OMIM:619155
HP:0032180	Abnormal circulating metabolite concentration	3913	LAMB2	OMIM:609049
HP:0032180	Abnormal circulating metabolite concentration	64421	DCLRE1C	OMIM:603554
HP:0032180	Abnormal circulating metabolite concentration	5896	RAG1	OMIM:603554
HP:0032180	Abnormal circulating metabolite concentration	5897	RAG2	OMIM:603554
HP:0032180	Abnormal circulating metabolite concentration	1604	CD55	OMIM:226300
HP:0032180	Abnormal circulating metabolite concentration	5651	TMPRSS15	OMIM:226200
HP:0032180	Abnormal circulating metabolite concentration	10269	ZMPSTE24	OMIM:608612
HP:0032180	Abnormal circulating metabolite concentration	10269	ZMPSTE24	ORPHA:90154
HP:0032180	Abnormal circulating metabolite concentration	5566	PRKACA	ORPHA:189439
HP:0032180	Abnormal circulating metabolite concentration	8622	PDE8B	ORPHA:189439
HP:0032180	Abnormal circulating metabolite concentration	5573	PRKAR1A	ORPHA:189439
HP:0032180	Abnormal circulating metabolite concentration	50940	PDE11A	ORPHA:189439
HP:0032180	Abnormal circulating metabolite concentration	80067	DCAF17	ORPHA:3464
HP:0032180	Abnormal circulating metabolite concentration	80067	DCAF17	OMIM:241080
HP:0032180	Abnormal circulating metabolite concentration	81	ACTN4	OMIM:603278
HP:0032180	Abnormal circulating metabolite concentration	50485	SMARCAL1	ORPHA:1830
HP:0032180	Abnormal circulating metabolite concentration	79798	ARMC5	ORPHA:189427
HP:0032180	Abnormal circulating metabolite concentration	2998	GYS2	ORPHA:2089
HP:0032180	Abnormal circulating metabolite concentration	7827	NPHS2	OMIM:600995
HP:0032180	Abnormal circulating metabolite concentration	4644	MYO5A	ORPHA:79476
HP:0032180	Abnormal circulating metabolite concentration	3075	CFH	OMIM:235400
HP:0032180	Abnormal circulating metabolite concentration	3078	CFHR1	OMIM:235400
HP:0032180	Abnormal circulating metabolite concentration	10878	CFHR3	OMIM:235400
HP:0032180	Abnormal circulating metabolite concentration	5873	RAB27A	ORPHA:79477
HP:0032180	Abnormal circulating metabolite concentration	1588	CYP19A1	ORPHA:91
HP:0032180	Abnormal circulating metabolite concentration	1718	DHCR24	OMIM:602398
HP:0032180	Abnormal circulating metabolite concentration	3064	HTT	ORPHA:399
HP:0032180	Abnormal circulating metabolite concentration	6515	SLC2A3	ORPHA:399
HP:0032180	Abnormal circulating metabolite concentration	1583	CYP11A1	ORPHA:289548
HP:0032180	Abnormal circulating metabolite concentration	1583	CYP11A1	ORPHA:168558
HP:0032180	Abnormal circulating metabolite concentration	1593	CYP27A1	OMIM:213700
HP:0032180	Abnormal circulating metabolite concentration	9420	CYP7B1	OMIM:270800
HP:0032180	Abnormal circulating metabolite concentration	50814	NSDHL	ORPHA:251383
HP:0032180	Abnormal circulating metabolite concentration	6309	SC5D	OMIM:607330
HP:0032180	Abnormal circulating metabolite concentration	3909	LAMA3	ORPHA:79404
HP:0032180	Abnormal circulating metabolite concentration	3918	LAMC2	ORPHA:79404
HP:0032180	Abnormal circulating metabolite concentration	3914	LAMB3	ORPHA:79404
HP:0032180	Abnormal circulating metabolite concentration	50943	FOXP3	ORPHA:37042
HP:0032180	Abnormal circulating metabolite concentration	10916	MAGED2	OMIM:300971
HP:0032180	Abnormal circulating metabolite concentration	6557	SLC12A1	OMIM:601678
HP:0032180	Abnormal circulating metabolite concentration	7809	BSND	ORPHA:89938
HP:0032180	Abnormal circulating metabolite concentration	7809	BSND	OMIM:602522
HP:0032180	Abnormal circulating metabolite concentration	1188	CLCNKB	ORPHA:89938
HP:0032180	Abnormal circulating metabolite concentration	1188	CLCNKB	OMIM:613090
HP:0032180	Abnormal circulating metabolite concentration	1187	CLCNKA	ORPHA:89938
HP:0032180	Abnormal circulating metabolite concentration	1187	CLCNKA	OMIM:613090
HP:0032180	Abnormal circulating metabolite concentration	1811	SLC26A3	OMIM:214700
HP:0032180	Abnormal circulating metabolite concentration	3758	KCNJ1	OMIM:241200
HP:0032180	Abnormal circulating metabolite concentration	3594	IL12RB1	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	23534	TNPO3	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	3592	IL12A	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	6689	SPIB	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	5450	POU2AF1	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	9966	TNFSF15	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	79258	MMEL1	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	3663	IRF5	ORPHA:186
HP:0032180	Abnormal circulating metabolite concentration	84823	LMNB2	OMIM:608709
HP:0032180	Abnormal circulating metabolite concentration	2200	FBN1	ORPHA:2833
HP:0032180	Abnormal circulating metabolite concentration	93627	TBCK	ORPHA:488632
HP:0032180	Abnormal circulating metabolite concentration	2717	GLA	ORPHA:324
HP:0032180	Abnormal circulating metabolite concentration	26160	IFT172	OMIM:619471
HP:0032180	Abnormal circulating metabolite concentration	388015	RTL1	ORPHA:254531
HP:0032180	Abnormal circulating metabolite concentration	388015	RTL1	ORPHA:96184
HP:0032180	Abnormal circulating metabolite concentration	8788	DLK1	ORPHA:254531
HP:0032180	Abnormal circulating metabolite concentration	8788	DLK1	ORPHA:96184
HP:0032180	Abnormal circulating metabolite concentration	55384	MEG3	ORPHA:254531
HP:0032180	Abnormal circulating metabolite concentration	55384	MEG3	ORPHA:96184
HP:0032180	Abnormal circulating metabolite concentration	64240	ABCG5	OMIM:618666
HP:0032180	Abnormal circulating metabolite concentration	64240	ABCG5	ORPHA:391665
HP:0032180	Abnormal circulating metabolite concentration	57122	NUP107	OMIM:618348
HP:0032180	Abnormal circulating metabolite concentration	57122	NUP107	OMIM:616730
HP:0032180	Abnormal circulating metabolite concentration	55775	TDP1	ORPHA:94124
HP:0032180	Abnormal circulating metabolite concentration	55775	TDP1	OMIM:607250
HP:0032180	Abnormal circulating metabolite concentration	4023	LPL	OMIM:238600
HP:0032180	Abnormal circulating metabolite concentration	4023	LPL	OMIM:144250
HP:0032180	Abnormal circulating metabolite concentration	5244	ABCB4	ORPHA:69663
HP:0032180	Abnormal circulating metabolite concentration	4205	MEF2A	OMIM:608320
HP:0032180	Abnormal circulating metabolite concentration	7252	TSHB	ORPHA:90674
HP:0032180	Abnormal circulating metabolite concentration	3949	LDLR	ORPHA:391665
HP:0032180	Abnormal circulating metabolite concentration	255738	PCSK9	ORPHA:391665
HP:0032180	Abnormal circulating metabolite concentration	255738	PCSK9	OMIM:603776
HP:0032180	Abnormal circulating metabolite concentration	64241	ABCG8	ORPHA:391665
HP:0032180	Abnormal circulating metabolite concentration	64241	ABCG8	OMIM:210250
HP:0032180	Abnormal circulating metabolite concentration	25839	COG4	ORPHA:263501
HP:0032180	Abnormal circulating metabolite concentration	79989	IFT56	OMIM:619534
HP:0032180	Abnormal circulating metabolite concentration	11284	PNKP	OMIM:616267
HP:0032180	Abnormal circulating metabolite concentration	537	ATP6AP1	OMIM:300972
HP:0032180	Abnormal circulating metabolite concentration	1733	DIO1	OMIM:619855
HP:0032180	Abnormal circulating metabolite concentration	147007	TMEM199	OMIM:616829
HP:0032180	Abnormal circulating metabolite concentration	1071	CETP	ORPHA:79506
HP:0032180	Abnormal circulating metabolite concentration	345	APOC3	ORPHA:79506
HP:0032180	Abnormal circulating metabolite concentration	6907	TBL1X	OMIM:301033
HP:0032180	Abnormal circulating metabolite concentration	113220	KIF12	OMIM:619662
HP:0032180	Abnormal circulating metabolite concentration	8694	DGAT1	OMIM:615863
HP:0032180	Abnormal circulating metabolite concentration	4645	MYO5B	OMIM:619868
HP:0032180	Abnormal circulating metabolite concentration	55186	SLC25A36	OMIM:620211
HP:0032180	Abnormal circulating metabolite concentration	2690	GHR	ORPHA:633
HP:0032180	Abnormal circulating metabolite concentration	2584	GALK1	ORPHA:79237
HP:0032180	Abnormal circulating metabolite concentration	8518	ELP1	OMIM:223900
HP:0032180	Abnormal circulating metabolite concentration	1621	DBH	ORPHA:230
HP:0032180	Abnormal circulating metabolite concentration	1621	DBH	OMIM:223360
HP:0032180	Abnormal circulating metabolite concentration	51081	MRPS7	OMIM:617872
HP:0032180	Abnormal circulating metabolite concentration	11093	ADAMTS13	OMIM:274150
HP:0032180	Abnormal circulating metabolite concentration	4179	CD46	OMIM:612922
HP:0032180	Abnormal circulating metabolite concentration	629	CFB	OMIM:612924
HP:0032180	Abnormal circulating metabolite concentration	3426	CFI	OMIM:612923
HP:0032180	Abnormal circulating metabolite concentration	7056	THBD	OMIM:612926
HP:0032180	Abnormal circulating metabolite concentration	718	C3	OMIM:612925
HP:0032180	Abnormal circulating metabolite concentration	22909	FAN1	OMIM:614817
HP:0032180	Abnormal circulating metabolite concentration	1161	ERCC8	ORPHA:90321
HP:0032180	Abnormal circulating metabolite concentration	2074	ERCC6	ORPHA:90321
HP:0032180	Abnormal circulating metabolite concentration	336	APOA2	OMIM:143890
HP:0032180	Abnormal circulating metabolite concentration	2053	EPHX2	OMIM:143890
HP:0032180	Abnormal circulating metabolite concentration	10842	PPP1R17	OMIM:143890
HP:0032180	Abnormal circulating metabolite concentration	20	ABCA2	OMIM:618808
HP:0032180	Abnormal circulating metabolite concentration	80270	HSD3B7	OMIM:607765
HP:0032180	Abnormal circulating metabolite concentration	89910	UBE3B	OMIM:244450
HP:0032180	Abnormal circulating metabolite concentration	5193	PEX12	OMIM:266510
HP:0032180	Abnormal circulating metabolite concentration	5406	PNLIP	OMIM:614338
HP:0032180	Abnormal circulating metabolite concentration	55210	ATAD3A	OMIM:618810
HP:0032180	Abnormal circulating metabolite concentration	201163	FLCN	OMIM:610883
HP:0032180	Abnormal circulating metabolite concentration	5660	PSAP	OMIM:610539
HP:0032180	Abnormal circulating metabolite concentration	435	ASL	ORPHA:23
HP:0032180	Abnormal circulating metabolite concentration	435	ASL	OMIM:207900
HP:0032180	Abnormal circulating metabolite concentration	445	ASS1	OMIM:215700
HP:0032180	Abnormal circulating metabolite concentration	2744	GLS	OMIM:618412
HP:0032180	Abnormal circulating metabolite concentration	6850	SYK	OMIM:619381
HP:0032180	Abnormal circulating metabolite concentration	554	AVPR2	ORPHA:223
HP:0032180	Abnormal circulating metabolite concentration	554	AVPR2	OMIM:304800
HP:0032180	Abnormal circulating metabolite concentration	359	AQP2	ORPHA:223
HP:0032180	Abnormal circulating metabolite concentration	359	AQP2	OMIM:125800
HP:0032180	Abnormal circulating metabolite concentration	2260	FGFR1	OMIM:615465
HP:0032180	Abnormal circulating metabolite concentration	763	CA5A	OMIM:615751
HP:0032180	Abnormal circulating metabolite concentration	1828	DSG1	OMIM:615508
HP:0032180	Abnormal circulating metabolite concentration	9915	ARNT2	OMIM:615926
HP:0032180	Abnormal circulating metabolite concentration	6523	SLC5A1	ORPHA:35710
HP:0032180	Abnormal circulating metabolite concentration	3242	HPD	OMIM:276710
HP:0032180	Abnormal circulating metabolite concentration	3242	HPD	OMIM:140350
HP:0032180	Abnormal circulating metabolite concentration	6898	TAT	OMIM:276600
HP:0032180	Abnormal circulating metabolite concentration	617	BCS1L	OMIM:124000
HP:0032180	Abnormal circulating metabolite concentration	9056	SLC7A7	ORPHA:470
HP:0032180	Abnormal circulating metabolite concentration	6609	SMPD1	ORPHA:77293
HP:0032180	Abnormal circulating metabolite concentration	6609	SMPD1	OMIM:607616
HP:0032180	Abnormal circulating metabolite concentration	63036	CELA2A	OMIM:618620
HP:0032180	Abnormal circulating metabolite concentration	2590	GALNT2	OMIM:618885
HP:0032180	Abnormal circulating metabolite concentration	335	APOA1	OMIM:618463
HP:0032180	Abnormal circulating metabolite concentration	335	APOA1	OMIM:619836
HP:0032180	Abnormal circulating metabolite concentration	335	APOA1	ORPHA:425
HP:0032180	Abnormal circulating metabolite concentration	3988	LIPA	OMIM:278000
HP:0032180	Abnormal circulating metabolite concentration	19	ABCA1	OMIM:604091
HP:0032180	Abnormal circulating metabolite concentration	19	ABCA1	OMIM:205400
HP:0032180	Abnormal circulating metabolite concentration	19	ABCA1	ORPHA:425
HP:0032180	Abnormal circulating metabolite concentration	338	APOB	OMIM:615558
HP:0032180	Abnormal circulating metabolite concentration	7840	ALMS1	OMIM:203800
HP:0032180	Abnormal circulating metabolite concentration	4547	MTTP	ORPHA:14
HP:0032180	Abnormal circulating metabolite concentration	3931	LCAT	OMIM:245900
HP:0032180	Abnormal circulating metabolite concentration	3931	LCAT	OMIM:136120
HP:0032180	Abnormal circulating metabolite concentration	3931	LCAT	ORPHA:79292
HP:0032180	Abnormal circulating metabolite concentration	5468	PPARG	OMIM:604367
HP:0032180	Abnormal circulating metabolite concentration	84699	CREB3L3	OMIM:619324
HP:0032180	Abnormal circulating metabolite concentration	116519	APOA5	OMIM:144650
HP:0032180	Abnormal circulating metabolite concentration	84984	CEP19	OMIM:615703
HP:0032180	Abnormal circulating metabolite concentration	6307	MSMO1	OMIM:616834
HP:0032180	Abnormal circulating metabolite concentration	5696	PSMB8	OMIM:256040
HP:0032180	Abnormal circulating metabolite concentration	338328	GPIHBP1	OMIM:615947
HP:0032180	Abnormal circulating metabolite concentration	348	APOE	ORPHA:412
HP:0032180	Abnormal circulating metabolite concentration	1497	CTNS	OMIM:219800
HP:0032180	Abnormal circulating metabolite concentration	1738	DLD	ORPHA:2394
HP:0032180	Abnormal circulating metabolite concentration	3155	HMGCL	OMIM:246450
HP:0032180	Abnormal circulating metabolite concentration	4556	MT-TE	ORPHA:254864
HP:0032180	Abnormal circulating metabolite concentration	55687	TRMU	ORPHA:254864
HP:0032180	Abnormal circulating metabolite concentration	4695	NDUFA2	OMIM:618235
HP:0032180	Abnormal circulating metabolite concentration	1294	COL7A1	ORPHA:89842
HP:0032180	Abnormal circulating metabolite concentration	27034	ACAD8	OMIM:611283
HP:0032180	Abnormal circulating metabolite concentration	27034	ACAD8	ORPHA:79159
HP:0032180	Abnormal circulating metabolite concentration	133686	NADK2	ORPHA:431361
HP:0032180	Abnormal circulating metabolite concentration	3033	HADH	ORPHA:71212
HP:0032180	Abnormal circulating metabolite concentration	28976	ACAD9	ORPHA:99901
HP:0032180	Abnormal circulating metabolite concentration	64087	MCCC2	OMIM:210210
HP:0032180	Abnormal circulating metabolite concentration	1962	EHHADH	ORPHA:3337
HP:0032180	Abnormal circulating metabolite concentration	2628	GATM	ORPHA:3337
HP:0032180	Abnormal circulating metabolite concentration	137682	NDUFAF6	ORPHA:3337
HP:0032180	Abnormal circulating metabolite concentration	6569	SLC34A1	ORPHA:3337
HP:0032180	Abnormal circulating metabolite concentration	191	AHCY	OMIM:613752
HP:0032180	Abnormal circulating metabolite concentration	191	AHCY	ORPHA:88618
HP:0032180	Abnormal circulating metabolite concentration	10165	SLC25A13	OMIM:605814
HP:0032180	Abnormal circulating metabolite concentration	10165	SLC25A13	ORPHA:247598
HP:0032180	Abnormal circulating metabolite concentration	132	ADK	OMIM:614300
HP:0032180	Abnormal circulating metabolite concentration	875	CBS	OMIM:236200
HP:0032180	Abnormal circulating metabolite concentration	4143	MAT1A	OMIM:250850
HP:0032180	Abnormal circulating metabolite concentration	2184	FAH	OMIM:276700
HP:0032180	Abnormal circulating metabolite concentration	27232	GNMT	OMIM:606664
HP:0032180	Abnormal circulating metabolite concentration	9652	SKIC3	OMIM:222470
HP:0032180	Abnormal circulating metabolite concentration	7019	TFAM	OMIM:617156
HP:0032180	Abnormal circulating metabolite concentration	9015	TAF1A	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	5663	PSEN1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	6389	SDHA	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7112	TMPO	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	9464	HAND2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	4625	MYH7	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	4625	MYH7	OMIM:160500
HP:0032180	Abnormal circulating metabolite concentration	4625	MYH7	OMIM:255160
HP:0032180	Abnormal circulating metabolite concentration	4625	MYH7	ORPHA:437572
HP:0032180	Abnormal circulating metabolite concentration	88	ACTN2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	88	ACTN2	OMIM:618655
HP:0032180	Abnormal circulating metabolite concentration	10486	CAP2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	10060	ABCC9	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7168	TPM1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7414	VCL	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1832	DSP	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	70	ACTC1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	27063	ANKRD1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	8048	CSRP3	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1410	CRYAB	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1410	CRYAB	OMIM:608810
HP:0032180	Abnormal circulating metabolite concentration	1410	CRYAB	OMIM:615184
HP:0032180	Abnormal circulating metabolite concentration	1410	CRYAB	OMIM:613869
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	OMIM:181350
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	OMIM:613205
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	ORPHA:98855
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	ORPHA:98853
HP:0032180	Abnormal circulating metabolite concentration	4000	LMNA	OMIM:616516
HP:0032180	Abnormal circulating metabolite concentration	7139	TNNT2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1829	DSG2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	3910	LAMA4	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	63976	PRDM16	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7273	TTN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7273	TTN	OMIM:608807
HP:0032180	Abnormal circulating metabolite concentration	7273	TTN	OMIM:603689
HP:0032180	Abnormal circulating metabolite concentration	7273	TTN	OMIM:611705
HP:0032180	Abnormal circulating metabolite concentration	7273	TTN	ORPHA:178464
HP:0032180	Abnormal circulating metabolite concentration	10587	TXNRD2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	9531	BAG3	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	9531	BAG3	OMIM:612954
HP:0032180	Abnormal circulating metabolite concentration	5350	PLN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	91624	NEXN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	79717	PPCS	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	5664	PSEN2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	4624	MYH6	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	9529	BAG5	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	4607	MYBPC3	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	282996	RBM20	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7137	TNNI3	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	11155	LDB3	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	11155	LDB3	OMIM:609452
HP:0032180	Abnormal circulating metabolite concentration	2274	FHL2	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	6901	TAFAZZIN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	22845	DOLK	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	5894	RAF1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	OMIM:310200
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	ORPHA:98895
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	ORPHA:98896
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	ORPHA:206546
HP:0032180	Abnormal circulating metabolite concentration	1756	DMD	OMIM:300376
HP:0032180	Abnormal circulating metabolite concentration	57798	GATAD1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	7134	TNNC1	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	84665	MYPN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1674	DES	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	1674	DES	OMIM:604765
HP:0032180	Abnormal circulating metabolite concentration	6444	SGCD	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	6444	SGCD	OMIM:601287
HP:0032180	Abnormal circulating metabolite concentration	6444	SGCD	OMIM:606685
HP:0032180	Abnormal circulating metabolite concentration	6331	SCN5A	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	OMIM:236670
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	OMIM:611615
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	OMIM:253800
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	OMIM:611588
HP:0032180	Abnormal circulating metabolite concentration	2218	FKTN	OMIM:613152
HP:0032180	Abnormal circulating metabolite concentration	8557	TCAP	ORPHA:154
HP:0032180	Abnormal circulating metabolite concentration	8557	TCAP	OMIM:601954
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	OMIM:615350
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	OMIM:615351
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	OMIM:615352
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	ORPHA:370968
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	ORPHA:353327
HP:0032180	Abnormal circulating metabolite concentration	29925	GMPPB	ORPHA:363623
HP:0032180	Abnormal circulating metabolite concentration	3094	HINT1	ORPHA:324442
HP:0032180	Abnormal circulating metabolite concentration	3094	HINT1	OMIM:137200
HP:0032180	Abnormal circulating metabolite concentration	8106	PABPN1	ORPHA:270
HP:0032180	Abnormal circulating metabolite concentration	8106	PABPN1	OMIM:164300
HP:0032180	Abnormal circulating metabolite concentration	7415	VCP	OMIM:616687
HP:0032180	Abnormal circulating metabolite concentration	7415	VCP	OMIM:167320
HP:0032180	Abnormal circulating metabolite concentration	7415	VCP	ORPHA:435387
HP:0032180	Abnormal circulating metabolite concentration	7415	VCP	OMIM:613954
HP:0032180	Abnormal circulating metabolite concentration	7415	VCP	ORPHA:52430
HP:0032180	Abnormal circulating metabolite concentration	60684	TRAPPC11	OMIM:615356
HP:0032180	Abnormal circulating metabolite concentration	400916	CHCHD10	OMIM:616209
HP:0032180	Abnormal circulating metabolite concentration	400916	CHCHD10	OMIM:615048
HP:0032180	Abnormal circulating metabolite concentration	400916	CHCHD10	ORPHA:276435
HP:0032180	Abnormal circulating metabolite concentration	5361	PLXNA1	OMIM:619955
HP:0032180	Abnormal circulating metabolite concentration	55733	HHAT	OMIM:600092
HP:0032180	Abnormal circulating metabolite concentration	8291	DYSF	OMIM:253601
HP:0032180	Abnormal circulating metabolite concentration	8291	DYSF	ORPHA:268
HP:0032180	Abnormal circulating metabolite concentration	8291	DYSF	OMIM:254130
HP:0032180	Abnormal circulating metabolite concentration	8291	DYSF	OMIM:606768
HP:0032180	Abnormal circulating metabolite concentration	825	CAPN3	OMIM:253600
HP:0032180	Abnormal circulating metabolite concentration	825	CAPN3	ORPHA:267
HP:0032180	Abnormal circulating metabolite concentration	825	CAPN3	OMIM:618129
HP:0032180	Abnormal circulating metabolite concentration	22947	DUX4L1	ORPHA:269
HP:0032180	Abnormal circulating metabolite concentration	1789	DNMT3B	ORPHA:269
HP:0032180	Abnormal circulating metabolite concentration	2483	FRG1	ORPHA:269
HP:0032180	Abnormal circulating metabolite concentration	2483	FRG1	OMIM:158900
HP:0032180	Abnormal circulating metabolite concentration	23347	SMCHD1	ORPHA:269
HP:0032180	Abnormal circulating metabolite concentration	100288687	DUX4	ORPHA:269
HP:0032180	Abnormal circulating metabolite concentration	9499	MYOT	ORPHA:266
HP:0032180	Abnormal circulating metabolite concentration	9499	MYOT	OMIM:609200
HP:0032180	Abnormal circulating metabolite concentration	9499	MYOT	ORPHA:98911
HP:0032180	Abnormal circulating metabolite concentration	5339	PLEC	ORPHA:254361
HP:0032180	Abnormal circulating metabolite concentration	5339	PLEC	OMIM:613723
HP:0032180	Abnormal circulating metabolite concentration	5339	PLEC	ORPHA:158684
HP:0032180	Abnormal circulating metabolite concentration	3074	HEXB	ORPHA:309169
HP:0032180	Abnormal circulating metabolite concentration	1785	DNM2	OMIM:615368
HP:0032180	Abnormal circulating metabolite concentration	84466	MEGF10	OMIM:614399
HP:0032180	Abnormal circulating metabolite concentration	84197	POMK	OMIM:615249
HP:0032180	Abnormal circulating metabolite concentration	84197	POMK	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	84197	POMK	OMIM:616094
HP:0032180	Abnormal circulating metabolite concentration	22954	TRIM32	ORPHA:1878
HP:0032180	Abnormal circulating metabolite concentration	22954	TRIM32	OMIM:254110
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	OMIM:606612
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	ORPHA:34515
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	OMIM:236670
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	ORPHA:370968
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	OMIM:607155
HP:0032180	Abnormal circulating metabolite concentration	79147	FKRP	OMIM:613153
HP:0032180	Abnormal circulating metabolite concentration	55154	MSTO1	OMIM:617675
HP:0032180	Abnormal circulating metabolite concentration	311	ANXA11	OMIM:619733
HP:0032180	Abnormal circulating metabolite concentration	6445	SGCG	OMIM:253700
HP:0032180	Abnormal circulating metabolite concentration	6445	SGCG	ORPHA:353
HP:0032180	Abnormal circulating metabolite concentration	1605	DAG1	ORPHA:280333
HP:0032180	Abnormal circulating metabolite concentration	1605	DAG1	ORPHA:370997
HP:0032180	Abnormal circulating metabolite concentration	1605	DAG1	OMIM:613818
HP:0032180	Abnormal circulating metabolite concentration	1605	DAG1	OMIM:616538
HP:0032180	Abnormal circulating metabolite concentration	1303	COL12A1	OMIM:616471
HP:0032180	Abnormal circulating metabolite concentration	1303	COL12A1	ORPHA:610
HP:0032180	Abnormal circulating metabolite concentration	1303	COL12A1	ORPHA:75840
HP:0032180	Abnormal circulating metabolite concentration	7386	UQCRFS1	OMIM:618775
HP:0032180	Abnormal circulating metabolite concentration	5442	POLRMT	OMIM:619743
HP:0032180	Abnormal circulating metabolite concentration	83636	C19orf12	OMIM:614298
HP:0032180	Abnormal circulating metabolite concentration	5224	PGAM2	OMIM:261670
HP:0032180	Abnormal circulating metabolite concentration	844	CASQ1	OMIM:616231
HP:0032180	Abnormal circulating metabolite concentration	844	CASQ1	ORPHA:88635
HP:0032180	Abnormal circulating metabolite concentration	246243	RNASEH1	OMIM:616479
HP:0032180	Abnormal circulating metabolite concentration	54840	APTX	OMIM:208920
HP:0032180	Abnormal circulating metabolite concentration	79731	NARS2	OMIM:616239
HP:0032180	Abnormal circulating metabolite concentration	284439	SLC25A42	OMIM:618416
HP:0032180	Abnormal circulating metabolite concentration	4359	MPZ	ORPHA:101082
HP:0032180	Abnormal circulating metabolite concentration	59341	TRPV4	OMIM:600175
HP:0032180	Abnormal circulating metabolite concentration	6261	RYR1	ORPHA:597
HP:0032180	Abnormal circulating metabolite concentration	6261	RYR1	OMIM:619542
HP:0032180	Abnormal circulating metabolite concentration	6261	RYR1	ORPHA:424107
HP:0032180	Abnormal circulating metabolite concentration	6261	RYR1	OMIM:145600
HP:0032180	Abnormal circulating metabolite concentration	6261	RYR1	ORPHA:466650
HP:0032180	Abnormal circulating metabolite concentration	1763	DNA2	OMIM:615156
HP:0032180	Abnormal circulating metabolite concentration	9453	GGPS1	OMIM:619518
HP:0032180	Abnormal circulating metabolite concentration	148789	B3GALNT2	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	148789	B3GALNT2	OMIM:615181
HP:0032180	Abnormal circulating metabolite concentration	9215	LARGE1	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	9215	LARGE1	OMIM:236670
HP:0032180	Abnormal circulating metabolite concentration	9215	LARGE1	ORPHA:370968
HP:0032180	Abnormal circulating metabolite concentration	9215	LARGE1	OMIM:608840
HP:0032180	Abnormal circulating metabolite concentration	9215	LARGE1	OMIM:613154
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	OMIM:236670
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	ORPHA:370968
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	ORPHA:206559
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	OMIM:613150
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	OMIM:613156
HP:0032180	Abnormal circulating metabolite concentration	29954	POMT2	OMIM:613158
HP:0032180	Abnormal circulating metabolite concentration	55624	POMGNT1	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	55624	POMGNT1	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	55624	POMGNT1	OMIM:253280
HP:0032180	Abnormal circulating metabolite concentration	55624	POMGNT1	OMIM:613151
HP:0032180	Abnormal circulating metabolite concentration	55624	POMGNT1	OMIM:613157
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	ORPHA:588
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	OMIM:236670
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	ORPHA:370968
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	ORPHA:370959
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	OMIM:609308
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	ORPHA:86812
HP:0032180	Abnormal circulating metabolite concentration	10585	POMT1	OMIM:613155
HP:0032180	Abnormal circulating metabolite concentration	8818	DPM2	OMIM:615042
HP:0032180	Abnormal circulating metabolite concentration	8818	DPM2	ORPHA:329178
HP:0032180	Abnormal circulating metabolite concentration	11041	B4GAT1	OMIM:615287
HP:0032180	Abnormal circulating metabolite concentration	56652	TWNK	OMIM:616138
HP:0032180	Abnormal circulating metabolite concentration	56652	TWNK	ORPHA:254892
HP:0032180	Abnormal circulating metabolite concentration	10342	TFG	ORPHA:90117
HP:0032180	Abnormal circulating metabolite concentration	10531	PITRM1	OMIM:619405
HP:0032180	Abnormal circulating metabolite concentration	2683	B4GALT1	ORPHA:79332
HP:0032180	Abnormal circulating metabolite concentration	2683	B4GALT1	OMIM:607091
HP:0032180	Abnormal circulating metabolite concentration	91949	COG7	ORPHA:79333
HP:0032180	Abnormal circulating metabolite concentration	91949	COG7	OMIM:608779
HP:0032180	Abnormal circulating metabolite concentration	57104	PNPLA2	OMIM:610717
HP:0032180	Abnormal circulating metabolite concentration	57104	PNPLA2	ORPHA:565612
HP:0032180	Abnormal circulating metabolite concentration	57724	EPG5	OMIM:242840
HP:0032180	Abnormal circulating metabolite concentration	23299	BICD2	OMIM:615290
HP:0032180	Abnormal circulating metabolite concentration	339855	KY	OMIM:617114
HP:0032180	Abnormal circulating metabolite concentration	56983	POGLUT1	OMIM:617232
HP:0032180	Abnormal circulating metabolite concentration	859	CAV3	OMIM:123320
HP:0032180	Abnormal circulating metabolite concentration	859	CAV3	ORPHA:206599
HP:0032180	Abnormal circulating metabolite concentration	859	CAV3	OMIM:606072
HP:0032180	Abnormal circulating metabolite concentration	859	CAV3	OMIM:614321
HP:0032180	Abnormal circulating metabolite concentration	5213	PFKM	OMIM:232800
HP:0032180	Abnormal circulating metabolite concentration	3339	HSPG2	OMIM:255800
HP:0032180	Abnormal circulating metabolite concentration	3339	HSPG2	ORPHA:800
HP:0032180	Abnormal circulating metabolite concentration	8813	DPM1	ORPHA:79322
HP:0032180	Abnormal circulating metabolite concentration	8813	DPM1	OMIM:608799
HP:0032180	Abnormal circulating metabolite concentration	9526	MPDU1	ORPHA:79323
HP:0032180	Abnormal circulating metabolite concentration	5837	PYGM	ORPHA:368
HP:0032180	Abnormal circulating metabolite concentration	5837	PYGM	OMIM:232600
HP:0032180	Abnormal circulating metabolite concentration	4633	MYL2	OMIM:619424
HP:0032180	Abnormal circulating metabolite concentration	5256	PHKA2	ORPHA:264580
HP:0032180	Abnormal circulating metabolite concentration	5261	PHKG2	ORPHA:264580
HP:0032180	Abnormal circulating metabolite concentration	51693	TRAPPC2L	OMIM:618331
HP:0032180	Abnormal circulating metabolite concentration	58497	PRUNE1	ORPHA:544469
HP:0032180	Abnormal circulating metabolite concentration	6443	SGCB	ORPHA:119
HP:0032180	Abnormal circulating metabolite concentration	6443	SGCB	OMIM:604286
HP:0032180	Abnormal circulating metabolite concentration	389827	MYMK	OMIM:254940
HP:0032180	Abnormal circulating metabolite concentration	8803	SUCLA2	ORPHA:1933
HP:0032180	Abnormal circulating metabolite concentration	8803	SUCLA2	OMIM:612073
HP:0032180	Abnormal circulating metabolite concentration	58	ACTA1	ORPHA:97240
HP:0032180	Abnormal circulating metabolite concentration	58	ACTA1	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	291	SLC25A4	ORPHA:254892
HP:0032180	Abnormal circulating metabolite concentration	291	SLC25A4	OMIM:615418
HP:0032180	Abnormal circulating metabolite concentration	5428	POLG	ORPHA:254892
HP:0032180	Abnormal circulating metabolite concentration	5428	POLG	OMIM:258450
HP:0032180	Abnormal circulating metabolite concentration	5428	POLG	ORPHA:254886
HP:0032180	Abnormal circulating metabolite concentration	11232	POLG2	ORPHA:254892
HP:0032180	Abnormal circulating metabolite concentration	11232	POLG2	OMIM:610131
HP:0032180	Abnormal circulating metabolite concentration	50484	RRM2B	ORPHA:254892
HP:0032180	Abnormal circulating metabolite concentration	353116	RILPL1	OMIM:619790
HP:0032180	Abnormal circulating metabolite concentration	10020	GNE	OMIM:605820
HP:0032180	Abnormal circulating metabolite concentration	23516	SLC39A14	OMIM:617013
HP:0032180	Abnormal circulating metabolite concentration	160418	TMTC3	OMIM:617255
HP:0032180	Abnormal circulating metabolite concentration	79912	PYROXD1	OMIM:617258
HP:0032180	Abnormal circulating metabolite concentration	203547	VMA21	OMIM:310440
HP:0032180	Abnormal circulating metabolite concentration	10102	TSFM	OMIM:610505
HP:0032180	Abnormal circulating metabolite concentration	6442	SGCA	OMIM:608099
HP:0032180	Abnormal circulating metabolite concentration	6442	SGCA	ORPHA:62
HP:0032180	Abnormal circulating metabolite concentration	10049	DNAJB6	OMIM:603511
HP:0032180	Abnormal circulating metabolite concentration	1120	CHKB	OMIM:602541
HP:0032180	Abnormal circulating metabolite concentration	7555	CNBP	OMIM:602668
HP:0032180	Abnormal circulating metabolite concentration	7084	TK2	ORPHA:254886
HP:0032180	Abnormal circulating metabolite concentration	7084	TK2	OMIM:617069
HP:0032180	Abnormal circulating metabolite concentration	7084	TK2	OMIM:609560
HP:0032180	Abnormal circulating metabolite concentration	3714	JAG2	OMIM:619566
HP:0032180	Abnormal circulating metabolite concentration	729920	CRPPA	OMIM:616052
HP:0032180	Abnormal circulating metabolite concentration	729920	CRPPA	OMIM:614643
HP:0032180	Abnormal circulating metabolite concentration	92667	MGME1	OMIM:615084
HP:0032180	Abnormal circulating metabolite concentration	92667	MGME1	ORPHA:352447
HP:0032180	Abnormal circulating metabolite concentration	8867	SYNJ1	OMIM:617389
HP:0032180	Abnormal circulating metabolite concentration	63895	PIEZO2	OMIM:617146
HP:0032180	Abnormal circulating metabolite concentration	3939	LDHA	OMIM:612933
HP:0032180	Abnormal circulating metabolite concentration	2027	ENO3	OMIM:612932
HP:0032180	Abnormal circulating metabolite concentration	54344	DPM3	OMIM:612937
HP:0032180	Abnormal circulating metabolite concentration	6904	TBCD	ORPHA:496641
HP:0032180	Abnormal circulating metabolite concentration	6904	TBCD	OMIM:617193
HP:0032180	Abnormal circulating metabolite concentration	427	ASAH1	OMIM:159950
HP:0032180	Abnormal circulating metabolite concentration	8878	SQSTM1	OMIM:617158
HP:0032180	Abnormal circulating metabolite concentration	513	ATP5F1D	OMIM:618120
HP:0032180	Abnormal circulating metabolite concentration	2010	EMD	OMIM:310300
HP:0032180	Abnormal circulating metabolite concentration	2010	EMD	ORPHA:98863
HP:0032180	Abnormal circulating metabolite concentration	6821	SUOX	OMIM:272300
HP:0032180	Abnormal circulating metabolite concentration	112812	FDX2	OMIM:251900
HP:0032180	Abnormal circulating metabolite concentration	6329	SCN4A	ORPHA:682
HP:0032180	Abnormal circulating metabolite concentration	6329	SCN4A	OMIM:608390
HP:0032180	Abnormal circulating metabolite concentration	84892	POMGNT2	OMIM:618135
HP:0032180	Abnormal circulating metabolite concentration	7317	UBA1	OMIM:301830
HP:0032180	Abnormal circulating metabolite concentration	58472	SQOR	OMIM:619221
HP:0032180	Abnormal circulating metabolite concentration	2992	GYG1	OMIM:616199
HP:0032180	Abnormal circulating metabolite concentration	390594	KBTBD13	OMIM:609273
HP:0032180	Abnormal circulating metabolite concentration	3908	LAMA2	OMIM:618138
HP:0032180	Abnormal circulating metabolite concentration	3908	LAMA2	OMIM:607855
HP:0032180	Abnormal circulating metabolite concentration	8398	PLA2G6	OMIM:612953
HP:0032180	Abnormal circulating metabolite concentration	8425	LTBP4	ORPHA:98896
HP:0032180	Abnormal circulating metabolite concentration	65260	COA7	OMIM:618387
HP:0032180	Abnormal circulating metabolite concentration	51241	COX16	OMIM:619355
HP:0032180	Abnormal circulating metabolite concentration	37	ACADVL	OMIM:201475
HP:0032180	Abnormal circulating metabolite concentration	37	ACADVL	ORPHA:26793
HP:0032180	Abnormal circulating metabolite concentration	55697	VAC14	OMIM:617054
HP:0032180	Abnormal circulating metabolite concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0032180	Abnormal circulating metabolite concentration	788	SLC25A20	OMIM:212138
HP:0032180	Abnormal circulating metabolite concentration	7504	XK	OMIM:300842
HP:0032180	Abnormal circulating metabolite concentration	23230	VPS13A	OMIM:200150
HP:0032180	Abnormal circulating metabolite concentration	23230	VPS13A	ORPHA:2388
HP:0032180	Abnormal circulating metabolite concentration	6786	STIM1	OMIM:185070
HP:0032180	Abnormal circulating metabolite concentration	6786	STIM1	OMIM:160565
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	OMIM:300718
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	OMIM:300717
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	OMIM:300696
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	OMIM:300695
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	ORPHA:98863
HP:0032180	Abnormal circulating metabolite concentration	2273	FHL1	OMIM:300280
HP:0032180	Abnormal circulating metabolite concentration	226	ALDOA	OMIM:611881
HP:0032180	Abnormal circulating metabolite concentration	3030	HADHA	OMIM:609015
HP:0032180	Abnormal circulating metabolite concentration	1291	COL6A1	ORPHA:610
HP:0032180	Abnormal circulating metabolite concentration	1291	COL6A1	OMIM:158810
HP:0032180	Abnormal circulating metabolite concentration	1291	COL6A1	ORPHA:75840
HP:0032180	Abnormal circulating metabolite concentration	1292	COL6A2	ORPHA:610
HP:0032180	Abnormal circulating metabolite concentration	1292	COL6A2	OMIM:158810
HP:0032180	Abnormal circulating metabolite concentration	1292	COL6A2	ORPHA:75840
HP:0032180	Abnormal circulating metabolite concentration	1292	COL6A2	OMIM:255600
HP:0032180	Abnormal circulating metabolite concentration	1293	COL6A3	ORPHA:610
HP:0032180	Abnormal circulating metabolite concentration	1293	COL6A3	OMIM:158810
HP:0032180	Abnormal circulating metabolite concentration	1293	COL6A3	ORPHA:75840
HP:0032180	Abnormal circulating metabolite concentration	26092	TOR1AIP1	OMIM:617072
HP:0032180	Abnormal circulating metabolite concentration	1716	DGUOK	OMIM:617070
HP:0032180	Abnormal circulating metabolite concentration	5236	PGM1	OMIM:614921
HP:0032180	Abnormal circulating metabolite concentration	1282	COL4A1	OMIM:611773
HP:0032180	Abnormal circulating metabolite concentration	1282	COL4A1	OMIM:175780
HP:0032180	Abnormal circulating metabolite concentration	1376	CPT2	ORPHA:228302
HP:0032180	Abnormal circulating metabolite concentration	1376	CPT2	ORPHA:228305
HP:0032180	Abnormal circulating metabolite concentration	1376	CPT2	ORPHA:228308
HP:0032180	Abnormal circulating metabolite concentration	1376	CPT2	OMIM:600649
HP:0032180	Abnormal circulating metabolite concentration	1376	CPT2	OMIM:608836
HP:0032180	Abnormal circulating metabolite concentration	779	CACNA1S	OMIM:620246
HP:0032180	Abnormal circulating metabolite concentration	2801	GOLGA2	OMIM:620240
HP:0032180	Abnormal circulating metabolite concentration	9054	NFS1	OMIM:619386
HP:0032180	Abnormal circulating metabolite concentration	125170	MIEF2	OMIM:619024
HP:0032180	Abnormal circulating metabolite concentration	90523	MLIP	OMIM:620138
HP:0032180	Abnormal circulating metabolite concentration	23224	SYNE2	OMIM:612999
HP:0032180	Abnormal circulating metabolite concentration	23224	SYNE2	ORPHA:98853
HP:0032180	Abnormal circulating metabolite concentration	23345	SYNE1	OMIM:612998
HP:0032180	Abnormal circulating metabolite concentration	23345	SYNE1	ORPHA:98853
HP:0032180	Abnormal circulating metabolite concentration	203859	ANO5	OMIM:611307
HP:0032180	Abnormal circulating metabolite concentration	203859	ANO5	ORPHA:206549
HP:0032180	Abnormal circulating metabolite concentration	203859	ANO5	OMIM:613319
HP:0032180	Abnormal circulating metabolite concentration	9987	HNRNPDL	OMIM:609115
HP:0032180	Abnormal circulating metabolite concentration	6584	SLC22A5	OMIM:212140
HP:0032180	Abnormal circulating metabolite concentration	64374	SIL1	OMIM:248800
HP:0032180	Abnormal circulating metabolite concentration	3691	ITGB4	ORPHA:158684
HP:0032180	Abnormal circulating metabolite concentration	80308	FLAD1	OMIM:255100
HP:0032180	Abnormal circulating metabolite concentration	9782	MATR3	OMIM:606070
HP:0032180	Abnormal circulating metabolite concentration	6840	SVIL	OMIM:619040
HP:0032180	Abnormal circulating metabolite concentration	7169	TPM2	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	4703	NEB	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	10324	KLHL41	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	56203	LMOD3	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	1073	CFL2	ORPHA:171436
HP:0032180	Abnormal circulating metabolite concentration	23600	AMACR	ORPHA:79095
HP:0032180	Abnormal circulating metabolite concentration	2673	GFPT1	ORPHA:353327
HP:0032180	Abnormal circulating metabolite concentration	1798	DPAGT1	ORPHA:353327
HP:0032180	Abnormal circulating metabolite concentration	85365	ALG2	ORPHA:353327
HP:0032180	Abnormal circulating metabolite concentration	199857	ALG14	ORPHA:353327
HP:0032180	Abnormal circulating metabolite concentration	3736	KCNA1	ORPHA:972
HP:0032180	Abnormal circulating metabolite concentration	3736	KCNA1	OMIM:160120
HP:0032180	Abnormal circulating metabolite concentration	116228	COX20	OMIM:619054
HP:0032180	Abnormal circulating metabolite concentration	100131801	PET100	OMIM:619055
HP:0032180	Abnormal circulating metabolite concentration	55858	TMEM165	OMIM:614727
HP:0032180	Abnormal circulating metabolite concentration	29967	LRP12	OMIM:164310
HP:0032180	Abnormal circulating metabolite concentration	9570	GOSR2	OMIM:620166
HP:0032180	Abnormal circulating metabolite concentration	9570	GOSR2	OMIM:614018
HP:0032180	Abnormal circulating metabolite concentration	7156	TOP3A	OMIM:618098
HP:0032180	Abnormal circulating metabolite concentration	9131	AIFM1	OMIM:310490
HP:0032180	Abnormal circulating metabolite concentration	4598	MVK	OMIM:610377
HP:0032180	Abnormal circulating metabolite concentration	374393	FAM111B	OMIM:615704
HP:0032180	Abnormal circulating metabolite concentration	4952	OCRL	OMIM:300555
HP:0032180	Abnormal circulating metabolite concentration	4952	OCRL	OMIM:309000
HP:0032180	Abnormal circulating metabolite concentration	5255	PHKA1	OMIM:300559
HP:0032180	Abnormal circulating metabolite concentration	3991	LIPE	ORPHA:435660
HP:0032180	Abnormal circulating metabolite concentration	3991	LIPE	OMIM:615980
HP:0032180	Abnormal circulating metabolite concentration	23533	PIK3R5	ORPHA:64753
HP:0032180	Abnormal circulating metabolite concentration	23064	SETX	ORPHA:64753
HP:0032180	Abnormal circulating metabolite concentration	23064	SETX	OMIM:606002
HP:0032180	Abnormal circulating metabolite concentration	4744	NEFH	OMIM:616924
HP:0032180	Abnormal circulating metabolite concentration	6804	STX1A	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	7461	CLIP2	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	84277	DNAJC30	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	8468	FKBP6	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	5982	RFC2	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	2969	GTF2I	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	3984	LIMK1	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	9569	GTF2IRD1	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	155382	VPS37D	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	155368	METTL27	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	114049	BUD23	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	7458	EIF4H	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	84163	GTF2IRD2	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	9275	BCL7B	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	26608	TBL2	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	653361	NCF1	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	135886	TMEM270	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	51085	MLXIPL	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	9031	BAZ1B	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	2006	ELN	ORPHA:904
HP:0032180	Abnormal circulating metabolite concentration	84992	PIGY	OMIM:616809
HP:0032180	Abnormal circulating metabolite concentration	23175	LPIN1	OMIM:268200
HP:0032180	Abnormal circulating metabolite concentration	6566	SLC16A1	OMIM:245340
HP:0032180	Abnormal circulating metabolite concentration	2548	GAA	ORPHA:308552
HP:0032180	Abnormal circulating metabolite concentration	2548	GAA	OMIM:232300
HP:0032180	Abnormal circulating metabolite concentration	1299	COL9A3	OMIM:600969
HP:0032180	Abnormal circulating metabolite concentration	5165	PDK3	ORPHA:352675
HP:0032180	Abnormal circulating metabolite concentration	11149	BVES	OMIM:616812
HP:0032180	Abnormal circulating metabolite concentration	3178	HNRNPA1	ORPHA:52430
HP:0032180	Abnormal circulating metabolite concentration	3178	HNRNPA1	OMIM:615424
HP:0032180	Abnormal circulating metabolite concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0032180	Abnormal circulating metabolite concentration	3181	HNRNPA2B1	OMIM:615422
HP:0032180	Abnormal circulating metabolite concentration	34	ACADM	ORPHA:42
HP:0032180	Abnormal circulating metabolite concentration	1374	CPT1A	OMIM:255120
HP:0032180	Abnormal circulating metabolite concentration	84317	CCDC115	OMIM:616828
HP:0032180	Abnormal circulating metabolite concentration	2318	FLNC	OMIM:609524
HP:0032180	Abnormal circulating metabolite concentration	55679	LIMS2	OMIM:616827
HP:0032180	Abnormal circulating metabolite concentration	23479	ISCU	OMIM:255125
HP:0032180	Abnormal circulating metabolite concentration	3679	ITGA7	OMIM:613204
HP:0032180	Abnormal circulating metabolite concentration	284119	CAVIN1	OMIM:613327
HP:0032180	Abnormal circulating metabolite concentration	79188	TMEM43	ORPHA:98853
HP:0032180	Abnormal circulating metabolite concentration	79650	USB1	OMIM:604173
HP:0032180	Abnormal circulating metabolite concentration	55593	OTUD5	OMIM:301056
HP:0032180	Abnormal circulating metabolite concentration	84876	ORAI1	OMIM:615883
HP:0032180	Abnormal circulating metabolite concentration	27235	COQ2	OMIM:607426
HP:0032180	Abnormal circulating metabolite concentration	55033	FKBP14	ORPHA:300179
HP:0032180	Abnormal circulating metabolite concentration	10616	RBCK1	OMIM:615895
HP:0032180	Abnormal circulating metabolite concentration	708	C1QBP	OMIM:617713
HP:0032180	Abnormal circulating metabolite concentration	5257	PHKB	ORPHA:79240
HP:0032180	Abnormal circulating metabolite concentration	128989	TANGO2	ORPHA:480864
HP:0032180	Abnormal circulating metabolite concentration	128989	TANGO2	OMIM:616878
HP:0032180	Abnormal circulating metabolite concentration	84342	COG8	OMIM:611182
HP:0032180	Abnormal circulating metabolite concentration	57511	COG6	OMIM:614576
HP:0032180	Abnormal circulating metabolite concentration	64423	INF2	OMIM:614455
HP:0032180	Abnormal circulating metabolite concentration	760	CA2	ORPHA:2785
HP:0032180	Abnormal circulating metabolite concentration	10755	GIPC1	OMIM:618940
HP:0032180	Abnormal circulating metabolite concentration	10367	MICU1	OMIM:615673
HP:0032180	Abnormal circulating metabolite concentration	81689	ISCA1	OMIM:617613
HP:0032180	Abnormal circulating metabolite concentration	55278	QRSL1	OMIM:618835
HP:0032180	Abnormal circulating metabolite concentration	5188	GATB	OMIM:618838
HP:0032180	Abnormal circulating metabolite concentration	283459	GATC	OMIM:618839
HP:0032180	Abnormal circulating metabolite concentration	54888	NSUN2	OMIM:611091
HP:0032180	Abnormal circulating metabolite concentration	3920	LAMP2	OMIM:300257
HP:0032180	Abnormal circulating metabolite concentration	178	AGL	OMIM:232400
HP:0032180	Abnormal circulating metabolite concentration	29928	TIMM22	OMIM:618851
HP:0032180	Abnormal circulating metabolite concentration	4747	NEFL	OMIM:617882
HP:0032180	Abnormal circulating metabolite concentration	9907	AP5Z1	ORPHA:306511
HP:0032180	Abnormal circulating metabolite concentration	51763	INPP5K	OMIM:617404
HP:0032180	Abnormal circulating metabolite concentration	8449	DHX16	OMIM:618733
HP:0032180	Abnormal circulating metabolite concentration	367	AR	OMIM:313200
HP:0032180	Abnormal circulating metabolite concentration	284217	LAMA1	ORPHA:370022
HP:0032180	Abnormal circulating metabolite concentration	4878	NPPA	OMIM:615745
HP:0032180	Abnormal circulating metabolite concentration	5311	PKD2	OMIM:613095
HP:0032180	Abnormal circulating metabolite concentration	5311	PKD2	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	57545	CC2D2A	OMIM:619111
HP:0032180	Abnormal circulating metabolite concentration	2321	FLT1	ORPHA:275555
HP:0032180	Abnormal circulating metabolite concentration	219736	STOX1	ORPHA:275555
HP:0032180	Abnormal circulating metabolite concentration	10699	CORIN	ORPHA:275555
HP:0032180	Abnormal circulating metabolite concentration	4867	NPHP1	OMIM:266900
HP:0032180	Abnormal circulating metabolite concentration	10229	COQ7	OMIM:616733
HP:0032180	Abnormal circulating metabolite concentration	51726	DNAJB11	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	23193	GANAB	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	5310	PKD1	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	29880	ALG5	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	9742	IFT140	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	79796	ALG9	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	80114	BICC1	ORPHA:730
HP:0032180	Abnormal circulating metabolite concentration	54916	TMEM260	OMIM:617478
HP:0032180	Abnormal circulating metabolite concentration	353	APRT	OMIM:614723
HP:0032180	Abnormal circulating metabolite concentration	11277	TREX1	ORPHA:247691
HP:0032180	Abnormal circulating metabolite concentration	254428	SLC41A1	OMIM:619468
HP:0032180	Abnormal circulating metabolite concentration	57728	WDR19	OMIM:614376
HP:0032180	Abnormal circulating metabolite concentration	2035	EPB41	ORPHA:288
HP:0032180	Abnormal circulating metabolite concentration	2995	GYPC	ORPHA:288
HP:0032180	Abnormal circulating metabolite concentration	6710	SPTB	ORPHA:288
HP:0032180	Abnormal circulating metabolite concentration	6708	SPTA1	ORPHA:288
HP:0032180	Abnormal circulating metabolite concentration	6708	SPTA1	OMIM:130600
HP:0032180	Abnormal circulating metabolite concentration	3479	IGF1	ORPHA:73272
HP:0032180	Abnormal circulating metabolite concentration	2876	GPX1	OMIM:614164
HP:0032180	Abnormal circulating metabolite concentration	7319	UBE2A	ORPHA:163956
HP:0032180	Abnormal circulating metabolite concentration	5048	PAFAH1B1	ORPHA:95232
HP:0032180	Abnormal circulating metabolite concentration	54658	UGT1A1	ORPHA:79234
HP:0032180	Abnormal circulating metabolite concentration	54658	UGT1A1	ORPHA:79235
HP:0032180	Abnormal circulating metabolite concentration	30061	SLC40A1	ORPHA:139491
HP:0032180	Abnormal circulating metabolite concentration	30061	SLC40A1	OMIM:606069
HP:0032180	Abnormal circulating metabolite concentration	3702	ITK	OMIM:613011
HP:0032180	Abnormal circulating metabolite concentration	6573	SLC19A1	OMIM:601775
HP:0032180	Abnormal circulating metabolite concentration	3162	HMOX1	OMIM:614034
HP:0032180	Abnormal circulating metabolite concentration	54977	SLC25A38	OMIM:205950
HP:0032180	Abnormal circulating metabolite concentration	64135	IFIH1	OMIM:615846
HP:0032180	Abnormal circulating metabolite concentration	3458	IFNG	OMIM:618963
HP:0032180	Abnormal circulating metabolite concentration	6773	STAT2	OMIM:618886
HP:0032180	Abnormal circulating metabolite concentration	80324	PUS1	OMIM:600462
HP:0032180	Abnormal circulating metabolite concentration	1371	CPOX	OMIM:618892
HP:0032180	Abnormal circulating metabolite concentration	1491	CTH	ORPHA:212
HP:0032180	Abnormal circulating metabolite concentration	84572	GNPTG	OMIM:252605
HP:0032180	Abnormal circulating metabolite concentration	79158	GNPTAB	OMIM:252600
HP:0032180	Abnormal circulating metabolite concentration	79158	GNPTAB	OMIM:252500
HP:0032180	Abnormal circulating metabolite concentration	5091	PC	OMIM:266150
HP:0032180	Abnormal circulating metabolite concentration	55768	NGLY1	OMIM:615273
HP:0032180	Abnormal circulating metabolite concentration	26235	FBXL4	OMIM:615471
HP:0032180	Abnormal circulating metabolite concentration	54914	FOCAD	OMIM:619991
HP:0032180	Abnormal circulating metabolite concentration	498	ATP5F1A	OMIM:616045
HP:0032180	Abnormal circulating metabolite concentration	498	ATP5F1A	OMIM:620358
HP:0032180	Abnormal circulating metabolite concentration	11222	MRPL3	OMIM:614582
HP:0032180	Abnormal circulating metabolite concentration	10059	DNM1L	OMIM:614388
HP:0032180	Abnormal circulating metabolite concentration	25821	MTO1	OMIM:614702
HP:0032180	Abnormal circulating metabolite concentration	90624	LYRM7	OMIM:615838
HP:0032180	Abnormal circulating metabolite concentration	8659	ALDH4A1	ORPHA:79101
HP:0032180	Abnormal circulating metabolite concentration	57176	VARS2	OMIM:615917
HP:0032180	Abnormal circulating metabolite concentration	2203	FBP1	ORPHA:348
HP:0032180	Abnormal circulating metabolite concentration	80222	TARS2	OMIM:615918
HP:0032180	Abnormal circulating metabolite concentration	4535	MT-ND1	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4536	MT-ND2	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4537	MT-ND3	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4538	MT-ND4	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4567	MT-TL1	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4578	MT-TW	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4577	MT-TV	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4508	MT-ATP6	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4540	MT-ND5	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4541	MT-ND6	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	4566	MT-TK	ORPHA:255210
HP:0032180	Abnormal circulating metabolite concentration	8050	PDHX	OMIM:245349
HP:0032180	Abnormal circulating metabolite concentration	4716	NDUFB10	OMIM:619003
HP:0032180	Abnormal circulating metabolite concentration	6341	SCO1	OMIM:619048
HP:0032180	Abnormal circulating metabolite concentration	7385	UQCRC2	OMIM:615160
HP:0032180	Abnormal circulating metabolite concentration	5160	PDHA1	OMIM:312170
HP:0032180	Abnormal circulating metabolite concentration	1352	COX10	OMIM:619046
HP:0032180	Abnormal circulating metabolite concentration	387787	LIPT2	OMIM:617668
HP:0032180	Abnormal circulating metabolite concentration	1841	DTYMK	OMIM:619847
HP:0032180	Abnormal circulating metabolite concentration	4285	MIPEP	OMIM:617228
HP:0032180	Abnormal circulating metabolite concentration	54931	TRMT10C	OMIM:616974
HP:0032180	Abnormal circulating metabolite concentration	1890	TYMP	ORPHA:298
HP:0032180	Abnormal circulating metabolite concentration	3980	LIG3	ORPHA:298
HP:0032180	Abnormal circulating metabolite concentration	1340	COX6B1	OMIM:619051
HP:0032180	Abnormal circulating metabolite concentration	90161	HS6ST2	OMIM:301025
HP:0032180	Abnormal circulating metabolite concentration	4718	NDUFC2	OMIM:619170
HP:0032180	Abnormal circulating metabolite concentration	1351	COX8A	OMIM:619059
HP:0032180	Abnormal circulating metabolite concentration	51116	MRPS2	OMIM:617950
HP:0032180	Abnormal circulating metabolite concentration	125988	MICOS13	OMIM:618329
HP:0032180	Abnormal circulating metabolite concentration	4724	NDUFS4	OMIM:252010
HP:0032180	Abnormal circulating metabolite concentration	162417	NAGS	ORPHA:927
HP:0032180	Abnormal circulating metabolite concentration	51079	NDUFA13	OMIM:618249
HP:0032180	Abnormal circulating metabolite concentration	54704	PDP1	ORPHA:79246
HP:0032180	Abnormal circulating metabolite concentration	9377	COX5A	OMIM:619064
HP:0032180	Abnormal circulating metabolite concentration	55863	TMEM126B	OMIM:618250
HP:0032180	Abnormal circulating metabolite concentration	54968	TMEM70	OMIM:614052
HP:0032180	Abnormal circulating metabolite concentration	3735	KARS1	OMIM:619147
HP:0032180	Abnormal circulating metabolite concentration	63931	MRPS14	OMIM:618378
HP:0032180	Abnormal circulating metabolite concentration	57017	COQ9	OMIM:614654
HP:0032180	Abnormal circulating metabolite concentration	84947	SERAC1	OMIM:614739
HP:0032180	Abnormal circulating metabolite concentration	3000	GUCY2D	OMIM:204000
HP:0032180	Abnormal circulating metabolite concentration	197131	UBR1	OMIM:243800
HP:0032180	Abnormal circulating metabolite concentration	9493	KIF23	ORPHA:98870
HP:0032180	Abnormal circulating metabolite concentration	29127	RACGAP1	ORPHA:98870
HP:0032180	Abnormal circulating metabolite concentration	55240	STEAP3	ORPHA:300298
HP:0032180	Abnormal circulating metabolite concentration	4891	SLC11A2	OMIM:206100
HP:0032180	Abnormal circulating metabolite concentration	57817	HAMP	OMIM:613313
HP:0032180	Abnormal circulating metabolite concentration	148738	HJV	OMIM:602390
HP:0032180	Abnormal circulating metabolite concentration	2495	FTH1	OMIM:615517
HP:0032180	Abnormal circulating metabolite concentration	7036	TFR2	OMIM:604250
HP:0032180	Abnormal circulating metabolite concentration	3077	HFE	OMIM:235200
HP:0032180	Abnormal circulating metabolite concentration	650	BMP2	OMIM:235200
HP:0032180	Abnormal circulating metabolite concentration	5313	PKLR	ORPHA:766
HP:0032180	Abnormal circulating metabolite concentration	5830	PEX5	OMIM:202370
HP:0032180	Abnormal circulating metabolite concentration	5830	PEX5	OMIM:214110
HP:0032180	Abnormal circulating metabolite concentration	215	ABCD1	OMIM:300100
HP:0032180	Abnormal circulating metabolite concentration	5824	PEX19	OMIM:614886
HP:0032180	Abnormal circulating metabolite concentration	5189	PEX1	OMIM:214100
HP:0032180	Abnormal circulating metabolite concentration	10682	EBP	ORPHA:401973
HP:0032180	Abnormal circulating metabolite concentration	10682	EBP	OMIM:302960
HP:0032180	Abnormal circulating metabolite concentration	1758	DMP1	ORPHA:289176
HP:0032180	Abnormal circulating metabolite concentration	5167	ENPP1	ORPHA:289176
HP:0032180	Abnormal circulating metabolite concentration	2778	GNAS	OMIM:612462
HP:0032180	Abnormal circulating metabolite concentration	2778	GNAS	OMIM:103580
HP:0032180	Abnormal circulating metabolite concentration	2778	GNAS	ORPHA:94089
HP:0032180	Abnormal circulating metabolite concentration	2778	GNAS	ORPHA:79443
HP:0032180	Abnormal circulating metabolite concentration	2778	GNAS	ORPHA:79444
HP:0032180	Abnormal circulating metabolite concentration	8675	STX16	ORPHA:94089
HP:0032180	Abnormal circulating metabolite concentration	6905	TBCE	ORPHA:93324
HP:0032180	Abnormal circulating metabolite concentration	63901	FAM111A	ORPHA:93325
HP:0032180	Abnormal circulating metabolite concentration	79783	SUGCT	ORPHA:35706
HP:0032180	Abnormal circulating metabolite concentration	131118	DNAJC19	ORPHA:66634
HP:0032180	Abnormal circulating metabolite concentration	2108	ETFA	OMIM:231680
HP:0032180	Abnormal circulating metabolite concentration	2109	ETFB	OMIM:231680
HP:0032180	Abnormal circulating metabolite concentration	2110	ETFDH	OMIM:231680
HP:0032180	Abnormal circulating metabolite concentration	2639	GCDH	OMIM:231670
HP:0032180	Abnormal circulating metabolite concentration	4860	PNP	ORPHA:760
HP:0032180	Abnormal circulating metabolite concentration	4860	PNP	OMIM:613179
HP:0032180	Abnormal circulating metabolite concentration	116085	SLC22A12	OMIM:220150
HP:0032180	Abnormal circulating metabolite concentration	116085	SLC22A12	ORPHA:94088
HP:0032180	Abnormal circulating metabolite concentration	56606	SLC2A9	OMIM:612076
HP:0032180	Abnormal circulating metabolite concentration	56606	SLC2A9	ORPHA:94088
HP:0032180	Abnormal circulating metabolite concentration	10243	GPHN	OMIM:615501
HP:0032180	Abnormal circulating metabolite concentration	4337	MOCS1	OMIM:252150
HP:0032180	Abnormal circulating metabolite concentration	4338	MOCS2	OMIM:252160
HP:0032180	Abnormal circulating metabolite concentration	540	ATP7B	OMIM:277900
HP:0032180	Abnormal circulating metabolite concentration	55034	MOCOS	OMIM:603592
HP:0032180	Abnormal circulating metabolite concentration	9997	SCO2	OMIM:604377
HP:0032180	Abnormal circulating metabolite concentration	54539	NDUFB11	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	25915	NDUFAF3	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	51103	NDUFAF1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	91942	NDUFAF2	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	51300	TIMMDC1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4723	NDUFV1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4723	NDUFV1	OMIM:618225
HP:0032180	Abnormal circulating metabolite concentration	55572	FOXRED1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	284184	NDUFAF8	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4729	NDUFV2	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4694	NDUFA1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4720	NDUFS2	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4726	NDUFS6	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4728	NDUFS8	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4728	NDUFS8	OMIM:618222
HP:0032180	Abnormal circulating metabolite concentration	4722	NDUFS3	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	79133	NDUFAF5	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	126328	NDUFA11	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4709	NDUFB3	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	80224	NUBPL	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	29078	NDUFAF4	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	374291	NDUFS7	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4700	NDUFA6	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4719	NDUFS1	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	4715	NDUFB9	ORPHA:2609
HP:0032180	Abnormal circulating metabolite concentration	51660	MPC1	OMIM:614741
HP:0032180	Abnormal circulating metabolite concentration	9361	LONP1	ORPHA:79243
HP:0032180	Abnormal circulating metabolite concentration	1339	COX6A2	OMIM:619062
HP:0032180	Abnormal circulating metabolite concentration	6390	SDHB	OMIM:619224
HP:0032180	Abnormal circulating metabolite concentration	4558	MT-TF	OMIM:545000
HP:0032180	Abnormal circulating metabolite concentration	4571	MT-TP	OMIM:545000
HP:0032180	Abnormal circulating metabolite concentration	4565	MT-TI	OMIM:545000
HP:0032180	Abnormal circulating metabolite concentration	39	ACAT2	OMIM:614055
HP:0032180	Abnormal circulating metabolite concentration	115286	SLC25A26	OMIM:616794
HP:0032180	Abnormal circulating metabolite concentration	50640	PNPLA8	OMIM:251950
HP:0032180	Abnormal circulating metabolite concentration	4204	MECP2	ORPHA:778
HP:0032180	Abnormal circulating metabolite concentration	2222	FDFT1	OMIM:618156
HP:0032180	Abnormal circulating metabolite concentration	29929	ALG6	ORPHA:79320
HP:0032180	Abnormal circulating metabolite concentration	80025	PANK2	OMIM:607236
HP:0032180	Abnormal circulating metabolite concentration	5009	OTC	OMIM:311250
HP:0032180	Abnormal circulating metabolite concentration	29960	MRM2	OMIM:618567
HP:0032180	Abnormal circulating metabolite concentration	1373	CPS1	OMIM:237300
HP:0032180	Abnormal circulating metabolite concentration	5832	ALDH18A1	OMIM:219150
HP:0032180	Abnormal circulating metabolite concentration	5105	PCK1	OMIM:261680
HP:0032180	Abnormal circulating metabolite concentration	51601	LIPT1	OMIM:616299
HP:0032180	Abnormal circulating metabolite concentration	11231	SEC63	ORPHA:2924
HP:0032180	Abnormal circulating metabolite concentration	5589	PRKCSH	ORPHA:2924
HP:0032180	Abnormal circulating metabolite concentration	5589	PRKCSH	OMIM:174050
HP:0032180	Abnormal circulating metabolite concentration	4041	LRP5	ORPHA:2924
HP:0032180	Abnormal circulating metabolite concentration	51473	DCDC2	ORPHA:84081
HP:0032180	Abnormal circulating metabolite concentration	91147	TMEM67	ORPHA:84081
HP:0032180	Abnormal circulating metabolite concentration	6521	SLC4A1	ORPHA:3202
HP:0032180	Abnormal circulating metabolite concentration	9780	PIEZO1	ORPHA:3202
HP:0032180	Abnormal circulating metabolite concentration	3783	KCNN4	ORPHA:3202
HP:0032180	Abnormal circulating metabolite concentration	4552	MTRR	OMIM:236270
HP:0032180	Abnormal circulating metabolite concentration	4552	MTRR	ORPHA:2169
HP:0032180	Abnormal circulating metabolite concentration	25974	MMACHC	ORPHA:79282
HP:0032180	Abnormal circulating metabolite concentration	25974	MMACHC	OMIM:277400
HP:0032180	Abnormal circulating metabolite concentration	55788	LMBRD1	ORPHA:79284
HP:0032180	Abnormal circulating metabolite concentration	4524	MTHFR	ORPHA:395
HP:0032180	Abnormal circulating metabolite concentration	5826	ABCD4	OMIM:614857
HP:0032180	Abnormal circulating metabolite concentration	4548	MTR	OMIM:250940
HP:0032180	Abnormal circulating metabolite concentration	27249	MMADHC	OMIM:277410
HP:0032180	Abnormal circulating metabolite concentration	5052	PRDX1	OMIM:277400
HP:0032180	Abnormal circulating metabolite concentration	6531	SLC6A3	ORPHA:238455
HP:0032180	Abnormal circulating metabolite concentration	56922	MCCC1	ORPHA:6
HP:0032180	Abnormal circulating metabolite concentration	149461	CLDN19	OMIM:248190
HP:0032180	Abnormal circulating metabolite concentration	6575	SLC20A2	OMIM:213600
HP:0032180	Abnormal circulating metabolite concentration	5155	PDGFB	OMIM:213600
HP:0032180	Abnormal circulating metabolite concentration	55811	ADCY10	ORPHA:2197
HP:0032180	Abnormal circulating metabolite concentration	8942	KYNU	ORPHA:79155
HP:0032180	Abnormal circulating metabolite concentration	4868	NPHS1	ORPHA:839
HP:0032180	Abnormal circulating metabolite concentration	54903	MKS1	OMIM:249000
HP:0032180	Abnormal circulating metabolite concentration	368	ABCC6	OMIM:614473
HP:0032180	Abnormal circulating metabolite concentration	368	ABCC6	ORPHA:51608
HP:0032180	Abnormal circulating metabolite concentration	3845	KRAS	OMIM:163200
HP:0032180	Abnormal circulating metabolite concentration	4893	NRAS	OMIM:163200
HP:0032180	Abnormal circulating metabolite concentration	3265	HRAS	OMIM:163200
HP:0032180	Abnormal circulating metabolite concentration	3265	HRAS	ORPHA:2874
HP:0032180	Abnormal circulating metabolite concentration	5805	PTS	OMIM:261640
HP:0032180	Abnormal circulating metabolite concentration	5860	QDPR	OMIM:261630
HP:0032180	Abnormal circulating metabolite concentration	213	ALB	ORPHA:86816
HP:0032180	Abnormal circulating metabolite concentration	3827	KNG1	OMIM:228960
HP:0032180	Abnormal circulating metabolite concentration	55163	PNPO	ORPHA:79096
HP:0032180	Abnormal circulating metabolite concentration	124454	EARS2	OMIM:614924
HP:0032180	Abnormal circulating metabolite concentration	4233	MET	ORPHA:33402
HP:0032180	Abnormal circulating metabolite concentration	26137	ZBTB20	OMIM:259050
HP:0032180	Abnormal circulating metabolite concentration	23556	PIGN	ORPHA:280633
HP:0032180	Abnormal circulating metabolite concentration	10459	MAD2L2	OMIM:617243
HP:0032180	Abnormal circulating metabolite concentration	472	ATM	OMIM:208900
HP:0032180	Abnormal circulating metabolite concentration	165918	RNF168	ORPHA:420741
HP:0032180	Abnormal circulating metabolite concentration	6794	STK11	OMIM:273300
HP:0032180	Abnormal circulating metabolite concentration	8915	BCL10	OMIM:273300
HP:0032180	Abnormal circulating metabolite concentration	3815	KIT	OMIM:273300
HP:0032180	Abnormal circulating metabolite concentration	2261	FGFR3	OMIM:273300
HP:0032180	Abnormal circulating metabolite concentration	2746	GLUD1	ORPHA:35878
HP:0032180	Abnormal circulating metabolite concentration	2746	GLUD1	OMIM:606762
HP:0032180	Abnormal circulating metabolite concentration	7072	TIA1	OMIM:604454
HP:0032180	Abnormal circulating metabolite concentration	7072	TIA1	ORPHA:603
HP:0032180	Abnormal circulating metabolite concentration	79784	MYH14	ORPHA:397744
HP:0032180	Abnormal circulating metabolite concentration	79784	MYH14	OMIM:614369
HP:0032180	Abnormal circulating metabolite concentration	274	BIN1	ORPHA:169189
HP:0032180	Abnormal circulating metabolite concentration	64419	MTMR14	ORPHA:169189
HP:0032180	Abnormal circulating metabolite concentration	64419	MTMR14	OMIM:160150
HP:0032180	Abnormal circulating metabolite concentration	4618	MYF6	ORPHA:169189
HP:0032180	Abnormal circulating metabolite concentration	4568	MT-TL2	ORPHA:663
HP:0032180	Abnormal circulating metabolite concentration	4570	MT-TN	ORPHA:663
HP:0032180	Abnormal circulating metabolite concentration	4574	MT-TS1	ORPHA:663
HP:0032180	Abnormal circulating metabolite concentration	54870	QRICH1	OMIM:617982
HP:0032180	Abnormal circulating metabolite concentration	10730	YME1L1	OMIM:617302
HP:0032180	Abnormal circulating metabolite concentration	4358	MPV17	OMIM:618400
HP:0032180	Abnormal circulating metabolite concentration	122622	ADSS1	OMIM:617030
HP:0032180	Abnormal circulating metabolite concentration	57449	PLEKHG5	OMIM:615376
HP:0032180	Abnormal circulating metabolite concentration	7170	TPM3	ORPHA:171439
HP:0032180	Abnormal circulating metabolite concentration	55681	SCYL2	ORPHA:1143
HP:0032180	Abnormal circulating metabolite concentration	84570	COL25A1	ORPHA:1143
HP:0032180	Abnormal circulating metabolite concentration	57222	ERGIC1	ORPHA:1143
HP:0032180	Abnormal circulating metabolite concentration	9325	TRIP4	ORPHA:486815
HP:0032180	Abnormal circulating metabolite concentration	285489	DOK7	OMIM:254300
HP:0032180	Abnormal circulating metabolite concentration	374354	NHLRC2	OMIM:618278
HP:0032180	Abnormal circulating metabolite concentration	8085	KMT2D	OMIM:620186
HP:0032180	Abnormal circulating metabolite concentration	3664	IRF6	ORPHA:1300
HP:0032180	Abnormal circulating metabolite concentration	2643	GCH1	ORPHA:98808
HP:0032180	Abnormal circulating metabolite concentration	2643	GCH1	OMIM:128230
HP:0032180	Abnormal circulating metabolite concentration	4929	NR4A2	ORPHA:98808
HP:0032180	Abnormal circulating metabolite concentration	3615	IMPDH2	ORPHA:98808
HP:0032180	Abnormal circulating metabolite concentration	6697	SPR	OMIM:612716
HP:0032180	Abnormal circulating metabolite concentration	270	AMPD1	ORPHA:45
HP:0032180	Abnormal circulating metabolite concentration	272	AMPD3	ORPHA:45
HP:0032180	Abnormal circulating metabolite concentration	1629	DBT	OMIM:248600
HP:0032180	Abnormal circulating metabolite concentration	593	BCKDHA	OMIM:248600
HP:0032180	Abnormal circulating metabolite concentration	594	BCKDHB	OMIM:248600
HP:0032180	Abnormal circulating metabolite concentration	5625	PRODH	OMIM:600850
HP:0032180	Abnormal circulating metabolite concentration	5625	PRODH	OMIM:239500
HP:0032180	Abnormal circulating metabolite concentration	5625	PRODH	ORPHA:419
HP:0032180	Abnormal circulating metabolite concentration	7389	UROD	ORPHA:95159
HP:0032180	Abnormal circulating metabolite concentration	5828	PEX2	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	5828	PEX2	OMIM:614866
HP:0032180	Abnormal circulating metabolite concentration	5828	PEX2	OMIM:614867
HP:0032180	Abnormal circulating metabolite concentration	8504	PEX3	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	9409	PEX16	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	9409	PEX16	OMIM:614877
HP:0032180	Abnormal circulating metabolite concentration	5190	PEX6	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	8799	PEX11B	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	5194	PEX13	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	5195	PEX14	ORPHA:772
HP:0032180	Abnormal circulating metabolite concentration	5191	PEX7	OMIM:614879
HP:0032180	Abnormal circulating metabolite concentration	5191	PEX7	OMIM:266500
HP:0032180	Abnormal circulating metabolite concentration	5191	PEX7	OMIM:215100
HP:0032180	Abnormal circulating metabolite concentration	5264	PHYH	OMIM:266500
HP:0032180	Abnormal circulating metabolite concentration	538	ATP7A	OMIM:309400
HP:0032180	Abnormal circulating metabolite concentration	538	ATP7A	OMIM:304150
HP:0032180	Abnormal circulating metabolite concentration	22796	COG2	ORPHA:435934
HP:0032180	Abnormal circulating metabolite concentration	22796	COG2	OMIM:617395
HP:0032180	Abnormal circulating metabolite concentration	1174	AP1S1	ORPHA:171851
HP:0032180	Abnormal circulating metabolite concentration	9197	SLC33A1	OMIM:614482
HP:0032180	Abnormal circulating metabolite concentration	10295	BCKDK	OMIM:614923
HP:0032180	Abnormal circulating metabolite concentration	1757	SARDH	ORPHA:3129
HP:0032180	Abnormal circulating metabolite concentration	1757	SARDH	OMIM:268900
HP:0032180	Abnormal circulating metabolite concentration	6888	TALDO1	ORPHA:101028
HP:0032180	Abnormal circulating metabolite concentration	10841	FTCD	ORPHA:51208
HP:0032180	Abnormal circulating metabolite concentration	131669	UROC1	ORPHA:210128
HP:0032180	Abnormal circulating metabolite concentration	3034	HAL	OMIM:235800
HP:0032180	Abnormal circulating metabolite concentration	3034	HAL	ORPHA:2157
HP:0032180	Abnormal circulating metabolite concentration	152926	PPM1K	OMIM:615135
HP:0032180	Abnormal circulating metabolite concentration	587	BCAT2	OMIM:618850
HP:0032180	Abnormal circulating metabolite concentration	506	ATP5F1B	OMIM:620085
HP:0032180	Abnormal circulating metabolite concentration	7498	XDH	OMIM:278300
HP:0032180	Abnormal circulating metabolite concentration	5192	PEX10	ORPHA:247815
HP:0032180	Abnormal circulating metabolite concentration	51181	DCXR	ORPHA:2843
HP:0032180	Abnormal circulating metabolite concentration	189	AGXT	ORPHA:93598
HP:0032180	Abnormal circulating metabolite concentration	3043	HBB	ORPHA:231222
HP:0032180	Abnormal circulating metabolite concentration	3043	HBB	ORPHA:231226
HP:0032180	Abnormal circulating metabolite concentration	3043	HBB	ORPHA:231214
HP:0032180	Abnormal circulating metabolite concentration	9051	PSTPIP1	OMIM:604416
HP:0032180	Abnormal circulating metabolite concentration	3689	ITGB2	OMIM:116920
HP:0032180	Abnormal circulating metabolite concentration	90268	OTULIN	OMIM:617099
HP:0032180	Abnormal circulating metabolite concentration	144811	LACC1	ORPHA:85414
HP:0032180	Abnormal circulating metabolite concentration	4282	MIF	ORPHA:85414
HP:0032180	Abnormal circulating metabolite concentration	29775	CARD10	OMIM:619632
HP:0032180	Abnormal circulating metabolite concentration	114548	NLRP3	OMIM:191900
HP:0032180	Abnormal circulating metabolite concentration	114548	NLRP3	OMIM:607115
HP:0032180	Abnormal circulating metabolite concentration	114548	NLRP3	ORPHA:1451
HP:0032180	Abnormal circulating metabolite concentration	114548	NLRP3	OMIM:120100
HP:0032180	Abnormal circulating metabolite concentration	27178	IL37	OMIM:619398
HP:0032180	Abnormal circulating metabolite concentration	5580	PRKCD	OMIM:615559
HP:0032180	Abnormal circulating metabolite concentration	1493	CTLA4	ORPHA:900
HP:0032180	Abnormal circulating metabolite concentration	3115	HLA-DPB1	ORPHA:900
HP:0032180	Abnormal circulating metabolite concentration	5657	PRTN3	ORPHA:900
HP:0032180	Abnormal circulating metabolite concentration	3113	HLA-DPA1	ORPHA:900
HP:0032180	Abnormal circulating metabolite concentration	57169	ZNFX1	OMIM:619644
HP:0032180	Abnormal circulating metabolite concentration	22861	NLRP1	OMIM:617388
HP:0032180	Abnormal circulating metabolite concentration	1314	COPA	OMIM:616414
HP:0032180	Abnormal circulating metabolite concentration	51816	ADA2	OMIM:615688
HP:0032180	Abnormal circulating metabolite concentration	3557	IL1RN	OMIM:612852
HP:0032180	Abnormal circulating metabolite concentration	91662	NLRP12	OMIM:611762
HP:0032180	Abnormal circulating metabolite concentration	7132	TNFRSF1A	ORPHA:32960
HP:0032180	Abnormal circulating metabolite concentration	51371	POMP	OMIM:618048
HP:0032180	Abnormal circulating metabolite concentration	340061	STING1	OMIM:615934
HP:0032180	Abnormal circulating metabolite concentration	26525	IL36RN	OMIM:614204
HP:0032180	Abnormal circulating metabolite concentration	10095	ARPC1B	OMIM:617718
HP:0032180	Abnormal circulating metabolite concentration	6583	SLC22A4	OMIM:180300
HP:0032180	Abnormal circulating metabolite concentration	51744	CD244	OMIM:180300
HP:0032180	Abnormal circulating metabolite concentration	4795	NFKBIL1	OMIM:180300
HP:0032180	Abnormal circulating metabolite concentration	3586	IL10	OMIM:180300
HP:0032180	Abnormal circulating metabolite concentration	2000	ELF4	OMIM:301074
HP:0032180	Abnormal circulating metabolite concentration	205327	C2orf69	OMIM:619423
HP:0032180	Abnormal circulating metabolite concentration	4689	NCF4	OMIM:613960
HP:0032180	Abnormal circulating metabolite concentration	11330	CTRC	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	5644	PRSS1	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	5645	PRSS2	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	6690	SPINK1	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	1080	CFTR	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	1357	CPA1	ORPHA:676
HP:0032180	Abnormal circulating metabolite concentration	130589	GALM	ORPHA:570422
HP:0032180	Abnormal circulating metabolite concentration	130589	GALM	OMIM:618881
HP:0032180	Abnormal circulating metabolite concentration	2592	GALT	OMIM:230400
HP:0032180	Abnormal circulating metabolite concentration	2582	GALE	OMIM:230350
HP:0032180	Abnormal circulating metabolite concentration	4942	OAT	OMIM:258870
HP:0032180	Abnormal circulating metabolite concentration	4942	OAT	ORPHA:414
HP:0032180	Abnormal circulating metabolite concentration	10166	SLC25A15	ORPHA:415
HP:0032180	Abnormal circulating metabolite concentration	10166	SLC25A15	OMIM:238970
HP:0032180	Abnormal circulating metabolite concentration	283209	PGM2L1	OMIM:620191
HP:0032180	Abnormal circulating metabolite concentration	4907	NT5E	ORPHA:289601
HP:0032180	Abnormal circulating metabolite concentration	64218	SEMA4A	ORPHA:440437
HP:0032180	Abnormal circulating metabolite concentration	6224	RPS20	ORPHA:440437
HP:0032180	Abnormal circulating metabolite concentration	22948	CCT5	OMIM:256840
HP:0032180	Abnormal circulating metabolite concentration	27329	ANGPTL3	OMIM:605019
HP:0032180	Abnormal circulating metabolite concentration	5130	PCYT1A	ORPHA:85167
HP:0032180	Abnormal circulating metabolite concentration	210	ALAD	ORPHA:100924
HP:0032180	Abnormal circulating metabolite concentration	10845	CLPX	OMIM:618015
HP:0032180	Abnormal circulating metabolite concentration	7390	UROS	ORPHA:79277
HP:0032180	Abnormal circulating metabolite concentration	2623	GATA1	ORPHA:79277
HP:0032180	Abnormal circulating metabolite concentration	212	ALAS2	OMIM:300752
HP:0032180	Abnormal circulating metabolite concentration	9414	TJP2	OMIM:607748
HP:0032180	Abnormal circulating metabolite concentration	6554	SLC10A1	OMIM:619256
HP:0032180	Abnormal circulating metabolite concentration	57003	CCDC47	OMIM:618268
HP:0032180	Abnormal circulating metabolite concentration	7018	TF	OMIM:209300
HP:0032180	Abnormal circulating metabolite concentration	5723	PSPH	ORPHA:79350
HP:0032180	Abnormal circulating metabolite concentration	5723	PSPH	OMIM:614023
HP:0032180	Abnormal circulating metabolite concentration	26227	PHGDH	ORPHA:79351
HP:0032180	Abnormal circulating metabolite concentration	2671	GFER	ORPHA:330054
HP:0032180	Abnormal circulating metabolite concentration	10008	KCNE3	ORPHA:681
HP:0032180	Abnormal circulating metabolite concentration	476	ATP1A1	ORPHA:564178
HP:0032180	Abnormal circulating metabolite concentration	2694	CBLIF	OMIM:261000
HP:0032180	Abnormal circulating metabolite concentration	5825	ABCD3	OMIM:616278
HP:0032180	Abnormal circulating metabolite concentration	23545	ATP6V0A2	ORPHA:357074
HP:0032180	Abnormal circulating metabolite concentration	523	ATP6V1A	ORPHA:357074
HP:0032180	Abnormal circulating metabolite concentration	529	ATP6V1E1	ORPHA:357074
HP:0032180	Abnormal circulating metabolite concentration	5994	RFXAP	ORPHA:572
HP:0032180	Abnormal circulating metabolite concentration	4261	CIITA	ORPHA:572
HP:0032180	Abnormal circulating metabolite concentration	5993	RFX5	ORPHA:572
HP:0032180	Abnormal circulating metabolite concentration	8625	RFXANK	ORPHA:572
HP:0032180	Abnormal circulating metabolite concentration	567	B2M	OMIM:241600
HP:0032180	Abnormal circulating metabolite concentration	5626	PROP1	ORPHA:226307
HP:0032180	Abnormal circulating metabolite concentration	89884	LHX4	ORPHA:226307
HP:0032180	Abnormal circulating metabolite concentration	8022	LHX3	ORPHA:226307
HP:0032180	Abnormal circulating metabolite concentration	5449	POU1F1	ORPHA:226307
HP:0032180	Abnormal circulating metabolite concentration	8820	HESX1	ORPHA:226307
HP:0032180	Abnormal circulating metabolite concentration	405753	DUOXA2	ORPHA:95716
HP:0032180	Abnormal circulating metabolite concentration	6528	SLC5A5	ORPHA:95716
HP:0032180	Abnormal circulating metabolite concentration	7038	TG	ORPHA:95716
HP:0032180	Abnormal circulating metabolite concentration	7173	TPO	ORPHA:95716
HP:0032180	Abnormal circulating metabolite concentration	389434	IYD	ORPHA:95716
HP:0032180	Abnormal circulating metabolite concentration	7201	TRHR	ORPHA:99832
HP:0032180	Abnormal circulating metabolite concentration	7253	TSHR	OMIM:609152
HP:0032180	Abnormal circulating metabolite concentration	7253	TSHR	ORPHA:90673
HP:0032180	Abnormal circulating metabolite concentration	50506	DUOX2	ORPHA:226316
HP:0032180	Abnormal circulating metabolite concentration	169792	GLIS3	OMIM:610199
HP:0032180	Abnormal circulating metabolite concentration	7355	SLC35A2	ORPHA:356961
HP:0032180	Abnormal circulating metabolite concentration	7849	PAX8	OMIM:218700
HP:0032180	Abnormal circulating metabolite concentration	7068	THRB	OMIM:188570
HP:0032180	Abnormal circulating metabolite concentration	3766	KCNJ10	OMIM:274600
HP:0032180	Abnormal circulating metabolite concentration	2299	FOXI1	OMIM:274600
HP:0032180	Abnormal circulating metabolite concentration	5172	SLC26A4	OMIM:274600
HP:0032180	Abnormal circulating metabolite concentration	1356	CP	OMIM:604290
HP:0032180	Abnormal circulating metabolite concentration	1356	CP	ORPHA:48818
HP:0032180	Abnormal circulating metabolite concentration	22934	RPIA	OMIM:608611
HP:0032180	Abnormal circulating metabolite concentration	7086	TKT	ORPHA:488618
HP:0032180	Abnormal circulating metabolite concentration	64208	POPDC3	OMIM:618848
HP:0032180	Abnormal circulating metabolite concentration	4056	LTC4S	OMIM:614037
HP:0032180	Abnormal circulating metabolite concentration	8462	KLF11	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	26060	APPL1	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	640	BLK	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	1056	CEL	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	4760	NEUROD1	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	5078	PAX4	ORPHA:552
HP:0032180	Abnormal circulating metabolite concentration	3630	INS	OMIM:618858
HP:0032180	Abnormal circulating metabolite concentration	4665	NAB2	ORPHA:2126
HP:0032180	Abnormal circulating metabolite concentration	6778	STAT6	ORPHA:2126
HP:0032180	Abnormal circulating metabolite concentration	3651	PDX1	OMIM:260370
HP:0032180	Abnormal circulating metabolite concentration	23019	CNOT1	ORPHA:556955
HP:0032180	Abnormal circulating metabolite concentration	2645	GCK	OMIM:606176
HP:0032180	Abnormal circulating metabolite concentration	3767	KCNJ11	ORPHA:276580
HP:0032180	Abnormal circulating metabolite concentration	3767	KCNJ11	ORPHA:79644
HP:0032180	Abnormal circulating metabolite concentration	7351	UCP2	ORPHA:276556
HP:0032180	Abnormal circulating metabolite concentration	3643	INSR	ORPHA:769
HP:0032180	Abnormal circulating metabolite concentration	6927	HNF1A	ORPHA:324575
HP:0032180	Abnormal circulating metabolite concentration	6833	ABCC8	ORPHA:276575
HP:0032180	Abnormal circulating metabolite concentration	6718	AKR1D1	ORPHA:79303
HP:0032180	Abnormal circulating metabolite concentration	1439	CSF2RB	ORPHA:264675
HP:0032180	Abnormal circulating metabolite concentration	1438	CSF2RA	ORPHA:264675
HP:0032180	Abnormal circulating metabolite concentration	2313	FLI1	ORPHA:370348
HP:0032180	Abnormal circulating metabolite concentration	5950	RBP4	OMIM:615147
HP:0032180	Abnormal circulating metabolite concentration	3119	HLA-DQB1	ORPHA:930
HP:0032180	Abnormal circulating metabolite concentration	9244	CRLF1	ORPHA:930
HP:0032180	Abnormal circulating metabolite concentration	3117	HLA-DQA1	ORPHA:930
HP:0032180	Abnormal circulating metabolite concentration	4842	NOS1	ORPHA:930
HP:0032180	Abnormal circulating metabolite concentration	5921	RASA1	ORPHA:90307
HP:0032180	Abnormal circulating metabolite concentration	7276	TTR	ORPHA:85451
HP:0032180	Abnormal circulating metabolite concentration	4882	NPR2	OMIM:615923
HP:0032180	Abnormal circulating metabolite concentration	4312	MMP1	ORPHA:79408
HP:0032180	Abnormal circulating metabolite concentration	3376	IARS1	ORPHA:541423
HP:0032180	Abnormal circulating metabolite concentration	3376	IARS1	OMIM:617093
HP:0032180	Abnormal circulating metabolite concentration	7780	SLC30A2	OMIM:608118
HP:0032180	Abnormal circulating metabolite concentration	55630	SLC39A4	OMIM:201100
HP:0032180	Abnormal circulating metabolite concentration	164656	TMPRSS6	OMIM:206200
HP:0032180	Abnormal circulating metabolite concentration	654	BMP6	OMIM:620121
HP:0032180	Abnormal circulating metabolite concentration	79048	SECISBP2	ORPHA:171706
HP:0032180	Abnormal circulating metabolite concentration	29958	DMGDH	OMIM:605850
HP:0032180	Abnormal circulating metabolite concentration	5265	SERPINA1	OMIM:613490
HP:0032180	Abnormal circulating metabolite concentration	64116	SLC39A8	ORPHA:468699
HP:0032180	Abnormal circulating metabolite concentration	5321	PLA2G4A	OMIM:618372
HP:0032180	Abnormal circulating metabolite concentration	443	ASPA	OMIM:271900
HP:0032180	Abnormal circulating metabolite concentration	8838	CCN6	ORPHA:1159
HP:0032180	Abnormal circulating metabolite concentration	3570	IL6R	OMIM:618944
HP:0032180	Abnormal circulating metabolite concentration	6652	SORD	OMIM:618912
HP:0032180	Abnormal circulating metabolite concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0032180	Abnormal circulating metabolite concentration	4210	MEFV	OMIM:249100
HP:0032180	Abnormal circulating metabolite concentration	3572	IL6ST	OMIM:619750
HP:0032180	Abnormal circulating metabolite concentration	23474	ETHE1	OMIM:602473
HP:0032180	Abnormal circulating metabolite concentration	8482	SEMA7A	OMIM:619874
HP:0032180	Abnormal circulating metabolite concentration	3295	HSD17B4	OMIM:261515
HP:0032180	Abnormal circulating metabolite concentration	85021	REPS1	OMIM:617916
HP:0032180	Abnormal circulating metabolite concentration	123264	SLC51B	OMIM:619481
HP:0032180	Abnormal circulating metabolite concentration	60676	PAPPA2	OMIM:619489
HP:0032180	Abnormal circulating metabolite concentration	3028	HSD17B10	OMIM:300438
HP:0032180	Abnormal circulating metabolite concentration	6535	SLC6A8	OMIM:300352
HP:0032180	Abnormal circulating metabolite concentration	55670	PEX26	OMIM:614872
HP:0032180	Abnormal circulating metabolite concentration	2593	GAMT	OMIM:612736
HP:0032180	Abnormal circulating metabolite concentration	501	ALDH7A1	OMIM:266100
HP:0032180	Abnormal circulating metabolite concentration	3818	KLKB1	OMIM:612423
HP:0032180	Abnormal circulating metabolite concentration	644	BLVRA	OMIM:614156
HP:0032180	Abnormal circulating metabolite concentration	51733	UPB1	OMIM:613161
HP:0032180	Abnormal circulating metabolite concentration	6342	SCP2	OMIM:613724
HP:0032180	Abnormal circulating metabolite concentration	1272	CNTN1	OMIM:612540
HP:0032180	Abnormal circulating metabolite concentration	2632	GBE1	OMIM:232500
HP:0032180	Abnormal circulating metabolite concentration	10290	SPEG	OMIM:615959
HP:0032180	Abnormal circulating metabolite concentration	57731	SPTBN4	OMIM:617519
HP:0032180	Abnormal circulating metabolite concentration	9990	SLC12A6	OMIM:620068
HP:0032180	Abnormal circulating metabolite concentration	124093	CCDC78	OMIM:614807
HP:0032180	Abnormal circulating metabolite concentration	55958	KLHL9	ORPHA:399081
HP:0032180	Abnormal circulating metabolite concentration	4632	MYL1	OMIM:618414
HP:0032180	Abnormal circulating metabolite concentration	9200	HACD1	OMIM:619967
HP:0032180	Abnormal circulating metabolite concentration	10329	RXYLT1	ORPHA:899
HP:0032180	Abnormal circulating metabolite concentration	2512	FTL	OMIM:600886
HP:0032180	Abnormal circulating metabolite concentration	2512	FTL	ORPHA:254704
HP:0032180	Abnormal circulating metabolite concentration	3418	IDH2	OMIM:613657
HP:0032180	Abnormal circulating metabolite concentration	79944	L2HGDH	OMIM:236792
HP:0032180	Abnormal circulating metabolite concentration	7941	PLA2G7	OMIM:614278
HP:0032180	Abnormal circulating metabolite concentration	5092	PCBD1	ORPHA:1578
HP:0032180	Abnormal circulating metabolite concentration	5054	SERPINE1	ORPHA:465
HP:0032180	Abnormal circulating metabolite concentration	5340	PLG	OMIM:217090
HP:0032180	Abnormal circulating metabolite concentration	5340	PLG	ORPHA:722
HP:0032180	Abnormal circulating metabolite concentration	64170	CARD9	OMIM:212050
HP:0032180	Abnormal circulating metabolite concentration	6499	SKIC2	OMIM:614602
HP:0032180	Abnormal circulating metabolite concentration	51095	TRNT1	OMIM:616959
HP:0032180	Abnormal circulating metabolite concentration	27086	FOXP1	ORPHA:391372
HP:0032180	Abnormal circulating metabolite concentration	5277	PIGA	ORPHA:447
HP:0032180	Abnormal circulating metabolite concentration	8309	ACOX2	OMIM:617308
HP:0032180	Abnormal circulating metabolite concentration	35	ACADS	ORPHA:26792
HP:0032180	Abnormal circulating metabolite concentration	55065	SLC52A1	OMIM:615026
HP:0032180	Abnormal circulating metabolite concentration	3483	IGFALS	OMIM:615961
HP:0032180	Abnormal circulating metabolite concentration	5314	PKHD1	ORPHA:53035
HP:0032180	Abnormal circulating metabolite concentration	174	AFP	OMIM:615969
HP:0032180	Abnormal circulating metabolite concentration	79879	CCDC134	OMIM:619795
HP:0032180	Abnormal circulating metabolite concentration	10568	SLC34A2	ORPHA:60025
HP:0032180	Abnormal circulating metabolite concentration	5053	PAH	OMIM:261600
HP:0032180	Abnormal circulating metabolite concentration	5205	ATP8B1	OMIM:147480
HP:0032180	Abnormal circulating metabolite concentration	26191	PTPN22	OMIM:222100
HP:0032180	Abnormal circulating metabolite concentration	3710	ITPR3	OMIM:222100
HP:0032180	Abnormal circulating metabolite concentration	3569	IL6	OMIM:222100
HP:0032180	Abnormal circulating metabolite concentration	54532	USP53	OMIM:619658
HP:0032180	Abnormal circulating metabolite concentration	7915	ALDH5A1	OMIM:271980
HP:0032180	Abnormal circulating metabolite concentration	4353	MPO	OMIM:104300
HP:0032180	Abnormal circulating metabolite concentration	4846	NOS3	OMIM:104300
HP:0032180	Abnormal circulating metabolite concentration	351	APP	OMIM:104300
HP:0032180	Abnormal circulating metabolite concentration	5328	PLAU	OMIM:104300
HP:0032180	Abnormal circulating metabolite concentration	3875	KRT18	OMIM:215600
HP:0032180	Abnormal circulating metabolite concentration	8573	CASK	OMIM:300908
HP:0032180	Abnormal circulating metabolite concentration	2539	G6PD	OMIM:300908
HP:0032180	Abnormal circulating metabolite concentration	8671	SLC4A4	OMIM:604278
HP:0032180	Abnormal circulating metabolite concentration	134218	DNAJC21	ORPHA:811
HP:0032180	Abnormal circulating metabolite concentration	79631	EFL1	ORPHA:811
HP:0032180	Abnormal circulating metabolite concentration	51119	SBDS	ORPHA:811
HP:0032180	Abnormal circulating metabolite concentration	6729	SRP54	ORPHA:811
HP:0032180	Abnormal circulating metabolite concentration	6999	TDO2	OMIM:600627
HP:0032180	Abnormal circulating metabolite concentration	2752	GLUL	OMIM:610015
HP:0032180	Abnormal circulating metabolite concentration	4190	MDH1	OMIM:618959
HP:0032180	Abnormal circulating metabolite concentration	4780	NFE2L2	OMIM:617744
HP:0032180	Abnormal circulating metabolite concentration	383	ARG1	OMIM:207800
HP:0032180	Abnormal circulating metabolite concentration	6533	SLC6A6	OMIM:145350
HP:0032180	Abnormal circulating metabolite concentration	1807	DPYS	OMIM:222748
HP:0032180	Abnormal circulating metabolite concentration	8443	GNPAT	OMIM:222765
HP:0032182	Abnormal proportion of memory T cells	3071	NCKAP1L	OMIM:618982
HP:0032182	Abnormal proportion of memory T cells	8915	BCL10	OMIM:616098
HP:0032182	Abnormal proportion of memory T cells	6929	TCF3	OMIM:619824
HP:0032182	Abnormal proportion of memory T cells	54440	SASH3	OMIM:301082
HP:0032182	Abnormal proportion of memory T cells	5294	PIK3CG	OMIM:619802
HP:0032183	Decreased proportion of memory T cells	8915	BCL10	OMIM:616098
HP:0032183	Decreased proportion of memory T cells	5294	PIK3CG	OMIM:619802
HP:0032183	Decreased proportion of memory T cells	6929	TCF3	OMIM:619824
HP:0032184	Increased proportion of memory T cells	3071	NCKAP1L	OMIM:618982
HP:0032184	Increased proportion of memory T cells	6929	TCF3	OMIM:619824
HP:0032184	Increased proportion of memory T cells	54440	SASH3	OMIM:301082
HP:0032185	Disseminated molluscum contagiosum	84433	CARD11	OMIM:617638
HP:0032185	Disseminated molluscum contagiosum	81704	DOCK8	OMIM:243700
HP:0032192	Hydatidiform mole	199713	NLRP7	OMIM:231090
HP:0032192	Hydatidiform mole	154288	KHDC3L	OMIM:614293
HP:0032192	Hydatidiform mole	150365	MEI1	OMIM:618431
HP:0032192	Hydatidiform mole	79703	TOP6BL	OMIM:618432
HP:0032198	Decreased prothrombin time	175	AGA	OMIM:208400
HP:0032198	Decreased prothrombin time	3155	HMGCL	OMIM:246450
HP:0032199	Abnormal prothrombin time	3155	HMGCL	ORPHA:20
HP:0032199	Abnormal prothrombin time	51594	NBAS	OMIM:616483
HP:0032199	Abnormal prothrombin time	55532	SLC30A10	ORPHA:309854
HP:0032199	Abnormal prothrombin time	2677	GGCX	OMIM:277450
HP:0032199	Abnormal prothrombin time	2677	GGCX	OMIM:610842
HP:0032199	Abnormal prothrombin time	132	ADK	OMIM:614300
HP:0032199	Abnormal prothrombin time	5009	OTC	OMIM:311250
HP:0032199	Abnormal prothrombin time	9420	CYP7B1	OMIM:613812
HP:0032199	Abnormal prothrombin time	23600	AMACR	OMIM:214950
HP:0032199	Abnormal prothrombin time	6718	AKR1D1	ORPHA:79303
HP:0032199	Abnormal prothrombin time	2158	F9	OMIM:306900
HP:0032199	Abnormal prothrombin time	5551	PRF1	OMIM:603553
HP:0032199	Abnormal prothrombin time	3998	LMAN1	ORPHA:35909
HP:0032199	Abnormal prothrombin time	90411	MCFD2	ORPHA:35909
HP:0032199	Abnormal prothrombin time	79631	EFL1	OMIM:617941
HP:0032199	Abnormal prothrombin time	3075	CFH	ORPHA:244242
HP:0032199	Abnormal prothrombin time	3426	CFI	ORPHA:244242
HP:0032199	Abnormal prothrombin time	4179	CD46	ORPHA:244242
HP:0032199	Abnormal prothrombin time	101101692	HELLPAR	ORPHA:244242
HP:0032199	Abnormal prothrombin time	2542	SLC37A4	OMIM:619525
HP:0032199	Abnormal prothrombin time	10165	SLC25A13	ORPHA:247598
HP:0032199	Abnormal prothrombin time	3033	HADH	ORPHA:71212
HP:0032199	Abnormal prothrombin time	55768	NGLY1	ORPHA:404454
HP:0032199	Abnormal prothrombin time	2159	F10	OMIM:227600
HP:0032199	Abnormal prothrombin time	2159	F10	ORPHA:328
HP:0032199	Abnormal prothrombin time	55687	TRMU	OMIM:613070
HP:0032199	Abnormal prothrombin time	60561	RINT1	OMIM:618641
HP:0032199	Abnormal prothrombin time	2153	F5	OMIM:227400
HP:0032199	Abnormal prothrombin time	2859	GPR35	ORPHA:171
HP:0032199	Abnormal prothrombin time	10507	SEMA4D	ORPHA:171
HP:0032199	Abnormal prothrombin time	4485	MST1	ORPHA:171
HP:0032199	Abnormal prothrombin time	6925	TCF4	ORPHA:171
HP:0032199	Abnormal prothrombin time	100131801	PET100	OMIM:619055
HP:0032199	Abnormal prothrombin time	125988	MICOS13	OMIM:618329
HP:0032199	Abnormal prothrombin time	5236	PGM1	OMIM:614921
HP:0032199	Abnormal prothrombin time	2147	F2	OMIM:613679
HP:0032199	Abnormal prothrombin time	2147	F2	ORPHA:325
HP:0032199	Abnormal prothrombin time	3117	HLA-DQA1	OMIM:212750
HP:0032199	Abnormal prothrombin time	3119	HLA-DQB1	OMIM:212750
HP:0032199	Abnormal prothrombin time	2184	FAH	OMIM:276700
HP:0032199	Abnormal prothrombin time	10020	GNE	ORPHA:3166
HP:0032199	Abnormal prothrombin time	79087	ALG12	ORPHA:79324
HP:0032199	Abnormal prothrombin time	2155	F7	ORPHA:327
HP:0032199	Abnormal prothrombin time	4547	MTTP	ORPHA:14
HP:0032199	Abnormal prothrombin time	191	AHCY	ORPHA:88618
HP:0032199	Abnormal prothrombin time	81570	CLPB	OMIM:616271
HP:0032199	Abnormal prothrombin time	9971	NR1H4	OMIM:617049
HP:0032199	Abnormal prothrombin time	84342	COG8	ORPHA:95428
HP:0032199	Abnormal prothrombin time	6655	SOS2	OMIM:616559
HP:0032199	Abnormal prothrombin time	28976	ACAD9	ORPHA:99901
HP:0032199	Abnormal prothrombin time	5373	PMM2	OMIM:212065
HP:0032199	Abnormal prothrombin time	175	AGA	OMIM:208400
HP:0032199	Abnormal prothrombin time	8985	PLOD3	OMIM:612394
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	87178	PNPT1	ORPHA:319514
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1340	COX6B1	OMIM:619051
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	51204	TACO1	OMIM:619052
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1716	DGUOK	OMIM:617070
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	28958	COA3	OMIM:619058
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	6834	SURF1	OMIM:220110
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	65080	MRPL44	OMIM:615395
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	23474	ETHE1	OMIM:602473
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	10128	LRPPRC	ORPHA:70472
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	84334	COA8	OMIM:619061
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1339	COX6A2	OMIM:619062
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4556	MT-TE	ORPHA:254864
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	55687	TRMU	ORPHA:254864
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	57505	AARS2	OMIM:614096
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	57505	AARS2	OMIM:615889
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4697	NDUFA4	OMIM:619065
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1352	COX10	OMIM:619046
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	125170	MIEF2	OMIM:619024
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	84705	GTPBP3	OMIM:616198
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	246243	RNASEH1	OMIM:616479
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	221927	BRAT1	OMIM:614498
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	57570	TRMT5	OMIM:616539
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	284439	SLC25A42	OMIM:618416
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	92667	MGME1	OMIM:615084
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	3980	LIG3	OMIM:619780
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	56652	TWNK	ORPHA:254892
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	50484	RRM2B	ORPHA:254892
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4512	MT-CO1	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4513	MT-CO2	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4514	MT-CO3	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4519	MT-CYB	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4511	MT-TC	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4574	MT-TS1	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4575	MT-TS2	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4558	MT-TF	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4541	MT-ND6	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4541	MT-ND6	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4567	MT-TL1	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4567	MT-TL1	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4540	MT-ND5	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4540	MT-ND5	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4566	MT-TK	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4566	MT-TK	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4535	MT-ND1	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4535	MT-ND1	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4535	MT-ND1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4572	MT-TQ	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4577	MT-TV	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4577	MT-TV	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4578	MT-TW	OMIM:540000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4578	MT-TW	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4536	MT-ND2	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4536	MT-ND2	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4537	MT-ND3	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4537	MT-ND3	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4538	MT-ND4	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4508	MT-ATP6	ORPHA:255210
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4508	MT-ATP6	OMIM:551500
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	112812	FDX2	OMIM:251900
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	54539	NDUFB11	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	25915	NDUFAF3	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	51103	NDUFAF1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	91942	NDUFAF2	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	51300	TIMMDC1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4716	NDUFB10	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4723	NDUFV1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	55572	FOXRED1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	284184	NDUFAF8	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	55863	TMEM126B	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4729	NDUFV2	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4694	NDUFA1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4720	NDUFS2	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4724	NDUFS4	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4726	NDUFS6	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4728	NDUFS8	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4722	NDUFS3	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	79133	NDUFAF5	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	126328	NDUFA11	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4709	NDUFB3	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	80224	NUBPL	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	29078	NDUFAF4	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	374291	NDUFS7	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4700	NDUFA6	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4719	NDUFS1	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4715	NDUFB9	ORPHA:2609
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	859	CAV3	OMIM:123320
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1763	DNA2	ORPHA:352470
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1890	TYMP	OMIM:603041
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	55154	MSTO1	ORPHA:502423
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	50640	PNPLA8	OMIM:251950
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	80324	PUS1	ORPHA:2598
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	51067	YARS2	ORPHA:2598
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	23479	ISCU	OMIM:255125
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4976	OPA1	ORPHA:1215
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4568	MT-TL2	ORPHA:663
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4570	MT-TN	ORPHA:663
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	10667	FARS2	ORPHA:466722
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	4576	MT-TT	OMIM:551000
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	5428	POLG	OMIM:613662
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	7084	TK2	OMIM:609560
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	7084	TK2	OMIM:617069
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	11232	POLG2	OMIM:618528
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	8802	SUCLG1	OMIM:245400
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	1468	SLC25A10	OMIM:618972
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	291	SLC25A4	OMIM:617184
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	55750	AGK	OMIM:212350
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	7156	TOP3A	OMIM:618097
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	498	ATP5F1A	OMIM:616045
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	7019	TFAM	OMIM:617156
HP:0003805	Rimmed vacuoles	58	ACTA1	ORPHA:97240
HP:0003805	Rimmed vacuoles	64374	SIL1	OMIM:248800
HP:0003805	Rimmed vacuoles	353116	RILPL1	OMIM:619790
HP:0003805	Rimmed vacuoles	7072	TIA1	OMIM:604454
HP:0003805	Rimmed vacuoles	7072	TIA1	ORPHA:603
HP:0003805	Rimmed vacuoles	10020	GNE	OMIM:605820
HP:0003805	Rimmed vacuoles	10020	GNE	ORPHA:602
HP:0003805	Rimmed vacuoles	7273	TTN	OMIM:603689
HP:0003805	Rimmed vacuoles	7273	TTN	OMIM:600334
HP:0003805	Rimmed vacuoles	7273	TTN	ORPHA:178464
HP:0003805	Rimmed vacuoles	7273	TTN	ORPHA:609
HP:0003805	Rimmed vacuoles	10755	GIPC1	OMIM:618940
HP:0003805	Rimmed vacuoles	8106	PABPN1	ORPHA:270
HP:0003805	Rimmed vacuoles	100996717	NOTCH2NLC	OMIM:619473
HP:0003805	Rimmed vacuoles	9453	GGPS1	OMIM:619518
HP:0003805	Rimmed vacuoles	9782	MATR3	OMIM:606070
HP:0003805	Rimmed vacuoles	9782	MATR3	ORPHA:600
HP:0003805	Rimmed vacuoles	4744	NEFH	OMIM:616924
HP:0003805	Rimmed vacuoles	6606	SMN1	OMIM:271150
HP:0003805	Rimmed vacuoles	7415	VCP	OMIM:167320
HP:0003805	Rimmed vacuoles	7415	VCP	ORPHA:52430
HP:0003805	Rimmed vacuoles	7415	VCP	ORPHA:329478
HP:0003805	Rimmed vacuoles	4703	NEB	OMIM:256030
HP:0003805	Rimmed vacuoles	4625	MYH7	ORPHA:59135
HP:0003805	Rimmed vacuoles	4625	MYH7	OMIM:160500
HP:0003805	Rimmed vacuoles	10049	DNAJB6	OMIM:603511
HP:0003805	Rimmed vacuoles	10049	DNAJB6	ORPHA:34516
HP:0003805	Rimmed vacuoles	57104	PNPLA2	ORPHA:565612
HP:0003805	Rimmed vacuoles	57104	PNPLA2	ORPHA:98908
HP:0003805	Rimmed vacuoles	2273	FHL1	OMIM:300718
HP:0003805	Rimmed vacuoles	2273	FHL1	OMIM:300696
HP:0003805	Rimmed vacuoles	2273	FHL1	ORPHA:98863
HP:0003805	Rimmed vacuoles	54344	DPM3	OMIM:612937
HP:0003805	Rimmed vacuoles	54344	DPM3	ORPHA:263494
HP:0003805	Rimmed vacuoles	1303	COL12A1	ORPHA:610
HP:0003805	Rimmed vacuoles	1291	COL6A1	ORPHA:610
HP:0003805	Rimmed vacuoles	1292	COL6A2	ORPHA:610
HP:0003805	Rimmed vacuoles	1293	COL6A3	ORPHA:610
HP:0003805	Rimmed vacuoles	3178	HNRNPA1	ORPHA:52430
HP:0003805	Rimmed vacuoles	3178	HNRNPA1	OMIM:615424
HP:0003805	Rimmed vacuoles	3178	HNRNPA1	OMIM:615426
HP:0003805	Rimmed vacuoles	3181	HNRNPA2B1	ORPHA:52430
HP:0003805	Rimmed vacuoles	3181	HNRNPA2B1	OMIM:615422
HP:0003805	Rimmed vacuoles	122622	ADSS1	OMIM:617030
HP:0003805	Rimmed vacuoles	8878	SQSTM1	OMIM:617158
HP:0003805	Rimmed vacuoles	8878	SQSTM1	ORPHA:603
HP:0003805	Rimmed vacuoles	311	ANXA11	OMIM:619733
HP:0003805	Rimmed vacuoles	29967	LRP12	OMIM:164310
HP:0003805	Rimmed vacuoles	2010	EMD	ORPHA:98863
HP:0003805	Rimmed vacuoles	23676	SMPX	OMIM:301075
HP:0003805	Rimmed vacuoles	8557	TCAP	OMIM:601954
HP:0003805	Rimmed vacuoles	51776	MAP3K20	OMIM:617760
HP:0003805	Rimmed vacuoles	8291	DYSF	ORPHA:178400
HP:0003805	Rimmed vacuoles	88	ACTN2	OMIM:618655
HP:0003805	Rimmed vacuoles	400916	CHCHD10	ORPHA:276435
HP:0003805	Rimmed vacuoles	4000	LMNA	ORPHA:98855
HP:0003805	Rimmed vacuoles	4000	LMNA	ORPHA:98853
HP:0003805	Rimmed vacuoles	23534	TNPO3	OMIM:608423
HP:0003805	Rimmed vacuoles	1674	DES	OMIM:181400
HP:0003805	Rimmed vacuoles	9987	HNRNPDL	OMIM:609115
HP:0003805	Rimmed vacuoles	79188	TMEM43	ORPHA:98853
HP:0003805	Rimmed vacuoles	23345	SYNE1	ORPHA:98853
HP:0003805	Rimmed vacuoles	23224	SYNE2	ORPHA:98853
HP:0003808	Abnormal muscle tone	2892	GRIA3	ORPHA:364028
HP:0003808	Abnormal muscle tone	9499	MYOT	ORPHA:266
HP:0003808	Abnormal muscle tone	271	AMPD2	OMIM:615809
HP:0003808	Abnormal muscle tone	8242	KDM5C	OMIM:300534
HP:0003808	Abnormal muscle tone	29940	DSE	OMIM:615539
HP:0003808	Abnormal muscle tone	64132	XYLT2	ORPHA:85194
HP:0003808	Abnormal muscle tone	2673	GFPT1	OMIM:608931
HP:0003808	Abnormal muscle tone	1139	CHRNA7	ORPHA:199318
HP:0003808	Abnormal muscle tone	1139	CHRNA7	OMIM:612001
HP:0003808	Abnormal muscle tone	10059	DNM1L	OMIM:614388
HP:0003808	Abnormal muscle tone	1134	CHRNA1	OMIM:608930
HP:0003808	Abnormal muscle tone	55209	SETD5	ORPHA:404440
HP:0003808	Abnormal muscle tone	2731	GLDC	OMIM:605899
HP:0003808	Abnormal muscle tone	275	AMT	OMIM:605899
HP:0003808	Abnormal muscle tone	2593	GAMT	ORPHA:382
HP:0003808	Abnormal muscle tone	2593	GAMT	OMIM:612736
HP:0003808	Abnormal muscle tone	283489	CHAMP1	OMIM:616579
HP:0003808	Abnormal muscle tone	23322	RPGRIP1L	ORPHA:220497
HP:0003808	Abnormal muscle tone	23322	RPGRIP1L	ORPHA:1454
HP:0003808	Abnormal muscle tone	4867	NPHP1	ORPHA:220497
HP:0003808	Abnormal muscle tone	4867	NPHP1	OMIM:609583
HP:0003808	Abnormal muscle tone	65062	TMEM237	ORPHA:220497
HP:0003808	Abnormal muscle tone	65062	TMEM237	ORPHA:2318
HP:0003808	Abnormal muscle tone	65062	TMEM237	ORPHA:475
HP:0003808	Abnormal muscle tone	65062	TMEM237	OMIM:614424
HP:0003808	Abnormal muscle tone	477	ATP1A2	OMIM:619605
HP:0003808	Abnormal muscle tone	477	ATP1A2	ORPHA:2131
HP:0003808	Abnormal muscle tone	27245	AHDC1	ORPHA:412069
HP:0003808	Abnormal muscle tone	27245	AHDC1	OMIM:615829
HP:0003808	Abnormal muscle tone	166378	AFG2A	OMIM:616577
HP:0003808	Abnormal muscle tone	84466	MEGF10	OMIM:614399
HP:0003808	Abnormal muscle tone	54806	AHI1	ORPHA:220493
HP:0003808	Abnormal muscle tone	54806	AHI1	ORPHA:475
HP:0003808	Abnormal muscle tone	54806	AHI1	OMIM:608629
HP:0003808	Abnormal muscle tone	56623	INPP5E	ORPHA:220493
HP:0003808	Abnormal muscle tone	56623	INPP5E	OMIM:213300
HP:0003808	Abnormal muscle tone	56623	INPP5E	ORPHA:75858
HP:0003808	Abnormal muscle tone	56623	INPP5E	ORPHA:1454
HP:0003808	Abnormal muscle tone	56623	INPP5E	OMIM:610156
HP:0003808	Abnormal muscle tone	56623	INPP5E	ORPHA:475
HP:0003808	Abnormal muscle tone	153241	CEP120	ORPHA:220493
HP:0003808	Abnormal muscle tone	153241	CEP120	OMIM:617761
HP:0003808	Abnormal muscle tone	153241	CEP120	ORPHA:475
HP:0003808	Abnormal muscle tone	54903	MKS1	ORPHA:220493
HP:0003808	Abnormal muscle tone	54903	MKS1	ORPHA:475
HP:0003808	Abnormal muscle tone	54903	MKS1	OMIM:249000
HP:0003808	Abnormal muscle tone	95681	CEP41	ORPHA:220493
HP:0003808	Abnormal muscle tone	95681	CEP41	ORPHA:475
HP:0003808	Abnormal muscle tone	95681	CEP41	OMIM:614464
HP:0003808	Abnormal muscle tone	79158	GNPTAB	OMIM:252500
HP:0003808	Abnormal muscle tone	79693	YRDC	OMIM:619609
HP:0003808	Abnormal muscle tone	7253	TSHR	ORPHA:90673
HP:0003808	Abnormal muscle tone	7253	TSHR	ORPHA:95720
HP:0003808	Abnormal muscle tone	7253	TSHR	ORPHA:95713
HP:0003808	Abnormal muscle tone	7252	TSHB	ORPHA:90674
HP:0003808	Abnormal muscle tone	7252	TSHB	OMIM:275100
HP:0003808	Abnormal muscle tone	8029	CUBN	ORPHA:35858
HP:0003808	Abnormal muscle tone	81693	AMN	ORPHA:35858
HP:0003808	Abnormal muscle tone	55687	TRMU	OMIM:613070
HP:0003808	Abnormal muscle tone	3190	HNRNPK	OMIM:616580
HP:0003808	Abnormal muscle tone	3190	HNRNPK	ORPHA:453504
HP:0003808	Abnormal muscle tone	3190	HNRNPK	ORPHA:352665
HP:0003808	Abnormal muscle tone	54453	RIN2	OMIM:613075
HP:0003808	Abnormal muscle tone	79029	AFG2B	OMIM:619616
HP:0003808	Abnormal muscle tone	2261	FGFR3	ORPHA:1860
HP:0003808	Abnormal muscle tone	2261	FGFR3	ORPHA:93274
HP:0003808	Abnormal muscle tone	2261	FGFR3	OMIM:187600
HP:0003808	Abnormal muscle tone	7436	VLDLR	OMIM:224050
HP:0003808	Abnormal muscle tone	7436	VLDLR	ORPHA:1766
HP:0003808	Abnormal muscle tone	7386	UQCRFS1	OMIM:618775
HP:0003808	Abnormal muscle tone	790955	UQCC3	OMIM:616111
HP:0003808	Abnormal muscle tone	3340	NDST1	OMIM:616116
HP:0003808	Abnormal muscle tone	6602	SMARCD1	OMIM:618779
HP:0003808	Abnormal muscle tone	4747	NEFL	ORPHA:101085
HP:0003808	Abnormal muscle tone	5373	PMM2	OMIM:212065
HP:0003808	Abnormal muscle tone	11285	B4GALT7	OMIM:130070
HP:0003808	Abnormal muscle tone	11285	B4GALT7	ORPHA:75496
HP:0003808	Abnormal muscle tone	1187	CLCNKA	OMIM:613090
HP:0003808	Abnormal muscle tone	1187	CLCNKA	ORPHA:89938
HP:0003808	Abnormal muscle tone	1188	CLCNKB	OMIM:613090
HP:0003808	Abnormal muscle tone	1188	CLCNKB	ORPHA:89938
HP:0003808	Abnormal muscle tone	55768	NGLY1	OMIM:615273
HP:0003808	Abnormal muscle tone	8493	PPM1D	OMIM:617450
HP:0003808	Abnormal muscle tone	55621	TRMT1	OMIM:618302
HP:0003808	Abnormal muscle tone	5593	PRKG2	OMIM:619638
HP:0003808	Abnormal muscle tone	5593	PRKG2	OMIM:619636
HP:0003808	Abnormal muscle tone	9354	UBE4A	OMIM:619639
HP:0003808	Abnormal muscle tone	55280	CWF19L1	OMIM:616127
HP:0003808	Abnormal muscle tone	5604	MAP2K1	OMIM:615279
HP:0003808	Abnormal muscle tone	5604	MAP2K1	ORPHA:1340
HP:0003808	Abnormal muscle tone	2517	FUCA1	ORPHA:349
HP:0003808	Abnormal muscle tone	2203	FBP1	ORPHA:348
HP:0003808	Abnormal muscle tone	2203	FBP1	OMIM:229700
HP:0003808	Abnormal muscle tone	111	ADCY5	OMIM:606703
HP:0003808	Abnormal muscle tone	79718	TBL1XR1	OMIM:602342
HP:0003808	Abnormal muscle tone	79718	TBL1XR1	OMIM:616944
HP:0003808	Abnormal muscle tone	79718	TBL1XR1	ORPHA:487825
HP:0003808	Abnormal muscle tone	5605	MAP2K2	OMIM:615280
HP:0003808	Abnormal muscle tone	5605	MAP2K2	ORPHA:1340
HP:0003808	Abnormal muscle tone	54828	BCAS3	OMIM:619641
HP:0003808	Abnormal muscle tone	253959	RALGAPA1	OMIM:618797
HP:0003808	Abnormal muscle tone	11041	B4GAT1	OMIM:615287
HP:0003808	Abnormal muscle tone	11041	B4GAT1	ORPHA:899
HP:0003808	Abnormal muscle tone	2232	FDXR	ORPHA:543470
HP:0003808	Abnormal muscle tone	113179	ADAT3	OMIM:615286
HP:0003808	Abnormal muscle tone	2904	GRIN2B	OMIM:616139
HP:0003808	Abnormal muscle tone	163175	LGI4	OMIM:617468
HP:0003808	Abnormal muscle tone	163175	LGI4	ORPHA:2680
HP:0003808	Abnormal muscle tone	79971	WLS	OMIM:619648
HP:0003808	Abnormal muscle tone	56652	TWNK	OMIM:271245
HP:0003808	Abnormal muscle tone	4208	MEF2C	ORPHA:228384
HP:0003808	Abnormal muscle tone	4208	MEF2C	OMIM:613443
HP:0003808	Abnormal muscle tone	775	CACNA1C	OMIM:601005
HP:0003808	Abnormal muscle tone	775	CACNA1C	OMIM:620029
HP:0003808	Abnormal muscle tone	2239	GPC4	ORPHA:373
HP:0003808	Abnormal muscle tone	2239	GPC4	OMIM:312870
HP:0003808	Abnormal muscle tone	2719	GPC3	ORPHA:373
HP:0003808	Abnormal muscle tone	2719	GPC3	OMIM:312870
HP:0003808	Abnormal muscle tone	4000	LMNA	ORPHA:157973
HP:0003808	Abnormal muscle tone	4000	LMNA	ORPHA:90153
HP:0003808	Abnormal muscle tone	4000	LMNA	OMIM:613205
HP:0003808	Abnormal muscle tone	4000	LMNA	ORPHA:98855
HP:0003808	Abnormal muscle tone	4000	LMNA	ORPHA:98853
HP:0003808	Abnormal muscle tone	197258	FCSK	OMIM:618324
HP:0003808	Abnormal muscle tone	125988	MICOS13	OMIM:618329
HP:0003808	Abnormal muscle tone	23499	MACF1	OMIM:618325
HP:0003808	Abnormal muscle tone	2744	GLS	OMIM:618328
HP:0003808	Abnormal muscle tone	5836	PYGL	ORPHA:369
HP:0003808	Abnormal muscle tone	58497	PRUNE1	OMIM:617481
HP:0003808	Abnormal muscle tone	1523	CUX1	OMIM:618330
HP:0003808	Abnormal muscle tone	5813	PURA	OMIM:616158
HP:0003808	Abnormal muscle tone	7227	TRPS1	ORPHA:77258
HP:0003808	Abnormal muscle tone	7227	TRPS1	ORPHA:502
HP:0003808	Abnormal muscle tone	4921	DDR2	OMIM:271665
HP:0003808	Abnormal muscle tone	3155	HMGCL	ORPHA:20
HP:0003808	Abnormal muscle tone	3155	HMGCL	OMIM:246450
HP:0003808	Abnormal muscle tone	7915	ALDH5A1	ORPHA:22
HP:0003808	Abnormal muscle tone	7915	ALDH5A1	OMIM:271980
HP:0003808	Abnormal muscle tone	8925	HERC1	OMIM:617011
HP:0003808	Abnormal muscle tone	8925	HERC1	ORPHA:457359
HP:0003808	Abnormal muscle tone	4598	MVK	ORPHA:29
HP:0003808	Abnormal muscle tone	4598	MVK	OMIM:610377
HP:0003808	Abnormal muscle tone	23516	SLC39A14	OMIM:617013
HP:0003808	Abnormal muscle tone	10564	ARFGEF2	OMIM:608097
HP:0003808	Abnormal muscle tone	8573	CASK	OMIM:300749
HP:0003808	Abnormal muscle tone	1798	DPAGT1	OMIM:608093
HP:0003808	Abnormal muscle tone	1798	DPAGT1	OMIM:614750
HP:0003808	Abnormal muscle tone	55746	NUP133	OMIM:618349
HP:0003808	Abnormal muscle tone	55746	NUP133	ORPHA:2065
HP:0003808	Abnormal muscle tone	51259	TMEM216	OMIM:608091
HP:0003808	Abnormal muscle tone	51259	TMEM216	ORPHA:2318
HP:0003808	Abnormal muscle tone	51259	TMEM216	ORPHA:2754
HP:0003808	Abnormal muscle tone	2671	GFER	ORPHA:330054
HP:0003808	Abnormal muscle tone	2200	FBN1	ORPHA:284979
HP:0003808	Abnormal muscle tone	2200	FBN1	OMIM:616914
HP:0003808	Abnormal muscle tone	2200	FBN1	ORPHA:2462
HP:0003808	Abnormal muscle tone	56945	MRPS22	OMIM:611719
HP:0003808	Abnormal muscle tone	5515	PPP2CA	OMIM:618354
HP:0003808	Abnormal muscle tone	23114	NFASC	OMIM:618356
HP:0003808	Abnormal muscle tone	116461	TSEN15	OMIM:617026
HP:0003808	Abnormal muscle tone	5660	PSAP	OMIM:611721
HP:0003808	Abnormal muscle tone	5660	PSAP	OMIM:249900
HP:0003808	Abnormal muscle tone	5660	PSAP	ORPHA:139406
HP:0003808	Abnormal muscle tone	51114	ZDHHC9	ORPHA:776
HP:0003808	Abnormal muscle tone	65109	UPF3B	ORPHA:776
HP:0003808	Abnormal muscle tone	65109	UPF3B	OMIM:300676
HP:0003808	Abnormal muscle tone	9968	MED12	ORPHA:776
HP:0003808	Abnormal muscle tone	9968	MED12	OMIM:300895
HP:0003808	Abnormal muscle tone	9968	MED12	OMIM:305450
HP:0003808	Abnormal muscle tone	3767	KCNJ11	ORPHA:99885
HP:0003808	Abnormal muscle tone	3767	KCNJ11	ORPHA:99886
HP:0003808	Abnormal muscle tone	6774	STAT3	ORPHA:99885
HP:0003808	Abnormal muscle tone	2645	GCK	ORPHA:99885
HP:0003808	Abnormal muscle tone	3651	PDX1	ORPHA:99885
HP:0003808	Abnormal muscle tone	6833	ABCC8	ORPHA:99885
HP:0003808	Abnormal muscle tone	6833	ABCC8	ORPHA:99886
HP:0003808	Abnormal muscle tone	3630	INS	ORPHA:99885
HP:0003808	Abnormal muscle tone	346171	ZFP57	ORPHA:99886
HP:0003808	Abnormal muscle tone	57061	HYMAI	ORPHA:99886
HP:0003808	Abnormal muscle tone	5325	PLAGL1	ORPHA:99886
HP:0003808	Abnormal muscle tone	57190	SELENON	OMIM:602771
HP:0003808	Abnormal muscle tone	57190	SELENON	ORPHA:2020
HP:0003808	Abnormal muscle tone	79709	COLGALT1	OMIM:618360
HP:0003808	Abnormal muscle tone	473	RERE	ORPHA:494344
HP:0003808	Abnormal muscle tone	473	RERE	OMIM:616975
HP:0003808	Abnormal muscle tone	473	RERE	ORPHA:1606
HP:0003808	Abnormal muscle tone	347733	TUBB2B	ORPHA:467166
HP:0003808	Abnormal muscle tone	347733	TUBB2B	ORPHA:1766
HP:0003808	Abnormal muscle tone	7846	TUBA1A	ORPHA:467166
HP:0003808	Abnormal muscle tone	7846	TUBA1A	OMIM:611603
HP:0003808	Abnormal muscle tone	7846	TUBA1A	ORPHA:171680
HP:0003808	Abnormal muscle tone	10381	TUBB3	ORPHA:467166
HP:0003808	Abnormal muscle tone	22930	RAB3GAP1	OMIM:600118
HP:0003808	Abnormal muscle tone	22930	RAB3GAP1	ORPHA:2510
HP:0003808	Abnormal muscle tone	51434	ANAPC7	OMIM:619699
HP:0003808	Abnormal muscle tone	6601	SMARCC2	OMIM:618362
HP:0003808	Abnormal muscle tone	7468	NSD2	OMIM:619695
HP:0003808	Abnormal muscle tone	7468	NSD2	ORPHA:280
HP:0003808	Abnormal muscle tone	267010	RNU12	OMIM:620208
HP:0003808	Abnormal muscle tone	64856	VWA1	OMIM:619216
HP:0003808	Abnormal muscle tone	3054	HCFC1	OMIM:309541
HP:0003808	Abnormal muscle tone	2019	EN1	OMIM:619218
HP:0003808	Abnormal muscle tone	51608	GET4	OMIM:620200
HP:0003808	Abnormal muscle tone	5805	PTS	ORPHA:13
HP:0003808	Abnormal muscle tone	7703	PCGF2	OMIM:618371
HP:0003808	Abnormal muscle tone	1277	COL1A1	OMIM:130060
HP:0003808	Abnormal muscle tone	1277	COL1A1	ORPHA:1899
HP:0003808	Abnormal muscle tone	1277	COL1A1	ORPHA:287
HP:0003808	Abnormal muscle tone	7086	TKT	OMIM:617044
HP:0003808	Abnormal muscle tone	7086	TKT	ORPHA:488618
HP:0003808	Abnormal muscle tone	6390	SDHB	OMIM:619224
HP:0003808	Abnormal muscle tone	84705	GTPBP3	OMIM:616198
HP:0003808	Abnormal muscle tone	6304	SATB1	OMIM:619228
HP:0003808	Abnormal muscle tone	6304	SATB1	OMIM:619229
HP:0003808	Abnormal muscle tone	8883	NAE1	OMIM:620210
HP:0003808	Abnormal muscle tone	220296	HEPACAM	OMIM:613926
HP:0003808	Abnormal muscle tone	3028	HSD17B10	ORPHA:391428
HP:0003808	Abnormal muscle tone	3028	HSD17B10	OMIM:300438
HP:0003808	Abnormal muscle tone	50801	KCNK4	OMIM:618381
HP:0003808	Abnormal muscle tone	83480	PUS3	OMIM:617051
HP:0003808	Abnormal muscle tone	84265	POLR3GL	OMIM:619234
HP:0003808	Abnormal muscle tone	55697	VAC14	OMIM:617054
HP:0003808	Abnormal muscle tone	5913	RAPSN	OMIM:618388
HP:0003808	Abnormal muscle tone	5913	RAPSN	OMIM:616326
HP:0003808	Abnormal muscle tone	27107	ZBTB11	OMIM:618383
HP:0003808	Abnormal muscle tone	3032	HADHB	ORPHA:746
HP:0003808	Abnormal muscle tone	3030	HADHA	ORPHA:746
HP:0003808	Abnormal muscle tone	3030	HADHA	ORPHA:5
HP:0003808	Abnormal muscle tone	3030	HADHA	OMIM:609015
HP:0003808	Abnormal muscle tone	3030	HADHA	OMIM:609016
HP:0003808	Abnormal muscle tone	31	ACACA	OMIM:613933
HP:0003808	Abnormal muscle tone	2218	FKTN	OMIM:253800
HP:0003808	Abnormal muscle tone	2218	FKTN	ORPHA:272
HP:0003808	Abnormal muscle tone	2218	FKTN	OMIM:611588
HP:0003808	Abnormal muscle tone	2218	FKTN	ORPHA:588
HP:0003808	Abnormal muscle tone	2218	FKTN	OMIM:236670
HP:0003808	Abnormal muscle tone	2218	FKTN	ORPHA:899
HP:0003808	Abnormal muscle tone	2218	FKTN	OMIM:613152
HP:0003808	Abnormal muscle tone	80036	TRPM3	OMIM:620224
HP:0003808	Abnormal muscle tone	1457	CSNK2A1	OMIM:617062
HP:0003808	Abnormal muscle tone	7204	TRIO	OMIM:617061
HP:0003808	Abnormal muscle tone	9325	TRIP4	OMIM:617066
HP:0003808	Abnormal muscle tone	203068	TUBB	OMIM:156610
HP:0003808	Abnormal muscle tone	60558	GUF1	OMIM:617065
HP:0003808	Abnormal muscle tone	23112	TNRC6B	OMIM:619243
HP:0003808	Abnormal muscle tone	2566	GABRG2	OMIM:618396
HP:0003808	Abnormal muscle tone	2566	GABRG2	ORPHA:36387
HP:0003808	Abnormal muscle tone	91875	TTC5	OMIM:619244
HP:0003808	Abnormal muscle tone	5625	PRODH	OMIM:239500
HP:0003808	Abnormal muscle tone	10551	AGR2	OMIM:620233
HP:0003808	Abnormal muscle tone	126792	B3GALT6	OMIM:271640
HP:0003808	Abnormal muscle tone	126792	B3GALT6	ORPHA:536467
HP:0003808	Abnormal muscle tone	126792	B3GALT6	OMIM:615349
HP:0003808	Abnormal muscle tone	55670	PEX26	ORPHA:772
HP:0003808	Abnormal muscle tone	55670	PEX26	ORPHA:44
HP:0003808	Abnormal muscle tone	5824	PEX19	ORPHA:772
HP:0003808	Abnormal muscle tone	5824	PEX19	ORPHA:44
HP:0003808	Abnormal muscle tone	5824	PEX19	OMIM:614886
HP:0003808	Abnormal muscle tone	5828	PEX2	ORPHA:772
HP:0003808	Abnormal muscle tone	5828	PEX2	ORPHA:44
HP:0003808	Abnormal muscle tone	5828	PEX2	OMIM:614866
HP:0003808	Abnormal muscle tone	8504	PEX3	ORPHA:772
HP:0003808	Abnormal muscle tone	8504	PEX3	ORPHA:44
HP:0003808	Abnormal muscle tone	9409	PEX16	ORPHA:772
HP:0003808	Abnormal muscle tone	9409	PEX16	ORPHA:44
HP:0003808	Abnormal muscle tone	8799	PEX11B	ORPHA:772
HP:0003808	Abnormal muscle tone	8799	PEX11B	ORPHA:44
HP:0003808	Abnormal muscle tone	5830	PEX5	ORPHA:772
HP:0003808	Abnormal muscle tone	5830	PEX5	ORPHA:44
HP:0003808	Abnormal muscle tone	5830	PEX5	OMIM:214110
HP:0003808	Abnormal muscle tone	5189	PEX1	ORPHA:772
HP:0003808	Abnormal muscle tone	5189	PEX1	ORPHA:44
HP:0003808	Abnormal muscle tone	5189	PEX1	OMIM:214100
HP:0003808	Abnormal muscle tone	5193	PEX12	ORPHA:772
HP:0003808	Abnormal muscle tone	5193	PEX12	ORPHA:44
HP:0003808	Abnormal muscle tone	5193	PEX12	OMIM:266510
HP:0003808	Abnormal muscle tone	5193	PEX12	OMIM:614859
HP:0003808	Abnormal muscle tone	5194	PEX13	ORPHA:772
HP:0003808	Abnormal muscle tone	5194	PEX13	ORPHA:44
HP:0003808	Abnormal muscle tone	5194	PEX13	OMIM:614885
HP:0003808	Abnormal muscle tone	5195	PEX14	ORPHA:772
HP:0003808	Abnormal muscle tone	5195	PEX14	ORPHA:44
HP:0003808	Abnormal muscle tone	5195	PEX14	OMIM:614887
HP:0003808	Abnormal muscle tone	5192	PEX10	ORPHA:772
HP:0003808	Abnormal muscle tone	5192	PEX10	ORPHA:44
HP:0003808	Abnormal muscle tone	5192	PEX10	OMIM:614870
HP:0003808	Abnormal muscle tone	5192	PEX10	OMIM:614871
HP:0003808	Abnormal muscle tone	5264	PHYH	ORPHA:773
HP:0003808	Abnormal muscle tone	5191	PEX7	ORPHA:773
HP:0003808	Abnormal muscle tone	51594	NBAS	OMIM:614800
HP:0003808	Abnormal muscle tone	8831	SYNGAP1	OMIM:612621
HP:0003808	Abnormal muscle tone	8831	SYNGAP1	ORPHA:1942
HP:0003808	Abnormal muscle tone	8831	SYNGAP1	ORPHA:544254
HP:0003808	Abnormal muscle tone	54187	NANS	OMIM:610442
HP:0003808	Abnormal muscle tone	1968	EIF2S3	ORPHA:85282
HP:0003808	Abnormal muscle tone	779	CACNA1S	OMIM:620246
HP:0003808	Abnormal muscle tone	779	CACNA1S	OMIM:170400
HP:0003808	Abnormal muscle tone	81615	TMEM163	OMIM:620243
HP:0003808	Abnormal muscle tone	10079	ATP9A	OMIM:620242
HP:0003808	Abnormal muscle tone	124093	CCDC78	OMIM:614807
HP:0003808	Abnormal muscle tone	2801	GOLGA2	OMIM:620240
HP:0003808	Abnormal muscle tone	4860	PNP	ORPHA:760
HP:0003808	Abnormal muscle tone	4860	PNP	OMIM:613179
HP:0003808	Abnormal muscle tone	64802	NMNAT1	OMIM:619260
HP:0003808	Abnormal muscle tone	64802	NMNAT1	ORPHA:65
HP:0003808	Abnormal muscle tone	56947	MFF	OMIM:617086
HP:0003808	Abnormal muscle tone	5256	PHKA2	OMIM:306000
HP:0003808	Abnormal muscle tone	5256	PHKA2	ORPHA:264580
HP:0003808	Abnormal muscle tone	25886	POC1A	OMIM:614813
HP:0003808	Abnormal muscle tone	168667	BMPER	OMIM:608022
HP:0003808	Abnormal muscle tone	64374	SIL1	OMIM:248800
HP:0003808	Abnormal muscle tone	64374	SIL1	ORPHA:559
HP:0003808	Abnormal muscle tone	2294	FOXF1	OMIM:265380
HP:0003808	Abnormal muscle tone	8450	CUL4B	OMIM:300354
HP:0003808	Abnormal muscle tone	6535	SLC6A8	OMIM:300352
HP:0003808	Abnormal muscle tone	6535	SLC6A8	ORPHA:52503
HP:0003808	Abnormal muscle tone	26960	NBEA	OMIM:619157
HP:0003808	Abnormal muscle tone	6309	SC5D	ORPHA:46059
HP:0003808	Abnormal muscle tone	6309	SC5D	OMIM:607330
HP:0003808	Abnormal muscle tone	26128	KIFBP	OMIM:609460
HP:0003808	Abnormal muscle tone	26128	KIFBP	ORPHA:66629
HP:0003808	Abnormal muscle tone	5631	PRPS1	ORPHA:411543
HP:0003808	Abnormal muscle tone	5631	PRPS1	OMIM:300661
HP:0003808	Abnormal muscle tone	25821	MTO1	OMIM:614702
HP:0003808	Abnormal muscle tone	781	CACNA2D1	OMIM:620149
HP:0003808	Abnormal muscle tone	51343	FZR1	OMIM:620145
HP:0003808	Abnormal muscle tone	79581	SLC52A2	OMIM:614707
HP:0003808	Abnormal muscle tone	64324	NSD1	ORPHA:821
HP:0003808	Abnormal muscle tone	64324	NSD1	OMIM:117550
HP:0003808	Abnormal muscle tone	29072	SETD2	ORPHA:821
HP:0003808	Abnormal muscle tone	29072	SETD2	OMIM:620155
HP:0003808	Abnormal muscle tone	10297	APC2	ORPHA:821
HP:0003808	Abnormal muscle tone	10297	APC2	OMIM:618677
HP:0003808	Abnormal muscle tone	89910	UBE3B	OMIM:244450
HP:0003808	Abnormal muscle tone	6311	ATXN2	OMIM:183090
HP:0003808	Abnormal muscle tone	6392	SDHD	OMIM:619167
HP:0003808	Abnormal muscle tone	55788	LMBRD1	OMIM:277380
HP:0003808	Abnormal muscle tone	55788	LMBRD1	ORPHA:79284
HP:0003808	Abnormal muscle tone	9640	ZNF592	ORPHA:83472
HP:0003808	Abnormal muscle tone	84942	WDR73	ORPHA:83472
HP:0003808	Abnormal muscle tone	84942	WDR73	ORPHA:2065
HP:0003808	Abnormal muscle tone	84942	WDR73	OMIM:251300
HP:0003808	Abnormal muscle tone	224	ALDH3A2	ORPHA:816
HP:0003808	Abnormal muscle tone	2314	FLII	ORPHA:819
HP:0003808	Abnormal muscle tone	23096	IQSEC2	ORPHA:819
HP:0003808	Abnormal muscle tone	23096	IQSEC2	ORPHA:397933
HP:0003808	Abnormal muscle tone	10743	RAI1	ORPHA:819
HP:0003808	Abnormal muscle tone	10743	RAI1	ORPHA:1713
HP:0003808	Abnormal muscle tone	10522	DEAF1	ORPHA:819
HP:0003808	Abnormal muscle tone	10522	DEAF1	OMIM:615828
HP:0003808	Abnormal muscle tone	10522	DEAF1	OMIM:617171
HP:0003808	Abnormal muscle tone	1717	DHCR7	ORPHA:818
HP:0003808	Abnormal muscle tone	1717	DHCR7	OMIM:270400
HP:0003808	Abnormal muscle tone	4758	NEU1	ORPHA:812
HP:0003808	Abnormal muscle tone	4758	NEU1	ORPHA:93400
HP:0003808	Abnormal muscle tone	4758	NEU1	OMIM:256550
HP:0003808	Abnormal muscle tone	150468	CKAP2L	ORPHA:3255
HP:0003808	Abnormal muscle tone	5979	RET	ORPHA:99803
HP:0003808	Abnormal muscle tone	5979	RET	OMIM:162300
HP:0003808	Abnormal muscle tone	429	ASCL1	ORPHA:99803
HP:0003808	Abnormal muscle tone	8929	PHOX2B	ORPHA:99803
HP:0003808	Abnormal muscle tone	8929	PHOX2B	ORPHA:661
HP:0003808	Abnormal muscle tone	26153	KIF26A	OMIM:620156
HP:0003808	Abnormal muscle tone	9382	COG1	OMIM:611209
HP:0003808	Abnormal muscle tone	7125	TNNC2	OMIM:620161
HP:0003808	Abnormal muscle tone	1272	CNTN1	OMIM:612540
HP:0003808	Abnormal muscle tone	55157	DARS2	ORPHA:137898
HP:0003808	Abnormal muscle tone	5080	PAX6	ORPHA:1065
HP:0003808	Abnormal muscle tone	3708	ITPR1	ORPHA:1065
HP:0003808	Abnormal muscle tone	3708	ITPR1	OMIM:117360
HP:0003808	Abnormal muscle tone	55858	TMEM165	OMIM:614727
HP:0003808	Abnormal muscle tone	3778	KCNMA1	OMIM:609446
HP:0003808	Abnormal muscle tone	9570	GOSR2	OMIM:620166
HP:0003808	Abnormal muscle tone	64087	MCCC2	OMIM:210210
HP:0003808	Abnormal muscle tone	64087	MCCC2	ORPHA:6
HP:0003808	Abnormal muscle tone	546	ATRX	ORPHA:847
HP:0003808	Abnormal muscle tone	546	ATRX	OMIM:301040
HP:0003808	Abnormal muscle tone	54675	CRLS1	OMIM:620167
HP:0003808	Abnormal muscle tone	222663	SCUBE3	OMIM:619184
HP:0003808	Abnormal muscle tone	9184	BUB3	ORPHA:1052
HP:0003808	Abnormal muscle tone	699	BUB1	ORPHA:1052
HP:0003808	Abnormal muscle tone	9702	CEP57	ORPHA:1052
HP:0003808	Abnormal muscle tone	9702	CEP57	OMIM:614114
HP:0003808	Abnormal muscle tone	9319	TRIP13	ORPHA:1052
HP:0003808	Abnormal muscle tone	701	BUB1B	ORPHA:1052
HP:0003808	Abnormal muscle tone	23036	ZNF292	OMIM:619188
HP:0003808	Abnormal muscle tone	55148	UBR7	OMIM:619189
HP:0003808	Abnormal muscle tone	1591	CYP24A1	OMIM:143880
HP:0003808	Abnormal muscle tone	23545	ATP6V0A2	OMIM:278250
HP:0003808	Abnormal muscle tone	23545	ATP6V0A2	OMIM:219200
HP:0003808	Abnormal muscle tone	11284	PNKP	OMIM:613402
HP:0003808	Abnormal muscle tone	4915	NTRK2	OMIM:613886
HP:0003808	Abnormal muscle tone	56922	MCCC1	OMIM:210200
HP:0003808	Abnormal muscle tone	56922	MCCC1	ORPHA:6
HP:0003808	Abnormal muscle tone	63894	VIPAS39	OMIM:613404
HP:0003808	Abnormal muscle tone	25942	SIN3A	OMIM:613406
HP:0003808	Abnormal muscle tone	25942	SIN3A	ORPHA:94065
HP:0003808	Abnormal muscle tone	79053	ALG8	OMIM:608104
HP:0003808	Abnormal muscle tone	79053	ALG8	ORPHA:79325
HP:0003808	Abnormal muscle tone	84947	SERAC1	OMIM:614739
HP:0003808	Abnormal muscle tone	113278	SLC52A3	OMIM:211530
HP:0003808	Abnormal muscle tone	9653	HS2ST1	OMIM:619194
HP:0003808	Abnormal muscle tone	3769	KCNJ13	ORPHA:65
HP:0003808	Abnormal muscle tone	343035	RD3	ORPHA:65
HP:0003808	Abnormal muscle tone	145226	RDH12	ORPHA:65
HP:0003808	Abnormal muscle tone	1406	CRX	ORPHA:65
HP:0003808	Abnormal muscle tone	57096	RPGRIP1	ORPHA:65
HP:0003808	Abnormal muscle tone	80184	CEP290	ORPHA:65
HP:0003808	Abnormal muscle tone	80184	CEP290	ORPHA:2318
HP:0003808	Abnormal muscle tone	80184	CEP290	OMIM:610188
HP:0003808	Abnormal muscle tone	10383	TUBB4B	ORPHA:65
HP:0003808	Abnormal muscle tone	9742	IFT140	ORPHA:65
HP:0003808	Abnormal muscle tone	9742	IFT140	OMIM:266920
HP:0003808	Abnormal muscle tone	85015	USP45	ORPHA:65
HP:0003808	Abnormal muscle tone	6121	RPE65	ORPHA:65
HP:0003808	Abnormal muscle tone	23418	CRB1	ORPHA:65
HP:0003808	Abnormal muscle tone	5130	PCYT1A	ORPHA:65
HP:0003808	Abnormal muscle tone	9657	IQCB1	ORPHA:65
HP:0003808	Abnormal muscle tone	392255	GDF6	ORPHA:65
HP:0003808	Abnormal muscle tone	23746	AIPL1	ORPHA:65
HP:0003808	Abnormal muscle tone	3000	GUCY2D	ORPHA:65
HP:0003808	Abnormal muscle tone	9227	LRAT	ORPHA:65
HP:0003808	Abnormal muscle tone	55812	SPATA7	ORPHA:65
HP:0003808	Abnormal muscle tone	7287	TULP1	ORPHA:65
HP:0003808	Abnormal muscle tone	167691	LCA5	ORPHA:65
HP:0003808	Abnormal muscle tone	3614	IMPDH1	ORPHA:65
HP:0003808	Abnormal muscle tone	7025	NR2F1	ORPHA:401777
HP:0003808	Abnormal muscle tone	7025	NR2F1	OMIM:615722
HP:0003808	Abnormal muscle tone	2629	GBA1	ORPHA:85212
HP:0003808	Abnormal muscle tone	51660	MPC1	OMIM:614741
HP:0003808	Abnormal muscle tone	64327	LMBR1	ORPHA:2378
HP:0003808	Abnormal muscle tone	84720	PIGO	OMIM:614749
HP:0003808	Abnormal muscle tone	3675	ITGA3	OMIM:614748
HP:0003808	Abnormal muscle tone	5649	RELN	OMIM:257320
HP:0003808	Abnormal muscle tone	55719	SLF2	OMIM:620184
HP:0003808	Abnormal muscle tone	55343	SLC35C1	OMIM:266265
HP:0003808	Abnormal muscle tone	79759	ZNF668	OMIM:620194
HP:0003808	Abnormal muscle tone	283209	PGM2L1	OMIM:620191
HP:0003808	Abnormal muscle tone	1737	DLAT	OMIM:245348
HP:0003808	Abnormal muscle tone	3251	HPRT1	OMIM:300322
HP:0003808	Abnormal muscle tone	4784	NFIX	OMIM:614753
HP:0003808	Abnormal muscle tone	4784	NFIX	OMIM:602535
HP:0003808	Abnormal muscle tone	182	JAG1	OMIM:118450
HP:0003808	Abnormal muscle tone	182	JAG1	OMIM:619574
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:96334
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:254531
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:254534
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:254525
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:254528
HP:0003808	Abnormal muscle tone	388015	RTL1	ORPHA:96184
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:96334
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:254531
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:254534
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:254525
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:254528
HP:0003808	Abnormal muscle tone	8788	DLK1	ORPHA:96184
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:96334
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:254531
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:254534
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:254525
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:254528
HP:0003808	Abnormal muscle tone	55384	MEG3	ORPHA:96184
HP:0003808	Abnormal muscle tone	34	ACADM	ORPHA:42
HP:0003808	Abnormal muscle tone	34	ACADM	OMIM:201450
HP:0003808	Abnormal muscle tone	3977	LIFR	ORPHA:3206
HP:0003808	Abnormal muscle tone	3977	LIFR	OMIM:601559
HP:0003808	Abnormal muscle tone	1374	CPT1A	OMIM:255120
HP:0003808	Abnormal muscle tone	1374	CPT1A	ORPHA:156
HP:0003808	Abnormal muscle tone	6611	SMS	OMIM:309583
HP:0003808	Abnormal muscle tone	6509	SLC1A4	ORPHA:447997
HP:0003808	Abnormal muscle tone	6509	SLC1A4	OMIM:616657
HP:0003808	Abnormal muscle tone	23479	ISCU	OMIM:255125
HP:0003808	Abnormal muscle tone	171023	ASXL1	OMIM:605039
HP:0003808	Abnormal muscle tone	54463	RETREG1	OMIM:201300
HP:0003808	Abnormal muscle tone	65125	WNK1	OMIM:201300
HP:0003808	Abnormal muscle tone	6335	SCN9A	OMIM:201300
HP:0003808	Abnormal muscle tone	6335	SCN9A	ORPHA:36387
HP:0003808	Abnormal muscle tone	547	KIF1A	OMIM:201300
HP:0003808	Abnormal muscle tone	22907	DHX30	OMIM:617804
HP:0003808	Abnormal muscle tone	7407	VARS1	OMIM:617802
HP:0003808	Abnormal muscle tone	9894	TELO2	OMIM:616954
HP:0003808	Abnormal muscle tone	57724	EPG5	ORPHA:1493
HP:0003808	Abnormal muscle tone	57724	EPG5	OMIM:242840
HP:0003808	Abnormal muscle tone	9230	RAB11B	OMIM:617807
HP:0003808	Abnormal muscle tone	56052	ALG1	OMIM:608540
HP:0003808	Abnormal muscle tone	56052	ALG1	ORPHA:79327
HP:0003808	Abnormal muscle tone	8518	ELP1	OMIM:223900
HP:0003808	Abnormal muscle tone	8518	ELP1	ORPHA:1764
HP:0003808	Abnormal muscle tone	3033	HADH	OMIM:231530
HP:0003808	Abnormal muscle tone	3033	HADH	OMIM:609975
HP:0003808	Abnormal muscle tone	8733	GPAA1	OMIM:617810
HP:0003808	Abnormal muscle tone	6569	SLC34A1	OMIM:616963
HP:0003808	Abnormal muscle tone	132	ADK	OMIM:614300
HP:0003808	Abnormal muscle tone	79848	CSPP1	OMIM:615636
HP:0003808	Abnormal muscle tone	79848	CSPP1	ORPHA:475
HP:0003808	Abnormal muscle tone	9759	HDAC4	ORPHA:1001
HP:0003808	Abnormal muscle tone	9759	HDAC4	OMIM:619797
HP:0003808	Abnormal muscle tone	11133	KPTN	OMIM:615637
HP:0003808	Abnormal muscle tone	11133	KPTN	ORPHA:397612
HP:0003808	Abnormal muscle tone	6334	SCN8A	OMIM:614306
HP:0003808	Abnormal muscle tone	6334	SCN8A	OMIM:614558
HP:0003808	Abnormal muscle tone	91147	TMEM67	OMIM:216360
HP:0003808	Abnormal muscle tone	91147	TMEM67	ORPHA:1454
HP:0003808	Abnormal muscle tone	91147	TMEM67	OMIM:610688
HP:0003808	Abnormal muscle tone	91147	TMEM67	ORPHA:475
HP:0003808	Abnormal muscle tone	3074	HEXB	OMIM:268800
HP:0003808	Abnormal muscle tone	27034	ACAD8	OMIM:611283
HP:0003808	Abnormal muscle tone	27034	ACAD8	ORPHA:79159
HP:0003808	Abnormal muscle tone	1806	DPYD	OMIM:274270
HP:0003808	Abnormal muscle tone	54931	TRMT10C	OMIM:616974
HP:0003808	Abnormal muscle tone	2902	GRIN1	OMIM:617820
HP:0003808	Abnormal muscle tone	2902	GRIN1	OMIM:614254
HP:0003808	Abnormal muscle tone	2902	GRIN1	OMIM:619814
HP:0003808	Abnormal muscle tone	2782	GNB1	OMIM:616973
HP:0003808	Abnormal muscle tone	8085	KMT2D	ORPHA:2322
HP:0003808	Abnormal muscle tone	8085	KMT2D	OMIM:147920
HP:0003808	Abnormal muscle tone	7403	KDM6A	ORPHA:2322
HP:0003808	Abnormal muscle tone	7403	KDM6A	OMIM:300867
HP:0003808	Abnormal muscle tone	7403	KDM6A	OMIM:147920
HP:0003808	Abnormal muscle tone	3097	HIVEP2	OMIM:616977
HP:0003808	Abnormal muscle tone	10651	MTX2	ORPHA:90153
HP:0003808	Abnormal muscle tone	6638	SNRPN	ORPHA:177904
HP:0003808	Abnormal muscle tone	6638	SNRPN	ORPHA:177901
HP:0003808	Abnormal muscle tone	6638	SNRPN	OMIM:105830
HP:0003808	Abnormal muscle tone	6638	SNRPN	ORPHA:98754
HP:0003808	Abnormal muscle tone	4692	NDN	ORPHA:177904
HP:0003808	Abnormal muscle tone	4692	NDN	ORPHA:177901
HP:0003808	Abnormal muscle tone	4692	NDN	ORPHA:98754
HP:0003808	Abnormal muscle tone	54551	MAGEL2	ORPHA:177904
HP:0003808	Abnormal muscle tone	54551	MAGEL2	ORPHA:177901
HP:0003808	Abnormal muscle tone	54551	MAGEL2	ORPHA:98754
HP:0003808	Abnormal muscle tone	4948	OCA2	ORPHA:177904
HP:0003808	Abnormal muscle tone	4948	OCA2	ORPHA:177901
HP:0003808	Abnormal muscle tone	4948	OCA2	ORPHA:98754
HP:0003808	Abnormal muscle tone	2332	FMR1	ORPHA:449291
HP:0003808	Abnormal muscle tone	2332	FMR1	ORPHA:261483
HP:0003808	Abnormal muscle tone	2332	FMR1	ORPHA:908
HP:0003808	Abnormal muscle tone	55906	ZC4H2	OMIM:314580
HP:0003808	Abnormal muscle tone	23732	FRRS1L	OMIM:616981
HP:0003808	Abnormal muscle tone	388753	COA6	OMIM:616501
HP:0003808	Abnormal muscle tone	2068	ERCC2	ORPHA:1466
HP:0003808	Abnormal muscle tone	2067	ERCC1	ORPHA:1466
HP:0003808	Abnormal muscle tone	2074	ERCC6	ORPHA:1466
HP:0003808	Abnormal muscle tone	2074	ERCC6	ORPHA:90321
HP:0003808	Abnormal muscle tone	2074	ERCC6	OMIM:214150
HP:0003808	Abnormal muscle tone	2073	ERCC5	ORPHA:1466
HP:0003808	Abnormal muscle tone	6709	SPTAN1	OMIM:613477
HP:0003808	Abnormal muscle tone	4358	MPV17	OMIM:256810
HP:0003808	Abnormal muscle tone	6663	SOX10	ORPHA:163746
HP:0003808	Abnormal muscle tone	6663	SOX10	OMIM:609136
HP:0003808	Abnormal muscle tone	6663	SOX10	ORPHA:478
HP:0003808	Abnormal muscle tone	91137	SLC25A46	OMIM:616505
HP:0003808	Abnormal muscle tone	91137	SLC25A46	ORPHA:2254
HP:0003808	Abnormal muscle tone	9378	NRXN1	OMIM:614325
HP:0003808	Abnormal muscle tone	6678	SPARC	OMIM:616507
HP:0003808	Abnormal muscle tone	79583	TMEM231	ORPHA:2318
HP:0003808	Abnormal muscle tone	51524	TMEM138	ORPHA:2318
HP:0003808	Abnormal muscle tone	23090	ZNF423	ORPHA:2318
HP:0003808	Abnormal muscle tone	57545	CC2D2A	ORPHA:2318
HP:0003808	Abnormal muscle tone	57545	CC2D2A	ORPHA:1454
HP:0003808	Abnormal muscle tone	197131	UBR1	ORPHA:2315
HP:0003808	Abnormal muscle tone	197131	UBR1	OMIM:243800
HP:0003808	Abnormal muscle tone	4982	TNFRSF11B	OMIM:239000
HP:0003808	Abnormal muscle tone	4854	NOTCH3	ORPHA:2789
HP:0003808	Abnormal muscle tone	4854	NOTCH3	OMIM:130720
HP:0003808	Abnormal muscle tone	326625	MMAB	OMIM:251110
HP:0003808	Abnormal muscle tone	9361	LONP1	ORPHA:1458
HP:0003808	Abnormal muscle tone	9361	LONP1	OMIM:600373
HP:0003808	Abnormal muscle tone	9361	LONP1	ORPHA:79243
HP:0003808	Abnormal muscle tone	10367	MICU1	OMIM:615673
HP:0003808	Abnormal muscle tone	6812	STXBP1	OMIM:612164
HP:0003808	Abnormal muscle tone	55180	LINS1	OMIM:614340
HP:0003808	Abnormal muscle tone	1213	CLTC	OMIM:617854
HP:0003808	Abnormal muscle tone	85440	DOCK7	ORPHA:411986
HP:0003808	Abnormal muscle tone	85440	DOCK7	OMIM:615859
HP:0003808	Abnormal muscle tone	28514	DLL1	OMIM:618709
HP:0003808	Abnormal muscle tone	6134	RPL10	ORPHA:435938
HP:0003808	Abnormal muscle tone	6134	RPL10	OMIM:300998
HP:0003808	Abnormal muscle tone	122553	TRAPPC6B	OMIM:617862
HP:0003808	Abnormal muscle tone	57688	ZSWIM6	OMIM:617865
HP:0003808	Abnormal muscle tone	57570	TRMT5	OMIM:616539
HP:0003808	Abnormal muscle tone	60482	SLC5A7	ORPHA:98914
HP:0003808	Abnormal muscle tone	60482	SLC5A7	OMIM:617143
HP:0003808	Abnormal muscle tone	4649	MYO9A	ORPHA:98914
HP:0003808	Abnormal muscle tone	1305	COL13A1	ORPHA:98914
HP:0003808	Abnormal muscle tone	1305	COL13A1	OMIM:616720
HP:0003808	Abnormal muscle tone	6576	SLC25A1	ORPHA:98914
HP:0003808	Abnormal muscle tone	6576	SLC25A1	OMIM:615182
HP:0003808	Abnormal muscle tone	375790	AGRN	ORPHA:98914
HP:0003808	Abnormal muscle tone	127833	SYT2	ORPHA:98914
HP:0003808	Abnormal muscle tone	127833	SYT2	OMIM:619461
HP:0003808	Abnormal muscle tone	6572	SLC18A3	ORPHA:98914
HP:0003808	Abnormal muscle tone	6572	SLC18A3	OMIM:617239
HP:0003808	Abnormal muscle tone	6616	SNAP25	ORPHA:98914
HP:0003808	Abnormal muscle tone	1605	DAG1	OMIM:616538
HP:0003808	Abnormal muscle tone	1605	DAG1	ORPHA:899
HP:0003808	Abnormal muscle tone	5261	PHKG2	OMIM:613027
HP:0003808	Abnormal muscle tone	5261	PHKG2	ORPHA:264580
HP:0003808	Abnormal muscle tone	8292	COLQ	ORPHA:98915
HP:0003808	Abnormal muscle tone	8292	COLQ	OMIM:603034
HP:0003808	Abnormal muscle tone	3913	LAMB2	ORPHA:98915
HP:0003808	Abnormal muscle tone	3913	LAMB2	OMIM:609049
HP:0003808	Abnormal muscle tone	139285	AMER1	OMIM:300373
HP:0003808	Abnormal muscle tone	51	ACOX1	OMIM:264470
HP:0003808	Abnormal muscle tone	51	ACOX1	ORPHA:2971
HP:0003808	Abnormal muscle tone	10577	NPC2	OMIM:607625
HP:0003808	Abnormal muscle tone	650	BMP2	OMIM:617877
HP:0003808	Abnormal muscle tone	650	BMP2	ORPHA:261295
HP:0003808	Abnormal muscle tone	4724	NDUFS4	OMIM:252010
HP:0003808	Abnormal muscle tone	4724	NDUFS4	ORPHA:255241
HP:0003808	Abnormal muscle tone	4724	NDUFS4	ORPHA:2609
HP:0003808	Abnormal muscle tone	8777	MPDZ	OMIM:615219
HP:0003808	Abnormal muscle tone	5449	POU1F1	OMIM:613038
HP:0003808	Abnormal muscle tone	5449	POU1F1	ORPHA:226307
HP:0003808	Abnormal muscle tone	6496	SIX3	OMIM:157170
HP:0003808	Abnormal muscle tone	10210	TOPORS	ORPHA:2754
HP:0003808	Abnormal muscle tone	9851	KIAA0753	ORPHA:2754
HP:0003808	Abnormal muscle tone	9851	KIAA0753	OMIM:619476
HP:0003808	Abnormal muscle tone	9851	KIAA0753	OMIM:619479
HP:0003808	Abnormal muscle tone	26123	TCTN3	ORPHA:2754
HP:0003808	Abnormal muscle tone	5147	PDE6D	ORPHA:2754
HP:0003808	Abnormal muscle tone	65250	CPLANE1	ORPHA:2754
HP:0003808	Abnormal muscle tone	65250	CPLANE1	OMIM:277170
HP:0003808	Abnormal muscle tone	65250	CPLANE1	ORPHA:475
HP:0003808	Abnormal muscle tone	8481	OFD1	ORPHA:2754
HP:0003808	Abnormal muscle tone	8481	OFD1	OMIM:300209
HP:0003808	Abnormal muscle tone	317662	FAM149B1	ORPHA:2754
HP:0003808	Abnormal muscle tone	374654	KIF7	ORPHA:2754
HP:0003808	Abnormal muscle tone	374654	KIF7	OMIM:200990
HP:0003808	Abnormal muscle tone	2182	ACSL4	OMIM:300387
HP:0003808	Abnormal muscle tone	2182	ACSL4	ORPHA:86818
HP:0003808	Abnormal muscle tone	51763	INPP5K	OMIM:617404
HP:0003808	Abnormal muscle tone	51763	INPP5K	ORPHA:559
HP:0003808	Abnormal muscle tone	3636	INPPL1	ORPHA:2746
HP:0003808	Abnormal muscle tone	3636	INPPL1	OMIM:258480
HP:0003808	Abnormal muscle tone	246329	STAC3	OMIM:255995
HP:0003808	Abnormal muscle tone	246329	STAC3	ORPHA:168572
HP:0003808	Abnormal muscle tone	1278	COL1A2	ORPHA:1899
HP:0003808	Abnormal muscle tone	2137	EXTL3	ORPHA:508533
HP:0003808	Abnormal muscle tone	7528	YY1	ORPHA:506358
HP:0003808	Abnormal muscle tone	7528	YY1	OMIM:617557
HP:0003808	Abnormal muscle tone	10617	STAMBP	OMIM:614261
HP:0003808	Abnormal muscle tone	8367	H4C5	OMIM:619950
HP:0003808	Abnormal muscle tone	8294	H4C9	OMIM:619951
HP:0003808	Abnormal muscle tone	57128	LYRM4	OMIM:615595
HP:0003808	Abnormal muscle tone	5728	PTEN	OMIM:605309
HP:0003808	Abnormal muscle tone	5728	PTEN	ORPHA:109
HP:0003808	Abnormal muscle tone	9853	RUSC2	OMIM:617773
HP:0003808	Abnormal muscle tone	3703	STT3A	OMIM:615596
HP:0003808	Abnormal muscle tone	343450	KCNT2	OMIM:617771
HP:0003808	Abnormal muscle tone	201595	STT3B	OMIM:615597
HP:0003808	Abnormal muscle tone	1947	EFNB1	ORPHA:1520
HP:0003808	Abnormal muscle tone	1947	EFNB1	OMIM:304110
HP:0003808	Abnormal muscle tone	1355	COX15	OMIM:615119
HP:0003808	Abnormal muscle tone	1355	COX15	ORPHA:255241
HP:0003808	Abnormal muscle tone	55627	SMPD4	OMIM:618622
HP:0003808	Abnormal muscle tone	23417	MLYCD	OMIM:248360
HP:0003808	Abnormal muscle tone	81857	MED25	OMIM:616449
HP:0003808	Abnormal muscle tone	81857	MED25	ORPHA:464738
HP:0003808	Abnormal muscle tone	22800	RRAS2	OMIM:618624
HP:0003808	Abnormal muscle tone	22800	RRAS2	ORPHA:648
HP:0003808	Abnormal muscle tone	55733	HHAT	OMIM:600092
HP:0003808	Abnormal muscle tone	4047	LSS	ORPHA:2850
HP:0003808	Abnormal muscle tone	197	AHSG	ORPHA:2850
HP:0003808	Abnormal muscle tone	3694	ITGB6	ORPHA:2850
HP:0003808	Abnormal muscle tone	1161	ERCC8	ORPHA:90321
HP:0003808	Abnormal muscle tone	2072	ERCC4	ORPHA:90321
HP:0003808	Abnormal muscle tone	790	CAD	OMIM:616457
HP:0003808	Abnormal muscle tone	65082	VPS33A	OMIM:617303
HP:0003808	Abnormal muscle tone	65082	VPS33A	ORPHA:505248
HP:0003808	Abnormal muscle tone	526	ATP6V1B2	OMIM:616455
HP:0003808	Abnormal muscle tone	10730	YME1L1	OMIM:617302
HP:0003808	Abnormal muscle tone	129563	DIS3L2	ORPHA:2849
HP:0003808	Abnormal muscle tone	28960	DCPS	OMIM:616459
HP:0003808	Abnormal muscle tone	4286	MITF	OMIM:617306
HP:0003808	Abnormal muscle tone	9200	HACD1	OMIM:619967
HP:0003808	Abnormal muscle tone	9200	HACD1	ORPHA:2020
HP:0003808	Abnormal muscle tone	120227	CYP2R1	OMIM:600081
HP:0003808	Abnormal muscle tone	3908	LAMA2	ORPHA:258
HP:0003808	Abnormal muscle tone	3908	LAMA2	OMIM:607855
HP:0003808	Abnormal muscle tone	57231	SNX14	ORPHA:397709
HP:0003808	Abnormal muscle tone	57231	SNX14	OMIM:616354
HP:0003808	Abnormal muscle tone	79147	FKRP	OMIM:606612
HP:0003808	Abnormal muscle tone	79147	FKRP	ORPHA:588
HP:0003808	Abnormal muscle tone	79147	FKRP	OMIM:236670
HP:0003808	Abnormal muscle tone	79147	FKRP	ORPHA:899
HP:0003808	Abnormal muscle tone	284058	KANSL1	ORPHA:363958
HP:0003808	Abnormal muscle tone	284058	KANSL1	ORPHA:363965
HP:0003808	Abnormal muscle tone	55870	ASH1L	OMIM:617796
HP:0003808	Abnormal muscle tone	91869	RFT1	ORPHA:244310
HP:0003808	Abnormal muscle tone	91869	RFT1	OMIM:612015
HP:0003808	Abnormal muscle tone	816	CAMK2B	OMIM:617799
HP:0003808	Abnormal muscle tone	815	CAMK2A	OMIM:617798
HP:0003808	Abnormal muscle tone	815	CAMK2A	OMIM:618095
HP:0003808	Abnormal muscle tone	1289	COL5A1	ORPHA:287
HP:0003808	Abnormal muscle tone	1290	COL5A2	ORPHA:287
HP:0003808	Abnormal muscle tone	5354	PLP1	ORPHA:280210
HP:0003808	Abnormal muscle tone	5354	PLP1	ORPHA:280219
HP:0003808	Abnormal muscle tone	5354	PLP1	ORPHA:280229
HP:0003808	Abnormal muscle tone	5354	PLP1	OMIM:312080
HP:0003808	Abnormal muscle tone	652	BMP4	OMIM:607932
HP:0003808	Abnormal muscle tone	10815	CPLX1	ORPHA:280
HP:0003808	Abnormal muscle tone	10815	CPLX1	OMIM:617976
HP:0003808	Abnormal muscle tone	54872	PIGG	ORPHA:280
HP:0003808	Abnormal muscle tone	54872	PIGG	ORPHA:488635
HP:0003808	Abnormal muscle tone	7469	NELFA	ORPHA:280
HP:0003808	Abnormal muscle tone	1487	CTBP1	ORPHA:280
HP:0003808	Abnormal muscle tone	1487	CTBP1	OMIM:617915
HP:0003808	Abnormal muscle tone	3954	LETM1	ORPHA:280
HP:0003808	Abnormal muscle tone	3954	LETM1	OMIM:620089
HP:0003808	Abnormal muscle tone	1303	COL12A1	OMIM:616471
HP:0003808	Abnormal muscle tone	1303	COL12A1	ORPHA:536516
HP:0003808	Abnormal muscle tone	283987	HID1	OMIM:619983
HP:0003808	Abnormal muscle tone	1656	DDX6	OMIM:618653
HP:0003808	Abnormal muscle tone	1501	CTNND2	ORPHA:281
HP:0003808	Abnormal muscle tone	9037	SEMA5A	ORPHA:281
HP:0003808	Abnormal muscle tone	497661	C18orf32	OMIM:619985
HP:0003808	Abnormal muscle tone	57178	ZMIZ1	OMIM:618659
HP:0003808	Abnormal muscle tone	2783	GNB2	OMIM:619503
HP:0003808	Abnormal muscle tone	8642	DCHS1	OMIM:601390
HP:0003808	Abnormal muscle tone	8241	RBM10	OMIM:311900
HP:0003808	Abnormal muscle tone	1621	DBH	ORPHA:230
HP:0003808	Abnormal muscle tone	1621	DBH	OMIM:223360
HP:0003808	Abnormal muscle tone	56006	SMG9	OMIM:619995
HP:0003808	Abnormal muscle tone	1182	CLCN3	OMIM:619512
HP:0003808	Abnormal muscle tone	84879	MFSD2A	OMIM:616486
HP:0003808	Abnormal muscle tone	6329	SCN4A	OMIM:170400
HP:0003808	Abnormal muscle tone	7862	BRPF1	OMIM:617333
HP:0003808	Abnormal muscle tone	54914	FOCAD	OMIM:619991
HP:0003808	Abnormal muscle tone	55699	IARS2	OMIM:616007
HP:0003808	Abnormal muscle tone	3481	IGF2	OMIM:616489
HP:0003808	Abnormal muscle tone	4191	MDH2	OMIM:617339
HP:0003808	Abnormal muscle tone	7337	UBE3A	OMIM:105830
HP:0003808	Abnormal muscle tone	7337	UBE3A	ORPHA:238446
HP:0003808	Abnormal muscle tone	166785	MMAA	OMIM:251100
HP:0003808	Abnormal muscle tone	5551	PRF1	OMIM:603553
HP:0003808	Abnormal muscle tone	8676	STX11	OMIM:603552
HP:0003808	Abnormal muscle tone	26137	ZBTB20	OMIM:259050
HP:0003808	Abnormal muscle tone	7750	ZMYM2	OMIM:619522
HP:0003808	Abnormal muscle tone	4849	CNOT3	OMIM:618672
HP:0003808	Abnormal muscle tone	22	ABCB7	ORPHA:2802
HP:0003808	Abnormal muscle tone	2542	SLC37A4	OMIM:619525
HP:0003808	Abnormal muscle tone	57492	ARID1B	ORPHA:251056
HP:0003808	Abnormal muscle tone	57492	ARID1B	OMIM:135900
HP:0003808	Abnormal muscle tone	57104	PNPLA2	OMIM:610717
HP:0003808	Abnormal muscle tone	3835	KIF22	OMIM:603546
HP:0003808	Abnormal muscle tone	79989	IFT56	OMIM:619534
HP:0003808	Abnormal muscle tone	2006	ELN	ORPHA:90348
HP:0003808	Abnormal muscle tone	2006	ELN	OMIM:194050
HP:0003808	Abnormal muscle tone	2006	ELN	ORPHA:904
HP:0003808	Abnormal muscle tone	10516	FBLN5	ORPHA:90348
HP:0003808	Abnormal muscle tone	3785	KCNQ2	ORPHA:439218
HP:0003808	Abnormal muscle tone	3785	KCNQ2	OMIM:613720
HP:0003808	Abnormal muscle tone	1107	CHD3	OMIM:618205
HP:0003808	Abnormal muscle tone	23189	KANK1	OMIM:612900
HP:0003808	Abnormal muscle tone	6513	SLC2A1	ORPHA:1942
HP:0003808	Abnormal muscle tone	1173	AP2M1	ORPHA:1942
HP:0003808	Abnormal muscle tone	6323	SCN1A	ORPHA:1942
HP:0003808	Abnormal muscle tone	6323	SCN1A	ORPHA:36387
HP:0003808	Abnormal muscle tone	6323	SCN1A	OMIM:619317
HP:0003808	Abnormal muscle tone	340533	NEXMIF	ORPHA:1942
HP:0003808	Abnormal muscle tone	340533	NEXMIF	OMIM:300912
HP:0003808	Abnormal muscle tone	1106	CHD2	ORPHA:1942
HP:0003808	Abnormal muscle tone	6529	SLC6A1	ORPHA:1942
HP:0003808	Abnormal muscle tone	6529	SLC6A1	OMIM:616421
HP:0003808	Abnormal muscle tone	9896	FIG4	OMIM:216340
HP:0003808	Abnormal muscle tone	9896	FIG4	ORPHA:208441
HP:0003808	Abnormal muscle tone	6595	SMARCA2	OMIM:601358
HP:0003808	Abnormal muscle tone	6595	SMARCA2	OMIM:619293
HP:0003808	Abnormal muscle tone	6261	RYR1	OMIM:619542
HP:0003808	Abnormal muscle tone	6261	RYR1	ORPHA:597
HP:0003808	Abnormal muscle tone	6261	RYR1	OMIM:255320
HP:0003808	Abnormal muscle tone	8621	CDK13	OMIM:617360
HP:0003808	Abnormal muscle tone	133686	NADK2	OMIM:616034
HP:0003808	Abnormal muscle tone	164	AP1G1	OMIM:619548
HP:0003808	Abnormal muscle tone	164	AP1G1	OMIM:619467
HP:0003808	Abnormal muscle tone	79751	SLC25A22	ORPHA:1935
HP:0003808	Abnormal muscle tone	79751	SLC25A22	OMIM:609304
HP:0003808	Abnormal muscle tone	150094	SIK1	ORPHA:1935
HP:0003808	Abnormal muscle tone	8905	AP1S2	OMIM:304340
HP:0003808	Abnormal muscle tone	8905	AP1S2	ORPHA:85335
HP:0003808	Abnormal muscle tone	2879	GPX4	OMIM:250220
HP:0003808	Abnormal muscle tone	3912	LAMB1	OMIM:615191
HP:0003808	Abnormal muscle tone	4728	NDUFS8	OMIM:618222
HP:0003808	Abnormal muscle tone	4728	NDUFS8	ORPHA:255241
HP:0003808	Abnormal muscle tone	4728	NDUFS8	ORPHA:2609
HP:0003808	Abnormal muscle tone	4723	NDUFV1	OMIM:618225
HP:0003808	Abnormal muscle tone	4723	NDUFV1	ORPHA:255241
HP:0003808	Abnormal muscle tone	4723	NDUFV1	ORPHA:2609
HP:0003808	Abnormal muscle tone	30000	TNPO2	OMIM:619556
HP:0003808	Abnormal muscle tone	498	ATP5F1A	OMIM:616045
HP:0003808	Abnormal muscle tone	79705	LRRK1	OMIM:615198
HP:0003808	Abnormal muscle tone	57102	C12orf4	OMIM:618221
HP:0003808	Abnormal muscle tone	23314	SATB2	ORPHA:251028
HP:0003808	Abnormal muscle tone	23314	SATB2	ORPHA:251019
HP:0003808	Abnormal muscle tone	23314	SATB2	OMIM:612313
HP:0003808	Abnormal muscle tone	4719	NDUFS1	OMIM:618226
HP:0003808	Abnormal muscle tone	4719	NDUFS1	ORPHA:255241
HP:0003808	Abnormal muscle tone	4719	NDUFS1	ORPHA:2609
HP:0003808	Abnormal muscle tone	55628	ZNF407	OMIM:619557
HP:0003808	Abnormal muscle tone	1756	DMD	OMIM:310200
HP:0003808	Abnormal muscle tone	4720	NDUFS2	OMIM:618228
HP:0003808	Abnormal muscle tone	4720	NDUFS2	ORPHA:255241
HP:0003808	Abnormal muscle tone	4720	NDUFS2	ORPHA:2609
HP:0003808	Abnormal muscle tone	81570	CLPB	ORPHA:445038
HP:0003808	Abnormal muscle tone	81570	CLPB	OMIM:619835
HP:0003808	Abnormal muscle tone	81570	CLPB	OMIM:616271
HP:0003808	Abnormal muscle tone	1908	EDN3	ORPHA:661
HP:0003808	Abnormal muscle tone	2668	GDNF	ORPHA:661
HP:0003808	Abnormal muscle tone	627	BDNF	ORPHA:661
HP:0003808	Abnormal muscle tone	283446	MYO1H	ORPHA:661
HP:0003808	Abnormal muscle tone	283446	MYO1H	OMIM:619482
HP:0003808	Abnormal muscle tone	91942	NDUFAF2	OMIM:618233
HP:0003808	Abnormal muscle tone	91942	NDUFAF2	ORPHA:255241
HP:0003808	Abnormal muscle tone	91942	NDUFAF2	ORPHA:2609
HP:0003808	Abnormal muscle tone	1387	CREBBP	ORPHA:353281
HP:0003808	Abnormal muscle tone	1387	CREBBP	ORPHA:353277
HP:0003808	Abnormal muscle tone	1387	CREBBP	OMIM:180849
HP:0003808	Abnormal muscle tone	51103	NDUFAF1	OMIM:618234
HP:0003808	Abnormal muscle tone	51103	NDUFAF1	ORPHA:2609
HP:0003808	Abnormal muscle tone	478	ATP1A3	OMIM:601338
HP:0003808	Abnormal muscle tone	478	ATP1A3	ORPHA:2131
HP:0003808	Abnormal muscle tone	79868	ALG13	OMIM:300884
HP:0003808	Abnormal muscle tone	8867	SYNJ1	OMIM:617389
HP:0003808	Abnormal muscle tone	10659	CELF2	OMIM:619561
HP:0003808	Abnormal muscle tone	3745	KCNB1	OMIM:616056
HP:0003808	Abnormal muscle tone	443	ASPA	ORPHA:314918
HP:0003808	Abnormal muscle tone	443	ASPA	ORPHA:314911
HP:0003808	Abnormal muscle tone	443	ASPA	OMIM:271900
HP:0003808	Abnormal muscle tone	2033	EP300	ORPHA:353284
HP:0003808	Abnormal muscle tone	2033	EP300	OMIM:180849
HP:0003808	Abnormal muscle tone	137682	NDUFAF6	OMIM:618239
HP:0003808	Abnormal muscle tone	137682	NDUFAF6	ORPHA:255241
HP:0003808	Abnormal muscle tone	10166	SLC25A15	OMIM:238970
HP:0003808	Abnormal muscle tone	1741	DLG3	OMIM:300850
HP:0003808	Abnormal muscle tone	55967	NDUFA12	OMIM:618244
HP:0003808	Abnormal muscle tone	55967	NDUFA12	ORPHA:255241
HP:0003808	Abnormal muscle tone	57551	TAOK1	OMIM:619575
HP:0003808	Abnormal muscle tone	4715	NDUFB9	OMIM:618245
HP:0003808	Abnormal muscle tone	4715	NDUFB9	ORPHA:2609
HP:0003808	Abnormal muscle tone	56915	EXOSC5	OMIM:619576
HP:0003808	Abnormal muscle tone	22796	COG2	OMIM:617395
HP:0003808	Abnormal muscle tone	4709	NDUFB3	OMIM:618246
HP:0003808	Abnormal muscle tone	4709	NDUFB3	ORPHA:2609
HP:0003808	Abnormal muscle tone	112939	NACC1	OMIM:617393
HP:0003808	Abnormal muscle tone	55572	FOXRED1	OMIM:618241
HP:0003808	Abnormal muscle tone	55572	FOXRED1	ORPHA:255241
HP:0003808	Abnormal muscle tone	55572	FOXRED1	ORPHA:2609
HP:0003808	Abnormal muscle tone	8260	NAA10	OMIM:300855
HP:0003808	Abnormal muscle tone	8260	NAA10	OMIM:309800
HP:0003808	Abnormal muscle tone	4705	NDUFA10	OMIM:618243
HP:0003808	Abnormal muscle tone	4705	NDUFA10	ORPHA:255241
HP:0003808	Abnormal muscle tone	7169	TPM2	OMIM:609285
HP:0003808	Abnormal muscle tone	7169	TPM2	ORPHA:2020
HP:0003808	Abnormal muscle tone	123263	MTFMT	OMIM:618248
HP:0003808	Abnormal muscle tone	123263	MTFMT	OMIM:614947
HP:0003808	Abnormal muscle tone	123263	MTFMT	ORPHA:255241
HP:0003808	Abnormal muscle tone	29920	PYCR2	ORPHA:481152
HP:0003808	Abnormal muscle tone	9719	ADAMTSL2	ORPHA:1901
HP:0003808	Abnormal muscle tone	9509	ADAMTS2	ORPHA:1901
HP:0003808	Abnormal muscle tone	23203	PMPCA	OMIM:213200
HP:0003808	Abnormal muscle tone	23203	PMPCA	ORPHA:1170
HP:0003808	Abnormal muscle tone	22845	DOLK	OMIM:610768
HP:0003808	Abnormal muscle tone	4864	NPC1	OMIM:257220
HP:0003808	Abnormal muscle tone	5351	PLOD1	ORPHA:1900
HP:0003808	Abnormal muscle tone	5351	PLOD1	OMIM:225400
HP:0003808	Abnormal muscle tone	55750	AGK	OMIM:212350
HP:0003808	Abnormal muscle tone	8604	SLC25A12	OMIM:612949
HP:0003808	Abnormal muscle tone	2898	GRIK2	OMIM:619580
HP:0003808	Abnormal muscle tone	80324	PUS1	OMIM:600462
HP:0003808	Abnormal muscle tone	80324	PUS1	ORPHA:2598
HP:0003808	Abnormal muscle tone	112812	FDX2	OMIM:251900
HP:0003808	Abnormal muscle tone	9496	TBX4	ORPHA:261279
HP:0003808	Abnormal muscle tone	51300	TIMMDC1	OMIM:618251
HP:0003808	Abnormal muscle tone	51300	TIMMDC1	ORPHA:2609
HP:0003808	Abnormal muscle tone	80173	IFT74	OMIM:619582
HP:0003808	Abnormal muscle tone	5277	PIGA	OMIM:300868
HP:0003808	Abnormal muscle tone	5277	PIGA	OMIM:301072
HP:0003808	Abnormal muscle tone	26040	SETBP1	OMIM:616078
HP:0003808	Abnormal muscle tone	2475	MTOR	ORPHA:457485
HP:0003808	Abnormal muscle tone	6023	RMRP	OMIM:607095
HP:0003808	Abnormal muscle tone	6023	RMRP	ORPHA:175
HP:0003808	Abnormal muscle tone	5250	SLC25A3	OMIM:610773
HP:0003808	Abnormal muscle tone	5250	SLC25A3	ORPHA:91130
HP:0003808	Abnormal muscle tone	2683	B4GALT1	OMIM:607091
HP:0003808	Abnormal muscle tone	4990	SIX6	OMIM:206900
HP:0003808	Abnormal muscle tone	6657	SOX2	OMIM:206900
HP:0003808	Abnormal muscle tone	10771	ZMYND11	OMIM:616083
HP:0003808	Abnormal muscle tone	139411	PTCHD1	OMIM:300830
HP:0003808	Abnormal muscle tone	57003	CCDC47	OMIM:618268
HP:0003808	Abnormal muscle tone	51095	TRNT1	OMIM:616084
HP:0003808	Abnormal muscle tone	10847	SRCAP	OMIM:619595
HP:0003808	Abnormal muscle tone	55526	DHTKD1	OMIM:204750
HP:0003808	Abnormal muscle tone	4983	OPHN1	ORPHA:137831
HP:0003808	Abnormal muscle tone	1836	SLC26A2	ORPHA:628
HP:0003808	Abnormal muscle tone	113189	CHST14	OMIM:601776
HP:0003808	Abnormal muscle tone	6197	RPS6KA3	OMIM:300844
HP:0003808	Abnormal muscle tone	6197	RPS6KA3	ORPHA:276630
HP:0003808	Abnormal muscle tone	6197	RPS6KA3	OMIM:303600
HP:0003808	Abnormal muscle tone	6197	RPS6KA3	ORPHA:192
HP:0003808	Abnormal muscle tone	23287	AGTPBP1	OMIM:618276
HP:0003808	Abnormal muscle tone	23287	AGTPBP1	ORPHA:2254
HP:0003808	Abnormal muscle tone	118924	FRA10AC1	OMIM:620113
HP:0003808	Abnormal muscle tone	8911	CACNA1I	OMIM:620114
HP:0003808	Abnormal muscle tone	11014	KDELR2	OMIM:619131
HP:0003808	Abnormal muscle tone	4781	NFIB	OMIM:618286
HP:0003808	Abnormal muscle tone	4668	NAGA	OMIM:609241
HP:0003808	Abnormal muscle tone	4668	NAGA	ORPHA:79279
HP:0003808	Abnormal muscle tone	9487	PIGL	OMIM:280000
HP:0003808	Abnormal muscle tone	867	CBL	ORPHA:648
HP:0003808	Abnormal muscle tone	867	CBL	OMIM:613563
HP:0003808	Abnormal muscle tone	8216	LZTR1	ORPHA:648
HP:0003808	Abnormal muscle tone	6016	RIT1	ORPHA:648
HP:0003808	Abnormal muscle tone	6237	RRAS	ORPHA:648
HP:0003808	Abnormal muscle tone	5894	RAF1	ORPHA:648
HP:0003808	Abnormal muscle tone	22808	MRAS	ORPHA:648
HP:0003808	Abnormal muscle tone	22808	MRAS	OMIM:618499
HP:0003808	Abnormal muscle tone	3845	KRAS	ORPHA:648
HP:0003808	Abnormal muscle tone	3845	KRAS	ORPHA:3339
HP:0003808	Abnormal muscle tone	3845	KRAS	ORPHA:144
HP:0003808	Abnormal muscle tone	3845	KRAS	ORPHA:2612
HP:0003808	Abnormal muscle tone	3845	KRAS	ORPHA:1340
HP:0003808	Abnormal muscle tone	200734	SPRED2	ORPHA:648
HP:0003808	Abnormal muscle tone	200734	SPRED2	OMIM:619745
HP:0003808	Abnormal muscle tone	4893	NRAS	ORPHA:648
HP:0003808	Abnormal muscle tone	4893	NRAS	ORPHA:2612
HP:0003808	Abnormal muscle tone	6654	SOS1	ORPHA:648
HP:0003808	Abnormal muscle tone	6655	SOS2	ORPHA:648
HP:0003808	Abnormal muscle tone	5781	PTPN11	ORPHA:648
HP:0003808	Abnormal muscle tone	5922	RASA2	ORPHA:648
HP:0003808	Abnormal muscle tone	4693	NDP	ORPHA:649
HP:0003808	Abnormal muscle tone	1719	DHFR	OMIM:613839
HP:0003808	Abnormal muscle tone	84153	RNASEH2C	OMIM:610329
HP:0003808	Abnormal muscle tone	5727	PTCH1	ORPHA:77301
HP:0003808	Abnormal muscle tone	1795	DOCK3	OMIM:618292
HP:0003808	Abnormal muscle tone	5257	PHKB	OMIM:261750
HP:0003808	Abnormal muscle tone	5257	PHKB	ORPHA:79240
HP:0003808	Abnormal muscle tone	3735	KARS1	OMIM:619147
HP:0003808	Abnormal muscle tone	27161	AGO2	OMIM:619149
HP:0003808	Abnormal muscle tone	8665	EIF3F	OMIM:618295
HP:0003808	Abnormal muscle tone	221692	PHACTR1	OMIM:618298
HP:0003808	Abnormal muscle tone	9131	AIFM1	OMIM:300816
HP:0003808	Abnormal muscle tone	54938	SARS2	OMIM:613845
HP:0003808	Abnormal muscle tone	26275	HIBCH	OMIM:250620
HP:0003808	Abnormal muscle tone	26275	HIBCH	ORPHA:88639
HP:0003808	Abnormal muscle tone	50640	PNPLA8	OMIM:251950
HP:0003808	Abnormal muscle tone	4594	MMUT	ORPHA:289916
HP:0003808	Abnormal muscle tone	4594	MMUT	OMIM:251000
HP:0003808	Abnormal muscle tone	4594	MMUT	ORPHA:79312
HP:0003808	Abnormal muscle tone	4359	MPZ	OMIM:618184
HP:0003808	Abnormal muscle tone	4359	MPZ	OMIM:145900
HP:0003808	Abnormal muscle tone	79717	PPCS	OMIM:618189
HP:0003808	Abnormal muscle tone	9871	SEC24D	ORPHA:2050
HP:0003808	Abnormal muscle tone	9871	SEC24D	OMIM:616294
HP:0003808	Abnormal muscle tone	5034	P4HB	ORPHA:2050
HP:0003808	Abnormal muscle tone	95	ACY1	ORPHA:137754
HP:0003808	Abnormal muscle tone	95	ACY1	OMIM:609924
HP:0003808	Abnormal muscle tone	7109	TRAPPC10	OMIM:620027
HP:0003808	Abnormal muscle tone	55325	UFSP2	OMIM:620028
HP:0003808	Abnormal muscle tone	10274	STAG1	ORPHA:502434
HP:0003808	Abnormal muscle tone	4774	NFIA	OMIM:613735
HP:0003808	Abnormal muscle tone	4774	NFIA	ORPHA:401986
HP:0003808	Abnormal muscle tone	8496	PPFIBP1	OMIM:620024
HP:0003808	Abnormal muscle tone	57176	VARS2	OMIM:615917
HP:0003808	Abnormal muscle tone	501	ALDH7A1	OMIM:266100
HP:0003808	Abnormal muscle tone	3073	HEXA	OMIM:272800
HP:0003808	Abnormal muscle tone	54968	TMEM70	ORPHA:1194
HP:0003808	Abnormal muscle tone	54968	TMEM70	OMIM:614052
HP:0003808	Abnormal muscle tone	3141	HLCS	OMIM:253270
HP:0003808	Abnormal muscle tone	3141	HLCS	ORPHA:79242
HP:0003808	Abnormal muscle tone	5689	PSMB1	OMIM:620038
HP:0003808	Abnormal muscle tone	63908	NAPB	OMIM:620033
HP:0003808	Abnormal muscle tone	116228	COX20	OMIM:619054
HP:0003808	Abnormal muscle tone	191	AHCY	OMIM:613752
HP:0003808	Abnormal muscle tone	686	BTD	OMIM:253260
HP:0003808	Abnormal muscle tone	686	BTD	ORPHA:79241
HP:0003808	Abnormal muscle tone	8289	ARID1A	OMIM:614607
HP:0003808	Abnormal muscle tone	55107	ANO1	OMIM:620045
HP:0003808	Abnormal muscle tone	5428	POLG	ORPHA:726
HP:0003808	Abnormal muscle tone	5428	POLG	OMIM:203700
HP:0003808	Abnormal muscle tone	5428	POLG	OMIM:613662
HP:0003808	Abnormal muscle tone	6598	SMARCB1	OMIM:614608
HP:0003808	Abnormal muscle tone	6597	SMARCA4	OMIM:614609
HP:0003808	Abnormal muscle tone	79087	ALG12	OMIM:607143
HP:0003808	Abnormal muscle tone	79087	ALG12	ORPHA:79324
HP:0003808	Abnormal muscle tone	9377	COX5A	OMIM:619064
HP:0003808	Abnormal muscle tone	58	ACTA1	ORPHA:2020
HP:0003808	Abnormal muscle tone	4633	MYL2	ORPHA:2020
HP:0003808	Abnormal muscle tone	3679	ITGA7	ORPHA:2020
HP:0003808	Abnormal muscle tone	3679	ITGA7	OMIM:613204
HP:0003808	Abnormal muscle tone	7170	TPM3	ORPHA:2020
HP:0003808	Abnormal muscle tone	51776	MAP3K20	ORPHA:2020
HP:0003808	Abnormal muscle tone	51776	MAP3K20	OMIM:617760
HP:0003808	Abnormal muscle tone	54476	RNF216	ORPHA:1173
HP:0003808	Abnormal muscle tone	10908	PNPLA6	ORPHA:1173
HP:0003808	Abnormal muscle tone	4591	TRIM37	OMIM:253250
HP:0003808	Abnormal muscle tone	79813	EHMT1	OMIM:610253
HP:0003808	Abnormal muscle tone	79813	EHMT1	ORPHA:261652
HP:0003808	Abnormal muscle tone	79813	EHMT1	ORPHA:96147
HP:0003808	Abnormal muscle tone	124512	METTL23	OMIM:615942
HP:0003808	Abnormal muscle tone	10382	TUBB4A	OMIM:612438
HP:0003808	Abnormal muscle tone	1174	AP1S1	OMIM:609313
HP:0003808	Abnormal muscle tone	112755	STX1B	ORPHA:36387
HP:0003808	Abnormal muscle tone	2563	GABRD	ORPHA:36387
HP:0003808	Abnormal muscle tone	2563	GABRD	ORPHA:1606
HP:0003808	Abnormal muscle tone	6326	SCN2A	ORPHA:36387
HP:0003808	Abnormal muscle tone	6324	SCN1B	ORPHA:36387
HP:0003808	Abnormal muscle tone	348980	HCN1	ORPHA:36387
HP:0003808	Abnormal muscle tone	84059	ADGRV1	ORPHA:36387
HP:0003808	Abnormal muscle tone	5091	PC	OMIM:266150
HP:0003808	Abnormal muscle tone	149371	EXOC8	OMIM:619076
HP:0003808	Abnormal muscle tone	5290	PIK3CA	ORPHA:60040
HP:0003808	Abnormal muscle tone	5290	PIK3CA	ORPHA:144
HP:0003808	Abnormal muscle tone	5290	PIK3CA	OMIM:602501
HP:0003808	Abnormal muscle tone	81031	SLC2A10	ORPHA:3342
HP:0003808	Abnormal muscle tone	81031	SLC2A10	OMIM:208050
HP:0003808	Abnormal muscle tone	22859	ADGRL1	OMIM:620065
HP:0003808	Abnormal muscle tone	83475	DOHH	OMIM:620066
HP:0003808	Abnormal muscle tone	6609	SMPD1	OMIM:257200
HP:0003808	Abnormal muscle tone	55027	HEATR3	OMIM:620072
HP:0003808	Abnormal muscle tone	51611	DPH5	OMIM:620070
HP:0003808	Abnormal muscle tone	58508	KMT2C	ORPHA:261652
HP:0003808	Abnormal muscle tone	58508	KMT2C	OMIM:617768
HP:0003808	Abnormal muscle tone	284217	LAMA1	OMIM:615960
HP:0003808	Abnormal muscle tone	284217	LAMA1	ORPHA:370022
HP:0003808	Abnormal muscle tone	28976	ACAD9	OMIM:611126
HP:0003808	Abnormal muscle tone	7443	VRK1	OMIM:607596
HP:0003808	Abnormal muscle tone	7443	VRK1	ORPHA:2254
HP:0003808	Abnormal muscle tone	51085	MLXIPL	OMIM:194050
HP:0003808	Abnormal muscle tone	51085	MLXIPL	ORPHA:904
HP:0003808	Abnormal muscle tone	10430	TMEM147	OMIM:620075
HP:0003808	Abnormal muscle tone	3187	HNRNPH1	OMIM:620083
HP:0003808	Abnormal muscle tone	63895	PIEZO2	OMIM:248700
HP:0003808	Abnormal muscle tone	63895	PIEZO2	ORPHA:2461
HP:0003808	Abnormal muscle tone	22880	MORC2	OMIM:619090
HP:0003808	Abnormal muscle tone	22880	MORC2	OMIM:616688
HP:0003808	Abnormal muscle tone	64220	STRA6	ORPHA:2470
HP:0003808	Abnormal muscle tone	64220	STRA6	OMIM:601186
HP:0003808	Abnormal muscle tone	5915	RARB	ORPHA:2470
HP:0003808	Abnormal muscle tone	7355	SLC35A2	OMIM:300896
HP:0003808	Abnormal muscle tone	729920	CRPPA	OMIM:614643
HP:0003808	Abnormal muscle tone	729920	CRPPA	ORPHA:899
HP:0003808	Abnormal muscle tone	84978	FRMD5	OMIM:620094
HP:0003808	Abnormal muscle tone	2581	GALC	OMIM:245200
HP:0003808	Abnormal muscle tone	667	DST	OMIM:614653
HP:0003808	Abnormal muscle tone	2702	GJA5	OMIM:612474
HP:0003808	Abnormal muscle tone	2703	GJA8	OMIM:612474
HP:0003808	Abnormal muscle tone	57017	COQ9	OMIM:614654
HP:0003808	Abnormal muscle tone	80199	FUZ	ORPHA:1136
HP:0003808	Abnormal muscle tone	170302	ARX	OMIM:300419
HP:0003808	Abnormal muscle tone	170302	ARX	ORPHA:452
HP:0003808	Abnormal muscle tone	170302	ARX	OMIM:300215
HP:0003808	Abnormal muscle tone	10664	CTCF	OMIM:615502
HP:0003808	Abnormal muscle tone	10664	CTCF	ORPHA:363611
HP:0003808	Abnormal muscle tone	6497	SKI	ORPHA:2462
HP:0003808	Abnormal muscle tone	6497	SKI	ORPHA:1606
HP:0003808	Abnormal muscle tone	6497	SKI	OMIM:182212
HP:0003808	Abnormal muscle tone	5376	PMP22	OMIM:145900
HP:0003808	Abnormal muscle tone	1959	EGR2	OMIM:145900
HP:0003808	Abnormal muscle tone	57716	PRX	OMIM:145900
HP:0003808	Abnormal muscle tone	1861	TOR1A	OMIM:128100
HP:0003808	Abnormal muscle tone	3720	JARID2	OMIM:620098
HP:0003808	Abnormal muscle tone	1738	DLD	OMIM:246900
HP:0003808	Abnormal muscle tone	270	AMPD1	OMIM:615511
HP:0003808	Abnormal muscle tone	51621	KLF13	OMIM:612001
HP:0003808	Abnormal muscle tone	7167	TPI1	OMIM:615512
HP:0003808	Abnormal muscle tone	7167	TPI1	ORPHA:868
HP:0003808	Abnormal muscle tone	29926	GMPPA	OMIM:615510
HP:0003808	Abnormal muscle tone	29926	GMPPA	ORPHA:869
HP:0003808	Abnormal muscle tone	5332	PLCB4	OMIM:614669
HP:0003808	Abnormal muscle tone	56997	COQ8A	OMIM:612016
HP:0003808	Abnormal muscle tone	56997	COQ8A	ORPHA:139485
HP:0003808	Abnormal muscle tone	11253	MAN1B1	OMIM:614202
HP:0003808	Abnormal muscle tone	5530	PPP3CA	OMIM:617711
HP:0003808	Abnormal muscle tone	5925	RB1	ORPHA:1587
HP:0003808	Abnormal muscle tone	7874	USP7	OMIM:616863
HP:0003808	Abnormal muscle tone	7874	USP7	ORPHA:500055
HP:0003808	Abnormal muscle tone	27315	PGAP2	OMIM:614207
HP:0003808	Abnormal muscle tone	84342	COG8	OMIM:611182
HP:0003808	Abnormal muscle tone	79633	FAT4	OMIM:615546
HP:0003808	Abnormal muscle tone	55644	OSGEP	OMIM:617729
HP:0003808	Abnormal muscle tone	55644	OSGEP	ORPHA:2065
HP:0003808	Abnormal muscle tone	57572	DOCK6	OMIM:614219
HP:0003808	Abnormal muscle tone	112858	TP53RK	OMIM:617730
HP:0003808	Abnormal muscle tone	112858	TP53RK	ORPHA:2065
HP:0003808	Abnormal muscle tone	3747	KCNC2	OMIM:619913
HP:0003808	Abnormal muscle tone	2548	GAA	OMIM:232300
HP:0003808	Abnormal muscle tone	490	ATP2B1	OMIM:619910
HP:0003808	Abnormal muscle tone	1917	EEF1A2	OMIM:616409
HP:0003808	Abnormal muscle tone	6925	TCF4	ORPHA:2896
HP:0003808	Abnormal muscle tone	6925	TCF4	OMIM:610954
HP:0003808	Abnormal muscle tone	26047	CNTNAP2	ORPHA:163681
HP:0003808	Abnormal muscle tone	51124	IER3IP1	OMIM:614231
HP:0003808	Abnormal muscle tone	83737	ITCH	OMIM:613385
HP:0003808	Abnormal muscle tone	55164	SHQ1	OMIM:619922
HP:0003808	Abnormal muscle tone	6519	SLC3A1	ORPHA:163690
HP:0003808	Abnormal muscle tone	6519	SLC3A1	ORPHA:163693
HP:0003808	Abnormal muscle tone	9581	PREPL	ORPHA:163690
HP:0003808	Abnormal muscle tone	9581	PREPL	ORPHA:163693
HP:0003808	Abnormal muscle tone	9581	PREPL	OMIM:616224
HP:0003808	Abnormal muscle tone	9215	LARGE1	OMIM:608840
HP:0003808	Abnormal muscle tone	9215	LARGE1	ORPHA:588
HP:0003808	Abnormal muscle tone	9215	LARGE1	OMIM:236670
HP:0003808	Abnormal muscle tone	9215	LARGE1	ORPHA:899
HP:0003808	Abnormal muscle tone	6591	SNAI2	ORPHA:2884
HP:0003808	Abnormal muscle tone	3815	KIT	ORPHA:2884
HP:0003808	Abnormal muscle tone	5495	PPM1B	ORPHA:163693
HP:0003808	Abnormal muscle tone	79823	CAMKMT	ORPHA:163693
HP:0003808	Abnormal muscle tone	29929	ALG6	OMIM:603147
HP:0003808	Abnormal muscle tone	29929	ALG6	ORPHA:79320
HP:0003808	Abnormal muscle tone	1376	CPT2	OMIM:608836
HP:0003808	Abnormal muscle tone	9320	TRIP12	OMIM:617752
HP:0003808	Abnormal muscle tone	5879	RAC1	OMIM:617751
HP:0003808	Abnormal muscle tone	5538	PPT1	OMIM:256730
HP:0003808	Abnormal muscle tone	1663	DDX11	OMIM:613398
HP:0003808	Abnormal muscle tone	119559	SFXN4	OMIM:615578
HP:0003808	Abnormal muscle tone	51684	SUFU	OMIM:617757
HP:0003808	Abnormal muscle tone	51684	SUFU	ORPHA:475
HP:0003808	Abnormal muscle tone	9757	KMT2B	OMIM:619934
HP:0003808	Abnormal muscle tone	9469	CHST3	OMIM:245600
HP:0003808	Abnormal muscle tone	26229	B3GAT3	OMIM:245600
HP:0003808	Abnormal muscle tone	8803	SUCLA2	OMIM:612073
HP:0003808	Abnormal muscle tone	7043	TGFB3	OMIM:615582
HP:0003808	Abnormal muscle tone	50484	RRM2B	OMIM:612075
HP:0003808	Abnormal muscle tone	50484	RRM2B	ORPHA:480
HP:0003808	Abnormal muscle tone	10464	PIBF1	OMIM:617767
HP:0003808	Abnormal muscle tone	10464	PIBF1	ORPHA:475
HP:0003808	Abnormal muscle tone	2036	EPB41L1	OMIM:614257
HP:0003808	Abnormal muscle tone	9990	SLC12A6	OMIM:218000
HP:0003808	Abnormal muscle tone	26235	FBXL4	OMIM:615471
HP:0003808	Abnormal muscle tone	1144	CHRND	OMIM:616322
HP:0003808	Abnormal muscle tone	1144	CHRND	OMIM:616321
HP:0003808	Abnormal muscle tone	1144	CHRND	OMIM:616323
HP:0003808	Abnormal muscle tone	23135	KDM6B	OMIM:618505
HP:0003808	Abnormal muscle tone	4593	MUSK	OMIM:616325
HP:0003808	Abnormal muscle tone	23334	SZT2	OMIM:615476
HP:0003808	Abnormal muscle tone	55823	VPS11	ORPHA:466934
HP:0003808	Abnormal muscle tone	55823	VPS11	OMIM:616683
HP:0003808	Abnormal muscle tone	4897	NRCAM	OMIM:619833
HP:0003808	Abnormal muscle tone	4072	EPCAM	ORPHA:144
HP:0003808	Abnormal muscle tone	4292	MLH1	ORPHA:144
HP:0003808	Abnormal muscle tone	5395	PMS2	ORPHA:144
HP:0003808	Abnormal muscle tone	27030	MLH3	ORPHA:144
HP:0003808	Abnormal muscle tone	22909	FAN1	ORPHA:144
HP:0003808	Abnormal muscle tone	7048	TGFBR2	ORPHA:144
HP:0003808	Abnormal muscle tone	2956	MSH6	ORPHA:144
HP:0003808	Abnormal muscle tone	5378	PMS1	ORPHA:144
HP:0003808	Abnormal muscle tone	4436	MSH2	ORPHA:144
HP:0003808	Abnormal muscle tone	4552	MTRR	OMIM:236270
HP:0003808	Abnormal muscle tone	4552	MTRR	ORPHA:2169
HP:0003808	Abnormal muscle tone	1373	CPS1	ORPHA:147
HP:0003808	Abnormal muscle tone	4125	MAN2B1	ORPHA:309282
HP:0003808	Abnormal muscle tone	4125	MAN2B1	OMIM:248500
HP:0003808	Abnormal muscle tone	9578	CDC42BPB	OMIM:619841
HP:0003808	Abnormal muscle tone	65993	MRPS34	OMIM:617664
HP:0003808	Abnormal muscle tone	80816	ASXL3	OMIM:615485
HP:0003808	Abnormal muscle tone	4141	MARS1	OMIM:615486
HP:0003808	Abnormal muscle tone	10528	NOP56	OMIM:614153
HP:0003808	Abnormal muscle tone	387787	LIPT2	OMIM:617668
HP:0003808	Abnormal muscle tone	1841	DTYMK	OMIM:619847
HP:0003808	Abnormal muscle tone	6487	ST3GAL3	OMIM:615006
HP:0003808	Abnormal muscle tone	8239	USP9X	OMIM:300919
HP:0003808	Abnormal muscle tone	7532	YWHAG	OMIM:617665
HP:0003808	Abnormal muscle tone	318	NUDT2	OMIM:619844
HP:0003808	Abnormal muscle tone	2132	EXT2	ORPHA:466926
HP:0003808	Abnormal muscle tone	2132	EXT2	OMIM:616682
HP:0003808	Abnormal muscle tone	55636	CHD7	ORPHA:138
HP:0003808	Abnormal muscle tone	55636	CHD7	ORPHA:478
HP:0003808	Abnormal muscle tone	9723	SEMA3E	ORPHA:138
HP:0003808	Abnormal muscle tone	55650	PIGV	OMIM:239300
HP:0003808	Abnormal muscle tone	288	ANK3	OMIM:615493
HP:0003808	Abnormal muscle tone	288	ANK3	ORPHA:356996
HP:0003808	Abnormal muscle tone	23321	TRIM2	OMIM:615490
HP:0003808	Abnormal muscle tone	1759	DNM1	OMIM:616346
HP:0003808	Abnormal muscle tone	1759	DNM1	OMIM:620352
HP:0003808	Abnormal muscle tone	2770	GNAI1	OMIM:619854
HP:0003808	Abnormal muscle tone	1716	DGUOK	OMIM:251880
HP:0003808	Abnormal muscle tone	1105	CHD1	OMIM:617682
HP:0003808	Abnormal muscle tone	1594	CYP27B1	OMIM:264700
HP:0003808	Abnormal muscle tone	5528	PPP2R5D	OMIM:616355
HP:0003808	Abnormal muscle tone	23327	NEDD4L	OMIM:617201
HP:0003808	Abnormal muscle tone	55065	SLC52A1	OMIM:615026
HP:0003808	Abnormal muscle tone	5518	PPP2R1A	OMIM:616362
HP:0003808	Abnormal muscle tone	5518	PPP2R1A	ORPHA:457284
HP:0003808	Abnormal muscle tone	9895	TECPR2	OMIM:615031
HP:0003808	Abnormal muscle tone	26038	CHD5	OMIM:619873
HP:0003808	Abnormal muscle tone	3737	KCNA2	OMIM:616366
HP:0003808	Abnormal muscle tone	23126	POGZ	OMIM:616364
HP:0003808	Abnormal muscle tone	57680	CHD8	OMIM:615032
HP:0003808	Abnormal muscle tone	92609	TIMM50	OMIM:617698
HP:0003808	Abnormal muscle tone	92609	TIMM50	ORPHA:505216
HP:0003808	Abnormal muscle tone	51692	CPSF3	OMIM:619876
HP:0003808	Abnormal muscle tone	5590	PRKCZ	ORPHA:1606
HP:0003808	Abnormal muscle tone	23013	SPEN	ORPHA:1606
HP:0003808	Abnormal muscle tone	23013	SPEN	OMIM:619312
HP:0003808	Abnormal muscle tone	8510	MMP23B	ORPHA:1606
HP:0003808	Abnormal muscle tone	7798	LUZP1	ORPHA:1606
HP:0003808	Abnormal muscle tone	10630	PDPN	ORPHA:1606
HP:0003808	Abnormal muscle tone	3339	HSPG2	ORPHA:1606
HP:0003808	Abnormal muscle tone	10277	UBE4B	ORPHA:1606
HP:0003808	Abnormal muscle tone	8514	KCNAB2	ORPHA:1606
HP:0003808	Abnormal muscle tone	63976	PRDM16	ORPHA:1606
HP:0003808	Abnormal muscle tone	54897	CASZ1	ORPHA:1606
HP:0003808	Abnormal muscle tone	148789	B3GALNT2	ORPHA:588
HP:0003808	Abnormal muscle tone	148789	B3GALNT2	ORPHA:899
HP:0003808	Abnormal muscle tone	29925	GMPPB	ORPHA:588
HP:0003808	Abnormal muscle tone	29925	GMPPB	ORPHA:363623
HP:0003808	Abnormal muscle tone	29925	GMPPB	OMIM:615350
HP:0003808	Abnormal muscle tone	29925	GMPPB	OMIM:615351
HP:0003808	Abnormal muscle tone	29925	GMPPB	OMIM:615352
HP:0003808	Abnormal muscle tone	29954	POMT2	ORPHA:588
HP:0003808	Abnormal muscle tone	29954	POMT2	OMIM:236670
HP:0003808	Abnormal muscle tone	29954	POMT2	ORPHA:899
HP:0003808	Abnormal muscle tone	29954	POMT2	OMIM:613156
HP:0003808	Abnormal muscle tone	55624	POMGNT1	ORPHA:588
HP:0003808	Abnormal muscle tone	55624	POMGNT1	ORPHA:899
HP:0003808	Abnormal muscle tone	10585	POMT1	ORPHA:588
HP:0003808	Abnormal muscle tone	10585	POMT1	OMIM:236670
HP:0003808	Abnormal muscle tone	10585	POMT1	ORPHA:899
HP:0003808	Abnormal muscle tone	2990	GUSB	ORPHA:584
HP:0003808	Abnormal muscle tone	4644	MYO5A	ORPHA:33445
HP:0003808	Abnormal muscle tone	4644	MYO5A	OMIM:214450
HP:0003808	Abnormal muscle tone	56098	PCDHGC4	OMIM:619880
HP:0003808	Abnormal muscle tone	27068	PPA2	OMIM:617222
HP:0003808	Abnormal muscle tone	4285	MIPEP	OMIM:617228
HP:0003808	Abnormal muscle tone	2555	GABRA2	OMIM:618557
HP:0003808	Abnormal muscle tone	57192	MCOLN1	ORPHA:578
HP:0003808	Abnormal muscle tone	57192	MCOLN1	OMIM:252650
HP:0003808	Abnormal muscle tone	124583	CANT1	OMIM:251450
HP:0003808	Abnormal muscle tone	38	ACAT1	ORPHA:134
HP:0003808	Abnormal muscle tone	4351	MPI	OMIM:602579
HP:0003808	Abnormal muscle tone	3798	KIF5A	OMIM:617235
HP:0003808	Abnormal muscle tone	8565	YARS1	OMIM:619418
HP:0003808	Abnormal muscle tone	64919	BCL11B	OMIM:617237
HP:0003808	Abnormal muscle tone	64919	BCL11B	OMIM:618092
HP:0003808	Abnormal muscle tone	2720	GLB1	OMIM:230500
HP:0003808	Abnormal muscle tone	84295	PHF6	ORPHA:127
HP:0003808	Abnormal muscle tone	84295	PHF6	OMIM:301900
HP:0003808	Abnormal muscle tone	1967	EIF2B1	OMIM:603896
HP:0003808	Abnormal muscle tone	85300	ATCAY	OMIM:601238
HP:0003808	Abnormal muscle tone	205327	C2orf69	OMIM:619423
HP:0003808	Abnormal muscle tone	26173	INTS1	OMIM:618571
HP:0003808	Abnormal muscle tone	27429	HTRA2	OMIM:617248
HP:0003808	Abnormal muscle tone	1642	DDB1	OMIM:619426
HP:0003808	Abnormal muscle tone	81603	TRIM8	OMIM:619428
HP:0003808	Abnormal muscle tone	389827	MYMK	OMIM:254940
HP:0003808	Abnormal muscle tone	389827	MYMK	ORPHA:1358
HP:0003808	Abnormal muscle tone	410	ARSA	OMIM:250100
HP:0003808	Abnormal muscle tone	1499	CTNNB1	OMIM:615075
HP:0003808	Abnormal muscle tone	56896	DPYSL5	OMIM:619435
HP:0003808	Abnormal muscle tone	92335	STRADA	ORPHA:500533
HP:0003808	Abnormal muscle tone	92335	STRADA	OMIM:611087
HP:0003808	Abnormal muscle tone	4967	OGDH	OMIM:203740
HP:0003808	Abnormal muscle tone	6418	SET	OMIM:618106
HP:0003808	Abnormal muscle tone	9526	MPDU1	OMIM:609180
HP:0003808	Abnormal muscle tone	128869	PIGU	OMIM:618590
HP:0003808	Abnormal muscle tone	4041	LRP5	OMIM:259770
HP:0003808	Abnormal muscle tone	1760	DMPK	OMIM:160900
HP:0003808	Abnormal muscle tone	5980	REV3L	ORPHA:570
HP:0003808	Abnormal muscle tone	23129	PLXND1	ORPHA:570
HP:0003808	Abnormal muscle tone	3039	HBA1	ORPHA:98791
HP:0003808	Abnormal muscle tone	3040	HBA2	ORPHA:98791
HP:0003808	Abnormal muscle tone	7084	TK2	ORPHA:254875
HP:0003808	Abnormal muscle tone	7084	TK2	OMIM:609560
HP:0003808	Abnormal muscle tone	8888	MCM3AP	OMIM:618124
HP:0003808	Abnormal muscle tone	537	ATP6AP1	OMIM:300972
HP:0003808	Abnormal muscle tone	3756	KCNH1	OMIM:135500
HP:0003808	Abnormal muscle tone	3756	KCNH1	OMIM:611816
HP:0003808	Abnormal muscle tone	3376	IARS1	ORPHA:541423
HP:0003808	Abnormal muscle tone	3376	IARS1	OMIM:617093
HP:0003808	Abnormal muscle tone	1312	COMT	ORPHA:567
HP:0003808	Abnormal muscle tone	221037	JMJD1C	ORPHA:567
HP:0003808	Abnormal muscle tone	2812	GP1BB	ORPHA:567
HP:0003808	Abnormal muscle tone	6239	RREB1	ORPHA:567
HP:0003808	Abnormal muscle tone	6899	TBX1	ORPHA:567
HP:0003808	Abnormal muscle tone	6899	TBX1	ORPHA:1727
HP:0003808	Abnormal muscle tone	6899	TBX1	OMIM:192430
HP:0003808	Abnormal muscle tone	7290	HIRA	ORPHA:567
HP:0003808	Abnormal muscle tone	9632	SEC24C	ORPHA:567
HP:0003808	Abnormal muscle tone	7353	UFD1	ORPHA:567
HP:0003808	Abnormal muscle tone	421	ARVCF	ORPHA:567
HP:0003808	Abnormal muscle tone	538	ATP7A	ORPHA:565
HP:0003808	Abnormal muscle tone	538	ATP7A	ORPHA:198
HP:0003808	Abnormal muscle tone	538	ATP7A	OMIM:309400
HP:0003808	Abnormal muscle tone	6045	RNF2	OMIM:619460
HP:0003808	Abnormal muscle tone	51102	MECR	OMIM:617282
HP:0003808	Abnormal muscle tone	51102	MECR	ORPHA:508093
HP:0003808	Abnormal muscle tone	7809	BSND	OMIM:602522
HP:0003808	Abnormal muscle tone	7809	BSND	ORPHA:89938
HP:0003808	Abnormal muscle tone	7317	UBA1	OMIM:301830
HP:0003808	Abnormal muscle tone	3188	HNRNPH2	OMIM:300986
HP:0003808	Abnormal muscle tone	4548	MTR	OMIM:250940
HP:0003808	Abnormal muscle tone	84065	TMEM222	OMIM:619470
HP:0003808	Abnormal muscle tone	11212	PLPBP	OMIM:617290
HP:0003808	Abnormal muscle tone	2290	FOXG1	ORPHA:261144
HP:0003808	Abnormal muscle tone	57187	THOC2	OMIM:300957
HP:0003808	Abnormal muscle tone	57187	THOC2	ORPHA:457240
HP:0003808	Abnormal muscle tone	10526	IPO8	OMIM:619472
HP:0003808	Abnormal muscle tone	54539	NDUFB11	OMIM:300952
HP:0003808	Abnormal muscle tone	54539	NDUFB11	ORPHA:2609
HP:0003808	Abnormal muscle tone	6711	SPTBN1	OMIM:619475
HP:0003808	Abnormal muscle tone	2131	EXT1	ORPHA:502
HP:0003808	Abnormal muscle tone	10682	EBP	OMIM:300960
HP:0003808	Abnormal muscle tone	8567	MADD	OMIM:619004
HP:0003808	Abnormal muscle tone	374879	ZNF699	OMIM:619488
HP:0003808	Abnormal muscle tone	4841	NONO	OMIM:300967
HP:0003808	Abnormal muscle tone	28952	CCDC22	OMIM:300963
HP:0003808	Abnormal muscle tone	28952	CCDC22	ORPHA:7
HP:0003808	Abnormal muscle tone	9373	PLAA	ORPHA:521426
HP:0003808	Abnormal muscle tone	9373	PLAA	OMIM:617527
HP:0003808	Abnormal muscle tone	1654	DDX3X	OMIM:300958
HP:0003808	Abnormal muscle tone	57038	RARS2	OMIM:611523
HP:0003808	Abnormal muscle tone	10681	GNB5	ORPHA:542306
HP:0003808	Abnormal muscle tone	10681	GNB5	OMIM:617173
HP:0003808	Abnormal muscle tone	10681	GNB5	OMIM:617182
HP:0003808	Abnormal muscle tone	673	BRAF	OMIM:613706
HP:0003808	Abnormal muscle tone	673	BRAF	OMIM:115150
HP:0003808	Abnormal muscle tone	673	BRAF	ORPHA:1340
HP:0003808	Abnormal muscle tone	80267	EDEM3	OMIM:619493
HP:0003808	Abnormal muscle tone	6748	SSR4	OMIM:300934
HP:0003808	Abnormal muscle tone	84231	TRAF7	OMIM:618164
HP:0003808	Abnormal muscle tone	63899	NSUN3	OMIM:619012
HP:0003808	Abnormal muscle tone	92344	GORAB	ORPHA:2078
HP:0003808	Abnormal muscle tone	5831	PYCR1	ORPHA:2078
HP:0003808	Abnormal muscle tone	1073	CFL2	OMIM:610687
HP:0003808	Abnormal muscle tone	9897	WASHC5	ORPHA:7
HP:0003808	Abnormal muscle tone	9897	WASHC5	OMIM:220210
HP:0003808	Abnormal muscle tone	114034	TOE1	ORPHA:284339
HP:0003808	Abnormal muscle tone	114034	TOE1	OMIM:614969
HP:0003808	Abnormal muscle tone	9562	MINPP1	ORPHA:284339
HP:0003808	Abnormal muscle tone	5860	QDPR	OMIM:261630
HP:0003808	Abnormal muscle tone	1496	CTNNA2	OMIM:618174
HP:0003808	Abnormal muscle tone	8910	SGCE	OMIM:159900
HP:0003808	Abnormal muscle tone	51002	TPRKB	ORPHA:2065
HP:0003808	Abnormal muscle tone	57122	NUP107	ORPHA:2065
HP:0003808	Abnormal muscle tone	10785	WDR4	ORPHA:2065
HP:0003808	Abnormal muscle tone	8270	LAGE3	ORPHA:2065
HP:0003808	Abnormal muscle tone	8270	LAGE3	OMIM:301006
HP:0003808	Abnormal muscle tone	55294	FBXW7	OMIM:620012
HP:0003808	Abnormal muscle tone	65055	REEP1	OMIM:620011
HP:0003808	Abnormal muscle tone	2760	GM2A	OMIM:272750
HP:0003808	Abnormal muscle tone	1183	CLCN4	OMIM:300114
HP:0003808	Abnormal muscle tone	23241	PACS2	OMIM:618067
HP:0003808	Abnormal muscle tone	7148	TNXB	ORPHA:230839
HP:0003808	Abnormal muscle tone	161742	SPRED1	OMIM:611431
HP:0003808	Abnormal muscle tone	161742	SPRED1	ORPHA:137605
HP:0003808	Abnormal muscle tone	118429	ANTXR2	ORPHA:2176
HP:0003808	Abnormal muscle tone	10466	COG5	OMIM:613612
HP:0003808	Abnormal muscle tone	10667	FARS2	OMIM:614946
HP:0003808	Abnormal muscle tone	9839	ZEB2	OMIM:235730
HP:0003808	Abnormal muscle tone	80232	WDR26	ORPHA:513456
HP:0003808	Abnormal muscle tone	80232	WDR26	OMIM:617616
HP:0003808	Abnormal muscle tone	80055	PGAP1	OMIM:615802
HP:0003808	Abnormal muscle tone	6662	SOX9	OMIM:114290
HP:0003808	Abnormal muscle tone	57582	KCNT1	OMIM:614959
HP:0003808	Abnormal muscle tone	10225	CD96	OMIM:211750
HP:0003808	Abnormal muscle tone	10225	CD96	ORPHA:1308
HP:0003808	Abnormal muscle tone	3766	KCNJ10	OMIM:612780
HP:0003808	Abnormal muscle tone	64207	IRF2BPL	OMIM:618088
HP:0003808	Abnormal muscle tone	5119	CHMP1A	OMIM:614961
HP:0003808	Abnormal muscle tone	84876	ORAI1	OMIM:612782
HP:0003808	Abnormal muscle tone	23522	KAT6B	OMIM:606170
HP:0003808	Abnormal muscle tone	23522	KAT6B	OMIM:603736
HP:0003808	Abnormal muscle tone	23522	KAT6B	ORPHA:3047
HP:0003808	Abnormal muscle tone	966	CD59	OMIM:612300
HP:0003808	Abnormal muscle tone	6786	STIM1	OMIM:612783
HP:0003808	Abnormal muscle tone	5015	OTX2	OMIM:610125
HP:0003808	Abnormal muscle tone	5238	PGM3	OMIM:615816
HP:0003808	Abnormal muscle tone	23325	WASHC4	OMIM:615817
HP:0003808	Abnormal muscle tone	80856	LNPK	OMIM:618090
HP:0003808	Abnormal muscle tone	6885	MAP3K7	OMIM:157800
HP:0003808	Abnormal muscle tone	11232	POLG2	OMIM:610131
HP:0003808	Abnormal muscle tone	1954	MEGF8	OMIM:614976
HP:0003808	Abnormal muscle tone	84300	UQCC2	OMIM:615824
HP:0003808	Abnormal muscle tone	113235	SLC46A1	OMIM:229050
HP:0003808	Abnormal muscle tone	165	AEBP1	ORPHA:536532
HP:0003808	Abnormal muscle tone	3192	HNRNPU	ORPHA:238769
HP:0003808	Abnormal muscle tone	2903	GRIN2A	OMIM:245570
HP:0003808	Abnormal muscle tone	1629	DBT	OMIM:248600
HP:0003808	Abnormal muscle tone	593	BCKDHA	OMIM:248600
HP:0003808	Abnormal muscle tone	594	BCKDHB	OMIM:248600
HP:0003808	Abnormal muscle tone	5063	PAK3	OMIM:300558
HP:0003808	Abnormal muscle tone	5626	PROP1	ORPHA:226307
HP:0003808	Abnormal muscle tone	89884	LHX4	ORPHA:226307
HP:0003808	Abnormal muscle tone	8022	LHX3	ORPHA:226307
HP:0003808	Abnormal muscle tone	8820	HESX1	ORPHA:226307
HP:0003808	Abnormal muscle tone	8820	HESX1	ORPHA:478
HP:0003808	Abnormal muscle tone	79753	SNIP1	OMIM:614501
HP:0003808	Abnormal muscle tone	3418	IDH2	OMIM:613657
HP:0003808	Abnormal muscle tone	773	CACNA1A	ORPHA:2131
HP:0003808	Abnormal muscle tone	6507	SLC1A3	ORPHA:2131
HP:0003808	Abnormal muscle tone	1650	DDOST	OMIM:614507
HP:0003808	Abnormal muscle tone	10056	FARSB	OMIM:613658
HP:0003808	Abnormal muscle tone	54499	TMCO1	OMIM:213980
HP:0003808	Abnormal muscle tone	440138	ALG11	OMIM:613661
HP:0003808	Abnormal muscle tone	50506	DUOX2	ORPHA:226316
HP:0003808	Abnormal muscle tone	50506	DUOX2	ORPHA:95716
HP:0003808	Abnormal muscle tone	64135	IFIH1	OMIM:615846
HP:0003808	Abnormal muscle tone	64135	IFIH1	OMIM:182250
HP:0003808	Abnormal muscle tone	1910	EDNRB	OMIM:277580
HP:0003808	Abnormal muscle tone	10472	ZBTB18	OMIM:612337
HP:0003808	Abnormal muscle tone	8813	DPM1	OMIM:608799
HP:0003808	Abnormal muscle tone	340024	SLC6A19	ORPHA:2116
HP:0003808	Abnormal muscle tone	57393	CLTRN	ORPHA:2116
HP:0003808	Abnormal muscle tone	2146	EZH2	OMIM:277590
HP:0003808	Abnormal muscle tone	51067	YARS2	ORPHA:2598
HP:0003808	Abnormal muscle tone	51067	YARS2	OMIM:613561
HP:0003808	Abnormal muscle tone	3242	HPD	ORPHA:2118
HP:0003808	Abnormal muscle tone	55023	PHIP	ORPHA:589905
HP:0003808	Abnormal muscle tone	55023	PHIP	OMIM:617991
HP:0003808	Abnormal muscle tone	6664	SOX11	OMIM:615866
HP:0003808	Abnormal muscle tone	54704	PDP1	OMIM:608782
HP:0003808	Abnormal muscle tone	91949	COG7	OMIM:608779
HP:0003808	Abnormal muscle tone	91949	COG7	ORPHA:79333
HP:0003808	Abnormal muscle tone	64116	SLC39A8	OMIM:616721
HP:0003808	Abnormal muscle tone	23394	ADNP	OMIM:615873
HP:0003808	Abnormal muscle tone	1788	DNMT3A	OMIM:615879
HP:0003808	Abnormal muscle tone	6948	TCN2	OMIM:275350
HP:0003808	Abnormal muscle tone	55593	OTUD5	OMIM:301056
HP:0003808	Abnormal muscle tone	2258	FGF13	OMIM:301058
HP:0003808	Abnormal muscle tone	3748	KCNC3	OMIM:605259
HP:0003808	Abnormal muscle tone	5160	PDHA1	OMIM:312170
HP:0003808	Abnormal muscle tone	5160	PDHA1	ORPHA:255241
HP:0003808	Abnormal muscle tone	5160	PDHA1	ORPHA:79243
HP:0003808	Abnormal muscle tone	10229	COQ7	OMIM:616733
HP:0003808	Abnormal muscle tone	79644	SRD5A3	OMIM:612379
HP:0003808	Abnormal muscle tone	50	ACO2	OMIM:614559
HP:0003808	Abnormal muscle tone	10982	MAPRE2	OMIM:616734
HP:0003808	Abnormal muscle tone	55033	FKBP14	OMIM:614557
HP:0003808	Abnormal muscle tone	84679	SLC9A7	OMIM:301024
HP:0003808	Abnormal muscle tone	4694	NDUFA1	OMIM:301020
HP:0003808	Abnormal muscle tone	4694	NDUFA1	ORPHA:2609
HP:0003808	Abnormal muscle tone	27235	COQ2	OMIM:607426
HP:0003808	Abnormal muscle tone	63035	BCORL1	OMIM:301029
HP:0003808	Abnormal muscle tone	1778	DYNC1H1	OMIM:614563
HP:0003808	Abnormal muscle tone	80746	TSEN2	OMIM:612389
HP:0003808	Abnormal muscle tone	4361	MRE11	OMIM:604391
HP:0003808	Abnormal muscle tone	5422	POLA1	OMIM:301030
HP:0003808	Abnormal muscle tone	23028	KDM1A	ORPHA:477993
HP:0003808	Abnormal muscle tone	79576	NKAP	OMIM:301039
HP:0003808	Abnormal muscle tone	83696	TRAPPC9	ORPHA:352530
HP:0003808	Abnormal muscle tone	56479	KCNQ5	OMIM:617601
HP:0003808	Abnormal muscle tone	23152	CIC	OMIM:617600
HP:0003808	Abnormal muscle tone	57531	HACE1	OMIM:616756
HP:0003808	Abnormal muscle tone	59341	TRPV4	ORPHA:1216
HP:0003808	Abnormal muscle tone	60	ACTB	OMIM:243310
HP:0003808	Abnormal muscle tone	23476	BRD4	ORPHA:199
HP:0003808	Abnormal muscle tone	9126	SMC3	ORPHA:199
HP:0003808	Abnormal muscle tone	8243	SMC1A	ORPHA:199
HP:0003808	Abnormal muscle tone	8243	SMC1A	ORPHA:3095
HP:0003808	Abnormal muscle tone	25836	NIPBL	ORPHA:199
HP:0003808	Abnormal muscle tone	55869	HDAC8	ORPHA:199
HP:0003808	Abnormal muscle tone	5885	RAD21	ORPHA:199
HP:0003808	Abnormal muscle tone	9997	SCO2	OMIM:604377
HP:0003808	Abnormal muscle tone	157680	VPS13B	ORPHA:193
HP:0003808	Abnormal muscle tone	51520	LARS1	OMIM:615438
HP:0003808	Abnormal muscle tone	4329	ALDH6A1	OMIM:614105
HP:0003808	Abnormal muscle tone	3425	IDUA	ORPHA:93473
HP:0003808	Abnormal muscle tone	26503	SLC17A5	OMIM:604369
HP:0003808	Abnormal muscle tone	26503	SLC17A5	OMIM:269920
HP:0003808	Abnormal muscle tone	60528	ELAC2	OMIM:615440
HP:0003808	Abnormal muscle tone	80210	ARMC9	OMIM:617622
HP:0003808	Abnormal muscle tone	80210	ARMC9	ORPHA:475
HP:0003808	Abnormal muscle tone	3832	KIF11	ORPHA:2526
HP:0003808	Abnormal muscle tone	5294	PIK3CG	OMIM:619802
HP:0003808	Abnormal muscle tone	617	BCS1L	OMIM:124000
HP:0003808	Abnormal muscle tone	113246	C12orf57	OMIM:218340
HP:0003808	Abnormal muscle tone	6389	SDHA	ORPHA:255241
HP:0003808	Abnormal muscle tone	80704	SLC19A3	ORPHA:255241
HP:0003808	Abnormal muscle tone	6834	SURF1	ORPHA:255241
HP:0003808	Abnormal muscle tone	6834	SURF1	OMIM:220110
HP:0003808	Abnormal muscle tone	4729	NDUFV2	ORPHA:255241
HP:0003808	Abnormal muscle tone	4729	NDUFV2	ORPHA:2609
HP:0003808	Abnormal muscle tone	51204	TACO1	ORPHA:255241
HP:0003808	Abnormal muscle tone	4722	NDUFS3	ORPHA:255241
HP:0003808	Abnormal muscle tone	4722	NDUFS3	ORPHA:2609
HP:0003808	Abnormal muscle tone	79133	NDUFAF5	ORPHA:255241
HP:0003808	Abnormal muscle tone	79133	NDUFAF5	ORPHA:2609
HP:0003808	Abnormal muscle tone	100131801	PET100	ORPHA:255241
HP:0003808	Abnormal muscle tone	1892	ECHS1	ORPHA:255241
HP:0003808	Abnormal muscle tone	1892	ECHS1	OMIM:616277
HP:0003808	Abnormal muscle tone	51079	NDUFA13	ORPHA:255241
HP:0003808	Abnormal muscle tone	374291	NDUFS7	ORPHA:255241
HP:0003808	Abnormal muscle tone	374291	NDUFS7	ORPHA:2609
HP:0003808	Abnormal muscle tone	51601	LIPT1	ORPHA:255241
HP:0003808	Abnormal muscle tone	51601	LIPT1	OMIM:616299
HP:0003808	Abnormal muscle tone	4695	NDUFA2	ORPHA:255241
HP:0003808	Abnormal muscle tone	4697	NDUFA4	ORPHA:255241
HP:0003808	Abnormal muscle tone	4704	NDUFA9	ORPHA:255241
HP:0003808	Abnormal muscle tone	54888	NSUN2	OMIM:611091
HP:0003808	Abnormal muscle tone	22931	RAB18	ORPHA:2510
HP:0003808	Abnormal muscle tone	128637	TBC1D20	ORPHA:2510
HP:0003808	Abnormal muscle tone	1140	CHRNB1	OMIM:616314
HP:0003808	Abnormal muscle tone	1140	CHRNB1	OMIM:616313
HP:0003808	Abnormal muscle tone	8398	PLA2G6	OMIM:256600
HP:0003808	Abnormal muscle tone	25915	NDUFAF3	ORPHA:2609
HP:0003808	Abnormal muscle tone	4716	NDUFB10	ORPHA:2609
HP:0003808	Abnormal muscle tone	284184	NDUFAF8	ORPHA:2609
HP:0003808	Abnormal muscle tone	55863	TMEM126B	ORPHA:2609
HP:0003808	Abnormal muscle tone	4535	MT-ND1	ORPHA:2609
HP:0003808	Abnormal muscle tone	4537	MT-ND3	ORPHA:2609
HP:0003808	Abnormal muscle tone	4726	NDUFS6	ORPHA:2609
HP:0003808	Abnormal muscle tone	126328	NDUFA11	ORPHA:2609
HP:0003808	Abnormal muscle tone	80224	NUBPL	ORPHA:2609
HP:0003808	Abnormal muscle tone	29078	NDUFAF4	ORPHA:2609
HP:0003808	Abnormal muscle tone	4700	NDUFA6	ORPHA:2609
HP:0003808	Abnormal muscle tone	4536	MT-ND2	ORPHA:2609
HP:0003808	Abnormal muscle tone	3265	HRAS	ORPHA:2612
HP:0003808	Abnormal muscle tone	2895	GRID2	OMIM:616204
HP:0003808	Abnormal muscle tone	8425	LTBP4	OMIM:613177
HP:0003808	Abnormal muscle tone	51126	NAA20	OMIM:619717
HP:0003808	Abnormal muscle tone	60684	TRAPPC11	OMIM:615356
HP:0003808	Abnormal muscle tone	60684	TRAPPC11	ORPHA:869
HP:0003808	Abnormal muscle tone	10060	ABCC9	OMIM:619719
HP:0003808	Abnormal muscle tone	124997	WDR81	ORPHA:1766
HP:0003808	Abnormal muscle tone	51761	ATP8A2	ORPHA:1766
HP:0003808	Abnormal muscle tone	767	CA8	ORPHA:1766
HP:0003808	Abnormal muscle tone	7849	PAX8	OMIM:218700
HP:0003808	Abnormal muscle tone	7849	PAX8	ORPHA:95720
HP:0003808	Abnormal muscle tone	7849	PAX8	ORPHA:95713
HP:0003808	Abnormal muscle tone	7849	PAX8	ORPHA:95712
HP:0003808	Abnormal muscle tone	249	ALPL	OMIM:241500
HP:0003808	Abnormal muscle tone	3020	H3-3A	OMIM:619720
HP:0003808	Abnormal muscle tone	1630	DCC	OMIM:617542
HP:0003808	Abnormal muscle tone	1630	DCC	ORPHA:478
HP:0003808	Abnormal muscle tone	55790	CSGALNACT1	OMIM:618870
HP:0003808	Abnormal muscle tone	4056	LTC4S	OMIM:614037
HP:0003808	Abnormal muscle tone	1785	DNM2	OMIM:615368
HP:0003808	Abnormal muscle tone	64218	SEMA4A	ORPHA:440437
HP:0003808	Abnormal muscle tone	657	BMPR1A	ORPHA:440437
HP:0003808	Abnormal muscle tone	6224	RPS20	ORPHA:440437
HP:0003808	Abnormal muscle tone	5610	EIF2AK2	OMIM:618877
HP:0003808	Abnormal muscle tone	27102	EIF2AK1	OMIM:618878
HP:0003808	Abnormal muscle tone	6660	SOX5	ORPHA:313892
HP:0003808	Abnormal muscle tone	51319	RSRC1	OMIM:618402
HP:0003808	Abnormal muscle tone	85365	ALG2	OMIM:616228
HP:0003808	Abnormal muscle tone	84504	NKX6-2	OMIM:617560
HP:0003808	Abnormal muscle tone	4763	NF1	ORPHA:363700
HP:0003808	Abnormal muscle tone	5442	POLRMT	OMIM:619743
HP:0003808	Abnormal muscle tone	39	ACAT2	OMIM:614055
HP:0003808	Abnormal muscle tone	4297	KMT2A	ORPHA:319182
HP:0003808	Abnormal muscle tone	4297	KMT2A	OMIM:605130
HP:0003808	Abnormal muscle tone	84314	TMEM107	OMIM:617563
HP:0003808	Abnormal muscle tone	833	CARS1	OMIM:618891
HP:0003808	Abnormal muscle tone	4632	MYL1	OMIM:618414
HP:0003808	Abnormal muscle tone	79731	NARS2	OMIM:616239
HP:0003808	Abnormal muscle tone	79600	TCTN1	ORPHA:475
HP:0003808	Abnormal muscle tone	200894	ARL13B	ORPHA:475
HP:0003808	Abnormal muscle tone	200894	ARL13B	OMIM:612291
HP:0003808	Abnormal muscle tone	9731	CEP104	ORPHA:475
HP:0003808	Abnormal muscle tone	219844	HYLS1	ORPHA:475
HP:0003808	Abnormal muscle tone	23247	KATNIP	ORPHA:475
HP:0003808	Abnormal muscle tone	219854	TMEM218	ORPHA:475
HP:0003808	Abnormal muscle tone	9786	KIAA0586	ORPHA:475
HP:0003808	Abnormal muscle tone	79867	TCTN2	ORPHA:475
HP:0003808	Abnormal muscle tone	79867	TCTN2	OMIM:616654
HP:0003808	Abnormal muscle tone	80776	B9D2	ORPHA:475
HP:0003808	Abnormal muscle tone	23116	TOGARAM1	ORPHA:475
HP:0003808	Abnormal muscle tone	25776	CBY1	ORPHA:475
HP:0003808	Abnormal muscle tone	27077	B9D1	ORPHA:475
HP:0003808	Abnormal muscle tone	27077	B9D1	OMIM:617120
HP:0003808	Abnormal muscle tone	403	ARL3	ORPHA:475
HP:0003808	Abnormal muscle tone	54880	BCOR	OMIM:309800
HP:0003808	Abnormal muscle tone	51604	PIGT	OMIM:615398
HP:0003808	Abnormal muscle tone	51604	PIGT	ORPHA:369837
HP:0003808	Abnormal muscle tone	142680	SLC34A3	OMIM:241530
HP:0003808	Abnormal muscle tone	8363	H4C11	OMIM:619759
HP:0003808	Abnormal muscle tone	5048	PAFAH1B1	ORPHA:217385
HP:0003808	Abnormal muscle tone	7531	YWHAE	ORPHA:217385
HP:0003808	Abnormal muscle tone	8021	NUP214	OMIM:618426
HP:0003808	Abnormal muscle tone	8364	H4C3	OMIM:619758
HP:0003808	Abnormal muscle tone	23474	ETHE1	OMIM:602473
HP:0003808	Abnormal muscle tone	8517	IKBKG	ORPHA:464
HP:0003808	Abnormal muscle tone	79796	ALG9	ORPHA:79328
HP:0003808	Abnormal muscle tone	4247	MGAT2	ORPHA:79329
HP:0003808	Abnormal muscle tone	8314	BAP1	OMIM:619762
HP:0003808	Abnormal muscle tone	27086	FOXP1	ORPHA:391372
HP:0003808	Abnormal muscle tone	59336	PRDM13	OMIM:619761
HP:0003808	Abnormal muscle tone	6942	TCF20	OMIM:618430
HP:0003808	Abnormal muscle tone	9993	DGCR2	OMIM:192430
HP:0003808	Abnormal muscle tone	8220	ESS2	OMIM:192430
HP:0003808	Abnormal muscle tone	8214	DGCR6	OMIM:192430
HP:0003808	Abnormal muscle tone	54487	DGCR8	OMIM:192430
HP:0003808	Abnormal muscle tone	11261	CHP1	OMIM:618438
HP:0003808	Abnormal muscle tone	51341	ZBTB7A	OMIM:619769
HP:0003808	Abnormal muscle tone	9338	TCEAL1	OMIM:301094
HP:0003808	Abnormal muscle tone	2271	FH	OMIM:606812
HP:0003808	Abnormal muscle tone	23556	PIGN	OMIM:614080
HP:0003808	Abnormal muscle tone	7030	TFE3	OMIM:301066
HP:0003808	Abnormal muscle tone	51651	PTRH2	OMIM:616263
HP:0003808	Abnormal muscle tone	23162	MAPK8IP3	OMIM:618443
HP:0003808	Abnormal muscle tone	4123	MAN2C1	OMIM:619775
HP:0003808	Abnormal muscle tone	54941	RNF125	OMIM:616260
HP:0003808	Abnormal muscle tone	259232	NALCN	OMIM:616266
HP:0003808	Abnormal muscle tone	259232	NALCN	ORPHA:371364
HP:0003808	Abnormal muscle tone	7994	KAT6A	OMIM:616268
HP:0003808	Abnormal muscle tone	23219	FBXO28	OMIM:619777
HP:0003808	Abnormal muscle tone	10195	ALG3	ORPHA:79321
HP:0003808	Abnormal muscle tone	367	AR	ORPHA:481
HP:0003808	Abnormal muscle tone	51645	PPIL1	OMIM:619301
HP:0003808	Abnormal muscle tone	8295	TRRAP	OMIM:618454
HP:0003808	Abnormal muscle tone	4509	MT-ATP8	ORPHA:480
HP:0003808	Abnormal muscle tone	4567	MT-TL1	ORPHA:480
HP:0003808	Abnormal muscle tone	51362	CDC40	OMIM:619302
HP:0003808	Abnormal muscle tone	51117	COQ4	OMIM:616276
HP:0003808	Abnormal muscle tone	51013	EXOSC1	OMIM:619304
HP:0003808	Abnormal muscle tone	846	CASR	OMIM:239200
HP:0003808	Abnormal muscle tone	846	CASR	ORPHA:417
HP:0003808	Abnormal muscle tone	7080	NKX2-1	OMIM:610978
HP:0003808	Abnormal muscle tone	7080	NKX2-1	ORPHA:95713
HP:0003808	Abnormal muscle tone	2260	FGFR1	ORPHA:478
HP:0003808	Abnormal muscle tone	10371	SEMA3A	ORPHA:478
HP:0003808	Abnormal muscle tone	81848	SPRY4	ORPHA:478
HP:0003808	Abnormal muscle tone	23767	FLRT3	ORPHA:478
HP:0003808	Abnormal muscle tone	128674	PROKR2	ORPHA:478
HP:0003808	Abnormal muscle tone	79625	NDNF	ORPHA:478
HP:0003808	Abnormal muscle tone	2253	FGF8	ORPHA:478
HP:0003808	Abnormal muscle tone	389549	FEZF1	ORPHA:478
HP:0003808	Abnormal muscle tone	3730	ANOS1	ORPHA:478
HP:0003808	Abnormal muscle tone	54756	IL17RD	ORPHA:478
HP:0003808	Abnormal muscle tone	285025	CCDC141	ORPHA:478
HP:0003808	Abnormal muscle tone	60675	PROK2	ORPHA:478
HP:0003808	Abnormal muscle tone	1848	DUSP6	ORPHA:478
HP:0003808	Abnormal muscle tone	6870	TACR3	ORPHA:478
HP:0003808	Abnormal muscle tone	55717	WDR11	ORPHA:478
HP:0003808	Abnormal muscle tone	9394	HS6ST1	ORPHA:478
HP:0003808	Abnormal muscle tone	8822	FGF17	ORPHA:478
HP:0003808	Abnormal muscle tone	79944	L2HGDH	ORPHA:79314
HP:0003808	Abnormal muscle tone	84706	GPT2	OMIM:616281
HP:0003808	Abnormal muscle tone	6492	SIM1	ORPHA:369873
HP:0003808	Abnormal muscle tone	5898	RALA	OMIM:619311
HP:0003808	Abnormal muscle tone	54892	NCAPG2	OMIM:618460
HP:0003808	Abnormal muscle tone	112	ADCY6	OMIM:616287
HP:0003808	Abnormal muscle tone	112	ADCY6	ORPHA:2680
HP:0003808	Abnormal muscle tone	8506	CNTNAP1	OMIM:616286
HP:0003808	Abnormal muscle tone	8506	CNTNAP1	ORPHA:2680
HP:0003808	Abnormal muscle tone	9256	TSPOAP1	ORPHA:101150
HP:0003808	Abnormal muscle tone	7054	TH	ORPHA:101150
HP:0003808	Abnormal muscle tone	10102	TSFM	OMIM:610505
HP:0003808	Abnormal muscle tone	51412	ACTL6B	OMIM:618470
HP:0003808	Abnormal muscle tone	6792	CDKL5	ORPHA:3095
HP:0003808	Abnormal muscle tone	6792	CDKL5	OMIM:300672
HP:0003808	Abnormal muscle tone	22854	NTNG1	ORPHA:3095
HP:0003808	Abnormal muscle tone	9568	GABBR2	ORPHA:3095
HP:0003808	Abnormal muscle tone	4204	MECP2	ORPHA:3095
HP:0003808	Abnormal muscle tone	4204	MECP2	OMIM:300260
HP:0003808	Abnormal muscle tone	2623	GATA1	OMIM:190685
HP:0003808	Abnormal muscle tone	29998	BICRA	OMIM:619325
HP:0003808	Abnormal muscle tone	6651	SON	OMIM:617140
HP:0003808	Abnormal muscle tone	23030	KDM4B	OMIM:619320
HP:0003808	Abnormal muscle tone	55503	TRPV6	ORPHA:417
HP:0003808	Abnormal muscle tone	84892	POMGNT2	ORPHA:899
HP:0003808	Abnormal muscle tone	84892	POMGNT2	OMIM:614830
HP:0003808	Abnormal muscle tone	1282	COL4A1	ORPHA:899
HP:0003808	Abnormal muscle tone	10329	RXYLT1	ORPHA:899
HP:0003808	Abnormal muscle tone	84197	POMK	ORPHA:899
HP:0003808	Abnormal muscle tone	8869	ST3GAL5	OMIM:609056
HP:0003808	Abnormal muscle tone	1725	DHPS	OMIM:618480
HP:0003808	Abnormal muscle tone	25929	GEMIN5	OMIM:619333
HP:0003808	Abnormal muscle tone	2560	GABRB1	OMIM:617153
HP:0003808	Abnormal muscle tone	23221	RHOBTB2	OMIM:618004
HP:0003808	Abnormal muscle tone	2530	FUT8	OMIM:618005
HP:0003808	Abnormal muscle tone	54496	PRMT7	OMIM:617157
HP:0003808	Abnormal muscle tone	23345	SYNE1	OMIM:618484
HP:0003808	Abnormal muscle tone	23345	SYNE1	ORPHA:98853
HP:0003808	Abnormal muscle tone	1108	CHD4	OMIM:617159
HP:0003808	Abnormal muscle tone	9969	MED13	OMIM:618009
HP:0003808	Abnormal muscle tone	23389	MED13L	ORPHA:369891
HP:0003808	Abnormal muscle tone	6712	SPTBN2	OMIM:600224
HP:0003808	Abnormal muscle tone	8091	HMGA2	ORPHA:94063
HP:0003808	Abnormal muscle tone	23592	LEMD3	ORPHA:94063
HP:0003808	Abnormal muscle tone	26276	VPS33B	OMIM:208085
HP:0003808	Abnormal muscle tone	774	CACNA1B	OMIM:618497
HP:0003808	Abnormal muscle tone	1822	ATN1	OMIM:618494
HP:0003808	Abnormal muscle tone	4126	MANBA	OMIM:248510
HP:0003808	Abnormal muscle tone	523	ATP6V1A	OMIM:618012
HP:0003808	Abnormal muscle tone	2257	FGF12	OMIM:617166
HP:0003808	Abnormal muscle tone	3930	LBR	OMIM:618019
HP:0003808	Abnormal muscle tone	1280	COL2A1	OMIM:183900
HP:0003808	Abnormal muscle tone	60386	SLC25A19	ORPHA:99742
HP:0003808	Abnormal muscle tone	9791	PTDSS1	OMIM:151050
HP:0003808	Abnormal muscle tone	9791	PTDSS1	ORPHA:2658
HP:0003808	Abnormal muscle tone	37	ACADVL	OMIM:201475
HP:0003808	Abnormal muscle tone	5977	DPF2	OMIM:618027
HP:0003808	Abnormal muscle tone	5457	POU4F1	OMIM:619352
HP:0003808	Abnormal muscle tone	35	ACADS	OMIM:201470
HP:0003808	Abnormal muscle tone	26005	C2CD3	ORPHA:434179
HP:0003808	Abnormal muscle tone	57514	ARHGAP31	OMIM:100300
HP:0003808	Abnormal muscle tone	788	SLC25A20	OMIM:212138
HP:0003808	Abnormal muscle tone	8086	AAAS	ORPHA:869
HP:0003808	Abnormal muscle tone	55210	ATAD3A	OMIM:617183
HP:0003808	Abnormal muscle tone	55210	ATAD3A	OMIM:618810
HP:0003808	Abnormal muscle tone	285590	SH3PXD2B	OMIM:249420
HP:0003808	Abnormal muscle tone	128240	NAXE	OMIM:617186
HP:0003808	Abnormal muscle tone	226	ALDOA	OMIM:611881
HP:0003808	Abnormal muscle tone	539	ATP5PO	OMIM:620359
HP:0003808	Abnormal muscle tone	1028	CDKN1C	ORPHA:85173
HP:0003808	Abnormal muscle tone	5426	POLE	ORPHA:85173
HP:0003808	Abnormal muscle tone	55252	ASXL2	OMIM:617190
HP:0003808	Abnormal muscle tone	6904	TBCD	OMIM:617193
HP:0003808	Abnormal muscle tone	6571	SLC18A2	OMIM:618049
HP:0003808	Abnormal muscle tone	1984	EIF5A	OMIM:619376
HP:0003808	Abnormal muscle tone	210	ALAD	OMIM:612740
HP:0003808	Abnormal muscle tone	5236	PGM1	OMIM:614921
HP:0003808	Abnormal muscle tone	3295	HSD17B4	OMIM:261515
HP:0003808	Abnormal muscle tone	124454	EARS2	OMIM:614924
HP:0003808	Abnormal muscle tone	55074	OXR1	OMIM:213000
HP:0003808	Abnormal muscle tone	129285	PPP1R21	OMIM:619383
HP:0003808	Abnormal muscle tone	27072	VPS41	OMIM:619389
HP:0003808	Abnormal muscle tone	9054	NFS1	OMIM:619386
HP:0003808	Abnormal muscle tone	6584	SLC22A5	OMIM:212140
HP:0003808	Abnormal muscle tone	4702	NDUFA8	OMIM:619272
HP:0003808	Abnormal muscle tone	27183	VPS4A	OMIM:619273
HP:0003808	Abnormal muscle tone	10128	LRPPRC	OMIM:220111
HP:0003808	Abnormal muscle tone	10128	LRPPRC	ORPHA:70472
HP:0003808	Abnormal muscle tone	158	ADSL	OMIM:103050
HP:0003808	Abnormal muscle tone	4574	MT-TS1	OMIM:220110
HP:0003808	Abnormal muscle tone	4570	MT-TN	OMIM:220110
HP:0003808	Abnormal muscle tone	55777	MBD5	ORPHA:228402
HP:0003808	Abnormal muscle tone	10479	SLC9A6	OMIM:300243
HP:0003808	Abnormal muscle tone	8443	GNPAT	OMIM:222765
HP:0003808	Abnormal muscle tone	9442	MED27	OMIM:619286
HP:0003808	Abnormal muscle tone	51360	MBTPS2	ORPHA:2273
HP:0003808	Abnormal muscle tone	3899	AFF3	OMIM:619297
HP:0003808	Abnormal muscle tone	36	ACADSB	OMIM:610006
HP:0003808	Abnormal muscle tone	7841	MOGS	OMIM:606056
HP:0003808	Abnormal muscle tone	8802	SUCLG1	OMIM:245400
HP:0003808	Abnormal muscle tone	132158	GLYCTK	OMIM:220120
HP:0003808	Abnormal muscle tone	4338	MOCS2	OMIM:252160
HP:0003808	Abnormal muscle tone	649	BMP1	OMIM:614856
HP:0003808	Abnormal muscle tone	2752	GLUL	OMIM:610015
HP:0003808	Abnormal muscle tone	5826	ABCD4	OMIM:614857
HP:0003808	Abnormal muscle tone	6804	STX1A	ORPHA:904
HP:0003808	Abnormal muscle tone	7461	CLIP2	ORPHA:904
HP:0003808	Abnormal muscle tone	84277	DNAJC30	ORPHA:904
HP:0003808	Abnormal muscle tone	8468	FKBP6	ORPHA:904
HP:0003808	Abnormal muscle tone	5982	RFC2	ORPHA:904
HP:0003808	Abnormal muscle tone	2969	GTF2I	ORPHA:904
HP:0003808	Abnormal muscle tone	3984	LIMK1	ORPHA:904
HP:0003808	Abnormal muscle tone	9569	GTF2IRD1	ORPHA:904
HP:0003808	Abnormal muscle tone	155382	VPS37D	ORPHA:904
HP:0003808	Abnormal muscle tone	155368	METTL27	ORPHA:904
HP:0003808	Abnormal muscle tone	114049	BUD23	ORPHA:904
HP:0003808	Abnormal muscle tone	7458	EIF4H	ORPHA:904
HP:0003808	Abnormal muscle tone	84163	GTF2IRD2	ORPHA:904
HP:0003808	Abnormal muscle tone	9275	BCL7B	ORPHA:904
HP:0003808	Abnormal muscle tone	26608	TBL2	ORPHA:904
HP:0003808	Abnormal muscle tone	653361	NCF1	ORPHA:904
HP:0003808	Abnormal muscle tone	135886	TMEM270	ORPHA:904
HP:0003808	Abnormal muscle tone	9031	BAZ1B	ORPHA:904
HP:0003808	Abnormal muscle tone	11340	EXOSC8	ORPHA:2254
HP:0003808	Abnormal muscle tone	5393	EXOSC9	ORPHA:2254
HP:0003808	Abnormal muscle tone	51010	EXOSC3	ORPHA:2254
HP:0003808	Abnormal muscle tone	93210	PGAP3	OMIM:615716
HP:0003808	Abnormal muscle tone	4952	OCRL	OMIM:309000
HP:0003808	Abnormal muscle tone	728294	D2HGDH	OMIM:600721
HP:0003808	Abnormal muscle tone	471	ATIC	OMIM:608688
HP:0003808	Abnormal muscle tone	9342	SNAP29	OMIM:609528
HP:0003808	Abnormal muscle tone	254065	BRWD3	OMIM:300659
HP:0003808	Abnormal muscle tone	50628	GEMIN4	OMIM:617913
HP:0003808	Abnormal muscle tone	1384	CRAT	OMIM:617917
HP:0003808	Abnormal muscle tone	91574	MTRFR	OMIM:613559
HP:0003808	Abnormal muscle tone	85021	REPS1	OMIM:617916
HP:0003808	Abnormal muscle tone	2273	FHL1	ORPHA:98863
HP:0003808	Abnormal muscle tone	2010	EMD	ORPHA:98863
HP:0003808	Abnormal muscle tone	3329	HSPD1	OMIM:612233
HP:0003808	Abnormal muscle tone	6310	ATXN1	OMIM:164400
HP:0003808	Abnormal muscle tone	79188	TMEM43	ORPHA:98853
HP:0003808	Abnormal muscle tone	23224	SYNE2	ORPHA:98853
HP:0003808	Abnormal muscle tone	2632	GBE1	OMIM:232500
HP:0003808	Abnormal muscle tone	6328	SCN3A	OMIM:617935
HP:0003808	Abnormal muscle tone	7545	ZIC1	OMIM:616602
HP:0003808	Abnormal muscle tone	27249	MMADHC	OMIM:277410
HP:0003808	Abnormal muscle tone	57465	TBC1D24	OMIM:220500
HP:0003808	Abnormal muscle tone	57465	TBC1D24	OMIM:615338
HP:0003808	Abnormal muscle tone	5859	QARS1	OMIM:615760
HP:0003808	Abnormal muscle tone	79631	EFL1	OMIM:617941
HP:0003808	Abnormal muscle tone	7280	TUBB2A	OMIM:615763
HP:0003808	Abnormal muscle tone	30008	EFEMP2	OMIM:614437
HP:0003808	Abnormal muscle tone	5172	SLC26A4	ORPHA:95720
HP:0003808	Abnormal muscle tone	5172	SLC26A4	ORPHA:95713
HP:0003808	Abnormal muscle tone	101929726	MYMX	ORPHA:1358
HP:0003808	Abnormal muscle tone	51116	MRPS2	OMIM:617950
HP:0003808	Abnormal muscle tone	9512	PMPCB	OMIM:617954
HP:0003808	Abnormal muscle tone	405753	DUOXA2	ORPHA:95716
HP:0003808	Abnormal muscle tone	6528	SLC5A5	ORPHA:95716
HP:0003808	Abnormal muscle tone	7038	TG	ORPHA:95716
HP:0003808	Abnormal muscle tone	7173	TPO	ORPHA:95716
HP:0003808	Abnormal muscle tone	389434	IYD	ORPHA:95716
HP:0003808	Abnormal muscle tone	1482	NKX2-5	ORPHA:95713
HP:0003808	Abnormal muscle tone	1482	NKX2-5	ORPHA:95712
HP:0003808	Abnormal muscle tone	2304	FOXE1	ORPHA:95713
HP:0003808	Abnormal muscle tone	64131	XYLT1	OMIM:615777
HP:0003808	Abnormal muscle tone	9056	SLC7A7	OMIM:222700
HP:0003808	Abnormal muscle tone	54664	TMEM106B	OMIM:617964
HP:0003808	Abnormal muscle tone	7421	VDR	OMIM:277440
HP:0003808	Abnormal muscle tone	1729	DIAPH1	OMIM:616632
HP:0003808	Abnormal muscle tone	175	AGA	OMIM:208400
HP:0003808	Abnormal muscle tone	27010	TPK1	OMIM:614458
HP:0003808	Abnormal muscle tone	11019	LIAS	OMIM:614462
HP:0003808	Abnormal muscle tone	56270	WDR45B	OMIM:617977
HP:0003808	Abnormal muscle tone	285175	UNC80	ORPHA:371364
HP:0003808	Abnormal muscle tone	23630	KCNE5	ORPHA:86818
HP:0003808	Abnormal muscle tone	9949	AMMECR1	ORPHA:86818
HP:0003808	Abnormal muscle tone	5162	PDHB	ORPHA:255138
HP:0003808	Abnormal muscle tone	51305	KCNK9	OMIM:612292
HP:0003808	Abnormal muscle tone	100151683	RNU4ATAC	OMIM:616651
HP:0003808	Abnormal muscle tone	54870	QRICH1	OMIM:617982
HP:0003808	Abnormal muscle tone	2670	GFAP	ORPHA:363717
HP:0003808	Abnormal muscle tone	55704	CCDC88A	OMIM:617507
HP:0003808	Abnormal muscle tone	5500	PPP1CB	OMIM:617506
HP:0003808	Abnormal muscle tone	54676	GTPBP2	OMIM:617988
HP:0003808	Abnormal muscle tone	100506658	OCLN	OMIM:251290
HP:0003808	Abnormal muscle tone	9197	SLC33A1	OMIM:614482
HP:0003808	Abnormal muscle tone	200205	IBA57	OMIM:615330
HP:0003808	Abnormal muscle tone	25974	MMACHC	ORPHA:79282
HP:0003808	Abnormal muscle tone	25974	MMACHC	OMIM:277400
HP:0003808	Abnormal muscle tone	5718	PSMD12	OMIM:617516
HP:0003808	Abnormal muscle tone	2639	GCDH	OMIM:231670
HP:0003808	Abnormal muscle tone	51733	UPB1	OMIM:613161
HP:0003808	Abnormal muscle tone	18	ABAT	OMIM:613163
HP:0003808	Abnormal muscle tone	79587	CARS2	OMIM:616672
HP:0003808	Abnormal muscle tone	9181	ARHGEF2	OMIM:617523
HP:0003808	Abnormal muscle tone	2108	ETFA	OMIM:231680
HP:0003808	Abnormal muscle tone	2109	ETFB	OMIM:231680
HP:0003808	Abnormal muscle tone	2110	ETFDH	OMIM:231680
HP:0003808	Abnormal muscle tone	5052	PRDX1	OMIM:277400
HP:0003808	Abnormal muscle tone	2582	GALE	OMIM:230350
HP:0003808	Abnormal muscle tone	10749	KIF1C	ORPHA:397946
HP:0003808	Abnormal muscle tone	10749	KIF1C	OMIM:611302
HP:0003808	Abnormal muscle tone	4750	NEK1	OMIM:617892
HP:0003808	Abnormal muscle tone	4750	NEK1	ORPHA:803
HP:0003808	Abnormal muscle tone	6873	TAF2	OMIM:615599
HP:0003808	Abnormal muscle tone	6873	TAF2	ORPHA:397951
HP:0003808	Abnormal muscle tone	7360	UGP2	OMIM:618744
HP:0003808	Abnormal muscle tone	1786	DNMT1	ORPHA:314404
HP:0003808	Abnormal muscle tone	1786	DNMT1	OMIM:604121
HP:0003808	Abnormal muscle tone	4538	MT-ND4	ORPHA:255210
HP:0003808	Abnormal muscle tone	4578	MT-TW	ORPHA:255210
HP:0003808	Abnormal muscle tone	4577	MT-TV	ORPHA:255210
HP:0003808	Abnormal muscle tone	4540	MT-ND5	ORPHA:255210
HP:0003808	Abnormal muscle tone	4541	MT-ND6	ORPHA:255210
HP:0003808	Abnormal muscle tone	4566	MT-TK	ORPHA:255210
HP:0003808	Abnormal muscle tone	4566	MT-TK	OMIM:545000
HP:0003808	Abnormal muscle tone	10111	RAD50	OMIM:613078
HP:0003808	Abnormal muscle tone	55681	SCYL2	OMIM:618766
HP:0003808	Abnormal muscle tone	2697	GJA1	ORPHA:2710
HP:0003808	Abnormal muscle tone	2697	GJA1	OMIM:164200
HP:0003808	Abnormal muscle tone	4558	MT-TF	OMIM:545000
HP:0003808	Abnormal muscle tone	4571	MT-TP	OMIM:545000
HP:0003808	Abnormal muscle tone	4565	MT-TI	OMIM:545000
HP:0003808	Abnormal muscle tone	25930	PTPN23	OMIM:618890
HP:0003808	Abnormal muscle tone	5833	PCYT2	OMIM:618770
HP:0003808	Abnormal muscle tone	2911	GRM1	OMIM:617691
HP:0003808	Abnormal muscle tone	285362	SUMF1	OMIM:272200
HP:0003808	Abnormal muscle tone	472	ATM	ORPHA:100
HP:0003808	Abnormal muscle tone	9533	POLR1C	OMIM:616494
HP:0003808	Abnormal muscle tone	79991	STN1	OMIM:617341
HP:0003808	Abnormal muscle tone	9276	COPB2	OMIM:619884
HP:0003808	Abnormal muscle tone	9276	COPB2	OMIM:617800
HP:0003808	Abnormal muscle tone	146227	BEAN1	ORPHA:217012
HP:0003808	Abnormal muscle tone	7143	TNR	OMIM:619653
HP:0003808	Abnormal muscle tone	374969	SVBP	OMIM:618569
HP:0003808	Abnormal muscle tone	79641	ROGDI	ORPHA:1946
HP:0003808	Abnormal muscle tone	79641	ROGDI	OMIM:226750
HP:0003808	Abnormal muscle tone	3658	IREB2	OMIM:618451
HP:0003808	Abnormal muscle tone	9091	PIGQ	ORPHA:1934
HP:0003808	Abnormal muscle tone	4761	NEUROD2	ORPHA:1934
HP:0003808	Abnormal muscle tone	1203	CLN5	ORPHA:228360
HP:0003808	Abnormal muscle tone	84894	LINGO1	OMIM:618103
HP:0003808	Abnormal muscle tone	85476	GFM1	OMIM:609060
HP:0003808	Abnormal muscle tone	387119	CEP85L	ORPHA:572013
HP:0003808	Abnormal muscle tone	427	ASAH1	ORPHA:333
HP:0003808	Abnormal muscle tone	10588	MTHFS	OMIM:618367
HP:0003808	Abnormal muscle tone	63925	ZNF335	OMIM:615095
HP:0003808	Abnormal muscle tone	92255	LMBRD2	OMIM:619694
HP:0003808	Abnormal muscle tone	54834	GDAP2	OMIM:618369
HP:0003808	Abnormal muscle tone	2009	EML1	OMIM:600348
HP:0003808	Abnormal muscle tone	9758	FRMPD4	OMIM:300983
HP:0003808	Abnormal muscle tone	8635	RNASET2	OMIM:612951
HP:0003808	Abnormal muscle tone	9927	MFN2	OMIM:609260
HP:0003808	Abnormal muscle tone	378884	NHLRC1	ORPHA:501
HP:0003808	Abnormal muscle tone	7957	EPM2A	ORPHA:501
HP:0003808	Abnormal muscle tone	2571	GAD1	OMIM:619124
HP:0003808	Abnormal muscle tone	7284	TUFM	OMIM:610678
HP:0003808	Abnormal muscle tone	1315	COPB1	OMIM:619255
HP:0003808	Abnormal muscle tone	727676	SNORD118	ORPHA:542310
HP:0003808	Abnormal muscle tone	727676	SNORD118	OMIM:614561
HP:0003808	Abnormal muscle tone	283	ANG	OMIM:611895
HP:0003808	Abnormal muscle tone	283	ANG	ORPHA:803
HP:0003808	Abnormal muscle tone	5216	PFN1	OMIM:614808
HP:0003808	Abnormal muscle tone	5216	PFN1	ORPHA:803
HP:0003808	Abnormal muscle tone	23236	PLCB1	OMIM:613722
HP:0003808	Abnormal muscle tone	27445	PCLO	OMIM:608027
HP:0003808	Abnormal muscle tone	11113	CIT	OMIM:617090
HP:0003808	Abnormal muscle tone	375	ARF1	OMIM:618185
HP:0003808	Abnormal muscle tone	83700	JAM3	OMIM:613730
HP:0003808	Abnormal muscle tone	1593	CYP27A1	OMIM:213700
HP:0003808	Abnormal muscle tone	1593	CYP27A1	ORPHA:909
HP:0003808	Abnormal muscle tone	9915	ARNT2	OMIM:615926
HP:0003808	Abnormal muscle tone	1351	COX8A	OMIM:619059
HP:0003808	Abnormal muscle tone	7276	TTR	OMIM:105210
HP:0003808	Abnormal muscle tone	1678	TIMM8A	OMIM:304700
HP:0003808	Abnormal muscle tone	26090	ABHD12	OMIM:612674
HP:0003808	Abnormal muscle tone	2395	FXN	ORPHA:95
HP:0003808	Abnormal muscle tone	9440	MED17	OMIM:613668
HP:0003808	Abnormal muscle tone	84919	PPP1R15B	OMIM:616817
HP:0003808	Abnormal muscle tone	3178	HNRNPA1	ORPHA:803
HP:0003808	Abnormal muscle tone	8148	TAF15	ORPHA:803
HP:0003808	Abnormal muscle tone	5445	PON2	ORPHA:803
HP:0003808	Abnormal muscle tone	9217	VAPB	ORPHA:803
HP:0003808	Abnormal muscle tone	8878	SQSTM1	ORPHA:803
HP:0003808	Abnormal muscle tone	5630	PRPH	ORPHA:803
HP:0003808	Abnormal muscle tone	5630	PRPH	OMIM:105400
HP:0003808	Abnormal muscle tone	29110	TBK1	ORPHA:803
HP:0003808	Abnormal muscle tone	55830	GLT8D1	ORPHA:803
HP:0003808	Abnormal muscle tone	755	CFAP410	ORPHA:803
HP:0003808	Abnormal muscle tone	10891	PPARGC1A	ORPHA:803
HP:0003808	Abnormal muscle tone	10133	OPTN	ORPHA:803
HP:0003808	Abnormal muscle tone	5444	PON1	ORPHA:803
HP:0003808	Abnormal muscle tone	5446	PON3	ORPHA:803
HP:0003808	Abnormal muscle tone	4744	NEFH	ORPHA:803
HP:0003808	Abnormal muscle tone	4744	NEFH	OMIM:105400
HP:0003808	Abnormal muscle tone	9782	MATR3	ORPHA:803
HP:0003808	Abnormal muscle tone	54209	TREM2	ORPHA:803
HP:0003808	Abnormal muscle tone	54209	TREM2	ORPHA:2770
HP:0003808	Abnormal muscle tone	23435	TARDBP	ORPHA:803
HP:0003808	Abnormal muscle tone	23435	TARDBP	OMIM:612069
HP:0003808	Abnormal muscle tone	29978	UBQLN2	ORPHA:803
HP:0003808	Abnormal muscle tone	2043	EPHA4	ORPHA:803
HP:0003808	Abnormal muscle tone	1610	DAO	ORPHA:803
HP:0003808	Abnormal muscle tone	2066	ERBB4	ORPHA:803
HP:0003808	Abnormal muscle tone	311	ANXA11	ORPHA:803
HP:0003808	Abnormal muscle tone	23025	UNC13A	ORPHA:803
HP:0003808	Abnormal muscle tone	899	CCNF	ORPHA:803
HP:0003808	Abnormal muscle tone	400916	CHCHD10	ORPHA:803
HP:0003808	Abnormal muscle tone	57410	SCYL1	OMIM:616719
HP:0003808	Abnormal muscle tone	57410	SCYL1	ORPHA:466794
HP:0003808	Abnormal muscle tone	7507	XPA	ORPHA:910
HP:0003808	Abnormal muscle tone	7507	XPA	OMIM:278700
HP:0003808	Abnormal muscle tone	7508	XPC	ORPHA:910
HP:0003808	Abnormal muscle tone	1643	DDB2	ORPHA:910
HP:0003808	Abnormal muscle tone	23600	AMACR	OMIM:614307
HP:0003808	Abnormal muscle tone	55187	VPS13D	OMIM:607317
HP:0003808	Abnormal muscle tone	57505	AARS2	OMIM:615889
HP:0003808	Abnormal muscle tone	2891	GRIA2	OMIM:618917
HP:0003808	Abnormal muscle tone	6314	ATXN7	OMIM:164500
HP:0003808	Abnormal muscle tone	2058	EPRS1	OMIM:617951
HP:0003808	Abnormal muscle tone	84693	MCEE	OMIM:251120
HP:0003808	Abnormal muscle tone	1641	DCX	OMIM:300067
HP:0003808	Abnormal muscle tone	81689	ISCA1	OMIM:617613
HP:0003808	Abnormal muscle tone	7305	TYROBP	ORPHA:2770
HP:0003808	Abnormal muscle tone	7305	TYROBP	OMIM:221770
HP:0003808	Abnormal muscle tone	22934	RPIA	OMIM:608611
HP:0003808	Abnormal muscle tone	23209	MLC1	OMIM:604004
HP:0003808	Abnormal muscle tone	84628	NTNG2	OMIM:618718
HP:0003808	Abnormal muscle tone	5873	RAB27A	OMIM:607624
HP:0003808	Abnormal muscle tone	9439	MED23	OMIM:614249
HP:0003808	Abnormal muscle tone	8884	SLC5A6	OMIM:618973
HP:0003808	Abnormal muscle tone	80169	CTC1	OMIM:612199
HP:0003808	Abnormal muscle tone	10844	TUBGCP2	OMIM:618737
HP:0003808	Abnormal muscle tone	55753	OGDHL	OMIM:619701
HP:0003808	Abnormal muscle tone	5133	PDCD1	OMIM:126200
HP:0003808	Abnormal muscle tone	3123	HLA-DRB1	OMIM:126200
HP:0003808	Abnormal muscle tone	55182	RNF220	OMIM:619688
HP:0003808	Abnormal muscle tone	518	ATP5MC3	OMIM:619681
HP:0003808	Abnormal muscle tone	5077	PAX3	ORPHA:896
HP:0003808	Abnormal muscle tone	5077	PAX3	OMIM:148820
HP:0003808	Abnormal muscle tone	51324	SPG21	OMIM:248900
HP:0003808	Abnormal muscle tone	64834	ELOVL1	OMIM:618527
HP:0003808	Abnormal muscle tone	7920	ABHD16A	OMIM:619735
HP:0003808	Abnormal muscle tone	1130	LYST	ORPHA:167
HP:0003808	Abnormal muscle tone	64837	KLC2	OMIM:609541
HP:0003808	Abnormal muscle tone	23064	SETX	ORPHA:357043
HP:0003808	Abnormal muscle tone	953	ENTPD1	OMIM:615683
HP:0003808	Abnormal muscle tone	83636	C19orf12	OMIM:615043
HP:0003808	Abnormal muscle tone	23204	ARL6IP1	OMIM:615685
HP:0003808	Abnormal muscle tone	84842	HPDL	OMIM:619026
HP:0003808	Abnormal muscle tone	84842	HPDL	OMIM:619027
HP:0003808	Abnormal muscle tone	55656	INTS8	OMIM:618572
HP:0003808	Abnormal muscle tone	137492	VPS37A	OMIM:614898
HP:0003808	Abnormal muscle tone	54820	NDE1	ORPHA:2177
HP:0003808	Abnormal muscle tone	8050	PDHX	ORPHA:255182
HP:0003808	Abnormal muscle tone	100147744	RNU7-1	OMIM:619487
HP:0003808	Abnormal muscle tone	10084	PQBP1	ORPHA:93947
HP:0003808	Abnormal muscle tone	55250	ELP2	OMIM:617270
HP:0003808	Abnormal muscle tone	54	ACP5	OMIM:607944
HP:0003808	Abnormal muscle tone	120	ADD3	OMIM:617008
HP:0003808	Abnormal muscle tone	3763	KCNJ6	ORPHA:435628
HP:0003808	Abnormal muscle tone	3763	KCNJ6	OMIM:614098
HP:0003808	Abnormal muscle tone	5723	PSPH	OMIM:614023
HP:0003808	Abnormal muscle tone	5723	PSPH	ORPHA:79350
HP:0003808	Abnormal muscle tone	3008	H1-4	OMIM:617537
HP:0003808	Abnormal muscle tone	6536	SLC6A9	OMIM:617301
HP:0003808	Abnormal muscle tone	55163	PNPO	ORPHA:79096
HP:0003808	Abnormal muscle tone	55163	PNPO	OMIM:610090
HP:0003808	Abnormal muscle tone	284403	WDR62	OMIM:604317
HP:0003808	Abnormal muscle tone	9692	PRORP	OMIM:619737
HP:0003808	Abnormal muscle tone	7274	TTPA	ORPHA:96
HP:0003808	Abnormal muscle tone	23230	VPS13A	ORPHA:2388
HP:0003808	Abnormal muscle tone	7157	TP53	ORPHA:2807
HP:0003808	Abnormal muscle tone	116115	ZNF526	OMIM:619877
HP:0003808	Abnormal muscle tone	5663	PSEN1	ORPHA:1020
HP:0003808	Abnormal muscle tone	5664	PSEN2	ORPHA:1020
HP:0003808	Abnormal muscle tone	10452	TOMM40	ORPHA:1020
HP:0003808	Abnormal muscle tone	351	APP	ORPHA:1020
HP:0003808	Abnormal muscle tone	10347	ABCA7	ORPHA:1020
HP:0003808	Abnormal muscle tone	6653	SORL1	ORPHA:1020
HP:0003808	Abnormal muscle tone	51750	RTEL1	ORPHA:3322
HP:0003808	Abnormal muscle tone	65057	ACD	ORPHA:3322
HP:0003808	Abnormal muscle tone	5073	PARN	ORPHA:3322
HP:0003808	Abnormal muscle tone	7015	TERT	ORPHA:3322
HP:0003808	Abnormal muscle tone	26277	TINF2	ORPHA:3322
HP:0003808	Abnormal muscle tone	26277	TINF2	OMIM:268130
HP:0003808	Abnormal muscle tone	1736	DKC1	ORPHA:3322
HP:0003808	Abnormal muscle tone	3786	KCNQ3	ORPHA:306
HP:0003808	Abnormal muscle tone	5309	PITX3	OMIM:610623
HP:0003808	Abnormal muscle tone	5053	PAH	ORPHA:79254
HP:0003808	Abnormal muscle tone	79068	FTO	OMIM:612938
HP:0003808	Abnormal muscle tone	23229	ARHGEF9	ORPHA:163985
HP:0003808	Abnormal muscle tone	23229	ARHGEF9	OMIM:300607
HP:0003808	Abnormal muscle tone	2138	EYA1	ORPHA:2792
HP:0003808	Abnormal muscle tone	5075	PAX1	ORPHA:2792
HP:0003808	Abnormal muscle tone	91647	ATPAF2	OMIM:604273
HP:0003808	Abnormal muscle tone	27031	NPHP3	OMIM:267010
HP:0003808	Abnormal muscle tone	9451	EIF2AK3	OMIM:226980
HP:0003808	Abnormal muscle tone	8405	SPOP	OMIM:618828
HP:0003808	Abnormal muscle tone	4190	MDH1	OMIM:618959
HP:0003808	Abnormal muscle tone	3516	RBPJ	ORPHA:974
HP:0003808	Abnormal muscle tone	4851	NOTCH1	ORPHA:974
HP:0003808	Abnormal muscle tone	285203	EOGT	ORPHA:974
HP:0003808	Abnormal muscle tone	54567	DLL4	ORPHA:974
HP:0003808	Abnormal muscle tone	85378	TUBGCP6	ORPHA:2518
HP:0003808	Abnormal muscle tone	27229	TUBGCP4	ORPHA:2518
HP:0003808	Abnormal muscle tone	10733	PLK4	ORPHA:2518
HP:0003808	Abnormal muscle tone	23529	CLCF1	ORPHA:1545
HP:0003808	Abnormal muscle tone	9244	CRLF1	ORPHA:1545
HP:0003808	Abnormal muscle tone	8942	KYNU	ORPHA:79155
HP:0003808	Abnormal muscle tone	51399	TRAPPC4	OMIM:618741
HP:0003808	Abnormal muscle tone	2192	FBLN1	ORPHA:404451
HP:0003808	Abnormal muscle tone	2937	GSS	OMIM:266130
HP:0003808	Abnormal muscle tone	348	APOE	OMIM:607822
HP:0003808	Abnormal muscle tone	29960	MRM2	OMIM:618567
HP:0003808	Abnormal muscle tone	54808	DYM	ORPHA:239
HP:0003808	Abnormal muscle tone	8036	SHOC2	OMIM:607721
HP:0003808	Abnormal muscle tone	104	ADARB1	OMIM:618862
HP:0003808	Abnormal muscle tone	23019	CNOT1	OMIM:618500
HP:0003808	Abnormal muscle tone	23019	CNOT1	OMIM:619033
HP:0003808	Abnormal muscle tone	28981	IFT81	OMIM:617895
HP:0003808	Abnormal muscle tone	50651	SLC45A1	OMIM:617532
HP:0003808	Abnormal muscle tone	51569	UFM1	OMIM:617899
HP:0003808	Abnormal muscle tone	1024	CDK8	OMIM:618748
HP:0003808	Abnormal muscle tone	6659	SOX4	OMIM:618506
HP:0003808	Abnormal muscle tone	6228	RPS23	OMIM:617412
HP:0003808	Abnormal muscle tone	9254	CACNA2D2	OMIM:618501
HP:0003808	Abnormal muscle tone	84334	COA8	ORPHA:436271
HP:0003808	Abnormal muscle tone	116931	MED12L	OMIM:618872
HP:0003808	Abnormal muscle tone	10026	PIGK	OMIM:618879
HP:0003808	Abnormal muscle tone	55690	PACS1	OMIM:615009
HP:0003808	Abnormal muscle tone	55904	KMT2E	OMIM:618512
HP:0003808	Abnormal muscle tone	10559	SLC35A1	OMIM:603585
HP:0003808	Abnormal muscle tone	2590	GALNT2	OMIM:618885
HP:0003808	Abnormal muscle tone	818	CAMK2G	OMIM:618522
HP:0003808	Abnormal muscle tone	55154	MSTO1	OMIM:617675
HP:0003808	Abnormal muscle tone	55154	MSTO1	ORPHA:502423
HP:0003808	Abnormal muscle tone	4620	MYH2	OMIM:605637
HP:0003808	Abnormal muscle tone	6872	TAF1	ORPHA:480907
HP:0003808	Abnormal muscle tone	6872	TAF1	OMIM:300966
HP:0003808	Abnormal muscle tone	8726	EED	OMIM:617561
HP:0003808	Abnormal muscle tone	4330	MN1	OMIM:618774
HP:0003808	Abnormal muscle tone	88	ACTN2	OMIM:618654
HP:0003808	Abnormal muscle tone	388962	BOLA3	OMIM:614299
HP:0003808	Abnormal muscle tone	3782	KCNN3	OMIM:618658
HP:0003808	Abnormal muscle tone	6905	TBCE	OMIM:617207
HP:0003808	Abnormal muscle tone	6905	TBCE	ORPHA:496756
HP:0003808	Abnormal muscle tone	284439	SLC25A42	OMIM:618416
HP:0003808	Abnormal muscle tone	253738	EBF3	OMIM:617330
HP:0003808	Abnormal muscle tone	1186	CLCN7	OMIM:618541
HP:0003808	Abnormal muscle tone	339983	NAT8L	OMIM:614063
HP:0003808	Abnormal muscle tone	23512	SUZ12	OMIM:618786
HP:0003808	Abnormal muscle tone	29081	METTL5	OMIM:618665
HP:0003808	Abnormal muscle tone	8879	SGPL1	OMIM:617575
HP:0003808	Abnormal muscle tone	55773	TBC1D23	OMIM:617695
HP:0003808	Abnormal muscle tone	8558	CDK10	OMIM:617694
HP:0003808	Abnormal muscle tone	51633	OTUD6B	OMIM:617452
HP:0003808	Abnormal muscle tone	51633	OTUD6B	ORPHA:505237
HP:0003808	Abnormal muscle tone	122961	ISCA2	OMIM:616370
HP:0003808	Abnormal muscle tone	7358	UGDH	OMIM:618792
HP:0003808	Abnormal muscle tone	200424	TET3	OMIM:618798
HP:0003808	Abnormal muscle tone	9772	TMEM94	OMIM:618316
HP:0003808	Abnormal muscle tone	51567	TDP2	ORPHA:404493
HP:0003808	Abnormal muscle tone	51567	TDP2	OMIM:616949
HP:0003808	Abnormal muscle tone	23007	PLCH1	OMIM:619895
HP:0003808	Abnormal muscle tone	9922	IQSEC1	OMIM:618687
HP:0003808	Abnormal muscle tone	2562	GABRB3	OMIM:617113
HP:0003808	Abnormal muscle tone	9725	TMEM63A	OMIM:618688
HP:0003808	Abnormal muscle tone	404672	GTF2H5	ORPHA:33364
HP:0003808	Abnormal muscle tone	7737	RNF113A	ORPHA:33364
HP:0003808	Abnormal muscle tone	6897	TARS1	ORPHA:33364
HP:0003808	Abnormal muscle tone	2071	ERCC3	ORPHA:33364
HP:0003808	Abnormal muscle tone	2961	GTF2E2	ORPHA:33364
HP:0003808	Abnormal muscle tone	7040	TGFB1	OMIM:618213
HP:0003808	Abnormal muscle tone	5587	PRKD1	OMIM:617364
HP:0003808	Abnormal muscle tone	5081	PAX7	OMIM:618578
HP:0003808	Abnormal muscle tone	4625	MYH7	ORPHA:324604
HP:0003808	Abnormal muscle tone	7273	TTN	ORPHA:324604
HP:0003808	Abnormal muscle tone	7273	TTN	ORPHA:169186
HP:0003808	Abnormal muscle tone	9488	PIGB	OMIM:618580
HP:0003808	Abnormal muscle tone	2775	GNAO1	OMIM:617493
HP:0003808	Abnormal muscle tone	54517	PUS7	OMIM:618342
HP:0003808	Abnormal muscle tone	50814	NSDHL	ORPHA:251383
HP:0003808	Abnormal muscle tone	50814	NSDHL	OMIM:300831
HP:0003808	Abnormal muscle tone	7681	MKRN3	OMIM:176270
HP:0003808	Abnormal muscle tone	3653	IPW	OMIM:176270
HP:0003808	Abnormal muscle tone	791114	PWRN1	OMIM:176270
HP:0003808	Abnormal muscle tone	100033413	SNORD116-1	OMIM:176270
HP:0003808	Abnormal muscle tone	8924	HERC2	OMIM:176270
HP:0003808	Abnormal muscle tone	8924	HERC2	OMIM:615516
HP:0003808	Abnormal muscle tone	145624	PWAR1	OMIM:176270
HP:0003808	Abnormal muscle tone	23742	NPAP1	OMIM:176270
HP:0003808	Abnormal muscle tone	338433	SNORD115-1	OMIM:176270
HP:0003808	Abnormal muscle tone	1120	CHKB	OMIM:602541
HP:0003808	Abnormal muscle tone	56521	DNAJC12	OMIM:617384
HP:0003808	Abnormal muscle tone	10978	CLP1	ORPHA:411493
HP:0003808	Abnormal muscle tone	57520	HECW2	OMIM:617268
HP:0003808	Abnormal muscle tone	3417	IDH1	ORPHA:99646
HP:0003808	Abnormal muscle tone	28982	FLVCR1	ORPHA:88628
HP:0003808	Abnormal muscle tone	51132	RLIM	OMIM:300978
HP:0003808	Abnormal muscle tone	11274	USP18	OMIM:617397
HP:0003808	Abnormal muscle tone	201163	FLCN	OMIM:610883
HP:0003808	Abnormal muscle tone	6821	SUOX	OMIM:272300
HP:0003808	Abnormal muscle tone	22827	PUF60	ORPHA:508488
HP:0003808	Abnormal muscle tone	1781	DYNC1I2	OMIM:618492
HP:0003808	Abnormal muscle tone	56776	FMN2	OMIM:616193
HP:0003808	Abnormal muscle tone	4556	MT-TE	ORPHA:254864
HP:0003808	Abnormal muscle tone	63931	MRPS14	OMIM:618378
HP:0003808	Abnormal muscle tone	54681	P4HTM	OMIM:618493
HP:0003808	Abnormal muscle tone	4714	NDUFB8	OMIM:618252
HP:0003808	Abnormal muscle tone	5283	PIGH	OMIM:618010
HP:0003808	Abnormal muscle tone	8943	AP3D1	OMIM:617050
HP:0003808	Abnormal muscle tone	64849	SLC13A3	OMIM:618384
HP:0003808	Abnormal muscle tone	348180	CTU2	OMIM:618142
HP:0003808	Abnormal muscle tone	94005	PIGS	OMIM:618143
HP:0003808	Abnormal muscle tone	2077	ERF	OMIM:617180
HP:0003808	Abnormal muscle tone	90522	YIF1B	OMIM:619125
HP:0003808	Abnormal muscle tone	5058	PAK1	OMIM:618158
HP:0003808	Abnormal muscle tone	22983	MAST1	OMIM:618273
HP:0003808	Abnormal muscle tone	7050	TGIF1	ORPHA:280195
HP:0003808	Abnormal muscle tone	4838	NODAL	ORPHA:280195
HP:0003808	Abnormal muscle tone	6469	SHH	ORPHA:280195
HP:0003808	Abnormal muscle tone	7546	ZIC2	ORPHA:280195
HP:0003808	Abnormal muscle tone	6491	STIL	ORPHA:280195
HP:0003808	Abnormal muscle tone	2619	GAS1	ORPHA:280195
HP:0003808	Abnormal muscle tone	84976	DISP1	ORPHA:280195
HP:0003808	Abnormal muscle tone	2736	GLI2	ORPHA:280195
HP:0003808	Abnormal muscle tone	8928	FOXH1	ORPHA:280195
HP:0003808	Abnormal muscle tone	50937	CDON	ORPHA:280195
HP:0003808	Abnormal muscle tone	79143	MBOAT7	OMIM:617188
HP:0003808	Abnormal muscle tone	2193	FARSA	OMIM:619013
HP:0003808	Abnormal muscle tone	89970	RSPRY1	ORPHA:457395
HP:0003808	Abnormal muscle tone	89970	RSPRY1	OMIM:616723
HP:0003808	Abnormal muscle tone	2733	GLE1	OMIM:611890
HP:0003808	Abnormal muscle tone	10020	GNE	ORPHA:3166
HP:0003808	Abnormal muscle tone	8139	GAN	ORPHA:643
HP:0003808	Abnormal muscle tone	11011	TLK2	OMIM:618050
HP:0003808	Abnormal muscle tone	2316	FLNA	ORPHA:555877
HP:0003808	Abnormal muscle tone	11342	RNF13	ORPHA:544503
HP:0003808	Abnormal muscle tone	871	SERPINH1	OMIM:613848
HP:0003808	Abnormal muscle tone	6095	RORA	OMIM:618060
HP:0003808	Abnormal muscle tone	10046	MAMLD1	ORPHA:456328
HP:0003808	Abnormal muscle tone	80308	FLAD1	OMIM:255100
HP:0003808	Abnormal muscle tone	1291	COL6A1	ORPHA:75840
HP:0003808	Abnormal muscle tone	1292	COL6A2	ORPHA:75840
HP:0003808	Abnormal muscle tone	1293	COL6A3	ORPHA:75840
HP:0003808	Abnormal muscle tone	2617	GARS1	OMIM:619042
HP:0003808	Abnormal muscle tone	6341	SCO1	OMIM:619048
HP:0003808	Abnormal muscle tone	1352	COX10	OMIM:619046
HP:0003808	Abnormal muscle tone	1763	DNA2	ORPHA:352470
HP:0003808	Abnormal muscle tone	1340	COX6B1	OMIM:619051
HP:0003808	Abnormal muscle tone	1185	CLCN6	OMIM:619173
HP:0003808	Abnormal muscle tone	84665	MYPN	ORPHA:171881
HP:0003808	Abnormal muscle tone	84665	MYPN	ORPHA:171439
HP:0003808	Abnormal muscle tone	9739	SETD1A	OMIM:619056
HP:0003808	Abnormal muscle tone	80204	FBXO11	OMIM:618089
HP:0003808	Abnormal muscle tone	8792	TNFRSF11A	OMIM:612301
HP:0003808	Abnormal muscle tone	10716	TBR1	OMIM:606053
HP:0003808	Abnormal muscle tone	1339	COX6A2	OMIM:619062
HP:0003808	Abnormal muscle tone	1327	COX4I1	OMIM:619060
HP:0003808	Abnormal muscle tone	26053	AUTS2	ORPHA:352490
HP:0003808	Abnormal muscle tone	26053	AUTS2	OMIM:615834
HP:0003808	Abnormal muscle tone	1906	EDN1	ORPHA:137888
HP:0003808	Abnormal muscle tone	2773	GNAI3	ORPHA:137888
HP:0003808	Abnormal muscle tone	53834	FGFRL1	OMIM:194190
HP:0003808	Abnormal muscle tone	2615	LRRC32	OMIM:619074
HP:0003808	Abnormal muscle tone	4953	ODC1	OMIM:619075
HP:0003808	Abnormal muscle tone	10290	SPEG	OMIM:615959
HP:0003808	Abnormal muscle tone	10290	SPEG	ORPHA:169186
HP:0003808	Abnormal muscle tone	90624	LYRM7	OMIM:615838
HP:0003808	Abnormal muscle tone	6558	SLC12A2	OMIM:619083
HP:0003808	Abnormal muscle tone	6558	SLC12A2	OMIM:619080
HP:0003808	Abnormal muscle tone	25814	ATXN10	ORPHA:98761
HP:0003808	Abnormal muscle tone	64419	MTMR14	OMIM:160150
HP:0003808	Abnormal muscle tone	64419	MTMR14	ORPHA:169189
HP:0003808	Abnormal muscle tone	5594	MAPK1	OMIM:619087
HP:0003808	Abnormal muscle tone	5340	PLG	OMIM:217090
HP:0003808	Abnormal muscle tone	25828	TXN2	OMIM:616811
HP:0003808	Abnormal muscle tone	5092	PCBD1	OMIM:264070
HP:0003808	Abnormal muscle tone	4677	NARS1	OMIM:619091
HP:0003808	Abnormal muscle tone	4677	NARS1	OMIM:619092
HP:0003808	Abnormal muscle tone	9147	NEMF	OMIM:619099
HP:0003808	Abnormal muscle tone	10735	STAG2	ORPHA:521258
HP:0003808	Abnormal muscle tone	10735	STAG2	OMIM:301022
HP:0003808	Abnormal muscle tone	644096	SDHAF1	ORPHA:3208
HP:0003808	Abnormal muscle tone	9928	KIF14	OMIM:617914
HP:0003808	Abnormal muscle tone	390594	KBTBD13	ORPHA:171439
HP:0003808	Abnormal muscle tone	147007	TMEM199	OMIM:616829
HP:0003808	Abnormal muscle tone	51322	WAC	OMIM:616708
HP:0003808	Abnormal muscle tone	84317	CCDC115	OMIM:616828
HP:0003808	Abnormal muscle tone	28962	OSTM1	OMIM:259720
HP:0003808	Abnormal muscle tone	196528	ARID2	OMIM:617808
HP:0003808	Abnormal muscle tone	10075	HUWE1	OMIM:309590
HP:0003808	Abnormal muscle tone	274	BIN1	ORPHA:169186
HP:0003808	Abnormal muscle tone	274	BIN1	ORPHA:169189
HP:0003808	Abnormal muscle tone	9698	PUM1	OMIM:617931
HP:0003808	Abnormal muscle tone	53616	ADAM22	OMIM:617933
HP:0003808	Abnormal muscle tone	85358	SHANK3	OMIM:606232
HP:0003808	Abnormal muscle tone	26115	TANC2	OMIM:618906
HP:0003808	Abnormal muscle tone	4618	MYF6	ORPHA:169189
HP:0003808	Abnormal muscle tone	84162	BLTP1	OMIM:617822
HP:0003808	Abnormal muscle tone	23291	FBXW11	OMIM:618914
HP:0003808	Abnormal muscle tone	998	CDC42	OMIM:616737
HP:0003808	Abnormal muscle tone	64221	ROBO3	OMIM:607313
HP:0003808	Abnormal muscle tone	6606	SMN1	OMIM:253300
HP:0003808	Abnormal muscle tone	10943	MSL3	OMIM:301032
HP:0003808	Abnormal muscle tone	57511	COG6	OMIM:614576
HP:0003808	Abnormal muscle tone	23065	EMC1	OMIM:616875
HP:0003808	Abnormal muscle tone	128989	TANGO2	OMIM:616878
HP:0003808	Abnormal muscle tone	2464	FRA16E	OMIM:136570
HP:0003808	Abnormal muscle tone	1859	DYRK1A	OMIM:614104
HP:0003808	Abnormal muscle tone	23443	SLC35A3	OMIM:615553
HP:0003808	Abnormal muscle tone	29957	SLC25A24	OMIM:612289
HP:0003808	Abnormal muscle tone	64857	PLEKHG2	OMIM:616763
HP:0003808	Abnormal muscle tone	8936	WASF1	OMIM:618707
HP:0003808	Abnormal muscle tone	55617	TASP1	OMIM:618950
HP:0003808	Abnormal muscle tone	28957	MRPS28	OMIM:618958
HP:0003808	Abnormal muscle tone	54802	TRIT1	OMIM:617873
HP:0003808	Abnormal muscle tone	51780	KDM3B	OMIM:618846
HP:0003808	Abnormal muscle tone	51317	PHF21A	OMIM:618725
HP:0003808	Abnormal muscle tone	5455	POU3F3	OMIM:618604
HP:0003808	Abnormal muscle tone	2186	BPTF	OMIM:617755
HP:0003808	Abnormal muscle tone	738	VPS51	OMIM:618606
HP:0003808	Abnormal muscle tone	84700	MYO18B	OMIM:616549
HP:0003808	Abnormal muscle tone	5430	POLR2A	OMIM:618603
HP:0003808	Abnormal muscle tone	1585	CYP11B2	ORPHA:556030
HP:0003808	Abnormal muscle tone	4848	CNOT2	OMIM:618608
HP:0003808	Abnormal muscle tone	1468	SLC25A10	OMIM:618972
HP:0003808	Abnormal muscle tone	5087	PBX1	OMIM:617641
HP:0003808	Abnormal muscle tone	115286	SLC25A26	OMIM:616794
HP:0003808	Abnormal muscle tone	4858	NOVA2	OMIM:618859
HP:0003808	Abnormal muscle tone	529	ATP6V1E1	OMIM:617402
HP:0003808	Abnormal muscle tone	25871	NEPRO	OMIM:618853
HP:0003808	Abnormal muscle tone	1460	CSNK2B	OMIM:618732
HP:0003808	Abnormal muscle tone	4654	MYOD1	OMIM:618975
HP:0003808	Abnormal muscle tone	8449	DHX16	OMIM:618733
HP:0003808	Abnormal muscle tone	22868	FASTKD2	OMIM:618855
HP:0003808	Abnormal muscle tone	58499	ZNF462	OMIM:618619
HP:0003808	Abnormal muscle tone	25970	SH2B1	ORPHA:261222
HP:0003808	Abnormal muscle tone	3508	IGHMBP2	OMIM:604320
HP:0003808	Abnormal muscle tone	51021	MRPS16	OMIM:610498
HP:0003808	Abnormal muscle tone	2627	GATA6	ORPHA:2255
HP:0003808	Abnormal muscle tone	375748	ERCC6L2	OMIM:615715
HP:0003808	Abnormal muscle tone	11107	PRDM5	ORPHA:90354
HP:0003808	Abnormal muscle tone	84627	ZNF469	ORPHA:90354
HP:0003808	Abnormal muscle tone	54916	TMEM260	OMIM:617478
HP:0003808	Abnormal muscle tone	6927	HNF1A	ORPHA:324575
HP:0003808	Abnormal muscle tone	6878	TAF6	OMIM:617126
HP:0003808	Abnormal muscle tone	79912	PYROXD1	OMIM:617258
HP:0003808	Abnormal muscle tone	51807	TUBA8	ORPHA:250972
HP:0003808	Abnormal muscle tone	203547	VMA21	OMIM:310440
HP:0003808	Abnormal muscle tone	5575	PRKAR1B	OMIM:619680
HP:0003808	Abnormal muscle tone	7707	ZNF148	OMIM:617260
HP:0003808	Abnormal muscle tone	5934	RBL2	OMIM:619690
HP:0003808	Abnormal muscle tone	3172	HNF4A	ORPHA:263455
HP:0003808	Abnormal muscle tone	5144	PDE4D	ORPHA:439822
HP:0003808	Abnormal muscle tone	23040	MYT1L	OMIM:616521
HP:0003808	Abnormal muscle tone	8087	FXR1	OMIM:618822
HP:0003808	Abnormal muscle tone	8087	FXR1	OMIM:618823
HP:0003808	Abnormal muscle tone	5293	PIK3CD	ORPHA:221139
HP:0003808	Abnormal muscle tone	90417	KNSTRN	ORPHA:221139
HP:0003808	Abnormal muscle tone	10283	CWC27	ORPHA:166035
HP:0003808	Abnormal muscle tone	5331	PLCB3	OMIM:618961
HP:0003808	Abnormal muscle tone	7138	TNNT1	ORPHA:98902
HP:0003808	Abnormal muscle tone	29928	TIMM22	OMIM:618851
HP:0003808	Abnormal muscle tone	57728	WDR19	OMIM:614378
HP:0003808	Abnormal muscle tone	4524	MTHFR	ORPHA:395
HP:0003808	Abnormal muscle tone	81790	RNF170	OMIM:619686
HP:0003808	Abnormal muscle tone	6647	SOD1	OMIM:618598
HP:0003808	Abnormal muscle tone	5917	RARS1	ORPHA:438114
HP:0003808	Abnormal muscle tone	5917	RARS1	OMIM:616140
HP:0003808	Abnormal muscle tone	3897	L1CAM	OMIM:303350
HP:0003808	Abnormal muscle tone	84340	GFM2	ORPHA:565624
HP:0003808	Abnormal muscle tone	10342	TFG	OMIM:615658
HP:0003808	Abnormal muscle tone	85465	SELENOI	OMIM:618768
HP:0003808	Abnormal muscle tone	823	CAPN1	OMIM:616907
HP:0003808	Abnormal muscle tone	823	CAPN1	ORPHA:488594
HP:0003808	Abnormal muscle tone	79152	FA2H	OMIM:612319
HP:0003808	Abnormal muscle tone	79152	FA2H	ORPHA:171629
HP:0003808	Abnormal muscle tone	51501	HIKESHI	OMIM:616881
HP:0003808	Abnormal muscle tone	9289	ADGRG1	ORPHA:98889
HP:0003808	Abnormal muscle tone	5297	PI4KA	ORPHA:98889
HP:0003808	Abnormal muscle tone	27286	SRPX2	ORPHA:98889
HP:0003808	Abnormal muscle tone	57459	GATAD2B	ORPHA:363686
HP:0003808	Abnormal muscle tone	2521	FUS	ORPHA:300605
HP:0003808	Abnormal muscle tone	10280	SIGMAR1	ORPHA:300605
HP:0003808	Abnormal muscle tone	10280	SIGMAR1	OMIM:614373
HP:0003808	Abnormal muscle tone	10558	SPTLC1	ORPHA:300605
HP:0003808	Abnormal muscle tone	1615	DARS1	OMIM:615281
HP:0003808	Abnormal muscle tone	339855	KY	ORPHA:496689
HP:0003808	Abnormal muscle tone	131118	DNAJC19	ORPHA:66634
HP:0003808	Abnormal muscle tone	200403	VWA3B	OMIM:616948
HP:0003808	Abnormal muscle tone	84274	COQ5	OMIM:619028
HP:0003808	Abnormal muscle tone	291	SLC25A4	ORPHA:254892
HP:0003808	Abnormal muscle tone	3064	HTT	ORPHA:399
HP:0003808	Abnormal muscle tone	3064	HTT	OMIM:143100
HP:0003808	Abnormal muscle tone	3064	HTT	ORPHA:248111
HP:0003808	Abnormal muscle tone	6515	SLC2A3	ORPHA:399
HP:0003808	Abnormal muscle tone	51062	ATL1	ORPHA:100984
HP:0003808	Abnormal muscle tone	26058	GIGYF2	OMIM:607688
HP:0003808	Abnormal muscle tone	26058	GIGYF2	ORPHA:411602
HP:0003808	Abnormal muscle tone	4287	ATXN3	OMIM:109150
HP:0003808	Abnormal muscle tone	7384	UQCRC1	OMIM:619279
HP:0003808	Abnormal muscle tone	55532	SLC30A10	ORPHA:309854
HP:0003808	Abnormal muscle tone	55532	SLC30A10	OMIM:613280
HP:0003808	Abnormal muscle tone	4311	MME	OMIM:617018
HP:0003808	Abnormal muscle tone	54832	VPS13C	OMIM:616840
HP:0003808	Abnormal muscle tone	54832	VPS13C	ORPHA:2828
HP:0003808	Abnormal muscle tone	1119	CHKA	OMIM:620023
HP:0003808	Abnormal muscle tone	57165	GJC2	OMIM:608804
HP:0003808	Abnormal muscle tone	4016	LOXL1	OMIM:177650
HP:0003808	Abnormal muscle tone	1436	CSF1R	OMIM:618476
HP:0003808	Abnormal muscle tone	1436	CSF1R	OMIM:221820
HP:0003808	Abnormal muscle tone	51741	WWOX	OMIM:616211
HP:0003808	Abnormal muscle tone	51741	WWOX	ORPHA:442835
HP:0003808	Abnormal muscle tone	80347	COASY	OMIM:615643
HP:0003808	Abnormal muscle tone	10501	SEMA6B	OMIM:618876
HP:0003808	Abnormal muscle tone	3939	LDHA	OMIM:612933
HP:0003808	Abnormal muscle tone	11152	WDR45	ORPHA:329284
HP:0003808	Abnormal muscle tone	11152	WDR45	OMIM:300894
HP:0003808	Abnormal muscle tone	9829	DNAJC6	OMIM:615528
HP:0003808	Abnormal muscle tone	9829	DNAJC6	ORPHA:2828
HP:0003808	Abnormal muscle tone	9829	DNAJC6	ORPHA:391411
HP:0003808	Abnormal muscle tone	1410	CRYAB	OMIM:613869
HP:0003808	Abnormal muscle tone	100996717	NOTCH2NLC	OMIM:603472
HP:0003808	Abnormal muscle tone	23400	ATP13A2	ORPHA:314632
HP:0003808	Abnormal muscle tone	23400	ATP13A2	OMIM:606693
HP:0003808	Abnormal muscle tone	23400	ATP13A2	ORPHA:306674
HP:0003808	Abnormal muscle tone	5071	PRKN	OMIM:600116
HP:0003808	Abnormal muscle tone	5071	PRKN	ORPHA:2828
HP:0003808	Abnormal muscle tone	103	ADAR	OMIM:615010
HP:0003808	Abnormal muscle tone	103	ADAR	ORPHA:225154
HP:0003808	Abnormal muscle tone	7343	UBTF	OMIM:617672
HP:0003808	Abnormal muscle tone	55037	PTCD3	OMIM:619057
HP:0003808	Abnormal muscle tone	55737	VPS35	OMIM:614203
HP:0003808	Abnormal muscle tone	55737	VPS35	ORPHA:411602
HP:0003808	Abnormal muscle tone	8622	PDE8B	OMIM:609161
HP:0003808	Abnormal muscle tone	8622	PDE8B	ORPHA:228169
HP:0003808	Abnormal muscle tone	79947	DHDDS	OMIM:617836
HP:0003808	Abnormal muscle tone	79947	DHDDS	ORPHA:442835
HP:0003808	Abnormal muscle tone	23317	DNAJC13	ORPHA:411602
HP:0003808	Abnormal muscle tone	1981	EIF4G1	ORPHA:411602
HP:0003808	Abnormal muscle tone	1981	EIF4G1	OMIM:614251
HP:0003808	Abnormal muscle tone	120892	LRRK2	ORPHA:411602
HP:0003808	Abnormal muscle tone	120892	LRRK2	ORPHA:2828
HP:0003808	Abnormal muscle tone	120892	LRRK2	OMIM:607060
HP:0003808	Abnormal muscle tone	6622	SNCA	ORPHA:411602
HP:0003808	Abnormal muscle tone	6622	SNCA	ORPHA:2828
HP:0003808	Abnormal muscle tone	6622	SNCA	ORPHA:171695
HP:0003808	Abnormal muscle tone	6622	SNCA	OMIM:168601
HP:0003808	Abnormal muscle tone	6575	SLC20A2	OMIM:213600
HP:0003808	Abnormal muscle tone	5155	PDGFB	OMIM:213600
HP:0003808	Abnormal muscle tone	5159	PDGFRB	OMIM:213600
HP:0003808	Abnormal muscle tone	1509	CTSD	OMIM:610127
HP:0003808	Abnormal muscle tone	116442	RAB39B	OMIM:311510
HP:0003808	Abnormal muscle tone	116442	RAB39B	ORPHA:2379
HP:0003808	Abnormal muscle tone	11315	PARK7	OMIM:606324
HP:0003808	Abnormal muscle tone	11315	PARK7	ORPHA:2828
HP:0003808	Abnormal muscle tone	5903	RANBP2	ORPHA:88619
HP:0003808	Abnormal muscle tone	2743	GLRB	ORPHA:3197
HP:0003808	Abnormal muscle tone	2741	GLRA1	ORPHA:3197
HP:0003808	Abnormal muscle tone	10243	GPHN	ORPHA:3197
HP:0003808	Abnormal muscle tone	84896	ATAD1	ORPHA:3197
HP:0003808	Abnormal muscle tone	9152	SLC6A5	ORPHA:3197
HP:0003808	Abnormal muscle tone	80821	DDHD1	ORPHA:101008
HP:0003808	Abnormal muscle tone	7345	UCHL1	OMIM:613643
HP:0003808	Abnormal muscle tone	7345	UCHL1	ORPHA:2828
HP:0003808	Abnormal muscle tone	5420	PODXL	ORPHA:2828
HP:0003808	Abnormal muscle tone	5420	PODXL	ORPHA:391411
HP:0003808	Abnormal muscle tone	65018	PINK1	ORPHA:2828
HP:0003808	Abnormal muscle tone	65018	PINK1	OMIM:605909
HP:0003808	Abnormal muscle tone	8120	AP3B2	ORPHA:442835
HP:0003808	Abnormal muscle tone	10991	SLC38A3	ORPHA:442835
HP:0003808	Abnormal muscle tone	22906	TRAK1	ORPHA:442835
HP:0003808	Abnormal muscle tone	2561	GABRB2	ORPHA:442835
HP:0003808	Abnormal muscle tone	79876	UBA5	ORPHA:442835
HP:0003808	Abnormal muscle tone	2558	GABRA5	ORPHA:442835
HP:0003808	Abnormal muscle tone	2906	GRIN2D	ORPHA:442835
HP:0003808	Abnormal muscle tone	116150	NUS1	ORPHA:442835
HP:0003808	Abnormal muscle tone	6506	SLC1A2	ORPHA:442835
HP:0003808	Abnormal muscle tone	284111	SLC13A5	ORPHA:442835
HP:0003808	Abnormal muscle tone	25977	NECAP1	ORPHA:442835
HP:0003808	Abnormal muscle tone	16	AARS1	ORPHA:442835
HP:0003808	Abnormal muscle tone	16	AARS1	OMIM:619661
HP:0003808	Abnormal muscle tone	22866	CNKSR2	ORPHA:442835
HP:0003808	Abnormal muscle tone	55152	DALRD3	ORPHA:442835
HP:0003808	Abnormal muscle tone	26999	CYFIP2	ORPHA:442835
HP:0003808	Abnormal muscle tone	25973	PARS2	ORPHA:442835
HP:0003808	Abnormal muscle tone	23097	CDK19	ORPHA:442835
HP:0003808	Abnormal muscle tone	64801	ARV1	ORPHA:442835
HP:0003808	Abnormal muscle tone	6908	TBP	OMIM:607136
HP:0003808	Abnormal muscle tone	6908	TBP	ORPHA:98759
HP:0003808	Abnormal muscle tone	6908	TBP	OMIM:168600
HP:0003808	Abnormal muscle tone	112476	PRRT2	ORPHA:98810
HP:0003808	Abnormal muscle tone	25953	PNKD	ORPHA:98810
HP:0003808	Abnormal muscle tone	57338	JPH3	OMIM:606438
HP:0003808	Abnormal muscle tone	5654	HTRA1	ORPHA:199354
HP:0003808	Abnormal muscle tone	5654	HTRA1	OMIM:600142
HP:0003808	Abnormal muscle tone	339453	TMEM240	ORPHA:98773
HP:0003808	Abnormal muscle tone	26154	ABCA12	OMIM:242500
HP:0003808	Abnormal muscle tone	2512	FTL	OMIM:606159
HP:0003808	Abnormal muscle tone	23259	DDHD2	OMIM:615033
HP:0003808	Abnormal muscle tone	58494	JAM2	OMIM:618824
HP:0003808	Abnormal muscle tone	4929	NR4A2	ORPHA:98808
HP:0003808	Abnormal muscle tone	4929	NR4A2	OMIM:619911
HP:0003808	Abnormal muscle tone	4929	NR4A2	OMIM:168600
HP:0003808	Abnormal muscle tone	3615	IMPDH2	ORPHA:98808
HP:0003808	Abnormal muscle tone	6531	SLC6A3	OMIM:613135
HP:0003808	Abnormal muscle tone	2554	GABRA1	ORPHA:33069
HP:0003808	Abnormal muscle tone	57526	PCDH19	ORPHA:33069
HP:0003808	Abnormal muscle tone	5582	PRKCG	ORPHA:98763
HP:0003808	Abnormal muscle tone	80025	PANK2	OMIM:234200
HP:0003808	Abnormal muscle tone	80025	PANK2	ORPHA:216873
HP:0003808	Abnormal muscle tone	6697	SPR	ORPHA:70594
HP:0003808	Abnormal muscle tone	1718	DHCR24	ORPHA:35107
HP:0003808	Abnormal muscle tone	1356	CP	ORPHA:48818
HP:0003808	Abnormal muscle tone	540	ATP7B	OMIM:277900
HP:0003808	Abnormal muscle tone	25978	CHMP2B	OMIM:600795
HP:0003808	Abnormal muscle tone	4508	MT-ATP6	ORPHA:225154
HP:0003808	Abnormal muscle tone	23636	NUP62	ORPHA:225154
HP:0003808	Abnormal muscle tone	10273	STUB1	ORPHA:412057
HP:0003808	Abnormal muscle tone	51308	REEP2	ORPHA:401849
HP:0003808	Abnormal muscle tone	10159	ATP6AP2	OMIM:300423
HP:0003808	Abnormal muscle tone	25793	FBXO7	ORPHA:171695
HP:0003808	Abnormal muscle tone	25793	FBXO7	OMIM:260300
HP:0003808	Abnormal muscle tone	51142	CHCHD2	OMIM:616710
HP:0003808	Abnormal muscle tone	221927	BRAT1	OMIM:614498
HP:0003808	Abnormal muscle tone	9445	ITM2B	OMIM:176500
HP:0003808	Abnormal muscle tone	2747	GLUD2	OMIM:168600
HP:0003808	Abnormal muscle tone	126	ADH1C	OMIM:168600
HP:0003808	Abnormal muscle tone	4576	MT-TT	OMIM:168600
HP:0003808	Abnormal muscle tone	9627	SNCAIP	OMIM:168600
HP:0003808	Abnormal muscle tone	1639	DCTN1	OMIM:168605
HP:0003808	Abnormal muscle tone	3736	KCNA1	OMIM:160120
HP:0003808	Abnormal muscle tone	3736	KCNA1	ORPHA:972
HP:0003808	Abnormal muscle tone	324	APC	ORPHA:261584
HP:0003808	Abnormal muscle tone	123606	NIPA1	OMIM:600363
HP:0003808	Abnormal muscle tone	57156	TMEM63C	OMIM:619966
HP:0003808	Abnormal muscle tone	215	ABCD1	ORPHA:139399
HP:0003808	Abnormal muscle tone	118813	ZFYVE27	OMIM:610244
HP:0003808	Abnormal muscle tone	25778	DSTYK	ORPHA:101003
HP:0003808	Abnormal muscle tone	9420	CYP7B1	OMIM:270800
HP:0003808	Abnormal muscle tone	57599	WDR48	ORPHA:401800
HP:0003808	Abnormal muscle tone	55703	POLR3B	OMIM:619742
HP:0003808	Abnormal muscle tone	9907	AP5Z1	OMIM:613647
HP:0003808	Abnormal muscle tone	9907	AP5Z1	ORPHA:306511
HP:0003808	Abnormal muscle tone	340075	ARSI	ORPHA:401815
HP:0003808	Abnormal muscle tone	57498	KIDINS220	OMIM:617296
HP:0003808	Abnormal muscle tone	10613	ERLIN1	ORPHA:401785
HP:0003808	Abnormal muscle tone	10613	ERLIN1	OMIM:615681
HP:0003808	Abnormal muscle tone	23503	ZFYVE26	OMIM:270700
HP:0003808	Abnormal muscle tone	22978	NT5C2	ORPHA:320396
HP:0003808	Abnormal muscle tone	22978	NT5C2	OMIM:613162
HP:0003808	Abnormal muscle tone	6472	SHMT2	OMIM:619121
HP:0003808	Abnormal muscle tone	6253	RTN2	OMIM:604805
HP:0003808	Abnormal muscle tone	6253	RTN2	ORPHA:100993
HP:0003808	Abnormal muscle tone	26278	SACS	OMIM:270550
HP:0003808	Abnormal muscle tone	80208	SPG11	OMIM:604360
HP:0003808	Abnormal muscle tone	9101	USP8	ORPHA:401795
HP:0003808	Abnormal muscle tone	8913	CACNA1G	ORPHA:458803
HP:0003808	Abnormal muscle tone	8913	CACNA1G	OMIM:616795
HP:0003808	Abnormal muscle tone	3739	KCNA4	OMIM:618284
HP:0003808	Abnormal muscle tone	383	ARG1	OMIM:207800
HP:0003808	Abnormal muscle tone	7415	VCP	ORPHA:329475
HP:0003808	Abnormal muscle tone	6683	SPAST	OMIM:182601
HP:0003808	Abnormal muscle tone	26580	BSCL2	OMIM:270685
HP:0003808	Abnormal muscle tone	26580	BSCL2	ORPHA:100998
HP:0003808	Abnormal muscle tone	51663	ZFR	ORPHA:401840
HP:0003808	Abnormal muscle tone	51271	UBAP1	ORPHA:100993
HP:0003808	Abnormal muscle tone	126129	CPT1C	ORPHA:444099
HP:0003808	Abnormal muscle tone	3839	KPNA3	ORPHA:171612
HP:0003808	Abnormal muscle tone	113612	CYP2U1	ORPHA:320411
HP:0003808	Abnormal muscle tone	22948	CCT5	OMIM:256840
HP:0003808	Abnormal muscle tone	2583	B4GALNT1	OMIM:609195
HP:0003808	Abnormal muscle tone	4001	LMNB1	ORPHA:99027
HP:0003808	Abnormal muscle tone	55610	VPS50	OMIM:619685
HP:0003808	Abnormal muscle tone	129685	TAF8	OMIM:619972
HP:0003808	Abnormal muscle tone	4976	OPA1	OMIM:210000
HP:0003808	Abnormal muscle tone	54902	TTC19	OMIM:615157
HP:0003808	Abnormal muscle tone	440193	CCDC88C	OMIM:616053
HP:0003808	Abnormal muscle tone	440193	CCDC88C	ORPHA:423275
HP:0003808	Abnormal muscle tone	93587	TRMT10A	ORPHA:391408
HP:0003808	Abnormal muscle tone	3752	KCND3	ORPHA:98772
HP:0003808	Abnormal muscle tone	3752	KCND3	OMIM:607346
HP:0003808	Abnormal muscle tone	1600	DAB1	ORPHA:363710
HP:0003808	Abnormal muscle tone	3781	KCNN2	OMIM:619725
HP:0003808	Abnormal muscle tone	25782	RAB3GAP2	ORPHA:401830
HP:0003808	Abnormal muscle tone	5621	PRNP	ORPHA:282166
HP:0003808	Abnormal muscle tone	10717	AP4B1	ORPHA:280763
HP:0003808	Abnormal muscle tone	9179	AP4M1	ORPHA:280763
HP:0003808	Abnormal muscle tone	11154	AP4S1	ORPHA:280763
HP:0003808	Abnormal muscle tone	23431	AP4E1	ORPHA:280763
HP:0003808	Abnormal muscle tone	87178	PNPT1	ORPHA:101111
HP:0003808	Abnormal muscle tone	4099	MAG	OMIM:616680
HP:0003808	Abnormal muscle tone	57679	ALS2	OMIM:205100
HP:0003808	Abnormal muscle tone	57679	ALS2	OMIM:606353
HP:0003808	Abnormal muscle tone	57679	ALS2	ORPHA:247604
HP:0003808	Abnormal muscle tone	4137	MAPT	ORPHA:240094
HP:0003808	Abnormal muscle tone	57704	GBA2	ORPHA:352641
HP:0003808	Abnormal muscle tone	57704	GBA2	ORPHA:320391
HP:0003808	Abnormal muscle tone	55775	TDP1	ORPHA:94124
HP:0003808	Abnormal muscle tone	5190	PEX6	ORPHA:95433
HP:0003808	Abnormal muscle tone	92935	MARS2	ORPHA:314603
HP:0003808	Abnormal muscle tone	5832	ALDH18A1	ORPHA:447757
HP:0003808	Abnormal muscle tone	5832	ALDH18A1	ORPHA:447753
HP:0003808	Abnormal muscle tone	11160	ERLIN2	ORPHA:247604
HP:0003808	Abnormal muscle tone	10939	AFG3L2	ORPHA:313772
HP:0003808	Abnormal muscle tone	6843	VAMP1	ORPHA:251282
HP:0003808	Abnormal muscle tone	84188	FAR1	ORPHA:447753
HP:0003808	Abnormal muscle tone	11128	POLR3A	ORPHA:447896
HP:0003808	Abnormal muscle tone	724066	ATXN8	ORPHA:98760
HP:0003808	Abnormal muscle tone	6315	ATXN8OS	ORPHA:98760
HP:0003808	Abnormal muscle tone	23111	SPART	ORPHA:101000
HP:0003808	Abnormal muscle tone	51218	GLRX5	ORPHA:401866
HP:0003808	Abnormal muscle tone	6687	SPG7	ORPHA:35689
HP:0003808	Abnormal muscle tone	2705	GJB1	ORPHA:1175
HP:0003808	Abnormal muscle tone	492	ATP2B3	ORPHA:314978
HP:0003808	Abnormal muscle tone	3098	HK1	OMIM:618547
HP:0003808	Abnormal muscle tone	80222	TARS2	OMIM:615918
HP:0003808	Abnormal muscle tone	2972	BRF1	ORPHA:444072
HP:0003808	Abnormal muscle tone	10300	KATNB1	OMIM:616212
HP:0003808	Abnormal muscle tone	51506	UFC1	OMIM:618076
HP:0003808	Abnormal muscle tone	23310	NCAPD3	OMIM:617984
HP:0003808	Abnormal muscle tone	1644	DDC	OMIM:608643
HP:0003808	Abnormal muscle tone	55691	FRMD4A	ORPHA:466688
HP:0003808	Abnormal muscle tone	25839	COG4	ORPHA:263501
HP:0003808	Abnormal muscle tone	25839	COG4	OMIM:613489
HP:0003808	Abnormal muscle tone	4718	NDUFC2	OMIM:619170
HP:0003808	Abnormal muscle tone	51227	PIGP	OMIM:617599
HP:0003808	Abnormal muscle tone	2917	GRM7	OMIM:618922
HP:0003808	Abnormal muscle tone	5095	PCCA	OMIM:606054
HP:0003808	Abnormal muscle tone	5096	PCCB	OMIM:606054
HP:0003808	Abnormal muscle tone	23141	ANKLE2	OMIM:616681
HP:0003808	Abnormal muscle tone	776	CACNA1D	OMIM:615474
HP:0003808	Abnormal muscle tone	1193	CLIC2	OMIM:300886
HP:0003808	Abnormal muscle tone	1193	CLIC2	ORPHA:324410
HP:0003808	Abnormal muscle tone	6567	SLC16A2	OMIM:300523
HP:0003808	Abnormal muscle tone	6567	SLC16A2	ORPHA:59
HP:0003808	Abnormal muscle tone	535	ATP6V0A1	OMIM:619971
HP:0003808	Abnormal muscle tone	7283	TUBG1	OMIM:615412
HP:0003808	Abnormal muscle tone	3796	KIF2A	OMIM:615411
HP:0003808	Abnormal muscle tone	170825	GSX2	OMIM:618646
HP:0003808	Abnormal muscle tone	8560	DEGS1	OMIM:618404
HP:0003808	Abnormal muscle tone	549	AUH	OMIM:250950
HP:0003808	Abnormal muscle tone	23258	DENND5A	OMIM:617281
HP:0003808	Abnormal muscle tone	22872	SEC31A	OMIM:618651
HP:0003808	Abnormal muscle tone	6785	ELOVL4	OMIM:614457
HP:0003808	Abnormal muscle tone	26227	PHGDH	ORPHA:79351
HP:0003808	Abnormal muscle tone	26227	PHGDH	OMIM:601815
HP:0003808	Abnormal muscle tone	1267	CNP	OMIM:619071
HP:0003808	Abnormal muscle tone	56978	PRDM8	OMIM:616640
HP:0003808	Abnormal muscle tone	4337	MOCS1	OMIM:252150
HP:0003808	Abnormal muscle tone	1528	CYB5A	ORPHA:621
HP:0003808	Abnormal muscle tone	1727	CYB5R3	ORPHA:621
HP:0003808	Abnormal muscle tone	5700	PSMC1	OMIM:620071
HP:0003808	Abnormal muscle tone	3800	KIF5C	OMIM:615282
HP:0003808	Abnormal muscle tone	2893	GRIA4	OMIM:617864
HP:0003808	Abnormal muscle tone	55739	NAXD	OMIM:618321
HP:0003808	Abnormal muscle tone	440	ASNS	OMIM:615574
HP:0003808	Abnormal muscle tone	777	CACNA1E	OMIM:618285
HP:0003808	Abnormal muscle tone	1284	COL4A2	OMIM:614483
HP:0003808	Abnormal muscle tone	55275	VPS53	OMIM:615851
HP:0003808	Abnormal muscle tone	2806	GOT2	OMIM:618721
HP:0003808	Abnormal muscle tone	51294	PCDH12	OMIM:251280
HP:0003808	Abnormal muscle tone	2055	CLN8	ORPHA:1947
HP:0003808	Abnormal muscle tone	51075	TMX2	OMIM:618730
HP:0003808	Abnormal muscle tone	55770	EXOC2	OMIM:619306
HP:0003808	Abnormal muscle tone	10695	CNPY3	OMIM:617929
HP:0003808	Abnormal muscle tone	10535	RNASEH2A	ORPHA:51
HP:0003808	Abnormal muscle tone	25939	SAMHD1	ORPHA:51
HP:0003808	Abnormal muscle tone	79621	RNASEH2B	ORPHA:51
HP:0003808	Abnormal muscle tone	11277	TREX1	ORPHA:51
HP:0003808	Abnormal muscle tone	134353	LSM11	ORPHA:51
HP:0003808	Abnormal muscle tone	1103	CHAT	OMIM:254210
HP:0003808	Abnormal muscle tone	1145	CHRNE	OMIM:605809
HP:0003808	Abnormal muscle tone	4534	MTM1	ORPHA:596
HP:0003808	Abnormal muscle tone	4534	MTM1	OMIM:310400
HP:0003808	Abnormal muscle tone	199857	ALG14	OMIM:619036
HP:0003808	Abnormal muscle tone	23312	DMXL2	OMIM:618663
HP:0003808	Abnormal muscle tone	56203	LMOD3	OMIM:616165
HP:0003808	Abnormal muscle tone	56203	LMOD3	ORPHA:171430
HP:0003808	Abnormal muscle tone	3704	ITPA	OMIM:616647
HP:0003808	Abnormal muscle tone	2643	GCH1	OMIM:233910
HP:0003808	Abnormal muscle tone	136647	MPLKIP	OMIM:234050
HP:0003808	Abnormal muscle tone	8818	DPM2	OMIM:615042
HP:0003808	Abnormal muscle tone	4703	NEB	ORPHA:171433
HP:0003808	Abnormal muscle tone	4703	NEB	ORPHA:171430
HP:0003808	Abnormal muscle tone	10324	KLHL41	ORPHA:171433
HP:0003808	Abnormal muscle tone	10324	KLHL41	ORPHA:171430
HP:0003808	Abnormal muscle tone	9326	ZNHIT3	OMIM:260565
HP:0003808	Abnormal muscle tone	9326	ZNHIT3	ORPHA:2836
HP:0003808	Abnormal muscle tone	131377	KLHL40	ORPHA:171430
HP:0003808	Abnormal muscle tone	51244	CCDC174	OMIM:616816
HP:0003808	Abnormal muscle tone	55005	RMND1	OMIM:614922
HP:0003808	Abnormal muscle tone	93627	TBCK	OMIM:616900
HP:0003808	Abnormal muscle tone	93627	TBCK	ORPHA:488632
HP:0003808	Abnormal muscle tone	51008	ASCC1	OMIM:616867
HP:0003808	Abnormal muscle tone	57731	SPTBN4	OMIM:617519
HP:0003808	Abnormal muscle tone	23299	BICD2	OMIM:618291
HP:0003808	Abnormal muscle tone	55149	MTPAP	OMIM:613672
HP:0003808	Abnormal muscle tone	55149	MTPAP	ORPHA:254343
HP:0003808	Abnormal muscle tone	5010	CLDN11	OMIM:619328
HP:0003808	Abnormal muscle tone	23769	FLRT1	ORPHA:320406
HP:0003808	Abnormal muscle tone	1201	CLN3	ORPHA:228346
HP:0003808	Abnormal muscle tone	80207	OPA3	ORPHA:67036
HP:0003808	Abnormal muscle tone	3119	HLA-DQB1	OMIM:123400
HP:0003808	Abnormal muscle tone	54332	GDAP1	ORPHA:99948
HP:0003808	Abnormal muscle tone	5138	PDE2A	OMIM:619150
HP:0003808	Abnormal muscle tone	347734	SLC35B2	OMIM:620269
HP:0003808	Abnormal muscle tone	4010	LMX1B	ORPHA:495818
HP:0003808	Abnormal muscle tone	10565	ARFGEF1	OMIM:619964
HP:0003808	Abnormal muscle tone	6844	VAMP2	OMIM:618760
HP:0003808	Abnormal muscle tone	10087	CERT1	OMIM:616351
HP:0003808	Abnormal muscle tone	27089	UQCRQ	OMIM:615159
HP:0003808	Abnormal muscle tone	7701	ZNF142	OMIM:618425
HP:0003808	Abnormal muscle tone	10846	PDE10A	OMIM:616921
HP:0003808	Abnormal muscle tone	10846	PDE10A	ORPHA:494526
HP:0003808	Abnormal muscle tone	23261	CAMTA1	OMIM:614756
HP:0003808	Abnormal muscle tone	57479	PRR12	OMIM:619539
HP:0003808	Abnormal muscle tone	197322	ACSF3	ORPHA:289504
HP:0003808	Abnormal muscle tone	27247	NFU1	OMIM:605711
HP:0003808	Abnormal muscle tone	10533	ATG7	OMIM:619422
HP:0003808	Abnormal muscle tone	56160	NSMCE3	OMIM:617241
HP:0003808	Abnormal muscle tone	51025	PAM16	OMIM:613320
HP:0003808	Abnormal muscle tone	23102	TBC1D2B	OMIM:619323
HP:0003808	Abnormal muscle tone	2664	GDI1	OMIM:300849
HP:0003808	Abnormal muscle tone	1000	CDH2	OMIM:618929
HP:0003808	Abnormal muscle tone	84668	HYCC1	OMIM:610532
HP:0003808	Abnormal muscle tone	7074	TIAM1	OMIM:619908
HP:0003808	Abnormal muscle tone	3643	INSR	ORPHA:508
HP:0003808	Abnormal muscle tone	374354	NHLRC2	OMIM:618278
HP:0003808	Abnormal muscle tone	6182	MRPL12	OMIM:618951
HP:0003808	Abnormal muscle tone	5296	PIK3R2	OMIM:603387
HP:0003808	Abnormal muscle tone	6477	SIAH1	OMIM:619314
HP:0003808	Abnormal muscle tone	283120	H19	ORPHA:231144
HP:0003808	Abnormal muscle tone	1363	CPE	OMIM:619326
HP:0003808	Abnormal muscle tone	55780	ERMARD	ORPHA:75857
HP:0003808	Abnormal muscle tone	56992	KIF15	ORPHA:261323
HP:0003808	Abnormal muscle tone	84992	PIGY	ORPHA:247262
HP:0003808	Abnormal muscle tone	284098	PIGW	ORPHA:247262
HP:0003808	Abnormal muscle tone	1757	SARDH	ORPHA:3129
HP:0003808	Abnormal muscle tone	6605	SMARCE1	ORPHA:1465
HP:0003808	Abnormal muscle tone	54658	UGT1A1	ORPHA:79234
HP:0003808	Abnormal muscle tone	4094	MAF	ORPHA:1272
HP:0003808	Abnormal muscle tone	6857	SYT1	ORPHA:522077
HP:0003808	Abnormal muscle tone	57107	PDSS2	ORPHA:255249
HP:0003808	Abnormal muscle tone	8218	CLTCL1	ORPHA:453510
HP:0003808	Abnormal muscle tone	162417	NAGS	ORPHA:927
HP:0003808	Abnormal muscle tone	57194	ATP10A	ORPHA:411515
HP:0003808	Abnormal muscle tone	25914	RTTN	ORPHA:468631
HP:0003808	Abnormal muscle tone	29968	PSAT1	ORPHA:284417
HP:0003808	Abnormal muscle tone	283989	TSEN54	ORPHA:2524
HP:0003808	Abnormal muscle tone	79042	TSEN34	ORPHA:2524
HP:0003808	Abnormal muscle tone	51091	SEPSECS	ORPHA:2524
HP:0003808	Abnormal muscle tone	10352	WARS2	ORPHA:572798
HP:0003808	Abnormal muscle tone	10463	SLC30A9	OMIM:617595
HP:0003808	Abnormal muscle tone	96459	FNIP1	OMIM:619705
HP:0003808	Abnormal muscle tone	375387	NRROS	OMIM:618875
HP:0003808	Abnormal muscle tone	203190	LGI3	OMIM:620007
HP:0003808	Abnormal muscle tone	1497	CTNS	OMIM:219800
HP:0003808	Abnormal muscle tone	10157	AASS	ORPHA:2203
HP:0003808	Abnormal muscle tone	55331	ACER3	OMIM:617762
HP:0003808	Abnormal muscle tone	160418	TMTC3	OMIM:617255
HP:0003808	Abnormal muscle tone	9255	AIMP1	OMIM:260600
HP:0003808	Abnormal muscle tone	51112	TRAPPC12	OMIM:617669
HP:0003808	Abnormal muscle tone	819	CAMLG	OMIM:620201
HP:0003808	Abnormal muscle tone	84081	NSRP1	OMIM:620001
HP:0003809	Reduced intrathoracic adipose tissue	26580	BSCL2	OMIM:269700
HP:0003809	Reduced intrathoracic adipose tissue	10555	AGPAT2	OMIM:608594
HP:0003811	Neonatal death	2261	FGFR3	OMIM:187601
HP:0003811	Neonatal death	2261	FGFR3	OMIM:187600
HP:0003811	Neonatal death	2261	FGFR3	OMIM:616482
HP:0003811	Neonatal death	2294	FOXF1	OMIM:265380
HP:0003811	Neonatal death	2243	FGA	OMIM:202400
HP:0003811	Neonatal death	2244	FGB	OMIM:202400
HP:0003811	Neonatal death	2266	FGG	OMIM:202400
HP:0003811	Neonatal death	23019	CNOT1	OMIM:618500
HP:0003811	Neonatal death	8506	CNTNAP1	OMIM:618186
HP:0003811	Neonatal death	112	ADCY6	OMIM:616287
HP:0003811	Neonatal death	56203	LMOD3	OMIM:616165
HP:0003811	Neonatal death	83700	JAM3	OMIM:613730
HP:0003811	Neonatal death	8496	PPFIBP1	OMIM:620024
HP:0003811	Neonatal death	64220	STRA6	OMIM:601186
HP:0003811	Neonatal death	2629	GBA1	OMIM:608013
HP:0003811	Neonatal death	2629	GBA1	ORPHA:85212
HP:0003811	Neonatal death	80222	TARS2	OMIM:615918
HP:0003811	Neonatal death	2317	FLNB	OMIM:112310
HP:0003811	Neonatal death	2317	FLNB	OMIM:108720
HP:0003811	Neonatal death	6392	SDHD	OMIM:619167
HP:0003811	Neonatal death	4726	NDUFS6	OMIM:618232
HP:0003811	Neonatal death	29078	NDUFAF4	OMIM:618237
HP:0003811	Neonatal death	477	ATP1A2	OMIM:619602
HP:0003811	Neonatal death	5915	RARB	OMIM:615524
HP:0003811	Neonatal death	5339	PLEC	OMIM:612138
HP:0003811	Neonatal death	2733	GLE1	OMIM:253310
HP:0003811	Neonatal death	2733	GLE1	OMIM:611890
HP:0003811	Neonatal death	56975	FAM20C	OMIM:259775
HP:0003811	Neonatal death	6439	SFTPB	OMIM:265120
HP:0003811	Neonatal death	54539	NDUFB11	OMIM:301021
HP:0003811	Neonatal death	4703	NEB	OMIM:619334
HP:0003811	Neonatal death	100131801	PET100	OMIM:619055
HP:0003811	Neonatal death	1020	CDK5	OMIM:616342
HP:0003811	Neonatal death	10606	PAICS	OMIM:619859
HP:0003811	Neonatal death	439	GET3	OMIM:620203
HP:0003811	Neonatal death	1509	CTSD	OMIM:610127
HP:0003811	Neonatal death	7490	WT1	OMIM:194080
HP:0003811	Neonatal death	7490	WT1	OMIM:608978
HP:0003811	Neonatal death	21	ABCA3	OMIM:610921
HP:0003811	Neonatal death	54675	CRLS1	OMIM:620167
HP:0003811	Neonatal death	8802	SUCLG1	OMIM:245400
HP:0003811	Neonatal death	1910	EDNRB	OMIM:600501
HP:0003811	Neonatal death	54968	TMEM70	OMIM:614052
HP:0003811	Neonatal death	55210	ATAD3A	OMIM:618810
HP:0003811	Neonatal death	4338	MOCS2	OMIM:252160
HP:0003811	Neonatal death	51021	MRPS16	OMIM:610498
HP:0003811	Neonatal death	2752	GLUL	OMIM:610015
HP:0003811	Neonatal death	79053	ALG8	OMIM:608104
HP:0003811	Neonatal death	1174	AP1S1	OMIM:609313
HP:0003811	Neonatal death	2737	GLI3	OMIM:146510
HP:0003811	Neonatal death	29980	DONSON	OMIM:251230
HP:0003811	Neonatal death	26227	PHGDH	OMIM:256520
HP:0003811	Neonatal death	6862	TBXT	OMIM:615709
HP:0003811	Neonatal death	8241	RBM10	OMIM:311900
HP:0003811	Neonatal death	26154	ABCA12	OMIM:242500
HP:0003811	Neonatal death	3572	IL6ST	OMIM:619751
HP:0003811	Neonatal death	5314	PKHD1	OMIM:263200
HP:0003811	Neonatal death	29957	SLC25A24	OMIM:612289
HP:0003811	Neonatal death	55165	CEP55	OMIM:236500
HP:0003811	Neonatal death	4927	NUP88	OMIM:618393
HP:0003811	Neonatal death	51360	MBTPS2	OMIM:308205
HP:0003811	Neonatal death	51360	MBTPS2	ORPHA:85284
HP:0003811	Neonatal death	2187	FANCB	OMIM:314390
HP:0003811	Neonatal death	7547	ZIC3	OMIM:314390
HP:0003811	Neonatal death	2571	GAD1	OMIM:619124
HP:0003811	Neonatal death	4716	NDUFB10	OMIM:619003
HP:0003811	Neonatal death	291	SLC25A4	OMIM:617184
HP:0003811	Neonatal death	25802	LMOD1	OMIM:619362
HP:0003811	Neonatal death	27031	NPHP3	OMIM:208540
HP:0003811	Neonatal death	5192	PEX10	OMIM:614870
HP:0003811	Neonatal death	55278	QRSL1	OMIM:618835
HP:0003811	Neonatal death	23396	PIP5K1C	OMIM:611369
HP:0003811	Neonatal death	283459	GATC	OMIM:618839
HP:0003811	Neonatal death	617	BCS1L	OMIM:124000
HP:0003811	Neonatal death	3930	LBR	OMIM:215140
HP:0003811	Neonatal death	5889	RAD51C	OMIM:613390
HP:0003811	Neonatal death	3339	HSPG2	OMIM:224410
HP:0003811	Neonatal death	79989	IFT56	OMIM:619534
HP:0003811	Neonatal death	442721	LMOD2	OMIM:619897
HP:0003811	Neonatal death	3655	ITGA6	OMIM:619817
HP:0003811	Neonatal death	55005	RMND1	OMIM:614922
HP:0003811	Neonatal death	5195	PEX14	OMIM:614887
HP:0003811	Neonatal death	10269	ZMPSTE24	OMIM:275210
HP:0003811	Neonatal death	55901	THSD1	OMIM:620244
HP:0003811	Neonatal death	1832	DSP	OMIM:609638
HP:0003811	Neonatal death	27247	NFU1	OMIM:605711
HP:0003811	Neonatal death	57505	AARS2	OMIM:614096
HP:0003811	Neonatal death	10243	GPHN	OMIM:615501
HP:0003811	Neonatal death	27429	HTRA2	OMIM:617248
HP:0003811	Neonatal death	27152	INTU	OMIM:617925
HP:0003811	Neonatal death	498	ATP5F1A	OMIM:615228
HP:0003811	Neonatal death	29969	MDFIC	OMIM:620014
HP:0003811	Neonatal death	2108	ETFA	OMIM:231680
HP:0003811	Neonatal death	2109	ETFB	OMIM:231680
HP:0003811	Neonatal death	2110	ETFDH	OMIM:231680
HP:0003812	Phenotypic variability	3736	KCNA1	OMIM:160120
HP:0003812	Phenotypic variability	2673	GFPT1	OMIM:608931
HP:0003812	Phenotypic variability	1145	CHRNE	OMIM:608931
HP:0003812	Phenotypic variability	3887	KRT81	OMIM:158000
HP:0003812	Phenotypic variability	3889	KRT83	OMIM:158000
HP:0003812	Phenotypic variability	3892	KRT86	OMIM:158000
HP:0003812	Phenotypic variability	51750	RTEL1	OMIM:615190
HP:0003812	Phenotypic variability	1291	COL6A1	OMIM:254090
HP:0003812	Phenotypic variability	1292	COL6A2	OMIM:254090
HP:0003812	Phenotypic variability	1293	COL6A3	OMIM:254090
HP:0003812	Phenotypic variability	79621	RNASEH2B	OMIM:610181
HP:0003812	Phenotypic variability	6834	SURF1	OMIM:616684
HP:0003812	Phenotypic variability	56978	PRDM8	OMIM:616640
HP:0003812	Phenotypic variability	51660	MPC1	OMIM:614741
HP:0003812	Phenotypic variability	2737	GLI3	OMIM:175700
HP:0003812	Phenotypic variability	2737	GLI3	OMIM:146510
HP:0003812	Phenotypic variability	9927	MFN2	OMIM:609260
HP:0003812	Phenotypic variability	4744	NEFH	OMIM:616924
HP:0003812	Phenotypic variability	4171	MCM2	OMIM:616968
HP:0003812	Phenotypic variability	5376	PMP22	OMIM:118220
HP:0003812	Phenotypic variability	5828	PEX2	OMIM:614867
HP:0003812	Phenotypic variability	50937	CDON	OMIM:614226
HP:0003812	Phenotypic variability	6469	SHH	OMIM:611638
HP:0003812	Phenotypic variability	6469	SHH	OMIM:147250
HP:0003812	Phenotypic variability	79581	SLC52A2	OMIM:614707
HP:0003812	Phenotypic variability	6323	SCN1A	OMIM:604403
HP:0003812	Phenotypic variability	2736	GLI2	OMIM:610829
HP:0003812	Phenotypic variability	2736	GLI2	OMIM:615849
HP:0003812	Phenotypic variability	123606	NIPA1	OMIM:600363
HP:0003812	Phenotypic variability	55869	HDAC8	OMIM:300882
HP:0003812	Phenotypic variability	8050	PDHX	OMIM:245349
HP:0003812	Phenotypic variability	2138	EYA1	OMIM:602588
HP:0003812	Phenotypic variability	2623	GATA1	OMIM:300367
HP:0003812	Phenotypic variability	284217	LAMA1	OMIM:615960
HP:0003812	Phenotypic variability	57122	NUP107	OMIM:616730
HP:0003812	Phenotypic variability	26011	TENM4	OMIM:616736
HP:0003812	Phenotypic variability	2561	GABRB2	OMIM:617829
HP:0003812	Phenotypic variability	1749	DLX5	OMIM:183600
HP:0003812	Phenotypic variability	124583	CANT1	OMIM:251450
HP:0003812	Phenotypic variability	79147	FKRP	OMIM:607155
HP:0003812	Phenotypic variability	57104	PNPLA2	OMIM:610717
HP:0003812	Phenotypic variability	4512	MT-CO1	OMIM:540000
HP:0003812	Phenotypic variability	4513	MT-CO2	OMIM:540000
HP:0003812	Phenotypic variability	4514	MT-CO3	OMIM:540000
HP:0003812	Phenotypic variability	4519	MT-CYB	OMIM:540000
HP:0003812	Phenotypic variability	4511	MT-TC	OMIM:540000
HP:0003812	Phenotypic variability	4574	MT-TS1	OMIM:540000
HP:0003812	Phenotypic variability	4575	MT-TS2	OMIM:540000
HP:0003812	Phenotypic variability	4558	MT-TF	OMIM:540000
HP:0003812	Phenotypic variability	4541	MT-ND6	OMIM:540000
HP:0003812	Phenotypic variability	4567	MT-TL1	OMIM:540000
HP:0003812	Phenotypic variability	4540	MT-ND5	OMIM:540000
HP:0003812	Phenotypic variability	4566	MT-TK	OMIM:540000
HP:0003812	Phenotypic variability	4535	MT-ND1	OMIM:540000
HP:0003812	Phenotypic variability	4572	MT-TQ	OMIM:540000
HP:0003812	Phenotypic variability	4577	MT-TV	OMIM:540000
HP:0003812	Phenotypic variability	4578	MT-TW	OMIM:540000
HP:0003812	Phenotypic variability	7054	TH	OMIM:605407
HP:0003812	Phenotypic variability	23556	PIGN	OMIM:614080
HP:0003812	Phenotypic variability	219285	SAMD9L	OMIM:159550
HP:0003812	Phenotypic variability	8813	DPM1	OMIM:608799
HP:0003812	Phenotypic variability	5631	PRPS1	OMIM:311070
HP:0003812	Phenotypic variability	8260	NAA10	OMIM:300855
HP:0003812	Phenotypic variability	2733	GLE1	OMIM:611890
HP:0003812	Phenotypic variability	81545	FBXO38	OMIM:615575
HP:0003812	Phenotypic variability	7450	VWF	OMIM:613554
HP:0003812	Phenotypic variability	6786	STIM1	OMIM:612783
HP:0003812	Phenotypic variability	79947	DHDDS	OMIM:617836
HP:0003812	Phenotypic variability	91137	SLC25A46	OMIM:616505
HP:0003812	Phenotypic variability	916	CD3E	OMIM:615615
HP:0003812	Phenotypic variability	93627	TBCK	OMIM:616900
HP:0003812	Phenotypic variability	3035	HARS1	OMIM:616625
HP:0003812	Phenotypic variability	2147	F2	OMIM:613679
HP:0003812	Phenotypic variability	8560	DEGS1	OMIM:618404
HP:0003812	Phenotypic variability	6683	SPAST	OMIM:182601
HP:0003812	Phenotypic variability	51062	ATL1	OMIM:182600
HP:0003812	Phenotypic variability	5308	PITX2	OMIM:180500
HP:0003812	Phenotypic variability	6513	SLC2A1	OMIM:614847
HP:0003812	Phenotypic variability	84233	TMEM126A	OMIM:612989
HP:0003812	Phenotypic variability	5077	PAX3	OMIM:148820
HP:0003812	Phenotypic variability	10804	GJB6	OMIM:129500
HP:0003812	Phenotypic variability	4982	TNFRSF11B	OMIM:239000
HP:0003812	Phenotypic variability	5860	QDPR	OMIM:261630
HP:0003812	Phenotypic variability	1968	EIF2S3	OMIM:300148
HP:0003812	Phenotypic variability	3832	KIF11	OMIM:152950
HP:0003812	Phenotypic variability	115286	SLC25A26	OMIM:616794
HP:0003812	Phenotypic variability	5283	PIGH	OMIM:618010
HP:0003812	Phenotypic variability	7170	TPM3	OMIM:255310
HP:0003812	Phenotypic variability	120	ADD3	OMIM:617008
HP:0003812	Phenotypic variability	7291	TWIST1	OMIM:101400
HP:0003812	Phenotypic variability	2263	FGFR2	OMIM:101400
HP:0003812	Phenotypic variability	9373	PLAA	OMIM:617527
HP:0003812	Phenotypic variability	55157	DARS2	OMIM:611105
HP:0003812	Phenotypic variability	23064	SETX	OMIM:606002
HP:0003812	Phenotypic variability	9896	FIG4	OMIM:611228
HP:0003812	Phenotypic variability	6524	SLC5A2	OMIM:233100
HP:0003812	Phenotypic variability	6697	SPR	OMIM:612716
HP:0003828	Variable expressivity	3736	KCNA1	OMIM:160120
HP:0003828	Variable expressivity	2673	GFPT1	OMIM:608931
HP:0003828	Variable expressivity	1145	CHRNE	OMIM:608931
HP:0003828	Variable expressivity	3887	KRT81	OMIM:158000
HP:0003828	Variable expressivity	3889	KRT83	OMIM:158000
HP:0003828	Variable expressivity	3892	KRT86	OMIM:158000
HP:0003828	Variable expressivity	51750	RTEL1	OMIM:615190
HP:0003828	Variable expressivity	1291	COL6A1	OMIM:254090
HP:0003828	Variable expressivity	1292	COL6A2	OMIM:254090
HP:0003828	Variable expressivity	1293	COL6A3	OMIM:254090
HP:0003828	Variable expressivity	79621	RNASEH2B	OMIM:610181
HP:0003828	Variable expressivity	6834	SURF1	OMIM:616684
HP:0003828	Variable expressivity	56978	PRDM8	OMIM:616640
HP:0003828	Variable expressivity	51660	MPC1	OMIM:614741
HP:0003828	Variable expressivity	2737	GLI3	OMIM:175700
HP:0003828	Variable expressivity	2737	GLI3	OMIM:146510
HP:0003828	Variable expressivity	9927	MFN2	OMIM:609260
HP:0003828	Variable expressivity	4744	NEFH	OMIM:616924
HP:0003828	Variable expressivity	4171	MCM2	OMIM:616968
HP:0003828	Variable expressivity	5376	PMP22	OMIM:118220
HP:0003828	Variable expressivity	5828	PEX2	OMIM:614867
HP:0003828	Variable expressivity	50937	CDON	OMIM:614226
HP:0003828	Variable expressivity	6469	SHH	OMIM:611638
HP:0003828	Variable expressivity	6469	SHH	OMIM:147250
HP:0003828	Variable expressivity	79581	SLC52A2	OMIM:614707
HP:0003828	Variable expressivity	6323	SCN1A	OMIM:604403
HP:0003828	Variable expressivity	2736	GLI2	OMIM:610829
HP:0003828	Variable expressivity	2736	GLI2	OMIM:615849
HP:0003828	Variable expressivity	123606	NIPA1	OMIM:600363
HP:0003828	Variable expressivity	55869	HDAC8	OMIM:300882
HP:0003828	Variable expressivity	8050	PDHX	OMIM:245349
HP:0003828	Variable expressivity	2138	EYA1	OMIM:602588
HP:0003828	Variable expressivity	2623	GATA1	OMIM:300367
HP:0003828	Variable expressivity	284217	LAMA1	OMIM:615960
HP:0003828	Variable expressivity	57122	NUP107	OMIM:616730
HP:0003828	Variable expressivity	26011	TENM4	OMIM:616736
HP:0003828	Variable expressivity	2561	GABRB2	OMIM:617829
HP:0003828	Variable expressivity	1749	DLX5	OMIM:183600
HP:0003828	Variable expressivity	124583	CANT1	OMIM:251450
HP:0003828	Variable expressivity	79147	FKRP	OMIM:607155
HP:0003828	Variable expressivity	57104	PNPLA2	OMIM:610717
HP:0003828	Variable expressivity	4512	MT-CO1	OMIM:540000
HP:0003828	Variable expressivity	4513	MT-CO2	OMIM:540000
HP:0003828	Variable expressivity	4514	MT-CO3	OMIM:540000
HP:0003828	Variable expressivity	4519	MT-CYB	OMIM:540000
HP:0003828	Variable expressivity	4511	MT-TC	OMIM:540000
HP:0003828	Variable expressivity	4574	MT-TS1	OMIM:540000
HP:0003828	Variable expressivity	4575	MT-TS2	OMIM:540000
HP:0003828	Variable expressivity	4558	MT-TF	OMIM:540000
HP:0003828	Variable expressivity	4541	MT-ND6	OMIM:540000
HP:0003828	Variable expressivity	4567	MT-TL1	OMIM:540000
HP:0003828	Variable expressivity	4540	MT-ND5	OMIM:540000
HP:0003828	Variable expressivity	4566	MT-TK	OMIM:540000
HP:0003828	Variable expressivity	4535	MT-ND1	OMIM:540000
HP:0003828	Variable expressivity	4572	MT-TQ	OMIM:540000
HP:0003828	Variable expressivity	4577	MT-TV	OMIM:540000
HP:0003828	Variable expressivity	4578	MT-TW	OMIM:540000
HP:0003828	Variable expressivity	7054	TH	OMIM:605407
HP:0003828	Variable expressivity	23556	PIGN	OMIM:614080
HP:0003828	Variable expressivity	219285	SAMD9L	OMIM:159550
HP:0003828	Variable expressivity	8813	DPM1	OMIM:608799
HP:0003828	Variable expressivity	5631	PRPS1	OMIM:311070
HP:0003828	Variable expressivity	8260	NAA10	OMIM:300855
HP:0003828	Variable expressivity	2733	GLE1	OMIM:611890
HP:0003828	Variable expressivity	81545	FBXO38	OMIM:615575
HP:0003828	Variable expressivity	7450	VWF	OMIM:613554
HP:0003828	Variable expressivity	6786	STIM1	OMIM:612783
HP:0003828	Variable expressivity	79947	DHDDS	OMIM:617836
HP:0003828	Variable expressivity	91137	SLC25A46	OMIM:616505
HP:0003828	Variable expressivity	916	CD3E	OMIM:615615
HP:0003828	Variable expressivity	93627	TBCK	OMIM:616900
HP:0003828	Variable expressivity	3035	HARS1	OMIM:616625
HP:0003828	Variable expressivity	2147	F2	OMIM:613679
HP:0003828	Variable expressivity	8560	DEGS1	OMIM:618404
HP:0003828	Variable expressivity	6683	SPAST	OMIM:182601
HP:0003828	Variable expressivity	51062	ATL1	OMIM:182600
HP:0003828	Variable expressivity	5308	PITX2	OMIM:180500
HP:0003828	Variable expressivity	6513	SLC2A1	OMIM:614847
HP:0003828	Variable expressivity	84233	TMEM126A	OMIM:612989
HP:0003828	Variable expressivity	5077	PAX3	OMIM:148820
HP:0003828	Variable expressivity	10804	GJB6	OMIM:129500
HP:0003828	Variable expressivity	4982	TNFRSF11B	OMIM:239000
HP:0003828	Variable expressivity	5860	QDPR	OMIM:261630
HP:0003828	Variable expressivity	1968	EIF2S3	OMIM:300148
HP:0003828	Variable expressivity	3832	KIF11	OMIM:152950
HP:0003828	Variable expressivity	115286	SLC25A26	OMIM:616794
HP:0003828	Variable expressivity	5283	PIGH	OMIM:618010
HP:0003828	Variable expressivity	7170	TPM3	OMIM:255310
HP:0003828	Variable expressivity	120	ADD3	OMIM:617008
HP:0003828	Variable expressivity	7291	TWIST1	OMIM:101400
HP:0003828	Variable expressivity	2263	FGFR2	OMIM:101400
HP:0003828	Variable expressivity	9373	PLAA	OMIM:617527
HP:0003828	Variable expressivity	55157	DARS2	OMIM:611105
HP:0003828	Variable expressivity	23064	SETX	OMIM:606002
HP:0003828	Variable expressivity	9896	FIG4	OMIM:611228
HP:0003828	Variable expressivity	6524	SLC5A2	OMIM:233100
HP:0003828	Variable expressivity	6697	SPR	OMIM:612716
HP:0001522	Death in infancy	83483	PLVAP	OMIM:618183
HP:0001522	Death in infancy	10128	LRPPRC	OMIM:220111
HP:0001522	Death in infancy	199857	ALG14	OMIM:619036
HP:0001522	Death in infancy	79717	PPCS	OMIM:618189
HP:0001522	Death in infancy	3551	IKBKB	OMIM:615592
HP:0001522	Death in infancy	341640	FREM2	ORPHA:2052
HP:0001522	Death in infancy	80144	FRAS1	ORPHA:2052
HP:0001522	Death in infancy	23426	GRIP1	ORPHA:2052
HP:0001522	Death in infancy	8425	LTBP4	OMIM:613177
HP:0001522	Death in infancy	83700	JAM3	OMIM:613730
HP:0001522	Death in infancy	10059	DNM1L	OMIM:614388
HP:0001522	Death in infancy	55627	SMPD4	OMIM:618622
HP:0001522	Death in infancy	10667	FARS2	OMIM:614946
HP:0001522	Death in infancy	51	ACOX1	ORPHA:2971
HP:0001522	Death in infancy	2731	GLDC	OMIM:605899
HP:0001522	Death in infancy	275	AMT	OMIM:605899
HP:0001522	Death in infancy	4072	EPCAM	ORPHA:144
HP:0001522	Death in infancy	4292	MLH1	ORPHA:144
HP:0001522	Death in infancy	5395	PMS2	ORPHA:144
HP:0001522	Death in infancy	27030	MLH3	ORPHA:144
HP:0001522	Death in infancy	22909	FAN1	ORPHA:144
HP:0001522	Death in infancy	7048	TGFBR2	ORPHA:144
HP:0001522	Death in infancy	3845	KRAS	ORPHA:144
HP:0001522	Death in infancy	5290	PIK3CA	ORPHA:144
HP:0001522	Death in infancy	2956	MSH6	ORPHA:144
HP:0001522	Death in infancy	5378	PMS1	ORPHA:144
HP:0001522	Death in infancy	4436	MSH2	ORPHA:144
HP:0001522	Death in infancy	54968	TMEM70	ORPHA:1194
HP:0001522	Death in infancy	249	ALPL	OMIM:241500
HP:0001522	Death in infancy	65993	MRPS34	OMIM:617664
HP:0001522	Death in infancy	80816	ASXL3	OMIM:615485
HP:0001522	Death in infancy	1352	COX10	OMIM:619046
HP:0001522	Death in infancy	387787	LIPT2	OMIM:617668
HP:0001522	Death in infancy	4056	LTC4S	OMIM:614037
HP:0001522	Death in infancy	1785	DNM2	OMIM:615368
HP:0001522	Death in infancy	477	ATP1A2	OMIM:619605
HP:0001522	Death in infancy	2670	GFAP	OMIM:203450
HP:0001522	Death in infancy	2137	EXTL3	OMIM:617425
HP:0001522	Death in infancy	10084	PQBP1	ORPHA:93946
HP:0001522	Death in infancy	5979	RET	ORPHA:99803
HP:0001522	Death in infancy	429	ASCL1	ORPHA:99803
HP:0001522	Death in infancy	8929	PHOX2B	ORPHA:99803
HP:0001522	Death in infancy	1410	CRYAB	OMIM:613869
HP:0001522	Death in infancy	6439	SFTPB	OMIM:265120
HP:0001522	Death in infancy	7259	TSPYL1	ORPHA:168593
HP:0001522	Death in infancy	55687	TRMU	OMIM:613070
HP:0001522	Death in infancy	100131801	PET100	OMIM:619055
HP:0001522	Death in infancy	3899	AFF3	OMIM:619297
HP:0001522	Death in infancy	1020	CDK5	OMIM:616342
HP:0001522	Death in infancy	150094	SIK1	OMIM:616341
HP:0001522	Death in infancy	1272	CNTN1	OMIM:612540
HP:0001522	Death in infancy	84876	ORAI1	OMIM:612782
HP:0001522	Death in infancy	3988	LIPA	OMIM:278000
HP:0001522	Death in infancy	6773	STAT2	OMIM:618886
HP:0001522	Death in infancy	1801	DPH1	OMIM:616901
HP:0001522	Death in infancy	8792	TNFRSF11A	OMIM:612301
HP:0001522	Death in infancy	55681	SCYL2	OMIM:618766
HP:0001522	Death in infancy	64359	NXN	ORPHA:1507
HP:0001522	Death in infancy	4920	ROR2	ORPHA:1507
HP:0001522	Death in infancy	21	ABCA3	OMIM:610921
HP:0001522	Death in infancy	546	ATRX	ORPHA:847
HP:0001522	Death in infancy	54675	CRLS1	OMIM:620167
HP:0001522	Death in infancy	8802	SUCLG1	OMIM:245400
HP:0001522	Death in infancy	1717	DHCR7	OMIM:270400
HP:0001522	Death in infancy	9377	COX5A	OMIM:619064
HP:0001522	Death in infancy	118429	ANTXR2	ORPHA:2028
HP:0001522	Death in infancy	388962	BOLA3	OMIM:614299
HP:0001522	Death in infancy	4632	MYL1	OMIM:618414
HP:0001522	Death in infancy	63894	VIPAS39	OMIM:613404
HP:0001522	Death in infancy	79053	ALG8	OMIM:608104
HP:0001522	Death in infancy	1174	AP1S1	OMIM:609313
HP:0001522	Death in infancy	5373	PMM2	OMIM:212065
HP:0001522	Death in infancy	63901	FAM111A	OMIM:602361
HP:0001522	Death in infancy	26154	ABCA12	OMIM:242500
HP:0001522	Death in infancy	57217	TTC7A	OMIM:243150
HP:0001522	Death in infancy	2629	GBA1	ORPHA:85212
HP:0001522	Death in infancy	2629	GBA1	OMIM:230900
HP:0001522	Death in infancy	65080	MRPL44	OMIM:615395
HP:0001522	Death in infancy	5190	PEX6	OMIM:614862
HP:0001522	Death in infancy	5190	PEX6	ORPHA:912
HP:0001522	Death in infancy	9255	AIMP1	OMIM:260600
HP:0001522	Death in infancy	5828	PEX2	OMIM:614866
HP:0001522	Death in infancy	5828	PEX2	ORPHA:912
HP:0001522	Death in infancy	10013	HDAC6	ORPHA:163966
HP:0001522	Death in infancy	8021	NUP214	OMIM:618426
HP:0001522	Death in infancy	128674	PROKR2	ORPHA:95496
HP:0001522	Death in infancy	89884	LHX4	ORPHA:95496
HP:0001522	Death in infancy	55717	WDR11	ORPHA:95496
HP:0001522	Death in infancy	6091	ROBO1	ORPHA:95496
HP:0001522	Death in infancy	8820	HESX1	ORPHA:95496
HP:0001522	Death in infancy	50937	CDON	ORPHA:95496
HP:0001522	Death in infancy	23432	GPR161	ORPHA:95496
HP:0001522	Death in infancy	23474	ETHE1	OMIM:602473
HP:0001522	Death in infancy	84992	PIGY	OMIM:616809
HP:0001522	Death in infancy	51611	DPH5	OMIM:620070
HP:0001522	Death in infancy	6628	SNRPB	ORPHA:1393
HP:0001522	Death in infancy	8818	DPM2	OMIM:615042
HP:0001522	Death in infancy	9321	TRIP11	OMIM:184260
HP:0001522	Death in infancy	9321	TRIP11	ORPHA:166272
HP:0001522	Death in infancy	10436	EMG1	ORPHA:1270
HP:0001522	Death in infancy	57169	ZNFX1	OMIM:619644
HP:0001522	Death in infancy	55670	PEX26	OMIM:614872
HP:0001522	Death in infancy	55670	PEX26	ORPHA:912
HP:0001522	Death in infancy	28976	ACAD9	OMIM:611126
HP:0001522	Death in infancy	9409	PEX16	OMIM:614876
HP:0001522	Death in infancy	9409	PEX16	ORPHA:912
HP:0001522	Death in infancy	25802	LMOD1	ORPHA:2241
HP:0001522	Death in infancy	4629	MYH11	ORPHA:2241
HP:0001522	Death in infancy	72	ACTG2	ORPHA:2241
HP:0001522	Death in infancy	4638	MYLK	ORPHA:2241
HP:0001522	Death in infancy	917	CD3G	OMIM:615607
HP:0001522	Death in infancy	2239	GPC4	ORPHA:373
HP:0001522	Death in infancy	2719	GPC3	ORPHA:373
HP:0001522	Death in infancy	4000	LMNA	ORPHA:157973
HP:0001522	Death in infancy	6603	SMARCD2	OMIM:617475
HP:0001522	Death in infancy	729920	CRPPA	OMIM:614643
HP:0001522	Death in infancy	8504	PEX3	OMIM:614882
HP:0001522	Death in infancy	8504	PEX3	ORPHA:912
HP:0001522	Death in infancy	54916	TMEM260	OMIM:617478
HP:0001522	Death in infancy	2261	FGFR3	OMIM:100800
HP:0001522	Death in infancy	2720	GLB1	OMIM:230500
HP:0001522	Death in infancy	3339	HSPG2	ORPHA:800
HP:0001522	Death in infancy	3914	LAMB3	OMIM:226700
HP:0001522	Death in infancy	3909	LAMA3	OMIM:226700
HP:0001522	Death in infancy	3909	LAMA3	OMIM:619784
HP:0001522	Death in infancy	3918	LAMC2	OMIM:226700
HP:0001522	Death in infancy	3918	LAMC2	OMIM:619786
HP:0001522	Death in infancy	27247	NFU1	OMIM:605711
HP:0001522	Death in infancy	57505	AARS2	OMIM:614096
HP:0001522	Death in infancy	51645	PPIL1	OMIM:619301
HP:0001522	Death in infancy	205327	C2orf69	OMIM:619423
HP:0001522	Death in infancy	51362	CDC40	OMIM:619302
HP:0001522	Death in infancy	4633	MYL2	OMIM:619424
HP:0001522	Death in infancy	91137	SLC25A46	OMIM:619303
HP:0001522	Death in infancy	1892	ECHS1	OMIM:616277
HP:0001522	Death in infancy	133686	NADK2	OMIM:616034
HP:0001522	Death in infancy	51025	PAM16	OMIM:613320
HP:0001522	Death in infancy	27429	HTRA2	OMIM:617248
HP:0001522	Death in infancy	57724	EPG5	ORPHA:1493
HP:0001522	Death in infancy	5824	PEX19	ORPHA:912
HP:0001522	Death in infancy	8799	PEX11B	ORPHA:912
HP:0001522	Death in infancy	5830	PEX5	ORPHA:912
HP:0001522	Death in infancy	5189	PEX1	ORPHA:912
HP:0001522	Death in infancy	5193	PEX12	ORPHA:912
HP:0001522	Death in infancy	5194	PEX13	ORPHA:912
HP:0001522	Death in infancy	5195	PEX14	ORPHA:912
HP:0001522	Death in infancy	5192	PEX10	ORPHA:912
HP:0001522	Death in infancy	56052	ALG1	OMIM:608540
HP:0001522	Death in infancy	9488	PIGB	OMIM:618580
HP:0001522	Death in infancy	91949	COG7	OMIM:608779
HP:0001522	Death in infancy	2243	FGA	OMIM:202400
HP:0001522	Death in infancy	2244	FGB	OMIM:202400
HP:0001522	Death in infancy	2266	FGG	OMIM:202400
HP:0001522	Death in infancy	10112	KIF20A	OMIM:619433
HP:0001522	Death in infancy	5339	PLEC	OMIM:226730
HP:0001522	Death in infancy	3691	ITGB4	OMIM:226730
HP:0001522	Death in infancy	112	ADCY6	OMIM:616287
HP:0001522	Death in infancy	2187	FANCB	OMIM:300514
HP:0001522	Death in infancy	56203	LMOD3	OMIM:616165
HP:0001522	Death in infancy	7167	TPI1	OMIM:615512
HP:0001522	Death in infancy	100151683	RNU4ATAC	OMIM:210710
HP:0001522	Death in infancy	9526	MPDU1	OMIM:609180
HP:0001522	Death in infancy	4729	NDUFV2	OMIM:618229
HP:0001522	Death in infancy	10102	TSFM	OMIM:610505
HP:0001522	Death in infancy	256297	PTF1A	OMIM:609069
HP:0001522	Death in infancy	56945	MRPS22	OMIM:611719
HP:0001522	Death in infancy	283989	TSEN54	OMIM:225753
HP:0001522	Death in infancy	4695	NDUFA2	OMIM:618235
HP:0001522	Death in infancy	6809	STX3	OMIM:619446
HP:0001522	Death in infancy	51601	LIPT1	OMIM:616299
HP:0001522	Death in infancy	54931	TRMT10C	OMIM:616974
HP:0001522	Death in infancy	79631	EFL1	OMIM:617941
HP:0001522	Death in infancy	5660	PSAP	ORPHA:139406
HP:0001522	Death in infancy	5660	PSAP	OMIM:611721
HP:0001522	Death in infancy	5660	PSAP	OMIM:611722
HP:0001522	Death in infancy	29968	PSAT1	OMIM:610992
HP:0001522	Death in infancy	10683	DLL3	OMIM:277300
HP:0001522	Death in infancy	145873	MESP2	OMIM:277300
HP:0001522	Death in infancy	4952	OCRL	ORPHA:534
HP:0001522	Death in infancy	56975	FAM20C	OMIM:259775
HP:0001522	Death in infancy	170302	ARX	ORPHA:452
HP:0001522	Death in infancy	5980	REV3L	ORPHA:570
HP:0001522	Death in infancy	23129	PLXND1	ORPHA:570
HP:0001522	Death in infancy	4703	NEB	OMIM:619334
HP:0001522	Death in infancy	537	ATP6AP1	OMIM:300972
HP:0001522	Death in infancy	25915	NDUFAF3	OMIM:618240
HP:0001522	Death in infancy	4998	ORC1	OMIM:224690
HP:0001522	Death in infancy	7019	TFAM	OMIM:617156
HP:0001522	Death in infancy	2068	ERCC2	ORPHA:1466
HP:0001522	Death in infancy	2068	ERCC2	OMIM:601675
HP:0001522	Death in infancy	2067	ERCC1	ORPHA:1466
HP:0001522	Death in infancy	2074	ERCC6	ORPHA:1466
HP:0001522	Death in infancy	2073	ERCC5	ORPHA:1466
HP:0001522	Death in infancy	7965	AIMP2	OMIM:618006
HP:0001522	Death in infancy	80746	TSEN2	OMIM:612389
HP:0001522	Death in infancy	2917	GRM7	OMIM:618922
HP:0001522	Death in infancy	22845	DOLK	OMIM:610768
HP:0001522	Death in infancy	64093	SMOC1	ORPHA:1106
HP:0001522	Death in infancy	197131	UBR1	ORPHA:2315
HP:0001522	Death in infancy	6821	SUOX	OMIM:272300
HP:0001522	Death in infancy	1641	DCX	OMIM:300067
HP:0001522	Death in infancy	6329	SCN4A	ORPHA:682
HP:0001522	Death in infancy	26276	VPS33B	OMIM:208085
HP:0001522	Death in infancy	5631	PRPS1	OMIM:301835
HP:0001522	Death in infancy	3977	LIFR	OMIM:601559
HP:0001522	Death in infancy	4905	NSF	OMIM:619340
HP:0001522	Death in infancy	5277	PIGA	OMIM:300868
HP:0001522	Death in infancy	57511	COG6	OMIM:614576
HP:0001522	Death in infancy	9971	NR1H4	OMIM:617049
HP:0001522	Death in infancy	9419	CRIPT	OMIM:615789
HP:0001522	Death in infancy	2313	FLI1	ORPHA:2308
HP:0001522	Death in infancy	60386	SLC25A19	ORPHA:99742
HP:0001522	Death in infancy	8200	GDF5	OMIM:200700
HP:0001522	Death in infancy	8200	GDF5	ORPHA:2098
HP:0001522	Death in infancy	9997	SCO2	OMIM:604377
HP:0001522	Death in infancy	7490	WT1	OMIM:608978
HP:0001522	Death in infancy	80347	COASY	OMIM:618266
HP:0001522	Death in infancy	51241	COX16	OMIM:619355
HP:0001522	Death in infancy	37	ACADVL	OMIM:201475
HP:0001522	Death in infancy	3852	KRT5	OMIM:619599
HP:0001522	Death in infancy	1861	TOR1A	OMIM:618947
HP:0001522	Death in infancy	29957	SLC25A24	OMIM:612289
HP:0001522	Death in infancy	8087	FXR1	OMIM:618822
HP:0001522	Death in infancy	3704	ITPA	OMIM:616647
HP:0001522	Death in infancy	6608	SMO	OMIM:241800
HP:0001522	Death in infancy	658	BMPR1B	ORPHA:2098
HP:0001522	Death in infancy	3425	IDUA	ORPHA:93473
HP:0001522	Death in infancy	51360	MBTPS2	OMIM:308205
HP:0001522	Death in infancy	8567	MADD	OMIM:619004
HP:0001522	Death in infancy	291	SLC25A4	OMIM:617184
HP:0001522	Death in infancy	60528	ELAC2	OMIM:615440
HP:0001522	Death in infancy	55278	QRSL1	OMIM:618835
HP:0001522	Death in infancy	7284	TUFM	OMIM:610678
HP:0001522	Death in infancy	4645	MYO5B	OMIM:251850
HP:0001522	Death in infancy	283459	GATC	OMIM:618839
HP:0001522	Death in infancy	1376	CPT2	OMIM:608836
HP:0001522	Death in infancy	57158	JPH2	OMIM:619492
HP:0001522	Death in infancy	6123	RPL3L	OMIM:619371
HP:0001522	Death in infancy	10577	NPC2	OMIM:607625
HP:0001522	Death in infancy	1836	SLC26A2	OMIM:256050
HP:0001522	Death in infancy	5889	RAD51C	OMIM:613390
HP:0001522	Death in infancy	57020	VPS35L	OMIM:619135
HP:0001522	Death in infancy	29954	POMT2	OMIM:613150
HP:0001522	Death in infancy	4938	OAS1	OMIM:618042
HP:0001522	Death in infancy	27040	LAT	OMIM:617514
HP:0001522	Death in infancy	4724	NDUFS4	OMIM:252010
HP:0001522	Death in infancy	10491	CRTAP	OMIM:610682
HP:0001522	Death in infancy	55005	RMND1	OMIM:614922
HP:0001522	Death in infancy	55191	NADSYN1	OMIM:618845
HP:0001522	Death in infancy	10225	CD96	ORPHA:1308
HP:0001522	Death in infancy	9939	RBM8A	OMIM:274000
HP:0001522	Death in infancy	23529	CLCF1	ORPHA:1545
HP:0001522	Death in infancy	9244	CRLF1	ORPHA:1545
HP:0001522	Death in infancy	9897	WASHC5	ORPHA:7
HP:0001522	Death in infancy	28952	CCDC22	ORPHA:7
HP:0001522	Death in infancy	9054	NFS1	OMIM:619386
HP:0001522	Death in infancy	4893	NRAS	OMIM:249400
HP:0001522	Death in infancy	221927	BRAT1	OMIM:614498
HP:0001522	Death in infancy	131377	KLHL40	OMIM:615348
HP:0001522	Death in infancy	255758	DYNLT2B	OMIM:617405
HP:0003819	Death in childhood	2074	ERCC6	OMIM:133540
HP:0003819	Death in childhood	2074	ERCC6	OMIM:214150
HP:0003819	Death in childhood	1738	DLD	OMIM:246900
HP:0003819	Death in childhood	2243	FGA	OMIM:202400
HP:0003819	Death in childhood	2244	FGB	OMIM:202400
HP:0003819	Death in childhood	2266	FGG	OMIM:202400
HP:0003819	Death in childhood	79717	PPCS	OMIM:618189
HP:0003819	Death in childhood	374291	NDUFS7	OMIM:618224
HP:0003819	Death in childhood	4723	NDUFV1	OMIM:618225
HP:0003819	Death in childhood	4574	MT-TS1	OMIM:220110
HP:0003819	Death in childhood	4570	MT-TN	OMIM:220110
HP:0003819	Death in childhood	6834	SURF1	OMIM:220110
HP:0003819	Death in childhood	8425	LTBP4	OMIM:613177
HP:0003819	Death in childhood	100151683	RNU4ATAC	OMIM:210710
HP:0003819	Death in childhood	201595	STT3B	OMIM:615597
HP:0003819	Death in childhood	51412	ACTL6B	OMIM:618468
HP:0003819	Death in childhood	4967	OGDH	OMIM:203740
HP:0003819	Death in childhood	10667	FARS2	OMIM:614946
HP:0003819	Death in childhood	5830	PEX5	OMIM:214110
HP:0003819	Death in childhood	10102	TSFM	OMIM:610505
HP:0003819	Death in childhood	197131	UBR1	OMIM:243800
HP:0003819	Death in childhood	55610	VPS50	OMIM:619685
HP:0003819	Death in childhood	3074	HEXB	OMIM:268800
HP:0003819	Death in childhood	23149	FCHO1	OMIM:619164
HP:0003819	Death in childhood	477	ATP1A2	OMIM:619605
HP:0003819	Death in childhood	1841	DTYMK	OMIM:619847
HP:0003819	Death in childhood	790	CAD	OMIM:616457
HP:0003819	Death in childhood	2670	GFAP	OMIM:203450
HP:0003819	Death in childhood	79631	EFL1	OMIM:617941
HP:0003819	Death in childhood	65082	VPS33A	OMIM:617303
HP:0003819	Death in childhood	2068	ERCC2	OMIM:610756
HP:0003819	Death in childhood	79158	GNPTAB	OMIM:252500
HP:0003819	Death in childhood	2067	ERCC1	OMIM:610758
HP:0003819	Death in childhood	5189	PEX1	OMIM:214100
HP:0003819	Death in childhood	79068	FTO	OMIM:612938
HP:0003819	Death in childhood	4784	NFIX	OMIM:602535
HP:0003819	Death in childhood	8647	ABCB11	OMIM:601847
HP:0003819	Death in childhood	4703	NEB	OMIM:619334
HP:0003819	Death in childhood	60561	RINT1	OMIM:618641
HP:0003819	Death in childhood	100131801	PET100	OMIM:619055
HP:0003819	Death in childhood	7084	TK2	OMIM:609560
HP:0003819	Death in childhood	23229	ARHGEF9	OMIM:300607
HP:0003819	Death in childhood	1801	DPH1	OMIM:616901
HP:0003819	Death in childhood	8792	TNFRSF11A	OMIM:612301
HP:0003819	Death in childhood	80746	TSEN2	OMIM:612389
HP:0003819	Death in childhood	55681	SCYL2	OMIM:618766
HP:0003819	Death in childhood	8772	FADD	OMIM:613759
HP:0003819	Death in childhood	3913	LAMB2	OMIM:609049
HP:0003819	Death in childhood	6606	SMN1	OMIM:253300
HP:0003819	Death in childhood	91647	ATPAF2	OMIM:604273
HP:0003819	Death in childhood	8802	SUCLG1	OMIM:245400
HP:0003819	Death in childhood	9377	COX5A	OMIM:619064
HP:0003819	Death in childhood	3155	HMGCL	OMIM:246450
HP:0003819	Death in childhood	22872	SEC31A	OMIM:618651
HP:0003819	Death in childhood	54968	TMEM70	OMIM:614052
HP:0003819	Death in childhood	497661	C18orf32	OMIM:619985
HP:0003819	Death in childhood	51300	TIMMDC1	OMIM:618251
HP:0003819	Death in childhood	7174	TPP2	OMIM:619220
HP:0003819	Death in childhood	4714	NDUFB8	OMIM:618252
HP:0003819	Death in childhood	6785	ELOVL4	OMIM:614457
HP:0003819	Death in childhood	113278	SLC52A3	OMIM:211530
HP:0003819	Death in childhood	1174	AP1S1	OMIM:609313
HP:0003819	Death in childhood	5373	PMM2	OMIM:212065
HP:0003819	Death in childhood	7490	WT1	OMIM:608978
HP:0003819	Death in childhood	11340	EXOSC8	OMIM:616081
HP:0003819	Death in childhood	57217	TTC7A	OMIM:243150
HP:0003819	Death in childhood	3852	KRT5	OMIM:619599
HP:0003819	Death in childhood	84879	MFSD2A	OMIM:616486
HP:0003819	Death in childhood	11222	MRPL3	OMIM:614582
HP:0003819	Death in childhood	1182	CLCN3	OMIM:619517
HP:0003819	Death in childhood	5828	PEX2	OMIM:614867
HP:0003819	Death in childhood	8021	NUP214	OMIM:618426
HP:0003819	Death in childhood	538	ATP7A	OMIM:309400
HP:0003819	Death in childhood	90624	LYRM7	OMIM:615838
HP:0003819	Death in childhood	79751	SLC25A22	OMIM:609304
HP:0003819	Death in childhood	84992	PIGY	OMIM:616809
HP:0003819	Death in childhood	51360	MBTPS2	OMIM:308205
HP:0003819	Death in childhood	2571	GAD1	OMIM:619124
HP:0003819	Death in childhood	8567	MADD	OMIM:619004
HP:0003819	Death in childhood	8567	MADD	OMIM:619005
HP:0003819	Death in childhood	374354	NHLRC2	OMIM:618278
HP:0003819	Death in childhood	128240	NAXE	OMIM:617186
HP:0003819	Death in childhood	10651	MTX2	OMIM:619127
HP:0003819	Death in childhood	57169	ZNFX1	OMIM:619644
HP:0003819	Death in childhood	60528	ELAC2	OMIM:615440
HP:0003819	Death in childhood	84340	GFM2	OMIM:618397
HP:0003819	Death in childhood	5788	PTPRC	OMIM:619924
HP:0003819	Death in childhood	440138	ALG11	OMIM:613661
HP:0003819	Death in childhood	28976	ACAD9	OMIM:611126
HP:0003819	Death in childhood	57038	RARS2	OMIM:611523
HP:0003819	Death in childhood	917	CD3G	OMIM:615607
HP:0003819	Death in childhood	57158	JPH2	OMIM:619492
HP:0003819	Death in childhood	4351	MPI	OMIM:602579
HP:0003819	Death in childhood	9342	SNAP29	OMIM:609528
HP:0003819	Death in childhood	10577	NPC2	OMIM:607625
HP:0003819	Death in childhood	5873	RAB27A	OMIM:607624
HP:0003819	Death in childhood	10084	PQBP1	OMIM:309500
HP:0003819	Death in childhood	55739	NAXD	OMIM:618321
HP:0003819	Death in childhood	5331	PLCB3	OMIM:618961
HP:0003819	Death in childhood	6324	SCN1B	OMIM:617350
HP:0003819	Death in childhood	4938	OAS1	OMIM:618042
HP:0003819	Death in childhood	26503	SLC17A5	OMIM:269920
HP:0003819	Death in childhood	9197	SLC33A1	OMIM:614482
HP:0003819	Death in childhood	6603	SMARCD2	OMIM:617475
HP:0003819	Death in childhood	79147	FKRP	OMIM:613153
HP:0003819	Death in childhood	111	ADCY5	OMIM:619651
HP:0003819	Death in childhood	84833	ATP5MK	OMIM:618683
HP:0003819	Death in childhood	27040	LAT	OMIM:617514
HP:0003819	Death in childhood	729920	CRPPA	OMIM:614643
HP:0003819	Death in childhood	29960	MRM2	OMIM:618567
HP:0003819	Death in childhood	55005	RMND1	OMIM:614922
HP:0003819	Death in childhood	283989	TSEN54	OMIM:277470
HP:0003819	Death in childhood	84153	RNASEH2C	OMIM:610329
HP:0003819	Death in childhood	5631	PRPS1	OMIM:300661
HP:0003819	Death in childhood	3909	LAMA3	OMIM:619784
HP:0003819	Death in childhood	57505	AARS2	OMIM:614096
HP:0003819	Death in childhood	3735	KARS1	OMIM:619147
HP:0003819	Death in childhood	10533	ATG7	OMIM:619422
HP:0003819	Death in childhood	56947	MFF	OMIM:617086
HP:0003819	Death in childhood	205327	C2orf69	OMIM:619423
HP:0003819	Death in childhood	18	ABAT	OMIM:613163
HP:0003819	Death in childhood	133686	NADK2	OMIM:616034
HP:0003819	Death in childhood	51025	PAM16	OMIM:613320
HP:0003819	Death in childhood	10535	RNASEH2A	OMIM:610333
HP:0003819	Death in childhood	871	SERPINH1	OMIM:613848
HP:0003826	Stillbirth	3930	LBR	OMIM:215140
HP:0003826	Stillbirth	8200	GDF5	OMIM:200700
HP:0003826	Stillbirth	9321	TRIP11	OMIM:200600
HP:0003826	Stillbirth	7490	WT1	OMIM:608978
HP:0003826	Stillbirth	1836	SLC26A2	OMIM:600972
HP:0003826	Stillbirth	1836	SLC26A2	OMIM:256050
HP:0003826	Stillbirth	3572	IL6ST	OMIM:619751
HP:0003826	Stillbirth	1280	COL2A1	OMIM:151210
HP:0003826	Stillbirth	1280	COL2A1	OMIM:200610
HP:0003826	Stillbirth	4593	MUSK	OMIM:208150
HP:0003826	Stillbirth	153241	CEP120	OMIM:616300
HP:0003826	Stillbirth	2629	GBA1	ORPHA:85212
HP:0003826	Stillbirth	50814	NSDHL	OMIM:308050
HP:0003826	Stillbirth	100151683	RNU4ATAC	OMIM:210710
HP:0003826	Stillbirth	55005	RMND1	OMIM:614922
HP:0003826	Stillbirth	284086	NEK8	OMIM:615415
HP:0003826	Stillbirth	1063	CENPF	OMIM:243605
HP:0003826	Stillbirth	10269	ZMPSTE24	OMIM:275210
HP:0003826	Stillbirth	55165	CEP55	OMIM:236500
HP:0003826	Stillbirth	219844	HYLS1	OMIM:236680
HP:0003826	Stillbirth	5745	PTH1R	OMIM:215045
HP:0003826	Stillbirth	2317	FLNB	OMIM:108720
HP:0003826	Stillbirth	5447	POR	ORPHA:95699
HP:0003826	Stillbirth	28962	OSTM1	OMIM:259720
HP:0003826	Stillbirth	157570	ESCO2	OMIM:268300
HP:0003826	Stillbirth	10203	CALCRL	OMIM:618773
HP:0003826	Stillbirth	249	ALPL	OMIM:241500
HP:0003826	Stillbirth	5307	PITX1	OMIM:119800
HP:0003826	Stillbirth	1301	COL11A1	OMIM:228520
HP:0003826	Stillbirth	23426	GRIP1	OMIM:617667
HP:0003826	Stillbirth	2316	FLNA	OMIM:309350
HP:0003826	Stillbirth	2316	FLNA	OMIM:304120
HP:0003826	Stillbirth	163175	LGI4	OMIM:617468
HP:0003826	Stillbirth	23169	SLC35D1	OMIM:269250
HP:0003826	Stillbirth	26227	PHGDH	OMIM:256520
HP:0003829	Typified by incomplete penetrance	26121	PRPF31	OMIM:600138
HP:0003829	Typified by incomplete penetrance	57468	SLC12A5	OMIM:616685
HP:0003829	Typified by incomplete penetrance	2138	EYA1	OMIM:113650
HP:0003829	Typified by incomplete penetrance	2138	EYA1	OMIM:602588
HP:0003829	Typified by incomplete penetrance	6495	SIX1	OMIM:113650
HP:0003829	Typified by incomplete penetrance	6390	SDHB	OMIM:115310
HP:0003829	Typified by incomplete penetrance	128674	PROKR2	OMIM:244200
HP:0003829	Typified by incomplete penetrance	25913	POT1	OMIM:616568
HP:0003829	Typified by incomplete penetrance	25913	POT1	OMIM:615848
HP:0003829	Typified by incomplete penetrance	51621	KLF13	OMIM:612001
HP:0003829	Typified by incomplete penetrance	1139	CHRNA7	OMIM:612001
HP:0003829	Typified by incomplete penetrance	59341	TRPV4	OMIM:606071
HP:0003829	Typified by incomplete penetrance	59341	TRPV4	OMIM:600175
HP:0003829	Typified by incomplete penetrance	59341	TRPV4	OMIM:181405
HP:0003829	Typified by incomplete penetrance	9698	PUM1	OMIM:617931
HP:0003829	Typified by incomplete penetrance	2260	FGFR1	OMIM:147950
HP:0003829	Typified by incomplete penetrance	6513	SLC2A1	OMIM:612126
HP:0003829	Typified by incomplete penetrance	6513	SLC2A1	OMIM:614847
HP:0003829	Typified by incomplete penetrance	785	CACNB4	OMIM:613855
HP:0003829	Typified by incomplete penetrance	203547	VMA21	OMIM:310440
HP:0003829	Typified by incomplete penetrance	2566	GABRG2	OMIM:607681
HP:0003829	Typified by incomplete penetrance	773	CACNA1A	OMIM:108500
HP:0003829	Typified by incomplete penetrance	478	ATP1A3	OMIM:128235
HP:0003829	Typified by incomplete penetrance	60675	PROK2	OMIM:610628
HP:0003829	Typified by incomplete penetrance	1743	DLST	OMIM:618475
HP:0003829	Typified by incomplete penetrance	25814	ATXN10	OMIM:603516
HP:0003829	Typified by incomplete penetrance	6096	RORB	OMIM:618357
HP:0003829	Typified by incomplete penetrance	2050	EPHB4	OMIM:618196
HP:0003829	Typified by incomplete penetrance	4771	NF2	OMIM:162091
HP:0003829	Typified by incomplete penetrance	4771	NF2	OMIM:607174
HP:0003829	Typified by incomplete penetrance	6598	SMARCB1	OMIM:162091
HP:0003829	Typified by incomplete penetrance	201163	FLCN	OMIM:173600
HP:0003829	Typified by incomplete penetrance	55765	INAVA	OMIM:618077
HP:0003829	Typified by incomplete penetrance	64072	CDH23	OMIM:617540
HP:0003829	Typified by incomplete penetrance	23095	KIF1B	OMIM:256700
HP:0003829	Typified by incomplete penetrance	1135	CHRNA2	OMIM:610353
HP:0003829	Typified by incomplete penetrance	26011	TENM4	OMIM:616736
HP:0003829	Typified by incomplete penetrance	90678	LRSAM1	OMIM:614436
HP:0003829	Typified by incomplete penetrance	55997	CFC1	OMIM:605376
HP:0003829	Typified by incomplete penetrance	78987	CRELD1	OMIM:606217
HP:0003829	Typified by incomplete penetrance	7480	WNT10B	OMIM:225300
HP:0003829	Typified by incomplete penetrance	889	KRIT1	OMIM:116860
HP:0003829	Typified by incomplete penetrance	1137	CHRNA4	OMIM:600513
HP:0003829	Typified by incomplete penetrance	348980	HCN1	OMIM:618482
HP:0003829	Typified by incomplete penetrance	1493	CTLA4	OMIM:616100
HP:0003829	Typified by incomplete penetrance	4901	NRL	OMIM:613750
HP:0003829	Typified by incomplete penetrance	2562	GABRB3	OMIM:612269
HP:0003829	Typified by incomplete penetrance	5582	PRKCG	OMIM:605361
HP:0003829	Typified by incomplete penetrance	25778	DSTYK	OMIM:610805
HP:0003829	Typified by incomplete penetrance	1181	CLCN2	OMIM:605635
HP:0003829	Typified by incomplete penetrance	6469	SHH	OMIM:142945
HP:0003829	Typified by incomplete penetrance	6469	SHH	OMIM:611638
HP:0003829	Typified by incomplete penetrance	1641	DCX	OMIM:300067
HP:0003829	Typified by incomplete penetrance	57165	GJC2	OMIM:613480
HP:0003829	Typified by incomplete penetrance	9757	KMT2B	OMIM:617284
HP:0003829	Typified by incomplete penetrance	659	BMPR2	OMIM:178600
HP:0003829	Typified by incomplete penetrance	51428	DDX41	OMIM:616871
HP:0003829	Typified by incomplete penetrance	2705	GJB1	OMIM:302800
HP:0003829	Typified by incomplete penetrance	2332	FMR1	OMIM:300624
HP:0003829	Typified by incomplete penetrance	7098	TLR3	OMIM:613002
HP:0003829	Typified by incomplete penetrance	10320	IKZF1	OMIM:616873
HP:0003829	Typified by incomplete penetrance	148022	TICAM1	OMIM:614850
HP:0003829	Typified by incomplete penetrance	90268	OTULIN	OMIM:619986
HP:0003829	Typified by incomplete penetrance	7345	UCHL1	OMIM:613643
HP:0003829	Typified by incomplete penetrance	112476	PRRT2	OMIM:605751
HP:0003829	Typified by incomplete penetrance	112476	PRRT2	OMIM:128200
HP:0003829	Typified by incomplete penetrance	4233	MET	OMIM:605074
HP:0003829	Typified by incomplete penetrance	5546	PRCC	OMIM:605074
HP:0003829	Typified by incomplete penetrance	477	ATP1A2	OMIM:602481
HP:0003829	Typified by incomplete penetrance	10594	PRPF8	OMIM:600059
HP:0003829	Typified by incomplete penetrance	7273	TTN	OMIM:600334
HP:0003829	Typified by incomplete penetrance	5311	PKD2	OMIM:613095
HP:0003829	Typified by incomplete penetrance	7450	VWF	OMIM:193400
HP:0003829	Typified by incomplete penetrance	23432	GPR161	OMIM:155255
HP:0003829	Typified by incomplete penetrance	51684	SUFU	OMIM:155255
HP:0003829	Typified by incomplete penetrance	51684	SUFU	OMIM:607174
HP:0003829	Typified by incomplete penetrance	8518	ELP1	OMIM:155255
HP:0003829	Typified by incomplete penetrance	8643	PTCH2	OMIM:155255
HP:0003829	Typified by incomplete penetrance	675	BRCA2	OMIM:155255
HP:0003829	Typified by incomplete penetrance	1499	CTNNB1	OMIM:155255
HP:0003829	Typified by incomplete penetrance	2903	GRIN2A	OMIM:245570
HP:0003829	Typified by incomplete penetrance	63982	ANO3	OMIM:615034
HP:0003829	Typified by incomplete penetrance	6329	SCN4A	OMIM:170400
HP:0003829	Typified by incomplete penetrance	779	CACNA1S	OMIM:170400
HP:0003829	Typified by incomplete penetrance	5076	PAX2	OMIM:616002
HP:0003829	Typified by incomplete penetrance	8216	LZTR1	OMIM:615670
HP:0003829	Typified by incomplete penetrance	7015	TERT	OMIM:614742
HP:0003829	Typified by incomplete penetrance	79853	TM4SF20	OMIM:615432
HP:0003829	Typified by incomplete penetrance	9927	MFN2	OMIM:609260
HP:0003829	Typified by incomplete penetrance	84196	USP48	OMIM:620227
HP:0003829	Typified by incomplete penetrance	7012	TERC	OMIM:614743
HP:0003829	Typified by incomplete penetrance	1282	COL4A1	OMIM:175780
HP:0003829	Typified by incomplete penetrance	5888	RAD51	OMIM:614508
HP:0003829	Typified by incomplete penetrance	2065	ERBB3	OMIM:133180
HP:0003829	Typified by incomplete penetrance	4976	OPA1	OMIM:165500
HP:0003829	Typified by incomplete penetrance	5727	PTCH1	OMIM:610828
HP:0003829	Typified by incomplete penetrance	2736	GLI2	OMIM:610829
HP:0003829	Typified by incomplete penetrance	2736	GLI2	OMIM:615849
HP:0003829	Typified by incomplete penetrance	8204	NRIP1	OMIM:618270
HP:0003829	Typified by incomplete penetrance	81	ACTN4	OMIM:603278
HP:0003829	Typified by incomplete penetrance	51750	RTEL1	OMIM:616373
HP:0003829	Typified by incomplete penetrance	5073	PARN	OMIM:616371
HP:0003829	Typified by incomplete penetrance	2956	MSH6	OMIM:614350
HP:0003829	Typified by incomplete penetrance	55145	THAP1	OMIM:602629
HP:0003829	Typified by incomplete penetrance	2301	FOXE3	OMIM:617349
HP:0003829	Typified by incomplete penetrance	64135	IFIH1	OMIM:615846
HP:0003829	Typified by incomplete penetrance	182	JAG1	OMIM:118450
HP:0003829	Typified by incomplete penetrance	91662	NLRP12	OMIM:611762
HP:0003829	Typified by incomplete penetrance	29110	TBK1	OMIM:617900
HP:0003829	Typified by incomplete penetrance	9681	DEPDC5	OMIM:604364
HP:0003829	Typified by incomplete penetrance	10137	RBM12	OMIM:617629
HP:0003829	Typified by incomplete penetrance	6785	ELOVL4	OMIM:133190
HP:0003829	Typified by incomplete penetrance	1749	DLX5	OMIM:183600
HP:0003829	Typified by incomplete penetrance	1284	COL4A2	OMIM:614483
HP:0003829	Typified by incomplete penetrance	8131	NPRL3	OMIM:617118
HP:0003829	Typified by incomplete penetrance	120892	LRRK2	OMIM:607060
HP:0003829	Typified by incomplete penetrance	4041	LRP5	OMIM:617875
HP:0003829	Typified by incomplete penetrance	10641	NPRL2	OMIM:617116
HP:0003829	Typified by incomplete penetrance	140628	GATA5	OMIM:617912
HP:0003829	Typified by incomplete penetrance	256472	TMEM151A	OMIM:620245
HP:0003829	Typified by incomplete penetrance	51062	ATL1	OMIM:182600
HP:0003829	Typified by incomplete penetrance	3110	MNX1	OMIM:176450
HP:0003829	Typified by incomplete penetrance	6324	SCN1B	OMIM:604233
HP:0003829	Typified by incomplete penetrance	1371	CPOX	OMIM:121300
HP:0003829	Typified by incomplete penetrance	6599	SMARCC1	OMIM:620241
HP:0003829	Typified by incomplete penetrance	6496	SIX3	OMIM:157170
HP:0003829	Typified by incomplete penetrance	5903	RANBP2	OMIM:608033
HP:0003829	Typified by incomplete penetrance	2516	NR5A1	OMIM:617480
HP:0003829	Typified by incomplete penetrance	1630	DCC	OMIM:157600
HP:0003829	Typified by incomplete penetrance	5307	PITX1	OMIM:119800
HP:0003829	Typified by incomplete penetrance	4093	SMAD9	OMIM:615342
HP:0003829	Typified by incomplete penetrance	3832	KIF11	OMIM:152950
HP:0003829	Typified by incomplete penetrance	857	CAV1	OMIM:615343
HP:0003829	Typified by incomplete penetrance	6772	STAT1	OMIM:614892
HP:0003829	Typified by incomplete penetrance	8910	SGCE	OMIM:159900
HP:0003829	Typified by incomplete penetrance	5649	RELN	OMIM:616436
HP:0003829	Typified by incomplete penetrance	3798	KIF5A	OMIM:617921
HP:0003829	Typified by incomplete penetrance	2702	GJA5	OMIM:612474
HP:0003829	Typified by incomplete penetrance	2703	GJA8	OMIM:612474
HP:0003829	Typified by incomplete penetrance	2271	FH	OMIM:150800
HP:0003829	Typified by incomplete penetrance	22858	CILK1	OMIM:617924
HP:0003829	Typified by incomplete penetrance	8074	FGF23	OMIM:193100
HP:0003829	Typified by incomplete penetrance	4514	MT-CO3	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4519	MT-CYB	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4541	MT-ND6	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4540	MT-ND5	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4508	MT-ATP6	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4539	MT-ND4L	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4535	MT-ND1	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4536	MT-ND2	OMIM:535000
HP:0003829	Typified by incomplete penetrance	4538	MT-ND4	OMIM:535000
HP:0003829	Typified by incomplete penetrance	80000	GREB1L	OMIM:617805
HP:0003829	Typified by incomplete penetrance	1861	TOR1A	OMIM:128100
HP:0003829	Typified by incomplete penetrance	9987	HNRNPDL	OMIM:609115
HP:0003829	Typified by incomplete penetrance	6235	RPS29	OMIM:615909
HP:0003829	Typified by incomplete penetrance	4330	MN1	OMIM:607174
HP:0003829	Typified by incomplete penetrance	6605	SMARCE1	OMIM:607174
HP:0003829	Typified by incomplete penetrance	5728	PTEN	OMIM:607174
HP:0003829	Typified by incomplete penetrance	5155	PDGFB	OMIM:607174
HP:0003829	Typified by incomplete penetrance	4091	SMAD6	OMIM:614823
HP:0003831	Typified by age-related disease onset	26011	TENM4	OMIM:616736
HP:0003831	Typified by age-related disease onset	3000	GUCY2D	OMIM:601777
HP:0003831	Typified by age-related disease onset	22873	DZIP1	OMIM:610840
HP:0003831	Typified by age-related disease onset	8642	DCHS1	OMIM:607829
HP:0003832	Abnormality of the tibial plateaux	6399	TRAPPC2	ORPHA:93284
HP:0003834	Shoulder dislocation	9469	CHST3	OMIM:143095
HP:0003834	Shoulder dislocation	9469	CHST3	OMIM:245600
HP:0003834	Shoulder dislocation	1277	COL1A1	ORPHA:287
HP:0003834	Shoulder dislocation	1289	COL5A1	ORPHA:287
HP:0003834	Shoulder dislocation	1290	COL5A2	ORPHA:287
HP:0003834	Shoulder dislocation	375	ARF1	ORPHA:98892
HP:0003834	Shoulder dislocation	4131	MAP1B	ORPHA:98892
HP:0003834	Shoulder dislocation	2316	FLNA	ORPHA:98892
HP:0003834	Shoulder dislocation	23327	NEDD4L	ORPHA:98892
HP:0003834	Shoulder dislocation	160418	TMTC3	ORPHA:98892
HP:0003834	Shoulder dislocation	10564	ARFGEF2	ORPHA:98892
HP:0003834	Shoulder dislocation	55780	ERMARD	ORPHA:98892
HP:0003834	Shoulder dislocation	26229	B3GAT3	OMIM:245600
HP:0003834	Shoulder dislocation	55768	NGLY1	ORPHA:404454
HP:0003834	Shoulder dislocation	165	AEBP1	ORPHA:536532
HP:0003834	Shoulder dislocation	165	AEBP1	OMIM:618000
HP:0003834	Shoulder dislocation	57167	SALL4	OMIM:607323
HP:0003834	Shoulder dislocation	4000	LMNA	OMIM:212112
HP:0003834	Shoulder dislocation	1278	COL1A2	ORPHA:230851
HP:0003835	Shoulder subluxation	22827	PUF60	ORPHA:508498
HP:0003835	Shoulder subluxation	1289	COL5A1	OMIM:619329
HP:0003835	Shoulder subluxation	5351	PLOD1	ORPHA:1900
HP:0003836	Stippled calcification of the shoulder	5167	ENPP1	ORPHA:51608
HP:0003836	Stippled calcification of the shoulder	368	ABCC6	ORPHA:51608
HP:0002817	Abnormality of the upper limb	83932	SPRTN	OMIM:616200
HP:0002817	Abnormality of the upper limb	8425	LTBP4	OMIM:613177
HP:0002817	Abnormality of the upper limb	6228	RPS23	OMIM:617412
HP:0002817	Abnormality of the upper limb	51506	UFC1	OMIM:618076
HP:0002817	Abnormality of the upper limb	84987	COX14	OMIM:619053
HP:0002817	Abnormality of the upper limb	54453	RIN2	OMIM:613075
HP:0002817	Abnormality of the upper limb	114034	TOE1	OMIM:614969
HP:0002817	Abnormality of the upper limb	5442	POLRMT	OMIM:619743
HP:0002817	Abnormality of the upper limb	132158	GLYCTK	OMIM:220120
HP:0002817	Abnormality of the upper limb	55148	UBR7	OMIM:619189
HP:0002817	Abnormality of the upper limb	4591	TRIM37	OMIM:253250
HP:0002817	Abnormality of the upper limb	1349	COX7B	OMIM:309801
HP:0002817	Abnormality of the upper limb	3052	HCCS	OMIM:309801
HP:0002817	Abnormality of the upper limb	54539	NDUFB11	OMIM:309801
HP:0002817	Abnormality of the upper limb	5828	PEX2	OMIM:614866
HP:0002817	Abnormality of the upper limb	23137	SMC5	OMIM:620185
HP:0002817	Abnormality of the upper limb	27086	FOXP1	ORPHA:391372
HP:0002817	Abnormality of the upper limb	6878	TAF6	OMIM:617126
HP:0002817	Abnormality of the upper limb	3720	JARID2	OMIM:620098
HP:0002817	Abnormality of the upper limb	5193	PEX12	OMIM:266510
HP:0002817	Abnormality of the upper limb	6418	SET	OMIM:618106
HP:0002817	Abnormality of the upper limb	5515	PPP2CA	OMIM:618354
HP:0002817	Abnormality of the upper limb	23097	CDK19	OMIM:618916
HP:0002817	Abnormality of the upper limb	5530	PPP3CA	OMIM:617711
HP:0002817	Abnormality of the upper limb	5160	PDHA1	ORPHA:79243
HP:0002817	Abnormality of the upper limb	57187	THOC2	ORPHA:457240
HP:0002817	Abnormality of the upper limb	4329	ALDH6A1	OMIM:614105
HP:0002817	Abnormality of the upper limb	55617	TASP1	OMIM:618950
HP:0002817	Abnormality of the upper limb	1748	DLX4	OMIM:616788
HP:0002817	Abnormality of the upper limb	738	VPS51	OMIM:618606
HP:0002817	Abnormality of the upper limb	51594	NBAS	OMIM:614800
HP:0002817	Abnormality of the upper limb	3858	KRT10	OMIM:607602
HP:0002817	Abnormality of the upper limb	3858	KRT10	OMIM:609165
HP:0002817	Abnormality of the upper limb	121214	SDR9C7	OMIM:617574
HP:0002817	Abnormality of the upper limb	55651	NHP2	OMIM:224230
HP:0002817	Abnormality of the upper limb	55505	NOP10	OMIM:224230
HP:0002817	Abnormality of the upper limb	121391	KRT74	OMIM:194300
HP:0002817	Abnormality of the upper limb	7373	COL14A1	ORPHA:79501
HP:0002817	Abnormality of the upper limb	57511	COG6	ORPHA:363523
HP:0002817	Abnormality of the upper limb	57511	COG6	OMIM:615328
HP:0002817	Abnormality of the upper limb	22861	NLRP1	OMIM:617388
HP:0002817	Abnormality of the upper limb	5818	NECTIN1	ORPHA:3253
HP:0002817	Abnormality of the upper limb	5818	NECTIN1	OMIM:225060
HP:0002817	Abnormality of the upper limb	3889	KRT83	OMIM:617756
HP:0002817	Abnormality of the upper limb	7286	TUFT1	OMIM:607655
HP:0002817	Abnormality of the upper limb	9015	TAF1A	ORPHA:154
HP:0002817	Abnormality of the upper limb	5663	PSEN1	ORPHA:154
HP:0002817	Abnormality of the upper limb	6389	SDHA	ORPHA:154
HP:0002817	Abnormality of the upper limb	7112	TMPO	ORPHA:154
HP:0002817	Abnormality of the upper limb	9464	HAND2	ORPHA:154
HP:0002817	Abnormality of the upper limb	88	ACTN2	ORPHA:154
HP:0002817	Abnormality of the upper limb	10486	CAP2	ORPHA:154
HP:0002817	Abnormality of the upper limb	7168	TPM1	ORPHA:154
HP:0002817	Abnormality of the upper limb	7414	VCL	ORPHA:154
HP:0002817	Abnormality of the upper limb	70	ACTC1	ORPHA:154
HP:0002817	Abnormality of the upper limb	27063	ANKRD1	ORPHA:154
HP:0002817	Abnormality of the upper limb	8048	CSRP3	ORPHA:154
HP:0002817	Abnormality of the upper limb	7139	TNNT2	ORPHA:154
HP:0002817	Abnormality of the upper limb	1829	DSG2	ORPHA:154
HP:0002817	Abnormality of the upper limb	3910	LAMA4	ORPHA:154
HP:0002817	Abnormality of the upper limb	10587	TXNRD2	ORPHA:154
HP:0002817	Abnormality of the upper limb	5350	PLN	ORPHA:154
HP:0002817	Abnormality of the upper limb	91624	NEXN	ORPHA:154
HP:0002817	Abnormality of the upper limb	79717	PPCS	ORPHA:154
HP:0002817	Abnormality of the upper limb	5664	PSEN2	ORPHA:154
HP:0002817	Abnormality of the upper limb	4624	MYH6	ORPHA:154
HP:0002817	Abnormality of the upper limb	9529	BAG5	ORPHA:154
HP:0002817	Abnormality of the upper limb	4607	MYBPC3	ORPHA:154
HP:0002817	Abnormality of the upper limb	282996	RBM20	ORPHA:154
HP:0002817	Abnormality of the upper limb	7137	TNNI3	ORPHA:154
HP:0002817	Abnormality of the upper limb	2274	FHL2	ORPHA:154
HP:0002817	Abnormality of the upper limb	6901	TAFAZZIN	ORPHA:154
HP:0002817	Abnormality of the upper limb	22845	DOLK	ORPHA:154
HP:0002817	Abnormality of the upper limb	1756	DMD	ORPHA:154
HP:0002817	Abnormality of the upper limb	57798	GATAD1	ORPHA:154
HP:0002817	Abnormality of the upper limb	7134	TNNC1	ORPHA:154
HP:0002817	Abnormality of the upper limb	1674	DES	ORPHA:154
HP:0002817	Abnormality of the upper limb	6331	SCN5A	ORPHA:154
HP:0002817	Abnormality of the upper limb	79092	CARD14	OMIM:173200
HP:0002817	Abnormality of the upper limb	79092	CARD14	ORPHA:2897
HP:0002817	Abnormality of the upper limb	79650	USB1	OMIM:604173
HP:0002817	Abnormality of the upper limb	79650	USB1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	162	AP1B1	OMIM:242150
HP:0002817	Abnormality of the upper limb	4574	MT-TS1	ORPHA:2202
HP:0002817	Abnormality of the upper limb	1824	DSC2	OMIM:610476
HP:0002817	Abnormality of the upper limb	3849	KRT2	ORPHA:455
HP:0002817	Abnormality of the upper limb	6898	TAT	ORPHA:28378
HP:0002817	Abnormality of the upper limb	10483	SEC23B	ORPHA:201
HP:0002817	Abnormality of the upper limb	6392	SDHD	ORPHA:201
HP:0002817	Abnormality of the upper limb	205717	USF3	ORPHA:201
HP:0002817	Abnormality of the upper limb	100144748	KLLN	ORPHA:201
HP:0002817	Abnormality of the upper limb	285848	PNPLA1	OMIM:615024
HP:0002817	Abnormality of the upper limb	285848	PNPLA1	ORPHA:79394
HP:0002817	Abnormality of the upper limb	23328	SASH1	OMIM:618373
HP:0002817	Abnormality of the upper limb	1474	CST6	OMIM:618535
HP:0002817	Abnormality of the upper limb	412	STS	OMIM:308100
HP:0002817	Abnormality of the upper limb	54795	TRPM4	ORPHA:316
HP:0002817	Abnormality of the upper limb	242	ALOX12B	OMIM:242100
HP:0002817	Abnormality of the upper limb	242	ALOX12B	ORPHA:79394
HP:0002817	Abnormality of the upper limb	59344	ALOXE3	OMIM:242100
HP:0002817	Abnormality of the upper limb	59344	ALOXE3	OMIM:606545
HP:0002817	Abnormality of the upper limb	59344	ALOXE3	ORPHA:79394
HP:0002817	Abnormality of the upper limb	126410	CYP4F22	OMIM:604777
HP:0002817	Abnormality of the upper limb	348938	NIPAL4	OMIM:612281
HP:0002817	Abnormality of the upper limb	348938	NIPAL4	ORPHA:79394
HP:0002817	Abnormality of the upper limb	25959	KANK2	OMIM:616099
HP:0002817	Abnormality of the upper limb	57192	MCOLN1	ORPHA:578
HP:0002817	Abnormality of the upper limb	1493	CTLA4	ORPHA:3162
HP:0002817	Abnormality of the upper limb	940	CD28	ORPHA:3162
HP:0002817	Abnormality of the upper limb	7133	TNFRSF1B	ORPHA:3162
HP:0002817	Abnormality of the upper limb	79977	GRHL2	OMIM:616029
HP:0002817	Abnormality of the upper limb	286887	KRT6C	OMIM:615735
HP:0002817	Abnormality of the upper limb	79644	SRD5A3	ORPHA:324737
HP:0002817	Abnormality of the upper limb	80169	CTC1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	26277	TINF2	ORPHA:1775
HP:0002817	Abnormality of the upper limb	55135	WRAP53	ORPHA:1775
HP:0002817	Abnormality of the upper limb	4869	NPM1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	1736	DKC1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	204219	CERS3	ORPHA:79394
HP:0002817	Abnormality of the upper limb	7298	TYMS	OMIM:620040
HP:0002817	Abnormality of the upper limb	1593	CYP27A1	ORPHA:909
HP:0002817	Abnormality of the upper limb	7355	SLC35A2	ORPHA:356961
HP:0002817	Abnormality of the upper limb	540	ATP7B	ORPHA:905
HP:0002817	Abnormality of the upper limb	56983	POGLUT1	ORPHA:79145
HP:0002817	Abnormality of the upper limb	3852	KRT5	ORPHA:79145
HP:0002817	Abnormality of the upper limb	23509	POFUT1	ORPHA:79145
HP:0002817	Abnormality of the upper limb	55851	PSENEN	ORPHA:79145
HP:0002817	Abnormality of the upper limb	6775	STAT4	ORPHA:85408
HP:0002817	Abnormality of the upper limb	3560	IL2RB	ORPHA:85408
HP:0002817	Abnormality of the upper limb	79722	ANKRD55	ORPHA:85408
HP:0002817	Abnormality of the upper limb	26191	PTPN22	ORPHA:85408
HP:0002817	Abnormality of the upper limb	919	CD247	ORPHA:85408
HP:0002817	Abnormality of the upper limb	3559	IL2RA	ORPHA:85408
HP:0002817	Abnormality of the upper limb	5771	PTPN2	ORPHA:85408
HP:0002817	Abnormality of the upper limb	57152	SLURP1	ORPHA:87503
HP:0002817	Abnormality of the upper limb	9993	DGCR2	OMIM:192430
HP:0002817	Abnormality of the upper limb	8220	ESS2	OMIM:192430
HP:0002817	Abnormality of the upper limb	8214	DGCR6	OMIM:192430
HP:0002817	Abnormality of the upper limb	54487	DGCR8	OMIM:192430
HP:0002817	Abnormality of the upper limb	5428	POLG	ORPHA:298
HP:0002817	Abnormality of the upper limb	1890	TYMP	ORPHA:298
HP:0002817	Abnormality of the upper limb	3980	LIG3	ORPHA:298
HP:0002817	Abnormality of the upper limb	50484	RRM2B	ORPHA:298
HP:0002817	Abnormality of the upper limb	84572	GNPTG	OMIM:252605
HP:0002817	Abnormality of the upper limb	51360	MBTPS2	ORPHA:2273
HP:0002817	Abnormality of the upper limb	2717	GLA	OMIM:301500
HP:0002817	Abnormality of the upper limb	22930	RAB3GAP1	ORPHA:1387
HP:0002817	Abnormality of the upper limb	25782	RAB3GAP2	ORPHA:1387
HP:0002817	Abnormality of the upper limb	4210	MEFV	ORPHA:3243
HP:0002817	Abnormality of the upper limb	7840	ALMS1	OMIM:203800
HP:0002817	Abnormality of the upper limb	23389	MED13L	ORPHA:369891
HP:0002817	Abnormality of the upper limb	10804	GJB6	OMIM:129500
HP:0002817	Abnormality of the upper limb	3098	HK1	ORPHA:99953
HP:0002817	Abnormality of the upper limb	51651	PTRH2	ORPHA:456312
HP:0002817	Abnormality of the upper limb	7305	TYROBP	OMIM:221770
HP:0002817	Abnormality of the upper limb	9927	MFN2	ORPHA:99947
HP:0002817	Abnormality of the upper limb	54806	AHI1	ORPHA:475
HP:0002817	Abnormality of the upper limb	54806	AHI1	ORPHA:220493
HP:0002817	Abnormality of the upper limb	200894	ARL13B	ORPHA:475
HP:0002817	Abnormality of the upper limb	9731	CEP104	ORPHA:475
HP:0002817	Abnormality of the upper limb	23247	KATNIP	ORPHA:475
HP:0002817	Abnormality of the upper limb	219854	TMEM218	ORPHA:475
HP:0002817	Abnormality of the upper limb	95681	CEP41	ORPHA:475
HP:0002817	Abnormality of the upper limb	95681	CEP41	ORPHA:220493
HP:0002817	Abnormality of the upper limb	9786	KIAA0586	ORPHA:475
HP:0002817	Abnormality of the upper limb	10464	PIBF1	ORPHA:475
HP:0002817	Abnormality of the upper limb	23116	TOGARAM1	ORPHA:475
HP:0002817	Abnormality of the upper limb	25776	CBY1	ORPHA:475
HP:0002817	Abnormality of the upper limb	403	ARL3	ORPHA:475
HP:0002817	Abnormality of the upper limb	10682	EBP	ORPHA:401973
HP:0002817	Abnormality of the upper limb	5626	PROP1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	89884	LHX4	ORPHA:226307
HP:0002817	Abnormality of the upper limb	8022	LHX3	ORPHA:226307
HP:0002817	Abnormality of the upper limb	5449	POU1F1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	8820	HESX1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	5290	PIK3CA	ORPHA:60040
HP:0002817	Abnormality of the upper limb	51	ACOX1	ORPHA:2971
HP:0002817	Abnormality of the upper limb	7547	ZIC3	OMIM:314390
HP:0002817	Abnormality of the upper limb	26154	ABCA12	ORPHA:457
HP:0002817	Abnormality of the upper limb	8241	RBM10	ORPHA:2886
HP:0002817	Abnormality of the upper limb	51524	TMEM138	ORPHA:2318
HP:0002817	Abnormality of the upper limb	23090	ZNF423	ORPHA:2318
HP:0002817	Abnormality of the upper limb	10210	TOPORS	ORPHA:2754
HP:0002817	Abnormality of the upper limb	317662	FAM149B1	ORPHA:2754
HP:0002817	Abnormality of the upper limb	9897	WASHC5	ORPHA:7
HP:0002817	Abnormality of the upper limb	5566	PRKACA	ORPHA:289
HP:0002817	Abnormality of the upper limb	2313	FLI1	ORPHA:2308
HP:0002817	Abnormality of the upper limb	6309	SC5D	ORPHA:46059
HP:0002817	Abnormality of the upper limb	6309	SC5D	OMIM:607330
HP:0002817	Abnormality of the upper limb	894	CCND2	ORPHA:83473
HP:0002817	Abnormality of the upper limb	894	CCND2	OMIM:615938
HP:0002817	Abnormality of the upper limb	5296	PIK3R2	ORPHA:83473
HP:0002817	Abnormality of the upper limb	10000	AKT3	ORPHA:83473
HP:0002817	Abnormality of the upper limb	10000	AKT3	OMIM:615937
HP:0002817	Abnormality of the upper limb	26160	IFT172	OMIM:615630
HP:0002817	Abnormality of the upper limb	26160	IFT172	ORPHA:474
HP:0002817	Abnormality of the upper limb	26160	IFT172	OMIM:619471
HP:0002817	Abnormality of the upper limb	26160	IFT172	ORPHA:110
HP:0002817	Abnormality of the upper limb	54585	LZTFL1	OMIM:615994
HP:0002817	Abnormality of the upper limb	54585	LZTFL1	ORPHA:110
HP:0002817	Abnormality of the upper limb	8195	MKKS	OMIM:236700
HP:0002817	Abnormality of the upper limb	8195	MKKS	ORPHA:110
HP:0002817	Abnormality of the upper limb	8195	MKKS	ORPHA:2473
HP:0002817	Abnormality of the upper limb	56623	INPP5E	OMIM:213300
HP:0002817	Abnormality of the upper limb	56623	INPP5E	ORPHA:1454
HP:0002817	Abnormality of the upper limb	55593	OTUD5	OMIM:301056
HP:0002817	Abnormality of the upper limb	83479	DDX59	OMIM:174300
HP:0002817	Abnormality of the upper limb	83479	DDX59	ORPHA:2919
HP:0002817	Abnormality of the upper limb	84100	ARL6	OMIM:209900
HP:0002817	Abnormality of the upper limb	84100	ARL6	ORPHA:110
HP:0002817	Abnormality of the upper limb	79140	CCDC28B	OMIM:209900
HP:0002817	Abnormality of the upper limb	582	BBS1	OMIM:209900
HP:0002817	Abnormality of the upper limb	582	BBS1	ORPHA:110
HP:0002817	Abnormality of the upper limb	51057	WDPCP	OMIM:217085
HP:0002817	Abnormality of the upper limb	51057	WDPCP	ORPHA:110
HP:0002817	Abnormality of the upper limb	285600	KIAA0825	OMIM:618498
HP:0002817	Abnormality of the upper limb	5147	PDE6D	OMIM:615665
HP:0002817	Abnormality of the upper limb	26005	C2CD3	OMIM:615948
HP:0002817	Abnormality of the upper limb	26005	C2CD3	ORPHA:434179
HP:0002817	Abnormality of the upper limb	26040	SETBP1	OMIM:269150
HP:0002817	Abnormality of the upper limb	153241	CEP120	ORPHA:474
HP:0002817	Abnormality of the upper limb	51626	DYNC2LI1	ORPHA:474
HP:0002817	Abnormality of the upper limb	51626	DYNC2LI1	OMIM:617088
HP:0002817	Abnormality of the upper limb	79809	TTC21B	ORPHA:474
HP:0002817	Abnormality of the upper limb	92482	BBIP1	ORPHA:110
HP:0002817	Abnormality of the upper limb	11020	IFT27	ORPHA:110
HP:0002817	Abnormality of the upper limb	49855	SCAPER	ORPHA:110
HP:0002817	Abnormality of the upper limb	4867	NPHP1	ORPHA:110
HP:0002817	Abnormality of the upper limb	27241	BBS9	ORPHA:110
HP:0002817	Abnormality of the upper limb	27241	BBS9	OMIM:615986
HP:0002817	Abnormality of the upper limb	84984	CEP19	ORPHA:110
HP:0002817	Abnormality of the upper limb	22954	TRIM32	ORPHA:110
HP:0002817	Abnormality of the upper limb	79738	BBS10	ORPHA:110
HP:0002817	Abnormality of the upper limb	123016	TTC8	ORPHA:110
HP:0002817	Abnormality of the upper limb	583	BBS2	ORPHA:110
HP:0002817	Abnormality of the upper limb	583	BBS2	OMIM:615981
HP:0002817	Abnormality of the upper limb	585	BBS4	ORPHA:110
HP:0002817	Abnormality of the upper limb	55212	BBS7	ORPHA:110
HP:0002817	Abnormality of the upper limb	166379	BBS12	ORPHA:110
HP:0002817	Abnormality of the upper limb	166379	BBS12	OMIM:615989
HP:0002817	Abnormality of the upper limb	10806	SDCCAG8	ORPHA:110
HP:0002817	Abnormality of the upper limb	157657	CFAP418	ORPHA:110
HP:0002817	Abnormality of the upper limb	157657	CFAP418	OMIM:617406
HP:0002817	Abnormality of the upper limb	129880	BBS5	ORPHA:110
HP:0002817	Abnormality of the upper limb	80173	IFT74	ORPHA:110
HP:0002817	Abnormality of the upper limb	79005	SCNM1	OMIM:620107
HP:0002817	Abnormality of the upper limb	2736	GLI2	OMIM:610829
HP:0002817	Abnormality of the upper limb	80210	ARMC9	OMIM:617622
HP:0002817	Abnormality of the upper limb	257	ALX3	OMIM:136760
HP:0002817	Abnormality of the upper limb	23288	IQCE	OMIM:617642
HP:0002817	Abnormality of the upper limb	137392	CIBAR1	OMIM:618219
HP:0002817	Abnormality of the upper limb	7700	ZNF141	OMIM:615226
HP:0002817	Abnormality of the upper limb	9851	KIAA0753	OMIM:617127
HP:0002817	Abnormality of the upper limb	255758	DYNLT2B	OMIM:617405
HP:0002817	Abnormality of the upper limb	64132	XYLT2	OMIM:605822
HP:0002817	Abnormality of the upper limb	4088	SMAD3	ORPHA:284984
HP:0002817	Abnormality of the upper limb	4088	SMAD3	OMIM:613795
HP:0002817	Abnormality of the upper limb	4088	SMAD3	ORPHA:91387
HP:0002817	Abnormality of the upper limb	875	CBS	ORPHA:394
HP:0002817	Abnormality of the upper limb	875	CBS	OMIM:236200
HP:0002817	Abnormality of the upper limb	25970	SH2B1	ORPHA:261222
HP:0002817	Abnormality of the upper limb	199857	ALG14	OMIM:619036
HP:0002817	Abnormality of the upper limb	1075	CTSC	OMIM:245010
HP:0002817	Abnormality of the upper limb	1075	CTSC	ORPHA:678
HP:0002817	Abnormality of the upper limb	5351	PLOD1	OMIM:225400
HP:0002817	Abnormality of the upper limb	8076	MFAP5	OMIM:616166
HP:0002817	Abnormality of the upper limb	8076	MFAP5	ORPHA:91387
HP:0002817	Abnormality of the upper limb	72	ACTG2	ORPHA:2604
HP:0002817	Abnormality of the upper limb	30008	EFEMP2	OMIM:614437
HP:0002817	Abnormality of the upper limb	51114	ZDHHC9	ORPHA:776
HP:0002817	Abnormality of the upper limb	51114	ZDHHC9	OMIM:300799
HP:0002817	Abnormality of the upper limb	65109	UPF3B	ORPHA:776
HP:0002817	Abnormality of the upper limb	79693	YRDC	OMIM:619609
HP:0002817	Abnormality of the upper limb	1146	CHRNG	OMIM:265000
HP:0002817	Abnormality of the upper limb	2316	FLNA	OMIM:305620
HP:0002817	Abnormality of the upper limb	284058	KANSL1	ORPHA:363958
HP:0002817	Abnormality of the upper limb	284058	KANSL1	ORPHA:363965
HP:0002817	Abnormality of the upper limb	1272	CNTN1	OMIM:612540
HP:0002817	Abnormality of the upper limb	29920	PYCR2	ORPHA:481152
HP:0002817	Abnormality of the upper limb	29920	PYCR2	OMIM:616420
HP:0002817	Abnormality of the upper limb	1312	COMT	ORPHA:567
HP:0002817	Abnormality of the upper limb	221037	JMJD1C	ORPHA:567
HP:0002817	Abnormality of the upper limb	2812	GP1BB	ORPHA:567
HP:0002817	Abnormality of the upper limb	6239	RREB1	ORPHA:567
HP:0002817	Abnormality of the upper limb	7290	HIRA	ORPHA:567
HP:0002817	Abnormality of the upper limb	9632	SEC24C	ORPHA:567
HP:0002817	Abnormality of the upper limb	7353	UFD1	ORPHA:567
HP:0002817	Abnormality of the upper limb	421	ARVCF	ORPHA:567
HP:0002817	Abnormality of the upper limb	444	ASPH	OMIM:601552
HP:0002817	Abnormality of the upper limb	633	BGN	OMIM:300989
HP:0002817	Abnormality of the upper limb	79576	NKAP	OMIM:301039
HP:0002817	Abnormality of the upper limb	3188	HNRNPH2	OMIM:300986
HP:0002817	Abnormality of the upper limb	23152	CIC	OMIM:617600
HP:0002817	Abnormality of the upper limb	649	BMP1	OMIM:614856
HP:0002817	Abnormality of the upper limb	165	AEBP1	ORPHA:536532
HP:0002817	Abnormality of the upper limb	11285	B4GALT7	ORPHA:75496
HP:0002817	Abnormality of the upper limb	11285	B4GALT7	OMIM:130070
HP:0002817	Abnormality of the upper limb	10526	IPO8	OMIM:619472
HP:0002817	Abnormality of the upper limb	10526	IPO8	ORPHA:60030
HP:0002817	Abnormality of the upper limb	4534	MTM1	OMIM:310400
HP:0002817	Abnormality of the upper limb	5184	PEPD	ORPHA:742
HP:0002817	Abnormality of the upper limb	715	C1R	OMIM:130080
HP:0002817	Abnormality of the upper limb	60676	PAPPA2	OMIM:619489
HP:0002817	Abnormality of the upper limb	1742	DLG4	OMIM:618793
HP:0002817	Abnormality of the upper limb	6605	SMARCE1	OMIM:616938
HP:0002817	Abnormality of the upper limb	11107	PRDM5	ORPHA:90354
HP:0002817	Abnormality of the upper limb	84627	ZNF469	ORPHA:90354
HP:0002817	Abnormality of the upper limb	5727	PTCH1	ORPHA:377
HP:0002817	Abnormality of the upper limb	8643	PTCH2	ORPHA:377
HP:0002817	Abnormality of the upper limb	51684	SUFU	ORPHA:377
HP:0002817	Abnormality of the upper limb	4677	NARS1	OMIM:619092
HP:0002817	Abnormality of the upper limb	6651	SON	ORPHA:500150
HP:0002817	Abnormality of the upper limb	2193	FARSA	OMIM:619013
HP:0002817	Abnormality of the upper limb	4087	SMAD2	OMIM:619656
HP:0002817	Abnormality of the upper limb	4087	SMAD2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	7048	TGFBR2	OMIM:610168
HP:0002817	Abnormality of the upper limb	7048	TGFBR2	ORPHA:60030
HP:0002817	Abnormality of the upper limb	7048	TGFBR2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	29893	PSMC3IP	ORPHA:243
HP:0002817	Abnormality of the upper limb	171568	POLR3H	ORPHA:243
HP:0002817	Abnormality of the upper limb	2516	NR5A1	ORPHA:243
HP:0002817	Abnormality of the upper limb	125150	ZSWIM7	ORPHA:243
HP:0002817	Abnormality of the upper limb	9210	BMP15	ORPHA:243
HP:0002817	Abnormality of the upper limb	23514	SPIDR	ORPHA:243
HP:0002817	Abnormality of the upper limb	2492	FSHR	ORPHA:243
HP:0002817	Abnormality of the upper limb	56945	MRPS22	ORPHA:243
HP:0002817	Abnormality of the upper limb	646	BNC1	ORPHA:243
HP:0002817	Abnormality of the upper limb	4883	NPR3	OMIM:619543
HP:0002817	Abnormality of the upper limb	7043	TGFB3	OMIM:615582
HP:0002817	Abnormality of the upper limb	7043	TGFB3	ORPHA:91387
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	ORPHA:60030
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	OMIM:609192
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	ORPHA:91387
HP:0002817	Abnormality of the upper limb	56603	CYP26B1	OMIM:614416
HP:0002817	Abnormality of the upper limb	7042	TGFB2	OMIM:614816
HP:0002817	Abnormality of the upper limb	7042	TGFB2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4629	MYH11	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4015	LOX	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4089	SMAD4	ORPHA:91387
HP:0002817	Abnormality of the upper limb	59	ACTA2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	5592	PRKG1	ORPHA:91387
HP:0002817	Abnormality of the upper limb	2301	FOXE3	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4144	MAT2A	ORPHA:91387
HP:0002817	Abnormality of the upper limb	23493	HEY2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4638	MYLK	ORPHA:91387
HP:0002817	Abnormality of the upper limb	23400	ATP13A2	ORPHA:306674
HP:0002817	Abnormality of the upper limb	64374	SIL1	ORPHA:559
HP:0002817	Abnormality of the upper limb	51763	INPP5K	ORPHA:559
HP:0002817	Abnormality of the upper limb	5077	PAX3	ORPHA:896
HP:0002817	Abnormality of the upper limb	134218	DNAJC21	ORPHA:811
HP:0002817	Abnormality of the upper limb	79631	EFL1	ORPHA:811
HP:0002817	Abnormality of the upper limb	51119	SBDS	ORPHA:811
HP:0002817	Abnormality of the upper limb	6729	SRP54	ORPHA:811
HP:0002817	Abnormality of the upper limb	6926	TBX3	ORPHA:3138
HP:0002817	Abnormality of the upper limb	54808	DYM	OMIM:223800
HP:0002817	Abnormality of the upper limb	1280	COL2A1	OMIM:271700
HP:0002817	Abnormality of the upper limb	3930	LBR	OMIM:215140
HP:0002817	Abnormality of the upper limb	4921	DDR2	OMIM:271665
HP:0002817	Abnormality of the upper limb	3549	IHH	OMIM:112500
HP:0002817	Abnormality of the upper limb	2245	FGD1	OMIM:305400
HP:0002817	Abnormality of the upper limb	2245	FGD1	ORPHA:915
HP:0002817	Abnormality of the upper limb	9131	AIFM1	OMIM:300232
HP:0002817	Abnormality of the upper limb	10743	RAI1	OMIM:182290
HP:0002817	Abnormality of the upper limb	145173	B3GLCT	OMIM:261540
HP:0002817	Abnormality of the upper limb	23135	KDM6B	OMIM:618505
HP:0002817	Abnormality of the upper limb	54880	BCOR	ORPHA:2712
HP:0002817	Abnormality of the upper limb	1778	DYNC1H1	OMIM:614563
HP:0002817	Abnormality of the upper limb	4796	TONSL	ORPHA:93357
HP:0002817	Abnormality of the upper limb	5745	PTH1R	ORPHA:79106
HP:0002817	Abnormality of the upper limb	79718	TBL1XR1	OMIM:602342
HP:0002817	Abnormality of the upper limb	2200	FBN1	OMIM:608328
HP:0002817	Abnormality of the upper limb	171023	ASXL1	OMIM:605039
HP:0002817	Abnormality of the upper limb	2623	GATA1	OMIM:190685
HP:0002817	Abnormality of the upper limb	5277	PIGA	OMIM:300868
HP:0002817	Abnormality of the upper limb	55012	PPP2R3C	OMIM:618419
HP:0002817	Abnormality of the upper limb	23384	SPECC1L	OMIM:145420
HP:0002817	Abnormality of the upper limb	22907	DHX30	OMIM:617804
HP:0002817	Abnormality of the upper limb	2719	GPC3	OMIM:312870
HP:0002817	Abnormality of the upper limb	2239	GPC4	OMIM:312870
HP:0002817	Abnormality of the upper limb	5573	PRKAR1A	OMIM:101800
HP:0002817	Abnormality of the upper limb	2799	GNS	OMIM:252940
HP:0002817	Abnormality of the upper limb	2273	FHL1	OMIM:300280
HP:0002817	Abnormality of the upper limb	55343	SLC35C1	ORPHA:99843
HP:0002817	Abnormality of the upper limb	81794	ADAMTS10	OMIM:277600
HP:0002817	Abnormality of the upper limb	64840	PORCN	OMIM:305600
HP:0002817	Abnormality of the upper limb	64840	PORCN	ORPHA:2092
HP:0002817	Abnormality of the upper limb	6910	TBX5	ORPHA:392
HP:0002817	Abnormality of the upper limb	3094	HINT1	ORPHA:324442
HP:0002817	Abnormality of the upper limb	22880	MORC2	OMIM:616688
HP:0002817	Abnormality of the upper limb	1001	CDH3	OMIM:225280
HP:0002817	Abnormality of the upper limb	8626	TP63	OMIM:604292
HP:0002817	Abnormality of the upper limb	8626	TP63	ORPHA:2440
HP:0002817	Abnormality of the upper limb	8626	TP63	OMIM:103285
HP:0002817	Abnormality of the upper limb	8626	TP63	OMIM:603543
HP:0002817	Abnormality of the upper limb	8626	TP63	OMIM:605289
HP:0002817	Abnormality of the upper limb	8626	TP63	ORPHA:1896
HP:0002817	Abnormality of the upper limb	4047	LSS	ORPHA:2850
HP:0002817	Abnormality of the upper limb	197	AHSG	ORPHA:2850
HP:0002817	Abnormality of the upper limb	3694	ITGB6	ORPHA:2850
HP:0002817	Abnormality of the upper limb	79581	SLC52A2	OMIM:614707
HP:0002817	Abnormality of the upper limb	411	ARSB	OMIM:253200
HP:0002817	Abnormality of the upper limb	9150	CTDP1	OMIM:604168
HP:0002817	Abnormality of the upper limb	56704	JPH1	OMIM:607831
HP:0002817	Abnormality of the upper limb	51776	MAP3K20	OMIM:616890
HP:0002817	Abnormality of the upper limb	1750	DLX6	ORPHA:2440
HP:0002817	Abnormality of the upper limb	7979	SEM1	ORPHA:2440
HP:0002817	Abnormality of the upper limb	8945	BTRC	ORPHA:2440
HP:0002817	Abnormality of the upper limb	58513	EPS15L1	ORPHA:2440
HP:0002817	Abnormality of the upper limb	6468	FBXW4	ORPHA:2440
HP:0002817	Abnormality of the upper limb	7480	WNT10B	ORPHA:2440
HP:0002817	Abnormality of the upper limb	7480	WNT10B	OMIM:225300
HP:0002817	Abnormality of the upper limb	1749	DLX5	ORPHA:2440
HP:0002817	Abnormality of the upper limb	1749	DLX5	OMIM:183600
HP:0002817	Abnormality of the upper limb	1749	DLX5	OMIM:220600
HP:0002817	Abnormality of the upper limb	1717	DHCR7	ORPHA:818
HP:0002817	Abnormality of the upper limb	79158	GNPTAB	OMIM:252500
HP:0002817	Abnormality of the upper limb	79158	GNPTAB	OMIM:252600
HP:0002817	Abnormality of the upper limb	3516	RBPJ	ORPHA:974
HP:0002817	Abnormality of the upper limb	4851	NOTCH1	ORPHA:974
HP:0002817	Abnormality of the upper limb	57514	ARHGAP31	ORPHA:974
HP:0002817	Abnormality of the upper limb	57572	DOCK6	ORPHA:974
HP:0002817	Abnormality of the upper limb	285203	EOGT	ORPHA:974
HP:0002817	Abnormality of the upper limb	54567	DLL4	ORPHA:974
HP:0002817	Abnormality of the upper limb	8888	MCM3AP	OMIM:618124
HP:0002817	Abnormality of the upper limb	3423	IDS	OMIM:309900
HP:0002817	Abnormality of the upper limb	3664	IRF6	ORPHA:1300
HP:0002817	Abnormality of the upper limb	374969	SVBP	OMIM:618569
HP:0002817	Abnormality of the upper limb	3295	HSD17B4	OMIM:261515
HP:0002817	Abnormality of the upper limb	7476	WNT7A	OMIM:276820
HP:0002817	Abnormality of the upper limb	1509	CTSD	OMIM:610127
HP:0002817	Abnormality of the upper limb	64359	NXN	ORPHA:1507
HP:0002817	Abnormality of the upper limb	4920	ROR2	ORPHA:1507
HP:0002817	Abnormality of the upper limb	4313	MMP2	OMIM:259600
HP:0002817	Abnormality of the upper limb	2260	FGFR1	ORPHA:2117
HP:0002817	Abnormality of the upper limb	10397	NDRG1	ORPHA:99950
HP:0002817	Abnormality of the upper limb	2189	FANCG	OMIM:614082
HP:0002817	Abnormality of the upper limb	2189	FANCG	ORPHA:84
HP:0002817	Abnormality of the upper limb	80207	OPA3	ORPHA:67036
HP:0002817	Abnormality of the upper limb	9968	MED12	ORPHA:93932
HP:0002817	Abnormality of the upper limb	8200	GDF5	ORPHA:2639
HP:0002817	Abnormality of the upper limb	658	BMPR1B	ORPHA:2639
HP:0002817	Abnormality of the upper limb	672	BRCA1	ORPHA:84
HP:0002817	Abnormality of the upper limb	10459	MAD2L2	ORPHA:84
HP:0002817	Abnormality of the upper limb	7516	XRCC2	ORPHA:84
HP:0002817	Abnormality of the upper limb	29089	UBE2T	ORPHA:84
HP:0002817	Abnormality of the upper limb	675	BRCA2	ORPHA:84
HP:0002817	Abnormality of the upper limb	55120	FANCL	ORPHA:84
HP:0002817	Abnormality of the upper limb	2175	FANCA	ORPHA:84
HP:0002817	Abnormality of the upper limb	2187	FANCB	ORPHA:84
HP:0002817	Abnormality of the upper limb	2176	FANCC	ORPHA:84
HP:0002817	Abnormality of the upper limb	2178	FANCE	ORPHA:84
HP:0002817	Abnormality of the upper limb	2188	FANCF	ORPHA:84
HP:0002817	Abnormality of the upper limb	5888	RAD51	ORPHA:84
HP:0002817	Abnormality of the upper limb	5889	RAD51C	ORPHA:84
HP:0002817	Abnormality of the upper limb	55159	RFWD3	ORPHA:84
HP:0002817	Abnormality of the upper limb	83990	BRIP1	ORPHA:84
HP:0002817	Abnormality of the upper limb	57697	FANCM	ORPHA:84
HP:0002817	Abnormality of the upper limb	79728	PALB2	ORPHA:84
HP:0002817	Abnormality of the upper limb	84464	SLX4	ORPHA:84
HP:0002817	Abnormality of the upper limb	2072	ERCC4	ORPHA:84
HP:0002817	Abnormality of the upper limb	55215	FANCI	ORPHA:84
HP:0002817	Abnormality of the upper limb	64093	SMOC1	ORPHA:1106
HP:0002817	Abnormality of the upper limb	2261	FGFR3	OMIM:620192
HP:0002817	Abnormality of the upper limb	2261	FGFR3	ORPHA:2363
HP:0002817	Abnormality of the upper limb	23111	SPART	ORPHA:101000
HP:0002817	Abnormality of the upper limb	25942	SIN3A	ORPHA:94065
HP:0002817	Abnormality of the upper limb	1193	CLIC2	ORPHA:324410
HP:0002817	Abnormality of the upper limb	860	RUNX2	ORPHA:1452
HP:0002817	Abnormality of the upper limb	2255	FGF10	ORPHA:2363
HP:0002817	Abnormality of the upper limb	6469	SHH	ORPHA:93321
HP:0002817	Abnormality of the upper limb	6197	RPS6KA3	ORPHA:192
HP:0002817	Abnormality of the upper limb	6197	RPS6KA3	ORPHA:276630
HP:0002817	Abnormality of the upper limb	8925	HERC1	OMIM:617011
HP:0002817	Abnormality of the upper limb	5447	POR	OMIM:201750
HP:0002817	Abnormality of the upper limb	23512	SUZ12	OMIM:618786
HP:0002817	Abnormality of the upper limb	23512	SUZ12	ORPHA:3447
HP:0002817	Abnormality of the upper limb	9158	FIBP	ORPHA:500095
HP:0002817	Abnormality of the upper limb	9158	FIBP	OMIM:617107
HP:0002817	Abnormality of the upper limb	26580	BSCL2	OMIM:269700
HP:0002817	Abnormality of the upper limb	26580	BSCL2	ORPHA:528
HP:0002817	Abnormality of the upper limb	100151683	RNU4ATAC	OMIM:210710
HP:0002817	Abnormality of the upper limb	100151683	RNU4ATAC	ORPHA:2636
HP:0002817	Abnormality of the upper limb	3643	INSR	ORPHA:508
HP:0002817	Abnormality of the upper limb	3643	INSR	OMIM:246200
HP:0002817	Abnormality of the upper limb	5189	PEX1	ORPHA:3220
HP:0002817	Abnormality of the upper limb	5190	PEX6	ORPHA:3220
HP:0002817	Abnormality of the upper limb	85358	SHANK3	OMIM:606232
HP:0002817	Abnormality of the upper limb	85358	SHANK3	ORPHA:48652
HP:0002817	Abnormality of the upper limb	11128	POLR3A	OMIM:264090
HP:0002817	Abnormality of the upper limb	64324	NSD1	ORPHA:821
HP:0002817	Abnormality of the upper limb	64324	NSD1	OMIM:117550
HP:0002817	Abnormality of the upper limb	64324	NSD1	ORPHA:3447
HP:0002817	Abnormality of the upper limb	29072	SETD2	ORPHA:821
HP:0002817	Abnormality of the upper limb	10297	APC2	ORPHA:821
HP:0002817	Abnormality of the upper limb	55690	PACS1	OMIM:615009
HP:0002817	Abnormality of the upper limb	4221	MEN1	ORPHA:99725
HP:0002817	Abnormality of the upper limb	9049	AIP	ORPHA:99725
HP:0002817	Abnormality of the upper limb	9049	AIP	ORPHA:963
HP:0002817	Abnormality of the upper limb	8242	KDM5C	OMIM:300534
HP:0002817	Abnormality of the upper limb	440	ASNS	OMIM:615574
HP:0002817	Abnormality of the upper limb	9487	PIGL	OMIM:280000
HP:0002817	Abnormality of the upper limb	2146	EZH2	OMIM:277590
HP:0002817	Abnormality of the upper limb	2146	EZH2	ORPHA:3447
HP:0002817	Abnormality of the upper limb	5468	PPARG	ORPHA:528
HP:0002817	Abnormality of the upper limb	10555	AGPAT2	ORPHA:528
HP:0002817	Abnormality of the upper limb	10555	AGPAT2	OMIM:608594
HP:0002817	Abnormality of the upper limb	284119	CAVIN1	ORPHA:528
HP:0002817	Abnormality of the upper limb	2353	FOS	ORPHA:528
HP:0002817	Abnormality of the upper limb	857	CAV1	ORPHA:528
HP:0002817	Abnormality of the upper limb	83550	GPR101	ORPHA:963
HP:0002817	Abnormality of the upper limb	8726	EED	ORPHA:3447
HP:0002817	Abnormality of the upper limb	8726	EED	OMIM:617561
HP:0002817	Abnormality of the upper limb	6390	SDHB	OMIM:606764
HP:0002817	Abnormality of the upper limb	6391	SDHC	OMIM:606764
HP:0002817	Abnormality of the upper limb	3815	KIT	OMIM:606764
HP:0002817	Abnormality of the upper limb	4763	NF1	ORPHA:363700
HP:0002817	Abnormality of the upper limb	4763	NF1	ORPHA:97685
HP:0002817	Abnormality of the upper limb	372	ARCN1	OMIM:617164
HP:0002817	Abnormality of the upper limb	57167	SALL4	ORPHA:233
HP:0002817	Abnormality of the upper limb	57167	SALL4	ORPHA:959
HP:0002817	Abnormality of the upper limb	57167	SALL4	ORPHA:2307
HP:0002817	Abnormality of the upper limb	9935	MAFB	ORPHA:233
HP:0002817	Abnormality of the upper limb	1123	CHN1	ORPHA:233
HP:0002817	Abnormality of the upper limb	2137	EXTL3	ORPHA:508533
HP:0002817	Abnormality of the upper limb	22827	PUF60	ORPHA:508498
HP:0002817	Abnormality of the upper limb	65250	CPLANE1	OMIM:277170
HP:0002817	Abnormality of the upper limb	6608	SMO	OMIM:601707
HP:0002817	Abnormality of the upper limb	6608	SMO	ORPHA:1553
HP:0002817	Abnormality of the upper limb	4750	NEK1	OMIM:263520
HP:0002817	Abnormality of the upper limb	2737	GLI3	OMIM:175700
HP:0002817	Abnormality of the upper limb	2737	GLI3	ORPHA:380
HP:0002817	Abnormality of the upper limb	2737	GLI3	OMIM:174200
HP:0002817	Abnormality of the upper limb	64327	LMBR1	ORPHA:2378
HP:0002817	Abnormality of the upper limb	64327	LMBR1	OMIM:174500
HP:0002817	Abnormality of the upper limb	55027	HEATR3	OMIM:620072
HP:0002817	Abnormality of the upper limb	6299	SALL1	OMIM:107480
HP:0002817	Abnormality of the upper limb	6299	SALL1	ORPHA:857
HP:0002817	Abnormality of the upper limb	55112	DYNC2I1	ORPHA:93271
HP:0002817	Abnormality of the upper limb	57560	IFT80	ORPHA:93271
HP:0002817	Abnormality of the upper limb	57539	WDR35	ORPHA:93271
HP:0002817	Abnormality of the upper limb	79659	DYNC2H1	ORPHA:93271
HP:0002817	Abnormality of the upper limb	89891	DYNC2I2	ORPHA:93271
HP:0002817	Abnormality of the upper limb	374879	ZNF699	OMIM:619488
HP:0002817	Abnormality of the upper limb	374654	KIF7	OMIM:200990
HP:0002817	Abnormality of the upper limb	8318	CDC45	OMIM:617063
HP:0002817	Abnormality of the upper limb	51339	DACT1	ORPHA:857
HP:0002817	Abnormality of the upper limb	2177	FANCD2	OMIM:227646
HP:0002817	Abnormality of the upper limb	727857	BHLHA9	ORPHA:3329
HP:0002817	Abnormality of the upper limb	23133	PHF8	ORPHA:85287
HP:0002817	Abnormality of the upper limb	8481	OFD1	ORPHA:2750
HP:0002817	Abnormality of the upper limb	219844	HYLS1	OMIM:236680
HP:0002817	Abnormality of the upper limb	26123	TCTN3	ORPHA:2753
HP:0002817	Abnormality of the upper limb	26123	TCTN3	ORPHA:564
HP:0002817	Abnormality of the upper limb	2697	GJA1	ORPHA:2710
HP:0002817	Abnormality of the upper limb	3239	HOXD13	ORPHA:887
HP:0002817	Abnormality of the upper limb	7020	TFAP2A	OMIM:113620
HP:0002817	Abnormality of the upper limb	7020	TFAP2A	ORPHA:1297
HP:0002817	Abnormality of the upper limb	84314	TMEM107	ORPHA:564
HP:0002817	Abnormality of the upper limb	79867	TCTN2	ORPHA:564
HP:0002817	Abnormality of the upper limb	80776	B9D2	ORPHA:564
HP:0002817	Abnormality of the upper limb	79600	TCTN1	ORPHA:564
HP:0002817	Abnormality of the upper limb	57096	RPGRIP1	ORPHA:564
HP:0002817	Abnormality of the upper limb	79848	CSPP1	ORPHA:564
HP:0002817	Abnormality of the upper limb	80184	CEP290	ORPHA:564
HP:0002817	Abnormality of the upper limb	51259	TMEM216	ORPHA:564
HP:0002817	Abnormality of the upper limb	57545	CC2D2A	ORPHA:564
HP:0002817	Abnormality of the upper limb	79583	TMEM231	ORPHA:564
HP:0002817	Abnormality of the upper limb	91147	TMEM67	ORPHA:564
HP:0002817	Abnormality of the upper limb	79770	TXNDC15	ORPHA:564
HP:0002817	Abnormality of the upper limb	27077	B9D1	ORPHA:564
HP:0002817	Abnormality of the upper limb	23322	RPGRIP1L	ORPHA:564
HP:0002817	Abnormality of the upper limb	54903	MKS1	ORPHA:564
HP:0002817	Abnormality of the upper limb	65062	TMEM237	ORPHA:564
HP:0002817	Abnormality of the upper limb	10815	CPLX1	ORPHA:280
HP:0002817	Abnormality of the upper limb	10815	CPLX1	OMIM:194190
HP:0002817	Abnormality of the upper limb	54872	PIGG	ORPHA:280
HP:0002817	Abnormality of the upper limb	7469	NELFA	ORPHA:280
HP:0002817	Abnormality of the upper limb	1487	CTBP1	ORPHA:280
HP:0002817	Abnormality of the upper limb	1487	CTBP1	OMIM:194190
HP:0002817	Abnormality of the upper limb	3954	LETM1	ORPHA:280
HP:0002817	Abnormality of the upper limb	3954	LETM1	OMIM:194190
HP:0002817	Abnormality of the upper limb	7468	NSD2	ORPHA:280
HP:0002817	Abnormality of the upper limb	7468	NSD2	OMIM:194190
HP:0002817	Abnormality of the upper limb	2735	GLI1	OMIM:174400
HP:0002817	Abnormality of the upper limb	53834	FGFRL1	OMIM:194190
HP:0002817	Abnormality of the upper limb	9343	EFTUD2	OMIM:610536
HP:0002817	Abnormality of the upper limb	9343	EFTUD2	ORPHA:79113
HP:0002817	Abnormality of the upper limb	2263	FGFR2	OMIM:101200
HP:0002817	Abnormality of the upper limb	54332	GDAP1	OMIM:607706
HP:0002817	Abnormality of the upper limb	54332	GDAP1	OMIM:214400
HP:0002817	Abnormality of the upper limb	54332	GDAP1	OMIM:608340
HP:0002817	Abnormality of the upper limb	5376	PMP22	OMIM:118220
HP:0002817	Abnormality of the upper limb	5376	PMP22	OMIM:145900
HP:0002817	Abnormality of the upper limb	4747	NEFL	OMIM:607684
HP:0002817	Abnormality of the upper limb	3315	HSPB1	OMIM:606595
HP:0002817	Abnormality of the upper limb	4359	MPZ	OMIM:118200
HP:0002817	Abnormality of the upper limb	4359	MPZ	OMIM:145900
HP:0002817	Abnormality of the upper limb	1959	EGR2	OMIM:145900
HP:0002817	Abnormality of the upper limb	57716	PRX	OMIM:145900
HP:0002817	Abnormality of the upper limb	4358	MPV17	OMIM:618400
HP:0002817	Abnormality of the upper limb	81846	SBF2	OMIM:604563
HP:0002817	Abnormality of the upper limb	157570	ESCO2	OMIM:268300
HP:0002817	Abnormality of the upper limb	9401	RECQL4	ORPHA:1225
HP:0002817	Abnormality of the upper limb	25836	NIPBL	OMIM:122470
HP:0002817	Abnormality of the upper limb	6154	RPL26	OMIM:614900
HP:0002817	Abnormality of the upper limb	10262	SF3B4	ORPHA:1788
HP:0002817	Abnormality of the upper limb	1802	DPH2	OMIM:620062
HP:0002817	Abnormality of the upper limb	91949	COG7	OMIM:608779
HP:0002817	Abnormality of the upper limb	91949	COG7	ORPHA:79333
HP:0002817	Abnormality of the upper limb	27238	GPKOW	ORPHA:2570
HP:0002817	Abnormality of the upper limb	23141	ANKLE2	OMIM:616681
HP:0002817	Abnormality of the upper limb	29895	MYL11	OMIM:619110
HP:0002817	Abnormality of the upper limb	5393	EXOSC9	OMIM:618065
HP:0002817	Abnormality of the upper limb	55627	SMPD4	OMIM:618622
HP:0002817	Abnormality of the upper limb	6804	STX1A	ORPHA:904
HP:0002817	Abnormality of the upper limb	7461	CLIP2	ORPHA:904
HP:0002817	Abnormality of the upper limb	84277	DNAJC30	ORPHA:904
HP:0002817	Abnormality of the upper limb	8468	FKBP6	ORPHA:904
HP:0002817	Abnormality of the upper limb	5982	RFC2	ORPHA:904
HP:0002817	Abnormality of the upper limb	2969	GTF2I	ORPHA:904
HP:0002817	Abnormality of the upper limb	3984	LIMK1	ORPHA:904
HP:0002817	Abnormality of the upper limb	9569	GTF2IRD1	ORPHA:904
HP:0002817	Abnormality of the upper limb	155382	VPS37D	ORPHA:904
HP:0002817	Abnormality of the upper limb	155368	METTL27	ORPHA:904
HP:0002817	Abnormality of the upper limb	114049	BUD23	ORPHA:904
HP:0002817	Abnormality of the upper limb	7458	EIF4H	ORPHA:904
HP:0002817	Abnormality of the upper limb	84163	GTF2IRD2	ORPHA:904
HP:0002817	Abnormality of the upper limb	9275	BCL7B	ORPHA:904
HP:0002817	Abnormality of the upper limb	26608	TBL2	ORPHA:904
HP:0002817	Abnormality of the upper limb	653361	NCF1	ORPHA:904
HP:0002817	Abnormality of the upper limb	135886	TMEM270	ORPHA:904
HP:0002817	Abnormality of the upper limb	51085	MLXIPL	ORPHA:904
HP:0002817	Abnormality of the upper limb	9031	BAZ1B	ORPHA:904
HP:0002817	Abnormality of the upper limb	2006	ELN	ORPHA:904
HP:0002817	Abnormality of the upper limb	2006	ELN	ORPHA:90348
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	OMIM:616603
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	OMIM:219150
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	ORPHA:90348
HP:0002817	Abnormality of the upper limb	347734	SLC35B2	OMIM:620269
HP:0002817	Abnormality of the upper limb	84992	PIGY	OMIM:616809
HP:0002817	Abnormality of the upper limb	1291	COL6A1	ORPHA:75840
HP:0002817	Abnormality of the upper limb	1292	COL6A2	ORPHA:75840
HP:0002817	Abnormality of the upper limb	1293	COL6A3	ORPHA:75840
HP:0002817	Abnormality of the upper limb	9839	ZEB2	ORPHA:261537
HP:0002817	Abnormality of the upper limb	9839	ZEB2	ORPHA:261552
HP:0002817	Abnormality of the upper limb	215	ABCD1	ORPHA:388
HP:0002817	Abnormality of the upper limb	5979	RET	ORPHA:388
HP:0002817	Abnormality of the upper limb	2668	GDNF	ORPHA:388
HP:0002817	Abnormality of the upper limb	6720	SREBF1	ORPHA:388
HP:0002817	Abnormality of the upper limb	1908	EDN3	ORPHA:388
HP:0002817	Abnormality of the upper limb	223117	SEMA3D	ORPHA:388
HP:0002817	Abnormality of the upper limb	538	ATP7A	ORPHA:388
HP:0002817	Abnormality of the upper limb	1910	EDNRB	ORPHA:388
HP:0002817	Abnormality of the upper limb	10512	SEMA3C	ORPHA:388
HP:0002817	Abnormality of the upper limb	2064	ERBB2	ORPHA:388
HP:0002817	Abnormality of the upper limb	2065	ERBB3	ORPHA:388
HP:0002817	Abnormality of the upper limb	4902	NRTN	ORPHA:388
HP:0002817	Abnormality of the upper limb	10479	SLC9A6	OMIM:300243
HP:0002817	Abnormality of the upper limb	10479	SLC9A6	ORPHA:85278
HP:0002817	Abnormality of the upper limb	91754	NEK9	OMIM:617022
HP:0002817	Abnormality of the upper limb	5649	RELN	ORPHA:89844
HP:0002817	Abnormality of the upper limb	54820	NDE1	ORPHA:89844
HP:0002817	Abnormality of the upper limb	6472	SHMT2	OMIM:619121
HP:0002817	Abnormality of the upper limb	58	ACTA1	ORPHA:171430
HP:0002817	Abnormality of the upper limb	131377	KLHL40	ORPHA:171430
HP:0002817	Abnormality of the upper limb	10324	KLHL41	ORPHA:171430
HP:0002817	Abnormality of the upper limb	56203	LMOD3	ORPHA:171430
HP:0002817	Abnormality of the upper limb	26227	PHGDH	OMIM:601815
HP:0002817	Abnormality of the upper limb	26227	PHGDH	ORPHA:79351
HP:0002817	Abnormality of the upper limb	202018	TAPT1	OMIM:616897
HP:0002817	Abnormality of the upper limb	2201	FBN2	OMIM:121050
HP:0002817	Abnormality of the upper limb	91869	RFT1	OMIM:612015
HP:0002817	Abnormality of the upper limb	2033	EP300	ORPHA:353284
HP:0002817	Abnormality of the upper limb	4621	MYH3	OMIM:618436
HP:0002817	Abnormality of the upper limb	4621	MYH3	OMIM:193700
HP:0002817	Abnormality of the upper limb	4621	MYH3	ORPHA:1147
HP:0002817	Abnormality of the upper limb	4621	MYH3	ORPHA:1146
HP:0002817	Abnormality of the upper limb	388015	RTL1	ORPHA:96334
HP:0002817	Abnormality of the upper limb	8788	DLK1	ORPHA:96334
HP:0002817	Abnormality of the upper limb	55384	MEG3	ORPHA:96334
HP:0002817	Abnormality of the upper limb	2067	ERCC1	OMIM:610758
HP:0002817	Abnormality of the upper limb	9179	AP4M1	OMIM:612936
HP:0002817	Abnormality of the upper limb	126792	B3GALT6	ORPHA:536467
HP:0002817	Abnormality of the upper limb	50515	CHST11	OMIM:618167
HP:0002817	Abnormality of the upper limb	79868	ALG13	ORPHA:324422
HP:0002817	Abnormality of the upper limb	259232	NALCN	OMIM:616266
HP:0002817	Abnormality of the upper limb	259232	NALCN	ORPHA:1147
HP:0002817	Abnormality of the upper limb	259232	NALCN	ORPHA:1146
HP:0002817	Abnormality of the upper limb	23483	TGDS	OMIM:616145
HP:0002817	Abnormality of the upper limb	729920	CRPPA	OMIM:614643
HP:0002817	Abnormality of the upper limb	7136	TNNI2	ORPHA:1147
HP:0002817	Abnormality of the upper limb	7136	TNNI2	ORPHA:1146
HP:0002817	Abnormality of the upper limb	10273	STUB1	ORPHA:412057
HP:0002817	Abnormality of the upper limb	1387	CREBBP	ORPHA:353277
HP:0002817	Abnormality of the upper limb	4604	MYBPC1	ORPHA:1146
HP:0002817	Abnormality of the upper limb	10516	FBLN5	ORPHA:90348
HP:0002817	Abnormality of the upper limb	81857	MED25	ORPHA:464738
HP:0002817	Abnormality of the upper limb	57211	ADGRG6	OMIM:616503
HP:0002817	Abnormality of the upper limb	10195	ALG3	OMIM:601110
HP:0002817	Abnormality of the upper limb	10943	MSL3	OMIM:301032
HP:0002817	Abnormality of the upper limb	3977	LIFR	OMIM:601559
HP:0002817	Abnormality of the upper limb	9427	ECEL1	OMIM:615065
HP:0002817	Abnormality of the upper limb	6999	TDO2	OMIM:600627
HP:0002817	Abnormality of the upper limb	84896	ATAD1	OMIM:618011
HP:0002817	Abnormality of the upper limb	2036	EPB41L1	OMIM:614257
HP:0002817	Abnormality of the upper limb	51002	TPRKB	ORPHA:2065
HP:0002817	Abnormality of the upper limb	55644	OSGEP	ORPHA:2065
HP:0002817	Abnormality of the upper limb	57122	NUP107	ORPHA:2065
HP:0002817	Abnormality of the upper limb	10785	WDR4	ORPHA:2065
HP:0002817	Abnormality of the upper limb	55746	NUP133	ORPHA:2065
HP:0002817	Abnormality of the upper limb	8270	LAGE3	ORPHA:2065
HP:0002817	Abnormality of the upper limb	8367	H4C5	OMIM:619950
HP:0002817	Abnormality of the upper limb	9853	RUSC2	OMIM:617773
HP:0002817	Abnormality of the upper limb	23019	CNOT1	OMIM:619033
HP:0002817	Abnormality of the upper limb	26128	KIFBP	OMIM:609460
HP:0002817	Abnormality of the upper limb	2972	BRF1	OMIM:616202
HP:0002817	Abnormality of the upper limb	2972	BRF1	ORPHA:444072
HP:0002817	Abnormality of the upper limb	56916	SMARCAD1	OMIM:129200
HP:0002817	Abnormality of the upper limb	56916	SMARCAD1	OMIM:181600
HP:0002817	Abnormality of the upper limb	9578	CDC42BPB	OMIM:619841
HP:0002817	Abnormality of the upper limb	3020	H3-3A	OMIM:619720
HP:0002817	Abnormality of the upper limb	170302	ARX	OMIM:300004
HP:0002817	Abnormality of the upper limb	3021	H3-3B	OMIM:619721
HP:0002817	Abnormality of the upper limb	10300	KATNB1	OMIM:616212
HP:0002817	Abnormality of the upper limb	2624	GATA2	OMIM:614038
HP:0002817	Abnormality of the upper limb	55904	KMT2E	OMIM:618512
HP:0002817	Abnormality of the upper limb	10978	CLP1	OMIM:615803
HP:0002817	Abnormality of the upper limb	55650	PIGV	OMIM:239300
HP:0002817	Abnormality of the upper limb	6335	SCN9A	ORPHA:970
HP:0002817	Abnormality of the upper limb	65125	WNK1	ORPHA:970
HP:0002817	Abnormality of the upper limb	54463	RETREG1	ORPHA:970
HP:0002817	Abnormality of the upper limb	547	KIF1A	ORPHA:970
HP:0002817	Abnormality of the upper limb	547	KIF1A	ORPHA:2836
HP:0002817	Abnormality of the upper limb	6595	SMARCA2	OMIM:619293
HP:0002817	Abnormality of the upper limb	80204	FBXO11	OMIM:618089
HP:0002817	Abnormality of the upper limb	113189	CHST14	ORPHA:2953
HP:0002817	Abnormality of the upper limb	29940	DSE	ORPHA:2953
HP:0002817	Abnormality of the upper limb	1889	ECE1	OMIM:613870
HP:0002817	Abnormality of the upper limb	9326	ZNHIT3	ORPHA:2836
HP:0002817	Abnormality of the upper limb	9326	ZNHIT3	OMIM:260565
HP:0002817	Abnormality of the upper limb	2770	GNAI1	OMIM:619854
HP:0002817	Abnormality of the upper limb	157680	VPS13B	OMIM:216550
HP:0002817	Abnormality of the upper limb	157680	VPS13B	ORPHA:193
HP:0002817	Abnormality of the upper limb	2626	GATA4	ORPHA:251071
HP:0002817	Abnormality of the upper limb	84823	LMNB2	OMIM:619180
HP:0002817	Abnormality of the upper limb	9896	FIG4	ORPHA:3472
HP:0002817	Abnormality of the upper limb	9896	FIG4	OMIM:216340
HP:0002817	Abnormality of the upper limb	55697	VAC14	ORPHA:3472
HP:0002817	Abnormality of the upper limb	1656	DDX6	OMIM:618653
HP:0002817	Abnormality of the upper limb	4297	KMT2A	ORPHA:319182
HP:0002817	Abnormality of the upper limb	4297	KMT2A	OMIM:605130
HP:0002817	Abnormality of the upper limb	57178	ZMIZ1	OMIM:618659
HP:0002817	Abnormality of the upper limb	6792	CDKL5	OMIM:300672
HP:0002817	Abnormality of the upper limb	7025	NR2F1	ORPHA:401777
HP:0002817	Abnormality of the upper limb	7025	NR2F1	OMIM:615722
HP:0002817	Abnormality of the upper limb	253738	EBF3	OMIM:617330
HP:0002817	Abnormality of the upper limb	55699	IARS2	OMIM:616007
HP:0002817	Abnormality of the upper limb	8239	USP9X	ORPHA:480880
HP:0002817	Abnormality of the upper limb	8239	USP9X	OMIM:300968
HP:0002817	Abnormality of the upper limb	285175	UNC80	OMIM:616801
HP:0002817	Abnormality of the upper limb	79753	SNIP1	OMIM:614501
HP:0002817	Abnormality of the upper limb	6134	RPL10	ORPHA:459070
HP:0002817	Abnormality of the upper limb	6134	RPL10	OMIM:300998
HP:0002817	Abnormality of the upper limb	6134	RPL10	ORPHA:435938
HP:0002817	Abnormality of the upper limb	1859	DYRK1A	ORPHA:464311
HP:0002817	Abnormality of the upper limb	1859	DYRK1A	ORPHA:268261
HP:0002817	Abnormality of the upper limb	1303	COL12A1	ORPHA:536516
HP:0002817	Abnormality of the upper limb	51611	DPH5	OMIM:620070
HP:0002817	Abnormality of the upper limb	79813	EHMT1	ORPHA:261652
HP:0002817	Abnormality of the upper limb	58508	KMT2C	ORPHA:261652
HP:0002817	Abnormality of the upper limb	4094	MAF	ORPHA:1272
HP:0002817	Abnormality of the upper limb	4094	MAF	OMIM:601088
HP:0002817	Abnormality of the upper limb	7750	ZMYM2	OMIM:619522
HP:0002817	Abnormality of the upper limb	5594	MAPK1	OMIM:619087
HP:0002817	Abnormality of the upper limb	4849	CNOT3	OMIM:618672
HP:0002817	Abnormality of the upper limb	6942	TCF20	OMIM:618430
HP:0002817	Abnormality of the upper limb	81887	LAS1L	ORPHA:3459
HP:0002817	Abnormality of the upper limb	81887	LAS1L	OMIM:309585
HP:0002817	Abnormality of the upper limb	55869	HDAC8	ORPHA:3459
HP:0002817	Abnormality of the upper limb	7140	TNNT3	OMIM:618435
HP:0002817	Abnormality of the upper limb	6925	TCF4	OMIM:610954
HP:0002817	Abnormality of the upper limb	6925	TCF4	ORPHA:2896
HP:0002817	Abnormality of the upper limb	7030	TFE3	OMIM:301066
HP:0002817	Abnormality of the upper limb	546	ATRX	OMIM:309580
HP:0002817	Abnormality of the upper limb	546	ATRX	OMIM:301040
HP:0002817	Abnormality of the upper limb	84295	PHF6	ORPHA:127
HP:0002817	Abnormality of the upper limb	84295	PHF6	OMIM:301900
HP:0002817	Abnormality of the upper limb	91252	SLC39A13	ORPHA:157965
HP:0002817	Abnormality of the upper limb	91252	SLC39A13	OMIM:612350
HP:0002817	Abnormality of the upper limb	55023	PHIP	ORPHA:589905
HP:0002817	Abnormality of the upper limb	55023	PHIP	OMIM:617991
HP:0002817	Abnormality of the upper limb	9230	RAB11B	OMIM:617807
HP:0002817	Abnormality of the upper limb	389827	MYMK	OMIM:254940
HP:0002817	Abnormality of the upper limb	10075	HUWE1	OMIM:309590
HP:0002817	Abnormality of the upper limb	9488	PIGB	OMIM:618580
HP:0002817	Abnormality of the upper limb	8243	SMC1A	OMIM:301044
HP:0002817	Abnormality of the upper limb	23013	SPEN	OMIM:619312
HP:0002817	Abnormality of the upper limb	56896	DPYSL5	OMIM:619435
HP:0002817	Abnormality of the upper limb	9698	PUM1	OMIM:617931
HP:0002817	Abnormality of the upper limb	23394	ADNP	OMIM:615873
HP:0002817	Abnormality of the upper limb	23028	KDM1A	OMIM:616728
HP:0002817	Abnormality of the upper limb	23028	KDM1A	ORPHA:477993
HP:0002817	Abnormality of the upper limb	5575	PRKAR1B	OMIM:619680
HP:0002817	Abnormality of the upper limb	91179	SCARF2	OMIM:600920
HP:0002817	Abnormality of the upper limb	6492	SIM1	ORPHA:171829
HP:0002817	Abnormality of the upper limb	4953	ODC1	ORPHA:544488
HP:0002817	Abnormality of the upper limb	998	CDC42	OMIM:616737
HP:0002817	Abnormality of the upper limb	998	CDC42	ORPHA:487796
HP:0002817	Abnormality of the upper limb	3097	HIVEP2	OMIM:616977
HP:0002817	Abnormality of the upper limb	10982	MAPRE2	OMIM:616734
HP:0002817	Abnormality of the upper limb	4131	MAP1B	OMIM:618918
HP:0002817	Abnormality of the upper limb	56915	EXOSC5	OMIM:619576
HP:0002817	Abnormality of the upper limb	10588	MTHFS	OMIM:618367
HP:0002817	Abnormality of the upper limb	63035	BCORL1	OMIM:301029
HP:0002817	Abnormality of the upper limb	10265	IRX5	OMIM:611174
HP:0002817	Abnormality of the upper limb	1108	CHD4	OMIM:617159
HP:0002817	Abnormality of the upper limb	91137	SLC25A46	OMIM:616505
HP:0002817	Abnormality of the upper limb	8604	SLC25A12	OMIM:612949
HP:0002817	Abnormality of the upper limb	7703	PCGF2	OMIM:618371
HP:0002817	Abnormality of the upper limb	83696	TRAPPC9	ORPHA:352530
HP:0002817	Abnormality of the upper limb	92949	ADAMTSL1	ORPHA:521445
HP:0002817	Abnormality of the upper limb	54551	MAGEL2	OMIM:615547
HP:0002817	Abnormality of the upper limb	2707	GJB3	ORPHA:317
HP:0002817	Abnormality of the upper limb	2531	KDSR	ORPHA:317
HP:0002817	Abnormality of the upper limb	127534	GJB4	ORPHA:317
HP:0002817	Abnormality of the upper limb	9244	CRLF1	OMIM:272430
HP:0002817	Abnormality of the upper limb	8812	CCNK	OMIM:618147
HP:0002817	Abnormality of the upper limb	112858	TP53RK	OMIM:617730
HP:0002817	Abnormality of the upper limb	7204	TRIO	OMIM:618825
HP:0002817	Abnormality of the upper limb	7204	TRIO	OMIM:617061
HP:0002817	Abnormality of the upper limb	7204	TRIO	ORPHA:476126
HP:0002817	Abnormality of the upper limb	9894	TELO2	ORPHA:488642
HP:0002817	Abnormality of the upper limb	80036	TRPM3	OMIM:620224
HP:0002817	Abnormality of the upper limb	8936	WASF1	OMIM:618707
HP:0002817	Abnormality of the upper limb	8405	SPOP	OMIM:618829
HP:0002817	Abnormality of the upper limb	23630	KCNE5	ORPHA:86818
HP:0002817	Abnormality of the upper limb	2182	ACSL4	ORPHA:86818
HP:0002817	Abnormality of the upper limb	9949	AMMECR1	ORPHA:86818
HP:0002817	Abnormality of the upper limb	11198	SUPT16H	OMIM:619480
HP:0002817	Abnormality of the upper limb	23556	PIGN	ORPHA:280633
HP:0002817	Abnormality of the upper limb	23067	SETD1B	OMIM:619000
HP:0002817	Abnormality of the upper limb	23233	EXOC6B	OMIM:618395
HP:0002817	Abnormality of the upper limb	5075	PAX1	OMIM:615560
HP:0002817	Abnormality of the upper limb	55704	CCDC88A	OMIM:617507
HP:0002817	Abnormality of the upper limb	1376	CPT2	OMIM:608836
HP:0002817	Abnormality of the upper limb	1315	COPB1	OMIM:619255
HP:0002817	Abnormality of the upper limb	51317	PHF21A	OMIM:618725
HP:0002817	Abnormality of the upper limb	1968	EIF2S3	ORPHA:85282
HP:0002817	Abnormality of the upper limb	5557	PRIM1	OMIM:620005
HP:0002817	Abnormality of the upper limb	1795	DOCK3	OMIM:618292
HP:0002817	Abnormality of the upper limb	3636	INPPL1	ORPHA:2746
HP:0002817	Abnormality of the upper limb	11342	RNF13	ORPHA:544503
HP:0002817	Abnormality of the upper limb	9990	SLC12A6	OMIM:218000
HP:0002817	Abnormality of the upper limb	9791	PTDSS1	OMIM:151050
HP:0002817	Abnormality of the upper limb	9759	HDAC4	OMIM:619797
HP:0002817	Abnormality of the upper limb	3756	KCNH1	OMIM:135500
HP:0002817	Abnormality of the upper limb	57479	PRR12	OMIM:619539
HP:0002817	Abnormality of the upper limb	6611	SMS	OMIM:309583
HP:0002817	Abnormality of the upper limb	673	BRAF	OMIM:115150
HP:0002817	Abnormality of the upper limb	91461	PKDCC	OMIM:618821
HP:0002817	Abnormality of the upper limb	92344	GORAB	OMIM:231070
HP:0002817	Abnormality of the upper limb	54499	TMCO1	OMIM:213980
HP:0002817	Abnormality of the upper limb	387733	IFITM5	OMIM:610967
HP:0002817	Abnormality of the upper limb	51633	OTUD6B	ORPHA:505237
HP:0002817	Abnormality of the upper limb	23114	NFASC	OMIM:618356
HP:0002817	Abnormality of the upper limb	1289	COL5A1	OMIM:130000
HP:0002817	Abnormality of the upper limb	1278	COL1A2	OMIM:617821
HP:0002817	Abnormality of the upper limb	427	ASAH1	OMIM:228000
HP:0002817	Abnormality of the upper limb	9373	PLAA	ORPHA:521426
HP:0002817	Abnormality of the upper limb	2783	GNB2	OMIM:619503
HP:0002817	Abnormality of the upper limb	3265	HRAS	OMIM:218040
HP:0002817	Abnormality of the upper limb	121340	SP7	OMIM:613849
HP:0002817	Abnormality of the upper limb	7169	TPM2	OMIM:108120
HP:0002817	Abnormality of the upper limb	3187	HNRNPH1	OMIM:620083
HP:0002817	Abnormality of the upper limb	8506	CNTNAP1	OMIM:618186
HP:0002817	Abnormality of the upper limb	1020	CDK5	OMIM:616342
HP:0002817	Abnormality of the upper limb	56006	SMG9	OMIM:616920
HP:0002817	Abnormality of the upper limb	2733	GLE1	OMIM:611890
HP:0002817	Abnormality of the upper limb	1861	TOR1A	OMIM:618947
HP:0002817	Abnormality of the upper limb	55681	SCYL2	OMIM:618766
HP:0002817	Abnormality of the upper limb	84942	WDR73	OMIM:251300
HP:0002817	Abnormality of the upper limb	7841	MOGS	OMIM:606056
HP:0002817	Abnormality of the upper limb	4703	NEB	OMIM:256030
HP:0002817	Abnormality of the upper limb	23345	SYNE1	ORPHA:319332
HP:0002817	Abnormality of the upper limb	23299	BICD2	OMIM:618291
HP:0002817	Abnormality of the upper limb	2317	FLNB	ORPHA:56305
HP:0002817	Abnormality of the upper limb	2898	GRIK2	OMIM:619580
HP:0002817	Abnormality of the upper limb	57498	KIDINS220	OMIM:619501
HP:0002817	Abnormality of the upper limb	80816	ASXL3	OMIM:615485
HP:0002817	Abnormality of the upper limb	6536	SLC6A9	OMIM:617301
HP:0002817	Abnormality of the upper limb	51741	WWOX	OMIM:616211
HP:0002817	Abnormality of the upper limb	84162	BLTP1	OMIM:617822
HP:0002817	Abnormality of the upper limb	667	DST	OMIM:614653
HP:0002817	Abnormality of the upper limb	2782	GNB1	OMIM:616973
HP:0002817	Abnormality of the upper limb	3897	L1CAM	ORPHA:2466
HP:0002817	Abnormality of the upper limb	529	ATP6V1E1	OMIM:617402
HP:0002817	Abnormality of the upper limb	4654	MYOD1	OMIM:618975
HP:0002817	Abnormality of the upper limb	54676	GTPBP2	OMIM:617988
HP:0002817	Abnormality of the upper limb	4137	MAPT	ORPHA:240103
HP:0002817	Abnormality of the upper limb	10716	TBR1	ORPHA:1617
HP:0002817	Abnormality of the upper limb	3736	KCNA1	ORPHA:37612
HP:0002817	Abnormality of the upper limb	2131	EXT1	ORPHA:321
HP:0002817	Abnormality of the upper limb	4488	MSX2	OMIM:604757
HP:0002817	Abnormality of the upper limb	3782	KCNN3	OMIM:618658
HP:0002817	Abnormality of the upper limb	5063	PAK3	OMIM:300558
HP:0002817	Abnormality of the upper limb	23065	EMC1	ORPHA:480898
HP:0002817	Abnormality of the upper limb	23065	EMC1	OMIM:616875
HP:0002817	Abnormality of the upper limb	1105	CHD1	OMIM:617682
HP:0002817	Abnormality of the upper limb	8720	MBTPS1	OMIM:618392
HP:0002817	Abnormality of the upper limb	55325	UFSP2	OMIM:617974
HP:0002817	Abnormality of the upper limb	7317	UBA1	ORPHA:1145
HP:0002817	Abnormality of the upper limb	2720	GLB1	ORPHA:79255
HP:0002817	Abnormality of the upper limb	3955	LFNG	OMIM:609813
HP:0002817	Abnormality of the upper limb	10525	HYOU1	OMIM:233600
HP:0002817	Abnormality of the upper limb	93587	TRMT10A	ORPHA:391408
HP:0002817	Abnormality of the upper limb	84919	PPP1R15B	ORPHA:391408
HP:0002817	Abnormality of the upper limb	84570	COL25A1	ORPHA:1143
HP:0002817	Abnormality of the upper limb	57222	ERGIC1	ORPHA:1143
HP:0002817	Abnormality of the upper limb	8449	DHX16	OMIM:618733
HP:0002817	Abnormality of the upper limb	1311	COMP	ORPHA:750
HP:0002817	Abnormality of the upper limb	1311	COMP	OMIM:177170
HP:0002817	Abnormality of the upper limb	4322	MMP13	OMIM:602111
HP:0002817	Abnormality of the upper limb	6424	SFRP4	OMIM:265900
HP:0002817	Abnormality of the upper limb	6023	RMRP	OMIM:250250
HP:0002817	Abnormality of the upper limb	6023	RMRP	ORPHA:175
HP:0002817	Abnormality of the upper limb	6023	RMRP	OMIM:607095
HP:0002817	Abnormality of the upper limb	10060	ABCC9	OMIM:619719
HP:0002817	Abnormality of the upper limb	4148	MATN3	OMIM:608728
HP:0002817	Abnormality of the upper limb	4148	MATN3	ORPHA:156728
HP:0002817	Abnormality of the upper limb	54928	BPNT2	OMIM:614078
HP:0002817	Abnormality of the upper limb	83737	ITCH	OMIM:613385
HP:0002817	Abnormality of the upper limb	1299	COL9A3	OMIM:600969
HP:0002817	Abnormality of the upper limb	23529	CLCF1	OMIM:610313
HP:0002817	Abnormality of the upper limb	10082	GPC6	OMIM:258315
HP:0002817	Abnormality of the upper limb	83452	RAB33B	OMIM:615222
HP:0002817	Abnormality of the upper limb	1499	CTNNB1	OMIM:615075
HP:0002817	Abnormality of the upper limb	9181	ARHGEF2	OMIM:617523
HP:0002817	Abnormality of the upper limb	93627	TBCK	ORPHA:488632
HP:0002817	Abnormality of the upper limb	93627	TBCK	OMIM:616900
HP:0002817	Abnormality of the upper limb	9091	PIGQ	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2775	GNAO1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	81603	TRIM8	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2902	GRIN1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	79751	SLC25A22	ORPHA:1934
HP:0002817	Abnormality of the upper limb	150094	SIK1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	8573	CASK	ORPHA:1934
HP:0002817	Abnormality of the upper limb	23312	DMXL2	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2917	GRM7	ORPHA:1934
HP:0002817	Abnormality of the upper limb	11284	PNKP	ORPHA:1934
HP:0002817	Abnormality of the upper limb	6326	SCN2A	ORPHA:1934
HP:0002817	Abnormality of the upper limb	51227	PIGP	ORPHA:1934
HP:0002817	Abnormality of the upper limb	6324	SCN1B	ORPHA:1934
HP:0002817	Abnormality of the upper limb	4761	NEUROD2	ORPHA:1934
HP:0002817	Abnormality of the upper limb	11146	GLMN	ORPHA:83454
HP:0002817	Abnormality of the upper limb	5921	RASA1	ORPHA:90307
HP:0002817	Abnormality of the upper limb	2776	GNAQ	ORPHA:624
HP:0002817	Abnormality of the upper limb	57562	CEP126	ORPHA:65684
HP:0002817	Abnormality of the upper limb	2767	GNA11	ORPHA:1556
HP:0002817	Abnormality of the upper limb	151188	ARL6IP6	ORPHA:1556
HP:0002817	Abnormality of the upper limb	54361	WNT4	ORPHA:247768
HP:0002817	Abnormality of the upper limb	10940	POP1	OMIM:617396
HP:0002817	Abnormality of the upper limb	92255	LMBRD2	OMIM:619694
HP:0002817	Abnormality of the upper limb	23395	LARS2	OMIM:615300
HP:0002817	Abnormality of the upper limb	28981	IFT81	OMIM:617895
HP:0002817	Abnormality of the upper limb	8074	FGF23	OMIM:617993
HP:0002817	Abnormality of the upper limb	5352	PLOD2	OMIM:609220
HP:0002817	Abnormality of the upper limb	5831	PYCR1	OMIM:614438
HP:0002817	Abnormality of the upper limb	127833	SYT2	OMIM:619461
HP:0002817	Abnormality of the upper limb	54681	P4HTM	OMIM:618493
HP:0002817	Abnormality of the upper limb	4632	MYL1	OMIM:618414
HP:0002817	Abnormality of the upper limb	9051	PSTPIP1	OMIM:604416
HP:0002817	Abnormality of the upper limb	84065	TMEM222	OMIM:619470
HP:0002817	Abnormality of the upper limb	2222	FDFT1	OMIM:618156
HP:0002817	Abnormality of the upper limb	64116	SLC39A8	ORPHA:468699
HP:0002817	Abnormality of the upper limb	7421	VDR	OMIM:277440
HP:0002817	Abnormality of the upper limb	120227	CYP2R1	OMIM:600081
HP:0002817	Abnormality of the upper limb	120227	CYP2R1	ORPHA:289157
HP:0002817	Abnormality of the upper limb	1594	CYP27B1	OMIM:264700
HP:0002817	Abnormality of the upper limb	1594	CYP27B1	ORPHA:289157
HP:0002817	Abnormality of the upper limb	1184	CLCN5	OMIM:300554
HP:0002817	Abnormality of the upper limb	1184	CLCN5	OMIM:300009
HP:0002817	Abnormality of the upper limb	1758	DMP1	ORPHA:289176
HP:0002817	Abnormality of the upper limb	142680	SLC34A3	OMIM:241530
HP:0002817	Abnormality of the upper limb	1723	DHODH	OMIM:263750
HP:0002817	Abnormality of the upper limb	1723	DHODH	ORPHA:246
HP:0002817	Abnormality of the upper limb	567	B2M	OMIM:241600
HP:0002817	Abnormality of the upper limb	5881	RAC3	OMIM:618577
HP:0002817	Abnormality of the upper limb	3899	AFF3	OMIM:619297
HP:0002817	Abnormality of the upper limb	1290	COL5A2	ORPHA:287
HP:0002817	Abnormality of the upper limb	341208	HEPHL1	OMIM:261990
HP:0002817	Abnormality of the upper limb	2617	GARS1	OMIM:600794
HP:0002817	Abnormality of the upper limb	2617	GARS1	ORPHA:139536
HP:0002817	Abnormality of the upper limb	2617	GARS1	OMIM:601472
HP:0002817	Abnormality of the upper limb	8985	PLOD3	OMIM:612394
HP:0002817	Abnormality of the upper limb	8884	SLC5A6	OMIM:619903
HP:0002817	Abnormality of the upper limb	5165	PDK3	ORPHA:352675
HP:0002817	Abnormality of the upper limb	65055	REEP1	OMIM:614751
HP:0002817	Abnormality of the upper limb	65055	REEP1	ORPHA:139536
HP:0002817	Abnormality of the upper limb	3710	ITPR3	OMIM:620111
HP:0002817	Abnormality of the upper limb	3425	IDUA	OMIM:607015
HP:0002817	Abnormality of the upper limb	80208	SPG11	OMIM:604360
HP:0002817	Abnormality of the upper limb	8729	GBF1	OMIM:606483
HP:0002817	Abnormality of the upper limb	291	SLC25A4	ORPHA:254892
HP:0002817	Abnormality of the upper limb	56652	TWNK	ORPHA:254892
HP:0002817	Abnormality of the upper limb	11232	POLG2	ORPHA:254892
HP:0002817	Abnormality of the upper limb	7273	TTN	OMIM:603689
HP:0002817	Abnormality of the upper limb	1410	CRYAB	OMIM:608810
HP:0002817	Abnormality of the upper limb	79147	FKRP	OMIM:606612
HP:0002817	Abnormality of the upper limb	79147	FKRP	ORPHA:34515
HP:0002817	Abnormality of the upper limb	79147	FKRP	OMIM:607155
HP:0002817	Abnormality of the upper limb	2483	FRG1	OMIM:158900
HP:0002817	Abnormality of the upper limb	55791	LRIF1	OMIM:619477
HP:0002817	Abnormality of the upper limb	4625	MYH7	ORPHA:437572
HP:0002817	Abnormality of the upper limb	4625	MYH7	OMIM:608358
HP:0002817	Abnormality of the upper limb	1763	DNA2	OMIM:615156
HP:0002817	Abnormality of the upper limb	51099	ABHD5	ORPHA:98907
HP:0002817	Abnormality of the upper limb	9782	MATR3	OMIM:606070
HP:0002817	Abnormality of the upper limb	9782	MATR3	ORPHA:600
HP:0002817	Abnormality of the upper limb	57104	PNPLA2	ORPHA:98908
HP:0002817	Abnormality of the upper limb	6261	RYR1	ORPHA:98905
HP:0002817	Abnormality of the upper limb	7415	VCP	OMIM:167320
HP:0002817	Abnormality of the upper limb	1073	CFL2	OMIM:610687
HP:0002817	Abnormality of the upper limb	2581	GALC	ORPHA:206436
HP:0002817	Abnormality of the upper limb	5660	PSAP	ORPHA:206436
HP:0002817	Abnormality of the upper limb	4556	MT-TE	ORPHA:2596
HP:0002817	Abnormality of the upper limb	6606	SMN1	OMIM:253400
HP:0002817	Abnormality of the upper limb	6607	SMN2	OMIM:253400
HP:0002817	Abnormality of the upper limb	10020	GNE	ORPHA:602
HP:0002817	Abnormality of the upper limb	10049	DNAJB6	OMIM:603511
HP:0002817	Abnormality of the upper limb	9499	MYOT	ORPHA:266
HP:0002817	Abnormality of the upper limb	57190	SELENON	ORPHA:2020
HP:0002817	Abnormality of the upper limb	4633	MYL2	ORPHA:2020
HP:0002817	Abnormality of the upper limb	3679	ITGA7	ORPHA:2020
HP:0002817	Abnormality of the upper limb	9200	HACD1	ORPHA:2020
HP:0002817	Abnormality of the upper limb	7170	TPM3	ORPHA:2020
HP:0002817	Abnormality of the upper limb	2992	GYG1	ORPHA:263297
HP:0002817	Abnormality of the upper limb	2992	GYG1	OMIM:616199
HP:0002817	Abnormality of the upper limb	8291	DYSF	ORPHA:45448
HP:0002817	Abnormality of the upper limb	23534	TNPO3	OMIM:608423
HP:0002817	Abnormality of the upper limb	203859	ANO5	OMIM:611307
HP:0002817	Abnormality of the upper limb	9987	HNRNPDL	OMIM:609115
HP:0002817	Abnormality of the upper limb	6329	SCN4A	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1134	CHRNA1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	4038	LRP4	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1305	COL13A1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1140	CHRNB1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1144	CHRND	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1145	CHRNE	ORPHA:98913
HP:0002817	Abnormality of the upper limb	4593	MUSK	ORPHA:98913
HP:0002817	Abnormality of the upper limb	5913	RAPSN	ORPHA:98913
HP:0002817	Abnormality of the upper limb	375790	AGRN	ORPHA:98913
HP:0002817	Abnormality of the upper limb	221264	AK9	ORPHA:98913
HP:0002817	Abnormality of the upper limb	285489	DOK7	ORPHA:98913
HP:0002817	Abnormality of the upper limb	79912	PYROXD1	OMIM:617258
HP:0002817	Abnormality of the upper limb	6442	SGCA	OMIM:608099
HP:0002817	Abnormality of the upper limb	6442	SGCA	ORPHA:62
HP:0002817	Abnormality of the upper limb	6443	SGCB	OMIM:604286
HP:0002817	Abnormality of the upper limb	25778	DSTYK	OMIM:270750
HP:0002817	Abnormality of the upper limb	29925	GMPPB	ORPHA:353327
HP:0002817	Abnormality of the upper limb	2673	GFPT1	ORPHA:353327
HP:0002817	Abnormality of the upper limb	85365	ALG2	ORPHA:353327
HP:0002817	Abnormality of the upper limb	85365	ALG2	OMIM:616228
HP:0002817	Abnormality of the upper limb	4976	OPA1	ORPHA:98673
HP:0002817	Abnormality of the upper limb	6444	SGCD	OMIM:601287
HP:0002817	Abnormality of the upper limb	6444	SGCD	ORPHA:219
HP:0002817	Abnormality of the upper limb	23347	SMCHD1	OMIM:158901
HP:0002817	Abnormality of the upper limb	55870	ASH1L	OMIM:617796
HP:0002817	Abnormality of the upper limb	64856	VWA1	OMIM:619216
HP:0002817	Abnormality of the upper limb	311	ANXA11	OMIM:619733
HP:0002817	Abnormality of the upper limb	2138	EYA1	ORPHA:2792
HP:0002817	Abnormality of the upper limb	2138	EYA1	OMIM:166780
HP:0002817	Abnormality of the upper limb	4620	MYH2	OMIM:605637
HP:0002817	Abnormality of the upper limb	80324	PUS1	OMIM:600462
HP:0002817	Abnormality of the upper limb	83636	C19orf12	OMIM:614298
HP:0002817	Abnormality of the upper limb	9531	BAG3	OMIM:612954
HP:0002817	Abnormality of the upper limb	6445	SGCG	ORPHA:353
HP:0002817	Abnormality of the upper limb	84665	MYPN	OMIM:617336
HP:0002817	Abnormality of the upper limb	84665	MYPN	ORPHA:171439
HP:0002817	Abnormality of the upper limb	10220	GDF11	OMIM:619122
HP:0002817	Abnormality of the upper limb	163175	LGI4	OMIM:617468
HP:0002817	Abnormality of the upper limb	11117	EMILIN1	OMIM:620080
HP:0002817	Abnormality of the upper limb	390594	KBTBD13	ORPHA:171439
HP:0002817	Abnormality of the upper limb	2010	EMD	ORPHA:98863
HP:0002817	Abnormality of the upper limb	29954	POMT2	ORPHA:206559
HP:0002817	Abnormality of the upper limb	23676	SMPX	OMIM:301075
HP:0002817	Abnormality of the upper limb	10801	SEPTIN9	ORPHA:2901
HP:0002817	Abnormality of the upper limb	23224	SYNE2	OMIM:612999
HP:0002817	Abnormality of the upper limb	23224	SYNE2	ORPHA:98853
HP:0002817	Abnormality of the upper limb	79188	TMEM43	ORPHA:98853
HP:0002817	Abnormality of the upper limb	6137	RPL13	OMIM:618728
HP:0002817	Abnormality of the upper limb	5251	PHEX	ORPHA:89936
HP:0002817	Abnormality of the upper limb	90993	CREB3L1	OMIM:616229
HP:0002817	Abnormality of the upper limb	6678	SPARC	OMIM:616507
HP:0002817	Abnormality of the upper limb	26175	LYSET	OMIM:619345
HP:0002817	Abnormality of the upper limb	2778	GNAS	ORPHA:94089
HP:0002817	Abnormality of the upper limb	8675	STX16	ORPHA:94089
HP:0002817	Abnormality of the upper limb	10216	PRG4	ORPHA:2848
HP:0002817	Abnormality of the upper limb	368	ABCC6	ORPHA:51608
HP:0002817	Abnormality of the upper limb	22858	CILK1	OMIM:612651
HP:0002817	Abnormality of the upper limb	8792	TNFRSF11A	OMIM:602080
HP:0002817	Abnormality of the upper limb	1836	SLC26A2	ORPHA:93307
HP:0002817	Abnormality of the upper limb	4318	MMP9	ORPHA:1040
HP:0002817	Abnormality of the upper limb	64682	ANAPC1	ORPHA:221008
HP:0002817	Abnormality of the upper limb	1300	COL10A1	ORPHA:174
HP:0002817	Abnormality of the upper limb	8517	IKBKG	ORPHA:464
HP:0002817	Abnormality of the upper limb	3909	LAMA3	ORPHA:79404
HP:0002817	Abnormality of the upper limb	3918	LAMC2	ORPHA:79404
HP:0002817	Abnormality of the upper limb	3914	LAMB3	ORPHA:79404
HP:0002817	Abnormality of the upper limb	1308	COL17A1	ORPHA:79406
HP:0002817	Abnormality of the upper limb	1308	COL17A1	ORPHA:251393
HP:0002817	Abnormality of the upper limb	4312	MMP1	ORPHA:79408
HP:0002817	Abnormality of the upper limb	4312	MMP1	OMIM:226600
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:79408
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:79409
HP:0002817	Abnormality of the upper limb	1294	COL7A1	OMIM:226600
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:79410
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:79411
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:89842
HP:0002817	Abnormality of the upper limb	3691	ITGB4	ORPHA:251393
HP:0002817	Abnormality of the upper limb	54809	SAMD9	OMIM:617053
HP:0002817	Abnormality of the upper limb	11253	MAN1B1	ORPHA:397941
HP:0002817	Abnormality of the upper limb	11253	MAN1B1	OMIM:614202
HP:0002817	Abnormality of the upper limb	340533	NEXMIF	OMIM:300912
HP:0002817	Abnormality of the upper limb	1139	CHRNA7	ORPHA:199318
HP:0002817	Abnormality of the upper limb	1139	CHRNA7	OMIM:612001
HP:0002817	Abnormality of the upper limb	2132	EXT2	OMIM:616682
HP:0002817	Abnormality of the upper limb	6659	SOX4	OMIM:618506
HP:0002817	Abnormality of the upper limb	1947	EFNB1	ORPHA:1520
HP:0002817	Abnormality of the upper limb	1947	EFNB1	OMIM:304110
HP:0002817	Abnormality of the upper limb	4010	LMX1B	ORPHA:2614
HP:0002817	Abnormality of the upper limb	4010	LMX1B	OMIM:161200
HP:0002817	Abnormality of the upper limb	10054	UBA2	OMIM:619959
HP:0002817	Abnormality of the upper limb	51126	NAA20	OMIM:619717
HP:0002817	Abnormality of the upper limb	9820	CUL7	ORPHA:2616
HP:0002817	Abnormality of the upper limb	9820	CUL7	OMIM:273750
HP:0002817	Abnormality of the upper limb	23363	OBSL1	ORPHA:2616
HP:0002817	Abnormality of the upper limb	83987	CCDC8	ORPHA:2616
HP:0002817	Abnormality of the upper limb	83987	CCDC8	OMIM:614205
HP:0002817	Abnormality of the upper limb	7021	TFAP2B	OMIM:169100
HP:0002817	Abnormality of the upper limb	7021	TFAP2B	ORPHA:46627
HP:0002817	Abnormality of the upper limb	7021	TFAP2B	OMIM:617035
HP:0002817	Abnormality of the upper limb	3481	IGF2	ORPHA:231140
HP:0002817	Abnormality of the upper limb	3481	IGF2	ORPHA:231144
HP:0002817	Abnormality of the upper limb	3481	IGF2	OMIM:616489
HP:0002817	Abnormality of the upper limb	3481	IGF2	OMIM:180860
HP:0002817	Abnormality of the upper limb	3481	IGF2	ORPHA:397590
HP:0002817	Abnormality of the upper limb	283120	H19	ORPHA:231140
HP:0002817	Abnormality of the upper limb	283120	H19	ORPHA:231144
HP:0002817	Abnormality of the upper limb	197131	UBR1	OMIM:243800
HP:0002817	Abnormality of the upper limb	4286	MITF	OMIM:617306
HP:0002817	Abnormality of the upper limb	112752	IFT43	ORPHA:1515
HP:0002817	Abnormality of the upper limb	51098	IFT52	ORPHA:1515
HP:0002817	Abnormality of the upper limb	55764	IFT122	ORPHA:1515
HP:0002817	Abnormality of the upper limb	57728	WDR19	ORPHA:1515
HP:0002817	Abnormality of the upper limb	55636	CHD7	ORPHA:138
HP:0002817	Abnormality of the upper limb	9723	SEMA3E	ORPHA:138
HP:0002817	Abnormality of the upper limb	90	ACVR1	OMIM:135100
HP:0002817	Abnormality of the upper limb	90	ACVR1	ORPHA:337
HP:0002817	Abnormality of the upper limb	3190	HNRNPK	OMIM:616580
HP:0002817	Abnormality of the upper limb	10606	PAICS	OMIM:619859
HP:0002817	Abnormality of the upper limb	1009	CDH11	OMIM:619736
HP:0002817	Abnormality of the upper limb	652	BMP4	OMIM:607932
HP:0002817	Abnormality of the upper limb	1301	COL11A1	OMIM:228520
HP:0002817	Abnormality of the upper limb	1301	COL11A1	OMIM:154780
HP:0002817	Abnormality of the upper limb	23327	NEDD4L	OMIM:617201
HP:0002817	Abnormality of the upper limb	7291	TWIST1	OMIM:101400
HP:0002817	Abnormality of the upper limb	7291	TWIST1	ORPHA:794
HP:0002817	Abnormality of the upper limb	3981	LIG4	ORPHA:235
HP:0002817	Abnormality of the upper limb	3981	LIG4	ORPHA:99812
HP:0002817	Abnormality of the upper limb	3981	LIG4	OMIM:606593
HP:0002817	Abnormality of the upper limb	54888	NSUN2	ORPHA:235
HP:0002817	Abnormality of the upper limb	1182	CLCN3	OMIM:619512
HP:0002817	Abnormality of the upper limb	85301	COL27A1	OMIM:615155
HP:0002817	Abnormality of the upper limb	5048	PAFAH1B1	ORPHA:217385
HP:0002817	Abnormality of the upper limb	5048	PAFAH1B1	ORPHA:531
HP:0002817	Abnormality of the upper limb	7531	YWHAE	ORPHA:217385
HP:0002817	Abnormality of the upper limb	7531	YWHAE	ORPHA:531
HP:0002817	Abnormality of the upper limb	2121	EVC	OMIM:193530
HP:0002817	Abnormality of the upper limb	2121	EVC	ORPHA:952
HP:0002817	Abnormality of the upper limb	132884	EVC2	OMIM:193530
HP:0002817	Abnormality of the upper limb	132884	EVC2	ORPHA:952
HP:0002817	Abnormality of the upper limb	8364	H4C3	OMIM:619758
HP:0002817	Abnormality of the upper limb	5590	PRKCZ	ORPHA:1606
HP:0002817	Abnormality of the upper limb	2563	GABRD	ORPHA:1606
HP:0002817	Abnormality of the upper limb	8510	MMP23B	ORPHA:1606
HP:0002817	Abnormality of the upper limb	7798	LUZP1	ORPHA:1606
HP:0002817	Abnormality of the upper limb	6497	SKI	ORPHA:1606
HP:0002817	Abnormality of the upper limb	10630	PDPN	ORPHA:1606
HP:0002817	Abnormality of the upper limb	3339	HSPG2	ORPHA:1606
HP:0002817	Abnormality of the upper limb	10277	UBE4B	ORPHA:1606
HP:0002817	Abnormality of the upper limb	8514	KCNAB2	ORPHA:1606
HP:0002817	Abnormality of the upper limb	473	RERE	ORPHA:1606
HP:0002817	Abnormality of the upper limb	473	RERE	OMIM:616975
HP:0002817	Abnormality of the upper limb	63976	PRDM16	ORPHA:1606
HP:0002817	Abnormality of the upper limb	54897	CASZ1	ORPHA:1606
HP:0002817	Abnormality of the upper limb	641	BLM	OMIM:210900
HP:0002817	Abnormality of the upper limb	57492	ARID1B	ORPHA:251056
HP:0002817	Abnormality of the upper limb	57492	ARID1B	OMIM:135900
HP:0002817	Abnormality of the upper limb	63895	PIEZO2	ORPHA:376
HP:0002817	Abnormality of the upper limb	23314	SATB2	ORPHA:576283
HP:0002817	Abnormality of the upper limb	23314	SATB2	ORPHA:251028
HP:0002817	Abnormality of the upper limb	23314	SATB2	ORPHA:251019
HP:0002817	Abnormality of the upper limb	23162	MAPK8IP3	OMIM:618443
HP:0002817	Abnormality of the upper limb	79087	ALG12	ORPHA:79324
HP:0002817	Abnormality of the upper limb	6473	SHOX	ORPHA:240
HP:0002817	Abnormality of the upper limb	26100	WIPI2	OMIM:618453
HP:0002817	Abnormality of the upper limb	10533	ATG7	OMIM:619422
HP:0002817	Abnormality of the upper limb	8295	TRRAP	OMIM:618454
HP:0002817	Abnormality of the upper limb	9742	IFT140	OMIM:266920
HP:0002817	Abnormality of the upper limb	7227	TRPS1	ORPHA:77258
HP:0002817	Abnormality of the upper limb	3479	IGF1	ORPHA:73272
HP:0002817	Abnormality of the upper limb	3479	IGF1	OMIM:608747
HP:0002817	Abnormality of the upper limb	650	BMP2	OMIM:112600
HP:0002817	Abnormality of the upper limb	650	BMP2	ORPHA:93396
HP:0002817	Abnormality of the upper limb	650	BMP2	OMIM:617877
HP:0002817	Abnormality of the upper limb	6477	SIAH1	OMIM:619314
HP:0002817	Abnormality of the upper limb	8473	OGT	OMIM:300997
HP:0002817	Abnormality of the upper limb	1798	DPAGT1	OMIM:608093
HP:0002817	Abnormality of the upper limb	117581	TWIST2	OMIM:200110
HP:0002817	Abnormality of the upper limb	117581	TWIST2	OMIM:209885
HP:0002817	Abnormality of the upper limb	23030	KDM4B	OMIM:619320
HP:0002817	Abnormality of the upper limb	9126	SMC3	OMIM:610759
HP:0002817	Abnormality of the upper limb	9126	SMC3	ORPHA:199
HP:0002817	Abnormality of the upper limb	1725	DHPS	OMIM:618480
HP:0002817	Abnormality of the upper limb	55777	MBD5	OMIM:156200
HP:0002817	Abnormality of the upper limb	55777	MBD5	ORPHA:228402
HP:0002817	Abnormality of the upper limb	5980	REV3L	ORPHA:570
HP:0002817	Abnormality of the upper limb	23129	PLXND1	ORPHA:570
HP:0002817	Abnormality of the upper limb	4784	NFIX	OMIM:602535
HP:0002817	Abnormality of the upper limb	4998	ORC1	OMIM:224690
HP:0002817	Abnormality of the upper limb	4998	ORC1	ORPHA:2554
HP:0002817	Abnormality of the upper limb	4052	LTBP1	OMIM:619451
HP:0002817	Abnormality of the upper limb	8260	NAA10	OMIM:300855
HP:0002817	Abnormality of the upper limb	8260	NAA10	ORPHA:568
HP:0002817	Abnormality of the upper limb	9496	TBX4	ORPHA:261279
HP:0002817	Abnormality of the upper limb	8091	HMGA2	ORPHA:94063
HP:0002817	Abnormality of the upper limb	8091	HMGA2	ORPHA:397590
HP:0002817	Abnormality of the upper limb	23592	LEMD3	ORPHA:94063
HP:0002817	Abnormality of the upper limb	164	AP1G1	OMIM:619467
HP:0002817	Abnormality of the upper limb	5283	PIGH	OMIM:618010
HP:0002817	Abnormality of the upper limb	50801	KCNK4	OMIM:618381
HP:0002817	Abnormality of the upper limb	9757	KMT2B	ORPHA:589618
HP:0002817	Abnormality of the upper limb	4613	MYCN	ORPHA:391641
HP:0002817	Abnormality of the upper limb	57003	CCDC47	OMIM:618268
HP:0002817	Abnormality of the upper limb	5977	DPF2	OMIM:618027
HP:0002817	Abnormality of the upper limb	94005	PIGS	OMIM:618143
HP:0002817	Abnormality of the upper limb	92002	CCNQ	OMIM:300707
HP:0002817	Abnormality of the upper limb	92002	CCNQ	ORPHA:140952
HP:0002817	Abnormality of the upper limb	285590	SH3PXD2B	ORPHA:137834
HP:0002817	Abnormality of the upper limb	526	ATP6V1B2	ORPHA:79500
HP:0002817	Abnormality of the upper limb	57465	TBC1D24	ORPHA:79500
HP:0002817	Abnormality of the upper limb	57465	TBC1D24	OMIM:220500
HP:0002817	Abnormality of the upper limb	5728	PTEN	ORPHA:744
HP:0002817	Abnormality of the upper limb	207	AKT1	ORPHA:744
HP:0002817	Abnormality of the upper limb	2887	GRB10	ORPHA:96182
HP:0002817	Abnormality of the upper limb	1457	CSNK2A1	OMIM:617062
HP:0002817	Abnormality of the upper limb	51715	RAB23	OMIM:201000
HP:0002817	Abnormality of the upper limb	28952	CCDC22	OMIM:300963
HP:0002817	Abnormality of the upper limb	90416	CCDC32	OMIM:619123
HP:0002817	Abnormality of the upper limb	8450	CUL4B	ORPHA:85293
HP:0002817	Abnormality of the upper limb	55717	WDR11	OMIM:620237
HP:0002817	Abnormality of the upper limb	118924	FRA10AC1	OMIM:620113
HP:0002817	Abnormality of the upper limb	22995	CEP152	OMIM:613823
HP:0002817	Abnormality of the upper limb	22995	CEP152	ORPHA:808
HP:0002817	Abnormality of the upper limb	3090	HIC1	ORPHA:531
HP:0002817	Abnormality of the upper limb	10436	EMG1	OMIM:211180
HP:0002817	Abnormality of the upper limb	10436	EMG1	ORPHA:1270
HP:0002817	Abnormality of the upper limb	23387	SIK3	OMIM:618162
HP:0002817	Abnormality of the upper limb	10084	PQBP1	OMIM:309500
HP:0002817	Abnormality of the upper limb	89970	RSPRY1	ORPHA:457395
HP:0002817	Abnormality of the upper limb	22800	RRAS2	ORPHA:648
HP:0002817	Abnormality of the upper limb	867	CBL	ORPHA:648
HP:0002817	Abnormality of the upper limb	8216	LZTR1	ORPHA:648
HP:0002817	Abnormality of the upper limb	6016	RIT1	ORPHA:648
HP:0002817	Abnormality of the upper limb	6237	RRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	5894	RAF1	ORPHA:648
HP:0002817	Abnormality of the upper limb	22808	MRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	3845	KRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	200734	SPRED2	ORPHA:648
HP:0002817	Abnormality of the upper limb	4893	NRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	6654	SOS1	ORPHA:648
HP:0002817	Abnormality of the upper limb	6655	SOS2	ORPHA:648
HP:0002817	Abnormality of the upper limb	5781	PTPN11	ORPHA:648
HP:0002817	Abnormality of the upper limb	5922	RASA2	ORPHA:648
HP:0002817	Abnormality of the upper limb	23522	KAT6B	ORPHA:3047
HP:0002817	Abnormality of the upper limb	6913	TBX15	OMIM:260660
HP:0002817	Abnormality of the upper limb	79023	NUP37	OMIM:618179
HP:0002817	Abnormality of the upper limb	375056	MIA3	OMIM:619269
HP:0002817	Abnormality of the upper limb	27161	AGO2	OMIM:619149
HP:0002817	Abnormality of the upper limb	5567	PRKACB	OMIM:619143
HP:0002817	Abnormality of the upper limb	221927	BRAT1	OMIM:618056
HP:0002817	Abnormality of the upper limb	8823	FGF16	OMIM:309630
HP:0002817	Abnormality of the upper limb	5518	PPP2R1A	ORPHA:457284
HP:0002817	Abnormality of the upper limb	161742	SPRED1	ORPHA:137605
HP:0002817	Abnormality of the upper limb	7337	UBE3A	ORPHA:238446
HP:0002817	Abnormality of the upper limb	1832	DSP	ORPHA:158687
HP:0002817	Abnormality of the upper limb	1832	DSP	OMIM:609638
HP:0002817	Abnormality of the upper limb	3728	JUP	ORPHA:158687
HP:0002817	Abnormality of the upper limb	23241	PACS2	OMIM:618067
HP:0002817	Abnormality of the upper limb	5885	RAD21	OMIM:614701
HP:0002817	Abnormality of the upper limb	5885	RAD21	ORPHA:199
HP:0002817	Abnormality of the upper limb	7518	XRCC4	ORPHA:99812
HP:0002817	Abnormality of the upper limb	3209	HOXA13	OMIM:140000
HP:0002817	Abnormality of the upper limb	3209	HOXA13	ORPHA:2438
HP:0002817	Abnormality of the upper limb	8854	ALDH1A2	OMIM:620025
HP:0002817	Abnormality of the upper limb	10274	STAG1	ORPHA:502434
HP:0002817	Abnormality of the upper limb	9241	NOG	ORPHA:3250
HP:0002817	Abnormality of the upper limb	9241	NOG	OMIM:186500
HP:0002817	Abnormality of the upper limb	613	BCR	ORPHA:261330
HP:0002817	Abnormality of the upper limb	1399	CRKL	ORPHA:261330
HP:0002817	Abnormality of the upper limb	89910	UBE3B	OMIM:244450
HP:0002817	Abnormality of the upper limb	2314	FLII	ORPHA:819
HP:0002817	Abnormality of the upper limb	23096	IQSEC2	ORPHA:819
HP:0002817	Abnormality of the upper limb	10522	DEAF1	ORPHA:819
HP:0002817	Abnormality of the upper limb	150468	CKAP2L	ORPHA:3255
HP:0002817	Abnormality of the upper limb	9184	BUB3	ORPHA:1052
HP:0002817	Abnormality of the upper limb	699	BUB1	ORPHA:1052
HP:0002817	Abnormality of the upper limb	699	BUB1	OMIM:620183
HP:0002817	Abnormality of the upper limb	9702	CEP57	ORPHA:1052
HP:0002817	Abnormality of the upper limb	9702	CEP57	OMIM:614114
HP:0002817	Abnormality of the upper limb	9319	TRIP13	ORPHA:1052
HP:0002817	Abnormality of the upper limb	701	BUB1B	ORPHA:1052
HP:0002817	Abnormality of the upper limb	54476	RNF216	ORPHA:1173
HP:0002817	Abnormality of the upper limb	10908	PNPLA6	ORPHA:1173
HP:0002817	Abnormality of the upper limb	23036	ZNF292	OMIM:619188
HP:0002817	Abnormality of the upper limb	51199	NIN	OMIM:614851
HP:0002817	Abnormality of the upper limb	51199	NIN	ORPHA:319675
HP:0002817	Abnormality of the upper limb	1954	MEGF8	OMIM:614976
HP:0002817	Abnormality of the upper limb	1857	DVL3	ORPHA:3107
HP:0002817	Abnormality of the upper limb	7474	WNT5A	ORPHA:3107
HP:0002817	Abnormality of the upper limb	1855	DVL1	ORPHA:3107
HP:0002817	Abnormality of the upper limb	2535	FZD2	ORPHA:3107
HP:0002817	Abnormality of the upper limb	2535	FZD2	OMIM:164745
HP:0002817	Abnormality of the upper limb	26053	AUTS2	OMIM:615834
HP:0002817	Abnormality of the upper limb	2122	MECOM	ORPHA:71289
HP:0002817	Abnormality of the upper limb	3207	HOXA11	ORPHA:71289
HP:0002817	Abnormality of the upper limb	3207	HOXA11	OMIM:605432
HP:0002817	Abnormality of the upper limb	81031	SLC2A10	ORPHA:3342
HP:0002817	Abnormality of the upper limb	55165	CEP55	OMIM:236500
HP:0002817	Abnormality of the upper limb	10236	HNRNPR	OMIM:620073
HP:0002817	Abnormality of the upper limb	6628	SNRPB	ORPHA:1393
HP:0002817	Abnormality of the upper limb	6628	SNRPB	OMIM:117650
HP:0002817	Abnormality of the upper limb	1028	CDKN1C	ORPHA:397590
HP:0002817	Abnormality of the upper limb	5324	PLAG1	ORPHA:397590
HP:0002817	Abnormality of the upper limb	9555	MACROH2A1	ORPHA:1275
HP:0002817	Abnormality of the upper limb	5307	PITX1	ORPHA:1275
HP:0002817	Abnormality of the upper limb	5422	POLA1	ORPHA:163976
HP:0002817	Abnormality of the upper limb	5422	POLA1	OMIM:301030
HP:0002817	Abnormality of the upper limb	55906	ZC4H2	ORPHA:3454
HP:0002817	Abnormality of the upper limb	10430	TMEM147	OMIM:620075
HP:0002817	Abnormality of the upper limb	23414	ZFPM2	OMIM:187500
HP:0002817	Abnormality of the upper limb	23414	ZFPM2	ORPHA:3303
HP:0002817	Abnormality of the upper limb	1482	NKX2-5	OMIM:187500
HP:0002817	Abnormality of the upper limb	1482	NKX2-5	ORPHA:3303
HP:0002817	Abnormality of the upper limb	182	JAG1	OMIM:187500
HP:0002817	Abnormality of the upper limb	182	JAG1	ORPHA:3303
HP:0002817	Abnormality of the upper limb	6899	TBX1	OMIM:187500
HP:0002817	Abnormality of the upper limb	6899	TBX1	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2627	GATA6	OMIM:187500
HP:0002817	Abnormality of the upper limb	2627	GATA6	ORPHA:3303
HP:0002817	Abnormality of the upper limb	545	ATR	ORPHA:808
HP:0002817	Abnormality of the upper limb	545	ATR	OMIM:210600
HP:0002817	Abnormality of the upper limb	1062	CENPE	ORPHA:808
HP:0002817	Abnormality of the upper limb	5116	PCNT	ORPHA:808
HP:0002817	Abnormality of the upper limb	5116	PCNT	OMIM:210720
HP:0002817	Abnormality of the upper limb	5116	PCNT	ORPHA:2637
HP:0002817	Abnormality of the upper limb	79902	NUP85	ORPHA:808
HP:0002817	Abnormality of the upper limb	84126	ATRIP	ORPHA:808
HP:0002817	Abnormality of the upper limb	55835	CENPJ	ORPHA:808
HP:0002817	Abnormality of the upper limb	10293	TRAIP	ORPHA:808
HP:0002817	Abnormality of the upper limb	10733	PLK4	ORPHA:808
HP:0002817	Abnormality of the upper limb	29123	ANKRD11	OMIM:148050
HP:0002817	Abnormality of the upper limb	9775	EIF4A3	OMIM:268305
HP:0002817	Abnormality of the upper limb	2702	GJA5	OMIM:612474
HP:0002817	Abnormality of the upper limb	2702	GJA5	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2703	GJA8	OMIM:612474
HP:0002817	Abnormality of the upper limb	4208	MEF2C	OMIM:613443
HP:0002817	Abnormality of the upper limb	22856	CHSY1	ORPHA:363417
HP:0002817	Abnormality of the upper limb	51621	KLF13	OMIM:612001
HP:0002817	Abnormality of the upper limb	5648	MASP1	OMIM:257920
HP:0002817	Abnormality of the upper limb	11133	KPTN	OMIM:615637
HP:0002817	Abnormality of the upper limb	11133	KPTN	ORPHA:397612
HP:0002817	Abnormality of the upper limb	137814	NKX2-6	ORPHA:3303
HP:0002817	Abnormality of the upper limb	3791	KDR	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2657	GDF1	ORPHA:3303
HP:0002817	Abnormality of the upper limb	140628	GATA5	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2324	FLT4	ORPHA:3303
HP:0002817	Abnormality of the upper limb	10370	CITED2	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2334	AFF2	ORPHA:100973
HP:0002817	Abnormality of the upper limb	10847	SRCAP	OMIM:136140
HP:0002817	Abnormality of the upper limb	84679	SLC9A7	OMIM:301024
HP:0002817	Abnormality of the upper limb	10735	STAG2	OMIM:301022
HP:0002817	Abnormality of the upper limb	5925	RB1	ORPHA:1587
HP:0002817	Abnormality of the upper limb	7874	USP7	OMIM:616863
HP:0002817	Abnormality of the upper limb	3759	KCNJ2	OMIM:170390
HP:0002817	Abnormality of the upper limb	81620	CDT1	ORPHA:2554
HP:0002817	Abnormality of the upper limb	5000	ORC4	ORPHA:2554
HP:0002817	Abnormality of the upper limb	23594	ORC6	ORPHA:2554
HP:0002817	Abnormality of the upper limb	990	CDC6	ORPHA:2554
HP:0002817	Abnormality of the upper limb	51053	GMNN	ORPHA:2554
HP:0002817	Abnormality of the upper limb	25	ABL1	OMIM:617602
HP:0002817	Abnormality of the upper limb	29980	DONSON	OMIM:617604
HP:0002817	Abnormality of the upper limb	6638	SNRPN	ORPHA:177907
HP:0002817	Abnormality of the upper limb	23476	BRD4	ORPHA:199
HP:0002817	Abnormality of the upper limb	10664	CTCF	ORPHA:363611
HP:0002817	Abnormality of the upper limb	22931	RAB18	OMIM:614222
HP:0002817	Abnormality of the upper limb	490	ATP2B1	OMIM:619910
HP:0002817	Abnormality of the upper limb	284252	KCTD1	OMIM:181270
HP:0002817	Abnormality of the upper limb	54870	QRICH1	OMIM:617982
HP:0002817	Abnormality of the upper limb	139285	AMER1	OMIM:300373
HP:0002817	Abnormality of the upper limb	4841	NONO	ORPHA:466791
HP:0002817	Abnormality of the upper limb	1663	DDX11	OMIM:613398
HP:0002817	Abnormality of the upper limb	2186	BPTF	OMIM:617755
HP:0002817	Abnormality of the upper limb	59341	TRPV4	ORPHA:2635
HP:0002817	Abnormality of the upper limb	10225	CD96	ORPHA:1308
HP:0002817	Abnormality of the upper limb	4848	CNOT2	OMIM:618608
HP:0002817	Abnormality of the upper limb	64131	XYLT1	ORPHA:1425
HP:0002817	Abnormality of the upper limb	124583	CANT1	ORPHA:1425
HP:0002817	Abnormality of the upper limb	55790	CSGALNACT1	ORPHA:1425
HP:0002817	Abnormality of the upper limb	4204	MECP2	OMIM:300260
HP:0002817	Abnormality of the upper limb	55553	SOX6	OMIM:618971
HP:0002817	Abnormality of the upper limb	84148	KAT8	OMIM:618974
HP:0002817	Abnormality of the upper limb	58499	ZNF462	OMIM:618619
HP:0002817	Abnormality of the upper limb	6598	SMARCB1	OMIM:614608
HP:0002817	Abnormality of the upper limb	84068	SLC10A7	OMIM:618363
HP:0002817	Abnormality of the upper limb	5144	PDE4D	OMIM:614613
HP:0002817	Abnormality of the upper limb	54187	NANS	OMIM:610442
HP:0002817	Abnormality of the upper limb	23169	SLC35D1	OMIM:269250
HP:0002817	Abnormality of the upper limb	9451	EIF2AK3	OMIM:226980
HP:0002817	Abnormality of the upper limb	10568	SLC34A2	ORPHA:60025
HP:0002817	Abnormality of the upper limb	3417	IDH1	ORPHA:99646
HP:0002817	Abnormality of the upper limb	8838	CCN6	ORPHA:1159
HP:0002817	Abnormality of the upper limb	3480	IGF1R	ORPHA:73273
HP:0002817	Abnormality of the upper limb	2879	GPX4	ORPHA:93317
HP:0002817	Abnormality of the upper limb	124997	WDR81	OMIM:610185
HP:0002817	Abnormality of the upper limb	118429	ANTXR2	ORPHA:2176
HP:0002817	Abnormality of the upper limb	79639	TMEM53	OMIM:619727
HP:0002817	Abnormality of the upper limb	55249	YY1AP1	ORPHA:79094
HP:0002817	Abnormality of the upper limb	818	CAMK2G	OMIM:618522
HP:0002817	Abnormality of the upper limb	4054	LTBP3	ORPHA:969
HP:0002817	Abnormality of the upper limb	222663	SCUBE3	OMIM:619184
HP:0002817	Abnormality of the upper limb	80311	KLHL15	OMIM:300982
HP:0002817	Abnormality of the upper limb	4000	LMNA	ORPHA:79474
HP:0002817	Abnormality of the upper limb	2254	FGF9	ORPHA:3237
HP:0002817	Abnormality of the upper limb	6885	MAP3K7	ORPHA:3238
HP:0002817	Abnormality of the upper limb	9321	TRIP11	ORPHA:166272
HP:0002817	Abnormality of the upper limb	9321	TRIP11	ORPHA:93299
HP:0002817	Abnormality of the upper limb	6905	TBCE	OMIM:241410
HP:0002817	Abnormality of the upper limb	6905	TBCE	OMIM:244460
HP:0002817	Abnormality of the upper limb	10013	HDAC6	ORPHA:163966
HP:0002817	Abnormality of the upper limb	9719	ADAMTSL2	OMIM:231050
HP:0002817	Abnormality of the upper limb	1298	COL9A2	OMIM:600204
HP:0002817	Abnormality of the upper limb	5159	PDGFRB	OMIM:601812
HP:0002817	Abnormality of the upper limb	28957	MRPS28	OMIM:618958
HP:0002817	Abnormality of the upper limb	23261	CAMTA1	OMIM:614756
HP:0002817	Abnormality of the upper limb	25839	COG4	ORPHA:85172
HP:0002817	Abnormality of the upper limb	5295	PIK3R1	ORPHA:3163
HP:0002817	Abnormality of the upper limb	8813	DPM1	OMIM:608799
HP:0002817	Abnormality of the upper limb	51322	WAC	ORPHA:466950
HP:0002817	Abnormality of the upper limb	147372	CCBE1	OMIM:235510
HP:0002817	Abnormality of the upper limb	4692	NDN	ORPHA:177910
HP:0002817	Abnormality of the upper limb	7681	MKRN3	OMIM:176270
HP:0002817	Abnormality of the upper limb	3653	IPW	OMIM:176270
HP:0002817	Abnormality of the upper limb	791114	PWRN1	OMIM:176270
HP:0002817	Abnormality of the upper limb	100033413	SNORD116-1	OMIM:176270
HP:0002817	Abnormality of the upper limb	8924	HERC2	OMIM:176270
HP:0002817	Abnormality of the upper limb	145624	PWAR1	OMIM:176270
HP:0002817	Abnormality of the upper limb	23742	NPAP1	OMIM:176270
HP:0002817	Abnormality of the upper limb	338433	SNORD115-1	OMIM:176270
HP:0002817	Abnormality of the upper limb	579	NKX3-2	OMIM:613330
HP:0002817	Abnormality of the upper limb	324	APC	ORPHA:3258
HP:0002817	Abnormality of the upper limb	51305	KCNK9	ORPHA:166108
HP:0002817	Abnormality of the upper limb	162514	TRPV3	OMIM:616400
HP:0002817	Abnormality of the upper limb	55628	ZNF407	OMIM:619557
HP:0002817	Abnormality of the upper limb	23219	FBXO28	OMIM:619777
HP:0002817	Abnormality of the upper limb	84265	POLR3GL	OMIM:619234
HP:0002817	Abnormality of the upper limb	3798	KIF5A	ORPHA:100991
HP:0002817	Abnormality of the upper limb	5281	PIGF	OMIM:619356
HP:0002817	Abnormality of the upper limb	4882	NPR2	OMIM:615923
HP:0002817	Abnormality of the upper limb	9939	RBM8A	OMIM:274000
HP:0002817	Abnormality of the upper limb	11011	TLK2	OMIM:618050
HP:0002817	Abnormality of the upper limb	5932	RBBP8	OMIM:251255
HP:0002817	Abnormality of the upper limb	9361	LONP1	OMIM:600373
HP:0002817	Abnormality of the upper limb	145258	GSC	OMIM:602471
HP:0002817	Abnormality of the upper limb	4982	TNFRSF11B	OMIM:239000
HP:0002817	Abnormality of the upper limb	114803	MYSM1	ORPHA:508542
HP:0002817	Abnormality of the upper limb	8540	AGPS	OMIM:600121
HP:0002817	Abnormality of the upper limb	8802	SUCLG1	ORPHA:17
HP:0002817	Abnormality of the upper limb	5830	PEX5	OMIM:616716
HP:0002817	Abnormality of the upper limb	4323	MMP14	ORPHA:371428
HP:0002817	Abnormality of the upper limb	9130	FAM50A	OMIM:300261
HP:0002817	Abnormality of the upper limb	8139	GAN	ORPHA:643
HP:0002817	Abnormality of the upper limb	9365	KL	OMIM:617994
HP:0002817	Abnormality of the upper limb	128674	PROKR2	OMIM:244200
HP:0002817	Abnormality of the upper limb	3373	HYAL1	OMIM:601492
HP:0002817	Abnormality of the upper limb	84720	PIGO	ORPHA:247262
HP:0002817	Abnormality of the upper limb	84720	PIGO	OMIM:614749
HP:0002817	Abnormality of the upper limb	93210	PGAP3	ORPHA:247262
HP:0002817	Abnormality of the upper limb	93210	PGAP3	OMIM:615716
HP:0002817	Abnormality of the upper limb	284098	PIGW	ORPHA:247262
HP:0002817	Abnormality of the upper limb	27315	PGAP2	ORPHA:247262
HP:0002817	Abnormality of the upper limb	27315	PGAP2	OMIM:614207
HP:0002817	Abnormality of the upper limb	29929	ALG6	ORPHA:79320
HP:0002817	Abnormality of the upper limb	2990	GUSB	OMIM:253220
HP:0002817	Abnormality of the upper limb	10558	SPTLC1	OMIM:162400
HP:0002817	Abnormality of the upper limb	22948	CCT5	OMIM:256840
HP:0002817	Abnormality of the upper limb	22948	CCT5	ORPHA:139578
HP:0002817	Abnormality of the upper limb	4803	NGF	OMIM:608654
HP:0002817	Abnormality of the upper limb	3376	IARS1	ORPHA:541423
HP:0002817	Abnormality of the upper limb	79068	FTO	OMIM:612938
HP:0002817	Abnormality of the upper limb	4256	MGP	OMIM:245150
HP:0002817	Abnormality of the upper limb	6583	SLC22A4	OMIM:180300
HP:0002817	Abnormality of the upper limb	4261	CIITA	OMIM:180300
HP:0002817	Abnormality of the upper limb	51744	CD244	OMIM:180300
HP:0002817	Abnormality of the upper limb	4795	NFKBIL1	OMIM:180300
HP:0002817	Abnormality of the upper limb	3586	IL10	OMIM:180300
HP:0002817	Abnormality of the upper limb	56098	PCDHGC4	OMIM:619880
HP:0002817	Abnormality of the upper limb	26278	SACS	OMIM:270550
HP:0002817	Abnormality of the upper limb	4041	LRP5	OMIM:144750
HP:0002817	Abnormality of the upper limb	4853	NOTCH2	OMIM:102500
HP:0002817	Abnormality of the upper limb	7994	KAT6A	OMIM:616268
HP:0002817	Abnormality of the upper limb	1297	COL9A1	ORPHA:166002
HP:0002817	Abnormality of the upper limb	55252	ASXL2	OMIM:617190
HP:0002817	Abnormality of the upper limb	8036	SHOC2	OMIM:607721
HP:0002817	Abnormality of the upper limb	65082	VPS33A	ORPHA:505248
HP:0002817	Abnormality of the upper limb	8558	CDK10	OMIM:617694
HP:0002817	Abnormality of the upper limb	29957	SLC25A24	OMIM:612289
HP:0002817	Abnormality of the upper limb	5604	MAP2K1	ORPHA:1340
HP:0002817	Abnormality of the upper limb	5605	MAP2K2	ORPHA:1340
HP:0002817	Abnormality of the upper limb	283209	PGM2L1	OMIM:620191
HP:0002817	Abnormality of the upper limb	10651	MTX2	OMIM:619127
HP:0002817	Abnormality of the upper limb	1806	DPYD	ORPHA:1675
HP:0002817	Abnormality of the upper limb	2475	MTOR	OMIM:616638
HP:0002817	Abnormality of the upper limb	3848	KRT1	ORPHA:530838
HP:0002817	Abnormality of the upper limb	7466	WFS1	OMIM:222300
HP:0002817	Abnormality of the upper limb	64135	IFIH1	OMIM:182250
HP:0002817	Abnormality of the upper limb	54829	ASPN	OMIM:607850
HP:0002817	Abnormality of the upper limb	1302	COL11A2	OMIM:215150
HP:0002817	Abnormality of the upper limb	6597	SMARCA4	OMIM:614609
HP:0002817	Abnormality of the upper limb	4233	MET	OMIM:620019
HP:0002817	Abnormality of the upper limb	4091	SMAD6	OMIM:179300
HP:0002817	Abnormality of the upper limb	10584	COLEC10	ORPHA:293843
HP:0002817	Abnormality of the upper limb	78989	COLEC11	ORPHA:293843
HP:0002817	Abnormality of the upper limb	27125	AFF4	ORPHA:444077
HP:0002817	Abnormality of the upper limb	9469	CHST3	OMIM:143095
HP:0002817	Abnormality of the upper limb	6812	STXBP1	ORPHA:495818
HP:0002817	Abnormality of the upper limb	11014	KDELR2	OMIM:619131
HP:0002817	Abnormality of the upper limb	60681	FKBP10	ORPHA:1149
HP:0002817	Abnormality of the upper limb	64423	INF2	OMIM:614455
HP:0002817	Abnormality of the upper limb	1508	CTSB	OMIM:148370
HP:0002817	Abnormality of the upper limb	80326	WNT10A	OMIM:150400
HP:0002817	Abnormality of the upper limb	80326	WNT10A	OMIM:257980
HP:0002817	Abnormality of the upper limb	8710	SERPINB7	OMIM:615598
HP:0002817	Abnormality of the upper limb	64065	PERP	ORPHA:659
HP:0002817	Abnormality of the upper limb	284654	RSPO1	OMIM:610644
HP:0002817	Abnormality of the upper limb	1041	CDSN	OMIM:270300
HP:0002817	Abnormality of the upper limb	5317	PKP1	OMIM:604536
HP:0002817	Abnormality of the upper limb	3868	KRT16	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3872	KRT17	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3853	KRT6A	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3854	KRT6B	ORPHA:2309
HP:0002817	Abnormality of the upper limb	1828	DSG1	OMIM:148700
HP:0002817	Abnormality of the upper limb	362	AQP5	OMIM:600231
HP:0002817	Abnormality of the upper limb	362	AQP5	ORPHA:2337
HP:0002817	Abnormality of the upper limb	145264	SERPINA12	ORPHA:86923
HP:0002817	Abnormality of the upper limb	54800	KLHL24	OMIM:617294
HP:0002817	Abnormality of the upper limb	9342	SNAP29	ORPHA:66631
HP:0002817	Abnormality of the upper limb	79651	RHBDF2	OMIM:148500
HP:0002817	Abnormality of the upper limb	3857	KRT9	ORPHA:2199
HP:0002817	Abnormality of the upper limb	2706	GJB2	ORPHA:494
HP:0002817	Abnormality of the upper limb	2706	GJB2	OMIM:124500
HP:0002817	Abnormality of the upper limb	7051	TGM1	ORPHA:100976
HP:0002817	Abnormality of the upper limb	9517	SPTLC2	OMIM:613640
HP:0002817	Abnormality of the upper limb	4914	NTRK1	OMIM:256800
HP:0002817	Abnormality of the upper limb	11277	TREX1	OMIM:610448
HP:0002817	Abnormality of the upper limb	51062	ATL1	OMIM:613708
HP:0002817	Abnormality of the upper limb	4014	LORICRIN	OMIM:604117
HP:0002817	Abnormality of the upper limb	4014	LORICRIN	ORPHA:79395
HP:0002817	Abnormality of the upper limb	51371	POMP	OMIM:601952
HP:0002817	Abnormality of the upper limb	23545	ATP6V0A2	OMIM:278250
HP:0002817	Abnormality of the upper limb	5167	ENPP1	OMIM:615522
HP:0002817	Abnormality of the upper limb	488	ATP2A2	OMIM:101900
HP:0002817	Abnormality of the upper limb	488	ATP2A2	ORPHA:79151
HP:0002817	Abnormality of the upper limb	3861	KRT14	ORPHA:69087
HP:0002817	Abnormality of the upper limb	831	CAST	OMIM:616295
HP:0002817	Abnormality of the upper limb	79719	AAGAB	OMIM:148600
HP:0002817	Abnormality of the upper limb	26276	VPS33B	OMIM:620009
HP:0002817	Abnormality of the upper limb	5792	PTPRF	OMIM:616001
HP:0002817	Abnormality of the upper limb	129563	DIS3L2	ORPHA:2849
HP:0002817	Abnormality of the upper limb	55670	PEX26	ORPHA:44
HP:0002817	Abnormality of the upper limb	5824	PEX19	ORPHA:44
HP:0002817	Abnormality of the upper limb	8504	PEX3	ORPHA:44
HP:0002817	Abnormality of the upper limb	9409	PEX16	ORPHA:44
HP:0002817	Abnormality of the upper limb	8799	PEX11B	ORPHA:44
HP:0002817	Abnormality of the upper limb	5194	PEX13	ORPHA:44
HP:0002817	Abnormality of the upper limb	5195	PEX14	ORPHA:44
HP:0002817	Abnormality of the upper limb	5192	PEX10	ORPHA:44
HP:0002817	Abnormality of the upper limb	23511	NUP188	OMIM:618804
HP:0002817	Abnormality of the upper limb	9333	TGM5	ORPHA:263534
HP:0002817	Abnormality of the upper limb	1475	CSTA	ORPHA:263534
HP:0002817	Abnormality of the upper limb	8443	GNPAT	OMIM:222765
HP:0002817	Abnormality of the upper limb	23321	TRIM2	OMIM:615490
HP:0002817	Abnormality of the upper limb	1678	TIMM8A	OMIM:304700
HP:0002817	Abnormality of the upper limb	7143	TNR	OMIM:619653
HP:0002817	Abnormality of the upper limb	23259	DDHD2	OMIM:615033
HP:0002817	Abnormality of the upper limb	773	CACNA1A	ORPHA:569
HP:0002817	Abnormality of the upper limb	112476	PRRT2	ORPHA:569
HP:0002817	Abnormality of the upper limb	6323	SCN1A	ORPHA:569
HP:0002817	Abnormality of the upper limb	477	ATP1A2	ORPHA:569
HP:0002817	Abnormality of the upper limb	4311	MME	ORPHA:497764
HP:0002817	Abnormality of the upper limb	59345	GNB4	OMIM:615185
HP:0002817	Abnormality of the upper limb	6652	SORD	OMIM:618912
HP:0002817	Abnormality of the upper limb	7453	WARS1	OMIM:617721
HP:0002817	Abnormality of the upper limb	90523	MLIP	OMIM:620138
HP:0002817	Abnormality of the upper limb	339855	KY	ORPHA:496689
HP:0002817	Abnormality of the upper limb	3991	LIPE	ORPHA:435660
HP:0002817	Abnormality of the upper limb	400916	CHCHD10	ORPHA:457050
HP:0002817	Abnormality of the upper limb	400916	CHCHD10	ORPHA:276435
HP:0002817	Abnormality of the upper limb	64419	MTMR14	ORPHA:169189
HP:0002817	Abnormality of the upper limb	64419	MTMR14	OMIM:160150
HP:0002817	Abnormality of the upper limb	4618	MYF6	ORPHA:169189
HP:0002817	Abnormality of the upper limb	1785	DNM2	ORPHA:169189
HP:0002817	Abnormality of the upper limb	1785	DNM2	OMIM:160150
HP:0002817	Abnormality of the upper limb	8557	TCAP	OMIM:601954
HP:0002817	Abnormality of the upper limb	3714	JAG2	OMIM:619566
HP:0002817	Abnormality of the upper limb	3908	LAMA2	OMIM:618138
HP:0002817	Abnormality of the upper limb	1371	CPOX	ORPHA:79273
HP:0002817	Abnormality of the upper limb	23175	LPIN1	ORPHA:99845
HP:0002817	Abnormality of the upper limb	4512	MT-CO1	ORPHA:99845
HP:0002817	Abnormality of the upper limb	4514	MT-CO3	ORPHA:99845
HP:0002817	Abnormality of the upper limb	5498	PPOX	ORPHA:79473
HP:0002817	Abnormality of the upper limb	3145	HMBS	ORPHA:79276
HP:0002817	Abnormality of the upper limb	10755	GIPC1	ORPHA:98897
HP:0002817	Abnormality of the upper limb	100996717	NOTCH2NLC	ORPHA:98897
HP:0002817	Abnormality of the upper limb	55958	KLHL9	ORPHA:399081
HP:0002817	Abnormality of the upper limb	10280	SIGMAR1	OMIM:614373
HP:0002817	Abnormality of the upper limb	57863	CADM3	OMIM:619519
HP:0002817	Abnormality of the upper limb	6786	STIM1	OMIM:160565
HP:0002817	Abnormality of the upper limb	825	CAPN3	ORPHA:267
HP:0002817	Abnormality of the upper limb	2218	FKTN	OMIM:611588
HP:0002817	Abnormality of the upper limb	8878	SQSTM1	ORPHA:603
HP:0002817	Abnormality of the upper limb	7072	TIA1	ORPHA:603
HP:0002817	Abnormality of the upper limb	11155	LDB3	ORPHA:98912
HP:0002817	Abnormality of the upper limb	9420	CYP7B1	OMIM:270800
HP:0002817	Abnormality of the upper limb	9420	CYP7B1	ORPHA:100986
HP:0002817	Abnormality of the upper limb	4744	NEFH	OMIM:616924
HP:0002817	Abnormality of the upper limb	57679	ALS2	OMIM:205100
HP:0002817	Abnormality of the upper limb	80199	FUZ	ORPHA:1136
HP:0002817	Abnormality of the upper limb	10342	TFG	OMIM:615658
HP:0002817	Abnormality of the upper limb	89874	SLC25A21	OMIM:618811
HP:0002817	Abnormality of the upper limb	113278	SLC52A3	OMIM:211530
HP:0002817	Abnormality of the upper limb	2395	FXN	ORPHA:95
HP:0002817	Abnormality of the upper limb	10093	ARPC4	OMIM:620141
HP:0002817	Abnormality of the upper limb	56992	KIF15	ORPHA:261323
HP:0002817	Abnormality of the upper limb	6601	SMARCC2	ORPHA:1465
HP:0002817	Abnormality of the upper limb	6602	SMARCD1	ORPHA:1465
HP:0002817	Abnormality of the upper limb	196528	ARID2	ORPHA:1465
HP:0002817	Abnormality of the upper limb	5879	RAC1	ORPHA:500159
HP:0002817	Abnormality of the upper limb	5286	PIK3C2A	ORPHA:557003
HP:0002817	Abnormality of the upper limb	1327	COX4I1	OMIM:619060
HP:0002817	Abnormality of the upper limb	7403	KDM6A	OMIM:300867
HP:0002817	Abnormality of the upper limb	7403	KDM6A	ORPHA:2322
HP:0002817	Abnormality of the upper limb	7403	KDM6A	OMIM:147920
HP:0002817	Abnormality of the upper limb	8085	KMT2D	ORPHA:2322
HP:0002817	Abnormality of the upper limb	8085	KMT2D	OMIM:147920
HP:0002817	Abnormality of the upper limb	23291	FBXW11	OMIM:618914
HP:0002817	Abnormality of the upper limb	10765	KDM5B	OMIM:618109
HP:0002817	Abnormality of the upper limb	6909	TBX2	OMIM:618223
HP:0002817	Abnormality of the upper limb	50814	NSDHL	OMIM:308050
HP:0002817	Abnormality of the upper limb	2019	EN1	OMIM:619218
HP:0002817	Abnormality of the upper limb	50945	TBX22	ORPHA:921
HP:0002817	Abnormality of the upper limb	9382	COG1	OMIM:611209
HP:0002817	Abnormality of the upper limb	101929726	MYMX	ORPHA:1358
HP:0002817	Abnormality of the upper limb	1277	COL1A1	OMIM:130060
HP:0002817	Abnormality of the upper limb	1718	DHCR24	OMIM:602398
HP:0002817	Abnormality of the upper limb	1235	CCR6	ORPHA:220402
HP:0002817	Abnormality of the upper limb	79932	KIAA0319L	ORPHA:220402
HP:0002817	Abnormality of the upper limb	1490	CCN2	ORPHA:220402
HP:0002817	Abnormality of the upper limb	3663	IRF5	ORPHA:220402
HP:0002817	Abnormality of the upper limb	3123	HLA-DRB1	ORPHA:220402
HP:0002817	Abnormality of the upper limb	113179	ADAT3	ORPHA:363528
HP:0002817	Abnormality of the upper limb	9215	LARGE1	OMIM:608840
HP:0002817	Abnormality of the upper limb	7390	UROS	OMIM:263700
HP:0002817	Abnormality of the upper limb	10381	TUBB3	OMIM:600638
HP:0002817	Abnormality of the upper limb	3572	IL6ST	OMIM:618523
HP:0002817	Abnormality of the upper limb	57449	PLEKHG5	OMIM:611067
HP:0002817	Abnormality of the upper limb	28982	FLVCR1	OMIM:609033
HP:0002817	Abnormality of the upper limb	55131	RBM28	ORPHA:157954
HP:0002817	Abnormality of the upper limb	55131	RBM28	OMIM:612079
HP:0002817	Abnormality of the upper limb	4123	MAN2C1	OMIM:619775
HP:0002817	Abnormality of the upper limb	79796	ALG9	ORPHA:79328
HP:0002817	Abnormality of the upper limb	79796	ALG9	OMIM:263210
HP:0002817	Abnormality of the upper limb	80144	FRAS1	OMIM:219000
HP:0002817	Abnormality of the upper limb	5053	PAH	ORPHA:2209
HP:0002817	Abnormality of the upper limb	55280	CWF19L1	ORPHA:453521
HP:0002817	Abnormality of the upper limb	8314	BAP1	OMIM:619762
HP:0002817	Abnormality of the upper limb	4247	MGAT2	OMIM:212066
HP:0002817	Abnormality of the upper limb	5293	PIK3CD	ORPHA:221139
HP:0002817	Abnormality of the upper limb	90417	KNSTRN	ORPHA:221139
HP:0002817	Abnormality of the upper limb	26092	TOR1AIP1	OMIM:617072
HP:0002817	Abnormality of the upper limb	6662	SOX9	OMIM:114290
HP:0002817	Abnormality of the upper limb	6938	TCF12	ORPHA:35099
HP:0002817	Abnormality of the upper limb	7545	ZIC1	ORPHA:35099
HP:0002817	Abnormality of the upper limb	2192	FBLN1	OMIM:608180
HP:0002817	Abnormality of the upper limb	23586	RIGI	OMIM:616298
HP:0002817	Abnormality of the upper limb	25923	ATL3	OMIM:615632
HP:0002817	Abnormality of the upper limb	4626	MYH8	ORPHA:3377
HP:0002817	Abnormality of the upper limb	340419	RSPO2	OMIM:618022
HP:0002817	Abnormality of the upper limb	8452	CUL3	OMIM:619239
HP:0002817	Abnormality of the upper limb	407975	MIR17HG	ORPHA:391646
HP:0002817	Abnormality of the upper limb	4053	LTBP2	ORPHA:3449
HP:0002817	Abnormality of the upper limb	3590	IL11RA	OMIM:614188
HP:0002817	Abnormality of the upper limb	1807	DPYS	OMIM:222748
HP:0002817	Abnormality of the upper limb	9509	ADAMTS2	OMIM:225410
HP:0002817	Abnormality of the upper limb	5500	PPP1CB	ORPHA:2701
HP:0002817	Abnormality of the upper limb	2690	GHR	ORPHA:633
HP:0002817	Abnormality of the upper limb	51604	PIGT	ORPHA:369837
HP:0002817	Abnormality of the upper limb	1147	CHUK	OMIM:613630
HP:0002817	Abnormality of the upper limb	9653	HS2ST1	OMIM:619194
HP:0002817	Abnormality of the upper limb	55209	SETD5	ORPHA:404440
HP:0002817	Abnormality of the upper limb	55209	SETD5	OMIM:615761
HP:0002817	Abnormality of the upper limb	50964	SOST	ORPHA:3152
HP:0002817	Abnormality of the upper limb	1513	CTSK	ORPHA:763
HP:0002817	Abnormality of the upper limb	1513	CTSK	OMIM:265800
HP:0002817	Abnormality of the upper limb	8815	BANF1	OMIM:614008
HP:0002817	Abnormality of the upper limb	26229	B3GAT3	OMIM:245600
HP:0002817	Abnormality of the upper limb	10617	STAMBP	OMIM:614261
HP:0002817	Abnormality of the upper limb	2335	FN1	ORPHA:93315
HP:0002817	Abnormality of the upper limb	51412	ACTL6B	OMIM:618470
HP:0002817	Abnormality of the upper limb	55784	MCTP2	ORPHA:1596
HP:0002817	Abnormality of the upper limb	3764	KCNJ8	ORPHA:1517
HP:0002817	Abnormality of the upper limb	10269	ZMPSTE24	ORPHA:90154
HP:0002817	Abnormality of the upper limb	24140	FTSJ1	OMIM:309549
HP:0002817	Abnormality of the upper limb	54496	PRMT7	OMIM:617157
HP:0002817	Abnormality of the upper limb	8289	ARID1A	OMIM:614607
HP:0002817	Abnormality of the upper limb	9419	CRIPT	OMIM:615789
HP:0002817	Abnormality of the upper limb	54	ACP5	ORPHA:1855
HP:0002817	Abnormality of the upper limb	2677	GGCX	OMIM:277450
HP:0002817	Abnormality of the upper limb	10283	CWC27	OMIM:250410
HP:0002817	Abnormality of the upper limb	415	ARSL	ORPHA:79345
HP:0002817	Abnormality of the upper limb	415	ARSL	OMIM:302950
HP:0002817	Abnormality of the upper limb	26137	ZBTB20	OMIM:259050
HP:0002817	Abnormality of the upper limb	60401	EDA2R	ORPHA:181
HP:0002817	Abnormality of the upper limb	1896	EDA	ORPHA:181
HP:0002817	Abnormality of the upper limb	1186	CLCN7	ORPHA:53
HP:0002817	Abnormality of the upper limb	6664	SOX11	OMIM:615866
HP:0002817	Abnormality of the upper limb	55081	IFT57	OMIM:617927
HP:0002817	Abnormality of the upper limb	25886	POC1A	OMIM:614813
HP:0002817	Abnormality of the upper limb	865	CBFB	OMIM:620099
HP:0002817	Abnormality of the upper limb	6711	SPTBN1	OMIM:619475
HP:0002817	Abnormality of the upper limb	71	ACTG1	ORPHA:2995
HP:0002817	Abnormality of the upper limb	6135	RPL11	ORPHA:124
HP:0002817	Abnormality of the upper limb	6138	RPL15	ORPHA:124
HP:0002817	Abnormality of the upper limb	6229	RPS24	ORPHA:124
HP:0002817	Abnormality of the upper limb	6125	RPL5	ORPHA:124
HP:0002817	Abnormality of the upper limb	6204	RPS10	ORPHA:124
HP:0002817	Abnormality of the upper limb	6224	RPS20	ORPHA:124
HP:0002817	Abnormality of the upper limb	6165	RPL35A	ORPHA:124
HP:0002817	Abnormality of the upper limb	6223	RPS19	ORPHA:124
HP:0002817	Abnormality of the upper limb	6223	RPS19	OMIM:105650
HP:0002817	Abnormality of the upper limb	6232	RPS27	ORPHA:124
HP:0002817	Abnormality of the upper limb	6231	RPS26	ORPHA:124
HP:0002817	Abnormality of the upper limb	11224	RPL35	ORPHA:124
HP:0002817	Abnormality of the upper limb	6160	RPL31	ORPHA:124
HP:0002817	Abnormality of the upper limb	6218	RPS17	ORPHA:124
HP:0002817	Abnormality of the upper limb	6201	RPS7	ORPHA:124
HP:0002817	Abnormality of the upper limb	6155	RPL27	ORPHA:124
HP:0002817	Abnormality of the upper limb	6210	RPS15A	ORPHA:124
HP:0002817	Abnormality of the upper limb	90121	TSR2	ORPHA:124
HP:0002817	Abnormality of the upper limb	6141	RPL18	ORPHA:124
HP:0002817	Abnormality of the upper limb	6235	RPS29	ORPHA:124
HP:0002817	Abnormality of the upper limb	6234	RPS28	ORPHA:124
HP:0002817	Abnormality of the upper limb	51816	ADA2	ORPHA:124
HP:0002817	Abnormality of the upper limb	10992	SF3B2	OMIM:164210
HP:0002817	Abnormality of the upper limb	27152	INTU	OMIM:617926
HP:0002817	Abnormality of the upper limb	57020	VPS35L	OMIM:619135
HP:0002817	Abnormality of the upper limb	3911	LAMA5	OMIM:620076
HP:0002817	Abnormality of the upper limb	6736	SRY	ORPHA:1772
HP:0002817	Abnormality of the upper limb	79633	FAT4	OMIM:615546
HP:0002817	Abnormality of the upper limb	8642	DCHS1	OMIM:601390
HP:0002817	Abnormality of the upper limb	26224	FBXL3	OMIM:606220
HP:0002817	Abnormality of the upper limb	55612	FERMT1	ORPHA:2908
HP:0002817	Abnormality of the upper limb	55733	HHAT	OMIM:600092
HP:0002817	Abnormality of the upper limb	55733	HHAT	ORPHA:1422
HP:0002817	Abnormality of the upper limb	149775	GNAS-AS1	OMIM:603233
HP:0002817	Abnormality of the upper limb	64175	P3H1	OMIM:610915
HP:0002817	Abnormality of the upper limb	5139	PDE3A	OMIM:112410
HP:0002817	Abnormality of the upper limb	5139	PDE3A	ORPHA:1276
HP:0002817	Abnormality of the upper limb	5593	PRKG2	OMIM:619636
HP:0002817	Abnormality of the upper limb	4810	NHS	ORPHA:627
HP:0002817	Abnormality of the upper limb	5130	PCYT1A	ORPHA:85167
HP:0002817	Abnormality of the upper limb	5130	PCYT1A	OMIM:608940
HP:0002817	Abnormality of the upper limb	5264	PHYH	ORPHA:773
HP:0002817	Abnormality of the upper limb	5191	PEX7	ORPHA:773
HP:0002817	Abnormality of the upper limb	1788	DNMT3A	OMIM:618724
HP:0002817	Abnormality of the upper limb	54101	RIPK4	OMIM:263650
HP:0002817	Abnormality of the upper limb	25871	NEPRO	OMIM:618853
HP:0002817	Abnormality of the upper limb	2074	ERCC6	OMIM:133540
HP:0002817	Abnormality of the upper limb	1161	ERCC8	OMIM:216400
HP:0002817	Abnormality of the upper limb	29926	GMPPA	ORPHA:869
HP:0002817	Abnormality of the upper limb	60684	TRAPPC11	ORPHA:869
HP:0002817	Abnormality of the upper limb	8086	AAAS	ORPHA:869
HP:0002817	Abnormality of the upper limb	121512	FGD4	OMIM:609311
HP:0002817	Abnormality of the upper limb	4927	NUP88	ORPHA:994
HP:0002817	Abnormality of the upper limb	7846	TUBA1A	ORPHA:994
HP:0002817	Abnormality of the upper limb	6572	SLC18A3	ORPHA:994
HP:0002817	Abnormality of the upper limb	22884	WDR37	OMIM:618652
HP:0002817	Abnormality of the upper limb	80347	COASY	OMIM:618266
HP:0002817	Abnormality of the upper limb	348180	CTU2	OMIM:618142
HP:0002817	Abnormality of the upper limb	256297	PTF1A	OMIM:609069
HP:0002817	Abnormality of the upper limb	129285	PPP1R21	OMIM:619383
HP:0002817	Abnormality of the upper limb	8567	MADD	OMIM:619004
HP:0002817	Abnormality of the upper limb	1822	ATN1	OMIM:618494
HP:0002817	Abnormality of the upper limb	5591	PRKDC	OMIM:615966
HP:0002817	Abnormality of the upper limb	10519	CIB1	OMIM:618267
HP:0002817	Abnormality of the upper limb	81607	NECTIN4	OMIM:613573
HP:0002817	Abnormality of the upper limb	10059	DNM1L	OMIM:614388
HP:0002817	Abnormality of the upper limb	29998	BICRA	OMIM:619325
HP:0002817	Abnormality of the upper limb	176	ACAN	OMIM:612813
HP:0002817	Abnormality of the upper limb	176	ACAN	ORPHA:171866
HP:0002817	Abnormality of the upper limb	51132	RLIM	OMIM:300978
HP:0002817	Abnormality of the upper limb	92579	G6PC3	OMIM:612541
HP:0002817	Abnormality of the upper limb	5718	PSMD12	ORPHA:529962
HP:0002817	Abnormality of the upper limb	4212	MEIS2	OMIM:600987
HP:0002817	Abnormality of the upper limb	23126	POGZ	OMIM:616364
HP:0002817	Abnormality of the upper limb	285362	SUMF1	OMIM:272200
HP:0002817	Abnormality of the upper limb	285362	SUMF1	ORPHA:585
HP:0002817	Abnormality of the upper limb	79759	ZNF668	OMIM:620194
HP:0002817	Abnormality of the upper limb	60529	ALX4	ORPHA:60015
HP:0002817	Abnormality of the upper limb	79989	IFT56	OMIM:619534
HP:0002817	Abnormality of the upper limb	23404	EXOSC2	OMIM:617763
HP:0002817	Abnormality of the upper limb	5587	PRKD1	OMIM:617364
HP:0002817	Abnormality of the upper limb	7528	YY1	ORPHA:506358
HP:0002817	Abnormality of the upper limb	654	BMP6	ORPHA:465508
HP:0002817	Abnormality of the upper limb	3077	HFE	ORPHA:465508
HP:0002817	Abnormality of the upper limb	22943	DKK1	ORPHA:268882
HP:0002817	Abnormality of the upper limb	6548	SLC9A1	OMIM:616291
HP:0002817	Abnormality of the upper limb	7504	XK	OMIM:300842
HP:0002817	Abnormality of the upper limb	3508	IGHMBP2	OMIM:616155
HP:0002817	Abnormality of the upper limb	3835	KIF22	OMIM:603546
HP:0002817	Abnormality of the upper limb	9711	RUBCN	OMIM:615705
HP:0002817	Abnormality of the upper limb	10159	ATP6AP2	ORPHA:93952
HP:0002817	Abnormality of the upper limb	8869	ST3GAL5	OMIM:609056
HP:0002817	Abnormality of the upper limb	11160	ERLIN2	ORPHA:209951
HP:0002817	Abnormality of the upper limb	5297	PI4KA	OMIM:616531
HP:0002817	Abnormality of the upper limb	6840	SVIL	OMIM:619040
HP:0002817	Abnormality of the upper limb	342035	GLDN	OMIM:617194
HP:0002817	Abnormality of the upper limb	6399	TRAPPC2	ORPHA:93284
HP:0002817	Abnormality of the upper limb	5696	PSMB8	OMIM:256040
HP:0002817	Abnormality of the upper limb	5692	PSMB4	OMIM:617591
HP:0002817	Abnormality of the upper limb	5698	PSMB9	OMIM:617591
HP:0002817	Abnormality of the upper limb	4952	OCRL	OMIM:309000
HP:0002817	Abnormality of the upper limb	4141	MARS1	OMIM:616280
HP:0002817	Abnormality of the upper limb	8988	HSPB3	OMIM:613376
HP:0002817	Abnormality of the upper limb	859	CAV3	OMIM:614321
HP:0002817	Abnormality of the upper limb	1639	DCTN1	OMIM:607641
HP:0002817	Abnormality of the upper limb	7084	TK2	ORPHA:254886
HP:0002817	Abnormality of the upper limb	2705	GJB1	OMIM:302800
HP:0002817	Abnormality of the upper limb	3035	HARS1	ORPHA:488333
HP:0002817	Abnormality of the upper limb	8292	COLQ	ORPHA:98915
HP:0002817	Abnormality of the upper limb	3913	LAMB2	ORPHA:98915
HP:0002817	Abnormality of the upper limb	8565	YARS1	OMIM:608323
HP:0002817	Abnormality of the upper limb	2588	GALNS	OMIM:253000
HP:0002817	Abnormality of the upper limb	81545	FBXO38	OMIM:615575
HP:0002817	Abnormality of the upper limb	122622	ADSS1	ORPHA:482601
HP:0002817	Abnormality of the upper limb	10585	POMT1	ORPHA:86812
HP:0002817	Abnormality of the upper limb	2318	FLNC	ORPHA:63273
HP:0002817	Abnormality of the upper limb	128	ADH5	OMIM:619151
HP:0002817	Abnormality of the upper limb	10625	IVNS1ABP	OMIM:618969
HP:0002817	Abnormality of the upper limb	920	CD4	OMIM:619238
HP:0002817	Abnormality of the upper limb	81570	CLPB	OMIM:616271
HP:0002817	Abnormality of the upper limb	126695	KDF1	OMIM:617337
HP:0002817	Abnormality of the upper limb	2312	FLG	OMIM:146700
HP:0002817	Abnormality of the upper limb	8566	PDXK	OMIM:618511
HP:0002817	Abnormality of the upper limb	10466	COG5	ORPHA:263487
HP:0002817	Abnormality of the upper limb	8092	ALX1	ORPHA:306542
HP:0002817	Abnormality of the upper limb	84342	COG8	OMIM:611182
HP:0002817	Abnormality of the upper limb	1747	DLX3	ORPHA:3352
HP:0002817	Abnormality of the upper limb	3767	KCNJ11	ORPHA:79134
HP:0002817	Abnormality of the upper limb	79731	NARS2	ORPHA:79134
HP:0002817	Abnormality of the upper limb	6833	ABCC8	ORPHA:79134
HP:0002817	Abnormality of the upper limb	175	AGA	ORPHA:93
HP:0002817	Abnormality of the upper limb	5339	PLEC	ORPHA:254361
HP:0002817	Abnormality of the upper limb	8294	H4C9	OMIM:619951
HP:0002817	Abnormality of the upper limb	54968	TMEM70	ORPHA:1194
HP:0002817	Abnormality of the upper limb	84466	MEGF10	OMIM:614399
HP:0002817	Abnormality of the upper limb	64127	NOD2	OMIM:186580
HP:0002817	Abnormality of the upper limb	64127	NOD2	ORPHA:90340
HP:0002817	Abnormality of the upper limb	9508	ADAMTS3	ORPHA:2136
HP:0002817	Abnormality of the upper limb	55315	SLC29A3	OMIM:602782
HP:0002817	Abnormality of the upper limb	23102	TBC1D2B	OMIM:619323
HP:0002817	Abnormality of the upper limb	2068	ERCC2	OMIM:610756
HP:0002817	Abnormality of the upper limb	2068	ERCC2	ORPHA:1466
HP:0002817	Abnormality of the upper limb	2073	ERCC5	ORPHA:1466
HP:0002817	Abnormality of the upper limb	134701	RIPPLY2	ORPHA:2311
HP:0002817	Abnormality of the upper limb	10683	DLL3	ORPHA:2311
HP:0002817	Abnormality of the upper limb	84667	HES7	ORPHA:2311
HP:0002817	Abnormality of the upper limb	145873	MESP2	ORPHA:2311
HP:0002817	Abnormality of the upper limb	23443	SLC35A3	OMIM:615553
HP:0002817	Abnormality of the upper limb	25914	RTTN	ORPHA:468631
HP:0002817	Abnormality of the upper limb	203068	TUBB	ORPHA:2505
HP:0002817	Abnormality of the upper limb	60	ACTB	ORPHA:64755
HP:0002817	Abnormality of the upper limb	55109	AGGF1	ORPHA:90308
HP:0002817	Abnormality of the upper limb	5744	PTHLH	ORPHA:93387
HP:0002817	Abnormality of the upper limb	2212	FCGR2A	OMIM:219700
HP:0002817	Abnormality of the upper limb	7040	TGFB1	OMIM:219700
HP:0002817	Abnormality of the upper limb	1080	CFTR	OMIM:219700
HP:0002817	Abnormality of the upper limb	3071	NCKAP1L	OMIM:618982
HP:0002817	Abnormality of the upper limb	114548	NLRP3	OMIM:191900
HP:0002817	Abnormality of the upper limb	7015	TERT	OMIM:614742
HP:0002817	Abnormality of the upper limb	7015	TERT	ORPHA:2032
HP:0002817	Abnormality of the upper limb	7015	TERT	OMIM:178500
HP:0002817	Abnormality of the upper limb	6794	STK11	OMIM:175200
HP:0002817	Abnormality of the upper limb	987	LRBA	OMIM:614700
HP:0002817	Abnormality of the upper limb	6578	SLCO2A1	OMIM:167100
HP:0002817	Abnormality of the upper limb	6440	SFTPC	ORPHA:2032
HP:0002817	Abnormality of the upper limb	6440	SFTPC	OMIM:178500
HP:0002817	Abnormality of the upper limb	729238	SFTPA2	ORPHA:2032
HP:0002817	Abnormality of the upper limb	729238	SFTPA2	OMIM:178500
HP:0002817	Abnormality of the upper limb	79991	STN1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	653509	SFTPA1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	21	ABCA3	ORPHA:2032
HP:0002817	Abnormality of the upper limb	727897	MUC5B	ORPHA:2032
HP:0002817	Abnormality of the upper limb	727897	MUC5B	OMIM:178500
HP:0002817	Abnormality of the upper limb	10144	FAM13A	ORPHA:2032
HP:0002817	Abnormality of the upper limb	23250	ATP11A	ORPHA:2032
HP:0002817	Abnormality of the upper limb	91039	DPP9	ORPHA:2032
HP:0002817	Abnormality of the upper limb	51750	RTEL1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	7012	TERC	ORPHA:2032
HP:0002817	Abnormality of the upper limb	5073	PARN	ORPHA:2032
HP:0002817	Abnormality of the upper limb	440275	EIF2AK4	ORPHA:199241
HP:0002817	Abnormality of the upper limb	1604	CD55	OMIM:226300
HP:0002817	Abnormality of the upper limb	10125	RASGRP1	OMIM:618534
HP:0002817	Abnormality of the upper limb	3248	HPGD	ORPHA:217059
HP:0002817	Abnormality of the upper limb	59067	IL21	OMIM:615767
HP:0002817	Abnormality of the upper limb	657	BMPR1A	ORPHA:79076
HP:0002817	Abnormality of the upper limb	7092	TLL1	ORPHA:99106
HP:0002817	Abnormality of the upper limb	274	BIN1	ORPHA:169186
HP:0002817	Abnormality of the upper limb	10290	SPEG	ORPHA:169186
HP:0002817	Abnormality of the upper limb	57459	GATAD2B	OMIM:615074
HP:0002817	Abnormality of the upper limb	57459	GATAD2B	ORPHA:363686
HP:0002817	Abnormality of the upper limb	1281	COL3A1	OMIM:618343
HP:0002817	Abnormality of the upper limb	6660	SOX5	OMIM:616803
HP:0002817	Abnormality of the upper limb	51520	LARS1	OMIM:615438
HP:0002817	Abnormality of the upper limb	116931	MED12L	OMIM:618872
HP:0002817	Abnormality of the upper limb	9772	TMEM94	OMIM:618316
HP:0002817	Abnormality of the upper limb	79971	WLS	OMIM:619648
HP:0002817	Abnormality of the upper limb	2556	GABRA3	OMIM:301091
HP:0002817	Abnormality of the upper limb	5373	PMM2	ORPHA:79318
HP:0002817	Abnormality of the upper limb	94	ACVRL1	OMIM:600376
HP:0002817	Abnormality of the upper limb	54345	SOX18	ORPHA:69735
HP:0002817	Abnormality of the upper limb	54345	SOX18	OMIM:607823
HP:0002817	Abnormality of the upper limb	2859	GPR35	ORPHA:171
HP:0002817	Abnormality of the upper limb	10507	SEMA4D	ORPHA:171
HP:0002817	Abnormality of the upper limb	4485	MST1	ORPHA:171
HP:0002817	Abnormality of the upper limb	55768	NGLY1	ORPHA:404454
HP:0002817	Abnormality of the upper limb	283989	TSEN54	ORPHA:2524
HP:0002817	Abnormality of the upper limb	116461	TSEN15	ORPHA:2524
HP:0002817	Abnormality of the upper limb	79042	TSEN34	ORPHA:2524
HP:0002817	Abnormality of the upper limb	80746	TSEN2	ORPHA:2524
HP:0002817	Abnormality of the upper limb	51091	SEPSECS	ORPHA:2524
HP:0002817	Abnormality of the upper limb	55149	MTPAP	OMIM:613672
HP:0002817	Abnormality of the upper limb	55149	MTPAP	ORPHA:254343
HP:0002817	Abnormality of the upper limb	6687	SPG7	OMIM:607259
HP:0002817	Abnormality of the upper limb	137492	VPS37A	ORPHA:319199
HP:0002817	Abnormality of the upper limb	137492	VPS37A	OMIM:614898
HP:0002817	Abnormality of the upper limb	5010	CLDN11	OMIM:619328
HP:0002817	Abnormality of the upper limb	781	CACNA2D1	OMIM:620149
HP:0002817	Abnormality of the upper limb	123263	MTFMT	OMIM:614947
HP:0002817	Abnormality of the upper limb	22854	NTNG1	ORPHA:3095
HP:0002817	Abnormality of the upper limb	9568	GABBR2	ORPHA:3095
HP:0002817	Abnormality of the upper limb	9568	GABBR2	OMIM:617903
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:177904
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:177901
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:98754
HP:0002817	Abnormality of the upper limb	2590	GALNT2	OMIM:618885
HP:0002817	Abnormality of the upper limb	3064	HTT	OMIM:617435
HP:0002817	Abnormality of the upper limb	6045	RNF2	OMIM:619460
HP:0002817	Abnormality of the upper limb	1501	CTNND2	ORPHA:281
HP:0002817	Abnormality of the upper limb	9037	SEMA5A	ORPHA:281
HP:0002817	Abnormality of the upper limb	6304	SATB1	OMIM:619229
HP:0002817	Abnormality of the upper limb	8493	PPM1D	OMIM:617450
HP:0002817	Abnormality of the upper limb	7486	WRN	ORPHA:902
HP:0002817	Abnormality of the upper limb	3800	KIF5C	OMIM:615282
HP:0002817	Abnormality of the upper limb	2332	FMR1	ORPHA:261483
HP:0002817	Abnormality of the upper limb	388662	SLC6A17	OMIM:616269
HP:0002817	Abnormality of the upper limb	406932	MIR140	OMIM:618618
HP:0002817	Abnormality of the upper limb	1801	DPH1	ORPHA:459061
HP:0002817	Abnormality of the upper limb	3762	KCNJ5	ORPHA:37553
HP:0003839	Abnormality of upper limb epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0003839	Abnormality of upper limb epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0003839	Abnormality of upper limb epiphysis morphology	2317	FLNB	ORPHA:56305
HP:0003839	Abnormality of upper limb epiphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0003839	Abnormality of upper limb epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0003839	Abnormality of upper limb epiphysis morphology	54808	DYM	OMIM:223800
HP:0003839	Abnormality of upper limb epiphysis morphology	1280	COL2A1	OMIM:271700
HP:0003839	Abnormality of upper limb epiphysis morphology	5447	POR	ORPHA:95699
HP:0003839	Abnormality of upper limb epiphysis morphology	2121	EVC	OMIM:225500
HP:0003839	Abnormality of upper limb epiphysis morphology	132884	EVC2	OMIM:225500
HP:0003839	Abnormality of upper limb epiphysis morphology	3549	IHH	OMIM:607778
HP:0003839	Abnormality of upper limb epiphysis morphology	3549	IHH	ORPHA:63446
HP:0003839	Abnormality of upper limb epiphysis morphology	633	BGN	OMIM:300106
HP:0003839	Abnormality of upper limb epiphysis morphology	2879	GPX4	OMIM:250220
HP:0003839	Abnormality of upper limb epiphysis morphology	4256	MGP	OMIM:245150
HP:0003839	Abnormality of upper limb epiphysis morphology	6299	SALL1	OMIM:107480
HP:0003839	Abnormality of upper limb epiphysis morphology	64135	IFIH1	OMIM:182250
HP:0003839	Abnormality of upper limb epiphysis morphology	8443	GNPAT	OMIM:222765
HP:0003839	Abnormality of upper limb epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0003839	Abnormality of upper limb epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0003839	Abnormality of upper limb epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0003839	Abnormality of upper limb epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0003839	Abnormality of upper limb epiphysis morphology	25839	COG4	OMIM:618150
HP:0003839	Abnormality of upper limb epiphysis morphology	5116	PCNT	OMIM:210720
HP:0003839	Abnormality of upper limb epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0003839	Abnormality of upper limb epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0003839	Abnormality of upper limb epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0003839	Abnormality of upper limb epiphysis morphology	3954	LETM1	OMIM:194190
HP:0003839	Abnormality of upper limb epiphysis morphology	7468	NSD2	OMIM:194190
HP:0003839	Abnormality of upper limb epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0003839	Abnormality of upper limb epiphysis morphology	8200	GDF5	OMIM:113100
HP:0003839	Abnormality of upper limb epiphysis morphology	658	BMPR1B	ORPHA:93384
HP:0003839	Abnormality of upper limb epiphysis morphology	3756	KCNH1	OMIM:611816
HP:0003839	Abnormality of upper limb epiphysis morphology	59341	TRPV4	ORPHA:93314
HP:0003839	Abnormality of upper limb epiphysis morphology	4882	NPR2	OMIM:602875
HP:0003839	Abnormality of upper limb epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0003839	Abnormality of upper limb epiphysis morphology	26160	IFT172	OMIM:615630
HP:0003839	Abnormality of upper limb epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0003839	Abnormality of upper limb epiphysis morphology	2131	EXT1	ORPHA:502
HP:0003839	Abnormality of upper limb epiphysis morphology	9742	IFT140	OMIM:617781
HP:0003839	Abnormality of upper limb epiphysis morphology	9742	IFT140	OMIM:266920
HP:0003839	Abnormality of upper limb epiphysis morphology	860	RUNX2	OMIM:119600
HP:0003839	Abnormality of upper limb epiphysis morphology	9321	TRIP11	OMIM:184260
HP:0003839	Abnormality of upper limb epiphysis morphology	375056	MIA3	OMIM:619269
HP:0003839	Abnormality of upper limb epiphysis morphology	51098	IFT52	OMIM:617102
HP:0003839	Abnormality of upper limb epiphysis morphology	2261	FGFR3	OMIM:602849
HP:0003839	Abnormality of upper limb epiphysis morphology	2316	FLNA	OMIM:309350
HP:0003839	Abnormality of upper limb epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0003839	Abnormality of upper limb epiphysis morphology	545	ATR	OMIM:210600
HP:0003839	Abnormality of upper limb epiphysis morphology	5573	PRKAR1A	OMIM:101800
HP:0003839	Abnormality of upper limb epiphysis morphology	6023	RMRP	OMIM:250460
HP:0003839	Abnormality of upper limb epiphysis morphology	6399	TRAPPC2	ORPHA:93284
HP:0003839	Abnormality of upper limb epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0003839	Abnormality of upper limb epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0003839	Abnormality of upper limb epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0003839	Abnormality of upper limb epiphysis morphology	1311	COMP	OMIM:177170
HP:0003839	Abnormality of upper limb epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0003839	Abnormality of upper limb epiphysis morphology	10847	SRCAP	OMIM:136140
HP:0003839	Abnormality of upper limb epiphysis morphology	415	ARSL	ORPHA:79345
HP:0003839	Abnormality of upper limb epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0003839	Abnormality of upper limb epiphysis morphology	4883	NPR3	OMIM:619543
HP:0003839	Abnormality of upper limb epiphysis morphology	51715	RAB23	OMIM:201000
HP:0003841	Fragmented epiphyses of the upper limbs	1297	COL9A1	ORPHA:166002
HP:0003841	Fragmented epiphyses of the upper limbs	1298	COL9A2	ORPHA:166002
HP:0003841	Fragmented epiphyses of the upper limbs	1299	COL9A3	ORPHA:166002
HP:0003842	Irregular epiphyses of the upper limbs	54928	BPNT2	OMIM:614078
HP:0009809	Abnormal upper limb metaphysis morphology	6137	RPL13	OMIM:618728
HP:0009809	Abnormal upper limb metaphysis morphology	6399	TRAPPC2	ORPHA:93284
HP:0009809	Abnormal upper limb metaphysis morphology	5251	PHEX	ORPHA:89936
HP:0009809	Abnormal upper limb metaphysis morphology	59341	TRPV4	ORPHA:93314
HP:0009809	Abnormal upper limb metaphysis morphology	2778	GNAS	ORPHA:94089
HP:0009809	Abnormal upper limb metaphysis morphology	8675	STX16	ORPHA:94089
HP:0009809	Abnormal upper limb metaphysis morphology	2146	EZH2	OMIM:277590
HP:0009809	Abnormal upper limb metaphysis morphology	6638	SNRPN	ORPHA:177910
HP:0009809	Abnormal upper limb metaphysis morphology	4692	NDN	ORPHA:177910
HP:0009809	Abnormal upper limb metaphysis morphology	54551	MAGEL2	ORPHA:177910
HP:0009809	Abnormal upper limb metaphysis morphology	9401	RECQL4	ORPHA:221016
HP:0009809	Abnormal upper limb metaphysis morphology	4318	MMP9	ORPHA:1040
HP:0009809	Abnormal upper limb metaphysis morphology	4322	MMP13	ORPHA:1040
HP:0009809	Abnormal upper limb metaphysis morphology	64682	ANAPC1	ORPHA:221008
HP:0009809	Abnormal upper limb metaphysis morphology	1311	COMP	OMIM:177170
HP:0009809	Abnormal upper limb metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0009809	Abnormal upper limb metaphysis morphology	1280	COL2A1	ORPHA:166011
HP:0003849	Flared upper limb metaphysis	59341	TRPV4	OMIM:156530
HP:0003849	Flared upper limb metaphysis	2146	EZH2	OMIM:277590
HP:0003850	Upper-limb metaphyseal irregularity	6137	RPL13	OMIM:618728
HP:0003850	Upper-limb metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0003850	Upper-limb metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0003855	Spurred metaphyses of the upper limbs	6399	TRAPPC2	ORPHA:93284
HP:0003856	Upper limb metaphyseal widening	5251	PHEX	ORPHA:89936
HP:0003856	Upper limb metaphyseal widening	59341	TRPV4	OMIM:156530
HP:0003856	Upper limb metaphyseal widening	2146	EZH2	OMIM:277590
HP:0009808	Anomaly of the upper limb diaphyses	83550	GPR101	ORPHA:963
HP:0009808	Anomaly of the upper limb diaphyses	9049	AIP	ORPHA:963
HP:0009808	Anomaly of the upper limb diaphyses	5593	PRKG2	OMIM:619636
HP:0003859	Cortical diaphyseal thickening of the upper limbs	83550	GPR101	ORPHA:963
HP:0003859	Cortical diaphyseal thickening of the upper limbs	9049	AIP	ORPHA:963
HP:0003862	Absent humerus	2317	FLNB	ORPHA:56305
HP:0003863	Angulated humerus	649	BMP1	OMIM:614856
HP:0003863	Angulated humerus	90993	CREB3L1	OMIM:616229
HP:0003864	Bifid humerus	1836	SLC26A2	OMIM:256050
HP:0003865	Bowed humerus	100151683	RNU4ATAC	OMIM:210710
HP:0003865	Bowed humerus	3930	LBR	OMIM:618019
HP:0003865	Bowed humerus	2317	FLNB	OMIM:272460
HP:0003865	Bowed humerus	6678	SPARC	OMIM:616507
HP:0003865	Bowed humerus	9851	KIAA0753	OMIM:619479
HP:0003865	Bowed humerus	3911	LAMA5	OMIM:620076
HP:0003865	Bowed humerus	126792	B3GALT6	OMIM:609465
HP:0003865	Bowed humerus	340419	RSPO2	OMIM:618022
HP:0003874	Humerus varus	538	ATP7A	ORPHA:198
HP:0003879	Humeral pseudarthrosis	10847	SRCAP	ORPHA:2044
HP:0003883	Tapered humerus	2317	FLNB	OMIM:150250
HP:0003886	Wide humerus	26175	LYSET	OMIM:619345
HP:0003887	Abnormal humeral head morphology	1280	COL2A1	ORPHA:166011
HP:0003887	Abnormal humeral head morphology	79158	GNPTAB	OMIM:252500
HP:0003888	Flattened humeral heads	1280	COL2A1	ORPHA:166011
HP:0003889	Abnormal deltoid tuberosity morphology	5593	PRKG2	OMIM:619636
HP:0003890	Prominent deltoid tuberosities	5593	PRKG2	OMIM:619636
HP:0003891	Abnormality of the humeral epiphysis	4796	TONSL	ORPHA:93357
HP:0003891	Abnormality of the humeral epiphysis	2317	FLNB	ORPHA:56305
HP:0003891	Abnormality of the humeral epiphysis	54808	DYM	OMIM:223800
HP:0003891	Abnormality of the humeral epiphysis	8443	GNPAT	OMIM:222765
HP:0003895	Flattened humeral epiphyses	4796	TONSL	ORPHA:93357
HP:0003897	Irregular ossification of the humeral epiphyses	2317	FLNB	ORPHA:56305
HP:0003897	Irregular ossification of the humeral epiphyses	54808	DYM	OMIM:223800
HP:0001566	Widely-spaced maxillary central incisors	257	ALX3	OMIM:136760
HP:0001566	Widely-spaced maxillary central incisors	6045	RNF2	OMIM:619460
HP:0001566	Widely-spaced maxillary central incisors	57459	GATAD2B	ORPHA:363686
HP:0001566	Widely-spaced maxillary central incisors	29123	ANKRD11	OMIM:148050
HP:0001566	Widely-spaced maxillary central incisors	29123	ANKRD11	ORPHA:2332
HP:0001566	Widely-spaced maxillary central incisors	22856	CHSY1	ORPHA:363417
HP:0001566	Widely-spaced maxillary central incisors	546	ATRX	OMIM:309580
HP:0001566	Widely-spaced maxillary central incisors	546	ATRX	OMIM:301040
HP:0001566	Widely-spaced maxillary central incisors	10274	STAG1	ORPHA:502434
HP:0001566	Widely-spaced maxillary central incisors	1788	DNMT3A	ORPHA:404443
HP:0001566	Widely-spaced maxillary central incisors	158326	FREM1	OMIM:608980
HP:0001566	Widely-spaced maxillary central incisors	10060	ABCC9	OMIM:619719
HP:0000704	Periodontitis	1075	CTSC	OMIM:170650
HP:0000704	Periodontitis	1075	CTSC	OMIM:245010
HP:0000704	Periodontitis	1075	CTSC	OMIM:245000
HP:0000704	Periodontitis	1075	CTSC	ORPHA:678
HP:0000704	Periodontitis	847	CAT	ORPHA:926
HP:0000704	Periodontitis	7852	CXCR4	ORPHA:51636
HP:0000704	Periodontitis	55343	SLC35C1	ORPHA:99843
HP:0000704	Periodontitis	1281	COL3A1	OMIM:130050
HP:0000704	Periodontitis	1281	COL3A1	ORPHA:286
HP:0000704	Periodontitis	3689	ITGB2	OMIM:116920
HP:0000704	Periodontitis	716	C1S	ORPHA:75392
HP:0000704	Periodontitis	716	C1S	OMIM:617174
HP:0000704	Periodontitis	715	C1R	ORPHA:75392
HP:0000704	Periodontitis	715	C1R	OMIM:130080
HP:0000704	Periodontitis	55612	FERMT1	ORPHA:2908
HP:0000704	Periodontitis	55612	FERMT1	OMIM:173650
HP:0000704	Periodontitis	2248	FGF3	ORPHA:2791
HP:0000704	Periodontitis	92344	GORAB	OMIM:231070
HP:0000704	Periodontitis	8546	AP3B1	OMIM:608233
HP:0000704	Periodontitis	5340	PLG	ORPHA:722
HP:0000704	Periodontitis	5340	PLG	OMIM:217090
HP:0000704	Periodontitis	1130	LYST	ORPHA:167
HP:0000704	Periodontitis	1130	LYST	OMIM:214500
HP:0000704	Periodontitis	10312	TCIRG1	ORPHA:486
HP:0000704	Periodontitis	1991	ELANE	ORPHA:486
HP:0000704	Periodontitis	1991	ELANE	ORPHA:2686
HP:0000704	Periodontitis	2672	GFI1	ORPHA:486
HP:0000704	Periodontitis	6729	SRP54	ORPHA:486
HP:0000704	Periodontitis	81570	CLPB	ORPHA:486
HP:0000704	Periodontitis	375056	MIA3	OMIM:619269
HP:0000704	Periodontitis	80169	CTC1	ORPHA:1775
HP:0000704	Periodontitis	26277	TINF2	ORPHA:1775
HP:0000704	Periodontitis	55651	NHP2	ORPHA:1775
HP:0000704	Periodontitis	79650	USB1	ORPHA:1775
HP:0000704	Periodontitis	55135	WRAP53	ORPHA:1775
HP:0000704	Periodontitis	51750	RTEL1	ORPHA:1775
HP:0000704	Periodontitis	4869	NPM1	ORPHA:1775
HP:0000704	Periodontitis	7012	TERC	ORPHA:1775
HP:0000704	Periodontitis	55505	NOP10	ORPHA:1775
HP:0000704	Periodontitis	5073	PARN	ORPHA:1775
HP:0000704	Periodontitis	7015	TERT	ORPHA:1775
HP:0000704	Periodontitis	1736	DKC1	ORPHA:1775
HP:0000704	Periodontitis	7298	TYMS	ORPHA:1775
HP:0000704	Periodontitis	4853	NOTCH2	ORPHA:955
HP:0000704	Periodontitis	165	AEBP1	ORPHA:536532
HP:0000704	Periodontitis	4952	OCRL	ORPHA:534
HP:0000704	Periodontitis	2542	SLC37A4	ORPHA:79259
HP:0006302	Dagger-shaped pulp calcifications	54757	FAM20A	OMIM:204690
HP:0000692	Tooth malposition	9949	AMMECR1	OMIM:300990
HP:0000692	Tooth malposition	875	CBS	ORPHA:394
HP:0000692	Tooth malposition	875	CBS	OMIM:236200
HP:0000692	Tooth malposition	8243	SMC1A	OMIM:301044
HP:0000692	Tooth malposition	6134	RPL10	OMIM:300998
HP:0000692	Tooth malposition	6134	RPL10	ORPHA:435938
HP:0000692	Tooth malposition	1281	COL3A1	OMIM:618343
HP:0000692	Tooth malposition	341640	FREM2	ORPHA:2052
HP:0000692	Tooth malposition	80144	FRAS1	ORPHA:2052
HP:0000692	Tooth malposition	80144	FRAS1	OMIM:219000
HP:0000692	Tooth malposition	23426	GRIP1	ORPHA:2052
HP:0000692	Tooth malposition	23013	SPEN	OMIM:619312
HP:0000692	Tooth malposition	5351	PLOD1	OMIM:225400
HP:0000692	Tooth malposition	5648	MASP1	OMIM:257920
HP:0000692	Tooth malposition	23314	SATB2	ORPHA:251028
HP:0000692	Tooth malposition	23314	SATB2	ORPHA:251019
HP:0000692	Tooth malposition	23314	SATB2	OMIM:612313
HP:0000692	Tooth malposition	5332	PLCB4	OMIM:614669
HP:0000692	Tooth malposition	5332	PLCB4	ORPHA:137888
HP:0000692	Tooth malposition	6418	SET	OMIM:618106
HP:0000692	Tooth malposition	50814	NSDHL	ORPHA:251383
HP:0000692	Tooth malposition	50814	NSDHL	OMIM:300831
HP:0000692	Tooth malposition	3481	IGF2	ORPHA:231140
HP:0000692	Tooth malposition	283120	H19	ORPHA:231140
HP:0000692	Tooth malposition	23118	TAB2	ORPHA:228410
HP:0000692	Tooth malposition	1387	CREBBP	ORPHA:353281
HP:0000692	Tooth malposition	1387	CREBBP	OMIM:180849
HP:0000692	Tooth malposition	1387	CREBBP	ORPHA:353277
HP:0000692	Tooth malposition	91179	SCARF2	OMIM:600920
HP:0000692	Tooth malposition	4854	NOTCH3	OMIM:130720
HP:0000692	Tooth malposition	4854	NOTCH3	ORPHA:2789
HP:0000692	Tooth malposition	1278	COL1A2	ORPHA:230851
HP:0000692	Tooth malposition	80816	ASXL3	OMIM:615485
HP:0000692	Tooth malposition	80816	ASXL3	ORPHA:352577
HP:0000692	Tooth malposition	55209	SETD5	OMIM:615761
HP:0000692	Tooth malposition	10026	PIGK	OMIM:618879
HP:0000692	Tooth malposition	4000	LMNA	OMIM:248370
HP:0000692	Tooth malposition	4000	LMNA	ORPHA:740
HP:0000692	Tooth malposition	1289	COL5A1	OMIM:619329
HP:0000692	Tooth malposition	5190	PEX6	OMIM:616617
HP:0000692	Tooth malposition	51114	ZDHHC9	ORPHA:776
HP:0000692	Tooth malposition	65109	UPF3B	ORPHA:776
HP:0000692	Tooth malposition	9968	MED12	ORPHA:776
HP:0000692	Tooth malposition	9968	MED12	ORPHA:93932
HP:0000692	Tooth malposition	9968	MED12	OMIM:309520
HP:0000692	Tooth malposition	9968	MED12	OMIM:305450
HP:0000692	Tooth malposition	57231	SNX14	ORPHA:397709
HP:0000692	Tooth malposition	57231	SNX14	OMIM:616354
HP:0000692	Tooth malposition	6660	SOX5	ORPHA:313892
HP:0000692	Tooth malposition	6660	SOX5	OMIM:616803
HP:0000692	Tooth malposition	56992	KIF15	ORPHA:261323
HP:0000692	Tooth malposition	4621	MYH3	OMIM:193700
HP:0000692	Tooth malposition	54496	PRMT7	OMIM:617157
HP:0000692	Tooth malposition	85358	SHANK3	ORPHA:48652
HP:0000692	Tooth malposition	816	CAMK2B	OMIM:617799
HP:0000692	Tooth malposition	3572	IL6ST	OMIM:618523
HP:0000692	Tooth malposition	201163	FLCN	OMIM:610883
HP:0000692	Tooth malposition	64131	XYLT1	OMIM:615777
HP:0000692	Tooth malposition	84100	ARL6	OMIM:209900
HP:0000692	Tooth malposition	79140	CCDC28B	OMIM:209900
HP:0000692	Tooth malposition	582	BBS1	OMIM:209900
HP:0000692	Tooth malposition	29940	DSE	OMIM:615539
HP:0000692	Tooth malposition	3759	KCNJ2	OMIM:170390
HP:0000692	Tooth malposition	3759	KCNJ2	ORPHA:37553
HP:0000692	Tooth malposition	1717	DHCR7	OMIM:270400
HP:0000692	Tooth malposition	7703	PCGF2	OMIM:618371
HP:0000692	Tooth malposition	57190	SELENON	ORPHA:2020
HP:0000692	Tooth malposition	58	ACTA1	ORPHA:2020
HP:0000692	Tooth malposition	4633	MYL2	ORPHA:2020
HP:0000692	Tooth malposition	3679	ITGA7	ORPHA:2020
HP:0000692	Tooth malposition	7169	TPM2	ORPHA:2020
HP:0000692	Tooth malposition	9200	HACD1	ORPHA:2020
HP:0000692	Tooth malposition	7170	TPM3	ORPHA:2020
HP:0000692	Tooth malposition	51776	MAP3K20	ORPHA:2020
HP:0000692	Tooth malposition	5424	POLD1	OMIM:615381
HP:0000692	Tooth malposition	23327	NEDD4L	OMIM:617201
HP:0000692	Tooth malposition	4015	LOX	OMIM:617168
HP:0000692	Tooth malposition	26040	SETBP1	OMIM:616078
HP:0000692	Tooth malposition	25	ABL1	OMIM:617602
HP:0000692	Tooth malposition	545	ATR	OMIM:210600
HP:0000692	Tooth malposition	4591	TRIM37	OMIM:253250
HP:0000692	Tooth malposition	23384	SPECC1L	OMIM:145420
HP:0000692	Tooth malposition	2783	GNB2	OMIM:619503
HP:0000692	Tooth malposition	1906	EDN1	ORPHA:137888
HP:0000692	Tooth malposition	2697	GJA1	OMIM:257850
HP:0000692	Tooth malposition	6611	SMS	ORPHA:3063
HP:0000692	Tooth malposition	6611	SMS	OMIM:309583
HP:0000692	Tooth malposition	10269	ZMPSTE24	OMIM:608612
HP:0000692	Tooth malposition	10269	ZMPSTE24	ORPHA:740
HP:0000692	Tooth malposition	9895	TECPR2	OMIM:615031
HP:0000692	Tooth malposition	9895	TECPR2	ORPHA:320385
HP:0000692	Tooth malposition	57498	KIDINS220	OMIM:617296
HP:0000692	Tooth malposition	57003	CCDC47	OMIM:618268
HP:0000692	Tooth malposition	3590	IL11RA	OMIM:614188
HP:0000692	Tooth malposition	7204	TRIO	OMIM:618825
HP:0000692	Tooth malposition	7204	TRIO	OMIM:617061
HP:0000692	Tooth malposition	7204	TRIO	ORPHA:476126
HP:0000692	Tooth malposition	1909	EDNRA	OMIM:616367
HP:0000692	Tooth malposition	4247	MGAT2	ORPHA:79329
HP:0000692	Tooth malposition	4841	NONO	OMIM:300967
HP:0000692	Tooth malposition	4841	NONO	ORPHA:466791
HP:0000692	Tooth malposition	8567	MADD	OMIM:619005
HP:0000692	Tooth malposition	6197	RPS6KA3	OMIM:300844
HP:0000692	Tooth malposition	163175	LGI4	OMIM:617468
HP:0000692	Tooth malposition	51341	ZBTB7A	OMIM:619769
HP:0000692	Tooth malposition	113246	C12orf57	OMIM:218340
HP:0000692	Tooth malposition	139285	AMER1	OMIM:300373
HP:0000692	Tooth malposition	8815	BANF1	OMIM:614008
HP:0000692	Tooth malposition	3643	INSR	ORPHA:769
HP:0000692	Tooth malposition	11141	IL1RAPL1	OMIM:300143
HP:0000692	Tooth malposition	284361	EMC10	OMIM:619264
HP:0000692	Tooth malposition	4921	DDR2	OMIM:618175
HP:0000692	Tooth malposition	2260	FGFR1	OMIM:101600
HP:0000692	Tooth malposition	529	ATP6V1E1	OMIM:617402
HP:0000692	Tooth malposition	6878	TAF6	OMIM:617126
HP:0000692	Tooth malposition	7227	TRPS1	OMIM:190351
HP:0000692	Tooth malposition	3762	KCNJ5	ORPHA:37553
HP:0000692	Tooth malposition	51574	LARP7	OMIM:615071
HP:0000692	Tooth malposition	51574	LARP7	ORPHA:319671
HP:0000692	Tooth malposition	8367	H4C5	OMIM:619950
HP:0000692	Tooth malposition	9759	HDAC4	OMIM:619797
HP:0000692	Tooth malposition	1859	DYRK1A	ORPHA:268261
HP:0000692	Tooth malposition	60529	ALX4	OMIM:613451
HP:0000692	Tooth malposition	23241	PACS2	OMIM:618067
HP:0000692	Tooth malposition	81607	NECTIN4	OMIM:613573
HP:0000692	Tooth malposition	51126	NAA20	OMIM:619717
HP:0000692	Tooth malposition	23394	ADNP	OMIM:615873
HP:0000692	Tooth malposition	57539	WDR35	OMIM:613610
HP:0000692	Tooth malposition	145173	B3GLCT	ORPHA:709
HP:0000692	Tooth malposition	145173	B3GLCT	OMIM:261540
HP:0000692	Tooth malposition	23028	KDM1A	OMIM:616728
HP:0000692	Tooth malposition	23028	KDM1A	ORPHA:477993
HP:0000692	Tooth malposition	26115	TANC2	OMIM:618906
HP:0000692	Tooth malposition	4125	MAN2B1	ORPHA:309282
HP:0000692	Tooth malposition	4125	MAN2B1	OMIM:248500
HP:0000692	Tooth malposition	4054	LTBP3	OMIM:601216
HP:0000692	Tooth malposition	55869	HDAC8	OMIM:300882
HP:0000692	Tooth malposition	55869	HDAC8	ORPHA:199
HP:0000692	Tooth malposition	80232	WDR26	ORPHA:513456
HP:0000692	Tooth malposition	80232	WDR26	OMIM:617616
HP:0000692	Tooth malposition	1747	DLX3	OMIM:190320
HP:0000692	Tooth malposition	1747	DLX3	ORPHA:3352
HP:0000692	Tooth malposition	9578	CDC42BPB	OMIM:619841
HP:0000692	Tooth malposition	10300	KATNB1	OMIM:616212
HP:0000692	Tooth malposition	9442	MED27	OMIM:619286
HP:0000692	Tooth malposition	8085	KMT2D	ORPHA:2322
HP:0000692	Tooth malposition	10978	CLP1	OMIM:615803
HP:0000692	Tooth malposition	23097	CDK19	OMIM:618916
HP:0000692	Tooth malposition	6904	TBCD	ORPHA:496641
HP:0000692	Tooth malposition	6904	TBCD	OMIM:617193
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:98794
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:98795
HP:0000692	Tooth malposition	7337	UBE3A	OMIM:105830
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:411511
HP:0000692	Tooth malposition	4948	OCA2	ORPHA:98794
HP:0000692	Tooth malposition	90	ACVR1	OMIM:135100
HP:0000692	Tooth malposition	55777	MBD5	OMIM:156200
HP:0000692	Tooth malposition	51132	RLIM	OMIM:300978
HP:0000692	Tooth malposition	23221	RHOBTB2	OMIM:618004
HP:0000692	Tooth malposition	3899	AFF3	OMIM:619297
HP:0000692	Tooth malposition	9739	SETD1A	OMIM:619056
HP:0000692	Tooth malposition	92255	LMBRD2	OMIM:619694
HP:0000692	Tooth malposition	9469	CHST3	OMIM:143095
HP:0000692	Tooth malposition	7965	AIMP2	OMIM:618006
HP:0000692	Tooth malposition	23389	MED13L	ORPHA:369891
HP:0000692	Tooth malposition	83550	GPR101	ORPHA:963
HP:0000692	Tooth malposition	83550	GPR101	OMIM:300942
HP:0000692	Tooth malposition	9049	AIP	ORPHA:963
HP:0000692	Tooth malposition	55764	IFT122	OMIM:218330
HP:0000692	Tooth malposition	2248	FGF3	ORPHA:90024
HP:0000692	Tooth malposition	2248	FGF3	OMIM:610706
HP:0000692	Tooth malposition	9496	TBX4	ORPHA:261279
HP:0000692	Tooth malposition	10087	CERT1	OMIM:616351
HP:0000692	Tooth malposition	5277	PIGA	OMIM:300868
HP:0000692	Tooth malposition	5277	PIGA	OMIM:301072
HP:0000692	Tooth malposition	2720	GLB1	OMIM:253010
HP:0000692	Tooth malposition	3340	NDST1	OMIM:616116
HP:0000692	Tooth malposition	6304	SATB1	OMIM:619229
HP:0000692	Tooth malposition	79718	TBL1XR1	ORPHA:487825
HP:0000692	Tooth malposition	79718	TBL1XR1	OMIM:602342
HP:0000692	Tooth malposition	23476	BRD4	ORPHA:199
HP:0000692	Tooth malposition	9126	SMC3	ORPHA:199
HP:0000692	Tooth malposition	25836	NIPBL	ORPHA:199
HP:0000692	Tooth malposition	25836	NIPBL	OMIM:122470
HP:0000692	Tooth malposition	5885	RAD21	ORPHA:199
HP:0000692	Tooth malposition	9851	KIAA0753	OMIM:619479
HP:0000692	Tooth malposition	94005	PIGS	OMIM:618143
HP:0000692	Tooth malposition	5792	PTPRF	OMIM:616001
HP:0000692	Tooth malposition	2588	GALNS	OMIM:253000
HP:0000692	Tooth malposition	1001	CDH3	OMIM:225280
HP:0000692	Tooth malposition	1001	CDH3	ORPHA:1897
HP:0000692	Tooth malposition	116115	ZNF526	OMIM:619877
HP:0000692	Tooth malposition	3098	HK1	OMIM:618547
HP:0000692	Tooth malposition	6638	SNRPN	OMIM:105830
HP:0000692	Tooth malposition	57465	TBC1D24	ORPHA:79500
HP:0000692	Tooth malposition	2255	FGF10	OMIM:620193
HP:0000692	Tooth malposition	8314	BAP1	OMIM:619762
HP:0000692	Tooth malposition	5594	MAPK1	OMIM:619087
HP:0000692	Tooth malposition	55755	CDK5RAP2	OMIM:604804
HP:0000692	Tooth malposition	51098	IFT52	OMIM:617102
HP:0000692	Tooth malposition	57688	ZSWIM6	OMIM:617865
HP:0000692	Tooth malposition	5500	PPP1CB	OMIM:617506
HP:0000692	Tooth malposition	6748	SSR4	ORPHA:370927
HP:0000692	Tooth malposition	6748	SSR4	OMIM:300934
HP:0000692	Tooth malposition	4677	NARS1	OMIM:619092
HP:0000692	Tooth malposition	3423	IDS	OMIM:309900
HP:0000692	Tooth malposition	2990	GUSB	OMIM:253220
HP:0000692	Tooth malposition	9487	PIGL	OMIM:280000
HP:0000692	Tooth malposition	284058	KANSL1	OMIM:610443
HP:0000692	Tooth malposition	1107	CHD3	OMIM:618205
HP:0000692	Tooth malposition	4204	MECP2	OMIM:300260
HP:0000692	Tooth malposition	9742	IFT140	OMIM:266920
HP:0000692	Tooth malposition	1968	EIF2S3	OMIM:300148
HP:0000692	Tooth malposition	112752	IFT43	OMIM:614099
HP:0000692	Tooth malposition	5587	PRKD1	OMIM:617364
HP:0000692	Tooth malposition	2702	GJA5	OMIM:612474
HP:0000692	Tooth malposition	2703	GJA8	OMIM:612474
HP:0000692	Tooth malposition	1801	DPH1	ORPHA:459061
HP:0000692	Tooth malposition	4088	SMAD3	ORPHA:284984
HP:0000692	Tooth malposition	4088	SMAD3	OMIM:613795
HP:0000692	Tooth malposition	2074	ERCC6	OMIM:133540
HP:0000692	Tooth malposition	2673	GFPT1	OMIM:608931
HP:0000692	Tooth malposition	1145	CHRNE	OMIM:608931
HP:0000692	Tooth malposition	2972	BRF1	OMIM:616202
HP:0000692	Tooth malposition	2972	BRF1	ORPHA:444072
HP:0000692	Tooth malposition	79912	PYROXD1	OMIM:617258
HP:0000692	Tooth malposition	8818	DPM2	ORPHA:329178
HP:0000692	Tooth malposition	23363	OBSL1	OMIM:612921
HP:0000692	Tooth malposition	10060	ABCC9	OMIM:619719
HP:0000692	Tooth malposition	4487	MSX1	ORPHA:199306
HP:0000692	Tooth malposition	4487	MSX1	ORPHA:99798
HP:0000692	Tooth malposition	5818	NECTIN1	ORPHA:199306
HP:0000692	Tooth malposition	1739	DLG1	ORPHA:199306
HP:0000692	Tooth malposition	652	BMP4	ORPHA:199306
HP:0000692	Tooth malposition	8626	TP63	ORPHA:199306
HP:0000692	Tooth malposition	999	CDH1	ORPHA:199306
HP:0000692	Tooth malposition	5156	PDGFRA	ORPHA:199306
HP:0000692	Tooth malposition	3664	IRF6	ORPHA:199306
HP:0000692	Tooth malposition	3664	IRF6	ORPHA:99798
HP:0000692	Tooth malposition	9411	ARHGAP29	ORPHA:199306
HP:0000692	Tooth malposition	1748	DLX4	ORPHA:199306
HP:0000692	Tooth malposition	998	CDC42	OMIM:616737
HP:0000692	Tooth malposition	998	CDC42	ORPHA:487796
HP:0000692	Tooth malposition	1161	ERCC8	OMIM:216400
HP:0000692	Tooth malposition	6595	SMARCA2	OMIM:619293
HP:0000692	Tooth malposition	1146	CHRNG	OMIM:265000
HP:0000692	Tooth malposition	7102	TSPAN7	OMIM:300210
HP:0000692	Tooth malposition	6452	SH3BP2	OMIM:118400
HP:0000692	Tooth malposition	4141	MARS1	OMIM:619692
HP:0000692	Tooth malposition	10265	IRX5	OMIM:611174
HP:0000692	Tooth malposition	51109	RDH11	OMIM:616108
HP:0000692	Tooth malposition	51109	RDH11	ORPHA:436245
HP:0000692	Tooth malposition	1009	CDH11	OMIM:211380
HP:0000692	Tooth malposition	444	ASPH	OMIM:601552
HP:0000692	Tooth malposition	2778	GNAS	ORPHA:562
HP:0000692	Tooth malposition	80185	TTI2	OMIM:615541
HP:0000692	Tooth malposition	7403	KDM6A	OMIM:300867
HP:0000692	Tooth malposition	1954	MEGF8	OMIM:614976
HP:0000692	Tooth malposition	79633	FAT4	OMIM:615546
HP:0000692	Tooth malposition	8642	DCHS1	OMIM:601390
HP:0000692	Tooth malposition	54	ACP5	ORPHA:1855
HP:0000692	Tooth malposition	57822	GRHL3	OMIM:606713
HP:0000692	Tooth malposition	10312	TCIRG1	ORPHA:210110
HP:0000692	Tooth malposition	1186	CLCN7	ORPHA:210110
HP:0000692	Tooth malposition	9842	PLEKHM1	ORPHA:210110
HP:0000692	Tooth malposition	6938	TCF12	OMIM:615314
HP:0000692	Tooth malposition	117581	TWIST2	OMIM:209885
HP:0000692	Tooth malposition	4534	MTM1	OMIM:310400
HP:0000692	Tooth malposition	2736	GLI2	OMIM:610829
HP:0000692	Tooth malposition	79228	THOC6	ORPHA:363444
HP:0000692	Tooth malposition	79228	THOC6	OMIM:613680
HP:0000692	Tooth malposition	285590	SH3PXD2B	OMIM:249420
HP:0000692	Tooth malposition	5075	PAX1	OMIM:615560
HP:0000692	Tooth malposition	4041	LRP5	OMIM:144750
HP:0000692	Tooth malposition	6497	SKI	OMIM:182212
HP:0000692	Tooth malposition	5295	PIK3R1	OMIM:269880
HP:0000692	Tooth malposition	387	RHOA	OMIM:618727
HP:0000692	Tooth malposition	128178	EDARADD	ORPHA:99798
HP:0000692	Tooth malposition	5083	PAX9	ORPHA:99798
HP:0000692	Tooth malposition	7341	SUMO1	ORPHA:99798
HP:0000692	Tooth malposition	80326	WNT10A	ORPHA:99798
HP:0000692	Tooth malposition	1896	EDA	ORPHA:99798
HP:0000692	Tooth malposition	8313	AXIN2	ORPHA:99798
HP:0000692	Tooth malposition	4040	LRP6	ORPHA:99798
HP:0000692	Tooth malposition	7039	TGFA	ORPHA:99798
HP:0000692	Tooth malposition	7480	WNT10B	ORPHA:99798
HP:0000692	Tooth malposition	3339	HSPG2	ORPHA:800
HP:0000692	Tooth malposition	1795	DOCK3	OMIM:618292
HP:0000692	Tooth malposition	1513	CTSK	ORPHA:763
HP:0000692	Tooth malposition	27161	AGO2	OMIM:619149
HP:0000692	Tooth malposition	672	BRCA1	OMIM:617883
HP:0000692	Tooth malposition	91252	SLC39A13	OMIM:612350
HP:0000692	Tooth malposition	4654	MYOD1	OMIM:618975
HP:0000692	Tooth malposition	2719	GPC3	OMIM:312870
HP:0000692	Tooth malposition	2239	GPC4	OMIM:312870
HP:0000692	Tooth malposition	5130	PCYT1A	OMIM:608940
HP:0000692	Tooth malposition	6654	SOS1	OMIM:610733
HP:0000692	Tooth malposition	5604	MAP2K1	OMIM:163950
HP:0000692	Tooth malposition	5781	PTPN11	OMIM:163950
HP:0000692	Tooth malposition	50964	SOST	OMIM:269500
HP:0000692	Tooth malposition	57589	RIC1	OMIM:618761
HP:0000692	Tooth malposition	23347	SMCHD1	ORPHA:2250
HP:0000692	Tooth malposition	56915	EXOSC5	OMIM:619576
HP:0000692	Tooth malposition	5745	PTH1R	OMIM:156400
HP:0000692	Tooth malposition	8260	NAA10	OMIM:309800
HP:0000692	Tooth malposition	54880	BCOR	OMIM:309800
HP:0000692	Tooth malposition	54880	BCOR	ORPHA:2712
HP:0000692	Tooth malposition	7518	XRCC4	OMIM:616541
HP:0000692	Tooth malposition	22856	CHSY1	ORPHA:363417
HP:0000692	Tooth malposition	6603	SMARCD2	OMIM:617475
HP:0000692	Tooth malposition	56172	ANKH	OMIM:123000
HP:0000692	Tooth malposition	22930	RAB3GAP1	ORPHA:1387
HP:0000692	Tooth malposition	25782	RAB3GAP2	ORPHA:1387
HP:0000692	Tooth malposition	25782	RAB3GAP2	OMIM:212720
HP:0000692	Tooth malposition	8239	USP9X	ORPHA:480880
HP:0000692	Tooth malposition	5430	POLR2A	OMIM:618603
HP:0000692	Tooth malposition	9839	ZEB2	OMIM:235730
HP:0000692	Tooth malposition	9839	ZEB2	ORPHA:261537
HP:0000692	Tooth malposition	9839	ZEB2	ORPHA:261552
HP:0000692	Tooth malposition	4848	CNOT2	OMIM:618608
HP:0000692	Tooth malposition	6925	TCF4	ORPHA:2896
HP:0000692	Tooth malposition	2200	FBN1	OMIM:608328
HP:0000692	Tooth malposition	54828	BCAS3	OMIM:619641
HP:0000692	Tooth malposition	5718	PSMD12	ORPHA:529962
HP:0000692	Tooth malposition	2186	BPTF	ORPHA:529962
HP:0000692	Tooth malposition	2316	FLNA	OMIM:309350
HP:0000692	Tooth malposition	2316	FLNA	ORPHA:2484
HP:0000692	Tooth malposition	165	AEBP1	ORPHA:536532
HP:0000692	Tooth malposition	760	CA2	ORPHA:2785
HP:0000692	Tooth malposition	81794	ADAMTS10	OMIM:277600
HP:0000692	Tooth malposition	6885	MAP3K7	ORPHA:3238
HP:0000692	Tooth malposition	51412	ACTL6B	OMIM:618470
HP:0000692	Tooth malposition	4810	NHS	OMIM:302350
HP:0000692	Tooth malposition	8242	KDM5C	OMIM:300534
HP:0000692	Tooth malposition	5566	PRKACA	OMIM:619142
HP:0000692	Tooth malposition	89910	UBE3B	OMIM:244450
HP:0000692	Tooth malposition	55690	PACS1	ORPHA:329224
HP:0000692	Tooth malposition	55690	PACS1	OMIM:615009
HP:0000692	Tooth malposition	55081	IFT57	OMIM:617927
HP:0000692	Tooth malposition	3778	KCNMA1	OMIM:618729
HP:0000692	Tooth malposition	23137	SMC5	OMIM:620185
HP:0000692	Tooth malposition	257	ALX3	OMIM:136760
HP:0000692	Tooth malposition	6045	RNF2	OMIM:619460
HP:0000692	Tooth malposition	57459	GATAD2B	ORPHA:363686
HP:0000692	Tooth malposition	29123	ANKRD11	OMIM:148050
HP:0000692	Tooth malposition	29123	ANKRD11	ORPHA:2332
HP:0000692	Tooth malposition	546	ATRX	OMIM:309580
HP:0000692	Tooth malposition	546	ATRX	OMIM:301040
HP:0000692	Tooth malposition	10274	STAG1	ORPHA:502434
HP:0000692	Tooth malposition	1788	DNMT3A	ORPHA:404443
HP:0000692	Tooth malposition	158326	FREM1	OMIM:608980
HP:0000692	Tooth malposition	3265	HRAS	ORPHA:79414
HP:0000692	Tooth malposition	10844	TUBGCP2	OMIM:618737
HP:0000692	Tooth malposition	3149	HMGB3	OMIM:300915
HP:0000692	Tooth malposition	2072	ERCC4	ORPHA:90321
HP:0000692	Tooth malposition	2067	ERCC1	ORPHA:90322
HP:0000692	Tooth malposition	7737	RNF113A	OMIM:300953
HP:0000692	Tooth malposition	23102	TBC1D2B	ORPHA:397973
HP:0000692	Tooth malposition	265	AMELX	OMIM:301200
HP:0000692	Tooth malposition	3694	ITGB6	OMIM:616221
HP:0000692	Tooth malposition	84957	RELT	OMIM:618386
HP:0000692	Tooth malposition	650	BMP2	OMIM:617877
HP:0000692	Tooth malposition	1834	DSPP	OMIM:125500
HP:0000692	Tooth malposition	8111	GPR68	OMIM:617217
HP:0000692	Tooth malposition	10117	ENAM	OMIM:204650
HP:0000692	Tooth malposition	286077	FAM83H	OMIM:130900
HP:0000692	Tooth malposition	9622	KLK4	OMIM:204700
HP:0000692	Tooth malposition	526	ATP6V1B2	ORPHA:3473
HP:0000692	Tooth malposition	3756	KCNH1	ORPHA:3473
HP:0000692	Tooth malposition	3782	KCNN3	ORPHA:3473
HP:0000692	Tooth malposition	2773	GNAI3	OMIM:602483
HP:0000692	Tooth malposition	9313	MMP20	OMIM:612529
HP:0000692	Tooth malposition	7291	TWIST1	ORPHA:794
HP:0000692	Tooth malposition	2263	FGFR2	ORPHA:794
HP:0000692	Tooth malposition	2263	FGFR2	ORPHA:168624
HP:0000692	Tooth malposition	2261	FGFR3	ORPHA:794
HP:0000692	Tooth malposition	3187	HNRNPH1	OMIM:620083
HP:0000692	Tooth malposition	5573	PRKAR1A	ORPHA:950
HP:0000692	Tooth malposition	5144	PDE4D	ORPHA:950
HP:0000692	Tooth malposition	153642	ARSK	OMIM:619698
HP:0000692	Tooth malposition	64840	PORCN	ORPHA:2092
HP:0000692	Tooth malposition	55084	SOBP	OMIM:613671
HP:0000692	Tooth malposition	1857	DVL3	ORPHA:3107
HP:0000692	Tooth malposition	7474	WNT5A	ORPHA:3107
HP:0000692	Tooth malposition	1855	DVL1	ORPHA:3107
HP:0000692	Tooth malposition	2535	FZD2	ORPHA:3107
HP:0000692	Tooth malposition	673	BRAF	OMIM:115150
HP:0000692	Tooth malposition	6804	STX1A	ORPHA:904
HP:0000692	Tooth malposition	7461	CLIP2	ORPHA:904
HP:0000692	Tooth malposition	84277	DNAJC30	ORPHA:904
HP:0000692	Tooth malposition	8468	FKBP6	ORPHA:904
HP:0000692	Tooth malposition	5982	RFC2	ORPHA:904
HP:0000692	Tooth malposition	2969	GTF2I	ORPHA:904
HP:0000692	Tooth malposition	3984	LIMK1	ORPHA:904
HP:0000692	Tooth malposition	9569	GTF2IRD1	ORPHA:904
HP:0000692	Tooth malposition	155382	VPS37D	ORPHA:904
HP:0000692	Tooth malposition	155368	METTL27	ORPHA:904
HP:0000692	Tooth malposition	114049	BUD23	ORPHA:904
HP:0000692	Tooth malposition	7458	EIF4H	ORPHA:904
HP:0000692	Tooth malposition	84163	GTF2IRD2	ORPHA:904
HP:0000692	Tooth malposition	9275	BCL7B	ORPHA:904
HP:0000692	Tooth malposition	26608	TBL2	ORPHA:904
HP:0000692	Tooth malposition	653361	NCF1	ORPHA:904
HP:0000692	Tooth malposition	135886	TMEM270	ORPHA:904
HP:0000692	Tooth malposition	51085	MLXIPL	ORPHA:904
HP:0000692	Tooth malposition	9031	BAZ1B	ORPHA:904
HP:0000692	Tooth malposition	2006	ELN	ORPHA:904
HP:0000692	Tooth malposition	64359	NXN	ORPHA:1507
HP:0000692	Tooth malposition	4920	ROR2	ORPHA:1507
HP:0000692	Tooth malposition	8481	OFD1	ORPHA:2750
HP:0000692	Tooth malposition	3190	HNRNPK	ORPHA:352665
HP:0000692	Tooth malposition	3190	HNRNPK	ORPHA:453504
HP:0000692	Tooth malposition	84172	POLR1B	ORPHA:861
HP:0000692	Tooth malposition	9533	POLR1C	ORPHA:861
HP:0000692	Tooth malposition	51082	POLR1D	ORPHA:861
HP:0000692	Tooth malposition	6949	TCOF1	ORPHA:861
HP:0000692	Tooth malposition	860	RUNX2	ORPHA:1452
HP:0000692	Tooth malposition	5728	PTEN	ORPHA:2969
HP:0000692	Tooth malposition	8450	CUL4B	ORPHA:85293
HP:0000692	Tooth malposition	4853	NOTCH2	ORPHA:955
HP:0000692	Tooth malposition	4952	OCRL	ORPHA:534
HP:0000692	Tooth malposition	10743	RAI1	ORPHA:1713
HP:0000692	Tooth malposition	222663	SCUBE3	OMIM:619184
HP:0000692	Tooth malposition	2887	GRB10	ORPHA:96182
HP:0000692	Tooth malposition	23111	SPART	ORPHA:101000
HP:0000692	Tooth malposition	93650	ACP4	OMIM:617297
HP:0000692	Tooth malposition	101929726	MYMX	OMIM:619941
HP:0000692	Tooth malposition	2138	EYA1	OMIM:113650
HP:0000692	Tooth malposition	6495	SIX1	OMIM:113650
HP:0000692	Tooth malposition	2033	EP300	OMIM:613684
HP:0000692	Tooth malposition	57479	PRR12	OMIM:619539
HP:0000692	Tooth malposition	3097	HIVEP2	OMIM:616977
HP:0000692	Tooth malposition	91801	ALKBH8	OMIM:618504
HP:0000692	Tooth malposition	54517	PUS7	OMIM:618342
HP:0000692	Tooth malposition	85440	DOCK7	ORPHA:411986
HP:0000692	Tooth malposition	9509	ADAMTS2	OMIM:225410
HP:0006304	Widely-spaced incisors	257	ALX3	OMIM:136760
HP:0006304	Widely-spaced incisors	6045	RNF2	OMIM:619460
HP:0006304	Widely-spaced incisors	57459	GATAD2B	ORPHA:363686
HP:0006304	Widely-spaced incisors	29123	ANKRD11	OMIM:148050
HP:0006304	Widely-spaced incisors	29123	ANKRD11	ORPHA:2332
HP:0006304	Widely-spaced incisors	22856	CHSY1	ORPHA:363417
HP:0006304	Widely-spaced incisors	546	ATRX	OMIM:309580
HP:0006304	Widely-spaced incisors	546	ATRX	OMIM:301040
HP:0006304	Widely-spaced incisors	10274	STAG1	ORPHA:502434
HP:0006304	Widely-spaced incisors	1788	DNMT3A	ORPHA:404443
HP:0006304	Widely-spaced incisors	158326	FREM1	OMIM:608980
HP:0006304	Widely-spaced incisors	10060	ABCC9	OMIM:619719
HP:0006304	Widely-spaced incisors	3265	HRAS	ORPHA:79414
HP:0006304	Widely-spaced incisors	10844	TUBGCP2	OMIM:618737
HP:0006304	Widely-spaced incisors	3149	HMGB3	OMIM:300915
HP:0006308	Atrophy of alveolar ridges	1130	LYST	ORPHA:167
HP:0006308	Atrophy of alveolar ridges	716	C1S	ORPHA:75392
HP:0006308	Atrophy of alveolar ridges	715	C1R	ORPHA:75392
HP:0006308	Atrophy of alveolar ridges	1991	ELANE	ORPHA:2686
HP:0006308	Atrophy of alveolar ridges	1075	CTSC	OMIM:245000
HP:0006308	Atrophy of alveolar ridges	1075	CTSC	ORPHA:678
HP:0006352	Failure of eruption of permanent teeth	23347	SMCHD1	ORPHA:2250
HP:0006352	Failure of eruption of permanent teeth	5745	PTH1R	OMIM:125350
HP:0006352	Failure of eruption of permanent teeth	2317	FLNB	OMIM:272460
HP:0006352	Failure of eruption of permanent teeth	6925	TCF4	ORPHA:2896
HP:0006352	Failure of eruption of permanent teeth	6885	MAP3K7	ORPHA:3238
HP:0006311	Generalized microdontia	3914	LAMB3	OMIM:104530
HP:0006329	Alveolar process hypoplasia	374654	KIF7	OMIM:200990
HP:0006313	Widely spaced primary teeth	80326	WNT10A	OMIM:257980
HP:0006313	Widely spaced primary teeth	1161	ERCC8	ORPHA:90321
HP:0006313	Widely spaced primary teeth	1161	ERCC8	ORPHA:90322
HP:0006313	Widely spaced primary teeth	2072	ERCC4	ORPHA:90321
HP:0006313	Widely spaced primary teeth	2074	ERCC6	ORPHA:90321
HP:0006313	Widely spaced primary teeth	2074	ERCC6	ORPHA:90322
HP:0006313	Widely spaced primary teeth	2067	ERCC1	ORPHA:90322
HP:0006313	Widely spaced primary teeth	7737	RNF113A	OMIM:300953
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	OMIM:157170
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6469	SHH	OMIM:147250
HP:0006315	Solitary median maxillary central incisor	6469	SHH	OMIM:142945
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	51684	SUFU	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	OMIM:610829
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	OMIM:610828
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	23019	CNOT1	ORPHA:556955
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	OMIM:301043
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	8243	SMC1A	OMIM:301044
HP:0006315	Solitary median maxillary central incisor	8243	SMC1A	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	54880	BCOR	ORPHA:2712
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6491	STIL	OMIM:612703
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2121	EVC	OMIM:193530
HP:0006315	Solitary median maxillary central incisor	2121	EVC	ORPHA:952
HP:0006315	Solitary median maxillary central incisor	132884	EVC2	OMIM:193530
HP:0006315	Solitary median maxillary central incisor	132884	EVC2	ORPHA:952
HP:0006315	Solitary median maxillary central incisor	4087	SMAD2	OMIM:619657
HP:0006315	Solitary median maxillary central incisor	4281	MID1	OMIM:300000
HP:0006315	Solitary median maxillary central incisor	29123	ANKRD11	ORPHA:261250
HP:0006315	Solitary median maxillary central incisor	23007	PLCH1	ORPHA:93925
HP:0006316	Irregularly spaced teeth	1289	COL5A1	OMIM:130000
HP:0006334	Hypoplasia of the primary teeth	7703	PCGF2	OMIM:618371
HP:0006334	Hypoplasia of the primary teeth	197131	UBR1	OMIM:243800
HP:0006334	Hypoplasia of the primary teeth	2697	GJA1	OMIM:257850
HP:0006334	Hypoplasia of the primary teeth	1161	ERCC8	ORPHA:90321
HP:0006334	Hypoplasia of the primary teeth	1161	ERCC8	ORPHA:90322
HP:0006334	Hypoplasia of the primary teeth	2072	ERCC4	ORPHA:90321
HP:0006334	Hypoplasia of the primary teeth	2074	ERCC6	ORPHA:90321
HP:0006334	Hypoplasia of the primary teeth	2074	ERCC6	ORPHA:90322
HP:0006334	Hypoplasia of the primary teeth	2067	ERCC1	ORPHA:90322
HP:0006323	Premature loss of primary teeth	9896	FIG4	OMIM:216340
HP:0006323	Premature loss of primary teeth	9896	FIG4	ORPHA:3472
HP:0006323	Premature loss of primary teeth	7421	VDR	ORPHA:93160
HP:0006323	Premature loss of primary teeth	1281	COL3A1	ORPHA:286
HP:0006323	Premature loss of primary teeth	716	C1S	ORPHA:75392
HP:0006323	Premature loss of primary teeth	715	C1R	ORPHA:75392
HP:0006323	Premature loss of primary teeth	55697	VAC14	ORPHA:3472
HP:0006323	Premature loss of primary teeth	80326	WNT10A	ORPHA:50944
HP:0006323	Premature loss of primary teeth	80326	WNT10A	ORPHA:248
HP:0006323	Premature loss of primary teeth	55612	FERMT1	ORPHA:2908
HP:0006323	Premature loss of primary teeth	249	ALPL	OMIM:241510
HP:0006323	Premature loss of primary teeth	249	ALPL	OMIM:146300
HP:0006323	Premature loss of primary teeth	5587	PRKD1	OMIM:617364
HP:0006323	Premature loss of primary teeth	128178	EDARADD	ORPHA:248
HP:0006323	Premature loss of primary teeth	128178	EDARADD	ORPHA:1810
HP:0006323	Premature loss of primary teeth	10913	EDAR	ORPHA:248
HP:0006323	Premature loss of primary teeth	10913	EDAR	ORPHA:1810
HP:0006323	Premature loss of primary teeth	1476	CSTB	ORPHA:248
HP:0006323	Premature loss of primary teeth	7189	TRAF6	ORPHA:1810
HP:0006323	Premature loss of primary teeth	126695	KDF1	ORPHA:1810
HP:0006323	Premature loss of primary teeth	2697	GJA1	ORPHA:2710
HP:0006323	Premature loss of primary teeth	10312	TCIRG1	ORPHA:667
HP:0006323	Premature loss of primary teeth	1186	CLCN7	ORPHA:667
HP:0006323	Premature loss of primary teeth	29887	SNX10	ORPHA:667
HP:0006323	Premature loss of primary teeth	8600	TNFSF11	ORPHA:667
HP:0006323	Premature loss of primary teeth	1075	CTSC	ORPHA:678
HP:0000682	Abnormal dental enamel morphology	7399	USH2A	ORPHA:231178
HP:0000682	Abnormal dental enamel morphology	79955	PDZD7	ORPHA:231178
HP:0000682	Abnormal dental enamel morphology	4647	MYO7A	ORPHA:231178
HP:0000682	Abnormal dental enamel morphology	4647	MYO7A	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	25861	WHRN	ORPHA:231178
HP:0000682	Abnormal dental enamel morphology	84059	ADGRV1	ORPHA:231178
HP:0000682	Abnormal dental enamel morphology	9871	SEC24D	ORPHA:2050
HP:0000682	Abnormal dental enamel morphology	5034	P4HB	ORPHA:2050
HP:0000682	Abnormal dental enamel morphology	64840	PORCN	ORPHA:2092
HP:0000682	Abnormal dental enamel morphology	9791	PTDSS1	ORPHA:2658
HP:0000682	Abnormal dental enamel morphology	9401	RECQL4	ORPHA:221016
HP:0000682	Abnormal dental enamel morphology	9820	CUL7	ORPHA:2616
HP:0000682	Abnormal dental enamel morphology	23363	OBSL1	ORPHA:2616
HP:0000682	Abnormal dental enamel morphology	83987	CCDC8	ORPHA:2616
HP:0000682	Abnormal dental enamel morphology	6804	STX1A	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	7461	CLIP2	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	84277	DNAJC30	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	8468	FKBP6	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	5982	RFC2	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	2969	GTF2I	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	3984	LIMK1	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	9569	GTF2IRD1	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	155382	VPS37D	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	155368	METTL27	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	114049	BUD23	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	7458	EIF4H	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	84163	GTF2IRD2	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	9275	BCL7B	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	26608	TBL2	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	653361	NCF1	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	135886	TMEM270	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	51085	MLXIPL	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	9031	BAZ1B	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	2006	ELN	ORPHA:904
HP:0000682	Abnormal dental enamel morphology	5189	PEX1	ORPHA:3220
HP:0000682	Abnormal dental enamel morphology	5190	PEX6	ORPHA:3220
HP:0000682	Abnormal dental enamel morphology	5728	PTEN	ORPHA:744
HP:0000682	Abnormal dental enamel morphology	207	AKT1	ORPHA:744
HP:0000682	Abnormal dental enamel morphology	8517	IKBKG	ORPHA:464
HP:0000682	Abnormal dental enamel morphology	84172	POLR1B	ORPHA:861
HP:0000682	Abnormal dental enamel morphology	9533	POLR1C	ORPHA:861
HP:0000682	Abnormal dental enamel morphology	51082	POLR1D	ORPHA:861
HP:0000682	Abnormal dental enamel morphology	6949	TCOF1	ORPHA:861
HP:0000682	Abnormal dental enamel morphology	63916	ELMO2	ORPHA:3019
HP:0000682	Abnormal dental enamel morphology	26504	CNNM4	ORPHA:1873
HP:0000682	Abnormal dental enamel morphology	6905	TBCE	ORPHA:2323
HP:0000682	Abnormal dental enamel morphology	224	ALDH3A2	ORPHA:816
HP:0000682	Abnormal dental enamel morphology	2263	FGFR2	ORPHA:2363
HP:0000682	Abnormal dental enamel morphology	2261	FGFR3	ORPHA:2363
HP:0000682	Abnormal dental enamel morphology	2255	FGF10	ORPHA:2363
HP:0000682	Abnormal dental enamel morphology	1717	DHCR7	ORPHA:818
HP:0000682	Abnormal dental enamel morphology	54757	FAM20A	ORPHA:1031
HP:0000682	Abnormal dental enamel morphology	5818	NECTIN1	ORPHA:3253
HP:0000682	Abnormal dental enamel morphology	9076	CLDN1	ORPHA:59303
HP:0000682	Abnormal dental enamel morphology	57539	WDR35	ORPHA:1515
HP:0000682	Abnormal dental enamel morphology	112752	IFT43	ORPHA:1515
HP:0000682	Abnormal dental enamel morphology	51098	IFT52	ORPHA:1515
HP:0000682	Abnormal dental enamel morphology	55764	IFT122	ORPHA:1515
HP:0000682	Abnormal dental enamel morphology	57728	WDR19	ORPHA:1515
HP:0000682	Abnormal dental enamel morphology	4952	OCRL	ORPHA:534
HP:0000682	Abnormal dental enamel morphology	4038	LRP4	ORPHA:3258
HP:0000682	Abnormal dental enamel morphology	324	APC	ORPHA:3258
HP:0000682	Abnormal dental enamel morphology	5339	PLEC	ORPHA:257
HP:0000682	Abnormal dental enamel morphology	5295	PIK3R1	ORPHA:3163
HP:0000682	Abnormal dental enamel morphology	51360	MBTPS2	ORPHA:2273
HP:0000682	Abnormal dental enamel morphology	55612	FERMT1	ORPHA:2908
HP:0000682	Abnormal dental enamel morphology	4763	NF1	ORPHA:139474
HP:0000682	Abnormal dental enamel morphology	10312	TCIRG1	ORPHA:1782
HP:0000682	Abnormal dental enamel morphology	55315	SLC29A3	ORPHA:1782
HP:0000682	Abnormal dental enamel morphology	8792	TNFRSF11A	ORPHA:1782
HP:0000682	Abnormal dental enamel morphology	545	ATR	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	1062	CENPE	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	5116	PCNT	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	5932	RBBP8	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	79902	NUP85	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	84126	ATRIP	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	55835	CENPJ	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	10293	TRAIP	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	22995	CEP152	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	10733	PLK4	ORPHA:808
HP:0000682	Abnormal dental enamel morphology	2248	FGF3	ORPHA:2791
HP:0000682	Abnormal dental enamel morphology	284111	SLC13A5	ORPHA:1946
HP:0000682	Abnormal dental enamel morphology	79641	ROGDI	ORPHA:1946
HP:0000682	Abnormal dental enamel morphology	8481	OFD1	ORPHA:2750
HP:0000682	Abnormal dental enamel morphology	1312	COMT	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	221037	JMJD1C	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	2812	GP1BB	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	6239	RREB1	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	6899	TBX1	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	7290	HIRA	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	9632	SEC24C	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	7353	UFD1	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	421	ARVCF	ORPHA:567
HP:0000682	Abnormal dental enamel morphology	2697	GJA1	ORPHA:2710
HP:0000682	Abnormal dental enamel morphology	54539	NDUFB11	ORPHA:2556
HP:0000682	Abnormal dental enamel morphology	1349	COX7B	ORPHA:2556
HP:0000682	Abnormal dental enamel morphology	3052	HCCS	ORPHA:2556
HP:0000682	Abnormal dental enamel morphology	3265	HRAS	ORPHA:3071
HP:0000682	Abnormal dental enamel morphology	64072	CDH23	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	10083	USH1C	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	124590	USH1G	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	83715	ESPN	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	10518	CIB2	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	65217	PCDH15	ORPHA:231169
HP:0000682	Abnormal dental enamel morphology	8626	TP63	ORPHA:1896
HP:0000682	Abnormal dental enamel morphology	5144	PDE4D	ORPHA:439822
HP:0000682	Abnormal dental enamel morphology	84818	IL17RC	ORPHA:1334
HP:0000682	Abnormal dental enamel morphology	64581	CLEC7A	ORPHA:1334
HP:0000682	Abnormal dental enamel morphology	23765	IL17RA	ORPHA:1334
HP:0000682	Abnormal dental enamel morphology	10758	TRAF3IP2	ORPHA:1334
HP:0000682	Abnormal dental enamel morphology	112744	IL17F	ORPHA:1334
HP:0000682	Abnormal dental enamel morphology	860	RUNX2	ORPHA:1452
HP:0000682	Abnormal dental enamel morphology	9361	LONP1	ORPHA:1458
HP:0000682	Abnormal dental enamel morphology	64682	ANAPC1	ORPHA:221008
HP:0000682	Abnormal dental enamel morphology	2720	GLB1	OMIM:253010
HP:0000682	Abnormal dental enamel morphology	2588	GALNS	OMIM:253000
HP:0000682	Abnormal dental enamel morphology	265	AMELX	OMIM:301200
HP:0000682	Abnormal dental enamel morphology	93650	ACP4	OMIM:617297
HP:0000682	Abnormal dental enamel morphology	134218	DNAJC21	OMIM:617052
HP:0000682	Abnormal dental enamel morphology	3694	ITGB6	OMIM:616221
HP:0000682	Abnormal dental enamel morphology	84068	SLC10A7	OMIM:618363
HP:0000682	Abnormal dental enamel morphology	6603	SMARCD2	OMIM:617475
HP:0000682	Abnormal dental enamel morphology	84876	ORAI1	OMIM:612782
HP:0000682	Abnormal dental enamel morphology	8111	GPR68	OMIM:617217
HP:0000682	Abnormal dental enamel morphology	10117	ENAM	OMIM:204650
HP:0000682	Abnormal dental enamel morphology	10117	ENAM	OMIM:104500
HP:0000682	Abnormal dental enamel morphology	6786	STIM1	OMIM:612783
HP:0000682	Abnormal dental enamel morphology	286077	FAM83H	OMIM:130900
HP:0000682	Abnormal dental enamel morphology	80320	SP6	OMIM:620104
HP:0000682	Abnormal dental enamel morphology	55858	TMEM165	OMIM:614727
HP:0000682	Abnormal dental enamel morphology	258	AMBN	OMIM:616270
HP:0000682	Abnormal dental enamel morphology	4054	LTBP3	OMIM:601216
HP:0000682	Abnormal dental enamel morphology	3909	LAMA3	OMIM:245660
HP:0000682	Abnormal dental enamel morphology	149461	CLDN19	OMIM:248190
HP:0000682	Abnormal dental enamel morphology	123041	SLC24A4	OMIM:615887
HP:0000682	Abnormal dental enamel morphology	6304	SATB1	OMIM:619229
HP:0000682	Abnormal dental enamel morphology	152816	ODAPH	OMIM:614832
HP:0000682	Abnormal dental enamel morphology	9622	KLK4	OMIM:204700
HP:0000682	Abnormal dental enamel morphology	3914	LAMB3	OMIM:104530
HP:0000682	Abnormal dental enamel morphology	1747	DLX3	OMIM:104510
HP:0000682	Abnormal dental enamel morphology	401138	AMTN	OMIM:617607
HP:0000682	Abnormal dental enamel morphology	5251	PHEX	OMIM:307800
HP:0000682	Abnormal dental enamel morphology	3691	ITGB4	OMIM:226730
HP:0000682	Abnormal dental enamel morphology	3691	ITGB4	ORPHA:79403
HP:0000682	Abnormal dental enamel morphology	3691	ITGB4	ORPHA:79402
HP:0000682	Abnormal dental enamel morphology	3691	ITGB4	ORPHA:251393
HP:0000682	Abnormal dental enamel morphology	1161	ERCC8	ORPHA:90324
HP:0000682	Abnormal dental enamel morphology	1161	ERCC8	ORPHA:90321
HP:0000682	Abnormal dental enamel morphology	1161	ERCC8	ORPHA:90322
HP:0000682	Abnormal dental enamel morphology	1161	ERCC8	OMIM:216400
HP:0000682	Abnormal dental enamel morphology	2074	ERCC6	ORPHA:90324
HP:0000682	Abnormal dental enamel morphology	2074	ERCC6	ORPHA:90321
HP:0000682	Abnormal dental enamel morphology	2074	ERCC6	ORPHA:90322
HP:0000682	Abnormal dental enamel morphology	81607	NECTIN4	OMIM:613573
HP:0000682	Abnormal dental enamel morphology	4010	LMX1B	ORPHA:2614
HP:0000682	Abnormal dental enamel morphology	55746	NUP133	OMIM:618349
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	ORPHA:94089
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	OMIM:612463
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	OMIM:612462
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	ORPHA:79443
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	ORPHA:79444
HP:0000682	Abnormal dental enamel morphology	2778	GNAS	OMIM:103580
HP:0000682	Abnormal dental enamel morphology	8675	STX16	ORPHA:94089
HP:0000682	Abnormal dental enamel morphology	2072	ERCC4	ORPHA:90321
HP:0000682	Abnormal dental enamel morphology	2072	ERCC4	OMIM:610965
HP:0000682	Abnormal dental enamel morphology	2067	ERCC1	ORPHA:90322
HP:0000682	Abnormal dental enamel morphology	64094	SMOC2	OMIM:125400
HP:0000682	Abnormal dental enamel morphology	3655	ITGA6	ORPHA:79403
HP:0000682	Abnormal dental enamel morphology	3918	LAMC2	ORPHA:79404
HP:0000682	Abnormal dental enamel morphology	3918	LAMC2	ORPHA:79402
HP:0000682	Abnormal dental enamel morphology	3918	LAMC2	OMIM:226700
HP:0000682	Abnormal dental enamel morphology	1308	COL17A1	ORPHA:79406
HP:0000682	Abnormal dental enamel morphology	1308	COL17A1	ORPHA:79402
HP:0000682	Abnormal dental enamel morphology	1308	COL17A1	ORPHA:251393
HP:0000682	Abnormal dental enamel morphology	4312	MMP1	ORPHA:79408
HP:0000682	Abnormal dental enamel morphology	4312	MMP1	OMIM:226600
HP:0000682	Abnormal dental enamel morphology	1294	COL7A1	ORPHA:79408
HP:0000682	Abnormal dental enamel morphology	1294	COL7A1	ORPHA:79409
HP:0000682	Abnormal dental enamel morphology	1294	COL7A1	OMIM:226600
HP:0000682	Abnormal dental enamel morphology	1294	COL7A1	ORPHA:79410
HP:0000682	Abnormal dental enamel morphology	1294	COL7A1	ORPHA:79411
HP:0000682	Abnormal dental enamel morphology	57511	COG6	ORPHA:363523
HP:0000682	Abnormal dental enamel morphology	57511	COG6	OMIM:614576
HP:0000682	Abnormal dental enamel morphology	57511	COG6	OMIM:615328
HP:0000682	Abnormal dental enamel morphology	80055	PGAP1	OMIM:615802
HP:0000682	Abnormal dental enamel morphology	56975	FAM20C	OMIM:259775
HP:0000682	Abnormal dental enamel morphology	6595	SMARCA2	OMIM:619293
HP:0000682	Abnormal dental enamel morphology	10265	IRX5	OMIM:611174
HP:0000682	Abnormal dental enamel morphology	3117	HLA-DQA1	OMIM:212750
HP:0000682	Abnormal dental enamel morphology	3119	HLA-DQB1	OMIM:212750
HP:0000682	Abnormal dental enamel morphology	3759	KCNJ2	OMIM:170390
HP:0000682	Abnormal dental enamel morphology	222663	SCUBE3	OMIM:619184
HP:0000682	Abnormal dental enamel morphology	1594	CYP27B1	OMIM:264700
HP:0000682	Abnormal dental enamel morphology	1594	CYP27B1	ORPHA:289157
HP:0000682	Abnormal dental enamel morphology	7421	VDR	OMIM:277440
HP:0000682	Abnormal dental enamel morphology	4591	TRIM37	OMIM:253250
HP:0000682	Abnormal dental enamel morphology	2783	GNB2	OMIM:619503
HP:0000682	Abnormal dental enamel morphology	57217	TTC7A	OMIM:243150
HP:0000682	Abnormal dental enamel morphology	120227	CYP2R1	ORPHA:289157
HP:0000682	Abnormal dental enamel morphology	1387	CREBBP	OMIM:180849
HP:0000682	Abnormal dental enamel morphology	2033	EP300	OMIM:180849
HP:0000682	Abnormal dental enamel morphology	83479	DDX59	ORPHA:2919
HP:0000682	Abnormal dental enamel morphology	7355	SLC35A2	OMIM:300896
HP:0000682	Abnormal dental enamel morphology	326	AIRE	OMIM:240300
HP:0000682	Abnormal dental enamel morphology	79977	GRHL2	OMIM:616029
HP:0000682	Abnormal dental enamel morphology	387	RHOA	OMIM:618727
HP:0000682	Abnormal dental enamel morphology	2591	GALNT3	OMIM:211900
HP:0000682	Abnormal dental enamel morphology	23219	FBXO28	OMIM:619777
HP:0000682	Abnormal dental enamel morphology	1107	CHD3	OMIM:618205
HP:0000682	Abnormal dental enamel morphology	404672	GTF2H5	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	833	CARS1	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	2068	ERCC2	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	7737	RNF113A	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	136647	MPLKIP	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	6897	TARS1	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	2071	ERCC3	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	2961	GTF2E2	ORPHA:33364
HP:0000682	Abnormal dental enamel morphology	2317	FLNB	OMIM:272460
HP:0000682	Abnormal dental enamel morphology	1487	CTBP1	OMIM:617915
HP:0000682	Abnormal dental enamel morphology	2260	FGFR1	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	4487	MSX1	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	128178	EDARADD	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	5083	PAX9	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	7341	SUMO1	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	80326	WNT10A	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	1896	EDA	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	8313	AXIN2	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	3664	IRF6	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	4040	LRP6	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	7039	TGFA	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	7480	WNT10B	ORPHA:99798
HP:0000682	Abnormal dental enamel morphology	5286	PIK3C2A	ORPHA:557003
HP:0000682	Abnormal dental enamel morphology	1513	CTSK	ORPHA:763
HP:0000682	Abnormal dental enamel morphology	3861	KRT14	ORPHA:69087
HP:0000682	Abnormal dental enamel morphology	3861	KRT14	ORPHA:79396
HP:0000682	Abnormal dental enamel morphology	5062	PAK2	OMIM:618458
HP:0000682	Abnormal dental enamel morphology	3852	KRT5	ORPHA:79396
HP:0000682	Abnormal dental enamel morphology	1834	DSPP	OMIM:125500
HP:0000682	Abnormal dental enamel morphology	7248	TSC1	OMIM:191100
HP:0000682	Abnormal dental enamel morphology	84957	RELT	OMIM:618386
HP:0000682	Abnormal dental enamel morphology	256764	WDR72	OMIM:613211
HP:0000682	Abnormal dental enamel morphology	5885	RAD21	OMIM:614701
HP:0000682	Abnormal dental enamel morphology	9313	MMP20	OMIM:612529
HP:0006332	Supernumerary maxillary incisor	4487	MSX1	ORPHA:199302
HP:0006332	Supernumerary maxillary incisor	5818	NECTIN1	ORPHA:199302
HP:0006332	Supernumerary maxillary incisor	8626	TP63	ORPHA:199302
HP:0006332	Supernumerary maxillary incisor	3664	IRF6	ORPHA:199302
HP:0006332	Supernumerary maxillary incisor	4810	NHS	OMIM:302350
HP:0006333	Crowded maxillary incisors	23102	TBC1D2B	ORPHA:397973
HP:0006336	Short dental root	64135	IFIH1	OMIM:182250
HP:0006336	Short dental root	4796	TONSL	ORPHA:93357
HP:0006336	Short dental root	4796	TONSL	OMIM:271510
HP:0006336	Short dental root	2260	FGFR1	ORPHA:99798
HP:0006336	Short dental root	4487	MSX1	ORPHA:99798
HP:0006336	Short dental root	128178	EDARADD	ORPHA:99798
HP:0006336	Short dental root	5083	PAX9	ORPHA:99798
HP:0006336	Short dental root	7341	SUMO1	ORPHA:99798
HP:0006336	Short dental root	80326	WNT10A	ORPHA:99798
HP:0006336	Short dental root	1896	EDA	ORPHA:99798
HP:0006336	Short dental root	8313	AXIN2	ORPHA:99798
HP:0006336	Short dental root	3664	IRF6	ORPHA:99798
HP:0006336	Short dental root	4040	LRP6	ORPHA:99798
HP:0006336	Short dental root	7039	TGFA	ORPHA:99798
HP:0006336	Short dental root	7480	WNT10B	ORPHA:99798
HP:0006336	Short dental root	64094	SMOC2	OMIM:125400
HP:0000676	Abnormality of the incisor	2972	BRF1	OMIM:616202
HP:0000676	Abnormality of the incisor	2972	BRF1	ORPHA:444072
HP:0000676	Abnormality of the incisor	1301	COL11A1	OMIM:154780
HP:0000676	Abnormality of the incisor	8911	CACNA1I	OMIM:620114
HP:0000676	Abnormality of the incisor	10664	CTCF	ORPHA:363611
HP:0000676	Abnormality of the incisor	10667	FARS2	ORPHA:466722
HP:0000676	Abnormality of the incisor	3778	KCNMA1	OMIM:618729
HP:0000676	Abnormality of the incisor	2892	GRIA3	ORPHA:364028
HP:0000676	Abnormality of the incisor	526	ATP6V1B2	ORPHA:79500
HP:0000676	Abnormality of the incisor	57465	TBC1D24	ORPHA:79500
HP:0000676	Abnormality of the incisor	2697	GJA1	OMIM:257850
HP:0000676	Abnormality of the incisor	157680	VPS13B	OMIM:216550
HP:0000676	Abnormality of the incisor	23241	PACS2	OMIM:618067
HP:0000676	Abnormality of the incisor	641	BLM	OMIM:210900
HP:0000676	Abnormality of the incisor	2071	ERCC3	OMIM:616390
HP:0000676	Abnormality of the incisor	8260	NAA10	OMIM:309800
HP:0000676	Abnormality of the incisor	4487	MSX1	ORPHA:99798
HP:0000676	Abnormality of the incisor	128178	EDARADD	ORPHA:99798
HP:0000676	Abnormality of the incisor	5083	PAX9	ORPHA:99798
HP:0000676	Abnormality of the incisor	7341	SUMO1	ORPHA:99798
HP:0000676	Abnormality of the incisor	1896	EDA	ORPHA:99798
HP:0000676	Abnormality of the incisor	8313	AXIN2	ORPHA:99798
HP:0000676	Abnormality of the incisor	3664	IRF6	ORPHA:99798
HP:0000676	Abnormality of the incisor	4040	LRP6	ORPHA:99798
HP:0000676	Abnormality of the incisor	7039	TGFA	ORPHA:99798
HP:0000676	Abnormality of the incisor	7480	WNT10B	ORPHA:99798
HP:0000676	Abnormality of the incisor	257	ALX3	OMIM:136760
HP:0000676	Abnormality of the incisor	6045	RNF2	OMIM:619460
HP:0000676	Abnormality of the incisor	57459	GATAD2B	ORPHA:363686
HP:0000676	Abnormality of the incisor	29123	ANKRD11	OMIM:148050
HP:0000676	Abnormality of the incisor	29123	ANKRD11	ORPHA:2332
HP:0000676	Abnormality of the incisor	22856	CHSY1	ORPHA:363417
HP:0000676	Abnormality of the incisor	546	ATRX	OMIM:309580
HP:0000676	Abnormality of the incisor	546	ATRX	OMIM:301040
HP:0000676	Abnormality of the incisor	10274	STAG1	ORPHA:502434
HP:0000676	Abnormality of the incisor	1788	DNMT3A	ORPHA:404443
HP:0000676	Abnormality of the incisor	158326	FREM1	OMIM:608980
HP:0000676	Abnormality of the incisor	10060	ABCC9	OMIM:619719
HP:0000676	Abnormality of the incisor	3265	HRAS	ORPHA:79414
HP:0000676	Abnormality of the incisor	10844	TUBGCP2	OMIM:618737
HP:0000676	Abnormality of the incisor	3149	HMGB3	OMIM:300915
HP:0000676	Abnormality of the incisor	2260	FGFR1	ORPHA:280200
HP:0000676	Abnormality of the incisor	2260	FGFR1	ORPHA:220386
HP:0000676	Abnormality of the incisor	2260	FGFR1	ORPHA:93924
HP:0000676	Abnormality of the incisor	28514	DLL1	ORPHA:280200
HP:0000676	Abnormality of the incisor	28514	DLL1	ORPHA:220386
HP:0000676	Abnormality of the incisor	28514	DLL1	ORPHA:93926
HP:0000676	Abnormality of the incisor	28514	DLL1	ORPHA:93924
HP:0000676	Abnormality of the incisor	28514	DLL1	ORPHA:93925
HP:0000676	Abnormality of the incisor	2253	FGF8	ORPHA:280200
HP:0000676	Abnormality of the incisor	2253	FGF8	ORPHA:220386
HP:0000676	Abnormality of the incisor	2253	FGF8	ORPHA:93926
HP:0000676	Abnormality of the incisor	2253	FGF8	ORPHA:93924
HP:0000676	Abnormality of the incisor	2253	FGF8	ORPHA:93925
HP:0000676	Abnormality of the incisor	6496	SIX3	ORPHA:280200
HP:0000676	Abnormality of the incisor	6496	SIX3	ORPHA:220386
HP:0000676	Abnormality of the incisor	6496	SIX3	OMIM:157170
HP:0000676	Abnormality of the incisor	6496	SIX3	ORPHA:93926
HP:0000676	Abnormality of the incisor	6496	SIX3	ORPHA:93924
HP:0000676	Abnormality of the incisor	6496	SIX3	ORPHA:93925
HP:0000676	Abnormality of the incisor	7050	TGIF1	ORPHA:280200
HP:0000676	Abnormality of the incisor	7050	TGIF1	ORPHA:220386
HP:0000676	Abnormality of the incisor	7050	TGIF1	ORPHA:93926
HP:0000676	Abnormality of the incisor	7050	TGIF1	ORPHA:93924
HP:0000676	Abnormality of the incisor	7050	TGIF1	ORPHA:93925
HP:0000676	Abnormality of the incisor	4838	NODAL	ORPHA:280200
HP:0000676	Abnormality of the incisor	4838	NODAL	ORPHA:220386
HP:0000676	Abnormality of the incisor	4838	NODAL	ORPHA:93926
HP:0000676	Abnormality of the incisor	4838	NODAL	ORPHA:93924
HP:0000676	Abnormality of the incisor	4838	NODAL	ORPHA:93925
HP:0000676	Abnormality of the incisor	6469	SHH	ORPHA:280200
HP:0000676	Abnormality of the incisor	6469	SHH	ORPHA:220386
HP:0000676	Abnormality of the incisor	6469	SHH	OMIM:147250
HP:0000676	Abnormality of the incisor	6469	SHH	OMIM:142945
HP:0000676	Abnormality of the incisor	6469	SHH	ORPHA:93926
HP:0000676	Abnormality of the incisor	6469	SHH	ORPHA:93924
HP:0000676	Abnormality of the incisor	6469	SHH	ORPHA:93925
HP:0000676	Abnormality of the incisor	51684	SUFU	ORPHA:280200
HP:0000676	Abnormality of the incisor	7546	ZIC2	ORPHA:280200
HP:0000676	Abnormality of the incisor	7546	ZIC2	ORPHA:220386
HP:0000676	Abnormality of the incisor	7546	ZIC2	ORPHA:93926
HP:0000676	Abnormality of the incisor	7546	ZIC2	ORPHA:93924
HP:0000676	Abnormality of the incisor	7546	ZIC2	ORPHA:93925
HP:0000676	Abnormality of the incisor	2619	GAS1	ORPHA:280200
HP:0000676	Abnormality of the incisor	2619	GAS1	ORPHA:220386
HP:0000676	Abnormality of the incisor	2619	GAS1	ORPHA:93926
HP:0000676	Abnormality of the incisor	2619	GAS1	ORPHA:93924
HP:0000676	Abnormality of the incisor	2619	GAS1	ORPHA:93925
HP:0000676	Abnormality of the incisor	84976	DISP1	ORPHA:280200
HP:0000676	Abnormality of the incisor	84976	DISP1	ORPHA:220386
HP:0000676	Abnormality of the incisor	84976	DISP1	ORPHA:93926
HP:0000676	Abnormality of the incisor	84976	DISP1	ORPHA:93924
HP:0000676	Abnormality of the incisor	84976	DISP1	ORPHA:93925
HP:0000676	Abnormality of the incisor	2736	GLI2	ORPHA:280200
HP:0000676	Abnormality of the incisor	2736	GLI2	ORPHA:220386
HP:0000676	Abnormality of the incisor	2736	GLI2	OMIM:610829
HP:0000676	Abnormality of the incisor	2736	GLI2	ORPHA:93926
HP:0000676	Abnormality of the incisor	2736	GLI2	ORPHA:93924
HP:0000676	Abnormality of the incisor	2736	GLI2	ORPHA:93925
HP:0000676	Abnormality of the incisor	8928	FOXH1	ORPHA:280200
HP:0000676	Abnormality of the incisor	8928	FOXH1	ORPHA:220386
HP:0000676	Abnormality of the incisor	8928	FOXH1	ORPHA:93926
HP:0000676	Abnormality of the incisor	8928	FOXH1	ORPHA:93924
HP:0000676	Abnormality of the incisor	8928	FOXH1	ORPHA:93925
HP:0000676	Abnormality of the incisor	5727	PTCH1	ORPHA:280200
HP:0000676	Abnormality of the incisor	5727	PTCH1	ORPHA:220386
HP:0000676	Abnormality of the incisor	5727	PTCH1	OMIM:610828
HP:0000676	Abnormality of the incisor	5727	PTCH1	ORPHA:93926
HP:0000676	Abnormality of the incisor	5727	PTCH1	ORPHA:93924
HP:0000676	Abnormality of the incisor	5727	PTCH1	ORPHA:93925
HP:0000676	Abnormality of the incisor	50937	CDON	ORPHA:280200
HP:0000676	Abnormality of the incisor	50937	CDON	ORPHA:220386
HP:0000676	Abnormality of the incisor	50937	CDON	ORPHA:93926
HP:0000676	Abnormality of the incisor	50937	CDON	ORPHA:93924
HP:0000676	Abnormality of the incisor	50937	CDON	ORPHA:93925
HP:0000676	Abnormality of the incisor	23019	CNOT1	ORPHA:556955
HP:0000676	Abnormality of the incisor	10735	STAG2	OMIM:301043
HP:0000676	Abnormality of the incisor	10735	STAG2	ORPHA:220386
HP:0000676	Abnormality of the incisor	10735	STAG2	ORPHA:93925
HP:0000676	Abnormality of the incisor	8243	SMC1A	OMIM:301044
HP:0000676	Abnormality of the incisor	8243	SMC1A	ORPHA:220386
HP:0000676	Abnormality of the incisor	54880	BCOR	ORPHA:2712
HP:0000676	Abnormality of the incisor	6491	STIL	ORPHA:220386
HP:0000676	Abnormality of the incisor	6491	STIL	OMIM:612703
HP:0000676	Abnormality of the incisor	6491	STIL	ORPHA:93926
HP:0000676	Abnormality of the incisor	6491	STIL	ORPHA:93924
HP:0000676	Abnormality of the incisor	6491	STIL	ORPHA:93925
HP:0000676	Abnormality of the incisor	4087	SMAD2	OMIM:619657
HP:0000676	Abnormality of the incisor	4281	MID1	OMIM:300000
HP:0000676	Abnormality of the incisor	23007	PLCH1	ORPHA:93925
HP:0000676	Abnormality of the incisor	23102	TBC1D2B	ORPHA:397973
HP:0000676	Abnormality of the incisor	7994	KAT6A	OMIM:616268
HP:0000676	Abnormality of the incisor	4750	NEK1	ORPHA:2751
HP:0000676	Abnormality of the incisor	5818	NECTIN1	ORPHA:199306
HP:0000676	Abnormality of the incisor	1739	DLG1	ORPHA:199306
HP:0000676	Abnormality of the incisor	652	BMP4	ORPHA:199306
HP:0000676	Abnormality of the incisor	8626	TP63	ORPHA:199306
HP:0000676	Abnormality of the incisor	999	CDH1	ORPHA:199306
HP:0000676	Abnormality of the incisor	5156	PDGFRA	ORPHA:199306
HP:0000676	Abnormality of the incisor	9411	ARHGAP29	ORPHA:199306
HP:0000676	Abnormality of the incisor	1748	DLX4	ORPHA:199306
HP:0000676	Abnormality of the incisor	2248	FGF3	OMIM:610706
HP:0000676	Abnormality of the incisor	4810	NHS	OMIM:302350
HP:0000676	Abnormality of the incisor	9775	EIF4A3	OMIM:268305
HP:0000676	Abnormality of the incisor	1747	DLX3	ORPHA:3352
HP:0000676	Abnormality of the incisor	9578	CDC42BPB	OMIM:619841
HP:0000676	Abnormality of the incisor	1009	CDH11	OMIM:211380
HP:0000676	Abnormality of the incisor	222663	SCUBE3	OMIM:619184
HP:0000676	Abnormality of the incisor	5566	PRKACA	ORPHA:289
HP:0000676	Abnormality of the incisor	5567	PRKACB	ORPHA:289
HP:0000676	Abnormality of the incisor	2735	GLI1	ORPHA:289
HP:0000676	Abnormality of the incisor	2121	EVC	ORPHA:289
HP:0000676	Abnormality of the incisor	51626	DYNC2LI1	ORPHA:289
HP:0000676	Abnormality of the incisor	132884	EVC2	ORPHA:289
HP:0000676	Abnormality of the incisor	545	ATR	OMIM:614564
HP:0000676	Abnormality of the incisor	2263	FGFR2	OMIM:149730
HP:0000676	Abnormality of the incisor	80326	WNT10A	OMIM:257980
HP:0000676	Abnormality of the incisor	147372	CCBE1	OMIM:235510
HP:0000676	Abnormality of the incisor	8517	IKBKG	OMIM:300291
HP:0000676	Abnormality of the incisor	145173	B3GLCT	OMIM:261540
HP:0000676	Abnormality of the incisor	51305	KCNK9	ORPHA:166108
HP:0000676	Abnormality of the incisor	5813	PURA	ORPHA:438216
HP:0000676	Abnormality of the incisor	6768	ST14	OMIM:602400
HP:0000676	Abnormality of the incisor	2033	EP300	OMIM:613684
HP:0000676	Abnormality of the incisor	2033	EP300	OMIM:180849
HP:0000676	Abnormality of the incisor	2033	EP300	ORPHA:353284
HP:0000676	Abnormality of the incisor	1387	CREBBP	OMIM:180849
HP:0000676	Abnormality of the incisor	1387	CREBBP	ORPHA:353277
HP:0000676	Abnormality of the incisor	1387	CREBBP	ORPHA:353281
HP:0000676	Abnormality of the incisor	1802	DPH2	OMIM:620062
HP:0000676	Abnormality of the incisor	150468	CKAP2L	OMIM:272440
HP:0000676	Abnormality of the incisor	85440	DOCK7	ORPHA:411986
HP:0000676	Abnormality of the incisor	54101	RIPK4	ORPHA:1401
HP:0006342	Peg-shaped maxillary lateral incisors	7994	KAT6A	OMIM:616268
HP:0006342	Peg-shaped maxillary lateral incisors	4750	NEK1	ORPHA:2751
HP:0006342	Peg-shaped maxillary lateral incisors	4487	MSX1	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	4487	MSX1	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	5818	NECTIN1	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	1739	DLG1	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	652	BMP4	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	8626	TP63	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	999	CDH1	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	5156	PDGFRA	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	3664	IRF6	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	3664	IRF6	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	9411	ARHGAP29	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	1748	DLX4	ORPHA:199306
HP:0006342	Peg-shaped maxillary lateral incisors	2260	FGFR1	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	128178	EDARADD	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	5083	PAX9	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	7341	SUMO1	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	80326	WNT10A	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	80326	WNT10A	OMIM:150400
HP:0006342	Peg-shaped maxillary lateral incisors	1896	EDA	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	8313	AXIN2	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	4040	LRP6	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	7039	TGFA	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	7480	WNT10B	ORPHA:99798
HP:0006342	Peg-shaped maxillary lateral incisors	2248	FGF3	OMIM:610706
HP:0006480	Premature loss of teeth	9896	FIG4	OMIM:216340
HP:0006480	Premature loss of teeth	9896	FIG4	ORPHA:3472
HP:0006480	Premature loss of teeth	7421	VDR	ORPHA:93160
HP:0006480	Premature loss of teeth	716	C1S	ORPHA:75392
HP:0006480	Premature loss of teeth	55697	VAC14	ORPHA:3472
HP:0006480	Premature loss of teeth	80326	WNT10A	ORPHA:50944
HP:0006480	Premature loss of teeth	80326	WNT10A	ORPHA:248
HP:0006480	Premature loss of teeth	55612	FERMT1	ORPHA:2908
HP:0006480	Premature loss of teeth	249	ALPL	OMIM:241510
HP:0006480	Premature loss of teeth	249	ALPL	OMIM:146300
HP:0006480	Premature loss of teeth	5587	PRKD1	OMIM:617364
HP:0006480	Premature loss of teeth	128178	EDARADD	ORPHA:248
HP:0006480	Premature loss of teeth	128178	EDARADD	ORPHA:1810
HP:0006480	Premature loss of teeth	10913	EDAR	ORPHA:248
HP:0006480	Premature loss of teeth	10913	EDAR	ORPHA:1810
HP:0006480	Premature loss of teeth	1476	CSTB	ORPHA:248
HP:0006480	Premature loss of teeth	7189	TRAF6	ORPHA:1810
HP:0006480	Premature loss of teeth	126695	KDF1	ORPHA:1810
HP:0006480	Premature loss of teeth	1186	CLCN7	ORPHA:667
HP:0006480	Premature loss of teeth	29887	SNX10	ORPHA:667
HP:0006480	Premature loss of teeth	8600	TNFSF11	ORPHA:667
HP:0006480	Premature loss of teeth	3691	ITGB4	OMIM:619816
HP:0006480	Premature loss of teeth	847	CAT	ORPHA:926
HP:0006480	Premature loss of teeth	284654	RSPO1	OMIM:610644
HP:0006480	Premature loss of teeth	8626	TP63	OMIM:103285
HP:0006480	Premature loss of teeth	4038	LRP4	OMIM:212780
HP:0006480	Premature loss of teeth	1281	COL3A1	OMIM:130050
HP:0006480	Premature loss of teeth	55131	RBM28	ORPHA:157954
HP:0006480	Premature loss of teeth	10269	ZMPSTE24	OMIM:608612
HP:0006480	Premature loss of teeth	10484	SEC23A	ORPHA:50814
HP:0006480	Premature loss of teeth	51604	PIGT	ORPHA:369837
HP:0006480	Premature loss of teeth	1593	CYP27A1	ORPHA:909
HP:0006480	Premature loss of teeth	1075	CTSC	OMIM:170650
HP:0006480	Premature loss of teeth	1075	CTSC	OMIM:245000
HP:0006480	Premature loss of teeth	4853	NOTCH2	OMIM:102500
HP:0006480	Premature loss of teeth	285590	SH3PXD2B	ORPHA:137834
HP:0006480	Premature loss of teeth	9842	PLEKHM1	OMIM:618107
HP:0006480	Premature loss of teeth	1736	DKC1	OMIM:305000
HP:0006480	Premature loss of teeth	2072	ERCC4	OMIM:610965
HP:0006480	Premature loss of teeth	10312	TCIRG1	ORPHA:486
HP:0006480	Premature loss of teeth	1991	ELANE	ORPHA:486
HP:0006480	Premature loss of teeth	2672	GFI1	ORPHA:486
HP:0006480	Premature loss of teeth	6729	SRP54	ORPHA:486
HP:0006480	Premature loss of teeth	81570	CLPB	ORPHA:486
HP:0006480	Premature loss of teeth	4982	TNFRSF11B	OMIM:239000
HP:0006480	Premature loss of teeth	4914	NTRK1	ORPHA:642
HP:0006480	Premature loss of teeth	3861	KRT14	OMIM:161000
HP:0006480	Premature loss of teeth	3861	KRT14	ORPHA:69087
HP:0006480	Premature loss of teeth	715	C1R	OMIM:130080
HP:0006480	Premature loss of teeth	860	RUNX2	OMIM:156510
HP:0006480	Premature loss of teeth	375056	MIA3	OMIM:619269
HP:0006480	Premature loss of teeth	23328	SASH1	OMIM:618373
HP:0006480	Premature loss of teeth	8792	TNFRSF11A	OMIM:174810
HP:0006480	Premature loss of teeth	8792	TNFRSF11A	OMIM:602080
HP:0006480	Premature loss of teeth	5073	PARN	OMIM:616353
HP:0006480	Premature loss of teeth	1009	CDH11	ORPHA:1299
HP:0006480	Premature loss of teeth	4000	LMNA	OMIM:248370
HP:0006480	Premature loss of teeth	26277	TINF2	OMIM:127550
HP:0006480	Premature loss of teeth	7012	TERC	OMIM:127550
HP:0006480	Premature loss of teeth	7015	TERT	OMIM:127550
HP:0006480	Premature loss of teeth	2697	GJA1	OMIM:164200
HP:0006480	Premature loss of teeth	165	AEBP1	ORPHA:536532
HP:0006480	Premature loss of teeth	11128	POLR3A	ORPHA:3455
HP:0006480	Premature loss of teeth	55343	SLC35C1	ORPHA:99843
HP:0006344	Abnormality of primary molar morphology	50485	SMARCAL1	ORPHA:1830
HP:0006344	Abnormality of primary molar morphology	2260	FGFR1	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	4487	MSX1	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	128178	EDARADD	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	5083	PAX9	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	7341	SUMO1	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	80326	WNT10A	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	1896	EDA	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	8313	AXIN2	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	3664	IRF6	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	4040	LRP6	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	7039	TGFA	ORPHA:99798
HP:0006344	Abnormality of primary molar morphology	7480	WNT10B	ORPHA:99798
HP:0011065	Conical incisor	7994	KAT6A	OMIM:616268
HP:0011065	Conical incisor	4750	NEK1	ORPHA:2751
HP:0011065	Conical incisor	4487	MSX1	ORPHA:199306
HP:0011065	Conical incisor	4487	MSX1	ORPHA:99798
HP:0011065	Conical incisor	5818	NECTIN1	ORPHA:199306
HP:0011065	Conical incisor	1739	DLG1	ORPHA:199306
HP:0011065	Conical incisor	652	BMP4	ORPHA:199306
HP:0011065	Conical incisor	8626	TP63	ORPHA:199306
HP:0011065	Conical incisor	999	CDH1	ORPHA:199306
HP:0011065	Conical incisor	5156	PDGFRA	ORPHA:199306
HP:0011065	Conical incisor	3664	IRF6	ORPHA:199306
HP:0011065	Conical incisor	3664	IRF6	ORPHA:99798
HP:0011065	Conical incisor	9411	ARHGAP29	ORPHA:199306
HP:0011065	Conical incisor	1748	DLX4	ORPHA:199306
HP:0011065	Conical incisor	2260	FGFR1	ORPHA:99798
HP:0011065	Conical incisor	128178	EDARADD	ORPHA:99798
HP:0011065	Conical incisor	5083	PAX9	ORPHA:99798
HP:0011065	Conical incisor	7341	SUMO1	ORPHA:99798
HP:0011065	Conical incisor	1896	EDA	ORPHA:99798
HP:0011065	Conical incisor	8313	AXIN2	ORPHA:99798
HP:0011065	Conical incisor	4040	LRP6	ORPHA:99798
HP:0011065	Conical incisor	7039	TGFA	ORPHA:99798
HP:0011065	Conical incisor	7480	WNT10B	ORPHA:99798
HP:0011065	Conical incisor	2248	FGF3	OMIM:610706
HP:0011065	Conical incisor	5566	PRKACA	ORPHA:289
HP:0011065	Conical incisor	5567	PRKACB	ORPHA:289
HP:0011065	Conical incisor	2735	GLI1	ORPHA:289
HP:0011065	Conical incisor	2121	EVC	ORPHA:289
HP:0011065	Conical incisor	51626	DYNC2LI1	ORPHA:289
HP:0011065	Conical incisor	132884	EVC2	ORPHA:289
HP:0011065	Conical incisor	545	ATR	OMIM:614564
HP:0011065	Conical incisor	2263	FGFR2	OMIM:149730
HP:0011065	Conical incisor	80326	WNT10A	OMIM:257980
HP:0011065	Conical incisor	147372	CCBE1	OMIM:235510
HP:0011065	Conical incisor	8517	IKBKG	OMIM:300291
HP:0011065	Conical incisor	145173	B3GLCT	OMIM:261540
HP:0011065	Conical incisor	6768	ST14	OMIM:602400
HP:0006346	Screwdriver-shaped incisors	4810	NHS	OMIM:302350
HP:0006347	Microdontia of primary teeth	4487	MSX1	OMIM:189500
HP:0006347	Microdontia of primary teeth	6638	SNRPN	ORPHA:177907
HP:0006347	Microdontia of primary teeth	54499	TMCO1	OMIM:213980
HP:0032204	Chronic active Epstein-Barr virus infection	84061	MAGT1	OMIM:300853
HP:0006350	Pulp obliteration	64094	SMOC2	OMIM:125400
HP:0025454	Abnormal CSF metabolite concentration	9131	AIFM1	ORPHA:238329
HP:0025454	Abnormal CSF metabolite concentration	9131	AIFM1	OMIM:300816
HP:0025454	Abnormal CSF metabolite concentration	4702	NDUFA8	OMIM:619272
HP:0025454	Abnormal CSF metabolite concentration	10128	LRPPRC	OMIM:220111
HP:0025454	Abnormal CSF metabolite concentration	10128	LRPPRC	ORPHA:70472
HP:0025454	Abnormal CSF metabolite concentration	4558	MT-TF	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4572	MT-TQ	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4512	MT-CO1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4513	MT-CO2	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4514	MT-CO3	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4578	MT-TW	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4578	MT-TW	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4540	MT-ND5	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4540	MT-ND5	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4541	MT-ND6	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4541	MT-ND6	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4538	MT-ND4	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4538	MT-ND4	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4567	MT-TL1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4567	MT-TL1	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4574	MT-TS1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4574	MT-TS1	OMIM:220110
HP:0025454	Abnormal CSF metabolite concentration	4575	MT-TS2	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4564	MT-TH	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	54539	NDUFB11	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	51103	NDUFAF1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	91942	NDUFAF2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	91942	NDUFAF2	OMIM:618233
HP:0025454	Abnormal CSF metabolite concentration	91942	NDUFAF2	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	51300	TIMMDC1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4716	NDUFB10	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4723	NDUFV1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4723	NDUFV1	OMIM:618225
HP:0025454	Abnormal CSF metabolite concentration	4723	NDUFV1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	55572	FOXRED1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	55572	FOXRED1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	284184	NDUFAF8	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	55863	TMEM126B	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4537	MT-ND3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4537	MT-ND3	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4729	NDUFV2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4729	NDUFV2	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4694	NDUFA1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4724	NDUFS4	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4724	NDUFS4	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4724	NDUFS4	OMIM:252010
HP:0025454	Abnormal CSF metabolite concentration	4726	NDUFS6	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4728	NDUFS8	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4728	NDUFS8	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4722	NDUFS3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4722	NDUFS3	OMIM:618230
HP:0025454	Abnormal CSF metabolite concentration	4722	NDUFS3	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	79133	NDUFAF5	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	79133	NDUFAF5	OMIM:618238
HP:0025454	Abnormal CSF metabolite concentration	79133	NDUFAF5	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	126328	NDUFA11	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4709	NDUFB3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	80224	NUBPL	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	80224	NUBPL	OMIM:618242
HP:0025454	Abnormal CSF metabolite concentration	29078	NDUFAF4	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	374291	NDUFS7	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	374291	NDUFS7	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4700	NDUFA6	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4700	NDUFA6	OMIM:618253
HP:0025454	Abnormal CSF metabolite concentration	4536	MT-ND2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4536	MT-ND2	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4719	NDUFS1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4719	NDUFS1	OMIM:618226
HP:0025454	Abnormal CSF metabolite concentration	4719	NDUFS1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4715	NDUFB9	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	57128	LYRM4	OMIM:615595
HP:0025454	Abnormal CSF metabolite concentration	4570	MT-TN	OMIM:220110
HP:0025454	Abnormal CSF metabolite concentration	64849	SLC13A3	OMIM:618384
HP:0025454	Abnormal CSF metabolite concentration	92609	TIMM50	OMIM:617698
HP:0025454	Abnormal CSF metabolite concentration	10059	DNM1L	OMIM:614388
HP:0025454	Abnormal CSF metabolite concentration	6513	SLC2A1	OMIM:612126
HP:0025454	Abnormal CSF metabolite concentration	85476	GFM1	OMIM:609060
HP:0025454	Abnormal CSF metabolite concentration	4191	MDH2	OMIM:617339
HP:0025454	Abnormal CSF metabolite concentration	84334	COA8	ORPHA:436271
HP:0025454	Abnormal CSF metabolite concentration	90624	LYRM7	OMIM:615838
HP:0025454	Abnormal CSF metabolite concentration	123263	MTFMT	OMIM:614947
HP:0025454	Abnormal CSF metabolite concentration	123263	MTFMT	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	8659	ALDH4A1	ORPHA:79101
HP:0025454	Abnormal CSF metabolite concentration	10667	FARS2	OMIM:614946
HP:0025454	Abnormal CSF metabolite concentration	8050	PDHX	ORPHA:255182
HP:0025454	Abnormal CSF metabolite concentration	4577	MT-TV	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4508	MT-ATP6	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4566	MT-TK	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	51112	TRAPPC12	ORPHA:500144
HP:0025454	Abnormal CSF metabolite concentration	128240	NAXE	OMIM:617186
HP:0025454	Abnormal CSF metabolite concentration	291	SLC25A4	OMIM:617184
HP:0025454	Abnormal CSF metabolite concentration	291	SLC25A4	OMIM:615418
HP:0025454	Abnormal CSF metabolite concentration	65993	MRPS34	OMIM:617664
HP:0025454	Abnormal CSF metabolite concentration	25828	TXN2	ORPHA:478029
HP:0025454	Abnormal CSF metabolite concentration	25828	TXN2	OMIM:616811
HP:0025454	Abnormal CSF metabolite concentration	5160	PDHA1	OMIM:312170
HP:0025454	Abnormal CSF metabolite concentration	5160	PDHA1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	5160	PDHA1	ORPHA:79243
HP:0025454	Abnormal CSF metabolite concentration	56997	COQ8A	ORPHA:139485
HP:0025454	Abnormal CSF metabolite concentration	56997	COQ8A	OMIM:612016
HP:0025454	Abnormal CSF metabolite concentration	1352	COX10	OMIM:619046
HP:0025454	Abnormal CSF metabolite concentration	84340	GFM2	OMIM:618397
HP:0025454	Abnormal CSF metabolite concentration	84340	GFM2	ORPHA:565624
HP:0025454	Abnormal CSF metabolite concentration	54931	TRMT10C	OMIM:616974
HP:0025454	Abnormal CSF metabolite concentration	539	ATP5PO	OMIM:620359
HP:0025454	Abnormal CSF metabolite concentration	57038	RARS2	OMIM:611523
HP:0025454	Abnormal CSF metabolite concentration	4204	MECP2	ORPHA:778
HP:0025454	Abnormal CSF metabolite concentration	87178	PNPT1	ORPHA:319514
HP:0025454	Abnormal CSF metabolite concentration	87178	PNPT1	OMIM:614932
HP:0025454	Abnormal CSF metabolite concentration	1340	COX6B1	OMIM:619051
HP:0025454	Abnormal CSF metabolite concentration	6389	SDHA	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	80704	SLC19A3	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	55967	NDUFA12	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	55967	NDUFA12	OMIM:618244
HP:0025454	Abnormal CSF metabolite concentration	51204	TACO1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	137682	NDUFAF6	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	100131801	PET100	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	100131801	PET100	OMIM:619055
HP:0025454	Abnormal CSF metabolite concentration	1355	COX15	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	1892	ECHS1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	1892	ECHS1	OMIM:616277
HP:0025454	Abnormal CSF metabolite concentration	51079	NDUFA13	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4705	NDUFA10	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4705	NDUFA10	OMIM:618243
HP:0025454	Abnormal CSF metabolite concentration	51601	LIPT1	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4695	NDUFA2	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4697	NDUFA4	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	4697	NDUFA4	OMIM:619065
HP:0025454	Abnormal CSF metabolite concentration	4704	NDUFA9	ORPHA:255241
HP:0025454	Abnormal CSF metabolite concentration	84987	COX14	OMIM:619053
HP:0025454	Abnormal CSF metabolite concentration	1351	COX8A	OMIM:619059
HP:0025454	Abnormal CSF metabolite concentration	4358	MPV17	OMIM:618400
HP:0025454	Abnormal CSF metabolite concentration	116228	COX20	OMIM:619054
HP:0025454	Abnormal CSF metabolite concentration	200205	IBA57	OMIM:615330
HP:0025454	Abnormal CSF metabolite concentration	60386	SLC25A19	OMIM:613710
HP:0025454	Abnormal CSF metabolite concentration	55157	DARS2	ORPHA:137898
HP:0025454	Abnormal CSF metabolite concentration	55005	RMND1	OMIM:614922
HP:0025454	Abnormal CSF metabolite concentration	64116	SLC39A8	ORPHA:468699
HP:0025454	Abnormal CSF metabolite concentration	9361	LONP1	ORPHA:79243
HP:0025454	Abnormal CSF metabolite concentration	91647	ATPAF2	OMIM:604273
HP:0025454	Abnormal CSF metabolite concentration	8802	SUCLG1	OMIM:245400
HP:0025454	Abnormal CSF metabolite concentration	8802	SUCLG1	ORPHA:17
HP:0025454	Abnormal CSF metabolite concentration	100303755	PET117	OMIM:619063
HP:0025454	Abnormal CSF metabolite concentration	27247	NFU1	OMIM:605711
HP:0025454	Abnormal CSF metabolite concentration	84842	HPDL	OMIM:619026
HP:0025454	Abnormal CSF metabolite concentration	81570	CLPB	OMIM:616271
HP:0025454	Abnormal CSF metabolite concentration	8803	SUCLA2	OMIM:612073
HP:0025454	Abnormal CSF metabolite concentration	790955	UQCC3	OMIM:616111
HP:0025454	Abnormal CSF metabolite concentration	133686	NADK2	OMIM:616034
HP:0025454	Abnormal CSF metabolite concentration	50484	RRM2B	OMIM:612075
HP:0025454	Abnormal CSF metabolite concentration	27429	HTRA2	OMIM:617248
HP:0025454	Abnormal CSF metabolite concentration	84300	UQCC2	OMIM:615824
HP:0025454	Abnormal CSF metabolite concentration	79731	NARS2	OMIM:616239
HP:0025454	Abnormal CSF metabolite concentration	27010	TPK1	OMIM:614458
HP:0025454	Abnormal CSF metabolite concentration	3028	HSD17B10	ORPHA:391428
HP:0025454	Abnormal CSF metabolite concentration	4929	NR4A2	ORPHA:98808
HP:0025454	Abnormal CSF metabolite concentration	4929	NR4A2	OMIM:619911
HP:0025454	Abnormal CSF metabolite concentration	3615	IMPDH2	ORPHA:98808
HP:0025454	Abnormal CSF metabolite concentration	7054	TH	OMIM:605407
HP:0025454	Abnormal CSF metabolite concentration	7054	TH	ORPHA:101150
HP:0025454	Abnormal CSF metabolite concentration	55163	PNPO	ORPHA:79096
HP:0025454	Abnormal CSF metabolite concentration	55163	PNPO	OMIM:610090
HP:0025454	Abnormal CSF metabolite concentration	1644	DDC	OMIM:608643
HP:0025454	Abnormal CSF metabolite concentration	9256	TSPOAP1	ORPHA:101150
HP:0025454	Abnormal CSF metabolite concentration	11277	TREX1	OMIM:225750
HP:0025454	Abnormal CSF metabolite concentration	11277	TREX1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	10535	RNASEH2A	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	84153	RNASEH2C	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	25939	SAMHD1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	79621	RNASEH2B	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	103	ADAR	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	103	ADAR	OMIM:615010
HP:0025454	Abnormal CSF metabolite concentration	100147744	RNU7-1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	134353	LSM11	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	64135	IFIH1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	7187	TRAF3	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	81622	UNC93B1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	148022	TICAM1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	7098	TLR3	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	29110	TBK1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	50640	PNPLA8	OMIM:251950
HP:0025454	Abnormal CSF metabolite concentration	1719	DHFR	OMIM:613839
HP:0025454	Abnormal CSF metabolite concentration	6711	SPTBN1	OMIM:619475
HP:0025454	Abnormal CSF metabolite concentration	5805	PTS	OMIM:261640
HP:0025454	Abnormal CSF metabolite concentration	2074	ERCC6	OMIM:278800
HP:0025454	Abnormal CSF metabolite concentration	25915	NDUFAF3	ORPHA:70474
HP:0025454	Abnormal CSF metabolite concentration	4714	NDUFB8	ORPHA:70474
HP:0025454	Abnormal CSF metabolite concentration	4720	NDUFS2	ORPHA:70474
HP:0025454	Abnormal CSF metabolite concentration	9997	SCO2	ORPHA:70474
HP:0025454	Abnormal CSF metabolite concentration	6834	SURF1	ORPHA:70474
HP:0025454	Abnormal CSF metabolite concentration	443	ASPA	OMIM:271900
HP:0025454	Abnormal CSF metabolite concentration	7915	ALDH5A1	OMIM:271980
HP:0025454	Abnormal CSF metabolite concentration	1327	COX4I1	OMIM:619060
HP:0025454	Abnormal CSF metabolite concentration	6531	SLC6A3	OMIM:613135
HP:0025454	Abnormal CSF metabolite concentration	29968	PSAT1	OMIM:610992
HP:0025454	Abnormal CSF metabolite concentration	435	ASL	OMIM:207900
HP:0025454	Abnormal CSF metabolite concentration	6773	STAT2	OMIM:616636
HP:0025454	Abnormal CSF metabolite concentration	3735	KARS1	OMIM:619147
HP:0025454	Abnormal CSF metabolite concentration	55768	NGLY1	ORPHA:404454
HP:0025454	Abnormal CSF metabolite concentration	22934	RPIA	OMIM:608611
HP:0025454	Abnormal CSF metabolite concentration	1738	DLD	OMIM:246900
HP:0025454	Abnormal CSF metabolite concentration	2752	GLUL	OMIM:610015
HP:0025454	Abnormal CSF metabolite concentration	10157	AASS	ORPHA:2203
HP:0025454	Abnormal CSF metabolite concentration	132	ADK	OMIM:614300
HP:0025454	Abnormal CSF metabolite concentration	2643	GCH1	OMIM:233910
HP:0025454	Abnormal CSF metabolite concentration	388962	BOLA3	OMIM:614299
HP:0025454	Abnormal CSF metabolite concentration	132158	GLYCTK	ORPHA:941
HP:0025454	Abnormal CSF metabolite concentration	1737	DLAT	ORPHA:79244
HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	2335	FN1	ORPHA:93315
HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	1280	COL2A1	ORPHA:93315
HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	4882	NPR2	OMIM:615923
HP:0032209	Abnormal circulating free T3 concentration	7253	TSHR	OMIM:609152
HP:0032209	Abnormal circulating free T3 concentration	7068	THRB	OMIM:188570
HP:0032209	Abnormal circulating free T3 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0032209	Abnormal circulating free T3 concentration	79048	SECISBP2	ORPHA:171706
HP:0032209	Abnormal circulating free T3 concentration	79048	SECISBP2	OMIM:609698
HP:0032209	Abnormal circulating free T3 concentration	1482	NKX2-5	OMIM:225250
HP:0032209	Abnormal circulating free T3 concentration	5449	POU1F1	OMIM:613038
HP:0032209	Abnormal circulating free T3 concentration	8567	MADD	OMIM:619004
HP:0032209	Abnormal circulating free T3 concentration	7201	TRHR	ORPHA:99832
HP:0006353	Hypoplasia of the tooth germ	64135	IFIH1	OMIM:182250
HP:0006355	Agenesis of mandibular central incisor	9775	EIF4A3	OMIM:268305
HP:0006357	Premature loss of permanent teeth	249	ALPL	OMIM:146300
HP:0006357	Premature loss of permanent teeth	3691	ITGB4	OMIM:619816
HP:0006357	Premature loss of permanent teeth	847	CAT	ORPHA:926
HP:0006357	Premature loss of permanent teeth	284654	RSPO1	OMIM:610644
HP:0006357	Premature loss of permanent teeth	8626	TP63	OMIM:103285
HP:0006357	Premature loss of permanent teeth	1991	ELANE	ORPHA:2686
HP:0006357	Premature loss of permanent teeth	4038	LRP4	OMIM:212780
HP:0032210	Decreased circulating free T3	79048	SECISBP2	ORPHA:171706
HP:0032210	Decreased circulating free T3	79048	SECISBP2	OMIM:609698
HP:0032210	Decreased circulating free T3	1482	NKX2-5	OMIM:225250
HP:0032210	Decreased circulating free T3	5449	POU1F1	OMIM:613038
HP:0032210	Decreased circulating free T3	8567	MADD	OMIM:619004
HP:0032210	Decreased circulating free T3	7201	TRHR	ORPHA:99832
HP:0032215	Disseminated cutaneous warts	399	RHOH	OMIM:618307
HP:0032215	Disseminated cutaneous warts	920	CD4	OMIM:619238
HP:0032216	Lymphocytic infiltration of the colorectal mucosa	1493	CTLA4	OMIM:616100
HP:0032218	Decreased proportion of CD4-positive T cells	2137	EXTL3	ORPHA:508533
HP:0032218	Decreased proportion of CD4-positive T cells	3561	IL2RG	ORPHA:276
HP:0032218	Decreased proportion of CD4-positive T cells	3561	IL2RG	OMIM:312863
HP:0032218	Decreased proportion of CD4-positive T cells	57724	EPG5	OMIM:242840
HP:0032218	Decreased proportion of CD4-positive T cells	355	FAS	ORPHA:3261
HP:0032218	Decreased proportion of CD4-positive T cells	356	FASLG	ORPHA:3261
HP:0032218	Decreased proportion of CD4-positive T cells	5580	PRKCD	ORPHA:3261
HP:0032218	Decreased proportion of CD4-positive T cells	843	CASP10	ORPHA:3261
HP:0032218	Decreased proportion of CD4-positive T cells	10125	RASGRP1	ORPHA:3261
HP:0032218	Decreased proportion of CD4-positive T cells	5994	RFXAP	ORPHA:572
HP:0032218	Decreased proportion of CD4-positive T cells	4261	CIITA	ORPHA:572
HP:0032218	Decreased proportion of CD4-positive T cells	5993	RFX5	ORPHA:572
HP:0032218	Decreased proportion of CD4-positive T cells	8625	RFXANK	ORPHA:572
HP:0032218	Decreased proportion of CD4-positive T cells	7454	WAS	OMIM:301000
HP:0032218	Decreased proportion of CD4-positive T cells	84061	MAGT1	OMIM:300853
HP:0032218	Decreased proportion of CD4-positive T cells	10043	TOM1	OMIM:619510
HP:0032218	Decreased proportion of CD4-positive T cells	3702	ITK	OMIM:613011
HP:0032218	Decreased proportion of CD4-positive T cells	10625	IVNS1ABP	OMIM:618969
HP:0032218	Decreased proportion of CD4-positive T cells	5238	PGM3	ORPHA:443811
HP:0032218	Decreased proportion of CD4-positive T cells	3551	IKBKB	OMIM:618204
HP:0032218	Decreased proportion of CD4-positive T cells	3932	LCK	OMIM:615758
HP:0032218	Decreased proportion of CD4-positive T cells	54440	SASH3	OMIM:301082
HP:0032218	Decreased proportion of CD4-positive T cells	9094	UNC119	OMIM:615518
HP:0032218	Decreased proportion of CD4-positive T cells	5293	PIK3CD	ORPHA:221139
HP:0032218	Decreased proportion of CD4-positive T cells	90417	KNSTRN	ORPHA:221139
HP:0032218	Decreased proportion of CD4-positive T cells	4609	MYC	ORPHA:543
HP:0032218	Decreased proportion of CD4-positive T cells	3575	IL7R	ORPHA:169154
HP:0032218	Decreased proportion of CD4-positive T cells	81704	DOCK8	OMIM:243700
HP:0032218	Decreased proportion of CD4-positive T cells	56160	NSMCE3	OMIM:617241
HP:0032218	Decreased proportion of CD4-positive T cells	472	ATM	OMIM:208900
HP:0032218	Decreased proportion of CD4-positive T cells	3953	LEPR	ORPHA:179494
HP:0032218	Decreased proportion of CD4-positive T cells	3952	LEP	ORPHA:66628
HP:0032218	Decreased proportion of CD4-positive T cells	27040	LAT	OMIM:617514
HP:0032218	Decreased proportion of CD4-positive T cells	10159	ATP6AP2	OMIM:301045
HP:0032218	Decreased proportion of CD4-positive T cells	641	BLM	ORPHA:125
HP:0032218	Decreased proportion of CD4-positive T cells	920	CD4	OMIM:619238
HP:0032218	Decreased proportion of CD4-positive T cells	3937	LCP2	OMIM:619374
HP:0032218	Decreased proportion of CD4-positive T cells	50619	DEF6	OMIM:619573
HP:0032219	Increased proportion of CD4-positive T cells	90268	OTULIN	OMIM:617099
HP:0005089	Abnormal metaphyseal trabeculation	59341	TRPV4	OMIM:156530
HP:0005089	Abnormal metaphyseal trabeculation	3977	LIFR	OMIM:601559
HP:0005089	Abnormal metaphyseal trabeculation	7421	VDR	ORPHA:93160
HP:0005089	Abnormal metaphyseal trabeculation	5331	PLCB3	OMIM:618961
HP:0005089	Abnormal metaphyseal trabeculation	64840	PORCN	ORPHA:2092
HP:0005089	Abnormal metaphyseal trabeculation	80169	CTC1	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	26277	TINF2	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	55651	NHP2	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	79650	USB1	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	55135	WRAP53	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	51750	RTEL1	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	4869	NPM1	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	7012	TERC	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	55505	NOP10	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	5073	PARN	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	7015	TERT	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	1736	DKC1	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	7298	TYMS	ORPHA:1775
HP:0005089	Abnormal metaphyseal trabeculation	4982	TNFRSF11B	ORPHA:2801
HP:0005089	Abnormal metaphyseal trabeculation	8792	TNFRSF11A	ORPHA:2801
HP:0005089	Abnormal metaphyseal trabeculation	8792	TNFRSF11A	ORPHA:1782
HP:0005089	Abnormal metaphyseal trabeculation	10312	TCIRG1	ORPHA:1782
HP:0005089	Abnormal metaphyseal trabeculation	55315	SLC29A3	ORPHA:1782
HP:0005089	Abnormal metaphyseal trabeculation	139285	AMER1	ORPHA:2780
HP:0005089	Abnormal metaphyseal trabeculation	4853	NOTCH2	ORPHA:955
HP:0006361	Irregular femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0006361	Irregular femoral epiphysis	59341	TRPV4	OMIM:184252
HP:0006361	Irregular femoral epiphysis	9719	ADAMTSL2	OMIM:231050
HP:0006361	Irregular femoral epiphysis	5830	PEX5	OMIM:616716
HP:0006361	Irregular femoral epiphysis	6137	RPL13	OMIM:618728
HP:0006361	Irregular femoral epiphysis	1280	COL2A1	OMIM:108300
HP:0006361	Irregular femoral epiphysis	100151683	RNU4ATAC	OMIM:616651
HP:0006361	Irregular femoral epiphysis	990	CDC6	OMIM:613805
HP:0006361	Irregular femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0006361	Irregular femoral epiphysis	1301	COL11A1	OMIM:154780
HP:0006362	Varus deformity of humeral neck	79158	GNPTAB	OMIM:252500
HP:0002982	Tibial bowing	4322	MMP13	OMIM:602111
HP:0002982	Tibial bowing	4322	MMP13	ORPHA:93356
HP:0002982	Tibial bowing	2261	FGFR3	OMIM:616482
HP:0002982	Tibial bowing	2261	FGFR3	ORPHA:85165
HP:0002982	Tibial bowing	65250	CPLANE1	OMIM:277170
HP:0002982	Tibial bowing	1184	CLCN5	OMIM:300554
HP:0002982	Tibial bowing	1184	CLCN5	OMIM:300009
HP:0002982	Tibial bowing	142680	SLC34A3	OMIM:241530
HP:0002982	Tibial bowing	9158	FIBP	ORPHA:500095
HP:0002982	Tibial bowing	1594	CYP27B1	ORPHA:289157
HP:0002982	Tibial bowing	1594	CYP27B1	OMIM:264700
HP:0002982	Tibial bowing	120227	CYP2R1	ORPHA:289157
HP:0002982	Tibial bowing	120227	CYP2R1	OMIM:600081
HP:0002982	Tibial bowing	2335	FN1	ORPHA:93315
HP:0002982	Tibial bowing	1280	COL2A1	ORPHA:93315
HP:0002982	Tibial bowing	1280	COL2A1	OMIM:156550
HP:0002982	Tibial bowing	23314	SATB2	ORPHA:251028
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:259420
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:114000
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:166210
HP:0002982	Tibial bowing	1278	COL1A2	OMIM:259420
HP:0002982	Tibial bowing	1278	COL1A2	OMIM:166210
HP:0002982	Tibial bowing	6473	SHOX	OMIM:127300
HP:0002982	Tibial bowing	6473	SHOX	ORPHA:314795
HP:0002982	Tibial bowing	6473	SHOX	ORPHA:240
HP:0002982	Tibial bowing	6662	SOX9	ORPHA:140
HP:0002982	Tibial bowing	6662	SOX9	OMIM:114290
HP:0002982	Tibial bowing	5159	PDGFRB	OMIM:601812
HP:0002982	Tibial bowing	22858	CILK1	OMIM:612651
HP:0002982	Tibial bowing	64093	SMOC1	OMIM:206920
HP:0002982	Tibial bowing	64093	SMOC1	ORPHA:1106
HP:0002982	Tibial bowing	4041	LRP5	OMIM:259770
HP:0002982	Tibial bowing	388015	RTL1	ORPHA:96334
HP:0002982	Tibial bowing	8788	DLK1	ORPHA:96334
HP:0002982	Tibial bowing	55384	MEG3	ORPHA:96334
HP:0002982	Tibial bowing	2316	FLNA	OMIM:304120
HP:0002982	Tibial bowing	2316	FLNA	OMIM:309350
HP:0002982	Tibial bowing	64175	P3H1	OMIM:610915
HP:0002982	Tibial bowing	54808	DYM	OMIM:223800
HP:0002982	Tibial bowing	5251	PHEX	OMIM:307800
HP:0002982	Tibial bowing	6023	RMRP	ORPHA:175
HP:0002982	Tibial bowing	1758	DMP1	ORPHA:289176
HP:0002982	Tibial bowing	5167	ENPP1	ORPHA:289176
HP:0002982	Tibial bowing	8218	CLTCL1	ORPHA:453510
HP:0002982	Tibial bowing	9469	CHST3	OMIM:143095
HP:0002982	Tibial bowing	92344	GORAB	OMIM:231070
HP:0002982	Tibial bowing	2317	FLNB	OMIM:108721
HP:0002982	Tibial bowing	2317	FLNB	OMIM:108720
HP:0002982	Tibial bowing	1302	COL11A2	ORPHA:1427
HP:0002982	Tibial bowing	3977	LIFR	OMIM:601559
HP:0002982	Tibial bowing	7421	VDR	OMIM:277440
HP:0002982	Tibial bowing	5116	PCNT	OMIM:210720
HP:0002982	Tibial bowing	5130	PCYT1A	OMIM:608940
HP:0002982	Tibial bowing	26040	SETBP1	OMIM:269150
HP:0002982	Tibial bowing	26040	SETBP1	ORPHA:798
HP:0002982	Tibial bowing	871	SERPINH1	OMIM:613848
HP:0002982	Tibial bowing	1300	COL10A1	OMIM:156500
HP:0009824	Upper limb undergrowth	9935	MAFB	ORPHA:233
HP:0009824	Upper limb undergrowth	1123	CHN1	ORPHA:233
HP:0009824	Upper limb undergrowth	4882	NPR2	OMIM:602875
HP:0009824	Upper limb undergrowth	10262	SF3B4	OMIM:154400
HP:0009824	Upper limb undergrowth	10262	SF3B4	ORPHA:245
HP:0009824	Upper limb undergrowth	28981	IFT81	OMIM:617895
HP:0009824	Upper limb undergrowth	92002	CCNQ	ORPHA:140952
HP:0009824	Upper limb undergrowth	2261	FGFR3	ORPHA:2363
HP:0009824	Upper limb undergrowth	2255	FGF10	ORPHA:2363
HP:0009824	Upper limb undergrowth	9321	TRIP11	OMIM:200600
HP:0009824	Upper limb undergrowth	7476	WNT7A	OMIM:228930
HP:0009824	Upper limb undergrowth	7476	WNT7A	ORPHA:2879
HP:0009824	Upper limb undergrowth	7476	WNT7A	OMIM:276820
HP:0009824	Upper limb undergrowth	25836	NIPBL	OMIM:122470
HP:0009824	Upper limb undergrowth	6223	RPS19	OMIM:105650
HP:0009824	Upper limb undergrowth	79087	ALG12	OMIM:607143
HP:0009824	Upper limb undergrowth	9775	EIF4A3	OMIM:268305
HP:0009824	Upper limb undergrowth	1280	COL2A1	OMIM:271700
HP:0009824	Upper limb undergrowth	1280	COL2A1	ORPHA:1856
HP:0009824	Upper limb undergrowth	5573	PRKAR1A	ORPHA:950
HP:0009824	Upper limb undergrowth	5144	PDE4D	ORPHA:950
HP:0009824	Upper limb undergrowth	8200	GDF5	OMIM:200700
HP:0009824	Upper limb undergrowth	8200	GDF5	ORPHA:93388
HP:0009824	Upper limb undergrowth	8200	GDF5	OMIM:201250
HP:0009824	Upper limb undergrowth	79659	DYNC2H1	OMIM:613091
HP:0009824	Upper limb undergrowth	51604	PIGT	OMIM:615398
HP:0009824	Upper limb undergrowth	57167	SALL4	OMIM:147750
HP:0009824	Upper limb undergrowth	57167	SALL4	OMIM:607323
HP:0009824	Upper limb undergrowth	57167	SALL4	ORPHA:959
HP:0009824	Upper limb undergrowth	2263	FGFR2	OMIM:149730
HP:0009824	Upper limb undergrowth	9820	CUL7	ORPHA:2616
HP:0009824	Upper limb undergrowth	23363	OBSL1	ORPHA:2616
HP:0009824	Upper limb undergrowth	83987	CCDC8	ORPHA:2616
HP:0009824	Upper limb undergrowth	6154	RPL26	OMIM:614900
HP:0009824	Upper limb undergrowth	6473	SHOX	OMIM:127300
HP:0009824	Upper limb undergrowth	6473	SHOX	OMIM:249700
HP:0009824	Upper limb undergrowth	6473	SHOX	ORPHA:240
HP:0009824	Upper limb undergrowth	145258	GSC	OMIM:602471
HP:0009824	Upper limb undergrowth	23233	EXOC6B	OMIM:618395
HP:0009824	Upper limb undergrowth	1723	DHODH	OMIM:263750
HP:0009824	Upper limb undergrowth	1723	DHODH	ORPHA:246
HP:0009824	Upper limb undergrowth	182	JAG1	OMIM:118450
HP:0009824	Upper limb undergrowth	4038	LRP4	ORPHA:3258
HP:0009824	Upper limb undergrowth	4038	LRP4	OMIM:212780
HP:0009824	Upper limb undergrowth	324	APC	ORPHA:3258
HP:0009824	Upper limb undergrowth	3549	IHH	ORPHA:93388
HP:0009824	Upper limb undergrowth	3549	IHH	OMIM:607778
HP:0009824	Upper limb undergrowth	658	BMPR1B	ORPHA:93388
HP:0009824	Upper limb undergrowth	658	BMPR1B	OMIM:609441
HP:0009824	Upper limb undergrowth	57020	VPS35L	OMIM:619135
HP:0009824	Upper limb undergrowth	9469	CHST3	OMIM:143095
HP:0009824	Upper limb undergrowth	672	BRCA1	ORPHA:84
HP:0009824	Upper limb undergrowth	10459	MAD2L2	ORPHA:84
HP:0009824	Upper limb undergrowth	7516	XRCC2	ORPHA:84
HP:0009824	Upper limb undergrowth	29089	UBE2T	ORPHA:84
HP:0009824	Upper limb undergrowth	675	BRCA2	ORPHA:84
HP:0009824	Upper limb undergrowth	55120	FANCL	ORPHA:84
HP:0009824	Upper limb undergrowth	2177	FANCD2	ORPHA:84
HP:0009824	Upper limb undergrowth	2175	FANCA	ORPHA:84
HP:0009824	Upper limb undergrowth	2187	FANCB	ORPHA:84
HP:0009824	Upper limb undergrowth	2176	FANCC	ORPHA:84
HP:0009824	Upper limb undergrowth	2178	FANCE	ORPHA:84
HP:0009824	Upper limb undergrowth	2188	FANCF	ORPHA:84
HP:0009824	Upper limb undergrowth	2189	FANCG	ORPHA:84
HP:0009824	Upper limb undergrowth	5888	RAD51	ORPHA:84
HP:0009824	Upper limb undergrowth	5889	RAD51C	ORPHA:84
HP:0009824	Upper limb undergrowth	55159	RFWD3	ORPHA:84
HP:0009824	Upper limb undergrowth	83990	BRIP1	ORPHA:84
HP:0009824	Upper limb undergrowth	57697	FANCM	ORPHA:84
HP:0009824	Upper limb undergrowth	79728	PALB2	ORPHA:84
HP:0009824	Upper limb undergrowth	84464	SLX4	ORPHA:84
HP:0009824	Upper limb undergrowth	2072	ERCC4	ORPHA:84
HP:0009824	Upper limb undergrowth	55215	FANCI	ORPHA:84
HP:0009824	Upper limb undergrowth	9939	RBM8A	OMIM:274000
HP:0009824	Upper limb undergrowth	9241	NOG	OMIM:186500
HP:0009824	Upper limb undergrowth	157570	ESCO2	OMIM:268300
HP:0009824	Upper limb undergrowth	6910	TBX5	OMIM:142900
HP:0009824	Upper limb undergrowth	9401	RECQL4	OMIM:218600
HP:0009824	Upper limb undergrowth	6926	TBX3	OMIM:181450
HP:0009824	Upper limb undergrowth	567	B2M	OMIM:241600
HP:0009824	Upper limb undergrowth	55636	CHD7	OMIM:214800
HP:0009824	Upper limb undergrowth	91179	SCARF2	OMIM:600920
HP:0009824	Upper limb undergrowth	4920	ROR2	OMIM:268310
HP:0009824	Upper limb undergrowth	545	ATR	OMIM:210600
HP:0009824	Upper limb undergrowth	27125	AFF4	ORPHA:444077
HP:0009824	Upper limb undergrowth	8241	RBM10	ORPHA:2886
HP:0009824	Upper limb undergrowth	2131	EXT1	ORPHA:321
HP:0009824	Upper limb undergrowth	2132	EXT2	ORPHA:321
HP:0009824	Upper limb undergrowth	29980	DONSON	OMIM:251230
HP:0009824	Upper limb undergrowth	1836	SLC26A2	ORPHA:56304
HP:0009824	Upper limb undergrowth	1836	SLC26A2	ORPHA:93307
HP:0009824	Upper limb undergrowth	8813	DPM1	OMIM:608799
HP:0009824	Upper limb undergrowth	5718	PSMD12	ORPHA:529962
HP:0009824	Upper limb undergrowth	2186	BPTF	ORPHA:529962
HP:0009824	Upper limb undergrowth	2335	FN1	ORPHA:93315
HP:0009824	Upper limb undergrowth	1147	CHUK	OMIM:613630
HP:0009824	Upper limb undergrowth	3930	LBR	OMIM:169400
HP:0009824	Upper limb undergrowth	388015	RTL1	ORPHA:96334
HP:0009824	Upper limb undergrowth	8788	DLK1	ORPHA:96334
HP:0009824	Upper limb undergrowth	55384	MEG3	ORPHA:96334
HP:0009824	Upper limb undergrowth	219844	HYLS1	OMIM:236680
HP:0006434	Hypoplasia of proximal radius	545	ATR	OMIM:210600
HP:0006434	Hypoplasia of proximal radius	27125	AFF4	ORPHA:444077
HP:0006434	Hypoplasia of proximal radius	8241	RBM10	ORPHA:2886
HP:0006366	Adductor longus contractures	4976	OPA1	OMIM:210000
HP:0006367	Crumpled long bones	4041	LRP5	ORPHA:2788
HP:0006367	Crumpled long bones	10491	CRTAP	OMIM:610682
HP:0006367	Crumpled long bones	1277	COL1A1	OMIM:166210
HP:0006367	Crumpled long bones	1278	COL1A2	OMIM:166210
HP:0006367	Crumpled long bones	9871	SEC24D	ORPHA:2050
HP:0006367	Crumpled long bones	5034	P4HB	ORPHA:2050
HP:0006368	Forearm reduction defects	9401	RECQL4	OMIM:268400
HP:0006368	Forearm reduction defects	6154	RPL26	OMIM:614900
HP:0032220	Interface hepatitis	57217	TTC7A	OMIM:243150
HP:0032220	Interface hepatitis	84342	COG8	OMIM:611182
HP:0032222	Serrated intestinal polyps	54894	RNF43	OMIM:617108
HP:0032226	Abnormal sebaceous gland morphology	3229	HOXC13	OMIM:614931
HP:0032226	Abnormal sebaceous gland morphology	201163	FLCN	OMIM:135150
HP:0032227	Sebaceous hyperplasia	201163	FLCN	OMIM:135150
HP:0032228	Trichodiscoma	201163	FLCN	OMIM:135150
HP:0032229	Perinuclear antineutrophil antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0032229	Perinuclear antineutrophil antibody positivity	10095	ARPC1B	OMIM:617718
HP:0032229	Perinuclear antineutrophil antibody positivity	60468	BACH2	OMIM:618394
HP:0032229	Perinuclear antineutrophil antibody positivity	50619	DEF6	OMIM:619573
HP:0032229	Perinuclear antineutrophil antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0006371	Broad long bone diaphyses	57728	WDR19	OMIM:614376
HP:0006371	Broad long bone diaphyses	7030	TFE3	OMIM:301066
HP:0006371	Broad long bone diaphyses	633	BGN	OMIM:300106
HP:0006371	Broad long bone diaphyses	2720	GLB1	ORPHA:79255
HP:0006495	Aplasia/Hypoplasia of the ulna	1280	COL2A1	OMIM:271700
HP:0006495	Aplasia/Hypoplasia of the ulna	1280	COL2A1	ORPHA:1856
HP:0006495	Aplasia/Hypoplasia of the ulna	5573	PRKAR1A	ORPHA:950
HP:0006495	Aplasia/Hypoplasia of the ulna	5144	PDE4D	ORPHA:950
HP:0006495	Aplasia/Hypoplasia of the ulna	8200	GDF5	OMIM:200700
HP:0006495	Aplasia/Hypoplasia of the ulna	8200	GDF5	ORPHA:93388
HP:0006495	Aplasia/Hypoplasia of the ulna	8200	GDF5	OMIM:201250
HP:0006495	Aplasia/Hypoplasia of the ulna	79659	DYNC2H1	OMIM:613091
HP:0006495	Aplasia/Hypoplasia of the ulna	51604	PIGT	OMIM:615398
HP:0006495	Aplasia/Hypoplasia of the ulna	57167	SALL4	OMIM:147750
HP:0006495	Aplasia/Hypoplasia of the ulna	57167	SALL4	OMIM:607323
HP:0006495	Aplasia/Hypoplasia of the ulna	57167	SALL4	ORPHA:959
HP:0006495	Aplasia/Hypoplasia of the ulna	2263	FGFR2	OMIM:149730
HP:0006495	Aplasia/Hypoplasia of the ulna	9820	CUL7	ORPHA:2616
HP:0006495	Aplasia/Hypoplasia of the ulna	23363	OBSL1	ORPHA:2616
HP:0006495	Aplasia/Hypoplasia of the ulna	83987	CCDC8	ORPHA:2616
HP:0006495	Aplasia/Hypoplasia of the ulna	6154	RPL26	OMIM:614900
HP:0006495	Aplasia/Hypoplasia of the ulna	6473	SHOX	OMIM:127300
HP:0006495	Aplasia/Hypoplasia of the ulna	6473	SHOX	OMIM:249700
HP:0006495	Aplasia/Hypoplasia of the ulna	6473	SHOX	ORPHA:240
HP:0006495	Aplasia/Hypoplasia of the ulna	145258	GSC	OMIM:602471
HP:0006495	Aplasia/Hypoplasia of the ulna	23233	EXOC6B	OMIM:618395
HP:0006495	Aplasia/Hypoplasia of the ulna	1723	DHODH	OMIM:263750
HP:0006495	Aplasia/Hypoplasia of the ulna	1723	DHODH	ORPHA:246
HP:0006495	Aplasia/Hypoplasia of the ulna	182	JAG1	OMIM:118450
HP:0006495	Aplasia/Hypoplasia of the ulna	4038	LRP4	ORPHA:3258
HP:0006495	Aplasia/Hypoplasia of the ulna	4038	LRP4	OMIM:212780
HP:0006495	Aplasia/Hypoplasia of the ulna	324	APC	ORPHA:3258
HP:0006495	Aplasia/Hypoplasia of the ulna	3549	IHH	ORPHA:93388
HP:0006495	Aplasia/Hypoplasia of the ulna	3549	IHH	OMIM:607778
HP:0006495	Aplasia/Hypoplasia of the ulna	658	BMPR1B	ORPHA:93388
HP:0006495	Aplasia/Hypoplasia of the ulna	658	BMPR1B	OMIM:609441
HP:0006495	Aplasia/Hypoplasia of the ulna	57020	VPS35L	OMIM:619135
HP:0006495	Aplasia/Hypoplasia of the ulna	9469	CHST3	OMIM:143095
HP:0006495	Aplasia/Hypoplasia of the ulna	672	BRCA1	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	10459	MAD2L2	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	7516	XRCC2	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	29089	UBE2T	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	675	BRCA2	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	55120	FANCL	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2177	FANCD2	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2175	FANCA	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2187	FANCB	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2176	FANCC	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2178	FANCE	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2188	FANCF	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2189	FANCG	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	5888	RAD51	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	5889	RAD51C	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	55159	RFWD3	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	83990	BRIP1	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	57697	FANCM	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	79728	PALB2	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	84464	SLX4	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	2072	ERCC4	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	55215	FANCI	ORPHA:84
HP:0006495	Aplasia/Hypoplasia of the ulna	9939	RBM8A	OMIM:274000
HP:0006495	Aplasia/Hypoplasia of the ulna	9241	NOG	OMIM:186500
HP:0006495	Aplasia/Hypoplasia of the ulna	9401	RECQL4	OMIM:218600
HP:0006495	Aplasia/Hypoplasia of the ulna	567	B2M	OMIM:241600
HP:0006495	Aplasia/Hypoplasia of the ulna	55636	CHD7	OMIM:214800
HP:0006495	Aplasia/Hypoplasia of the ulna	157570	ESCO2	OMIM:268300
HP:0006495	Aplasia/Hypoplasia of the ulna	6910	TBX5	OMIM:142900
HP:0006495	Aplasia/Hypoplasia of the ulna	7476	WNT7A	ORPHA:2879
HP:0006495	Aplasia/Hypoplasia of the ulna	7476	WNT7A	OMIM:276820
HP:0006495	Aplasia/Hypoplasia of the ulna	64327	LMBR1	OMIM:200500
HP:0006495	Aplasia/Hypoplasia of the ulna	64327	LMBR1	ORPHA:931
HP:0006495	Aplasia/Hypoplasia of the ulna	6926	TBX3	OMIM:181450
HP:0006495	Aplasia/Hypoplasia of the ulna	91179	SCARF2	OMIM:600920
HP:0006495	Aplasia/Hypoplasia of the ulna	4920	ROR2	OMIM:268310
HP:0006495	Aplasia/Hypoplasia of the ulna	727857	BHLHA9	ORPHA:3329
HP:0006495	Aplasia/Hypoplasia of the ulna	727857	BHLHA9	ORPHA:1986
HP:0006495	Aplasia/Hypoplasia of the ulna	2317	FLNB	OMIM:108720
HP:0006495	Aplasia/Hypoplasia of the ulna	10262	SF3B4	ORPHA:1788
HP:0002990	Fibular aplasia	139285	AMER1	OMIM:300373
HP:0002990	Fibular aplasia	64327	LMBR1	OMIM:200500
HP:0002990	Fibular aplasia	64327	LMBR1	ORPHA:931
HP:0002990	Fibular aplasia	65250	CPLANE1	OMIM:277170
HP:0002990	Fibular aplasia	7476	WNT7A	OMIM:228930
HP:0002990	Fibular aplasia	7476	WNT7A	ORPHA:2879
HP:0002990	Fibular aplasia	7476	WNT7A	OMIM:276820
HP:0002990	Fibular aplasia	9939	RBM8A	ORPHA:3320
HP:0002990	Fibular aplasia	9939	RBM8A	OMIM:274000
HP:0002990	Fibular aplasia	2317	FLNB	OMIM:108720
HP:0002990	Fibular aplasia	2317	FLNB	ORPHA:56305
HP:0002990	Fibular aplasia	2317	FLNB	OMIM:112310
HP:0002990	Fibular aplasia	658	BMPR1B	OMIM:609441
HP:0002990	Fibular aplasia	8200	GDF5	OMIM:228900
HP:0002990	Fibular aplasia	6913	TBX15	OMIM:260660
HP:0002990	Fibular aplasia	2316	FLNA	ORPHA:90652
HP:0006498	Aplasia/Hypoplasia of the patella	10804	GJB6	ORPHA:477
HP:0006498	Aplasia/Hypoplasia of the patella	2706	GJB2	ORPHA:477
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	ORPHA:2614
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	OMIM:161200
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	ORPHA:495818
HP:0006498	Aplasia/Hypoplasia of the patella	9401	RECQL4	ORPHA:221016
HP:0006498	Aplasia/Hypoplasia of the patella	9401	RECQL4	OMIM:218600
HP:0006498	Aplasia/Hypoplasia of the patella	9496	TBX4	OMIM:147891
HP:0006498	Aplasia/Hypoplasia of the patella	9496	TBX4	ORPHA:261279
HP:0006498	Aplasia/Hypoplasia of the patella	57688	ZSWIM6	ORPHA:1827
HP:0006498	Aplasia/Hypoplasia of the patella	57688	ZSWIM6	OMIM:603671
HP:0006498	Aplasia/Hypoplasia of the patella	5307	PITX1	OMIM:119800
HP:0006498	Aplasia/Hypoplasia of the patella	55148	UBR7	OMIM:619189
HP:0006498	Aplasia/Hypoplasia of the patella	6812	STXBP1	ORPHA:495818
HP:0006498	Aplasia/Hypoplasia of the patella	29980	DONSON	OMIM:617604
HP:0006498	Aplasia/Hypoplasia of the patella	6662	SOX9	OMIM:114290
HP:0006498	Aplasia/Hypoplasia of the patella	54496	PRMT7	ORPHA:464288
HP:0006498	Aplasia/Hypoplasia of the patella	23594	ORC6	OMIM:613803
HP:0006498	Aplasia/Hypoplasia of the patella	64682	ANAPC1	ORPHA:221008
HP:0006498	Aplasia/Hypoplasia of the patella	1146	CHRNG	OMIM:265000
HP:0006498	Aplasia/Hypoplasia of the patella	7476	WNT7A	OMIM:228930
HP:0006498	Aplasia/Hypoplasia of the patella	23522	KAT6B	OMIM:606170
HP:0006498	Aplasia/Hypoplasia of the patella	23522	KAT6B	ORPHA:85201
HP:0006498	Aplasia/Hypoplasia of the patella	727857	BHLHA9	ORPHA:3329
HP:0006498	Aplasia/Hypoplasia of the patella	64327	LMBR1	ORPHA:988
HP:0006498	Aplasia/Hypoplasia of the patella	64327	LMBR1	OMIM:135750
HP:0006498	Aplasia/Hypoplasia of the patella	6469	SHH	ORPHA:988
HP:0006498	Aplasia/Hypoplasia of the patella	157570	ESCO2	ORPHA:3103
HP:0006498	Aplasia/Hypoplasia of the patella	81620	CDT1	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	81620	CDT1	OMIM:613804
HP:0006498	Aplasia/Hypoplasia of the patella	5000	ORC4	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	5000	ORC4	OMIM:613800
HP:0006498	Aplasia/Hypoplasia of the patella	990	CDC6	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	990	CDC6	OMIM:613805
HP:0006498	Aplasia/Hypoplasia of the patella	51053	GMNN	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	51053	GMNN	OMIM:616835
HP:0006498	Aplasia/Hypoplasia of the patella	6473	SHOX	ORPHA:240
HP:0006498	Aplasia/Hypoplasia of the patella	8200	GDF5	OMIM:200700
HP:0006498	Aplasia/Hypoplasia of the patella	57492	ARID1B	OMIM:135900
HP:0006498	Aplasia/Hypoplasia of the patella	8318	CDC45	OMIM:617063
HP:0006498	Aplasia/Hypoplasia of the patella	4998	ORC1	OMIM:224690
HP:0006498	Aplasia/Hypoplasia of the patella	9939	RBM8A	ORPHA:3320
HP:0006498	Aplasia/Hypoplasia of the patella	60681	FKBP10	ORPHA:1149
HP:0006375	Dumbbell-shaped femur	1280	COL2A1	ORPHA:485
HP:0006375	Dumbbell-shaped femur	1280	COL2A1	OMIM:156550
HP:0006375	Dumbbell-shaped femur	1836	SLC26A2	ORPHA:56304
HP:0006375	Dumbbell-shaped femur	1836	SLC26A2	OMIM:256050
HP:0006375	Dumbbell-shaped femur	59341	TRPV4	OMIM:156530
HP:0006375	Dumbbell-shaped femur	59341	TRPV4	OMIM:184252
HP:0006375	Dumbbell-shaped femur	1302	COL11A2	ORPHA:1427
HP:0006376	Limited elbow flexion	51305	KCNK9	ORPHA:166108
HP:0006376	Limited elbow flexion	5745	PTH1R	ORPHA:79106
HP:0006376	Limited elbow flexion	9499	MYOT	ORPHA:266
HP:0006376	Limited elbow flexion	2535	FZD2	OMIM:164745
HP:0006376	Limited elbow flexion	10082	GPC6	OMIM:258315
HP:0006376	Limited elbow flexion	1836	SLC26A2	OMIM:226900
HP:0006376	Limited elbow flexion	9469	CHST3	OMIM:143095
HP:0006376	Limited elbow flexion	4010	LMX1B	ORPHA:495818
HP:0006376	Limited elbow flexion	6812	STXBP1	ORPHA:495818
HP:0006376	Limited elbow flexion	171023	ASXL1	ORPHA:97297
HP:0005871	Metaphyseal chondrodysplasia	9131	AIFM1	ORPHA:83629
HP:0005871	Metaphyseal chondrodysplasia	6023	RMRP	ORPHA:175
HP:0005871	Metaphyseal chondrodysplasia	1300	COL10A1	OMIM:156500
HP:0005871	Metaphyseal chondrodysplasia	5745	PTH1R	OMIM:156400
HP:0005871	Metaphyseal chondrodysplasia	51119	SBDS	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	51119	SBDS	ORPHA:811
HP:0005871	Metaphyseal chondrodysplasia	134218	DNAJC21	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	134218	DNAJC21	ORPHA:811
HP:0005871	Metaphyseal chondrodysplasia	6729	SRP54	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	6729	SRP54	ORPHA:811
HP:0005871	Metaphyseal chondrodysplasia	2879	GPX4	ORPHA:93317
HP:0005871	Metaphyseal chondrodysplasia	2261	FGFR3	ORPHA:85165
HP:0005871	Metaphyseal chondrodysplasia	10013	HDAC6	ORPHA:163966
HP:0005871	Metaphyseal chondrodysplasia	10283	CWC27	OMIM:250410
HP:0005871	Metaphyseal chondrodysplasia	10283	CWC27	ORPHA:166035
HP:0005871	Metaphyseal chondrodysplasia	10195	ALG3	ORPHA:79321
HP:0005871	Metaphyseal chondrodysplasia	4322	MMP13	OMIM:250400
HP:0005871	Metaphyseal chondrodysplasia	4322	MMP13	ORPHA:2501
HP:0005871	Metaphyseal chondrodysplasia	79631	EFL1	ORPHA:811
HP:0006379	Proximal tibial hypoplasia	219844	HYLS1	OMIM:236680
HP:0032230	Cytoplasmic antineutrophil antibody positivity	340061	STING1	OMIM:615934
HP:0032230	Cytoplasmic antineutrophil antibody positivity	440275	EIF2AK4	ORPHA:199241
HP:0032231	Hypochromia	4891	SLC11A2	OMIM:206100
HP:0032231	Hypochromia	55240	STEAP3	OMIM:615234
HP:0032231	Hypochromia	7372	UMPS	OMIM:258900
HP:0032231	Hypochromia	54977	SLC25A38	OMIM:205950
HP:0032231	Hypochromia	3043	HBB	ORPHA:2133
HP:0032231	Hypochromia	51218	GLRX5	OMIM:616860
HP:0032231	Hypochromia	6005	RHAG	ORPHA:71275
HP:0032231	Hypochromia	6006	RHCE	ORPHA:71275
HP:0032231	Hypochromia	6007	RHD	ORPHA:71275
HP:0032232	Increased circulating creatine kinase MB isoform	2548	GAA	OMIM:232300
HP:0032232	Increased circulating creatine kinase MB isoform	1756	DMD	OMIM:302045
HP:0032232	Increased circulating creatine kinase MB isoform	2273	FHL1	OMIM:300280
HP:0032232	Increased circulating creatine kinase MB isoform	1829	DSG2	OMIM:610193
HP:0032232	Increased circulating creatine kinase MB isoform	10463	SLC30A9	OMIM:617595
HP:0032234	Increased circulating creatine kinase MM isoform	191	AHCY	OMIM:613752
HP:0006380	Knee flexion contracture	11160	ERLIN2	ORPHA:280384
HP:0006380	Knee flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0006380	Knee flexion contracture	4921	DDR2	OMIM:271665
HP:0006380	Knee flexion contracture	23141	ANKLE2	OMIM:616681
HP:0006380	Knee flexion contracture	8506	CNTNAP1	OMIM:616286
HP:0006380	Knee flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0006380	Knee flexion contracture	4010	LMX1B	ORPHA:2614
HP:0006380	Knee flexion contracture	1756	DMD	OMIM:310200
HP:0006380	Knee flexion contracture	5352	PLOD2	OMIM:609220
HP:0006380	Knee flexion contracture	1303	COL12A1	ORPHA:75840
HP:0006380	Knee flexion contracture	1303	COL12A1	ORPHA:536516
HP:0006380	Knee flexion contracture	1291	COL6A1	ORPHA:75840
HP:0006380	Knee flexion contracture	1292	COL6A2	ORPHA:75840
HP:0006380	Knee flexion contracture	1293	COL6A3	ORPHA:75840
HP:0006380	Knee flexion contracture	6840	SVIL	OMIM:619040
HP:0006380	Knee flexion contracture	91179	SCARF2	OMIM:600920
HP:0006380	Knee flexion contracture	3714	JAG2	OMIM:619566
HP:0006380	Knee flexion contracture	51506	UFC1	OMIM:618076
HP:0006380	Knee flexion contracture	4649	MYO9A	OMIM:618198
HP:0006380	Knee flexion contracture	6616	SNAP25	OMIM:616330
HP:0006380	Knee flexion contracture	2201	FBN2	OMIM:121050
HP:0006380	Knee flexion contracture	2067	ERCC1	OMIM:610758
HP:0006380	Knee flexion contracture	29925	GMPPB	ORPHA:353327
HP:0006380	Knee flexion contracture	2673	GFPT1	ORPHA:353327
HP:0006380	Knee flexion contracture	1798	DPAGT1	ORPHA:353327
HP:0006380	Knee flexion contracture	85365	ALG2	ORPHA:353327
HP:0006380	Knee flexion contracture	85365	ALG2	OMIM:616228
HP:0006380	Knee flexion contracture	199857	ALG14	ORPHA:353327
HP:0006380	Knee flexion contracture	79158	GNPTAB	ORPHA:576
HP:0006380	Knee flexion contracture	1146	CHRNG	OMIM:265000
HP:0006380	Knee flexion contracture	2273	FHL1	OMIM:300695
HP:0006380	Knee flexion contracture	2316	FLNA	OMIM:305620
HP:0006380	Knee flexion contracture	4621	MYH3	OMIM:193700
HP:0006380	Knee flexion contracture	4621	MYH3	OMIM:178110
HP:0006380	Knee flexion contracture	23321	TRIM2	OMIM:615490
HP:0006380	Knee flexion contracture	92255	LMBRD2	OMIM:619694
HP:0006380	Knee flexion contracture	23522	KAT6B	OMIM:606170
HP:0006380	Knee flexion contracture	23522	KAT6B	ORPHA:85201
HP:0006380	Knee flexion contracture	2010	EMD	OMIM:310300
HP:0006380	Knee flexion contracture	29968	PSAT1	ORPHA:284417
HP:0006380	Knee flexion contracture	57190	SELENON	ORPHA:2020
HP:0006380	Knee flexion contracture	58	ACTA1	ORPHA:2020
HP:0006380	Knee flexion contracture	4633	MYL2	ORPHA:2020
HP:0006380	Knee flexion contracture	3679	ITGA7	ORPHA:2020
HP:0006380	Knee flexion contracture	7169	TPM2	ORPHA:2020
HP:0006380	Knee flexion contracture	7169	TPM2	OMIM:108120
HP:0006380	Knee flexion contracture	9200	HACD1	ORPHA:2020
HP:0006380	Knee flexion contracture	7170	TPM3	ORPHA:2020
HP:0006380	Knee flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:619621
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:616531
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:619708
HP:0006380	Knee flexion contracture	3977	LIFR	OMIM:601559
HP:0006380	Knee flexion contracture	3977	LIFR	ORPHA:3206
HP:0006380	Knee flexion contracture	127833	SYT2	OMIM:619461
HP:0006380	Knee flexion contracture	5277	PIGA	OMIM:300868
HP:0006380	Knee flexion contracture	23327	NEDD4L	OMIM:617201
HP:0006380	Knee flexion contracture	1954	MEGF8	OMIM:614976
HP:0006380	Knee flexion contracture	2783	GNB2	OMIM:619503
HP:0006380	Knee flexion contracture	4632	MYL1	OMIM:618414
HP:0006380	Knee flexion contracture	3930	LBR	OMIM:618019
HP:0006380	Knee flexion contracture	79644	SRD5A3	OMIM:612713
HP:0006380	Knee flexion contracture	9531	BAG3	OMIM:612954
HP:0006380	Knee flexion contracture	2074	ERCC6	OMIM:214150
HP:0006380	Knee flexion contracture	9653	HS2ST1	OMIM:619194
HP:0006380	Knee flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0006380	Knee flexion contracture	59341	TRPV4	OMIM:600175
HP:0006380	Knee flexion contracture	10804	GJB6	ORPHA:477
HP:0006380	Knee flexion contracture	2706	GJB2	ORPHA:477
HP:0006380	Knee flexion contracture	2706	GJB2	OMIM:148210
HP:0006380	Knee flexion contracture	9791	PTDSS1	OMIM:151050
HP:0006380	Knee flexion contracture	63895	PIEZO2	OMIM:114300
HP:0006380	Knee flexion contracture	29895	MYL11	OMIM:619110
HP:0006380	Knee flexion contracture	9894	TELO2	ORPHA:488642
HP:0006380	Knee flexion contracture	259232	NALCN	ORPHA:371364
HP:0006380	Knee flexion contracture	259232	NALCN	OMIM:616266
HP:0006380	Knee flexion contracture	285175	UNC80	ORPHA:371364
HP:0006380	Knee flexion contracture	25914	RTTN	ORPHA:468631
HP:0006380	Knee flexion contracture	157570	ESCO2	ORPHA:3103
HP:0006380	Knee flexion contracture	157570	ESCO2	OMIM:268300
HP:0006380	Knee flexion contracture	84992	PIGY	OMIM:616809
HP:0006380	Knee flexion contracture	10613	ERLIN1	ORPHA:401785
HP:0006380	Knee flexion contracture	6134	RPL10	ORPHA:435938
HP:0006380	Knee flexion contracture	26137	ZBTB20	OMIM:259050
HP:0006380	Knee flexion contracture	22978	NT5C2	ORPHA:320396
HP:0006380	Knee flexion contracture	2222	FDFT1	OMIM:618156
HP:0006380	Knee flexion contracture	83636	C19orf12	OMIM:615043
HP:0006380	Knee flexion contracture	163175	LGI4	OMIM:617468
HP:0006380	Knee flexion contracture	60681	FKBP10	OMIM:259450
HP:0006380	Knee flexion contracture	4773	NFATC2	OMIM:620232
HP:0006380	Knee flexion contracture	1376	CPT2	OMIM:608836
HP:0006380	Knee flexion contracture	5296	PIK3R2	OMIM:603387
HP:0006380	Knee flexion contracture	23387	SIK3	OMIM:618162
HP:0006380	Knee flexion contracture	23299	BICD2	OMIM:615290
HP:0006380	Knee flexion contracture	8813	DPM1	OMIM:608799
HP:0006380	Knee flexion contracture	8813	DPM1	ORPHA:79322
HP:0006380	Knee flexion contracture	5745	PTH1R	OMIM:156400
HP:0006380	Knee flexion contracture	339855	KY	ORPHA:496689
HP:0006380	Knee flexion contracture	6572	SLC18A3	OMIM:617239
HP:0006380	Knee flexion contracture	6389	SDHA	ORPHA:3208
HP:0006380	Knee flexion contracture	6390	SDHB	ORPHA:3208
HP:0006380	Knee flexion contracture	6392	SDHD	ORPHA:3208
HP:0006380	Knee flexion contracture	644096	SDHAF1	ORPHA:3208
HP:0006380	Knee flexion contracture	7317	UBA1	ORPHA:1145
HP:0006380	Knee flexion contracture	55681	SCYL2	ORPHA:1143
HP:0006380	Knee flexion contracture	84570	COL25A1	ORPHA:1143
HP:0006380	Knee flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0006380	Knee flexion contracture	1073	CFL2	OMIM:610687
HP:0006380	Knee flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0006380	Knee flexion contracture	2200	FBN1	OMIM:184900
HP:0006380	Knee flexion contracture	91137	SLC25A46	OMIM:619303
HP:0006380	Knee flexion contracture	1140	CHRNB1	OMIM:616313
HP:0006380	Knee flexion contracture	529	ATP6V1E1	OMIM:617402
HP:0006380	Knee flexion contracture	8449	DHX16	OMIM:618733
HP:0006380	Knee flexion contracture	2737	GLI3	ORPHA:93322
HP:0006381	Rudimentary fibula	2316	FLNA	OMIM:304120
HP:0006381	Rudimentary fibula	6473	SHOX	OMIM:249700
HP:0006383	Progressive bowing of long bones	2316	FLNA	ORPHA:1826
HP:0006383	Progressive bowing of long bones	6885	MAP3K7	ORPHA:1826
HP:0006383	Progressive bowing of long bones	4322	MMP13	OMIM:250400
HP:0006383	Progressive bowing of long bones	4322	MMP13	ORPHA:2501
HP:0006384	Club-shaped distal femur	2317	FLNB	ORPHA:56305
HP:0006384	Club-shaped distal femur	2697	GJA1	OMIM:218400
HP:0006384	Club-shaped distal femur	56172	ANKH	OMIM:123000
HP:0006385	Short lower limbs	2131	EXT1	ORPHA:321
HP:0006385	Short lower limbs	2132	EXT2	ORPHA:321
HP:0006385	Short lower limbs	9241	NOG	OMIM:186500
HP:0006385	Short lower limbs	1836	SLC26A2	ORPHA:56304
HP:0006385	Short lower limbs	249	ALPL	OMIM:241500
HP:0006385	Short lower limbs	2335	FN1	ORPHA:93315
HP:0006385	Short lower limbs	1280	COL2A1	ORPHA:93315
HP:0006385	Short lower limbs	23394	ADNP	OMIM:615873
HP:0006385	Short lower limbs	5479	PPIB	OMIM:259440
HP:0006385	Short lower limbs	4322	MMP13	OMIM:250400
HP:0006385	Short lower limbs	4322	MMP13	ORPHA:93356
HP:0006385	Short lower limbs	4322	MMP13	ORPHA:2501
HP:0006385	Short lower limbs	3911	LAMA5	OMIM:620076
HP:0006385	Short lower limbs	2767	GNA11	ORPHA:1556
HP:0006385	Short lower limbs	151188	ARL6IP6	ORPHA:1556
HP:0006386	Hypoplastic distal radial epiphyses	64135	IFIH1	OMIM:182250
HP:0006387	Wide distal femoral metaphysis	51025	PAM16	OMIM:613320
HP:0006387	Wide distal femoral metaphysis	2146	EZH2	OMIM:277590
HP:0006387	Wide distal femoral metaphysis	649	BMP1	OMIM:614856
HP:0006387	Wide distal femoral metaphysis	26040	SETBP1	OMIM:269150
HP:0003022	Hypoplasia of the ulna	1280	COL2A1	OMIM:271700
HP:0003022	Hypoplasia of the ulna	1280	COL2A1	ORPHA:1856
HP:0003022	Hypoplasia of the ulna	5573	PRKAR1A	ORPHA:950
HP:0003022	Hypoplasia of the ulna	5144	PDE4D	ORPHA:950
HP:0003022	Hypoplasia of the ulna	8200	GDF5	OMIM:200700
HP:0003022	Hypoplasia of the ulna	8200	GDF5	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	8200	GDF5	OMIM:201250
HP:0003022	Hypoplasia of the ulna	79659	DYNC2H1	OMIM:613091
HP:0003022	Hypoplasia of the ulna	51604	PIGT	OMIM:615398
HP:0003022	Hypoplasia of the ulna	57167	SALL4	OMIM:147750
HP:0003022	Hypoplasia of the ulna	57167	SALL4	OMIM:607323
HP:0003022	Hypoplasia of the ulna	57167	SALL4	ORPHA:959
HP:0003022	Hypoplasia of the ulna	2263	FGFR2	OMIM:149730
HP:0003022	Hypoplasia of the ulna	9820	CUL7	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	23363	OBSL1	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	83987	CCDC8	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	6154	RPL26	OMIM:614900
HP:0003022	Hypoplasia of the ulna	6473	SHOX	OMIM:127300
HP:0003022	Hypoplasia of the ulna	6473	SHOX	OMIM:249700
HP:0003022	Hypoplasia of the ulna	6473	SHOX	ORPHA:240
HP:0003022	Hypoplasia of the ulna	145258	GSC	OMIM:602471
HP:0003022	Hypoplasia of the ulna	23233	EXOC6B	OMIM:618395
HP:0003022	Hypoplasia of the ulna	1723	DHODH	OMIM:263750
HP:0003022	Hypoplasia of the ulna	1723	DHODH	ORPHA:246
HP:0003022	Hypoplasia of the ulna	182	JAG1	OMIM:118450
HP:0003022	Hypoplasia of the ulna	4038	LRP4	ORPHA:3258
HP:0003022	Hypoplasia of the ulna	4038	LRP4	OMIM:212780
HP:0003022	Hypoplasia of the ulna	324	APC	ORPHA:3258
HP:0003022	Hypoplasia of the ulna	3549	IHH	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	3549	IHH	OMIM:607778
HP:0003022	Hypoplasia of the ulna	658	BMPR1B	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	658	BMPR1B	OMIM:609441
HP:0003022	Hypoplasia of the ulna	57020	VPS35L	OMIM:619135
HP:0003022	Hypoplasia of the ulna	9469	CHST3	OMIM:143095
HP:0003022	Hypoplasia of the ulna	672	BRCA1	ORPHA:84
HP:0003022	Hypoplasia of the ulna	10459	MAD2L2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	7516	XRCC2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	29089	UBE2T	ORPHA:84
HP:0003022	Hypoplasia of the ulna	675	BRCA2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55120	FANCL	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2177	FANCD2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2175	FANCA	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2187	FANCB	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2176	FANCC	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2178	FANCE	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2188	FANCF	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2189	FANCG	ORPHA:84
HP:0003022	Hypoplasia of the ulna	5888	RAD51	ORPHA:84
HP:0003022	Hypoplasia of the ulna	5889	RAD51C	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55159	RFWD3	ORPHA:84
HP:0003022	Hypoplasia of the ulna	83990	BRIP1	ORPHA:84
HP:0003022	Hypoplasia of the ulna	57697	FANCM	ORPHA:84
HP:0003022	Hypoplasia of the ulna	79728	PALB2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	84464	SLX4	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2072	ERCC4	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55215	FANCI	ORPHA:84
HP:0003022	Hypoplasia of the ulna	9939	RBM8A	OMIM:274000
HP:0003022	Hypoplasia of the ulna	9241	NOG	OMIM:186500
HP:0003022	Hypoplasia of the ulna	157570	ESCO2	OMIM:268300
HP:0003022	Hypoplasia of the ulna	6910	TBX5	OMIM:142900
HP:0003022	Hypoplasia of the ulna	9401	RECQL4	OMIM:218600
HP:0003022	Hypoplasia of the ulna	6926	TBX3	OMIM:181450
HP:0003022	Hypoplasia of the ulna	567	B2M	OMIM:241600
HP:0003022	Hypoplasia of the ulna	55636	CHD7	OMIM:214800
HP:0003022	Hypoplasia of the ulna	91179	SCARF2	OMIM:600920
HP:0003022	Hypoplasia of the ulna	4920	ROR2	OMIM:268310
HP:0006389	Limited knee flexion	7415	VCP	ORPHA:435387
HP:0006389	Limited knee flexion	10082	GPC6	OMIM:258315
HP:0006389	Limited knee flexion	2318	FLNC	ORPHA:63273
HP:0006389	Limited knee flexion	2316	FLNA	OMIM:311300
HP:0006389	Limited knee flexion	9427	ECEL1	OMIM:615065
HP:0032241	Cervical neoplasm	6736	SRY	ORPHA:1772
HP:0032241	Cervical neoplasm	6794	STK11	ORPHA:2869
HP:0032241	Cervical neoplasm	7852	CXCR4	ORPHA:51636
HP:0032241	Cervical neoplasm	2261	FGFR3	OMIM:603956
HP:0032241	Cervical neoplasm	1027	CDKN1B	ORPHA:276152
HP:0032241	Cervical neoplasm	2624	GATA2	OMIM:614172
HP:0032242	Cervical intraepithelial neoplasia	2624	GATA2	OMIM:614172
HP:0032243	Abnormal tissue metabolite concentration	10159	ATP6AP2	OMIM:301045
HP:0032243	Abnormal tissue metabolite concentration	3376	IARS1	OMIM:617093
HP:0032243	Abnormal tissue metabolite concentration	3376	IARS1	ORPHA:541423
HP:0032243	Abnormal tissue metabolite concentration	286053	NSMCE2	OMIM:617253
HP:0032243	Abnormal tissue metabolite concentration	286053	NSMCE2	ORPHA:436182
HP:0032243	Abnormal tissue metabolite concentration	30061	SLC40A1	ORPHA:139491
HP:0032243	Abnormal tissue metabolite concentration	30061	SLC40A1	OMIM:606069
HP:0032243	Abnormal tissue metabolite concentration	229	ALDOB	OMIM:229600
HP:0032243	Abnormal tissue metabolite concentration	3033	HADH	OMIM:231530
HP:0032243	Abnormal tissue metabolite concentration	3033	HADH	ORPHA:71212
HP:0032243	Abnormal tissue metabolite concentration	11020	IFT27	OMIM:615996
HP:0032243	Abnormal tissue metabolite concentration	132	ADK	OMIM:614300
HP:0032243	Abnormal tissue metabolite concentration	60684	TRAPPC11	OMIM:615356
HP:0032243	Abnormal tissue metabolite concentration	60684	TRAPPC11	ORPHA:369840
HP:0032243	Abnormal tissue metabolite concentration	1355	COX15	OMIM:615119
HP:0032243	Abnormal tissue metabolite concentration	63924	CIDEC	OMIM:615238
HP:0032243	Abnormal tissue metabolite concentration	63924	CIDEC	ORPHA:435651
HP:0032243	Abnormal tissue metabolite concentration	857	CAV1	OMIM:612526
HP:0032243	Abnormal tissue metabolite concentration	857	CAV1	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	81570	CLPB	ORPHA:445038
HP:0032243	Abnormal tissue metabolite concentration	81570	CLPB	OMIM:616271
HP:0032243	Abnormal tissue metabolite concentration	51099	ABHD5	OMIM:275630
HP:0032243	Abnormal tissue metabolite concentration	51099	ABHD5	ORPHA:98907
HP:0032243	Abnormal tissue metabolite concentration	6718	AKR1D1	ORPHA:79303
HP:0032243	Abnormal tissue metabolite concentration	80222	TARS2	OMIM:615918
HP:0032243	Abnormal tissue metabolite concentration	26580	BSCL2	ORPHA:363400
HP:0032243	Abnormal tissue metabolite concentration	26580	BSCL2	OMIM:269700
HP:0032243	Abnormal tissue metabolite concentration	26580	BSCL2	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	6341	SCO1	OMIM:619048
HP:0032243	Abnormal tissue metabolite concentration	4141	MARS1	OMIM:615486
HP:0032243	Abnormal tissue metabolite concentration	8882	ZPR1	OMIM:619321
HP:0032243	Abnormal tissue metabolite concentration	348	APOE	ORPHA:412
HP:0032243	Abnormal tissue metabolite concentration	10165	SLC25A13	OMIM:603471
HP:0032243	Abnormal tissue metabolite concentration	10165	SLC25A13	ORPHA:247598
HP:0032243	Abnormal tissue metabolite concentration	10165	SLC25A13	ORPHA:247585
HP:0032243	Abnormal tissue metabolite concentration	2542	SLC37A4	ORPHA:79259
HP:0032243	Abnormal tissue metabolite concentration	2542	SLC37A4	OMIM:619525
HP:0032243	Abnormal tissue metabolite concentration	3949	LDLR	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	255738	PCSK9	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	26119	LDLRAP1	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	338	APOB	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	64240	ABCG5	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	64241	ABCG8	ORPHA:391665
HP:0032243	Abnormal tissue metabolite concentration	60561	RINT1	OMIM:618641
HP:0032243	Abnormal tissue metabolite concentration	4358	MPV17	OMIM:618400
HP:0032243	Abnormal tissue metabolite concentration	4358	MPV17	OMIM:256810
HP:0032243	Abnormal tissue metabolite concentration	537	ATP6AP1	OMIM:300972
HP:0032243	Abnormal tissue metabolite concentration	34	ACADM	OMIM:201450
HP:0032243	Abnormal tissue metabolite concentration	34	ACADM	ORPHA:42
HP:0032243	Abnormal tissue metabolite concentration	5105	PCK1	OMIM:261680
HP:0032243	Abnormal tissue metabolite concentration	50619	DEF6	OMIM:619573
HP:0032243	Abnormal tissue metabolite concentration	3988	LIPA	OMIM:278000
HP:0032243	Abnormal tissue metabolite concentration	26007	TKFC	OMIM:618805
HP:0032243	Abnormal tissue metabolite concentration	5468	PPARG	ORPHA:79083
HP:0032243	Abnormal tissue metabolite concentration	5468	PPARG	OMIM:604367
HP:0032243	Abnormal tissue metabolite concentration	5468	PPARG	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	4000	LMNA	ORPHA:79084
HP:0032243	Abnormal tissue metabolite concentration	4000	LMNA	OMIM:151660
HP:0032243	Abnormal tissue metabolite concentration	4000	LMNA	ORPHA:79474
HP:0032243	Abnormal tissue metabolite concentration	4000	LMNA	ORPHA:280365
HP:0032243	Abnormal tissue metabolite concentration	4000	LMNA	ORPHA:2348
HP:0032243	Abnormal tissue metabolite concentration	208	AKT2	ORPHA:79085
HP:0032243	Abnormal tissue metabolite concentration	5346	PLIN1	OMIM:613877
HP:0032243	Abnormal tissue metabolite concentration	5346	PLIN1	ORPHA:280356
HP:0032243	Abnormal tissue metabolite concentration	84823	LMNB2	ORPHA:79087
HP:0032243	Abnormal tissue metabolite concentration	84823	LMNB2	OMIM:608709
HP:0032243	Abnormal tissue metabolite concentration	7840	ALMS1	OMIM:203800
HP:0032243	Abnormal tissue metabolite concentration	7840	ALMS1	ORPHA:64
HP:0032243	Abnormal tissue metabolite concentration	1581	CYP7A1	ORPHA:209902
HP:0032243	Abnormal tissue metabolite concentration	1716	DGUOK	OMIM:251880
HP:0032243	Abnormal tissue metabolite concentration	10555	AGPAT2	OMIM:608594
HP:0032243	Abnormal tissue metabolite concentration	10555	AGPAT2	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	1717	DHCR7	OMIM:270400
HP:0032243	Abnormal tissue metabolite concentration	4547	MTTP	ORPHA:14
HP:0032243	Abnormal tissue metabolite concentration	6899	TBX1	OMIM:188400
HP:0032243	Abnormal tissue metabolite concentration	5424	POLD1	OMIM:615381
HP:0032243	Abnormal tissue metabolite concentration	8802	SUCLG1	ORPHA:17
HP:0032243	Abnormal tissue metabolite concentration	84984	CEP19	OMIM:615703
HP:0032243	Abnormal tissue metabolite concentration	2783	GNB2	OMIM:619503
HP:0032243	Abnormal tissue metabolite concentration	28976	ACAD9	ORPHA:99901
HP:0032243	Abnormal tissue metabolite concentration	5373	PMM2	OMIM:212065
HP:0032243	Abnormal tissue metabolite concentration	1588	CYP19A1	ORPHA:91
HP:0032243	Abnormal tissue metabolite concentration	37	ACADVL	OMIM:201475
HP:0032243	Abnormal tissue metabolite concentration	54914	FOCAD	OMIM:619991
HP:0032243	Abnormal tissue metabolite concentration	11222	MRPL3	OMIM:614582
HP:0032243	Abnormal tissue metabolite concentration	6711	SPTBN1	OMIM:619475
HP:0032243	Abnormal tissue metabolite concentration	3991	LIPE	ORPHA:435660
HP:0032243	Abnormal tissue metabolite concentration	3991	LIPE	OMIM:615980
HP:0032243	Abnormal tissue metabolite concentration	5566	PRKACA	ORPHA:189439
HP:0032243	Abnormal tissue metabolite concentration	8622	PDE8B	ORPHA:189439
HP:0032243	Abnormal tissue metabolite concentration	5573	PRKAR1A	ORPHA:189439
HP:0032243	Abnormal tissue metabolite concentration	50940	PDE11A	ORPHA:189439
HP:0032243	Abnormal tissue metabolite concentration	51520	LARS1	OMIM:615438
HP:0032243	Abnormal tissue metabolite concentration	788	SLC25A20	OMIM:212138
HP:0032243	Abnormal tissue metabolite concentration	540	ATP7B	ORPHA:905
HP:0032243	Abnormal tissue metabolite concentration	540	ATP7B	OMIM:277900
HP:0032243	Abnormal tissue metabolite concentration	5590	PRKCZ	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	2563	GABRD	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	23013	SPEN	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	8510	MMP23B	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	7798	LUZP1	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	6497	SKI	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	10630	PDPN	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	3339	HSPG2	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	10277	UBE4B	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	8514	KCNAB2	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	473	RERE	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	63976	PRDM16	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	54897	CASZ1	ORPHA:1606
HP:0032243	Abnormal tissue metabolite concentration	10056	FARSB	OMIM:613658
HP:0032243	Abnormal tissue metabolite concentration	6928	HNF1B	ORPHA:93111
HP:0032243	Abnormal tissue metabolite concentration	10128	LRPPRC	ORPHA:70472
HP:0032243	Abnormal tissue metabolite concentration	2203	FBP1	ORPHA:348
HP:0032243	Abnormal tissue metabolite concentration	100147744	RNU7-1	OMIM:619487
HP:0032243	Abnormal tissue metabolite concentration	5106	PCK2	OMIM:261650
HP:0032243	Abnormal tissue metabolite concentration	79798	ARMC5	ORPHA:189427
HP:0032243	Abnormal tissue metabolite concentration	2778	GNAS	ORPHA:189427
HP:0032243	Abnormal tissue metabolite concentration	641	BLM	OMIM:210900
HP:0032243	Abnormal tissue metabolite concentration	64135	IFIH1	OMIM:615846
HP:0032243	Abnormal tissue metabolite concentration	7518	XRCC4	ORPHA:436182
HP:0032243	Abnormal tissue metabolite concentration	51128	SAR1B	ORPHA:71
HP:0032243	Abnormal tissue metabolite concentration	11128	POLR3A	ORPHA:3455
HP:0032243	Abnormal tissue metabolite concentration	617	BCS1L	OMIM:124000
HP:0032243	Abnormal tissue metabolite concentration	617	BCS1L	ORPHA:53693
HP:0032243	Abnormal tissue metabolite concentration	3178	HNRNPA1	ORPHA:52430
HP:0032243	Abnormal tissue metabolite concentration	7415	VCP	ORPHA:52430
HP:0032243	Abnormal tissue metabolite concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0032243	Abnormal tissue metabolite concentration	57104	PNPLA2	OMIM:610717
HP:0032243	Abnormal tissue metabolite concentration	57104	PNPLA2	ORPHA:98908
HP:0032243	Abnormal tissue metabolite concentration	1650	DDOST	ORPHA:300536
HP:0032243	Abnormal tissue metabolite concentration	51651	PTRH2	OMIM:616263
HP:0032243	Abnormal tissue metabolite concentration	2819	GPD1	OMIM:614480
HP:0032243	Abnormal tissue metabolite concentration	51081	MRPS7	OMIM:617872
HP:0032243	Abnormal tissue metabolite concentration	2193	FARSA	OMIM:619013
HP:0032243	Abnormal tissue metabolite concentration	8565	YARS1	OMIM:619418
HP:0032243	Abnormal tissue metabolite concentration	1374	CPT1A	OMIM:255120
HP:0032243	Abnormal tissue metabolite concentration	5236	PGM1	OMIM:614921
HP:0032243	Abnormal tissue metabolite concentration	55005	RMND1	OMIM:614922
HP:0032243	Abnormal tissue metabolite concentration	3295	HSD17B4	OMIM:261515
HP:0032243	Abnormal tissue metabolite concentration	9757	KMT2B	OMIM:619934
HP:0032243	Abnormal tissue metabolite concentration	147007	TMEM199	OMIM:616829
HP:0032243	Abnormal tissue metabolite concentration	875	CBS	OMIM:236200
HP:0032243	Abnormal tissue metabolite concentration	1376	CPT2	ORPHA:228305
HP:0032243	Abnormal tissue metabolite concentration	1376	CPT2	ORPHA:228308
HP:0032243	Abnormal tissue metabolite concentration	284119	CAVIN1	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	284119	CAVIN1	OMIM:613327
HP:0032243	Abnormal tissue metabolite concentration	2353	FOS	ORPHA:528
HP:0032243	Abnormal tissue metabolite concentration	8813	DPM1	ORPHA:79322
HP:0032243	Abnormal tissue metabolite concentration	9054	NFS1	OMIM:619386
HP:0032243	Abnormal tissue metabolite concentration	5256	PHKA2	ORPHA:264580
HP:0032243	Abnormal tissue metabolite concentration	5261	PHKG2	ORPHA:264580
HP:0032243	Abnormal tissue metabolite concentration	35	ACADS	ORPHA:26792
HP:0032243	Abnormal tissue metabolite concentration	2108	ETFA	OMIM:231680
HP:0032243	Abnormal tissue metabolite concentration	2109	ETFB	OMIM:231680
HP:0032243	Abnormal tissue metabolite concentration	2110	ETFDH	OMIM:231680
HP:0032243	Abnormal tissue metabolite concentration	5428	POLG	ORPHA:298
HP:0032243	Abnormal tissue metabolite concentration	1890	TYMP	ORPHA:298
HP:0032243	Abnormal tissue metabolite concentration	3980	LIG3	ORPHA:298
HP:0032243	Abnormal tissue metabolite concentration	50484	RRM2B	ORPHA:298
HP:0032243	Abnormal tissue metabolite concentration	55687	TRMU	OMIM:613070
HP:0032243	Abnormal tissue metabolite concentration	51103	NDUFAF1	OMIM:618234
HP:0032243	Abnormal tissue metabolite concentration	10651	MTX2	OMIM:619127
HP:0032243	Abnormal tissue metabolite concentration	57128	LYRM4	OMIM:615595
HP:0032243	Abnormal tissue metabolite concentration	8260	NAA10	OMIM:300855
HP:0032243	Abnormal tissue metabolite concentration	125988	MICOS13	OMIM:618329
HP:0032243	Abnormal tissue metabolite concentration	65082	VPS33A	OMIM:617303
HP:0032243	Abnormal tissue metabolite concentration	1794	DOCK2	OMIM:616433
HP:0032243	Abnormal tissue metabolite concentration	124454	EARS2	OMIM:614924
HP:0032243	Abnormal tissue metabolite concentration	27183	VPS4A	OMIM:619273
HP:0032243	Abnormal tissue metabolite concentration	55898	UNC45A	OMIM:619377
HP:0032243	Abnormal tissue metabolite concentration	374354	NHLRC2	OMIM:618278
HP:0032243	Abnormal tissue metabolite concentration	65080	MRPL44	OMIM:615395
HP:0032243	Abnormal tissue metabolite concentration	79587	CARS2	OMIM:616672
HP:0032243	Abnormal tissue metabolite concentration	7019	TFAM	OMIM:617156
HP:0032243	Abnormal tissue metabolite concentration	11232	POLG2	OMIM:618528
HP:0032243	Abnormal tissue metabolite concentration	131118	DNAJC19	OMIM:610198
HP:0032243	Abnormal tissue metabolite concentration	131118	DNAJC19	ORPHA:66634
HP:0032243	Abnormal tissue metabolite concentration	55768	NGLY1	ORPHA:404454
HP:0032243	Abnormal tissue metabolite concentration	3073	HEXA	OMIM:272800
HP:0032243	Abnormal tissue metabolite concentration	2760	GM2A	OMIM:272750
HP:0032243	Abnormal tissue metabolite concentration	410	ARSA	ORPHA:309271
HP:0032243	Abnormal tissue metabolite concentration	410	ARSA	ORPHA:309263
HP:0032243	Abnormal tissue metabolite concentration	5660	PSAP	ORPHA:309271
HP:0032243	Abnormal tissue metabolite concentration	5660	PSAP	OMIM:611721
HP:0032243	Abnormal tissue metabolite concentration	5660	PSAP	ORPHA:309263
HP:0032243	Abnormal tissue metabolite concentration	3074	HEXB	OMIM:268800
HP:0032243	Abnormal tissue metabolite concentration	57192	MCOLN1	ORPHA:578
HP:0032243	Abnormal tissue metabolite concentration	57192	MCOLN1	OMIM:252650
HP:0032243	Abnormal tissue metabolite concentration	51	ACOX1	OMIM:264470
HP:0032243	Abnormal tissue metabolite concentration	84334	COA8	ORPHA:436271
HP:0032243	Abnormal tissue metabolite concentration	3032	HADHB	ORPHA:746
HP:0032243	Abnormal tissue metabolite concentration	3030	HADHA	ORPHA:746
HP:0032243	Abnormal tissue metabolite concentration	3155	HMGCL	ORPHA:20
HP:0032243	Abnormal tissue metabolite concentration	3172	HNF4A	ORPHA:263455
HP:0032243	Abnormal tissue metabolite concentration	5836	PYGL	OMIM:232700
HP:0032243	Abnormal tissue metabolite concentration	5836	PYGL	ORPHA:369
HP:0032243	Abnormal tissue metabolite concentration	56922	MCCC1	OMIM:210200
HP:0032243	Abnormal tissue metabolite concentration	55670	PEX26	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	55670	PEX26	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5824	PEX19	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5824	PEX19	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5828	PEX2	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5828	PEX2	OMIM:614867
HP:0032243	Abnormal tissue metabolite concentration	5828	PEX2	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	8504	PEX3	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	8504	PEX3	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	9409	PEX16	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	9409	PEX16	OMIM:614877
HP:0032243	Abnormal tissue metabolite concentration	9409	PEX16	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5190	PEX6	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5190	PEX6	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	8799	PEX11B	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	8799	PEX11B	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5830	PEX5	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5830	PEX5	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5189	PEX1	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5189	PEX1	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5193	PEX12	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5193	PEX12	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5193	PEX12	OMIM:266510
HP:0032243	Abnormal tissue metabolite concentration	5194	PEX13	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5194	PEX13	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5195	PEX14	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5195	PEX14	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5192	PEX10	ORPHA:772
HP:0032243	Abnormal tissue metabolite concentration	5192	PEX10	ORPHA:912
HP:0032243	Abnormal tissue metabolite concentration	5192	PEX10	ORPHA:247815
HP:0032243	Abnormal tissue metabolite concentration	91452	ACBD5	OMIM:618863
HP:0032243	Abnormal tissue metabolite concentration	215	ABCD1	ORPHA:139399
HP:0032243	Abnormal tissue metabolite concentration	215	ABCD1	ORPHA:139396
HP:0032243	Abnormal tissue metabolite concentration	2548	GAA	OMIM:232300
HP:0032243	Abnormal tissue metabolite concentration	5213	PFKM	OMIM:232800
HP:0032243	Abnormal tissue metabolite concentration	5213	PFKM	ORPHA:371
HP:0032243	Abnormal tissue metabolite concentration	5257	PHKB	OMIM:261750
HP:0032243	Abnormal tissue metabolite concentration	4556	MT-TE	ORPHA:254864
HP:0032243	Abnormal tissue metabolite concentration	55154	MSTO1	ORPHA:502423
HP:0032243	Abnormal tissue metabolite concentration	2027	ENO3	OMIM:612932
HP:0032243	Abnormal tissue metabolite concentration	57190	SELENON	ORPHA:324604
HP:0032243	Abnormal tissue metabolite concentration	4625	MYH7	ORPHA:324604
HP:0032243	Abnormal tissue metabolite concentration	7273	TTN	ORPHA:324604
HP:0032243	Abnormal tissue metabolite concentration	7273	TTN	ORPHA:609
HP:0032243	Abnormal tissue metabolite concentration	84665	MYPN	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	58	ACTA1	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	7169	TPM2	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	390594	KBTBD13	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	4703	NEB	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	10324	KLHL41	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	7170	TPM3	ORPHA:171439
HP:0032243	Abnormal tissue metabolite concentration	1303	COL12A1	ORPHA:610
HP:0032243	Abnormal tissue metabolite concentration	1291	COL6A1	ORPHA:610
HP:0032243	Abnormal tissue metabolite concentration	1292	COL6A2	ORPHA:610
HP:0032243	Abnormal tissue metabolite concentration	1293	COL6A3	ORPHA:610
HP:0032243	Abnormal tissue metabolite concentration	84570	COL25A1	ORPHA:91411
HP:0032243	Abnormal tissue metabolite concentration	79776	ZFHX4	ORPHA:91411
HP:0032243	Abnormal tissue metabolite concentration	3795	KHK	ORPHA:2056
HP:0032243	Abnormal tissue metabolite concentration	23175	LPIN1	ORPHA:99845
HP:0032243	Abnormal tissue metabolite concentration	4512	MT-CO1	ORPHA:99845
HP:0032243	Abnormal tissue metabolite concentration	4514	MT-CO3	ORPHA:99845
HP:0032243	Abnormal tissue metabolite concentration	1339	COX6A2	OMIM:619062
HP:0032243	Abnormal tissue metabolite concentration	6329	SCN4A	ORPHA:681
HP:0032243	Abnormal tissue metabolite concentration	779	CACNA1S	ORPHA:681
HP:0032243	Abnormal tissue metabolite concentration	779	CACNA1S	ORPHA:79102
HP:0032243	Abnormal tissue metabolite concentration	10008	KCNE3	ORPHA:681
HP:0032243	Abnormal tissue metabolite concentration	4697	NDUFA4	OMIM:619065
HP:0032243	Abnormal tissue metabolite concentration	4574	MT-TS1	OMIM:220110
HP:0032243	Abnormal tissue metabolite concentration	4570	MT-TN	OMIM:220110
HP:0032243	Abnormal tissue metabolite concentration	6834	SURF1	OMIM:220110
HP:0032243	Abnormal tissue metabolite concentration	4285	MIPEP	OMIM:617228
HP:0032243	Abnormal tissue metabolite concentration	4724	NDUFS4	OMIM:252010
HP:0032243	Abnormal tissue metabolite concentration	10939	AFG3L2	OMIM:614487
HP:0032243	Abnormal tissue metabolite concentration	400916	CHCHD10	ORPHA:457050
HP:0032243	Abnormal tissue metabolite concentration	100134444	KCNJ18	ORPHA:79102
HP:0032243	Abnormal tissue metabolite concentration	2556	GABRA3	ORPHA:79102
HP:0032243	Abnormal tissue metabolite concentration	23479	ISCU	OMIM:255125
HP:0032243	Abnormal tissue metabolite concentration	6389	SDHA	OMIM:252011
HP:0032243	Abnormal tissue metabolite concentration	2997	GYS1	OMIM:611556
HP:0032243	Abnormal tissue metabolite concentration	2992	GYG1	ORPHA:263297
HP:0032243	Abnormal tissue metabolite concentration	3043	HBB	ORPHA:231222
HP:0032243	Abnormal tissue metabolite concentration	55240	STEAP3	ORPHA:300298
HP:0032243	Abnormal tissue metabolite concentration	55240	STEAP3	OMIM:615234
HP:0032243	Abnormal tissue metabolite concentration	2512	FTL	ORPHA:254704
HP:0032243	Abnormal tissue metabolite concentration	51218	GLRX5	OMIM:616860
HP:0032243	Abnormal tissue metabolite concentration	5277	PIGA	OMIM:300868
HP:0032243	Abnormal tissue metabolite concentration	4891	SLC11A2	OMIM:206100
HP:0032243	Abnormal tissue metabolite concentration	1356	CP	ORPHA:48818
HP:0032243	Abnormal tissue metabolite concentration	2495	FTH1	OMIM:615517
HP:0032243	Abnormal tissue metabolite concentration	654	BMP6	OMIM:620121
HP:0032243	Abnormal tissue metabolite concentration	123264	SLC51B	OMIM:619481
HP:0032243	Abnormal tissue metabolite concentration	84317	CCDC115	OMIM:616828
HP:0032243	Abnormal tissue metabolite concentration	10667	FARS2	OMIM:614946
HP:0032243	Abnormal tissue metabolite concentration	55532	SLC30A10	ORPHA:309854
HP:0032243	Abnormal tissue metabolite concentration	5837	PYGM	ORPHA:368
HP:0032243	Abnormal tissue metabolite concentration	5255	PHKA1	OMIM:300559
HP:0032243	Abnormal tissue metabolite concentration	6584	SLC22A5	OMIM:212140
HP:0032243	Abnormal tissue metabolite concentration	28234	SLCO1B3	ORPHA:3111
HP:0032243	Abnormal tissue metabolite concentration	10599	SLCO1B1	ORPHA:3111
HP:0032243	Abnormal tissue metabolite concentration	2717	GLA	OMIM:301500
HP:0032243	Abnormal tissue metabolite concentration	57017	COQ9	OMIM:614654
HP:0032243	Abnormal tissue metabolite concentration	57107	PDSS2	OMIM:614652
HP:0032243	Abnormal tissue metabolite concentration	56997	COQ8A	OMIM:612016
HP:0032243	Abnormal tissue metabolite concentration	27235	COQ2	OMIM:607426
HP:0032243	Abnormal tissue metabolite concentration	6514	SLC2A2	ORPHA:2088
HP:0032244	Decreased serum thromboxane B2	5321	PLA2G4A	OMIM:618372
HP:0032245	Abnormal metabolism	4552	MTRR	OMIM:236270
HP:0032245	Abnormal metabolism	197322	ACSF3	ORPHA:289504
HP:0032245	Abnormal metabolism	8802	SUCLG1	ORPHA:17
HP:0032245	Abnormal metabolism	8803	SUCLA2	OMIM:612073
HP:0032245	Abnormal metabolism	25974	MMACHC	ORPHA:79282
HP:0032245	Abnormal metabolism	25974	MMACHC	OMIM:277400
HP:0032245	Abnormal metabolism	3054	HCFC1	OMIM:309541
HP:0032245	Abnormal metabolism	4329	ALDH6A1	OMIM:614105
HP:0032245	Abnormal metabolism	51293	CD320	OMIM:613646
HP:0032245	Abnormal metabolism	5826	ABCD4	OMIM:614857
HP:0032245	Abnormal metabolism	4548	MTR	OMIM:250940
HP:0032245	Abnormal metabolism	27249	MMADHC	OMIM:277410
HP:0032245	Abnormal metabolism	326625	MMAB	OMIM:251110
HP:0032245	Abnormal metabolism	4594	MMUT	OMIM:251000
HP:0032245	Abnormal metabolism	5052	PRDX1	OMIM:277400
HP:0032245	Abnormal metabolism	166785	MMAA	OMIM:251100
HP:0032245	Abnormal metabolism	283209	PGM2L1	OMIM:620191
HP:0032245	Abnormal metabolism	23545	ATP6V0A2	ORPHA:357074
HP:0032245	Abnormal metabolism	23545	ATP6V0A2	ORPHA:2834
HP:0032245	Abnormal metabolism	23545	ATP6V0A2	OMIM:278250
HP:0032245	Abnormal metabolism	23545	ATP6V0A2	OMIM:219200
HP:0032245	Abnormal metabolism	523	ATP6V1A	ORPHA:357074
HP:0032245	Abnormal metabolism	529	ATP6V1E1	ORPHA:357074
HP:0032245	Abnormal metabolism	5236	PGM1	OMIM:614921
HP:0032245	Abnormal metabolism	92344	GORAB	OMIM:231070
HP:0032245	Abnormal metabolism	4522	MTHFD1	OMIM:617780
HP:0032245	Abnormal metabolism	29929	ALG6	OMIM:603147
HP:0032245	Abnormal metabolism	29929	ALG6	ORPHA:79320
HP:0032245	Abnormal metabolism	1650	DDOST	ORPHA:300536
HP:0032245	Abnormal metabolism	1650	DDOST	OMIM:614507
HP:0032245	Abnormal metabolism	4351	MPI	OMIM:602579
HP:0032245	Abnormal metabolism	8813	DPM1	OMIM:608799
HP:0032245	Abnormal metabolism	6748	SSR4	OMIM:300934
HP:0032245	Abnormal metabolism	85365	ALG2	OMIM:607906
HP:0032245	Abnormal metabolism	85365	ALG2	ORPHA:79326
HP:0032245	Abnormal metabolism	1798	DPAGT1	OMIM:608093
HP:0032245	Abnormal metabolism	8818	DPM2	ORPHA:329178
HP:0032245	Abnormal metabolism	22845	DOLK	ORPHA:91131
HP:0032245	Abnormal metabolism	22845	DOLK	OMIM:610768
HP:0032245	Abnormal metabolism	9526	MPDU1	ORPHA:79323
HP:0032245	Abnormal metabolism	79053	ALG8	ORPHA:79325
HP:0032245	Abnormal metabolism	79053	ALG8	OMIM:608104
HP:0032245	Abnormal metabolism	79087	ALG12	OMIM:607143
HP:0032245	Abnormal metabolism	10195	ALG3	OMIM:601110
HP:0032245	Abnormal metabolism	79644	SRD5A3	ORPHA:324737
HP:0032245	Abnormal metabolism	79644	SRD5A3	OMIM:612379
HP:0032245	Abnormal metabolism	84061	MAGT1	OMIM:301031
HP:0032245	Abnormal metabolism	440138	ALG11	ORPHA:280071
HP:0032245	Abnormal metabolism	440138	ALG11	OMIM:613661
HP:0032245	Abnormal metabolism	79868	ALG13	OMIM:300884
HP:0032245	Abnormal metabolism	91869	RFT1	OMIM:612015
HP:0032245	Abnormal metabolism	54344	DPM3	OMIM:612937
HP:0032245	Abnormal metabolism	56052	ALG1	OMIM:608540
HP:0032245	Abnormal metabolism	5373	PMM2	OMIM:212065
HP:0032245	Abnormal metabolism	6898	TAT	ORPHA:28378
HP:0032245	Abnormal metabolism	875	CBS	ORPHA:394
HP:0032245	Abnormal metabolism	2068	ERCC2	ORPHA:220295
HP:0032245	Abnormal metabolism	2073	ERCC5	ORPHA:220295
HP:0032245	Abnormal metabolism	2072	ERCC4	ORPHA:220295
HP:0032245	Abnormal metabolism	2071	ERCC3	ORPHA:220295
HP:0032245	Abnormal metabolism	175	AGA	ORPHA:93
HP:0032245	Abnormal metabolism	55532	SLC30A10	ORPHA:309854
HP:0032245	Abnormal metabolism	595	CCND1	ORPHA:29073
HP:0032245	Abnormal metabolism	53630	BCO1	OMIM:115300
HP:0032245	Abnormal metabolism	130589	GALM	ORPHA:570422
HP:0032245	Abnormal metabolism	6514	SLC2A2	ORPHA:2088
HP:0032245	Abnormal metabolism	229	ALDOB	OMIM:229600
HP:0032245	Abnormal metabolism	7276	TTR	OMIM:115430
HP:0032245	Abnormal metabolism	8659	ALDH4A1	ORPHA:79101
HP:0032245	Abnormal metabolism	1581	CYP7A1	ORPHA:209902
HP:0032245	Abnormal metabolism	3795	KHK	ORPHA:2056
HP:0032245	Abnormal metabolism	3795	KHK	OMIM:229800
HP:0032245	Abnormal metabolism	9414	TJP2	OMIM:607748
HP:0032245	Abnormal metabolism	23600	AMACR	ORPHA:79095
HP:0032245	Abnormal metabolism	3117	HLA-DQA1	OMIM:212750
HP:0032245	Abnormal metabolism	3119	HLA-DQB1	OMIM:212750
HP:0032245	Abnormal metabolism	2859	GPR35	ORPHA:171
HP:0032245	Abnormal metabolism	10507	SEMA4D	ORPHA:171
HP:0032245	Abnormal metabolism	4485	MST1	ORPHA:171
HP:0032245	Abnormal metabolism	6925	TCF4	ORPHA:171
HP:0032245	Abnormal metabolism	199221	DZIP1L	ORPHA:731
HP:0032245	Abnormal metabolism	5314	PKHD1	ORPHA:731
HP:0032245	Abnormal metabolism	134218	DNAJC21	ORPHA:811
HP:0032245	Abnormal metabolism	79631	EFL1	ORPHA:811
HP:0032245	Abnormal metabolism	51119	SBDS	ORPHA:811
HP:0032245	Abnormal metabolism	6729	SRP54	ORPHA:811
HP:0032245	Abnormal metabolism	4041	LRP5	ORPHA:2788
HP:0032245	Abnormal metabolism	1576	CYP3A4	OMIM:619073
HP:0032245	Abnormal metabolism	1594	CYP27B1	OMIM:264700
HP:0032245	Abnormal metabolism	1594	CYP27B1	ORPHA:289157
HP:0032245	Abnormal metabolism	1758	DMP1	ORPHA:289176
HP:0032245	Abnormal metabolism	5167	ENPP1	ORPHA:289176
HP:0032245	Abnormal metabolism	120227	CYP2R1	ORPHA:289157
HP:0032245	Abnormal metabolism	10159	ATP6AP2	OMIM:301045
HP:0032245	Abnormal metabolism	25839	COG4	ORPHA:263501
HP:0032245	Abnormal metabolism	25839	COG4	OMIM:613489
HP:0032245	Abnormal metabolism	91949	COG7	OMIM:608779
HP:0032245	Abnormal metabolism	91949	COG7	ORPHA:79333
HP:0032245	Abnormal metabolism	11253	MAN1B1	ORPHA:397941
HP:0032245	Abnormal metabolism	84342	COG8	OMIM:611182
HP:0032245	Abnormal metabolism	537	ATP6AP1	OMIM:300972
HP:0032245	Abnormal metabolism	57511	COG6	OMIM:614576
HP:0032245	Abnormal metabolism	2542	SLC37A4	OMIM:619525
HP:0032245	Abnormal metabolism	10466	COG5	OMIM:613612
HP:0032245	Abnormal metabolism	819	CAMLG	OMIM:620201
HP:0032245	Abnormal metabolism	64116	SLC39A8	ORPHA:468699
HP:0032245	Abnormal metabolism	4247	MGAT2	OMIM:212066
HP:0032245	Abnormal metabolism	2683	B4GALT1	ORPHA:79332
HP:0032245	Abnormal metabolism	51608	GET4	OMIM:620200
HP:0032245	Abnormal metabolism	9382	COG1	OMIM:611209
HP:0032245	Abnormal metabolism	9382	COG1	ORPHA:263508
HP:0032245	Abnormal metabolism	790	CAD	OMIM:616457
HP:0032245	Abnormal metabolism	201595	STT3B	OMIM:615597
HP:0032245	Abnormal metabolism	201595	STT3B	ORPHA:370924
HP:0032245	Abnormal metabolism	7355	SLC35A2	ORPHA:356961
HP:0032245	Abnormal metabolism	84317	CCDC115	OMIM:616828
HP:0032245	Abnormal metabolism	22796	COG2	OMIM:617395
HP:0032245	Abnormal metabolism	3703	STT3A	OMIM:615596
HP:0032245	Abnormal metabolism	3703	STT3A	ORPHA:370921
HP:0032245	Abnormal metabolism	80267	EDEM3	OMIM:619493
HP:0032245	Abnormal metabolism	147007	TMEM199	OMIM:616829
HP:0032245	Abnormal metabolism	2590	GALNT2	OMIM:618885
HP:0032245	Abnormal metabolism	50640	PNPLA8	OMIM:251950
HP:0032245	Abnormal metabolism	1719	DHFR	OMIM:613839
HP:0032245	Abnormal metabolism	6711	SPTBN1	OMIM:619475
HP:0032245	Abnormal metabolism	142680	SLC34A3	OMIM:241530
HP:0032245	Abnormal metabolism	7421	VDR	OMIM:277440
HP:0032245	Abnormal metabolism	6569	SLC34A1	OMIM:613388
HP:0032245	Abnormal metabolism	6569	SLC34A1	ORPHA:157215
HP:0032245	Abnormal metabolism	2591	GALNT3	OMIM:211900
HP:0032245	Abnormal metabolism	1184	CLCN5	OMIM:300554
HP:0032245	Abnormal metabolism	1184	CLCN5	OMIM:300009
HP:0032245	Abnormal metabolism	9365	KL	OMIM:617994
HP:0032245	Abnormal metabolism	10841	FTCD	ORPHA:51208
HP:0032245	Abnormal metabolism	355	FAS	ORPHA:3261
HP:0032245	Abnormal metabolism	356	FASLG	ORPHA:3261
HP:0032245	Abnormal metabolism	5580	PRKCD	ORPHA:3261
HP:0032245	Abnormal metabolism	843	CASP10	ORPHA:3261
HP:0032245	Abnormal metabolism	10125	RASGRP1	ORPHA:3261
HP:0032245	Abnormal metabolism	6948	TCN2	OMIM:275350
HP:0032245	Abnormal metabolism	11342	RNF13	ORPHA:544503
HP:0032245	Abnormal metabolism	2917	GRM7	OMIM:618922
HP:0032245	Abnormal metabolism	55788	LMBRD1	ORPHA:79284
HP:0032245	Abnormal metabolism	6573	SLC19A1	OMIM:601775
HP:0032245	Abnormal metabolism	2984	GUCY2C	OMIM:614616
HP:0032245	Abnormal metabolism	215	ABCD1	ORPHA:139399
HP:0032245	Abnormal metabolism	6492	SIM1	ORPHA:369873
HP:0032245	Abnormal metabolism	1737	DLAT	ORPHA:79244
HP:0032245	Abnormal metabolism	55065	SLC52A1	OMIM:615026
HP:0032245	Abnormal metabolism	55593	OTUD5	OMIM:301056
HP:0032245	Abnormal metabolism	113235	SLC46A1	OMIM:229050
HP:0032245	Abnormal metabolism	374879	ZNF699	OMIM:619488
HP:0032245	Abnormal metabolism	4312	MMP1	ORPHA:79408
HP:0032245	Abnormal metabolism	1294	COL7A1	ORPHA:79408
HP:0032245	Abnormal metabolism	51128	SAR1B	ORPHA:71
HP:0032245	Abnormal metabolism	9420	CYP7B1	ORPHA:79302
HP:0032245	Abnormal metabolism	3376	IARS1	ORPHA:541423
HP:0032245	Abnormal metabolism	2592	GALT	ORPHA:79239
HP:0032245	Abnormal metabolism	6554	SLC10A1	OMIM:619256
HP:0032245	Abnormal metabolism	8074	FGF23	ORPHA:89937
HP:0032245	Abnormal metabolism	54914	FOCAD	OMIM:619991
HP:0032245	Abnormal metabolism	6135	RPL11	OMIM:612562
HP:0032245	Abnormal metabolism	2006	ELN	ORPHA:90348
HP:0032245	Abnormal metabolism	10516	FBLN5	ORPHA:90348
HP:0032245	Abnormal metabolism	5832	ALDH18A1	ORPHA:90348
HP:0032245	Abnormal metabolism	10056	FARSB	OMIM:613658
HP:0032245	Abnormal metabolism	5745	PTH1R	OMIM:600002
HP:0032245	Abnormal metabolism	4547	MTTP	ORPHA:14
HP:0032245	Abnormal metabolism	123264	SLC51B	OMIM:619481
HP:0032245	Abnormal metabolism	8309	ACOX2	OMIM:617308
HP:0032245	Abnormal metabolism	1497	CTNS	ORPHA:411634
HP:0032245	Abnormal metabolism	7390	UROS	ORPHA:79277
HP:0032245	Abnormal metabolism	2623	GATA1	ORPHA:79277
HP:0032245	Abnormal metabolism	6204	RPS10	OMIM:613308
HP:0032245	Abnormal metabolism	4952	OCRL	ORPHA:534
HP:0032245	Abnormal metabolism	57704	GBA2	ORPHA:352641
HP:0032245	Abnormal metabolism	338	APOB	OMIM:615558
HP:0032245	Abnormal metabolism	7274	TTPA	OMIM:277460
HP:0032245	Abnormal metabolism	6718	AKR1D1	ORPHA:79303
HP:0032245	Abnormal metabolism	2694	CBLIF	OMIM:261000
HP:0032245	Abnormal metabolism	8029	CUBN	ORPHA:35858
HP:0032245	Abnormal metabolism	81693	AMN	ORPHA:35858
HP:0006390	Anterior tibial bowing	23314	SATB2	OMIM:612313
HP:0006390	Anterior tibial bowing	6662	SOX9	OMIM:114290
HP:0032247	Persistent CMV viremia	27040	LAT	OMIM:617514
HP:0032247	Persistent CMV viremia	5295	PIK3R1	OMIM:616005
HP:0032247	Persistent CMV viremia	5966	REL	OMIM:619652
HP:0032247	Persistent CMV viremia	84061	MAGT1	OMIM:300853
HP:0032247	Persistent CMV viremia	7174	TPP2	OMIM:619220
HP:0032247	Persistent CMV viremia	3560	IL2RB	OMIM:618495
HP:0032248	Persistent viremia	84061	MAGT1	OMIM:300853
HP:0032248	Persistent viremia	10043	TOM1	OMIM:619510
HP:0032248	Persistent viremia	54790	TET2	OMIM:619126
HP:0032248	Persistent viremia	939	CD27	OMIM:615122
HP:0032248	Persistent viremia	28755	TRAC	OMIM:615387
HP:0032248	Persistent viremia	3702	ITK	OMIM:613011
HP:0032248	Persistent viremia	50619	DEF6	OMIM:619573
HP:0032248	Persistent viremia	27040	LAT	OMIM:617514
HP:0032248	Persistent viremia	5295	PIK3R1	OMIM:616005
HP:0032248	Persistent viremia	5580	PRKCD	OMIM:615559
HP:0032248	Persistent viremia	22806	IKZF3	OMIM:619437
HP:0032248	Persistent viremia	5238	PGM3	OMIM:615816
HP:0032248	Persistent viremia	5966	REL	OMIM:619652
HP:0032248	Persistent viremia	7174	TPP2	OMIM:619220
HP:0032248	Persistent viremia	3560	IL2RB	OMIM:618495
HP:0032248	Persistent viremia	1503	CTPS1	OMIM:615897
HP:0032249	Coccidioidomycosis	6772	STAT1	OMIM:614162
HP:0032249	Coccidioidomycosis	3594	IL12RB1	ORPHA:319552
HP:0006391	Overtubulated long bones	25839	COG4	OMIM:618150
HP:0006391	Overtubulated long bones	526	ATP6V1B2	ORPHA:3473
HP:0006391	Overtubulated long bones	3756	KCNH1	ORPHA:3473
HP:0006391	Overtubulated long bones	3782	KCNN3	ORPHA:3473
HP:0006391	Overtubulated long bones	10269	ZMPSTE24	OMIM:275210
HP:0006391	Overtubulated long bones	4000	LMNA	OMIM:619793
HP:0006392	Increased density of long bones	1436	CSF1R	OMIM:618476
HP:0006392	Increased density of long bones	2778	GNAS	ORPHA:94089
HP:0006392	Increased density of long bones	8675	STX16	ORPHA:94089
HP:0006392	Increased density of long bones	760	CA2	OMIM:259730
HP:0006392	Increased density of long bones	8600	TNFSF11	OMIM:259710
HP:0006392	Increased density of long bones	50964	SOST	OMIM:122860
HP:0006392	Increased density of long bones	7040	TGFB1	OMIM:131300
HP:0006392	Increased density of long bones	8792	TNFRSF11A	OMIM:602080
HP:0006392	Increased density of long bones	203859	ANO5	OMIM:166260
HP:0006392	Increased density of long bones	4507	MTAP	OMIM:112250
HP:0006392	Increased density of long bones	26040	SETBP1	OMIM:269150
HP:0006392	Increased density of long bones	2316	FLNA	OMIM:305620
HP:0006394	Limited pronation/supination of forearm	4010	LMX1B	ORPHA:2614
HP:0006394	Limited pronation/supination of forearm	4233	MET	OMIM:620019
HP:0006394	Limited pronation/supination of forearm	4091	SMAD6	OMIM:179300
HP:0006394	Limited pronation/supination of forearm	10584	COLEC10	ORPHA:293843
HP:0006394	Limited pronation/supination of forearm	5648	MASP1	ORPHA:293843
HP:0006394	Limited pronation/supination of forearm	78989	COLEC11	ORPHA:293843
HP:0006394	Limited pronation/supination of forearm	2122	MECOM	OMIM:616738
HP:0006394	Limited pronation/supination of forearm	3207	HOXA11	OMIM:605432
HP:0006394	Limited pronation/supination of forearm	387733	IFITM5	OMIM:610967
HP:0002996	Limited elbow movement	1311	COMP	ORPHA:750
HP:0002996	Limited elbow movement	1311	COMP	OMIM:177170
HP:0002996	Limited elbow movement	1280	COL2A1	OMIM:271700
HP:0002996	Limited elbow movement	1280	COL2A1	ORPHA:1856
HP:0002996	Limited elbow movement	4322	MMP13	OMIM:602111
HP:0002996	Limited elbow movement	4882	NPR2	OMIM:602875
HP:0002996	Limited elbow movement	10262	SF3B4	OMIM:154400
HP:0002996	Limited elbow movement	6424	SFRP4	OMIM:265900
HP:0002996	Limited elbow movement	85301	COL27A1	OMIM:615155
HP:0002996	Limited elbow movement	80207	OPA3	ORPHA:67036
HP:0002996	Limited elbow movement	23233	EXOC6B	ORPHA:93359
HP:0002996	Limited elbow movement	126792	B3GALT6	ORPHA:93359
HP:0002996	Limited elbow movement	4010	LMX1B	ORPHA:2614
HP:0002996	Limited elbow movement	4010	LMX1B	OMIM:161200
HP:0002996	Limited elbow movement	6023	RMRP	OMIM:250250
HP:0002996	Limited elbow movement	6023	RMRP	ORPHA:175
HP:0002996	Limited elbow movement	6023	RMRP	OMIM:607095
HP:0002996	Limited elbow movement	89970	RSPRY1	OMIM:616723
HP:0002996	Limited elbow movement	89970	RSPRY1	ORPHA:457395
HP:0002996	Limited elbow movement	10274	STAG1	ORPHA:502434
HP:0002996	Limited elbow movement	538	ATP7A	OMIM:304150
HP:0002996	Limited elbow movement	4796	TONSL	ORPHA:93357
HP:0002996	Limited elbow movement	4796	TONSL	OMIM:271510
HP:0002996	Limited elbow movement	10060	ABCC9	OMIM:619719
HP:0002996	Limited elbow movement	5447	POR	ORPHA:95699
HP:0002996	Limited elbow movement	4148	MATN3	OMIM:608728
HP:0002996	Limited elbow movement	4148	MATN3	ORPHA:156728
HP:0002996	Limited elbow movement	55869	HDAC8	OMIM:300882
HP:0002996	Limited elbow movement	100151683	RNU4ATAC	OMIM:226960
HP:0002996	Limited elbow movement	5594	MAPK1	OMIM:619087
HP:0002996	Limited elbow movement	54928	BPNT2	OMIM:614078
HP:0002996	Limited elbow movement	83737	ITCH	OMIM:613385
HP:0002996	Limited elbow movement	55790	CSGALNACT1	OMIM:618870
HP:0002996	Limited elbow movement	1299	COL9A3	OMIM:600969
HP:0002996	Limited elbow movement	2782	GNB1	OMIM:616973
HP:0002996	Limited elbow movement	2263	FGFR2	OMIM:123790
HP:0002996	Limited elbow movement	2201	FBN2	OMIM:121050
HP:0002996	Limited elbow movement	23529	CLCF1	OMIM:610313
HP:0002996	Limited elbow movement	7030	TFE3	OMIM:301066
HP:0002996	Limited elbow movement	2200	FBN1	OMIM:154700
HP:0002996	Limited elbow movement	10082	GPC6	OMIM:258315
HP:0002996	Limited elbow movement	2261	FGFR3	OMIM:146000
HP:0002996	Limited elbow movement	2261	FGFR3	OMIM:100800
HP:0002996	Limited elbow movement	2261	FGFR3	ORPHA:15
HP:0002996	Limited elbow movement	25836	NIPBL	OMIM:122470
HP:0002996	Limited elbow movement	2146	EZH2	OMIM:277590
HP:0002996	Limited elbow movement	2317	FLNB	OMIM:272460
HP:0002996	Limited elbow movement	6910	TBX5	OMIM:142900
HP:0002996	Limited elbow movement	633	BGN	OMIM:300106
HP:0002996	Limited elbow movement	83452	RAB33B	OMIM:615222
HP:0002996	Limited elbow movement	6999	TDO2	OMIM:600627
HP:0002996	Limited elbow movement	2316	FLNA	OMIM:309350
HP:0002996	Limited elbow movement	2316	FLNA	OMIM:311300
HP:0002996	Limited elbow movement	55012	PPP2R3C	OMIM:618419
HP:0002996	Limited elbow movement	200734	SPRED2	OMIM:619745
HP:0002996	Limited elbow movement	3930	LBR	OMIM:618019
HP:0002996	Limited elbow movement	5116	PCNT	OMIM:210720
HP:0002996	Limited elbow movement	9244	CRLF1	OMIM:272430
HP:0002996	Limited elbow movement	157570	ESCO2	OMIM:216100
HP:0002996	Limited elbow movement	54808	DYM	ORPHA:239
HP:0002996	Limited elbow movement	2137	EXTL3	ORPHA:508533
HP:0002996	Limited elbow movement	11160	ERLIN2	ORPHA:280384
HP:0002996	Limited elbow movement	11160	ERLIN2	ORPHA:209951
HP:0002996	Limited elbow movement	4921	DDR2	OMIM:271665
HP:0002996	Limited elbow movement	4921	DDR2	OMIM:618175
HP:0002996	Limited elbow movement	57190	SELENON	ORPHA:97244
HP:0002996	Limited elbow movement	57190	SELENON	ORPHA:2020
HP:0002996	Limited elbow movement	58	ACTA1	ORPHA:97244
HP:0002996	Limited elbow movement	58	ACTA1	ORPHA:2020
HP:0002996	Limited elbow movement	83932	SPRTN	OMIM:616200
HP:0002996	Limited elbow movement	5352	PLOD2	OMIM:609220
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:75840
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:536516
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:610
HP:0002996	Limited elbow movement	1291	COL6A1	ORPHA:75840
HP:0002996	Limited elbow movement	1291	COL6A1	ORPHA:610
HP:0002996	Limited elbow movement	1291	COL6A1	OMIM:158810
HP:0002996	Limited elbow movement	1292	COL6A2	ORPHA:75840
HP:0002996	Limited elbow movement	1292	COL6A2	ORPHA:610
HP:0002996	Limited elbow movement	1292	COL6A2	OMIM:158810
HP:0002996	Limited elbow movement	1293	COL6A3	ORPHA:75840
HP:0002996	Limited elbow movement	1293	COL6A3	ORPHA:610
HP:0002996	Limited elbow movement	1293	COL6A3	OMIM:158810
HP:0002996	Limited elbow movement	4000	LMNA	OMIM:181350
HP:0002996	Limited elbow movement	4000	LMNA	OMIM:248370
HP:0002996	Limited elbow movement	4000	LMNA	OMIM:616516
HP:0002996	Limited elbow movement	4000	LMNA	ORPHA:98855
HP:0002996	Limited elbow movement	4000	LMNA	ORPHA:98853
HP:0002996	Limited elbow movement	6840	SVIL	OMIM:619040
HP:0002996	Limited elbow movement	55315	SLC29A3	OMIM:602782
HP:0002996	Limited elbow movement	825	CAPN3	ORPHA:267
HP:0002996	Limited elbow movement	91179	SCARF2	OMIM:600920
HP:0002996	Limited elbow movement	3714	JAG2	OMIM:619566
HP:0002996	Limited elbow movement	6536	SLC6A9	OMIM:617301
HP:0002996	Limited elbow movement	5831	PYCR1	OMIM:614438
HP:0002996	Limited elbow movement	2067	ERCC1	OMIM:610758
HP:0002996	Limited elbow movement	4621	MYH3	OMIM:193700
HP:0002996	Limited elbow movement	4621	MYH3	OMIM:178110
HP:0002996	Limited elbow movement	2010	EMD	OMIM:310300
HP:0002996	Limited elbow movement	2010	EMD	ORPHA:98863
HP:0002996	Limited elbow movement	5351	PLOD1	ORPHA:1900
HP:0002996	Limited elbow movement	7020	TFAP2A	OMIM:113620
HP:0002996	Limited elbow movement	6926	TBX3	OMIM:181450
HP:0002996	Limited elbow movement	4633	MYL2	ORPHA:2020
HP:0002996	Limited elbow movement	3679	ITGA7	ORPHA:2020
HP:0002996	Limited elbow movement	7169	TPM2	ORPHA:2020
HP:0002996	Limited elbow movement	7169	TPM2	OMIM:108120
HP:0002996	Limited elbow movement	9200	HACD1	ORPHA:2020
HP:0002996	Limited elbow movement	7170	TPM3	ORPHA:2020
HP:0002996	Limited elbow movement	51776	MAP3K20	ORPHA:2020
HP:0002996	Limited elbow movement	3977	LIFR	OMIM:601559
HP:0002996	Limited elbow movement	3977	LIFR	ORPHA:3206
HP:0002996	Limited elbow movement	127833	SYT2	OMIM:619461
HP:0002996	Limited elbow movement	54681	P4HTM	OMIM:618493
HP:0002996	Limited elbow movement	5277	PIGA	OMIM:300868
HP:0002996	Limited elbow movement	8985	PLOD3	OMIM:612394
HP:0002996	Limited elbow movement	545	ATR	OMIM:210600
HP:0002996	Limited elbow movement	3908	LAMA2	OMIM:618138
HP:0002996	Limited elbow movement	2783	GNB2	OMIM:619503
HP:0002996	Limited elbow movement	4632	MYL1	OMIM:618414
HP:0002996	Limited elbow movement	2074	ERCC6	OMIM:214150
HP:0002996	Limited elbow movement	9653	HS2ST1	OMIM:619194
HP:0002996	Limited elbow movement	9051	PSTPIP1	OMIM:604416
HP:0002996	Limited elbow movement	59341	TRPV4	OMIM:600175
HP:0002996	Limited elbow movement	59341	TRPV4	OMIM:184252
HP:0002996	Limited elbow movement	84065	TMEM222	OMIM:619470
HP:0002996	Limited elbow movement	3835	KIF22	ORPHA:93360
HP:0002996	Limited elbow movement	9791	PTDSS1	OMIM:151050
HP:0002996	Limited elbow movement	5307	PITX1	OMIM:186550
HP:0002996	Limited elbow movement	6628	SNRPB	OMIM:117650
HP:0002996	Limited elbow movement	29895	MYL11	OMIM:619110
HP:0002996	Limited elbow movement	340419	RSPO2	OMIM:618022
HP:0002996	Limited elbow movement	1861	TOR1A	OMIM:618947
HP:0002996	Limited elbow movement	259232	NALCN	ORPHA:371364
HP:0002996	Limited elbow movement	259232	NALCN	OMIM:616266
HP:0002996	Limited elbow movement	285175	UNC80	ORPHA:371364
HP:0002996	Limited elbow movement	84992	PIGY	OMIM:616809
HP:0002996	Limited elbow movement	2222	FDFT1	OMIM:618156
HP:0002996	Limited elbow movement	163175	LGI4	OMIM:617468
HP:0002996	Limited elbow movement	60681	FKBP10	OMIM:259450
HP:0002996	Limited elbow movement	2799	GNS	OMIM:252940
HP:0002996	Limited elbow movement	9215	LARGE1	OMIM:608840
HP:0002996	Limited elbow movement	1376	CPT2	OMIM:608836
HP:0002996	Limited elbow movement	342035	GLDN	OMIM:617194
HP:0002996	Limited elbow movement	339855	KY	OMIM:617114
HP:0002996	Limited elbow movement	5286	PIK3C2A	OMIM:618440
HP:0002996	Limited elbow movement	7317	UBA1	ORPHA:1145
HP:0002996	Limited elbow movement	23219	FBXO28	OMIM:619777
HP:0002996	Limited elbow movement	55681	SCYL2	ORPHA:1143
HP:0002996	Limited elbow movement	84570	COL25A1	ORPHA:1143
HP:0002996	Limited elbow movement	57222	ERGIC1	ORPHA:1143
HP:0002996	Limited elbow movement	7476	WNT7A	OMIM:276820
HP:0002996	Limited elbow movement	6885	MAP3K7	ORPHA:1826
HP:0002996	Limited elbow movement	64116	SLC39A8	ORPHA:468699
HP:0002996	Limited elbow movement	5832	ALDH18A1	ORPHA:447757
HP:0002996	Limited elbow movement	2273	FHL1	ORPHA:98863
HP:0002996	Limited elbow movement	6913	TBX15	ORPHA:93333
HP:0002996	Limited elbow movement	26229	B3GAT3	OMIM:245600
HP:0002996	Limited elbow movement	91137	SLC25A46	OMIM:619303
HP:0002996	Limited elbow movement	9427	ECEL1	OMIM:615065
HP:0002996	Limited elbow movement	2706	GJB2	OMIM:148210
HP:0002996	Limited elbow movement	5696	PSMB8	OMIM:256040
HP:0002996	Limited elbow movement	1756	DMD	ORPHA:206546
HP:0002996	Limited elbow movement	79188	TMEM43	ORPHA:98853
HP:0002996	Limited elbow movement	23345	SYNE1	ORPHA:98853
HP:0002996	Limited elbow movement	23224	SYNE2	ORPHA:98853
HP:0002996	Limited elbow movement	203859	ANO5	ORPHA:206549
HP:0002996	Limited elbow movement	8243	SMC1A	OMIM:300590
HP:0002996	Limited elbow movement	6399	TRAPPC2	ORPHA:93284
HP:0002996	Limited elbow movement	145173	B3GLCT	OMIM:261540
HP:0002996	Limited elbow movement	57167	SALL4	OMIM:147750
HP:0002996	Limited elbow movement	8815	BANF1	OMIM:614008
HP:0002996	Limited elbow movement	6473	SHOX	OMIM:127300
HP:0002996	Limited elbow movement	8291	DYSF	ORPHA:268
HP:0002996	Limited elbow movement	9401	RECQL4	OMIM:218600
HP:0002996	Limited elbow movement	5781	PTPN11	OMIM:151100
HP:0002996	Limited elbow movement	3265	HRAS	OMIM:218040
HP:0002996	Limited elbow movement	9126	SMC3	OMIM:610759
HP:0002996	Limited elbow movement	4054	LTBP3	OMIM:617809
HP:0002996	Limited elbow movement	51305	KCNK9	ORPHA:166108
HP:0002996	Limited elbow movement	9968	MED12	ORPHA:93932
HP:0002996	Limited elbow movement	7474	WNT5A	OMIM:180700
HP:0002996	Limited elbow movement	1855	DVL1	OMIM:180700
HP:0002996	Limited elbow movement	5745	PTH1R	ORPHA:79106
HP:0002996	Limited elbow movement	9499	MYOT	ORPHA:266
HP:0002996	Limited elbow movement	2535	FZD2	OMIM:164745
HP:0002996	Limited elbow movement	1836	SLC26A2	OMIM:226900
HP:0002996	Limited elbow movement	4233	MET	OMIM:620019
HP:0002996	Limited elbow movement	4091	SMAD6	OMIM:179300
HP:0002996	Limited elbow movement	10584	COLEC10	ORPHA:293843
HP:0002996	Limited elbow movement	5648	MASP1	ORPHA:293843
HP:0002996	Limited elbow movement	78989	COLEC11	ORPHA:293843
HP:0002996	Limited elbow movement	2122	MECOM	OMIM:616738
HP:0002996	Limited elbow movement	3207	HOXA11	OMIM:605432
HP:0002996	Limited elbow movement	387733	IFITM5	OMIM:610967
HP:0002996	Limited elbow movement	9469	CHST3	OMIM:143095
HP:0002996	Limited elbow movement	6812	STXBP1	ORPHA:495818
HP:0002996	Limited elbow movement	171023	ASXL1	ORPHA:97297
HP:0005613	Aplasia/hypoplasia of the femur	9949	AMMECR1	OMIM:300990
HP:0005613	Aplasia/hypoplasia of the femur	8200	GDF5	OMIM:200700
HP:0005613	Aplasia/hypoplasia of the femur	10588	MTHFS	OMIM:618367
HP:0005613	Aplasia/hypoplasia of the femur	65250	CPLANE1	OMIM:277170
HP:0005613	Aplasia/hypoplasia of the femur	23483	TGDS	OMIM:616145
HP:0005613	Aplasia/hypoplasia of the femur	55503	TRPV6	OMIM:618188
HP:0005613	Aplasia/hypoplasia of the femur	57167	SALL4	OMIM:147750
HP:0005613	Aplasia/hypoplasia of the femur	100151683	RNU4ATAC	OMIM:210710
HP:0005613	Aplasia/hypoplasia of the femur	815	CAMK2A	OMIM:617798
HP:0005613	Aplasia/hypoplasia of the femur	727857	BHLHA9	ORPHA:3329
HP:0005613	Aplasia/hypoplasia of the femur	9496	TBX4	OMIM:147891
HP:0005613	Aplasia/hypoplasia of the femur	11128	POLR3A	OMIM:264090
HP:0005613	Aplasia/hypoplasia of the femur	11128	POLR3A	ORPHA:3455
HP:0005613	Aplasia/hypoplasia of the femur	6913	TBX15	ORPHA:93333
HP:0005613	Aplasia/hypoplasia of the femur	2317	FLNB	OMIM:108720
HP:0005613	Aplasia/hypoplasia of the femur	2317	FLNB	ORPHA:1190
HP:0005613	Aplasia/hypoplasia of the femur	79087	ALG12	OMIM:607143
HP:0005613	Aplasia/hypoplasia of the femur	22827	PUF60	ORPHA:508488
HP:0005613	Aplasia/hypoplasia of the femur	8540	AGPS	OMIM:600121
HP:0005613	Aplasia/hypoplasia of the femur	8802	SUCLG1	ORPHA:17
HP:0005613	Aplasia/hypoplasia of the femur	202018	TAPT1	OMIM:616897
HP:0005613	Aplasia/hypoplasia of the femur	8792	TNFRSF11A	OMIM:602080
HP:0005613	Aplasia/hypoplasia of the femur	871	SERPINH1	OMIM:613848
HP:0005613	Aplasia/hypoplasia of the femur	1301	COL11A1	ORPHA:440354
HP:0005613	Aplasia/hypoplasia of the femur	7476	WNT7A	OMIM:276820
HP:0005613	Aplasia/hypoplasia of the femur	7476	WNT7A	OMIM:228930
HP:0005613	Aplasia/hypoplasia of the femur	3459	IFNGR1	OMIM:209950
HP:0005613	Aplasia/hypoplasia of the femur	3425	IDUA	OMIM:607014
HP:0005613	Aplasia/hypoplasia of the femur	26146	TRAF3IP1	OMIM:616629
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	OMIM:184255
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	ORPHA:93316
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	OMIM:609162
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	ORPHA:94068
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	ORPHA:166011
HP:0005613	Aplasia/hypoplasia of the femur	2335	FN1	OMIM:184255
HP:0005613	Aplasia/hypoplasia of the femur	1311	COMP	ORPHA:750
HP:0005613	Aplasia/hypoplasia of the femur	1311	COMP	OMIM:132400
HP:0005613	Aplasia/hypoplasia of the femur	6399	TRAPPC2	ORPHA:93284
HP:0005613	Aplasia/hypoplasia of the femur	6399	TRAPPC2	OMIM:313400
HP:0005613	Aplasia/hypoplasia of the femur	65992	DDRGK1	OMIM:602557
HP:0005613	Aplasia/hypoplasia of the femur	9131	AIFM1	OMIM:300232
HP:0005613	Aplasia/hypoplasia of the femur	5885	RAD21	OMIM:614701
HP:0005613	Aplasia/hypoplasia of the femur	89970	RSPRY1	OMIM:616723
HP:0005613	Aplasia/hypoplasia of the femur	89970	RSPRY1	ORPHA:457395
HP:0005613	Aplasia/hypoplasia of the femur	755	CFAP410	OMIM:602271
HP:0005613	Aplasia/hypoplasia of the femur	4796	TONSL	ORPHA:93357
HP:0005613	Aplasia/hypoplasia of the femur	59341	TRPV4	ORPHA:93314
HP:0005613	Aplasia/hypoplasia of the femur	59341	TRPV4	OMIM:113500
HP:0005613	Aplasia/hypoplasia of the femur	91147	TMEM67	OMIM:602152
HP:0005613	Aplasia/hypoplasia of the femur	8720	MBTPS1	OMIM:618392
HP:0005613	Aplasia/hypoplasia of the femur	10651	MTX2	OMIM:619127
HP:0005613	Aplasia/hypoplasia of the femur	6473	SHOX	OMIM:249700
HP:0005613	Aplasia/hypoplasia of the femur	6473	SHOX	ORPHA:2632
HP:0005613	Aplasia/hypoplasia of the femur	23233	EXOC6B	OMIM:618395
HP:0005613	Aplasia/hypoplasia of the femur	8838	CCN6	ORPHA:1159
HP:0005613	Aplasia/hypoplasia of the femur	1836	SLC26A2	ORPHA:93307
HP:0005613	Aplasia/hypoplasia of the femur	10216	PRG4	ORPHA:2848
HP:0005613	Aplasia/hypoplasia of the femur	388015	RTL1	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	8788	DLK1	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	55384	MEG3	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	124583	CANT1	OMIM:251450
HP:0005613	Aplasia/hypoplasia of the femur	124583	CANT1	OMIM:617719
HP:0005613	Aplasia/hypoplasia of the femur	4148	MATN3	OMIM:607078
HP:0005613	Aplasia/hypoplasia of the femur	126792	B3GALT6	OMIM:271640
HP:0005613	Aplasia/hypoplasia of the femur	10940	POP1	OMIM:617396
HP:0005613	Aplasia/hypoplasia of the femur	4318	MMP9	OMIM:613073
HP:0005613	Aplasia/hypoplasia of the femur	84068	SLC10A7	OMIM:618363
HP:0005613	Aplasia/hypoplasia of the femur	5286	PIK3C2A	OMIM:618440
HP:0005613	Aplasia/hypoplasia of the femur	9469	CHST3	OMIM:143095
HP:0005613	Aplasia/hypoplasia of the femur	2261	FGFR3	OMIM:146000
HP:0005613	Aplasia/hypoplasia of the femur	2261	FGFR3	OMIM:100800
HP:0005613	Aplasia/hypoplasia of the femur	1108	CHD4	OMIM:617159
HP:0005613	Aplasia/hypoplasia of the femur	54187	NANS	OMIM:610442
HP:0005613	Aplasia/hypoplasia of the femur	64131	XYLT1	ORPHA:370930
HP:0005613	Aplasia/hypoplasia of the femur	658	BMPR1B	OMIM:609441
HP:0005613	Aplasia/hypoplasia of the femur	91252	SLC39A13	ORPHA:157965
HP:0005613	Aplasia/hypoplasia of the femur	91252	SLC39A13	OMIM:612350
HP:0005613	Aplasia/hypoplasia of the femur	3549	IHH	OMIM:607778
HP:0005613	Aplasia/hypoplasia of the femur	860	RUNX2	OMIM:119600
HP:0005613	Aplasia/hypoplasia of the femur	9742	IFT140	OMIM:266920
HP:0005613	Aplasia/hypoplasia of the femur	80169	CTC1	OMIM:612199
HP:0005613	Aplasia/hypoplasia of the femur	3930	LBR	OMIM:618019
HP:0005613	Aplasia/hypoplasia of the femur	25886	POC1A	OMIM:614813
HP:0005613	Aplasia/hypoplasia of the femur	5830	PEX5	OMIM:616716
HP:0006397	Lateral displacement of patellae	51715	RAB23	OMIM:201000
HP:0006398	Flat distal femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0009816	Lower limb undergrowth	2131	EXT1	ORPHA:321
HP:0009816	Lower limb undergrowth	2132	EXT2	ORPHA:321
HP:0009816	Lower limb undergrowth	1836	SLC26A2	ORPHA:56304
HP:0009816	Lower limb undergrowth	249	ALPL	OMIM:241500
HP:0009816	Lower limb undergrowth	2335	FN1	ORPHA:93315
HP:0009816	Lower limb undergrowth	1280	COL2A1	ORPHA:93315
HP:0009816	Lower limb undergrowth	23394	ADNP	OMIM:615873
HP:0009816	Lower limb undergrowth	5479	PPIB	OMIM:259440
HP:0009816	Lower limb undergrowth	4322	MMP13	OMIM:250400
HP:0009816	Lower limb undergrowth	4322	MMP13	ORPHA:93356
HP:0009816	Lower limb undergrowth	4322	MMP13	ORPHA:2501
HP:0009816	Lower limb undergrowth	3911	LAMA5	OMIM:620076
HP:0009816	Lower limb undergrowth	2767	GNA11	ORPHA:1556
HP:0009816	Lower limb undergrowth	151188	ARL6IP6	ORPHA:1556
HP:0009816	Lower limb undergrowth	9241	NOG	OMIM:186500
HP:0009816	Lower limb undergrowth	1147	CHUK	OMIM:613630
HP:0009816	Lower limb undergrowth	9060	PAPSS2	OMIM:612847
HP:0009816	Lower limb undergrowth	6473	SHOX	ORPHA:314795
HP:0032251	Abnormal immune system morphology	9015	TAF1A	ORPHA:154
HP:0032251	Abnormal immune system morphology	6389	SDHA	ORPHA:154
HP:0032251	Abnormal immune system morphology	7112	TMPO	ORPHA:154
HP:0032251	Abnormal immune system morphology	9464	HAND2	ORPHA:154
HP:0032251	Abnormal immune system morphology	4625	MYH7	ORPHA:154
HP:0032251	Abnormal immune system morphology	88	ACTN2	ORPHA:154
HP:0032251	Abnormal immune system morphology	10486	CAP2	ORPHA:154
HP:0032251	Abnormal immune system morphology	10060	ABCC9	ORPHA:154
HP:0032251	Abnormal immune system morphology	7168	TPM1	ORPHA:154
HP:0032251	Abnormal immune system morphology	7414	VCL	ORPHA:154
HP:0032251	Abnormal immune system morphology	1832	DSP	ORPHA:154
HP:0032251	Abnormal immune system morphology	70	ACTC1	ORPHA:154
HP:0032251	Abnormal immune system morphology	27063	ANKRD1	ORPHA:154
HP:0032251	Abnormal immune system morphology	8048	CSRP3	ORPHA:154
HP:0032251	Abnormal immune system morphology	1410	CRYAB	ORPHA:154
HP:0032251	Abnormal immune system morphology	4000	LMNA	ORPHA:154
HP:0032251	Abnormal immune system morphology	7139	TNNT2	ORPHA:154
HP:0032251	Abnormal immune system morphology	1829	DSG2	ORPHA:154
HP:0032251	Abnormal immune system morphology	3910	LAMA4	ORPHA:154
HP:0032251	Abnormal immune system morphology	63976	PRDM16	ORPHA:154
HP:0032251	Abnormal immune system morphology	7273	TTN	ORPHA:154
HP:0032251	Abnormal immune system morphology	10587	TXNRD2	ORPHA:154
HP:0032251	Abnormal immune system morphology	9531	BAG3	ORPHA:154
HP:0032251	Abnormal immune system morphology	5350	PLN	ORPHA:154
HP:0032251	Abnormal immune system morphology	91624	NEXN	ORPHA:154
HP:0032251	Abnormal immune system morphology	79717	PPCS	ORPHA:154
HP:0032251	Abnormal immune system morphology	5664	PSEN2	ORPHA:154
HP:0032251	Abnormal immune system morphology	4624	MYH6	ORPHA:154
HP:0032251	Abnormal immune system morphology	9529	BAG5	ORPHA:154
HP:0032251	Abnormal immune system morphology	4607	MYBPC3	ORPHA:154
HP:0032251	Abnormal immune system morphology	282996	RBM20	ORPHA:154
HP:0032251	Abnormal immune system morphology	7137	TNNI3	ORPHA:154
HP:0032251	Abnormal immune system morphology	11155	LDB3	ORPHA:154
HP:0032251	Abnormal immune system morphology	2274	FHL2	ORPHA:154
HP:0032251	Abnormal immune system morphology	22845	DOLK	ORPHA:154
HP:0032251	Abnormal immune system morphology	5894	RAF1	ORPHA:154
HP:0032251	Abnormal immune system morphology	1756	DMD	ORPHA:154
HP:0032251	Abnormal immune system morphology	57798	GATAD1	ORPHA:154
HP:0032251	Abnormal immune system morphology	7134	TNNC1	ORPHA:154
HP:0032251	Abnormal immune system morphology	84665	MYPN	ORPHA:154
HP:0032251	Abnormal immune system morphology	1674	DES	ORPHA:154
HP:0032251	Abnormal immune system morphology	6444	SGCD	ORPHA:154
HP:0032251	Abnormal immune system morphology	6331	SCN5A	ORPHA:154
HP:0032251	Abnormal immune system morphology	2218	FKTN	ORPHA:154
HP:0032251	Abnormal immune system morphology	8557	TCAP	ORPHA:154
HP:0032251	Abnormal immune system morphology	3106	HLA-B	ORPHA:36426
HP:0032251	Abnormal immune system morphology	80169	CTC1	ORPHA:1775
HP:0032251	Abnormal immune system morphology	55651	NHP2	ORPHA:1775
HP:0032251	Abnormal immune system morphology	55135	WRAP53	ORPHA:1775
HP:0032251	Abnormal immune system morphology	55505	NOP10	ORPHA:1775
HP:0032251	Abnormal immune system morphology	7298	TYMS	ORPHA:1775
HP:0032251	Abnormal immune system morphology	26235	FBXL4	OMIM:615471
HP:0032251	Abnormal immune system morphology	23241	PACS2	OMIM:618067
HP:0032251	Abnormal immune system morphology	959	CD40LG	OMIM:308230
HP:0032251	Abnormal immune system morphology	10559	SLC35A1	ORPHA:238459
HP:0032251	Abnormal immune system morphology	10559	SLC35A1	OMIM:603585
HP:0032251	Abnormal immune system morphology	4552	MTRR	ORPHA:2169
HP:0032251	Abnormal immune system morphology	55788	LMBRD1	OMIM:277380
HP:0032251	Abnormal immune system morphology	55788	LMBRD1	ORPHA:79284
HP:0032251	Abnormal immune system morphology	2122	MECOM	OMIM:616738
HP:0032251	Abnormal immune system morphology	2530	FUT8	OMIM:618005
HP:0032251	Abnormal immune system morphology	7037	TFRC	OMIM:616740
HP:0032251	Abnormal immune system morphology	816	CAMK2B	OMIM:617799
HP:0032251	Abnormal immune system morphology	28956	LAMTOR2	ORPHA:90023
HP:0032251	Abnormal immune system morphology	28956	LAMTOR2	OMIM:610798
HP:0032251	Abnormal immune system morphology	5095	PCCA	OMIM:606054
HP:0032251	Abnormal immune system morphology	5096	PCCB	OMIM:606054
HP:0032251	Abnormal immune system morphology	112812	FDX2	OMIM:251900
HP:0032251	Abnormal immune system morphology	958	CD40	OMIM:606843
HP:0032251	Abnormal immune system morphology	4700	NDUFA6	OMIM:618253
HP:0032251	Abnormal immune system morphology	5826	ABCD4	OMIM:614857
HP:0032251	Abnormal immune system morphology	326625	MMAB	OMIM:251110
HP:0032251	Abnormal immune system morphology	2328	FMO3	OMIM:602079
HP:0032251	Abnormal immune system morphology	8943	AP3D1	OMIM:617050
HP:0032251	Abnormal immune system morphology	29927	SEC61A1	OMIM:617056
HP:0032251	Abnormal immune system morphology	4796	TONSL	ORPHA:93357
HP:0032251	Abnormal immune system morphology	4796	TONSL	OMIM:271510
HP:0032251	Abnormal immune system morphology	166785	MMAA	OMIM:251100
HP:0032251	Abnormal immune system morphology	25839	COG4	OMIM:618150
HP:0032251	Abnormal immune system morphology	150274	HSCB	OMIM:619523
HP:0032251	Abnormal immune system morphology	2937	GSS	OMIM:266130
HP:0032251	Abnormal immune system morphology	84522	JAGN1	OMIM:616022
HP:0032251	Abnormal immune system morphology	25974	MMACHC	ORPHA:79282
HP:0032251	Abnormal immune system morphology	25974	MMACHC	OMIM:277400
HP:0032251	Abnormal immune system morphology	51567	TDP2	OMIM:616949
HP:0032251	Abnormal immune system morphology	833	CARS1	ORPHA:33364
HP:0032251	Abnormal immune system morphology	2068	ERCC2	ORPHA:33364
HP:0032251	Abnormal immune system morphology	7737	RNF113A	ORPHA:33364
HP:0032251	Abnormal immune system morphology	136647	MPLKIP	ORPHA:33364
HP:0032251	Abnormal immune system morphology	6897	TARS1	ORPHA:33364
HP:0032251	Abnormal immune system morphology	2071	ERCC3	ORPHA:33364
HP:0032251	Abnormal immune system morphology	2961	GTF2E2	ORPHA:33364
HP:0032251	Abnormal immune system morphology	27429	HTRA2	OMIM:617248
HP:0032251	Abnormal immune system morphology	55294	FBXW7	OMIM:620012
HP:0032251	Abnormal immune system morphology	5052	PRDX1	OMIM:277400
HP:0032251	Abnormal immune system morphology	56262	LRRC8A	ORPHA:33110
HP:0032251	Abnormal immune system morphology	30009	TBX21	OMIM:619630
HP:0032251	Abnormal immune system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0032251	Abnormal immune system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0032251	Abnormal immune system morphology	825	CAPN3	OMIM:253600
HP:0032251	Abnormal immune system morphology	113235	SLC46A1	ORPHA:90045
HP:0032251	Abnormal immune system morphology	1041	CDSN	OMIM:270300
HP:0032251	Abnormal immune system morphology	6720	SREBF1	OMIM:158310
HP:0032251	Abnormal immune system morphology	3716	JAK1	OMIM:618999
HP:0032251	Abnormal immune system morphology	10999	SLC27A4	ORPHA:88621
HP:0032251	Abnormal immune system morphology	1186	CLCN7	ORPHA:53
HP:0032251	Abnormal immune system morphology	51750	RTEL1	ORPHA:3322
HP:0032251	Abnormal immune system morphology	65057	ACD	ORPHA:3322
HP:0032251	Abnormal immune system morphology	5073	PARN	ORPHA:3322
HP:0032251	Abnormal immune system morphology	6916	TBXAS1	OMIM:231095
HP:0032251	Abnormal immune system morphology	375748	ERCC6L2	OMIM:615715
HP:0032251	Abnormal immune system morphology	55719	SLF2	OMIM:620184
HP:0032251	Abnormal immune system morphology	79650	USB1	OMIM:604173
HP:0032251	Abnormal immune system morphology	55593	OTUD5	OMIM:301056
HP:0032251	Abnormal immune system morphology	374879	ZNF699	OMIM:619488
HP:0032251	Abnormal immune system morphology	11311	VPS45	OMIM:615285
HP:0032251	Abnormal immune system morphology	65082	VPS33A	OMIM:617303
HP:0032251	Abnormal immune system morphology	65082	VPS33A	ORPHA:505248
HP:0032251	Abnormal immune system morphology	3516	RBPJ	ORPHA:974
HP:0032251	Abnormal immune system morphology	4851	NOTCH1	ORPHA:974
HP:0032251	Abnormal immune system morphology	57514	ARHGAP31	ORPHA:974
HP:0032251	Abnormal immune system morphology	57572	DOCK6	ORPHA:974
HP:0032251	Abnormal immune system morphology	285203	EOGT	ORPHA:974
HP:0032251	Abnormal immune system morphology	54567	DLL4	ORPHA:974
HP:0032251	Abnormal immune system morphology	2188	FANCF	OMIM:603467
HP:0032251	Abnormal immune system morphology	2188	FANCF	ORPHA:84
HP:0032251	Abnormal immune system morphology	537	ATP6AP1	OMIM:300972
HP:0032251	Abnormal immune system morphology	10459	MAD2L2	ORPHA:84
HP:0032251	Abnormal immune system morphology	7516	XRCC2	ORPHA:84
HP:0032251	Abnormal immune system morphology	55120	FANCL	ORPHA:84
HP:0032251	Abnormal immune system morphology	2187	FANCB	ORPHA:84
HP:0032251	Abnormal immune system morphology	5888	RAD51	ORPHA:84
HP:0032251	Abnormal immune system morphology	5889	RAD51C	ORPHA:84
HP:0032251	Abnormal immune system morphology	55159	RFWD3	ORPHA:84
HP:0032251	Abnormal immune system morphology	83990	BRIP1	ORPHA:84
HP:0032251	Abnormal immune system morphology	57697	FANCM	ORPHA:84
HP:0032251	Abnormal immune system morphology	84464	SLX4	ORPHA:84
HP:0032251	Abnormal immune system morphology	2072	ERCC4	ORPHA:84
HP:0032251	Abnormal immune system morphology	55215	FANCI	ORPHA:84
HP:0032251	Abnormal immune system morphology	4594	MMUT	OMIM:251000
HP:0032251	Abnormal immune system morphology	23479	ISCU	OMIM:255125
HP:0032251	Abnormal immune system morphology	157680	VPS13B	OMIM:216550
HP:0032251	Abnormal immune system morphology	5277	PIGA	ORPHA:447
HP:0032251	Abnormal immune system morphology	3712	IVD	OMIM:243500
HP:0032251	Abnormal immune system morphology	26258	BLOC1S6	OMIM:614171
HP:0032251	Abnormal immune system morphology	2212	FCGR2A	OMIM:152700
HP:0032251	Abnormal immune system morphology	2213	FCGR2B	OMIM:152700
HP:0032251	Abnormal immune system morphology	1773	DNASE1	OMIM:152700
HP:0032251	Abnormal immune system morphology	54938	SARS2	OMIM:613845
HP:0032251	Abnormal immune system morphology	7390	UROS	ORPHA:79277
HP:0032251	Abnormal immune system morphology	760	CA2	ORPHA:2785
HP:0032251	Abnormal immune system morphology	2629	GBA1	ORPHA:77259
HP:0032251	Abnormal immune system morphology	950	SCARB2	ORPHA:77259
HP:0032251	Abnormal immune system morphology	5728	PTEN	OMIM:605309
HP:0032251	Abnormal immune system morphology	5728	PTEN	OMIM:158350
HP:0032251	Abnormal immune system morphology	54892	NCAPG2	OMIM:618460
HP:0032251	Abnormal immune system morphology	22800	RRAS2	OMIM:618624
HP:0032251	Abnormal immune system morphology	6775	STAT4	ORPHA:93552
HP:0032251	Abnormal immune system morphology	6696	SPP1	ORPHA:93552
HP:0032251	Abnormal immune system morphology	3654	IRAK1	ORPHA:93552
HP:0032251	Abnormal immune system morphology	11151	CORO1A	OMIM:615401
HP:0032251	Abnormal immune system morphology	26277	TINF2	OMIM:127550
HP:0032251	Abnormal immune system morphology	3930	LBR	OMIM:613471
HP:0032251	Abnormal immune system morphology	7128	TNFAIP3	OMIM:616744
HP:0032251	Abnormal immune system morphology	340061	STING1	OMIM:615934
HP:0032251	Abnormal immune system morphology	4478	MSN	OMIM:300988
HP:0032251	Abnormal immune system morphology	3070	HELLS	ORPHA:2268
HP:0032251	Abnormal immune system morphology	83879	CDCA7	ORPHA:2268
HP:0032251	Abnormal immune system morphology	4790	NFKB1	ORPHA:1572
HP:0032251	Abnormal immune system morphology	8742	TNFSF12	ORPHA:1572
HP:0032251	Abnormal immune system morphology	200734	SPRED2	OMIM:619745
HP:0032251	Abnormal immune system morphology	8883	NAE1	OMIM:620210
HP:0032251	Abnormal immune system morphology	80185	TTI2	ORPHA:391307
HP:0032251	Abnormal immune system morphology	54809	SAMD9	OMIM:617053
HP:0032251	Abnormal immune system morphology	8879	SGPL1	OMIM:617575
HP:0032251	Abnormal immune system morphology	9508	ADAMTS3	ORPHA:2136
HP:0032251	Abnormal immune system morphology	147372	CCBE1	ORPHA:2136
HP:0032251	Abnormal immune system morphology	79633	FAT4	ORPHA:2136
HP:0032251	Abnormal immune system morphology	6789	STK4	OMIM:614868
HP:0032251	Abnormal immune system morphology	7036	TFR2	OMIM:604250
HP:0032251	Abnormal immune system morphology	51284	TLR7	OMIM:301080
HP:0032251	Abnormal immune system morphology	6948	TCN2	ORPHA:859
HP:0032251	Abnormal immune system morphology	64135	IFIH1	OMIM:619773
HP:0032251	Abnormal immune system morphology	5692	PSMB4	OMIM:617591
HP:0032251	Abnormal immune system morphology	5698	PSMB9	OMIM:617591
HP:0032251	Abnormal immune system morphology	4194	MDM4	OMIM:618849
HP:0032251	Abnormal immune system morphology	404672	GTF2H5	OMIM:616395
HP:0032251	Abnormal immune system morphology	9652	SKIC3	ORPHA:84064
HP:0032251	Abnormal immune system morphology	6499	SKIC2	ORPHA:84064
HP:0032251	Abnormal immune system morphology	2215	FCGR3B	ORPHA:464370
HP:0032251	Abnormal immune system morphology	7174	TPP2	OMIM:619220
HP:0032251	Abnormal immune system morphology	4860	PNP	OMIM:613179
HP:0032251	Abnormal immune system morphology	83737	ITCH	ORPHA:228426
HP:0032251	Abnormal immune system morphology	2177	FANCD2	OMIM:227646
HP:0032251	Abnormal immune system morphology	2176	FANCC	OMIM:227645
HP:0032251	Abnormal immune system morphology	2189	FANCG	OMIM:614082
HP:0032251	Abnormal immune system morphology	8294	H4C9	OMIM:619951
HP:0032251	Abnormal immune system morphology	25913	POT1	OMIM:616568
HP:0032251	Abnormal immune system morphology	6335	SCN9A	ORPHA:90026
HP:0032251	Abnormal immune system morphology	11280	SCN11A	ORPHA:90026
HP:0032251	Abnormal immune system morphology	6336	SCN10A	ORPHA:90026
HP:0032251	Abnormal immune system morphology	1387	CREBBP	OMIM:180849
HP:0032251	Abnormal immune system morphology	2033	EP300	OMIM:180849
HP:0032251	Abnormal immune system morphology	9401	RECQL4	ORPHA:221016
HP:0032251	Abnormal immune system morphology	7012	TERC	OMIM:614743
HP:0032251	Abnormal immune system morphology	324	APC	ORPHA:99818
HP:0032251	Abnormal immune system morphology	2065	ERBB3	OMIM:133180
HP:0032251	Abnormal immune system morphology	5925	RB1	OMIM:180200
HP:0032251	Abnormal immune system morphology	4292	MLH1	OMIM:276300
HP:0032251	Abnormal immune system morphology	5290	PIK3CA	OMIM:602501
HP:0032251	Abnormal immune system morphology	2178	FANCE	OMIM:600901
HP:0032251	Abnormal immune system morphology	2175	FANCA	OMIM:227650
HP:0032251	Abnormal immune system morphology	3832	KIF11	ORPHA:2526
HP:0032251	Abnormal immune system morphology	8216	LZTR1	OMIM:605275
HP:0032251	Abnormal immune system morphology	23476	BRD4	ORPHA:443167
HP:0032251	Abnormal immune system morphology	256646	NUTM1	ORPHA:443167
HP:0032251	Abnormal immune system morphology	64682	ANAPC1	ORPHA:221008
HP:0032251	Abnormal immune system morphology	51099	ABHD5	ORPHA:98907
HP:0032251	Abnormal immune system morphology	6901	TAFAZZIN	OMIM:302060
HP:0032251	Abnormal immune system morphology	6234	RPS28	OMIM:606164
HP:0032251	Abnormal immune system morphology	26503	SLC17A5	OMIM:604369
HP:0032251	Abnormal immune system morphology	26503	SLC17A5	OMIM:269920
HP:0032251	Abnormal immune system morphology	57104	PNPLA2	ORPHA:565612
HP:0032251	Abnormal immune system morphology	4125	MAN2B1	OMIM:248500
HP:0032251	Abnormal immune system morphology	5538	PPT1	OMIM:256730
HP:0032251	Abnormal immune system morphology	2517	FUCA1	OMIM:230000
HP:0032251	Abnormal immune system morphology	1203	CLN5	OMIM:256731
HP:0032251	Abnormal immune system morphology	1201	CLN3	OMIM:204200
HP:0032251	Abnormal immune system morphology	1201	CLN3	ORPHA:228346
HP:0032251	Abnormal immune system morphology	175	AGA	OMIM:208400
HP:0032251	Abnormal immune system morphology	3689	ITGB2	OMIM:116920
HP:0032251	Abnormal immune system morphology	3155	HMGCL	ORPHA:20
HP:0032251	Abnormal immune system morphology	27178	IL37	OMIM:619398
HP:0032251	Abnormal immune system morphology	8573	CASK	OMIM:300908
HP:0032251	Abnormal immune system morphology	2539	G6PD	OMIM:300908
HP:0032251	Abnormal immune system morphology	811	CALR	ORPHA:824
HP:0032251	Abnormal immune system morphology	4352	MPL	ORPHA:824
HP:0032251	Abnormal immune system morphology	3717	JAK2	ORPHA:824
HP:0032251	Abnormal immune system morphology	3717	JAK2	OMIM:263300
HP:0032251	Abnormal immune system morphology	7518	XRCC4	ORPHA:99812
HP:0032251	Abnormal immune system morphology	5314	PKHD1	ORPHA:53035
HP:0032251	Abnormal immune system morphology	23451	SF3B1	ORPHA:75564
HP:0032251	Abnormal immune system morphology	8882	ZPR1	OMIM:619321
HP:0032251	Abnormal immune system morphology	3459	IFNGR1	OMIM:209950
HP:0032251	Abnormal immune system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0032251	Abnormal immune system morphology	9663	LPIN2	ORPHA:77297
HP:0032251	Abnormal immune system morphology	84196	USP48	ORPHA:96253
HP:0032251	Abnormal immune system morphology	7157	TP53	ORPHA:96253
HP:0032251	Abnormal immune system morphology	9101	USP8	ORPHA:96253
HP:0032251	Abnormal immune system morphology	64072	CDH23	ORPHA:96253
HP:0032251	Abnormal immune system morphology	2908	NR3C1	ORPHA:96253
HP:0032251	Abnormal immune system morphology	673	BRAF	ORPHA:96253
HP:0032251	Abnormal immune system morphology	546	ATRX	ORPHA:96253
HP:0032251	Abnormal immune system morphology	3043	HBB	OMIM:603903
HP:0032251	Abnormal immune system morphology	3043	HBB	ORPHA:232
HP:0032251	Abnormal immune system morphology	3043	HBB	ORPHA:231222
HP:0032251	Abnormal immune system morphology	10616	RBCK1	OMIM:615895
HP:0032251	Abnormal immune system morphology	6773	STAT2	OMIM:618886
HP:0032251	Abnormal immune system morphology	22852	ANKRD26	OMIM:188000
HP:0032251	Abnormal immune system morphology	114548	NLRP3	ORPHA:1451
HP:0032251	Abnormal immune system morphology	114548	NLRP3	OMIM:191900
HP:0032251	Abnormal immune system morphology	114548	NLRP3	OMIM:607115
HP:0032251	Abnormal immune system morphology	114548	NLRP3	OMIM:120100
HP:0032251	Abnormal immune system morphology	57167	SALL4	ORPHA:2307
HP:0032251	Abnormal immune system morphology	57167	SALL4	OMIM:147750
HP:0032251	Abnormal immune system morphology	11330	CTRC	ORPHA:676
HP:0032251	Abnormal immune system morphology	5644	PRSS1	ORPHA:676
HP:0032251	Abnormal immune system morphology	5645	PRSS2	ORPHA:676
HP:0032251	Abnormal immune system morphology	6690	SPINK1	ORPHA:676
HP:0032251	Abnormal immune system morphology	846	CASR	ORPHA:676
HP:0032251	Abnormal immune system morphology	1080	CFTR	ORPHA:676
HP:0032251	Abnormal immune system morphology	1357	CPA1	ORPHA:676
HP:0032251	Abnormal immune system morphology	10367	MICU1	OMIM:615673
HP:0032251	Abnormal immune system morphology	83706	FERMT3	OMIM:612840
HP:0032251	Abnormal immune system morphology	374354	NHLRC2	OMIM:618278
HP:0032251	Abnormal immune system morphology	144811	LACC1	OMIM:618795
HP:0032251	Abnormal immune system morphology	51816	ADA2	OMIM:615688
HP:0032251	Abnormal immune system morphology	91662	NLRP12	OMIM:611762
HP:0032251	Abnormal immune system morphology	10551	AGR2	OMIM:620233
HP:0032251	Abnormal immune system morphology	38	ACAT1	ORPHA:134
HP:0032251	Abnormal immune system morphology	5966	REL	OMIM:619652
HP:0032251	Abnormal immune system morphology	4938	OAS1	OMIM:618042
HP:0032251	Abnormal immune system morphology	3458	IFNG	OMIM:618963
HP:0032251	Abnormal immune system morphology	9939	RBM8A	OMIM:274000
HP:0032251	Abnormal immune system morphology	28962	OSTM1	OMIM:259720
HP:0032251	Abnormal immune system morphology	613	BCR	ORPHA:521
HP:0032251	Abnormal immune system morphology	25	ABL1	ORPHA:521
HP:0032251	Abnormal immune system morphology	6774	STAT3	ORPHA:520
HP:0032251	Abnormal immune system morphology	5371	PML	ORPHA:520
HP:0032251	Abnormal immune system morphology	5914	RARA	ORPHA:520
HP:0032251	Abnormal immune system morphology	359948	IRF2BP2	ORPHA:520
HP:0032251	Abnormal immune system morphology	81608	FIP1L1	ORPHA:520
HP:0032251	Abnormal immune system morphology	4869	NPM1	ORPHA:520
HP:0032251	Abnormal immune system morphology	5573	PRKAR1A	ORPHA:520
HP:0032251	Abnormal immune system morphology	54880	BCOR	ORPHA:520
HP:0032251	Abnormal immune system morphology	64859	NABP1	ORPHA:520
HP:0032251	Abnormal immune system morphology	6777	STAT5B	ORPHA:520
HP:0032251	Abnormal immune system morphology	4926	NUMA1	ORPHA:520
HP:0032251	Abnormal immune system morphology	7704	ZBTB16	ORPHA:520
HP:0032251	Abnormal immune system morphology	79718	TBL1XR1	ORPHA:520
HP:0032251	Abnormal immune system morphology	7040	TGFB1	OMIM:618213
HP:0032251	Abnormal immune system morphology	8517	IKBKG	OMIM:308300
HP:0032251	Abnormal immune system morphology	6609	SMPD1	OMIM:607616
HP:0032251	Abnormal immune system morphology	6609	SMPD1	OMIM:257200
HP:0032251	Abnormal immune system morphology	10577	NPC2	OMIM:607625
HP:0032251	Abnormal immune system morphology	2720	GLB1	OMIM:230600
HP:0032251	Abnormal immune system morphology	348	APOE	ORPHA:158029
HP:0032251	Abnormal immune system morphology	348	APOE	OMIM:269600
HP:0032251	Abnormal immune system morphology	4864	NPC1	OMIM:257220
HP:0032251	Abnormal immune system morphology	5566	PRKACA	ORPHA:289
HP:0032251	Abnormal immune system morphology	5567	PRKACB	ORPHA:289
HP:0032251	Abnormal immune system morphology	2735	GLI1	ORPHA:289
HP:0032251	Abnormal immune system morphology	2121	EVC	ORPHA:289
HP:0032251	Abnormal immune system morphology	51626	DYNC2LI1	ORPHA:289
HP:0032251	Abnormal immune system morphology	132884	EVC2	ORPHA:289
HP:0032251	Abnormal immune system morphology	10019	SH2B3	ORPHA:3318
HP:0032251	Abnormal immune system morphology	412	STS	ORPHA:281090
HP:0032251	Abnormal immune system morphology	7305	TYROBP	ORPHA:2770
HP:0032251	Abnormal immune system morphology	54209	TREM2	ORPHA:2770
HP:0032251	Abnormal immune system morphology	4683	NBN	ORPHA:647
HP:0032251	Abnormal immune system morphology	9487	PIGL	ORPHA:3474
HP:0032251	Abnormal immune system morphology	29760	BLNK	OMIM:613502
HP:0032251	Abnormal immune system morphology	26191	PTPN22	ORPHA:900
HP:0032251	Abnormal immune system morphology	5657	PRTN3	ORPHA:900
HP:0032251	Abnormal immune system morphology	3113	HLA-DPA1	ORPHA:900
HP:0032251	Abnormal immune system morphology	4688	NCF2	OMIM:233710
HP:0032251	Abnormal immune system morphology	653361	NCF1	OMIM:233700
HP:0032251	Abnormal immune system morphology	84888	SPPL2A	OMIM:619549
HP:0032251	Abnormal immune system morphology	1535	CYBA	OMIM:233690
HP:0032251	Abnormal immune system morphology	4247	MGAT2	ORPHA:79329
HP:0032251	Abnormal immune system morphology	6772	STAT1	OMIM:614162
HP:0032251	Abnormal immune system morphology	3718	JAK3	OMIM:600802
HP:0032251	Abnormal immune system morphology	3718	JAK3	ORPHA:35078
HP:0032251	Abnormal immune system morphology	57217	TTC7A	OMIM:243150
HP:0032251	Abnormal immune system morphology	55388	MCM10	OMIM:619313
HP:0032251	Abnormal immune system morphology	4615	MYD88	OMIM:153600
HP:0032251	Abnormal immune system morphology	5788	PTPRC	OMIM:619924
HP:0032251	Abnormal immune system morphology	6023	RMRP	OMIM:250250
HP:0032251	Abnormal immune system morphology	7535	ZAP70	OMIM:617006
HP:0032251	Abnormal immune system morphology	64919	BCL11B	OMIM:617237
HP:0032251	Abnormal immune system morphology	200942	KLHDC8B	OMIM:236000
HP:0032251	Abnormal immune system morphology	6445	SGCG	ORPHA:353
HP:0032251	Abnormal immune system morphology	219285	SAMD9L	ORPHA:2585
HP:0032251	Abnormal immune system morphology	23495	TNFRSF13B	OMIM:609529
HP:0032251	Abnormal immune system morphology	1493	CTLA4	ORPHA:3162
HP:0032251	Abnormal immune system morphology	1493	CTLA4	ORPHA:2584
HP:0032251	Abnormal immune system morphology	940	CD28	ORPHA:3162
HP:0032251	Abnormal immune system morphology	940	CD28	ORPHA:2584
HP:0032251	Abnormal immune system morphology	7133	TNFRSF1B	ORPHA:3162
HP:0032251	Abnormal immune system morphology	7133	TNFRSF1B	ORPHA:2584
HP:0032251	Abnormal immune system morphology	23765	IL17RA	OMIM:613953
HP:0032251	Abnormal immune system morphology	4791	NFKB2	ORPHA:293978
HP:0032251	Abnormal immune system morphology	55636	CHD7	ORPHA:39041
HP:0032251	Abnormal immune system morphology	3981	LIG4	ORPHA:39041
HP:0032251	Abnormal immune system morphology	5896	RAG1	ORPHA:39041
HP:0032251	Abnormal immune system morphology	5897	RAG2	ORPHA:39041
HP:0032251	Abnormal immune system morphology	64421	DCLRE1C	ORPHA:39041
HP:0032251	Abnormal immune system morphology	100	ADA	ORPHA:39041
HP:0032251	Abnormal immune system morphology	3988	LIPA	OMIM:278000
HP:0032251	Abnormal immune system morphology	3988	LIPA	ORPHA:75233
HP:0032251	Abnormal immune system morphology	4758	NEU1	OMIM:256550
HP:0032251	Abnormal immune system morphology	128	ADH5	OMIM:619151
HP:0032251	Abnormal immune system morphology	26511	CHIC2	OMIM:601626
HP:0032251	Abnormal immune system morphology	1050	CEBPA	OMIM:601626
HP:0032251	Abnormal immune system morphology	6455	SH3GL1	OMIM:601626
HP:0032251	Abnormal immune system morphology	8028	MLLT10	OMIM:601626
HP:0032251	Abnormal immune system morphology	8301	PICALM	OMIM:601626
HP:0032251	Abnormal immune system morphology	4026	LPP	OMIM:601626
HP:0032251	Abnormal immune system morphology	8930	MBD4	OMIM:619975
HP:0032251	Abnormal immune system morphology	1736	DKC1	OMIM:305000
HP:0032251	Abnormal immune system morphology	6135	RPL11	ORPHA:124
HP:0032251	Abnormal immune system morphology	6138	RPL15	ORPHA:124
HP:0032251	Abnormal immune system morphology	6229	RPS24	ORPHA:124
HP:0032251	Abnormal immune system morphology	6125	RPL5	ORPHA:124
HP:0032251	Abnormal immune system morphology	6204	RPS10	ORPHA:124
HP:0032251	Abnormal immune system morphology	6224	RPS20	ORPHA:124
HP:0032251	Abnormal immune system morphology	6165	RPL35A	ORPHA:124
HP:0032251	Abnormal immune system morphology	6223	RPS19	ORPHA:124
HP:0032251	Abnormal immune system morphology	6232	RPS27	ORPHA:124
HP:0032251	Abnormal immune system morphology	6231	RPS26	ORPHA:124
HP:0032251	Abnormal immune system morphology	11224	RPL35	ORPHA:124
HP:0032251	Abnormal immune system morphology	6160	RPL31	ORPHA:124
HP:0032251	Abnormal immune system morphology	6218	RPS17	ORPHA:124
HP:0032251	Abnormal immune system morphology	6201	RPS7	ORPHA:124
HP:0032251	Abnormal immune system morphology	6155	RPL27	ORPHA:124
HP:0032251	Abnormal immune system morphology	6154	RPL26	ORPHA:124
HP:0032251	Abnormal immune system morphology	6210	RPS15A	ORPHA:124
HP:0032251	Abnormal immune system morphology	90121	TSR2	ORPHA:124
HP:0032251	Abnormal immune system morphology	6141	RPL18	ORPHA:124
HP:0032251	Abnormal immune system morphology	6235	RPS29	ORPHA:124
HP:0032251	Abnormal immune system morphology	29089	UBE2T	OMIM:616435
HP:0032251	Abnormal immune system morphology	2120	ETV6	OMIM:616216
HP:0032251	Abnormal immune system morphology	3417	IDH1	ORPHA:99646
HP:0032251	Abnormal immune system morphology	10841	FTCD	OMIM:229100
HP:0032251	Abnormal immune system morphology	119559	SFXN4	OMIM:615578
HP:0032251	Abnormal immune system morphology	8029	CUBN	ORPHA:35858
HP:0032251	Abnormal immune system morphology	81693	AMN	ORPHA:35858
HP:0032251	Abnormal immune system morphology	6573	SLC19A1	OMIM:601775
HP:0032251	Abnormal immune system morphology	4522	MTHFD1	OMIM:617780
HP:0032251	Abnormal immune system morphology	161742	SPRED1	ORPHA:137605
HP:0032251	Abnormal immune system morphology	81839	VANGL1	OMIM:600145
HP:0032251	Abnormal immune system morphology	5557	PRIM1	OMIM:620005
HP:0032251	Abnormal immune system morphology	1789	DNMT3B	OMIM:242860
HP:0032251	Abnormal immune system morphology	695	BTK	OMIM:300755
HP:0032251	Abnormal immune system morphology	6909	TBX2	OMIM:618223
HP:0032251	Abnormal immune system morphology	8456	FOXN1	OMIM:601705
HP:0032251	Abnormal immune system morphology	8456	FOXN1	OMIM:618806
HP:0032251	Abnormal immune system morphology	8456	FOXN1	ORPHA:169095
HP:0032251	Abnormal immune system morphology	3574	IL7	OMIM:618309
HP:0032251	Abnormal immune system morphology	8737	RIPK1	OMIM:618108
HP:0032251	Abnormal immune system morphology	23149	FCHO1	OMIM:619164
HP:0032251	Abnormal immune system morphology	79840	NHEJ1	ORPHA:169079
HP:0032251	Abnormal immune system morphology	919	CD247	OMIM:610163
HP:0032251	Abnormal immune system morphology	3431	SP110	ORPHA:79124
HP:0032251	Abnormal immune system morphology	3071	NCKAP1L	OMIM:618982
HP:0032251	Abnormal immune system morphology	84433	CARD11	OMIM:616452
HP:0032251	Abnormal immune system morphology	2137	EXTL3	ORPHA:508533
HP:0032251	Abnormal immune system morphology	3561	IL2RG	ORPHA:276
HP:0032251	Abnormal immune system morphology	3561	IL2RG	OMIM:312863
HP:0032251	Abnormal immune system morphology	57724	EPG5	OMIM:242840
HP:0032251	Abnormal immune system morphology	7454	WAS	OMIM:301000
HP:0032251	Abnormal immune system morphology	84061	MAGT1	OMIM:300853
HP:0032251	Abnormal immune system morphology	10043	TOM1	OMIM:619510
HP:0032251	Abnormal immune system morphology	3702	ITK	OMIM:613011
HP:0032251	Abnormal immune system morphology	10625	IVNS1ABP	OMIM:618969
HP:0032251	Abnormal immune system morphology	3551	IKBKB	OMIM:618204
HP:0032251	Abnormal immune system morphology	3932	LCK	OMIM:615758
HP:0032251	Abnormal immune system morphology	54440	SASH3	OMIM:301082
HP:0032251	Abnormal immune system morphology	9094	UNC119	OMIM:615518
HP:0032251	Abnormal immune system morphology	90417	KNSTRN	ORPHA:221139
HP:0032251	Abnormal immune system morphology	4609	MYC	ORPHA:543
HP:0032251	Abnormal immune system morphology	3575	IL7R	ORPHA:169154
HP:0032251	Abnormal immune system morphology	81704	DOCK8	OMIM:243700
HP:0032251	Abnormal immune system morphology	56160	NSMCE3	OMIM:617241
HP:0032251	Abnormal immune system morphology	472	ATM	OMIM:208900
HP:0032251	Abnormal immune system morphology	3953	LEPR	ORPHA:179494
HP:0032251	Abnormal immune system morphology	3952	LEP	ORPHA:66628
HP:0032251	Abnormal immune system morphology	7456	WIPF1	OMIM:614493
HP:0032251	Abnormal immune system morphology	917	CD3G	OMIM:615607
HP:0032251	Abnormal immune system morphology	925	CD8A	OMIM:608957
HP:0032251	Abnormal immune system morphology	7066	THPO	ORPHA:71493
HP:0032251	Abnormal immune system morphology	1991	ELANE	OMIM:202700
HP:0032251	Abnormal immune system morphology	204	AK2	OMIM:267500
HP:0032251	Abnormal immune system morphology	210	ALAD	ORPHA:100924
HP:0032251	Abnormal immune system morphology	5159	PDGFRB	OMIM:131440
HP:0032251	Abnormal immune system morphology	5156	PDGFRA	OMIM:607685
HP:0032251	Abnormal immune system morphology	10535	RNASEH2A	ORPHA:51
HP:0032251	Abnormal immune system morphology	84153	RNASEH2C	ORPHA:51
HP:0032251	Abnormal immune system morphology	25939	SAMHD1	ORPHA:51
HP:0032251	Abnormal immune system morphology	103	ADAR	ORPHA:51
HP:0032251	Abnormal immune system morphology	11277	TREX1	ORPHA:51
HP:0032251	Abnormal immune system morphology	100147744	RNU7-1	ORPHA:51
HP:0032251	Abnormal immune system morphology	134353	LSM11	ORPHA:51
HP:0032251	Abnormal immune system morphology	10312	TCIRG1	ORPHA:486
HP:0032251	Abnormal immune system morphology	2672	GFI1	ORPHA:486
HP:0032251	Abnormal immune system morphology	54888	NSUN2	ORPHA:235
HP:0032251	Abnormal immune system morphology	9184	BUB3	ORPHA:1052
HP:0032251	Abnormal immune system morphology	699	BUB1	ORPHA:1052
HP:0032251	Abnormal immune system morphology	9702	CEP57	ORPHA:1052
HP:0032251	Abnormal immune system morphology	9319	TRIP13	ORPHA:1052
HP:0032251	Abnormal immune system morphology	701	BUB1B	ORPHA:1052
HP:0032251	Abnormal immune system morphology	581	BAX	OMIM:613065
HP:0032251	Abnormal immune system morphology	2322	FLT3	OMIM:613065
HP:0032251	Abnormal immune system morphology	2782	GNB1	OMIM:613065
HP:0032251	Abnormal immune system morphology	8021	NUP214	OMIM:613065
HP:0032251	Abnormal immune system morphology	6886	TAL1	OMIM:613065
HP:0032251	Abnormal immune system morphology	6887	TAL2	OMIM:613065
HP:0032251	Abnormal immune system morphology	10320	IKZF1	OMIM:616873
HP:0032251	Abnormal immune system morphology	10456	HAX1	OMIM:610738
HP:0032251	Abnormal immune system morphology	64324	NSD1	ORPHA:821
HP:0032251	Abnormal immune system morphology	29072	SETD2	ORPHA:821
HP:0032251	Abnormal immune system morphology	10297	APC2	ORPHA:821
HP:0032251	Abnormal immune system morphology	1029	CDKN2A	ORPHA:524
HP:0032251	Abnormal immune system morphology	4193	MDM2	ORPHA:524
HP:0032251	Abnormal immune system morphology	11200	CHEK2	ORPHA:524
HP:0032251	Abnormal immune system morphology	675	BRCA2	OMIM:605724
HP:0032251	Abnormal immune system morphology	675	BRCA2	OMIM:613029
HP:0032251	Abnormal immune system morphology	4436	MSH2	OMIM:619096
HP:0032251	Abnormal immune system morphology	1854	DUT	OMIM:620044
HP:0032251	Abnormal immune system morphology	2623	GATA1	OMIM:190685
HP:0032251	Abnormal immune system morphology	92579	G6PC3	OMIM:612541
HP:0032251	Abnormal immune system morphology	3587	IL10RA	OMIM:613148
HP:0032251	Abnormal immune system morphology	22806	IKZF3	OMIM:619437
HP:0032251	Abnormal immune system morphology	3588	IL10RB	OMIM:612567
HP:0032251	Abnormal immune system morphology	3110	MNX1	OMIM:176450
HP:0032251	Abnormal immune system morphology	51095	TRNT1	OMIM:616084
HP:0032251	Abnormal immune system morphology	9841	ZBTB24	OMIM:614069
HP:0032251	Abnormal immune system morphology	3507	IGHM	OMIM:601495
HP:0032251	Abnormal immune system morphology	114803	MYSM1	ORPHA:508542
HP:0032251	Abnormal immune system morphology	974	CD79B	OMIM:612692
HP:0032251	Abnormal immune system morphology	23250	ATP11A	OMIM:619851
HP:0032251	Abnormal immune system morphology	79087	ALG12	ORPHA:79324
HP:0032251	Abnormal immune system morphology	96459	FNIP1	OMIM:619705
HP:0032251	Abnormal immune system morphology	9138	ARHGEF1	OMIM:618459
HP:0032251	Abnormal immune system morphology	51594	NBAS	OMIM:614800
HP:0032251	Abnormal immune system morphology	10430	TMEM147	OMIM:620075
HP:0032251	Abnormal immune system morphology	975	CD81	OMIM:613496
HP:0032251	Abnormal immune system morphology	59067	IL21	OMIM:615767
HP:0032251	Abnormal immune system morphology	115650	TNFRSF13C	OMIM:240500
HP:0032251	Abnormal immune system morphology	115650	TNFRSF13C	OMIM:613494
HP:0032251	Abnormal immune system morphology	1380	CR2	OMIM:240500
HP:0032251	Abnormal immune system morphology	29851	ICOS	OMIM:240500
HP:0032251	Abnormal immune system morphology	29851	ICOS	OMIM:607594
HP:0032251	Abnormal immune system morphology	930	CD19	OMIM:240500
HP:0032251	Abnormal immune system morphology	930	CD19	OMIM:613493
HP:0032251	Abnormal immune system morphology	931	MS4A1	OMIM:613495
HP:0032251	Abnormal immune system morphology	2038	EPB42	OMIM:612690
HP:0032251	Abnormal immune system morphology	90268	OTULIN	OMIM:617099
HP:0032251	Abnormal immune system morphology	3394	IRF8	OMIM:226990
HP:0032251	Abnormal immune system morphology	4598	MVK	OMIM:260920
HP:0032251	Abnormal immune system morphology	26525	IL36RN	OMIM:614204
HP:0032251	Abnormal immune system morphology	4210	MEFV	ORPHA:3243
HP:0032251	Abnormal immune system morphology	4210	MEFV	OMIM:249100
HP:0032251	Abnormal immune system morphology	1441	CSF3R	OMIM:162830
HP:0032251	Abnormal immune system morphology	55343	SLC35C1	OMIM:266265
HP:0032251	Abnormal immune system morphology	55343	SLC35C1	ORPHA:99843
HP:0032251	Abnormal immune system morphology	5293	PIK3CD	OMIM:619281
HP:0032251	Abnormal immune system morphology	57169	ZNFX1	OMIM:619644
HP:0032251	Abnormal immune system morphology	5971	RELB	OMIM:617585
HP:0032251	Abnormal immune system morphology	3557	IL1RN	OMIM:612852
HP:0032251	Abnormal immune system morphology	5880	RAC2	OMIM:608203
HP:0032251	Abnormal immune system morphology	7187	TRAF3	ORPHA:1930
HP:0032251	Abnormal immune system morphology	81622	UNC93B1	ORPHA:1930
HP:0032251	Abnormal immune system morphology	148022	TICAM1	ORPHA:1930
HP:0032251	Abnormal immune system morphology	7098	TLR3	ORPHA:1930
HP:0032251	Abnormal immune system morphology	29110	TBK1	ORPHA:1930
HP:0032251	Abnormal immune system morphology	7852	CXCR4	ORPHA:51636
HP:0032251	Abnormal immune system morphology	6208	RPS14	ORPHA:86841
HP:0032251	Abnormal immune system morphology	1053	CEBPE	OMIM:245480
HP:0032251	Abnormal immune system morphology	2821	GPI	OMIM:613470
HP:0032251	Abnormal immune system morphology	9056	SLC7A7	ORPHA:470
HP:0032251	Abnormal immune system morphology	9056	SLC7A7	OMIM:222700
HP:0032251	Abnormal immune system morphology	201294	UNC13D	OMIM:608898
HP:0032251	Abnormal immune system morphology	201294	UNC13D	ORPHA:540
HP:0032251	Abnormal immune system morphology	5873	RAB27A	OMIM:607624
HP:0032251	Abnormal immune system morphology	5873	RAB27A	ORPHA:79477
HP:0032251	Abnormal immune system morphology	84868	HAVCR2	ORPHA:86884
HP:0032251	Abnormal immune system morphology	84868	HAVCR2	OMIM:618398
HP:0032251	Abnormal immune system morphology	51311	TLR8	OMIM:301078
HP:0032251	Abnormal immune system morphology	5551	PRF1	ORPHA:540
HP:0032251	Abnormal immune system morphology	5551	PRF1	OMIM:603553
HP:0032251	Abnormal immune system morphology	8676	STX11	ORPHA:540
HP:0032251	Abnormal immune system morphology	8676	STX11	OMIM:603552
HP:0032251	Abnormal immune system morphology	6813	STXBP2	ORPHA:540
HP:0032251	Abnormal immune system morphology	6813	STXBP2	OMIM:613101
HP:0032251	Abnormal immune system morphology	939	CD27	OMIM:615122
HP:0032251	Abnormal immune system morphology	5591	PRKDC	OMIM:615966
HP:0032251	Abnormal immune system morphology	916	CD3E	OMIM:615615
HP:0032251	Abnormal immune system morphology	915	CD3D	OMIM:615617
HP:0032251	Abnormal immune system morphology	23092	ARHGAP26	OMIM:607785
HP:0032251	Abnormal immune system morphology	5781	PTPN11	OMIM:607785
HP:0032251	Abnormal immune system morphology	5781	PTPN11	OMIM:163950
HP:0032251	Abnormal immune system morphology	5604	MAP2K1	OMIM:163950
HP:0032251	Abnormal immune system morphology	51428	DDX41	OMIM:616871
HP:0032251	Abnormal immune system morphology	2165	F13B	ORPHA:331
HP:0032251	Abnormal immune system morphology	2162	F13A1	ORPHA:331
HP:0032251	Abnormal immune system morphology	7015	TERT	OMIM:614742
HP:0032251	Abnormal immune system morphology	1788	DNMT3A	ORPHA:404443
HP:0032251	Abnormal immune system morphology	26040	SETBP1	ORPHA:798
HP:0032251	Abnormal immune system morphology	6603	SMARCD2	OMIM:617475
HP:0032251	Abnormal immune system morphology	56259	CTNNBL1	OMIM:619846
HP:0032251	Abnormal immune system morphology	9051	PSTPIP1	OMIM:604416
HP:0032251	Abnormal immune system morphology	4921	DDR2	OMIM:618175
HP:0032251	Abnormal immune system morphology	94	ACVRL1	OMIM:600376
HP:0032251	Abnormal immune system morphology	2022	ENG	OMIM:187300
HP:0032251	Abnormal immune system morphology	2261	FGFR3	OMIM:616482
HP:0032251	Abnormal immune system morphology	973	CD79A	OMIM:613501
HP:0032251	Abnormal immune system morphology	3543	IGLL1	OMIM:613500
HP:0032251	Abnormal immune system morphology	7922	SLC39A7	OMIM:619693
HP:0032251	Abnormal immune system morphology	60468	BACH2	OMIM:618394
HP:0032251	Abnormal immune system morphology	8651	SOCS1	OMIM:619375
HP:0032251	Abnormal immune system morphology	10525	HYOU1	OMIM:233600
HP:0032251	Abnormal immune system morphology	5336	PLCG2	OMIM:614878
HP:0032251	Abnormal immune system morphology	4914	NTRK1	ORPHA:642
HP:0032251	Abnormal immune system morphology	5251	PHEX	ORPHA:89936
HP:0032251	Abnormal immune system morphology	8074	FGF23	ORPHA:89937
HP:0032251	Abnormal immune system morphology	1758	DMP1	ORPHA:289176
HP:0032251	Abnormal immune system morphology	5167	ENPP1	ORPHA:289176
HP:0032251	Abnormal immune system morphology	1747	DLX3	ORPHA:3352
HP:0032251	Abnormal immune system morphology	84905	ZNF341	OMIM:618282
HP:0032251	Abnormal immune system morphology	219972	MPEG1	OMIM:619223
HP:0032251	Abnormal immune system morphology	3572	IL6ST	OMIM:619752
HP:0032251	Abnormal immune system morphology	146206	CARMIL2	OMIM:618131
HP:0032251	Abnormal immune system morphology	3570	IL6R	OMIM:618944
HP:0032251	Abnormal immune system morphology	3115	HLA-DPB1	ORPHA:133
HP:0032251	Abnormal immune system morphology	64170	CARD9	OMIM:212050
HP:0032251	Abnormal immune system morphology	355	FAS	ORPHA:3261
HP:0032251	Abnormal immune system morphology	356	FASLG	ORPHA:3261
HP:0032251	Abnormal immune system morphology	843	CASP10	ORPHA:3261
HP:0032251	Abnormal immune system morphology	641	BLM	ORPHA:125
HP:0032251	Abnormal immune system morphology	5238	PGM3	ORPHA:443811
HP:0032251	Abnormal immune system morphology	5994	RFXAP	ORPHA:572
HP:0032251	Abnormal immune system morphology	4261	CIITA	ORPHA:572
HP:0032251	Abnormal immune system morphology	5993	RFX5	ORPHA:572
HP:0032251	Abnormal immune system morphology	8625	RFXANK	ORPHA:572
HP:0032251	Abnormal immune system morphology	9948	WDR1	OMIM:150550
HP:0032251	Abnormal immune system morphology	6850	SYK	OMIM:619381
HP:0032251	Abnormal immune system morphology	50943	FOXP3	ORPHA:37042
HP:0032251	Abnormal immune system morphology	399	RHOH	OMIM:618307
HP:0032251	Abnormal immune system morphology	6117	RPA1	OMIM:619767
HP:0032251	Abnormal immune system morphology	79991	STN1	OMIM:617341
HP:0032251	Abnormal immune system morphology	29775	CARD10	OMIM:619632
HP:0032251	Abnormal immune system morphology	11005	SPINK5	OMIM:256500
HP:0032251	Abnormal immune system morphology	10526	IPO8	OMIM:619472
HP:0032251	Abnormal immune system morphology	28755	TRAC	OMIM:615387
HP:0032251	Abnormal immune system morphology	22861	NLRP1	OMIM:617388
HP:0032251	Abnormal immune system morphology	10159	ATP6AP2	OMIM:301045
HP:0032251	Abnormal immune system morphology	920	CD4	OMIM:619238
HP:0032251	Abnormal immune system morphology	1536	CYBB	OMIM:306400
HP:0032251	Abnormal immune system morphology	4763	NF1	ORPHA:363700
HP:0032251	Abnormal immune system morphology	1777	DNASE2	OMIM:619858
HP:0032251	Abnormal immune system morphology	79415	CYBC1	OMIM:618935
HP:0032251	Abnormal immune system morphology	5294	PIK3CG	OMIM:619802
HP:0032251	Abnormal immune system morphology	54	ACP5	ORPHA:1855
HP:0032251	Abnormal immune system morphology	1794	DOCK2	OMIM:616433
HP:0032251	Abnormal immune system morphology	1130	LYST	OMIM:214500
HP:0032251	Abnormal immune system morphology	5580	PRKCD	OMIM:615559
HP:0032251	Abnormal immune system morphology	10125	RASGRP1	OMIM:618534
HP:0032251	Abnormal immune system morphology	51371	POMP	OMIM:618048
HP:0032251	Abnormal immune system morphology	2624	GATA2	OMIM:614038
HP:0032251	Abnormal immune system morphology	1503	CTPS1	OMIM:615897
HP:0032251	Abnormal immune system morphology	841	CASP8	OMIM:607271
HP:0032251	Abnormal immune system morphology	3559	IL2RA	OMIM:606367
HP:0032251	Abnormal immune system morphology	8546	AP3B1	OMIM:608233
HP:0032251	Abnormal immune system morphology	50619	DEF6	OMIM:619573
HP:0032251	Abnormal immune system morphology	3560	IL2RB	OMIM:618495
HP:0032251	Abnormal immune system morphology	8288	EPX	OMIM:261500
HP:0032251	Abnormal immune system morphology	84876	ORAI1	OMIM:612782
HP:0032251	Abnormal immune system morphology	10892	MALT1	OMIM:615468
HP:0032251	Abnormal immune system morphology	6786	STIM1	OMIM:612783
HP:0032251	Abnormal immune system morphology	427	ASAH1	OMIM:228000
HP:0032251	Abnormal immune system morphology	970	CD70	OMIM:618261
HP:0032251	Abnormal immune system morphology	4173	MCM4	OMIM:609981
HP:0032251	Abnormal immune system morphology	58484	NLRC4	OMIM:616050
HP:0032251	Abnormal immune system morphology	567	B2M	OMIM:241600
HP:0032251	Abnormal immune system morphology	2214	FCGR3A	OMIM:615707
HP:0032251	Abnormal immune system morphology	64858	DCLRE1B	OMIM:620133
HP:0032251	Abnormal immune system morphology	9837	GINS1	OMIM:617827
HP:0032251	Abnormal immune system morphology	4627	MYH9	OMIM:155100
HP:0032251	Abnormal immune system morphology	5373	PMM2	ORPHA:79318
HP:0032251	Abnormal immune system morphology	340665	CYP26C1	ORPHA:398189
HP:0032251	Abnormal immune system morphology	171023	ASXL1	ORPHA:98850
HP:0032251	Abnormal immune system morphology	171023	ASXL1	ORPHA:98849
HP:0032251	Abnormal immune system morphology	54790	TET2	ORPHA:98850
HP:0032251	Abnormal immune system morphology	54790	TET2	ORPHA:98849
HP:0032251	Abnormal immune system morphology	867	CBL	ORPHA:98850
HP:0032251	Abnormal immune system morphology	861	RUNX1	ORPHA:98850
HP:0032251	Abnormal immune system morphology	6427	SRSF2	ORPHA:98850
HP:0032251	Abnormal immune system morphology	6427	SRSF2	ORPHA:98849
HP:0032251	Abnormal immune system morphology	3815	KIT	ORPHA:98849
HP:0032251	Abnormal immune system morphology	5244	ABCB4	ORPHA:69663
HP:0032251	Abnormal immune system morphology	3514	IGKC	ORPHA:183675
HP:0032251	Abnormal immune system morphology	3501	IGHG2	ORPHA:183675
HP:0032251	Abnormal immune system morphology	4689	NCF4	ORPHA:379
HP:0032251	Abnormal immune system morphology	672	BRCA1	ORPHA:1333
HP:0032251	Abnormal immune system morphology	285282	RABL3	ORPHA:1333
HP:0032251	Abnormal immune system morphology	79728	PALB2	ORPHA:1333
HP:0032251	Abnormal immune system morphology	4089	SMAD4	ORPHA:1333
HP:0032251	Abnormal immune system morphology	23022	PALLD	ORPHA:1333
HP:0032251	Abnormal immune system morphology	5297	PI4KA	ORPHA:436252
HP:0032251	Abnormal immune system morphology	55315	SLC29A3	OMIM:602782
HP:0032251	Abnormal immune system morphology	55315	SLC29A3	ORPHA:168569
HP:0032251	Abnormal immune system morphology	2859	GPR35	ORPHA:171
HP:0032251	Abnormal immune system morphology	10507	SEMA4D	ORPHA:171
HP:0032251	Abnormal immune system morphology	4485	MST1	ORPHA:171
HP:0032251	Abnormal immune system morphology	6925	TCF4	ORPHA:171
HP:0032251	Abnormal immune system morphology	2000	ELF4	OMIM:301074
HP:0032251	Abnormal immune system morphology	3845	KRAS	OMIM:614470
HP:0032251	Abnormal immune system morphology	4893	NRAS	OMIM:614470
HP:0032251	Abnormal immune system morphology	79621	RNASEH2B	OMIM:610181
HP:0032251	Abnormal immune system morphology	54914	FOCAD	OMIM:619991
HP:0032251	Abnormal immune system morphology	84823	LMNB2	ORPHA:79087
HP:0032251	Abnormal immune system morphology	10095	ARPC1B	OMIM:617718
HP:0032251	Abnormal immune system morphology	331	XIAP	OMIM:308240
HP:0032251	Abnormal immune system morphology	4068	SH2D1A	OMIM:308240
HP:0032251	Abnormal immune system morphology	9451	EIF2AK3	ORPHA:1667
HP:0032251	Abnormal immune system morphology	56244	BTNL2	ORPHA:797
HP:0032251	Abnormal immune system morphology	3123	HLA-DRB1	ORPHA:797
HP:0032251	Abnormal immune system morphology	10804	GJB6	ORPHA:477
HP:0032251	Abnormal immune system morphology	2706	GJB2	ORPHA:477
HP:0032251	Abnormal immune system morphology	3937	LCP2	OMIM:619374
HP:0032251	Abnormal immune system morphology	7319	UBE2A	ORPHA:163956
HP:0032251	Abnormal immune system morphology	55851	PSENEN	OMIM:613736
HP:0032251	Abnormal immune system morphology	5663	PSEN1	OMIM:613737
HP:0032251	Abnormal immune system morphology	1075	CTSC	ORPHA:678
HP:0032251	Abnormal immune system morphology	3579	CXCR2	OMIM:619407
HP:0032251	Abnormal immune system morphology	987	LRBA	OMIM:614700
HP:0032251	Abnormal immune system morphology	51645	PPIL1	OMIM:619301
HP:0032251	Abnormal immune system morphology	51362	CDC40	OMIM:619302
HP:0032251	Abnormal immune system morphology	2542	SLC37A4	ORPHA:79259
HP:0032251	Abnormal immune system morphology	9158	FIBP	OMIM:617107
HP:0032251	Abnormal immune system morphology	9158	FIBP	ORPHA:500095
HP:0032251	Abnormal immune system morphology	6688	SPI1	OMIM:619707
HP:0032251	Abnormal immune system morphology	51135	IRAK4	OMIM:607676
HP:0032251	Abnormal immune system morphology	134218	DNAJC21	ORPHA:811
HP:0032251	Abnormal immune system morphology	79631	EFL1	ORPHA:811
HP:0032251	Abnormal immune system morphology	51119	SBDS	ORPHA:811
HP:0032251	Abnormal immune system morphology	6729	SRP54	ORPHA:811
HP:0032251	Abnormal immune system morphology	81570	CLPB	ORPHA:445038
HP:0032251	Abnormal immune system morphology	50485	SMARCAL1	ORPHA:1830
HP:0032251	Abnormal immune system morphology	5295	PIK3R1	OMIM:616005
HP:0032251	Abnormal immune system morphology	8915	BCL10	OMIM:616098
HP:0032251	Abnormal immune system morphology	6929	TCF3	OMIM:619824
HP:0032251	Abnormal immune system morphology	27040	LAT	OMIM:617514
HP:0032251	Abnormal immune system morphology	3978	LIG1	OMIM:619774
HP:0032252	Granuloma	1536	CYBB	OMIM:306400
HP:0032252	Granuloma	4763	NF1	ORPHA:363700
HP:0032252	Granuloma	1777	DNASE2	OMIM:619858
HP:0032252	Granuloma	79415	CYBC1	OMIM:618935
HP:0032252	Granuloma	3394	IRF8	OMIM:614893
HP:0032252	Granuloma	5294	PIK3CG	OMIM:619802
HP:0032252	Granuloma	54	ACP5	ORPHA:1855
HP:0032252	Granuloma	1794	DOCK2	OMIM:616433
HP:0032253	Eosinophilic granuloma	1794	DOCK2	OMIM:616433
HP:0032254	Increased circulating copper concentration	540	ATP7B	OMIM:277900
HP:0032255	Opportunistic fungal infection	51311	TLR8	OMIM:301078
HP:0032255	Opportunistic fungal infection	9841	ZBTB24	OMIM:614069
HP:0032255	Opportunistic fungal infection	50615	IL21R	OMIM:615207
HP:0032255	Opportunistic fungal infection	84433	CARD11	OMIM:615206
HP:0032255	Opportunistic fungal infection	8517	IKBKG	OMIM:300636
HP:0032255	Opportunistic fungal infection	3594	IL12RB1	ORPHA:319552
HP:0032255	Opportunistic fungal infection	6772	STAT1	OMIM:614162
HP:0032255	Opportunistic fungal infection	5293	PIK3CD	OMIM:619281
HP:0032255	Opportunistic fungal infection	84818	IL17RC	OMIM:616445
HP:0032255	Opportunistic fungal infection	7040	TGFB1	OMIM:618213
HP:0032255	Opportunistic fungal infection	959	CD40LG	OMIM:308230
HP:0032256	Histoplasmosis	3594	IL12RB1	ORPHA:319552
HP:0032256	Histoplasmosis	6772	STAT1	OMIM:614162
HP:0032257	Disseminated histoplasmosis	6772	STAT1	OMIM:614162
HP:0032259	Chronic tinea infection	64170	CARD9	OMIM:212050
HP:0032260	Opportunistic bacterial infection	6804	STX1A	ORPHA:586
HP:0032260	Opportunistic bacterial infection	2947	GSTM3	ORPHA:586
HP:0032260	Opportunistic bacterial infection	7040	TGFB1	ORPHA:586
HP:0032260	Opportunistic bacterial infection	2729	GCLC	ORPHA:586
HP:0032260	Opportunistic bacterial infection	1084	CEACAM3	ORPHA:586
HP:0032260	Opportunistic bacterial infection	6556	SLC11A1	ORPHA:586
HP:0032260	Opportunistic bacterial infection	51164	DCTN4	ORPHA:586
HP:0032260	Opportunistic bacterial infection	3783	KCNN4	ORPHA:586
HP:0032260	Opportunistic bacterial infection	4282	MIF	ORPHA:586
HP:0032260	Opportunistic bacterial infection	1909	EDNRA	ORPHA:586
HP:0032260	Opportunistic bacterial infection	6550	SLC9A3	ORPHA:586
HP:0032260	Opportunistic bacterial infection	3162	HMOX1	ORPHA:586
HP:0032260	Opportunistic bacterial infection	115019	SLC26A9	ORPHA:586
HP:0032260	Opportunistic bacterial infection	3077	HFE	ORPHA:586
HP:0032260	Opportunistic bacterial infection	11254	SLC6A14	ORPHA:586
HP:0032260	Opportunistic bacterial infection	5265	SERPINA1	ORPHA:586
HP:0032260	Opportunistic bacterial infection	1080	CFTR	ORPHA:586
HP:0032260	Opportunistic bacterial infection	22802	CLCA4	ORPHA:586
HP:0032260	Opportunistic bacterial infection	4680	CEACAM6	ORPHA:586
HP:0032260	Opportunistic bacterial infection	219972	MPEG1	OMIM:619223
HP:0032260	Opportunistic bacterial infection	1536	CYBB	OMIM:300645
HP:0032260	Opportunistic bacterial infection	3514	IGKC	ORPHA:183675
HP:0032260	Opportunistic bacterial infection	3501	IGHG2	ORPHA:183675
HP:0032260	Opportunistic bacterial infection	57169	ZNFX1	OMIM:619644
HP:0032260	Opportunistic bacterial infection	3594	IL12RB1	ORPHA:319552
HP:0032260	Opportunistic bacterial infection	8517	IKBKG	OMIM:300636
HP:0032260	Opportunistic bacterial infection	84905	ZNF341	OMIM:618282
HP:0032261	Nontuberculous mycobacterial pulmonary infection	6804	STX1A	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	2947	GSTM3	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	7040	TGFB1	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	2729	GCLC	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	1084	CEACAM3	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	6556	SLC11A1	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	51164	DCTN4	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	3783	KCNN4	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	4282	MIF	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	1909	EDNRA	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	6550	SLC9A3	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	3162	HMOX1	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	115019	SLC26A9	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	3077	HFE	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	11254	SLC6A14	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	5265	SERPINA1	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	1080	CFTR	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	22802	CLCA4	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	4680	CEACAM6	ORPHA:586
HP:0032261	Nontuberculous mycobacterial pulmonary infection	219972	MPEG1	OMIM:619223
HP:0032262	Pulmonary tuberculosis	1536	CYBB	OMIM:300645
HP:0032262	Pulmonary tuberculosis	3514	IGKC	ORPHA:183675
HP:0032262	Pulmonary tuberculosis	3501	IGHG2	ORPHA:183675
HP:0032263	Increased blood pressure	51726	DNAJB11	OMIM:618061
HP:0032263	Increased blood pressure	51726	DNAJB11	ORPHA:730
HP:0032263	Increased blood pressure	10128	LRPPRC	OMIM:220111
HP:0032263	Increased blood pressure	875	CBS	ORPHA:394
HP:0032263	Increased blood pressure	63036	CELA2A	OMIM:618620
HP:0032263	Increased blood pressure	776	CACNA1D	OMIM:615474
HP:0032263	Increased blood pressure	776	CACNA1D	ORPHA:369929
HP:0032263	Increased blood pressure	2200	FBN1	ORPHA:1885
HP:0032263	Increased blood pressure	2200	FBN1	ORPHA:2833
HP:0032263	Increased blood pressure	2200	FBN1	OMIM:616914
HP:0032263	Increased blood pressure	2200	FBN1	ORPHA:91387
HP:0032263	Increased blood pressure	54507	ADAMTSL4	ORPHA:1885
HP:0032263	Increased blood pressure	8518	ELP1	ORPHA:1764
HP:0032263	Increased blood pressure	8518	ELP1	OMIM:223900
HP:0032263	Increased blood pressure	4010	LMX1B	ORPHA:2613
HP:0032263	Increased blood pressure	57539	WDR35	OMIM:613610
HP:0032263	Increased blood pressure	63924	CIDEC	OMIM:615238
HP:0032263	Increased blood pressure	123263	MTFMT	OMIM:614947
HP:0032263	Increased blood pressure	3291	HSD11B2	OMIM:218030
HP:0032263	Increased blood pressure	3291	HSD11B2	ORPHA:320
HP:0032263	Increased blood pressure	2542	SLC37A4	OMIM:232220
HP:0032263	Increased blood pressure	2542	SLC37A4	OMIM:232240
HP:0032263	Increased blood pressure	2542	SLC37A4	ORPHA:79259
HP:0032263	Increased blood pressure	81839	VANGL1	ORPHA:3027
HP:0032263	Increased blood pressure	80199	FUZ	ORPHA:3027
HP:0032263	Increased blood pressure	2072	ERCC4	ORPHA:90321
HP:0032263	Increased blood pressure	2072	ERCC4	OMIM:610965
HP:0032263	Increased blood pressure	5447	POR	ORPHA:95699
HP:0032263	Increased blood pressure	5447	POR	OMIM:201750
HP:0032263	Increased blood pressure	23607	CD2AP	OMIM:607832
HP:0032263	Increased blood pressure	3162	HMOX1	OMIM:614034
HP:0032263	Increased blood pressure	1584	CYP11B1	OMIM:202010
HP:0032263	Increased blood pressure	1584	CYP11B1	ORPHA:90795
HP:0032263	Increased blood pressure	1584	CYP11B1	ORPHA:403
HP:0032263	Increased blood pressure	1584	CYP11B1	OMIM:103900
HP:0032263	Increased blood pressure	4552	MTRR	ORPHA:2169
HP:0032263	Increased blood pressure	55249	YY1AP1	ORPHA:79094
HP:0032263	Increased blood pressure	50940	PDE11A	OMIM:610475
HP:0032263	Increased blood pressure	50940	PDE11A	ORPHA:189439
HP:0032263	Increased blood pressure	50940	PDE11A	ORPHA:1359
HP:0032263	Increased blood pressure	23592	LEMD3	ORPHA:1879
HP:0032263	Increased blood pressure	23592	LEMD3	ORPHA:1306
HP:0032263	Increased blood pressure	1586	CYP17A1	ORPHA:90793
HP:0032263	Increased blood pressure	1586	CYP17A1	OMIM:202110
HP:0032263	Increased blood pressure	23193	GANAB	ORPHA:730
HP:0032263	Increased blood pressure	23193	GANAB	OMIM:600666
HP:0032263	Increased blood pressure	5310	PKD1	ORPHA:730
HP:0032263	Increased blood pressure	5310	PKD1	OMIM:173900
HP:0032263	Increased blood pressure	5311	PKD2	ORPHA:730
HP:0032263	Increased blood pressure	5311	PKD2	OMIM:613095
HP:0032263	Increased blood pressure	29880	ALG5	ORPHA:730
HP:0032263	Increased blood pressure	29880	ALG5	OMIM:620056
HP:0032263	Increased blood pressure	9742	IFT140	ORPHA:730
HP:0032263	Increased blood pressure	9742	IFT140	OMIM:266920
HP:0032263	Increased blood pressure	79796	ALG9	ORPHA:730
HP:0032263	Increased blood pressure	80114	BICC1	ORPHA:730
HP:0032263	Increased blood pressure	4512	MT-CO1	OMIM:540000
HP:0032263	Increased blood pressure	4513	MT-CO2	OMIM:540000
HP:0032263	Increased blood pressure	4514	MT-CO3	OMIM:540000
HP:0032263	Increased blood pressure	4519	MT-CYB	OMIM:540000
HP:0032263	Increased blood pressure	4511	MT-TC	OMIM:540000
HP:0032263	Increased blood pressure	4574	MT-TS1	OMIM:540000
HP:0032263	Increased blood pressure	4575	MT-TS2	OMIM:540000
HP:0032263	Increased blood pressure	4558	MT-TF	OMIM:540000
HP:0032263	Increased blood pressure	4541	MT-ND6	OMIM:540000
HP:0032263	Increased blood pressure	4567	MT-TL1	OMIM:540000
HP:0032263	Increased blood pressure	4567	MT-TL1	ORPHA:225
HP:0032263	Increased blood pressure	4540	MT-ND5	OMIM:540000
HP:0032263	Increased blood pressure	4566	MT-TK	OMIM:540000
HP:0032263	Increased blood pressure	4566	MT-TK	ORPHA:225
HP:0032263	Increased blood pressure	4566	MT-TK	ORPHA:1349
HP:0032263	Increased blood pressure	4535	MT-ND1	OMIM:540000
HP:0032263	Increased blood pressure	4572	MT-TQ	OMIM:540000
HP:0032263	Increased blood pressure	4577	MT-TV	OMIM:540000
HP:0032263	Increased blood pressure	4578	MT-TW	OMIM:540000
HP:0032263	Increased blood pressure	2263	FGFR2	ORPHA:87
HP:0032263	Increased blood pressure	2263	FGFR2	OMIM:123790
HP:0032263	Increased blood pressure	2263	FGFR2	ORPHA:1555
HP:0032263	Increased blood pressure	3043	HBB	OMIM:603903
HP:0032263	Increased blood pressure	3190	HNRNPK	OMIM:616580
HP:0032263	Increased blood pressure	3766	KCNJ10	OMIM:612780
HP:0032263	Increased blood pressure	3423	IDS	ORPHA:217085
HP:0032263	Increased blood pressure	3423	IDS	ORPHA:217093
HP:0032263	Increased blood pressure	2538	G6PC1	OMIM:232200
HP:0032263	Increased blood pressure	6327	SCN2B	OMIM:615378
HP:0032263	Increased blood pressure	284252	KCTD1	ORPHA:2036
HP:0032263	Increased blood pressure	284252	KCTD1	OMIM:181270
HP:0032263	Increased blood pressure	6773	STAT2	OMIM:618886
HP:0032263	Increased blood pressure	5468	PPARG	ORPHA:79083
HP:0032263	Increased blood pressure	5468	PPARG	OMIM:604367
HP:0032263	Increased blood pressure	9149	DYRK1B	OMIM:615812
HP:0032263	Increased blood pressure	4000	LMNA	ORPHA:79084
HP:0032263	Increased blood pressure	4000	LMNA	OMIM:151660
HP:0032263	Increased blood pressure	4000	LMNA	ORPHA:79474
HP:0032263	Increased blood pressure	4000	LMNA	ORPHA:740
HP:0032263	Increased blood pressure	4000	LMNA	ORPHA:363618
HP:0032263	Increased blood pressure	5346	PLIN1	OMIM:613877
HP:0032263	Increased blood pressure	5346	PLIN1	ORPHA:280356
HP:0032263	Increased blood pressure	84100	ARL6	OMIM:209900
HP:0032263	Increased blood pressure	84100	ARL6	ORPHA:110
HP:0032263	Increased blood pressure	79140	CCDC28B	OMIM:209900
HP:0032263	Increased blood pressure	582	BBS1	OMIM:209900
HP:0032263	Increased blood pressure	582	BBS1	ORPHA:110
HP:0032263	Increased blood pressure	5573	PRKAR1A	OMIM:610489
HP:0032263	Increased blood pressure	5573	PRKAR1A	ORPHA:1501
HP:0032263	Increased blood pressure	5573	PRKAR1A	ORPHA:189439
HP:0032263	Increased blood pressure	5573	PRKAR1A	ORPHA:1359
HP:0032263	Increased blood pressure	79184	BRCC3	ORPHA:280679
HP:0032263	Increased blood pressure	7490	WT1	OMIM:194080
HP:0032263	Increased blood pressure	7490	WT1	ORPHA:347
HP:0032263	Increased blood pressure	7490	WT1	ORPHA:220
HP:0032263	Increased blood pressure	7490	WT1	ORPHA:654
HP:0032263	Increased blood pressure	83550	GPR101	ORPHA:963
HP:0032263	Increased blood pressure	9049	AIP	ORPHA:963
HP:0032263	Increased blood pressure	9049	AIP	OMIM:102200
HP:0032263	Increased blood pressure	9049	AIP	OMIM:219090
HP:0032263	Increased blood pressure	2332	FMR1	ORPHA:93256
HP:0032263	Increased blood pressure	2332	FMR1	ORPHA:449291
HP:0032263	Increased blood pressure	84133	ZNRF3	ORPHA:1501
HP:0032263	Increased blood pressure	7157	TP53	ORPHA:1501
HP:0032263	Increased blood pressure	7157	TP53	ORPHA:96253
HP:0032263	Increased blood pressure	1499	CTNNB1	ORPHA:1501
HP:0032263	Increased blood pressure	1029	CDKN2A	ORPHA:1501
HP:0032263	Increased blood pressure	7015	TERT	ORPHA:1501
HP:0032263	Increased blood pressure	1181	CLCN2	OMIM:605635
HP:0032263	Increased blood pressure	1181	CLCN2	ORPHA:404
HP:0032263	Increased blood pressure	4313	MMP2	ORPHA:371428
HP:0032263	Increased blood pressure	4323	MMP14	ORPHA:371428
HP:0032263	Increased blood pressure	5139	PDE3A	OMIM:112410
HP:0032263	Increased blood pressure	5139	PDE3A	ORPHA:1276
HP:0032263	Increased blood pressure	1717	DHCR7	OMIM:270400
HP:0032263	Increased blood pressure	1281	COL3A1	ORPHA:286
HP:0032263	Increased blood pressure	1281	COL3A1	ORPHA:231160
HP:0032263	Increased blood pressure	9896	FIG4	ORPHA:3472
HP:0032263	Increased blood pressure	55697	VAC14	ORPHA:3472
HP:0032263	Increased blood pressure	64127	NOD2	OMIM:186580
HP:0032263	Increased blood pressure	64127	NOD2	ORPHA:90340
HP:0032263	Increased blood pressure	54968	TMEM70	OMIM:614052
HP:0032263	Increased blood pressure	659	BMPR2	OMIM:178600
HP:0032263	Increased blood pressure	5167	ENPP1	OMIM:208000
HP:0032263	Increased blood pressure	5167	ENPP1	ORPHA:51608
HP:0032263	Increased blood pressure	5167	ENPP1	ORPHA:758
HP:0032263	Increased blood pressure	9860	LRIG2	ORPHA:2704
HP:0032263	Increased blood pressure	60495	HPSE2	ORPHA:2704
HP:0032263	Increased blood pressure	595	CCND1	OMIM:193300
HP:0032263	Increased blood pressure	595	CCND1	ORPHA:892
HP:0032263	Increased blood pressure	84984	CEP19	OMIM:615703
HP:0032263	Increased blood pressure	84984	CEP19	ORPHA:110
HP:0032263	Increased blood pressure	4582	MUC1	OMIM:174000
HP:0032263	Increased blood pressure	54	ACP5	ORPHA:1855
HP:0032263	Increased blood pressure	4069	LYZ	OMIM:105200
HP:0032263	Increased blood pressure	2243	FGA	OMIM:105200
HP:0032263	Increased blood pressure	335	APOA1	OMIM:105200
HP:0032263	Increased blood pressure	567	B2M	OMIM:105200
HP:0032263	Increased blood pressure	10019	SH2B3	OMIM:133100
HP:0032263	Increased blood pressure	2057	EPOR	OMIM:133100
HP:0032263	Increased blood pressure	92482	BBIP1	ORPHA:110
HP:0032263	Increased blood pressure	80184	CEP290	ORPHA:110
HP:0032263	Increased blood pressure	80184	CEP290	ORPHA:3156
HP:0032263	Increased blood pressure	11020	IFT27	ORPHA:110
HP:0032263	Increased blood pressure	49855	SCAPER	ORPHA:110
HP:0032263	Increased blood pressure	4867	NPHP1	ORPHA:110
HP:0032263	Increased blood pressure	4867	NPHP1	OMIM:256100
HP:0032263	Increased blood pressure	4867	NPHP1	ORPHA:3156
HP:0032263	Increased blood pressure	51057	WDPCP	ORPHA:110
HP:0032263	Increased blood pressure	27241	BBS9	ORPHA:110
HP:0032263	Increased blood pressure	22954	TRIM32	ORPHA:110
HP:0032263	Increased blood pressure	54903	MKS1	ORPHA:110
HP:0032263	Increased blood pressure	79738	BBS10	ORPHA:110
HP:0032263	Increased blood pressure	123016	TTC8	ORPHA:110
HP:0032263	Increased blood pressure	26160	IFT172	ORPHA:110
HP:0032263	Increased blood pressure	583	BBS2	ORPHA:110
HP:0032263	Increased blood pressure	585	BBS4	ORPHA:110
HP:0032263	Increased blood pressure	8195	MKKS	ORPHA:110
HP:0032263	Increased blood pressure	54585	LZTFL1	ORPHA:110
HP:0032263	Increased blood pressure	55212	BBS7	ORPHA:110
HP:0032263	Increased blood pressure	166379	BBS12	ORPHA:110
HP:0032263	Increased blood pressure	10806	SDCCAG8	ORPHA:110
HP:0032263	Increased blood pressure	10806	SDCCAG8	ORPHA:3156
HP:0032263	Increased blood pressure	157657	CFAP418	ORPHA:110
HP:0032263	Increased blood pressure	129880	BBS5	ORPHA:110
HP:0032263	Increased blood pressure	80173	IFT74	ORPHA:110
HP:0032263	Increased blood pressure	7809	BSND	ORPHA:89938
HP:0032263	Increased blood pressure	1188	CLCNKB	ORPHA:89938
HP:0032263	Increased blood pressure	1187	CLCNKA	ORPHA:89938
HP:0032263	Increased blood pressure	5566	PRKACA	OMIM:615830
HP:0032263	Increased blood pressure	5566	PRKACA	ORPHA:189439
HP:0032263	Increased blood pressure	8622	PDE8B	ORPHA:189439
HP:0032263	Increased blood pressure	6804	STX1A	ORPHA:904
HP:0032263	Increased blood pressure	7461	CLIP2	ORPHA:904
HP:0032263	Increased blood pressure	84277	DNAJC30	ORPHA:904
HP:0032263	Increased blood pressure	8468	FKBP6	ORPHA:904
HP:0032263	Increased blood pressure	5982	RFC2	ORPHA:904
HP:0032263	Increased blood pressure	2969	GTF2I	ORPHA:904
HP:0032263	Increased blood pressure	3984	LIMK1	ORPHA:904
HP:0032263	Increased blood pressure	9569	GTF2IRD1	ORPHA:904
HP:0032263	Increased blood pressure	155382	VPS37D	ORPHA:904
HP:0032263	Increased blood pressure	155368	METTL27	ORPHA:904
HP:0032263	Increased blood pressure	114049	BUD23	ORPHA:904
HP:0032263	Increased blood pressure	7458	EIF4H	ORPHA:904
HP:0032263	Increased blood pressure	84163	GTF2IRD2	ORPHA:904
HP:0032263	Increased blood pressure	9275	BCL7B	ORPHA:904
HP:0032263	Increased blood pressure	26608	TBL2	ORPHA:904
HP:0032263	Increased blood pressure	653361	NCF1	ORPHA:904
HP:0032263	Increased blood pressure	135886	TMEM270	ORPHA:904
HP:0032263	Increased blood pressure	9031	BAZ1B	ORPHA:904
HP:0032263	Increased blood pressure	79798	ARMC5	OMIM:615954
HP:0032263	Increased blood pressure	79798	ARMC5	ORPHA:189427
HP:0032263	Increased blood pressure	8364	H4C3	OMIM:619758
HP:0032263	Increased blood pressure	81031	SLC2A10	ORPHA:3342
HP:0032263	Increased blood pressure	81031	SLC2A10	OMIM:208050
HP:0032263	Increased blood pressure	1493	CTLA4	ORPHA:900
HP:0032263	Increased blood pressure	26191	PTPN22	ORPHA:900
HP:0032263	Increased blood pressure	3115	HLA-DPB1	ORPHA:900
HP:0032263	Increased blood pressure	5657	PRTN3	ORPHA:900
HP:0032263	Increased blood pressure	3113	HLA-DPA1	ORPHA:900
HP:0032263	Increased blood pressure	7486	WRN	ORPHA:902
HP:0032263	Increased blood pressure	4556	MT-TE	ORPHA:225
HP:0032263	Increased blood pressure	4040	LRP6	OMIM:610947
HP:0032263	Increased blood pressure	5244	ABCB4	ORPHA:69663
HP:0032263	Increased blood pressure	2908	NR3C1	OMIM:615962
HP:0032263	Increased blood pressure	2908	NR3C1	ORPHA:786
HP:0032263	Increased blood pressure	2908	NR3C1	ORPHA:96253
HP:0032263	Increased blood pressure	50485	SMARCAL1	ORPHA:1830
HP:0032263	Increased blood pressure	50485	SMARCAL1	OMIM:242900
HP:0032263	Increased blood pressure	4982	TNFRSF11B	ORPHA:2801
HP:0032263	Increased blood pressure	8792	TNFRSF11A	ORPHA:2801
HP:0032263	Increased blood pressure	2778	GNAS	ORPHA:189427
HP:0032263	Increased blood pressure	2778	GNAS	ORPHA:79443
HP:0032263	Increased blood pressure	2778	GNAS	OMIM:219080
HP:0032263	Increased blood pressure	8481	OFD1	OMIM:311200
HP:0032263	Increased blood pressure	8481	OFD1	ORPHA:2750
HP:0032263	Increased blood pressure	64135	IFIH1	OMIM:615846
HP:0032263	Increased blood pressure	866	SERPINA6	OMIM:611489
HP:0032263	Increased blood pressure	10253	SPRY2	OMIM:616818
HP:0032263	Increased blood pressure	1482	NKX2-5	ORPHA:402075
HP:0032263	Increased blood pressure	140628	GATA5	ORPHA:402075
HP:0032263	Increased blood pressure	4091	SMAD6	ORPHA:402075
HP:0032263	Increased blood pressure	4205	MEF2A	OMIM:608320
HP:0032263	Increased blood pressure	38	ACAT1	ORPHA:134
HP:0032263	Increased blood pressure	4854	NOTCH3	ORPHA:136
HP:0032263	Increased blood pressure	7355	SLC35A2	OMIM:300896
HP:0032263	Increased blood pressure	2717	GLA	OMIM:301500
HP:0032263	Increased blood pressure	2717	GLA	ORPHA:324
HP:0032263	Increased blood pressure	4193	MDM2	OMIM:618681
HP:0032263	Increased blood pressure	10463	SLC30A9	OMIM:617595
HP:0032263	Increased blood pressure	3762	KCNJ5	OMIM:613677
HP:0032263	Increased blood pressure	3762	KCNJ5	ORPHA:251274
HP:0032263	Increased blood pressure	50628	GEMIN4	OMIM:617913
HP:0032263	Increased blood pressure	3458	IFNG	ORPHA:805
HP:0032263	Increased blood pressure	7248	TSC1	ORPHA:805
HP:0032263	Increased blood pressure	7249	TSC2	ORPHA:805
HP:0032263	Increased blood pressure	3081	HGD	ORPHA:56
HP:0032263	Increased blood pressure	11277	TREX1	ORPHA:247691
HP:0032263	Increased blood pressure	3991	LIPE	OMIM:615980
HP:0032263	Increased blood pressure	667	DST	OMIM:614653
HP:0032263	Increased blood pressure	51025	PAM16	OMIM:613320
HP:0032263	Increased blood pressure	51134	CEP83	OMIM:615862
HP:0032263	Increased blood pressure	3075	CFH	OMIM:235400
HP:0032263	Increased blood pressure	3078	CFHR1	OMIM:235400
HP:0032263	Increased blood pressure	10878	CFHR3	OMIM:235400
HP:0032263	Increased blood pressure	5076	PAX2	ORPHA:97362
HP:0032263	Increased blood pressure	5076	PAX2	OMIM:120330
HP:0032263	Increased blood pressure	5087	PBX1	ORPHA:97362
HP:0032263	Increased blood pressure	286053	NSMCE2	OMIM:617253
HP:0032263	Increased blood pressure	2982	GUCY1A1	OMIM:615750
HP:0032263	Increased blood pressure	2982	GUCY1A1	ORPHA:401945
HP:0032263	Increased blood pressure	4160	MC4R	ORPHA:71529
HP:0032263	Increased blood pressure	100151683	RNU4ATAC	OMIM:210710
HP:0032263	Increased blood pressure	65062	TMEM237	OMIM:614424
HP:0032263	Increased blood pressure	3875	KRT18	OMIM:215600
HP:0032263	Increased blood pressure	4179	CD46	OMIM:612922
HP:0032263	Increased blood pressure	629	CFB	OMIM:612924
HP:0032263	Increased blood pressure	3426	CFI	OMIM:612923
HP:0032263	Increased blood pressure	10058	ABCB6	ORPHA:90044
HP:0032263	Increased blood pressure	7056	THBD	OMIM:612926
HP:0032263	Increased blood pressure	718	C3	OMIM:612925
HP:0032263	Increased blood pressure	26580	BSCL2	ORPHA:363400
HP:0032263	Increased blood pressure	23395	LARS2	OMIM:617021
HP:0032263	Increased blood pressure	6340	SCNN1G	OMIM:618114
HP:0032263	Increased blood pressure	6340	SCNN1G	ORPHA:526
HP:0032263	Increased blood pressure	10229	COQ7	OMIM:616733
HP:0032263	Increased blood pressure	137682	NDUFAF6	OMIM:618913
HP:0032263	Increased blood pressure	8912	CACNA1H	OMIM:617027
HP:0032263	Increased blood pressure	1287	COL4A5	OMIM:301050
HP:0032263	Increased blood pressure	5978	REST	ORPHA:654
HP:0032263	Increased blood pressure	129563	DIS3L2	ORPHA:654
HP:0032263	Increased blood pressure	675	BRCA2	ORPHA:654
HP:0032263	Increased blood pressure	9319	TRIP13	ORPHA:654
HP:0032263	Increased blood pressure	10155	TRIM28	ORPHA:654
HP:0032263	Increased blood pressure	11281	POU6F2	ORPHA:654
HP:0032263	Increased blood pressure	2719	GPC3	ORPHA:654
HP:0032263	Increased blood pressure	283120	H19	ORPHA:654
HP:0032263	Increased blood pressure	3949	LDLR	ORPHA:391665
HP:0032263	Increased blood pressure	255738	PCSK9	ORPHA:391665
HP:0032263	Increased blood pressure	26119	LDLRAP1	ORPHA:391665
HP:0032263	Increased blood pressure	338	APOB	ORPHA:391665
HP:0032263	Increased blood pressure	64240	ABCG5	ORPHA:391665
HP:0032263	Increased blood pressure	64241	ABCG8	ORPHA:391665
HP:0032263	Increased blood pressure	4784	NFIX	OMIM:602535
HP:0032263	Increased blood pressure	84196	USP48	ORPHA:96253
HP:0032263	Increased blood pressure	9101	USP8	ORPHA:96253
HP:0032263	Increased blood pressure	9101	USP8	OMIM:219090
HP:0032263	Increased blood pressure	64072	CDH23	ORPHA:96253
HP:0032263	Increased blood pressure	64072	CDH23	ORPHA:91347
HP:0032263	Increased blood pressure	673	BRAF	ORPHA:96253
HP:0032263	Increased blood pressure	546	ATRX	ORPHA:96253
HP:0032263	Increased blood pressure	6337	SCNN1A	OMIM:618126
HP:0032263	Increased blood pressure	6337	SCNN1A	ORPHA:526
HP:0032263	Increased blood pressure	1956	EGFR	OMIM:616069
HP:0032263	Increased blood pressure	50619	DEF6	OMIM:619573
HP:0032263	Increased blood pressure	64423	INF2	OMIM:613237
HP:0032263	Increased blood pressure	3913	LAMB2	OMIM:609049
HP:0032263	Increased blood pressure	5277	PIGA	ORPHA:447
HP:0032263	Increased blood pressure	4306	NR3C2	OMIM:605115
HP:0032263	Increased blood pressure	5498	PPOX	ORPHA:79473
HP:0032263	Increased blood pressure	55644	OSGEP	OMIM:617729
HP:0032263	Increased blood pressure	27130	INVS	OMIM:602088
HP:0032263	Increased blood pressure	27130	INVS	ORPHA:3156
HP:0032263	Increased blood pressure	2328	FMO3	OMIM:602079
HP:0032263	Increased blood pressure	1589	CYP21A2	OMIM:201910
HP:0032263	Increased blood pressure	7225	TRPC6	OMIM:603965
HP:0032263	Increased blood pressure	6338	SCNN1B	OMIM:177200
HP:0032263	Increased blood pressure	6338	SCNN1B	ORPHA:526
HP:0032263	Increased blood pressure	4625	MYH7	ORPHA:437572
HP:0032263	Increased blood pressure	368	ABCC6	ORPHA:51608
HP:0032263	Increased blood pressure	368	ABCC6	OMIM:264800
HP:0032263	Increased blood pressure	368	ABCC6	OMIM:614473
HP:0032263	Increased blood pressure	368	ABCC6	ORPHA:758
HP:0032263	Increased blood pressure	2643	GCH1	ORPHA:98808
HP:0032263	Increased blood pressure	4929	NR4A2	ORPHA:98808
HP:0032263	Increased blood pressure	3615	IMPDH2	ORPHA:98808
HP:0032263	Increased blood pressure	1285	COL4A3	OMIM:203780
HP:0032263	Increased blood pressure	1285	COL4A3	OMIM:104200
HP:0032263	Increased blood pressure	1286	COL4A4	OMIM:203780
HP:0032263	Increased blood pressure	54796	BNC2	ORPHA:93110
HP:0032263	Increased blood pressure	2335	FN1	ORPHA:84090
HP:0032263	Increased blood pressure	2335	FN1	OMIM:601894
HP:0032263	Increased blood pressure	3425	IDUA	ORPHA:93473
HP:0032263	Increased blood pressure	79783	SUGCT	OMIM:231690
HP:0032263	Increased blood pressure	2132	EXT2	ORPHA:52022
HP:0032263	Increased blood pressure	60529	ALX4	ORPHA:52022
HP:0032263	Increased blood pressure	51317	PHF21A	ORPHA:52022
HP:0032263	Increased blood pressure	81	ACTN4	OMIM:603278
HP:0032263	Increased blood pressure	10269	ZMPSTE24	ORPHA:740
HP:0032263	Increased blood pressure	51360	MBTPS2	OMIM:308205
HP:0032263	Increased blood pressure	60401	EDA2R	ORPHA:181
HP:0032263	Increased blood pressure	1896	EDA	ORPHA:181
HP:0032263	Increased blood pressure	2629	GBA1	OMIM:230800
HP:0032263	Increased blood pressure	64131	XYLT1	OMIM:264800
HP:0032263	Increased blood pressure	64132	XYLT2	OMIM:264800
HP:0032263	Increased blood pressure	5654	HTRA1	OMIM:616779
HP:0032263	Increased blood pressure	3145	HMBS	OMIM:176000
HP:0032263	Increased blood pressure	3145	HMBS	ORPHA:79276
HP:0032263	Increased blood pressure	353	APRT	ORPHA:976
HP:0032263	Increased blood pressure	5456	POU3F4	ORPHA:1435
HP:0032263	Increased blood pressure	4221	MEN1	ORPHA:652
HP:0032263	Increased blood pressure	1027	CDKN1B	ORPHA:652
HP:0032263	Increased blood pressure	1026	CDKN1A	ORPHA:652
HP:0032263	Increased blood pressure	1030	CDKN2B	ORPHA:652
HP:0032263	Increased blood pressure	1031	CDKN2C	ORPHA:652
HP:0032263	Increased blood pressure	4256	MGP	OMIM:245150
HP:0032263	Increased blood pressure	8815	BANF1	OMIM:614008
HP:0032263	Increased blood pressure	63929	XPNPEP3	OMIM:613159
HP:0032263	Increased blood pressure	59	ACTA2	OMIM:613834
HP:0032263	Increased blood pressure	59	ACTA2	ORPHA:91387
HP:0032263	Increased blood pressure	4853	NOTCH2	OMIM:610205
HP:0032263	Increased blood pressure	1371	CPOX	OMIM:121300
HP:0032263	Increased blood pressure	1585	CYP11B2	ORPHA:403
HP:0032263	Increased blood pressure	65266	WNK4	OMIM:614491
HP:0032263	Increased blood pressure	65125	WNK1	OMIM:614492
HP:0032263	Increased blood pressure	8516	ITGA8	OMIM:191830
HP:0032263	Increased blood pressure	23404	EXOSC2	OMIM:617763
HP:0032263	Increased blood pressure	26249	KLHL3	OMIM:614495
HP:0032263	Increased blood pressure	8452	CUL3	OMIM:614496
HP:0032263	Increased blood pressure	9935	MAFB	OMIM:166300
HP:0032263	Increased blood pressure	26146	TRAF3IP1	ORPHA:3156
HP:0032263	Increased blood pressure	9657	IQCB1	ORPHA:3156
HP:0032263	Increased blood pressure	261734	NPHP4	ORPHA:3156
HP:0032263	Increased blood pressure	57728	WDR19	ORPHA:3156
HP:0032263	Increased blood pressure	22897	CEP164	ORPHA:3156
HP:0032263	Increased blood pressure	4629	MYH11	ORPHA:91387
HP:0032263	Increased blood pressure	7046	TGFBR1	ORPHA:91387
HP:0032263	Increased blood pressure	7048	TGFBR2	ORPHA:91387
HP:0032263	Increased blood pressure	4015	LOX	ORPHA:91387
HP:0032263	Increased blood pressure	4087	SMAD2	ORPHA:91387
HP:0032263	Increased blood pressure	7043	TGFB3	ORPHA:91387
HP:0032263	Increased blood pressure	4088	SMAD3	ORPHA:91387
HP:0032263	Increased blood pressure	7042	TGFB2	ORPHA:91387
HP:0032263	Increased blood pressure	5592	PRKG1	ORPHA:91387
HP:0032263	Increased blood pressure	2301	FOXE3	ORPHA:91387
HP:0032263	Increased blood pressure	4144	MAT2A	ORPHA:91387
HP:0032263	Increased blood pressure	23493	HEY2	ORPHA:91387
HP:0032263	Increased blood pressure	8076	MFAP5	ORPHA:91387
HP:0032263	Increased blood pressure	4638	MYLK	ORPHA:91387
HP:0032263	Increased blood pressure	55901	THSD1	ORPHA:231160
HP:0032263	Increased blood pressure	7049	TGFBR3	ORPHA:231160
HP:0032263	Increased blood pressure	83854	ANGPTL6	ORPHA:231160
HP:0032263	Increased blood pressure	10660	LBX1	OMIM:619483
HP:0032263	Increased blood pressure	171023	ASXL1	ORPHA:98850
HP:0032263	Increased blood pressure	54790	TET2	ORPHA:98850
HP:0032263	Increased blood pressure	54790	TET2	ORPHA:824
HP:0032263	Increased blood pressure	54790	TET2	ORPHA:729
HP:0032263	Increased blood pressure	867	CBL	ORPHA:98850
HP:0032263	Increased blood pressure	861	RUNX1	ORPHA:98850
HP:0032263	Increased blood pressure	6427	SRSF2	ORPHA:98850
HP:0032263	Increased blood pressure	7840	ALMS1	ORPHA:64
HP:0032263	Increased blood pressure	5314	PKHD1	OMIM:263200
HP:0032263	Increased blood pressure	5314	PKHD1	ORPHA:53035
HP:0032263	Increased blood pressure	5314	PKHD1	ORPHA:731
HP:0032263	Increased blood pressure	55532	SLC30A10	ORPHA:309854
HP:0032263	Increased blood pressure	72	ACTG2	OMIM:619431
HP:0032263	Increased blood pressure	2632	GBE1	OMIM:232500
HP:0032263	Increased blood pressure	9414	TJP2	OMIM:615878
HP:0032263	Increased blood pressure	811	CALR	ORPHA:824
HP:0032263	Increased blood pressure	811	CALR	ORPHA:131
HP:0032263	Increased blood pressure	4352	MPL	ORPHA:824
HP:0032263	Increased blood pressure	4352	MPL	ORPHA:729
HP:0032263	Increased blood pressure	3717	JAK2	ORPHA:824
HP:0032263	Increased blood pressure	3717	JAK2	ORPHA:131
HP:0032263	Increased blood pressure	3717	JAK2	ORPHA:729
HP:0032263	Increased blood pressure	10056	FARSB	OMIM:613658
HP:0032263	Increased blood pressure	91147	TMEM67	OMIM:216360
HP:0032263	Increased blood pressure	91147	TMEM67	ORPHA:84081
HP:0032263	Increased blood pressure	91147	TMEM67	ORPHA:1454
HP:0032263	Increased blood pressure	197131	UBR1	OMIM:243800
HP:0032263	Increased blood pressure	3594	IL12RB1	ORPHA:186
HP:0032263	Increased blood pressure	23534	TNPO3	ORPHA:186
HP:0032263	Increased blood pressure	3592	IL12A	ORPHA:186
HP:0032263	Increased blood pressure	6689	SPIB	ORPHA:186
HP:0032263	Increased blood pressure	5450	POU2AF1	ORPHA:186
HP:0032263	Increased blood pressure	9966	TNFSF15	ORPHA:186
HP:0032263	Increased blood pressure	79258	MMEL1	ORPHA:186
HP:0032263	Increased blood pressure	3663	IRF5	ORPHA:186
HP:0032263	Increased blood pressure	100147744	RNU7-1	OMIM:619487
HP:0032263	Increased blood pressure	79991	STN1	OMIM:617341
HP:0032263	Increased blood pressure	27031	NPHP3	OMIM:208540
HP:0032263	Increased blood pressure	27031	NPHP3	OMIM:267010
HP:0032263	Increased blood pressure	83737	ITCH	OMIM:613385
HP:0032263	Increased blood pressure	83737	ITCH	ORPHA:228426
HP:0032263	Increased blood pressure	1716	DGUOK	OMIM:617068
HP:0032263	Increased blood pressure	1716	DGUOK	OMIM:251880
HP:0032263	Increased blood pressure	50674	NEUROG3	ORPHA:83620
HP:0032263	Increased blood pressure	51816	ADA2	OMIM:615688
HP:0032263	Increased blood pressure	84936	ZFYVE19	OMIM:619849
HP:0032263	Increased blood pressure	169792	GLIS3	OMIM:610199
HP:0032263	Increased blood pressure	51473	DCDC2	ORPHA:84081
HP:0032263	Increased blood pressure	51473	DCDC2	OMIM:617394
HP:0032263	Increased blood pressure	23729	SHPK	ORPHA:440713
HP:0032263	Increased blood pressure	9076	CLDN1	ORPHA:59303
HP:0032263	Increased blood pressure	9076	CLDN1	OMIM:607626
HP:0032263	Increased blood pressure	6663	SOX10	OMIM:609136
HP:0032263	Increased blood pressure	51085	MLXIPL	OMIM:194050
HP:0032263	Increased blood pressure	2006	ELN	OMIM:194050
HP:0032263	Increased blood pressure	3516	RBPJ	ORPHA:974
HP:0032263	Increased blood pressure	4851	NOTCH1	ORPHA:974
HP:0032263	Increased blood pressure	57514	ARHGAP31	ORPHA:974
HP:0032263	Increased blood pressure	57572	DOCK6	ORPHA:974
HP:0032263	Increased blood pressure	285203	EOGT	ORPHA:974
HP:0032263	Increased blood pressure	54567	DLL4	ORPHA:974
HP:0032263	Increased blood pressure	54567	DLL4	OMIM:616589
HP:0032263	Increased blood pressure	199221	DZIP1L	ORPHA:731
HP:0032263	Increased blood pressure	9968	MED12	OMIM:301068
HP:0032263	Increased blood pressure	2658	GDF2	ORPHA:774
HP:0032263	Increased blood pressure	2658	GDF2	OMIM:615506
HP:0032263	Increased blood pressure	94	ACVRL1	ORPHA:774
HP:0032263	Increased blood pressure	4089	SMAD4	ORPHA:774
HP:0032263	Increased blood pressure	2022	ENG	ORPHA:774
HP:0032263	Increased blood pressure	4351	MPI	ORPHA:79319
HP:0032263	Increased blood pressure	2153	F5	ORPHA:131
HP:0032263	Increased blood pressure	2859	GPR35	ORPHA:171
HP:0032263	Increased blood pressure	10507	SEMA4D	ORPHA:171
HP:0032263	Increased blood pressure	4485	MST1	ORPHA:171
HP:0032263	Increased blood pressure	6925	TCF4	ORPHA:171
HP:0032263	Increased blood pressure	79989	IFT56	OMIM:619534
HP:0032263	Increased blood pressure	3988	LIPA	OMIM:278000
HP:0032263	Increased blood pressure	654	BMP6	ORPHA:465508
HP:0032263	Increased blood pressure	3077	HFE	ORPHA:465508
HP:0032263	Increased blood pressure	5557	PRIM1	OMIM:620005
HP:0032263	Increased blood pressure	3431	SP110	ORPHA:79124
HP:0032263	Increased blood pressure	5825	ABCD3	OMIM:616278
HP:0032263	Increased blood pressure	93183	PIGM	OMIM:610293
HP:0032263	Increased blood pressure	55340	GIMAP5	OMIM:619463
HP:0032263	Increased blood pressure	113220	KIF12	OMIM:619662
HP:0032263	Increased blood pressure	7289	TULP3	OMIM:619902
HP:0032263	Increased blood pressure	56623	INPP5E	ORPHA:1454
HP:0032263	Increased blood pressure	23322	RPGRIP1L	ORPHA:1454
HP:0032263	Increased blood pressure	57545	CC2D2A	ORPHA:1454
HP:0032263	Increased blood pressure	2783	GNB2	OMIM:619503
HP:0032263	Increased blood pressure	56244	BTNL2	ORPHA:797
HP:0032263	Increased blood pressure	3123	HLA-DRB1	ORPHA:797
HP:0032263	Increased blood pressure	55654	TMEM127	OMIM:171300
HP:0032263	Increased blood pressure	55654	TMEM127	ORPHA:29072
HP:0032263	Increased blood pressure	5979	RET	OMIM:171300
HP:0032263	Increased blood pressure	5979	RET	ORPHA:29072
HP:0032263	Increased blood pressure	5979	RET	ORPHA:276621
HP:0032263	Increased blood pressure	6390	SDHB	OMIM:171300
HP:0032263	Increased blood pressure	6390	SDHB	ORPHA:29072
HP:0032263	Increased blood pressure	6390	SDHB	ORPHA:276621
HP:0032263	Increased blood pressure	6392	SDHD	OMIM:171300
HP:0032263	Increased blood pressure	6392	SDHD	ORPHA:29072
HP:0032263	Increased blood pressure	6392	SDHD	ORPHA:276621
HP:0032263	Increased blood pressure	4149	MAX	OMIM:171300
HP:0032263	Increased blood pressure	4149	MAX	ORPHA:29072
HP:0032263	Increased blood pressure	7428	VHL	OMIM:171300
HP:0032263	Increased blood pressure	7428	VHL	ORPHA:29072
HP:0032263	Increased blood pressure	7428	VHL	ORPHA:276621
HP:0032263	Increased blood pressure	1743	DLST	ORPHA:29072
HP:0032263	Increased blood pressure	4191	MDH2	ORPHA:29072
HP:0032263	Increased blood pressure	6389	SDHA	ORPHA:29072
HP:0032263	Increased blood pressure	23095	KIF1B	ORPHA:29072
HP:0032263	Increased blood pressure	2271	FH	ORPHA:29072
HP:0032263	Increased blood pressure	8402	SLC25A11	ORPHA:29072
HP:0032263	Increased blood pressure	54949	SDHAF2	ORPHA:29072
HP:0032263	Increased blood pressure	4763	NF1	ORPHA:29072
HP:0032263	Increased blood pressure	6391	SDHC	ORPHA:29072
HP:0032263	Increased blood pressure	1788	DNMT3A	ORPHA:276621
HP:0032263	Increased blood pressure	2034	EPAS1	ORPHA:276621
HP:0032263	Increased blood pressure	554	AVPR2	OMIM:300539
HP:0032263	Increased blood pressure	2321	FLT1	ORPHA:275555
HP:0032263	Increased blood pressure	219736	STOX1	ORPHA:275555
HP:0032263	Increased blood pressure	10699	CORIN	ORPHA:275555
HP:0032263	Increased blood pressure	4846	NOS3	OMIM:145500
HP:0032263	Increased blood pressure	1889	ECE1	OMIM:145500
HP:0032263	Increased blood pressure	1577	CYP3A5	OMIM:145500
HP:0032263	Increased blood pressure	2784	GNB3	OMIM:145500
HP:0032263	Increased blood pressure	8490	RGS5	OMIM:145500
HP:0032263	Increased blood pressure	5740	PTGIS	OMIM:145500
HP:0032263	Increased blood pressure	118	ADD1	OMIM:145500
HP:0032263	Increased blood pressure	481	ATP1B1	OMIM:145500
HP:0032263	Increased blood pressure	185	AGTR1	OMIM:145500
HP:0032263	Increased blood pressure	183	AGT	OMIM:145500
HP:0032263	Increased blood pressure	1161	ERCC8	ORPHA:90324
HP:0032263	Increased blood pressure	2074	ERCC6	ORPHA:90324
HP:0032263	Increased blood pressure	1235	CCR6	ORPHA:220393
HP:0032263	Increased blood pressure	1490	CCN2	ORPHA:220393
HP:0032263	Increased blood pressure	857	CAV1	ORPHA:220393
HP:0032263	Increased blood pressure	3593	IL12B	ORPHA:3287
HP:0032263	Increased blood pressure	3106	HLA-B	ORPHA:3287
HP:0032263	Increased blood pressure	6945	MLX	ORPHA:3287
HP:0032263	Increased blood pressure	1312	COMT	ORPHA:567
HP:0032263	Increased blood pressure	221037	JMJD1C	ORPHA:567
HP:0032263	Increased blood pressure	2812	GP1BB	ORPHA:567
HP:0032263	Increased blood pressure	6239	RREB1	ORPHA:567
HP:0032263	Increased blood pressure	6899	TBX1	ORPHA:567
HP:0032263	Increased blood pressure	7290	HIRA	ORPHA:567
HP:0032263	Increased blood pressure	9632	SEC24C	ORPHA:567
HP:0032263	Increased blood pressure	7353	UFD1	ORPHA:567
HP:0032263	Increased blood pressure	421	ARVCF	ORPHA:567
HP:0032263	Increased blood pressure	51284	TLR7	OMIM:301080
HP:0032263	Increased blood pressure	389827	MYMK	ORPHA:1358
HP:0032263	Increased blood pressure	101929726	MYMX	ORPHA:1358
HP:0032263	Increased blood pressure	6772	STAT1	ORPHA:391487
HP:0032263	Increased blood pressure	10043	TOM1	ORPHA:391487
HP:0032271	Extrapulmonary tuberculosis	57169	ZNFX1	OMIM:619644
HP:0032272	Elevated urinary N-acetylaspartic acid level	443	ASPA	OMIM:271900
HP:0032272	Elevated urinary N-acetylaspartic acid level	64849	SLC13A3	OMIM:618384
HP:0032273	Increased circulating N-acetylaspartic acid concentration	443	ASPA	OMIM:271900
HP:0032274	Increased CSF N-acetylaspartic acid concentration	443	ASPA	OMIM:271900
HP:0032275	Recurrent shingles	9094	UNC119	OMIM:615518
HP:0032275	Recurrent shingles	3514	IGKC	ORPHA:183675
HP:0032275	Recurrent shingles	3501	IGHG2	ORPHA:183675
HP:0032276	Prominent subcalcaneal fat pad	79718	TBL1XR1	OMIM:602342
HP:0032277	Lozenge-shaped umbilicus	2245	FGD1	OMIM:305400
HP:0032278	2-hydroxyglutarate aciduria	728294	D2HGDH	OMIM:600721
HP:0032278	2-hydroxyglutarate aciduria	3418	IDH2	OMIM:613657
HP:0032278	2-hydroxyglutarate aciduria	3417	IDH1	ORPHA:99646
HP:0032278	2-hydroxyglutarate aciduria	6576	SLC25A1	OMIM:615182
HP:0032278	2-hydroxyglutarate aciduria	79944	L2HGDH	OMIM:236792
HP:0032283	Disseminated nontuberculous mycobacterial infection	3594	IL12RB1	ORPHA:319552
HP:0032283	Disseminated nontuberculous mycobacterial infection	8517	IKBKG	OMIM:300636
HP:0032284	Ultra-low vision with retained motion projection	392255	GDF6	OMIM:615360
HP:0032286	Ultra-low vision with retained light perception	64802	NMNAT1	OMIM:608553
HP:0032286	Ultra-low vision with retained light perception	3166	HMX1	OMIM:612109
HP:0032287	Ultra-low vision with no light perception	220202	ATOH7	OMIM:221900
HP:0032296	Increased circulating IgG subclass	64135	IFIH1	OMIM:619773
HP:0032297	Increased circulating IgG3 level	64135	IFIH1	OMIM:619773
HP:0003901	Stippled calcification of the humeral epiphyses	8443	GNPAT	OMIM:222765
HP:0003902	Epiphyseal stippling of the humerus	2317	FLNB	ORPHA:56305
HP:0003907	Abnormal humeral metaphysis morphology	59341	TRPV4	ORPHA:93314
HP:0003907	Abnormal humeral metaphysis morphology	2778	GNAS	ORPHA:94089
HP:0003907	Abnormal humeral metaphysis morphology	8675	STX16	ORPHA:94089
HP:0003907	Abnormal humeral metaphysis morphology	2146	EZH2	OMIM:277590
HP:0003908	Corner fracture of metaphysis	1280	COL2A1	OMIM:184255
HP:0003908	Corner fracture of metaphysis	1280	COL2A1	ORPHA:93315
HP:0003908	Corner fracture of metaphysis	2335	FN1	OMIM:184255
HP:0003908	Corner fracture of metaphysis	2335	FN1	ORPHA:93315
HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	2778	GNAS	ORPHA:94089
HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	8675	STX16	ORPHA:94089
HP:0003911	Flared humeral metaphysis	59341	TRPV4	OMIM:156530
HP:0003911	Flared humeral metaphysis	2146	EZH2	OMIM:277590
HP:0003926	Abnormal humeral diaphysis morphology	5593	PRKG2	OMIM:619636
HP:0003041	Humeroradial synostosis	9791	PTDSS1	OMIM:151050
HP:0003041	Humeroradial synostosis	6913	TBX15	OMIM:260660
HP:0003041	Humeroradial synostosis	6913	TBX15	ORPHA:93333
HP:0003041	Humeroradial synostosis	5447	POR	OMIM:201750
HP:0003041	Humeroradial synostosis	5447	POR	OMIM:207410
HP:0003041	Humeroradial synostosis	5447	POR	ORPHA:95699
HP:0003041	Humeroradial synostosis	9241	NOG	OMIM:186570
HP:0003041	Humeroradial synostosis	2260	FGFR1	OMIM:101600
HP:0003041	Humeroradial synostosis	2263	FGFR2	OMIM:101600
HP:0003041	Humeroradial synostosis	2263	FGFR2	OMIM:207410
HP:0003041	Humeroradial synostosis	2263	FGFR2	OMIM:101200
HP:0003041	Humeroradial synostosis	7476	WNT7A	ORPHA:2879
HP:0003041	Humeroradial synostosis	7476	WNT7A	OMIM:276820
HP:0003041	Humeroradial synostosis	56603	CYP26B1	OMIM:614416
HP:0003041	Humeroradial synostosis	2254	FGF9	OMIM:612961
HP:0003041	Humeroradial synostosis	8200	GDF5	OMIM:610017
HP:0003041	Humeroradial synostosis	29980	DONSON	OMIM:251230
HP:0002987	Elbow flexion contracture	2137	EXTL3	ORPHA:508533
HP:0002987	Elbow flexion contracture	11160	ERLIN2	ORPHA:280384
HP:0002987	Elbow flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0002987	Elbow flexion contracture	4921	DDR2	OMIM:271665
HP:0002987	Elbow flexion contracture	4921	DDR2	OMIM:618175
HP:0002987	Elbow flexion contracture	57190	SELENON	ORPHA:97244
HP:0002987	Elbow flexion contracture	57190	SELENON	ORPHA:2020
HP:0002987	Elbow flexion contracture	58	ACTA1	ORPHA:97244
HP:0002987	Elbow flexion contracture	58	ACTA1	ORPHA:2020
HP:0002987	Elbow flexion contracture	83932	SPRTN	OMIM:616200
HP:0002987	Elbow flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0002987	Elbow flexion contracture	100151683	RNU4ATAC	OMIM:226960
HP:0002987	Elbow flexion contracture	4010	LMX1B	ORPHA:2614
HP:0002987	Elbow flexion contracture	5352	PLOD2	OMIM:609220
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:75840
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:536516
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:610
HP:0002987	Elbow flexion contracture	1291	COL6A1	ORPHA:75840
HP:0002987	Elbow flexion contracture	1291	COL6A1	ORPHA:610
HP:0002987	Elbow flexion contracture	1291	COL6A1	OMIM:158810
HP:0002987	Elbow flexion contracture	1292	COL6A2	ORPHA:75840
HP:0002987	Elbow flexion contracture	1292	COL6A2	ORPHA:610
HP:0002987	Elbow flexion contracture	1292	COL6A2	OMIM:158810
HP:0002987	Elbow flexion contracture	1293	COL6A3	ORPHA:75840
HP:0002987	Elbow flexion contracture	1293	COL6A3	ORPHA:610
HP:0002987	Elbow flexion contracture	1293	COL6A3	OMIM:158810
HP:0002987	Elbow flexion contracture	5447	POR	ORPHA:95699
HP:0002987	Elbow flexion contracture	4000	LMNA	OMIM:181350
HP:0002987	Elbow flexion contracture	4000	LMNA	OMIM:248370
HP:0002987	Elbow flexion contracture	4000	LMNA	OMIM:616516
HP:0002987	Elbow flexion contracture	4000	LMNA	ORPHA:98855
HP:0002987	Elbow flexion contracture	4000	LMNA	ORPHA:98853
HP:0002987	Elbow flexion contracture	6840	SVIL	OMIM:619040
HP:0002987	Elbow flexion contracture	1836	SLC26A2	ORPHA:56304
HP:0002987	Elbow flexion contracture	1836	SLC26A2	ORPHA:93307
HP:0002987	Elbow flexion contracture	55315	SLC29A3	OMIM:602782
HP:0002987	Elbow flexion contracture	825	CAPN3	ORPHA:267
HP:0002987	Elbow flexion contracture	91179	SCARF2	OMIM:600920
HP:0002987	Elbow flexion contracture	3714	JAG2	OMIM:619566
HP:0002987	Elbow flexion contracture	6536	SLC6A9	OMIM:617301
HP:0002987	Elbow flexion contracture	2201	FBN2	OMIM:121050
HP:0002987	Elbow flexion contracture	5831	PYCR1	OMIM:614438
HP:0002987	Elbow flexion contracture	2067	ERCC1	OMIM:610758
HP:0002987	Elbow flexion contracture	2316	FLNA	OMIM:305620
HP:0002987	Elbow flexion contracture	2316	FLNA	ORPHA:1826
HP:0002987	Elbow flexion contracture	4621	MYH3	OMIM:193700
HP:0002987	Elbow flexion contracture	4621	MYH3	OMIM:178110
HP:0002987	Elbow flexion contracture	2010	EMD	OMIM:310300
HP:0002987	Elbow flexion contracture	2010	EMD	ORPHA:98863
HP:0002987	Elbow flexion contracture	5351	PLOD1	ORPHA:1900
HP:0002987	Elbow flexion contracture	7020	TFAP2A	OMIM:113620
HP:0002987	Elbow flexion contracture	6926	TBX3	OMIM:181450
HP:0002987	Elbow flexion contracture	4633	MYL2	ORPHA:2020
HP:0002987	Elbow flexion contracture	3679	ITGA7	ORPHA:2020
HP:0002987	Elbow flexion contracture	7169	TPM2	ORPHA:2020
HP:0002987	Elbow flexion contracture	7169	TPM2	OMIM:108120
HP:0002987	Elbow flexion contracture	9200	HACD1	ORPHA:2020
HP:0002987	Elbow flexion contracture	7170	TPM3	ORPHA:2020
HP:0002987	Elbow flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0002987	Elbow flexion contracture	3977	LIFR	OMIM:601559
HP:0002987	Elbow flexion contracture	3977	LIFR	ORPHA:3206
HP:0002987	Elbow flexion contracture	127833	SYT2	OMIM:619461
HP:0002987	Elbow flexion contracture	54681	P4HTM	OMIM:618493
HP:0002987	Elbow flexion contracture	5277	PIGA	OMIM:300868
HP:0002987	Elbow flexion contracture	8985	PLOD3	OMIM:612394
HP:0002987	Elbow flexion contracture	545	ATR	OMIM:210600
HP:0002987	Elbow flexion contracture	6023	RMRP	OMIM:607095
HP:0002987	Elbow flexion contracture	3908	LAMA2	OMIM:618138
HP:0002987	Elbow flexion contracture	2783	GNB2	OMIM:619503
HP:0002987	Elbow flexion contracture	4632	MYL1	OMIM:618414
HP:0002987	Elbow flexion contracture	9244	CRLF1	OMIM:272430
HP:0002987	Elbow flexion contracture	2074	ERCC6	OMIM:214150
HP:0002987	Elbow flexion contracture	9653	HS2ST1	OMIM:619194
HP:0002987	Elbow flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0002987	Elbow flexion contracture	59341	TRPV4	OMIM:600175
HP:0002987	Elbow flexion contracture	59341	TRPV4	OMIM:184252
HP:0002987	Elbow flexion contracture	84065	TMEM222	OMIM:619470
HP:0002987	Elbow flexion contracture	3835	KIF22	ORPHA:93360
HP:0002987	Elbow flexion contracture	9791	PTDSS1	OMIM:151050
HP:0002987	Elbow flexion contracture	5307	PITX1	OMIM:186550
HP:0002987	Elbow flexion contracture	6628	SNRPB	OMIM:117650
HP:0002987	Elbow flexion contracture	29895	MYL11	OMIM:619110
HP:0002987	Elbow flexion contracture	340419	RSPO2	OMIM:618022
HP:0002987	Elbow flexion contracture	1861	TOR1A	OMIM:618947
HP:0002987	Elbow flexion contracture	23233	EXOC6B	ORPHA:93359
HP:0002987	Elbow flexion contracture	126792	B3GALT6	ORPHA:93359
HP:0002987	Elbow flexion contracture	259232	NALCN	ORPHA:371364
HP:0002987	Elbow flexion contracture	259232	NALCN	OMIM:616266
HP:0002987	Elbow flexion contracture	285175	UNC80	ORPHA:371364
HP:0002987	Elbow flexion contracture	84992	PIGY	OMIM:616809
HP:0002987	Elbow flexion contracture	2200	FBN1	OMIM:608328
HP:0002987	Elbow flexion contracture	2200	FBN1	OMIM:184900
HP:0002987	Elbow flexion contracture	2222	FDFT1	OMIM:618156
HP:0002987	Elbow flexion contracture	163175	LGI4	OMIM:617468
HP:0002987	Elbow flexion contracture	60681	FKBP10	OMIM:259450
HP:0002987	Elbow flexion contracture	2799	GNS	OMIM:252940
HP:0002987	Elbow flexion contracture	9215	LARGE1	OMIM:608840
HP:0002987	Elbow flexion contracture	1376	CPT2	OMIM:608836
HP:0002987	Elbow flexion contracture	342035	GLDN	OMIM:617194
HP:0002987	Elbow flexion contracture	339855	KY	OMIM:617114
HP:0002987	Elbow flexion contracture	5286	PIK3C2A	OMIM:618440
HP:0002987	Elbow flexion contracture	7317	UBA1	ORPHA:1145
HP:0002987	Elbow flexion contracture	25836	NIPBL	OMIM:122470
HP:0002987	Elbow flexion contracture	23219	FBXO28	OMIM:619777
HP:0002987	Elbow flexion contracture	55681	SCYL2	ORPHA:1143
HP:0002987	Elbow flexion contracture	84570	COL25A1	ORPHA:1143
HP:0002987	Elbow flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0002987	Elbow flexion contracture	7476	WNT7A	OMIM:276820
HP:0002987	Elbow flexion contracture	6885	MAP3K7	ORPHA:1826
HP:0002987	Elbow flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0002987	Elbow flexion contracture	5832	ALDH18A1	ORPHA:447757
HP:0002987	Elbow flexion contracture	2273	FHL1	ORPHA:98863
HP:0002987	Elbow flexion contracture	6913	TBX15	ORPHA:93333
HP:0002987	Elbow flexion contracture	157570	ESCO2	OMIM:268300
HP:0002987	Elbow flexion contracture	9469	CHST3	OMIM:245600
HP:0002987	Elbow flexion contracture	26229	B3GAT3	OMIM:245600
HP:0002987	Elbow flexion contracture	91137	SLC25A46	OMIM:619303
HP:0002987	Elbow flexion contracture	9427	ECEL1	OMIM:615065
HP:0002987	Elbow flexion contracture	2706	GJB2	OMIM:148210
HP:0002987	Elbow flexion contracture	5696	PSMB8	OMIM:256040
HP:0002987	Elbow flexion contracture	1756	DMD	ORPHA:206546
HP:0002987	Elbow flexion contracture	79188	TMEM43	ORPHA:98853
HP:0002987	Elbow flexion contracture	23345	SYNE1	ORPHA:98853
HP:0002987	Elbow flexion contracture	23224	SYNE2	ORPHA:98853
HP:0002987	Elbow flexion contracture	203859	ANO5	ORPHA:206549
HP:0003938	Synostosis involving the elbow	9791	PTDSS1	OMIM:151050
HP:0003938	Synostosis involving the elbow	6913	TBX15	OMIM:260660
HP:0003938	Synostosis involving the elbow	6913	TBX15	ORPHA:93333
HP:0003938	Synostosis involving the elbow	5447	POR	OMIM:201750
HP:0003938	Synostosis involving the elbow	5447	POR	OMIM:207410
HP:0003938	Synostosis involving the elbow	5447	POR	ORPHA:95699
HP:0003938	Synostosis involving the elbow	9241	NOG	OMIM:186570
HP:0003938	Synostosis involving the elbow	2260	FGFR1	OMIM:101600
HP:0003938	Synostosis involving the elbow	2263	FGFR2	OMIM:101600
HP:0003938	Synostosis involving the elbow	2263	FGFR2	OMIM:207410
HP:0003938	Synostosis involving the elbow	2263	FGFR2	OMIM:101200
HP:0003938	Synostosis involving the elbow	7476	WNT7A	ORPHA:2879
HP:0003938	Synostosis involving the elbow	7476	WNT7A	OMIM:276820
HP:0003938	Synostosis involving the elbow	56603	CYP26B1	OMIM:614416
HP:0003938	Synostosis involving the elbow	2254	FGF9	OMIM:612961
HP:0003938	Synostosis involving the elbow	8200	GDF5	OMIM:610017
HP:0003938	Synostosis involving the elbow	29980	DONSON	OMIM:251230
HP:0003940	Osteoarthritis of the elbow	10216	PRG4	ORPHA:2848
HP:0003941	Stippled calcification of the elbow	5167	ENPP1	ORPHA:51608
HP:0003941	Stippled calcification of the elbow	368	ABCC6	ORPHA:51608
HP:0003943	Abnormality of the joint spaces of the elbow	6913	TBX15	ORPHA:93333
HP:0003943	Abnormality of the joint spaces of the elbow	2887	GRB10	ORPHA:96182
HP:0003944	Narrow joint spaces of the elbow	2887	GRB10	ORPHA:96182
HP:0003946	Abnormality of the epiphyses of the elbow	1297	COL9A1	ORPHA:166002
HP:0003946	Abnormality of the epiphyses of the elbow	1298	COL9A2	ORPHA:166002
HP:0003946	Abnormality of the epiphyses of the elbow	1299	COL9A3	ORPHA:166002
HP:0003953	Absent forearm bone	57167	SALL4	ORPHA:233
HP:0003953	Absent forearm bone	57167	SALL4	OMIM:607323
HP:0003953	Absent forearm bone	9935	MAFB	ORPHA:233
HP:0003953	Absent forearm bone	1123	CHN1	ORPHA:233
HP:0003953	Absent forearm bone	2177	FANCD2	OMIM:227646
HP:0003953	Absent forearm bone	2176	FANCC	OMIM:227645
HP:0003953	Absent forearm bone	10262	SF3B4	OMIM:154400
HP:0003953	Absent forearm bone	55120	FANCL	OMIM:614083
HP:0003953	Absent forearm bone	2263	FGFR2	OMIM:149730
HP:0003953	Absent forearm bone	2317	FLNB	ORPHA:56305
HP:0003953	Absent forearm bone	2317	FLNB	OMIM:112310
HP:0003953	Absent forearm bone	9401	RECQL4	OMIM:218600
HP:0003953	Absent forearm bone	7547	ZIC3	OMIM:314390
HP:0003953	Absent forearm bone	2178	FANCE	OMIM:600901
HP:0003953	Absent forearm bone	54101	RIPK4	OMIM:263650
HP:0003953	Absent forearm bone	2175	FANCA	OMIM:227650
HP:0003953	Absent forearm bone	7516	XRCC2	OMIM:617247
HP:0003953	Absent forearm bone	55636	CHD7	OMIM:214800
HP:0003953	Absent forearm bone	29980	DONSON	OMIM:251230
HP:0003953	Absent forearm bone	2737	GLI3	ORPHA:93322
HP:0003953	Absent forearm bone	157570	ESCO2	OMIM:268300
HP:0003953	Absent forearm bone	6910	TBX5	OMIM:142900
HP:0003953	Absent forearm bone	7476	WNT7A	ORPHA:2879
HP:0003953	Absent forearm bone	7476	WNT7A	OMIM:276820
HP:0003953	Absent forearm bone	64327	LMBR1	OMIM:200500
HP:0003953	Absent forearm bone	64327	LMBR1	ORPHA:931
HP:0003953	Absent forearm bone	6926	TBX3	OMIM:181450
HP:0003953	Absent forearm bone	9939	RBM8A	OMIM:274000
HP:0003953	Absent forearm bone	2187	FANCB	OMIM:300514
HP:0003953	Absent forearm bone	6154	RPL26	OMIM:614900
HP:0003953	Absent forearm bone	7204	TRIO	ORPHA:476126
HP:0003956	Bowed forearm bones	2737	GLI3	ORPHA:672
HP:0003956	Bowed forearm bones	4920	ROR2	OMIM:268310
HP:0003956	Bowed forearm bones	4882	NPR2	OMIM:602875
HP:0003956	Bowed forearm bones	1280	COL2A1	OMIM:151210
HP:0003956	Bowed forearm bones	7476	WNT7A	OMIM:228930
HP:0003956	Bowed forearm bones	7476	WNT7A	ORPHA:2879
HP:0003956	Bowed forearm bones	7476	WNT7A	OMIM:276820
HP:0003956	Bowed forearm bones	8074	FGF23	OMIM:617993
HP:0003956	Bowed forearm bones	8200	GDF5	OMIM:201250
HP:0003956	Bowed forearm bones	2317	FLNB	OMIM:108721
HP:0003956	Bowed forearm bones	2317	FLNB	OMIM:108720
HP:0003956	Bowed forearm bones	59341	TRPV4	ORPHA:93314
HP:0003956	Bowed forearm bones	91147	TMEM67	OMIM:602152
HP:0003956	Bowed forearm bones	3549	IHH	OMIM:607778
HP:0003956	Bowed forearm bones	567	B2M	OMIM:241600
HP:0003956	Bowed forearm bones	3930	LBR	OMIM:618019
HP:0003956	Bowed forearm bones	64175	P3H1	OMIM:610915
HP:0003956	Bowed forearm bones	126792	B3GALT6	OMIM:271640
HP:0003956	Bowed forearm bones	4322	MMP13	OMIM:602111
HP:0003956	Bowed forearm bones	9401	RECQL4	OMIM:218600
HP:0003956	Bowed forearm bones	6473	SHOX	ORPHA:240
HP:0003956	Bowed forearm bones	1301	COL11A1	OMIM:154780
HP:0003956	Bowed forearm bones	57020	VPS35L	OMIM:619135
HP:0003956	Bowed forearm bones	5447	POR	OMIM:201750
HP:0003956	Bowed forearm bones	5447	POR	OMIM:207410
HP:0003956	Bowed forearm bones	91179	SCARF2	OMIM:600920
HP:0003956	Bowed forearm bones	54101	RIPK4	OMIM:263650
HP:0003956	Bowed forearm bones	112752	IFT43	OMIM:617866
HP:0003956	Bowed forearm bones	9469	CHST3	OMIM:143095
HP:0003956	Bowed forearm bones	1836	SLC26A2	ORPHA:93307
HP:0003956	Bowed forearm bones	2263	FGFR2	OMIM:207410
HP:0003956	Bowed forearm bones	2261	FGFR3	OMIM:100800
HP:0003956	Bowed forearm bones	5593	PRKG2	OMIM:619636
HP:0003956	Bowed forearm bones	5116	PCNT	OMIM:210720
HP:0003956	Bowed forearm bones	2316	FLNA	OMIM:304120
HP:0003956	Bowed forearm bones	9939	RBM8A	OMIM:274000
HP:0003956	Bowed forearm bones	3207	HOXA11	OMIM:605432
HP:0003956	Bowed forearm bones	3911	LAMA5	OMIM:620076
HP:0003956	Bowed forearm bones	22858	CILK1	OMIM:612651
HP:0003959	Deformed forearm bones	2131	EXT1	ORPHA:321
HP:0003959	Deformed forearm bones	2132	EXT2	ORPHA:321
HP:0003959	Deformed forearm bones	6926	TBX3	OMIM:181450
HP:0003961	Fractured forearm bones	202018	TAPT1	OMIM:616897
HP:0002974	Radioulnar synostosis	23476	BRD4	ORPHA:199
HP:0002974	Radioulnar synostosis	9126	SMC3	ORPHA:199
HP:0002974	Radioulnar synostosis	8243	SMC1A	ORPHA:199
HP:0002974	Radioulnar synostosis	25836	NIPBL	ORPHA:199
HP:0002974	Radioulnar synostosis	55869	HDAC8	ORPHA:199
HP:0002974	Radioulnar synostosis	5885	RAD21	ORPHA:199
HP:0002974	Radioulnar synostosis	5885	RAD21	OMIM:614701
HP:0002974	Radioulnar synostosis	11285	B4GALT7	OMIM:130070
HP:0002974	Radioulnar synostosis	4091	SMAD6	OMIM:179300
HP:0002974	Radioulnar synostosis	10262	SF3B4	OMIM:154400
HP:0002974	Radioulnar synostosis	10262	SF3B4	ORPHA:1788
HP:0002974	Radioulnar synostosis	5447	POR	OMIM:201750
HP:0002974	Radioulnar synostosis	5447	POR	ORPHA:95699
HP:0002974	Radioulnar synostosis	6910	TBX5	ORPHA:392
HP:0002974	Radioulnar synostosis	57167	SALL4	OMIM:147750
HP:0002974	Radioulnar synostosis	57167	SALL4	ORPHA:2307
HP:0002974	Radioulnar synostosis	5648	MASP1	OMIM:257920
HP:0002974	Radioulnar synostosis	5648	MASP1	ORPHA:293843
HP:0002974	Radioulnar synostosis	6154	RPL26	OMIM:614900
HP:0002974	Radioulnar synostosis	6804	STX1A	ORPHA:904
HP:0002974	Radioulnar synostosis	7461	CLIP2	ORPHA:904
HP:0002974	Radioulnar synostosis	84277	DNAJC30	ORPHA:904
HP:0002974	Radioulnar synostosis	8468	FKBP6	ORPHA:904
HP:0002974	Radioulnar synostosis	5982	RFC2	ORPHA:904
HP:0002974	Radioulnar synostosis	2969	GTF2I	ORPHA:904
HP:0002974	Radioulnar synostosis	3984	LIMK1	ORPHA:904
HP:0002974	Radioulnar synostosis	9569	GTF2IRD1	ORPHA:904
HP:0002974	Radioulnar synostosis	155382	VPS37D	ORPHA:904
HP:0002974	Radioulnar synostosis	155368	METTL27	ORPHA:904
HP:0002974	Radioulnar synostosis	114049	BUD23	ORPHA:904
HP:0002974	Radioulnar synostosis	7458	EIF4H	ORPHA:904
HP:0002974	Radioulnar synostosis	84163	GTF2IRD2	ORPHA:904
HP:0002974	Radioulnar synostosis	9275	BCL7B	ORPHA:904
HP:0002974	Radioulnar synostosis	26608	TBL2	ORPHA:904
HP:0002974	Radioulnar synostosis	653361	NCF1	ORPHA:904
HP:0002974	Radioulnar synostosis	135886	TMEM270	ORPHA:904
HP:0002974	Radioulnar synostosis	51085	MLXIPL	ORPHA:904
HP:0002974	Radioulnar synostosis	51085	MLXIPL	OMIM:194050
HP:0002974	Radioulnar synostosis	9031	BAZ1B	ORPHA:904
HP:0002974	Radioulnar synostosis	2006	ELN	ORPHA:904
HP:0002974	Radioulnar synostosis	2006	ELN	OMIM:194050
HP:0002974	Radioulnar synostosis	2122	MECOM	ORPHA:71289
HP:0002974	Radioulnar synostosis	2122	MECOM	OMIM:616738
HP:0002974	Radioulnar synostosis	157570	ESCO2	ORPHA:3103
HP:0002974	Radioulnar synostosis	157570	ESCO2	ORPHA:2319
HP:0002974	Radioulnar synostosis	78989	COLEC11	OMIM:265050
HP:0002974	Radioulnar synostosis	78989	COLEC11	ORPHA:293843
HP:0002974	Radioulnar synostosis	54880	BCOR	OMIM:300166
HP:0002974	Radioulnar synostosis	54880	BCOR	ORPHA:2712
HP:0002974	Radioulnar synostosis	4094	MAF	ORPHA:1272
HP:0002974	Radioulnar synostosis	4094	MAF	OMIM:601088
HP:0002974	Radioulnar synostosis	29998	BICRA	OMIM:619325
HP:0002974	Radioulnar synostosis	23522	KAT6B	ORPHA:85201
HP:0002974	Radioulnar synostosis	23522	KAT6B	OMIM:606170
HP:0002974	Radioulnar synostosis	1723	DHODH	OMIM:263750
HP:0002974	Radioulnar synostosis	4038	LRP4	ORPHA:3258
HP:0002974	Radioulnar synostosis	4038	LRP4	OMIM:212780
HP:0002974	Radioulnar synostosis	324	APC	ORPHA:3258
HP:0002974	Radioulnar synostosis	63895	PIEZO2	OMIM:248700
HP:0002974	Radioulnar synostosis	63895	PIEZO2	ORPHA:2461
HP:0002974	Radioulnar synostosis	10584	COLEC10	OMIM:248340
HP:0002974	Radioulnar synostosis	10584	COLEC10	ORPHA:293843
HP:0002974	Radioulnar synostosis	50945	TBX22	OMIM:302905
HP:0002974	Radioulnar synostosis	50945	TBX22	ORPHA:921
HP:0002974	Radioulnar synostosis	22800	RRAS2	ORPHA:648
HP:0002974	Radioulnar synostosis	867	CBL	ORPHA:648
HP:0002974	Radioulnar synostosis	8216	LZTR1	ORPHA:648
HP:0002974	Radioulnar synostosis	6016	RIT1	ORPHA:648
HP:0002974	Radioulnar synostosis	6237	RRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	5894	RAF1	ORPHA:648
HP:0002974	Radioulnar synostosis	22808	MRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	3845	KRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	200734	SPRED2	ORPHA:648
HP:0002974	Radioulnar synostosis	4893	NRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	6654	SOS1	ORPHA:648
HP:0002974	Radioulnar synostosis	6655	SOS2	ORPHA:648
HP:0002974	Radioulnar synostosis	5781	PTPN11	ORPHA:648
HP:0002974	Radioulnar synostosis	5922	RASA2	ORPHA:648
HP:0002974	Radioulnar synostosis	64131	XYLT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	124583	CANT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	55790	CSGALNACT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	9469	CHST3	OMIM:245600
HP:0002974	Radioulnar synostosis	26229	B3GAT3	OMIM:245600
HP:0002974	Radioulnar synostosis	29980	DONSON	OMIM:617604
HP:0002974	Radioulnar synostosis	53834	FGFRL1	OMIM:194190
HP:0002974	Radioulnar synostosis	1487	CTBP1	OMIM:194190
HP:0002974	Radioulnar synostosis	3954	LETM1	OMIM:194190
HP:0002974	Radioulnar synostosis	7468	NSD2	OMIM:194190
HP:0002974	Radioulnar synostosis	10815	CPLX1	OMIM:194190
HP:0002974	Radioulnar synostosis	26040	SETBP1	ORPHA:798
HP:0002974	Radioulnar synostosis	7291	TWIST1	ORPHA:794
HP:0002974	Radioulnar synostosis	2263	FGFR2	ORPHA:794
HP:0002974	Radioulnar synostosis	2261	FGFR3	ORPHA:794
HP:0002974	Radioulnar synostosis	3207	HOXA11	OMIM:605432
HP:0002974	Radioulnar synostosis	126792	B3GALT6	OMIM:609465
HP:0002974	Radioulnar synostosis	22856	CHSY1	ORPHA:363417
HP:0003967	Sclerotic forearm bones	8792	TNFRSF11A	OMIM:602080
HP:0009821	Forearm undergrowth	9935	MAFB	ORPHA:233
HP:0009821	Forearm undergrowth	1123	CHN1	ORPHA:233
HP:0009821	Forearm undergrowth	4882	NPR2	OMIM:602875
HP:0009821	Forearm undergrowth	10262	SF3B4	OMIM:154400
HP:0009821	Forearm undergrowth	10262	SF3B4	ORPHA:245
HP:0009821	Forearm undergrowth	28981	IFT81	OMIM:617895
HP:0009821	Forearm undergrowth	92002	CCNQ	ORPHA:140952
HP:0009821	Forearm undergrowth	2261	FGFR3	ORPHA:2363
HP:0009821	Forearm undergrowth	2255	FGF10	ORPHA:2363
HP:0009821	Forearm undergrowth	9321	TRIP11	OMIM:200600
HP:0009821	Forearm undergrowth	7476	WNT7A	OMIM:228930
HP:0009821	Forearm undergrowth	7476	WNT7A	ORPHA:2879
HP:0009821	Forearm undergrowth	7476	WNT7A	OMIM:276820
HP:0009821	Forearm undergrowth	25836	NIPBL	OMIM:122470
HP:0009821	Forearm undergrowth	6223	RPS19	OMIM:105650
HP:0009821	Forearm undergrowth	79087	ALG12	OMIM:607143
HP:0009821	Forearm undergrowth	9775	EIF4A3	OMIM:268305
HP:0009821	Forearm undergrowth	1280	COL2A1	OMIM:271700
HP:0009821	Forearm undergrowth	1280	COL2A1	ORPHA:1856
HP:0009821	Forearm undergrowth	5573	PRKAR1A	ORPHA:950
HP:0009821	Forearm undergrowth	5144	PDE4D	ORPHA:950
HP:0009821	Forearm undergrowth	8200	GDF5	OMIM:200700
HP:0009821	Forearm undergrowth	8200	GDF5	ORPHA:93388
HP:0009821	Forearm undergrowth	8200	GDF5	OMIM:201250
HP:0009821	Forearm undergrowth	79659	DYNC2H1	OMIM:613091
HP:0009821	Forearm undergrowth	51604	PIGT	OMIM:615398
HP:0009821	Forearm undergrowth	57167	SALL4	OMIM:147750
HP:0009821	Forearm undergrowth	57167	SALL4	OMIM:607323
HP:0009821	Forearm undergrowth	57167	SALL4	ORPHA:959
HP:0009821	Forearm undergrowth	2263	FGFR2	OMIM:149730
HP:0009821	Forearm undergrowth	9820	CUL7	ORPHA:2616
HP:0009821	Forearm undergrowth	23363	OBSL1	ORPHA:2616
HP:0009821	Forearm undergrowth	83987	CCDC8	ORPHA:2616
HP:0009821	Forearm undergrowth	6154	RPL26	OMIM:614900
HP:0009821	Forearm undergrowth	6473	SHOX	OMIM:127300
HP:0009821	Forearm undergrowth	6473	SHOX	OMIM:249700
HP:0009821	Forearm undergrowth	6473	SHOX	ORPHA:240
HP:0009821	Forearm undergrowth	145258	GSC	OMIM:602471
HP:0009821	Forearm undergrowth	23233	EXOC6B	OMIM:618395
HP:0009821	Forearm undergrowth	1723	DHODH	OMIM:263750
HP:0009821	Forearm undergrowth	1723	DHODH	ORPHA:246
HP:0009821	Forearm undergrowth	182	JAG1	OMIM:118450
HP:0009821	Forearm undergrowth	4038	LRP4	ORPHA:3258
HP:0009821	Forearm undergrowth	4038	LRP4	OMIM:212780
HP:0009821	Forearm undergrowth	324	APC	ORPHA:3258
HP:0009821	Forearm undergrowth	3549	IHH	ORPHA:93388
HP:0009821	Forearm undergrowth	3549	IHH	OMIM:607778
HP:0009821	Forearm undergrowth	658	BMPR1B	ORPHA:93388
HP:0009821	Forearm undergrowth	658	BMPR1B	OMIM:609441
HP:0009821	Forearm undergrowth	57020	VPS35L	OMIM:619135
HP:0009821	Forearm undergrowth	9469	CHST3	OMIM:143095
HP:0009821	Forearm undergrowth	672	BRCA1	ORPHA:84
HP:0009821	Forearm undergrowth	10459	MAD2L2	ORPHA:84
HP:0009821	Forearm undergrowth	7516	XRCC2	ORPHA:84
HP:0009821	Forearm undergrowth	29089	UBE2T	ORPHA:84
HP:0009821	Forearm undergrowth	675	BRCA2	ORPHA:84
HP:0009821	Forearm undergrowth	55120	FANCL	ORPHA:84
HP:0009821	Forearm undergrowth	2177	FANCD2	ORPHA:84
HP:0009821	Forearm undergrowth	2175	FANCA	ORPHA:84
HP:0009821	Forearm undergrowth	2187	FANCB	ORPHA:84
HP:0009821	Forearm undergrowth	2176	FANCC	ORPHA:84
HP:0009821	Forearm undergrowth	2178	FANCE	ORPHA:84
HP:0009821	Forearm undergrowth	2188	FANCF	ORPHA:84
HP:0009821	Forearm undergrowth	2189	FANCG	ORPHA:84
HP:0009821	Forearm undergrowth	5888	RAD51	ORPHA:84
HP:0009821	Forearm undergrowth	5889	RAD51C	ORPHA:84
HP:0009821	Forearm undergrowth	55159	RFWD3	ORPHA:84
HP:0009821	Forearm undergrowth	83990	BRIP1	ORPHA:84
HP:0009821	Forearm undergrowth	57697	FANCM	ORPHA:84
HP:0009821	Forearm undergrowth	79728	PALB2	ORPHA:84
HP:0009821	Forearm undergrowth	84464	SLX4	ORPHA:84
HP:0009821	Forearm undergrowth	2072	ERCC4	ORPHA:84
HP:0009821	Forearm undergrowth	55215	FANCI	ORPHA:84
HP:0009821	Forearm undergrowth	9939	RBM8A	OMIM:274000
HP:0009821	Forearm undergrowth	9241	NOG	OMIM:186500
HP:0009821	Forearm undergrowth	157570	ESCO2	OMIM:268300
HP:0009821	Forearm undergrowth	6910	TBX5	OMIM:142900
HP:0009821	Forearm undergrowth	9401	RECQL4	OMIM:218600
HP:0009821	Forearm undergrowth	6926	TBX3	OMIM:181450
HP:0009821	Forearm undergrowth	567	B2M	OMIM:241600
HP:0009821	Forearm undergrowth	55636	CHD7	OMIM:214800
HP:0009821	Forearm undergrowth	91179	SCARF2	OMIM:600920
HP:0009821	Forearm undergrowth	4920	ROR2	OMIM:268310
HP:0009821	Forearm undergrowth	545	ATR	OMIM:210600
HP:0009821	Forearm undergrowth	27125	AFF4	ORPHA:444077
HP:0009821	Forearm undergrowth	8241	RBM10	ORPHA:2886
HP:0009821	Forearm undergrowth	2131	EXT1	ORPHA:321
HP:0009821	Forearm undergrowth	2132	EXT2	ORPHA:321
HP:0009821	Forearm undergrowth	29980	DONSON	OMIM:251230
HP:0003969	Slender forearm bones	25782	RAB3GAP2	OMIM:212720
HP:0003971	Broad forearm bones	6473	SHOX	OMIM:249700
HP:0006439	Radioulnar dislocation	23233	EXOC6B	ORPHA:93359
HP:0006439	Radioulnar dislocation	126792	B3GALT6	ORPHA:93359
HP:0006439	Radioulnar dislocation	165	AEBP1	ORPHA:536532
HP:0006439	Radioulnar dislocation	124583	CANT1	OMIM:251450
HP:0006439	Radioulnar dislocation	5447	POR	ORPHA:95699
HP:0003974	Absent radius	57167	SALL4	ORPHA:233
HP:0003974	Absent radius	57167	SALL4	OMIM:607323
HP:0003974	Absent radius	9935	MAFB	ORPHA:233
HP:0003974	Absent radius	1123	CHN1	ORPHA:233
HP:0003974	Absent radius	64327	LMBR1	OMIM:200500
HP:0003974	Absent radius	64327	LMBR1	ORPHA:2378
HP:0003974	Absent radius	64327	LMBR1	OMIM:135750
HP:0003974	Absent radius	64327	LMBR1	ORPHA:931
HP:0003974	Absent radius	2177	FANCD2	OMIM:227646
HP:0003974	Absent radius	2176	FANCC	OMIM:227645
HP:0003974	Absent radius	10262	SF3B4	OMIM:154400
HP:0003974	Absent radius	55120	FANCL	OMIM:614083
HP:0003974	Absent radius	2263	FGFR2	OMIM:149730
HP:0003974	Absent radius	157570	ESCO2	OMIM:268300
HP:0003974	Absent radius	2317	FLNB	ORPHA:56305
HP:0003974	Absent radius	2317	FLNB	OMIM:112310
HP:0003974	Absent radius	6910	TBX5	OMIM:142900
HP:0003974	Absent radius	9401	RECQL4	OMIM:218600
HP:0003974	Absent radius	6926	TBX3	OMIM:181450
HP:0003974	Absent radius	7547	ZIC3	OMIM:314390
HP:0003974	Absent radius	2178	FANCE	OMIM:600901
HP:0003974	Absent radius	54101	RIPK4	OMIM:263650
HP:0003974	Absent radius	2175	FANCA	OMIM:227650
HP:0003974	Absent radius	7516	XRCC2	OMIM:617247
HP:0003974	Absent radius	55636	CHD7	OMIM:214800
HP:0003974	Absent radius	29980	DONSON	OMIM:251230
HP:0003974	Absent radius	2737	GLI3	ORPHA:93322
HP:0003974	Absent radius	9939	RBM8A	OMIM:274000
HP:0003974	Absent radius	2187	FANCB	OMIM:300514
HP:0003974	Absent radius	6154	RPL26	OMIM:614900
HP:0003974	Absent radius	7204	TRIO	ORPHA:476126
HP:0004000	Cone-shaped distal radial epiphysis	633	BGN	OMIM:300106
HP:0003977	Deformed radius	2131	EXT1	ORPHA:321
HP:0003977	Deformed radius	2132	EXT2	ORPHA:321
HP:0003977	Deformed radius	6926	TBX3	OMIM:181450
HP:0003978	Fractured radius	202018	TAPT1	OMIM:616897
HP:0003982	Aplasia of the ulna	157570	ESCO2	OMIM:268300
HP:0003982	Aplasia of the ulna	6910	TBX5	OMIM:142900
HP:0003982	Aplasia of the ulna	7476	WNT7A	ORPHA:2879
HP:0003982	Aplasia of the ulna	7476	WNT7A	OMIM:276820
HP:0003982	Aplasia of the ulna	64327	LMBR1	OMIM:200500
HP:0003982	Aplasia of the ulna	64327	LMBR1	ORPHA:931
HP:0003982	Aplasia of the ulna	6926	TBX3	OMIM:181450
HP:0003031	Ulnar bowing	4322	MMP13	OMIM:602111
HP:0003031	Ulnar bowing	9401	RECQL4	OMIM:218600
HP:0003031	Ulnar bowing	6473	SHOX	ORPHA:240
HP:0003031	Ulnar bowing	1301	COL11A1	OMIM:154780
HP:0003031	Ulnar bowing	57020	VPS35L	OMIM:619135
HP:0003031	Ulnar bowing	5447	POR	OMIM:201750
HP:0003031	Ulnar bowing	5447	POR	OMIM:207410
HP:0003031	Ulnar bowing	91179	SCARF2	OMIM:600920
HP:0003031	Ulnar bowing	54101	RIPK4	OMIM:263650
HP:0003031	Ulnar bowing	112752	IFT43	OMIM:617866
HP:0003031	Ulnar bowing	9469	CHST3	OMIM:143095
HP:0003031	Ulnar bowing	1836	SLC26A2	ORPHA:93307
HP:0003031	Ulnar bowing	2263	FGFR2	OMIM:207410
HP:0003031	Ulnar bowing	2261	FGFR3	OMIM:100800
HP:0003031	Ulnar bowing	5593	PRKG2	OMIM:619636
HP:0003031	Ulnar bowing	5116	PCNT	OMIM:210720
HP:0003031	Ulnar bowing	2316	FLNA	OMIM:304120
HP:0003031	Ulnar bowing	9939	RBM8A	OMIM:274000
HP:0003031	Ulnar bowing	3207	HOXA11	OMIM:605432
HP:0003031	Ulnar bowing	3911	LAMA5	OMIM:620076
HP:0003988	Long ulna	633	BGN	OMIM:300106
HP:0003991	Osteosclerosis of the ulna	8792	TNFRSF11A	OMIM:602080
HP:0003992	Slender ulna	25782	RAB3GAP2	OMIM:212720
HP:0003993	Broad ulna	6473	SHOX	OMIM:249700
HP:0003994	Dislocated wrist	2317	FLNB	OMIM:150250
HP:0003994	Dislocated wrist	165	AEBP1	ORPHA:536532
HP:0003995	Abnormality of the radial head	11285	B4GALT7	OMIM:130070
HP:0003995	Abnormality of the radial head	1182	CLCN3	OMIM:619512
HP:0003995	Abnormality of the radial head	85301	COL27A1	OMIM:615155
HP:0003995	Abnormality of the radial head	1387	CREBBP	OMIM:180849
HP:0003995	Abnormality of the radial head	2033	EP300	OMIM:180849
HP:0003995	Abnormality of the radial head	23233	EXOC6B	ORPHA:93359
HP:0003995	Abnormality of the radial head	23233	EXOC6B	OMIM:618395
HP:0003995	Abnormality of the radial head	126792	B3GALT6	ORPHA:93359
HP:0003995	Abnormality of the radial head	126792	B3GALT6	OMIM:271640
HP:0003995	Abnormality of the radial head	4010	LMX1B	ORPHA:2614
HP:0003995	Abnormality of the radial head	6885	MAP3K7	OMIM:617137
HP:0003995	Abnormality of the radial head	6885	MAP3K7	ORPHA:1826
HP:0003995	Abnormality of the radial head	145258	GSC	OMIM:602471
HP:0003995	Abnormality of the radial head	10847	SRCAP	OMIM:136140
HP:0003995	Abnormality of the radial head	10847	SRCAP	ORPHA:2044
HP:0003995	Abnormality of the radial head	91179	SCARF2	OMIM:600920
HP:0003995	Abnormality of the radial head	8318	CDC45	OMIM:617063
HP:0003995	Abnormality of the radial head	2137	EXTL3	OMIM:617425
HP:0003995	Abnormality of the radial head	6662	SOX9	OMIM:114290
HP:0003995	Abnormality of the radial head	10225	CD96	OMIM:211750
HP:0003995	Abnormality of the radial head	10225	CD96	ORPHA:1308
HP:0003995	Abnormality of the radial head	2067	ERCC1	OMIM:610758
HP:0003995	Abnormality of the radial head	2535	FZD2	OMIM:164745
HP:0003995	Abnormality of the radial head	4920	ROR2	OMIM:268310
HP:0003995	Abnormality of the radial head	1146	CHRNG	OMIM:265000
HP:0003995	Abnormality of the radial head	6497	SKI	OMIM:182212
HP:0003995	Abnormality of the radial head	2316	FLNA	OMIM:305620
HP:0003995	Abnormality of the radial head	2316	FLNA	ORPHA:1826
HP:0003995	Abnormality of the radial head	2316	FLNA	OMIM:311300
HP:0003995	Abnormality of the radial head	3835	KIF22	OMIM:603546
HP:0003995	Abnormality of the radial head	57492	ARID1B	OMIM:135900
HP:0003995	Abnormality of the radial head	3899	AFF3	OMIM:619297
HP:0003995	Abnormality of the radial head	9469	CHST3	OMIM:143095
HP:0003995	Abnormality of the radial head	9469	CHST3	OMIM:245600
HP:0003995	Abnormality of the radial head	4853	NOTCH2	OMIM:102500
HP:0003995	Abnormality of the radial head	25836	NIPBL	OMIM:122470
HP:0003995	Abnormality of the radial head	100151683	RNU4ATAC	ORPHA:1824
HP:0003995	Abnormality of the radial head	7474	WNT5A	OMIM:180700
HP:0003995	Abnormality of the radial head	1855	DVL1	OMIM:180700
HP:0003995	Abnormality of the radial head	9241	NOG	OMIM:186500
HP:0003995	Abnormality of the radial head	1277	COL1A1	ORPHA:287
HP:0003995	Abnormality of the radial head	1289	COL5A1	ORPHA:287
HP:0003995	Abnormality of the radial head	1290	COL5A2	ORPHA:287
HP:0003995	Abnormality of the radial head	26229	B3GAT3	OMIM:245600
HP:0003995	Abnormality of the radial head	3897	L1CAM	OMIM:304100
HP:0003995	Abnormality of the radial head	171023	ASXL1	OMIM:605039
HP:0003995	Abnormality of the radial head	6913	TBX15	OMIM:260660
HP:0003995	Abnormality of the radial head	91252	SLC39A13	OMIM:612350
HP:0003995	Abnormality of the radial head	545	ATR	OMIM:210600
HP:0003995	Abnormality of the radial head	649	BMP1	OMIM:614856
HP:0003995	Abnormality of the radial head	29980	DONSON	OMIM:617604
HP:0003995	Abnormality of the radial head	5573	PRKAR1A	OMIM:101800
HP:0003995	Abnormality of the radial head	9401	RECQL4	ORPHA:221016
HP:0003995	Abnormality of the radial head	157570	ESCO2	OMIM:216100
HP:0003995	Abnormality of the radial head	64682	ANAPC1	ORPHA:221008
HP:0003995	Abnormality of the radial head	10082	GPC6	OMIM:258315
HP:0003995	Abnormality of the radial head	387733	IFITM5	OMIM:610967
HP:0003995	Abnormality of the radial head	6473	SHOX	ORPHA:314795
HP:0003997	Hypoplastic radial head	4010	LMX1B	OMIM:161200
HP:0003997	Hypoplastic radial head	25836	NIPBL	OMIM:122470
HP:0003999	Abnormality of radial epiphyses	1297	COL9A1	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	1298	COL9A2	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	1299	COL9A3	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	633	BGN	OMIM:300106
HP:0003999	Abnormality of radial epiphyses	1836	SLC26A2	ORPHA:93307
HP:0003999	Abnormality of radial epiphyses	64135	IFIH1	OMIM:182250
HP:0006400	Absent knee epiphyses	100151683	RNU4ATAC	OMIM:210710
HP:0003038	Fibular hypoplasia	139285	AMER1	OMIM:300373
HP:0003038	Fibular hypoplasia	2535	FZD2	OMIM:164745
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:200700
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:615072
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:201250
HP:0003038	Fibular hypoplasia	8200	GDF5	ORPHA:2098
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:228900
HP:0003038	Fibular hypoplasia	79659	DYNC2H1	OMIM:613091
HP:0003038	Fibular hypoplasia	153241	CEP120	OMIM:616300
HP:0003038	Fibular hypoplasia	3899	AFF3	OMIM:619297
HP:0003038	Fibular hypoplasia	10082	GPC6	OMIM:258315
HP:0003038	Fibular hypoplasia	727857	BHLHA9	ORPHA:3329
HP:0003038	Fibular hypoplasia	658	BMPR1B	ORPHA:2098
HP:0003038	Fibular hypoplasia	3636	INPPL1	ORPHA:3144
HP:0003038	Fibular hypoplasia	23169	SLC35D1	ORPHA:3144
HP:0003038	Fibular hypoplasia	6473	SHOX	OMIM:127300
HP:0003038	Fibular hypoplasia	55764	IFT122	OMIM:218330
HP:0003038	Fibular hypoplasia	10262	SF3B4	ORPHA:1788
HP:0003038	Fibular hypoplasia	64093	SMOC1	ORPHA:1106
HP:0003038	Fibular hypoplasia	64093	SMOC1	OMIM:206920
HP:0003038	Fibular hypoplasia	5745	PTH1R	ORPHA:79106
HP:0003038	Fibular hypoplasia	5745	PTH1R	OMIM:600002
HP:0003038	Fibular hypoplasia	27125	AFF4	ORPHA:444077
HP:0003038	Fibular hypoplasia	6662	SOX9	ORPHA:140
HP:0003038	Fibular hypoplasia	6662	SOX9	OMIM:114290
HP:0003038	Fibular hypoplasia	9775	EIF4A3	OMIM:268305
HP:0003038	Fibular hypoplasia	1301	COL11A1	OMIM:228520
HP:0003038	Fibular hypoplasia	27152	INTU	OMIM:617925
HP:0003038	Fibular hypoplasia	4233	MET	OMIM:607278
HP:0003038	Fibular hypoplasia	2316	FLNA	OMIM:304120
HP:0003038	Fibular hypoplasia	545	ATR	OMIM:210600
HP:0003038	Fibular hypoplasia	25839	COG4	OMIM:618150
HP:0006402	Distal shortening of limbs	10013	HDAC6	OMIM:300863
HP:0006402	Distal shortening of limbs	5745	PTH1R	ORPHA:50945
HP:0006402	Distal shortening of limbs	2737	GLI3	OMIM:146510
HP:0006466	Ankle flexion contracture	11160	ERLIN2	ORPHA:280384
HP:0006466	Ankle flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0006466	Ankle flexion contracture	25914	RTTN	ORPHA:468631
HP:0006466	Ankle flexion contracture	1859	DYRK1A	ORPHA:464311
HP:0006466	Ankle flexion contracture	64324	NSD1	ORPHA:821
HP:0006466	Ankle flexion contracture	29072	SETD2	ORPHA:821
HP:0006466	Ankle flexion contracture	10297	APC2	ORPHA:821
HP:0006466	Ankle flexion contracture	1605	DAG1	OMIM:613818
HP:0006466	Ankle flexion contracture	1605	DAG1	ORPHA:280333
HP:0006466	Ankle flexion contracture	6442	SGCA	OMIM:608099
HP:0006466	Ankle flexion contracture	6840	SVIL	OMIM:619040
HP:0006466	Ankle flexion contracture	1303	COL12A1	ORPHA:536516
HP:0006466	Ankle flexion contracture	1303	COL12A1	ORPHA:610
HP:0006466	Ankle flexion contracture	825	CAPN3	ORPHA:267
HP:0006466	Ankle flexion contracture	6134	RPL10	ORPHA:435938
HP:0006466	Ankle flexion contracture	22978	NT5C2	ORPHA:320396
HP:0006466	Ankle flexion contracture	55958	KLHL9	ORPHA:399081
HP:0006466	Ankle flexion contracture	6261	RYR1	OMIM:117000
HP:0006466	Ankle flexion contracture	83636	C19orf12	OMIM:615043
HP:0006466	Ankle flexion contracture	84876	ORAI1	OMIM:615883
HP:0006466	Ankle flexion contracture	163175	LGI4	OMIM:617468
HP:0006466	Ankle flexion contracture	6509	SLC1A4	OMIM:616657
HP:0006466	Ankle flexion contracture	60681	FKBP10	OMIM:259450
HP:0006466	Ankle flexion contracture	4773	NFATC2	OMIM:620232
HP:0006466	Ankle flexion contracture	1291	COL6A1	ORPHA:610
HP:0006466	Ankle flexion contracture	1291	COL6A1	OMIM:158810
HP:0006466	Ankle flexion contracture	1292	COL6A2	ORPHA:610
HP:0006466	Ankle flexion contracture	1292	COL6A2	OMIM:158810
HP:0006466	Ankle flexion contracture	1293	COL6A3	ORPHA:610
HP:0006466	Ankle flexion contracture	1293	COL6A3	OMIM:158810
HP:0006466	Ankle flexion contracture	87178	PNPT1	ORPHA:319514
HP:0006466	Ankle flexion contracture	26092	TOR1AIP1	OMIM:617072
HP:0006466	Ankle flexion contracture	2316	FLNA	OMIM:305620
HP:0006466	Ankle flexion contracture	8813	DPM1	OMIM:608799
HP:0006466	Ankle flexion contracture	210	ALAD	ORPHA:100924
HP:0006466	Ankle flexion contracture	513	ATP5F1D	OMIM:618120
HP:0006466	Ankle flexion contracture	7317	UBA1	ORPHA:1145
HP:0006466	Ankle flexion contracture	55681	SCYL2	ORPHA:1143
HP:0006466	Ankle flexion contracture	84570	COL25A1	ORPHA:1143
HP:0006466	Ankle flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0006466	Ankle flexion contracture	80208	SPG11	OMIM:616668
HP:0006466	Ankle flexion contracture	57731	SPTBN4	OMIM:617519
HP:0006466	Ankle flexion contracture	4313	MMP2	OMIM:259600
HP:0006466	Ankle flexion contracture	157570	ESCO2	OMIM:268300
HP:0006466	Ankle flexion contracture	29968	PSAT1	ORPHA:284417
HP:0006466	Ankle flexion contracture	57190	SELENON	ORPHA:2020
HP:0006466	Ankle flexion contracture	58	ACTA1	ORPHA:2020
HP:0006466	Ankle flexion contracture	4633	MYL2	ORPHA:2020
HP:0006466	Ankle flexion contracture	3679	ITGA7	ORPHA:2020
HP:0006466	Ankle flexion contracture	7169	TPM2	ORPHA:2020
HP:0006466	Ankle flexion contracture	9200	HACD1	ORPHA:2020
HP:0006466	Ankle flexion contracture	7170	TPM3	ORPHA:2020
HP:0006466	Ankle flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0006466	Ankle flexion contracture	51776	MAP3K20	OMIM:617760
HP:0006466	Ankle flexion contracture	5297	PI4KA	OMIM:619621
HP:0006466	Ankle flexion contracture	497661	C18orf32	OMIM:619985
HP:0006466	Ankle flexion contracture	127833	SYT2	OMIM:619461
HP:0006466	Ankle flexion contracture	4921	DDR2	OMIM:618175
HP:0006466	Ankle flexion contracture	4703	NEB	ORPHA:399103
HP:0006466	Ankle flexion contracture	7407	VARS1	OMIM:617802
HP:0006466	Ankle flexion contracture	9896	FIG4	OMIM:611228
HP:0006466	Ankle flexion contracture	203859	ANO5	ORPHA:206549
HP:0006487	Bowing of the long bones	1497	CTNS	OMIM:219800
HP:0006487	Bowing of the long bones	875	CBS	ORPHA:394
HP:0006487	Bowing of the long bones	51256	TBC1D7	OMIM:248000
HP:0006487	Bowing of the long bones	2972	BRF1	OMIM:616202
HP:0006487	Bowing of the long bones	7360	UGP2	OMIM:618744
HP:0006487	Bowing of the long bones	10992	SF3B2	OMIM:164210
HP:0006487	Bowing of the long bones	3021	H3-3B	OMIM:619721
HP:0006487	Bowing of the long bones	55790	CSGALNACT1	OMIM:618870
HP:0006487	Bowing of the long bones	84572	GNPTG	OMIM:252605
HP:0006487	Bowing of the long bones	64324	NSD1	OMIM:117550
HP:0006487	Bowing of the long bones	7040	TGFB1	OMIM:131300
HP:0006487	Bowing of the long bones	7040	TGFB1	ORPHA:1328
HP:0006487	Bowing of the long bones	54880	BCOR	ORPHA:2712
HP:0006487	Bowing of the long bones	815	CAMK2A	OMIM:617798
HP:0006487	Bowing of the long bones	10381	TUBB3	ORPHA:300570
HP:0006487	Bowing of the long bones	55699	IARS2	ORPHA:436174
HP:0006487	Bowing of the long bones	55699	IARS2	OMIM:616007
HP:0006487	Bowing of the long bones	83480	PUS3	ORPHA:488627
HP:0006487	Bowing of the long bones	157680	VPS13B	OMIM:216550
HP:0006487	Bowing of the long bones	157680	VPS13B	ORPHA:193
HP:0006487	Bowing of the long bones	5566	PRKACA	ORPHA:289
HP:0006487	Bowing of the long bones	5566	PRKACA	OMIM:619142
HP:0006487	Bowing of the long bones	5567	PRKACB	ORPHA:289
HP:0006487	Bowing of the long bones	5567	PRKACB	OMIM:619143
HP:0006487	Bowing of the long bones	2735	GLI1	ORPHA:289
HP:0006487	Bowing of the long bones	2735	GLI1	OMIM:618123
HP:0006487	Bowing of the long bones	2121	EVC	ORPHA:289
HP:0006487	Bowing of the long bones	2121	EVC	OMIM:225500
HP:0006487	Bowing of the long bones	51626	DYNC2LI1	ORPHA:289
HP:0006487	Bowing of the long bones	132884	EVC2	ORPHA:289
HP:0006487	Bowing of the long bones	132884	EVC2	OMIM:225500
HP:0006487	Bowing of the long bones	9839	ZEB2	ORPHA:261552
HP:0006487	Bowing of the long bones	9839	ZEB2	ORPHA:261537
HP:0006487	Bowing of the long bones	2720	GLB1	OMIM:253010
HP:0006487	Bowing of the long bones	3425	IDUA	OMIM:607016
HP:0006487	Bowing of the long bones	374654	KIF7	OMIM:607131
HP:0006487	Bowing of the long bones	374654	KIF7	ORPHA:166024
HP:0006487	Bowing of the long bones	5376	PMP22	ORPHA:3115
HP:0006487	Bowing of the long bones	4359	MPZ	ORPHA:3115
HP:0006487	Bowing of the long bones	1588	CYP19A1	ORPHA:91
HP:0006487	Bowing of the long bones	9653	HS2ST1	OMIM:619194
HP:0006487	Bowing of the long bones	6804	STX1A	ORPHA:904
HP:0006487	Bowing of the long bones	7461	CLIP2	ORPHA:904
HP:0006487	Bowing of the long bones	84277	DNAJC30	ORPHA:904
HP:0006487	Bowing of the long bones	8468	FKBP6	ORPHA:904
HP:0006487	Bowing of the long bones	5982	RFC2	ORPHA:904
HP:0006487	Bowing of the long bones	2969	GTF2I	ORPHA:904
HP:0006487	Bowing of the long bones	3984	LIMK1	ORPHA:904
HP:0006487	Bowing of the long bones	9569	GTF2IRD1	ORPHA:904
HP:0006487	Bowing of the long bones	155382	VPS37D	ORPHA:904
HP:0006487	Bowing of the long bones	155368	METTL27	ORPHA:904
HP:0006487	Bowing of the long bones	114049	BUD23	ORPHA:904
HP:0006487	Bowing of the long bones	7458	EIF4H	ORPHA:904
HP:0006487	Bowing of the long bones	84163	GTF2IRD2	ORPHA:904
HP:0006487	Bowing of the long bones	9275	BCL7B	ORPHA:904
HP:0006487	Bowing of the long bones	26608	TBL2	ORPHA:904
HP:0006487	Bowing of the long bones	653361	NCF1	ORPHA:904
HP:0006487	Bowing of the long bones	135886	TMEM270	ORPHA:904
HP:0006487	Bowing of the long bones	51085	MLXIPL	ORPHA:904
HP:0006487	Bowing of the long bones	9031	BAZ1B	ORPHA:904
HP:0006487	Bowing of the long bones	2006	ELN	ORPHA:904
HP:0006487	Bowing of the long bones	4952	OCRL	OMIM:309000
HP:0006487	Bowing of the long bones	4952	OCRL	ORPHA:534
HP:0006487	Bowing of the long bones	55027	HEATR3	OMIM:620072
HP:0006487	Bowing of the long bones	26137	ZBTB20	OMIM:259050
HP:0006487	Bowing of the long bones	54928	BPNT2	OMIM:614078
HP:0006487	Bowing of the long bones	7030	TFE3	OMIM:301066
HP:0006487	Bowing of the long bones	23162	MAPK8IP3	OMIM:618443
HP:0006487	Bowing of the long bones	9394	HS6ST1	OMIM:614880
HP:0006487	Bowing of the long bones	23483	TGDS	OMIM:616145
HP:0006487	Bowing of the long bones	546	ATRX	OMIM:309580
HP:0006487	Bowing of the long bones	84695	LOXL3	ORPHA:250984
HP:0006487	Bowing of the long bones	55081	IFT57	OMIM:617927
HP:0006487	Bowing of the long bones	865	CBFB	OMIM:620099
HP:0006487	Bowing of the long bones	9361	LONP1	OMIM:600373
HP:0006487	Bowing of the long bones	10466	COG5	ORPHA:263487
HP:0006487	Bowing of the long bones	26160	IFT172	OMIM:615630
HP:0006487	Bowing of the long bones	23394	ADNP	OMIM:615873
HP:0006487	Bowing of the long bones	7681	MKRN3	OMIM:176270
HP:0006487	Bowing of the long bones	3653	IPW	OMIM:176270
HP:0006487	Bowing of the long bones	54551	MAGEL2	OMIM:176270
HP:0006487	Bowing of the long bones	791114	PWRN1	OMIM:176270
HP:0006487	Bowing of the long bones	100033413	SNORD116-1	OMIM:176270
HP:0006487	Bowing of the long bones	8924	HERC2	OMIM:176270
HP:0006487	Bowing of the long bones	145624	PWAR1	OMIM:176270
HP:0006487	Bowing of the long bones	23742	NPAP1	OMIM:176270
HP:0006487	Bowing of the long bones	338433	SNORD115-1	OMIM:176270
HP:0006487	Bowing of the long bones	411	ARSB	OMIM:253200
HP:0006487	Bowing of the long bones	8882	ZPR1	OMIM:619321
HP:0006487	Bowing of the long bones	137682	NDUFAF6	OMIM:618913
HP:0006487	Bowing of the long bones	55784	MCTP2	ORPHA:1596
HP:0006487	Bowing of the long bones	64135	IFIH1	OMIM:182250
HP:0006487	Bowing of the long bones	153642	ARSK	OMIM:619698
HP:0006487	Bowing of the long bones	84068	SLC10A7	OMIM:618363
HP:0006487	Bowing of the long bones	5604	MAP2K1	ORPHA:1340
HP:0006487	Bowing of the long bones	5605	MAP2K2	ORPHA:1340
HP:0006487	Bowing of the long bones	3845	KRAS	ORPHA:1340
HP:0006487	Bowing of the long bones	673	BRAF	ORPHA:1340
HP:0006487	Bowing of the long bones	23111	SPART	ORPHA:101000
HP:0006487	Bowing of the long bones	9451	EIF2AK3	OMIM:226980
HP:0006487	Bowing of the long bones	54681	P4HTM	OMIM:618493
HP:0006487	Bowing of the long bones	860	RUNX2	ORPHA:1452
HP:0006487	Bowing of the long bones	1954	MEGF8	ORPHA:65759
HP:0006487	Bowing of the long bones	6424	SFRP4	OMIM:265900
HP:0006487	Bowing of the long bones	10526	IPO8	OMIM:619472
HP:0006487	Bowing of the long bones	6711	SPTBN1	OMIM:619475
HP:0006487	Bowing of the long bones	2588	GALNS	OMIM:253000
HP:0006487	Bowing of the long bones	80152	CENPT	OMIM:618702
HP:0006487	Bowing of the long bones	5184	PEPD	ORPHA:742
HP:0006487	Bowing of the long bones	7227	TRPS1	ORPHA:502
HP:0006487	Bowing of the long bones	374879	ZNF699	OMIM:619488
HP:0006487	Bowing of the long bones	10651	MTX2	OMIM:619127
HP:0006487	Bowing of the long bones	2990	GUSB	OMIM:253220
HP:0006487	Bowing of the long bones	8139	GAN	ORPHA:643
HP:0006487	Bowing of the long bones	26229	B3GAT3	OMIM:245600
HP:0006487	Bowing of the long bones	83452	RAB33B	OMIM:615222
HP:0006487	Bowing of the long bones	1311	COMP	ORPHA:750
HP:0006487	Bowing of the long bones	1311	COMP	OMIM:177170
HP:0006487	Bowing of the long bones	1311	COMP	ORPHA:93308
HP:0006487	Bowing of the long bones	1576	CYP3A4	OMIM:619073
HP:0006487	Bowing of the long bones	3835	KIF22	ORPHA:93360
HP:0006487	Bowing of the long bones	65992	DDRGK1	OMIM:602557
HP:0006487	Bowing of the long bones	65992	DDRGK1	ORPHA:93352
HP:0006487	Bowing of the long bones	579	NKX3-2	OMIM:613330
HP:0006487	Bowing of the long bones	8838	CCN6	OMIM:208230
HP:0006487	Bowing of the long bones	8838	CCN6	ORPHA:1159
HP:0006487	Bowing of the long bones	55325	UFSP2	OMIM:617974
HP:0006487	Bowing of the long bones	9401	RECQL4	ORPHA:221016
HP:0006487	Bowing of the long bones	11128	POLR3A	OMIM:264090
HP:0006487	Bowing of the long bones	59341	TRPV4	ORPHA:93314
HP:0006487	Bowing of the long bones	4796	TONSL	OMIM:271510
HP:0006487	Bowing of the long bones	1298	COL9A2	OMIM:600204
HP:0006487	Bowing of the long bones	1298	COL9A2	ORPHA:166002
HP:0006487	Bowing of the long bones	58	ACTA1	ORPHA:171436
HP:0006487	Bowing of the long bones	7169	TPM2	ORPHA:171436
HP:0006487	Bowing of the long bones	4703	NEB	ORPHA:171436
HP:0006487	Bowing of the long bones	10324	KLHL41	ORPHA:171436
HP:0006487	Bowing of the long bones	56203	LMOD3	ORPHA:171436
HP:0006487	Bowing of the long bones	1073	CFL2	ORPHA:171436
HP:0006487	Bowing of the long bones	9321	TRIP11	OMIM:184260
HP:0006487	Bowing of the long bones	51715	RAB23	OMIM:201000
HP:0006487	Bowing of the long bones	176	ACAN	OMIM:608361
HP:0006487	Bowing of the long bones	79631	EFL1	OMIM:617941
HP:0006487	Bowing of the long bones	124583	CANT1	OMIM:251450
HP:0006487	Bowing of the long bones	124583	CANT1	OMIM:617719
HP:0006487	Bowing of the long bones	1297	COL9A1	ORPHA:166002
HP:0006487	Bowing of the long bones	1299	COL9A3	ORPHA:166002
HP:0006487	Bowing of the long bones	3417	IDH1	ORPHA:99646
HP:0006487	Bowing of the long bones	284403	WDR62	OMIM:604317
HP:0006487	Bowing of the long bones	4318	MMP9	OMIM:613073
HP:0006487	Bowing of the long bones	3549	IHH	ORPHA:63446
HP:0006487	Bowing of the long bones	3549	IHH	OMIM:607778
HP:0006487	Bowing of the long bones	4998	ORC1	OMIM:224690
HP:0006487	Bowing of the long bones	4052	LTBP1	OMIM:619451
HP:0006487	Bowing of the long bones	7994	KAT6A	OMIM:616268
HP:0006487	Bowing of the long bones	6137	RPL13	OMIM:618728
HP:0006487	Bowing of the long bones	64131	XYLT1	OMIM:615777
HP:0006487	Bowing of the long bones	3248	HPGD	ORPHA:2796
HP:0006487	Bowing of the long bones	6578	SLCO2A1	ORPHA:2796
HP:0006487	Bowing of the long bones	26123	TCTN3	ORPHA:2753
HP:0006487	Bowing of the long bones	633	BGN	OMIM:300106
HP:0006487	Bowing of the long bones	5442	POLRMT	OMIM:619743
HP:0006487	Bowing of the long bones	23594	ORC6	OMIM:613803
HP:0006487	Bowing of the long bones	64682	ANAPC1	ORPHA:221008
HP:0006487	Bowing of the long bones	4921	DDR2	OMIM:271665
HP:0006487	Bowing of the long bones	8074	FGF23	ORPHA:89937
HP:0006487	Bowing of the long bones	9060	PAPSS2	OMIM:612847
HP:0006487	Bowing of the long bones	51360	MBTPS2	OMIM:301014
HP:0006487	Bowing of the long bones	249	ALPL	OMIM:241500
HP:0006487	Bowing of the long bones	249	ALPL	OMIM:241510
HP:0006487	Bowing of the long bones	8318	CDC45	OMIM:617063
HP:0006487	Bowing of the long bones	1962	EHHADH	OMIM:615605
HP:0006487	Bowing of the long bones	6569	SLC34A1	ORPHA:157215
HP:0006487	Bowing of the long bones	11014	KDELR2	OMIM:619131
HP:0006487	Bowing of the long bones	10491	CRTAP	OMIM:610682
HP:0006487	Bowing of the long bones	372	ARCN1	OMIM:617164
HP:0006487	Bowing of the long bones	4507	MTAP	OMIM:112250
HP:0006487	Bowing of the long bones	4763	NF1	ORPHA:97685
HP:0006487	Bowing of the long bones	54	ACP5	ORPHA:1855
HP:0006487	Bowing of the long bones	121340	SP7	OMIM:613849
HP:0006487	Bowing of the long bones	79659	DYNC2H1	OMIM:613091
HP:0006487	Bowing of the long bones	1300	COL10A1	OMIM:156500
HP:0006487	Bowing of the long bones	1300	COL10A1	ORPHA:174
HP:0006487	Bowing of the long bones	5447	POR	OMIM:201750
HP:0006487	Bowing of the long bones	5447	POR	ORPHA:95699
HP:0006487	Bowing of the long bones	5447	POR	OMIM:207410
HP:0006487	Bowing of the long bones	55503	TRPV6	OMIM:618188
HP:0006487	Bowing of the long bones	5593	PRKG2	OMIM:619638
HP:0006487	Bowing of the long bones	100151683	RNU4ATAC	OMIM:210710
HP:0006487	Bowing of the long bones	89970	RSPRY1	OMIM:616723
HP:0006487	Bowing of the long bones	5352	PLOD2	OMIM:609220
HP:0006487	Bowing of the long bones	4148	MATN3	OMIM:608728
HP:0006487	Bowing of the long bones	91754	NEK9	OMIM:617022
HP:0006487	Bowing of the long bones	91179	SCARF2	OMIM:600920
HP:0006487	Bowing of the long bones	2263	FGFR2	OMIM:207410
HP:0006487	Bowing of the long bones	3911	LAMA5	OMIM:620076
HP:0006487	Bowing of the long bones	1301	COL11A1	ORPHA:440354
HP:0006487	Bowing of the long bones	7476	WNT7A	OMIM:228930
HP:0006487	Bowing of the long bones	7476	WNT7A	OMIM:276820
HP:0006487	Bowing of the long bones	4125	MAN2B1	OMIM:248500
HP:0006487	Bowing of the long bones	25885	POLR1A	OMIM:616462
HP:0006487	Bowing of the long bones	55603	TENT5A	OMIM:617952
HP:0006487	Bowing of the long bones	727857	BHLHA9	ORPHA:3329
HP:0006487	Bowing of the long bones	284086	NEK8	OMIM:615415
HP:0006487	Bowing of the long bones	9939	RBM8A	OMIM:274000
HP:0006487	Bowing of the long bones	166929	SGMS2	OMIM:126550
HP:0006487	Bowing of the long bones	55151	TMEM38B	OMIM:615066
HP:0006487	Bowing of the long bones	25871	NEPRO	OMIM:618853
HP:0006487	Bowing of the long bones	8792	TNFRSF11A	OMIM:602080
HP:0006487	Bowing of the long bones	649	BMP1	OMIM:614856
HP:0006487	Bowing of the long bones	3930	LBR	OMIM:618019
HP:0006487	Bowing of the long bones	55112	DYNC2I1	OMIM:615503
HP:0006487	Bowing of the long bones	4322	MMP13	OMIM:602111
HP:0006487	Bowing of the long bones	4322	MMP13	ORPHA:93356
HP:0006487	Bowing of the long bones	2261	FGFR3	OMIM:616482
HP:0006487	Bowing of the long bones	2261	FGFR3	ORPHA:85165
HP:0006487	Bowing of the long bones	65250	CPLANE1	OMIM:277170
HP:0006487	Bowing of the long bones	1184	CLCN5	OMIM:300554
HP:0006487	Bowing of the long bones	1184	CLCN5	OMIM:300009
HP:0006487	Bowing of the long bones	142680	SLC34A3	OMIM:241530
HP:0006487	Bowing of the long bones	9158	FIBP	ORPHA:500095
HP:0006487	Bowing of the long bones	1594	CYP27B1	ORPHA:289157
HP:0006487	Bowing of the long bones	1594	CYP27B1	OMIM:264700
HP:0006487	Bowing of the long bones	120227	CYP2R1	ORPHA:289157
HP:0006487	Bowing of the long bones	120227	CYP2R1	OMIM:600081
HP:0006487	Bowing of the long bones	2335	FN1	ORPHA:93315
HP:0006487	Bowing of the long bones	1280	COL2A1	ORPHA:93315
HP:0006487	Bowing of the long bones	1280	COL2A1	OMIM:156550
HP:0006487	Bowing of the long bones	23314	SATB2	ORPHA:251028
HP:0006487	Bowing of the long bones	1277	COL1A1	OMIM:259420
HP:0006487	Bowing of the long bones	1277	COL1A1	OMIM:114000
HP:0006487	Bowing of the long bones	1277	COL1A1	OMIM:166210
HP:0006487	Bowing of the long bones	1278	COL1A2	OMIM:259420
HP:0006487	Bowing of the long bones	1278	COL1A2	OMIM:166210
HP:0006487	Bowing of the long bones	6473	SHOX	OMIM:127300
HP:0006487	Bowing of the long bones	6473	SHOX	ORPHA:314795
HP:0006487	Bowing of the long bones	6473	SHOX	ORPHA:240
HP:0006487	Bowing of the long bones	6662	SOX9	ORPHA:140
HP:0006487	Bowing of the long bones	6662	SOX9	OMIM:114290
HP:0006487	Bowing of the long bones	5159	PDGFRB	OMIM:601812
HP:0006487	Bowing of the long bones	22858	CILK1	OMIM:612651
HP:0006487	Bowing of the long bones	64093	SMOC1	OMIM:206920
HP:0006487	Bowing of the long bones	64093	SMOC1	ORPHA:1106
HP:0006487	Bowing of the long bones	4041	LRP5	OMIM:259770
HP:0006487	Bowing of the long bones	388015	RTL1	ORPHA:96334
HP:0006487	Bowing of the long bones	8788	DLK1	ORPHA:96334
HP:0006487	Bowing of the long bones	55384	MEG3	ORPHA:96334
HP:0006487	Bowing of the long bones	2316	FLNA	OMIM:304120
HP:0006487	Bowing of the long bones	2316	FLNA	OMIM:309350
HP:0006487	Bowing of the long bones	64175	P3H1	OMIM:610915
HP:0006487	Bowing of the long bones	54808	DYM	OMIM:223800
HP:0006487	Bowing of the long bones	5251	PHEX	OMIM:307800
HP:0006487	Bowing of the long bones	6023	RMRP	ORPHA:175
HP:0006487	Bowing of the long bones	1758	DMP1	ORPHA:289176
HP:0006487	Bowing of the long bones	5167	ENPP1	ORPHA:289176
HP:0006487	Bowing of the long bones	8218	CLTCL1	ORPHA:453510
HP:0006487	Bowing of the long bones	9469	CHST3	OMIM:143095
HP:0006487	Bowing of the long bones	92344	GORAB	OMIM:231070
HP:0006487	Bowing of the long bones	2317	FLNB	OMIM:108721
HP:0006487	Bowing of the long bones	2317	FLNB	OMIM:108720
HP:0006487	Bowing of the long bones	1302	COL11A2	ORPHA:1427
HP:0006487	Bowing of the long bones	3977	LIFR	OMIM:601559
HP:0006487	Bowing of the long bones	7421	VDR	OMIM:277440
HP:0006487	Bowing of the long bones	5116	PCNT	OMIM:210720
HP:0006487	Bowing of the long bones	5130	PCYT1A	OMIM:608940
HP:0006487	Bowing of the long bones	26040	SETBP1	OMIM:269150
HP:0006487	Bowing of the long bones	26040	SETBP1	ORPHA:798
HP:0006487	Bowing of the long bones	871	SERPINH1	OMIM:613848
HP:0006487	Bowing of the long bones	2737	GLI3	ORPHA:672
HP:0006487	Bowing of the long bones	4920	ROR2	OMIM:268310
HP:0006487	Bowing of the long bones	567	B2M	OMIM:241600
HP:0006487	Bowing of the long bones	57020	VPS35L	OMIM:619135
HP:0006487	Bowing of the long bones	54101	RIPK4	OMIM:263650
HP:0006487	Bowing of the long bones	112752	IFT43	OMIM:617866
HP:0006487	Bowing of the long bones	1836	SLC26A2	ORPHA:93307
HP:0006487	Bowing of the long bones	3207	HOXA11	OMIM:605432
HP:0006487	Bowing of the long bones	6678	SPARC	OMIM:616507
HP:0006487	Bowing of the long bones	9851	KIAA0753	OMIM:619479
HP:0006487	Bowing of the long bones	340419	RSPO2	OMIM:618022
HP:0006487	Bowing of the long bones	4982	TNFRSF11B	OMIM:239000
HP:0006487	Bowing of the long bones	8200	GDF5	OMIM:201250
HP:0006487	Bowing of the long bones	6885	MAP3K7	ORPHA:1826
HP:0006487	Bowing of the long bones	3339	HSPG2	OMIM:255800
HP:0006487	Bowing of the long bones	79879	CCDC134	OMIM:619795
HP:0006487	Bowing of the long bones	9871	SEC24D	ORPHA:2050
HP:0006487	Bowing of the long bones	5034	P4HB	ORPHA:2050
HP:0006487	Bowing of the long bones	6916	TBXAS1	ORPHA:1802
HP:0006487	Bowing of the long bones	10312	TCIRG1	ORPHA:667
HP:0006487	Bowing of the long bones	1186	CLCN7	ORPHA:667
HP:0006487	Bowing of the long bones	29887	SNX10	ORPHA:667
HP:0006487	Bowing of the long bones	8600	TNFSF11	ORPHA:667
HP:0006487	Bowing of the long bones	5781	PTPN11	OMIM:156250
HP:0006487	Bowing of the long bones	613	BCR	ORPHA:261330
HP:0006487	Bowing of the long bones	1399	CRKL	ORPHA:261330
HP:0006487	Bowing of the long bones	5594	MAPK1	ORPHA:261330
HP:0006487	Bowing of the long bones	23322	RPGRIP1L	OMIM:611561
HP:0006487	Bowing of the long bones	23322	RPGRIP1L	ORPHA:564
HP:0006487	Bowing of the long bones	126792	B3GALT6	ORPHA:2725
HP:0006487	Bowing of the long bones	126792	B3GALT6	ORPHA:536467
HP:0006487	Bowing of the long bones	126792	B3GALT6	OMIM:615349
HP:0006487	Bowing of the long bones	2201	FBN2	OMIM:121050
HP:0006487	Bowing of the long bones	51259	TMEM216	OMIM:603194
HP:0006487	Bowing of the long bones	51259	TMEM216	ORPHA:564
HP:0006487	Bowing of the long bones	56975	FAM20C	OMIM:259775
HP:0006487	Bowing of the long bones	5831	PYCR1	OMIM:612940
HP:0006487	Bowing of the long bones	90993	CREB3L1	OMIM:616229
HP:0006487	Bowing of the long bones	2131	EXT1	ORPHA:321
HP:0006487	Bowing of the long bones	2132	EXT2	ORPHA:321
HP:0006487	Bowing of the long bones	538	ATP7A	ORPHA:565
HP:0006487	Bowing of the long bones	84314	TMEM107	ORPHA:564
HP:0006487	Bowing of the long bones	79867	TCTN2	ORPHA:564
HP:0006487	Bowing of the long bones	80776	B9D2	ORPHA:564
HP:0006487	Bowing of the long bones	79600	TCTN1	ORPHA:564
HP:0006487	Bowing of the long bones	57096	RPGRIP1	ORPHA:564
HP:0006487	Bowing of the long bones	79848	CSPP1	ORPHA:564
HP:0006487	Bowing of the long bones	80184	CEP290	ORPHA:564
HP:0006487	Bowing of the long bones	80184	CEP290	OMIM:611134
HP:0006487	Bowing of the long bones	57545	CC2D2A	ORPHA:564
HP:0006487	Bowing of the long bones	79583	TMEM231	ORPHA:564
HP:0006487	Bowing of the long bones	91147	TMEM67	ORPHA:564
HP:0006487	Bowing of the long bones	79770	TXNDC15	ORPHA:564
HP:0006487	Bowing of the long bones	79770	TXNDC15	OMIM:619879
HP:0006487	Bowing of the long bones	27077	B9D1	ORPHA:564
HP:0006487	Bowing of the long bones	54903	MKS1	ORPHA:564
HP:0006487	Bowing of the long bones	54903	MKS1	OMIM:249000
HP:0006487	Bowing of the long bones	65062	TMEM237	ORPHA:564
HP:0006487	Bowing of the long bones	4784	NFIX	ORPHA:561
HP:0006487	Bowing of the long bones	5745	PTH1R	ORPHA:50945
HP:0006487	Bowing of the long bones	5745	PTH1R	OMIM:156400
HP:0006487	Bowing of the long bones	11285	B4GALT7	OMIM:130070
HP:0006487	Bowing of the long bones	3572	IL6ST	OMIM:619751
HP:0006487	Bowing of the long bones	3043	HBB	ORPHA:231214
HP:0006487	Bowing of the long bones	3043	HBB	ORPHA:231226
HP:0006487	Bowing of the long bones	658	BMPR1B	ORPHA:2098
HP:0006487	Bowing of the long bones	60681	FKBP10	ORPHA:2771
HP:0006487	Bowing of the long bones	157570	ESCO2	ORPHA:3103
HP:0006487	Bowing of the long bones	285590	SH3PXD2B	OMIM:249420
HP:0006487	Bowing of the long bones	6514	SLC2A2	ORPHA:2088
HP:0006487	Bowing of the long bones	2260	FGFR1	OMIM:166250
HP:0006487	Bowing of the long bones	4882	NPR2	ORPHA:40
HP:0006487	Bowing of the long bones	203859	ANO5	ORPHA:53697
HP:0006487	Bowing of the long bones	203859	ANO5	OMIM:166260
HP:0006487	Bowing of the long bones	57539	WDR35	OMIM:614091
HP:0006487	Bowing of the long bones	80169	CTC1	OMIM:612199
HP:0006487	Bowing of the long bones	2200	FBN1	ORPHA:2462
HP:0006487	Bowing of the long bones	6497	SKI	ORPHA:2462
HP:0006487	Bowing of the long bones	57003	CCDC47	OMIM:618268
HP:0006487	Bowing of the long bones	4853	NOTCH2	OMIM:102500
HP:0006406	Club-shaped proximal femur	1280	COL2A1	OMIM:184250
HP:0006406	Club-shaped proximal femur	2317	FLNB	OMIM:108720
HP:0006407	Irregular distal femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0006407	Irregular distal femoral epiphysis	1301	COL11A1	OMIM:154780
HP:0006408	Distal tapering femur	2317	FLNB	ORPHA:56305
HP:0006408	Distal tapering femur	2317	FLNB	OMIM:108720
HP:0006409	Progressive leg bowing	4322	MMP13	OMIM:250400
HP:0006409	Progressive leg bowing	4322	MMP13	ORPHA:2501
HP:0003042	Elbow dislocation	23476	BRD4	ORPHA:199
HP:0003042	Elbow dislocation	9126	SMC3	ORPHA:199
HP:0003042	Elbow dislocation	8243	SMC1A	ORPHA:199
HP:0003042	Elbow dislocation	25836	NIPBL	ORPHA:199
HP:0003042	Elbow dislocation	55869	HDAC8	ORPHA:199
HP:0003042	Elbow dislocation	5885	RAD21	ORPHA:199
HP:0003042	Elbow dislocation	1857	DVL3	ORPHA:3107
HP:0003042	Elbow dislocation	7474	WNT5A	ORPHA:3107
HP:0003042	Elbow dislocation	1855	DVL1	ORPHA:3107
HP:0003042	Elbow dislocation	2535	FZD2	ORPHA:3107
HP:0003042	Elbow dislocation	2535	FZD2	ORPHA:93328
HP:0003042	Elbow dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0003042	Elbow dislocation	100151683	RNU4ATAC	ORPHA:1824
HP:0003042	Elbow dislocation	347734	SLC35B2	OMIM:620269
HP:0003042	Elbow dislocation	1836	SLC26A2	ORPHA:628
HP:0003042	Elbow dislocation	1836	SLC26A2	ORPHA:56304
HP:0003042	Elbow dislocation	2317	FLNB	ORPHA:56305
HP:0003042	Elbow dislocation	2317	FLNB	OMIM:108721
HP:0003042	Elbow dislocation	2317	FLNB	OMIM:108720
HP:0003042	Elbow dislocation	2317	FLNB	OMIM:150250
HP:0003042	Elbow dislocation	9241	NOG	ORPHA:3250
HP:0003042	Elbow dislocation	8200	GDF5	ORPHA:3250
HP:0003042	Elbow dislocation	8200	GDF5	OMIM:201250
HP:0003042	Elbow dislocation	8200	GDF5	ORPHA:968
HP:0003042	Elbow dislocation	9555	MACROH2A1	ORPHA:1275
HP:0003042	Elbow dislocation	5307	PITX1	ORPHA:1275
HP:0003042	Elbow dislocation	4038	LRP4	ORPHA:3258
HP:0003042	Elbow dislocation	324	APC	ORPHA:3258
HP:0003042	Elbow dislocation	3187	HNRNPH1	OMIM:620083
HP:0003042	Elbow dislocation	4998	ORC1	OMIM:224690
HP:0003042	Elbow dislocation	4998	ORC1	ORPHA:2554
HP:0003042	Elbow dislocation	9469	CHST3	OMIM:143095
HP:0003042	Elbow dislocation	64359	NXN	ORPHA:1507
HP:0003042	Elbow dislocation	4920	ROR2	ORPHA:1507
HP:0003042	Elbow dislocation	81620	CDT1	ORPHA:2554
HP:0003042	Elbow dislocation	5000	ORC4	ORPHA:2554
HP:0003042	Elbow dislocation	23594	ORC6	ORPHA:2554
HP:0003042	Elbow dislocation	8318	CDC45	ORPHA:2554
HP:0003042	Elbow dislocation	990	CDC6	ORPHA:2554
HP:0003042	Elbow dislocation	990	CDC6	OMIM:613805
HP:0003042	Elbow dislocation	51053	GMNN	ORPHA:2554
HP:0003042	Elbow dislocation	64131	XYLT1	ORPHA:1425
HP:0003042	Elbow dislocation	124583	CANT1	ORPHA:1425
HP:0003042	Elbow dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0003042	Elbow dislocation	3339	HSPG2	ORPHA:800
HP:0003042	Elbow dislocation	64093	SMOC1	ORPHA:1106
HP:0003042	Elbow dislocation	6473	SHOX	ORPHA:240
HP:0003042	Elbow dislocation	10082	GPC6	ORPHA:93329
HP:0003042	Elbow dislocation	2200	FBN1	ORPHA:2462
HP:0003042	Elbow dislocation	6497	SKI	ORPHA:2462
HP:0003042	Elbow dislocation	165	AEBP1	ORPHA:536532
HP:0003042	Elbow dislocation	2316	FLNA	ORPHA:90650
HP:0003042	Elbow dislocation	2316	FLNA	ORPHA:90652
HP:0003042	Elbow dislocation	11285	B4GALT7	OMIM:130070
HP:0003042	Elbow dislocation	1182	CLCN3	OMIM:619512
HP:0003042	Elbow dislocation	85301	COL27A1	OMIM:615155
HP:0003042	Elbow dislocation	1387	CREBBP	OMIM:180849
HP:0003042	Elbow dislocation	2033	EP300	OMIM:180849
HP:0003042	Elbow dislocation	23233	EXOC6B	ORPHA:93359
HP:0003042	Elbow dislocation	23233	EXOC6B	OMIM:618395
HP:0003042	Elbow dislocation	126792	B3GALT6	ORPHA:93359
HP:0003042	Elbow dislocation	126792	B3GALT6	OMIM:271640
HP:0003042	Elbow dislocation	4010	LMX1B	ORPHA:2614
HP:0003042	Elbow dislocation	6885	MAP3K7	OMIM:617137
HP:0003042	Elbow dislocation	6885	MAP3K7	ORPHA:1826
HP:0003042	Elbow dislocation	145258	GSC	OMIM:602471
HP:0003042	Elbow dislocation	10847	SRCAP	OMIM:136140
HP:0003042	Elbow dislocation	10847	SRCAP	ORPHA:2044
HP:0003042	Elbow dislocation	91179	SCARF2	OMIM:600920
HP:0003042	Elbow dislocation	2137	EXTL3	OMIM:617425
HP:0003042	Elbow dislocation	6662	SOX9	OMIM:114290
HP:0003042	Elbow dislocation	10225	CD96	OMIM:211750
HP:0003042	Elbow dislocation	10225	CD96	ORPHA:1308
HP:0003042	Elbow dislocation	2067	ERCC1	OMIM:610758
HP:0003042	Elbow dislocation	1146	CHRNG	OMIM:265000
HP:0003042	Elbow dislocation	3835	KIF22	OMIM:603546
HP:0003042	Elbow dislocation	57492	ARID1B	OMIM:135900
HP:0003042	Elbow dislocation	3899	AFF3	OMIM:619297
HP:0003042	Elbow dislocation	4853	NOTCH2	OMIM:102500
HP:0003042	Elbow dislocation	1277	COL1A1	ORPHA:287
HP:0003042	Elbow dislocation	1289	COL5A1	ORPHA:287
HP:0003042	Elbow dislocation	1290	COL5A2	ORPHA:287
HP:0003042	Elbow dislocation	3897	L1CAM	OMIM:304100
HP:0003042	Elbow dislocation	171023	ASXL1	OMIM:605039
HP:0003042	Elbow dislocation	6913	TBX15	OMIM:260660
HP:0003042	Elbow dislocation	91252	SLC39A13	OMIM:612350
HP:0003042	Elbow dislocation	545	ATR	OMIM:210600
HP:0003042	Elbow dislocation	649	BMP1	OMIM:614856
HP:0003042	Elbow dislocation	29980	DONSON	OMIM:617604
HP:0003042	Elbow dislocation	5573	PRKAR1A	OMIM:101800
HP:0003042	Elbow dislocation	26229	B3GAT3	OMIM:245600
HP:0003042	Elbow dislocation	9935	MAFB	OMIM:166300
HP:0003042	Elbow dislocation	387733	IFITM5	OMIM:610967
HP:0006499	Abnormal femoral epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0006499	Abnormal femoral epiphysis morphology	9742	IFT140	OMIM:266920
HP:0006499	Abnormal femoral epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0006499	Abnormal femoral epiphysis morphology	2720	GLB1	OMIM:253010
HP:0006499	Abnormal femoral epiphysis morphology	9469	CHST3	OMIM:143095
HP:0006499	Abnormal femoral epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0006499	Abnormal femoral epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0006499	Abnormal femoral epiphysis morphology	50485	SMARCAL1	OMIM:242900
HP:0006499	Abnormal femoral epiphysis morphology	124583	CANT1	OMIM:617719
HP:0006499	Abnormal femoral epiphysis morphology	9382	COG1	OMIM:611209
HP:0006499	Abnormal femoral epiphysis morphology	990	CDC6	OMIM:613805
HP:0006499	Abnormal femoral epiphysis morphology	54808	DYM	ORPHA:239
HP:0006499	Abnormal femoral epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0006499	Abnormal femoral epiphysis morphology	3835	KIF22	ORPHA:93360
HP:0006499	Abnormal femoral epiphysis morphology	3835	KIF22	OMIM:603546
HP:0006499	Abnormal femoral epiphysis morphology	1836	SLC26A2	OMIM:226900
HP:0006499	Abnormal femoral epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0006499	Abnormal femoral epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0006499	Abnormal femoral epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0006499	Abnormal femoral epiphysis morphology	8838	CCN6	ORPHA:1159
HP:0006499	Abnormal femoral epiphysis morphology	176	ACAN	OMIM:608361
HP:0006499	Abnormal femoral epiphysis morphology	9496	TBX4	OMIM:147891
HP:0006499	Abnormal femoral epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0006499	Abnormal femoral epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0006499	Abnormal femoral epiphysis morphology	5830	PEX5	OMIM:616716
HP:0006499	Abnormal femoral epiphysis morphology	538	ATP7A	ORPHA:198
HP:0006499	Abnormal femoral epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0006499	Abnormal femoral epiphysis morphology	26277	TINF2	OMIM:613990
HP:0006499	Abnormal femoral epiphysis morphology	91754	NEK9	OMIM:614262
HP:0006499	Abnormal femoral epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0006499	Abnormal femoral epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0006499	Abnormal femoral epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0006499	Abnormal femoral epiphysis morphology	2335	FN1	ORPHA:93315
HP:0006499	Abnormal femoral epiphysis morphology	1280	COL2A1	ORPHA:93315
HP:0006499	Abnormal femoral epiphysis morphology	1280	COL2A1	OMIM:608805
HP:0006499	Abnormal femoral epiphysis morphology	1280	COL2A1	OMIM:150600
HP:0006499	Abnormal femoral epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0006499	Abnormal femoral epiphysis morphology	9719	ADAMTSL2	ORPHA:1901
HP:0006499	Abnormal femoral epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0006499	Abnormal femoral epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0006499	Abnormal femoral epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0006499	Abnormal femoral epiphysis morphology	2131	EXT1	ORPHA:502
HP:0006499	Abnormal femoral epiphysis morphology	7227	TRPS1	ORPHA:502
HP:0006499	Abnormal femoral epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0006499	Abnormal femoral epiphysis morphology	7227	TRPS1	OMIM:190351
HP:0006499	Abnormal femoral epiphysis morphology	7227	TRPS1	ORPHA:77258
HP:0006499	Abnormal femoral epiphysis morphology	55325	UFSP2	OMIM:142669
HP:0006499	Abnormal femoral epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0006499	Abnormal femoral epiphysis morphology	59341	TRPV4	OMIM:617383
HP:0006499	Abnormal femoral epiphysis morphology	1311	COMP	OMIM:132400
HP:0006499	Abnormal femoral epiphysis morphology	1311	COMP	ORPHA:93308
HP:0006499	Abnormal femoral epiphysis morphology	2033	EP300	ORPHA:353284
HP:0006499	Abnormal femoral epiphysis morphology	10847	SRCAP	ORPHA:2044
HP:0006499	Abnormal femoral epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0006499	Abnormal femoral epiphysis morphology	64374	SIL1	ORPHA:559
HP:0006499	Abnormal femoral epiphysis morphology	51763	INPP5K	ORPHA:559
HP:0006499	Abnormal femoral epiphysis morphology	1278	COL1A2	ORPHA:1899
HP:0006499	Abnormal femoral epiphysis morphology	1277	COL1A1	ORPHA:1899
HP:0006499	Abnormal femoral epiphysis morphology	6137	RPL13	OMIM:618728
HP:0006499	Abnormal femoral epiphysis morphology	1297	COL9A1	OMIM:614135
HP:0006499	Abnormal femoral epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0006499	Abnormal femoral epiphysis morphology	3549	IHH	OMIM:607778
HP:0006499	Abnormal femoral epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0006499	Abnormal femoral epiphysis morphology	89970	RSPRY1	OMIM:616723
HP:0006499	Abnormal femoral epiphysis morphology	5979	RET	OMIM:162300
HP:0006499	Abnormal femoral epiphysis morphology	2972	BRF1	OMIM:616202
HP:0006499	Abnormal femoral epiphysis morphology	5116	PCNT	OMIM:210720
HP:0006499	Abnormal femoral epiphysis morphology	51119	SBDS	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	51119	SBDS	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	6729	SRP54	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	6729	SRP54	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	79631	EFL1	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	3339	HSPG2	OMIM:255800
HP:0006499	Abnormal femoral epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0006499	Abnormal femoral epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006499	Abnormal femoral epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006499	Abnormal femoral epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	7038	TG	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	7173	TPO	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	389434	IYD	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0006499	Abnormal femoral epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0006499	Abnormal femoral epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0006499	Abnormal femoral epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0006499	Abnormal femoral epiphysis morphology	60561	RINT1	OMIM:618641
HP:0006414	Distal tibial bowing	1300	COL10A1	OMIM:156500
HP:0006415	Cortically dense long tubular bones	50964	SOST	OMIM:269500
HP:0001528	Hemihypertrophy	5290	PIK3CA	OMIM:612918
HP:0001528	Hemihypertrophy	5290	PIK3CA	OMIM:613089
HP:0001528	Hemihypertrophy	374879	ZNF699	OMIM:619488
HP:0001528	Hemihypertrophy	54941	RNF125	OMIM:616260
HP:0001528	Hemihypertrophy	1028	CDKN1C	OMIM:130650
HP:0001528	Hemihypertrophy	10984	KCNQ1OT1	OMIM:130650
HP:0001528	Hemihypertrophy	10984	KCNQ1OT1	ORPHA:2128
HP:0001528	Hemihypertrophy	3481	IGF2	OMIM:130650
HP:0001528	Hemihypertrophy	3481	IGF2	ORPHA:2128
HP:0001528	Hemihypertrophy	3784	KCNQ1	OMIM:130650
HP:0001528	Hemihypertrophy	207	AKT1	OMIM:176920
HP:0001528	Hemihypertrophy	1788	DNMT3A	OMIM:615879
HP:0001528	Hemihypertrophy	208	AKT2	OMIM:240900
HP:0001528	Hemihypertrophy	208	AKT2	ORPHA:293964
HP:0001528	Hemihypertrophy	6928	HNF1B	ORPHA:1309
HP:0001528	Hemihypertrophy	3845	KRAS	OMIM:163200
HP:0001528	Hemihypertrophy	4893	NRAS	OMIM:163200
HP:0001528	Hemihypertrophy	3265	HRAS	OMIM:163200
HP:0001528	Hemihypertrophy	3265	HRAS	ORPHA:2874
HP:0001528	Hemihypertrophy	283120	H19	ORPHA:2128
HP:0001528	Hemihypertrophy	5921	RASA1	ORPHA:90307
HP:0006417	Broad femoral metaphyses	2261	FGFR3	OMIM:610474
HP:0006417	Broad femoral metaphyses	55325	UFSP2	OMIM:142669
HP:0002984	Hypoplasia of the radius	57167	SALL4	ORPHA:233
HP:0002984	Hypoplasia of the radius	57167	SALL4	OMIM:147750
HP:0002984	Hypoplasia of the radius	57167	SALL4	OMIM:607323
HP:0002984	Hypoplasia of the radius	57167	SALL4	ORPHA:2307
HP:0002984	Hypoplasia of the radius	9935	MAFB	ORPHA:233
HP:0002984	Hypoplasia of the radius	1123	CHN1	ORPHA:233
HP:0002984	Hypoplasia of the radius	5573	PRKAR1A	ORPHA:950
HP:0002984	Hypoplasia of the radius	5144	PDE4D	ORPHA:950
HP:0002984	Hypoplasia of the radius	8200	GDF5	OMIM:200700
HP:0002984	Hypoplasia of the radius	8200	GDF5	OMIM:201250
HP:0002984	Hypoplasia of the radius	4882	NPR2	OMIM:602875
HP:0002984	Hypoplasia of the radius	10262	SF3B4	OMIM:154400
HP:0002984	Hypoplasia of the radius	10262	SF3B4	ORPHA:245
HP:0002984	Hypoplasia of the radius	28981	IFT81	OMIM:617895
HP:0002984	Hypoplasia of the radius	2263	FGFR2	OMIM:149730
HP:0002984	Hypoplasia of the radius	2263	FGFR2	ORPHA:2363
HP:0002984	Hypoplasia of the radius	6154	RPL26	OMIM:614900
HP:0002984	Hypoplasia of the radius	157570	ESCO2	ORPHA:3103
HP:0002984	Hypoplasia of the radius	157570	ESCO2	ORPHA:2319
HP:0002984	Hypoplasia of the radius	6473	SHOX	OMIM:127300
HP:0002984	Hypoplasia of the radius	6473	SHOX	OMIM:249700
HP:0002984	Hypoplasia of the radius	6473	SHOX	ORPHA:240
HP:0002984	Hypoplasia of the radius	55159	RFWD3	OMIM:617784
HP:0002984	Hypoplasia of the radius	1723	DHODH	OMIM:263750
HP:0002984	Hypoplasia of the radius	1723	DHODH	ORPHA:246
HP:0002984	Hypoplasia of the radius	55215	FANCI	OMIM:609053
HP:0002984	Hypoplasia of the radius	92002	CCNQ	ORPHA:140952
HP:0002984	Hypoplasia of the radius	2261	FGFR3	ORPHA:2363
HP:0002984	Hypoplasia of the radius	2255	FGF10	ORPHA:2363
HP:0002984	Hypoplasia of the radius	4038	LRP4	ORPHA:3258
HP:0002984	Hypoplasia of the radius	4038	LRP4	OMIM:212780
HP:0002984	Hypoplasia of the radius	324	APC	ORPHA:3258
HP:0002984	Hypoplasia of the radius	2187	FANCB	ORPHA:3412
HP:0002984	Hypoplasia of the radius	2188	FANCF	OMIM:603467
HP:0002984	Hypoplasia of the radius	4920	ROR2	OMIM:268310
HP:0002984	Hypoplasia of the radius	9321	TRIP11	OMIM:200600
HP:0002984	Hypoplasia of the radius	5889	RAD51C	OMIM:613390
HP:0002984	Hypoplasia of the radius	7476	WNT7A	OMIM:228930
HP:0002984	Hypoplasia of the radius	7476	WNT7A	ORPHA:2879
HP:0002984	Hypoplasia of the radius	7476	WNT7A	OMIM:276820
HP:0002984	Hypoplasia of the radius	25836	NIPBL	OMIM:122470
HP:0002984	Hypoplasia of the radius	84464	SLX4	OMIM:613951
HP:0002984	Hypoplasia of the radius	9939	RBM8A	OMIM:274000
HP:0002984	Hypoplasia of the radius	6223	RPS19	OMIM:105650
HP:0002984	Hypoplasia of the radius	79087	ALG12	OMIM:607143
HP:0002984	Hypoplasia of the radius	6910	TBX5	OMIM:142900
HP:0002984	Hypoplasia of the radius	9401	RECQL4	OMIM:218600
HP:0002984	Hypoplasia of the radius	6926	TBX3	OMIM:181450
HP:0002984	Hypoplasia of the radius	3549	IHH	OMIM:607778
HP:0002984	Hypoplasia of the radius	9775	EIF4A3	OMIM:268305
HP:0002984	Hypoplasia of the radius	7516	XRCC2	OMIM:617247
HP:0002984	Hypoplasia of the radius	29980	DONSON	OMIM:617604
HP:0002984	Hypoplasia of the radius	545	ATR	OMIM:210600
HP:0002984	Hypoplasia of the radius	27125	AFF4	ORPHA:444077
HP:0002984	Hypoplasia of the radius	8241	RBM10	ORPHA:2886
HP:0005792	Short humerus	2535	FZD2	OMIM:164745
HP:0005792	Short humerus	2535	FZD2	ORPHA:93328
HP:0005792	Short humerus	9361	LONP1	OMIM:600373
HP:0005792	Short humerus	8200	GDF5	OMIM:200700
HP:0005792	Short humerus	64327	LMBR1	OMIM:200500
HP:0005792	Short humerus	64327	LMBR1	ORPHA:931
HP:0005792	Short humerus	6628	SNRPB	OMIM:117650
HP:0005792	Short humerus	10588	MTHFS	OMIM:618367
HP:0005792	Short humerus	9851	KIAA0753	OMIM:619479
HP:0005792	Short humerus	23483	TGDS	OMIM:616145
HP:0005792	Short humerus	10082	GPC6	OMIM:258315
HP:0005792	Short humerus	100151683	RNU4ATAC	OMIM:210710
HP:0005792	Short humerus	538	ATP7A	OMIM:304150
HP:0005792	Short humerus	11128	POLR3A	OMIM:264090
HP:0005792	Short humerus	11128	POLR3A	ORPHA:3455
HP:0005792	Short humerus	57167	SALL4	OMIM:607323
HP:0005792	Short humerus	57167	SALL4	ORPHA:959
HP:0005792	Short humerus	55764	IFT122	OMIM:218330
HP:0005792	Short humerus	145258	GSC	OMIM:602471
HP:0005792	Short humerus	2317	FLNB	OMIM:108720
HP:0005792	Short humerus	79087	ALG12	OMIM:607143
HP:0005792	Short humerus	9241	NOG	OMIM:186500
HP:0005792	Short humerus	157570	ESCO2	OMIM:268300
HP:0005792	Short humerus	4982	TNFRSF11B	OMIM:239000
HP:0005792	Short humerus	6910	TBX5	OMIM:142900
HP:0005792	Short humerus	114803	MYSM1	ORPHA:508542
HP:0005792	Short humerus	8540	AGPS	OMIM:600121
HP:0005792	Short humerus	9401	RECQL4	OMIM:218600
HP:0005792	Short humerus	6926	TBX3	OMIM:181450
HP:0005792	Short humerus	8443	GNPAT	OMIM:222765
HP:0005792	Short humerus	3549	IHH	OMIM:607778
HP:0005792	Short humerus	2187	FANCB	OMIM:314390
HP:0005792	Short humerus	7547	ZIC3	OMIM:314390
HP:0005792	Short humerus	8802	SUCLG1	ORPHA:17
HP:0005792	Short humerus	2316	FLNA	OMIM:309350
HP:0005792	Short humerus	5830	PEX5	OMIM:616716
HP:0006492	Aplasia/Hypoplasia of the fibula	64327	LMBR1	OMIM:200500
HP:0006492	Aplasia/Hypoplasia of the fibula	64327	LMBR1	ORPHA:931
HP:0006492	Aplasia/Hypoplasia of the fibula	65250	CPLANE1	OMIM:277170
HP:0006492	Aplasia/Hypoplasia of the fibula	9939	RBM8A	ORPHA:3320
HP:0006492	Aplasia/Hypoplasia of the fibula	9939	RBM8A	OMIM:274000
HP:0006492	Aplasia/Hypoplasia of the fibula	6913	TBX15	OMIM:260660
HP:0006492	Aplasia/Hypoplasia of the fibula	139285	AMER1	OMIM:300373
HP:0006492	Aplasia/Hypoplasia of the fibula	2535	FZD2	OMIM:164745
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	OMIM:200700
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	OMIM:615072
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	OMIM:201250
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	ORPHA:2098
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	OMIM:228900
HP:0006492	Aplasia/Hypoplasia of the fibula	79659	DYNC2H1	OMIM:613091
HP:0006492	Aplasia/Hypoplasia of the fibula	153241	CEP120	OMIM:616300
HP:0006492	Aplasia/Hypoplasia of the fibula	3899	AFF3	OMIM:619297
HP:0006492	Aplasia/Hypoplasia of the fibula	10082	GPC6	OMIM:258315
HP:0006492	Aplasia/Hypoplasia of the fibula	727857	BHLHA9	ORPHA:3329
HP:0006492	Aplasia/Hypoplasia of the fibula	658	BMPR1B	ORPHA:2098
HP:0006492	Aplasia/Hypoplasia of the fibula	3636	INPPL1	ORPHA:3144
HP:0006492	Aplasia/Hypoplasia of the fibula	23169	SLC35D1	ORPHA:3144
HP:0006492	Aplasia/Hypoplasia of the fibula	6473	SHOX	OMIM:127300
HP:0006492	Aplasia/Hypoplasia of the fibula	55764	IFT122	OMIM:218330
HP:0006492	Aplasia/Hypoplasia of the fibula	10262	SF3B4	ORPHA:1788
HP:0006492	Aplasia/Hypoplasia of the fibula	64093	SMOC1	ORPHA:1106
HP:0006492	Aplasia/Hypoplasia of the fibula	64093	SMOC1	OMIM:206920
HP:0006492	Aplasia/Hypoplasia of the fibula	5745	PTH1R	ORPHA:79106
HP:0006492	Aplasia/Hypoplasia of the fibula	5745	PTH1R	OMIM:600002
HP:0006492	Aplasia/Hypoplasia of the fibula	27125	AFF4	ORPHA:444077
HP:0006492	Aplasia/Hypoplasia of the fibula	6662	SOX9	ORPHA:140
HP:0006492	Aplasia/Hypoplasia of the fibula	6662	SOX9	OMIM:114290
HP:0006492	Aplasia/Hypoplasia of the fibula	9775	EIF4A3	OMIM:268305
HP:0006492	Aplasia/Hypoplasia of the fibula	1301	COL11A1	OMIM:228520
HP:0006492	Aplasia/Hypoplasia of the fibula	27152	INTU	OMIM:617925
HP:0006492	Aplasia/Hypoplasia of the fibula	4233	MET	OMIM:607278
HP:0006492	Aplasia/Hypoplasia of the fibula	2316	FLNA	OMIM:304120
HP:0006492	Aplasia/Hypoplasia of the fibula	545	ATR	OMIM:210600
HP:0006492	Aplasia/Hypoplasia of the fibula	25839	COG4	OMIM:618150
HP:0006492	Aplasia/Hypoplasia of the fibula	2317	FLNB	ORPHA:1263
HP:0006492	Aplasia/Hypoplasia of the fibula	7476	WNT7A	OMIM:228930
HP:0004975	Erlenmeyer flask deformity of the femurs	9842	PLEKHM1	OMIM:611497
HP:0004975	Erlenmeyer flask deformity of the femurs	9842	PLEKHM1	ORPHA:210110
HP:0004975	Erlenmeyer flask deformity of the femurs	56172	ANKH	OMIM:123000
HP:0004975	Erlenmeyer flask deformity of the femurs	10312	TCIRG1	ORPHA:210110
HP:0004975	Erlenmeyer flask deformity of the femurs	1186	CLCN7	ORPHA:210110
HP:0004975	Erlenmeyer flask deformity of the femurs	2629	GBA1	OMIM:230800
HP:0004975	Erlenmeyer flask deformity of the femurs	1436	CSF1R	OMIM:618476
HP:0004975	Erlenmeyer flask deformity of the femurs	5660	PSAP	OMIM:610539
HP:0004975	Erlenmeyer flask deformity of the femurs	10060	ABCC9	OMIM:239850
HP:0006423	Peg-like central prominence of distal tibial metaphyses	9131	AIFM1	OMIM:300232
HP:0006424	Elongated radius	4010	LMX1B	OMIM:161200
HP:0006426	Rudimentary to absent tibiae	2737	GLI3	ORPHA:93322
HP:0002979	Bowing of the legs	1497	CTNS	OMIM:219800
HP:0002979	Bowing of the legs	875	CBS	ORPHA:394
HP:0002979	Bowing of the legs	2131	EXT1	OMIM:133700
HP:0002979	Bowing of the legs	2131	EXT1	ORPHA:321
HP:0002979	Bowing of the legs	2131	EXT1	ORPHA:502
HP:0002979	Bowing of the legs	51256	TBC1D7	OMIM:248000
HP:0002979	Bowing of the legs	2132	EXT2	OMIM:133701
HP:0002979	Bowing of the legs	2132	EXT2	ORPHA:321
HP:0002979	Bowing of the legs	2972	BRF1	OMIM:616202
HP:0002979	Bowing of the legs	7360	UGP2	OMIM:618744
HP:0002979	Bowing of the legs	10992	SF3B2	OMIM:164210
HP:0002979	Bowing of the legs	538	ATP7A	OMIM:304150
HP:0002979	Bowing of the legs	538	ATP7A	ORPHA:198
HP:0002979	Bowing of the legs	1836	SLC26A2	ORPHA:56304
HP:0002979	Bowing of the legs	1836	SLC26A2	ORPHA:93307
HP:0002979	Bowing of the legs	1836	SLC26A2	OMIM:222600
HP:0002979	Bowing of the legs	3021	H3-3B	OMIM:619721
HP:0002979	Bowing of the legs	55790	CSGALNACT1	OMIM:618870
HP:0002979	Bowing of the legs	23322	RPGRIP1L	OMIM:611560
HP:0002979	Bowing of the legs	84572	GNPTG	OMIM:252605
HP:0002979	Bowing of the legs	64324	NSD1	OMIM:117550
HP:0002979	Bowing of the legs	7040	TGFB1	OMIM:131300
HP:0002979	Bowing of the legs	7040	TGFB1	ORPHA:1328
HP:0002979	Bowing of the legs	54880	BCOR	ORPHA:2712
HP:0002979	Bowing of the legs	815	CAMK2A	OMIM:617798
HP:0002979	Bowing of the legs	4853	NOTCH2	OMIM:102500
HP:0002979	Bowing of the legs	10381	TUBB3	ORPHA:300570
HP:0002979	Bowing of the legs	55699	IARS2	ORPHA:436174
HP:0002979	Bowing of the legs	55699	IARS2	OMIM:616007
HP:0002979	Bowing of the legs	83480	PUS3	ORPHA:488627
HP:0002979	Bowing of the legs	157680	VPS13B	OMIM:216550
HP:0002979	Bowing of the legs	157680	VPS13B	ORPHA:193
HP:0002979	Bowing of the legs	5566	PRKACA	ORPHA:289
HP:0002979	Bowing of the legs	5566	PRKACA	OMIM:619142
HP:0002979	Bowing of the legs	5567	PRKACB	ORPHA:289
HP:0002979	Bowing of the legs	5567	PRKACB	OMIM:619143
HP:0002979	Bowing of the legs	2735	GLI1	ORPHA:289
HP:0002979	Bowing of the legs	2735	GLI1	OMIM:618123
HP:0002979	Bowing of the legs	2121	EVC	ORPHA:289
HP:0002979	Bowing of the legs	2121	EVC	OMIM:225500
HP:0002979	Bowing of the legs	51626	DYNC2LI1	ORPHA:289
HP:0002979	Bowing of the legs	132884	EVC2	ORPHA:289
HP:0002979	Bowing of the legs	132884	EVC2	OMIM:225500
HP:0002979	Bowing of the legs	9839	ZEB2	ORPHA:261552
HP:0002979	Bowing of the legs	9839	ZEB2	ORPHA:261537
HP:0002979	Bowing of the legs	2720	GLB1	OMIM:253010
HP:0002979	Bowing of the legs	3425	IDUA	OMIM:607016
HP:0002979	Bowing of the legs	374654	KIF7	OMIM:607131
HP:0002979	Bowing of the legs	374654	KIF7	ORPHA:166024
HP:0002979	Bowing of the legs	5376	PMP22	ORPHA:3115
HP:0002979	Bowing of the legs	4359	MPZ	ORPHA:3115
HP:0002979	Bowing of the legs	1588	CYP19A1	ORPHA:91
HP:0002979	Bowing of the legs	9653	HS2ST1	OMIM:619194
HP:0002979	Bowing of the legs	3043	HBB	ORPHA:231214
HP:0002979	Bowing of the legs	3043	HBB	ORPHA:231226
HP:0002979	Bowing of the legs	6804	STX1A	ORPHA:904
HP:0002979	Bowing of the legs	7461	CLIP2	ORPHA:904
HP:0002979	Bowing of the legs	84277	DNAJC30	ORPHA:904
HP:0002979	Bowing of the legs	8468	FKBP6	ORPHA:904
HP:0002979	Bowing of the legs	5982	RFC2	ORPHA:904
HP:0002979	Bowing of the legs	2969	GTF2I	ORPHA:904
HP:0002979	Bowing of the legs	3984	LIMK1	ORPHA:904
HP:0002979	Bowing of the legs	9569	GTF2IRD1	ORPHA:904
HP:0002979	Bowing of the legs	155382	VPS37D	ORPHA:904
HP:0002979	Bowing of the legs	155368	METTL27	ORPHA:904
HP:0002979	Bowing of the legs	114049	BUD23	ORPHA:904
HP:0002979	Bowing of the legs	7458	EIF4H	ORPHA:904
HP:0002979	Bowing of the legs	84163	GTF2IRD2	ORPHA:904
HP:0002979	Bowing of the legs	9275	BCL7B	ORPHA:904
HP:0002979	Bowing of the legs	26608	TBL2	ORPHA:904
HP:0002979	Bowing of the legs	653361	NCF1	ORPHA:904
HP:0002979	Bowing of the legs	135886	TMEM270	ORPHA:904
HP:0002979	Bowing of the legs	51085	MLXIPL	ORPHA:904
HP:0002979	Bowing of the legs	9031	BAZ1B	ORPHA:904
HP:0002979	Bowing of the legs	2006	ELN	ORPHA:904
HP:0002979	Bowing of the legs	4952	OCRL	OMIM:309000
HP:0002979	Bowing of the legs	4952	OCRL	ORPHA:534
HP:0002979	Bowing of the legs	55027	HEATR3	OMIM:620072
HP:0002979	Bowing of the legs	26137	ZBTB20	OMIM:259050
HP:0002979	Bowing of the legs	54928	BPNT2	OMIM:614078
HP:0002979	Bowing of the legs	7030	TFE3	OMIM:301066
HP:0002979	Bowing of the legs	23162	MAPK8IP3	OMIM:618443
HP:0002979	Bowing of the legs	9394	HS6ST1	OMIM:614880
HP:0002979	Bowing of the legs	23483	TGDS	OMIM:616145
HP:0002979	Bowing of the legs	546	ATRX	OMIM:309580
HP:0002979	Bowing of the legs	1186	CLCN7	ORPHA:53
HP:0002979	Bowing of the legs	84695	LOXL3	ORPHA:250984
HP:0002979	Bowing of the legs	2200	FBN1	ORPHA:2462
HP:0002979	Bowing of the legs	6497	SKI	ORPHA:2462
HP:0002979	Bowing of the legs	6497	SKI	OMIM:182212
HP:0002979	Bowing of the legs	55081	IFT57	OMIM:617927
HP:0002979	Bowing of the legs	865	CBFB	OMIM:620099
HP:0002979	Bowing of the legs	8600	TNFSF11	OMIM:259710
HP:0002979	Bowing of the legs	9361	LONP1	OMIM:600373
HP:0002979	Bowing of the legs	10466	COG5	ORPHA:263487
HP:0002979	Bowing of the legs	26160	IFT172	OMIM:615630
HP:0002979	Bowing of the legs	23394	ADNP	OMIM:615873
HP:0002979	Bowing of the legs	7681	MKRN3	OMIM:176270
HP:0002979	Bowing of the legs	3653	IPW	OMIM:176270
HP:0002979	Bowing of the legs	54551	MAGEL2	OMIM:176270
HP:0002979	Bowing of the legs	791114	PWRN1	OMIM:176270
HP:0002979	Bowing of the legs	100033413	SNORD116-1	OMIM:176270
HP:0002979	Bowing of the legs	8924	HERC2	OMIM:176270
HP:0002979	Bowing of the legs	145624	PWAR1	OMIM:176270
HP:0002979	Bowing of the legs	23742	NPAP1	OMIM:176270
HP:0002979	Bowing of the legs	338433	SNORD115-1	OMIM:176270
HP:0002979	Bowing of the legs	411	ARSB	OMIM:253200
HP:0002979	Bowing of the legs	8882	ZPR1	OMIM:619321
HP:0002979	Bowing of the legs	137682	NDUFAF6	OMIM:618913
HP:0002979	Bowing of the legs	55784	MCTP2	ORPHA:1596
HP:0002979	Bowing of the legs	64135	IFIH1	OMIM:182250
HP:0002979	Bowing of the legs	153642	ARSK	OMIM:619698
HP:0002979	Bowing of the legs	84068	SLC10A7	OMIM:618363
HP:0002979	Bowing of the legs	5604	MAP2K1	ORPHA:1340
HP:0002979	Bowing of the legs	5605	MAP2K2	ORPHA:1340
HP:0002979	Bowing of the legs	3845	KRAS	ORPHA:1340
HP:0002979	Bowing of the legs	673	BRAF	ORPHA:1340
HP:0002979	Bowing of the legs	23111	SPART	ORPHA:101000
HP:0002979	Bowing of the legs	9451	EIF2AK3	OMIM:226980
HP:0002979	Bowing of the legs	54681	P4HTM	OMIM:618493
HP:0002979	Bowing of the legs	860	RUNX2	ORPHA:1452
HP:0002979	Bowing of the legs	1954	MEGF8	ORPHA:65759
HP:0002979	Bowing of the legs	6424	SFRP4	OMIM:265900
HP:0002979	Bowing of the legs	10526	IPO8	OMIM:619472
HP:0002979	Bowing of the legs	6711	SPTBN1	OMIM:619475
HP:0002979	Bowing of the legs	2588	GALNS	OMIM:253000
HP:0002979	Bowing of the legs	80152	CENPT	OMIM:618702
HP:0002979	Bowing of the legs	5184	PEPD	ORPHA:742
HP:0002979	Bowing of the legs	7227	TRPS1	ORPHA:502
HP:0002979	Bowing of the legs	374879	ZNF699	OMIM:619488
HP:0002979	Bowing of the legs	10651	MTX2	OMIM:619127
HP:0002979	Bowing of the legs	126792	B3GALT6	OMIM:271640
HP:0002979	Bowing of the legs	2990	GUSB	OMIM:253220
HP:0002979	Bowing of the legs	8139	GAN	ORPHA:643
HP:0002979	Bowing of the legs	26229	B3GAT3	OMIM:245600
HP:0002979	Bowing of the legs	83452	RAB33B	OMIM:615222
HP:0002979	Bowing of the legs	80169	CTC1	OMIM:612199
HP:0002979	Bowing of the legs	1311	COMP	ORPHA:750
HP:0002979	Bowing of the legs	1311	COMP	OMIM:177170
HP:0002979	Bowing of the legs	1311	COMP	ORPHA:93308
HP:0002979	Bowing of the legs	1576	CYP3A4	OMIM:619073
HP:0002979	Bowing of the legs	3835	KIF22	ORPHA:93360
HP:0002979	Bowing of the legs	65992	DDRGK1	OMIM:602557
HP:0002979	Bowing of the legs	65992	DDRGK1	ORPHA:93352
HP:0002979	Bowing of the legs	579	NKX3-2	OMIM:613330
HP:0002979	Bowing of the legs	8838	CCN6	OMIM:208230
HP:0002979	Bowing of the legs	8838	CCN6	ORPHA:1159
HP:0002979	Bowing of the legs	55325	UFSP2	OMIM:617974
HP:0002979	Bowing of the legs	9401	RECQL4	ORPHA:221016
HP:0002979	Bowing of the legs	11128	POLR3A	OMIM:264090
HP:0002979	Bowing of the legs	59341	TRPV4	ORPHA:93314
HP:0002979	Bowing of the legs	4796	TONSL	OMIM:271510
HP:0002979	Bowing of the legs	1298	COL9A2	OMIM:600204
HP:0002979	Bowing of the legs	1298	COL9A2	ORPHA:166002
HP:0002979	Bowing of the legs	58	ACTA1	ORPHA:171436
HP:0002979	Bowing of the legs	7169	TPM2	ORPHA:171436
HP:0002979	Bowing of the legs	4703	NEB	ORPHA:171436
HP:0002979	Bowing of the legs	10324	KLHL41	ORPHA:171436
HP:0002979	Bowing of the legs	56203	LMOD3	ORPHA:171436
HP:0002979	Bowing of the legs	1073	CFL2	ORPHA:171436
HP:0002979	Bowing of the legs	9321	TRIP11	OMIM:184260
HP:0002979	Bowing of the legs	51715	RAB23	OMIM:201000
HP:0002979	Bowing of the legs	176	ACAN	OMIM:608361
HP:0002979	Bowing of the legs	79631	EFL1	OMIM:617941
HP:0002979	Bowing of the legs	124583	CANT1	OMIM:251450
HP:0002979	Bowing of the legs	124583	CANT1	OMIM:617719
HP:0002979	Bowing of the legs	1297	COL9A1	ORPHA:166002
HP:0002979	Bowing of the legs	1299	COL9A3	ORPHA:166002
HP:0002979	Bowing of the legs	3417	IDH1	ORPHA:99646
HP:0002979	Bowing of the legs	284403	WDR62	OMIM:604317
HP:0002979	Bowing of the legs	4318	MMP9	OMIM:613073
HP:0002979	Bowing of the legs	3549	IHH	ORPHA:63446
HP:0002979	Bowing of the legs	3549	IHH	OMIM:607778
HP:0002979	Bowing of the legs	4998	ORC1	OMIM:224690
HP:0002979	Bowing of the legs	4052	LTBP1	OMIM:619451
HP:0002979	Bowing of the legs	7994	KAT6A	OMIM:616268
HP:0002979	Bowing of the legs	6137	RPL13	OMIM:618728
HP:0002979	Bowing of the legs	64131	XYLT1	OMIM:615777
HP:0002979	Bowing of the legs	3248	HPGD	ORPHA:2796
HP:0002979	Bowing of the legs	6578	SLCO2A1	ORPHA:2796
HP:0002979	Bowing of the legs	26123	TCTN3	ORPHA:2753
HP:0002979	Bowing of the legs	633	BGN	OMIM:300106
HP:0002979	Bowing of the legs	5442	POLRMT	OMIM:619743
HP:0002979	Bowing of the legs	23594	ORC6	OMIM:613803
HP:0002979	Bowing of the legs	64682	ANAPC1	ORPHA:221008
HP:0002979	Bowing of the legs	4921	DDR2	OMIM:271665
HP:0002979	Bowing of the legs	8074	FGF23	ORPHA:89937
HP:0002979	Bowing of the legs	9060	PAPSS2	OMIM:612847
HP:0002979	Bowing of the legs	51360	MBTPS2	OMIM:301014
HP:0002979	Bowing of the legs	249	ALPL	OMIM:241500
HP:0002979	Bowing of the legs	249	ALPL	OMIM:241510
HP:0002979	Bowing of the legs	8318	CDC45	OMIM:617063
HP:0002979	Bowing of the legs	1962	EHHADH	OMIM:615605
HP:0002979	Bowing of the legs	6569	SLC34A1	ORPHA:157215
HP:0002979	Bowing of the legs	11014	KDELR2	OMIM:619131
HP:0002979	Bowing of the legs	10491	CRTAP	OMIM:610682
HP:0002979	Bowing of the legs	3339	HSPG2	OMIM:255800
HP:0002979	Bowing of the legs	3339	HSPG2	ORPHA:1865
HP:0002979	Bowing of the legs	372	ARCN1	OMIM:617164
HP:0002979	Bowing of the legs	4507	MTAP	OMIM:112250
HP:0002979	Bowing of the legs	4763	NF1	ORPHA:97685
HP:0002979	Bowing of the legs	54	ACP5	ORPHA:1855
HP:0002979	Bowing of the legs	121340	SP7	OMIM:613849
HP:0002979	Bowing of the legs	79659	DYNC2H1	OMIM:613091
HP:0002979	Bowing of the legs	1300	COL10A1	OMIM:156500
HP:0002979	Bowing of the legs	1300	COL10A1	ORPHA:174
HP:0002979	Bowing of the legs	5447	POR	OMIM:201750
HP:0002979	Bowing of the legs	5447	POR	ORPHA:95699
HP:0002979	Bowing of the legs	5447	POR	OMIM:207410
HP:0002979	Bowing of the legs	55503	TRPV6	OMIM:618188
HP:0002979	Bowing of the legs	5593	PRKG2	OMIM:619638
HP:0002979	Bowing of the legs	100151683	RNU4ATAC	OMIM:210710
HP:0002979	Bowing of the legs	89970	RSPRY1	OMIM:616723
HP:0002979	Bowing of the legs	5352	PLOD2	OMIM:609220
HP:0002979	Bowing of the legs	4148	MATN3	OMIM:608728
HP:0002979	Bowing of the legs	91754	NEK9	OMIM:617022
HP:0002979	Bowing of the legs	91179	SCARF2	OMIM:600920
HP:0002979	Bowing of the legs	2263	FGFR2	OMIM:207410
HP:0002979	Bowing of the legs	3911	LAMA5	OMIM:620076
HP:0002979	Bowing of the legs	1301	COL11A1	ORPHA:440354
HP:0002979	Bowing of the legs	7476	WNT7A	OMIM:228930
HP:0002979	Bowing of the legs	7476	WNT7A	OMIM:276820
HP:0002979	Bowing of the legs	4125	MAN2B1	OMIM:248500
HP:0002979	Bowing of the legs	25885	POLR1A	OMIM:616462
HP:0002979	Bowing of the legs	55603	TENT5A	OMIM:617952
HP:0002979	Bowing of the legs	727857	BHLHA9	ORPHA:3329
HP:0002979	Bowing of the legs	284086	NEK8	OMIM:615415
HP:0002979	Bowing of the legs	9939	RBM8A	OMIM:274000
HP:0002979	Bowing of the legs	166929	SGMS2	OMIM:126550
HP:0002979	Bowing of the legs	55151	TMEM38B	OMIM:615066
HP:0002979	Bowing of the legs	25871	NEPRO	OMIM:618853
HP:0002979	Bowing of the legs	8792	TNFRSF11A	OMIM:602080
HP:0002979	Bowing of the legs	649	BMP1	OMIM:614856
HP:0002979	Bowing of the legs	3930	LBR	OMIM:618019
HP:0002979	Bowing of the legs	55112	DYNC2I1	OMIM:615503
HP:0002979	Bowing of the legs	4322	MMP13	OMIM:602111
HP:0002979	Bowing of the legs	4322	MMP13	ORPHA:93356
HP:0002979	Bowing of the legs	2261	FGFR3	OMIM:616482
HP:0002979	Bowing of the legs	2261	FGFR3	ORPHA:85165
HP:0002979	Bowing of the legs	65250	CPLANE1	OMIM:277170
HP:0002979	Bowing of the legs	1184	CLCN5	OMIM:300554
HP:0002979	Bowing of the legs	1184	CLCN5	OMIM:300009
HP:0002979	Bowing of the legs	142680	SLC34A3	OMIM:241530
HP:0002979	Bowing of the legs	9158	FIBP	ORPHA:500095
HP:0002979	Bowing of the legs	1594	CYP27B1	ORPHA:289157
HP:0002979	Bowing of the legs	1594	CYP27B1	OMIM:264700
HP:0002979	Bowing of the legs	120227	CYP2R1	ORPHA:289157
HP:0002979	Bowing of the legs	120227	CYP2R1	OMIM:600081
HP:0002979	Bowing of the legs	2335	FN1	ORPHA:93315
HP:0002979	Bowing of the legs	1280	COL2A1	ORPHA:93315
HP:0002979	Bowing of the legs	1280	COL2A1	OMIM:156550
HP:0002979	Bowing of the legs	23314	SATB2	ORPHA:251028
HP:0002979	Bowing of the legs	1277	COL1A1	OMIM:259420
HP:0002979	Bowing of the legs	1277	COL1A1	OMIM:114000
HP:0002979	Bowing of the legs	1277	COL1A1	OMIM:166210
HP:0002979	Bowing of the legs	1278	COL1A2	OMIM:259420
HP:0002979	Bowing of the legs	1278	COL1A2	OMIM:166210
HP:0002979	Bowing of the legs	6473	SHOX	OMIM:127300
HP:0002979	Bowing of the legs	6473	SHOX	ORPHA:314795
HP:0002979	Bowing of the legs	6473	SHOX	ORPHA:240
HP:0002979	Bowing of the legs	6662	SOX9	ORPHA:140
HP:0002979	Bowing of the legs	6662	SOX9	OMIM:114290
HP:0002979	Bowing of the legs	5159	PDGFRB	OMIM:601812
HP:0002979	Bowing of the legs	22858	CILK1	OMIM:612651
HP:0002979	Bowing of the legs	64093	SMOC1	OMIM:206920
HP:0002979	Bowing of the legs	64093	SMOC1	ORPHA:1106
HP:0002979	Bowing of the legs	4041	LRP5	OMIM:259770
HP:0002979	Bowing of the legs	388015	RTL1	ORPHA:96334
HP:0002979	Bowing of the legs	8788	DLK1	ORPHA:96334
HP:0002979	Bowing of the legs	55384	MEG3	ORPHA:96334
HP:0002979	Bowing of the legs	2316	FLNA	OMIM:304120
HP:0002979	Bowing of the legs	2316	FLNA	OMIM:309350
HP:0002979	Bowing of the legs	64175	P3H1	OMIM:610915
HP:0002979	Bowing of the legs	54808	DYM	OMIM:223800
HP:0002979	Bowing of the legs	5251	PHEX	OMIM:307800
HP:0002979	Bowing of the legs	6023	RMRP	ORPHA:175
HP:0002979	Bowing of the legs	1758	DMP1	ORPHA:289176
HP:0002979	Bowing of the legs	5167	ENPP1	ORPHA:289176
HP:0002979	Bowing of the legs	8218	CLTCL1	ORPHA:453510
HP:0002979	Bowing of the legs	9469	CHST3	OMIM:143095
HP:0002979	Bowing of the legs	92344	GORAB	OMIM:231070
HP:0002979	Bowing of the legs	2317	FLNB	OMIM:108721
HP:0002979	Bowing of the legs	2317	FLNB	OMIM:108720
HP:0002979	Bowing of the legs	1302	COL11A2	ORPHA:1427
HP:0002979	Bowing of the legs	3977	LIFR	OMIM:601559
HP:0002979	Bowing of the legs	7421	VDR	OMIM:277440
HP:0002979	Bowing of the legs	5116	PCNT	OMIM:210720
HP:0002979	Bowing of the legs	5130	PCYT1A	OMIM:608940
HP:0002979	Bowing of the legs	26040	SETBP1	OMIM:269150
HP:0002979	Bowing of the legs	26040	SETBP1	ORPHA:798
HP:0002979	Bowing of the legs	871	SERPINH1	OMIM:613848
HP:0002979	Bowing of the legs	4982	TNFRSF11B	OMIM:239000
HP:0002979	Bowing of the legs	8200	GDF5	OMIM:201250
HP:0002979	Bowing of the legs	57003	CCDC47	OMIM:618268
HP:0001771	Achilles tendon contracture	6445	SGCG	ORPHA:353
HP:0001771	Achilles tendon contracture	23299	BICD2	OMIM:615290
HP:0001771	Achilles tendon contracture	55906	ZC4H2	OMIM:301041
HP:0001771	Achilles tendon contracture	2273	FHL1	OMIM:300696
HP:0001771	Achilles tendon contracture	2273	FHL1	OMIM:300695
HP:0001771	Achilles tendon contracture	2273	FHL1	ORPHA:98863
HP:0001771	Achilles tendon contracture	7273	TTN	OMIM:603689
HP:0001771	Achilles tendon contracture	79147	FKRP	OMIM:606612
HP:0001771	Achilles tendon contracture	79147	FKRP	ORPHA:370980
HP:0001771	Achilles tendon contracture	79147	FKRP	OMIM:607155
HP:0001771	Achilles tendon contracture	51651	PTRH2	OMIM:616263
HP:0001771	Achilles tendon contracture	51651	PTRH2	ORPHA:456312
HP:0001771	Achilles tendon contracture	54888	NSUN2	OMIM:611091
HP:0001771	Achilles tendon contracture	3094	HINT1	ORPHA:324442
HP:0001771	Achilles tendon contracture	339855	KY	OMIM:617114
HP:0001771	Achilles tendon contracture	23516	SLC39A14	OMIM:617013
HP:0001771	Achilles tendon contracture	4010	LMX1B	ORPHA:2614
HP:0001771	Achilles tendon contracture	79912	PYROXD1	OMIM:617258
HP:0001771	Achilles tendon contracture	1756	DMD	OMIM:310200
HP:0001771	Achilles tendon contracture	291	SLC25A4	OMIM:615418
HP:0001771	Achilles tendon contracture	2010	EMD	OMIM:310300
HP:0001771	Achilles tendon contracture	2010	EMD	ORPHA:98863
HP:0001771	Achilles tendon contracture	57679	ALS2	OMIM:607225
HP:0001771	Achilles tendon contracture	6442	SGCA	ORPHA:62
HP:0001771	Achilles tendon contracture	4556	MT-TE	ORPHA:2596
HP:0001771	Achilles tendon contracture	9990	SLC12A6	OMIM:620068
HP:0001771	Achilles tendon contracture	1292	COL6A2	OMIM:255600
HP:0001771	Achilles tendon contracture	1292	COL6A2	ORPHA:610
HP:0001771	Achilles tendon contracture	9499	MYOT	OMIM:609200
HP:0001771	Achilles tendon contracture	10060	ABCC9	OMIM:619719
HP:0001771	Achilles tendon contracture	4000	LMNA	OMIM:181350
HP:0001771	Achilles tendon contracture	4000	LMNA	OMIM:613205
HP:0001771	Achilles tendon contracture	4000	LMNA	ORPHA:98855
HP:0001771	Achilles tendon contracture	4000	LMNA	ORPHA:98853
HP:0001771	Achilles tendon contracture	5339	PLEC	ORPHA:254361
HP:0001771	Achilles tendon contracture	3714	JAG2	OMIM:619566
HP:0001771	Achilles tendon contracture	113179	ADAT3	ORPHA:363528
HP:0001771	Achilles tendon contracture	51506	UFC1	OMIM:618076
HP:0001771	Achilles tendon contracture	2705	GJB1	OMIM:302800
HP:0001771	Achilles tendon contracture	58	ACTA1	OMIM:616852
HP:0001771	Achilles tendon contracture	26090	ABHD12	OMIM:612674
HP:0001771	Achilles tendon contracture	2218	FKTN	ORPHA:370980
HP:0001771	Achilles tendon contracture	729920	CRPPA	ORPHA:370980
HP:0001771	Achilles tendon contracture	10585	POMT1	ORPHA:370980
HP:0001771	Achilles tendon contracture	3265	HRAS	OMIM:218040
HP:0001771	Achilles tendon contracture	55768	NGLY1	ORPHA:404454
HP:0001771	Achilles tendon contracture	2799	GNS	OMIM:252940
HP:0001771	Achilles tendon contracture	4976	OPA1	OMIM:210000
HP:0001771	Achilles tendon contracture	9215	LARGE1	OMIM:608840
HP:0001771	Achilles tendon contracture	1303	COL12A1	ORPHA:610
HP:0001771	Achilles tendon contracture	1291	COL6A1	ORPHA:610
HP:0001771	Achilles tendon contracture	1293	COL6A3	ORPHA:610
HP:0001771	Achilles tendon contracture	79188	TMEM43	ORPHA:98853
HP:0001771	Achilles tendon contracture	23345	SYNE1	ORPHA:98853
HP:0001771	Achilles tendon contracture	23224	SYNE2	ORPHA:98853
HP:0006431	Proximal femoral metaphyseal abnormality	59341	TRPV4	OMIM:113500
HP:0006431	Proximal femoral metaphyseal abnormality	79848	CSPP1	ORPHA:397715
HP:0006431	Proximal femoral metaphyseal abnormality	9786	KIAA0586	ORPHA:397715
HP:0006431	Proximal femoral metaphyseal abnormality	1300	COL10A1	ORPHA:174
HP:0006431	Proximal femoral metaphyseal abnormality	755	CFAP410	OMIM:602271
HP:0006431	Proximal femoral metaphyseal abnormality	51119	SBDS	OMIM:260400
HP:0006431	Proximal femoral metaphyseal abnormality	134218	DNAJC21	OMIM:260400
HP:0006431	Proximal femoral metaphyseal abnormality	6729	SRP54	OMIM:260400
HP:0006431	Proximal femoral metaphyseal abnormality	55325	UFSP2	OMIM:142669
HP:0006432	Trapezoidal distal femoral condyles	5251	PHEX	OMIM:307800
HP:0006432	Trapezoidal distal femoral condyles	5251	PHEX	ORPHA:89936
HP:0006433	Radial dysplasia	57167	SALL4	ORPHA:959
HP:0006433	Radial dysplasia	54809	SAMD9	OMIM:617053
HP:0006433	Radial dysplasia	2737	GLI3	ORPHA:93322
HP:0006433	Radial dysplasia	5888	RAD51	OMIM:617244
HP:0005736	Short tibia	8200	GDF5	OMIM:200700
HP:0005736	Short tibia	8200	GDF5	OMIM:201250
HP:0005736	Short tibia	8200	GDF5	ORPHA:2098
HP:0005736	Short tibia	64327	LMBR1	OMIM:200500
HP:0005736	Short tibia	64327	LMBR1	OMIM:188740
HP:0005736	Short tibia	64327	LMBR1	ORPHA:93405
HP:0005736	Short tibia	153241	CEP120	OMIM:616300
HP:0005736	Short tibia	10082	GPC6	OMIM:258315
HP:0005736	Short tibia	7355	SLC35A2	ORPHA:356961
HP:0005736	Short tibia	658	BMPR1B	ORPHA:2098
HP:0005736	Short tibia	6473	SHOX	OMIM:127300
HP:0005736	Short tibia	6473	SHOX	ORPHA:240
HP:0005736	Short tibia	6473	SHOX	OMIM:249700
HP:0005736	Short tibia	64093	SMOC1	ORPHA:1106
HP:0005736	Short tibia	79087	ALG12	OMIM:607143
HP:0005736	Short tibia	2317	FLNB	ORPHA:56305
HP:0005736	Short tibia	3549	IHH	OMIM:607778
HP:0005736	Short tibia	3977	LIFR	OMIM:601559
HP:0005736	Short tibia	9775	EIF4A3	OMIM:268305
HP:0005736	Short tibia	6469	SHH	ORPHA:93405
HP:0005736	Short tibia	27152	INTU	OMIM:617925
HP:0005736	Short tibia	388015	RTL1	ORPHA:96334
HP:0005736	Short tibia	8788	DLK1	ORPHA:96334
HP:0005736	Short tibia	55384	MEG3	ORPHA:96334
HP:0005736	Short tibia	3911	LAMA5	OMIM:620076
HP:0005736	Short tibia	57688	ZSWIM6	OMIM:603671
HP:0005736	Short tibia	29980	DONSON	OMIM:251230
HP:0005736	Short tibia	26123	TCTN3	OMIM:258860
HP:0005736	Short tibia	2737	GLI3	ORPHA:93322
HP:0005736	Short tibia	4750	NEK1	OMIM:263520
HP:0005736	Short tibia	219844	HYLS1	OMIM:236680
HP:0006437	Disproportionate prominence of the femoral medial condyle	4010	LMX1B	OMIM:161200
HP:0006438	Enlargement of the distal femoral epiphysis	3549	IHH	OMIM:607778
HP:0006440	Increased density of long bone diaphyses	2316	FLNA	OMIM:305620
HP:0006442	Hypoplasia of proximal fibula	545	ATR	OMIM:210600
HP:0006442	Hypoplasia of proximal fibula	25839	COG4	OMIM:618150
HP:0006443	Patellar aplasia	1146	CHRNG	OMIM:265000
HP:0006443	Patellar aplasia	7476	WNT7A	OMIM:228930
HP:0006443	Patellar aplasia	4998	ORC1	OMIM:224690
HP:0006443	Patellar aplasia	4998	ORC1	ORPHA:2554
HP:0006443	Patellar aplasia	23522	KAT6B	OMIM:606170
HP:0006443	Patellar aplasia	23522	KAT6B	ORPHA:85201
HP:0006443	Patellar aplasia	4010	LMX1B	ORPHA:2614
HP:0006443	Patellar aplasia	4010	LMX1B	OMIM:161200
HP:0006443	Patellar aplasia	4010	LMX1B	ORPHA:495818
HP:0006443	Patellar aplasia	727857	BHLHA9	ORPHA:3329
HP:0006443	Patellar aplasia	9401	RECQL4	ORPHA:221016
HP:0006443	Patellar aplasia	9401	RECQL4	OMIM:218600
HP:0006443	Patellar aplasia	9496	TBX4	OMIM:147891
HP:0006443	Patellar aplasia	64327	LMBR1	ORPHA:988
HP:0006443	Patellar aplasia	64327	LMBR1	OMIM:135750
HP:0006443	Patellar aplasia	6469	SHH	ORPHA:988
HP:0006443	Patellar aplasia	9939	RBM8A	OMIM:274000
HP:0006443	Patellar aplasia	157570	ESCO2	ORPHA:3103
HP:0006443	Patellar aplasia	81620	CDT1	ORPHA:2554
HP:0006443	Patellar aplasia	81620	CDT1	OMIM:613804
HP:0006443	Patellar aplasia	5000	ORC4	ORPHA:2554
HP:0006443	Patellar aplasia	5000	ORC4	OMIM:613800
HP:0006443	Patellar aplasia	23594	ORC6	ORPHA:2554
HP:0006443	Patellar aplasia	23594	ORC6	OMIM:613803
HP:0006443	Patellar aplasia	8318	CDC45	ORPHA:2554
HP:0006443	Patellar aplasia	990	CDC6	ORPHA:2554
HP:0006443	Patellar aplasia	990	CDC6	OMIM:613805
HP:0006443	Patellar aplasia	51053	GMNN	ORPHA:2554
HP:0006443	Patellar aplasia	51053	GMNN	OMIM:616835
HP:0006443	Patellar aplasia	6473	SHOX	ORPHA:240
HP:0006443	Patellar aplasia	6812	STXBP1	ORPHA:495818
HP:0006443	Patellar aplasia	29980	DONSON	OMIM:617604
HP:0006443	Patellar aplasia	64682	ANAPC1	ORPHA:221008
HP:0006446	Dysplastic patella	1146	CHRNG	OMIM:265000
HP:0005743	Avascular necrosis of the capital femoral epiphysis	538	ATP7A	ORPHA:198
HP:0005743	Avascular necrosis of the capital femoral epiphysis	55898	UNC45A	OMIM:619377
HP:0005743	Avascular necrosis of the capital femoral epiphysis	26277	TINF2	OMIM:613990
HP:0005743	Avascular necrosis of the capital femoral epiphysis	91754	NEK9	OMIM:614262
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9652	SKIC3	OMIM:222470
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1857	DVL3	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7474	WNT5A	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1855	DVL1	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2535	FZD2	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1387	CREBBP	ORPHA:353277
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1387	CREBBP	ORPHA:353281
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2335	FN1	ORPHA:93315
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	ORPHA:93315
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	OMIM:608805
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	OMIM:150600
HP:0005743	Avascular necrosis of the capital femoral epiphysis	81031	SLC2A10	ORPHA:3342
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9719	ADAMTSL2	ORPHA:1901
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9509	ADAMTS2	ORPHA:1901
HP:0005743	Avascular necrosis of the capital femoral epiphysis	4796	TONSL	ORPHA:93357
HP:0005743	Avascular necrosis of the capital femoral epiphysis	4148	MATN3	ORPHA:93311
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2131	EXT1	ORPHA:502
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	ORPHA:502
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	OMIM:190350
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	OMIM:190351
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	ORPHA:77258
HP:0005743	Avascular necrosis of the capital femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0005743	Avascular necrosis of the capital femoral epiphysis	11277	TREX1	ORPHA:247691
HP:0005743	Avascular necrosis of the capital femoral epiphysis	59341	TRPV4	OMIM:617383
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1311	COMP	OMIM:132400
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1311	COMP	ORPHA:93308
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2033	EP300	ORPHA:353284
HP:0005743	Avascular necrosis of the capital femoral epiphysis	10847	SRCAP	ORPHA:2044
HP:0005743	Avascular necrosis of the capital femoral epiphysis	25782	RAB3GAP2	OMIM:212720
HP:0005743	Avascular necrosis of the capital femoral epiphysis	64374	SIL1	ORPHA:559
HP:0005743	Avascular necrosis of the capital femoral epiphysis	51763	INPP5K	ORPHA:559
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1278	COL1A2	ORPHA:1899
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1277	COL1A1	ORPHA:1899
HP:0006450	Multicentric ossification of proximal femoral epiphyses	54808	DYM	OMIM:223800
HP:0032308	Increased circulating procalcitonin concentration	135	ADORA2A	ORPHA:363549
HP:0032309	Abnormal granulocyte count	4594	MMUT	ORPHA:289916
HP:0032309	Abnormal granulocyte count	4594	MMUT	OMIM:251000
HP:0032309	Abnormal granulocyte count	4594	MMUT	ORPHA:79312
HP:0032309	Abnormal granulocyte count	867	CBL	ORPHA:98850
HP:0032309	Abnormal granulocyte count	861	RUNX1	ORPHA:98850
HP:0032309	Abnormal granulocyte count	695	BTK	OMIM:300755
HP:0032309	Abnormal granulocyte count	695	BTK	ORPHA:47
HP:0032309	Abnormal granulocyte count	26235	FBXL4	OMIM:615471
HP:0032309	Abnormal granulocyte count	54892	NCAPG2	OMIM:618460
HP:0032309	Abnormal granulocyte count	23241	PACS2	OMIM:618067
HP:0032309	Abnormal granulocyte count	6948	TCN2	OMIM:275350
HP:0032309	Abnormal granulocyte count	6948	TCN2	ORPHA:859
HP:0032309	Abnormal granulocyte count	6218	RPS17	OMIM:612527
HP:0032309	Abnormal granulocyte count	6218	RPS17	ORPHA:124
HP:0032309	Abnormal granulocyte count	959	CD40LG	OMIM:308230
HP:0032309	Abnormal granulocyte count	79650	USB1	OMIM:604173
HP:0032309	Abnormal granulocyte count	5551	PRF1	ORPHA:540
HP:0032309	Abnormal granulocyte count	5551	PRF1	ORPHA:88
HP:0032309	Abnormal granulocyte count	8676	STX11	ORPHA:540
HP:0032309	Abnormal granulocyte count	8676	STX11	OMIM:603552
HP:0032309	Abnormal granulocyte count	6813	STXBP2	ORPHA:540
HP:0032309	Abnormal granulocyte count	10559	SLC35A1	ORPHA:238459
HP:0032309	Abnormal granulocyte count	10559	SLC35A1	OMIM:603585
HP:0032309	Abnormal granulocyte count	54809	SAMD9	OMIM:619041
HP:0032309	Abnormal granulocyte count	114803	MYSM1	ORPHA:508542
HP:0032309	Abnormal granulocyte count	9948	WDR1	OMIM:150550
HP:0032309	Abnormal granulocyte count	2175	FANCA	OMIM:227650
HP:0032309	Abnormal granulocyte count	2120	ETV6	OMIM:616216
HP:0032309	Abnormal granulocyte count	55215	FANCI	OMIM:609053
HP:0032309	Abnormal granulocyte count	4552	MTRR	ORPHA:2169
HP:0032309	Abnormal granulocyte count	65082	VPS33A	OMIM:617303
HP:0032309	Abnormal granulocyte count	55788	LMBRD1	OMIM:277380
HP:0032309	Abnormal granulocyte count	55788	LMBRD1	ORPHA:79284
HP:0032309	Abnormal granulocyte count	973	CD79A	OMIM:613501
HP:0032309	Abnormal granulocyte count	973	CD79A	ORPHA:33110
HP:0032309	Abnormal granulocyte count	29760	BLNK	OMIM:613502
HP:0032309	Abnormal granulocyte count	29760	BLNK	ORPHA:33110
HP:0032309	Abnormal granulocyte count	1130	LYST	OMIM:214500
HP:0032309	Abnormal granulocyte count	1130	LYST	ORPHA:167
HP:0032309	Abnormal granulocyte count	9837	GINS1	OMIM:617827
HP:0032309	Abnormal granulocyte count	2122	MECOM	OMIM:616738
HP:0032309	Abnormal granulocyte count	7015	TERT	OMIM:613989
HP:0032309	Abnormal granulocyte count	7015	TERT	ORPHA:88
HP:0032309	Abnormal granulocyte count	331	XIAP	OMIM:308240
HP:0032309	Abnormal granulocyte count	4068	SH2D1A	OMIM:308240
HP:0032309	Abnormal granulocyte count	8029	CUBN	ORPHA:35858
HP:0032309	Abnormal granulocyte count	81693	AMN	ORPHA:35858
HP:0032309	Abnormal granulocyte count	219285	SAMD9L	OMIM:159550
HP:0032309	Abnormal granulocyte count	54	ACP5	OMIM:607944
HP:0032309	Abnormal granulocyte count	3458	IFNG	ORPHA:88
HP:0032309	Abnormal granulocyte count	7012	TERC	ORPHA:88
HP:0032309	Abnormal granulocyte count	2530	FUT8	OMIM:618005
HP:0032309	Abnormal granulocyte count	7037	TFRC	OMIM:616740
HP:0032309	Abnormal granulocyte count	816	CAMK2B	OMIM:617799
HP:0032309	Abnormal granulocyte count	7852	CXCR4	OMIM:193670
HP:0032309	Abnormal granulocyte count	7852	CXCR4	ORPHA:51636
HP:0032309	Abnormal granulocyte count	92579	G6PC3	OMIM:612541
HP:0032309	Abnormal granulocyte count	28956	LAMTOR2	ORPHA:90023
HP:0032309	Abnormal granulocyte count	28956	LAMTOR2	OMIM:610798
HP:0032309	Abnormal granulocyte count	8546	AP3B1	OMIM:608233
HP:0032309	Abnormal granulocyte count	157680	VPS13B	OMIM:216550
HP:0032309	Abnormal granulocyte count	157680	VPS13B	ORPHA:193
HP:0032309	Abnormal granulocyte count	5095	PCCA	OMIM:606054
HP:0032309	Abnormal granulocyte count	5096	PCCB	OMIM:606054
HP:0032309	Abnormal granulocyte count	112812	FDX2	OMIM:251900
HP:0032309	Abnormal granulocyte count	958	CD40	OMIM:606843
HP:0032309	Abnormal granulocyte count	2178	FANCE	OMIM:600901
HP:0032309	Abnormal granulocyte count	4478	MSN	OMIM:300988
HP:0032309	Abnormal granulocyte count	4700	NDUFA6	OMIM:618253
HP:0032309	Abnormal granulocyte count	175	AGA	OMIM:208400
HP:0032309	Abnormal granulocyte count	5826	ABCD4	OMIM:614857
HP:0032309	Abnormal granulocyte count	326625	MMAB	OMIM:251110
HP:0032309	Abnormal granulocyte count	5873	RAB27A	ORPHA:79477
HP:0032309	Abnormal granulocyte count	2328	FMO3	OMIM:602079
HP:0032309	Abnormal granulocyte count	8943	AP3D1	OMIM:617050
HP:0032309	Abnormal granulocyte count	2623	GATA1	OMIM:300835
HP:0032309	Abnormal granulocyte count	2623	GATA1	ORPHA:124
HP:0032309	Abnormal granulocyte count	29927	SEC61A1	OMIM:617056
HP:0032309	Abnormal granulocyte count	6135	RPL11	OMIM:612562
HP:0032309	Abnormal granulocyte count	6135	RPL11	ORPHA:124
HP:0032309	Abnormal granulocyte count	9401	RECQL4	ORPHA:221016
HP:0032309	Abnormal granulocyte count	6201	RPS7	OMIM:612563
HP:0032309	Abnormal granulocyte count	6201	RPS7	ORPHA:124
HP:0032309	Abnormal granulocyte count	6154	RPL26	OMIM:614900
HP:0032309	Abnormal granulocyte count	6154	RPL26	ORPHA:124
HP:0032309	Abnormal granulocyte count	7456	WIPF1	ORPHA:906
HP:0032309	Abnormal granulocyte count	6789	STK4	OMIM:614868
HP:0032309	Abnormal granulocyte count	4796	TONSL	ORPHA:93357
HP:0032309	Abnormal granulocyte count	4796	TONSL	OMIM:271510
HP:0032309	Abnormal granulocyte count	7036	TFR2	OMIM:604250
HP:0032309	Abnormal granulocyte count	166785	MMAA	OMIM:251100
HP:0032309	Abnormal granulocyte count	3507	IGHM	OMIM:601495
HP:0032309	Abnormal granulocyte count	3507	IGHM	ORPHA:33110
HP:0032309	Abnormal granulocyte count	25839	COG4	OMIM:618150
HP:0032309	Abnormal granulocyte count	6141	RPL18	OMIM:618310
HP:0032309	Abnormal granulocyte count	6141	RPL18	ORPHA:124
HP:0032309	Abnormal granulocyte count	3845	KRAS	OMIM:614470
HP:0032309	Abnormal granulocyte count	4893	NRAS	OMIM:614470
HP:0032309	Abnormal granulocyte count	150274	HSCB	OMIM:619523
HP:0032309	Abnormal granulocyte count	11311	VPS45	OMIM:615285
HP:0032309	Abnormal granulocyte count	50485	SMARCAL1	ORPHA:1830
HP:0032309	Abnormal granulocyte count	50485	SMARCAL1	OMIM:242900
HP:0032309	Abnormal granulocyte count	57724	EPG5	OMIM:242840
HP:0032309	Abnormal granulocyte count	2937	GSS	OMIM:266130
HP:0032309	Abnormal granulocyte count	2177	FANCD2	OMIM:227646
HP:0032309	Abnormal granulocyte count	2176	FANCC	OMIM:227645
HP:0032309	Abnormal granulocyte count	2189	FANCG	OMIM:614082
HP:0032309	Abnormal granulocyte count	6603	SMARCD2	OMIM:617475
HP:0032309	Abnormal granulocyte count	84522	JAGN1	OMIM:616022
HP:0032309	Abnormal granulocyte count	5295	PIK3R1	OMIM:615214
HP:0032309	Abnormal granulocyte count	5295	PIK3R1	ORPHA:33110
HP:0032309	Abnormal granulocyte count	4194	MDM4	OMIM:618849
HP:0032309	Abnormal granulocyte count	25974	MMACHC	ORPHA:79282
HP:0032309	Abnormal granulocyte count	25974	MMACHC	OMIM:277400
HP:0032309	Abnormal granulocyte count	3930	LBR	OMIM:169400
HP:0032309	Abnormal granulocyte count	51567	TDP2	OMIM:616949
HP:0032309	Abnormal granulocyte count	404672	GTF2H5	ORPHA:33364
HP:0032309	Abnormal granulocyte count	404672	GTF2H5	OMIM:616395
HP:0032309	Abnormal granulocyte count	833	CARS1	ORPHA:33364
HP:0032309	Abnormal granulocyte count	2068	ERCC2	ORPHA:33364
HP:0032309	Abnormal granulocyte count	7737	RNF113A	ORPHA:33364
HP:0032309	Abnormal granulocyte count	136647	MPLKIP	ORPHA:33364
HP:0032309	Abnormal granulocyte count	6897	TARS1	ORPHA:33364
HP:0032309	Abnormal granulocyte count	2071	ERCC3	ORPHA:33364
HP:0032309	Abnormal granulocyte count	2961	GTF2E2	ORPHA:33364
HP:0032309	Abnormal granulocyte count	9451	EIF2AK3	ORPHA:1667
HP:0032309	Abnormal granulocyte count	6223	RPS19	OMIM:105650
HP:0032309	Abnormal granulocyte count	6223	RPS19	ORPHA:124
HP:0032309	Abnormal granulocyte count	6138	RPL15	ORPHA:124
HP:0032309	Abnormal granulocyte count	6229	RPS24	ORPHA:124
HP:0032309	Abnormal granulocyte count	6125	RPL5	ORPHA:124
HP:0032309	Abnormal granulocyte count	6204	RPS10	ORPHA:124
HP:0032309	Abnormal granulocyte count	6224	RPS20	ORPHA:124
HP:0032309	Abnormal granulocyte count	6165	RPL35A	ORPHA:124
HP:0032309	Abnormal granulocyte count	6232	RPS27	ORPHA:124
HP:0032309	Abnormal granulocyte count	6231	RPS26	ORPHA:124
HP:0032309	Abnormal granulocyte count	11224	RPL35	ORPHA:124
HP:0032309	Abnormal granulocyte count	6160	RPL31	ORPHA:124
HP:0032309	Abnormal granulocyte count	6155	RPL27	ORPHA:124
HP:0032309	Abnormal granulocyte count	6210	RPS15A	ORPHA:124
HP:0032309	Abnormal granulocyte count	90121	TSR2	ORPHA:124
HP:0032309	Abnormal granulocyte count	6235	RPS29	ORPHA:124
HP:0032309	Abnormal granulocyte count	51816	ADA2	ORPHA:124
HP:0032309	Abnormal granulocyte count	5371	PML	ORPHA:520
HP:0032309	Abnormal granulocyte count	5914	RARA	ORPHA:520
HP:0032309	Abnormal granulocyte count	359948	IRF2BP2	ORPHA:520
HP:0032309	Abnormal granulocyte count	81608	FIP1L1	ORPHA:520
HP:0032309	Abnormal granulocyte count	4869	NPM1	ORPHA:520
HP:0032309	Abnormal granulocyte count	5573	PRKAR1A	ORPHA:520
HP:0032309	Abnormal granulocyte count	54880	BCOR	ORPHA:520
HP:0032309	Abnormal granulocyte count	64859	NABP1	ORPHA:520
HP:0032309	Abnormal granulocyte count	6777	STAT5B	ORPHA:520
HP:0032309	Abnormal granulocyte count	4926	NUMA1	ORPHA:520
HP:0032309	Abnormal granulocyte count	7704	ZBTB16	ORPHA:520
HP:0032309	Abnormal granulocyte count	79718	TBL1XR1	ORPHA:520
HP:0032309	Abnormal granulocyte count	10459	MAD2L2	OMIM:617243
HP:0032309	Abnormal granulocyte count	96459	FNIP1	OMIM:619705
HP:0032309	Abnormal granulocyte count	27429	HTRA2	OMIM:617248
HP:0032309	Abnormal granulocyte count	7319	UBE2A	ORPHA:163956
HP:0032309	Abnormal granulocyte count	55294	FBXW7	OMIM:620012
HP:0032309	Abnormal granulocyte count	5052	PRDX1	OMIM:277400
HP:0032309	Abnormal granulocyte count	10456	HAX1	OMIM:610738
HP:0032309	Abnormal granulocyte count	6929	TCF3	ORPHA:33110
HP:0032309	Abnormal granulocyte count	974	CD79B	ORPHA:33110
HP:0032309	Abnormal granulocyte count	3543	IGLL1	ORPHA:33110
HP:0032309	Abnormal granulocyte count	56262	LRRC8A	ORPHA:33110
HP:0032309	Abnormal granulocyte count	64682	ANAPC1	ORPHA:221008
HP:0032309	Abnormal granulocyte count	7454	WAS	OMIM:301000
HP:0032309	Abnormal granulocyte count	30009	TBX21	OMIM:619630
HP:0032309	Abnormal granulocyte count	5159	PDGFRB	OMIM:131440
HP:0032309	Abnormal granulocyte count	100151683	RNU4ATAC	ORPHA:353298
HP:0032309	Abnormal granulocyte count	100151683	RNU4ATAC	OMIM:616651
HP:0032309	Abnormal granulocyte count	5156	PDGFRA	OMIM:607685
HP:0032309	Abnormal granulocyte count	6023	RMRP	ORPHA:39041
HP:0032309	Abnormal granulocyte count	55636	CHD7	ORPHA:39041
HP:0032309	Abnormal granulocyte count	3981	LIG4	ORPHA:39041
HP:0032309	Abnormal granulocyte count	5897	RAG2	ORPHA:39041
HP:0032309	Abnormal granulocyte count	5897	RAG2	OMIM:603554
HP:0032309	Abnormal granulocyte count	5897	RAG2	ORPHA:331206
HP:0032309	Abnormal granulocyte count	64421	DCLRE1C	ORPHA:39041
HP:0032309	Abnormal granulocyte count	64421	DCLRE1C	OMIM:603554
HP:0032309	Abnormal granulocyte count	64421	DCLRE1C	OMIM:602450
HP:0032309	Abnormal granulocyte count	100	ADA	ORPHA:39041
HP:0032309	Abnormal granulocyte count	100	ADA	OMIM:102700
HP:0032309	Abnormal granulocyte count	3575	IL7R	ORPHA:39041
HP:0032309	Abnormal granulocyte count	3575	IL7R	ORPHA:169154
HP:0032309	Abnormal granulocyte count	3561	IL2RG	ORPHA:39041
HP:0032309	Abnormal granulocyte count	825	CAPN3	OMIM:253600
HP:0032309	Abnormal granulocyte count	113235	SLC46A1	ORPHA:90045
HP:0032309	Abnormal granulocyte count	1041	CDSN	OMIM:270300
HP:0032309	Abnormal granulocyte count	8517	IKBKG	ORPHA:464
HP:0032309	Abnormal granulocyte count	8517	IKBKG	OMIM:308300
HP:0032309	Abnormal granulocyte count	6720	SREBF1	OMIM:158310
HP:0032309	Abnormal granulocyte count	3716	JAK1	OMIM:618999
HP:0032309	Abnormal granulocyte count	114548	NLRP3	OMIM:607115
HP:0032309	Abnormal granulocyte count	84905	ZNF341	OMIM:618282
HP:0032309	Abnormal granulocyte count	915	CD3D	ORPHA:169160
HP:0032309	Abnormal granulocyte count	916	CD3E	ORPHA:169160
HP:0032309	Abnormal granulocyte count	919	CD247	ORPHA:169160
HP:0032309	Abnormal granulocyte count	919	CD247	OMIM:610163
HP:0032309	Abnormal granulocyte count	10999	SLC27A4	ORPHA:88621
HP:0032309	Abnormal granulocyte count	64919	BCL11B	OMIM:617237
HP:0032309	Abnormal granulocyte count	64919	BCL11B	OMIM:618092
HP:0032309	Abnormal granulocyte count	3572	IL6ST	OMIM:618523
HP:0032309	Abnormal granulocyte count	84433	CARD11	OMIM:617638
HP:0032309	Abnormal granulocyte count	9939	RBM8A	OMIM:274000
HP:0032309	Abnormal granulocyte count	10312	TCIRG1	ORPHA:486
HP:0032309	Abnormal granulocyte count	2672	GFI1	ORPHA:486
HP:0032309	Abnormal granulocyte count	81704	DOCK8	OMIM:243700
HP:0032309	Abnormal granulocyte count	7535	ZAP70	ORPHA:911
HP:0032309	Abnormal granulocyte count	56244	BTNL2	ORPHA:797
HP:0032309	Abnormal granulocyte count	3123	HLA-DRB1	ORPHA:797
HP:0032309	Abnormal granulocyte count	5896	RAG1	ORPHA:231154
HP:0032309	Abnormal granulocyte count	2215	FCGR3B	ORPHA:464370
HP:0032309	Abnormal granulocyte count	355	FAS	ORPHA:3261
HP:0032309	Abnormal granulocyte count	355	FAS	OMIM:601859
HP:0032309	Abnormal granulocyte count	356	FASLG	ORPHA:3261
HP:0032309	Abnormal granulocyte count	356	FASLG	OMIM:601859
HP:0032309	Abnormal granulocyte count	5580	PRKCD	ORPHA:3261
HP:0032309	Abnormal granulocyte count	843	CASP10	ORPHA:3261
HP:0032309	Abnormal granulocyte count	843	CASP10	OMIM:603909
HP:0032309	Abnormal granulocyte count	10125	RASGRP1	ORPHA:3261
HP:0032309	Abnormal granulocyte count	5994	RFXAP	ORPHA:572
HP:0032309	Abnormal granulocyte count	4261	CIITA	ORPHA:572
HP:0032309	Abnormal granulocyte count	5993	RFX5	ORPHA:572
HP:0032309	Abnormal granulocyte count	8625	RFXANK	ORPHA:572
HP:0032309	Abnormal granulocyte count	6772	STAT1	ORPHA:391487
HP:0032309	Abnormal granulocyte count	10043	TOM1	ORPHA:391487
HP:0032309	Abnormal granulocyte count	7174	TPP2	OMIM:619220
HP:0032309	Abnormal granulocyte count	6774	STAT3	OMIM:615952
HP:0032309	Abnormal granulocyte count	50943	FOXP3	ORPHA:37042
HP:0032309	Abnormal granulocyte count	4860	PNP	OMIM:613179
HP:0032309	Abnormal granulocyte count	5238	PGM3	ORPHA:443811
HP:0032309	Abnormal granulocyte count	5294	PIK3CG	OMIM:619802
HP:0032309	Abnormal granulocyte count	54440	SASH3	OMIM:301082
HP:0032309	Abnormal granulocyte count	83737	ITCH	ORPHA:228426
HP:0032309	Abnormal granulocyte count	29851	ICOS	OMIM:607594
HP:0032309	Abnormal granulocyte count	201294	UNC13D	OMIM:608898
HP:0032309	Abnormal granulocyte count	23451	SF3B1	ORPHA:75564
HP:0032309	Abnormal granulocyte count	6234	RPS28	OMIM:606164
HP:0032309	Abnormal granulocyte count	204	AK2	OMIM:267500
HP:0032309	Abnormal granulocyte count	90268	OTULIN	OMIM:617099
HP:0032309	Abnormal granulocyte count	3394	IRF8	OMIM:226990
HP:0032309	Abnormal granulocyte count	4598	MVK	OMIM:260920
HP:0032309	Abnormal granulocyte count	26525	IL36RN	OMIM:614204
HP:0032309	Abnormal granulocyte count	4210	MEFV	ORPHA:3243
HP:0032309	Abnormal granulocyte count	4210	MEFV	OMIM:249100
HP:0032309	Abnormal granulocyte count	1441	CSF3R	OMIM:162830
HP:0032309	Abnormal granulocyte count	55343	SLC35C1	OMIM:266265
HP:0032309	Abnormal granulocyte count	55343	SLC35C1	ORPHA:99843
HP:0032309	Abnormal granulocyte count	5293	PIK3CD	OMIM:619281
HP:0032309	Abnormal granulocyte count	57169	ZNFX1	OMIM:619644
HP:0032309	Abnormal granulocyte count	5971	RELB	OMIM:617585
HP:0032309	Abnormal granulocyte count	3557	IL1RN	OMIM:612852
HP:0032309	Abnormal granulocyte count	5880	RAC2	OMIM:608203
HP:0032309	Abnormal granulocyte count	7187	TRAF3	ORPHA:1930
HP:0032309	Abnormal granulocyte count	81622	UNC93B1	ORPHA:1930
HP:0032309	Abnormal granulocyte count	148022	TICAM1	ORPHA:1930
HP:0032309	Abnormal granulocyte count	7098	TLR3	ORPHA:1930
HP:0032309	Abnormal granulocyte count	29110	TBK1	ORPHA:1930
HP:0032309	Abnormal granulocyte count	1053	CEBPE	OMIM:245480
HP:0032309	Abnormal granulocyte count	2624	GATA2	ORPHA:3226
HP:0032309	Abnormal granulocyte count	51311	TLR8	OMIM:301078
HP:0032309	Abnormal granulocyte count	171023	ASXL1	ORPHA:98849
HP:0032309	Abnormal granulocyte count	54790	TET2	ORPHA:98849
HP:0032309	Abnormal granulocyte count	3815	KIT	ORPHA:98849
HP:0032309	Abnormal granulocyte count	6427	SRSF2	ORPHA:98849
HP:0032309	Abnormal granulocyte count	60468	BACH2	OMIM:618394
HP:0032309	Abnormal granulocyte count	84196	USP48	ORPHA:96253
HP:0032309	Abnormal granulocyte count	7157	TP53	ORPHA:96253
HP:0032309	Abnormal granulocyte count	9101	USP8	ORPHA:96253
HP:0032309	Abnormal granulocyte count	64072	CDH23	ORPHA:96253
HP:0032309	Abnormal granulocyte count	2908	NR3C1	ORPHA:96253
HP:0032309	Abnormal granulocyte count	673	BRAF	ORPHA:96253
HP:0032309	Abnormal granulocyte count	546	ATRX	ORPHA:96253
HP:0032309	Abnormal granulocyte count	29775	CARD10	OMIM:619632
HP:0032309	Abnormal granulocyte count	1991	ELANE	ORPHA:2686
HP:0032309	Abnormal granulocyte count	2137	EXTL3	ORPHA:508533
HP:0032309	Abnormal granulocyte count	11005	SPINK5	OMIM:256500
HP:0032309	Abnormal granulocyte count	64170	CARD9	OMIM:212050
HP:0032309	Abnormal granulocyte count	10526	IPO8	OMIM:619472
HP:0032309	Abnormal granulocyte count	28755	TRAC	OMIM:615387
HP:0032309	Abnormal granulocyte count	22861	NLRP1	OMIM:617388
HP:0032309	Abnormal granulocyte count	6901	TAFAZZIN	OMIM:302060
HP:0032309	Abnormal granulocyte count	3579	CXCR2	OMIM:619407
HP:0032309	Abnormal granulocyte count	987	LRBA	OMIM:614700
HP:0032309	Abnormal granulocyte count	51645	PPIL1	OMIM:619301
HP:0032309	Abnormal granulocyte count	51362	CDC40	OMIM:619302
HP:0032309	Abnormal granulocyte count	2542	SLC37A4	ORPHA:79259
HP:0032309	Abnormal granulocyte count	9158	FIBP	OMIM:617107
HP:0032309	Abnormal granulocyte count	9158	FIBP	ORPHA:500095
HP:0032309	Abnormal granulocyte count	6688	SPI1	OMIM:619707
HP:0032309	Abnormal granulocyte count	51135	IRAK4	OMIM:607676
HP:0032309	Abnormal granulocyte count	134218	DNAJC21	ORPHA:811
HP:0032309	Abnormal granulocyte count	79631	EFL1	ORPHA:811
HP:0032309	Abnormal granulocyte count	51119	SBDS	ORPHA:811
HP:0032309	Abnormal granulocyte count	6729	SRP54	ORPHA:811
HP:0032309	Abnormal granulocyte count	81570	CLPB	ORPHA:445038
HP:0006453	Lateral displacement of the femoral head	50485	SMARCAL1	OMIM:242900
HP:0006454	Delayed patellar ossification	1280	COL2A1	ORPHA:485
HP:0006454	Delayed patellar ossification	3835	KIF22	OMIM:603546
HP:0005011	Mesomelic arm shortening	4920	ROR2	OMIM:268310
HP:0005011	Mesomelic arm shortening	2316	FLNA	OMIM:300244
HP:0005011	Mesomelic arm shortening	9775	EIF4A3	OMIM:268305
HP:0005011	Mesomelic arm shortening	157570	ESCO2	ORPHA:3103
HP:0006456	Irregular proximal tibial epiphyses	1301	COL11A1	OMIM:154780
HP:0006459	Dorsal subluxation of ulna	6473	SHOX	ORPHA:240
HP:0006459	Dorsal subluxation of ulna	6473	SHOX	OMIM:127300
HP:0032311	Increased circulating globulin level	213	ALB	ORPHA:86816
HP:0032312	Decreased circulating globulin level	5054	SERPINE1	ORPHA:465
HP:0032312	Decreased circulating globulin level	5340	PLG	OMIM:217090
HP:0032312	Decreased circulating globulin level	5340	PLG	ORPHA:722
HP:0032313	Frontotemporal hypertrichosis	79796	ALG9	OMIM:263210
HP:0032314	Abnormal areolar morphology	7403	KDM6A	OMIM:300867
HP:0032314	Abnormal areolar morphology	79718	TBL1XR1	OMIM:602342
HP:0032314	Abnormal areolar morphology	5792	PTPRF	OMIM:616001
HP:0032315	Areolar fullness	7403	KDM6A	OMIM:300867
HP:0006460	Increased laxity of ankles	1311	COMP	ORPHA:750
HP:0006460	Increased laxity of ankles	29920	PYCR2	ORPHA:481152
HP:0006460	Increased laxity of ankles	1291	COL6A1	OMIM:254090
HP:0006460	Increased laxity of ankles	1292	COL6A2	OMIM:254090
HP:0006460	Increased laxity of ankles	1293	COL6A3	OMIM:254090
HP:0006460	Increased laxity of ankles	9927	MFN2	ORPHA:99947
HP:0006460	Increased laxity of ankles	2737	GLI3	ORPHA:93322
HP:0006461	Proximal femoral epiphysiolysis	89970	RSPRY1	ORPHA:457395
HP:0006461	Proximal femoral epiphysiolysis	89970	RSPRY1	OMIM:616723
HP:0006461	Proximal femoral epiphysiolysis	5979	RET	OMIM:162300
HP:0006461	Proximal femoral epiphysiolysis	2972	BRF1	OMIM:616202
HP:0006461	Proximal femoral epiphysiolysis	5116	PCNT	OMIM:210720
HP:0006461	Proximal femoral epiphysiolysis	51119	SBDS	OMIM:260400
HP:0006461	Proximal femoral epiphysiolysis	51119	SBDS	ORPHA:811
HP:0006461	Proximal femoral epiphysiolysis	134218	DNAJC21	OMIM:260400
HP:0006461	Proximal femoral epiphysiolysis	134218	DNAJC21	ORPHA:811
HP:0006461	Proximal femoral epiphysiolysis	6729	SRP54	OMIM:260400
HP:0006461	Proximal femoral epiphysiolysis	6729	SRP54	ORPHA:811
HP:0006461	Proximal femoral epiphysiolysis	79631	EFL1	ORPHA:811
HP:0006462	Generalized bone demineralization	9469	CHST3	OMIM:143095
HP:0006462	Generalized bone demineralization	65992	DDRGK1	ORPHA:93352
HP:0006463	Rickets of the lower limbs	2184	FAH	ORPHA:882
HP:0006463	Rickets of the lower limbs	1758	DMP1	ORPHA:289176
HP:0006463	Rickets of the lower limbs	5167	ENPP1	ORPHA:289176
HP:0006465	Periosteal thickening of long tubular bones	1277	COL1A1	ORPHA:1310
HP:0006465	Periosteal thickening of long tubular bones	1277	COL1A1	OMIM:114000
HP:0006465	Periosteal thickening of long tubular bones	6578	SLCO2A1	OMIM:167100
HP:0006467	Limited shoulder movement	1311	COMP	OMIM:177170
HP:0006467	Limited shoulder movement	79158	GNPTAB	ORPHA:576
HP:0006467	Limited shoulder movement	4000	LMNA	ORPHA:740
HP:0006467	Limited shoulder movement	10269	ZMPSTE24	ORPHA:740
HP:0006467	Limited shoulder movement	9401	RECQL4	OMIM:218600
HP:0006467	Limited shoulder movement	55906	ZC4H2	OMIM:301041
HP:0006467	Limited shoulder movement	6399	TRAPPC2	ORPHA:93284
HP:0006467	Limited shoulder movement	4625	MYH7	ORPHA:437572
HP:0006467	Limited shoulder movement	9427	ECEL1	OMIM:615065
HP:0006467	Limited shoulder movement	91461	PKDCC	OMIM:618821
HP:0006467	Limited shoulder movement	3081	HGD	OMIM:203500
HP:0006467	Limited shoulder movement	6442	SGCA	ORPHA:62
HP:0006467	Limited shoulder movement	10020	GNE	ORPHA:602
HP:0006467	Limited shoulder movement	2200	FBN1	OMIM:184900
HP:0004976	Knee dislocation	3187	HNRNPH1	OMIM:620083
HP:0004976	Knee dislocation	2317	FLNB	ORPHA:56305
HP:0004976	Knee dislocation	2317	FLNB	OMIM:150250
HP:0004976	Knee dislocation	2317	FLNB	OMIM:108721
HP:0004976	Knee dislocation	2317	FLNB	OMIM:108720
HP:0004976	Knee dislocation	9469	CHST3	OMIM:245600
HP:0004976	Knee dislocation	9469	CHST3	OMIM:143095
HP:0004976	Knee dislocation	26229	B3GAT3	OMIM:245600
HP:0004976	Knee dislocation	6261	RYR1	ORPHA:178145
HP:0004976	Knee dislocation	79989	IFT56	OMIM:619534
HP:0004976	Knee dislocation	54928	BPNT2	OMIM:614078
HP:0004976	Knee dislocation	23233	EXOC6B	OMIM:618395
HP:0004976	Knee dislocation	84068	SLC10A7	OMIM:618363
HP:0004976	Knee dislocation	165	AEBP1	OMIM:618000
HP:0004976	Knee dislocation	165	AEBP1	ORPHA:536532
HP:0004976	Knee dislocation	23443	SLC35A3	OMIM:615553
HP:0004976	Knee dislocation	23443	SLC35A3	ORPHA:370943
HP:0004976	Knee dislocation	64131	XYLT1	OMIM:615777
HP:0004976	Knee dislocation	347734	SLC35B2	OMIM:620269
HP:0004976	Knee dislocation	1277	COL1A1	OMIM:130060
HP:0004976	Knee dislocation	23345	SYNE1	ORPHA:319332
HP:0032323	Periodic fever	51095	TRNT1	OMIM:616084
HP:0032323	Periodic fever	1991	ELANE	ORPHA:2686
HP:0032323	Periodic fever	114548	NLRP3	OMIM:617772
HP:0032323	Periodic fever	144811	LACC1	OMIM:618795
HP:0032324	Non-periodic recurrent fever	4210	MEFV	ORPHA:3243
HP:0032325	Lacunar stroke	5654	HTRA1	OMIM:600142
HP:0032325	Lacunar stroke	5654	HTRA1	OMIM:616779
HP:0032325	Lacunar stroke	4854	NOTCH3	ORPHA:136
HP:0032325	Lacunar stroke	4854	NOTCH3	OMIM:125310
HP:0032325	Lacunar stroke	79709	COLGALT1	OMIM:618360
HP:0032325	Lacunar stroke	1282	COL4A1	OMIM:611773
HP:0032325	Lacunar stroke	4668	NAGA	OMIM:609242
HP:0032325	Lacunar stroke	5286	PIK3C2A	OMIM:618440
HP:0032326	Methicillin-resistant Staphylococcus aureus infection	84905	ZNF341	OMIM:618282
HP:0032327	Interhemispheric cyst	100151683	RNU4ATAC	OMIM:210710
HP:0032327	Interhemispheric cyst	3897	L1CAM	OMIM:304100
HP:0032327	Interhemispheric cyst	23007	PLCH1	OMIM:619895
HP:0032327	Interhemispheric cyst	4123	MAN2C1	OMIM:619775
HP:0032327	Interhemispheric cyst	1630	DCC	OMIM:617542
HP:0032327	Interhemispheric cyst	84823	LMNB2	OMIM:616540
HP:0032327	Interhemispheric cyst	1000	CDH2	OMIM:618929
HP:0006470	Thin long bone diaphyses	6678	SPARC	OMIM:616507
HP:0006470	Thin long bone diaphyses	6905	TBCE	ORPHA:93324
HP:0006470	Thin long bone diaphyses	11128	POLR3A	ORPHA:3455
HP:0006470	Thin long bone diaphyses	63901	FAM111A	ORPHA:93325
HP:0006471	Fixed elbow flexion	9469	CHST3	OMIM:143095
HP:0006471	Fixed elbow flexion	4010	LMX1B	ORPHA:495818
HP:0006471	Fixed elbow flexion	6812	STXBP1	ORPHA:495818
HP:0006471	Fixed elbow flexion	171023	ASXL1	ORPHA:97297
HP:0006473	Anterior bowing of long bones	3339	HSPG2	OMIM:255800
HP:0005033	Distal ulnar hypoplasia	91179	SCARF2	OMIM:600920
HP:0006476	Abnormality of the pancreatic islet cells	3930	LBR	OMIM:215140
HP:0006476	Abnormality of the pancreatic islet cells	6566	SLC16A1	OMIM:610021
HP:0006476	Abnormality of the pancreatic islet cells	129563	DIS3L2	OMIM:267000
HP:0006476	Abnormality of the pancreatic islet cells	3172	HNF4A	ORPHA:263455
HP:0006476	Abnormality of the pancreatic islet cells	2719	GPC3	OMIM:312870
HP:0006476	Abnormality of the pancreatic islet cells	2719	GPC3	ORPHA:373
HP:0006476	Abnormality of the pancreatic islet cells	2239	GPC4	OMIM:312870
HP:0006476	Abnormality of the pancreatic islet cells	2239	GPC4	ORPHA:373
HP:0006476	Abnormality of the pancreatic islet cells	2184	FAH	OMIM:276700
HP:0006476	Abnormality of the pancreatic islet cells	6833	ABCC8	OMIM:256450
HP:0006476	Abnormality of the pancreatic islet cells	3643	INSR	OMIM:246200
HP:0006476	Abnormality of the pancreatic islet cells	6774	STAT3	ORPHA:99885
HP:0006476	Abnormality of the pancreatic islet cells	2645	GCK	ORPHA:99885
HP:0006476	Abnormality of the pancreatic islet cells	3651	PDX1	ORPHA:99885
HP:0006476	Abnormality of the pancreatic islet cells	3630	INS	ORPHA:99885
HP:0006476	Abnormality of the pancreatic islet cells	9451	EIF2AK3	OMIM:226980
HP:0006476	Abnormality of the pancreatic islet cells	5078	PAX4	OMIM:612227
HP:0006476	Abnormality of the pancreatic islet cells	7528	YY1	ORPHA:97279
HP:0006476	Abnormality of the pancreatic islet cells	2746	GLUD1	OMIM:606762
HP:0006476	Abnormality of the pancreatic islet cells	389692	MAFA	OMIM:147630
HP:0006476	Abnormality of the pancreatic islet cells	3767	KCNJ11	ORPHA:79644
HP:0006476	Abnormality of the pancreatic islet cells	7428	VHL	ORPHA:892
HP:0006476	Abnormality of the pancreatic islet cells	595	CCND1	ORPHA:892
HP:0006476	Abnormality of the pancreatic islet cells	4221	MEN1	OMIM:131100
HP:0006476	Abnormality of the pancreatic islet cells	1027	CDKN1B	ORPHA:652
HP:0006476	Abnormality of the pancreatic islet cells	1027	CDKN1B	ORPHA:276152
HP:0006476	Abnormality of the pancreatic islet cells	1026	CDKN1A	ORPHA:652
HP:0006476	Abnormality of the pancreatic islet cells	1030	CDKN2B	ORPHA:652
HP:0006476	Abnormality of the pancreatic islet cells	1031	CDKN2C	ORPHA:652
HP:0006476	Abnormality of the pancreatic islet cells	7351	UCP2	ORPHA:276556
HP:0006476	Abnormality of the pancreatic islet cells	2642	GCGR	OMIM:619290
HP:0006477	Abnormality of the alveolar ridges	9896	FIG4	OMIM:216340
HP:0006477	Abnormality of the alveolar ridges	1717	DHCR7	OMIM:270400
HP:0006477	Abnormality of the alveolar ridges	2697	GJA1	OMIM:218400
HP:0006477	Abnormality of the alveolar ridges	2697	GJA1	OMIM:164200
HP:0006477	Abnormality of the alveolar ridges	2697	GJA1	ORPHA:2710
HP:0006477	Abnormality of the alveolar ridges	171023	ASXL1	OMIM:605039
HP:0006477	Abnormality of the alveolar ridges	285590	SH3PXD2B	OMIM:249420
HP:0006477	Abnormality of the alveolar ridges	170302	ARX	OMIM:300004
HP:0006477	Abnormality of the alveolar ridges	55906	ZC4H2	OMIM:314580
HP:0006477	Abnormality of the alveolar ridges	473	RERE	OMIM:616975
HP:0006477	Abnormality of the alveolar ridges	129563	DIS3L2	ORPHA:2849
HP:0006477	Abnormality of the alveolar ridges	8481	OFD1	ORPHA:2750
HP:0006477	Abnormality of the alveolar ridges	2799	GNS	OMIM:252940
HP:0006477	Abnormality of the alveolar ridges	26040	SETBP1	ORPHA:798
HP:0006477	Abnormality of the alveolar ridges	526	ATP6V1B2	ORPHA:79500
HP:0006477	Abnormality of the alveolar ridges	57465	TBC1D24	ORPHA:79500
HP:0006477	Abnormality of the alveolar ridges	55697	VAC14	ORPHA:3472
HP:0006477	Abnormality of the alveolar ridges	1130	LYST	ORPHA:167
HP:0006477	Abnormality of the alveolar ridges	716	C1S	ORPHA:75392
HP:0006477	Abnormality of the alveolar ridges	715	C1R	ORPHA:75392
HP:0006477	Abnormality of the alveolar ridges	1991	ELANE	ORPHA:2686
HP:0006477	Abnormality of the alveolar ridges	1075	CTSC	OMIM:245000
HP:0006477	Abnormality of the alveolar ridges	1075	CTSC	ORPHA:678
HP:0006477	Abnormality of the alveolar ridges	374654	KIF7	OMIM:200990
HP:0006477	Abnormality of the alveolar ridges	2121	EVC	OMIM:225500
HP:0006477	Abnormality of the alveolar ridges	132884	EVC2	OMIM:225500
HP:0006477	Abnormality of the alveolar ridges	9851	KIAA0753	OMIM:617127
HP:0006477	Abnormality of the alveolar ridges	9851	KIAA0753	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	10210	TOPORS	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	26123	TCTN3	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	5147	PDE6D	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	65250	CPLANE1	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	51259	TMEM216	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	317662	FAM149B1	ORPHA:2754
HP:0006477	Abnormality of the alveolar ridges	1718	DHCR24	OMIM:602398
HP:0006477	Abnormality of the alveolar ridges	4914	NTRK1	ORPHA:642
HP:0006477	Abnormality of the alveolar ridges	51611	DPH5	OMIM:620070
HP:0006477	Abnormality of the alveolar ridges	2972	BRF1	ORPHA:444072
HP:0006477	Abnormality of the alveolar ridges	6452	SH3BP2	OMIM:118400
HP:0006477	Abnormality of the alveolar ridges	6913	TBX15	OMIM:260660
HP:0006477	Abnormality of the alveolar ridges	10785	WDR4	OMIM:618346
HP:0006477	Abnormality of the alveolar ridges	6638	SNRPN	ORPHA:177907
HP:0006477	Abnormality of the alveolar ridges	5277	PIGA	OMIM:301072
HP:0006477	Abnormality of the alveolar ridges	8241	RBM10	ORPHA:2886
HP:0006477	Abnormality of the alveolar ridges	79068	FTO	OMIM:612938
HP:0006477	Abnormality of the alveolar ridges	79158	GNPTAB	OMIM:252500
HP:0006477	Abnormality of the alveolar ridges	10225	CD96	OMIM:211750
HP:0006477	Abnormality of the alveolar ridges	3664	IRF6	ORPHA:1300
HP:0006477	Abnormality of the alveolar ridges	3664	IRF6	OMIM:119500
HP:0006479	Abnormal dental pulp morphology	1896	EDA	OMIM:305100
HP:0006479	Abnormal dental pulp morphology	1896	EDA	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	64388	GREM2	OMIM:617275
HP:0006479	Abnormal dental pulp morphology	10117	ENAM	OMIM:204650
HP:0006479	Abnormal dental pulp morphology	2972	BRF1	OMIM:616202
HP:0006479	Abnormal dental pulp morphology	2972	BRF1	ORPHA:444072
HP:0006479	Abnormal dental pulp morphology	1107	CHD3	OMIM:618205
HP:0006479	Abnormal dental pulp morphology	4040	LRP6	OMIM:616724
HP:0006479	Abnormal dental pulp morphology	4040	LRP6	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	5189	PEX1	ORPHA:3220
HP:0006479	Abnormal dental pulp morphology	5190	PEX6	ORPHA:3220
HP:0006479	Abnormal dental pulp morphology	8626	TP63	OMIM:129400
HP:0006479	Abnormal dental pulp morphology	8626	TP63	ORPHA:1896
HP:0006479	Abnormal dental pulp morphology	4750	NEK1	ORPHA:2751
HP:0006479	Abnormal dental pulp morphology	2260	FGFR1	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	4487	MSX1	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	128178	EDARADD	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	5083	PAX9	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	7341	SUMO1	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	80326	WNT10A	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	8313	AXIN2	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	3664	IRF6	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	7039	TGFA	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	7480	WNT10B	ORPHA:99798
HP:0006479	Abnormal dental pulp morphology	2697	GJA1	ORPHA:2710
HP:0006479	Abnormal dental pulp morphology	2697	GJA1	OMIM:164200
HP:0006479	Abnormal dental pulp morphology	1747	DLX3	OMIM:190320
HP:0006479	Abnormal dental pulp morphology	1747	DLX3	ORPHA:3352
HP:0006479	Abnormal dental pulp morphology	1747	DLX3	OMIM:104510
HP:0006479	Abnormal dental pulp morphology	57728	WDR19	OMIM:614378
HP:0006479	Abnormal dental pulp morphology	57728	WDR19	ORPHA:1515
HP:0006479	Abnormal dental pulp morphology	80169	CTC1	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	26277	TINF2	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	55651	NHP2	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	79650	USB1	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	55135	WRAP53	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	51750	RTEL1	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	4869	NPM1	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	7012	TERC	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	55505	NOP10	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	5073	PARN	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	7015	TERT	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	1736	DKC1	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	7298	TYMS	ORPHA:1775
HP:0006479	Abnormal dental pulp morphology	2314	FLII	ORPHA:819
HP:0006479	Abnormal dental pulp morphology	23096	IQSEC2	ORPHA:819
HP:0006479	Abnormal dental pulp morphology	10743	RAI1	ORPHA:819
HP:0006479	Abnormal dental pulp morphology	10522	DEAF1	ORPHA:819
HP:0006479	Abnormal dental pulp morphology	3914	LAMB3	OMIM:104530
HP:0006479	Abnormal dental pulp morphology	57539	WDR35	ORPHA:1515
HP:0006479	Abnormal dental pulp morphology	112752	IFT43	ORPHA:1515
HP:0006479	Abnormal dental pulp morphology	51098	IFT52	ORPHA:1515
HP:0006479	Abnormal dental pulp morphology	55764	IFT122	ORPHA:1515
HP:0006479	Abnormal dental pulp morphology	4952	OCRL	ORPHA:534
HP:0006479	Abnormal dental pulp morphology	1277	COL1A1	ORPHA:287
HP:0006479	Abnormal dental pulp morphology	1289	COL5A1	ORPHA:287
HP:0006479	Abnormal dental pulp morphology	1290	COL5A2	ORPHA:287
HP:0006479	Abnormal dental pulp morphology	2591	GALNT3	OMIM:211900
HP:0006479	Abnormal dental pulp morphology	2248	FGF3	ORPHA:2791
HP:0006479	Abnormal dental pulp morphology	54757	FAM20A	OMIM:204690
HP:0006479	Abnormal dental pulp morphology	64094	SMOC2	OMIM:125400
HP:0006479	Abnormal dental pulp morphology	4763	NF1	ORPHA:363700
HP:0006479	Abnormal dental pulp morphology	1834	DSPP	OMIM:125420
HP:0032330	Increased urinary 11-deoxycorticosterone level	1586	CYP17A1	ORPHA:90793
HP:0032330	Increased urinary 11-deoxycorticosterone level	1584	CYP11B1	ORPHA:90795
HP:0006481	Abnormality of primary teeth	2074	ERCC6	OMIM:133540
HP:0006481	Abnormality of primary teeth	2074	ERCC6	ORPHA:90321
HP:0006481	Abnormality of primary teeth	2074	ERCC6	ORPHA:90322
HP:0006481	Abnormality of primary teeth	1513	CTSK	ORPHA:763
HP:0006481	Abnormality of primary teeth	1513	CTSK	OMIM:265800
HP:0006481	Abnormality of primary teeth	860	RUNX2	OMIM:119600
HP:0006481	Abnormality of primary teeth	221496	LEMD2	OMIM:619322
HP:0006481	Abnormality of primary teeth	54539	NDUFB11	OMIM:300952
HP:0006481	Abnormality of primary teeth	816	CAMK2B	OMIM:617799
HP:0006481	Abnormality of primary teeth	1909	EDNRA	OMIM:616367
HP:0006481	Abnormality of primary teeth	2263	FGFR2	OMIM:149730
HP:0006481	Abnormality of primary teeth	2314	FLII	ORPHA:819
HP:0006481	Abnormality of primary teeth	23096	IQSEC2	ORPHA:819
HP:0006481	Abnormality of primary teeth	10743	RAI1	ORPHA:819
HP:0006481	Abnormality of primary teeth	10522	DEAF1	ORPHA:819
HP:0006481	Abnormality of primary teeth	1161	ERCC8	OMIM:216400
HP:0006481	Abnormality of primary teeth	1161	ERCC8	ORPHA:90321
HP:0006481	Abnormality of primary teeth	1161	ERCC8	ORPHA:90322
HP:0006481	Abnormality of primary teeth	865	CBFB	OMIM:620099
HP:0006481	Abnormality of primary teeth	2072	ERCC4	ORPHA:90321
HP:0006481	Abnormality of primary teeth	2067	ERCC1	ORPHA:90322
HP:0006481	Abnormality of primary teeth	7737	RNF113A	OMIM:300953
HP:0006481	Abnormality of primary teeth	9896	FIG4	OMIM:216340
HP:0006481	Abnormality of primary teeth	9896	FIG4	ORPHA:3472
HP:0006481	Abnormality of primary teeth	7421	VDR	ORPHA:93160
HP:0006481	Abnormality of primary teeth	1281	COL3A1	ORPHA:286
HP:0006481	Abnormality of primary teeth	716	C1S	ORPHA:75392
HP:0006481	Abnormality of primary teeth	715	C1R	ORPHA:75392
HP:0006481	Abnormality of primary teeth	55697	VAC14	ORPHA:3472
HP:0006481	Abnormality of primary teeth	55612	FERMT1	ORPHA:2908
HP:0006481	Abnormality of primary teeth	249	ALPL	OMIM:241510
HP:0006481	Abnormality of primary teeth	249	ALPL	OMIM:146300
HP:0006481	Abnormality of primary teeth	5587	PRKD1	OMIM:617364
HP:0006481	Abnormality of primary teeth	10913	EDAR	ORPHA:248
HP:0006481	Abnormality of primary teeth	10913	EDAR	ORPHA:1810
HP:0006481	Abnormality of primary teeth	1476	CSTB	ORPHA:248
HP:0006481	Abnormality of primary teeth	7189	TRAF6	ORPHA:1810
HP:0006481	Abnormality of primary teeth	126695	KDF1	ORPHA:1810
HP:0006481	Abnormality of primary teeth	2697	GJA1	ORPHA:2710
HP:0006481	Abnormality of primary teeth	10312	TCIRG1	ORPHA:667
HP:0006481	Abnormality of primary teeth	1186	CLCN7	ORPHA:667
HP:0006481	Abnormality of primary teeth	29887	SNX10	ORPHA:667
HP:0006481	Abnormality of primary teeth	8600	TNFSF11	ORPHA:667
HP:0006481	Abnormality of primary teeth	1075	CTSC	ORPHA:678
HP:0006481	Abnormality of primary teeth	7703	PCGF2	OMIM:618371
HP:0006481	Abnormality of primary teeth	197131	UBR1	OMIM:243800
HP:0006481	Abnormality of primary teeth	2316	FLNA	OMIM:305620
HP:0006481	Abnormality of primary teeth	3572	IL6ST	OMIM:619752
HP:0006481	Abnormality of primary teeth	6424	SFRP4	OMIM:265900
HP:0006481	Abnormality of primary teeth	54517	PUS7	OMIM:618342
HP:0006481	Abnormality of primary teeth	7021	TFAP2B	ORPHA:46627
HP:0006481	Abnormality of primary teeth	387	RHOA	OMIM:618727
HP:0006481	Abnormality of primary teeth	3759	KCNJ2	OMIM:170390
HP:0006481	Abnormality of primary teeth	3759	KCNJ2	ORPHA:37553
HP:0006481	Abnormality of primary teeth	7474	WNT5A	OMIM:180700
HP:0006481	Abnormality of primary teeth	1855	DVL1	OMIM:180700
HP:0006481	Abnormality of primary teeth	5745	PTH1R	OMIM:600002
HP:0006481	Abnormality of primary teeth	5745	PTH1R	OMIM:125350
HP:0006481	Abnormality of primary teeth	4000	LMNA	ORPHA:740
HP:0006481	Abnormality of primary teeth	10269	ZMPSTE24	ORPHA:740
HP:0006481	Abnormality of primary teeth	54880	BCOR	OMIM:300166
HP:0006481	Abnormality of primary teeth	6774	STAT3	OMIM:147060
HP:0006481	Abnormality of primary teeth	374654	KIF7	OMIM:200990
HP:0006481	Abnormality of primary teeth	51715	RAB23	OMIM:201000
HP:0006481	Abnormality of primary teeth	79813	EHMT1	OMIM:610253
HP:0006481	Abnormality of primary teeth	10847	SRCAP	ORPHA:2044
HP:0006481	Abnormality of primary teeth	51341	ZBTB7A	OMIM:619769
HP:0006481	Abnormality of primary teeth	63901	FAM111A	ORPHA:93325
HP:0006481	Abnormality of primary teeth	760	CA2	ORPHA:2785
HP:0006481	Abnormality of primary teeth	3762	KCNJ5	ORPHA:37553
HP:0006481	Abnormality of primary teeth	50485	SMARCAL1	ORPHA:1830
HP:0006481	Abnormality of primary teeth	2260	FGFR1	ORPHA:99798
HP:0006481	Abnormality of primary teeth	4487	MSX1	ORPHA:99798
HP:0006481	Abnormality of primary teeth	128178	EDARADD	ORPHA:99798
HP:0006481	Abnormality of primary teeth	5083	PAX9	ORPHA:99798
HP:0006481	Abnormality of primary teeth	7341	SUMO1	ORPHA:99798
HP:0006481	Abnormality of primary teeth	1896	EDA	ORPHA:99798
HP:0006481	Abnormality of primary teeth	8313	AXIN2	ORPHA:99798
HP:0006481	Abnormality of primary teeth	3664	IRF6	ORPHA:99798
HP:0006481	Abnormality of primary teeth	4040	LRP6	ORPHA:99798
HP:0006481	Abnormality of primary teeth	7039	TGFA	ORPHA:99798
HP:0006481	Abnormality of primary teeth	7480	WNT10B	ORPHA:99798
HP:0006481	Abnormality of primary teeth	6638	SNRPN	ORPHA:177907
HP:0006481	Abnormality of primary teeth	54499	TMCO1	OMIM:213980
HP:0006481	Abnormality of primary teeth	11285	B4GALT7	ORPHA:75496
HP:0006481	Abnormality of primary teeth	3190	HNRNPK	ORPHA:453504
HP:0006481	Abnormality of primary teeth	3190	HNRNPK	ORPHA:352665
HP:0006481	Abnormality of primary teeth	5813	PURA	ORPHA:438216
HP:0006481	Abnormality of primary teeth	80326	WNT10A	OMIM:257980
HP:0006481	Abnormality of primary teeth	80326	WNT10A	OMIM:150400
HP:0006482	Abnormality of dental morphology	1301	COL11A1	OMIM:154780
HP:0006482	Abnormality of dental morphology	8911	CACNA1I	OMIM:620114
HP:0006482	Abnormality of dental morphology	10664	CTCF	ORPHA:363611
HP:0006482	Abnormality of dental morphology	10667	FARS2	ORPHA:466722
HP:0006482	Abnormality of dental morphology	3778	KCNMA1	OMIM:618729
HP:0006482	Abnormality of dental morphology	2892	GRIA3	ORPHA:364028
HP:0006482	Abnormality of dental morphology	526	ATP6V1B2	ORPHA:79500
HP:0006482	Abnormality of dental morphology	57465	TBC1D24	ORPHA:79500
HP:0006482	Abnormality of dental morphology	23241	PACS2	OMIM:618067
HP:0006482	Abnormality of dental morphology	1896	EDA	OMIM:305100
HP:0006482	Abnormality of dental morphology	1896	EDA	ORPHA:99798
HP:0006482	Abnormality of dental morphology	64388	GREM2	OMIM:617275
HP:0006482	Abnormality of dental morphology	10117	ENAM	OMIM:204650
HP:0006482	Abnormality of dental morphology	2972	BRF1	OMIM:616202
HP:0006482	Abnormality of dental morphology	2972	BRF1	ORPHA:444072
HP:0006482	Abnormality of dental morphology	2591	GALNT3	OMIM:211900
HP:0006482	Abnormality of dental morphology	1107	CHD3	OMIM:618205
HP:0006482	Abnormality of dental morphology	4040	LRP6	OMIM:616724
HP:0006482	Abnormality of dental morphology	4040	LRP6	ORPHA:99798
HP:0006482	Abnormality of dental morphology	2248	FGF3	ORPHA:2791
HP:0006482	Abnormality of dental morphology	5189	PEX1	ORPHA:3220
HP:0006482	Abnormality of dental morphology	5190	PEX6	ORPHA:3220
HP:0006482	Abnormality of dental morphology	4750	NEK1	ORPHA:2751
HP:0006482	Abnormality of dental morphology	2260	FGFR1	ORPHA:99798
HP:0006482	Abnormality of dental morphology	128178	EDARADD	ORPHA:99798
HP:0006482	Abnormality of dental morphology	5083	PAX9	ORPHA:99798
HP:0006482	Abnormality of dental morphology	7341	SUMO1	ORPHA:99798
HP:0006482	Abnormality of dental morphology	8313	AXIN2	ORPHA:99798
HP:0006482	Abnormality of dental morphology	7039	TGFA	ORPHA:99798
HP:0006482	Abnormality of dental morphology	7480	WNT10B	ORPHA:99798
HP:0006482	Abnormality of dental morphology	2697	GJA1	ORPHA:2710
HP:0006482	Abnormality of dental morphology	2697	GJA1	OMIM:164200
HP:0006482	Abnormality of dental morphology	64094	SMOC2	OMIM:125400
HP:0006482	Abnormality of dental morphology	1747	DLX3	OMIM:190320
HP:0006482	Abnormality of dental morphology	1747	DLX3	ORPHA:3352
HP:0006482	Abnormality of dental morphology	1747	DLX3	OMIM:104510
HP:0006482	Abnormality of dental morphology	57728	WDR19	OMIM:614378
HP:0006482	Abnormality of dental morphology	57728	WDR19	ORPHA:1515
HP:0006482	Abnormality of dental morphology	80169	CTC1	ORPHA:1775
HP:0006482	Abnormality of dental morphology	26277	TINF2	ORPHA:1775
HP:0006482	Abnormality of dental morphology	55651	NHP2	ORPHA:1775
HP:0006482	Abnormality of dental morphology	79650	USB1	ORPHA:1775
HP:0006482	Abnormality of dental morphology	55135	WRAP53	ORPHA:1775
HP:0006482	Abnormality of dental morphology	51750	RTEL1	ORPHA:1775
HP:0006482	Abnormality of dental morphology	4869	NPM1	ORPHA:1775
HP:0006482	Abnormality of dental morphology	7012	TERC	ORPHA:1775
HP:0006482	Abnormality of dental morphology	55505	NOP10	ORPHA:1775
HP:0006482	Abnormality of dental morphology	5073	PARN	ORPHA:1775
HP:0006482	Abnormality of dental morphology	7015	TERT	ORPHA:1775
HP:0006482	Abnormality of dental morphology	1736	DKC1	ORPHA:1775
HP:0006482	Abnormality of dental morphology	7298	TYMS	ORPHA:1775
HP:0006482	Abnormality of dental morphology	2314	FLII	ORPHA:819
HP:0006482	Abnormality of dental morphology	23096	IQSEC2	ORPHA:819
HP:0006482	Abnormality of dental morphology	10743	RAI1	ORPHA:819
HP:0006482	Abnormality of dental morphology	10522	DEAF1	ORPHA:819
HP:0006482	Abnormality of dental morphology	3914	LAMB3	OMIM:104530
HP:0006482	Abnormality of dental morphology	57539	WDR35	ORPHA:1515
HP:0006482	Abnormality of dental morphology	112752	IFT43	ORPHA:1515
HP:0006482	Abnormality of dental morphology	51098	IFT52	ORPHA:1515
HP:0006482	Abnormality of dental morphology	55764	IFT122	ORPHA:1515
HP:0006482	Abnormality of dental morphology	4952	OCRL	ORPHA:534
HP:0006482	Abnormality of dental morphology	8367	H4C5	OMIM:619950
HP:0006482	Abnormality of dental morphology	2138	EYA1	OMIM:113650
HP:0006482	Abnormality of dental morphology	6495	SIX1	OMIM:113650
HP:0006482	Abnormality of dental morphology	22856	CHSY1	ORPHA:363417
HP:0006482	Abnormality of dental morphology	22856	CHSY1	OMIM:605282
HP:0006482	Abnormality of dental morphology	23394	ADNP	OMIM:615873
HP:0006482	Abnormality of dental morphology	6938	TCF12	OMIM:619718
HP:0006482	Abnormality of dental morphology	23314	SATB2	ORPHA:251028
HP:0006482	Abnormality of dental morphology	10785	WDR4	OMIM:618347
HP:0006482	Abnormality of dental morphology	5361	PLXNA1	OMIM:619955
HP:0006482	Abnormality of dental morphology	9401	RECQL4	OMIM:268400
HP:0006482	Abnormality of dental morphology	9401	RECQL4	ORPHA:221016
HP:0006482	Abnormality of dental morphology	5308	PITX2	ORPHA:782
HP:0006482	Abnormality of dental morphology	5308	PITX2	OMIM:180500
HP:0006482	Abnormality of dental morphology	2296	FOXC1	ORPHA:782
HP:0006482	Abnormality of dental morphology	2296	FOXC1	OMIM:602482
HP:0006482	Abnormality of dental morphology	4054	LTBP3	OMIM:601216
HP:0006482	Abnormality of dental morphology	5932	RBBP8	OMIM:606744
HP:0006482	Abnormality of dental morphology	10847	SRCAP	OMIM:136140
HP:0006482	Abnormality of dental morphology	10847	SRCAP	ORPHA:2044
HP:0006482	Abnormality of dental morphology	8085	KMT2D	ORPHA:2322
HP:0006482	Abnormality of dental morphology	7403	KDM6A	ORPHA:2322
HP:0006482	Abnormality of dental morphology	6595	SMARCA2	ORPHA:2728
HP:0006482	Abnormality of dental morphology	6595	SMARCA2	OMIM:619293
HP:0006482	Abnormality of dental morphology	10982	MAPRE2	OMIM:616734
HP:0006482	Abnormality of dental morphology	9126	SMC3	OMIM:610759
HP:0006482	Abnormality of dental morphology	56975	FAM20C	OMIM:259775
HP:0006482	Abnormality of dental morphology	5980	REV3L	ORPHA:570
HP:0006482	Abnormality of dental morphology	23129	PLXND1	ORPHA:570
HP:0006482	Abnormality of dental morphology	4784	NFIX	OMIM:602535
HP:0006482	Abnormality of dental morphology	716	C1S	ORPHA:75392
HP:0006482	Abnormality of dental morphology	715	C1R	ORPHA:75392
HP:0006482	Abnormality of dental morphology	57492	ARID1B	OMIM:135900
HP:0006482	Abnormality of dental morphology	10484	SEC23A	ORPHA:50814
HP:0006482	Abnormality of dental morphology	4998	ORC1	OMIM:224690
HP:0006482	Abnormality of dental morphology	92255	LMBRD2	OMIM:619694
HP:0006482	Abnormality of dental morphology	9469	CHST3	OMIM:143095
HP:0006482	Abnormality of dental morphology	9469	CHST3	OMIM:245600
HP:0006482	Abnormality of dental morphology	1009	CDH11	OMIM:619736
HP:0006482	Abnormality of dental morphology	197131	UBR1	ORPHA:2315
HP:0006482	Abnormality of dental morphology	7703	PCGF2	OMIM:618371
HP:0006482	Abnormality of dental morphology	1281	COL3A1	ORPHA:286
HP:0006482	Abnormality of dental morphology	64919	BCL11B	OMIM:618092
HP:0006482	Abnormality of dental morphology	23522	KAT6B	OMIM:603736
HP:0006482	Abnormality of dental morphology	5277	PIGA	OMIM:300868
HP:0006482	Abnormality of dental morphology	5277	PIGA	OMIM:301072
HP:0006482	Abnormality of dental morphology	6023	RMRP	OMIM:607095
HP:0006482	Abnormality of dental morphology	7020	TFAP2A	ORPHA:1297
HP:0006482	Abnormality of dental morphology	5116	PCNT	OMIM:210720
HP:0006482	Abnormality of dental morphology	5116	PCNT	ORPHA:2637
HP:0006482	Abnormality of dental morphology	89910	UBE3B	ORPHA:2707
HP:0006482	Abnormality of dental morphology	3425	IDUA	OMIM:607014
HP:0006482	Abnormality of dental morphology	9487	PIGL	ORPHA:3474
HP:0006482	Abnormality of dental morphology	9653	HS2ST1	OMIM:619194
HP:0006482	Abnormality of dental morphology	7399	USH2A	ORPHA:231178
HP:0006482	Abnormality of dental morphology	79955	PDZD7	ORPHA:231178
HP:0006482	Abnormality of dental morphology	4647	MYO7A	ORPHA:231178
HP:0006482	Abnormality of dental morphology	25861	WHRN	ORPHA:231178
HP:0006482	Abnormality of dental morphology	84059	ADGRV1	ORPHA:231178
HP:0006482	Abnormality of dental morphology	5281	PIGF	OMIM:619356
HP:0006482	Abnormality of dental morphology	57003	CCDC47	OMIM:618268
HP:0006482	Abnormality of dental morphology	5034	P4HB	OMIM:112240
HP:0006482	Abnormality of dental morphology	134218	DNAJC21	OMIM:617052
HP:0006482	Abnormality of dental morphology	9851	KIAA0753	OMIM:619479
HP:0006482	Abnormality of dental morphology	5977	DPF2	OMIM:618027
HP:0006482	Abnormality of dental morphology	1001	CDH3	OMIM:225280
HP:0006482	Abnormality of dental morphology	1001	CDH3	ORPHA:1897
HP:0006482	Abnormality of dental morphology	29957	SLC25A24	OMIM:612289
HP:0006482	Abnormality of dental morphology	6804	STX1A	ORPHA:904
HP:0006482	Abnormality of dental morphology	7461	CLIP2	ORPHA:904
HP:0006482	Abnormality of dental morphology	84277	DNAJC30	ORPHA:904
HP:0006482	Abnormality of dental morphology	8468	FKBP6	ORPHA:904
HP:0006482	Abnormality of dental morphology	5982	RFC2	ORPHA:904
HP:0006482	Abnormality of dental morphology	2969	GTF2I	ORPHA:904
HP:0006482	Abnormality of dental morphology	3984	LIMK1	ORPHA:904
HP:0006482	Abnormality of dental morphology	9569	GTF2IRD1	ORPHA:904
HP:0006482	Abnormality of dental morphology	155382	VPS37D	ORPHA:904
HP:0006482	Abnormality of dental morphology	155368	METTL27	ORPHA:904
HP:0006482	Abnormality of dental morphology	114049	BUD23	ORPHA:904
HP:0006482	Abnormality of dental morphology	7458	EIF4H	ORPHA:904
HP:0006482	Abnormality of dental morphology	84163	GTF2IRD2	ORPHA:904
HP:0006482	Abnormality of dental morphology	9275	BCL7B	ORPHA:904
HP:0006482	Abnormality of dental morphology	26608	TBL2	ORPHA:904
HP:0006482	Abnormality of dental morphology	653361	NCF1	ORPHA:904
HP:0006482	Abnormality of dental morphology	135886	TMEM270	ORPHA:904
HP:0006482	Abnormality of dental morphology	51085	MLXIPL	ORPHA:904
HP:0006482	Abnormality of dental morphology	51085	MLXIPL	OMIM:194050
HP:0006482	Abnormality of dental morphology	9031	BAZ1B	ORPHA:904
HP:0006482	Abnormality of dental morphology	2006	ELN	ORPHA:904
HP:0006482	Abnormality of dental morphology	2006	ELN	OMIM:194050
HP:0006482	Abnormality of dental morphology	79005	SCNM1	OMIM:620107
HP:0006482	Abnormality of dental morphology	150468	CKAP2L	OMIM:272440
HP:0006482	Abnormality of dental morphology	4796	TONSL	ORPHA:93357
HP:0006482	Abnormality of dental morphology	10913	EDAR	OMIM:129490
HP:0006482	Abnormality of dental morphology	10913	EDAR	OMIM:224900
HP:0006482	Abnormality of dental morphology	2887	GRB10	ORPHA:96182
HP:0006482	Abnormality of dental morphology	2261	FGFR3	OMIM:620192
HP:0006482	Abnormality of dental morphology	2261	FGFR3	ORPHA:2363
HP:0006482	Abnormality of dental morphology	60401	EDA2R	ORPHA:181
HP:0006482	Abnormality of dental morphology	5594	MAPK1	OMIM:619087
HP:0006482	Abnormality of dental morphology	50485	SMARCAL1	ORPHA:1830
HP:0006482	Abnormality of dental morphology	50485	SMARCAL1	OMIM:242900
HP:0006482	Abnormality of dental morphology	2255	FGF10	ORPHA:2363
HP:0006482	Abnormality of dental morphology	57192	MCOLN1	ORPHA:578
HP:0006482	Abnormality of dental morphology	126792	B3GALT6	ORPHA:536467
HP:0006482	Abnormality of dental morphology	5295	PIK3R1	ORPHA:3163
HP:0006482	Abnormality of dental morphology	775	CACNA1C	OMIM:601005
HP:0006482	Abnormality of dental morphology	9968	MED12	OMIM:300895
HP:0006482	Abnormality of dental morphology	387	RHOA	OMIM:618727
HP:0006482	Abnormality of dental morphology	23219	FBXO28	OMIM:619777
HP:0006482	Abnormality of dental morphology	5557	PRIM1	OMIM:620005
HP:0006482	Abnormality of dental morphology	5286	PIK3C2A	ORPHA:557003
HP:0006482	Abnormality of dental morphology	117581	TWIST2	ORPHA:920
HP:0006482	Abnormality of dental morphology	26229	B3GAT3	OMIM:245600
HP:0006482	Abnormality of dental morphology	9742	IFT140	OMIM:266920
HP:0006482	Abnormality of dental morphology	8621	CDK13	OMIM:617360
HP:0006482	Abnormality of dental morphology	341208	HEPHL1	OMIM:261990
HP:0006482	Abnormality of dental morphology	5587	PRKD1	OMIM:617364
HP:0006482	Abnormality of dental morphology	2702	GJA5	OMIM:612474
HP:0006482	Abnormality of dental morphology	2703	GJA8	OMIM:612474
HP:0006482	Abnormality of dental morphology	7227	TRPS1	OMIM:190350
HP:0006482	Abnormality of dental morphology	2706	GJB2	OMIM:148210
HP:0006482	Abnormality of dental morphology	2690	GHR	ORPHA:633
HP:0006482	Abnormality of dental morphology	64682	ANAPC1	ORPHA:221008
HP:0006482	Abnormality of dental morphology	54084	TSPEAR	OMIM:618180
HP:0006482	Abnormality of dental morphology	9853	RUSC2	OMIM:617773
HP:0006482	Abnormality of dental morphology	60529	ALX4	OMIM:613451
HP:0006482	Abnormality of dental morphology	60529	ALX4	ORPHA:228390
HP:0006482	Abnormality of dental morphology	6603	SMARCD2	OMIM:617475
HP:0006482	Abnormality of dental morphology	81607	NECTIN4	OMIM:613573
HP:0006482	Abnormality of dental morphology	1500	CTNND1	OMIM:617681
HP:0006482	Abnormality of dental morphology	1500	CTNND1	ORPHA:1997
HP:0006482	Abnormality of dental morphology	1723	DHODH	OMIM:263750
HP:0006482	Abnormality of dental morphology	4792	NFKBIA	OMIM:612132
HP:0006482	Abnormality of dental morphology	4487	MSX1	ORPHA:199302
HP:0006482	Abnormality of dental morphology	5818	NECTIN1	ORPHA:199302
HP:0006482	Abnormality of dental morphology	8626	TP63	ORPHA:199302
HP:0006482	Abnormality of dental morphology	3664	IRF6	ORPHA:199302
HP:0006482	Abnormality of dental morphology	10084	PQBP1	OMIM:309500
HP:0006482	Abnormality of dental morphology	23162	MAPK8IP3	OMIM:618443
HP:0006482	Abnormality of dental morphology	157680	VPS13B	ORPHA:193
HP:0006482	Abnormality of dental morphology	29123	ANKRD11	OMIM:148050
HP:0006482	Abnormality of dental morphology	29123	ANKRD11	ORPHA:2332
HP:0006482	Abnormality of dental morphology	57647	DHX37	OMIM:618731
HP:0006482	Abnormality of dental morphology	672	BRCA1	OMIM:617883
HP:0006482	Abnormality of dental morphology	8558	CDK10	OMIM:617694
HP:0006482	Abnormality of dental morphology	738	VPS51	OMIM:618606
HP:0006482	Abnormality of dental morphology	55777	MBD5	ORPHA:228402
HP:0006482	Abnormality of dental morphology	4247	MGAT2	OMIM:212066
HP:0006482	Abnormality of dental morphology	64093	SMOC1	ORPHA:1106
HP:0006482	Abnormality of dental morphology	64135	IFIH1	OMIM:182250
HP:0006482	Abnormality of dental morphology	7994	KAT6A	OMIM:616268
HP:0006482	Abnormality of dental morphology	1739	DLG1	ORPHA:199306
HP:0006482	Abnormality of dental morphology	652	BMP4	ORPHA:199306
HP:0006482	Abnormality of dental morphology	999	CDH1	ORPHA:199306
HP:0006482	Abnormality of dental morphology	5156	PDGFRA	ORPHA:199306
HP:0006482	Abnormality of dental morphology	9411	ARHGAP29	ORPHA:199306
HP:0006482	Abnormality of dental morphology	1748	DLX4	ORPHA:199306
HP:0006482	Abnormality of dental morphology	4810	NHS	OMIM:302350
HP:0006482	Abnormality of dental morphology	6638	SNRPN	ORPHA:177907
HP:0006482	Abnormality of dental morphology	54499	TMCO1	OMIM:213980
HP:0006482	Abnormality of dental morphology	10312	TCIRG1	ORPHA:210110
HP:0006482	Abnormality of dental morphology	1186	CLCN7	ORPHA:210110
HP:0006482	Abnormality of dental morphology	9842	PLEKHM1	ORPHA:210110
HP:0006482	Abnormality of dental morphology	6197	RPS6KA3	ORPHA:192
HP:0006482	Abnormality of dental morphology	64840	PORCN	ORPHA:2092
HP:0006482	Abnormality of dental morphology	9508	ADAMTS3	ORPHA:2136
HP:0006482	Abnormality of dental morphology	118429	ANTXR2	ORPHA:2176
HP:0006482	Abnormality of dental morphology	3845	KRAS	OMIM:163200
HP:0006482	Abnormality of dental morphology	4893	NRAS	OMIM:163200
HP:0006482	Abnormality of dental morphology	3265	HRAS	OMIM:163200
HP:0006482	Abnormality of dental morphology	9839	ZEB2	ORPHA:261537
HP:0006482	Abnormality of dental morphology	9839	ZEB2	ORPHA:261552
HP:0006482	Abnormality of dental morphology	84172	POLR1B	ORPHA:861
HP:0006482	Abnormality of dental morphology	9533	POLR1C	ORPHA:861
HP:0006482	Abnormality of dental morphology	51082	POLR1D	ORPHA:861
HP:0006482	Abnormality of dental morphology	6949	TCOF1	ORPHA:861
HP:0006482	Abnormality of dental morphology	2200	FBN1	OMIM:608328
HP:0006482	Abnormality of dental morphology	6452	SH3BP2	ORPHA:184
HP:0006482	Abnormality of dental morphology	284058	KANSL1	ORPHA:363965
HP:0006482	Abnormality of dental morphology	284058	KANSL1	ORPHA:363958
HP:0006482	Abnormality of dental morphology	1717	DHCR7	ORPHA:818
HP:0006482	Abnormality of dental morphology	3423	IDS	ORPHA:217093
HP:0006482	Abnormality of dental morphology	3423	IDS	ORPHA:217085
HP:0006482	Abnormality of dental morphology	5317	PKP1	ORPHA:158668
HP:0006482	Abnormality of dental morphology	112802	KRT71	OMIM:615896
HP:0006482	Abnormality of dental morphology	1476	CSTB	ORPHA:248
HP:0006482	Abnormality of dental morphology	8260	NAA10	ORPHA:568
HP:0006482	Abnormality of dental morphology	3861	KRT14	ORPHA:69087
HP:0006482	Abnormality of dental morphology	7700	ZNF141	OMIM:615226
HP:0006482	Abnormality of dental morphology	6304	SATB1	OMIM:619229
HP:0006482	Abnormality of dental morphology	9361	LONP1	ORPHA:1458
HP:0006482	Abnormality of dental morphology	7189	TRAF6	ORPHA:1810
HP:0006482	Abnormality of dental morphology	126695	KDF1	ORPHA:1810
HP:0006482	Abnormality of dental morphology	81794	ADAMTS10	OMIM:277600
HP:0006482	Abnormality of dental morphology	5566	PRKACA	ORPHA:289
HP:0006482	Abnormality of dental morphology	5567	PRKACB	ORPHA:289
HP:0006482	Abnormality of dental morphology	2735	GLI1	ORPHA:289
HP:0006482	Abnormality of dental morphology	2121	EVC	ORPHA:289
HP:0006482	Abnormality of dental morphology	51626	DYNC2LI1	ORPHA:289
HP:0006482	Abnormality of dental morphology	132884	EVC2	ORPHA:289
HP:0006482	Abnormality of dental morphology	545	ATR	OMIM:614564
HP:0006482	Abnormality of dental morphology	2263	FGFR2	OMIM:149730
HP:0006482	Abnormality of dental morphology	80326	WNT10A	OMIM:257980
HP:0006482	Abnormality of dental morphology	147372	CCBE1	OMIM:235510
HP:0006482	Abnormality of dental morphology	8517	IKBKG	OMIM:300291
HP:0006482	Abnormality of dental morphology	145173	B3GLCT	OMIM:261540
HP:0006482	Abnormality of dental morphology	51305	KCNK9	ORPHA:166108
HP:0006482	Abnormality of dental morphology	5813	PURA	ORPHA:438216
HP:0006482	Abnormality of dental morphology	10060	ABCC9	OMIM:619719
HP:0006482	Abnormality of dental morphology	6768	ST14	OMIM:602400
HP:0006482	Abnormality of dental morphology	2033	EP300	OMIM:613684
HP:0006482	Abnormality of dental morphology	2033	EP300	OMIM:180849
HP:0006482	Abnormality of dental morphology	2033	EP300	ORPHA:353284
HP:0006482	Abnormality of dental morphology	1387	CREBBP	OMIM:180849
HP:0006482	Abnormality of dental morphology	1387	CREBBP	ORPHA:353277
HP:0006482	Abnormality of dental morphology	1387	CREBBP	ORPHA:353281
HP:0006482	Abnormality of dental morphology	7355	SLC35A2	OMIM:300896
HP:0006482	Abnormality of dental morphology	1802	DPH2	OMIM:620062
HP:0006482	Abnormality of dental morphology	8792	TNFRSF11A	OMIM:174810
HP:0006482	Abnormality of dental morphology	54880	BCOR	OMIM:300166
HP:0006482	Abnormality of dental morphology	64802	NMNAT1	OMIM:619260
HP:0006482	Abnormality of dental morphology	54453	RIN2	ORPHA:217335
HP:0006482	Abnormality of dental morphology	54453	RIN2	OMIM:613075
HP:0006482	Abnormality of dental morphology	79633	FAT4	OMIM:616006
HP:0006482	Abnormality of dental morphology	79633	FAT4	OMIM:615546
HP:0006482	Abnormality of dental morphology	79633	FAT4	ORPHA:314679
HP:0006482	Abnormality of dental morphology	6662	SOX9	OMIM:114290
HP:0006482	Abnormality of dental morphology	8642	DCHS1	ORPHA:314679
HP:0006482	Abnormality of dental morphology	8642	DCHS1	OMIM:601390
HP:0006482	Abnormality of dental morphology	79583	TMEM231	ORPHA:2752
HP:0006482	Abnormality of dental morphology	23545	ATP6V0A2	ORPHA:2834
HP:0006483	Abnormal number of teeth	10749	KIF1C	ORPHA:397946
HP:0006483	Abnormal number of teeth	2245	FGD1	OMIM:305400
HP:0006483	Abnormal number of teeth	54517	PUS7	OMIM:618342
HP:0006483	Abnormal number of teeth	51728	POLR3K	OMIM:619310
HP:0006483	Abnormal number of teeth	51	ACOX1	ORPHA:2971
HP:0006483	Abnormal number of teeth	64324	NSD1	ORPHA:821
HP:0006483	Abnormal number of teeth	29072	SETD2	ORPHA:821
HP:0006483	Abnormal number of teeth	10297	APC2	ORPHA:821
HP:0006483	Abnormal number of teeth	55593	OTUD5	OMIM:301056
HP:0006483	Abnormal number of teeth	2296	FOXC1	ORPHA:782
HP:0006483	Abnormal number of teeth	2296	FOXC1	OMIM:602482
HP:0006483	Abnormal number of teeth	221496	LEMD2	OMIM:619322
HP:0006483	Abnormal number of teeth	387119	CEP85L	OMIM:618873
HP:0006483	Abnormal number of teeth	3313	HSPA9	OMIM:616854
HP:0006483	Abnormal number of teeth	4792	NFKBIA	OMIM:612132
HP:0006483	Abnormal number of teeth	8085	KMT2D	ORPHA:2322
HP:0006483	Abnormal number of teeth	7403	KDM6A	ORPHA:2322
HP:0006483	Abnormal number of teeth	7403	KDM6A	OMIM:300867
HP:0006483	Abnormal number of teeth	51360	MBTPS2	ORPHA:659
HP:0006483	Abnormal number of teeth	162514	TRPV3	ORPHA:659
HP:0006483	Abnormal number of teeth	64065	PERP	ORPHA:659
HP:0006483	Abnormal number of teeth	57539	WDR35	ORPHA:1515
HP:0006483	Abnormal number of teeth	112752	IFT43	ORPHA:1515
HP:0006483	Abnormal number of teeth	51098	IFT52	ORPHA:1515
HP:0006483	Abnormal number of teeth	57728	WDR19	ORPHA:1515
HP:0006483	Abnormal number of teeth	4038	LRP4	ORPHA:3258
HP:0006483	Abnormal number of teeth	4038	LRP4	OMIM:212780
HP:0006483	Abnormal number of teeth	6926	TBX3	ORPHA:3138
HP:0006483	Abnormal number of teeth	6926	TBX3	OMIM:181450
HP:0006483	Abnormal number of teeth	4297	KMT2A	OMIM:605130
HP:0006483	Abnormal number of teeth	10940	POP1	OMIM:617396
HP:0006483	Abnormal number of teeth	1513	CTSK	OMIM:265800
HP:0006483	Abnormal number of teeth	1513	CTSK	ORPHA:763
HP:0006483	Abnormal number of teeth	10265	IRX5	OMIM:611174
HP:0006483	Abnormal number of teeth	8200	GDF5	ORPHA:63442
HP:0006483	Abnormal number of teeth	64131	XYLT1	OMIM:615777
HP:0006483	Abnormal number of teeth	84100	ARL6	OMIM:209900
HP:0006483	Abnormal number of teeth	79140	CCDC28B	OMIM:209900
HP:0006483	Abnormal number of teeth	582	BBS1	OMIM:209900
HP:0006483	Abnormal number of teeth	7080	NKX2-1	ORPHA:209905
HP:0006483	Abnormal number of teeth	5566	PRKACA	ORPHA:289
HP:0006483	Abnormal number of teeth	5567	PRKACB	ORPHA:289
HP:0006483	Abnormal number of teeth	5567	PRKACB	OMIM:619143
HP:0006483	Abnormal number of teeth	2735	GLI1	ORPHA:289
HP:0006483	Abnormal number of teeth	8091	HMGA2	ORPHA:94063
HP:0006483	Abnormal number of teeth	23592	LEMD3	ORPHA:94063
HP:0006483	Abnormal number of teeth	10815	CPLX1	ORPHA:280
HP:0006483	Abnormal number of teeth	10815	CPLX1	OMIM:194190
HP:0006483	Abnormal number of teeth	54872	PIGG	ORPHA:280
HP:0006483	Abnormal number of teeth	7469	NELFA	ORPHA:280
HP:0006483	Abnormal number of teeth	1487	CTBP1	ORPHA:280
HP:0006483	Abnormal number of teeth	1487	CTBP1	OMIM:194190
HP:0006483	Abnormal number of teeth	3954	LETM1	ORPHA:280
HP:0006483	Abnormal number of teeth	3954	LETM1	OMIM:194190
HP:0006483	Abnormal number of teeth	7468	NSD2	ORPHA:280
HP:0006483	Abnormal number of teeth	7468	NSD2	OMIM:194190
HP:0006483	Abnormal number of teeth	9509	ADAMTS2	OMIM:225410
HP:0006483	Abnormal number of teeth	4591	TRIM37	OMIM:253250
HP:0006483	Abnormal number of teeth	55012	PPP2R3C	OMIM:618419
HP:0006483	Abnormal number of teeth	6023	RMRP	OMIM:607095
HP:0006483	Abnormal number of teeth	5573	PRKAR1A	OMIM:101800
HP:0006483	Abnormal number of teeth	3737	KCNA2	ORPHA:442835
HP:0006483	Abnormal number of teeth	1759	DNM1	ORPHA:442835
HP:0006483	Abnormal number of teeth	8120	AP3B2	ORPHA:442835
HP:0006483	Abnormal number of teeth	523	ATP6V1A	ORPHA:442835
HP:0006483	Abnormal number of teeth	10991	SLC38A3	ORPHA:442835
HP:0006483	Abnormal number of teeth	51343	FZR1	ORPHA:442835
HP:0006483	Abnormal number of teeth	22906	TRAK1	ORPHA:442835
HP:0006483	Abnormal number of teeth	2566	GABRG2	ORPHA:442835
HP:0006483	Abnormal number of teeth	1917	EEF1A2	ORPHA:442835
HP:0006483	Abnormal number of teeth	2561	GABRB2	ORPHA:442835
HP:0006483	Abnormal number of teeth	8831	SYNGAP1	ORPHA:442835
HP:0006483	Abnormal number of teeth	7532	YWHAG	ORPHA:442835
HP:0006483	Abnormal number of teeth	79876	UBA5	ORPHA:442835
HP:0006483	Abnormal number of teeth	6328	SCN3A	ORPHA:442835
HP:0006483	Abnormal number of teeth	2558	GABRA5	ORPHA:442835
HP:0006483	Abnormal number of teeth	781	CACNA2D1	ORPHA:442835
HP:0006483	Abnormal number of teeth	2906	GRIN2D	ORPHA:442835
HP:0006483	Abnormal number of teeth	116150	NUS1	ORPHA:442835
HP:0006483	Abnormal number of teeth	10659	CELF2	ORPHA:442835
HP:0006483	Abnormal number of teeth	774	CACNA1B	ORPHA:442835
HP:0006483	Abnormal number of teeth	1213	CLTC	ORPHA:442835
HP:0006483	Abnormal number of teeth	51741	WWOX	ORPHA:442835
HP:0006483	Abnormal number of teeth	23334	SZT2	ORPHA:442835
HP:0006483	Abnormal number of teeth	51412	ACTL6B	ORPHA:442835
HP:0006483	Abnormal number of teeth	348980	HCN1	ORPHA:442835
HP:0006483	Abnormal number of teeth	6506	SLC1A2	ORPHA:442835
HP:0006483	Abnormal number of teeth	8867	SYNJ1	ORPHA:442835
HP:0006483	Abnormal number of teeth	2258	FGF13	ORPHA:442835
HP:0006483	Abnormal number of teeth	477	ATP1A2	ORPHA:442835
HP:0006483	Abnormal number of teeth	3745	KCNB1	ORPHA:442835
HP:0006483	Abnormal number of teeth	284111	SLC13A5	ORPHA:442835
HP:0006483	Abnormal number of teeth	284111	SLC13A5	OMIM:615905
HP:0006483	Abnormal number of teeth	25977	NECAP1	ORPHA:442835
HP:0006483	Abnormal number of teeth	16	AARS1	ORPHA:442835
HP:0006483	Abnormal number of teeth	6334	SCN8A	ORPHA:442835
HP:0006483	Abnormal number of teeth	22866	CNKSR2	ORPHA:442835
HP:0006483	Abnormal number of teeth	9568	GABBR2	ORPHA:442835
HP:0006483	Abnormal number of teeth	2555	GABRA2	ORPHA:442835
HP:0006483	Abnormal number of teeth	55152	DALRD3	ORPHA:442835
HP:0006483	Abnormal number of teeth	773	CACNA1A	ORPHA:442835
HP:0006483	Abnormal number of teeth	26999	CYFIP2	ORPHA:442835
HP:0006483	Abnormal number of teeth	4915	NTRK2	ORPHA:442835
HP:0006483	Abnormal number of teeth	25973	PARS2	ORPHA:442835
HP:0006483	Abnormal number of teeth	23097	CDK19	ORPHA:442835
HP:0006483	Abnormal number of teeth	64801	ARV1	ORPHA:442835
HP:0006483	Abnormal number of teeth	79947	DHDDS	ORPHA:442835
HP:0006483	Abnormal number of teeth	2257	FGF12	ORPHA:442835
HP:0006483	Abnormal number of teeth	5530	PPP3CA	ORPHA:442835
HP:0006483	Abnormal number of teeth	478	ATP1A3	ORPHA:442835
HP:0006483	Abnormal number of teeth	53834	FGFRL1	OMIM:194190
HP:0006483	Abnormal number of teeth	55131	RBM28	ORPHA:157954
HP:0006483	Abnormal number of teeth	55131	RBM28	OMIM:612079
HP:0006483	Abnormal number of teeth	134218	DNAJC21	OMIM:617052
HP:0006483	Abnormal number of teeth	3914	LAMB3	OMIM:226650
HP:0006483	Abnormal number of teeth	117581	TWIST2	OMIM:209885
HP:0006483	Abnormal number of teeth	6804	STX1A	ORPHA:904
HP:0006483	Abnormal number of teeth	7461	CLIP2	ORPHA:904
HP:0006483	Abnormal number of teeth	84277	DNAJC30	ORPHA:904
HP:0006483	Abnormal number of teeth	8468	FKBP6	ORPHA:904
HP:0006483	Abnormal number of teeth	5982	RFC2	ORPHA:904
HP:0006483	Abnormal number of teeth	2969	GTF2I	ORPHA:904
HP:0006483	Abnormal number of teeth	3984	LIMK1	ORPHA:904
HP:0006483	Abnormal number of teeth	9569	GTF2IRD1	ORPHA:904
HP:0006483	Abnormal number of teeth	155382	VPS37D	ORPHA:904
HP:0006483	Abnormal number of teeth	155368	METTL27	ORPHA:904
HP:0006483	Abnormal number of teeth	114049	BUD23	ORPHA:904
HP:0006483	Abnormal number of teeth	7458	EIF4H	ORPHA:904
HP:0006483	Abnormal number of teeth	84163	GTF2IRD2	ORPHA:904
HP:0006483	Abnormal number of teeth	9275	BCL7B	ORPHA:904
HP:0006483	Abnormal number of teeth	26608	TBL2	ORPHA:904
HP:0006483	Abnormal number of teeth	653361	NCF1	ORPHA:904
HP:0006483	Abnormal number of teeth	135886	TMEM270	ORPHA:904
HP:0006483	Abnormal number of teeth	51085	MLXIPL	ORPHA:904
HP:0006483	Abnormal number of teeth	51085	MLXIPL	OMIM:194050
HP:0006483	Abnormal number of teeth	9031	BAZ1B	ORPHA:904
HP:0006483	Abnormal number of teeth	2006	ELN	ORPHA:904
HP:0006483	Abnormal number of teeth	2006	ELN	OMIM:194050
HP:0006483	Abnormal number of teeth	79005	SCNM1	OMIM:620107
HP:0006483	Abnormal number of teeth	150468	CKAP2L	OMIM:272440
HP:0006483	Abnormal number of teeth	4000	LMNA	ORPHA:740
HP:0006483	Abnormal number of teeth	10269	ZMPSTE24	ORPHA:740
HP:0006483	Abnormal number of teeth	2261	FGFR3	OMIM:620192
HP:0006483	Abnormal number of teeth	2261	FGFR3	ORPHA:2363
HP:0006483	Abnormal number of teeth	10651	MTX2	OMIM:619127
HP:0006483	Abnormal number of teeth	50485	SMARCAL1	ORPHA:1830
HP:0006483	Abnormal number of teeth	2255	FGF10	ORPHA:2363
HP:0006483	Abnormal number of teeth	5295	PIK3R1	OMIM:269880
HP:0006483	Abnormal number of teeth	23162	MAPK8IP3	OMIM:618443
HP:0006483	Abnormal number of teeth	79977	GRHL2	OMIM:616029
HP:0006483	Abnormal number of teeth	2317	FLNB	OMIM:150250
HP:0006483	Abnormal number of teeth	55181	SMG8	OMIM:619268
HP:0006483	Abnormal number of teeth	91252	SLC39A13	OMIM:612350
HP:0006483	Abnormal number of teeth	80169	CTC1	ORPHA:1775
HP:0006483	Abnormal number of teeth	26277	TINF2	ORPHA:1775
HP:0006483	Abnormal number of teeth	55651	NHP2	ORPHA:1775
HP:0006483	Abnormal number of teeth	79650	USB1	ORPHA:1775
HP:0006483	Abnormal number of teeth	55135	WRAP53	ORPHA:1775
HP:0006483	Abnormal number of teeth	51750	RTEL1	ORPHA:1775
HP:0006483	Abnormal number of teeth	4869	NPM1	ORPHA:1775
HP:0006483	Abnormal number of teeth	7012	TERC	ORPHA:1775
HP:0006483	Abnormal number of teeth	55505	NOP10	ORPHA:1775
HP:0006483	Abnormal number of teeth	5073	PARN	ORPHA:1775
HP:0006483	Abnormal number of teeth	7015	TERT	ORPHA:1775
HP:0006483	Abnormal number of teeth	1736	DKC1	ORPHA:1775
HP:0006483	Abnormal number of teeth	7298	TYMS	ORPHA:1775
HP:0006483	Abnormal number of teeth	157657	CFAP418	OMIM:617406
HP:0006483	Abnormal number of teeth	11342	RNF13	ORPHA:544503
HP:0006483	Abnormal number of teeth	7189	TRAF6	ORPHA:1810
HP:0006483	Abnormal number of teeth	126695	KDF1	ORPHA:1810
HP:0006483	Abnormal number of teeth	128178	EDARADD	OMIM:129490
HP:0006483	Abnormal number of teeth	128178	EDARADD	OMIM:224900
HP:0006483	Abnormal number of teeth	10913	EDAR	OMIM:129490
HP:0006483	Abnormal number of teeth	10913	EDAR	OMIM:224900
HP:0006483	Abnormal number of teeth	57822	GRHL3	OMIM:606713
HP:0006483	Abnormal number of teeth	80067	DCAF17	OMIM:241080
HP:0006483	Abnormal number of teeth	80067	DCAF17	ORPHA:3464
HP:0006483	Abnormal number of teeth	1857	DVL3	ORPHA:3107
HP:0006483	Abnormal number of teeth	7474	WNT5A	ORPHA:3107
HP:0006483	Abnormal number of teeth	1855	DVL1	ORPHA:3107
HP:0006483	Abnormal number of teeth	2535	FZD2	ORPHA:3107
HP:0006483	Abnormal number of teeth	6197	RPS6KA3	ORPHA:276630
HP:0006483	Abnormal number of teeth	55764	IFT122	OMIM:218330
HP:0006483	Abnormal number of teeth	1161	ERCC8	ORPHA:90321
HP:0006483	Abnormal number of teeth	1161	ERCC8	ORPHA:90322
HP:0006483	Abnormal number of teeth	2072	ERCC4	ORPHA:90321
HP:0006483	Abnormal number of teeth	2074	ERCC6	ORPHA:90321
HP:0006483	Abnormal number of teeth	2074	ERCC6	ORPHA:90322
HP:0006483	Abnormal number of teeth	2067	ERCC1	ORPHA:90322
HP:0006483	Abnormal number of teeth	64840	PORCN	OMIM:305600
HP:0006483	Abnormal number of teeth	8313	AXIN2	OMIM:608615
HP:0006483	Abnormal number of teeth	8313	AXIN2	ORPHA:99798
HP:0006483	Abnormal number of teeth	55703	POLR3B	OMIM:614381
HP:0006483	Abnormal number of teeth	55703	POLR3B	OMIM:607694
HP:0006483	Abnormal number of teeth	84265	POLR3GL	OMIM:619234
HP:0006483	Abnormal number of teeth	29957	SLC25A24	ORPHA:2095
HP:0006483	Abnormal number of teeth	29957	SLC25A24	OMIM:612289
HP:0006483	Abnormal number of teeth	22856	CHSY1	ORPHA:363417
HP:0006483	Abnormal number of teeth	26128	KIFBP	OMIM:609460
HP:0006483	Abnormal number of teeth	23394	ADNP	OMIM:615873
HP:0006483	Abnormal number of teeth	29123	ANKRD11	ORPHA:2332
HP:0006483	Abnormal number of teeth	29123	ANKRD11	OMIM:148050
HP:0006483	Abnormal number of teeth	11128	POLR3A	ORPHA:447896
HP:0006483	Abnormal number of teeth	11128	POLR3A	OMIM:607694
HP:0006483	Abnormal number of teeth	64094	SMOC2	OMIM:125400
HP:0006483	Abnormal number of teeth	5745	PTH1R	OMIM:600002
HP:0006483	Abnormal number of teeth	4054	LTBP3	OMIM:601216
HP:0006483	Abnormal number of teeth	6452	SH3BP2	ORPHA:184
HP:0006483	Abnormal number of teeth	6452	SH3BP2	OMIM:118400
HP:0006483	Abnormal number of teeth	7204	TRIO	OMIM:617061
HP:0006483	Abnormal number of teeth	54880	BCOR	OMIM:300166
HP:0006483	Abnormal number of teeth	54880	BCOR	ORPHA:2712
HP:0006483	Abnormal number of teeth	4094	MAF	ORPHA:1272
HP:0006483	Abnormal number of teeth	5744	PTHLH	OMIM:613382
HP:0006483	Abnormal number of teeth	23314	SATB2	ORPHA:251019
HP:0006483	Abnormal number of teeth	23314	SATB2	OMIM:612313
HP:0006483	Abnormal number of teeth	10847	SRCAP	ORPHA:2044
HP:0006483	Abnormal number of teeth	84919	PPP1R15B	OMIM:616817
HP:0006483	Abnormal number of teeth	84919	PPP1R15B	ORPHA:391408
HP:0006483	Abnormal number of teeth	93587	TRMT10A	ORPHA:391408
HP:0006483	Abnormal number of teeth	9076	CLDN1	ORPHA:59303
HP:0006483	Abnormal number of teeth	9076	CLDN1	OMIM:607626
HP:0006483	Abnormal number of teeth	83999	KREMEN1	OMIM:617392
HP:0006483	Abnormal number of teeth	3190	HNRNPK	OMIM:616580
HP:0006483	Abnormal number of teeth	5286	PIK3C2A	OMIM:618440
HP:0006483	Abnormal number of teeth	5286	PIK3C2A	ORPHA:557003
HP:0006483	Abnormal number of teeth	387	RHOA	OMIM:618727
HP:0006483	Abnormal number of teeth	6885	MAP3K7	ORPHA:1826
HP:0006483	Abnormal number of teeth	5308	PITX2	OMIM:180500
HP:0006483	Abnormal number of teeth	3759	KCNJ2	OMIM:170390
HP:0006483	Abnormal number of teeth	3759	KCNJ2	ORPHA:37553
HP:0006483	Abnormal number of teeth	147372	CCBE1	OMIM:235510
HP:0006483	Abnormal number of teeth	2260	FGFR1	ORPHA:99798
HP:0006483	Abnormal number of teeth	7341	SUMO1	ORPHA:99798
HP:0006483	Abnormal number of teeth	80326	WNT10A	ORPHA:99798
HP:0006483	Abnormal number of teeth	4040	LRP6	ORPHA:99798
HP:0006483	Abnormal number of teeth	7039	TGFA	ORPHA:99798
HP:0006483	Abnormal number of teeth	197131	UBR1	ORPHA:2315
HP:0006483	Abnormal number of teeth	79644	SRD5A3	ORPHA:324737
HP:0006483	Abnormal number of teeth	222663	SCUBE3	OMIM:619184
HP:0006483	Abnormal number of teeth	64919	BCL11B	OMIM:618092
HP:0006483	Abnormal number of teeth	1523	CUX1	OMIM:618330
HP:0006483	Abnormal number of teeth	25871	NEPRO	OMIM:618853
HP:0006483	Abnormal number of teeth	8517	IKBKG	OMIM:308300
HP:0006483	Abnormal number of teeth	3762	KCNJ5	ORPHA:37553
HP:0006483	Abnormal number of teeth	54084	TSPEAR	OMIM:620173
HP:0006483	Abnormal number of teeth	10075	HUWE1	OMIM:309590
HP:0006483	Abnormal number of teeth	641	BLM	OMIM:210900
HP:0006483	Abnormal number of teeth	2071	ERCC3	OMIM:616390
HP:0006483	Abnormal number of teeth	8260	NAA10	OMIM:309800
HP:0006483	Abnormal number of teeth	145173	B3GLCT	OMIM:261540
HP:0006483	Abnormal number of teeth	8626	TP63	OMIM:106260
HP:0006483	Abnormal number of teeth	8626	TP63	OMIM:604292
HP:0006483	Abnormal number of teeth	7480	WNT10B	OMIM:617073
HP:0006483	Abnormal number of teeth	2316	FLNA	OMIM:305620
HP:0006483	Abnormal number of teeth	2316	FLNA	OMIM:311300
HP:0006483	Abnormal number of teeth	64388	GREM2	OMIM:617275
HP:0006483	Abnormal number of teeth	1001	CDH3	OMIM:225280
HP:0006483	Abnormal number of teeth	1001	CDH3	ORPHA:1897
HP:0006483	Abnormal number of teeth	545	ATR	OMIM:210600
HP:0006483	Abnormal number of teeth	1896	EDA	OMIM:313500
HP:0006483	Abnormal number of teeth	526	ATP6V1B2	OMIM:124480
HP:0006483	Abnormal number of teeth	22995	CEP152	OMIM:613823
HP:0006483	Abnormal number of teeth	2697	GJA1	OMIM:164200
HP:0006483	Abnormal number of teeth	4750	NEK1	ORPHA:2751
HP:0006483	Abnormal number of teeth	28514	DLL1	ORPHA:280200
HP:0006483	Abnormal number of teeth	28514	DLL1	ORPHA:220386
HP:0006483	Abnormal number of teeth	28514	DLL1	ORPHA:93926
HP:0006483	Abnormal number of teeth	28514	DLL1	ORPHA:93924
HP:0006483	Abnormal number of teeth	28514	DLL1	ORPHA:93925
HP:0006483	Abnormal number of teeth	2253	FGF8	ORPHA:280200
HP:0006483	Abnormal number of teeth	2253	FGF8	ORPHA:220386
HP:0006483	Abnormal number of teeth	2253	FGF8	ORPHA:93926
HP:0006483	Abnormal number of teeth	2253	FGF8	ORPHA:93924
HP:0006483	Abnormal number of teeth	2253	FGF8	ORPHA:93925
HP:0006483	Abnormal number of teeth	6496	SIX3	ORPHA:280200
HP:0006483	Abnormal number of teeth	6496	SIX3	ORPHA:220386
HP:0006483	Abnormal number of teeth	6496	SIX3	OMIM:157170
HP:0006483	Abnormal number of teeth	6496	SIX3	ORPHA:93926
HP:0006483	Abnormal number of teeth	6496	SIX3	ORPHA:93924
HP:0006483	Abnormal number of teeth	6496	SIX3	ORPHA:93925
HP:0006483	Abnormal number of teeth	7050	TGIF1	ORPHA:280200
HP:0006483	Abnormal number of teeth	7050	TGIF1	ORPHA:220386
HP:0006483	Abnormal number of teeth	7050	TGIF1	ORPHA:93926
HP:0006483	Abnormal number of teeth	7050	TGIF1	ORPHA:93924
HP:0006483	Abnormal number of teeth	7050	TGIF1	ORPHA:93925
HP:0006483	Abnormal number of teeth	4838	NODAL	ORPHA:280200
HP:0006483	Abnormal number of teeth	4838	NODAL	ORPHA:220386
HP:0006483	Abnormal number of teeth	4838	NODAL	ORPHA:93926
HP:0006483	Abnormal number of teeth	4838	NODAL	ORPHA:93924
HP:0006483	Abnormal number of teeth	4838	NODAL	ORPHA:93925
HP:0006483	Abnormal number of teeth	6469	SHH	ORPHA:280200
HP:0006483	Abnormal number of teeth	6469	SHH	ORPHA:220386
HP:0006483	Abnormal number of teeth	6469	SHH	OMIM:147250
HP:0006483	Abnormal number of teeth	6469	SHH	OMIM:142945
HP:0006483	Abnormal number of teeth	6469	SHH	ORPHA:93926
HP:0006483	Abnormal number of teeth	6469	SHH	ORPHA:93924
HP:0006483	Abnormal number of teeth	6469	SHH	ORPHA:93925
HP:0006483	Abnormal number of teeth	51684	SUFU	ORPHA:280200
HP:0006483	Abnormal number of teeth	7546	ZIC2	ORPHA:280200
HP:0006483	Abnormal number of teeth	7546	ZIC2	ORPHA:220386
HP:0006483	Abnormal number of teeth	7546	ZIC2	ORPHA:93926
HP:0006483	Abnormal number of teeth	7546	ZIC2	ORPHA:93924
HP:0006483	Abnormal number of teeth	7546	ZIC2	ORPHA:93925
HP:0006483	Abnormal number of teeth	2619	GAS1	ORPHA:280200
HP:0006483	Abnormal number of teeth	2619	GAS1	ORPHA:220386
HP:0006483	Abnormal number of teeth	2619	GAS1	ORPHA:93926
HP:0006483	Abnormal number of teeth	2619	GAS1	ORPHA:93924
HP:0006483	Abnormal number of teeth	2619	GAS1	ORPHA:93925
HP:0006483	Abnormal number of teeth	84976	DISP1	ORPHA:280200
HP:0006483	Abnormal number of teeth	84976	DISP1	ORPHA:220386
HP:0006483	Abnormal number of teeth	84976	DISP1	ORPHA:93926
HP:0006483	Abnormal number of teeth	84976	DISP1	ORPHA:93924
HP:0006483	Abnormal number of teeth	84976	DISP1	ORPHA:93925
HP:0006483	Abnormal number of teeth	2736	GLI2	ORPHA:280200
HP:0006483	Abnormal number of teeth	2736	GLI2	ORPHA:220386
HP:0006483	Abnormal number of teeth	2736	GLI2	OMIM:610829
HP:0006483	Abnormal number of teeth	2736	GLI2	ORPHA:93926
HP:0006483	Abnormal number of teeth	2736	GLI2	ORPHA:93924
HP:0006483	Abnormal number of teeth	2736	GLI2	ORPHA:93925
HP:0006483	Abnormal number of teeth	8928	FOXH1	ORPHA:280200
HP:0006483	Abnormal number of teeth	8928	FOXH1	ORPHA:220386
HP:0006483	Abnormal number of teeth	8928	FOXH1	ORPHA:93926
HP:0006483	Abnormal number of teeth	8928	FOXH1	ORPHA:93924
HP:0006483	Abnormal number of teeth	8928	FOXH1	ORPHA:93925
HP:0006483	Abnormal number of teeth	5727	PTCH1	ORPHA:280200
HP:0006483	Abnormal number of teeth	5727	PTCH1	ORPHA:220386
HP:0006483	Abnormal number of teeth	5727	PTCH1	OMIM:610828
HP:0006483	Abnormal number of teeth	5727	PTCH1	ORPHA:93926
HP:0006483	Abnormal number of teeth	5727	PTCH1	ORPHA:93924
HP:0006483	Abnormal number of teeth	5727	PTCH1	ORPHA:93925
HP:0006483	Abnormal number of teeth	50937	CDON	ORPHA:280200
HP:0006483	Abnormal number of teeth	50937	CDON	ORPHA:220386
HP:0006483	Abnormal number of teeth	50937	CDON	ORPHA:93926
HP:0006483	Abnormal number of teeth	50937	CDON	ORPHA:93924
HP:0006483	Abnormal number of teeth	50937	CDON	ORPHA:93925
HP:0006483	Abnormal number of teeth	23019	CNOT1	ORPHA:556955
HP:0006483	Abnormal number of teeth	10735	STAG2	OMIM:301043
HP:0006483	Abnormal number of teeth	10735	STAG2	ORPHA:220386
HP:0006483	Abnormal number of teeth	10735	STAG2	ORPHA:93925
HP:0006483	Abnormal number of teeth	8243	SMC1A	OMIM:301044
HP:0006483	Abnormal number of teeth	8243	SMC1A	ORPHA:220386
HP:0006483	Abnormal number of teeth	6491	STIL	ORPHA:220386
HP:0006483	Abnormal number of teeth	6491	STIL	OMIM:612703
HP:0006483	Abnormal number of teeth	6491	STIL	ORPHA:93926
HP:0006483	Abnormal number of teeth	6491	STIL	ORPHA:93924
HP:0006483	Abnormal number of teeth	6491	STIL	ORPHA:93925
HP:0006483	Abnormal number of teeth	2121	EVC	OMIM:193530
HP:0006483	Abnormal number of teeth	2121	EVC	ORPHA:952
HP:0006483	Abnormal number of teeth	132884	EVC2	OMIM:193530
HP:0006483	Abnormal number of teeth	132884	EVC2	ORPHA:952
HP:0006483	Abnormal number of teeth	4087	SMAD2	OMIM:619657
HP:0006483	Abnormal number of teeth	4281	MID1	OMIM:300000
HP:0006483	Abnormal number of teeth	23007	PLCH1	ORPHA:93925
HP:0006483	Abnormal number of teeth	4810	NHS	OMIM:302350
HP:0006483	Abnormal number of teeth	284252	KCTD1	OMIM:181270
HP:0006483	Abnormal number of teeth	716	C1S	ORPHA:75392
HP:0006483	Abnormal number of teeth	715	C1R	ORPHA:75392
HP:0006483	Abnormal number of teeth	51715	RAB23	OMIM:201000
HP:0006483	Abnormal number of teeth	5888	RAD51	OMIM:617244
HP:0006483	Abnormal number of teeth	23184	MESD	OMIM:618644
HP:0006483	Abnormal number of teeth	2783	GNB2	OMIM:619503
HP:0006483	Abnormal number of teeth	9775	EIF4A3	OMIM:268305
HP:0006483	Abnormal number of teeth	1747	DLX3	ORPHA:3352
HP:0006483	Abnormal number of teeth	9578	CDC42BPB	OMIM:619841
HP:0006483	Abnormal number of teeth	7840	ALMS1	ORPHA:64
HP:0006483	Abnormal number of teeth	157680	VPS13B	ORPHA:193
HP:0006483	Abnormal number of teeth	9508	ADAMTS3	ORPHA:2136
HP:0006483	Abnormal number of teeth	79633	FAT4	ORPHA:2136
HP:0006483	Abnormal number of teeth	9401	RECQL4	ORPHA:221016
HP:0006483	Abnormal number of teeth	5728	PTEN	ORPHA:744
HP:0006483	Abnormal number of teeth	207	AKT1	ORPHA:744
HP:0006483	Abnormal number of teeth	84172	POLR1B	ORPHA:861
HP:0006483	Abnormal number of teeth	9533	POLR1C	ORPHA:861
HP:0006483	Abnormal number of teeth	51082	POLR1D	ORPHA:861
HP:0006483	Abnormal number of teeth	6949	TCOF1	ORPHA:861
HP:0006483	Abnormal number of teeth	1298	COL9A2	OMIM:600204
HP:0006483	Abnormal number of teeth	2263	FGFR2	ORPHA:1555
HP:0006483	Abnormal number of teeth	1717	DHCR7	ORPHA:818
HP:0006483	Abnormal number of teeth	4952	OCRL	ORPHA:534
HP:0006483	Abnormal number of teeth	5980	REV3L	ORPHA:570
HP:0006483	Abnormal number of teeth	23129	PLXND1	ORPHA:570
HP:0006483	Abnormal number of teeth	84068	SLC10A7	OMIM:618363
HP:0006483	Abnormal number of teeth	1804	DPP6	ORPHA:2514
HP:0006483	Abnormal number of teeth	4001	LMNB1	ORPHA:2514
HP:0006483	Abnormal number of teeth	5116	PCNT	ORPHA:2637
HP:0006483	Abnormal number of teeth	5116	PCNT	ORPHA:808
HP:0006483	Abnormal number of teeth	90993	CREB3L1	OMIM:616229
HP:0006483	Abnormal number of teeth	1062	CENPE	ORPHA:808
HP:0006483	Abnormal number of teeth	5932	RBBP8	ORPHA:808
HP:0006483	Abnormal number of teeth	79902	NUP85	ORPHA:808
HP:0006483	Abnormal number of teeth	84126	ATRIP	ORPHA:808
HP:0006483	Abnormal number of teeth	55835	CENPJ	ORPHA:808
HP:0006483	Abnormal number of teeth	10293	TRAIP	ORPHA:808
HP:0006483	Abnormal number of teeth	10733	PLK4	ORPHA:808
HP:0006483	Abnormal number of teeth	1832	DSP	OMIM:605676
HP:0006483	Abnormal number of teeth	1832	DSP	OMIM:615821
HP:0006483	Abnormal number of teeth	1500	CTNND1	OMIM:617681
HP:0006483	Abnormal number of teeth	57647	DHX37	OMIM:618731
HP:0006483	Abnormal number of teeth	7020	TFAP2A	ORPHA:1297
HP:0006483	Abnormal number of teeth	2690	GHR	ORPHA:633
HP:0006483	Abnormal number of teeth	10371	SEMA3A	ORPHA:478
HP:0006483	Abnormal number of teeth	81848	SPRY4	ORPHA:478
HP:0006483	Abnormal number of teeth	23767	FLRT3	ORPHA:478
HP:0006483	Abnormal number of teeth	128674	PROKR2	ORPHA:478
HP:0006483	Abnormal number of teeth	79625	NDNF	ORPHA:478
HP:0006483	Abnormal number of teeth	389549	FEZF1	ORPHA:478
HP:0006483	Abnormal number of teeth	1630	DCC	ORPHA:478
HP:0006483	Abnormal number of teeth	3730	ANOS1	ORPHA:478
HP:0006483	Abnormal number of teeth	54756	IL17RD	ORPHA:478
HP:0006483	Abnormal number of teeth	6663	SOX10	ORPHA:478
HP:0006483	Abnormal number of teeth	285025	CCDC141	ORPHA:478
HP:0006483	Abnormal number of teeth	60675	PROK2	ORPHA:478
HP:0006483	Abnormal number of teeth	55636	CHD7	ORPHA:478
HP:0006483	Abnormal number of teeth	1848	DUSP6	ORPHA:478
HP:0006483	Abnormal number of teeth	6870	TACR3	ORPHA:478
HP:0006483	Abnormal number of teeth	55717	WDR11	ORPHA:478
HP:0006483	Abnormal number of teeth	9394	HS6ST1	ORPHA:478
HP:0006483	Abnormal number of teeth	8820	HESX1	ORPHA:478
HP:0006483	Abnormal number of teeth	8822	FGF17	ORPHA:478
HP:0006483	Abnormal number of teeth	1075	CTSC	ORPHA:678
HP:0006483	Abnormal number of teeth	64682	ANAPC1	ORPHA:221008
HP:0006483	Abnormal number of teeth	4487	MSX1	ORPHA:199306
HP:0006483	Abnormal number of teeth	5818	NECTIN1	ORPHA:199306
HP:0006483	Abnormal number of teeth	1739	DLG1	ORPHA:199306
HP:0006483	Abnormal number of teeth	652	BMP4	ORPHA:199306
HP:0006483	Abnormal number of teeth	999	CDH1	ORPHA:199306
HP:0006483	Abnormal number of teeth	5156	PDGFRA	ORPHA:199306
HP:0006483	Abnormal number of teeth	3664	IRF6	ORPHA:199306
HP:0006483	Abnormal number of teeth	9411	ARHGAP29	ORPHA:199306
HP:0006483	Abnormal number of teeth	1748	DLX4	ORPHA:199306
HP:0006483	Abnormal number of teeth	22827	PUF60	ORPHA:508488
HP:0006483	Abnormal number of teeth	5457	POU4F1	ORPHA:314647
HP:0006483	Abnormal number of teeth	23261	CAMTA1	ORPHA:314647
HP:0006483	Abnormal number of teeth	3572	IL6ST	OMIM:619752
HP:0006483	Abnormal number of teeth	3590	IL11RA	OMIM:614188
HP:0006483	Abnormal number of teeth	1859	DYRK1A	ORPHA:268261
HP:0006483	Abnormal number of teeth	26005	C2CD3	ORPHA:434179
HP:0006483	Abnormal number of teeth	26005	C2CD3	OMIM:615948
HP:0006483	Abnormal number of teeth	6228	RPS23	OMIM:617412
HP:0006483	Abnormal number of teeth	6938	TCF12	OMIM:619718
HP:0006483	Abnormal number of teeth	324	APC	OMIM:175100
HP:0006483	Abnormal number of teeth	324	APC	ORPHA:247806
HP:0006483	Abnormal number of teeth	324	APC	ORPHA:79665
HP:0006483	Abnormal number of teeth	2131	EXT1	ORPHA:502
HP:0006483	Abnormal number of teeth	7227	TRPS1	ORPHA:502
HP:0006483	Abnormal number of teeth	7227	TRPS1	OMIM:190351
HP:0006483	Abnormal number of teeth	7227	TRPS1	ORPHA:77258
HP:0006483	Abnormal number of teeth	23630	KCNE5	ORPHA:86818
HP:0006483	Abnormal number of teeth	2182	ACSL4	ORPHA:86818
HP:0006483	Abnormal number of teeth	9949	AMMECR1	ORPHA:86818
HP:0006483	Abnormal number of teeth	1387	CREBBP	ORPHA:353281
HP:0006483	Abnormal number of teeth	1387	CREBBP	ORPHA:353277
HP:0006483	Abnormal number of teeth	8481	OFD1	OMIM:311200
HP:0006483	Abnormal number of teeth	2542	SLC37A4	OMIM:619525
HP:0006483	Abnormal number of teeth	2033	EP300	ORPHA:353284
HP:0006483	Abnormal number of teeth	4488	MSX2	OMIM:604757
HP:0006483	Abnormal number of teeth	64359	NXN	ORPHA:1507
HP:0006483	Abnormal number of teeth	4920	ROR2	ORPHA:1507
HP:0006483	Abnormal number of teeth	1009	CDH11	OMIM:211380
HP:0006483	Abnormal number of teeth	2248	FGF3	ORPHA:90024
HP:0006483	Abnormal number of teeth	3339	HSPG2	ORPHA:800
HP:0006483	Abnormal number of teeth	3861	KRT14	ORPHA:69087
HP:0006483	Abnormal number of teeth	860	RUNX2	OMIM:119600
HP:0006483	Abnormal number of teeth	860	RUNX2	ORPHA:1452
HP:0006483	Abnormal number of teeth	51626	DYNC2LI1	OMIM:617088
HP:0006483	Abnormal number of teeth	3756	KCNH1	ORPHA:3473
HP:0006483	Abnormal number of teeth	3782	KCNN3	ORPHA:3473
HP:0006483	Abnormal number of teeth	9487	PIGL	ORPHA:3474
HP:0006483	Abnormal number of teeth	865	CBFB	OMIM:620099
HP:0006483	Abnormal number of teeth	5083	PAX9	OMIM:604625
HP:0006483	Abnormal number of teeth	83479	DDX59	ORPHA:2919
HP:0006483	Abnormal number of teeth	54101	RIPK4	ORPHA:1401
HP:0000674	Anodontia	128178	EDARADD	OMIM:129490
HP:0000674	Anodontia	128178	EDARADD	OMIM:224900
HP:0000674	Anodontia	10913	EDAR	OMIM:129490
HP:0000674	Anodontia	10913	EDAR	OMIM:224900
HP:0000674	Anodontia	57822	GRHL3	OMIM:606713
HP:0000674	Anodontia	80067	DCAF17	OMIM:241080
HP:0000674	Anodontia	80067	DCAF17	ORPHA:3464
HP:0000674	Anodontia	1857	DVL3	ORPHA:3107
HP:0000674	Anodontia	7474	WNT5A	ORPHA:3107
HP:0000674	Anodontia	1855	DVL1	ORPHA:3107
HP:0000674	Anodontia	2535	FZD2	ORPHA:3107
HP:0000674	Anodontia	5818	NECTIN1	OMIM:225060
HP:0000674	Anodontia	5818	NECTIN1	ORPHA:3253
HP:0000674	Anodontia	1896	EDA	OMIM:313500
HP:0000674	Anodontia	6197	RPS6KA3	ORPHA:276630
HP:0000674	Anodontia	2316	FLNA	ORPHA:90650
HP:0000674	Anodontia	2316	FLNA	ORPHA:90652
HP:0000674	Anodontia	55764	IFT122	OMIM:218330
HP:0000674	Anodontia	1161	ERCC8	ORPHA:90321
HP:0000674	Anodontia	1161	ERCC8	ORPHA:90322
HP:0000674	Anodontia	2072	ERCC4	ORPHA:90321
HP:0000674	Anodontia	2074	ERCC6	ORPHA:90321
HP:0000674	Anodontia	2074	ERCC6	ORPHA:90322
HP:0000674	Anodontia	2067	ERCC1	ORPHA:90322
HP:0006485	Agenesis of incisor	641	BLM	OMIM:210900
HP:0006485	Agenesis of incisor	2071	ERCC3	OMIM:616390
HP:0006485	Agenesis of incisor	8260	NAA10	OMIM:309800
HP:0006485	Agenesis of incisor	54880	BCOR	OMIM:309800
HP:0006485	Agenesis of incisor	2260	FGFR1	ORPHA:99798
HP:0006485	Agenesis of incisor	4487	MSX1	ORPHA:99798
HP:0006485	Agenesis of incisor	128178	EDARADD	ORPHA:99798
HP:0006485	Agenesis of incisor	5083	PAX9	ORPHA:99798
HP:0006485	Agenesis of incisor	7341	SUMO1	ORPHA:99798
HP:0006485	Agenesis of incisor	80326	WNT10A	ORPHA:99798
HP:0006485	Agenesis of incisor	1896	EDA	ORPHA:99798
HP:0006485	Agenesis of incisor	8313	AXIN2	ORPHA:99798
HP:0006485	Agenesis of incisor	3664	IRF6	ORPHA:99798
HP:0006485	Agenesis of incisor	4040	LRP6	ORPHA:99798
HP:0006485	Agenesis of incisor	7039	TGFA	ORPHA:99798
HP:0006485	Agenesis of incisor	7480	WNT10B	ORPHA:99798
HP:0006485	Agenesis of incisor	145173	B3GLCT	OMIM:261540
HP:0006485	Agenesis of incisor	4750	NEK1	ORPHA:2751
HP:0006485	Agenesis of incisor	9775	EIF4A3	OMIM:268305
HP:0006485	Agenesis of incisor	2736	GLI2	OMIM:610829
HP:0006485	Agenesis of incisor	1747	DLX3	ORPHA:3352
HP:0006485	Agenesis of incisor	9578	CDC42BPB	OMIM:619841
HP:0006485	Agenesis of incisor	1009	CDH11	OMIM:211380
HP:0006485	Agenesis of incisor	1748	DLX4	OMIM:616788
HP:0006485	Agenesis of incisor	1748	DLX4	ORPHA:199306
HP:0006485	Agenesis of incisor	5818	NECTIN1	ORPHA:199306
HP:0006485	Agenesis of incisor	1739	DLG1	ORPHA:199306
HP:0006485	Agenesis of incisor	652	BMP4	ORPHA:199306
HP:0006485	Agenesis of incisor	8626	TP63	ORPHA:199306
HP:0006485	Agenesis of incisor	999	CDH1	ORPHA:199306
HP:0006485	Agenesis of incisor	5156	PDGFRA	ORPHA:199306
HP:0006485	Agenesis of incisor	9411	ARHGAP29	ORPHA:199306
HP:0006485	Agenesis of incisor	54101	RIPK4	ORPHA:1401
HP:0006486	Abnormal dental root morphology	1896	EDA	OMIM:305100
HP:0006486	Abnormal dental root morphology	1896	EDA	ORPHA:99798
HP:0006486	Abnormal dental root morphology	64388	GREM2	OMIM:617275
HP:0006486	Abnormal dental root morphology	10117	ENAM	OMIM:204650
HP:0006486	Abnormal dental root morphology	2972	BRF1	OMIM:616202
HP:0006486	Abnormal dental root morphology	2972	BRF1	ORPHA:444072
HP:0006486	Abnormal dental root morphology	2591	GALNT3	OMIM:211900
HP:0006486	Abnormal dental root morphology	1107	CHD3	OMIM:618205
HP:0006486	Abnormal dental root morphology	4040	LRP6	OMIM:616724
HP:0006486	Abnormal dental root morphology	4040	LRP6	ORPHA:99798
HP:0006486	Abnormal dental root morphology	2248	FGF3	ORPHA:2791
HP:0006486	Abnormal dental root morphology	5189	PEX1	ORPHA:3220
HP:0006486	Abnormal dental root morphology	5190	PEX6	ORPHA:3220
HP:0006486	Abnormal dental root morphology	8626	TP63	OMIM:129400
HP:0006486	Abnormal dental root morphology	8626	TP63	ORPHA:1896
HP:0006486	Abnormal dental root morphology	4750	NEK1	ORPHA:2751
HP:0006486	Abnormal dental root morphology	2260	FGFR1	ORPHA:99798
HP:0006486	Abnormal dental root morphology	4487	MSX1	ORPHA:99798
HP:0006486	Abnormal dental root morphology	128178	EDARADD	ORPHA:99798
HP:0006486	Abnormal dental root morphology	5083	PAX9	ORPHA:99798
HP:0006486	Abnormal dental root morphology	7341	SUMO1	ORPHA:99798
HP:0006486	Abnormal dental root morphology	80326	WNT10A	ORPHA:99798
HP:0006486	Abnormal dental root morphology	8313	AXIN2	ORPHA:99798
HP:0006486	Abnormal dental root morphology	3664	IRF6	ORPHA:99798
HP:0006486	Abnormal dental root morphology	7039	TGFA	ORPHA:99798
HP:0006486	Abnormal dental root morphology	7480	WNT10B	ORPHA:99798
HP:0006486	Abnormal dental root morphology	2697	GJA1	ORPHA:2710
HP:0006486	Abnormal dental root morphology	2697	GJA1	OMIM:164200
HP:0006486	Abnormal dental root morphology	64094	SMOC2	OMIM:125400
HP:0006486	Abnormal dental root morphology	1747	DLX3	OMIM:190320
HP:0006486	Abnormal dental root morphology	1747	DLX3	ORPHA:3352
HP:0006486	Abnormal dental root morphology	1747	DLX3	OMIM:104510
HP:0006486	Abnormal dental root morphology	57728	WDR19	OMIM:614378
HP:0006486	Abnormal dental root morphology	57728	WDR19	ORPHA:1515
HP:0006486	Abnormal dental root morphology	80169	CTC1	ORPHA:1775
HP:0006486	Abnormal dental root morphology	26277	TINF2	ORPHA:1775
HP:0006486	Abnormal dental root morphology	55651	NHP2	ORPHA:1775
HP:0006486	Abnormal dental root morphology	79650	USB1	ORPHA:1775
HP:0006486	Abnormal dental root morphology	55135	WRAP53	ORPHA:1775
HP:0006486	Abnormal dental root morphology	51750	RTEL1	ORPHA:1775
HP:0006486	Abnormal dental root morphology	4869	NPM1	ORPHA:1775
HP:0006486	Abnormal dental root morphology	7012	TERC	ORPHA:1775
HP:0006486	Abnormal dental root morphology	55505	NOP10	ORPHA:1775
HP:0006486	Abnormal dental root morphology	5073	PARN	ORPHA:1775
HP:0006486	Abnormal dental root morphology	7015	TERT	ORPHA:1775
HP:0006486	Abnormal dental root morphology	1736	DKC1	ORPHA:1775
HP:0006486	Abnormal dental root morphology	7298	TYMS	ORPHA:1775
HP:0006486	Abnormal dental root morphology	2314	FLII	ORPHA:819
HP:0006486	Abnormal dental root morphology	23096	IQSEC2	ORPHA:819
HP:0006486	Abnormal dental root morphology	10743	RAI1	ORPHA:819
HP:0006486	Abnormal dental root morphology	10522	DEAF1	ORPHA:819
HP:0006486	Abnormal dental root morphology	3914	LAMB3	OMIM:104530
HP:0006486	Abnormal dental root morphology	57539	WDR35	ORPHA:1515
HP:0006486	Abnormal dental root morphology	112752	IFT43	ORPHA:1515
HP:0006486	Abnormal dental root morphology	51098	IFT52	ORPHA:1515
HP:0006486	Abnormal dental root morphology	55764	IFT122	ORPHA:1515
HP:0006486	Abnormal dental root morphology	4952	OCRL	ORPHA:534
HP:0006486	Abnormal dental root morphology	64135	IFIH1	OMIM:182250
HP:0006486	Abnormal dental root morphology	1009	CDH11	ORPHA:1299
HP:0006486	Abnormal dental root morphology	54880	BCOR	OMIM:300166
HP:0006486	Abnormal dental root morphology	4796	TONSL	ORPHA:93357
HP:0006488	Bowing of the arm	2737	GLI3	ORPHA:672
HP:0006488	Bowing of the arm	4920	ROR2	OMIM:268310
HP:0006488	Bowing of the arm	4882	NPR2	OMIM:602875
HP:0006488	Bowing of the arm	1280	COL2A1	OMIM:151210
HP:0006488	Bowing of the arm	7476	WNT7A	OMIM:228930
HP:0006488	Bowing of the arm	7476	WNT7A	ORPHA:2879
HP:0006488	Bowing of the arm	7476	WNT7A	OMIM:276820
HP:0006488	Bowing of the arm	8074	FGF23	OMIM:617993
HP:0006488	Bowing of the arm	8200	GDF5	OMIM:201250
HP:0006488	Bowing of the arm	2317	FLNB	OMIM:108721
HP:0006488	Bowing of the arm	2317	FLNB	OMIM:108720
HP:0006488	Bowing of the arm	59341	TRPV4	ORPHA:93314
HP:0006488	Bowing of the arm	91147	TMEM67	OMIM:602152
HP:0006488	Bowing of the arm	3549	IHH	OMIM:607778
HP:0006488	Bowing of the arm	567	B2M	OMIM:241600
HP:0006488	Bowing of the arm	3930	LBR	OMIM:618019
HP:0006488	Bowing of the arm	64175	P3H1	OMIM:610915
HP:0006488	Bowing of the arm	126792	B3GALT6	OMIM:271640
HP:0006488	Bowing of the arm	4322	MMP13	OMIM:602111
HP:0006488	Bowing of the arm	9401	RECQL4	OMIM:218600
HP:0006488	Bowing of the arm	6473	SHOX	ORPHA:240
HP:0006488	Bowing of the arm	1301	COL11A1	OMIM:154780
HP:0006488	Bowing of the arm	57020	VPS35L	OMIM:619135
HP:0006488	Bowing of the arm	5447	POR	OMIM:201750
HP:0006488	Bowing of the arm	5447	POR	OMIM:207410
HP:0006488	Bowing of the arm	91179	SCARF2	OMIM:600920
HP:0006488	Bowing of the arm	54101	RIPK4	OMIM:263650
HP:0006488	Bowing of the arm	112752	IFT43	OMIM:617866
HP:0006488	Bowing of the arm	9469	CHST3	OMIM:143095
HP:0006488	Bowing of the arm	1836	SLC26A2	ORPHA:93307
HP:0006488	Bowing of the arm	2263	FGFR2	OMIM:207410
HP:0006488	Bowing of the arm	2261	FGFR3	OMIM:100800
HP:0006488	Bowing of the arm	5593	PRKG2	OMIM:619636
HP:0006488	Bowing of the arm	5116	PCNT	OMIM:210720
HP:0006488	Bowing of the arm	2316	FLNA	OMIM:304120
HP:0006488	Bowing of the arm	9939	RBM8A	OMIM:274000
HP:0006488	Bowing of the arm	3207	HOXA11	OMIM:605432
HP:0006488	Bowing of the arm	3911	LAMA5	OMIM:620076
HP:0006488	Bowing of the arm	100151683	RNU4ATAC	OMIM:210710
HP:0006488	Bowing of the arm	6678	SPARC	OMIM:616507
HP:0006488	Bowing of the arm	9851	KIAA0753	OMIM:619479
HP:0006488	Bowing of the arm	340419	RSPO2	OMIM:618022
HP:0006488	Bowing of the arm	22858	CILK1	OMIM:612651
HP:0006488	Bowing of the arm	51360	MBTPS2	OMIM:301014
HP:0006488	Bowing of the arm	9321	TRIP11	OMIM:200600
HP:0006488	Bowing of the arm	11014	KDELR2	OMIM:619131
HP:0006488	Bowing of the arm	121340	SP7	OMIM:613849
HP:0006489	Abnormal femoral metaphysis morphology	1311	COMP	OMIM:177170
HP:0006489	Abnormal femoral metaphysis morphology	1302	COL11A2	ORPHA:1427
HP:0006489	Abnormal femoral metaphysis morphology	59341	TRPV4	OMIM:113500
HP:0006489	Abnormal femoral metaphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006489	Abnormal femoral metaphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006489	Abnormal femoral metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0006489	Abnormal femoral metaphysis morphology	755	CFAP410	OMIM:602271
HP:0006489	Abnormal femoral metaphysis morphology	51119	SBDS	OMIM:260400
HP:0006489	Abnormal femoral metaphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006489	Abnormal femoral metaphysis morphology	6729	SRP54	OMIM:260400
HP:0006489	Abnormal femoral metaphysis morphology	51025	PAM16	OMIM:613320
HP:0006489	Abnormal femoral metaphysis morphology	2146	EZH2	OMIM:277590
HP:0006489	Abnormal femoral metaphysis morphology	649	BMP1	OMIM:614856
HP:0006489	Abnormal femoral metaphysis morphology	26040	SETBP1	OMIM:269150
HP:0006489	Abnormal femoral metaphysis morphology	2261	FGFR3	OMIM:610474
HP:0006489	Abnormal femoral metaphysis morphology	9321	TRIP11	OMIM:200600
HP:0006489	Abnormal femoral metaphysis morphology	5921	RASA1	ORPHA:90307
HP:0006489	Abnormal femoral metaphysis morphology	7157	TP53	ORPHA:668
HP:0006489	Abnormal femoral metaphysis morphology	5925	RB1	ORPHA:668
HP:0006489	Abnormal femoral metaphysis morphology	11200	CHEK2	ORPHA:668
HP:0006489	Abnormal femoral metaphysis morphology	55325	UFSP2	OMIM:142669
HP:0030878	Abnormality on pulmonary function testing	4921	DDR2	OMIM:271665
HP:0030878	Abnormality on pulmonary function testing	1756	DMD	OMIM:310200
HP:0030878	Abnormality on pulmonary function testing	755	CFAP410	OMIM:602271
HP:0030878	Abnormality on pulmonary function testing	1736	DKC1	OMIM:305000
HP:0030878	Abnormality on pulmonary function testing	1776	DNASE1L3	ORPHA:36412
HP:0030878	Abnormality on pulmonary function testing	411	ARSB	OMIM:253200
HP:0030878	Abnormality on pulmonary function testing	4568	MT-TL2	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4567	MT-TL1	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4570	MT-TN	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4574	MT-TS1	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	100151683	RNU4ATAC	OMIM:226960
HP:0030878	Abnormality on pulmonary function testing	84466	MEGF10	OMIM:614399
HP:0030878	Abnormality on pulmonary function testing	7248	TSC1	ORPHA:538
HP:0030878	Abnormality on pulmonary function testing	7249	TSC2	ORPHA:538
HP:0030878	Abnormality on pulmonary function testing	79158	GNPTAB	ORPHA:576
HP:0030878	Abnormality on pulmonary function testing	114548	NLRP3	ORPHA:575
HP:0030878	Abnormality on pulmonary function testing	3106	HLA-B	ORPHA:36426
HP:0030878	Abnormality on pulmonary function testing	10320	IKZF1	ORPHA:36426
HP:0030878	Abnormality on pulmonary function testing	54	ACP5	OMIM:607944
HP:0030878	Abnormality on pulmonary function testing	2483	FRG1	OMIM:158900
HP:0030878	Abnormality on pulmonary function testing	1439	CSF2RB	ORPHA:264675
HP:0030878	Abnormality on pulmonary function testing	23345	SYNE1	OMIM:618484
HP:0030878	Abnormality on pulmonary function testing	8260	NAA10	OMIM:300855
HP:0030878	Abnormality on pulmonary function testing	3423	IDS	ORPHA:217085
HP:0030878	Abnormality on pulmonary function testing	3423	IDS	ORPHA:217093
HP:0030878	Abnormality on pulmonary function testing	56244	BTNL2	OMIM:612387
HP:0030878	Abnormality on pulmonary function testing	6445	SGCG	OMIM:253700
HP:0030878	Abnormality on pulmonary function testing	5351	PLOD1	ORPHA:1900
HP:0030878	Abnormality on pulmonary function testing	2261	FGFR3	ORPHA:15
HP:0030878	Abnormality on pulmonary function testing	80324	PUS1	OMIM:600462
HP:0030878	Abnormality on pulmonary function testing	2720	GLB1	OMIM:253010
HP:0030878	Abnormality on pulmonary function testing	23495	TNFRSF13B	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	4790	NFKB1	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	4791	NFKB2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	115650	TNFRSF13C	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	1380	CR2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	8742	TNFSF12	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	5580	PRKCD	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	930	CD19	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	29851	ICOS	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	931	MS4A1	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	975	CD81	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	359948	IRF2BP2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	1280	COL2A1	OMIM:183900
HP:0030878	Abnormality on pulmonary function testing	374393	FAM111B	OMIM:615704
HP:0030878	Abnormality on pulmonary function testing	10755	GIPC1	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	100996717	NOTCH2NLC	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	10568	SLC34A2	OMIM:265100
HP:0030878	Abnormality on pulmonary function testing	10568	SLC34A2	ORPHA:60025
HP:0030878	Abnormality on pulmonary function testing	7840	ALMS1	ORPHA:64
HP:0030878	Abnormality on pulmonary function testing	2588	GALNS	OMIM:253000
HP:0030878	Abnormality on pulmonary function testing	1861	TOR1A	OMIM:618947
HP:0030878	Abnormality on pulmonary function testing	400916	CHCHD10	ORPHA:457050
HP:0030878	Abnormality on pulmonary function testing	3257	HPS1	OMIM:203300
HP:0030878	Abnormality on pulmonary function testing	1493	CTLA4	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	26191	PTPN22	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	5657	PRTN3	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	3113	HLA-DPA1	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	283446	MYO1H	OMIM:619482
HP:0030878	Abnormality on pulmonary function testing	89781	HPS4	OMIM:614073
HP:0030878	Abnormality on pulmonary function testing	6117	RPA1	OMIM:619767
HP:0030878	Abnormality on pulmonary function testing	388015	RTL1	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	8788	DLK1	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	55384	MEG3	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	145873	MESP2	OMIM:608681
HP:0030878	Abnormality on pulmonary function testing	23299	BICD2	OMIM:615290
HP:0030878	Abnormality on pulmonary function testing	126792	B3GALT6	ORPHA:536467
HP:0030878	Abnormality on pulmonary function testing	2193	FARSA	OMIM:619013
HP:0030878	Abnormality on pulmonary function testing	2317	FLNB	OMIM:272460
HP:0030878	Abnormality on pulmonary function testing	60684	TRAPPC11	ORPHA:369840
HP:0030878	Abnormality on pulmonary function testing	60684	TRAPPC11	ORPHA:369847
HP:0030878	Abnormality on pulmonary function testing	57728	WDR19	OMIM:614376
HP:0030878	Abnormality on pulmonary function testing	54332	GDAP1	ORPHA:99948
HP:0030878	Abnormality on pulmonary function testing	165918	RNF168	ORPHA:420741
HP:0030878	Abnormality on pulmonary function testing	7080	NKX2-1	OMIM:610978
HP:0030878	Abnormality on pulmonary function testing	246329	STAC3	OMIM:255995
HP:0030878	Abnormality on pulmonary function testing	9990	SLC12A6	OMIM:218000
HP:0030878	Abnormality on pulmonary function testing	9499	MYOT	ORPHA:266
HP:0030878	Abnormality on pulmonary function testing	7273	TTN	OMIM:603689
HP:0030878	Abnormality on pulmonary function testing	7273	TTN	ORPHA:178464
HP:0030878	Abnormality on pulmonary function testing	88	ACTN2	OMIM:618654
HP:0030878	Abnormality on pulmonary function testing	51776	MAP3K20	OMIM:617760
HP:0030878	Abnormality on pulmonary function testing	7415	VCP	ORPHA:329478
HP:0030878	Abnormality on pulmonary function testing	7169	TPM2	OMIM:609285
HP:0030878	Abnormality on pulmonary function testing	7169	TPM2	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	84665	MYPN	OMIM:617336
HP:0030878	Abnormality on pulmonary function testing	84665	MYPN	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	79912	PYROXD1	OMIM:617258
HP:0030878	Abnormality on pulmonary function testing	390594	KBTBD13	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	4703	NEB	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	10324	KLHL41	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	81846	SBF2	ORPHA:99956
HP:0030878	Abnormality on pulmonary function testing	4625	MYH7	OMIM:608358
HP:0030878	Abnormality on pulmonary function testing	6329	SCN4A	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1134	CHRNA1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	4038	LRP4	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1305	COL13A1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1140	CHRNB1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1144	CHRND	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1145	CHRNE	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	4593	MUSK	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	5913	RAPSN	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	375790	AGRN	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	221264	AK9	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	285489	DOK7	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	285489	DOK7	OMIM:254300
HP:0030878	Abnormality on pulmonary function testing	8701	DNAH11	OMIM:611884
HP:0030878	Abnormality on pulmonary function testing	2022	ENG	OMIM:187300
HP:0030878	Abnormality on pulmonary function testing	6340	SCNN1G	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	6337	SCNN1A	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	6338	SCNN1B	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	3115	HLA-DPB1	ORPHA:133
HP:0030878	Abnormality on pulmonary function testing	57190	SELENON	ORPHA:97244
HP:0030878	Abnormality on pulmonary function testing	58	ACTA1	ORPHA:97244
HP:0030878	Abnormality on pulmonary function testing	8314	BAP1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	4771	NF2	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6598	SMARCB1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	5155	PDGFB	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	84231	TRAF7	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6608	SMO	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	207	AKT1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	5290	PIK3CA	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	7015	TERT	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	51684	SUFU	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6605	SMARCE1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	7125	TNNC2	OMIM:620161
HP:0030878	Abnormality on pulmonary function testing	152110	NEK10	OMIM:618781
HP:0030878	Abnormality on pulmonary function testing	146862	UNC45B	OMIM:619178
HP:0030878	Abnormality on pulmonary function testing	56983	POGLUT1	OMIM:617232
HP:0030878	Abnormality on pulmonary function testing	9453	GGPS1	OMIM:619518
HP:0030878	Abnormality on pulmonary function testing	27148	STK36	OMIM:619436
HP:0030878	Abnormality on pulmonary function testing	29967	LRP12	OMIM:164310
HP:0030878	Abnormality on pulmonary function testing	1292	COL6A2	OMIM:255600
HP:0030878	Abnormality on pulmonary function testing	9325	TRIP4	OMIM:617066
HP:0030878	Abnormality on pulmonary function testing	345643	MCIDAS	OMIM:618695
HP:0030878	Abnormality on pulmonary function testing	3714	JAG2	OMIM:619566
HP:0030878	Abnormality on pulmonary function testing	729920	CRPPA	OMIM:616052
HP:0030878	Abnormality on pulmonary function testing	127833	SYT2	OMIM:619461
HP:0030878	Abnormality on pulmonary function testing	7170	TPM3	OMIM:255310
HP:0030878	Abnormality on pulmonary function testing	84667	HES7	OMIM:613686
HP:0030878	Abnormality on pulmonary function testing	89874	SLC25A21	OMIM:618811
HP:0030878	Abnormality on pulmonary function testing	9531	BAG3	OMIM:612954
HP:0030878	Abnormality on pulmonary function testing	79147	FKRP	OMIM:607155
HP:0030878	Abnormality on pulmonary function testing	6804	STX1A	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	2947	GSTM3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	2729	GCLC	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1084	CEACAM3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	6556	SLC11A1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	51164	DCTN4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3783	KCNN4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	4282	MIF	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1909	EDNRA	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	6550	SLC9A3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3162	HMOX1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	115019	SLC26A9	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3077	HFE	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	11254	SLC6A14	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	5265	SERPINA1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	22802	CLCA4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	4680	CEACAM6	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1770	DNAH9	OMIM:618300
HP:0030878	Abnormality on pulmonary function testing	63895	PIEZO2	OMIM:108145
HP:0030878	Abnormality on pulmonary function testing	83737	ITCH	OMIM:613385
HP:0030878	Abnormality on pulmonary function testing	2212	FCGR2A	OMIM:219700
HP:0030878	Abnormality on pulmonary function testing	7040	TGFB1	OMIM:219700
HP:0030878	Abnormality on pulmonary function testing	1080	CFTR	OMIM:219700
HP:0030878	Abnormality on pulmonary function testing	26092	TOR1AIP1	OMIM:617072
HP:0030878	Abnormality on pulmonary function testing	6609	SMPD1	OMIM:607616
HP:0030878	Abnormality on pulmonary function testing	440275	EIF2AK4	ORPHA:199241
HP:0030878	Abnormality on pulmonary function testing	440275	EIF2AK4	OMIM:234810
HP:0030878	Abnormality on pulmonary function testing	1438	CSF2RA	OMIM:300770
HP:0030878	Abnormality on pulmonary function testing	51750	RTEL1	OMIM:616373
HP:0030878	Abnormality on pulmonary function testing	5073	PARN	OMIM:616371
HP:0030878	Abnormality on pulmonary function testing	6440	SFTPC	OMIM:178500
HP:0030878	Abnormality on pulmonary function testing	6440	SFTPC	OMIM:610913
HP:0030878	Abnormality on pulmonary function testing	727897	MUC5B	OMIM:178500
HP:0030878	Abnormality on pulmonary function testing	729238	SFTPA2	OMIM:178500
HP:0030878	Abnormality on pulmonary function testing	64131	XYLT1	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	64132	XYLT2	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	368	ABCC6	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	653509	SFTPA1	OMIM:619611
HP:0030878	Abnormality on pulmonary function testing	26277	TINF2	OMIM:613990
HP:0030878	Abnormality on pulmonary function testing	1314	COPA	OMIM:616414
HP:0030878	Abnormality on pulmonary function testing	137682	NDUFAF6	OMIM:618913
HP:0030878	Abnormality on pulmonary function testing	3123	HLA-DRB1	ORPHA:747
HP:0032341	Reduced forced vital capacity	7125	TNNC2	OMIM:620161
HP:0032341	Reduced forced vital capacity	2212	FCGR2A	OMIM:219700
HP:0032341	Reduced forced vital capacity	7040	TGFB1	OMIM:219700
HP:0032341	Reduced forced vital capacity	1080	CFTR	OMIM:219700
HP:0032341	Reduced forced vital capacity	1438	CSF2RA	OMIM:300770
HP:0032341	Reduced forced vital capacity	152110	NEK10	OMIM:618781
HP:0032341	Reduced forced vital capacity	146862	UNC45B	OMIM:619178
HP:0032341	Reduced forced vital capacity	56983	POGLUT1	OMIM:617232
HP:0032341	Reduced forced vital capacity	9453	GGPS1	OMIM:619518
HP:0032341	Reduced forced vital capacity	27148	STK36	OMIM:619436
HP:0032341	Reduced forced vital capacity	29967	LRP12	OMIM:164310
HP:0032341	Reduced forced vital capacity	1292	COL6A2	OMIM:255600
HP:0032341	Reduced forced vital capacity	51750	RTEL1	OMIM:616373
HP:0032341	Reduced forced vital capacity	9325	TRIP4	OMIM:617066
HP:0032341	Reduced forced vital capacity	345643	MCIDAS	OMIM:618695
HP:0032341	Reduced forced vital capacity	5073	PARN	OMIM:616371
HP:0032341	Reduced forced vital capacity	3714	JAG2	OMIM:619566
HP:0032341	Reduced forced vital capacity	729920	CRPPA	OMIM:616052
HP:0032341	Reduced forced vital capacity	127833	SYT2	OMIM:619461
HP:0032341	Reduced forced vital capacity	7170	TPM3	OMIM:255310
HP:0032341	Reduced forced vital capacity	84667	HES7	OMIM:613686
HP:0032341	Reduced forced vital capacity	89874	SLC25A21	OMIM:618811
HP:0032341	Reduced forced vital capacity	9531	BAG3	OMIM:612954
HP:0032341	Reduced forced vital capacity	6440	SFTPC	OMIM:610913
HP:0032341	Reduced forced vital capacity	79147	FKRP	OMIM:607155
HP:0032342	Reduced forced expiratory volume in one second	84667	HES7	OMIM:613686
HP:0032342	Reduced forced expiratory volume in one second	6804	STX1A	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	2947	GSTM3	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	7040	TGFB1	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	7040	TGFB1	OMIM:219700
HP:0032342	Reduced forced expiratory volume in one second	2729	GCLC	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	1084	CEACAM3	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	6556	SLC11A1	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	51164	DCTN4	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	3783	KCNN4	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	4282	MIF	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	1909	EDNRA	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	6550	SLC9A3	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	3162	HMOX1	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	115019	SLC26A9	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	3077	HFE	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	11254	SLC6A14	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	5265	SERPINA1	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	1080	CFTR	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	1080	CFTR	OMIM:219700
HP:0032342	Reduced forced expiratory volume in one second	22802	CLCA4	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	4680	CEACAM6	ORPHA:586
HP:0032342	Reduced forced expiratory volume in one second	27148	STK36	OMIM:619436
HP:0032342	Reduced forced expiratory volume in one second	2212	FCGR2A	OMIM:219700
HP:0032342	Reduced forced expiratory volume in one second	1438	CSF2RA	OMIM:300770
HP:0032342	Reduced forced expiratory volume in one second	51750	RTEL1	OMIM:616373
HP:0032342	Reduced forced expiratory volume in one second	1770	DNAH9	OMIM:618300
HP:0032342	Reduced forced expiratory volume in one second	5073	PARN	OMIM:616371
HP:0032342	Reduced forced expiratory volume in one second	63895	PIEZO2	OMIM:108145
HP:0032342	Reduced forced expiratory volume in one second	83737	ITCH	OMIM:613385
HP:0032342	Reduced forced expiratory volume in one second	152110	NEK10	OMIM:618781
HP:0006490	Abnormal lower-limb metaphysis morphology	1311	COMP	OMIM:177170
HP:0006490	Abnormal lower-limb metaphysis morphology	1302	COL11A2	ORPHA:1427
HP:0006490	Abnormal lower-limb metaphysis morphology	59341	TRPV4	OMIM:113500
HP:0006490	Abnormal lower-limb metaphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006490	Abnormal lower-limb metaphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006490	Abnormal lower-limb metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0006490	Abnormal lower-limb metaphysis morphology	755	CFAP410	OMIM:602271
HP:0006490	Abnormal lower-limb metaphysis morphology	51119	SBDS	OMIM:260400
HP:0006490	Abnormal lower-limb metaphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006490	Abnormal lower-limb metaphysis morphology	6729	SRP54	OMIM:260400
HP:0006490	Abnormal lower-limb metaphysis morphology	51025	PAM16	OMIM:613320
HP:0006490	Abnormal lower-limb metaphysis morphology	2146	EZH2	OMIM:277590
HP:0006490	Abnormal lower-limb metaphysis morphology	649	BMP1	OMIM:614856
HP:0006490	Abnormal lower-limb metaphysis morphology	26040	SETBP1	OMIM:269150
HP:0006490	Abnormal lower-limb metaphysis morphology	2261	FGFR3	OMIM:610474
HP:0006490	Abnormal lower-limb metaphysis morphology	9131	AIFM1	OMIM:300232
HP:0006490	Abnormal lower-limb metaphysis morphology	9321	TRIP11	OMIM:200600
HP:0006490	Abnormal lower-limb metaphysis morphology	5921	RASA1	ORPHA:90307
HP:0006490	Abnormal lower-limb metaphysis morphology	5251	PHEX	ORPHA:89936
HP:0006490	Abnormal lower-limb metaphysis morphology	7157	TP53	ORPHA:668
HP:0006490	Abnormal lower-limb metaphysis morphology	5925	RB1	ORPHA:668
HP:0006490	Abnormal lower-limb metaphysis morphology	11200	CHEK2	ORPHA:668
HP:0006490	Abnormal lower-limb metaphysis morphology	55325	UFSP2	OMIM:142669
HP:0032344	Upslanting toenail	2324	FLT4	OMIM:153100
HP:0032346	Cutaneous lichen amyloidosis	5979	RET	OMIM:171400
HP:0032347	Cutaneous macular amyloidosis	22861	NLRP1	OMIM:615225
HP:0006491	Abnormal tibial metaphysis morphology	9131	AIFM1	OMIM:300232
HP:0006491	Abnormal tibial metaphysis morphology	7157	TP53	ORPHA:668
HP:0006491	Abnormal tibial metaphysis morphology	5925	RB1	ORPHA:668
HP:0006491	Abnormal tibial metaphysis morphology	11200	CHEK2	ORPHA:668
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8243	SMC1A	OMIM:300590
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8243	SMC1A	OMIM:301044
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8243	SMC1A	ORPHA:3095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8243	SMC1A	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	388015	RTL1	ORPHA:254531
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	388015	RTL1	ORPHA:254525
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	388015	RTL1	ORPHA:96184
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8788	DLK1	ORPHA:254531
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8788	DLK1	ORPHA:254525
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8788	DLK1	ORPHA:96184
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55384	MEG3	ORPHA:254531
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55384	MEG3	ORPHA:254525
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55384	MEG3	ORPHA:96184
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23111	SPART	OMIM:275900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8450	CUL4B	OMIM:300354
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8450	CUL4B	ORPHA:85293
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2245	FGD1	OMIM:305400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2245	FGD1	ORPHA:915
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	26235	FBXL4	OMIM:615471
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	22856	CHSY1	ORPHA:363417
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	124997	WDR81	OMIM:610185
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5648	MASP1	OMIM:257920
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23314	SATB2	ORPHA:251028
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23314	SATB2	ORPHA:576283
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7681	MKRN3	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3653	IPW	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	ORPHA:177904
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	ORPHA:177901
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	ORPHA:398069
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	ORPHA:177910
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	OMIM:615547
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54551	MAGEL2	ORPHA:98754
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	791114	PWRN1	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	100033413	SNORD116-1	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8924	HERC2	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	145624	PWAR1	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23742	NPAP1	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	338433	SNORD115-1	OMIM:176270
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6792	CDKL5	ORPHA:3095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6792	CDKL5	OMIM:300672
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	22854	NTNG1	ORPHA:3095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9568	GABBR2	ORPHA:3095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9568	GABBR2	OMIM:617903
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4204	MECP2	ORPHA:3095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4204	MECP2	OMIM:300260
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4204	MECP2	OMIM:312750
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55869	HDAC8	OMIM:300882
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55869	HDAC8	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55869	HDAC8	ORPHA:3459
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55112	DYNC2I1	ORPHA:93271
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55112	DYNC2I1	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57560	IFT80	ORPHA:93271
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57560	IFT80	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57560	IFT80	OMIM:611263
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57539	WDR35	ORPHA:93271
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	89891	DYNC2I2	ORPHA:93271
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	89891	DYNC2I2	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1062	CENPE	OMIM:616051
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6651	SON	OMIM:617140
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23030	KDM4B	OMIM:619320
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6905	TBCE	ORPHA:2323
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6905	TBCE	OMIM:241410
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6905	TBCE	OMIM:244460
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6905	TBCE	ORPHA:93324
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6492	SIM1	ORPHA:398079
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9382	COG1	OMIM:611209
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9126	SMC3	OMIM:610759
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9126	SMC3	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3549	IHH	ORPHA:93388
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55777	MBD5	OMIM:156200
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6638	SNRPN	ORPHA:177904
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6638	SNRPN	ORPHA:177901
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6638	SNRPN	ORPHA:177910
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6638	SNRPN	ORPHA:177907
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6638	SNRPN	ORPHA:98754
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4692	NDN	ORPHA:177904
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4692	NDN	ORPHA:177901
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4692	NDN	ORPHA:177910
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4692	NDN	ORPHA:98754
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4948	OCA2	ORPHA:177904
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4948	OCA2	ORPHA:177901
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4948	OCA2	ORPHA:98754
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2263	FGFR2	ORPHA:93260
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2263	FGFR2	ORPHA:93258
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2263	FGFR2	ORPHA:93259
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2590	GALNT2	OMIM:618885
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	818	CAMK2G	OMIM:618522
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	80204	FBXO11	OMIM:618089
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1778	DYNC1H1	OMIM:614563
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3064	HTT	OMIM:617435
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10381	TUBB3	ORPHA:300570
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	84100	ARL6	OMIM:209900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79140	CCDC28B	OMIM:209900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	582	BBS1	OMIM:209900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3759	KCNJ2	OMIM:170390
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3759	KCNJ2	ORPHA:37553
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2260	FGFR1	ORPHA:93258
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2260	FGFR1	OMIM:166250
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6045	RNF2	OMIM:619460
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7319	UBE2A	OMIM:300860
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7319	UBE2A	ORPHA:163956
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10943	MSL3	OMIM:301032
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10087	CERT1	OMIM:616351
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	633	BGN	OMIM:300106
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6885	MAP3K7	OMIM:157800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6304	SATB1	OMIM:619229
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	25942	SIN3A	OMIM:613406
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23476	BRD4	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	25836	NIPBL	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5885	RAD21	ORPHA:199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	26160	IFT172	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51626	DYNC2LI1	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57728	WDR19	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57728	WDR19	OMIM:614376
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79809	TTC21B	ORPHA:474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54888	NSUN2	ORPHA:235
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55768	NGLY1	OMIM:615273
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7874	USP7	ORPHA:500055
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8493	PPM1D	OMIM:617450
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57003	CCDC47	OMIM:618268
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2200	FBN1	OMIM:614185
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2200	FBN1	OMIM:102370
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8239	USP9X	ORPHA:480880
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8239	USP9X	OMIM:300968
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9894	TELO2	ORPHA:488642
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10013	HDAC6	ORPHA:163966
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8364	H4C3	OMIM:619758
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5590	PRKCZ	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2563	GABRD	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23013	SPEN	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8510	MMP23B	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7798	LUZP1	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6497	SKI	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10630	PDPN	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3339	HSPG2	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10277	UBE4B	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8514	KCNAB2	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	473	RERE	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	63976	PRDM16	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54897	CASZ1	ORPHA:1606
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9719	ADAMTSL2	OMIM:231050
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4796	TONSL	ORPHA:93357
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55343	SLC35C1	OMIM:266265
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10236	HNRNPR	OMIM:620073
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23556	PIGN	ORPHA:280633
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7750	ZMYM2	OMIM:619522
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3800	KIF5C	OMIM:615282
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5159	PDGFRB	OMIM:601812
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	81887	LAS1L	ORPHA:3459
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	81887	LAS1L	OMIM:309585
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8242	KDM5C	OMIM:300534
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23162	MAPK8IP3	OMIM:618443
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2332	FMR1	ORPHA:261483
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9321	TRIP11	ORPHA:93299
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	147372	CCBE1	OMIM:235510
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9130	FAM50A	OMIM:300261
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1513	CTSK	ORPHA:763
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8295	TRRAP	OMIM:618454
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7227	TRPS1	OMIM:190351
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	25886	POC1A	OMIM:614813
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3480	IGF1R	OMIM:270450
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3762	KCNJ5	ORPHA:37553
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1281	COL3A1	ORPHA:2500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4054	LTBP3	OMIM:617809
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10075	HUWE1	OMIM:309590
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	242	ALOX12B	OMIM:242100
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	59344	ALOXE3	OMIM:242100
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1280	COL2A1	OMIM:271700
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1280	COL2A1	OMIM:609162
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5573	PRKAR1A	ORPHA:950
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5573	PRKAR1A	ORPHA:280651
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5144	PDE4D	ORPHA:950
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5144	PDE4D	ORPHA:280651
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5144	PDE4D	ORPHA:439822
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7840	ALMS1	ORPHA:64
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4882	NPR2	OMIM:602875
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	145173	B3GLCT	OMIM:261540
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	145173	B3GLCT	ORPHA:709
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5593	PRKG2	OMIM:619636
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	100151683	RNU4ATAC	ORPHA:353298
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	100151683	RNU4ATAC	OMIM:616651
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6023	RMRP	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6023	RMRP	OMIM:607095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3981	LIG4	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5896	RAG1	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5897	RAG2	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64421	DCLRE1C	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	100	ADA	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3575	IL7R	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3561	IL2RG	ORPHA:39041
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1788	DNMT3A	ORPHA:404443
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2261	FGFR3	ORPHA:429
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55027	HEATR3	OMIM:620072
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79718	TBL1XR1	OMIM:602342
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79718	TBL1XR1	ORPHA:487825
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2316	FLNA	OMIM:300244
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4089	SMAD4	OMIM:139210
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54928	BPNT2	OMIM:614078
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23426	GRIP1	OMIM:617667
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7140	TNNT3	OMIM:618435
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	25782	RAB3GAP2	OMIM:212720
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23384	SPECC1L	ORPHA:1519
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4297	KMT2A	OMIM:605130
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55650	PIGV	OMIM:239300
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	427	ASAH1	ORPHA:333
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2239	GPC4	ORPHA:373
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2719	GPC3	ORPHA:373
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3039	HBA1	ORPHA:98791
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3040	HBA2	ORPHA:98791
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	84295	PHF6	OMIM:301900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	84295	PHF6	ORPHA:127
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23483	TGDS	OMIM:616145
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	650	BMP2	OMIM:617877
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8481	OFD1	ORPHA:2750
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55764	IFT122	OMIM:218330
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	50945	TBX22	ORPHA:921
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5745	PTH1R	ORPHA:79106
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1717	DHCR7	OMIM:270400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	171023	ASXL1	OMIM:605039
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55697	VAC14	ORPHA:3472
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9509	ADAMTS2	OMIM:225410
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9742	IFT140	OMIM:266920
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	375056	MIA3	OMIM:619269
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57178	ZMIZ1	OMIM:618659
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4613	MYCN	OMIM:164280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2697	GJA1	ORPHA:93404
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4853	NOTCH2	ORPHA:955
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2313	FLI1	ORPHA:2308
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2690	GHR	ORPHA:633
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2879	GPX4	OMIM:250220
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64840	PORCN	OMIM:305600
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7480	WNT10B	OMIM:225300
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10262	SF3B4	OMIM:154400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54567	DLL4	OMIM:616589
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64093	SMOC1	OMIM:206920
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64093	SMOC1	ORPHA:1106
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1749	DLX5	OMIM:183600
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4038	LRP4	ORPHA:3258
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	324	APC	ORPHA:3258
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2737	GLI3	ORPHA:93322
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5281	PIGF	OMIM:619356
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9241	NOG	ORPHA:140908
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	415	ARSL	ORPHA:79345
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3756	KCNH1	OMIM:135500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3209	HOXA13	OMIM:176305
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3209	HOXA13	OMIM:140000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	113246	C12orf57	OMIM:218340
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8200	GDF5	OMIM:200700
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	65250	CPLANE1	OMIM:277170
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2317	FLNB	OMIM:108720
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2317	FLNB	ORPHA:56305
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2317	FLNB	OMIM:112310
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6913	TBX15	OMIM:260660
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	139285	AMER1	OMIM:300373
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2535	FZD2	OMIM:164745
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	153241	CEP120	OMIM:616300
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3899	AFF3	OMIM:619297
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10082	GPC6	OMIM:258315
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3636	INPPL1	ORPHA:3144
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23169	SLC35D1	ORPHA:3144
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	27125	AFF4	ORPHA:444077
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9775	EIF4A3	OMIM:268305
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1301	COL11A1	OMIM:228520
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	27152	INTU	OMIM:617925
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4233	MET	OMIM:607278
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10804	GJB6	ORPHA:477
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2706	GJB2	ORPHA:477
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4010	LMX1B	ORPHA:2614
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4010	LMX1B	OMIM:161200
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4010	LMX1B	ORPHA:495818
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9401	RECQL4	ORPHA:221016
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9401	RECQL4	OMIM:218600
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9496	TBX4	OMIM:147891
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9496	TBX4	ORPHA:261279
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5307	PITX1	OMIM:119800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55148	UBR7	OMIM:619189
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6812	STXBP1	ORPHA:495818
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	29980	DONSON	OMIM:617604
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6662	SOX9	OMIM:114290
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23594	ORC6	OMIM:613803
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64682	ANAPC1	ORPHA:221008
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9949	AMMECR1	OMIM:300990
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10588	MTHFS	OMIM:618367
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55503	TRPV6	OMIM:618188
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	815	CAMK2A	OMIM:617798
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	11128	POLR3A	OMIM:264090
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	11128	POLR3A	ORPHA:3455
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8540	AGPS	OMIM:600121
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8802	SUCLG1	ORPHA:17
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	202018	TAPT1	OMIM:616897
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8792	TNFRSF11A	OMIM:602080
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	871	SERPINH1	OMIM:613848
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3094	HINT1	ORPHA:324442
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9759	HDAC4	OMIM:600430
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9578	CDC42BPB	OMIM:619841
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5191	PEX7	OMIM:266500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5264	PHYH	OMIM:266500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	94005	PIGS	OMIM:618143
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	341208	HEPHL1	OMIM:261990
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	89970	RSPRY1	ORPHA:457395
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	89970	RSPRY1	OMIM:616723
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54585	LZTFL1	OMIM:615994
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55628	ZNF407	OMIM:619557
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2146	EZH2	OMIM:277590
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79633	FAT4	OMIM:615546
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8642	DCHS1	OMIM:601390
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54496	PRMT7	ORPHA:464288
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6925	TCF4	OMIM:610954
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54101	RIPK4	ORPHA:1401
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2778	GNAS	ORPHA:79443
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2778	GNAS	ORPHA:79444
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23288	IQCE	OMIM:617642
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7355	SLC35A2	ORPHA:356961
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79087	ALG12	OMIM:607143
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3977	LIFR	OMIM:601559
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4750	NEK1	OMIM:263520
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	727857	BHLHA9	ORPHA:3329
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	727857	BHLHA9	ORPHA:1986
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57688	ZSWIM6	ORPHA:1827
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64327	LMBR1	ORPHA:988
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6469	SHH	ORPHA:988
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	26123	TCTN3	ORPHA:2753
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	59341	TRPV4	ORPHA:85169
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	219844	HYLS1	OMIM:236680
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2131	EXT1	ORPHA:321
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2132	EXT2	ORPHA:321
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	249	ALPL	OMIM:241500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2335	FN1	ORPHA:93315
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5479	PPIB	OMIM:259440
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4322	MMP13	OMIM:250400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4322	MMP13	ORPHA:93356
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4322	MMP13	ORPHA:2501
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3911	LAMA5	OMIM:620076
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2767	GNA11	ORPHA:1556
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	151188	ARL6IP6	ORPHA:1556
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	545	ATR	OMIM:210600
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	25839	COG4	OMIM:618150
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1146	CHRNG	OMIM:265000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4998	ORC1	OMIM:224690
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4998	ORC1	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23522	KAT6B	OMIM:606170
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23522	KAT6B	ORPHA:85201
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9939	RBM8A	OMIM:274000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	157570	ESCO2	ORPHA:3103
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	81620	CDT1	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	81620	CDT1	OMIM:613804
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5000	ORC4	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5000	ORC4	OMIM:613800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8318	CDC45	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	990	CDC6	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	990	CDC6	OMIM:613805
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51053	GMNN	ORPHA:2554
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51053	GMNN	OMIM:616835
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6473	SHOX	ORPHA:240
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	60681	FKBP10	ORPHA:1149
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3239	HOXD13	OMIM:186000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23394	ADNP	OMIM:615873
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	374969	SVBP	OMIM:618569
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6926	TBX3	OMIM:181450
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1327	COX4I1	OMIM:619060
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8936	WASF1	OMIM:618707
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9896	FIG4	OMIM:216340
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3459	IFNGR1	OMIM:209950
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1836	SLC26A2	OMIM:226900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3425	IDUA	OMIM:607014
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10940	POP1	OMIM:617396
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	26146	TRAF3IP1	OMIM:616629
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79659	DYNC2H1	OMIM:613091
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	538	ATP7A	ORPHA:198
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	55636	CHD7	OMIM:214800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1147	CHUK	OMIM:613630
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9060	PAPSS2	OMIM:612847
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1009	CDH11	ORPHA:1299
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7291	TWIST1	OMIM:101400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57020	VPS35L	OMIM:619135
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	90	ACVR1	OMIM:135100
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	90	ACVR1	ORPHA:337
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	50515	CHST11	OMIM:618167
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4256	MGP	OMIM:245150
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7994	KAT6A	OMIM:616268
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10060	ABCC9	OMIM:239850
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10060	ABCC9	ORPHA:1517
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	22827	PUF60	ORPHA:508488
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10815	CPLX1	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10815	CPLX1	OMIM:194190
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54872	PIGG	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7469	NELFA	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1487	CTBP1	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1487	CTBP1	OMIM:194190
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3954	LETM1	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3954	LETM1	OMIM:194190
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7468	NSD2	ORPHA:280
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7468	NSD2	OMIM:194190
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57167	SALL4	ORPHA:959
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	53834	FGFRL1	OMIM:194190
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3764	KCNJ8	ORPHA:1517
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7476	WNT7A	OMIM:276820
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9487	PIGL	ORPHA:3474
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8626	TP63	OMIM:605289
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4920	ROR2	OMIM:113000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51715	RAB23	OMIM:201000
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6299	SALL1	OMIM:107480
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6299	SALL1	ORPHA:857
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51339	DACT1	ORPHA:857
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	526	ATP6V1B2	ORPHA:79500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57465	TBC1D24	ORPHA:79500
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51776	MAP3K20	ORPHA:488232
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64374	SIL1	OMIM:248800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5744	PTHLH	OMIM:613382
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5744	PTHLH	ORPHA:93387
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	51098	IFT52	OMIM:617102
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	124583	CANT1	OMIM:251450
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54808	DYM	OMIM:223800
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	157680	VPS13B	OMIM:216550
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6595	SMARCA2	OMIM:601358
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	83452	RAB33B	OMIM:615222
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6736	SRY	ORPHA:1772
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	90417	KNSTRN	OMIM:613328
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5293	PIK3CD	OMIM:613328
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	79971	WLS	OMIM:619648
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	50814	NSDHL	OMIM:308050
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4851	NOTCH1	ORPHA:974
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57514	ARHGAP31	ORPHA:974
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57572	DOCK6	ORPHA:974
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2033	EP300	OMIM:613684
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3516	RBPJ	OMIM:614814
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1859	DYRK1A	ORPHA:268261
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3930	LBR	OMIM:215140
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4000	LMNA	ORPHA:2229
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6597	SMARCA4	OMIM:614609
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3782	KCNN3	OMIM:618658
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	285203	EOGT	OMIM:615297
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	658	BMPR1B	ORPHA:2098
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57492	ARID1B	OMIM:135900
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1311	COMP	ORPHA:750
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1311	COMP	OMIM:132400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6399	TRAPPC2	ORPHA:93284
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6399	TRAPPC2	OMIM:313400
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	65992	DDRGK1	OMIM:602557
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9131	AIFM1	OMIM:300232
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	755	CFAP410	OMIM:602271
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	91147	TMEM67	OMIM:602152
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8720	MBTPS1	OMIM:618392
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10651	MTX2	OMIM:619127
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23233	EXOC6B	OMIM:618395
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8838	CCN6	ORPHA:1159
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	10216	PRG4	ORPHA:2848
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4148	MATN3	OMIM:607078
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	126792	B3GALT6	OMIM:271640
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	4318	MMP9	OMIM:613073
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	84068	SLC10A7	OMIM:618363
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5286	PIK3C2A	OMIM:618440
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9469	CHST3	OMIM:143095
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	1108	CHD4	OMIM:617159
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	54187	NANS	OMIM:610442
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	64131	XYLT1	ORPHA:370930
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	91252	SLC39A13	ORPHA:157965
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	91252	SLC39A13	OMIM:612350
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	860	RUNX2	OMIM:119600
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	80169	CTC1	OMIM:612199
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	5830	PEX5	OMIM:616716
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8243	SMC1A	OMIM:300590
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8243	SMC1A	OMIM:301044
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8243	SMC1A	ORPHA:3095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8243	SMC1A	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	388015	RTL1	ORPHA:254531
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	388015	RTL1	ORPHA:254525
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	388015	RTL1	ORPHA:96184
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8788	DLK1	ORPHA:254531
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8788	DLK1	ORPHA:254525
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8788	DLK1	ORPHA:96184
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55384	MEG3	ORPHA:254531
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55384	MEG3	ORPHA:254525
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55384	MEG3	ORPHA:96184
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23111	SPART	OMIM:275900
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8450	CUL4B	OMIM:300354
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8450	CUL4B	ORPHA:85293
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2245	FGD1	OMIM:305400
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2245	FGD1	ORPHA:915
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	26235	FBXL4	OMIM:615471
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	22856	CHSY1	ORPHA:363417
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	124997	WDR81	OMIM:610185
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5648	MASP1	OMIM:257920
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23314	SATB2	ORPHA:251028
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23314	SATB2	ORPHA:576283
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7681	MKRN3	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3653	IPW	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	ORPHA:177904
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	ORPHA:177901
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	ORPHA:398069
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	ORPHA:177910
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	OMIM:615547
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54551	MAGEL2	ORPHA:98754
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	791114	PWRN1	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	100033413	SNORD116-1	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8924	HERC2	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	145624	PWAR1	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23742	NPAP1	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	338433	SNORD115-1	OMIM:176270
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9401	RECQL4	OMIM:268400
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6792	CDKL5	ORPHA:3095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6792	CDKL5	OMIM:300672
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	22854	NTNG1	ORPHA:3095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9568	GABBR2	ORPHA:3095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9568	GABBR2	OMIM:617903
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4204	MECP2	ORPHA:3095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4204	MECP2	OMIM:300260
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4204	MECP2	OMIM:312750
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55869	HDAC8	OMIM:300882
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55869	HDAC8	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55869	HDAC8	ORPHA:3459
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55112	DYNC2I1	ORPHA:93271
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55112	DYNC2I1	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57560	IFT80	ORPHA:93271
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57560	IFT80	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57560	IFT80	OMIM:611263
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57539	WDR35	ORPHA:93271
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79659	DYNC2H1	ORPHA:93271
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79659	DYNC2H1	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	89891	DYNC2I2	ORPHA:93271
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	89891	DYNC2I2	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1062	CENPE	OMIM:616051
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6651	SON	OMIM:617140
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23030	KDM4B	OMIM:619320
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6905	TBCE	ORPHA:2323
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6905	TBCE	OMIM:241410
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6905	TBCE	OMIM:244460
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6905	TBCE	ORPHA:93324
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6492	SIM1	ORPHA:398079
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9382	COG1	OMIM:611209
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9126	SMC3	OMIM:610759
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9126	SMC3	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3549	IHH	ORPHA:93388
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55777	MBD5	OMIM:156200
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6638	SNRPN	ORPHA:177904
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6638	SNRPN	ORPHA:177901
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6638	SNRPN	ORPHA:177910
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6638	SNRPN	ORPHA:177907
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6638	SNRPN	ORPHA:98754
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4692	NDN	ORPHA:177904
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4692	NDN	ORPHA:177901
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4692	NDN	ORPHA:177910
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4692	NDN	ORPHA:98754
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4948	OCA2	ORPHA:177904
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4948	OCA2	ORPHA:177901
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4948	OCA2	ORPHA:98754
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2263	FGFR2	ORPHA:93260
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2263	FGFR2	ORPHA:93258
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2263	FGFR2	ORPHA:93259
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2590	GALNT2	OMIM:618885
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	818	CAMK2G	OMIM:618522
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	80204	FBXO11	OMIM:618089
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1778	DYNC1H1	OMIM:614563
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3064	HTT	OMIM:617435
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10381	TUBB3	ORPHA:300570
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	84100	ARL6	OMIM:209900
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79140	CCDC28B	OMIM:209900
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	582	BBS1	OMIM:209900
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3759	KCNJ2	OMIM:170390
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3759	KCNJ2	ORPHA:37553
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2260	FGFR1	ORPHA:93258
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2260	FGFR1	OMIM:166250
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64327	LMBR1	OMIM:135750
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6045	RNF2	OMIM:619460
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7319	UBE2A	OMIM:300860
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7319	UBE2A	ORPHA:163956
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10943	MSL3	OMIM:301032
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10087	CERT1	OMIM:616351
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	633	BGN	OMIM:300106
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1301	COL11A1	OMIM:228520
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6885	MAP3K7	OMIM:157800
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6304	SATB1	OMIM:619229
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	25942	SIN3A	OMIM:613406
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23476	BRD4	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	25836	NIPBL	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5885	RAD21	ORPHA:199
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	26160	IFT172	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	153241	CEP120	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	51626	DYNC2LI1	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57728	WDR19	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57728	WDR19	OMIM:614376
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79809	TTC21B	ORPHA:474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54888	NSUN2	ORPHA:235
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55768	NGLY1	OMIM:615273
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7874	USP7	ORPHA:500055
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8493	PPM1D	OMIM:617450
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57003	CCDC47	OMIM:618268
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2200	FBN1	OMIM:614185
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2200	FBN1	OMIM:102370
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8239	USP9X	ORPHA:480880
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8239	USP9X	OMIM:300968
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9894	TELO2	ORPHA:488642
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10013	HDAC6	ORPHA:163966
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8364	H4C3	OMIM:619758
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5590	PRKCZ	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2563	GABRD	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23013	SPEN	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8510	MMP23B	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7798	LUZP1	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6497	SKI	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10630	PDPN	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3339	HSPG2	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10277	UBE4B	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8514	KCNAB2	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	473	RERE	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	63976	PRDM16	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54897	CASZ1	ORPHA:1606
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9719	ADAMTSL2	OMIM:231050
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4796	TONSL	ORPHA:93357
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55343	SLC35C1	OMIM:266265
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10236	HNRNPR	OMIM:620073
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23556	PIGN	ORPHA:280633
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3636	INPPL1	OMIM:258480
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7750	ZMYM2	OMIM:619522
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3800	KIF5C	OMIM:615282
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5159	PDGFRB	OMIM:601812
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	81887	LAS1L	ORPHA:3459
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	81887	LAS1L	OMIM:309585
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8242	KDM5C	OMIM:300534
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23162	MAPK8IP3	OMIM:618443
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2332	FMR1	ORPHA:261483
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9321	TRIP11	ORPHA:93299
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	147372	CCBE1	OMIM:235510
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9130	FAM50A	OMIM:300261
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1513	CTSK	ORPHA:763
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8295	TRRAP	OMIM:618454
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7227	TRPS1	OMIM:190351
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	25886	POC1A	OMIM:614813
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3480	IGF1R	OMIM:270450
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3762	KCNJ5	ORPHA:37553
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1281	COL3A1	ORPHA:2500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4054	LTBP3	OMIM:617809
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10075	HUWE1	OMIM:309590
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	242	ALOX12B	OMIM:242100
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	59344	ALOXE3	OMIM:242100
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1280	COL2A1	OMIM:271700
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1280	COL2A1	OMIM:609162
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5573	PRKAR1A	ORPHA:950
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5573	PRKAR1A	ORPHA:280651
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5144	PDE4D	ORPHA:950
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5144	PDE4D	ORPHA:280651
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5144	PDE4D	ORPHA:439822
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7840	ALMS1	ORPHA:64
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4882	NPR2	OMIM:602875
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	145173	B3GLCT	OMIM:261540
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	145173	B3GLCT	ORPHA:709
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5593	PRKG2	OMIM:619636
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	100151683	RNU4ATAC	ORPHA:353298
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	100151683	RNU4ATAC	OMIM:616651
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6023	RMRP	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6023	RMRP	OMIM:607095
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55636	CHD7	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3981	LIG4	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5896	RAG1	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5897	RAG2	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64421	DCLRE1C	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	100	ADA	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3575	IL7R	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3561	IL2RG	ORPHA:39041
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1788	DNMT3A	ORPHA:404443
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2261	FGFR3	ORPHA:429
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6473	SHOX	OMIM:127300
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55027	HEATR3	OMIM:620072
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79718	TBL1XR1	OMIM:602342
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79718	TBL1XR1	ORPHA:487825
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2316	FLNA	OMIM:300244
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4089	SMAD4	OMIM:139210
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54928	BPNT2	OMIM:614078
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23426	GRIP1	OMIM:617667
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1836	SLC26A2	ORPHA:93307
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7140	TNNT3	OMIM:618435
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	25782	RAB3GAP2	OMIM:212720
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23384	SPECC1L	ORPHA:1519
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4297	KMT2A	OMIM:605130
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55650	PIGV	OMIM:239300
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	427	ASAH1	ORPHA:333
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2239	GPC4	ORPHA:373
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2719	GPC3	ORPHA:373
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3039	HBA1	ORPHA:98791
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3040	HBA2	ORPHA:98791
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	84295	PHF6	OMIM:301900
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	84295	PHF6	ORPHA:127
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23483	TGDS	OMIM:616145
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	650	BMP2	OMIM:617877
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8481	OFD1	ORPHA:2750
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55764	IFT122	OMIM:218330
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	50945	TBX22	ORPHA:921
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5745	PTH1R	ORPHA:79106
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1717	DHCR7	OMIM:270400
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	171023	ASXL1	OMIM:605039
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55697	VAC14	ORPHA:3472
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9509	ADAMTS2	OMIM:225410
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9742	IFT140	OMIM:266920
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	375056	MIA3	OMIM:619269
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57178	ZMIZ1	OMIM:618659
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4613	MYCN	OMIM:164280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2697	GJA1	ORPHA:93404
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4853	NOTCH2	ORPHA:955
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2313	FLI1	ORPHA:2308
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2690	GHR	ORPHA:633
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2879	GPX4	OMIM:250220
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64840	PORCN	OMIM:305600
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7480	WNT10B	OMIM:225300
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10262	SF3B4	OMIM:154400
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54567	DLL4	OMIM:616589
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64093	SMOC1	OMIM:206920
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64093	SMOC1	ORPHA:1106
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1749	DLX5	OMIM:183600
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4038	LRP4	ORPHA:3258
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	324	APC	ORPHA:3258
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2737	GLI3	ORPHA:93322
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5281	PIGF	OMIM:619356
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9241	NOG	ORPHA:140908
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	415	ARSL	ORPHA:79345
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3756	KCNH1	OMIM:135500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3209	HOXA13	OMIM:176305
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3209	HOXA13	OMIM:140000
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	113246	C12orf57	OMIM:218340
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8200	GDF5	OMIM:200700
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3094	HINT1	ORPHA:324442
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9759	HDAC4	OMIM:600430
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9578	CDC42BPB	OMIM:619841
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5191	PEX7	OMIM:266500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5264	PHYH	OMIM:266500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	94005	PIGS	OMIM:618143
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	341208	HEPHL1	OMIM:261990
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	89970	RSPRY1	ORPHA:457395
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	89970	RSPRY1	OMIM:616723
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54585	LZTFL1	OMIM:615994
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	55628	ZNF407	OMIM:619557
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2146	EZH2	OMIM:277590
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79633	FAT4	OMIM:615546
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8642	DCHS1	OMIM:601390
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54496	PRMT7	ORPHA:464288
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6925	TCF4	OMIM:610954
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54101	RIPK4	ORPHA:1401
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2778	GNAS	ORPHA:79443
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2778	GNAS	ORPHA:79444
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23288	IQCE	OMIM:617642
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6662	SOX9	OMIM:114290
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	59341	TRPV4	ORPHA:85169
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3239	HOXD13	OMIM:186000
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	23394	ADNP	OMIM:615873
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	374969	SVBP	OMIM:618569
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6926	TBX3	OMIM:181450
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1327	COX4I1	OMIM:619060
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8936	WASF1	OMIM:618707
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9896	FIG4	OMIM:216340
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	727857	BHLHA9	ORPHA:157801
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	727857	BHLHA9	OMIM:609432
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4750	NEK1	ORPHA:2751
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7291	TWIST1	OMIM:101400
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57020	VPS35L	OMIM:619135
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	90	ACVR1	OMIM:135100
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	90	ACVR1	ORPHA:337
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	50515	CHST11	OMIM:618167
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4256	MGP	OMIM:245150
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7994	KAT6A	OMIM:616268
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10060	ABCC9	OMIM:239850
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10060	ABCC9	ORPHA:1517
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	22827	PUF60	ORPHA:508488
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10815	CPLX1	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	10815	CPLX1	OMIM:194190
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54872	PIGG	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7469	NELFA	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1487	CTBP1	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1487	CTBP1	OMIM:194190
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3954	LETM1	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3954	LETM1	OMIM:194190
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7468	NSD2	ORPHA:280
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7468	NSD2	OMIM:194190
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9775	EIF4A3	OMIM:268305
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57167	SALL4	ORPHA:959
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	53834	FGFRL1	OMIM:194190
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3764	KCNJ8	ORPHA:1517
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7476	WNT7A	OMIM:276820
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9487	PIGL	ORPHA:3474
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	8626	TP63	OMIM:605289
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4920	ROR2	OMIM:113000
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	51715	RAB23	OMIM:201000
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6299	SALL1	OMIM:107480
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6299	SALL1	ORPHA:857
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	51339	DACT1	ORPHA:857
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	526	ATP6V1B2	ORPHA:79500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57465	TBC1D24	ORPHA:79500
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	51776	MAP3K20	ORPHA:488232
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	64374	SIL1	OMIM:248800
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	25839	COG4	OMIM:618150
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5744	PTHLH	OMIM:613382
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5744	PTHLH	ORPHA:93387
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	51098	IFT52	OMIM:617102
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	124583	CANT1	OMIM:251450
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	54808	DYM	OMIM:223800
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2317	FLNB	OMIM:108720
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2317	FLNB	OMIM:150250
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	157680	VPS13B	OMIM:216550
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6595	SMARCA2	OMIM:601358
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	83452	RAB33B	OMIM:615222
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6736	SRY	ORPHA:1772
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	90417	KNSTRN	OMIM:613328
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	5293	PIK3CD	OMIM:613328
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	79971	WLS	OMIM:619648
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	50814	NSDHL	OMIM:308050
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4851	NOTCH1	ORPHA:974
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57514	ARHGAP31	ORPHA:974
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57572	DOCK6	ORPHA:974
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2033	EP300	OMIM:613684
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3516	RBPJ	OMIM:614814
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	1859	DYRK1A	ORPHA:268261
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3930	LBR	OMIM:215140
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	4000	LMNA	ORPHA:2229
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6597	SMARCA4	OMIM:614609
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3782	KCNN3	OMIM:618658
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	285203	EOGT	OMIM:615297
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	658	BMPR1B	ORPHA:2098
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57492	ARID1B	OMIM:135900
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	157570	ESCO2	OMIM:268300
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7480	WNT10B	OMIM:225300
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7476	WNT7A	OMIM:228930
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7476	WNT7A	ORPHA:2879
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7476	WNT7A	OMIM:276820
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25836	NIPBL	OMIM:122470
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6154	RPL26	OMIM:614900
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64093	SMOC1	OMIM:206920
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64093	SMOC1	ORPHA:1106
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1749	DLX5	OMIM:183600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10262	SF3B4	ORPHA:1788
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3835	KIF22	OMIM:603546
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23233	EXOC6B	OMIM:618395
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54187	NANS	OMIM:610442
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79158	GNPTAB	OMIM:252600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79158	GNPTAB	OMIM:252500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5832	ALDH18A1	OMIM:601162
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	28981	IFT81	OMIM:617895
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	92002	CCNQ	ORPHA:140952
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79087	ALG12	OMIM:607143
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9820	CUL7	ORPHA:2616
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23363	OBSL1	ORPHA:2616
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	83987	CCDC8	ORPHA:2616
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	567	B2M	OMIM:241600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7547	ZIC3	OMIM:314390
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8517	IKBKG	ORPHA:464
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5980	REV3L	ORPHA:570
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23129	PLXND1	ORPHA:570
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1750	DLX6	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7979	SEM1	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8945	BTRC	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8626	TP63	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	58513	EPS15L1	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6468	FBXW4	ORPHA:2440
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3516	RBPJ	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4851	NOTCH1	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57514	ARHGAP31	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57572	DOCK6	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	285203	EOGT	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54567	DLL4	ORPHA:974
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55636	CHD7	OMIM:214800
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	727857	BHLHA9	ORPHA:1986
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7021	TFAP2B	ORPHA:46627
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3481	IGF2	OMIM:180860
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51199	NIN	ORPHA:319675
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51199	NIN	OMIM:614851
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2783	GNB2	OMIM:619503
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5932	RBBP8	OMIM:251255
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3480	IGF1R	ORPHA:73273
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	22827	PUF60	ORPHA:508498
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2245	FGD1	OMIM:305400
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2245	FGD1	ORPHA:915
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	124997	WDR81	OMIM:610185
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	118429	ANTXR2	ORPHA:2176
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7681	MKRN3	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3653	IPW	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54551	MAGEL2	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	791114	PWRN1	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	100033413	SNORD116-1	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8924	HERC2	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	145624	PWAR1	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23742	NPAP1	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	338433	SNORD115-1	OMIM:176270
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55112	DYNC2I1	ORPHA:93271
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57539	WDR35	ORPHA:93271
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79659	DYNC2H1	ORPHA:93271
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	89891	DYNC2I2	ORPHA:93271
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	613	BCR	ORPHA:261330
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1399	CRKL	ORPHA:261330
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5594	MAPK1	ORPHA:261330
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2623	GATA1	OMIM:190685
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23030	KDM4B	OMIM:619320
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79639	TMEM53	OMIM:619727
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55249	YY1AP1	ORPHA:79094
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10982	MAPRE2	OMIM:616734
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	818	CAMK2G	OMIM:618522
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4998	ORC1	OMIM:224690
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1778	DYNC1H1	OMIM:614563
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	222663	SCUBE3	OMIM:619184
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	80311	KLHL15	OMIM:300982
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10943	MSL3	OMIM:301032
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1301	COL11A1	OMIM:228520
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55012	PPP2R3C	OMIM:618419
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25942	SIN3A	OMIM:613406
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51763	INPP5K	ORPHA:559
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9244	CRLF1	OMIM:272430
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4000	LMNA	ORPHA:79474
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2254	FGF9	ORPHA:3237
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6905	TBCE	OMIM:241410
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6905	TBCE	OMIM:244460
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1857	DVL3	ORPHA:3107
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7474	WNT5A	ORPHA:3107
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7474	WNT5A	OMIM:180700
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1855	DVL1	ORPHA:3107
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1855	DVL1	OMIM:180700
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9791	PTDSS1	ORPHA:2658
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2121	EVC	OMIM:193530
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	132884	EVC2	OMIM:193530
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10013	HDAC6	ORPHA:163966
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79753	SNIP1	OMIM:614501
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9719	ADAMTSL2	OMIM:231050
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4796	TONSL	ORPHA:93357
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10236	HNRNPR	OMIM:620073
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79718	TBL1XR1	OMIM:602342
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1298	COL9A2	OMIM:600204
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	285590	SH3PXD2B	OMIM:249420
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5159	PDGFRB	OMIM:601812
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23522	KAT6B	ORPHA:85201
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3845	KRAS	ORPHA:3339
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	28957	MRPS28	OMIM:618958
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23261	CAMTA1	OMIM:614756
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8450	CUL4B	ORPHA:85293
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6925	TCF4	OMIM:610954
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5295	PIK3R1	ORPHA:3163
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8813	DPM1	OMIM:608799
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10743	RAI1	OMIM:182290
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8242	KDM5C	ORPHA:85279
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51322	WAC	ORPHA:466950
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	147372	CCBE1	OMIM:235510
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29123	ANKRD11	OMIM:148050
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2719	GPC3	OMIM:312870
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2239	GPC4	OMIM:312870
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4089	SMAD4	ORPHA:2588
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2535	FZD2	OMIM:164745
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10082	GPC6	OMIM:258315
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10082	GPC6	ORPHA:93329
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	91179	SCARF2	OMIM:600920
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4920	ROR2	OMIM:268310
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6628	SNRPB	OMIM:117650
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10588	MTHFS	OMIM:618367
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9851	KIAA0753	OMIM:619479
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	11128	POLR3A	OMIM:264090
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	11128	POLR3A	ORPHA:3455
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55764	IFT122	OMIM:218330
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	145258	GSC	OMIM:602471
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4982	TNFRSF11B	OMIM:239000
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8540	AGPS	OMIM:600121
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8443	GNPAT	OMIM:222765
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8802	SUCLG1	ORPHA:17
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5830	PEX5	OMIM:616716
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	59341	TRPV4	OMIM:606835
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	59341	TRPV4	ORPHA:93314
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	59341	TRPV4	ORPHA:85169
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55777	MBD5	OMIM:156200
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4613	MYCN	ORPHA:391641
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4613	MYCN	OMIM:164280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1300	COL10A1	OMIM:156500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2261	FGFR3	ORPHA:15
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2261	FGFR3	OMIM:602849
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5422	POLA1	OMIM:301030
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	652	BMP4	OMIM:607932
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9742	IFT140	OMIM:266920
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8085	KMT2D	ORPHA:2322
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7403	KDM6A	ORPHA:2322
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51053	GMNN	OMIM:616835
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5116	PCNT	OMIM:210720
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	22995	CEP152	OMIM:613823
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55081	IFT57	OMIM:617927
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	407975	MIR17HG	ORPHA:391646
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4297	KMT2A	OMIM:605130
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2263	FGFR2	OMIM:101600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84295	PHF6	OMIM:301900
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3209	HOXA13	OMIM:140000
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3209	HOXA13	ORPHA:2438
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9451	EIF2AK3	OMIM:226980
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84992	PIGY	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84992	PIGY	OMIM:616809
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84720	PIGO	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84720	PIGO	OMIM:614749
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	93210	PGAP3	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	93210	PGAP3	OMIM:615716
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	284098	PIGW	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	27315	PGAP2	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	27315	PGAP2	OMIM:614207
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55650	PIGV	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9487	PIGL	ORPHA:247262
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57020	VPS35L	OMIM:619135
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4256	MGP	OMIM:245150
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2972	BRF1	OMIM:616202
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29929	ALG6	ORPHA:79320
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23556	PIGN	ORPHA:280633
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	545	ATR	OMIM:210600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	27125	AFF4	ORPHA:444077
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8241	RBM10	ORPHA:2886
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4318	MMP9	ORPHA:1040
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4322	MMP13	ORPHA:1040
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6910	TBX5	ORPHA:392
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7140	TNNT3	ORPHA:1147
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4621	MYH3	ORPHA:1147
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7169	TPM2	ORPHA:1147
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	259232	NALCN	ORPHA:1147
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7136	TNNI2	ORPHA:1147
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	672	BRCA1	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10459	MAD2L2	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29089	UBE2T	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	675	BRCA2	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55120	FANCL	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2175	FANCA	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2187	FANCB	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2176	FANCC	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2178	FANCE	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2188	FANCF	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2189	FANCG	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5888	RAD51	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5889	RAD51C	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55159	RFWD3	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	83990	BRIP1	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57697	FANCM	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79728	PALB2	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84464	SLX4	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2072	ERCC4	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55215	FANCI	ORPHA:84
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7040	TGFB1	ORPHA:1328
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	60681	FKBP10	ORPHA:1149
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9555	MACROH2A1	ORPHA:1275
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5307	PITX1	ORPHA:1275
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1717	DHCR7	ORPHA:818
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	538	ATP7A	ORPHA:198
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9939	RBM8A	ORPHA:3320
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9939	RBM8A	OMIM:274000
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2697	GJA1	OMIM:186100
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	526	ATP6V1B2	OMIM:124480
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	56992	KIF15	ORPHA:261323
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23162	MAPK8IP3	OMIM:618443
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5648	MASP1	OMIM:257920
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6597	SMARCA4	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6597	SMARCA4	OMIM:614609
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6598	SMARCB1	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6659	SOX4	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5977	DPF2	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6601	SMARCC2	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6602	SMARCD1	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57492	ARID1B	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	196528	ARID2	ORPHA:1465
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5879	RAC1	ORPHA:500159
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4848	CNOT2	OMIM:618608
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5286	PIK3C2A	ORPHA:557003
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1327	COX4I1	OMIM:619060
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1028	CDKN1C	ORPHA:397590
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5324	PLAG1	ORPHA:397590
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8091	HMGA2	ORPHA:397590
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2122	MECOM	OMIM:616738
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	242	ALOX12B	OMIM:242100
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	59344	ALOXE3	OMIM:242100
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8820	HESX1	OMIM:182230
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8820	HESX1	ORPHA:226307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26154	ABCA12	OMIM:242500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7840	ALMS1	ORPHA:64
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9131	AIFM1	OMIM:300232
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6134	RPL10	OMIM:300998
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6134	RPL10	ORPHA:459070
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5626	PROP1	ORPHA:226307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	89884	LHX4	ORPHA:226307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8022	LHX3	ORPHA:226307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5449	POU1F1	ORPHA:226307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4038	LRP4	OMIM:614305
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7750	ZMYM2	OMIM:619522
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9578	CDC42BPB	OMIM:619841
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8481	OFD1	OMIM:300209
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55784	MCTP2	ORPHA:1596
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	176	ACAN	OMIM:612813
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	427	ASAH1	ORPHA:333
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	444	ASPH	OMIM:601552
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1513	CTSK	ORPHA:763
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	84823	LMNB2	OMIM:619180
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	164	AP1G1	OMIM:619467
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57178	ZMIZ1	OMIM:618659
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1146	CHRNG	OMIM:253290
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1144	CHRND	OMIM:253290
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1134	CHRNA1	OMIM:253290
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6792	CDKL5	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3736	KCNA1	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9091	PIGQ	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2775	GNAO1	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	81603	TRIM8	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2902	GRIN1	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79751	SLC25A22	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	150094	SIK1	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8573	CASK	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23312	DMXL2	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2917	GRM7	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	170302	ARX	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	11284	PNKP	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6326	SCN2A	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51227	PIGP	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6324	SCN1B	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4761	NEUROD2	ORPHA:1934
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26123	TCTN3	OMIM:258860
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2019	EN1	OMIM:619218
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4212	MEIS2	OMIM:600987
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10265	IRX5	OMIM:611174
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	50814	NSDHL	OMIM:308050
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	27152	INTU	OMIM:617926
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9935	MAFB	ORPHA:233
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1123	CHN1	ORPHA:233
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3981	LIG4	ORPHA:235
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54888	NSUN2	ORPHA:235
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5925	RB1	ORPHA:1587
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	80144	FRAS1	OMIM:219000
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3756	KCNH1	ORPHA:420561
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4750	NEK1	ORPHA:2751
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6651	SON	ORPHA:500150
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	340419	RSPO2	OMIM:618022
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8452	CUL3	OMIM:619239
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6223	RPS19	OMIM:105650
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6223	RPS19	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6135	RPL11	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6138	RPL15	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6229	RPS24	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6125	RPL5	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6204	RPS10	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6224	RPS20	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6165	RPL35A	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6232	RPS27	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6231	RPS26	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	11224	RPL35	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6160	RPL31	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6218	RPS17	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6201	RPS7	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6155	RPL27	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6210	RPS15A	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	90121	TSR2	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6141	RPL18	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6235	RPS29	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6234	RPS28	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51816	ADA2	ORPHA:124
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2255	FGF10	ORPHA:2363
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23028	KDM1A	OMIM:616728
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23028	KDM1A	ORPHA:477993
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29998	BICRA	OMIM:619325
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1723	DHODH	OMIM:263750
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	324	APC	ORPHA:3258
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54880	BCOR	ORPHA:2712
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7020	TFAP2A	OMIM:113620
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10815	CPLX1	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10815	CPLX1	OMIM:194190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54872	PIGG	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7469	NELFA	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1487	CTBP1	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1487	CTBP1	OMIM:194190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3954	LETM1	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3954	LETM1	OMIM:194190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7468	NSD2	ORPHA:280
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7468	NSD2	OMIM:194190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	53834	FGFRL1	OMIM:194190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1387	CREBBP	OMIM:180849
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2033	EP300	OMIM:180849
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	91461	PKDCC	OMIM:618821
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	80036	TRPM3	OMIM:620224
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	374879	ZNF699	OMIM:619488
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	50515	CHST11	OMIM:618167
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9968	MED12	OMIM:300895
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4053	LTBP2	ORPHA:3449
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	81794	ADAMTS10	ORPHA:3449
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26100	WIPI2	OMIM:618453
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1009	CDH11	ORPHA:1299
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5718	PSMD12	ORPHA:529962
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2186	BPTF	ORPHA:529962
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51604	PIGT	ORPHA:369837
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2335	FN1	ORPHA:93315
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1147	CHUK	OMIM:613630
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	219844	HYLS1	OMIM:236680
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9488	PIGB	OMIM:618580
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10617	STAMBP	OMIM:614261
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51412	ACTL6B	OMIM:618470
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57465	TBC1D24	OMIM:220500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57465	TBC1D24	ORPHA:79500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3764	KCNJ8	ORPHA:1517
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10060	ABCC9	ORPHA:1517
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10651	MTX2	ORPHA:90153
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	112752	IFT43	ORPHA:1515
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57728	WDR19	ORPHA:1515
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57728	WDR19	OMIM:614378
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10269	ZMPSTE24	ORPHA:90154
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29957	SLC25A24	ORPHA:2963
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29957	SLC25A24	ORPHA:2095
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29957	SLC25A24	OMIM:612289
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4784	NFIX	OMIM:602535
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	24140	FTSJ1	OMIM:309549
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64359	NXN	ORPHA:1507
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8289	ARID1A	OMIM:614607
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5566	PRKACA	ORPHA:289
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5567	PRKACB	ORPHA:289
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2735	GLI1	ORPHA:289
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51626	DYNC2LI1	ORPHA:289
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9419	CRIPT	OMIM:615789
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3782	KCNN3	OMIM:618658
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4853	NOTCH2	ORPHA:955
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54	ACP5	ORPHA:1855
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5281	PIGF	OMIM:619356
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2677	GGCX	OMIM:277450
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	415	ARSL	ORPHA:79345
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	415	ARSL	OMIM:302950
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26137	ZBTB20	OMIM:259050
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	60401	EDA2R	ORPHA:181
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1896	EDA	ORPHA:181
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	28952	CCDC22	OMIM:300963
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	182	JAG1	OMIM:118450
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7291	TWIST1	OMIM:617746
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6605	SMARCE1	OMIM:616938
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1186	CLCN7	ORPHA:53
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2702	GJA5	OMIM:612474
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2703	GJA8	OMIM:612474
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6664	SOX11	OMIM:615866
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	865	CBFB	OMIM:620099
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23476	BRD4	ORPHA:199
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9126	SMC3	ORPHA:199
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8243	SMC1A	ORPHA:199
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55869	HDAC8	ORPHA:199
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5885	RAD21	ORPHA:199
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	90	ACVR1	OMIM:135100
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6662	SOX9	OMIM:114290
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26040	SETBP1	OMIM:269150
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26040	SETBP1	ORPHA:798
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	388015	RTL1	ORPHA:96334
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8788	DLK1	ORPHA:96334
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55384	MEG3	ORPHA:96334
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3911	LAMA5	OMIM:620076
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	124583	CANT1	OMIM:251450
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7516	XRCC2	OMIM:617247
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2177	FANCD2	OMIM:227646
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9896	FIG4	ORPHA:3472
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55697	VAC14	ORPHA:3472
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6469	SHH	ORPHA:93321
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7204	TRIO	ORPHA:476126
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2737	GLI3	ORPHA:93322
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	658	BMPR1B	ORPHA:93396
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	94005	PIGS	OMIM:618143
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6473	SHOX	OMIM:127300
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6736	SRY	ORPHA:1772
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79633	FAT4	OMIM:615546
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8642	DCHS1	OMIM:601390
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26224	FBXL3	OMIM:606220
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5727	PTCH1	OMIM:109400
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6926	TBX3	OMIM:181450
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55612	FERMT1	ORPHA:2908
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	650	BMP2	OMIM:617877
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	374969	SVBP	OMIM:618569
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	860	RUNX2	OMIM:156510
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8823	FGF16	OMIM:309630
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9241	NOG	OMIM:185800
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64327	LMBR1	OMIM:200500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57167	SALL4	OMIM:607323
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2137	EXTL3	ORPHA:508533
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1280	COL2A1	OMIM:271700
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1280	COL2A1	OMIM:609162
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9361	LONP1	OMIM:600373
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9361	LONP1	ORPHA:1458
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5573	PRKAR1A	ORPHA:950
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5573	PRKAR1A	OMIM:101800
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5573	PRKAR1A	ORPHA:280651
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5144	PDE4D	ORPHA:950
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5144	PDE4D	ORPHA:439822
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5144	PDE4D	OMIM:614613
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5144	PDE4D	ORPHA:280651
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64374	SIL1	OMIM:248800
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4921	DDR2	OMIM:271665
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54808	DYM	OMIM:607326
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54808	DYM	OMIM:223800
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2131	EXT1	OMIM:133700
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2131	EXT1	ORPHA:321
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2132	EXT2	OMIM:133701
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2132	EXT2	ORPHA:321
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2879	GPX4	ORPHA:93317
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2879	GPX4	OMIM:250220
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	100151683	RNU4ATAC	OMIM:210710
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	100151683	RNU4ATAC	OMIM:616651
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6885	MAP3K7	OMIM:617137
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6885	MAP3K7	ORPHA:1826
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9759	HDAC4	ORPHA:1001
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9759	HDAC4	OMIM:600430
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	89970	RSPRY1	OMIM:616723
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	89970	RSPRY1	ORPHA:457395
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55733	HHAT	OMIM:600092
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55733	HHAT	ORPHA:1422
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5447	POR	ORPHA:95699
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1836	SLC26A2	ORPHA:56304
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1836	SLC26A2	ORPHA:93307
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1836	SLC26A2	OMIM:226900
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	114803	MYSM1	ORPHA:508542
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	149775	GNAS-AS1	OMIM:603233
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8675	STX16	OMIM:603233
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	OMIM:603233
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	OMIM:612463
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	OMIM:612462
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	ORPHA:79443
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	ORPHA:79444
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS	OMIM:103580
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8200	GDF5	OMIM:228900
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8200	GDF5	ORPHA:968
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	117581	TWIST2	OMIM:200110
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10847	SRCAP	ORPHA:2044
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25782	RAB3GAP2	OMIM:212720
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5744	PTHLH	ORPHA:93387
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5744	PTHLH	OMIM:613382
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3239	HOXD13	ORPHA:93387
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3239	HOXD13	OMIM:113300
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10225	CD96	OMIM:211750
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64175	P3H1	OMIM:610915
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6197	RPS6KA3	OMIM:303600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6197	RPS6KA3	ORPHA:192
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9469	CHST3	ORPHA:263463
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9469	CHST3	OMIM:143095
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54496	PRMT7	OMIM:617157
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64131	XYLT1	OMIM:615777
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2200	FBN1	ORPHA:969
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2200	FBN1	OMIM:608328
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2200	FBN1	OMIM:102370
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4054	LTBP3	ORPHA:969
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3759	KCNJ2	OMIM:170390
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2317	FLNB	OMIM:108720
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2317	FLNB	OMIM:272460
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2317	FLNB	OMIM:150250
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	157680	VPS13B	OMIM:216550
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5139	PDE3A	OMIM:112410
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5139	PDE3A	ORPHA:1276
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3549	IHH	OMIM:607778
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3549	IHH	OMIM:112500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	633	BGN	OMIM:300106
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5745	PTH1R	ORPHA:50945
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1311	COMP	OMIM:132400
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1311	COMP	OMIM:177170
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	29980	DONSON	OMIM:617604
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64840	PORCN	OMIM:305600
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4882	NPR2	OMIM:602875
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	145173	B3GLCT	OMIM:261540
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9401	RECQL4	ORPHA:221016
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5593	PRKG2	OMIM:619636
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10283	CWC27	OMIM:250410
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10283	CWC27	ORPHA:166035
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4810	NHS	ORPHA:627
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25839	COG4	OMIM:618150
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3636	INPPL1	OMIM:258480
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9321	TRIP11	OMIM:184260
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5130	PCYT1A	ORPHA:85167
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5130	PCYT1A	OMIM:608940
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54928	BPNT2	OMIM:614078
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	51098	IFT52	OMIM:617102
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1299	COL9A3	OMIM:600969
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2316	FLNA	OMIM:304120
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2316	FLNA	ORPHA:1826
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4148	MATN3	OMIM:607078
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	126792	B3GALT6	OMIM:271640
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55252	ASXL2	OMIM:617190
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3930	LBR	OMIM:215140
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5264	PHYH	ORPHA:773
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5191	PEX7	ORPHA:773
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23483	TGDS	OMIM:616145
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2260	FGFR1	OMIM:166250
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1788	DNMT3A	OMIM:618724
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1302	COL11A2	ORPHA:1427
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	22856	CHSY1	OMIM:605282
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6595	SMARCA2	OMIM:601358
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9775	EIF4A3	OMIM:268305
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	54101	RIPK4	OMIM:263650
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	83452	RAB33B	OMIM:615222
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	91252	SLC39A13	OMIM:612350
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57560	IFT80	OMIM:611263
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25871	NEPRO	OMIM:618853
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7227	TRPS1	OMIM:190350
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7227	TRPS1	OMIM:190351
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7227	TRPS1	ORPHA:77258
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	90417	KNSTRN	OMIM:613328
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5293	PIK3CD	OMIM:613328
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	25886	POC1A	OMIM:614813
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6023	RMRP	OMIM:250460
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	64682	ANAPC1	ORPHA:221008
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1954	MEGF8	OMIM:614976
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2475	MTOR	OMIM:616638
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	26128	KIFBP	OMIM:609460
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9698	PUM1	OMIM:617931
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23394	ADNP	OMIM:615873
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23314	SATB2	ORPHA:251028
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	781	CACNA2D1	OMIM:620149
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	123263	MTFMT	OMIM:614947
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	22854	NTNG1	ORPHA:3095
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9568	GABBR2	ORPHA:3095
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9568	GABBR2	OMIM:617903
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4204	MECP2	ORPHA:3095
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4204	MECP2	OMIM:300055
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	79868	ALG13	OMIM:300884
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1062	CENPE	OMIM:616051
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6492	SIM1	ORPHA:398079
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9382	COG1	OMIM:611209
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6638	SNRPN	ORPHA:177904
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6638	SNRPN	ORPHA:177901
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6638	SNRPN	ORPHA:177910
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6638	SNRPN	ORPHA:177907
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6638	SNRPN	ORPHA:98754
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4692	NDN	ORPHA:177904
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4692	NDN	ORPHA:177901
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4692	NDN	ORPHA:177910
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4692	NDN	ORPHA:98754
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4948	OCA2	ORPHA:177904
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4948	OCA2	ORPHA:177901
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4948	OCA2	ORPHA:98754
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2590	GALNT2	OMIM:618885
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	80204	FBXO11	OMIM:618089
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3064	HTT	OMIM:617435
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10381	TUBB3	ORPHA:300570
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3248	HPGD	ORPHA:2796
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6578	SLCO2A1	ORPHA:2796
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7703	PCGF2	OMIM:618371
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6045	RNF2	OMIM:619460
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1501	CTNND2	ORPHA:281
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9037	SEMA5A	ORPHA:281
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23384	SPECC1L	OMIM:145420
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6304	SATB1	OMIM:619229
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55768	NGLY1	OMIM:615273
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7874	USP7	ORPHA:500055
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8493	PPM1D	OMIM:617450
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8558	CDK10	OMIM:617694
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8239	USP9X	ORPHA:480880
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	8239	USP9X	OMIM:300968
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9894	TELO2	ORPHA:488642
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	285175	UNC80	ORPHA:371364
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7486	WRN	ORPHA:902
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3800	KIF5C	OMIM:615282
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	4849	CNOT3	OMIM:618672
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	81887	LAS1L	ORPHA:3459
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2332	FMR1	ORPHA:261483
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	388662	SLC6A17	OMIM:616269
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23219	FBXO28	OMIM:619777
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5557	PRIM1	OMIM:620005
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	55790	CSGALNACT1	ORPHA:1425
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9130	FAM50A	OMIM:300261
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	406932	MIR140	OMIM:618618
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1801	DPH1	ORPHA:459061
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	3762	KCNJ5	ORPHA:37553
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1281	COL3A1	ORPHA:2500
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10075	HUWE1	OMIM:309590
HP:0009815	Aplasia/hypoplasia of the extremities	157570	ESCO2	OMIM:268300
HP:0009815	Aplasia/hypoplasia of the extremities	9401	RECQL4	ORPHA:1225
HP:0009815	Aplasia/hypoplasia of the extremities	25836	NIPBL	OMIM:122470
HP:0009815	Aplasia/hypoplasia of the extremities	6154	RPL26	OMIM:614900
HP:0009815	Aplasia/hypoplasia of the extremities	1311	COMP	OMIM:177170
HP:0009815	Aplasia/hypoplasia of the extremities	3835	KIF22	OMIM:603546
HP:0009815	Aplasia/hypoplasia of the extremities	9451	EIF2AK3	OMIM:226980
HP:0009815	Aplasia/hypoplasia of the extremities	23233	EXOC6B	OMIM:618395
HP:0009815	Aplasia/hypoplasia of the extremities	54187	NANS	OMIM:610442
HP:0009815	Aplasia/hypoplasia of the extremities	79158	GNPTAB	OMIM:252600
HP:0009815	Aplasia/hypoplasia of the extremities	79158	GNPTAB	OMIM:252500
HP:0009815	Aplasia/hypoplasia of the extremities	5832	ALDH18A1	OMIM:601162
HP:0009815	Aplasia/hypoplasia of the extremities	23111	SPART	OMIM:275900
HP:0009815	Aplasia/hypoplasia of the extremities	26235	FBXL4	OMIM:615471
HP:0009815	Aplasia/hypoplasia of the extremities	5648	MASP1	OMIM:257920
HP:0009815	Aplasia/hypoplasia of the extremities	23314	SATB2	ORPHA:251028
HP:0009815	Aplasia/hypoplasia of the extremities	23314	SATB2	ORPHA:576283
HP:0009815	Aplasia/hypoplasia of the extremities	6792	CDKL5	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	6792	CDKL5	OMIM:300672
HP:0009815	Aplasia/hypoplasia of the extremities	22854	NTNG1	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	9568	GABBR2	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	9568	GABBR2	OMIM:617903
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	OMIM:300260
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	OMIM:312750
HP:0009815	Aplasia/hypoplasia of the extremities	1062	CENPE	OMIM:616051
HP:0009815	Aplasia/hypoplasia of the extremities	6492	SIM1	ORPHA:398079
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177910
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177907
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177910
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	2590	GALNT2	OMIM:618885
HP:0009815	Aplasia/hypoplasia of the extremities	80204	FBXO11	OMIM:618089
HP:0009815	Aplasia/hypoplasia of the extremities	3064	HTT	OMIM:617435
HP:0009815	Aplasia/hypoplasia of the extremities	10381	TUBB3	ORPHA:300570
HP:0009815	Aplasia/hypoplasia of the extremities	84100	ARL6	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	79140	CCDC28B	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	582	BBS1	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	6045	RNF2	OMIM:619460
HP:0009815	Aplasia/hypoplasia of the extremities	7319	UBE2A	OMIM:300860
HP:0009815	Aplasia/hypoplasia of the extremities	7319	UBE2A	ORPHA:163956
HP:0009815	Aplasia/hypoplasia of the extremities	10087	CERT1	OMIM:616351
HP:0009815	Aplasia/hypoplasia of the extremities	6304	SATB1	OMIM:619229
HP:0009815	Aplasia/hypoplasia of the extremities	7874	USP7	ORPHA:500055
HP:0009815	Aplasia/hypoplasia of the extremities	8493	PPM1D	OMIM:617450
HP:0009815	Aplasia/hypoplasia of the extremities	57003	CCDC47	OMIM:618268
HP:0009815	Aplasia/hypoplasia of the extremities	8239	USP9X	ORPHA:480880
HP:0009815	Aplasia/hypoplasia of the extremities	8239	USP9X	OMIM:300968
HP:0009815	Aplasia/hypoplasia of the extremities	9894	TELO2	ORPHA:488642
HP:0009815	Aplasia/hypoplasia of the extremities	8364	H4C3	OMIM:619758
HP:0009815	Aplasia/hypoplasia of the extremities	5590	PRKCZ	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	2563	GABRD	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	23013	SPEN	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	8510	MMP23B	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	7798	LUZP1	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	6497	SKI	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	10630	PDPN	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	10277	UBE4B	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	8514	KCNAB2	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	473	RERE	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	63976	PRDM16	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	54897	CASZ1	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	3800	KIF5C	OMIM:615282
HP:0009815	Aplasia/hypoplasia of the extremities	81887	LAS1L	ORPHA:3459
HP:0009815	Aplasia/hypoplasia of the extremities	81887	LAS1L	OMIM:309585
HP:0009815	Aplasia/hypoplasia of the extremities	23162	MAPK8IP3	OMIM:618443
HP:0009815	Aplasia/hypoplasia of the extremities	2332	FMR1	ORPHA:261483
HP:0009815	Aplasia/hypoplasia of the extremities	9130	FAM50A	OMIM:300261
HP:0009815	Aplasia/hypoplasia of the extremities	8295	TRRAP	OMIM:618454
HP:0009815	Aplasia/hypoplasia of the extremities	3762	KCNJ5	ORPHA:37553
HP:0009815	Aplasia/hypoplasia of the extremities	1281	COL3A1	ORPHA:2500
HP:0009815	Aplasia/hypoplasia of the extremities	10075	HUWE1	OMIM:309590
HP:0009815	Aplasia/hypoplasia of the extremities	242	ALOX12B	OMIM:242100
HP:0009815	Aplasia/hypoplasia of the extremities	59344	ALOXE3	OMIM:242100
HP:0009815	Aplasia/hypoplasia of the extremities	5573	PRKAR1A	ORPHA:950
HP:0009815	Aplasia/hypoplasia of the extremities	5573	PRKAR1A	ORPHA:280651
HP:0009815	Aplasia/hypoplasia of the extremities	5144	PDE4D	ORPHA:950
HP:0009815	Aplasia/hypoplasia of the extremities	5144	PDE4D	ORPHA:280651
HP:0009815	Aplasia/hypoplasia of the extremities	5144	PDE4D	ORPHA:439822
HP:0009815	Aplasia/hypoplasia of the extremities	7840	ALMS1	ORPHA:64
HP:0009815	Aplasia/hypoplasia of the extremities	4882	NPR2	OMIM:602875
HP:0009815	Aplasia/hypoplasia of the extremities	100151683	RNU4ATAC	ORPHA:353298
HP:0009815	Aplasia/hypoplasia of the extremities	100151683	RNU4ATAC	OMIM:616651
HP:0009815	Aplasia/hypoplasia of the extremities	3981	LIG4	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	5896	RAG1	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	5897	RAG2	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	64421	DCLRE1C	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	100	ADA	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	3575	IL7R	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	3561	IL2RG	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	1788	DNMT3A	ORPHA:404443
HP:0009815	Aplasia/hypoplasia of the extremities	6473	SHOX	OMIM:127300
HP:0009815	Aplasia/hypoplasia of the extremities	1859	DYRK1A	ORPHA:464311
HP:0009815	Aplasia/hypoplasia of the extremities	55027	HEATR3	OMIM:620072
HP:0009815	Aplasia/hypoplasia of the extremities	79718	TBL1XR1	OMIM:602342
HP:0009815	Aplasia/hypoplasia of the extremities	79718	TBL1XR1	ORPHA:487825
HP:0009815	Aplasia/hypoplasia of the extremities	2316	FLNA	OMIM:300244
HP:0009815	Aplasia/hypoplasia of the extremities	4089	SMAD4	OMIM:139210
HP:0009815	Aplasia/hypoplasia of the extremities	54928	BPNT2	OMIM:614078
HP:0009815	Aplasia/hypoplasia of the extremities	23426	GRIP1	OMIM:617667
HP:0009815	Aplasia/hypoplasia of the extremities	25782	RAB3GAP2	OMIM:212720
HP:0009815	Aplasia/hypoplasia of the extremities	23384	SPECC1L	ORPHA:1519
HP:0009815	Aplasia/hypoplasia of the extremities	55650	PIGV	OMIM:239300
HP:0009815	Aplasia/hypoplasia of the extremities	427	ASAH1	ORPHA:333
HP:0009815	Aplasia/hypoplasia of the extremities	2239	GPC4	ORPHA:373
HP:0009815	Aplasia/hypoplasia of the extremities	2719	GPC3	ORPHA:373
HP:0009815	Aplasia/hypoplasia of the extremities	3039	HBA1	ORPHA:98791
HP:0009815	Aplasia/hypoplasia of the extremities	3040	HBA2	ORPHA:98791
HP:0009815	Aplasia/hypoplasia of the extremities	84295	PHF6	OMIM:301900
HP:0009815	Aplasia/hypoplasia of the extremities	84295	PHF6	ORPHA:127
HP:0009815	Aplasia/hypoplasia of the extremities	23483	TGDS	OMIM:616145
HP:0009815	Aplasia/hypoplasia of the extremities	650	BMP2	OMIM:617877
HP:0009815	Aplasia/hypoplasia of the extremities	8481	OFD1	ORPHA:2750
HP:0009815	Aplasia/hypoplasia of the extremities	50945	TBX22	ORPHA:921
HP:0009815	Aplasia/hypoplasia of the extremities	171023	ASXL1	OMIM:605039
HP:0009815	Aplasia/hypoplasia of the extremities	55697	VAC14	ORPHA:3472
HP:0009815	Aplasia/hypoplasia of the extremities	9509	ADAMTS2	OMIM:225410
HP:0009815	Aplasia/hypoplasia of the extremities	375056	MIA3	OMIM:619269
HP:0009815	Aplasia/hypoplasia of the extremities	57178	ZMIZ1	OMIM:618659
HP:0009815	Aplasia/hypoplasia of the extremities	2697	GJA1	ORPHA:93404
HP:0009815	Aplasia/hypoplasia of the extremities	4853	NOTCH2	ORPHA:955
HP:0009815	Aplasia/hypoplasia of the extremities	2313	FLI1	ORPHA:2308
HP:0009815	Aplasia/hypoplasia of the extremities	2778	GNAS	OMIM:103580
HP:0009815	Aplasia/hypoplasia of the extremities	2690	GHR	ORPHA:633
HP:0009815	Aplasia/hypoplasia of the extremities	64840	PORCN	OMIM:305600
HP:0009815	Aplasia/hypoplasia of the extremities	7480	WNT10B	OMIM:225300
HP:0009815	Aplasia/hypoplasia of the extremities	10262	SF3B4	OMIM:154400
HP:0009815	Aplasia/hypoplasia of the extremities	7476	WNT7A	OMIM:228930
HP:0009815	Aplasia/hypoplasia of the extremities	7476	WNT7A	ORPHA:2879
HP:0009815	Aplasia/hypoplasia of the extremities	7476	WNT7A	OMIM:276820
HP:0009815	Aplasia/hypoplasia of the extremities	54567	DLL4	OMIM:616589
HP:0009815	Aplasia/hypoplasia of the extremities	64093	SMOC1	OMIM:206920
HP:0009815	Aplasia/hypoplasia of the extremities	64093	SMOC1	ORPHA:1106
HP:0009815	Aplasia/hypoplasia of the extremities	1749	DLX5	OMIM:183600
HP:0009815	Aplasia/hypoplasia of the extremities	4038	LRP4	ORPHA:3258
HP:0009815	Aplasia/hypoplasia of the extremities	324	APC	ORPHA:3258
HP:0009815	Aplasia/hypoplasia of the extremities	2737	GLI3	ORPHA:93322
HP:0009815	Aplasia/hypoplasia of the extremities	59341	TRPV4	OMIM:606835
HP:0009815	Aplasia/hypoplasia of the extremities	5281	PIGF	OMIM:619356
HP:0009815	Aplasia/hypoplasia of the extremities	9241	NOG	ORPHA:140908
HP:0009815	Aplasia/hypoplasia of the extremities	415	ARSL	ORPHA:79345
HP:0009815	Aplasia/hypoplasia of the extremities	3756	KCNH1	OMIM:135500
HP:0009815	Aplasia/hypoplasia of the extremities	113246	C12orf57	OMIM:218340
HP:0009815	Aplasia/hypoplasia of the extremities	8626	TP63	OMIM:605289
HP:0009815	Aplasia/hypoplasia of the extremities	28981	IFT81	OMIM:617895
HP:0009815	Aplasia/hypoplasia of the extremities	9820	CUL7	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	23363	OBSL1	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	83987	CCDC8	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	55790	CSGALNACT1	OMIM:618870
HP:0009815	Aplasia/hypoplasia of the extremities	22858	CILK1	OMIM:612651
HP:0009815	Aplasia/hypoplasia of the extremities	56975	FAM20C	OMIM:259775
HP:0009815	Aplasia/hypoplasia of the extremities	3418	IDH2	ORPHA:296
HP:0009815	Aplasia/hypoplasia of the extremities	3417	IDH1	ORPHA:296
HP:0009815	Aplasia/hypoplasia of the extremities	60	ACTB	ORPHA:79107
HP:0009815	Aplasia/hypoplasia of the extremities	60	ACTB	ORPHA:64755
HP:0009815	Aplasia/hypoplasia of the extremities	2752	GLUL	OMIM:610015
HP:0009815	Aplasia/hypoplasia of the extremities	26160	IFT172	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	79809	TTC21B	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	6608	SMO	OMIM:241800
HP:0009815	Aplasia/hypoplasia of the extremities	1806	DPYD	ORPHA:1675
HP:0009815	Aplasia/hypoplasia of the extremities	1028	CDKN1C	ORPHA:85173
HP:0009815	Aplasia/hypoplasia of the extremities	5426	POLE	ORPHA:85173
HP:0009815	Aplasia/hypoplasia of the extremities	51594	NBAS	OMIM:614800
HP:0009815	Aplasia/hypoplasia of the extremities	51025	PAM16	OMIM:613320
HP:0009815	Aplasia/hypoplasia of the extremities	374654	KIF7	ORPHA:2189
HP:0009815	Aplasia/hypoplasia of the extremities	92002	CCNQ	ORPHA:140952
HP:0009815	Aplasia/hypoplasia of the extremities	567	B2M	OMIM:241600
HP:0009815	Aplasia/hypoplasia of the extremities	139285	AMER1	OMIM:300373
HP:0009815	Aplasia/hypoplasia of the extremities	3899	AFF3	OMIM:619297
HP:0009815	Aplasia/hypoplasia of the extremities	27125	AFF4	ORPHA:444077
HP:0009815	Aplasia/hypoplasia of the extremities	4233	MET	OMIM:607278
HP:0009815	Aplasia/hypoplasia of the extremities	7473	WNT3	OMIM:273395
HP:0009815	Aplasia/hypoplasia of the extremities	7473	WNT3	ORPHA:3301
HP:0009815	Aplasia/hypoplasia of the extremities	10804	GJB6	ORPHA:477
HP:0009815	Aplasia/hypoplasia of the extremities	2706	GJB2	ORPHA:477
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	ORPHA:2614
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	OMIM:161200
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	ORPHA:495818
HP:0009815	Aplasia/hypoplasia of the extremities	55148	UBR7	OMIM:619189
HP:0009815	Aplasia/hypoplasia of the extremities	6812	STXBP1	ORPHA:495818
HP:0009815	Aplasia/hypoplasia of the extremities	5879	RAC1	ORPHA:500159
HP:0009815	Aplasia/hypoplasia of the extremities	55768	NGLY1	ORPHA:404454
HP:0009815	Aplasia/hypoplasia of the extremities	9949	AMMECR1	OMIM:300990
HP:0009815	Aplasia/hypoplasia of the extremities	10588	MTHFS	OMIM:618367
HP:0009815	Aplasia/hypoplasia of the extremities	65250	CPLANE1	OMIM:277170
HP:0009815	Aplasia/hypoplasia of the extremities	55503	TRPV6	OMIM:618188
HP:0009815	Aplasia/hypoplasia of the extremities	815	CAMK2A	OMIM:617798
HP:0009815	Aplasia/hypoplasia of the extremities	9496	TBX4	OMIM:147891
HP:0009815	Aplasia/hypoplasia of the extremities	11128	POLR3A	OMIM:264090
HP:0009815	Aplasia/hypoplasia of the extremities	11128	POLR3A	ORPHA:3455
HP:0009815	Aplasia/hypoplasia of the extremities	22827	PUF60	ORPHA:508488
HP:0009815	Aplasia/hypoplasia of the extremities	8802	SUCLG1	ORPHA:17
HP:0009815	Aplasia/hypoplasia of the extremities	202018	TAPT1	OMIM:616897
HP:0009815	Aplasia/hypoplasia of the extremities	8792	TNFRSF11A	OMIM:602080
HP:0009815	Aplasia/hypoplasia of the extremities	2263	FGFR2	OMIM:101600
HP:0009815	Aplasia/hypoplasia of the extremities	7547	ZIC3	OMIM:314390
HP:0009815	Aplasia/hypoplasia of the extremities	8517	IKBKG	ORPHA:464
HP:0009815	Aplasia/hypoplasia of the extremities	1750	DLX6	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	7979	SEM1	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	8945	BTRC	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	58513	EPS15L1	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	6468	FBXW4	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	7021	TFAP2B	ORPHA:46627
HP:0009815	Aplasia/hypoplasia of the extremities	3481	IGF2	OMIM:180860
HP:0009815	Aplasia/hypoplasia of the extremities	2783	GNB2	OMIM:619503
HP:0009815	Aplasia/hypoplasia of the extremities	5932	RBBP8	OMIM:251255
HP:0009815	Aplasia/hypoplasia of the extremities	3480	IGF1R	ORPHA:73273
HP:0009815	Aplasia/hypoplasia of the extremities	2245	FGD1	OMIM:305400
HP:0009815	Aplasia/hypoplasia of the extremities	2245	FGD1	ORPHA:915
HP:0009815	Aplasia/hypoplasia of the extremities	124997	WDR81	OMIM:610185
HP:0009815	Aplasia/hypoplasia of the extremities	118429	ANTXR2	ORPHA:2176
HP:0009815	Aplasia/hypoplasia of the extremities	7681	MKRN3	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	3653	IPW	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	791114	PWRN1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	100033413	SNORD116-1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	8924	HERC2	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	145624	PWAR1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	23742	NPAP1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	338433	SNORD115-1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	55112	DYNC2I1	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	89891	DYNC2I2	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	23030	KDM4B	OMIM:619320
HP:0009815	Aplasia/hypoplasia of the extremities	79639	TMEM53	OMIM:619727
HP:0009815	Aplasia/hypoplasia of the extremities	55249	YY1AP1	ORPHA:79094
HP:0009815	Aplasia/hypoplasia of the extremities	10982	MAPRE2	OMIM:616734
HP:0009815	Aplasia/hypoplasia of the extremities	818	CAMK2G	OMIM:618522
HP:0009815	Aplasia/hypoplasia of the extremities	1778	DYNC1H1	OMIM:614563
HP:0009815	Aplasia/hypoplasia of the extremities	222663	SCUBE3	OMIM:619184
HP:0009815	Aplasia/hypoplasia of the extremities	80311	KLHL15	OMIM:300982
HP:0009815	Aplasia/hypoplasia of the extremities	10943	MSL3	OMIM:301032
HP:0009815	Aplasia/hypoplasia of the extremities	55012	PPP2R3C	OMIM:618419
HP:0009815	Aplasia/hypoplasia of the extremities	51763	INPP5K	ORPHA:559
HP:0009815	Aplasia/hypoplasia of the extremities	9244	CRLF1	OMIM:272430
HP:0009815	Aplasia/hypoplasia of the extremities	2254	FGF9	ORPHA:3237
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	OMIM:241410
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	OMIM:244460
HP:0009815	Aplasia/hypoplasia of the extremities	1857	DVL3	ORPHA:3107
HP:0009815	Aplasia/hypoplasia of the extremities	9791	PTDSS1	ORPHA:2658
HP:0009815	Aplasia/hypoplasia of the extremities	79753	SNIP1	OMIM:614501
HP:0009815	Aplasia/hypoplasia of the extremities	10236	HNRNPR	OMIM:620073
HP:0009815	Aplasia/hypoplasia of the extremities	285590	SH3PXD2B	OMIM:249420
HP:0009815	Aplasia/hypoplasia of the extremities	23522	KAT6B	ORPHA:85201
HP:0009815	Aplasia/hypoplasia of the extremities	3845	KRAS	ORPHA:3339
HP:0009815	Aplasia/hypoplasia of the extremities	28957	MRPS28	OMIM:618958
HP:0009815	Aplasia/hypoplasia of the extremities	23261	CAMTA1	OMIM:614756
HP:0009815	Aplasia/hypoplasia of the extremities	8450	CUL4B	ORPHA:85293
HP:0009815	Aplasia/hypoplasia of the extremities	5295	PIK3R1	ORPHA:3163
HP:0009815	Aplasia/hypoplasia of the extremities	10743	RAI1	OMIM:182290
HP:0009815	Aplasia/hypoplasia of the extremities	51322	WAC	ORPHA:466950
HP:0009815	Aplasia/hypoplasia of the extremities	147372	CCBE1	OMIM:235510
HP:0009815	Aplasia/hypoplasia of the extremities	29123	ANKRD11	OMIM:148050
HP:0009815	Aplasia/hypoplasia of the extremities	3094	HINT1	ORPHA:324442
HP:0009815	Aplasia/hypoplasia of the extremities	9759	HDAC4	OMIM:600430
HP:0009815	Aplasia/hypoplasia of the extremities	9578	CDC42BPB	OMIM:619841
HP:0009815	Aplasia/hypoplasia of the extremities	5191	PEX7	OMIM:266500
HP:0009815	Aplasia/hypoplasia of the extremities	5264	PHYH	OMIM:266500
HP:0009815	Aplasia/hypoplasia of the extremities	94005	PIGS	OMIM:618143
HP:0009815	Aplasia/hypoplasia of the extremities	341208	HEPHL1	OMIM:261990
HP:0009815	Aplasia/hypoplasia of the extremities	89970	RSPRY1	ORPHA:457395
HP:0009815	Aplasia/hypoplasia of the extremities	89970	RSPRY1	OMIM:616723
HP:0009815	Aplasia/hypoplasia of the extremities	54585	LZTFL1	OMIM:615994
HP:0009815	Aplasia/hypoplasia of the extremities	55628	ZNF407	OMIM:619557
HP:0009815	Aplasia/hypoplasia of the extremities	2146	EZH2	OMIM:277590
HP:0009815	Aplasia/hypoplasia of the extremities	79633	FAT4	OMIM:615546
HP:0009815	Aplasia/hypoplasia of the extremities	8642	DCHS1	OMIM:601390
HP:0009815	Aplasia/hypoplasia of the extremities	54496	PRMT7	ORPHA:464288
HP:0009815	Aplasia/hypoplasia of the extremities	6925	TCF4	OMIM:610954
HP:0009815	Aplasia/hypoplasia of the extremities	23288	IQCE	OMIM:617642
HP:0009815	Aplasia/hypoplasia of the extremities	79848	CSPP1	ORPHA:397715
HP:0009815	Aplasia/hypoplasia of the extremities	9786	KIAA0586	ORPHA:397715
HP:0009815	Aplasia/hypoplasia of the extremities	91179	SCARF2	OMIM:600920
HP:0009815	Aplasia/hypoplasia of the extremities	6662	SOX9	OMIM:114290
HP:0009815	Aplasia/hypoplasia of the extremities	374969	SVBP	OMIM:618569
HP:0009815	Aplasia/hypoplasia of the extremities	1327	COX4I1	OMIM:619060
HP:0009815	Aplasia/hypoplasia of the extremities	8936	WASF1	OMIM:618707
HP:0009815	Aplasia/hypoplasia of the extremities	4920	ROR2	OMIM:268310
HP:0009815	Aplasia/hypoplasia of the extremities	7355	SLC35A2	ORPHA:356961
HP:0009815	Aplasia/hypoplasia of the extremities	3977	LIFR	OMIM:601559
HP:0009815	Aplasia/hypoplasia of the extremities	9775	EIF4A3	OMIM:268305
HP:0009815	Aplasia/hypoplasia of the extremities	388015	RTL1	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	8788	DLK1	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	55384	MEG3	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	4750	NEK1	OMIM:263520
HP:0009815	Aplasia/hypoplasia of the extremities	727857	BHLHA9	ORPHA:3329
HP:0009815	Aplasia/hypoplasia of the extremities	727857	BHLHA9	ORPHA:1986
HP:0009815	Aplasia/hypoplasia of the extremities	57688	ZSWIM6	ORPHA:1827
HP:0009815	Aplasia/hypoplasia of the extremities	64327	LMBR1	ORPHA:988
HP:0009815	Aplasia/hypoplasia of the extremities	6469	SHH	ORPHA:988
HP:0009815	Aplasia/hypoplasia of the extremities	26123	TCTN3	ORPHA:2753
HP:0009815	Aplasia/hypoplasia of the extremities	6628	SNRPB	OMIM:117650
HP:0009815	Aplasia/hypoplasia of the extremities	9851	KIAA0753	OMIM:619479
HP:0009815	Aplasia/hypoplasia of the extremities	4982	TNFRSF11B	OMIM:239000
HP:0009815	Aplasia/hypoplasia of the extremities	5830	PEX5	OMIM:616716
HP:0009815	Aplasia/hypoplasia of the extremities	55777	MBD5	OMIM:156200
HP:0009815	Aplasia/hypoplasia of the extremities	5422	POLA1	OMIM:301030
HP:0009815	Aplasia/hypoplasia of the extremities	652	BMP4	OMIM:607932
HP:0009815	Aplasia/hypoplasia of the extremities	8085	KMT2D	ORPHA:2322
HP:0009815	Aplasia/hypoplasia of the extremities	7403	KDM6A	ORPHA:2322
HP:0009815	Aplasia/hypoplasia of the extremities	51053	GMNN	OMIM:616835
HP:0009815	Aplasia/hypoplasia of the extremities	22995	CEP152	OMIM:613823
HP:0009815	Aplasia/hypoplasia of the extremities	84992	PIGY	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	84992	PIGY	OMIM:616809
HP:0009815	Aplasia/hypoplasia of the extremities	84720	PIGO	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	84720	PIGO	OMIM:614749
HP:0009815	Aplasia/hypoplasia of the extremities	93210	PGAP3	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	93210	PGAP3	OMIM:615716
HP:0009815	Aplasia/hypoplasia of the extremities	284098	PIGW	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	27315	PGAP2	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	27315	PGAP2	OMIM:614207
HP:0009815	Aplasia/hypoplasia of the extremities	57020	VPS35L	OMIM:619135
HP:0009815	Aplasia/hypoplasia of the extremities	2972	BRF1	OMIM:616202
HP:0009815	Aplasia/hypoplasia of the extremities	29929	ALG6	ORPHA:79320
HP:0009815	Aplasia/hypoplasia of the extremities	9719	ADAMTSL2	OMIM:231050
HP:0009815	Aplasia/hypoplasia of the extremities	3549	IHH	OMIM:112500
HP:0009815	Aplasia/hypoplasia of the extremities	23556	PIGN	ORPHA:280633
HP:0009815	Aplasia/hypoplasia of the extremities	219844	HYLS1	OMIM:236680
HP:0009815	Aplasia/hypoplasia of the extremities	2131	EXT1	ORPHA:321
HP:0009815	Aplasia/hypoplasia of the extremities	2132	EXT2	ORPHA:321
HP:0009815	Aplasia/hypoplasia of the extremities	249	ALPL	OMIM:241500
HP:0009815	Aplasia/hypoplasia of the extremities	2335	FN1	ORPHA:93315
HP:0009815	Aplasia/hypoplasia of the extremities	23394	ADNP	OMIM:615873
HP:0009815	Aplasia/hypoplasia of the extremities	5479	PPIB	OMIM:259440
HP:0009815	Aplasia/hypoplasia of the extremities	3911	LAMA5	OMIM:620076
HP:0009815	Aplasia/hypoplasia of the extremities	2767	GNA11	ORPHA:1556
HP:0009815	Aplasia/hypoplasia of the extremities	151188	ARL6IP6	ORPHA:1556
HP:0009815	Aplasia/hypoplasia of the extremities	8241	RBM10	ORPHA:2886
HP:0009815	Aplasia/hypoplasia of the extremities	545	ATR	OMIM:210600
HP:0009815	Aplasia/hypoplasia of the extremities	1146	CHRNG	OMIM:265000
HP:0009815	Aplasia/hypoplasia of the extremities	81620	CDT1	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	81620	CDT1	OMIM:613804
HP:0009815	Aplasia/hypoplasia of the extremities	5000	ORC4	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	5000	ORC4	OMIM:613800
HP:0009815	Aplasia/hypoplasia of the extremities	990	CDC6	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	990	CDC6	OMIM:613805
HP:0009815	Aplasia/hypoplasia of the extremities	8318	CDC45	OMIM:617063
HP:0009815	Aplasia/hypoplasia of the extremities	4998	ORC1	OMIM:224690
HP:0009815	Aplasia/hypoplasia of the extremities	23594	ORC6	OMIM:613803
HP:0009815	Aplasia/hypoplasia of the extremities	5980	REV3L	ORPHA:570
HP:0009815	Aplasia/hypoplasia of the extremities	23129	PLXND1	ORPHA:570
HP:0009815	Aplasia/hypoplasia of the extremities	4318	MMP9	ORPHA:1040
HP:0009815	Aplasia/hypoplasia of the extremities	4322	MMP13	ORPHA:1040
HP:0009815	Aplasia/hypoplasia of the extremities	6910	TBX5	ORPHA:392
HP:0009815	Aplasia/hypoplasia of the extremities	7140	TNNT3	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	4621	MYH3	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	7169	TPM2	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	259232	NALCN	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	7136	TNNI2	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	672	BRCA1	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	10459	MAD2L2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	7516	XRCC2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	29089	UBE2T	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	675	BRCA2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	55120	FANCL	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2177	FANCD2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2175	FANCA	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2187	FANCB	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2176	FANCC	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2178	FANCE	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2188	FANCF	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2189	FANCG	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	5888	RAD51	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	5889	RAD51C	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	55159	RFWD3	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	83990	BRIP1	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	57697	FANCM	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	79728	PALB2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	84464	SLX4	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2072	ERCC4	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	55215	FANCI	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	7040	TGFB1	ORPHA:1328
HP:0009815	Aplasia/hypoplasia of the extremities	60681	FKBP10	ORPHA:1149
HP:0009815	Aplasia/hypoplasia of the extremities	2260	FGFR1	ORPHA:2117
HP:0009815	Aplasia/hypoplasia of the extremities	9555	MACROH2A1	ORPHA:1275
HP:0009815	Aplasia/hypoplasia of the extremities	5307	PITX1	ORPHA:1275
HP:0009815	Aplasia/hypoplasia of the extremities	57167	SALL4	ORPHA:959
HP:0009815	Aplasia/hypoplasia of the extremities	1717	DHCR7	ORPHA:818
HP:0009815	Aplasia/hypoplasia of the extremities	538	ATP7A	ORPHA:198
HP:0009815	Aplasia/hypoplasia of the extremities	9939	RBM8A	ORPHA:3320
HP:0009815	Aplasia/hypoplasia of the extremities	9939	RBM8A	OMIM:274000
HP:0009815	Aplasia/hypoplasia of the extremities	9896	FIG4	OMIM:216340
HP:0009815	Aplasia/hypoplasia of the extremities	3459	IFNGR1	OMIM:209950
HP:0009815	Aplasia/hypoplasia of the extremities	1836	SLC26A2	OMIM:226900
HP:0009815	Aplasia/hypoplasia of the extremities	3425	IDUA	OMIM:607014
HP:0009815	Aplasia/hypoplasia of the extremities	10940	POP1	OMIM:617396
HP:0009815	Aplasia/hypoplasia of the extremities	26146	TRAF3IP1	OMIM:616629
HP:0009815	Aplasia/hypoplasia of the extremities	1718	DHCR24	OMIM:602398
HP:0009815	Aplasia/hypoplasia of the extremities	57539	WDR35	OMIM:613610
HP:0009815	Aplasia/hypoplasia of the extremities	57539	WDR35	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	145173	B3GLCT	ORPHA:709
HP:0009815	Aplasia/hypoplasia of the extremities	145173	B3GLCT	OMIM:261540
HP:0009815	Aplasia/hypoplasia of the extremities	10586	MAB21L2	OMIM:615877
HP:0009815	Aplasia/hypoplasia of the extremities	755	CFAP410	OMIM:602271
HP:0009815	Aplasia/hypoplasia of the extremities	8540	AGPS	OMIM:600121
HP:0009815	Aplasia/hypoplasia of the extremities	8443	GNPAT	OMIM:222765
HP:0009815	Aplasia/hypoplasia of the extremities	2317	FLNB	ORPHA:1190
HP:0009815	Aplasia/hypoplasia of the extremities	2317	FLNB	OMIM:108721
HP:0009815	Aplasia/hypoplasia of the extremities	2317	FLNB	OMIM:108720
HP:0009815	Aplasia/hypoplasia of the extremities	8942	KYNU	OMIM:617661
HP:0009815	Aplasia/hypoplasia of the extremities	114803	MYSM1	OMIM:618116
HP:0009815	Aplasia/hypoplasia of the extremities	176	ACAN	OMIM:612813
HP:0009815	Aplasia/hypoplasia of the extremities	176	ACAN	ORPHA:171866
HP:0009815	Aplasia/hypoplasia of the extremities	112752	IFT43	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	112752	IFT43	OMIM:614099
HP:0009815	Aplasia/hypoplasia of the extremities	51098	IFT52	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	55764	IFT122	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	55764	IFT122	OMIM:218330
HP:0009815	Aplasia/hypoplasia of the extremities	57728	WDR19	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	57728	WDR19	OMIM:614376
HP:0009815	Aplasia/hypoplasia of the extremities	9382	COG1	OMIM:611209
HP:0009815	Aplasia/hypoplasia of the extremities	9382	COG1	ORPHA:263508
HP:0009815	Aplasia/hypoplasia of the extremities	6023	RMRP	ORPHA:175
HP:0009815	Aplasia/hypoplasia of the extremities	6023	RMRP	OMIM:607095
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	ORPHA:263463
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	OMIM:143095
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	OMIM:245600
HP:0009815	Aplasia/hypoplasia of the extremities	10082	GPC6	OMIM:258315
HP:0009815	Aplasia/hypoplasia of the extremities	10082	GPC6	ORPHA:93329
HP:0009815	Aplasia/hypoplasia of the extremities	90993	CREB3L1	OMIM:616229
HP:0009815	Aplasia/hypoplasia of the extremities	79087	ALG12	OMIM:607143
HP:0009815	Aplasia/hypoplasia of the extremities	2261	FGFR3	ORPHA:15
HP:0009815	Aplasia/hypoplasia of the extremities	2261	FGFR3	OMIM:616482
HP:0009815	Aplasia/hypoplasia of the extremities	2261	FGFR3	OMIM:100800
HP:0009815	Aplasia/hypoplasia of the extremities	1280	COL2A1	OMIM:156550
HP:0009815	Aplasia/hypoplasia of the extremities	1280	COL2A1	OMIM:151210
HP:0009815	Aplasia/hypoplasia of the extremities	372	ARCN1	OMIM:617164
HP:0009815	Aplasia/hypoplasia of the extremities	10013	HDAC6	OMIM:300863
HP:0009815	Aplasia/hypoplasia of the extremities	10013	HDAC6	ORPHA:163966
HP:0009815	Aplasia/hypoplasia of the extremities	5745	PTH1R	ORPHA:50945
HP:0009815	Aplasia/hypoplasia of the extremities	4297	KMT2A	ORPHA:319182
HP:0009815	Aplasia/hypoplasia of the extremities	1301	COL11A1	OMIM:228520
HP:0009815	Aplasia/hypoplasia of the extremities	1301	COL11A1	ORPHA:440354
HP:0009815	Aplasia/hypoplasia of the extremities	2475	MTOR	OMIM:616638
HP:0009815	Aplasia/hypoplasia of the extremities	3930	LBR	OMIM:618019
HP:0009815	Aplasia/hypoplasia of the extremities	3930	LBR	OMIM:215140
HP:0009815	Aplasia/hypoplasia of the extremities	3930	LBR	ORPHA:1426
HP:0009815	Aplasia/hypoplasia of the extremities	5593	PRKG2	OMIM:619638
HP:0009815	Aplasia/hypoplasia of the extremities	5593	PRKG2	OMIM:619636
HP:0009815	Aplasia/hypoplasia of the extremities	91461	PKDCC	OMIM:618821
HP:0009815	Aplasia/hypoplasia of the extremities	4796	TONSL	ORPHA:93357
HP:0009815	Aplasia/hypoplasia of the extremities	4796	TONSL	OMIM:271510
HP:0009815	Aplasia/hypoplasia of the extremities	145258	GSC	OMIM:602471
HP:0009815	Aplasia/hypoplasia of the extremities	51360	MBTPS2	OMIM:301014
HP:0009815	Aplasia/hypoplasia of the extremities	79796	ALG9	ORPHA:79328
HP:0009815	Aplasia/hypoplasia of the extremities	3636	INPPL1	OMIM:258480
HP:0009815	Aplasia/hypoplasia of the extremities	5130	PCYT1A	ORPHA:85167
HP:0009815	Aplasia/hypoplasia of the extremities	5130	PCYT1A	OMIM:608940
HP:0009815	Aplasia/hypoplasia of the extremities	9702	CEP57	OMIM:614114
HP:0009815	Aplasia/hypoplasia of the extremities	23387	SIK3	OMIM:618162
HP:0009815	Aplasia/hypoplasia of the extremities	153241	CEP120	OMIM:616300
HP:0009815	Aplasia/hypoplasia of the extremities	10491	CRTAP	OMIM:610682
HP:0009815	Aplasia/hypoplasia of the extremities	7474	WNT5A	OMIM:180700
HP:0009815	Aplasia/hypoplasia of the extremities	1855	DVL1	OMIM:180700
HP:0009815	Aplasia/hypoplasia of the extremities	10682	EBP	OMIM:302960
HP:0009815	Aplasia/hypoplasia of the extremities	1513	CTSK	ORPHA:763
HP:0009815	Aplasia/hypoplasia of the extremities	26229	B3GAT3	OMIM:245600
HP:0009815	Aplasia/hypoplasia of the extremities	6913	TBX15	OMIM:260660
HP:0009815	Aplasia/hypoplasia of the extremities	81570	CLPB	OMIM:616271
HP:0009815	Aplasia/hypoplasia of the extremities	2535	FZD2	ORPHA:93328
HP:0009815	Aplasia/hypoplasia of the extremities	57560	IFT80	OMIM:611263
HP:0009815	Aplasia/hypoplasia of the extremities	25886	POC1A	OMIM:614813
HP:0009815	Aplasia/hypoplasia of the extremities	871	SERPINH1	OMIM:613848
HP:0009815	Aplasia/hypoplasia of the extremities	54808	DYM	ORPHA:239
HP:0009815	Aplasia/hypoplasia of the extremities	2879	GPX4	OMIM:250220
HP:0009815	Aplasia/hypoplasia of the extremities	56992	KIF15	ORPHA:261323
HP:0009815	Aplasia/hypoplasia of the extremities	6598	SMARCB1	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6659	SOX4	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	5977	DPF2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6601	SMARCC2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6602	SMARCD1	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	196528	ARID2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	4848	CNOT2	OMIM:618608
HP:0009815	Aplasia/hypoplasia of the extremities	5324	PLAG1	ORPHA:397590
HP:0009815	Aplasia/hypoplasia of the extremities	8091	HMGA2	ORPHA:397590
HP:0009815	Aplasia/hypoplasia of the extremities	2122	MECOM	OMIM:616738
HP:0009815	Aplasia/hypoplasia of the extremities	8820	HESX1	OMIM:182230
HP:0009815	Aplasia/hypoplasia of the extremities	8820	HESX1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	26154	ABCA12	OMIM:242500
HP:0009815	Aplasia/hypoplasia of the extremities	9131	AIFM1	OMIM:300232
HP:0009815	Aplasia/hypoplasia of the extremities	6134	RPL10	OMIM:300998
HP:0009815	Aplasia/hypoplasia of the extremities	6134	RPL10	ORPHA:459070
HP:0009815	Aplasia/hypoplasia of the extremities	5626	PROP1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	89884	LHX4	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	8022	LHX3	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	5449	POU1F1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	444	ASPH	OMIM:601552
HP:0009815	Aplasia/hypoplasia of the extremities	164	AP1G1	OMIM:619467
HP:0009815	Aplasia/hypoplasia of the extremities	1144	CHRND	OMIM:253290
HP:0009815	Aplasia/hypoplasia of the extremities	1134	CHRNA1	OMIM:253290
HP:0009815	Aplasia/hypoplasia of the extremities	3736	KCNA1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	9091	PIGQ	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2775	GNAO1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	81603	TRIM8	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2902	GRIN1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	79751	SLC25A22	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	150094	SIK1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	8573	CASK	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	23312	DMXL2	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2917	GRM7	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	170302	ARX	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	11284	PNKP	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	6326	SCN2A	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	51227	PIGP	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	6324	SCN1B	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	4761	NEUROD2	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2019	EN1	OMIM:619218
HP:0009815	Aplasia/hypoplasia of the extremities	6926	TBX3	OMIM:181450
HP:0009815	Aplasia/hypoplasia of the extremities	8200	GDF5	OMIM:113100
HP:0009815	Aplasia/hypoplasia of the extremities	4212	MEIS2	OMIM:600987
HP:0009815	Aplasia/hypoplasia of the extremities	10265	IRX5	OMIM:611174
HP:0009815	Aplasia/hypoplasia of the extremities	79659	DYNC2H1	OMIM:613091
HP:0009815	Aplasia/hypoplasia of the extremities	55636	CHD7	OMIM:214800
HP:0009815	Aplasia/hypoplasia of the extremities	50814	NSDHL	OMIM:308050
HP:0009815	Aplasia/hypoplasia of the extremities	9742	IFT140	OMIM:266920
HP:0009815	Aplasia/hypoplasia of the extremities	3239	HOXD13	ORPHA:93409
HP:0009815	Aplasia/hypoplasia of the extremities	4613	MYCN	ORPHA:391641
HP:0009815	Aplasia/hypoplasia of the extremities	10847	SRCAP	OMIM:136140
HP:0009815	Aplasia/hypoplasia of the extremities	860	RUNX2	OMIM:119600
HP:0009815	Aplasia/hypoplasia of the extremities	860	RUNX2	OMIM:156510
HP:0009815	Aplasia/hypoplasia of the extremities	27152	INTU	OMIM:617926
HP:0009815	Aplasia/hypoplasia of the extremities	9935	MAFB	ORPHA:233
HP:0009815	Aplasia/hypoplasia of the extremities	1123	CHN1	ORPHA:233
HP:0009815	Aplasia/hypoplasia of the extremities	54888	NSUN2	ORPHA:235
HP:0009815	Aplasia/hypoplasia of the extremities	5925	RB1	ORPHA:1587
HP:0009815	Aplasia/hypoplasia of the extremities	80144	FRAS1	OMIM:219000
HP:0009815	Aplasia/hypoplasia of the extremities	6885	MAP3K7	ORPHA:1826
HP:0009815	Aplasia/hypoplasia of the extremities	5293	PIK3CD	ORPHA:221139
HP:0009815	Aplasia/hypoplasia of the extremities	90417	KNSTRN	ORPHA:221139
HP:0009815	Aplasia/hypoplasia of the extremities	5727	PTCH1	OMIM:109400
HP:0009815	Aplasia/hypoplasia of the extremities	7204	TRIO	ORPHA:476126
HP:0009815	Aplasia/hypoplasia of the extremities	6651	SON	ORPHA:500150
HP:0009815	Aplasia/hypoplasia of the extremities	340419	RSPO2	OMIM:618022
HP:0009815	Aplasia/hypoplasia of the extremities	8452	CUL3	OMIM:619239
HP:0009815	Aplasia/hypoplasia of the extremities	5718	PSMD12	OMIM:617516
HP:0009815	Aplasia/hypoplasia of the extremities	6223	RPS19	OMIM:105650
HP:0009815	Aplasia/hypoplasia of the extremities	6223	RPS19	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6135	RPL11	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6138	RPL15	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6229	RPS24	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6125	RPL5	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6204	RPS10	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6224	RPS20	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6165	RPL35A	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	2623	GATA1	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6232	RPS27	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6231	RPS26	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	11224	RPL35	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6160	RPL31	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6218	RPS17	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6201	RPS7	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6155	RPL27	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6210	RPS15A	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	90121	TSR2	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6141	RPL18	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6235	RPS29	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6234	RPS28	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	51816	ADA2	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	54101	RIPK4	OMIM:263650
HP:0009815	Aplasia/hypoplasia of the extremities	54101	RIPK4	ORPHA:1234
HP:0009815	Aplasia/hypoplasia of the extremities	2255	FGF10	ORPHA:2363
HP:0009815	Aplasia/hypoplasia of the extremities	29980	DONSON	OMIM:251230
HP:0009815	Aplasia/hypoplasia of the extremities	23028	KDM1A	OMIM:616728
HP:0009815	Aplasia/hypoplasia of the extremities	23028	KDM1A	ORPHA:477993
HP:0009815	Aplasia/hypoplasia of the extremities	29998	BICRA	OMIM:619325
HP:0009815	Aplasia/hypoplasia of the extremities	1723	DHODH	OMIM:263750
HP:0009815	Aplasia/hypoplasia of the extremities	526	ATP6V1B2	ORPHA:79499
HP:0009815	Aplasia/hypoplasia of the extremities	54880	BCOR	ORPHA:2712
HP:0009815	Aplasia/hypoplasia of the extremities	3209	HOXA13	ORPHA:2438
HP:0009815	Aplasia/hypoplasia of the extremities	3209	HOXA13	OMIM:176305
HP:0009815	Aplasia/hypoplasia of the extremities	7020	TFAP2A	OMIM:113620
HP:0009815	Aplasia/hypoplasia of the extremities	10815	CPLX1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	10815	CPLX1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	54872	PIGG	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	7469	NELFA	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	1487	CTBP1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	1487	CTBP1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	3954	LETM1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	3954	LETM1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	7468	NSD2	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	7468	NSD2	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	25942	SIN3A	OMIM:613406
HP:0009815	Aplasia/hypoplasia of the extremities	53834	FGFRL1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	1387	CREBBP	OMIM:180849
HP:0009815	Aplasia/hypoplasia of the extremities	2033	EP300	OMIM:180849
HP:0009815	Aplasia/hypoplasia of the extremities	80036	TRPM3	OMIM:620224
HP:0009815	Aplasia/hypoplasia of the extremities	374879	ZNF699	OMIM:619488
HP:0009815	Aplasia/hypoplasia of the extremities	7750	ZMYM2	OMIM:619522
HP:0009815	Aplasia/hypoplasia of the extremities	407975	MIR17HG	ORPHA:391646
HP:0009815	Aplasia/hypoplasia of the extremities	50515	CHST11	OMIM:618167
HP:0009815	Aplasia/hypoplasia of the extremities	4256	MGP	OMIM:245150
HP:0009815	Aplasia/hypoplasia of the extremities	9968	MED12	OMIM:300895
HP:0009815	Aplasia/hypoplasia of the extremities	84823	LMNB2	OMIM:616540
HP:0009815	Aplasia/hypoplasia of the extremities	2200	FBN1	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	4053	LTBP2	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	81794	ADAMTS10	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	26100	WIPI2	OMIM:618453
HP:0009815	Aplasia/hypoplasia of the extremities	1147	CHUK	OMIM:613630
HP:0009815	Aplasia/hypoplasia of the extremities	9060	PAPSS2	OMIM:612847
HP:0009815	Aplasia/hypoplasia of the extremities	1009	CDH11	ORPHA:1299
HP:0009815	Aplasia/hypoplasia of the extremities	2186	BPTF	ORPHA:529962
HP:0009815	Aplasia/hypoplasia of the extremities	51604	PIGT	ORPHA:369837
HP:0009815	Aplasia/hypoplasia of the extremities	65992	DDRGK1	OMIM:602557
HP:0009815	Aplasia/hypoplasia of the extremities	65992	DDRGK1	ORPHA:93352
HP:0009815	Aplasia/hypoplasia of the extremities	2720	GLB1	OMIM:230600
HP:0009815	Aplasia/hypoplasia of the extremities	2571	GAD1	OMIM:619124
HP:0009815	Aplasia/hypoplasia of the extremities	23169	SLC35D1	OMIM:269250
HP:0009815	Aplasia/hypoplasia of the extremities	55343	SLC35C1	ORPHA:99843
HP:0009815	Aplasia/hypoplasia of the extremities	1297	COL9A1	ORPHA:166002
HP:0009815	Aplasia/hypoplasia of the extremities	1298	COL9A2	ORPHA:166002
HP:0009815	Aplasia/hypoplasia of the extremities	5331	PLCB3	OMIM:618961
HP:0009815	Aplasia/hypoplasia of the extremities	2530	FUT8	OMIM:618005
HP:0009815	Aplasia/hypoplasia of the extremities	7518	XRCC4	OMIM:616541
HP:0009815	Aplasia/hypoplasia of the extremities	8218	CLTCL1	ORPHA:453510
HP:0009815	Aplasia/hypoplasia of the extremities	1277	COL1A1	OMIM:166210
HP:0009815	Aplasia/hypoplasia of the extremities	1278	COL1A2	OMIM:166210
HP:0009815	Aplasia/hypoplasia of the extremities	64116	SLC39A8	ORPHA:468699
HP:0009815	Aplasia/hypoplasia of the extremities	5160	PDHA1	ORPHA:79243
HP:0009815	Aplasia/hypoplasia of the extremities	27077	B9D1	OMIM:614209
HP:0009815	Aplasia/hypoplasia of the extremities	8813	DPM1	ORPHA:79322
HP:0009815	Aplasia/hypoplasia of the extremities	51199	NIN	ORPHA:319675
HP:0009815	Aplasia/hypoplasia of the extremities	3339	HSPG2	ORPHA:1865
HP:0009815	Aplasia/hypoplasia of the extremities	93627	TBCK	ORPHA:488632
HP:0009815	Aplasia/hypoplasia of the extremities	26227	PHGDH	OMIM:256520
HP:0009815	Aplasia/hypoplasia of the extremities	9488	PIGB	OMIM:618580
HP:0009815	Aplasia/hypoplasia of the extremities	10617	STAMBP	OMIM:614261
HP:0009815	Aplasia/hypoplasia of the extremities	51412	ACTL6B	OMIM:618470
HP:0009815	Aplasia/hypoplasia of the extremities	57465	TBC1D24	OMIM:220500
HP:0009815	Aplasia/hypoplasia of the extremities	57465	TBC1D24	ORPHA:79500
HP:0009815	Aplasia/hypoplasia of the extremities	613	BCR	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	1399	CRKL	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	5594	MAPK1	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	55784	MCTP2	ORPHA:1596
HP:0009815	Aplasia/hypoplasia of the extremities	4000	LMNA	OMIM:248370
HP:0009815	Aplasia/hypoplasia of the extremities	4000	LMNA	ORPHA:90153
HP:0009815	Aplasia/hypoplasia of the extremities	3764	KCNJ8	ORPHA:1517
HP:0009815	Aplasia/hypoplasia of the extremities	10060	ABCC9	ORPHA:1517
HP:0009815	Aplasia/hypoplasia of the extremities	10651	MTX2	ORPHA:90153
HP:0009815	Aplasia/hypoplasia of the extremities	10269	ZMPSTE24	ORPHA:90154
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	ORPHA:2963
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	ORPHA:2095
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	OMIM:612289
HP:0009815	Aplasia/hypoplasia of the extremities	4784	NFIX	OMIM:602535
HP:0009815	Aplasia/hypoplasia of the extremities	24140	FTSJ1	OMIM:309549
HP:0009815	Aplasia/hypoplasia of the extremities	64359	NXN	ORPHA:1507
HP:0009815	Aplasia/hypoplasia of the extremities	8289	ARID1A	OMIM:614607
HP:0009815	Aplasia/hypoplasia of the extremities	5566	PRKACA	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	5567	PRKACB	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	2735	GLI1	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	2121	EVC	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	51626	DYNC2LI1	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	132884	EVC2	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	5116	PCNT	OMIM:210720
HP:0009815	Aplasia/hypoplasia of the extremities	9419	CRIPT	OMIM:615789
HP:0009815	Aplasia/hypoplasia of the extremities	26040	SETBP1	OMIM:269150
HP:0009815	Aplasia/hypoplasia of the extremities	26040	SETBP1	ORPHA:798
HP:0009815	Aplasia/hypoplasia of the extremities	54	ACP5	ORPHA:1855
HP:0009815	Aplasia/hypoplasia of the extremities	6197	RPS6KA3	ORPHA:192
HP:0009815	Aplasia/hypoplasia of the extremities	1300	COL10A1	OMIM:156500
HP:0009815	Aplasia/hypoplasia of the extremities	2677	GGCX	OMIM:277450
HP:0009815	Aplasia/hypoplasia of the extremities	10283	CWC27	OMIM:250410
HP:0009815	Aplasia/hypoplasia of the extremities	26137	ZBTB20	OMIM:259050
HP:0009815	Aplasia/hypoplasia of the extremities	60401	EDA2R	ORPHA:181
HP:0009815	Aplasia/hypoplasia of the extremities	1896	EDA	ORPHA:181
HP:0009815	Aplasia/hypoplasia of the extremities	5159	PDGFRB	OMIM:601812
HP:0009815	Aplasia/hypoplasia of the extremities	28952	CCDC22	OMIM:300963
HP:0009815	Aplasia/hypoplasia of the extremities	182	JAG1	OMIM:118450
HP:0009815	Aplasia/hypoplasia of the extremities	7291	TWIST1	OMIM:617746
HP:0009815	Aplasia/hypoplasia of the extremities	6605	SMARCE1	OMIM:616938
HP:0009815	Aplasia/hypoplasia of the extremities	8242	KDM5C	OMIM:300534
HP:0009815	Aplasia/hypoplasia of the extremities	1186	CLCN7	ORPHA:53
HP:0009815	Aplasia/hypoplasia of the extremities	2702	GJA5	OMIM:612474
HP:0009815	Aplasia/hypoplasia of the extremities	2703	GJA8	OMIM:612474
HP:0009815	Aplasia/hypoplasia of the extremities	6664	SOX11	OMIM:615866
HP:0009815	Aplasia/hypoplasia of the extremities	55081	IFT57	OMIM:617927
HP:0009815	Aplasia/hypoplasia of the extremities	865	CBFB	OMIM:620099
HP:0009815	Aplasia/hypoplasia of the extremities	23476	BRD4	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	9126	SMC3	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	8243	SMC1A	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	55869	HDAC8	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	5885	RAD21	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	26224	FBXL3	OMIM:606220
HP:0009815	Aplasia/hypoplasia of the extremities	55612	FERMT1	ORPHA:2908
HP:0009815	Aplasia/hypoplasia of the extremities	8823	FGF16	OMIM:309630
HP:0009815	Aplasia/hypoplasia of the extremities	2137	EXTL3	ORPHA:508533
HP:0009815	Aplasia/hypoplasia of the extremities	9361	LONP1	OMIM:600373
HP:0009815	Aplasia/hypoplasia of the extremities	9361	LONP1	ORPHA:1458
HP:0009815	Aplasia/hypoplasia of the extremities	4921	DDR2	OMIM:271665
HP:0009815	Aplasia/hypoplasia of the extremities	55733	HHAT	OMIM:600092
HP:0009815	Aplasia/hypoplasia of the extremities	55733	HHAT	ORPHA:1422
HP:0009815	Aplasia/hypoplasia of the extremities	5447	POR	ORPHA:95699
HP:0009815	Aplasia/hypoplasia of the extremities	149775	GNAS-AS1	OMIM:603233
HP:0009815	Aplasia/hypoplasia of the extremities	8675	STX16	OMIM:603233
HP:0009815	Aplasia/hypoplasia of the extremities	117581	TWIST2	OMIM:200110
HP:0009815	Aplasia/hypoplasia of the extremities	10225	CD96	OMIM:211750
HP:0009815	Aplasia/hypoplasia of the extremities	64175	P3H1	OMIM:610915
HP:0009815	Aplasia/hypoplasia of the extremities	64131	XYLT1	OMIM:615777
HP:0009815	Aplasia/hypoplasia of the extremities	4054	LTBP3	ORPHA:969
HP:0009815	Aplasia/hypoplasia of the extremities	5139	PDE3A	OMIM:112410
HP:0009815	Aplasia/hypoplasia of the extremities	5139	PDE3A	ORPHA:1276
HP:0009815	Aplasia/hypoplasia of the extremities	633	BGN	OMIM:300106
HP:0009815	Aplasia/hypoplasia of the extremities	4810	NHS	ORPHA:627
HP:0009815	Aplasia/hypoplasia of the extremities	1299	COL9A3	OMIM:600969
HP:0009815	Aplasia/hypoplasia of the extremities	4148	MATN3	OMIM:607078
HP:0009815	Aplasia/hypoplasia of the extremities	126792	B3GALT6	OMIM:271640
HP:0009815	Aplasia/hypoplasia of the extremities	55252	ASXL2	OMIM:617190
HP:0009815	Aplasia/hypoplasia of the extremities	1302	COL11A2	ORPHA:1427
HP:0009815	Aplasia/hypoplasia of the extremities	91252	SLC39A13	OMIM:612350
HP:0009815	Aplasia/hypoplasia of the extremities	25871	NEPRO	OMIM:618853
HP:0009815	Aplasia/hypoplasia of the extremities	64682	ANAPC1	ORPHA:221008
HP:0009815	Aplasia/hypoplasia of the extremities	90	ACVR1	ORPHA:337
HP:0009815	Aplasia/hypoplasia of the extremities	7994	KAT6A	OMIM:616268
HP:0009815	Aplasia/hypoplasia of the extremities	9487	PIGL	ORPHA:3474
HP:0009815	Aplasia/hypoplasia of the extremities	51715	RAB23	OMIM:201000
HP:0009815	Aplasia/hypoplasia of the extremities	1954	MEGF8	OMIM:614976
HP:0009815	Aplasia/hypoplasia of the extremities	6299	SALL1	OMIM:107480
HP:0009815	Aplasia/hypoplasia of the extremities	6299	SALL1	ORPHA:857
HP:0009815	Aplasia/hypoplasia of the extremities	51339	DACT1	ORPHA:857
HP:0009815	Aplasia/hypoplasia of the extremities	51776	MAP3K20	ORPHA:488232
HP:0009815	Aplasia/hypoplasia of the extremities	64374	SIL1	OMIM:248800
HP:0009815	Aplasia/hypoplasia of the extremities	25839	COG4	OMIM:618150
HP:0009815	Aplasia/hypoplasia of the extremities	5744	PTHLH	OMIM:613382
HP:0009815	Aplasia/hypoplasia of the extremities	5744	PTHLH	ORPHA:93387
HP:0009815	Aplasia/hypoplasia of the extremities	124583	CANT1	OMIM:251450
HP:0009815	Aplasia/hypoplasia of the extremities	3759	KCNJ2	OMIM:170390
HP:0009815	Aplasia/hypoplasia of the extremities	22856	CHSY1	OMIM:605282
HP:0009815	Aplasia/hypoplasia of the extremities	157680	VPS13B	OMIM:216550
HP:0009815	Aplasia/hypoplasia of the extremities	6595	SMARCA2	OMIM:601358
HP:0009815	Aplasia/hypoplasia of the extremities	83452	RAB33B	OMIM:615222
HP:0009815	Aplasia/hypoplasia of the extremities	6736	SRY	ORPHA:1772
HP:0009815	Aplasia/hypoplasia of the extremities	7227	TRPS1	OMIM:190350
HP:0009815	Aplasia/hypoplasia of the extremities	7227	TRPS1	OMIM:190351
HP:0009815	Aplasia/hypoplasia of the extremities	7227	TRPS1	ORPHA:77258
HP:0009815	Aplasia/hypoplasia of the extremities	79971	WLS	OMIM:619648
HP:0009815	Aplasia/hypoplasia of the extremities	3516	RBPJ	OMIM:614814
HP:0009815	Aplasia/hypoplasia of the extremities	3516	RBPJ	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	4851	NOTCH1	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	57514	ARHGAP31	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	57572	DOCK6	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	137814	NKX2-6	ORPHA:3384
HP:0009815	Aplasia/hypoplasia of the extremities	6597	SMARCA4	OMIM:614609
HP:0009815	Aplasia/hypoplasia of the extremities	3782	KCNN3	OMIM:618658
HP:0009815	Aplasia/hypoplasia of the extremities	285203	EOGT	OMIM:615297
HP:0009815	Aplasia/hypoplasia of the extremities	658	BMPR1B	ORPHA:2098
HP:0009815	Aplasia/hypoplasia of the extremities	57492	ARID1B	OMIM:135900
HP:0009815	Aplasia/hypoplasia of the extremities	3265	HRAS	ORPHA:2874
HP:0009815	Aplasia/hypoplasia of the extremities	6399	TRAPPC2	ORPHA:93284
HP:0009815	Aplasia/hypoplasia of the extremities	6399	TRAPPC2	OMIM:313400
HP:0009815	Aplasia/hypoplasia of the extremities	91147	TMEM67	OMIM:602152
HP:0009815	Aplasia/hypoplasia of the extremities	8720	MBTPS1	OMIM:618392
HP:0009815	Aplasia/hypoplasia of the extremities	8838	CCN6	ORPHA:1159
HP:0009815	Aplasia/hypoplasia of the extremities	10216	PRG4	ORPHA:2848
HP:0009815	Aplasia/hypoplasia of the extremities	84068	SLC10A7	OMIM:618363
HP:0009815	Aplasia/hypoplasia of the extremities	5286	PIK3C2A	OMIM:618440
HP:0009815	Aplasia/hypoplasia of the extremities	1108	CHD4	OMIM:617159
HP:0009815	Aplasia/hypoplasia of the extremities	80169	CTC1	OMIM:612199
HP:0009815	Aplasia/hypoplasia of the extremities	1947	EFNB1	OMIM:304110
HP:0009815	Aplasia/hypoplasia of the extremities	26128	KIFBP	OMIM:609460
HP:0009815	Aplasia/hypoplasia of the extremities	9698	PUM1	OMIM:617931
HP:0009815	Aplasia/hypoplasia of the extremities	781	CACNA2D1	OMIM:620149
HP:0009815	Aplasia/hypoplasia of the extremities	123263	MTFMT	OMIM:614947
HP:0009815	Aplasia/hypoplasia of the extremities	79868	ALG13	OMIM:300884
HP:0009815	Aplasia/hypoplasia of the extremities	3248	HPGD	ORPHA:2796
HP:0009815	Aplasia/hypoplasia of the extremities	6578	SLCO2A1	ORPHA:2796
HP:0009815	Aplasia/hypoplasia of the extremities	7703	PCGF2	OMIM:618371
HP:0009815	Aplasia/hypoplasia of the extremities	1501	CTNND2	ORPHA:281
HP:0009815	Aplasia/hypoplasia of the extremities	9037	SEMA5A	ORPHA:281
HP:0009815	Aplasia/hypoplasia of the extremities	8558	CDK10	OMIM:617694
HP:0009815	Aplasia/hypoplasia of the extremities	285175	UNC80	ORPHA:371364
HP:0009815	Aplasia/hypoplasia of the extremities	7486	WRN	ORPHA:902
HP:0009815	Aplasia/hypoplasia of the extremities	4849	CNOT3	OMIM:618672
HP:0009815	Aplasia/hypoplasia of the extremities	388662	SLC6A17	OMIM:616269
HP:0009815	Aplasia/hypoplasia of the extremities	23219	FBXO28	OMIM:619777
HP:0009815	Aplasia/hypoplasia of the extremities	5557	PRIM1	OMIM:620005
HP:0009815	Aplasia/hypoplasia of the extremities	406932	MIR140	OMIM:618618
HP:0009815	Aplasia/hypoplasia of the extremities	1801	DPH1	ORPHA:459061
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11	OMIM:200600
HP:0032350	Sulfocysteinuria	6821	SUOX	OMIM:272300
HP:0032352	Methioninuria	875	CBS	OMIM:236200
HP:0032359	Decreased forced expiratory flow 25-75%	2212	FCGR2A	OMIM:219700
HP:0032359	Decreased forced expiratory flow 25-75%	7040	TGFB1	OMIM:219700
HP:0032359	Decreased forced expiratory flow 25-75%	1080	CFTR	OMIM:219700
HP:0032359	Decreased forced expiratory flow 25-75%	26092	TOR1AIP1	OMIM:617072
HP:0032362	Increased circulating corticosterone level	1585	CYP11B2	OMIM:610600
HP:0032362	Increased circulating corticosterone level	1586	CYP17A1	ORPHA:90793
HP:0032362	Increased circulating corticosterone level	5447	POR	ORPHA:95699
HP:0500184	Abnormal CSF amino acid concentration	435	ASL	OMIM:207900
HP:0500184	Abnormal CSF amino acid concentration	1738	DLD	OMIM:246900
HP:0500184	Abnormal CSF amino acid concentration	2752	GLUL	OMIM:610015
HP:0500184	Abnormal CSF amino acid concentration	10157	AASS	ORPHA:2203
HP:0500184	Abnormal CSF amino acid concentration	133686	NADK2	OMIM:616034
HP:0500184	Abnormal CSF amino acid concentration	132	ADK	OMIM:614300
HP:0500184	Abnormal CSF amino acid concentration	2643	GCH1	OMIM:233910
HP:0500184	Abnormal CSF amino acid concentration	29968	PSAT1	OMIM:610992
HP:0500184	Abnormal CSF amino acid concentration	388962	BOLA3	OMIM:614299
HP:0500184	Abnormal CSF amino acid concentration	27247	NFU1	OMIM:605711
HP:0500184	Abnormal CSF amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0500184	Abnormal CSF amino acid concentration	200205	IBA57	OMIM:615330
HP:0500184	Abnormal CSF amino acid concentration	9361	LONP1	ORPHA:79243
HP:0500184	Abnormal CSF amino acid concentration	5160	PDHA1	ORPHA:79243
HP:0500184	Abnormal CSF amino acid concentration	1737	DLAT	ORPHA:79244
HP:0500184	Abnormal CSF amino acid concentration	8050	PDHX	ORPHA:255182
HP:0500184	Abnormal CSF amino acid concentration	100303755	PET117	OMIM:619063
HP:0500184	Abnormal CSF amino acid concentration	4697	NDUFA4	OMIM:619065
HP:0032366	Positive direct antiglobulin test	6005	RHAG	ORPHA:71275
HP:0032366	Positive direct antiglobulin test	6006	RHCE	ORPHA:71275
HP:0032366	Positive direct antiglobulin test	6007	RHD	ORPHA:71275
HP:0032367	Abnormal growth hormone level	5573	PRKAR1A	OMIM:160980
HP:0032367	Abnormal growth hormone level	5573	PRKAR1A	ORPHA:1359
HP:0032367	Abnormal growth hormone level	5373	PMM2	ORPHA:79318
HP:0032367	Abnormal growth hormone level	4221	MEN1	ORPHA:652
HP:0032367	Abnormal growth hormone level	4221	MEN1	OMIM:131100
HP:0032367	Abnormal growth hormone level	4221	MEN1	ORPHA:2965
HP:0032367	Abnormal growth hormone level	4221	MEN1	ORPHA:99725
HP:0032367	Abnormal growth hormone level	1027	CDKN1B	ORPHA:652
HP:0032367	Abnormal growth hormone level	1027	CDKN1B	OMIM:610755
HP:0032367	Abnormal growth hormone level	1027	CDKN1B	ORPHA:276152
HP:0032367	Abnormal growth hormone level	1026	CDKN1A	ORPHA:652
HP:0032367	Abnormal growth hormone level	1030	CDKN2B	ORPHA:652
HP:0032367	Abnormal growth hormone level	1031	CDKN2C	ORPHA:652
HP:0032367	Abnormal growth hormone level	2778	GNAS	OMIM:174800
HP:0032367	Abnormal growth hormone level	2778	GNAS	ORPHA:562
HP:0032367	Abnormal growth hormone level	83550	GPR101	ORPHA:963
HP:0032367	Abnormal growth hormone level	83550	GPR101	OMIM:300943
HP:0032367	Abnormal growth hormone level	83550	GPR101	OMIM:300942
HP:0032367	Abnormal growth hormone level	9049	AIP	ORPHA:963
HP:0032367	Abnormal growth hormone level	9049	AIP	OMIM:102200
HP:0032367	Abnormal growth hormone level	9049	AIP	ORPHA:2965
HP:0032367	Abnormal growth hormone level	9049	AIP	ORPHA:99725
HP:0032367	Abnormal growth hormone level	3248	HPGD	ORPHA:2796
HP:0032367	Abnormal growth hormone level	6578	SLCO2A1	ORPHA:2796
HP:0032367	Abnormal growth hormone level	3767	KCNJ11	ORPHA:79644
HP:0032367	Abnormal growth hormone level	3479	IGF1	OMIM:608747
HP:0032367	Abnormal growth hormone level	64072	CDH23	ORPHA:91347
HP:0032367	Abnormal growth hormone level	64072	CDH23	ORPHA:2965
HP:0032367	Abnormal growth hormone level	50940	PDE11A	ORPHA:1359
HP:0032367	Abnormal growth hormone level	2688	GH1	OMIM:612781
HP:0032367	Abnormal growth hormone level	2688	GH1	OMIM:262400
HP:0032367	Abnormal growth hormone level	5015	OTX2	OMIM:613986
HP:0032367	Abnormal growth hormone level	5449	POU1F1	OMIM:613038
HP:0032367	Abnormal growth hormone level	1828	DSG1	OMIM:615508
HP:0032367	Abnormal growth hormone level	5626	PROP1	OMIM:262600
HP:0032367	Abnormal growth hormone level	92935	MARS2	OMIM:616430
HP:0032367	Abnormal growth hormone level	91147	TMEM67	OMIM:602152
HP:0032368	Acidemia	4552	MTRR	OMIM:236270
HP:0032368	Acidemia	8802	SUCLG1	ORPHA:17
HP:0032368	Acidemia	8803	SUCLA2	OMIM:612073
HP:0032368	Acidemia	55788	LMBRD1	OMIM:277380
HP:0032368	Acidemia	25974	MMACHC	ORPHA:79282
HP:0032368	Acidemia	25974	MMACHC	OMIM:277400
HP:0032368	Acidemia	3054	HCFC1	OMIM:309541
HP:0032368	Acidemia	4329	ALDH6A1	OMIM:614105
HP:0032368	Acidemia	51293	CD320	OMIM:613646
HP:0032368	Acidemia	5826	ABCD4	OMIM:614857
HP:0032368	Acidemia	4548	MTR	OMIM:250940
HP:0032368	Acidemia	27249	MMADHC	OMIM:277410
HP:0032368	Acidemia	326625	MMAB	OMIM:251110
HP:0032368	Acidemia	4594	MMUT	OMIM:251000
HP:0032368	Acidemia	5052	PRDX1	OMIM:277400
HP:0032368	Acidemia	166785	MMAA	OMIM:251100
HP:0032368	Acidemia	79783	SUGCT	ORPHA:35706
HP:0032368	Acidemia	131118	DNAJC19	ORPHA:66634
HP:0032368	Acidemia	2108	ETFA	OMIM:231680
HP:0032368	Acidemia	2109	ETFB	OMIM:231680
HP:0032368	Acidemia	2110	ETFDH	OMIM:231680
HP:0032368	Acidemia	2639	GCDH	OMIM:231670
HP:0032368	Acidemia	5053	PAH	OMIM:261600
HP:0032368	Acidemia	197322	ACSF3	ORPHA:289504
HP:0032368	Acidemia	3418	IDH2	OMIM:613657
HP:0032368	Acidemia	79944	L2HGDH	OMIM:236792
HP:0032376	Anti-beta 2 glycoprotein I antibody positivity	51371	POMP	OMIM:618048
HP:0032382	Uniparental disomy	6716	SRD5A2	OMIM:264600
HP:0032385	Abnormal circulating transferrin concentration	7018	TF	OMIM:209300
HP:0032385	Abnormal circulating transferrin concentration	2495	FTH1	OMIM:615517
HP:0032385	Abnormal circulating transferrin concentration	213	ALB	OMIM:616000
HP:0032386	Elevated circulating transferrin concentration	213	ALB	OMIM:616000
HP:0032388	Periventricular nodular heterotopia	2316	FLNA	ORPHA:555877
HP:0032388	Periventricular nodular heterotopia	57020	VPS35L	OMIM:619135
HP:0032388	Periventricular nodular heterotopia	65250	CPLANE1	OMIM:277170
HP:0032388	Periventricular nodular heterotopia	375	ARF1	OMIM:618185
HP:0032388	Periventricular nodular heterotopia	23327	NEDD4L	OMIM:617201
HP:0032388	Periventricular nodular heterotopia	23036	ZNF292	OMIM:619188
HP:0032388	Periventricular nodular heterotopia	55656	INTS8	OMIM:618572
HP:0032388	Periventricular nodular heterotopia	55780	ERMARD	OMIM:615544
HP:0032388	Periventricular nodular heterotopia	57178	ZMIZ1	OMIM:618659
HP:0032388	Periventricular nodular heterotopia	9692	PRORP	OMIM:619737
HP:0032388	Periventricular nodular heterotopia	10564	ARFGEF2	OMIM:608097
HP:0032388	Periventricular nodular heterotopia	79633	FAT4	OMIM:615546
HP:0032388	Periventricular nodular heterotopia	10815	CPLX1	ORPHA:352582
HP:0032388	Periventricular nodular heterotopia	57465	TBC1D24	ORPHA:352582
HP:0032388	Periventricular nodular heterotopia	8642	DCHS1	OMIM:601390
HP:0032388	Periventricular nodular heterotopia	22859	ADGRL1	OMIM:620065
HP:0032388	Periventricular nodular heterotopia	57688	ZSWIM6	OMIM:603671
HP:0032388	Periventricular nodular heterotopia	4131	MAP1B	OMIM:618918
HP:0032389	Periventricular laminar heterotopia	7846	TUBA1A	OMIM:611603
HP:0032390	Periventricular ribbonlike heterotopia	10297	APC2	OMIM:618677
HP:0032391	Subcortical heterotopia	729920	CRPPA	OMIM:614643
HP:0032391	Subcortical heterotopia	1284	COL4A2	OMIM:614483
HP:0032391	Subcortical heterotopia	7283	TUBG1	OMIM:615412
HP:0032391	Subcortical heterotopia	10844	TUBGCP2	OMIM:618737
HP:0032391	Subcortical heterotopia	3796	KIF2A	OMIM:615411
HP:0032391	Subcortical heterotopia	3912	LAMB1	OMIM:615191
HP:0032391	Subcortical heterotopia	79633	FAT4	OMIM:615546
HP:0032391	Subcortical heterotopia	8642	DCHS1	OMIM:601390
HP:0032391	Subcortical heterotopia	5048	PAFAH1B1	OMIM:607432
HP:0032391	Subcortical heterotopia	2009	EML1	OMIM:600348
HP:0032391	Subcortical heterotopia	203068	TUBB	OMIM:615771
HP:0032391	Subcortical heterotopia	387119	CEP85L	OMIM:618873
HP:0032397	Citrullinuria	10157	AASS	ORPHA:3124
HP:0032398	Dysgyria	347733	TUBB2B	ORPHA:467166
HP:0032398	Dysgyria	7846	TUBA1A	ORPHA:467166
HP:0032398	Dysgyria	10381	TUBB3	ORPHA:467166
HP:0032398	Dysgyria	3912	LAMB1	ORPHA:352682
HP:0032398	Dysgyria	5048	PAFAH1B1	ORPHA:95232
HP:0045005	Neural tube defect	51684	SUFU	ORPHA:475
HP:0045005	Neural tube defect	54806	AHI1	ORPHA:475
HP:0045005	Neural tube defect	54806	AHI1	ORPHA:220493
HP:0045005	Neural tube defect	153241	CEP120	ORPHA:475
HP:0045005	Neural tube defect	153241	CEP120	ORPHA:220493
HP:0045005	Neural tube defect	153241	CEP120	OMIM:616300
HP:0045005	Neural tube defect	65250	CPLANE1	ORPHA:475
HP:0045005	Neural tube defect	9731	CEP104	ORPHA:475
HP:0045005	Neural tube defect	23247	KATNIP	ORPHA:475
HP:0045005	Neural tube defect	95681	CEP41	ORPHA:475
HP:0045005	Neural tube defect	95681	CEP41	ORPHA:220493
HP:0045005	Neural tube defect	10464	PIBF1	ORPHA:475
HP:0045005	Neural tube defect	80210	ARMC9	ORPHA:475
HP:0045005	Neural tube defect	23116	TOGARAM1	ORPHA:475
HP:0045005	Neural tube defect	25776	CBY1	ORPHA:475
HP:0045005	Neural tube defect	403	ARL3	ORPHA:475
HP:0045005	Neural tube defect	3769	KCNJ13	ORPHA:65
HP:0045005	Neural tube defect	343035	RD3	ORPHA:65
HP:0045005	Neural tube defect	145226	RDH12	ORPHA:65
HP:0045005	Neural tube defect	1406	CRX	ORPHA:65
HP:0045005	Neural tube defect	64802	NMNAT1	ORPHA:65
HP:0045005	Neural tube defect	10383	TUBB4B	ORPHA:65
HP:0045005	Neural tube defect	9742	IFT140	ORPHA:65
HP:0045005	Neural tube defect	85015	USP45	ORPHA:65
HP:0045005	Neural tube defect	6121	RPE65	ORPHA:65
HP:0045005	Neural tube defect	23418	CRB1	ORPHA:65
HP:0045005	Neural tube defect	5130	PCYT1A	ORPHA:65
HP:0045005	Neural tube defect	9657	IQCB1	ORPHA:65
HP:0045005	Neural tube defect	392255	GDF6	ORPHA:65
HP:0045005	Neural tube defect	23746	AIPL1	ORPHA:65
HP:0045005	Neural tube defect	3000	GUCY2D	ORPHA:65
HP:0045005	Neural tube defect	9227	LRAT	ORPHA:65
HP:0045005	Neural tube defect	55812	SPATA7	ORPHA:65
HP:0045005	Neural tube defect	7287	TULP1	ORPHA:65
HP:0045005	Neural tube defect	167691	LCA5	ORPHA:65
HP:0045005	Neural tube defect	3614	IMPDH1	ORPHA:65
HP:0045005	Neural tube defect	341640	FREM2	ORPHA:2052
HP:0045005	Neural tube defect	80144	FRAS1	ORPHA:2052
HP:0045005	Neural tube defect	80144	FRAS1	OMIM:219000
HP:0045005	Neural tube defect	23426	GRIP1	ORPHA:2052
HP:0045005	Neural tube defect	51524	TMEM138	OMIM:614465
HP:0045005	Neural tube defect	51524	TMEM138	ORPHA:2318
HP:0045005	Neural tube defect	57514	ARHGAP31	OMIM:100300
HP:0045005	Neural tube defect	57514	ARHGAP31	ORPHA:974
HP:0045005	Neural tube defect	2261	FGFR3	ORPHA:93274
HP:0045005	Neural tube defect	84172	POLR1B	ORPHA:861
HP:0045005	Neural tube defect	9533	POLR1C	ORPHA:861
HP:0045005	Neural tube defect	51082	POLR1D	ORPHA:861
HP:0045005	Neural tube defect	6949	TCOF1	ORPHA:861
HP:0045005	Neural tube defect	4867	NPHP1	ORPHA:220497
HP:0045005	Neural tube defect	3516	RBPJ	ORPHA:974
HP:0045005	Neural tube defect	4851	NOTCH1	ORPHA:974
HP:0045005	Neural tube defect	57572	DOCK6	ORPHA:974
HP:0045005	Neural tube defect	285203	EOGT	ORPHA:974
HP:0045005	Neural tube defect	57688	ZSWIM6	OMIM:603671
HP:0045005	Neural tube defect	57688	ZSWIM6	ORPHA:1827
HP:0045005	Neural tube defect	729920	CRPPA	OMIM:614643
HP:0045005	Neural tube defect	23090	ZNF423	ORPHA:2318
HP:0045005	Neural tube defect	2260	FGFR1	ORPHA:2117
HP:0045005	Neural tube defect	3912	LAMB1	OMIM:615191
HP:0045005	Neural tube defect	3912	LAMB1	ORPHA:352682
HP:0045005	Neural tube defect	4488	MSX2	ORPHA:60015
HP:0045005	Neural tube defect	60529	ALX4	ORPHA:60015
HP:0045005	Neural tube defect	3339	HSPG2	OMIM:224410
HP:0045005	Neural tube defect	160418	TMTC3	OMIM:617255
HP:0045005	Neural tube defect	6608	SMO	OMIM:241800
HP:0045005	Neural tube defect	10992	SF3B2	OMIM:164210
HP:0045005	Neural tube defect	29925	GMPPB	ORPHA:370959
HP:0045005	Neural tube defect	79147	FKRP	ORPHA:370959
HP:0045005	Neural tube defect	79147	FKRP	OMIM:236670
HP:0045005	Neural tube defect	29954	POMT2	ORPHA:370959
HP:0045005	Neural tube defect	29954	POMT2	OMIM:236670
HP:0045005	Neural tube defect	84197	POMK	ORPHA:370959
HP:0045005	Neural tube defect	55624	POMGNT1	ORPHA:370959
HP:0045005	Neural tube defect	10585	POMT1	ORPHA:370959
HP:0045005	Neural tube defect	10585	POMT1	OMIM:236670
HP:0045005	Neural tube defect	200894	ARL13B	OMIM:612291
HP:0045005	Neural tube defect	219854	TMEM218	OMIM:619562
HP:0045005	Neural tube defect	56623	INPP5E	ORPHA:1454
HP:0045005	Neural tube defect	56603	CYP26B1	OMIM:614416
HP:0045005	Neural tube defect	5062	PAK2	ORPHA:1571
HP:0045005	Neural tube defect	26005	C2CD3	OMIM:615948
HP:0045005	Neural tube defect	9215	LARGE1	OMIM:236670
HP:0045005	Neural tube defect	2218	FKTN	OMIM:236670
HP:0045005	Neural tube defect	9896	FIG4	OMIM:216340
HP:0045005	Neural tube defect	9896	FIG4	ORPHA:3472
HP:0045005	Neural tube defect	2737	GLI3	ORPHA:672
HP:0045005	Neural tube defect	55697	VAC14	ORPHA:3472
HP:0045005	Neural tube defect	9928	KIF14	OMIM:616258
HP:0045005	Neural tube defect	9928	KIF14	OMIM:617914
HP:0045005	Neural tube defect	55636	CHD7	OMIM:214800
HP:0045005	Neural tube defect	10535	RNASEH2A	ORPHA:51
HP:0045005	Neural tube defect	84153	RNASEH2C	ORPHA:51
HP:0045005	Neural tube defect	25939	SAMHD1	ORPHA:51
HP:0045005	Neural tube defect	79621	RNASEH2B	ORPHA:51
HP:0045005	Neural tube defect	103	ADAR	ORPHA:51
HP:0045005	Neural tube defect	11277	TREX1	ORPHA:51
HP:0045005	Neural tube defect	100147744	RNU7-1	ORPHA:51
HP:0045005	Neural tube defect	134353	LSM11	ORPHA:51
HP:0045005	Neural tube defect	64135	IFIH1	ORPHA:51
HP:0045005	Neural tube defect	10262	SF3B4	ORPHA:1788
HP:0045005	Neural tube defect	64093	SMOC1	ORPHA:1106
HP:0045005	Neural tube defect	215	ABCD1	ORPHA:139396
HP:0045005	Neural tube defect	1593	CYP27A1	ORPHA:909
HP:0045005	Neural tube defect	22943	DKK1	ORPHA:268882
HP:0045005	Neural tube defect	5921	RASA1	ORPHA:90307
HP:0045005	Neural tube defect	686	BTD	ORPHA:79241
HP:0045005	Neural tube defect	4771	NF2	ORPHA:637
HP:0045005	Neural tube defect	79158	GNPTAB	OMIM:252500
HP:0045005	Neural tube defect	2720	GLB1	OMIM:253010
HP:0045005	Neural tube defect	2131	EXT1	ORPHA:321
HP:0045005	Neural tube defect	2131	EXT1	OMIM:133700
HP:0045005	Neural tube defect	2132	EXT2	ORPHA:321
HP:0045005	Neural tube defect	2132	EXT2	OMIM:133701
HP:0045005	Neural tube defect	2588	GALNS	OMIM:253000
HP:0045005	Neural tube defect	1280	COL2A1	OMIM:183900
HP:0045005	Neural tube defect	128240	NAXE	OMIM:617186
HP:0045005	Neural tube defect	411	ARSB	OMIM:253200
HP:0045005	Neural tube defect	81788	NUAK2	OMIM:619452
HP:0045005	Neural tube defect	374654	KIF7	OMIM:614120
HP:0045005	Neural tube defect	374654	KIF7	ORPHA:2189
HP:0045005	Neural tube defect	57545	CC2D2A	OMIM:612284
HP:0045005	Neural tube defect	57545	CC2D2A	ORPHA:564
HP:0045005	Neural tube defect	9786	KIAA0586	OMIM:616546
HP:0045005	Neural tube defect	80184	CEP290	OMIM:611134
HP:0045005	Neural tube defect	80184	CEP290	ORPHA:564
HP:0045005	Neural tube defect	57216	VANGL2	OMIM:182940
HP:0045005	Neural tube defect	6347	CCL2	OMIM:182940
HP:0045005	Neural tube defect	81839	VANGL1	OMIM:182940
HP:0045005	Neural tube defect	6862	TBXT	OMIM:182940
HP:0045005	Neural tube defect	80199	FUZ	OMIM:182940
HP:0045005	Neural tube defect	219844	HYLS1	OMIM:236680
HP:0045005	Neural tube defect	219844	HYLS1	ORPHA:2189
HP:0045005	Neural tube defect	3239	HOXD13	ORPHA:887
HP:0045005	Neural tube defect	84314	TMEM107	ORPHA:564
HP:0045005	Neural tube defect	26123	TCTN3	ORPHA:564
HP:0045005	Neural tube defect	79867	TCTN2	ORPHA:564
HP:0045005	Neural tube defect	80776	B9D2	ORPHA:564
HP:0045005	Neural tube defect	80776	B9D2	OMIM:614175
HP:0045005	Neural tube defect	79600	TCTN1	ORPHA:564
HP:0045005	Neural tube defect	57096	RPGRIP1	ORPHA:564
HP:0045005	Neural tube defect	79848	CSPP1	ORPHA:564
HP:0045005	Neural tube defect	51259	TMEM216	ORPHA:564
HP:0045005	Neural tube defect	51259	TMEM216	OMIM:603194
HP:0045005	Neural tube defect	79583	TMEM231	ORPHA:564
HP:0045005	Neural tube defect	91147	TMEM67	ORPHA:564
HP:0045005	Neural tube defect	79770	TXNDC15	ORPHA:564
HP:0045005	Neural tube defect	27077	B9D1	ORPHA:564
HP:0045005	Neural tube defect	23322	RPGRIP1L	ORPHA:564
HP:0045005	Neural tube defect	23322	RPGRIP1L	OMIM:611561
HP:0045005	Neural tube defect	54903	MKS1	ORPHA:564
HP:0045005	Neural tube defect	54903	MKS1	OMIM:249000
HP:0045005	Neural tube defect	65062	TMEM237	ORPHA:564
HP:0045005	Neural tube defect	11041	B4GAT1	OMIM:615287
HP:0045005	Neural tube defect	55521	TRIM36	OMIM:206500
HP:0045005	Neural tube defect	51339	DACT1	ORPHA:63260
HP:0045005	Neural tube defect	124997	WDR81	OMIM:617967
HP:0045005	Neural tube defect	27238	GPKOW	ORPHA:2570
HP:0045005	Neural tube defect	6913	TBX15	OMIM:260660
HP:0045005	Neural tube defect	54820	NDE1	OMIM:605013
HP:0045005	Neural tube defect	55165	CEP55	OMIM:236500
HP:0045005	Neural tube defect	55640	FLVCR2	OMIM:225790
HP:0045005	Neural tube defect	11198	SUPT16H	OMIM:619480
HP:0045005	Neural tube defect	4010	LMX1B	OMIM:161200
HP:0045005	Neural tube defect	284058	KANSL1	ORPHA:363965
HP:0045005	Neural tube defect	284058	KANSL1	ORPHA:363958
HP:0045005	Neural tube defect	6628	SNRPB	ORPHA:1393
HP:0045005	Neural tube defect	2187	FANCB	ORPHA:3412
HP:0045005	Neural tube defect	2187	FANCB	ORPHA:84
HP:0045005	Neural tube defect	5077	PAX3	ORPHA:894
HP:0045005	Neural tube defect	5077	PAX3	OMIM:193500
HP:0045005	Neural tube defect	4763	NF1	OMIM:162200
HP:0045005	Neural tube defect	672	BRCA1	ORPHA:84
HP:0045005	Neural tube defect	10459	MAD2L2	ORPHA:84
HP:0045005	Neural tube defect	7516	XRCC2	ORPHA:84
HP:0045005	Neural tube defect	29089	UBE2T	ORPHA:84
HP:0045005	Neural tube defect	675	BRCA2	ORPHA:84
HP:0045005	Neural tube defect	55120	FANCL	ORPHA:84
HP:0045005	Neural tube defect	2177	FANCD2	ORPHA:84
HP:0045005	Neural tube defect	2175	FANCA	ORPHA:84
HP:0045005	Neural tube defect	2176	FANCC	ORPHA:84
HP:0045005	Neural tube defect	2178	FANCE	ORPHA:84
HP:0045005	Neural tube defect	2188	FANCF	ORPHA:84
HP:0045005	Neural tube defect	2189	FANCG	ORPHA:84
HP:0045005	Neural tube defect	5888	RAD51	ORPHA:84
HP:0045005	Neural tube defect	5889	RAD51C	ORPHA:84
HP:0045005	Neural tube defect	55159	RFWD3	ORPHA:84
HP:0045005	Neural tube defect	83990	BRIP1	ORPHA:84
HP:0045005	Neural tube defect	57697	FANCM	ORPHA:84
HP:0045005	Neural tube defect	79728	PALB2	ORPHA:84
HP:0045005	Neural tube defect	84464	SLX4	ORPHA:84
HP:0045005	Neural tube defect	2072	ERCC4	ORPHA:84
HP:0045005	Neural tube defect	55215	FANCI	ORPHA:84
HP:0045005	Neural tube defect	9939	RBM8A	OMIM:274000
HP:0045005	Neural tube defect	1312	COMT	ORPHA:567
HP:0045005	Neural tube defect	221037	JMJD1C	ORPHA:567
HP:0045005	Neural tube defect	2812	GP1BB	ORPHA:567
HP:0045005	Neural tube defect	6239	RREB1	ORPHA:567
HP:0045005	Neural tube defect	6899	TBX1	ORPHA:567
HP:0045005	Neural tube defect	7290	HIRA	ORPHA:567
HP:0045005	Neural tube defect	9632	SEC24C	ORPHA:567
HP:0045005	Neural tube defect	7353	UFD1	ORPHA:567
HP:0045005	Neural tube defect	421	ARVCF	ORPHA:567
HP:0045005	Neural tube defect	3265	HRAS	ORPHA:2874
HP:0045005	Neural tube defect	9573	GDF3	ORPHA:2345
HP:0045005	Neural tube defect	4222	MEOX1	ORPHA:2345
HP:0045005	Neural tube defect	29968	PSAT1	OMIM:616038
HP:0045005	Neural tube defect	2313	FLI1	ORPHA:2308
HP:0045005	Neural tube defect	60386	SLC25A19	ORPHA:99742
HP:0045005	Neural tube defect	26227	PHGDH	OMIM:256520
HP:0045005	Neural tube defect	6309	SC5D	ORPHA:46059
HP:0045005	Neural tube defect	148789	B3GALNT2	ORPHA:588
HP:0045005	Neural tube defect	4854	NOTCH3	OMIM:130720
HP:0045005	Neural tube defect	4854	NOTCH3	ORPHA:2789
HP:0045005	Neural tube defect	2697	GJA1	ORPHA:1010
HP:0045005	Neural tube defect	7476	WNT7A	OMIM:276820
HP:0045005	Neural tube defect	7547	ZIC3	OMIM:306955
HP:0045005	Neural tube defect	168667	BMPER	ORPHA:66637
HP:0045005	Neural tube defect	10093	ARPC4	OMIM:620141
HP:0045005	Neural tube defect	25942	SIN3A	ORPHA:94065
HP:0045005	Neural tube defect	8481	OFD1	OMIM:311200
HP:0045005	Neural tube defect	3481	IGF2	ORPHA:2128
HP:0045005	Neural tube defect	10984	KCNQ1OT1	ORPHA:2128
HP:0045005	Neural tube defect	283120	H19	ORPHA:2128
HP:0045005	Neural tube defect	57167	SALL4	ORPHA:233
HP:0045005	Neural tube defect	57167	SALL4	OMIM:607323
HP:0045005	Neural tube defect	9935	MAFB	ORPHA:233
HP:0045005	Neural tube defect	1123	CHN1	ORPHA:233
HP:0045005	Neural tube defect	6095	RORA	OMIM:618060
HP:0045005	Neural tube defect	3981	LIG4	ORPHA:235
HP:0045005	Neural tube defect	54888	NSUN2	ORPHA:235
HP:0045005	Neural tube defect	64840	PORCN	OMIM:305600
HP:0045005	Neural tube defect	9791	PTDSS1	OMIM:151050
HP:0045005	Neural tube defect	9158	FIBP	ORPHA:500095
HP:0045005	Neural tube defect	1387	CREBBP	OMIM:180849
HP:0045005	Neural tube defect	2033	EP300	OMIM:180849
HP:0045005	Neural tube defect	7148	TNXB	ORPHA:230839
HP:0045005	Neural tube defect	92002	CCNQ	OMIM:300707
HP:0045005	Neural tube defect	5648	MASP1	OMIM:257920
HP:0045005	Neural tube defect	5648	MASP1	ORPHA:293843
HP:0045005	Neural tube defect	91754	NEK9	ORPHA:64754
HP:0045005	Neural tube defect	60	ACTB	ORPHA:64755
HP:0045005	Neural tube defect	6804	STX1A	ORPHA:904
HP:0045005	Neural tube defect	7461	CLIP2	ORPHA:904
HP:0045005	Neural tube defect	84277	DNAJC30	ORPHA:904
HP:0045005	Neural tube defect	8468	FKBP6	ORPHA:904
HP:0045005	Neural tube defect	5982	RFC2	ORPHA:904
HP:0045005	Neural tube defect	2969	GTF2I	ORPHA:904
HP:0045005	Neural tube defect	3984	LIMK1	ORPHA:904
HP:0045005	Neural tube defect	9569	GTF2IRD1	ORPHA:904
HP:0045005	Neural tube defect	155382	VPS37D	ORPHA:904
HP:0045005	Neural tube defect	155368	METTL27	ORPHA:904
HP:0045005	Neural tube defect	114049	BUD23	ORPHA:904
HP:0045005	Neural tube defect	7458	EIF4H	ORPHA:904
HP:0045005	Neural tube defect	84163	GTF2IRD2	ORPHA:904
HP:0045005	Neural tube defect	9275	BCL7B	ORPHA:904
HP:0045005	Neural tube defect	26608	TBL2	ORPHA:904
HP:0045005	Neural tube defect	653361	NCF1	ORPHA:904
HP:0045005	Neural tube defect	135886	TMEM270	ORPHA:904
HP:0045005	Neural tube defect	51085	MLXIPL	ORPHA:904
HP:0045005	Neural tube defect	9031	BAZ1B	ORPHA:904
HP:0045005	Neural tube defect	2006	ELN	ORPHA:904
HP:0045005	Neural tube defect	145173	B3GLCT	ORPHA:709
HP:0045005	Neural tube defect	7545	ZIC1	OMIM:616602
HP:0045005	Neural tube defect	7545	ZIC1	OMIM:618736
HP:0045005	Neural tube defect	5781	PTPN11	ORPHA:500
HP:0045005	Neural tube defect	5781	PTPN11	OMIM:151100
HP:0045005	Neural tube defect	673	BRAF	ORPHA:500
HP:0045005	Neural tube defect	5894	RAF1	ORPHA:500
HP:0045005	Neural tube defect	526	ATP6V1B2	ORPHA:79500
HP:0045005	Neural tube defect	57465	TBC1D24	ORPHA:79500
HP:0045005	Neural tube defect	80781	COL18A1	OMIM:267750
HP:0045005	Neural tube defect	8517	IKBKG	ORPHA:464
HP:0045005	Neural tube defect	1615	DARS1	OMIM:615281
HP:0045005	Neural tube defect	51715	RAB23	OMIM:201000
HP:0045005	Neural tube defect	3664	IRF6	OMIM:119500
HP:0045005	Neural tube defect	6911	TBX6	ORPHA:1797
HP:0045005	Neural tube defect	100996717	NOTCH2NLC	ORPHA:2289
HP:0045005	Neural tube defect	139285	AMER1	OMIM:300373
HP:0045005	Neural tube defect	139285	AMER1	ORPHA:2780
HP:0045005	Neural tube defect	4621	MYH3	OMIM:193700
HP:0045005	Neural tube defect	4621	MYH3	ORPHA:2990
HP:0045005	Neural tube defect	57492	ARID1B	OMIM:135900
HP:0045005	Neural tube defect	3756	KCNH1	OMIM:135500
HP:0045005	Neural tube defect	650	BMP2	OMIM:617877
HP:0045005	Neural tube defect	134701	RIPPLY2	ORPHA:2311
HP:0045005	Neural tube defect	10683	DLL3	ORPHA:2311
HP:0045005	Neural tube defect	3955	LFNG	ORPHA:2311
HP:0045005	Neural tube defect	84667	HES7	ORPHA:2311
HP:0045005	Neural tube defect	84667	HES7	OMIM:613686
HP:0045005	Neural tube defect	145873	MESP2	ORPHA:2311
HP:0045005	Neural tube defect	10584	COLEC10	ORPHA:293843
HP:0045005	Neural tube defect	78989	COLEC11	ORPHA:293843
HP:0045005	Neural tube defect	9820	CUL7	OMIM:273750
HP:0045005	Neural tube defect	2316	FLNA	ORPHA:1826
HP:0045005	Neural tube defect	6885	MAP3K7	ORPHA:1826
HP:0045005	Neural tube defect	1146	CHRNG	ORPHA:2990
HP:0045005	Neural tube defect	3166	HMX1	OMIM:612109
HP:0045005	Neural tube defect	147372	CCBE1	OMIM:235510
HP:0045005	Neural tube defect	6223	RPS19	OMIM:105650
HP:0045005	Neural tube defect	23299	BICD2	OMIM:618291
HP:0045005	Neural tube defect	22827	PUF60	ORPHA:508488
HP:0045005	Neural tube defect	9401	RECQL4	OMIM:218600
HP:0045005	Neural tube defect	5422	POLA1	OMIM:301030
HP:0045005	Neural tube defect	2317	FLNB	OMIM:150250
HP:0045005	Neural tube defect	8621	CDK13	OMIM:617360
HP:0045005	Neural tube defect	860	RUNX2	ORPHA:1452
HP:0045005	Neural tube defect	51729	WBP11	OMIM:619227
HP:0045005	Neural tube defect	257	ALX3	OMIM:136760
HP:0045005	Neural tube defect	257	ALX3	ORPHA:391474
HP:0045005	Neural tube defect	8092	ALX1	ORPHA:306542
HP:0045005	Neural tube defect	157570	ESCO2	OMIM:268300
HP:0045005	Neural tube defect	5290	PIK3CA	OMIM:612918
HP:0045005	Neural tube defect	4548	MTR	OMIM:601634
HP:0045005	Neural tube defect	4552	MTRR	OMIM:601634
HP:0045005	Neural tube defect	4524	MTHFR	OMIM:601634
HP:0045005	Neural tube defect	4522	MTHFD1	OMIM:601634
HP:0045005	Neural tube defect	3835	KIF22	OMIM:603546
HP:0045005	Neural tube defect	6023	RMRP	ORPHA:175
HP:0045005	Neural tube defect	23498	HAAO	OMIM:617660
HP:0045005	Neural tube defect	9790	BMS1	ORPHA:1114
HP:0045005	Neural tube defect	5339	PLEC	ORPHA:1114
HP:0045005	Neural tube defect	10054	UBA2	ORPHA:1114
HP:0045005	Neural tube defect	3691	ITGB4	ORPHA:1114
HP:0045005	Neural tube defect	54567	DLL4	ORPHA:1114
HP:0045005	Neural tube defect	6662	SOX9	OMIM:114290
HP:0045005	Neural tube defect	388015	RTL1	ORPHA:96334
HP:0045005	Neural tube defect	8788	DLK1	ORPHA:96334
HP:0045005	Neural tube defect	55384	MEG3	ORPHA:96334
HP:0045005	Neural tube defect	30813	VSX1	OMIM:614195
HP:0045005	Neural tube defect	3190	HNRNPK	OMIM:616580
HP:0045005	Neural tube defect	28514	DLL1	ORPHA:220386
HP:0045005	Neural tube defect	28514	DLL1	ORPHA:93926
HP:0045005	Neural tube defect	28514	DLL1	ORPHA:93924
HP:0045005	Neural tube defect	28514	DLL1	ORPHA:93925
HP:0045005	Neural tube defect	10735	STAG2	ORPHA:220386
HP:0045005	Neural tube defect	10735	STAG2	ORPHA:93925
HP:0045005	Neural tube defect	2253	FGF8	ORPHA:220386
HP:0045005	Neural tube defect	2253	FGF8	ORPHA:93926
HP:0045005	Neural tube defect	2253	FGF8	ORPHA:93924
HP:0045005	Neural tube defect	2253	FGF8	ORPHA:93925
HP:0045005	Neural tube defect	8243	SMC1A	ORPHA:220386
HP:0045005	Neural tube defect	6496	SIX3	ORPHA:220386
HP:0045005	Neural tube defect	6496	SIX3	ORPHA:93926
HP:0045005	Neural tube defect	6496	SIX3	ORPHA:93924
HP:0045005	Neural tube defect	6496	SIX3	ORPHA:93925
HP:0045005	Neural tube defect	7050	TGIF1	ORPHA:220386
HP:0045005	Neural tube defect	7050	TGIF1	ORPHA:93926
HP:0045005	Neural tube defect	7050	TGIF1	ORPHA:93924
HP:0045005	Neural tube defect	7050	TGIF1	ORPHA:93925
HP:0045005	Neural tube defect	4838	NODAL	ORPHA:220386
HP:0045005	Neural tube defect	4838	NODAL	ORPHA:93926
HP:0045005	Neural tube defect	4838	NODAL	ORPHA:93924
HP:0045005	Neural tube defect	4838	NODAL	ORPHA:93925
HP:0045005	Neural tube defect	6469	SHH	ORPHA:220386
HP:0045005	Neural tube defect	6469	SHH	ORPHA:93926
HP:0045005	Neural tube defect	6469	SHH	ORPHA:93924
HP:0045005	Neural tube defect	6469	SHH	ORPHA:93925
HP:0045005	Neural tube defect	7546	ZIC2	ORPHA:220386
HP:0045005	Neural tube defect	7546	ZIC2	ORPHA:93926
HP:0045005	Neural tube defect	7546	ZIC2	ORPHA:93924
HP:0045005	Neural tube defect	7546	ZIC2	ORPHA:93925
HP:0045005	Neural tube defect	6491	STIL	ORPHA:220386
HP:0045005	Neural tube defect	6491	STIL	ORPHA:93926
HP:0045005	Neural tube defect	6491	STIL	ORPHA:93924
HP:0045005	Neural tube defect	6491	STIL	ORPHA:93925
HP:0045005	Neural tube defect	2619	GAS1	ORPHA:220386
HP:0045005	Neural tube defect	2619	GAS1	ORPHA:93926
HP:0045005	Neural tube defect	2619	GAS1	ORPHA:93924
HP:0045005	Neural tube defect	2619	GAS1	ORPHA:93925
HP:0045005	Neural tube defect	84976	DISP1	ORPHA:220386
HP:0045005	Neural tube defect	84976	DISP1	ORPHA:93926
HP:0045005	Neural tube defect	84976	DISP1	ORPHA:93924
HP:0045005	Neural tube defect	84976	DISP1	ORPHA:93925
HP:0045005	Neural tube defect	2736	GLI2	ORPHA:220386
HP:0045005	Neural tube defect	2736	GLI2	ORPHA:93926
HP:0045005	Neural tube defect	2736	GLI2	ORPHA:93924
HP:0045005	Neural tube defect	2736	GLI2	ORPHA:93925
HP:0045005	Neural tube defect	8928	FOXH1	ORPHA:220386
HP:0045005	Neural tube defect	8928	FOXH1	ORPHA:93926
HP:0045005	Neural tube defect	8928	FOXH1	ORPHA:93924
HP:0045005	Neural tube defect	8928	FOXH1	ORPHA:93925
HP:0045005	Neural tube defect	5727	PTCH1	ORPHA:220386
HP:0045005	Neural tube defect	5727	PTCH1	ORPHA:93926
HP:0045005	Neural tube defect	5727	PTCH1	ORPHA:93924
HP:0045005	Neural tube defect	5727	PTCH1	ORPHA:93925
HP:0045005	Neural tube defect	50937	CDON	ORPHA:220386
HP:0045005	Neural tube defect	50937	CDON	ORPHA:93926
HP:0045005	Neural tube defect	50937	CDON	ORPHA:93924
HP:0045005	Neural tube defect	50937	CDON	ORPHA:93925
HP:0045005	Neural tube defect	23007	PLCH1	ORPHA:93925
HP:0045005	Neural tube defect	999	CDH1	OMIM:119580
HP:0045005	Neural tube defect	10329	RXYLT1	OMIM:615041
HP:0045005	Neural tube defect	10195	ALG3	ORPHA:79321
HP:0045005	Neural tube defect	26040	SETBP1	ORPHA:798
HP:0045007	Abnormal substantia nigra morphology	120892	LRRK2	OMIM:607060
HP:0045007	Abnormal substantia nigra morphology	5071	PRKN	OMIM:600116
HP:0045007	Abnormal substantia nigra morphology	4287	ATXN3	ORPHA:276238
HP:0045007	Abnormal substantia nigra morphology	4287	ATXN3	ORPHA:276244
HP:0045007	Abnormal substantia nigra morphology	4287	ATXN3	ORPHA:276241
HP:0045007	Abnormal substantia nigra morphology	2747	GLUD2	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	126	ADH1C	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	4137	MAPT	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	2629	GBA1	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	6908	TBP	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	4576	MT-TT	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	9627	SNCAIP	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	6315	ATXN8OS	OMIM:168600
HP:0045007	Abnormal substantia nigra morphology	25793	FBXO7	ORPHA:171695
HP:0045007	Abnormal substantia nigra morphology	6622	SNCA	ORPHA:171695
HP:0045007	Abnormal substantia nigra morphology	2512	FTL	ORPHA:157846
HP:0045007	Abnormal substantia nigra morphology	11152	WDR45	ORPHA:329284
HP:0045007	Abnormal substantia nigra morphology	27072	VPS41	OMIM:619389
HP:0045007	Abnormal substantia nigra morphology	6905	TBCE	ORPHA:496756
HP:0045007	Abnormal substantia nigra morphology	23446	SLC44A1	OMIM:618868
HP:0045007	Abnormal substantia nigra morphology	54676	GTPBP2	OMIM:617988
HP:0045007	Abnormal substantia nigra morphology	2643	GCH1	ORPHA:98808
HP:0045007	Abnormal substantia nigra morphology	4929	NR4A2	ORPHA:98808
HP:0045007	Abnormal substantia nigra morphology	3615	IMPDH2	ORPHA:98808
HP:0045007	Abnormal substantia nigra morphology	80208	SPG11	ORPHA:2822
HP:0045007	Abnormal substantia nigra morphology	6311	ATXN2	ORPHA:98756
HP:0045008	Abnormal shape of the radius	2737	GLI3	ORPHA:672
HP:0045008	Abnormal shape of the radius	4920	ROR2	OMIM:268310
HP:0045008	Abnormal shape of the radius	4322	MMP13	OMIM:602111
HP:0045008	Abnormal shape of the radius	1301	COL11A1	OMIM:154780
HP:0045008	Abnormal shape of the radius	4882	NPR2	OMIM:602875
HP:0045008	Abnormal shape of the radius	1280	COL2A1	OMIM:151210
HP:0045008	Abnormal shape of the radius	7476	WNT7A	OMIM:228930
HP:0045008	Abnormal shape of the radius	7476	WNT7A	ORPHA:2879
HP:0045008	Abnormal shape of the radius	7476	WNT7A	OMIM:276820
HP:0045008	Abnormal shape of the radius	8074	FGF23	OMIM:617993
HP:0045008	Abnormal shape of the radius	8200	GDF5	OMIM:201250
HP:0045008	Abnormal shape of the radius	2261	FGFR3	OMIM:100800
HP:0045008	Abnormal shape of the radius	5593	PRKG2	OMIM:619636
HP:0045008	Abnormal shape of the radius	2317	FLNB	OMIM:108721
HP:0045008	Abnormal shape of the radius	2317	FLNB	OMIM:108720
HP:0045008	Abnormal shape of the radius	59341	TRPV4	ORPHA:93314
HP:0045008	Abnormal shape of the radius	6473	SHOX	OMIM:127300
HP:0045008	Abnormal shape of the radius	6473	SHOX	ORPHA:240
HP:0045008	Abnormal shape of the radius	6473	SHOX	OMIM:249700
HP:0045008	Abnormal shape of the radius	91147	TMEM67	OMIM:602152
HP:0045008	Abnormal shape of the radius	3549	IHH	OMIM:607778
HP:0045008	Abnormal shape of the radius	567	B2M	OMIM:241600
HP:0045008	Abnormal shape of the radius	112752	IFT43	OMIM:617866
HP:0045008	Abnormal shape of the radius	1836	SLC26A2	ORPHA:93307
HP:0045008	Abnormal shape of the radius	3930	LBR	OMIM:618019
HP:0045008	Abnormal shape of the radius	5116	PCNT	OMIM:210720
HP:0045008	Abnormal shape of the radius	2316	FLNA	OMIM:304120
HP:0045008	Abnormal shape of the radius	3207	HOXA11	OMIM:605432
HP:0045008	Abnormal shape of the radius	64175	P3H1	OMIM:610915
HP:0045008	Abnormal shape of the radius	126792	B3GALT6	OMIM:271640
HP:0002818	Abnormal morphology of the radius	5573	PRKAR1A	ORPHA:950
HP:0002818	Abnormal morphology of the radius	5144	PDE4D	ORPHA:950
HP:0002818	Abnormal morphology of the radius	6473	SHOX	ORPHA:240
HP:0002818	Abnormal morphology of the radius	8200	GDF5	ORPHA:2639
HP:0002818	Abnormal morphology of the radius	658	BMPR1B	ORPHA:2639
HP:0002818	Abnormal morphology of the radius	57167	SALL4	ORPHA:959
HP:0002818	Abnormal morphology of the radius	2317	FLNB	ORPHA:1263
HP:0002818	Abnormal morphology of the radius	7040	TGFB1	ORPHA:1328
HP:0002818	Abnormal morphology of the radius	6926	TBX3	ORPHA:3138
HP:0002818	Abnormal morphology of the radius	23476	BRD4	ORPHA:199
HP:0002818	Abnormal morphology of the radius	9126	SMC3	ORPHA:199
HP:0002818	Abnormal morphology of the radius	8243	SMC1A	ORPHA:199
HP:0002818	Abnormal morphology of the radius	25836	NIPBL	ORPHA:199
HP:0002818	Abnormal morphology of the radius	55869	HDAC8	ORPHA:199
HP:0002818	Abnormal morphology of the radius	5885	RAD21	ORPHA:199
HP:0002818	Abnormal morphology of the radius	5885	RAD21	OMIM:614701
HP:0002818	Abnormal morphology of the radius	11285	B4GALT7	OMIM:130070
HP:0002818	Abnormal morphology of the radius	4091	SMAD6	OMIM:179300
HP:0002818	Abnormal morphology of the radius	10262	SF3B4	OMIM:154400
HP:0002818	Abnormal morphology of the radius	10262	SF3B4	ORPHA:1788
HP:0002818	Abnormal morphology of the radius	5447	POR	OMIM:201750
HP:0002818	Abnormal morphology of the radius	5447	POR	ORPHA:95699
HP:0002818	Abnormal morphology of the radius	6910	TBX5	ORPHA:392
HP:0002818	Abnormal morphology of the radius	5648	MASP1	OMIM:257920
HP:0002818	Abnormal morphology of the radius	5648	MASP1	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	6154	RPL26	OMIM:614900
HP:0002818	Abnormal morphology of the radius	6804	STX1A	ORPHA:904
HP:0002818	Abnormal morphology of the radius	7461	CLIP2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	84277	DNAJC30	ORPHA:904
HP:0002818	Abnormal morphology of the radius	8468	FKBP6	ORPHA:904
HP:0002818	Abnormal morphology of the radius	5982	RFC2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2969	GTF2I	ORPHA:904
HP:0002818	Abnormal morphology of the radius	3984	LIMK1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	9569	GTF2IRD1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	155382	VPS37D	ORPHA:904
HP:0002818	Abnormal morphology of the radius	155368	METTL27	ORPHA:904
HP:0002818	Abnormal morphology of the radius	114049	BUD23	ORPHA:904
HP:0002818	Abnormal morphology of the radius	7458	EIF4H	ORPHA:904
HP:0002818	Abnormal morphology of the radius	84163	GTF2IRD2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	9275	BCL7B	ORPHA:904
HP:0002818	Abnormal morphology of the radius	26608	TBL2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	653361	NCF1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	135886	TMEM270	ORPHA:904
HP:0002818	Abnormal morphology of the radius	51085	MLXIPL	ORPHA:904
HP:0002818	Abnormal morphology of the radius	51085	MLXIPL	OMIM:194050
HP:0002818	Abnormal morphology of the radius	9031	BAZ1B	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2006	ELN	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2006	ELN	OMIM:194050
HP:0002818	Abnormal morphology of the radius	2122	MECOM	ORPHA:71289
HP:0002818	Abnormal morphology of the radius	2122	MECOM	OMIM:616738
HP:0002818	Abnormal morphology of the radius	3207	HOXA11	ORPHA:71289
HP:0002818	Abnormal morphology of the radius	78989	COLEC11	OMIM:265050
HP:0002818	Abnormal morphology of the radius	78989	COLEC11	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	54880	BCOR	OMIM:300166
HP:0002818	Abnormal morphology of the radius	54880	BCOR	ORPHA:2712
HP:0002818	Abnormal morphology of the radius	4094	MAF	ORPHA:1272
HP:0002818	Abnormal morphology of the radius	4094	MAF	OMIM:601088
HP:0002818	Abnormal morphology of the radius	29998	BICRA	OMIM:619325
HP:0002818	Abnormal morphology of the radius	23522	KAT6B	ORPHA:85201
HP:0002818	Abnormal morphology of the radius	23522	KAT6B	OMIM:606170
HP:0002818	Abnormal morphology of the radius	1723	DHODH	OMIM:263750
HP:0002818	Abnormal morphology of the radius	126792	B3GALT6	ORPHA:2725
HP:0002818	Abnormal morphology of the radius	126792	B3GALT6	ORPHA:536467
HP:0002818	Abnormal morphology of the radius	4038	LRP4	ORPHA:3258
HP:0002818	Abnormal morphology of the radius	4038	LRP4	OMIM:212780
HP:0002818	Abnormal morphology of the radius	324	APC	ORPHA:3258
HP:0002818	Abnormal morphology of the radius	63895	PIEZO2	OMIM:248700
HP:0002818	Abnormal morphology of the radius	63895	PIEZO2	ORPHA:2461
HP:0002818	Abnormal morphology of the radius	10584	COLEC10	OMIM:248340
HP:0002818	Abnormal morphology of the radius	10584	COLEC10	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	50945	TBX22	OMIM:302905
HP:0002818	Abnormal morphology of the radius	50945	TBX22	ORPHA:921
HP:0002818	Abnormal morphology of the radius	22800	RRAS2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	867	CBL	ORPHA:648
HP:0002818	Abnormal morphology of the radius	8216	LZTR1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6016	RIT1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6237	RRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5894	RAF1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	22808	MRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	3845	KRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	200734	SPRED2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	4893	NRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6654	SOS1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6655	SOS2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5781	PTPN11	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5922	RASA2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	22856	CHSY1	OMIM:605282
HP:0002818	Abnormal morphology of the radius	64131	XYLT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	124583	CANT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	55790	CSGALNACT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	9469	CHST3	OMIM:245600
HP:0002818	Abnormal morphology of the radius	26229	B3GAT3	OMIM:245600
HP:0002818	Abnormal morphology of the radius	7291	TWIST1	OMIM:101400
HP:0002818	Abnormal morphology of the radius	2263	FGFR2	OMIM:101400
HP:0002818	Abnormal morphology of the radius	29980	DONSON	OMIM:617604
HP:0002818	Abnormal morphology of the radius	53834	FGFRL1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	1487	CTBP1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	3954	LETM1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	7468	NSD2	OMIM:194190
HP:0002818	Abnormal morphology of the radius	10815	CPLX1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	26040	SETBP1	ORPHA:798
HP:0002818	Abnormal morphology of the radius	9935	MAFB	ORPHA:233
HP:0002818	Abnormal morphology of the radius	1123	CHN1	ORPHA:233
HP:0002818	Abnormal morphology of the radius	28981	IFT81	OMIM:617895
HP:0002818	Abnormal morphology of the radius	92002	CCNQ	ORPHA:140952
HP:0002818	Abnormal morphology of the radius	2255	FGF10	ORPHA:2363
HP:0002818	Abnormal morphology of the radius	9321	TRIP11	OMIM:200600
HP:0002818	Abnormal morphology of the radius	9939	RBM8A	OMIM:274000
HP:0002818	Abnormal morphology of the radius	6223	RPS19	OMIM:105650
HP:0002818	Abnormal morphology of the radius	79087	ALG12	OMIM:607143
HP:0002818	Abnormal morphology of the radius	9775	EIF4A3	OMIM:268305
HP:0002818	Abnormal morphology of the radius	4322	MMP13	OMIM:602111
HP:0002818	Abnormal morphology of the radius	1301	COL11A1	OMIM:154780
HP:0002818	Abnormal morphology of the radius	4882	NPR2	OMIM:602875
HP:0002818	Abnormal morphology of the radius	1280	COL2A1	OMIM:151210
HP:0002818	Abnormal morphology of the radius	8074	FGF23	OMIM:617993
HP:0002818	Abnormal morphology of the radius	2261	FGFR3	OMIM:100800
HP:0002818	Abnormal morphology of the radius	5593	PRKG2	OMIM:619636
HP:0002818	Abnormal morphology of the radius	59341	TRPV4	ORPHA:93314
HP:0002818	Abnormal morphology of the radius	91147	TMEM67	OMIM:602152
HP:0002818	Abnormal morphology of the radius	3549	IHH	OMIM:607778
HP:0002818	Abnormal morphology of the radius	567	B2M	OMIM:241600
HP:0002818	Abnormal morphology of the radius	112752	IFT43	OMIM:617866
HP:0002818	Abnormal morphology of the radius	3930	LBR	OMIM:618019
HP:0002818	Abnormal morphology of the radius	5116	PCNT	OMIM:210720
HP:0002818	Abnormal morphology of the radius	64175	P3H1	OMIM:610915
HP:0002818	Abnormal morphology of the radius	9791	PTDSS1	OMIM:151050
HP:0002818	Abnormal morphology of the radius	6913	TBX15	OMIM:260660
HP:0002818	Abnormal morphology of the radius	6913	TBX15	ORPHA:93333
HP:0002818	Abnormal morphology of the radius	9241	NOG	OMIM:186570
HP:0002818	Abnormal morphology of the radius	2260	FGFR1	OMIM:101600
HP:0002818	Abnormal morphology of the radius	7476	WNT7A	ORPHA:2879
HP:0002818	Abnormal morphology of the radius	7476	WNT7A	OMIM:276820
HP:0002818	Abnormal morphology of the radius	56603	CYP26B1	OMIM:614416
HP:0002818	Abnormal morphology of the radius	2254	FGF9	OMIM:612961
HP:0002818	Abnormal morphology of the radius	2131	EXT1	OMIM:133700
HP:0002818	Abnormal morphology of the radius	2132	EXT2	OMIM:133701
HP:0002818	Abnormal morphology of the radius	1182	CLCN3	OMIM:619512
HP:0002818	Abnormal morphology of the radius	85301	COL27A1	OMIM:615155
HP:0002818	Abnormal morphology of the radius	1387	CREBBP	OMIM:180849
HP:0002818	Abnormal morphology of the radius	2033	EP300	OMIM:180849
HP:0002818	Abnormal morphology of the radius	23233	EXOC6B	ORPHA:93359
HP:0002818	Abnormal morphology of the radius	23233	EXOC6B	OMIM:618395
HP:0002818	Abnormal morphology of the radius	4010	LMX1B	ORPHA:2614
HP:0002818	Abnormal morphology of the radius	6885	MAP3K7	OMIM:617137
HP:0002818	Abnormal morphology of the radius	6885	MAP3K7	ORPHA:1826
HP:0002818	Abnormal morphology of the radius	145258	GSC	OMIM:602471
HP:0002818	Abnormal morphology of the radius	10847	SRCAP	OMIM:136140
HP:0002818	Abnormal morphology of the radius	10847	SRCAP	ORPHA:2044
HP:0002818	Abnormal morphology of the radius	91179	SCARF2	OMIM:600920
HP:0002818	Abnormal morphology of the radius	8318	CDC45	OMIM:617063
HP:0002818	Abnormal morphology of the radius	2137	EXTL3	OMIM:617425
HP:0002818	Abnormal morphology of the radius	6662	SOX9	OMIM:114290
HP:0002818	Abnormal morphology of the radius	10225	CD96	OMIM:211750
HP:0002818	Abnormal morphology of the radius	10225	CD96	ORPHA:1308
HP:0002818	Abnormal morphology of the radius	2067	ERCC1	OMIM:610758
HP:0002818	Abnormal morphology of the radius	2535	FZD2	OMIM:164745
HP:0002818	Abnormal morphology of the radius	4920	ROR2	OMIM:268310
HP:0002818	Abnormal morphology of the radius	1146	CHRNG	OMIM:265000
HP:0002818	Abnormal morphology of the radius	6497	SKI	OMIM:182212
HP:0002818	Abnormal morphology of the radius	2316	FLNA	OMIM:305620
HP:0002818	Abnormal morphology of the radius	2316	FLNA	ORPHA:1826
HP:0002818	Abnormal morphology of the radius	2316	FLNA	OMIM:311300
HP:0002818	Abnormal morphology of the radius	3835	KIF22	OMIM:603546
HP:0002818	Abnormal morphology of the radius	57492	ARID1B	OMIM:135900
HP:0002818	Abnormal morphology of the radius	3899	AFF3	OMIM:619297
HP:0002818	Abnormal morphology of the radius	4853	NOTCH2	OMIM:102500
HP:0002818	Abnormal morphology of the radius	100151683	RNU4ATAC	ORPHA:1824
HP:0002818	Abnormal morphology of the radius	7474	WNT5A	OMIM:180700
HP:0002818	Abnormal morphology of the radius	1855	DVL1	OMIM:180700
HP:0002818	Abnormal morphology of the radius	1277	COL1A1	ORPHA:287
HP:0002818	Abnormal morphology of the radius	1289	COL5A1	ORPHA:287
HP:0002818	Abnormal morphology of the radius	1290	COL5A2	ORPHA:287
HP:0002818	Abnormal morphology of the radius	3897	L1CAM	OMIM:304100
HP:0002818	Abnormal morphology of the radius	171023	ASXL1	OMIM:605039
HP:0002818	Abnormal morphology of the radius	91252	SLC39A13	OMIM:612350
HP:0002818	Abnormal morphology of the radius	649	BMP1	OMIM:614856
HP:0002818	Abnormal morphology of the radius	7547	ZIC3	OMIM:314390
HP:0002818	Abnormal morphology of the radius	54101	RIPK4	OMIM:263650
HP:0002818	Abnormal morphology of the radius	55636	CHD7	OMIM:214800
HP:0002818	Abnormal morphology of the radius	202018	TAPT1	OMIM:616897
HP:0002818	Abnormal morphology of the radius	9401	RECQL4	ORPHA:221016
HP:0002818	Abnormal morphology of the radius	157570	ESCO2	OMIM:216100
HP:0002818	Abnormal morphology of the radius	64682	ANAPC1	ORPHA:221008
HP:0002818	Abnormal morphology of the radius	1297	COL9A1	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	1298	COL9A2	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	1299	COL9A3	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	633	BGN	OMIM:300106
HP:0002818	Abnormal morphology of the radius	1836	SLC26A2	ORPHA:93307
HP:0002818	Abnormal morphology of the radius	1311	COMP	OMIM:177170
HP:0002818	Abnormal morphology of the radius	1300	COL10A1	ORPHA:174
HP:0002818	Abnormal morphology of the radius	54809	SAMD9	OMIM:617053
HP:0002818	Abnormal morphology of the radius	2737	GLI3	ORPHA:93322
HP:0002818	Abnormal morphology of the radius	10082	GPC6	OMIM:258315
HP:0002818	Abnormal morphology of the radius	387733	IFITM5	OMIM:610967
HP:0002818	Abnormal morphology of the radius	64135	IFIH1	OMIM:182250
HP:0002818	Abnormal morphology of the radius	5888	RAD51	OMIM:617244
HP:0002818	Abnormal morphology of the radius	545	ATR	OMIM:210600
HP:0002818	Abnormal morphology of the radius	27125	AFF4	ORPHA:444077
HP:0002818	Abnormal morphology of the radius	8241	RBM10	ORPHA:2886
HP:0002818	Abnormal morphology of the radius	5980	REV3L	ORPHA:570
HP:0002818	Abnormal morphology of the radius	23129	PLXND1	ORPHA:570
HP:0002818	Abnormal morphology of the radius	4318	MMP9	ORPHA:1040
HP:0002818	Abnormal morphology of the radius	7140	TNNT3	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	4621	MYH3	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	7169	TPM2	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	259232	NALCN	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	7136	TNNI2	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	672	BRCA1	ORPHA:84
HP:0002818	Abnormal morphology of the radius	10459	MAD2L2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	7516	XRCC2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	29089	UBE2T	ORPHA:84
HP:0002818	Abnormal morphology of the radius	675	BRCA2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55120	FANCL	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2177	FANCD2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2175	FANCA	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2187	FANCB	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2176	FANCC	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2178	FANCE	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2188	FANCF	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2189	FANCG	ORPHA:84
HP:0002818	Abnormal morphology of the radius	5889	RAD51C	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55159	RFWD3	ORPHA:84
HP:0002818	Abnormal morphology of the radius	83990	BRIP1	ORPHA:84
HP:0002818	Abnormal morphology of the radius	57697	FANCM	ORPHA:84
HP:0002818	Abnormal morphology of the radius	79728	PALB2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	84464	SLX4	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2072	ERCC4	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55215	FANCI	ORPHA:84
HP:0002818	Abnormal morphology of the radius	3239	HOXD13	ORPHA:887
HP:0002818	Abnormal morphology of the radius	60681	FKBP10	ORPHA:1149
HP:0002818	Abnormal morphology of the radius	9555	MACROH2A1	ORPHA:1275
HP:0002818	Abnormal morphology of the radius	5307	PITX1	ORPHA:1275
HP:0002818	Abnormal morphology of the radius	1717	DHCR7	ORPHA:818
HP:0002818	Abnormal morphology of the radius	64327	LMBR1	ORPHA:93321
HP:0002818	Abnormal morphology of the radius	6469	SHH	ORPHA:93321
HP:0002818	Abnormal morphology of the radius	7204	TRIO	ORPHA:476126
HP:0045010	Abnormal peripheral nerve morphology by anatomical site	22943	DKK1	ORPHA:268882
HP:0045010	Abnormal peripheral nerve morphology by anatomical site	79628	SH3TC2	OMIM:601596
HP:0045010	Abnormal peripheral nerve morphology by anatomical site	28982	FLVCR1	ORPHA:88628
HP:0045010	Abnormal peripheral nerve morphology by anatomical site	50846	DHH	ORPHA:168563
HP:0045014	Hypolipidemia	22948	CCT5	OMIM:256840
HP:0045014	Hypolipidemia	27329	ANGPTL3	OMIM:605019
HP:0045014	Hypolipidemia	51128	SAR1B	OMIM:246700
HP:0045014	Hypolipidemia	4547	MTTP	ORPHA:14
HP:0045014	Hypolipidemia	1071	CETP	ORPHA:79506
HP:0045014	Hypolipidemia	345	APOC3	ORPHA:79506
HP:0045014	Hypolipidemia	345	APOC3	OMIM:614028
HP:0045014	Hypolipidemia	55768	NGLY1	ORPHA:404454
HP:0045014	Hypolipidemia	2590	GALNT2	OMIM:618885
HP:0045014	Hypolipidemia	5130	PCYT1A	ORPHA:85167
HP:0045014	Hypolipidemia	8309	ACOX2	OMIM:617308
HP:0045017	Congenital malformation of the left heart	2294	FOXF1	OMIM:265380
HP:0045017	Congenital malformation of the left heart	2294	FOXF1	ORPHA:210122
HP:0045017	Congenital malformation of the left heart	7490	WT1	OMIM:608978
HP:0045017	Congenital malformation of the left heart	7490	WT1	ORPHA:3097
HP:0045017	Congenital malformation of the left heart	10735	STAG2	OMIM:301043
HP:0045017	Congenital malformation of the left heart	10735	STAG2	OMIM:301022
HP:0045017	Congenital malformation of the left heart	6910	TBX5	ORPHA:392
HP:0045017	Congenital malformation of the left heart	6910	TBX5	OMIM:142900
HP:0045017	Congenital malformation of the left heart	65250	CPLANE1	OMIM:277170
HP:0045017	Congenital malformation of the left heart	7026	NR2F2	OMIM:618901
HP:0045017	Congenital malformation of the left heart	7026	NR2F2	OMIM:615779
HP:0045017	Congenital malformation of the left heart	1387	CREBBP	OMIM:180849
HP:0045017	Congenital malformation of the left heart	2033	EP300	OMIM:180849
HP:0045017	Congenital malformation of the left heart	11020	IFT27	OMIM:615996
HP:0045017	Congenital malformation of the left heart	1024	CDK8	OMIM:618748
HP:0045017	Congenital malformation of the left heart	57514	ARHGAP31	OMIM:100300
HP:0045017	Congenital malformation of the left heart	145173	B3GLCT	ORPHA:709
HP:0045017	Congenital malformation of the left heart	6899	TBX1	ORPHA:1727
HP:0045017	Congenital malformation of the left heart	8405	SPOP	OMIM:618829
HP:0045017	Congenital malformation of the left heart	1837	DTNA	OMIM:604169
HP:0045017	Congenital malformation of the left heart	23498	HAAO	OMIM:617660
HP:0045017	Congenital malformation of the left heart	3021	H3-3B	OMIM:619721
HP:0045017	Congenital malformation of the left heart	2627	GATA6	OMIM:614474
HP:0045017	Congenital malformation of the left heart	219854	TMEM218	OMIM:619562
HP:0045017	Congenital malformation of the left heart	8942	KYNU	OMIM:617661
HP:0045017	Congenital malformation of the left heart	2697	GJA1	ORPHA:2248
HP:0045017	Congenital malformation of the left heart	1482	NKX2-5	ORPHA:2248
HP:0045017	Congenital malformation of the left heart	1482	NKX2-5	OMIM:614435
HP:0045017	Congenital malformation of the left heart	1482	NKX2-5	ORPHA:402075
HP:0045017	Congenital malformation of the left heart	55784	MCTP2	ORPHA:1596
HP:0045017	Congenital malformation of the left heart	4851	NOTCH1	ORPHA:402075
HP:0045017	Congenital malformation of the left heart	140628	GATA5	ORPHA:402075
HP:0045017	Congenital malformation of the left heart	4091	SMAD6	ORPHA:402075
HP:0045017	Congenital malformation of the left heart	5053	PAH	ORPHA:2209
HP:0045017	Congenital malformation of the left heart	745	MYRF	OMIM:618280
HP:0045017	Congenital malformation of the left heart	7547	ZIC3	OMIM:306955
HP:0045017	Congenital malformation of the left heart	9897	WASHC5	OMIM:220210
HP:0045017	Congenital malformation of the left heart	9897	WASHC5	ORPHA:7
HP:0045017	Congenital malformation of the left heart	84231	TRAF7	OMIM:618164
HP:0045017	Congenital malformation of the left heart	8195	MKKS	ORPHA:2473
HP:0045017	Congenital malformation of the left heart	55191	NADSYN1	OMIM:618845
HP:0045017	Congenital malformation of the left heart	2626	GATA4	ORPHA:251071
HP:0045017	Congenital malformation of the left heart	28952	CCDC22	ORPHA:7
HP:0045017	Congenital malformation of the left heart	51117	COQ4	OMIM:616276
HP:0045017	Congenital malformation of the left heart	168507	PKD1L1	OMIM:617205
HP:0045017	Congenital malformation of the left heart	220136	CFAP53	OMIM:614779
HP:0045017	Congenital malformation of the left heart	2783	GNB2	OMIM:619503
HP:0045017	Congenital malformation of the left heart	100128908	CIROP	OMIM:619702
HP:0045017	Congenital malformation of the left heart	2313	FLI1	ORPHA:2308
HP:0045017	Congenital malformation of the left heart	29123	ANKRD11	ORPHA:2332
HP:0045017	Congenital malformation of the left heart	11128	POLR3A	ORPHA:3455
HP:0045025	Narrow palpebral fissure	51574	LARP7	OMIM:615071
HP:0045025	Narrow palpebral fissure	51574	LARP7	ORPHA:319671
HP:0045025	Narrow palpebral fissure	57459	GATAD2B	OMIM:615074
HP:0045025	Narrow palpebral fissure	57459	GATAD2B	ORPHA:363686
HP:0045025	Narrow palpebral fissure	27316	RBMX	OMIM:300238
HP:0045025	Narrow palpebral fissure	23013	SPEN	OMIM:619312
HP:0045025	Narrow palpebral fissure	55621	TRMT1	OMIM:618302
HP:0045025	Narrow palpebral fissure	388662	SLC6A17	ORPHA:457212
HP:0045025	Narrow palpebral fissure	388662	SLC6A17	OMIM:616269
HP:0045025	Narrow palpebral fissure	10847	SRCAP	OMIM:619595
HP:0045025	Narrow palpebral fissure	145173	B3GLCT	OMIM:261540
HP:0045025	Narrow palpebral fissure	23394	ADNP	OMIM:615873
HP:0045025	Narrow palpebral fissure	5238	PGM3	ORPHA:443811
HP:0045025	Narrow palpebral fissure	1788	DNMT3A	OMIM:615879
HP:0045025	Narrow palpebral fissure	1788	DNMT3A	ORPHA:404443
HP:0045025	Narrow palpebral fissure	57539	WDR35	OMIM:613610
HP:0045025	Narrow palpebral fissure	6134	RPL10	ORPHA:459070
HP:0045025	Narrow palpebral fissure	11128	POLR3A	OMIM:264090
HP:0045025	Narrow palpebral fissure	55165	CEP55	OMIM:236500
HP:0045025	Narrow palpebral fissure	8405	SPOP	OMIM:618828
HP:0045025	Narrow palpebral fissure	9401	RECQL4	OMIM:268400
HP:0045025	Narrow palpebral fissure	9401	RECQL4	OMIM:266280
HP:0045025	Narrow palpebral fissure	79718	TBL1XR1	OMIM:602342
HP:0045025	Narrow palpebral fissure	79718	TBL1XR1	ORPHA:487825
HP:0045025	Narrow palpebral fissure	284252	KCTD1	OMIM:181270
HP:0045025	Narrow palpebral fissure	10682	EBP	OMIM:300960
HP:0045025	Narrow palpebral fissure	4089	SMAD4	OMIM:139210
HP:0045025	Narrow palpebral fissure	7750	ZMYM2	OMIM:619522
HP:0045025	Narrow palpebral fissure	9578	CDC42BPB	OMIM:619841
HP:0045025	Narrow palpebral fissure	29998	BICRA	OMIM:619325
HP:0045025	Narrow palpebral fissure	388015	RTL1	ORPHA:254528
HP:0045025	Narrow palpebral fissure	8788	DLK1	ORPHA:254528
HP:0045025	Narrow palpebral fissure	55384	MEG3	ORPHA:254528
HP:0045025	Narrow palpebral fissure	23030	KDM4B	OMIM:619320
HP:0045025	Narrow palpebral fissure	30008	EFEMP2	OMIM:614437
HP:0045025	Narrow palpebral fissure	5831	PYCR1	OMIM:614438
HP:0045025	Narrow palpebral fissure	9993	DGCR2	OMIM:192430
HP:0045025	Narrow palpebral fissure	8220	ESS2	OMIM:192430
HP:0045025	Narrow palpebral fissure	8214	DGCR6	OMIM:192430
HP:0045025	Narrow palpebral fissure	54487	DGCR8	OMIM:192430
HP:0045025	Narrow palpebral fissure	6899	TBX1	OMIM:192430
HP:0045025	Narrow palpebral fissure	118924	FRA10AC1	OMIM:620113
HP:0045025	Narrow palpebral fissure	26153	KIF26A	OMIM:620156
HP:0045025	Narrow palpebral fissure	4297	KMT2A	OMIM:605130
HP:0045025	Narrow palpebral fissure	2556	GABRA3	OMIM:301091
HP:0045025	Narrow palpebral fissure	9759	HDAC4	OMIM:600430
HP:0045025	Narrow palpebral fissure	6595	SMARCA2	OMIM:619293
HP:0045025	Narrow palpebral fissure	6595	SMARCA2	OMIM:601358
HP:0045025	Narrow palpebral fissure	80267	EDEM3	OMIM:619493
HP:0045025	Narrow palpebral fissure	84295	PHF6	OMIM:301900
HP:0045025	Narrow palpebral fissure	23162	MAPK8IP3	OMIM:618443
HP:0045025	Narrow palpebral fissure	9320	TRIP12	OMIM:617752
HP:0045025	Narrow palpebral fissure	8913	CACNA1G	OMIM:618087
HP:0045025	Narrow palpebral fissure	10082	GPC6	OMIM:258315
HP:0045025	Narrow palpebral fissure	5116	PCNT	ORPHA:2637
HP:0045025	Narrow palpebral fissure	9969	MED13	OMIM:618009
HP:0045025	Narrow palpebral fissure	3339	HSPG2	OMIM:255800
HP:0045025	Narrow palpebral fissure	7703	PCGF2	OMIM:618371
HP:0045025	Narrow palpebral fissure	11133	KPTN	ORPHA:397612
HP:0045025	Narrow palpebral fissure	6913	TBX15	OMIM:260660
HP:0045025	Narrow palpebral fissure	1656	DDX6	OMIM:618653
HP:0045025	Narrow palpebral fissure	55714	TENM3	OMIM:615145
HP:0045025	Narrow palpebral fissure	4921	DDR2	OMIM:618175
HP:0045025	Narrow palpebral fissure	26173	INTS1	OMIM:618571
HP:0045025	Narrow palpebral fissure	80776	B9D2	OMIM:614175
HP:0045025	Narrow palpebral fissure	5144	PDE4D	ORPHA:439822
HP:0045025	Narrow palpebral fissure	8550	MAPKAPK5	OMIM:619869
HP:0045025	Narrow palpebral fissure	4613	MYCN	OMIM:164280
HP:0045025	Narrow palpebral fissure	79633	FAT4	OMIM:615546
HP:0045025	Narrow palpebral fissure	196528	ARID2	OMIM:617808
HP:0045025	Narrow palpebral fissure	57572	DOCK6	OMIM:614219
HP:0045026	Abnormal mediastinum morphology	11146	GLMN	ORPHA:83454
HP:0045026	Abnormal mediastinum morphology	64840	PORCN	ORPHA:2092
HP:0045026	Abnormal mediastinum morphology	4665	NAB2	ORPHA:2126
HP:0045026	Abnormal mediastinum morphology	6778	STAT6	ORPHA:2126
HP:0045026	Abnormal mediastinum morphology	8314	BAP1	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	4771	NF2	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	6598	SMARCB1	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	5155	PDGFB	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	84231	TRAF7	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	6608	SMO	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	207	AKT1	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	5290	PIK3CA	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	51684	SUFU	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	6605	SMARCE1	ORPHA:2495
HP:0045026	Abnormal mediastinum morphology	79651	RHBDF2	ORPHA:2198
HP:0045026	Abnormal mediastinum morphology	23476	BRD4	ORPHA:443167
HP:0045026	Abnormal mediastinum morphology	256646	NUTM1	ORPHA:443167
HP:0045026	Abnormal mediastinum morphology	26191	PTPN22	ORPHA:397
HP:0045026	Abnormal mediastinum morphology	3106	HLA-B	ORPHA:397
HP:0045026	Abnormal mediastinum morphology	3123	HLA-DRB1	ORPHA:397
HP:0045026	Abnormal mediastinum morphology	3123	HLA-DRB1	OMIM:181000
HP:0045026	Abnormal mediastinum morphology	3123	HLA-DRB1	ORPHA:545
HP:0045026	Abnormal mediastinum morphology	8974	P4HA2	ORPHA:397
HP:0045026	Abnormal mediastinum morphology	3115	HLA-DPB1	ORPHA:133
HP:0045026	Abnormal mediastinum morphology	348	APOE	ORPHA:158029
HP:0045026	Abnormal mediastinum morphology	330	BIRC3	ORPHA:52417
HP:0045026	Abnormal mediastinum morphology	10892	MALT1	ORPHA:52417
HP:0045026	Abnormal mediastinum morphology	27086	FOXP1	ORPHA:52417
HP:0045026	Abnormal mediastinum morphology	3492	IGH	ORPHA:52417
HP:0045026	Abnormal mediastinum morphology	3492	IGH	ORPHA:545
HP:0045026	Abnormal mediastinum morphology	8915	BCL10	ORPHA:52417
HP:0045026	Abnormal mediastinum morphology	84061	MAGT1	OMIM:300853
HP:0045026	Abnormal mediastinum morphology	7015	TERT	OMIM:614742
HP:0045026	Abnormal mediastinum morphology	56244	BTNL2	OMIM:612387
HP:0045026	Abnormal mediastinum morphology	5580	PRKCD	OMIM:615559
HP:0045026	Abnormal mediastinum morphology	596	BCL2	ORPHA:545
HP:0045026	Abnormal mediastinum morphology	604	BCL6	ORPHA:545
HP:0045026	Abnormal mediastinum morphology	440275	EIF2AK4	ORPHA:199241
HP:0045026	Abnormal mediastinum morphology	440275	EIF2AK4	OMIM:234810
HP:0045026	Abnormal mediastinum morphology	2130	EWSR1	ORPHA:83469
HP:0045026	Abnormal mediastinum morphology	7490	WT1	ORPHA:83469
HP:0045026	Abnormal mediastinum morphology	10125	RASGRP1	OMIM:618534
HP:0045026	Abnormal mediastinum morphology	5294	PIK3CG	OMIM:619802
HP:0045026	Abnormal mediastinum morphology	3662	IRF4	ORPHA:3452
HP:0045026	Abnormal mediastinum morphology	10551	AGR2	OMIM:620233
HP:0045026	Abnormal mediastinum morphology	1536	CYBB	ORPHA:379
HP:0045026	Abnormal mediastinum morphology	4688	NCF2	ORPHA:379
HP:0045026	Abnormal mediastinum morphology	1535	CYBA	ORPHA:379
HP:0045026	Abnormal mediastinum morphology	4689	NCF4	ORPHA:379
HP:0045026	Abnormal mediastinum morphology	653361	NCF1	ORPHA:379
HP:0045026	Abnormal mediastinum morphology	79415	CYBC1	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	11146	GLMN	ORPHA:83454
HP:0045027	Abnormality of the thoracic cavity	64840	PORCN	ORPHA:2092
HP:0045027	Abnormality of the thoracic cavity	4665	NAB2	ORPHA:2126
HP:0045027	Abnormality of the thoracic cavity	6778	STAT6	ORPHA:2126
HP:0045027	Abnormality of the thoracic cavity	8314	BAP1	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	4771	NF2	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	6598	SMARCB1	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	5155	PDGFB	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	84231	TRAF7	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	6608	SMO	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	207	AKT1	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	5290	PIK3CA	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	51684	SUFU	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	6605	SMARCE1	ORPHA:2495
HP:0045027	Abnormality of the thoracic cavity	79651	RHBDF2	ORPHA:2198
HP:0045027	Abnormality of the thoracic cavity	23476	BRD4	ORPHA:443167
HP:0045027	Abnormality of the thoracic cavity	256646	NUTM1	ORPHA:443167
HP:0045027	Abnormality of the thoracic cavity	79158	GNPTAB	ORPHA:576
HP:0045027	Abnormality of the thoracic cavity	4052	LTBP1	ORPHA:90349
HP:0045027	Abnormality of the thoracic cavity	30008	EFEMP2	ORPHA:90349
HP:0045027	Abnormality of the thoracic cavity	10516	FBLN5	ORPHA:90349
HP:0045027	Abnormality of the thoracic cavity	134218	DNAJC21	ORPHA:811
HP:0045027	Abnormality of the thoracic cavity	79631	EFL1	ORPHA:811
HP:0045027	Abnormality of the thoracic cavity	51119	SBDS	ORPHA:811
HP:0045027	Abnormality of the thoracic cavity	6729	SRP54	ORPHA:811
HP:0045027	Abnormality of the thoracic cavity	26191	PTPN22	ORPHA:397
HP:0045027	Abnormality of the thoracic cavity	3106	HLA-B	ORPHA:397
HP:0045027	Abnormality of the thoracic cavity	3123	HLA-DRB1	ORPHA:397
HP:0045027	Abnormality of the thoracic cavity	3123	HLA-DRB1	OMIM:181000
HP:0045027	Abnormality of the thoracic cavity	3123	HLA-DRB1	ORPHA:545
HP:0045027	Abnormality of the thoracic cavity	8974	P4HA2	ORPHA:397
HP:0045027	Abnormality of the thoracic cavity	3115	HLA-DPB1	ORPHA:133
HP:0045027	Abnormality of the thoracic cavity	348	APOE	ORPHA:158029
HP:0045027	Abnormality of the thoracic cavity	330	BIRC3	ORPHA:52417
HP:0045027	Abnormality of the thoracic cavity	10892	MALT1	ORPHA:52417
HP:0045027	Abnormality of the thoracic cavity	27086	FOXP1	ORPHA:52417
HP:0045027	Abnormality of the thoracic cavity	3492	IGH	ORPHA:52417
HP:0045027	Abnormality of the thoracic cavity	3492	IGH	ORPHA:545
HP:0045027	Abnormality of the thoracic cavity	8915	BCL10	ORPHA:52417
HP:0045027	Abnormality of the thoracic cavity	84061	MAGT1	OMIM:300853
HP:0045027	Abnormality of the thoracic cavity	7015	TERT	OMIM:614742
HP:0045027	Abnormality of the thoracic cavity	56244	BTNL2	OMIM:612387
HP:0045027	Abnormality of the thoracic cavity	5580	PRKCD	OMIM:615559
HP:0045027	Abnormality of the thoracic cavity	596	BCL2	ORPHA:545
HP:0045027	Abnormality of the thoracic cavity	604	BCL6	ORPHA:545
HP:0045027	Abnormality of the thoracic cavity	440275	EIF2AK4	ORPHA:199241
HP:0045027	Abnormality of the thoracic cavity	440275	EIF2AK4	OMIM:234810
HP:0045027	Abnormality of the thoracic cavity	2130	EWSR1	ORPHA:83469
HP:0045027	Abnormality of the thoracic cavity	7490	WT1	ORPHA:83469
HP:0045027	Abnormality of the thoracic cavity	10125	RASGRP1	OMIM:618534
HP:0045027	Abnormality of the thoracic cavity	5294	PIK3CG	OMIM:619802
HP:0045027	Abnormality of the thoracic cavity	3662	IRF4	ORPHA:3452
HP:0045027	Abnormality of the thoracic cavity	10551	AGR2	OMIM:620233
HP:0045027	Abnormality of the thoracic cavity	1536	CYBB	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	4688	NCF2	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	1535	CYBA	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	4689	NCF4	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	653361	NCF1	ORPHA:379
HP:0045027	Abnormality of the thoracic cavity	79415	CYBC1	ORPHA:379
HP:0045028	Microlissencephaly	11113	CIT	OMIM:617090
HP:0045028	Microlissencephaly	100151683	RNU4ATAC	OMIM:210710
HP:0045028	Microlissencephaly	9928	KIF14	OMIM:617914
HP:0045028	Microlissencephaly	10300	KATNB1	OMIM:616212
HP:0045028	Microlissencephaly	10300	KATNB1	ORPHA:89844
HP:0045028	Microlissencephaly	5649	RELN	ORPHA:89844
HP:0045028	Microlissencephaly	54820	NDE1	ORPHA:89844
HP:0045034	Elevated urinary aminoisobutyric acid	4329	ALDH6A1	OMIM:614105
HP:0045036	Abnormal urinary copper concentration	540	ATP7B	OMIM:277900
HP:0045037	Abnormality of jaw muscles	23175	LPIN1	ORPHA:99845
HP:0045037	Abnormality of jaw muscles	4512	MT-CO1	ORPHA:99845
HP:0045037	Abnormality of jaw muscles	4514	MT-CO3	ORPHA:99845
HP:0045037	Abnormality of jaw muscles	4487	MSX1	ORPHA:141291
HP:0045037	Abnormality of jaw muscles	5818	NECTIN1	ORPHA:141291
HP:0045037	Abnormality of jaw muscles	8626	TP63	ORPHA:141291
HP:0045037	Abnormality of jaw muscles	3664	IRF6	ORPHA:141291
HP:0045037	Abnormality of jaw muscles	9289	ADGRG1	ORPHA:98889
HP:0045037	Abnormality of jaw muscles	5297	PI4KA	ORPHA:98889
HP:0045037	Abnormality of jaw muscles	27286	SRPX2	ORPHA:98889
HP:0045037	Abnormality of jaw muscles	6329	SCN4A	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	1134	CHRNA1	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	4038	LRP4	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	1305	COL13A1	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	1140	CHRNB1	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	1144	CHRND	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	1145	CHRNE	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	4593	MUSK	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	5913	RAPSN	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	375790	AGRN	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	221264	AK9	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	285489	DOK7	ORPHA:98913
HP:0045037	Abnormality of jaw muscles	6310	ATXN1	ORPHA:98755
HP:0045037	Abnormality of jaw muscles	779	CACNA1S	ORPHA:423
HP:0045037	Abnormality of jaw muscles	6261	RYR1	ORPHA:423
HP:0045037	Abnormality of jaw muscles	10755	GIPC1	ORPHA:98897
HP:0045037	Abnormality of jaw muscles	100996717	NOTCH2NLC	ORPHA:98897
HP:0045038	Gastric lymphoma	8915	BCL10	OMIM:137245
HP:0045039	Osteolysis involving bones of the upper limbs	4313	MMP2	ORPHA:371428
HP:0045039	Osteolysis involving bones of the upper limbs	4313	MMP2	OMIM:259600
HP:0045039	Osteolysis involving bones of the upper limbs	4323	MMP14	ORPHA:371428
HP:0045039	Osteolysis involving bones of the upper limbs	4323	MMP14	OMIM:277950
HP:0045039	Osteolysis involving bones of the upper limbs	9935	MAFB	OMIM:166300
HP:0045039	Osteolysis involving bones of the upper limbs	9935	MAFB	ORPHA:2774
HP:0045039	Osteolysis involving bones of the upper limbs	1281	COL3A1	OMIM:130050
HP:0045039	Osteolysis involving bones of the upper limbs	64135	IFIH1	OMIM:182250
HP:0045039	Osteolysis involving bones of the upper limbs	54463	RETREG1	OMIM:201300
HP:0045039	Osteolysis involving bones of the upper limbs	54463	RETREG1	OMIM:613115
HP:0045039	Osteolysis involving bones of the upper limbs	65125	WNK1	OMIM:201300
HP:0045039	Osteolysis involving bones of the upper limbs	6335	SCN9A	OMIM:201300
HP:0045039	Osteolysis involving bones of the upper limbs	547	KIF1A	OMIM:201300
HP:0045039	Osteolysis involving bones of the upper limbs	1075	CTSC	OMIM:245010
HP:0045039	Osteolysis involving bones of the upper limbs	4921	DDR2	OMIM:618175
HP:0045039	Osteolysis involving bones of the upper limbs	23586	RIGI	OMIM:616298
HP:0045039	Osteolysis involving bones of the upper limbs	25923	ATL3	OMIM:615632
HP:0045039	Osteolysis involving bones of the upper limbs	427	ASAH1	OMIM:228000
HP:0045039	Osteolysis involving bones of the upper limbs	2316	FLNA	OMIM:309350
HP:0045039	Osteolysis involving bones of the upper limbs	2316	FLNA	ORPHA:2484
HP:0045039	Osteolysis involving bones of the upper limbs	4853	NOTCH2	OMIM:102500
HP:0045039	Osteolysis involving bones of the upper limbs	3248	HPGD	OMIM:259100
HP:0045039	Osteolysis involving bones of the upper limbs	1513	CTSK	ORPHA:763
HP:0045039	Osteolysis involving bones of the upper limbs	1513	CTSK	OMIM:265800
HP:0045039	Osteolysis involving bones of the upper limbs	4000	LMNA	ORPHA:740
HP:0045039	Osteolysis involving bones of the upper limbs	4000	LMNA	OMIM:248370
HP:0045039	Osteolysis involving bones of the upper limbs	4000	LMNA	ORPHA:90153
HP:0045039	Osteolysis involving bones of the upper limbs	10269	ZMPSTE24	ORPHA:740
HP:0045039	Osteolysis involving bones of the upper limbs	10269	ZMPSTE24	OMIM:608612
HP:0045039	Osteolysis involving bones of the upper limbs	10269	ZMPSTE24	OMIM:275210
HP:0045039	Osteolysis involving bones of the upper limbs	10269	ZMPSTE24	ORPHA:90154
HP:0045039	Osteolysis involving bones of the upper limbs	8815	BANF1	OMIM:614008
HP:0045039	Osteolysis involving bones of the upper limbs	10651	MTX2	ORPHA:90153
HP:0045039	Osteolysis involving bones of the upper limbs	5159	PDGFRB	OMIM:601812
HP:0045040	Abnormal lactate dehydrogenase level	3043	HBB	ORPHA:232
HP:0045040	Abnormal lactate dehydrogenase level	9056	SLC7A7	ORPHA:470
HP:0045040	Abnormal lactate dehydrogenase level	4952	OCRL	OMIM:300555
HP:0045040	Abnormal lactate dehydrogenase level	4952	OCRL	OMIM:309000
HP:0045040	Abnormal lactate dehydrogenase level	10312	TCIRG1	OMIM:259700
HP:0045040	Abnormal lactate dehydrogenase level	2548	GAA	OMIM:232300
HP:0045040	Abnormal lactate dehydrogenase level	2548	GAA	ORPHA:308552
HP:0045040	Abnormal lactate dehydrogenase level	5828	PEX2	OMIM:614866
HP:0045040	Abnormal lactate dehydrogenase level	3123	HLA-DRB1	ORPHA:747
HP:0045040	Abnormal lactate dehydrogenase level	811	CALR	ORPHA:824
HP:0045040	Abnormal lactate dehydrogenase level	4352	MPL	ORPHA:824
HP:0045040	Abnormal lactate dehydrogenase level	3717	JAK2	ORPHA:824
HP:0045040	Abnormal lactate dehydrogenase level	54790	TET2	ORPHA:824
HP:0045040	Abnormal lactate dehydrogenase level	6775	STAT4	ORPHA:93552
HP:0045040	Abnormal lactate dehydrogenase level	6696	SPP1	ORPHA:93552
HP:0045040	Abnormal lactate dehydrogenase level	3654	IRAK1	ORPHA:93552
HP:0045040	Abnormal lactate dehydrogenase level	7157	TP53	ORPHA:668
HP:0045040	Abnormal lactate dehydrogenase level	5925	RB1	ORPHA:668
HP:0045040	Abnormal lactate dehydrogenase level	11200	CHEK2	ORPHA:668
HP:0045040	Abnormal lactate dehydrogenase level	79650	USB1	OMIM:604173
HP:0045040	Abnormal lactate dehydrogenase level	6718	AKR1D1	ORPHA:79303
HP:0045040	Abnormal lactate dehydrogenase level	5339	PLEC	ORPHA:254361
HP:0045040	Abnormal lactate dehydrogenase level	4609	MYC	ORPHA:543
HP:0045040	Abnormal lactate dehydrogenase level	23175	LPIN1	OMIM:268200
HP:0045040	Abnormal lactate dehydrogenase level	23175	LPIN1	ORPHA:99845
HP:0045040	Abnormal lactate dehydrogenase level	6573	SLC19A1	OMIM:601775
HP:0045040	Abnormal lactate dehydrogenase level	4522	MTHFD1	OMIM:617780
HP:0045040	Abnormal lactate dehydrogenase level	7504	XK	OMIM:300842
HP:0045040	Abnormal lactate dehydrogenase level	57169	ZNFX1	OMIM:619644
HP:0045040	Abnormal lactate dehydrogenase level	3162	HMOX1	OMIM:614034
HP:0045040	Abnormal lactate dehydrogenase level	1376	CPT2	OMIM:600649
HP:0045040	Abnormal lactate dehydrogenase level	6786	STIM1	OMIM:185070
HP:0045040	Abnormal lactate dehydrogenase level	3075	CFH	ORPHA:244242
HP:0045040	Abnormal lactate dehydrogenase level	3426	CFI	ORPHA:244242
HP:0045040	Abnormal lactate dehydrogenase level	4179	CD46	ORPHA:244242
HP:0045040	Abnormal lactate dehydrogenase level	101101692	HELLPAR	ORPHA:244242
HP:0045040	Abnormal lactate dehydrogenase level	226	ALDOA	OMIM:611881
HP:0045040	Abnormal lactate dehydrogenase level	10165	SLC25A13	ORPHA:247598
HP:0045040	Abnormal lactate dehydrogenase level	10531	PITRM1	OMIM:619405
HP:0045040	Abnormal lactate dehydrogenase level	5294	PIK3CG	OMIM:619802
HP:0045040	Abnormal lactate dehydrogenase level	4512	MT-CO1	ORPHA:99845
HP:0045040	Abnormal lactate dehydrogenase level	4514	MT-CO3	ORPHA:99845
HP:0045040	Abnormal lactate dehydrogenase level	54888	NSUN2	OMIM:611091
HP:0045040	Abnormal lactate dehydrogenase level	339855	KY	OMIM:617114
HP:0045040	Abnormal lactate dehydrogenase level	9215	LARGE1	OMIM:613154
HP:0045040	Abnormal lactate dehydrogenase level	2694	CBLIF	OMIM:261000
HP:0045040	Abnormal lactate dehydrogenase level	6208	RPS14	ORPHA:86841
HP:0045040	Abnormal lactate dehydrogenase level	10661	KLF1	OMIM:613673
HP:0045040	Abnormal lactate dehydrogenase level	3988	LIPA	OMIM:278000
HP:0045040	Abnormal lactate dehydrogenase level	57104	PNPLA2	ORPHA:98908
HP:0045040	Abnormal lactate dehydrogenase level	859	CAV3	OMIM:614321
HP:0045040	Abnormal lactate dehydrogenase level	5213	PFKM	OMIM:232800
HP:0045040	Abnormal lactate dehydrogenase level	8398	PLA2G6	ORPHA:35069
HP:0045040	Abnormal lactate dehydrogenase level	1719	DHFR	OMIM:613839
HP:0045040	Abnormal lactate dehydrogenase level	6521	SLC4A1	ORPHA:3202
HP:0045040	Abnormal lactate dehydrogenase level	9780	PIEZO1	ORPHA:3202
HP:0045040	Abnormal lactate dehydrogenase level	3783	KCNN4	ORPHA:3202
HP:0045040	Abnormal lactate dehydrogenase level	6005	RHAG	ORPHA:3203
HP:0045040	Abnormal lactate dehydrogenase level	6005	RHAG	ORPHA:71275
HP:0045040	Abnormal lactate dehydrogenase level	64241	ABCG8	OMIM:210250
HP:0045040	Abnormal lactate dehydrogenase level	5277	PIGA	ORPHA:447
HP:0045040	Abnormal lactate dehydrogenase level	1130	LYST	ORPHA:167
HP:0045040	Abnormal lactate dehydrogenase level	3158	HMGCS2	OMIM:605911
HP:0045040	Abnormal lactate dehydrogenase level	146059	CDAN1	OMIM:224120
HP:0045040	Abnormal lactate dehydrogenase level	9131	AIFM1	OMIM:310490
HP:0045040	Abnormal lactate dehydrogenase level	23230	VPS13A	ORPHA:2388
HP:0045040	Abnormal lactate dehydrogenase level	4598	MVK	OMIM:610377
HP:0045040	Abnormal lactate dehydrogenase level	90523	MLIP	OMIM:620138
HP:0045040	Abnormal lactate dehydrogenase level	28976	ACAD9	ORPHA:99901
HP:0045040	Abnormal lactate dehydrogenase level	9493	KIF23	OMIM:105600
HP:0045040	Abnormal lactate dehydrogenase level	6006	RHCE	ORPHA:71275
HP:0045040	Abnormal lactate dehydrogenase level	6007	RHD	ORPHA:71275
HP:0045040	Abnormal lactate dehydrogenase level	2313	FLI1	ORPHA:370348
HP:0045040	Abnormal lactate dehydrogenase level	34	ACADM	ORPHA:42
HP:0045040	Abnormal lactate dehydrogenase level	2624	GATA2	ORPHA:98827
HP:0045040	Abnormal lactate dehydrogenase level	3939	LDHA	ORPHA:284426
HP:0045040	Abnormal lactate dehydrogenase level	64374	SIL1	ORPHA:559
HP:0045040	Abnormal lactate dehydrogenase level	51763	INPP5K	ORPHA:559
HP:0045040	Abnormal lactate dehydrogenase level	2623	GATA1	ORPHA:67044
HP:0045040	Abnormal lactate dehydrogenase level	84892	POMGNT2	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	148789	B3GALNT2	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	79147	FKRP	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	29954	POMT2	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	1282	COL4A1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	729920	CRPPA	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	10329	RXYLT1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	1605	DAG1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	11041	B4GAT1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	10585	POMT1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	84197	POMK	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	2218	FKTN	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	55624	POMGNT1	ORPHA:899
HP:0045040	Abnormal lactate dehydrogenase level	3945	LDHB	OMIM:614128
HP:0045041	Reduced lactate dehydrogenase B level	3945	LDHB	OMIM:614128
HP:0045042	Decreased circulating complement C4 concentration	1776	DNASE1L3	OMIM:614420
HP:0045042	Decreased circulating complement C4 concentration	5580	PRKCD	OMIM:615559
HP:0045042	Decreased circulating complement C4 concentration	6775	STAT4	ORPHA:93552
HP:0045042	Decreased circulating complement C4 concentration	6696	SPP1	ORPHA:93552
HP:0045042	Decreased circulating complement C4 concentration	3654	IRAK1	ORPHA:93552
HP:0045042	Decreased circulating complement C4 concentration	720	C4A	OMIM:614380
HP:0045042	Decreased circulating complement C4 concentration	710	SERPING1	OMIM:106100
HP:0045042	Decreased circulating complement C4 concentration	51284	TLR7	OMIM:301080
HP:0045042	Decreased circulating complement C4 concentration	721	C4B	OMIM:614379
HP:0045044	Decreased circulating complement C4b concentration	721	C4B	OMIM:614379
HP:0045045	Elevated circulating acylcarnitine concentration	25974	MMACHC	ORPHA:79282
HP:0045045	Elevated circulating acylcarnitine concentration	84693	MCEE	OMIM:251120
HP:0045045	Elevated circulating acylcarnitine concentration	55788	LMBRD1	OMIM:277380
HP:0045045	Elevated circulating acylcarnitine concentration	5826	ABCD4	OMIM:614857
HP:0045045	Elevated circulating acylcarnitine concentration	51241	COX16	OMIM:619355
HP:0045045	Elevated circulating acylcarnitine concentration	23474	ETHE1	OMIM:602473
HP:0045045	Elevated circulating acylcarnitine concentration	35	ACADS	ORPHA:26792
HP:0045045	Elevated circulating acylcarnitine concentration	55065	SLC52A1	OMIM:615026
HP:0045045	Elevated circulating acylcarnitine concentration	128989	TANGO2	OMIM:616878
HP:0045045	Elevated circulating acylcarnitine concentration	128989	TANGO2	ORPHA:480864
HP:0045045	Elevated circulating acylcarnitine concentration	1376	CPT2	ORPHA:228302
HP:0045045	Elevated circulating acylcarnitine concentration	1376	CPT2	ORPHA:228305
HP:0045045	Elevated circulating acylcarnitine concentration	1376	CPT2	ORPHA:228308
HP:0045045	Elevated circulating acylcarnitine concentration	90624	LYRM7	OMIM:615838
HP:0045045	Elevated circulating acylcarnitine concentration	28976	ACAD9	ORPHA:99901
HP:0045045	Elevated circulating acylcarnitine concentration	3030	HADHA	OMIM:609015
HP:0045045	Elevated circulating acylcarnitine concentration	788	SLC25A20	ORPHA:159
HP:0045045	Elevated circulating acylcarnitine concentration	27034	ACAD8	ORPHA:79159
HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration	3483	IGFALS	OMIM:615961
HP:0045047	HbS hemoglobin	3043	HBB	ORPHA:90039
HP:0045047	HbS hemoglobin	3043	HBB	ORPHA:251380
HP:0045047	HbS hemoglobin	53335	BCL11A	ORPHA:251380
HP:0045047	HbS hemoglobin	10661	KLF1	ORPHA:251380
HP:0045047	HbS hemoglobin	3047	HBG1	ORPHA:251380
HP:0045047	HbS hemoglobin	3048	HBG2	ORPHA:251380
HP:0045048	Increased HbA2 hemoglobin	3043	HBB	ORPHA:90039
HP:0045048	Increased HbA2 hemoglobin	3043	HBB	ORPHA:231222
HP:0045048	Increased HbA2 hemoglobin	3043	HBB	OMIM:603902
HP:0045049	Abnormal DLCO	6609	SMPD1	OMIM:607616
HP:0045049	Abnormal DLCO	440275	EIF2AK4	ORPHA:199241
HP:0045049	Abnormal DLCO	440275	EIF2AK4	OMIM:234810
HP:0045049	Abnormal DLCO	1438	CSF2RA	OMIM:300770
HP:0045049	Abnormal DLCO	51750	RTEL1	OMIM:616373
HP:0045049	Abnormal DLCO	5073	PARN	OMIM:616371
HP:0045049	Abnormal DLCO	6440	SFTPC	OMIM:178500
HP:0045049	Abnormal DLCO	6440	SFTPC	OMIM:610913
HP:0045049	Abnormal DLCO	727897	MUC5B	OMIM:178500
HP:0045049	Abnormal DLCO	729238	SFTPA2	OMIM:178500
HP:0045049	Abnormal DLCO	7015	TERT	OMIM:178500
HP:0045049	Abnormal DLCO	7015	TERT	OMIM:614742
HP:0045049	Abnormal DLCO	64131	XYLT1	OMIM:264800
HP:0045049	Abnormal DLCO	64132	XYLT2	OMIM:264800
HP:0045049	Abnormal DLCO	368	ABCC6	OMIM:264800
HP:0045049	Abnormal DLCO	653509	SFTPA1	OMIM:619611
HP:0045049	Abnormal DLCO	26277	TINF2	OMIM:613990
HP:0045049	Abnormal DLCO	1314	COPA	OMIM:616414
HP:0045049	Abnormal DLCO	137682	NDUFAF6	OMIM:618913
HP:0045049	Abnormal DLCO	3123	HLA-DRB1	ORPHA:747
HP:0045051	Decreased DLCO	6609	SMPD1	OMIM:607616
HP:0045051	Decreased DLCO	440275	EIF2AK4	ORPHA:199241
HP:0045051	Decreased DLCO	440275	EIF2AK4	OMIM:234810
HP:0045051	Decreased DLCO	1438	CSF2RA	OMIM:300770
HP:0045051	Decreased DLCO	51750	RTEL1	OMIM:616373
HP:0045051	Decreased DLCO	5073	PARN	OMIM:616371
HP:0045051	Decreased DLCO	6440	SFTPC	OMIM:178500
HP:0045051	Decreased DLCO	6440	SFTPC	OMIM:610913
HP:0045051	Decreased DLCO	727897	MUC5B	OMIM:178500
HP:0045051	Decreased DLCO	729238	SFTPA2	OMIM:178500
HP:0045051	Decreased DLCO	7015	TERT	OMIM:178500
HP:0045051	Decreased DLCO	7015	TERT	OMIM:614742
HP:0045051	Decreased DLCO	64131	XYLT1	OMIM:264800
HP:0045051	Decreased DLCO	64132	XYLT2	OMIM:264800
HP:0045051	Decreased DLCO	368	ABCC6	OMIM:264800
HP:0045051	Decreased DLCO	653509	SFTPA1	OMIM:619611
HP:0045051	Decreased DLCO	26277	TINF2	OMIM:613990
HP:0045051	Decreased DLCO	1314	COPA	OMIM:616414
HP:0045051	Decreased DLCO	137682	NDUFAF6	OMIM:618913
HP:0045051	Decreased DLCO	3123	HLA-DRB1	ORPHA:747
HP:0045052	Abnormality of the brachial nerve plexus	5351	PLOD1	ORPHA:1900
HP:0045052	Abnormality of the brachial nerve plexus	8291	DYSF	ORPHA:268
HP:0045052	Abnormality of the brachial nerve plexus	10801	SEPTIN9	OMIM:162100
HP:0045054	Brachial plexus neuropathy	8291	DYSF	ORPHA:268
HP:0045054	Brachial plexus neuropathy	10801	SEPTIN9	OMIM:162100
HP:0045055	Tiger tail banding	2071	ERCC3	OMIM:616390
HP:0045055	Tiger tail banding	2071	ERCC3	ORPHA:33364
HP:0045055	Tiger tail banding	6897	TARS1	OMIM:618546
HP:0045055	Tiger tail banding	6897	TARS1	ORPHA:33364
HP:0045055	Tiger tail banding	2068	ERCC2	OMIM:601675
HP:0045055	Tiger tail banding	2068	ERCC2	ORPHA:33364
HP:0045055	Tiger tail banding	2961	GTF2E2	OMIM:616943
HP:0045055	Tiger tail banding	2961	GTF2E2	ORPHA:33364
HP:0045055	Tiger tail banding	404672	GTF2H5	OMIM:616395
HP:0045055	Tiger tail banding	404672	GTF2H5	ORPHA:33364
HP:0045055	Tiger tail banding	833	CARS1	ORPHA:33364
HP:0045055	Tiger tail banding	7737	RNF113A	ORPHA:33364
HP:0045055	Tiger tail banding	7737	RNF113A	OMIM:300953
HP:0045055	Tiger tail banding	136647	MPLKIP	ORPHA:33364
HP:0045055	Tiger tail banding	4141	MARS1	OMIM:619692
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	4868	NPHS1	ORPHA:839
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	5631	PRPS1	ORPHA:423479
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	54903	MKS1	OMIM:249000
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	5339	PLEC	OMIM:226730
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	3691	ITGB4	OMIM:226730
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	4952	OCRL	OMIM:309000
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	55768	NGLY1	OMIM:615273
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	5311	PKD2	OMIM:613095
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	11284	PNKP	OMIM:616267
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	174	AFP	OMIM:615970
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	54914	FOCAD	OMIM:619991
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	23533	PIK3R5	ORPHA:64753
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	23533	PIK3R5	OMIM:615217
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	23064	SETX	ORPHA:64753
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	23064	SETX	OMIM:606002
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	2184	FAH	OMIM:276700
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	5190	PEX6	ORPHA:95433
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	124454	EARS2	OMIM:614924
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	1716	DGUOK	OMIM:251880
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	4233	MET	ORPHA:33402
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	1499	CTNNB1	ORPHA:33402
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	26137	ZBTB20	OMIM:259050
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	23556	PIGN	ORPHA:280633
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	113220	KIF12	OMIM:619662
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	10459	MAD2L2	OMIM:617243
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	9971	NR1H4	OMIM:617049
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	472	ATM	OMIM:208900
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	10165	SLC25A13	ORPHA:247598
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	165918	RNF168	ORPHA:420741
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	2313	FLI1	ORPHA:370348
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	6794	STK11	OMIM:273300
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	8915	BCL10	OMIM:273300
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	3815	KIT	OMIM:273300
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	2261	FGFR3	OMIM:273300
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	5314	PKHD1	ORPHA:53035
HP:0045057	Decreased circulating alpha-fetoprotein concentration	174	AFP	OMIM:615969
HP:0045058	Abnormality of the testis size	4204	MECP2	OMIM:300055
HP:0045058	Abnormality of the testis size	4204	MECP2	ORPHA:3077
HP:0045058	Abnormality of the testis size	27316	RBMX	OMIM:300238
HP:0045058	Abnormality of the testis size	8367	H4C5	OMIM:619950
HP:0045058	Abnormality of the testis size	4763	NF1	ORPHA:139474
HP:0045058	Abnormality of the testis size	2332	FMR1	ORPHA:908
HP:0045058	Abnormality of the testis size	9968	MED12	OMIM:309520
HP:0045058	Abnormality of the testis size	9968	MED12	ORPHA:776
HP:0045058	Abnormality of the testis size	3973	LHCGR	ORPHA:3000
HP:0045058	Abnormality of the testis size	5728	PTEN	ORPHA:744
HP:0045058	Abnormality of the testis size	207	AKT1	ORPHA:744
HP:0045058	Abnormality of the testis size	2778	GNAS	ORPHA:562
HP:0045058	Abnormality of the testis size	170302	ARX	ORPHA:94083
HP:0045058	Abnormality of the testis size	11141	IL1RAPL1	OMIM:300143
HP:0045058	Abnormality of the testis size	1193	CLIC2	OMIM:300886
HP:0045058	Abnormality of the testis size	1193	CLIC2	ORPHA:324410
HP:0045058	Abnormality of the testis size	175	AGA	OMIM:208400
HP:0045058	Abnormality of the testis size	175	AGA	ORPHA:93
HP:0045058	Abnormality of the testis size	51114	ZDHHC9	ORPHA:776
HP:0045058	Abnormality of the testis size	65109	UPF3B	ORPHA:776
HP:0045058	Abnormality of the testis size	5573	PRKAR1A	ORPHA:1359
HP:0045058	Abnormality of the testis size	50940	PDE11A	ORPHA:1359
HP:0045058	Abnormality of the testis size	7252	TSHB	ORPHA:90674
HP:0045058	Abnormality of the testis size	1588	CYP19A1	ORPHA:91
HP:0045058	Abnormality of the testis size	2737	GLI3	ORPHA:672
HP:0045058	Abnormality of the testis size	2737	GLI3	OMIM:146510
HP:0045058	Abnormality of the testis size	2260	FGFR1	ORPHA:432
HP:0045058	Abnormality of the testis size	2260	FGFR1	ORPHA:478
HP:0045058	Abnormality of the testis size	81848	SPRY4	ORPHA:432
HP:0045058	Abnormality of the testis size	81848	SPRY4	OMIM:146110
HP:0045058	Abnormality of the testis size	81848	SPRY4	ORPHA:478
HP:0045058	Abnormality of the testis size	128674	PROKR2	ORPHA:432
HP:0045058	Abnormality of the testis size	128674	PROKR2	ORPHA:478
HP:0045058	Abnormality of the testis size	2253	FGF8	ORPHA:432
HP:0045058	Abnormality of the testis size	2253	FGF8	ORPHA:478
HP:0045058	Abnormality of the testis size	60675	PROK2	ORPHA:432
HP:0045058	Abnormality of the testis size	60675	PROK2	OMIM:610628
HP:0045058	Abnormality of the testis size	60675	PROK2	ORPHA:478
HP:0045058	Abnormality of the testis size	55636	CHD7	ORPHA:432
HP:0045058	Abnormality of the testis size	55636	CHD7	ORPHA:478
HP:0045058	Abnormality of the testis size	6870	TACR3	ORPHA:432
HP:0045058	Abnormality of the testis size	6870	TACR3	OMIM:614840
HP:0045058	Abnormality of the testis size	6870	TACR3	ORPHA:478
HP:0045058	Abnormality of the testis size	1848	DUSP6	ORPHA:432
HP:0045058	Abnormality of the testis size	1848	DUSP6	OMIM:146110
HP:0045058	Abnormality of the testis size	1848	DUSP6	ORPHA:478
HP:0045058	Abnormality of the testis size	26012	NSMF	ORPHA:432
HP:0045058	Abnormality of the testis size	26012	NSMF	OMIM:614838
HP:0045058	Abnormality of the testis size	55717	WDR11	ORPHA:432
HP:0045058	Abnormality of the testis size	55717	WDR11	OMIM:146110
HP:0045058	Abnormality of the testis size	55717	WDR11	OMIM:614858
HP:0045058	Abnormality of the testis size	55717	WDR11	ORPHA:478
HP:0045058	Abnormality of the testis size	9394	HS6ST1	ORPHA:432
HP:0045058	Abnormality of the testis size	9394	HS6ST1	OMIM:614880
HP:0045058	Abnormality of the testis size	9394	HS6ST1	ORPHA:478
HP:0045058	Abnormality of the testis size	2796	GNRH1	ORPHA:432
HP:0045058	Abnormality of the testis size	2796	GNRH1	OMIM:614841
HP:0045058	Abnormality of the testis size	2796	GNRH1	OMIM:146110
HP:0045058	Abnormality of the testis size	2798	GNRHR	ORPHA:432
HP:0045058	Abnormality of the testis size	2798	GNRHR	OMIM:146110
HP:0045058	Abnormality of the testis size	84634	KISS1R	ORPHA:432
HP:0045058	Abnormality of the testis size	84634	KISS1R	OMIM:614837
HP:0045058	Abnormality of the testis size	6866	TAC3	ORPHA:432
HP:0045058	Abnormality of the testis size	8822	FGF17	ORPHA:432
HP:0045058	Abnormality of the testis size	8822	FGF17	OMIM:146110
HP:0045058	Abnormality of the testis size	8822	FGF17	ORPHA:478
HP:0045058	Abnormality of the testis size	3814	KISS1	ORPHA:432
HP:0045058	Abnormality of the testis size	6662	SOX9	ORPHA:393
HP:0045058	Abnormality of the testis size	6662	SOX9	ORPHA:251510
HP:0045058	Abnormality of the testis size	6658	SOX3	ORPHA:393
HP:0045058	Abnormality of the testis size	6658	SOX3	ORPHA:90695
HP:0045058	Abnormality of the testis size	2516	NR5A1	ORPHA:393
HP:0045058	Abnormality of the testis size	2516	NR5A1	ORPHA:251510
HP:0045058	Abnormality of the testis size	2516	NR5A1	ORPHA:399805
HP:0045058	Abnormality of the testis size	6736	SRY	ORPHA:393
HP:0045058	Abnormality of the testis size	6736	SRY	ORPHA:251510
HP:0045058	Abnormality of the testis size	190	NR0B1	ORPHA:393
HP:0045058	Abnormality of the testis size	190	NR0B1	ORPHA:251510
HP:0045058	Abnormality of the testis size	8450	CUL4B	OMIM:300354
HP:0045058	Abnormality of the testis size	8450	CUL4B	ORPHA:85293
HP:0045058	Abnormality of the testis size	3763	KCNJ6	ORPHA:435628
HP:0045058	Abnormality of the testis size	6134	RPL10	OMIM:300998
HP:0045058	Abnormality of the testis size	6134	RPL10	ORPHA:459070
HP:0045058	Abnormality of the testis size	8473	OGT	OMIM:300997
HP:0045058	Abnormality of the testis size	23314	SATB2	ORPHA:251028
HP:0045058	Abnormality of the testis size	23314	SATB2	ORPHA:251019
HP:0045058	Abnormality of the testis size	84515	MCM8	OMIM:612885
HP:0045058	Abnormality of the testis size	1736	DKC1	OMIM:305000
HP:0045058	Abnormality of the testis size	1131	CHRM3	ORPHA:2970
HP:0045058	Abnormality of the testis size	2200	FBN1	ORPHA:284979
HP:0045058	Abnormality of the testis size	7258	TSPY1	ORPHA:1646
HP:0045058	Abnormality of the testis size	57055	DAZ2	ORPHA:1646
HP:0045058	Abnormality of the testis size	57135	DAZ4	ORPHA:1646
HP:0045058	Abnormality of the testis size	8287	USP9Y	ORPHA:1646
HP:0045058	Abnormality of the testis size	5940	RBMY1A1	ORPHA:1646
HP:0045058	Abnormality of the testis size	57054	DAZ3	ORPHA:1646
HP:0045058	Abnormality of the testis size	8653	DDX3Y	ORPHA:1646
HP:0045058	Abnormality of the testis size	1617	DAZ1	ORPHA:1646
HP:0045058	Abnormality of the testis size	10084	PQBP1	ORPHA:93950
HP:0045058	Abnormality of the testis size	10084	PQBP1	OMIM:309500
HP:0045058	Abnormality of the testis size	9150	CTDP1	OMIM:604168
HP:0045058	Abnormality of the testis size	55869	HDAC8	OMIM:300882
HP:0045058	Abnormality of the testis size	2488	FSHB	ORPHA:52901
HP:0045058	Abnormality of the testis size	2488	FSHB	OMIM:229070
HP:0045058	Abnormality of the testis size	1584	CYP11B1	OMIM:202010
HP:0045058	Abnormality of the testis size	201134	CEP112	OMIM:619044
HP:0045058	Abnormality of the testis size	8882	ZPR1	OMIM:619321
HP:0045058	Abnormality of the testis size	1528	CYB5A	ORPHA:90796
HP:0045058	Abnormality of the testis size	1586	CYP17A1	ORPHA:90796
HP:0045058	Abnormality of the testis size	131118	DNAJC19	OMIM:610198
HP:0045058	Abnormality of the testis size	1028	CDKN1C	ORPHA:436144
HP:0045058	Abnormality of the testis size	6492	SIM1	ORPHA:398079
HP:0045058	Abnormality of the testis size	140801	RPL10L	OMIM:619689
HP:0045058	Abnormality of the testis size	3952	LEP	ORPHA:66628
HP:0045058	Abnormality of the testis size	3952	LEP	OMIM:614962
HP:0045058	Abnormality of the testis size	3284	HSD3B2	ORPHA:90791
HP:0045058	Abnormality of the testis size	7298	TYMS	OMIM:620040
HP:0045058	Abnormality of the testis size	6638	SNRPN	ORPHA:177904
HP:0045058	Abnormality of the testis size	6638	SNRPN	ORPHA:177901
HP:0045058	Abnormality of the testis size	6638	SNRPN	ORPHA:98754
HP:0045058	Abnormality of the testis size	4692	NDN	ORPHA:177904
HP:0045058	Abnormality of the testis size	4692	NDN	ORPHA:177901
HP:0045058	Abnormality of the testis size	4692	NDN	ORPHA:98754
HP:0045058	Abnormality of the testis size	54551	MAGEL2	ORPHA:177904
HP:0045058	Abnormality of the testis size	54551	MAGEL2	ORPHA:177901
HP:0045058	Abnormality of the testis size	54551	MAGEL2	ORPHA:398069
HP:0045058	Abnormality of the testis size	54551	MAGEL2	ORPHA:98754
HP:0045058	Abnormality of the testis size	4948	OCA2	ORPHA:177904
HP:0045058	Abnormality of the testis size	4948	OCA2	ORPHA:177901
HP:0045058	Abnormality of the testis size	4948	OCA2	ORPHA:98754
HP:0045058	Abnormality of the testis size	51132	RLIM	OMIM:300978
HP:0045058	Abnormality of the testis size	57697	FANCM	OMIM:618086
HP:0045058	Abnormality of the testis size	57697	FANCM	ORPHA:399805
HP:0045058	Abnormality of the testis size	8260	NAA10	OMIM:300855
HP:0045058	Abnormality of the testis size	84100	ARL6	OMIM:209900
HP:0045058	Abnormality of the testis size	79140	CCDC28B	OMIM:209900
HP:0045058	Abnormality of the testis size	582	BBS1	OMIM:209900
HP:0045058	Abnormality of the testis size	79184	BRCC3	ORPHA:280679
HP:0045058	Abnormality of the testis size	284654	RSPO1	OMIM:610644
HP:0045058	Abnormality of the testis size	9820	CUL7	OMIM:273750
HP:0045058	Abnormality of the testis size	23116	TOGARAM1	OMIM:619185
HP:0045058	Abnormality of the testis size	1583	CYP11A1	ORPHA:289548
HP:0045058	Abnormality of the testis size	1583	CYP11A1	ORPHA:168558
HP:0045058	Abnormality of the testis size	55630	SLC39A4	OMIM:201100
HP:0045058	Abnormality of the testis size	23312	DMXL2	OMIM:616113
HP:0045058	Abnormality of the testis size	23312	DMXL2	ORPHA:453533
HP:0045058	Abnormality of the testis size	56154	TEX15	OMIM:617960
HP:0045058	Abnormality of the testis size	56154	TEX15	ORPHA:399805
HP:0045058	Abnormality of the testis size	6885	MAP3K7	OMIM:157800
HP:0045058	Abnormality of the testis size	9723	SEMA3E	OMIM:146110
HP:0045058	Abnormality of the testis size	558	AXL	OMIM:146110
HP:0045058	Abnormality of the testis size	10011	SRA1	OMIM:146110
HP:0045058	Abnormality of the testis size	285025	CCDC141	OMIM:146110
HP:0045058	Abnormality of the testis size	285025	CCDC141	ORPHA:478
HP:0045058	Abnormality of the testis size	389549	FEZF1	OMIM:146110
HP:0045058	Abnormality of the testis size	389549	FEZF1	OMIM:616030
HP:0045058	Abnormality of the testis size	389549	FEZF1	ORPHA:478
HP:0045058	Abnormality of the testis size	128637	TBC1D20	OMIM:615663
HP:0045058	Abnormality of the testis size	3953	LEPR	ORPHA:179494
HP:0045058	Abnormality of the testis size	6845	VAMP7	ORPHA:251510
HP:0045058	Abnormality of the testis size	51741	WWOX	ORPHA:251510
HP:0045058	Abnormality of the testis size	4214	MAP3K1	ORPHA:251510
HP:0045058	Abnormality of the testis size	7490	WT1	ORPHA:251510
HP:0045058	Abnormality of the testis size	58524	DMRT3	ORPHA:251510
HP:0045058	Abnormality of the testis size	57647	DHX37	ORPHA:251510
HP:0045058	Abnormality of the testis size	57647	DHX37	ORPHA:983
HP:0045058	Abnormality of the testis size	23414	ZFPM2	ORPHA:251510
HP:0045058	Abnormality of the testis size	2626	GATA4	ORPHA:251510
HP:0045058	Abnormality of the testis size	57187	THOC2	ORPHA:457240
HP:0045058	Abnormality of the testis size	340719	NANOS1	ORPHA:399808
HP:0045058	Abnormality of the testis size	340719	NANOS1	ORPHA:399805
HP:0045058	Abnormality of the testis size	7840	ALMS1	ORPHA:64
HP:0045058	Abnormality of the testis size	54809	SAMD9	OMIM:617053
HP:0045058	Abnormality of the testis size	7737	RNF113A	OMIM:300953
HP:0045058	Abnormality of the testis size	22931	RAB18	OMIM:614222
HP:0045058	Abnormality of the testis size	80067	DCAF17	ORPHA:3464
HP:0045058	Abnormality of the testis size	80067	DCAF17	OMIM:241080
HP:0045058	Abnormality of the testis size	5626	PROP1	ORPHA:95494
HP:0045058	Abnormality of the testis size	5626	PROP1	ORPHA:90695
HP:0045058	Abnormality of the testis size	2736	GLI2	ORPHA:95494
HP:0045058	Abnormality of the testis size	89884	LHX4	ORPHA:95494
HP:0045058	Abnormality of the testis size	3170	FOXA2	ORPHA:95494
HP:0045058	Abnormality of the testis size	5449	POU1F1	ORPHA:95494
HP:0045058	Abnormality of the testis size	8820	HESX1	ORPHA:95494
HP:0045058	Abnormality of the testis size	8820	HESX1	ORPHA:478
HP:0045058	Abnormality of the testis size	5015	OTX2	ORPHA:95494
HP:0045058	Abnormality of the testis size	11041	B4GAT1	OMIM:615287
HP:0045058	Abnormality of the testis size	26227	PHGDH	OMIM:601815
HP:0045058	Abnormality of the testis size	154197	PNLDC1	OMIM:619528
HP:0045058	Abnormality of the testis size	154197	PNLDC1	ORPHA:399805
HP:0045058	Abnormality of the testis size	57704	GBA2	ORPHA:320391
HP:0045058	Abnormality of the testis size	5422	POLA1	ORPHA:163976
HP:0045058	Abnormality of the testis size	6875	TAF4B	ORPHA:399805
HP:0045058	Abnormality of the testis size	56155	TEX14	ORPHA:399805
HP:0045058	Abnormality of the testis size	7516	XRCC2	ORPHA:399805
HP:0045058	Abnormality of the testis size	7516	XRCC2	OMIM:619145
HP:0045058	Abnormality of the testis size	254528	MEIOB	ORPHA:399805
HP:0045058	Abnormality of the testis size	91057	CCDC34	ORPHA:399805
HP:0045058	Abnormality of the testis size	402381	SOHLH1	ORPHA:399805
HP:0045058	Abnormality of the testis size	317719	KLHL10	ORPHA:399805
HP:0045058	Abnormality of the testis size	56159	TEX11	ORPHA:399805
HP:0045058	Abnormality of the testis size	1080	CFTR	ORPHA:399805
HP:0045058	Abnormality of the testis size	84225	ZMYND15	ORPHA:399805
HP:0045058	Abnormality of the testis size	122402	TDRD9	ORPHA:399805
HP:0045058	Abnormality of the testis size	93426	SYCE1	ORPHA:399805
HP:0045058	Abnormality of the testis size	50511	SYCP3	ORPHA:399805
HP:0045058	Abnormality of the testis size	5373	PMM2	ORPHA:79318
HP:0045058	Abnormality of the testis size	8242	KDM5C	OMIM:300534
HP:0045058	Abnormality of the testis size	8242	KDM5C	ORPHA:85279
HP:0045058	Abnormality of the testis size	51360	MBTPS2	ORPHA:85284
HP:0045058	Abnormality of the testis size	546	ATRX	OMIM:309580
HP:0045058	Abnormality of the testis size	23133	PHF8	ORPHA:85287
HP:0045058	Abnormality of the testis size	3339	HSPG2	OMIM:255800
HP:0045058	Abnormality of the testis size	3339	HSPG2	ORPHA:800
HP:0045058	Abnormality of the testis size	84295	PHF6	ORPHA:127
HP:0045058	Abnormality of the testis size	26123	TCTN3	ORPHA:2753
HP:0045058	Abnormality of the testis size	3730	ANOS1	OMIM:308700
HP:0045058	Abnormality of the testis size	3730	ANOS1	ORPHA:478
HP:0045058	Abnormality of the testis size	55315	SLC29A3	ORPHA:168569
HP:0045058	Abnormality of the testis size	10371	SEMA3A	OMIM:614897
HP:0045058	Abnormality of the testis size	10371	SEMA3A	ORPHA:478
HP:0045058	Abnormality of the testis size	63901	FAM111A	ORPHA:93325
HP:0045058	Abnormality of the testis size	23767	FLRT3	ORPHA:478
HP:0045058	Abnormality of the testis size	79625	NDNF	ORPHA:478
HP:0045058	Abnormality of the testis size	1630	DCC	ORPHA:478
HP:0045058	Abnormality of the testis size	54756	IL17RD	ORPHA:478
HP:0045058	Abnormality of the testis size	6663	SOX10	ORPHA:478
HP:0045058	Abnormality of the testis size	2068	ERCC2	ORPHA:910
HP:0045058	Abnormality of the testis size	7507	XPA	ORPHA:910
HP:0045058	Abnormality of the testis size	2071	ERCC3	ORPHA:910
HP:0045058	Abnormality of the testis size	7508	XPC	ORPHA:910
HP:0045058	Abnormality of the testis size	1643	DDB2	ORPHA:910
HP:0045058	Abnormality of the testis size	2072	ERCC4	ORPHA:910
HP:0045058	Abnormality of the testis size	2073	ERCC5	ORPHA:910
HP:0045058	Abnormality of the testis size	7486	WRN	ORPHA:902
HP:0045058	Abnormality of the testis size	672	BRCA1	ORPHA:84
HP:0045058	Abnormality of the testis size	10459	MAD2L2	ORPHA:84
HP:0045058	Abnormality of the testis size	29089	UBE2T	ORPHA:84
HP:0045058	Abnormality of the testis size	675	BRCA2	ORPHA:84
HP:0045058	Abnormality of the testis size	55120	FANCL	ORPHA:84
HP:0045058	Abnormality of the testis size	2177	FANCD2	ORPHA:84
HP:0045058	Abnormality of the testis size	2175	FANCA	ORPHA:84
HP:0045058	Abnormality of the testis size	2187	FANCB	ORPHA:84
HP:0045058	Abnormality of the testis size	2176	FANCC	ORPHA:84
HP:0045058	Abnormality of the testis size	2178	FANCE	ORPHA:84
HP:0045058	Abnormality of the testis size	2188	FANCF	ORPHA:84
HP:0045058	Abnormality of the testis size	2189	FANCG	ORPHA:84
HP:0045058	Abnormality of the testis size	5888	RAD51	ORPHA:84
HP:0045058	Abnormality of the testis size	5889	RAD51C	ORPHA:84
HP:0045058	Abnormality of the testis size	55159	RFWD3	ORPHA:84
HP:0045058	Abnormality of the testis size	83990	BRIP1	ORPHA:84
HP:0045058	Abnormality of the testis size	79728	PALB2	ORPHA:84
HP:0045058	Abnormality of the testis size	84464	SLX4	ORPHA:84
HP:0045058	Abnormality of the testis size	55215	FANCI	ORPHA:84
HP:0045058	Abnormality of the testis size	392255	GDF6	OMIM:613094
HP:0045059	Hyperkeratotic papule	10804	GJB6	ORPHA:189
HP:0045059	Hyperkeratotic papule	3848	KRT1	OMIM:146590
HP:0045059	Hyperkeratotic papule	23509	POFUT1	OMIM:615327
HP:0045059	Hyperkeratotic papule	23509	POFUT1	ORPHA:79145
HP:0045059	Hyperkeratotic papule	3852	KRT5	ORPHA:79397
HP:0045059	Hyperkeratotic papule	3852	KRT5	ORPHA:79145
HP:0045059	Hyperkeratotic papule	3861	KRT14	ORPHA:79397
HP:0045059	Hyperkeratotic papule	4035	LRP1	ORPHA:79100
HP:0045059	Hyperkeratotic papule	56983	POGLUT1	ORPHA:79145
HP:0045059	Hyperkeratotic papule	55851	PSENEN	ORPHA:79145
HP:0045059	Hyperkeratotic papule	1294	COL7A1	ORPHA:79410
HP:0045059	Hyperkeratotic papule	2706	GJB2	ORPHA:2698
HP:0045059	Hyperkeratotic papule	7373	COL14A1	ORPHA:79501
HP:0045059	Hyperkeratotic papule	79719	AAGAB	ORPHA:79501
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	157570	ESCO2	OMIM:268300
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9401	RECQL4	ORPHA:1225
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25836	NIPBL	OMIM:122470
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6154	RPL26	OMIM:614900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1311	COMP	OMIM:177170
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54808	DYM	OMIM:223800
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3835	KIF22	OMIM:603546
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9451	EIF2AK3	OMIM:226980
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23233	EXOC6B	OMIM:618395
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54187	NANS	OMIM:610442
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79158	GNPTAB	OMIM:252600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79158	GNPTAB	OMIM:252500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5832	ALDH18A1	OMIM:601162
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23111	SPART	OMIM:275900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26235	FBXL4	OMIM:615471
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5648	MASP1	OMIM:257920
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23314	SATB2	ORPHA:251028
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23314	SATB2	ORPHA:576283
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6792	CDKL5	ORPHA:3095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6792	CDKL5	OMIM:300672
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	22854	NTNG1	ORPHA:3095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9568	GABBR2	ORPHA:3095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9568	GABBR2	OMIM:617903
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4204	MECP2	ORPHA:3095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4204	MECP2	OMIM:300260
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4204	MECP2	OMIM:312750
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1062	CENPE	OMIM:616051
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6492	SIM1	ORPHA:398079
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9382	COG1	OMIM:611209
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6638	SNRPN	ORPHA:177904
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6638	SNRPN	ORPHA:177901
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6638	SNRPN	ORPHA:177910
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6638	SNRPN	ORPHA:177907
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6638	SNRPN	ORPHA:98754
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4692	NDN	ORPHA:177904
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4692	NDN	ORPHA:177901
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4692	NDN	ORPHA:177910
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4692	NDN	ORPHA:98754
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4948	OCA2	ORPHA:177904
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4948	OCA2	ORPHA:177901
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4948	OCA2	ORPHA:98754
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2590	GALNT2	OMIM:618885
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	80204	FBXO11	OMIM:618089
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3064	HTT	OMIM:617435
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10381	TUBB3	ORPHA:300570
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84100	ARL6	OMIM:209900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79140	CCDC28B	OMIM:209900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	582	BBS1	OMIM:209900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6045	RNF2	OMIM:619460
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7319	UBE2A	OMIM:300860
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7319	UBE2A	ORPHA:163956
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10087	CERT1	OMIM:616351
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6304	SATB1	OMIM:619229
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26160	IFT172	ORPHA:474
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79809	TTC21B	ORPHA:474
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55768	NGLY1	OMIM:615273
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7874	USP7	ORPHA:500055
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8493	PPM1D	OMIM:617450
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57003	CCDC47	OMIM:618268
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8239	USP9X	ORPHA:480880
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8239	USP9X	OMIM:300968
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9894	TELO2	ORPHA:488642
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8364	H4C3	OMIM:619758
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5590	PRKCZ	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2563	GABRD	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23013	SPEN	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8510	MMP23B	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7798	LUZP1	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6497	SKI	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10630	PDPN	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3339	HSPG2	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10277	UBE4B	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8514	KCNAB2	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	473	RERE	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	63976	PRDM16	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54897	CASZ1	ORPHA:1606
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55343	SLC35C1	OMIM:266265
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3800	KIF5C	OMIM:615282
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81887	LAS1L	ORPHA:3459
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81887	LAS1L	OMIM:309585
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23162	MAPK8IP3	OMIM:618443
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2332	FMR1	ORPHA:261483
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9130	FAM50A	OMIM:300261
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1513	CTSK	ORPHA:763
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8295	TRRAP	OMIM:618454
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3762	KCNJ5	ORPHA:37553
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1281	COL3A1	ORPHA:2500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10075	HUWE1	OMIM:309590
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	242	ALOX12B	OMIM:242100
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	59344	ALOXE3	OMIM:242100
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5573	PRKAR1A	ORPHA:950
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5573	PRKAR1A	ORPHA:280651
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5144	PDE4D	ORPHA:950
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5144	PDE4D	ORPHA:280651
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5144	PDE4D	ORPHA:439822
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7840	ALMS1	ORPHA:64
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4882	NPR2	OMIM:602875
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	145173	B3GLCT	OMIM:261540
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	145173	B3GLCT	ORPHA:709
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5593	PRKG2	OMIM:619636
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	100151683	RNU4ATAC	ORPHA:353298
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	100151683	RNU4ATAC	OMIM:616651
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6023	RMRP	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6023	RMRP	OMIM:607095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3981	LIG4	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5896	RAG1	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5897	RAG2	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64421	DCLRE1C	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	100	ADA	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3575	IL7R	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3561	IL2RG	ORPHA:39041
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1788	DNMT3A	ORPHA:404443
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2261	FGFR3	ORPHA:429
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6473	SHOX	OMIM:127300
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1859	DYRK1A	ORPHA:464311
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55027	HEATR3	OMIM:620072
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79718	TBL1XR1	OMIM:602342
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79718	TBL1XR1	ORPHA:487825
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2316	FLNA	OMIM:300244
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4089	SMAD4	OMIM:139210
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54928	BPNT2	OMIM:614078
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23426	GRIP1	OMIM:617667
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25782	RAB3GAP2	OMIM:212720
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23384	SPECC1L	ORPHA:1519
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4297	KMT2A	OMIM:605130
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55650	PIGV	OMIM:239300
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	427	ASAH1	ORPHA:333
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2239	GPC4	ORPHA:373
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2719	GPC3	ORPHA:373
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3039	HBA1	ORPHA:98791
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3040	HBA2	ORPHA:98791
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84295	PHF6	OMIM:301900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84295	PHF6	ORPHA:127
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23483	TGDS	OMIM:616145
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	650	BMP2	OMIM:617877
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8481	OFD1	ORPHA:2750
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55764	IFT122	OMIM:218330
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	50945	TBX22	ORPHA:921
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5745	PTH1R	ORPHA:79106
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	171023	ASXL1	OMIM:605039
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55697	VAC14	ORPHA:3472
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9509	ADAMTS2	OMIM:225410
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	375056	MIA3	OMIM:619269
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57178	ZMIZ1	OMIM:618659
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2697	GJA1	ORPHA:93404
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4853	NOTCH2	ORPHA:955
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2313	FLI1	ORPHA:2308
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2778	GNAS	OMIM:103580
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2690	GHR	ORPHA:633
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2879	GPX4	OMIM:250220
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64840	PORCN	OMIM:305600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7480	WNT10B	OMIM:225300
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10262	SF3B4	OMIM:154400
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7476	WNT7A	OMIM:228930
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7476	WNT7A	ORPHA:2879
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7476	WNT7A	OMIM:276820
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54567	DLL4	OMIM:616589
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64093	SMOC1	OMIM:206920
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64093	SMOC1	ORPHA:1106
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1749	DLX5	OMIM:183600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4038	LRP4	ORPHA:3258
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	324	APC	ORPHA:3258
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2737	GLI3	ORPHA:93322
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	59341	TRPV4	OMIM:606835
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5281	PIGF	OMIM:619356
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9241	NOG	ORPHA:140908
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	415	ARSL	ORPHA:79345
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3756	KCNH1	OMIM:135500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	113246	C12orf57	OMIM:218340
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8626	TP63	OMIM:605289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	28981	IFT81	OMIM:617895
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	92002	CCNQ	ORPHA:140952
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9820	CUL7	ORPHA:2616
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23363	OBSL1	ORPHA:2616
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	83987	CCDC8	ORPHA:2616
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	567	B2M	OMIM:241600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	139285	AMER1	OMIM:300373
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3899	AFF3	OMIM:619297
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23169	SLC35D1	ORPHA:3144
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	27125	AFF4	ORPHA:444077
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4233	MET	OMIM:607278
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10804	GJB6	ORPHA:477
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2706	GJB2	ORPHA:477
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4010	LMX1B	ORPHA:2614
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4010	LMX1B	OMIM:161200
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4010	LMX1B	ORPHA:495818
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55148	UBR7	OMIM:619189
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6812	STXBP1	ORPHA:495818
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9949	AMMECR1	OMIM:300990
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10588	MTHFS	OMIM:618367
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	65250	CPLANE1	OMIM:277170
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55503	TRPV6	OMIM:618188
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	815	CAMK2A	OMIM:617798
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9496	TBX4	OMIM:147891
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	11128	POLR3A	OMIM:264090
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	11128	POLR3A	ORPHA:3455
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6913	TBX15	ORPHA:93333
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	22827	PUF60	ORPHA:508488
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8540	AGPS	OMIM:600121
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8802	SUCLG1	ORPHA:17
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	202018	TAPT1	OMIM:616897
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8792	TNFRSF11A	OMIM:602080
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	871	SERPINH1	OMIM:613848
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1301	COL11A1	ORPHA:440354
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2263	FGFR2	OMIM:101600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7547	ZIC3	OMIM:314390
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8517	IKBKG	ORPHA:464
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1750	DLX6	ORPHA:2440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7979	SEM1	ORPHA:2440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8945	BTRC	ORPHA:2440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	58513	EPS15L1	ORPHA:2440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6468	FBXW4	ORPHA:2440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7021	TFAP2B	ORPHA:46627
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3481	IGF2	OMIM:180860
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51199	NIN	ORPHA:319675
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51199	NIN	OMIM:614851
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2783	GNB2	OMIM:619503
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5932	RBBP8	OMIM:251255
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3480	IGF1R	ORPHA:73273
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2245	FGD1	OMIM:305400
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2245	FGD1	ORPHA:915
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	124997	WDR81	OMIM:610185
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	118429	ANTXR2	ORPHA:2176
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7681	MKRN3	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3653	IPW	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54551	MAGEL2	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	791114	PWRN1	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	100033413	SNORD116-1	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8924	HERC2	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	145624	PWAR1	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23742	NPAP1	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	338433	SNORD115-1	OMIM:176270
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55112	DYNC2I1	ORPHA:93271
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	89891	DYNC2I2	ORPHA:93271
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23030	KDM4B	OMIM:619320
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79639	TMEM53	OMIM:619727
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55249	YY1AP1	ORPHA:79094
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10982	MAPRE2	OMIM:616734
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	818	CAMK2G	OMIM:618522
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1778	DYNC1H1	OMIM:614563
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	222663	SCUBE3	OMIM:619184
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	80311	KLHL15	OMIM:300982
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10943	MSL3	OMIM:301032
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55012	PPP2R3C	OMIM:618419
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51763	INPP5K	ORPHA:559
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9244	CRLF1	OMIM:272430
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2254	FGF9	ORPHA:3237
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6905	TBCE	OMIM:241410
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6905	TBCE	OMIM:244460
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1857	DVL3	ORPHA:3107
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7474	WNT5A	ORPHA:3107
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7474	WNT5A	OMIM:180700
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9791	PTDSS1	ORPHA:2658
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10013	HDAC6	ORPHA:163966
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79753	SNIP1	OMIM:614501
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4796	TONSL	ORPHA:93357
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10236	HNRNPR	OMIM:620073
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1298	COL9A2	OMIM:600204
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	285590	SH3PXD2B	OMIM:249420
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23522	KAT6B	ORPHA:85201
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3845	KRAS	ORPHA:3339
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	28957	MRPS28	OMIM:618958
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23261	CAMTA1	OMIM:614756
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8450	CUL4B	ORPHA:85293
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5295	PIK3R1	ORPHA:3163
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8813	DPM1	OMIM:608799
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10743	RAI1	OMIM:182290
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51322	WAC	ORPHA:466950
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	147372	CCBE1	OMIM:235510
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29123	ANKRD11	OMIM:148050
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3094	HINT1	ORPHA:324442
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9759	HDAC4	OMIM:600430
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9578	CDC42BPB	OMIM:619841
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5191	PEX7	OMIM:266500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5264	PHYH	OMIM:266500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	94005	PIGS	OMIM:618143
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	341208	HEPHL1	OMIM:261990
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	89970	RSPRY1	ORPHA:457395
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	89970	RSPRY1	OMIM:616723
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54585	LZTFL1	OMIM:615994
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55628	ZNF407	OMIM:619557
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2146	EZH2	OMIM:277590
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79633	FAT4	OMIM:615546
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8642	DCHS1	OMIM:601390
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54496	PRMT7	ORPHA:464288
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6925	TCF4	OMIM:610954
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23288	IQCE	OMIM:617642
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2535	FZD2	OMIM:164745
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	91179	SCARF2	OMIM:600920
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6662	SOX9	OMIM:114290
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	374969	SVBP	OMIM:618569
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1327	COX4I1	OMIM:619060
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8936	WASF1	OMIM:618707
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4920	ROR2	OMIM:268310
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	153241	CEP120	OMIM:616300
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10082	GPC6	OMIM:258315
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7355	SLC35A2	ORPHA:356961
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79087	ALG12	OMIM:607143
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2317	FLNB	ORPHA:56305
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3977	LIFR	OMIM:601559
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9775	EIF4A3	OMIM:268305
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	388015	RTL1	ORPHA:96334
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8788	DLK1	ORPHA:96334
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55384	MEG3	ORPHA:96334
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4750	NEK1	OMIM:263520
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	727857	BHLHA9	ORPHA:3329
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	727857	BHLHA9	ORPHA:1986
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57688	ZSWIM6	ORPHA:1827
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64327	LMBR1	ORPHA:988
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6469	SHH	ORPHA:988
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26123	TCTN3	ORPHA:2753
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6628	SNRPB	OMIM:117650
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9851	KIAA0753	OMIM:619479
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	145258	GSC	OMIM:602471
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4982	TNFRSF11B	OMIM:239000
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8443	GNPAT	OMIM:222765
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5830	PEX5	OMIM:616716
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55777	MBD5	OMIM:156200
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5422	POLA1	OMIM:301030
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	652	BMP4	OMIM:607932
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8085	KMT2D	ORPHA:2322
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7403	KDM6A	ORPHA:2322
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51053	GMNN	OMIM:616835
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	22995	CEP152	OMIM:613823
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84992	PIGY	ORPHA:247262
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84992	PIGY	OMIM:616809
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84720	PIGO	ORPHA:247262
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84720	PIGO	OMIM:614749
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	93210	PGAP3	ORPHA:247262
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	93210	PGAP3	OMIM:615716
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	284098	PIGW	ORPHA:247262
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	27315	PGAP2	ORPHA:247262
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	27315	PGAP2	OMIM:614207
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57020	VPS35L	OMIM:619135
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2972	BRF1	OMIM:616202
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29929	ALG6	ORPHA:79320
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9719	ADAMTSL2	OMIM:231050
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3549	IHH	OMIM:112500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23556	PIGN	ORPHA:280633
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	219844	HYLS1	OMIM:236680
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2131	EXT1	ORPHA:321
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2132	EXT2	ORPHA:321
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	249	ALPL	OMIM:241500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2335	FN1	ORPHA:93315
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23394	ADNP	OMIM:615873
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5479	PPIB	OMIM:259440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3911	LAMA5	OMIM:620076
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2767	GNA11	ORPHA:1556
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	151188	ARL6IP6	ORPHA:1556
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8241	RBM10	ORPHA:2886
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	545	ATR	OMIM:210600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1146	CHRNG	OMIM:265000
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81620	CDT1	ORPHA:2554
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81620	CDT1	OMIM:613804
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5000	ORC4	ORPHA:2554
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5000	ORC4	OMIM:613800
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	990	CDC6	ORPHA:2554
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	990	CDC6	OMIM:613805
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8318	CDC45	OMIM:617063
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4998	ORC1	OMIM:224690
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23594	ORC6	OMIM:613803
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5980	REV3L	ORPHA:570
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23129	PLXND1	ORPHA:570
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4318	MMP9	ORPHA:1040
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4322	MMP13	ORPHA:1040
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6910	TBX5	ORPHA:392
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7140	TNNT3	ORPHA:1147
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4621	MYH3	ORPHA:1147
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7169	TPM2	ORPHA:1147
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	259232	NALCN	ORPHA:1147
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7136	TNNI2	ORPHA:1147
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	672	BRCA1	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10459	MAD2L2	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7516	XRCC2	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29089	UBE2T	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	675	BRCA2	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55120	FANCL	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2177	FANCD2	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2175	FANCA	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2187	FANCB	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2176	FANCC	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2178	FANCE	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2188	FANCF	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2189	FANCG	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5888	RAD51	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5889	RAD51C	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55159	RFWD3	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	83990	BRIP1	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57697	FANCM	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79728	PALB2	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84464	SLX4	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2072	ERCC4	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55215	FANCI	ORPHA:84
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7040	TGFB1	ORPHA:1328
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	60681	FKBP10	ORPHA:1149
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2260	FGFR1	ORPHA:2117
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9555	MACROH2A1	ORPHA:1275
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5307	PITX1	ORPHA:1275
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57167	SALL4	ORPHA:959
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1717	DHCR7	ORPHA:818
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	538	ATP7A	ORPHA:198
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9939	RBM8A	ORPHA:3320
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9939	RBM8A	OMIM:274000
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9896	FIG4	OMIM:216340
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3459	IFNGR1	OMIM:209950
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1836	SLC26A2	OMIM:226900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3425	IDUA	OMIM:607014
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10940	POP1	OMIM:617396
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26146	TRAF3IP1	OMIM:616629
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	56992	KIF15	ORPHA:261323
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6598	SMARCB1	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6659	SOX4	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5977	DPF2	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6601	SMARCC2	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6602	SMARCD1	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	196528	ARID2	ORPHA:1465
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5879	RAC1	ORPHA:500159
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4848	CNOT2	OMIM:618608
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1028	CDKN1C	ORPHA:397590
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5324	PLAG1	ORPHA:397590
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8091	HMGA2	ORPHA:397590
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2122	MECOM	OMIM:616738
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8820	HESX1	OMIM:182230
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8820	HESX1	ORPHA:226307
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26154	ABCA12	OMIM:242500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9131	AIFM1	OMIM:300232
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6134	RPL10	OMIM:300998
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6134	RPL10	ORPHA:459070
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5626	PROP1	ORPHA:226307
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	89884	LHX4	ORPHA:226307
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8022	LHX3	ORPHA:226307
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5449	POU1F1	ORPHA:226307
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	444	ASPH	OMIM:601552
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	164	AP1G1	OMIM:619467
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1144	CHRND	OMIM:253290
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1134	CHRNA1	OMIM:253290
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3736	KCNA1	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9091	PIGQ	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2775	GNAO1	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81603	TRIM8	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2902	GRIN1	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79751	SLC25A22	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	150094	SIK1	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8573	CASK	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23312	DMXL2	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2917	GRM7	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	170302	ARX	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	11284	PNKP	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6326	SCN2A	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51227	PIGP	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6324	SCN1B	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4761	NEUROD2	ORPHA:1934
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2019	EN1	OMIM:619218
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6926	TBX3	OMIM:181450
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8200	GDF5	OMIM:113100
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4212	MEIS2	OMIM:600987
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10265	IRX5	OMIM:611174
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79659	DYNC2H1	OMIM:613091
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55636	CHD7	OMIM:214800
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1280	COL2A1	OMIM:271700
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	50814	NSDHL	OMIM:308050
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9742	IFT140	OMIM:266920
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3239	HOXD13	ORPHA:93409
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4613	MYCN	ORPHA:391641
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10847	SRCAP	OMIM:136140
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	860	RUNX2	OMIM:119600
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	860	RUNX2	OMIM:156510
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	27152	INTU	OMIM:617926
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9935	MAFB	ORPHA:233
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1123	CHN1	ORPHA:233
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54888	NSUN2	ORPHA:235
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5925	RB1	ORPHA:1587
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	80144	FRAS1	OMIM:219000
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6885	MAP3K7	ORPHA:1826
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5293	PIK3CD	ORPHA:221139
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	90417	KNSTRN	ORPHA:221139
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5727	PTCH1	OMIM:109400
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7204	TRIO	ORPHA:476126
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6651	SON	ORPHA:500150
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	340419	RSPO2	OMIM:618022
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8452	CUL3	OMIM:619239
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5718	PSMD12	OMIM:617516
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6223	RPS19	OMIM:105650
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6223	RPS19	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6135	RPL11	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6138	RPL15	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6229	RPS24	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6125	RPL5	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6204	RPS10	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6224	RPS20	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6165	RPL35A	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2623	GATA1	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6232	RPS27	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6231	RPS26	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	11224	RPL35	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6160	RPL31	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6218	RPS17	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6201	RPS7	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6155	RPL27	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6210	RPS15A	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	90121	TSR2	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6141	RPL18	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6235	RPS29	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6234	RPS28	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51816	ADA2	ORPHA:124
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54101	RIPK4	OMIM:263650
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54101	RIPK4	ORPHA:1234
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2255	FGF10	ORPHA:2363
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29980	DONSON	OMIM:251230
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23028	KDM1A	OMIM:616728
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23028	KDM1A	ORPHA:477993
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29998	BICRA	OMIM:619325
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1723	DHODH	OMIM:263750
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	526	ATP6V1B2	ORPHA:79499
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	176	ACAN	ORPHA:435804
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	176	ACAN	OMIM:165800
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54880	BCOR	ORPHA:2712
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3209	HOXA13	ORPHA:2438
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3209	HOXA13	OMIM:176305
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7020	TFAP2A	OMIM:113620
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10815	CPLX1	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10815	CPLX1	OMIM:194190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54872	PIGG	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7469	NELFA	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1487	CTBP1	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1487	CTBP1	OMIM:194190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3954	LETM1	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3954	LETM1	OMIM:194190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7468	NSD2	ORPHA:280
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7468	NSD2	OMIM:194190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25942	SIN3A	OMIM:613406
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	53834	FGFRL1	OMIM:194190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1387	CREBBP	OMIM:180849
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2033	EP300	OMIM:180849
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	91461	PKDCC	OMIM:618821
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	80036	TRPM3	OMIM:620224
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	374879	ZNF699	OMIM:619488
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7750	ZMYM2	OMIM:619522
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	407975	MIR17HG	ORPHA:391646
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	50515	CHST11	OMIM:618167
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4256	MGP	OMIM:245150
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9968	MED12	OMIM:300895
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84823	LMNB2	OMIM:616540
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2200	FBN1	ORPHA:3449
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4053	LTBP2	ORPHA:3449
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	81794	ADAMTS10	ORPHA:3449
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26100	WIPI2	OMIM:618453
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1147	CHUK	OMIM:613630
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9060	PAPSS2	OMIM:612847
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1009	CDH11	ORPHA:1299
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2186	BPTF	ORPHA:529962
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51604	PIGT	ORPHA:369837
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9488	PIGB	OMIM:618580
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10617	STAMBP	OMIM:614261
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51412	ACTL6B	OMIM:618470
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57465	TBC1D24	OMIM:220500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57465	TBC1D24	ORPHA:79500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	613	BCR	ORPHA:261330
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1399	CRKL	ORPHA:261330
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5594	MAPK1	ORPHA:261330
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1855	DVL1	OMIM:616331
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55784	MCTP2	ORPHA:1596
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4000	LMNA	OMIM:248370
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4000	LMNA	ORPHA:90153
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3764	KCNJ8	ORPHA:1517
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10060	ABCC9	ORPHA:1517
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10651	MTX2	ORPHA:90153
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57539	WDR35	ORPHA:1515
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57539	WDR35	OMIM:614091
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	112752	IFT43	ORPHA:1515
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57728	WDR19	ORPHA:1515
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57728	WDR19	OMIM:614378
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10269	ZMPSTE24	ORPHA:90154
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29957	SLC25A24	ORPHA:2963
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29957	SLC25A24	ORPHA:2095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	29957	SLC25A24	OMIM:612289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4784	NFIX	OMIM:602535
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	24140	FTSJ1	OMIM:309549
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9469	CHST3	OMIM:143095
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64359	NXN	ORPHA:1507
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8289	ARID1A	OMIM:614607
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5566	PRKACA	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5567	PRKACB	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2735	GLI1	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2121	EVC	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51626	DYNC2LI1	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	132884	EVC2	ORPHA:289
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2475	MTOR	OMIM:616638
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5116	PCNT	OMIM:210720
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9419	CRIPT	OMIM:615789
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26040	SETBP1	OMIM:269150
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26040	SETBP1	ORPHA:798
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	54	ACP5	ORPHA:1855
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6197	RPS6KA3	ORPHA:192
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1300	COL10A1	OMIM:156500
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2677	GGCX	OMIM:277450
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10283	CWC27	OMIM:250410
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26137	ZBTB20	OMIM:259050
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	60401	EDA2R	ORPHA:181
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1896	EDA	ORPHA:181
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5159	PDGFRB	OMIM:601812
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	28952	CCDC22	OMIM:300963
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	182	JAG1	OMIM:118450
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7291	TWIST1	OMIM:617746
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6605	SMARCE1	OMIM:616938
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8242	KDM5C	OMIM:300534
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1186	CLCN7	ORPHA:53
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2702	GJA5	OMIM:612474
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2703	GJA8	OMIM:612474
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6664	SOX11	OMIM:615866
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55081	IFT57	OMIM:617927
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	865	CBFB	OMIM:620099
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23476	BRD4	ORPHA:199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9126	SMC3	ORPHA:199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8243	SMC1A	ORPHA:199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55869	HDAC8	ORPHA:199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5885	RAD21	ORPHA:199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26224	FBXL3	OMIM:606220
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55612	FERMT1	ORPHA:2908
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8823	FGF16	OMIM:309630
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2137	EXTL3	ORPHA:508533
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9361	LONP1	OMIM:600373
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9361	LONP1	ORPHA:1458
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4921	DDR2	OMIM:271665
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55733	HHAT	OMIM:600092
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55733	HHAT	ORPHA:1422
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5447	POR	ORPHA:95699
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	114803	MYSM1	ORPHA:508542
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	149775	GNAS-AS1	OMIM:603233
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8675	STX16	OMIM:603233
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	117581	TWIST2	OMIM:200110
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10225	CD96	OMIM:211750
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64175	P3H1	OMIM:610915
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64131	XYLT1	OMIM:615777
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4054	LTBP3	ORPHA:969
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5139	PDE3A	OMIM:112410
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5139	PDE3A	ORPHA:1276
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	633	BGN	OMIM:300106
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4810	NHS	ORPHA:627
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3636	INPPL1	OMIM:258480
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9321	TRIP11	OMIM:184260
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5130	PCYT1A	ORPHA:85167
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5130	PCYT1A	OMIM:608940
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1299	COL9A3	OMIM:600969
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4148	MATN3	OMIM:607078
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	126792	B3GALT6	OMIM:271640
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55252	ASXL2	OMIM:617190
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3930	LBR	OMIM:215140
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1302	COL11A2	ORPHA:1427
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	91252	SLC39A13	OMIM:612350
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57560	IFT80	OMIM:611263
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25871	NEPRO	OMIM:618853
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64682	ANAPC1	ORPHA:221008
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	90	ACVR1	ORPHA:337
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7994	KAT6A	OMIM:616268
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9487	PIGL	ORPHA:3474
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51715	RAB23	OMIM:201000
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1954	MEGF8	OMIM:614976
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6299	SALL1	OMIM:107480
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6299	SALL1	ORPHA:857
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51339	DACT1	ORPHA:857
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51776	MAP3K20	ORPHA:488232
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	64374	SIL1	OMIM:248800
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25839	COG4	OMIM:618150
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5744	PTHLH	OMIM:613382
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5744	PTHLH	ORPHA:93387
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	51098	IFT52	OMIM:617102
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	124583	CANT1	OMIM:251450
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3759	KCNJ2	OMIM:170390
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	22856	CHSY1	OMIM:605282
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	157680	VPS13B	OMIM:216550
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6595	SMARCA2	OMIM:601358
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	83452	RAB33B	OMIM:615222
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6736	SRY	ORPHA:1772
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7227	TRPS1	OMIM:190350
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7227	TRPS1	OMIM:190351
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7227	TRPS1	ORPHA:77258
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	25886	POC1A	OMIM:614813
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79971	WLS	OMIM:619648
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3516	RBPJ	OMIM:614814
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3516	RBPJ	ORPHA:974
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4851	NOTCH1	ORPHA:974
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57514	ARHGAP31	ORPHA:974
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57572	DOCK6	ORPHA:974
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	137814	NKX2-6	ORPHA:3384
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6597	SMARCA4	OMIM:614609
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3782	KCNN3	OMIM:618658
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	285203	EOGT	OMIM:615297
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	658	BMPR1B	ORPHA:2098
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57492	ARID1B	OMIM:135900
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6399	TRAPPC2	ORPHA:93284
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6399	TRAPPC2	OMIM:313400
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	65992	DDRGK1	OMIM:602557
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	755	CFAP410	OMIM:602271
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	91147	TMEM67	OMIM:602152
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8720	MBTPS1	OMIM:618392
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8838	CCN6	ORPHA:1159
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10216	PRG4	ORPHA:2848
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	84068	SLC10A7	OMIM:618363
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5286	PIK3C2A	OMIM:618440
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1108	CHD4	OMIM:617159
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	80169	CTC1	OMIM:612199
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	26128	KIFBP	OMIM:609460
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9698	PUM1	OMIM:617931
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	781	CACNA2D1	OMIM:620149
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	123263	MTFMT	OMIM:614947
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	79868	ALG13	OMIM:300884
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3248	HPGD	ORPHA:2796
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6578	SLCO2A1	ORPHA:2796
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7703	PCGF2	OMIM:618371
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1501	CTNND2	ORPHA:281
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9037	SEMA5A	ORPHA:281
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8558	CDK10	OMIM:617694
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	285175	UNC80	ORPHA:371364
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7486	WRN	ORPHA:902
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	4849	CNOT3	OMIM:618672
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	388662	SLC6A17	OMIM:616269
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23219	FBXO28	OMIM:619777
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5557	PRIM1	OMIM:620005
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	55790	CSGALNACT1	ORPHA:1425
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	406932	MIR140	OMIM:618618
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1801	DPH1	ORPHA:459061
HP:0045061	Decreased carnitine level in liver	6584	SLC22A5	OMIM:212140
HP:0005403	T lymphocytopenia	100	ADA	ORPHA:277
HP:0005403	T lymphocytopenia	2137	EXTL3	ORPHA:508533
HP:0005403	T lymphocytopenia	1789	DNMT3B	OMIM:242860
HP:0005403	T lymphocytopenia	6772	STAT1	ORPHA:391487
HP:0005403	T lymphocytopenia	10043	TOM1	ORPHA:391487
HP:0005403	T lymphocytopenia	10043	TOM1	OMIM:619510
HP:0005403	T lymphocytopenia	695	BTK	OMIM:300755
HP:0005403	T lymphocytopenia	6909	TBX2	OMIM:618223
HP:0005403	T lymphocytopenia	55388	MCM10	OMIM:619313
HP:0005403	T lymphocytopenia	8456	FOXN1	OMIM:601705
HP:0005403	T lymphocytopenia	8456	FOXN1	OMIM:618806
HP:0005403	T lymphocytopenia	8456	FOXN1	ORPHA:169095
HP:0005403	T lymphocytopenia	4683	NBN	OMIM:251260
HP:0005403	T lymphocytopenia	3574	IL7	OMIM:618309
HP:0005403	T lymphocytopenia	5238	PGM3	ORPHA:443811
HP:0005403	T lymphocytopenia	5880	RAC2	OMIM:618986
HP:0005403	T lymphocytopenia	5293	PIK3CD	OMIM:615513
HP:0005403	T lymphocytopenia	8737	RIPK1	OMIM:618108
HP:0005403	T lymphocytopenia	3575	IL7R	OMIM:608971
HP:0005403	T lymphocytopenia	3575	IL7R	ORPHA:169154
HP:0005403	T lymphocytopenia	9094	UNC119	OMIM:615518
HP:0005403	T lymphocytopenia	5896	RAG1	OMIM:601457
HP:0005403	T lymphocytopenia	5896	RAG1	ORPHA:231154
HP:0005403	T lymphocytopenia	5896	RAG1	OMIM:233650
HP:0005403	T lymphocytopenia	5897	RAG2	OMIM:601457
HP:0005403	T lymphocytopenia	5897	RAG2	OMIM:233650
HP:0005403	T lymphocytopenia	3718	JAK3	OMIM:600802
HP:0005403	T lymphocytopenia	3718	JAK3	ORPHA:35078
HP:0005403	T lymphocytopenia	3561	IL2RG	OMIM:300400
HP:0005403	T lymphocytopenia	23149	FCHO1	OMIM:619164
HP:0005403	T lymphocytopenia	5788	PTPRC	OMIM:619924
HP:0005403	T lymphocytopenia	472	ATM	OMIM:208900
HP:0005403	T lymphocytopenia	5591	PRKDC	OMIM:615966
HP:0005403	T lymphocytopenia	917	CD3G	OMIM:615607
HP:0005403	T lymphocytopenia	79840	NHEJ1	ORPHA:169079
HP:0005403	T lymphocytopenia	57724	EPG5	OMIM:242840
HP:0005403	T lymphocytopenia	5994	RFXAP	ORPHA:572
HP:0005403	T lymphocytopenia	4261	CIITA	ORPHA:572
HP:0005403	T lymphocytopenia	5993	RFX5	ORPHA:572
HP:0005403	T lymphocytopenia	8625	RFXANK	ORPHA:572
HP:0005403	T lymphocytopenia	54	ACP5	OMIM:607944
HP:0005403	T lymphocytopenia	4615	MYD88	OMIM:612260
HP:0005403	T lymphocytopenia	919	CD247	OMIM:610163
HP:0005403	T lymphocytopenia	64919	BCL11B	OMIM:617237
HP:0005403	T lymphocytopenia	915	CD3D	OMIM:615617
HP:0005403	T lymphocytopenia	3431	SP110	ORPHA:79124
HP:0005403	T lymphocytopenia	6850	SYK	OMIM:619381
HP:0005403	T lymphocytopenia	1794	DOCK2	OMIM:616433
HP:0005403	T lymphocytopenia	3559	IL2RA	OMIM:606367
HP:0005403	T lymphocytopenia	81704	DOCK8	ORPHA:217390
HP:0005403	T lymphocytopenia	355	FAS	ORPHA:3261
HP:0005403	T lymphocytopenia	356	FASLG	ORPHA:3261
HP:0005403	T lymphocytopenia	5580	PRKCD	ORPHA:3261
HP:0005403	T lymphocytopenia	843	CASP10	ORPHA:3261
HP:0005403	T lymphocytopenia	10125	RASGRP1	ORPHA:3261
HP:0005403	T lymphocytopenia	7454	WAS	OMIM:301000
HP:0005403	T lymphocytopenia	84061	MAGT1	OMIM:300853
HP:0005403	T lymphocytopenia	3702	ITK	OMIM:613011
HP:0005403	T lymphocytopenia	10625	IVNS1ABP	OMIM:618969
HP:0005403	T lymphocytopenia	3551	IKBKB	OMIM:618204
HP:0005403	T lymphocytopenia	3932	LCK	OMIM:615758
HP:0005403	T lymphocytopenia	54440	SASH3	OMIM:301082
HP:0005403	T lymphocytopenia	90417	KNSTRN	ORPHA:221139
HP:0005403	T lymphocytopenia	4609	MYC	ORPHA:543
HP:0005403	T lymphocytopenia	56160	NSMCE3	OMIM:617241
HP:0005403	T lymphocytopenia	3953	LEPR	ORPHA:179494
HP:0005403	T lymphocytopenia	3952	LEP	ORPHA:66628
HP:0005403	T lymphocytopenia	7456	WIPF1	OMIM:614493
HP:0005403	T lymphocytopenia	5294	PIK3CG	OMIM:619802
HP:0005403	T lymphocytopenia	7535	ZAP70	OMIM:269840
HP:0005403	T lymphocytopenia	7535	ZAP70	ORPHA:911
HP:0005403	T lymphocytopenia	925	CD8A	OMIM:608957
HP:0045080	Decreased proportion of CD3-positive T cells	3561	IL2RG	ORPHA:276
HP:0045080	Decreased proportion of CD3-positive T cells	4860	PNP	ORPHA:760
HP:0045080	Decreased proportion of CD3-positive T cells	5896	RAG1	ORPHA:331206
HP:0045080	Decreased proportion of CD3-positive T cells	5897	RAG2	ORPHA:331206
HP:0045080	Decreased proportion of CD3-positive T cells	3575	IL7R	ORPHA:169154
HP:0045080	Decreased proportion of CD3-positive T cells	5238	PGM3	ORPHA:443811
HP:0045080	Decreased proportion of CD3-positive T cells	916	CD3E	OMIM:615615
HP:0045080	Decreased proportion of CD3-positive T cells	916	CD3E	ORPHA:169160
HP:0045080	Decreased proportion of CD3-positive T cells	915	CD3D	ORPHA:169160
HP:0045080	Decreased proportion of CD3-positive T cells	919	CD247	ORPHA:169160
HP:0045080	Decreased proportion of CD3-positive T cells	64421	DCLRE1C	ORPHA:275
HP:0045073	Serositis	26191	PTPN22	ORPHA:397
HP:0045073	Serositis	26191	PTPN22	ORPHA:900
HP:0045073	Serositis	26191	PTPN22	OMIM:152700
HP:0045073	Serositis	3106	HLA-B	ORPHA:397
HP:0045073	Serositis	3106	HLA-B	ORPHA:29207
HP:0045073	Serositis	3106	HLA-B	ORPHA:117
HP:0045073	Serositis	3123	HLA-DRB1	ORPHA:397
HP:0045073	Serositis	3123	HLA-DRB1	ORPHA:85414
HP:0045073	Serositis	8974	P4HA2	ORPHA:397
HP:0045073	Serositis	144811	LACC1	ORPHA:85414
HP:0045073	Serositis	4282	MIF	ORPHA:85414
HP:0045073	Serositis	3569	IL6	ORPHA:85414
HP:0045073	Serositis	3932	LCK	OMIM:615758
HP:0045073	Serositis	1493	CTLA4	ORPHA:900
HP:0045073	Serositis	1493	CTLA4	OMIM:152700
HP:0045073	Serositis	3115	HLA-DPB1	ORPHA:900
HP:0045073	Serositis	5657	PRTN3	ORPHA:900
HP:0045073	Serositis	3113	HLA-DPA1	ORPHA:900
HP:0045073	Serositis	4094	MAF	ORPHA:1272
HP:0045073	Serositis	4094	MAF	OMIM:601088
HP:0045073	Serositis	100147744	RNU7-1	OMIM:619487
HP:0045073	Serositis	3662	IRF4	ORPHA:3452
HP:0045073	Serositis	5373	PMM2	ORPHA:79318
HP:0045073	Serositis	5373	PMM2	OMIM:212065
HP:0045073	Serositis	64127	NOD2	ORPHA:90340
HP:0045073	Serositis	64127	NOD2	OMIM:186580
HP:0045073	Serositis	64127	NOD2	OMIM:617321
HP:0045073	Serositis	2212	FCGR2A	OMIM:152700
HP:0045073	Serositis	2213	FCGR2B	OMIM:152700
HP:0045073	Serositis	11277	TREX1	OMIM:152700
HP:0045073	Serositis	1773	DNASE1	OMIM:152700
HP:0045073	Serositis	3039	HBA1	ORPHA:163596
HP:0045073	Serositis	3040	HBA2	ORPHA:163596
HP:0045073	Serositis	149233	IL23R	ORPHA:117
HP:0045073	Serositis	6775	STAT4	ORPHA:117
HP:0045073	Serositis	3586	IL10	ORPHA:117
HP:0045073	Serositis	1230	CCR1	ORPHA:117
HP:0045073	Serositis	355	FAS	ORPHA:117
HP:0045073	Serositis	3592	IL12A	ORPHA:117
HP:0045073	Serositis	101928376	IL12A-AS1	ORPHA:117
HP:0045073	Serositis	7099	TLR4	ORPHA:117
HP:0045073	Serositis	3459	IFNGR1	ORPHA:117
HP:0045073	Serositis	720	C4A	ORPHA:117
HP:0045073	Serositis	337867	UBAC2	ORPHA:117
HP:0045073	Serositis	51752	ERAP1	ORPHA:117
HP:0045073	Serositis	8302	KLRC4	ORPHA:117
HP:0045073	Serositis	10216	PRG4	OMIM:208250
HP:0045073	Serositis	811	CALR	ORPHA:131
HP:0045073	Serositis	3717	JAK2	ORPHA:131
HP:0045073	Serositis	2153	F5	ORPHA:131
HP:0045073	Serositis	4210	MEFV	OMIM:134610
HP:0045073	Serositis	4210	MEFV	ORPHA:342
HP:0045073	Serositis	4210	MEFV	OMIM:249100
HP:0045073	Serositis	4629	MYH11	OMIM:619351
HP:0045073	Serositis	54914	FOCAD	OMIM:619991
HP:0045073	Serositis	4598	MVK	ORPHA:343
HP:0045073	Serositis	629	CFB	OMIM:615561
HP:0045073	Serositis	672	BRCA1	ORPHA:168829
HP:0045073	Serositis	7132	TNFRSF1A	ORPHA:32960
HP:0045073	Serositis	1991	ELANE	ORPHA:2686
HP:0045073	Serositis	4868	NPHS1	ORPHA:656
HP:0045073	Serositis	23607	CD2AP	ORPHA:656
HP:0045073	Serositis	9688	NUP93	ORPHA:656
HP:0045073	Serositis	4643	MYO1E	ORPHA:656
HP:0045073	Serositis	64423	INF2	ORPHA:656
HP:0045073	Serositis	26130	GAPVD1	ORPHA:656
HP:0045073	Serositis	7490	WT1	ORPHA:656
HP:0045073	Serositis	57122	NUP107	ORPHA:656
HP:0045073	Serositis	51479	ANKFY1	ORPHA:656
HP:0045073	Serositis	54443	ANLN	ORPHA:656
HP:0045073	Serositis	5800	PTPRO	ORPHA:656
HP:0045073	Serositis	286204	CRB2	ORPHA:656
HP:0045073	Serositis	23165	NUP205	ORPHA:656
HP:0045073	Serositis	2013	EMP2	ORPHA:656
HP:0045073	Serositis	79023	NUP37	ORPHA:656
HP:0045073	Serositis	51196	PLCE1	ORPHA:656
HP:0045073	Serositis	79902	NUP85	ORPHA:656
HP:0045073	Serositis	1285	COL4A3	ORPHA:656
HP:0045073	Serositis	396	ARHGDIA	ORPHA:656
HP:0045073	Serositis	79934	COQ8B	ORPHA:656
HP:0045073	Serositis	23279	NUP160	ORPHA:656
HP:0045073	Serositis	9863	MAGI2	ORPHA:656
HP:0045073	Serositis	81	ACTN4	ORPHA:656
HP:0045073	Serositis	7225	TRPC6	ORPHA:656
HP:0045073	Serositis	8542	APOL1	ORPHA:656
HP:0045073	Serositis	54885	TBC1D8B	ORPHA:656
HP:0045073	Serositis	7827	NPHS2	ORPHA:656
HP:0045073	Serositis	83478	ARHGAP24	ORPHA:656
HP:0045073	Serositis	23500	DAAM2	ORPHA:656
HP:0045073	Serositis	5076	PAX2	ORPHA:656
HP:0045073	Serositis	55746	NUP133	ORPHA:656
HP:0045073	Serositis	8318	CDC45	OMIM:617063
HP:0045074	Thin eyebrow	5934	RBL2	OMIM:619690
HP:0045074	Thin eyebrow	83999	KREMEN1	OMIM:617392
HP:0045074	Thin eyebrow	51360	MBTPS2	ORPHA:2273
HP:0045074	Thin eyebrow	8812	CCNK	OMIM:618147
HP:0045074	Thin eyebrow	23483	TGDS	OMIM:616145
HP:0045074	Thin eyebrow	165	AEBP1	OMIM:618000
HP:0045074	Thin eyebrow	10274	STAG1	OMIM:617635
HP:0045074	Thin eyebrow	10274	STAG1	ORPHA:502434
HP:0045074	Thin eyebrow	100151683	RNU4ATAC	ORPHA:2636
HP:0045074	Thin eyebrow	7994	KAT6A	OMIM:616268
HP:0045074	Thin eyebrow	79574	EPS8L3	OMIM:612841
HP:0045074	Thin eyebrow	773	CACNA1A	ORPHA:2131
HP:0045074	Thin eyebrow	6507	SLC1A3	ORPHA:2131
HP:0045074	Thin eyebrow	477	ATP1A2	ORPHA:2131
HP:0045074	Thin eyebrow	478	ATP1A3	ORPHA:2131
HP:0045074	Thin eyebrow	5189	PEX1	ORPHA:3220
HP:0045074	Thin eyebrow	5190	PEX6	ORPHA:3220
HP:0045074	Thin eyebrow	64919	BCL11B	OMIM:618092
HP:0045074	Thin eyebrow	8318	CDC45	OMIM:617063
HP:0045074	Thin eyebrow	80816	ASXL3	OMIM:615485
HP:0045074	Thin eyebrow	23030	KDM4B	OMIM:619320
HP:0045074	Thin eyebrow	10157	AASS	ORPHA:2203
HP:0045074	Thin eyebrow	22907	DHX30	OMIM:617804
HP:0045074	Thin eyebrow	7227	TRPS1	OMIM:190350
HP:0045074	Thin eyebrow	89910	UBE3B	ORPHA:2707
HP:0045075	Sparse eyebrow	3981	LIG4	ORPHA:235
HP:0045075	Sparse eyebrow	54888	NSUN2	ORPHA:235
HP:0045075	Sparse eyebrow	8367	H4C5	OMIM:619950
HP:0045075	Sparse eyebrow	126695	KDF1	OMIM:617337
HP:0045075	Sparse eyebrow	80232	WDR26	OMIM:617616
HP:0045075	Sparse eyebrow	80232	WDR26	ORPHA:513456
HP:0045075	Sparse eyebrow	5361	PLXNA1	OMIM:619955
HP:0045075	Sparse eyebrow	57511	COG6	ORPHA:363523
HP:0045075	Sparse eyebrow	10026	PIGK	OMIM:618879
HP:0045075	Sparse eyebrow	51111	KMT5B	OMIM:617788
HP:0045075	Sparse eyebrow	5500	PPP1CB	OMIM:617506
HP:0045075	Sparse eyebrow	112802	KRT71	ORPHA:170
HP:0045075	Sparse eyebrow	147183	KRT25	ORPHA:170
HP:0045075	Sparse eyebrow	10084	PQBP1	OMIM:309500
HP:0045075	Sparse eyebrow	3190	HNRNPK	OMIM:616580
HP:0045075	Sparse eyebrow	92255	LMBRD2	OMIM:619694
HP:0045075	Sparse eyebrow	9487	PIGL	OMIM:280000
HP:0045075	Sparse eyebrow	545	ATR	OMIM:614564
HP:0045075	Sparse eyebrow	23184	MESD	OMIM:618644
HP:0045075	Sparse eyebrow	6926	TBX3	OMIM:181450
HP:0045075	Sparse eyebrow	10524	KAT5	OMIM:619103
HP:0045075	Sparse eyebrow	341208	HEPHL1	OMIM:261990
HP:0045075	Sparse eyebrow	5813	PURA	ORPHA:314655
HP:0045075	Sparse eyebrow	23511	NUP188	OMIM:618804
HP:0045075	Sparse eyebrow	7994	KAT6A	OMIM:616268
HP:0045075	Sparse eyebrow	6595	SMARCA2	OMIM:601358
HP:0045075	Sparse eyebrow	6925	TCF4	OMIM:610954
HP:0045075	Sparse eyebrow	6477	SIAH1	OMIM:619314
HP:0045075	Sparse eyebrow	7528	YY1	ORPHA:506358
HP:0045075	Sparse eyebrow	7528	YY1	OMIM:617557
HP:0045075	Sparse eyebrow	147495	APCDD1	OMIM:605389
HP:0045075	Sparse eyebrow	147495	APCDD1	ORPHA:55654
HP:0045075	Sparse eyebrow	11253	MAN1B1	ORPHA:397941
HP:0045075	Sparse eyebrow	11253	MAN1B1	OMIM:614202
HP:0045075	Sparse eyebrow	8925	HERC1	OMIM:617011
HP:0045075	Sparse eyebrow	8925	HERC1	ORPHA:457359
HP:0045075	Sparse eyebrow	8216	LZTR1	OMIM:616564
HP:0045075	Sparse eyebrow	8216	LZTR1	OMIM:605275
HP:0045075	Sparse eyebrow	60529	ALX4	OMIM:613451
HP:0045075	Sparse eyebrow	100151683	RNU4ATAC	OMIM:210710
HP:0045075	Sparse eyebrow	2972	BRF1	OMIM:616202
HP:0045075	Sparse eyebrow	2972	BRF1	ORPHA:444072
HP:0045075	Sparse eyebrow	9759	HDAC4	ORPHA:1001
HP:0045075	Sparse eyebrow	57539	WDR35	OMIM:613610
HP:0045075	Sparse eyebrow	5894	RAF1	OMIM:611553
HP:0045075	Sparse eyebrow	8626	TP63	OMIM:604292
HP:0045075	Sparse eyebrow	8626	TP63	OMIM:129400
HP:0045075	Sparse eyebrow	8626	TP63	ORPHA:69085
HP:0045075	Sparse eyebrow	8626	TP63	ORPHA:1896
HP:0045075	Sparse eyebrow	79650	USB1	OMIM:604173
HP:0045075	Sparse eyebrow	9401	RECQL4	OMIM:268400
HP:0045075	Sparse eyebrow	9401	RECQL4	OMIM:266280
HP:0045075	Sparse eyebrow	2706	GJB2	OMIM:602540
HP:0045075	Sparse eyebrow	2706	GJB2	ORPHA:477
HP:0045075	Sparse eyebrow	2706	GJB2	OMIM:148210
HP:0045075	Sparse eyebrow	51360	MBTPS2	OMIM:308800
HP:0045075	Sparse eyebrow	267010	RNU12	OMIM:603116
HP:0045075	Sparse eyebrow	3728	JUP	OMIM:601214
HP:0045075	Sparse eyebrow	116931	MED12L	OMIM:618872
HP:0045075	Sparse eyebrow	9578	CDC42BPB	OMIM:619841
HP:0045075	Sparse eyebrow	3020	H3-3A	OMIM:619720
HP:0045075	Sparse eyebrow	6651	SON	OMIM:617140
HP:0045075	Sparse eyebrow	6651	SON	ORPHA:500150
HP:0045075	Sparse eyebrow	57520	HECW2	OMIM:617268
HP:0045075	Sparse eyebrow	89910	UBE3B	OMIM:244450
HP:0045075	Sparse eyebrow	1825	DSC3	OMIM:613102
HP:0045075	Sparse eyebrow	4953	ODC1	ORPHA:544488
HP:0045075	Sparse eyebrow	998	CDC42	OMIM:616737
HP:0045075	Sparse eyebrow	998	CDC42	ORPHA:487796
HP:0045075	Sparse eyebrow	3872	KRT17	OMIM:167210
HP:0045075	Sparse eyebrow	26128	KIFBP	ORPHA:66629
HP:0045075	Sparse eyebrow	9076	CLDN1	ORPHA:59303
HP:0045075	Sparse eyebrow	9076	CLDN1	OMIM:607626
HP:0045075	Sparse eyebrow	79158	GNPTAB	OMIM:252500
HP:0045075	Sparse eyebrow	6904	TBCD	ORPHA:496641
HP:0045075	Sparse eyebrow	6904	TBCD	OMIM:617193
HP:0045075	Sparse eyebrow	16	AARS1	OMIM:619691
HP:0045075	Sparse eyebrow	1896	EDA	OMIM:305100
HP:0045075	Sparse eyebrow	6023	RMRP	ORPHA:175
HP:0045075	Sparse eyebrow	6023	RMRP	OMIM:250250
HP:0045075	Sparse eyebrow	23221	RHOBTB2	OMIM:618004
HP:0045075	Sparse eyebrow	9469	CHST3	ORPHA:263463
HP:0045075	Sparse eyebrow	9469	CHST3	OMIM:143095
HP:0045075	Sparse eyebrow	64324	NSD1	OMIM:117550
HP:0045075	Sparse eyebrow	54453	RIN2	OMIM:613075
HP:0045075	Sparse eyebrow	4141	MARS1	OMIM:619692
HP:0045075	Sparse eyebrow	8260	NAA10	OMIM:300855
HP:0045075	Sparse eyebrow	10265	IRX5	OMIM:611174
HP:0045075	Sparse eyebrow	81857	MED25	ORPHA:464738
HP:0045075	Sparse eyebrow	1801	DPH1	OMIM:616901
HP:0045075	Sparse eyebrow	1801	DPH1	ORPHA:459061
HP:0045075	Sparse eyebrow	22845	DOLK	OMIM:610768
HP:0045075	Sparse eyebrow	80326	WNT10A	OMIM:257980
HP:0045075	Sparse eyebrow	80326	WNT10A	OMIM:150400
HP:0045075	Sparse eyebrow	10804	GJB6	OMIM:129500
HP:0045075	Sparse eyebrow	10804	GJB6	ORPHA:477
HP:0045075	Sparse eyebrow	10804	GJB6	ORPHA:189
HP:0045075	Sparse eyebrow	6768	ST14	OMIM:602400
HP:0045075	Sparse eyebrow	7286	TUFT1	OMIM:607655
HP:0045075	Sparse eyebrow	1301	COL11A1	ORPHA:560
HP:0045075	Sparse eyebrow	9896	FIG4	ORPHA:3472
HP:0045075	Sparse eyebrow	9896	FIG4	OMIM:216340
HP:0045075	Sparse eyebrow	55697	VAC14	ORPHA:3472
HP:0045075	Sparse eyebrow	23028	KDM1A	ORPHA:477993
HP:0045075	Sparse eyebrow	4212	MEIS2	OMIM:600987
HP:0045075	Sparse eyebrow	10682	EBP	ORPHA:35173
HP:0045075	Sparse eyebrow	10682	EBP	OMIM:302960
HP:0045075	Sparse eyebrow	8550	MAPKAPK5	OMIM:619869
HP:0045075	Sparse eyebrow	55012	PPP2R3C	OMIM:618419
HP:0045075	Sparse eyebrow	1954	MEGF8	OMIM:614976
HP:0045075	Sparse eyebrow	55210	ATAD3A	OMIM:618810
HP:0045075	Sparse eyebrow	200734	SPRED2	OMIM:619745
HP:0045075	Sparse eyebrow	9419	CRIPT	OMIM:615789
HP:0045075	Sparse eyebrow	55623	THUMPD1	OMIM:619989
HP:0045075	Sparse eyebrow	374393	FAM111B	OMIM:615704
HP:0045075	Sparse eyebrow	6234	RPS28	OMIM:606164
HP:0045075	Sparse eyebrow	11285	B4GALT7	ORPHA:75496
HP:0045075	Sparse eyebrow	6611	SMS	ORPHA:3063
HP:0045075	Sparse eyebrow	6611	SMS	OMIM:309583
HP:0045075	Sparse eyebrow	200879	LIPH	OMIM:604379
HP:0045075	Sparse eyebrow	200879	LIPH	ORPHA:55654
HP:0045075	Sparse eyebrow	8092	ALX1	ORPHA:306542
HP:0045075	Sparse eyebrow	7737	RNF113A	OMIM:300953
HP:0045075	Sparse eyebrow	1001	CDH3	OMIM:225280
HP:0045075	Sparse eyebrow	117581	TWIST2	OMIM:209885
HP:0045075	Sparse eyebrow	4035	LRP1	OMIM:604093
HP:0045075	Sparse eyebrow	10283	CWC27	OMIM:250410
HP:0045075	Sparse eyebrow	11128	POLR3A	OMIM:264090
HP:0045075	Sparse eyebrow	3675	ITGA3	OMIM:614748
HP:0045075	Sparse eyebrow	8085	KMT2D	OMIM:620186
HP:0045075	Sparse eyebrow	8085	KMT2D	OMIM:147920
HP:0045075	Sparse eyebrow	8405	SPOP	OMIM:618829
HP:0045075	Sparse eyebrow	2697	GJA1	OMIM:104100
HP:0045075	Sparse eyebrow	2697	GJA1	ORPHA:1010
HP:0045075	Sparse eyebrow	128178	EDARADD	OMIM:129490
HP:0045075	Sparse eyebrow	128178	EDARADD	OMIM:224900
HP:0045075	Sparse eyebrow	10913	EDAR	OMIM:129490
HP:0045075	Sparse eyebrow	10913	EDAR	OMIM:224900
HP:0045075	Sparse eyebrow	4047	LSS	ORPHA:55654
HP:0045075	Sparse eyebrow	6144	RPL21	ORPHA:55654
HP:0045075	Sparse eyebrow	147409	DSG4	ORPHA:55654
HP:0045075	Sparse eyebrow	147409	DSG4	OMIM:607903
HP:0045075	Sparse eyebrow	6635	SNRPE	ORPHA:55654
HP:0045075	Sparse eyebrow	10161	LPAR6	ORPHA:55654
HP:0045075	Sparse eyebrow	10161	LPAR6	OMIM:278150
HP:0045075	Sparse eyebrow	51611	DPH5	OMIM:620070
HP:0045075	Sparse eyebrow	2571	GAD1	OMIM:619124
HP:0045075	Sparse eyebrow	10651	MTX2	OMIM:619127
HP:0045075	Sparse eyebrow	25959	KANK2	OMIM:616099
HP:0045075	Sparse eyebrow	11005	SPINK5	OMIM:256500
HP:0045075	Sparse eyebrow	11005	SPINK5	ORPHA:634
HP:0045075	Sparse eyebrow	54676	GTPBP2	OMIM:617988
HP:0045075	Sparse eyebrow	79971	WLS	OMIM:619648
HP:0045075	Sparse eyebrow	84946	LTV1	OMIM:620199
HP:0045075	Sparse eyebrow	10430	TMEM147	OMIM:620075
HP:0045075	Sparse eyebrow	7480	WNT10B	OMIM:617073
HP:0045075	Sparse eyebrow	9968	MED12	OMIM:300895
HP:0045075	Sparse eyebrow	153241	CEP120	OMIM:616300
HP:0045075	Sparse eyebrow	4781	NFIB	OMIM:618286
HP:0045075	Sparse eyebrow	4763	NF1	ORPHA:139474
HP:0045075	Sparse eyebrow	1748	DLX4	OMIM:616788
HP:0045075	Sparse eyebrow	10735	STAG2	ORPHA:521258
HP:0045075	Sparse eyebrow	5818	NECTIN1	OMIM:225060
HP:0045075	Sparse eyebrow	84168	ANTXR1	OMIM:230740
HP:0045075	Sparse eyebrow	84168	ANTXR1	ORPHA:2067
HP:0045075	Sparse eyebrow	4000	LMNA	ORPHA:1662
HP:0045075	Sparse eyebrow	10269	ZMPSTE24	ORPHA:1662
HP:0045075	Sparse eyebrow	10269	ZMPSTE24	OMIM:275210
HP:0045075	Sparse eyebrow	8815	BANF1	OMIM:614008
HP:0045075	Sparse eyebrow	51574	LARP7	ORPHA:319671
HP:0045075	Sparse eyebrow	121391	KRT74	OMIM:614929
HP:0045075	Sparse eyebrow	120766137	HRURF	OMIM:146550
HP:0045075	Sparse eyebrow	6655	SOS2	OMIM:616559
HP:0045075	Sparse eyebrow	6654	SOS1	OMIM:610733
HP:0045075	Sparse eyebrow	3720	JARID2	OMIM:620098
HP:0045075	Sparse eyebrow	7403	KDM6A	OMIM:147920
HP:0045075	Sparse eyebrow	7227	TRPS1	ORPHA:77258
HP:0045079	Distal femoral metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0045081	Abnormality of body mass index	2321	FLT1	ORPHA:275555
HP:0045081	Abnormality of body mass index	219736	STOX1	ORPHA:275555
HP:0045081	Abnormality of body mass index	10699	CORIN	ORPHA:275555
HP:0045081	Abnormality of body mass index	57187	THOC2	OMIM:300957
HP:0045081	Abnormality of body mass index	7067	THRA	OMIM:614450
HP:0045081	Abnormality of body mass index	3767	KCNJ11	OMIM:616329
HP:0045081	Abnormality of body mass index	6567	SLC16A2	ORPHA:59
HP:0045081	Abnormality of body mass index	3064	HTT	ORPHA:399
HP:0045081	Abnormality of body mass index	6515	SLC2A3	ORPHA:399
HP:0045081	Abnormality of body mass index	6804	STX1A	ORPHA:586
HP:0045081	Abnormality of body mass index	2947	GSTM3	ORPHA:586
HP:0045081	Abnormality of body mass index	7040	TGFB1	ORPHA:586
HP:0045081	Abnormality of body mass index	2729	GCLC	ORPHA:586
HP:0045081	Abnormality of body mass index	1084	CEACAM3	ORPHA:586
HP:0045081	Abnormality of body mass index	6556	SLC11A1	ORPHA:586
HP:0045081	Abnormality of body mass index	51164	DCTN4	ORPHA:586
HP:0045081	Abnormality of body mass index	3783	KCNN4	ORPHA:586
HP:0045081	Abnormality of body mass index	4282	MIF	ORPHA:586
HP:0045081	Abnormality of body mass index	1909	EDNRA	ORPHA:586
HP:0045081	Abnormality of body mass index	6550	SLC9A3	ORPHA:586
HP:0045081	Abnormality of body mass index	3162	HMOX1	ORPHA:586
HP:0045081	Abnormality of body mass index	115019	SLC26A9	ORPHA:586
HP:0045081	Abnormality of body mass index	3077	HFE	ORPHA:586
HP:0045081	Abnormality of body mass index	11254	SLC6A14	ORPHA:586
HP:0045081	Abnormality of body mass index	5265	SERPINA1	ORPHA:586
HP:0045081	Abnormality of body mass index	1080	CFTR	ORPHA:586
HP:0045081	Abnormality of body mass index	22802	CLCA4	ORPHA:586
HP:0045081	Abnormality of body mass index	4680	CEACAM6	ORPHA:586
HP:0045081	Abnormality of body mass index	10165	SLC25A13	ORPHA:247585
HP:0045082	Decreased body mass index	6567	SLC16A2	ORPHA:59
HP:0045082	Decreased body mass index	3064	HTT	ORPHA:399
HP:0045082	Decreased body mass index	6515	SLC2A3	ORPHA:399
HP:0045082	Decreased body mass index	6804	STX1A	ORPHA:586
HP:0045082	Decreased body mass index	2947	GSTM3	ORPHA:586
HP:0045082	Decreased body mass index	7040	TGFB1	ORPHA:586
HP:0045082	Decreased body mass index	2729	GCLC	ORPHA:586
HP:0045082	Decreased body mass index	1084	CEACAM3	ORPHA:586
HP:0045082	Decreased body mass index	6556	SLC11A1	ORPHA:586
HP:0045082	Decreased body mass index	51164	DCTN4	ORPHA:586
HP:0045082	Decreased body mass index	3783	KCNN4	ORPHA:586
HP:0045082	Decreased body mass index	4282	MIF	ORPHA:586
HP:0045082	Decreased body mass index	1909	EDNRA	ORPHA:586
HP:0045082	Decreased body mass index	6550	SLC9A3	ORPHA:586
HP:0045082	Decreased body mass index	3162	HMOX1	ORPHA:586
HP:0045082	Decreased body mass index	115019	SLC26A9	ORPHA:586
HP:0045082	Decreased body mass index	3077	HFE	ORPHA:586
HP:0045082	Decreased body mass index	11254	SLC6A14	ORPHA:586
HP:0045082	Decreased body mass index	5265	SERPINA1	ORPHA:586
HP:0045082	Decreased body mass index	1080	CFTR	ORPHA:586
HP:0045082	Decreased body mass index	22802	CLCA4	ORPHA:586
HP:0045082	Decreased body mass index	4680	CEACAM6	ORPHA:586
HP:0045082	Decreased body mass index	10165	SLC25A13	ORPHA:247585
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:261222
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:329249
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:261197
HP:0004324	Increased body weight	27316	RBMX	OMIM:300238
HP:0004324	Increased body weight	63036	CELA2A	OMIM:618620
HP:0004324	Increased body weight	583	BBS2	OMIM:616562
HP:0004324	Increased body weight	583	BBS2	ORPHA:110
HP:0004324	Increased body weight	583	BBS2	OMIM:615981
HP:0004324	Increased body weight	583	BBS2	ORPHA:791
HP:0004324	Increased body weight	11284	PNKP	ORPHA:459033
HP:0004324	Increased body weight	11284	PNKP	OMIM:616267
HP:0004324	Increased body weight	123263	MTFMT	OMIM:614947
HP:0004324	Increased body weight	1788	DNMT3A	ORPHA:404443
HP:0004324	Increased body weight	10159	ATP6AP2	ORPHA:93952
HP:0004324	Increased body weight	23126	POGZ	ORPHA:468678
HP:0004324	Increased body weight	23126	POGZ	OMIM:616364
HP:0004324	Increased body weight	149775	GNAS-AS1	OMIM:603233
HP:0004324	Increased body weight	8675	STX16	OMIM:603233
HP:0004324	Increased body weight	7552	ZNF711	OMIM:300803
HP:0004324	Increased body weight	2314	FLII	ORPHA:819
HP:0004324	Increased body weight	23096	IQSEC2	ORPHA:819
HP:0004324	Increased body weight	23096	IQSEC2	ORPHA:217377
HP:0004324	Increased body weight	10522	DEAF1	ORPHA:819
HP:0004324	Increased body weight	9915	ARNT2	OMIM:615926
HP:0004324	Increased body weight	9915	ARNT2	ORPHA:3157
HP:0004324	Increased body weight	55780	ERMARD	ORPHA:75857
HP:0004324	Increased body weight	29072	SETD2	OMIM:620155
HP:0004324	Increased body weight	29072	SETD2	OMIM:616831
HP:0004324	Increased body weight	6926	TBX3	ORPHA:3138
HP:0004324	Increased body weight	6926	TBX3	OMIM:181450
HP:0004324	Increased body weight	1300	COL10A1	ORPHA:174
HP:0004324	Increased body weight	28958	COA3	OMIM:619058
HP:0004324	Increased body weight	9739	SETD1A	OMIM:619056
HP:0004324	Increased body weight	80204	FBXO11	OMIM:618089
HP:0004324	Increased body weight	9692	PRORP	OMIM:619737
HP:0004324	Increased body weight	3952	LEP	OMIM:614962
HP:0004324	Increased body weight	3952	LEP	ORPHA:66628
HP:0004324	Increased body weight	2770	GNAI1	OMIM:619854
HP:0004324	Increased body weight	22897	CEP164	OMIM:614845
HP:0004324	Increased body weight	3953	LEPR	OMIM:614963
HP:0004324	Increased body weight	3953	LEPR	ORPHA:179494
HP:0004324	Increased body weight	1581	CYP7A1	ORPHA:209902
HP:0004324	Increased body weight	2626	GATA4	ORPHA:251071
HP:0004324	Increased body weight	23116	TOGARAM1	OMIM:619185
HP:0004324	Increased body weight	6872	TAF1	ORPHA:480907
HP:0004324	Increased body weight	57531	HACE1	ORPHA:464282
HP:0004324	Increased body weight	57531	HACE1	OMIM:616756
HP:0004324	Increased body weight	6899	TBX1	OMIM:188400
HP:0004324	Increased body weight	6899	TBX1	ORPHA:567
HP:0004324	Increased body weight	1656	DDX6	OMIM:618653
HP:0004324	Increased body weight	5144	PDE4D	OMIM:614613
HP:0004324	Increased body weight	5144	PDE4D	ORPHA:439822
HP:0004324	Increased body weight	5144	PDE4D	ORPHA:280651
HP:0004324	Increased body weight	4915	NTRK2	OMIM:613886
HP:0004324	Increased body weight	1954	MEGF8	OMIM:614976
HP:0004324	Increased body weight	1954	MEGF8	ORPHA:65759
HP:0004324	Increased body weight	84984	CEP19	OMIM:615703
HP:0004324	Increased body weight	84984	CEP19	ORPHA:110
HP:0004324	Increased body weight	25942	SIN3A	OMIM:613406
HP:0004324	Increased body weight	25942	SIN3A	ORPHA:94065
HP:0004324	Increased body weight	54496	PRMT7	ORPHA:464288
HP:0004324	Increased body weight	54496	PRMT7	OMIM:617157
HP:0004324	Increased body weight	6197	RPS6KA3	ORPHA:276630
HP:0004324	Increased body weight	7490	WT1	OMIM:194072
HP:0004324	Increased body weight	7490	WT1	ORPHA:893
HP:0004324	Increased body weight	5080	PAX6	OMIM:194072
HP:0004324	Increased body weight	5080	PAX6	ORPHA:893
HP:0004324	Increased body weight	1588	CYP19A1	ORPHA:91
HP:0004324	Increased body weight	30011	SH3KBP1	OMIM:300310
HP:0004324	Increased body weight	92482	BBIP1	ORPHA:110
HP:0004324	Increased body weight	92482	BBIP1	OMIM:615995
HP:0004324	Increased body weight	80184	CEP290	ORPHA:110
HP:0004324	Increased body weight	80184	CEP290	OMIM:615991
HP:0004324	Increased body weight	11020	IFT27	ORPHA:110
HP:0004324	Increased body weight	11020	IFT27	OMIM:615996
HP:0004324	Increased body weight	49855	SCAPER	ORPHA:110
HP:0004324	Increased body weight	49855	SCAPER	ORPHA:791
HP:0004324	Increased body weight	4867	NPHP1	ORPHA:110
HP:0004324	Increased body weight	51057	WDPCP	ORPHA:110
HP:0004324	Increased body weight	22954	TRIM32	ORPHA:110
HP:0004324	Increased body weight	22954	TRIM32	OMIM:615988
HP:0004324	Increased body weight	54903	MKS1	ORPHA:110
HP:0004324	Increased body weight	54903	MKS1	OMIM:615990
HP:0004324	Increased body weight	79738	BBS10	ORPHA:110
HP:0004324	Increased body weight	79738	BBS10	OMIM:615987
HP:0004324	Increased body weight	123016	TTC8	ORPHA:110
HP:0004324	Increased body weight	123016	TTC8	OMIM:615985
HP:0004324	Increased body weight	123016	TTC8	ORPHA:791
HP:0004324	Increased body weight	123016	TTC8	OMIM:613464
HP:0004324	Increased body weight	26160	IFT172	ORPHA:110
HP:0004324	Increased body weight	26160	IFT172	ORPHA:791
HP:0004324	Increased body weight	26160	IFT172	OMIM:615630
HP:0004324	Increased body weight	26160	IFT172	OMIM:619471
HP:0004324	Increased body weight	585	BBS4	ORPHA:110
HP:0004324	Increased body weight	585	BBS4	OMIM:615982
HP:0004324	Increased body weight	8195	MKKS	ORPHA:110
HP:0004324	Increased body weight	8195	MKKS	OMIM:605231
HP:0004324	Increased body weight	54585	LZTFL1	ORPHA:110
HP:0004324	Increased body weight	54585	LZTFL1	OMIM:615994
HP:0004324	Increased body weight	55212	BBS7	ORPHA:110
HP:0004324	Increased body weight	55212	BBS7	OMIM:615984
HP:0004324	Increased body weight	166379	BBS12	ORPHA:110
HP:0004324	Increased body weight	166379	BBS12	OMIM:615989
HP:0004324	Increased body weight	10806	SDCCAG8	ORPHA:110
HP:0004324	Increased body weight	10806	SDCCAG8	OMIM:615993
HP:0004324	Increased body weight	129880	BBS5	ORPHA:110
HP:0004324	Increased body weight	129880	BBS5	OMIM:615983
HP:0004324	Increased body weight	57498	KIDINS220	ORPHA:521390
HP:0004324	Increased body weight	57498	KIDINS220	OMIM:617296
HP:0004324	Increased body weight	27125	AFF4	OMIM:616368
HP:0004324	Increased body weight	27125	AFF4	ORPHA:444077
HP:0004324	Increased body weight	10908	PNPLA6	ORPHA:2377
HP:0004324	Increased body weight	10908	PNPLA6	OMIM:245800
HP:0004324	Increased body weight	4808	NHLH2	OMIM:619755
HP:0004324	Increased body weight	6804	STX1A	ORPHA:904
HP:0004324	Increased body weight	7461	CLIP2	ORPHA:904
HP:0004324	Increased body weight	84277	DNAJC30	ORPHA:904
HP:0004324	Increased body weight	8468	FKBP6	ORPHA:904
HP:0004324	Increased body weight	5982	RFC2	ORPHA:904
HP:0004324	Increased body weight	2969	GTF2I	ORPHA:904
HP:0004324	Increased body weight	3984	LIMK1	ORPHA:904
HP:0004324	Increased body weight	9569	GTF2IRD1	ORPHA:904
HP:0004324	Increased body weight	155382	VPS37D	ORPHA:904
HP:0004324	Increased body weight	155368	METTL27	ORPHA:904
HP:0004324	Increased body weight	114049	BUD23	ORPHA:904
HP:0004324	Increased body weight	7458	EIF4H	ORPHA:904
HP:0004324	Increased body weight	84163	GTF2IRD2	ORPHA:904
HP:0004324	Increased body weight	9275	BCL7B	ORPHA:904
HP:0004324	Increased body weight	26608	TBL2	ORPHA:904
HP:0004324	Increased body weight	653361	NCF1	ORPHA:904
HP:0004324	Increased body weight	135886	TMEM270	ORPHA:904
HP:0004324	Increased body weight	51085	MLXIPL	ORPHA:904
HP:0004324	Increased body weight	51085	MLXIPL	OMIM:194050
HP:0004324	Increased body weight	9031	BAZ1B	ORPHA:904
HP:0004324	Increased body weight	2006	ELN	ORPHA:904
HP:0004324	Increased body weight	2006	ELN	OMIM:194050
HP:0004324	Increased body weight	8314	BAP1	ORPHA:2495
HP:0004324	Increased body weight	4771	NF2	ORPHA:2495
HP:0004324	Increased body weight	6598	SMARCB1	ORPHA:2495
HP:0004324	Increased body weight	5155	PDGFB	ORPHA:2495
HP:0004324	Increased body weight	84231	TRAF7	ORPHA:2495
HP:0004324	Increased body weight	6608	SMO	ORPHA:2495
HP:0004324	Increased body weight	207	AKT1	ORPHA:2495
HP:0004324	Increased body weight	5290	PIK3CA	ORPHA:2495
HP:0004324	Increased body weight	6605	SMARCE1	ORPHA:2495
HP:0004324	Increased body weight	5590	PRKCZ	ORPHA:1606
HP:0004324	Increased body weight	2563	GABRD	ORPHA:1606
HP:0004324	Increased body weight	23013	SPEN	ORPHA:1606
HP:0004324	Increased body weight	23013	SPEN	OMIM:619312
HP:0004324	Increased body weight	8510	MMP23B	ORPHA:1606
HP:0004324	Increased body weight	7798	LUZP1	ORPHA:1606
HP:0004324	Increased body weight	6497	SKI	ORPHA:1606
HP:0004324	Increased body weight	10630	PDPN	ORPHA:1606
HP:0004324	Increased body weight	3339	HSPG2	ORPHA:1606
HP:0004324	Increased body weight	10277	UBE4B	ORPHA:1606
HP:0004324	Increased body weight	8514	KCNAB2	ORPHA:1606
HP:0004324	Increased body weight	473	RERE	ORPHA:1606
HP:0004324	Increased body weight	63976	PRDM16	ORPHA:1606
HP:0004324	Increased body weight	54897	CASZ1	ORPHA:1606
HP:0004324	Increased body weight	6638	SNRPN	OMIM:105830
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:98754
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177904
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177901
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177910
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177907
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:411515
HP:0004324	Increased body weight	7337	UBE3A	OMIM:105830
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:98794
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:411511
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:411515
HP:0004324	Increased body weight	100134444	KCNJ18	ORPHA:79102
HP:0004324	Increased body weight	2556	GABRA3	ORPHA:79102
HP:0004324	Increased body weight	779	CACNA1S	ORPHA:79102
HP:0004324	Increased body weight	55027	HEATR3	OMIM:620072
HP:0004324	Increased body weight	283209	PGM2L1	OMIM:620191
HP:0004324	Increased body weight	4089	SMAD4	OMIM:139210
HP:0004324	Increased body weight	8481	OFD1	OMIM:300209
HP:0004324	Increased body weight	8481	OFD1	ORPHA:791
HP:0004324	Increased body weight	6942	TCF20	OMIM:618430
HP:0004324	Increased body weight	4205	MEF2A	OMIM:608320
HP:0004324	Increased body weight	6473	SHOX	ORPHA:314795
HP:0004324	Increased body weight	124583	CANT1	OMIM:251450
HP:0004324	Increased body weight	4692	NDN	ORPHA:98754
HP:0004324	Increased body weight	4692	NDN	ORPHA:177904
HP:0004324	Increased body weight	4692	NDN	ORPHA:177901
HP:0004324	Increased body weight	4692	NDN	ORPHA:177910
HP:0004324	Increased body weight	4948	OCA2	ORPHA:98754
HP:0004324	Increased body weight	4948	OCA2	ORPHA:98794
HP:0004324	Increased body weight	4948	OCA2	ORPHA:177904
HP:0004324	Increased body weight	4948	OCA2	ORPHA:177901
HP:0004324	Increased body weight	7030	TFE3	OMIM:301066
HP:0004324	Increased body weight	23162	MAPK8IP3	OMIM:618443
HP:0004324	Increased body weight	51199	NIN	ORPHA:319675
HP:0004324	Increased body weight	2273	FHL1	ORPHA:98863
HP:0004324	Increased body weight	2010	EMD	ORPHA:98863
HP:0004324	Increased body weight	1642	DDB1	OMIM:619426
HP:0004324	Increased body weight	4000	LMNA	ORPHA:98855
HP:0004324	Increased body weight	4000	LMNA	ORPHA:98853
HP:0004324	Increased body weight	2260	FGFR1	ORPHA:478
HP:0004324	Increased body weight	2260	FGFR1	ORPHA:3157
HP:0004324	Increased body weight	10371	SEMA3A	ORPHA:478
HP:0004324	Increased body weight	81848	SPRY4	ORPHA:478
HP:0004324	Increased body weight	23767	FLRT3	ORPHA:478
HP:0004324	Increased body weight	128674	PROKR2	ORPHA:478
HP:0004324	Increased body weight	128674	PROKR2	ORPHA:3157
HP:0004324	Increased body weight	79625	NDNF	ORPHA:478
HP:0004324	Increased body weight	2253	FGF8	ORPHA:478
HP:0004324	Increased body weight	389549	FEZF1	ORPHA:478
HP:0004324	Increased body weight	1630	DCC	ORPHA:478
HP:0004324	Increased body weight	3730	ANOS1	ORPHA:478
HP:0004324	Increased body weight	54756	IL17RD	ORPHA:478
HP:0004324	Increased body weight	6663	SOX10	ORPHA:478
HP:0004324	Increased body weight	285025	CCDC141	ORPHA:478
HP:0004324	Increased body weight	60675	PROK2	ORPHA:478
HP:0004324	Increased body weight	60675	PROK2	OMIM:610628
HP:0004324	Increased body weight	55636	CHD7	ORPHA:478
HP:0004324	Increased body weight	1848	DUSP6	ORPHA:478
HP:0004324	Increased body weight	6870	TACR3	ORPHA:478
HP:0004324	Increased body weight	55717	WDR11	ORPHA:478
HP:0004324	Increased body weight	9394	HS6ST1	ORPHA:478
HP:0004324	Increased body weight	8822	FGF17	ORPHA:478
HP:0004324	Increased body weight	79188	TMEM43	ORPHA:98853
HP:0004324	Increased body weight	23345	SYNE1	ORPHA:98853
HP:0004324	Increased body weight	23224	SYNE2	ORPHA:98853
HP:0004324	Increased body weight	55217	TMLHE	OMIM:300872
HP:0004324	Increased body weight	92840	REEP6	ORPHA:791
HP:0004324	Increased body weight	6094	ROM1	ORPHA:791
HP:0004324	Increased body weight	6017	RLBP1	ORPHA:791
HP:0004324	Increased body weight	7401	CLRN1	ORPHA:791
HP:0004324	Increased body weight	24	ABCA4	ORPHA:791
HP:0004324	Increased body weight	130557	ZNF513	ORPHA:791
HP:0004324	Increased body weight	92211	CDHR1	ORPHA:791
HP:0004324	Increased body weight	23568	ARL2BP	ORPHA:791
HP:0004324	Increased body weight	6121	RPE65	ORPHA:791
HP:0004324	Increased body weight	54806	AHI1	ORPHA:791
HP:0004324	Increased body weight	6101	RP1	ORPHA:791
HP:0004324	Increased body weight	3419	IDH3A	ORPHA:791
HP:0004324	Increased body weight	4751	NEK2	ORPHA:791
HP:0004324	Increased body weight	346007	EYS	ORPHA:791
HP:0004324	Increased body weight	8100	IFT88	ORPHA:791
HP:0004324	Increased body weight	23020	SNRNP200	ORPHA:791
HP:0004324	Increased body weight	762	CA4	ORPHA:791
HP:0004324	Increased body weight	138050	HGSNAT	ORPHA:791
HP:0004324	Increased body weight	196	AHR	ORPHA:791
HP:0004324	Increased body weight	3614	IMPDH1	ORPHA:791
HP:0004324	Increased body weight	6103	RPGR	ORPHA:791
HP:0004324	Increased body weight	1406	CRX	ORPHA:791
HP:0004324	Increased body weight	5148	PDE6G	ORPHA:791
HP:0004324	Increased body weight	26121	PRPF31	ORPHA:791
HP:0004324	Increased body weight	4117	MAK	ORPHA:791
HP:0004324	Increased body weight	25794	FSCN2	ORPHA:791
HP:0004324	Increased body weight	375298	CERKL	ORPHA:791
HP:0004324	Increased body weight	3420	IDH3B	ORPHA:791
HP:0004324	Increased body weight	57670	KIAA1549	ORPHA:791
HP:0004324	Increased body weight	7275	TUB	ORPHA:791
HP:0004324	Increased body weight	7275	TUB	OMIM:616188
HP:0004324	Increased body weight	24148	PRPF6	ORPHA:791
HP:0004324	Increased body weight	23418	CRB1	ORPHA:791
HP:0004324	Increased body weight	10461	MERTK	ORPHA:791
HP:0004324	Increased body weight	57709	SLC7A14	ORPHA:791
HP:0004324	Increased body weight	768206	PRCD	ORPHA:791
HP:0004324	Increased body weight	7399	USH2A	ORPHA:791
HP:0004324	Increased body weight	23370	ARHGEF18	ORPHA:791
HP:0004324	Increased body weight	5949	RBP3	ORPHA:791
HP:0004324	Increased body weight	6010	RHO	ORPHA:791
HP:0004324	Increased body weight	6100	RP9	ORPHA:791
HP:0004324	Increased body weight	10002	NR2E3	ORPHA:791
HP:0004324	Increased body weight	9227	LRAT	ORPHA:791
HP:0004324	Increased body weight	84140	FAM161A	ORPHA:791
HP:0004324	Increased body weight	55812	SPATA7	ORPHA:791
HP:0004324	Increased body weight	55624	POMGNT1	ORPHA:791
HP:0004324	Increased body weight	79797	ZNF408	ORPHA:791
HP:0004324	Increased body weight	403	ARL3	ORPHA:791
HP:0004324	Increased body weight	5145	PDE6A	ORPHA:791
HP:0004324	Increased body weight	10210	TOPORS	ORPHA:791
HP:0004324	Increased body weight	8842	PROM1	ORPHA:791
HP:0004324	Increased body weight	9128	PRPF4	ORPHA:791
HP:0004324	Increased body weight	145226	RDH12	ORPHA:791
HP:0004324	Increased body weight	50939	IMPG2	ORPHA:791
HP:0004324	Increased body weight	9742	IFT140	ORPHA:791
HP:0004324	Increased body weight	2979	GUCA1B	ORPHA:791
HP:0004324	Increased body weight	1259	CNGA1	ORPHA:791
HP:0004324	Increased body weight	1258	CNGB1	ORPHA:791
HP:0004324	Increased body weight	60509	AGBL5	ORPHA:791
HP:0004324	Increased body weight	5961	PRPH2	ORPHA:791
HP:0004324	Increased body weight	388939	PCARE	ORPHA:791
HP:0004324	Increased body weight	7439	BEST1	ORPHA:791
HP:0004324	Increased body weight	9785	DHX38	ORPHA:791
HP:0004324	Increased body weight	7287	TULP1	ORPHA:791
HP:0004324	Increased body weight	5995	RGR	ORPHA:791
HP:0004324	Increased body weight	9129	PRPF3	ORPHA:791
HP:0004324	Increased body weight	55975	KLHL7	ORPHA:791
HP:0004324	Increased body weight	3617	IMPG1	ORPHA:791
HP:0004324	Increased body weight	94137	RP1L1	ORPHA:791
HP:0004324	Increased body weight	5158	PDE6B	ORPHA:791
HP:0004324	Increased body weight	6102	RP2	ORPHA:791
HP:0004324	Increased body weight	55857	KIZ	ORPHA:791
HP:0004324	Increased body weight	64218	SEMA4A	ORPHA:791
HP:0004324	Increased body weight	4901	NRL	ORPHA:791
HP:0004324	Increased body weight	10594	PRPF8	ORPHA:791
HP:0004324	Increased body weight	6295	SAG	ORPHA:791
HP:0004324	Increased body weight	79947	DHDDS	ORPHA:791
HP:0004324	Increased body weight	6492	SIM1	ORPHA:369873
HP:0004324	Increased body weight	6492	SIM1	ORPHA:171829
HP:0004324	Increased body weight	6492	SIM1	ORPHA:398079
HP:0004324	Increased body weight	91147	TMEM67	OMIM:615991
HP:0004324	Increased body weight	89891	DYNC2I2	OMIM:615633
HP:0004324	Increased body weight	3290	HSD11B1	OMIM:614662
HP:0004324	Increased body weight	9759	HDAC4	ORPHA:1001
HP:0004324	Increased body weight	9759	HDAC4	OMIM:600430
HP:0004324	Increased body weight	7681	MKRN3	OMIM:176270
HP:0004324	Increased body weight	3653	IPW	OMIM:176270
HP:0004324	Increased body weight	791114	PWRN1	OMIM:176270
HP:0004324	Increased body weight	100033413	SNORD116-1	OMIM:176270
HP:0004324	Increased body weight	8924	HERC2	OMIM:176270
HP:0004324	Increased body weight	145624	PWAR1	OMIM:176270
HP:0004324	Increased body weight	23742	NPAP1	OMIM:176270
HP:0004324	Increased body weight	338433	SNORD115-1	OMIM:176270
HP:0004324	Increased body weight	5575	PRKAR1B	OMIM:619680
HP:0004324	Increased body weight	79048	SECISBP2	ORPHA:171706
HP:0004324	Increased body weight	8085	KMT2D	ORPHA:2322
HP:0004324	Increased body weight	7403	KDM6A	ORPHA:2322
HP:0004324	Increased body weight	1363	CPE	OMIM:619326
HP:0004324	Increased body weight	348	APOE	ORPHA:412
HP:0004324	Increased body weight	4204	MECP2	OMIM:300055
HP:0004324	Increased body weight	4204	MECP2	ORPHA:3077
HP:0004324	Increased body weight	8888	MCM3AP	OMIM:618124
HP:0004324	Increased body weight	6928	HNF1B	OMIM:137920
HP:0004324	Increased body weight	85358	SHANK3	ORPHA:48652
HP:0004324	Increased body weight	291	SLC25A4	OMIM:615418
HP:0004324	Increased body weight	26146	TRAF3IP1	OMIM:616629
HP:0004324	Increased body weight	1312	COMT	ORPHA:567
HP:0004324	Increased body weight	221037	JMJD1C	ORPHA:567
HP:0004324	Increased body weight	2812	GP1BB	ORPHA:567
HP:0004324	Increased body weight	6239	RREB1	ORPHA:567
HP:0004324	Increased body weight	7290	HIRA	ORPHA:567
HP:0004324	Increased body weight	9632	SEC24C	ORPHA:567
HP:0004324	Increased body weight	7353	UFD1	ORPHA:567
HP:0004324	Increased body weight	421	ARVCF	ORPHA:567
HP:0004324	Increased body weight	2261	FGFR3	ORPHA:15
HP:0004324	Increased body weight	1760	DMPK	ORPHA:589821
HP:0004324	Increased body weight	54681	P4HTM	OMIM:618493
HP:0004324	Increased body weight	26040	SETBP1	OMIM:616078
HP:0004324	Increased body weight	23395	LARS2	OMIM:615300
HP:0004324	Increased body weight	9049	AIP	OMIM:219090
HP:0004324	Increased body weight	51715	RAB23	ORPHA:65759
HP:0004324	Increased body weight	51715	RAB23	OMIM:201000
HP:0004324	Increased body weight	9563	H6PD	OMIM:604931
HP:0004324	Increased body weight	154	ADRB2	OMIM:601665
HP:0004324	Increased body weight	155	ADRB3	OMIM:601665
HP:0004324	Increased body weight	5167	ENPP1	OMIM:601665
HP:0004324	Increased body weight	7352	UCP3	OMIM:601665
HP:0004324	Increased body weight	8431	NR0B2	OMIM:601665
HP:0004324	Increased body weight	9607	CARTPT	OMIM:601665
HP:0004324	Increased body weight	51738	GHRL	OMIM:601665
HP:0004324	Increased body weight	5468	PPARG	OMIM:601665
HP:0004324	Increased body weight	9672	SDC3	OMIM:601665
HP:0004324	Increased body weight	181	AGRP	OMIM:601665
HP:0004324	Increased body weight	23040	MYT1L	OMIM:616521
HP:0004324	Increased body weight	54361	WNT4	ORPHA:247768
HP:0004324	Increased body weight	91461	PKDCC	OMIM:618821
HP:0004324	Increased body weight	8087	FXR1	OMIM:618822
HP:0004324	Increased body weight	26047	CNTNAP2	ORPHA:163681
HP:0004324	Increased body weight	63932	STEEP1	OMIM:301013
HP:0004324	Increased body weight	213	ALB	ORPHA:86816
HP:0004324	Increased body weight	200894	ARL13B	OMIM:612291
HP:0004324	Increased body weight	51124	IER3IP1	OMIM:614231
HP:0004324	Increased body weight	23233	EXOC6B	OMIM:618395
HP:0004324	Increased body weight	8450	CUL4B	ORPHA:85293
HP:0004324	Increased body weight	5456	POU3F4	ORPHA:1435
HP:0004324	Increased body weight	627	BDNF	ORPHA:893
HP:0004324	Increased body weight	1512	CTSH	ORPHA:2073
HP:0004324	Increased body weight	5032	P2RY11	ORPHA:2073
HP:0004324	Increased body weight	4340	MOG	ORPHA:2073
HP:0004324	Increased body weight	4340	MOG	OMIM:614250
HP:0004324	Increased body weight	3119	HLA-DQB1	ORPHA:2073
HP:0004324	Increased body weight	3060	HCRT	ORPHA:2073
HP:0004324	Increased body weight	22891	ZNF365	ORPHA:2073
HP:0004324	Increased body weight	7292	TNFSF4	ORPHA:2073
HP:0004324	Increased body weight	3123	HLA-DRB1	ORPHA:2073
HP:0004324	Increased body weight	9320	TRIP12	OMIM:617752
HP:0004324	Increased body weight	1315	COPB1	OMIM:619255
HP:0004324	Increased body weight	51099	ABHD5	ORPHA:98907
HP:0004324	Increased body weight	51317	PHF21A	OMIM:618725
HP:0004324	Increased body weight	57104	PNPLA2	ORPHA:98908
HP:0004324	Increased body weight	1968	EIF2S3	ORPHA:85282
HP:0004324	Increased body weight	1968	EIF2S3	OMIM:300148
HP:0004324	Increased body weight	23102	TBC1D2B	ORPHA:397973
HP:0004324	Increased body weight	375056	MIA3	OMIM:619269
HP:0004324	Increased body weight	1806	DPYD	ORPHA:293948
HP:0004324	Increased body weight	109	ADCY3	OMIM:617885
HP:0004324	Increased body weight	6736	SRY	ORPHA:1772
HP:0004324	Increased body weight	57194	ATP10A	ORPHA:411515
HP:0004324	Increased body weight	6657	SOX2	ORPHA:3157
HP:0004324	Increased body weight	6658	SOX3	ORPHA:3157
HP:0004324	Increased body weight	5015	OTX2	ORPHA:3157
HP:0004324	Increased body weight	3767	KCNJ11	ORPHA:552
HP:0004324	Increased body weight	3767	KCNJ11	OMIM:601820
HP:0004324	Increased body weight	3767	KCNJ11	ORPHA:276580
HP:0004324	Increased body weight	3767	KCNJ11	ORPHA:79644
HP:0004324	Increased body weight	8462	KLF11	ORPHA:552
HP:0004324	Increased body weight	2645	GCK	ORPHA:552
HP:0004324	Increased body weight	26060	APPL1	ORPHA:552
HP:0004324	Increased body weight	640	BLK	ORPHA:552
HP:0004324	Increased body weight	1056	CEL	ORPHA:552
HP:0004324	Increased body weight	4760	NEUROD1	ORPHA:552
HP:0004324	Increased body weight	3651	PDX1	ORPHA:552
HP:0004324	Increased body weight	6833	ABCC8	ORPHA:552
HP:0004324	Increased body weight	6833	ABCC8	ORPHA:276575
HP:0004324	Increased body weight	6833	ABCC8	OMIM:256450
HP:0004324	Increased body weight	5078	PAX4	ORPHA:552
HP:0004324	Increased body weight	6927	HNF1A	ORPHA:552
HP:0004324	Increased body weight	6927	HNF1A	ORPHA:324575
HP:0004324	Increased body weight	3630	INS	ORPHA:552
HP:0004324	Increased body weight	2737	GLI3	ORPHA:672
HP:0004324	Increased body weight	129563	DIS3L2	OMIM:267000
HP:0004324	Increased body weight	4953	ODC1	OMIM:619075
HP:0004324	Increased body weight	4953	ODC1	ORPHA:544488
HP:0004324	Increased body weight	8036	SHOC2	OMIM:607721
HP:0004324	Increased body weight	8925	HERC1	OMIM:617011
HP:0004324	Increased body weight	8925	HERC1	ORPHA:457359
HP:0004324	Increased body weight	388015	RTL1	ORPHA:254534
HP:0004324	Increased body weight	388015	RTL1	ORPHA:96334
HP:0004324	Increased body weight	8788	DLK1	ORPHA:254534
HP:0004324	Increased body weight	8788	DLK1	ORPHA:96334
HP:0004324	Increased body weight	55384	MEG3	ORPHA:254534
HP:0004324	Increased body weight	55384	MEG3	ORPHA:96334
HP:0004324	Increased body weight	5728	PTEN	OMIM:605309
HP:0004324	Increased body weight	51604	PIGT	OMIM:615398
HP:0004324	Increased body weight	9158	FIBP	ORPHA:500095
HP:0004324	Increased body weight	9158	FIBP	OMIM:617107
HP:0004324	Increased body weight	6016	RIT1	OMIM:615355
HP:0004324	Increased body weight	84282	RNF135	ORPHA:137634
HP:0004324	Increased body weight	5894	RAF1	OMIM:611553
HP:0004324	Increased body weight	54499	TMCO1	OMIM:213980
HP:0004324	Increased body weight	274	BIN1	ORPHA:169189
HP:0004324	Increased body weight	64419	MTMR14	ORPHA:169189
HP:0004324	Increased body weight	4618	MYF6	ORPHA:169189
HP:0004324	Increased body weight	1785	DNM2	ORPHA:169189
HP:0004324	Increased body weight	6261	RYR1	ORPHA:169189
HP:0004324	Increased body weight	10060	ABCC9	OMIM:239850
HP:0004324	Increased body weight	23405	DICER1	OMIM:618272
HP:0004324	Increased body weight	79813	EHMT1	ORPHA:261652
HP:0004324	Increased body weight	58508	KMT2C	ORPHA:261652
HP:0004324	Increased body weight	288	ANK3	ORPHA:356996
HP:0004324	Increased body weight	23556	PIGN	OMIM:614080
HP:0004324	Increased body weight	9487	PIGL	OMIM:280000
HP:0004324	Increased body weight	51684	SUFU	OMIM:617757
HP:0004324	Increased body weight	208	AKT2	ORPHA:293964
HP:0004324	Increased body weight	208	AKT2	OMIM:240900
HP:0004324	Increased body weight	80173	IFT74	OMIM:617119
HP:0004324	Increased body weight	5727	PTCH1	ORPHA:77301
HP:0004324	Increased body weight	1910	EDNRB	OMIM:600501
HP:0004324	Increased body weight	5277	PIGA	OMIM:300868
HP:0004324	Increased body weight	3340	NDST1	OMIM:616116
HP:0004324	Increased body weight	2475	MTOR	ORPHA:457485
HP:0004324	Increased body weight	2475	MTOR	OMIM:616638
HP:0004324	Increased body weight	7351	UCP2	ORPHA:276556
HP:0004324	Increased body weight	6654	SOS1	OMIM:610733
HP:0004324	Increased body weight	23476	BRD4	ORPHA:199
HP:0004324	Increased body weight	9126	SMC3	ORPHA:199
HP:0004324	Increased body weight	8243	SMC1A	ORPHA:199
HP:0004324	Increased body weight	25836	NIPBL	ORPHA:199
HP:0004324	Increased body weight	55869	HDAC8	ORPHA:199
HP:0004324	Increased body weight	55869	HDAC8	OMIM:300882
HP:0004324	Increased body weight	55869	HDAC8	ORPHA:3459
HP:0004324	Increased body weight	5885	RAD21	ORPHA:199
HP:0004324	Increased body weight	3479	IGF1	ORPHA:73272
HP:0004324	Increased body weight	7840	ALMS1	ORPHA:64
HP:0004324	Increased body weight	7840	ALMS1	OMIM:203800
HP:0004324	Increased body weight	11253	MAN1B1	ORPHA:397941
HP:0004324	Increased body weight	11253	MAN1B1	OMIM:614202
HP:0004324	Increased body weight	23394	ADNP	ORPHA:404448
HP:0004324	Increased body weight	23394	ADNP	OMIM:615873
HP:0004324	Increased body weight	1387	CREBBP	OMIM:180849
HP:0004324	Increased body weight	2033	EP300	OMIM:180849
HP:0004324	Increased body weight	26137	ZBTB20	OMIM:259050
HP:0004324	Increased body weight	755	CFAP410	OMIM:617547
HP:0004324	Increased body weight	81887	LAS1L	ORPHA:3459
HP:0004324	Increased body weight	55599	RNPC3	OMIM:618160
HP:0004324	Increased body weight	83696	TRAPPC9	OMIM:613192
HP:0004324	Increased body weight	2332	FMR1	ORPHA:261483
HP:0004324	Increased body weight	7518	XRCC4	OMIM:616541
HP:0004324	Increased body weight	84068	SLC10A7	OMIM:618363
HP:0004324	Increased body weight	3483	IGFALS	ORPHA:140941
HP:0004324	Increased body weight	5116	PCNT	ORPHA:2637
HP:0004324	Increased body weight	5116	PCNT	OMIM:210720
HP:0004324	Increased body weight	9149	DYRK1B	OMIM:615812
HP:0004324	Increased body weight	64131	XYLT1	OMIM:615777
HP:0004324	Increased body weight	64131	XYLT1	ORPHA:370930
HP:0004324	Increased body weight	84100	ARL6	OMIM:209900
HP:0004324	Increased body weight	79140	CCDC28B	OMIM:209900
HP:0004324	Increased body weight	582	BBS1	OMIM:209900
HP:0004324	Increased body weight	51322	WAC	ORPHA:466950
HP:0004324	Increased body weight	84295	PHF6	ORPHA:127
HP:0004324	Increased body weight	9056	SLC7A7	OMIM:222700
HP:0004324	Increased body weight	5718	PSMD12	ORPHA:529962
HP:0004324	Increased body weight	2186	BPTF	ORPHA:529962
HP:0004324	Increased body weight	2702	GJA5	OMIM:612474
HP:0004324	Increased body weight	2703	GJA8	OMIM:612474
HP:0004324	Increased body weight	27241	BBS9	OMIM:615986
HP:0004324	Increased body weight	3480	IGF1R	OMIM:270450
HP:0004324	Increased body weight	2690	GHR	ORPHA:633
HP:0004324	Increased body weight	84196	USP48	ORPHA:96253
HP:0004324	Increased body weight	7157	TP53	ORPHA:96253
HP:0004324	Increased body weight	7157	TP53	ORPHA:1501
HP:0004324	Increased body weight	9101	USP8	ORPHA:96253
HP:0004324	Increased body weight	64072	CDH23	ORPHA:96253
HP:0004324	Increased body weight	2908	NR3C1	ORPHA:96253
HP:0004324	Increased body weight	673	BRAF	ORPHA:96253
HP:0004324	Increased body weight	546	ATRX	ORPHA:96253
HP:0004324	Increased body weight	64324	NSD1	OMIM:117550
HP:0004324	Increased body weight	10743	RAI1	OMIM:182290
HP:0004324	Increased body weight	5566	PRKACA	OMIM:615830
HP:0004324	Increased body weight	5566	PRKACA	ORPHA:189439
HP:0004324	Increased body weight	8622	PDE8B	ORPHA:189439
HP:0004324	Increased body weight	5573	PRKAR1A	ORPHA:189439
HP:0004324	Increased body weight	5573	PRKAR1A	ORPHA:1501
HP:0004324	Increased body weight	5573	PRKAR1A	ORPHA:1359
HP:0004324	Increased body weight	50940	PDE11A	ORPHA:189439
HP:0004324	Increased body weight	50940	PDE11A	ORPHA:1359
HP:0004324	Increased body weight	54551	MAGEL2	ORPHA:398069
HP:0004324	Increased body weight	540	ATP7B	ORPHA:905
HP:0004324	Increased body weight	5257	PHKB	ORPHA:79240
HP:0004324	Increased body weight	79798	ARMC5	OMIM:615954
HP:0004324	Increased body weight	79798	ARMC5	ORPHA:189427
HP:0004324	Increased body weight	7068	THRB	OMIM:274300
HP:0004324	Increased body weight	4221	MEN1	ORPHA:97279
HP:0004324	Increased body weight	7528	YY1	ORPHA:97279
HP:0004324	Increased body weight	84133	ZNRF3	ORPHA:1501
HP:0004324	Increased body weight	1499	CTNNB1	ORPHA:1501
HP:0004324	Increased body weight	1029	CDKN2A	ORPHA:1501
HP:0004324	Increased body weight	7015	TERT	ORPHA:1501
HP:0004324	Increased body weight	7319	UBE2A	OMIM:300860
HP:0004324	Increased body weight	3172	HNF4A	ORPHA:263455
HP:0004324	Increased body weight	55023	PHIP	ORPHA:589905
HP:0004324	Increased body weight	5256	PHKA2	ORPHA:264580
HP:0004324	Increased body weight	5261	PHKG2	ORPHA:264580
HP:0004324	Increased body weight	7067	THRA	OMIM:614450
HP:0004324	Increased body weight	2778	GNAS	ORPHA:189427
HP:0004324	Increased body weight	3075	CFH	ORPHA:244242
HP:0004324	Increased body weight	3426	CFI	ORPHA:244242
HP:0004324	Increased body weight	4179	CD46	ORPHA:244242
HP:0004324	Increased body weight	101101692	HELLPAR	ORPHA:244242
HP:0004324	Increased body weight	5122	PCSK1	ORPHA:71528
HP:0004324	Increased body weight	4160	MC4R	ORPHA:71529
HP:0004324	Increased body weight	56623	INPP5E	OMIM:610156
HP:0004324	Increased body weight	5443	POMC	ORPHA:71526
HP:0004324	Increased body weight	157680	VPS13B	OMIM:216550
HP:0004324	Increased body weight	641	BLM	ORPHA:125
HP:0004324	Increased body weight	3991	LIPE	OMIM:615980
HP:0004324	Increased body weight	79576	NKAP	OMIM:301039
HP:0004324	Increased body weight	8882	ZPR1	OMIM:619321
HP:0004324	Increased body weight	54805	CNNM2	OMIM:616418
HP:0004324	Increased body weight	84679	SLC9A7	OMIM:301024
HP:0004324	Increased body weight	10717	AP4B1	ORPHA:280763
HP:0004324	Increased body weight	10717	AP4B1	OMIM:614066
HP:0004324	Increased body weight	9179	AP4M1	ORPHA:280763
HP:0004324	Increased body weight	11154	AP4S1	ORPHA:280763
HP:0004324	Increased body weight	23431	AP4E1	ORPHA:280763
HP:0004324	Increased body weight	23431	AP4E1	OMIM:613744
HP:0004324	Increased body weight	57551	TAOK1	OMIM:619575
HP:0004324	Increased body weight	7874	USP7	ORPHA:500055
HP:0004324	Increased body weight	55870	ASH1L	OMIM:617796
HP:0004324	Increased body weight	57680	CHD8	OMIM:615032
HP:0004324	Increased body weight	146862	UNC45B	OMIM:619178
HP:0004324	Increased body weight	6711	SPTBN1	OMIM:619475
HP:0004324	Increased body weight	5626	PROP1	ORPHA:226307
HP:0004324	Increased body weight	89884	LHX4	ORPHA:226307
HP:0004324	Increased body weight	8022	LHX3	ORPHA:226307
HP:0004324	Increased body weight	5449	POU1F1	ORPHA:226307
HP:0004324	Increased body weight	8820	HESX1	ORPHA:226307
HP:0004324	Increased body weight	22859	ADGRL1	OMIM:620065
HP:0004324	Increased body weight	7201	TRHR	ORPHA:99832
HP:0004324	Increased body weight	37	ACADVL	ORPHA:26793
HP:0004324	Increased body weight	1513	CTSK	ORPHA:763
HP:0004324	Increased body weight	5244	ABCB4	ORPHA:69663
HP:0004324	Increased body weight	27086	FOXP1	ORPHA:391372
HP:0004324	Increased body weight	219854	TMEM218	OMIM:619562
HP:0004324	Increased body weight	3547	IGSF1	OMIM:300888
HP:0004324	Increased body weight	80208	SPG11	ORPHA:2822
HP:0004324	Increased body weight	23590	PDSS1	OMIM:614651
HP:0004324	Increased body weight	6304	SATB1	OMIM:619229
HP:0004324	Increased body weight	157657	CFAP418	OMIM:617406
HP:0004324	Increased body weight	57187	THOC2	ORPHA:457240
HP:0004324	Increased body weight	51341	ZBTB7A	OMIM:619769
HP:0004324	Increased body weight	9325	TRIP4	ORPHA:486815
HP:0045084	Limb myoclonus	154881	KCTD7	ORPHA:263516
HP:0045084	Limb myoclonus	5621	PRNP	ORPHA:356
HP:0045084	Limb myoclonus	6792	CDKL5	ORPHA:3095
HP:0045084	Limb myoclonus	22854	NTNG1	ORPHA:3095
HP:0045084	Limb myoclonus	9568	GABBR2	ORPHA:3095
HP:0045084	Limb myoclonus	4204	MECP2	ORPHA:3095
HP:0045084	Limb myoclonus	8243	SMC1A	ORPHA:3095
HP:0045084	Limb myoclonus	427	ASAH1	ORPHA:2590
HP:0045084	Limb myoclonus	1813	DRD2	ORPHA:36899
HP:0045084	Limb myoclonus	8910	SGCE	ORPHA:36899
HP:0045084	Limb myoclonus	79734	KCTD17	ORPHA:36899
HP:0045084	Limb myoclonus	1861	TOR1A	ORPHA:36899
HP:0045084	Limb myoclonus	3785	KCNQ2	ORPHA:1949
HP:0045084	Limb myoclonus	3785	KCNQ2	ORPHA:306
HP:0045084	Limb myoclonus	3786	KCNQ3	ORPHA:1949
HP:0045084	Limb myoclonus	3786	KCNQ3	ORPHA:306
HP:0045084	Limb myoclonus	6513	SLC2A1	ORPHA:64280
HP:0045084	Limb myoclonus	2562	GABRB3	ORPHA:64280
HP:0045084	Limb myoclonus	2554	GABRA1	ORPHA:64280
HP:0045084	Limb myoclonus	8912	CACNA1H	ORPHA:64280
HP:0045084	Limb myoclonus	8629	JRK	ORPHA:64280
HP:0045084	Limb myoclonus	2566	GABRG2	ORPHA:64280
HP:0045084	Limb myoclonus	10935	PRDX3	OMIM:619862
HP:0045084	Limb myoclonus	215	ABCD1	ORPHA:139396
HP:0045084	Limb myoclonus	6334	SCN8A	OMIM:618364
HP:0045084	Limb myoclonus	6334	SCN8A	ORPHA:306
HP:0045084	Limb myoclonus	10815	CPLX1	ORPHA:352582
HP:0045084	Limb myoclonus	57465	TBC1D24	ORPHA:352582
HP:0045084	Limb myoclonus	4137	MAPT	ORPHA:240103
HP:0045084	Limb myoclonus	6326	SCN2A	ORPHA:306
HP:0045084	Limb myoclonus	112476	PRRT2	ORPHA:306
HP:0045084	Limb myoclonus	10528	NOP56	ORPHA:276198
HP:0045086	Knee joint hypermobility	1311	COMP	ORPHA:750
HP:0045086	Knee joint hypermobility	1311	COMP	ORPHA:93308
HP:0045086	Knee joint hypermobility	4010	LMX1B	ORPHA:2614
HP:0045086	Knee joint hypermobility	2261	FGFR3	ORPHA:15
HP:0045086	Knee joint hypermobility	4210	MEFV	ORPHA:329967
HP:0045086	Knee joint hypermobility	7132	TNFRSF1A	ORPHA:329967
HP:0045087	Hip joint hypermobility	2261	FGFR3	ORPHA:15
HP:0006500	Abnormality of lower limb epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0006500	Abnormality of lower limb epiphysis morphology	3835	KIF22	OMIM:603546
HP:0006500	Abnormality of lower limb epiphysis morphology	9742	IFT140	OMIM:266920
HP:0006500	Abnormality of lower limb epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0006500	Abnormality of lower limb epiphysis morphology	2720	GLB1	OMIM:253010
HP:0006500	Abnormality of lower limb epiphysis morphology	9469	CHST3	OMIM:143095
HP:0006500	Abnormality of lower limb epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0006500	Abnormality of lower limb epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0006500	Abnormality of lower limb epiphysis morphology	50485	SMARCAL1	OMIM:242900
HP:0006500	Abnormality of lower limb epiphysis morphology	124583	CANT1	OMIM:617719
HP:0006500	Abnormality of lower limb epiphysis morphology	9382	COG1	OMIM:611209
HP:0006500	Abnormality of lower limb epiphysis morphology	990	CDC6	OMIM:613805
HP:0006500	Abnormality of lower limb epiphysis morphology	54808	DYM	ORPHA:239
HP:0006500	Abnormality of lower limb epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0006500	Abnormality of lower limb epiphysis morphology	1836	SLC26A2	OMIM:226900
HP:0006500	Abnormality of lower limb epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0006500	Abnormality of lower limb epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0006500	Abnormality of lower limb epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0006500	Abnormality of lower limb epiphysis morphology	8838	CCN6	ORPHA:1159
HP:0006500	Abnormality of lower limb epiphysis morphology	176	ACAN	OMIM:608361
HP:0006500	Abnormality of lower limb epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0006500	Abnormality of lower limb epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0006500	Abnormality of lower limb epiphysis morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0006500	Abnormality of lower limb epiphysis morphology	5830	PEX5	OMIM:616716
HP:0006500	Abnormality of lower limb epiphysis morphology	538	ATP7A	ORPHA:198
HP:0006500	Abnormality of lower limb epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0006500	Abnormality of lower limb epiphysis morphology	26277	TINF2	OMIM:613990
HP:0006500	Abnormality of lower limb epiphysis morphology	91754	NEK9	OMIM:614262
HP:0006500	Abnormality of lower limb epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0006500	Abnormality of lower limb epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0006500	Abnormality of lower limb epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0006500	Abnormality of lower limb epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0006500	Abnormality of lower limb epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0006500	Abnormality of lower limb epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0006500	Abnormality of lower limb epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0006500	Abnormality of lower limb epiphysis morphology	2335	FN1	ORPHA:93315
HP:0006500	Abnormality of lower limb epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0006500	Abnormality of lower limb epiphysis morphology	9719	ADAMTSL2	ORPHA:1901
HP:0006500	Abnormality of lower limb epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0006500	Abnormality of lower limb epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0006500	Abnormality of lower limb epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0006500	Abnormality of lower limb epiphysis morphology	2131	EXT1	ORPHA:502
HP:0006500	Abnormality of lower limb epiphysis morphology	7227	TRPS1	ORPHA:502
HP:0006500	Abnormality of lower limb epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0006500	Abnormality of lower limb epiphysis morphology	7227	TRPS1	OMIM:190351
HP:0006500	Abnormality of lower limb epiphysis morphology	7227	TRPS1	ORPHA:77258
HP:0006500	Abnormality of lower limb epiphysis morphology	55325	UFSP2	OMIM:142669
HP:0006500	Abnormality of lower limb epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0006500	Abnormality of lower limb epiphysis morphology	59341	TRPV4	OMIM:617383
HP:0006500	Abnormality of lower limb epiphysis morphology	1311	COMP	OMIM:132400
HP:0006500	Abnormality of lower limb epiphysis morphology	1311	COMP	ORPHA:93308
HP:0006500	Abnormality of lower limb epiphysis morphology	2033	EP300	ORPHA:353284
HP:0006500	Abnormality of lower limb epiphysis morphology	10847	SRCAP	ORPHA:2044
HP:0006500	Abnormality of lower limb epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0006500	Abnormality of lower limb epiphysis morphology	64374	SIL1	ORPHA:559
HP:0006500	Abnormality of lower limb epiphysis morphology	51763	INPP5K	ORPHA:559
HP:0006500	Abnormality of lower limb epiphysis morphology	1278	COL1A2	ORPHA:1899
HP:0006500	Abnormality of lower limb epiphysis morphology	1277	COL1A1	ORPHA:1899
HP:0006500	Abnormality of lower limb epiphysis morphology	6137	RPL13	OMIM:618728
HP:0006500	Abnormality of lower limb epiphysis morphology	1297	COL9A1	OMIM:614135
HP:0006500	Abnormality of lower limb epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0006500	Abnormality of lower limb epiphysis morphology	89970	RSPRY1	OMIM:616723
HP:0006500	Abnormality of lower limb epiphysis morphology	5979	RET	OMIM:162300
HP:0006500	Abnormality of lower limb epiphysis morphology	2972	BRF1	OMIM:616202
HP:0006500	Abnormality of lower limb epiphysis morphology	5116	PCNT	OMIM:210720
HP:0006500	Abnormality of lower limb epiphysis morphology	51119	SBDS	OMIM:260400
HP:0006500	Abnormality of lower limb epiphysis morphology	51119	SBDS	ORPHA:811
HP:0006500	Abnormality of lower limb epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006500	Abnormality of lower limb epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0006500	Abnormality of lower limb epiphysis morphology	6729	SRP54	OMIM:260400
HP:0006500	Abnormality of lower limb epiphysis morphology	6729	SRP54	ORPHA:811
HP:0006500	Abnormality of lower limb epiphysis morphology	79631	EFL1	ORPHA:811
HP:0006500	Abnormality of lower limb epiphysis morphology	3339	HSPG2	OMIM:255800
HP:0006500	Abnormality of lower limb epiphysis morphology	1280	COL2A1	ORPHA:166011
HP:0006500	Abnormality of lower limb epiphysis morphology	9496	TBX4	OMIM:147891
HP:0006500	Abnormality of lower limb epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0006500	Abnormality of lower limb epiphysis morphology	3549	IHH	OMIM:607778
HP:0006500	Abnormality of lower limb epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006500	Abnormality of lower limb epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006500	Abnormality of lower limb epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0006500	Abnormality of lower limb epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0006500	Abnormality of lower limb epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0006500	Abnormality of lower limb epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0006500	Abnormality of lower limb epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0006500	Abnormality of lower limb epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	7038	TG	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	7173	TPO	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	389434	IYD	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0006500	Abnormality of lower limb epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0006500	Abnormality of lower limb epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0006500	Abnormality of lower limb epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0006500	Abnormality of lower limb epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0006500	Abnormality of lower limb epiphysis morphology	415	ARSL	ORPHA:79345
HP:0006500	Abnormality of lower limb epiphysis morphology	60561	RINT1	OMIM:618641
HP:0006500	Abnormality of lower limb epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0006500	Abnormality of lower limb epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0006500	Abnormality of lower limb epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0006500	Abnormality of lower limb epiphysis morphology	388015	RTL1	ORPHA:96334
HP:0006500	Abnormality of lower limb epiphysis morphology	8788	DLK1	ORPHA:96334
HP:0006500	Abnormality of lower limb epiphysis morphology	55384	MEG3	ORPHA:96334
HP:0006500	Abnormality of lower limb epiphysis morphology	23102	TBC1D2B	ORPHA:397973
HP:0006501	Aplasia/Hypoplasia of the radius	9935	MAFB	ORPHA:233
HP:0006501	Aplasia/Hypoplasia of the radius	1123	CHN1	ORPHA:233
HP:0006501	Aplasia/Hypoplasia of the radius	5573	PRKAR1A	ORPHA:950
HP:0006501	Aplasia/Hypoplasia of the radius	5144	PDE4D	ORPHA:950
HP:0006501	Aplasia/Hypoplasia of the radius	8200	GDF5	OMIM:200700
HP:0006501	Aplasia/Hypoplasia of the radius	8200	GDF5	OMIM:201250
HP:0006501	Aplasia/Hypoplasia of the radius	4882	NPR2	OMIM:602875
HP:0006501	Aplasia/Hypoplasia of the radius	28981	IFT81	OMIM:617895
HP:0006501	Aplasia/Hypoplasia of the radius	2263	FGFR2	OMIM:149730
HP:0006501	Aplasia/Hypoplasia of the radius	2263	FGFR2	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	157570	ESCO2	ORPHA:3103
HP:0006501	Aplasia/Hypoplasia of the radius	157570	ESCO2	ORPHA:2319
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	OMIM:127300
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	OMIM:249700
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	ORPHA:240
HP:0006501	Aplasia/Hypoplasia of the radius	1723	DHODH	OMIM:263750
HP:0006501	Aplasia/Hypoplasia of the radius	1723	DHODH	ORPHA:246
HP:0006501	Aplasia/Hypoplasia of the radius	92002	CCNQ	ORPHA:140952
HP:0006501	Aplasia/Hypoplasia of the radius	2261	FGFR3	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	2255	FGF10	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	4038	LRP4	ORPHA:3258
HP:0006501	Aplasia/Hypoplasia of the radius	4038	LRP4	OMIM:212780
HP:0006501	Aplasia/Hypoplasia of the radius	324	APC	ORPHA:3258
HP:0006501	Aplasia/Hypoplasia of the radius	4920	ROR2	OMIM:268310
HP:0006501	Aplasia/Hypoplasia of the radius	9321	TRIP11	OMIM:200600
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	OMIM:228930
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	ORPHA:2879
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	OMIM:276820
HP:0006501	Aplasia/Hypoplasia of the radius	25836	NIPBL	OMIM:122470
HP:0006501	Aplasia/Hypoplasia of the radius	6223	RPS19	OMIM:105650
HP:0006501	Aplasia/Hypoplasia of the radius	79087	ALG12	OMIM:607143
HP:0006501	Aplasia/Hypoplasia of the radius	6926	TBX3	OMIM:181450
HP:0006501	Aplasia/Hypoplasia of the radius	3549	IHH	OMIM:607778
HP:0006501	Aplasia/Hypoplasia of the radius	9775	EIF4A3	OMIM:268305
HP:0006501	Aplasia/Hypoplasia of the radius	29980	DONSON	OMIM:617604
HP:0006501	Aplasia/Hypoplasia of the radius	2317	FLNB	ORPHA:56305
HP:0006501	Aplasia/Hypoplasia of the radius	2317	FLNB	OMIM:112310
HP:0006501	Aplasia/Hypoplasia of the radius	7547	ZIC3	OMIM:314390
HP:0006501	Aplasia/Hypoplasia of the radius	54101	RIPK4	OMIM:263650
HP:0006501	Aplasia/Hypoplasia of the radius	55636	CHD7	OMIM:214800
HP:0006501	Aplasia/Hypoplasia of the radius	2737	GLI3	ORPHA:93322
HP:0006501	Aplasia/Hypoplasia of the radius	9939	RBM8A	OMIM:274000
HP:0006501	Aplasia/Hypoplasia of the radius	545	ATR	OMIM:210600
HP:0006501	Aplasia/Hypoplasia of the radius	27125	AFF4	ORPHA:444077
HP:0006501	Aplasia/Hypoplasia of the radius	8241	RBM10	ORPHA:2886
HP:0006501	Aplasia/Hypoplasia of the radius	5980	REV3L	ORPHA:570
HP:0006501	Aplasia/Hypoplasia of the radius	23129	PLXND1	ORPHA:570
HP:0006501	Aplasia/Hypoplasia of the radius	4318	MMP9	ORPHA:1040
HP:0006501	Aplasia/Hypoplasia of the radius	4322	MMP13	ORPHA:1040
HP:0006501	Aplasia/Hypoplasia of the radius	6910	TBX5	ORPHA:392
HP:0006501	Aplasia/Hypoplasia of the radius	9401	RECQL4	ORPHA:1225
HP:0006501	Aplasia/Hypoplasia of the radius	9401	RECQL4	OMIM:266280
HP:0006501	Aplasia/Hypoplasia of the radius	7140	TNNT3	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	4621	MYH3	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	7169	TPM2	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	259232	NALCN	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	7136	TNNI2	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	672	BRCA1	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	10459	MAD2L2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	7516	XRCC2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	29089	UBE2T	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	675	BRCA2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55120	FANCL	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2177	FANCD2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2175	FANCA	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2187	FANCB	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2176	FANCC	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2178	FANCE	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2188	FANCF	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2189	FANCG	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	5888	RAD51	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	5889	RAD51C	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55159	RFWD3	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	83990	BRIP1	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	57697	FANCM	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	79728	PALB2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	84464	SLX4	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2072	ERCC4	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55215	FANCI	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	7040	TGFB1	ORPHA:1328
HP:0006501	Aplasia/Hypoplasia of the radius	10262	SF3B4	ORPHA:1788
HP:0006501	Aplasia/Hypoplasia of the radius	10262	SF3B4	ORPHA:245
HP:0006501	Aplasia/Hypoplasia of the radius	3239	HOXD13	ORPHA:887
HP:0006501	Aplasia/Hypoplasia of the radius	60681	FKBP10	ORPHA:1149
HP:0006501	Aplasia/Hypoplasia of the radius	2260	FGFR1	ORPHA:2117
HP:0006501	Aplasia/Hypoplasia of the radius	9555	MACROH2A1	ORPHA:1275
HP:0006501	Aplasia/Hypoplasia of the radius	5307	PITX1	ORPHA:1275
HP:0006501	Aplasia/Hypoplasia of the radius	57167	SALL4	ORPHA:959
HP:0006501	Aplasia/Hypoplasia of the radius	1717	DHCR7	ORPHA:818
HP:0006501	Aplasia/Hypoplasia of the radius	64327	LMBR1	ORPHA:93321
HP:0006501	Aplasia/Hypoplasia of the radius	6469	SHH	ORPHA:93321
HP:0006501	Aplasia/Hypoplasia of the radius	6154	RPL26	OMIM:614900
HP:0006501	Aplasia/Hypoplasia of the radius	7204	TRIO	ORPHA:476126
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1311	COMP	OMIM:177170
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	54808	DYM	OMIM:223800
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	59341	TRPV4	OMIM:184252
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	59341	TRPV4	ORPHA:93314
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	3835	KIF22	OMIM:603546
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	9451	EIF2AK3	OMIM:226980
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	23233	EXOC6B	OMIM:618395
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	89970	RSPRY1	ORPHA:457395
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	89970	RSPRY1	OMIM:616723
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	57167	SALL4	OMIM:147750
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	54187	NANS	OMIM:610442
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	79158	GNPTAB	OMIM:252600
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	79158	GNPTAB	OMIM:252500
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	9939	RBM8A	OMIM:274000
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	5832	ALDH18A1	OMIM:601162
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	9401	RECQL4	OMIM:218600
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	64327	LMBR1	OMIM:200500
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	7476	WNT7A	OMIM:276820
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	7516	XRCC2	OMIM:617247
HP:0006503	Aplasia/hypoplasia involving forearm bones	4882	NPR2	OMIM:602875
HP:0006503	Aplasia/hypoplasia involving forearm bones	28981	IFT81	OMIM:617895
HP:0006503	Aplasia/hypoplasia involving forearm bones	92002	CCNQ	ORPHA:140952
HP:0006503	Aplasia/hypoplasia involving forearm bones	2261	FGFR3	ORPHA:2363
HP:0006503	Aplasia/hypoplasia involving forearm bones	2255	FGF10	ORPHA:2363
HP:0006503	Aplasia/hypoplasia involving forearm bones	9321	TRIP11	OMIM:200600
HP:0006503	Aplasia/hypoplasia involving forearm bones	25836	NIPBL	OMIM:122470
HP:0006503	Aplasia/hypoplasia involving forearm bones	6223	RPS19	OMIM:105650
HP:0006503	Aplasia/hypoplasia involving forearm bones	79087	ALG12	OMIM:607143
HP:0006503	Aplasia/hypoplasia involving forearm bones	9775	EIF4A3	OMIM:268305
HP:0006503	Aplasia/hypoplasia involving forearm bones	1280	COL2A1	OMIM:271700
HP:0006503	Aplasia/hypoplasia involving forearm bones	1280	COL2A1	ORPHA:1856
HP:0006503	Aplasia/hypoplasia involving forearm bones	5573	PRKAR1A	ORPHA:950
HP:0006503	Aplasia/hypoplasia involving forearm bones	5144	PDE4D	ORPHA:950
HP:0006503	Aplasia/hypoplasia involving forearm bones	8200	GDF5	OMIM:200700
HP:0006503	Aplasia/hypoplasia involving forearm bones	8200	GDF5	ORPHA:93388
HP:0006503	Aplasia/hypoplasia involving forearm bones	8200	GDF5	OMIM:201250
HP:0006503	Aplasia/hypoplasia involving forearm bones	79659	DYNC2H1	OMIM:613091
HP:0006503	Aplasia/hypoplasia involving forearm bones	51604	PIGT	OMIM:615398
HP:0006503	Aplasia/hypoplasia involving forearm bones	57167	SALL4	OMIM:147750
HP:0006503	Aplasia/hypoplasia involving forearm bones	57167	SALL4	OMIM:607323
HP:0006503	Aplasia/hypoplasia involving forearm bones	57167	SALL4	ORPHA:959
HP:0006503	Aplasia/hypoplasia involving forearm bones	2263	FGFR2	OMIM:149730
HP:0006503	Aplasia/hypoplasia involving forearm bones	9820	CUL7	ORPHA:2616
HP:0006503	Aplasia/hypoplasia involving forearm bones	23363	OBSL1	ORPHA:2616
HP:0006503	Aplasia/hypoplasia involving forearm bones	83987	CCDC8	ORPHA:2616
HP:0006503	Aplasia/hypoplasia involving forearm bones	6473	SHOX	OMIM:127300
HP:0006503	Aplasia/hypoplasia involving forearm bones	6473	SHOX	OMIM:249700
HP:0006503	Aplasia/hypoplasia involving forearm bones	6473	SHOX	ORPHA:240
HP:0006503	Aplasia/hypoplasia involving forearm bones	145258	GSC	OMIM:602471
HP:0006503	Aplasia/hypoplasia involving forearm bones	23233	EXOC6B	OMIM:618395
HP:0006503	Aplasia/hypoplasia involving forearm bones	1723	DHODH	OMIM:263750
HP:0006503	Aplasia/hypoplasia involving forearm bones	1723	DHODH	ORPHA:246
HP:0006503	Aplasia/hypoplasia involving forearm bones	182	JAG1	OMIM:118450
HP:0006503	Aplasia/hypoplasia involving forearm bones	4038	LRP4	ORPHA:3258
HP:0006503	Aplasia/hypoplasia involving forearm bones	4038	LRP4	OMIM:212780
HP:0006503	Aplasia/hypoplasia involving forearm bones	324	APC	ORPHA:3258
HP:0006503	Aplasia/hypoplasia involving forearm bones	3549	IHH	ORPHA:93388
HP:0006503	Aplasia/hypoplasia involving forearm bones	3549	IHH	OMIM:607778
HP:0006503	Aplasia/hypoplasia involving forearm bones	658	BMPR1B	ORPHA:93388
HP:0006503	Aplasia/hypoplasia involving forearm bones	658	BMPR1B	OMIM:609441
HP:0006503	Aplasia/hypoplasia involving forearm bones	57020	VPS35L	OMIM:619135
HP:0006503	Aplasia/hypoplasia involving forearm bones	9469	CHST3	OMIM:143095
HP:0006503	Aplasia/hypoplasia involving forearm bones	672	BRCA1	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	10459	MAD2L2	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	7516	XRCC2	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	29089	UBE2T	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	675	BRCA2	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	55120	FANCL	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2177	FANCD2	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2175	FANCA	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2187	FANCB	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2176	FANCC	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2178	FANCE	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2188	FANCF	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2189	FANCG	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	5888	RAD51	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	5889	RAD51C	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	55159	RFWD3	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	83990	BRIP1	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	57697	FANCM	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	79728	PALB2	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	84464	SLX4	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	2072	ERCC4	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	55215	FANCI	ORPHA:84
HP:0006503	Aplasia/hypoplasia involving forearm bones	9939	RBM8A	OMIM:274000
HP:0006503	Aplasia/hypoplasia involving forearm bones	9241	NOG	OMIM:186500
HP:0006503	Aplasia/hypoplasia involving forearm bones	9401	RECQL4	OMIM:218600
HP:0006503	Aplasia/hypoplasia involving forearm bones	567	B2M	OMIM:241600
HP:0006503	Aplasia/hypoplasia involving forearm bones	55636	CHD7	OMIM:214800
HP:0006503	Aplasia/hypoplasia involving forearm bones	9935	MAFB	ORPHA:233
HP:0006503	Aplasia/hypoplasia involving forearm bones	1123	CHN1	ORPHA:233
HP:0006503	Aplasia/hypoplasia involving forearm bones	7547	ZIC3	OMIM:314390
HP:0006503	Aplasia/hypoplasia involving forearm bones	54101	RIPK4	OMIM:263650
HP:0006503	Aplasia/hypoplasia involving forearm bones	2737	GLI3	ORPHA:93322
HP:0006503	Aplasia/hypoplasia involving forearm bones	157570	ESCO2	OMIM:268300
HP:0006503	Aplasia/hypoplasia involving forearm bones	6910	TBX5	OMIM:142900
HP:0006503	Aplasia/hypoplasia involving forearm bones	7476	WNT7A	ORPHA:2879
HP:0006503	Aplasia/hypoplasia involving forearm bones	7476	WNT7A	OMIM:276820
HP:0006503	Aplasia/hypoplasia involving forearm bones	64327	LMBR1	OMIM:200500
HP:0006503	Aplasia/hypoplasia involving forearm bones	64327	LMBR1	ORPHA:931
HP:0006503	Aplasia/hypoplasia involving forearm bones	6926	TBX3	OMIM:181450
HP:0006503	Aplasia/hypoplasia involving forearm bones	91179	SCARF2	OMIM:600920
HP:0006503	Aplasia/hypoplasia involving forearm bones	4920	ROR2	OMIM:268310
HP:0006503	Aplasia/hypoplasia involving forearm bones	545	ATR	OMIM:210600
HP:0006503	Aplasia/hypoplasia involving forearm bones	27125	AFF4	ORPHA:444077
HP:0006503	Aplasia/hypoplasia involving forearm bones	8241	RBM10	ORPHA:2886
HP:0006503	Aplasia/hypoplasia involving forearm bones	727857	BHLHA9	ORPHA:3329
HP:0006503	Aplasia/hypoplasia involving forearm bones	727857	BHLHA9	ORPHA:1986
HP:0006503	Aplasia/hypoplasia involving forearm bones	2317	FLNB	OMIM:108720
HP:0006503	Aplasia/hypoplasia involving forearm bones	10262	SF3B4	ORPHA:1788
HP:0006503	Aplasia/hypoplasia involving forearm bones	5980	REV3L	ORPHA:570
HP:0006503	Aplasia/hypoplasia involving forearm bones	23129	PLXND1	ORPHA:570
HP:0006503	Aplasia/hypoplasia involving forearm bones	4318	MMP9	ORPHA:1040
HP:0006503	Aplasia/hypoplasia involving forearm bones	4322	MMP13	ORPHA:1040
HP:0006503	Aplasia/hypoplasia involving forearm bones	7140	TNNT3	ORPHA:1147
HP:0006503	Aplasia/hypoplasia involving forearm bones	4621	MYH3	ORPHA:1147
HP:0006503	Aplasia/hypoplasia involving forearm bones	7169	TPM2	ORPHA:1147
HP:0006503	Aplasia/hypoplasia involving forearm bones	259232	NALCN	ORPHA:1147
HP:0006503	Aplasia/hypoplasia involving forearm bones	7136	TNNI2	ORPHA:1147
HP:0006503	Aplasia/hypoplasia involving forearm bones	7040	TGFB1	ORPHA:1328
HP:0006503	Aplasia/hypoplasia involving forearm bones	3239	HOXD13	ORPHA:887
HP:0006503	Aplasia/hypoplasia involving forearm bones	60681	FKBP10	ORPHA:1149
HP:0006503	Aplasia/hypoplasia involving forearm bones	2260	FGFR1	ORPHA:2117
HP:0006503	Aplasia/hypoplasia involving forearm bones	9555	MACROH2A1	ORPHA:1275
HP:0006503	Aplasia/hypoplasia involving forearm bones	5307	PITX1	ORPHA:1275
HP:0006503	Aplasia/hypoplasia involving forearm bones	1717	DHCR7	ORPHA:818
HP:0006503	Aplasia/hypoplasia involving forearm bones	6469	SHH	ORPHA:93321
HP:0006503	Aplasia/hypoplasia involving forearm bones	2131	EXT1	ORPHA:321
HP:0006503	Aplasia/hypoplasia involving forearm bones	2132	EXT2	ORPHA:321
HP:0006503	Aplasia/hypoplasia involving forearm bones	29980	DONSON	OMIM:251230
HP:0006503	Aplasia/hypoplasia involving forearm bones	6154	RPL26	OMIM:614900
HP:0006503	Aplasia/hypoplasia involving forearm bones	7204	TRIO	ORPHA:476126
HP:0006505	Abnormal limb epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0006505	Abnormal limb epiphysis morphology	9742	IFT140	OMIM:266920
HP:0006505	Abnormal limb epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0006505	Abnormal limb epiphysis morphology	2720	GLB1	OMIM:253010
HP:0006505	Abnormal limb epiphysis morphology	9469	CHST3	OMIM:143095
HP:0006505	Abnormal limb epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0006505	Abnormal limb epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0006505	Abnormal limb epiphysis morphology	50485	SMARCAL1	OMIM:242900
HP:0006505	Abnormal limb epiphysis morphology	124583	CANT1	OMIM:617719
HP:0006505	Abnormal limb epiphysis morphology	9382	COG1	OMIM:611209
HP:0006505	Abnormal limb epiphysis morphology	990	CDC6	OMIM:613805
HP:0006505	Abnormal limb epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0006505	Abnormal limb epiphysis morphology	3835	KIF22	ORPHA:93360
HP:0006505	Abnormal limb epiphysis morphology	3835	KIF22	OMIM:603546
HP:0006505	Abnormal limb epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0006505	Abnormal limb epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0006505	Abnormal limb epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0006505	Abnormal limb epiphysis morphology	8838	CCN6	ORPHA:1159
HP:0006505	Abnormal limb epiphysis morphology	176	ACAN	OMIM:608361
HP:0006505	Abnormal limb epiphysis morphology	9496	TBX4	OMIM:147891
HP:0006505	Abnormal limb epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0006505	Abnormal limb epiphysis morphology	2317	FLNB	ORPHA:56305
HP:0006505	Abnormal limb epiphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0006505	Abnormal limb epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0006505	Abnormal limb epiphysis morphology	633	BGN	OMIM:300106
HP:0006505	Abnormal limb epiphysis morphology	54808	DYM	OMIM:223800
HP:0006505	Abnormal limb epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0006505	Abnormal limb epiphysis morphology	5830	PEX5	OMIM:616716
HP:0006505	Abnormal limb epiphysis morphology	538	ATP7A	ORPHA:198
HP:0006505	Abnormal limb epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0006505	Abnormal limb epiphysis morphology	26277	TINF2	OMIM:613990
HP:0006505	Abnormal limb epiphysis morphology	91754	NEK9	OMIM:614262
HP:0006505	Abnormal limb epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0006505	Abnormal limb epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0006505	Abnormal limb epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0006505	Abnormal limb epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0006505	Abnormal limb epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0006505	Abnormal limb epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0006505	Abnormal limb epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0006505	Abnormal limb epiphysis morphology	2335	FN1	ORPHA:93315
HP:0006505	Abnormal limb epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0006505	Abnormal limb epiphysis morphology	9719	ADAMTSL2	ORPHA:1901
HP:0006505	Abnormal limb epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0006505	Abnormal limb epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0006505	Abnormal limb epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0006505	Abnormal limb epiphysis morphology	2131	EXT1	ORPHA:502
HP:0006505	Abnormal limb epiphysis morphology	7227	TRPS1	ORPHA:502
HP:0006505	Abnormal limb epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0006505	Abnormal limb epiphysis morphology	7227	TRPS1	OMIM:190351
HP:0006505	Abnormal limb epiphysis morphology	7227	TRPS1	ORPHA:77258
HP:0006505	Abnormal limb epiphysis morphology	55325	UFSP2	OMIM:142669
HP:0006505	Abnormal limb epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0006505	Abnormal limb epiphysis morphology	59341	TRPV4	OMIM:617383
HP:0006505	Abnormal limb epiphysis morphology	1311	COMP	OMIM:132400
HP:0006505	Abnormal limb epiphysis morphology	1311	COMP	ORPHA:93308
HP:0006505	Abnormal limb epiphysis morphology	2033	EP300	ORPHA:353284
HP:0006505	Abnormal limb epiphysis morphology	10847	SRCAP	ORPHA:2044
HP:0006505	Abnormal limb epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0006505	Abnormal limb epiphysis morphology	64374	SIL1	ORPHA:559
HP:0006505	Abnormal limb epiphysis morphology	51763	INPP5K	ORPHA:559
HP:0006505	Abnormal limb epiphysis morphology	1278	COL1A2	ORPHA:1899
HP:0006505	Abnormal limb epiphysis morphology	1277	COL1A1	ORPHA:1899
HP:0006505	Abnormal limb epiphysis morphology	5447	POR	ORPHA:95699
HP:0006505	Abnormal limb epiphysis morphology	2121	EVC	OMIM:225500
HP:0006505	Abnormal limb epiphysis morphology	132884	EVC2	OMIM:225500
HP:0006505	Abnormal limb epiphysis morphology	2879	GPX4	OMIM:250220
HP:0006505	Abnormal limb epiphysis morphology	4256	MGP	OMIM:245150
HP:0006505	Abnormal limb epiphysis morphology	6299	SALL1	OMIM:107480
HP:0006505	Abnormal limb epiphysis morphology	3549	IHH	OMIM:112500
HP:0006505	Abnormal limb epiphysis morphology	6137	RPL13	OMIM:618728
HP:0006505	Abnormal limb epiphysis morphology	64135	IFIH1	OMIM:182250
HP:0006505	Abnormal limb epiphysis morphology	1297	COL9A1	OMIM:614135
HP:0006505	Abnormal limb epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0006505	Abnormal limb epiphysis morphology	89970	RSPRY1	OMIM:616723
HP:0006505	Abnormal limb epiphysis morphology	5979	RET	OMIM:162300
HP:0006505	Abnormal limb epiphysis morphology	2972	BRF1	OMIM:616202
HP:0006505	Abnormal limb epiphysis morphology	51119	SBDS	OMIM:260400
HP:0006505	Abnormal limb epiphysis morphology	51119	SBDS	ORPHA:811
HP:0006505	Abnormal limb epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006505	Abnormal limb epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0006505	Abnormal limb epiphysis morphology	6729	SRP54	OMIM:260400
HP:0006505	Abnormal limb epiphysis morphology	6729	SRP54	ORPHA:811
HP:0006505	Abnormal limb epiphysis morphology	79631	EFL1	ORPHA:811
HP:0006505	Abnormal limb epiphysis morphology	3339	HSPG2	OMIM:255800
HP:0006505	Abnormal limb epiphysis morphology	1280	COL2A1	ORPHA:166011
HP:0006505	Abnormal limb epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0006505	Abnormal limb epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006505	Abnormal limb epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006505	Abnormal limb epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0006505	Abnormal limb epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0006505	Abnormal limb epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0006505	Abnormal limb epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0006505	Abnormal limb epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0006505	Abnormal limb epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	7038	TG	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	7173	TPO	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	389434	IYD	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0006505	Abnormal limb epiphysis morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0006505	Abnormal limb epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0006505	Abnormal limb epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0006505	Abnormal limb epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0006505	Abnormal limb epiphysis morphology	8443	GNPAT	OMIM:222765
HP:0006505	Abnormal limb epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0006505	Abnormal limb epiphysis morphology	25839	COG4	OMIM:618150
HP:0006505	Abnormal limb epiphysis morphology	5116	PCNT	OMIM:210720
HP:0006505	Abnormal limb epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0006505	Abnormal limb epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0006505	Abnormal limb epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0006505	Abnormal limb epiphysis morphology	3954	LETM1	OMIM:194190
HP:0006505	Abnormal limb epiphysis morphology	7468	NSD2	OMIM:194190
HP:0006505	Abnormal limb epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0006505	Abnormal limb epiphysis morphology	8200	GDF5	OMIM:113100
HP:0006505	Abnormal limb epiphysis morphology	658	BMPR1B	ORPHA:93384
HP:0006505	Abnormal limb epiphysis morphology	3756	KCNH1	OMIM:611816
HP:0006505	Abnormal limb epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0006505	Abnormal limb epiphysis morphology	415	ARSL	ORPHA:79345
HP:0006505	Abnormal limb epiphysis morphology	4882	NPR2	OMIM:602875
HP:0006505	Abnormal limb epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0006505	Abnormal limb epiphysis morphology	26160	IFT172	OMIM:615630
HP:0006505	Abnormal limb epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0006505	Abnormal limb epiphysis morphology	860	RUNX2	OMIM:119600
HP:0006505	Abnormal limb epiphysis morphology	9321	TRIP11	OMIM:184260
HP:0006505	Abnormal limb epiphysis morphology	375056	MIA3	OMIM:619269
HP:0006505	Abnormal limb epiphysis morphology	51098	IFT52	OMIM:617102
HP:0006505	Abnormal limb epiphysis morphology	2261	FGFR3	OMIM:602849
HP:0006505	Abnormal limb epiphysis morphology	2316	FLNA	OMIM:309350
HP:0006505	Abnormal limb epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0006505	Abnormal limb epiphysis morphology	545	ATR	OMIM:210600
HP:0006505	Abnormal limb epiphysis morphology	5573	PRKAR1A	OMIM:101800
HP:0006505	Abnormal limb epiphysis morphology	6023	RMRP	OMIM:250460
HP:0006505	Abnormal limb epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0006505	Abnormal limb epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0006505	Abnormal limb epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0006505	Abnormal limb epiphysis morphology	4883	NPR3	OMIM:619543
HP:0006505	Abnormal limb epiphysis morphology	51715	RAB23	OMIM:201000
HP:0006505	Abnormal limb epiphysis morphology	60561	RINT1	OMIM:618641
HP:0006505	Abnormal limb epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0006505	Abnormal limb epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0006505	Abnormal limb epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0006505	Abnormal limb epiphysis morphology	388015	RTL1	ORPHA:96334
HP:0006505	Abnormal limb epiphysis morphology	8788	DLK1	ORPHA:96334
HP:0006505	Abnormal limb epiphysis morphology	55384	MEG3	ORPHA:96334
HP:0006505	Abnormal limb epiphysis morphology	23102	TBC1D2B	ORPHA:397973
HP:0006507	Aplasia/hypoplasia of the humerus	2317	FLNB	ORPHA:56305
HP:0006507	Aplasia/hypoplasia of the humerus	2535	FZD2	OMIM:164745
HP:0006507	Aplasia/hypoplasia of the humerus	10082	GPC6	OMIM:258315
HP:0006507	Aplasia/hypoplasia of the humerus	10082	GPC6	ORPHA:93329
HP:0006507	Aplasia/hypoplasia of the humerus	9361	LONP1	OMIM:600373
HP:0006507	Aplasia/hypoplasia of the humerus	8200	GDF5	OMIM:200700
HP:0006507	Aplasia/hypoplasia of the humerus	64327	LMBR1	OMIM:200500
HP:0006507	Aplasia/hypoplasia of the humerus	64327	LMBR1	ORPHA:931
HP:0006507	Aplasia/hypoplasia of the humerus	6628	SNRPB	OMIM:117650
HP:0006507	Aplasia/hypoplasia of the humerus	10588	MTHFS	OMIM:618367
HP:0006507	Aplasia/hypoplasia of the humerus	9851	KIAA0753	OMIM:619479
HP:0006507	Aplasia/hypoplasia of the humerus	23483	TGDS	OMIM:616145
HP:0006507	Aplasia/hypoplasia of the humerus	100151683	RNU4ATAC	OMIM:210710
HP:0006507	Aplasia/hypoplasia of the humerus	11128	POLR3A	OMIM:264090
HP:0006507	Aplasia/hypoplasia of the humerus	11128	POLR3A	ORPHA:3455
HP:0006507	Aplasia/hypoplasia of the humerus	57167	SALL4	OMIM:607323
HP:0006507	Aplasia/hypoplasia of the humerus	57167	SALL4	ORPHA:959
HP:0006507	Aplasia/hypoplasia of the humerus	55764	IFT122	OMIM:218330
HP:0006507	Aplasia/hypoplasia of the humerus	145258	GSC	OMIM:602471
HP:0006507	Aplasia/hypoplasia of the humerus	79087	ALG12	OMIM:607143
HP:0006507	Aplasia/hypoplasia of the humerus	9241	NOG	OMIM:186500
HP:0006507	Aplasia/hypoplasia of the humerus	157570	ESCO2	OMIM:268300
HP:0006507	Aplasia/hypoplasia of the humerus	4982	TNFRSF11B	OMIM:239000
HP:0006507	Aplasia/hypoplasia of the humerus	6910	TBX5	OMIM:142900
HP:0006507	Aplasia/hypoplasia of the humerus	114803	MYSM1	ORPHA:508542
HP:0006507	Aplasia/hypoplasia of the humerus	8540	AGPS	OMIM:600121
HP:0006507	Aplasia/hypoplasia of the humerus	9401	RECQL4	OMIM:218600
HP:0006507	Aplasia/hypoplasia of the humerus	6926	TBX3	OMIM:181450
HP:0006507	Aplasia/hypoplasia of the humerus	8443	GNPAT	OMIM:222765
HP:0006507	Aplasia/hypoplasia of the humerus	3549	IHH	OMIM:607778
HP:0006507	Aplasia/hypoplasia of the humerus	2187	FANCB	OMIM:314390
HP:0006507	Aplasia/hypoplasia of the humerus	7547	ZIC3	OMIM:314390
HP:0006507	Aplasia/hypoplasia of the humerus	8802	SUCLG1	ORPHA:17
HP:0006507	Aplasia/hypoplasia of the humerus	2316	FLNA	OMIM:309350
HP:0006507	Aplasia/hypoplasia of the humerus	5830	PEX5	OMIM:616716
HP:0006507	Aplasia/hypoplasia of the humerus	538	ATP7A	ORPHA:198
HP:0006507	Aplasia/hypoplasia of the humerus	9939	RBM8A	ORPHA:3320
HP:0006507	Aplasia/hypoplasia of the humerus	9939	RBM8A	OMIM:274000
HP:0006508	Abnormality of tibial epiphyses	1280	COL2A1	ORPHA:166011
HP:0006508	Abnormality of tibial epiphyses	1301	COL11A1	OMIM:154780
HP:0006508	Abnormality of tibial epiphyses	388015	RTL1	ORPHA:96334
HP:0006508	Abnormality of tibial epiphyses	8788	DLK1	ORPHA:96334
HP:0006508	Abnormality of tibial epiphyses	55384	MEG3	ORPHA:96334
HP:0006510	Chronic pulmonary obstruction	7840	ALMS1	ORPHA:64
HP:0006510	Chronic pulmonary obstruction	83861	RSPH3	OMIM:616481
HP:0006510	Chronic pulmonary obstruction	5265	SERPINA1	OMIM:613490
HP:0006510	Chronic pulmonary obstruction	4625	MYH7	ORPHA:437572
HP:0006510	Chronic pulmonary obstruction	5880	RAC2	OMIM:618986
HP:0006510	Chronic pulmonary obstruction	7454	WAS	ORPHA:906
HP:0006510	Chronic pulmonary obstruction	7456	WIPF1	ORPHA:906
HP:0006510	Chronic pulmonary obstruction	1493	CTLA4	ORPHA:900
HP:0006510	Chronic pulmonary obstruction	26191	PTPN22	ORPHA:900
HP:0006510	Chronic pulmonary obstruction	3115	HLA-DPB1	ORPHA:900
HP:0006510	Chronic pulmonary obstruction	5657	PRTN3	ORPHA:900
HP:0006510	Chronic pulmonary obstruction	3113	HLA-DPA1	ORPHA:900
HP:0006510	Chronic pulmonary obstruction	1312	COMT	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	221037	JMJD1C	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	2812	GP1BB	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	6239	RREB1	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	6899	TBX1	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	6899	TBX1	OMIM:188400
HP:0006510	Chronic pulmonary obstruction	7290	HIRA	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	9632	SEC24C	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	7353	UFD1	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	421	ARVCF	ORPHA:567
HP:0006510	Chronic pulmonary obstruction	2717	GLA	ORPHA:324
HP:0006510	Chronic pulmonary obstruction	641	BLM	ORPHA:125
HP:0006510	Chronic pulmonary obstruction	3162	HMOX1	OMIM:606963
HP:0006510	Chronic pulmonary obstruction	4312	MMP1	OMIM:606963
HP:0006510	Chronic pulmonary obstruction	89765	RSPH1	OMIM:615481
HP:0006510	Chronic pulmonary obstruction	219972	MPEG1	OMIM:619223
HP:0006510	Chronic pulmonary obstruction	345643	MCIDAS	OMIM:618695
HP:0006510	Chronic pulmonary obstruction	161582	DNAAF4	OMIM:615482
HP:0006510	Chronic pulmonary obstruction	146206	CARMIL2	OMIM:618131
HP:0006510	Chronic pulmonary obstruction	221421	RSPH9	OMIM:612650
HP:0006510	Chronic pulmonary obstruction	79875	THSD4	OMIM:619825
HP:0006510	Chronic pulmonary obstruction	4790	NFKB1	OMIM:616576
HP:0006510	Chronic pulmonary obstruction	1536	CYBB	ORPHA:379
HP:0006510	Chronic pulmonary obstruction	4688	NCF2	ORPHA:379
HP:0006510	Chronic pulmonary obstruction	1535	CYBA	ORPHA:379
HP:0006510	Chronic pulmonary obstruction	4689	NCF4	ORPHA:379
HP:0006510	Chronic pulmonary obstruction	653361	NCF1	ORPHA:379
HP:0006510	Chronic pulmonary obstruction	79415	CYBC1	ORPHA:379
HP:0006511	Laryngeal stridor	2972	BRF1	OMIM:616202
HP:0006511	Laryngeal stridor	2972	BRF1	ORPHA:444072
HP:0006511	Laryngeal stridor	427	ASAH1	ORPHA:333
HP:0006511	Laryngeal stridor	5354	PLP1	ORPHA:280210
HP:0006511	Laryngeal stridor	686	BTD	ORPHA:79241
HP:0006511	Laryngeal stridor	89910	UBE3B	OMIM:244450
HP:0006511	Laryngeal stridor	6872	TAF1	ORPHA:53351
HP:0006536	Airway obstruction	3763	KCNJ6	ORPHA:435628
HP:0006536	Airway obstruction	3763	KCNJ6	OMIM:614098
HP:0006536	Airway obstruction	3423	IDS	ORPHA:217085
HP:0006536	Airway obstruction	3423	IDS	ORPHA:217093
HP:0006536	Airway obstruction	2261	FGFR3	OMIM:100800
HP:0006536	Airway obstruction	57688	ZSWIM6	ORPHA:1827
HP:0006536	Airway obstruction	57688	ZSWIM6	OMIM:603671
HP:0006536	Airway obstruction	10020	GNE	ORPHA:3166
HP:0006536	Airway obstruction	65992	DDRGK1	ORPHA:93352
HP:0006536	Airway obstruction	7512	XPNPEP2	ORPHA:100057
HP:0006536	Airway obstruction	4000	LMNA	ORPHA:740
HP:0006536	Airway obstruction	10269	ZMPSTE24	ORPHA:740
HP:0006536	Airway obstruction	6452	SH3BP2	ORPHA:184
HP:0006536	Airway obstruction	27245	AHDC1	ORPHA:412069
HP:0006536	Airway obstruction	5447	POR	OMIM:207410
HP:0006536	Airway obstruction	2263	FGFR2	OMIM:207410
HP:0006536	Airway obstruction	6662	SOX9	ORPHA:718
HP:0006536	Airway obstruction	56244	BTNL2	ORPHA:797
HP:0006536	Airway obstruction	3123	HLA-DRB1	ORPHA:797
HP:0006536	Airway obstruction	1301	COL11A1	ORPHA:440354
HP:0006536	Airway obstruction	7840	ALMS1	ORPHA:64
HP:0006536	Airway obstruction	83861	RSPH3	OMIM:616481
HP:0006536	Airway obstruction	5265	SERPINA1	OMIM:613490
HP:0006536	Airway obstruction	4625	MYH7	ORPHA:437572
HP:0006536	Airway obstruction	5880	RAC2	OMIM:618986
HP:0006536	Airway obstruction	7454	WAS	ORPHA:906
HP:0006536	Airway obstruction	7456	WIPF1	ORPHA:906
HP:0006536	Airway obstruction	1493	CTLA4	ORPHA:900
HP:0006536	Airway obstruction	26191	PTPN22	ORPHA:900
HP:0006536	Airway obstruction	3115	HLA-DPB1	ORPHA:900
HP:0006536	Airway obstruction	5657	PRTN3	ORPHA:900
HP:0006536	Airway obstruction	3113	HLA-DPA1	ORPHA:900
HP:0006536	Airway obstruction	1312	COMT	ORPHA:567
HP:0006536	Airway obstruction	221037	JMJD1C	ORPHA:567
HP:0006536	Airway obstruction	2812	GP1BB	ORPHA:567
HP:0006536	Airway obstruction	6239	RREB1	ORPHA:567
HP:0006536	Airway obstruction	6899	TBX1	ORPHA:567
HP:0006536	Airway obstruction	6899	TBX1	OMIM:188400
HP:0006536	Airway obstruction	7290	HIRA	ORPHA:567
HP:0006536	Airway obstruction	9632	SEC24C	ORPHA:567
HP:0006536	Airway obstruction	7353	UFD1	ORPHA:567
HP:0006536	Airway obstruction	421	ARVCF	ORPHA:567
HP:0006536	Airway obstruction	2717	GLA	ORPHA:324
HP:0006536	Airway obstruction	641	BLM	ORPHA:125
HP:0006536	Airway obstruction	3162	HMOX1	OMIM:606963
HP:0006536	Airway obstruction	4312	MMP1	OMIM:606963
HP:0006536	Airway obstruction	89765	RSPH1	OMIM:615481
HP:0006536	Airway obstruction	219972	MPEG1	OMIM:619223
HP:0006536	Airway obstruction	345643	MCIDAS	OMIM:618695
HP:0006536	Airway obstruction	161582	DNAAF4	OMIM:615482
HP:0006536	Airway obstruction	146206	CARMIL2	OMIM:618131
HP:0006536	Airway obstruction	221421	RSPH9	OMIM:612650
HP:0006536	Airway obstruction	79875	THSD4	OMIM:619825
HP:0006536	Airway obstruction	4790	NFKB1	OMIM:616576
HP:0006536	Airway obstruction	1536	CYBB	ORPHA:379
HP:0006536	Airway obstruction	4688	NCF2	ORPHA:379
HP:0006536	Airway obstruction	1535	CYBA	ORPHA:379
HP:0006536	Airway obstruction	4689	NCF4	ORPHA:379
HP:0006536	Airway obstruction	653361	NCF1	ORPHA:379
HP:0006536	Airway obstruction	79415	CYBC1	ORPHA:379
HP:0006536	Airway obstruction	25981	DNAH1	ORPHA:244
HP:0006536	Airway obstruction	115948	ODAD3	ORPHA:244
HP:0006536	Airway obstruction	54768	HYDIN	ORPHA:244
HP:0006536	Airway obstruction	352909	DNAAF3	ORPHA:244
HP:0006536	Airway obstruction	27148	STK36	ORPHA:244
HP:0006536	Airway obstruction	51314	NME8	ORPHA:244
HP:0006536	Airway obstruction	92749	DRC1	ORPHA:244
HP:0006536	Airway obstruction	54970	TTC12	ORPHA:244
HP:0006536	Airway obstruction	152110	NEK10	ORPHA:244
HP:0006536	Airway obstruction	8481	OFD1	ORPHA:244
HP:0006536	Airway obstruction	2302	FOXJ1	ORPHA:244
HP:0006536	Airway obstruction	85478	CCDC65	ORPHA:244
HP:0006536	Airway obstruction	55036	CCDC40	ORPHA:244
HP:0006536	Airway obstruction	51364	ZMYND10	ORPHA:244
HP:0006536	Airway obstruction	64446	DNAI2	ORPHA:244
HP:0006536	Airway obstruction	6674	SPAG1	ORPHA:244
HP:0006536	Airway obstruction	83544	DNAL1	ORPHA:244
HP:0006536	Airway obstruction	83538	ODAD4	ORPHA:244
HP:0006536	Airway obstruction	200373	CFAP221	ORPHA:244
HP:0006536	Airway obstruction	374407	DNAJB13	ORPHA:244
HP:0006536	Airway obstruction	55172	DNAAF2	ORPHA:244
HP:0006536	Airway obstruction	2622	GAS8	ORPHA:244
HP:0006536	Airway obstruction	23639	DNAAF11	ORPHA:244
HP:0006536	Airway obstruction	27019	DNAI1	ORPHA:244
HP:0006536	Airway obstruction	345895	RSPH4A	ORPHA:244
HP:0006536	Airway obstruction	54919	DNAAF5	ORPHA:244
HP:0006536	Airway obstruction	6103	RPGR	ORPHA:244
HP:0006536	Airway obstruction	388389	CCDC103	ORPHA:244
HP:0006536	Airway obstruction	93233	ODAD1	ORPHA:244
HP:0006536	Airway obstruction	55130	ODAD2	ORPHA:244
HP:0006536	Airway obstruction	1767	DNAH5	ORPHA:244
HP:0006536	Airway obstruction	56683	CFAP298	ORPHA:244
HP:0006536	Airway obstruction	79925	SPEF2	ORPHA:244
HP:0006536	Airway obstruction	10309	CCNO	ORPHA:244
HP:0006536	Airway obstruction	115399	LRRC56	ORPHA:244
HP:0006536	Airway obstruction	139212	DNAAF6	ORPHA:244
HP:0006536	Airway obstruction	123872	DNAAF1	ORPHA:244
HP:0006536	Airway obstruction	85016	CFAP300	ORPHA:244
HP:0006536	Airway obstruction	339829	CCDC39	ORPHA:244
HP:0006536	Airway obstruction	8701	DNAH11	ORPHA:244
HP:0006536	Airway obstruction	1770	DNAH9	ORPHA:244
HP:0006536	Airway obstruction	246176	GAS2L2	ORPHA:244
HP:0006536	Airway obstruction	7092	TLL1	ORPHA:99103
HP:0006536	Airway obstruction	7092	TLL1	ORPHA:99106
HP:0006536	Airway obstruction	57057	TBX20	ORPHA:99103
HP:0006536	Airway obstruction	4624	MYH6	ORPHA:99103
HP:0006536	Airway obstruction	1482	NKX2-5	ORPHA:99103
HP:0006536	Airway obstruction	70	ACTC1	ORPHA:99103
HP:0006536	Airway obstruction	10370	CITED2	ORPHA:99103
HP:0006536	Airway obstruction	10370	CITED2	ORPHA:99105
HP:0006536	Airway obstruction	2626	GATA4	ORPHA:99103
HP:0006536	Airway obstruction	2627	GATA6	ORPHA:99103
HP:0006536	Airway obstruction	6804	STX1A	ORPHA:586
HP:0006536	Airway obstruction	2947	GSTM3	ORPHA:586
HP:0006536	Airway obstruction	7040	TGFB1	ORPHA:586
HP:0006536	Airway obstruction	2729	GCLC	ORPHA:586
HP:0006536	Airway obstruction	1084	CEACAM3	ORPHA:586
HP:0006536	Airway obstruction	6556	SLC11A1	ORPHA:586
HP:0006536	Airway obstruction	51164	DCTN4	ORPHA:586
HP:0006536	Airway obstruction	3783	KCNN4	ORPHA:586
HP:0006536	Airway obstruction	4282	MIF	ORPHA:586
HP:0006536	Airway obstruction	1909	EDNRA	ORPHA:586
HP:0006536	Airway obstruction	6550	SLC9A3	ORPHA:586
HP:0006536	Airway obstruction	115019	SLC26A9	ORPHA:586
HP:0006536	Airway obstruction	3077	HFE	ORPHA:586
HP:0006536	Airway obstruction	11254	SLC6A14	ORPHA:586
HP:0006536	Airway obstruction	1080	CFTR	ORPHA:586
HP:0006536	Airway obstruction	22802	CLCA4	ORPHA:586
HP:0006536	Airway obstruction	4680	CEACAM6	ORPHA:586
HP:0006536	Airway obstruction	3835	KIF22	ORPHA:93360
HP:0006536	Airway obstruction	4784	NFIX	OMIM:602535
HP:0006536	Airway obstruction	65082	VPS33A	ORPHA:505248
HP:0006536	Airway obstruction	324	APC	ORPHA:261584
HP:0006536	Airway obstruction	4256	MGP	OMIM:245150
HP:0006536	Airway obstruction	56983	POGLUT1	OMIM:617232
HP:0006536	Airway obstruction	2990	GUSB	OMIM:253220
HP:0006536	Airway obstruction	1776	DNASE1L3	ORPHA:36412
HP:0006536	Airway obstruction	2161	F12	OMIM:610618
HP:0006536	Airway obstruction	2022	ENG	OMIM:187300
HP:0006536	Airway obstruction	6340	SCNN1G	ORPHA:60033
HP:0006536	Airway obstruction	6337	SCNN1A	ORPHA:60033
HP:0006536	Airway obstruction	6338	SCNN1B	ORPHA:60033
HP:0006530	Abnormal pulmonary interstitial morphology	355	FAS	ORPHA:3261
HP:0006530	Abnormal pulmonary interstitial morphology	356	FASLG	ORPHA:3261
HP:0006530	Abnormal pulmonary interstitial morphology	5580	PRKCD	ORPHA:3261
HP:0006530	Abnormal pulmonary interstitial morphology	843	CASP10	ORPHA:3261
HP:0006530	Abnormal pulmonary interstitial morphology	10125	RASGRP1	ORPHA:3261
HP:0006530	Abnormal pulmonary interstitial morphology	10043	TOM1	OMIM:619510
HP:0006530	Abnormal pulmonary interstitial morphology	55213	RCBTB1	OMIM:617175
HP:0006530	Abnormal pulmonary interstitial morphology	55651	NHP2	OMIM:224230
HP:0006530	Abnormal pulmonary interstitial morphology	55505	NOP10	OMIM:224230
HP:0006530	Abnormal pulmonary interstitial morphology	5880	RAC2	OMIM:618986
HP:0006530	Abnormal pulmonary interstitial morphology	3257	HPS1	OMIM:203300
HP:0006530	Abnormal pulmonary interstitial morphology	1493	CTLA4	ORPHA:900
HP:0006530	Abnormal pulmonary interstitial morphology	26191	PTPN22	ORPHA:900
HP:0006530	Abnormal pulmonary interstitial morphology	5657	PRTN3	ORPHA:900
HP:0006530	Abnormal pulmonary interstitial morphology	3113	HLA-DPA1	ORPHA:900
HP:0006530	Abnormal pulmonary interstitial morphology	1736	DKC1	OMIM:305000
HP:0006530	Abnormal pulmonary interstitial morphology	1235	CCR6	ORPHA:220402
HP:0006530	Abnormal pulmonary interstitial morphology	1235	CCR6	ORPHA:220393
HP:0006530	Abnormal pulmonary interstitial morphology	79932	KIAA0319L	ORPHA:220402
HP:0006530	Abnormal pulmonary interstitial morphology	1490	CCN2	ORPHA:220402
HP:0006530	Abnormal pulmonary interstitial morphology	1490	CCN2	ORPHA:220393
HP:0006530	Abnormal pulmonary interstitial morphology	3663	IRF5	ORPHA:220402
HP:0006530	Abnormal pulmonary interstitial morphology	3663	IRF5	ORPHA:220393
HP:0006530	Abnormal pulmonary interstitial morphology	857	CAV1	ORPHA:220402
HP:0006530	Abnormal pulmonary interstitial morphology	857	CAV1	ORPHA:220393
HP:0006530	Abnormal pulmonary interstitial morphology	5339	PLEC	ORPHA:254361
HP:0006530	Abnormal pulmonary interstitial morphology	3106	HLA-B	ORPHA:29207
HP:0006530	Abnormal pulmonary interstitial morphology	89781	HPS4	OMIM:614073
HP:0006530	Abnormal pulmonary interstitial morphology	374354	NHLRC2	OMIM:618278
HP:0006530	Abnormal pulmonary interstitial morphology	55596	ZCCHC8	OMIM:618674
HP:0006530	Abnormal pulmonary interstitial morphology	60468	BACH2	OMIM:618394
HP:0006530	Abnormal pulmonary interstitial morphology	79803	HPS6	OMIM:614075
HP:0006530	Abnormal pulmonary interstitial morphology	137682	NDUFAF6	OMIM:618913
HP:0006530	Abnormal pulmonary interstitial morphology	137682	NDUFAF6	ORPHA:3337
HP:0006530	Abnormal pulmonary interstitial morphology	3557	IL1RN	OMIM:612852
HP:0006530	Abnormal pulmonary interstitial morphology	6117	RPA1	OMIM:619767
HP:0006530	Abnormal pulmonary interstitial morphology	1962	EHHADH	ORPHA:3337
HP:0006530	Abnormal pulmonary interstitial morphology	2628	GATM	ORPHA:3337
HP:0006530	Abnormal pulmonary interstitial morphology	6569	SLC34A1	ORPHA:3337
HP:0006530	Abnormal pulmonary interstitial morphology	10577	NPC2	OMIM:607625
HP:0006530	Abnormal pulmonary interstitial morphology	7157	TP53	OMIM:618165
HP:0006530	Abnormal pulmonary interstitial morphology	340061	STING1	OMIM:615934
HP:0006530	Abnormal pulmonary interstitial morphology	3431	SP110	ORPHA:79124
HP:0006530	Abnormal pulmonary interstitial morphology	8546	AP3B1	OMIM:608233
HP:0006530	Abnormal pulmonary interstitial morphology	29893	PSMC3IP	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	171568	POLR3H	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	2516	NR5A1	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	125150	ZSWIM7	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	9210	BMP15	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	57122	NUP107	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	23514	SPIDR	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	2492	FSHR	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	56945	MRPS22	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	646	BNC1	ORPHA:243
HP:0006530	Abnormal pulmonary interstitial morphology	80169	CTC1	OMIM:612199
HP:0006530	Abnormal pulmonary interstitial morphology	79415	CYBC1	OMIM:618935
HP:0006530	Abnormal pulmonary interstitial morphology	57187	THOC2	ORPHA:457240
HP:0006530	Abnormal pulmonary interstitial morphology	374393	FAM111B	OMIM:615704
HP:0006530	Abnormal pulmonary interstitial morphology	6439	SFTPB	OMIM:265120
HP:0006530	Abnormal pulmonary interstitial morphology	6774	STAT3	OMIM:615952
HP:0006530	Abnormal pulmonary interstitial morphology	21	ABCA3	OMIM:610921
HP:0006530	Abnormal pulmonary interstitial morphology	6440	SFTPC	OMIM:610913
HP:0006530	Abnormal pulmonary interstitial morphology	5896	RAG1	ORPHA:231154
HP:0006530	Abnormal pulmonary interstitial morphology	50943	FOXP3	ORPHA:37042
HP:0006530	Abnormal pulmonary interstitial morphology	1794	DOCK2	OMIM:616433
HP:0006530	Abnormal pulmonary interstitial morphology	5336	PLCG2	OMIM:614878
HP:0006530	Abnormal pulmonary interstitial morphology	26277	TINF2	OMIM:127550
HP:0006530	Abnormal pulmonary interstitial morphology	3115	HLA-DPB1	ORPHA:133
HP:0006530	Abnormal pulmonary interstitial morphology	6777	STAT5B	OMIM:245590
HP:0006530	Abnormal pulmonary interstitial morphology	3560	IL2RB	OMIM:618495
HP:0006530	Abnormal pulmonary interstitial morphology	8943	AP3D1	OMIM:617050
HP:0006530	Abnormal pulmonary interstitial morphology	3123	HLA-DRB1	OMIM:181000
HP:0006530	Abnormal pulmonary interstitial morphology	6609	SMPD1	ORPHA:77293
HP:0006530	Abnormal pulmonary interstitial morphology	6609	SMPD1	OMIM:607616
HP:0006530	Abnormal pulmonary interstitial morphology	2629	GBA1	ORPHA:2072
HP:0006530	Abnormal pulmonary interstitial morphology	2629	GBA1	ORPHA:77261
HP:0006530	Abnormal pulmonary interstitial morphology	2629	GBA1	OMIM:230800
HP:0006530	Abnormal pulmonary interstitial morphology	2629	GBA1	ORPHA:77259
HP:0006530	Abnormal pulmonary interstitial morphology	4141	MARS1	ORPHA:401835
HP:0006530	Abnormal pulmonary interstitial morphology	4141	MARS1	OMIM:615486
HP:0006530	Abnormal pulmonary interstitial morphology	2193	FARSA	OMIM:619013
HP:0006530	Abnormal pulmonary interstitial morphology	56244	BTNL2	OMIM:612387
HP:0006530	Abnormal pulmonary interstitial morphology	10056	FARSB	OMIM:613658
HP:0006530	Abnormal pulmonary interstitial morphology	3675	ITGA3	OMIM:614748
HP:0006530	Abnormal pulmonary interstitial morphology	7080	NKX2-1	ORPHA:209905
HP:0006530	Abnormal pulmonary interstitial morphology	2077	ERF	OMIM:617180
HP:0006530	Abnormal pulmonary interstitial morphology	57169	ZNFX1	OMIM:619644
HP:0006530	Abnormal pulmonary interstitial morphology	1314	COPA	OMIM:616414
HP:0006530	Abnormal pulmonary interstitial morphology	6813	STXBP2	OMIM:613101
HP:0006530	Abnormal pulmonary interstitial morphology	5062	PAK2	OMIM:618458
HP:0006530	Abnormal pulmonary interstitial morphology	165918	RNF168	ORPHA:420741
HP:0006530	Abnormal pulmonary interstitial morphology	10551	AGR2	OMIM:620233
HP:0006530	Abnormal pulmonary interstitial morphology	950	SCARB2	ORPHA:77259
HP:0006530	Abnormal pulmonary interstitial morphology	5294	PIK3CG	OMIM:619802
HP:0006530	Abnormal pulmonary interstitial morphology	9094	UNC119	OMIM:615518
HP:0006530	Abnormal pulmonary interstitial morphology	695	BTK	OMIM:300755
HP:0006530	Abnormal pulmonary interstitial morphology	56160	NSMCE3	OMIM:617241
HP:0006530	Abnormal pulmonary interstitial morphology	729238	SFTPA2	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	79991	STN1	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	653509	SFTPA1	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	1832	DSP	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	727897	MUC5B	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	10144	FAM13A	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	23250	ATP11A	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	91039	DPP9	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	51750	RTEL1	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	7012	TERC	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	5073	PARN	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	5073	PARN	OMIM:616371
HP:0006530	Abnormal pulmonary interstitial morphology	7015	TERT	ORPHA:2032
HP:0006530	Abnormal pulmonary interstitial morphology	25981	DNAH1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	115948	ODAD3	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	54768	HYDIN	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	352909	DNAAF3	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	27148	STK36	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	51314	NME8	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	92749	DRC1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	54970	TTC12	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	152110	NEK10	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	8481	OFD1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	2302	FOXJ1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	221421	RSPH9	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	85478	CCDC65	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	55036	CCDC40	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	51364	ZMYND10	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	64446	DNAI2	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	6674	SPAG1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	83544	DNAL1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	89765	RSPH1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	83538	ODAD4	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	200373	CFAP221	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	374407	DNAJB13	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	55172	DNAAF2	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	161582	DNAAF4	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	2622	GAS8	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	23639	DNAAF11	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	27019	DNAI1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	345895	RSPH4A	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	54919	DNAAF5	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	6103	RPGR	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	388389	CCDC103	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	93233	ODAD1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	55130	ODAD2	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	1767	DNAH5	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	83861	RSPH3	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	345643	MCIDAS	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	56683	CFAP298	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	79925	SPEF2	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	10309	CCNO	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	115399	LRRC56	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	139212	DNAAF6	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	123872	DNAAF1	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	85016	CFAP300	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	339829	CCDC39	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	8701	DNAH11	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	1770	DNAH9	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	246176	GAS2L2	ORPHA:244
HP:0006530	Abnormal pulmonary interstitial morphology	1438	CSF2RA	ORPHA:264675
HP:0006530	Abnormal pulmonary interstitial morphology	1281	COL3A1	OMIM:130050
HP:0006530	Abnormal pulmonary interstitial morphology	427	ASAH1	ORPHA:333
HP:0006530	Abnormal pulmonary interstitial morphology	659	BMPR2	OMIM:265450
HP:0006530	Abnormal pulmonary interstitial morphology	440275	EIF2AK4	ORPHA:199241
HP:0006530	Abnormal pulmonary interstitial morphology	1439	CSF2RB	OMIM:614370
HP:0006530	Abnormal pulmonary interstitial morphology	10568	SLC34A2	ORPHA:60025
HP:0006530	Abnormal pulmonary interstitial morphology	3559	IL2RA	OMIM:606367
HP:0006514	Intraalveolar nodular calcifications	10568	SLC34A2	OMIM:265100
HP:0006515	Interstitial pneumonitis	5896	RAG1	ORPHA:231154
HP:0006515	Interstitial pneumonitis	6774	STAT3	OMIM:615952
HP:0006515	Interstitial pneumonitis	50943	FOXP3	ORPHA:37042
HP:0006515	Interstitial pneumonitis	1794	DOCK2	OMIM:616433
HP:0006515	Interstitial pneumonitis	5336	PLCG2	OMIM:614878
HP:0006515	Interstitial pneumonitis	6439	SFTPB	ORPHA:217563
HP:0006515	Interstitial pneumonitis	26277	TINF2	OMIM:127550
HP:0006515	Interstitial pneumonitis	7012	TERC	OMIM:127550
HP:0006515	Interstitial pneumonitis	7015	TERT	OMIM:127550
HP:0006515	Interstitial pneumonitis	6440	SFTPC	OMIM:610913
HP:0006515	Interstitial pneumonitis	3115	HLA-DPB1	ORPHA:133
HP:0006515	Interstitial pneumonitis	6777	STAT5B	OMIM:245590
HP:0006515	Interstitial pneumonitis	3560	IL2RB	OMIM:618495
HP:0006515	Interstitial pneumonitis	21	ABCA3	OMIM:610921
HP:0006515	Interstitial pneumonitis	653509	SFTPA1	OMIM:619611
HP:0006516	Hypersensitivity pneumonitis	3115	HLA-DPB1	ORPHA:133
HP:0006517	Intraalveolar phospholipid accumulation	6439	SFTPB	OMIM:265120
HP:0006517	Intraalveolar phospholipid accumulation	6439	SFTPB	ORPHA:217563
HP:0006517	Intraalveolar phospholipid accumulation	9056	SLC7A7	OMIM:222700
HP:0006517	Intraalveolar phospholipid accumulation	9056	SLC7A7	ORPHA:470
HP:0006517	Intraalveolar phospholipid accumulation	1438	CSF2RA	OMIM:300770
HP:0006517	Intraalveolar phospholipid accumulation	1439	CSF2RB	OMIM:614370
HP:0006517	Intraalveolar phospholipid accumulation	3123	HLA-DRB1	ORPHA:747
HP:0006517	Intraalveolar phospholipid accumulation	21	ABCA3	OMIM:610921
HP:0006517	Intraalveolar phospholipid accumulation	4938	OAS1	OMIM:618042
HP:0006517	Intraalveolar phospholipid accumulation	4141	MARS1	OMIM:615486
HP:0006517	Intraalveolar phospholipid accumulation	6440	SFTPC	OMIM:610913
HP:0006518	Pulmonary venous occlusion	659	BMPR2	OMIM:265450
HP:0006518	Pulmonary venous occlusion	440275	EIF2AK4	OMIM:234810
HP:0006519	Alveolar cell carcinoma	6440	SFTPC	OMIM:178500
HP:0006519	Alveolar cell carcinoma	727897	MUC5B	OMIM:178500
HP:0006519	Alveolar cell carcinoma	729238	SFTPA2	OMIM:178500
HP:0006519	Alveolar cell carcinoma	7015	TERT	OMIM:178500
HP:0006519	Alveolar cell carcinoma	5071	PRKN	OMIM:211980
HP:0006519	Alveolar cell carcinoma	3845	KRAS	OMIM:211980
HP:0006519	Alveolar cell carcinoma	3659	IRF1	OMIM:211980
HP:0006519	Alveolar cell carcinoma	5002	SLC22A18	OMIM:211980
HP:0006519	Alveolar cell carcinoma	2074	ERCC6	OMIM:211980
HP:0006519	Alveolar cell carcinoma	5290	PIK3CA	OMIM:211980
HP:0006519	Alveolar cell carcinoma	1956	EGFR	OMIM:211980
HP:0006519	Alveolar cell carcinoma	1548	CYP2A6	OMIM:211980
HP:0006519	Alveolar cell carcinoma	2064	ERBB2	OMIM:211980
HP:0006519	Alveolar cell carcinoma	356	FASLG	OMIM:211980
HP:0006519	Alveolar cell carcinoma	5519	PPP2R1B	OMIM:211980
HP:0006519	Alveolar cell carcinoma	841	CASP8	OMIM:211980
HP:0006519	Alveolar cell carcinoma	1326	MAP3K8	OMIM:211980
HP:0006519	Alveolar cell carcinoma	673	BRAF	OMIM:211980
HP:0006520	Progressive pulmonary function impairment	10568	SLC34A2	OMIM:265100
HP:0006520	Progressive pulmonary function impairment	8314	BAP1	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	4771	NF2	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	6598	SMARCB1	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	5155	PDGFB	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	84231	TRAF7	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	6608	SMO	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	207	AKT1	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	5290	PIK3CA	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	7015	TERT	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	51684	SUFU	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	6605	SMARCE1	ORPHA:2495
HP:0006520	Progressive pulmonary function impairment	6609	SMPD1	ORPHA:77293
HP:0006521	Pulmonary lymphangiectasia	54345	SOX18	OMIM:137940
HP:0006521	Pulmonary lymphangiectasia	79633	FAT4	OMIM:616006
HP:0006521	Pulmonary lymphangiectasia	79633	FAT4	ORPHA:2136
HP:0006521	Pulmonary lymphangiectasia	9508	ADAMTS3	ORPHA:2136
HP:0006521	Pulmonary lymphangiectasia	147372	CCBE1	ORPHA:2136
HP:0006521	Pulmonary lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0006521	Pulmonary lymphangiectasia	2294	FOXF1	OMIM:265380
HP:0006522	Repeated pneumothoraces	25	ABL1	OMIM:617602
HP:0006522	Repeated pneumothoraces	1281	COL3A1	OMIM:130050
HP:0006522	Repeated pneumothoraces	126792	B3GALT6	ORPHA:536467
HP:0002206	Pulmonary fibrosis	355	FAS	ORPHA:3261
HP:0002206	Pulmonary fibrosis	356	FASLG	ORPHA:3261
HP:0002206	Pulmonary fibrosis	5580	PRKCD	ORPHA:3261
HP:0002206	Pulmonary fibrosis	843	CASP10	ORPHA:3261
HP:0002206	Pulmonary fibrosis	10125	RASGRP1	ORPHA:3261
HP:0002206	Pulmonary fibrosis	10043	TOM1	OMIM:619510
HP:0002206	Pulmonary fibrosis	55213	RCBTB1	OMIM:617175
HP:0002206	Pulmonary fibrosis	55651	NHP2	OMIM:224230
HP:0002206	Pulmonary fibrosis	55505	NOP10	OMIM:224230
HP:0002206	Pulmonary fibrosis	7015	TERT	OMIM:614742
HP:0002206	Pulmonary fibrosis	7015	TERT	OMIM:178500
HP:0002206	Pulmonary fibrosis	7015	TERT	OMIM:127550
HP:0002206	Pulmonary fibrosis	7015	TERT	OMIM:613989
HP:0002206	Pulmonary fibrosis	7015	TERT	ORPHA:2032
HP:0002206	Pulmonary fibrosis	5880	RAC2	OMIM:618986
HP:0002206	Pulmonary fibrosis	3257	HPS1	OMIM:203300
HP:0002206	Pulmonary fibrosis	7012	TERC	OMIM:614743
HP:0002206	Pulmonary fibrosis	7012	TERC	OMIM:127550
HP:0002206	Pulmonary fibrosis	7012	TERC	ORPHA:2032
HP:0002206	Pulmonary fibrosis	1493	CTLA4	ORPHA:900
HP:0002206	Pulmonary fibrosis	26191	PTPN22	ORPHA:900
HP:0002206	Pulmonary fibrosis	3115	HLA-DPB1	ORPHA:900
HP:0002206	Pulmonary fibrosis	3115	HLA-DPB1	ORPHA:133
HP:0002206	Pulmonary fibrosis	5657	PRTN3	ORPHA:900
HP:0002206	Pulmonary fibrosis	3113	HLA-DPA1	ORPHA:900
HP:0002206	Pulmonary fibrosis	1736	DKC1	OMIM:305000
HP:0002206	Pulmonary fibrosis	1235	CCR6	ORPHA:220402
HP:0002206	Pulmonary fibrosis	1235	CCR6	ORPHA:220393
HP:0002206	Pulmonary fibrosis	79932	KIAA0319L	ORPHA:220402
HP:0002206	Pulmonary fibrosis	1490	CCN2	ORPHA:220402
HP:0002206	Pulmonary fibrosis	1490	CCN2	ORPHA:220393
HP:0002206	Pulmonary fibrosis	3663	IRF5	ORPHA:220402
HP:0002206	Pulmonary fibrosis	3663	IRF5	ORPHA:220393
HP:0002206	Pulmonary fibrosis	857	CAV1	ORPHA:220402
HP:0002206	Pulmonary fibrosis	857	CAV1	ORPHA:220393
HP:0002206	Pulmonary fibrosis	3123	HLA-DRB1	ORPHA:220402
HP:0002206	Pulmonary fibrosis	3123	HLA-DRB1	OMIM:181000
HP:0002206	Pulmonary fibrosis	3123	HLA-DRB1	ORPHA:220393
HP:0002206	Pulmonary fibrosis	3123	HLA-DRB1	ORPHA:797
HP:0002206	Pulmonary fibrosis	5339	PLEC	ORPHA:254361
HP:0002206	Pulmonary fibrosis	3106	HLA-B	ORPHA:29207
HP:0002206	Pulmonary fibrosis	51750	RTEL1	OMIM:616373
HP:0002206	Pulmonary fibrosis	51750	RTEL1	ORPHA:2032
HP:0002206	Pulmonary fibrosis	89781	HPS4	OMIM:614073
HP:0002206	Pulmonary fibrosis	374354	NHLRC2	OMIM:618278
HP:0002206	Pulmonary fibrosis	55596	ZCCHC8	OMIM:618674
HP:0002206	Pulmonary fibrosis	5073	PARN	OMIM:616371
HP:0002206	Pulmonary fibrosis	5073	PARN	ORPHA:2032
HP:0002206	Pulmonary fibrosis	6440	SFTPC	OMIM:178500
HP:0002206	Pulmonary fibrosis	6440	SFTPC	OMIM:610913
HP:0002206	Pulmonary fibrosis	6440	SFTPC	ORPHA:2032
HP:0002206	Pulmonary fibrosis	727897	MUC5B	OMIM:178500
HP:0002206	Pulmonary fibrosis	727897	MUC5B	ORPHA:2032
HP:0002206	Pulmonary fibrosis	729238	SFTPA2	OMIM:178500
HP:0002206	Pulmonary fibrosis	729238	SFTPA2	ORPHA:2032
HP:0002206	Pulmonary fibrosis	60468	BACH2	OMIM:618394
HP:0002206	Pulmonary fibrosis	4141	MARS1	OMIM:615486
HP:0002206	Pulmonary fibrosis	79803	HPS6	OMIM:614075
HP:0002206	Pulmonary fibrosis	137682	NDUFAF6	OMIM:618913
HP:0002206	Pulmonary fibrosis	137682	NDUFAF6	ORPHA:3337
HP:0002206	Pulmonary fibrosis	3557	IL1RN	OMIM:612852
HP:0002206	Pulmonary fibrosis	6117	RPA1	OMIM:619767
HP:0002206	Pulmonary fibrosis	26277	TINF2	OMIM:127550
HP:0002206	Pulmonary fibrosis	26277	TINF2	OMIM:613990
HP:0002206	Pulmonary fibrosis	1962	EHHADH	ORPHA:3337
HP:0002206	Pulmonary fibrosis	2628	GATM	ORPHA:3337
HP:0002206	Pulmonary fibrosis	6569	SLC34A1	ORPHA:3337
HP:0002206	Pulmonary fibrosis	10577	NPC2	OMIM:607625
HP:0002206	Pulmonary fibrosis	2629	GBA1	ORPHA:2072
HP:0002206	Pulmonary fibrosis	7157	TP53	OMIM:618165
HP:0002206	Pulmonary fibrosis	56244	BTNL2	OMIM:612387
HP:0002206	Pulmonary fibrosis	56244	BTNL2	ORPHA:797
HP:0002206	Pulmonary fibrosis	340061	STING1	OMIM:615934
HP:0002206	Pulmonary fibrosis	79991	STN1	ORPHA:2032
HP:0002206	Pulmonary fibrosis	653509	SFTPA1	ORPHA:2032
HP:0002206	Pulmonary fibrosis	21	ABCA3	ORPHA:2032
HP:0002206	Pulmonary fibrosis	21	ABCA3	OMIM:610921
HP:0002206	Pulmonary fibrosis	1832	DSP	ORPHA:2032
HP:0002206	Pulmonary fibrosis	10144	FAM13A	ORPHA:2032
HP:0002206	Pulmonary fibrosis	23250	ATP11A	ORPHA:2032
HP:0002206	Pulmonary fibrosis	91039	DPP9	ORPHA:2032
HP:0002206	Pulmonary fibrosis	7080	NKX2-1	ORPHA:209905
HP:0002206	Pulmonary fibrosis	7080	NKX2-1	OMIM:610978
HP:0002206	Pulmonary fibrosis	3431	SP110	ORPHA:79124
HP:0002206	Pulmonary fibrosis	8546	AP3B1	OMIM:608233
HP:0002206	Pulmonary fibrosis	29893	PSMC3IP	ORPHA:243
HP:0002206	Pulmonary fibrosis	171568	POLR3H	ORPHA:243
HP:0002206	Pulmonary fibrosis	2516	NR5A1	ORPHA:243
HP:0002206	Pulmonary fibrosis	125150	ZSWIM7	ORPHA:243
HP:0002206	Pulmonary fibrosis	9210	BMP15	ORPHA:243
HP:0002206	Pulmonary fibrosis	57122	NUP107	ORPHA:243
HP:0002206	Pulmonary fibrosis	23514	SPIDR	ORPHA:243
HP:0002206	Pulmonary fibrosis	2492	FSHR	ORPHA:243
HP:0002206	Pulmonary fibrosis	56945	MRPS22	ORPHA:243
HP:0002206	Pulmonary fibrosis	646	BNC1	ORPHA:243
HP:0002206	Pulmonary fibrosis	10568	SLC34A2	ORPHA:60025
HP:0002206	Pulmonary fibrosis	80169	CTC1	OMIM:612199
HP:0002206	Pulmonary fibrosis	79415	CYBC1	OMIM:618935
HP:0002206	Pulmonary fibrosis	57187	THOC2	ORPHA:457240
HP:0002206	Pulmonary fibrosis	165918	RNF168	OMIM:611943
HP:0002206	Pulmonary fibrosis	165918	RNF168	ORPHA:420741
HP:0002206	Pulmonary fibrosis	374393	FAM111B	OMIM:615704
HP:0006524	Tracheobronchial leiomyomatosis	1288	COL4A6	ORPHA:1018
HP:0006524	Tracheobronchial leiomyomatosis	1287	COL4A5	ORPHA:1018
HP:0002101	Abnormal lung lobation	3930	LBR	OMIM:215140
HP:0002101	Abnormal lung lobation	2737	GLI3	ORPHA:672
HP:0002101	Abnormal lung lobation	2737	GLI3	OMIM:146510
HP:0002101	Abnormal lung lobation	2294	FOXF1	OMIM:265380
HP:0002101	Abnormal lung lobation	137814	NKX2-6	ORPHA:3384
HP:0002101	Abnormal lung lobation	23129	PLXND1	ORPHA:3384
HP:0002101	Abnormal lung lobation	341640	FREM2	ORPHA:2052
HP:0002101	Abnormal lung lobation	80144	FRAS1	ORPHA:2052
HP:0002101	Abnormal lung lobation	23426	GRIP1	ORPHA:2052
HP:0002101	Abnormal lung lobation	23426	GRIP1	OMIM:617667
HP:0002101	Abnormal lung lobation	2657	GDF1	OMIM:208530
HP:0002101	Abnormal lung lobation	2187	FANCB	OMIM:300514
HP:0002101	Abnormal lung lobation	51604	PIGT	ORPHA:369837
HP:0002101	Abnormal lung lobation	284086	NEK8	OMIM:615415
HP:0002101	Abnormal lung lobation	1312	COMT	ORPHA:567
HP:0002101	Abnormal lung lobation	221037	JMJD1C	ORPHA:567
HP:0002101	Abnormal lung lobation	2812	GP1BB	ORPHA:567
HP:0002101	Abnormal lung lobation	6239	RREB1	ORPHA:567
HP:0002101	Abnormal lung lobation	6899	TBX1	ORPHA:567
HP:0002101	Abnormal lung lobation	7290	HIRA	ORPHA:567
HP:0002101	Abnormal lung lobation	9632	SEC24C	ORPHA:567
HP:0002101	Abnormal lung lobation	7353	UFD1	ORPHA:567
HP:0002101	Abnormal lung lobation	421	ARVCF	ORPHA:567
HP:0002101	Abnormal lung lobation	7473	WNT3	ORPHA:3301
HP:0002101	Abnormal lung lobation	340419	RSPO2	ORPHA:3301
HP:0002101	Abnormal lung lobation	219844	HYLS1	OMIM:236680
HP:0002101	Abnormal lung lobation	5728	PTEN	ORPHA:744
HP:0002101	Abnormal lung lobation	207	AKT1	ORPHA:744
HP:0002101	Abnormal lung lobation	22827	PUF60	ORPHA:508488
HP:0002101	Abnormal lung lobation	1717	DHCR7	OMIM:270400
HP:0002101	Abnormal lung lobation	1717	DHCR7	ORPHA:818
HP:0002101	Abnormal lung lobation	79796	ALG9	ORPHA:79328
HP:0002101	Abnormal lung lobation	79796	ALG9	OMIM:263210
HP:0002101	Abnormal lung lobation	7490	WT1	ORPHA:3097
HP:0002101	Abnormal lung lobation	9184	BUB3	ORPHA:1052
HP:0002101	Abnormal lung lobation	699	BUB1	ORPHA:1052
HP:0002101	Abnormal lung lobation	9702	CEP57	ORPHA:1052
HP:0002101	Abnormal lung lobation	9702	CEP57	OMIM:614114
HP:0002101	Abnormal lung lobation	9319	TRIP13	ORPHA:1052
HP:0002101	Abnormal lung lobation	701	BUB1B	ORPHA:1052
HP:0002101	Abnormal lung lobation	10436	EMG1	ORPHA:1270
HP:0002101	Abnormal lung lobation	2719	GPC3	OMIM:312870
HP:0002101	Abnormal lung lobation	2239	GPC4	OMIM:312870
HP:0002101	Abnormal lung lobation	7547	ZIC3	OMIM:306955
HP:0002101	Abnormal lung lobation	1147	CHUK	OMIM:613630
HP:0002101	Abnormal lung lobation	4838	NODAL	OMIM:270100
HP:0002101	Abnormal lung lobation	57545	CC2D2A	OMIM:612284
HP:0002101	Abnormal lung lobation	4212	MEIS2	OMIM:600987
HP:0006527	Lymphocytic interstitial pneumonia	3115	HLA-DPB1	ORPHA:133
HP:0006527	Lymphocytic interstitial pneumonia	6777	STAT5B	OMIM:245590
HP:0006527	Lymphocytic interstitial pneumonia	3560	IL2RB	OMIM:618495
HP:0006528	Chronic lung disease	2212	FCGR2A	OMIM:219700
HP:0006528	Chronic lung disease	7040	TGFB1	OMIM:219700
HP:0006528	Chronic lung disease	1080	CFTR	OMIM:219700
HP:0006528	Chronic lung disease	10664	CTCF	ORPHA:363611
HP:0006528	Chronic lung disease	27040	LAT	OMIM:617514
HP:0006528	Chronic lung disease	2260	FGFR1	ORPHA:220386
HP:0006528	Chronic lung disease	2260	FGFR1	ORPHA:93924
HP:0006528	Chronic lung disease	28514	DLL1	ORPHA:220386
HP:0006528	Chronic lung disease	28514	DLL1	ORPHA:93926
HP:0006528	Chronic lung disease	28514	DLL1	ORPHA:93924
HP:0006528	Chronic lung disease	28514	DLL1	ORPHA:93925
HP:0006528	Chronic lung disease	10735	STAG2	ORPHA:220386
HP:0006528	Chronic lung disease	10735	STAG2	ORPHA:93925
HP:0006528	Chronic lung disease	2253	FGF8	ORPHA:220386
HP:0006528	Chronic lung disease	2253	FGF8	ORPHA:93926
HP:0006528	Chronic lung disease	2253	FGF8	ORPHA:93924
HP:0006528	Chronic lung disease	2253	FGF8	ORPHA:93925
HP:0006528	Chronic lung disease	8243	SMC1A	ORPHA:220386
HP:0006528	Chronic lung disease	6496	SIX3	ORPHA:220386
HP:0006528	Chronic lung disease	6496	SIX3	ORPHA:93926
HP:0006528	Chronic lung disease	6496	SIX3	ORPHA:93924
HP:0006528	Chronic lung disease	6496	SIX3	ORPHA:93925
HP:0006528	Chronic lung disease	7050	TGIF1	ORPHA:220386
HP:0006528	Chronic lung disease	7050	TGIF1	ORPHA:93926
HP:0006528	Chronic lung disease	7050	TGIF1	ORPHA:93924
HP:0006528	Chronic lung disease	7050	TGIF1	ORPHA:93925
HP:0006528	Chronic lung disease	4838	NODAL	ORPHA:220386
HP:0006528	Chronic lung disease	4838	NODAL	ORPHA:93926
HP:0006528	Chronic lung disease	4838	NODAL	ORPHA:93924
HP:0006528	Chronic lung disease	4838	NODAL	ORPHA:93925
HP:0006528	Chronic lung disease	6469	SHH	ORPHA:220386
HP:0006528	Chronic lung disease	6469	SHH	ORPHA:93926
HP:0006528	Chronic lung disease	6469	SHH	ORPHA:93924
HP:0006528	Chronic lung disease	6469	SHH	ORPHA:93925
HP:0006528	Chronic lung disease	7546	ZIC2	ORPHA:220386
HP:0006528	Chronic lung disease	7546	ZIC2	ORPHA:93926
HP:0006528	Chronic lung disease	7546	ZIC2	ORPHA:93924
HP:0006528	Chronic lung disease	7546	ZIC2	ORPHA:93925
HP:0006528	Chronic lung disease	6491	STIL	ORPHA:220386
HP:0006528	Chronic lung disease	6491	STIL	ORPHA:93926
HP:0006528	Chronic lung disease	6491	STIL	ORPHA:93924
HP:0006528	Chronic lung disease	6491	STIL	ORPHA:93925
HP:0006528	Chronic lung disease	2619	GAS1	ORPHA:220386
HP:0006528	Chronic lung disease	2619	GAS1	ORPHA:93926
HP:0006528	Chronic lung disease	2619	GAS1	ORPHA:93924
HP:0006528	Chronic lung disease	2619	GAS1	ORPHA:93925
HP:0006528	Chronic lung disease	84976	DISP1	ORPHA:220386
HP:0006528	Chronic lung disease	84976	DISP1	ORPHA:93926
HP:0006528	Chronic lung disease	84976	DISP1	ORPHA:93924
HP:0006528	Chronic lung disease	84976	DISP1	ORPHA:93925
HP:0006528	Chronic lung disease	2736	GLI2	ORPHA:220386
HP:0006528	Chronic lung disease	2736	GLI2	ORPHA:93926
HP:0006528	Chronic lung disease	2736	GLI2	ORPHA:93924
HP:0006528	Chronic lung disease	2736	GLI2	ORPHA:93925
HP:0006528	Chronic lung disease	8928	FOXH1	ORPHA:220386
HP:0006528	Chronic lung disease	8928	FOXH1	ORPHA:93926
HP:0006528	Chronic lung disease	8928	FOXH1	ORPHA:93924
HP:0006528	Chronic lung disease	8928	FOXH1	ORPHA:93925
HP:0006528	Chronic lung disease	5727	PTCH1	ORPHA:220386
HP:0006528	Chronic lung disease	5727	PTCH1	ORPHA:93926
HP:0006528	Chronic lung disease	5727	PTCH1	ORPHA:93924
HP:0006528	Chronic lung disease	5727	PTCH1	ORPHA:93925
HP:0006528	Chronic lung disease	50937	CDON	ORPHA:220386
HP:0006528	Chronic lung disease	50937	CDON	ORPHA:93926
HP:0006528	Chronic lung disease	50937	CDON	ORPHA:93924
HP:0006528	Chronic lung disease	50937	CDON	ORPHA:93925
HP:0006528	Chronic lung disease	27125	AFF4	OMIM:616368
HP:0006528	Chronic lung disease	27125	AFF4	ORPHA:444077
HP:0006528	Chronic lung disease	5557	PRIM1	OMIM:620005
HP:0006528	Chronic lung disease	6439	SFTPB	ORPHA:217563
HP:0006528	Chronic lung disease	987	LRBA	OMIM:614700
HP:0006528	Chronic lung disease	8737	RIPK1	OMIM:618108
HP:0006528	Chronic lung disease	83737	ITCH	ORPHA:228426
HP:0006528	Chronic lung disease	83737	ITCH	OMIM:613385
HP:0006528	Chronic lung disease	55901	THSD1	OMIM:620244
HP:0006528	Chronic lung disease	84992	PIGY	OMIM:616809
HP:0006528	Chronic lung disease	79848	CSPP1	ORPHA:397715
HP:0006528	Chronic lung disease	9786	KIAA0586	ORPHA:397715
HP:0006528	Chronic lung disease	374879	ZNF699	OMIM:619488
HP:0006528	Chronic lung disease	115399	LRRC56	OMIM:618254
HP:0006528	Chronic lung disease	5184	PEPD	OMIM:170100
HP:0006528	Chronic lung disease	641	BLM	OMIM:210900
HP:0006528	Chronic lung disease	23007	PLCH1	ORPHA:93925
HP:0006528	Chronic lung disease	871	SERPINH1	OMIM:613848
HP:0006528	Chronic lung disease	2304	FOXE1	ORPHA:319487
HP:0006528	Chronic lung disease	3026	HABP2	ORPHA:319487
HP:0006528	Chronic lung disease	9562	MINPP1	ORPHA:319487
HP:0006529	Abnormal pulmonary lymphatics	54345	SOX18	OMIM:137940
HP:0006529	Abnormal pulmonary lymphatics	79633	FAT4	OMIM:616006
HP:0006529	Abnormal pulmonary lymphatics	79633	FAT4	ORPHA:2136
HP:0006529	Abnormal pulmonary lymphatics	9508	ADAMTS3	ORPHA:2136
HP:0006529	Abnormal pulmonary lymphatics	147372	CCBE1	ORPHA:2136
HP:0006529	Abnormal pulmonary lymphatics	147372	CCBE1	OMIM:235510
HP:0006529	Abnormal pulmonary lymphatics	2294	FOXF1	OMIM:265380
HP:0006531	Pleural lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0006532	Recurrent pneumonia	100	ADA	ORPHA:277
HP:0006532	Recurrent pneumonia	100	ADA	OMIM:102700
HP:0006532	Recurrent pneumonia	3476	IGBP1	OMIM:300472
HP:0006532	Recurrent pneumonia	2137	EXTL3	ORPHA:508533
HP:0006532	Recurrent pneumonia	4921	DDR2	OMIM:271665
HP:0006532	Recurrent pneumonia	3763	KCNJ6	ORPHA:435628
HP:0006532	Recurrent pneumonia	3763	KCNJ6	OMIM:614098
HP:0006532	Recurrent pneumonia	83538	ODAD4	OMIM:617092
HP:0006532	Recurrent pneumonia	4791	NFKB2	ORPHA:293978
HP:0006532	Recurrent pneumonia	4791	NFKB2	OMIM:615577
HP:0006532	Recurrent pneumonia	695	BTK	OMIM:300755
HP:0006532	Recurrent pneumonia	695	BTK	ORPHA:47
HP:0006532	Recurrent pneumonia	5351	PLOD1	OMIM:225400
HP:0006532	Recurrent pneumonia	5351	PLOD1	ORPHA:1900
HP:0006532	Recurrent pneumonia	6477	SIAH1	OMIM:619314
HP:0006532	Recurrent pneumonia	4683	NBN	OMIM:251260
HP:0006532	Recurrent pneumonia	4683	NBN	ORPHA:647
HP:0006532	Recurrent pneumonia	4688	NCF2	OMIM:233710
HP:0006532	Recurrent pneumonia	8425	LTBP4	OMIM:613177
HP:0006532	Recurrent pneumonia	2622	GAS8	OMIM:616726
HP:0006532	Recurrent pneumonia	5238	PGM3	ORPHA:443811
HP:0006532	Recurrent pneumonia	27148	STK36	OMIM:619436
HP:0006532	Recurrent pneumonia	5880	RAC2	OMIM:618986
HP:0006532	Recurrent pneumonia	11133	KPTN	OMIM:615637
HP:0006532	Recurrent pneumonia	11133	KPTN	ORPHA:397612
HP:0006532	Recurrent pneumonia	57539	WDR35	OMIM:613610
HP:0006532	Recurrent pneumonia	81857	MED25	OMIM:616449
HP:0006532	Recurrent pneumonia	81857	MED25	ORPHA:464738
HP:0006532	Recurrent pneumonia	100151683	RNU4ATAC	ORPHA:353298
HP:0006532	Recurrent pneumonia	100151683	RNU4ATAC	OMIM:616651
HP:0006532	Recurrent pneumonia	987	LRBA	OMIM:614700
HP:0006532	Recurrent pneumonia	755	CFAP410	OMIM:602271
HP:0006532	Recurrent pneumonia	9094	UNC119	OMIM:615518
HP:0006532	Recurrent pneumonia	126792	B3GALT6	OMIM:609465
HP:0006532	Recurrent pneumonia	79650	USB1	OMIM:604173
HP:0006532	Recurrent pneumonia	5293	PIK3CD	OMIM:619281
HP:0006532	Recurrent pneumonia	6720	SREBF1	OMIM:158310
HP:0006532	Recurrent pneumonia	1302	COL11A2	OMIM:215150
HP:0006532	Recurrent pneumonia	54768	HYDIN	OMIM:608647
HP:0006532	Recurrent pneumonia	4522	MTHFD1	OMIM:617780
HP:0006532	Recurrent pneumonia	161582	DNAAF4	OMIM:615482
HP:0006532	Recurrent pneumonia	3561	IL2RG	OMIM:300400
HP:0006532	Recurrent pneumonia	9948	WDR1	OMIM:150550
HP:0006532	Recurrent pneumonia	939	CD27	OMIM:615122
HP:0006532	Recurrent pneumonia	23149	FCHO1	OMIM:619164
HP:0006532	Recurrent pneumonia	10157	AASS	ORPHA:2203
HP:0006532	Recurrent pneumonia	5184	PEPD	OMIM:170100
HP:0006532	Recurrent pneumonia	65082	VPS33A	OMIM:617303
HP:0006532	Recurrent pneumonia	4790	NFKB1	OMIM:616576
HP:0006532	Recurrent pneumonia	3543	IGLL1	OMIM:613500
HP:0006532	Recurrent pneumonia	29760	BLNK	OMIM:613502
HP:0006532	Recurrent pneumonia	79158	GNPTAB	OMIM:252500
HP:0006532	Recurrent pneumonia	8382	NME5	OMIM:620032
HP:0006532	Recurrent pneumonia	6440	SFTPC	OMIM:610913
HP:0006532	Recurrent pneumonia	3417	IDH1	ORPHA:99646
HP:0006532	Recurrent pneumonia	6904	TBCD	ORPHA:496641
HP:0006532	Recurrent pneumonia	6595	SMARCA2	OMIM:619293
HP:0006532	Recurrent pneumonia	2212	FCGR2A	OMIM:219700
HP:0006532	Recurrent pneumonia	7040	TGFB1	OMIM:219700
HP:0006532	Recurrent pneumonia	1080	CFTR	OMIM:219700
HP:0006532	Recurrent pneumonia	915	CD3D	ORPHA:169160
HP:0006532	Recurrent pneumonia	916	CD3E	ORPHA:169160
HP:0006532	Recurrent pneumonia	919	CD247	ORPHA:169160
HP:0006532	Recurrent pneumonia	919	CD247	OMIM:610163
HP:0006532	Recurrent pneumonia	4001	LMNB1	OMIM:619179
HP:0006532	Recurrent pneumonia	7084	TK2	ORPHA:254875
HP:0006532	Recurrent pneumonia	23495	TNFRSF13B	OMIM:240500
HP:0006532	Recurrent pneumonia	115650	TNFRSF13C	OMIM:240500
HP:0006532	Recurrent pneumonia	115650	TNFRSF13C	OMIM:613494
HP:0006532	Recurrent pneumonia	1380	CR2	OMIM:240500
HP:0006532	Recurrent pneumonia	29851	ICOS	OMIM:240500
HP:0006532	Recurrent pneumonia	29851	ICOS	OMIM:607594
HP:0006532	Recurrent pneumonia	930	CD19	OMIM:240500
HP:0006532	Recurrent pneumonia	1956	EGFR	OMIM:616069
HP:0006532	Recurrent pneumonia	3952	LEP	OMIM:614962
HP:0006532	Recurrent pneumonia	8792	TNFRSF11A	OMIM:612301
HP:0006532	Recurrent pneumonia	10095	ARPC1B	OMIM:617718
HP:0006532	Recurrent pneumonia	7840	ALMS1	OMIM:203800
HP:0006532	Recurrent pneumonia	7840	ALMS1	ORPHA:64
HP:0006532	Recurrent pneumonia	7080	NKX2-1	ORPHA:209905
HP:0006532	Recurrent pneumonia	8546	AP3B1	OMIM:608233
HP:0006532	Recurrent pneumonia	79087	ALG12	OMIM:607143
HP:0006532	Recurrent pneumonia	79087	ALG12	ORPHA:79324
HP:0006532	Recurrent pneumonia	6899	TBX1	OMIM:188400
HP:0006532	Recurrent pneumonia	7852	CXCR4	ORPHA:51636
HP:0006532	Recurrent pneumonia	54681	P4HTM	OMIM:618493
HP:0006532	Recurrent pneumonia	146206	CARMIL2	OMIM:618131
HP:0006532	Recurrent pneumonia	79415	CYBC1	OMIM:618935
HP:0006532	Recurrent pneumonia	653361	NCF1	OMIM:233700
HP:0006532	Recurrent pneumonia	23594	ORC6	OMIM:613803
HP:0006532	Recurrent pneumonia	26040	SETBP1	ORPHA:798
HP:0006532	Recurrent pneumonia	55036	CCDC40	OMIM:613808
HP:0006532	Recurrent pneumonia	339829	CCDC39	OMIM:613807
HP:0006532	Recurrent pneumonia	2074	ERCC6	OMIM:214150
HP:0006532	Recurrent pneumonia	2328	FMO3	OMIM:602079
HP:0006532	Recurrent pneumonia	7454	WAS	OMIM:301000
HP:0006532	Recurrent pneumonia	3572	IL6ST	OMIM:619752
HP:0006532	Recurrent pneumonia	3572	IL6ST	OMIM:619750
HP:0006532	Recurrent pneumonia	2588	GALNS	OMIM:253000
HP:0006532	Recurrent pneumonia	718	C3	OMIM:613779
HP:0006532	Recurrent pneumonia	4796	TONSL	ORPHA:93357
HP:0006532	Recurrent pneumonia	3507	IGHM	OMIM:601495
HP:0006532	Recurrent pneumonia	6774	STAT3	OMIM:147060
HP:0006532	Recurrent pneumonia	57169	ZNFX1	OMIM:619644
HP:0006532	Recurrent pneumonia	5971	RELB	OMIM:617585
HP:0006532	Recurrent pneumonia	974	CD79B	OMIM:612692
HP:0006532	Recurrent pneumonia	50615	IL21R	OMIM:615207
HP:0006532	Recurrent pneumonia	8701	DNAH11	OMIM:611884
HP:0006532	Recurrent pneumonia	51341	ZBTB7A	OMIM:619769
HP:0006532	Recurrent pneumonia	3718	JAK3	ORPHA:35078
HP:0006532	Recurrent pneumonia	199221	DZIP1L	ORPHA:731
HP:0006532	Recurrent pneumonia	5314	PKHD1	ORPHA:731
HP:0006532	Recurrent pneumonia	55343	SLC35C1	ORPHA:99843
HP:0006532	Recurrent pneumonia	84905	ZNF341	OMIM:618282
HP:0006532	Recurrent pneumonia	5422	POLA1	OMIM:301220
HP:0006532	Recurrent pneumonia	92749	DRC1	OMIM:615294
HP:0006532	Recurrent pneumonia	5317	PKP1	ORPHA:158668
HP:0006532	Recurrent pneumonia	54941	RNF125	OMIM:616260
HP:0006532	Recurrent pneumonia	3423	IDS	OMIM:309900
HP:0006532	Recurrent pneumonia	5879	RAC1	OMIM:617751
HP:0006532	Recurrent pneumonia	5879	RAC1	ORPHA:500159
HP:0006532	Recurrent pneumonia	6603	SMARCD2	OMIM:617475
HP:0006532	Recurrent pneumonia	55130	ODAD2	OMIM:615451
HP:0006532	Recurrent pneumonia	10747	MASP2	OMIM:613791
HP:0006532	Recurrent pneumonia	27040	LAT	OMIM:617514
HP:0006532	Recurrent pneumonia	4052	LTBP1	ORPHA:90349
HP:0006532	Recurrent pneumonia	30008	EFEMP2	ORPHA:90349
HP:0006532	Recurrent pneumonia	10516	FBLN5	ORPHA:90349
HP:0006532	Recurrent pneumonia	1535	CYBA	OMIM:233690
HP:0006532	Recurrent pneumonia	3514	IGKC	ORPHA:183675
HP:0006532	Recurrent pneumonia	3501	IGHG2	ORPHA:183675
HP:0006532	Recurrent pneumonia	1536	CYBB	OMIM:306400
HP:0006532	Recurrent pneumonia	81704	DOCK8	OMIM:243700
HP:0006532	Recurrent pneumonia	81570	CLPB	OMIM:616271
HP:0006532	Recurrent pneumonia	93233	ODAD1	OMIM:615067
HP:0006532	Recurrent pneumonia	57728	WDR19	OMIM:614378
HP:0006532	Recurrent pneumonia	721	C4B	OMIM:614379
HP:0006532	Recurrent pneumonia	1794	DOCK2	OMIM:616433
HP:0006532	Recurrent pneumonia	284119	CAVIN1	OMIM:613327
HP:0006532	Recurrent pneumonia	6929	TCF3	OMIM:619824
HP:0006532	Recurrent pneumonia	871	SERPINH1	OMIM:613848
HP:0006532	Recurrent pneumonia	55294	FBXW7	OMIM:620012
HP:0006532	Recurrent pneumonia	165918	RNF168	ORPHA:420741
HP:0006532	Recurrent pneumonia	5813	PURA	ORPHA:314655
HP:0006532	Recurrent pneumonia	64135	IFIH1	OMIM:619773
HP:0002097	Emphysema	10526	IPO8	OMIM:619472
HP:0002097	Emphysema	6340	SCNN1G	ORPHA:60033
HP:0002097	Emphysema	1080	CFTR	ORPHA:60033
HP:0002097	Emphysema	6337	SCNN1A	ORPHA:60033
HP:0002097	Emphysema	6338	SCNN1B	ORPHA:60033
HP:0002097	Emphysema	399	RHOH	OMIM:618307
HP:0002097	Emphysema	8425	LTBP4	OMIM:613177
HP:0002097	Emphysema	6890	TAP1	OMIM:604571
HP:0002097	Emphysema	6891	TAP2	OMIM:604571
HP:0002097	Emphysema	6892	TAPBP	OMIM:604571
HP:0002097	Emphysema	10056	FARSB	OMIM:613658
HP:0002097	Emphysema	2006	ELN	OMIM:123700
HP:0002097	Emphysema	2006	ELN	ORPHA:90348
HP:0002097	Emphysema	1776	DNASE1L3	ORPHA:36412
HP:0002097	Emphysema	2200	FBN1	ORPHA:284979
HP:0002097	Emphysema	2200	FBN1	OMIM:154700
HP:0002097	Emphysema	137682	NDUFAF6	OMIM:618913
HP:0002097	Emphysema	30008	EFEMP2	OMIM:614437
HP:0002097	Emphysema	30008	EFEMP2	ORPHA:90349
HP:0002097	Emphysema	7248	TSC1	ORPHA:538
HP:0002097	Emphysema	7249	TSC2	ORPHA:538
HP:0002097	Emphysema	1281	COL3A1	OMIM:130050
HP:0002097	Emphysema	3123	HLA-DRB1	OMIM:181000
HP:0002097	Emphysema	3123	HLA-DRB1	ORPHA:797
HP:0002097	Emphysema	4256	MGP	OMIM:245150
HP:0002097	Emphysema	23545	ATP6V0A2	ORPHA:357074
HP:0002097	Emphysema	23545	ATP6V0A2	ORPHA:2834
HP:0002097	Emphysema	523	ATP6V1A	ORPHA:357074
HP:0002097	Emphysema	529	ATP6V1E1	ORPHA:357074
HP:0002097	Emphysema	6651	SON	ORPHA:500150
HP:0002097	Emphysema	4998	ORC1	OMIM:224690
HP:0002097	Emphysema	10516	FBLN5	ORPHA:90348
HP:0002097	Emphysema	10516	FBLN5	ORPHA:90349
HP:0002097	Emphysema	10516	FBLN5	OMIM:219100
HP:0002097	Emphysema	5832	ALDH18A1	ORPHA:90348
HP:0002097	Emphysema	56244	BTNL2	OMIM:612387
HP:0002097	Emphysema	56244	BTNL2	ORPHA:797
HP:0002097	Emphysema	4052	LTBP1	ORPHA:90349
HP:0002097	Emphysema	2717	GLA	ORPHA:324
HP:0002097	Emphysema	201163	FLCN	ORPHA:122
HP:0002097	Emphysema	5566	PRKACA	ORPHA:289
HP:0002097	Emphysema	5567	PRKACB	ORPHA:289
HP:0002097	Emphysema	2735	GLI1	ORPHA:289
HP:0002097	Emphysema	2121	EVC	ORPHA:289
HP:0002097	Emphysema	51626	DYNC2LI1	ORPHA:289
HP:0002097	Emphysema	132884	EVC2	ORPHA:289
HP:0002097	Emphysema	4000	LMNA	ORPHA:363618
HP:0002097	Emphysema	51053	GMNN	OMIM:616835
HP:0002097	Emphysema	23495	TNFRSF13B	ORPHA:1572
HP:0002097	Emphysema	4790	NFKB1	ORPHA:1572
HP:0002097	Emphysema	4791	NFKB2	ORPHA:1572
HP:0002097	Emphysema	115650	TNFRSF13C	ORPHA:1572
HP:0002097	Emphysema	1380	CR2	ORPHA:1572
HP:0002097	Emphysema	8742	TNFSF12	ORPHA:1572
HP:0002097	Emphysema	5580	PRKCD	ORPHA:1572
HP:0002097	Emphysema	930	CD19	ORPHA:1572
HP:0002097	Emphysema	29851	ICOS	ORPHA:1572
HP:0002097	Emphysema	931	MS4A1	ORPHA:1572
HP:0002097	Emphysema	975	CD81	ORPHA:1572
HP:0002097	Emphysema	359948	IRF2BP2	ORPHA:1572
HP:0002097	Emphysema	7042	TGFB2	OMIM:614816
HP:0002097	Emphysema	81620	CDT1	OMIM:613804
HP:0002097	Emphysema	11005	SPINK5	ORPHA:634
HP:0002097	Emphysema	29775	CARD10	OMIM:619632
HP:0002097	Emphysema	64324	NSD1	ORPHA:821
HP:0002097	Emphysema	29072	SETD2	ORPHA:821
HP:0002097	Emphysema	10297	APC2	ORPHA:821
HP:0002097	Emphysema	5297	PI4KA	OMIM:619708
HP:0002097	Emphysema	5265	SERPINA1	OMIM:613490
HP:0002097	Emphysema	21	ABCA3	OMIM:610921
HP:0006535	Recurrent intrapulmonary hemorrhage	1281	COL3A1	OMIM:130050
HP:0006535	Recurrent intrapulmonary hemorrhage	7454	WAS	ORPHA:906
HP:0006535	Recurrent intrapulmonary hemorrhage	7456	WIPF1	ORPHA:906
HP:0006535	Recurrent intrapulmonary hemorrhage	1493	CTLA4	ORPHA:900
HP:0006535	Recurrent intrapulmonary hemorrhage	26191	PTPN22	ORPHA:900
HP:0006535	Recurrent intrapulmonary hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0006535	Recurrent intrapulmonary hemorrhage	5657	PRTN3	ORPHA:900
HP:0006535	Recurrent intrapulmonary hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0006548	Pulmonary arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0006548	Pulmonary arteriovenous malformation	2022	ENG	OMIM:187300
HP:0006548	Pulmonary arteriovenous malformation	857	CAV1	OMIM:606721
HP:0006548	Pulmonary arteriovenous malformation	4089	SMAD4	OMIM:175050
HP:0006538	Recurrent bronchopulmonary infections	65082	VPS33A	OMIM:617303
HP:0006538	Recurrent bronchopulmonary infections	2212	FCGR2A	OMIM:219700
HP:0006538	Recurrent bronchopulmonary infections	7040	TGFB1	OMIM:219700
HP:0006538	Recurrent bronchopulmonary infections	1080	CFTR	OMIM:219700
HP:0006538	Recurrent bronchopulmonary infections	28956	LAMTOR2	OMIM:610798
HP:0006538	Recurrent bronchopulmonary infections	28956	LAMTOR2	ORPHA:90023
HP:0006538	Recurrent bronchopulmonary infections	404672	GTF2H5	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	833	CARS1	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	2068	ERCC2	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	7737	RNF113A	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	136647	MPLKIP	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	6897	TARS1	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	2071	ERCC3	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	2961	GTF2E2	ORPHA:33364
HP:0006538	Recurrent bronchopulmonary infections	79650	USB1	OMIM:604173
HP:0010959	Congenital pulmonary airway malformation	5297	PI4KA	ORPHA:436252
HP:0010959	Congenital pulmonary airway malformation	57217	TTC7A	ORPHA:436252
HP:0010959	Congenital pulmonary airway malformation	57217	TTC7A	OMIM:243150
HP:0010959	Congenital pulmonary airway malformation	54361	WNT4	OMIM:611812
HP:0002093	Respiratory insufficiency	9131	AIFM1	ORPHA:238329
HP:0002093	Respiratory insufficiency	3763	KCNJ6	ORPHA:435628
HP:0002093	Respiratory insufficiency	3763	KCNJ6	OMIM:614098
HP:0002093	Respiratory insufficiency	54539	NDUFB11	ORPHA:2609
HP:0002093	Respiratory insufficiency	25915	NDUFAF3	ORPHA:2609
HP:0002093	Respiratory insufficiency	51103	NDUFAF1	ORPHA:2609
HP:0002093	Respiratory insufficiency	91942	NDUFAF2	ORPHA:2609
HP:0002093	Respiratory insufficiency	51300	TIMMDC1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4716	NDUFB10	ORPHA:2609
HP:0002093	Respiratory insufficiency	4723	NDUFV1	ORPHA:2609
HP:0002093	Respiratory insufficiency	55572	FOXRED1	ORPHA:2609
HP:0002093	Respiratory insufficiency	55572	FOXRED1	OMIM:618241
HP:0002093	Respiratory insufficiency	284184	NDUFAF8	ORPHA:2609
HP:0002093	Respiratory insufficiency	55863	TMEM126B	ORPHA:2609
HP:0002093	Respiratory insufficiency	4535	MT-ND1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4537	MT-ND3	ORPHA:2609
HP:0002093	Respiratory insufficiency	4729	NDUFV2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4694	NDUFA1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4720	NDUFS2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4720	NDUFS2	OMIM:618228
HP:0002093	Respiratory insufficiency	4724	NDUFS4	ORPHA:2609
HP:0002093	Respiratory insufficiency	4724	NDUFS4	OMIM:252010
HP:0002093	Respiratory insufficiency	4726	NDUFS6	ORPHA:2609
HP:0002093	Respiratory insufficiency	4728	NDUFS8	ORPHA:2609
HP:0002093	Respiratory insufficiency	4728	NDUFS8	OMIM:618222
HP:0002093	Respiratory insufficiency	4722	NDUFS3	ORPHA:2609
HP:0002093	Respiratory insufficiency	4722	NDUFS3	OMIM:618230
HP:0002093	Respiratory insufficiency	79133	NDUFAF5	ORPHA:2609
HP:0002093	Respiratory insufficiency	126328	NDUFA11	ORPHA:2609
HP:0002093	Respiratory insufficiency	4709	NDUFB3	ORPHA:2609
HP:0002093	Respiratory insufficiency	80224	NUBPL	ORPHA:2609
HP:0002093	Respiratory insufficiency	29078	NDUFAF4	ORPHA:2609
HP:0002093	Respiratory insufficiency	374291	NDUFS7	ORPHA:2609
HP:0002093	Respiratory insufficiency	374291	NDUFS7	OMIM:618224
HP:0002093	Respiratory insufficiency	4700	NDUFA6	ORPHA:2609
HP:0002093	Respiratory insufficiency	4700	NDUFA6	OMIM:618253
HP:0002093	Respiratory insufficiency	4536	MT-ND2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4719	NDUFS1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4719	NDUFS1	OMIM:618226
HP:0002093	Respiratory insufficiency	4715	NDUFB9	ORPHA:2609
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616322
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616321
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616323
HP:0002093	Respiratory insufficiency	10046	MAMLD1	ORPHA:456328
HP:0002093	Respiratory insufficiency	4534	MTM1	ORPHA:456328
HP:0002093	Respiratory insufficiency	8506	CNTNAP1	OMIM:618186
HP:0002093	Respiratory insufficiency	5393	EXOSC9	OMIM:618065
HP:0002093	Respiratory insufficiency	4750	NEK1	OMIM:617892
HP:0002093	Respiratory insufficiency	29925	GMPPB	OMIM:615352
HP:0002093	Respiratory insufficiency	29925	GMPPB	ORPHA:370968
HP:0002093	Respiratory insufficiency	29925	GMPPB	ORPHA:363623
HP:0002093	Respiratory insufficiency	51569	UFM1	OMIM:617899
HP:0002093	Respiratory insufficiency	5913	RAPSN	OMIM:616326
HP:0002093	Respiratory insufficiency	5913	RAPSN	ORPHA:994
HP:0002093	Respiratory insufficiency	5913	RAPSN	OMIM:618388
HP:0002093	Respiratory insufficiency	80308	FLAD1	OMIM:255100
HP:0002093	Respiratory insufficiency	4593	MUSK	OMIM:616325
HP:0002093	Respiratory insufficiency	4593	MUSK	ORPHA:994
HP:0002093	Respiratory insufficiency	1145	CHRNE	OMIM:616324
HP:0002093	Respiratory insufficiency	1593	CYP27A1	OMIM:213700
HP:0002093	Respiratory insufficiency	4625	MYH7	ORPHA:1880
HP:0002093	Respiratory insufficiency	4625	MYH7	OMIM:255160
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:93274
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:93262
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:1860
HP:0002093	Respiratory insufficiency	2261	FGFR3	OMIM:187601
HP:0002093	Respiratory insufficiency	3766	KCNJ10	ORPHA:705
HP:0002093	Respiratory insufficiency	2299	FOXI1	ORPHA:705
HP:0002093	Respiratory insufficiency	5172	SLC26A4	ORPHA:705
HP:0002093	Respiratory insufficiency	51	ACOX1	ORPHA:2971
HP:0002093	Respiratory insufficiency	64220	STRA6	OMIM:601186
HP:0002093	Respiratory insufficiency	79581	SLC52A2	OMIM:614707
HP:0002093	Respiratory insufficiency	57176	VARS2	OMIM:615917
HP:0002093	Respiratory insufficiency	9499	MYOT	ORPHA:266
HP:0002093	Respiratory insufficiency	2317	FLNB	ORPHA:56305
HP:0002093	Respiratory insufficiency	2317	FLNB	ORPHA:503
HP:0002093	Respiratory insufficiency	1373	CPS1	ORPHA:147
HP:0002093	Respiratory insufficiency	183	AGT	OMIM:267430
HP:0002093	Respiratory insufficiency	5972	REN	OMIM:267430
HP:0002093	Respiratory insufficiency	185	AGTR1	OMIM:267430
HP:0002093	Respiratory insufficiency	1636	ACE	OMIM:267430
HP:0002093	Respiratory insufficiency	2617	GARS1	OMIM:619042
HP:0002093	Respiratory insufficiency	6662	SOX9	ORPHA:140
HP:0002093	Respiratory insufficiency	55112	DYNC2I1	ORPHA:93271
HP:0002093	Respiratory insufficiency	55112	DYNC2I1	ORPHA:474
HP:0002093	Respiratory insufficiency	57560	IFT80	ORPHA:93271
HP:0002093	Respiratory insufficiency	57560	IFT80	ORPHA:474
HP:0002093	Respiratory insufficiency	57539	WDR35	ORPHA:93271
HP:0002093	Respiratory insufficiency	79659	DYNC2H1	ORPHA:93271
HP:0002093	Respiratory insufficiency	79659	DYNC2H1	ORPHA:474
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	ORPHA:93271
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	ORPHA:474
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	OMIM:615633
HP:0002093	Respiratory insufficiency	58	ACTA1	ORPHA:171436
HP:0002093	Respiratory insufficiency	58	ACTA1	OMIM:161800
HP:0002093	Respiratory insufficiency	58	ACTA1	ORPHA:97244
HP:0002093	Respiratory insufficiency	7169	TPM2	ORPHA:171436
HP:0002093	Respiratory insufficiency	4703	NEB	ORPHA:171436
HP:0002093	Respiratory insufficiency	10324	KLHL41	ORPHA:171436
HP:0002093	Respiratory insufficiency	10324	KLHL41	OMIM:615731
HP:0002093	Respiratory insufficiency	56203	LMOD3	ORPHA:171436
HP:0002093	Respiratory insufficiency	1073	CFL2	ORPHA:171436
HP:0002093	Respiratory insufficiency	4141	MARS1	OMIM:615486
HP:0002093	Respiratory insufficiency	375790	AGRN	OMIM:615120
HP:0002093	Respiratory insufficiency	4649	MYO9A	OMIM:618198
HP:0002093	Respiratory insufficiency	387787	LIPT2	OMIM:617668
HP:0002093	Respiratory insufficiency	84466	MEGF10	OMIM:614399
HP:0002093	Respiratory insufficiency	1410	CRYAB	OMIM:613869
HP:0002093	Respiratory insufficiency	55636	CHD7	ORPHA:138
HP:0002093	Respiratory insufficiency	9723	SEMA3E	ORPHA:138
HP:0002093	Respiratory insufficiency	3908	LAMA2	ORPHA:258
HP:0002093	Respiratory insufficiency	6440	SFTPC	OMIM:610913
HP:0002093	Respiratory insufficiency	1185	CLCN6	OMIM:619173
HP:0002093	Respiratory insufficiency	90	ACVR1	OMIM:135100
HP:0002093	Respiratory insufficiency	90	ACVR1	ORPHA:337
HP:0002093	Respiratory insufficiency	2273	FHL1	OMIM:300696
HP:0002093	Respiratory insufficiency	2263	FGFR2	ORPHA:87
HP:0002093	Respiratory insufficiency	2263	FGFR2	ORPHA:207
HP:0002093	Respiratory insufficiency	6023	RMRP	ORPHA:175
HP:0002093	Respiratory insufficiency	23321	TRIM2	OMIM:615490
HP:0002093	Respiratory insufficiency	92579	G6PC3	OMIM:612541
HP:0002093	Respiratory insufficiency	6773	STAT2	OMIM:618886
HP:0002093	Respiratory insufficiency	4352	MPL	ORPHA:729
HP:0002093	Respiratory insufficiency	3717	JAK2	ORPHA:729
HP:0002093	Respiratory insufficiency	54790	TET2	ORPHA:729
HP:0002093	Respiratory insufficiency	93627	TBCK	OMIM:616900
HP:0002093	Respiratory insufficiency	93627	TBCK	ORPHA:488632
HP:0002093	Respiratory insufficiency	55109	AGGF1	ORPHA:90308
HP:0002093	Respiratory insufficiency	1509	CTSD	OMIM:610127
HP:0002093	Respiratory insufficiency	5191	PEX7	OMIM:215100
HP:0002093	Respiratory insufficiency	5191	PEX7	ORPHA:773
HP:0002093	Respiratory insufficiency	3339	HSPG2	ORPHA:1865
HP:0002093	Respiratory insufficiency	3339	HSPG2	OMIM:224410
HP:0002093	Respiratory insufficiency	3339	HSPG2	ORPHA:800
HP:0002093	Respiratory insufficiency	8802	SUCLG1	OMIM:245400
HP:0002093	Respiratory insufficiency	1281	COL3A1	ORPHA:286
HP:0002093	Respiratory insufficiency	54968	TMEM70	OMIM:614052
HP:0002093	Respiratory insufficiency	88	ACTN2	OMIM:618654
HP:0002093	Respiratory insufficiency	7170	TPM3	OMIM:255310
HP:0002093	Respiratory insufficiency	7170	TPM3	OMIM:609284
HP:0002093	Respiratory insufficiency	246243	RNASEH1	OMIM:616479
HP:0002093	Respiratory insufficiency	388962	BOLA3	OMIM:614299
HP:0002093	Respiratory insufficiency	79583	TMEM231	OMIM:614970
HP:0002093	Respiratory insufficiency	1301	COL11A1	ORPHA:2021
HP:0002093	Respiratory insufficiency	1302	COL11A2	ORPHA:2021
HP:0002093	Respiratory insufficiency	3265	HRAS	OMIM:218040
HP:0002093	Respiratory insufficiency	113278	SLC52A3	OMIM:211530
HP:0002093	Respiratory insufficiency	788	SLC25A20	ORPHA:159
HP:0002093	Respiratory insufficiency	26160	IFT172	ORPHA:474
HP:0002093	Respiratory insufficiency	153241	CEP120	ORPHA:474
HP:0002093	Respiratory insufficiency	153241	CEP120	OMIM:616300
HP:0002093	Respiratory insufficiency	51626	DYNC2LI1	ORPHA:474
HP:0002093	Respiratory insufficiency	9742	IFT140	ORPHA:474
HP:0002093	Respiratory insufficiency	57728	WDR19	ORPHA:474
HP:0002093	Respiratory insufficiency	79809	TTC21B	ORPHA:474
HP:0002093	Respiratory insufficiency	3981	LIG4	ORPHA:235
HP:0002093	Respiratory insufficiency	54888	NSUN2	ORPHA:235
HP:0002093	Respiratory insufficiency	9056	SLC7A7	ORPHA:470
HP:0002093	Respiratory insufficiency	9056	SLC7A7	OMIM:222700
HP:0002093	Respiratory insufficiency	4204	MECP2	OMIM:300673
HP:0002093	Respiratory insufficiency	1836	SLC26A2	OMIM:600972
HP:0002093	Respiratory insufficiency	1836	SLC26A2	ORPHA:628
HP:0002093	Respiratory insufficiency	1836	SLC26A2	OMIM:256050
HP:0002093	Respiratory insufficiency	2200	FBN1	OMIM:614185
HP:0002093	Respiratory insufficiency	9453	GGPS1	OMIM:619518
HP:0002093	Respiratory insufficiency	9508	ADAMTS3	ORPHA:2136
HP:0002093	Respiratory insufficiency	147372	CCBE1	ORPHA:2136
HP:0002093	Respiratory insufficiency	79633	FAT4	ORPHA:2136
HP:0002093	Respiratory insufficiency	10290	SPEG	OMIM:615959
HP:0002093	Respiratory insufficiency	10290	SPEG	ORPHA:169186
HP:0002093	Respiratory insufficiency	10056	FARSB	OMIM:613658
HP:0002093	Respiratory insufficiency	1493	CTLA4	ORPHA:900
HP:0002093	Respiratory insufficiency	26191	PTPN22	ORPHA:900
HP:0002093	Respiratory insufficiency	3115	HLA-DPB1	ORPHA:900
HP:0002093	Respiratory insufficiency	3115	HLA-DPB1	ORPHA:133
HP:0002093	Respiratory insufficiency	5657	PRTN3	ORPHA:900
HP:0002093	Respiratory insufficiency	3113	HLA-DPA1	ORPHA:900
HP:0002093	Respiratory insufficiency	493856	CISD2	ORPHA:3463
HP:0002093	Respiratory insufficiency	7466	WFS1	ORPHA:3463
HP:0002093	Respiratory insufficiency	7466	WFS1	ORPHA:411590
HP:0002093	Respiratory insufficiency	4089	SMAD4	OMIM:139210
HP:0002093	Respiratory insufficiency	2548	GAA	ORPHA:308552
HP:0002093	Respiratory insufficiency	2548	GAA	OMIM:232300
HP:0002093	Respiratory insufficiency	11231	SEC63	ORPHA:2924
HP:0002093	Respiratory insufficiency	5589	PRKCSH	ORPHA:2924
HP:0002093	Respiratory insufficiency	4041	LRP5	ORPHA:2924
HP:0002093	Respiratory insufficiency	23396	PIP5K1C	OMIM:611369
HP:0002093	Respiratory insufficiency	2316	FLNA	ORPHA:2484
HP:0002093	Respiratory insufficiency	2316	FLNA	OMIM:304120
HP:0002093	Respiratory insufficiency	3662	IRF4	ORPHA:3452
HP:0002093	Respiratory insufficiency	7443	VRK1	OMIM:607596
HP:0002093	Respiratory insufficiency	26154	ABCA12	ORPHA:457
HP:0002093	Respiratory insufficiency	4000	LMNA	ORPHA:157973
HP:0002093	Respiratory insufficiency	197258	FCSK	OMIM:618324
HP:0002093	Respiratory insufficiency	259232	NALCN	OMIM:616266
HP:0002093	Respiratory insufficiency	56983	POGLUT1	OMIM:617232
HP:0002093	Respiratory insufficiency	125988	MICOS13	OMIM:618329
HP:0002093	Respiratory insufficiency	6572	SLC18A3	OMIM:617239
HP:0002093	Respiratory insufficiency	6572	SLC18A3	ORPHA:994
HP:0002093	Respiratory insufficiency	7317	UBA1	ORPHA:1145
HP:0002093	Respiratory insufficiency	7317	UBA1	OMIM:301830
HP:0002093	Respiratory insufficiency	4052	LTBP1	ORPHA:90349
HP:0002093	Respiratory insufficiency	30008	EFEMP2	ORPHA:90349
HP:0002093	Respiratory insufficiency	10516	FBLN5	ORPHA:90349
HP:0002093	Respiratory insufficiency	2744	GLS	OMIM:618328
HP:0002093	Respiratory insufficiency	81846	SBF2	ORPHA:99956
HP:0002093	Respiratory insufficiency	2318	FLNC	OMIM:609524
HP:0002093	Respiratory insufficiency	2260	FGFR1	ORPHA:2117
HP:0002093	Respiratory insufficiency	10262	SF3B4	ORPHA:245
HP:0002093	Respiratory insufficiency	4615	MYD88	ORPHA:33226
HP:0002093	Respiratory insufficiency	27247	NFU1	OMIM:605711
HP:0002093	Respiratory insufficiency	5428	POLG	OMIM:607459
HP:0002093	Respiratory insufficiency	5428	POLG	ORPHA:254892
HP:0002093	Respiratory insufficiency	56652	TWNK	OMIM:607459
HP:0002093	Respiratory insufficiency	56652	TWNK	ORPHA:254892
HP:0002093	Respiratory insufficiency	345643	MCIDAS	OMIM:618695
HP:0002093	Respiratory insufficiency	6576	SLC25A1	OMIM:615182
HP:0002093	Respiratory insufficiency	10568	SLC34A2	ORPHA:60025
HP:0002093	Respiratory insufficiency	51117	COQ4	OMIM:616276
HP:0002093	Respiratory insufficiency	57017	COQ9	OMIM:614654
HP:0002093	Respiratory insufficiency	10801	SEPTIN9	ORPHA:2901
HP:0002093	Respiratory insufficiency	5813	PURA	OMIM:616158
HP:0002093	Respiratory insufficiency	115948	ODAD3	OMIM:616037
HP:0002093	Respiratory insufficiency	58497	PRUNE1	ORPHA:544469
HP:0002093	Respiratory insufficiency	5081	PAX7	OMIM:618578
HP:0002093	Respiratory insufficiency	79628	SH3TC2	ORPHA:99949
HP:0002093	Respiratory insufficiency	55670	PEX26	ORPHA:912
HP:0002093	Respiratory insufficiency	5824	PEX19	ORPHA:912
HP:0002093	Respiratory insufficiency	5828	PEX2	ORPHA:912
HP:0002093	Respiratory insufficiency	8504	PEX3	ORPHA:912
HP:0002093	Respiratory insufficiency	8799	PEX11B	ORPHA:912
HP:0002093	Respiratory insufficiency	9409	PEX16	ORPHA:912
HP:0002093	Respiratory insufficiency	5190	PEX6	ORPHA:912
HP:0002093	Respiratory insufficiency	5830	PEX5	ORPHA:912
HP:0002093	Respiratory insufficiency	5189	PEX1	ORPHA:912
HP:0002093	Respiratory insufficiency	5193	PEX12	ORPHA:912
HP:0002093	Respiratory insufficiency	5194	PEX13	ORPHA:912
HP:0002093	Respiratory insufficiency	5195	PEX14	ORPHA:912
HP:0002093	Respiratory insufficiency	5192	PEX10	ORPHA:912
HP:0002093	Respiratory insufficiency	389827	MYMK	OMIM:254940
HP:0002093	Respiratory insufficiency	59341	TRPV4	OMIM:181405
HP:0002093	Respiratory insufficiency	59341	TRPV4	OMIM:156530
HP:0002093	Respiratory insufficiency	2737	GLI3	ORPHA:672
HP:0002093	Respiratory insufficiency	7273	TTN	ORPHA:169186
HP:0002093	Respiratory insufficiency	291	SLC25A4	ORPHA:254892
HP:0002093	Respiratory insufficiency	11232	POLG2	ORPHA:254892
HP:0002093	Respiratory insufficiency	50484	RRM2B	ORPHA:254892
HP:0002093	Respiratory insufficiency	57190	SELENON	ORPHA:97244
HP:0002093	Respiratory insufficiency	1291	COL6A1	OMIM:254090
HP:0002093	Respiratory insufficiency	1292	COL6A2	OMIM:254090
HP:0002093	Respiratory insufficiency	1293	COL6A3	OMIM:254090
HP:0002093	Respiratory insufficiency	5351	PLOD1	OMIM:225400
HP:0002093	Respiratory insufficiency	2879	GPX4	ORPHA:93317
HP:0002093	Respiratory insufficiency	7167	TPI1	OMIM:615512
HP:0002093	Respiratory insufficiency	100151683	RNU4ATAC	OMIM:210710
HP:0002093	Respiratory insufficiency	1305	COL13A1	OMIM:616720
HP:0002093	Respiratory insufficiency	1798	DPAGT1	OMIM:608093
HP:0002093	Respiratory insufficiency	203547	VMA21	OMIM:310440
HP:0002093	Respiratory insufficiency	10102	TSFM	OMIM:610505
HP:0002093	Respiratory insufficiency	4173	MCM4	OMIM:609981
HP:0002093	Respiratory insufficiency	1908	EDN3	ORPHA:661
HP:0002093	Respiratory insufficiency	2668	GDNF	ORPHA:661
HP:0002093	Respiratory insufficiency	627	BDNF	ORPHA:661
HP:0002093	Respiratory insufficiency	283446	MYO1H	ORPHA:661
HP:0002093	Respiratory insufficiency	8929	PHOX2B	ORPHA:661
HP:0002093	Respiratory insufficiency	7707	ZNF148	OMIM:617260
HP:0002093	Respiratory insufficiency	3106	HLA-B	ORPHA:29207
HP:0002093	Respiratory insufficiency	26275	HIBCH	ORPHA:88639
HP:0002093	Respiratory insufficiency	23395	LARS2	OMIM:617021
HP:0002093	Respiratory insufficiency	23114	NFASC	OMIM:618356
HP:0002093	Respiratory insufficiency	92667	MGME1	OMIM:615084
HP:0002093	Respiratory insufficiency	63895	PIEZO2	OMIM:617146
HP:0002093	Respiratory insufficiency	5660	PSAP	ORPHA:139406
HP:0002093	Respiratory insufficiency	5660	PSAP	OMIM:611722
HP:0002093	Respiratory insufficiency	91869	RFT1	OMIM:612015
HP:0002093	Respiratory insufficiency	51010	EXOSC3	OMIM:614678
HP:0002093	Respiratory insufficiency	1959	EGR2	OMIM:605253
HP:0002093	Respiratory insufficiency	3930	LBR	ORPHA:779
HP:0002093	Respiratory insufficiency	4952	OCRL	ORPHA:534
HP:0002093	Respiratory insufficiency	79147	FKRP	ORPHA:370968
HP:0002093	Respiratory insufficiency	79147	FKRP	OMIM:613153
HP:0002093	Respiratory insufficiency	29954	POMT2	ORPHA:370968
HP:0002093	Respiratory insufficiency	29954	POMT2	OMIM:613156
HP:0002093	Respiratory insufficiency	9215	LARGE1	ORPHA:370968
HP:0002093	Respiratory insufficiency	10585	POMT1	ORPHA:370968
HP:0002093	Respiratory insufficiency	427	ASAH1	ORPHA:333
HP:0002093	Respiratory insufficiency	427	ASAH1	OMIM:228000
HP:0002093	Respiratory insufficiency	7084	TK2	ORPHA:254875
HP:0002093	Respiratory insufficiency	4704	NDUFA9	OMIM:618247
HP:0002093	Respiratory insufficiency	4705	NDUFA10	OMIM:618243
HP:0002093	Respiratory insufficiency	134701	RIPPLY2	ORPHA:2311
HP:0002093	Respiratory insufficiency	10683	DLL3	ORPHA:2311
HP:0002093	Respiratory insufficiency	3955	LFNG	ORPHA:2311
HP:0002093	Respiratory insufficiency	84667	HES7	ORPHA:2311
HP:0002093	Respiratory insufficiency	145873	MESP2	ORPHA:2311
HP:0002093	Respiratory insufficiency	1277	COL1A1	OMIM:166210
HP:0002093	Respiratory insufficiency	1277	COL1A1	ORPHA:1310
HP:0002093	Respiratory insufficiency	1278	COL1A2	OMIM:166210
HP:0002093	Respiratory insufficiency	2077	ERF	ORPHA:207
HP:0002093	Respiratory insufficiency	6606	SMN1	OMIM:253300
HP:0002093	Respiratory insufficiency	55750	AGK	OMIM:212350
HP:0002093	Respiratory insufficiency	2717	GLA	ORPHA:324
HP:0002093	Respiratory insufficiency	63931	MRPS14	OMIM:618378
HP:0002093	Respiratory insufficiency	3977	LIFR	OMIM:601559
HP:0002093	Respiratory insufficiency	5250	SLC25A3	OMIM:610773
HP:0002093	Respiratory insufficiency	9531	BAG3	OMIM:612954
HP:0002093	Respiratory insufficiency	7138	TNNT1	OMIM:605355
HP:0002093	Respiratory insufficiency	27130	INVS	OMIM:602088
HP:0002093	Respiratory insufficiency	1756	DMD	ORPHA:98896
HP:0002093	Respiratory insufficiency	8425	LTBP4	ORPHA:98896
HP:0002093	Respiratory insufficiency	59336	PRDM13	OMIM:619909
HP:0002093	Respiratory insufficiency	4927	NUP88	ORPHA:994
HP:0002093	Respiratory insufficiency	7846	TUBA1A	ORPHA:994
HP:0002093	Respiratory insufficiency	4654	MYOD1	ORPHA:994
HP:0002093	Respiratory insufficiency	4654	MYOD1	OMIM:618975
HP:0002093	Respiratory insufficiency	285489	DOK7	ORPHA:994
HP:0002093	Respiratory insufficiency	11340	EXOSC8	OMIM:616081
HP:0002093	Respiratory insufficiency	11019	LIAS	OMIM:614462
HP:0002093	Respiratory insufficiency	29957	SLC25A24	OMIM:612289
HP:0002093	Respiratory insufficiency	3032	HADHB	ORPHA:746
HP:0002093	Respiratory insufficiency	3030	HADHA	ORPHA:746
HP:0002093	Respiratory insufficiency	3030	HADHA	OMIM:609015
HP:0002093	Respiratory insufficiency	2218	FKTN	OMIM:253800
HP:0002093	Respiratory insufficiency	5352	PLOD2	ORPHA:2771
HP:0002093	Respiratory insufficiency	60681	FKBP10	ORPHA:2771
HP:0002093	Respiratory insufficiency	29926	GMPPA	ORPHA:869
HP:0002093	Respiratory insufficiency	60684	TRAPPC11	ORPHA:869
HP:0002093	Respiratory insufficiency	8086	AAAS	ORPHA:869
HP:0002093	Respiratory insufficiency	246329	STAC3	ORPHA:168572
HP:0002093	Respiratory insufficiency	84172	POLR1B	ORPHA:861
HP:0002093	Respiratory insufficiency	9533	POLR1C	ORPHA:861
HP:0002093	Respiratory insufficiency	51082	POLR1D	ORPHA:861
HP:0002093	Respiratory insufficiency	6949	TCOF1	ORPHA:861
HP:0002093	Respiratory insufficiency	3636	INPPL1	OMIM:258480
HP:0002093	Respiratory insufficiency	3636	INPPL1	ORPHA:2746
HP:0002093	Respiratory insufficiency	374354	NHLRC2	OMIM:618278
HP:0002093	Respiratory insufficiency	9373	PLAA	ORPHA:521426
HP:0002093	Respiratory insufficiency	9373	PLAA	OMIM:617527
HP:0002093	Respiratory insufficiency	8292	COLQ	ORPHA:98915
HP:0002093	Respiratory insufficiency	8292	COLQ	OMIM:603034
HP:0002093	Respiratory insufficiency	3913	LAMB2	ORPHA:98915
HP:0002093	Respiratory insufficiency	4604	MYBPC1	OMIM:614915
HP:0002093	Respiratory insufficiency	1376	CPT2	OMIM:608836
HP:0002093	Respiratory insufficiency	5264	PHYH	ORPHA:773
HP:0002093	Respiratory insufficiency	126792	B3GALT6	ORPHA:536467
HP:0002093	Respiratory insufficiency	126792	B3GALT6	OMIM:615349
HP:0002093	Respiratory insufficiency	6904	TBCD	OMIM:617193
HP:0002093	Respiratory insufficiency	10577	NPC2	OMIM:607625
HP:0002093	Respiratory insufficiency	210	ALAD	ORPHA:100924
HP:0002093	Respiratory insufficiency	4938	OAS1	OMIM:618042
HP:0002093	Respiratory insufficiency	440	ASNS	OMIM:615574
HP:0002093	Respiratory insufficiency	200205	IBA57	OMIM:615330
HP:0002093	Respiratory insufficiency	23529	CLCF1	ORPHA:1545
HP:0002093	Respiratory insufficiency	9244	CRLF1	ORPHA:1545
HP:0002093	Respiratory insufficiency	5376	PMP22	ORPHA:640
HP:0002093	Respiratory insufficiency	54936	ADPRS	OMIM:618170
HP:0002093	Respiratory insufficiency	56922	MCCC1	ORPHA:6
HP:0002093	Respiratory insufficiency	64087	MCCC2	ORPHA:6
HP:0002093	Respiratory insufficiency	1439	CSF2RB	OMIM:614370
HP:0002093	Respiratory insufficiency	80704	SLC19A3	ORPHA:263410
HP:0002093	Respiratory insufficiency	5087	PBX1	OMIM:617641
HP:0002093	Respiratory insufficiency	51763	INPP5K	OMIM:617404
HP:0002093	Respiratory insufficiency	1140	CHRNB1	OMIM:616314
HP:0002093	Respiratory insufficiency	10535	RNASEH2A	OMIM:610333
HP:0002093	Respiratory insufficiency	1371	CPOX	ORPHA:79273
HP:0002093	Respiratory insufficiency	23224	SYNE2	OMIM:612999
HP:0002093	Respiratory insufficiency	54938	SARS2	OMIM:613845
HP:0002093	Respiratory insufficiency	3145	HMBS	ORPHA:79276
HP:0002093	Respiratory insufficiency	1639	DCTN1	OMIM:168605
HP:0002093	Respiratory insufficiency	6786	STIM1	OMIM:160565
HP:0002093	Respiratory insufficiency	168667	BMPER	OMIM:608022
HP:0002093	Respiratory insufficiency	2294	FOXF1	OMIM:265380
HP:0002093	Respiratory insufficiency	5076	PAX2	ORPHA:97362
HP:0002093	Respiratory insufficiency	199857	ALG14	OMIM:619036
HP:0002093	Respiratory insufficiency	10059	DNM1L	OMIM:614388
HP:0002093	Respiratory insufficiency	55627	SMPD4	OMIM:618622
HP:0002093	Respiratory insufficiency	23417	MLYCD	OMIM:248360
HP:0002093	Respiratory insufficiency	8854	ALDH1A2	OMIM:620025
HP:0002093	Respiratory insufficiency	51119	SBDS	OMIM:260400
HP:0002093	Respiratory insufficiency	134218	DNAJC21	OMIM:260400
HP:0002093	Respiratory insufficiency	6729	SRP54	OMIM:260400
HP:0002093	Respiratory insufficiency	55790	CSGALNACT1	OMIM:618870
HP:0002093	Respiratory insufficiency	4868	NPHS1	OMIM:256300
HP:0002093	Respiratory insufficiency	1146	CHRNG	OMIM:265000
HP:0002093	Respiratory insufficiency	1146	CHRNG	ORPHA:2990
HP:0002093	Respiratory insufficiency	84987	COX14	OMIM:619053
HP:0002093	Respiratory insufficiency	55906	ZC4H2	OMIM:314580
HP:0002093	Respiratory insufficiency	7994	KAT6A	ORPHA:457193
HP:0002093	Respiratory insufficiency	7994	KAT6A	OMIM:616268
HP:0002093	Respiratory insufficiency	64131	XYLT1	OMIM:615777
HP:0002093	Respiratory insufficiency	2917	GRM7	OMIM:618922
HP:0002093	Respiratory insufficiency	9820	CUL7	OMIM:273750
HP:0002093	Respiratory insufficiency	7490	WT1	OMIM:194080
HP:0002093	Respiratory insufficiency	9361	LONP1	ORPHA:79243
HP:0002093	Respiratory insufficiency	1339	COX6A2	OMIM:619062
HP:0002093	Respiratory insufficiency	860	RUNX2	OMIM:119600
HP:0002093	Respiratory insufficiency	1760	DMPK	ORPHA:589821
HP:0002093	Respiratory insufficiency	4905	NSF	OMIM:619340
HP:0002093	Respiratory insufficiency	132158	GLYCTK	OMIM:220120
HP:0002093	Respiratory insufficiency	5167	ENPP1	OMIM:208000
HP:0002093	Respiratory insufficiency	2783	GNB2	OMIM:619503
HP:0002093	Respiratory insufficiency	2752	GLUL	OMIM:610015
HP:0002093	Respiratory insufficiency	6628	SNRPB	OMIM:117650
HP:0002093	Respiratory insufficiency	6628	SNRPB	ORPHA:1393
HP:0002093	Respiratory insufficiency	9851	KIAA0753	OMIM:619479
HP:0002093	Respiratory insufficiency	57061	HYMAI	ORPHA:96191
HP:0002093	Respiratory insufficiency	5325	PLAGL1	ORPHA:96191
HP:0002093	Respiratory insufficiency	4576	MT-TT	ORPHA:254857
HP:0002093	Respiratory insufficiency	1861	TOR1A	OMIM:618947
HP:0002093	Respiratory insufficiency	8021	NUP214	OMIM:618426
HP:0002093	Respiratory insufficiency	3675	ITGA3	OMIM:614748
HP:0002093	Respiratory insufficiency	8405	SPOP	OMIM:618828
HP:0002093	Respiratory insufficiency	5293	PIK3CD	ORPHA:221139
HP:0002093	Respiratory insufficiency	90417	KNSTRN	ORPHA:221139
HP:0002093	Respiratory insufficiency	415	ARSL	ORPHA:79345
HP:0002093	Respiratory insufficiency	145258	GSC	OMIM:602471
HP:0002093	Respiratory insufficiency	8818	DPM2	OMIM:615042
HP:0002093	Respiratory insufficiency	8567	MADD	OMIM:619004
HP:0002093	Respiratory insufficiency	8567	MADD	OMIM:619005
HP:0002093	Respiratory insufficiency	253959	RALGAPA1	OMIM:618797
HP:0002093	Respiratory insufficiency	5205	ATP8B1	ORPHA:69665
HP:0002093	Respiratory insufficiency	8647	ABCB11	ORPHA:69665
HP:0002093	Respiratory insufficiency	5244	ABCB4	ORPHA:69665
HP:0002093	Respiratory insufficiency	9971	NR1H4	ORPHA:69665
HP:0002093	Respiratory insufficiency	124583	CANT1	OMIM:251450
HP:0002093	Respiratory insufficiency	5331	PLCB3	OMIM:618961
HP:0002093	Respiratory insufficiency	84231	TRAF7	OMIM:618164
HP:0002093	Respiratory insufficiency	5339	PLEC	OMIM:226670
HP:0002093	Respiratory insufficiency	10463	SLC30A9	OMIM:617595
HP:0002093	Respiratory insufficiency	4621	MYH3	ORPHA:2990
HP:0002093	Respiratory insufficiency	171023	ASXL1	OMIM:605039
HP:0002093	Respiratory insufficiency	667	DST	OMIM:614653
HP:0002093	Respiratory insufficiency	2719	GPC3	OMIM:312870
HP:0002093	Respiratory insufficiency	2239	GPC4	OMIM:312870
HP:0002093	Respiratory insufficiency	29969	MDFIC	OMIM:620014
HP:0002093	Respiratory insufficiency	4359	MPZ	OMIM:618184
HP:0002093	Respiratory insufficiency	2673	GFPT1	OMIM:608931
HP:0002093	Respiratory insufficiency	84334	COA8	ORPHA:436271
HP:0002093	Respiratory insufficiency	4568	MT-TL2	ORPHA:663
HP:0002093	Respiratory insufficiency	4567	MT-TL1	ORPHA:663
HP:0002093	Respiratory insufficiency	22880	MORC2	ORPHA:466768
HP:0002093	Respiratory insufficiency	84197	POMK	OMIM:615249
HP:0002093	Respiratory insufficiency	1272	CNTN1	OMIM:612540
HP:0002093	Respiratory insufficiency	84876	ORAI1	OMIM:612782
HP:0002093	Respiratory insufficiency	29967	LRP12	OMIM:164310
HP:0002093	Respiratory insufficiency	80208	SPG11	OMIM:602099
HP:0002093	Respiratory insufficiency	127833	SYT2	OMIM:619461
HP:0002093	Respiratory insufficiency	57449	PLEKHG5	OMIM:611067
HP:0002093	Respiratory insufficiency	10755	GIPC1	ORPHA:98897
HP:0002093	Respiratory insufficiency	100996717	NOTCH2NLC	ORPHA:98897
HP:0002093	Respiratory insufficiency	1103	CHAT	OMIM:254210
HP:0002093	Respiratory insufficiency	9325	TRIP4	OMIM:617066
HP:0002093	Respiratory insufficiency	9325	TRIP4	ORPHA:486815
HP:0002093	Respiratory insufficiency	1674	DES	OMIM:601419
HP:0002093	Respiratory insufficiency	1674	DES	ORPHA:98909
HP:0002093	Respiratory insufficiency	51244	CCDC174	OMIM:616816
HP:0002093	Respiratory insufficiency	84665	MYPN	ORPHA:171439
HP:0002093	Respiratory insufficiency	390594	KBTBD13	ORPHA:171439
HP:0002093	Respiratory insufficiency	55681	SCYL2	ORPHA:1143
HP:0002093	Respiratory insufficiency	84570	COL25A1	ORPHA:1143
HP:0002093	Respiratory insufficiency	57222	ERGIC1	ORPHA:1143
HP:0002093	Respiratory insufficiency	2010	EMD	ORPHA:98863
HP:0002093	Respiratory insufficiency	23676	SMPX	OMIM:301075
HP:0002093	Respiratory insufficiency	9927	MFN2	OMIM:617087
HP:0002093	Respiratory insufficiency	8803	SUCLA2	OMIM:612073
HP:0002093	Respiratory insufficiency	51067	YARS2	OMIM:613561
HP:0002093	Respiratory insufficiency	8291	DYSF	ORPHA:45448
HP:0002093	Respiratory insufficiency	23534	TNPO3	OMIM:608423
HP:0002093	Respiratory insufficiency	54808	DYM	ORPHA:239
HP:0002093	Respiratory insufficiency	79188	TMEM43	ORPHA:98853
HP:0002093	Respiratory insufficiency	23345	SYNE1	ORPHA:98853
HP:0002093	Respiratory insufficiency	1832	DSP	ORPHA:158687
HP:0002093	Respiratory insufficiency	3728	JUP	ORPHA:158687
HP:0002093	Respiratory insufficiency	28981	IFT81	OMIM:617895
HP:0002093	Respiratory insufficiency	4574	MT-TS1	OMIM:220110
HP:0002093	Respiratory insufficiency	4570	MT-TN	OMIM:220110
HP:0002093	Respiratory insufficiency	6834	SURF1	OMIM:220110
HP:0002093	Respiratory insufficiency	6834	SURF1	ORPHA:70474
HP:0002093	Respiratory insufficiency	79848	CSPP1	OMIM:615636
HP:0002093	Respiratory insufficiency	81570	CLPB	ORPHA:445038
HP:0002093	Respiratory insufficiency	1303	COL12A1	ORPHA:75840
HP:0002093	Respiratory insufficiency	3909	LAMA3	ORPHA:79404
HP:0002093	Respiratory insufficiency	3918	LAMC2	ORPHA:79404
HP:0002093	Respiratory insufficiency	3914	LAMB3	ORPHA:79404
HP:0002093	Respiratory insufficiency	26580	BSCL2	ORPHA:363400
HP:0002093	Respiratory insufficiency	283989	TSEN54	OMIM:225753
HP:0002093	Respiratory insufficiency	388015	RTL1	ORPHA:254528
HP:0002093	Respiratory insufficiency	388015	RTL1	ORPHA:96334
HP:0002093	Respiratory insufficiency	8788	DLK1	ORPHA:254528
HP:0002093	Respiratory insufficiency	8788	DLK1	ORPHA:96334
HP:0002093	Respiratory insufficiency	55384	MEG3	ORPHA:254528
HP:0002093	Respiratory insufficiency	55384	MEG3	ORPHA:96334
HP:0002093	Respiratory insufficiency	6536	SLC6A9	OMIM:617301
HP:0002093	Respiratory insufficiency	131377	KLHL40	ORPHA:171430
HP:0002093	Respiratory insufficiency	131377	KLHL40	OMIM:615348
HP:0002093	Respiratory insufficiency	5160	PDHA1	OMIM:312170
HP:0002093	Respiratory insufficiency	101060691	NUTM2B-AS1	OMIM:618637
HP:0002093	Respiratory insufficiency	1841	DTYMK	OMIM:619847
HP:0002093	Respiratory insufficiency	341640	FREM2	OMIM:617666
HP:0002093	Respiratory insufficiency	3508	IGHMBP2	OMIM:604320
HP:0002093	Respiratory insufficiency	6439	SFTPB	OMIM:265120
HP:0002093	Respiratory insufficiency	6439	SFTPB	ORPHA:70587
HP:0002093	Respiratory insufficiency	55037	PTCD3	OMIM:619057
HP:0002093	Respiratory insufficiency	23511	NUP188	OMIM:618804
HP:0002093	Respiratory insufficiency	91137	SLC25A46	OMIM:616505
HP:0002093	Respiratory insufficiency	91137	SLC25A46	ORPHA:2254
HP:0002093	Respiratory insufficiency	51008	ASCC1	OMIM:616867
HP:0002093	Respiratory insufficiency	9570	GOSR2	OMIM:620166
HP:0002093	Respiratory insufficiency	21	ABCA3	OMIM:610921
HP:0002093	Respiratory insufficiency	21	ABCA3	ORPHA:70587
HP:0002093	Respiratory insufficiency	7080	NKX2-1	ORPHA:209905
HP:0002093	Respiratory insufficiency	81620	CDT1	ORPHA:2554
HP:0002093	Respiratory insufficiency	5000	ORC4	ORPHA:2554
HP:0002093	Respiratory insufficiency	23594	ORC6	ORPHA:2554
HP:0002093	Respiratory insufficiency	8318	CDC45	ORPHA:2554
HP:0002093	Respiratory insufficiency	990	CDC6	ORPHA:2554
HP:0002093	Respiratory insufficiency	4998	ORC1	ORPHA:2554
HP:0002093	Respiratory insufficiency	51053	GMNN	ORPHA:2554
HP:0002093	Respiratory insufficiency	1349	COX7B	ORPHA:2556
HP:0002093	Respiratory insufficiency	3052	HCCS	ORPHA:2556
HP:0002093	Respiratory insufficiency	4547	MTTP	ORPHA:14
HP:0002093	Respiratory insufficiency	5354	PLP1	ORPHA:280210
HP:0002093	Respiratory insufficiency	191	AHCY	ORPHA:88618
HP:0002093	Respiratory insufficiency	4633	MYL2	ORPHA:2020
HP:0002093	Respiratory insufficiency	3679	ITGA7	ORPHA:2020
HP:0002093	Respiratory insufficiency	9200	HACD1	ORPHA:2020
HP:0002093	Respiratory insufficiency	51776	MAP3K20	ORPHA:2020
HP:0002093	Respiratory insufficiency	5277	PIGA	OMIM:300868
HP:0002093	Respiratory insufficiency	4714	NDUFB8	OMIM:618252
HP:0002093	Respiratory insufficiency	4714	NDUFB8	ORPHA:70474
HP:0002093	Respiratory insufficiency	84896	ATAD1	OMIM:618011
HP:0002093	Respiratory insufficiency	4632	MYL1	OMIM:618414
HP:0002093	Respiratory insufficiency	89910	UBE3B	ORPHA:2707
HP:0002093	Respiratory insufficiency	23287	AGTPBP1	ORPHA:2254
HP:0002093	Respiratory insufficiency	90624	LYRM7	OMIM:615838
HP:0002093	Respiratory insufficiency	81031	SLC2A10	ORPHA:3342
HP:0002093	Respiratory insufficiency	10128	LRPPRC	ORPHA:70472
HP:0002093	Respiratory insufficiency	2624	GATA2	ORPHA:3226
HP:0002093	Respiratory insufficiency	9997	SCO2	ORPHA:70474
HP:0002093	Respiratory insufficiency	56052	ALG1	ORPHA:79327
HP:0002093	Respiratory insufficiency	128240	NAXE	OMIM:617186
HP:0002093	Respiratory insufficiency	10660	LBX1	OMIM:619483
HP:0002093	Respiratory insufficiency	10342	TFG	ORPHA:90117
HP:0002093	Respiratory insufficiency	2674	GFRA1	OMIM:619887
HP:0002093	Respiratory insufficiency	1605	DAG1	OMIM:616538
HP:0002093	Respiratory insufficiency	7284	TUFM	OMIM:610678
HP:0002093	Respiratory insufficiency	2065	ERBB3	OMIM:607598
HP:0002093	Respiratory insufficiency	1134	CHRNA1	ORPHA:98913
HP:0002093	Respiratory insufficiency	4038	LRP4	ORPHA:98913
HP:0002093	Respiratory insufficiency	221264	AK9	ORPHA:98913
HP:0002093	Respiratory insufficiency	199221	DZIP1L	ORPHA:731
HP:0002093	Respiratory insufficiency	5314	PKHD1	ORPHA:731
HP:0002093	Respiratory insufficiency	56975	FAM20C	ORPHA:1832
HP:0002093	Respiratory insufficiency	6310	ATXN1	ORPHA:98755
HP:0002093	Respiratory insufficiency	590	BCHE	ORPHA:132
HP:0002093	Respiratory insufficiency	64135	IFIH1	OMIM:619773
HP:0002093	Respiratory insufficiency	6651	SON	ORPHA:500150
HP:0002093	Respiratory insufficiency	2733	GLE1	OMIM:611890
HP:0002093	Respiratory insufficiency	2733	GLE1	ORPHA:803
HP:0002093	Respiratory insufficiency	10133	OPTN	OMIM:613435
HP:0002093	Respiratory insufficiency	10133	OPTN	ORPHA:803
HP:0002093	Respiratory insufficiency	3458	IFNG	ORPHA:805
HP:0002093	Respiratory insufficiency	7248	TSC1	ORPHA:805
HP:0002093	Respiratory insufficiency	7249	TSC2	ORPHA:805
HP:0002093	Respiratory insufficiency	55005	RMND1	OMIM:614922
HP:0002093	Respiratory insufficiency	7415	VCP	OMIM:613954
HP:0002093	Respiratory insufficiency	7415	VCP	ORPHA:803
HP:0002093	Respiratory insufficiency	4683	NBN	ORPHA:647
HP:0002093	Respiratory insufficiency	2581	GALC	ORPHA:206436
HP:0002093	Respiratory insufficiency	25978	CHMP2B	ORPHA:803
HP:0002093	Respiratory insufficiency	3178	HNRNPA1	ORPHA:803
HP:0002093	Respiratory insufficiency	8148	TAF15	ORPHA:803
HP:0002093	Respiratory insufficiency	5445	PON2	ORPHA:803
HP:0002093	Respiratory insufficiency	9217	VAPB	ORPHA:803
HP:0002093	Respiratory insufficiency	8878	SQSTM1	ORPHA:803
HP:0002093	Respiratory insufficiency	5630	PRPH	ORPHA:803
HP:0002093	Respiratory insufficiency	29110	TBK1	ORPHA:803
HP:0002093	Respiratory insufficiency	55830	GLT8D1	ORPHA:803
HP:0002093	Respiratory insufficiency	755	CFAP410	ORPHA:803
HP:0002093	Respiratory insufficiency	10891	PPARGC1A	ORPHA:803
HP:0002093	Respiratory insufficiency	6647	SOD1	ORPHA:803
HP:0002093	Respiratory insufficiency	9896	FIG4	ORPHA:803
HP:0002093	Respiratory insufficiency	5444	PON1	ORPHA:803
HP:0002093	Respiratory insufficiency	5446	PON3	ORPHA:803
HP:0002093	Respiratory insufficiency	4744	NEFH	ORPHA:803
HP:0002093	Respiratory insufficiency	5216	PFN1	ORPHA:803
HP:0002093	Respiratory insufficiency	9782	MATR3	ORPHA:803
HP:0002093	Respiratory insufficiency	54209	TREM2	ORPHA:803
HP:0002093	Respiratory insufficiency	283	ANG	ORPHA:803
HP:0002093	Respiratory insufficiency	23435	TARDBP	ORPHA:803
HP:0002093	Respiratory insufficiency	29978	UBQLN2	ORPHA:803
HP:0002093	Respiratory insufficiency	2521	FUS	ORPHA:803
HP:0002093	Respiratory insufficiency	2043	EPHA4	ORPHA:803
HP:0002093	Respiratory insufficiency	6311	ATXN2	ORPHA:803
HP:0002093	Respiratory insufficiency	1610	DAO	ORPHA:803
HP:0002093	Respiratory insufficiency	2066	ERBB4	ORPHA:803
HP:0002093	Respiratory insufficiency	311	ANXA11	ORPHA:803
HP:0002093	Respiratory insufficiency	23025	UNC13A	ORPHA:803
HP:0002093	Respiratory insufficiency	899	CCNF	ORPHA:803
HP:0002093	Respiratory insufficiency	400916	CHCHD10	ORPHA:803
HP:0002093	Respiratory insufficiency	28962	OSTM1	OMIM:259720
HP:0002093	Respiratory insufficiency	25981	DNAH1	ORPHA:244
HP:0002093	Respiratory insufficiency	352909	DNAAF3	ORPHA:244
HP:0002093	Respiratory insufficiency	27148	STK36	ORPHA:244
HP:0002093	Respiratory insufficiency	51314	NME8	ORPHA:244
HP:0002093	Respiratory insufficiency	92749	DRC1	ORPHA:244
HP:0002093	Respiratory insufficiency	54970	TTC12	ORPHA:244
HP:0002093	Respiratory insufficiency	152110	NEK10	ORPHA:244
HP:0002093	Respiratory insufficiency	8481	OFD1	ORPHA:244
HP:0002093	Respiratory insufficiency	2302	FOXJ1	ORPHA:244
HP:0002093	Respiratory insufficiency	221421	RSPH9	ORPHA:244
HP:0002093	Respiratory insufficiency	55036	CCDC40	ORPHA:244
HP:0002093	Respiratory insufficiency	64446	DNAI2	ORPHA:244
HP:0002093	Respiratory insufficiency	83544	DNAL1	ORPHA:244
HP:0002093	Respiratory insufficiency	89765	RSPH1	ORPHA:244
HP:0002093	Respiratory insufficiency	83538	ODAD4	ORPHA:244
HP:0002093	Respiratory insufficiency	200373	CFAP221	ORPHA:244
HP:0002093	Respiratory insufficiency	374407	DNAJB13	ORPHA:244
HP:0002093	Respiratory insufficiency	55172	DNAAF2	ORPHA:244
HP:0002093	Respiratory insufficiency	161582	DNAAF4	ORPHA:244
HP:0002093	Respiratory insufficiency	2622	GAS8	ORPHA:244
HP:0002093	Respiratory insufficiency	27019	DNAI1	ORPHA:244
HP:0002093	Respiratory insufficiency	345895	RSPH4A	ORPHA:244
HP:0002093	Respiratory insufficiency	6103	RPGR	ORPHA:244
HP:0002093	Respiratory insufficiency	388389	CCDC103	ORPHA:244
HP:0002093	Respiratory insufficiency	1767	DNAH5	ORPHA:244
HP:0002093	Respiratory insufficiency	83861	RSPH3	ORPHA:244
HP:0002093	Respiratory insufficiency	79925	SPEF2	ORPHA:244
HP:0002093	Respiratory insufficiency	10309	CCNO	ORPHA:244
HP:0002093	Respiratory insufficiency	115399	LRRC56	ORPHA:244
HP:0002093	Respiratory insufficiency	139212	DNAAF6	ORPHA:244
HP:0002093	Respiratory insufficiency	123872	DNAAF1	ORPHA:244
HP:0002093	Respiratory insufficiency	85016	CFAP300	ORPHA:244
HP:0002093	Respiratory insufficiency	339829	CCDC39	ORPHA:244
HP:0002093	Respiratory insufficiency	8701	DNAH11	ORPHA:244
HP:0002093	Respiratory insufficiency	1770	DNAH9	ORPHA:244
HP:0002093	Respiratory insufficiency	246176	GAS2L2	ORPHA:244
HP:0002093	Respiratory insufficiency	23299	BICD2	OMIM:618291
HP:0002093	Respiratory insufficiency	641	BLM	ORPHA:125
HP:0002093	Respiratory insufficiency	1892	ECHS1	OMIM:616277
HP:0002093	Respiratory insufficiency	115286	SLC25A26	OMIM:616794
HP:0002093	Respiratory insufficiency	9054	NFS1	OMIM:619386
HP:0002093	Respiratory insufficiency	27429	HTRA2	OMIM:617248
HP:0002093	Respiratory insufficiency	84705	GTPBP3	ORPHA:444013
HP:0002093	Respiratory insufficiency	4054	LTBP3	OMIM:617809
HP:0002093	Respiratory insufficiency	6329	SCN4A	ORPHA:684
HP:0002093	Respiratory insufficiency	3835	KIF22	ORPHA:93360
HP:0002093	Respiratory insufficiency	79158	GNPTAB	ORPHA:576
HP:0002093	Respiratory insufficiency	1438	CSF2RA	ORPHA:264675
HP:0002093	Respiratory insufficiency	6609	SMPD1	ORPHA:77293
HP:0002093	Respiratory insufficiency	4629	MYH11	OMIM:619351
HP:0002093	Respiratory insufficiency	5631	PRPS1	ORPHA:1187
HP:0002093	Respiratory insufficiency	84842	HPDL	OMIM:619026
HP:0002093	Respiratory insufficiency	27245	AHDC1	ORPHA:412069
HP:0002093	Respiratory insufficiency	1806	DPYD	ORPHA:1675
HP:0002093	Respiratory insufficiency	7187	TRAF3	ORPHA:1930
HP:0002093	Respiratory insufficiency	81622	UNC93B1	ORPHA:1930
HP:0002093	Respiratory insufficiency	148022	TICAM1	ORPHA:1930
HP:0002093	Respiratory insufficiency	7098	TLR3	ORPHA:1930
HP:0002093	Respiratory insufficiency	60482	SLC5A7	ORPHA:98914
HP:0002093	Respiratory insufficiency	6843	VAMP1	ORPHA:98914
HP:0002093	Respiratory insufficiency	6616	SNAP25	ORPHA:98914
HP:0002093	Respiratory insufficiency	123263	MTFMT	OMIM:614947
HP:0002093	Respiratory insufficiency	9152	SLC6A5	OMIM:614618
HP:0002093	Respiratory insufficiency	37	ACADVL	OMIM:201475
HP:0002093	Respiratory insufficiency	3899	AFF3	OMIM:619297
HP:0002093	Respiratory insufficiency	4556	MT-TE	ORPHA:254864
HP:0002093	Respiratory insufficiency	55687	TRMU	ORPHA:254864
HP:0002093	Respiratory insufficiency	3815	KIT	ORPHA:280785
HP:0002093	Respiratory insufficiency	7259	TSPYL1	OMIM:608800
HP:0002093	Respiratory insufficiency	23233	EXOC6B	ORPHA:93359
HP:0002093	Respiratory insufficiency	439	GET3	OMIM:620203
HP:0002093	Respiratory insufficiency	57211	ADGRG6	OMIM:616503
HP:0002093	Respiratory insufficiency	79770	TXNDC15	OMIM:619879
HP:0002093	Respiratory insufficiency	1644	DDC	OMIM:608643
HP:0002093	Respiratory insufficiency	1280	COL2A1	ORPHA:93296
HP:0002093	Respiratory insufficiency	3920	LAMP2	ORPHA:34587
HP:0002093	Respiratory insufficiency	10999	SLC27A4	OMIM:608649
HP:0002093	Respiratory insufficiency	91949	COG7	OMIM:608779
HP:0002093	Respiratory insufficiency	6595	SMARCA2	ORPHA:2728
HP:0002093	Respiratory insufficiency	23729	SHPK	ORPHA:440713
HP:0002093	Respiratory insufficiency	3284	HSD3B2	ORPHA:90791
HP:0002093	Respiratory insufficiency	165918	RNF168	ORPHA:420741
HP:0002093	Respiratory insufficiency	274	BIN1	ORPHA:169189
HP:0002093	Respiratory insufficiency	64419	MTMR14	ORPHA:169189
HP:0002093	Respiratory insufficiency	4618	MYF6	ORPHA:169189
HP:0002093	Respiratory insufficiency	1785	DNM2	ORPHA:169189
HP:0002093	Respiratory insufficiency	6261	RYR1	ORPHA:169189
HP:0002093	Respiratory insufficiency	501	ALDH7A1	ORPHA:3006
HP:0002093	Respiratory insufficiency	11212	PLPBP	ORPHA:3006
HP:0002093	Respiratory insufficiency	2584	GALK1	ORPHA:79237
HP:0002093	Respiratory insufficiency	5557	PRIM1	OMIM:620005
HP:0002093	Respiratory insufficiency	11274	USP18	OMIM:617397
HP:0002093	Respiratory insufficiency	56683	CFAP298	OMIM:615500
HP:0002093	Respiratory insufficiency	54919	DNAAF5	OMIM:614874
HP:0002093	Respiratory insufficiency	51364	ZMYND10	OMIM:615444
HP:0002093	Respiratory insufficiency	85478	CCDC65	OMIM:615504
HP:0002093	Respiratory insufficiency	54768	HYDIN	OMIM:608647
HP:0002093	Respiratory insufficiency	6674	SPAG1	OMIM:615505
HP:0002093	Respiratory insufficiency	23639	DNAAF11	OMIM:614935
HP:0002093	Respiratory insufficiency	93233	ODAD1	OMIM:615067
HP:0002093	Respiratory insufficiency	55130	ODAD2	OMIM:615451
HP:0006543	Cardiorespiratory arrest	3815	KIT	ORPHA:280785
HP:0006543	Cardiorespiratory arrest	7259	TSPYL1	OMIM:608800
HP:0006543	Cardiorespiratory arrest	4633	MYL2	OMIM:619424
HP:0006543	Cardiorespiratory arrest	2879	GPX4	ORPHA:93317
HP:0006543	Cardiorespiratory arrest	23233	EXOC6B	ORPHA:93359
HP:0006543	Cardiorespiratory arrest	126792	B3GALT6	ORPHA:93359
HP:0006543	Cardiorespiratory arrest	788	SLC25A20	OMIM:212138
HP:0006543	Cardiorespiratory arrest	439	GET3	OMIM:620203
HP:0006543	Cardiorespiratory arrest	57211	ADGRG6	OMIM:616503
HP:0006543	Cardiorespiratory arrest	79770	TXNDC15	OMIM:619879
HP:0006543	Cardiorespiratory arrest	1644	DDC	OMIM:608643
HP:0006543	Cardiorespiratory arrest	81031	SLC2A10	ORPHA:3342
HP:0006543	Cardiorespiratory arrest	1280	COL2A1	ORPHA:93296
HP:0006543	Cardiorespiratory arrest	3920	LAMP2	ORPHA:34587
HP:0002092	Pulmonary arterial hypertension	94	ACVRL1	OMIM:600376
HP:0002092	Pulmonary arterial hypertension	94	ACVRL1	ORPHA:774
HP:0002092	Pulmonary arterial hypertension	4702	NDUFA8	OMIM:619272
HP:0002092	Pulmonary arterial hypertension	4352	MPL	ORPHA:71493
HP:0002092	Pulmonary arterial hypertension	7066	THPO	ORPHA:71493
HP:0002092	Pulmonary arterial hypertension	3717	JAK2	ORPHA:71493
HP:0002092	Pulmonary arterial hypertension	2294	FOXF1	OMIM:265380
HP:0002092	Pulmonary arterial hypertension	2294	FOXF1	ORPHA:210122
HP:0002092	Pulmonary arterial hypertension	4558	MT-TF	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4572	MT-TQ	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4512	MT-CO1	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4513	MT-CO2	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4514	MT-CO3	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4578	MT-TW	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4540	MT-ND5	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4541	MT-ND6	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4535	MT-ND1	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4538	MT-ND4	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4567	MT-TL1	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4574	MT-TS1	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4575	MT-TS2	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	4564	MT-TH	ORPHA:550
HP:0002092	Pulmonary arterial hypertension	7428	VHL	OMIM:263400
HP:0002092	Pulmonary arterial hypertension	79717	PPCS	OMIM:618189
HP:0002092	Pulmonary arterial hypertension	776	CACNA1D	OMIM:615474
HP:0002092	Pulmonary arterial hypertension	776	CACNA1D	ORPHA:369929
HP:0002092	Pulmonary arterial hypertension	498	ATP5F1A	OMIM:616045
HP:0002092	Pulmonary arterial hypertension	775	CACNA1C	OMIM:620029
HP:0002092	Pulmonary arterial hypertension	775	CACNA1C	OMIM:601005
HP:0002092	Pulmonary arterial hypertension	81857	MED25	OMIM:616449
HP:0002092	Pulmonary arterial hypertension	81857	MED25	ORPHA:464738
HP:0002092	Pulmonary arterial hypertension	3875	KRT18	OMIM:215600
HP:0002092	Pulmonary arterial hypertension	8854	ALDH1A2	OMIM:620025
HP:0002092	Pulmonary arterial hypertension	1277	COL1A1	OMIM:259420
HP:0002092	Pulmonary arterial hypertension	1278	COL1A2	OMIM:259420
HP:0002092	Pulmonary arterial hypertension	1235	CCR6	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	1235	CCR6	ORPHA:220393
HP:0002092	Pulmonary arterial hypertension	79932	KIAA0319L	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	1490	CCN2	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	1490	CCN2	ORPHA:220393
HP:0002092	Pulmonary arterial hypertension	3663	IRF5	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	3663	IRF5	ORPHA:220393
HP:0002092	Pulmonary arterial hypertension	857	CAV1	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	857	CAV1	OMIM:606721
HP:0002092	Pulmonary arterial hypertension	857	CAV1	OMIM:615343
HP:0002092	Pulmonary arterial hypertension	857	CAV1	ORPHA:220393
HP:0002092	Pulmonary arterial hypertension	3123	HLA-DRB1	ORPHA:220402
HP:0002092	Pulmonary arterial hypertension	3123	HLA-DRB1	OMIM:181000
HP:0002092	Pulmonary arterial hypertension	3123	HLA-DRB1	ORPHA:220393
HP:0002092	Pulmonary arterial hypertension	411	ARSB	OMIM:253200
HP:0002092	Pulmonary arterial hypertension	10312	TCIRG1	ORPHA:667
HP:0002092	Pulmonary arterial hypertension	1186	CLCN7	ORPHA:667
HP:0002092	Pulmonary arterial hypertension	29887	SNX10	ORPHA:667
HP:0002092	Pulmonary arterial hypertension	8600	TNFSF11	ORPHA:667
HP:0002092	Pulmonary arterial hypertension	27125	AFF4	ORPHA:444077
HP:0002092	Pulmonary arterial hypertension	4784	NFIX	ORPHA:447980
HP:0002092	Pulmonary arterial hypertension	4784	NFIX	OMIM:602535
HP:0002092	Pulmonary arterial hypertension	55315	SLC29A3	OMIM:602782
HP:0002092	Pulmonary arterial hypertension	1349	COX7B	OMIM:300887
HP:0002092	Pulmonary arterial hypertension	23395	LARS2	OMIM:617021
HP:0002092	Pulmonary arterial hypertension	6440	SFTPC	OMIM:178500
HP:0002092	Pulmonary arterial hypertension	6440	SFTPC	OMIM:610913
HP:0002092	Pulmonary arterial hypertension	727897	MUC5B	OMIM:178500
HP:0002092	Pulmonary arterial hypertension	729238	SFTPA2	OMIM:178500
HP:0002092	Pulmonary arterial hypertension	7015	TERT	OMIM:178500
HP:0002092	Pulmonary arterial hypertension	51601	LIPT1	OMIM:616299
HP:0002092	Pulmonary arterial hypertension	440275	EIF2AK4	OMIM:234810
HP:0002092	Pulmonary arterial hypertension	3908	LAMA2	ORPHA:258
HP:0002092	Pulmonary arterial hypertension	9382	COG1	ORPHA:263508
HP:0002092	Pulmonary arterial hypertension	6439	SFTPB	OMIM:265120
HP:0002092	Pulmonary arterial hypertension	6439	SFTPB	ORPHA:217563
HP:0002092	Pulmonary arterial hypertension	1340	COX6B1	OMIM:619051
HP:0002092	Pulmonary arterial hypertension	2022	ENG	OMIM:187300
HP:0002092	Pulmonary arterial hypertension	2022	ENG	ORPHA:774
HP:0002092	Pulmonary arterial hypertension	65082	VPS33A	ORPHA:505248
HP:0002092	Pulmonary arterial hypertension	1351	COX8A	OMIM:619059
HP:0002092	Pulmonary arterial hypertension	50619	DEF6	OMIM:619573
HP:0002092	Pulmonary arterial hypertension	79572	ATP13A3	OMIM:265400
HP:0002092	Pulmonary arterial hypertension	8260	NAA10	OMIM:300855
HP:0002092	Pulmonary arterial hypertension	9469	CHST3	OMIM:143095
HP:0002092	Pulmonary arterial hypertension	9968	MED12	ORPHA:93932
HP:0002092	Pulmonary arterial hypertension	92579	G6PC3	OMIM:612541
HP:0002092	Pulmonary arterial hypertension	56244	BTNL2	OMIM:612387
HP:0002092	Pulmonary arterial hypertension	2260	FGFR1	ORPHA:2396
HP:0002092	Pulmonary arterial hypertension	3845	KRAS	ORPHA:2396
HP:0002092	Pulmonary arterial hypertension	7080	NKX2-1	ORPHA:209905
HP:0002092	Pulmonary arterial hypertension	55750	AGK	OMIM:212350
HP:0002092	Pulmonary arterial hypertension	9377	COX5A	OMIM:619064
HP:0002092	Pulmonary arterial hypertension	9496	TBX4	ORPHA:261279
HP:0002092	Pulmonary arterial hypertension	9896	FIG4	ORPHA:3472
HP:0002092	Pulmonary arterial hypertension	9896	FIG4	OMIM:216340
HP:0002092	Pulmonary arterial hypertension	55697	VAC14	ORPHA:3472
HP:0002092	Pulmonary arterial hypertension	3977	LIFR	OMIM:601559
HP:0002092	Pulmonary arterial hypertension	659	BMPR2	OMIM:178600
HP:0002092	Pulmonary arterial hypertension	659	BMPR2	OMIM:265450
HP:0002092	Pulmonary arterial hypertension	5826	ABCD4	OMIM:614857
HP:0002092	Pulmonary arterial hypertension	3425	IDUA	OMIM:607015
HP:0002092	Pulmonary arterial hypertension	4763	NF1	ORPHA:97685
HP:0002092	Pulmonary arterial hypertension	760	CA2	ORPHA:2785
HP:0002092	Pulmonary arterial hypertension	10370	CITED2	ORPHA:99105
HP:0002092	Pulmonary arterial hypertension	10370	CITED2	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	7092	TLL1	ORPHA:99106
HP:0002092	Pulmonary arterial hypertension	7092	TLL1	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	57057	TBX20	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	4624	MYH6	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	1482	NKX2-5	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	70	ACTC1	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	2626	GATA4	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	2627	GATA6	ORPHA:99103
HP:0002092	Pulmonary arterial hypertension	2627	GATA6	OMIM:614475
HP:0002092	Pulmonary arterial hypertension	7840	ALMS1	ORPHA:64
HP:0002092	Pulmonary arterial hypertension	6772	STAT1	ORPHA:391487
HP:0002092	Pulmonary arterial hypertension	10043	TOM1	ORPHA:391487
HP:0002092	Pulmonary arterial hypertension	3572	IL6ST	OMIM:619751
HP:0002092	Pulmonary arterial hypertension	2261	FGFR3	OMIM:616482
HP:0002092	Pulmonary arterial hypertension	10664	CTCF	ORPHA:363611
HP:0002092	Pulmonary arterial hypertension	10526	IPO8	OMIM:619472
HP:0002092	Pulmonary arterial hypertension	5167	ENPP1	ORPHA:51608
HP:0002092	Pulmonary arterial hypertension	368	ABCC6	ORPHA:51608
HP:0002092	Pulmonary arterial hypertension	2200	FBN1	OMIM:614185
HP:0002092	Pulmonary arterial hypertension	4607	MYBPC3	OMIM:615396
HP:0002092	Pulmonary arterial hypertension	7414	VCL	OMIM:613255
HP:0002092	Pulmonary arterial hypertension	29957	SLC25A24	OMIM:612289
HP:0002092	Pulmonary arterial hypertension	57514	ARHGAP31	OMIM:100300
HP:0002092	Pulmonary arterial hypertension	57514	ARHGAP31	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	8085	KMT2D	OMIM:620186
HP:0002092	Pulmonary arterial hypertension	8517	IKBKG	ORPHA:464
HP:0002092	Pulmonary arterial hypertension	4000	LMNA	ORPHA:740
HP:0002092	Pulmonary arterial hypertension	10269	ZMPSTE24	ORPHA:740
HP:0002092	Pulmonary arterial hypertension	23556	PIGN	ORPHA:280633
HP:0002092	Pulmonary arterial hypertension	3043	HBB	ORPHA:231222
HP:0002092	Pulmonary arterial hypertension	4716	NDUFB10	OMIM:619003
HP:0002092	Pulmonary arterial hypertension	2629	GBA1	OMIM:230800
HP:0002092	Pulmonary arterial hypertension	2629	GBA1	ORPHA:2072
HP:0002092	Pulmonary arterial hypertension	2629	GBA1	ORPHA:77261
HP:0002092	Pulmonary arterial hypertension	2629	GBA1	ORPHA:77259
HP:0002092	Pulmonary arterial hypertension	374879	ZNF699	OMIM:619488
HP:0002092	Pulmonary arterial hypertension	27086	FOXP1	ORPHA:391372
HP:0002092	Pulmonary arterial hypertension	4256	MGP	ORPHA:85202
HP:0002092	Pulmonary arterial hypertension	50485	SMARCAL1	ORPHA:1830
HP:0002092	Pulmonary arterial hypertension	50485	SMARCAL1	OMIM:242900
HP:0002092	Pulmonary arterial hypertension	8292	COLQ	ORPHA:98915
HP:0002092	Pulmonary arterial hypertension	3913	LAMB2	ORPHA:98915
HP:0002092	Pulmonary arterial hypertension	4625	MYH7	OMIM:613426
HP:0002092	Pulmonary arterial hypertension	388015	RTL1	ORPHA:96334
HP:0002092	Pulmonary arterial hypertension	8788	DLK1	ORPHA:96334
HP:0002092	Pulmonary arterial hypertension	55384	MEG3	ORPHA:96334
HP:0002092	Pulmonary arterial hypertension	10551	AGR2	OMIM:620233
HP:0002092	Pulmonary arterial hypertension	3516	RBPJ	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	4851	NOTCH1	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	4851	NOTCH1	OMIM:616028
HP:0002092	Pulmonary arterial hypertension	57572	DOCK6	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	285203	EOGT	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	54567	DLL4	ORPHA:974
HP:0002092	Pulmonary arterial hypertension	2658	GDF2	ORPHA:774
HP:0002092	Pulmonary arterial hypertension	4089	SMAD4	ORPHA:774
HP:0002092	Pulmonary arterial hypertension	6123	RPL3L	OMIM:619371
HP:0002092	Pulmonary arterial hypertension	79989	IFT56	OMIM:619534
HP:0002092	Pulmonary arterial hypertension	8815	BANF1	OMIM:614008
HP:0002092	Pulmonary arterial hypertension	5236	PGM1	OMIM:614921
HP:0002092	Pulmonary arterial hypertension	25974	MMACHC	ORPHA:79282
HP:0002092	Pulmonary arterial hypertension	5557	PRIM1	OMIM:620005
HP:0002092	Pulmonary arterial hypertension	59	ACTA2	OMIM:613834
HP:0002092	Pulmonary arterial hypertension	3593	IL12B	ORPHA:3287
HP:0002092	Pulmonary arterial hypertension	3106	HLA-B	ORPHA:3287
HP:0002092	Pulmonary arterial hypertension	6945	MLX	ORPHA:3287
HP:0002092	Pulmonary arterial hypertension	64127	NOD2	ORPHA:90340
HP:0002092	Pulmonary arterial hypertension	55901	THSD1	OMIM:620244
HP:0002092	Pulmonary arterial hypertension	3339	HSPG2	ORPHA:800
HP:0002092	Pulmonary arterial hypertension	2542	SLC37A4	OMIM:232240
HP:0002092	Pulmonary arterial hypertension	27247	NFU1	OMIM:605711
HP:0002092	Pulmonary arterial hypertension	8295	TRRAP	OMIM:618454
HP:0002092	Pulmonary arterial hypertension	93233	ODAD1	OMIM:615067
HP:0002092	Pulmonary arterial hypertension	4093	SMAD9	OMIM:615342
HP:0002092	Pulmonary arterial hypertension	51025	PAM16	OMIM:613320
HP:0002092	Pulmonary arterial hypertension	2316	FLNA	OMIM:309350
HP:0002092	Pulmonary arterial hypertension	3777	KCNK3	OMIM:615344
HP:0002092	Pulmonary arterial hypertension	23590	PDSS1	OMIM:614651
HP:0002092	Pulmonary arterial hypertension	7319	UBE2A	ORPHA:163956
HP:0002092	Pulmonary arterial hypertension	54938	SARS2	OMIM:613845
HP:0002092	Pulmonary arterial hypertension	389827	MYMK	OMIM:254940
HP:0002092	Pulmonary arterial hypertension	950	SCARB2	ORPHA:77259
HP:0006549	Unilateral primary pulmonary dysgenesis	9993	DGCR2	OMIM:192430
HP:0006549	Unilateral primary pulmonary dysgenesis	8220	ESS2	OMIM:192430
HP:0006549	Unilateral primary pulmonary dysgenesis	8214	DGCR6	OMIM:192430
HP:0006549	Unilateral primary pulmonary dysgenesis	54487	DGCR8	OMIM:192430
HP:0006549	Unilateral primary pulmonary dysgenesis	6899	TBX1	OMIM:192430
HP:0032401	Aspartic aciduria	6505	SLC1A1	OMIM:222730
HP:0005944	Bilateral lung agenesis	54361	WNT4	OMIM:611812
HP:0005944	Bilateral lung agenesis	64220	STRA6	OMIM:601186
HP:0005944	Bilateral lung agenesis	340419	RSPO2	OMIM:618021
HP:0005944	Bilateral lung agenesis	26123	TCTN3	ORPHA:2753
HP:0032407	Bilateral perisylvian polymicrogyria	9289	ADGRG1	ORPHA:98889
HP:0032407	Bilateral perisylvian polymicrogyria	5297	PI4KA	ORPHA:98889
HP:0032407	Bilateral perisylvian polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0032407	Bilateral perisylvian polymicrogyria	27286	SRPX2	OMIM:300643
HP:0032408	Breast mass	6711	SPTBN1	OMIM:619475
HP:0032409	Subcortical band heterotopia	7283	TUBG1	OMIM:615412
HP:0032409	Subcortical band heterotopia	10844	TUBGCP2	OMIM:618737
HP:0032409	Subcortical band heterotopia	3796	KIF2A	OMIM:615411
HP:0032409	Subcortical band heterotopia	3912	LAMB1	OMIM:615191
HP:0032409	Subcortical band heterotopia	79633	FAT4	OMIM:615546
HP:0032409	Subcortical band heterotopia	8642	DCHS1	OMIM:601390
HP:0032409	Subcortical band heterotopia	5048	PAFAH1B1	OMIM:607432
HP:0032409	Subcortical band heterotopia	2009	EML1	OMIM:600348
HP:0032409	Subcortical band heterotopia	203068	TUBB	OMIM:615771
HP:0032409	Subcortical band heterotopia	387119	CEP85L	OMIM:618873
HP:0006559	Hepatic calcification	3930	LBR	OMIM:215140
HP:0006559	Hepatic calcification	1376	CPT2	OMIM:608836
HP:0006559	Hepatic calcification	1376	CPT2	ORPHA:228308
HP:0006559	Hepatic calcification	5167	ENPP1	ORPHA:51608
HP:0006559	Hepatic calcification	368	ABCC6	ORPHA:51608
HP:0006552	Fibrocystic lung disease	6720	SREBF1	OMIM:158310
HP:0005242	Extrahepatic biliary duct atresia	9361	LONP1	ORPHA:1458
HP:0006554	Acute hepatic failure	11232	POLG2	OMIM:618528
HP:0006554	Acute hepatic failure	85476	GFM1	OMIM:609060
HP:0006554	Acute hepatic failure	10068	IL18BP	OMIM:618549
HP:0006554	Acute hepatic failure	3875	KRT18	OMIM:215600
HP:0006554	Acute hepatic failure	331	XIAP	OMIM:308240
HP:0006554	Acute hepatic failure	4068	SH2D1A	OMIM:308240
HP:0006554	Acute hepatic failure	3106	HLA-B	ORPHA:36426
HP:0006554	Acute hepatic failure	10320	IKZF1	ORPHA:36426
HP:0006554	Acute hepatic failure	811	CALR	ORPHA:131
HP:0006554	Acute hepatic failure	3717	JAK2	ORPHA:131
HP:0006554	Acute hepatic failure	2153	F5	ORPHA:131
HP:0006554	Acute hepatic failure	51594	NBAS	OMIM:616483
HP:0006554	Acute hepatic failure	55687	TRMU	OMIM:613070
HP:0006554	Acute hepatic failure	60561	RINT1	OMIM:618641
HP:0006554	Acute hepatic failure	2859	GPR35	ORPHA:171
HP:0006554	Acute hepatic failure	10507	SEMA4D	ORPHA:171
HP:0006554	Acute hepatic failure	4485	MST1	ORPHA:171
HP:0006554	Acute hepatic failure	6925	TCF4	ORPHA:171
HP:0006554	Acute hepatic failure	1537	CYC1	OMIM:615453
HP:0006554	Acute hepatic failure	64840	PORCN	ORPHA:2092
HP:0006554	Acute hepatic failure	3988	LIPA	OMIM:278000
HP:0006554	Acute hepatic failure	4358	MPV17	OMIM:256810
HP:0006554	Acute hepatic failure	51520	LARS1	OMIM:615438
HP:0006554	Acute hepatic failure	540	ATP7B	ORPHA:905
HP:0006554	Acute hepatic failure	540	ATP7B	OMIM:277900
HP:0006554	Acute hepatic failure	2184	FAH	OMIM:276700
HP:0006554	Acute hepatic failure	2184	FAH	ORPHA:882
HP:0006554	Acute hepatic failure	5428	POLG	OMIM:203700
HP:0006554	Acute hepatic failure	83737	ITCH	ORPHA:228426
HP:0006554	Acute hepatic failure	57410	SCYL1	ORPHA:466794
HP:0006554	Acute hepatic failure	779	CACNA1S	ORPHA:423
HP:0006554	Acute hepatic failure	6261	RYR1	ORPHA:423
HP:0006554	Acute hepatic failure	9451	EIF2AK3	ORPHA:1667
HP:0006554	Acute hepatic failure	4210	MEFV	ORPHA:342
HP:0006554	Acute hepatic failure	57169	ZNFX1	OMIM:619644
HP:0006554	Acute hepatic failure	3033	HADH	ORPHA:71212
HP:0006554	Acute hepatic failure	28976	ACAD9	ORPHA:99901
HP:0006555	Diffuse hepatic steatosis	51	ACOX1	OMIM:264470
HP:0006555	Diffuse hepatic steatosis	84334	COA8	ORPHA:436271
HP:0006555	Diffuse hepatic steatosis	3032	HADHB	ORPHA:746
HP:0006555	Diffuse hepatic steatosis	3030	HADHA	ORPHA:746
HP:0006557	Polycystic liver disease	51726	DNAJB11	ORPHA:730
HP:0006557	Polycystic liver disease	23193	GANAB	ORPHA:730
HP:0006557	Polycystic liver disease	5310	PKD1	ORPHA:730
HP:0006557	Polycystic liver disease	5311	PKD2	ORPHA:730
HP:0006557	Polycystic liver disease	29880	ALG5	ORPHA:730
HP:0006557	Polycystic liver disease	9742	IFT140	ORPHA:730
HP:0006557	Polycystic liver disease	79796	ALG9	ORPHA:730
HP:0006557	Polycystic liver disease	80114	BICC1	ORPHA:730
HP:0006557	Polycystic liver disease	11231	SEC63	ORPHA:2924
HP:0006557	Polycystic liver disease	5589	PRKCSH	ORPHA:2924
HP:0006557	Polycystic liver disease	5589	PRKCSH	OMIM:174050
HP:0006557	Polycystic liver disease	4041	LRP5	ORPHA:2924
HP:0006558	Decreased mitochondrial complex III activity in liver tissue	87178	PNPT1	OMIM:614932
HP:0006558	Decreased mitochondrial complex III activity in liver tissue	64116	SLC39A8	ORPHA:468699
HP:0006558	Decreased mitochondrial complex III activity in liver tissue	617	BCS1L	OMIM:124000
HP:0032411	Posterior predominant subcortical band heterotopia	387119	CEP85L	OMIM:618873
HP:0032417	Periglomerular fibrosis	254428	SLC41A1	OMIM:619468
HP:0006560	Biliary hyperplasia	199221	DZIP1L	ORPHA:731
HP:0006560	Biliary hyperplasia	5314	PKHD1	ORPHA:731
HP:0006560	Biliary hyperplasia	54914	FOCAD	OMIM:619991
HP:0006561	Lipid accumulation in hepatocytes	10159	ATP6AP2	OMIM:301045
HP:0006561	Lipid accumulation in hepatocytes	3376	IARS1	OMIM:617093
HP:0006561	Lipid accumulation in hepatocytes	3376	IARS1	ORPHA:541423
HP:0006561	Lipid accumulation in hepatocytes	286053	NSMCE2	OMIM:617253
HP:0006561	Lipid accumulation in hepatocytes	286053	NSMCE2	ORPHA:436182
HP:0006561	Lipid accumulation in hepatocytes	30061	SLC40A1	ORPHA:139491
HP:0006561	Lipid accumulation in hepatocytes	30061	SLC40A1	OMIM:606069
HP:0006561	Lipid accumulation in hepatocytes	229	ALDOB	OMIM:229600
HP:0006561	Lipid accumulation in hepatocytes	3033	HADH	OMIM:231530
HP:0006561	Lipid accumulation in hepatocytes	3033	HADH	ORPHA:71212
HP:0006561	Lipid accumulation in hepatocytes	11020	IFT27	OMIM:615996
HP:0006561	Lipid accumulation in hepatocytes	132	ADK	OMIM:614300
HP:0006561	Lipid accumulation in hepatocytes	60684	TRAPPC11	OMIM:615356
HP:0006561	Lipid accumulation in hepatocytes	60684	TRAPPC11	ORPHA:369840
HP:0006561	Lipid accumulation in hepatocytes	1355	COX15	OMIM:615119
HP:0006561	Lipid accumulation in hepatocytes	63924	CIDEC	OMIM:615238
HP:0006561	Lipid accumulation in hepatocytes	63924	CIDEC	ORPHA:435651
HP:0006561	Lipid accumulation in hepatocytes	857	CAV1	OMIM:612526
HP:0006561	Lipid accumulation in hepatocytes	857	CAV1	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	81570	CLPB	ORPHA:445038
HP:0006561	Lipid accumulation in hepatocytes	81570	CLPB	OMIM:616271
HP:0006561	Lipid accumulation in hepatocytes	51099	ABHD5	OMIM:275630
HP:0006561	Lipid accumulation in hepatocytes	51099	ABHD5	ORPHA:98907
HP:0006561	Lipid accumulation in hepatocytes	6718	AKR1D1	ORPHA:79303
HP:0006561	Lipid accumulation in hepatocytes	80222	TARS2	OMIM:615918
HP:0006561	Lipid accumulation in hepatocytes	26580	BSCL2	ORPHA:363400
HP:0006561	Lipid accumulation in hepatocytes	26580	BSCL2	OMIM:269700
HP:0006561	Lipid accumulation in hepatocytes	26580	BSCL2	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	6341	SCO1	OMIM:619048
HP:0006561	Lipid accumulation in hepatocytes	4141	MARS1	OMIM:615486
HP:0006561	Lipid accumulation in hepatocytes	8882	ZPR1	OMIM:619321
HP:0006561	Lipid accumulation in hepatocytes	348	APOE	ORPHA:412
HP:0006561	Lipid accumulation in hepatocytes	10165	SLC25A13	OMIM:603471
HP:0006561	Lipid accumulation in hepatocytes	10165	SLC25A13	ORPHA:247598
HP:0006561	Lipid accumulation in hepatocytes	10165	SLC25A13	ORPHA:247585
HP:0006561	Lipid accumulation in hepatocytes	2542	SLC37A4	ORPHA:79259
HP:0006561	Lipid accumulation in hepatocytes	2542	SLC37A4	OMIM:619525
HP:0006561	Lipid accumulation in hepatocytes	3949	LDLR	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	255738	PCSK9	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	26119	LDLRAP1	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	338	APOB	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	64240	ABCG5	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	64241	ABCG8	ORPHA:391665
HP:0006561	Lipid accumulation in hepatocytes	60561	RINT1	OMIM:618641
HP:0006561	Lipid accumulation in hepatocytes	4358	MPV17	OMIM:618400
HP:0006561	Lipid accumulation in hepatocytes	4358	MPV17	OMIM:256810
HP:0006561	Lipid accumulation in hepatocytes	537	ATP6AP1	OMIM:300972
HP:0006561	Lipid accumulation in hepatocytes	34	ACADM	OMIM:201450
HP:0006561	Lipid accumulation in hepatocytes	34	ACADM	ORPHA:42
HP:0006561	Lipid accumulation in hepatocytes	5105	PCK1	OMIM:261680
HP:0006561	Lipid accumulation in hepatocytes	50619	DEF6	OMIM:619573
HP:0006561	Lipid accumulation in hepatocytes	3988	LIPA	OMIM:278000
HP:0006561	Lipid accumulation in hepatocytes	26007	TKFC	OMIM:618805
HP:0006561	Lipid accumulation in hepatocytes	5468	PPARG	ORPHA:79083
HP:0006561	Lipid accumulation in hepatocytes	5468	PPARG	OMIM:604367
HP:0006561	Lipid accumulation in hepatocytes	5468	PPARG	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	4000	LMNA	ORPHA:79084
HP:0006561	Lipid accumulation in hepatocytes	4000	LMNA	OMIM:151660
HP:0006561	Lipid accumulation in hepatocytes	4000	LMNA	ORPHA:79474
HP:0006561	Lipid accumulation in hepatocytes	4000	LMNA	ORPHA:280365
HP:0006561	Lipid accumulation in hepatocytes	4000	LMNA	ORPHA:2348
HP:0006561	Lipid accumulation in hepatocytes	208	AKT2	ORPHA:79085
HP:0006561	Lipid accumulation in hepatocytes	5346	PLIN1	OMIM:613877
HP:0006561	Lipid accumulation in hepatocytes	5346	PLIN1	ORPHA:280356
HP:0006561	Lipid accumulation in hepatocytes	84823	LMNB2	ORPHA:79087
HP:0006561	Lipid accumulation in hepatocytes	84823	LMNB2	OMIM:608709
HP:0006561	Lipid accumulation in hepatocytes	7840	ALMS1	OMIM:203800
HP:0006561	Lipid accumulation in hepatocytes	7840	ALMS1	ORPHA:64
HP:0006561	Lipid accumulation in hepatocytes	1581	CYP7A1	ORPHA:209902
HP:0006561	Lipid accumulation in hepatocytes	1716	DGUOK	OMIM:251880
HP:0006561	Lipid accumulation in hepatocytes	10555	AGPAT2	OMIM:608594
HP:0006561	Lipid accumulation in hepatocytes	10555	AGPAT2	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	1717	DHCR7	OMIM:270400
HP:0006561	Lipid accumulation in hepatocytes	4547	MTTP	ORPHA:14
HP:0006561	Lipid accumulation in hepatocytes	6899	TBX1	OMIM:188400
HP:0006561	Lipid accumulation in hepatocytes	5424	POLD1	OMIM:615381
HP:0006561	Lipid accumulation in hepatocytes	8802	SUCLG1	ORPHA:17
HP:0006561	Lipid accumulation in hepatocytes	84984	CEP19	OMIM:615703
HP:0006561	Lipid accumulation in hepatocytes	2783	GNB2	OMIM:619503
HP:0006561	Lipid accumulation in hepatocytes	28976	ACAD9	ORPHA:99901
HP:0006561	Lipid accumulation in hepatocytes	5373	PMM2	OMIM:212065
HP:0006561	Lipid accumulation in hepatocytes	1588	CYP19A1	ORPHA:91
HP:0006561	Lipid accumulation in hepatocytes	37	ACADVL	OMIM:201475
HP:0006561	Lipid accumulation in hepatocytes	54914	FOCAD	OMIM:619991
HP:0006561	Lipid accumulation in hepatocytes	11222	MRPL3	OMIM:614582
HP:0006561	Lipid accumulation in hepatocytes	6711	SPTBN1	OMIM:619475
HP:0006561	Lipid accumulation in hepatocytes	3991	LIPE	ORPHA:435660
HP:0006561	Lipid accumulation in hepatocytes	3991	LIPE	OMIM:615980
HP:0006561	Lipid accumulation in hepatocytes	5566	PRKACA	ORPHA:189439
HP:0006561	Lipid accumulation in hepatocytes	8622	PDE8B	ORPHA:189439
HP:0006561	Lipid accumulation in hepatocytes	5573	PRKAR1A	ORPHA:189439
HP:0006561	Lipid accumulation in hepatocytes	50940	PDE11A	ORPHA:189439
HP:0006561	Lipid accumulation in hepatocytes	51520	LARS1	OMIM:615438
HP:0006561	Lipid accumulation in hepatocytes	788	SLC25A20	OMIM:212138
HP:0006561	Lipid accumulation in hepatocytes	540	ATP7B	ORPHA:905
HP:0006561	Lipid accumulation in hepatocytes	540	ATP7B	OMIM:277900
HP:0006561	Lipid accumulation in hepatocytes	5590	PRKCZ	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	2563	GABRD	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	23013	SPEN	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	8510	MMP23B	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	7798	LUZP1	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	6497	SKI	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	10630	PDPN	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	3339	HSPG2	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	10277	UBE4B	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	8514	KCNAB2	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	473	RERE	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	63976	PRDM16	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	54897	CASZ1	ORPHA:1606
HP:0006561	Lipid accumulation in hepatocytes	10056	FARSB	OMIM:613658
HP:0006561	Lipid accumulation in hepatocytes	6928	HNF1B	ORPHA:93111
HP:0006561	Lipid accumulation in hepatocytes	10128	LRPPRC	ORPHA:70472
HP:0006561	Lipid accumulation in hepatocytes	2203	FBP1	ORPHA:348
HP:0006561	Lipid accumulation in hepatocytes	100147744	RNU7-1	OMIM:619487
HP:0006561	Lipid accumulation in hepatocytes	5106	PCK2	OMIM:261650
HP:0006561	Lipid accumulation in hepatocytes	79798	ARMC5	ORPHA:189427
HP:0006561	Lipid accumulation in hepatocytes	2778	GNAS	ORPHA:189427
HP:0006561	Lipid accumulation in hepatocytes	641	BLM	OMIM:210900
HP:0006561	Lipid accumulation in hepatocytes	64135	IFIH1	OMIM:615846
HP:0006561	Lipid accumulation in hepatocytes	7518	XRCC4	ORPHA:436182
HP:0006561	Lipid accumulation in hepatocytes	51128	SAR1B	ORPHA:71
HP:0006561	Lipid accumulation in hepatocytes	11128	POLR3A	ORPHA:3455
HP:0006561	Lipid accumulation in hepatocytes	617	BCS1L	OMIM:124000
HP:0006561	Lipid accumulation in hepatocytes	617	BCS1L	ORPHA:53693
HP:0006561	Lipid accumulation in hepatocytes	3178	HNRNPA1	ORPHA:52430
HP:0006561	Lipid accumulation in hepatocytes	7415	VCP	ORPHA:52430
HP:0006561	Lipid accumulation in hepatocytes	3181	HNRNPA2B1	ORPHA:52430
HP:0006561	Lipid accumulation in hepatocytes	57104	PNPLA2	OMIM:610717
HP:0006561	Lipid accumulation in hepatocytes	57104	PNPLA2	ORPHA:98908
HP:0006561	Lipid accumulation in hepatocytes	1650	DDOST	ORPHA:300536
HP:0006561	Lipid accumulation in hepatocytes	51651	PTRH2	OMIM:616263
HP:0006561	Lipid accumulation in hepatocytes	2819	GPD1	OMIM:614480
HP:0006561	Lipid accumulation in hepatocytes	51081	MRPS7	OMIM:617872
HP:0006561	Lipid accumulation in hepatocytes	2193	FARSA	OMIM:619013
HP:0006561	Lipid accumulation in hepatocytes	8565	YARS1	OMIM:619418
HP:0006561	Lipid accumulation in hepatocytes	1374	CPT1A	OMIM:255120
HP:0006561	Lipid accumulation in hepatocytes	5236	PGM1	OMIM:614921
HP:0006561	Lipid accumulation in hepatocytes	55005	RMND1	OMIM:614922
HP:0006561	Lipid accumulation in hepatocytes	3295	HSD17B4	OMIM:261515
HP:0006561	Lipid accumulation in hepatocytes	9757	KMT2B	OMIM:619934
HP:0006561	Lipid accumulation in hepatocytes	147007	TMEM199	OMIM:616829
HP:0006561	Lipid accumulation in hepatocytes	875	CBS	OMIM:236200
HP:0006561	Lipid accumulation in hepatocytes	1376	CPT2	ORPHA:228305
HP:0006561	Lipid accumulation in hepatocytes	1376	CPT2	ORPHA:228308
HP:0006561	Lipid accumulation in hepatocytes	284119	CAVIN1	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	284119	CAVIN1	OMIM:613327
HP:0006561	Lipid accumulation in hepatocytes	2353	FOS	ORPHA:528
HP:0006561	Lipid accumulation in hepatocytes	8813	DPM1	ORPHA:79322
HP:0006561	Lipid accumulation in hepatocytes	9054	NFS1	OMIM:619386
HP:0006561	Lipid accumulation in hepatocytes	5256	PHKA2	ORPHA:264580
HP:0006561	Lipid accumulation in hepatocytes	5261	PHKG2	ORPHA:264580
HP:0006561	Lipid accumulation in hepatocytes	35	ACADS	ORPHA:26792
HP:0006561	Lipid accumulation in hepatocytes	2108	ETFA	OMIM:231680
HP:0006561	Lipid accumulation in hepatocytes	2109	ETFB	OMIM:231680
HP:0006561	Lipid accumulation in hepatocytes	2110	ETFDH	OMIM:231680
HP:0006561	Lipid accumulation in hepatocytes	5428	POLG	ORPHA:298
HP:0006561	Lipid accumulation in hepatocytes	1890	TYMP	ORPHA:298
HP:0006561	Lipid accumulation in hepatocytes	3980	LIG3	ORPHA:298
HP:0006561	Lipid accumulation in hepatocytes	50484	RRM2B	ORPHA:298
HP:0006561	Lipid accumulation in hepatocytes	55687	TRMU	OMIM:613070
HP:0006561	Lipid accumulation in hepatocytes	51103	NDUFAF1	OMIM:618234
HP:0006561	Lipid accumulation in hepatocytes	10651	MTX2	OMIM:619127
HP:0006561	Lipid accumulation in hepatocytes	57128	LYRM4	OMIM:615595
HP:0006561	Lipid accumulation in hepatocytes	8260	NAA10	OMIM:300855
HP:0006561	Lipid accumulation in hepatocytes	125988	MICOS13	OMIM:618329
HP:0006561	Lipid accumulation in hepatocytes	65082	VPS33A	OMIM:617303
HP:0006561	Lipid accumulation in hepatocytes	1794	DOCK2	OMIM:616433
HP:0006561	Lipid accumulation in hepatocytes	124454	EARS2	OMIM:614924
HP:0006561	Lipid accumulation in hepatocytes	27183	VPS4A	OMIM:619273
HP:0006561	Lipid accumulation in hepatocytes	55898	UNC45A	OMIM:619377
HP:0006561	Lipid accumulation in hepatocytes	374354	NHLRC2	OMIM:618278
HP:0006561	Lipid accumulation in hepatocytes	5277	PIGA	OMIM:300868
HP:0006561	Lipid accumulation in hepatocytes	65080	MRPL44	OMIM:615395
HP:0006561	Lipid accumulation in hepatocytes	79587	CARS2	OMIM:616672
HP:0006561	Lipid accumulation in hepatocytes	7019	TFAM	OMIM:617156
HP:0006561	Lipid accumulation in hepatocytes	11232	POLG2	OMIM:618528
HP:0006561	Lipid accumulation in hepatocytes	131118	DNAJC19	OMIM:610198
HP:0006561	Lipid accumulation in hepatocytes	131118	DNAJC19	ORPHA:66634
HP:0006561	Lipid accumulation in hepatocytes	55768	NGLY1	ORPHA:404454
HP:0006561	Lipid accumulation in hepatocytes	6584	SLC22A5	OMIM:212140
HP:0006561	Lipid accumulation in hepatocytes	51	ACOX1	OMIM:264470
HP:0006561	Lipid accumulation in hepatocytes	84334	COA8	ORPHA:436271
HP:0006561	Lipid accumulation in hepatocytes	3032	HADHB	ORPHA:746
HP:0006561	Lipid accumulation in hepatocytes	3030	HADHA	ORPHA:746
HP:0006561	Lipid accumulation in hepatocytes	3155	HMGCL	ORPHA:20
HP:0006561	Lipid accumulation in hepatocytes	4574	MT-TS1	OMIM:220110
HP:0006561	Lipid accumulation in hepatocytes	4570	MT-TN	OMIM:220110
HP:0006561	Lipid accumulation in hepatocytes	6834	SURF1	OMIM:220110
HP:0006561	Lipid accumulation in hepatocytes	56922	MCCC1	OMIM:210200
HP:0006562	Viral hepatitis	695	BTK	OMIM:300755
HP:0006562	Viral hepatitis	695	BTK	OMIM:307200
HP:0006562	Viral hepatitis	4261	CIITA	OMIM:209920
HP:0006562	Viral hepatitis	5994	RFXAP	OMIM:209920
HP:0006562	Viral hepatitis	5993	RFX5	OMIM:209920
HP:0006562	Viral hepatitis	8625	RFXANK	OMIM:209920
HP:0006562	Viral hepatitis	3514	IGKC	ORPHA:183675
HP:0006562	Viral hepatitis	3501	IGHG2	ORPHA:183675
HP:0006562	Viral hepatitis	7157	TP53	OMIM:114550
HP:0006562	Viral hepatitis	4233	MET	OMIM:114550
HP:0006562	Viral hepatitis	8312	AXIN1	OMIM:114550
HP:0006562	Viral hepatitis	5290	PIK3CA	OMIM:114550
HP:0006562	Viral hepatitis	841	CASP8	OMIM:114550
HP:0006562	Viral hepatitis	5157	PDGFRL	OMIM:114550
HP:0006562	Viral hepatitis	3482	IGF2R	OMIM:114550
HP:0006562	Viral hepatitis	324	APC	OMIM:114550
HP:0006562	Viral hepatitis	1499	CTNNB1	OMIM:114550
HP:0006563	Malformation of the hepatic ductal plate	84936	ZFYVE19	OMIM:619849
HP:0006563	Malformation of the hepatic ductal plate	51473	DCDC2	ORPHA:84081
HP:0006563	Malformation of the hepatic ductal plate	51473	DCDC2	OMIM:616217
HP:0006563	Malformation of the hepatic ductal plate	91147	TMEM67	ORPHA:84081
HP:0006563	Malformation of the hepatic ductal plate	91147	TMEM67	OMIM:607361
HP:0006563	Malformation of the hepatic ductal plate	284086	NEK8	OMIM:615415
HP:0006563	Malformation of the hepatic ductal plate	54903	MKS1	OMIM:249000
HP:0006563	Malformation of the hepatic ductal plate	27031	NPHP3	OMIM:208540
HP:0006563	Malformation of the hepatic ductal plate	55764	IFT122	OMIM:218330
HP:0006563	Malformation of the hepatic ductal plate	80776	B9D2	OMIM:614175
HP:0006564	Fluctuating hepatomegaly	4598	MVK	OMIM:610377
HP:0006565	Increased hepatocellular lipid droplets	10128	LRPPRC	OMIM:220111
HP:0006565	Increased hepatocellular lipid droplets	51128	SAR1B	ORPHA:71
HP:0006565	Increased hepatocellular lipid droplets	4574	MT-TS1	OMIM:220110
HP:0006565	Increased hepatocellular lipid droplets	4570	MT-TN	OMIM:220110
HP:0006565	Increased hepatocellular lipid droplets	6834	SURF1	OMIM:220110
HP:0006566	Neonatal cholestatic liver disease	80270	HSD3B7	ORPHA:79301
HP:0002910	Elevated hepatic transaminase	875	CBS	ORPHA:394
HP:0002910	Elevated hepatic transaminase	26235	FBXL4	OMIM:615471
HP:0002910	Elevated hepatic transaminase	229	ALDOB	OMIM:229600
HP:0002910	Elevated hepatic transaminase	55532	SLC30A10	ORPHA:309854
HP:0002910	Elevated hepatic transaminase	55532	SLC30A10	OMIM:613280
HP:0002910	Elevated hepatic transaminase	1161	ERCC8	ORPHA:90324
HP:0002910	Elevated hepatic transaminase	1161	ERCC8	ORPHA:90321
HP:0002910	Elevated hepatic transaminase	2074	ERCC6	ORPHA:90324
HP:0002910	Elevated hepatic transaminase	2074	ERCC6	ORPHA:90321
HP:0002910	Elevated hepatic transaminase	60684	TRAPPC11	OMIM:615356
HP:0002910	Elevated hepatic transaminase	60684	TRAPPC11	ORPHA:369840
HP:0002910	Elevated hepatic transaminase	7355	SLC35A2	ORPHA:356961
HP:0002910	Elevated hepatic transaminase	57539	WDR35	OMIM:613610
HP:0002910	Elevated hepatic transaminase	80270	HSD3B7	ORPHA:79301
HP:0002910	Elevated hepatic transaminase	80270	HSD3B7	OMIM:607765
HP:0002910	Elevated hepatic transaminase	2072	ERCC4	ORPHA:90321
HP:0002910	Elevated hepatic transaminase	2072	ERCC4	OMIM:610965
HP:0002910	Elevated hepatic transaminase	6718	AKR1D1	ORPHA:79303
HP:0002910	Elevated hepatic transaminase	6718	AKR1D1	OMIM:235555
HP:0002910	Elevated hepatic transaminase	79848	CSPP1	ORPHA:397715
HP:0002910	Elevated hepatic transaminase	9786	KIAA0586	ORPHA:397715
HP:0002910	Elevated hepatic transaminase	6729	SRP54	OMIM:618752
HP:0002910	Elevated hepatic transaminase	6729	SRP54	ORPHA:811
HP:0002910	Elevated hepatic transaminase	6729	SRP54	OMIM:260400
HP:0002910	Elevated hepatic transaminase	162	AP1B1	OMIM:242150
HP:0002910	Elevated hepatic transaminase	79947	DHDDS	OMIM:613861
HP:0002910	Elevated hepatic transaminase	9200	HACD1	OMIM:619967
HP:0002910	Elevated hepatic transaminase	55768	NGLY1	ORPHA:404454
HP:0002910	Elevated hepatic transaminase	55768	NGLY1	OMIM:615273
HP:0002910	Elevated hepatic transaminase	134218	DNAJC21	ORPHA:811
HP:0002910	Elevated hepatic transaminase	134218	DNAJC21	OMIM:260400
HP:0002910	Elevated hepatic transaminase	79631	EFL1	ORPHA:811
HP:0002910	Elevated hepatic transaminase	51119	SBDS	ORPHA:811
HP:0002910	Elevated hepatic transaminase	51119	SBDS	OMIM:260400
HP:0002910	Elevated hepatic transaminase	54658	UGT1A1	OMIM:143500
HP:0002910	Elevated hepatic transaminase	54658	UGT1A1	OMIM:606785
HP:0002910	Elevated hepatic transaminase	54658	UGT1A1	OMIM:218800
HP:0002910	Elevated hepatic transaminase	5428	POLG	ORPHA:298
HP:0002910	Elevated hepatic transaminase	5428	POLG	OMIM:203700
HP:0002910	Elevated hepatic transaminase	5428	POLG	ORPHA:254892
HP:0002910	Elevated hepatic transaminase	1890	TYMP	ORPHA:298
HP:0002910	Elevated hepatic transaminase	3980	LIG3	ORPHA:298
HP:0002910	Elevated hepatic transaminase	50484	RRM2B	ORPHA:298
HP:0002910	Elevated hepatic transaminase	50484	RRM2B	ORPHA:254892
HP:0002910	Elevated hepatic transaminase	25839	COG4	ORPHA:263501
HP:0002910	Elevated hepatic transaminase	25839	COG4	OMIM:613489
HP:0002910	Elevated hepatic transaminase	1738	DLD	ORPHA:2394
HP:0002910	Elevated hepatic transaminase	1738	DLD	OMIM:246900
HP:0002910	Elevated hepatic transaminase	55687	TRMU	OMIM:613070
HP:0002910	Elevated hepatic transaminase	60561	RINT1	OMIM:618641
HP:0002910	Elevated hepatic transaminase	2859	GPR35	ORPHA:171
HP:0002910	Elevated hepatic transaminase	10507	SEMA4D	ORPHA:171
HP:0002910	Elevated hepatic transaminase	4485	MST1	ORPHA:171
HP:0002910	Elevated hepatic transaminase	6925	TCF4	ORPHA:171
HP:0002910	Elevated hepatic transaminase	5896	RAG1	ORPHA:331206
HP:0002910	Elevated hepatic transaminase	5897	RAG2	ORPHA:331206
HP:0002910	Elevated hepatic transaminase	2538	G6PC1	OMIM:232200
HP:0002910	Elevated hepatic transaminase	22897	CEP164	OMIM:614845
HP:0002910	Elevated hepatic transaminase	3117	HLA-DQA1	OMIM:212750
HP:0002910	Elevated hepatic transaminase	3119	HLA-DQB1	OMIM:212750
HP:0002910	Elevated hepatic transaminase	7840	ALMS1	OMIM:203800
HP:0002910	Elevated hepatic transaminase	7840	ALMS1	ORPHA:64
HP:0002910	Elevated hepatic transaminase	1716	DGUOK	OMIM:251880
HP:0002910	Elevated hepatic transaminase	1716	DGUOK	OMIM:617068
HP:0002910	Elevated hepatic transaminase	10555	AGPAT2	OMIM:608594
HP:0002910	Elevated hepatic transaminase	1130	LYST	ORPHA:167
HP:0002910	Elevated hepatic transaminase	9377	COX5A	OMIM:619064
HP:0002910	Elevated hepatic transaminase	5424	POLD1	OMIM:615381
HP:0002910	Elevated hepatic transaminase	9131	AIFM1	OMIM:310490
HP:0002910	Elevated hepatic transaminase	4598	MVK	OMIM:610377
HP:0002910	Elevated hepatic transaminase	51021	MRPS16	OMIM:610498
HP:0002910	Elevated hepatic transaminase	63894	VIPAS39	OMIM:613404
HP:0002910	Elevated hepatic transaminase	28976	ACAD9	ORPHA:99901
HP:0002910	Elevated hepatic transaminase	28976	ACAD9	OMIM:611126
HP:0002910	Elevated hepatic transaminase	788	SLC25A20	ORPHA:159
HP:0002910	Elevated hepatic transaminase	788	SLC25A20	OMIM:212138
HP:0002910	Elevated hepatic transaminase	5373	PMM2	OMIM:212065
HP:0002910	Elevated hepatic transaminase	5373	PMM2	ORPHA:79318
HP:0002910	Elevated hepatic transaminase	1798	DPAGT1	ORPHA:86309
HP:0002910	Elevated hepatic transaminase	1798	DPAGT1	OMIM:608093
HP:0002910	Elevated hepatic transaminase	9056	SLC7A7	ORPHA:470
HP:0002910	Elevated hepatic transaminase	51594	NBAS	OMIM:616483
HP:0002910	Elevated hepatic transaminase	11277	TREX1	OMIM:192315
HP:0002910	Elevated hepatic transaminase	11277	TREX1	ORPHA:51
HP:0002910	Elevated hepatic transaminase	11277	TREX1	OMIM:225750
HP:0002910	Elevated hepatic transaminase	54914	FOCAD	OMIM:619991
HP:0002910	Elevated hepatic transaminase	2677	GGCX	OMIM:277450
HP:0002910	Elevated hepatic transaminase	10068	IL18BP	OMIM:618549
HP:0002910	Elevated hepatic transaminase	5566	PRKACA	ORPHA:189439
HP:0002910	Elevated hepatic transaminase	8622	PDE8B	ORPHA:189439
HP:0002910	Elevated hepatic transaminase	5573	PRKAR1A	ORPHA:189439
HP:0002910	Elevated hepatic transaminase	50940	PDE11A	ORPHA:189439
HP:0002910	Elevated hepatic transaminase	2321	FLT1	ORPHA:275555
HP:0002910	Elevated hepatic transaminase	219736	STOX1	ORPHA:275555
HP:0002910	Elevated hepatic transaminase	10699	CORIN	ORPHA:275555
HP:0002910	Elevated hepatic transaminase	5836	PYGL	OMIM:232700
HP:0002910	Elevated hepatic transaminase	5836	PYGL	ORPHA:369
HP:0002910	Elevated hepatic transaminase	10056	FARSB	OMIM:613658
HP:0002910	Elevated hepatic transaminase	2203	FBP1	ORPHA:348
HP:0002910	Elevated hepatic transaminase	472	ATM	ORPHA:100
HP:0002910	Elevated hepatic transaminase	5551	PRF1	OMIM:603553
HP:0002910	Elevated hepatic transaminase	5551	PRF1	ORPHA:540
HP:0002910	Elevated hepatic transaminase	6804	STX1A	ORPHA:586
HP:0002910	Elevated hepatic transaminase	2947	GSTM3	ORPHA:586
HP:0002910	Elevated hepatic transaminase	7040	TGFB1	ORPHA:586
HP:0002910	Elevated hepatic transaminase	2729	GCLC	ORPHA:586
HP:0002910	Elevated hepatic transaminase	1084	CEACAM3	ORPHA:586
HP:0002910	Elevated hepatic transaminase	6556	SLC11A1	ORPHA:586
HP:0002910	Elevated hepatic transaminase	51164	DCTN4	ORPHA:586
HP:0002910	Elevated hepatic transaminase	3783	KCNN4	ORPHA:586
HP:0002910	Elevated hepatic transaminase	4282	MIF	ORPHA:586
HP:0002910	Elevated hepatic transaminase	1909	EDNRA	ORPHA:586
HP:0002910	Elevated hepatic transaminase	6550	SLC9A3	ORPHA:586
HP:0002910	Elevated hepatic transaminase	115019	SLC26A9	ORPHA:586
HP:0002910	Elevated hepatic transaminase	3077	HFE	ORPHA:586
HP:0002910	Elevated hepatic transaminase	3077	HFE	OMIM:235200
HP:0002910	Elevated hepatic transaminase	11254	SLC6A14	ORPHA:586
HP:0002910	Elevated hepatic transaminase	5265	SERPINA1	ORPHA:586
HP:0002910	Elevated hepatic transaminase	5265	SERPINA1	OMIM:613490
HP:0002910	Elevated hepatic transaminase	1080	CFTR	ORPHA:586
HP:0002910	Elevated hepatic transaminase	22802	CLCA4	ORPHA:586
HP:0002910	Elevated hepatic transaminase	4680	CEACAM6	ORPHA:586
HP:0002910	Elevated hepatic transaminase	8818	DPM2	OMIM:615042
HP:0002910	Elevated hepatic transaminase	8818	DPM2	ORPHA:329178
HP:0002910	Elevated hepatic transaminase	7385	UQCRC2	OMIM:615160
HP:0002910	Elevated hepatic transaminase	57169	ZNFX1	OMIM:619644
HP:0002910	Elevated hepatic transaminase	25970	SH2B1	ORPHA:329249
HP:0002910	Elevated hepatic transaminase	8647	ABCB11	ORPHA:69665
HP:0002910	Elevated hepatic transaminase	182	JAG1	OMIM:118450
HP:0002910	Elevated hepatic transaminase	23175	LPIN1	ORPHA:99845
HP:0002910	Elevated hepatic transaminase	4512	MT-CO1	ORPHA:99845
HP:0002910	Elevated hepatic transaminase	4514	MT-CO3	ORPHA:99845
HP:0002910	Elevated hepatic transaminase	6392	SDHD	ORPHA:100093
HP:0002910	Elevated hepatic transaminase	51128	SAR1B	ORPHA:71
HP:0002910	Elevated hepatic transaminase	57104	PNPLA2	OMIM:610717
HP:0002910	Elevated hepatic transaminase	57104	PNPLA2	ORPHA:98908
HP:0002910	Elevated hepatic transaminase	9968	MED12	OMIM:301068
HP:0002910	Elevated hepatic transaminase	9493	KIF23	ORPHA:98870
HP:0002910	Elevated hepatic transaminase	29127	RACGAP1	ORPHA:98870
HP:0002910	Elevated hepatic transaminase	4846	NOS3	OMIM:189800
HP:0002910	Elevated hepatic transaminase	34	ACADM	ORPHA:42
HP:0002910	Elevated hepatic transaminase	34	ACADM	OMIM:201450
HP:0002910	Elevated hepatic transaminase	8813	DPM1	OMIM:608799
HP:0002910	Elevated hepatic transaminase	8813	DPM1	ORPHA:79322
HP:0002910	Elevated hepatic transaminase	811	CALR	ORPHA:131
HP:0002910	Elevated hepatic transaminase	3717	JAK2	ORPHA:131
HP:0002910	Elevated hepatic transaminase	2153	F5	ORPHA:131
HP:0002910	Elevated hepatic transaminase	5692	PSMB4	OMIM:617591
HP:0002910	Elevated hepatic transaminase	5698	PSMB9	OMIM:617591
HP:0002910	Elevated hepatic transaminase	125988	MICOS13	OMIM:618329
HP:0002910	Elevated hepatic transaminase	50943	FOXP3	ORPHA:37042
HP:0002910	Elevated hepatic transaminase	5194	PEX13	OMIM:614883
HP:0002910	Elevated hepatic transaminase	3172	HNF4A	OMIM:616026
HP:0002910	Elevated hepatic transaminase	3172	HNF4A	ORPHA:263455
HP:0002910	Elevated hepatic transaminase	57817	HAMP	OMIM:613313
HP:0002910	Elevated hepatic transaminase	57817	HAMP	ORPHA:79230
HP:0002910	Elevated hepatic transaminase	5824	PEX19	OMIM:614886
HP:0002910	Elevated hepatic transaminase	147007	TMEM199	OMIM:616829
HP:0002910	Elevated hepatic transaminase	84317	CCDC115	OMIM:616828
HP:0002910	Elevated hepatic transaminase	2184	FAH	OMIM:276700
HP:0002910	Elevated hepatic transaminase	79087	ALG12	ORPHA:79324
HP:0002910	Elevated hepatic transaminase	79053	ALG8	ORPHA:79325
HP:0002910	Elevated hepatic transaminase	197322	ACSF3	ORPHA:289504
HP:0002910	Elevated hepatic transaminase	1616	DAXX	ORPHA:100075
HP:0002910	Elevated hepatic transaminase	546	ATRX	ORPHA:100075
HP:0002910	Elevated hepatic transaminase	5825	ABCD3	OMIM:616278
HP:0002910	Elevated hepatic transaminase	54344	DPM3	ORPHA:263494
HP:0002910	Elevated hepatic transaminase	54344	DPM3	OMIM:612937
HP:0002910	Elevated hepatic transaminase	51067	YARS2	OMIM:613561
HP:0002910	Elevated hepatic transaminase	5256	PHKA2	ORPHA:264580
HP:0002910	Elevated hepatic transaminase	5256	PHKA2	OMIM:306000
HP:0002910	Elevated hepatic transaminase	5261	PHKG2	ORPHA:264580
HP:0002910	Elevated hepatic transaminase	5261	PHKG2	OMIM:613027
HP:0002910	Elevated hepatic transaminase	284119	CAVIN1	OMIM:613327
HP:0002910	Elevated hepatic transaminase	3242	HPD	OMIM:276710
HP:0002910	Elevated hepatic transaminase	2658	GDF2	OMIM:615506
HP:0002910	Elevated hepatic transaminase	10535	RNASEH2A	ORPHA:51
HP:0002910	Elevated hepatic transaminase	10535	RNASEH2A	OMIM:610333
HP:0002910	Elevated hepatic transaminase	84153	RNASEH2C	ORPHA:51
HP:0002910	Elevated hepatic transaminase	84153	RNASEH2C	OMIM:610329
HP:0002910	Elevated hepatic transaminase	25939	SAMHD1	ORPHA:51
HP:0002910	Elevated hepatic transaminase	79621	RNASEH2B	ORPHA:51
HP:0002910	Elevated hepatic transaminase	103	ADAR	ORPHA:51
HP:0002910	Elevated hepatic transaminase	100147744	RNU7-1	ORPHA:51
HP:0002910	Elevated hepatic transaminase	100147744	RNU7-1	OMIM:619487
HP:0002910	Elevated hepatic transaminase	134353	LSM11	ORPHA:51
HP:0002910	Elevated hepatic transaminase	64135	IFIH1	ORPHA:51
HP:0002910	Elevated hepatic transaminase	6309	SC5D	OMIM:607330
HP:0002910	Elevated hepatic transaminase	10159	ATP6AP2	OMIM:301045
HP:0002910	Elevated hepatic transaminase	291	SLC25A4	ORPHA:254892
HP:0002910	Elevated hepatic transaminase	3155	HMGCL	ORPHA:20
HP:0002910	Elevated hepatic transaminase	10466	COG5	ORPHA:263487
HP:0002910	Elevated hepatic transaminase	212	ALAS2	OMIM:300752
HP:0002910	Elevated hepatic transaminase	212	ALAS2	ORPHA:75563
HP:0002910	Elevated hepatic transaminase	22845	DOLK	ORPHA:91131
HP:0002910	Elevated hepatic transaminase	81570	CLPB	ORPHA:445038
HP:0002910	Elevated hepatic transaminase	55593	OTUD5	OMIM:301056
HP:0002910	Elevated hepatic transaminase	8676	STX11	ORPHA:540
HP:0002910	Elevated hepatic transaminase	201294	UNC13D	ORPHA:540
HP:0002910	Elevated hepatic transaminase	6813	STXBP2	ORPHA:540
HP:0002910	Elevated hepatic transaminase	91147	TMEM67	OMIM:216360
HP:0002910	Elevated hepatic transaminase	91147	TMEM67	ORPHA:1454
HP:0002910	Elevated hepatic transaminase	91147	TMEM67	ORPHA:84081
HP:0002910	Elevated hepatic transaminase	55182	RNF220	OMIM:619688
HP:0002910	Elevated hepatic transaminase	29998	BICRA	OMIM:619325
HP:0002910	Elevated hepatic transaminase	51601	LIPT1	OMIM:616299
HP:0002910	Elevated hepatic transaminase	79644	SRD5A3	OMIM:612379
HP:0002910	Elevated hepatic transaminase	79644	SRD5A3	ORPHA:324737
HP:0002910	Elevated hepatic transaminase	10166	SLC25A15	ORPHA:415
HP:0002910	Elevated hepatic transaminase	427	ASAH1	ORPHA:333
HP:0002910	Elevated hepatic transaminase	3106	HLA-B	ORPHA:36426
HP:0002910	Elevated hepatic transaminase	10320	IKZF1	ORPHA:36426
HP:0002910	Elevated hepatic transaminase	22796	COG2	OMIM:617395
HP:0002910	Elevated hepatic transaminase	55240	STEAP3	ORPHA:300298
HP:0002910	Elevated hepatic transaminase	3930	LBR	OMIM:613471
HP:0002910	Elevated hepatic transaminase	51218	GLRX5	OMIM:616860
HP:0002910	Elevated hepatic transaminase	6928	HNF1B	OMIM:137920
HP:0002910	Elevated hepatic transaminase	6928	HNF1B	ORPHA:261265
HP:0002910	Elevated hepatic transaminase	6928	HNF1B	ORPHA:93111
HP:0002910	Elevated hepatic transaminase	7019	TFAM	OMIM:617156
HP:0002910	Elevated hepatic transaminase	11274	USP18	OMIM:617397
HP:0002910	Elevated hepatic transaminase	10616	RBCK1	OMIM:615895
HP:0002910	Elevated hepatic transaminase	708	C1QBP	OMIM:617713
HP:0002910	Elevated hepatic transaminase	5257	PHKB	ORPHA:79240
HP:0002910	Elevated hepatic transaminase	3431	SP110	ORPHA:79124
HP:0002910	Elevated hepatic transaminase	128989	TANGO2	ORPHA:480864
HP:0002910	Elevated hepatic transaminase	128989	TANGO2	OMIM:616878
HP:0002910	Elevated hepatic transaminase	4547	MTTP	ORPHA:14
HP:0002910	Elevated hepatic transaminase	55340	GIMAP5	OMIM:619463
HP:0002910	Elevated hepatic transaminase	57511	COG6	OMIM:614576
HP:0002910	Elevated hepatic transaminase	7289	TULP3	OMIM:619902
HP:0002910	Elevated hepatic transaminase	56623	INPP5E	ORPHA:1454
HP:0002910	Elevated hepatic transaminase	23322	RPGRIP1L	ORPHA:1454
HP:0002910	Elevated hepatic transaminase	57545	CC2D2A	ORPHA:1454
HP:0002910	Elevated hepatic transaminase	57545	CC2D2A	OMIM:619111
HP:0002910	Elevated hepatic transaminase	672	BRCA1	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	285282	RABL3	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	7157	TP53	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	675	BRCA2	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	3845	KRAS	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	1029	CDKN2A	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	79728	PALB2	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	4089	SMAD4	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	23022	PALLD	ORPHA:1333
HP:0002910	Elevated hepatic transaminase	23495	TNFRSF13B	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	4790	NFKB1	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	4791	NFKB2	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	115650	TNFRSF13C	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	1380	CR2	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	8742	TNFSF12	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	930	CD19	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	29851	ICOS	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	931	MS4A1	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	975	CD81	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	359948	IRF2BP2	ORPHA:1572
HP:0002910	Elevated hepatic transaminase	148738	HJV	ORPHA:79230
HP:0002910	Elevated hepatic transaminase	5498	PPOX	ORPHA:79473
HP:0002910	Elevated hepatic transaminase	1756	DMD	ORPHA:98895
HP:0002910	Elevated hepatic transaminase	650	BMP2	OMIM:235200
HP:0002910	Elevated hepatic transaminase	26160	IFT172	OMIM:619471
HP:0002910	Elevated hepatic transaminase	3939	LDHA	ORPHA:284426
HP:0002910	Elevated hepatic transaminase	51241	COX16	OMIM:619355
HP:0002910	Elevated hepatic transaminase	3975	LHX1	ORPHA:261265
HP:0002910	Elevated hepatic transaminase	10367	MICU1	OMIM:615673
HP:0002910	Elevated hepatic transaminase	26580	BSCL2	OMIM:269700
HP:0002910	Elevated hepatic transaminase	6711	SPTBN1	OMIM:619475
HP:0002910	Elevated hepatic transaminase	51520	LARS1	OMIM:615438
HP:0002910	Elevated hepatic transaminase	4534	MTM1	OMIM:310400
HP:0002910	Elevated hepatic transaminase	7036	TFR2	OMIM:604250
HP:0002910	Elevated hepatic transaminase	440138	ALG11	ORPHA:280071
HP:0002910	Elevated hepatic transaminase	10651	MTX2	OMIM:619127
HP:0002910	Elevated hepatic transaminase	51124	IER3IP1	OMIM:614231
HP:0002910	Elevated hepatic transaminase	200931	SLC51A	OMIM:619484
HP:0002910	Elevated hepatic transaminase	51816	ADA2	OMIM:615688
HP:0002910	Elevated hepatic transaminase	28957	MRPS28	OMIM:618958
HP:0002910	Elevated hepatic transaminase	3075	CFH	ORPHA:244242
HP:0002910	Elevated hepatic transaminase	3426	CFI	ORPHA:244242
HP:0002910	Elevated hepatic transaminase	4179	CD46	ORPHA:244242
HP:0002910	Elevated hepatic transaminase	101101692	HELLPAR	ORPHA:244242
HP:0002910	Elevated hepatic transaminase	51473	DCDC2	ORPHA:84081
HP:0002910	Elevated hepatic transaminase	2998	GYS2	ORPHA:2089
HP:0002910	Elevated hepatic transaminase	100506658	OCLN	OMIM:251290
HP:0002910	Elevated hepatic transaminase	3033	HADH	ORPHA:71212
HP:0002910	Elevated hepatic transaminase	27232	GNMT	OMIM:606664
HP:0002910	Elevated hepatic transaminase	617	BCS1L	OMIM:124000
HP:0002910	Elevated hepatic transaminase	51	ACOX1	OMIM:264470
HP:0002910	Elevated hepatic transaminase	1650	DDOST	ORPHA:300536
HP:0002910	Elevated hepatic transaminase	2819	GPD1	OMIM:614480
HP:0002910	Elevated hepatic transaminase	1537	CYC1	OMIM:615453
HP:0002910	Elevated hepatic transaminase	2193	FARSA	OMIM:619013
HP:0002910	Elevated hepatic transaminase	178	AGL	OMIM:232400
HP:0002910	Elevated hepatic transaminase	51099	ABHD5	ORPHA:98907
HP:0002910	Elevated hepatic transaminase	5557	PRIM1	OMIM:620005
HP:0002910	Elevated hepatic transaminase	3295	HSD17B4	OMIM:261515
HP:0002910	Elevated hepatic transaminase	10020	GNE	ORPHA:3166
HP:0002910	Elevated hepatic transaminase	8481	OFD1	ORPHA:2750
HP:0002910	Elevated hepatic transaminase	9451	EIF2AK3	ORPHA:1667
HP:0002910	Elevated hepatic transaminase	37	ACADVL	ORPHA:26793
HP:0002910	Elevated hepatic transaminase	4627	MYH9	ORPHA:182050
HP:0002910	Elevated hepatic transaminase	157657	CFAP418	OMIM:617406
HP:0002910	Elevated hepatic transaminase	90523	MLIP	OMIM:620138
HP:0002910	Elevated hepatic transaminase	5696	PSMB8	OMIM:256040
HP:0002910	Elevated hepatic transaminase	22909	FAN1	OMIM:614817
HP:0002910	Elevated hepatic transaminase	29929	ALG6	OMIM:603147
HP:0002910	Elevated hepatic transaminase	84342	COG8	OMIM:611182
HP:0002910	Elevated hepatic transaminase	91949	COG7	OMIM:608779
HP:0002910	Elevated hepatic transaminase	3376	IARS1	OMIM:617093
HP:0002910	Elevated hepatic transaminase	286053	NSMCE2	OMIM:617253
HP:0002910	Elevated hepatic transaminase	4952	OCRL	OMIM:300555
HP:0002910	Elevated hepatic transaminase	8482	SEMA7A	OMIM:619874
HP:0002910	Elevated hepatic transaminase	57128	LYRM4	OMIM:615595
HP:0002910	Elevated hepatic transaminase	65080	MRPL44	OMIM:615395
HP:0002910	Elevated hepatic transaminase	570	BAAT	OMIM:619232
HP:0002910	Elevated hepatic transaminase	11222	MRPL3	OMIM:614582
HP:0002910	Elevated hepatic transaminase	7381	UQCRB	OMIM:615158
HP:0002910	Elevated hepatic transaminase	5009	OTC	OMIM:311250
HP:0002910	Elevated hepatic transaminase	5580	PRKCD	OMIM:615559
HP:0002910	Elevated hepatic transaminase	5828	PEX2	OMIM:614866
HP:0002910	Elevated hepatic transaminase	435	ASL	OMIM:207900
HP:0002910	Elevated hepatic transaminase	2592	GALT	OMIM:230400
HP:0002910	Elevated hepatic transaminase	338	APOB	OMIM:615558
HP:0002910	Elevated hepatic transaminase	9420	CYP7B1	OMIM:613812
HP:0002910	Elevated hepatic transaminase	9420	CYP7B1	ORPHA:79302
HP:0002910	Elevated hepatic transaminase	23600	AMACR	OMIM:214950
HP:0002910	Elevated hepatic transaminase	6609	SMPD1	OMIM:257200
HP:0002910	Elevated hepatic transaminase	123264	SLC51B	OMIM:619481
HP:0002910	Elevated hepatic transaminase	10165	SLC25A13	OMIM:605814
HP:0002910	Elevated hepatic transaminase	197131	UBR1	OMIM:243800
HP:0002910	Elevated hepatic transaminase	55610	VPS50	OMIM:619685
HP:0002910	Elevated hepatic transaminase	7504	XK	OMIM:300842
HP:0002910	Elevated hepatic transaminase	6514	SLC2A2	OMIM:227810
HP:0002910	Elevated hepatic transaminase	6514	SLC2A2	ORPHA:2088
HP:0002910	Elevated hepatic transaminase	6341	SCO1	OMIM:619048
HP:0002910	Elevated hepatic transaminase	4141	MARS1	OMIM:615486
HP:0002910	Elevated hepatic transaminase	3162	HMOX1	OMIM:614034
HP:0002910	Elevated hepatic transaminase	54931	TRMT10C	OMIM:616974
HP:0002910	Elevated hepatic transaminase	5184	PEPD	OMIM:170100
HP:0002910	Elevated hepatic transaminase	131118	DNAJC19	OMIM:610198
HP:0002910	Elevated hepatic transaminase	2542	SLC37A4	OMIM:619525
HP:0002910	Elevated hepatic transaminase	8309	ACOX2	OMIM:617308
HP:0002910	Elevated hepatic transaminase	9409	PEX16	OMIM:614876
HP:0002910	Elevated hepatic transaminase	7486	WRN	OMIM:277700
HP:0002910	Elevated hepatic transaminase	540	ATP7B	OMIM:277900
HP:0002910	Elevated hepatic transaminase	3030	HADHA	OMIM:609015
HP:0002910	Elevated hepatic transaminase	56652	TWNK	OMIM:271245
HP:0002910	Elevated hepatic transaminase	2273	FHL1	OMIM:300280
HP:0002910	Elevated hepatic transaminase	1376	CPT2	OMIM:608836
HP:0002910	Elevated hepatic transaminase	79989	IFT56	OMIM:619534
HP:0002910	Elevated hepatic transaminase	51116	MRPS2	OMIM:617950
HP:0002910	Elevated hepatic transaminase	537	ATP6AP1	OMIM:300972
HP:0002910	Elevated hepatic transaminase	9215	LARGE1	OMIM:613154
HP:0002910	Elevated hepatic transaminase	50619	DEF6	OMIM:619573
HP:0002910	Elevated hepatic transaminase	348	APOE	OMIM:269600
HP:0002910	Elevated hepatic transaminase	3988	LIPA	OMIM:278000
HP:0002910	Elevated hepatic transaminase	11232	POLG2	OMIM:618528
HP:0002910	Elevated hepatic transaminase	9487	PIGL	OMIM:280000
HP:0002910	Elevated hepatic transaminase	859	CAV3	OMIM:614321
HP:0002910	Elevated hepatic transaminase	191	AHCY	OMIM:613752
HP:0002910	Elevated hepatic transaminase	1374	CPT1A	OMIM:255120
HP:0002910	Elevated hepatic transaminase	4358	MPV17	OMIM:256810
HP:0002910	Elevated hepatic transaminase	5236	PGM1	OMIM:614921
HP:0002910	Elevated hepatic transaminase	54532	USP53	OMIM:619658
HP:0002910	Elevated hepatic transaminase	5195	PEX14	OMIM:614887
HP:0002910	Elevated hepatic transaminase	55858	TMEM165	OMIM:614727
HP:0002910	Elevated hepatic transaminase	7841	MOGS	OMIM:606056
HP:0002910	Elevated hepatic transaminase	124454	EARS2	OMIM:614924
HP:0002910	Elevated hepatic transaminase	3158	HMGCS2	OMIM:605911
HP:0002910	Elevated hepatic transaminase	8802	SUCLG1	OMIM:245400
HP:0002910	Elevated hepatic transaminase	9054	NFS1	OMIM:619386
HP:0002910	Elevated hepatic transaminase	113220	KIF12	OMIM:619662
HP:0002910	Elevated hepatic transaminase	1794	DOCK2	OMIM:616433
HP:0002910	Elevated hepatic transaminase	23230	VPS13A	ORPHA:2388
HP:0002910	Elevated hepatic transaminase	9971	NR1H4	OMIM:617049
HP:0002910	Elevated hepatic transaminase	2683	B4GALT1	OMIM:607091
HP:0002910	Elevated hepatic transaminase	4645	MYO5B	OMIM:619868
HP:0002910	Elevated hepatic transaminase	26276	VPS33B	OMIM:620010
HP:0002910	Elevated hepatic transaminase	6584	SLC22A5	OMIM:212140
HP:0002910	Elevated hepatic transaminase	23019	CNOT1	OMIM:618500
HP:0002910	Elevated hepatic transaminase	132	ADK	OMIM:614300
HP:0002910	Elevated hepatic transaminase	5314	PKHD1	ORPHA:53035
HP:0002910	Elevated hepatic transaminase	2548	GAA	ORPHA:308552
HP:0002910	Elevated hepatic transaminase	226	ALDOA	OMIM:611881
HP:0002910	Elevated hepatic transaminase	5105	PCK1	OMIM:261680
HP:0002910	Elevated hepatic transaminase	26007	TKFC	OMIM:618805
HP:0002910	Elevated hepatic transaminase	8772	FADD	OMIM:613759
HP:0002910	Elevated hepatic transaminase	587	BCAT2	OMIM:618850
HP:0002910	Elevated hepatic transaminase	6773	STAT2	OMIM:616636
HP:0002910	Elevated hepatic transaminase	5244	ABCB4	OMIM:614972
HP:0002910	Elevated hepatic transaminase	5205	ATP8B1	OMIM:147480
HP:0006568	Increased hepatic glycogen content	5236	PGM1	OMIM:614921
HP:0006568	Increased hepatic glycogen content	5261	PHKG2	OMIM:613027
HP:0006568	Increased hepatic glycogen content	3172	HNF4A	ORPHA:263455
HP:0006568	Increased hepatic glycogen content	6514	SLC2A2	ORPHA:2088
HP:0006568	Increased hepatic glycogen content	5836	PYGL	OMIM:232700
HP:0006568	Increased hepatic glycogen content	5836	PYGL	ORPHA:369
HP:0006568	Increased hepatic glycogen content	208	AKT2	ORPHA:293964
HP:0006568	Increased hepatic glycogen content	5257	PHKB	OMIM:261750
HP:0006568	Increased hepatic glycogen content	10667	FARS2	OMIM:614946
HP:0006568	Increased hepatic glycogen content	6389	SDHA	OMIM:619259
HP:0006568	Increased hepatic glycogen content	54914	FOCAD	OMIM:619991
HP:0006568	Increased hepatic glycogen content	2542	SLC37A4	ORPHA:79259
HP:0006574	Hepatic arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0006574	Hepatic arteriovenous malformation	2022	ENG	OMIM:187300
HP:0006574	Hepatic arteriovenous malformation	4089	SMAD4	OMIM:175050
HP:0001410	Decreased liver function	1374	CPT1A	ORPHA:156
HP:0001410	Decreased liver function	26191	PTPN22	ORPHA:397
HP:0001410	Decreased liver function	3106	HLA-B	ORPHA:397
HP:0001410	Decreased liver function	8974	P4HA2	ORPHA:397
HP:0001410	Decreased liver function	6309	SC5D	ORPHA:46059
HP:0001410	Decreased liver function	72	ACTG2	OMIM:619431
HP:0001410	Decreased liver function	2632	GBE1	OMIM:232500
HP:0001410	Decreased liver function	26160	IFT172	OMIM:615630
HP:0001410	Decreased liver function	9414	TJP2	OMIM:615878
HP:0001410	Decreased liver function	2629	GBA1	OMIM:608013
HP:0001410	Decreased liver function	9420	CYP7B1	ORPHA:79302
HP:0001410	Decreased liver function	9420	CYP7B1	OMIM:613812
HP:0001410	Decreased liver function	6718	AKR1D1	ORPHA:79303
HP:0001410	Decreased liver function	6718	AKR1D1	OMIM:235555
HP:0001410	Decreased liver function	5009	OTC	ORPHA:664
HP:0001410	Decreased liver function	4535	MT-ND1	ORPHA:255210
HP:0001410	Decreased liver function	4536	MT-ND2	ORPHA:255210
HP:0001410	Decreased liver function	4537	MT-ND3	ORPHA:255210
HP:0001410	Decreased liver function	4538	MT-ND4	ORPHA:255210
HP:0001410	Decreased liver function	4567	MT-TL1	ORPHA:255210
HP:0001410	Decreased liver function	4578	MT-TW	ORPHA:255210
HP:0001410	Decreased liver function	4577	MT-TV	ORPHA:255210
HP:0001410	Decreased liver function	4508	MT-ATP6	ORPHA:255210
HP:0001410	Decreased liver function	4540	MT-ND5	ORPHA:255210
HP:0001410	Decreased liver function	4541	MT-ND6	ORPHA:255210
HP:0001410	Decreased liver function	4566	MT-TK	ORPHA:255210
HP:0001410	Decreased liver function	197131	UBR1	OMIM:243800
HP:0001410	Decreased liver function	4141	MARS1	OMIM:615486
HP:0001410	Decreased liver function	54658	UGT1A1	OMIM:143500
HP:0001410	Decreased liver function	2165	F13B	ORPHA:331
HP:0001410	Decreased liver function	2162	F13A1	ORPHA:331
HP:0001410	Decreased liver function	427	ASAH1	ORPHA:333
HP:0001410	Decreased liver function	27235	COQ2	OMIM:607426
HP:0001410	Decreased liver function	51473	DCDC2	OMIM:617394
HP:0001410	Decreased liver function	5105	PCK1	OMIM:261680
HP:0001410	Decreased liver function	50619	DEF6	OMIM:619573
HP:0001410	Decreased liver function	7019	TFAM	OMIM:617156
HP:0001410	Decreased liver function	3988	LIPA	OMIM:278000
HP:0001410	Decreased liver function	3988	LIPA	ORPHA:75233
HP:0001410	Decreased liver function	3988	LIPA	ORPHA:75234
HP:0001410	Decreased liver function	4358	MPV17	OMIM:256810
HP:0001410	Decreased liver function	55764	IFT122	OMIM:218330
HP:0001410	Decreased liver function	1716	DGUOK	OMIM:251880
HP:0001410	Decreased liver function	9971	NR1H4	OMIM:617049
HP:0001410	Decreased liver function	25839	COG4	OMIM:613489
HP:0001410	Decreased liver function	788	SLC25A20	ORPHA:159
HP:0001410	Decreased liver function	8241	RBM10	OMIM:311900
HP:0001410	Decreased liver function	7840	ALMS1	ORPHA:64
HP:0001410	Decreased liver function	9056	SLC7A7	ORPHA:470
HP:0001410	Decreased liver function	80270	HSD3B7	OMIM:607765
HP:0001410	Decreased liver function	51241	COX16	OMIM:619355
HP:0001410	Decreased liver function	570	BAAT	OMIM:619232
HP:0001410	Decreased liver function	54914	FOCAD	OMIM:619991
HP:0001410	Decreased liver function	8364	H4C3	OMIM:619758
HP:0001410	Decreased liver function	5265	SERPINA1	ORPHA:60
HP:0001410	Decreased liver function	5428	POLG	OMIM:203700
HP:0001410	Decreased liver function	23600	AMACR	OMIM:214950
HP:0001410	Decreased liver function	378884	NHLRC1	ORPHA:501
HP:0001410	Decreased liver function	378884	NHLRC1	OMIM:254780
HP:0001410	Decreased liver function	7957	EPM2A	ORPHA:501
HP:0001410	Decreased liver function	7957	EPM2A	OMIM:254780
HP:0001410	Decreased liver function	3594	IL12RB1	ORPHA:186
HP:0001410	Decreased liver function	23534	TNPO3	ORPHA:186
HP:0001410	Decreased liver function	3592	IL12A	ORPHA:186
HP:0001410	Decreased liver function	6689	SPIB	ORPHA:186
HP:0001410	Decreased liver function	5450	POU2AF1	ORPHA:186
HP:0001410	Decreased liver function	9966	TNFSF15	ORPHA:186
HP:0001410	Decreased liver function	79258	MMEL1	ORPHA:186
HP:0001410	Decreased liver function	3663	IRF5	ORPHA:186
HP:0001410	Decreased liver function	5106	PCK2	OMIM:261650
HP:0001410	Decreased liver function	50615	IL21R	OMIM:615207
HP:0001410	Decreased liver function	182	JAG1	OMIM:118450
HP:0001410	Decreased liver function	28976	ACAD9	OMIM:611126
HP:0001410	Decreased liver function	6514	SLC2A2	ORPHA:2088
HP:0001410	Decreased liver function	540	ATP7B	OMIM:277900
HP:0001410	Decreased liver function	2271	FH	OMIM:606812
HP:0001410	Decreased liver function	9076	CLDN1	OMIM:607626
HP:0001410	Decreased liver function	2658	GDF2	ORPHA:774
HP:0001410	Decreased liver function	94	ACVRL1	ORPHA:774
HP:0001410	Decreased liver function	4089	SMAD4	ORPHA:774
HP:0001410	Decreased liver function	2022	ENG	ORPHA:774
HP:0001410	Decreased liver function	51081	MRPS7	OMIM:617872
HP:0001410	Decreased liver function	9652	SKIC3	OMIM:222470
HP:0001410	Decreased liver function	4724	NDUFS4	OMIM:252010
HP:0001410	Decreased liver function	29960	MRM2	OMIM:618567
HP:0001410	Decreased liver function	5824	PEX19	OMIM:614886
HP:0001410	Decreased liver function	5824	PEX19	ORPHA:912
HP:0001410	Decreased liver function	84317	CCDC115	OMIM:616828
HP:0001410	Decreased liver function	2184	FAH	OMIM:276700
HP:0001410	Decreased liver function	1376	CPT2	ORPHA:228305
HP:0001410	Decreased liver function	1376	CPT2	ORPHA:228308
HP:0001410	Decreased liver function	28962	OSTM1	OMIM:259720
HP:0001410	Decreased liver function	1616	DAXX	ORPHA:100075
HP:0001410	Decreased liver function	546	ATRX	ORPHA:100075
HP:0001410	Decreased liver function	5825	ABCD3	OMIM:616278
HP:0001410	Decreased liver function	80169	CTC1	ORPHA:1775
HP:0001410	Decreased liver function	26277	TINF2	ORPHA:1775
HP:0001410	Decreased liver function	55651	NHP2	ORPHA:1775
HP:0001410	Decreased liver function	79650	USB1	ORPHA:1775
HP:0001410	Decreased liver function	55135	WRAP53	ORPHA:1775
HP:0001410	Decreased liver function	51750	RTEL1	ORPHA:1775
HP:0001410	Decreased liver function	4869	NPM1	ORPHA:1775
HP:0001410	Decreased liver function	7012	TERC	ORPHA:1775
HP:0001410	Decreased liver function	55505	NOP10	ORPHA:1775
HP:0001410	Decreased liver function	5073	PARN	ORPHA:1775
HP:0001410	Decreased liver function	7015	TERT	ORPHA:1775
HP:0001410	Decreased liver function	1736	DKC1	ORPHA:1775
HP:0001410	Decreased liver function	7298	TYMS	ORPHA:1775
HP:0001410	Decreased liver function	57410	SCYL1	OMIM:616719
HP:0001410	Decreased liver function	8504	PEX3	ORPHA:912
HP:0001410	Decreased liver function	8799	PEX11B	ORPHA:912
HP:0001410	Decreased liver function	5830	PEX5	ORPHA:912
HP:0001410	Decreased liver function	5189	PEX1	ORPHA:912
HP:0001410	Decreased liver function	5193	PEX12	ORPHA:912
HP:0001410	Decreased liver function	5195	PEX14	ORPHA:912
HP:0001410	Decreased liver function	5277	PIGA	OMIM:301072
HP:0001410	Decreased liver function	10159	ATP6AP2	OMIM:301045
HP:0001410	Decreased liver function	171023	ASXL1	ORPHA:98850
HP:0001410	Decreased liver function	54790	TET2	ORPHA:98850
HP:0001410	Decreased liver function	867	CBL	ORPHA:98850
HP:0001410	Decreased liver function	861	RUNX1	ORPHA:98850
HP:0001410	Decreased liver function	6427	SRSF2	ORPHA:98850
HP:0001410	Decreased liver function	91949	COG7	OMIM:608779
HP:0001410	Decreased liver function	1738	DLD	OMIM:246900
HP:0001410	Decreased liver function	3376	IARS1	OMIM:617093
HP:0001410	Decreased liver function	57003	CCDC47	OMIM:618268
HP:0001410	Decreased liver function	4574	MT-TS1	OMIM:220110
HP:0001410	Decreased liver function	4570	MT-TN	OMIM:220110
HP:0001410	Decreased liver function	6834	SURF1	OMIM:220110
HP:0001410	Decreased liver function	6834	SURF1	ORPHA:70474
HP:0001410	Decreased liver function	5190	PEX6	OMIM:614863
HP:0001410	Decreased liver function	2592	GALT	OMIM:230400
HP:0001410	Decreased liver function	5828	PEX2	OMIM:614867
HP:0001410	Decreased liver function	84334	COA8	ORPHA:436271
HP:0001410	Decreased liver function	1650	DDOST	OMIM:614507
HP:0001410	Decreased liver function	10056	FARSB	OMIM:613658
HP:0001410	Decreased liver function	6261	RYR1	ORPHA:466650
HP:0001410	Decreased liver function	10128	LRPPRC	ORPHA:70472
HP:0001410	Decreased liver function	25915	NDUFAF3	ORPHA:70474
HP:0001410	Decreased liver function	4714	NDUFB8	ORPHA:70474
HP:0001410	Decreased liver function	4720	NDUFS2	ORPHA:70474
HP:0001410	Decreased liver function	9997	SCO2	ORPHA:70474
HP:0001410	Decreased liver function	56052	ALG1	ORPHA:79327
HP:0001410	Decreased liver function	5551	PRF1	ORPHA:540
HP:0001410	Decreased liver function	8676	STX11	ORPHA:540
HP:0001410	Decreased liver function	201294	UNC13D	ORPHA:540
HP:0001410	Decreased liver function	6813	STXBP2	ORPHA:540
HP:0001410	Decreased liver function	3043	HBB	ORPHA:231222
HP:0001410	Decreased liver function	22796	COG2	ORPHA:435934
HP:0001410	Decreased liver function	23395	LARS2	OMIM:617021
HP:0001410	Decreased liver function	7385	UQCRC2	OMIM:615160
HP:0001410	Decreased liver function	51601	LIPT1	OMIM:616299
HP:0001410	Decreased liver function	5192	PEX10	OMIM:614870
HP:0001410	Decreased liver function	5192	PEX10	OMIM:614871
HP:0001410	Decreased liver function	55278	QRSL1	OMIM:618835
HP:0001410	Decreased liver function	55670	PEX26	OMIM:614873
HP:0001410	Decreased liver function	54931	TRMT10C	OMIM:616974
HP:0001410	Decreased liver function	644	BLVRA	OMIM:614156
HP:0001410	Decreased liver function	51649	MRPS23	OMIM:618952
HP:0001410	Decreased liver function	9409	PEX16	OMIM:614877
HP:0001410	Decreased liver function	25973	PARS2	OMIM:618437
HP:0001410	Decreased liver function	100506658	OCLN	OMIM:251290
HP:0001410	Decreased liver function	283459	GATC	OMIM:618839
HP:0001410	Decreased liver function	617	BCS1L	OMIM:124000
HP:0001410	Decreased liver function	10166	SLC25A15	ORPHA:415
HP:0001410	Decreased liver function	10166	SLC25A15	OMIM:238970
HP:0001410	Decreased liver function	9968	MED12	OMIM:301068
HP:0001410	Decreased liver function	4351	MPI	ORPHA:79319
HP:0001410	Decreased liver function	34	ACADM	ORPHA:42
HP:0001410	Decreased liver function	6609	SMPD1	ORPHA:77293
HP:0001410	Decreased liver function	2954	GSTZ1	OMIM:617596
HP:0001410	Decreased liver function	125988	MICOS13	OMIM:618329
HP:0001410	Decreased liver function	738	VPS51	OMIM:618606
HP:0001410	Decreased liver function	5194	PEX13	OMIM:614883
HP:0001410	Decreased liver function	130589	GALM	ORPHA:570422
HP:0001410	Decreased liver function	55005	RMND1	OMIM:614922
HP:0001410	Decreased liver function	147007	TMEM199	OMIM:616829
HP:0001410	Decreased liver function	10195	ALG3	ORPHA:79321
HP:0001410	Decreased liver function	1130	LYST	ORPHA:167
HP:0001410	Decreased liver function	23193	GANAB	OMIM:600666
HP:0001410	Decreased liver function	55532	SLC30A10	OMIM:613280
HP:0001410	Decreased liver function	8772	FADD	ORPHA:306550
HP:0001410	Decreased liver function	79053	ALG8	OMIM:608104
HP:0001410	Decreased liver function	6888	TALDO1	OMIM:606003
HP:0001410	Decreased liver function	2235	FECH	ORPHA:79278
HP:0001410	Decreased liver function	56244	BTNL2	ORPHA:797
HP:0001410	Decreased liver function	3123	HLA-DRB1	ORPHA:797
HP:0001410	Decreased liver function	267010	RNU12	ORPHA:512260
HP:0001410	Decreased liver function	11232	POLG2	OMIM:618528
HP:0001410	Decreased liver function	85476	GFM1	OMIM:609060
HP:0001410	Decreased liver function	10068	IL18BP	OMIM:618549
HP:0001410	Decreased liver function	3875	KRT18	OMIM:215600
HP:0001410	Decreased liver function	331	XIAP	OMIM:308240
HP:0001410	Decreased liver function	4068	SH2D1A	OMIM:308240
HP:0001410	Decreased liver function	10320	IKZF1	ORPHA:36426
HP:0001410	Decreased liver function	811	CALR	ORPHA:131
HP:0001410	Decreased liver function	3717	JAK2	ORPHA:131
HP:0001410	Decreased liver function	2153	F5	ORPHA:131
HP:0001410	Decreased liver function	51594	NBAS	OMIM:616483
HP:0001410	Decreased liver function	55687	TRMU	OMIM:613070
HP:0001410	Decreased liver function	60561	RINT1	OMIM:618641
HP:0001410	Decreased liver function	1537	CYC1	OMIM:615453
HP:0001410	Decreased liver function	64840	PORCN	ORPHA:2092
HP:0001410	Decreased liver function	51520	LARS1	OMIM:615438
HP:0001410	Decreased liver function	83737	ITCH	ORPHA:228426
HP:0001410	Decreased liver function	779	CACNA1S	ORPHA:423
HP:0001410	Decreased liver function	9451	EIF2AK3	ORPHA:1667
HP:0001410	Decreased liver function	4210	MEFV	ORPHA:342
HP:0001410	Decreased liver function	57169	ZNFX1	OMIM:619644
HP:0001410	Decreased liver function	3033	HADH	ORPHA:71212
HP:0001410	Decreased liver function	4864	NPC1	OMIM:257220
HP:0001410	Decreased liver function	4576	MT-TT	ORPHA:254857
HP:0001410	Decreased liver function	56623	INPP5E	ORPHA:1454
HP:0001410	Decreased liver function	91147	TMEM67	ORPHA:1454
HP:0001410	Decreased liver function	23322	RPGRIP1L	ORPHA:1454
HP:0001410	Decreased liver function	57545	CC2D2A	ORPHA:1454
HP:0001410	Decreased liver function	654	BMP6	ORPHA:465508
HP:0001410	Decreased liver function	3077	HFE	ORPHA:465508
HP:0001410	Decreased liver function	3032	HADHB	ORPHA:746
HP:0001410	Decreased liver function	3030	HADHA	ORPHA:746
HP:0001410	Decreased liver function	2859	GPR35	ORPHA:171
HP:0001410	Decreased liver function	10507	SEMA4D	ORPHA:171
HP:0001410	Decreased liver function	4485	MST1	ORPHA:171
HP:0001410	Decreased liver function	6925	TCF4	ORPHA:171
HP:0001410	Decreased liver function	3431	SP110	ORPHA:79124
HP:0001410	Decreased liver function	229	ALDOB	ORPHA:469
HP:0006571	Reduced number of intrahepatic bile ducts	51473	DCDC2	ORPHA:84081
HP:0006571	Reduced number of intrahepatic bile ducts	91147	TMEM67	ORPHA:84081
HP:0006571	Reduced number of intrahepatic bile ducts	182	JAG1	OMIM:118450
HP:0006571	Reduced number of intrahepatic bile ducts	55788	LMBRD1	ORPHA:79284
HP:0006571	Reduced number of intrahepatic bile ducts	5195	PEX14	OMIM:614887
HP:0006572	Subacute progressive viral hepatitis	7157	TP53	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	4233	MET	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	8312	AXIN1	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	5290	PIK3CA	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	841	CASP8	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	5157	PDGFRL	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	3482	IGF2R	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	324	APC	OMIM:114550
HP:0006572	Subacute progressive viral hepatitis	1499	CTNNB1	OMIM:114550
HP:0006573	Acute hepatic steatosis	56922	MCCC1	OMIM:210200
HP:0006573	Acute hepatic steatosis	1581	CYP7A1	ORPHA:209902
HP:0006575	Intrahepatic cholestasis with episodic jaundice	5205	ATP8B1	OMIM:243300
HP:0006575	Intrahepatic cholestasis with episodic jaundice	5205	ATP8B1	OMIM:211600
HP:0006575	Intrahepatic cholestasis with episodic jaundice	427	ASAH1	ORPHA:333
HP:0006576	Hepatic vascular malformations	889	KRIT1	OMIM:116860
HP:0006577	Macronodular cirrhosis	8565	YARS1	OMIM:619418
HP:0006577	Macronodular cirrhosis	5557	PRIM1	OMIM:620005
HP:0032434	Delayed umbilical cord separation	3689	ITGB2	OMIM:116920
HP:0032434	Delayed umbilical cord separation	5880	RAC2	OMIM:608203
HP:0032434	Delayed umbilical cord separation	3572	IL6ST	OMIM:619752
HP:0032434	Delayed umbilical cord separation	4615	MYD88	OMIM:612260
HP:0032434	Delayed umbilical cord separation	6603	SMARCD2	OMIM:617475
HP:0032435	Neonatal omphalitis	10616	RBCK1	OMIM:615895
HP:0032435	Neonatal omphalitis	92579	G6PC3	OMIM:612541
HP:0032435	Neonatal omphalitis	3689	ITGB2	OMIM:116920
HP:0032435	Neonatal omphalitis	2215	FCGR3B	ORPHA:464370
HP:0032435	Neonatal omphalitis	81570	CLPB	OMIM:619835
HP:0032435	Neonatal omphalitis	5880	RAC2	OMIM:608203
HP:0032435	Neonatal omphalitis	6603	SMARCD2	OMIM:617475
HP:0032436	Abnormal circulating C-reactive protein concentration	9051	PSTPIP1	OMIM:604416
HP:0032436	Abnormal circulating C-reactive protein concentration	3689	ITGB2	OMIM:116920
HP:0032436	Abnormal circulating C-reactive protein concentration	90268	OTULIN	OMIM:617099
HP:0032436	Abnormal circulating C-reactive protein concentration	144811	LACC1	ORPHA:85414
HP:0032436	Abnormal circulating C-reactive protein concentration	4282	MIF	ORPHA:85414
HP:0032436	Abnormal circulating C-reactive protein concentration	3123	HLA-DRB1	ORPHA:85414
HP:0032436	Abnormal circulating C-reactive protein concentration	3569	IL6	ORPHA:85414
HP:0032436	Abnormal circulating C-reactive protein concentration	29775	CARD10	OMIM:619632
HP:0032436	Abnormal circulating C-reactive protein concentration	3702	ITK	OMIM:613011
HP:0032436	Abnormal circulating C-reactive protein concentration	114548	NLRP3	OMIM:191900
HP:0032436	Abnormal circulating C-reactive protein concentration	114548	NLRP3	OMIM:607115
HP:0032436	Abnormal circulating C-reactive protein concentration	114548	NLRP3	ORPHA:1451
HP:0032436	Abnormal circulating C-reactive protein concentration	114548	NLRP3	OMIM:120100
HP:0032436	Abnormal circulating C-reactive protein concentration	27178	IL37	OMIM:619398
HP:0032436	Abnormal circulating C-reactive protein concentration	3572	IL6ST	OMIM:619750
HP:0032436	Abnormal circulating C-reactive protein concentration	5580	PRKCD	OMIM:615559
HP:0032436	Abnormal circulating C-reactive protein concentration	1493	CTLA4	ORPHA:900
HP:0032436	Abnormal circulating C-reactive protein concentration	26191	PTPN22	ORPHA:900
HP:0032436	Abnormal circulating C-reactive protein concentration	26191	PTPN22	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	3115	HLA-DPB1	ORPHA:900
HP:0032436	Abnormal circulating C-reactive protein concentration	5657	PRTN3	ORPHA:900
HP:0032436	Abnormal circulating C-reactive protein concentration	3113	HLA-DPA1	ORPHA:900
HP:0032436	Abnormal circulating C-reactive protein concentration	58484	NLRC4	OMIM:616050
HP:0032436	Abnormal circulating C-reactive protein concentration	7317	UBA1	OMIM:301054
HP:0032436	Abnormal circulating C-reactive protein concentration	4210	MEFV	OMIM:249100
HP:0032436	Abnormal circulating C-reactive protein concentration	4210	MEFV	ORPHA:3243
HP:0032436	Abnormal circulating C-reactive protein concentration	4210	MEFV	OMIM:608068
HP:0032436	Abnormal circulating C-reactive protein concentration	57169	ZNFX1	OMIM:619644
HP:0032436	Abnormal circulating C-reactive protein concentration	3162	HMOX1	OMIM:614034
HP:0032436	Abnormal circulating C-reactive protein concentration	22861	NLRP1	OMIM:617388
HP:0032436	Abnormal circulating C-reactive protein concentration	1314	COPA	OMIM:616414
HP:0032436	Abnormal circulating C-reactive protein concentration	51816	ADA2	OMIM:615688
HP:0032436	Abnormal circulating C-reactive protein concentration	3557	IL1RN	OMIM:612852
HP:0032436	Abnormal circulating C-reactive protein concentration	91662	NLRP12	OMIM:611762
HP:0032436	Abnormal circulating C-reactive protein concentration	7132	TNFRSF1A	ORPHA:32960
HP:0032436	Abnormal circulating C-reactive protein concentration	331	XIAP	OMIM:308240
HP:0032436	Abnormal circulating C-reactive protein concentration	4068	SH2D1A	OMIM:308240
HP:0032436	Abnormal circulating C-reactive protein concentration	51371	POMP	OMIM:618048
HP:0032436	Abnormal circulating C-reactive protein concentration	50619	DEF6	OMIM:619573
HP:0032436	Abnormal circulating C-reactive protein concentration	340061	STING1	OMIM:615934
HP:0032436	Abnormal circulating C-reactive protein concentration	26525	IL36RN	OMIM:614204
HP:0032436	Abnormal circulating C-reactive protein concentration	10095	ARPC1B	OMIM:617718
HP:0032436	Abnormal circulating C-reactive protein concentration	6583	SLC22A4	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	4261	CIITA	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	51744	CD244	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	4795	NFKBIL1	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	3586	IL10	OMIM:180300
HP:0032436	Abnormal circulating C-reactive protein concentration	6850	SYK	OMIM:619381
HP:0032436	Abnormal circulating C-reactive protein concentration	2000	ELF4	OMIM:301074
HP:0032436	Abnormal circulating C-reactive protein concentration	205327	C2orf69	OMIM:619423
HP:0032436	Abnormal circulating C-reactive protein concentration	4689	NCF4	OMIM:613960
HP:0032436	Abnormal circulating C-reactive protein concentration	4598	MVK	OMIM:610377
HP:0032436	Abnormal circulating C-reactive protein concentration	5696	PSMB8	OMIM:256040
HP:0032436	Abnormal circulating C-reactive protein concentration	11330	CTRC	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	5644	PRSS1	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	5645	PRSS2	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	6690	SPINK1	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	846	CASR	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	1080	CFTR	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	1357	CPA1	ORPHA:676
HP:0032436	Abnormal circulating C-reactive protein concentration	7187	TRAF3	ORPHA:1930
HP:0032436	Abnormal circulating C-reactive protein concentration	81622	UNC93B1	ORPHA:1930
HP:0032436	Abnormal circulating C-reactive protein concentration	148022	TICAM1	ORPHA:1930
HP:0032436	Abnormal circulating C-reactive protein concentration	7098	TLR3	ORPHA:1930
HP:0032436	Abnormal circulating C-reactive protein concentration	29110	TBK1	ORPHA:1930
HP:0032436	Abnormal circulating C-reactive protein concentration	8838	CCN6	ORPHA:1159
HP:0032436	Abnormal circulating C-reactive protein concentration	3570	IL6R	OMIM:618944
HP:0032437	Reduced circulating C-reactive protein concecntration	3570	IL6R	OMIM:618944
HP:0032438	Platelet anisocytosis	3690	ITGB3	OMIM:619271
HP:0032438	Platelet anisocytosis	3674	ITGA2B	OMIM:187800
HP:0032438	Platelet anisocytosis	87	ACTN1	OMIM:615193
HP:0006580	Portal fibrosis	10165	SLC25A13	OMIM:605814
HP:0006580	Portal fibrosis	5244	ABCB4	OMIM:602347
HP:0006580	Portal fibrosis	23322	RPGRIP1L	OMIM:619113
HP:0006580	Portal fibrosis	55898	UNC45A	OMIM:619377
HP:0006580	Portal fibrosis	51473	DCDC2	OMIM:617394
HP:0006580	Portal fibrosis	5825	ABCD3	OMIM:616278
HP:0006580	Portal fibrosis	57545	CC2D2A	OMIM:619111
HP:0006580	Portal fibrosis	5256	PHKA2	ORPHA:264580
HP:0006580	Portal fibrosis	5261	PHKG2	ORPHA:264580
HP:0006580	Portal fibrosis	132	ADK	OMIM:614300
HP:0006580	Portal fibrosis	51134	CEP83	OMIM:615862
HP:0006580	Portal fibrosis	383	ARG1	OMIM:207800
HP:0006580	Portal fibrosis	57539	WDR35	OMIM:613610
HP:0006580	Portal fibrosis	4645	MYO5B	OMIM:619868
HP:0006580	Portal fibrosis	540	ATP7B	OMIM:277900
HP:0006580	Portal fibrosis	5836	PYGL	ORPHA:369
HP:0006581	Depletion of mitochondrial DNA in liver	11232	POLG2	OMIM:618528
HP:0006581	Depletion of mitochondrial DNA in liver	1716	DGUOK	OMIM:251880
HP:0006582	Reye syndrome-like episodes	4358	MPV17	OMIM:256810
HP:0006582	Reye syndrome-like episodes	162417	NAGS	ORPHA:927
HP:0006582	Reye syndrome-like episodes	3155	HMGCL	ORPHA:20
HP:0006582	Reye syndrome-like episodes	2203	FBP1	ORPHA:348
HP:0012000	EEG with generalized spikes	1106	CHD2	OMIM:615369
HP:0012000	EEG with generalized spikes	785	CACNB4	OMIM:613855
HP:0012001	EEG with generalized polyspikes	1106	CHD2	OMIM:615369
HP:0012001	EEG with generalized polyspikes	114327	EFHC1	OMIM:254770
HP:0012001	EEG with generalized polyspikes	23732	FRRS1L	ORPHA:725
HP:0012001	EEG with generalized polyspikes	2903	GRIN2A	ORPHA:725
HP:0012001	EEG with generalized polyspikes	2896	GRN	OMIM:614706
HP:0012001	EEG with generalized polyspikes	26047	CNTNAP2	ORPHA:163681
HP:0012002	Experiential epileptic aura	5138	PDE2A	ORPHA:31709
HP:0012002	Experiential epileptic aura	6334	SCN8A	ORPHA:31709
HP:0012002	Experiential epileptic aura	112476	PRRT2	ORPHA:31709
HP:0012002	Experiential epileptic aura	5649	RELN	OMIM:600512
HP:0012002	Experiential epileptic aura	64780	MICAL1	OMIM:600512
HP:0012002	Experiential epileptic aura	9211	LGI1	OMIM:600512
HP:0012002	Experiential epileptic aura	51083	GAL	OMIM:616461
HP:0012002	Experiential epileptic aura	8131	NPRL3	ORPHA:98820
HP:0012002	Experiential epileptic aura	10641	NPRL2	ORPHA:98820
HP:0012002	Experiential epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	5649	RELN	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	64780	MICAL1	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	9211	LGI1	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	51083	GAL	OMIM:616461
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	8131	NPRL3	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	10641	NPRL2	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	9681	DEPDC5	ORPHA:98820
HP:0012005	Deja vu aura	5649	RELN	OMIM:600512
HP:0012005	Deja vu aura	64780	MICAL1	OMIM:600512
HP:0012005	Deja vu aura	9211	LGI1	OMIM:600512
HP:0012005	Deja vu aura	51083	GAL	OMIM:616461
HP:0012005	Deja vu aura	8131	NPRL3	ORPHA:98820
HP:0012005	Deja vu aura	10641	NPRL2	ORPHA:98820
HP:0012005	Deja vu aura	9681	DEPDC5	ORPHA:98820
HP:0006583	Fatal liver failure in infancy	25839	COG4	ORPHA:263501
HP:0006583	Fatal liver failure in infancy	4864	NPC1	OMIM:257220
HP:0006583	Fatal liver failure in infancy	4576	MT-TT	ORPHA:254857
HP:0006584	Small abnormally formed scapulae	2261	FGFR3	OMIM:187601
HP:0006584	Small abnormally formed scapulae	2261	FGFR3	OMIM:187600
HP:0006584	Small abnormally formed scapulae	6662	SOX9	ORPHA:140
HP:0006585	Congenital pseudoarthrosis of the clavicle	1947	EFNB1	ORPHA:1520
HP:0006585	Congenital pseudoarthrosis of the clavicle	1947	EFNB1	OMIM:304110
HP:0006585	Congenital pseudoarthrosis of the clavicle	7476	WNT7A	OMIM:276820
HP:0006585	Congenital pseudoarthrosis of the clavicle	10269	ZMPSTE24	OMIM:275210
HP:0006585	Congenital pseudoarthrosis of the clavicle	865	CBFB	OMIM:620099
HP:0000766	Abnormal sternum morphology	55112	DYNC2I1	ORPHA:474
HP:0000766	Abnormal sternum morphology	26160	IFT172	ORPHA:474
HP:0000766	Abnormal sternum morphology	153241	CEP120	ORPHA:474
HP:0000766	Abnormal sternum morphology	57560	IFT80	ORPHA:474
HP:0000766	Abnormal sternum morphology	51626	DYNC2LI1	ORPHA:474
HP:0000766	Abnormal sternum morphology	79659	DYNC2H1	ORPHA:474
HP:0000766	Abnormal sternum morphology	9742	IFT140	ORPHA:474
HP:0000766	Abnormal sternum morphology	89891	DYNC2I2	ORPHA:474
HP:0000766	Abnormal sternum morphology	79809	TTC21B	ORPHA:474
HP:0000766	Abnormal sternum morphology	427	ASAH1	ORPHA:333
HP:0000766	Abnormal sternum morphology	5286	PIK3C2A	OMIM:618440
HP:0000766	Abnormal sternum morphology	89970	RSPRY1	ORPHA:457395
HP:0000766	Abnormal sternum morphology	29940	DSE	ORPHA:2953
HP:0000766	Abnormal sternum morphology	998	CDC42	ORPHA:487796
HP:0000766	Abnormal sternum morphology	998	CDC42	OMIM:616737
HP:0000766	Abnormal sternum morphology	84282	RNF135	ORPHA:137634
HP:0000766	Abnormal sternum morphology	368	ABCC6	OMIM:177850
HP:0000766	Abnormal sternum morphology	633	BGN	OMIM:300989
HP:0000766	Abnormal sternum morphology	5978	REST	OMIM:617626
HP:0000766	Abnormal sternum morphology	7042	TGFB2	OMIM:614816
HP:0000766	Abnormal sternum morphology	7042	TGFB2	ORPHA:91387
HP:0000766	Abnormal sternum morphology	4629	MYH11	ORPHA:91387
HP:0000766	Abnormal sternum morphology	4087	SMAD2	ORPHA:91387
HP:0000766	Abnormal sternum morphology	4089	SMAD4	ORPHA:91387
HP:0000766	Abnormal sternum morphology	59	ACTA2	ORPHA:91387
HP:0000766	Abnormal sternum morphology	5592	PRKG1	ORPHA:91387
HP:0000766	Abnormal sternum morphology	2301	FOXE3	ORPHA:91387
HP:0000766	Abnormal sternum morphology	4144	MAT2A	ORPHA:91387
HP:0000766	Abnormal sternum morphology	23493	HEY2	ORPHA:91387
HP:0000766	Abnormal sternum morphology	4638	MYLK	ORPHA:91387
HP:0000766	Abnormal sternum morphology	875	CBS	ORPHA:394
HP:0000766	Abnormal sternum morphology	875	CBS	OMIM:236200
HP:0000766	Abnormal sternum morphology	2218	FKTN	ORPHA:272
HP:0000766	Abnormal sternum morphology	2218	FKTN	OMIM:611588
HP:0000766	Abnormal sternum morphology	6910	TBX5	ORPHA:392
HP:0000766	Abnormal sternum morphology	6910	TBX5	OMIM:142900
HP:0000766	Abnormal sternum morphology	8216	LZTR1	OMIM:616564
HP:0000766	Abnormal sternum morphology	8216	LZTR1	ORPHA:648
HP:0000766	Abnormal sternum morphology	8216	LZTR1	OMIM:605275
HP:0000766	Abnormal sternum morphology	83932	SPRTN	OMIM:616200
HP:0000766	Abnormal sternum morphology	23135	KDM6B	OMIM:618505
HP:0000766	Abnormal sternum morphology	1947	EFNB1	ORPHA:1520
HP:0000766	Abnormal sternum morphology	1947	EFNB1	OMIM:304110
HP:0000766	Abnormal sternum morphology	4010	LMX1B	ORPHA:2614
HP:0000766	Abnormal sternum morphology	4010	LMX1B	OMIM:161200
HP:0000766	Abnormal sternum morphology	4204	MECP2	ORPHA:1762
HP:0000766	Abnormal sternum morphology	22800	RRAS2	OMIM:618624
HP:0000766	Abnormal sternum morphology	22800	RRAS2	ORPHA:648
HP:0000766	Abnormal sternum morphology	538	ATP7A	OMIM:304150
HP:0000766	Abnormal sternum morphology	538	ATP7A	ORPHA:565
HP:0000766	Abnormal sternum morphology	538	ATP7A	ORPHA:198
HP:0000766	Abnormal sternum morphology	1131	CHRM3	ORPHA:2970
HP:0000766	Abnormal sternum morphology	1131	CHRM3	OMIM:100100
HP:0000766	Abnormal sternum morphology	4125	MAN2B1	ORPHA:309282
HP:0000766	Abnormal sternum morphology	9578	CDC42BPB	OMIM:619841
HP:0000766	Abnormal sternum morphology	55790	CSGALNACT1	OMIM:618870
HP:0000766	Abnormal sternum morphology	1723	DHODH	OMIM:263750
HP:0000766	Abnormal sternum morphology	2782	GNB1	ORPHA:488613
HP:0000766	Abnormal sternum morphology	2782	GNB1	OMIM:616973
HP:0000766	Abnormal sternum morphology	2137	EXTL3	OMIM:617425
HP:0000766	Abnormal sternum morphology	65082	VPS33A	OMIM:617303
HP:0000766	Abnormal sternum morphology	84466	MEGF10	OMIM:614399
HP:0000766	Abnormal sternum morphology	23384	SPECC1L	ORPHA:1519
HP:0000766	Abnormal sternum morphology	79158	GNPTAB	OMIM:252500
HP:0000766	Abnormal sternum morphology	57539	WDR35	ORPHA:1515
HP:0000766	Abnormal sternum morphology	57539	WDR35	OMIM:613610
HP:0000766	Abnormal sternum morphology	112752	IFT43	ORPHA:1515
HP:0000766	Abnormal sternum morphology	51098	IFT52	ORPHA:1515
HP:0000766	Abnormal sternum morphology	55764	IFT122	ORPHA:1515
HP:0000766	Abnormal sternum morphology	55764	IFT122	OMIM:218330
HP:0000766	Abnormal sternum morphology	57728	WDR19	ORPHA:1515
HP:0000766	Abnormal sternum morphology	57728	WDR19	OMIM:614378
HP:0000766	Abnormal sternum morphology	4148	MATN3	ORPHA:156728
HP:0000766	Abnormal sternum morphology	4148	MATN3	OMIM:608728
HP:0000766	Abnormal sternum morphology	3190	HNRNPK	OMIM:616580
HP:0000766	Abnormal sternum morphology	284058	KANSL1	ORPHA:363958
HP:0000766	Abnormal sternum morphology	284058	KANSL1	OMIM:610443
HP:0000766	Abnormal sternum morphology	284058	KANSL1	ORPHA:363965
HP:0000766	Abnormal sternum morphology	55154	MSTO1	OMIM:617675
HP:0000766	Abnormal sternum morphology	55154	MSTO1	ORPHA:502423
HP:0000766	Abnormal sternum morphology	54453	RIN2	OMIM:613075
HP:0000766	Abnormal sternum morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000766	Abnormal sternum morphology	23545	ATP6V0A2	OMIM:278250
HP:0000766	Abnormal sternum morphology	64359	NXN	ORPHA:1507
HP:0000766	Abnormal sternum morphology	4920	ROR2	ORPHA:1507
HP:0000766	Abnormal sternum morphology	4920	ROR2	OMIM:268310
HP:0000766	Abnormal sternum morphology	1281	COL3A1	ORPHA:286
HP:0000766	Abnormal sternum morphology	1281	COL3A1	OMIM:130050
HP:0000766	Abnormal sternum morphology	171023	ASXL1	ORPHA:97297
HP:0000766	Abnormal sternum morphology	4297	KMT2A	ORPHA:319182
HP:0000766	Abnormal sternum morphology	57178	ZMIZ1	OMIM:618659
HP:0000766	Abnormal sternum morphology	8036	SHOC2	ORPHA:2701
HP:0000766	Abnormal sternum morphology	5500	PPP1CB	ORPHA:2701
HP:0000766	Abnormal sternum morphology	5500	PPP1CB	OMIM:617506
HP:0000766	Abnormal sternum morphology	93627	TBCK	ORPHA:488632
HP:0000766	Abnormal sternum morphology	200734	SPRED2	OMIM:619745
HP:0000766	Abnormal sternum morphology	200734	SPRED2	ORPHA:648
HP:0000766	Abnormal sternum morphology	4247	MGAT2	OMIM:212066
HP:0000766	Abnormal sternum morphology	4247	MGAT2	ORPHA:79329
HP:0000766	Abnormal sternum morphology	4053	LTBP2	OMIM:251750
HP:0000766	Abnormal sternum morphology	3476	IGBP1	ORPHA:52055
HP:0000766	Abnormal sternum morphology	3476	IGBP1	OMIM:300472
HP:0000766	Abnormal sternum morphology	3981	LIG4	ORPHA:235
HP:0000766	Abnormal sternum morphology	54888	NSUN2	ORPHA:235
HP:0000766	Abnormal sternum morphology	5518	PPP2R1A	OMIM:616362
HP:0000766	Abnormal sternum morphology	5518	PPP2R1A	ORPHA:457284
HP:0000766	Abnormal sternum morphology	8260	NAA10	OMIM:309800
HP:0000766	Abnormal sternum morphology	8260	NAA10	OMIM:300855
HP:0000766	Abnormal sternum morphology	54880	BCOR	OMIM:309800
HP:0000766	Abnormal sternum morphology	63895	PIEZO2	OMIM:114300
HP:0000766	Abnormal sternum morphology	63895	PIEZO2	ORPHA:376
HP:0000766	Abnormal sternum morphology	63895	PIEZO2	OMIM:108145
HP:0000766	Abnormal sternum morphology	63895	PIEZO2	ORPHA:1154
HP:0000766	Abnormal sternum morphology	63895	PIEZO2	ORPHA:2461
HP:0000766	Abnormal sternum morphology	51604	PIGT	OMIM:615398
HP:0000766	Abnormal sternum morphology	51604	PIGT	ORPHA:369837
HP:0000766	Abnormal sternum morphology	84665	MYPN	OMIM:617336
HP:0000766	Abnormal sternum morphology	84665	MYPN	ORPHA:171881
HP:0000766	Abnormal sternum morphology	9091	PIGQ	OMIM:618548
HP:0000766	Abnormal sternum morphology	5728	PTEN	ORPHA:109
HP:0000766	Abnormal sternum morphology	5728	PTEN	ORPHA:201
HP:0000766	Abnormal sternum morphology	5728	PTEN	OMIM:158350
HP:0000766	Abnormal sternum morphology	1859	DYRK1A	ORPHA:464311
HP:0000766	Abnormal sternum morphology	1859	DYRK1A	ORPHA:268261
HP:0000766	Abnormal sternum morphology	1859	DYRK1A	OMIM:614104
HP:0000766	Abnormal sternum morphology	5605	MAP2K2	OMIM:615280
HP:0000766	Abnormal sternum morphology	5605	MAP2K2	ORPHA:1340
HP:0000766	Abnormal sternum morphology	26137	ZBTB20	OMIM:259050
HP:0000766	Abnormal sternum morphology	26137	ZBTB20	ORPHA:3042
HP:0000766	Abnormal sternum morphology	2542	SLC37A4	OMIM:619525
HP:0000766	Abnormal sternum morphology	9772	TMEM94	OMIM:618316
HP:0000766	Abnormal sternum morphology	2316	FLNA	OMIM:304120
HP:0000766	Abnormal sternum morphology	2316	FLNA	ORPHA:555877
HP:0000766	Abnormal sternum morphology	2316	FLNA	OMIM:309350
HP:0000766	Abnormal sternum morphology	2316	FLNA	OMIM:311300
HP:0000766	Abnormal sternum morphology	23299	BICD2	OMIM:615290
HP:0000766	Abnormal sternum morphology	23483	TGDS	OMIM:616145
HP:0000766	Abnormal sternum morphology	23483	TGDS	ORPHA:1388
HP:0000766	Abnormal sternum morphology	57479	PRR12	OMIM:619539
HP:0000766	Abnormal sternum morphology	2260	FGFR1	OMIM:166250
HP:0000766	Abnormal sternum morphology	7994	KAT6A	OMIM:616268
HP:0000766	Abnormal sternum morphology	4883	NPR3	OMIM:619543
HP:0000766	Abnormal sternum morphology	10533	ATG7	OMIM:619422
HP:0000766	Abnormal sternum morphology	26173	INTS1	OMIM:618571
HP:0000766	Abnormal sternum morphology	1523	CUX1	OMIM:618330
HP:0000766	Abnormal sternum morphology	164	AP1G1	OMIM:619548
HP:0000766	Abnormal sternum morphology	3480	IGF1R	ORPHA:73273
HP:0000766	Abnormal sternum morphology	3480	IGF1R	OMIM:270450
HP:0000766	Abnormal sternum morphology	4088	SMAD3	ORPHA:284984
HP:0000766	Abnormal sternum morphology	4921	DDR2	OMIM:271665
HP:0000766	Abnormal sternum morphology	22827	PUF60	ORPHA:508498
HP:0000766	Abnormal sternum morphology	22827	PUF60	ORPHA:508488
HP:0000766	Abnormal sternum morphology	8076	MFAP5	OMIM:616166
HP:0000766	Abnormal sternum morphology	79912	PYROXD1	OMIM:617258
HP:0000766	Abnormal sternum morphology	6885	MAP3K7	OMIM:617137
HP:0000766	Abnormal sternum morphology	57122	NUP107	OMIM:618348
HP:0000766	Abnormal sternum morphology	128869	PIGU	OMIM:618590
HP:0000766	Abnormal sternum morphology	6567	SLC16A2	OMIM:300523
HP:0000766	Abnormal sternum morphology	6567	SLC16A2	ORPHA:59
HP:0000766	Abnormal sternum morphology	9871	SEC24D	OMIM:616294
HP:0000766	Abnormal sternum morphology	29998	BICRA	OMIM:619325
HP:0000766	Abnormal sternum morphology	388015	RTL1	ORPHA:254528
HP:0000766	Abnormal sternum morphology	388015	RTL1	ORPHA:96334
HP:0000766	Abnormal sternum morphology	8788	DLK1	ORPHA:254528
HP:0000766	Abnormal sternum morphology	8788	DLK1	ORPHA:96334
HP:0000766	Abnormal sternum morphology	55384	MEG3	ORPHA:254528
HP:0000766	Abnormal sternum morphology	55384	MEG3	ORPHA:96334
HP:0000766	Abnormal sternum morphology	1289	COL5A1	OMIM:619329
HP:0000766	Abnormal sternum morphology	1289	COL5A1	OMIM:130000
HP:0000766	Abnormal sternum morphology	51114	ZDHHC9	ORPHA:776
HP:0000766	Abnormal sternum morphology	65109	UPF3B	ORPHA:776
HP:0000766	Abnormal sternum morphology	65109	UPF3B	OMIM:300676
HP:0000766	Abnormal sternum morphology	9968	MED12	ORPHA:776
HP:0000766	Abnormal sternum morphology	9968	MED12	OMIM:309520
HP:0000766	Abnormal sternum morphology	56975	FAM20C	OMIM:259775
HP:0000766	Abnormal sternum morphology	6904	TBCD	ORPHA:496641
HP:0000766	Abnormal sternum morphology	3549	IHH	ORPHA:63446
HP:0000766	Abnormal sternum morphology	3549	IHH	OMIM:607778
HP:0000766	Abnormal sternum morphology	51434	ANAPC7	OMIM:619699
HP:0000766	Abnormal sternum morphology	4052	LTBP1	OMIM:619451
HP:0000766	Abnormal sternum morphology	92255	LMBRD2	OMIM:619694
HP:0000766	Abnormal sternum morphology	7170	TPM3	OMIM:609284
HP:0000766	Abnormal sternum morphology	7170	TPM3	ORPHA:171881
HP:0000766	Abnormal sternum morphology	7170	TPM3	ORPHA:2020
HP:0000766	Abnormal sternum morphology	5831	PYCR1	OMIM:612940
HP:0000766	Abnormal sternum morphology	9820	CUL7	OMIM:273750
HP:0000766	Abnormal sternum morphology	2010	EMD	OMIM:310300
HP:0000766	Abnormal sternum morphology	2010	EMD	ORPHA:98863
HP:0000766	Abnormal sternum morphology	5351	PLOD1	ORPHA:1900
HP:0000766	Abnormal sternum morphology	1009	CDH11	OMIM:211380
HP:0000766	Abnormal sternum morphology	1009	CDH11	ORPHA:1299
HP:0000766	Abnormal sternum morphology	444	ASPH	OMIM:601552
HP:0000766	Abnormal sternum morphology	10483	SEC23B	ORPHA:201
HP:0000766	Abnormal sternum morphology	6390	SDHB	ORPHA:201
HP:0000766	Abnormal sternum morphology	6392	SDHD	ORPHA:201
HP:0000766	Abnormal sternum morphology	6391	SDHC	ORPHA:201
HP:0000766	Abnormal sternum morphology	207	AKT1	ORPHA:201
HP:0000766	Abnormal sternum morphology	207	AKT1	OMIM:615109
HP:0000766	Abnormal sternum morphology	205717	USF3	ORPHA:201
HP:0000766	Abnormal sternum morphology	5290	PIK3CA	ORPHA:201
HP:0000766	Abnormal sternum morphology	5290	PIK3CA	OMIM:615108
HP:0000766	Abnormal sternum morphology	100144748	KLLN	ORPHA:201
HP:0000766	Abnormal sternum morphology	1280	COL2A1	OMIM:156550
HP:0000766	Abnormal sternum morphology	1280	COL2A1	ORPHA:166100
HP:0000766	Abnormal sternum morphology	1280	COL2A1	OMIM:108300
HP:0000766	Abnormal sternum morphology	22808	MRAS	OMIM:618499
HP:0000766	Abnormal sternum morphology	22808	MRAS	ORPHA:648
HP:0000766	Abnormal sternum morphology	4015	LOX	OMIM:617168
HP:0000766	Abnormal sternum morphology	2332	FMR1	OMIM:300624
HP:0000766	Abnormal sternum morphology	51729	WBP11	OMIM:619227
HP:0000766	Abnormal sternum morphology	1302	COL11A2	ORPHA:166100
HP:0000766	Abnormal sternum morphology	6611	SMS	ORPHA:3063
HP:0000766	Abnormal sternum morphology	6611	SMS	OMIM:309583
HP:0000766	Abnormal sternum morphology	57003	CCDC47	OMIM:618268
HP:0000766	Abnormal sternum morphology	5977	DPF2	OMIM:618027
HP:0000766	Abnormal sternum morphology	10526	IPO8	OMIM:619472
HP:0000766	Abnormal sternum morphology	10526	IPO8	ORPHA:60030
HP:0000766	Abnormal sternum morphology	1278	COL1A2	OMIM:225320
HP:0000766	Abnormal sternum morphology	1278	COL1A2	ORPHA:230851
HP:0000766	Abnormal sternum morphology	145173	B3GLCT	OMIM:261540
HP:0000766	Abnormal sternum morphology	1387	CREBBP	OMIM:180849
HP:0000766	Abnormal sternum morphology	2033	EP300	OMIM:180849
HP:0000766	Abnormal sternum morphology	80036	TRPM3	OMIM:620224
HP:0000766	Abnormal sternum morphology	3248	HPGD	OMIM:259100
HP:0000766	Abnormal sternum morphology	5894	RAF1	ORPHA:500
HP:0000766	Abnormal sternum morphology	5894	RAF1	ORPHA:648
HP:0000766	Abnormal sternum morphology	25839	COG4	OMIM:618150
HP:0000766	Abnormal sternum morphology	23405	DICER1	OMIM:618272
HP:0000766	Abnormal sternum morphology	113189	CHST14	OMIM:601776
HP:0000766	Abnormal sternum morphology	7204	TRIO	OMIM:617061
HP:0000766	Abnormal sternum morphology	7204	TRIO	ORPHA:476126
HP:0000766	Abnormal sternum morphology	2077	ERF	OMIM:617180
HP:0000766	Abnormal sternum morphology	9325	TRIP4	OMIM:617066
HP:0000766	Abnormal sternum morphology	9325	TRIP4	ORPHA:486815
HP:0000766	Abnormal sternum morphology	203068	TUBB	OMIM:156610
HP:0000766	Abnormal sternum morphology	6872	TAF1	OMIM:300966
HP:0000766	Abnormal sternum morphology	285590	SH3PXD2B	OMIM:249420
HP:0000766	Abnormal sternum morphology	374354	NHLRC2	OMIM:618278
HP:0000766	Abnormal sternum morphology	10651	MTX2	OMIM:619127
HP:0000766	Abnormal sternum morphology	10220	GDF11	OMIM:619122
HP:0000766	Abnormal sternum morphology	4617	MYF5	OMIM:618155
HP:0000766	Abnormal sternum morphology	55717	WDR11	OMIM:620237
HP:0000766	Abnormal sternum morphology	93587	TRMT10A	ORPHA:391408
HP:0000766	Abnormal sternum morphology	84919	PPP1R15B	ORPHA:391408
HP:0000766	Abnormal sternum morphology	84919	PPP1R15B	OMIM:616817
HP:0000766	Abnormal sternum morphology	23387	SIK3	OMIM:618162
HP:0000766	Abnormal sternum morphology	10084	PQBP1	OMIM:309500
HP:0000766	Abnormal sternum morphology	50515	CHST11	OMIM:618167
HP:0000766	Abnormal sternum morphology	2629	GBA1	ORPHA:2072
HP:0000766	Abnormal sternum morphology	11014	KDELR2	OMIM:619131
HP:0000766	Abnormal sternum morphology	10479	SLC9A6	ORPHA:85278
HP:0000766	Abnormal sternum morphology	9487	PIGL	OMIM:280000
HP:0000766	Abnormal sternum morphology	9487	PIGL	ORPHA:247262
HP:0000766	Abnormal sternum morphology	10491	CRTAP	OMIM:610682
HP:0000766	Abnormal sternum morphology	3295	HSD17B4	OMIM:261515
HP:0000766	Abnormal sternum morphology	867	CBL	ORPHA:648
HP:0000766	Abnormal sternum morphology	867	CBL	OMIM:613563
HP:0000766	Abnormal sternum morphology	6016	RIT1	ORPHA:648
HP:0000766	Abnormal sternum morphology	6237	RRAS	ORPHA:648
HP:0000766	Abnormal sternum morphology	3845	KRAS	ORPHA:648
HP:0000766	Abnormal sternum morphology	3845	KRAS	ORPHA:1340
HP:0000766	Abnormal sternum morphology	3845	KRAS	OMIM:609942
HP:0000766	Abnormal sternum morphology	4893	NRAS	ORPHA:648
HP:0000766	Abnormal sternum morphology	4893	NRAS	OMIM:613224
HP:0000766	Abnormal sternum morphology	6655	SOS2	ORPHA:648
HP:0000766	Abnormal sternum morphology	5922	RASA2	ORPHA:648
HP:0000766	Abnormal sternum morphology	5479	PPIB	OMIM:259440
HP:0000766	Abnormal sternum morphology	7474	WNT5A	OMIM:180700
HP:0000766	Abnormal sternum morphology	7474	WNT5A	ORPHA:3107
HP:0000766	Abnormal sternum morphology	1855	DVL1	OMIM:180700
HP:0000766	Abnormal sternum morphology	1855	DVL1	ORPHA:3107
HP:0000766	Abnormal sternum morphology	5727	PTCH1	ORPHA:77301
HP:0000766	Abnormal sternum morphology	374654	KIF7	ORPHA:166024
HP:0000766	Abnormal sternum morphology	374654	KIF7	OMIM:607131
HP:0000766	Abnormal sternum morphology	128674	PROKR2	OMIM:244200
HP:0000766	Abnormal sternum morphology	161742	SPRED1	OMIM:611431
HP:0000766	Abnormal sternum morphology	9839	ZEB2	OMIM:235730
HP:0000766	Abnormal sternum morphology	9839	ZEB2	ORPHA:261552
HP:0000766	Abnormal sternum morphology	9839	ZEB2	ORPHA:261537
HP:0000766	Abnormal sternum morphology	64324	NSD1	ORPHA:821
HP:0000766	Abnormal sternum morphology	29072	SETD2	ORPHA:821
HP:0000766	Abnormal sternum morphology	10297	APC2	ORPHA:821
HP:0000766	Abnormal sternum morphology	58	ACTA1	ORPHA:171436
HP:0000766	Abnormal sternum morphology	58	ACTA1	ORPHA:2020
HP:0000766	Abnormal sternum morphology	7169	TPM2	ORPHA:171436
HP:0000766	Abnormal sternum morphology	7169	TPM2	ORPHA:171881
HP:0000766	Abnormal sternum morphology	7169	TPM2	ORPHA:2020
HP:0000766	Abnormal sternum morphology	4703	NEB	ORPHA:171436
HP:0000766	Abnormal sternum morphology	10324	KLHL41	ORPHA:171436
HP:0000766	Abnormal sternum morphology	56203	LMOD3	ORPHA:171436
HP:0000766	Abnormal sternum morphology	1073	CFL2	ORPHA:171436
HP:0000766	Abnormal sternum morphology	2261	FGFR3	OMIM:610474
HP:0000766	Abnormal sternum morphology	25782	RAB3GAP2	OMIM:212720
HP:0000766	Abnormal sternum morphology	4233	MET	OMIM:607278
HP:0000766	Abnormal sternum morphology	84992	PIGY	ORPHA:247262
HP:0000766	Abnormal sternum morphology	84720	PIGO	ORPHA:247262
HP:0000766	Abnormal sternum morphology	93210	PGAP3	ORPHA:247262
HP:0000766	Abnormal sternum morphology	284098	PIGW	ORPHA:247262
HP:0000766	Abnormal sternum morphology	27315	PGAP2	ORPHA:247262
HP:0000766	Abnormal sternum morphology	55650	PIGV	ORPHA:247262
HP:0000766	Abnormal sternum morphology	57190	SELENON	ORPHA:2020
HP:0000766	Abnormal sternum morphology	4633	MYL2	ORPHA:2020
HP:0000766	Abnormal sternum morphology	3679	ITGA7	ORPHA:2020
HP:0000766	Abnormal sternum morphology	9200	HACD1	ORPHA:2020
HP:0000766	Abnormal sternum morphology	51776	MAP3K20	ORPHA:2020
HP:0000766	Abnormal sternum morphology	6663	SOX10	OMIM:611584
HP:0000766	Abnormal sternum morphology	1954	MEGF8	OMIM:614976
HP:0000766	Abnormal sternum morphology	2200	FBN1	OMIM:616914
HP:0000766	Abnormal sternum morphology	2200	FBN1	ORPHA:2462
HP:0000766	Abnormal sternum morphology	2200	FBN1	OMIM:154700
HP:0000766	Abnormal sternum morphology	165	AEBP1	ORPHA:536532
HP:0000766	Abnormal sternum morphology	9653	HS2ST1	OMIM:619194
HP:0000766	Abnormal sternum morphology	1857	DVL3	ORPHA:3107
HP:0000766	Abnormal sternum morphology	2535	FZD2	ORPHA:3107
HP:0000766	Abnormal sternum morphology	60	ACTB	ORPHA:64755
HP:0000766	Abnormal sternum morphology	6804	STX1A	ORPHA:904
HP:0000766	Abnormal sternum morphology	7461	CLIP2	ORPHA:904
HP:0000766	Abnormal sternum morphology	84277	DNAJC30	ORPHA:904
HP:0000766	Abnormal sternum morphology	8468	FKBP6	ORPHA:904
HP:0000766	Abnormal sternum morphology	5982	RFC2	ORPHA:904
HP:0000766	Abnormal sternum morphology	2969	GTF2I	ORPHA:904
HP:0000766	Abnormal sternum morphology	3984	LIMK1	ORPHA:904
HP:0000766	Abnormal sternum morphology	9569	GTF2IRD1	ORPHA:904
HP:0000766	Abnormal sternum morphology	155382	VPS37D	ORPHA:904
HP:0000766	Abnormal sternum morphology	155368	METTL27	ORPHA:904
HP:0000766	Abnormal sternum morphology	114049	BUD23	ORPHA:904
HP:0000766	Abnormal sternum morphology	7458	EIF4H	ORPHA:904
HP:0000766	Abnormal sternum morphology	84163	GTF2IRD2	ORPHA:904
HP:0000766	Abnormal sternum morphology	9275	BCL7B	ORPHA:904
HP:0000766	Abnormal sternum morphology	26608	TBL2	ORPHA:904
HP:0000766	Abnormal sternum morphology	653361	NCF1	ORPHA:904
HP:0000766	Abnormal sternum morphology	135886	TMEM270	ORPHA:904
HP:0000766	Abnormal sternum morphology	51085	MLXIPL	ORPHA:904
HP:0000766	Abnormal sternum morphology	51085	MLXIPL	OMIM:194050
HP:0000766	Abnormal sternum morphology	9031	BAZ1B	ORPHA:904
HP:0000766	Abnormal sternum morphology	2006	ELN	ORPHA:904
HP:0000766	Abnormal sternum morphology	2006	ELN	OMIM:194050
HP:0000766	Abnormal sternum morphology	10056	FARSB	OMIM:613658
HP:0000766	Abnormal sternum morphology	9289	ADGRG1	ORPHA:98889
HP:0000766	Abnormal sternum morphology	5297	PI4KA	ORPHA:98889
HP:0000766	Abnormal sternum morphology	27286	SRPX2	ORPHA:98889
HP:0000766	Abnormal sternum morphology	54499	TMCO1	OMIM:213980
HP:0000766	Abnormal sternum morphology	9719	ADAMTSL2	OMIM:231050
HP:0000766	Abnormal sternum morphology	1303	COL12A1	ORPHA:536516
HP:0000766	Abnormal sternum morphology	8050	PDHX	OMIM:245349
HP:0000766	Abnormal sternum morphology	5832	ALDH18A1	OMIM:219150
HP:0000766	Abnormal sternum morphology	4677	NARS1	OMIM:619092
HP:0000766	Abnormal sternum morphology	8242	KDM5C	OMIM:300534
HP:0000766	Abnormal sternum morphology	81031	SLC2A10	OMIM:208050
HP:0000766	Abnormal sternum morphology	7048	TGFBR2	OMIM:610168
HP:0000766	Abnormal sternum morphology	7048	TGFBR2	ORPHA:60030
HP:0000766	Abnormal sternum morphology	147372	CCBE1	OMIM:235510
HP:0000766	Abnormal sternum morphology	2273	FHL1	ORPHA:98863
HP:0000766	Abnormal sternum morphology	3339	HSPG2	ORPHA:800
HP:0000766	Abnormal sternum morphology	2317	FLNB	OMIM:150250
HP:0000766	Abnormal sternum morphology	2702	GJA5	OMIM:612474
HP:0000766	Abnormal sternum morphology	2703	GJA8	OMIM:612474
HP:0000766	Abnormal sternum morphology	7046	TGFBR1	ORPHA:60030
HP:0000766	Abnormal sternum morphology	84667	HES7	OMIM:613686
HP:0000766	Abnormal sternum morphology	55690	PACS1	ORPHA:329224
HP:0000766	Abnormal sternum morphology	2245	FGD1	ORPHA:915
HP:0000766	Abnormal sternum morphology	2245	FGD1	OMIM:305400
HP:0000766	Abnormal sternum morphology	6497	SKI	ORPHA:2462
HP:0000766	Abnormal sternum morphology	6497	SKI	OMIM:182212
HP:0000766	Abnormal sternum morphology	9894	TELO2	OMIM:616954
HP:0000766	Abnormal sternum morphology	196528	ARID2	OMIM:617808
HP:0000766	Abnormal sternum morphology	4000	LMNA	ORPHA:98855
HP:0000766	Abnormal sternum morphology	4000	LMNA	ORPHA:98853
HP:0000766	Abnormal sternum morphology	4038	LRP4	OMIM:212780
HP:0000766	Abnormal sternum morphology	26123	TCTN3	OMIM:258860
HP:0000766	Abnormal sternum morphology	79188	TMEM43	ORPHA:98853
HP:0000766	Abnormal sternum morphology	23345	SYNE1	ORPHA:98853
HP:0000766	Abnormal sternum morphology	23224	SYNE2	ORPHA:98853
HP:0000766	Abnormal sternum morphology	10075	HUWE1	OMIM:309590
HP:0000766	Abnormal sternum morphology	5979	RET	OMIM:162300
HP:0000766	Abnormal sternum morphology	9780	PIEZO1	OMIM:616843
HP:0000766	Abnormal sternum morphology	23394	ADNP	OMIM:615873
HP:0000766	Abnormal sternum morphology	91179	SCARF2	OMIM:600920
HP:0000766	Abnormal sternum morphology	4854	NOTCH3	OMIM:130720
HP:0000766	Abnormal sternum morphology	4854	NOTCH3	ORPHA:2789
HP:0000766	Abnormal sternum morphology	30008	EFEMP2	OMIM:614437
HP:0000766	Abnormal sternum morphology	10982	MAPRE2	OMIM:616734
HP:0000766	Abnormal sternum morphology	63035	BCORL1	OMIM:301029
HP:0000766	Abnormal sternum morphology	10265	IRX5	OMIM:611174
HP:0000766	Abnormal sternum morphology	64131	XYLT1	OMIM:615777
HP:0000766	Abnormal sternum morphology	79576	NKAP	OMIM:301039
HP:0000766	Abnormal sternum morphology	25	ABL1	OMIM:617602
HP:0000766	Abnormal sternum morphology	55969	RAB5IF	OMIM:616994
HP:0000766	Abnormal sternum morphology	55644	OSGEP	OMIM:617729
HP:0000766	Abnormal sternum morphology	760	CA2	ORPHA:2785
HP:0000766	Abnormal sternum morphology	23476	BRD4	ORPHA:199
HP:0000766	Abnormal sternum morphology	9126	SMC3	ORPHA:199
HP:0000766	Abnormal sternum morphology	8243	SMC1A	ORPHA:199
HP:0000766	Abnormal sternum morphology	55869	HDAC8	ORPHA:199
HP:0000766	Abnormal sternum morphology	5885	RAD21	ORPHA:199
HP:0000766	Abnormal sternum morphology	157680	VPS13B	ORPHA:193
HP:0000766	Abnormal sternum morphology	490	ATP2B1	OMIM:619910
HP:0000766	Abnormal sternum morphology	51360	MBTPS2	OMIM:301014
HP:0000766	Abnormal sternum morphology	83737	ITCH	OMIM:613385
HP:0000766	Abnormal sternum morphology	139285	AMER1	OMIM:300373
HP:0000766	Abnormal sternum morphology	4094	MAF	OMIM:601088
HP:0000766	Abnormal sternum morphology	126792	B3GALT6	ORPHA:536467
HP:0000766	Abnormal sternum morphology	126792	B3GALT6	OMIM:615349
HP:0000766	Abnormal sternum morphology	650	BMP2	OMIM:617877
HP:0000766	Abnormal sternum morphology	5430	POLR2A	OMIM:618603
HP:0000766	Abnormal sternum morphology	4621	MYH3	ORPHA:2990
HP:0000766	Abnormal sternum morphology	1146	CHRNG	ORPHA:2990
HP:0000766	Abnormal sternum morphology	10225	CD96	ORPHA:1308
HP:0000766	Abnormal sternum morphology	10516	FBLN5	OMIM:219100
HP:0000766	Abnormal sternum morphology	7043	TGFB3	OMIM:615582
HP:0000766	Abnormal sternum morphology	79875	THSD4	OMIM:619825
HP:0000766	Abnormal sternum morphology	3636	INPPL1	ORPHA:2746
HP:0000766	Abnormal sternum morphology	6736	SRY	ORPHA:1772
HP:0000766	Abnormal sternum morphology	25871	NEPRO	OMIM:618853
HP:0000766	Abnormal sternum morphology	4654	MYOD1	OMIM:618975
HP:0000766	Abnormal sternum morphology	11253	MAN1B1	ORPHA:397941
HP:0000766	Abnormal sternum morphology	4750	NEK1	OMIM:263520
HP:0000766	Abnormal sternum morphology	81857	MED25	OMIM:616449
HP:0000766	Abnormal sternum morphology	81857	MED25	ORPHA:464738
HP:0000766	Abnormal sternum morphology	5352	PLOD2	OMIM:609220
HP:0000766	Abnormal sternum morphology	64412	GZF1	OMIM:617662
HP:0000766	Abnormal sternum morphology	2201	FBN2	OMIM:121050
HP:0000766	Abnormal sternum morphology	4758	NEU1	ORPHA:812
HP:0000766	Abnormal sternum morphology	57231	SNX14	ORPHA:397709
HP:0000766	Abnormal sternum morphology	6926	TBX3	ORPHA:3138
HP:0000766	Abnormal sternum morphology	6660	SOX5	ORPHA:313892
HP:0000766	Abnormal sternum morphology	6660	SOX5	OMIM:616803
HP:0000766	Abnormal sternum morphology	84572	GNPTG	OMIM:252605
HP:0000766	Abnormal sternum morphology	137492	VPS37A	ORPHA:319199
HP:0000766	Abnormal sternum morphology	137492	VPS37A	OMIM:614898
HP:0000766	Abnormal sternum morphology	6023	RMRP	ORPHA:175
HP:0000766	Abnormal sternum morphology	317662	FAM149B1	OMIM:618763
HP:0000766	Abnormal sternum morphology	7345	UCHL1	OMIM:615491
HP:0000766	Abnormal sternum morphology	55870	ASH1L	OMIM:617796
HP:0000766	Abnormal sternum morphology	92579	G6PC3	OMIM:612541
HP:0000766	Abnormal sternum morphology	114034	TOE1	OMIM:614969
HP:0000766	Abnormal sternum morphology	649	BMP1	OMIM:614856
HP:0000766	Abnormal sternum morphology	175	AGA	ORPHA:93
HP:0000766	Abnormal sternum morphology	4853	NOTCH2	ORPHA:955
HP:0000766	Abnormal sternum morphology	3265	HRAS	OMIM:218040
HP:0000766	Abnormal sternum morphology	6911	TBX6	OMIM:122600
HP:0000766	Abnormal sternum morphology	54	ACP5	ORPHA:1855
HP:0000766	Abnormal sternum morphology	2335	FN1	OMIM:184255
HP:0000766	Abnormal sternum morphology	2335	FN1	ORPHA:93315
HP:0000766	Abnormal sternum morphology	59341	TRPV4	OMIM:184252
HP:0000766	Abnormal sternum morphology	59341	TRPV4	ORPHA:93314
HP:0000766	Abnormal sternum morphology	11285	B4GALT7	OMIM:130070
HP:0000766	Abnormal sternum morphology	3572	IL6ST	OMIM:619750
HP:0000766	Abnormal sternum morphology	79759	ZNF668	OMIM:620194
HP:0000766	Abnormal sternum morphology	4311	MME	ORPHA:497764
HP:0000766	Abnormal sternum morphology	4311	MME	OMIM:617018
HP:0000766	Abnormal sternum morphology	55210	ATAD3A	ORPHA:496790
HP:0000766	Abnormal sternum morphology	55210	ATAD3A	OMIM:617183
HP:0000766	Abnormal sternum morphology	6558	SLC12A2	OMIM:619080
HP:0000766	Abnormal sternum morphology	9321	TRIP11	OMIM:184260
HP:0000766	Abnormal sternum morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000766	Abnormal sternum morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000766	Abnormal sternum morphology	3187	HNRNPH1	OMIM:620083
HP:0000766	Abnormal sternum morphology	2121	EVC	OMIM:225500
HP:0000766	Abnormal sternum morphology	132884	EVC2	OMIM:225500
HP:0000766	Abnormal sternum morphology	7476	WNT7A	OMIM:276820
HP:0000766	Abnormal sternum morphology	7227	TRPS1	OMIM:190350
HP:0000766	Abnormal sternum morphology	7227	TRPS1	ORPHA:77258
HP:0000766	Abnormal sternum morphology	2263	FGFR2	OMIM:101200
HP:0000766	Abnormal sternum morphology	54808	DYM	ORPHA:239
HP:0000766	Abnormal sternum morphology	54808	DYM	OMIM:223800
HP:0000766	Abnormal sternum morphology	64132	XYLT2	OMIM:605822
HP:0000766	Abnormal sternum morphology	9759	HDAC4	OMIM:619797
HP:0000766	Abnormal sternum morphology	579	NKX3-2	OMIM:613330
HP:0000766	Abnormal sternum morphology	1305	COL13A1	OMIM:616720
HP:0000766	Abnormal sternum morphology	1305	COL13A1	ORPHA:98914
HP:0000766	Abnormal sternum morphology	9842	PLEKHM1	OMIM:618107
HP:0000766	Abnormal sternum morphology	23363	OBSL1	OMIM:612921
HP:0000766	Abnormal sternum morphology	256297	PTF1A	OMIM:609069
HP:0000766	Abnormal sternum morphology	411	ARSB	OMIM:253200
HP:0000766	Abnormal sternum morphology	1436	CSF1R	OMIM:618476
HP:0000766	Abnormal sternum morphology	10525	HYOU1	OMIM:233600
HP:0000766	Abnormal sternum morphology	2720	GLB1	ORPHA:79255
HP:0000766	Abnormal sternum morphology	3039	HBA1	ORPHA:98791
HP:0000766	Abnormal sternum morphology	3040	HBA2	ORPHA:98791
HP:0000766	Abnormal sternum morphology	29920	PYCR2	ORPHA:481152
HP:0000766	Abnormal sternum morphology	259232	NALCN	OMIM:615419
HP:0000766	Abnormal sternum morphology	3188	HNRNPH2	OMIM:300986
HP:0000766	Abnormal sternum morphology	64374	SIL1	ORPHA:559
HP:0000766	Abnormal sternum morphology	51763	INPP5K	ORPHA:559
HP:0000766	Abnormal sternum morphology	7138	TNNT1	OMIM:605355
HP:0000766	Abnormal sternum morphology	7138	TNNT1	ORPHA:98902
HP:0000766	Abnormal sternum morphology	3852	KRT5	OMIM:619599
HP:0000766	Abnormal sternum morphology	94005	PIGS	OMIM:618143
HP:0000766	Abnormal sternum morphology	2588	GALNS	OMIM:253000
HP:0000766	Abnormal sternum morphology	23233	EXOC6B	ORPHA:93359
HP:0000766	Abnormal sternum morphology	7343	UBTF	ORPHA:500180
HP:0000766	Abnormal sternum morphology	8720	MBTPS1	OMIM:618392
HP:0000766	Abnormal sternum morphology	9373	PLAA	ORPHA:521426
HP:0000766	Abnormal sternum morphology	9373	PLAA	OMIM:617527
HP:0000766	Abnormal sternum morphology	60482	SLC5A7	ORPHA:98914
HP:0000766	Abnormal sternum morphology	4649	MYO9A	ORPHA:98914
HP:0000766	Abnormal sternum morphology	1103	CHAT	ORPHA:98914
HP:0000766	Abnormal sternum morphology	6576	SLC25A1	ORPHA:98914
HP:0000766	Abnormal sternum morphology	6843	VAMP1	ORPHA:98914
HP:0000766	Abnormal sternum morphology	375790	AGRN	ORPHA:98914
HP:0000766	Abnormal sternum morphology	127833	SYT2	ORPHA:98914
HP:0000766	Abnormal sternum morphology	6572	SLC18A3	ORPHA:98914
HP:0000766	Abnormal sternum morphology	6616	SNAP25	ORPHA:98914
HP:0000766	Abnormal sternum morphology	54676	GTPBP2	OMIM:617988
HP:0000766	Abnormal sternum morphology	60681	FKBP10	OMIM:259450
HP:0000766	Abnormal sternum morphology	403	ARL3	OMIM:618161
HP:0000766	Abnormal sternum morphology	2990	GUSB	OMIM:253220
HP:0000766	Abnormal sternum morphology	203190	LGI3	OMIM:620007
HP:0000766	Abnormal sternum morphology	92344	GORAB	ORPHA:2078
HP:0000766	Abnormal sternum morphology	9469	CHST3	OMIM:245600
HP:0000766	Abnormal sternum morphology	26229	B3GAT3	OMIM:245600
HP:0000766	Abnormal sternum morphology	129285	PPP1R21	OMIM:619383
HP:0000766	Abnormal sternum morphology	83452	RAB33B	OMIM:615222
HP:0000766	Abnormal sternum morphology	92935	MARS2	OMIM:616430
HP:0000766	Abnormal sternum morphology	121340	SP7	OMIM:613849
HP:0000766	Abnormal sternum morphology	4784	NFIX	OMIM:602535
HP:0000766	Abnormal sternum morphology	57492	ARID1B	OMIM:135900
HP:0000766	Abnormal sternum morphology	25836	NIPBL	OMIM:122470
HP:0000766	Abnormal sternum morphology	79583	TMEM231	ORPHA:2752
HP:0000766	Abnormal sternum morphology	701	BUB1B	OMIM:257300
HP:0000766	Abnormal sternum morphology	9241	NOG	OMIM:186500
HP:0000766	Abnormal sternum morphology	4036	LRP2	OMIM:222448
HP:0000766	Abnormal sternum morphology	7703	PCGF2	OMIM:618371
HP:0000766	Abnormal sternum morphology	2719	GPC3	OMIM:312870
HP:0000766	Abnormal sternum morphology	2239	GPC4	OMIM:312870
HP:0000766	Abnormal sternum morphology	118924	FRA10AC1	OMIM:620113
HP:0000766	Abnormal sternum morphology	26040	SETBP1	OMIM:269150
HP:0000766	Abnormal sternum morphology	3911	LAMA5	OMIM:620076
HP:0000766	Abnormal sternum morphology	8241	RBM10	ORPHA:2886
HP:0000766	Abnormal sternum morphology	8241	RBM10	OMIM:311900
HP:0000766	Abnormal sternum morphology	9131	AIFM1	OMIM:300232
HP:0000766	Abnormal sternum morphology	23414	ZFPM2	ORPHA:2140
HP:0000766	Abnormal sternum morphology	9361	LONP1	ORPHA:2140
HP:0000766	Abnormal sternum morphology	2627	GATA6	ORPHA:2140
HP:0000766	Abnormal sternum morphology	5593	PRKG2	OMIM:619636
HP:0000766	Abnormal sternum morphology	7421	VDR	OMIM:277440
HP:0000766	Abnormal sternum morphology	1497	CTNS	OMIM:219800
HP:0000766	Abnormal sternum morphology	5251	PHEX	ORPHA:89936
HP:0000766	Abnormal sternum morphology	249	ALPL	OMIM:241500
HP:0000766	Abnormal sternum morphology	249	ALPL	OMIM:241510
HP:0000766	Abnormal sternum morphology	142680	SLC34A3	ORPHA:157215
HP:0000766	Abnormal sternum morphology	6569	SLC34A1	ORPHA:157215
HP:0000766	Abnormal sternum morphology	1594	CYP27B1	ORPHA:289157
HP:0000766	Abnormal sternum morphology	120227	CYP2R1	ORPHA:289157
HP:0000766	Abnormal sternum morphology	6654	SOS1	OMIM:610733
HP:0000766	Abnormal sternum morphology	4763	NF1	OMIM:601321
HP:0000766	Abnormal sternum morphology	5604	MAP2K1	OMIM:163950
HP:0000766	Abnormal sternum morphology	5781	PTPN11	OMIM:163950
HP:0000766	Abnormal sternum morphology	673	BRAF	OMIM:163950
HP:0000766	Abnormal sternum morphology	9896	FIG4	OMIM:216340
HP:0000766	Abnormal sternum morphology	9896	FIG4	ORPHA:3472
HP:0000766	Abnormal sternum morphology	6662	SOX9	OMIM:114290
HP:0000766	Abnormal sternum morphology	55697	VAC14	ORPHA:3472
HP:0000766	Abnormal sternum morphology	23594	ORC6	OMIM:613803
HP:0000766	Abnormal sternum morphology	4998	ORC1	OMIM:224690
HP:0000766	Abnormal sternum morphology	3930	LBR	OMIM:215140
HP:0000766	Abnormal sternum morphology	80144	FRAS1	OMIM:219000
HP:0000766	Abnormal sternum morphology	6197	RPS6KA3	OMIM:303600
HP:0000766	Abnormal sternum morphology	51339	DACT1	ORPHA:63260
HP:0000766	Abnormal sternum morphology	53834	FGFRL1	OMIM:194190
HP:0000766	Abnormal sternum morphology	1487	CTBP1	OMIM:194190
HP:0000766	Abnormal sternum morphology	3954	LETM1	OMIM:194190
HP:0000766	Abnormal sternum morphology	7468	NSD2	OMIM:194190
HP:0000766	Abnormal sternum morphology	10815	CPLX1	OMIM:194190
HP:0000766	Abnormal sternum morphology	63916	ELMO2	OMIM:606893
HP:0006587	Straight clavicles	139285	AMER1	OMIM:300373
HP:0006587	Straight clavicles	5116	PCNT	OMIM:210720
HP:0006587	Straight clavicles	3239	HOXD13	OMIM:113300
HP:0006589	Flaring of lower rib cage	54808	DYM	OMIM:223800
HP:0006589	Flaring of lower rib cage	6023	RMRP	OMIM:250250
HP:0006589	Flaring of lower rib cage	6023	RMRP	ORPHA:175
HP:0032443	Past medical history	3767	KCNJ11	ORPHA:276580
HP:0032443	Past medical history	3767	KCNJ11	OMIM:610582
HP:0032443	Past medical history	3767	KCNJ11	OMIM:616329
HP:0032443	Past medical history	3767	KCNJ11	ORPHA:99886
HP:0032443	Past medical history	2260	FGFR1	ORPHA:280200
HP:0032443	Past medical history	2260	FGFR1	ORPHA:3157
HP:0032443	Past medical history	28514	DLL1	ORPHA:280200
HP:0032443	Past medical history	2253	FGF8	ORPHA:280200
HP:0032443	Past medical history	6496	SIX3	ORPHA:280200
HP:0032443	Past medical history	7050	TGIF1	ORPHA:280200
HP:0032443	Past medical history	4838	NODAL	ORPHA:280200
HP:0032443	Past medical history	6469	SHH	ORPHA:280200
HP:0032443	Past medical history	51684	SUFU	ORPHA:280200
HP:0032443	Past medical history	7546	ZIC2	ORPHA:280200
HP:0032443	Past medical history	2619	GAS1	ORPHA:280200
HP:0032443	Past medical history	84976	DISP1	ORPHA:280200
HP:0032443	Past medical history	2736	GLI2	ORPHA:280200
HP:0032443	Past medical history	8928	FOXH1	ORPHA:280200
HP:0032443	Past medical history	5727	PTCH1	ORPHA:280200
HP:0032443	Past medical history	50937	CDON	ORPHA:280200
HP:0032443	Past medical history	2215	FCGR3B	ORPHA:464370
HP:0032443	Past medical history	11330	CTRC	ORPHA:103918
HP:0032443	Past medical history	6690	SPINK1	ORPHA:103918
HP:0032443	Past medical history	8260	NAA10	OMIM:300855
HP:0032443	Past medical history	5468	PPARG	ORPHA:79083
HP:0032443	Past medical history	5468	PPARG	OMIM:604367
HP:0032443	Past medical history	81839	VANGL1	ORPHA:3027
HP:0032443	Past medical history	80199	FUZ	ORPHA:3027
HP:0032443	Past medical history	4524	MTHFR	ORPHA:563612
HP:0032443	Past medical history	4524	MTHFR	ORPHA:563609
HP:0032443	Past medical history	57216	VANGL2	ORPHA:563612
HP:0032443	Past medical history	57216	VANGL2	ORPHA:563609
HP:0032443	Past medical history	6927	HNF1A	ORPHA:324575
HP:0032443	Past medical history	2697	GJA1	ORPHA:2248
HP:0032443	Past medical history	1482	NKX2-5	ORPHA:2248
HP:0032443	Past medical history	128674	PROKR2	ORPHA:3157
HP:0032443	Past medical history	6657	SOX2	ORPHA:3157
HP:0032443	Past medical history	6658	SOX3	ORPHA:3157
HP:0032443	Past medical history	9915	ARNT2	ORPHA:3157
HP:0032443	Past medical history	8820	HESX1	ORPHA:3157
HP:0032443	Past medical history	5015	OTX2	ORPHA:3157
HP:0032443	Past medical history	1280	COL2A1	ORPHA:93346
HP:0032443	Past medical history	1188	CLCNKB	ORPHA:358
HP:0032443	Past medical history	6559	SLC12A3	ORPHA:358
HP:0032443	Past medical history	346171	ZFP57	ORPHA:99886
HP:0032443	Past medical history	57061	HYMAI	ORPHA:99886
HP:0032443	Past medical history	6833	ABCC8	ORPHA:99886
HP:0032443	Past medical history	5325	PLAGL1	ORPHA:99886
HP:0032443	Past medical history	5053	PAH	OMIM:261600
HP:0032445	Pulmonary cyst	8565	YARS1	OMIM:619418
HP:0032445	Pulmonary cyst	201163	FLCN	OMIM:135150
HP:0032445	Pulmonary cyst	6720	SREBF1	OMIM:158310
HP:0032445	Pulmonary cyst	5297	PI4KA	ORPHA:436252
HP:0032445	Pulmonary cyst	57217	TTC7A	ORPHA:436252
HP:0032445	Pulmonary cyst	57217	TTC7A	OMIM:243150
HP:0032445	Pulmonary cyst	54361	WNT4	OMIM:611812
HP:0032445	Pulmonary cyst	6440	SFTPC	ORPHA:2032
HP:0032445	Pulmonary cyst	729238	SFTPA2	ORPHA:2032
HP:0032445	Pulmonary cyst	79991	STN1	ORPHA:2032
HP:0032445	Pulmonary cyst	653509	SFTPA1	ORPHA:2032
HP:0032445	Pulmonary cyst	21	ABCA3	ORPHA:2032
HP:0032445	Pulmonary cyst	21	ABCA3	OMIM:610921
HP:0032445	Pulmonary cyst	1832	DSP	ORPHA:2032
HP:0032445	Pulmonary cyst	727897	MUC5B	ORPHA:2032
HP:0032445	Pulmonary cyst	10144	FAM13A	ORPHA:2032
HP:0032445	Pulmonary cyst	23250	ATP11A	ORPHA:2032
HP:0032445	Pulmonary cyst	91039	DPP9	ORPHA:2032
HP:0032445	Pulmonary cyst	51750	RTEL1	ORPHA:2032
HP:0032445	Pulmonary cyst	7012	TERC	ORPHA:2032
HP:0032445	Pulmonary cyst	5073	PARN	ORPHA:2032
HP:0032445	Pulmonary cyst	5073	PARN	OMIM:616371
HP:0032445	Pulmonary cyst	7015	TERT	ORPHA:2032
HP:0032445	Pulmonary cyst	3572	IL6ST	OMIM:619752
HP:0032445	Pulmonary cyst	23405	DICER1	OMIM:618272
HP:0032445	Pulmonary cyst	5728	PTEN	ORPHA:2969
HP:0032445	Pulmonary cyst	5728	PTEN	ORPHA:744
HP:0032445	Pulmonary cyst	207	AKT1	ORPHA:744
HP:0032446	Pulmonary bulla	1281	COL3A1	OMIM:130050
HP:0032446	Pulmonary bulla	29775	CARD10	OMIM:619632
HP:0032447	Pulmonary bleb	1281	COL3A1	OMIM:130050
HP:0032447	Pulmonary bleb	64324	NSD1	ORPHA:821
HP:0032447	Pulmonary bleb	29072	SETD2	ORPHA:821
HP:0032447	Pulmonary bleb	10297	APC2	ORPHA:821
HP:0032448	Achlorhydria	57192	MCOLN1	OMIM:252650
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3909	LAMA3	ORPHA:79404
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3909	LAMA3	OMIM:619784
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3918	LAMC2	ORPHA:79404
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3918	LAMC2	OMIM:619785
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3914	LAMB3	ORPHA:79404
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3691	ITGB4	OMIM:619816
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3691	ITGB4	OMIM:226730
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	1308	COL17A1	ORPHA:79406
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3655	ITGA6	OMIM:619817
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	5339	PLEC	OMIM:131950
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	5339	PLEC	OMIM:226730
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3861	KRT14	OMIM:601001
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	667	DST	OMIM:615425
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	1832	DSP	ORPHA:158687
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	3728	JUP	ORPHA:158687
HP:0006591	Absent glenoid fossa	388015	RTL1	ORPHA:96334
HP:0006591	Absent glenoid fossa	8788	DLK1	ORPHA:96334
HP:0006591	Absent glenoid fossa	55384	MEG3	ORPHA:96334
HP:0006591	Absent glenoid fossa	4998	ORC1	OMIM:224690
HP:0000890	Long clavicles	3930	LBR	OMIM:215140
HP:0000890	Long clavicles	79848	CSPP1	ORPHA:397715
HP:0000890	Long clavicles	9786	KIAA0586	ORPHA:397715
HP:0000890	Long clavicles	1146	CHRNG	OMIM:265000
HP:0000890	Long clavicles	6913	TBX15	OMIM:260660
HP:0000890	Long clavicles	6905	TBCE	OMIM:244460
HP:0000890	Long clavicles	1301	COL11A1	OMIM:228520
HP:0000890	Long clavicles	100151683	RNU4ATAC	OMIM:210710
HP:0000890	Long clavicles	5116	PCNT	OMIM:210720
HP:0000890	Long clavicles	26040	SETBP1	OMIM:269150
HP:0000890	Long clavicles	388015	RTL1	ORPHA:96334
HP:0000890	Long clavicles	8788	DLK1	ORPHA:96334
HP:0000890	Long clavicles	55384	MEG3	ORPHA:96334
HP:0000890	Long clavicles	3248	HPGD	OMIM:259100
HP:0000890	Long clavicles	2317	FLNB	OMIM:108720
HP:0012010	EEG with frontal focal spike waves	23732	FRRS1L	ORPHA:725
HP:0012010	EEG with frontal focal spike waves	2903	GRIN2A	ORPHA:725
HP:0012012	EEG with parietal focal spike waves	57465	TBC1D24	ORPHA:163727
HP:0012014	EEG with central focal spikes	7030	TFE3	OMIM:301066
HP:0012014	EEG with central focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012014	EEG with central focal spikes	5297	PI4KA	ORPHA:98889
HP:0012014	EEG with central focal spikes	27286	SRPX2	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	2903	GRIN2A	ORPHA:98818
HP:0012015	EEG with frontal focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	5297	PI4KA	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	27286	SRPX2	ORPHA:98889
HP:0012016	EEG with occipital focal spikes	7030	TFE3	OMIM:301066
HP:0012017	EEG with parietal focal spikes	7030	TFE3	OMIM:301066
HP:0012017	EEG with parietal focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012017	EEG with parietal focal spikes	5297	PI4KA	ORPHA:98889
HP:0012017	EEG with parietal focal spikes	27286	SRPX2	ORPHA:98889
HP:0012018	EEG with temporal focal spikes	23229	ARHGEF9	ORPHA:163985
HP:0012018	EEG with temporal focal spikes	2782	GNB1	OMIM:616973
HP:0012018	EEG with temporal focal spikes	2903	GRIN2A	ORPHA:98818
HP:0012019	Lens luxation	1280	COL2A1	ORPHA:485
HP:0012019	Lens luxation	4337	MOCS1	OMIM:252150
HP:0012019	Lens luxation	1301	COL11A1	OMIM:154780
HP:0012019	Lens luxation	2200	FBN1	OMIM:608328
HP:0012019	Lens luxation	4338	MOCS2	OMIM:252160
HP:0012019	Lens luxation	113246	C12orf57	OMIM:218340
HP:0012019	Lens luxation	5076	PAX2	OMIM:120330
HP:0006593	Anomalous rib insertion to vertebrae	6628	SNRPB	OMIM:117650
HP:0006595	Scapulohumeral synostosis	145258	GSC	OMIM:602471
HP:0006596	Restricted chest movement	79158	GNPTAB	ORPHA:576
HP:0006597	Diaphragmatic paralysis	22880	MORC2	ORPHA:466768
HP:0006597	Diaphragmatic paralysis	2548	GAA	OMIM:232300
HP:0006597	Diaphragmatic paralysis	84466	MEGF10	OMIM:614399
HP:0006597	Diaphragmatic paralysis	7167	TPI1	ORPHA:868
HP:0006597	Diaphragmatic paralysis	9531	BAG3	OMIM:612954
HP:0006597	Diaphragmatic paralysis	3508	IGHMBP2	OMIM:604320
HP:0006597	Diaphragmatic paralysis	65055	REEP1	OMIM:620011
HP:0006598	Irregular ossification at anterior rib ends	51119	SBDS	OMIM:260400
HP:0006598	Irregular ossification at anterior rib ends	134218	DNAJC21	OMIM:260400
HP:0006598	Irregular ossification at anterior rib ends	6729	SRP54	OMIM:260400
HP:0032451	Oral melanotic macule	6794	STK11	OMIM:175200
HP:0032453	Abnormal lip pigmentation	1528	CYB5A	ORPHA:621
HP:0032453	Abnormal lip pigmentation	1727	CYB5R3	ORPHA:621
HP:0032453	Abnormal lip pigmentation	6794	STK11	OMIM:175200
HP:0032453	Abnormal lip pigmentation	215	ABCD1	ORPHA:139399
HP:0032454	Labial melanotic macule	6794	STK11	OMIM:175200
HP:0032458	Narrowing of medullary canal	4763	NF1	ORPHA:97685
HP:0032458	Narrowing of medullary canal	7040	TGFB1	OMIM:131300
HP:0032459	Abnormal phosphoribosylpyrophosphate synthetase level	5631	PRPS1	OMIM:311070
HP:0012020	Right aortic arch	6899	TBX1	OMIM:188400
HP:0012020	Right aortic arch	6899	TBX1	OMIM:192430
HP:0012020	Right aortic arch	78987	CRELD1	OMIM:606217
HP:0012020	Right aortic arch	9993	DGCR2	OMIM:192430
HP:0012020	Right aortic arch	8220	ESS2	OMIM:192430
HP:0012020	Right aortic arch	8214	DGCR6	OMIM:192430
HP:0012020	Right aortic arch	54487	DGCR8	OMIM:192430
HP:0012020	Right aortic arch	64220	STRA6	OMIM:601186
HP:0012020	Right aortic arch	7490	WT1	OMIM:608978
HP:0012020	Right aortic arch	80232	WDR26	ORPHA:513456
HP:0012020	Right aortic arch	80232	WDR26	OMIM:617616
HP:0012020	Right aortic arch	137814	NKX2-6	ORPHA:3384
HP:0012020	Right aortic arch	23129	PLXND1	ORPHA:3384
HP:0012020	Right aortic arch	1770	DNAH9	OMIM:618300
HP:0012020	Right aortic arch	79989	IFT56	OMIM:619534
HP:0012020	Right aortic arch	2324	FLT4	OMIM:618780
HP:0012020	Right aortic arch	168507	PKD1L1	OMIM:617205
HP:0012020	Right aortic arch	25981	DNAH1	OMIM:617577
HP:0012020	Right aortic arch	93	ACVR2B	OMIM:613751
HP:0012020	Right aortic arch	54916	TMEM260	OMIM:617478
HP:0012020	Right aortic arch	220136	CFAP53	OMIM:614779
HP:0012020	Right aortic arch	55636	CHD7	OMIM:214800
HP:0012020	Right aortic arch	100128908	CIROP	OMIM:619702
HP:0012020	Right aortic arch	2657	GDF1	OMIM:613854
HP:0012020	Right aortic arch	10992	SF3B2	OMIM:164210
HP:0012020	Right aortic arch	118856	MMP21	OMIM:616749
HP:0012023	Galactosuria	2584	GALK1	OMIM:230200
HP:0012023	Galactosuria	2592	GALT	OMIM:230400
HP:0012023	Galactosuria	9652	SKIC3	OMIM:222470
HP:0012023	Galactosuria	2582	GALE	OMIM:230350
HP:0012024	Hypergalactosemia	2584	GALK1	OMIM:230200
HP:0012024	Hypergalactosemia	2584	GALK1	ORPHA:79237
HP:0012024	Hypergalactosemia	130589	GALM	ORPHA:570422
HP:0012024	Hypergalactosemia	130589	GALM	OMIM:618881
HP:0012024	Hypergalactosemia	2592	GALT	OMIM:230400
HP:0012024	Hypergalactosemia	10165	SLC25A13	ORPHA:247598
HP:0012024	Hypergalactosemia	6514	SLC2A2	OMIM:227810
HP:0012024	Hypergalactosemia	9652	SKIC3	OMIM:222470
HP:0012024	Hypergalactosemia	2582	GALE	OMIM:230350
HP:0012025	Abnormal circulating ornithine concentration	4942	OAT	OMIM:258870
HP:0012025	Abnormal circulating ornithine concentration	4942	OAT	ORPHA:414
HP:0012025	Abnormal circulating ornithine concentration	10166	SLC25A15	ORPHA:415
HP:0012025	Abnormal circulating ornithine concentration	10166	SLC25A15	OMIM:238970
HP:0012025	Abnormal circulating ornithine concentration	10157	AASS	ORPHA:2203
HP:0012025	Abnormal circulating ornithine concentration	763	CA5A	OMIM:615751
HP:0012025	Abnormal circulating ornithine concentration	5832	ALDH18A1	OMIM:219150
HP:0012026	Hyperornithinemia	4942	OAT	OMIM:258870
HP:0012026	Hyperornithinemia	4942	OAT	ORPHA:414
HP:0012026	Hyperornithinemia	10166	SLC25A15	ORPHA:415
HP:0012026	Hyperornithinemia	10166	SLC25A15	OMIM:238970
HP:0012027	Laryngeal edema	7512	XPNPEP2	ORPHA:100057
HP:0012027	Laryngeal edema	5340	PLG	OMIM:619360
HP:0012027	Laryngeal edema	710	SERPING1	ORPHA:100050
HP:0012027	Laryngeal edema	710	SERPING1	OMIM:106100
HP:0012027	Laryngeal edema	64711	HS3ST6	OMIM:619367
HP:0012027	Laryngeal edema	2050	EPHB4	ORPHA:90186
HP:0012028	Hepatocellular adenoma	3767	KCNJ11	ORPHA:552
HP:0012028	Hepatocellular adenoma	8462	KLF11	ORPHA:552
HP:0012028	Hepatocellular adenoma	2645	GCK	ORPHA:552
HP:0012028	Hepatocellular adenoma	26060	APPL1	ORPHA:552
HP:0012028	Hepatocellular adenoma	640	BLK	ORPHA:552
HP:0012028	Hepatocellular adenoma	1056	CEL	ORPHA:552
HP:0012028	Hepatocellular adenoma	4760	NEUROD1	ORPHA:552
HP:0012028	Hepatocellular adenoma	3651	PDX1	ORPHA:552
HP:0012028	Hepatocellular adenoma	6833	ABCC8	ORPHA:552
HP:0012028	Hepatocellular adenoma	5078	PAX4	ORPHA:552
HP:0012028	Hepatocellular adenoma	3172	HNF4A	ORPHA:552
HP:0012028	Hepatocellular adenoma	6927	HNF1A	ORPHA:552
HP:0012028	Hepatocellular adenoma	6927	HNF1A	OMIM:142330
HP:0012028	Hepatocellular adenoma	3630	INS	ORPHA:552
HP:0012028	Hepatocellular adenoma	2778	GNAS	ORPHA:562
HP:0012028	Hepatocellular adenoma	5257	PHKB	ORPHA:79240
HP:0012028	Hepatocellular adenoma	2542	SLC37A4	ORPHA:79259
HP:0012028	Hepatocellular adenoma	5256	PHKA2	ORPHA:264580
HP:0012028	Hepatocellular adenoma	5261	PHKG2	ORPHA:264580
HP:0012029	Abnormal urine hormone level	79798	ARMC5	ORPHA:189427
HP:0012029	Abnormal urine hormone level	79798	ARMC5	OMIM:615954
HP:0012029	Abnormal urine hormone level	2778	GNAS	ORPHA:189427
HP:0012029	Abnormal urine hormone level	5566	PRKACA	ORPHA:189439
HP:0012029	Abnormal urine hormone level	8622	PDE8B	ORPHA:189439
HP:0012029	Abnormal urine hormone level	5573	PRKAR1A	ORPHA:189439
HP:0012029	Abnormal urine hormone level	5573	PRKAR1A	OMIM:610489
HP:0012029	Abnormal urine hormone level	5573	PRKAR1A	ORPHA:1501
HP:0012029	Abnormal urine hormone level	50940	PDE11A	ORPHA:189439
HP:0012029	Abnormal urine hormone level	84196	USP48	ORPHA:96253
HP:0012029	Abnormal urine hormone level	7157	TP53	ORPHA:96253
HP:0012029	Abnormal urine hormone level	7157	TP53	ORPHA:1501
HP:0012029	Abnormal urine hormone level	9101	USP8	ORPHA:96253
HP:0012029	Abnormal urine hormone level	64072	CDH23	ORPHA:96253
HP:0012029	Abnormal urine hormone level	2908	NR3C1	ORPHA:96253
HP:0012029	Abnormal urine hormone level	2908	NR3C1	ORPHA:786
HP:0012029	Abnormal urine hormone level	673	BRAF	ORPHA:96253
HP:0012029	Abnormal urine hormone level	546	ATRX	ORPHA:96253
HP:0012029	Abnormal urine hormone level	1027	CDKN1B	ORPHA:276152
HP:0012029	Abnormal urine hormone level	84133	ZNRF3	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1499	CTNNB1	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1029	CDKN2A	ORPHA:1501
HP:0012029	Abnormal urine hormone level	7015	TERT	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1586	CYP17A1	ORPHA:90793
HP:0012029	Abnormal urine hormone level	1584	CYP11B1	ORPHA:90795
HP:0032460	Decreased phosphoribosylpyrophosphate synthetase level	5631	PRPS1	OMIM:311070
HP:0032464	Ureteral hypoplasia	9928	KIF14	OMIM:616258
HP:0032464	Ureteral hypoplasia	79796	ALG9	ORPHA:79328
HP:0032464	Ureteral hypoplasia	23556	PIGN	OMIM:614080
HP:0032465	Bladder trabeculation	23556	PIGN	OMIM:614080
HP:0032465	Bladder trabeculation	9860	LRIG2	OMIM:615112
HP:0032466	Aplasia of the olfactory bulb	9786	KIAA0586	OMIM:616546
HP:0032466	Aplasia of the olfactory bulb	2260	FGFR1	OMIM:147950
HP:0032466	Aplasia of the olfactory bulb	22858	CILK1	OMIM:612651
HP:0032466	Aplasia of the olfactory bulb	10371	SEMA3A	OMIM:614897
HP:0032466	Aplasia of the olfactory bulb	2065	ERBB3	OMIM:243180
HP:0032466	Aplasia of the olfactory bulb	57688	ZSWIM6	OMIM:603671
HP:0032466	Aplasia of the olfactory bulb	60675	PROK2	OMIM:610628
HP:0032466	Aplasia of the olfactory bulb	128674	PROKR2	OMIM:244200
HP:0012030	Increased urinary cortisol level	79798	ARMC5	ORPHA:189427
HP:0012030	Increased urinary cortisol level	79798	ARMC5	OMIM:615954
HP:0012030	Increased urinary cortisol level	2778	GNAS	ORPHA:189427
HP:0012030	Increased urinary cortisol level	5566	PRKACA	ORPHA:189439
HP:0012030	Increased urinary cortisol level	8622	PDE8B	ORPHA:189439
HP:0012030	Increased urinary cortisol level	5573	PRKAR1A	ORPHA:189439
HP:0012030	Increased urinary cortisol level	5573	PRKAR1A	OMIM:610489
HP:0012030	Increased urinary cortisol level	5573	PRKAR1A	ORPHA:1501
HP:0012030	Increased urinary cortisol level	50940	PDE11A	ORPHA:189439
HP:0012030	Increased urinary cortisol level	84196	USP48	ORPHA:96253
HP:0012030	Increased urinary cortisol level	7157	TP53	ORPHA:96253
HP:0012030	Increased urinary cortisol level	7157	TP53	ORPHA:1501
HP:0012030	Increased urinary cortisol level	9101	USP8	ORPHA:96253
HP:0012030	Increased urinary cortisol level	64072	CDH23	ORPHA:96253
HP:0012030	Increased urinary cortisol level	2908	NR3C1	ORPHA:96253
HP:0012030	Increased urinary cortisol level	2908	NR3C1	ORPHA:786
HP:0012030	Increased urinary cortisol level	673	BRAF	ORPHA:96253
HP:0012030	Increased urinary cortisol level	546	ATRX	ORPHA:96253
HP:0012030	Increased urinary cortisol level	1027	CDKN1B	ORPHA:276152
HP:0012030	Increased urinary cortisol level	84133	ZNRF3	ORPHA:1501
HP:0012030	Increased urinary cortisol level	1499	CTNNB1	ORPHA:1501
HP:0012030	Increased urinary cortisol level	1029	CDKN2A	ORPHA:1501
HP:0012030	Increased urinary cortisol level	7015	TERT	ORPHA:1501
HP:0012031	Lipomatous tumor	4558	MT-TF	ORPHA:551
HP:0012031	Lipomatous tumor	4567	MT-TL1	ORPHA:551
HP:0012031	Lipomatous tumor	4549	MT-RNR1	ORPHA:551
HP:0012031	Lipomatous tumor	4574	MT-TS1	ORPHA:551
HP:0012031	Lipomatous tumor	4575	MT-TS2	ORPHA:551
HP:0012031	Lipomatous tumor	4571	MT-TP	ORPHA:551
HP:0012031	Lipomatous tumor	4572	MT-TQ	ORPHA:551
HP:0012031	Lipomatous tumor	4540	MT-ND5	ORPHA:551
HP:0012031	Lipomatous tumor	4566	MT-TK	ORPHA:551
HP:0012031	Lipomatous tumor	4566	MT-TK	ORPHA:1349
HP:0012031	Lipomatous tumor	4564	MT-TH	ORPHA:551
HP:0012031	Lipomatous tumor	5290	PIK3CA	ORPHA:276280
HP:0012031	Lipomatous tumor	4221	MEN1	ORPHA:652
HP:0012031	Lipomatous tumor	1027	CDKN1B	ORPHA:652
HP:0012031	Lipomatous tumor	1026	CDKN1A	ORPHA:652
HP:0012031	Lipomatous tumor	1030	CDKN2B	ORPHA:652
HP:0012031	Lipomatous tumor	1031	CDKN2C	ORPHA:652
HP:0012031	Lipomatous tumor	55154	MSTO1	OMIM:617675
HP:0012031	Lipomatous tumor	161742	SPRED1	OMIM:611431
HP:0012031	Lipomatous tumor	161742	SPRED1	ORPHA:137605
HP:0012031	Lipomatous tumor	9927	MFN2	ORPHA:2398
HP:0012031	Lipomatous tumor	2260	FGFR1	ORPHA:2396
HP:0012031	Lipomatous tumor	3845	KRAS	ORPHA:2396
HP:0012031	Lipomatous tumor	324	APC	OMIM:175100
HP:0012031	Lipomatous tumor	57216	VANGL2	OMIM:182940
HP:0012031	Lipomatous tumor	6347	CCL2	OMIM:182940
HP:0012031	Lipomatous tumor	81839	VANGL1	OMIM:182940
HP:0012031	Lipomatous tumor	6862	TBXT	OMIM:182940
HP:0012031	Lipomatous tumor	80199	FUZ	OMIM:182940
HP:0012031	Lipomatous tumor	201163	FLCN	ORPHA:122
HP:0012031	Lipomatous tumor	201163	FLCN	OMIM:135150
HP:0012031	Lipomatous tumor	284252	KCTD1	OMIM:181270
HP:0012031	Lipomatous tumor	1175	AP2S1	OMIM:600740
HP:0012031	Lipomatous tumor	207	AKT1	OMIM:176920
HP:0012031	Lipomatous tumor	2767	GNA11	OMIM:145981
HP:0012031	Lipomatous tumor	5167	ENPP1	ORPHA:758
HP:0012031	Lipomatous tumor	368	ABCC6	ORPHA:758
HP:0012031	Lipomatous tumor	23592	LEMD3	ORPHA:1879
HP:0012031	Lipomatous tumor	5728	PTEN	OMIM:158350
HP:0012031	Lipomatous tumor	5728	PTEN	ORPHA:2969
HP:0012031	Lipomatous tumor	5728	PTEN	ORPHA:79076
HP:0012031	Lipomatous tumor	657	BMPR1A	ORPHA:79076
HP:0012031	Lipomatous tumor	8092	ALX1	ORPHA:306542
HP:0012031	Lipomatous tumor	257	ALX3	OMIM:136760
HP:0012031	Lipomatous tumor	10483	SEC23B	ORPHA:201
HP:0012031	Lipomatous tumor	6390	SDHB	ORPHA:201
HP:0012031	Lipomatous tumor	6392	SDHD	ORPHA:201
HP:0012031	Lipomatous tumor	6391	SDHC	ORPHA:201
HP:0012031	Lipomatous tumor	205717	USF3	ORPHA:201
HP:0012031	Lipomatous tumor	100144748	KLLN	ORPHA:201
HP:0012031	Lipomatous tumor	6872	TAF1	ORPHA:480907
HP:0012031	Lipomatous tumor	79577	CDC73	ORPHA:143
HP:0012031	Lipomatous tumor	79577	CDC73	ORPHA:99880
HP:0012031	Lipomatous tumor	6134	RPL10	ORPHA:435938
HP:0012031	Lipomatous tumor	57688	ZSWIM6	OMIM:603671
HP:0012032	Lipoma	257	ALX3	OMIM:136760
HP:0012032	Lipoma	5290	PIK3CA	OMIM:612918
HP:0012032	Lipoma	5290	PIK3CA	ORPHA:201
HP:0012032	Lipoma	10483	SEC23B	ORPHA:201
HP:0012032	Lipoma	5728	PTEN	ORPHA:201
HP:0012032	Lipoma	5728	PTEN	ORPHA:109
HP:0012032	Lipoma	5728	PTEN	ORPHA:744
HP:0012032	Lipoma	6390	SDHB	ORPHA:201
HP:0012032	Lipoma	6392	SDHD	ORPHA:201
HP:0012032	Lipoma	6391	SDHC	ORPHA:201
HP:0012032	Lipoma	207	AKT1	ORPHA:201
HP:0012032	Lipoma	207	AKT1	OMIM:176920
HP:0012032	Lipoma	207	AKT1	ORPHA:744
HP:0012032	Lipoma	205717	USF3	ORPHA:201
HP:0012032	Lipoma	100144748	KLLN	ORPHA:201
HP:0012032	Lipoma	6872	TAF1	ORPHA:480907
HP:0012032	Lipoma	79577	CDC73	ORPHA:143
HP:0012032	Lipoma	79577	CDC73	ORPHA:99880
HP:0012032	Lipoma	2260	FGFR1	OMIM:613001
HP:0012032	Lipoma	9927	MFN2	OMIM:151800
HP:0012032	Lipoma	324	APC	ORPHA:247806
HP:0012032	Lipoma	324	APC	ORPHA:79665
HP:0012032	Lipoma	55154	MSTO1	ORPHA:502423
HP:0012032	Lipoma	57216	VANGL2	OMIM:182940
HP:0012032	Lipoma	6347	CCL2	OMIM:182940
HP:0012032	Lipoma	6862	TBXT	OMIM:182940
HP:0012032	Lipoma	80199	FUZ	OMIM:182940
HP:0012032	Lipoma	57688	ZSWIM6	OMIM:603671
HP:0012032	Lipoma	81839	VANGL1	OMIM:600145
HP:0012032	Lipoma	6134	RPL10	ORPHA:435938
HP:0012033	Sacral lipoma	81839	VANGL1	OMIM:600145
HP:0012033	Sacral lipoma	6134	RPL10	ORPHA:435938
HP:0012035	Steatocystoma multiplex	3872	KRT17	OMIM:184500
HP:0012035	Steatocystoma multiplex	3872	KRT17	OMIM:167210
HP:0012035	Steatocystoma multiplex	3872	KRT17	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3872	KRT17	ORPHA:841
HP:0012035	Steatocystoma multiplex	3854	KRT6B	OMIM:615728
HP:0012035	Steatocystoma multiplex	3854	KRT6B	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3868	KRT16	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3853	KRT6A	ORPHA:2309
HP:0012036	Sternocleidomastoid amyotrophy	7555	CNBP	OMIM:602668
HP:0012036	Sternocleidomastoid amyotrophy	4703	NEB	ORPHA:399103
HP:0012036	Sternocleidomastoid amyotrophy	4703	NEB	OMIM:256030
HP:0012036	Sternocleidomastoid amyotrophy	6261	RYR1	ORPHA:98905
HP:0012036	Sternocleidomastoid amyotrophy	4556	MT-TE	ORPHA:2596
HP:0012037	Pectoralis amyotrophy	825	CAPN3	ORPHA:267
HP:0012038	Corneal guttata	6935	ZEB1	OMIM:609141
HP:0012038	Corneal guttata	6935	ZEB1	OMIM:613270
HP:0012038	Corneal guttata	123624	AGBL1	OMIM:615523
HP:0012038	Corneal guttata	3769	KCNJ13	OMIM:193230
HP:0012038	Corneal guttata	83959	SLC4A11	OMIM:613268
HP:0012038	Corneal guttata	6925	TCF4	OMIM:613267
HP:0012038	Corneal guttata	1296	COL8A2	OMIM:136800
HP:0012039	Descemet Membrane Folds	1296	COL8A2	OMIM:136800
HP:0032471	Focal polymicrogyria	22858	CILK1	OMIM:612651
HP:0032471	Focal polymicrogyria	4953	ODC1	OMIM:619075
HP:0032471	Focal polymicrogyria	10524	KAT5	OMIM:619103
HP:0032471	Focal polymicrogyria	203068	TUBB	OMIM:615771
HP:0032476	Abnormal circulating vitamin B6 level	7276	TTR	OMIM:115430
HP:0032476	Abnormal circulating vitamin B6 level	8659	ALDH4A1	ORPHA:79101
HP:0032479	Preimplantation lethality	353238	PADI6	OMIM:617234
HP:0012040	Corneal stromal edema	83959	SLC4A11	ORPHA:293603
HP:0012040	Corneal stromal edema	6935	ZEB1	OMIM:613270
HP:0012040	Corneal stromal edema	6935	ZEB1	ORPHA:98973
HP:0012040	Corneal stromal edema	5159	PDGFRB	OMIM:601812
HP:0012040	Corneal stromal edema	7010	TEK	OMIM:617272
HP:0012040	Corneal stromal edema	1296	COL8A2	OMIM:136800
HP:0012040	Corneal stromal edema	1296	COL8A2	ORPHA:98973
HP:0012040	Corneal stromal edema	6925	TCF4	OMIM:613267
HP:0012040	Corneal stromal edema	30813	VSX1	ORPHA:98973
HP:0012040	Corneal stromal edema	58495	OVOL2	ORPHA:98973
HP:0012040	Corneal stromal edema	79977	GRHL2	ORPHA:98973
HP:0012040	Corneal stromal edema	7045	TGFBI	ORPHA:98964
HP:0012041	Decreased fertility in males	374407	DNAJB13	OMIM:617091
HP:0012041	Decreased fertility in males	374407	DNAJB13	ORPHA:244
HP:0012041	Decreased fertility in males	139212	DNAAF6	OMIM:300991
HP:0012041	Decreased fertility in males	139212	DNAAF6	ORPHA:244
HP:0012041	Decreased fertility in males	1497	CTNS	OMIM:219800
HP:0012041	Decreased fertility in males	125150	ZSWIM7	OMIM:619831
HP:0012041	Decreased fertility in males	84074	QRICH2	OMIM:618341
HP:0012041	Decreased fertility in males	10734	STAG3	OMIM:619672
HP:0012041	Decreased fertility in males	285498	RNF212	OMIM:619673
HP:0012041	Decreased fertility in males	124404	SEPTIN12	OMIM:614822
HP:0012041	Decreased fertility in males	11055	ZPBP	OMIM:619799
HP:0012041	Decreased fertility in males	144132	DNHD1	OMIM:619712
HP:0012041	Decreased fertility in males	83894	TTC29	OMIM:618745
HP:0012041	Decreased fertility in males	8556	CDC14A	OMIM:608653
HP:0012041	Decreased fertility in males	7258	TSPY1	ORPHA:1646
HP:0012041	Decreased fertility in males	57055	DAZ2	ORPHA:1646
HP:0012041	Decreased fertility in males	57055	DAZ2	OMIM:415000
HP:0012041	Decreased fertility in males	57135	DAZ4	ORPHA:1646
HP:0012041	Decreased fertility in males	8287	USP9Y	ORPHA:1646
HP:0012041	Decreased fertility in males	8287	USP9Y	OMIM:415000
HP:0012041	Decreased fertility in males	5940	RBMY1A1	ORPHA:1646
HP:0012041	Decreased fertility in males	5940	RBMY1A1	OMIM:415000
HP:0012041	Decreased fertility in males	57054	DAZ3	ORPHA:1646
HP:0012041	Decreased fertility in males	57054	DAZ3	OMIM:415000
HP:0012041	Decreased fertility in males	8653	DDX3Y	ORPHA:1646
HP:0012041	Decreased fertility in males	8653	DDX3Y	OMIM:415000
HP:0012041	Decreased fertility in males	1617	DAZ1	ORPHA:1646
HP:0012041	Decreased fertility in males	1617	DAZ1	OMIM:415000
HP:0012041	Decreased fertility in males	286464	CFAP47	OMIM:301059
HP:0012041	Decreased fertility in males	317719	KLHL10	OMIM:615081
HP:0012041	Decreased fertility in males	83449	PMFBP1	OMIM:618112
HP:0012041	Decreased fertility in males	83449	PMFBP1	ORPHA:529970
HP:0012041	Decreased fertility in males	317761	C14orf39	OMIM:619202
HP:0012041	Decreased fertility in males	79925	SPEF2	OMIM:618751
HP:0012041	Decreased fertility in males	79925	SPEF2	ORPHA:244
HP:0012041	Decreased fertility in males	402381	SOHLH1	OMIM:618115
HP:0012041	Decreased fertility in males	201134	CEP112	OMIM:619044
HP:0012041	Decreased fertility in males	122402	TDRD9	OMIM:618110
HP:0012041	Decreased fertility in males	367	AR	ORPHA:90797
HP:0012041	Decreased fertility in males	367	AR	ORPHA:99429
HP:0012041	Decreased fertility in males	146845	CFAP52	OMIM:619607
HP:0012041	Decreased fertility in males	140801	RPL10L	OMIM:619689
HP:0012041	Decreased fertility in males	56155	TEX14	OMIM:617707
HP:0012041	Decreased fertility in males	254528	MEIOB	OMIM:617706
HP:0012041	Decreased fertility in males	2592	GALT	ORPHA:79239
HP:0012041	Decreased fertility in males	2212	FCGR2A	OMIM:219700
HP:0012041	Decreased fertility in males	7040	TGFB1	OMIM:219700
HP:0012041	Decreased fertility in males	1080	CFTR	OMIM:219700
HP:0012041	Decreased fertility in males	1080	CFTR	OMIM:277180
HP:0012041	Decreased fertility in males	1080	CFTR	ORPHA:48
HP:0012041	Decreased fertility in males	10388	SYCP2	OMIM:258150
HP:0012041	Decreased fertility in males	286151	FBXO43	OMIM:619696
HP:0012041	Decreased fertility in males	8632	DNAH17	OMIM:618643
HP:0012041	Decreased fertility in males	140732	SUN5	ORPHA:529970
HP:0012041	Decreased fertility in males	140732	SUN5	OMIM:617187
HP:0012041	Decreased fertility in males	54970	TTC12	OMIM:618801
HP:0012041	Decreased fertility in males	54970	TTC12	ORPHA:244
HP:0012041	Decreased fertility in males	3973	LHCGR	ORPHA:3000
HP:0012041	Decreased fertility in males	80726	IQCN	OMIM:620170
HP:0012041	Decreased fertility in males	161497	STRC	ORPHA:94064
HP:0012041	Decreased fertility in males	161497	STRC	OMIM:611102
HP:0012041	Decreased fertility in males	161497	STRC	OMIM:612997
HP:0012041	Decreased fertility in males	117155	CATSPER2	ORPHA:94064
HP:0012041	Decreased fertility in males	117155	CATSPER2	OMIM:611102
HP:0012041	Decreased fertility in males	117155	CATSPER2	OMIM:612997
HP:0012041	Decreased fertility in males	6691	SPINK2	OMIM:618091
HP:0012041	Decreased fertility in males	6795	AURKC	OMIM:243060
HP:0012041	Decreased fertility in males	22873	DZIP1	OMIM:619102
HP:0012041	Decreased fertility in males	80705	TSGA10	OMIM:617961
HP:0012041	Decreased fertility in males	56154	TEX15	OMIM:617960
HP:0012041	Decreased fertility in males	10149	ADGRG2	OMIM:300985
HP:0012041	Decreased fertility in males	10149	ADGRG2	ORPHA:48
HP:0012041	Decreased fertility in males	269	AMHR2	OMIM:261550
HP:0012041	Decreased fertility in males	268	AMH	OMIM:261550
HP:0012041	Decreased fertility in males	80173	IFT74	OMIM:619585
HP:0012041	Decreased fertility in males	122481	AK7	OMIM:617965
HP:0012041	Decreased fertility in males	6662	SOX9	ORPHA:251510
HP:0012041	Decreased fertility in males	6845	VAMP7	ORPHA:251510
HP:0012041	Decreased fertility in males	51741	WWOX	ORPHA:251510
HP:0012041	Decreased fertility in males	4214	MAP3K1	ORPHA:251510
HP:0012041	Decreased fertility in males	2516	NR5A1	ORPHA:251510
HP:0012041	Decreased fertility in males	7490	WT1	ORPHA:251510
HP:0012041	Decreased fertility in males	58524	DMRT3	ORPHA:251510
HP:0012041	Decreased fertility in males	57647	DHX37	ORPHA:251510
HP:0012041	Decreased fertility in males	6736	SRY	ORPHA:251510
HP:0012041	Decreased fertility in males	6736	SRY	ORPHA:1772
HP:0012041	Decreased fertility in males	23414	ZFPM2	ORPHA:251510
HP:0012041	Decreased fertility in males	190	NR0B1	ORPHA:251510
HP:0012041	Decreased fertility in males	2626	GATA4	ORPHA:251510
HP:0012041	Decreased fertility in males	130951	M1AP	OMIM:619108
HP:0012041	Decreased fertility in males	9082	XKRY	OMIM:415000
HP:0012041	Decreased fertility in males	8284	KDM5D	OMIM:415000
HP:0012041	Decreased fertility in males	442862	PRY2	OMIM:415000
HP:0012041	Decreased fertility in males	9081	PRY	OMIM:415000
HP:0012041	Decreased fertility in males	140032	RPS4Y2	OMIM:415000
HP:0012041	Decreased fertility in males	9426	CDY2A	OMIM:415000
HP:0012041	Decreased fertility in males	9083	BPY2	OMIM:415000
HP:0012041	Decreased fertility in males	86614	HSFY1	OMIM:415000
HP:0012041	Decreased fertility in males	9084	VCY	OMIM:415000
HP:0012041	Decreased fertility in males	9085	CDY1	OMIM:415000
HP:0012041	Decreased fertility in males	57728	WDR19	OMIM:619867
HP:0012041	Decreased fertility in males	1588	CYP19A1	ORPHA:91
HP:0012041	Decreased fertility in males	339829	CCDC39	OMIM:613807
HP:0012041	Decreased fertility in males	339829	CCDC39	ORPHA:244
HP:0012041	Decreased fertility in males	27019	DNAI1	OMIM:244400
HP:0012041	Decreased fertility in males	27019	DNAI1	ORPHA:244
HP:0012041	Decreased fertility in males	55012	PPP2R3C	OMIM:618420
HP:0012041	Decreased fertility in males	255101	CFAP65	OMIM:618664
HP:0012041	Decreased fertility in males	25981	DNAH1	OMIM:617576
HP:0012041	Decreased fertility in males	25981	DNAH1	ORPHA:244
HP:0012041	Decreased fertility in males	199223	TTC21A	OMIM:618429
HP:0012041	Decreased fertility in males	55329	MNS1	OMIM:618948
HP:0012041	Decreased fertility in males	89869	PLCZ1	OMIM:617214
HP:0012041	Decreased fertility in males	64446	DNAI2	OMIM:612444
HP:0012041	Decreased fertility in males	64446	DNAI2	ORPHA:244
HP:0012041	Decreased fertility in males	196385	DNAH10	OMIM:619515
HP:0012041	Decreased fertility in males	54456	MOV10L1	OMIM:619878
HP:0012041	Decreased fertility in males	8468	FKBP6	OMIM:620103
HP:0012041	Decreased fertility in males	92749	DRC1	OMIM:620222
HP:0012041	Decreased fertility in males	92749	DRC1	ORPHA:244
HP:0012041	Decreased fertility in males	4438	MSH4	OMIM:108420
HP:0012041	Decreased fertility in males	56159	TEX11	OMIM:309120
HP:0012041	Decreased fertility in males	84071	ARMC2	OMIM:618433
HP:0012041	Decreased fertility in males	144406	CFAP251	OMIM:618152
HP:0012041	Decreased fertility in males	401024	FSIP2	OMIM:618153
HP:0012041	Decreased fertility in males	118491	CFAP70	OMIM:618670
HP:0012041	Decreased fertility in males	154197	PNLDC1	OMIM:619528
HP:0012041	Decreased fertility in males	84660	CCDC62	OMIM:619803
HP:0012041	Decreased fertility in males	84225	ZMYND15	OMIM:615842
HP:0012041	Decreased fertility in males	54919	DNAAF5	OMIM:614874
HP:0012041	Decreased fertility in males	54919	DNAAF5	ORPHA:244
HP:0012041	Decreased fertility in males	151254	C2CD6	OMIM:619805
HP:0012041	Decreased fertility in males	145645	TERB2	OMIM:619645
HP:0012041	Decreased fertility in males	283847	TERB1	OMIM:619646
HP:0012041	Decreased fertility in males	85452	CFAP74	OMIM:620197
HP:0012041	Decreased fertility in males	157855	KCNU1	OMIM:620196
HP:0012041	Decreased fertility in males	146754	DNAH2	OMIM:619094
HP:0012041	Decreased fertility in males	91057	CCDC34	OMIM:620084
HP:0012041	Decreased fertility in males	1769	DNAH8	OMIM:619095
HP:0012041	Decreased fertility in males	55779	CFAP44	OMIM:617593
HP:0012041	Decreased fertility in males	80217	CFAP43	OMIM:617592
HP:0012041	Decreased fertility in males	284382	ACTL9	OMIM:619258
HP:0012041	Decreased fertility in males	375307	CATIP	OMIM:619379
HP:0012041	Decreased fertility in males	4439	MSH5	OMIM:619937
HP:0012041	Decreased fertility in males	9075	CLDN2	OMIM:301060
HP:0012041	Decreased fertility in males	283417	DPY19L2	OMIM:613958
HP:0012041	Decreased fertility in males	50511	SYCP3	OMIM:270960
HP:0012041	Decreased fertility in males	9247	GCM2	ORPHA:2239
HP:0012041	Decreased fertility in males	115948	ODAD3	ORPHA:244
HP:0012041	Decreased fertility in males	54768	HYDIN	ORPHA:244
HP:0012041	Decreased fertility in males	352909	DNAAF3	ORPHA:244
HP:0012041	Decreased fertility in males	27148	STK36	ORPHA:244
HP:0012041	Decreased fertility in males	51314	NME8	ORPHA:244
HP:0012041	Decreased fertility in males	152110	NEK10	ORPHA:244
HP:0012041	Decreased fertility in males	8481	OFD1	ORPHA:244
HP:0012041	Decreased fertility in males	2302	FOXJ1	ORPHA:244
HP:0012041	Decreased fertility in males	221421	RSPH9	ORPHA:244
HP:0012041	Decreased fertility in males	85478	CCDC65	ORPHA:244
HP:0012041	Decreased fertility in males	55036	CCDC40	ORPHA:244
HP:0012041	Decreased fertility in males	51364	ZMYND10	ORPHA:244
HP:0012041	Decreased fertility in males	6674	SPAG1	ORPHA:244
HP:0012041	Decreased fertility in males	83544	DNAL1	ORPHA:244
HP:0012041	Decreased fertility in males	89765	RSPH1	ORPHA:244
HP:0012041	Decreased fertility in males	83538	ODAD4	ORPHA:244
HP:0012041	Decreased fertility in males	200373	CFAP221	ORPHA:244
HP:0012041	Decreased fertility in males	55172	DNAAF2	ORPHA:244
HP:0012041	Decreased fertility in males	161582	DNAAF4	ORPHA:244
HP:0012041	Decreased fertility in males	2622	GAS8	ORPHA:244
HP:0012041	Decreased fertility in males	23639	DNAAF11	ORPHA:244
HP:0012041	Decreased fertility in males	23639	DNAAF11	OMIM:614935
HP:0012041	Decreased fertility in males	345895	RSPH4A	ORPHA:244
HP:0012041	Decreased fertility in males	6103	RPGR	ORPHA:244
HP:0012041	Decreased fertility in males	388389	CCDC103	ORPHA:244
HP:0012041	Decreased fertility in males	93233	ODAD1	ORPHA:244
HP:0012041	Decreased fertility in males	55130	ODAD2	ORPHA:244
HP:0012041	Decreased fertility in males	1767	DNAH5	ORPHA:244
HP:0012041	Decreased fertility in males	83861	RSPH3	ORPHA:244
HP:0012041	Decreased fertility in males	345643	MCIDAS	ORPHA:244
HP:0012041	Decreased fertility in males	56683	CFAP298	ORPHA:244
HP:0012041	Decreased fertility in males	10309	CCNO	ORPHA:244
HP:0012041	Decreased fertility in males	115399	LRRC56	ORPHA:244
HP:0012041	Decreased fertility in males	123872	DNAAF1	ORPHA:244
HP:0012041	Decreased fertility in males	85016	CFAP300	ORPHA:244
HP:0012041	Decreased fertility in males	8701	DNAH11	ORPHA:244
HP:0012041	Decreased fertility in males	1770	DNAH9	ORPHA:244
HP:0012041	Decreased fertility in males	246176	GAS2L2	ORPHA:244
HP:0012041	Decreased fertility in males	200162	SPAG17	OMIM:619380
HP:0012041	Decreased fertility in males	641	BLM	ORPHA:125
HP:0012041	Decreased fertility in males	93953	GCNA	OMIM:301077
HP:0012041	Decreased fertility in males	116369	SLC26A8	OMIM:606766
HP:0012041	Decreased fertility in males	159686	CFAP58	OMIM:619144
HP:0012041	Decreased fertility in males	199720	GGN	OMIM:619826
HP:0012041	Decreased fertility in males	676	BRDT	OMIM:617644
HP:0012041	Decreased fertility in males	93426	SYCE1	OMIM:616950
HP:0012041	Decreased fertility in males	158401	SHOC1	OMIM:619949
HP:0012041	Decreased fertility in males	5161	PDHA2	OMIM:619828
HP:0012041	Decreased fertility in males	117144	CATSPER1	OMIM:612997
HP:0012041	Decreased fertility in males	83893	SPATA16	OMIM:102530
HP:0012041	Decreased fertility in males	5604	MAP2K1	OMIM:163950
HP:0012041	Decreased fertility in males	5781	PTPN11	OMIM:163950
HP:0012041	Decreased fertility in males	673	BRAF	OMIM:163950
HP:0012041	Decreased fertility in males	64072	CDH23	ORPHA:91347
HP:0012041	Decreased fertility in males	64072	CDH23	ORPHA:2965
HP:0012041	Decreased fertility in males	1528	CYB5A	ORPHA:90796
HP:0012041	Decreased fertility in males	1586	CYP17A1	ORPHA:90796
HP:0012041	Decreased fertility in males	4221	MEN1	ORPHA:2965
HP:0012041	Decreased fertility in males	9049	AIP	ORPHA:2965
HP:0012041	Decreased fertility in males	7840	ALMS1	ORPHA:64
HP:0012041	Decreased fertility in males	672	BRCA1	ORPHA:84
HP:0012041	Decreased fertility in males	10459	MAD2L2	ORPHA:84
HP:0012041	Decreased fertility in males	7516	XRCC2	ORPHA:84
HP:0012041	Decreased fertility in males	29089	UBE2T	ORPHA:84
HP:0012041	Decreased fertility in males	675	BRCA2	ORPHA:84
HP:0012041	Decreased fertility in males	55120	FANCL	ORPHA:84
HP:0012041	Decreased fertility in males	2177	FANCD2	ORPHA:84
HP:0012041	Decreased fertility in males	2175	FANCA	ORPHA:84
HP:0012041	Decreased fertility in males	2187	FANCB	ORPHA:84
HP:0012041	Decreased fertility in males	2176	FANCC	ORPHA:84
HP:0012041	Decreased fertility in males	2178	FANCE	ORPHA:84
HP:0012041	Decreased fertility in males	2188	FANCF	ORPHA:84
HP:0012041	Decreased fertility in males	2189	FANCG	ORPHA:84
HP:0012041	Decreased fertility in males	5888	RAD51	ORPHA:84
HP:0012041	Decreased fertility in males	5889	RAD51C	ORPHA:84
HP:0012041	Decreased fertility in males	55159	RFWD3	ORPHA:84
HP:0012041	Decreased fertility in males	83990	BRIP1	ORPHA:84
HP:0012041	Decreased fertility in males	57697	FANCM	ORPHA:84
HP:0012041	Decreased fertility in males	79728	PALB2	ORPHA:84
HP:0012041	Decreased fertility in males	84464	SLX4	ORPHA:84
HP:0012041	Decreased fertility in males	2072	ERCC4	ORPHA:84
HP:0012041	Decreased fertility in males	55215	FANCI	ORPHA:84
HP:0012041	Decreased fertility in males	3284	HSD3B2	ORPHA:90791
HP:0012041	Decreased fertility in males	5573	PRKAR1A	ORPHA:1359
HP:0012041	Decreased fertility in males	50940	PDE11A	ORPHA:1359
HP:0012042	Aspirin-induced asthma	30009	TBX21	OMIM:208550
HP:0012042	Aspirin-induced asthma	5732	PTGER2	OMIM:208550
HP:0012043	Pendular nystagmus	9181	ARHGEF2	OMIM:617523
HP:0012043	Pendular nystagmus	4041	LRP5	OMIM:601813
HP:0012043	Pendular nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0012043	Pendular nystagmus	103	ADAR	ORPHA:225154
HP:0012043	Pendular nystagmus	220202	ATOH7	OMIM:221900
HP:0012043	Pendular nystagmus	22926	ATF6	ORPHA:49382
HP:0012043	Pendular nystagmus	5146	PDE6C	ORPHA:49382
HP:0012043	Pendular nystagmus	6103	RPGR	ORPHA:49382
HP:0012043	Pendular nystagmus	5149	PDE6H	ORPHA:49382
HP:0012043	Pendular nystagmus	2780	GNAT2	ORPHA:49382
HP:0012043	Pendular nystagmus	1261	CNGA3	ORPHA:49382
HP:0012043	Pendular nystagmus	1261	CNGA3	OMIM:216900
HP:0012043	Pendular nystagmus	54714	CNGB3	ORPHA:49382
HP:0012043	Pendular nystagmus	611	OPN1SW	ORPHA:88629
HP:0012043	Pendular nystagmus	5917	RARS1	OMIM:616140
HP:0012043	Pendular nystagmus	5956	OPN1LW	OMIM:303700
HP:0012043	Pendular nystagmus	2652	OPN1MW	OMIM:303700
HP:0012043	Pendular nystagmus	5828	PEX2	OMIM:614866
HP:0012043	Pendular nystagmus	9725	TMEM63A	OMIM:618688
HP:0012043	Pendular nystagmus	26504	CNNM4	OMIM:217080
HP:0012043	Pendular nystagmus	8398	PLA2G6	ORPHA:35069
HP:0012043	Pendular nystagmus	23746	AIPL1	OMIM:604393
HP:0012043	Pendular nystagmus	90167	FRMD7	OMIM:310700
HP:0012043	Pendular nystagmus	1737	DLAT	OMIM:245348
HP:0012043	Pendular nystagmus	23636	NUP62	OMIM:271930
HP:0012043	Pendular nystagmus	79718	TBL1XR1	OMIM:602342
HP:0012043	Pendular nystagmus	79718	TBL1XR1	ORPHA:487825
HP:0012043	Pendular nystagmus	5354	PLP1	ORPHA:280210
HP:0012043	Pendular nystagmus	22978	NT5C2	ORPHA:320396
HP:0012043	Pendular nystagmus	388552	BLOC1S3	OMIM:614077
HP:0012043	Pendular nystagmus	54681	P4HTM	OMIM:618493
HP:0012043	Pendular nystagmus	55714	TENM3	OMIM:615145
HP:0012043	Pendular nystagmus	833	CARS1	OMIM:618891
HP:0012043	Pendular nystagmus	6392	SDHD	OMIM:619167
HP:0012043	Pendular nystagmus	54664	TMEM106B	OMIM:617964
HP:0012043	Pendular nystagmus	2670	GFAP	OMIM:203450
HP:0012043	Pendular nystagmus	3149	HMGB3	OMIM:300915
HP:0012043	Pendular nystagmus	23268	DNMBP	OMIM:618415
HP:0012043	Pendular nystagmus	57096	RPGRIP1	OMIM:613826
HP:0012043	Pendular nystagmus	1406	CRX	OMIM:613829
HP:0012043	Pendular nystagmus	79583	TMEM231	ORPHA:2752
HP:0012043	Pendular nystagmus	773	CACNA1A	ORPHA:569
HP:0012043	Pendular nystagmus	112476	PRRT2	ORPHA:569
HP:0012043	Pendular nystagmus	6323	SCN1A	ORPHA:569
HP:0012043	Pendular nystagmus	477	ATP1A2	ORPHA:569
HP:0012043	Pendular nystagmus	8218	CLTCL1	ORPHA:453510
HP:0012044	Seesaw nystagmus	79583	TMEM231	ORPHA:2752
HP:0012044	Seesaw nystagmus	773	CACNA1A	ORPHA:569
HP:0012044	Seesaw nystagmus	112476	PRRT2	ORPHA:569
HP:0012044	Seesaw nystagmus	6323	SCN1A	ORPHA:569
HP:0012044	Seesaw nystagmus	477	ATP1A2	ORPHA:569
HP:0012044	Seesaw nystagmus	8218	CLTCL1	ORPHA:453510
HP:0012045	Retinal flecks	8842	PROM1	OMIM:603786
HP:0012045	Retinal flecks	7439	BEST1	OMIM:611809
HP:0012045	Retinal flecks	7439	BEST1	OMIM:613194
HP:0012045	Retinal flecks	5959	RDH5	OMIM:136880
HP:0012045	Retinal flecks	6010	RHO	OMIM:136880
HP:0012045	Retinal flecks	5961	PRPH2	OMIM:136880
HP:0012045	Retinal flecks	6017	RLBP1	OMIM:136880
HP:0012045	Retinal flecks	22999	RIMS1	OMIM:603649
HP:0012045	Retinal flecks	23503	ZFYVE26	ORPHA:100996
HP:0012045	Retinal flecks	5322	PLA2G5	OMIM:228980
HP:0012046	Areflexia of upper limbs	22943	DKK1	ORPHA:268882
HP:0012046	Areflexia of upper limbs	6548	SLC9A1	OMIM:616291
HP:0012046	Areflexia of upper limbs	7504	XK	OMIM:300842
HP:0012046	Areflexia of upper limbs	81846	SBF2	ORPHA:99956
HP:0012046	Areflexia of upper limbs	3508	IGHMBP2	OMIM:616155
HP:0012046	Areflexia of upper limbs	182	JAG1	OMIM:619574
HP:0012046	Areflexia of upper limbs	81570	CLPB	OMIM:616271
HP:0012047	Hemeralopia	26160	IFT172	OMIM:619471
HP:0012047	Hemeralopia	84131	CEP78	OMIM:617236
HP:0012047	Hemeralopia	10002	NR2E3	OMIM:268100
HP:0012047	Hemeralopia	3000	GUCY2D	OMIM:601777
HP:0012047	Hemeralopia	1261	CNGA3	OMIM:216900
HP:0012047	Hemeralopia	2916	GRM6	OMIM:257270
HP:0012047	Hemeralopia	7287	TULP1	OMIM:613843
HP:0012047	Hemeralopia	60506	NYX	OMIM:310500
HP:0012047	Hemeralopia	6314	ATXN7	ORPHA:94147
HP:0012048	Oromandibular dystonia	1822	ATN1	ORPHA:101
HP:0012048	Oromandibular dystonia	1678	TIMM8A	ORPHA:52368
HP:0012048	Oromandibular dystonia	80347	COASY	ORPHA:397725
HP:0012048	Oromandibular dystonia	80347	COASY	OMIM:615643
HP:0012048	Oromandibular dystonia	2521	FUS	ORPHA:300605
HP:0012048	Oromandibular dystonia	80208	SPG11	ORPHA:300605
HP:0012048	Oromandibular dystonia	10280	SIGMAR1	ORPHA:300605
HP:0012048	Oromandibular dystonia	10558	SPTLC1	ORPHA:300605
HP:0012048	Oromandibular dystonia	57679	ALS2	ORPHA:300605
HP:0012048	Oromandibular dystonia	9757	KMT2B	ORPHA:589618
HP:0012048	Oromandibular dystonia	9757	KMT2B	OMIM:617284
HP:0012048	Oromandibular dystonia	64601	VPS16	OMIM:619291
HP:0012048	Oromandibular dystonia	80025	PANK2	ORPHA:216873
HP:0012048	Oromandibular dystonia	63982	ANO3	OMIM:615034
HP:0012048	Oromandibular dystonia	63982	ANO3	ORPHA:420485
HP:0012048	Oromandibular dystonia	83636	C19orf12	OMIM:614298
HP:0012048	Oromandibular dystonia	23516	SLC39A14	OMIM:617013
HP:0012048	Oromandibular dystonia	23516	SLC39A14	ORPHA:521406
HP:0012048	Oromandibular dystonia	55145	THAP1	OMIM:602629
HP:0012048	Oromandibular dystonia	1293	COL6A3	OMIM:616411
HP:0012048	Oromandibular dystonia	1293	COL6A3	ORPHA:464440
HP:0012048	Oromandibular dystonia	6531	SLC6A3	OMIM:613135
HP:0012048	Oromandibular dystonia	23230	VPS13A	ORPHA:2388
HP:0012048	Oromandibular dystonia	1861	TOR1A	OMIM:128100
HP:0012049	Laryngeal dystonia	2512	FTL	OMIM:606159
HP:0012049	Laryngeal dystonia	2774	GNAL	OMIM:615073
HP:0012049	Laryngeal dystonia	2774	GNAL	ORPHA:329466
HP:0012049	Laryngeal dystonia	8575	PRKRA	OMIM:612067
HP:0012049	Laryngeal dystonia	10382	TUBB4A	ORPHA:98805
HP:0012049	Laryngeal dystonia	55145	THAP1	ORPHA:98806
HP:0012049	Laryngeal dystonia	55145	THAP1	OMIM:602629
HP:0012049	Laryngeal dystonia	55823	VPS11	OMIM:619637
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:94089
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:79443
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:79444
HP:0012049	Laryngeal dystonia	8675	STX16	ORPHA:94089
HP:0012049	Laryngeal dystonia	9757	KMT2B	OMIM:617284
HP:0012049	Laryngeal dystonia	518	ATP5MC3	OMIM:619681
HP:0012049	Laryngeal dystonia	79734	KCTD17	OMIM:616398
HP:0012049	Laryngeal dystonia	1293	COL6A3	OMIM:616411
HP:0012049	Laryngeal dystonia	1293	COL6A3	ORPHA:464440
HP:0012049	Laryngeal dystonia	23230	VPS13A	ORPHA:2388
HP:0032480	Beta-aminoisobutyric aciduria	64902	AGXT2	OMIM:210100
HP:0032480	Beta-aminoisobutyric aciduria	200205	IBA57	OMIM:615330
HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	7252	TSHB	ORPHA:90674
HP:0031685	Abnormal stool composition	222546	RFX6	OMIM:615710
HP:0031685	Abnormal stool composition	672	BRCA1	ORPHA:70567
HP:0031685	Abnormal stool composition	675	BRCA2	ORPHA:70567
HP:0031685	Abnormal stool composition	5774	PTPN3	ORPHA:70567
HP:0031685	Abnormal stool composition	80270	HSD3B7	OMIM:607765
HP:0031685	Abnormal stool composition	4645	MYO5B	OMIM:619868
HP:0031685	Abnormal stool composition	9420	CYP7B1	OMIM:613812
HP:0031685	Abnormal stool composition	51473	DCDC2	OMIM:617394
HP:0031685	Abnormal stool composition	6550	SLC9A3	OMIM:616868
HP:0031685	Abnormal stool composition	4072	EPCAM	ORPHA:92050
HP:0031685	Abnormal stool composition	105371045	PERCC1	ORPHA:92050
HP:0031685	Abnormal stool composition	7389	UROD	ORPHA:95159
HP:0031685	Abnormal stool composition	7390	UROS	OMIM:263700
HP:0031685	Abnormal stool composition	7390	UROS	ORPHA:79277
HP:0031685	Abnormal stool composition	2623	GATA1	ORPHA:79277
HP:0031685	Abnormal stool composition	210	ALAD	ORPHA:100924
HP:0031685	Abnormal stool composition	1371	CPOX	OMIM:121300
HP:0031685	Abnormal stool composition	6555	SLC10A2	OMIM:613291
HP:0031685	Abnormal stool composition	50619	DEF6	OMIM:619573
HP:0031685	Abnormal stool composition	5498	PPOX	OMIM:176200
HP:0031685	Abnormal stool composition	3077	HFE	OMIM:176200
HP:0031685	Abnormal stool composition	1811	SLC26A3	OMIM:214700
HP:0032484	Elevated fecal sodium	6550	SLC9A3	OMIM:616868
HP:0032485	Abnormal fecal osmolality	4072	EPCAM	ORPHA:92050
HP:0032485	Abnormal fecal osmolality	105371045	PERCC1	ORPHA:92050
HP:0032486	Elevated fecal osmolality	4072	EPCAM	ORPHA:92050
HP:0032486	Elevated fecal osmolality	105371045	PERCC1	ORPHA:92050
HP:0012050	Anasarca	83483	PLVAP	OMIM:618183
HP:0012050	Anasarca	5373	PMM2	ORPHA:79318
HP:0012050	Anasarca	1798	DPAGT1	ORPHA:86309
HP:0012050	Anasarca	197131	UBR1	OMIM:243800
HP:0012050	Anasarca	51422	PRKAG2	OMIM:261740
HP:0012050	Anasarca	50619	DEF6	OMIM:619573
HP:0012050	Anasarca	950	SCARB2	OMIM:254900
HP:0012050	Anasarca	10056	FARSB	OMIM:613658
HP:0012050	Anasarca	5428	POLG	OMIM:203700
HP:0012051	Reactive hypoglycemia	2746	GLUD1	ORPHA:35878
HP:0012051	Reactive hypoglycemia	7351	UCP2	ORPHA:276556
HP:0012051	Reactive hypoglycemia	5122	PCSK1	OMIM:600955
HP:0012051	Reactive hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0012051	Reactive hypoglycemia	4221	MEN1	ORPHA:97279
HP:0012051	Reactive hypoglycemia	7528	YY1	ORPHA:97279
HP:0012051	Reactive hypoglycemia	229	ALDOB	ORPHA:469
HP:0012052	Low serum calcitriol	4041	LRP5	ORPHA:2788
HP:0012052	Low serum calcitriol	1576	CYP3A4	OMIM:619073
HP:0012052	Low serum calcitriol	1594	CYP27B1	OMIM:264700
HP:0012052	Low serum calcitriol	1594	CYP27B1	ORPHA:289157
HP:0012052	Low serum calcitriol	1758	DMP1	ORPHA:289176
HP:0012052	Low serum calcitriol	5167	ENPP1	ORPHA:289176
HP:0012052	Low serum calcitriol	120227	CYP2R1	ORPHA:289157
HP:0012053	Decreased circulating calcifediol concentration	1576	CYP3A4	OMIM:619073
HP:0012053	Decreased circulating calcifediol concentration	120227	CYP2R1	OMIM:600081
HP:0012053	Decreased circulating calcifediol concentration	23600	AMACR	OMIM:214950
HP:0012053	Decreased circulating calcifediol concentration	1594	CYP27B1	OMIM:264700
HP:0012054	Choroidal melanoma	8314	BAP1	ORPHA:39044
HP:0012054	Choroidal melanoma	57105	CYSLTR2	ORPHA:39044
HP:0012054	Choroidal melanoma	2776	GNAQ	ORPHA:39044
HP:0012054	Choroidal melanoma	2767	GNA11	ORPHA:39044
HP:0012054	Choroidal melanoma	23451	SF3B1	ORPHA:39044
HP:0012055	Ciliary body melanoma	8314	BAP1	ORPHA:39044
HP:0012055	Ciliary body melanoma	57105	CYSLTR2	ORPHA:39044
HP:0012055	Ciliary body melanoma	2776	GNAQ	ORPHA:39044
HP:0012055	Ciliary body melanoma	2767	GNA11	ORPHA:39044
HP:0012055	Ciliary body melanoma	23451	SF3B1	ORPHA:39044
HP:0012056	Cutaneous melanoma	1308	COL17A1	ORPHA:79406
HP:0012056	Cutaneous melanoma	4312	MMP1	ORPHA:79408
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79408
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79409
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79410
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79411
HP:0012056	Cutaneous melanoma	4893	NRAS	OMIM:137550
HP:0012056	Cutaneous melanoma	4893	NRAS	ORPHA:626
HP:0012056	Cutaneous melanoma	3265	HRAS	OMIM:137550
HP:0012056	Cutaneous melanoma	3265	HRAS	ORPHA:2874
HP:0012056	Cutaneous melanoma	7852	CXCR4	ORPHA:51636
HP:0012056	Cutaneous melanoma	6794	STK11	OMIM:155600
HP:0012056	Cutaneous melanoma	673	BRAF	OMIM:155600
HP:0012056	Cutaneous melanoma	1029	CDKN2A	OMIM:155755
HP:0012056	Cutaneous melanoma	1029	CDKN2A	OMIM:155601
HP:0012056	Cutaneous melanoma	4286	MITF	OMIM:614456
HP:0012056	Cutaneous melanoma	5429	POLH	OMIM:278750
HP:0012056	Cutaneous melanoma	8314	BAP1	OMIM:614327
HP:0012056	Cutaneous melanoma	2071	ERCC3	OMIM:610651
HP:0012056	Cutaneous melanoma	4157	MC1R	ORPHA:626
HP:0012056	Cutaneous melanoma	4157	MC1R	ORPHA:79432
HP:0012056	Cutaneous melanoma	1019	CDK4	OMIM:609048
HP:0012056	Cutaneous melanoma	7486	WRN	ORPHA:902
HP:0012056	Cutaneous melanoma	4948	OCA2	ORPHA:79432
HP:0012056	Cutaneous melanoma	7508	XPC	OMIM:278720
HP:0012059	Lentigo maligna melanoma	673	BRAF	OMIM:613706
HP:0009002	Loss of truncal subcutaneous adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0009002	Loss of truncal subcutaneous adipose tissue	4000	LMNA	OMIM:151660
HP:0009002	Loss of truncal subcutaneous adipose tissue	84823	LMNB2	OMIM:608709
HP:0009003	Increased subcutaneous truncal adipose tissue	11128	POLR3A	ORPHA:3455
HP:0009004	Hypoplasia of the musculature	9939	RBM8A	OMIM:274000
HP:0009004	Hypoplasia of the musculature	2201	FBN2	OMIM:121050
HP:0009004	Hypoplasia of the musculature	5376	PMP22	ORPHA:90658
HP:0009004	Hypoplasia of the musculature	859	CAV3	ORPHA:488650
HP:0009004	Hypoplasia of the musculature	79796	ALG9	ORPHA:79328
HP:0009004	Hypoplasia of the musculature	78989	COLEC11	OMIM:265050
HP:0009004	Hypoplasia of the musculature	2316	FLNA	OMIM:305620
HP:0009004	Hypoplasia of the musculature	2316	FLNA	ORPHA:1826
HP:0009004	Hypoplasia of the musculature	57190	SELENON	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	58	ACTA1	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	4633	MYL2	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	3679	ITGA7	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	7169	TPM2	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	9200	HACD1	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	7170	TPM3	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	51776	MAP3K20	ORPHA:2020
HP:0009004	Hypoplasia of the musculature	3043	HBB	ORPHA:231226
HP:0009004	Hypoplasia of the musculature	3043	HBB	ORPHA:231214
HP:0009004	Hypoplasia of the musculature	55640	FLVCR2	OMIM:225790
HP:0009004	Hypoplasia of the musculature	23545	ATP6V0A2	OMIM:278250
HP:0009004	Hypoplasia of the musculature	6885	MAP3K7	ORPHA:1826
HP:0009004	Hypoplasia of the musculature	389827	MYMK	OMIM:254940
HP:0009004	Hypoplasia of the musculature	2733	GLE1	OMIM:253310
HP:0009004	Hypoplasia of the musculature	57167	SALL4	OMIM:607323
HP:0009005	Weakness of the intrinsic hand muscles	55958	KLHL9	ORPHA:399081
HP:0009005	Weakness of the intrinsic hand muscles	3094	HINT1	ORPHA:324442
HP:0009005	Weakness of the intrinsic hand muscles	10280	SIGMAR1	OMIM:614373
HP:0009005	Weakness of the intrinsic hand muscles	8291	DYSF	ORPHA:178400
HP:0009005	Weakness of the intrinsic hand muscles	7415	VCP	ORPHA:329478
HP:0009005	Weakness of the intrinsic hand muscles	7415	VCP	OMIM:616687
HP:0009005	Weakness of the intrinsic hand muscles	81545	FBXO38	OMIM:615575
HP:0009005	Weakness of the intrinsic hand muscles	57863	CADM3	OMIM:619519
HP:0009005	Weakness of the intrinsic hand muscles	4703	NEB	ORPHA:399103
HP:0009005	Weakness of the intrinsic hand muscles	859	CAV3	ORPHA:488650
HP:0009005	Weakness of the intrinsic hand muscles	11155	LDB3	ORPHA:98912
HP:0009005	Weakness of the intrinsic hand muscles	6329	SCN4A	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	1134	CHRNA1	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	4038	LRP4	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	1305	COL13A1	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	1140	CHRNB1	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	1144	CHRND	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	1145	CHRNE	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	4593	MUSK	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	5913	RAPSN	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	375790	AGRN	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	221264	AK9	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	285489	DOK7	ORPHA:98913
HP:0009005	Weakness of the intrinsic hand muscles	6786	STIM1	OMIM:160565
HP:0012060	Acral lentiginous melanoma	7486	WRN	ORPHA:902
HP:0012061	Urinary excretion of sialylated oligosaccharides	4758	NEU1	ORPHA:812
HP:0012061	Urinary excretion of sialylated oligosaccharides	4758	NEU1	OMIM:256550
HP:0012062	Bone cyst	54209	TREM2	OMIM:618193
HP:0012062	Bone cyst	54209	TREM2	ORPHA:2770
HP:0012062	Bone cyst	10483	SEC23B	ORPHA:201
HP:0012062	Bone cyst	5728	PTEN	ORPHA:201
HP:0012062	Bone cyst	6390	SDHB	ORPHA:201
HP:0012062	Bone cyst	6392	SDHD	ORPHA:201
HP:0012062	Bone cyst	6391	SDHC	ORPHA:201
HP:0012062	Bone cyst	207	AKT1	ORPHA:201
HP:0012062	Bone cyst	205717	USF3	ORPHA:201
HP:0012062	Bone cyst	5290	PIK3CA	ORPHA:201
HP:0012062	Bone cyst	100144748	KLLN	ORPHA:201
HP:0012062	Bone cyst	6452	SH3BP2	ORPHA:184
HP:0012062	Bone cyst	7421	VDR	ORPHA:93160
HP:0012062	Bone cyst	3123	HLA-DRB1	OMIM:181000
HP:0012062	Bone cyst	3123	HLA-DRB1	ORPHA:797
HP:0012062	Bone cyst	4854	NOTCH3	ORPHA:2591
HP:0012062	Bone cyst	5159	PDGFRB	ORPHA:2591
HP:0012062	Bone cyst	26137	ZBTB20	ORPHA:3042
HP:0012062	Bone cyst	4763	NF1	ORPHA:363700
HP:0012062	Bone cyst	7305	TYROBP	OMIM:221770
HP:0012062	Bone cyst	7305	TYROBP	ORPHA:2770
HP:0012062	Bone cyst	10216	PRG4	ORPHA:2848
HP:0012062	Bone cyst	2260	FGFR1	ORPHA:2396
HP:0012062	Bone cyst	3845	KRAS	ORPHA:2396
HP:0012062	Bone cyst	5468	PPARG	ORPHA:528
HP:0012062	Bone cyst	10555	AGPAT2	ORPHA:528
HP:0012062	Bone cyst	284119	CAVIN1	ORPHA:528
HP:0012062	Bone cyst	26580	BSCL2	ORPHA:528
HP:0012062	Bone cyst	2353	FOS	ORPHA:528
HP:0012062	Bone cyst	857	CAV1	ORPHA:528
HP:0012062	Bone cyst	56244	BTNL2	ORPHA:797
HP:0012062	Bone cyst	2778	GNAS	ORPHA:562
HP:0012062	Bone cyst	567	B2M	ORPHA:314652
HP:0012063	Aneurysmal bone cyst	2778	GNAS	ORPHA:562
HP:0012065	Multiple bony cystic lesions	567	B2M	ORPHA:314652
HP:0012066	Increased urinary disaccharide excretion	4126	MANBA	OMIM:248510
HP:0012067	Glycopeptiduria	4668	NAGA	OMIM:609241
HP:0012067	Glycopeptiduria	4668	NAGA	OMIM:609242
HP:0012067	Glycopeptiduria	4758	NEU1	ORPHA:812
HP:0012067	Glycopeptiduria	4758	NEU1	OMIM:256550
HP:0012067	Glycopeptiduria	2517	FUCA1	OMIM:230000
HP:0012067	Glycopeptiduria	175	AGA	OMIM:208400
HP:0012067	Glycopeptiduria	175	AGA	ORPHA:93
HP:0012068	Aspartylglucosaminuria	175	AGA	OMIM:208400
HP:0012068	Aspartylglucosaminuria	175	AGA	ORPHA:93
HP:0012069	Keratan sulfate excretion in urine	2720	GLB1	OMIM:253010
HP:0012069	Keratan sulfate excretion in urine	2588	GALNS	OMIM:253000
HP:0012069	Keratan sulfate excretion in urine	1280	COL2A1	ORPHA:485
HP:0012069	Keratan sulfate excretion in urine	55768	NGLY1	OMIM:615273
HP:0032495	Abnormal terminal:vellus ratio	1001	CDH3	OMIM:601553
HP:0032497	Reduced terminal:vellus ratio	1001	CDH3	OMIM:601553
HP:0032499	Giant neutrophil granules	1130	LYST	OMIM:214500
HP:0001324	Muscle weakness	343641	TGM6	OMIM:613908
HP:0001324	Muscle weakness	343641	TGM6	ORPHA:276193
HP:0001324	Muscle weakness	9373	PLAA	ORPHA:521426
HP:0001324	Muscle weakness	9373	PLAA	OMIM:617527
HP:0001324	Muscle weakness	26191	PTPN22	ORPHA:397
HP:0001324	Muscle weakness	3106	HLA-B	ORPHA:397
HP:0001324	Muscle weakness	3106	HLA-B	ORPHA:3287
HP:0001324	Muscle weakness	3123	HLA-DRB1	ORPHA:397
HP:0001324	Muscle weakness	3123	HLA-DRB1	ORPHA:220393
HP:0001324	Muscle weakness	3123	HLA-DRB1	OMIM:126200
HP:0001324	Muscle weakness	8974	P4HA2	ORPHA:397
HP:0001324	Muscle weakness	6584	SLC22A5	ORPHA:158
HP:0001324	Muscle weakness	6584	SLC22A5	OMIM:212140
HP:0001324	Muscle weakness	23019	CNOT1	OMIM:618500
HP:0001324	Muscle weakness	51099	ABHD5	OMIM:275630
HP:0001324	Muscle weakness	3190	HNRNPK	ORPHA:453504
HP:0001324	Muscle weakness	3190	HNRNPK	ORPHA:352665
HP:0001324	Muscle weakness	4538	MT-ND4	ORPHA:255210
HP:0001324	Muscle weakness	4538	MT-ND4	ORPHA:550
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:255210
HP:0001324	Muscle weakness	4567	MT-TL1	OMIM:545000
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:225
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:550
HP:0001324	Muscle weakness	4578	MT-TW	ORPHA:255210
HP:0001324	Muscle weakness	4578	MT-TW	ORPHA:550
HP:0001324	Muscle weakness	4577	MT-TV	ORPHA:255210
HP:0001324	Muscle weakness	4508	MT-ATP6	ORPHA:255210
HP:0001324	Muscle weakness	4540	MT-ND5	ORPHA:255210
HP:0001324	Muscle weakness	4540	MT-ND5	ORPHA:550
HP:0001324	Muscle weakness	4541	MT-ND6	ORPHA:255210
HP:0001324	Muscle weakness	4541	MT-ND6	ORPHA:550
HP:0001324	Muscle weakness	4566	MT-TK	ORPHA:255210
HP:0001324	Muscle weakness	4566	MT-TK	OMIM:545000
HP:0001324	Muscle weakness	4566	MT-TK	ORPHA:225
HP:0001324	Muscle weakness	4566	MT-TK	ORPHA:1349
HP:0001324	Muscle weakness	79577	CDC73	ORPHA:143
HP:0001324	Muscle weakness	79577	CDC73	ORPHA:99880
HP:0001324	Muscle weakness	10528	NOP56	OMIM:614153
HP:0001324	Muscle weakness	120227	CYP2R1	OMIM:600081
HP:0001324	Muscle weakness	120227	CYP2R1	ORPHA:289157
HP:0001324	Muscle weakness	1161	ERCC8	OMIM:216400
HP:0001324	Muscle weakness	23400	ATP13A2	ORPHA:314632
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309271
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309263
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309256
HP:0001324	Muscle weakness	6772	STAT1	OMIM:614162
HP:0001324	Muscle weakness	23321	TRIM2	OMIM:615490
HP:0001324	Muscle weakness	113189	CHST14	ORPHA:2953
HP:0001324	Muscle weakness	29940	DSE	ORPHA:2953
HP:0001324	Muscle weakness	2200	FBN1	ORPHA:2833
HP:0001324	Muscle weakness	2200	FBN1	OMIM:184900
HP:0001324	Muscle weakness	3423	IDS	ORPHA:217085
HP:0001324	Muscle weakness	9581	PREPL	OMIM:616224
HP:0001324	Muscle weakness	79184	BRCC3	ORPHA:280679
HP:0001324	Muscle weakness	2697	GJA1	ORPHA:2710
HP:0001324	Muscle weakness	84133	ZNRF3	ORPHA:1501
HP:0001324	Muscle weakness	7157	TP53	ORPHA:1501
HP:0001324	Muscle weakness	7157	TP53	ORPHA:96253
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:1501
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:520
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:1359
HP:0001324	Muscle weakness	1499	CTNNB1	ORPHA:1501
HP:0001324	Muscle weakness	1029	CDKN2A	ORPHA:1501
HP:0001324	Muscle weakness	7015	TERT	ORPHA:1501
HP:0001324	Muscle weakness	1277	COL1A1	ORPHA:287
HP:0001324	Muscle weakness	1289	COL5A1	ORPHA:287
HP:0001324	Muscle weakness	1290	COL5A2	ORPHA:287
HP:0001324	Muscle weakness	4524	MTHFR	OMIM:236250
HP:0001324	Muscle weakness	4558	MT-TF	OMIM:545000
HP:0001324	Muscle weakness	4558	MT-TF	ORPHA:550
HP:0001324	Muscle weakness	4571	MT-TP	OMIM:545000
HP:0001324	Muscle weakness	4565	MT-TI	OMIM:545000
HP:0001324	Muscle weakness	7386	UQCRFS1	OMIM:618775
HP:0001324	Muscle weakness	5442	POLRMT	OMIM:619743
HP:0001324	Muscle weakness	790955	UQCC3	OMIM:616111
HP:0001324	Muscle weakness	246243	RNASEH1	OMIM:616479
HP:0001324	Muscle weakness	54840	APTX	OMIM:208920
HP:0001324	Muscle weakness	79731	NARS2	OMIM:616239
HP:0001324	Muscle weakness	79731	NARS2	ORPHA:79134
HP:0001324	Muscle weakness	788	SLC25A20	ORPHA:159
HP:0001324	Muscle weakness	788	SLC25A20	OMIM:212138
HP:0001324	Muscle weakness	5373	PMM2	OMIM:212065
HP:0001324	Muscle weakness	55621	TRMT1	OMIM:618302
HP:0001324	Muscle weakness	142680	SLC34A3	OMIM:241530
HP:0001324	Muscle weakness	54902	TTC19	OMIM:615157
HP:0001324	Muscle weakness	92609	TIMM50	OMIM:617698
HP:0001324	Muscle weakness	92609	TIMM50	ORPHA:505216
HP:0001324	Muscle weakness	1180	CLCN1	OMIM:255700
HP:0001324	Muscle weakness	1180	CLCN1	OMIM:160800
HP:0001324	Muscle weakness	4669	NAGLU	OMIM:616491
HP:0001324	Muscle weakness	50485	SMARCAL1	ORPHA:1830
HP:0001324	Muscle weakness	56947	MFF	ORPHA:485421
HP:0001324	Muscle weakness	56947	MFF	OMIM:617086
HP:0001324	Muscle weakness	487	ATP2A1	OMIM:601003
HP:0001324	Muscle weakness	5213	PFKM	ORPHA:371
HP:0001324	Muscle weakness	5213	PFKM	OMIM:232800
HP:0001324	Muscle weakness	1758	DMP1	ORPHA:289176
HP:0001324	Muscle weakness	5167	ENPP1	ORPHA:289176
HP:0001324	Muscle weakness	654	BMP6	ORPHA:465508
HP:0001324	Muscle weakness	3077	HFE	ORPHA:465508
HP:0001324	Muscle weakness	2303	FOXC2	ORPHA:33001
HP:0001324	Muscle weakness	3339	HSPG2	OMIM:255800
HP:0001324	Muscle weakness	3339	HSPG2	ORPHA:800
HP:0001324	Muscle weakness	5837	PYGM	ORPHA:368
HP:0001324	Muscle weakness	5837	PYGM	OMIM:232600
HP:0001324	Muscle weakness	27247	NFU1	OMIM:605711
HP:0001324	Muscle weakness	10533	ATG7	OMIM:619422
HP:0001324	Muscle weakness	51117	COQ4	OMIM:616276
HP:0001324	Muscle weakness	10801	SEPTIN9	ORPHA:2901
HP:0001324	Muscle weakness	10801	SEPTIN9	OMIM:162100
HP:0001324	Muscle weakness	5081	PAX7	OMIM:618578
HP:0001324	Muscle weakness	4001	LMNB1	ORPHA:99027
HP:0001324	Muscle weakness	1188	CLCNKB	ORPHA:358
HP:0001324	Muscle weakness	1188	CLCNKB	ORPHA:89938
HP:0001324	Muscle weakness	6559	SLC12A3	ORPHA:358
HP:0001324	Muscle weakness	6559	SLC12A3	OMIM:263800
HP:0001324	Muscle weakness	2260	FGFR1	ORPHA:478
HP:0001324	Muscle weakness	10371	SEMA3A	ORPHA:478
HP:0001324	Muscle weakness	81848	SPRY4	ORPHA:478
HP:0001324	Muscle weakness	23767	FLRT3	ORPHA:478
HP:0001324	Muscle weakness	128674	PROKR2	ORPHA:478
HP:0001324	Muscle weakness	79625	NDNF	ORPHA:478
HP:0001324	Muscle weakness	2253	FGF8	ORPHA:478
HP:0001324	Muscle weakness	389549	FEZF1	ORPHA:478
HP:0001324	Muscle weakness	1630	DCC	ORPHA:478
HP:0001324	Muscle weakness	3730	ANOS1	ORPHA:478
HP:0001324	Muscle weakness	54756	IL17RD	ORPHA:478
HP:0001324	Muscle weakness	285025	CCDC141	ORPHA:478
HP:0001324	Muscle weakness	60675	PROK2	ORPHA:478
HP:0001324	Muscle weakness	55636	CHD7	ORPHA:478
HP:0001324	Muscle weakness	1848	DUSP6	ORPHA:478
HP:0001324	Muscle weakness	6870	TACR3	ORPHA:478
HP:0001324	Muscle weakness	55717	WDR11	ORPHA:478
HP:0001324	Muscle weakness	9394	HS6ST1	ORPHA:478
HP:0001324	Muscle weakness	8820	HESX1	ORPHA:478
HP:0001324	Muscle weakness	8822	FGF17	ORPHA:478
HP:0001324	Muscle weakness	64132	XYLT2	OMIM:605822
HP:0001324	Muscle weakness	2074	ERCC6	OMIM:133540
HP:0001324	Muscle weakness	4572	MT-TQ	ORPHA:550
HP:0001324	Muscle weakness	4512	MT-CO1	ORPHA:550
HP:0001324	Muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0001324	Muscle weakness	4513	MT-CO2	ORPHA:550
HP:0001324	Muscle weakness	4514	MT-CO3	ORPHA:550
HP:0001324	Muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0001324	Muscle weakness	4574	MT-TS1	ORPHA:550
HP:0001324	Muscle weakness	4575	MT-TS2	ORPHA:550
HP:0001324	Muscle weakness	4564	MT-TH	ORPHA:550
HP:0001324	Muscle weakness	2671	GFER	ORPHA:330054
HP:0001324	Muscle weakness	10102	TSFM	OMIM:610505
HP:0001324	Muscle weakness	221496	LEMD2	OMIM:619322
HP:0001324	Muscle weakness	729920	CRPPA	OMIM:616052
HP:0001324	Muscle weakness	729920	CRPPA	ORPHA:899
HP:0001324	Muscle weakness	137682	NDUFAF6	OMIM:618239
HP:0001324	Muscle weakness	137682	NDUFAF6	ORPHA:3337
HP:0001324	Muscle weakness	1760	DMPK	OMIM:160900
HP:0001324	Muscle weakness	148789	B3GALNT2	ORPHA:899
HP:0001324	Muscle weakness	29954	POMT2	ORPHA:899
HP:0001324	Muscle weakness	9215	LARGE1	ORPHA:899
HP:0001324	Muscle weakness	1282	COL4A1	ORPHA:899
HP:0001324	Muscle weakness	10329	RXYLT1	ORPHA:899
HP:0001324	Muscle weakness	11041	B4GAT1	ORPHA:899
HP:0001324	Muscle weakness	1297	COL9A1	ORPHA:166002
HP:0001324	Muscle weakness	1298	COL9A2	ORPHA:166002
HP:0001324	Muscle weakness	1299	COL9A3	ORPHA:166002
HP:0001324	Muscle weakness	6904	TBCD	ORPHA:496641
HP:0001324	Muscle weakness	6904	TBCD	OMIM:617193
HP:0001324	Muscle weakness	84196	USP48	ORPHA:96253
HP:0001324	Muscle weakness	9101	USP8	ORPHA:96253
HP:0001324	Muscle weakness	64072	CDH23	ORPHA:96253
HP:0001324	Muscle weakness	2908	NR3C1	ORPHA:96253
HP:0001324	Muscle weakness	673	BRAF	ORPHA:96253
HP:0001324	Muscle weakness	546	ATRX	ORPHA:96253
HP:0001324	Muscle weakness	4621	MYH3	OMIM:193700
HP:0001324	Muscle weakness	56915	EXOSC5	OMIM:619576
HP:0001324	Muscle weakness	513	ATP5F1D	OMIM:618120
HP:0001324	Muscle weakness	55750	AGK	OMIM:212350
HP:0001324	Muscle weakness	2632	GBE1	ORPHA:206583
HP:0001324	Muscle weakness	2632	GBE1	OMIM:232500
HP:0001324	Muscle weakness	212	ALAS2	ORPHA:75563
HP:0001324	Muscle weakness	2583	B4GALNT1	ORPHA:101006
HP:0001324	Muscle weakness	55687	TRMU	ORPHA:254864
HP:0001324	Muscle weakness	11340	EXOSC8	OMIM:616081
HP:0001324	Muscle weakness	11340	EXOSC8	ORPHA:2254
HP:0001324	Muscle weakness	37	ACADVL	OMIM:201475
HP:0001324	Muscle weakness	6424	SFRP4	OMIM:265900
HP:0001324	Muscle weakness	7504	XK	OMIM:300842
HP:0001324	Muscle weakness	23287	AGTPBP1	OMIM:618276
HP:0001324	Muscle weakness	23287	AGTPBP1	ORPHA:2254
HP:0001324	Muscle weakness	226	ALDOA	OMIM:611881
HP:0001324	Muscle weakness	226	ALDOA	ORPHA:57
HP:0001324	Muscle weakness	54800	KLHL24	OMIM:620236
HP:0001324	Muscle weakness	63899	NSUN3	OMIM:619012
HP:0001324	Muscle weakness	131118	DNAJC19	ORPHA:66634
HP:0001324	Muscle weakness	131118	DNAJC19	OMIM:610198
HP:0001324	Muscle weakness	5236	PGM1	OMIM:614921
HP:0001324	Muscle weakness	8799	PEX11B	OMIM:614920
HP:0001324	Muscle weakness	1376	CPT2	ORPHA:228302
HP:0001324	Muscle weakness	1376	CPT2	ORPHA:228305
HP:0001324	Muscle weakness	1376	CPT2	OMIM:255110
HP:0001324	Muscle weakness	22800	RRAS2	ORPHA:648
HP:0001324	Muscle weakness	867	CBL	ORPHA:648
HP:0001324	Muscle weakness	8216	LZTR1	ORPHA:648
HP:0001324	Muscle weakness	6016	RIT1	ORPHA:648
HP:0001324	Muscle weakness	6237	RRAS	ORPHA:648
HP:0001324	Muscle weakness	5894	RAF1	ORPHA:648
HP:0001324	Muscle weakness	22808	MRAS	ORPHA:648
HP:0001324	Muscle weakness	3845	KRAS	ORPHA:648
HP:0001324	Muscle weakness	200734	SPRED2	ORPHA:648
HP:0001324	Muscle weakness	4893	NRAS	ORPHA:648
HP:0001324	Muscle weakness	6654	SOS1	ORPHA:648
HP:0001324	Muscle weakness	6655	SOS2	ORPHA:648
HP:0001324	Muscle weakness	5781	PTPN11	ORPHA:648
HP:0001324	Muscle weakness	5922	RASA2	ORPHA:648
HP:0001324	Muscle weakness	4683	NBN	ORPHA:647
HP:0001324	Muscle weakness	6340	SCNN1G	ORPHA:526
HP:0001324	Muscle weakness	6338	SCNN1B	ORPHA:526
HP:0001324	Muscle weakness	6337	SCNN1A	ORPHA:526
HP:0001324	Muscle weakness	3593	IL12B	ORPHA:3287
HP:0001324	Muscle weakness	6945	MLX	ORPHA:3287
HP:0001324	Muscle weakness	4693	NDP	ORPHA:649
HP:0001324	Muscle weakness	5216	PFN1	OMIM:614808
HP:0001324	Muscle weakness	10079	ATP9A	OMIM:620242
HP:0001324	Muscle weakness	1181	CLCN2	ORPHA:404
HP:0001324	Muscle weakness	124093	CCDC78	OMIM:614807
HP:0001324	Muscle weakness	1584	CYP11B1	ORPHA:403
HP:0001324	Muscle weakness	1585	CYP11B2	ORPHA:403
HP:0001324	Muscle weakness	54936	ADPRS	OMIM:618170
HP:0001324	Muscle weakness	6774	STAT3	ORPHA:520
HP:0001324	Muscle weakness	5371	PML	ORPHA:520
HP:0001324	Muscle weakness	5914	RARA	ORPHA:520
HP:0001324	Muscle weakness	359948	IRF2BP2	ORPHA:520
HP:0001324	Muscle weakness	81608	FIP1L1	ORPHA:520
HP:0001324	Muscle weakness	4869	NPM1	ORPHA:520
HP:0001324	Muscle weakness	54880	BCOR	ORPHA:520
HP:0001324	Muscle weakness	64859	NABP1	ORPHA:520
HP:0001324	Muscle weakness	6777	STAT5B	ORPHA:520
HP:0001324	Muscle weakness	4926	NUMA1	ORPHA:520
HP:0001324	Muscle weakness	7704	ZBTB16	ORPHA:520
HP:0001324	Muscle weakness	79718	TBL1XR1	ORPHA:520
HP:0001324	Muscle weakness	899	CCNF	OMIM:619141
HP:0001324	Muscle weakness	65250	CPLANE1	ORPHA:65684
HP:0001324	Muscle weakness	57562	CEP126	ORPHA:65684
HP:0001324	Muscle weakness	5696	PSMB8	OMIM:256040
HP:0001324	Muscle weakness	5621	PRNP	ORPHA:282166
HP:0001324	Muscle weakness	51102	MECR	ORPHA:508093
HP:0001324	Muscle weakness	8838	CCN6	OMIM:208230
HP:0001324	Muscle weakness	8838	CCN6	ORPHA:1159
HP:0001324	Muscle weakness	7148	TNXB	ORPHA:230839
HP:0001324	Muscle weakness	4758	NEU1	OMIM:256550
HP:0001324	Muscle weakness	4758	NEU1	ORPHA:812
HP:0001324	Muscle weakness	5111	PCNA	OMIM:615919
HP:0001324	Muscle weakness	51816	ADA2	ORPHA:820
HP:0001324	Muscle weakness	57176	VARS2	OMIM:615917
HP:0001324	Muscle weakness	2038	EPB42	ORPHA:822
HP:0001324	Muscle weakness	6521	SLC4A1	ORPHA:822
HP:0001324	Muscle weakness	6521	SLC4A1	OMIM:179800
HP:0001324	Muscle weakness	6710	SPTB	ORPHA:822
HP:0001324	Muscle weakness	6708	SPTA1	ORPHA:822
HP:0001324	Muscle weakness	286	ANK1	ORPHA:822
HP:0001324	Muscle weakness	6840	SVIL	OMIM:619040
HP:0001324	Muscle weakness	1352	COX10	OMIM:619046
HP:0001324	Muscle weakness	9197	SLC33A1	OMIM:612539
HP:0001324	Muscle weakness	7125	TNNC2	OMIM:620161
HP:0001324	Muscle weakness	1340	COX6B1	OMIM:619051
HP:0001324	Muscle weakness	7040	TGFB1	OMIM:131300
HP:0001324	Muscle weakness	7040	TGFB1	ORPHA:1328
HP:0001324	Muscle weakness	1272	CNTN1	OMIM:612540
HP:0001324	Muscle weakness	55858	TMEM165	OMIM:614727
HP:0001324	Muscle weakness	114034	TOE1	OMIM:614969
HP:0001324	Muscle weakness	9570	GOSR2	OMIM:620166
HP:0001324	Muscle weakness	2332	FMR1	ORPHA:93256
HP:0001324	Muscle weakness	7276	TTR	OMIM:105210
HP:0001324	Muscle weakness	1339	COX6A2	OMIM:619062
HP:0001324	Muscle weakness	7274	TTPA	ORPHA:96
HP:0001324	Muscle weakness	6687	SPG7	OMIM:607259
HP:0001324	Muscle weakness	1175	AP2S1	OMIM:600740
HP:0001324	Muscle weakness	23203	PMPCA	ORPHA:1170
HP:0001324	Muscle weakness	54805	CNNM2	OMIM:613882
HP:0001324	Muscle weakness	5230	PGK1	ORPHA:713
HP:0001324	Muscle weakness	5230	PGK1	OMIM:300653
HP:0001324	Muscle weakness	374393	FAM111B	OMIM:615704
HP:0001324	Muscle weakness	113278	SLC52A3	OMIM:211530
HP:0001324	Muscle weakness	2395	FXN	ORPHA:95
HP:0001324	Muscle weakness	3475	IFRD1	ORPHA:98771
HP:0001324	Muscle weakness	7809	BSND	ORPHA:89938
HP:0001324	Muscle weakness	1187	CLCNKA	ORPHA:89938
HP:0001324	Muscle weakness	8074	FGF23	ORPHA:89937
HP:0001324	Muscle weakness	149371	EXOC8	OMIM:619076
HP:0001324	Muscle weakness	7443	VRK1	ORPHA:2254
HP:0001324	Muscle weakness	7443	VRK1	OMIM:607596
HP:0001324	Muscle weakness	91137	SLC25A46	ORPHA:2254
HP:0001324	Muscle weakness	91137	SLC25A46	OMIM:616505
HP:0001324	Muscle weakness	90624	LYRM7	OMIM:615838
HP:0001324	Muscle weakness	11128	POLR3A	OMIM:264090
HP:0001324	Muscle weakness	6609	SMPD1	OMIM:257200
HP:0001324	Muscle weakness	283209	PGM2L1	OMIM:620191
HP:0001324	Muscle weakness	23175	LPIN1	OMIM:268200
HP:0001324	Muscle weakness	23175	LPIN1	ORPHA:99845
HP:0001324	Muscle weakness	728294	D2HGDH	OMIM:600721
HP:0001324	Muscle weakness	6598	SMARCB1	ORPHA:99966
HP:0001324	Muscle weakness	3662	IRF4	ORPHA:3452
HP:0001324	Muscle weakness	7234	TRU-TCA1-1	OMIM:620198
HP:0001324	Muscle weakness	1962	EHHADH	ORPHA:3337
HP:0001324	Muscle weakness	6569	SLC34A1	ORPHA:3337
HP:0001324	Muscle weakness	5194	PEX13	OMIM:614885
HP:0001324	Muscle weakness	1374	CPT1A	OMIM:255120
HP:0001324	Muscle weakness	10133	OPTN	OMIM:613435
HP:0001324	Muscle weakness	55679	LIMS2	OMIM:616827
HP:0001324	Muscle weakness	710	SERPING1	OMIM:106100
HP:0001324	Muscle weakness	6314	ATXN7	ORPHA:94147
HP:0001324	Muscle weakness	84188	FAR1	ORPHA:447753
HP:0001324	Muscle weakness	3991	LIPE	OMIM:615980
HP:0001324	Muscle weakness	23503	ZFYVE26	ORPHA:100996
HP:0001324	Muscle weakness	51067	YARS2	OMIM:613561
HP:0001324	Muscle weakness	3897	L1CAM	ORPHA:1497
HP:0001324	Muscle weakness	284119	CAVIN1	OMIM:613327
HP:0001324	Muscle weakness	5830	PEX5	OMIM:616716
HP:0001324	Muscle weakness	270	AMPD1	OMIM:615511
HP:0001324	Muscle weakness	132	ADK	OMIM:614300
HP:0001324	Muscle weakness	6948	TCN2	OMIM:275350
HP:0001324	Muscle weakness	6775	STAT4	ORPHA:93552
HP:0001324	Muscle weakness	6696	SPP1	ORPHA:93552
HP:0001324	Muscle weakness	3654	IRAK1	ORPHA:93552
HP:0001324	Muscle weakness	10229	COQ7	OMIM:616733
HP:0001324	Muscle weakness	57505	AARS2	OMIM:615889
HP:0001324	Muscle weakness	7200	TRH	OMIM:275120
HP:0001324	Muscle weakness	6301	SARS1	OMIM:617709
HP:0001324	Muscle weakness	54822	TRPM7	OMIM:105500
HP:0001324	Muscle weakness	3767	KCNJ11	ORPHA:79134
HP:0001324	Muscle weakness	3767	KCNJ11	ORPHA:276580
HP:0001324	Muscle weakness	6833	ABCC8	ORPHA:79134
HP:0001324	Muscle weakness	6833	ABCC8	OMIM:618857
HP:0001324	Muscle weakness	50940	PDE11A	ORPHA:1359
HP:0001324	Muscle weakness	84679	SLC9A7	OMIM:301024
HP:0001324	Muscle weakness	2821	GPI	OMIM:613470
HP:0001324	Muscle weakness	79572	ATP13A3	OMIM:265400
HP:0001324	Muscle weakness	7080	NKX2-1	ORPHA:95713
HP:0001324	Muscle weakness	7849	PAX8	ORPHA:95713
HP:0001324	Muscle weakness	7849	PAX8	ORPHA:95712
HP:0001324	Muscle weakness	1482	NKX2-5	ORPHA:95713
HP:0001324	Muscle weakness	1482	NKX2-5	ORPHA:95712
HP:0001324	Muscle weakness	2304	FOXE1	ORPHA:95713
HP:0001324	Muscle weakness	7253	TSHR	ORPHA:95713
HP:0001324	Muscle weakness	5172	SLC26A4	ORPHA:95713
HP:0001324	Muscle weakness	10616	RBCK1	OMIM:615895
HP:0001324	Muscle weakness	10342	TFG	OMIM:615658
HP:0001324	Muscle weakness	27315	PGAP2	OMIM:614207
HP:0001324	Muscle weakness	51008	ASCC1	OMIM:616867
HP:0001324	Muscle weakness	291	SLC25A4	OMIM:615418
HP:0001324	Muscle weakness	6678	SPARC	OMIM:616507
HP:0001324	Muscle weakness	20	ABCA2	OMIM:618808
HP:0001324	Muscle weakness	9056	SLC7A7	OMIM:222700
HP:0001324	Muscle weakness	4982	TNFRSF11B	OMIM:239000
HP:0001324	Muscle weakness	11280	SCN11A	OMIM:615548
HP:0001324	Muscle weakness	128989	TANGO2	OMIM:616878
HP:0001324	Muscle weakness	57817	HAMP	ORPHA:79230
HP:0001324	Muscle weakness	148738	HJV	ORPHA:79230
HP:0001324	Muscle weakness	5498	PPOX	ORPHA:79473
HP:0001324	Muscle weakness	6197	RPS6KA3	ORPHA:192
HP:0001324	Muscle weakness	2517	FUCA1	OMIM:230000
HP:0001324	Muscle weakness	29957	SLC25A24	OMIM:612289
HP:0001324	Muscle weakness	203228	C9orf72	OMIM:105550
HP:0001324	Muscle weakness	10128	LRPPRC	ORPHA:70472
HP:0001324	Muscle weakness	6697	SPR	ORPHA:70594
HP:0001324	Muscle weakness	4714	NDUFB8	ORPHA:70474
HP:0001324	Muscle weakness	6834	SURF1	ORPHA:70474
HP:0001324	Muscle weakness	6182	MRPL12	OMIM:618951
HP:0001324	Muscle weakness	122553	TRAPPC6B	OMIM:617862
HP:0001324	Muscle weakness	4780	NFE2L2	OMIM:617744
HP:0001324	Muscle weakness	57570	TRMT5	OMIM:616539
HP:0001324	Muscle weakness	2645	GCK	ORPHA:79299
HP:0001324	Muscle weakness	617	BCS1L	OMIM:124000
HP:0001324	Muscle weakness	84628	NTNG2	OMIM:618718
HP:0001324	Muscle weakness	95	ACY1	OMIM:609924
HP:0001324	Muscle weakness	210	ALAD	ORPHA:100924
HP:0001324	Muscle weakness	178	AGL	OMIM:232400
HP:0001324	Muscle weakness	22943	DKK1	ORPHA:268882
HP:0001324	Muscle weakness	23533	PIK3R5	OMIM:615217
HP:0001324	Muscle weakness	8086	AAAS	OMIM:231550
HP:0001324	Muscle weakness	9451	EIF2AK3	ORPHA:1667
HP:0001324	Muscle weakness	101929726	MYMX	OMIM:619941
HP:0001324	Muscle weakness	115286	SLC25A26	OMIM:616794
HP:0001324	Muscle weakness	1235	CCR6	ORPHA:220393
HP:0001324	Muscle weakness	1490	CCN2	ORPHA:220393
HP:0001324	Muscle weakness	3663	IRF5	ORPHA:220393
HP:0001324	Muscle weakness	857	CAV1	ORPHA:220393
HP:0001324	Muscle weakness	131377	KLHL40	OMIM:615348
HP:0001324	Muscle weakness	6647	SOD1	OMIM:105400
HP:0001324	Muscle weakness	5630	PRPH	OMIM:105400
HP:0001324	Muscle weakness	4744	NEFH	OMIM:105400
HP:0001324	Muscle weakness	2108	ETFA	OMIM:231680
HP:0001324	Muscle weakness	2109	ETFB	OMIM:231680
HP:0001324	Muscle weakness	2110	ETFDH	OMIM:231680
HP:0001324	Muscle weakness	3119	HLA-DQB1	OMIM:126200
HP:0001324	Muscle weakness	5133	PDCD1	OMIM:126200
HP:0001324	Muscle weakness	8506	CNTNAP1	OMIM:618186
HP:0001324	Muscle weakness	8506	CNTNAP1	OMIM:616286
HP:0001324	Muscle weakness	112	ADCY6	OMIM:616287
HP:0001324	Muscle weakness	9289	ADGRG1	ORPHA:98889
HP:0001324	Muscle weakness	27286	SRPX2	ORPHA:98889
HP:0001324	Muscle weakness	6472	SHMT2	OMIM:619121
HP:0001324	Muscle weakness	10730	YME1L1	OMIM:617302
HP:0001324	Muscle weakness	4702	NDUFA8	OMIM:619272
HP:0001324	Muscle weakness	57190	SELENON	ORPHA:324604
HP:0001324	Muscle weakness	57190	SELENON	ORPHA:97244
HP:0001324	Muscle weakness	57190	SELENON	OMIM:602771
HP:0001324	Muscle weakness	57190	SELENON	ORPHA:2020
HP:0001324	Muscle weakness	4625	MYH7	ORPHA:324604
HP:0001324	Muscle weakness	7273	TTN	ORPHA:324604
HP:0001324	Muscle weakness	4359	MPZ	OMIM:618184
HP:0001324	Muscle weakness	58	ACTA1	ORPHA:97244
HP:0001324	Muscle weakness	58	ACTA1	ORPHA:2020
HP:0001324	Muscle weakness	54539	NDUFB11	ORPHA:2609
HP:0001324	Muscle weakness	25915	NDUFAF3	ORPHA:2609
HP:0001324	Muscle weakness	51103	NDUFAF1	ORPHA:2609
HP:0001324	Muscle weakness	91942	NDUFAF2	ORPHA:2609
HP:0001324	Muscle weakness	51300	TIMMDC1	ORPHA:2609
HP:0001324	Muscle weakness	4716	NDUFB10	ORPHA:2609
HP:0001324	Muscle weakness	4723	NDUFV1	ORPHA:2609
HP:0001324	Muscle weakness	55572	FOXRED1	ORPHA:2609
HP:0001324	Muscle weakness	284184	NDUFAF8	ORPHA:2609
HP:0001324	Muscle weakness	55863	TMEM126B	ORPHA:2609
HP:0001324	Muscle weakness	4535	MT-ND1	ORPHA:2609
HP:0001324	Muscle weakness	4537	MT-ND3	ORPHA:2609
HP:0001324	Muscle weakness	4729	NDUFV2	ORPHA:2609
HP:0001324	Muscle weakness	4694	NDUFA1	ORPHA:2609
HP:0001324	Muscle weakness	4720	NDUFS2	ORPHA:2609
HP:0001324	Muscle weakness	4724	NDUFS4	ORPHA:2609
HP:0001324	Muscle weakness	4724	NDUFS4	OMIM:252010
HP:0001324	Muscle weakness	4726	NDUFS6	ORPHA:2609
HP:0001324	Muscle weakness	4728	NDUFS8	ORPHA:2609
HP:0001324	Muscle weakness	4722	NDUFS3	ORPHA:2609
HP:0001324	Muscle weakness	79133	NDUFAF5	ORPHA:2609
HP:0001324	Muscle weakness	126328	NDUFA11	ORPHA:2609
HP:0001324	Muscle weakness	4709	NDUFB3	ORPHA:2609
HP:0001324	Muscle weakness	80224	NUBPL	ORPHA:2609
HP:0001324	Muscle weakness	29078	NDUFAF4	ORPHA:2609
HP:0001324	Muscle weakness	374291	NDUFS7	ORPHA:2609
HP:0001324	Muscle weakness	4700	NDUFA6	ORPHA:2609
HP:0001324	Muscle weakness	4536	MT-ND2	ORPHA:2609
HP:0001324	Muscle weakness	4719	NDUFS1	ORPHA:2609
HP:0001324	Muscle weakness	4715	NDUFB9	ORPHA:2609
HP:0001324	Muscle weakness	29925	GMPPB	OMIM:615350
HP:0001324	Muscle weakness	29925	GMPPB	OMIM:615351
HP:0001324	Muscle weakness	29925	GMPPB	ORPHA:353327
HP:0001324	Muscle weakness	2775	GNAO1	OMIM:617493
HP:0001324	Muscle weakness	2775	GNAO1	ORPHA:1934
HP:0001324	Muscle weakness	57128	LYRM4	OMIM:615595
HP:0001324	Muscle weakness	1144	CHRND	OMIM:616321
HP:0001324	Muscle weakness	5393	EXOSC9	OMIM:618065
HP:0001324	Muscle weakness	64116	SLC39A8	OMIM:616721
HP:0001324	Muscle weakness	64116	SLC39A8	ORPHA:468699
HP:0001324	Muscle weakness	1305	COL13A1	OMIM:616720
HP:0001324	Muscle weakness	1305	COL13A1	ORPHA:98914
HP:0001324	Muscle weakness	23394	ADNP	OMIM:615873
HP:0001324	Muscle weakness	8818	DPM2	ORPHA:329178
HP:0001324	Muscle weakness	781	CACNA2D1	OMIM:620149
HP:0001324	Muscle weakness	781	CACNA2D1	ORPHA:442835
HP:0001324	Muscle weakness	56623	INPP5E	OMIM:213300
HP:0001324	Muscle weakness	6571	SLC18A2	ORPHA:352649
HP:0001324	Muscle weakness	6571	SLC18A2	OMIM:618049
HP:0001324	Muscle weakness	170302	ARX	OMIM:308350
HP:0001324	Muscle weakness	170302	ARX	ORPHA:1934
HP:0001324	Muscle weakness	1605	DAG1	ORPHA:370997
HP:0001324	Muscle weakness	1605	DAG1	OMIM:616538
HP:0001324	Muscle weakness	3073	HEXA	OMIM:272800
HP:0001324	Muscle weakness	57165	GJC2	OMIM:608804
HP:0001324	Muscle weakness	55610	VPS50	OMIM:619685
HP:0001324	Muscle weakness	11277	TREX1	OMIM:225750
HP:0001324	Muscle weakness	10978	CLP1	ORPHA:411493
HP:0001324	Muscle weakness	10659	CELF2	OMIM:619561
HP:0001324	Muscle weakness	10659	CELF2	ORPHA:442835
HP:0001324	Muscle weakness	51506	UFC1	OMIM:618076
HP:0001324	Muscle weakness	63895	PIEZO2	OMIM:617146
HP:0001324	Muscle weakness	9342	SNAP29	ORPHA:66631
HP:0001324	Muscle weakness	9342	SNAP29	OMIM:609528
HP:0001324	Muscle weakness	5917	RARS1	ORPHA:438114
HP:0001324	Muscle weakness	5917	RARS1	OMIM:616140
HP:0001324	Muscle weakness	443	ASPA	ORPHA:314918
HP:0001324	Muscle weakness	443	ASPA	ORPHA:314911
HP:0001324	Muscle weakness	84466	MEGF10	OMIM:614399
HP:0001324	Muscle weakness	84197	POMK	OMIM:615249
HP:0001324	Muscle weakness	3097	HIVEP2	OMIM:616977
HP:0001324	Muscle weakness	51010	EXOSC3	OMIM:614678
HP:0001324	Muscle weakness	55033	FKBP14	OMIM:614557
HP:0001324	Muscle weakness	55033	FKBP14	ORPHA:300179
HP:0001324	Muscle weakness	55768	NGLY1	ORPHA:404454
HP:0001324	Muscle weakness	54820	NDE1	OMIM:605013
HP:0001324	Muscle weakness	79158	GNPTAB	OMIM:252500
HP:0001324	Muscle weakness	2673	GFPT1	ORPHA:353327
HP:0001324	Muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0001324	Muscle weakness	85365	ALG2	ORPHA:353327
HP:0001324	Muscle weakness	199857	ALG14	ORPHA:353327
HP:0001324	Muscle weakness	87178	PNPT1	ORPHA:319514
HP:0001324	Muscle weakness	87178	PNPT1	OMIM:614932
HP:0001324	Muscle weakness	55250	ELP2	OMIM:617270
HP:0001324	Muscle weakness	79868	ALG13	ORPHA:324422
HP:0001324	Muscle weakness	84340	GFM2	ORPHA:565624
HP:0001324	Muscle weakness	112939	NACC1	OMIM:617393
HP:0001324	Muscle weakness	100131801	PET100	OMIM:619055
HP:0001324	Muscle weakness	8913	CACNA1G	OMIM:618087
HP:0001324	Muscle weakness	84665	MYPN	ORPHA:171881
HP:0001324	Muscle weakness	7169	TPM2	ORPHA:171881
HP:0001324	Muscle weakness	7169	TPM2	ORPHA:2020
HP:0001324	Muscle weakness	7170	TPM3	ORPHA:171881
HP:0001324	Muscle weakness	7170	TPM3	ORPHA:2020
HP:0001324	Muscle weakness	4705	NDUFA10	OMIM:618243
HP:0001324	Muscle weakness	9512	PMPCB	OMIM:617954
HP:0001324	Muscle weakness	816	CAMK2B	OMIM:617799
HP:0001324	Muscle weakness	191	AHCY	OMIM:613752
HP:0001324	Muscle weakness	191	AHCY	ORPHA:88618
HP:0001324	Muscle weakness	51079	NDUFA13	OMIM:618249
HP:0001324	Muscle weakness	819	CAMLG	OMIM:620201
HP:0001324	Muscle weakness	6606	SMN1	OMIM:253300
HP:0001324	Muscle weakness	8604	SLC25A12	OMIM:612949
HP:0001324	Muscle weakness	5805	PTS	ORPHA:13
HP:0001324	Muscle weakness	8802	SUCLG1	OMIM:245400
HP:0001324	Muscle weakness	5354	PLP1	ORPHA:280210
HP:0001324	Muscle weakness	5354	PLP1	ORPHA:280219
HP:0001324	Muscle weakness	6792	CDKL5	ORPHA:505652
HP:0001324	Muscle weakness	6792	CDKL5	ORPHA:1934
HP:0001324	Muscle weakness	6712	SPTBN2	OMIM:600224
HP:0001324	Muscle weakness	1327	COX4I1	OMIM:619060
HP:0001324	Muscle weakness	4633	MYL2	ORPHA:2020
HP:0001324	Muscle weakness	3679	ITGA7	ORPHA:2020
HP:0001324	Muscle weakness	9200	HACD1	ORPHA:2020
HP:0001324	Muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0001324	Muscle weakness	6390	SDHB	OMIM:619224
HP:0001324	Muscle weakness	6390	SDHB	ORPHA:3208
HP:0001324	Muscle weakness	2903	GRIN2A	ORPHA:289266
HP:0001324	Muscle weakness	388962	BOLA3	OMIM:614299
HP:0001324	Muscle weakness	10352	WARS2	ORPHA:572798
HP:0001324	Muscle weakness	84342	COG8	ORPHA:95428
HP:0001324	Muscle weakness	3737	KCNA2	ORPHA:442835
HP:0001324	Muscle weakness	1759	DNM1	ORPHA:442835
HP:0001324	Muscle weakness	1759	DNM1	OMIM:620352
HP:0001324	Muscle weakness	8120	AP3B2	ORPHA:442835
HP:0001324	Muscle weakness	523	ATP6V1A	ORPHA:442835
HP:0001324	Muscle weakness	10991	SLC38A3	ORPHA:442835
HP:0001324	Muscle weakness	51343	FZR1	ORPHA:442835
HP:0001324	Muscle weakness	22906	TRAK1	ORPHA:442835
HP:0001324	Muscle weakness	2566	GABRG2	ORPHA:442835
HP:0001324	Muscle weakness	1917	EEF1A2	ORPHA:442835
HP:0001324	Muscle weakness	2561	GABRB2	ORPHA:442835
HP:0001324	Muscle weakness	8831	SYNGAP1	ORPHA:442835
HP:0001324	Muscle weakness	7532	YWHAG	ORPHA:442835
HP:0001324	Muscle weakness	79876	UBA5	ORPHA:442835
HP:0001324	Muscle weakness	6328	SCN3A	ORPHA:442835
HP:0001324	Muscle weakness	2558	GABRA5	ORPHA:442835
HP:0001324	Muscle weakness	2906	GRIN2D	ORPHA:442835
HP:0001324	Muscle weakness	116150	NUS1	ORPHA:442835
HP:0001324	Muscle weakness	774	CACNA1B	ORPHA:442835
HP:0001324	Muscle weakness	1213	CLTC	ORPHA:442835
HP:0001324	Muscle weakness	51741	WWOX	ORPHA:442835
HP:0001324	Muscle weakness	23334	SZT2	ORPHA:442835
HP:0001324	Muscle weakness	51412	ACTL6B	ORPHA:442835
HP:0001324	Muscle weakness	348980	HCN1	ORPHA:442835
HP:0001324	Muscle weakness	6506	SLC1A2	ORPHA:442835
HP:0001324	Muscle weakness	8867	SYNJ1	ORPHA:442835
HP:0001324	Muscle weakness	2258	FGF13	ORPHA:442835
HP:0001324	Muscle weakness	477	ATP1A2	ORPHA:442835
HP:0001324	Muscle weakness	3745	KCNB1	ORPHA:442835
HP:0001324	Muscle weakness	284111	SLC13A5	ORPHA:442835
HP:0001324	Muscle weakness	25977	NECAP1	ORPHA:442835
HP:0001324	Muscle weakness	16	AARS1	ORPHA:442835
HP:0001324	Muscle weakness	6334	SCN8A	ORPHA:442835
HP:0001324	Muscle weakness	22866	CNKSR2	ORPHA:442835
HP:0001324	Muscle weakness	9568	GABBR2	ORPHA:442835
HP:0001324	Muscle weakness	9568	GABBR2	OMIM:617904
HP:0001324	Muscle weakness	2555	GABRA2	ORPHA:442835
HP:0001324	Muscle weakness	55152	DALRD3	ORPHA:442835
HP:0001324	Muscle weakness	773	CACNA1A	ORPHA:442835
HP:0001324	Muscle weakness	26999	CYFIP2	ORPHA:442835
HP:0001324	Muscle weakness	4915	NTRK2	ORPHA:442835
HP:0001324	Muscle weakness	25973	PARS2	ORPHA:442835
HP:0001324	Muscle weakness	23097	CDK19	ORPHA:442835
HP:0001324	Muscle weakness	64801	ARV1	ORPHA:442835
HP:0001324	Muscle weakness	79947	DHDDS	ORPHA:442835
HP:0001324	Muscle weakness	2257	FGF12	ORPHA:442835
HP:0001324	Muscle weakness	5530	PPP3CA	ORPHA:442835
HP:0001324	Muscle weakness	478	ATP1A3	ORPHA:442835
HP:0001324	Muscle weakness	3028	HSD17B10	ORPHA:391428
HP:0001324	Muscle weakness	8943	AP3D1	OMIM:617050
HP:0001324	Muscle weakness	253738	EBF3	OMIM:617330
HP:0001324	Muscle weakness	5281	PIGF	OMIM:619356
HP:0001324	Muscle weakness	84879	MFSD2A	OMIM:616486
HP:0001324	Muscle weakness	10815	CPLX1	OMIM:617976
HP:0001324	Muscle weakness	3747	KCNC2	OMIM:619913
HP:0001324	Muscle weakness	116115	ZNF526	OMIM:619877
HP:0001324	Muscle weakness	538	ATP7A	OMIM:309400
HP:0001324	Muscle weakness	4191	MDH2	OMIM:617339
HP:0001324	Muscle weakness	9091	PIGQ	OMIM:618548
HP:0001324	Muscle weakness	9091	PIGQ	ORPHA:1934
HP:0001324	Muscle weakness	3251	HPRT1	OMIM:300322
HP:0001324	Muscle weakness	253959	RALGAPA1	OMIM:618797
HP:0001324	Muscle weakness	2273	FHL1	OMIM:300717
HP:0001324	Muscle weakness	163175	LGI4	OMIM:617468
HP:0001324	Muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0001324	Muscle weakness	4649	MYO9A	ORPHA:98914
HP:0001324	Muscle weakness	1103	CHAT	ORPHA:98914
HP:0001324	Muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0001324	Muscle weakness	6843	VAMP1	ORPHA:98914
HP:0001324	Muscle weakness	6843	VAMP1	OMIM:618323
HP:0001324	Muscle weakness	375790	AGRN	ORPHA:98914
HP:0001324	Muscle weakness	127833	SYT2	ORPHA:98914
HP:0001324	Muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0001324	Muscle weakness	6616	SNAP25	ORPHA:98914
HP:0001324	Muscle weakness	64135	IFIH1	OMIM:615846
HP:0001324	Muscle weakness	8292	COLQ	ORPHA:98915
HP:0001324	Muscle weakness	3913	LAMB2	ORPHA:98915
HP:0001324	Muscle weakness	57038	RARS2	OMIM:611523
HP:0001324	Muscle weakness	10681	GNB5	ORPHA:542306
HP:0001324	Muscle weakness	10667	FARS2	ORPHA:466722
HP:0001324	Muscle weakness	4841	NONO	ORPHA:466791
HP:0001324	Muscle weakness	4000	LMNA	ORPHA:157973
HP:0001324	Muscle weakness	7355	SLC35A2	OMIM:300896
HP:0001324	Muscle weakness	79147	FKRP	OMIM:613153
HP:0001324	Muscle weakness	111	ADCY5	OMIM:619651
HP:0001324	Muscle weakness	125988	MICOS13	OMIM:618329
HP:0001324	Muscle weakness	2902	GRIN1	OMIM:619814
HP:0001324	Muscle weakness	2902	GRIN1	ORPHA:1934
HP:0001324	Muscle weakness	6389	SDHA	ORPHA:3208
HP:0001324	Muscle weakness	6392	SDHD	ORPHA:3208
HP:0001324	Muscle weakness	644096	SDHAF1	ORPHA:3208
HP:0001324	Muscle weakness	51227	PIGP	OMIM:617599
HP:0001324	Muscle weakness	51227	PIGP	ORPHA:1934
HP:0001324	Muscle weakness	9725	TMEM63A	OMIM:618688
HP:0001324	Muscle weakness	50628	GEMIN4	OMIM:617913
HP:0001324	Muscle weakness	2581	GALC	ORPHA:206436
HP:0001324	Muscle weakness	5660	PSAP	ORPHA:206436
HP:0001324	Muscle weakness	5048	PAFAH1B1	ORPHA:95232
HP:0001324	Muscle weakness	57731	SPTBN4	OMIM:617519
HP:0001324	Muscle weakness	124454	EARS2	OMIM:614924
HP:0001324	Muscle weakness	1719	DHFR	OMIM:613839
HP:0001324	Muscle weakness	28962	OSTM1	OMIM:259720
HP:0001324	Muscle weakness	6567	SLC16A2	ORPHA:59
HP:0001324	Muscle weakness	64432	MRPS25	OMIM:619025
HP:0001324	Muscle weakness	9742	IFT140	OMIM:266920
HP:0001324	Muscle weakness	8884	SLC5A6	OMIM:618973
HP:0001324	Muscle weakness	133686	NADK2	OMIM:616034
HP:0001324	Muscle weakness	3658	IREB2	OMIM:618451
HP:0001324	Muscle weakness	221692	PHACTR1	OMIM:618298
HP:0001324	Muscle weakness	10243	GPHN	OMIM:615501
HP:0001324	Muscle weakness	1140	CHRNB1	OMIM:616313
HP:0001324	Muscle weakness	3329	HSPD1	OMIM:612233
HP:0001324	Muscle weakness	8449	DHX16	OMIM:618733
HP:0001324	Muscle weakness	7407	VARS1	OMIM:617802
HP:0001324	Muscle weakness	27445	PCLO	OMIM:608027
HP:0001324	Muscle weakness	3736	KCNA1	ORPHA:1934
HP:0001324	Muscle weakness	81603	TRIM8	ORPHA:1934
HP:0001324	Muscle weakness	79751	SLC25A22	ORPHA:1934
HP:0001324	Muscle weakness	150094	SIK1	ORPHA:1934
HP:0001324	Muscle weakness	8573	CASK	ORPHA:1934
HP:0001324	Muscle weakness	23312	DMXL2	ORPHA:1934
HP:0001324	Muscle weakness	2917	GRM7	ORPHA:1934
HP:0001324	Muscle weakness	11284	PNKP	ORPHA:1934
HP:0001324	Muscle weakness	6326	SCN2A	ORPHA:1934
HP:0001324	Muscle weakness	6324	SCN1B	ORPHA:1934
HP:0001324	Muscle weakness	4761	NEUROD2	ORPHA:1934
HP:0001324	Muscle weakness	9325	TRIP4	ORPHA:486815
HP:0001324	Muscle weakness	2760	GM2A	OMIM:272750
HP:0001324	Muscle weakness	7072	TIA1	OMIM:604454
HP:0001324	Muscle weakness	1410	CRYAB	OMIM:608810
HP:0001324	Muscle weakness	5376	PMP22	OMIM:118300
HP:0001324	Muscle weakness	5376	PMP22	OMIM:180800
HP:0001324	Muscle weakness	5376	PMP22	ORPHA:101081
HP:0001324	Muscle weakness	5376	PMP22	OMIM:118220
HP:0001324	Muscle weakness	5376	PMP22	OMIM:145900
HP:0001324	Muscle weakness	22880	MORC2	OMIM:616688
HP:0001324	Muscle weakness	22880	MORC2	ORPHA:466768
HP:0001324	Muscle weakness	9782	MATR3	OMIM:606070
HP:0001324	Muscle weakness	9782	MATR3	ORPHA:600
HP:0001324	Muscle weakness	50717	DCAF8	OMIM:610100
HP:0001324	Muscle weakness	4747	NEFL	ORPHA:99939
HP:0001324	Muscle weakness	4747	NEFL	ORPHA:101085
HP:0001324	Muscle weakness	4747	NEFL	OMIM:607684
HP:0001324	Muscle weakness	4747	NEFL	OMIM:607734
HP:0001324	Muscle weakness	4747	NEFL	OMIM:617882
HP:0001324	Muscle weakness	2521	FUS	ORPHA:275872
HP:0001324	Muscle weakness	2521	FUS	ORPHA:300605
HP:0001324	Muscle weakness	8878	SQSTM1	ORPHA:275872
HP:0001324	Muscle weakness	7415	VCP	ORPHA:275872
HP:0001324	Muscle weakness	7415	VCP	ORPHA:52430
HP:0001324	Muscle weakness	7415	VCP	ORPHA:329478
HP:0001324	Muscle weakness	7415	VCP	ORPHA:435387
HP:0001324	Muscle weakness	23435	TARDBP	ORPHA:275872
HP:0001324	Muscle weakness	29110	TBK1	ORPHA:275872
HP:0001324	Muscle weakness	400916	CHCHD10	ORPHA:275872
HP:0001324	Muscle weakness	9499	MYOT	ORPHA:266
HP:0001324	Muscle weakness	7879	RAB7A	OMIM:600882
HP:0001324	Muscle weakness	2617	GARS1	OMIM:619042
HP:0001324	Muscle weakness	2617	GARS1	OMIM:601472
HP:0001324	Muscle weakness	2617	GARS1	OMIM:600794
HP:0001324	Muscle weakness	3074	HEXB	ORPHA:309162
HP:0001324	Muscle weakness	10743	RAI1	ORPHA:477817
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:607831
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:607706
HP:0001324	Muscle weakness	54332	GDAP1	ORPHA:99948
HP:0001324	Muscle weakness	54332	GDAP1	ORPHA:99944
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:214400
HP:0001324	Muscle weakness	56704	JPH1	OMIM:607831
HP:0001324	Muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0001324	Muscle weakness	10908	PNPLA6	OMIM:275400
HP:0001324	Muscle weakness	3508	IGHMBP2	OMIM:604320
HP:0001324	Muscle weakness	81846	SBF2	OMIM:604563
HP:0001324	Muscle weakness	5428	POLG	ORPHA:298
HP:0001324	Muscle weakness	5428	POLG	OMIM:607459
HP:0001324	Muscle weakness	5428	POLG	OMIM:258450
HP:0001324	Muscle weakness	5428	POLG	OMIM:603041
HP:0001324	Muscle weakness	1890	TYMP	ORPHA:298
HP:0001324	Muscle weakness	1890	TYMP	OMIM:603041
HP:0001324	Muscle weakness	3980	LIG3	ORPHA:298
HP:0001324	Muscle weakness	50484	RRM2B	ORPHA:298
HP:0001324	Muscle weakness	2892	GRIA3	OMIM:300699
HP:0001324	Muscle weakness	2892	GRIA3	ORPHA:364028
HP:0001324	Muscle weakness	4358	MPV17	OMIM:618400
HP:0001324	Muscle weakness	4358	MPV17	OMIM:256810
HP:0001324	Muscle weakness	57449	PLEKHG5	OMIM:615376
HP:0001324	Muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0001324	Muscle weakness	274	BIN1	OMIM:255200
HP:0001324	Muscle weakness	55157	DARS2	ORPHA:137898
HP:0001324	Muscle weakness	4604	MYBPC1	OMIM:618524
HP:0001324	Muscle weakness	7920	ABHD16A	OMIM:619735
HP:0001324	Muscle weakness	29967	LRP12	OMIM:164310
HP:0001324	Muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0001324	Muscle weakness	5832	ALDH18A1	OMIM:601162
HP:0001324	Muscle weakness	4620	MYH2	OMIM:605637
HP:0001324	Muscle weakness	51651	PTRH2	ORPHA:456312
HP:0001324	Muscle weakness	51651	PTRH2	OMIM:616263
HP:0001324	Muscle weakness	88	ACTN2	OMIM:618654
HP:0001324	Muscle weakness	88	ACTN2	OMIM:618655
HP:0001324	Muscle weakness	83636	C19orf12	OMIM:614298
HP:0001324	Muscle weakness	9517	SPTLC2	OMIM:613640
HP:0001324	Muscle weakness	9517	SPTLC2	ORPHA:36386
HP:0001324	Muscle weakness	65998	ZFTA	ORPHA:251636
HP:0001324	Muscle weakness	5970	RELA	ORPHA:251636
HP:0001324	Muscle weakness	23230	VPS13A	ORPHA:2388
HP:0001324	Muscle weakness	9896	FIG4	OMIM:611228
HP:0001324	Muscle weakness	10558	SPTLC1	ORPHA:36386
HP:0001324	Muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0001324	Muscle weakness	10558	SPTLC1	OMIM:162400
HP:0001324	Muscle weakness	25923	ATL3	ORPHA:36386
HP:0001324	Muscle weakness	51062	ATL1	ORPHA:36386
HP:0001324	Muscle weakness	59341	TRPV4	OMIM:600175
HP:0001324	Muscle weakness	23299	BICD2	ORPHA:363454
HP:0001324	Muscle weakness	9131	AIFM1	ORPHA:101078
HP:0001324	Muscle weakness	5255	PHKA1	OMIM:300559
HP:0001324	Muscle weakness	60481	ELOVL5	OMIM:615957
HP:0001324	Muscle weakness	60481	ELOVL5	ORPHA:423296
HP:0001324	Muscle weakness	8898	MTMR2	OMIM:601382
HP:0001324	Muscle weakness	80208	SPG11	ORPHA:300605
HP:0001324	Muscle weakness	80208	SPG11	OMIM:602099
HP:0001324	Muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0001324	Muscle weakness	10280	SIGMAR1	OMIM:605726
HP:0001324	Muscle weakness	57679	ALS2	ORPHA:300605
HP:0001324	Muscle weakness	57679	ALS2	OMIM:205100
HP:0001324	Muscle weakness	23095	KIF1B	OMIM:118210
HP:0001324	Muscle weakness	11261	CHP1	OMIM:618438
HP:0001324	Muscle weakness	5191	PEX7	OMIM:614879
HP:0001324	Muscle weakness	8106	PABPN1	OMIM:164300
HP:0001324	Muscle weakness	8565	YARS1	OMIM:608323
HP:0001324	Muscle weakness	19	ABCA1	ORPHA:31150
HP:0001324	Muscle weakness	3178	HNRNPA1	ORPHA:52430
HP:0001324	Muscle weakness	3181	HNRNPA2B1	ORPHA:52430
HP:0001324	Muscle weakness	5981	RFC1	ORPHA:504476
HP:0001324	Muscle weakness	3300	DNAJB2	OMIM:614881
HP:0001324	Muscle weakness	7317	UBA1	ORPHA:1145
HP:0001324	Muscle weakness	26353	HSPB8	OMIM:608673
HP:0001324	Muscle weakness	26353	HSPB8	OMIM:158590
HP:0001324	Muscle weakness	23479	ISCU	OMIM:255125
HP:0001324	Muscle weakness	3098	HK1	OMIM:605285
HP:0001324	Muscle weakness	79628	SH3TC2	OMIM:601596
HP:0001324	Muscle weakness	79628	SH3TC2	ORPHA:99949
HP:0001324	Muscle weakness	10397	NDRG1	ORPHA:99950
HP:0001324	Muscle weakness	10397	NDRG1	OMIM:601455
HP:0001324	Muscle weakness	9217	VAPB	OMIM:182980
HP:0001324	Muscle weakness	9217	VAPB	OMIM:608627
HP:0001324	Muscle weakness	56652	TWNK	OMIM:607459
HP:0001324	Muscle weakness	57716	PRX	OMIM:614895
HP:0001324	Muscle weakness	57716	PRX	OMIM:145900
HP:0001324	Muscle weakness	57410	SCYL1	OMIM:616719
HP:0001324	Muscle weakness	23534	TNPO3	OMIM:608423
HP:0001324	Muscle weakness	23064	SETX	OMIM:606002
HP:0001324	Muscle weakness	23064	SETX	OMIM:602433
HP:0001324	Muscle weakness	23064	SETX	ORPHA:357043
HP:0001324	Muscle weakness	1959	EGR2	OMIM:145900
HP:0001324	Muscle weakness	1959	EGR2	OMIM:607678
HP:0001324	Muscle weakness	1959	EGR2	OMIM:605253
HP:0001324	Muscle weakness	389827	MYMK	OMIM:254940
HP:0001324	Muscle weakness	6310	ATXN1	OMIM:164400
HP:0001324	Muscle weakness	1785	DNM2	OMIM:606482
HP:0001324	Muscle weakness	8729	GBF1	OMIM:606483
HP:0001324	Muscle weakness	353116	RILPL1	OMIM:619790
HP:0001324	Muscle weakness	55906	ZC4H2	OMIM:301041
HP:0001324	Muscle weakness	4141	MARS1	OMIM:616280
HP:0001324	Muscle weakness	10020	GNE	OMIM:605820
HP:0001324	Muscle weakness	3315	HSPB1	OMIM:606595
HP:0001324	Muscle weakness	10516	FBLN5	OMIM:608895
HP:0001324	Muscle weakness	11160	ERLIN2	ORPHA:209951
HP:0001324	Muscle weakness	55187	VPS13D	OMIM:607317
HP:0001324	Muscle weakness	90678	LRSAM1	OMIM:614436
HP:0001324	Muscle weakness	7084	TK2	ORPHA:254875
HP:0001324	Muscle weakness	8888	MCM3AP	OMIM:618124
HP:0001324	Muscle weakness	5631	PRPS1	OMIM:311070
HP:0001324	Muscle weakness	3035	HARS1	OMIM:616625
HP:0001324	Muscle weakness	1292	COL6A2	OMIM:255600
HP:0001324	Muscle weakness	1292	COL6A2	ORPHA:610
HP:0001324	Muscle weakness	1292	COL6A2	OMIM:158810
HP:0001324	Muscle weakness	2705	GJB1	OMIM:302800
HP:0001324	Muscle weakness	2992	GYG1	OMIM:616199
HP:0001324	Muscle weakness	64423	INF2	OMIM:614455
HP:0001324	Muscle weakness	89874	SLC25A21	OMIM:618811
HP:0001324	Muscle weakness	9531	BAG3	OMIM:612954
HP:0001324	Muscle weakness	28982	FLVCR1	OMIM:609033
HP:0001324	Muscle weakness	81857	MED25	OMIM:605589
HP:0001324	Muscle weakness	65260	COA7	OMIM:618387
HP:0001324	Muscle weakness	10755	GIPC1	OMIM:618940
HP:0001324	Muscle weakness	1778	DYNC1H1	OMIM:614228
HP:0001324	Muscle weakness	1639	DCTN1	OMIM:607641
HP:0001324	Muscle weakness	4287	ATXN3	ORPHA:276244
HP:0001324	Muscle weakness	476	ATP1A1	OMIM:618036
HP:0001324	Muscle weakness	5375	PMP2	OMIM:618279
HP:0001324	Muscle weakness	1674	DES	OMIM:601419
HP:0001324	Muscle weakness	1786	DNMT1	OMIM:614116
HP:0001324	Muscle weakness	54676	GTPBP2	OMIM:617988
HP:0001324	Muscle weakness	93587	TRMT10A	ORPHA:391408
HP:0001324	Muscle weakness	84919	PPP1R15B	ORPHA:391408
HP:0001324	Muscle weakness	6663	SOX10	OMIM:609136
HP:0001324	Muscle weakness	3710	ITPR3	OMIM:620111
HP:0001324	Muscle weakness	9516	LITAF	OMIM:601098
HP:0001324	Muscle weakness	1303	COL12A1	ORPHA:610
HP:0001324	Muscle weakness	1291	COL6A1	ORPHA:610
HP:0001324	Muscle weakness	1291	COL6A1	OMIM:158810
HP:0001324	Muscle weakness	1293	COL6A3	ORPHA:610
HP:0001324	Muscle weakness	1293	COL6A3	OMIM:158810
HP:0001324	Muscle weakness	26278	SACS	OMIM:270550
HP:0001324	Muscle weakness	26092	TOR1AIP1	OMIM:617072
HP:0001324	Muscle weakness	1716	DGUOK	OMIM:617070
HP:0001324	Muscle weakness	3920	LAMP2	OMIM:300257
HP:0001324	Muscle weakness	7515	XRCC1	OMIM:617633
HP:0001324	Muscle weakness	60386	SLC25A19	OMIM:613710
HP:0001324	Muscle weakness	283	ANG	OMIM:611895
HP:0001324	Muscle weakness	79784	MYH14	OMIM:614369
HP:0001324	Muscle weakness	8139	GAN	ORPHA:643
HP:0001324	Muscle weakness	8139	GAN	OMIM:256850
HP:0001324	Muscle weakness	26580	BSCL2	OMIM:270685
HP:0001324	Muscle weakness	4668	NAGA	OMIM:609242
HP:0001324	Muscle weakness	1371	CPOX	ORPHA:79273
HP:0001324	Muscle weakness	3145	HMBS	ORPHA:79276
HP:0001324	Muscle weakness	65055	REEP1	OMIM:620011
HP:0001324	Muscle weakness	50846	DHH	ORPHA:168563
HP:0001324	Muscle weakness	2643	GCH1	ORPHA:98808
HP:0001324	Muscle weakness	4929	NR4A2	ORPHA:98808
HP:0001324	Muscle weakness	3615	IMPDH2	ORPHA:98808
HP:0001324	Muscle weakness	4570	MT-TN	OMIM:220110
HP:0001324	Muscle weakness	4570	MT-TN	ORPHA:663
HP:0001324	Muscle weakness	4618	MYF6	ORPHA:169189
HP:0001324	Muscle weakness	4568	MT-TL2	ORPHA:663
HP:0001324	Muscle weakness	92667	MGME1	ORPHA:352447
HP:0001324	Muscle weakness	51244	CCDC174	OMIM:616816
HP:0001324	Muscle weakness	51	ACOX1	OMIM:618960
HP:0001324	Muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0001324	Muscle weakness	2010	EMD	ORPHA:98863
HP:0001324	Muscle weakness	8803	SUCLA2	OMIM:612073
HP:0001324	Muscle weakness	54808	DYM	ORPHA:239
HP:0001324	Muscle weakness	55670	PEX26	ORPHA:772
HP:0001324	Muscle weakness	5824	PEX19	ORPHA:772
HP:0001324	Muscle weakness	5828	PEX2	ORPHA:772
HP:0001324	Muscle weakness	8504	PEX3	ORPHA:772
HP:0001324	Muscle weakness	9409	PEX16	ORPHA:772
HP:0001324	Muscle weakness	5190	PEX6	ORPHA:772
HP:0001324	Muscle weakness	5189	PEX1	ORPHA:772
HP:0001324	Muscle weakness	5193	PEX12	ORPHA:772
HP:0001324	Muscle weakness	5195	PEX14	ORPHA:772
HP:0001324	Muscle weakness	5192	PEX10	ORPHA:772
HP:0001324	Muscle weakness	64374	SIL1	OMIM:248800
HP:0001324	Muscle weakness	27235	COQ2	OMIM:607426
HP:0001324	Muscle weakness	9453	GGPS1	OMIM:619518
HP:0001324	Muscle weakness	22845	DOLK	ORPHA:91131
HP:0001324	Muscle weakness	7138	TNNT1	ORPHA:98902
HP:0001324	Muscle weakness	7138	TNNT1	OMIM:605355
HP:0001324	Muscle weakness	5256	PHKA2	ORPHA:264580
HP:0001324	Muscle weakness	5261	PHKG2	ORPHA:264580
HP:0001324	Muscle weakness	125170	MIEF2	OMIM:619024
HP:0001324	Muscle weakness	93627	TBCK	ORPHA:488632
HP:0001324	Muscle weakness	3064	HTT	ORPHA:399
HP:0001324	Muscle weakness	6515	SLC2A3	ORPHA:399
HP:0001324	Muscle weakness	595	CCND1	ORPHA:29073
HP:0001324	Muscle weakness	84334	COA8	ORPHA:436271
HP:0001324	Muscle weakness	4221	MEN1	ORPHA:97279
HP:0001324	Muscle weakness	7528	YY1	ORPHA:97279
HP:0001324	Muscle weakness	4534	MTM1	OMIM:310400
HP:0001324	Muscle weakness	23556	PIGN	ORPHA:280633
HP:0001324	Muscle weakness	486	FXYD2	OMIM:154020
HP:0001324	Muscle weakness	200205	IBA57	OMIM:615330
HP:0001324	Muscle weakness	25978	CHMP2B	ORPHA:803
HP:0001324	Muscle weakness	8148	TAF15	ORPHA:803
HP:0001324	Muscle weakness	5445	PON2	ORPHA:803
HP:0001324	Muscle weakness	55830	GLT8D1	ORPHA:803
HP:0001324	Muscle weakness	755	CFAP410	ORPHA:803
HP:0001324	Muscle weakness	10891	PPARGC1A	ORPHA:803
HP:0001324	Muscle weakness	5444	PON1	ORPHA:803
HP:0001324	Muscle weakness	5446	PON3	ORPHA:803
HP:0001324	Muscle weakness	54209	TREM2	ORPHA:803
HP:0001324	Muscle weakness	29978	UBQLN2	ORPHA:803
HP:0001324	Muscle weakness	2733	GLE1	ORPHA:803
HP:0001324	Muscle weakness	4750	NEK1	ORPHA:803
HP:0001324	Muscle weakness	2043	EPHA4	ORPHA:803
HP:0001324	Muscle weakness	6311	ATXN2	ORPHA:803
HP:0001324	Muscle weakness	1610	DAO	ORPHA:803
HP:0001324	Muscle weakness	2066	ERBB4	ORPHA:803
HP:0001324	Muscle weakness	23025	UNC13A	ORPHA:803
HP:0001324	Muscle weakness	6557	SLC12A1	OMIM:601678
HP:0001324	Muscle weakness	5903	RANBP2	ORPHA:88619
HP:0001324	Muscle weakness	3758	KCNJ1	OMIM:241200
HP:0001324	Muscle weakness	10058	ABCB6	OMIM:609153
HP:0001324	Muscle weakness	8398	PLA2G6	OMIM:256600
HP:0001324	Muscle weakness	25953	PNKD	ORPHA:98810
HP:0001324	Muscle weakness	6445	SGCG	ORPHA:353
HP:0001324	Muscle weakness	6445	SGCG	OMIM:253700
HP:0001324	Muscle weakness	10290	SPEG	ORPHA:169186
HP:0001324	Muscle weakness	91452	ACBD5	OMIM:618863
HP:0001324	Muscle weakness	1763	DNA2	OMIM:615156
HP:0001324	Muscle weakness	1763	DNA2	ORPHA:352470
HP:0001324	Muscle weakness	10367	MICU1	OMIM:615673
HP:0001324	Muscle weakness	60684	TRAPPC11	OMIM:615356
HP:0001324	Muscle weakness	859	CAV3	OMIM:606072
HP:0001324	Muscle weakness	79912	PYROXD1	OMIM:617258
HP:0001324	Muscle weakness	1756	DMD	OMIM:310200
HP:0001324	Muscle weakness	203547	VMA21	OMIM:310440
HP:0001324	Muscle weakness	23345	SYNE1	ORPHA:319332
HP:0001324	Muscle weakness	23345	SYNE1	OMIM:618484
HP:0001324	Muscle weakness	6442	SGCA	ORPHA:62
HP:0001324	Muscle weakness	6442	SGCA	OMIM:608099
HP:0001324	Muscle weakness	10049	DNAJB6	OMIM:603511
HP:0001324	Muscle weakness	1120	CHKB	OMIM:602541
HP:0001324	Muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0001324	Muscle weakness	6901	TAFAZZIN	OMIM:302060
HP:0001324	Muscle weakness	54344	DPM3	OMIM:612937
HP:0001324	Muscle weakness	57104	PNPLA2	OMIM:610717
HP:0001324	Muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0001324	Muscle weakness	427	ASAH1	OMIM:159950
HP:0001324	Muscle weakness	6444	SGCD	OMIM:601287
HP:0001324	Muscle weakness	146862	UNC45B	OMIM:619178
HP:0001324	Muscle weakness	22954	TRIM32	OMIM:254110
HP:0001324	Muscle weakness	55624	POMGNT1	OMIM:613157
HP:0001324	Muscle weakness	267010	RNU12	OMIM:620208
HP:0001324	Muscle weakness	1073	CFL2	OMIM:610687
HP:0001324	Muscle weakness	2218	FKTN	OMIM:611615
HP:0001324	Muscle weakness	2218	FKTN	OMIM:611588
HP:0001324	Muscle weakness	80324	PUS1	OMIM:600462
HP:0001324	Muscle weakness	112812	FDX2	OMIM:251900
HP:0001324	Muscle weakness	84892	POMGNT2	OMIM:618135
HP:0001324	Muscle weakness	51763	INPP5K	OMIM:617404
HP:0001324	Muscle weakness	529	ATP6V1E1	OMIM:617402
HP:0001324	Muscle weakness	3908	LAMA2	OMIM:618138
HP:0001324	Muscle weakness	55154	MSTO1	ORPHA:502423
HP:0001324	Muscle weakness	6443	SGCB	ORPHA:119
HP:0001324	Muscle weakness	50640	PNPLA8	OMIM:251950
HP:0001324	Muscle weakness	246329	STAC3	OMIM:255995
HP:0001324	Muscle weakness	2628	GATM	OMIM:612718
HP:0001324	Muscle weakness	112476	PRRT2	ORPHA:569
HP:0001324	Muscle weakness	6323	SCN1A	ORPHA:569
HP:0001324	Muscle weakness	5339	PLEC	ORPHA:257
HP:0001324	Muscle weakness	34	ACADM	ORPHA:42
HP:0001324	Muscle weakness	844	CASQ1	ORPHA:2593
HP:0001324	Muscle weakness	84876	ORAI1	ORPHA:2593
HP:0001324	Muscle weakness	6786	STIM1	ORPHA:2593
HP:0001324	Muscle weakness	2767	GNA11	ORPHA:428
HP:0001324	Muscle weakness	846	CASR	ORPHA:428
HP:0001324	Muscle weakness	6261	RYR1	ORPHA:424107
HP:0001324	Muscle weakness	10568	SLC34A2	ORPHA:60025
HP:0001324	Muscle weakness	28976	ACAD9	ORPHA:99901
HP:0001324	Muscle weakness	1789	DNMT3B	OMIM:619478
HP:0001324	Muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0001324	Muscle weakness	9420	CYP7B1	OMIM:270800
HP:0001324	Muscle weakness	8314	BAP1	ORPHA:2495
HP:0001324	Muscle weakness	5155	PDGFB	ORPHA:2495
HP:0001324	Muscle weakness	84231	TRAF7	ORPHA:2495
HP:0001324	Muscle weakness	6608	SMO	ORPHA:2495
HP:0001324	Muscle weakness	207	AKT1	ORPHA:2495
HP:0001324	Muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0001324	Muscle weakness	51684	SUFU	ORPHA:2495
HP:0001324	Muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0001324	Muscle weakness	6305	SBF1	OMIM:615284
HP:0001324	Muscle weakness	8566	PDXK	OMIM:618511
HP:0001324	Muscle weakness	5456	POU3F4	ORPHA:1435
HP:0001324	Muscle weakness	7428	VHL	ORPHA:892
HP:0001324	Muscle weakness	23636	NUP62	ORPHA:225154
HP:0001324	Muscle weakness	103	ADAR	ORPHA:225154
HP:0001324	Muscle weakness	55681	SCYL2	ORPHA:1143
HP:0001324	Muscle weakness	84570	COL25A1	ORPHA:1143
HP:0001324	Muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0001324	Muscle weakness	23111	SPART	ORPHA:101000
HP:0001324	Muscle weakness	80199	FUZ	ORPHA:1136
HP:0001324	Muscle weakness	3798	KIF5A	OMIM:604187
HP:0001324	Muscle weakness	121512	FGD4	OMIM:609311
HP:0001324	Muscle weakness	11232	POLG2	ORPHA:254892
HP:0001324	Muscle weakness	2670	GFAP	ORPHA:363722
HP:0001324	Muscle weakness	5264	PHYH	OMIM:266500
HP:0001324	Muscle weakness	540	ATP7B	OMIM:277900
HP:0001324	Muscle weakness	272	AMPD3	ORPHA:45
HP:0001324	Muscle weakness	966	CD59	OMIM:612300
HP:0001324	Muscle weakness	686	BTD	ORPHA:79241
HP:0001324	Muscle weakness	57704	GBA2	OMIM:614409
HP:0001324	Muscle weakness	367	AR	OMIM:313200
HP:0001324	Muscle weakness	9853	RUSC2	OMIM:617773
HP:0001324	Muscle weakness	80308	FLAD1	OMIM:255100
HP:0001324	Muscle weakness	56997	COQ8A	ORPHA:139485
HP:0001324	Muscle weakness	56997	COQ8A	OMIM:612016
HP:0001324	Muscle weakness	7156	TOP3A	OMIM:618098
HP:0001324	Muscle weakness	4632	MYL1	OMIM:618414
HP:0001324	Muscle weakness	284439	SLC25A42	OMIM:618416
HP:0001324	Muscle weakness	5566	PRKACA	OMIM:615830
HP:0001324	Muscle weakness	5566	PRKACA	ORPHA:189439
HP:0001324	Muscle weakness	8622	PDE8B	ORPHA:189439
HP:0001324	Muscle weakness	4976	OPA1	OMIM:165500
HP:0001324	Muscle weakness	64419	MTMR14	OMIM:160150
HP:0001324	Muscle weakness	79798	ARMC5	ORPHA:189427
HP:0001324	Muscle weakness	2778	GNAS	ORPHA:189427
HP:0001324	Muscle weakness	11149	BVES	OMIM:616812
HP:0001324	Muscle weakness	4942	OAT	OMIM:258870
HP:0001324	Muscle weakness	126129	CPT1C	OMIM:616282
HP:0001324	Muscle weakness	79188	TMEM43	OMIM:614302
HP:0001324	Muscle weakness	7555	CNBP	OMIM:602668
HP:0001324	Muscle weakness	4507	MTAP	OMIM:112250
HP:0001324	Muscle weakness	56244	BTNL2	ORPHA:797
HP:0001324	Muscle weakness	8425	LTBP4	ORPHA:98896
HP:0001324	Muscle weakness	84265	POLR3GL	OMIM:619234
HP:0001324	Muscle weakness	55791	LRIF1	OMIM:619477
HP:0001324	Muscle weakness	8087	FXR1	OMIM:618823
HP:0001324	Muscle weakness	10345	TRDN	OMIM:615441
HP:0001324	Muscle weakness	64208	POPDC3	OMIM:618848
HP:0001324	Muscle weakness	90523	MLIP	OMIM:620138
HP:0001324	Muscle weakness	23224	SYNE2	OMIM:612999
HP:0001324	Muscle weakness	5257	PHKB	ORPHA:79240
HP:0001324	Muscle weakness	6607	SMN2	OMIM:253400
HP:0001324	Muscle weakness	203859	ANO5	OMIM:611307
HP:0001324	Muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:613345
HP:0001324	Muscle weakness	6329	SCN4A	ORPHA:682
HP:0001324	Muscle weakness	6329	SCN4A	ORPHA:681
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:170400
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:170500
HP:0001324	Muscle weakness	779	CACNA1S	ORPHA:681
HP:0001324	Muscle weakness	779	CACNA1S	ORPHA:79102
HP:0001324	Muscle weakness	779	CACNA1S	OMIM:170400
HP:0001324	Muscle weakness	10008	KCNE3	ORPHA:681
HP:0001324	Muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0001324	Muscle weakness	2556	GABRA3	ORPHA:79102
HP:0001324	Muscle weakness	3762	KCNJ5	ORPHA:37553
HP:0001324	Muscle weakness	3759	KCNJ2	ORPHA:37553
HP:0001324	Muscle weakness	2548	GAA	OMIM:232300
HP:0001324	Muscle weakness	7167	TPI1	ORPHA:868
HP:0001324	Muscle weakness	79776	ZFHX4	ORPHA:91411
HP:0001324	Muscle weakness	9897	WASHC5	ORPHA:100989
HP:0001324	Muscle weakness	9897	WASHC5	OMIM:603563
HP:0001324	Muscle weakness	6683	SPAST	ORPHA:100985
HP:0001324	Muscle weakness	6683	SPAST	OMIM:182601
HP:0001324	Muscle weakness	80821	DDHD1	OMIM:609340
HP:0001324	Muscle weakness	80821	DDHD1	ORPHA:101008
HP:0001324	Muscle weakness	1593	CYP27A1	OMIM:213700
HP:0001324	Muscle weakness	123606	NIPA1	OMIM:600363
HP:0001324	Muscle weakness	81790	RNF170	OMIM:619686
HP:0001324	Muscle weakness	518	ATP5MC3	OMIM:619681
HP:0001324	Muscle weakness	2782	GNB1	OMIM:616973
HP:0001324	Muscle weakness	25778	DSTYK	OMIM:270750
HP:0001324	Muscle weakness	51324	SPG21	OMIM:248900
HP:0001324	Muscle weakness	51324	SPG21	ORPHA:101001
HP:0001324	Muscle weakness	51116	MRPS2	OMIM:617950
HP:0001324	Muscle weakness	9692	PRORP	OMIM:619737
HP:0001324	Muscle weakness	118813	ZFYVE27	OMIM:610244
HP:0001324	Muscle weakness	5921	RASA1	ORPHA:90307
HP:0001324	Muscle weakness	823	CAPN1	OMIM:616907
HP:0001324	Muscle weakness	823	CAPN1	ORPHA:488594
HP:0001324	Muscle weakness	5297	PI4KA	OMIM:619621
HP:0001324	Muscle weakness	84668	HYCC1	OMIM:610532
HP:0001324	Muscle weakness	9907	AP5Z1	OMIM:613647
HP:0001324	Muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0001324	Muscle weakness	2313	FLI1	ORPHA:370348
HP:0001324	Muscle weakness	3839	KPNA3	OMIM:620106
HP:0001324	Muscle weakness	3839	KPNA3	ORPHA:171612
HP:0001324	Muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0001324	Muscle weakness	6253	RTN2	OMIM:604805
HP:0001324	Muscle weakness	6253	RTN2	ORPHA:100993
HP:0001324	Muscle weakness	5165	PDK3	ORPHA:352675
HP:0001324	Muscle weakness	51271	UBAP1	ORPHA:100993
HP:0001324	Muscle weakness	7143	TNR	OMIM:619653
HP:0001324	Muscle weakness	23259	DDHD2	OMIM:615033
HP:0001324	Muscle weakness	8988	HSPB3	OMIM:613376
HP:0001324	Muscle weakness	23676	SMPX	OMIM:301075
HP:0001324	Muscle weakness	59345	GNB4	OMIM:615185
HP:0001324	Muscle weakness	3714	JAG2	OMIM:619566
HP:0001324	Muscle weakness	6652	SORD	OMIM:618912
HP:0001324	Muscle weakness	7453	WARS1	OMIM:617721
HP:0001324	Muscle weakness	56983	POGLUT1	OMIM:617232
HP:0001324	Muscle weakness	6497	SKI	OMIM:182212
HP:0001324	Muscle weakness	2483	FRG1	OMIM:158900
HP:0001324	Muscle weakness	23347	SMCHD1	ORPHA:2250
HP:0001324	Muscle weakness	1594	CYP27B1	OMIM:264700
HP:0001324	Muscle weakness	7421	VDR	OMIM:277440
HP:0001324	Muscle weakness	311	ANXA11	OMIM:619733
HP:0001324	Muscle weakness	825	CAPN3	OMIM:618129
HP:0001324	Muscle weakness	5728	PTEN	ORPHA:109
HP:0001324	Muscle weakness	5605	MAP2K2	ORPHA:638
HP:0001324	Muscle weakness	4763	NF1	ORPHA:638
HP:0001324	Muscle weakness	3094	HINT1	ORPHA:324442
HP:0001324	Muscle weakness	3094	HINT1	OMIM:137200
HP:0001324	Muscle weakness	4311	MME	OMIM:617017
HP:0001324	Muscle weakness	4311	MME	ORPHA:497764
HP:0001324	Muscle weakness	10324	KLHL41	ORPHA:171436
HP:0001324	Muscle weakness	56203	LMOD3	ORPHA:171436
HP:0001324	Muscle weakness	6905	TBCE	ORPHA:496756
HP:0001324	Muscle weakness	6905	TBCE	OMIM:617207
HP:0001324	Muscle weakness	1130	LYST	OMIM:214500
HP:0001324	Muscle weakness	116228	COX20	OMIM:619054
HP:0001324	Muscle weakness	64856	VWA1	OMIM:619216
HP:0001324	Muscle weakness	8557	TCAP	OMIM:601954
HP:0001324	Muscle weakness	547	KIF1A	OMIM:614213
HP:0001324	Muscle weakness	3735	KARS1	OMIM:613641
HP:0001324	Muscle weakness	2783	GNB2	OMIM:619503
HP:0001324	Muscle weakness	91574	MTRFR	OMIM:615035
HP:0001324	Muscle weakness	91574	MTRFR	ORPHA:320375
HP:0001324	Muscle weakness	2318	FLNC	ORPHA:63273
HP:0001324	Muscle weakness	9990	SLC12A6	OMIM:620068
HP:0001324	Muscle weakness	79152	FA2H	ORPHA:171629
HP:0001324	Muscle weakness	339855	KY	OMIM:617114
HP:0001324	Muscle weakness	3930	LBR	OMIM:169400
HP:0001324	Muscle weakness	9997	SCO2	ORPHA:521411
HP:0001324	Muscle weakness	1337	COX6A1	OMIM:616039
HP:0001324	Muscle weakness	2137	EXTL3	ORPHA:508533
HP:0001324	Muscle weakness	4137	MAPT	ORPHA:240094
HP:0001324	Muscle weakness	55775	TDP1	ORPHA:94124
HP:0001324	Muscle weakness	215	ABCD1	ORPHA:139399
HP:0001324	Muscle weakness	4547	MTTP	ORPHA:14
HP:0001324	Muscle weakness	55526	DHTKD1	OMIM:615025
HP:0001324	Muscle weakness	11117	EMILIN1	OMIM:620080
HP:0001324	Muscle weakness	55958	KLHL9	ORPHA:399081
HP:0001324	Muscle weakness	4703	NEB	ORPHA:399103
HP:0001324	Muscle weakness	3032	HADHB	ORPHA:746
HP:0001324	Muscle weakness	3030	HADHA	ORPHA:746
HP:0001324	Muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0001324	Muscle weakness	89910	UBE3B	ORPHA:2707
HP:0001324	Muscle weakness	1278	COL1A2	ORPHA:1899
HP:0001324	Muscle weakness	50964	SOST	OMIM:269500
HP:0001324	Muscle weakness	50964	SOST	ORPHA:3416
HP:0001324	Muscle weakness	50964	SOST	ORPHA:3152
HP:0001324	Muscle weakness	22827	PUF60	ORPHA:508498
HP:0001324	Muscle weakness	2138	EYA1	OMIM:113650
HP:0001324	Muscle weakness	2138	EYA1	ORPHA:107
HP:0001324	Muscle weakness	2138	EYA1	ORPHA:52429
HP:0001324	Muscle weakness	6495	SIX1	OMIM:113650
HP:0001324	Muscle weakness	6495	SIX1	ORPHA:107
HP:0001324	Muscle weakness	6495	SIX1	ORPHA:52429
HP:0001324	Muscle weakness	56172	ANKH	ORPHA:1522
HP:0001324	Muscle weakness	56172	ANKH	OMIM:123000
HP:0001324	Muscle weakness	10312	TCIRG1	OMIM:259700
HP:0001324	Muscle weakness	57167	SALL4	OMIM:607323
HP:0001324	Muscle weakness	79581	SLC52A2	OMIM:614707
HP:0001324	Muscle weakness	29887	SNX10	OMIM:615085
HP:0001324	Muscle weakness	29998	BICRA	OMIM:619325
HP:0001324	Muscle weakness	9790	BMS1	ORPHA:1114
HP:0001324	Muscle weakness	10054	UBA2	ORPHA:1114
HP:0001324	Muscle weakness	3691	ITGB4	ORPHA:1114
HP:0001324	Muscle weakness	54567	DLL4	ORPHA:1114
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:3416
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:2790
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:178377
HP:0001324	Muscle weakness	9723	SEMA3E	ORPHA:138
HP:0001324	Muscle weakness	5980	REV3L	ORPHA:570
HP:0001324	Muscle weakness	23129	PLXND1	ORPHA:570
HP:0001324	Muscle weakness	10735	STAG2	OMIM:301022
HP:0001324	Muscle weakness	10381	TUBB3	OMIM:600638
HP:0001324	Muscle weakness	7020	TFAP2A	OMIM:113620
HP:0001324	Muscle weakness	139285	AMER1	ORPHA:2780
HP:0001324	Muscle weakness	139285	AMER1	OMIM:300373
HP:0001324	Muscle weakness	9244	CRLF1	OMIM:272430
HP:0001324	Muscle weakness	84617	TUBB6	OMIM:617732
HP:0001324	Muscle weakness	9791	PTDSS1	ORPHA:2658
HP:0001324	Muscle weakness	3211	HOXB1	OMIM:614744
HP:0001324	Muscle weakness	8085	KMT2D	OMIM:620186
HP:0001324	Muscle weakness	80704	SLC19A3	OMIM:607483
HP:0001324	Muscle weakness	147912	SIX5	ORPHA:107
HP:0001324	Muscle weakness	2934	GSN	ORPHA:85448
HP:0001324	Muscle weakness	23516	SLC39A14	OMIM:144755
HP:0001324	Muscle weakness	1186	CLCN7	OMIM:166600
HP:0001324	Muscle weakness	1186	CLCN7	OMIM:611490
HP:0001324	Muscle weakness	1186	CLCN7	ORPHA:53
HP:0001324	Muscle weakness	84168	ANTXR1	OMIM:230740
HP:0001324	Muscle weakness	64127	NOD2	ORPHA:90340
HP:0001324	Muscle weakness	29089	UBE2T	OMIM:616435
HP:0001324	Muscle weakness	1861	TOR1A	OMIM:128100
HP:0001324	Muscle weakness	1757	SARDH	ORPHA:3129
HP:0001324	Muscle weakness	4556	MT-TE	ORPHA:2596
HP:0001324	Muscle weakness	11198	SUPT16H	OMIM:619480
HP:0001324	Muscle weakness	7516	XRCC2	OMIM:617247
HP:0001324	Muscle weakness	51305	KCNK9	ORPHA:166108
HP:0001324	Muscle weakness	9562	MINPP1	ORPHA:284339
HP:0001324	Muscle weakness	81545	FBXO38	OMIM:615575
HP:0001324	Muscle weakness	8291	DYSF	ORPHA:45448
HP:0001324	Muscle weakness	122622	ADSS1	ORPHA:482601
HP:0001324	Muscle weakness	9927	MFN2	ORPHA:99947
HP:0001324	Muscle weakness	10585	POMT1	ORPHA:86812
HP:0001324	Muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0001324	Muscle weakness	4038	LRP4	ORPHA:98913
HP:0001324	Muscle weakness	1145	CHRNE	ORPHA:98913
HP:0001324	Muscle weakness	4593	MUSK	ORPHA:98913
HP:0001324	Muscle weakness	5913	RAPSN	ORPHA:98913
HP:0001324	Muscle weakness	221264	AK9	ORPHA:98913
HP:0001324	Muscle weakness	285489	DOK7	ORPHA:98913
HP:0001324	Muscle weakness	182	JAG1	OMIM:619574
HP:0001324	Muscle weakness	57863	CADM3	OMIM:619519
HP:0001324	Muscle weakness	4771	NF2	ORPHA:637
HP:0001324	Muscle weakness	11155	LDB3	ORPHA:98912
HP:0001324	Muscle weakness	5351	PLOD1	ORPHA:1900
HP:0009016	Upper limb muscle hypoplasia	57167	SALL4	OMIM:607323
HP:0009017	Loss of gluteal subcutaneous adipose tissue	63924	CIDEC	ORPHA:435651
HP:0009017	Loss of gluteal subcutaneous adipose tissue	3991	LIPE	ORPHA:435660
HP:0009017	Loss of gluteal subcutaneous adipose tissue	5346	PLIN1	ORPHA:280356
HP:0009017	Loss of gluteal subcutaneous adipose tissue	5468	PPARG	OMIM:604367
HP:0009019	Progressive loss of facial adipose tissue	84823	LMNB2	OMIM:608709
HP:0012070	Chondroitin sulfate excretion in urine	2720	GLB1	OMIM:253010
HP:0012070	Chondroitin sulfate excretion in urine	2588	GALNS	OMIM:253000
HP:0012070	Chondroitin sulfate excretion in urine	55768	NGLY1	OMIM:615273
HP:0012071	Abnormal circulating acetylcarnitine concentration	283209	PGM2L1	OMIM:620191
HP:0012071	Abnormal circulating acetylcarnitine concentration	3033	HADH	ORPHA:71212
HP:0012071	Abnormal circulating acetylcarnitine concentration	25974	MMACHC	ORPHA:79282
HP:0012071	Abnormal circulating acetylcarnitine concentration	84693	MCEE	OMIM:251120
HP:0012071	Abnormal circulating acetylcarnitine concentration	55788	LMBRD1	OMIM:277380
HP:0012071	Abnormal circulating acetylcarnitine concentration	5826	ABCD4	OMIM:614857
HP:0012071	Abnormal circulating acetylcarnitine concentration	51241	COX16	OMIM:619355
HP:0012071	Abnormal circulating acetylcarnitine concentration	23474	ETHE1	OMIM:602473
HP:0012071	Abnormal circulating acetylcarnitine concentration	35	ACADS	ORPHA:26792
HP:0012071	Abnormal circulating acetylcarnitine concentration	55065	SLC52A1	OMIM:615026
HP:0012071	Abnormal circulating acetylcarnitine concentration	128989	TANGO2	OMIM:616878
HP:0012071	Abnormal circulating acetylcarnitine concentration	128989	TANGO2	ORPHA:480864
HP:0012071	Abnormal circulating acetylcarnitine concentration	1376	CPT2	ORPHA:228302
HP:0012071	Abnormal circulating acetylcarnitine concentration	1376	CPT2	ORPHA:228305
HP:0012071	Abnormal circulating acetylcarnitine concentration	1376	CPT2	ORPHA:228308
HP:0012071	Abnormal circulating acetylcarnitine concentration	90624	LYRM7	OMIM:615838
HP:0012071	Abnormal circulating acetylcarnitine concentration	28976	ACAD9	ORPHA:99901
HP:0012071	Abnormal circulating acetylcarnitine concentration	3030	HADHA	OMIM:609015
HP:0012071	Abnormal circulating acetylcarnitine concentration	788	SLC25A20	ORPHA:159
HP:0012071	Abnormal circulating acetylcarnitine concentration	27034	ACAD8	ORPHA:79159
HP:0012072	Aciduria	5095	PCCA	ORPHA:35
HP:0012072	Aciduria	5096	PCCB	ORPHA:35
HP:0012072	Aciduria	283209	PGM2L1	OMIM:620191
HP:0012072	Aciduria	56922	MCCC1	ORPHA:6
HP:0012072	Aciduria	64087	MCCC2	ORPHA:6
HP:0012072	Aciduria	64087	MCCC2	OMIM:210210
HP:0012072	Aciduria	5442	POLRMT	OMIM:619743
HP:0012072	Aciduria	291	SLC25A4	OMIM:617184
HP:0012072	Aciduria	51660	MPC1	OMIM:614741
HP:0012072	Aciduria	80308	FLAD1	OMIM:255100
HP:0012072	Aciduria	133686	NADK2	ORPHA:431361
HP:0012072	Aciduria	3141	HLCS	OMIM:253270
HP:0012072	Aciduria	3141	HLCS	ORPHA:79242
HP:0012072	Aciduria	686	BTD	OMIM:253260
HP:0012072	Aciduria	686	BTD	ORPHA:79241
HP:0012072	Aciduria	60386	SLC25A19	ORPHA:99742
HP:0012072	Aciduria	79581	SLC52A2	OMIM:614707
HP:0012072	Aciduria	2628	GATM	OMIM:612718
HP:0012072	Aciduria	79783	SUGCT	ORPHA:35706
HP:0012072	Aciduria	79783	SUGCT	OMIM:231690
HP:0012072	Aciduria	2639	GCDH	ORPHA:25
HP:0012072	Aciduria	2639	GCDH	OMIM:231670
HP:0012072	Aciduria	728294	D2HGDH	OMIM:600721
HP:0012072	Aciduria	3155	HMGCL	OMIM:246450
HP:0012072	Aciduria	2108	ETFA	OMIM:231680
HP:0012072	Aciduria	2109	ETFB	OMIM:231680
HP:0012072	Aciduria	2110	ETFDH	OMIM:231680
HP:0012072	Aciduria	10861	SLC26A1	OMIM:167030
HP:0012072	Aciduria	189	AGXT	OMIM:259900
HP:0012072	Aciduria	189	AGXT	ORPHA:93598
HP:0012072	Aciduria	9380	GRHPR	OMIM:260000
HP:0012072	Aciduria	9380	GRHPR	ORPHA:93599
HP:0012072	Aciduria	5189	PEX1	OMIM:601539
HP:0012072	Aciduria	112817	HOGA1	OMIM:613616
HP:0012072	Aciduria	112817	HOGA1	ORPHA:93600
HP:0012072	Aciduria	6898	TAT	OMIM:276600
HP:0012072	Aciduria	7019	TFAM	OMIM:617156
HP:0012072	Aciduria	37	ACADVL	OMIM:201475
HP:0012072	Aciduria	3033	HADH	OMIM:231530
HP:0012072	Aciduria	3033	HADH	ORPHA:71212
HP:0012072	Aciduria	1374	CPT1A	OMIM:255120
HP:0012072	Aciduria	55065	SLC52A1	OMIM:615026
HP:0012072	Aciduria	788	SLC25A20	OMIM:212138
HP:0012072	Aciduria	788	SLC25A20	ORPHA:159
HP:0012072	Aciduria	28976	ACAD9	OMIM:611126
HP:0012072	Aciduria	28976	ACAD9	ORPHA:99901
HP:0012072	Aciduria	5195	PEX14	OMIM:614887
HP:0012072	Aciduria	27034	ACAD8	ORPHA:79159
HP:0012072	Aciduria	6584	SLC22A5	OMIM:212140
HP:0012072	Aciduria	23474	ETHE1	ORPHA:51188
HP:0012072	Aciduria	23474	ETHE1	OMIM:602473
HP:0012072	Aciduria	3329	HSPD1	OMIM:612233
HP:0012072	Aciduria	8802	SUCLG1	OMIM:245400
HP:0012072	Aciduria	100303755	PET117	OMIM:619063
HP:0012072	Aciduria	55863	TMEM126B	OMIM:618250
HP:0012072	Aciduria	4535	MT-ND1	ORPHA:255210
HP:0012072	Aciduria	4536	MT-ND2	ORPHA:255210
HP:0012072	Aciduria	4537	MT-ND3	ORPHA:255210
HP:0012072	Aciduria	4538	MT-ND4	ORPHA:255210
HP:0012072	Aciduria	4567	MT-TL1	ORPHA:255210
HP:0012072	Aciduria	4578	MT-TW	ORPHA:255210
HP:0012072	Aciduria	4577	MT-TV	ORPHA:255210
HP:0012072	Aciduria	4508	MT-ATP6	ORPHA:255210
HP:0012072	Aciduria	4540	MT-ND5	ORPHA:255210
HP:0012072	Aciduria	4541	MT-ND6	ORPHA:255210
HP:0012072	Aciduria	4566	MT-TK	ORPHA:255210
HP:0012072	Aciduria	197257	LDHD	OMIM:245450
HP:0012072	Aciduria	4704	NDUFA9	OMIM:618247
HP:0012072	Aciduria	57128	LYRM4	OMIM:615595
HP:0012072	Aciduria	51601	LIPT1	OMIM:616299
HP:0012072	Aciduria	9054	NFS1	OMIM:619386
HP:0012072	Aciduria	6392	SDHD	OMIM:619167
HP:0012072	Aciduria	89874	SLC25A21	OMIM:618811
HP:0012072	Aciduria	617	BCS1L	OMIM:124000
HP:0012072	Aciduria	54704	PDP1	ORPHA:79246
HP:0012072	Aciduria	91647	ATPAF2	OMIM:604273
HP:0012072	Aciduria	4724	NDUFS4	OMIM:252010
HP:0012072	Aciduria	51241	COX16	OMIM:619355
HP:0012072	Aciduria	55687	TRMU	OMIM:613070
HP:0012072	Aciduria	1376	CPT2	OMIM:608836
HP:0012072	Aciduria	34	ACADM	OMIM:201450
HP:0012072	Aciduria	23095	KIF1B	OMIM:256700
HP:0012072	Aciduria	6571	SLC18A2	OMIM:618049
HP:0012072	Aciduria	5979	RET	OMIM:171400
HP:0012072	Aciduria	5428	POLG	OMIM:203700
HP:0012072	Aciduria	51116	MRPS2	OMIM:617950
HP:0012072	Aciduria	197322	ACSF3	OMIM:614265
HP:0012072	Aciduria	197322	ACSF3	ORPHA:289504
HP:0012072	Aciduria	119559	SFXN4	OMIM:615578
HP:0012072	Aciduria	25974	MMACHC	ORPHA:79282
HP:0012072	Aciduria	25974	MMACHC	OMIM:277400
HP:0012072	Aciduria	3054	HCFC1	OMIM:309541
HP:0012072	Aciduria	6948	TCN2	OMIM:275350
HP:0012072	Aciduria	6948	TCN2	ORPHA:859
HP:0012072	Aciduria	55788	LMBRD1	ORPHA:79284
HP:0012072	Aciduria	55788	LMBRD1	OMIM:277380
HP:0012072	Aciduria	27249	MMADHC	OMIM:277410
HP:0012072	Aciduria	4594	MMUT	OMIM:251000
HP:0012072	Aciduria	84693	MCEE	OMIM:251120
HP:0012072	Aciduria	4552	MTRR	OMIM:236270
HP:0012072	Aciduria	8803	SUCLA2	OMIM:612073
HP:0012072	Aciduria	8803	SUCLA2	ORPHA:1933
HP:0012072	Aciduria	51293	CD320	OMIM:613646
HP:0012072	Aciduria	5826	ABCD4	OMIM:614857
HP:0012072	Aciduria	4548	MTR	OMIM:250940
HP:0012072	Aciduria	326625	MMAB	OMIM:251110
HP:0012072	Aciduria	5052	PRDX1	OMIM:277400
HP:0012072	Aciduria	5498	PPOX	OMIM:176200
HP:0012072	Aciduria	5498	PPOX	ORPHA:79473
HP:0012072	Aciduria	3077	HFE	OMIM:176200
HP:0012072	Aciduria	1371	CPOX	ORPHA:79273
HP:0012072	Aciduria	1371	CPOX	OMIM:121300
HP:0012072	Aciduria	1371	CPOX	OMIM:618892
HP:0012072	Aciduria	210	ALAD	ORPHA:100924
HP:0012072	Aciduria	3145	HMBS	ORPHA:79276
HP:0012072	Aciduria	7390	UROS	ORPHA:79277
HP:0012072	Aciduria	2623	GATA1	ORPHA:79277
HP:0012072	Aciduria	131669	UROC1	OMIM:276880
HP:0012072	Aciduria	131669	UROC1	ORPHA:210128
HP:0012072	Aciduria	3418	IDH2	OMIM:613657
HP:0012072	Aciduria	3417	IDH1	ORPHA:99646
HP:0012072	Aciduria	54914	FOCAD	OMIM:619991
HP:0012072	Aciduria	4716	NDUFB10	OMIM:619003
HP:0012072	Aciduria	7915	ALDH5A1	OMIM:271980
HP:0012072	Aciduria	4598	MVK	OMIM:260920
HP:0012072	Aciduria	4598	MVK	OMIM:610377
HP:0012072	Aciduria	2271	FH	OMIM:606812
HP:0012072	Aciduria	6341	SCO1	OMIM:619048
HP:0012072	Aciduria	6576	SLC25A1	OMIM:615182
HP:0012072	Aciduria	64849	SLC13A3	OMIM:618384
HP:0012072	Aciduria	763	CA5A	OMIM:615751
HP:0012072	Aciduria	23417	MLYCD	OMIM:248360
HP:0012072	Aciduria	36	ACADSB	OMIM:610006
HP:0012072	Aciduria	3081	HGD	OMIM:203500
HP:0012072	Aciduria	3242	HPD	OMIM:140350
HP:0012072	Aciduria	5053	PAH	OMIM:261600
HP:0012072	Aciduria	55526	DHTKD1	OMIM:204750
HP:0012072	Aciduria	166785	MMAA	OMIM:251100
HP:0012072	Aciduria	10841	FTCD	OMIM:229100
HP:0012072	Aciduria	79944	L2HGDH	OMIM:236792
HP:0012072	Aciduria	4329	ALDH6A1	OMIM:614105
HP:0012072	Aciduria	5019	OXCT1	OMIM:245050
HP:0012072	Aciduria	35	ACADS	ORPHA:26792
HP:0012072	Aciduria	27247	NFU1	OMIM:605711
HP:0012072	Aciduria	3954	LETM1	OMIM:620089
HP:0012074	Tonic pupil	9692	PRORP	OMIM:619737
HP:0012074	Tonic pupil	5376	PMP22	ORPHA:90658
HP:0012074	Tonic pupil	4359	MPZ	OMIM:118200
HP:0012075	Personality disorder	57582	KCNT1	OMIM:615005
HP:0012075	Personality disorder	1593	CYP27A1	ORPHA:909
HP:0012075	Personality disorder	51324	SPG21	ORPHA:101001
HP:0012075	Personality disorder	1813	DRD2	ORPHA:36899
HP:0012075	Personality disorder	8910	SGCE	ORPHA:36899
HP:0012075	Personality disorder	79734	KCTD17	ORPHA:36899
HP:0012075	Personality disorder	1861	TOR1A	ORPHA:36899
HP:0012075	Personality disorder	875	CBS	OMIM:236200
HP:0012075	Personality disorder	7504	XK	OMIM:300842
HP:0012075	Personality disorder	1759	DNM1	ORPHA:2382
HP:0012075	Personality disorder	2562	GABRB3	ORPHA:2382
HP:0012075	Personality disorder	5602	MAPK10	ORPHA:2382
HP:0012075	Personality disorder	773	CACNA1A	ORPHA:2382
HP:0012075	Personality disorder	6323	SCN1A	ORPHA:2382
HP:0012075	Personality disorder	23316	CUX2	ORPHA:2382
HP:0012075	Personality disorder	1106	CHD2	ORPHA:2382
HP:0012075	Personality disorder	6095	RORA	OMIM:618060
HP:0012075	Personality disorder	51322	WAC	ORPHA:466950
HP:0012076	Borderline personality disorder	6095	RORA	OMIM:618060
HP:0012076	Borderline personality disorder	51322	WAC	ORPHA:466950
HP:0012078	Motor conduction block	54332	GDAP1	ORPHA:99948
HP:0012078	Motor conduction block	3098	HK1	ORPHA:99953
HP:0012079	Abnormality of central motor conduction	5428	POLG	ORPHA:94125
HP:0012079	Abnormality of central motor conduction	126129	CPT1C	OMIM:616282
HP:0009020	Exercise-induced muscle fatigue	270	AMPD1	ORPHA:45
HP:0009020	Exercise-induced muscle fatigue	272	AMPD3	ORPHA:45
HP:0009020	Exercise-induced muscle fatigue	5213	PFKM	OMIM:232800
HP:0009020	Exercise-induced muscle fatigue	1621	DBH	ORPHA:230
HP:0009020	Exercise-induced muscle fatigue	6329	SCN4A	ORPHA:681
HP:0009020	Exercise-induced muscle fatigue	779	CACNA1S	ORPHA:681
HP:0009020	Exercise-induced muscle fatigue	779	CACNA1S	ORPHA:79102
HP:0009020	Exercise-induced muscle fatigue	10008	KCNE3	ORPHA:681
HP:0009020	Exercise-induced muscle fatigue	5230	PGK1	ORPHA:713
HP:0009020	Exercise-induced muscle fatigue	6566	SLC16A1	OMIM:245340
HP:0009020	Exercise-induced muscle fatigue	100134444	KCNJ18	ORPHA:79102
HP:0009020	Exercise-induced muscle fatigue	2556	GABRA3	ORPHA:79102
HP:0009020	Exercise-induced muscle fatigue	60684	TRAPPC11	ORPHA:369847
HP:0009063	Progressive distal muscle weakness	79784	MYH14	ORPHA:397744
HP:0009063	Progressive distal muscle weakness	55958	KLHL9	ORPHA:399081
HP:0009063	Progressive distal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0009063	Progressive distal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0009063	Progressive distal muscle weakness	4703	NEB	ORPHA:399103
HP:0009063	Progressive distal muscle weakness	859	CAV3	ORPHA:488650
HP:0009063	Progressive distal muscle weakness	3032	HADHB	ORPHA:746
HP:0009063	Progressive distal muscle weakness	3030	HADHA	ORPHA:746
HP:0009063	Progressive distal muscle weakness	9499	MYOT	ORPHA:98911
HP:0009063	Progressive distal muscle weakness	9499	MYOT	OMIM:609200
HP:0009063	Progressive distal muscle weakness	59341	TRPV4	OMIM:181405
HP:0009063	Progressive distal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	11155	LDB3	OMIM:609452
HP:0009023	Abdominal wall muscle weakness	6497	SKI	OMIM:182212
HP:0009023	Abdominal wall muscle weakness	2992	GYG1	ORPHA:263297
HP:0009023	Abdominal wall muscle weakness	1594	CYP27B1	OMIM:264700
HP:0009023	Abdominal wall muscle weakness	3178	HNRNPA1	OMIM:615424
HP:0009023	Abdominal wall muscle weakness	7421	VDR	OMIM:277440
HP:0009023	Abdominal wall muscle weakness	311	ANXA11	OMIM:619733
HP:0009023	Abdominal wall muscle weakness	825	CAPN3	OMIM:618129
HP:0009023	Abdominal wall muscle weakness	9091	PIGQ	OMIM:618548
HP:0009023	Abdominal wall muscle weakness	5728	PTEN	ORPHA:109
HP:0009023	Abdominal wall muscle weakness	5605	MAP2K2	ORPHA:638
HP:0009023	Abdominal wall muscle weakness	4763	NF1	ORPHA:638
HP:0009023	Abdominal wall muscle weakness	2483	FRG1	OMIM:158900
HP:0009023	Abdominal wall muscle weakness	23347	SMCHD1	OMIM:158901
HP:0009023	Abdominal wall muscle weakness	4625	MYH7	ORPHA:437572
HP:0009025	Increased connective tissue	400916	CHCHD10	ORPHA:276435
HP:0009025	Increased connective tissue	3991	LIPE	ORPHA:435660
HP:0009025	Increased connective tissue	4000	LMNA	ORPHA:280365
HP:0009025	Increased connective tissue	4000	LMNA	OMIM:151660
HP:0009025	Increased connective tissue	208	AKT2	ORPHA:79085
HP:0009025	Increased connective tissue	11128	POLR3A	ORPHA:3455
HP:0009025	Increased connective tissue	9131	AIFM1	ORPHA:238329
HP:0009025	Increased connective tissue	7148	TNXB	OMIM:606408
HP:0009025	Increased connective tissue	8557	TCAP	OMIM:601954
HP:0009025	Increased connective tissue	58	ACTA1	ORPHA:171430
HP:0009025	Increased connective tissue	58	ACTA1	OMIM:616852
HP:0009025	Increased connective tissue	4703	NEB	ORPHA:171430
HP:0009025	Increased connective tissue	131377	KLHL40	ORPHA:171430
HP:0009025	Increased connective tissue	10324	KLHL41	ORPHA:171430
HP:0009025	Increased connective tissue	56203	LMOD3	ORPHA:171430
HP:0009025	Increased connective tissue	5339	PLEC	OMIM:226670
HP:0009025	Increased connective tissue	6261	RYR1	OMIM:255320
HP:0009025	Increased connective tissue	6261	RYR1	ORPHA:98905
HP:0009025	Increased connective tissue	8291	DYSF	OMIM:253601
HP:0009025	Increased connective tissue	4747	NEFL	OMIM:607684
HP:0009025	Increased connective tissue	55679	LIMS2	OMIM:616827
HP:0009025	Increased connective tissue	7390	UROS	ORPHA:79277
HP:0009025	Increased connective tissue	2623	GATA1	ORPHA:79277
HP:0009025	Increased connective tissue	203859	ANO5	OMIM:611307
HP:0009025	Increased connective tissue	3908	LAMA2	ORPHA:258
HP:0009025	Increased connective tissue	5122	PCSK1	ORPHA:71528
HP:0009025	Increased connective tissue	51763	INPP5K	OMIM:617404
HP:0009025	Increased connective tissue	4160	MC4R	ORPHA:71529
HP:0009025	Increased connective tissue	5443	POMC	ORPHA:71526
HP:0009025	Increased connective tissue	4566	MT-TK	ORPHA:1349
HP:0009028	Generalized weakness of limb muscles	29925	GMPPB	ORPHA:353327
HP:0009028	Generalized weakness of limb muscles	2673	GFPT1	ORPHA:353327
HP:0009028	Generalized weakness of limb muscles	1798	DPAGT1	ORPHA:353327
HP:0009028	Generalized weakness of limb muscles	85365	ALG2	ORPHA:353327
HP:0009028	Generalized weakness of limb muscles	199857	ALG14	ORPHA:353327
HP:0012081	Enlarged cerebellum	9839	ZEB2	ORPHA:261537
HP:0012081	Enlarged cerebellum	9839	ZEB2	ORPHA:261552
HP:0012081	Enlarged cerebellum	2261	FGFR3	ORPHA:85165
HP:0012081	Enlarged cerebellum	10015	PDCD6IP	OMIM:620047
HP:0012081	Enlarged cerebellum	3265	HRAS	OMIM:218040
HP:0012081	Enlarged cerebellum	23028	KDM1A	ORPHA:477993
HP:0012081	Enlarged cerebellum	5728	PTEN	ORPHA:65285
HP:0012081	Enlarged cerebellum	29998	BICRA	OMIM:619325
HP:0012082	Cerebellar Purkinje layer atrophy	6311	ATXN2	ORPHA:98756
HP:0012082	Cerebellar Purkinje layer atrophy	6908	TBP	ORPHA:98759
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	3178	HNRNPA1	ORPHA:52430
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	7415	VCP	ORPHA:52430
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	3181	HNRNPA2B1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	9131	AIFM1	ORPHA:238329
HP:0012084	Abnormality of skeletal muscle fiber size	353116	RILPL1	OMIM:619790
HP:0012084	Abnormality of skeletal muscle fiber size	1291	COL6A1	OMIM:254090
HP:0012084	Abnormality of skeletal muscle fiber size	1291	COL6A1	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	1292	COL6A2	OMIM:254090
HP:0012084	Abnormality of skeletal muscle fiber size	1292	COL6A2	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	1293	COL6A3	OMIM:254090
HP:0012084	Abnormality of skeletal muscle fiber size	1293	COL6A3	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	57128	LYRM4	OMIM:615595
HP:0012084	Abnormality of skeletal muscle fiber size	79188	TMEM43	OMIM:614302
HP:0012084	Abnormality of skeletal muscle fiber size	9782	MATR3	OMIM:606070
HP:0012084	Abnormality of skeletal muscle fiber size	1305	COL13A1	OMIM:616720
HP:0012084	Abnormality of skeletal muscle fiber size	1410	CRYAB	ORPHA:399058
HP:0012084	Abnormality of skeletal muscle fiber size	6606	SMN1	OMIM:271150
HP:0012084	Abnormality of skeletal muscle fiber size	8291	DYSF	OMIM:253601
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:258450
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:157640
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	ORPHA:70595
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:607459
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	OMIM:256030
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	OMIM:619334
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	6442	SGCA	OMIM:608099
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	OMIM:616471
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	OMIM:616470
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	ORPHA:536516
HP:0012084	Abnormality of skeletal muscle fiber size	9499	MYOT	ORPHA:266
HP:0012084	Abnormality of skeletal muscle fiber size	2617	GARS1	OMIM:619042
HP:0012084	Abnormality of skeletal muscle fiber size	54344	DPM3	OMIM:618992
HP:0012084	Abnormality of skeletal muscle fiber size	54344	DPM3	OMIM:612937
HP:0012084	Abnormality of skeletal muscle fiber size	58	ACTA1	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	58	ACTA1	OMIM:616852
HP:0012084	Abnormality of skeletal muscle fiber size	58	ACTA1	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	10324	KLHL41	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	10324	KLHL41	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	56203	LMOD3	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	1073	CFL2	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	91754	NEK9	OMIM:617022
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	ORPHA:178464
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:608807
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	ORPHA:609
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:603689
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:611705
HP:0012084	Abnormality of skeletal muscle fiber size	3714	JAG2	OMIM:619566
HP:0012084	Abnormality of skeletal muscle fiber size	84466	MEGF10	OMIM:614399
HP:0012084	Abnormality of skeletal muscle fiber size	10730	YME1L1	OMIM:617302
HP:0012084	Abnormality of skeletal muscle fiber size	4976	OPA1	OMIM:125250
HP:0012084	Abnormality of skeletal muscle fiber size	22954	TRIM32	ORPHA:1878
HP:0012084	Abnormality of skeletal muscle fiber size	22954	TRIM32	OMIM:254110
HP:0012084	Abnormality of skeletal muscle fiber size	7125	TNNC2	OMIM:620161
HP:0012084	Abnormality of skeletal muscle fiber size	1185	CLCN6	OMIM:619173
HP:0012084	Abnormality of skeletal muscle fiber size	57190	SELENON	OMIM:602771
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300696
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300718
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300717
HP:0012084	Abnormality of skeletal muscle fiber size	55154	MSTO1	OMIM:617675
HP:0012084	Abnormality of skeletal muscle fiber size	55154	MSTO1	ORPHA:502423
HP:0012084	Abnormality of skeletal muscle fiber size	8878	SQSTM1	OMIM:617158
HP:0012084	Abnormality of skeletal muscle fiber size	84665	MYPN	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	84665	MYPN	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	7170	TPM3	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	7170	TPM3	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	23345	SYNE1	OMIM:618484
HP:0012084	Abnormality of skeletal muscle fiber size	146862	UNC45B	OMIM:619178
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	OMIM:255320
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	OMIM:117000
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	ORPHA:98905
HP:0012084	Abnormality of skeletal muscle fiber size	859	CAV3	OMIM:614321
HP:0012084	Abnormality of skeletal muscle fiber size	859	CAV3	ORPHA:488650
HP:0012084	Abnormality of skeletal muscle fiber size	191	AHCY	OMIM:613752
HP:0012084	Abnormality of skeletal muscle fiber size	311	ANXA11	OMIM:619733
HP:0012084	Abnormality of skeletal muscle fiber size	51008	ASCC1	OMIM:616867
HP:0012084	Abnormality of skeletal muscle fiber size	825	CAPN3	OMIM:618129
HP:0012084	Abnormality of skeletal muscle fiber size	57211	ADGRG6	OMIM:616503
HP:0012084	Abnormality of skeletal muscle fiber size	85365	ALG2	OMIM:616228
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	OMIM:616866
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	OMIM:617066
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	ORPHA:486815
HP:0012084	Abnormality of skeletal muscle fiber size	6445	SGCG	OMIM:253700
HP:0012084	Abnormality of skeletal muscle fiber size	6445	SGCG	ORPHA:353
HP:0012084	Abnormality of skeletal muscle fiber size	2218	FKTN	OMIM:611615
HP:0012084	Abnormality of skeletal muscle fiber size	29967	LRP12	OMIM:164310
HP:0012084	Abnormality of skeletal muscle fiber size	10020	GNE	ORPHA:602
HP:0012084	Abnormality of skeletal muscle fiber size	8604	SLC25A12	OMIM:612949
HP:0012084	Abnormality of skeletal muscle fiber size	10049	DNAJB6	ORPHA:34516
HP:0012084	Abnormality of skeletal muscle fiber size	4620	MYH2	OMIM:605637
HP:0012084	Abnormality of skeletal muscle fiber size	10367	MICU1	ORPHA:401768
HP:0012084	Abnormality of skeletal muscle fiber size	8557	TCAP	OMIM:601954
HP:0012084	Abnormality of skeletal muscle fiber size	88	ACTN2	OMIM:618654
HP:0012084	Abnormality of skeletal muscle fiber size	88	ACTN2	OMIM:618655
HP:0012084	Abnormality of skeletal muscle fiber size	4697	NDUFA4	OMIM:619065
HP:0012084	Abnormality of skeletal muscle fiber size	127833	SYT2	OMIM:619461
HP:0012084	Abnormality of skeletal muscle fiber size	8802	SUCLG1	ORPHA:17
HP:0012084	Abnormality of skeletal muscle fiber size	3178	HNRNPA1	OMIM:615424
HP:0012084	Abnormality of skeletal muscle fiber size	3178	HNRNPA1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	3908	LAMA2	OMIM:618138
HP:0012084	Abnormality of skeletal muscle fiber size	4632	MYL1	OMIM:618414
HP:0012084	Abnormality of skeletal muscle fiber size	9997	SCO2	OMIM:604377
HP:0012084	Abnormality of skeletal muscle fiber size	79784	MYH14	ORPHA:397744
HP:0012084	Abnormality of skeletal muscle fiber size	10755	GIPC1	OMIM:618940
HP:0012084	Abnormality of skeletal muscle fiber size	4625	MYH7	ORPHA:437572
HP:0012084	Abnormality of skeletal muscle fiber size	100996717	NOTCH2NLC	OMIM:619473
HP:0012084	Abnormality of skeletal muscle fiber size	4744	NEFH	OMIM:616924
HP:0012084	Abnormality of skeletal muscle fiber size	56652	TWNK	ORPHA:70595
HP:0012084	Abnormality of skeletal muscle fiber size	56652	TWNK	OMIM:607459
HP:0012084	Abnormality of skeletal muscle fiber size	10585	POMT1	ORPHA:86812
HP:0012084	Abnormality of skeletal muscle fiber size	4285	MIPEP	OMIM:617228
HP:0012084	Abnormality of skeletal muscle fiber size	226	ALDOA	OMIM:611881
HP:0012084	Abnormality of skeletal muscle fiber size	1605	DAG1	OMIM:616538
HP:0012084	Abnormality of skeletal muscle fiber size	11149	BVES	OMIM:616812
HP:0012084	Abnormality of skeletal muscle fiber size	51244	CCDC174	OMIM:616816
HP:0012084	Abnormality of skeletal muscle fiber size	7415	VCP	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	7415	VCP	OMIM:613954
HP:0012084	Abnormality of skeletal muscle fiber size	3181	HNRNPA2B1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	26092	TOR1AIP1	OMIM:617072
HP:0012084	Abnormality of skeletal muscle fiber size	29954	POMT2	OMIM:613150
HP:0012084	Abnormality of skeletal muscle fiber size	3798	KIF5A	OMIM:617235
HP:0012084	Abnormality of skeletal muscle fiber size	339855	KY	OMIM:617114
HP:0012084	Abnormality of skeletal muscle fiber size	5339	PLEC	OMIM:226670
HP:0012084	Abnormality of skeletal muscle fiber size	64208	POPDC3	OMIM:618848
HP:0012084	Abnormality of skeletal muscle fiber size	55624	POMGNT1	OMIM:613157
HP:0012084	Abnormality of skeletal muscle fiber size	5213	PFKM	OMIM:232800
HP:0012084	Abnormality of skeletal muscle fiber size	390594	KBTBD13	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	844	CASQ1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	84876	ORAI1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	6786	STIM1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	6786	STIM1	OMIM:160565
HP:0012084	Abnormality of skeletal muscle fiber size	779	CACNA1S	OMIM:620246
HP:0012084	Abnormality of skeletal muscle fiber size	1487	CTBP1	OMIM:617915
HP:0012084	Abnormality of skeletal muscle fiber size	23479	ISCU	OMIM:255125
HP:0012084	Abnormality of skeletal muscle fiber size	23676	SMPX	OMIM:301075
HP:0012084	Abnormality of skeletal muscle fiber size	1756	DMD	OMIM:302045
HP:0012084	Abnormality of skeletal muscle fiber size	57505	AARS2	OMIM:614096
HP:0012084	Abnormality of skeletal muscle fiber size	84842	HPDL	OMIM:619026
HP:0012084	Abnormality of skeletal muscle fiber size	51776	MAP3K20	OMIM:617760
HP:0012084	Abnormality of skeletal muscle fiber size	1140	CHRNB1	OMIM:616313
HP:0012084	Abnormality of skeletal muscle fiber size	3679	ITGA7	OMIM:613204
HP:0012084	Abnormality of skeletal muscle fiber size	284119	CAVIN1	OMIM:613327
HP:0012084	Abnormality of skeletal muscle fiber size	90523	MLIP	OMIM:620138
HP:0012084	Abnormality of skeletal muscle fiber size	23224	SYNE2	OMIM:612999
HP:0012084	Abnormality of skeletal muscle fiber size	6443	SGCB	ORPHA:119
HP:0012084	Abnormality of skeletal muscle fiber size	203859	ANO5	ORPHA:206549
HP:0012084	Abnormality of skeletal muscle fiber size	4534	MTM1	ORPHA:596
HP:0012084	Abnormality of skeletal muscle fiber size	4633	MYL2	OMIM:619424
HP:0012084	Abnormality of skeletal muscle fiber size	5468	PPARG	ORPHA:79083
HP:0012084	Abnormality of skeletal muscle fiber size	246329	STAC3	ORPHA:168572
HP:0012084	Abnormality of skeletal muscle fiber size	4000	LMNA	ORPHA:2348
HP:0012086	Abnormal urinary color	340024	SLC6A19	ORPHA:2116
HP:0012086	Abnormal urinary color	57393	CLTRN	ORPHA:2116
HP:0012086	Abnormal urinary color	1244	ABCC2	ORPHA:234
HP:0012086	Abnormal urinary color	7248	TSC1	ORPHA:538
HP:0012086	Abnormal urinary color	7249	TSC2	ORPHA:538
HP:0012086	Abnormal urinary color	1756	DMD	ORPHA:98895
HP:0012086	Abnormal urinary color	644	BLVRA	OMIM:614156
HP:0012086	Abnormal urinary color	286410	ATP11C	OMIM:301015
HP:0012086	Abnormal urinary color	5837	PYGM	OMIM:232600
HP:0012086	Abnormal urinary color	5837	PYGM	ORPHA:368
HP:0012086	Abnormal urinary color	1371	CPOX	ORPHA:79273
HP:0012086	Abnormal urinary color	23175	LPIN1	ORPHA:99845
HP:0012086	Abnormal urinary color	4512	MT-CO1	ORPHA:99845
HP:0012086	Abnormal urinary color	4514	MT-CO3	ORPHA:99845
HP:0012086	Abnormal urinary color	6775	STAT4	ORPHA:93552
HP:0012086	Abnormal urinary color	6696	SPP1	ORPHA:93552
HP:0012086	Abnormal urinary color	3654	IRAK1	ORPHA:93552
HP:0012086	Abnormal urinary color	3145	HMBS	ORPHA:79276
HP:0012086	Abnormal urinary color	79989	IFT56	OMIM:619534
HP:0012086	Abnormal urinary color	6718	AKR1D1	ORPHA:79303
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228302
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228305
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228308
HP:0012086	Abnormal urinary color	210	ALAD	ORPHA:100924
HP:0012086	Abnormal urinary color	7390	UROS	ORPHA:79277
HP:0012086	Abnormal urinary color	2623	GATA1	ORPHA:79277
HP:0012086	Abnormal urinary color	7389	UROD	ORPHA:95159
HP:0012087	Abnormal mitochondrial shape	56947	MFF	ORPHA:485421
HP:0012087	Abnormal mitochondrial shape	5250	SLC25A3	OMIM:610773
HP:0012087	Abnormal mitochondrial shape	8802	SUCLG1	ORPHA:17
HP:0012087	Abnormal mitochondrial shape	2232	FDXR	ORPHA:543470
HP:0012087	Abnormal mitochondrial shape	2271	FH	OMIM:606812
HP:0012087	Abnormal mitochondrial shape	55863	TMEM126B	OMIM:618250
HP:0012087	Abnormal mitochondrial shape	79784	MYH14	ORPHA:397744
HP:0012087	Abnormal mitochondrial shape	57128	LYRM4	OMIM:615595
HP:0012087	Abnormal mitochondrial shape	9453	GGPS1	OMIM:619518
HP:0012087	Abnormal mitochondrial shape	1120	CHKB	OMIM:602541
HP:0012089	Arteritis	10525	HYOU1	OMIM:233600
HP:0012089	Arteritis	7317	UBA1	OMIM:301054
HP:0002355	Difficulty walking	25792	CIZ1	ORPHA:420492
HP:0002355	Difficulty walking	3064	HTT	ORPHA:399
HP:0002355	Difficulty walking	6515	SLC2A3	ORPHA:399
HP:0002355	Difficulty walking	23769	FLRT1	ORPHA:320406
HP:0002355	Difficulty walking	64837	KLC2	ORPHA:320406
HP:0002355	Difficulty walking	91574	MTRFR	ORPHA:254930
HP:0002355	Difficulty walking	91574	MTRFR	OMIM:615035
HP:0002355	Difficulty walking	6834	SURF1	OMIM:616684
HP:0002355	Difficulty walking	57165	GJC2	ORPHA:320401
HP:0002355	Difficulty walking	8838	CCN6	OMIM:208230
HP:0002355	Difficulty walking	55532	SLC30A10	ORPHA:309854
HP:0002355	Difficulty walking	22880	MORC2	OMIM:616688
HP:0002355	Difficulty walking	22880	MORC2	ORPHA:466768
HP:0002355	Difficulty walking	1161	ERCC8	ORPHA:90324
HP:0002355	Difficulty walking	1161	ERCC8	ORPHA:90321
HP:0002355	Difficulty walking	1161	ERCC8	ORPHA:90322
HP:0002355	Difficulty walking	2074	ERCC6	ORPHA:90324
HP:0002355	Difficulty walking	2074	ERCC6	ORPHA:90321
HP:0002355	Difficulty walking	2074	ERCC6	ORPHA:90322
HP:0002355	Difficulty walking	80821	DDHD1	OMIM:609340
HP:0002355	Difficulty walking	1024	CDK8	OMIM:618748
HP:0002355	Difficulty walking	60684	TRAPPC11	OMIM:615356
HP:0002355	Difficulty walking	60684	TRAPPC11	ORPHA:369840
HP:0002355	Difficulty walking	60684	TRAPPC11	ORPHA:369847
HP:0002355	Difficulty walking	1593	CYP27A1	OMIM:213700
HP:0002355	Difficulty walking	825	CAPN3	OMIM:253600
HP:0002355	Difficulty walking	825	CAPN3	ORPHA:267
HP:0002355	Difficulty walking	2072	ERCC4	ORPHA:90321
HP:0002355	Difficulty walking	2067	ERCC1	ORPHA:90322
HP:0002355	Difficulty walking	200205	IBA57	ORPHA:468661
HP:0002355	Difficulty walking	58	ACTA1	ORPHA:171433
HP:0002355	Difficulty walking	58	ACTA1	ORPHA:171439
HP:0002355	Difficulty walking	4703	NEB	ORPHA:171433
HP:0002355	Difficulty walking	4703	NEB	ORPHA:171439
HP:0002355	Difficulty walking	10324	KLHL41	ORPHA:171433
HP:0002355	Difficulty walking	10324	KLHL41	ORPHA:171439
HP:0002355	Difficulty walking	7170	TPM3	ORPHA:171433
HP:0002355	Difficulty walking	7170	TPM3	ORPHA:171439
HP:0002355	Difficulty walking	5917	RARS1	ORPHA:438114
HP:0002355	Difficulty walking	6616	SNAP25	OMIM:616330
HP:0002355	Difficulty walking	6616	SNAP25	ORPHA:98914
HP:0002355	Difficulty walking	1763	DNA2	ORPHA:352470
HP:0002355	Difficulty walking	120227	CYP2R1	OMIM:600081
HP:0002355	Difficulty walking	120227	CYP2R1	ORPHA:289157
HP:0002355	Difficulty walking	81846	SBF2	OMIM:604563
HP:0002355	Difficulty walking	81846	SBF2	ORPHA:99956
HP:0002355	Difficulty walking	79147	FKRP	OMIM:607155
HP:0002355	Difficulty walking	79147	FKRP	OMIM:606612
HP:0002355	Difficulty walking	79147	FKRP	ORPHA:370980
HP:0002355	Difficulty walking	29925	GMPPB	ORPHA:353327
HP:0002355	Difficulty walking	2673	GFPT1	ORPHA:353327
HP:0002355	Difficulty walking	1798	DPAGT1	ORPHA:353327
HP:0002355	Difficulty walking	85365	ALG2	ORPHA:353327
HP:0002355	Difficulty walking	199857	ALG14	ORPHA:353327
HP:0002355	Difficulty walking	199857	ALG14	OMIM:616227
HP:0002355	Difficulty walking	410	ARSA	ORPHA:309271
HP:0002355	Difficulty walking	5660	PSAP	ORPHA:309271
HP:0002355	Difficulty walking	6444	SGCD	OMIM:601287
HP:0002355	Difficulty walking	60482	SLC5A7	OMIM:158580
HP:0002355	Difficulty walking	60482	SLC5A7	ORPHA:98914
HP:0002355	Difficulty walking	55154	MSTO1	OMIM:617675
HP:0002355	Difficulty walking	55154	MSTO1	ORPHA:502423
HP:0002355	Difficulty walking	215	ABCD1	ORPHA:139396
HP:0002355	Difficulty walking	84876	ORAI1	OMIM:612782
HP:0002355	Difficulty walking	1759	DNM1	OMIM:616346
HP:0002355	Difficulty walking	1759	DNM1	ORPHA:442835
HP:0002355	Difficulty walking	81857	MED25	ORPHA:464738
HP:0002355	Difficulty walking	55157	DARS2	ORPHA:137898
HP:0002355	Difficulty walking	7273	TTN	ORPHA:609
HP:0002355	Difficulty walking	7273	TTN	OMIM:603689
HP:0002355	Difficulty walking	8878	SQSTM1	ORPHA:603
HP:0002355	Difficulty walking	7072	TIA1	ORPHA:603
HP:0002355	Difficulty walking	4625	MYH7	OMIM:608358
HP:0002355	Difficulty walking	4625	MYH7	ORPHA:437572
HP:0002355	Difficulty walking	5190	PEX6	ORPHA:95433
HP:0002355	Difficulty walking	29967	LRP12	OMIM:164310
HP:0002355	Difficulty walking	9782	MATR3	ORPHA:600
HP:0002355	Difficulty walking	83480	PUS3	ORPHA:488627
HP:0002355	Difficulty walking	823	CAPN1	OMIM:616907
HP:0002355	Difficulty walking	343641	TGM6	ORPHA:276193
HP:0002355	Difficulty walking	343641	TGM6	OMIM:613908
HP:0002355	Difficulty walking	5354	PLP1	ORPHA:280210
HP:0002355	Difficulty walking	5354	PLP1	ORPHA:280219
HP:0002355	Difficulty walking	5354	PLP1	ORPHA:280234
HP:0002355	Difficulty walking	5354	PLP1	ORPHA:280229
HP:0002355	Difficulty walking	57531	HACE1	ORPHA:464282
HP:0002355	Difficulty walking	10367	MICU1	ORPHA:401768
HP:0002355	Difficulty walking	10367	MICU1	OMIM:615673
HP:0002355	Difficulty walking	23400	ATP13A2	ORPHA:513436
HP:0002355	Difficulty walking	23400	ATP13A2	ORPHA:306674
HP:0002355	Difficulty walking	26278	SACS	ORPHA:98
HP:0002355	Difficulty walking	8557	TCAP	OMIM:601954
HP:0002355	Difficulty walking	5297	PI4KA	OMIM:619621
HP:0002355	Difficulty walking	1656	DDX6	OMIM:618653
HP:0002355	Difficulty walking	1594	CYP27B1	OMIM:264700
HP:0002355	Difficulty walking	1594	CYP27B1	ORPHA:289157
HP:0002355	Difficulty walking	246243	RNASEH1	OMIM:616479
HP:0002355	Difficulty walking	55526	DHTKD1	OMIM:615025
HP:0002355	Difficulty walking	10352	WARS2	ORPHA:572798
HP:0002355	Difficulty walking	5376	PMP22	ORPHA:90658
HP:0002355	Difficulty walking	5376	PMP22	ORPHA:3115
HP:0002355	Difficulty walking	3737	KCNA2	ORPHA:442835
HP:0002355	Difficulty walking	8120	AP3B2	ORPHA:442835
HP:0002355	Difficulty walking	523	ATP6V1A	ORPHA:442835
HP:0002355	Difficulty walking	10991	SLC38A3	ORPHA:442835
HP:0002355	Difficulty walking	51343	FZR1	ORPHA:442835
HP:0002355	Difficulty walking	22906	TRAK1	ORPHA:442835
HP:0002355	Difficulty walking	2566	GABRG2	ORPHA:442835
HP:0002355	Difficulty walking	1917	EEF1A2	ORPHA:442835
HP:0002355	Difficulty walking	2561	GABRB2	ORPHA:442835
HP:0002355	Difficulty walking	2561	GABRB2	OMIM:617829
HP:0002355	Difficulty walking	8831	SYNGAP1	ORPHA:442835
HP:0002355	Difficulty walking	7532	YWHAG	ORPHA:442835
HP:0002355	Difficulty walking	79876	UBA5	ORPHA:442835
HP:0002355	Difficulty walking	6328	SCN3A	ORPHA:442835
HP:0002355	Difficulty walking	2558	GABRA5	ORPHA:442835
HP:0002355	Difficulty walking	781	CACNA2D1	ORPHA:442835
HP:0002355	Difficulty walking	2906	GRIN2D	ORPHA:442835
HP:0002355	Difficulty walking	116150	NUS1	ORPHA:442835
HP:0002355	Difficulty walking	10659	CELF2	ORPHA:442835
HP:0002355	Difficulty walking	774	CACNA1B	ORPHA:442835
HP:0002355	Difficulty walking	1213	CLTC	ORPHA:442835
HP:0002355	Difficulty walking	51741	WWOX	ORPHA:442835
HP:0002355	Difficulty walking	23334	SZT2	ORPHA:442835
HP:0002355	Difficulty walking	51412	ACTL6B	ORPHA:442835
HP:0002355	Difficulty walking	348980	HCN1	ORPHA:442835
HP:0002355	Difficulty walking	6506	SLC1A2	ORPHA:442835
HP:0002355	Difficulty walking	8867	SYNJ1	ORPHA:442835
HP:0002355	Difficulty walking	2258	FGF13	ORPHA:442835
HP:0002355	Difficulty walking	477	ATP1A2	ORPHA:442835
HP:0002355	Difficulty walking	3745	KCNB1	ORPHA:442835
HP:0002355	Difficulty walking	284111	SLC13A5	ORPHA:442835
HP:0002355	Difficulty walking	25977	NECAP1	ORPHA:442835
HP:0002355	Difficulty walking	16	AARS1	ORPHA:442835
HP:0002355	Difficulty walking	16	AARS1	OMIM:619661
HP:0002355	Difficulty walking	6334	SCN8A	ORPHA:442835
HP:0002355	Difficulty walking	22866	CNKSR2	ORPHA:442835
HP:0002355	Difficulty walking	9568	GABBR2	ORPHA:442835
HP:0002355	Difficulty walking	2555	GABRA2	ORPHA:442835
HP:0002355	Difficulty walking	55152	DALRD3	ORPHA:442835
HP:0002355	Difficulty walking	773	CACNA1A	ORPHA:442835
HP:0002355	Difficulty walking	26999	CYFIP2	ORPHA:442835
HP:0002355	Difficulty walking	4915	NTRK2	ORPHA:442835
HP:0002355	Difficulty walking	25973	PARS2	ORPHA:442835
HP:0002355	Difficulty walking	23097	CDK19	ORPHA:442835
HP:0002355	Difficulty walking	64801	ARV1	ORPHA:442835
HP:0002355	Difficulty walking	79947	DHDDS	ORPHA:442835
HP:0002355	Difficulty walking	2257	FGF12	ORPHA:442835
HP:0002355	Difficulty walking	5530	PPP3CA	ORPHA:442835
HP:0002355	Difficulty walking	478	ATP1A3	ORPHA:442835
HP:0002355	Difficulty walking	79152	FA2H	OMIM:612319
HP:0002355	Difficulty walking	79152	FA2H	ORPHA:171629
HP:0002355	Difficulty walking	10528	NOP56	ORPHA:276198
HP:0002355	Difficulty walking	4359	MPZ	ORPHA:3115
HP:0002355	Difficulty walking	3752	KCND3	ORPHA:98772
HP:0002355	Difficulty walking	23299	BICD2	ORPHA:363454
HP:0002355	Difficulty walking	10585	POMT1	OMIM:609308
HP:0002355	Difficulty walking	10585	POMT1	ORPHA:370980
HP:0002355	Difficulty walking	10585	POMT1	ORPHA:86812
HP:0002355	Difficulty walking	84138	SLC7A6OS	OMIM:619191
HP:0002355	Difficulty walking	142680	SLC34A3	OMIM:241530
HP:0002355	Difficulty walking	84504	NKX6-2	ORPHA:527497
HP:0002355	Difficulty walking	203859	ANO5	ORPHA:399096
HP:0002355	Difficulty walking	55773	TBC1D23	OMIM:617695
HP:0002355	Difficulty walking	8239	USP9X	ORPHA:480880
HP:0002355	Difficulty walking	540	ATP7B	ORPHA:905
HP:0002355	Difficulty walking	8314	BAP1	ORPHA:2495
HP:0002355	Difficulty walking	4771	NF2	ORPHA:2495
HP:0002355	Difficulty walking	6598	SMARCB1	ORPHA:2495
HP:0002355	Difficulty walking	5155	PDGFB	ORPHA:2495
HP:0002355	Difficulty walking	84231	TRAF7	ORPHA:2495
HP:0002355	Difficulty walking	6608	SMO	ORPHA:2495
HP:0002355	Difficulty walking	207	AKT1	ORPHA:2495
HP:0002355	Difficulty walking	5290	PIK3CA	ORPHA:2495
HP:0002355	Difficulty walking	7015	TERT	ORPHA:2495
HP:0002355	Difficulty walking	51684	SUFU	ORPHA:2495
HP:0002355	Difficulty walking	6605	SMARCE1	ORPHA:2495
HP:0002355	Difficulty walking	146057	TTBK2	ORPHA:98767
HP:0002355	Difficulty walking	3748	KCNC3	ORPHA:98768
HP:0002355	Difficulty walking	2259	FGF14	ORPHA:98764
HP:0002355	Difficulty walking	10613	ERLIN1	ORPHA:401785
HP:0002355	Difficulty walking	10613	ERLIN1	OMIM:615681
HP:0002355	Difficulty walking	3766	KCNJ10	ORPHA:199343
HP:0002355	Difficulty walking	2521	FUS	ORPHA:300605
HP:0002355	Difficulty walking	80208	SPG11	ORPHA:300605
HP:0002355	Difficulty walking	10280	SIGMAR1	ORPHA:300605
HP:0002355	Difficulty walking	10558	SPTLC1	ORPHA:300605
HP:0002355	Difficulty walking	57679	ALS2	ORPHA:300605
HP:0002355	Difficulty walking	57679	ALS2	OMIM:205100
HP:0002355	Difficulty walking	55958	KLHL9	ORPHA:399081
HP:0002355	Difficulty walking	8733	GPAA1	ORPHA:529665
HP:0002355	Difficulty walking	5165	PDK3	ORPHA:352675
HP:0002355	Difficulty walking	400916	CHCHD10	OMIM:615048
HP:0002355	Difficulty walking	11149	BVES	OMIM:616812
HP:0002355	Difficulty walking	23175	LPIN1	ORPHA:99845
HP:0002355	Difficulty walking	4512	MT-CO1	ORPHA:99845
HP:0002355	Difficulty walking	4514	MT-CO3	ORPHA:99845
HP:0002355	Difficulty walking	8565	YARS1	OMIM:608323
HP:0002355	Difficulty walking	23204	ARL6IP1	ORPHA:401780
HP:0002355	Difficulty walking	57104	PNPLA2	OMIM:610717
HP:0002355	Difficulty walking	57104	PNPLA2	ORPHA:98908
HP:0002355	Difficulty walking	427	ASAH1	ORPHA:2590
HP:0002355	Difficulty walking	427	ASAH1	OMIM:159950
HP:0002355	Difficulty walking	111	ADCY5	ORPHA:324588
HP:0002355	Difficulty walking	339855	KY	OMIM:617114
HP:0002355	Difficulty walking	10463	SLC30A9	OMIM:617595
HP:0002355	Difficulty walking	7415	VCP	ORPHA:329478
HP:0002355	Difficulty walking	7415	VCP	ORPHA:435387
HP:0002355	Difficulty walking	7415	VCP	OMIM:613954
HP:0002355	Difficulty walking	6572	SLC18A3	OMIM:617239
HP:0002355	Difficulty walking	6572	SLC18A3	ORPHA:98914
HP:0002355	Difficulty walking	84665	MYPN	ORPHA:171439
HP:0002355	Difficulty walking	7169	TPM2	ORPHA:171439
HP:0002355	Difficulty walking	7169	TPM2	OMIM:609285
HP:0002355	Difficulty walking	390594	KBTBD13	ORPHA:171439
HP:0002355	Difficulty walking	23479	ISCU	OMIM:255125
HP:0002355	Difficulty walking	6843	VAMP1	ORPHA:251282
HP:0002355	Difficulty walking	6843	VAMP1	ORPHA:98914
HP:0002355	Difficulty walking	3098	HK1	ORPHA:99953
HP:0002355	Difficulty walking	3098	HK1	OMIM:605285
HP:0002355	Difficulty walking	79628	SH3TC2	OMIM:601596
HP:0002355	Difficulty walking	79628	SH3TC2	ORPHA:99949
HP:0002355	Difficulty walking	6253	RTN2	ORPHA:100993
HP:0002355	Difficulty walking	51271	UBAP1	ORPHA:100993
HP:0002355	Difficulty walking	2512	FTL	ORPHA:157846
HP:0002355	Difficulty walking	4883	NPR3	OMIM:619543
HP:0002355	Difficulty walking	26173	INTS1	OMIM:618571
HP:0002355	Difficulty walking	57716	PRX	OMIM:614895
HP:0002355	Difficulty walking	80199	FUZ	ORPHA:1136
HP:0002355	Difficulty walking	2583	B4GALNT1	OMIM:609195
HP:0002355	Difficulty walking	11232	POLG2	OMIM:619425
HP:0002355	Difficulty walking	8291	DYSF	ORPHA:45448
HP:0002355	Difficulty walking	9230	RAB11B	OMIM:617807
HP:0002355	Difficulty walking	6443	SGCB	ORPHA:119
HP:0002355	Difficulty walking	10535	RNASEH2A	ORPHA:51
HP:0002355	Difficulty walking	84153	RNASEH2C	ORPHA:51
HP:0002355	Difficulty walking	25939	SAMHD1	ORPHA:51
HP:0002355	Difficulty walking	79621	RNASEH2B	ORPHA:51
HP:0002355	Difficulty walking	103	ADAR	ORPHA:51
HP:0002355	Difficulty walking	11277	TREX1	ORPHA:51
HP:0002355	Difficulty walking	100147744	RNU7-1	ORPHA:51
HP:0002355	Difficulty walking	134353	LSM11	ORPHA:51
HP:0002355	Difficulty walking	64135	IFIH1	ORPHA:51
HP:0002355	Difficulty walking	7080	NKX2-1	OMIM:610978
HP:0002355	Difficulty walking	54808	DYM	ORPHA:239
HP:0002355	Difficulty walking	8729	GBF1	OMIM:606483
HP:0002355	Difficulty walking	23064	SETX	OMIM:602433
HP:0002355	Difficulty walking	23111	SPART	OMIM:275900
HP:0002355	Difficulty walking	4141	MARS1	OMIM:616280
HP:0002355	Difficulty walking	10059	DNM1L	ORPHA:330050
HP:0002355	Difficulty walking	4728	NDUFS8	OMIM:618222
HP:0002355	Difficulty walking	9897	WASHC5	ORPHA:100989
HP:0002355	Difficulty walking	126129	CPT1C	OMIM:616282
HP:0002355	Difficulty walking	126129	CPT1C	ORPHA:444099
HP:0002355	Difficulty walking	1410	CRYAB	ORPHA:399058
HP:0002355	Difficulty walking	4508	MT-ATP6	ORPHA:320360
HP:0002355	Difficulty walking	274	BIN1	ORPHA:169189
HP:0002355	Difficulty walking	64419	MTMR14	ORPHA:169189
HP:0002355	Difficulty walking	4618	MYF6	ORPHA:169189
HP:0002355	Difficulty walking	1785	DNM2	ORPHA:169189
HP:0002355	Difficulty walking	6261	RYR1	ORPHA:169189
HP:0002355	Difficulty walking	59341	TRPV4	ORPHA:93314
HP:0002355	Difficulty walking	4148	MATN3	ORPHA:93311
HP:0002355	Difficulty walking	3208	HPCA	ORPHA:99657
HP:0002355	Difficulty walking	2581	GALC	ORPHA:206443
HP:0002355	Difficulty walking	84909	AOPEP	OMIM:619565
HP:0002355	Difficulty walking	1436	CSF1R	OMIM:618476
HP:0002355	Difficulty walking	518	ATP5MC3	OMIM:619681
HP:0002355	Difficulty walking	6652	SORD	OMIM:618912
HP:0002355	Difficulty walking	4204	MECP2	ORPHA:778
HP:0002355	Difficulty walking	84679	SLC9A7	OMIM:301024
HP:0002355	Difficulty walking	2895	GRID2	ORPHA:363432
HP:0002355	Difficulty walking	65055	REEP1	ORPHA:101011
HP:0002355	Difficulty walking	3315	HSPB1	OMIM:608634
HP:0002355	Difficulty walking	8925	HERC1	ORPHA:457359
HP:0002355	Difficulty walking	7084	TK2	ORPHA:254875
HP:0002355	Difficulty walking	112939	NACC1	OMIM:617393
HP:0002355	Difficulty walking	80224	NUBPL	OMIM:618242
HP:0002355	Difficulty walking	29920	PYCR2	ORPHA:481152
HP:0002355	Difficulty walking	1737	DLAT	ORPHA:79244
HP:0002355	Difficulty walking	112812	FDX2	OMIM:251900
HP:0002355	Difficulty walking	6792	CDKL5	ORPHA:505652
HP:0002355	Difficulty walking	57599	WDR48	ORPHA:401800
HP:0002355	Difficulty walking	51324	SPG21	ORPHA:101001
HP:0002355	Difficulty walking	26175	LYSET	OMIM:619345
HP:0002355	Difficulty walking	2705	GJB1	OMIM:302800
HP:0002355	Difficulty walking	2992	GYG1	OMIM:616199
HP:0002355	Difficulty walking	7421	VDR	OMIM:277440
HP:0002355	Difficulty walking	7453	WARS1	OMIM:617721
HP:0002355	Difficulty walking	57449	PLEKHG5	OMIM:611067
HP:0002355	Difficulty walking	27010	TPK1	OMIM:614458
HP:0002355	Difficulty walking	2218	FKTN	ORPHA:370980
HP:0002355	Difficulty walking	729920	CRPPA	ORPHA:370980
HP:0002355	Difficulty walking	1756	DMD	ORPHA:98895
HP:0002355	Difficulty walking	10755	GIPC1	ORPHA:98897
HP:0002355	Difficulty walking	100996717	NOTCH2NLC	ORPHA:98897
HP:0002355	Difficulty walking	340075	ARSI	ORPHA:401815
HP:0002355	Difficulty walking	26580	BSCL2	OMIM:619112
HP:0002355	Difficulty walking	8988	HSPB3	OMIM:613376
HP:0002355	Difficulty walking	2548	GAA	OMIM:232300
HP:0002355	Difficulty walking	2318	FLNC	ORPHA:63273
HP:0002355	Difficulty walking	6872	TAF1	ORPHA:53351
HP:0002355	Difficulty walking	1605	DAG1	OMIM:613818
HP:0002355	Difficulty walking	283446	MYO1H	OMIM:619482
HP:0002355	Difficulty walking	80055	PGAP1	ORPHA:401820
HP:0002355	Difficulty walking	5375	PMP2	OMIM:618279
HP:0002355	Difficulty walking	92335	STRADA	OMIM:611087
HP:0002355	Difficulty walking	4649	MYO9A	ORPHA:98914
HP:0002355	Difficulty walking	1305	COL13A1	ORPHA:98914
HP:0002355	Difficulty walking	1103	CHAT	ORPHA:98914
HP:0002355	Difficulty walking	6576	SLC25A1	ORPHA:98914
HP:0002355	Difficulty walking	375790	AGRN	ORPHA:98914
HP:0002355	Difficulty walking	127833	SYT2	ORPHA:98914
HP:0002355	Difficulty walking	57704	GBA2	ORPHA:320391
HP:0002355	Difficulty walking	9499	MYOT	ORPHA:98911
HP:0002355	Difficulty walking	3710	ITPR3	OMIM:620111
HP:0002355	Difficulty walking	2799	GNS	OMIM:252940
HP:0002355	Difficulty walking	2273	FHL1	OMIM:300280
HP:0002355	Difficulty walking	1303	COL12A1	ORPHA:610
HP:0002355	Difficulty walking	1291	COL6A1	ORPHA:610
HP:0002355	Difficulty walking	1292	COL6A2	ORPHA:610
HP:0002355	Difficulty walking	1293	COL6A3	ORPHA:610
HP:0002355	Difficulty walking	1200	TPP1	ORPHA:284324
HP:0002355	Difficulty walking	80347	COASY	ORPHA:397725
HP:0002355	Difficulty walking	10717	AP4B1	ORPHA:280763
HP:0002355	Difficulty walking	9179	AP4M1	ORPHA:280763
HP:0002355	Difficulty walking	11154	AP4S1	ORPHA:280763
HP:0002355	Difficulty walking	23431	AP4E1	ORPHA:280763
HP:0002355	Difficulty walking	5317	PKP1	ORPHA:158668
HP:0002355	Difficulty walking	51	ACOX1	OMIM:618960
HP:0002355	Difficulty walking	210	ALAD	ORPHA:100924
HP:0002355	Difficulty walking	89970	RSPRY1	ORPHA:457395
HP:0002355	Difficulty walking	4038	LRP4	OMIM:616304
HP:0002355	Difficulty walking	51099	ABHD5	ORPHA:98907
HP:0002355	Difficulty walking	2733	GLE1	OMIM:611890
HP:0002355	Difficulty walking	10273	STUB1	ORPHA:412057
HP:0002355	Difficulty walking	81545	FBXO38	OMIM:615575
HP:0002355	Difficulty walking	1674	DES	ORPHA:98909
HP:0002355	Difficulty walking	60386	SLC25A19	OMIM:613710
HP:0002355	Difficulty walking	8139	GAN	ORPHA:643
HP:0002355	Difficulty walking	9451	EIF2AK3	ORPHA:1667
HP:0002355	Difficulty walking	29954	POMT2	ORPHA:206559
HP:0002355	Difficulty walking	4914	NTRK1	ORPHA:642
HP:0002355	Difficulty walking	3839	KPNA3	ORPHA:171612
HP:0002355	Difficulty walking	84706	GPT2	ORPHA:477673
HP:0002355	Difficulty walking	9927	MFN2	OMIM:617087
HP:0002355	Difficulty walking	1968	EIF2S3	OMIM:300148
HP:0002355	Difficulty walking	4747	NEFL	OMIM:617882
HP:0002355	Difficulty walking	125170	MIEF2	OMIM:619024
HP:0002355	Difficulty walking	9570	GOSR2	OMIM:614018
HP:0002355	Difficulty walking	10299	MARCHF6	OMIM:613608
HP:0002355	Difficulty walking	60481	ELOVL5	ORPHA:423296
HP:0002355	Difficulty walking	267010	RNU12	ORPHA:512260
HP:0009031	Amyotrophy of ankle musculature	55958	KLHL9	ORPHA:399081
HP:0009031	Amyotrophy of ankle musculature	4625	MYH7	OMIM:160500
HP:0009130	Hand muscle atrophy	2617	GARS1	OMIM:600794
HP:0009130	Hand muscle atrophy	2617	GARS1	ORPHA:139536
HP:0009130	Hand muscle atrophy	2617	GARS1	OMIM:601472
HP:0009130	Hand muscle atrophy	1311	COMP	OMIM:619161
HP:0009130	Hand muscle atrophy	91252	SLC39A13	ORPHA:157965
HP:0009130	Hand muscle atrophy	91252	SLC39A13	OMIM:612350
HP:0009130	Hand muscle atrophy	8985	PLOD3	OMIM:612394
HP:0009130	Hand muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0009130	Hand muscle atrophy	5165	PDK3	ORPHA:352675
HP:0009130	Hand muscle atrophy	65055	REEP1	OMIM:614751
HP:0009130	Hand muscle atrophy	65055	REEP1	ORPHA:139536
HP:0009130	Hand muscle atrophy	4703	NEB	OMIM:256030
HP:0009130	Hand muscle atrophy	3710	ITPR3	OMIM:620111
HP:0009130	Hand muscle atrophy	3425	IDUA	OMIM:607015
HP:0009130	Hand muscle atrophy	80208	SPG11	OMIM:604360
HP:0009130	Hand muscle atrophy	8729	GBF1	OMIM:606483
HP:0009130	Hand muscle atrophy	55768	NGLY1	OMIM:615273
HP:0009130	Hand muscle atrophy	23321	TRIM2	OMIM:615490
HP:0009130	Hand muscle atrophy	182	JAG1	OMIM:619574
HP:0009130	Hand muscle atrophy	8988	HSPB3	OMIM:613376
HP:0009130	Hand muscle atrophy	22880	MORC2	OMIM:616688
HP:0009130	Hand muscle atrophy	859	CAV3	OMIM:614321
HP:0009130	Hand muscle atrophy	859	CAV3	ORPHA:488650
HP:0009130	Hand muscle atrophy	2318	FLNC	ORPHA:63273
HP:0009130	Hand muscle atrophy	374969	SVBP	OMIM:618569
HP:0009130	Hand muscle atrophy	8878	SQSTM1	ORPHA:603
HP:0009130	Hand muscle atrophy	7072	TIA1	ORPHA:603
HP:0009130	Hand muscle atrophy	9990	SLC12A6	OMIM:620068
HP:0009130	Hand muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0009130	Hand muscle atrophy	6261	RYR1	ORPHA:178145
HP:0009130	Hand muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0009130	Hand muscle atrophy	8291	DYSF	ORPHA:178400
HP:0009130	Hand muscle atrophy	8291	DYSF	ORPHA:45448
HP:0009130	Hand muscle atrophy	547	KIF1A	OMIM:614213
HP:0009130	Hand muscle atrophy	57716	PRX	OMIM:614895
HP:0009130	Hand muscle atrophy	3035	HARS1	ORPHA:488333
HP:0009130	Hand muscle atrophy	400916	CHCHD10	ORPHA:276435
HP:0009130	Hand muscle atrophy	11155	LDB3	ORPHA:98912
HP:0009130	Hand muscle atrophy	4359	MPZ	ORPHA:3115
HP:0009130	Hand muscle atrophy	1134	CHRNA1	OMIM:601462
HP:0009130	Hand muscle atrophy	4141	MARS1	OMIM:616280
HP:0009130	Hand muscle atrophy	284058	KANSL1	ORPHA:363965
HP:0009130	Hand muscle atrophy	284058	KANSL1	ORPHA:363958
HP:0009130	Hand muscle atrophy	3094	HINT1	ORPHA:324442
HP:0009130	Hand muscle atrophy	26580	BSCL2	ORPHA:100998
HP:0009130	Hand muscle atrophy	57679	ALS2	OMIM:205100
HP:0009130	Hand muscle atrophy	7415	VCP	ORPHA:435387
HP:0009130	Hand muscle atrophy	59341	TRPV4	OMIM:606071
HP:0009130	Hand muscle atrophy	80199	FUZ	ORPHA:1136
HP:0009130	Hand muscle atrophy	58	ACTA1	OMIM:616852
HP:0009130	Hand muscle atrophy	10342	TFG	OMIM:615658
HP:0009130	Hand muscle atrophy	5376	PMP22	ORPHA:90658
HP:0009130	Hand muscle atrophy	89874	SLC25A21	OMIM:618811
HP:0009130	Hand muscle atrophy	54332	GDAP1	ORPHA:99944
HP:0009130	Hand muscle atrophy	1639	DCTN1	OMIM:607641
HP:0009130	Hand muscle atrophy	4000	LMNA	ORPHA:98856
HP:0009130	Hand muscle atrophy	4747	NEFL	OMIM:607684
HP:0009130	Hand muscle atrophy	4747	NEFL	ORPHA:101085
HP:0009130	Hand muscle atrophy	113278	SLC52A3	OMIM:211530
HP:0009130	Hand muscle atrophy	2395	FXN	ORPHA:95
HP:0030241	Hypoplasia of deltoid muscle	57167	SALL4	OMIM:147750
HP:0012090	Abnormal pancreas morphology	9401	RECQL4	OMIM:268400
HP:0012090	Abnormal pancreas morphology	23387	SIK3	OMIM:618162
HP:0012090	Abnormal pancreas morphology	2294	FOXF1	OMIM:265380
HP:0012090	Abnormal pancreas morphology	2294	FOXF1	ORPHA:210122
HP:0012090	Abnormal pancreas morphology	2177	FANCD2	OMIM:227646
HP:0012090	Abnormal pancreas morphology	473	RERE	OMIM:616975
HP:0012090	Abnormal pancreas morphology	473	RERE	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	4613	MYCN	OMIM:164280
HP:0012090	Abnormal pancreas morphology	9894	TELO2	ORPHA:488642
HP:0012090	Abnormal pancreas morphology	5590	PRKCZ	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	2563	GABRD	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	23013	SPEN	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	8510	MMP23B	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	7798	LUZP1	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	6497	SKI	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	10630	PDPN	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	3339	HSPG2	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	10277	UBE4B	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	8514	KCNAB2	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	63976	PRDM16	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	54897	CASZ1	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	2313	FLI1	ORPHA:2308
HP:0012090	Abnormal pancreas morphology	7428	VHL	ORPHA:892
HP:0012090	Abnormal pancreas morphology	7428	VHL	OMIM:193300
HP:0012090	Abnormal pancreas morphology	595	CCND1	ORPHA:892
HP:0012090	Abnormal pancreas morphology	595	CCND1	OMIM:193300
HP:0012090	Abnormal pancreas morphology	51726	DNAJB11	ORPHA:730
HP:0012090	Abnormal pancreas morphology	23193	GANAB	ORPHA:730
HP:0012090	Abnormal pancreas morphology	5310	PKD1	ORPHA:730
HP:0012090	Abnormal pancreas morphology	5311	PKD2	ORPHA:730
HP:0012090	Abnormal pancreas morphology	29880	ALG5	ORPHA:730
HP:0012090	Abnormal pancreas morphology	9742	IFT140	ORPHA:730
HP:0012090	Abnormal pancreas morphology	9742	IFT140	OMIM:266920
HP:0012090	Abnormal pancreas morphology	79796	ALG9	ORPHA:730
HP:0012090	Abnormal pancreas morphology	80114	BICC1	ORPHA:730
HP:0012090	Abnormal pancreas morphology	5314	PKHD1	OMIM:263200
HP:0012090	Abnormal pancreas morphology	5314	PKHD1	ORPHA:731
HP:0012090	Abnormal pancreas morphology	57728	WDR19	OMIM:614377
HP:0012090	Abnormal pancreas morphology	57728	WDR19	OMIM:616307
HP:0012090	Abnormal pancreas morphology	8481	OFD1	OMIM:311200
HP:0012090	Abnormal pancreas morphology	8481	OFD1	ORPHA:2750
HP:0012090	Abnormal pancreas morphology	63929	XPNPEP3	OMIM:613159
HP:0012090	Abnormal pancreas morphology	9939	RBM8A	OMIM:274000
HP:0012090	Abnormal pancreas morphology	199221	DZIP1L	ORPHA:731
HP:0012090	Abnormal pancreas morphology	2627	GATA6	OMIM:600001
HP:0012090	Abnormal pancreas morphology	2627	GATA6	ORPHA:2255
HP:0012090	Abnormal pancreas morphology	3767	KCNJ11	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3767	KCNJ11	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	8462	KLF11	ORPHA:552
HP:0012090	Abnormal pancreas morphology	2645	GCK	ORPHA:552
HP:0012090	Abnormal pancreas morphology	2645	GCK	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	26060	APPL1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	640	BLK	ORPHA:552
HP:0012090	Abnormal pancreas morphology	1056	CEL	ORPHA:552
HP:0012090	Abnormal pancreas morphology	4760	NEUROD1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3651	PDX1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3651	PDX1	OMIM:260370
HP:0012090	Abnormal pancreas morphology	3651	PDX1	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	6833	ABCC8	ORPHA:552
HP:0012090	Abnormal pancreas morphology	6833	ABCC8	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	5078	PAX4	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3172	HNF4A	ORPHA:552
HP:0012090	Abnormal pancreas morphology	6927	HNF1A	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3630	INS	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3630	INS	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	55315	SLC29A3	OMIM:602782
HP:0012090	Abnormal pancreas morphology	6928	HNF1B	OMIM:137920
HP:0012090	Abnormal pancreas morphology	54914	FOCAD	OMIM:619991
HP:0012090	Abnormal pancreas morphology	222546	RFX6	OMIM:615710
HP:0012090	Abnormal pancreas morphology	169792	GLIS3	OMIM:610199
HP:0012090	Abnormal pancreas morphology	256297	PTF1A	OMIM:615935
HP:0012090	Abnormal pancreas morphology	256297	PTF1A	OMIM:609069
HP:0012090	Abnormal pancreas morphology	6774	STAT3	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	134218	DNAJC21	ORPHA:811
HP:0012090	Abnormal pancreas morphology	79631	EFL1	ORPHA:811
HP:0012090	Abnormal pancreas morphology	51119	SBDS	ORPHA:811
HP:0012090	Abnormal pancreas morphology	6729	SRP54	ORPHA:811
HP:0012090	Abnormal pancreas morphology	11330	CTRC	ORPHA:103918
HP:0012090	Abnormal pancreas morphology	11330	CTRC	ORPHA:676
HP:0012090	Abnormal pancreas morphology	11330	CTRC	OMIM:167800
HP:0012090	Abnormal pancreas morphology	6690	SPINK1	ORPHA:103918
HP:0012090	Abnormal pancreas morphology	6690	SPINK1	ORPHA:676
HP:0012090	Abnormal pancreas morphology	6690	SPINK1	OMIM:608189
HP:0012090	Abnormal pancreas morphology	6690	SPINK1	OMIM:167800
HP:0012090	Abnormal pancreas morphology	5644	PRSS1	ORPHA:676
HP:0012090	Abnormal pancreas morphology	5644	PRSS1	OMIM:167800
HP:0012090	Abnormal pancreas morphology	5645	PRSS2	ORPHA:676
HP:0012090	Abnormal pancreas morphology	5645	PRSS2	OMIM:167800
HP:0012090	Abnormal pancreas morphology	846	CASR	ORPHA:676
HP:0012090	Abnormal pancreas morphology	1080	CFTR	ORPHA:676
HP:0012090	Abnormal pancreas morphology	1080	CFTR	OMIM:167800
HP:0012090	Abnormal pancreas morphology	1357	CPA1	ORPHA:676
HP:0012090	Abnormal pancreas morphology	5167	ENPP1	ORPHA:51608
HP:0012090	Abnormal pancreas morphology	368	ABCC6	ORPHA:51608
HP:0012090	Abnormal pancreas morphology	171023	ASXL1	OMIM:605039
HP:0012090	Abnormal pancreas morphology	1028	CDKN1C	OMIM:130650
HP:0012090	Abnormal pancreas morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012090	Abnormal pancreas morphology	3481	IGF2	OMIM:130650
HP:0012090	Abnormal pancreas morphology	3784	KCNQ1	OMIM:130650
HP:0012090	Abnormal pancreas morphology	1356	CP	ORPHA:48818
HP:0012090	Abnormal pancreas morphology	129563	DIS3L2	ORPHA:2849
HP:0012090	Abnormal pancreas morphology	2317	FLNB	ORPHA:1190
HP:0012090	Abnormal pancreas morphology	26040	SETBP1	OMIM:269150
HP:0012090	Abnormal pancreas morphology	84314	TMEM107	ORPHA:564
HP:0012090	Abnormal pancreas morphology	26123	TCTN3	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79867	TCTN2	ORPHA:564
HP:0012090	Abnormal pancreas morphology	80776	B9D2	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79600	TCTN1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	57096	RPGRIP1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79848	CSPP1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	80184	CEP290	ORPHA:564
HP:0012090	Abnormal pancreas morphology	51259	TMEM216	ORPHA:564
HP:0012090	Abnormal pancreas morphology	57545	CC2D2A	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79583	TMEM231	ORPHA:564
HP:0012090	Abnormal pancreas morphology	91147	TMEM67	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79770	TXNDC15	ORPHA:564
HP:0012090	Abnormal pancreas morphology	27077	B9D1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	23322	RPGRIP1L	ORPHA:564
HP:0012090	Abnormal pancreas morphology	54903	MKS1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	65062	TMEM237	ORPHA:564
HP:0012090	Abnormal pancreas morphology	55112	DYNC2I1	OMIM:615503
HP:0012090	Abnormal pancreas morphology	51651	PTRH2	OMIM:616263
HP:0012090	Abnormal pancreas morphology	2542	SLC37A4	OMIM:232220
HP:0012090	Abnormal pancreas morphology	27031	NPHP3	OMIM:208540
HP:0012090	Abnormal pancreas morphology	4750	NEK1	OMIM:263520
HP:0012090	Abnormal pancreas morphology	64220	STRA6	ORPHA:2470
HP:0012090	Abnormal pancreas morphology	5915	RARB	ORPHA:2470
HP:0012090	Abnormal pancreas morphology	23019	CNOT1	ORPHA:556955
HP:0012090	Abnormal pancreas morphology	23019	CNOT1	OMIM:618500
HP:0012090	Abnormal pancreas morphology	3975	LHX1	ORPHA:261265
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	ORPHA:289916
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	OMIM:251000
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	ORPHA:79312
HP:0012091	Abnormality of pancreas physiology	26160	IFT172	OMIM:619471
HP:0012091	Abnormality of pancreas physiology	7840	ALMS1	ORPHA:64
HP:0012091	Abnormality of pancreas physiology	9056	SLC7A7	ORPHA:470
HP:0012091	Abnormality of pancreas physiology	9056	SLC7A7	OMIM:222700
HP:0012091	Abnormality of pancreas physiology	1629	DBT	OMIM:248600
HP:0012091	Abnormality of pancreas physiology	593	BCKDHA	OMIM:248600
HP:0012091	Abnormality of pancreas physiology	594	BCKDHB	OMIM:248600
HP:0012091	Abnormality of pancreas physiology	1493	CTLA4	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	26191	PTPN22	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	3115	HLA-DPB1	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	5657	PRTN3	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	3113	HLA-DPA1	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	4023	LPL	OMIM:238600
HP:0012091	Abnormality of pancreas physiology	4210	MEFV	ORPHA:342
HP:0012091	Abnormality of pancreas physiology	4210	MEFV	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	5244	ABCB4	ORPHA:69663
HP:0012091	Abnormality of pancreas physiology	5244	ABCB4	OMIM:600803
HP:0012091	Abnormality of pancreas physiology	4722	NDUFS3	OMIM:618230
HP:0012091	Abnormality of pancreas physiology	63924	CIDEC	ORPHA:435651
HP:0012091	Abnormality of pancreas physiology	50485	SMARCAL1	ORPHA:1830
HP:0012091	Abnormality of pancreas physiology	50940	PDE11A	OMIM:610475
HP:0012091	Abnormality of pancreas physiology	10165	SLC25A13	OMIM:603471
HP:0012091	Abnormality of pancreas physiology	10165	SLC25A13	ORPHA:247585
HP:0012091	Abnormality of pancreas physiology	3106	HLA-B	ORPHA:36426
HP:0012091	Abnormality of pancreas physiology	3106	HLA-B	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	10320	IKZF1	ORPHA:36426
HP:0012091	Abnormality of pancreas physiology	72	ACTG2	OMIM:155310
HP:0012091	Abnormality of pancreas physiology	2859	GPR35	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	10507	SEMA4D	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	4485	MST1	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	6925	TCF4	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	10273	STUB1	ORPHA:412057
HP:0012091	Abnormality of pancreas physiology	133686	NADK2	ORPHA:431361
HP:0012091	Abnormality of pancreas physiology	2538	G6PC1	OMIM:232200
HP:0012091	Abnormality of pancreas physiology	26007	TKFC	OMIM:618805
HP:0012091	Abnormality of pancreas physiology	5468	PPARG	ORPHA:79083
HP:0012091	Abnormality of pancreas physiology	875	CBS	OMIM:236200
HP:0012091	Abnormality of pancreas physiology	5095	PCCA	OMIM:606054
HP:0012091	Abnormality of pancreas physiology	5096	PCCB	OMIM:606054
HP:0012091	Abnormality of pancreas physiology	5205	ATP8B1	OMIM:243300
HP:0012091	Abnormality of pancreas physiology	2778	GNAS	ORPHA:562
HP:0012091	Abnormality of pancreas physiology	1175	AP2S1	OMIM:600740
HP:0012091	Abnormality of pancreas physiology	9054	NFS1	OMIM:619386
HP:0012091	Abnormality of pancreas physiology	64788	LMF1	OMIM:246650
HP:0012091	Abnormality of pancreas physiology	344	APOC2	OMIM:207750
HP:0012091	Abnormality of pancreas physiology	2767	GNA11	OMIM:145981
HP:0012091	Abnormality of pancreas physiology	7388	UQCRH	OMIM:620137
HP:0012091	Abnormality of pancreas physiology	2313	FLI1	ORPHA:370348
HP:0012091	Abnormality of pancreas physiology	149233	IL23R	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	6775	STAT4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3586	IL10	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	1230	CCR1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	355	FAS	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3592	IL12A	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	7099	TLR4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3459	IFNGR1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	720	C4A	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	337867	UBAC2	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	51752	ERAP1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	8302	KLRC4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3155	HMGCL	ORPHA:20
HP:0012091	Abnormality of pancreas physiology	100147744	RNU7-1	OMIM:619487
HP:0012091	Abnormality of pancreas physiology	286053	NSMCE2	OMIM:617253
HP:0012091	Abnormality of pancreas physiology	4000	LMNA	OMIM:151660
HP:0012091	Abnormality of pancreas physiology	26580	BSCL2	OMIM:269700
HP:0012091	Abnormality of pancreas physiology	79415	CYBC1	OMIM:618935
HP:0012091	Abnormality of pancreas physiology	348	APOE	ORPHA:412
HP:0012091	Abnormality of pancreas physiology	10555	AGPAT2	OMIM:608594
HP:0012091	Abnormality of pancreas physiology	8462	KLF11	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	2645	GCK	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	26060	APPL1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	640	BLK	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	1056	CEL	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	1056	CEL	OMIM:609812
HP:0012091	Abnormality of pancreas physiology	4760	NEUROD1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3651	PDX1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3651	PDX1	OMIM:260370
HP:0012091	Abnormality of pancreas physiology	5078	PAX4	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	6927	HNF1A	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3630	INS	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	170302	ARX	ORPHA:452
HP:0012091	Abnormality of pancreas physiology	22827	PUF60	ORPHA:508498
HP:0012091	Abnormality of pancreas physiology	22827	PUF60	ORPHA:508488
HP:0012091	Abnormality of pancreas physiology	1497	CTNS	OMIM:219800
HP:0012091	Abnormality of pancreas physiology	2212	FCGR2A	OMIM:219700
HP:0012091	Abnormality of pancreas physiology	7040	TGFB1	OMIM:219700
HP:0012091	Abnormality of pancreas physiology	7040	TGFB1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	51651	PTRH2	OMIM:616263
HP:0012091	Abnormality of pancreas physiology	51651	PTRH2	ORPHA:456312
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	OMIM:617052
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	23019	CNOT1	OMIM:618500
HP:0012091	Abnormality of pancreas physiology	537	ATP6AP1	OMIM:300972
HP:0012091	Abnormality of pancreas physiology	6928	HNF1B	OMIM:137920
HP:0012091	Abnormality of pancreas physiology	54914	FOCAD	OMIM:619991
HP:0012091	Abnormality of pancreas physiology	7468	NSD2	OMIM:619695
HP:0012091	Abnormality of pancreas physiology	8565	YARS1	OMIM:619418
HP:0012091	Abnormality of pancreas physiology	6774	STAT3	OMIM:615952
HP:0012091	Abnormality of pancreas physiology	2627	GATA6	ORPHA:2255
HP:0012091	Abnormality of pancreas physiology	5557	PRIM1	OMIM:620005
HP:0012091	Abnormality of pancreas physiology	256297	PTF1A	OMIM:615935
HP:0012091	Abnormality of pancreas physiology	8481	OFD1	ORPHA:2750
HP:0012091	Abnormality of pancreas physiology	9451	EIF2AK3	ORPHA:1667
HP:0012091	Abnormality of pancreas physiology	197131	UBR1	ORPHA:2315
HP:0012091	Abnormality of pancreas physiology	197131	UBR1	OMIM:243800
HP:0012091	Abnormality of pancreas physiology	6804	STX1A	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	2947	GSTM3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	2729	GCLC	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	1084	CEACAM3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	6556	SLC11A1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	51164	DCTN4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3783	KCNN4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	4282	MIF	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	1909	EDNRA	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	6550	SLC9A3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3162	HMOX1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	115019	SLC26A9	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3077	HFE	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	11254	SLC6A14	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	5265	SERPINA1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	22802	CLCA4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	4680	CEACAM6	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	8567	MADD	OMIM:619004
HP:0012091	Abnormality of pancreas physiology	6729	SRP54	OMIM:618752
HP:0012091	Abnormality of pancreas physiology	6729	SRP54	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	6729	SRP54	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	51119	SBDS	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	51119	SBDS	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	79631	EFL1	OMIM:617941
HP:0012091	Abnormality of pancreas physiology	79631	EFL1	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	672	BRCA1	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	285282	RABL3	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	7157	TP53	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	675	BRCA2	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	3845	KRAS	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	1029	CDKN2A	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	79728	PALB2	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	4089	SMAD4	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	23022	PALLD	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	57570	TRMT5	OMIM:616539
HP:0012091	Abnormality of pancreas physiology	182	JAG1	OMIM:118450
HP:0012091	Abnormality of pancreas physiology	84701	COX4I2	OMIM:612714
HP:0012091	Abnormality of pancreas physiology	3930	LBR	OMIM:215140
HP:0012091	Abnormality of pancreas physiology	6566	SLC16A1	OMIM:610021
HP:0012091	Abnormality of pancreas physiology	129563	DIS3L2	OMIM:267000
HP:0012091	Abnormality of pancreas physiology	3767	KCNJ11	OMIM:601820
HP:0012091	Abnormality of pancreas physiology	3172	HNF4A	ORPHA:263455
HP:0012091	Abnormality of pancreas physiology	2719	GPC3	OMIM:312870
HP:0012091	Abnormality of pancreas physiology	2719	GPC3	ORPHA:373
HP:0012091	Abnormality of pancreas physiology	2239	GPC4	OMIM:312870
HP:0012091	Abnormality of pancreas physiology	2239	GPC4	ORPHA:373
HP:0012091	Abnormality of pancreas physiology	2184	FAH	OMIM:276700
HP:0012091	Abnormality of pancreas physiology	6833	ABCC8	OMIM:256450
HP:0012091	Abnormality of pancreas physiology	3643	INSR	OMIM:246200
HP:0012091	Abnormality of pancreas physiology	11330	CTRC	ORPHA:103918
HP:0012091	Abnormality of pancreas physiology	6690	SPINK1	ORPHA:103918
HP:0012091	Abnormality of pancreas physiology	57104	PNPLA2	ORPHA:98908
HP:0012091	Abnormality of pancreas physiology	63929	XPNPEP3	OMIM:613159
HP:0012091	Abnormality of pancreas physiology	2710	GK	OMIM:307030
HP:0012091	Abnormality of pancreas physiology	2542	SLC37A4	OMIM:232240
HP:0012091	Abnormality of pancreas physiology	7528	YY1	ORPHA:97279
HP:0012091	Abnormality of pancreas physiology	2746	GLUD1	OMIM:606762
HP:0012091	Abnormality of pancreas physiology	389692	MAFA	OMIM:147630
HP:0012091	Abnormality of pancreas physiology	7428	VHL	ORPHA:892
HP:0012091	Abnormality of pancreas physiology	595	CCND1	ORPHA:892
HP:0012091	Abnormality of pancreas physiology	4221	MEN1	OMIM:131100
HP:0012091	Abnormality of pancreas physiology	6338	SCNN1B	OMIM:211400
HP:0012091	Abnormality of pancreas physiology	6337	SCNN1A	OMIM:613021
HP:0012091	Abnormality of pancreas physiology	57817	HAMP	ORPHA:79230
HP:0012091	Abnormality of pancreas physiology	148738	HJV	ORPHA:79230
HP:0012091	Abnormality of pancreas physiology	1027	CDKN1B	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	1027	CDKN1B	ORPHA:276152
HP:0012091	Abnormality of pancreas physiology	1026	CDKN1A	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	1030	CDKN2B	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	1031	CDKN2C	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	7351	UCP2	ORPHA:276556
HP:0012091	Abnormality of pancreas physiology	79577	CDC73	OMIM:145001
HP:0012091	Abnormality of pancreas physiology	857	CAV1	OMIM:606721
HP:0012091	Abnormality of pancreas physiology	4558	MT-TF	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4572	MT-TQ	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4512	MT-CO1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4513	MT-CO2	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4514	MT-CO3	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4578	MT-TW	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4540	MT-ND5	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4541	MT-ND6	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4535	MT-ND1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4538	MT-ND4	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4567	MT-TL1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4574	MT-TS1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4575	MT-TS2	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4564	MT-TH	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	57003	CCDC47	OMIM:618268
HP:0012091	Abnormality of pancreas physiology	338328	GPIHBP1	OMIM:615947
HP:0012091	Abnormality of pancreas physiology	5644	PRSS1	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	5645	PRSS2	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	846	CASR	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	1080	CFTR	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	1357	CPA1	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	2642	GCGR	OMIM:619290
HP:0012092	Abnormality of exocrine pancreas physiology	3767	KCNJ11	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	8462	KLF11	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	2645	GCK	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	26060	APPL1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	640	BLK	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	1056	CEL	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	1056	CEL	OMIM:609812
HP:0012092	Abnormality of exocrine pancreas physiology	4760	NEUROD1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3651	PDX1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3651	PDX1	OMIM:260370
HP:0012092	Abnormality of exocrine pancreas physiology	6833	ABCC8	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	5078	PAX4	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3172	HNF4A	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	6927	HNF1A	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3630	INS	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	170302	ARX	ORPHA:452
HP:0012092	Abnormality of exocrine pancreas physiology	22827	PUF60	ORPHA:508498
HP:0012092	Abnormality of exocrine pancreas physiology	22827	PUF60	ORPHA:508488
HP:0012092	Abnormality of exocrine pancreas physiology	1497	CTNS	OMIM:219800
HP:0012092	Abnormality of exocrine pancreas physiology	2212	FCGR2A	OMIM:219700
HP:0012092	Abnormality of exocrine pancreas physiology	7040	TGFB1	OMIM:219700
HP:0012092	Abnormality of exocrine pancreas physiology	7040	TGFB1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	1080	CFTR	OMIM:219700
HP:0012092	Abnormality of exocrine pancreas physiology	1080	CFTR	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	1080	CFTR	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	51651	PTRH2	OMIM:616263
HP:0012092	Abnormality of exocrine pancreas physiology	51651	PTRH2	ORPHA:456312
HP:0012092	Abnormality of exocrine pancreas physiology	57003	CCDC47	OMIM:618268
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	OMIM:617052
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	23019	CNOT1	OMIM:618500
HP:0012092	Abnormality of exocrine pancreas physiology	537	ATP6AP1	OMIM:300972
HP:0012092	Abnormality of exocrine pancreas physiology	6928	HNF1B	OMIM:137920
HP:0012092	Abnormality of exocrine pancreas physiology	54914	FOCAD	OMIM:619991
HP:0012092	Abnormality of exocrine pancreas physiology	7468	NSD2	OMIM:619695
HP:0012092	Abnormality of exocrine pancreas physiology	8565	YARS1	OMIM:619418
HP:0012092	Abnormality of exocrine pancreas physiology	6774	STAT3	OMIM:615952
HP:0012092	Abnormality of exocrine pancreas physiology	2627	GATA6	ORPHA:2255
HP:0012092	Abnormality of exocrine pancreas physiology	5557	PRIM1	OMIM:620005
HP:0012092	Abnormality of exocrine pancreas physiology	256297	PTF1A	OMIM:615935
HP:0012092	Abnormality of exocrine pancreas physiology	8481	OFD1	ORPHA:2750
HP:0012092	Abnormality of exocrine pancreas physiology	9451	EIF2AK3	ORPHA:1667
HP:0012092	Abnormality of exocrine pancreas physiology	11330	CTRC	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	6690	SPINK1	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	5645	PRSS2	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	5644	PRSS1	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	197131	UBR1	ORPHA:2315
HP:0012092	Abnormality of exocrine pancreas physiology	197131	UBR1	OMIM:243800
HP:0012092	Abnormality of exocrine pancreas physiology	6804	STX1A	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	2947	GSTM3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	2729	GCLC	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	1084	CEACAM3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	6556	SLC11A1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	51164	DCTN4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3783	KCNN4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	4282	MIF	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	1909	EDNRA	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	6550	SLC9A3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3162	HMOX1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	115019	SLC26A9	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3077	HFE	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	11254	SLC6A14	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	5265	SERPINA1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	22802	CLCA4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	4680	CEACAM6	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	8567	MADD	OMIM:619004
HP:0012092	Abnormality of exocrine pancreas physiology	6729	SRP54	OMIM:618752
HP:0012092	Abnormality of exocrine pancreas physiology	6729	SRP54	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	6729	SRP54	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	51119	SBDS	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	51119	SBDS	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	79631	EFL1	OMIM:617941
HP:0012092	Abnormality of exocrine pancreas physiology	79631	EFL1	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	672	BRCA1	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	285282	RABL3	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	7157	TP53	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	675	BRCA2	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	3845	KRAS	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	1029	CDKN2A	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	79728	PALB2	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	4089	SMAD4	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	23022	PALLD	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	57570	TRMT5	OMIM:616539
HP:0012092	Abnormality of exocrine pancreas physiology	182	JAG1	OMIM:118450
HP:0012092	Abnormality of exocrine pancreas physiology	84701	COX4I2	OMIM:612714
HP:0012092	Abnormality of exocrine pancreas physiology	6338	SCNN1B	OMIM:211400
HP:0012092	Abnormality of exocrine pancreas physiology	6337	SCNN1A	OMIM:613021
HP:0012093	Abnormality of endocrine pancreas physiology	3930	LBR	OMIM:215140
HP:0012093	Abnormality of endocrine pancreas physiology	6566	SLC16A1	OMIM:610021
HP:0012093	Abnormality of endocrine pancreas physiology	129563	DIS3L2	OMIM:267000
HP:0012093	Abnormality of endocrine pancreas physiology	3172	HNF4A	ORPHA:263455
HP:0012093	Abnormality of endocrine pancreas physiology	2719	GPC3	OMIM:312870
HP:0012093	Abnormality of endocrine pancreas physiology	2719	GPC3	ORPHA:373
HP:0012093	Abnormality of endocrine pancreas physiology	2239	GPC4	OMIM:312870
HP:0012093	Abnormality of endocrine pancreas physiology	2239	GPC4	ORPHA:373
HP:0012093	Abnormality of endocrine pancreas physiology	2184	FAH	OMIM:276700
HP:0012093	Abnormality of endocrine pancreas physiology	6833	ABCC8	OMIM:256450
HP:0012093	Abnormality of endocrine pancreas physiology	3643	INSR	OMIM:246200
HP:0012093	Abnormality of endocrine pancreas physiology	6774	STAT3	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	2645	GCK	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	3651	PDX1	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	3630	INS	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	9451	EIF2AK3	OMIM:226980
HP:0012093	Abnormality of endocrine pancreas physiology	5078	PAX4	OMIM:612227
HP:0012093	Abnormality of endocrine pancreas physiology	7528	YY1	ORPHA:97279
HP:0012093	Abnormality of endocrine pancreas physiology	2746	GLUD1	OMIM:606762
HP:0012093	Abnormality of endocrine pancreas physiology	389692	MAFA	OMIM:147630
HP:0012093	Abnormality of endocrine pancreas physiology	3767	KCNJ11	ORPHA:79644
HP:0012093	Abnormality of endocrine pancreas physiology	7428	VHL	ORPHA:892
HP:0012093	Abnormality of endocrine pancreas physiology	595	CCND1	ORPHA:892
HP:0012093	Abnormality of endocrine pancreas physiology	4221	MEN1	OMIM:131100
HP:0012093	Abnormality of endocrine pancreas physiology	57817	HAMP	ORPHA:79230
HP:0012093	Abnormality of endocrine pancreas physiology	148738	HJV	ORPHA:79230
HP:0012093	Abnormality of endocrine pancreas physiology	6928	HNF1B	ORPHA:93111
HP:0012093	Abnormality of endocrine pancreas physiology	1027	CDKN1B	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1027	CDKN1B	ORPHA:276152
HP:0012093	Abnormality of endocrine pancreas physiology	1026	CDKN1A	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1030	CDKN2B	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1031	CDKN2C	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	7351	UCP2	ORPHA:276556
HP:0012093	Abnormality of endocrine pancreas physiology	2642	GCGR	OMIM:619290
HP:0012094	Abnormal pancreas size	2627	GATA6	OMIM:600001
HP:0012094	Abnormal pancreas size	2627	GATA6	ORPHA:2255
HP:0012094	Abnormal pancreas size	3767	KCNJ11	ORPHA:552
HP:0012094	Abnormal pancreas size	3767	KCNJ11	ORPHA:99885
HP:0012094	Abnormal pancreas size	8462	KLF11	ORPHA:552
HP:0012094	Abnormal pancreas size	2645	GCK	ORPHA:552
HP:0012094	Abnormal pancreas size	2645	GCK	ORPHA:99885
HP:0012094	Abnormal pancreas size	26060	APPL1	ORPHA:552
HP:0012094	Abnormal pancreas size	640	BLK	ORPHA:552
HP:0012094	Abnormal pancreas size	1056	CEL	ORPHA:552
HP:0012094	Abnormal pancreas size	4760	NEUROD1	ORPHA:552
HP:0012094	Abnormal pancreas size	3651	PDX1	ORPHA:552
HP:0012094	Abnormal pancreas size	3651	PDX1	OMIM:260370
HP:0012094	Abnormal pancreas size	3651	PDX1	ORPHA:99885
HP:0012094	Abnormal pancreas size	6833	ABCC8	ORPHA:552
HP:0012094	Abnormal pancreas size	6833	ABCC8	ORPHA:99885
HP:0012094	Abnormal pancreas size	5078	PAX4	ORPHA:552
HP:0012094	Abnormal pancreas size	3172	HNF4A	ORPHA:552
HP:0012094	Abnormal pancreas size	6927	HNF1A	ORPHA:552
HP:0012094	Abnormal pancreas size	3630	INS	ORPHA:552
HP:0012094	Abnormal pancreas size	3630	INS	ORPHA:99885
HP:0012094	Abnormal pancreas size	55315	SLC29A3	OMIM:602782
HP:0012094	Abnormal pancreas size	6928	HNF1B	OMIM:137920
HP:0012094	Abnormal pancreas size	54914	FOCAD	OMIM:619991
HP:0012094	Abnormal pancreas size	222546	RFX6	OMIM:615710
HP:0012094	Abnormal pancreas size	169792	GLIS3	OMIM:610199
HP:0012094	Abnormal pancreas size	256297	PTF1A	OMIM:615935
HP:0012094	Abnormal pancreas size	256297	PTF1A	OMIM:609069
HP:0012094	Abnormal pancreas size	6774	STAT3	ORPHA:99885
HP:0012094	Abnormal pancreas size	134218	DNAJC21	ORPHA:811
HP:0012094	Abnormal pancreas size	79631	EFL1	ORPHA:811
HP:0012094	Abnormal pancreas size	51119	SBDS	ORPHA:811
HP:0012094	Abnormal pancreas size	6729	SRP54	ORPHA:811
HP:0012094	Abnormal pancreas size	1028	CDKN1C	OMIM:130650
HP:0012094	Abnormal pancreas size	10984	KCNQ1OT1	OMIM:130650
HP:0012094	Abnormal pancreas size	3481	IGF2	OMIM:130650
HP:0012094	Abnormal pancreas size	3784	KCNQ1	OMIM:130650
HP:0012094	Abnormal pancreas size	51651	PTRH2	ORPHA:456312
HP:0012094	Abnormal pancreas size	64220	STRA6	ORPHA:2470
HP:0012094	Abnormal pancreas size	5915	RARB	ORPHA:2470
HP:0012094	Abnormal pancreas size	23019	CNOT1	ORPHA:556955
HP:0012094	Abnormal pancreas size	23019	CNOT1	OMIM:618500
HP:0012094	Abnormal pancreas size	3975	LHX1	ORPHA:261265
HP:0012095	Multiple joint dislocation	9469	CHST3	OMIM:245600
HP:0012095	Multiple joint dislocation	26229	B3GAT3	OMIM:245600
HP:0012095	Multiple joint dislocation	3835	KIF22	ORPHA:93360
HP:0012095	Multiple joint dislocation	126792	B3GALT6	ORPHA:536467
HP:0012095	Multiple joint dislocation	2783	GNB2	OMIM:619503
HP:0012095	Multiple joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0012095	Multiple joint dislocation	23233	EXOC6B	OMIM:618395
HP:0012095	Multiple joint dislocation	64412	GZF1	OMIM:617662
HP:0012098	Edema of the dorsum of feet	9373	PLAA	ORPHA:521426
HP:0012098	Edema of the dorsum of feet	7051	TGM1	ORPHA:281127
HP:0012098	Edema of the dorsum of feet	11342	RNF13	ORPHA:544503
HP:0012098	Edema of the dorsum of feet	9939	RBM8A	OMIM:274000
HP:0012098	Edema of the dorsum of feet	9326	ZNHIT3	OMIM:260565
HP:0012099	Abnormality of circulating catecholamine level	7428	VHL	ORPHA:892
HP:0012099	Abnormality of circulating catecholamine level	595	CCND1	ORPHA:892
HP:0012099	Abnormality of circulating catecholamine level	6392	SDHD	OMIM:168000
HP:0012099	Abnormality of circulating catecholamine level	8402	SLC25A11	OMIM:618464
HP:0012099	Abnormality of circulating catecholamine level	6391	SDHC	OMIM:605373
HP:0007126	Proximal amyotrophy	84196	USP48	ORPHA:96253
HP:0007126	Proximal amyotrophy	7157	TP53	ORPHA:96253
HP:0007126	Proximal amyotrophy	9101	USP8	ORPHA:96253
HP:0007126	Proximal amyotrophy	64072	CDH23	ORPHA:96253
HP:0007126	Proximal amyotrophy	2908	NR3C1	ORPHA:96253
HP:0007126	Proximal amyotrophy	673	BRAF	ORPHA:96253
HP:0007126	Proximal amyotrophy	546	ATRX	ORPHA:96253
HP:0007126	Proximal amyotrophy	79147	FKRP	OMIM:606612
HP:0007126	Proximal amyotrophy	79147	FKRP	ORPHA:370980
HP:0007126	Proximal amyotrophy	127833	SYT2	OMIM:616040
HP:0007126	Proximal amyotrophy	2521	FUS	OMIM:608030
HP:0007126	Proximal amyotrophy	22954	TRIM32	OMIM:254110
HP:0007126	Proximal amyotrophy	5566	PRKACA	ORPHA:189439
HP:0007126	Proximal amyotrophy	8622	PDE8B	ORPHA:189439
HP:0007126	Proximal amyotrophy	5573	PRKAR1A	ORPHA:189439
HP:0007126	Proximal amyotrophy	50940	PDE11A	ORPHA:189439
HP:0007126	Proximal amyotrophy	2673	GFPT1	OMIM:610542
HP:0007126	Proximal amyotrophy	6606	SMN1	OMIM:271150
HP:0007126	Proximal amyotrophy	6606	SMN1	OMIM:253300
HP:0007126	Proximal amyotrophy	825	CAPN3	OMIM:618129
HP:0007126	Proximal amyotrophy	825	CAPN3	OMIM:253600
HP:0007126	Proximal amyotrophy	4625	MYH7	OMIM:255160
HP:0007126	Proximal amyotrophy	5190	PEX6	ORPHA:95433
HP:0007126	Proximal amyotrophy	4556	MT-TE	ORPHA:2596
HP:0007126	Proximal amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007126	Proximal amyotrophy	7138	TNNT1	ORPHA:98902
HP:0007126	Proximal amyotrophy	7138	TNNT1	OMIM:605355
HP:0007126	Proximal amyotrophy	29954	POMT2	ORPHA:206559
HP:0007126	Proximal amyotrophy	9217	VAPB	OMIM:608627
HP:0007126	Proximal amyotrophy	9217	VAPB	OMIM:182980
HP:0007126	Proximal amyotrophy	7148	TNXB	OMIM:606408
HP:0007126	Proximal amyotrophy	92667	MGME1	OMIM:615084
HP:0007126	Proximal amyotrophy	51763	INPP5K	OMIM:617404
HP:0007126	Proximal amyotrophy	79798	ARMC5	ORPHA:189427
HP:0007126	Proximal amyotrophy	2778	GNAS	ORPHA:189427
HP:0007126	Proximal amyotrophy	8291	DYSF	ORPHA:45448
HP:0007126	Proximal amyotrophy	2218	FKTN	ORPHA:370980
HP:0007126	Proximal amyotrophy	729920	CRPPA	ORPHA:370980
HP:0007126	Proximal amyotrophy	10585	POMT1	ORPHA:370980
HP:0007126	Proximal amyotrophy	10342	TFG	OMIM:604484
HP:0007126	Proximal amyotrophy	6443	SGCB	OMIM:604286
HP:0007126	Proximal amyotrophy	6786	STIM1	OMIM:160565
HP:0007126	Proximal amyotrophy	285489	DOK7	OMIM:254300
HP:0007126	Proximal amyotrophy	59341	TRPV4	OMIM:606071
HP:0007126	Proximal amyotrophy	22880	MORC2	ORPHA:466768
HP:0007126	Proximal amyotrophy	1785	DNM2	OMIM:160150
HP:0007126	Proximal amyotrophy	64419	MTMR14	OMIM:160150
HP:0007126	Proximal amyotrophy	4000	LMNA	OMIM:613205
HP:0007126	Proximal amyotrophy	4000	LMNA	ORPHA:98855
HP:0007126	Proximal amyotrophy	4000	LMNA	ORPHA:98853
HP:0007126	Proximal amyotrophy	6444	SGCD	ORPHA:219
HP:0007126	Proximal amyotrophy	8557	TCAP	OMIM:601954
HP:0007126	Proximal amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0007126	Proximal amyotrophy	2273	FHL1	ORPHA:98863
HP:0007126	Proximal amyotrophy	2010	EMD	ORPHA:98863
HP:0007126	Proximal amyotrophy	79188	TMEM43	ORPHA:98853
HP:0007126	Proximal amyotrophy	23345	SYNE1	ORPHA:98853
HP:0007126	Proximal amyotrophy	23224	SYNE2	ORPHA:98853
HP:0007126	Proximal amyotrophy	65055	REEP1	ORPHA:101011
HP:0007126	Proximal amyotrophy	1778	DYNC1H1	OMIM:158600
HP:0007126	Proximal amyotrophy	80208	SPG11	OMIM:616668
HP:0007126	Proximal amyotrophy	203547	VMA21	OMIM:310440
HP:0007126	Proximal amyotrophy	4747	NEFL	ORPHA:101085
HP:0007126	Proximal amyotrophy	6607	SMN2	OMIM:253400
HP:0007126	Proximal amyotrophy	122622	ADSS1	ORPHA:482601
HP:0007126	Proximal amyotrophy	203859	ANO5	OMIM:613319
HP:0007126	Proximal amyotrophy	203859	ANO5	OMIM:611307
HP:0007126	Proximal amyotrophy	203859	ANO5	ORPHA:206549
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:597
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:424107
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:98905
HP:0009045	Exercise-induced rhabdomyolysis	37	ACADVL	ORPHA:26793
HP:0009045	Exercise-induced rhabdomyolysis	37	ACADVL	OMIM:201475
HP:0009045	Exercise-induced rhabdomyolysis	226	ALDOA	ORPHA:57
HP:0009045	Exercise-induced rhabdomyolysis	5837	PYGM	OMIM:232600
HP:0009045	Exercise-induced rhabdomyolysis	3939	LDHA	ORPHA:284426
HP:0009045	Exercise-induced rhabdomyolysis	779	CACNA1S	ORPHA:423
HP:0009045	Exercise-induced rhabdomyolysis	6261	RYR1	ORPHA:423
HP:0009046	Difficulty running	6445	SGCG	ORPHA:353
HP:0009046	Difficulty running	274	BIN1	ORPHA:169186
HP:0009046	Difficulty running	10290	SPEG	ORPHA:169186
HP:0009046	Difficulty running	6261	RYR1	ORPHA:169186
HP:0009046	Difficulty running	6261	RYR1	ORPHA:178145
HP:0009046	Difficulty running	6261	RYR1	OMIM:255320
HP:0009046	Difficulty running	6261	RYR1	ORPHA:98905
HP:0009046	Difficulty running	7273	TTN	ORPHA:169186
HP:0009046	Difficulty running	7273	TTN	OMIM:611705
HP:0009046	Difficulty running	10367	MICU1	OMIM:615673
HP:0009046	Difficulty running	10367	MICU1	ORPHA:401768
HP:0009046	Difficulty running	1778	DYNC1H1	OMIM:158600
HP:0009046	Difficulty running	1778	DYNC1H1	OMIM:614228
HP:0009046	Difficulty running	203859	ANO5	ORPHA:399096
HP:0009046	Difficulty running	203859	ANO5	OMIM:613319
HP:0009046	Difficulty running	5913	RAPSN	OMIM:616326
HP:0009046	Difficulty running	7415	VCP	ORPHA:435387
HP:0009046	Difficulty running	2318	FLNC	ORPHA:63273
HP:0009046	Difficulty running	79912	PYROXD1	OMIM:617258
HP:0009046	Difficulty running	5828	PEX2	OMIM:614867
HP:0009046	Difficulty running	4747	NEFL	ORPHA:99939
HP:0009046	Difficulty running	203547	VMA21	OMIM:310440
HP:0009046	Difficulty running	8291	DYSF	OMIM:253601
HP:0009046	Difficulty running	8291	DYSF	ORPHA:268
HP:0009046	Difficulty running	3748	KCNC3	ORPHA:98768
HP:0009046	Difficulty running	10049	DNAJB6	OMIM:603511
HP:0009046	Difficulty running	375790	AGRN	OMIM:615120
HP:0009046	Difficulty running	2273	FHL1	OMIM:300718
HP:0009046	Difficulty running	22880	MORC2	ORPHA:466768
HP:0009046	Difficulty running	84466	MEGF10	OMIM:614399
HP:0009046	Difficulty running	8565	YARS1	OMIM:608323
HP:0009046	Difficulty running	57104	PNPLA2	OMIM:610717
HP:0009046	Difficulty running	57104	PNPLA2	ORPHA:98908
HP:0009046	Difficulty running	29925	GMPPB	ORPHA:353327
HP:0009046	Difficulty running	2673	GFPT1	ORPHA:353327
HP:0009046	Difficulty running	1798	DPAGT1	ORPHA:353327
HP:0009046	Difficulty running	85365	ALG2	ORPHA:353327
HP:0009046	Difficulty running	199857	ALG14	ORPHA:353327
HP:0009046	Difficulty running	487	ATP2A1	OMIM:601003
HP:0009046	Difficulty running	23299	BICD2	OMIM:615290
HP:0009046	Difficulty running	65055	REEP1	ORPHA:101011
HP:0009046	Difficulty running	339855	KY	ORPHA:496689
HP:0009046	Difficulty running	84665	MYPN	ORPHA:171881
HP:0009046	Difficulty running	7169	TPM2	ORPHA:171881
HP:0009046	Difficulty running	7170	TPM3	ORPHA:171881
HP:0009046	Difficulty running	119559	SFXN4	OMIM:615578
HP:0009046	Difficulty running	64208	POPDC3	OMIM:618848
HP:0009046	Difficulty running	81545	FBXO38	OMIM:615575
HP:0009046	Difficulty running	122622	ADSS1	ORPHA:482601
HP:0009046	Difficulty running	4625	MYH7	OMIM:608358
HP:0009046	Difficulty running	4556	MT-TE	ORPHA:2596
HP:0009046	Difficulty running	79147	FKRP	ORPHA:34515
HP:0009046	Difficulty running	1303	COL12A1	OMIM:616471
HP:0009046	Difficulty running	8557	TCAP	OMIM:601954
HP:0009046	Difficulty running	390594	KBTBD13	OMIM:609273
HP:0009046	Difficulty running	3908	LAMA2	OMIM:618138
HP:0009046	Difficulty running	23534	TNPO3	OMIM:608423
HP:0009046	Difficulty running	9927	MFN2	ORPHA:99947
HP:0009046	Difficulty running	6786	STIM1	OMIM:160565
HP:0007340	Lower limb muscle weakness	1134	CHRNA1	OMIM:601462
HP:0007340	Lower limb muscle weakness	23111	SPART	OMIM:275900
HP:0007340	Lower limb muscle weakness	1410	CRYAB	OMIM:608810
HP:0007340	Lower limb muscle weakness	4524	MTHFR	ORPHA:395
HP:0007340	Lower limb muscle weakness	9897	WASHC5	ORPHA:100989
HP:0007340	Lower limb muscle weakness	9897	WASHC5	OMIM:603563
HP:0007340	Lower limb muscle weakness	91574	MTRFR	ORPHA:254930
HP:0007340	Lower limb muscle weakness	91574	MTRFR	OMIM:615035
HP:0007340	Lower limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0007340	Lower limb muscle weakness	6683	SPAST	ORPHA:100985
HP:0007340	Lower limb muscle weakness	6683	SPAST	OMIM:182601
HP:0007340	Lower limb muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0007340	Lower limb muscle weakness	9420	CYP7B1	OMIM:270800
HP:0007340	Lower limb muscle weakness	23345	SYNE1	ORPHA:88644
HP:0007340	Lower limb muscle weakness	80821	DDHD1	OMIM:609340
HP:0007340	Lower limb muscle weakness	80821	DDHD1	ORPHA:101008
HP:0007340	Lower limb muscle weakness	1593	CYP27A1	OMIM:213700
HP:0007340	Lower limb muscle weakness	825	CAPN3	OMIM:253600
HP:0007340	Lower limb muscle weakness	825	CAPN3	ORPHA:267
HP:0007340	Lower limb muscle weakness	6687	SPG7	ORPHA:99013
HP:0007340	Lower limb muscle weakness	6687	SPG7	OMIM:607259
HP:0007340	Lower limb muscle weakness	123606	NIPA1	OMIM:600363
HP:0007340	Lower limb muscle weakness	55187	VPS13D	OMIM:607317
HP:0007340	Lower limb muscle weakness	81790	RNF170	OMIM:619686
HP:0007340	Lower limb muscle weakness	729920	CRPPA	OMIM:616052
HP:0007340	Lower limb muscle weakness	8566	PDXK	OMIM:618511
HP:0007340	Lower limb muscle weakness	518	ATP5MC3	OMIM:619681
HP:0007340	Lower limb muscle weakness	63895	PIEZO2	OMIM:617146
HP:0007340	Lower limb muscle weakness	2782	GNB1	OMIM:616973
HP:0007340	Lower limb muscle weakness	3897	L1CAM	ORPHA:306617
HP:0007340	Lower limb muscle weakness	2581	GALC	ORPHA:206448
HP:0007340	Lower limb muscle weakness	25778	DSTYK	OMIM:270750
HP:0007340	Lower limb muscle weakness	51324	SPG21	OMIM:248900
HP:0007340	Lower limb muscle weakness	51324	SPG21	ORPHA:101001
HP:0007340	Lower limb muscle weakness	2273	FHL1	OMIM:300695
HP:0007340	Lower limb muscle weakness	51116	MRPS2	OMIM:617950
HP:0007340	Lower limb muscle weakness	84665	MYPN	ORPHA:171881
HP:0007340	Lower limb muscle weakness	7169	TPM2	ORPHA:171881
HP:0007340	Lower limb muscle weakness	9692	PRORP	OMIM:619737
HP:0007340	Lower limb muscle weakness	1716	DGUOK	ORPHA:329314
HP:0007340	Lower limb muscle weakness	118813	ZFYVE27	OMIM:610244
HP:0007340	Lower limb muscle weakness	5921	RASA1	ORPHA:90307
HP:0007340	Lower limb muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0007340	Lower limb muscle weakness	10939	AFG3L2	OMIM:614487
HP:0007340	Lower limb muscle weakness	823	CAPN1	OMIM:616907
HP:0007340	Lower limb muscle weakness	823	CAPN1	ORPHA:488594
HP:0007340	Lower limb muscle weakness	112812	FDX2	OMIM:251900
HP:0007340	Lower limb muscle weakness	857	CAV1	OMIM:606721
HP:0007340	Lower limb muscle weakness	5297	PI4KA	OMIM:619621
HP:0007340	Lower limb muscle weakness	10667	FARS2	OMIM:617046
HP:0007340	Lower limb muscle weakness	246243	RNASEH1	OMIM:616479
HP:0007340	Lower limb muscle weakness	11160	ERLIN2	OMIM:611225
HP:0007340	Lower limb muscle weakness	84668	HYCC1	OMIM:610532
HP:0007340	Lower limb muscle weakness	9907	AP5Z1	OMIM:613647
HP:0007340	Lower limb muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0007340	Lower limb muscle weakness	9531	BAG3	OMIM:612954
HP:0007340	Lower limb muscle weakness	2313	FLI1	ORPHA:370348
HP:0007340	Lower limb muscle weakness	5621	PRNP	ORPHA:356
HP:0007340	Lower limb muscle weakness	5621	PRNP	OMIM:137440
HP:0007340	Lower limb muscle weakness	79784	MYH14	ORPHA:397744
HP:0007340	Lower limb muscle weakness	9197	SLC33A1	ORPHA:171863
HP:0007340	Lower limb muscle weakness	5255	PHKA1	OMIM:300559
HP:0007340	Lower limb muscle weakness	4744	NEFH	OMIM:616924
HP:0007340	Lower limb muscle weakness	3839	KPNA3	OMIM:620106
HP:0007340	Lower limb muscle weakness	3839	KPNA3	ORPHA:171612
HP:0007340	Lower limb muscle weakness	8314	BAP1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	4771	NF2	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6598	SMARCB1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	5155	PDGFB	ORPHA:2495
HP:0007340	Lower limb muscle weakness	84231	TRAF7	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6608	SMO	ORPHA:2495
HP:0007340	Lower limb muscle weakness	207	AKT1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0007340	Lower limb muscle weakness	7015	TERT	ORPHA:2495
HP:0007340	Lower limb muscle weakness	51684	SUFU	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	1639	DCTN1	OMIM:607641
HP:0007340	Lower limb muscle weakness	3032	HADHB	ORPHA:746
HP:0007340	Lower limb muscle weakness	3030	HADHA	ORPHA:746
HP:0007340	Lower limb muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0007340	Lower limb muscle weakness	2556	GABRA3	ORPHA:79102
HP:0007340	Lower limb muscle weakness	779	CACNA1S	ORPHA:79102
HP:0007340	Lower limb muscle weakness	6606	SMN1	OMIM:253400
HP:0007340	Lower limb muscle weakness	6607	SMN2	OMIM:253400
HP:0007340	Lower limb muscle weakness	23503	ZFYVE26	OMIM:270700
HP:0007340	Lower limb muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0007340	Lower limb muscle weakness	4763	NF1	OMIM:162210
HP:0007340	Lower limb muscle weakness	6253	RTN2	OMIM:604805
HP:0007340	Lower limb muscle weakness	6253	RTN2	ORPHA:100993
HP:0007340	Lower limb muscle weakness	5165	PDK3	ORPHA:352675
HP:0007340	Lower limb muscle weakness	10342	TFG	ORPHA:90117
HP:0007340	Lower limb muscle weakness	23175	LPIN1	ORPHA:99845
HP:0007340	Lower limb muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0007340	Lower limb muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0007340	Lower limb muscle weakness	427	ASAH1	ORPHA:2590
HP:0007340	Lower limb muscle weakness	23636	NUP62	ORPHA:225154
HP:0007340	Lower limb muscle weakness	103	ADAR	ORPHA:225154
HP:0007340	Lower limb muscle weakness	81545	FBXO38	OMIM:615575
HP:0007340	Lower limb muscle weakness	3329	HSPD1	OMIM:605280
HP:0007340	Lower limb muscle weakness	3329	HSPD1	ORPHA:100994
HP:0007340	Lower limb muscle weakness	55681	SCYL2	ORPHA:1143
HP:0007340	Lower limb muscle weakness	84570	COL25A1	ORPHA:1143
HP:0007340	Lower limb muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0007340	Lower limb muscle weakness	9997	SCO2	ORPHA:521411
HP:0007340	Lower limb muscle weakness	57704	GBA2	OMIM:614409
HP:0007340	Lower limb muscle weakness	5354	PLP1	OMIM:312920
HP:0007340	Lower limb muscle weakness	51271	UBAP1	ORPHA:100993
HP:0007340	Lower limb muscle weakness	3798	KIF5A	ORPHA:100991
HP:0007340	Lower limb muscle weakness	3798	KIF5A	OMIM:604187
HP:0007340	Lower limb muscle weakness	3991	LIPE	OMIM:615980
HP:0007340	Lower limb muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0007340	Lower limb muscle weakness	10280	SIGMAR1	OMIM:614373
HP:0007340	Lower limb muscle weakness	16	AARS1	OMIM:613287
HP:0007340	Lower limb muscle weakness	2583	B4GALNT1	OMIM:609195
HP:0007340	Lower limb muscle weakness	7273	TTN	ORPHA:178464
HP:0007340	Lower limb muscle weakness	2137	EXTL3	ORPHA:508533
HP:0007340	Lower limb muscle weakness	51062	ATL1	ORPHA:100984
HP:0007340	Lower limb muscle weakness	10020	GNE	OMIM:605820
HP:0007340	Lower limb muscle weakness	3094	HINT1	ORPHA:324442
HP:0007340	Lower limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0007340	Lower limb muscle weakness	59341	TRPV4	OMIM:600175
HP:0007340	Lower limb muscle weakness	4137	MAPT	ORPHA:240094
HP:0007340	Lower limb muscle weakness	9782	MATR3	OMIM:606070
HP:0007340	Lower limb muscle weakness	7415	VCP	OMIM:616687
HP:0007340	Lower limb muscle weakness	7415	VCP	ORPHA:435387
HP:0007340	Lower limb muscle weakness	4311	MME	OMIM:617017
HP:0007340	Lower limb muscle weakness	4311	MME	ORPHA:497764
HP:0007340	Lower limb muscle weakness	4508	MT-ATP6	ORPHA:320360
HP:0007340	Lower limb muscle weakness	2617	GARS1	ORPHA:139536
HP:0007340	Lower limb muscle weakness	26580	BSCL2	ORPHA:139536
HP:0007340	Lower limb muscle weakness	26580	BSCL2	OMIM:619112
HP:0007340	Lower limb muscle weakness	65055	REEP1	ORPHA:139536
HP:0007340	Lower limb muscle weakness	11284	PNKP	ORPHA:459033
HP:0007340	Lower limb muscle weakness	55775	TDP1	ORPHA:94124
HP:0007340	Lower limb muscle weakness	4747	NEFL	OMIM:607684
HP:0007340	Lower limb muscle weakness	4747	NEFL	ORPHA:101085
HP:0007340	Lower limb muscle weakness	4000	LMNA	OMIM:181350
HP:0007340	Lower limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0007340	Lower limb muscle weakness	5339	PLEC	ORPHA:254361
HP:0007340	Lower limb muscle weakness	7879	RAB7A	OMIM:600882
HP:0007340	Lower limb muscle weakness	200205	IBA57	ORPHA:468661
HP:0007340	Lower limb muscle weakness	3714	JAG2	OMIM:619566
HP:0007340	Lower limb muscle weakness	6652	SORD	OMIM:618912
HP:0007340	Lower limb muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0007340	Lower limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0007340	Lower limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0007340	Lower limb muscle weakness	4625	MYH7	OMIM:160500
HP:0007340	Lower limb muscle weakness	4625	MYH7	ORPHA:437572
HP:0007340	Lower limb muscle weakness	3315	HSPB1	OMIM:608634
HP:0007340	Lower limb muscle weakness	122622	ADSS1	OMIM:617030
HP:0007340	Lower limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0007340	Lower limb muscle weakness	215	ABCD1	ORPHA:139399
HP:0007340	Lower limb muscle weakness	10908	PNPLA6	OMIM:612020
HP:0007340	Lower limb muscle weakness	7170	TPM3	OMIM:609284
HP:0007340	Lower limb muscle weakness	64856	VWA1	OMIM:619216
HP:0007340	Lower limb muscle weakness	54332	GDAP1	ORPHA:101097
HP:0007340	Lower limb muscle weakness	4547	MTTP	ORPHA:14
HP:0007340	Lower limb muscle weakness	8557	TCAP	OMIM:601954
HP:0007340	Lower limb muscle weakness	2705	GJB1	OMIM:302800
HP:0007340	Lower limb muscle weakness	547	KIF1A	OMIM:614213
HP:0007340	Lower limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0007340	Lower limb muscle weakness	8884	SLC5A6	OMIM:619903
HP:0007340	Lower limb muscle weakness	7453	WARS1	OMIM:617721
HP:0007340	Lower limb muscle weakness	55526	DHTKD1	OMIM:615025
HP:0007340	Lower limb muscle weakness	9131	AIFM1	OMIM:310490
HP:0007340	Lower limb muscle weakness	5376	PMP22	ORPHA:90658
HP:0007340	Lower limb muscle weakness	5376	PMP22	ORPHA:98916
HP:0007340	Lower limb muscle weakness	5376	PMP22	OMIM:145900
HP:0007340	Lower limb muscle weakness	121512	FGD4	OMIM:609311
HP:0007340	Lower limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0007340	Lower limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0007340	Lower limb muscle weakness	203859	ANO5	ORPHA:399096
HP:0007340	Lower limb muscle weakness	203859	ANO5	OMIM:613319
HP:0007340	Lower limb muscle weakness	203859	ANO5	ORPHA:206549
HP:0007340	Lower limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0007340	Lower limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0007340	Lower limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0007340	Lower limb muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0007340	Lower limb muscle weakness	400916	CHCHD10	ORPHA:276435
HP:0007340	Lower limb muscle weakness	9990	SLC12A6	OMIM:620068
HP:0007340	Lower limb muscle weakness	1785	DNM2	OMIM:160150
HP:0007340	Lower limb muscle weakness	64419	MTMR14	OMIM:160150
HP:0007340	Lower limb muscle weakness	6305	SBF1	OMIM:615284
HP:0007340	Lower limb muscle weakness	5375	PMP2	OMIM:618279
HP:0007340	Lower limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0007340	Lower limb muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0007340	Lower limb muscle weakness	4649	MYO9A	ORPHA:98914
HP:0007340	Lower limb muscle weakness	1305	COL13A1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	1103	CHAT	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6843	VAMP1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	375790	AGRN	ORPHA:98914
HP:0007340	Lower limb muscle weakness	127833	SYT2	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6616	SNAP25	ORPHA:98914
HP:0007340	Lower limb muscle weakness	26353	HSPB8	OMIM:158590
HP:0007340	Lower limb muscle weakness	7428	VHL	ORPHA:892
HP:0007340	Lower limb muscle weakness	595	CCND1	ORPHA:892
HP:0007340	Lower limb muscle weakness	23299	BICD2	OMIM:615290
HP:0007340	Lower limb muscle weakness	11117	EMILIN1	OMIM:620080
HP:0007340	Lower limb muscle weakness	1674	DES	ORPHA:98909
HP:0007340	Lower limb muscle weakness	80208	SPG11	OMIM:616668
HP:0007340	Lower limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0007340	Lower limb muscle weakness	57410	SCYL1	ORPHA:466794
HP:0007340	Lower limb muscle weakness	3098	HK1	ORPHA:99953
HP:0007340	Lower limb muscle weakness	3098	HK1	OMIM:605285
HP:0007340	Lower limb muscle weakness	126129	CPT1C	ORPHA:444099
HP:0007340	Lower limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0007340	Lower limb muscle weakness	23676	SMPX	OMIM:301075
HP:0007340	Lower limb muscle weakness	59345	GNB4	OMIM:615185
HP:0007340	Lower limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0007340	Lower limb muscle weakness	8291	DYSF	ORPHA:45448
HP:0007340	Lower limb muscle weakness	4359	MPZ	OMIM:145900
HP:0007340	Lower limb muscle weakness	1959	EGR2	OMIM:145900
HP:0007340	Lower limb muscle weakness	57716	PRX	OMIM:145900
HP:0007340	Lower limb muscle weakness	9927	MFN2	ORPHA:99947
HP:0007340	Lower limb muscle weakness	1757	SARDH	ORPHA:3129
HP:0007340	Lower limb muscle weakness	2218	FKTN	OMIM:611588
HP:0007340	Lower limb muscle weakness	2992	GYG1	OMIM:616199
HP:0009049	Peroneal muscle atrophy	4000	LMNA	OMIM:181350
HP:0009049	Peroneal muscle atrophy	4000	LMNA	ORPHA:98856
HP:0009049	Peroneal muscle atrophy	9897	WASHC5	ORPHA:100989
HP:0009049	Peroneal muscle atrophy	3094	HINT1	ORPHA:324442
HP:0009049	Peroneal muscle atrophy	203859	ANO5	ORPHA:399096
HP:0009049	Peroneal muscle atrophy	65055	REEP1	OMIM:614751
HP:0009049	Peroneal muscle atrophy	23230	VPS13A	ORPHA:2388
HP:0009049	Peroneal muscle atrophy	5376	PMP22	ORPHA:90658
HP:0009049	Peroneal muscle atrophy	7273	TTN	ORPHA:609
HP:0009049	Peroneal muscle atrophy	1674	DES	OMIM:181400
HP:0009049	Peroneal muscle atrophy	59341	TRPV4	OMIM:181405
HP:0009049	Peroneal muscle atrophy	26278	SACS	OMIM:270550
HP:0009050	Quadriceps muscle atrophy	6606	SMN1	OMIM:271150
HP:0009050	Quadriceps muscle atrophy	122622	ADSS1	ORPHA:482601
HP:0009050	Quadriceps muscle atrophy	203859	ANO5	OMIM:613319
HP:0009050	Quadriceps muscle atrophy	203859	ANO5	OMIM:611307
HP:0009050	Quadriceps muscle atrophy	203859	ANO5	ORPHA:206549
HP:0009050	Quadriceps muscle atrophy	6261	RYR1	ORPHA:597
HP:0009050	Quadriceps muscle atrophy	6261	RYR1	ORPHA:424107
HP:0009050	Quadriceps muscle atrophy	6261	RYR1	ORPHA:98905
HP:0009051	Increased muscle glycogen content	2548	GAA	OMIM:232300
HP:0009051	Increased muscle glycogen content	5213	PFKM	OMIM:232800
HP:0009051	Increased muscle glycogen content	5213	PFKM	ORPHA:371
HP:0009051	Increased muscle glycogen content	5257	PHKB	OMIM:261750
HP:0009051	Increased muscle glycogen content	4556	MT-TE	ORPHA:254864
HP:0009051	Increased muscle glycogen content	55687	TRMU	ORPHA:254864
HP:0009051	Increased muscle glycogen content	55154	MSTO1	ORPHA:502423
HP:0009051	Increased muscle glycogen content	2027	ENO3	OMIM:612932
HP:0009051	Increased muscle glycogen content	5837	PYGM	ORPHA:368
HP:0009051	Increased muscle glycogen content	5255	PHKA1	OMIM:300559
HP:0009051	Increased muscle glycogen content	5256	PHKA2	ORPHA:264580
HP:0009051	Increased muscle glycogen content	5261	PHKG2	ORPHA:264580
HP:0009054	Scapuloperoneal myopathy	2273	FHL1	OMIM:300695
HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	84823	LMNB2	OMIM:608709
HP:0009058	Increased muscle lipid content	1376	CPT2	OMIM:608836
HP:0009058	Increased muscle lipid content	1376	CPT2	ORPHA:228302
HP:0009058	Increased muscle lipid content	57190	SELENON	ORPHA:324604
HP:0009058	Increased muscle lipid content	4625	MYH7	ORPHA:324604
HP:0009058	Increased muscle lipid content	7273	TTN	ORPHA:324604
HP:0009058	Increased muscle lipid content	7273	TTN	ORPHA:609
HP:0009058	Increased muscle lipid content	84665	MYPN	ORPHA:171439
HP:0009058	Increased muscle lipid content	58	ACTA1	ORPHA:171439
HP:0009058	Increased muscle lipid content	7169	TPM2	ORPHA:171439
HP:0009058	Increased muscle lipid content	390594	KBTBD13	ORPHA:171439
HP:0009058	Increased muscle lipid content	4703	NEB	ORPHA:171439
HP:0009058	Increased muscle lipid content	10324	KLHL41	ORPHA:171439
HP:0009058	Increased muscle lipid content	7170	TPM3	ORPHA:171439
HP:0009058	Increased muscle lipid content	57104	PNPLA2	ORPHA:565612
HP:0009058	Increased muscle lipid content	57104	PNPLA2	OMIM:610717
HP:0009058	Increased muscle lipid content	4556	MT-TE	ORPHA:254864
HP:0009058	Increased muscle lipid content	55687	TRMU	ORPHA:254864
HP:0009058	Increased muscle lipid content	1303	COL12A1	ORPHA:610
HP:0009058	Increased muscle lipid content	1291	COL6A1	ORPHA:610
HP:0009058	Increased muscle lipid content	1292	COL6A2	ORPHA:610
HP:0009058	Increased muscle lipid content	1293	COL6A3	ORPHA:610
HP:0009058	Increased muscle lipid content	84570	COL25A1	ORPHA:91411
HP:0009058	Increased muscle lipid content	79776	ZFHX4	ORPHA:91411
HP:0009058	Increased muscle lipid content	1339	COX6A2	OMIM:619062
HP:0009058	Increased muscle lipid content	6329	SCN4A	ORPHA:681
HP:0009058	Increased muscle lipid content	779	CACNA1S	ORPHA:681
HP:0009058	Increased muscle lipid content	779	CACNA1S	ORPHA:79102
HP:0009058	Increased muscle lipid content	10008	KCNE3	ORPHA:681
HP:0009058	Increased muscle lipid content	4697	NDUFA4	OMIM:619065
HP:0009058	Increased muscle lipid content	4574	MT-TS1	OMIM:220110
HP:0009058	Increased muscle lipid content	4570	MT-TN	OMIM:220110
HP:0009058	Increased muscle lipid content	6834	SURF1	OMIM:220110
HP:0009058	Increased muscle lipid content	8802	SUCLG1	ORPHA:17
HP:0009058	Increased muscle lipid content	51099	ABHD5	ORPHA:98907
HP:0009058	Increased muscle lipid content	4285	MIPEP	OMIM:617228
HP:0009058	Increased muscle lipid content	4724	NDUFS4	OMIM:252010
HP:0009058	Increased muscle lipid content	10939	AFG3L2	OMIM:614487
HP:0009058	Increased muscle lipid content	400916	CHCHD10	ORPHA:457050
HP:0009058	Increased muscle lipid content	56997	COQ8A	OMIM:612016
HP:0009058	Increased muscle lipid content	55154	MSTO1	ORPHA:502423
HP:0009058	Increased muscle lipid content	100134444	KCNJ18	ORPHA:79102
HP:0009058	Increased muscle lipid content	2556	GABRA3	ORPHA:79102
HP:0009058	Increased muscle lipid content	23479	ISCU	OMIM:255125
HP:0009058	Increased muscle lipid content	6389	SDHA	OMIM:252011
HP:0009059	Congenital generalized lipodystrophy	3763	KCNJ6	ORPHA:435628
HP:0009059	Congenital generalized lipodystrophy	11128	POLR3A	ORPHA:3455
HP:0009060	Scapular muscle atrophy	825	CAPN3	ORPHA:267
HP:0009060	Scapular muscle atrophy	2218	FKTN	OMIM:611588
HP:0009060	Scapular muscle atrophy	59341	TRPV4	OMIM:181405
HP:0009062	Infantile axial hypotonia	2137	EXTL3	ORPHA:508533
HP:0009062	Infantile axial hypotonia	1798	DPAGT1	ORPHA:86309
HP:0009062	Infantile axial hypotonia	84340	GFM2	ORPHA:565624
HP:0009062	Infantile axial hypotonia	3074	HEXB	ORPHA:309155
HP:0009062	Infantile axial hypotonia	2260	FGFR1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	2260	FGFR1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	28514	DLL1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	28514	DLL1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	28514	DLL1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	28514	DLL1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	10735	STAG2	ORPHA:220386
HP:0009062	Infantile axial hypotonia	10735	STAG2	ORPHA:93925
HP:0009062	Infantile axial hypotonia	2253	FGF8	ORPHA:220386
HP:0009062	Infantile axial hypotonia	2253	FGF8	ORPHA:93926
HP:0009062	Infantile axial hypotonia	2253	FGF8	ORPHA:93924
HP:0009062	Infantile axial hypotonia	2253	FGF8	ORPHA:93925
HP:0009062	Infantile axial hypotonia	8243	SMC1A	ORPHA:220386
HP:0009062	Infantile axial hypotonia	6496	SIX3	ORPHA:220386
HP:0009062	Infantile axial hypotonia	6496	SIX3	ORPHA:93926
HP:0009062	Infantile axial hypotonia	6496	SIX3	ORPHA:93924
HP:0009062	Infantile axial hypotonia	6496	SIX3	ORPHA:93925
HP:0009062	Infantile axial hypotonia	7050	TGIF1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	7050	TGIF1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	7050	TGIF1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	7050	TGIF1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	4838	NODAL	ORPHA:220386
HP:0009062	Infantile axial hypotonia	4838	NODAL	ORPHA:93926
HP:0009062	Infantile axial hypotonia	4838	NODAL	ORPHA:93924
HP:0009062	Infantile axial hypotonia	4838	NODAL	ORPHA:93925
HP:0009062	Infantile axial hypotonia	6469	SHH	ORPHA:220386
HP:0009062	Infantile axial hypotonia	6469	SHH	ORPHA:93926
HP:0009062	Infantile axial hypotonia	6469	SHH	ORPHA:93924
HP:0009062	Infantile axial hypotonia	6469	SHH	ORPHA:93925
HP:0009062	Infantile axial hypotonia	7546	ZIC2	ORPHA:220386
HP:0009062	Infantile axial hypotonia	7546	ZIC2	ORPHA:93926
HP:0009062	Infantile axial hypotonia	7546	ZIC2	ORPHA:93924
HP:0009062	Infantile axial hypotonia	7546	ZIC2	ORPHA:93925
HP:0009062	Infantile axial hypotonia	6491	STIL	ORPHA:220386
HP:0009062	Infantile axial hypotonia	6491	STIL	ORPHA:93926
HP:0009062	Infantile axial hypotonia	6491	STIL	ORPHA:93924
HP:0009062	Infantile axial hypotonia	6491	STIL	ORPHA:93925
HP:0009062	Infantile axial hypotonia	2619	GAS1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	2619	GAS1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	2619	GAS1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	2619	GAS1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	84976	DISP1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	84976	DISP1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	84976	DISP1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	84976	DISP1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	2736	GLI2	ORPHA:220386
HP:0009062	Infantile axial hypotonia	2736	GLI2	ORPHA:93926
HP:0009062	Infantile axial hypotonia	2736	GLI2	ORPHA:93924
HP:0009062	Infantile axial hypotonia	2736	GLI2	ORPHA:93925
HP:0009062	Infantile axial hypotonia	8928	FOXH1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	8928	FOXH1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	8928	FOXH1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	8928	FOXH1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	5727	PTCH1	ORPHA:220386
HP:0009062	Infantile axial hypotonia	5727	PTCH1	ORPHA:93926
HP:0009062	Infantile axial hypotonia	5727	PTCH1	ORPHA:93924
HP:0009062	Infantile axial hypotonia	5727	PTCH1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	50937	CDON	ORPHA:220386
HP:0009062	Infantile axial hypotonia	50937	CDON	ORPHA:93926
HP:0009062	Infantile axial hypotonia	50937	CDON	ORPHA:93924
HP:0009062	Infantile axial hypotonia	50937	CDON	ORPHA:93925
HP:0009062	Infantile axial hypotonia	815	CAMK2A	OMIM:617798
HP:0009062	Infantile axial hypotonia	10381	TUBB3	ORPHA:300570
HP:0009062	Infantile axial hypotonia	2581	GALC	ORPHA:206436
HP:0009062	Infantile axial hypotonia	5660	PSAP	ORPHA:206436
HP:0009062	Infantile axial hypotonia	2671	GFER	ORPHA:330054
HP:0009062	Infantile axial hypotonia	25914	RTTN	ORPHA:468631
HP:0009062	Infantile axial hypotonia	4125	MAN2B1	ORPHA:309282
HP:0009062	Infantile axial hypotonia	29968	PSAT1	ORPHA:284417
HP:0009062	Infantile axial hypotonia	6261	RYR1	ORPHA:424107
HP:0009062	Infantile axial hypotonia	2760	GM2A	ORPHA:309246
HP:0009062	Infantile axial hypotonia	5917	RARS1	ORPHA:438114
HP:0009062	Infantile axial hypotonia	2903	GRIN2A	ORPHA:289266
HP:0009062	Infantile axial hypotonia	283989	TSEN54	ORPHA:2524
HP:0009062	Infantile axial hypotonia	116461	TSEN15	ORPHA:2524
HP:0009062	Infantile axial hypotonia	79042	TSEN34	ORPHA:2524
HP:0009062	Infantile axial hypotonia	80746	TSEN2	ORPHA:2524
HP:0009062	Infantile axial hypotonia	51091	SEPSECS	ORPHA:2524
HP:0009062	Infantile axial hypotonia	56947	MFF	ORPHA:485421
HP:0009062	Infantile axial hypotonia	2782	GNB1	OMIM:616973
HP:0009062	Infantile axial hypotonia	10352	WARS2	ORPHA:572798
HP:0009062	Infantile axial hypotonia	58497	PRUNE1	ORPHA:544469
HP:0009062	Infantile axial hypotonia	5081	PAX7	OMIM:618578
HP:0009062	Infantile axial hypotonia	23007	PLCH1	ORPHA:93925
HP:0009062	Infantile axial hypotonia	2683	B4GALT1	ORPHA:79332
HP:0009062	Infantile axial hypotonia	23516	SLC39A14	ORPHA:521406
HP:0009062	Infantile axial hypotonia	267010	RNU12	ORPHA:512260
HP:0009064	Generalized lipodystrophy	56984	PSMG2	OMIM:619183
HP:0009064	Generalized lipodystrophy	26580	BSCL2	ORPHA:363400
HP:0009064	Generalized lipodystrophy	10269	ZMPSTE24	OMIM:608612
HP:0009064	Generalized lipodystrophy	10269	ZMPSTE24	ORPHA:90154
HP:0009064	Generalized lipodystrophy	857	CAV1	OMIM:612526
HP:0009064	Generalized lipodystrophy	4000	LMNA	ORPHA:79474
HP:0009064	Generalized lipodystrophy	2200	FBN1	OMIM:616914
HP:0009064	Generalized lipodystrophy	10651	MTX2	OMIM:619127
HP:0009064	Generalized lipodystrophy	3763	KCNJ6	OMIM:614098
HP:0006785	Limb-girdle muscular dystrophy	4000	LMNA	OMIM:181350
HP:0006785	Limb-girdle muscular dystrophy	4000	LMNA	ORPHA:98855
HP:0006785	Limb-girdle muscular dystrophy	4000	LMNA	ORPHA:98853
HP:0006785	Limb-girdle muscular dystrophy	58	ACTA1	ORPHA:97240
HP:0006785	Limb-girdle muscular dystrophy	1605	DAG1	ORPHA:280333
HP:0006785	Limb-girdle muscular dystrophy	60684	TRAPPC11	ORPHA:369840
HP:0006785	Limb-girdle muscular dystrophy	60684	TRAPPC11	ORPHA:369847
HP:0006785	Limb-girdle muscular dystrophy	60684	TRAPPC11	OMIM:615356
HP:0006785	Limb-girdle muscular dystrophy	729920	CRPPA	OMIM:616052
HP:0006785	Limb-girdle muscular dystrophy	56983	POGLUT1	OMIM:617232
HP:0006785	Limb-girdle muscular dystrophy	3178	HNRNPA1	OMIM:615424
HP:0006785	Limb-girdle muscular dystrophy	9987	HNRNPDL	OMIM:609115
HP:0006785	Limb-girdle muscular dystrophy	54344	DPM3	OMIM:612937
HP:0006785	Limb-girdle muscular dystrophy	2273	FHL1	ORPHA:98863
HP:0006785	Limb-girdle muscular dystrophy	2010	EMD	ORPHA:98863
HP:0006785	Limb-girdle muscular dystrophy	79188	TMEM43	ORPHA:98853
HP:0006785	Limb-girdle muscular dystrophy	23345	SYNE1	ORPHA:98853
HP:0006785	Limb-girdle muscular dystrophy	23224	SYNE2	ORPHA:98853
HP:0006785	Limb-girdle muscular dystrophy	203859	ANO5	ORPHA:206549
HP:0006785	Limb-girdle muscular dystrophy	6442	SGCA	OMIM:608099
HP:0006785	Limb-girdle muscular dystrophy	29954	POMT2	ORPHA:206559
HP:0009069	Lethal infantile mitochondrial myopathy	4576	MT-TT	OMIM:551000
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1716	DGUOK	OMIM:617070
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	56652	TWNK	OMIM:607459
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	56652	TWNK	OMIM:609286
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	92667	MGME1	OMIM:615084
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	3980	LIG3	OMIM:619780
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1763	DNA2	OMIM:615156
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	50484	RRM2B	OMIM:613077
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1890	TYMP	OMIM:603041
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	5428	POLG	OMIM:613662
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	7084	TK2	OMIM:609560
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	7084	TK2	OMIM:617069
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	11232	POLG2	OMIM:618528
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	8802	SUCLG1	OMIM:245400
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1468	SLC25A10	OMIM:618972
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	291	SLC25A4	OMIM:617184
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	55750	AGK	OMIM:212350
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	7156	TOP3A	OMIM:618097
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	498	ATP5F1A	OMIM:616045
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	7019	TFAM	OMIM:617156
HP:0009071	Inflammatory myopathy	859	CAV3	OMIM:123320
HP:0009071	Inflammatory myopathy	7317	UBA1	ORPHA:1145
HP:0009071	Inflammatory myopathy	9782	MATR3	ORPHA:600
HP:0009072	Decreased Achilles reflex	55149	MTPAP	OMIM:613672
HP:0009072	Decreased Achilles reflex	81545	FBXO38	OMIM:615575
HP:0009072	Decreased Achilles reflex	8291	DYSF	OMIM:254130
HP:0009072	Decreased Achilles reflex	23299	BICD2	OMIM:615290
HP:0009072	Decreased Achilles reflex	200205	IBA57	ORPHA:468661
HP:0009072	Decreased Achilles reflex	54332	GDAP1	ORPHA:99948
HP:0009072	Decreased Achilles reflex	5165	PDK3	OMIM:300905
HP:0009072	Decreased Achilles reflex	1410	CRYAB	OMIM:608810
HP:0009072	Decreased Achilles reflex	122622	ADSS1	ORPHA:482601
HP:0009072	Decreased Achilles reflex	11155	LDB3	ORPHA:98912
HP:0009072	Decreased Achilles reflex	4625	MYH7	ORPHA:437572
HP:0009073	Progressive proximal muscle weakness	5339	PLEC	ORPHA:254361
HP:0009073	Progressive proximal muscle weakness	4568	MT-TL2	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4567	MT-TL1	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4570	MT-TN	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4574	MT-TS1	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	7084	TK2	ORPHA:254875
HP:0009073	Progressive proximal muscle weakness	203859	ANO5	ORPHA:399096
HP:0009073	Progressive proximal muscle weakness	60684	TRAPPC11	ORPHA:369847
HP:0009073	Progressive proximal muscle weakness	8291	DYSF	ORPHA:178400
HP:0009073	Progressive proximal muscle weakness	51099	ABHD5	ORPHA:98907
HP:0009073	Progressive proximal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0009073	Progressive proximal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0009073	Progressive proximal muscle weakness	4703	NEB	ORPHA:399103
HP:0009073	Progressive proximal muscle weakness	7415	VCP	OMIM:167320
HP:0009073	Progressive proximal muscle weakness	90523	MLIP	OMIM:620138
HP:0009073	Progressive proximal muscle weakness	9499	MYOT	ORPHA:98911
HP:0009073	Progressive proximal muscle weakness	11155	LDB3	ORPHA:98912
HP:0009073	Progressive proximal muscle weakness	11155	LDB3	OMIM:609452
HP:0009073	Progressive proximal muscle weakness	4556	MT-TE	ORPHA:2596
HP:0009073	Progressive proximal muscle weakness	5837	PYGM	ORPHA:368
HP:0009073	Progressive proximal muscle weakness	1303	COL12A1	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1291	COL6A1	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1292	COL6A2	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1293	COL6A3	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0009073	Progressive proximal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003200	Ragged-red muscle fibers	4558	MT-TF	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4558	MT-TF	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4558	MT-TF	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4558	MT-TF	OMIM:545000
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	ORPHA:663
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	OMIM:545000
HP:0003200	Ragged-red muscle fibers	4567	MT-TL1	ORPHA:480
HP:0003200	Ragged-red muscle fibers	4549	MT-RNR1	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4574	MT-TS1	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4574	MT-TS1	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4574	MT-TS1	ORPHA:663
HP:0003200	Ragged-red muscle fibers	4574	MT-TS1	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4575	MT-TS2	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4575	MT-TS2	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4575	MT-TS2	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4571	MT-TP	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4571	MT-TP	OMIM:545000
HP:0003200	Ragged-red muscle fibers	4572	MT-TQ	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4572	MT-TQ	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4572	MT-TQ	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4540	MT-ND5	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4540	MT-ND5	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4540	MT-ND5	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4540	MT-ND5	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4566	MT-TK	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4566	MT-TK	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4566	MT-TK	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4566	MT-TK	ORPHA:1349
HP:0003200	Ragged-red muscle fibers	4566	MT-TK	OMIM:545000
HP:0003200	Ragged-red muscle fibers	4564	MT-TH	ORPHA:551
HP:0003200	Ragged-red muscle fibers	4564	MT-TH	ORPHA:550
HP:0003200	Ragged-red muscle fibers	291	SLC25A4	ORPHA:254892
HP:0003200	Ragged-red muscle fibers	291	SLC25A4	OMIM:609283
HP:0003200	Ragged-red muscle fibers	291	SLC25A4	OMIM:615418
HP:0003200	Ragged-red muscle fibers	5428	POLG	ORPHA:254892
HP:0003200	Ragged-red muscle fibers	5428	POLG	OMIM:603041
HP:0003200	Ragged-red muscle fibers	5428	POLG	OMIM:258450
HP:0003200	Ragged-red muscle fibers	5428	POLG	ORPHA:70595
HP:0003200	Ragged-red muscle fibers	5428	POLG	ORPHA:254886
HP:0003200	Ragged-red muscle fibers	5428	POLG	OMIM:613662
HP:0003200	Ragged-red muscle fibers	5428	POLG	ORPHA:298
HP:0003200	Ragged-red muscle fibers	5428	POLG	OMIM:157640
HP:0003200	Ragged-red muscle fibers	5428	POLG	OMIM:607459
HP:0003200	Ragged-red muscle fibers	56652	TWNK	ORPHA:254892
HP:0003200	Ragged-red muscle fibers	56652	TWNK	ORPHA:70595
HP:0003200	Ragged-red muscle fibers	56652	TWNK	OMIM:609286
HP:0003200	Ragged-red muscle fibers	56652	TWNK	OMIM:607459
HP:0003200	Ragged-red muscle fibers	11232	POLG2	ORPHA:254892
HP:0003200	Ragged-red muscle fibers	50484	RRM2B	ORPHA:254892
HP:0003200	Ragged-red muscle fibers	50484	RRM2B	ORPHA:298
HP:0003200	Ragged-red muscle fibers	50484	RRM2B	ORPHA:480
HP:0003200	Ragged-red muscle fibers	4512	MT-CO1	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4512	MT-CO1	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4513	MT-CO2	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4513	MT-CO2	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4514	MT-CO3	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4514	MT-CO3	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4578	MT-TW	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4578	MT-TW	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4578	MT-TW	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4541	MT-ND6	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4541	MT-ND6	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4541	MT-ND6	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4535	MT-ND1	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4535	MT-ND1	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4535	MT-ND1	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4538	MT-ND4	ORPHA:550
HP:0003200	Ragged-red muscle fibers	4538	MT-ND4	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	8106	PABPN1	ORPHA:270
HP:0003200	Ragged-red muscle fibers	8106	PABPN1	OMIM:164300
HP:0003200	Ragged-red muscle fibers	27089	UQCRQ	OMIM:615159
HP:0003200	Ragged-red muscle fibers	400916	CHCHD10	OMIM:616209
HP:0003200	Ragged-red muscle fibers	400916	CHCHD10	ORPHA:457050
HP:0003200	Ragged-red muscle fibers	400916	CHCHD10	ORPHA:276435
HP:0003200	Ragged-red muscle fibers	4744	NEFH	OMIM:616924
HP:0003200	Ragged-red muscle fibers	2673	GFPT1	OMIM:610542
HP:0003200	Ragged-red muscle fibers	2673	GFPT1	ORPHA:353327
HP:0003200	Ragged-red muscle fibers	1890	TYMP	OMIM:603041
HP:0003200	Ragged-red muscle fibers	1890	TYMP	ORPHA:298
HP:0003200	Ragged-red muscle fibers	92667	MGME1	ORPHA:352447
HP:0003200	Ragged-red muscle fibers	92667	MGME1	OMIM:615084
HP:0003200	Ragged-red muscle fibers	6687	SPG7	ORPHA:99013
HP:0003200	Ragged-red muscle fibers	4568	MT-TL2	ORPHA:663
HP:0003200	Ragged-red muscle fibers	4570	MT-TN	ORPHA:663
HP:0003200	Ragged-red muscle fibers	4536	MT-ND2	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4537	MT-ND3	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4577	MT-TV	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	4577	MT-TV	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4508	MT-ATP6	ORPHA:255210
HP:0003200	Ragged-red muscle fibers	7084	TK2	ORPHA:254886
HP:0003200	Ragged-red muscle fibers	7084	TK2	OMIM:617069
HP:0003200	Ragged-red muscle fibers	7084	TK2	OMIM:609560
HP:0003200	Ragged-red muscle fibers	79587	CARS2	ORPHA:477774
HP:0003200	Ragged-red muscle fibers	617	BCS1L	OMIM:124000
HP:0003200	Ragged-red muscle fibers	4625	MYH7	OMIM:160500
HP:0003200	Ragged-red muscle fibers	29925	GMPPB	ORPHA:353327
HP:0003200	Ragged-red muscle fibers	1798	DPAGT1	ORPHA:353327
HP:0003200	Ragged-red muscle fibers	85365	ALG2	ORPHA:353327
HP:0003200	Ragged-red muscle fibers	85365	ALG2	OMIM:616228
HP:0003200	Ragged-red muscle fibers	199857	ALG14	ORPHA:353327
HP:0003200	Ragged-red muscle fibers	3980	LIG3	ORPHA:298
HP:0003200	Ragged-red muscle fibers	4519	MT-CYB	OMIM:540000
HP:0003200	Ragged-red muscle fibers	4511	MT-TC	OMIM:540000
HP:0003200	Ragged-red muscle fibers	1716	DGUOK	OMIM:617070
HP:0003200	Ragged-red muscle fibers	27235	COQ2	OMIM:607426
HP:0003200	Ragged-red muscle fibers	80224	NUBPL	OMIM:618242
HP:0003200	Ragged-red muscle fibers	4724	NDUFS4	OMIM:252010
HP:0003200	Ragged-red muscle fibers	10939	AFG3L2	OMIM:610246
HP:0003200	Ragged-red muscle fibers	124454	EARS2	OMIM:614924
HP:0003200	Ragged-red muscle fibers	6389	SDHA	OMIM:252011
HP:0003200	Ragged-red muscle fibers	80324	PUS1	OMIM:600462
HP:0003200	Ragged-red muscle fibers	4556	MT-TE	ORPHA:254864
HP:0003200	Ragged-red muscle fibers	55687	TRMU	ORPHA:254864
HP:0003200	Ragged-red muscle fibers	4565	MT-TI	OMIM:545000
HP:0003200	Ragged-red muscle fibers	4509	MT-ATP8	ORPHA:480
HP:0003200	Ragged-red muscle fibers	8802	SUCLG1	ORPHA:17
HP:0003200	Ragged-red muscle fibers	115286	SLC25A26	OMIM:616794
HP:0003200	Ragged-red muscle fibers	51067	YARS2	OMIM:613561
HP:0003200	Ragged-red muscle fibers	125170	MIEF2	OMIM:619024
HP:0003200	Ragged-red muscle fibers	246243	RNASEH1	OMIM:616479
HP:0003200	Ragged-red muscle fibers	9131	AIFM1	OMIM:300816
HP:0003200	Ragged-red muscle fibers	79731	NARS2	OMIM:616239
HP:0003200	Ragged-red muscle fibers	284439	SLC25A42	OMIM:618416
HP:0003200	Ragged-red muscle fibers	81034	SLC25A32	OMIM:616839
HP:0009077	Weakness of long finger extensor muscles	4703	NEB	ORPHA:399103
HP:0009077	Weakness of long finger extensor muscles	7273	TTN	ORPHA:609
HP:0009077	Weakness of long finger extensor muscles	8878	SQSTM1	ORPHA:603
HP:0009077	Weakness of long finger extensor muscles	7072	TIA1	ORPHA:603
HP:0009077	Weakness of long finger extensor muscles	11155	LDB3	ORPHA:98912
HP:0009077	Weakness of long finger extensor muscles	3094	HINT1	ORPHA:324442
HP:0009077	Weakness of long finger extensor muscles	6329	SCN4A	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	1134	CHRNA1	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	4038	LRP4	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	1305	COL13A1	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	1140	CHRNB1	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	1144	CHRND	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	1145	CHRNE	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	4593	MUSK	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	5913	RAPSN	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	375790	AGRN	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	221264	AK9	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	285489	DOK7	ORPHA:98913
HP:0009077	Weakness of long finger extensor muscles	10020	GNE	ORPHA:602
HP:0009077	Weakness of long finger extensor muscles	4625	MYH7	OMIM:160500
HP:0009085	Alveolar ridge overgrowth	1718	DHCR24	OMIM:602398
HP:0009085	Alveolar ridge overgrowth	4914	NTRK1	ORPHA:642
HP:0009085	Alveolar ridge overgrowth	51611	DPH5	OMIM:620070
HP:0009085	Alveolar ridge overgrowth	2972	BRF1	ORPHA:444072
HP:0009085	Alveolar ridge overgrowth	6452	SH3BP2	OMIM:118400
HP:0009085	Alveolar ridge overgrowth	6913	TBX15	OMIM:260660
HP:0009085	Alveolar ridge overgrowth	10785	WDR4	OMIM:618346
HP:0009085	Alveolar ridge overgrowth	8481	OFD1	OMIM:311200
HP:0009085	Alveolar ridge overgrowth	6638	SNRPN	ORPHA:177907
HP:0009085	Alveolar ridge overgrowth	5277	PIGA	OMIM:301072
HP:0009085	Alveolar ridge overgrowth	8241	RBM10	ORPHA:2886
HP:0009085	Alveolar ridge overgrowth	79068	FTO	OMIM:612938
HP:0009085	Alveolar ridge overgrowth	10225	CD96	OMIM:211750
HP:0000171	Microglossia	1893	ECM1	ORPHA:530
HP:0000171	Microglossia	2737	GLI3	ORPHA:672
HP:0000171	Microglossia	2737	GLI3	OMIM:146510
HP:0000171	Microglossia	9791	PTDSS1	OMIM:151050
HP:0000171	Microglossia	5396	PRRX1	ORPHA:990
HP:0000171	Microglossia	5396	PRRX1	OMIM:202650
HP:0000171	Microglossia	5015	OTX2	ORPHA:990
HP:0000171	Microglossia	84823	LMNB2	OMIM:616540
HP:0000171	Microglossia	4750	NEK1	OMIM:263520
HP:0000171	Microglossia	5332	PLCB4	OMIM:614669
HP:0000171	Microglossia	5332	PLCB4	ORPHA:137888
HP:0000171	Microglossia	6608	SMO	OMIM:241800
HP:0000171	Microglossia	1717	DHCR7	OMIM:270400
HP:0000171	Microglossia	1717	DHCR7	ORPHA:818
HP:0000171	Microglossia	5932	RBBP8	OMIM:606744
HP:0000171	Microglossia	652	BMP4	OMIM:607932
HP:0000171	Microglossia	6913	TBX15	OMIM:260660
HP:0000171	Microglossia	4591	TRIM37	OMIM:253250
HP:0000171	Microglossia	1906	EDN1	ORPHA:137888
HP:0000171	Microglossia	2773	GNAI3	ORPHA:137888
HP:0000171	Microglossia	389827	MYMK	OMIM:254940
HP:0000218	High palate	875	CBS	ORPHA:394
HP:0000218	High palate	875	CBS	OMIM:236200
HP:0000218	High palate	2673	GFPT1	OMIM:608931
HP:0000218	High palate	2673	GFPT1	ORPHA:353327
HP:0000218	High palate	1145	CHRNE	OMIM:608931
HP:0000218	High palate	1145	CHRNE	ORPHA:98913
HP:0000218	High palate	23019	CNOT1	OMIM:618500
HP:0000218	High palate	23019	CNOT1	ORPHA:556955
HP:0000218	High palate	8216	LZTR1	OMIM:616564
HP:0000218	High palate	8216	LZTR1	OMIM:605275
HP:0000218	High palate	8216	LZTR1	ORPHA:648
HP:0000218	High palate	1144	CHRND	OMIM:616322
HP:0000218	High palate	1144	CHRND	OMIM:616323
HP:0000218	High palate	1144	CHRND	ORPHA:98913
HP:0000218	High palate	5913	RAPSN	OMIM:616326
HP:0000218	High palate	5913	RAPSN	OMIM:618388
HP:0000218	High palate	5913	RAPSN	ORPHA:98913
HP:0000218	High palate	6228	RPS23	OMIM:617412
HP:0000218	High palate	5238	PGM3	ORPHA:443811
HP:0000218	High palate	5238	PGM3	OMIM:615816
HP:0000218	High palate	4897	NRCAM	OMIM:619833
HP:0000218	High palate	1134	CHRNA1	OMIM:608930
HP:0000218	High palate	1134	CHRNA1	OMIM:601462
HP:0000218	High palate	1134	CHRNA1	ORPHA:98913
HP:0000218	High palate	2317	FLNB	ORPHA:56305
HP:0000218	High palate	3481	IGF2	ORPHA:231140
HP:0000218	High palate	283120	H19	ORPHA:231140
HP:0000218	High palate	283489	CHAMP1	OMIM:616579
HP:0000218	High palate	5184	PEPD	OMIM:170100
HP:0000218	High palate	84466	MEGF10	OMIM:614399
HP:0000218	High palate	4625	MYH7	OMIM:160500
HP:0000218	High palate	4625	MYH7	ORPHA:324604
HP:0000218	High palate	4625	MYH7	OMIM:255160
HP:0000218	High palate	4625	MYH7	ORPHA:59135
HP:0000218	High palate	55154	MSTO1	OMIM:617675
HP:0000218	High palate	55154	MSTO1	ORPHA:502423
HP:0000218	High palate	54453	RIN2	OMIM:613075
HP:0000218	High palate	54453	RIN2	ORPHA:217335
HP:0000218	High palate	113189	CHST14	ORPHA:2953
HP:0000218	High palate	113189	CHST14	OMIM:601776
HP:0000218	High palate	29940	DSE	ORPHA:2953
HP:0000218	High palate	29940	DSE	OMIM:615539
HP:0000218	High palate	79029	AFG2B	OMIM:619616
HP:0000218	High palate	9968	MED12	ORPHA:93932
HP:0000218	High palate	9968	MED12	ORPHA:776
HP:0000218	High palate	9968	MED12	OMIM:309520
HP:0000218	High palate	9968	MED12	OMIM:300895
HP:0000218	High palate	4604	MYBPC1	OMIM:618524
HP:0000218	High palate	4620	MYH2	OMIM:605637
HP:0000218	High palate	10484	SEC23A	OMIM:607812
HP:0000218	High palate	10484	SEC23A	ORPHA:50814
HP:0000218	High palate	23347	SMCHD1	OMIM:603457
HP:0000218	High palate	4330	MN1	OMIM:618774
HP:0000218	High palate	57231	SNX14	OMIM:616354
HP:0000218	High palate	57231	SNX14	ORPHA:397709
HP:0000218	High palate	8550	MAPKAPK5	OMIM:619869
HP:0000218	High palate	5813	PURA	ORPHA:438216
HP:0000218	High palate	5813	PURA	OMIM:616158
HP:0000218	High palate	5813	PURA	ORPHA:314655
HP:0000218	High palate	28514	DLL1	ORPHA:93926
HP:0000218	High palate	28514	DLL1	ORPHA:93924
HP:0000218	High palate	28514	DLL1	ORPHA:93925
HP:0000218	High palate	28514	DLL1	ORPHA:220386
HP:0000218	High palate	2253	FGF8	ORPHA:93926
HP:0000218	High palate	2253	FGF8	ORPHA:93924
HP:0000218	High palate	2253	FGF8	ORPHA:93925
HP:0000218	High palate	2253	FGF8	ORPHA:220386
HP:0000218	High palate	2253	FGF8	OMIM:612702
HP:0000218	High palate	6496	SIX3	ORPHA:93926
HP:0000218	High palate	6496	SIX3	ORPHA:93924
HP:0000218	High palate	6496	SIX3	ORPHA:93925
HP:0000218	High palate	6496	SIX3	ORPHA:220386
HP:0000218	High palate	7050	TGIF1	ORPHA:93926
HP:0000218	High palate	7050	TGIF1	ORPHA:93924
HP:0000218	High palate	7050	TGIF1	ORPHA:93925
HP:0000218	High palate	7050	TGIF1	ORPHA:220386
HP:0000218	High palate	4838	NODAL	ORPHA:93926
HP:0000218	High palate	4838	NODAL	ORPHA:93924
HP:0000218	High palate	4838	NODAL	ORPHA:93925
HP:0000218	High palate	4838	NODAL	ORPHA:220386
HP:0000218	High palate	6469	SHH	ORPHA:93926
HP:0000218	High palate	6469	SHH	ORPHA:93924
HP:0000218	High palate	6469	SHH	ORPHA:93925
HP:0000218	High palate	6469	SHH	ORPHA:220386
HP:0000218	High palate	7546	ZIC2	ORPHA:93926
HP:0000218	High palate	7546	ZIC2	ORPHA:93924
HP:0000218	High palate	7546	ZIC2	ORPHA:93925
HP:0000218	High palate	7546	ZIC2	OMIM:609637
HP:0000218	High palate	7546	ZIC2	ORPHA:220386
HP:0000218	High palate	6491	STIL	ORPHA:93926
HP:0000218	High palate	6491	STIL	ORPHA:93924
HP:0000218	High palate	6491	STIL	ORPHA:93925
HP:0000218	High palate	6491	STIL	ORPHA:220386
HP:0000218	High palate	2619	GAS1	ORPHA:93926
HP:0000218	High palate	2619	GAS1	ORPHA:93924
HP:0000218	High palate	2619	GAS1	ORPHA:93925
HP:0000218	High palate	2619	GAS1	ORPHA:220386
HP:0000218	High palate	84976	DISP1	ORPHA:93926
HP:0000218	High palate	84976	DISP1	ORPHA:93924
HP:0000218	High palate	84976	DISP1	ORPHA:93925
HP:0000218	High palate	84976	DISP1	ORPHA:220386
HP:0000218	High palate	2736	GLI2	ORPHA:93926
HP:0000218	High palate	2736	GLI2	ORPHA:93924
HP:0000218	High palate	2736	GLI2	ORPHA:93925
HP:0000218	High palate	2736	GLI2	ORPHA:220386
HP:0000218	High palate	8928	FOXH1	ORPHA:93926
HP:0000218	High palate	8928	FOXH1	ORPHA:93924
HP:0000218	High palate	8928	FOXH1	ORPHA:93925
HP:0000218	High palate	8928	FOXH1	ORPHA:220386
HP:0000218	High palate	5727	PTCH1	ORPHA:93926
HP:0000218	High palate	5727	PTCH1	ORPHA:93924
HP:0000218	High palate	5727	PTCH1	ORPHA:93925
HP:0000218	High palate	5727	PTCH1	ORPHA:220386
HP:0000218	High palate	50937	CDON	ORPHA:93926
HP:0000218	High palate	50937	CDON	ORPHA:93924
HP:0000218	High palate	50937	CDON	ORPHA:93925
HP:0000218	High palate	50937	CDON	ORPHA:220386
HP:0000218	High palate	23007	PLCH1	ORPHA:93925
HP:0000218	High palate	10735	STAG2	ORPHA:93925
HP:0000218	High palate	10735	STAG2	ORPHA:220386
HP:0000218	High palate	6602	SMARCD1	OMIM:618779
HP:0000218	High palate	4534	MTM1	ORPHA:596
HP:0000218	High palate	4534	MTM1	OMIM:310400
HP:0000218	High palate	4534	MTM1	ORPHA:456328
HP:0000218	High palate	3590	IL11RA	OMIM:614188
HP:0000218	High palate	23126	POGZ	OMIM:616364
HP:0000218	High palate	23126	POGZ	ORPHA:468678
HP:0000218	High palate	23259	DDHD2	OMIM:615033
HP:0000218	High palate	23259	DDHD2	ORPHA:320380
HP:0000218	High palate	51633	OTUD6B	OMIM:617452
HP:0000218	High palate	51633	OTUD6B	ORPHA:505237
HP:0000218	High palate	3845	KRAS	OMIM:615278
HP:0000218	High palate	3845	KRAS	ORPHA:648
HP:0000218	High palate	3845	KRAS	ORPHA:1340
HP:0000218	High palate	3845	KRAS	OMIM:609942
HP:0000218	High palate	92609	TIMM50	OMIM:617698
HP:0000218	High palate	51692	CPSF3	OMIM:619876
HP:0000218	High palate	8818	DPM2	OMIM:615042
HP:0000218	High palate	8818	DPM2	ORPHA:329178
HP:0000218	High palate	6329	SCN4A	OMIM:614198
HP:0000218	High palate	6329	SCN4A	ORPHA:98913
HP:0000218	High palate	56652	TWNK	OMIM:616138
HP:0000218	High palate	163175	LGI4	OMIM:617468
HP:0000218	High palate	2263	FGFR2	ORPHA:168624
HP:0000218	High palate	2263	FGFR2	OMIM:123790
HP:0000218	High palate	2263	FGFR2	OMIM:123500
HP:0000218	High palate	2263	FGFR2	ORPHA:93260
HP:0000218	High palate	2263	FGFR2	ORPHA:93258
HP:0000218	High palate	2263	FGFR2	ORPHA:93259
HP:0000218	High palate	2263	FGFR2	OMIM:101600
HP:0000218	High palate	200424	TET3	OMIM:618798
HP:0000218	High palate	79971	WLS	OMIM:619648
HP:0000218	High palate	23483	TGDS	OMIM:616145
HP:0000218	High palate	8565	YARS1	OMIM:619418
HP:0000218	High palate	3339	HSPG2	OMIM:255800
HP:0000218	High palate	3339	HSPG2	ORPHA:800
HP:0000218	High palate	6135	RPL11	ORPHA:124
HP:0000218	High palate	6138	RPL15	ORPHA:124
HP:0000218	High palate	6229	RPS24	ORPHA:124
HP:0000218	High palate	6125	RPL5	ORPHA:124
HP:0000218	High palate	6204	RPS10	ORPHA:124
HP:0000218	High palate	6224	RPS20	ORPHA:124
HP:0000218	High palate	6165	RPL35A	ORPHA:124
HP:0000218	High palate	2623	GATA1	ORPHA:124
HP:0000218	High palate	6223	RPS19	ORPHA:124
HP:0000218	High palate	6223	RPS19	OMIM:105650
HP:0000218	High palate	6232	RPS27	ORPHA:124
HP:0000218	High palate	6231	RPS26	ORPHA:124
HP:0000218	High palate	11224	RPL35	ORPHA:124
HP:0000218	High palate	6160	RPL31	ORPHA:124
HP:0000218	High palate	6218	RPS17	ORPHA:124
HP:0000218	High palate	6201	RPS7	ORPHA:124
HP:0000218	High palate	6155	RPL27	ORPHA:124
HP:0000218	High palate	6154	RPL26	ORPHA:124
HP:0000218	High palate	6210	RPS15A	ORPHA:124
HP:0000218	High palate	90121	TSR2	ORPHA:124
HP:0000218	High palate	6141	RPL18	ORPHA:124
HP:0000218	High palate	6235	RPS29	ORPHA:124
HP:0000218	High palate	6234	RPS28	ORPHA:124
HP:0000218	High palate	51816	ADA2	ORPHA:124
HP:0000218	High palate	10533	ATG7	OMIM:619422
HP:0000218	High palate	1917	EEF1A2	OMIM:616393
HP:0000218	High palate	9742	IFT140	OMIM:266920
HP:0000218	High palate	5081	PAX7	OMIM:618578
HP:0000218	High palate	389827	MYMK	OMIM:254940
HP:0000218	High palate	389827	MYMK	ORPHA:1358
HP:0000218	High palate	2201	FBN2	ORPHA:115
HP:0000218	High palate	2201	FBN2	OMIM:121050
HP:0000218	High palate	7227	TRPS1	ORPHA:77258
HP:0000218	High palate	11160	ERLIN2	ORPHA:280384
HP:0000218	High palate	11160	ERLIN2	OMIM:611225
HP:0000218	High palate	11160	ERLIN2	ORPHA:209951
HP:0000218	High palate	4921	DDR2	OMIM:271665
HP:0000218	High palate	4921	DDR2	OMIM:618175
HP:0000218	High palate	57190	SELENON	ORPHA:324604
HP:0000218	High palate	57190	SELENON	OMIM:602771
HP:0000218	High palate	57190	SELENON	ORPHA:2020
HP:0000218	High palate	7273	TTN	ORPHA:324604
HP:0000218	High palate	7273	TTN	ORPHA:169186
HP:0000218	High palate	9488	PIGB	OMIM:618580
HP:0000218	High palate	8925	HERC1	OMIM:617011
HP:0000218	High palate	8925	HERC1	ORPHA:457359
HP:0000218	High palate	1499	CTNNB1	OMIM:615075
HP:0000218	High palate	1291	COL6A1	OMIM:254090
HP:0000218	High palate	1292	COL6A2	OMIM:254090
HP:0000218	High palate	1293	COL6A3	OMIM:254090
HP:0000218	High palate	56896	DPYSL5	OMIM:619435
HP:0000218	High palate	54517	PUS7	OMIM:618342
HP:0000218	High palate	8573	CASK	OMIM:300749
HP:0000218	High palate	79912	PYROXD1	OMIM:617258
HP:0000218	High palate	10785	WDR4	OMIM:618347
HP:0000218	High palate	57122	NUP107	OMIM:618348
HP:0000218	High palate	57122	NUP107	OMIM:616730
HP:0000218	High palate	6418	SET	OMIM:618106
HP:0000218	High palate	51259	TMEM216	OMIM:608091
HP:0000218	High palate	51259	TMEM216	ORPHA:2754
HP:0000218	High palate	50814	NSDHL	ORPHA:251383
HP:0000218	High palate	50814	NSDHL	OMIM:300831
HP:0000218	High palate	128869	PIGU	OMIM:618590
HP:0000218	High palate	5515	PPP2CA	OMIM:618354
HP:0000218	High palate	91754	NEK9	OMIM:617022
HP:0000218	High palate	51114	ZDHHC9	ORPHA:776
HP:0000218	High palate	65109	UPF3B	ORPHA:776
HP:0000218	High palate	65109	UPF3B	OMIM:300676
HP:0000218	High palate	56975	FAM20C	OMIM:259775
HP:0000218	High palate	5980	REV3L	ORPHA:570
HP:0000218	High palate	23129	PLXND1	ORPHA:570
HP:0000218	High palate	4784	NFIX	OMIM:602535
HP:0000218	High palate	4784	NFIX	ORPHA:420179
HP:0000218	High palate	3039	HBA1	ORPHA:98791
HP:0000218	High palate	3040	HBA2	ORPHA:98791
HP:0000218	High palate	51434	ANAPC7	OMIM:619699
HP:0000218	High palate	1621	DBH	OMIM:223360
HP:0000218	High palate	4052	LTBP1	OMIM:619451
HP:0000218	High palate	84068	SLC10A7	OMIM:618363
HP:0000218	High palate	3756	KCNH1	OMIM:135500
HP:0000218	High palate	3756	KCNH1	ORPHA:3473
HP:0000218	High palate	3756	KCNH1	ORPHA:420561
HP:0000218	High palate	201163	FLCN	OMIM:610883
HP:0000218	High palate	7136	TNNI2	OMIM:601680
HP:0000218	High palate	7136	TNNI2	ORPHA:1147
HP:0000218	High palate	1009	CDH11	OMIM:211380
HP:0000218	High palate	1009	CDH11	OMIM:619736
HP:0000218	High palate	7703	PCGF2	OMIM:618371
HP:0000218	High palate	4556	MT-TE	ORPHA:254864
HP:0000218	High palate	55687	TRMU	ORPHA:254864
HP:0000218	High palate	633	BGN	OMIM:300989
HP:0000218	High palate	9758	FRMPD4	OMIM:300983
HP:0000218	High palate	3188	HNRNPH2	OMIM:300986
HP:0000218	High palate	4613	MYCN	OMIM:164280
HP:0000218	High palate	26040	SETBP1	ORPHA:798
HP:0000218	High palate	26040	SETBP1	OMIM:616078
HP:0000218	High palate	55975	KLHL7	OMIM:617055
HP:0000218	High palate	65250	CPLANE1	OMIM:277170
HP:0000218	High palate	65250	CPLANE1	ORPHA:2754
HP:0000218	High palate	57061	HYMAI	ORPHA:96191
HP:0000218	High palate	5325	PLAGL1	ORPHA:96191
HP:0000218	High palate	348180	CTU2	OMIM:618142
HP:0000218	High palate	80036	TRPM3	OMIM:620224
HP:0000218	High palate	3248	HPGD	OMIM:259100
HP:0000218	High palate	388015	RTL1	ORPHA:96184
HP:0000218	High palate	388015	RTL1	ORPHA:254531
HP:0000218	High palate	8788	DLK1	ORPHA:96184
HP:0000218	High palate	8788	DLK1	ORPHA:254531
HP:0000218	High palate	55384	MEG3	ORPHA:96184
HP:0000218	High palate	55384	MEG3	ORPHA:254531
HP:0000218	High palate	4000	LMNA	ORPHA:740
HP:0000218	High palate	4000	LMNA	ORPHA:90153
HP:0000218	High palate	4000	LMNA	OMIM:248370
HP:0000218	High palate	10269	ZMPSTE24	ORPHA:740
HP:0000218	High palate	10269	ZMPSTE24	OMIM:608612
HP:0000218	High palate	10682	EBP	OMIM:300960
HP:0000218	High palate	10682	EBP	ORPHA:401973
HP:0000218	High palate	10682	EBP	ORPHA:35173
HP:0000218	High palate	4927	NUP88	OMIM:618393
HP:0000218	High palate	1457	CSNK2A1	OMIM:617062
HP:0000218	High palate	7204	TRIO	OMIM:617061
HP:0000218	High palate	7204	TRIO	OMIM:618825
HP:0000218	High palate	7204	TRIO	ORPHA:476126
HP:0000218	High palate	9325	TRIP4	OMIM:617066
HP:0000218	High palate	9325	TRIP4	ORPHA:486815
HP:0000218	High palate	9325	TRIP4	OMIM:616866
HP:0000218	High palate	203068	TUBB	OMIM:156610
HP:0000218	High palate	8567	MADD	OMIM:619004
HP:0000218	High palate	8567	MADD	OMIM:619005
HP:0000218	High palate	374879	ZNF699	OMIM:619488
HP:0000218	High palate	91875	TTC5	OMIM:619244
HP:0000218	High palate	9373	PLAA	ORPHA:521426
HP:0000218	High palate	9373	PLAA	OMIM:617527
HP:0000218	High palate	8450	CUL4B	ORPHA:85293
HP:0000218	High palate	55717	WDR11	OMIM:620237
HP:0000218	High palate	126792	B3GALT6	OMIM:271640
HP:0000218	High palate	126792	B3GALT6	ORPHA:93359
HP:0000218	High palate	126792	B3GALT6	ORPHA:536467
HP:0000218	High palate	1893	ECM1	ORPHA:530
HP:0000218	High palate	23387	SIK3	OMIM:618162
HP:0000218	High palate	80267	EDEM3	OMIM:619493
HP:0000218	High palate	10084	PQBP1	OMIM:309500
HP:0000218	High palate	8242	KDM5C	ORPHA:85279
HP:0000218	High palate	8242	KDM5C	OMIM:300534
HP:0000218	High palate	284058	KANSL1	OMIM:610443
HP:0000218	High palate	1073	CFL2	OMIM:610687
HP:0000218	High palate	1073	CFL2	ORPHA:171436
HP:0000218	High palate	3643	INSR	ORPHA:769
HP:0000218	High palate	3643	INSR	OMIM:262190
HP:0000218	High palate	779	CACNA1S	OMIM:620246
HP:0000218	High palate	84081	NSRP1	OMIM:620001
HP:0000218	High palate	10079	ATP9A	OMIM:620242
HP:0000218	High palate	1513	CTSK	ORPHA:763
HP:0000218	High palate	114034	TOE1	ORPHA:284339
HP:0000218	High palate	114034	TOE1	OMIM:614969
HP:0000218	High palate	9562	MINPP1	ORPHA:284339
HP:0000218	High palate	84842	HPDL	OMIM:619026
HP:0000218	High palate	5167	ENPP1	ORPHA:758
HP:0000218	High palate	65055	REEP1	OMIM:620011
HP:0000218	High palate	8085	KMT2D	OMIM:147920
HP:0000218	High palate	8085	KMT2D	ORPHA:2322
HP:0000218	High palate	7403	KDM6A	OMIM:147920
HP:0000218	High palate	7403	KDM6A	ORPHA:2322
HP:0000218	High palate	7403	KDM6A	OMIM:300867
HP:0000218	High palate	8243	SMC1A	OMIM:300590
HP:0000218	High palate	8243	SMC1A	ORPHA:199
HP:0000218	High palate	8243	SMC1A	ORPHA:220386
HP:0000218	High palate	6309	SC5D	ORPHA:46059
HP:0000218	High palate	6309	SC5D	OMIM:607330
HP:0000218	High palate	5393	EXOSC9	OMIM:618065
HP:0000218	High palate	50484	RRM2B	ORPHA:329336
HP:0000218	High palate	246243	RNASEH1	ORPHA:329336
HP:0000218	High palate	5784	PTPN14	OMIM:613611
HP:0000218	High palate	57539	WDR35	OMIM:613610
HP:0000218	High palate	57539	WDR35	OMIM:614091
HP:0000218	High palate	781	CACNA2D1	OMIM:620149
HP:0000218	High palate	1278	COL1A2	ORPHA:230851
HP:0000218	High palate	55788	LMBRD1	OMIM:277380
HP:0000218	High palate	6662	SOX9	OMIM:114290
HP:0000218	High palate	10978	CLP1	OMIM:615803
HP:0000218	High palate	10225	CD96	OMIM:211750
HP:0000218	High palate	10225	CD96	ORPHA:1308
HP:0000218	High palate	9382	COG1	OMIM:611209
HP:0000218	High palate	9382	COG1	ORPHA:263508
HP:0000218	High palate	6197	RPS6KA3	OMIM:303600
HP:0000218	High palate	6197	RPS6KA3	ORPHA:192
HP:0000218	High palate	84992	PIGY	ORPHA:247262
HP:0000218	High palate	84992	PIGY	OMIM:616809
HP:0000218	High palate	84720	PIGO	ORPHA:247262
HP:0000218	High palate	93210	PGAP3	ORPHA:247262
HP:0000218	High palate	284098	PIGW	ORPHA:247262
HP:0000218	High palate	284098	PIGW	OMIM:616025
HP:0000218	High palate	27315	PGAP2	ORPHA:247262
HP:0000218	High palate	55650	PIGV	ORPHA:247262
HP:0000218	High palate	9487	PIGL	ORPHA:247262
HP:0000218	High palate	6261	RYR1	OMIM:255320
HP:0000218	High palate	6261	RYR1	ORPHA:98905
HP:0000218	High palate	6261	RYR1	OMIM:619542
HP:0000218	High palate	6261	RYR1	ORPHA:169186
HP:0000218	High palate	92579	G6PC3	OMIM:612541
HP:0000218	High palate	29967	LRP12	OMIM:164310
HP:0000218	High palate	672	BRCA1	ORPHA:84
HP:0000218	High palate	10459	MAD2L2	ORPHA:84
HP:0000218	High palate	7516	XRCC2	ORPHA:84
HP:0000218	High palate	29089	UBE2T	ORPHA:84
HP:0000218	High palate	675	BRCA2	ORPHA:84
HP:0000218	High palate	55120	FANCL	ORPHA:84
HP:0000218	High palate	2177	FANCD2	ORPHA:84
HP:0000218	High palate	2175	FANCA	ORPHA:84
HP:0000218	High palate	2187	FANCB	ORPHA:84
HP:0000218	High palate	2176	FANCC	ORPHA:84
HP:0000218	High palate	2178	FANCE	ORPHA:84
HP:0000218	High palate	2188	FANCF	ORPHA:84
HP:0000218	High palate	2189	FANCG	ORPHA:84
HP:0000218	High palate	5888	RAD51	ORPHA:84
HP:0000218	High palate	5889	RAD51C	ORPHA:84
HP:0000218	High palate	55159	RFWD3	ORPHA:84
HP:0000218	High palate	83990	BRIP1	ORPHA:84
HP:0000218	High palate	57697	FANCM	ORPHA:84
HP:0000218	High palate	79728	PALB2	ORPHA:84
HP:0000218	High palate	84464	SLX4	ORPHA:84
HP:0000218	High palate	2072	ERCC4	ORPHA:84
HP:0000218	High palate	55215	FANCI	ORPHA:84
HP:0000218	High palate	23116	TOGARAM1	OMIM:619185
HP:0000218	High palate	23036	ZNF292	OMIM:619188
HP:0000218	High palate	23545	ATP6V0A2	OMIM:278250
HP:0000218	High palate	23545	ATP6V0A2	OMIM:219200
HP:0000218	High palate	23545	ATP6V0A2	ORPHA:2834
HP:0000218	High palate	23545	ATP6V0A2	ORPHA:357074
HP:0000218	High palate	23314	SATB2	OMIM:612313
HP:0000218	High palate	23314	SATB2	ORPHA:576283
HP:0000218	High palate	23314	SATB2	ORPHA:251028
HP:0000218	High palate	23314	SATB2	ORPHA:251019
HP:0000218	High palate	7020	TFAP2A	ORPHA:1297
HP:0000218	High palate	526	ATP6V1B2	ORPHA:3473
HP:0000218	High palate	526	ATP6V1B2	ORPHA:79500
HP:0000218	High palate	3782	KCNN3	ORPHA:3473
HP:0000218	High palate	3782	KCNN3	OMIM:618658
HP:0000218	High palate	10522	DEAF1	OMIM:615828
HP:0000218	High palate	165	AEBP1	ORPHA:536532
HP:0000218	High palate	165	AEBP1	OMIM:618000
HP:0000218	High palate	54084	TSPEAR	OMIM:620173
HP:0000218	High palate	3192	HNRNPU	ORPHA:238769
HP:0000218	High palate	2629	GBA1	ORPHA:85212
HP:0000218	High palate	5063	PAK3	OMIM:300558
HP:0000218	High palate	79753	SNIP1	OMIM:614501
HP:0000218	High palate	3211	HOXB1	OMIM:614744
HP:0000218	High palate	10056	FARSB	OMIM:613658
HP:0000218	High palate	54499	TMCO1	OMIM:213980
HP:0000218	High palate	55719	SLF2	OMIM:620184
HP:0000218	High palate	23137	SMC5	OMIM:620185
HP:0000218	High palate	79759	ZNF668	OMIM:620194
HP:0000218	High palate	283209	PGM2L1	OMIM:620191
HP:0000218	High palate	57459	GATAD2B	ORPHA:363686
HP:0000218	High palate	8050	PDHX	OMIM:245349
HP:0000218	High palate	23261	CAMTA1	OMIM:614756
HP:0000218	High palate	8481	OFD1	OMIM:311200
HP:0000218	High palate	8481	OFD1	ORPHA:2750
HP:0000218	High palate	8481	OFD1	ORPHA:2754
HP:0000218	High palate	8481	OFD1	OMIM:300209
HP:0000218	High palate	546	ATRX	OMIM:309580
HP:0000218	High palate	80324	PUS1	ORPHA:2598
HP:0000218	High palate	80324	PUS1	OMIM:600462
HP:0000218	High palate	51067	YARS2	ORPHA:2598
HP:0000218	High palate	91252	SLC39A13	OMIM:612350
HP:0000218	High palate	22907	DHX30	OMIM:617804
HP:0000218	High palate	57724	EPG5	ORPHA:1493
HP:0000218	High palate	57724	EPG5	OMIM:242840
HP:0000218	High palate	6664	SOX11	OMIM:615866
HP:0000218	High palate	10075	HUWE1	OMIM:309590
HP:0000218	High palate	1305	COL13A1	OMIM:616720
HP:0000218	High palate	1305	COL13A1	ORPHA:98914
HP:0000218	High palate	1305	COL13A1	ORPHA:98913
HP:0000218	High palate	11133	KPTN	OMIM:615637
HP:0000218	High palate	11133	KPTN	ORPHA:397612
HP:0000218	High palate	4747	NEFL	OMIM:607684
HP:0000218	High palate	6473	SHOX	OMIM:127300
HP:0000218	High palate	6473	SHOX	ORPHA:314795
HP:0000218	High palate	6473	SHOX	ORPHA:2632
HP:0000218	High palate	84162	BLTP1	OMIM:617822
HP:0000218	High palate	473	RERE	OMIM:616975
HP:0000218	High palate	2782	GNB1	OMIM:616973
HP:0000218	High palate	2782	GNB1	ORPHA:488613
HP:0000218	High palate	3097	HIVEP2	OMIM:616977
HP:0000218	High palate	10651	MTX2	ORPHA:90153
HP:0000218	High palate	10651	MTX2	OMIM:619127
HP:0000218	High palate	23097	CDK19	OMIM:618916
HP:0000218	High palate	4131	MAP1B	OMIM:618918
HP:0000218	High palate	2316	FLNA	OMIM:305620
HP:0000218	High palate	55906	ZC4H2	OMIM:314580
HP:0000218	High palate	2138	EYA1	ORPHA:2792
HP:0000218	High palate	2138	EYA1	OMIM:113650
HP:0000218	High palate	2138	EYA1	OMIM:166780
HP:0000218	High palate	5075	PAX1	ORPHA:2792
HP:0000218	High palate	3759	KCNJ2	OMIM:170390
HP:0000218	High palate	3759	KCNJ2	ORPHA:37553
HP:0000218	High palate	1000	CDH2	OMIM:618929
HP:0000218	High palate	25	ABL1	OMIM:617602
HP:0000218	High palate	545	ATR	OMIM:210600
HP:0000218	High palate	6638	SNRPN	ORPHA:177907
HP:0000218	High palate	760	CA2	ORPHA:2785
HP:0000218	High palate	23476	BRD4	ORPHA:199
HP:0000218	High palate	9126	SMC3	ORPHA:199
HP:0000218	High palate	9126	SMC3	OMIM:610759
HP:0000218	High palate	55869	HDAC8	ORPHA:199
HP:0000218	High palate	55869	HDAC8	OMIM:300882
HP:0000218	High palate	5885	RAD21	ORPHA:199
HP:0000218	High palate	9997	SCO2	OMIM:604377
HP:0000218	High palate	8270	LAGE3	OMIM:301006
HP:0000218	High palate	1213	CLTC	OMIM:617854
HP:0000218	High palate	117581	TWIST2	OMIM:209885
HP:0000218	High palate	4329	ALDH6A1	OMIM:614105
HP:0000218	High palate	23556	PIGN	ORPHA:280633
HP:0000218	High palate	23556	PIGN	OMIM:614080
HP:0000218	High palate	23556	PIGN	ORPHA:2059
HP:0000218	High palate	55617	TASP1	OMIM:618950
HP:0000218	High palate	6182	MRPL12	OMIM:618951
HP:0000218	High palate	1806	DPYD	ORPHA:1675
HP:0000218	High palate	60482	SLC5A7	ORPHA:98914
HP:0000218	High palate	4649	MYO9A	ORPHA:98914
HP:0000218	High palate	1103	CHAT	ORPHA:98914
HP:0000218	High palate	6576	SLC25A1	ORPHA:98914
HP:0000218	High palate	6843	VAMP1	ORPHA:98914
HP:0000218	High palate	375790	AGRN	ORPHA:98914
HP:0000218	High palate	375790	AGRN	ORPHA:98913
HP:0000218	High palate	375790	AGRN	OMIM:615120
HP:0000218	High palate	127833	SYT2	ORPHA:98914
HP:0000218	High palate	6572	SLC18A3	ORPHA:98914
HP:0000218	High palate	6616	SNAP25	ORPHA:98914
HP:0000218	High palate	8292	COLQ	ORPHA:98915
HP:0000218	High palate	3913	LAMB2	ORPHA:98915
HP:0000218	High palate	1140	CHRNB1	ORPHA:98913
HP:0000218	High palate	1140	CHRNB1	OMIM:616313
HP:0000218	High palate	221264	AK9	ORPHA:98913
HP:0000218	High palate	285489	DOK7	ORPHA:98913
HP:0000218	High palate	652	BMP4	ORPHA:139471
HP:0000218	High palate	652	BMP4	OMIM:607932
HP:0000218	High palate	26503	SLC17A5	OMIM:269920
HP:0000218	High palate	650	BMP2	OMIM:617877
HP:0000218	High palate	84700	MYO18B	OMIM:616549
HP:0000218	High palate	4621	MYH3	ORPHA:2990
HP:0000218	High palate	4621	MYH3	OMIM:193700
HP:0000218	High palate	4621	MYH3	ORPHA:1147
HP:0000218	High palate	1146	CHRNG	ORPHA:2990
HP:0000218	High palate	1146	CHRNG	OMIM:265000
HP:0000218	High palate	4750	NEK1	ORPHA:2751
HP:0000218	High palate	22930	RAB3GAP1	ORPHA:2510
HP:0000218	High palate	22930	RAB3GAP1	ORPHA:1387
HP:0000218	High palate	25782	RAB3GAP2	ORPHA:2510
HP:0000218	High palate	25782	RAB3GAP2	OMIM:212720
HP:0000218	High palate	25782	RAB3GAP2	ORPHA:1387
HP:0000218	High palate	22931	RAB18	ORPHA:2510
HP:0000218	High palate	128637	TBC1D20	ORPHA:2510
HP:0000218	High palate	10210	TOPORS	ORPHA:2754
HP:0000218	High palate	9851	KIAA0753	ORPHA:2754
HP:0000218	High palate	5147	PDE6D	ORPHA:2754
HP:0000218	High palate	317662	FAM149B1	ORPHA:2754
HP:0000218	High palate	374654	KIF7	ORPHA:2754
HP:0000218	High palate	374654	KIF7	OMIM:200990
HP:0000218	High palate	55553	SOX6	OMIM:618971
HP:0000218	High palate	79875	THSD4	OMIM:619825
HP:0000218	High palate	4281	MID1	ORPHA:2745
HP:0000218	High palate	4281	MID1	OMIM:300000
HP:0000218	High palate	529	ATP6V1E1	OMIM:617402
HP:0000218	High palate	529	ATP6V1E1	ORPHA:357074
HP:0000218	High palate	4654	MYOD1	OMIM:618975
HP:0000218	High palate	246329	STAC3	OMIM:255995
HP:0000218	High palate	246329	STAC3	ORPHA:168572
HP:0000218	High palate	3762	KCNJ5	ORPHA:37553
HP:0000218	High palate	7528	YY1	ORPHA:506358
HP:0000218	High palate	7528	YY1	OMIM:617557
HP:0000218	High palate	8036	SHOC2	OMIM:607721
HP:0000218	High palate	104	ADARB1	OMIM:618862
HP:0000218	High palate	6495	SIX1	OMIM:113650
HP:0000218	High palate	9853	RUSC2	OMIM:617773
HP:0000218	High palate	1947	EFNB1	ORPHA:1520
HP:0000218	High palate	84942	WDR73	OMIM:251300
HP:0000218	High palate	55870	ASH1L	OMIM:617796
HP:0000218	High palate	9469	CHST3	OMIM:143095
HP:0000218	High palate	4853	NOTCH2	OMIM:102500
HP:0000218	High palate	10381	TUBB3	ORPHA:300570
HP:0000218	High palate	23184	MESD	OMIM:618644
HP:0000218	High palate	85365	ALG2	OMIM:616228
HP:0000218	High palate	85365	ALG2	OMIM:607906
HP:0000218	High palate	85365	ALG2	ORPHA:353327
HP:0000218	High palate	2626	GATA4	ORPHA:251071
HP:0000218	High palate	22872	SEC31A	OMIM:618651
HP:0000218	High palate	4763	NF1	ORPHA:363700
HP:0000218	High palate	1656	DDX6	OMIM:618653
HP:0000218	High palate	1501	CTNND2	ORPHA:281
HP:0000218	High palate	9037	SEMA5A	ORPHA:281
HP:0000218	High palate	88	ACTN2	OMIM:618654
HP:0000218	High palate	5442	POLRMT	OMIM:619743
HP:0000218	High palate	4297	KMT2A	ORPHA:319182
HP:0000218	High palate	4297	KMT2A	OMIM:605130
HP:0000218	High palate	2783	GNB2	OMIM:619503
HP:0000218	High palate	4632	MYL1	OMIM:618414
HP:0000218	High palate	8642	DCHS1	OMIM:601390
HP:0000218	High palate	4053	LTBP2	OMIM:251750
HP:0000218	High palate	3476	IGBP1	ORPHA:52055
HP:0000218	High palate	3476	IGBP1	OMIM:300472
HP:0000218	High palate	8241	RBM10	OMIM:311900
HP:0000218	High palate	3981	LIG4	ORPHA:235
HP:0000218	High palate	54888	NSUN2	ORPHA:235
HP:0000218	High palate	23312	DMXL2	OMIM:618663
HP:0000218	High palate	3572	IL6ST	OMIM:619752
HP:0000218	High palate	3572	IL6ST	OMIM:619750
HP:0000218	High palate	1182	CLCN3	OMIM:619512
HP:0000218	High palate	10717	AP4B1	OMIM:614066
HP:0000218	High palate	10717	AP4B1	ORPHA:280763
HP:0000218	High palate	11154	AP4S1	OMIM:614067
HP:0000218	High palate	11154	AP4S1	ORPHA:280763
HP:0000218	High palate	5048	PAFAH1B1	ORPHA:217385
HP:0000218	High palate	7531	YWHAE	ORPHA:217385
HP:0000218	High palate	84665	MYPN	OMIM:617336
HP:0000218	High palate	84665	MYPN	ORPHA:171881
HP:0000218	High palate	84665	MYPN	ORPHA:171439
HP:0000218	High palate	9841	ZBTB24	OMIM:614069
HP:0000218	High palate	286	ANK1	ORPHA:251066
HP:0000218	High palate	145258	GSC	OMIM:602471
HP:0000218	High palate	26137	ZBTB20	OMIM:259050
HP:0000218	High palate	8314	BAP1	OMIM:619762
HP:0000218	High palate	7750	ZMYM2	OMIM:619522
HP:0000218	High palate	57492	ARID1B	ORPHA:251056
HP:0000218	High palate	57492	ARID1B	OMIM:135900
HP:0000218	High palate	7841	MOGS	ORPHA:79330
HP:0000218	High palate	7841	MOGS	OMIM:606056
HP:0000218	High palate	2556	GABRA3	OMIM:301091
HP:0000218	High palate	2271	FH	OMIM:606812
HP:0000218	High palate	5373	PMM2	ORPHA:79318
HP:0000218	High palate	23162	MAPK8IP3	OMIM:618443
HP:0000218	High palate	4123	MAN2C1	OMIM:619775
HP:0000218	High palate	23219	FBXO28	OMIM:619777
HP:0000218	High palate	1107	CHD3	OMIM:618205
HP:0000218	High palate	9496	TBX4	OMIM:147891
HP:0000218	High palate	10195	ALG3	ORPHA:79321
HP:0000218	High palate	10195	ALG3	OMIM:601110
HP:0000218	High palate	3730	ANOS1	OMIM:308700
HP:0000218	High palate	3897	L1CAM	OMIM:304100
HP:0000218	High palate	3763	KCNJ6	OMIM:614098
HP:0000218	High palate	3763	KCNJ6	ORPHA:435628
HP:0000218	High palate	29968	PSAT1	OMIM:616038
HP:0000218	High palate	6878	TAF6	OMIM:617126
HP:0000218	High palate	164	AP1G1	OMIM:619548
HP:0000218	High palate	6929	TCF3	ORPHA:33110
HP:0000218	High palate	973	CD79A	ORPHA:33110
HP:0000218	High palate	974	CD79B	ORPHA:33110
HP:0000218	High palate	3543	IGLL1	ORPHA:33110
HP:0000218	High palate	3507	IGHM	ORPHA:33110
HP:0000218	High palate	29760	BLNK	ORPHA:33110
HP:0000218	High palate	5295	PIK3R1	ORPHA:33110
HP:0000218	High palate	56262	LRRC8A	ORPHA:33110
HP:0000218	High palate	56262	LRRC8A	OMIM:613506
HP:0000218	High palate	353116	RILPL1	OMIM:619790
HP:0000218	High palate	84706	GPT2	OMIM:616281
HP:0000218	High palate	10466	COG5	ORPHA:263487
HP:0000218	High palate	6477	SIAH1	OMIM:619314
HP:0000218	High palate	23363	OBSL1	OMIM:612921
HP:0000218	High palate	9871	SEC24D	OMIM:616294
HP:0000218	High palate	29998	BICRA	OMIM:619325
HP:0000218	High palate	6651	SON	OMIM:617140
HP:0000218	High palate	1289	COL5A1	OMIM:619329
HP:0000218	High palate	9179	AP4M1	OMIM:612936
HP:0000218	High palate	9179	AP4M1	ORPHA:280763
HP:0000218	High palate	1725	DHPS	OMIM:618480
HP:0000218	High palate	1741	DLG3	OMIM:300850
HP:0000218	High palate	2530	FUT8	OMIM:618005
HP:0000218	High palate	54496	PRMT7	OMIM:617157
HP:0000218	High palate	7169	TPM2	OMIM:609285
HP:0000218	High palate	7169	TPM2	ORPHA:171436
HP:0000218	High palate	7169	TPM2	ORPHA:171881
HP:0000218	High palate	7169	TPM2	ORPHA:2020
HP:0000218	High palate	7169	TPM2	ORPHA:1147
HP:0000218	High palate	7169	TPM2	ORPHA:171439
HP:0000218	High palate	5831	PYCR1	OMIM:612940
HP:0000218	High palate	29920	PYCR2	ORPHA:481152
HP:0000218	High palate	23389	MED13L	ORPHA:369891
HP:0000218	High palate	444	ASPH	OMIM:601552
HP:0000218	High palate	10483	SEC23B	ORPHA:201
HP:0000218	High palate	6390	SDHB	ORPHA:201
HP:0000218	High palate	6392	SDHD	ORPHA:201
HP:0000218	High palate	6391	SDHC	ORPHA:201
HP:0000218	High palate	207	AKT1	ORPHA:201
HP:0000218	High palate	207	AKT1	OMIM:615109
HP:0000218	High palate	205717	USF3	ORPHA:201
HP:0000218	High palate	5290	PIK3CA	ORPHA:201
HP:0000218	High palate	5290	PIK3CA	OMIM:615108
HP:0000218	High palate	100144748	KLLN	ORPHA:201
HP:0000218	High palate	372	ARCN1	OMIM:617164
HP:0000218	High palate	9451	EIF2AK3	OMIM:226980
HP:0000218	High palate	5277	PIGA	OMIM:300868
HP:0000218	High palate	5283	PIGH	OMIM:618010
HP:0000218	High palate	84896	ATAD1	OMIM:618011
HP:0000218	High palate	57187	THOC2	ORPHA:457240
HP:0000218	High palate	9244	CRLF1	OMIM:272430
HP:0000218	High palate	9244	CRLF1	ORPHA:1545
HP:0000218	High palate	668	FOXL2	OMIM:110100
HP:0000218	High palate	57003	CCDC47	OMIM:618268
HP:0000218	High palate	29895	MYL11	OMIM:619110
HP:0000218	High palate	79005	SCNM1	OMIM:620107
HP:0000218	High palate	57465	TBC1D24	ORPHA:79500
HP:0000218	High palate	57465	TBC1D24	OMIM:220500
HP:0000218	High palate	84172	POLR1B	ORPHA:861
HP:0000218	High palate	9533	POLR1C	ORPHA:861
HP:0000218	High palate	51082	POLR1D	ORPHA:861
HP:0000218	High palate	6949	TCOF1	ORPHA:861
HP:0000218	High palate	285590	SH3PXD2B	OMIM:249420
HP:0000218	High palate	51715	RAB23	OMIM:201000
HP:0000218	High palate	29123	ANKRD11	ORPHA:261250
HP:0000218	High palate	64093	SMOC1	OMIM:206920
HP:0000218	High palate	64093	SMOC1	ORPHA:1106
HP:0000218	High palate	23529	CLCF1	OMIM:610313
HP:0000218	High palate	23529	CLCF1	ORPHA:1545
HP:0000218	High palate	118924	FRA10AC1	OMIM:620113
HP:0000218	High palate	22995	CEP152	OMIM:613823
HP:0000218	High palate	84905	ZNF341	OMIM:618282
HP:0000218	High palate	23154	NCDN	OMIM:619373
HP:0000218	High palate	5528	PPP2R5D	ORPHA:457279
HP:0000218	High palate	2733	GLE1	OMIM:611890
HP:0000218	High palate	3295	HSD17B4	OMIM:261515
HP:0000218	High palate	3295	HSD17B4	OMIM:233400
HP:0000218	High palate	22800	RRAS2	ORPHA:648
HP:0000218	High palate	867	CBL	ORPHA:648
HP:0000218	High palate	6016	RIT1	ORPHA:648
HP:0000218	High palate	6237	RRAS	ORPHA:648
HP:0000218	High palate	5894	RAF1	ORPHA:648
HP:0000218	High palate	22808	MRAS	ORPHA:648
HP:0000218	High palate	4893	NRAS	ORPHA:648
HP:0000218	High palate	6654	SOS1	ORPHA:648
HP:0000218	High palate	6655	SOS2	ORPHA:648
HP:0000218	High palate	5922	RASA2	ORPHA:648
HP:0000218	High palate	1795	DOCK3	OMIM:618292
HP:0000218	High palate	11011	TLK2	OMIM:618050
HP:0000218	High palate	129285	PPP1R21	OMIM:619383
HP:0000218	High palate	221927	BRAT1	OMIM:618056
HP:0000218	High palate	3480	IGF1R	OMIM:270450
HP:0000218	High palate	121340	SP7	OMIM:613849
HP:0000218	High palate	4702	NDUFA8	OMIM:619272
HP:0000218	High palate	9131	AIFM1	OMIM:300232
HP:0000218	High palate	341640	FREM2	ORPHA:2052
HP:0000218	High palate	80144	FRAS1	ORPHA:2052
HP:0000218	High palate	23426	GRIP1	ORPHA:2052
HP:0000218	High palate	10046	MAMLD1	ORPHA:456328
HP:0000218	High palate	4574	MT-TS1	OMIM:220110
HP:0000218	High palate	4570	MT-TN	OMIM:220110
HP:0000218	High palate	6834	SURF1	OMIM:220110
HP:0000218	High palate	8506	CNTNAP1	OMIM:618186
HP:0000218	High palate	10274	STAG1	ORPHA:502434
HP:0000218	High palate	1119	CHKA	OMIM:620023
HP:0000218	High palate	118987	PDZD8	OMIM:620021
HP:0000218	High palate	23118	TAB2	ORPHA:228410
HP:0000218	High palate	8443	GNPAT	OMIM:222765
HP:0000218	High palate	56203	LMOD3	ORPHA:171436
HP:0000218	High palate	170302	ARX	OMIM:300004
HP:0000218	High palate	170302	ARX	OMIM:300215
HP:0000218	High palate	29925	GMPPB	ORPHA:353327
HP:0000218	High palate	1798	DPAGT1	ORPHA:353327
HP:0000218	High palate	199857	ALG14	ORPHA:353327
HP:0000218	High palate	84987	COX14	OMIM:619053
HP:0000218	High palate	274	BIN1	OMIM:255200
HP:0000218	High palate	274	BIN1	ORPHA:169186
HP:0000218	High palate	8289	ARID1A	OMIM:614607
HP:0000218	High palate	55107	ANO1	OMIM:620045
HP:0000218	High palate	6598	SMARCB1	OMIM:614608
HP:0000218	High palate	1339	COX6A2	OMIM:619062
HP:0000218	High palate	4633	MYL2	ORPHA:2020
HP:0000218	High palate	3679	ITGA7	ORPHA:2020
HP:0000218	High palate	9200	HACD1	ORPHA:2020
HP:0000218	High palate	51776	MAP3K20	ORPHA:2020
HP:0000218	High palate	10352	WARS2	ORPHA:572798
HP:0000218	High palate	3265	HRAS	OMIM:218040
HP:0000218	High palate	2697	GJA1	OMIM:164200
HP:0000218	High palate	23265	EXOC7	OMIM:619072
HP:0000218	High palate	4953	ODC1	OMIM:619075
HP:0000218	High palate	8905	AP1S2	ORPHA:85335
HP:0000218	High palate	8239	USP9X	ORPHA:480880
HP:0000218	High palate	5828	PEX2	OMIM:614866
HP:0000218	High palate	5828	PEX2	ORPHA:912
HP:0000218	High palate	10290	SPEG	OMIM:615959
HP:0000218	High palate	10290	SPEG	ORPHA:169186
HP:0000218	High palate	157570	ESCO2	ORPHA:3103
HP:0000218	High palate	157570	ESCO2	OMIM:268300
HP:0000218	High palate	51611	DPH5	OMIM:620070
HP:0000218	High palate	78989	COLEC11	OMIM:265050
HP:0000218	High palate	6774	STAT3	OMIM:147060
HP:0000218	High palate	55670	PEX26	OMIM:614872
HP:0000218	High palate	55670	PEX26	ORPHA:912
HP:0000218	High palate	7025	NR2F1	OMIM:615722
HP:0000218	High palate	3187	HNRNPH1	OMIM:620083
HP:0000218	High palate	7355	SLC35A2	OMIM:300896
HP:0000218	High palate	81031	SLC2A10	OMIM:208050
HP:0000218	High palate	7140	TNNT3	ORPHA:1147
HP:0000218	High palate	259232	NALCN	ORPHA:1147
HP:0000218	High palate	8504	PEX3	OMIM:614882
HP:0000218	High palate	8504	PEX3	ORPHA:912
HP:0000218	High palate	7317	UBA1	ORPHA:1145
HP:0000218	High palate	390594	KBTBD13	ORPHA:171439
HP:0000218	High palate	50628	GEMIN4	OMIM:617913
HP:0000218	High palate	8195	MKKS	ORPHA:2473
HP:0000218	High palate	3954	LETM1	OMIM:620089
HP:0000218	High palate	1487	CTBP1	OMIM:617915
HP:0000218	High palate	5631	PRPS1	OMIM:300661
HP:0000218	High palate	9775	EIF4A3	OMIM:268305
HP:0000218	High palate	667	DST	OMIM:614653
HP:0000218	High palate	2702	GJA5	OMIM:612474
HP:0000218	High palate	2703	GJA8	OMIM:612474
HP:0000218	High palate	5824	PEX19	ORPHA:912
HP:0000218	High palate	8799	PEX11B	ORPHA:912
HP:0000218	High palate	9409	PEX16	ORPHA:912
HP:0000218	High palate	5190	PEX6	ORPHA:912
HP:0000218	High palate	5193	PEX12	ORPHA:912
HP:0000218	High palate	5194	PEX13	ORPHA:912
HP:0000218	High palate	5195	PEX14	ORPHA:912
HP:0000218	High palate	5192	PEX10	ORPHA:912
HP:0000218	High palate	9698	PUM1	OMIM:617931
HP:0000218	High palate	2335	FN1	ORPHA:93315
HP:0000218	High palate	1280	COL2A1	ORPHA:93315
HP:0000218	High palate	53616	ADAM22	OMIM:617933
HP:0000218	High palate	85358	SHANK3	OMIM:606232
HP:0000218	High palate	5859	QARS1	OMIM:615760
HP:0000218	High palate	113179	ADAT3	ORPHA:363528
HP:0000218	High palate	3313	HSPA9	OMIM:616854
HP:0000218	High palate	10525	HYOU1	OMIM:233600
HP:0000218	High palate	1836	SLC26A2	ORPHA:93307
HP:0000218	High palate	10157	AASS	ORPHA:2203
HP:0000218	High palate	79631	EFL1	OMIM:617941
HP:0000218	High palate	30008	EFEMP2	OMIM:614437
HP:0000218	High palate	5053	PAH	ORPHA:2209
HP:0000218	High palate	26224	FBXL3	OMIM:606220
HP:0000218	High palate	4204	MECP2	OMIM:300055
HP:0000218	High palate	4204	MECP2	OMIM:300260
HP:0000218	High palate	8831	SYNGAP1	ORPHA:544254
HP:0000218	High palate	10265	IRX5	OMIM:611174
HP:0000218	High palate	23511	NUP188	OMIM:618804
HP:0000218	High palate	5605	MAP2K2	ORPHA:1340
HP:0000218	High palate	79633	FAT4	OMIM:615546
HP:0000218	High palate	55644	OSGEP	OMIM:617729
HP:0000218	High palate	6628	SNRPB	OMIM:117650
HP:0000218	High palate	23233	EXOC6B	ORPHA:93359
HP:0000218	High palate	8405	SPOP	OMIM:618829
HP:0000218	High palate	51124	IER3IP1	OMIM:614231
HP:0000218	High palate	54870	QRICH1	OMIM:617982
HP:0000218	High palate	5500	PPP1CB	OMIM:617506
HP:0000218	High palate	7291	TWIST1	OMIM:617746
HP:0000218	High palate	100506658	OCLN	OMIM:251290
HP:0000218	High palate	23431	AP4E1	ORPHA:280763
HP:0000218	High palate	9320	TRIP12	OMIM:617752
HP:0000218	High palate	523	ATP6V1A	ORPHA:357074
HP:0000218	High palate	55023	PHIP	OMIM:617991
HP:0000218	High palate	200205	IBA57	OMIM:615330
HP:0000218	High palate	1663	DDX11	OMIM:613398
HP:0000218	High palate	738	VPS51	OMIM:618606
HP:0000218	High palate	9757	KMT2B	OMIM:619934
HP:0000218	High palate	5430	POLR2A	OMIM:618603
HP:0000218	High palate	57731	SPTBN4	OMIM:617519
HP:0000218	High palate	9181	ARHGEF2	OMIM:617523
HP:0000218	High palate	6736	SRY	ORPHA:1772
HP:0000218	High palate	55753	OGDHL	OMIM:619701
HP:0000218	High palate	9990	SLC12A6	OMIM:218000
HP:0000218	High palate	5979	RET	OMIM:162300
HP:0000218	High palate	23013	SPEN	OMIM:619312
HP:0000218	High palate	8367	H4C5	OMIM:619950
HP:0000218	High palate	161742	SPRED1	OMIM:611431
HP:0000218	High palate	23394	ADNP	OMIM:615873
HP:0000218	High palate	2261	FGFR3	ORPHA:53271
HP:0000218	High palate	2200	FBN1	ORPHA:284979
HP:0000218	High palate	2200	FBN1	OMIM:616914
HP:0000218	High palate	2200	FBN1	ORPHA:2462
HP:0000218	High palate	2200	FBN1	ORPHA:91387
HP:0000218	High palate	5447	POR	ORPHA:95699
HP:0000218	High palate	3190	HNRNPK	ORPHA:453504
HP:0000218	High palate	3190	HNRNPK	ORPHA:352665
HP:0000218	High palate	1301	COL11A1	OMIM:604841
HP:0000218	High palate	116931	MED12L	OMIM:618872
HP:0000218	High palate	91179	SCARF2	OMIM:600920
HP:0000218	High palate	58	ACTA1	ORPHA:171433
HP:0000218	High palate	4703	NEB	ORPHA:171433
HP:0000218	High palate	10324	KLHL41	ORPHA:171433
HP:0000218	High palate	7170	TPM3	ORPHA:171433
HP:0000218	High palate	613	BCR	ORPHA:261330
HP:0000218	High palate	1399	CRKL	ORPHA:261330
HP:0000218	High palate	5594	MAPK1	ORPHA:261330
HP:0000218	High palate	57520	HECW2	OMIM:617268
HP:0000218	High palate	51506	UFC1	OMIM:618076
HP:0000218	High palate	5830	PEX5	OMIM:202370
HP:0000218	High palate	129563	DIS3L2	ORPHA:2849
HP:0000218	High palate	137682	NDUFAF6	OMIM:618239
HP:0000218	High palate	55780	ERMARD	ORPHA:75857
HP:0000218	High palate	26153	KIF26A	OMIM:620156
HP:0000218	High palate	5189	PEX1	OMIM:214100
HP:0000218	High palate	4038	LRP4	ORPHA:3258
HP:0000218	High palate	324	APC	ORPHA:3258
HP:0000218	High palate	57551	TAOK1	OMIM:619575
HP:0000218	High palate	8888	MCM3AP	OMIM:618124
HP:0000218	High palate	64324	NSD1	OMIM:117550
HP:0000218	High palate	4141	MARS1	OMIM:619692
HP:0000218	High palate	1272	CNTN1	OMIM:612540
HP:0000218	High palate	81857	MED25	ORPHA:464738
HP:0000218	High palate	93986	FOXP2	ORPHA:209908
HP:0000218	High palate	2260	FGFR1	OMIM:190440
HP:0000218	High palate	84100	ARL6	OMIM:209900
HP:0000218	High palate	79140	CCDC28B	OMIM:209900
HP:0000218	High palate	582	BBS1	OMIM:209900
HP:0000218	High palate	5351	PLOD1	ORPHA:1900
HP:0000218	High palate	81620	CDT1	ORPHA:2554
HP:0000218	High palate	5000	ORC4	ORPHA:2554
HP:0000218	High palate	23594	ORC6	ORPHA:2554
HP:0000218	High palate	8318	CDC45	ORPHA:2554
HP:0000218	High palate	990	CDC6	ORPHA:2554
HP:0000218	High palate	4998	ORC1	ORPHA:2554
HP:0000218	High palate	51053	GMNN	ORPHA:2554
HP:0000218	High palate	55764	IFT122	OMIM:218330
HP:0000218	High palate	157680	VPS13B	OMIM:216550
HP:0000218	High palate	157680	VPS13B	ORPHA:193
HP:0000218	High palate	8604	SLC25A12	OMIM:612949
HP:0000218	High palate	6899	TBX1	OMIM:188400
HP:0000218	High palate	1281	COL3A1	ORPHA:286
HP:0000218	High palate	9896	FIG4	ORPHA:3472
HP:0000218	High palate	55697	VAC14	ORPHA:3472
HP:0000218	High palate	860	RUNX2	OMIM:119600
HP:0000218	High palate	860	RUNX2	ORPHA:1452
HP:0000218	High palate	1822	ATN1	OMIM:618494
HP:0000218	High palate	51305	KCNK9	ORPHA:166108
HP:0000218	High palate	4854	NOTCH3	ORPHA:2789
HP:0000218	High palate	93627	TBCK	ORPHA:488632
HP:0000218	High palate	1954	MEGF8	OMIM:614976
HP:0000218	High palate	200734	SPRED2	OMIM:619745
HP:0000218	High palate	89910	UBE3B	ORPHA:2707
HP:0000218	High palate	5728	PTEN	ORPHA:79076
HP:0000218	High palate	657	BMPR1A	ORPHA:79076
HP:0000218	High palate	25942	SIN3A	OMIM:613406
HP:0000218	High palate	139285	AMER1	ORPHA:2780
HP:0000218	High palate	9401	RECQL4	OMIM:266280
HP:0000218	High palate	10755	GIPC1	ORPHA:98897
HP:0000218	High palate	100996717	NOTCH2NLC	ORPHA:98897
HP:0000218	High palate	6885	MAP3K7	ORPHA:3238
HP:0000218	High palate	538	ATP7A	ORPHA:198
HP:0000218	High palate	8260	NAA10	OMIM:309800
HP:0000218	High palate	8260	NAA10	ORPHA:276432
HP:0000218	High palate	54880	BCOR	OMIM:309800
HP:0000218	High palate	4593	MUSK	OMIM:208150
HP:0000218	High palate	388662	SLC6A17	ORPHA:457212
HP:0000218	High palate	10526	IPO8	OMIM:619472
HP:0000218	High palate	8558	CDK10	OMIM:617694
HP:0000218	High palate	51604	PIGT	ORPHA:369837
HP:0000218	High palate	6711	SPTBN1	OMIM:619475
HP:0000218	High palate	56006	SMG9	OMIM:616920
HP:0000218	High palate	1387	CREBBP	OMIM:180849
HP:0000218	High palate	2033	EP300	OMIM:180849
HP:0000218	High palate	1857	DVL3	ORPHA:3107
HP:0000218	High palate	7474	WNT5A	ORPHA:3107
HP:0000218	High palate	1855	DVL1	ORPHA:3107
HP:0000218	High palate	2535	FZD2	ORPHA:3107
HP:0000218	High palate	27125	AFF4	OMIM:616368
HP:0000218	High palate	9791	PTDSS1	ORPHA:2658
HP:0000218	High palate	29957	SLC25A24	OMIM:612289
HP:0000218	High palate	1303	COL12A1	ORPHA:536516
HP:0000218	High palate	2887	GRB10	ORPHA:96182
HP:0000218	High palate	6595	SMARCA2	ORPHA:3051
HP:0000218	High palate	6595	SMARCA2	OMIM:601358
HP:0000218	High palate	6872	TAF1	OMIM:300966
HP:0000218	High palate	368	ABCC6	OMIM:177850
HP:0000218	High palate	83479	DDX59	ORPHA:2919
HP:0000218	High palate	4841	NONO	OMIM:300967
HP:0000218	High palate	4841	NONO	ORPHA:466791
HP:0000218	High palate	56098	PCDHGC4	OMIM:619880
HP:0000218	High palate	63895	PIEZO2	OMIM:248700
HP:0000218	High palate	8813	DPM1	OMIM:608799
HP:0000218	High palate	8813	DPM1	ORPHA:79322
HP:0000218	High palate	2239	GPC4	ORPHA:373
HP:0000218	High palate	2719	GPC3	ORPHA:373
HP:0000218	High palate	1315	COPB1	OMIM:619255
HP:0000218	High palate	84168	ANTXR1	OMIM:230740
HP:0000218	High palate	7476	WNT7A	ORPHA:2879
HP:0000218	High palate	6611	SMS	OMIM:309583
HP:0000218	High palate	25836	NIPBL	OMIM:122470
HP:0000218	High palate	10020	GNE	ORPHA:3166
HP:0000218	High palate	404672	GTF2H5	ORPHA:33364
HP:0000218	High palate	833	CARS1	ORPHA:33364
HP:0000218	High palate	2068	ERCC2	ORPHA:33364
HP:0000218	High palate	7737	RNF113A	ORPHA:33364
HP:0000218	High palate	136647	MPLKIP	ORPHA:33364
HP:0000218	High palate	6897	TARS1	ORPHA:33364
HP:0000218	High palate	2071	ERCC3	ORPHA:33364
HP:0000218	High palate	2961	GTF2E2	ORPHA:33364
HP:0000218	High palate	1376	CPT2	ORPHA:228308
HP:0000218	High palate	26123	TCTN3	ORPHA:2753
HP:0000218	High palate	9897	WASHC5	ORPHA:7
HP:0000218	High palate	28952	CCDC22	ORPHA:7
HP:0000218	High palate	101929726	MYMX	OMIM:619941
HP:0000218	High palate	6497	SKI	ORPHA:2462
HP:0000218	High palate	196528	ARID2	OMIM:617808
HP:0000218	High palate	27445	PCLO	OMIM:608027
HP:0000218	High palate	7042	TGFB2	OMIM:614816
HP:0000218	High palate	7042	TGFB2	ORPHA:91387
HP:0000218	High palate	27152	INTU	OMIM:617926
HP:0000218	High palate	4629	MYH11	ORPHA:91387
HP:0000218	High palate	7046	TGFBR1	ORPHA:91387
HP:0000218	High palate	7048	TGFBR2	ORPHA:91387
HP:0000218	High palate	4015	LOX	ORPHA:91387
HP:0000218	High palate	4087	SMAD2	ORPHA:91387
HP:0000218	High palate	7043	TGFB3	ORPHA:91387
HP:0000218	High palate	4088	SMAD3	ORPHA:91387
HP:0000218	High palate	4089	SMAD4	ORPHA:91387
HP:0000218	High palate	59	ACTA2	ORPHA:91387
HP:0000218	High palate	5592	PRKG1	ORPHA:91387
HP:0000218	High palate	2301	FOXE3	ORPHA:91387
HP:0000218	High palate	4144	MAT2A	ORPHA:91387
HP:0000218	High palate	23493	HEY2	ORPHA:91387
HP:0000218	High palate	8076	MFAP5	ORPHA:91387
HP:0000218	High palate	4638	MYLK	ORPHA:91387
HP:0000218	High palate	2006	ELN	ORPHA:91387
HP:0000218	High palate	80816	ASXL3	ORPHA:352577
HP:0000218	High palate	5604	MAP2K1	OMIM:163950
HP:0000218	High palate	5781	PTPN11	OMIM:163950
HP:0000218	High palate	673	BRAF	OMIM:163950
HP:0009084	Midline notch of upper alveolar ridge	9851	KIAA0753	OMIM:617127
HP:0009084	Midline notch of upper alveolar ridge	9851	KIAA0753	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	10210	TOPORS	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	26123	TCTN3	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	5147	PDE6D	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	65250	CPLANE1	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	51259	TMEM216	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	8481	OFD1	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	317662	FAM149B1	ORPHA:2754
HP:0009084	Midline notch of upper alveolar ridge	374654	KIF7	ORPHA:2754
HP:0000232	Everted lower lip vermilion	3480	IGF1R	ORPHA:73273
HP:0000232	Everted lower lip vermilion	7051	TGM1	OMIM:242300
HP:0000232	Everted lower lip vermilion	7051	TGM1	ORPHA:313
HP:0000232	Everted lower lip vermilion	26235	FBXL4	OMIM:615471
HP:0000232	Everted lower lip vermilion	30000	TNPO2	OMIM:619556
HP:0000232	Everted lower lip vermilion	54517	PUS7	OMIM:618342
HP:0000232	Everted lower lip vermilion	23241	PACS2	OMIM:618067
HP:0000232	Everted lower lip vermilion	26128	KIFBP	OMIM:609460
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:614940
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:614941
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:224900
HP:0000232	Everted lower lip vermilion	4204	MECP2	ORPHA:1762
HP:0000232	Everted lower lip vermilion	23394	ADNP	OMIM:615873
HP:0000232	Everted lower lip vermilion	9820	CUL7	ORPHA:2616
HP:0000232	Everted lower lip vermilion	23363	OBSL1	ORPHA:2616
HP:0000232	Everted lower lip vermilion	83987	CCDC8	ORPHA:2616
HP:0000232	Everted lower lip vermilion	57539	WDR35	OMIM:613610
HP:0000232	Everted lower lip vermilion	57539	WDR35	ORPHA:1515
HP:0000232	Everted lower lip vermilion	81857	MED25	OMIM:616449
HP:0000232	Everted lower lip vermilion	81857	MED25	ORPHA:464738
HP:0000232	Everted lower lip vermilion	55624	POMGNT1	OMIM:253280
HP:0000232	Everted lower lip vermilion	55777	MBD5	ORPHA:228402
HP:0000232	Everted lower lip vermilion	55777	MBD5	OMIM:156200
HP:0000232	Everted lower lip vermilion	79813	EHMT1	ORPHA:96147
HP:0000232	Everted lower lip vermilion	79813	EHMT1	OMIM:610253
HP:0000232	Everted lower lip vermilion	2629	GBA1	OMIM:608013
HP:0000232	Everted lower lip vermilion	51099	ABHD5	OMIM:275630
HP:0000232	Everted lower lip vermilion	5308	PITX2	ORPHA:782
HP:0000232	Everted lower lip vermilion	2296	FOXC1	ORPHA:782
HP:0000232	Everted lower lip vermilion	57465	TBC1D24	OMIM:220500
HP:0000232	Everted lower lip vermilion	116931	MED12L	OMIM:618872
HP:0000232	Everted lower lip vermilion	91179	SCARF2	OMIM:600920
HP:0000232	Everted lower lip vermilion	3020	H3-3A	OMIM:619720
HP:0000232	Everted lower lip vermilion	80816	ASXL3	OMIM:615485
HP:0000232	Everted lower lip vermilion	80816	ASXL3	ORPHA:352577
HP:0000232	Everted lower lip vermilion	283489	CHAMP1	OMIM:616579
HP:0000232	Everted lower lip vermilion	23384	SPECC1L	ORPHA:1519
HP:0000232	Everted lower lip vermilion	112752	IFT43	ORPHA:1515
HP:0000232	Everted lower lip vermilion	112752	IFT43	OMIM:614099
HP:0000232	Everted lower lip vermilion	51098	IFT52	ORPHA:1515
HP:0000232	Everted lower lip vermilion	55764	IFT122	ORPHA:1515
HP:0000232	Everted lower lip vermilion	55764	IFT122	OMIM:218330
HP:0000232	Everted lower lip vermilion	57728	WDR19	ORPHA:1515
HP:0000232	Everted lower lip vermilion	4952	OCRL	ORPHA:534
HP:0000232	Everted lower lip vermilion	29957	SLC25A24	ORPHA:2963
HP:0000232	Everted lower lip vermilion	29957	SLC25A24	OMIM:612289
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	OMIM:303600
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	ORPHA:276630
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	ORPHA:192
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	OMIM:300844
HP:0000232	Everted lower lip vermilion	5980	REV3L	ORPHA:570
HP:0000232	Everted lower lip vermilion	23129	PLXND1	ORPHA:570
HP:0000232	Everted lower lip vermilion	1896	EDA	OMIM:305100
HP:0000232	Everted lower lip vermilion	1896	EDA	ORPHA:181
HP:0000232	Everted lower lip vermilion	284058	KANSL1	ORPHA:363958
HP:0000232	Everted lower lip vermilion	284058	KANSL1	ORPHA:363965
HP:0000232	Everted lower lip vermilion	284058	KANSL1	OMIM:610443
HP:0000232	Everted lower lip vermilion	10265	IRX5	OMIM:611174
HP:0000232	Everted lower lip vermilion	80204	FBXO11	OMIM:618089
HP:0000232	Everted lower lip vermilion	7021	TFAP2B	ORPHA:46627
HP:0000232	Everted lower lip vermilion	2068	ERCC2	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2067	ERCC1	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2074	ERCC6	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2073	ERCC5	ORPHA:1466
HP:0000232	Everted lower lip vermilion	1009	CDH11	OMIM:619736
HP:0000232	Everted lower lip vermilion	546	ATRX	ORPHA:847
HP:0000232	Everted lower lip vermilion	6792	CDKL5	ORPHA:505652
HP:0000232	Everted lower lip vermilion	23258	DENND5A	OMIM:617281
HP:0000232	Everted lower lip vermilion	9509	ADAMTS2	OMIM:225410
HP:0000232	Everted lower lip vermilion	1193	CLIC2	ORPHA:324410
HP:0000232	Everted lower lip vermilion	4613	MYCN	OMIM:164280
HP:0000232	Everted lower lip vermilion	7020	TFAP2A	ORPHA:1297
HP:0000232	Everted lower lip vermilion	6638	SNRPN	ORPHA:177907
HP:0000232	Everted lower lip vermilion	4247	MGAT2	OMIM:212066
HP:0000232	Everted lower lip vermilion	151516	ASPRV1	ORPHA:313
HP:0000232	Everted lower lip vermilion	242	ALOX12B	ORPHA:313
HP:0000232	Everted lower lip vermilion	242	ALOX12B	OMIM:242100
HP:0000232	Everted lower lip vermilion	126410	CYP4F22	ORPHA:313
HP:0000232	Everted lower lip vermilion	6820	SULT2B1	ORPHA:313
HP:0000232	Everted lower lip vermilion	26154	ABCA12	ORPHA:313
HP:0000232	Everted lower lip vermilion	26154	ABCA12	OMIM:242500
HP:0000232	Everted lower lip vermilion	643418	LIPN	ORPHA:313
HP:0000232	Everted lower lip vermilion	59344	ALOXE3	ORPHA:313
HP:0000232	Everted lower lip vermilion	59344	ALOXE3	OMIM:242100
HP:0000232	Everted lower lip vermilion	348938	NIPAL4	ORPHA:313
HP:0000232	Everted lower lip vermilion	121214	SDR9C7	ORPHA:313
HP:0000232	Everted lower lip vermilion	79718	TBL1XR1	ORPHA:487825
HP:0000232	Everted lower lip vermilion	79718	TBL1XR1	OMIM:602342
HP:0000232	Everted lower lip vermilion	57167	SALL4	ORPHA:233
HP:0000232	Everted lower lip vermilion	9935	MAFB	ORPHA:233
HP:0000232	Everted lower lip vermilion	1123	CHN1	ORPHA:233
HP:0000232	Everted lower lip vermilion	6611	SMS	ORPHA:3063
HP:0000232	Everted lower lip vermilion	2290	FOXG1	ORPHA:261144
HP:0000232	Everted lower lip vermilion	10847	SRCAP	OMIM:619595
HP:0000232	Everted lower lip vermilion	56006	SMG9	OMIM:616920
HP:0000232	Everted lower lip vermilion	1909	EDNRA	OMIM:616367
HP:0000232	Everted lower lip vermilion	6804	STX1A	ORPHA:904
HP:0000232	Everted lower lip vermilion	7461	CLIP2	ORPHA:904
HP:0000232	Everted lower lip vermilion	84277	DNAJC30	ORPHA:904
HP:0000232	Everted lower lip vermilion	8468	FKBP6	ORPHA:904
HP:0000232	Everted lower lip vermilion	5982	RFC2	ORPHA:904
HP:0000232	Everted lower lip vermilion	2969	GTF2I	ORPHA:904
HP:0000232	Everted lower lip vermilion	3984	LIMK1	ORPHA:904
HP:0000232	Everted lower lip vermilion	9569	GTF2IRD1	ORPHA:904
HP:0000232	Everted lower lip vermilion	155382	VPS37D	ORPHA:904
HP:0000232	Everted lower lip vermilion	155368	METTL27	ORPHA:904
HP:0000232	Everted lower lip vermilion	114049	BUD23	ORPHA:904
HP:0000232	Everted lower lip vermilion	7458	EIF4H	ORPHA:904
HP:0000232	Everted lower lip vermilion	84163	GTF2IRD2	ORPHA:904
HP:0000232	Everted lower lip vermilion	9275	BCL7B	ORPHA:904
HP:0000232	Everted lower lip vermilion	26608	TBL2	ORPHA:904
HP:0000232	Everted lower lip vermilion	653361	NCF1	ORPHA:904
HP:0000232	Everted lower lip vermilion	135886	TMEM270	ORPHA:904
HP:0000232	Everted lower lip vermilion	51085	MLXIPL	ORPHA:904
HP:0000232	Everted lower lip vermilion	9031	BAZ1B	ORPHA:904
HP:0000232	Everted lower lip vermilion	2006	ELN	ORPHA:904
HP:0000232	Everted lower lip vermilion	85440	DOCK7	ORPHA:411986
HP:0000232	Everted lower lip vermilion	85440	DOCK7	OMIM:615859
HP:0000232	Everted lower lip vermilion	3425	IDUA	ORPHA:93474
HP:0000232	Everted lower lip vermilion	3425	IDUA	ORPHA:93473
HP:0000232	Everted lower lip vermilion	6134	RPL10	ORPHA:459070
HP:0000232	Everted lower lip vermilion	10913	EDAR	OMIM:224900
HP:0000232	Everted lower lip vermilion	6595	SMARCA2	ORPHA:3051
HP:0000232	Everted lower lip vermilion	6595	SMARCA2	OMIM:601358
HP:0000232	Everted lower lip vermilion	4893	NRAS	OMIM:137550
HP:0000232	Everted lower lip vermilion	3265	HRAS	OMIM:137550
HP:0000232	Everted lower lip vermilion	60401	EDA2R	ORPHA:181
HP:0000232	Everted lower lip vermilion	54828	BCAS3	OMIM:619641
HP:0000232	Everted lower lip vermilion	54870	QRICH1	OMIM:617982
HP:0000232	Everted lower lip vermilion	56098	PCDHGC4	OMIM:619880
HP:0000232	Everted lower lip vermilion	53335	BCL11A	OMIM:617101
HP:0000232	Everted lower lip vermilion	57688	ZSWIM6	OMIM:617865
HP:0000232	Everted lower lip vermilion	4784	NFIX	OMIM:614753
HP:0000232	Everted lower lip vermilion	4190	MDH1	OMIM:618959
HP:0000232	Everted lower lip vermilion	57192	MCOLN1	ORPHA:578
HP:0000232	Everted lower lip vermilion	2273	FHL1	OMIM:300280
HP:0000232	Everted lower lip vermilion	55691	FRMD4A	OMIM:616819
HP:0000232	Everted lower lip vermilion	3756	KCNH1	ORPHA:420561
HP:0000232	Everted lower lip vermilion	10430	TMEM147	OMIM:620075
HP:0000232	Everted lower lip vermilion	5080	PAX6	ORPHA:893
HP:0000232	Everted lower lip vermilion	627	BDNF	ORPHA:893
HP:0000232	Everted lower lip vermilion	7490	WT1	ORPHA:893
HP:0000232	Everted lower lip vermilion	7030	TFE3	OMIM:301066
HP:0000232	Everted lower lip vermilion	79989	IFT56	OMIM:619534
HP:0000232	Everted lower lip vermilion	650	BMP2	OMIM:617877
HP:0000232	Everted lower lip vermilion	9487	PIGL	OMIM:280000
HP:0000232	Everted lower lip vermilion	22930	RAB3GAP1	ORPHA:1387
HP:0000232	Everted lower lip vermilion	25782	RAB3GAP2	ORPHA:1387
HP:0000232	Everted lower lip vermilion	84700	MYO18B	OMIM:616549
HP:0000232	Everted lower lip vermilion	23389	MED13L	OMIM:616789
HP:0000232	Everted lower lip vermilion	138050	HGSNAT	OMIM:252930
HP:0000232	Everted lower lip vermilion	3778	KCNMA1	OMIM:618729
HP:0000232	Everted lower lip vermilion	3339	HSPG2	ORPHA:800
HP:0000232	Everted lower lip vermilion	1917	EEF1A2	OMIM:616393
HP:0000232	Everted lower lip vermilion	22907	DHX30	OMIM:617804
HP:0000232	Everted lower lip vermilion	2245	FGD1	ORPHA:915
HP:0000232	Everted lower lip vermilion	84168	ANTXR1	ORPHA:2067
HP:0000232	Everted lower lip vermilion	58508	KMT2C	OMIM:617768
HP:0000232	Everted lower lip vermilion	6664	SOX11	OMIM:615866
HP:0000232	Everted lower lip vermilion	4487	MSX1	ORPHA:2228
HP:0009088	Speech articulation difficulties	2592	GALT	ORPHA:79239
HP:0009088	Speech articulation difficulties	3064	HTT	ORPHA:399
HP:0009088	Speech articulation difficulties	6515	SLC2A3	ORPHA:399
HP:0009088	Speech articulation difficulties	4487	MSX1	ORPHA:141291
HP:0009088	Speech articulation difficulties	4487	MSX1	ORPHA:199302
HP:0009088	Speech articulation difficulties	4487	MSX1	ORPHA:199306
HP:0009088	Speech articulation difficulties	5818	NECTIN1	ORPHA:141291
HP:0009088	Speech articulation difficulties	5818	NECTIN1	ORPHA:199302
HP:0009088	Speech articulation difficulties	5818	NECTIN1	ORPHA:199306
HP:0009088	Speech articulation difficulties	8626	TP63	ORPHA:141291
HP:0009088	Speech articulation difficulties	8626	TP63	ORPHA:199302
HP:0009088	Speech articulation difficulties	8626	TP63	ORPHA:199306
HP:0009088	Speech articulation difficulties	3664	IRF6	ORPHA:141291
HP:0009088	Speech articulation difficulties	3664	IRF6	ORPHA:199302
HP:0009088	Speech articulation difficulties	3664	IRF6	ORPHA:199306
HP:0009088	Speech articulation difficulties	6638	SNRPN	ORPHA:177904
HP:0009088	Speech articulation difficulties	6638	SNRPN	ORPHA:177901
HP:0009088	Speech articulation difficulties	4692	NDN	ORPHA:177904
HP:0009088	Speech articulation difficulties	4692	NDN	ORPHA:177901
HP:0009088	Speech articulation difficulties	54551	MAGEL2	ORPHA:177904
HP:0009088	Speech articulation difficulties	54551	MAGEL2	ORPHA:177901
HP:0009088	Speech articulation difficulties	4948	OCA2	ORPHA:177904
HP:0009088	Speech articulation difficulties	4948	OCA2	ORPHA:177901
HP:0009088	Speech articulation difficulties	10735	STAG2	ORPHA:521258
HP:0009088	Speech articulation difficulties	5332	PLCB4	OMIM:614669
HP:0009088	Speech articulation difficulties	4137	MAPT	ORPHA:240112
HP:0009088	Speech articulation difficulties	4137	MAPT	ORPHA:240103
HP:0009088	Speech articulation difficulties	23732	FRRS1L	ORPHA:725
HP:0009088	Speech articulation difficulties	2903	GRIN2A	ORPHA:725
HP:0009088	Speech articulation difficulties	2903	GRIN2A	ORPHA:1945
HP:0009088	Speech articulation difficulties	2903	GRIN2A	ORPHA:98818
HP:0009088	Speech articulation difficulties	8659	ALDH4A1	ORPHA:79101
HP:0009088	Speech articulation difficulties	27286	SRPX2	ORPHA:1945
HP:0009088	Speech articulation difficulties	2566	GABRG2	ORPHA:1945
HP:0009088	Speech articulation difficulties	7314	UBB	ORPHA:99772
HP:0009088	Speech articulation difficulties	57822	GRHL3	ORPHA:99772
HP:0009088	Speech articulation difficulties	25970	SH2B1	ORPHA:261197
HP:0009088	Speech articulation difficulties	4763	NF1	ORPHA:363700
HP:0009088	Speech articulation difficulties	27086	FOXP1	ORPHA:391372
HP:0009088	Speech articulation difficulties	1739	DLG1	ORPHA:199306
HP:0009088	Speech articulation difficulties	652	BMP4	ORPHA:199306
HP:0009088	Speech articulation difficulties	999	CDH1	ORPHA:199306
HP:0009088	Speech articulation difficulties	5156	PDGFRA	ORPHA:199306
HP:0009088	Speech articulation difficulties	9411	ARHGAP29	ORPHA:199306
HP:0009088	Speech articulation difficulties	1748	DLX4	ORPHA:199306
HP:0009088	Speech articulation difficulties	2773	GNAI3	OMIM:602483
HP:0008501	Median cleft lip and palate	5727	PTCH1	OMIM:610828
HP:0008501	Median cleft lip and palate	7050	TGIF1	OMIM:142946
HP:0008501	Median cleft lip and palate	5626	PROP1	ORPHA:95494
HP:0008501	Median cleft lip and palate	2736	GLI2	ORPHA:95494
HP:0008501	Median cleft lip and palate	89884	LHX4	ORPHA:95494
HP:0008501	Median cleft lip and palate	3170	FOXA2	ORPHA:95494
HP:0008501	Median cleft lip and palate	5449	POU1F1	ORPHA:95494
HP:0008501	Median cleft lip and palate	8820	HESX1	ORPHA:95494
HP:0008501	Median cleft lip and palate	5015	OTX2	ORPHA:95494
HP:0008501	Median cleft lip and palate	1857	DVL3	ORPHA:3107
HP:0008501	Median cleft lip and palate	7474	WNT5A	ORPHA:3107
HP:0008501	Median cleft lip and palate	1855	DVL1	ORPHA:3107
HP:0008501	Median cleft lip and palate	2535	FZD2	ORPHA:3107
HP:0008501	Median cleft lip and palate	81031	SLC2A10	ORPHA:3342
HP:0008501	Median cleft lip and palate	6496	SIX3	OMIM:157170
HP:0008501	Median cleft lip and palate	56975	FAM20C	ORPHA:1832
HP:0000176	Submucous cleft hard palate	9949	AMMECR1	OMIM:300990
HP:0000176	Submucous cleft hard palate	9653	HS2ST1	OMIM:619194
HP:0000176	Submucous cleft hard palate	3981	LIG4	ORPHA:235
HP:0000176	Submucous cleft hard palate	54888	NSUN2	ORPHA:235
HP:0000176	Submucous cleft hard palate	10735	STAG2	OMIM:301043
HP:0000176	Submucous cleft hard palate	23347	SMCHD1	ORPHA:2250
HP:0000176	Submucous cleft hard palate	6477	SIAH1	OMIM:619314
HP:0000176	Submucous cleft hard palate	63895	PIEZO2	OMIM:114300
HP:0000176	Submucous cleft hard palate	63895	PIEZO2	ORPHA:2461
HP:0000176	Submucous cleft hard palate	9791	PTDSS1	ORPHA:2658
HP:0000176	Submucous cleft hard palate	6228	RPS23	OMIM:617412
HP:0000176	Submucous cleft hard palate	5885	RAD21	OMIM:614701
HP:0000176	Submucous cleft hard palate	673	BRAF	OMIM:115150
HP:0000176	Submucous cleft hard palate	673	BRAF	ORPHA:1340
HP:0000176	Submucous cleft hard palate	8452	CUL3	OMIM:619239
HP:0000176	Submucous cleft hard palate	6418	SET	OMIM:618106
HP:0000176	Submucous cleft hard palate	1280	COL2A1	OMIM:108300
HP:0000176	Submucous cleft hard palate	9839	ZEB2	OMIM:235730
HP:0000176	Submucous cleft hard palate	5575	PRKAR1B	OMIM:619680
HP:0000176	Submucous cleft hard palate	54880	BCOR	OMIM:300166
HP:0000176	Submucous cleft hard palate	54880	BCOR	ORPHA:2712
HP:0000176	Submucous cleft hard palate	1718	DHCR24	ORPHA:35107
HP:0000176	Submucous cleft hard palate	8443	GNPAT	OMIM:222765
HP:0000176	Submucous cleft hard palate	23498	HAAO	OMIM:617660
HP:0000176	Submucous cleft hard palate	29998	BICRA	OMIM:619325
HP:0000176	Submucous cleft hard palate	6651	SON	OMIM:617140
HP:0000176	Submucous cleft hard palate	10220	GDF11	OMIM:619122
HP:0000176	Submucous cleft hard palate	6662	SOX9	OMIM:114290
HP:0000176	Submucous cleft hard palate	9993	DGCR2	OMIM:192430
HP:0000176	Submucous cleft hard palate	8220	ESS2	OMIM:192430
HP:0000176	Submucous cleft hard palate	8214	DGCR6	OMIM:192430
HP:0000176	Submucous cleft hard palate	54487	DGCR8	OMIM:192430
HP:0000176	Submucous cleft hard palate	6899	TBX1	OMIM:192430
HP:0000176	Submucous cleft hard palate	84892	POMGNT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	148789	B3GALNT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	79147	FKRP	ORPHA:899
HP:0000176	Submucous cleft hard palate	29954	POMT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	9215	LARGE1	ORPHA:899
HP:0000176	Submucous cleft hard palate	1282	COL4A1	ORPHA:899
HP:0000176	Submucous cleft hard palate	729920	CRPPA	ORPHA:899
HP:0000176	Submucous cleft hard palate	10329	RXYLT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	1605	DAG1	ORPHA:899
HP:0000176	Submucous cleft hard palate	11041	B4GAT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	10585	POMT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	84197	POMK	ORPHA:899
HP:0000176	Submucous cleft hard palate	2218	FKTN	ORPHA:899
HP:0000176	Submucous cleft hard palate	55624	POMGNT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	3373	HYAL1	OMIM:601492
HP:0000176	Submucous cleft hard palate	5528	PPP2R5D	ORPHA:457279
HP:0000176	Submucous cleft hard palate	57479	PRR12	OMIM:619539
HP:0000176	Submucous cleft hard palate	100151683	RNU4ATAC	ORPHA:2636
HP:0000176	Submucous cleft hard palate	4000	LMNA	ORPHA:1662
HP:0000176	Submucous cleft hard palate	10269	ZMPSTE24	ORPHA:1662
HP:0000176	Submucous cleft hard palate	10269	ZMPSTE24	OMIM:275210
HP:0000176	Submucous cleft hard palate	93986	FOXP2	ORPHA:209908
HP:0000176	Submucous cleft hard palate	5604	MAP2K1	ORPHA:1340
HP:0000176	Submucous cleft hard palate	5605	MAP2K2	ORPHA:1340
HP:0000176	Submucous cleft hard palate	3845	KRAS	ORPHA:1340
HP:0000176	Submucous cleft hard palate	23522	KAT6B	ORPHA:3047
HP:0000176	Submucous cleft hard palate	6496	SIX3	OMIM:157170
HP:0000176	Submucous cleft hard palate	81620	CDT1	ORPHA:2554
HP:0000176	Submucous cleft hard palate	5000	ORC4	ORPHA:2554
HP:0000176	Submucous cleft hard palate	23594	ORC6	ORPHA:2554
HP:0000176	Submucous cleft hard palate	8318	CDC45	ORPHA:2554
HP:0000176	Submucous cleft hard palate	990	CDC6	ORPHA:2554
HP:0000176	Submucous cleft hard palate	990	CDC6	OMIM:613805
HP:0000176	Submucous cleft hard palate	4998	ORC1	ORPHA:2554
HP:0000176	Submucous cleft hard palate	51053	GMNN	ORPHA:2554
HP:0000176	Submucous cleft hard palate	26123	TCTN3	ORPHA:2753
HP:0000176	Submucous cleft hard palate	55553	SOX6	OMIM:618971
HP:0000176	Submucous cleft hard palate	10524	KAT5	OMIM:619103
HP:0000176	Submucous cleft hard palate	833	CARS1	OMIM:618891
HP:0000176	Submucous cleft hard palate	1009	CDH11	ORPHA:1299
HP:0000176	Submucous cleft hard palate	51729	WBP11	OMIM:619227
HP:0000176	Submucous cleft hard palate	219844	HYLS1	ORPHA:2189
HP:0000176	Submucous cleft hard palate	374654	KIF7	ORPHA:2189
HP:0000176	Submucous cleft hard palate	139285	AMER1	ORPHA:2780
HP:0000176	Submucous cleft hard palate	4089	SMAD4	ORPHA:2588
HP:0009092	Progressive alveolar ridge hypertropy	79158	GNPTAB	OMIM:252500
HP:0009094	Cleft lower alveolar ridge	9775	EIF4A3	OMIM:268305
HP:0000160	Narrow mouth	2137	EXTL3	ORPHA:508533
HP:0000160	Narrow mouth	25970	SH2B1	ORPHA:261222
HP:0000160	Narrow mouth	4621	MYH3	ORPHA:2053
HP:0000160	Narrow mouth	4621	MYH3	OMIM:618436
HP:0000160	Narrow mouth	4621	MYH3	ORPHA:1146
HP:0000160	Narrow mouth	4621	MYH3	OMIM:193700
HP:0000160	Narrow mouth	259232	NALCN	ORPHA:2053
HP:0000160	Narrow mouth	259232	NALCN	ORPHA:1146
HP:0000160	Narrow mouth	324	APC	ORPHA:261584
HP:0000160	Narrow mouth	894	CCND2	ORPHA:83473
HP:0000160	Narrow mouth	5296	PIK3R2	ORPHA:83473
HP:0000160	Narrow mouth	10000	AKT3	ORPHA:83473
HP:0000160	Narrow mouth	775	CACNA1C	OMIM:620029
HP:0000160	Narrow mouth	2720	GLB1	OMIM:230600
HP:0000160	Narrow mouth	5077	PAX3	ORPHA:1529
HP:0000160	Narrow mouth	4774	NFIA	OMIM:613735
HP:0000160	Narrow mouth	5457	POU4F1	ORPHA:314647
HP:0000160	Narrow mouth	23261	CAMTA1	ORPHA:314647
HP:0000160	Narrow mouth	23261	CAMTA1	OMIM:614756
HP:0000160	Narrow mouth	2629	GBA1	OMIM:608013
HP:0000160	Narrow mouth	23126	POGZ	ORPHA:468678
HP:0000160	Narrow mouth	5447	POR	ORPHA:95699
HP:0000160	Narrow mouth	4784	NFIX	ORPHA:447980
HP:0000160	Narrow mouth	4784	NFIX	ORPHA:420179
HP:0000160	Narrow mouth	4784	NFIX	OMIM:614753
HP:0000160	Narrow mouth	4312	MMP1	ORPHA:79408
HP:0000160	Narrow mouth	4312	MMP1	OMIM:226600
HP:0000160	Narrow mouth	1294	COL7A1	ORPHA:79408
HP:0000160	Narrow mouth	1294	COL7A1	OMIM:226600
HP:0000160	Narrow mouth	1294	COL7A1	ORPHA:89842
HP:0000160	Narrow mouth	116931	MED12L	OMIM:618872
HP:0000160	Narrow mouth	374654	KIF7	OMIM:200990
HP:0000160	Narrow mouth	3020	H3-3A	OMIM:619720
HP:0000160	Narrow mouth	613	BCR	ORPHA:261330
HP:0000160	Narrow mouth	1399	CRKL	ORPHA:261330
HP:0000160	Narrow mouth	5594	MAPK1	ORPHA:261330
HP:0000160	Narrow mouth	89910	UBE3B	OMIM:244450
HP:0000160	Narrow mouth	51506	UFC1	OMIM:618076
HP:0000160	Narrow mouth	4010	LMX1B	ORPHA:495818
HP:0000160	Narrow mouth	6812	STXBP1	ORPHA:495818
HP:0000160	Narrow mouth	341640	FREM2	OMIM:617666
HP:0000160	Narrow mouth	25914	RTTN	OMIM:614833
HP:0000160	Narrow mouth	25914	RTTN	ORPHA:468631
HP:0000160	Narrow mouth	10084	PQBP1	ORPHA:93946
HP:0000160	Narrow mouth	10084	PQBP1	OMIM:309500
HP:0000160	Narrow mouth	6662	SOX9	OMIM:114290
HP:0000160	Narrow mouth	28960	DCPS	OMIM:616459
HP:0000160	Narrow mouth	55636	CHD7	ORPHA:138
HP:0000160	Narrow mouth	9723	SEMA3E	ORPHA:138
HP:0000160	Narrow mouth	9382	COG1	OMIM:611209
HP:0000160	Narrow mouth	9382	COG1	ORPHA:263508
HP:0000160	Narrow mouth	1146	CHRNG	OMIM:265000
HP:0000160	Narrow mouth	80204	FBXO11	OMIM:618089
HP:0000160	Narrow mouth	113189	CHST14	ORPHA:2953
HP:0000160	Narrow mouth	113189	CHST14	OMIM:601776
HP:0000160	Narrow mouth	29940	DSE	ORPHA:2953
HP:0000160	Narrow mouth	29940	DSE	OMIM:615539
HP:0000160	Narrow mouth	4853	NOTCH2	OMIM:102500
HP:0000160	Narrow mouth	4853	NOTCH2	ORPHA:955
HP:0000160	Narrow mouth	55681	SCYL2	OMIM:618766
HP:0000160	Narrow mouth	55699	IARS2	ORPHA:436174
HP:0000160	Narrow mouth	55699	IARS2	OMIM:616007
HP:0000160	Narrow mouth	4604	MYBPC1	OMIM:618524
HP:0000160	Narrow mouth	4604	MYBPC1	ORPHA:1146
HP:0000160	Narrow mouth	2200	FBN1	ORPHA:969
HP:0000160	Narrow mouth	2200	FBN1	OMIM:102370
HP:0000160	Narrow mouth	4054	LTBP3	ORPHA:969
HP:0000160	Narrow mouth	3339	HSPG2	ORPHA:1865
HP:0000160	Narrow mouth	3339	HSPG2	ORPHA:1606
HP:0000160	Narrow mouth	3339	HSPG2	OMIM:224410
HP:0000160	Narrow mouth	3339	HSPG2	OMIM:255800
HP:0000160	Narrow mouth	3339	HSPG2	ORPHA:800
HP:0000160	Narrow mouth	9401	RECQL4	OMIM:218600
HP:0000160	Narrow mouth	9401	RECQL4	ORPHA:1225
HP:0000160	Narrow mouth	857	CAV1	OMIM:606721
HP:0000160	Narrow mouth	1281	COL3A1	ORPHA:286
HP:0000160	Narrow mouth	64919	BCL11B	OMIM:618092
HP:0000160	Narrow mouth	5424	POLD1	OMIM:615381
HP:0000160	Narrow mouth	26053	AUTS2	ORPHA:352490
HP:0000160	Narrow mouth	26053	AUTS2	OMIM:615834
HP:0000160	Narrow mouth	1301	COL11A1	OMIM:228520
HP:0000160	Narrow mouth	1301	COL11A1	ORPHA:2021
HP:0000160	Narrow mouth	4174	MCM5	OMIM:617564
HP:0000160	Narrow mouth	23327	NEDD4L	OMIM:617201
HP:0000160	Narrow mouth	57178	ZMIZ1	OMIM:618659
HP:0000160	Narrow mouth	23314	SATB2	OMIM:612313
HP:0000160	Narrow mouth	23314	SATB2	ORPHA:251028
HP:0000160	Narrow mouth	23314	SATB2	ORPHA:251019
HP:0000160	Narrow mouth	2783	GNB2	OMIM:619503
HP:0000160	Narrow mouth	1302	COL11A2	ORPHA:2021
HP:0000160	Narrow mouth	1906	EDN1	ORPHA:137888
HP:0000160	Narrow mouth	5332	PLCB4	ORPHA:137888
HP:0000160	Narrow mouth	5332	PLCB4	OMIM:614669
HP:0000160	Narrow mouth	2773	GNAI3	ORPHA:137888
HP:0000160	Narrow mouth	2773	GNAI3	OMIM:602483
HP:0000160	Narrow mouth	5728	PTEN	ORPHA:79076
HP:0000160	Narrow mouth	5728	PTEN	OMIM:158350
HP:0000160	Narrow mouth	657	BMPR1A	ORPHA:79076
HP:0000160	Narrow mouth	25942	SIN3A	OMIM:613406
HP:0000160	Narrow mouth	25942	SIN3A	ORPHA:94065
HP:0000160	Narrow mouth	2697	GJA1	OMIM:257850
HP:0000160	Narrow mouth	2316	FLNA	ORPHA:90652
HP:0000160	Narrow mouth	2316	FLNA	OMIM:304120
HP:0000160	Narrow mouth	2316	FLNA	OMIM:311300
HP:0000160	Narrow mouth	10801	SEPTIN9	OMIM:162100
HP:0000160	Narrow mouth	10801	SEPTIN9	ORPHA:2901
HP:0000160	Narrow mouth	11285	B4GALT7	OMIM:130070
HP:0000160	Narrow mouth	11285	B4GALT7	ORPHA:75496
HP:0000160	Narrow mouth	1182	CLCN3	OMIM:619512
HP:0000160	Narrow mouth	4593	MUSK	OMIM:208150
HP:0000160	Narrow mouth	7862	BRPF1	OMIM:617333
HP:0000160	Narrow mouth	5048	PAFAH1B1	ORPHA:217385
HP:0000160	Narrow mouth	7531	YWHAE	ORPHA:217385
HP:0000160	Narrow mouth	79633	FAT4	OMIM:616006
HP:0000160	Narrow mouth	79633	FAT4	ORPHA:2136
HP:0000160	Narrow mouth	79633	FAT4	ORPHA:314679
HP:0000160	Narrow mouth	9508	ADAMTS3	ORPHA:2136
HP:0000160	Narrow mouth	147372	CCBE1	ORPHA:2136
HP:0000160	Narrow mouth	147372	CCBE1	OMIM:235510
HP:0000160	Narrow mouth	10290	SPEG	OMIM:615959
HP:0000160	Narrow mouth	10290	SPEG	ORPHA:169186
HP:0000160	Narrow mouth	5590	PRKCZ	ORPHA:1606
HP:0000160	Narrow mouth	2563	GABRD	ORPHA:1606
HP:0000160	Narrow mouth	23013	SPEN	ORPHA:1606
HP:0000160	Narrow mouth	8510	MMP23B	ORPHA:1606
HP:0000160	Narrow mouth	7798	LUZP1	ORPHA:1606
HP:0000160	Narrow mouth	6497	SKI	ORPHA:1606
HP:0000160	Narrow mouth	10630	PDPN	ORPHA:1606
HP:0000160	Narrow mouth	10277	UBE4B	ORPHA:1606
HP:0000160	Narrow mouth	8514	KCNAB2	ORPHA:1606
HP:0000160	Narrow mouth	473	RERE	ORPHA:1606
HP:0000160	Narrow mouth	63976	PRDM16	ORPHA:1606
HP:0000160	Narrow mouth	54897	CASZ1	ORPHA:1606
HP:0000160	Narrow mouth	8626	TP63	OMIM:129400
HP:0000160	Narrow mouth	6134	RPL10	ORPHA:459070
HP:0000160	Narrow mouth	6134	RPL10	OMIM:300998
HP:0000160	Narrow mouth	11128	POLR3A	OMIM:264090
HP:0000160	Narrow mouth	11128	POLR3A	ORPHA:3455
HP:0000160	Narrow mouth	3675	ITGA3	OMIM:614748
HP:0000160	Narrow mouth	145258	GSC	OMIM:602471
HP:0000160	Narrow mouth	10907	TXNL4A	OMIM:608572
HP:0000160	Narrow mouth	55027	HEATR3	OMIM:620072
HP:0000160	Narrow mouth	26137	ZBTB20	OMIM:259050
HP:0000160	Narrow mouth	4094	MAF	ORPHA:1272
HP:0000160	Narrow mouth	4094	MAF	OMIM:601088
HP:0000160	Narrow mouth	4089	SMAD4	OMIM:139210
HP:0000160	Narrow mouth	4089	SMAD4	ORPHA:2588
HP:0000160	Narrow mouth	54928	BPNT2	OMIM:614078
HP:0000160	Narrow mouth	2263	FGFR2	OMIM:123790
HP:0000160	Narrow mouth	2263	FGFR2	ORPHA:1555
HP:0000160	Narrow mouth	7140	TNNT3	OMIM:618435
HP:0000160	Narrow mouth	7140	TNNT3	ORPHA:1146
HP:0000160	Narrow mouth	8642	DCHS1	ORPHA:314679
HP:0000160	Narrow mouth	5832	ALDH18A1	OMIM:219150
HP:0000160	Narrow mouth	84919	PPP1R15B	OMIM:616817
HP:0000160	Narrow mouth	84919	PPP1R15B	ORPHA:391408
HP:0000160	Narrow mouth	388015	RTL1	ORPHA:96334
HP:0000160	Narrow mouth	388015	RTL1	ORPHA:96184
HP:0000160	Narrow mouth	8788	DLK1	ORPHA:96334
HP:0000160	Narrow mouth	8788	DLK1	ORPHA:96184
HP:0000160	Narrow mouth	55384	MEG3	ORPHA:96334
HP:0000160	Narrow mouth	55384	MEG3	ORPHA:96184
HP:0000160	Narrow mouth	91949	COG7	ORPHA:79333
HP:0000160	Narrow mouth	91949	COG7	OMIM:608779
HP:0000160	Narrow mouth	124583	CANT1	OMIM:251450
HP:0000160	Narrow mouth	2556	GABRA3	OMIM:301091
HP:0000160	Narrow mouth	63895	PIEZO2	OMIM:248700
HP:0000160	Narrow mouth	63895	PIEZO2	ORPHA:2461
HP:0000160	Narrow mouth	23162	MAPK8IP3	OMIM:618443
HP:0000160	Narrow mouth	9968	MED12	OMIM:300895
HP:0000160	Narrow mouth	23483	TGDS	OMIM:616145
HP:0000160	Narrow mouth	4193	MDM2	OMIM:618681
HP:0000160	Narrow mouth	6949	TCOF1	OMIM:154500
HP:0000160	Narrow mouth	6949	TCOF1	ORPHA:861
HP:0000160	Narrow mouth	9652	SKIC3	OMIM:222470
HP:0000160	Narrow mouth	7169	TPM2	ORPHA:1146
HP:0000160	Narrow mouth	7169	TPM2	OMIM:108120
HP:0000160	Narrow mouth	7136	TNNI2	ORPHA:1146
HP:0000160	Narrow mouth	7136	TNNI2	OMIM:601680
HP:0000160	Narrow mouth	7994	KAT6A	OMIM:616268
HP:0000160	Narrow mouth	6261	RYR1	ORPHA:324581
HP:0000160	Narrow mouth	6261	RYR1	ORPHA:169186
HP:0000160	Narrow mouth	171023	ASXL1	OMIM:605039
HP:0000160	Narrow mouth	8621	CDK13	OMIM:617360
HP:0000160	Narrow mouth	9775	EIF4A3	OMIM:268305
HP:0000160	Narrow mouth	9427	ECEL1	OMIM:615065
HP:0000160	Narrow mouth	55212	BBS7	OMIM:615984
HP:0000160	Narrow mouth	6878	TAF6	OMIM:617126
HP:0000160	Narrow mouth	10664	CTCF	OMIM:615502
HP:0000160	Narrow mouth	10664	CTCF	ORPHA:363611
HP:0000160	Narrow mouth	10075	HUWE1	OMIM:309590
HP:0000160	Narrow mouth	9949	AMMECR1	OMIM:300990
HP:0000160	Narrow mouth	274	BIN1	ORPHA:169186
HP:0000160	Narrow mouth	7273	TTN	ORPHA:169186
HP:0000160	Narrow mouth	1280	COL2A1	OMIM:132450
HP:0000160	Narrow mouth	55217	TMLHE	OMIM:300872
HP:0000160	Narrow mouth	22856	CHSY1	ORPHA:363417
HP:0000160	Narrow mouth	5396	PRRX1	OMIM:202650
HP:0000160	Narrow mouth	5396	PRRX1	ORPHA:990
HP:0000160	Narrow mouth	6323	SCN1A	OMIM:619317
HP:0000160	Narrow mouth	4703	NEB	OMIM:256030
HP:0000160	Narrow mouth	7473	WNT3	ORPHA:3301
HP:0000160	Narrow mouth	340419	RSPO2	ORPHA:3301
HP:0000160	Narrow mouth	221496	LEMD2	OMIM:619322
HP:0000160	Narrow mouth	650	BMP2	ORPHA:261295
HP:0000160	Narrow mouth	91179	SCARF2	OMIM:600920
HP:0000160	Narrow mouth	6651	SON	OMIM:617140
HP:0000160	Narrow mouth	54101	RIPK4	ORPHA:1234
HP:0000160	Narrow mouth	3097	HIVEP2	OMIM:616977
HP:0000160	Narrow mouth	10982	MAPRE2	OMIM:616734
HP:0000160	Narrow mouth	10269	ZMPSTE24	ORPHA:90154
HP:0000160	Narrow mouth	10269	ZMPSTE24	OMIM:608612
HP:0000160	Narrow mouth	10269	ZMPSTE24	ORPHA:740
HP:0000160	Narrow mouth	10269	ZMPSTE24	ORPHA:1662
HP:0000160	Narrow mouth	10269	ZMPSTE24	OMIM:275210
HP:0000160	Narrow mouth	56975	FAM20C	OMIM:259775
HP:0000160	Narrow mouth	51132	RLIM	OMIM:300978
HP:0000160	Narrow mouth	22930	RAB3GAP1	OMIM:600118
HP:0000160	Narrow mouth	4998	ORC1	OMIM:224690
HP:0000160	Narrow mouth	4998	ORC1	ORPHA:2554
HP:0000160	Narrow mouth	8831	SYNGAP1	ORPHA:544254
HP:0000160	Narrow mouth	9325	TRIP4	OMIM:616866
HP:0000160	Narrow mouth	1312	COMT	ORPHA:567
HP:0000160	Narrow mouth	221037	JMJD1C	ORPHA:567
HP:0000160	Narrow mouth	2812	GP1BB	ORPHA:567
HP:0000160	Narrow mouth	6239	RREB1	ORPHA:567
HP:0000160	Narrow mouth	6899	TBX1	ORPHA:567
HP:0000160	Narrow mouth	7290	HIRA	ORPHA:567
HP:0000160	Narrow mouth	9632	SEC24C	ORPHA:567
HP:0000160	Narrow mouth	7353	UFD1	ORPHA:567
HP:0000160	Narrow mouth	421	ARVCF	ORPHA:567
HP:0000160	Narrow mouth	81620	CDT1	ORPHA:2554
HP:0000160	Narrow mouth	81620	CDT1	OMIM:613804
HP:0000160	Narrow mouth	5000	ORC4	ORPHA:2554
HP:0000160	Narrow mouth	5000	ORC4	OMIM:613800
HP:0000160	Narrow mouth	23594	ORC6	ORPHA:2554
HP:0000160	Narrow mouth	23594	ORC6	OMIM:613803
HP:0000160	Narrow mouth	8318	CDC45	ORPHA:2554
HP:0000160	Narrow mouth	8318	CDC45	OMIM:617063
HP:0000160	Narrow mouth	990	CDC6	ORPHA:2554
HP:0000160	Narrow mouth	51053	GMNN	ORPHA:2554
HP:0000160	Narrow mouth	7703	PCGF2	OMIM:618371
HP:0000160	Narrow mouth	6045	RNF2	OMIM:619460
HP:0000160	Narrow mouth	9496	TBX4	ORPHA:261279
HP:0000160	Narrow mouth	5277	PIGA	OMIM:300868
HP:0000160	Narrow mouth	26040	SETBP1	OMIM:616078
HP:0000160	Narrow mouth	128637	TBC1D20	OMIM:615663
HP:0000160	Narrow mouth	55210	ATAD3A	OMIM:618810
HP:0000160	Narrow mouth	9244	CRLF1	OMIM:272430
HP:0000160	Narrow mouth	9244	CRLF1	ORPHA:1545
HP:0000160	Narrow mouth	55644	OSGEP	OMIM:617729
HP:0000160	Narrow mouth	760	CA2	ORPHA:2785
HP:0000160	Narrow mouth	29980	DONSON	OMIM:251230
HP:0000160	Narrow mouth	6611	SMS	ORPHA:3063
HP:0000160	Narrow mouth	5015	OTX2	ORPHA:990
HP:0000160	Narrow mouth	5281	PIGF	OMIM:619356
HP:0000160	Narrow mouth	29895	MYL11	OMIM:619110
HP:0000160	Narrow mouth	1387	CREBBP	OMIM:180849
HP:0000160	Narrow mouth	2033	EP300	OMIM:180849
HP:0000160	Narrow mouth	29957	SLC25A24	OMIM:612289
HP:0000160	Narrow mouth	79005	SCNM1	OMIM:620107
HP:0000160	Narrow mouth	80152	CENPT	OMIM:618702
HP:0000160	Narrow mouth	23545	ATP6V0A2	OMIM:219200
HP:0000160	Narrow mouth	11198	SUPT16H	OMIM:619480
HP:0000160	Narrow mouth	2887	GRB10	ORPHA:96182
HP:0000160	Narrow mouth	4000	LMNA	ORPHA:740
HP:0000160	Narrow mouth	4000	LMNA	ORPHA:1662
HP:0000160	Narrow mouth	84172	POLR1B	ORPHA:861
HP:0000160	Narrow mouth	9533	POLR1C	ORPHA:861
HP:0000160	Narrow mouth	51082	POLR1D	ORPHA:861
HP:0000160	Narrow mouth	23556	PIGN	ORPHA:280633
HP:0000160	Narrow mouth	1718	DHCR24	ORPHA:35107
HP:0000160	Narrow mouth	203068	TUBB	OMIM:156610
HP:0000160	Narrow mouth	8567	MADD	OMIM:619004
HP:0000160	Narrow mouth	4841	NONO	OMIM:300967
HP:0000160	Narrow mouth	10651	MTX2	OMIM:619127
HP:0000160	Narrow mouth	9702	CEP57	OMIM:614114
HP:0000160	Narrow mouth	57570	TRMT5	OMIM:616539
HP:0000160	Narrow mouth	7291	TWIST1	OMIM:617746
HP:0000160	Narrow mouth	93587	TRMT10A	ORPHA:391408
HP:0000160	Narrow mouth	2186	BPTF	OMIM:617755
HP:0000160	Narrow mouth	203190	LGI3	OMIM:620007
HP:0000160	Narrow mouth	23529	CLCF1	ORPHA:1545
HP:0000160	Narrow mouth	5727	PTCH1	ORPHA:77301
HP:0000160	Narrow mouth	11011	TLK2	OMIM:618050
HP:0000160	Narrow mouth	9469	CHST3	OMIM:245600
HP:0000160	Narrow mouth	26229	B3GAT3	OMIM:245600
HP:0000160	Narrow mouth	4204	MECP2	OMIM:300260
HP:0000160	Narrow mouth	55553	SOX6	OMIM:618971
HP:0000160	Narrow mouth	3735	KARS1	OMIM:619147
HP:0000160	Narrow mouth	221692	PHACTR1	OMIM:618298
HP:0000160	Narrow mouth	529	ATP6V1E1	OMIM:617402
HP:0000160	Narrow mouth	5290	PIK3CA	OMIM:615108
HP:0000160	Narrow mouth	207	AKT1	OMIM:615109
HP:0000160	Narrow mouth	3480	IGF1R	OMIM:270450
HP:0000160	Narrow mouth	121340	SP7	OMIM:613849
HP:0009098	Chronic oral candidiasis	3561	IL2RG	ORPHA:276
HP:0009098	Chronic oral candidiasis	3561	IL2RG	OMIM:300400
HP:0009098	Chronic oral candidiasis	64170	CARD9	OMIM:212050
HP:0009098	Chronic oral candidiasis	84905	ZNF341	OMIM:618282
HP:0009098	Chronic oral candidiasis	915	CD3D	ORPHA:169160
HP:0009098	Chronic oral candidiasis	916	CD3E	ORPHA:169160
HP:0009098	Chronic oral candidiasis	919	CD247	ORPHA:169160
HP:0009098	Chronic oral candidiasis	64421	DCLRE1C	ORPHA:275
HP:0009098	Chronic oral candidiasis	3551	IKBKB	OMIM:615592
HP:0009098	Chronic oral candidiasis	6772	STAT1	OMIM:614162
HP:0009098	Chronic oral candidiasis	326	AIRE	OMIM:240300
HP:0009098	Chronic oral candidiasis	7037	TFRC	OMIM:616740
HP:0009098	Chronic oral candidiasis	6097	RORC	OMIM:616622
HP:0009098	Chronic oral candidiasis	4598	MVK	OMIM:260920
HP:0009098	Chronic oral candidiasis	3932	LCK	OMIM:615758
HP:0009098	Chronic oral candidiasis	23765	IL17RA	OMIM:613953
HP:0009098	Chronic oral candidiasis	959	CD40LG	OMIM:308230
HP:0009098	Chronic oral candidiasis	5293	PIK3CD	ORPHA:221139
HP:0009098	Chronic oral candidiasis	90417	KNSTRN	ORPHA:221139
HP:0009098	Chronic oral candidiasis	8546	AP3B1	OMIM:608233
HP:0009098	Chronic oral candidiasis	51311	TLR8	OMIM:301078
HP:0009098	Chronic oral candidiasis	9948	WDR1	OMIM:150550
HP:0009098	Chronic oral candidiasis	28755	TRAC	OMIM:615387
HP:0009098	Chronic oral candidiasis	11151	CORO1A	OMIM:615401
HP:0009098	Chronic oral candidiasis	1794	DOCK2	OMIM:616433
HP:0009098	Chronic oral candidiasis	10758	TRAF3IP2	OMIM:615527
HP:0009098	Chronic oral candidiasis	917	CD3G	OMIM:615607
HP:0009098	Chronic oral candidiasis	7535	ZAP70	ORPHA:911
HP:0009098	Chronic oral candidiasis	3559	IL2RA	OMIM:606367
HP:0009098	Chronic oral candidiasis	3718	JAK3	ORPHA:35078
HP:0009099	Median cleft palate	7050	TGIF1	OMIM:142946
HP:0009099	Median cleft palate	5626	PROP1	ORPHA:95494
HP:0009099	Median cleft palate	2736	GLI2	ORPHA:95494
HP:0009099	Median cleft palate	89884	LHX4	ORPHA:95494
HP:0009099	Median cleft palate	3170	FOXA2	ORPHA:95494
HP:0009099	Median cleft palate	5449	POU1F1	ORPHA:95494
HP:0009099	Median cleft palate	8820	HESX1	ORPHA:95494
HP:0009099	Median cleft palate	5015	OTX2	ORPHA:95494
HP:0009099	Median cleft palate	1857	DVL3	ORPHA:3107
HP:0009099	Median cleft palate	7474	WNT5A	ORPHA:3107
HP:0009099	Median cleft palate	1855	DVL1	ORPHA:3107
HP:0009099	Median cleft palate	2535	FZD2	ORPHA:3107
HP:0009099	Median cleft palate	81031	SLC2A10	ORPHA:3342
HP:0009099	Median cleft palate	6496	SIX3	OMIM:157170
HP:0009099	Median cleft palate	56975	FAM20C	ORPHA:1832
HP:0009099	Median cleft palate	5727	PTCH1	OMIM:610828
HP:0009099	Median cleft palate	257	ALX3	OMIM:136760
HP:0009099	Median cleft palate	57724	EPG5	OMIM:242840
HP:0009099	Median cleft palate	10735	STAG2	OMIM:301043
HP:0009099	Median cleft palate	5307	PITX1	OMIM:119800
HP:0009099	Median cleft palate	81788	NUAK2	OMIM:619452
HP:0009099	Median cleft palate	529	ATP6V1E1	OMIM:617402
HP:0009099	Median cleft palate	22858	CILK1	OMIM:612651
HP:0009099	Median cleft palate	3930	LBR	OMIM:169400
HP:0009099	Median cleft palate	7291	TWIST1	OMIM:617746
HP:0009099	Median cleft palate	57688	ZSWIM6	ORPHA:1827
HP:0006600	Progressive calcification of costochondral cartilage	4921	DDR2	OMIM:271665
HP:0006709	Aplasia/Hypoplasia of the nipples	23476	BRD4	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	9126	SMC3	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	8243	SMC1A	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	25836	NIPBL	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	25836	NIPBL	OMIM:122470
HP:0006709	Aplasia/Hypoplasia of the nipples	55869	HDAC8	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	5885	RAD21	ORPHA:199
HP:0006709	Aplasia/Hypoplasia of the nipples	64840	PORCN	OMIM:305600
HP:0006709	Aplasia/Hypoplasia of the nipples	57003	CCDC47	OMIM:618268
HP:0006709	Aplasia/Hypoplasia of the nipples	23135	KDM6B	OMIM:618505
HP:0006709	Aplasia/Hypoplasia of the nipples	8239	USP9X	ORPHA:480880
HP:0006709	Aplasia/Hypoplasia of the nipples	5828	PEX2	OMIM:614866
HP:0006709	Aplasia/Hypoplasia of the nipples	79796	ALG9	ORPHA:79328
HP:0006709	Aplasia/Hypoplasia of the nipples	4247	MGAT2	ORPHA:79329
HP:0006709	Aplasia/Hypoplasia of the nipples	197131	UBR1	OMIM:243800
HP:0006709	Aplasia/Hypoplasia of the nipples	203068	TUBB	OMIM:156610
HP:0006709	Aplasia/Hypoplasia of the nipples	388015	RTL1	ORPHA:96334
HP:0006709	Aplasia/Hypoplasia of the nipples	8788	DLK1	ORPHA:96334
HP:0006709	Aplasia/Hypoplasia of the nipples	55384	MEG3	ORPHA:96334
HP:0006709	Aplasia/Hypoplasia of the nipples	6926	TBX3	ORPHA:3138
HP:0006709	Aplasia/Hypoplasia of the nipples	6926	TBX3	OMIM:181450
HP:0006709	Aplasia/Hypoplasia of the nipples	1146	CHRNG	OMIM:265000
HP:0006709	Aplasia/Hypoplasia of the nipples	56992	KIF15	ORPHA:261323
HP:0006709	Aplasia/Hypoplasia of the nipples	10020	GNE	OMIM:269921
HP:0006709	Aplasia/Hypoplasia of the nipples	84168	ANTXR1	OMIM:230740
HP:0006709	Aplasia/Hypoplasia of the nipples	7476	WNT7A	OMIM:276820
HP:0006709	Aplasia/Hypoplasia of the nipples	3858	KRT10	OMIM:609165
HP:0006709	Aplasia/Hypoplasia of the nipples	1954	MEGF8	OMIM:614976
HP:0006709	Aplasia/Hypoplasia of the nipples	79633	FAT4	OMIM:615546
HP:0006709	Aplasia/Hypoplasia of the nipples	8517	IKBKG	OMIM:308300
HP:0006709	Aplasia/Hypoplasia of the nipples	26040	SETBP1	OMIM:269150
HP:0006709	Aplasia/Hypoplasia of the nipples	9896	FIG4	OMIM:216340
HP:0006709	Aplasia/Hypoplasia of the nipples	1896	EDA	OMIM:305100
HP:0006709	Aplasia/Hypoplasia of the nipples	8626	TP63	ORPHA:69085
HP:0006709	Aplasia/Hypoplasia of the nipples	8626	TP63	ORPHA:978
HP:0006709	Aplasia/Hypoplasia of the nipples	8626	TP63	OMIM:103285
HP:0006709	Aplasia/Hypoplasia of the nipples	340419	RSPO2	OMIM:618021
HP:0006709	Aplasia/Hypoplasia of the nipples	5792	PTPRF	OMIM:616001
HP:0006709	Aplasia/Hypoplasia of the nipples	128178	EDARADD	OMIM:614940
HP:0006709	Aplasia/Hypoplasia of the nipples	128178	EDARADD	OMIM:614941
HP:0006709	Aplasia/Hypoplasia of the nipples	29957	SLC25A24	OMIM:612289
HP:0006709	Aplasia/Hypoplasia of the nipples	117581	TWIST2	OMIM:209885
HP:0006709	Aplasia/Hypoplasia of the nipples	1009	CDH11	ORPHA:1299
HP:0006709	Aplasia/Hypoplasia of the nipples	8085	KMT2D	OMIM:620186
HP:0006709	Aplasia/Hypoplasia of the nipples	9897	WASHC5	ORPHA:7
HP:0006709	Aplasia/Hypoplasia of the nipples	28952	CCDC22	ORPHA:7
HP:0006709	Aplasia/Hypoplasia of the nipples	284252	KCTD1	OMIM:181270
HP:0006709	Aplasia/Hypoplasia of the nipples	284252	KCTD1	ORPHA:2036
HP:0006709	Aplasia/Hypoplasia of the nipples	55697	VAC14	ORPHA:3472
HP:0006709	Aplasia/Hypoplasia of the nipples	10815	CPLX1	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	54872	PIGG	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	7469	NELFA	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	1487	CTBP1	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	3954	LETM1	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	7468	NSD2	ORPHA:280
HP:0006709	Aplasia/Hypoplasia of the nipples	1947	EFNB1	ORPHA:1520
HP:0006709	Aplasia/Hypoplasia of the nipples	23556	PIGN	ORPHA:2059
HP:0006709	Aplasia/Hypoplasia of the nipples	9487	PIGL	ORPHA:3474
HP:0006709	Aplasia/Hypoplasia of the nipples	7473	WNT3	ORPHA:3301
HP:0006603	Flared, irregular rib ends	4322	MMP13	OMIM:602111
HP:0000776	Congenital diaphragmatic hernia	8243	SMC1A	OMIM:301044
HP:0000776	Congenital diaphragmatic hernia	8243	SMC1A	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	10262	SF3B4	OMIM:154400
HP:0000776	Congenital diaphragmatic hernia	1947	EFNB1	ORPHA:1520
HP:0000776	Congenital diaphragmatic hernia	1947	EFNB1	OMIM:304110
HP:0000776	Congenital diaphragmatic hernia	23556	PIGN	ORPHA:2059
HP:0000776	Congenital diaphragmatic hernia	23556	PIGN	OMIM:614080
HP:0000776	Congenital diaphragmatic hernia	23414	ZFPM2	OMIM:610187
HP:0000776	Congenital diaphragmatic hernia	23414	ZFPM2	ORPHA:2140
HP:0000776	Congenital diaphragmatic hernia	9759	HDAC4	ORPHA:1001
HP:0000776	Congenital diaphragmatic hernia	5111	PCNA	OMIM:615919
HP:0000776	Congenital diaphragmatic hernia	5111	PCNA	ORPHA:438134
HP:0000776	Congenital diaphragmatic hernia	64220	STRA6	OMIM:601186
HP:0000776	Congenital diaphragmatic hernia	64220	STRA6	ORPHA:2470
HP:0000776	Congenital diaphragmatic hernia	23126	POGZ	ORPHA:468678
HP:0000776	Congenital diaphragmatic hernia	23126	POGZ	OMIM:616364
HP:0000776	Congenital diaphragmatic hernia	2316	FLNA	ORPHA:99811
HP:0000776	Congenital diaphragmatic hernia	2737	GLI3	ORPHA:36
HP:0000776	Congenital diaphragmatic hernia	2737	GLI3	ORPHA:380
HP:0000776	Congenital diaphragmatic hernia	374654	KIF7	ORPHA:36
HP:0000776	Congenital diaphragmatic hernia	1349	COX7B	OMIM:300887
HP:0000776	Congenital diaphragmatic hernia	1349	COX7B	ORPHA:2556
HP:0000776	Congenital diaphragmatic hernia	1349	COX7B	OMIM:309801
HP:0000776	Congenital diaphragmatic hernia	113179	ADAT3	ORPHA:363528
HP:0000776	Congenital diaphragmatic hernia	55784	MCTP2	ORPHA:1596
HP:0000776	Congenital diaphragmatic hernia	8085	KMT2D	ORPHA:2322
HP:0000776	Congenital diaphragmatic hernia	7403	KDM6A	ORPHA:2322
HP:0000776	Congenital diaphragmatic hernia	30008	EFEMP2	OMIM:614437
HP:0000776	Congenital diaphragmatic hernia	5915	RARB	OMIM:615524
HP:0000776	Congenital diaphragmatic hernia	5915	RARB	ORPHA:2470
HP:0000776	Congenital diaphragmatic hernia	1717	DHCR7	ORPHA:818
HP:0000776	Congenital diaphragmatic hernia	3736	KCNA1	ORPHA:972
HP:0000776	Congenital diaphragmatic hernia	1146	CHRNG	OMIM:265000
HP:0000776	Congenital diaphragmatic hernia	10735	STAG2	OMIM:301022
HP:0000776	Congenital diaphragmatic hernia	51132	RLIM	OMIM:300978
HP:0000776	Congenital diaphragmatic hernia	57492	ARID1B	OMIM:135900
HP:0000776	Congenital diaphragmatic hernia	51434	ANAPC7	OMIM:619699
HP:0000776	Congenital diaphragmatic hernia	1147	CHUK	OMIM:613630
HP:0000776	Congenital diaphragmatic hernia	134701	RIPPLY2	ORPHA:2311
HP:0000776	Congenital diaphragmatic hernia	10683	DLL3	ORPHA:2311
HP:0000776	Congenital diaphragmatic hernia	3955	LFNG	ORPHA:2311
HP:0000776	Congenital diaphragmatic hernia	84667	HES7	ORPHA:2311
HP:0000776	Congenital diaphragmatic hernia	145873	MESP2	ORPHA:2311
HP:0000776	Congenital diaphragmatic hernia	54539	NDUFB11	ORPHA:2556
HP:0000776	Congenital diaphragmatic hernia	54539	NDUFB11	OMIM:309801
HP:0000776	Congenital diaphragmatic hernia	3052	HCCS	ORPHA:2556
HP:0000776	Congenital diaphragmatic hernia	3052	HCCS	OMIM:309801
HP:0000776	Congenital diaphragmatic hernia	2626	GATA4	ORPHA:251071
HP:0000776	Congenital diaphragmatic hernia	25942	SIN3A	ORPHA:94065
HP:0000776	Congenital diaphragmatic hernia	25942	SIN3A	OMIM:613406
HP:0000776	Congenital diaphragmatic hernia	10815	CPLX1	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	54872	PIGG	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	7469	NELFA	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	1487	CTBP1	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	3954	LETM1	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	7468	NSD2	ORPHA:280
HP:0000776	Congenital diaphragmatic hernia	22872	SEC31A	OMIM:618651
HP:0000776	Congenital diaphragmatic hernia	9361	LONP1	ORPHA:2140
HP:0000776	Congenital diaphragmatic hernia	4330	MN1	OMIM:618774
HP:0000776	Congenital diaphragmatic hernia	79796	ALG9	OMIM:263210
HP:0000776	Congenital diaphragmatic hernia	6885	MAP3K7	OMIM:157800
HP:0000776	Congenital diaphragmatic hernia	25	ABL1	OMIM:617602
HP:0000776	Congenital diaphragmatic hernia	4036	LRP2	ORPHA:2143
HP:0000776	Congenital diaphragmatic hernia	4036	LRP2	OMIM:222448
HP:0000776	Congenital diaphragmatic hernia	10046	MAMLD1	ORPHA:95706
HP:0000776	Congenital diaphragmatic hernia	367	AR	ORPHA:95706
HP:0000776	Congenital diaphragmatic hernia	4524	MTHFR	ORPHA:563609
HP:0000776	Congenital diaphragmatic hernia	57216	VANGL2	ORPHA:563609
HP:0000776	Congenital diaphragmatic hernia	6234	RPS28	OMIM:606164
HP:0000776	Congenital diaphragmatic hernia	23476	BRD4	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	9126	SMC3	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	25836	NIPBL	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	25836	NIPBL	OMIM:122470
HP:0000776	Congenital diaphragmatic hernia	55869	HDAC8	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	5885	RAD21	ORPHA:199
HP:0000776	Congenital diaphragmatic hernia	129563	DIS3L2	OMIM:267000
HP:0000776	Congenital diaphragmatic hernia	64840	PORCN	OMIM:305600
HP:0000776	Congenital diaphragmatic hernia	64840	PORCN	ORPHA:2092
HP:0000776	Congenital diaphragmatic hernia	340419	RSPO2	OMIM:618022
HP:0000776	Congenital diaphragmatic hernia	4094	MAF	ORPHA:1272
HP:0000776	Congenital diaphragmatic hernia	10293	TRAIP	OMIM:616777
HP:0000776	Congenital diaphragmatic hernia	79971	WLS	OMIM:619648
HP:0000776	Congenital diaphragmatic hernia	745	MYRF	OMIM:618280
HP:0000776	Congenital diaphragmatic hernia	2239	GPC4	ORPHA:373
HP:0000776	Congenital diaphragmatic hernia	2239	GPC4	OMIM:312870
HP:0000776	Congenital diaphragmatic hernia	2719	GPC3	ORPHA:373
HP:0000776	Congenital diaphragmatic hernia	2719	GPC3	OMIM:312870
HP:0000776	Congenital diaphragmatic hernia	81031	SLC2A10	OMIM:208050
HP:0000776	Congenital diaphragmatic hernia	9786	KIAA0586	OMIM:616546
HP:0000776	Congenital diaphragmatic hernia	51780	KDM3B	OMIM:618846
HP:0000776	Congenital diaphragmatic hernia	10225	CD96	ORPHA:1308
HP:0000776	Congenital diaphragmatic hernia	7473	WNT3	OMIM:273395
HP:0000776	Congenital diaphragmatic hernia	54361	WNT4	OMIM:611812
HP:0000776	Congenital diaphragmatic hernia	54361	WNT4	ORPHA:139466
HP:0000776	Congenital diaphragmatic hernia	3239	HOXD13	ORPHA:887
HP:0000776	Congenital diaphragmatic hernia	10516	FBLN5	OMIM:219100
HP:0000776	Congenital diaphragmatic hernia	9469	CHST3	OMIM:245600
HP:0000776	Congenital diaphragmatic hernia	26229	B3GAT3	OMIM:245600
HP:0000776	Congenital diaphragmatic hernia	25970	SH2B1	ORPHA:261197
HP:0000776	Congenital diaphragmatic hernia	8295	TRRAP	OMIM:618454
HP:0000776	Congenital diaphragmatic hernia	5087	PBX1	OMIM:617641
HP:0000776	Congenital diaphragmatic hernia	4281	MID1	ORPHA:2745
HP:0000776	Congenital diaphragmatic hernia	51339	DACT1	ORPHA:63260
HP:0000776	Congenital diaphragmatic hernia	9935	MAFB	OMIM:166300
HP:0000776	Congenital diaphragmatic hernia	7026	NR2F2	OMIM:618901
HP:0000776	Congenital diaphragmatic hernia	2627	GATA6	OMIM:600001
HP:0000776	Congenital diaphragmatic hernia	79133	NDUFAF5	OMIM:618238
HP:0000776	Congenital diaphragmatic hernia	8854	ALDH1A2	OMIM:620025
HP:0000776	Congenital diaphragmatic hernia	8425	LTBP4	OMIM:613177
HP:0000776	Congenital diaphragmatic hernia	6231	RPS26	OMIM:613309
HP:0000776	Congenital diaphragmatic hernia	8493	PPM1D	OMIM:617450
HP:0000776	Congenital diaphragmatic hernia	6598	SMARCB1	OMIM:614608
HP:0000776	Congenital diaphragmatic hernia	7490	WT1	OMIM:608978
HP:0000776	Congenital diaphragmatic hernia	9578	CDC42BPB	OMIM:619841
HP:0006608	Midclavicular hypoplasia	64840	PORCN	OMIM:305600
HP:0006608	Midclavicular hypoplasia	5728	PTEN	ORPHA:79076
HP:0006608	Midclavicular hypoplasia	657	BMPR1A	ORPHA:79076
HP:0100853	Hypoplastic areola	79718	TBL1XR1	OMIM:602342
HP:0100853	Hypoplastic areola	5792	PTPRF	OMIM:616001
HP:0006610	Wide intermamillary distance	3480	IGF1R	ORPHA:73273
HP:0006610	Wide intermamillary distance	3480	IGF1R	OMIM:270450
HP:0006610	Wide intermamillary distance	9949	AMMECR1	OMIM:300990
HP:0006610	Wide intermamillary distance	2260	FGFR1	ORPHA:432
HP:0006610	Wide intermamillary distance	81848	SPRY4	ORPHA:432
HP:0006610	Wide intermamillary distance	128674	PROKR2	ORPHA:432
HP:0006610	Wide intermamillary distance	2253	FGF8	ORPHA:432
HP:0006610	Wide intermamillary distance	60675	PROK2	ORPHA:432
HP:0006610	Wide intermamillary distance	55636	CHD7	ORPHA:432
HP:0006610	Wide intermamillary distance	6870	TACR3	ORPHA:432
HP:0006610	Wide intermamillary distance	1848	DUSP6	ORPHA:432
HP:0006610	Wide intermamillary distance	26012	NSMF	ORPHA:432
HP:0006610	Wide intermamillary distance	55717	WDR11	ORPHA:432
HP:0006610	Wide intermamillary distance	9394	HS6ST1	ORPHA:432
HP:0006610	Wide intermamillary distance	2796	GNRH1	ORPHA:432
HP:0006610	Wide intermamillary distance	2798	GNRHR	ORPHA:432
HP:0006610	Wide intermamillary distance	84634	KISS1R	ORPHA:432
HP:0006610	Wide intermamillary distance	6866	TAC3	ORPHA:432
HP:0006610	Wide intermamillary distance	8822	FGF17	ORPHA:432
HP:0006610	Wide intermamillary distance	3814	KISS1	ORPHA:432
HP:0006610	Wide intermamillary distance	55906	ZC4H2	OMIM:301041
HP:0006610	Wide intermamillary distance	23394	ADNP	ORPHA:404448
HP:0006610	Wide intermamillary distance	199857	ALG14	OMIM:619036
HP:0006610	Wide intermamillary distance	341640	FREM2	ORPHA:2052
HP:0006610	Wide intermamillary distance	80144	FRAS1	ORPHA:2052
HP:0006610	Wide intermamillary distance	80144	FRAS1	OMIM:219000
HP:0006610	Wide intermamillary distance	23426	GRIP1	ORPHA:2052
HP:0006610	Wide intermamillary distance	26128	KIFBP	OMIM:609460
HP:0006610	Wide intermamillary distance	23556	PIGN	ORPHA:2059
HP:0006610	Wide intermamillary distance	9759	HDAC4	ORPHA:1001
HP:0006610	Wide intermamillary distance	55627	SMPD4	OMIM:618622
HP:0006610	Wide intermamillary distance	145173	B3GLCT	ORPHA:709
HP:0006610	Wide intermamillary distance	145173	B3GLCT	OMIM:261540
HP:0006610	Wide intermamillary distance	79796	ALG9	OMIM:608776
HP:0006610	Wide intermamillary distance	79848	CSPP1	ORPHA:397715
HP:0006610	Wide intermamillary distance	9786	KIAA0586	ORPHA:397715
HP:0006610	Wide intermamillary distance	7707	ZNF148	OMIM:617260
HP:0006610	Wide intermamillary distance	1349	COX7B	OMIM:300887
HP:0006610	Wide intermamillary distance	10300	KATNB1	OMIM:616212
HP:0006610	Wide intermamillary distance	22858	CILK1	OMIM:612651
HP:0006610	Wide intermamillary distance	55690	PACS1	OMIM:615009
HP:0006610	Wide intermamillary distance	55690	PACS1	ORPHA:329224
HP:0006610	Wide intermamillary distance	4081	MAB21L1	OMIM:618479
HP:0006610	Wide intermamillary distance	10982	MAPRE2	OMIM:616734
HP:0006610	Wide intermamillary distance	1717	DHCR7	ORPHA:818
HP:0006610	Wide intermamillary distance	5818	NECTIN1	ORPHA:3253
HP:0006610	Wide intermamillary distance	55780	ERMARD	ORPHA:75857
HP:0006610	Wide intermamillary distance	8626	TP63	OMIM:103285
HP:0006610	Wide intermamillary distance	79158	GNPTAB	OMIM:252500
HP:0006610	Wide intermamillary distance	9382	COG1	OMIM:611209
HP:0006610	Wide intermamillary distance	3417	IDH1	ORPHA:99646
HP:0006610	Wide intermamillary distance	3190	HNRNPK	OMIM:616580
HP:0006610	Wide intermamillary distance	55870	ASH1L	OMIM:617796
HP:0006610	Wide intermamillary distance	7468	NSD2	OMIM:619695
HP:0006610	Wide intermamillary distance	9469	CHST3	OMIM:143095
HP:0006610	Wide intermamillary distance	23511	NUP188	OMIM:618804
HP:0006610	Wide intermamillary distance	1009	CDH11	OMIM:211380
HP:0006610	Wide intermamillary distance	2626	GATA4	ORPHA:251071
HP:0006610	Wide intermamillary distance	7020	TFAP2A	OMIM:113620
HP:0006610	Wide intermamillary distance	23116	TOGARAM1	OMIM:619185
HP:0006610	Wide intermamillary distance	7319	UBE2A	OMIM:300860
HP:0006610	Wide intermamillary distance	7319	UBE2A	ORPHA:163956
HP:0006610	Wide intermamillary distance	10087	CERT1	OMIM:616351
HP:0006610	Wide intermamillary distance	8726	EED	OMIM:617561
HP:0006610	Wide intermamillary distance	22884	WDR37	OMIM:618652
HP:0006610	Wide intermamillary distance	372	ARCN1	OMIM:617164
HP:0006610	Wide intermamillary distance	1954	MEGF8	OMIM:614976
HP:0006610	Wide intermamillary distance	2783	GNB2	OMIM:619503
HP:0006610	Wide intermamillary distance	3930	LBR	OMIM:618019
HP:0006610	Wide intermamillary distance	5826	ABCD4	OMIM:614857
HP:0006610	Wide intermamillary distance	4247	MGAT2	OMIM:212066
HP:0006610	Wide intermamillary distance	4763	NF1	ORPHA:97685
HP:0006610	Wide intermamillary distance	79718	TBL1XR1	ORPHA:487825
HP:0006610	Wide intermamillary distance	79718	TBL1XR1	OMIM:602342
HP:0006610	Wide intermamillary distance	2074	ERCC6	OMIM:214150
HP:0006610	Wide intermamillary distance	6611	SMS	ORPHA:3063
HP:0006610	Wide intermamillary distance	6611	SMS	OMIM:309583
HP:0006610	Wide intermamillary distance	22931	RAB18	OMIM:614222
HP:0006610	Wide intermamillary distance	92609	TIMM50	OMIM:617698
HP:0006610	Wide intermamillary distance	54499	TMCO1	OMIM:213980
HP:0006610	Wide intermamillary distance	5293	PIK3CD	ORPHA:221139
HP:0006610	Wide intermamillary distance	90417	KNSTRN	ORPHA:221139
HP:0006610	Wide intermamillary distance	8936	WASF1	OMIM:618707
HP:0006610	Wide intermamillary distance	6595	SMARCA2	ORPHA:3051
HP:0006610	Wide intermamillary distance	203068	TUBB	OMIM:156610
HP:0006610	Wide intermamillary distance	8567	MADD	OMIM:619004
HP:0006610	Wide intermamillary distance	91875	TTC5	OMIM:619244
HP:0006610	Wide intermamillary distance	5500	PPP1CB	OMIM:617506
HP:0006610	Wide intermamillary distance	9772	TMEM94	OMIM:618316
HP:0006610	Wide intermamillary distance	79971	WLS	OMIM:619648
HP:0006610	Wide intermamillary distance	388015	RTL1	ORPHA:96334
HP:0006610	Wide intermamillary distance	8788	DLK1	ORPHA:96334
HP:0006610	Wide intermamillary distance	55384	MEG3	ORPHA:96334
HP:0006610	Wide intermamillary distance	673	BRAF	OMIM:613707
HP:0006610	Wide intermamillary distance	673	BRAF	OMIM:163950
HP:0006610	Wide intermamillary distance	3911	LAMA5	OMIM:620076
HP:0006610	Wide intermamillary distance	139285	AMER1	OMIM:300373
HP:0006610	Wide intermamillary distance	1376	CPT2	OMIM:608836
HP:0006610	Wide intermamillary distance	84231	TRAF7	OMIM:618164
HP:0006610	Wide intermamillary distance	200205	IBA57	OMIM:615330
HP:0006610	Wide intermamillary distance	7994	KAT6A	OMIM:616268
HP:0006610	Wide intermamillary distance	284058	KANSL1	OMIM:610443
HP:0006610	Wide intermamillary distance	22800	RRAS2	ORPHA:648
HP:0006610	Wide intermamillary distance	867	CBL	ORPHA:648
HP:0006610	Wide intermamillary distance	867	CBL	OMIM:613563
HP:0006610	Wide intermamillary distance	8216	LZTR1	ORPHA:648
HP:0006610	Wide intermamillary distance	8216	LZTR1	OMIM:605275
HP:0006610	Wide intermamillary distance	6016	RIT1	ORPHA:648
HP:0006610	Wide intermamillary distance	6237	RRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	5894	RAF1	ORPHA:648
HP:0006610	Wide intermamillary distance	22808	MRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	3845	KRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	200734	SPRED2	ORPHA:648
HP:0006610	Wide intermamillary distance	4893	NRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	6654	SOS1	ORPHA:648
HP:0006610	Wide intermamillary distance	6654	SOS1	OMIM:610733
HP:0006610	Wide intermamillary distance	6655	SOS2	ORPHA:648
HP:0006610	Wide intermamillary distance	5781	PTPN11	ORPHA:648
HP:0006610	Wide intermamillary distance	5781	PTPN11	OMIM:163950
HP:0006610	Wide intermamillary distance	5922	RASA2	ORPHA:648
HP:0006610	Wide intermamillary distance	171023	ASXL1	OMIM:605039
HP:0006610	Wide intermamillary distance	8621	CDK13	OMIM:617360
HP:0006610	Wide intermamillary distance	54101	RIPK4	OMIM:263650
HP:0006610	Wide intermamillary distance	9181	ARHGEF2	OMIM:617523
HP:0006610	Wide intermamillary distance	29968	PSAT1	OMIM:616038
HP:0006610	Wide intermamillary distance	6736	SRY	ORPHA:1772
HP:0006610	Wide intermamillary distance	27152	INTU	OMIM:617925
HP:0006610	Wide intermamillary distance	2719	GPC3	OMIM:312870
HP:0006610	Wide intermamillary distance	2239	GPC4	OMIM:312870
HP:0006610	Wide intermamillary distance	55770	EXOC2	OMIM:619306
HP:0006610	Wide intermamillary distance	5604	MAP2K1	OMIM:163950
HP:0000767	Pectus excavatum	875	CBS	ORPHA:394
HP:0000767	Pectus excavatum	875	CBS	OMIM:236200
HP:0000767	Pectus excavatum	2218	FKTN	ORPHA:272
HP:0000767	Pectus excavatum	2218	FKTN	OMIM:611588
HP:0000767	Pectus excavatum	6910	TBX5	ORPHA:392
HP:0000767	Pectus excavatum	6910	TBX5	OMIM:142900
HP:0000767	Pectus excavatum	8216	LZTR1	OMIM:616564
HP:0000767	Pectus excavatum	8216	LZTR1	ORPHA:648
HP:0000767	Pectus excavatum	8216	LZTR1	OMIM:605275
HP:0000767	Pectus excavatum	83932	SPRTN	OMIM:616200
HP:0000767	Pectus excavatum	23135	KDM6B	OMIM:618505
HP:0000767	Pectus excavatum	1947	EFNB1	ORPHA:1520
HP:0000767	Pectus excavatum	1947	EFNB1	OMIM:304110
HP:0000767	Pectus excavatum	4010	LMX1B	ORPHA:2614
HP:0000767	Pectus excavatum	4010	LMX1B	OMIM:161200
HP:0000767	Pectus excavatum	4204	MECP2	ORPHA:1762
HP:0000767	Pectus excavatum	22800	RRAS2	OMIM:618624
HP:0000767	Pectus excavatum	22800	RRAS2	ORPHA:648
HP:0000767	Pectus excavatum	538	ATP7A	OMIM:304150
HP:0000767	Pectus excavatum	538	ATP7A	ORPHA:565
HP:0000767	Pectus excavatum	538	ATP7A	ORPHA:198
HP:0000767	Pectus excavatum	1131	CHRM3	ORPHA:2970
HP:0000767	Pectus excavatum	1131	CHRM3	OMIM:100100
HP:0000767	Pectus excavatum	4125	MAN2B1	ORPHA:309282
HP:0000767	Pectus excavatum	9578	CDC42BPB	OMIM:619841
HP:0000767	Pectus excavatum	55790	CSGALNACT1	OMIM:618870
HP:0000767	Pectus excavatum	1723	DHODH	OMIM:263750
HP:0000767	Pectus excavatum	2782	GNB1	ORPHA:488613
HP:0000767	Pectus excavatum	2782	GNB1	OMIM:616973
HP:0000767	Pectus excavatum	2137	EXTL3	OMIM:617425
HP:0000767	Pectus excavatum	65082	VPS33A	OMIM:617303
HP:0000767	Pectus excavatum	84466	MEGF10	OMIM:614399
HP:0000767	Pectus excavatum	23384	SPECC1L	ORPHA:1519
HP:0000767	Pectus excavatum	79158	GNPTAB	OMIM:252500
HP:0000767	Pectus excavatum	57539	WDR35	ORPHA:1515
HP:0000767	Pectus excavatum	57539	WDR35	OMIM:613610
HP:0000767	Pectus excavatum	112752	IFT43	ORPHA:1515
HP:0000767	Pectus excavatum	51098	IFT52	ORPHA:1515
HP:0000767	Pectus excavatum	55764	IFT122	ORPHA:1515
HP:0000767	Pectus excavatum	55764	IFT122	OMIM:218330
HP:0000767	Pectus excavatum	57728	WDR19	ORPHA:1515
HP:0000767	Pectus excavatum	57728	WDR19	OMIM:614378
HP:0000767	Pectus excavatum	4148	MATN3	ORPHA:156728
HP:0000767	Pectus excavatum	4148	MATN3	OMIM:608728
HP:0000767	Pectus excavatum	3190	HNRNPK	OMIM:616580
HP:0000767	Pectus excavatum	284058	KANSL1	ORPHA:363958
HP:0000767	Pectus excavatum	284058	KANSL1	OMIM:610443
HP:0000767	Pectus excavatum	284058	KANSL1	ORPHA:363965
HP:0000767	Pectus excavatum	55154	MSTO1	OMIM:617675
HP:0000767	Pectus excavatum	55154	MSTO1	ORPHA:502423
HP:0000767	Pectus excavatum	54453	RIN2	OMIM:613075
HP:0000767	Pectus excavatum	23545	ATP6V0A2	ORPHA:2834
HP:0000767	Pectus excavatum	23545	ATP6V0A2	OMIM:278250
HP:0000767	Pectus excavatum	64359	NXN	ORPHA:1507
HP:0000767	Pectus excavatum	4920	ROR2	ORPHA:1507
HP:0000767	Pectus excavatum	4920	ROR2	OMIM:268310
HP:0000767	Pectus excavatum	1281	COL3A1	ORPHA:286
HP:0000767	Pectus excavatum	1281	COL3A1	OMIM:130050
HP:0000767	Pectus excavatum	171023	ASXL1	ORPHA:97297
HP:0000767	Pectus excavatum	4297	KMT2A	ORPHA:319182
HP:0000767	Pectus excavatum	57178	ZMIZ1	OMIM:618659
HP:0000767	Pectus excavatum	8036	SHOC2	ORPHA:2701
HP:0000767	Pectus excavatum	5500	PPP1CB	ORPHA:2701
HP:0000767	Pectus excavatum	5500	PPP1CB	OMIM:617506
HP:0000767	Pectus excavatum	93627	TBCK	ORPHA:488632
HP:0000767	Pectus excavatum	200734	SPRED2	OMIM:619745
HP:0000767	Pectus excavatum	200734	SPRED2	ORPHA:648
HP:0000767	Pectus excavatum	4247	MGAT2	OMIM:212066
HP:0000767	Pectus excavatum	4247	MGAT2	ORPHA:79329
HP:0000767	Pectus excavatum	4053	LTBP2	OMIM:251750
HP:0000767	Pectus excavatum	3476	IGBP1	ORPHA:52055
HP:0000767	Pectus excavatum	3476	IGBP1	OMIM:300472
HP:0000767	Pectus excavatum	8241	RBM10	OMIM:311900
HP:0000767	Pectus excavatum	8241	RBM10	ORPHA:2886
HP:0000767	Pectus excavatum	3981	LIG4	ORPHA:235
HP:0000767	Pectus excavatum	54888	NSUN2	ORPHA:235
HP:0000767	Pectus excavatum	5518	PPP2R1A	OMIM:616362
HP:0000767	Pectus excavatum	5518	PPP2R1A	ORPHA:457284
HP:0000767	Pectus excavatum	8260	NAA10	OMIM:309800
HP:0000767	Pectus excavatum	8260	NAA10	OMIM:300855
HP:0000767	Pectus excavatum	54880	BCOR	OMIM:309800
HP:0000767	Pectus excavatum	63895	PIEZO2	OMIM:114300
HP:0000767	Pectus excavatum	63895	PIEZO2	ORPHA:376
HP:0000767	Pectus excavatum	63895	PIEZO2	OMIM:108145
HP:0000767	Pectus excavatum	63895	PIEZO2	ORPHA:1154
HP:0000767	Pectus excavatum	63895	PIEZO2	ORPHA:2461
HP:0000767	Pectus excavatum	51604	PIGT	OMIM:615398
HP:0000767	Pectus excavatum	51604	PIGT	ORPHA:369837
HP:0000767	Pectus excavatum	84665	MYPN	OMIM:617336
HP:0000767	Pectus excavatum	84665	MYPN	ORPHA:171881
HP:0000767	Pectus excavatum	9091	PIGQ	OMIM:618548
HP:0000767	Pectus excavatum	5728	PTEN	ORPHA:109
HP:0000767	Pectus excavatum	5728	PTEN	ORPHA:201
HP:0000767	Pectus excavatum	5728	PTEN	OMIM:158350
HP:0000767	Pectus excavatum	1859	DYRK1A	ORPHA:464311
HP:0000767	Pectus excavatum	1859	DYRK1A	ORPHA:268261
HP:0000767	Pectus excavatum	1859	DYRK1A	OMIM:614104
HP:0000767	Pectus excavatum	5605	MAP2K2	OMIM:615280
HP:0000767	Pectus excavatum	5605	MAP2K2	ORPHA:1340
HP:0000767	Pectus excavatum	26137	ZBTB20	OMIM:259050
HP:0000767	Pectus excavatum	26137	ZBTB20	ORPHA:3042
HP:0000767	Pectus excavatum	2542	SLC37A4	OMIM:619525
HP:0000767	Pectus excavatum	9772	TMEM94	OMIM:618316
HP:0000767	Pectus excavatum	2316	FLNA	OMIM:304120
HP:0000767	Pectus excavatum	2316	FLNA	ORPHA:555877
HP:0000767	Pectus excavatum	2316	FLNA	OMIM:309350
HP:0000767	Pectus excavatum	2316	FLNA	OMIM:311300
HP:0000767	Pectus excavatum	23299	BICD2	OMIM:615290
HP:0000767	Pectus excavatum	2239	GPC4	ORPHA:373
HP:0000767	Pectus excavatum	2239	GPC4	OMIM:312870
HP:0000767	Pectus excavatum	2719	GPC3	ORPHA:373
HP:0000767	Pectus excavatum	2719	GPC3	OMIM:312870
HP:0000767	Pectus excavatum	23483	TGDS	OMIM:616145
HP:0000767	Pectus excavatum	23483	TGDS	ORPHA:1388
HP:0000767	Pectus excavatum	57479	PRR12	OMIM:619539
HP:0000767	Pectus excavatum	2260	FGFR1	OMIM:166250
HP:0000767	Pectus excavatum	7994	KAT6A	OMIM:616268
HP:0000767	Pectus excavatum	4883	NPR3	OMIM:619543
HP:0000767	Pectus excavatum	10533	ATG7	OMIM:619422
HP:0000767	Pectus excavatum	26173	INTS1	OMIM:618571
HP:0000767	Pectus excavatum	1523	CUX1	OMIM:618330
HP:0000767	Pectus excavatum	164	AP1G1	OMIM:619548
HP:0000767	Pectus excavatum	3480	IGF1R	ORPHA:73273
HP:0000767	Pectus excavatum	3480	IGF1R	OMIM:270450
HP:0000767	Pectus excavatum	4088	SMAD3	ORPHA:284984
HP:0000767	Pectus excavatum	4921	DDR2	OMIM:271665
HP:0000767	Pectus excavatum	22827	PUF60	ORPHA:508498
HP:0000767	Pectus excavatum	22827	PUF60	ORPHA:508488
HP:0000767	Pectus excavatum	8076	MFAP5	OMIM:616166
HP:0000767	Pectus excavatum	79912	PYROXD1	OMIM:617258
HP:0000767	Pectus excavatum	6885	MAP3K7	OMIM:617137
HP:0000767	Pectus excavatum	57122	NUP107	OMIM:618348
HP:0000767	Pectus excavatum	128869	PIGU	OMIM:618590
HP:0000767	Pectus excavatum	6567	SLC16A2	OMIM:300523
HP:0000767	Pectus excavatum	6567	SLC16A2	ORPHA:59
HP:0000767	Pectus excavatum	9871	SEC24D	OMIM:616294
HP:0000767	Pectus excavatum	29998	BICRA	OMIM:619325
HP:0000767	Pectus excavatum	388015	RTL1	ORPHA:254528
HP:0000767	Pectus excavatum	388015	RTL1	ORPHA:96334
HP:0000767	Pectus excavatum	8788	DLK1	ORPHA:254528
HP:0000767	Pectus excavatum	8788	DLK1	ORPHA:96334
HP:0000767	Pectus excavatum	55384	MEG3	ORPHA:254528
HP:0000767	Pectus excavatum	55384	MEG3	ORPHA:96334
HP:0000767	Pectus excavatum	1289	COL5A1	OMIM:619329
HP:0000767	Pectus excavatum	1289	COL5A1	OMIM:130000
HP:0000767	Pectus excavatum	51114	ZDHHC9	ORPHA:776
HP:0000767	Pectus excavatum	65109	UPF3B	ORPHA:776
HP:0000767	Pectus excavatum	65109	UPF3B	OMIM:300676
HP:0000767	Pectus excavatum	9968	MED12	ORPHA:776
HP:0000767	Pectus excavatum	9968	MED12	OMIM:309520
HP:0000767	Pectus excavatum	56975	FAM20C	OMIM:259775
HP:0000767	Pectus excavatum	6904	TBCD	ORPHA:496641
HP:0000767	Pectus excavatum	4784	NFIX	OMIM:602535
HP:0000767	Pectus excavatum	4784	NFIX	ORPHA:420179
HP:0000767	Pectus excavatum	4784	NFIX	OMIM:614753
HP:0000767	Pectus excavatum	3549	IHH	ORPHA:63446
HP:0000767	Pectus excavatum	3549	IHH	OMIM:607778
HP:0000767	Pectus excavatum	51434	ANAPC7	OMIM:619699
HP:0000767	Pectus excavatum	4052	LTBP1	OMIM:619451
HP:0000767	Pectus excavatum	92255	LMBRD2	OMIM:619694
HP:0000767	Pectus excavatum	7170	TPM3	OMIM:609284
HP:0000767	Pectus excavatum	7170	TPM3	ORPHA:171881
HP:0000767	Pectus excavatum	7170	TPM3	ORPHA:2020
HP:0000767	Pectus excavatum	5831	PYCR1	OMIM:612940
HP:0000767	Pectus excavatum	9820	CUL7	OMIM:273750
HP:0000767	Pectus excavatum	2010	EMD	OMIM:310300
HP:0000767	Pectus excavatum	2010	EMD	ORPHA:98863
HP:0000767	Pectus excavatum	5351	PLOD1	ORPHA:1900
HP:0000767	Pectus excavatum	1009	CDH11	OMIM:211380
HP:0000767	Pectus excavatum	1009	CDH11	ORPHA:1299
HP:0000767	Pectus excavatum	444	ASPH	OMIM:601552
HP:0000767	Pectus excavatum	10483	SEC23B	ORPHA:201
HP:0000767	Pectus excavatum	6390	SDHB	ORPHA:201
HP:0000767	Pectus excavatum	6392	SDHD	ORPHA:201
HP:0000767	Pectus excavatum	6391	SDHC	ORPHA:201
HP:0000767	Pectus excavatum	207	AKT1	ORPHA:201
HP:0000767	Pectus excavatum	207	AKT1	OMIM:615109
HP:0000767	Pectus excavatum	205717	USF3	ORPHA:201
HP:0000767	Pectus excavatum	5290	PIK3CA	ORPHA:201
HP:0000767	Pectus excavatum	5290	PIK3CA	OMIM:615108
HP:0000767	Pectus excavatum	100144748	KLLN	ORPHA:201
HP:0000767	Pectus excavatum	7703	PCGF2	OMIM:618371
HP:0000767	Pectus excavatum	1280	COL2A1	OMIM:156550
HP:0000767	Pectus excavatum	1280	COL2A1	ORPHA:166100
HP:0000767	Pectus excavatum	1280	COL2A1	OMIM:108300
HP:0000767	Pectus excavatum	22808	MRAS	OMIM:618499
HP:0000767	Pectus excavatum	22808	MRAS	ORPHA:648
HP:0000767	Pectus excavatum	4015	LOX	OMIM:617168
HP:0000767	Pectus excavatum	2332	FMR1	OMIM:300624
HP:0000767	Pectus excavatum	51729	WBP11	OMIM:619227
HP:0000767	Pectus excavatum	1302	COL11A2	ORPHA:166100
HP:0000767	Pectus excavatum	6611	SMS	ORPHA:3063
HP:0000767	Pectus excavatum	6611	SMS	OMIM:309583
HP:0000767	Pectus excavatum	57003	CCDC47	OMIM:618268
HP:0000767	Pectus excavatum	5977	DPF2	OMIM:618027
HP:0000767	Pectus excavatum	10526	IPO8	OMIM:619472
HP:0000767	Pectus excavatum	10526	IPO8	ORPHA:60030
HP:0000767	Pectus excavatum	1278	COL1A2	OMIM:225320
HP:0000767	Pectus excavatum	1278	COL1A2	ORPHA:230851
HP:0000767	Pectus excavatum	145173	B3GLCT	OMIM:261540
HP:0000767	Pectus excavatum	1387	CREBBP	OMIM:180849
HP:0000767	Pectus excavatum	2033	EP300	OMIM:180849
HP:0000767	Pectus excavatum	80036	TRPM3	OMIM:620224
HP:0000767	Pectus excavatum	3248	HPGD	OMIM:259100
HP:0000767	Pectus excavatum	5894	RAF1	ORPHA:500
HP:0000767	Pectus excavatum	5894	RAF1	ORPHA:648
HP:0000767	Pectus excavatum	25839	COG4	OMIM:618150
HP:0000767	Pectus excavatum	23405	DICER1	OMIM:618272
HP:0000767	Pectus excavatum	113189	CHST14	OMIM:601776
HP:0000767	Pectus excavatum	7204	TRIO	OMIM:617061
HP:0000767	Pectus excavatum	7204	TRIO	ORPHA:476126
HP:0000767	Pectus excavatum	2077	ERF	OMIM:617180
HP:0000767	Pectus excavatum	9325	TRIP4	OMIM:617066
HP:0000767	Pectus excavatum	9325	TRIP4	ORPHA:486815
HP:0000767	Pectus excavatum	203068	TUBB	OMIM:156610
HP:0000767	Pectus excavatum	6872	TAF1	OMIM:300966
HP:0000767	Pectus excavatum	285590	SH3PXD2B	OMIM:249420
HP:0000767	Pectus excavatum	374354	NHLRC2	OMIM:618278
HP:0000767	Pectus excavatum	10651	MTX2	OMIM:619127
HP:0000767	Pectus excavatum	10220	GDF11	OMIM:619122
HP:0000767	Pectus excavatum	4617	MYF5	OMIM:618155
HP:0000767	Pectus excavatum	55717	WDR11	OMIM:620237
HP:0000767	Pectus excavatum	93587	TRMT10A	ORPHA:391408
HP:0000767	Pectus excavatum	84919	PPP1R15B	ORPHA:391408
HP:0000767	Pectus excavatum	84919	PPP1R15B	OMIM:616817
HP:0000767	Pectus excavatum	23387	SIK3	OMIM:618162
HP:0000767	Pectus excavatum	10084	PQBP1	OMIM:309500
HP:0000767	Pectus excavatum	50515	CHST11	OMIM:618167
HP:0000767	Pectus excavatum	2629	GBA1	ORPHA:2072
HP:0000767	Pectus excavatum	11014	KDELR2	OMIM:619131
HP:0000767	Pectus excavatum	10479	SLC9A6	ORPHA:85278
HP:0000767	Pectus excavatum	9487	PIGL	OMIM:280000
HP:0000767	Pectus excavatum	9487	PIGL	ORPHA:247262
HP:0000767	Pectus excavatum	10491	CRTAP	OMIM:610682
HP:0000767	Pectus excavatum	3295	HSD17B4	OMIM:261515
HP:0000767	Pectus excavatum	867	CBL	ORPHA:648
HP:0000767	Pectus excavatum	867	CBL	OMIM:613563
HP:0000767	Pectus excavatum	6016	RIT1	ORPHA:648
HP:0000767	Pectus excavatum	6237	RRAS	ORPHA:648
HP:0000767	Pectus excavatum	3845	KRAS	ORPHA:648
HP:0000767	Pectus excavatum	3845	KRAS	ORPHA:1340
HP:0000767	Pectus excavatum	3845	KRAS	OMIM:609942
HP:0000767	Pectus excavatum	4893	NRAS	ORPHA:648
HP:0000767	Pectus excavatum	4893	NRAS	OMIM:613224
HP:0000767	Pectus excavatum	6655	SOS2	ORPHA:648
HP:0000767	Pectus excavatum	5922	RASA2	ORPHA:648
HP:0000767	Pectus excavatum	5479	PPIB	OMIM:259440
HP:0000767	Pectus excavatum	7474	WNT5A	OMIM:180700
HP:0000767	Pectus excavatum	7474	WNT5A	ORPHA:3107
HP:0000767	Pectus excavatum	1855	DVL1	OMIM:180700
HP:0000767	Pectus excavatum	1855	DVL1	ORPHA:3107
HP:0000767	Pectus excavatum	5727	PTCH1	ORPHA:77301
HP:0000767	Pectus excavatum	374654	KIF7	ORPHA:166024
HP:0000767	Pectus excavatum	374654	KIF7	OMIM:607131
HP:0000767	Pectus excavatum	128674	PROKR2	OMIM:244200
HP:0000767	Pectus excavatum	161742	SPRED1	OMIM:611431
HP:0000767	Pectus excavatum	9839	ZEB2	OMIM:235730
HP:0000767	Pectus excavatum	9839	ZEB2	ORPHA:261552
HP:0000767	Pectus excavatum	9839	ZEB2	ORPHA:261537
HP:0000767	Pectus excavatum	64324	NSD1	ORPHA:821
HP:0000767	Pectus excavatum	29072	SETD2	ORPHA:821
HP:0000767	Pectus excavatum	10297	APC2	ORPHA:821
HP:0000767	Pectus excavatum	58	ACTA1	ORPHA:171436
HP:0000767	Pectus excavatum	58	ACTA1	ORPHA:2020
HP:0000767	Pectus excavatum	7169	TPM2	ORPHA:171436
HP:0000767	Pectus excavatum	7169	TPM2	ORPHA:171881
HP:0000767	Pectus excavatum	7169	TPM2	ORPHA:2020
HP:0000767	Pectus excavatum	4703	NEB	ORPHA:171436
HP:0000767	Pectus excavatum	10324	KLHL41	ORPHA:171436
HP:0000767	Pectus excavatum	56203	LMOD3	ORPHA:171436
HP:0000767	Pectus excavatum	1073	CFL2	ORPHA:171436
HP:0000767	Pectus excavatum	2261	FGFR3	OMIM:610474
HP:0000767	Pectus excavatum	25782	RAB3GAP2	OMIM:212720
HP:0000767	Pectus excavatum	4233	MET	OMIM:607278
HP:0000767	Pectus excavatum	6197	RPS6KA3	OMIM:303600
HP:0000767	Pectus excavatum	6197	RPS6KA3	ORPHA:276630
HP:0000767	Pectus excavatum	6197	RPS6KA3	ORPHA:192
HP:0000767	Pectus excavatum	84992	PIGY	ORPHA:247262
HP:0000767	Pectus excavatum	84720	PIGO	ORPHA:247262
HP:0000767	Pectus excavatum	93210	PGAP3	ORPHA:247262
HP:0000767	Pectus excavatum	284098	PIGW	ORPHA:247262
HP:0000767	Pectus excavatum	27315	PGAP2	ORPHA:247262
HP:0000767	Pectus excavatum	55650	PIGV	ORPHA:247262
HP:0000767	Pectus excavatum	57190	SELENON	ORPHA:2020
HP:0000767	Pectus excavatum	4633	MYL2	ORPHA:2020
HP:0000767	Pectus excavatum	3679	ITGA7	ORPHA:2020
HP:0000767	Pectus excavatum	9200	HACD1	ORPHA:2020
HP:0000767	Pectus excavatum	51776	MAP3K20	ORPHA:2020
HP:0000767	Pectus excavatum	6663	SOX10	OMIM:611584
HP:0000767	Pectus excavatum	1954	MEGF8	OMIM:614976
HP:0000767	Pectus excavatum	2200	FBN1	OMIM:616914
HP:0000767	Pectus excavatum	2200	FBN1	ORPHA:2462
HP:0000767	Pectus excavatum	2200	FBN1	OMIM:154700
HP:0000767	Pectus excavatum	165	AEBP1	ORPHA:536532
HP:0000767	Pectus excavatum	9653	HS2ST1	OMIM:619194
HP:0000767	Pectus excavatum	1857	DVL3	ORPHA:3107
HP:0000767	Pectus excavatum	2535	FZD2	ORPHA:3107
HP:0000767	Pectus excavatum	60	ACTB	ORPHA:64755
HP:0000767	Pectus excavatum	6804	STX1A	ORPHA:904
HP:0000767	Pectus excavatum	7461	CLIP2	ORPHA:904
HP:0000767	Pectus excavatum	84277	DNAJC30	ORPHA:904
HP:0000767	Pectus excavatum	8468	FKBP6	ORPHA:904
HP:0000767	Pectus excavatum	5982	RFC2	ORPHA:904
HP:0000767	Pectus excavatum	2969	GTF2I	ORPHA:904
HP:0000767	Pectus excavatum	3984	LIMK1	ORPHA:904
HP:0000767	Pectus excavatum	9569	GTF2IRD1	ORPHA:904
HP:0000767	Pectus excavatum	155382	VPS37D	ORPHA:904
HP:0000767	Pectus excavatum	155368	METTL27	ORPHA:904
HP:0000767	Pectus excavatum	114049	BUD23	ORPHA:904
HP:0000767	Pectus excavatum	7458	EIF4H	ORPHA:904
HP:0000767	Pectus excavatum	84163	GTF2IRD2	ORPHA:904
HP:0000767	Pectus excavatum	9275	BCL7B	ORPHA:904
HP:0000767	Pectus excavatum	26608	TBL2	ORPHA:904
HP:0000767	Pectus excavatum	653361	NCF1	ORPHA:904
HP:0000767	Pectus excavatum	135886	TMEM270	ORPHA:904
HP:0000767	Pectus excavatum	51085	MLXIPL	ORPHA:904
HP:0000767	Pectus excavatum	51085	MLXIPL	OMIM:194050
HP:0000767	Pectus excavatum	9031	BAZ1B	ORPHA:904
HP:0000767	Pectus excavatum	2006	ELN	ORPHA:904
HP:0000767	Pectus excavatum	2006	ELN	OMIM:194050
HP:0000767	Pectus excavatum	10056	FARSB	OMIM:613658
HP:0000767	Pectus excavatum	9289	ADGRG1	ORPHA:98889
HP:0000767	Pectus excavatum	5297	PI4KA	ORPHA:98889
HP:0000767	Pectus excavatum	27286	SRPX2	ORPHA:98889
HP:0000767	Pectus excavatum	54499	TMCO1	OMIM:213980
HP:0000767	Pectus excavatum	9719	ADAMTSL2	OMIM:231050
HP:0000767	Pectus excavatum	1303	COL12A1	ORPHA:536516
HP:0000767	Pectus excavatum	8050	PDHX	OMIM:245349
HP:0000767	Pectus excavatum	5832	ALDH18A1	OMIM:219150
HP:0000767	Pectus excavatum	4677	NARS1	OMIM:619092
HP:0000767	Pectus excavatum	8242	KDM5C	OMIM:300534
HP:0000767	Pectus excavatum	81031	SLC2A10	OMIM:208050
HP:0000767	Pectus excavatum	7048	TGFBR2	OMIM:610168
HP:0000767	Pectus excavatum	7048	TGFBR2	ORPHA:60030
HP:0000767	Pectus excavatum	147372	CCBE1	OMIM:235510
HP:0000767	Pectus excavatum	2273	FHL1	ORPHA:98863
HP:0000767	Pectus excavatum	3339	HSPG2	ORPHA:800
HP:0000767	Pectus excavatum	2317	FLNB	OMIM:150250
HP:0000767	Pectus excavatum	2702	GJA5	OMIM:612474
HP:0000767	Pectus excavatum	2703	GJA8	OMIM:612474
HP:0000767	Pectus excavatum	7046	TGFBR1	ORPHA:60030
HP:0000767	Pectus excavatum	84667	HES7	OMIM:613686
HP:0000767	Pectus excavatum	55690	PACS1	ORPHA:329224
HP:0000767	Pectus excavatum	2245	FGD1	ORPHA:915
HP:0000767	Pectus excavatum	2245	FGD1	OMIM:305400
HP:0000767	Pectus excavatum	6497	SKI	ORPHA:2462
HP:0000767	Pectus excavatum	6497	SKI	OMIM:182212
HP:0000767	Pectus excavatum	9894	TELO2	OMIM:616954
HP:0000767	Pectus excavatum	196528	ARID2	OMIM:617808
HP:0000767	Pectus excavatum	4000	LMNA	ORPHA:98855
HP:0000767	Pectus excavatum	4000	LMNA	ORPHA:98853
HP:0000767	Pectus excavatum	4038	LRP4	OMIM:212780
HP:0000767	Pectus excavatum	26123	TCTN3	OMIM:258860
HP:0000767	Pectus excavatum	79188	TMEM43	ORPHA:98853
HP:0000767	Pectus excavatum	23345	SYNE1	ORPHA:98853
HP:0000767	Pectus excavatum	23224	SYNE2	ORPHA:98853
HP:0000767	Pectus excavatum	10075	HUWE1	OMIM:309590
HP:0000767	Pectus excavatum	5979	RET	OMIM:162300
HP:0000767	Pectus excavatum	9780	PIEZO1	OMIM:616843
HP:0000767	Pectus excavatum	23394	ADNP	OMIM:615873
HP:0000767	Pectus excavatum	91179	SCARF2	OMIM:600920
HP:0000767	Pectus excavatum	4854	NOTCH3	OMIM:130720
HP:0000767	Pectus excavatum	4854	NOTCH3	ORPHA:2789
HP:0000767	Pectus excavatum	30008	EFEMP2	OMIM:614437
HP:0000767	Pectus excavatum	10982	MAPRE2	OMIM:616734
HP:0000767	Pectus excavatum	63035	BCORL1	OMIM:301029
HP:0000767	Pectus excavatum	10265	IRX5	OMIM:611174
HP:0000767	Pectus excavatum	64131	XYLT1	OMIM:615777
HP:0000767	Pectus excavatum	9241	NOG	OMIM:186500
HP:0000767	Pectus excavatum	79576	NKAP	OMIM:301039
HP:0000767	Pectus excavatum	25	ABL1	OMIM:617602
HP:0000767	Pectus excavatum	55969	RAB5IF	OMIM:616994
HP:0000767	Pectus excavatum	55644	OSGEP	OMIM:617729
HP:0000767	Pectus excavatum	760	CA2	ORPHA:2785
HP:0000767	Pectus excavatum	23476	BRD4	ORPHA:199
HP:0000767	Pectus excavatum	9126	SMC3	ORPHA:199
HP:0000767	Pectus excavatum	8243	SMC1A	ORPHA:199
HP:0000767	Pectus excavatum	25836	NIPBL	ORPHA:199
HP:0000767	Pectus excavatum	55869	HDAC8	ORPHA:199
HP:0000767	Pectus excavatum	5885	RAD21	ORPHA:199
HP:0000767	Pectus excavatum	157680	VPS13B	ORPHA:193
HP:0000767	Pectus excavatum	490	ATP2B1	OMIM:619910
HP:0000767	Pectus excavatum	51360	MBTPS2	OMIM:301014
HP:0000767	Pectus excavatum	83737	ITCH	OMIM:613385
HP:0000767	Pectus excavatum	139285	AMER1	OMIM:300373
HP:0000767	Pectus excavatum	4094	MAF	OMIM:601088
HP:0000767	Pectus excavatum	126792	B3GALT6	ORPHA:536467
HP:0000767	Pectus excavatum	126792	B3GALT6	OMIM:615349
HP:0000767	Pectus excavatum	650	BMP2	OMIM:617877
HP:0000767	Pectus excavatum	5430	POLR2A	OMIM:618603
HP:0000767	Pectus excavatum	4621	MYH3	ORPHA:2990
HP:0000767	Pectus excavatum	1146	CHRNG	ORPHA:2990
HP:0000767	Pectus excavatum	10225	CD96	ORPHA:1308
HP:0000767	Pectus excavatum	79583	TMEM231	ORPHA:2752
HP:0000767	Pectus excavatum	10516	FBLN5	OMIM:219100
HP:0000767	Pectus excavatum	7043	TGFB3	OMIM:615582
HP:0000767	Pectus excavatum	79875	THSD4	OMIM:619825
HP:0000767	Pectus excavatum	3636	INPPL1	ORPHA:2746
HP:0000767	Pectus excavatum	6736	SRY	ORPHA:1772
HP:0000767	Pectus excavatum	25871	NEPRO	OMIM:618853
HP:0000767	Pectus excavatum	4654	MYOD1	OMIM:618975
HP:0000767	Pectus excavatum	4763	NF1	OMIM:601321
HP:0000767	Pectus excavatum	6654	SOS1	OMIM:610733
HP:0000767	Pectus excavatum	5604	MAP2K1	OMIM:163950
HP:0000767	Pectus excavatum	5781	PTPN11	OMIM:163950
HP:0000767	Pectus excavatum	673	BRAF	OMIM:163950
HP:0006657	Hypoplasia of first ribs	4010	LMX1B	OMIM:161200
HP:0006657	Hypoplasia of first ribs	10262	SF3B4	OMIM:154400
HP:0006657	Hypoplasia of first ribs	26040	SETBP1	OMIM:269150
HP:0006615	Absent in utero rib ossification	168667	BMPER	OMIM:608022
HP:0000772	Abnormal rib morphology	6910	TBX5	ORPHA:392
HP:0000772	Abnormal rib morphology	9871	SEC24D	ORPHA:2050
HP:0000772	Abnormal rib morphology	5034	P4HB	ORPHA:2050
HP:0000772	Abnormal rib morphology	2733	GLE1	ORPHA:1486
HP:0000772	Abnormal rib morphology	1131	CHRM3	ORPHA:2970
HP:0000772	Abnormal rib morphology	7473	WNT3	ORPHA:3301
HP:0000772	Abnormal rib morphology	340419	RSPO2	ORPHA:3301
HP:0000772	Abnormal rib morphology	10312	TCIRG1	ORPHA:667
HP:0000772	Abnormal rib morphology	1186	CLCN7	ORPHA:667
HP:0000772	Abnormal rib morphology	29887	SNX10	ORPHA:667
HP:0000772	Abnormal rib morphology	8600	TNFSF11	ORPHA:667
HP:0000772	Abnormal rib morphology	5447	POR	ORPHA:95699
HP:0000772	Abnormal rib morphology	1717	DHCR7	ORPHA:818
HP:0000772	Abnormal rib morphology	55636	CHD7	ORPHA:138
HP:0000772	Abnormal rib morphology	55636	CHD7	OMIM:214800
HP:0000772	Abnormal rib morphology	9723	SEMA3E	ORPHA:138
HP:0000772	Abnormal rib morphology	4952	OCRL	ORPHA:534
HP:0000772	Abnormal rib morphology	4038	LRP4	ORPHA:3258
HP:0000772	Abnormal rib morphology	324	APC	ORPHA:3258
HP:0000772	Abnormal rib morphology	50964	SOST	ORPHA:1513
HP:0000772	Abnormal rib morphology	4041	LRP5	ORPHA:2790
HP:0000772	Abnormal rib morphology	6023	RMRP	ORPHA:175
HP:0000772	Abnormal rib morphology	134701	RIPPLY2	ORPHA:2311
HP:0000772	Abnormal rib morphology	10683	DLL3	ORPHA:2311
HP:0000772	Abnormal rib morphology	3955	LFNG	ORPHA:2311
HP:0000772	Abnormal rib morphology	84667	HES7	ORPHA:2311
HP:0000772	Abnormal rib morphology	145873	MESP2	ORPHA:2311
HP:0000772	Abnormal rib morphology	157570	ESCO2	ORPHA:2319
HP:0000772	Abnormal rib morphology	81620	CDT1	ORPHA:2554
HP:0000772	Abnormal rib morphology	5000	ORC4	ORPHA:2554
HP:0000772	Abnormal rib morphology	23594	ORC6	ORPHA:2554
HP:0000772	Abnormal rib morphology	8318	CDC45	ORPHA:2554
HP:0000772	Abnormal rib morphology	990	CDC6	ORPHA:2554
HP:0000772	Abnormal rib morphology	4998	ORC1	ORPHA:2554
HP:0000772	Abnormal rib morphology	51053	GMNN	ORPHA:2554
HP:0000772	Abnormal rib morphology	1301	COL11A1	ORPHA:2021
HP:0000772	Abnormal rib morphology	1302	COL11A2	ORPHA:2021
HP:0000772	Abnormal rib morphology	2316	FLNA	ORPHA:90652
HP:0000772	Abnormal rib morphology	2316	FLNA	ORPHA:2484
HP:0000772	Abnormal rib morphology	55112	DYNC2I1	ORPHA:474
HP:0000772	Abnormal rib morphology	26160	IFT172	ORPHA:474
HP:0000772	Abnormal rib morphology	153241	CEP120	ORPHA:474
HP:0000772	Abnormal rib morphology	57560	IFT80	ORPHA:474
HP:0000772	Abnormal rib morphology	51626	DYNC2LI1	ORPHA:474
HP:0000772	Abnormal rib morphology	79659	DYNC2H1	ORPHA:474
HP:0000772	Abnormal rib morphology	9742	IFT140	ORPHA:474
HP:0000772	Abnormal rib morphology	57728	WDR19	ORPHA:474
HP:0000772	Abnormal rib morphology	89891	DYNC2I2	ORPHA:474
HP:0000772	Abnormal rib morphology	79809	TTC21B	ORPHA:474
HP:0000772	Abnormal rib morphology	392255	GDF6	OMIM:118100
HP:0000772	Abnormal rib morphology	392255	GDF6	ORPHA:2345
HP:0000772	Abnormal rib morphology	1836	SLC26A2	ORPHA:628
HP:0000772	Abnormal rib morphology	1836	SLC26A2	ORPHA:93298
HP:0000772	Abnormal rib morphology	3425	IDUA	ORPHA:93473
HP:0000772	Abnormal rib morphology	28514	DLL1	ORPHA:280195
HP:0000772	Abnormal rib morphology	2253	FGF8	ORPHA:280195
HP:0000772	Abnormal rib morphology	6496	SIX3	ORPHA:280195
HP:0000772	Abnormal rib morphology	7050	TGIF1	ORPHA:280195
HP:0000772	Abnormal rib morphology	4838	NODAL	ORPHA:280195
HP:0000772	Abnormal rib morphology	6469	SHH	ORPHA:280195
HP:0000772	Abnormal rib morphology	7546	ZIC2	ORPHA:280195
HP:0000772	Abnormal rib morphology	6491	STIL	ORPHA:280195
HP:0000772	Abnormal rib morphology	2619	GAS1	ORPHA:280195
HP:0000772	Abnormal rib morphology	84976	DISP1	ORPHA:280195
HP:0000772	Abnormal rib morphology	2736	GLI2	ORPHA:280195
HP:0000772	Abnormal rib morphology	8928	FOXH1	ORPHA:280195
HP:0000772	Abnormal rib morphology	5727	PTCH1	ORPHA:280195
HP:0000772	Abnormal rib morphology	5727	PTCH1	ORPHA:77301
HP:0000772	Abnormal rib morphology	50937	CDON	ORPHA:280195
HP:0000772	Abnormal rib morphology	182	JAG1	OMIM:118450
HP:0000772	Abnormal rib morphology	6299	SALL1	ORPHA:857
HP:0000772	Abnormal rib morphology	51339	DACT1	ORPHA:857
HP:0000772	Abnormal rib morphology	55612	FERMT1	ORPHA:2908
HP:0000772	Abnormal rib morphology	59341	TRPV4	ORPHA:2635
HP:0000772	Abnormal rib morphology	3664	IRF6	ORPHA:1300
HP:0000772	Abnormal rib morphology	3239	HOXD13	ORPHA:887
HP:0000772	Abnormal rib morphology	9573	GDF3	ORPHA:2345
HP:0000772	Abnormal rib morphology	4222	MEOX1	ORPHA:2345
HP:0000772	Abnormal rib morphology	4089	SMAD4	ORPHA:2588
HP:0000772	Abnormal rib morphology	64840	PORCN	OMIM:305600
HP:0000772	Abnormal rib morphology	64840	PORCN	ORPHA:2092
HP:0000772	Abnormal rib morphology	65992	DDRGK1	OMIM:602557
HP:0000772	Abnormal rib morphology	579	NKX3-2	OMIM:613330
HP:0000772	Abnormal rib morphology	6608	SMO	OMIM:241800
HP:0000772	Abnormal rib morphology	23169	SLC35D1	ORPHA:3144
HP:0000772	Abnormal rib morphology	23169	SLC35D1	OMIM:269250
HP:0000772	Abnormal rib morphology	267010	RNU12	OMIM:603116
HP:0000772	Abnormal rib morphology	249	ALPL	OMIM:241500
HP:0000772	Abnormal rib morphology	5331	PLCB3	OMIM:618961
HP:0000772	Abnormal rib morphology	50814	NSDHL	OMIM:308050
HP:0000772	Abnormal rib morphology	2146	EZH2	OMIM:277590
HP:0000772	Abnormal rib morphology	55764	IFT122	OMIM:218330
HP:0000772	Abnormal rib morphology	79087	ALG12	OMIM:607143
HP:0000772	Abnormal rib morphology	9896	FIG4	ORPHA:3472
HP:0000772	Abnormal rib morphology	55697	VAC14	ORPHA:3472
HP:0000772	Abnormal rib morphology	51025	PAM16	OMIM:613320
HP:0000772	Abnormal rib morphology	26005	C2CD3	OMIM:615948
HP:0000772	Abnormal rib morphology	3930	LBR	OMIM:215140
HP:0000772	Abnormal rib morphology	6657	SOX2	ORPHA:77298
HP:0000772	Abnormal rib morphology	65250	CPLANE1	OMIM:277170
HP:0000772	Abnormal rib morphology	259232	NALCN	OMIM:616266
HP:0000772	Abnormal rib morphology	650	BMP2	OMIM:617877
HP:0000772	Abnormal rib morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000772	Abnormal rib morphology	1861	TOR1A	OMIM:618947
HP:0000772	Abnormal rib morphology	55835	CENPJ	OMIM:613676
HP:0000772	Abnormal rib morphology	5557	PRIM1	OMIM:620005
HP:0000772	Abnormal rib morphology	22800	RRAS2	OMIM:618624
HP:0000772	Abnormal rib morphology	1788	DNMT3A	OMIM:618724
HP:0000772	Abnormal rib morphology	8854	ALDH1A2	OMIM:620025
HP:0000772	Abnormal rib morphology	5590	PRKCZ	ORPHA:1606
HP:0000772	Abnormal rib morphology	2563	GABRD	ORPHA:1606
HP:0000772	Abnormal rib morphology	23013	SPEN	ORPHA:1606
HP:0000772	Abnormal rib morphology	8510	MMP23B	ORPHA:1606
HP:0000772	Abnormal rib morphology	7798	LUZP1	ORPHA:1606
HP:0000772	Abnormal rib morphology	6497	SKI	ORPHA:1606
HP:0000772	Abnormal rib morphology	10630	PDPN	ORPHA:1606
HP:0000772	Abnormal rib morphology	3339	HSPG2	ORPHA:1606
HP:0000772	Abnormal rib morphology	10277	UBE4B	ORPHA:1606
HP:0000772	Abnormal rib morphology	8514	KCNAB2	ORPHA:1606
HP:0000772	Abnormal rib morphology	473	RERE	ORPHA:1606
HP:0000772	Abnormal rib morphology	63976	PRDM16	ORPHA:1606
HP:0000772	Abnormal rib morphology	54897	CASZ1	ORPHA:1606
HP:0000772	Abnormal rib morphology	526	ATP6V1B2	ORPHA:79500
HP:0000772	Abnormal rib morphology	57465	TBC1D24	ORPHA:79500
HP:0000772	Abnormal rib morphology	2317	FLNB	OMIM:108720
HP:0000772	Abnormal rib morphology	6223	RPS19	OMIM:105650
HP:0000772	Abnormal rib morphology	10236	HNRNPR	OMIM:620073
HP:0000772	Abnormal rib morphology	222663	SCUBE3	OMIM:619184
HP:0000772	Abnormal rib morphology	9469	CHST3	OMIM:245600
HP:0000772	Abnormal rib morphology	26229	B3GAT3	OMIM:245600
HP:0000772	Abnormal rib morphology	4927	NUP88	OMIM:618393
HP:0000772	Abnormal rib morphology	6662	SOX9	ORPHA:140
HP:0000772	Abnormal rib morphology	6662	SOX9	OMIM:114290
HP:0000772	Abnormal rib morphology	10847	SRCAP	OMIM:136140
HP:0000772	Abnormal rib morphology	10847	SRCAP	ORPHA:2044
HP:0000772	Abnormal rib morphology	10013	HDAC6	OMIM:300863
HP:0000772	Abnormal rib morphology	23114	NFASC	OMIM:618356
HP:0000772	Abnormal rib morphology	11041	B4GAT1	OMIM:615287
HP:0000772	Abnormal rib morphology	8942	KYNU	OMIM:617661
HP:0000772	Abnormal rib morphology	545	ATR	OMIM:210600
HP:0000772	Abnormal rib morphology	93627	TBCK	ORPHA:488632
HP:0000772	Abnormal rib morphology	29980	DONSON	OMIM:617604
HP:0000772	Abnormal rib morphology	22995	CEP152	OMIM:613823
HP:0000772	Abnormal rib morphology	2879	GPX4	OMIM:250220
HP:0000772	Abnormal rib morphology	126792	B3GALT6	OMIM:271640
HP:0000772	Abnormal rib morphology	9131	AIFM1	OMIM:300232
HP:0000772	Abnormal rib morphology	5351	PLOD1	OMIM:225400
HP:0000772	Abnormal rib morphology	4593	MUSK	OMIM:208150
HP:0000772	Abnormal rib morphology	10046	MAMLD1	ORPHA:456328
HP:0000772	Abnormal rib morphology	4534	MTM1	ORPHA:456328
HP:0000772	Abnormal rib morphology	5530	PPP3CA	OMIM:618265
HP:0000772	Abnormal rib morphology	11128	POLR3A	OMIM:264090
HP:0000772	Abnormal rib morphology	274	BIN1	ORPHA:169189
HP:0000772	Abnormal rib morphology	64419	MTMR14	ORPHA:169189
HP:0000772	Abnormal rib morphology	4618	MYF6	ORPHA:169189
HP:0000772	Abnormal rib morphology	1785	DNM2	ORPHA:169189
HP:0000772	Abnormal rib morphology	1785	DNM2	OMIM:615368
HP:0000772	Abnormal rib morphology	6261	RYR1	ORPHA:169189
HP:0000772	Abnormal rib morphology	91179	SCARF2	OMIM:600920
HP:0000772	Abnormal rib morphology	23233	EXOC6B	OMIM:618395
HP:0000772	Abnormal rib morphology	58	ACTA1	ORPHA:171430
HP:0000772	Abnormal rib morphology	4703	NEB	ORPHA:171430
HP:0000772	Abnormal rib morphology	131377	KLHL40	ORPHA:171430
HP:0000772	Abnormal rib morphology	10324	KLHL41	ORPHA:171430
HP:0000772	Abnormal rib morphology	56203	LMOD3	ORPHA:171430
HP:0000772	Abnormal rib morphology	25914	RTTN	OMIM:614833
HP:0000772	Abnormal rib morphology	3911	LAMA5	OMIM:620076
HP:0000772	Abnormal rib morphology	64175	P3H1	OMIM:610915
HP:0000772	Abnormal rib morphology	6905	TBCE	OMIM:244460
HP:0000772	Abnormal rib morphology	6905	TBCE	ORPHA:93324
HP:0000772	Abnormal rib morphology	11274	USP18	OMIM:617397
HP:0000772	Abnormal rib morphology	55603	TENT5A	OMIM:617952
HP:0000772	Abnormal rib morphology	4000	LMNA	ORPHA:1662
HP:0000772	Abnormal rib morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000772	Abnormal rib morphology	8815	BANF1	OMIM:614008
HP:0000772	Abnormal rib morphology	3977	LIFR	OMIM:601559
HP:0000772	Abnormal rib morphology	7471	WNT1	OMIM:615220
HP:0000772	Abnormal rib morphology	1146	CHRNG	OMIM:253290
HP:0000772	Abnormal rib morphology	1144	CHRND	OMIM:253290
HP:0000772	Abnormal rib morphology	1134	CHRNA1	OMIM:253290
HP:0000772	Abnormal rib morphology	871	SERPINH1	OMIM:613848
HP:0000772	Abnormal rib morphology	63901	FAM111A	OMIM:602361
HP:0000772	Abnormal rib morphology	139285	AMER1	OMIM:300373
HP:0000772	Abnormal rib morphology	9791	PTDSS1	OMIM:151050
HP:0000772	Abnormal rib morphology	7030	TFE3	OMIM:301066
HP:0000772	Abnormal rib morphology	7476	WNT7A	OMIM:276820
HP:0000772	Abnormal rib morphology	538	ATP7A	OMIM:304150
HP:0000772	Abnormal rib morphology	64131	XYLT1	ORPHA:370930
HP:0000772	Abnormal rib morphology	411	ARSB	OMIM:253200
HP:0000772	Abnormal rib morphology	5745	PTH1R	OMIM:600002
HP:0000772	Abnormal rib morphology	91754	NEK9	OMIM:617022
HP:0000772	Abnormal rib morphology	79639	TMEM53	OMIM:619727
HP:0000772	Abnormal rib morphology	3557	IL1RN	OMIM:612852
HP:0000772	Abnormal rib morphology	79158	GNPTAB	OMIM:252600
HP:0000772	Abnormal rib morphology	26040	SETBP1	OMIM:269150
HP:0000772	Abnormal rib morphology	26040	SETBP1	ORPHA:798
HP:0000772	Abnormal rib morphology	3764	KCNJ8	ORPHA:1517
HP:0000772	Abnormal rib morphology	10060	ABCC9	ORPHA:1517
HP:0000772	Abnormal rib morphology	81794	ADAMTS10	OMIM:277600
HP:0000772	Abnormal rib morphology	7317	UBA1	ORPHA:1145
HP:0000772	Abnormal rib morphology	3549	IHH	OMIM:607778
HP:0000772	Abnormal rib morphology	5130	PCYT1A	OMIM:608940
HP:0000772	Abnormal rib morphology	5130	PCYT1A	ORPHA:85167
HP:0000772	Abnormal rib morphology	1280	COL2A1	OMIM:200610
HP:0000772	Abnormal rib morphology	2121	EVC	OMIM:225500
HP:0000772	Abnormal rib morphology	132884	EVC2	OMIM:225500
HP:0000772	Abnormal rib morphology	28981	IFT81	OMIM:617895
HP:0000772	Abnormal rib morphology	4750	NEK1	OMIM:263520
HP:0000772	Abnormal rib morphology	27152	INTU	OMIM:617925
HP:0000772	Abnormal rib morphology	9820	CUL7	ORPHA:2616
HP:0000772	Abnormal rib morphology	23363	OBSL1	ORPHA:2616
HP:0000772	Abnormal rib morphology	83987	CCDC8	ORPHA:2616
HP:0000772	Abnormal rib morphology	57539	WDR35	OMIM:613610
HP:0000772	Abnormal rib morphology	255758	DYNLT2B	OMIM:617405
HP:0000772	Abnormal rib morphology	5826	ABCD4	OMIM:614857
HP:0000772	Abnormal rib morphology	2627	GATA6	OMIM:600001
HP:0000772	Abnormal rib morphology	2627	GATA6	ORPHA:2255
HP:0000772	Abnormal rib morphology	860	RUNX2	OMIM:119600
HP:0000772	Abnormal rib morphology	5159	PDGFRB	OMIM:601812
HP:0000772	Abnormal rib morphology	29123	ANKRD11	OMIM:148050
HP:0000772	Abnormal rib morphology	29123	ANKRD11	ORPHA:2332
HP:0000772	Abnormal rib morphology	6651	SON	OMIM:617140
HP:0000772	Abnormal rib morphology	6651	SON	ORPHA:500150
HP:0000772	Abnormal rib morphology	3899	AFF3	OMIM:619297
HP:0000772	Abnormal rib morphology	2719	GPC3	OMIM:312870
HP:0000772	Abnormal rib morphology	2239	GPC4	OMIM:312870
HP:0000772	Abnormal rib morphology	9939	RBM8A	ORPHA:3320
HP:0000772	Abnormal rib morphology	9939	RBM8A	OMIM:274000
HP:0000772	Abnormal rib morphology	10992	SF3B2	OMIM:164210
HP:0000772	Abnormal rib morphology	55081	IFT57	OMIM:617927
HP:0000772	Abnormal rib morphology	54499	TMCO1	ORPHA:1394
HP:0000772	Abnormal rib morphology	54499	TMCO1	OMIM:213980
HP:0000772	Abnormal rib morphology	7421	VDR	OMIM:277440
HP:0000772	Abnormal rib morphology	120227	CYP2R1	OMIM:600081
HP:0000772	Abnormal rib morphology	1594	CYP27B1	OMIM:264700
HP:0000772	Abnormal rib morphology	142680	SLC34A3	OMIM:241530
HP:0000772	Abnormal rib morphology	2131	EXT1	ORPHA:321
HP:0000772	Abnormal rib morphology	2131	EXT1	OMIM:133700
HP:0000772	Abnormal rib morphology	2132	EXT2	ORPHA:321
HP:0000772	Abnormal rib morphology	2132	EXT2	OMIM:133701
HP:0000772	Abnormal rib morphology	1497	CTNS	OMIM:219800
HP:0000772	Abnormal rib morphology	6569	SLC34A1	ORPHA:157215
HP:0000772	Abnormal rib morphology	4125	MAN2B1	ORPHA:309282
HP:0000772	Abnormal rib morphology	3423	IDS	ORPHA:217085
HP:0000772	Abnormal rib morphology	3423	IDS	ORPHA:217093
HP:0000772	Abnormal rib morphology	6448	SGSH	OMIM:252900
HP:0000772	Abnormal rib morphology	138050	HGSNAT	OMIM:252930
HP:0000772	Abnormal rib morphology	4669	NAGLU	OMIM:252920
HP:0000772	Abnormal rib morphology	2799	GNS	OMIM:252940
HP:0000772	Abnormal rib morphology	2737	GLI3	ORPHA:672
HP:0000772	Abnormal rib morphology	2737	GLI3	OMIM:146510
HP:0000772	Abnormal rib morphology	64359	NXN	ORPHA:1507
HP:0000772	Abnormal rib morphology	4621	MYH3	ORPHA:2990
HP:0000772	Abnormal rib morphology	9401	RECQL4	OMIM:218600
HP:0000772	Abnormal rib morphology	25970	SH2B1	ORPHA:261197
HP:0000772	Abnormal rib morphology	6885	MAP3K7	OMIM:157800
HP:0000772	Abnormal rib morphology	4953	ODC1	ORPHA:544488
HP:0000772	Abnormal rib morphology	2588	GALNS	OMIM:253000
HP:0000772	Abnormal rib morphology	100	ADA	OMIM:102700
HP:0000772	Abnormal rib morphology	79631	EFL1	OMIM:617941
HP:0000772	Abnormal rib morphology	755	CFAP410	OMIM:602271
HP:0000772	Abnormal rib morphology	2261	FGFR3	OMIM:187601
HP:0000772	Abnormal rib morphology	2261	FGFR3	OMIM:187600
HP:0000772	Abnormal rib morphology	6911	TBX6	ORPHA:1797
HP:0000772	Abnormal rib morphology	6911	TBX6	OMIM:122600
HP:0000772	Abnormal rib morphology	2294	FOXF1	OMIM:265380
HP:0000772	Abnormal rib morphology	388015	RTL1	ORPHA:96334
HP:0000772	Abnormal rib morphology	8788	DLK1	ORPHA:96334
HP:0000772	Abnormal rib morphology	55384	MEG3	ORPHA:96334
HP:0000772	Abnormal rib morphology	415	ARSL	ORPHA:79345
HP:0000772	Abnormal rib morphology	9241	NOG	OMIM:186500
HP:0000772	Abnormal rib morphology	54808	DYM	OMIM:223800
HP:0000772	Abnormal rib morphology	5593	PRKG2	OMIM:619636
HP:0000772	Abnormal rib morphology	5251	PHEX	ORPHA:89936
HP:0000772	Abnormal rib morphology	4920	ROR2	OMIM:268310
HP:0000772	Abnormal rib morphology	9897	WASHC5	OMIM:220210
HP:0000772	Abnormal rib morphology	9897	WASHC5	ORPHA:7
HP:0000772	Abnormal rib morphology	10606	PAICS	OMIM:619859
HP:0000772	Abnormal rib morphology	81839	VANGL1	ORPHA:3027
HP:0000772	Abnormal rib morphology	80199	FUZ	ORPHA:3027
HP:0000772	Abnormal rib morphology	28952	CCDC22	ORPHA:7
HP:0000772	Abnormal rib morphology	5781	PTPN11	OMIM:151100
HP:0000772	Abnormal rib morphology	4617	MYF5	OMIM:618155
HP:0000772	Abnormal rib morphology	112752	IFT43	OMIM:617866
HP:0000772	Abnormal rib morphology	2200	FBN1	ORPHA:2462
HP:0000772	Abnormal rib morphology	4990	SIX6	OMIM:206900
HP:0000772	Abnormal rib morphology	2313	FLI1	ORPHA:2308
HP:0000772	Abnormal rib morphology	4148	MATN3	OMIM:608728
HP:0000772	Abnormal rib morphology	4921	DDR2	OMIM:271665
HP:0000772	Abnormal rib morphology	3636	INPPL1	OMIM:258480
HP:0000772	Abnormal rib morphology	633	BGN	OMIM:300106
HP:0000772	Abnormal rib morphology	202018	TAPT1	OMIM:616897
HP:0000772	Abnormal rib morphology	9321	TRIP11	OMIM:200600
HP:0000772	Abnormal rib morphology	90993	CREB3L1	OMIM:616229
HP:0000772	Abnormal rib morphology	1277	COL1A1	OMIM:166210
HP:0000772	Abnormal rib morphology	1278	COL1A2	OMIM:166210
HP:0000772	Abnormal rib morphology	5479	PPIB	OMIM:259440
HP:0000772	Abnormal rib morphology	8517	IKBKG	ORPHA:464
HP:0000772	Abnormal rib morphology	8517	IKBKG	OMIM:308300
HP:0000772	Abnormal rib morphology	4094	MAF	ORPHA:1272
HP:0000772	Abnormal rib morphology	5077	PAX3	OMIM:193500
HP:0000772	Abnormal rib morphology	10651	MTX2	OMIM:619127
HP:0000772	Abnormal rib morphology	10220	GDF11	OMIM:619122
HP:0000772	Abnormal rib morphology	25836	NIPBL	OMIM:122470
HP:0000772	Abnormal rib morphology	60	ACTB	ORPHA:64755
HP:0000772	Abnormal rib morphology	286	ANK1	ORPHA:251066
HP:0000772	Abnormal rib morphology	6231	RPS26	OMIM:613309
HP:0000772	Abnormal rib morphology	6628	SNRPB	OMIM:117650
HP:0000772	Abnormal rib morphology	51119	SBDS	OMIM:260400
HP:0000772	Abnormal rib morphology	134218	DNAJC21	OMIM:260400
HP:0000772	Abnormal rib morphology	6729	SRP54	OMIM:260400
HP:0000772	Abnormal rib morphology	4322	MMP13	OMIM:602111
HP:0000772	Abnormal rib morphology	168667	BMPER	OMIM:608022
HP:0000772	Abnormal rib morphology	10682	EBP	ORPHA:35173
HP:0000772	Abnormal rib morphology	1300	COL10A1	ORPHA:174
HP:0000772	Abnormal rib morphology	10491	CRTAP	OMIM:610682
HP:0000772	Abnormal rib morphology	8792	TNFRSF11A	OMIM:612301
HP:0000772	Abnormal rib morphology	760	CA2	ORPHA:2785
HP:0000772	Abnormal rib morphology	4256	MGP	OMIM:245150
HP:0000772	Abnormal rib morphology	10861	SLC26A1	OMIM:620372
HP:0000772	Abnormal rib morphology	10815	CPLX1	ORPHA:280
HP:0000772	Abnormal rib morphology	10815	CPLX1	OMIM:194190
HP:0000772	Abnormal rib morphology	54872	PIGG	ORPHA:280
HP:0000772	Abnormal rib morphology	7469	NELFA	ORPHA:280
HP:0000772	Abnormal rib morphology	1487	CTBP1	ORPHA:280
HP:0000772	Abnormal rib morphology	1487	CTBP1	OMIM:194190
HP:0000772	Abnormal rib morphology	3954	LETM1	ORPHA:280
HP:0000772	Abnormal rib morphology	3954	LETM1	OMIM:194190
HP:0000772	Abnormal rib morphology	7468	NSD2	ORPHA:280
HP:0000772	Abnormal rib morphology	7468	NSD2	OMIM:194190
HP:0000772	Abnormal rib morphology	53834	FGFRL1	OMIM:194190
HP:0000772	Abnormal rib morphology	4010	LMX1B	OMIM:161200
HP:0000772	Abnormal rib morphology	10262	SF3B4	OMIM:154400
HP:0000772	Abnormal rib morphology	79848	CSPP1	ORPHA:397715
HP:0000772	Abnormal rib morphology	9786	KIAA0586	ORPHA:397715
HP:0000772	Abnormal rib morphology	22827	PUF60	ORPHA:508498
HP:0000772	Abnormal rib morphology	55780	ERMARD	ORPHA:75857
HP:0000772	Abnormal rib morphology	4297	KMT2A	ORPHA:319182
HP:0000772	Abnormal rib morphology	1311	COMP	OMIM:177170
HP:0000772	Abnormal rib morphology	153642	ARSK	OMIM:619698
HP:0000772	Abnormal rib morphology	2720	GLB1	ORPHA:79255
HP:0000772	Abnormal rib morphology	9382	COG1	OMIM:611209
HP:0000772	Abnormal rib morphology	9382	COG1	ORPHA:263508
HP:0000772	Abnormal rib morphology	55503	TRPV6	OMIM:618188
HP:0006619	Anterior rib punctate calcifications	10682	EBP	ORPHA:35173
HP:0006619	Anterior rib punctate calcifications	3930	LBR	OMIM:215140
HP:0006619	Anterior rib punctate calcifications	3930	LBR	ORPHA:1426
HP:0011863	Abnormal sternal ossification	9896	FIG4	OMIM:216340
HP:0011863	Abnormal sternal ossification	9896	FIG4	ORPHA:3472
HP:0011863	Abnormal sternal ossification	6662	SOX9	OMIM:114290
HP:0011863	Abnormal sternal ossification	55697	VAC14	ORPHA:3472
HP:0011863	Abnormal sternal ossification	23594	ORC6	OMIM:613803
HP:0011863	Abnormal sternal ossification	4998	ORC1	OMIM:224690
HP:0011863	Abnormal sternal ossification	4784	NFIX	OMIM:602535
HP:0011863	Abnormal sternal ossification	10225	CD96	OMIM:211750
HP:0011863	Abnormal sternal ossification	53834	FGFRL1	OMIM:194190
HP:0011863	Abnormal sternal ossification	1487	CTBP1	OMIM:194190
HP:0011863	Abnormal sternal ossification	3954	LETM1	OMIM:194190
HP:0011863	Abnormal sternal ossification	7468	NSD2	OMIM:194190
HP:0011863	Abnormal sternal ossification	10815	CPLX1	OMIM:194190
HP:0001591	Bell-shaped thorax	4921	DDR2	OMIM:271665
HP:0001591	Bell-shaped thorax	9321	TRIP11	OMIM:200600
HP:0001591	Bell-shaped thorax	65992	DDRGK1	OMIM:602557
HP:0001591	Bell-shaped thorax	6628	SNRPB	OMIM:117650
HP:0001591	Bell-shaped thorax	6628	SNRPB	ORPHA:1393
HP:0001591	Bell-shaped thorax	153241	CEP120	OMIM:616300
HP:0001591	Bell-shaped thorax	11014	KDELR2	OMIM:619131
HP:0001591	Bell-shaped thorax	89891	DYNC2I2	OMIM:615633
HP:0001591	Bell-shaped thorax	26160	IFT172	OMIM:615630
HP:0001591	Bell-shaped thorax	84168	ANTXR1	OMIM:230740
HP:0001591	Bell-shaped thorax	79848	CSPP1	OMIM:615636
HP:0001591	Bell-shaped thorax	79848	CSPP1	ORPHA:397715
HP:0001591	Bell-shaped thorax	1277	COL1A1	OMIM:166210
HP:0001591	Bell-shaped thorax	1278	COL1A2	OMIM:166210
HP:0001591	Bell-shaped thorax	1302	COL11A2	OMIM:614524
HP:0001591	Bell-shaped thorax	1302	COL11A2	ORPHA:2021
HP:0001591	Bell-shaped thorax	55733	HHAT	OMIM:600092
HP:0001591	Bell-shaped thorax	2263	FGFR2	ORPHA:313855
HP:0001591	Bell-shaped thorax	2263	FGFR2	OMIM:614592
HP:0001591	Bell-shaped thorax	64131	XYLT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	124583	CANT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	55790	CSGALNACT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	2317	FLNB	OMIM:108720
HP:0001591	Bell-shaped thorax	1280	COL2A1	ORPHA:485
HP:0001591	Bell-shaped thorax	1836	SLC26A2	ORPHA:56304
HP:0001591	Bell-shaped thorax	9786	KIAA0586	ORPHA:397715
HP:0001591	Bell-shaped thorax	3636	INPPL1	OMIM:258480
HP:0001591	Bell-shaped thorax	6913	TBX15	OMIM:260660
HP:0001591	Bell-shaped thorax	1436	CSF1R	OMIM:618476
HP:0001591	Bell-shaped thorax	89910	UBE3B	OMIM:244450
HP:0001591	Bell-shaped thorax	51025	PAM16	OMIM:613320
HP:0001591	Bell-shaped thorax	84667	HES7	OMIM:613686
HP:0001591	Bell-shaped thorax	5081	PAX7	OMIM:618578
HP:0001591	Bell-shaped thorax	1301	COL11A1	ORPHA:2021
HP:0001591	Bell-shaped thorax	5826	ABCD4	OMIM:614857
HP:0001591	Bell-shaped thorax	5189	PEX1	OMIM:214100
HP:0001591	Bell-shaped thorax	168667	BMPER	OMIM:608022
HP:0006628	Absent sternal ossification	9896	FIG4	OMIM:216340
HP:0006628	Absent sternal ossification	9896	FIG4	ORPHA:3472
HP:0006628	Absent sternal ossification	6662	SOX9	OMIM:114290
HP:0006628	Absent sternal ossification	55697	VAC14	ORPHA:3472
HP:0006628	Absent sternal ossification	23594	ORC6	OMIM:613803
HP:0006628	Absent sternal ossification	4998	ORC1	OMIM:224690
HP:0006633	Glenoid fossa hypoplasia	4010	LMX1B	OMIM:161200
HP:0006633	Glenoid fossa hypoplasia	26175	LYSET	OMIM:619345
HP:0006633	Glenoid fossa hypoplasia	91179	SCARF2	OMIM:600920
HP:0006633	Glenoid fossa hypoplasia	54808	DYM	ORPHA:239
HP:0006634	Osteosclerosis of ribs	1300	COL10A1	ORPHA:174
HP:0000887	Cupped ribs	7317	UBA1	ORPHA:1145
HP:0000887	Cupped ribs	59341	TRPV4	OMIM:156530
HP:0000887	Cupped ribs	1302	COL11A2	OMIM:614524
HP:0000887	Cupped ribs	3549	IHH	OMIM:607778
HP:0000887	Cupped ribs	5130	PCYT1A	OMIM:608940
HP:0000887	Cupped ribs	5130	PCYT1A	ORPHA:85167
HP:0000887	Cupped ribs	2879	GPX4	OMIM:250220
HP:0000887	Cupped ribs	126792	B3GALT6	OMIM:271640
HP:0000887	Cupped ribs	4921	DDR2	OMIM:271665
HP:0000887	Cupped ribs	1300	COL10A1	ORPHA:174
HP:0000887	Cupped ribs	9131	AIFM1	OMIM:300232
HP:0000887	Cupped ribs	3636	INPPL1	OMIM:258480
HP:0000887	Cupped ribs	1280	COL2A1	OMIM:184250
HP:0000887	Cupped ribs	1301	COL11A1	OMIM:228520
HP:0000887	Cupped ribs	51119	SBDS	OMIM:260400
HP:0000887	Cupped ribs	134218	DNAJC21	OMIM:260400
HP:0000887	Cupped ribs	6729	SRP54	OMIM:260400
HP:0000887	Cupped ribs	100	ADA	OMIM:102700
HP:0000887	Cupped ribs	79631	EFL1	OMIM:617941
HP:0000887	Cupped ribs	755	CFAP410	OMIM:602271
HP:0000887	Cupped ribs	23169	SLC35D1	OMIM:269250
HP:0000887	Cupped ribs	388015	RTL1	ORPHA:96334
HP:0000887	Cupped ribs	8788	DLK1	ORPHA:96334
HP:0000887	Cupped ribs	55384	MEG3	ORPHA:96334
HP:0000887	Cupped ribs	4148	MATN3	OMIM:608728
HP:0000887	Cupped ribs	633	BGN	OMIM:300106
HP:0000887	Cupped ribs	4322	MMP13	OMIM:602111
HP:0006712	Aplasia/Hypoplasia of the ribs	2261	FGFR3	OMIM:187601
HP:0006712	Aplasia/Hypoplasia of the ribs	2261	FGFR3	OMIM:187600
HP:0006712	Aplasia/Hypoplasia of the ribs	2261	FGFR3	OMIM:100800
HP:0006712	Aplasia/Hypoplasia of the ribs	4921	DDR2	OMIM:271665
HP:0006712	Aplasia/Hypoplasia of the ribs	64840	PORCN	OMIM:305600
HP:0006712	Aplasia/Hypoplasia of the ribs	64840	PORCN	ORPHA:2092
HP:0006712	Aplasia/Hypoplasia of the ribs	65992	DDRGK1	OMIM:602557
HP:0006712	Aplasia/Hypoplasia of the ribs	79659	DYNC2H1	OMIM:613091
HP:0006712	Aplasia/Hypoplasia of the ribs	79659	DYNC2H1	ORPHA:93271
HP:0006712	Aplasia/Hypoplasia of the ribs	1836	SLC26A2	OMIM:600972
HP:0006712	Aplasia/Hypoplasia of the ribs	1836	SLC26A2	ORPHA:56304
HP:0006712	Aplasia/Hypoplasia of the ribs	1280	COL2A1	OMIM:151210
HP:0006712	Aplasia/Hypoplasia of the ribs	1280	COL2A1	ORPHA:93296
HP:0006712	Aplasia/Hypoplasia of the ribs	1280	COL2A1	OMIM:200610
HP:0006712	Aplasia/Hypoplasia of the ribs	28981	IFT81	OMIM:617895
HP:0006712	Aplasia/Hypoplasia of the ribs	579	NKX3-2	OMIM:613330
HP:0006712	Aplasia/Hypoplasia of the ribs	4750	NEK1	OMIM:263520
HP:0006712	Aplasia/Hypoplasia of the ribs	55503	TRPV6	OMIM:618188
HP:0006712	Aplasia/Hypoplasia of the ribs	26160	IFT172	OMIM:615630
HP:0006712	Aplasia/Hypoplasia of the ribs	79848	CSPP1	OMIM:615636
HP:0006712	Aplasia/Hypoplasia of the ribs	79848	CSPP1	ORPHA:397715
HP:0006712	Aplasia/Hypoplasia of the ribs	57539	WDR35	OMIM:613610
HP:0006712	Aplasia/Hypoplasia of the ribs	57539	WDR35	ORPHA:93271
HP:0006712	Aplasia/Hypoplasia of the ribs	57539	WDR35	OMIM:614091
HP:0006712	Aplasia/Hypoplasia of the ribs	6608	SMO	OMIM:241800
HP:0006712	Aplasia/Hypoplasia of the ribs	3636	INPPL1	ORPHA:3144
HP:0006712	Aplasia/Hypoplasia of the ribs	23169	SLC35D1	ORPHA:3144
HP:0006712	Aplasia/Hypoplasia of the ribs	23169	SLC35D1	OMIM:269250
HP:0006712	Aplasia/Hypoplasia of the ribs	5745	PTH1R	OMIM:215045
HP:0006712	Aplasia/Hypoplasia of the ribs	5745	PTH1R	OMIM:156400
HP:0006712	Aplasia/Hypoplasia of the ribs	5745	PTH1R	ORPHA:50945
HP:0006712	Aplasia/Hypoplasia of the ribs	9786	KIAA0586	ORPHA:397715
HP:0006712	Aplasia/Hypoplasia of the ribs	9786	KIAA0586	OMIM:616546
HP:0006712	Aplasia/Hypoplasia of the ribs	59341	TRPV4	OMIM:156530
HP:0006712	Aplasia/Hypoplasia of the ribs	267010	RNU12	OMIM:603116
HP:0006712	Aplasia/Hypoplasia of the ribs	55112	DYNC2I1	ORPHA:93271
HP:0006712	Aplasia/Hypoplasia of the ribs	55112	DYNC2I1	OMIM:615503
HP:0006712	Aplasia/Hypoplasia of the ribs	57560	IFT80	ORPHA:93271
HP:0006712	Aplasia/Hypoplasia of the ribs	89891	DYNC2I2	ORPHA:93271
HP:0006712	Aplasia/Hypoplasia of the ribs	249	ALPL	OMIM:241500
HP:0006712	Aplasia/Hypoplasia of the ribs	91179	SCARF2	OMIM:600920
HP:0006712	Aplasia/Hypoplasia of the ribs	202018	TAPT1	OMIM:616897
HP:0006712	Aplasia/Hypoplasia of the ribs	388015	RTL1	ORPHA:96334
HP:0006712	Aplasia/Hypoplasia of the ribs	8788	DLK1	ORPHA:96334
HP:0006712	Aplasia/Hypoplasia of the ribs	55384	MEG3	ORPHA:96334
HP:0006712	Aplasia/Hypoplasia of the ribs	2316	FLNA	OMIM:304120
HP:0006712	Aplasia/Hypoplasia of the ribs	3911	LAMA5	OMIM:620076
HP:0006712	Aplasia/Hypoplasia of the ribs	9321	TRIP11	OMIM:200600
HP:0006712	Aplasia/Hypoplasia of the ribs	5331	PLCB3	OMIM:618961
HP:0006712	Aplasia/Hypoplasia of the ribs	2121	EVC	OMIM:225500
HP:0006712	Aplasia/Hypoplasia of the ribs	132884	EVC2	OMIM:225500
HP:0006712	Aplasia/Hypoplasia of the ribs	153241	CEP120	OMIM:616300
HP:0006712	Aplasia/Hypoplasia of the ribs	4998	ORC1	OMIM:224690
HP:0006712	Aplasia/Hypoplasia of the ribs	50814	NSDHL	OMIM:308050
HP:0006712	Aplasia/Hypoplasia of the ribs	7317	UBA1	ORPHA:1145
HP:0006712	Aplasia/Hypoplasia of the ribs	2146	EZH2	OMIM:277590
HP:0006712	Aplasia/Hypoplasia of the ribs	1302	COL11A2	OMIM:614524
HP:0006712	Aplasia/Hypoplasia of the ribs	1302	COL11A2	ORPHA:2021
HP:0006712	Aplasia/Hypoplasia of the ribs	9820	CUL7	OMIM:273750
HP:0006712	Aplasia/Hypoplasia of the ribs	55764	IFT122	OMIM:218330
HP:0006712	Aplasia/Hypoplasia of the ribs	79087	ALG12	OMIM:607143
HP:0006712	Aplasia/Hypoplasia of the ribs	9896	FIG4	ORPHA:3472
HP:0006712	Aplasia/Hypoplasia of the ribs	55697	VAC14	ORPHA:3472
HP:0006712	Aplasia/Hypoplasia of the ribs	3549	IHH	OMIM:607778
HP:0006712	Aplasia/Hypoplasia of the ribs	860	RUNX2	OMIM:119600
HP:0006712	Aplasia/Hypoplasia of the ribs	51626	DYNC2LI1	OMIM:617088
HP:0006712	Aplasia/Hypoplasia of the ribs	9742	IFT140	OMIM:266920
HP:0006712	Aplasia/Hypoplasia of the ribs	1301	COL11A1	OMIM:228520
HP:0006712	Aplasia/Hypoplasia of the ribs	1301	COL11A1	ORPHA:2021
HP:0006712	Aplasia/Hypoplasia of the ribs	51025	PAM16	OMIM:613320
HP:0006712	Aplasia/Hypoplasia of the ribs	27152	INTU	OMIM:617925
HP:0006712	Aplasia/Hypoplasia of the ribs	2719	GPC3	OMIM:312870
HP:0006712	Aplasia/Hypoplasia of the ribs	2239	GPC4	OMIM:312870
HP:0006712	Aplasia/Hypoplasia of the ribs	255758	DYNLT2B	OMIM:617405
HP:0006712	Aplasia/Hypoplasia of the ribs	26005	C2CD3	OMIM:615948
HP:0006712	Aplasia/Hypoplasia of the ribs	79158	GNPTAB	OMIM:252600
HP:0006712	Aplasia/Hypoplasia of the ribs	23594	ORC6	OMIM:613803
HP:0006712	Aplasia/Hypoplasia of the ribs	5727	PTCH1	OMIM:109400
HP:0006712	Aplasia/Hypoplasia of the ribs	3930	LBR	OMIM:215140
HP:0006712	Aplasia/Hypoplasia of the ribs	65250	CPLANE1	OMIM:277170
HP:0006712	Aplasia/Hypoplasia of the ribs	259232	NALCN	OMIM:616266
HP:0006712	Aplasia/Hypoplasia of the ribs	650	BMP2	OMIM:617877
HP:0006712	Aplasia/Hypoplasia of the ribs	100151683	RNU4ATAC	OMIM:210710
HP:0006712	Aplasia/Hypoplasia of the ribs	1861	TOR1A	OMIM:618947
HP:0006712	Aplasia/Hypoplasia of the ribs	55835	CENPJ	OMIM:613676
HP:0006712	Aplasia/Hypoplasia of the ribs	5557	PRIM1	OMIM:620005
HP:0006712	Aplasia/Hypoplasia of the ribs	22800	RRAS2	OMIM:618624
HP:0006712	Aplasia/Hypoplasia of the ribs	1788	DNMT3A	OMIM:618724
HP:0006712	Aplasia/Hypoplasia of the ribs	8854	ALDH1A2	OMIM:620025
HP:0006712	Aplasia/Hypoplasia of the ribs	5590	PRKCZ	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	2563	GABRD	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	23013	SPEN	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	8510	MMP23B	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	7798	LUZP1	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	10630	PDPN	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	3339	HSPG2	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	10277	UBE4B	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	8514	KCNAB2	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	473	RERE	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	63976	PRDM16	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	54897	CASZ1	ORPHA:1606
HP:0006712	Aplasia/Hypoplasia of the ribs	526	ATP6V1B2	ORPHA:79500
HP:0006712	Aplasia/Hypoplasia of the ribs	57465	TBC1D24	ORPHA:79500
HP:0006712	Aplasia/Hypoplasia of the ribs	2317	FLNB	OMIM:108720
HP:0006712	Aplasia/Hypoplasia of the ribs	6223	RPS19	OMIM:105650
HP:0006712	Aplasia/Hypoplasia of the ribs	10236	HNRNPR	OMIM:620073
HP:0006712	Aplasia/Hypoplasia of the ribs	222663	SCUBE3	OMIM:619184
HP:0006712	Aplasia/Hypoplasia of the ribs	9469	CHST3	OMIM:245600
HP:0006712	Aplasia/Hypoplasia of the ribs	26229	B3GAT3	OMIM:245600
HP:0006712	Aplasia/Hypoplasia of the ribs	4927	NUP88	OMIM:618393
HP:0006712	Aplasia/Hypoplasia of the ribs	6662	SOX9	ORPHA:140
HP:0006712	Aplasia/Hypoplasia of the ribs	6662	SOX9	OMIM:114290
HP:0006712	Aplasia/Hypoplasia of the ribs	10847	SRCAP	OMIM:136140
HP:0006712	Aplasia/Hypoplasia of the ribs	10847	SRCAP	ORPHA:2044
HP:0006712	Aplasia/Hypoplasia of the ribs	10013	HDAC6	OMIM:300863
HP:0006712	Aplasia/Hypoplasia of the ribs	23114	NFASC	OMIM:618356
HP:0006712	Aplasia/Hypoplasia of the ribs	11041	B4GAT1	OMIM:615287
HP:0006712	Aplasia/Hypoplasia of the ribs	8942	KYNU	OMIM:617661
HP:0006712	Aplasia/Hypoplasia of the ribs	545	ATR	OMIM:210600
HP:0006712	Aplasia/Hypoplasia of the ribs	93627	TBCK	ORPHA:488632
HP:0006712	Aplasia/Hypoplasia of the ribs	22995	CEP152	OMIM:613823
HP:0006712	Aplasia/Hypoplasia of the ribs	2879	GPX4	OMIM:250220
HP:0006712	Aplasia/Hypoplasia of the ribs	126792	B3GALT6	OMIM:271640
HP:0006712	Aplasia/Hypoplasia of the ribs	4920	ROR2	OMIM:268310
HP:0006712	Aplasia/Hypoplasia of the ribs	9897	WASHC5	OMIM:220210
HP:0006712	Aplasia/Hypoplasia of the ribs	9897	WASHC5	ORPHA:7
HP:0006712	Aplasia/Hypoplasia of the ribs	10606	PAICS	OMIM:619859
HP:0006712	Aplasia/Hypoplasia of the ribs	168667	BMPER	ORPHA:66637
HP:0006712	Aplasia/Hypoplasia of the ribs	168667	BMPER	OMIM:608022
HP:0006712	Aplasia/Hypoplasia of the ribs	7473	WNT3	ORPHA:3301
HP:0006712	Aplasia/Hypoplasia of the ribs	340419	RSPO2	ORPHA:3301
HP:0006712	Aplasia/Hypoplasia of the ribs	81839	VANGL1	ORPHA:3027
HP:0006712	Aplasia/Hypoplasia of the ribs	80199	FUZ	ORPHA:3027
HP:0006712	Aplasia/Hypoplasia of the ribs	28952	CCDC22	ORPHA:7
HP:0006712	Aplasia/Hypoplasia of the ribs	5781	PTPN11	OMIM:151100
HP:0006712	Aplasia/Hypoplasia of the ribs	4617	MYF5	OMIM:618155
HP:0006712	Aplasia/Hypoplasia of the ribs	112752	IFT43	OMIM:617866
HP:0006712	Aplasia/Hypoplasia of the ribs	6911	TBX6	ORPHA:1797
HP:0006712	Aplasia/Hypoplasia of the ribs	6911	TBX6	OMIM:122600
HP:0006712	Aplasia/Hypoplasia of the ribs	84667	HES7	OMIM:613686
HP:0006712	Aplasia/Hypoplasia of the ribs	2200	FBN1	ORPHA:2462
HP:0006712	Aplasia/Hypoplasia of the ribs	6497	SKI	ORPHA:2462
HP:0006712	Aplasia/Hypoplasia of the ribs	4990	SIX6	OMIM:206900
HP:0006712	Aplasia/Hypoplasia of the ribs	6657	SOX2	OMIM:206900
HP:0006712	Aplasia/Hypoplasia of the ribs	2313	FLI1	ORPHA:2308
HP:0006712	Aplasia/Hypoplasia of the ribs	29980	DONSON	OMIM:251230
HP:0006712	Aplasia/Hypoplasia of the ribs	4010	LMX1B	OMIM:161200
HP:0006712	Aplasia/Hypoplasia of the ribs	10262	SF3B4	OMIM:154400
HP:0006712	Aplasia/Hypoplasia of the ribs	26040	SETBP1	OMIM:269150
HP:0006712	Aplasia/Hypoplasia of the ribs	22827	PUF60	ORPHA:508498
HP:0006712	Aplasia/Hypoplasia of the ribs	55780	ERMARD	ORPHA:75857
HP:0006712	Aplasia/Hypoplasia of the ribs	4297	KMT2A	ORPHA:319182
HP:0006712	Aplasia/Hypoplasia of the ribs	6628	SNRPB	OMIM:117650
HP:0006637	Sternal punctate calcifications	3930	LBR	OMIM:215140
HP:0006638	Midclavicular aplasia	64840	PORCN	OMIM:305600
HP:0000768	Pectus carinatum	1280	COL2A1	OMIM:271700
HP:0000768	Pectus carinatum	1280	COL2A1	OMIM:184255
HP:0000768	Pectus carinatum	1280	COL2A1	OMIM:184250
HP:0000768	Pectus carinatum	1280	COL2A1	ORPHA:93315
HP:0000768	Pectus carinatum	1280	COL2A1	ORPHA:166100
HP:0000768	Pectus carinatum	1280	COL2A1	OMIM:183900
HP:0000768	Pectus carinatum	875	CBS	ORPHA:394
HP:0000768	Pectus carinatum	875	CBS	OMIM:236200
HP:0000768	Pectus carinatum	11253	MAN1B1	ORPHA:397941
HP:0000768	Pectus carinatum	8216	LZTR1	OMIM:616564
HP:0000768	Pectus carinatum	8216	LZTR1	OMIM:605275
HP:0000768	Pectus carinatum	8216	LZTR1	ORPHA:648
HP:0000768	Pectus carinatum	4750	NEK1	OMIM:263520
HP:0000768	Pectus carinatum	5885	RAD21	OMIM:614701
HP:0000768	Pectus carinatum	84282	RNF135	ORPHA:137634
HP:0000768	Pectus carinatum	81857	MED25	OMIM:616449
HP:0000768	Pectus carinatum	81857	MED25	ORPHA:464738
HP:0000768	Pectus carinatum	538	ATP7A	OMIM:304150
HP:0000768	Pectus carinatum	538	ATP7A	ORPHA:198
HP:0000768	Pectus carinatum	9839	ZEB2	OMIM:235730
HP:0000768	Pectus carinatum	9839	ZEB2	ORPHA:261552
HP:0000768	Pectus carinatum	9839	ZEB2	ORPHA:261537
HP:0000768	Pectus carinatum	1131	CHRM3	OMIM:100100
HP:0000768	Pectus carinatum	5352	PLOD2	OMIM:609220
HP:0000768	Pectus carinatum	4125	MAN2B1	ORPHA:309282
HP:0000768	Pectus carinatum	4125	MAN2B1	OMIM:248500
HP:0000768	Pectus carinatum	64412	GZF1	OMIM:617662
HP:0000768	Pectus carinatum	65082	VPS33A	OMIM:617303
HP:0000768	Pectus carinatum	65082	VPS33A	ORPHA:505248
HP:0000768	Pectus carinatum	2201	FBN2	OMIM:121050
HP:0000768	Pectus carinatum	6662	SOX9	OMIM:114290
HP:0000768	Pectus carinatum	25782	RAB3GAP2	OMIM:212720
HP:0000768	Pectus carinatum	4758	NEU1	ORPHA:812
HP:0000768	Pectus carinatum	57231	SNX14	ORPHA:397709
HP:0000768	Pectus carinatum	6926	TBX3	ORPHA:3138
HP:0000768	Pectus carinatum	6660	SOX5	ORPHA:313892
HP:0000768	Pectus carinatum	6660	SOX5	OMIM:616803
HP:0000768	Pectus carinatum	6197	RPS6KA3	OMIM:303600
HP:0000768	Pectus carinatum	6197	RPS6KA3	ORPHA:276630
HP:0000768	Pectus carinatum	6197	RPS6KA3	ORPHA:192
HP:0000768	Pectus carinatum	84572	GNPTG	OMIM:252605
HP:0000768	Pectus carinatum	137492	VPS37A	ORPHA:319199
HP:0000768	Pectus carinatum	137492	VPS37A	OMIM:614898
HP:0000768	Pectus carinatum	6023	RMRP	ORPHA:175
HP:0000768	Pectus carinatum	317662	FAM149B1	OMIM:618763
HP:0000768	Pectus carinatum	7345	UCHL1	OMIM:615491
HP:0000768	Pectus carinatum	284058	KANSL1	ORPHA:363958
HP:0000768	Pectus carinatum	284058	KANSL1	ORPHA:363965
HP:0000768	Pectus carinatum	55870	ASH1L	OMIM:617796
HP:0000768	Pectus carinatum	92579	G6PC3	OMIM:612541
HP:0000768	Pectus carinatum	114034	TOE1	OMIM:614969
HP:0000768	Pectus carinatum	64359	NXN	ORPHA:1507
HP:0000768	Pectus carinatum	4920	ROR2	ORPHA:1507
HP:0000768	Pectus carinatum	633	BGN	OMIM:300106
HP:0000768	Pectus carinatum	2200	FBN1	OMIM:604308
HP:0000768	Pectus carinatum	2200	FBN1	ORPHA:2462
HP:0000768	Pectus carinatum	2200	FBN1	ORPHA:284979
HP:0000768	Pectus carinatum	2200	FBN1	OMIM:154700
HP:0000768	Pectus carinatum	1954	MEGF8	OMIM:614976
HP:0000768	Pectus carinatum	649	BMP1	OMIM:614856
HP:0000768	Pectus carinatum	200734	SPRED2	OMIM:619745
HP:0000768	Pectus carinatum	200734	SPRED2	ORPHA:648
HP:0000768	Pectus carinatum	175	AGA	ORPHA:93
HP:0000768	Pectus carinatum	4853	NOTCH2	ORPHA:955
HP:0000768	Pectus carinatum	3265	HRAS	OMIM:218040
HP:0000768	Pectus carinatum	6911	TBX6	OMIM:122600
HP:0000768	Pectus carinatum	374654	KIF7	OMIM:607131
HP:0000768	Pectus carinatum	54	ACP5	ORPHA:1855
HP:0000768	Pectus carinatum	2335	FN1	OMIM:184255
HP:0000768	Pectus carinatum	2335	FN1	ORPHA:93315
HP:0000768	Pectus carinatum	59341	TRPV4	OMIM:184252
HP:0000768	Pectus carinatum	59341	TRPV4	ORPHA:93314
HP:0000768	Pectus carinatum	11285	B4GALT7	OMIM:130070
HP:0000768	Pectus carinatum	51114	ZDHHC9	OMIM:300799
HP:0000768	Pectus carinatum	65109	UPF3B	OMIM:300676
HP:0000768	Pectus carinatum	3572	IL6ST	OMIM:619750
HP:0000768	Pectus carinatum	1857	DVL3	ORPHA:3107
HP:0000768	Pectus carinatum	7474	WNT5A	ORPHA:3107
HP:0000768	Pectus carinatum	1855	DVL1	ORPHA:3107
HP:0000768	Pectus carinatum	2535	FZD2	ORPHA:3107
HP:0000768	Pectus carinatum	60	ACTB	ORPHA:64755
HP:0000768	Pectus carinatum	79759	ZNF668	OMIM:620194
HP:0000768	Pectus carinatum	4311	MME	ORPHA:497764
HP:0000768	Pectus carinatum	4311	MME	OMIM:617018
HP:0000768	Pectus carinatum	55210	ATAD3A	ORPHA:496790
HP:0000768	Pectus carinatum	55210	ATAD3A	OMIM:617183
HP:0000768	Pectus carinatum	6558	SLC12A2	OMIM:619080
HP:0000768	Pectus carinatum	9321	TRIP11	OMIM:184260
HP:0000768	Pectus carinatum	4982	TNFRSF11B	ORPHA:2801
HP:0000768	Pectus carinatum	8792	TNFRSF11A	ORPHA:2801
HP:0000768	Pectus carinatum	2542	SLC37A4	OMIM:619525
HP:0000768	Pectus carinatum	3187	HNRNPH1	OMIM:620083
HP:0000768	Pectus carinatum	4621	MYH3	OMIM:178110
HP:0000768	Pectus carinatum	2121	EVC	OMIM:225500
HP:0000768	Pectus carinatum	132884	EVC2	OMIM:225500
HP:0000768	Pectus carinatum	81031	SLC2A10	OMIM:208050
HP:0000768	Pectus carinatum	23483	TGDS	OMIM:616145
HP:0000768	Pectus carinatum	4088	SMAD3	OMIM:613795
HP:0000768	Pectus carinatum	4088	SMAD3	ORPHA:284984
HP:0000768	Pectus carinatum	6611	SMS	OMIM:309583
HP:0000768	Pectus carinatum	6611	SMS	ORPHA:3063
HP:0000768	Pectus carinatum	7048	TGFBR2	OMIM:610168
HP:0000768	Pectus carinatum	7048	TGFBR2	ORPHA:60030
HP:0000768	Pectus carinatum	7476	WNT7A	OMIM:276820
HP:0000768	Pectus carinatum	3339	HSPG2	OMIM:255800
HP:0000768	Pectus carinatum	3339	HSPG2	ORPHA:800
HP:0000768	Pectus carinatum	2317	FLNB	OMIM:272460
HP:0000768	Pectus carinatum	2317	FLNB	OMIM:150250
HP:0000768	Pectus carinatum	7046	TGFBR1	ORPHA:60030
HP:0000768	Pectus carinatum	10526	IPO8	ORPHA:60030
HP:0000768	Pectus carinatum	10526	IPO8	OMIM:619472
HP:0000768	Pectus carinatum	7227	TRPS1	OMIM:190350
HP:0000768	Pectus carinatum	7227	TRPS1	ORPHA:77258
HP:0000768	Pectus carinatum	2719	GPC3	OMIM:312870
HP:0000768	Pectus carinatum	2239	GPC4	OMIM:312870
HP:0000768	Pectus carinatum	6497	SKI	ORPHA:2462
HP:0000768	Pectus carinatum	6497	SKI	OMIM:182212
HP:0000768	Pectus carinatum	63895	PIEZO2	ORPHA:2461
HP:0000768	Pectus carinatum	2263	FGFR2	OMIM:101200
HP:0000768	Pectus carinatum	54808	DYM	ORPHA:239
HP:0000768	Pectus carinatum	54808	DYM	OMIM:223800
HP:0000768	Pectus carinatum	64132	XYLT2	OMIM:605822
HP:0000768	Pectus carinatum	4921	DDR2	OMIM:271665
HP:0000768	Pectus carinatum	9759	HDAC4	OMIM:619797
HP:0000768	Pectus carinatum	579	NKX3-2	OMIM:613330
HP:0000768	Pectus carinatum	8076	MFAP5	OMIM:616166
HP:0000768	Pectus carinatum	1305	COL13A1	OMIM:616720
HP:0000768	Pectus carinatum	1305	COL13A1	ORPHA:98914
HP:0000768	Pectus carinatum	9842	PLEKHM1	OMIM:618107
HP:0000768	Pectus carinatum	23363	OBSL1	OMIM:612921
HP:0000768	Pectus carinatum	256297	PTF1A	OMIM:609069
HP:0000768	Pectus carinatum	411	ARSB	OMIM:253200
HP:0000768	Pectus carinatum	650	BMP2	ORPHA:261295
HP:0000768	Pectus carinatum	1436	CSF1R	OMIM:618476
HP:0000768	Pectus carinatum	10525	HYOU1	OMIM:233600
HP:0000768	Pectus carinatum	2720	GLB1	ORPHA:79255
HP:0000768	Pectus carinatum	6904	TBCD	ORPHA:496641
HP:0000768	Pectus carinatum	3039	HBA1	ORPHA:98791
HP:0000768	Pectus carinatum	3040	HBA2	ORPHA:98791
HP:0000768	Pectus carinatum	3549	IHH	ORPHA:63446
HP:0000768	Pectus carinatum	3549	IHH	OMIM:607778
HP:0000768	Pectus carinatum	4998	ORC1	OMIM:224690
HP:0000768	Pectus carinatum	64131	XYLT1	OMIM:615777
HP:0000768	Pectus carinatum	29920	PYCR2	ORPHA:481152
HP:0000768	Pectus carinatum	259232	NALCN	OMIM:615419
HP:0000768	Pectus carinatum	7703	PCGF2	OMIM:618371
HP:0000768	Pectus carinatum	164	AP1G1	OMIM:619467
HP:0000768	Pectus carinatum	79576	NKAP	OMIM:301039
HP:0000768	Pectus carinatum	3188	HNRNPH2	OMIM:300986
HP:0000768	Pectus carinatum	1302	COL11A2	ORPHA:166100
HP:0000768	Pectus carinatum	64374	SIL1	ORPHA:559
HP:0000768	Pectus carinatum	51763	INPP5K	ORPHA:559
HP:0000768	Pectus carinatum	7138	TNNT1	OMIM:605355
HP:0000768	Pectus carinatum	7138	TNNT1	ORPHA:98902
HP:0000768	Pectus carinatum	3852	KRT5	OMIM:619599
HP:0000768	Pectus carinatum	94005	PIGS	OMIM:618143
HP:0000768	Pectus carinatum	2588	GALNS	OMIM:253000
HP:0000768	Pectus carinatum	23233	EXOC6B	ORPHA:93359
HP:0000768	Pectus carinatum	126792	B3GALT6	ORPHA:93359
HP:0000768	Pectus carinatum	126792	B3GALT6	ORPHA:536467
HP:0000768	Pectus carinatum	9894	TELO2	ORPHA:488642
HP:0000768	Pectus carinatum	490	ATP2B1	OMIM:619910
HP:0000768	Pectus carinatum	3845	KRAS	OMIM:609942
HP:0000768	Pectus carinatum	3845	KRAS	ORPHA:648
HP:0000768	Pectus carinatum	5894	RAF1	ORPHA:500
HP:0000768	Pectus carinatum	5894	RAF1	ORPHA:648
HP:0000768	Pectus carinatum	7343	UBTF	ORPHA:500180
HP:0000768	Pectus carinatum	51360	MBTPS2	OMIM:301014
HP:0000768	Pectus carinatum	8720	MBTPS1	OMIM:618392
HP:0000768	Pectus carinatum	25839	COG4	OMIM:618150
HP:0000768	Pectus carinatum	4617	MYF5	OMIM:618155
HP:0000768	Pectus carinatum	9373	PLAA	ORPHA:521426
HP:0000768	Pectus carinatum	9373	PLAA	OMIM:617527
HP:0000768	Pectus carinatum	60482	SLC5A7	ORPHA:98914
HP:0000768	Pectus carinatum	4649	MYO9A	ORPHA:98914
HP:0000768	Pectus carinatum	1103	CHAT	ORPHA:98914
HP:0000768	Pectus carinatum	6576	SLC25A1	ORPHA:98914
HP:0000768	Pectus carinatum	6843	VAMP1	ORPHA:98914
HP:0000768	Pectus carinatum	375790	AGRN	ORPHA:98914
HP:0000768	Pectus carinatum	127833	SYT2	ORPHA:98914
HP:0000768	Pectus carinatum	6572	SLC18A3	ORPHA:98914
HP:0000768	Pectus carinatum	6616	SNAP25	ORPHA:98914
HP:0000768	Pectus carinatum	5500	PPP1CB	OMIM:617506
HP:0000768	Pectus carinatum	54676	GTPBP2	OMIM:617988
HP:0000768	Pectus carinatum	60681	FKBP10	OMIM:259450
HP:0000768	Pectus carinatum	403	ARL3	OMIM:618161
HP:0000768	Pectus carinatum	2990	GUSB	OMIM:253220
HP:0000768	Pectus carinatum	203190	LGI3	OMIM:620007
HP:0000768	Pectus carinatum	92344	GORAB	ORPHA:2078
HP:0000768	Pectus carinatum	5831	PYCR1	ORPHA:2078
HP:0000768	Pectus carinatum	22800	RRAS2	ORPHA:648
HP:0000768	Pectus carinatum	867	CBL	ORPHA:648
HP:0000768	Pectus carinatum	6016	RIT1	ORPHA:648
HP:0000768	Pectus carinatum	6237	RRAS	ORPHA:648
HP:0000768	Pectus carinatum	22808	MRAS	ORPHA:648
HP:0000768	Pectus carinatum	4893	NRAS	ORPHA:648
HP:0000768	Pectus carinatum	6654	SOS1	ORPHA:648
HP:0000768	Pectus carinatum	6655	SOS2	ORPHA:648
HP:0000768	Pectus carinatum	5922	RASA2	ORPHA:648
HP:0000768	Pectus carinatum	5479	PPIB	OMIM:259440
HP:0000768	Pectus carinatum	9469	CHST3	OMIM:245600
HP:0000768	Pectus carinatum	26229	B3GAT3	OMIM:245600
HP:0000768	Pectus carinatum	129285	PPP1R21	OMIM:619383
HP:0000768	Pectus carinatum	83452	RAB33B	OMIM:615222
HP:0000768	Pectus carinatum	92935	MARS2	OMIM:616430
HP:0000768	Pectus carinatum	7043	TGFB3	OMIM:615582
HP:0000768	Pectus carinatum	121340	SP7	OMIM:613849
HP:0000768	Pectus carinatum	4763	NF1	OMIM:601321
HP:0000768	Pectus carinatum	5604	MAP2K1	OMIM:163950
HP:0000768	Pectus carinatum	5781	PTPN11	OMIM:163950
HP:0000768	Pectus carinatum	673	BRAF	OMIM:163950
HP:0006640	Multiple rib fractures	202018	TAPT1	OMIM:616897
HP:0006640	Multiple rib fractures	10491	CRTAP	OMIM:610682
HP:0006640	Multiple rib fractures	8792	TNFRSF11A	OMIM:612301
HP:0006640	Multiple rib fractures	90993	CREB3L1	OMIM:616229
HP:0006640	Multiple rib fractures	9321	TRIP11	ORPHA:93299
HP:0006640	Multiple rib fractures	871	SERPINH1	OMIM:613848
HP:0006641	Prominent floating ribs	760	CA2	ORPHA:2785
HP:0006642	Large sternal ossification centers	4784	NFIX	OMIM:602535
HP:0006643	Fused sternal ossification centers	10225	CD96	OMIM:211750
HP:0006644	Thoracic dysplasia	89891	DYNC2I2	OMIM:615633
HP:0006644	Thoracic dysplasia	26160	IFT172	OMIM:615630
HP:0006644	Thoracic dysplasia	57728	WDR19	OMIM:614376
HP:0006644	Thoracic dysplasia	57539	WDR35	OMIM:614091
HP:0006644	Thoracic dysplasia	55112	DYNC2I1	OMIM:615503
HP:0006644	Thoracic dysplasia	4750	NEK1	OMIM:263520
HP:0006645	Thin clavicles	4000	LMNA	ORPHA:1662
HP:0006645	Thin clavicles	10269	ZMPSTE24	ORPHA:1662
HP:0006645	Thin clavicles	10269	ZMPSTE24	OMIM:275210
HP:0006645	Thin clavicles	5116	PCNT	OMIM:210720
HP:0006645	Thin clavicles	6905	TBCE	OMIM:244460
HP:0006645	Thin clavicles	6905	TBCE	ORPHA:93324
HP:0006645	Thin clavicles	1301	COL11A1	OMIM:228520
HP:0006645	Thin clavicles	55733	HHAT	OMIM:600092
HP:0006646	Costal cartilage calcification	3930	LBR	OMIM:215140
HP:0006646	Costal cartilage calcification	1836	SLC26A2	OMIM:222600
HP:0006646	Costal cartilage calcification	4256	MGP	OMIM:245150
HP:0100923	Clavicular sclerosis	4041	LRP5	ORPHA:2790
HP:0100923	Clavicular sclerosis	4041	LRP5	OMIM:144750
HP:0100923	Clavicular sclerosis	79705	LRRK1	OMIM:615198
HP:0006649	Costochondral pain	10861	SLC26A1	OMIM:620372
HP:0032506	Alien limb phenomenon	773	CACNA1A	ORPHA:569
HP:0032506	Alien limb phenomenon	112476	PRRT2	ORPHA:569
HP:0032506	Alien limb phenomenon	6323	SCN1A	ORPHA:569
HP:0032506	Alien limb phenomenon	477	ATP1A2	ORPHA:569
HP:0032508	Polyembolokoilamania	10743	RAI1	OMIM:182290
HP:0032509	Onychotillomania	10743	RAI1	OMIM:182290
HP:0006659	Internally rotated shoulders	163175	LGI4	OMIM:617468
HP:0006659	Internally rotated shoulders	2783	GNB2	OMIM:619503
HP:0006650	Thickening of the lateral border of the scapula	4010	LMX1B	OMIM:161200
HP:0002557	Hypoplastic nipples	23476	BRD4	ORPHA:199
HP:0002557	Hypoplastic nipples	9126	SMC3	ORPHA:199
HP:0002557	Hypoplastic nipples	8243	SMC1A	ORPHA:199
HP:0002557	Hypoplastic nipples	25836	NIPBL	ORPHA:199
HP:0002557	Hypoplastic nipples	25836	NIPBL	OMIM:122470
HP:0002557	Hypoplastic nipples	55869	HDAC8	ORPHA:199
HP:0002557	Hypoplastic nipples	5885	RAD21	ORPHA:199
HP:0002557	Hypoplastic nipples	64840	PORCN	OMIM:305600
HP:0002557	Hypoplastic nipples	57003	CCDC47	OMIM:618268
HP:0002557	Hypoplastic nipples	5792	PTPRF	OMIM:616001
HP:0002557	Hypoplastic nipples	23135	KDM6B	OMIM:618505
HP:0002557	Hypoplastic nipples	29957	SLC25A24	OMIM:612289
HP:0002557	Hypoplastic nipples	117581	TWIST2	OMIM:209885
HP:0002557	Hypoplastic nipples	117581	TWIST2	OMIM:200110
HP:0002557	Hypoplastic nipples	117581	TWIST2	ORPHA:1231
HP:0002557	Hypoplastic nipples	8239	USP9X	ORPHA:480880
HP:0002557	Hypoplastic nipples	5828	PEX2	OMIM:614866
HP:0002557	Hypoplastic nipples	128178	EDARADD	OMIM:614941
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:604292
HP:0002557	Hypoplastic nipples	8626	TP63	ORPHA:978
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:103285
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:603543
HP:0002557	Hypoplastic nipples	8626	TP63	ORPHA:69085
HP:0002557	Hypoplastic nipples	8085	KMT2D	OMIM:620186
HP:0002557	Hypoplastic nipples	79796	ALG9	ORPHA:79328
HP:0002557	Hypoplastic nipples	4247	MGAT2	ORPHA:79329
HP:0002557	Hypoplastic nipples	197131	UBR1	OMIM:243800
HP:0002557	Hypoplastic nipples	203068	TUBB	OMIM:156610
HP:0002557	Hypoplastic nipples	388015	RTL1	ORPHA:96334
HP:0002557	Hypoplastic nipples	8788	DLK1	ORPHA:96334
HP:0002557	Hypoplastic nipples	55384	MEG3	ORPHA:96334
HP:0002557	Hypoplastic nipples	6926	TBX3	ORPHA:3138
HP:0002557	Hypoplastic nipples	6926	TBX3	OMIM:181450
HP:0002557	Hypoplastic nipples	1146	CHRNG	OMIM:265000
HP:0002557	Hypoplastic nipples	1896	EDA	OMIM:305100
HP:0002557	Hypoplastic nipples	56992	KIF15	ORPHA:261323
HP:0002557	Hypoplastic nipples	10020	GNE	OMIM:269921
HP:0002557	Hypoplastic nipples	9487	PIGL	OMIM:280000
HP:0002557	Hypoplastic nipples	84168	ANTXR1	OMIM:230740
HP:0002557	Hypoplastic nipples	7476	WNT7A	OMIM:276820
HP:0002557	Hypoplastic nipples	3858	KRT10	OMIM:609165
HP:0002557	Hypoplastic nipples	9896	FIG4	OMIM:216340
HP:0002557	Hypoplastic nipples	1954	MEGF8	OMIM:614976
HP:0002557	Hypoplastic nipples	79633	FAT4	OMIM:615546
HP:0002557	Hypoplastic nipples	8517	IKBKG	OMIM:308300
HP:0002557	Hypoplastic nipples	26040	SETBP1	OMIM:269150
HP:0006655	Rib segmentation abnormalities	134701	RIPPLY2	ORPHA:2311
HP:0006655	Rib segmentation abnormalities	10683	DLL3	ORPHA:2311
HP:0006655	Rib segmentation abnormalities	3955	LFNG	ORPHA:2311
HP:0006655	Rib segmentation abnormalities	84667	HES7	ORPHA:2311
HP:0006655	Rib segmentation abnormalities	145873	MESP2	ORPHA:2311
HP:0006655	Rib segmentation abnormalities	10815	CPLX1	ORPHA:280
HP:0006655	Rib segmentation abnormalities	10815	CPLX1	OMIM:194190
HP:0006655	Rib segmentation abnormalities	54872	PIGG	ORPHA:280
HP:0006655	Rib segmentation abnormalities	7469	NELFA	ORPHA:280
HP:0006655	Rib segmentation abnormalities	1487	CTBP1	ORPHA:280
HP:0006655	Rib segmentation abnormalities	1487	CTBP1	OMIM:194190
HP:0006655	Rib segmentation abnormalities	3954	LETM1	ORPHA:280
HP:0006655	Rib segmentation abnormalities	3954	LETM1	OMIM:194190
HP:0006655	Rib segmentation abnormalities	7468	NSD2	ORPHA:280
HP:0006655	Rib segmentation abnormalities	7468	NSD2	OMIM:194190
HP:0006655	Rib segmentation abnormalities	53834	FGFRL1	OMIM:194190
HP:0032510	Tendon pain	2131	EXT1	ORPHA:321
HP:0032510	Tendon pain	2132	EXT2	ORPHA:321
HP:0006660	Aplastic clavicle	9896	FIG4	OMIM:216340
HP:0006660	Aplastic clavicle	538	ATP7A	ORPHA:198
HP:0006660	Aplastic clavicle	860	RUNX2	OMIM:119600
HP:0006660	Aplastic clavicle	5745	PTH1R	ORPHA:50945
HP:0006660	Aplastic clavicle	1513	CTSK	OMIM:265800
HP:0006660	Aplastic clavicle	9786	KIAA0586	OMIM:616546
HP:0006660	Aplastic clavicle	9791	PTDSS1	ORPHA:2658
HP:0006660	Aplastic clavicle	100151683	RNU4ATAC	ORPHA:2636
HP:0006660	Aplastic clavicle	9487	PIGL	ORPHA:3474
HP:0006660	Aplastic clavicle	57167	SALL4	ORPHA:2307
HP:0006660	Aplastic clavicle	81620	CDT1	ORPHA:2554
HP:0006660	Aplastic clavicle	5000	ORC4	ORPHA:2554
HP:0006660	Aplastic clavicle	23594	ORC6	ORPHA:2554
HP:0006660	Aplastic clavicle	8318	CDC45	ORPHA:2554
HP:0006660	Aplastic clavicle	990	CDC6	ORPHA:2554
HP:0006660	Aplastic clavicle	4998	ORC1	ORPHA:2554
HP:0006660	Aplastic clavicle	51053	GMNN	ORPHA:2554
HP:0006660	Aplastic clavicle	865	CBFB	OMIM:620099
HP:0032514	Duplicated lacrimal punctum	668	FOXL2	ORPHA:572333
HP:0032515	Deep dermatophytosis	64170	CARD9	OMIM:212050
HP:0032516	Invasive dermatophyte infection	64170	CARD9	OMIM:212050
HP:0200021	Down-sloping shoulders	1146	CHRNG	OMIM:265000
HP:0200021	Down-sloping shoulders	1947	EFNB1	OMIM:304110
HP:0200021	Down-sloping shoulders	1947	EFNB1	ORPHA:1520
HP:0200021	Down-sloping shoulders	538	ATP7A	ORPHA:198
HP:0200021	Down-sloping shoulders	6910	TBX5	ORPHA:392
HP:0200021	Down-sloping shoulders	8260	NAA10	OMIM:309800
HP:0200021	Down-sloping shoulders	54880	BCOR	OMIM:309800
HP:0200021	Down-sloping shoulders	63895	PIEZO2	OMIM:114300
HP:0200021	Down-sloping shoulders	83932	SPRTN	OMIM:616200
HP:0200021	Down-sloping shoulders	92255	LMBRD2	OMIM:619694
HP:0200021	Down-sloping shoulders	10265	IRX5	OMIM:611174
HP:0200021	Down-sloping shoulders	51633	OTUD6B	OMIM:617452
HP:0200021	Down-sloping shoulders	59341	TRPV4	OMIM:606071
HP:0200021	Down-sloping shoulders	6804	STX1A	ORPHA:904
HP:0200021	Down-sloping shoulders	7461	CLIP2	ORPHA:904
HP:0200021	Down-sloping shoulders	84277	DNAJC30	ORPHA:904
HP:0200021	Down-sloping shoulders	8468	FKBP6	ORPHA:904
HP:0200021	Down-sloping shoulders	5982	RFC2	ORPHA:904
HP:0200021	Down-sloping shoulders	2969	GTF2I	ORPHA:904
HP:0200021	Down-sloping shoulders	3984	LIMK1	ORPHA:904
HP:0200021	Down-sloping shoulders	9569	GTF2IRD1	ORPHA:904
HP:0200021	Down-sloping shoulders	155382	VPS37D	ORPHA:904
HP:0200021	Down-sloping shoulders	155368	METTL27	ORPHA:904
HP:0200021	Down-sloping shoulders	114049	BUD23	ORPHA:904
HP:0200021	Down-sloping shoulders	7458	EIF4H	ORPHA:904
HP:0200021	Down-sloping shoulders	84163	GTF2IRD2	ORPHA:904
HP:0200021	Down-sloping shoulders	9275	BCL7B	ORPHA:904
HP:0200021	Down-sloping shoulders	26608	TBL2	ORPHA:904
HP:0200021	Down-sloping shoulders	653361	NCF1	ORPHA:904
HP:0200021	Down-sloping shoulders	135886	TMEM270	ORPHA:904
HP:0200021	Down-sloping shoulders	51085	MLXIPL	ORPHA:904
HP:0200021	Down-sloping shoulders	51085	MLXIPL	OMIM:194050
HP:0200021	Down-sloping shoulders	9031	BAZ1B	ORPHA:904
HP:0200021	Down-sloping shoulders	2006	ELN	ORPHA:904
HP:0200021	Down-sloping shoulders	2006	ELN	OMIM:194050
HP:0200021	Down-sloping shoulders	4000	LMNA	OMIM:212112
HP:0200021	Down-sloping shoulders	4000	LMNA	OMIM:248370
HP:0200021	Down-sloping shoulders	2138	EYA1	ORPHA:2792
HP:0200021	Down-sloping shoulders	2138	EYA1	OMIM:166780
HP:0200021	Down-sloping shoulders	5075	PAX1	ORPHA:2792
HP:0200021	Down-sloping shoulders	5075	PAX1	OMIM:615560
HP:0200021	Down-sloping shoulders	9896	FIG4	OMIM:216340
HP:0200021	Down-sloping shoulders	860	RUNX2	ORPHA:1452
HP:0200021	Down-sloping shoulders	55636	CHD7	OMIM:214800
HP:0200021	Down-sloping shoulders	8450	CUL4B	ORPHA:85293
HP:0200021	Down-sloping shoulders	84919	PPP1R15B	OMIM:616817
HP:0200021	Down-sloping shoulders	84919	PPP1R15B	ORPHA:391408
HP:0200021	Down-sloping shoulders	93587	TRMT10A	ORPHA:391408
HP:0200021	Down-sloping shoulders	865	CBFB	OMIM:620099
HP:0200021	Down-sloping shoulders	5727	PTCH1	OMIM:109400
HP:0200021	Down-sloping shoulders	2556	GABRA3	OMIM:301091
HP:0006665	Coat hanger sign of ribs	2316	FLNA	OMIM:305620
HP:0006665	Coat hanger sign of ribs	388015	RTL1	ORPHA:254534
HP:0006665	Coat hanger sign of ribs	388015	RTL1	ORPHA:96334
HP:0006665	Coat hanger sign of ribs	388015	RTL1	ORPHA:254528
HP:0006665	Coat hanger sign of ribs	8788	DLK1	ORPHA:254534
HP:0006665	Coat hanger sign of ribs	8788	DLK1	ORPHA:96334
HP:0006665	Coat hanger sign of ribs	8788	DLK1	ORPHA:254528
HP:0006665	Coat hanger sign of ribs	55384	MEG3	ORPHA:254534
HP:0006665	Coat hanger sign of ribs	55384	MEG3	ORPHA:96334
HP:0006665	Coat hanger sign of ribs	55384	MEG3	ORPHA:254528
HP:0006668	Twelfth rib hypoplasia	79848	CSPP1	ORPHA:397715
HP:0006668	Twelfth rib hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0032521	Self hugging	10743	RAI1	OMIM:182290
HP:0032523	Tendon thickening	3848	KRT1	ORPHA:530838
HP:0032524	Long thumb	5745	PTH1R	OMIM:600002
HP:0032524	Long thumb	128	ADH5	OMIM:619151
HP:0032524	Long thumb	57465	TBC1D24	OMIM:220500
HP:0032524	Long thumb	3782	KCNN3	OMIM:618658
HP:0032524	Long thumb	4883	NPR3	OMIM:619543
HP:0032524	Long thumb	23522	KAT6B	OMIM:603736
HP:0032524	Long thumb	9968	MED12	OMIM:300895
HP:0032527	Inferiorly positioned umbilicus	54101	RIPK4	OMIM:263650
HP:0032528	Elevated urinary 4-hydroxybutyric acid	4716	NDUFB10	OMIM:619003
HP:0032528	Elevated urinary 4-hydroxybutyric acid	7915	ALDH5A1	OMIM:271980
HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	54532	USP53	OMIM:619658
HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	7915	ALDH5A1	OMIM:271980
HP:0006670	Impaired myocardial contractility	57538	ALPK3	OMIM:618052
HP:0006670	Impaired myocardial contractility	6329	SCN4A	ORPHA:681
HP:0006670	Impaired myocardial contractility	779	CACNA1S	ORPHA:681
HP:0006670	Impaired myocardial contractility	779	CACNA1S	ORPHA:79102
HP:0006670	Impaired myocardial contractility	10008	KCNE3	ORPHA:681
HP:0006670	Impaired myocardial contractility	10060	ABCC9	OMIM:608569
HP:0006670	Impaired myocardial contractility	1832	DSP	ORPHA:158687
HP:0006670	Impaired myocardial contractility	3728	JUP	ORPHA:158687
HP:0006670	Impaired myocardial contractility	100134444	KCNJ18	ORPHA:79102
HP:0006670	Impaired myocardial contractility	2556	GABRA3	ORPHA:79102
HP:0006670	Impaired myocardial contractility	8048	CSRP3	OMIM:607482
HP:0006671	Paroxysmal atrial tachycardia	10560	SLC19A2	ORPHA:49827
HP:0006671	Paroxysmal atrial tachycardia	161742	SPRED1	ORPHA:137605
HP:0001678	Atrioventricular block	51422	PRKAG2	OMIM:600858
HP:0001678	Atrioventricular block	2879	GPX4	ORPHA:93317
HP:0001678	Atrioventricular block	4519	MT-CYB	ORPHA:137675
HP:0001678	Atrioventricular block	189	AGXT	OMIM:259900
HP:0001678	Atrioventricular block	788	SLC25A20	OMIM:212138
HP:0001678	Atrioventricular block	6262	RYR2	OMIM:604772
HP:0001678	Atrioventricular block	845	CASQ2	OMIM:604772
HP:0001678	Atrioventricular block	10345	TRDN	OMIM:604772
HP:0001678	Atrioventricular block	2717	GLA	ORPHA:324
HP:0001678	Atrioventricular block	2273	FHL1	ORPHA:98863
HP:0001678	Atrioventricular block	4313	MMP2	ORPHA:371428
HP:0001678	Atrioventricular block	4323	MMP14	ORPHA:371428
HP:0001678	Atrioventricular block	6330	SCN4B	OMIM:611819
HP:0001678	Atrioventricular block	37	ACADVL	ORPHA:26793
HP:0001678	Atrioventricular block	7276	TTR	ORPHA:85447
HP:0001678	Atrioventricular block	2318	FLNC	OMIM:617047
HP:0001678	Atrioventricular block	2783	GNB2	OMIM:619464
HP:0001678	Atrioventricular block	3762	KCNJ5	OMIM:613485
HP:0001678	Atrioventricular block	88	ACTN2	OMIM:612158
HP:0001678	Atrioventricular block	3759	KCNJ2	ORPHA:51083
HP:0001678	Atrioventricular block	3784	KCNQ1	ORPHA:51083
HP:0001678	Atrioventricular block	3757	KCNH2	ORPHA:51083
HP:0001678	Atrioventricular block	6508	SLC4A3	ORPHA:51083
HP:0001678	Atrioventricular block	7273	TTN	OMIM:604145
HP:0001678	Atrioventricular block	7273	TTN	OMIM:611705
HP:0001678	Atrioventricular block	79188	TMEM43	ORPHA:98853
HP:0001678	Atrioventricular block	23345	SYNE1	ORPHA:98853
HP:0001678	Atrioventricular block	23224	SYNE2	ORPHA:98853
HP:0001678	Atrioventricular block	2902	GRIN1	OMIM:619814
HP:0001678	Atrioventricular block	5593	PRKG2	OMIM:619636
HP:0001678	Atrioventricular block	4635	MYL4	OMIM:617280
HP:0001678	Atrioventricular block	4509	MT-ATP8	ORPHA:480
HP:0001678	Atrioventricular block	4567	MT-TL1	ORPHA:480
HP:0001678	Atrioventricular block	50484	RRM2B	ORPHA:480
HP:0001678	Atrioventricular block	5781	PTPN11	OMIM:151100
HP:0001678	Atrioventricular block	1674	DES	OMIM:601419
HP:0001678	Atrioventricular block	4000	LMNA	OMIM:115200
HP:0001678	Atrioventricular block	50619	DEF6	OMIM:619573
HP:0001678	Atrioventricular block	7092	TLL1	ORPHA:99103
HP:0001678	Atrioventricular block	7092	TLL1	ORPHA:99106
HP:0001678	Atrioventricular block	57057	TBX20	ORPHA:99103
HP:0001678	Atrioventricular block	4624	MYH6	ORPHA:99103
HP:0001678	Atrioventricular block	1482	NKX2-5	ORPHA:99103
HP:0001678	Atrioventricular block	70	ACTC1	ORPHA:99103
HP:0001678	Atrioventricular block	10370	CITED2	ORPHA:99103
HP:0001678	Atrioventricular block	10370	CITED2	ORPHA:99105
HP:0001678	Atrioventricular block	2626	GATA4	ORPHA:99103
HP:0001678	Atrioventricular block	2627	GATA6	ORPHA:99103
HP:0001678	Atrioventricular block	2702	GJA5	OMIM:108770
HP:0001678	Atrioventricular block	23630	KCNE5	ORPHA:130
HP:0001678	Atrioventricular block	10371	SEMA3A	ORPHA:130
HP:0001678	Atrioventricular block	54795	TRPM4	ORPHA:130
HP:0001678	Atrioventricular block	10021	HCN4	ORPHA:130
HP:0001678	Atrioventricular block	3764	KCNJ8	ORPHA:130
HP:0001678	Atrioventricular block	3752	KCND3	ORPHA:130
HP:0001678	Atrioventricular block	5318	PKP2	ORPHA:130
HP:0001678	Atrioventricular block	7871	SLMAP	ORPHA:130
HP:0001678	Atrioventricular block	10060	ABCC9	ORPHA:130
HP:0001678	Atrioventricular block	29098	RANGRF	ORPHA:130
HP:0001678	Atrioventricular block	6336	SCN10A	ORPHA:130
HP:0001678	Atrioventricular block	10008	KCNE3	ORPHA:130
HP:0001678	Atrioventricular block	55800	SCN3B	ORPHA:130
HP:0001678	Atrioventricular block	10142	AKAP9	ORPHA:130
HP:0001678	Atrioventricular block	783	CACNB2	ORPHA:130
HP:0001678	Atrioventricular block	6337	SCNN1A	ORPHA:130
HP:0001678	Atrioventricular block	6327	SCN2B	ORPHA:130
HP:0001678	Atrioventricular block	781	CACNA2D1	ORPHA:130
HP:0001678	Atrioventricular block	775	CACNA1C	ORPHA:130
HP:0001678	Atrioventricular block	6324	SCN1B	ORPHA:130
HP:0001678	Atrioventricular block	6331	SCN5A	ORPHA:130
HP:0001678	Atrioventricular block	23171	GPD1L	ORPHA:130
HP:0001678	Atrioventricular block	23171	GPD1L	OMIM:611777
HP:0001678	Atrioventricular block	1837	DTNA	OMIM:604169
HP:0001678	Atrioventricular block	1760	DMPK	ORPHA:589821
HP:0001678	Atrioventricular block	1760	DMPK	OMIM:160900
HP:0001678	Atrioventricular block	6910	TBX5	ORPHA:392
HP:0001678	Atrioventricular block	4607	MYBPC3	OMIM:115197
HP:0001678	Atrioventricular block	5663	PSEN1	OMIM:613694
HP:0001678	Atrioventricular block	3777	KCNK3	OMIM:615344
HP:0001678	Atrioventricular block	5664	PSEN2	OMIM:613697
HP:0001678	Atrioventricular block	84665	MYPN	OMIM:617336
HP:0001678	Atrioventricular block	29119	CTNNA3	OMIM:615616
HP:0001678	Atrioventricular block	2010	EMD	OMIM:310300
HP:0001678	Atrioventricular block	83475	DOHH	OMIM:620066
HP:0001678	Atrioventricular block	11149	BVES	OMIM:616812
HP:0001678	Atrioventricular block	7716	VEZF1	OMIM:620247
HP:0001678	Atrioventricular block	23395	LARS2	OMIM:617021
HP:0001678	Atrioventricular block	3920	LAMP2	OMIM:300257
HP:0001678	Atrioventricular block	776	CACNA1D	ORPHA:369929
HP:0001678	Atrioventricular block	776	CACNA1D	OMIM:615474
HP:0001678	Atrioventricular block	8318	CDC45	OMIM:617063
HP:0001678	Atrioventricular block	100134444	KCNJ18	ORPHA:79102
HP:0001678	Atrioventricular block	2556	GABRA3	ORPHA:79102
HP:0001678	Atrioventricular block	779	CACNA1S	ORPHA:79102
HP:0001678	Atrioventricular block	808	CALM3	OMIM:618782
HP:0001678	Atrioventricular block	4878	NPPA	ORPHA:1344
HP:0001678	Atrioventricular block	805	CALM2	OMIM:616249
HP:0001678	Atrioventricular block	801	CALM1	OMIM:616247
HP:0006673	Reduced systolic function	57538	ALPK3	OMIM:618052
HP:0006673	Reduced systolic function	6329	SCN4A	ORPHA:681
HP:0006673	Reduced systolic function	779	CACNA1S	ORPHA:681
HP:0006673	Reduced systolic function	779	CACNA1S	ORPHA:79102
HP:0006673	Reduced systolic function	10008	KCNE3	ORPHA:681
HP:0006673	Reduced systolic function	10060	ABCC9	OMIM:608569
HP:0006673	Reduced systolic function	1832	DSP	ORPHA:158687
HP:0006673	Reduced systolic function	3728	JUP	ORPHA:158687
HP:0006673	Reduced systolic function	100134444	KCNJ18	ORPHA:79102
HP:0006673	Reduced systolic function	2556	GABRA3	ORPHA:79102
HP:0006673	Reduced systolic function	8048	CSRP3	OMIM:607482
HP:0006673	Reduced systolic function	6331	SCN5A	OMIM:601154
HP:0006673	Reduced systolic function	57158	JPH2	OMIM:619492
HP:0006673	Reduced systolic function	26007	TKFC	OMIM:618805
HP:0006673	Reduced systolic function	1674	DES	OMIM:604765
HP:0006673	Reduced systolic function	55679	LIMS2	OMIM:616827
HP:0006673	Reduced systolic function	6262	RYR2	OMIM:604772
HP:0006673	Reduced systolic function	845	CASQ2	OMIM:604772
HP:0006673	Reduced systolic function	10345	TRDN	OMIM:604772
HP:0006673	Reduced systolic function	6444	SGCD	OMIM:606685
HP:0006673	Reduced systolic function	5350	PLN	OMIM:609909
HP:0006673	Reduced systolic function	84665	MYPN	ORPHA:171881
HP:0006673	Reduced systolic function	7169	TPM2	ORPHA:171881
HP:0006673	Reduced systolic function	7170	TPM3	ORPHA:171881
HP:0010316	Ebstein anomaly of the tricuspid valve	57158	JPH2	OMIM:619492
HP:0010316	Ebstein anomaly of the tricuspid valve	7528	YY1	ORPHA:506358
HP:0010316	Ebstein anomaly of the tricuspid valve	4841	NONO	ORPHA:466791
HP:0010316	Ebstein anomaly of the tricuspid valve	4625	MYH7	ORPHA:1880
HP:0010316	Ebstein anomaly of the tricuspid valve	4625	MYH7	OMIM:613426
HP:0010316	Ebstein anomaly of the tricuspid valve	2623	GATA1	OMIM:190685
HP:0010316	Ebstein anomaly of the tricuspid valve	7168	TPM1	OMIM:611878
HP:0010316	Ebstein anomaly of the tricuspid valve	158326	FREM1	OMIM:608980
HP:0006705	Abnormal atrioventricular valve morphology	79158	GNPTAB	ORPHA:576
HP:0006705	Abnormal atrioventricular valve morphology	7092	TLL1	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	57057	TBX20	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	4624	MYH6	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	70	ACTC1	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	10370	CITED2	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	2626	GATA4	ORPHA:99103
HP:0006705	Abnormal atrioventricular valve morphology	64132	XYLT2	OMIM:605822
HP:0006705	Abnormal atrioventricular valve morphology	64132	XYLT2	OMIM:264800
HP:0006705	Abnormal atrioventricular valve morphology	2137	EXTL3	ORPHA:508533
HP:0006705	Abnormal atrioventricular valve morphology	57190	SELENON	ORPHA:324604
HP:0006705	Abnormal atrioventricular valve morphology	7273	TTN	ORPHA:324604
HP:0006705	Abnormal atrioventricular valve morphology	8216	LZTR1	OMIM:616564
HP:0006705	Abnormal atrioventricular valve morphology	9158	FIBP	ORPHA:500095
HP:0006705	Abnormal atrioventricular valve morphology	9158	FIBP	OMIM:617107
HP:0006705	Abnormal atrioventricular valve morphology	8076	MFAP5	OMIM:616166
HP:0006705	Abnormal atrioventricular valve morphology	84627	ZNF469	OMIM:229200
HP:0006705	Abnormal atrioventricular valve morphology	84627	ZNF469	ORPHA:90354
HP:0006705	Abnormal atrioventricular valve morphology	7148	TNXB	ORPHA:230839
HP:0006705	Abnormal atrioventricular valve morphology	7148	TNXB	OMIM:606408
HP:0006705	Abnormal atrioventricular valve morphology	2972	BRF1	OMIM:616202
HP:0006705	Abnormal atrioventricular valve morphology	2972	BRF1	ORPHA:444072
HP:0006705	Abnormal atrioventricular valve morphology	23394	ADNP	OMIM:615873
HP:0006705	Abnormal atrioventricular valve morphology	5428	POLG	OMIM:258450
HP:0006705	Abnormal atrioventricular valve morphology	5428	POLG	OMIM:607459
HP:0006705	Abnormal atrioventricular valve morphology	10021	HCN4	OMIM:163800
HP:0006705	Abnormal atrioventricular valve morphology	55315	SLC29A3	OMIM:602782
HP:0006705	Abnormal atrioventricular valve morphology	4054	LTBP3	OMIM:601216
HP:0006705	Abnormal atrioventricular valve morphology	1278	COL1A2	ORPHA:230851
HP:0006705	Abnormal atrioventricular valve morphology	1278	COL1A2	OMIM:225320
HP:0006705	Abnormal atrioventricular valve morphology	2201	FBN2	OMIM:121050
HP:0006705	Abnormal atrioventricular valve morphology	2201	FBN2	ORPHA:115
HP:0006705	Abnormal atrioventricular valve morphology	10216	PRG4	ORPHA:2848
HP:0006705	Abnormal atrioventricular valve morphology	1281	COL3A1	OMIM:130050
HP:0006705	Abnormal atrioventricular valve morphology	1281	COL3A1	ORPHA:286
HP:0006705	Abnormal atrioventricular valve morphology	51726	DNAJB11	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	23193	GANAB	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	5310	PKD1	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	5310	PKD1	OMIM:173900
HP:0006705	Abnormal atrioventricular valve morphology	5311	PKD2	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	29880	ALG5	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	9742	IFT140	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	79796	ALG9	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	80114	BICC1	ORPHA:730
HP:0006705	Abnormal atrioventricular valve morphology	3074	HEXB	ORPHA:309155
HP:0006705	Abnormal atrioventricular valve morphology	2332	FMR1	ORPHA:449291
HP:0006705	Abnormal atrioventricular valve morphology	2332	FMR1	OMIM:300624
HP:0006705	Abnormal atrioventricular valve morphology	2332	FMR1	ORPHA:908
HP:0006705	Abnormal atrioventricular valve morphology	8642	DCHS1	OMIM:607829
HP:0006705	Abnormal atrioventricular valve morphology	84665	MYPN	ORPHA:171881
HP:0006705	Abnormal atrioventricular valve morphology	7169	TPM2	ORPHA:171881
HP:0006705	Abnormal atrioventricular valve morphology	7170	TPM3	ORPHA:171881
HP:0006705	Abnormal atrioventricular valve morphology	165	AEBP1	OMIM:618000
HP:0006705	Abnormal atrioventricular valve morphology	165	AEBP1	ORPHA:536532
HP:0006705	Abnormal atrioventricular valve morphology	54880	BCOR	ORPHA:2712
HP:0006705	Abnormal atrioventricular valve morphology	54880	BCOR	OMIM:300166
HP:0006705	Abnormal atrioventricular valve morphology	9968	MED12	ORPHA:93932
HP:0006705	Abnormal atrioventricular valve morphology	29940	DSE	OMIM:615539
HP:0006705	Abnormal atrioventricular valve morphology	5351	PLOD1	ORPHA:1900
HP:0006705	Abnormal atrioventricular valve morphology	157680	VPS13B	OMIM:216550
HP:0006705	Abnormal atrioventricular valve morphology	157680	VPS13B	ORPHA:193
HP:0006705	Abnormal atrioventricular valve morphology	4313	MMP2	ORPHA:371428
HP:0006705	Abnormal atrioventricular valve morphology	4313	MMP2	OMIM:259600
HP:0006705	Abnormal atrioventricular valve morphology	4323	MMP14	ORPHA:371428
HP:0006705	Abnormal atrioventricular valve morphology	3265	HRAS	ORPHA:3071
HP:0006705	Abnormal atrioventricular valve morphology	3265	HRAS	OMIM:218040
HP:0006705	Abnormal atrioventricular valve morphology	56776	FMN2	OMIM:616193
HP:0006705	Abnormal atrioventricular valve morphology	26278	SACS	ORPHA:98
HP:0006705	Abnormal atrioventricular valve morphology	4763	NF1	ORPHA:363700
HP:0006705	Abnormal atrioventricular valve morphology	633	BGN	OMIM:300989
HP:0006705	Abnormal atrioventricular valve morphology	3188	HNRNPH2	OMIM:300986
HP:0006705	Abnormal atrioventricular valve morphology	1280	COL2A1	ORPHA:90653
HP:0006705	Abnormal atrioventricular valve morphology	1280	COL2A1	OMIM:108300
HP:0006705	Abnormal atrioventricular valve morphology	200734	SPRED2	OMIM:619745
HP:0006705	Abnormal atrioventricular valve morphology	4089	SMAD4	OMIM:175050
HP:0006705	Abnormal atrioventricular valve morphology	6261	RYR1	ORPHA:597
HP:0006705	Abnormal atrioventricular valve morphology	7450	VWF	OMIM:193400
HP:0006705	Abnormal atrioventricular valve morphology	10526	IPO8	OMIM:619472
HP:0006705	Abnormal atrioventricular valve morphology	1387	CREBBP	OMIM:180849
HP:0006705	Abnormal atrioventricular valve morphology	2033	EP300	OMIM:180849
HP:0006705	Abnormal atrioventricular valve morphology	6125	RPL5	OMIM:612561
HP:0006705	Abnormal atrioventricular valve morphology	6804	STX1A	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	7461	CLIP2	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	84277	DNAJC30	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	8468	FKBP6	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	5982	RFC2	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	2969	GTF2I	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	3984	LIMK1	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	9569	GTF2IRD1	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	155382	VPS37D	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	155368	METTL27	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	114049	BUD23	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	7458	EIF4H	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	84163	GTF2IRD2	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	9275	BCL7B	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	26608	TBL2	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	653361	NCF1	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	135886	TMEM270	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	9031	BAZ1B	ORPHA:904
HP:0006705	Abnormal atrioventricular valve morphology	285590	SH3PXD2B	ORPHA:137834
HP:0006705	Abnormal atrioventricular valve morphology	285590	SH3PXD2B	OMIM:249420
HP:0006705	Abnormal atrioventricular valve morphology	286	ANK1	ORPHA:251066
HP:0006705	Abnormal atrioventricular valve morphology	5781	PTPN11	ORPHA:500
HP:0006705	Abnormal atrioventricular valve morphology	5781	PTPN11	OMIM:151100
HP:0006705	Abnormal atrioventricular valve morphology	673	BRAF	ORPHA:500
HP:0006705	Abnormal atrioventricular valve morphology	5894	RAF1	ORPHA:500
HP:0006705	Abnormal atrioventricular valve morphology	368	ABCC6	OMIM:177850
HP:0006705	Abnormal atrioventricular valve morphology	368	ABCC6	OMIM:264800
HP:0006705	Abnormal atrioventricular valve morphology	368	ABCC6	ORPHA:758
HP:0006705	Abnormal atrioventricular valve morphology	64131	XYLT1	OMIM:264800
HP:0006705	Abnormal atrioventricular valve morphology	5594	MAPK1	OMIM:619087
HP:0006705	Abnormal atrioventricular valve morphology	10551	AGR2	OMIM:620233
HP:0006705	Abnormal atrioventricular valve morphology	11107	PRDM5	ORPHA:90354
HP:0006705	Abnormal atrioventricular valve morphology	6497	SKI	OMIM:182212
HP:0006705	Abnormal atrioventricular valve morphology	6497	SKI	ORPHA:2462
HP:0006705	Abnormal atrioventricular valve morphology	126792	B3GALT6	ORPHA:536467
HP:0006705	Abnormal atrioventricular valve morphology	4088	SMAD3	OMIM:613795
HP:0006705	Abnormal atrioventricular valve morphology	7048	TGFBR2	OMIM:610168
HP:0006705	Abnormal atrioventricular valve morphology	22873	DZIP1	OMIM:610840
HP:0006705	Abnormal atrioventricular valve morphology	6533	SLC6A6	OMIM:145350
HP:0006705	Abnormal atrioventricular valve morphology	875	CBS	OMIM:236200
HP:0006705	Abnormal atrioventricular valve morphology	9469	CHST3	OMIM:245600
HP:0006705	Abnormal atrioventricular valve morphology	26229	B3GAT3	OMIM:245600
HP:0006705	Abnormal atrioventricular valve morphology	56652	TWNK	OMIM:607459
HP:0006705	Abnormal atrioventricular valve morphology	4883	NPR3	OMIM:619543
HP:0006705	Abnormal atrioventricular valve morphology	529	ATP6V1E1	OMIM:617402
HP:0006705	Abnormal atrioventricular valve morphology	7046	TGFBR1	OMIM:609192
HP:0006705	Abnormal atrioventricular valve morphology	5167	ENPP1	ORPHA:758
HP:0006705	Abnormal atrioventricular valve morphology	161742	SPRED1	ORPHA:137605
HP:0006705	Abnormal atrioventricular valve morphology	7042	TGFB2	OMIM:614816
HP:0006705	Abnormal atrioventricular valve morphology	9897	WASHC5	ORPHA:7
HP:0006705	Abnormal atrioventricular valve morphology	28952	CCDC22	ORPHA:7
HP:0006705	Abnormal atrioventricular valve morphology	6197	RPS6KA3	ORPHA:192
HP:0006705	Abnormal atrioventricular valve morphology	3423	IDS	ORPHA:217085
HP:0006705	Abnormal atrioventricular valve morphology	3423	IDS	ORPHA:217093
HP:0006705	Abnormal atrioventricular valve morphology	55109	AGGF1	ORPHA:90308
HP:0006705	Abnormal atrioventricular valve morphology	64359	NXN	ORPHA:1507
HP:0006705	Abnormal atrioventricular valve morphology	4920	ROR2	ORPHA:1507
HP:0006705	Abnormal atrioventricular valve morphology	1277	COL1A1	ORPHA:287
HP:0006705	Abnormal atrioventricular valve morphology	1289	COL5A1	ORPHA:287
HP:0006705	Abnormal atrioventricular valve morphology	1290	COL5A2	ORPHA:287
HP:0006705	Abnormal atrioventricular valve morphology	7703	PCGF2	OMIM:618371
HP:0006705	Abnormal atrioventricular valve morphology	113189	CHST14	OMIM:601776
HP:0006705	Abnormal atrioventricular valve morphology	2260	FGFR1	ORPHA:2396
HP:0006705	Abnormal atrioventricular valve morphology	3845	KRAS	ORPHA:2396
HP:0006705	Abnormal atrioventricular valve morphology	3845	KRAS	OMIM:609942
HP:0006705	Abnormal atrioventricular valve morphology	54539	NDUFB11	ORPHA:2556
HP:0006705	Abnormal atrioventricular valve morphology	1349	COX7B	ORPHA:2556
HP:0006705	Abnormal atrioventricular valve morphology	3052	HCCS	ORPHA:2556
HP:0006705	Abnormal atrioventricular valve morphology	3081	HGD	ORPHA:56
HP:0006705	Abnormal atrioventricular valve morphology	3081	HGD	OMIM:203500
HP:0006705	Abnormal atrioventricular valve morphology	64135	IFIH1	OMIM:182250
HP:0006705	Abnormal atrioventricular valve morphology	4000	LMNA	ORPHA:363618
HP:0006705	Abnormal atrioventricular valve morphology	4000	LMNA	ORPHA:740
HP:0006705	Abnormal atrioventricular valve morphology	10269	ZMPSTE24	ORPHA:740
HP:0006705	Abnormal atrioventricular valve morphology	2629	GBA1	OMIM:231005
HP:0006705	Abnormal atrioventricular valve morphology	2629	GBA1	ORPHA:77261
HP:0006705	Abnormal atrioventricular valve morphology	2629	GBA1	ORPHA:2072
HP:0006705	Abnormal atrioventricular valve morphology	10568	SLC34A2	ORPHA:60025
HP:0006705	Abnormal atrioventricular valve morphology	10651	MTX2	OMIM:619127
HP:0006705	Abnormal atrioventricular valve morphology	51085	MLXIPL	OMIM:194050
HP:0006705	Abnormal atrioventricular valve morphology	2006	ELN	OMIM:194050
HP:0006705	Abnormal atrioventricular valve morphology	23118	TAB2	OMIM:614980
HP:0006705	Abnormal atrioventricular valve morphology	2200	FBN1	OMIM:154700
HP:0006705	Abnormal atrioventricular valve morphology	1193	CLIC2	ORPHA:324410
HP:0006705	Abnormal atrioventricular valve morphology	57158	JPH2	OMIM:619492
HP:0006705	Abnormal atrioventricular valve morphology	7528	YY1	ORPHA:506358
HP:0006705	Abnormal atrioventricular valve morphology	4841	NONO	ORPHA:466791
HP:0006705	Abnormal atrioventricular valve morphology	2623	GATA1	OMIM:190685
HP:0006705	Abnormal atrioventricular valve morphology	7168	TPM1	OMIM:611878
HP:0006705	Abnormal atrioventricular valve morphology	158326	FREM1	OMIM:608980
HP:0006705	Abnormal atrioventricular valve morphology	7547	ZIC3	OMIM:306955
HP:0006705	Abnormal atrioventricular valve morphology	10128	LRPPRC	OMIM:220111
HP:0006705	Abnormal atrioventricular valve morphology	84231	TRAF7	OMIM:618164
HP:0006705	Abnormal atrioventricular valve morphology	92002	CCNQ	ORPHA:140952
HP:0006705	Abnormal atrioventricular valve morphology	2697	GJA1	ORPHA:2248
HP:0006705	Abnormal atrioventricular valve morphology	1482	NKX2-5	ORPHA:2248
HP:0006705	Abnormal atrioventricular valve morphology	1482	NKX2-5	OMIM:614435
HP:0006705	Abnormal atrioventricular valve morphology	55784	MCTP2	ORPHA:1596
HP:0006705	Abnormal atrioventricular valve morphology	2783	GNB2	OMIM:619503
HP:0006705	Abnormal atrioventricular valve morphology	118856	MMP21	OMIM:616749
HP:0006705	Abnormal atrioventricular valve morphology	4851	NOTCH1	OMIM:109730
HP:0006705	Abnormal atrioventricular valve morphology	6597	SMARCA4	OMIM:614609
HP:0006705	Abnormal atrioventricular valve morphology	9772	TMEM94	OMIM:618316
HP:0006705	Abnormal atrioventricular valve morphology	2627	GATA6	OMIM:600001
HP:0006705	Abnormal atrioventricular valve morphology	2627	GATA6	ORPHA:2255
HP:0006705	Abnormal atrioventricular valve morphology	4625	MYH7	ORPHA:1880
HP:0006705	Abnormal atrioventricular valve morphology	2316	FLNA	OMIM:314400
HP:0006705	Abnormal atrioventricular valve morphology	5337	PLD1	OMIM:212093
HP:0006705	Abnormal atrioventricular valve morphology	4613	MYCN	OMIM:164280
HP:0006705	Abnormal atrioventricular valve morphology	4613	MYCN	ORPHA:391641
HP:0006705	Abnormal atrioventricular valve morphology	54916	TMEM260	OMIM:617478
HP:0006705	Abnormal atrioventricular valve morphology	1312	COMT	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	221037	JMJD1C	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	2812	GP1BB	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	6239	RREB1	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	6899	TBX1	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	7290	HIRA	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	9632	SEC24C	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	7353	UFD1	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	421	ARVCF	ORPHA:567
HP:0006705	Abnormal atrioventricular valve morphology	745	MYRF	OMIM:618280
HP:0006705	Abnormal atrioventricular valve morphology	2294	FOXF1	OMIM:265380
HP:0006705	Abnormal atrioventricular valve morphology	55636	CHD7	OMIM:214800
HP:0006705	Abnormal atrioventricular valve morphology	6885	MAP3K7	OMIM:157800
HP:0004309	Ventricular preexcitation	4512	MT-CO1	OMIM:540000
HP:0004309	Ventricular preexcitation	4512	MT-CO1	ORPHA:550
HP:0004309	Ventricular preexcitation	4513	MT-CO2	OMIM:540000
HP:0004309	Ventricular preexcitation	4513	MT-CO2	ORPHA:550
HP:0004309	Ventricular preexcitation	4514	MT-CO3	OMIM:540000
HP:0004309	Ventricular preexcitation	4514	MT-CO3	ORPHA:550
HP:0004309	Ventricular preexcitation	4519	MT-CYB	OMIM:540000
HP:0004309	Ventricular preexcitation	4519	MT-CYB	ORPHA:137675
HP:0004309	Ventricular preexcitation	4511	MT-TC	OMIM:540000
HP:0004309	Ventricular preexcitation	4574	MT-TS1	OMIM:540000
HP:0004309	Ventricular preexcitation	4574	MT-TS1	ORPHA:550
HP:0004309	Ventricular preexcitation	4575	MT-TS2	OMIM:540000
HP:0004309	Ventricular preexcitation	4575	MT-TS2	ORPHA:550
HP:0004309	Ventricular preexcitation	4558	MT-TF	OMIM:540000
HP:0004309	Ventricular preexcitation	4558	MT-TF	ORPHA:550
HP:0004309	Ventricular preexcitation	4541	MT-ND6	OMIM:540000
HP:0004309	Ventricular preexcitation	4541	MT-ND6	ORPHA:550
HP:0004309	Ventricular preexcitation	4567	MT-TL1	OMIM:540000
HP:0004309	Ventricular preexcitation	4567	MT-TL1	ORPHA:550
HP:0004309	Ventricular preexcitation	4540	MT-ND5	OMIM:540000
HP:0004309	Ventricular preexcitation	4540	MT-ND5	ORPHA:550
HP:0004309	Ventricular preexcitation	4566	MT-TK	OMIM:540000
HP:0004309	Ventricular preexcitation	4535	MT-ND1	OMIM:540000
HP:0004309	Ventricular preexcitation	4535	MT-ND1	ORPHA:550
HP:0004309	Ventricular preexcitation	4572	MT-TQ	OMIM:540000
HP:0004309	Ventricular preexcitation	4572	MT-TQ	ORPHA:550
HP:0004309	Ventricular preexcitation	4577	MT-TV	OMIM:540000
HP:0004309	Ventricular preexcitation	4578	MT-TW	OMIM:540000
HP:0004309	Ventricular preexcitation	4578	MT-TW	ORPHA:550
HP:0004309	Ventricular preexcitation	4538	MT-ND4	ORPHA:550
HP:0004309	Ventricular preexcitation	4564	MT-TH	ORPHA:550
HP:0004309	Ventricular preexcitation	650	BMP2	ORPHA:261295
HP:0004309	Ventricular preexcitation	51103	NDUFAF1	OMIM:618234
HP:0004309	Ventricular preexcitation	478	ATP1A3	OMIM:601338
HP:0004309	Ventricular preexcitation	63931	MRPS14	OMIM:618378
HP:0004309	Ventricular preexcitation	3714	JAG2	OMIM:619566
HP:0004309	Ventricular preexcitation	3920	LAMP2	OMIM:300257
HP:0004309	Ventricular preexcitation	7137	TNNI3	OMIM:613690
HP:0004309	Ventricular preexcitation	51422	PRKAG2	OMIM:600858
HP:0004309	Ventricular preexcitation	51422	PRKAG2	OMIM:194200
HP:0004309	Ventricular preexcitation	7249	TSC2	OMIM:613254
HP:0004309	Ventricular preexcitation	3458	IFNG	OMIM:613254
HP:0004309	Ventricular preexcitation	96459	FNIP1	OMIM:619705
HP:0004309	Ventricular preexcitation	2548	GAA	OMIM:232300
HP:0004309	Ventricular preexcitation	7248	TSC1	OMIM:191100
HP:0004309	Ventricular preexcitation	123263	MTFMT	OMIM:614947
HP:0004309	Ventricular preexcitation	8557	TCAP	OMIM:607487
HP:0004309	Ventricular preexcitation	84705	GTPBP3	ORPHA:444013
HP:0004309	Ventricular preexcitation	84277	DNAJC30	ORPHA:104
HP:0004309	Ventricular preexcitation	4536	MT-ND2	ORPHA:104
HP:0004309	Ventricular preexcitation	4720	NDUFS2	ORPHA:104
HP:0004309	Ventricular preexcitation	4508	MT-ATP6	ORPHA:104
HP:0004309	Ventricular preexcitation	4539	MT-ND4L	ORPHA:104
HP:0006677	Prolonged QRS complex	79188	TMEM43	OMIM:604400
HP:0006677	Prolonged QRS complex	3728	JUP	OMIM:601214
HP:0006677	Prolonged QRS complex	3728	JUP	OMIM:611528
HP:0006677	Prolonged QRS complex	51422	PRKAG2	OMIM:261740
HP:0006677	Prolonged QRS complex	51422	PRKAG2	OMIM:600858
HP:0006677	Prolonged QRS complex	51422	PRKAG2	OMIM:194200
HP:0006677	Prolonged QRS complex	10265	IRX5	OMIM:611174
HP:0006677	Prolonged QRS complex	2702	GJA5	OMIM:614049
HP:0006677	Prolonged QRS complex	5318	PKP2	OMIM:609040
HP:0006682	Premature ventricular contraction	3759	KCNJ2	OMIM:170390
HP:0006682	Premature ventricular contraction	3759	KCNJ2	ORPHA:37553
HP:0006682	Premature ventricular contraction	3762	KCNJ5	ORPHA:37553
HP:0006682	Premature ventricular contraction	4784	NFIX	OMIM:602535
HP:0006682	Premature ventricular contraction	26092	TOR1AIP1	OMIM:617072
HP:0006682	Premature ventricular contraction	253017	TECRL	OMIM:614021
HP:0006682	Premature ventricular contraction	8260	NAA10	OMIM:300855
HP:0006682	Premature ventricular contraction	5318	PKP2	OMIM:609040
HP:0006682	Premature ventricular contraction	788	SLC25A20	OMIM:212138
HP:0006682	Premature ventricular contraction	1000	CDH2	OMIM:618920
HP:0006682	Premature ventricular contraction	7716	VEZF1	OMIM:620247
HP:0006682	Premature ventricular contraction	3753	KCNE1	OMIM:612347
HP:0006682	Premature ventricular contraction	779	CACNA1S	ORPHA:423
HP:0006682	Premature ventricular contraction	6261	RYR1	ORPHA:423
HP:0006682	Premature ventricular contraction	83475	DOHH	OMIM:620066
HP:0006682	Premature ventricular contraction	6331	SCN5A	OMIM:601154
HP:0006682	Premature ventricular contraction	7555	CNBP	OMIM:602668
HP:0006682	Premature ventricular contraction	79188	TMEM43	OMIM:604400
HP:0006682	Premature ventricular contraction	3728	JUP	OMIM:601214
HP:0006682	Premature ventricular contraction	10345	TRDN	OMIM:615441
HP:0006682	Premature ventricular contraction	1829	DSG2	OMIM:610193
HP:0006682	Premature ventricular contraction	51086	TNNI3K	OMIM:616117
HP:0006682	Premature ventricular contraction	1804	DPP6	OMIM:612956
HP:0006682	Premature ventricular contraction	1832	DSP	OMIM:607450
HP:0006682	Premature ventricular contraction	801	CALM1	OMIM:614916
HP:0006682	Premature ventricular contraction	6262	RYR2	OMIM:115000
HP:0006682	Premature ventricular contraction	845	CASQ2	OMIM:604772
HP:0006682	Premature ventricular contraction	805	CALM2	OMIM:616249
HP:0032530	Decreased succinic semialdehyde dehydrogenase level	7915	ALDH5A1	OMIM:271980
HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	7915	ALDH5A1	OMIM:271980
HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration	7915	ALDH5A1	OMIM:271980
HP:0032538	Pretibial dimple	6662	SOX9	OMIM:114290
HP:0011611	Interrupted aortic arch	2627	GATA6	OMIM:600001
HP:0011611	Interrupted aortic arch	2627	GATA6	ORPHA:2255
HP:0011611	Interrupted aortic arch	745	MYRF	OMIM:618280
HP:0011611	Interrupted aortic arch	129563	DIS3L2	OMIM:267000
HP:0011611	Interrupted aortic arch	2294	FOXF1	OMIM:265380
HP:0011611	Interrupted aortic arch	6899	TBX1	OMIM:188400
HP:0011611	Interrupted aortic arch	6899	TBX1	OMIM:192430
HP:0011611	Interrupted aortic arch	6899	TBX1	ORPHA:1727
HP:0011611	Interrupted aortic arch	4613	MYCN	ORPHA:391641
HP:0011611	Interrupted aortic arch	4613	MYCN	OMIM:164280
HP:0011611	Interrupted aortic arch	137814	NKX2-6	ORPHA:3384
HP:0011611	Interrupted aortic arch	23129	PLXND1	ORPHA:3384
HP:0011611	Interrupted aortic arch	8802	SUCLG1	ORPHA:17
HP:0011611	Interrupted aortic arch	56006	SMG9	OMIM:616920
HP:0011611	Interrupted aortic arch	54916	TMEM260	OMIM:617478
HP:0011611	Interrupted aortic arch	2260	FGFR1	ORPHA:2396
HP:0011611	Interrupted aortic arch	3845	KRAS	ORPHA:2396
HP:0011611	Interrupted aortic arch	9993	DGCR2	OMIM:192430
HP:0011611	Interrupted aortic arch	8220	ESS2	OMIM:192430
HP:0011611	Interrupted aortic arch	8214	DGCR6	OMIM:192430
HP:0011611	Interrupted aortic arch	54487	DGCR8	OMIM:192430
HP:0011611	Interrupted aortic arch	118856	MMP21	OMIM:616749
HP:0011611	Interrupted aortic arch	55636	CHD7	ORPHA:138
HP:0011611	Interrupted aortic arch	9723	SEMA3E	ORPHA:138
HP:0012100	Abnormal circulating creatinine concentration	3043	HBB	ORPHA:232
HP:0012100	Abnormal circulating creatinine concentration	8518	ELP1	OMIM:223900
HP:0012100	Abnormal circulating creatinine concentration	1621	DBH	ORPHA:230
HP:0012100	Abnormal circulating creatinine concentration	116085	SLC22A12	OMIM:220150
HP:0012100	Abnormal circulating creatinine concentration	5311	PKD2	OMIM:613095
HP:0012100	Abnormal circulating creatinine concentration	5311	PKD2	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	595	CCND1	ORPHA:29073
HP:0012100	Abnormal circulating creatinine concentration	57545	CC2D2A	OMIM:619111
HP:0012100	Abnormal circulating creatinine concentration	29927	SEC61A1	OMIM:617056
HP:0012100	Abnormal circulating creatinine concentration	2321	FLT1	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	219736	STOX1	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	10699	CORIN	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	4179	CD46	OMIM:612922
HP:0012100	Abnormal circulating creatinine concentration	629	CFB	OMIM:612924
HP:0012100	Abnormal circulating creatinine concentration	3426	CFI	OMIM:612923
HP:0012100	Abnormal circulating creatinine concentration	7056	THBD	OMIM:612926
HP:0012100	Abnormal circulating creatinine concentration	718	C3	OMIM:612925
HP:0012100	Abnormal circulating creatinine concentration	4867	NPHP1	OMIM:266900
HP:0012100	Abnormal circulating creatinine concentration	10229	COQ7	OMIM:616733
HP:0012100	Abnormal circulating creatinine concentration	11093	ADAMTS13	OMIM:274150
HP:0012100	Abnormal circulating creatinine concentration	1962	EHHADH	OMIM:615605
HP:0012100	Abnormal circulating creatinine concentration	1497	CTNS	OMIM:219750
HP:0012100	Abnormal circulating creatinine concentration	1497	CTNS	ORPHA:411634
HP:0012100	Abnormal circulating creatinine concentration	51726	DNAJB11	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	23193	GANAB	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	5310	PKD1	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	29880	ALG5	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	9742	IFT140	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	79796	ALG9	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	80114	BICC1	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	1376	CPT2	OMIM:608836
HP:0012100	Abnormal circulating creatinine concentration	79989	IFT56	OMIM:619534
HP:0012100	Abnormal circulating creatinine concentration	51081	MRPS7	OMIM:617872
HP:0012100	Abnormal circulating creatinine concentration	6521	SLC4A1	OMIM:179800
HP:0012100	Abnormal circulating creatinine concentration	6928	HNF1B	OMIM:137920
HP:0012100	Abnormal circulating creatinine concentration	54916	TMEM260	OMIM:617478
HP:0012100	Abnormal circulating creatinine concentration	353	APRT	OMIM:614723
HP:0012100	Abnormal circulating creatinine concentration	6522	SLC4A2	OMIM:620366
HP:0012100	Abnormal circulating creatinine concentration	5076	PAX2	OMIM:120330
HP:0012100	Abnormal circulating creatinine concentration	11277	TREX1	ORPHA:247691
HP:0012100	Abnormal circulating creatinine concentration	254428	SLC41A1	OMIM:619468
HP:0012100	Abnormal circulating creatinine concentration	57728	WDR19	OMIM:614376
HP:0012100	Abnormal circulating creatinine concentration	90523	MLIP	OMIM:620138
HP:0012100	Abnormal circulating creatinine concentration	4582	MUC1	OMIM:174000
HP:0012100	Abnormal circulating creatinine concentration	79053	ALG8	OMIM:608104
HP:0012100	Abnormal circulating creatinine concentration	3251	HPRT1	ORPHA:79233
HP:0012100	Abnormal circulating creatinine concentration	27130	INVS	OMIM:602088
HP:0012100	Abnormal circulating creatinine concentration	3075	CFH	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	3078	CFHR1	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	10878	CFHR3	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	22909	FAN1	OMIM:614817
HP:0012100	Abnormal circulating creatinine concentration	4780	NFE2L2	OMIM:617744
HP:0012100	Abnormal circulating creatinine concentration	4907	NT5E	ORPHA:289601
HP:0012100	Abnormal circulating creatinine concentration	2590	GALNT2	OMIM:618885
HP:0012100	Abnormal circulating creatinine concentration	2593	GAMT	OMIM:612736
HP:0012100	Abnormal circulating creatinine concentration	554	AVPR2	OMIM:300539
HP:0012101	Decreased serum creatinine	4780	NFE2L2	OMIM:617744
HP:0012101	Decreased serum creatinine	4907	NT5E	ORPHA:289601
HP:0012101	Decreased serum creatinine	2590	GALNT2	OMIM:618885
HP:0012101	Decreased serum creatinine	2593	GAMT	OMIM:612736
HP:0012101	Decreased serum creatinine	554	AVPR2	OMIM:300539
HP:0012102	Abnormal mitochondrial number	1763	DNA2	ORPHA:352470
HP:0012102	Abnormal mitochondrial number	92667	MGME1	ORPHA:352447
HP:0012102	Abnormal mitochondrial number	119559	SFXN4	OMIM:615578
HP:0012102	Abnormal mitochondrial number	100303755	PET117	OMIM:619063
HP:0012102	Abnormal mitochondrial number	400916	CHCHD10	ORPHA:457050
HP:0012102	Abnormal mitochondrial number	2992	GYG1	ORPHA:263297
HP:0012103	Abnormality of the mitochondrion	1737	DLAT	OMIM:245348
HP:0012103	Abnormality of the mitochondrion	51218	GLRX5	ORPHA:401866
HP:0012103	Abnormality of the mitochondrion	51218	GLRX5	OMIM:616859
HP:0012103	Abnormality of the mitochondrion	8050	PDHX	OMIM:245349
HP:0012103	Abnormality of the mitochondrion	8050	PDHX	ORPHA:255182
HP:0012103	Abnormality of the mitochondrion	5162	PDHB	ORPHA:255138
HP:0012103	Abnormality of the mitochondrion	11019	LIAS	OMIM:614462
HP:0012103	Abnormality of the mitochondrion	54704	PDP1	OMIM:608782
HP:0012103	Abnormality of the mitochondrion	54704	PDP1	ORPHA:79246
HP:0012103	Abnormality of the mitochondrion	2395	FXN	OMIM:229300
HP:0012103	Abnormality of the mitochondrion	1497	CTNS	OMIM:219800
HP:0012103	Abnormality of the mitochondrion	1738	DLD	ORPHA:2394
HP:0012103	Abnormality of the mitochondrion	3155	HMGCL	OMIM:246450
HP:0012103	Abnormality of the mitochondrion	4556	MT-TE	ORPHA:254864
HP:0012103	Abnormality of the mitochondrion	55687	TRMU	ORPHA:254864
HP:0012103	Abnormality of the mitochondrion	37	ACADVL	OMIM:201475
HP:0012103	Abnormality of the mitochondrion	4695	NDUFA2	OMIM:618235
HP:0012103	Abnormality of the mitochondrion	34	ACADM	OMIM:201450
HP:0012103	Abnormality of the mitochondrion	1294	COL7A1	ORPHA:89842
HP:0012103	Abnormality of the mitochondrion	27034	ACAD8	OMIM:611283
HP:0012103	Abnormality of the mitochondrion	27034	ACAD8	ORPHA:79159
HP:0012103	Abnormality of the mitochondrion	133686	NADK2	ORPHA:431361
HP:0012103	Abnormality of the mitochondrion	3033	HADH	ORPHA:71212
HP:0012103	Abnormality of the mitochondrion	28976	ACAD9	ORPHA:99901
HP:0012103	Abnormality of the mitochondrion	64087	MCCC2	OMIM:210210
HP:0012103	Abnormality of the mitochondrion	788	SLC25A20	ORPHA:159
HP:0012103	Abnormality of the mitochondrion	1962	EHHADH	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	2628	GATM	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	137682	NDUFAF6	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	6569	SLC34A1	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	6584	SLC22A5	OMIM:212140
HP:0012103	Abnormality of the mitochondrion	1786	DNMT1	ORPHA:314404
HP:0012103	Abnormality of the mitochondrion	26275	HIBCH	ORPHA:88639
HP:0012103	Abnormality of the mitochondrion	204	AK2	ORPHA:33355
HP:0012103	Abnormality of the mitochondrion	3028	HSD17B10	ORPHA:391428
HP:0012103	Abnormality of the mitochondrion	1536	CYBB	OMIM:306400
HP:0012103	Abnormality of the mitochondrion	1535	CYBA	OMIM:233690
HP:0012103	Abnormality of the mitochondrion	2108	ETFA	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	2109	ETFB	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	2110	ETFDH	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	200205	IBA57	ORPHA:468661
HP:0012103	Abnormality of the mitochondrion	200205	IBA57	OMIM:615330
HP:0012103	Abnormality of the mitochondrion	112812	FDX2	OMIM:251900
HP:0012103	Abnormality of the mitochondrion	6390	SDHB	OMIM:619224
HP:0012103	Abnormality of the mitochondrion	51102	MECR	ORPHA:508093
HP:0012103	Abnormality of the mitochondrion	9054	NFS1	OMIM:619386
HP:0012103	Abnormality of the mitochondrion	6392	SDHD	OMIM:619167
HP:0012103	Abnormality of the mitochondrion	125170	MIEF2	OMIM:619024
HP:0012103	Abnormality of the mitochondrion	84300	UQCC2	OMIM:615824
HP:0012103	Abnormality of the mitochondrion	64116	SLC39A8	ORPHA:468699
HP:0012103	Abnormality of the mitochondrion	23479	ISCU	OMIM:255125
HP:0012103	Abnormality of the mitochondrion	6341	SCO1	OMIM:619048
HP:0012103	Abnormality of the mitochondrion	4568	MT-TL2	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4567	MT-TL1	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4567	MT-TL1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4570	MT-TN	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4574	MT-TS1	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4574	MT-TS1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4558	MT-TF	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4572	MT-TQ	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4513	MT-CO2	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4578	MT-TW	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4575	MT-TS2	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4564	MT-TH	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	54539	NDUFB11	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	25915	NDUFAF3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	51103	NDUFAF1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	51300	TIMMDC1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4716	NDUFB10	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	284184	NDUFAF8	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4537	MT-ND3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4694	NDUFA1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4726	NDUFS6	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	126328	NDUFA11	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4709	NDUFB3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	80224	NUBPL	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	29078	NDUFAF4	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4700	NDUFA6	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4715	NDUFB9	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	10939	AFG3L2	ORPHA:313772
HP:0012103	Abnormality of the mitochondrion	4625	MYH7	ORPHA:59135
HP:0012103	Abnormality of the mitochondrion	6687	SPG7	ORPHA:99013
HP:0012103	Abnormality of the mitochondrion	6901	TAFAZZIN	ORPHA:111
HP:0012103	Abnormality of the mitochondrion	6901	TAFAZZIN	OMIM:302060
HP:0012103	Abnormality of the mitochondrion	2521	FUS	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	8878	SQSTM1	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	7415	VCP	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	23435	TARDBP	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	29110	TBK1	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	10128	LRPPRC	OMIM:220111
HP:0012103	Abnormality of the mitochondrion	10128	LRPPRC	ORPHA:70472
HP:0012103	Abnormality of the mitochondrion	9997	SCO2	OMIM:604377
HP:0012103	Abnormality of the mitochondrion	51241	COX16	OMIM:619355
HP:0012103	Abnormality of the mitochondrion	28958	COA3	OMIM:619058
HP:0012103	Abnormality of the mitochondrion	116228	COX20	OMIM:619054
HP:0012103	Abnormality of the mitochondrion	388753	COA6	OMIM:616501
HP:0012103	Abnormality of the mitochondrion	493753	COA5	OMIM:616500
HP:0012103	Abnormality of the mitochondrion	84334	COA8	OMIM:619061
HP:0012103	Abnormality of the mitochondrion	1339	COX6A2	OMIM:619062
HP:0012103	Abnormality of the mitochondrion	9377	COX5A	OMIM:619064
HP:0012103	Abnormality of the mitochondrion	1327	COX4I1	OMIM:619060
HP:0012103	Abnormality of the mitochondrion	64432	MRPS25	OMIM:619025
HP:0012103	Abnormality of the mitochondrion	9131	AIFM1	OMIM:300816
HP:0012103	Abnormality of the mitochondrion	6389	SDHA	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	80704	SLC19A3	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	91942	NDUFAF2	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	6834	SURF1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4723	NDUFV1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	55572	FOXRED1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4729	NDUFV2	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	55967	NDUFA12	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	51204	TACO1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4724	NDUFS4	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4728	NDUFS8	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4722	NDUFS3	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	79133	NDUFAF5	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	5160	PDHA1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	100131801	PET100	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	1355	COX15	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	1892	ECHS1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	123263	MTFMT	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	51079	NDUFA13	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	374291	NDUFS7	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4705	NDUFA10	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	51601	LIPT1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4719	NDUFS1	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4697	NDUFA4	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	4704	NDUFA9	ORPHA:255241
HP:0012103	Abnormality of the mitochondrion	388962	BOLA3	OMIM:614299
HP:0012103	Abnormality of the mitochondrion	27247	NFU1	OMIM:605711
HP:0012103	Abnormality of the mitochondrion	3735	KARS1	OMIM:619147
HP:0012103	Abnormality of the mitochondrion	8803	SUCLA2	OMIM:612073
HP:0012103	Abnormality of the mitochondrion	2671	GFER	OMIM:613076
HP:0012103	Abnormality of the mitochondrion	9200	HACD1	OMIM:619967
HP:0012103	Abnormality of the mitochondrion	128240	NAXE	OMIM:617186
HP:0012103	Abnormality of the mitochondrion	1020	CDK5	OMIM:616342
HP:0012103	Abnormality of the mitochondrion	4702	NDUFA8	OMIM:619272
HP:0012103	Abnormality of the mitochondrion	80308	FLAD1	OMIM:255100
HP:0012103	Abnormality of the mitochondrion	57176	VARS2	OMIM:615917
HP:0012103	Abnormality of the mitochondrion	4718	NDUFC2	OMIM:619170
HP:0012103	Abnormality of the mitochondrion	55037	PTCD3	OMIM:619057
HP:0012103	Abnormality of the mitochondrion	80324	PUS1	OMIM:600462
HP:0012103	Abnormality of the mitochondrion	4714	NDUFB8	OMIM:618252
HP:0012103	Abnormality of the mitochondrion	84705	GTPBP3	OMIM:616198
HP:0012103	Abnormality of the mitochondrion	84705	GTPBP3	ORPHA:444013
HP:0012103	Abnormality of the mitochondrion	79731	NARS2	OMIM:616239
HP:0012103	Abnormality of the mitochondrion	122961	ISCA2	OMIM:616370
HP:0012103	Abnormality of the mitochondrion	6182	MRPL12	OMIM:618951
HP:0012103	Abnormality of the mitochondrion	60528	ELAC2	OMIM:615440
HP:0012103	Abnormality of the mitochondrion	51649	MRPS23	OMIM:618952
HP:0012103	Abnormality of the mitochondrion	54802	TRIT1	OMIM:617873
HP:0012103	Abnormality of the mitochondrion	29960	MRM2	OMIM:618567
HP:0012103	Abnormality of the mitochondrion	57505	AARS2	OMIM:614096
HP:0012103	Abnormality of the mitochondrion	1468	SLC25A10	OMIM:618972
HP:0012103	Abnormality of the mitochondrion	115286	SLC25A26	OMIM:616794
HP:0012103	Abnormality of the mitochondrion	4713	NDUFB7	OMIM:620135
HP:0012103	Abnormality of the mitochondrion	1537	CYC1	OMIM:615453
HP:0012103	Abnormality of the mitochondrion	63899	NSUN3	OMIM:619012
HP:0012103	Abnormality of the mitochondrion	498	ATP5F1A	OMIM:616045
HP:0012103	Abnormality of the mitochondrion	27089	UQCRQ	OMIM:615159
HP:0012103	Abnormality of the mitochondrion	7084	TK2	OMIM:609560
HP:0012103	Abnormality of the mitochondrion	54902	TTC19	OMIM:615157
HP:0012103	Abnormality of the mitochondrion	7381	UQCRB	OMIM:615158
HP:0012103	Abnormality of the mitochondrion	4358	MPV17	OMIM:256810
HP:0012103	Abnormality of the mitochondrion	85476	GFM1	OMIM:609060
HP:0012103	Abnormality of the mitochondrion	25821	MTO1	OMIM:614702
HP:0012103	Abnormality of the mitochondrion	708	C1QBP	OMIM:617713
HP:0012103	Abnormality of the mitochondrion	90624	LYRM7	OMIM:615838
HP:0012103	Abnormality of the mitochondrion	124454	EARS2	OMIM:614924
HP:0012103	Abnormality of the mitochondrion	54675	CRLS1	OMIM:620167
HP:0012103	Abnormality of the mitochondrion	55750	AGK	OMIM:212350
HP:0012103	Abnormality of the mitochondrion	10102	TSFM	OMIM:610505
HP:0012103	Abnormality of the mitochondrion	1716	DGUOK	OMIM:251880
HP:0012103	Abnormality of the mitochondrion	56945	MRPS22	OMIM:611719
HP:0012103	Abnormality of the mitochondrion	8802	SUCLG1	OMIM:245400
HP:0012103	Abnormality of the mitochondrion	8802	SUCLG1	ORPHA:17
HP:0012103	Abnormality of the mitochondrion	29928	TIMM22	OMIM:618851
HP:0012103	Abnormality of the mitochondrion	63931	MRPS14	OMIM:618378
HP:0012103	Abnormality of the mitochondrion	79587	CARS2	ORPHA:477774
HP:0012103	Abnormality of the mitochondrion	79587	CARS2	OMIM:616672
HP:0012103	Abnormality of the mitochondrion	25828	TXN2	ORPHA:478029
HP:0012103	Abnormality of the mitochondrion	25828	TXN2	OMIM:616811
HP:0012103	Abnormality of the mitochondrion	51067	YARS2	OMIM:613561
HP:0012103	Abnormality of the mitochondrion	790955	UQCC3	OMIM:616111
HP:0012103	Abnormality of the mitochondrion	84340	GFM2	OMIM:618397
HP:0012103	Abnormality of the mitochondrion	55278	QRSL1	OMIM:618835
HP:0012103	Abnormality of the mitochondrion	57570	TRMT5	OMIM:616539
HP:0012103	Abnormality of the mitochondrion	51021	MRPS16	OMIM:610498
HP:0012103	Abnormality of the mitochondrion	57038	RARS2	OMIM:611523
HP:0012103	Abnormality of the mitochondrion	7388	UQCRH	OMIM:620137
HP:0012103	Abnormality of the mitochondrion	283459	GATC	OMIM:618839
HP:0012103	Abnormality of the mitochondrion	617	BCS1L	OMIM:124000
HP:0012103	Abnormality of the mitochondrion	54968	TMEM70	OMIM:614052
HP:0012103	Abnormality of the mitochondrion	92609	TIMM50	ORPHA:505216
HP:0012103	Abnormality of the mitochondrion	91574	MTRFR	OMIM:613559
HP:0012103	Abnormality of the mitochondrion	513	ATP5F1D	OMIM:618120
HP:0012103	Abnormality of the mitochondrion	514	ATP5F1E	OMIM:614053
HP:0012103	Abnormality of the mitochondrion	91647	ATPAF2	OMIM:604273
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	OMIM:608836
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	ORPHA:228305
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	ORPHA:228308
HP:0012103	Abnormality of the mitochondrion	4312	MMP1	ORPHA:79408
HP:0012103	Abnormality of the mitochondrion	56947	MFF	ORPHA:485421
HP:0012103	Abnormality of the mitochondrion	2232	FDXR	ORPHA:543470
HP:0012103	Abnormality of the mitochondrion	5428	POLG	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	5428	POLG	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	1890	TYMP	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	3980	LIG3	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	50484	RRM2B	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	50484	RRM2B	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	291	SLC25A4	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	56652	TWNK	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	11232	POLG2	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	10059	DNM1L	ORPHA:330050
HP:0012103	Abnormality of the mitochondrion	5250	SLC25A3	ORPHA:91130
HP:0012103	Abnormality of the mitochondrion	10020	GNE	ORPHA:3166
HP:0012103	Abnormality of the mitochondrion	5830	PEX5	OMIM:214110
HP:0012103	Abnormality of the mitochondrion	4703	NEB	OMIM:256030
HP:0012103	Abnormality of the mitochondrion	7273	TTN	OMIM:611705
HP:0012103	Abnormality of the mitochondrion	2271	FH	OMIM:606812
HP:0012103	Abnormality of the mitochondrion	55863	TMEM126B	OMIM:618250
HP:0012103	Abnormality of the mitochondrion	79784	MYH14	ORPHA:397744
HP:0012103	Abnormality of the mitochondrion	57128	LYRM4	OMIM:615595
HP:0012103	Abnormality of the mitochondrion	9453	GGPS1	OMIM:619518
HP:0012103	Abnormality of the mitochondrion	1120	CHKB	OMIM:602541
HP:0012103	Abnormality of the mitochondrion	1763	DNA2	ORPHA:352470
HP:0012103	Abnormality of the mitochondrion	92667	MGME1	ORPHA:352447
HP:0012103	Abnormality of the mitochondrion	119559	SFXN4	OMIM:615578
HP:0012103	Abnormality of the mitochondrion	100303755	PET117	OMIM:619063
HP:0012103	Abnormality of the mitochondrion	400916	CHCHD10	ORPHA:457050
HP:0012103	Abnormality of the mitochondrion	2992	GYG1	ORPHA:263297
HP:0012103	Abnormality of the mitochondrion	3030	HADHA	OMIM:609016
HP:0012103	Abnormality of the mitochondrion	1593	CYP27A1	ORPHA:909
HP:0012103	Abnormality of the mitochondrion	87178	PNPT1	ORPHA:319514
HP:0012103	Abnormality of the mitochondrion	26235	FBXL4	OMIM:615471
HP:0012103	Abnormality of the mitochondrion	84277	DNAJC30	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4535	MT-ND1	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4536	MT-ND2	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4538	MT-ND4	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4720	NDUFS2	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4512	MT-CO1	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4514	MT-CO3	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4519	MT-CYB	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4508	MT-ATP6	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4540	MT-ND5	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4541	MT-ND6	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4539	MT-ND4L	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	5495	PPM1B	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	6519	SLC3A1	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	9581	PREPL	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	79823	CAMKMT	ORPHA:163693
HP:0012104	Parietal cortical atrophy	10273	STUB1	ORPHA:412057
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:177904
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:177901
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:98754
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:177904
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:177901
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:98754
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:177904
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:177901
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:98754
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:177904
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:177901
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:98754
HP:0012104	Parietal cortical atrophy	55681	SCYL2	OMIM:618766
HP:0012104	Parietal cortical atrophy	26278	SACS	ORPHA:98
HP:0012104	Parietal cortical atrophy	10430	TMEM147	OMIM:620075
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:177904
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:177901
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:98754
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:177904
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:177901
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:98754
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:177904
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:177901
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:98754
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:177904
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:177901
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:98754
HP:0012105	Occipital cortical atrophy	85440	DOCK7	ORPHA:411986
HP:0012106	Rhizomelic leg shortening	1280	COL2A1	OMIM:271700
HP:0012106	Rhizomelic leg shortening	79848	CSPP1	ORPHA:397715
HP:0012106	Rhizomelic leg shortening	9786	KIAA0586	ORPHA:397715
HP:0012107	Increased fibular diameter	10082	GPC6	OMIM:258315
HP:0012107	Increased fibular diameter	3636	INPPL1	ORPHA:3144
HP:0012107	Increased fibular diameter	23169	SLC35D1	ORPHA:3144
HP:0012108	Open angle glaucoma	10133	OPTN	OMIM:137760
HP:0012108	Open angle glaucoma	4909	NTF4	OMIM:613100
HP:0012108	Open angle glaucoma	4010	LMX1B	ORPHA:2614
HP:0012108	Open angle glaucoma	11232	POLG2	OMIM:619425
HP:0012108	Open angle glaucoma	2263	FGFR2	ORPHA:2363
HP:0012108	Open angle glaucoma	2261	FGFR3	ORPHA:2363
HP:0012108	Open angle glaucoma	2255	FGF10	ORPHA:2363
HP:0012108	Open angle glaucoma	134430	WDR36	OMIM:609887
HP:0012108	Open angle glaucoma	2202	EFEMP1	ORPHA:98977
HP:0012108	Open angle glaucoma	1545	CYP1B1	ORPHA:98977
HP:0012108	Open angle glaucoma	4653	MYOC	ORPHA:98977
HP:0012108	Open angle glaucoma	136371	ASB10	OMIM:603383
HP:0006684	Ventricular preexcitation with multiple accessory pathways	51422	PRKAG2	OMIM:194200
HP:0006685	Endocardial fibrosis	7414	VCL	OMIM:613255
HP:0006685	Endocardial fibrosis	88	ACTN2	OMIM:612158
HP:0006685	Endocardial fibrosis	3431	SP110	OMIM:235550
HP:0006685	Endocardial fibrosis	5156	PDGFRA	OMIM:607685
HP:0006685	Endocardial fibrosis	4634	MYL3	OMIM:608751
HP:0006685	Endocardial fibrosis	11155	LDB3	OMIM:601493
HP:0001635	Congestive heart failure	282996	RBM20	OMIM:613172
HP:0001635	Congestive heart failure	2070	EYA4	ORPHA:217622
HP:0001635	Congestive heart failure	2070	EYA4	OMIM:605362
HP:0001635	Congestive heart failure	5350	PLN	OMIM:609909
HP:0001635	Congestive heart failure	55654	TMEM127	OMIM:171300
HP:0001635	Congestive heart failure	55654	TMEM127	ORPHA:29072
HP:0001635	Congestive heart failure	5979	RET	OMIM:171300
HP:0001635	Congestive heart failure	5979	RET	ORPHA:276621
HP:0001635	Congestive heart failure	5979	RET	ORPHA:29072
HP:0001635	Congestive heart failure	6390	SDHB	OMIM:171300
HP:0001635	Congestive heart failure	6390	SDHB	ORPHA:276621
HP:0001635	Congestive heart failure	6390	SDHB	ORPHA:29072
HP:0001635	Congestive heart failure	6392	SDHD	OMIM:171300
HP:0001635	Congestive heart failure	6392	SDHD	ORPHA:276621
HP:0001635	Congestive heart failure	6392	SDHD	ORPHA:29072
HP:0001635	Congestive heart failure	4149	MAX	OMIM:171300
HP:0001635	Congestive heart failure	4149	MAX	ORPHA:29072
HP:0001635	Congestive heart failure	7428	VHL	OMIM:171300
HP:0001635	Congestive heart failure	7428	VHL	ORPHA:276621
HP:0001635	Congestive heart failure	7428	VHL	ORPHA:29072
HP:0001635	Congestive heart failure	4625	MYH7	ORPHA:1880
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:613426
HP:0001635	Congestive heart failure	4625	MYH7	ORPHA:324604
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:255160
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:192600
HP:0001635	Congestive heart failure	2316	FLNA	OMIM:314400
HP:0001635	Congestive heart failure	5894	RAF1	OMIM:615916
HP:0001635	Congestive heart failure	4000	LMNA	OMIM:176670
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:280365
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:157973
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:2348
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:300751
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:79474
HP:0001635	Congestive heart failure	4000	LMNA	OMIM:115200
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:363618
HP:0001635	Congestive heart failure	148738	HJV	OMIM:602390
HP:0001635	Congestive heart failure	114803	MYSM1	ORPHA:508542
HP:0001635	Congestive heart failure	54968	TMEM70	ORPHA:1194
HP:0001635	Congestive heart failure	6341	SCO1	OMIM:619048
HP:0001635	Congestive heart failure	70	ACTC1	OMIM:612098
HP:0001635	Congestive heart failure	70	ACTC1	OMIM:613424
HP:0001635	Congestive heart failure	70	ACTC1	ORPHA:99103
HP:0001635	Congestive heart failure	84665	MYPN	OMIM:615248
HP:0001635	Congestive heart failure	65082	VPS33A	OMIM:617303
HP:0001635	Congestive heart failure	65082	VPS33A	ORPHA:505248
HP:0001635	Congestive heart failure	25782	RAB3GAP2	OMIM:212720
HP:0001635	Congestive heart failure	79158	GNPTAB	OMIM:252500
HP:0001635	Congestive heart failure	4512	MT-CO1	OMIM:540000
HP:0001635	Congestive heart failure	4513	MT-CO2	OMIM:540000
HP:0001635	Congestive heart failure	4514	MT-CO3	OMIM:540000
HP:0001635	Congestive heart failure	4519	MT-CYB	OMIM:540000
HP:0001635	Congestive heart failure	4519	MT-CYB	ORPHA:137675
HP:0001635	Congestive heart failure	4511	MT-TC	OMIM:540000
HP:0001635	Congestive heart failure	4574	MT-TS1	OMIM:540000
HP:0001635	Congestive heart failure	4575	MT-TS2	OMIM:540000
HP:0001635	Congestive heart failure	4558	MT-TF	OMIM:540000
HP:0001635	Congestive heart failure	4541	MT-ND6	OMIM:540000
HP:0001635	Congestive heart failure	4567	MT-TL1	OMIM:540000
HP:0001635	Congestive heart failure	4567	MT-TL1	ORPHA:225
HP:0001635	Congestive heart failure	4540	MT-ND5	OMIM:540000
HP:0001635	Congestive heart failure	4566	MT-TK	OMIM:540000
HP:0001635	Congestive heart failure	4566	MT-TK	ORPHA:225
HP:0001635	Congestive heart failure	4566	MT-TK	ORPHA:1349
HP:0001635	Congestive heart failure	4535	MT-ND1	OMIM:540000
HP:0001635	Congestive heart failure	4572	MT-TQ	OMIM:540000
HP:0001635	Congestive heart failure	4577	MT-TV	OMIM:540000
HP:0001635	Congestive heart failure	4578	MT-TW	OMIM:540000
HP:0001635	Congestive heart failure	2859	GPR35	ORPHA:171
HP:0001635	Congestive heart failure	10507	SEMA4D	ORPHA:171
HP:0001635	Congestive heart failure	4485	MST1	ORPHA:171
HP:0001635	Congestive heart failure	6925	TCF4	ORPHA:171
HP:0001635	Congestive heart failure	63976	PRDM16	OMIM:615373
HP:0001635	Congestive heart failure	5468	PPARG	ORPHA:79083
HP:0001635	Congestive heart failure	5468	PPARG	ORPHA:528
HP:0001635	Congestive heart failure	55109	AGGF1	ORPHA:90308
HP:0001635	Congestive heart failure	1788	DNMT3A	ORPHA:276621
HP:0001635	Congestive heart failure	2034	EPAS1	ORPHA:276621
HP:0001635	Congestive heart failure	7840	ALMS1	OMIM:203800
HP:0001635	Congestive heart failure	7840	ALMS1	ORPHA:64
HP:0001635	Congestive heart failure	1193	CLIC2	ORPHA:324410
HP:0001635	Congestive heart failure	1193	CLIC2	OMIM:300886
HP:0001635	Congestive heart failure	88	ACTN2	OMIM:618654
HP:0001635	Congestive heart failure	5167	ENPP1	OMIM:208000
HP:0001635	Congestive heart failure	51086	TNNI3K	OMIM:616117
HP:0001635	Congestive heart failure	9531	BAG3	OMIM:613881
HP:0001635	Congestive heart failure	4591	TRIM37	OMIM:253250
HP:0001635	Congestive heart failure	6389	SDHA	OMIM:613642
HP:0001635	Congestive heart failure	6389	SDHA	ORPHA:29072
HP:0001635	Congestive heart failure	6389	SDHA	OMIM:619259
HP:0001635	Congestive heart failure	84984	CEP19	OMIM:615703
HP:0001635	Congestive heart failure	9529	BAG5	OMIM:619747
HP:0001635	Congestive heart failure	28976	ACAD9	ORPHA:99901
HP:0001635	Congestive heart failure	28976	ACAD9	OMIM:611126
HP:0001635	Congestive heart failure	10370	CITED2	ORPHA:99105
HP:0001635	Congestive heart failure	10370	CITED2	ORPHA:99103
HP:0001635	Congestive heart failure	3039	HBA1	ORPHA:163596
HP:0001635	Congestive heart failure	3040	HBA2	ORPHA:163596
HP:0001635	Congestive heart failure	7092	TLL1	ORPHA:99106
HP:0001635	Congestive heart failure	7092	TLL1	ORPHA:99103
HP:0001635	Congestive heart failure	6772	STAT1	ORPHA:391487
HP:0001635	Congestive heart failure	10043	TOM1	ORPHA:391487
HP:0001635	Congestive heart failure	3572	IL6ST	OMIM:619751
HP:0001635	Congestive heart failure	2261	FGFR3	OMIM:616482
HP:0001635	Congestive heart failure	4607	MYBPC3	OMIM:115197
HP:0001635	Congestive heart failure	4607	MYBPC3	OMIM:615396
HP:0001635	Congestive heart failure	23118	TAB2	OMIM:614980
HP:0001635	Congestive heart failure	51422	PRKAG2	OMIM:600858
HP:0001635	Congestive heart failure	51422	PRKAG2	OMIM:261740
HP:0001635	Congestive heart failure	1743	DLST	ORPHA:29072
HP:0001635	Congestive heart failure	4191	MDH2	ORPHA:29072
HP:0001635	Congestive heart failure	23095	KIF1B	ORPHA:29072
HP:0001635	Congestive heart failure	2271	FH	ORPHA:29072
HP:0001635	Congestive heart failure	8402	SLC25A11	ORPHA:29072
HP:0001635	Congestive heart failure	54949	SDHAF2	ORPHA:29072
HP:0001635	Congestive heart failure	4763	NF1	ORPHA:29072
HP:0001635	Congestive heart failure	6391	SDHC	ORPHA:29072
HP:0001635	Congestive heart failure	6804	STX1A	ORPHA:904
HP:0001635	Congestive heart failure	7461	CLIP2	ORPHA:904
HP:0001635	Congestive heart failure	84277	DNAJC30	ORPHA:904
HP:0001635	Congestive heart failure	8468	FKBP6	ORPHA:904
HP:0001635	Congestive heart failure	5982	RFC2	ORPHA:904
HP:0001635	Congestive heart failure	2969	GTF2I	ORPHA:904
HP:0001635	Congestive heart failure	3984	LIMK1	ORPHA:904
HP:0001635	Congestive heart failure	9569	GTF2IRD1	ORPHA:904
HP:0001635	Congestive heart failure	155382	VPS37D	ORPHA:904
HP:0001635	Congestive heart failure	155368	METTL27	ORPHA:904
HP:0001635	Congestive heart failure	114049	BUD23	ORPHA:904
HP:0001635	Congestive heart failure	7458	EIF4H	ORPHA:904
HP:0001635	Congestive heart failure	84163	GTF2IRD2	ORPHA:904
HP:0001635	Congestive heart failure	9275	BCL7B	ORPHA:904
HP:0001635	Congestive heart failure	26608	TBL2	ORPHA:904
HP:0001635	Congestive heart failure	653361	NCF1	ORPHA:904
HP:0001635	Congestive heart failure	135886	TMEM270	ORPHA:904
HP:0001635	Congestive heart failure	51085	MLXIPL	ORPHA:904
HP:0001635	Congestive heart failure	9031	BAZ1B	ORPHA:904
HP:0001635	Congestive heart failure	2006	ELN	ORPHA:904
HP:0001635	Congestive heart failure	2006	ELN	ORPHA:90348
HP:0001635	Congestive heart failure	2006	ELN	OMIM:123700
HP:0001635	Congestive heart failure	81031	SLC2A10	ORPHA:3342
HP:0001635	Congestive heart failure	9719	ADAMTSL2	OMIM:231050
HP:0001635	Congestive heart failure	7486	WRN	ORPHA:902
HP:0001635	Congestive heart failure	4556	MT-TE	ORPHA:225
HP:0001635	Congestive heart failure	83475	DOHH	OMIM:620066
HP:0001635	Congestive heart failure	8048	CSRP3	OMIM:607482
HP:0001635	Congestive heart failure	8517	IKBKG	ORPHA:464
HP:0001635	Congestive heart failure	111	ADCY5	OMIM:606703
HP:0001635	Congestive heart failure	111	ADCY5	ORPHA:324588
HP:0001635	Congestive heart failure	2200	FBN1	OMIM:608328
HP:0001635	Congestive heart failure	2200	FBN1	OMIM:154700
HP:0001635	Congestive heart failure	79188	TMEM43	OMIM:604400
HP:0001635	Congestive heart failure	1674	DES	OMIM:604765
HP:0001635	Congestive heart failure	1674	DES	ORPHA:98909
HP:0001635	Congestive heart failure	10060	ABCC9	OMIM:608569
HP:0001635	Congestive heart failure	27068	PPA2	OMIM:617222
HP:0001635	Congestive heart failure	50485	SMARCAL1	ORPHA:1830
HP:0001635	Congestive heart failure	7276	TTR	ORPHA:85451
HP:0001635	Congestive heart failure	1356	CP	ORPHA:48818
HP:0001635	Congestive heart failure	2050	EPHB4	ORPHA:137667
HP:0001635	Congestive heart failure	5921	RASA1	ORPHA:137667
HP:0001635	Congestive heart failure	6901	TAFAZZIN	OMIM:302060
HP:0001635	Congestive heart failure	11155	LDB3	OMIM:601493
HP:0001635	Congestive heart failure	7139	TNNT2	OMIM:601494
HP:0001635	Congestive heart failure	3178	HNRNPA1	ORPHA:52430
HP:0001635	Congestive heart failure	7415	VCP	ORPHA:52430
HP:0001635	Congestive heart failure	3181	HNRNPA2B1	ORPHA:52430
HP:0001635	Congestive heart failure	5573	PRKAR1A	OMIM:160980
HP:0001635	Congestive heart failure	5573	PRKAR1A	ORPHA:1359
HP:0001635	Congestive heart failure	5573	PRKAR1A	ORPHA:615
HP:0001635	Congestive heart failure	57724	EPG5	OMIM:242840
HP:0001635	Congestive heart failure	590	BCHE	ORPHA:132
HP:0001635	Congestive heart failure	2717	GLA	OMIM:301500
HP:0001635	Congestive heart failure	2717	GLA	ORPHA:324
HP:0001635	Congestive heart failure	3423	IDS	OMIM:309900
HP:0001635	Congestive heart failure	2395	FXN	OMIM:229300
HP:0001635	Congestive heart failure	10516	FBLN5	ORPHA:90348
HP:0001635	Congestive heart failure	10516	FBLN5	ORPHA:90349
HP:0001635	Congestive heart failure	5832	ALDH18A1	ORPHA:90348
HP:0001635	Congestive heart failure	2720	GLB1	OMIM:230500
HP:0001635	Congestive heart failure	4052	LTBP1	ORPHA:90349
HP:0001635	Congestive heart failure	30008	EFEMP2	ORPHA:90349
HP:0001635	Congestive heart failure	654	BMP6	ORPHA:465508
HP:0001635	Congestive heart failure	3077	HFE	ORPHA:465508
HP:0001635	Congestive heart failure	3077	HFE	OMIM:235200
HP:0001635	Congestive heart failure	57817	HAMP	OMIM:613313
HP:0001635	Congestive heart failure	6314	ATXN7	ORPHA:94147
HP:0001635	Congestive heart failure	4615	MYD88	ORPHA:33226
HP:0001635	Congestive heart failure	1832	DSP	ORPHA:65282
HP:0001635	Congestive heart failure	1832	DSP	OMIM:607450
HP:0001635	Congestive heart failure	1832	DSP	OMIM:605676
HP:0001635	Congestive heart failure	57505	AARS2	OMIM:614096
HP:0001635	Congestive heart failure	81570	CLPB	OMIM:616271
HP:0001635	Congestive heart failure	2245	FGD1	ORPHA:915
HP:0001635	Congestive heart failure	7273	TTN	OMIM:611705
HP:0001635	Congestive heart failure	7273	TTN	ORPHA:324604
HP:0001635	Congestive heart failure	7273	TTN	OMIM:604145
HP:0001635	Congestive heart failure	84705	GTPBP3	ORPHA:444013
HP:0001635	Congestive heart failure	84705	GTPBP3	OMIM:616198
HP:0001635	Congestive heart failure	57190	SELENON	ORPHA:324604
HP:0001635	Congestive heart failure	91949	COG7	OMIM:608779
HP:0001635	Congestive heart failure	286053	NSMCE2	OMIM:617253
HP:0001635	Congestive heart failure	5351	PLOD1	OMIM:225400
HP:0001635	Congestive heart failure	5351	PLOD1	ORPHA:1900
HP:0001635	Congestive heart failure	498	ATP5F1A	OMIM:616045
HP:0001635	Congestive heart failure	7167	TPI1	OMIM:615512
HP:0001635	Congestive heart failure	5663	PSEN1	OMIM:613694
HP:0001635	Congestive heart failure	5664	PSEN2	OMIM:613697
HP:0001635	Congestive heart failure	92335	STRADA	ORPHA:500533
HP:0001635	Congestive heart failure	1756	DMD	OMIM:310200
HP:0001635	Congestive heart failure	1756	DMD	ORPHA:206546
HP:0001635	Congestive heart failure	2767	GNA11	ORPHA:428
HP:0001635	Congestive heart failure	846	CASR	ORPHA:428
HP:0001635	Congestive heart failure	22845	DOLK	ORPHA:91131
HP:0001635	Congestive heart failure	54790	TET2	ORPHA:75564
HP:0001635	Congestive heart failure	23451	SF3B1	ORPHA:75564
HP:0001635	Congestive heart failure	6442	SGCA	OMIM:608099
HP:0001635	Congestive heart failure	27125	AFF4	ORPHA:444077
HP:0001635	Congestive heart failure	1837	DTNA	OMIM:604169
HP:0001635	Congestive heart failure	3728	JUP	OMIM:601214
HP:0001635	Congestive heart failure	3728	JUP	ORPHA:34217
HP:0001635	Congestive heart failure	51103	NDUFAF1	OMIM:618234
HP:0001635	Congestive heart failure	5191	PEX7	OMIM:266500
HP:0001635	Congestive heart failure	5264	PHYH	OMIM:266500
HP:0001635	Congestive heart failure	57798	GATAD1	OMIM:614672
HP:0001635	Congestive heart failure	9342	SNAP29	ORPHA:66631
HP:0001635	Congestive heart failure	131118	DNAJC19	OMIM:610198
HP:0001635	Congestive heart failure	10560	SLC19A2	ORPHA:49827
HP:0001635	Congestive heart failure	50940	PDE11A	ORPHA:1359
HP:0001635	Congestive heart failure	64135	IFIH1	OMIM:182250
HP:0001635	Congestive heart failure	54539	NDUFB11	OMIM:301021
HP:0001635	Congestive heart failure	7019	TFAM	OMIM:617156
HP:0001635	Congestive heart failure	6331	SCN5A	ORPHA:1344
HP:0001635	Congestive heart failure	6331	SCN5A	ORPHA:871
HP:0001635	Congestive heart failure	4878	NPPA	ORPHA:1344
HP:0001635	Congestive heart failure	10616	RBCK1	OMIM:615895
HP:0001635	Congestive heart failure	1277	COL1A1	OMIM:166210
HP:0001635	Congestive heart failure	1278	COL1A2	OMIM:166210
HP:0001635	Congestive heart failure	9325	TRIP4	OMIM:616866
HP:0001635	Congestive heart failure	4634	MYL3	OMIM:608751
HP:0001635	Congestive heart failure	4547	MTTP	ORPHA:14
HP:0001635	Congestive heart failure	6329	SCN4A	ORPHA:682
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:192600
HP:0001635	Congestive heart failure	4624	MYH6	ORPHA:99103
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:613251
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:613252
HP:0001635	Congestive heart failure	859	CAV3	OMIM:192600
HP:0001635	Congestive heart failure	85366	MYLK2	OMIM:192600
HP:0001635	Congestive heart failure	2318	FLNC	OMIM:617047
HP:0001635	Congestive heart failure	64072	CDH23	ORPHA:91347
HP:0001635	Congestive heart failure	3762	KCNJ5	OMIM:613485
HP:0001635	Congestive heart failure	4204	MECP2	ORPHA:3077
HP:0001635	Congestive heart failure	6444	SGCD	OMIM:606685
HP:0001635	Congestive heart failure	650	BMP2	OMIM:235200
HP:0001635	Congestive heart failure	54795	TRPM4	ORPHA:871
HP:0001635	Congestive heart failure	1482	NKX2-5	ORPHA:871
HP:0001635	Congestive heart failure	1482	NKX2-5	ORPHA:99103
HP:0001635	Congestive heart failure	6324	SCN1B	ORPHA:871
HP:0001635	Congestive heart failure	57057	TBX20	ORPHA:99103
HP:0001635	Congestive heart failure	2626	GATA4	ORPHA:99103
HP:0001635	Congestive heart failure	2627	GATA6	ORPHA:99103
HP:0001635	Congestive heart failure	51241	COX16	OMIM:619355
HP:0001635	Congestive heart failure	6711	SPTBN1	OMIM:619475
HP:0001635	Congestive heart failure	7414	VCL	OMIM:613255
HP:0001635	Congestive heart failure	3032	HADHB	ORPHA:746
HP:0001635	Congestive heart failure	3030	HADHA	ORPHA:746
HP:0001635	Congestive heart failure	3030	HADHA	OMIM:609015
HP:0001635	Congestive heart failure	7134	TNNC1	OMIM:611879
HP:0001635	Congestive heart failure	7168	TPM1	OMIM:611878
HP:0001635	Congestive heart failure	10128	LRPPRC	ORPHA:70472
HP:0001635	Congestive heart failure	25915	NDUFAF3	ORPHA:70474
HP:0001635	Congestive heart failure	4714	NDUFB8	ORPHA:70474
HP:0001635	Congestive heart failure	4720	NDUFS2	ORPHA:70474
HP:0001635	Congestive heart failure	9997	SCO2	ORPHA:70474
HP:0001635	Congestive heart failure	6834	SURF1	ORPHA:70474
HP:0001635	Congestive heart failure	284252	KCTD1	OMIM:181270
HP:0001635	Congestive heart failure	64131	XYLT1	OMIM:264800
HP:0001635	Congestive heart failure	64132	XYLT2	OMIM:264800
HP:0001635	Congestive heart failure	368	ABCC6	OMIM:264800
HP:0001635	Congestive heart failure	368	ABCC6	OMIM:614473
HP:0001635	Congestive heart failure	60528	ELAC2	OMIM:615440
HP:0001635	Congestive heart failure	7137	TNNI3	OMIM:611880
HP:0001635	Congestive heart failure	7137	TNNI3	OMIM:613286
HP:0001635	Congestive heart failure	4976	OPA1	OMIM:616896
HP:0001635	Congestive heart failure	2658	GDF2	ORPHA:774
HP:0001635	Congestive heart failure	94	ACVRL1	ORPHA:774
HP:0001635	Congestive heart failure	4089	SMAD4	ORPHA:774
HP:0001635	Congestive heart failure	2022	ENG	ORPHA:774
HP:0001635	Congestive heart failure	3920	LAMP2	OMIM:300257
HP:0001635	Congestive heart failure	7018	TF	OMIM:209300
HP:0001635	Congestive heart failure	26503	SLC17A5	OMIM:269920
HP:0001635	Congestive heart failure	7716	VEZF1	OMIM:620247
HP:0001635	Congestive heart failure	10555	AGPAT2	ORPHA:528
HP:0001635	Congestive heart failure	284119	CAVIN1	ORPHA:528
HP:0001635	Congestive heart failure	26580	BSCL2	ORPHA:528
HP:0001635	Congestive heart failure	2353	FOS	ORPHA:528
HP:0001635	Congestive heart failure	857	CAV1	ORPHA:528
HP:0001635	Congestive heart failure	857	CAV1	ORPHA:220393
HP:0001635	Congestive heart failure	6223	RPS19	OMIM:105650
HP:0001635	Congestive heart failure	57538	ALPK3	OMIM:618052
HP:0001635	Congestive heart failure	115286	SLC25A26	OMIM:616794
HP:0001635	Congestive heart failure	523	ATP6V1A	OMIM:617403
HP:0001635	Congestive heart failure	203068	TUBB	ORPHA:2505
HP:0001635	Congestive heart failure	10982	MAPRE2	ORPHA:2505
HP:0001635	Congestive heart failure	1235	CCR6	ORPHA:220393
HP:0001635	Congestive heart failure	1490	CCN2	ORPHA:220393
HP:0001635	Congestive heart failure	3663	IRF5	ORPHA:220393
HP:0001635	Congestive heart failure	3123	HLA-DRB1	ORPHA:220393
HP:0001635	Congestive heart failure	5696	PSMB8	OMIM:256040
HP:0001635	Congestive heart failure	1829	DSG2	OMIM:612877
HP:0001635	Congestive heart failure	5728	PTEN	ORPHA:137608
HP:0001635	Congestive heart failure	6584	SLC22A5	OMIM:212140
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231222
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231226
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231214
HP:0001635	Congestive heart failure	779	CACNA1S	ORPHA:423
HP:0001635	Congestive heart failure	6261	RYR1	ORPHA:423
HP:0001635	Congestive heart failure	5250	SLC25A3	ORPHA:91130
HP:0001635	Congestive heart failure	57104	PNPLA2	ORPHA:565612
HP:0001635	Congestive heart failure	2548	GAA	ORPHA:308552
HP:0006687	Aortic tortuosity	4088	SMAD3	OMIM:613795
HP:0006687	Aortic tortuosity	4091	SMAD6	OMIM:614823
HP:0006687	Aortic tortuosity	7042	TGFB2	OMIM:614816
HP:0006687	Aortic tortuosity	81031	SLC2A10	OMIM:208050
HP:0006687	Aortic tortuosity	10526	IPO8	OMIM:619472
HP:0006687	Aortic tortuosity	8076	MFAP5	OMIM:616166
HP:0006689	Bacterial endocarditis	2629	GBA1	ORPHA:2072
HP:0006689	Bacterial endocarditis	5573	PRKAR1A	ORPHA:615
HP:0006689	Bacterial endocarditis	5573	PRKAR1A	OMIM:255960
HP:0032541	Knuckle pad	2706	GJB2	OMIM:124500
HP:0032541	Knuckle pad	2706	GJB2	OMIM:149200
HP:0032541	Knuckle pad	2706	GJB2	ORPHA:2698
HP:0032541	Knuckle pad	126695	KDF1	OMIM:617337
HP:0032541	Knuckle pad	3848	KRT1	OMIM:146590
HP:0032541	Knuckle pad	3848	KRT1	ORPHA:2199
HP:0032541	Knuckle pad	3848	KRT1	ORPHA:530838
HP:0032541	Knuckle pad	3868	KRT16	ORPHA:2199
HP:0032541	Knuckle pad	3857	KRT9	ORPHA:2199
HP:0032541	Knuckle pad	4014	LORICRIN	ORPHA:79395
HP:0032541	Knuckle pad	831	CAST	OMIM:616295
HP:0032541	Knuckle pad	56916	SMARCAD1	OMIM:129200
HP:0032542	Exacerbated by pregnancy	2022	ENG	OMIM:187300
HP:0032543	Lithoptysis	25981	DNAH1	ORPHA:244
HP:0032543	Lithoptysis	115948	ODAD3	ORPHA:244
HP:0032543	Lithoptysis	54768	HYDIN	ORPHA:244
HP:0032543	Lithoptysis	352909	DNAAF3	ORPHA:244
HP:0032543	Lithoptysis	27148	STK36	ORPHA:244
HP:0032543	Lithoptysis	51314	NME8	ORPHA:244
HP:0032543	Lithoptysis	92749	DRC1	ORPHA:244
HP:0032543	Lithoptysis	54970	TTC12	ORPHA:244
HP:0032543	Lithoptysis	152110	NEK10	ORPHA:244
HP:0032543	Lithoptysis	8481	OFD1	ORPHA:244
HP:0032543	Lithoptysis	2302	FOXJ1	ORPHA:244
HP:0032543	Lithoptysis	221421	RSPH9	ORPHA:244
HP:0032543	Lithoptysis	85478	CCDC65	ORPHA:244
HP:0032543	Lithoptysis	55036	CCDC40	ORPHA:244
HP:0032543	Lithoptysis	51364	ZMYND10	ORPHA:244
HP:0032543	Lithoptysis	64446	DNAI2	ORPHA:244
HP:0032543	Lithoptysis	6674	SPAG1	ORPHA:244
HP:0032543	Lithoptysis	83544	DNAL1	ORPHA:244
HP:0032543	Lithoptysis	89765	RSPH1	ORPHA:244
HP:0032543	Lithoptysis	83538	ODAD4	ORPHA:244
HP:0032543	Lithoptysis	200373	CFAP221	ORPHA:244
HP:0032543	Lithoptysis	374407	DNAJB13	ORPHA:244
HP:0032543	Lithoptysis	55172	DNAAF2	ORPHA:244
HP:0032543	Lithoptysis	161582	DNAAF4	ORPHA:244
HP:0032543	Lithoptysis	2622	GAS8	ORPHA:244
HP:0032543	Lithoptysis	23639	DNAAF11	ORPHA:244
HP:0032543	Lithoptysis	27019	DNAI1	ORPHA:244
HP:0032543	Lithoptysis	345895	RSPH4A	ORPHA:244
HP:0032543	Lithoptysis	54919	DNAAF5	ORPHA:244
HP:0032543	Lithoptysis	6103	RPGR	ORPHA:244
HP:0032543	Lithoptysis	388389	CCDC103	ORPHA:244
HP:0032543	Lithoptysis	93233	ODAD1	ORPHA:244
HP:0032543	Lithoptysis	55130	ODAD2	ORPHA:244
HP:0032543	Lithoptysis	1767	DNAH5	ORPHA:244
HP:0032543	Lithoptysis	83861	RSPH3	ORPHA:244
HP:0032543	Lithoptysis	345643	MCIDAS	ORPHA:244
HP:0032543	Lithoptysis	56683	CFAP298	ORPHA:244
HP:0032543	Lithoptysis	79925	SPEF2	ORPHA:244
HP:0032543	Lithoptysis	10309	CCNO	ORPHA:244
HP:0032543	Lithoptysis	115399	LRRC56	ORPHA:244
HP:0032543	Lithoptysis	139212	DNAAF6	ORPHA:244
HP:0032543	Lithoptysis	123872	DNAAF1	ORPHA:244
HP:0032543	Lithoptysis	85016	CFAP300	ORPHA:244
HP:0032543	Lithoptysis	339829	CCDC39	ORPHA:244
HP:0032543	Lithoptysis	8701	DNAH11	ORPHA:244
HP:0032543	Lithoptysis	1770	DNAH9	ORPHA:244
HP:0032543	Lithoptysis	246176	GAS2L2	ORPHA:244
HP:0032545	Abdominal rigidity	5314	PKHD1	ORPHA:53035
HP:0032548	Increased placental thickness	3339	HSPG2	ORPHA:1865
HP:0006690	Myocardial calcification	5167	ENPP1	ORPHA:51608
HP:0006690	Myocardial calcification	368	ABCC6	ORPHA:51608
HP:0006691	Pulmonic valve myxoma	5573	PRKAR1A	ORPHA:615
HP:0006691	Pulmonic valve myxoma	5573	PRKAR1A	OMIM:255960
HP:0006692	Short chordae tendineae of the tricuspid valve	2316	FLNA	OMIM:314400
HP:0012110	Hypoplasia of the pons	79042	TSEN34	ORPHA:2524
HP:0012110	Hypoplasia of the pons	80746	TSEN2	ORPHA:2524
HP:0012110	Hypoplasia of the pons	51091	SEPSECS	ORPHA:2524
HP:0012110	Hypoplasia of the pons	5518	PPP2R1A	ORPHA:457284
HP:0012110	Hypoplasia of the pons	6311	ATXN2	ORPHA:98756
HP:0012110	Hypoplasia of the pons	5373	PMM2	OMIM:212065
HP:0012110	Hypoplasia of the pons	29925	GMPPB	OMIM:615350
HP:0012110	Hypoplasia of the pons	29925	GMPPB	ORPHA:370959
HP:0012110	Hypoplasia of the pons	1182	CLCN3	OMIM:619512
HP:0012110	Hypoplasia of the pons	55773	TBC1D23	OMIM:617695
HP:0012110	Hypoplasia of the pons	94005	PIGS	OMIM:618143
HP:0012110	Hypoplasia of the pons	2972	BRF1	OMIM:616202
HP:0012110	Hypoplasia of the pons	2972	BRF1	ORPHA:444072
HP:0012110	Hypoplasia of the pons	8573	CASK	OMIM:300749
HP:0012110	Hypoplasia of the pons	11340	EXOSC8	ORPHA:2254
HP:0012110	Hypoplasia of the pons	5393	EXOSC9	ORPHA:2254
HP:0012110	Hypoplasia of the pons	23287	AGTPBP1	ORPHA:2254
HP:0012110	Hypoplasia of the pons	23287	AGTPBP1	OMIM:618276
HP:0012110	Hypoplasia of the pons	51010	EXOSC3	ORPHA:2254
HP:0012110	Hypoplasia of the pons	7443	VRK1	ORPHA:2254
HP:0012110	Hypoplasia of the pons	7443	VRK1	OMIM:607596
HP:0012110	Hypoplasia of the pons	91137	SLC25A46	ORPHA:2254
HP:0012110	Hypoplasia of the pons	91137	SLC25A46	OMIM:619303
HP:0012110	Hypoplasia of the pons	85440	DOCK7	ORPHA:411986
HP:0012110	Hypoplasia of the pons	85440	DOCK7	OMIM:615859
HP:0012110	Hypoplasia of the pons	25914	RTTN	ORPHA:468631
HP:0012110	Hypoplasia of the pons	5649	RELN	OMIM:257320
HP:0012110	Hypoplasia of the pons	23126	POGZ	ORPHA:468678
HP:0012110	Hypoplasia of the pons	9289	ADGRG1	ORPHA:101070
HP:0012110	Hypoplasia of the pons	9289	ADGRG1	OMIM:606854
HP:0012110	Hypoplasia of the pons	5728	PTEN	ORPHA:101070
HP:0012110	Hypoplasia of the pons	724066	ATXN8	ORPHA:98760
HP:0012110	Hypoplasia of the pons	6315	ATXN8OS	ORPHA:98760
HP:0012110	Hypoplasia of the pons	79147	FKRP	ORPHA:370959
HP:0012110	Hypoplasia of the pons	79147	FKRP	OMIM:613153
HP:0012110	Hypoplasia of the pons	29954	POMT2	ORPHA:370959
HP:0012110	Hypoplasia of the pons	84197	POMK	ORPHA:370959
HP:0012110	Hypoplasia of the pons	55624	POMGNT1	ORPHA:370959
HP:0012110	Hypoplasia of the pons	55624	POMGNT1	OMIM:613151
HP:0012110	Hypoplasia of the pons	10585	POMT1	ORPHA:370959
HP:0012110	Hypoplasia of the pons	10733	PLK4	OMIM:616171
HP:0012110	Hypoplasia of the pons	51112	TRAPPC12	ORPHA:500144
HP:0012110	Hypoplasia of the pons	51112	TRAPPC12	OMIM:617669
HP:0012110	Hypoplasia of the pons	283989	TSEN54	OMIM:225753
HP:0012110	Hypoplasia of the pons	283989	TSEN54	OMIM:277470
HP:0012110	Hypoplasia of the pons	116461	TSEN15	OMIM:617026
HP:0012110	Hypoplasia of the pons	1630	DCC	OMIM:617542
HP:0012110	Hypoplasia of the pons	28514	DLL1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2253	FGF8	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6496	SIX3	ORPHA:280195
HP:0012110	Hypoplasia of the pons	7050	TGIF1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	4838	NODAL	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6469	SHH	ORPHA:280195
HP:0012110	Hypoplasia of the pons	7546	ZIC2	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6491	STIL	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2619	GAS1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	84976	DISP1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2736	GLI2	ORPHA:280195
HP:0012110	Hypoplasia of the pons	8928	FOXH1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	5727	PTCH1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	50937	CDON	ORPHA:280195
HP:0012110	Hypoplasia of the pons	473	RERE	OMIM:616975
HP:0012110	Hypoplasia of the pons	4190	MDH1	OMIM:618959
HP:0012110	Hypoplasia of the pons	10297	APC2	OMIM:618677
HP:0012110	Hypoplasia of the pons	4081	MAB21L1	OMIM:618479
HP:0012110	Hypoplasia of the pons	9562	MINPP1	OMIM:619527
HP:0012110	Hypoplasia of the pons	29072	SETD2	OMIM:620157
HP:0012110	Hypoplasia of the pons	29072	SETD2	OMIM:620155
HP:0012110	Hypoplasia of the pons	64221	ROBO3	OMIM:607313
HP:0012110	Hypoplasia of the pons	271	AMPD2	OMIM:615809
HP:0012110	Hypoplasia of the pons	57231	SNX14	ORPHA:397709
HP:0012110	Hypoplasia of the pons	6595	SMARCA2	OMIM:619293
HP:0012110	Hypoplasia of the pons	347733	TUBB2B	ORPHA:467166
HP:0012110	Hypoplasia of the pons	347733	TUBB2B	ORPHA:300573
HP:0012110	Hypoplasia of the pons	7846	TUBA1A	ORPHA:467166
HP:0012110	Hypoplasia of the pons	10381	TUBB3	ORPHA:467166
HP:0012110	Hypoplasia of the pons	440	ASNS	OMIM:615574
HP:0012110	Hypoplasia of the pons	9215	LARGE1	OMIM:613154
HP:0012110	Hypoplasia of the pons	10273	STUB1	ORPHA:412057
HP:0012110	Hypoplasia of the pons	738	VPS51	OMIM:618606
HP:0012110	Hypoplasia of the pons	23499	MACF1	OMIM:618325
HP:0012110	Hypoplasia of the pons	9439	MED23	OMIM:614249
HP:0012110	Hypoplasia of the pons	114034	TOE1	OMIM:614969
HP:0012110	Hypoplasia of the pons	10195	ALG3	ORPHA:79321
HP:0012110	Hypoplasia of the pons	148789	B3GALNT2	OMIM:615181
HP:0012110	Hypoplasia of the pons	191	AHCY	ORPHA:88618
HP:0012110	Hypoplasia of the pons	51645	PPIL1	OMIM:619301
HP:0012110	Hypoplasia of the pons	8884	SLC5A6	OMIM:618973
HP:0012110	Hypoplasia of the pons	92935	MARS2	OMIM:616430
HP:0012110	Hypoplasia of the pons	7471	WNT1	OMIM:615220
HP:0012110	Hypoplasia of the pons	7545	ZIC1	OMIM:618736
HP:0012110	Hypoplasia of the pons	10243	GPHN	OMIM:615501
HP:0012110	Hypoplasia of the pons	9181	ARHGEF2	OMIM:617523
HP:0012110	Hypoplasia of the pons	51013	EXOSC1	OMIM:619304
HP:0012110	Hypoplasia of the pons	7319	UBE2A	ORPHA:163956
HP:0012110	Hypoplasia of the pons	57724	EPG5	ORPHA:1493
HP:0012110	Hypoplasia of the pons	27445	PCLO	OMIM:608027
HP:0012110	Hypoplasia of the pons	5297	PI4KA	OMIM:619708
HP:0012110	Hypoplasia of the pons	59336	PRDM13	OMIM:619909
HP:0012111	Abnormality of circulating glucocorticoid level	84733	CBX2	OMIM:613080
HP:0012111	Abnormality of circulating glucocorticoid level	4221	MEN1	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	4221	MEN1	OMIM:131100
HP:0012111	Abnormality of circulating glucocorticoid level	1027	CDKN1B	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1027	CDKN1B	ORPHA:276152
HP:0012111	Abnormality of circulating glucocorticoid level	1026	CDKN1A	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1030	CDKN2B	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1031	CDKN2C	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	3767	KCNJ11	ORPHA:79644
HP:0012111	Abnormality of circulating glucocorticoid level	5979	RET	OMIM:171400
HP:0012111	Abnormality of circulating glucocorticoid level	3350	HTR1A	OMIM:614674
HP:0012111	Abnormality of circulating glucocorticoid level	326	AIRE	ORPHA:3453
HP:0012111	Abnormality of circulating glucocorticoid level	79798	ARMC5	ORPHA:189427
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	ORPHA:189427
HP:0012111	Abnormality of circulating glucocorticoid level	5566	PRKACA	ORPHA:189439
HP:0012111	Abnormality of circulating glucocorticoid level	8622	PDE8B	ORPHA:189439
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	ORPHA:189439
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	OMIM:610489
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	50940	PDE11A	ORPHA:189439
HP:0012111	Abnormality of circulating glucocorticoid level	50940	PDE11A	OMIM:610475
HP:0012111	Abnormality of circulating glucocorticoid level	84196	USP48	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	7157	TP53	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	7157	TP53	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	9101	USP8	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	64072	CDH23	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	2908	NR3C1	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	673	BRAF	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	546	ATRX	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	84133	ZNRF3	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	1499	CTNNB1	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	1029	CDKN2A	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	7015	TERT	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	9095	TBX19	ORPHA:199296
HP:0012111	Abnormality of circulating glucocorticoid level	9095	TBX19	OMIM:201400
HP:0012111	Abnormality of circulating glucocorticoid level	4791	NFKB2	ORPHA:293978
HP:0012111	Abnormality of circulating glucocorticoid level	5122	PCSK1	OMIM:600955
HP:0012111	Abnormality of circulating glucocorticoid level	5447	POR	OMIM:201750
HP:0012111	Abnormality of circulating glucocorticoid level	5447	POR	ORPHA:95699
HP:0012111	Abnormality of circulating glucocorticoid level	4158	MC2R	OMIM:202200
HP:0012111	Abnormality of circulating glucocorticoid level	4158	MC2R	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	215	ABCD1	ORPHA:139396
HP:0012111	Abnormality of circulating glucocorticoid level	1583	CYP11A1	ORPHA:168558
HP:0012111	Abnormality of circulating glucocorticoid level	1583	CYP11A1	ORPHA:289548
HP:0012111	Abnormality of circulating glucocorticoid level	8314	BAP1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	4771	NF2	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6598	SMARCB1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	5155	PDGFB	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	84231	TRAF7	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6608	SMO	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	207	AKT1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	5290	PIK3CA	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	51684	SUFU	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6605	SMARCE1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	8086	AAAS	OMIM:231550
HP:0012111	Abnormality of circulating glucocorticoid level	56246	MRAP	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	56246	MRAP	OMIM:607398
HP:0012111	Abnormality of circulating glucocorticoid level	6770	STAR	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	23530	NNT	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	23530	NNT	OMIM:614736
HP:0012111	Abnormality of circulating glucocorticoid level	10587	TXNRD2	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	10587	TXNRD2	OMIM:617825
HP:0012111	Abnormality of circulating glucocorticoid level	190	NR0B1	OMIM:300200
HP:0012111	Abnormality of circulating glucocorticoid level	5443	POMC	OMIM:609734
HP:0012111	Abnormality of circulating glucocorticoid level	55278	QRSL1	OMIM:618835
HP:0012111	Abnormality of circulating glucocorticoid level	5188	GATB	OMIM:618838
HP:0012111	Abnormality of circulating glucocorticoid level	866	SERPINA6	OMIM:611489
HP:0012111	Abnormality of circulating glucocorticoid level	3284	HSD3B2	ORPHA:90791
HP:0012111	Abnormality of circulating glucocorticoid level	283459	GATC	OMIM:618839
HP:0012111	Abnormality of circulating glucocorticoid level	2737	GLI3	OMIM:146510
HP:0012111	Abnormality of circulating glucocorticoid level	1584	CYP11B1	ORPHA:90795
HP:0012111	Abnormality of circulating glucocorticoid level	3291	HSD11B2	ORPHA:320
HP:0012111	Abnormality of circulating glucocorticoid level	1528	CYB5A	ORPHA:90796
HP:0012111	Abnormality of circulating glucocorticoid level	1586	CYP17A1	ORPHA:90796
HP:0012111	Abnormality of circulating glucocorticoid level	1585	CYP11B2	ORPHA:556030
HP:0012112	Abnormal circulating corticosterone level	1528	CYB5A	ORPHA:90796
HP:0012112	Abnormal circulating corticosterone level	1586	CYP17A1	ORPHA:90796
HP:0012112	Abnormal circulating corticosterone level	1585	CYP11B2	ORPHA:556030
HP:0012112	Abnormal circulating corticosterone level	5447	POR	ORPHA:95699
HP:0012113	Abnormal circulating creatine concentration	64218	SEMA4A	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	657	BMPR1A	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	6224	RPS20	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	6535	SLC6A8	ORPHA:52503
HP:0012113	Abnormal circulating creatine concentration	23534	TNPO3	OMIM:608423
HP:0012114	Endometrial carcinoma	4292	MLH1	ORPHA:587
HP:0012114	Endometrial carcinoma	2956	MSH6	ORPHA:587
HP:0012114	Endometrial carcinoma	2956	MSH6	OMIM:614350
HP:0012114	Endometrial carcinoma	2956	MSH6	OMIM:608089
HP:0012114	Endometrial carcinoma	4436	MSH2	ORPHA:587
HP:0012114	Endometrial carcinoma	10483	SEC23B	ORPHA:201
HP:0012114	Endometrial carcinoma	5728	PTEN	ORPHA:201
HP:0012114	Endometrial carcinoma	6390	SDHB	ORPHA:201
HP:0012114	Endometrial carcinoma	6392	SDHD	ORPHA:201
HP:0012114	Endometrial carcinoma	6391	SDHC	ORPHA:201
HP:0012114	Endometrial carcinoma	207	AKT1	ORPHA:201
HP:0012114	Endometrial carcinoma	205717	USF3	ORPHA:201
HP:0012114	Endometrial carcinoma	5290	PIK3CA	ORPHA:201
HP:0012114	Endometrial carcinoma	100144748	KLLN	ORPHA:201
HP:0012114	Endometrial carcinoma	388662	SLC6A17	ORPHA:457212
HP:0012114	Endometrial carcinoma	5424	POLD1	OMIM:612591
HP:0012114	Endometrial carcinoma	5424	POLD1	ORPHA:447877
HP:0012114	Endometrial carcinoma	26585	GREM1	ORPHA:157794
HP:0012114	Endometrial carcinoma	657	BMPR1A	ORPHA:157794
HP:0012114	Endometrial carcinoma	4913	NTHL1	ORPHA:454840
HP:0012114	Endometrial carcinoma	4913	NTHL1	OMIM:616415
HP:0012114	Endometrial carcinoma	4072	EPCAM	OMIM:613244
HP:0012114	Endometrial carcinoma	5395	PMS2	OMIM:614337
HP:0012114	Endometrial carcinoma	5426	POLE	ORPHA:447877
HP:0012114	Endometrial carcinoma	999	CDH1	OMIM:608089
HP:0012114	Endometrial carcinoma	4437	MSH3	OMIM:608089
HP:0012114	Endometrial carcinoma	27030	MLH3	OMIM:608089
HP:0012115	Hepatitis	695	BTK	OMIM:300755
HP:0012115	Hepatitis	695	BTK	OMIM:307200
HP:0012115	Hepatitis	10068	IL18BP	OMIM:618549
HP:0012115	Hepatitis	3875	KRT18	OMIM:215600
HP:0012115	Hepatitis	331	XIAP	OMIM:308240
HP:0012115	Hepatitis	4068	SH2D1A	OMIM:308240
HP:0012115	Hepatitis	4261	CIITA	OMIM:209920
HP:0012115	Hepatitis	5994	RFXAP	OMIM:209920
HP:0012115	Hepatitis	5993	RFX5	OMIM:209920
HP:0012115	Hepatitis	8625	RFXANK	OMIM:209920
HP:0012115	Hepatitis	3514	IGKC	ORPHA:183675
HP:0012115	Hepatitis	3501	IGHG2	ORPHA:183675
HP:0012115	Hepatitis	7157	TP53	OMIM:114550
HP:0012115	Hepatitis	4233	MET	OMIM:114550
HP:0012115	Hepatitis	8312	AXIN1	OMIM:114550
HP:0012115	Hepatitis	5290	PIK3CA	OMIM:114550
HP:0012115	Hepatitis	841	CASP8	OMIM:114550
HP:0012115	Hepatitis	5157	PDGFRL	OMIM:114550
HP:0012115	Hepatitis	3482	IGF2R	OMIM:114550
HP:0012115	Hepatitis	324	APC	OMIM:114550
HP:0012115	Hepatitis	1499	CTNNB1	OMIM:114550
HP:0012115	Hepatitis	7840	ALMS1	ORPHA:64
HP:0012115	Hepatitis	355	FAS	ORPHA:3261
HP:0012115	Hepatitis	356	FASLG	ORPHA:3261
HP:0012115	Hepatitis	5580	PRKCD	ORPHA:3261
HP:0012115	Hepatitis	843	CASP10	ORPHA:3261
HP:0012115	Hepatitis	10125	RASGRP1	ORPHA:3261
HP:0012115	Hepatitis	538	ATP7A	ORPHA:198
HP:0012115	Hepatitis	6772	STAT1	ORPHA:391487
HP:0012115	Hepatitis	10043	TOM1	ORPHA:391487
HP:0012115	Hepatitis	5265	SERPINA1	ORPHA:60
HP:0012115	Hepatitis	9420	CYP7B1	OMIM:613812
HP:0012115	Hepatitis	50943	FOXP3	OMIM:304790
HP:0012115	Hepatitis	50943	FOXP3	ORPHA:37042
HP:0012115	Hepatitis	9780	PIEZO1	OMIM:194380
HP:0012115	Hepatitis	7174	TPP2	ORPHA:444463
HP:0012115	Hepatitis	2990	GUSB	ORPHA:584
HP:0012115	Hepatitis	3594	IL12RB1	ORPHA:186
HP:0012115	Hepatitis	23534	TNPO3	ORPHA:186
HP:0012115	Hepatitis	3592	IL12A	ORPHA:186
HP:0012115	Hepatitis	6689	SPIB	ORPHA:186
HP:0012115	Hepatitis	5450	POU2AF1	ORPHA:186
HP:0012115	Hepatitis	9966	TNFSF15	ORPHA:186
HP:0012115	Hepatitis	79258	MMEL1	ORPHA:186
HP:0012115	Hepatitis	3663	IRF5	ORPHA:186
HP:0012115	Hepatitis	57511	COG6	ORPHA:363523
HP:0012115	Hepatitis	83737	ITCH	OMIM:613385
HP:0012115	Hepatitis	83737	ITCH	ORPHA:228426
HP:0012115	Hepatitis	716	C1S	OMIM:613783
HP:0012115	Hepatitis	169792	GLIS3	OMIM:610199
HP:0012115	Hepatitis	64135	IFIH1	OMIM:615846
HP:0012115	Hepatitis	23729	SHPK	ORPHA:440713
HP:0012115	Hepatitis	915	CD3D	ORPHA:169160
HP:0012115	Hepatitis	916	CD3E	ORPHA:169160
HP:0012115	Hepatitis	919	CD247	ORPHA:169160
HP:0012115	Hepatitis	9095	TBX19	ORPHA:199296
HP:0012115	Hepatitis	2859	GPR35	ORPHA:171
HP:0012115	Hepatitis	10507	SEMA4D	ORPHA:171
HP:0012115	Hepatitis	4485	MST1	ORPHA:171
HP:0012115	Hepatitis	6925	TCF4	ORPHA:171
HP:0012115	Hepatitis	5297	PI4KA	ORPHA:436252
HP:0012115	Hepatitis	1581	CYP7A1	ORPHA:209902
HP:0012115	Hepatitis	2778	GNAS	ORPHA:562
HP:0012115	Hepatitis	6850	SYK	OMIM:619381
HP:0012115	Hepatitis	84818	IL17RC	ORPHA:1334
HP:0012115	Hepatitis	64581	CLEC7A	ORPHA:1334
HP:0012115	Hepatitis	23765	IL17RA	ORPHA:1334
HP:0012115	Hepatitis	10758	TRAF3IP2	ORPHA:1334
HP:0012115	Hepatitis	112744	IL17F	ORPHA:1334
HP:0012115	Hepatitis	54	ACP5	ORPHA:1855
HP:0012115	Hepatitis	6929	TCF3	ORPHA:33110
HP:0012115	Hepatitis	973	CD79A	ORPHA:33110
HP:0012115	Hepatitis	974	CD79B	ORPHA:33110
HP:0012115	Hepatitis	3543	IGLL1	ORPHA:33110
HP:0012115	Hepatitis	3507	IGHM	ORPHA:33110
HP:0012115	Hepatitis	29760	BLNK	ORPHA:33110
HP:0012115	Hepatitis	5295	PIK3R1	ORPHA:33110
HP:0012115	Hepatitis	56262	LRRC8A	ORPHA:33110
HP:0012115	Hepatitis	57217	TTC7A	OMIM:243150
HP:0012115	Hepatitis	84342	COG8	OMIM:611182
HP:0012115	Hepatitis	23600	AMACR	ORPHA:79095
HP:0012115	Hepatitis	23600	AMACR	OMIM:214950
HP:0012115	Hepatitis	80270	HSD3B7	OMIM:607765
HP:0012115	Hepatitis	63894	VIPAS39	OMIM:613404
HP:0012115	Hepatitis	26276	VPS33B	OMIM:208085
HP:0012115	Hepatitis	6718	AKR1D1	ORPHA:79303
HP:0012115	Hepatitis	540	ATP7B	ORPHA:905
HP:0012115	Hepatitis	10166	SLC25A15	OMIM:238970
HP:0012115	Hepatitis	721	C4B	OMIM:614379
HP:0012115	Hepatitis	326	AIRE	OMIM:240300
HP:0012115	Hepatitis	6499	SKIC2	OMIM:614602
HP:0012115	Hepatitis	5236	PGM1	OMIM:614921
HP:0012115	Hepatitis	3043	HBB	ORPHA:231226
HP:0012115	Hepatitis	959	CD40LG	OMIM:308230
HP:0012115	Hepatitis	50615	IL21R	OMIM:615207
HP:0012116	Abnormal circulating albumin concentration	83483	PLVAP	OMIM:618183
HP:0012116	Abnormal circulating albumin concentration	3376	IARS1	OMIM:617093
HP:0012116	Abnormal circulating albumin concentration	10785	WDR4	OMIM:618347
HP:0012116	Abnormal circulating albumin concentration	55746	NUP133	OMIM:618349
HP:0012116	Abnormal circulating albumin concentration	55746	NUP133	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	84942	WDR73	OMIM:251300
HP:0012116	Abnormal circulating albumin concentration	55775	TDP1	ORPHA:94124
HP:0012116	Abnormal circulating albumin concentration	55775	TDP1	OMIM:607250
HP:0012116	Abnormal circulating albumin concentration	5551	PRF1	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	5551	PRF1	OMIM:603553
HP:0012116	Abnormal circulating albumin concentration	8676	STX11	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	201294	UNC13D	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	6813	STXBP2	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	58484	NLRC4	OMIM:616050
HP:0012116	Abnormal circulating albumin concentration	23395	LARS2	OMIM:617021
HP:0012116	Abnormal circulating albumin concentration	162	AP1B1	OMIM:242150
HP:0012116	Abnormal circulating albumin concentration	396	ARHGDIA	OMIM:615244
HP:0012116	Abnormal circulating albumin concentration	396	ARHGDIA	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	1294	COL7A1	ORPHA:89842
HP:0012116	Abnormal circulating albumin concentration	65082	VPS33A	OMIM:617303
HP:0012116	Abnormal circulating albumin concentration	65082	VPS33A	ORPHA:505248
HP:0012116	Abnormal circulating albumin concentration	3459	IFNGR1	OMIM:209950
HP:0012116	Abnormal circulating albumin concentration	57122	NUP107	OMIM:616730
HP:0012116	Abnormal circulating albumin concentration	57122	NUP107	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	8526	DGKE	OMIM:615008
HP:0012116	Abnormal circulating albumin concentration	331	XIAP	OMIM:308240
HP:0012116	Abnormal circulating albumin concentration	4068	SH2D1A	OMIM:308240
HP:0012116	Abnormal circulating albumin concentration	4868	NPHS1	OMIM:256300
HP:0012116	Abnormal circulating albumin concentration	4868	NPHS1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23607	CD2AP	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9688	NUP93	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	4643	MYO1E	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	4643	MYO1E	OMIM:614131
HP:0012116	Abnormal circulating albumin concentration	64423	INF2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	26130	GAPVD1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7490	WT1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51479	ANKFY1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	54443	ANLN	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5800	PTPRO	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5800	PTPRO	OMIM:614196
HP:0012116	Abnormal circulating albumin concentration	286204	CRB2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23165	NUP205	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	2013	EMP2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79023	NUP37	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51196	PLCE1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51196	PLCE1	OMIM:610725
HP:0012116	Abnormal circulating albumin concentration	79902	NUP85	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	1285	COL4A3	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79934	COQ8B	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79934	COQ8B	OMIM:615573
HP:0012116	Abnormal circulating albumin concentration	23279	NUP160	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9863	MAGI2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9863	MAGI2	OMIM:617609
HP:0012116	Abnormal circulating albumin concentration	81	ACTN4	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	81	ACTN4	OMIM:603278
HP:0012116	Abnormal circulating albumin concentration	7225	TRPC6	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	8542	APOL1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	54885	TBC1D8B	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7827	NPHS2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7827	NPHS2	OMIM:600995
HP:0012116	Abnormal circulating albumin concentration	83478	ARHGAP24	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23500	DAAM2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5076	PAX2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	55687	TRMU	OMIM:613070
HP:0012116	Abnormal circulating albumin concentration	2859	GPR35	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	10507	SEMA4D	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	4485	MST1	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	6925	TCF4	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	4089	SMAD4	OMIM:174900
HP:0012116	Abnormal circulating albumin concentration	657	BMPR1A	OMIM:174900
HP:0012116	Abnormal circulating albumin concentration	657	BMPR1A	ORPHA:79076
HP:0012116	Abnormal circulating albumin concentration	6578	SLCO2A1	OMIM:614441
HP:0012116	Abnormal circulating albumin concentration	100131801	PET100	OMIM:619055
HP:0012116	Abnormal circulating albumin concentration	7019	TFAM	OMIM:617156
HP:0012116	Abnormal circulating albumin concentration	3394	IRF8	OMIM:226990
HP:0012116	Abnormal circulating albumin concentration	11232	POLG2	OMIM:618528
HP:0012116	Abnormal circulating albumin concentration	191	AHCY	OMIM:613752
HP:0012116	Abnormal circulating albumin concentration	191	AHCY	ORPHA:88618
HP:0012116	Abnormal circulating albumin concentration	26007	TKFC	OMIM:618805
HP:0012116	Abnormal circulating albumin concentration	1716	DGUOK	OMIM:251880
HP:0012116	Abnormal circulating albumin concentration	1717	DHCR7	OMIM:270400
HP:0012116	Abnormal circulating albumin concentration	4547	MTTP	ORPHA:14
HP:0012116	Abnormal circulating albumin concentration	567	B2M	OMIM:241600
HP:0012116	Abnormal circulating albumin concentration	54840	APTX	OMIM:208920
HP:0012116	Abnormal circulating albumin concentration	4645	MYO5B	OMIM:619868
HP:0012116	Abnormal circulating albumin concentration	5728	PTEN	ORPHA:79076
HP:0012116	Abnormal circulating albumin concentration	950	SCARB2	OMIM:254900
HP:0012116	Abnormal circulating albumin concentration	79053	ALG8	OMIM:608104
HP:0012116	Abnormal circulating albumin concentration	55644	OSGEP	OMIM:617729
HP:0012116	Abnormal circulating albumin concentration	5373	PMM2	OMIM:212065
HP:0012116	Abnormal circulating albumin concentration	5373	PMM2	ORPHA:79318
HP:0012116	Abnormal circulating albumin concentration	51128	SAR1B	OMIM:246700
HP:0012116	Abnormal circulating albumin concentration	8879	SGPL1	OMIM:617575
HP:0012116	Abnormal circulating albumin concentration	213	ALB	OMIM:616000
HP:0012116	Abnormal circulating albumin concentration	213	ALB	ORPHA:86816
HP:0012116	Abnormal circulating albumin concentration	23533	PIK3R5	ORPHA:64753
HP:0012116	Abnormal circulating albumin concentration	23064	SETX	ORPHA:64753
HP:0012116	Abnormal circulating albumin concentration	10056	FARSB	OMIM:613658
HP:0012116	Abnormal circulating albumin concentration	2335	FN1	ORPHA:84090
HP:0012116	Abnormal circulating albumin concentration	3675	ITGA3	OMIM:614748
HP:0012116	Abnormal circulating albumin concentration	56052	ALG1	ORPHA:79327
HP:0012116	Abnormal circulating albumin concentration	3594	IL12RB1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	23534	TNPO3	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	3592	IL12A	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	6689	SPIB	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	5450	POU2AF1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	9966	TNFSF15	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	79258	MMEL1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	3663	IRF5	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	100147744	RNU7-1	OMIM:619487
HP:0012116	Abnormal circulating albumin concentration	10165	SLC25A13	ORPHA:247598
HP:0012116	Abnormal circulating albumin concentration	10165	SLC25A13	ORPHA:247585
HP:0012116	Abnormal circulating albumin concentration	540	ATP7B	OMIM:277900
HP:0012116	Abnormal circulating albumin concentration	4351	MPI	ORPHA:79319
HP:0012116	Abnormal circulating albumin concentration	4351	MPI	OMIM:602579
HP:0012116	Abnormal circulating albumin concentration	57107	PDSS2	ORPHA:255249
HP:0012116	Abnormal circulating albumin concentration	57107	PDSS2	OMIM:614652
HP:0012116	Abnormal circulating albumin concentration	27235	COQ2	ORPHA:255249
HP:0012116	Abnormal circulating albumin concentration	79989	IFT56	OMIM:619534
HP:0012116	Abnormal circulating albumin concentration	11284	PNKP	OMIM:616267
HP:0012116	Abnormal circulating albumin concentration	9652	SKIC3	OMIM:222470
HP:0012116	Abnormal circulating albumin concentration	2193	FARSA	OMIM:619013
HP:0012116	Abnormal circulating albumin concentration	125988	MICOS13	OMIM:618329
HP:0012116	Abnormal circulating albumin concentration	50943	FOXP3	ORPHA:37042
HP:0012116	Abnormal circulating albumin concentration	29929	ALG6	ORPHA:79320
HP:0012116	Abnormal circulating albumin concentration	2072	ERCC4	OMIM:610965
HP:0012116	Abnormal circulating albumin concentration	147372	CCBE1	OMIM:235510
HP:0012116	Abnormal circulating albumin concentration	79087	ALG12	ORPHA:79324
HP:0012116	Abnormal circulating albumin concentration	9451	EIF2AK3	ORPHA:1667
HP:0012116	Abnormal circulating albumin concentration	6850	SYK	OMIM:619381
HP:0012116	Abnormal circulating albumin concentration	1604	CD55	OMIM:226300
HP:0012116	Abnormal circulating albumin concentration	8694	DGAT1	OMIM:615863
HP:0012116	Abnormal circulating albumin concentration	1828	DSG1	OMIM:615508
HP:0012116	Abnormal circulating albumin concentration	3852	KRT5	ORPHA:79396
HP:0012116	Abnormal circulating albumin concentration	3861	KRT14	ORPHA:79396
HP:0012118	Laryngeal carcinoma	4292	MLH1	OMIM:158320
HP:0012118	Laryngeal carcinoma	4292	MLH1	ORPHA:587
HP:0012118	Laryngeal carcinoma	4436	MSH2	OMIM:158320
HP:0012118	Laryngeal carcinoma	4436	MSH2	ORPHA:587
HP:0012118	Laryngeal carcinoma	2956	MSH6	ORPHA:587
HP:0012118	Laryngeal carcinoma	284654	RSPO1	OMIM:610644
HP:0012119	Methemoglobinemia	3039	HBA1	OMIM:617973
HP:0012119	Methemoglobinemia	1727	CYB5R3	OMIM:250800
HP:0012119	Methemoglobinemia	1727	CYB5R3	ORPHA:621
HP:0012119	Methemoglobinemia	3048	HBG2	OMIM:613977
HP:0012119	Methemoglobinemia	3043	HBB	OMIM:617971
HP:0012119	Methemoglobinemia	1528	CYB5A	ORPHA:621
HP:0012119	Methemoglobinemia	1528	CYB5A	OMIM:250790
HP:0006693	Myocardial steatosis	3949	LDLR	ORPHA:391665
HP:0006693	Myocardial steatosis	255738	PCSK9	ORPHA:391665
HP:0006693	Myocardial steatosis	26119	LDLRAP1	ORPHA:391665
HP:0006693	Myocardial steatosis	338	APOB	ORPHA:391665
HP:0006693	Myocardial steatosis	64240	ABCG5	ORPHA:391665
HP:0006693	Myocardial steatosis	64241	ABCG8	ORPHA:391665
HP:0006695	Atrioventricular canal defect	7547	ZIC3	OMIM:306955
HP:0006695	Atrioventricular canal defect	22827	PUF60	ORPHA:508488
HP:0006695	Atrioventricular canal defect	5781	PTPN11	OMIM:151100
HP:0006695	Atrioventricular canal defect	2623	GATA1	OMIM:190685
HP:0006695	Atrioventricular canal defect	8318	CDC45	OMIM:617063
HP:0006695	Atrioventricular canal defect	5566	PRKACA	OMIM:619142
HP:0006695	Atrioventricular canal defect	7204	TRIO	ORPHA:476126
HP:0006695	Atrioventricular canal defect	2657	GDF1	OMIM:208530
HP:0006695	Atrioventricular canal defect	2657	GDF1	OMIM:613854
HP:0006695	Atrioventricular canal defect	10265	IRX5	OMIM:611174
HP:0006695	Atrioventricular canal defect	93	ACVR2B	OMIM:613751
HP:0006695	Atrioventricular canal defect	27152	INTU	OMIM:617925
HP:0006695	Atrioventricular canal defect	100128908	CIROP	OMIM:619702
HP:0006695	Atrioventricular canal defect	137814	NKX2-6	OMIM:217095
HP:0006695	Atrioventricular canal defect	1482	NKX2-5	OMIM:217095
HP:0006695	Atrioventricular canal defect	6899	TBX1	OMIM:217095
HP:0006695	Atrioventricular canal defect	2627	GATA6	OMIM:217095
HP:0006695	Atrioventricular canal defect	51057	WDPCP	OMIM:217085
HP:0006695	Atrioventricular canal defect	219844	HYLS1	OMIM:236680
HP:0006695	Atrioventricular canal defect	2737	GLI3	ORPHA:672
HP:0006695	Atrioventricular canal defect	9361	LONP1	OMIM:600373
HP:0006695	Atrioventricular canal defect	2294	FOXF1	OMIM:265380
HP:0006695	Atrioventricular canal defect	2294	FOXF1	ORPHA:210122
HP:0006695	Atrioventricular canal defect	1770	DNAH9	OMIM:618300
HP:0006695	Atrioventricular canal defect	6910	TBX5	ORPHA:392
HP:0006695	Atrioventricular canal defect	4838	NODAL	OMIM:270100
HP:0006695	Atrioventricular canal defect	673	BRAF	ORPHA:500
HP:0006695	Atrioventricular canal defect	5894	RAF1	ORPHA:500
HP:0006695	Atrioventricular canal defect	11198	SUPT16H	OMIM:619480
HP:0006695	Atrioventricular canal defect	2187	FANCB	OMIM:314390
HP:0006695	Atrioventricular canal defect	90416	CCDC32	OMIM:619123
HP:0006695	Atrioventricular canal defect	1717	DHCR7	ORPHA:818
HP:0006695	Atrioventricular canal defect	55997	CFC1	OMIM:605376
HP:0006695	Atrioventricular canal defect	78987	CRELD1	OMIM:606217
HP:0006695	Atrioventricular canal defect	57020	VPS35L	OMIM:619135
HP:0006695	Atrioventricular canal defect	50619	DEF6	OMIM:619573
HP:0006695	Atrioventricular canal defect	7026	NR2F2	OMIM:615779
HP:0006695	Atrioventricular canal defect	118856	MMP21	OMIM:616749
HP:0006695	Atrioventricular canal defect	9939	RBM8A	OMIM:274000
HP:0006695	Atrioventricular canal defect	23522	KAT6B	ORPHA:3047
HP:0006695	Atrioventricular canal defect	4750	NEK1	ORPHA:2751
HP:0006695	Atrioventricular canal defect	1000	CDH2	OMIM:618929
HP:0006695	Atrioventricular canal defect	9897	WASHC5	ORPHA:7
HP:0006695	Atrioventricular canal defect	28952	CCDC22	ORPHA:7
HP:0006695	Atrioventricular canal defect	5567	PRKACB	ORPHA:289
HP:0006695	Atrioventricular canal defect	5567	PRKACB	OMIM:619143
HP:0006695	Atrioventricular canal defect	2735	GLI1	ORPHA:289
HP:0006695	Atrioventricular canal defect	2121	EVC	ORPHA:289
HP:0006695	Atrioventricular canal defect	51626	DYNC2LI1	ORPHA:289
HP:0006695	Atrioventricular canal defect	51626	DYNC2LI1	OMIM:617088
HP:0006695	Atrioventricular canal defect	132884	EVC2	ORPHA:289
HP:0006695	Atrioventricular canal defect	7403	KDM6A	OMIM:300867
HP:0006695	Atrioventricular canal defect	5587	PRKD1	OMIM:617364
HP:0006695	Atrioventricular canal defect	8216	LZTR1	OMIM:605275
HP:0006695	Atrioventricular canal defect	25790	CFAP45	OMIM:619608
HP:0006695	Atrioventricular canal defect	2072	ERCC4	OMIM:615272
HP:0006695	Atrioventricular canal defect	79989	IFT56	OMIM:619534
HP:0006695	Atrioventricular canal defect	2626	GATA4	OMIM:614430
HP:0006695	Atrioventricular canal defect	83475	DOHH	OMIM:620066
HP:0006695	Atrioventricular canal defect	168507	PKD1L1	OMIM:617205
HP:0006695	Atrioventricular canal defect	220136	CFAP53	OMIM:614779
HP:0006695	Atrioventricular canal defect	4087	SMAD2	OMIM:619657
HP:0006696	Polymorphic and polytopic ventricular extrasystoles	6262	RYR2	OMIM:115000
HP:0006696	Polymorphic and polytopic ventricular extrasystoles	3762	KCNJ5	ORPHA:37553
HP:0006696	Polymorphic and polytopic ventricular extrasystoles	3759	KCNJ2	ORPHA:37553
HP:0001674	Complete atrioventricular canal defect	7547	ZIC3	OMIM:306955
HP:0001674	Complete atrioventricular canal defect	22827	PUF60	ORPHA:508488
HP:0001674	Complete atrioventricular canal defect	5781	PTPN11	OMIM:151100
HP:0001674	Complete atrioventricular canal defect	2623	GATA1	OMIM:190685
HP:0001674	Complete atrioventricular canal defect	8318	CDC45	OMIM:617063
HP:0001674	Complete atrioventricular canal defect	5566	PRKACA	OMIM:619142
HP:0001674	Complete atrioventricular canal defect	7204	TRIO	ORPHA:476126
HP:0001674	Complete atrioventricular canal defect	2657	GDF1	OMIM:208530
HP:0001674	Complete atrioventricular canal defect	2657	GDF1	OMIM:613854
HP:0001674	Complete atrioventricular canal defect	10265	IRX5	OMIM:611174
HP:0001674	Complete atrioventricular canal defect	93	ACVR2B	OMIM:613751
HP:0001674	Complete atrioventricular canal defect	27152	INTU	OMIM:617925
HP:0001674	Complete atrioventricular canal defect	100128908	CIROP	OMIM:619702
HP:0001674	Complete atrioventricular canal defect	137814	NKX2-6	OMIM:217095
HP:0001674	Complete atrioventricular canal defect	1482	NKX2-5	OMIM:217095
HP:0001674	Complete atrioventricular canal defect	6899	TBX1	OMIM:217095
HP:0001674	Complete atrioventricular canal defect	2627	GATA6	OMIM:217095
HP:0001674	Complete atrioventricular canal defect	51057	WDPCP	OMIM:217085
HP:0001674	Complete atrioventricular canal defect	219844	HYLS1	OMIM:236680
HP:0006698	Dilatation of the ventricular cavity	5318	PKP2	OMIM:609040
HP:0006698	Dilatation of the ventricular cavity	2006	ELN	ORPHA:90348
HP:0006698	Dilatation of the ventricular cavity	10516	FBLN5	ORPHA:90348
HP:0006698	Dilatation of the ventricular cavity	10516	FBLN5	ORPHA:90349
HP:0006698	Dilatation of the ventricular cavity	5832	ALDH18A1	ORPHA:90348
HP:0006698	Dilatation of the ventricular cavity	4052	LTBP1	ORPHA:90349
HP:0006698	Dilatation of the ventricular cavity	30008	EFEMP2	ORPHA:90349
HP:0006698	Dilatation of the ventricular cavity	54820	NDE1	ORPHA:2177
HP:0006698	Dilatation of the ventricular cavity	4878	NPPA	OMIM:615745
HP:0006698	Dilatation of the ventricular cavity	29925	GMPPB	ORPHA:363623
HP:0006698	Dilatation of the ventricular cavity	6134	RPL10	ORPHA:459070
HP:0006698	Dilatation of the ventricular cavity	54914	FOCAD	OMIM:619991
HP:0006699	Premature atrial contractions	6331	SCN5A	OMIM:601154
HP:0006699	Premature atrial contractions	2702	GJA5	OMIM:108770
HP:0006699	Premature atrial contractions	7273	TTN	OMIM:604145
HP:0006699	Premature atrial contractions	10370	CITED2	ORPHA:99105
HP:0006699	Premature atrial contractions	9992	KCNE2	OMIM:611493
HP:0006699	Premature atrial contractions	8260	NAA10	OMIM:300855
HP:0006699	Premature atrial contractions	3741	KCNA5	OMIM:612240
HP:0032550	Howell-Jolly bodies	8772	FADD	OMIM:613759
HP:0032550	Howell-Jolly bodies	3921	RPSA	OMIM:271400
HP:0032550	Howell-Jolly bodies	6786	STIM1	OMIM:185070
HP:0032552	Abnormal pulse	64131	XYLT1	OMIM:264800
HP:0032552	Abnormal pulse	64132	XYLT2	OMIM:264800
HP:0032552	Abnormal pulse	368	ABCC6	OMIM:264800
HP:0032552	Abnormal pulse	368	ABCC6	ORPHA:51608
HP:0032552	Abnormal pulse	5167	ENPP1	ORPHA:51608
HP:0032552	Abnormal pulse	5921	RASA1	ORPHA:90307
HP:0032553	Weak pulse	64131	XYLT1	OMIM:264800
HP:0032553	Weak pulse	64132	XYLT2	OMIM:264800
HP:0032553	Weak pulse	368	ABCC6	OMIM:264800
HP:0032553	Weak pulse	368	ABCC6	ORPHA:51608
HP:0032553	Weak pulse	5167	ENPP1	ORPHA:51608
HP:0032555	Bounding pulse	5921	RASA1	ORPHA:90307
HP:0032556	Circumoral cyanosis	3785	KCNQ2	ORPHA:1949
HP:0032556	Circumoral cyanosis	3786	KCNQ3	ORPHA:1949
HP:0032558	Absent sperm flagella	146754	DNAH2	OMIM:619094
HP:0032558	Absent sperm flagella	91057	CCDC34	OMIM:620084
HP:0032558	Absent sperm flagella	1769	DNAH8	OMIM:619095
HP:0032558	Absent sperm flagella	286464	CFAP47	OMIM:301059
HP:0032558	Absent sperm flagella	22873	DZIP1	OMIM:619102
HP:0032558	Absent sperm flagella	55779	CFAP44	OMIM:617593
HP:0032558	Absent sperm flagella	79925	SPEF2	OMIM:618751
HP:0032558	Absent sperm flagella	80217	CFAP43	OMIM:617592
HP:0032558	Absent sperm flagella	255101	CFAP65	OMIM:618664
HP:0032558	Absent sperm flagella	84071	ARMC2	OMIM:618433
HP:0032558	Absent sperm flagella	8632	DNAH17	OMIM:618643
HP:0032558	Absent sperm flagella	25981	DNAH1	OMIM:617576
HP:0032558	Absent sperm flagella	144406	CFAP251	OMIM:618152
HP:0032558	Absent sperm flagella	401024	FSIP2	OMIM:618153
HP:0032558	Absent sperm flagella	89876	CFAP91	OMIM:619177
HP:0032558	Absent sperm flagella	159686	CFAP58	OMIM:619144
HP:0032558	Absent sperm flagella	84074	QRICH2	OMIM:618341
HP:0032558	Absent sperm flagella	122481	AK7	OMIM:617965
HP:0032558	Absent sperm flagella	199223	TTC21A	OMIM:618429
HP:0032558	Absent sperm flagella	144132	DNHD1	OMIM:619712
HP:0032558	Absent sperm flagella	196385	DNAH10	OMIM:619515
HP:0032558	Absent sperm flagella	83894	TTC29	OMIM:618745
HP:0032558	Absent sperm flagella	57728	WDR19	OMIM:619867
HP:0032558	Absent sperm flagella	92749	DRC1	OMIM:620222
HP:0032559	Short sperm flagella	146754	DNAH2	OMIM:619094
HP:0032559	Short sperm flagella	91057	CCDC34	OMIM:620084
HP:0032559	Short sperm flagella	1769	DNAH8	OMIM:619095
HP:0032559	Short sperm flagella	55779	CFAP44	OMIM:617593
HP:0032559	Short sperm flagella	80217	CFAP43	OMIM:617592
HP:0032559	Short sperm flagella	375307	CATIP	OMIM:619379
HP:0032559	Short sperm flagella	255101	CFAP65	OMIM:618664
HP:0032559	Short sperm flagella	8632	DNAH17	OMIM:618643
HP:0032559	Short sperm flagella	25981	DNAH1	OMIM:617576
HP:0032559	Short sperm flagella	89876	CFAP91	OMIM:619177
HP:0032559	Short sperm flagella	84074	QRICH2	OMIM:618341
HP:0032559	Short sperm flagella	199223	TTC21A	OMIM:618429
HP:0032559	Short sperm flagella	144132	DNHD1	OMIM:619712
HP:0032559	Short sperm flagella	196385	DNAH10	OMIM:619515
HP:0032559	Short sperm flagella	83894	TTC29	OMIM:618745
HP:0032559	Short sperm flagella	79846	CFAP69	OMIM:617959
HP:0032559	Short sperm flagella	92749	DRC1	OMIM:620222
HP:0032559	Short sperm flagella	286464	CFAP47	OMIM:301059
HP:0032559	Short sperm flagella	22873	DZIP1	OMIM:619102
HP:0032559	Short sperm flagella	144406	CFAP251	OMIM:618152
HP:0032559	Short sperm flagella	401024	FSIP2	OMIM:618153
HP:0032559	Short sperm flagella	118491	CFAP70	OMIM:618670
HP:0032559	Short sperm flagella	159686	CFAP58	OMIM:619144
HP:0032559	Short sperm flagella	80173	IFT74	OMIM:619585
HP:0032559	Short sperm flagella	122481	AK7	OMIM:617965
HP:0032559	Short sperm flagella	57728	WDR19	OMIM:619867
HP:0032559	Short sperm flagella	85452	CFAP74	OMIM:620197
HP:0012120	Methylmalonic aciduria	197322	ACSF3	OMIM:614265
HP:0012120	Methylmalonic aciduria	197322	ACSF3	ORPHA:289504
HP:0012120	Methylmalonic aciduria	119559	SFXN4	OMIM:615578
HP:0012120	Methylmalonic aciduria	25974	MMACHC	ORPHA:79282
HP:0012120	Methylmalonic aciduria	25974	MMACHC	OMIM:277400
HP:0012120	Methylmalonic aciduria	3054	HCFC1	OMIM:309541
HP:0012120	Methylmalonic aciduria	23417	MLYCD	OMIM:248360
HP:0012120	Methylmalonic aciduria	4329	ALDH6A1	OMIM:614105
HP:0012120	Methylmalonic aciduria	6948	TCN2	OMIM:275350
HP:0012120	Methylmalonic aciduria	6948	TCN2	ORPHA:859
HP:0012120	Methylmalonic aciduria	55788	LMBRD1	ORPHA:79284
HP:0012120	Methylmalonic aciduria	55788	LMBRD1	OMIM:277380
HP:0012120	Methylmalonic aciduria	27249	MMADHC	OMIM:277410
HP:0012120	Methylmalonic aciduria	4594	MMUT	OMIM:251000
HP:0012120	Methylmalonic aciduria	84693	MCEE	OMIM:251120
HP:0012120	Methylmalonic aciduria	166785	MMAA	OMIM:251100
HP:0012120	Methylmalonic aciduria	4552	MTRR	OMIM:236270
HP:0012120	Methylmalonic aciduria	8802	SUCLG1	OMIM:245400
HP:0012120	Methylmalonic aciduria	8802	SUCLG1	ORPHA:17
HP:0012120	Methylmalonic aciduria	8803	SUCLA2	OMIM:612073
HP:0012120	Methylmalonic aciduria	8803	SUCLA2	ORPHA:1933
HP:0012120	Methylmalonic aciduria	51293	CD320	OMIM:613646
HP:0012120	Methylmalonic aciduria	5826	ABCD4	OMIM:614857
HP:0012120	Methylmalonic aciduria	4548	MTR	OMIM:250940
HP:0012120	Methylmalonic aciduria	326625	MMAB	OMIM:251110
HP:0012120	Methylmalonic aciduria	5052	PRDX1	OMIM:277400
HP:0012121	Panuveitis	8517	IKBKG	OMIM:301081
HP:0012122	Anterior uveitis	10273	STUB1	ORPHA:412057
HP:0012122	Anterior uveitis	6775	STAT4	ORPHA:85408
HP:0012122	Anterior uveitis	3560	IL2RB	ORPHA:85408
HP:0012122	Anterior uveitis	79722	ANKRD55	ORPHA:85408
HP:0012122	Anterior uveitis	26191	PTPN22	ORPHA:85408
HP:0012122	Anterior uveitis	919	CD247	ORPHA:85408
HP:0012122	Anterior uveitis	3559	IL2RA	ORPHA:85408
HP:0012122	Anterior uveitis	5771	PTPN2	ORPHA:85408
HP:0012122	Anterior uveitis	326	AIRE	OMIM:240300
HP:0012122	Anterior uveitis	64127	NOD2	ORPHA:90340
HP:0012122	Anterior uveitis	144811	LACC1	ORPHA:85414
HP:0012122	Anterior uveitis	4282	MIF	ORPHA:85414
HP:0012122	Anterior uveitis	3123	HLA-DRB1	ORPHA:85414
HP:0012122	Anterior uveitis	3569	IL6	ORPHA:85414
HP:0012122	Anterior uveitis	7128	TNFAIP3	OMIM:616744
HP:0012122	Anterior uveitis	8517	IKBKG	OMIM:301081
HP:0012122	Anterior uveitis	3106	HLA-B	OMIM:106300
HP:0012123	Posterior uveitis	330	BIRC3	ORPHA:52417
HP:0012123	Posterior uveitis	10892	MALT1	ORPHA:52417
HP:0012123	Posterior uveitis	27086	FOXP1	ORPHA:52417
HP:0012123	Posterior uveitis	3492	IGH	ORPHA:52417
HP:0012123	Posterior uveitis	8915	BCL10	ORPHA:52417
HP:0012123	Posterior uveitis	64127	NOD2	ORPHA:90340
HP:0012125	Prostate cancer	672	BRCA1	ORPHA:145
HP:0012125	Prostate cancer	7157	TP53	ORPHA:145
HP:0012125	Prostate cancer	7157	TP53	OMIM:151623
HP:0012125	Prostate cancer	7157	TP53	ORPHA:524
HP:0012125	Prostate cancer	5892	RAD51D	ORPHA:145
HP:0012125	Prostate cancer	675	BRCA2	ORPHA:145
HP:0012125	Prostate cancer	675	BRCA2	OMIM:176807
HP:0012125	Prostate cancer	5728	PTEN	ORPHA:145
HP:0012125	Prostate cancer	5728	PTEN	OMIM:176807
HP:0012125	Prostate cancer	10111	RAD50	ORPHA:145
HP:0012125	Prostate cancer	580	BARD1	ORPHA:145
HP:0012125	Prostate cancer	5888	RAD51	ORPHA:145
HP:0012125	Prostate cancer	4683	NBN	ORPHA:145
HP:0012125	Prostate cancer	5889	RAD51C	ORPHA:145
HP:0012125	Prostate cancer	83990	BRIP1	ORPHA:145
HP:0012125	Prostate cancer	4361	MRE11	ORPHA:145
HP:0012125	Prostate cancer	79728	PALB2	ORPHA:145
HP:0012125	Prostate cancer	11200	CHEK2	ORPHA:145
HP:0012125	Prostate cancer	11200	CHEK2	OMIM:176807
HP:0012125	Prostate cancer	11200	CHEK2	ORPHA:524
HP:0012125	Prostate cancer	2048	EPHB2	OMIM:603688
HP:0012125	Prostate cancer	463	ZFHX3	OMIM:176807
HP:0012125	Prostate cancer	1316	KLF6	OMIM:176807
HP:0012125	Prostate cancer	999	CDH1	OMIM:176807
HP:0012125	Prostate cancer	367	AR	OMIM:176807
HP:0012125	Prostate cancer	4601	MXI1	OMIM:176807
HP:0012125	Prostate cancer	8379	MAD1L1	OMIM:176807
HP:0012125	Prostate cancer	54894	RNF43	ORPHA:157798
HP:0012125	Prostate cancer	6041	RNASEL	OMIM:601518
HP:0012125	Prostate cancer	26585	GREM1	ORPHA:157794
HP:0012125	Prostate cancer	657	BMPR1A	ORPHA:157794
HP:0012125	Prostate cancer	2304	FOXE1	OMIM:616534
HP:0012125	Prostate cancer	4665	NAB2	ORPHA:2126
HP:0012125	Prostate cancer	6778	STAT6	ORPHA:2126
HP:0012125	Prostate cancer	4913	NTHL1	OMIM:616415
HP:0012125	Prostate cancer	324	APC	ORPHA:79665
HP:0012125	Prostate cancer	7373	COL14A1	ORPHA:79501
HP:0012125	Prostate cancer	79719	AAGAB	ORPHA:79501
HP:0012125	Prostate cancer	1029	CDKN2A	ORPHA:524
HP:0012125	Prostate cancer	4193	MDM2	ORPHA:524
HP:0012126	Stomach cancer	641	BLM	ORPHA:125
HP:0012126	Stomach cancer	9184	BUB3	ORPHA:1052
HP:0012126	Stomach cancer	699	BUB1	ORPHA:1052
HP:0012126	Stomach cancer	9702	CEP57	ORPHA:1052
HP:0012126	Stomach cancer	9319	TRIP13	ORPHA:1052
HP:0012126	Stomach cancer	701	BUB1B	ORPHA:1052
HP:0012126	Stomach cancer	999	CDH1	OMIM:137215
HP:0012126	Stomach cancer	64218	SEMA4A	ORPHA:440437
HP:0012126	Stomach cancer	657	BMPR1A	ORPHA:440437
HP:0012126	Stomach cancer	6224	RPS20	ORPHA:440437
HP:0012126	Stomach cancer	6794	STK11	ORPHA:2869
HP:0012126	Stomach cancer	3553	IL1B	OMIM:613659
HP:0012126	Stomach cancer	4595	MUTYH	OMIM:613659
HP:0012126	Stomach cancer	3557	IL1RN	OMIM:613659
HP:0012126	Stomach cancer	3845	KRAS	OMIM:613659
HP:0012126	Stomach cancer	843	CASP10	OMIM:613659
HP:0012126	Stomach cancer	3659	IRF1	OMIM:613659
HP:0012126	Stomach cancer	2064	ERBB2	OMIM:613659
HP:0012126	Stomach cancer	5290	PIK3CA	OMIM:613659
HP:0012126	Stomach cancer	1316	KLF6	OMIM:613659
HP:0012126	Stomach cancer	324	APC	OMIM:613659
HP:0012126	Stomach cancer	2263	FGFR2	OMIM:613659
HP:0012126	Stomach cancer	4437	MSH3	ORPHA:480536
HP:0012126	Stomach cancer	7373	COL14A1	ORPHA:79501
HP:0012126	Stomach cancer	79719	AAGAB	ORPHA:79501
HP:0012126	Stomach cancer	7157	TP53	ORPHA:524
HP:0012126	Stomach cancer	1029	CDKN2A	ORPHA:524
HP:0012126	Stomach cancer	4193	MDM2	ORPHA:524
HP:0012126	Stomach cancer	11200	CHEK2	ORPHA:524
HP:0012126	Stomach cancer	11200	CHEK2	OMIM:609265
HP:0012127	Uraciluria	1806	DPYD	OMIM:274270
HP:0012127	Uraciluria	1806	DPYD	ORPHA:1675
HP:0012127	Uraciluria	1807	DPYS	OMIM:222748
HP:0012128	Basal ganglia necrosis	137682	NDUFAF6	OMIM:618239
HP:0012128	Basal ganglia necrosis	9361	LONP1	ORPHA:79243
HP:0012128	Basal ganglia necrosis	5160	PDHA1	ORPHA:79243
HP:0012129	Abnormality of bone marrow stromal cells	6208	RPS14	ORPHA:86841
HP:0032560	Coiled sperm flagella	146754	DNAH2	OMIM:619094
HP:0032560	Coiled sperm flagella	1769	DNAH8	OMIM:619095
HP:0032560	Coiled sperm flagella	55779	CFAP44	OMIM:617593
HP:0032560	Coiled sperm flagella	80217	CFAP43	OMIM:617592
HP:0032560	Coiled sperm flagella	375307	CATIP	OMIM:619379
HP:0032560	Coiled sperm flagella	255101	CFAP65	OMIM:618664
HP:0032560	Coiled sperm flagella	8632	DNAH17	OMIM:618643
HP:0032560	Coiled sperm flagella	25981	DNAH1	OMIM:617576
HP:0032560	Coiled sperm flagella	89876	CFAP91	OMIM:619177
HP:0032560	Coiled sperm flagella	84074	QRICH2	OMIM:618341
HP:0032560	Coiled sperm flagella	199223	TTC21A	OMIM:618429
HP:0032560	Coiled sperm flagella	144132	DNHD1	OMIM:619712
HP:0032560	Coiled sperm flagella	196385	DNAH10	OMIM:619515
HP:0032560	Coiled sperm flagella	83894	TTC29	OMIM:618745
HP:0032560	Coiled sperm flagella	79846	CFAP69	OMIM:617959
HP:0032560	Coiled sperm flagella	92749	DRC1	OMIM:620222
HP:0032560	Coiled sperm flagella	286464	CFAP47	OMIM:301059
HP:0032560	Coiled sperm flagella	79925	SPEF2	OMIM:618751
HP:0032560	Coiled sperm flagella	84071	ARMC2	OMIM:618433
HP:0032560	Coiled sperm flagella	144406	CFAP251	OMIM:618152
HP:0032560	Coiled sperm flagella	401024	FSIP2	OMIM:618153
HP:0032560	Coiled sperm flagella	159686	CFAP58	OMIM:619144
HP:0032560	Coiled sperm flagella	122481	AK7	OMIM:617965
HP:0032560	Coiled sperm flagella	57728	WDR19	OMIM:619867
HP:0032560	Coiled sperm flagella	85452	CFAP74	OMIM:620197
HP:0032560	Coiled sperm flagella	157855	KCNU1	OMIM:620196
HP:0032561	Microcephalic sperm head	80726	IQCN	OMIM:620170
HP:0032561	Microcephalic sperm head	83894	TTC29	OMIM:618745
HP:0032561	Microcephalic sperm head	79846	CFAP69	OMIM:617959
HP:0032561	Microcephalic sperm head	89876	CFAP91	OMIM:619177
HP:0032562	Tapered sperm head	80726	IQCN	OMIM:620170
HP:0032562	Tapered sperm head	83894	TTC29	OMIM:618745
HP:0032562	Tapered sperm head	284382	ACTL9	OMIM:619258
HP:0032562	Tapered sperm head	375307	CATIP	OMIM:619379
HP:0032562	Tapered sperm head	84071	ARMC2	OMIM:618433
HP:0032562	Tapered sperm head	79846	CFAP69	OMIM:617959
HP:0032562	Tapered sperm head	8632	DNAH17	OMIM:618643
HP:0032562	Tapered sperm head	118491	CFAP70	OMIM:618670
HP:0032564	Ileitis	22900	CARD8	OMIM:619079
HP:0032564	Ileitis	5970	RELA	OMIM:618287
HP:0032565	Vaginal mucosal ulceration	5970	RELA	OMIM:618287
HP:0032566	Oval macrocytosis	8029	CUBN	ORPHA:35858
HP:0032566	Oval macrocytosis	81693	AMN	ORPHA:35858
HP:0032567	Lipiduria	2717	GLA	OMIM:301500
HP:0032568	Urinary mulberry cells	2717	GLA	OMIM:301500
HP:0032569	Temporal bossing	9702	CEP57	OMIM:614114
HP:0032569	Temporal bossing	5447	POR	OMIM:201750
HP:0032569	Temporal bossing	2261	FGFR3	OMIM:602849
HP:0012130	Abnormal erythroid lineage cell morphology	9493	KIF23	ORPHA:98870
HP:0012130	Abnormal erythroid lineage cell morphology	29127	RACGAP1	ORPHA:98870
HP:0012130	Abnormal erythroid lineage cell morphology	114803	MYSM1	ORPHA:508542
HP:0012130	Abnormal erythroid lineage cell morphology	7317	UBA1	OMIM:301054
HP:0012130	Abnormal erythroid lineage cell morphology	6573	SLC19A1	OMIM:601775
HP:0012130	Abnormal erythroid lineage cell morphology	51428	DDX41	OMIM:616871
HP:0012130	Abnormal erythroid lineage cell morphology	84529	CDIN1	OMIM:615631
HP:0012131	Abnormal number of erythroid precursors	5313	PKLR	OMIM:266200
HP:0012131	Abnormal number of erythroid precursors	9663	LPIN2	OMIM:609628
HP:0012131	Abnormal number of erythroid precursors	80324	PUS1	OMIM:600462
HP:0012131	Abnormal number of erythroid precursors	3043	HBB	ORPHA:231222
HP:0012131	Abnormal number of erythroid precursors	23395	LARS2	OMIM:617021
HP:0012131	Abnormal number of erythroid precursors	5230	PGK1	OMIM:300653
HP:0012131	Abnormal number of erythroid precursors	51218	GLRX5	OMIM:616860
HP:0012131	Abnormal number of erythroid precursors	146059	CDAN1	OMIM:224120
HP:0012131	Abnormal number of erythroid precursors	10661	KLF1	OMIM:613673
HP:0012131	Abnormal number of erythroid precursors	4891	SLC11A2	OMIM:206100
HP:0012131	Abnormal number of erythroid precursors	84529	CDIN1	OMIM:615631
HP:0012131	Abnormal number of erythroid precursors	2065	ERBB3	OMIM:133180
HP:0012131	Abnormal number of erythroid precursors	2623	GATA1	OMIM:301083
HP:0012131	Abnormal number of erythroid precursors	2623	GATA1	ORPHA:79277
HP:0012131	Abnormal number of erythroid precursors	7390	UROS	ORPHA:79277
HP:0012131	Abnormal number of erythroid precursors	54790	TET2	ORPHA:75564
HP:0012131	Abnormal number of erythroid precursors	23451	SF3B1	ORPHA:75564
HP:0012131	Abnormal number of erythroid precursors	7389	UROD	ORPHA:95159
HP:0012131	Abnormal number of erythroid precursors	5277	PIGA	ORPHA:447
HP:0012131	Abnormal number of erythroid precursors	55027	HEATR3	OMIM:620072
HP:0012131	Abnormal number of erythroid precursors	6135	RPL11	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6138	RPL15	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6229	RPS24	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6125	RPL5	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6204	RPS10	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6224	RPS20	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6165	RPL35A	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6165	RPL35A	OMIM:612528
HP:0012131	Abnormal number of erythroid precursors	6223	RPS19	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6232	RPS27	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6231	RPS26	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	11224	RPL35	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	11224	RPL35	OMIM:618312
HP:0012131	Abnormal number of erythroid precursors	6160	RPL31	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6218	RPS17	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6218	RPS17	OMIM:612527
HP:0012131	Abnormal number of erythroid precursors	6201	RPS7	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6155	RPL27	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6154	RPL26	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6210	RPS15A	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6210	RPS15A	OMIM:618313
HP:0012131	Abnormal number of erythroid precursors	90121	TSR2	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6141	RPL18	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6141	RPL18	OMIM:618310
HP:0012131	Abnormal number of erythroid precursors	6235	RPS29	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6234	RPS28	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	51816	ADA2	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6208	RPS14	OMIM:153550
HP:0012131	Abnormal number of erythroid precursors	6208	RPS14	ORPHA:86841
HP:0012131	Abnormal number of erythroid precursors	7157	TP53	OMIM:618165
HP:0012131	Abnormal number of erythroid precursors	92579	G6PC3	OMIM:612541
HP:0012131	Abnormal number of erythroid precursors	6948	TCN2	OMIM:275350
HP:0012131	Abnormal number of erythroid precursors	4860	PNP	OMIM:613179
HP:0012131	Abnormal number of erythroid precursors	2056	EPO	OMIM:617911
HP:0012131	Abnormal number of erythroid precursors	2694	CBLIF	OMIM:261000
HP:0012132	Erythroid hyperplasia	5313	PKLR	OMIM:266200
HP:0012132	Erythroid hyperplasia	9663	LPIN2	OMIM:609628
HP:0012132	Erythroid hyperplasia	80324	PUS1	OMIM:600462
HP:0012132	Erythroid hyperplasia	3043	HBB	ORPHA:231222
HP:0012132	Erythroid hyperplasia	23395	LARS2	OMIM:617021
HP:0012132	Erythroid hyperplasia	5230	PGK1	OMIM:300653
HP:0012132	Erythroid hyperplasia	51218	GLRX5	OMIM:616860
HP:0012132	Erythroid hyperplasia	146059	CDAN1	OMIM:224120
HP:0012132	Erythroid hyperplasia	10661	KLF1	OMIM:613673
HP:0012132	Erythroid hyperplasia	4891	SLC11A2	OMIM:206100
HP:0012132	Erythroid hyperplasia	84529	CDIN1	OMIM:615631
HP:0012132	Erythroid hyperplasia	2065	ERBB3	OMIM:133180
HP:0012132	Erythroid hyperplasia	2623	GATA1	OMIM:301083
HP:0012132	Erythroid hyperplasia	2623	GATA1	ORPHA:79277
HP:0012132	Erythroid hyperplasia	7390	UROS	ORPHA:79277
HP:0012132	Erythroid hyperplasia	54790	TET2	ORPHA:75564
HP:0012132	Erythroid hyperplasia	23451	SF3B1	ORPHA:75564
HP:0012132	Erythroid hyperplasia	7389	UROD	ORPHA:95159
HP:0012132	Erythroid hyperplasia	5277	PIGA	ORPHA:447
HP:0012132	Erythroid hyperplasia	2694	CBLIF	OMIM:261000
HP:0012133	Erythroid hypoplasia	55027	HEATR3	OMIM:620072
HP:0012133	Erythroid hypoplasia	6135	RPL11	ORPHA:124
HP:0012133	Erythroid hypoplasia	6138	RPL15	ORPHA:124
HP:0012133	Erythroid hypoplasia	6229	RPS24	ORPHA:124
HP:0012133	Erythroid hypoplasia	6125	RPL5	ORPHA:124
HP:0012133	Erythroid hypoplasia	6204	RPS10	ORPHA:124
HP:0012133	Erythroid hypoplasia	6224	RPS20	ORPHA:124
HP:0012133	Erythroid hypoplasia	6165	RPL35A	ORPHA:124
HP:0012133	Erythroid hypoplasia	6165	RPL35A	OMIM:612528
HP:0012133	Erythroid hypoplasia	2623	GATA1	ORPHA:124
HP:0012133	Erythroid hypoplasia	6223	RPS19	ORPHA:124
HP:0012133	Erythroid hypoplasia	6232	RPS27	ORPHA:124
HP:0012133	Erythroid hypoplasia	6231	RPS26	ORPHA:124
HP:0012133	Erythroid hypoplasia	11224	RPL35	ORPHA:124
HP:0012133	Erythroid hypoplasia	11224	RPL35	OMIM:618312
HP:0012133	Erythroid hypoplasia	6160	RPL31	ORPHA:124
HP:0012133	Erythroid hypoplasia	6218	RPS17	ORPHA:124
HP:0012133	Erythroid hypoplasia	6218	RPS17	OMIM:612527
HP:0012133	Erythroid hypoplasia	6201	RPS7	ORPHA:124
HP:0012133	Erythroid hypoplasia	6155	RPL27	ORPHA:124
HP:0012133	Erythroid hypoplasia	6154	RPL26	ORPHA:124
HP:0012133	Erythroid hypoplasia	6210	RPS15A	ORPHA:124
HP:0012133	Erythroid hypoplasia	6210	RPS15A	OMIM:618313
HP:0012133	Erythroid hypoplasia	90121	TSR2	ORPHA:124
HP:0012133	Erythroid hypoplasia	6141	RPL18	ORPHA:124
HP:0012133	Erythroid hypoplasia	6141	RPL18	OMIM:618310
HP:0012133	Erythroid hypoplasia	6235	RPS29	ORPHA:124
HP:0012133	Erythroid hypoplasia	6234	RPS28	ORPHA:124
HP:0012133	Erythroid hypoplasia	51816	ADA2	ORPHA:124
HP:0012133	Erythroid hypoplasia	6208	RPS14	OMIM:153550
HP:0012133	Erythroid hypoplasia	6208	RPS14	ORPHA:86841
HP:0012133	Erythroid hypoplasia	7157	TP53	OMIM:618165
HP:0012133	Erythroid hypoplasia	92579	G6PC3	OMIM:612541
HP:0012133	Erythroid hypoplasia	54790	TET2	ORPHA:98826
HP:0012133	Erythroid hypoplasia	6948	TCN2	OMIM:275350
HP:0012134	Dysplastic erythropoesis	55240	STEAP3	ORPHA:300298
HP:0012135	Abnormal granulocytopoietic cell morphology	4926	NUMA1	OMIM:612376
HP:0012135	Abnormal granulocytopoietic cell morphology	5914	RARA	OMIM:612376
HP:0012135	Abnormal granulocytopoietic cell morphology	2623	GATA1	OMIM:300835
HP:0012135	Abnormal granulocytopoietic cell morphology	54790	TET2	ORPHA:75564
HP:0012135	Abnormal granulocytopoietic cell morphology	23451	SF3B1	ORPHA:75564
HP:0012135	Abnormal granulocytopoietic cell morphology	1441	CSF3R	OMIM:162830
HP:0012135	Abnormal granulocytopoietic cell morphology	171023	ASXL1	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	3815	KIT	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	6427	SRSF2	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	3394	IRF8	OMIM:226990
HP:0012135	Abnormal granulocytopoietic cell morphology	6154	RPL26	OMIM:614900
HP:0012135	Abnormal granulocytopoietic cell morphology	6141	RPL18	OMIM:618310
HP:0012135	Abnormal granulocytopoietic cell morphology	3579	CXCR2	OMIM:619407
HP:0012135	Abnormal granulocytopoietic cell morphology	7852	CXCR4	OMIM:193670
HP:0012135	Abnormal granulocytopoietic cell morphology	7852	CXCR4	ORPHA:51636
HP:0012136	Dysplastic granulopoesis	54790	TET2	ORPHA:75564
HP:0012136	Dysplastic granulopoesis	23451	SF3B1	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	54790	TET2	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	23451	SF3B1	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	1441	CSF3R	OMIM:162830
HP:0012137	Abnormal number of granulocyte precursors	171023	ASXL1	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	3815	KIT	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	6427	SRSF2	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	3394	IRF8	OMIM:226990
HP:0012137	Abnormal number of granulocyte precursors	6154	RPL26	OMIM:614900
HP:0012137	Abnormal number of granulocyte precursors	6141	RPL18	OMIM:618310
HP:0012138	Granulocytic hyperplasia	1441	CSF3R	OMIM:162830
HP:0012138	Granulocytic hyperplasia	171023	ASXL1	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	54790	TET2	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	3815	KIT	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	6427	SRSF2	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	3394	IRF8	OMIM:226990
HP:0012139	Granulocytic hypoplasia	6154	RPL26	OMIM:614900
HP:0012139	Granulocytic hypoplasia	6141	RPL18	OMIM:618310
HP:0032571	Increased oocyte death	24145	PANX1	OMIM:618550
HP:0032572	Abnormal urinary nucleobase concentration	1806	DPYD	OMIM:274270
HP:0032572	Abnormal urinary nucleobase concentration	1806	DPYD	ORPHA:1675
HP:0032572	Abnormal urinary nucleobase concentration	1807	DPYS	OMIM:222748
HP:0032572	Abnormal urinary nucleobase concentration	9154	SLC28A1	OMIM:618477
HP:0032572	Abnormal urinary nucleobase concentration	1147	CHUK	OMIM:613630
HP:0032572	Abnormal urinary nucleobase concentration	471	ATIC	OMIM:608688
HP:0032573	Elevated urinary cytidine	9154	SLC28A1	OMIM:618477
HP:0032574	Elevated urinary uridine level	9154	SLC28A1	OMIM:618477
HP:0032575	Decreased circulating 12-HETE	5321	PLA2G4A	OMIM:618372
HP:0004332	Abnormal lymphocyte morphology	5728	PTEN	OMIM:605309
HP:0004332	Abnormal lymphocyte morphology	5728	PTEN	OMIM:158350
HP:0004332	Abnormal lymphocyte morphology	54892	NCAPG2	OMIM:618460
HP:0004332	Abnormal lymphocyte morphology	4860	PNP	OMIM:613179
HP:0004332	Abnormal lymphocyte morphology	4860	PNP	ORPHA:760
HP:0004332	Abnormal lymphocyte morphology	22800	RRAS2	OMIM:618624
HP:0004332	Abnormal lymphocyte morphology	6775	STAT4	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	6696	SPP1	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	3654	IRAK1	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	7174	TPP2	ORPHA:444463
HP:0004332	Abnormal lymphocyte morphology	114803	MYSM1	ORPHA:508542
HP:0004332	Abnormal lymphocyte morphology	4522	MTHFD1	OMIM:617780
HP:0004332	Abnormal lymphocyte morphology	11151	CORO1A	OMIM:615401
HP:0004332	Abnormal lymphocyte morphology	26277	TINF2	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	7012	TERC	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	7015	TERT	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	9837	GINS1	OMIM:617827
HP:0004332	Abnormal lymphocyte morphology	1991	ELANE	ORPHA:2686
HP:0004332	Abnormal lymphocyte morphology	1991	ELANE	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	51816	ADA2	OMIM:182410
HP:0004332	Abnormal lymphocyte morphology	51816	ADA2	OMIM:615688
HP:0004332	Abnormal lymphocyte morphology	84196	USP48	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	7157	TP53	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	9101	USP8	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	64072	CDH23	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	2908	NR3C1	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	673	BRAF	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	546	ATRX	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	3930	LBR	OMIM:613471
HP:0004332	Abnormal lymphocyte morphology	7128	TNFAIP3	OMIM:616744
HP:0004332	Abnormal lymphocyte morphology	92579	G6PC3	OMIM:612541
HP:0004332	Abnormal lymphocyte morphology	340061	STING1	OMIM:615934
HP:0004332	Abnormal lymphocyte morphology	7852	CXCR4	ORPHA:51636
HP:0004332	Abnormal lymphocyte morphology	4478	MSN	OMIM:300988
HP:0004332	Abnormal lymphocyte morphology	79415	CYBC1	OMIM:618935
HP:0004332	Abnormal lymphocyte morphology	3070	HELLS	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	83879	CDCA7	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	4790	NFKB1	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	115650	TNFRSF13C	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	1380	CR2	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	8742	TNFSF12	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	930	CD19	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	29851	ICOS	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	931	MS4A1	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	975	CD81	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	359948	IRF2BP2	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	200734	SPRED2	OMIM:619745
HP:0004332	Abnormal lymphocyte morphology	6773	STAT2	OMIM:616636
HP:0004332	Abnormal lymphocyte morphology	8883	NAE1	OMIM:620210
HP:0004332	Abnormal lymphocyte morphology	80185	TTI2	ORPHA:391307
HP:0004332	Abnormal lymphocyte morphology	3572	IL6ST	OMIM:619752
HP:0004332	Abnormal lymphocyte morphology	54809	SAMD9	OMIM:617053
HP:0004332	Abnormal lymphocyte morphology	8879	SGPL1	OMIM:617575
HP:0004332	Abnormal lymphocyte morphology	9508	ADAMTS3	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	147372	CCBE1	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	79633	FAT4	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	6789	STK4	OMIM:614868
HP:0004332	Abnormal lymphocyte morphology	7036	TFR2	OMIM:604250
HP:0004332	Abnormal lymphocyte morphology	51284	TLR7	OMIM:301080
HP:0004332	Abnormal lymphocyte morphology	6948	TCN2	ORPHA:859
HP:0004332	Abnormal lymphocyte morphology	64135	IFIH1	OMIM:619773
HP:0004332	Abnormal lymphocyte morphology	5692	PSMB4	OMIM:617591
HP:0004332	Abnormal lymphocyte morphology	5698	PSMB9	OMIM:617591
HP:0004332	Abnormal lymphocyte morphology	7518	XRCC4	OMIM:616541
HP:0004332	Abnormal lymphocyte morphology	204	AK2	OMIM:267500
HP:0004332	Abnormal lymphocyte morphology	4194	MDM4	OMIM:618849
HP:0004332	Abnormal lymphocyte morphology	10312	TCIRG1	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	2672	GFI1	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	6729	SRP54	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	81570	CLPB	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	404672	GTF2H5	OMIM:616395
HP:0004332	Abnormal lymphocyte morphology	9652	SKIC3	ORPHA:84064
HP:0004332	Abnormal lymphocyte morphology	6499	SKIC2	ORPHA:84064
HP:0004332	Abnormal lymphocyte morphology	5297	PI4KA	OMIM:619708
HP:0004332	Abnormal lymphocyte morphology	26503	SLC17A5	OMIM:604369
HP:0004332	Abnormal lymphocyte morphology	26503	SLC17A5	OMIM:269920
HP:0004332	Abnormal lymphocyte morphology	57104	PNPLA2	ORPHA:565612
HP:0004332	Abnormal lymphocyte morphology	4125	MAN2B1	OMIM:248500
HP:0004332	Abnormal lymphocyte morphology	5538	PPT1	OMIM:256730
HP:0004332	Abnormal lymphocyte morphology	2517	FUCA1	OMIM:230000
HP:0004332	Abnormal lymphocyte morphology	1203	CLN5	OMIM:256731
HP:0004332	Abnormal lymphocyte morphology	1201	CLN3	OMIM:204200
HP:0004332	Abnormal lymphocyte morphology	1201	CLN3	ORPHA:228346
HP:0004332	Abnormal lymphocyte morphology	175	AGA	OMIM:208400
HP:0004332	Abnormal lymphocyte morphology	2720	GLB1	OMIM:230500
HP:0004332	Abnormal lymphocyte morphology	4758	NEU1	OMIM:256550
HP:0004332	Abnormal lymphocyte morphology	29760	BLNK	OMIM:613502
HP:0004332	Abnormal lymphocyte morphology	4247	MGAT2	ORPHA:79329
HP:0004332	Abnormal lymphocyte morphology	6772	STAT1	OMIM:614162
HP:0004332	Abnormal lymphocyte morphology	3718	JAK3	OMIM:600802
HP:0004332	Abnormal lymphocyte morphology	3718	JAK3	ORPHA:35078
HP:0004332	Abnormal lymphocyte morphology	57217	TTC7A	OMIM:243150
HP:0004332	Abnormal lymphocyte morphology	55388	MCM10	OMIM:619313
HP:0004332	Abnormal lymphocyte morphology	4615	MYD88	OMIM:153600
HP:0004332	Abnormal lymphocyte morphology	5971	RELB	OMIM:617585
HP:0004332	Abnormal lymphocyte morphology	5788	PTPRC	OMIM:619924
HP:0004332	Abnormal lymphocyte morphology	6023	RMRP	OMIM:250250
HP:0004332	Abnormal lymphocyte morphology	7535	ZAP70	OMIM:617006
HP:0004332	Abnormal lymphocyte morphology	200942	KLHDC8B	OMIM:236000
HP:0004332	Abnormal lymphocyte morphology	23495	TNFRSF13B	OMIM:609529
HP:0004332	Abnormal lymphocyte morphology	1493	CTLA4	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	1493	CTLA4	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	940	CD28	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	940	CD28	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	7133	TNFRSF1B	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	7133	TNFRSF1B	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	23765	IL17RA	OMIM:613953
HP:0004332	Abnormal lymphocyte morphology	4791	NFKB2	ORPHA:293978
HP:0004332	Abnormal lymphocyte morphology	55636	CHD7	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	3981	LIG4	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	5896	RAG1	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	5897	RAG2	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	100	ADA	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	5557	PRIM1	OMIM:620005
HP:0004332	Abnormal lymphocyte morphology	1789	DNMT3B	OMIM:242860
HP:0004332	Abnormal lymphocyte morphology	695	BTK	OMIM:300755
HP:0004332	Abnormal lymphocyte morphology	6909	TBX2	OMIM:618223
HP:0004332	Abnormal lymphocyte morphology	4683	NBN	OMIM:251260
HP:0004332	Abnormal lymphocyte morphology	3574	IL7	OMIM:618309
HP:0004332	Abnormal lymphocyte morphology	8737	RIPK1	OMIM:618108
HP:0004332	Abnormal lymphocyte morphology	23149	FCHO1	OMIM:619164
HP:0004332	Abnormal lymphocyte morphology	79840	NHEJ1	ORPHA:169079
HP:0004332	Abnormal lymphocyte morphology	54	ACP5	OMIM:607944
HP:0004332	Abnormal lymphocyte morphology	919	CD247	OMIM:610163
HP:0004332	Abnormal lymphocyte morphology	3431	SP110	ORPHA:79124
HP:0004332	Abnormal lymphocyte morphology	1794	DOCK2	OMIM:616433
HP:0004332	Abnormal lymphocyte morphology	3071	NCKAP1L	OMIM:618982
HP:0004332	Abnormal lymphocyte morphology	84433	CARD11	OMIM:616452
HP:0004332	Abnormal lymphocyte morphology	2137	EXTL3	ORPHA:508533
HP:0004332	Abnormal lymphocyte morphology	57724	EPG5	OMIM:242840
HP:0004332	Abnormal lymphocyte morphology	7454	WAS	OMIM:301000
HP:0004332	Abnormal lymphocyte morphology	84061	MAGT1	OMIM:300853
HP:0004332	Abnormal lymphocyte morphology	10043	TOM1	OMIM:619510
HP:0004332	Abnormal lymphocyte morphology	3702	ITK	OMIM:613011
HP:0004332	Abnormal lymphocyte morphology	10625	IVNS1ABP	OMIM:618969
HP:0004332	Abnormal lymphocyte morphology	3551	IKBKB	OMIM:618204
HP:0004332	Abnormal lymphocyte morphology	3932	LCK	OMIM:615758
HP:0004332	Abnormal lymphocyte morphology	54440	SASH3	OMIM:301082
HP:0004332	Abnormal lymphocyte morphology	9094	UNC119	OMIM:615518
HP:0004332	Abnormal lymphocyte morphology	4609	MYC	ORPHA:543
HP:0004332	Abnormal lymphocyte morphology	3575	IL7R	ORPHA:169154
HP:0004332	Abnormal lymphocyte morphology	81704	DOCK8	OMIM:243700
HP:0004332	Abnormal lymphocyte morphology	56160	NSMCE3	OMIM:617241
HP:0004332	Abnormal lymphocyte morphology	472	ATM	OMIM:208900
HP:0004332	Abnormal lymphocyte morphology	3953	LEPR	ORPHA:179494
HP:0004332	Abnormal lymphocyte morphology	3952	LEP	ORPHA:66628
HP:0004332	Abnormal lymphocyte morphology	7456	WIPF1	OMIM:614493
HP:0004332	Abnormal lymphocyte morphology	917	CD3G	OMIM:615607
HP:0004332	Abnormal lymphocyte morphology	925	CD8A	OMIM:608957
HP:0004332	Abnormal lymphocyte morphology	51095	TRNT1	OMIM:616084
HP:0004332	Abnormal lymphocyte morphology	22806	IKZF3	OMIM:619437
HP:0004332	Abnormal lymphocyte morphology	8517	IKBKG	OMIM:301081
HP:0004332	Abnormal lymphocyte morphology	3507	IGHM	OMIM:601495
HP:0004332	Abnormal lymphocyte morphology	974	CD79B	OMIM:612692
HP:0004332	Abnormal lymphocyte morphology	23250	ATP11A	OMIM:619851
HP:0004332	Abnormal lymphocyte morphology	79087	ALG12	ORPHA:79324
HP:0004332	Abnormal lymphocyte morphology	51311	TLR8	OMIM:301078
HP:0004332	Abnormal lymphocyte morphology	10320	IKZF1	OMIM:616873
HP:0004332	Abnormal lymphocyte morphology	51135	IRAK4	OMIM:607676
HP:0004332	Abnormal lymphocyte morphology	1130	LYST	ORPHA:167
HP:0004332	Abnormal lymphocyte morphology	5591	PRKDC	OMIM:615966
HP:0004332	Abnormal lymphocyte morphology	916	CD3E	OMIM:615615
HP:0004332	Abnormal lymphocyte morphology	915	CD3D	OMIM:615617
HP:0004332	Abnormal lymphocyte morphology	56259	CTNNBL1	OMIM:619846
HP:0004332	Abnormal lymphocyte morphology	5294	PIK3CG	OMIM:619802
HP:0004332	Abnormal lymphocyte morphology	5293	PIK3CD	ORPHA:221139
HP:0004332	Abnormal lymphocyte morphology	90417	KNSTRN	ORPHA:221139
HP:0004332	Abnormal lymphocyte morphology	96459	FNIP1	OMIM:619705
HP:0004332	Abnormal lymphocyte morphology	6688	SPI1	OMIM:619707
HP:0004332	Abnormal lymphocyte morphology	973	CD79A	OMIM:613501
HP:0004332	Abnormal lymphocyte morphology	3543	IGLL1	OMIM:613500
HP:0004332	Abnormal lymphocyte morphology	7922	SLC39A7	OMIM:619693
HP:0004332	Abnormal lymphocyte morphology	9138	ARHGEF1	OMIM:618459
HP:0004332	Abnormal lymphocyte morphology	60468	BACH2	OMIM:618394
HP:0004332	Abnormal lymphocyte morphology	8651	SOCS1	OMIM:619375
HP:0004332	Abnormal lymphocyte morphology	54790	TET2	OMIM:619126
HP:0004332	Abnormal lymphocyte morphology	10525	HYOU1	OMIM:233600
HP:0004332	Abnormal lymphocyte morphology	5336	PLCG2	OMIM:614878
HP:0004332	Abnormal lymphocyte morphology	3570	IL6R	OMIM:618944
HP:0004332	Abnormal lymphocyte morphology	987	LRBA	OMIM:614700
HP:0004332	Abnormal lymphocyte morphology	59067	IL21	OMIM:615767
HP:0004332	Abnormal lymphocyte morphology	3115	HLA-DPB1	ORPHA:133
HP:0004332	Abnormal lymphocyte morphology	64170	CARD9	OMIM:212050
HP:0004332	Abnormal lymphocyte morphology	355	FAS	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	356	FASLG	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	843	CASP10	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	641	BLM	ORPHA:125
HP:0004332	Abnormal lymphocyte morphology	5238	PGM3	ORPHA:443811
HP:0004332	Abnormal lymphocyte morphology	5994	RFXAP	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	4261	CIITA	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	5993	RFX5	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	8625	RFXANK	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	9948	WDR1	OMIM:150550
HP:0004332	Abnormal lymphocyte morphology	6850	SYK	OMIM:619381
HP:0004332	Abnormal lymphocyte morphology	50943	FOXP3	ORPHA:37042
HP:0004332	Abnormal lymphocyte morphology	399	RHOH	OMIM:618307
HP:0004332	Abnormal lymphocyte morphology	3561	IL2RG	ORPHA:276
HP:0004332	Abnormal lymphocyte morphology	64919	BCL11B	OMIM:617237
HP:0004332	Abnormal lymphocyte morphology	64919	BCL11B	OMIM:618092
HP:0004332	Abnormal lymphocyte morphology	5880	RAC2	OMIM:618986
HP:0004332	Abnormal lymphocyte morphology	5880	RAC2	OMIM:618987
HP:0004332	Abnormal lymphocyte morphology	5880	RAC2	OMIM:608203
HP:0004332	Abnormal lymphocyte morphology	6117	RPA1	OMIM:619767
HP:0004332	Abnormal lymphocyte morphology	79991	STN1	OMIM:617341
HP:0004332	Abnormal lymphocyte morphology	8456	FOXN1	OMIM:618806
HP:0004332	Abnormal lymphocyte morphology	64421	DCLRE1C	OMIM:602450
HP:0004332	Abnormal lymphocyte morphology	3937	LCP2	OMIM:619374
HP:0004332	Abnormal lymphocyte morphology	10159	ATP6AP2	OMIM:301045
HP:0004332	Abnormal lymphocyte morphology	920	CD4	OMIM:619238
HP:0004332	Abnormal lymphocyte morphology	90268	OTULIN	OMIM:617099
HP:0004332	Abnormal lymphocyte morphology	5580	PRKCD	OMIM:615559
HP:0004332	Abnormal lymphocyte morphology	10125	RASGRP1	OMIM:618534
HP:0004332	Abnormal lymphocyte morphology	51371	POMP	OMIM:618048
HP:0004332	Abnormal lymphocyte morphology	2624	GATA2	OMIM:614038
HP:0004332	Abnormal lymphocyte morphology	841	CASP8	OMIM:607271
HP:0004332	Abnormal lymphocyte morphology	3559	IL2RA	OMIM:606367
HP:0004332	Abnormal lymphocyte morphology	8546	AP3B1	OMIM:608233
HP:0004332	Abnormal lymphocyte morphology	50619	DEF6	OMIM:619573
HP:0004332	Abnormal lymphocyte morphology	3560	IL2RB	OMIM:618495
HP:0004332	Abnormal lymphocyte morphology	84876	ORAI1	OMIM:612782
HP:0004332	Abnormal lymphocyte morphology	10892	MALT1	OMIM:615468
HP:0004332	Abnormal lymphocyte morphology	6786	STIM1	OMIM:612783
HP:0004332	Abnormal lymphocyte morphology	970	CD70	OMIM:618261
HP:0004332	Abnormal lymphocyte morphology	4173	MCM4	OMIM:609981
HP:0004332	Abnormal lymphocyte morphology	58484	NLRC4	OMIM:616050
HP:0004332	Abnormal lymphocyte morphology	567	B2M	OMIM:241600
HP:0004332	Abnormal lymphocyte morphology	2214	FCGR3A	OMIM:615707
HP:0004332	Abnormal lymphocyte morphology	64858	DCLRE1B	OMIM:620133
HP:0004332	Abnormal lymphocyte morphology	2000	ELF4	OMIM:301074
HP:0004332	Abnormal lymphocyte morphology	5966	REL	OMIM:619652
HP:0004332	Abnormal lymphocyte morphology	3845	KRAS	OMIM:614470
HP:0004332	Abnormal lymphocyte morphology	4893	NRAS	OMIM:614470
HP:0004332	Abnormal lymphocyte morphology	79621	RNASEH2B	OMIM:610181
HP:0004332	Abnormal lymphocyte morphology	54914	FOCAD	OMIM:619991
HP:0004332	Abnormal lymphocyte morphology	84823	LMNB2	ORPHA:79087
HP:0004332	Abnormal lymphocyte morphology	10095	ARPC1B	OMIM:617718
HP:0004332	Abnormal lymphocyte morphology	331	XIAP	OMIM:308240
HP:0004332	Abnormal lymphocyte morphology	4068	SH2D1A	OMIM:308240
HP:0004332	Abnormal lymphocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0004332	Abnormal lymphocyte morphology	56244	BTNL2	ORPHA:797
HP:0004332	Abnormal lymphocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0004332	Abnormal lymphocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0004332	Abnormal lymphocyte morphology	5295	PIK3R1	OMIM:616005
HP:0004332	Abnormal lymphocyte morphology	8915	BCL10	OMIM:616098
HP:0004332	Abnormal lymphocyte morphology	6929	TCF3	OMIM:619824
HP:0004332	Abnormal lymphocyte morphology	27040	LAT	OMIM:617514
HP:0004332	Abnormal lymphocyte morphology	3978	LIG1	OMIM:619774
HP:0004332	Abnormal lymphocyte morphology	1503	CTPS1	OMIM:615897
HP:0100827	Lymphocytosis	5788	PTPRC	OMIM:619924
HP:0100827	Lymphocytosis	3071	NCKAP1L	OMIM:618982
HP:0100827	Lymphocytosis	84433	CARD11	OMIM:616452
HP:0100827	Lymphocytosis	3575	IL7R	ORPHA:169154
HP:0100827	Lymphocytosis	2000	ELF4	OMIM:301074
HP:0100827	Lymphocytosis	355	FAS	ORPHA:3261
HP:0100827	Lymphocytosis	356	FASLG	ORPHA:3261
HP:0100827	Lymphocytosis	5580	PRKCD	ORPHA:3261
HP:0100827	Lymphocytosis	843	CASP10	ORPHA:3261
HP:0100827	Lymphocytosis	10125	RASGRP1	ORPHA:3261
HP:0100827	Lymphocytosis	5966	REL	OMIM:619652
HP:0100827	Lymphocytosis	3845	KRAS	OMIM:614470
HP:0100827	Lymphocytosis	4893	NRAS	OMIM:614470
HP:0100827	Lymphocytosis	79621	RNASEH2B	OMIM:610181
HP:0100827	Lymphocytosis	54914	FOCAD	OMIM:619991
HP:0100827	Lymphocytosis	84823	LMNB2	ORPHA:79087
HP:0100827	Lymphocytosis	7535	ZAP70	ORPHA:911
HP:0100827	Lymphocytosis	10095	ARPC1B	OMIM:617718
HP:0100827	Lymphocytosis	331	XIAP	OMIM:308240
HP:0100827	Lymphocytosis	4068	SH2D1A	OMIM:308240
HP:0100827	Lymphocytosis	9451	EIF2AK3	ORPHA:1667
HP:0100827	Lymphocytosis	56244	BTNL2	ORPHA:797
HP:0100827	Lymphocytosis	3123	HLA-DRB1	ORPHA:797
HP:0012142	Pancreatic squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0012142	Pancreatic squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0012142	Pancreatic squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0012143	Abnormal megakaryocyte morphology	10019	SH2B3	ORPHA:3318
HP:0012143	Abnormal megakaryocyte morphology	7157	TP53	ORPHA:3318
HP:0012143	Abnormal megakaryocyte morphology	9630	GNA14	ORPHA:1063
HP:0012143	Abnormal megakaryocyte morphology	57169	ZNFX1	OMIM:619644
HP:0012143	Abnormal megakaryocyte morphology	3207	HOXA11	OMIM:605432
HP:0012143	Abnormal megakaryocyte morphology	56992	KIF15	OMIM:619981
HP:0012143	Abnormal megakaryocyte morphology	2533	FYB1	OMIM:273900
HP:0012143	Abnormal megakaryocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0012143	Abnormal megakaryocyte morphology	2811	GP1BA	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	2812	GP1BB	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	2815	GP9	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	811	CALR	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	4352	MPL	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	3717	JAK2	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	54790	TET2	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	54790	TET2	ORPHA:75564
HP:0012143	Abnormal megakaryocyte morphology	2623	GATA1	ORPHA:67044
HP:0012143	Abnormal megakaryocyte morphology	23451	SF3B1	ORPHA:75564
HP:0012143	Abnormal megakaryocyte morphology	6208	RPS14	ORPHA:86841
HP:0012143	Abnormal megakaryocyte morphology	2624	GATA2	OMIM:614172
HP:0012143	Abnormal megakaryocyte morphology	54809	SAMD9	OMIM:619041
HP:0012143	Abnormal megakaryocyte morphology	114803	MYSM1	ORPHA:508542
HP:0012143	Abnormal megakaryocyte morphology	4627	MYH9	OMIM:155100
HP:0012143	Abnormal megakaryocyte morphology	7317	UBA1	OMIM:301054
HP:0012143	Abnormal megakaryocyte morphology	55159	RFWD3	OMIM:617784
HP:0012143	Abnormal megakaryocyte morphology	22852	ANKRD26	OMIM:188000
HP:0012144	Abnormal monocyte morphology	10312	TCIRG1	ORPHA:486
HP:0012144	Abnormal monocyte morphology	1991	ELANE	ORPHA:486
HP:0012144	Abnormal monocyte morphology	1991	ELANE	OMIM:202700
HP:0012144	Abnormal monocyte morphology	2672	GFI1	ORPHA:486
HP:0012144	Abnormal monocyte morphology	2672	GFI1	OMIM:613107
HP:0012144	Abnormal monocyte morphology	6729	SRP54	ORPHA:486
HP:0012144	Abnormal monocyte morphology	81570	CLPB	ORPHA:486
HP:0012144	Abnormal monocyte morphology	5293	PIK3CD	OMIM:619281
HP:0012144	Abnormal monocyte morphology	92579	G6PC3	OMIM:612541
HP:0012144	Abnormal monocyte morphology	3551	IKBKB	OMIM:615592
HP:0012144	Abnormal monocyte morphology	3845	KRAS	OMIM:614470
HP:0012144	Abnormal monocyte morphology	4893	NRAS	OMIM:614470
HP:0012144	Abnormal monocyte morphology	57169	ZNFX1	OMIM:619644
HP:0012144	Abnormal monocyte morphology	51428	DDX41	OMIM:616871
HP:0012144	Abnormal monocyte morphology	5880	RAC2	OMIM:618986
HP:0012144	Abnormal monocyte morphology	7454	WAS	OMIM:300299
HP:0012144	Abnormal monocyte morphology	7454	WAS	ORPHA:86788
HP:0012144	Abnormal monocyte morphology	84433	CARD11	OMIM:615206
HP:0012144	Abnormal monocyte morphology	5294	PIK3CG	OMIM:619802
HP:0012144	Abnormal monocyte morphology	2624	GATA2	OMIM:614172
HP:0012144	Abnormal monocyte morphology	3394	IRF8	OMIM:226990
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	867	CBL	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	861	RUNX1	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7293	TNFRSF4	OMIM:615593
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5880	RAC2	OMIM:618986
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	987	LRBA	OMIM:614700
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7518	XRCC4	ORPHA:99812
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3981	LIG4	ORPHA:99812
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3981	LIG4	OMIM:606593
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	113235	SLC46A1	ORPHA:90045
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4125	MAN2B1	ORPHA:309282
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4125	MAN2B1	ORPHA:309288
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	58484	NLRC4	OMIM:616050
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4522	MTHFD1	OMIM:617780
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2175	FANCA	OMIM:227650
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55788	LMBRD1	OMIM:277380
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8029	CUBN	ORPHA:35858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81693	AMN	ORPHA:35858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	219285	SAMD9L	OMIM:159550
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	219285	SAMD9L	ORPHA:2585
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5994	RFXAP	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4261	CIITA	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5993	RFX5	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8625	RFXANK	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	27235	COQ2	OMIM:607426
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1777	DNASE2	OMIM:619858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3431	SP110	ORPHA:79124
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1854	DUT	OMIM:620044
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5277	PIGA	ORPHA:447
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5095	PCCA	OMIM:606054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5096	PCCB	OMIM:606054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2178	FANCE	OMIM:600901
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	57511	COG6	OMIM:614576
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	545	ATR	OMIM:210600
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10320	IKZF1	OMIM:616873
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:231005
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:231000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:85212
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:230800
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:2072
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:77261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:77259
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80216	ALPK1	OMIM:614979
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	326625	MMAB	OMIM:251110
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5873	RAB27A	ORPHA:79477
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54	ACP5	ORPHA:1855
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9051	PSTPIP1	OMIM:604416
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3702	ITK	OMIM:613011
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10056	FARSB	OMIM:613658
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	166785	MMAA	OMIM:251100
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	84868	HAVCR2	OMIM:618398
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3845	KRAS	OMIM:614470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4893	NRAS	OMIM:614470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	374879	ZNF699	OMIM:619488
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	60468	BACH2	OMIM:618394
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83737	ITCH	OMIM:613385
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83737	ITCH	ORPHA:228426
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5788	PTPRC	OMIM:619924
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64135	IFIH1	OMIM:615846
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3123	HLA-DRB1	OMIM:181000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55739	NAXD	OMIM:618321
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51081	MRPS7	OMIM:617872
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	84464	SLX4	OMIM:613951
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1719	DHFR	OMIM:613839
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	28962	OSTM1	OMIM:259720
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10535	RNASEH2A	OMIM:610333
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6929	TCF3	OMIM:619824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54938	SARS2	OMIM:613845
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6888	TALDO1	OMIM:606003
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	950	SCARB2	ORPHA:77259
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8600	TNFSF11	OMIM:259710
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	26277	TINF2	OMIM:268130
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	26277	TINF2	OMIM:613990
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	26277	TINF2	OMIM:127550
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	134218	DNAJC21	OMIM:617052
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	134218	DNAJC21	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2187	FANCB	OMIM:300514
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	331	XIAP	OMIM:300635
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	331	XIAP	OMIM:308240
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55651	NHP2	OMIM:224230
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55505	NOP10	OMIM:224230
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:614742
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:127550
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:613989
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:609135
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9401	RECQL4	ORPHA:221016
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7012	TERC	OMIM:614743
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7012	TERC	OMIM:127550
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10312	TCIRG1	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1991	ELANE	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2672	GFI1	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6729	SRP54	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6729	SRP54	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81570	CLPB	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2624	GATA2	OMIM:614172
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65057	ACD	OMIM:616553
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	939	CD27	OMIM:615122
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6731	SRP72	OMIM:614675
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79728	PALB2	OMIM:610832
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3207	HOXA11	OMIM:605432
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4068	SH2D1A	OMIM:308240
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4683	NBN	OMIM:609135
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51119	SBDS	OMIM:609135
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51119	SBDS	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3458	IFNG	OMIM:609135
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79631	EFL1	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64682	ANAPC1	ORPHA:221008
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4552	MTRR	ORPHA:2169
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	27249	MMADHC	ORPHA:79283
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6948	TCN2	OMIM:275350
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6948	TCN2	ORPHA:859
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	128	ADH5	OMIM:619151
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	OMIM:615190
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	ORPHA:3322
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2072	ERCC4	OMIM:615272
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5238	PGM3	ORPHA:443811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6154	RPL26	OMIM:614900
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1736	DKC1	OMIM:305000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1736	DKC1	ORPHA:3322
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1736	DKC1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6916	TBXAS1	OMIM:231095
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	375748	ERCC6L2	OMIM:615715
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	23451	SF3B1	ORPHA:75564
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54809	SAMD9	OMIM:619041
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	114803	MYSM1	ORPHA:508542
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	114803	MYSM1	OMIM:618116
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79991	STN1	OMIM:617341
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55596	ZCCHC8	OMIM:618674
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	50485	SMARCAL1	ORPHA:1830
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55215	FANCI	OMIM:609053
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51816	ADA2	OMIM:615688
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83990	BRIP1	OMIM:609054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65082	VPS33A	OMIM:617303
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65082	VPS33A	ORPHA:505248
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6117	RPA1	OMIM:619767
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55135	WRAP53	OMIM:613988
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55135	WRAP53	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1186	CLCN7	OMIM:166600
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2188	FANCF	OMIM:603467
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	675	BRCA2	OMIM:605724
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3930	LBR	OMIM:215140
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2177	FANCD2	OMIM:227646
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2176	FANCC	OMIM:227645
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55120	FANCL	OMIM:614083
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7040	TGFB1	OMIM:131300
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4194	MDM4	OMIM:618849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	ORPHA:3322
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	OMIM:616353
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51311	TLR8	OMIM:301078
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2778	GNAS	ORPHA:562
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3712	IVD	OMIM:243500
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51428	DDX41	OMIM:616871
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5888	RAD51	OMIM:617244
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10459	MAD2L2	OMIM:617243
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	57728	WDR19	OMIM:614378
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80169	CTC1	OMIM:612199
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80169	CTC1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79650	USB1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7298	TYMS	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	29089	UBE2T	OMIM:616435
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64858	DCLRE1B	OMIM:620133
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2313	FLI1	ORPHA:2308
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	760	CA2	ORPHA:2785
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8036	SHOC2	OMIM:607721
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80739	MPIG6B	OMIM:617441
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10019	SH2B3	OMIM:254450
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10019	SH2B3	ORPHA:3318
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7157	TP53	ORPHA:3318
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8328	GFI1B	OMIM:187900
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	23218	NBEAL2	OMIM:139090
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1130	LYST	ORPHA:167
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5551	PRF1	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8676	STX11	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	201294	UNC13D	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6813	STXBP2	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2623	GATA1	ORPHA:67044
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6774	STAT3	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5371	PML	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5914	RARA	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	359948	IRF2BP2	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81608	FIP1L1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4869	NPM1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5573	PRKAR1A	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54880	BCOR	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64859	NABP1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6777	STAT5B	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4926	NUMA1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7704	ZBTB16	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79718	TBL1XR1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9056	SLC7A7	ORPHA:470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	355	FAS	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	356	FASLG	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5580	PRKCD	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	843	CASP10	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10125	RASGRP1	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7852	CXCR4	ORPHA:51636
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7852	CXCR4	OMIM:193670
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6208	RPS14	ORPHA:86841
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	171023	ASXL1	ORPHA:98849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54790	TET2	ORPHA:98849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54790	TET2	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3815	KIT	ORPHA:98849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6427	SRSF2	ORPHA:98849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	811	CALR	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4352	MPL	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3717	JAK2	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6714	SRC	OMIM:616937
HP:0012146	Abnormality of von Willebrand factor	2157	F8	ORPHA:169802
HP:0012146	Abnormality of von Willebrand factor	2815	GP9	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2815	GP9	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	OMIM:153670
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	2812	GP1BB	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2812	GP1BB	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	OMIM:619271
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	ORPHA:849
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	OMIM:619267
HP:0012146	Abnormality of von Willebrand factor	3674	ITGA2B	OMIM:273800
HP:0012146	Abnormality of von Willebrand factor	3674	ITGA2B	ORPHA:849
HP:0012146	Abnormality of von Willebrand factor	51206	GP6	OMIM:614201
HP:0012146	Abnormality of von Willebrand factor	64376	IKZF5	OMIM:619130
HP:0012146	Abnormality of von Willebrand factor	2542	SLC37A4	ORPHA:79259
HP:0012146	Abnormality of von Willebrand factor	7450	VWF	OMIM:193400
HP:0012146	Abnormality of von Willebrand factor	23218	NBEAL2	OMIM:139090
HP:0012147	Reduced quantity of Von Willebrand factor	7450	VWF	OMIM:193400
HP:0012147	Reduced quantity of Von Willebrand factor	23218	NBEAL2	OMIM:139090
HP:0012148	Multiple lineage myelodysplasia	2624	GATA2	ORPHA:98827
HP:0012148	Multiple lineage myelodysplasia	6208	RPS14	ORPHA:86841
HP:0032581	Abnormal renal insterstitial morphology	6804	STX1A	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	7461	CLIP2	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	84277	DNAJC30	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	8468	FKBP6	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	5982	RFC2	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	2969	GTF2I	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	3984	LIMK1	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	9569	GTF2IRD1	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	155382	VPS37D	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	155368	METTL27	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	114049	BUD23	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	7458	EIF4H	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	84163	GTF2IRD2	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	9275	BCL7B	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	26608	TBL2	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	653361	NCF1	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	135886	TMEM270	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	51085	MLXIPL	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	9031	BAZ1B	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	2006	ELN	ORPHA:904
HP:0032581	Abnormal renal insterstitial morphology	1497	CTNS	ORPHA:411629
HP:0032581	Abnormal renal insterstitial morphology	9056	SLC7A7	ORPHA:470
HP:0032581	Abnormal renal insterstitial morphology	57107	PDSS2	ORPHA:255249
HP:0032581	Abnormal renal insterstitial morphology	27235	COQ2	ORPHA:255249
HP:0032581	Abnormal renal insterstitial morphology	10463	SLC30A9	OMIM:617595
HP:0032581	Abnormal renal insterstitial morphology	11222	MRPL3	OMIM:614582
HP:0032581	Abnormal renal insterstitial morphology	50943	FOXP3	ORPHA:37042
HP:0032581	Abnormal renal insterstitial morphology	1801	DPH1	OMIM:616901
HP:0032581	Abnormal renal insterstitial morphology	1801	DPH1	ORPHA:459061
HP:0032581	Abnormal renal insterstitial morphology	1376	CPT2	ORPHA:228302
HP:0032581	Abnormal renal insterstitial morphology	1376	CPT2	ORPHA:228308
HP:0032581	Abnormal renal insterstitial morphology	2303	FOXC2	ORPHA:33001
HP:0032581	Abnormal renal insterstitial morphology	26146	TRAF3IP1	OMIM:616629
HP:0032581	Abnormal renal insterstitial morphology	7840	ALMS1	OMIM:203800
HP:0032581	Abnormal renal insterstitial morphology	4594	MMUT	OMIM:251000
HP:0032581	Abnormal renal insterstitial morphology	83480	PUS3	ORPHA:488627
HP:0032581	Abnormal renal insterstitial morphology	55764	IFT122	OMIM:218330
HP:0032581	Abnormal renal insterstitial morphology	51134	CEP83	OMIM:615862
HP:0032581	Abnormal renal insterstitial morphology	4582	MUC1	OMIM:174000
HP:0032581	Abnormal renal insterstitial morphology	1188	CLCNKB	ORPHA:358
HP:0032581	Abnormal renal insterstitial morphology	6559	SLC12A3	ORPHA:358
HP:0032581	Abnormal renal insterstitial morphology	617	BCS1L	OMIM:124000
HP:0032581	Abnormal renal insterstitial morphology	56244	BTNL2	ORPHA:797
HP:0032581	Abnormal renal insterstitial morphology	3123	HLA-DRB1	ORPHA:797
HP:0032581	Abnormal renal insterstitial morphology	22909	FAN1	OMIM:614817
HP:0032581	Abnormal renal insterstitial morphology	57728	WDR19	OMIM:614376
HP:0032581	Abnormal renal insterstitial morphology	27130	INVS	OMIM:602088
HP:0032581	Abnormal renal insterstitial morphology	261734	NPHP4	OMIM:606966
HP:0032581	Abnormal renal insterstitial morphology	54	ACP5	OMIM:607944
HP:0032581	Abnormal renal insterstitial morphology	7809	BSND	OMIM:602522
HP:0032581	Abnormal renal insterstitial morphology	4867	NPHP1	OMIM:266900
HP:0032581	Abnormal renal insterstitial morphology	4867	NPHP1	OMIM:256100
HP:0032581	Abnormal renal insterstitial morphology	5972	REN	OMIM:613092
HP:0032581	Abnormal renal insterstitial morphology	5800	PTPRO	OMIM:614196
HP:0032581	Abnormal renal insterstitial morphology	5314	PKHD1	OMIM:263200
HP:0032581	Abnormal renal insterstitial morphology	137682	NDUFAF6	OMIM:618913
HP:0032581	Abnormal renal insterstitial morphology	2632	GBE1	OMIM:232500
HP:0032581	Abnormal renal insterstitial morphology	84168	ANTXR1	OMIM:230740
HP:0032581	Abnormal renal insterstitial morphology	1184	CLCN5	OMIM:310468
HP:0032581	Abnormal renal insterstitial morphology	27031	NPHP3	OMIM:604387
HP:0032581	Abnormal renal insterstitial morphology	2542	SLC37A4	ORPHA:79259
HP:0032581	Abnormal renal insterstitial morphology	51473	DCDC2	ORPHA:84081
HP:0032581	Abnormal renal insterstitial morphology	91147	TMEM67	ORPHA:84081
HP:0032581	Abnormal renal insterstitial morphology	23322	RPGRIP1L	OMIM:619113
HP:0032581	Abnormal renal insterstitial morphology	7289	TULP3	OMIM:619902
HP:0032581	Abnormal renal insterstitial morphology	29880	ALG5	OMIM:620056
HP:0032588	Hand apraxia	6792	CDKL5	ORPHA:3095
HP:0032588	Hand apraxia	22854	NTNG1	ORPHA:3095
HP:0032588	Hand apraxia	9568	GABBR2	ORPHA:3095
HP:0032588	Hand apraxia	4204	MECP2	ORPHA:3095
HP:0032588	Hand apraxia	8243	SMC1A	ORPHA:3095
HP:0032588	Hand apraxia	5354	PLP1	ORPHA:280229
HP:0012150	Single lineage myelodysplasia	2065	ERBB3	OMIM:133180
HP:0012150	Single lineage myelodysplasia	150274	HSCB	OMIM:619523
HP:0012150	Single lineage myelodysplasia	3313	HSPA9	OMIM:182170
HP:0012150	Single lineage myelodysplasia	23451	SF3B1	ORPHA:75564
HP:0012150	Single lineage myelodysplasia	54790	TET2	ORPHA:98826
HP:0012151	Hemothorax	2131	EXT1	ORPHA:321
HP:0012151	Hemothorax	2132	EXT2	ORPHA:321
HP:0012151	Hemothorax	1281	COL3A1	OMIM:130050
HP:0012151	Hemothorax	5345	SERPINF2	ORPHA:79
HP:0012151	Hemothorax	5345	SERPINF2	OMIM:262850
HP:0012151	Hemothorax	2022	ENG	OMIM:187300
HP:0012151	Hemothorax	440275	EIF2AK4	ORPHA:199241
HP:0012152	Foveoschisis	4942	OAT	OMIM:258870
HP:0012152	Foveoschisis	83552	MFRP	OMIM:611040
HP:0012153	Hypotriglyceridemia	22948	CCT5	OMIM:256840
HP:0012153	Hypotriglyceridemia	27329	ANGPTL3	OMIM:605019
HP:0012153	Hypotriglyceridemia	51128	SAR1B	OMIM:246700
HP:0012153	Hypotriglyceridemia	4547	MTTP	ORPHA:14
HP:0012153	Hypotriglyceridemia	1071	CETP	ORPHA:79506
HP:0012153	Hypotriglyceridemia	345	APOC3	ORPHA:79506
HP:0012153	Hypotriglyceridemia	345	APOC3	OMIM:614028
HP:0012153	Hypotriglyceridemia	55768	NGLY1	ORPHA:404454
HP:0012153	Hypotriglyceridemia	2590	GALNT2	OMIM:618885
HP:0012153	Hypotriglyceridemia	5130	PCYT1A	ORPHA:85167
HP:0012155	Decreased corneal sensation	4166	CHST6	ORPHA:98969
HP:0012155	Decreased corneal sensation	2263	FGFR2	ORPHA:2363
HP:0012155	Decreased corneal sensation	2261	FGFR3	ORPHA:2363
HP:0012155	Decreased corneal sensation	2255	FGF10	ORPHA:2363
HP:0012155	Decreased corneal sensation	7045	TGFBI	ORPHA:98964
HP:0012156	Hemophagocytosis	9056	SLC7A7	ORPHA:470
HP:0012156	Hemophagocytosis	9056	SLC7A7	OMIM:222700
HP:0012156	Hemophagocytosis	201294	UNC13D	OMIM:608898
HP:0012156	Hemophagocytosis	201294	UNC13D	ORPHA:540
HP:0012156	Hemophagocytosis	5873	RAB27A	OMIM:607624
HP:0012156	Hemophagocytosis	5873	RAB27A	ORPHA:79477
HP:0012156	Hemophagocytosis	84868	HAVCR2	ORPHA:86884
HP:0012156	Hemophagocytosis	84868	HAVCR2	OMIM:618398
HP:0012156	Hemophagocytosis	3702	ITK	OMIM:613011
HP:0012156	Hemophagocytosis	331	XIAP	OMIM:300635
HP:0012156	Hemophagocytosis	331	XIAP	OMIM:308240
HP:0012156	Hemophagocytosis	1777	DNASE2	OMIM:619858
HP:0012156	Hemophagocytosis	3717	JAK2	OMIM:254450
HP:0012156	Hemophagocytosis	10019	SH2B3	OMIM:254450
HP:0012156	Hemophagocytosis	811	CALR	OMIM:254450
HP:0012156	Hemophagocytosis	4352	MPL	OMIM:254450
HP:0012156	Hemophagocytosis	3458	IFNG	OMIM:618963
HP:0012156	Hemophagocytosis	51311	TLR8	OMIM:301078
HP:0012156	Hemophagocytosis	1130	LYST	ORPHA:167
HP:0012156	Hemophagocytosis	1130	LYST	OMIM:214500
HP:0012156	Hemophagocytosis	5551	PRF1	ORPHA:540
HP:0012156	Hemophagocytosis	5551	PRF1	OMIM:603553
HP:0012156	Hemophagocytosis	8676	STX11	ORPHA:540
HP:0012156	Hemophagocytosis	8676	STX11	OMIM:603552
HP:0012156	Hemophagocytosis	6813	STXBP2	ORPHA:540
HP:0012156	Hemophagocytosis	6813	STXBP2	OMIM:613101
HP:0012156	Hemophagocytosis	57169	ZNFX1	OMIM:619644
HP:0012156	Hemophagocytosis	939	CD27	OMIM:615122
HP:0012156	Hemophagocytosis	5294	PIK3CG	OMIM:619802
HP:0012156	Hemophagocytosis	4068	SH2D1A	OMIM:308240
HP:0012157	Subcortical cerebral atrophy	2639	GCDH	ORPHA:25
HP:0012157	Subcortical cerebral atrophy	80025	PANK2	OMIM:607236
HP:0012157	Subcortical cerebral atrophy	4125	MAN2B1	ORPHA:309282
HP:0012157	Subcortical cerebral atrophy	4125	MAN2B1	ORPHA:309288
HP:0012157	Subcortical cerebral atrophy	64072	CDH23	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	10083	USH1C	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	124590	USH1G	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	83715	ESPN	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	10518	CIB2	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4647	MYO7A	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4647	MYO7A	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	65217	PCDH15	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4644	MYO5A	ORPHA:33445
HP:0012157	Subcortical cerebral atrophy	7399	USH2A	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	79955	PDZD7	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	25861	WHRN	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	84059	ADGRV1	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	51360	MBTPS2	ORPHA:2273
HP:0012157	Subcortical cerebral atrophy	3975	LHX1	ORPHA:261265
HP:0012157	Subcortical cerebral atrophy	6928	HNF1B	ORPHA:261265
HP:0012157	Subcortical cerebral atrophy	2260	FGFR1	ORPHA:2396
HP:0012157	Subcortical cerebral atrophy	3845	KRAS	ORPHA:2396
HP:0012157	Subcortical cerebral atrophy	23729	SHPK	ORPHA:440713
HP:0012157	Subcortical cerebral atrophy	79813	EHMT1	ORPHA:96147
HP:0012157	Subcortical cerebral atrophy	10195	ALG3	ORPHA:79321
HP:0012157	Subcortical cerebral atrophy	91949	COG7	ORPHA:79333
HP:0012157	Subcortical cerebral atrophy	26123	TCTN3	ORPHA:2753
HP:0012157	Subcortical cerebral atrophy	23126	POGZ	ORPHA:468678
HP:0012157	Subcortical cerebral atrophy	71	ACTG1	ORPHA:2995
HP:0012157	Subcortical cerebral atrophy	60	ACTB	ORPHA:2995
HP:0012158	Carotid artery dissection	4087	SMAD2	OMIM:619656
HP:0012158	Carotid artery dissection	81031	SLC2A10	OMIM:208050
HP:0012158	Carotid artery dissection	55901	THSD1	OMIM:618734
HP:0012159	Internal carotid artery dissection	55901	THSD1	OMIM:618734
HP:0009100	Thick anterior alveolar ridges	10225	CD96	OMIM:211750
HP:0009101	Submucous cleft lip	2719	GPC3	OMIM:312870
HP:0009101	Submucous cleft lip	2239	GPC4	OMIM:312870
HP:0009102	Anterior open-bite malocclusion	265	AMELX	OMIM:301200
HP:0009102	Anterior open-bite malocclusion	3694	ITGB6	OMIM:616221
HP:0009102	Anterior open-bite malocclusion	84957	RELT	OMIM:618386
HP:0009102	Anterior open-bite malocclusion	650	BMP2	OMIM:617877
HP:0009102	Anterior open-bite malocclusion	1834	DSPP	OMIM:125500
HP:0009102	Anterior open-bite malocclusion	8111	GPR68	OMIM:617217
HP:0009102	Anterior open-bite malocclusion	10117	ENAM	OMIM:204650
HP:0009102	Anterior open-bite malocclusion	286077	FAM83H	OMIM:130900
HP:0009102	Anterior open-bite malocclusion	9622	KLK4	OMIM:204700
HP:0009102	Anterior open-bite malocclusion	526	ATP6V1B2	ORPHA:3473
HP:0009102	Anterior open-bite malocclusion	3756	KCNH1	ORPHA:3473
HP:0009102	Anterior open-bite malocclusion	3782	KCNN3	ORPHA:3473
HP:0009102	Anterior open-bite malocclusion	2773	GNAI3	OMIM:602483
HP:0009102	Anterior open-bite malocclusion	9313	MMP20	OMIM:612529
HP:0009103	Aplasia/Hypoplasia involving the pelvis	4148	MATN3	OMIM:608728
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3636	INPPL1	OMIM:258480
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3636	INPPL1	ORPHA:2746
HP:0009103	Aplasia/Hypoplasia involving the pelvis	6913	TBX15	OMIM:260660
HP:0009103	Aplasia/Hypoplasia involving the pelvis	2263	FGFR2	OMIM:614592
HP:0009103	Aplasia/Hypoplasia involving the pelvis	27152	INTU	OMIM:617925
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1302	COL11A2	OMIM:614524
HP:0009103	Aplasia/Hypoplasia involving the pelvis	26040	SETBP1	ORPHA:798
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3339	HSPG2	ORPHA:1865
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3459	IFNGR1	OMIM:209950
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3425	IDUA	OMIM:607014
HP:0009103	Aplasia/Hypoplasia involving the pelvis	26146	TRAF3IP1	OMIM:616629
HP:0009103	Aplasia/Hypoplasia involving the pelvis	10060	ABCC9	OMIM:239850
HP:0009103	Aplasia/Hypoplasia involving the pelvis	23522	KAT6B	OMIM:606170
HP:0009103	Aplasia/Hypoplasia involving the pelvis	10815	CPLX1	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	54872	PIGG	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	7469	NELFA	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1487	CTBP1	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3954	LETM1	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	7468	NSD2	ORPHA:280
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1311	COMP	ORPHA:750
HP:0009103	Aplasia/Hypoplasia involving the pelvis	2074	ERCC6	OMIM:133540
HP:0009103	Aplasia/Hypoplasia involving the pelvis	2261	FGFR3	OMIM:187600
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1280	COL2A1	OMIM:156550
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1280	COL2A1	ORPHA:85166
HP:0009103	Aplasia/Hypoplasia involving the pelvis	7476	WNT7A	OMIM:228930
HP:0009103	Aplasia/Hypoplasia involving the pelvis	153241	CEP120	OMIM:616300
HP:0009103	Aplasia/Hypoplasia involving the pelvis	64840	PORCN	ORPHA:2092
HP:0009103	Aplasia/Hypoplasia involving the pelvis	340419	RSPO2	OMIM:618022
HP:0009103	Aplasia/Hypoplasia involving the pelvis	50485	SMARCAL1	ORPHA:1830
HP:0009103	Aplasia/Hypoplasia involving the pelvis	50814	NSDHL	OMIM:308050
HP:0009103	Aplasia/Hypoplasia involving the pelvis	9820	CUL7	ORPHA:2616
HP:0009103	Aplasia/Hypoplasia involving the pelvis	9820	CUL7	OMIM:273750
HP:0009103	Aplasia/Hypoplasia involving the pelvis	23363	OBSL1	ORPHA:2616
HP:0009103	Aplasia/Hypoplasia involving the pelvis	83987	CCDC8	ORPHA:2616
HP:0009103	Aplasia/Hypoplasia involving the pelvis	25886	POC1A	OMIM:614813
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1161	ERCC8	OMIM:216400
HP:0009103	Aplasia/Hypoplasia involving the pelvis	7473	WNT3	OMIM:273395
HP:0009103	Aplasia/Hypoplasia involving the pelvis	2335	FN1	OMIM:184255
HP:0009103	Aplasia/Hypoplasia involving the pelvis	6399	TRAPPC2	ORPHA:93284
HP:0009103	Aplasia/Hypoplasia involving the pelvis	6399	TRAPPC2	OMIM:313400
HP:0009103	Aplasia/Hypoplasia involving the pelvis	65992	DDRGK1	OMIM:602557
HP:0009103	Aplasia/Hypoplasia involving the pelvis	9131	AIFM1	OMIM:300232
HP:0009103	Aplasia/Hypoplasia involving the pelvis	5885	RAD21	OMIM:614701
HP:0009103	Aplasia/Hypoplasia involving the pelvis	89970	RSPRY1	OMIM:616723
HP:0009103	Aplasia/Hypoplasia involving the pelvis	89970	RSPRY1	ORPHA:457395
HP:0009103	Aplasia/Hypoplasia involving the pelvis	755	CFAP410	OMIM:602271
HP:0009103	Aplasia/Hypoplasia involving the pelvis	4796	TONSL	ORPHA:93357
HP:0009103	Aplasia/Hypoplasia involving the pelvis	59341	TRPV4	ORPHA:93314
HP:0009103	Aplasia/Hypoplasia involving the pelvis	59341	TRPV4	OMIM:113500
HP:0009103	Aplasia/Hypoplasia involving the pelvis	91147	TMEM67	OMIM:602152
HP:0009103	Aplasia/Hypoplasia involving the pelvis	8720	MBTPS1	OMIM:618392
HP:0009103	Aplasia/Hypoplasia involving the pelvis	10651	MTX2	OMIM:619127
HP:0009103	Aplasia/Hypoplasia involving the pelvis	6473	SHOX	OMIM:249700
HP:0009103	Aplasia/Hypoplasia involving the pelvis	6473	SHOX	ORPHA:2632
HP:0009103	Aplasia/Hypoplasia involving the pelvis	23233	EXOC6B	OMIM:618395
HP:0009103	Aplasia/Hypoplasia involving the pelvis	8838	CCN6	ORPHA:1159
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1836	SLC26A2	ORPHA:93307
HP:0009103	Aplasia/Hypoplasia involving the pelvis	10216	PRG4	ORPHA:2848
HP:0009103	Aplasia/Hypoplasia involving the pelvis	388015	RTL1	ORPHA:96334
HP:0009103	Aplasia/Hypoplasia involving the pelvis	8788	DLK1	ORPHA:96334
HP:0009103	Aplasia/Hypoplasia involving the pelvis	55384	MEG3	ORPHA:96334
HP:0009103	Aplasia/Hypoplasia involving the pelvis	124583	CANT1	OMIM:251450
HP:0009103	Aplasia/Hypoplasia involving the pelvis	124583	CANT1	OMIM:617719
HP:0009103	Aplasia/Hypoplasia involving the pelvis	126792	B3GALT6	OMIM:271640
HP:0009103	Aplasia/Hypoplasia involving the pelvis	10940	POP1	OMIM:617396
HP:0009103	Aplasia/Hypoplasia involving the pelvis	4318	MMP9	OMIM:613073
HP:0009103	Aplasia/Hypoplasia involving the pelvis	84068	SLC10A7	OMIM:618363
HP:0009103	Aplasia/Hypoplasia involving the pelvis	5286	PIK3C2A	OMIM:618440
HP:0009103	Aplasia/Hypoplasia involving the pelvis	9469	CHST3	OMIM:143095
HP:0009103	Aplasia/Hypoplasia involving the pelvis	1108	CHD4	OMIM:617159
HP:0009103	Aplasia/Hypoplasia involving the pelvis	54187	NANS	OMIM:610442
HP:0009103	Aplasia/Hypoplasia involving the pelvis	64131	XYLT1	ORPHA:370930
HP:0009103	Aplasia/Hypoplasia involving the pelvis	658	BMPR1B	OMIM:609441
HP:0009103	Aplasia/Hypoplasia involving the pelvis	91252	SLC39A13	ORPHA:157965
HP:0009103	Aplasia/Hypoplasia involving the pelvis	91252	SLC39A13	OMIM:612350
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3549	IHH	OMIM:607778
HP:0009103	Aplasia/Hypoplasia involving the pelvis	860	RUNX2	OMIM:119600
HP:0009103	Aplasia/Hypoplasia involving the pelvis	9742	IFT140	OMIM:266920
HP:0009103	Aplasia/Hypoplasia involving the pelvis	80169	CTC1	OMIM:612199
HP:0009103	Aplasia/Hypoplasia involving the pelvis	3930	LBR	OMIM:618019
HP:0009103	Aplasia/Hypoplasia involving the pelvis	5830	PEX5	OMIM:616716
HP:0009104	Aplasia/Hypoplasia of the pubic bone	4148	MATN3	OMIM:608728
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3636	INPPL1	OMIM:258480
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3636	INPPL1	ORPHA:2746
HP:0009104	Aplasia/Hypoplasia of the pubic bone	6913	TBX15	OMIM:260660
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	OMIM:151210
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	OMIM:184250
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	ORPHA:93346
HP:0009104	Aplasia/Hypoplasia of the pubic bone	2263	FGFR2	OMIM:614592
HP:0009104	Aplasia/Hypoplasia of the pubic bone	27152	INTU	OMIM:617925
HP:0009104	Aplasia/Hypoplasia of the pubic bone	9820	CUL7	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	23363	OBSL1	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	83987	CCDC8	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1302	COL11A2	OMIM:614524
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3339	HSPG2	ORPHA:1865
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7476	WNT7A	OMIM:276820
HP:0009104	Aplasia/Hypoplasia of the pubic bone	10060	ABCC9	OMIM:239850
HP:0009104	Aplasia/Hypoplasia of the pubic bone	23522	KAT6B	OMIM:606170
HP:0009104	Aplasia/Hypoplasia of the pubic bone	10815	CPLX1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	54872	PIGG	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7469	NELFA	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1487	CTBP1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3954	LETM1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7468	NSD2	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	26040	SETBP1	OMIM:269150
HP:0009105	Abnormal ossification of the pubic bone	9896	FIG4	OMIM:216340
HP:0009105	Abnormal ossification of the pubic bone	145258	GSC	OMIM:602471
HP:0009105	Abnormal ossification of the pubic bone	10804	GJB6	ORPHA:477
HP:0009105	Abnormal ossification of the pubic bone	2706	GJB2	ORPHA:477
HP:0009105	Abnormal ossification of the pubic bone	23387	SIK3	OMIM:618162
HP:0009105	Abnormal ossification of the pubic bone	1280	COL2A1	OMIM:183900
HP:0009105	Abnormal ossification of the pubic bone	1280	COL2A1	ORPHA:93296
HP:0009105	Abnormal ossification of the pubic bone	1280	COL2A1	OMIM:184250
HP:0009105	Abnormal ossification of the pubic bone	1280	COL2A1	ORPHA:1856
HP:0009105	Abnormal ossification of the pubic bone	860	RUNX2	OMIM:119600
HP:0009105	Abnormal ossification of the pubic bone	865	CBFB	OMIM:620099
HP:0009105	Abnormal ossification of the pubic bone	579	NKX3-2	OMIM:613330
HP:0009105	Abnormal ossification of the pubic bone	2263	FGFR2	ORPHA:313855
HP:0009106	Abnormal pelvis bone ossification	9896	FIG4	OMIM:216340
HP:0009106	Abnormal pelvis bone ossification	145258	GSC	OMIM:602471
HP:0009106	Abnormal pelvis bone ossification	10804	GJB6	ORPHA:477
HP:0009106	Abnormal pelvis bone ossification	2706	GJB2	ORPHA:477
HP:0009106	Abnormal pelvis bone ossification	23387	SIK3	OMIM:618162
HP:0009106	Abnormal pelvis bone ossification	1280	COL2A1	OMIM:183900
HP:0009106	Abnormal pelvis bone ossification	1280	COL2A1	ORPHA:93296
HP:0009106	Abnormal pelvis bone ossification	1280	COL2A1	OMIM:184250
HP:0009106	Abnormal pelvis bone ossification	1280	COL2A1	ORPHA:1856
HP:0009106	Abnormal pelvis bone ossification	860	RUNX2	OMIM:119600
HP:0009106	Abnormal pelvis bone ossification	865	CBFB	OMIM:620099
HP:0009106	Abnormal pelvis bone ossification	579	NKX3-2	OMIM:613330
HP:0009106	Abnormal pelvis bone ossification	23592	LEMD3	ORPHA:166119
HP:0009106	Abnormal pelvis bone ossification	55112	DYNC2I1	ORPHA:93271
HP:0009106	Abnormal pelvis bone ossification	57560	IFT80	ORPHA:93271
HP:0009106	Abnormal pelvis bone ossification	57539	WDR35	ORPHA:93271
HP:0009106	Abnormal pelvis bone ossification	79659	DYNC2H1	ORPHA:93271
HP:0009106	Abnormal pelvis bone ossification	89891	DYNC2I2	ORPHA:93271
HP:0009106	Abnormal pelvis bone ossification	3930	LBR	ORPHA:1426
HP:0009106	Abnormal pelvis bone ossification	2263	FGFR2	ORPHA:313855
HP:0009107	Abnormal ossification involving the femoral head and neck	79848	CSPP1	ORPHA:397715
HP:0009107	Abnormal ossification involving the femoral head and neck	9786	KIAA0586	ORPHA:397715
HP:0009107	Abnormal ossification involving the femoral head and neck	5626	PROP1	ORPHA:226307
HP:0009107	Abnormal ossification involving the femoral head and neck	89884	LHX4	ORPHA:226307
HP:0009107	Abnormal ossification involving the femoral head and neck	8022	LHX3	ORPHA:226307
HP:0009107	Abnormal ossification involving the femoral head and neck	5449	POU1F1	ORPHA:226307
HP:0009107	Abnormal ossification involving the femoral head and neck	8820	HESX1	ORPHA:226307
HP:0009107	Abnormal ossification involving the femoral head and neck	405753	DUOXA2	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	6528	SLC5A5	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	7038	TG	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	7173	TPO	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	389434	IYD	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	50506	DUOX2	ORPHA:95716
HP:0009107	Abnormal ossification involving the femoral head and neck	100151683	RNU4ATAC	ORPHA:353298
HP:0009107	Abnormal ossification involving the femoral head and neck	1280	COL2A1	ORPHA:93296
HP:0009107	Abnormal ossification involving the femoral head and neck	4148	MATN3	ORPHA:93311
HP:0009107	Abnormal ossification involving the femoral head and neck	7253	TSHR	ORPHA:90673
HP:0009107	Abnormal ossification involving the femoral head and neck	7252	TSHB	ORPHA:90674
HP:0009107	Abnormal ossification involving the femoral head and neck	126792	B3GALT6	OMIM:271640
HP:0009107	Abnormal ossification involving the femoral head and neck	1836	SLC26A2	ORPHA:93307
HP:0009107	Abnormal ossification involving the femoral head and neck	54808	DYM	OMIM:607326
HP:0009107	Abnormal ossification involving the femoral head and neck	1311	COMP	ORPHA:750
HP:0009107	Abnormal ossification involving the femoral head and neck	55325	UFSP2	ORPHA:2114
HP:0009107	Abnormal ossification involving the femoral head and neck	415	ARSL	ORPHA:79345
HP:0009107	Abnormal ossification involving the femoral head and neck	2317	FLNB	ORPHA:1190
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	3459	IFNGR1	OMIM:209950
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	3425	IDUA	OMIM:607014
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	26146	TRAF3IP1	OMIM:616629
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1280	COL2A1	OMIM:184255
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1280	COL2A1	ORPHA:93316
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1280	COL2A1	OMIM:609162
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1280	COL2A1	ORPHA:94068
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1280	COL2A1	ORPHA:166011
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	2335	FN1	OMIM:184255
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1311	COMP	ORPHA:750
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1311	COMP	OMIM:132400
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	6399	TRAPPC2	ORPHA:93284
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	6399	TRAPPC2	OMIM:313400
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	65992	DDRGK1	OMIM:602557
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	9131	AIFM1	OMIM:300232
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	5885	RAD21	OMIM:614701
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	89970	RSPRY1	OMIM:616723
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	89970	RSPRY1	ORPHA:457395
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	755	CFAP410	OMIM:602271
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	4796	TONSL	ORPHA:93357
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	59341	TRPV4	ORPHA:93314
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	59341	TRPV4	OMIM:113500
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	91147	TMEM67	OMIM:602152
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	8720	MBTPS1	OMIM:618392
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	10651	MTX2	OMIM:619127
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	6473	SHOX	OMIM:249700
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	6473	SHOX	ORPHA:2632
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	23233	EXOC6B	OMIM:618395
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	8838	CCN6	ORPHA:1159
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1836	SLC26A2	ORPHA:93307
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	10216	PRG4	ORPHA:2848
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	388015	RTL1	ORPHA:96334
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	8788	DLK1	ORPHA:96334
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	55384	MEG3	ORPHA:96334
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	124583	CANT1	OMIM:251450
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	124583	CANT1	OMIM:617719
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	4148	MATN3	OMIM:607078
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	126792	B3GALT6	OMIM:271640
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	10940	POP1	OMIM:617396
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	4318	MMP9	OMIM:613073
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	84068	SLC10A7	OMIM:618363
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	5286	PIK3C2A	OMIM:618440
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	9469	CHST3	OMIM:143095
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	2261	FGFR3	OMIM:146000
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	2261	FGFR3	OMIM:100800
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1108	CHD4	OMIM:617159
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	54187	NANS	OMIM:610442
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	64131	XYLT1	ORPHA:370930
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	658	BMPR1B	OMIM:609441
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	91252	SLC39A13	ORPHA:157965
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	91252	SLC39A13	OMIM:612350
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	3549	IHH	OMIM:607778
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	860	RUNX2	OMIM:119600
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	9742	IFT140	OMIM:266920
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	80169	CTC1	OMIM:612199
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	3930	LBR	OMIM:618019
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	25886	POC1A	OMIM:614813
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	5830	PEX5	OMIM:616716
HP:0009109	Denervation of the diaphragm	54332	GDAP1	ORPHA:99948
HP:0009109	Denervation of the diaphragm	3508	IGHMBP2	OMIM:604320
HP:0032599	Abnormal renal tubular epithelial morphology	7369	UMOD	OMIM:162000
HP:0032599	Abnormal renal tubular epithelial morphology	23322	RPGRIP1L	OMIM:619113
HP:0032599	Abnormal renal tubular epithelial morphology	5972	REN	OMIM:613092
HP:0032599	Abnormal renal tubular epithelial morphology	91147	TMEM67	OMIM:613550
HP:0032599	Abnormal renal tubular epithelial morphology	63929	XPNPEP3	OMIM:613159
HP:0032599	Abnormal renal tubular epithelial morphology	84662	GLIS2	OMIM:611498
HP:0032599	Abnormal renal tubular epithelial morphology	57122	NUP107	OMIM:618348
HP:0032599	Abnormal renal tubular epithelial morphology	57122	NUP107	OMIM:616730
HP:0032599	Abnormal renal tubular epithelial morphology	55746	NUP133	OMIM:618349
HP:0032599	Abnormal renal tubular epithelial morphology	1184	CLCN5	OMIM:310468
HP:0032599	Abnormal renal tubular epithelial morphology	1184	CLCN5	OMIM:308990
HP:0032599	Abnormal renal tubular epithelial morphology	3675	ITGA3	OMIM:614748
HP:0032599	Abnormal renal tubular epithelial morphology	261734	NPHP4	OMIM:606966
HP:0032599	Abnormal renal tubular epithelial morphology	26276	VPS33B	OMIM:208085
HP:0032599	Abnormal renal tubular epithelial morphology	4643	MYO1E	OMIM:614131
HP:0032599	Abnormal renal tubular epithelial morphology	65082	VPS33A	OMIM:617303
HP:0032599	Abnormal renal tubular epithelial morphology	51134	CEP83	OMIM:615862
HP:0032599	Abnormal renal tubular epithelial morphology	4582	MUC1	OMIM:174000
HP:0032599	Abnormal renal tubular epithelial morphology	27031	NPHP3	OMIM:604387
HP:0032599	Abnormal renal tubular epithelial morphology	4867	NPHP1	OMIM:256100
HP:0032599	Abnormal renal tubular epithelial morphology	4868	NPHS1	OMIM:256300
HP:0012163	Carotid artery dilatation	51473	DCDC2	ORPHA:84081
HP:0012163	Carotid artery dilatation	91147	TMEM67	ORPHA:84081
HP:0012163	Carotid artery dilatation	4087	SMAD2	OMIM:619656
HP:0012163	Carotid artery dilatation	4087	SMAD2	ORPHA:91387
HP:0012163	Carotid artery dilatation	7048	TGFBR2	OMIM:610168
HP:0012163	Carotid artery dilatation	7048	TGFBR2	ORPHA:91387
HP:0012163	Carotid artery dilatation	6772	STAT1	ORPHA:391487
HP:0012163	Carotid artery dilatation	10043	TOM1	ORPHA:391487
HP:0012163	Carotid artery dilatation	4629	MYH11	ORPHA:229
HP:0012163	Carotid artery dilatation	4629	MYH11	ORPHA:91387
HP:0012163	Carotid artery dilatation	7046	TGFBR1	ORPHA:91387
HP:0012163	Carotid artery dilatation	4015	LOX	ORPHA:91387
HP:0012163	Carotid artery dilatation	7043	TGFB3	ORPHA:91387
HP:0012163	Carotid artery dilatation	4088	SMAD3	ORPHA:91387
HP:0012163	Carotid artery dilatation	7042	TGFB2	ORPHA:91387
HP:0012163	Carotid artery dilatation	4089	SMAD4	ORPHA:91387
HP:0012163	Carotid artery dilatation	2200	FBN1	ORPHA:91387
HP:0012163	Carotid artery dilatation	59	ACTA2	ORPHA:91387
HP:0012163	Carotid artery dilatation	5592	PRKG1	ORPHA:91387
HP:0012163	Carotid artery dilatation	2301	FOXE3	ORPHA:91387
HP:0012163	Carotid artery dilatation	4144	MAT2A	ORPHA:91387
HP:0012163	Carotid artery dilatation	23493	HEY2	ORPHA:91387
HP:0012163	Carotid artery dilatation	8076	MFAP5	ORPHA:91387
HP:0012163	Carotid artery dilatation	4638	MYLK	ORPHA:91387
HP:0012163	Carotid artery dilatation	2006	ELN	ORPHA:91387
HP:0012163	Carotid artery dilatation	10526	IPO8	OMIM:619472
HP:0012164	Asterixis	10165	SLC25A13	ORPHA:247585
HP:0012164	Asterixis	5205	ATP8B1	ORPHA:69665
HP:0012164	Asterixis	8647	ABCB11	ORPHA:69665
HP:0012164	Asterixis	5244	ABCB4	ORPHA:69665
HP:0012164	Asterixis	9971	NR1H4	ORPHA:69665
HP:0012165	Oligodactyly	157570	ESCO2	OMIM:268300
HP:0012165	Oligodactyly	6154	RPL26	OMIM:614900
HP:0012165	Oligodactyly	64840	PORCN	OMIM:305600
HP:0012165	Oligodactyly	10262	SF3B4	OMIM:154400
HP:0012165	Oligodactyly	7476	WNT7A	OMIM:228930
HP:0012165	Oligodactyly	7476	WNT7A	ORPHA:2879
HP:0012165	Oligodactyly	7476	WNT7A	OMIM:276820
HP:0012165	Oligodactyly	54567	DLL4	OMIM:616589
HP:0012165	Oligodactyly	64093	SMOC1	OMIM:206920
HP:0012165	Oligodactyly	64093	SMOC1	ORPHA:1106
HP:0012165	Oligodactyly	55636	CHD7	OMIM:214800
HP:0012165	Oligodactyly	727857	BHLHA9	ORPHA:1986
HP:0012165	Oligodactyly	23476	BRD4	ORPHA:199
HP:0012165	Oligodactyly	9126	SMC3	ORPHA:199
HP:0012165	Oligodactyly	8243	SMC1A	ORPHA:199
HP:0012165	Oligodactyly	25836	NIPBL	ORPHA:199
HP:0012165	Oligodactyly	55869	HDAC8	ORPHA:199
HP:0012165	Oligodactyly	5885	RAD21	ORPHA:199
HP:0012165	Oligodactyly	2737	GLI3	ORPHA:672
HP:0012165	Oligodactyly	2737	GLI3	OMIM:146510
HP:0012165	Oligodactyly	2737	GLI3	ORPHA:93322
HP:0012165	Oligodactyly	51360	MBTPS2	ORPHA:2273
HP:0012165	Oligodactyly	8364	H4C3	OMIM:619758
HP:0012165	Oligodactyly	9401	RECQL4	OMIM:218600
HP:0012165	Oligodactyly	8626	TP63	ORPHA:69085
HP:0012165	Oligodactyly	8626	TP63	ORPHA:2440
HP:0012165	Oligodactyly	54101	RIPK4	OMIM:263650
HP:0012165	Oligodactyly	56603	CYP26B1	OMIM:614416
HP:0012165	Oligodactyly	1750	DLX6	ORPHA:2440
HP:0012165	Oligodactyly	7979	SEM1	ORPHA:2440
HP:0012165	Oligodactyly	8945	BTRC	ORPHA:2440
HP:0012165	Oligodactyly	58513	EPS15L1	ORPHA:2440
HP:0012165	Oligodactyly	6468	FBXW4	ORPHA:2440
HP:0012165	Oligodactyly	7480	WNT10B	ORPHA:2440
HP:0012165	Oligodactyly	1749	DLX5	ORPHA:2440
HP:0012165	Oligodactyly	3239	HOXD13	OMIM:610713
HP:0012165	Oligodactyly	29980	DONSON	OMIM:251230
HP:0012165	Oligodactyly	4038	LRP4	ORPHA:3258
HP:0012165	Oligodactyly	324	APC	ORPHA:3258
HP:0012166	Skin-picking	9759	HDAC4	OMIM:600430
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177904
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177901
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177907
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:98754
HP:0012166	Skin-picking	4692	NDN	ORPHA:177904
HP:0012166	Skin-picking	4692	NDN	ORPHA:177901
HP:0012166	Skin-picking	4692	NDN	ORPHA:98754
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:177904
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:177901
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:398069
HP:0012166	Skin-picking	54551	MAGEL2	OMIM:615547
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:98754
HP:0012166	Skin-picking	4948	OCA2	ORPHA:177904
HP:0012166	Skin-picking	4948	OCA2	ORPHA:177901
HP:0012166	Skin-picking	4948	OCA2	ORPHA:98754
HP:0012166	Skin-picking	7874	USP7	ORPHA:500055
HP:0012166	Skin-picking	26038	CHD5	OMIM:619873
HP:0012166	Skin-picking	6492	SIM1	ORPHA:398079
HP:0012166	Skin-picking	55904	KMT2E	OMIM:618512
HP:0012166	Skin-picking	6532	SLC6A4	OMIM:164230
HP:0012166	Skin-picking	3356	HTR2A	OMIM:164230
HP:0012166	Skin-picking	26047	CNTNAP2	ORPHA:163681
HP:0012167	Hair-pulling	23230	VPS13A	ORPHA:2388
HP:0012167	Hair-pulling	114798	SLITRK1	OMIM:613229
HP:0012167	Hair-pulling	1917	EEF1A2	OMIM:616393
HP:0012167	Hair-pulling	6509	SLC1A4	ORPHA:447997
HP:0012167	Hair-pulling	85358	SHANK3	ORPHA:48652
HP:0012168	Head-banging	23230	VPS13A	ORPHA:2388
HP:0012168	Head-banging	1798	DPAGT1	ORPHA:86309
HP:0012168	Head-banging	374969	SVBP	OMIM:618569
HP:0012168	Head-banging	6638	SNRPN	ORPHA:177907
HP:0012168	Head-banging	57551	TAOK1	OMIM:619575
HP:0012168	Head-banging	10524	KAT5	OMIM:619103
HP:0012168	Head-banging	5281	PIGF	OMIM:619356
HP:0012168	Head-banging	5594	MAPK1	OMIM:619087
HP:0012168	Head-banging	10743	RAI1	OMIM:182290
HP:0012169	Self-biting	10059	DNM1L	OMIM:614388
HP:0012169	Self-biting	476	ATP1A1	OMIM:618314
HP:0012169	Self-biting	9731	CEP104	OMIM:619988
HP:0012169	Self-biting	6857	SYT1	ORPHA:522077
HP:0012169	Self-biting	340533	NEXMIF	OMIM:300912
HP:0012169	Self-biting	2332	FMR1	OMIM:300624
HP:0012169	Self-biting	4914	NTRK1	ORPHA:642
HP:0012169	Self-biting	55367	PIDD1	OMIM:619827
HP:0032592	Aplasia of the right hemidiaphragm	7490	WT1	OMIM:608978
HP:0032592	Aplasia of the right hemidiaphragm	9578	CDC42BPB	OMIM:619841
HP:0009110	Diaphragmatic eventration	4036	LRP2	OMIM:222448
HP:0009110	Diaphragmatic eventration	1146	CHRNG	OMIM:265000
HP:0009110	Diaphragmatic eventration	7490	WT1	OMIM:608978
HP:0009110	Diaphragmatic eventration	374879	ZNF699	OMIM:619488
HP:0009110	Diaphragmatic eventration	440	ASNS	OMIM:615574
HP:0009110	Diaphragmatic eventration	8985	PLOD3	OMIM:612394
HP:0009110	Diaphragmatic eventration	131118	DNAJC19	OMIM:610198
HP:0009110	Diaphragmatic eventration	131118	DNAJC19	ORPHA:66634
HP:0009110	Diaphragmatic eventration	84466	MEGF10	OMIM:614399
HP:0009110	Diaphragmatic eventration	1954	MEGF8	OMIM:614976
HP:0009110	Diaphragmatic eventration	4654	MYOD1	OMIM:618975
HP:0009110	Diaphragmatic eventration	2783	GNB2	OMIM:619503
HP:0009110	Diaphragmatic eventration	9325	TRIP4	OMIM:616866
HP:0009110	Diaphragmatic eventration	196528	ARID2	OMIM:617808
HP:0009110	Diaphragmatic eventration	8854	ALDH1A2	OMIM:620025
HP:0009110	Diaphragmatic eventration	3508	IGHMBP2	OMIM:604320
HP:0009110	Diaphragmatic eventration	4534	MTM1	OMIM:310400
HP:0009110	Diaphragmatic eventration	64220	STRA6	OMIM:601186
HP:0009110	Diaphragmatic eventration	65055	REEP1	OMIM:620011
HP:0009113	Diaphragmatic weakness	22880	MORC2	ORPHA:466768
HP:0009113	Diaphragmatic weakness	2548	GAA	OMIM:232300
HP:0009113	Diaphragmatic weakness	7167	TPI1	ORPHA:868
HP:0009113	Diaphragmatic weakness	9531	BAG3	OMIM:612954
HP:0009113	Diaphragmatic weakness	65055	REEP1	OMIM:620011
HP:0009113	Diaphragmatic weakness	1134	CHRNA1	OMIM:601462
HP:0009113	Diaphragmatic weakness	7273	TTN	OMIM:603689
HP:0009113	Diaphragmatic weakness	59341	TRPV4	OMIM:606071
HP:0009113	Diaphragmatic weakness	59341	TRPV4	OMIM:181405
HP:0009113	Diaphragmatic weakness	84466	MEGF10	OMIM:614399
HP:0009113	Diaphragmatic weakness	113278	SLC52A3	OMIM:211500
HP:0009113	Diaphragmatic weakness	113278	SLC52A3	OMIM:211530
HP:0009113	Diaphragmatic weakness	3508	IGHMBP2	OMIM:604320
HP:0009113	Diaphragmatic weakness	5376	PMP22	ORPHA:101081
HP:0009113	Diaphragmatic weakness	1303	COL12A1	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1291	COL6A1	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1292	COL6A2	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1293	COL6A3	ORPHA:75840
HP:0009112	Aplasia of the left hemidiaphragm	7026	NR2F2	OMIM:618901
HP:0009112	Aplasia of the left hemidiaphragm	2627	GATA6	OMIM:600001
HP:0009112	Aplasia of the left hemidiaphragm	7490	WT1	OMIM:608978
HP:0009112	Aplasia of the left hemidiaphragm	79133	NDUFAF5	OMIM:618238
HP:0009112	Aplasia of the left hemidiaphragm	8854	ALDH1A2	OMIM:620025
HP:0009115	Aplasia/hypoplasia involving the skeleton	4625	MYH7	ORPHA:324604
HP:0009115	Aplasia/hypoplasia involving the skeleton	7273	TTN	ORPHA:324604
HP:0009115	Aplasia/hypoplasia involving the skeleton	79868	ALG13	OMIM:300884
HP:0009115	Aplasia/hypoplasia involving the skeleton	5649	RELN	ORPHA:89844
HP:0009115	Aplasia/hypoplasia involving the skeleton	10300	KATNB1	ORPHA:89844
HP:0009115	Aplasia/hypoplasia involving the skeleton	54820	NDE1	ORPHA:89844
HP:0009115	Aplasia/hypoplasia involving the skeleton	113189	CHST14	ORPHA:2953
HP:0009115	Aplasia/hypoplasia involving the skeleton	113189	CHST14	OMIM:601776
HP:0009115	Aplasia/hypoplasia involving the skeleton	29940	DSE	ORPHA:2953
HP:0009115	Aplasia/hypoplasia involving the skeleton	9692	PRORP	OMIM:619737
HP:0009115	Aplasia/hypoplasia involving the skeleton	9325	TRIP4	OMIM:616866
HP:0009115	Aplasia/hypoplasia involving the skeleton	54968	TMEM70	OMIM:614052
HP:0009115	Aplasia/hypoplasia involving the skeleton	1501	CTNND2	ORPHA:281
HP:0009115	Aplasia/hypoplasia involving the skeleton	9037	SEMA5A	ORPHA:281
HP:0009115	Aplasia/hypoplasia involving the skeleton	23545	ATP6V0A2	OMIM:278250
HP:0009115	Aplasia/hypoplasia involving the skeleton	59336	PRDM13	OMIM:619909
HP:0009115	Aplasia/hypoplasia involving the skeleton	23443	SLC35A3	OMIM:615553
HP:0009115	Aplasia/hypoplasia involving the skeleton	25914	RTTN	ORPHA:468631
HP:0009115	Aplasia/hypoplasia involving the skeleton	55165	CEP55	OMIM:236500
HP:0009115	Aplasia/hypoplasia involving the skeleton	55617	TASP1	OMIM:618950
HP:0009115	Aplasia/hypoplasia involving the skeleton	5075	PAX1	OMIM:615560
HP:0009115	Aplasia/hypoplasia involving the skeleton	60482	SLC5A7	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	4649	MYO9A	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	1103	CHAT	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	6576	SLC25A1	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	6843	VAMP1	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	375790	AGRN	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	127833	SYT2	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	6616	SNAP25	ORPHA:98914
HP:0009115	Aplasia/hypoplasia involving the skeleton	100506658	OCLN	OMIM:251290
HP:0009115	Aplasia/hypoplasia involving the skeleton	55717	WDR11	OMIM:620237
HP:0009115	Aplasia/hypoplasia involving the skeleton	342035	GLDN	OMIM:617194
HP:0009115	Aplasia/hypoplasia involving the skeleton	8565	YARS1	OMIM:619418
HP:0009115	Aplasia/hypoplasia involving the skeleton	11133	KPTN	ORPHA:397612
HP:0009115	Aplasia/hypoplasia involving the skeleton	26173	INTS1	OMIM:618571
HP:0009115	Aplasia/hypoplasia involving the skeleton	4897	NRCAM	OMIM:619833
HP:0009115	Aplasia/hypoplasia involving the skeleton	1134	CHRNA1	OMIM:608930
HP:0009115	Aplasia/hypoplasia involving the skeleton	1134	CHRNA1	OMIM:253290
HP:0009115	Aplasia/hypoplasia involving the skeleton	55209	SETD5	ORPHA:404440
HP:0009115	Aplasia/hypoplasia involving the skeleton	55209	SETD5	OMIM:615761
HP:0009115	Aplasia/hypoplasia involving the skeleton	5932	RBBP8	OMIM:606744
HP:0009115	Aplasia/hypoplasia involving the skeleton	5932	RBBP8	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	2073	ERCC5	OMIM:616570
HP:0009115	Aplasia/hypoplasia involving the skeleton	2073	ERCC5	ORPHA:1466
HP:0009115	Aplasia/hypoplasia involving the skeleton	80816	ASXL3	OMIM:615485
HP:0009115	Aplasia/hypoplasia involving the skeleton	27245	AHDC1	ORPHA:412069
HP:0009115	Aplasia/hypoplasia involving the skeleton	27245	AHDC1	OMIM:615829
HP:0009115	Aplasia/hypoplasia involving the skeleton	5184	PEPD	OMIM:170100
HP:0009115	Aplasia/hypoplasia involving the skeleton	5184	PEPD	ORPHA:742
HP:0009115	Aplasia/hypoplasia involving the skeleton	10084	PQBP1	ORPHA:93946
HP:0009115	Aplasia/hypoplasia involving the skeleton	10084	PQBP1	OMIM:309500
HP:0009115	Aplasia/hypoplasia involving the skeleton	57082	KNL1	OMIM:604321
HP:0009115	Aplasia/hypoplasia involving the skeleton	284403	WDR62	OMIM:604317
HP:0009115	Aplasia/hypoplasia involving the skeleton	55154	MSTO1	OMIM:617675
HP:0009115	Aplasia/hypoplasia involving the skeleton	55154	MSTO1	ORPHA:502423
HP:0009115	Aplasia/hypoplasia involving the skeleton	54453	RIN2	OMIM:613075
HP:0009115	Aplasia/hypoplasia involving the skeleton	1020	CDK5	OMIM:616342
HP:0009115	Aplasia/hypoplasia involving the skeleton	79029	AFG2B	OMIM:619616
HP:0009115	Aplasia/hypoplasia involving the skeleton	55681	SCYL2	OMIM:618766
HP:0009115	Aplasia/hypoplasia involving the skeleton	55681	SCYL2	ORPHA:1143
HP:0009115	Aplasia/hypoplasia involving the skeleton	4604	MYBPC1	OMIM:618524
HP:0009115	Aplasia/hypoplasia involving the skeleton	23327	NEDD4L	OMIM:617201
HP:0009115	Aplasia/hypoplasia involving the skeleton	89910	UBE3B	ORPHA:2707
HP:0009115	Aplasia/hypoplasia involving the skeleton	89910	UBE3B	OMIM:244450
HP:0009115	Aplasia/hypoplasia involving the skeleton	11285	B4GALT7	OMIM:130070
HP:0009115	Aplasia/hypoplasia involving the skeleton	26038	CHD5	OMIM:619873
HP:0009115	Aplasia/hypoplasia involving the skeleton	5034	P4HB	OMIM:112240
HP:0009115	Aplasia/hypoplasia involving the skeleton	5034	P4HB	ORPHA:2050
HP:0009115	Aplasia/hypoplasia involving the skeleton	1909	EDNRA	OMIM:616367
HP:0009115	Aplasia/hypoplasia involving the skeleton	79770	TXNDC15	OMIM:619879
HP:0009115	Aplasia/hypoplasia involving the skeleton	79770	TXNDC15	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	9091	PIGQ	OMIM:618548
HP:0009115	Aplasia/hypoplasia involving the skeleton	55210	ATAD3A	ORPHA:496790
HP:0009115	Aplasia/hypoplasia involving the skeleton	55210	ATAD3A	OMIM:617183
HP:0009115	Aplasia/hypoplasia involving the skeleton	55210	ATAD3A	OMIM:618810
HP:0009115	Aplasia/hypoplasia involving the skeleton	8818	DPM2	OMIM:615042
HP:0009115	Aplasia/hypoplasia involving the skeleton	8818	DPM2	ORPHA:329178
HP:0009115	Aplasia/hypoplasia involving the skeleton	4285	MIPEP	OMIM:617228
HP:0009115	Aplasia/hypoplasia involving the skeleton	163175	LGI4	OMIM:617468
HP:0009115	Aplasia/hypoplasia involving the skeleton	56975	FAM20C	ORPHA:1832
HP:0009115	Aplasia/hypoplasia involving the skeleton	56975	FAM20C	OMIM:259775
HP:0009115	Aplasia/hypoplasia involving the skeleton	84168	ANTXR1	OMIM:230740
HP:0009115	Aplasia/hypoplasia involving the skeleton	84168	ANTXR1	ORPHA:2067
HP:0009115	Aplasia/hypoplasia involving the skeleton	64919	BCL11B	OMIM:617237
HP:0009115	Aplasia/hypoplasia involving the skeleton	641	BLM	ORPHA:125
HP:0009115	Aplasia/hypoplasia involving the skeleton	25970	SH2B1	ORPHA:261197
HP:0009115	Aplasia/hypoplasia involving the skeleton	5881	RAC3	OMIM:618577
HP:0009115	Aplasia/hypoplasia involving the skeleton	9427	ECEL1	OMIM:615065
HP:0009115	Aplasia/hypoplasia involving the skeleton	7046	TGFBR1	OMIM:609192
HP:0009115	Aplasia/hypoplasia involving the skeleton	7046	TGFBR1	ORPHA:60030
HP:0009115	Aplasia/hypoplasia involving the skeleton	5426	POLE	OMIM:618336
HP:0009115	Aplasia/hypoplasia involving the skeleton	5081	PAX7	OMIM:618578
HP:0009115	Aplasia/hypoplasia involving the skeleton	389827	MYMK	OMIM:254940
HP:0009115	Aplasia/hypoplasia involving the skeleton	389827	MYMK	ORPHA:1358
HP:0009115	Aplasia/hypoplasia involving the skeleton	5813	PURA	ORPHA:314655
HP:0009115	Aplasia/hypoplasia involving the skeleton	3479	IGF1	ORPHA:73272
HP:0009115	Aplasia/hypoplasia involving the skeleton	3479	IGF1	OMIM:608747
HP:0009115	Aplasia/hypoplasia involving the skeleton	1281	COL3A1	OMIM:618343
HP:0009115	Aplasia/hypoplasia involving the skeleton	1281	COL3A1	ORPHA:2500
HP:0009115	Aplasia/hypoplasia involving the skeleton	54517	PUS7	OMIM:618342
HP:0009115	Aplasia/hypoplasia involving the skeleton	8573	CASK	OMIM:300749
HP:0009115	Aplasia/hypoplasia involving the skeleton	8573	CASK	ORPHA:163937
HP:0009115	Aplasia/hypoplasia involving the skeleton	79912	PYROXD1	OMIM:617258
HP:0009115	Aplasia/hypoplasia involving the skeleton	5396	PRRX1	OMIM:202650
HP:0009115	Aplasia/hypoplasia involving the skeleton	1798	DPAGT1	OMIM:608093
HP:0009115	Aplasia/hypoplasia involving the skeleton	57122	NUP107	OMIM:618348
HP:0009115	Aplasia/hypoplasia involving the skeleton	57122	NUP107	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	57122	NUP107	OMIM:616730
HP:0009115	Aplasia/hypoplasia involving the skeleton	27125	AFF4	ORPHA:444077
HP:0009115	Aplasia/hypoplasia involving the skeleton	10733	PLK4	OMIM:616171
HP:0009115	Aplasia/hypoplasia involving the skeleton	10733	PLK4	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	91754	NEK9	OMIM:617022
HP:0009115	Aplasia/hypoplasia involving the skeleton	6492	SIM1	ORPHA:171829
HP:0009115	Aplasia/hypoplasia involving the skeleton	51114	ZDHHC9	ORPHA:776
HP:0009115	Aplasia/hypoplasia involving the skeleton	65109	UPF3B	ORPHA:776
HP:0009115	Aplasia/hypoplasia involving the skeleton	4952	OCRL	ORPHA:534
HP:0009115	Aplasia/hypoplasia involving the skeleton	29954	POMT2	OMIM:236670
HP:0009115	Aplasia/hypoplasia involving the skeleton	9215	LARGE1	OMIM:236670
HP:0009115	Aplasia/hypoplasia involving the skeleton	79147	FKRP	OMIM:236670
HP:0009115	Aplasia/hypoplasia involving the skeleton	10585	POMT1	OMIM:236670
HP:0009115	Aplasia/hypoplasia involving the skeleton	2218	FKTN	OMIM:236670
HP:0009115	Aplasia/hypoplasia involving the skeleton	51132	RLIM	OMIM:300978
HP:0009115	Aplasia/hypoplasia involving the skeleton	63925	ZNF335	OMIM:615095
HP:0009115	Aplasia/hypoplasia involving the skeleton	22930	RAB3GAP1	OMIM:600118
HP:0009115	Aplasia/hypoplasia involving the skeleton	22930	RAB3GAP1	ORPHA:2510
HP:0009115	Aplasia/hypoplasia involving the skeleton	22930	RAB3GAP1	ORPHA:1387
HP:0009115	Aplasia/hypoplasia involving the skeleton	51434	ANAPC7	OMIM:619699
HP:0009115	Aplasia/hypoplasia involving the skeleton	92255	LMBRD2	OMIM:619694
HP:0009115	Aplasia/hypoplasia involving the skeleton	84068	SLC10A7	OMIM:618363
HP:0009115	Aplasia/hypoplasia involving the skeleton	201163	FLCN	OMIM:610883
HP:0009115	Aplasia/hypoplasia involving the skeleton	1312	COMT	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	221037	JMJD1C	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	2812	GP1BB	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	6239	RREB1	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	6899	TBX1	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	6899	TBX1	ORPHA:1727
HP:0009115	Aplasia/hypoplasia involving the skeleton	6899	TBX1	OMIM:188400
HP:0009115	Aplasia/hypoplasia involving the skeleton	7290	HIRA	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	9632	SEC24C	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	7353	UFD1	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	421	ARVCF	ORPHA:567
HP:0009115	Aplasia/hypoplasia involving the skeleton	84314	TMEM107	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	84314	TMEM107	OMIM:617562
HP:0009115	Aplasia/hypoplasia involving the skeleton	79867	TCTN2	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	80776	B9D2	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	79600	TCTN1	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	57096	RPGRIP1	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	80184	CEP290	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	51259	TMEM216	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	51259	TMEM216	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	57545	CC2D2A	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	91147	TMEM67	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	23322	RPGRIP1L	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	54903	MKS1	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	54903	MKS1	OMIM:249000
HP:0009115	Aplasia/hypoplasia involving the skeleton	65062	TMEM237	ORPHA:564
HP:0009115	Aplasia/hypoplasia involving the skeleton	7317	UBA1	OMIM:301830
HP:0009115	Aplasia/hypoplasia involving the skeleton	3188	HNRNPH2	OMIM:300986
HP:0009115	Aplasia/hypoplasia involving the skeleton	7846	TUBA1A	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	4654	MYOD1	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	4593	MUSK	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	4593	MUSK	OMIM:208150
HP:0009115	Aplasia/hypoplasia involving the skeleton	5913	RAPSN	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	5913	RAPSN	OMIM:618388
HP:0009115	Aplasia/hypoplasia involving the skeleton	6572	SLC18A3	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	285489	DOK7	ORPHA:994
HP:0009115	Aplasia/hypoplasia involving the skeleton	285489	DOK7	OMIM:618389
HP:0009115	Aplasia/hypoplasia involving the skeleton	50801	KCNK4	OMIM:618381
HP:0009115	Aplasia/hypoplasia involving the skeleton	134218	DNAJC21	OMIM:617052
HP:0009115	Aplasia/hypoplasia involving the skeleton	57061	HYMAI	ORPHA:96191
HP:0009115	Aplasia/hypoplasia involving the skeleton	5325	PLAGL1	ORPHA:96191
HP:0009115	Aplasia/hypoplasia involving the skeleton	10526	IPO8	OMIM:619472
HP:0009115	Aplasia/hypoplasia involving the skeleton	10526	IPO8	ORPHA:60030
HP:0009115	Aplasia/hypoplasia involving the skeleton	348180	CTU2	OMIM:618142
HP:0009115	Aplasia/hypoplasia involving the skeleton	6608	SMO	OMIM:241800
HP:0009115	Aplasia/hypoplasia involving the skeleton	2887	GRB10	ORPHA:96182
HP:0009115	Aplasia/hypoplasia involving the skeleton	1457	CSNK2A1	OMIM:617062
HP:0009115	Aplasia/hypoplasia involving the skeleton	2222	FDFT1	OMIM:618156
HP:0009115	Aplasia/hypoplasia involving the skeleton	203068	TUBB	OMIM:156610
HP:0009115	Aplasia/hypoplasia involving the skeleton	203068	TUBB	ORPHA:2505
HP:0009115	Aplasia/hypoplasia involving the skeleton	8567	MADD	OMIM:619005
HP:0009115	Aplasia/hypoplasia involving the skeleton	55640	FLVCR2	OMIM:225790
HP:0009115	Aplasia/hypoplasia involving the skeleton	23112	TNRC6B	OMIM:619243
HP:0009115	Aplasia/hypoplasia involving the skeleton	9373	PLAA	ORPHA:521426
HP:0009115	Aplasia/hypoplasia involving the skeleton	9373	PLAA	OMIM:617527
HP:0009115	Aplasia/hypoplasia involving the skeleton	93587	TRMT10A	ORPHA:391408
HP:0009115	Aplasia/hypoplasia involving the skeleton	84919	PPP1R15B	ORPHA:391408
HP:0009115	Aplasia/hypoplasia involving the skeleton	84919	PPP1R15B	OMIM:616817
HP:0009115	Aplasia/hypoplasia involving the skeleton	199221	DZIP1L	ORPHA:731
HP:0009115	Aplasia/hypoplasia involving the skeleton	5314	PKHD1	ORPHA:731
HP:0009115	Aplasia/hypoplasia involving the skeleton	60386	SLC25A19	OMIM:607196
HP:0009115	Aplasia/hypoplasia involving the skeleton	60386	SLC25A19	ORPHA:99742
HP:0009115	Aplasia/hypoplasia involving the skeleton	10436	EMG1	OMIM:211180
HP:0009115	Aplasia/hypoplasia involving the skeleton	10436	EMG1	ORPHA:1270
HP:0009115	Aplasia/hypoplasia involving the skeleton	6748	SSR4	OMIM:300934
HP:0009115	Aplasia/hypoplasia involving the skeleton	51082	POLR1D	OMIM:613717
HP:0009115	Aplasia/hypoplasia involving the skeleton	51082	POLR1D	ORPHA:861
HP:0009115	Aplasia/hypoplasia involving the skeleton	2801	GOLGA2	OMIM:620240
HP:0009115	Aplasia/hypoplasia involving the skeleton	114034	TOE1	ORPHA:284339
HP:0009115	Aplasia/hypoplasia involving the skeleton	114034	TOE1	OMIM:614969
HP:0009115	Aplasia/hypoplasia involving the skeleton	9562	MINPP1	ORPHA:284339
HP:0009115	Aplasia/hypoplasia involving the skeleton	55181	SMG8	OMIM:619268
HP:0009115	Aplasia/hypoplasia involving the skeleton	51109	RDH11	ORPHA:436245
HP:0009115	Aplasia/hypoplasia involving the skeleton	51002	TPRKB	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	84942	WDR73	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	84942	WDR73	OMIM:251300
HP:0009115	Aplasia/hypoplasia involving the skeleton	55644	OSGEP	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	55644	OSGEP	OMIM:617729
HP:0009115	Aplasia/hypoplasia involving the skeleton	10785	WDR4	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	55746	NUP133	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	112858	TP53RK	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	8270	LAGE3	ORPHA:2065
HP:0009115	Aplasia/hypoplasia involving the skeleton	8270	LAGE3	OMIM:301006
HP:0009115	Aplasia/hypoplasia involving the skeleton	2294	FOXF1	OMIM:265380
HP:0009115	Aplasia/hypoplasia involving the skeleton	6309	SC5D	ORPHA:46059
HP:0009115	Aplasia/hypoplasia involving the skeleton	6309	SC5D	OMIM:607330
HP:0009115	Aplasia/hypoplasia involving the skeleton	161742	SPRED1	OMIM:611431
HP:0009115	Aplasia/hypoplasia involving the skeleton	673	BRAF	OMIM:115150
HP:0009115	Aplasia/hypoplasia involving the skeleton	673	BRAF	OMIM:163950
HP:0009115	Aplasia/hypoplasia involving the skeleton	1303	COL12A1	ORPHA:75840
HP:0009115	Aplasia/hypoplasia involving the skeleton	1303	COL12A1	ORPHA:536516
HP:0009115	Aplasia/hypoplasia involving the skeleton	1291	COL6A1	ORPHA:75840
HP:0009115	Aplasia/hypoplasia involving the skeleton	1292	COL6A2	ORPHA:75840
HP:0009115	Aplasia/hypoplasia involving the skeleton	1293	COL6A3	ORPHA:75840
HP:0009115	Aplasia/hypoplasia involving the skeleton	80232	WDR26	ORPHA:513456
HP:0009115	Aplasia/hypoplasia involving the skeleton	80232	WDR26	OMIM:617616
HP:0009115	Aplasia/hypoplasia involving the skeleton	2314	FLII	ORPHA:819
HP:0009115	Aplasia/hypoplasia involving the skeleton	23096	IQSEC2	ORPHA:819
HP:0009115	Aplasia/hypoplasia involving the skeleton	23096	IQSEC2	ORPHA:397933
HP:0009115	Aplasia/hypoplasia involving the skeleton	10522	DEAF1	ORPHA:819
HP:0009115	Aplasia/hypoplasia involving the skeleton	5818	NECTIN1	ORPHA:3253
HP:0009115	Aplasia/hypoplasia involving the skeleton	29072	SETD2	OMIM:620157
HP:0009115	Aplasia/hypoplasia involving the skeleton	29072	SETD2	OMIM:620155
HP:0009115	Aplasia/hypoplasia involving the skeleton	26153	KIF26A	OMIM:620156
HP:0009115	Aplasia/hypoplasia involving the skeleton	1763	DNA2	OMIM:615807
HP:0009115	Aplasia/hypoplasia involving the skeleton	25778	DSTYK	OMIM:270750
HP:0009115	Aplasia/hypoplasia involving the skeleton	1801	DPH1	OMIM:616901
HP:0009115	Aplasia/hypoplasia involving the skeleton	1801	DPH1	ORPHA:459061
HP:0009115	Aplasia/hypoplasia involving the skeleton	9184	BUB3	ORPHA:1052
HP:0009115	Aplasia/hypoplasia involving the skeleton	699	BUB1	ORPHA:1052
HP:0009115	Aplasia/hypoplasia involving the skeleton	9319	TRIP13	ORPHA:1052
HP:0009115	Aplasia/hypoplasia involving the skeleton	23036	ZNF292	OMIM:619188
HP:0009115	Aplasia/hypoplasia involving the skeleton	23314	SATB2	OMIM:612313
HP:0009115	Aplasia/hypoplasia involving the skeleton	23314	SATB2	ORPHA:576283
HP:0009115	Aplasia/hypoplasia involving the skeleton	23314	SATB2	ORPHA:251028
HP:0009115	Aplasia/hypoplasia involving the skeleton	23314	SATB2	ORPHA:251019
HP:0009115	Aplasia/hypoplasia involving the skeleton	1906	EDN1	ORPHA:137888
HP:0009115	Aplasia/hypoplasia involving the skeleton	1906	EDN1	OMIM:615706
HP:0009115	Aplasia/hypoplasia involving the skeleton	2773	GNAI3	ORPHA:137888
HP:0009115	Aplasia/hypoplasia involving the skeleton	2773	GNAI3	OMIM:602483
HP:0009115	Aplasia/hypoplasia involving the skeleton	165	AEBP1	ORPHA:536532
HP:0009115	Aplasia/hypoplasia involving the skeleton	165	AEBP1	OMIM:618000
HP:0009115	Aplasia/hypoplasia involving the skeleton	3192	HNRNPU	ORPHA:238769
HP:0009115	Aplasia/hypoplasia involving the skeleton	26053	AUTS2	OMIM:615834
HP:0009115	Aplasia/hypoplasia involving the skeleton	26053	AUTS2	ORPHA:352490
HP:0009115	Aplasia/hypoplasia involving the skeleton	3211	HOXB1	OMIM:614744
HP:0009115	Aplasia/hypoplasia involving the skeleton	54499	TMCO1	OMIM:213980
HP:0009115	Aplasia/hypoplasia involving the skeleton	23137	SMC5	OMIM:620185
HP:0009115	Aplasia/hypoplasia involving the skeleton	10907	TXNL4A	OMIM:608572
HP:0009115	Aplasia/hypoplasia involving the skeleton	79759	ZNF668	OMIM:620194
HP:0009115	Aplasia/hypoplasia involving the skeleton	57459	GATAD2B	ORPHA:363686
HP:0009115	Aplasia/hypoplasia involving the skeleton	81887	LAS1L	ORPHA:3459
HP:0009115	Aplasia/hypoplasia involving the skeleton	10472	ZBTB18	OMIM:612337
HP:0009115	Aplasia/hypoplasia involving the skeleton	10472	ZBTB18	ORPHA:36367
HP:0009115	Aplasia/hypoplasia involving the skeleton	6949	TCOF1	OMIM:154500
HP:0009115	Aplasia/hypoplasia involving the skeleton	6949	TCOF1	ORPHA:861
HP:0009115	Aplasia/hypoplasia involving the skeleton	55275	VPS53	OMIM:615851
HP:0009115	Aplasia/hypoplasia involving the skeleton	7048	TGFBR2	OMIM:610168
HP:0009115	Aplasia/hypoplasia involving the skeleton	7048	TGFBR2	ORPHA:60030
HP:0009115	Aplasia/hypoplasia involving the skeleton	1062	CENPE	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	1062	CENPE	OMIM:616051
HP:0009115	Aplasia/hypoplasia involving the skeleton	79902	NUP85	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	84126	ATRIP	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	10293	TRAIP	ORPHA:808
HP:0009115	Aplasia/hypoplasia involving the skeleton	10293	TRAIP	OMIM:616777
HP:0009115	Aplasia/hypoplasia involving the skeleton	80324	PUS1	ORPHA:2598
HP:0009115	Aplasia/hypoplasia involving the skeleton	80324	PUS1	OMIM:600462
HP:0009115	Aplasia/hypoplasia involving the skeleton	51067	YARS2	ORPHA:2598
HP:0009115	Aplasia/hypoplasia involving the skeleton	64324	NSD1	ORPHA:3447
HP:0009115	Aplasia/hypoplasia involving the skeleton	8726	EED	ORPHA:3447
HP:0009115	Aplasia/hypoplasia involving the skeleton	23512	SUZ12	ORPHA:3447
HP:0009115	Aplasia/hypoplasia involving the skeleton	28962	OSTM1	OMIM:259720
HP:0009115	Aplasia/hypoplasia involving the skeleton	79228	THOC6	OMIM:613680
HP:0009115	Aplasia/hypoplasia involving the skeleton	2303	FOXC2	OMIM:153400
HP:0009115	Aplasia/hypoplasia involving the skeleton	7407	VARS1	OMIM:617802
HP:0009115	Aplasia/hypoplasia involving the skeleton	196528	ARID2	OMIM:617808
HP:0009115	Aplasia/hypoplasia involving the skeleton	8216	LZTR1	OMIM:605275
HP:0009115	Aplasia/hypoplasia involving the skeleton	8216	LZTR1	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	56052	ALG1	OMIM:608540
HP:0009115	Aplasia/hypoplasia involving the skeleton	10075	HUWE1	OMIM:309590
HP:0009115	Aplasia/hypoplasia involving the skeleton	10159	ATP6AP2	OMIM:301045
HP:0009115	Aplasia/hypoplasia involving the skeleton	91949	COG7	OMIM:608779
HP:0009115	Aplasia/hypoplasia involving the skeleton	91949	COG7	ORPHA:79333
HP:0009115	Aplasia/hypoplasia involving the skeleton	10735	STAG2	OMIM:301043
HP:0009115	Aplasia/hypoplasia involving the skeleton	10735	STAG2	OMIM:301022
HP:0009115	Aplasia/hypoplasia involving the skeleton	27238	GPKOW	ORPHA:2570
HP:0009115	Aplasia/hypoplasia involving the skeleton	1305	COL13A1	OMIM:616720
HP:0009115	Aplasia/hypoplasia involving the skeleton	2733	GLE1	ORPHA:1486
HP:0009115	Aplasia/hypoplasia involving the skeleton	2733	GLE1	OMIM:253310
HP:0009115	Aplasia/hypoplasia involving the skeleton	2733	GLE1	OMIM:611890
HP:0009115	Aplasia/hypoplasia involving the skeleton	79650	USB1	OMIM:604173
HP:0009115	Aplasia/hypoplasia involving the skeleton	4854	NOTCH3	OMIM:130720
HP:0009115	Aplasia/hypoplasia involving the skeleton	4854	NOTCH3	ORPHA:2789
HP:0009115	Aplasia/hypoplasia involving the skeleton	84162	BLTP1	OMIM:617822
HP:0009115	Aplasia/hypoplasia involving the skeleton	23291	FBXW11	OMIM:618914
HP:0009115	Aplasia/hypoplasia involving the skeleton	55906	ZC4H2	OMIM:314580
HP:0009115	Aplasia/hypoplasia involving the skeleton	2067	ERCC1	ORPHA:1466
HP:0009115	Aplasia/hypoplasia involving the skeleton	2067	ERCC1	OMIM:610758
HP:0009115	Aplasia/hypoplasia involving the skeleton	2074	ERCC6	ORPHA:1466
HP:0009115	Aplasia/hypoplasia involving the skeleton	2074	ERCC6	OMIM:214150
HP:0009115	Aplasia/hypoplasia involving the skeleton	57211	ADGRG6	OMIM:616503
HP:0009115	Aplasia/hypoplasia involving the skeleton	54539	NDUFB11	ORPHA:2556
HP:0009115	Aplasia/hypoplasia involving the skeleton	1349	COX7B	ORPHA:2556
HP:0009115	Aplasia/hypoplasia involving the skeleton	3052	HCCS	ORPHA:2556
HP:0009115	Aplasia/hypoplasia involving the skeleton	5723	PSPH	ORPHA:79350
HP:0009115	Aplasia/hypoplasia involving the skeleton	139285	AMER1	ORPHA:2780
HP:0009115	Aplasia/hypoplasia involving the skeleton	139285	AMER1	OMIM:300373
HP:0009115	Aplasia/hypoplasia involving the skeleton	6638	SNRPN	ORPHA:177907
HP:0009115	Aplasia/hypoplasia involving the skeleton	9343	EFTUD2	ORPHA:79113
HP:0009115	Aplasia/hypoplasia involving the skeleton	9343	EFTUD2	OMIM:610536
HP:0009115	Aplasia/hypoplasia involving the skeleton	84172	POLR1B	OMIM:618939
HP:0009115	Aplasia/hypoplasia involving the skeleton	84172	POLR1B	ORPHA:861
HP:0009115	Aplasia/hypoplasia involving the skeleton	760	CA2	ORPHA:2785
HP:0009115	Aplasia/hypoplasia involving the skeleton	9150	CTDP1	ORPHA:48431
HP:0009115	Aplasia/hypoplasia involving the skeleton	5297	PI4KA	OMIM:616531
HP:0009115	Aplasia/hypoplasia involving the skeleton	5297	PI4KA	ORPHA:98889
HP:0009115	Aplasia/hypoplasia involving the skeleton	5297	PI4KA	OMIM:619708
HP:0009115	Aplasia/hypoplasia involving the skeleton	113246	C12orf57	OMIM:218340
HP:0009115	Aplasia/hypoplasia involving the skeleton	374654	KIF7	OMIM:614120
HP:0009115	Aplasia/hypoplasia involving the skeleton	374654	KIF7	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	374654	KIF7	ORPHA:2189
HP:0009115	Aplasia/hypoplasia involving the skeleton	84700	MYO18B	OMIM:616549
HP:0009115	Aplasia/hypoplasia involving the skeleton	22931	RAB18	ORPHA:2510
HP:0009115	Aplasia/hypoplasia involving the skeleton	22931	RAB18	OMIM:614222
HP:0009115	Aplasia/hypoplasia involving the skeleton	128637	TBC1D20	ORPHA:2510
HP:0009115	Aplasia/hypoplasia involving the skeleton	71	ACTG1	ORPHA:2995
HP:0009115	Aplasia/hypoplasia involving the skeleton	10210	TOPORS	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	9851	KIAA0753	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	5147	PDE6D	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	317662	FAM149B1	ORPHA:2754
HP:0009115	Aplasia/hypoplasia involving the skeleton	55553	SOX6	OMIM:618971
HP:0009115	Aplasia/hypoplasia involving the skeleton	1806	DPYD	ORPHA:293948
HP:0009115	Aplasia/hypoplasia involving the skeleton	4281	MID1	ORPHA:2745
HP:0009115	Aplasia/hypoplasia involving the skeleton	8398	PLA2G6	OMIM:256600
HP:0009115	Aplasia/hypoplasia involving the skeleton	246329	STAC3	OMIM:255995
HP:0009115	Aplasia/hypoplasia involving the skeleton	246329	STAC3	ORPHA:168572
HP:0009115	Aplasia/hypoplasia involving the skeleton	3762	KCNJ5	ORPHA:37553
HP:0009115	Aplasia/hypoplasia involving the skeleton	7528	YY1	ORPHA:506358
HP:0009115	Aplasia/hypoplasia involving the skeleton	7528	YY1	OMIM:617557
HP:0009115	Aplasia/hypoplasia involving the skeleton	23141	ANKLE2	OMIM:616681
HP:0009115	Aplasia/hypoplasia involving the skeleton	8294	H4C9	OMIM:619951
HP:0009115	Aplasia/hypoplasia involving the skeleton	83932	SPRTN	OMIM:616200
HP:0009115	Aplasia/hypoplasia involving the skeleton	8425	LTBP4	OMIM:613177
HP:0009115	Aplasia/hypoplasia involving the skeleton	5830	PEX5	OMIM:214110
HP:0009115	Aplasia/hypoplasia involving the skeleton	5830	PEX5	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	64220	STRA6	OMIM:601186
HP:0009115	Aplasia/hypoplasia involving the skeleton	3020	H3-3A	OMIM:619720
HP:0009115	Aplasia/hypoplasia involving the skeleton	72	ACTG2	ORPHA:2604
HP:0009115	Aplasia/hypoplasia involving the skeleton	2201	FBN2	OMIM:121050
HP:0009115	Aplasia/hypoplasia involving the skeleton	129563	DIS3L2	ORPHA:2849
HP:0009115	Aplasia/hypoplasia involving the skeleton	129563	DIS3L2	OMIM:267000
HP:0009115	Aplasia/hypoplasia involving the skeleton	4286	MITF	OMIM:617306
HP:0009115	Aplasia/hypoplasia involving the skeleton	5189	PEX1	OMIM:214100
HP:0009115	Aplasia/hypoplasia involving the skeleton	5189	PEX1	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	716	C1S	ORPHA:75392
HP:0009115	Aplasia/hypoplasia involving the skeleton	715	C1R	ORPHA:75392
HP:0009115	Aplasia/hypoplasia involving the skeleton	25885	POLR1A	OMIM:616462
HP:0009115	Aplasia/hypoplasia involving the skeleton	10381	TUBB3	ORPHA:300570
HP:0009115	Aplasia/hypoplasia involving the skeleton	2626	GATA4	ORPHA:251071
HP:0009115	Aplasia/hypoplasia involving the skeleton	6872	TAF1	ORPHA:480907
HP:0009115	Aplasia/hypoplasia involving the skeleton	22872	SEC31A	OMIM:618651
HP:0009115	Aplasia/hypoplasia involving the skeleton	4763	NF1	ORPHA:363700
HP:0009115	Aplasia/hypoplasia involving the skeleton	5424	POLD1	OMIM:615381
HP:0009115	Aplasia/hypoplasia involving the skeleton	57498	KIDINS220	OMIM:619501
HP:0009115	Aplasia/hypoplasia involving the skeleton	4174	MCM5	OMIM:617564
HP:0009115	Aplasia/hypoplasia involving the skeleton	2783	GNB2	OMIM:619503
HP:0009115	Aplasia/hypoplasia involving the skeleton	1789	DNMT3B	OMIM:242860
HP:0009115	Aplasia/hypoplasia involving the skeleton	1789	DNMT3B	ORPHA:2268
HP:0009115	Aplasia/hypoplasia involving the skeleton	63895	PIEZO2	OMIM:114300
HP:0009115	Aplasia/hypoplasia involving the skeleton	63895	PIEZO2	OMIM:248700
HP:0009115	Aplasia/hypoplasia involving the skeleton	63895	PIEZO2	ORPHA:2461
HP:0009115	Aplasia/hypoplasia involving the skeleton	54914	FOCAD	OMIM:619991
HP:0009115	Aplasia/hypoplasia involving the skeleton	286	ANK1	ORPHA:251066
HP:0009115	Aplasia/hypoplasia involving the skeleton	2248	FGF3	OMIM:610706
HP:0009115	Aplasia/hypoplasia involving the skeleton	2248	FGF3	ORPHA:90024
HP:0009115	Aplasia/hypoplasia involving the skeleton	53335	BCL11A	OMIM:617101
HP:0009115	Aplasia/hypoplasia involving the skeleton	9928	KIF14	OMIM:616258
HP:0009115	Aplasia/hypoplasia involving the skeleton	2542	SLC37A4	OMIM:619525
HP:0009115	Aplasia/hypoplasia involving the skeleton	286053	NSMCE2	ORPHA:436182
HP:0009115	Aplasia/hypoplasia involving the skeleton	2556	GABRA3	OMIM:301091
HP:0009115	Aplasia/hypoplasia involving the skeleton	4626	MYH8	OMIM:158300
HP:0009115	Aplasia/hypoplasia involving the skeleton	57724	EPG5	OMIM:242840
HP:0009115	Aplasia/hypoplasia involving the skeleton	23162	MAPK8IP3	OMIM:618443
HP:0009115	Aplasia/hypoplasia involving the skeleton	4123	MAN2C1	OMIM:619775
HP:0009115	Aplasia/hypoplasia involving the skeleton	23219	FBXO28	OMIM:619777
HP:0009115	Aplasia/hypoplasia involving the skeleton	8295	TRRAP	OMIM:618454
HP:0009115	Aplasia/hypoplasia involving the skeleton	3763	KCNJ6	OMIM:614098
HP:0009115	Aplasia/hypoplasia involving the skeleton	3763	KCNJ6	ORPHA:435628
HP:0009115	Aplasia/hypoplasia involving the skeleton	9533	POLR1C	OMIM:248390
HP:0009115	Aplasia/hypoplasia involving the skeleton	9533	POLR1C	ORPHA:861
HP:0009115	Aplasia/hypoplasia involving the skeleton	29968	PSAT1	OMIM:616038
HP:0009115	Aplasia/hypoplasia involving the skeleton	29968	PSAT1	ORPHA:284417
HP:0009115	Aplasia/hypoplasia involving the skeleton	58497	PRUNE1	ORPHA:544469
HP:0009115	Aplasia/hypoplasia involving the skeleton	5062	PAK2	OMIM:618458
HP:0009115	Aplasia/hypoplasia involving the skeleton	54892	NCAPG2	OMIM:618460
HP:0009115	Aplasia/hypoplasia involving the skeleton	8506	CNTNAP1	OMIM:616286
HP:0009115	Aplasia/hypoplasia involving the skeleton	8506	CNTNAP1	OMIM:618186
HP:0009115	Aplasia/hypoplasia involving the skeleton	221496	LEMD2	OMIM:619322
HP:0009115	Aplasia/hypoplasia involving the skeleton	1363	CPE	OMIM:619326
HP:0009115	Aplasia/hypoplasia involving the skeleton	1289	COL5A1	OMIM:619329
HP:0009115	Aplasia/hypoplasia involving the skeleton	6904	TBCD	ORPHA:496641
HP:0009115	Aplasia/hypoplasia involving the skeleton	6904	TBCD	OMIM:617193
HP:0009115	Aplasia/hypoplasia involving the skeleton	170302	ARX	ORPHA:452
HP:0009115	Aplasia/hypoplasia involving the skeleton	170302	ARX	OMIM:300215
HP:0009115	Aplasia/hypoplasia involving the skeleton	23221	RHOBTB2	OMIM:618004
HP:0009115	Aplasia/hypoplasia involving the skeleton	8260	NAA10	OMIM:300855
HP:0009115	Aplasia/hypoplasia involving the skeleton	1147	CHUK	OMIM:619339
HP:0009115	Aplasia/hypoplasia involving the skeleton	3481	IGF2	OMIM:180860
HP:0009115	Aplasia/hypoplasia involving the skeleton	3481	IGF2	ORPHA:397590
HP:0009115	Aplasia/hypoplasia involving the skeleton	8091	HMGA2	ORPHA:94063
HP:0009115	Aplasia/hypoplasia involving the skeleton	8091	HMGA2	ORPHA:397590
HP:0009115	Aplasia/hypoplasia involving the skeleton	23592	LEMD3	ORPHA:94063
HP:0009115	Aplasia/hypoplasia involving the skeleton	26276	VPS33B	OMIM:208085
HP:0009115	Aplasia/hypoplasia involving the skeleton	5277	PIGA	OMIM:300868
HP:0009115	Aplasia/hypoplasia involving the skeleton	51305	KCNK9	ORPHA:166108
HP:0009115	Aplasia/hypoplasia involving the skeleton	80347	COASY	OMIM:618266
HP:0009115	Aplasia/hypoplasia involving the skeleton	51604	PIGT	ORPHA:369837
HP:0009115	Aplasia/hypoplasia involving the skeleton	5530	PPP3CA	OMIM:618265
HP:0009115	Aplasia/hypoplasia involving the skeleton	5530	PPP3CA	OMIM:617711
HP:0009115	Aplasia/hypoplasia involving the skeleton	60529	ALX4	ORPHA:52022
HP:0009115	Aplasia/hypoplasia involving the skeleton	51317	PHF21A	ORPHA:52022
HP:0009115	Aplasia/hypoplasia involving the skeleton	23405	DICER1	OMIM:618272
HP:0009115	Aplasia/hypoplasia involving the skeleton	10220	GDF11	OMIM:619122
HP:0009115	Aplasia/hypoplasia involving the skeleton	90416	CCDC32	OMIM:619123
HP:0009115	Aplasia/hypoplasia involving the skeleton	5080	PAX6	ORPHA:893
HP:0009115	Aplasia/hypoplasia involving the skeleton	627	BDNF	ORPHA:893
HP:0009115	Aplasia/hypoplasia involving the skeleton	7490	WT1	ORPHA:893
HP:0009115	Aplasia/hypoplasia involving the skeleton	84905	ZNF341	OMIM:618282
HP:0009115	Aplasia/hypoplasia involving the skeleton	1984	EIF5A	OMIM:619376
HP:0009115	Aplasia/hypoplasia involving the skeleton	5236	PGM1	OMIM:614921
HP:0009115	Aplasia/hypoplasia involving the skeleton	3295	HSD17B4	OMIM:261515
HP:0009115	Aplasia/hypoplasia involving the skeleton	867	CBL	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	6016	RIT1	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	6237	RRAS	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	5894	RAF1	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	22808	MRAS	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	200734	SPRED2	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	4893	NRAS	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	6654	SOS1	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	6655	SOS2	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	5922	RASA2	ORPHA:648
HP:0009115	Aplasia/hypoplasia involving the skeleton	23299	BICD2	OMIM:618291
HP:0009115	Aplasia/hypoplasia involving the skeleton	121340	SP7	OMIM:613849
HP:0009115	Aplasia/hypoplasia involving the skeleton	83483	PLVAP	OMIM:618183
HP:0009115	Aplasia/hypoplasia involving the skeleton	10128	LRPPRC	OMIM:220111
HP:0009115	Aplasia/hypoplasia involving the skeleton	199857	ALG14	OMIM:619036
HP:0009115	Aplasia/hypoplasia involving the skeleton	9871	SEC24D	ORPHA:2050
HP:0009115	Aplasia/hypoplasia involving the skeleton	775	CACNA1C	OMIM:620029
HP:0009115	Aplasia/hypoplasia involving the skeleton	55624	POMGNT1	OMIM:253280
HP:0009115	Aplasia/hypoplasia involving the skeleton	10274	STAG1	ORPHA:502434
HP:0009115	Aplasia/hypoplasia involving the skeleton	2629	GBA1	OMIM:608013
HP:0009115	Aplasia/hypoplasia involving the skeleton	23118	TAB2	ORPHA:228410
HP:0009115	Aplasia/hypoplasia involving the skeleton	58	ACTA1	ORPHA:171436
HP:0009115	Aplasia/hypoplasia involving the skeleton	58	ACTA1	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	58	ACTA1	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	4703	NEB	ORPHA:171436
HP:0009115	Aplasia/hypoplasia involving the skeleton	4703	NEB	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	10324	KLHL41	ORPHA:171436
HP:0009115	Aplasia/hypoplasia involving the skeleton	10324	KLHL41	OMIM:615731
HP:0009115	Aplasia/hypoplasia involving the skeleton	10324	KLHL41	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	56203	LMOD3	ORPHA:171436
HP:0009115	Aplasia/hypoplasia involving the skeleton	1073	CFL2	ORPHA:171436
HP:0009115	Aplasia/hypoplasia involving the skeleton	22858	CILK1	OMIM:612651
HP:0009115	Aplasia/hypoplasia involving the skeleton	3899	AFF3	OMIM:619297
HP:0009115	Aplasia/hypoplasia involving the skeleton	3483	IGFALS	ORPHA:140941
HP:0009115	Aplasia/hypoplasia involving the skeleton	283989	TSEN54	ORPHA:166063
HP:0009115	Aplasia/hypoplasia involving the skeleton	57190	SELENON	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	4633	MYL2	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	3679	ITGA7	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	9200	HACD1	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	7170	TPM3	ORPHA:2020
HP:0009115	Aplasia/hypoplasia involving the skeleton	7170	TPM3	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	3070	HELLS	ORPHA:2268
HP:0009115	Aplasia/hypoplasia involving the skeleton	83879	CDCA7	ORPHA:2268
HP:0009115	Aplasia/hypoplasia involving the skeleton	9841	ZBTB24	ORPHA:2268
HP:0009115	Aplasia/hypoplasia involving the skeleton	26005	C2CD3	OMIM:615948
HP:0009115	Aplasia/hypoplasia involving the skeleton	5826	ABCD4	OMIM:614857
HP:0009115	Aplasia/hypoplasia involving the skeleton	2615	LRRC32	OMIM:619074
HP:0009115	Aplasia/hypoplasia involving the skeleton	5828	PEX2	OMIM:614866
HP:0009115	Aplasia/hypoplasia involving the skeleton	5828	PEX2	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	6804	STX1A	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	7461	CLIP2	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	84277	DNAJC30	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	8468	FKBP6	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	5982	RFC2	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	2969	GTF2I	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	3984	LIMK1	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	9569	GTF2IRD1	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	155382	VPS37D	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	155368	METTL27	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	114049	BUD23	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	7458	EIF4H	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	84163	GTF2IRD2	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	9275	BCL7B	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	26608	TBL2	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	653361	NCF1	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	135886	TMEM270	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	51085	MLXIPL	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	9031	BAZ1B	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	2006	ELN	ORPHA:904
HP:0009115	Aplasia/hypoplasia involving the skeleton	10290	SPEG	OMIM:615959
HP:0009115	Aplasia/hypoplasia involving the skeleton	9289	ADGRG1	ORPHA:98889
HP:0009115	Aplasia/hypoplasia involving the skeleton	27286	SRPX2	ORPHA:98889
HP:0009115	Aplasia/hypoplasia involving the skeleton	51611	DPH5	OMIM:620070
HP:0009115	Aplasia/hypoplasia involving the skeleton	5700	PSMC1	OMIM:620071
HP:0009115	Aplasia/hypoplasia involving the skeleton	728294	D2HGDH	OMIM:600721
HP:0009115	Aplasia/hypoplasia involving the skeleton	2138	EYA1	ORPHA:52429
HP:0009115	Aplasia/hypoplasia involving the skeleton	6495	SIX1	ORPHA:52429
HP:0009115	Aplasia/hypoplasia involving the skeleton	1028	CDKN1C	ORPHA:397590
HP:0009115	Aplasia/hypoplasia involving the skeleton	5324	PLAG1	ORPHA:397590
HP:0009115	Aplasia/hypoplasia involving the skeleton	2065	ERBB3	OMIM:607598
HP:0009115	Aplasia/hypoplasia involving the skeleton	23065	EMC1	ORPHA:480898
HP:0009115	Aplasia/hypoplasia involving the skeleton	23065	EMC1	OMIM:616875
HP:0009115	Aplasia/hypoplasia involving the skeleton	81031	SLC2A10	OMIM:208050
HP:0009115	Aplasia/hypoplasia involving the skeleton	8504	PEX3	OMIM:614882
HP:0009115	Aplasia/hypoplasia involving the skeleton	8504	PEX3	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	84665	MYPN	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	390594	KBTBD13	ORPHA:171439
HP:0009115	Aplasia/hypoplasia involving the skeleton	50628	GEMIN4	OMIM:617913
HP:0009115	Aplasia/hypoplasia involving the skeleton	84570	COL25A1	ORPHA:1143
HP:0009115	Aplasia/hypoplasia involving the skeleton	57222	ERGIC1	ORPHA:1143
HP:0009115	Aplasia/hypoplasia involving the skeleton	5195	PEX14	OMIM:614887
HP:0009115	Aplasia/hypoplasia involving the skeleton	5195	PEX14	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	4313	MMP2	OMIM:259600
HP:0009115	Aplasia/hypoplasia involving the skeleton	84695	LOXL3	ORPHA:250984
HP:0009115	Aplasia/hypoplasia involving the skeleton	1144	CHRND	OMIM:253290
HP:0009115	Aplasia/hypoplasia involving the skeleton	55670	PEX26	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	5824	PEX19	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	8799	PEX11B	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	9409	PEX16	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	5190	PEX6	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	5193	PEX12	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	5194	PEX13	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	5192	PEX10	ORPHA:912
HP:0009115	Aplasia/hypoplasia involving the skeleton	9780	PIEZO1	OMIM:616843
HP:0009115	Aplasia/hypoplasia involving the skeleton	4683	NBN	OMIM:251260
HP:0009115	Aplasia/hypoplasia involving the skeleton	85358	SHANK3	OMIM:606232
HP:0009115	Aplasia/hypoplasia involving the skeleton	113179	ADAT3	ORPHA:363528
HP:0009115	Aplasia/hypoplasia involving the skeleton	10525	HYOU1	OMIM:233600
HP:0009115	Aplasia/hypoplasia involving the skeleton	30008	EFEMP2	OMIM:614437
HP:0009115	Aplasia/hypoplasia involving the skeleton	91869	RFT1	OMIM:612015
HP:0009115	Aplasia/hypoplasia involving the skeleton	5915	RARB	OMIM:615524
HP:0009115	Aplasia/hypoplasia involving the skeleton	5053	PAH	ORPHA:2209
HP:0009115	Aplasia/hypoplasia involving the skeleton	101929726	MYMX	ORPHA:1358
HP:0009115	Aplasia/hypoplasia involving the skeleton	101929726	MYMX	OMIM:619941
HP:0009115	Aplasia/hypoplasia involving the skeleton	4204	MECP2	OMIM:300055
HP:0009115	Aplasia/hypoplasia involving the skeleton	55603	TENT5A	OMIM:617952
HP:0009115	Aplasia/hypoplasia involving the skeleton	1063	CENPF	OMIM:243605
HP:0009115	Aplasia/hypoplasia involving the skeleton	91647	ATPAF2	OMIM:604273
HP:0009115	Aplasia/hypoplasia involving the skeleton	2186	BPTF	ORPHA:529962
HP:0009115	Aplasia/hypoplasia involving the skeleton	2186	BPTF	OMIM:617755
HP:0009115	Aplasia/hypoplasia involving the skeleton	84342	COG8	OMIM:611182
HP:0009115	Aplasia/hypoplasia involving the skeleton	4659	PPP1R12A	OMIM:618820
HP:0009115	Aplasia/hypoplasia involving the skeleton	285175	UNC80	ORPHA:371364
HP:0009115	Aplasia/hypoplasia involving the skeleton	8405	SPOP	OMIM:618829
HP:0009115	Aplasia/hypoplasia involving the skeleton	440	ASNS	OMIM:615574
HP:0009115	Aplasia/hypoplasia involving the skeleton	55023	PHIP	OMIM:617991
HP:0009115	Aplasia/hypoplasia involving the skeleton	3664	IRF6	ORPHA:1300
HP:0009115	Aplasia/hypoplasia involving the skeleton	8815	BANF1	OMIM:614008
HP:0009115	Aplasia/hypoplasia involving the skeleton	4848	CNOT2	OMIM:618608
HP:0009115	Aplasia/hypoplasia involving the skeleton	23529	CLCF1	ORPHA:1545
HP:0009115	Aplasia/hypoplasia involving the skeleton	221927	BRAT1	OMIM:614498
HP:0009115	Aplasia/hypoplasia involving the skeleton	5290	PIK3CA	OMIM:615108
HP:0009115	Aplasia/hypoplasia involving the skeleton	207	AKT1	OMIM:615109
HP:0009115	Aplasia/hypoplasia involving the skeleton	5604	MAP2K1	OMIM:163950
HP:0009115	Aplasia/hypoplasia involving the skeleton	579	NKX3-2	OMIM:613330
HP:0009115	Aplasia/hypoplasia involving the skeleton	255758	DYNLT2B	OMIM:617405
HP:0009115	Aplasia/hypoplasia involving the skeleton	3930	LBR	OMIM:215140
HP:0009115	Aplasia/hypoplasia involving the skeleton	6657	SOX2	ORPHA:77298
HP:0009115	Aplasia/hypoplasia involving the skeleton	6628	SNRPB	OMIM:117650
HP:0009115	Aplasia/hypoplasia involving the skeleton	65250	CPLANE1	OMIM:277170
HP:0009115	Aplasia/hypoplasia involving the skeleton	259232	NALCN	OMIM:616266
HP:0009115	Aplasia/hypoplasia involving the skeleton	650	BMP2	OMIM:617877
HP:0009115	Aplasia/hypoplasia involving the skeleton	100151683	RNU4ATAC	OMIM:210710
HP:0009115	Aplasia/hypoplasia involving the skeleton	1861	TOR1A	OMIM:618947
HP:0009115	Aplasia/hypoplasia involving the skeleton	55835	CENPJ	OMIM:613676
HP:0009115	Aplasia/hypoplasia involving the skeleton	5557	PRIM1	OMIM:620005
HP:0009115	Aplasia/hypoplasia involving the skeleton	22800	RRAS2	OMIM:618624
HP:0009115	Aplasia/hypoplasia involving the skeleton	1788	DNMT3A	OMIM:618724
HP:0009115	Aplasia/hypoplasia involving the skeleton	8854	ALDH1A2	OMIM:620025
HP:0009115	Aplasia/hypoplasia involving the skeleton	5590	PRKCZ	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	2563	GABRD	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	23013	SPEN	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	8510	MMP23B	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	7798	LUZP1	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	6497	SKI	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	10630	PDPN	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	3339	HSPG2	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	10277	UBE4B	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	8514	KCNAB2	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	473	RERE	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	63976	PRDM16	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	54897	CASZ1	ORPHA:1606
HP:0009115	Aplasia/hypoplasia involving the skeleton	526	ATP6V1B2	ORPHA:79500
HP:0009115	Aplasia/hypoplasia involving the skeleton	57465	TBC1D24	ORPHA:79500
HP:0009115	Aplasia/hypoplasia involving the skeleton	2317	FLNB	OMIM:108720
HP:0009115	Aplasia/hypoplasia involving the skeleton	6223	RPS19	OMIM:105650
HP:0009115	Aplasia/hypoplasia involving the skeleton	10236	HNRNPR	OMIM:620073
HP:0009115	Aplasia/hypoplasia involving the skeleton	222663	SCUBE3	OMIM:619184
HP:0009115	Aplasia/hypoplasia involving the skeleton	9469	CHST3	OMIM:245600
HP:0009115	Aplasia/hypoplasia involving the skeleton	26229	B3GAT3	OMIM:245600
HP:0009115	Aplasia/hypoplasia involving the skeleton	4927	NUP88	OMIM:618393
HP:0009115	Aplasia/hypoplasia involving the skeleton	10847	SRCAP	OMIM:136140
HP:0009115	Aplasia/hypoplasia involving the skeleton	10847	SRCAP	ORPHA:2044
HP:0009115	Aplasia/hypoplasia involving the skeleton	10013	HDAC6	OMIM:300863
HP:0009115	Aplasia/hypoplasia involving the skeleton	23114	NFASC	OMIM:618356
HP:0009115	Aplasia/hypoplasia involving the skeleton	11041	B4GAT1	OMIM:615287
HP:0009115	Aplasia/hypoplasia involving the skeleton	8942	KYNU	OMIM:617661
HP:0009115	Aplasia/hypoplasia involving the skeleton	545	ATR	OMIM:210600
HP:0009115	Aplasia/hypoplasia involving the skeleton	93627	TBCK	ORPHA:488632
HP:0009115	Aplasia/hypoplasia involving the skeleton	29980	DONSON	OMIM:617604
HP:0009115	Aplasia/hypoplasia involving the skeleton	22995	CEP152	OMIM:613823
HP:0009115	Aplasia/hypoplasia involving the skeleton	2879	GPX4	OMIM:250220
HP:0009115	Aplasia/hypoplasia involving the skeleton	126792	B3GALT6	OMIM:271640
HP:0009115	Aplasia/hypoplasia involving the skeleton	4784	NFIX	OMIM:602535
HP:0009115	Aplasia/hypoplasia involving the skeleton	57492	ARID1B	OMIM:135900
HP:0009115	Aplasia/hypoplasia involving the skeleton	25836	NIPBL	OMIM:122470
HP:0009115	Aplasia/hypoplasia involving the skeleton	79583	TMEM231	ORPHA:2752
HP:0009115	Aplasia/hypoplasia involving the skeleton	701	BUB1B	OMIM:257300
HP:0009115	Aplasia/hypoplasia involving the skeleton	9241	NOG	OMIM:186500
HP:0009115	Aplasia/hypoplasia involving the skeleton	4036	LRP2	OMIM:222448
HP:0009115	Aplasia/hypoplasia involving the skeleton	7703	PCGF2	OMIM:618371
HP:0009115	Aplasia/hypoplasia involving the skeleton	2719	GPC3	OMIM:312870
HP:0009115	Aplasia/hypoplasia involving the skeleton	2239	GPC4	OMIM:312870
HP:0009115	Aplasia/hypoplasia involving the skeleton	118924	FRA10AC1	OMIM:620113
HP:0009115	Aplasia/hypoplasia involving the skeleton	26040	SETBP1	OMIM:269150
HP:0009115	Aplasia/hypoplasia involving the skeleton	3911	LAMA5	OMIM:620076
HP:0009115	Aplasia/hypoplasia involving the skeleton	8241	RBM10	ORPHA:2886
HP:0009115	Aplasia/hypoplasia involving the skeleton	8241	RBM10	OMIM:311900
HP:0009115	Aplasia/hypoplasia involving the skeleton	54808	DYM	OMIM:223800
HP:0009115	Aplasia/hypoplasia involving the skeleton	54808	DYM	OMIM:607326
HP:0009115	Aplasia/hypoplasia involving the skeleton	9321	TRIP11	OMIM:200600
HP:0009115	Aplasia/hypoplasia involving the skeleton	340419	RSPO2	OMIM:618022
HP:0009115	Aplasia/hypoplasia involving the skeleton	50814	NSDHL	OMIM:308050
HP:0009115	Aplasia/hypoplasia involving the skeleton	2260	FGFR1	OMIM:166250
HP:0009115	Aplasia/hypoplasia involving the skeleton	1280	COL2A1	ORPHA:85166
HP:0009115	Aplasia/hypoplasia involving the skeleton	3636	INPPL1	ORPHA:3144
HP:0009115	Aplasia/hypoplasia involving the skeleton	23169	SLC35D1	ORPHA:3144
HP:0009115	Aplasia/hypoplasia involving the skeleton	23169	SLC35D1	OMIM:269250
HP:0009115	Aplasia/hypoplasia involving the skeleton	6913	TBX15	ORPHA:93333
HP:0009115	Aplasia/hypoplasia involving the skeleton	6913	TBX15	OMIM:260660
HP:0009115	Aplasia/hypoplasia involving the skeleton	145258	GSC	OMIM:602471
HP:0009115	Aplasia/hypoplasia involving the skeleton	5447	POR	ORPHA:95699
HP:0009115	Aplasia/hypoplasia involving the skeleton	9896	FIG4	OMIM:216340
HP:0009115	Aplasia/hypoplasia involving the skeleton	60	ACTB	ORPHA:79107
HP:0009115	Aplasia/hypoplasia involving the skeleton	60	ACTB	OMIM:607371
HP:0009115	Aplasia/hypoplasia involving the skeleton	57539	WDR35	OMIM:614091
HP:0009115	Aplasia/hypoplasia involving the skeleton	6926	TBX3	OMIM:181450
HP:0009115	Aplasia/hypoplasia involving the skeleton	860	RUNX2	OMIM:119600
HP:0009115	Aplasia/hypoplasia involving the skeleton	860	RUNX2	ORPHA:1452
HP:0009115	Aplasia/hypoplasia involving the skeleton	91179	SCARF2	OMIM:600920
HP:0009115	Aplasia/hypoplasia involving the skeleton	1301	COL11A1	OMIM:228520
HP:0009115	Aplasia/hypoplasia involving the skeleton	1301	COL11A1	ORPHA:2021
HP:0009115	Aplasia/hypoplasia involving the skeleton	1301	COL11A1	ORPHA:440354
HP:0009115	Aplasia/hypoplasia involving the skeleton	54101	RIPK4	OMIM:263650
HP:0009115	Aplasia/hypoplasia involving the skeleton	2316	FLNA	OMIM:309350
HP:0009115	Aplasia/hypoplasia involving the skeleton	6662	SOX9	OMIM:114290
HP:0009115	Aplasia/hypoplasia involving the skeleton	5116	PCNT	OMIM:210720
HP:0009115	Aplasia/hypoplasia involving the skeleton	1302	COL11A2	ORPHA:2021
HP:0009115	Aplasia/hypoplasia involving the skeleton	5696	PSMB8	OMIM:256040
HP:0009115	Aplasia/hypoplasia involving the skeleton	388015	RTL1	ORPHA:96334
HP:0009115	Aplasia/hypoplasia involving the skeleton	8788	DLK1	ORPHA:96334
HP:0009115	Aplasia/hypoplasia involving the skeleton	55384	MEG3	ORPHA:96334
HP:0009115	Aplasia/hypoplasia involving the skeleton	79158	GNPTAB	OMIM:252500
HP:0009115	Aplasia/hypoplasia involving the skeleton	4488	MSX2	ORPHA:60015
HP:0009115	Aplasia/hypoplasia involving the skeleton	4488	MSX2	OMIM:168550
HP:0009115	Aplasia/hypoplasia involving the skeleton	267010	RNU12	OMIM:603116
HP:0009115	Aplasia/hypoplasia involving the skeleton	9897	WASHC5	OMIM:220210
HP:0009115	Aplasia/hypoplasia involving the skeleton	9897	WASHC5	ORPHA:7
HP:0009115	Aplasia/hypoplasia involving the skeleton	10606	PAICS	OMIM:619859
HP:0009115	Aplasia/hypoplasia involving the skeleton	168667	BMPER	ORPHA:66637
HP:0009115	Aplasia/hypoplasia involving the skeleton	168667	BMPER	OMIM:608022
HP:0009115	Aplasia/hypoplasia involving the skeleton	7473	WNT3	ORPHA:3301
HP:0009115	Aplasia/hypoplasia involving the skeleton	5781	PTPN11	OMIM:151100
HP:0009115	Aplasia/hypoplasia involving the skeleton	4617	MYF5	OMIM:618155
HP:0009115	Aplasia/hypoplasia involving the skeleton	6911	TBX6	ORPHA:1797
HP:0009115	Aplasia/hypoplasia involving the skeleton	6911	TBX6	OMIM:122600
HP:0009115	Aplasia/hypoplasia involving the skeleton	84667	HES7	OMIM:613686
HP:0009115	Aplasia/hypoplasia involving the skeleton	157570	ESCO2	OMIM:268300
HP:0009115	Aplasia/hypoplasia involving the skeleton	9401	RECQL4	ORPHA:1225
HP:0009115	Aplasia/hypoplasia involving the skeleton	6154	RPL26	OMIM:614900
HP:0009115	Aplasia/hypoplasia involving the skeleton	1311	COMP	OMIM:177170
HP:0009115	Aplasia/hypoplasia involving the skeleton	3835	KIF22	OMIM:603546
HP:0009115	Aplasia/hypoplasia involving the skeleton	9451	EIF2AK3	OMIM:226980
HP:0009115	Aplasia/hypoplasia involving the skeleton	23233	EXOC6B	OMIM:618395
HP:0009115	Aplasia/hypoplasia involving the skeleton	54187	NANS	OMIM:610442
HP:0009115	Aplasia/hypoplasia involving the skeleton	5832	ALDH18A1	OMIM:601162
HP:0009115	Aplasia/hypoplasia involving the skeleton	23111	SPART	OMIM:275900
HP:0009115	Aplasia/hypoplasia involving the skeleton	26235	FBXL4	OMIM:615471
HP:0009115	Aplasia/hypoplasia involving the skeleton	5648	MASP1	OMIM:257920
HP:0009115	Aplasia/hypoplasia involving the skeleton	6792	CDKL5	ORPHA:3095
HP:0009115	Aplasia/hypoplasia involving the skeleton	6792	CDKL5	OMIM:300672
HP:0009115	Aplasia/hypoplasia involving the skeleton	22854	NTNG1	ORPHA:3095
HP:0009115	Aplasia/hypoplasia involving the skeleton	9568	GABBR2	ORPHA:3095
HP:0009115	Aplasia/hypoplasia involving the skeleton	9568	GABBR2	OMIM:617903
HP:0009115	Aplasia/hypoplasia involving the skeleton	4692	NDN	ORPHA:177904
HP:0009115	Aplasia/hypoplasia involving the skeleton	4692	NDN	ORPHA:177901
HP:0009115	Aplasia/hypoplasia involving the skeleton	4692	NDN	ORPHA:177910
HP:0009115	Aplasia/hypoplasia involving the skeleton	4692	NDN	ORPHA:98754
HP:0009115	Aplasia/hypoplasia involving the skeleton	4948	OCA2	ORPHA:177904
HP:0009115	Aplasia/hypoplasia involving the skeleton	4948	OCA2	ORPHA:177901
HP:0009115	Aplasia/hypoplasia involving the skeleton	4948	OCA2	ORPHA:98754
HP:0009115	Aplasia/hypoplasia involving the skeleton	2590	GALNT2	OMIM:618885
HP:0009115	Aplasia/hypoplasia involving the skeleton	80204	FBXO11	OMIM:618089
HP:0009115	Aplasia/hypoplasia involving the skeleton	3064	HTT	OMIM:617435
HP:0009115	Aplasia/hypoplasia involving the skeleton	84100	ARL6	OMIM:209900
HP:0009115	Aplasia/hypoplasia involving the skeleton	79140	CCDC28B	OMIM:209900
HP:0009115	Aplasia/hypoplasia involving the skeleton	582	BBS1	OMIM:209900
HP:0009115	Aplasia/hypoplasia involving the skeleton	6045	RNF2	OMIM:619460
HP:0009115	Aplasia/hypoplasia involving the skeleton	7319	UBE2A	OMIM:300860
HP:0009115	Aplasia/hypoplasia involving the skeleton	7319	UBE2A	ORPHA:163956
HP:0009115	Aplasia/hypoplasia involving the skeleton	10087	CERT1	OMIM:616351
HP:0009115	Aplasia/hypoplasia involving the skeleton	6304	SATB1	OMIM:619229
HP:0009115	Aplasia/hypoplasia involving the skeleton	7874	USP7	ORPHA:500055
HP:0009115	Aplasia/hypoplasia involving the skeleton	8493	PPM1D	OMIM:617450
HP:0009115	Aplasia/hypoplasia involving the skeleton	57003	CCDC47	OMIM:618268
HP:0009115	Aplasia/hypoplasia involving the skeleton	8239	USP9X	ORPHA:480880
HP:0009115	Aplasia/hypoplasia involving the skeleton	8239	USP9X	OMIM:300968
HP:0009115	Aplasia/hypoplasia involving the skeleton	9894	TELO2	ORPHA:488642
HP:0009115	Aplasia/hypoplasia involving the skeleton	8364	H4C3	OMIM:619758
HP:0009115	Aplasia/hypoplasia involving the skeleton	3800	KIF5C	OMIM:615282
HP:0009115	Aplasia/hypoplasia involving the skeleton	2332	FMR1	ORPHA:261483
HP:0009115	Aplasia/hypoplasia involving the skeleton	9130	FAM50A	OMIM:300261
HP:0009115	Aplasia/hypoplasia involving the skeleton	242	ALOX12B	OMIM:242100
HP:0009115	Aplasia/hypoplasia involving the skeleton	59344	ALOXE3	OMIM:242100
HP:0009115	Aplasia/hypoplasia involving the skeleton	7840	ALMS1	ORPHA:64
HP:0009115	Aplasia/hypoplasia involving the skeleton	4882	NPR2	OMIM:602875
HP:0009115	Aplasia/hypoplasia involving the skeleton	3981	LIG4	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	5896	RAG1	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	5897	RAG2	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	64421	DCLRE1C	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	100	ADA	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	3575	IL7R	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	3561	IL2RG	ORPHA:39041
HP:0009115	Aplasia/hypoplasia involving the skeleton	6473	SHOX	OMIM:127300
HP:0009115	Aplasia/hypoplasia involving the skeleton	1859	DYRK1A	ORPHA:464311
HP:0009115	Aplasia/hypoplasia involving the skeleton	55027	HEATR3	OMIM:620072
HP:0009115	Aplasia/hypoplasia involving the skeleton	79718	TBL1XR1	OMIM:602342
HP:0009115	Aplasia/hypoplasia involving the skeleton	79718	TBL1XR1	ORPHA:487825
HP:0009115	Aplasia/hypoplasia involving the skeleton	4089	SMAD4	OMIM:139210
HP:0009115	Aplasia/hypoplasia involving the skeleton	54928	BPNT2	OMIM:614078
HP:0009115	Aplasia/hypoplasia involving the skeleton	23426	GRIP1	OMIM:617667
HP:0009115	Aplasia/hypoplasia involving the skeleton	25782	RAB3GAP2	OMIM:212720
HP:0009115	Aplasia/hypoplasia involving the skeleton	23384	SPECC1L	ORPHA:1519
HP:0009115	Aplasia/hypoplasia involving the skeleton	55650	PIGV	OMIM:239300
HP:0009115	Aplasia/hypoplasia involving the skeleton	427	ASAH1	ORPHA:333
HP:0009115	Aplasia/hypoplasia involving the skeleton	3039	HBA1	ORPHA:98791
HP:0009115	Aplasia/hypoplasia involving the skeleton	3040	HBA2	ORPHA:98791
HP:0009115	Aplasia/hypoplasia involving the skeleton	84295	PHF6	OMIM:301900
HP:0009115	Aplasia/hypoplasia involving the skeleton	84295	PHF6	ORPHA:127
HP:0009115	Aplasia/hypoplasia involving the skeleton	23483	TGDS	OMIM:616145
HP:0009115	Aplasia/hypoplasia involving the skeleton	8481	OFD1	ORPHA:2750
HP:0009115	Aplasia/hypoplasia involving the skeleton	50945	TBX22	ORPHA:921
HP:0009115	Aplasia/hypoplasia involving the skeleton	171023	ASXL1	OMIM:605039
HP:0009115	Aplasia/hypoplasia involving the skeleton	9509	ADAMTS2	OMIM:225410
HP:0009115	Aplasia/hypoplasia involving the skeleton	375056	MIA3	OMIM:619269
HP:0009115	Aplasia/hypoplasia involving the skeleton	57178	ZMIZ1	OMIM:618659
HP:0009115	Aplasia/hypoplasia involving the skeleton	2697	GJA1	ORPHA:93404
HP:0009115	Aplasia/hypoplasia involving the skeleton	4853	NOTCH2	ORPHA:955
HP:0009115	Aplasia/hypoplasia involving the skeleton	2313	FLI1	ORPHA:2308
HP:0009115	Aplasia/hypoplasia involving the skeleton	2778	GNAS	OMIM:103580
HP:0009115	Aplasia/hypoplasia involving the skeleton	2690	GHR	ORPHA:633
HP:0009115	Aplasia/hypoplasia involving the skeleton	64840	PORCN	OMIM:305600
HP:0009115	Aplasia/hypoplasia involving the skeleton	7480	WNT10B	OMIM:225300
HP:0009115	Aplasia/hypoplasia involving the skeleton	10262	SF3B4	OMIM:154400
HP:0009115	Aplasia/hypoplasia involving the skeleton	7476	WNT7A	OMIM:228930
HP:0009115	Aplasia/hypoplasia involving the skeleton	7476	WNT7A	ORPHA:2879
HP:0009115	Aplasia/hypoplasia involving the skeleton	7476	WNT7A	OMIM:276820
HP:0009115	Aplasia/hypoplasia involving the skeleton	54567	DLL4	OMIM:616589
HP:0009115	Aplasia/hypoplasia involving the skeleton	64093	SMOC1	OMIM:206920
HP:0009115	Aplasia/hypoplasia involving the skeleton	64093	SMOC1	ORPHA:1106
HP:0009115	Aplasia/hypoplasia involving the skeleton	1749	DLX5	OMIM:183600
HP:0009115	Aplasia/hypoplasia involving the skeleton	4038	LRP4	ORPHA:3258
HP:0009115	Aplasia/hypoplasia involving the skeleton	324	APC	ORPHA:3258
HP:0009115	Aplasia/hypoplasia involving the skeleton	2737	GLI3	ORPHA:93322
HP:0009115	Aplasia/hypoplasia involving the skeleton	59341	TRPV4	OMIM:606835
HP:0009115	Aplasia/hypoplasia involving the skeleton	5281	PIGF	OMIM:619356
HP:0009115	Aplasia/hypoplasia involving the skeleton	415	ARSL	ORPHA:79345
HP:0009115	Aplasia/hypoplasia involving the skeleton	3756	KCNH1	OMIM:135500
HP:0009115	Aplasia/hypoplasia involving the skeleton	8626	TP63	OMIM:605289
HP:0009115	Aplasia/hypoplasia involving the skeleton	27019	DNAI1	OMIM:244400
HP:0009115	Aplasia/hypoplasia involving the skeleton	4591	TRIM37	OMIM:253250
HP:0009115	Aplasia/hypoplasia involving the skeleton	546	ATRX	OMIM:301040
HP:0009115	Aplasia/hypoplasia involving the skeleton	6424	SFRP4	OMIM:265900
HP:0009115	Aplasia/hypoplasia involving the skeleton	257	ALX3	OMIM:136760
HP:0009115	Aplasia/hypoplasia involving the skeleton	257	ALX3	ORPHA:391474
HP:0009115	Aplasia/hypoplasia involving the skeleton	175	AGA	OMIM:208400
HP:0009115	Aplasia/hypoplasia involving the skeleton	28981	IFT81	OMIM:617895
HP:0009115	Aplasia/hypoplasia involving the skeleton	9820	CUL7	ORPHA:2616
HP:0009115	Aplasia/hypoplasia involving the skeleton	23363	OBSL1	ORPHA:2616
HP:0009115	Aplasia/hypoplasia involving the skeleton	83987	CCDC8	ORPHA:2616
HP:0009115	Aplasia/hypoplasia involving the skeleton	55790	CSGALNACT1	OMIM:618870
HP:0009115	Aplasia/hypoplasia involving the skeleton	3418	IDH2	ORPHA:296
HP:0009115	Aplasia/hypoplasia involving the skeleton	3417	IDH1	ORPHA:296
HP:0009115	Aplasia/hypoplasia involving the skeleton	2752	GLUL	OMIM:610015
HP:0009115	Aplasia/hypoplasia involving the skeleton	26160	IFT172	ORPHA:474
HP:0009115	Aplasia/hypoplasia involving the skeleton	79809	TTC21B	ORPHA:474
HP:0009115	Aplasia/hypoplasia involving the skeleton	51594	NBAS	OMIM:614800
HP:0009115	Aplasia/hypoplasia involving the skeleton	51025	PAM16	OMIM:613320
HP:0009115	Aplasia/hypoplasia involving the skeleton	92002	CCNQ	ORPHA:140952
HP:0009115	Aplasia/hypoplasia involving the skeleton	567	B2M	OMIM:241600
HP:0009115	Aplasia/hypoplasia involving the skeleton	4233	MET	OMIM:607278
HP:0009115	Aplasia/hypoplasia involving the skeleton	10804	GJB6	ORPHA:477
HP:0009115	Aplasia/hypoplasia involving the skeleton	2706	GJB2	ORPHA:477
HP:0009115	Aplasia/hypoplasia involving the skeleton	4010	LMX1B	ORPHA:2614
HP:0009115	Aplasia/hypoplasia involving the skeleton	4010	LMX1B	OMIM:161200
HP:0009115	Aplasia/hypoplasia involving the skeleton	4010	LMX1B	ORPHA:495818
HP:0009115	Aplasia/hypoplasia involving the skeleton	55148	UBR7	OMIM:619189
HP:0009115	Aplasia/hypoplasia involving the skeleton	6812	STXBP1	ORPHA:495818
HP:0009115	Aplasia/hypoplasia involving the skeleton	5879	RAC1	ORPHA:500159
HP:0009115	Aplasia/hypoplasia involving the skeleton	55768	NGLY1	ORPHA:404454
HP:0009115	Aplasia/hypoplasia involving the skeleton	9949	AMMECR1	OMIM:300990
HP:0009115	Aplasia/hypoplasia involving the skeleton	10588	MTHFS	OMIM:618367
HP:0009115	Aplasia/hypoplasia involving the skeleton	55503	TRPV6	OMIM:618188
HP:0009115	Aplasia/hypoplasia involving the skeleton	815	CAMK2A	OMIM:617798
HP:0009115	Aplasia/hypoplasia involving the skeleton	9496	TBX4	OMIM:147891
HP:0009115	Aplasia/hypoplasia involving the skeleton	8802	SUCLG1	ORPHA:17
HP:0009115	Aplasia/hypoplasia involving the skeleton	202018	TAPT1	OMIM:616897
HP:0009115	Aplasia/hypoplasia involving the skeleton	2335	FN1	OMIM:184255
HP:0009115	Aplasia/hypoplasia involving the skeleton	2137	EXTL3	ORPHA:508533
HP:0009115	Aplasia/hypoplasia involving the skeleton	9361	LONP1	OMIM:600373
HP:0009115	Aplasia/hypoplasia involving the skeleton	4921	DDR2	OMIM:271665
HP:0009115	Aplasia/hypoplasia involving the skeleton	6399	TRAPPC2	ORPHA:93284
HP:0009115	Aplasia/hypoplasia involving the skeleton	2245	FGD1	OMIM:305400
HP:0009115	Aplasia/hypoplasia involving the skeleton	9131	AIFM1	OMIM:300232
HP:0009115	Aplasia/hypoplasia involving the skeleton	55699	IARS2	OMIM:616007
HP:0009115	Aplasia/hypoplasia involving the skeleton	2588	GALNS	OMIM:253000
HP:0009115	Aplasia/hypoplasia involving the skeleton	2990	GUSB	OMIM:253220
HP:0009115	Aplasia/hypoplasia involving the skeleton	411	ARSB	OMIM:253200
HP:0009115	Aplasia/hypoplasia involving the skeleton	25839	COG4	OMIM:618150
HP:0009115	Aplasia/hypoplasia involving the skeleton	25839	COG4	ORPHA:85172
HP:0009115	Aplasia/hypoplasia involving the skeleton	3955	LFNG	OMIM:609813
HP:0009115	Aplasia/hypoplasia involving the skeleton	633	BGN	OMIM:300106
HP:0009115	Aplasia/hypoplasia involving the skeleton	83452	RAB33B	OMIM:615222
HP:0009115	Aplasia/hypoplasia involving the skeleton	5332	PLCB4	OMIM:614669
HP:0009115	Aplasia/hypoplasia involving the skeleton	3166	HMX1	OMIM:612109
HP:0009115	Aplasia/hypoplasia involving the skeleton	2263	FGFR2	OMIM:101600
HP:0009115	Aplasia/hypoplasia involving the skeleton	8517	IKBKG	ORPHA:464
HP:0009115	Aplasia/hypoplasia involving the skeleton	1750	DLX6	ORPHA:2440
HP:0009115	Aplasia/hypoplasia involving the skeleton	7979	SEM1	ORPHA:2440
HP:0009115	Aplasia/hypoplasia involving the skeleton	8945	BTRC	ORPHA:2440
HP:0009115	Aplasia/hypoplasia involving the skeleton	58513	EPS15L1	ORPHA:2440
HP:0009115	Aplasia/hypoplasia involving the skeleton	6468	FBXW4	ORPHA:2440
HP:0009115	Aplasia/hypoplasia involving the skeleton	7021	TFAP2B	ORPHA:46627
HP:0009115	Aplasia/hypoplasia involving the skeleton	3480	IGF1R	ORPHA:73273
HP:0009115	Aplasia/hypoplasia involving the skeleton	124997	WDR81	OMIM:610185
HP:0009115	Aplasia/hypoplasia involving the skeleton	118429	ANTXR2	ORPHA:2176
HP:0009115	Aplasia/hypoplasia involving the skeleton	7681	MKRN3	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	3653	IPW	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	54551	MAGEL2	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	791114	PWRN1	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	100033413	SNORD116-1	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	8924	HERC2	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	145624	PWAR1	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	23742	NPAP1	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	338433	SNORD115-1	OMIM:176270
HP:0009115	Aplasia/hypoplasia involving the skeleton	55112	DYNC2I1	ORPHA:93271
HP:0009115	Aplasia/hypoplasia involving the skeleton	89891	DYNC2I2	ORPHA:93271
HP:0009115	Aplasia/hypoplasia involving the skeleton	23030	KDM4B	OMIM:619320
HP:0009115	Aplasia/hypoplasia involving the skeleton	79639	TMEM53	OMIM:619727
HP:0009115	Aplasia/hypoplasia involving the skeleton	55249	YY1AP1	ORPHA:79094
HP:0009115	Aplasia/hypoplasia involving the skeleton	10982	MAPRE2	OMIM:616734
HP:0009115	Aplasia/hypoplasia involving the skeleton	818	CAMK2G	OMIM:618522
HP:0009115	Aplasia/hypoplasia involving the skeleton	1778	DYNC1H1	OMIM:614563
HP:0009115	Aplasia/hypoplasia involving the skeleton	80311	KLHL15	OMIM:300982
HP:0009115	Aplasia/hypoplasia involving the skeleton	10943	MSL3	OMIM:301032
HP:0009115	Aplasia/hypoplasia involving the skeleton	55012	PPP2R3C	OMIM:618419
HP:0009115	Aplasia/hypoplasia involving the skeleton	51763	INPP5K	ORPHA:559
HP:0009115	Aplasia/hypoplasia involving the skeleton	9244	CRLF1	OMIM:272430
HP:0009115	Aplasia/hypoplasia involving the skeleton	2254	FGF9	ORPHA:3237
HP:0009115	Aplasia/hypoplasia involving the skeleton	6905	TBCE	OMIM:241410
HP:0009115	Aplasia/hypoplasia involving the skeleton	6905	TBCE	OMIM:244460
HP:0009115	Aplasia/hypoplasia involving the skeleton	1857	DVL3	ORPHA:3107
HP:0009115	Aplasia/hypoplasia involving the skeleton	9791	PTDSS1	ORPHA:2658
HP:0009115	Aplasia/hypoplasia involving the skeleton	79753	SNIP1	OMIM:614501
HP:0009115	Aplasia/hypoplasia involving the skeleton	285590	SH3PXD2B	OMIM:249420
HP:0009115	Aplasia/hypoplasia involving the skeleton	23522	KAT6B	ORPHA:85201
HP:0009115	Aplasia/hypoplasia involving the skeleton	3845	KRAS	ORPHA:3339
HP:0009115	Aplasia/hypoplasia involving the skeleton	28957	MRPS28	OMIM:618958
HP:0009115	Aplasia/hypoplasia involving the skeleton	23261	CAMTA1	OMIM:614756
HP:0009115	Aplasia/hypoplasia involving the skeleton	8450	CUL4B	ORPHA:85293
HP:0009115	Aplasia/hypoplasia involving the skeleton	5295	PIK3R1	ORPHA:3163
HP:0009115	Aplasia/hypoplasia involving the skeleton	10743	RAI1	OMIM:182290
HP:0009115	Aplasia/hypoplasia involving the skeleton	51322	WAC	ORPHA:466950
HP:0009115	Aplasia/hypoplasia involving the skeleton	147372	CCBE1	OMIM:235510
HP:0009115	Aplasia/hypoplasia involving the skeleton	29123	ANKRD11	OMIM:148050
HP:0009115	Aplasia/hypoplasia involving the skeleton	3094	HINT1	ORPHA:324442
HP:0009115	Aplasia/hypoplasia involving the skeleton	9759	HDAC4	OMIM:600430
HP:0009115	Aplasia/hypoplasia involving the skeleton	9578	CDC42BPB	OMIM:619841
HP:0009115	Aplasia/hypoplasia involving the skeleton	5191	PEX7	OMIM:266500
HP:0009115	Aplasia/hypoplasia involving the skeleton	5264	PHYH	OMIM:266500
HP:0009115	Aplasia/hypoplasia involving the skeleton	94005	PIGS	OMIM:618143
HP:0009115	Aplasia/hypoplasia involving the skeleton	341208	HEPHL1	OMIM:261990
HP:0009115	Aplasia/hypoplasia involving the skeleton	89970	RSPRY1	ORPHA:457395
HP:0009115	Aplasia/hypoplasia involving the skeleton	89970	RSPRY1	OMIM:616723
HP:0009115	Aplasia/hypoplasia involving the skeleton	54585	LZTFL1	OMIM:615994
HP:0009115	Aplasia/hypoplasia involving the skeleton	55628	ZNF407	OMIM:619557
HP:0009115	Aplasia/hypoplasia involving the skeleton	2146	EZH2	OMIM:277590
HP:0009115	Aplasia/hypoplasia involving the skeleton	79633	FAT4	OMIM:615546
HP:0009115	Aplasia/hypoplasia involving the skeleton	8642	DCHS1	OMIM:601390
HP:0009115	Aplasia/hypoplasia involving the skeleton	54496	PRMT7	ORPHA:464288
HP:0009115	Aplasia/hypoplasia involving the skeleton	6925	TCF4	OMIM:610954
HP:0009115	Aplasia/hypoplasia involving the skeleton	23288	IQCE	OMIM:617642
HP:0009115	Aplasia/hypoplasia involving the skeleton	10736	SIX2	ORPHA:488437
HP:0009115	Aplasia/hypoplasia involving the skeleton	374969	SVBP	OMIM:618569
HP:0009115	Aplasia/hypoplasia involving the skeleton	1327	COX4I1	OMIM:619060
HP:0009115	Aplasia/hypoplasia involving the skeleton	8936	WASF1	OMIM:618707
HP:0009115	Aplasia/hypoplasia involving the skeleton	4920	ROR2	OMIM:268310
HP:0009115	Aplasia/hypoplasia involving the skeleton	7355	SLC35A2	ORPHA:356961
HP:0009115	Aplasia/hypoplasia involving the skeleton	3977	LIFR	OMIM:601559
HP:0009115	Aplasia/hypoplasia involving the skeleton	9775	EIF4A3	OMIM:268305
HP:0009115	Aplasia/hypoplasia involving the skeleton	4750	NEK1	OMIM:263520
HP:0009115	Aplasia/hypoplasia involving the skeleton	727857	BHLHA9	ORPHA:3329
HP:0009115	Aplasia/hypoplasia involving the skeleton	727857	BHLHA9	ORPHA:1986
HP:0009115	Aplasia/hypoplasia involving the skeleton	57688	ZSWIM6	ORPHA:1827
HP:0009115	Aplasia/hypoplasia involving the skeleton	64327	LMBR1	ORPHA:988
HP:0009115	Aplasia/hypoplasia involving the skeleton	6469	SHH	ORPHA:988
HP:0009115	Aplasia/hypoplasia involving the skeleton	26123	TCTN3	ORPHA:2753
HP:0009115	Aplasia/hypoplasia involving the skeleton	4982	TNFRSF11B	OMIM:239000
HP:0009115	Aplasia/hypoplasia involving the skeleton	55777	MBD5	OMIM:156200
HP:0009115	Aplasia/hypoplasia involving the skeleton	5422	POLA1	OMIM:301030
HP:0009115	Aplasia/hypoplasia involving the skeleton	652	BMP4	OMIM:607932
HP:0009115	Aplasia/hypoplasia involving the skeleton	8085	KMT2D	ORPHA:2322
HP:0009115	Aplasia/hypoplasia involving the skeleton	7403	KDM6A	ORPHA:2322
HP:0009115	Aplasia/hypoplasia involving the skeleton	51053	GMNN	OMIM:616835
HP:0009115	Aplasia/hypoplasia involving the skeleton	84992	PIGY	ORPHA:247262
HP:0009115	Aplasia/hypoplasia involving the skeleton	84992	PIGY	OMIM:616809
HP:0009115	Aplasia/hypoplasia involving the skeleton	84720	PIGO	ORPHA:247262
HP:0009115	Aplasia/hypoplasia involving the skeleton	84720	PIGO	OMIM:614749
HP:0009115	Aplasia/hypoplasia involving the skeleton	93210	PGAP3	ORPHA:247262
HP:0009115	Aplasia/hypoplasia involving the skeleton	93210	PGAP3	OMIM:615716
HP:0009115	Aplasia/hypoplasia involving the skeleton	284098	PIGW	ORPHA:247262
HP:0009115	Aplasia/hypoplasia involving the skeleton	27315	PGAP2	ORPHA:247262
HP:0009115	Aplasia/hypoplasia involving the skeleton	27315	PGAP2	OMIM:614207
HP:0009115	Aplasia/hypoplasia involving the skeleton	57020	VPS35L	OMIM:619135
HP:0009115	Aplasia/hypoplasia involving the skeleton	2972	BRF1	OMIM:616202
HP:0009115	Aplasia/hypoplasia involving the skeleton	29929	ALG6	ORPHA:79320
HP:0009115	Aplasia/hypoplasia involving the skeleton	9719	ADAMTSL2	OMIM:231050
HP:0009115	Aplasia/hypoplasia involving the skeleton	3549	IHH	OMIM:112500
HP:0009115	Aplasia/hypoplasia involving the skeleton	23556	PIGN	ORPHA:280633
HP:0009115	Aplasia/hypoplasia involving the skeleton	219844	HYLS1	OMIM:236680
HP:0009115	Aplasia/hypoplasia involving the skeleton	2131	EXT1	ORPHA:321
HP:0009115	Aplasia/hypoplasia involving the skeleton	2132	EXT2	ORPHA:321
HP:0009115	Aplasia/hypoplasia involving the skeleton	249	ALPL	OMIM:241500
HP:0009115	Aplasia/hypoplasia involving the skeleton	23394	ADNP	OMIM:615873
HP:0009115	Aplasia/hypoplasia involving the skeleton	5479	PPIB	OMIM:259440
HP:0009115	Aplasia/hypoplasia involving the skeleton	2767	GNA11	ORPHA:1556
HP:0009115	Aplasia/hypoplasia involving the skeleton	151188	ARL6IP6	ORPHA:1556
HP:0009115	Aplasia/hypoplasia involving the skeleton	1146	CHRNG	OMIM:265000
HP:0009115	Aplasia/hypoplasia involving the skeleton	81620	CDT1	ORPHA:2554
HP:0009115	Aplasia/hypoplasia involving the skeleton	81620	CDT1	OMIM:613804
HP:0009115	Aplasia/hypoplasia involving the skeleton	5000	ORC4	ORPHA:2554
HP:0009115	Aplasia/hypoplasia involving the skeleton	5000	ORC4	OMIM:613800
HP:0009115	Aplasia/hypoplasia involving the skeleton	990	CDC6	ORPHA:2554
HP:0009115	Aplasia/hypoplasia involving the skeleton	990	CDC6	OMIM:613805
HP:0009115	Aplasia/hypoplasia involving the skeleton	8318	CDC45	OMIM:617063
HP:0009115	Aplasia/hypoplasia involving the skeleton	5980	REV3L	ORPHA:570
HP:0009115	Aplasia/hypoplasia involving the skeleton	23129	PLXND1	ORPHA:570
HP:0009115	Aplasia/hypoplasia involving the skeleton	4318	MMP9	ORPHA:1040
HP:0009115	Aplasia/hypoplasia involving the skeleton	4322	MMP13	ORPHA:1040
HP:0009115	Aplasia/hypoplasia involving the skeleton	6910	TBX5	ORPHA:392
HP:0009115	Aplasia/hypoplasia involving the skeleton	7140	TNNT3	ORPHA:1147
HP:0009115	Aplasia/hypoplasia involving the skeleton	4621	MYH3	ORPHA:1147
HP:0009115	Aplasia/hypoplasia involving the skeleton	7169	TPM2	ORPHA:1147
HP:0009115	Aplasia/hypoplasia involving the skeleton	7136	TNNI2	ORPHA:1147
HP:0009115	Aplasia/hypoplasia involving the skeleton	672	BRCA1	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	10459	MAD2L2	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	7516	XRCC2	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	29089	UBE2T	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	675	BRCA2	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	55120	FANCL	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2177	FANCD2	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2175	FANCA	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2187	FANCB	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2176	FANCC	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2178	FANCE	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2188	FANCF	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2189	FANCG	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	5888	RAD51	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	5889	RAD51C	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	55159	RFWD3	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	83990	BRIP1	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	57697	FANCM	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	79728	PALB2	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	84464	SLX4	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	2072	ERCC4	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	55215	FANCI	ORPHA:84
HP:0009115	Aplasia/hypoplasia involving the skeleton	7040	TGFB1	ORPHA:1328
HP:0009115	Aplasia/hypoplasia involving the skeleton	60681	FKBP10	ORPHA:1149
HP:0009115	Aplasia/hypoplasia involving the skeleton	9555	MACROH2A1	ORPHA:1275
HP:0009115	Aplasia/hypoplasia involving the skeleton	5307	PITX1	ORPHA:1275
HP:0009115	Aplasia/hypoplasia involving the skeleton	57167	SALL4	ORPHA:959
HP:0009115	Aplasia/hypoplasia involving the skeleton	1717	DHCR7	ORPHA:818
HP:0009115	Aplasia/hypoplasia involving the skeleton	538	ATP7A	ORPHA:198
HP:0009115	Aplasia/hypoplasia involving the skeleton	9939	RBM8A	ORPHA:3320
HP:0009115	Aplasia/hypoplasia involving the skeleton	9939	RBM8A	OMIM:274000
HP:0009115	Aplasia/hypoplasia involving the skeleton	1947	EFNB1	ORPHA:1520
HP:0009115	Aplasia/hypoplasia involving the skeleton	1947	EFNB1	OMIM:304110
HP:0009115	Aplasia/hypoplasia involving the skeleton	5728	PTEN	ORPHA:79076
HP:0009115	Aplasia/hypoplasia involving the skeleton	657	BMPR1A	ORPHA:79076
HP:0009115	Aplasia/hypoplasia involving the skeleton	55697	VAC14	ORPHA:3472
HP:0009115	Aplasia/hypoplasia involving the skeleton	23594	ORC6	OMIM:613803
HP:0009115	Aplasia/hypoplasia involving the skeleton	4998	ORC1	OMIM:224690
HP:0009115	Aplasia/hypoplasia involving the skeleton	4000	LMNA	ORPHA:1662
HP:0009115	Aplasia/hypoplasia involving the skeleton	4000	LMNA	ORPHA:90153
HP:0009115	Aplasia/hypoplasia involving the skeleton	10269	ZMPSTE24	ORPHA:1662
HP:0009115	Aplasia/hypoplasia involving the skeleton	10269	ZMPSTE24	ORPHA:90154
HP:0009115	Aplasia/hypoplasia involving the skeleton	10651	MTX2	ORPHA:90153
HP:0009115	Aplasia/hypoplasia involving the skeleton	79848	CSPP1	ORPHA:397715
HP:0009115	Aplasia/hypoplasia involving the skeleton	9786	KIAA0586	ORPHA:397715
HP:0009115	Aplasia/hypoplasia involving the skeleton	22827	PUF60	ORPHA:508498
HP:0009115	Aplasia/hypoplasia involving the skeleton	55780	ERMARD	ORPHA:75857
HP:0009115	Aplasia/hypoplasia involving the skeleton	80144	FRAS1	OMIM:219000
HP:0009115	Aplasia/hypoplasia involving the skeleton	23347	SMCHD1	OMIM:603457
HP:0009115	Aplasia/hypoplasia involving the skeleton	4990	SIX6	OMIM:206900
HP:0009115	Aplasia/hypoplasia involving the skeleton	10992	SF3B2	OMIM:164210
HP:0009115	Aplasia/hypoplasia involving the skeleton	347734	SLC35B2	OMIM:620269
HP:0009115	Aplasia/hypoplasia involving the skeleton	23126	POGZ	OMIM:616364
HP:0009115	Aplasia/hypoplasia involving the skeleton	2517	FUCA1	OMIM:230000
HP:0009115	Aplasia/hypoplasia involving the skeleton	1182	CLCN3	OMIM:619512
HP:0009115	Aplasia/hypoplasia involving the skeleton	65992	DDRGK1	OMIM:602557
HP:0009115	Aplasia/hypoplasia involving the skeleton	65992	DDRGK1	ORPHA:93352
HP:0009115	Aplasia/hypoplasia involving the skeleton	5573	PRKAR1A	ORPHA:280651
HP:0009115	Aplasia/hypoplasia involving the skeleton	5573	PRKAR1A	OMIM:101800
HP:0009115	Aplasia/hypoplasia involving the skeleton	5144	PDE4D	ORPHA:280651
HP:0009115	Aplasia/hypoplasia involving the skeleton	60561	RINT1	OMIM:618641
HP:0009115	Aplasia/hypoplasia involving the skeleton	2720	GLB1	OMIM:230500
HP:0009115	Aplasia/hypoplasia involving the skeleton	2720	GLB1	OMIM:230600
HP:0009115	Aplasia/hypoplasia involving the skeleton	2720	GLB1	ORPHA:79255
HP:0009115	Aplasia/hypoplasia involving the skeleton	10312	TCIRG1	ORPHA:1782
HP:0009115	Aplasia/hypoplasia involving the skeleton	55315	SLC29A3	ORPHA:1782
HP:0009115	Aplasia/hypoplasia involving the skeleton	8792	TNFRSF11A	ORPHA:1782
HP:0009115	Aplasia/hypoplasia involving the skeleton	2799	GNS	OMIM:252940
HP:0009115	Aplasia/hypoplasia involving the skeleton	11128	POLR3A	ORPHA:3455
HP:0009115	Aplasia/hypoplasia involving the skeleton	285362	SUMF1	OMIM:272200
HP:0009115	Aplasia/hypoplasia involving the skeleton	3459	IFNGR1	OMIM:209950
HP:0009115	Aplasia/hypoplasia involving the skeleton	1836	SLC26A2	OMIM:226900
HP:0009115	Aplasia/hypoplasia involving the skeleton	3425	IDUA	OMIM:607014
HP:0009115	Aplasia/hypoplasia involving the skeleton	10940	POP1	OMIM:617396
HP:0009115	Aplasia/hypoplasia involving the skeleton	26146	TRAF3IP1	OMIM:616629
HP:0009115	Aplasia/hypoplasia involving the skeleton	1718	DHCR24	OMIM:602398
HP:0009115	Aplasia/hypoplasia involving the skeleton	145173	B3GLCT	ORPHA:709
HP:0009115	Aplasia/hypoplasia involving the skeleton	145173	B3GLCT	OMIM:261540
HP:0009115	Aplasia/hypoplasia involving the skeleton	10586	MAB21L2	OMIM:615877
HP:0009115	Aplasia/hypoplasia involving the skeleton	755	CFAP410	OMIM:602271
HP:0009115	Aplasia/hypoplasia involving the skeleton	8540	AGPS	OMIM:600121
HP:0009115	Aplasia/hypoplasia involving the skeleton	8443	GNPAT	OMIM:222765
HP:0009115	Aplasia/hypoplasia involving the skeleton	114803	MYSM1	OMIM:618116
HP:0009115	Aplasia/hypoplasia involving the skeleton	176	ACAN	OMIM:612813
HP:0009115	Aplasia/hypoplasia involving the skeleton	176	ACAN	ORPHA:171866
HP:0009115	Aplasia/hypoplasia involving the skeleton	112752	IFT43	ORPHA:1515
HP:0009115	Aplasia/hypoplasia involving the skeleton	112752	IFT43	OMIM:614099
HP:0009115	Aplasia/hypoplasia involving the skeleton	51098	IFT52	ORPHA:1515
HP:0009115	Aplasia/hypoplasia involving the skeleton	55764	IFT122	ORPHA:1515
HP:0009115	Aplasia/hypoplasia involving the skeleton	55764	IFT122	OMIM:218330
HP:0009115	Aplasia/hypoplasia involving the skeleton	57728	WDR19	ORPHA:1515
HP:0009115	Aplasia/hypoplasia involving the skeleton	57728	WDR19	OMIM:614376
HP:0009115	Aplasia/hypoplasia involving the skeleton	9382	COG1	OMIM:611209
HP:0009115	Aplasia/hypoplasia involving the skeleton	9382	COG1	ORPHA:263508
HP:0009115	Aplasia/hypoplasia involving the skeleton	6023	RMRP	ORPHA:175
HP:0009115	Aplasia/hypoplasia involving the skeleton	6023	RMRP	OMIM:607095
HP:0009115	Aplasia/hypoplasia involving the skeleton	10082	GPC6	OMIM:258315
HP:0009115	Aplasia/hypoplasia involving the skeleton	10082	GPC6	ORPHA:93329
HP:0009115	Aplasia/hypoplasia involving the skeleton	90993	CREB3L1	OMIM:616229
HP:0009115	Aplasia/hypoplasia involving the skeleton	79087	ALG12	OMIM:607143
HP:0009115	Aplasia/hypoplasia involving the skeleton	2261	FGFR3	ORPHA:15
HP:0009115	Aplasia/hypoplasia involving the skeleton	2261	FGFR3	OMIM:616482
HP:0009115	Aplasia/hypoplasia involving the skeleton	2261	FGFR3	OMIM:100800
HP:0009115	Aplasia/hypoplasia involving the skeleton	372	ARCN1	OMIM:617164
HP:0009115	Aplasia/hypoplasia involving the skeleton	5745	PTH1R	ORPHA:50945
HP:0009115	Aplasia/hypoplasia involving the skeleton	4297	KMT2A	ORPHA:319182
HP:0009115	Aplasia/hypoplasia involving the skeleton	2475	MTOR	OMIM:616638
HP:0009115	Aplasia/hypoplasia involving the skeleton	5593	PRKG2	OMIM:619638
HP:0009115	Aplasia/hypoplasia involving the skeleton	5593	PRKG2	OMIM:619636
HP:0009115	Aplasia/hypoplasia involving the skeleton	91461	PKDCC	OMIM:618821
HP:0009115	Aplasia/hypoplasia involving the skeleton	4796	TONSL	ORPHA:93357
HP:0009115	Aplasia/hypoplasia involving the skeleton	4796	TONSL	OMIM:271510
HP:0009115	Aplasia/hypoplasia involving the skeleton	51360	MBTPS2	OMIM:301014
HP:0009115	Aplasia/hypoplasia involving the skeleton	79796	ALG9	ORPHA:79328
HP:0009115	Aplasia/hypoplasia involving the skeleton	5130	PCYT1A	ORPHA:85167
HP:0009115	Aplasia/hypoplasia involving the skeleton	5130	PCYT1A	OMIM:608940
HP:0009115	Aplasia/hypoplasia involving the skeleton	9702	CEP57	OMIM:614114
HP:0009115	Aplasia/hypoplasia involving the skeleton	23387	SIK3	OMIM:618162
HP:0009115	Aplasia/hypoplasia involving the skeleton	153241	CEP120	OMIM:616300
HP:0009115	Aplasia/hypoplasia involving the skeleton	10491	CRTAP	OMIM:610682
HP:0009115	Aplasia/hypoplasia involving the skeleton	7474	WNT5A	OMIM:180700
HP:0009115	Aplasia/hypoplasia involving the skeleton	1855	DVL1	OMIM:180700
HP:0009115	Aplasia/hypoplasia involving the skeleton	10682	EBP	OMIM:302960
HP:0009115	Aplasia/hypoplasia involving the skeleton	1513	CTSK	ORPHA:763
HP:0009115	Aplasia/hypoplasia involving the skeleton	81570	CLPB	OMIM:616271
HP:0009115	Aplasia/hypoplasia involving the skeleton	2535	FZD2	ORPHA:93328
HP:0009115	Aplasia/hypoplasia involving the skeleton	57560	IFT80	OMIM:611263
HP:0009115	Aplasia/hypoplasia involving the skeleton	25886	POC1A	OMIM:614813
HP:0009115	Aplasia/hypoplasia involving the skeleton	871	SERPINH1	OMIM:613848
HP:0009115	Aplasia/hypoplasia involving the skeleton	8092	ALX1	ORPHA:306542
HP:0009115	Aplasia/hypoplasia involving the skeleton	56992	KIF15	ORPHA:261323
HP:0009115	Aplasia/hypoplasia involving the skeleton	6598	SMARCB1	ORPHA:1465
HP:0009115	Aplasia/hypoplasia involving the skeleton	6659	SOX4	ORPHA:1465
HP:0009115	Aplasia/hypoplasia involving the skeleton	5977	DPF2	ORPHA:1465
HP:0009115	Aplasia/hypoplasia involving the skeleton	6601	SMARCC2	ORPHA:1465
HP:0009115	Aplasia/hypoplasia involving the skeleton	6602	SMARCD1	ORPHA:1465
HP:0009115	Aplasia/hypoplasia involving the skeleton	2122	MECOM	OMIM:616738
HP:0009115	Aplasia/hypoplasia involving the skeleton	8820	HESX1	OMIM:182230
HP:0009115	Aplasia/hypoplasia involving the skeleton	8820	HESX1	ORPHA:226307
HP:0009115	Aplasia/hypoplasia involving the skeleton	26154	ABCA12	OMIM:242500
HP:0009115	Aplasia/hypoplasia involving the skeleton	6134	RPL10	OMIM:300998
HP:0009115	Aplasia/hypoplasia involving the skeleton	6134	RPL10	ORPHA:459070
HP:0009115	Aplasia/hypoplasia involving the skeleton	5626	PROP1	ORPHA:226307
HP:0009115	Aplasia/hypoplasia involving the skeleton	89884	LHX4	ORPHA:226307
HP:0009115	Aplasia/hypoplasia involving the skeleton	8022	LHX3	ORPHA:226307
HP:0009115	Aplasia/hypoplasia involving the skeleton	5449	POU1F1	ORPHA:226307
HP:0009115	Aplasia/hypoplasia involving the skeleton	444	ASPH	OMIM:601552
HP:0009115	Aplasia/hypoplasia involving the skeleton	164	AP1G1	OMIM:619467
HP:0009115	Aplasia/hypoplasia involving the skeleton	3736	KCNA1	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	2775	GNAO1	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	81603	TRIM8	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	2902	GRIN1	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	79751	SLC25A22	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	150094	SIK1	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	23312	DMXL2	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	2917	GRM7	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	11284	PNKP	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	6326	SCN2A	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	51227	PIGP	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	6324	SCN1B	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	4761	NEUROD2	ORPHA:1934
HP:0009115	Aplasia/hypoplasia involving the skeleton	2019	EN1	OMIM:619218
HP:0009115	Aplasia/hypoplasia involving the skeleton	8200	GDF5	OMIM:113100
HP:0009115	Aplasia/hypoplasia involving the skeleton	4212	MEIS2	OMIM:600987
HP:0009115	Aplasia/hypoplasia involving the skeleton	10265	IRX5	OMIM:611174
HP:0009115	Aplasia/hypoplasia involving the skeleton	79659	DYNC2H1	OMIM:613091
HP:0009115	Aplasia/hypoplasia involving the skeleton	55636	CHD7	OMIM:214800
HP:0009115	Aplasia/hypoplasia involving the skeleton	9742	IFT140	OMIM:266920
HP:0009115	Aplasia/hypoplasia involving the skeleton	3239	HOXD13	ORPHA:93409
HP:0009115	Aplasia/hypoplasia involving the skeleton	4613	MYCN	ORPHA:391641
HP:0009115	Aplasia/hypoplasia involving the skeleton	27152	INTU	OMIM:617926
HP:0009115	Aplasia/hypoplasia involving the skeleton	9935	MAFB	ORPHA:233
HP:0009115	Aplasia/hypoplasia involving the skeleton	1123	CHN1	ORPHA:233
HP:0009115	Aplasia/hypoplasia involving the skeleton	54888	NSUN2	ORPHA:235
HP:0009115	Aplasia/hypoplasia involving the skeleton	5925	RB1	ORPHA:1587
HP:0009115	Aplasia/hypoplasia involving the skeleton	6885	MAP3K7	ORPHA:1826
HP:0009115	Aplasia/hypoplasia involving the skeleton	5293	PIK3CD	ORPHA:221139
HP:0009115	Aplasia/hypoplasia involving the skeleton	90417	KNSTRN	ORPHA:221139
HP:0009115	Aplasia/hypoplasia involving the skeleton	5727	PTCH1	OMIM:109400
HP:0009115	Aplasia/hypoplasia involving the skeleton	7204	TRIO	ORPHA:476126
HP:0009115	Aplasia/hypoplasia involving the skeleton	6651	SON	ORPHA:500150
HP:0009115	Aplasia/hypoplasia involving the skeleton	8452	CUL3	OMIM:619239
HP:0009115	Aplasia/hypoplasia involving the skeleton	5718	PSMD12	OMIM:617516
HP:0009115	Aplasia/hypoplasia involving the skeleton	6135	RPL11	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6138	RPL15	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6229	RPS24	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6125	RPL5	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6204	RPS10	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6224	RPS20	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6165	RPL35A	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	2623	GATA1	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6232	RPS27	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6231	RPS26	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	11224	RPL35	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6160	RPL31	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6218	RPS17	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6201	RPS7	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6155	RPL27	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6210	RPS15A	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	90121	TSR2	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6141	RPL18	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6235	RPS29	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	6234	RPS28	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	51816	ADA2	ORPHA:124
HP:0009115	Aplasia/hypoplasia involving the skeleton	2255	FGF10	ORPHA:2363
HP:0009115	Aplasia/hypoplasia involving the skeleton	23028	KDM1A	OMIM:616728
HP:0009115	Aplasia/hypoplasia involving the skeleton	23028	KDM1A	ORPHA:477993
HP:0009115	Aplasia/hypoplasia involving the skeleton	29998	BICRA	OMIM:619325
HP:0009115	Aplasia/hypoplasia involving the skeleton	1723	DHODH	OMIM:263750
HP:0009115	Aplasia/hypoplasia involving the skeleton	54880	BCOR	ORPHA:2712
HP:0009115	Aplasia/hypoplasia involving the skeleton	3209	HOXA13	ORPHA:2438
HP:0009115	Aplasia/hypoplasia involving the skeleton	3209	HOXA13	OMIM:176305
HP:0009115	Aplasia/hypoplasia involving the skeleton	7020	TFAP2A	OMIM:113620
HP:0009115	Aplasia/hypoplasia involving the skeleton	10815	CPLX1	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	10815	CPLX1	OMIM:194190
HP:0009115	Aplasia/hypoplasia involving the skeleton	54872	PIGG	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	7469	NELFA	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	1487	CTBP1	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	1487	CTBP1	OMIM:194190
HP:0009115	Aplasia/hypoplasia involving the skeleton	3954	LETM1	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	3954	LETM1	OMIM:194190
HP:0009115	Aplasia/hypoplasia involving the skeleton	7468	NSD2	ORPHA:280
HP:0009115	Aplasia/hypoplasia involving the skeleton	7468	NSD2	OMIM:194190
HP:0009115	Aplasia/hypoplasia involving the skeleton	25942	SIN3A	OMIM:613406
HP:0009115	Aplasia/hypoplasia involving the skeleton	53834	FGFRL1	OMIM:194190
HP:0009115	Aplasia/hypoplasia involving the skeleton	1387	CREBBP	OMIM:180849
HP:0009115	Aplasia/hypoplasia involving the skeleton	2033	EP300	OMIM:180849
HP:0009115	Aplasia/hypoplasia involving the skeleton	80036	TRPM3	OMIM:620224
HP:0009115	Aplasia/hypoplasia involving the skeleton	374879	ZNF699	OMIM:619488
HP:0009115	Aplasia/hypoplasia involving the skeleton	7750	ZMYM2	OMIM:619522
HP:0009115	Aplasia/hypoplasia involving the skeleton	407975	MIR17HG	ORPHA:391646
HP:0009115	Aplasia/hypoplasia involving the skeleton	50515	CHST11	OMIM:618167
HP:0009115	Aplasia/hypoplasia involving the skeleton	4256	MGP	OMIM:245150
HP:0009115	Aplasia/hypoplasia involving the skeleton	9968	MED12	OMIM:300895
HP:0009115	Aplasia/hypoplasia involving the skeleton	84823	LMNB2	OMIM:616540
HP:0009115	Aplasia/hypoplasia involving the skeleton	2200	FBN1	ORPHA:3449
HP:0009115	Aplasia/hypoplasia involving the skeleton	4053	LTBP2	ORPHA:3449
HP:0009115	Aplasia/hypoplasia involving the skeleton	81794	ADAMTS10	ORPHA:3449
HP:0009115	Aplasia/hypoplasia involving the skeleton	26100	WIPI2	OMIM:618453
HP:0009115	Aplasia/hypoplasia involving the skeleton	9060	PAPSS2	OMIM:612847
HP:0009115	Aplasia/hypoplasia involving the skeleton	1009	CDH11	ORPHA:1299
HP:0009115	Aplasia/hypoplasia involving the skeleton	2571	GAD1	OMIM:619124
HP:0009115	Aplasia/hypoplasia involving the skeleton	55343	SLC35C1	ORPHA:99843
HP:0009115	Aplasia/hypoplasia involving the skeleton	1297	COL9A1	ORPHA:166002
HP:0009115	Aplasia/hypoplasia involving the skeleton	1298	COL9A2	ORPHA:166002
HP:0009115	Aplasia/hypoplasia involving the skeleton	5331	PLCB3	OMIM:618961
HP:0009115	Aplasia/hypoplasia involving the skeleton	2530	FUT8	OMIM:618005
HP:0009115	Aplasia/hypoplasia involving the skeleton	7518	XRCC4	OMIM:616541
HP:0009115	Aplasia/hypoplasia involving the skeleton	8218	CLTCL1	ORPHA:453510
HP:0009115	Aplasia/hypoplasia involving the skeleton	1277	COL1A1	OMIM:166210
HP:0009115	Aplasia/hypoplasia involving the skeleton	1278	COL1A2	OMIM:166210
HP:0009115	Aplasia/hypoplasia involving the skeleton	64116	SLC39A8	ORPHA:468699
HP:0009115	Aplasia/hypoplasia involving the skeleton	5160	PDHA1	ORPHA:79243
HP:0009115	Aplasia/hypoplasia involving the skeleton	27077	B9D1	OMIM:614209
HP:0009115	Aplasia/hypoplasia involving the skeleton	8813	DPM1	ORPHA:79322
HP:0009115	Aplasia/hypoplasia involving the skeleton	51199	NIN	ORPHA:319675
HP:0009115	Aplasia/hypoplasia involving the skeleton	26227	PHGDH	OMIM:256520
HP:0009115	Aplasia/hypoplasia involving the skeleton	9488	PIGB	OMIM:618580
HP:0009115	Aplasia/hypoplasia involving the skeleton	10617	STAMBP	OMIM:614261
HP:0009115	Aplasia/hypoplasia involving the skeleton	51412	ACTL6B	OMIM:618470
HP:0009115	Aplasia/hypoplasia involving the skeleton	613	BCR	ORPHA:261330
HP:0009115	Aplasia/hypoplasia involving the skeleton	1399	CRKL	ORPHA:261330
HP:0009115	Aplasia/hypoplasia involving the skeleton	5594	MAPK1	ORPHA:261330
HP:0009115	Aplasia/hypoplasia involving the skeleton	55784	MCTP2	ORPHA:1596
HP:0009115	Aplasia/hypoplasia involving the skeleton	3764	KCNJ8	ORPHA:1517
HP:0009115	Aplasia/hypoplasia involving the skeleton	10060	ABCC9	ORPHA:1517
HP:0009115	Aplasia/hypoplasia involving the skeleton	29957	SLC25A24	ORPHA:2963
HP:0009115	Aplasia/hypoplasia involving the skeleton	29957	SLC25A24	ORPHA:2095
HP:0009115	Aplasia/hypoplasia involving the skeleton	29957	SLC25A24	OMIM:612289
HP:0009115	Aplasia/hypoplasia involving the skeleton	24140	FTSJ1	OMIM:309549
HP:0009115	Aplasia/hypoplasia involving the skeleton	64359	NXN	ORPHA:1507
HP:0009115	Aplasia/hypoplasia involving the skeleton	8289	ARID1A	OMIM:614607
HP:0009115	Aplasia/hypoplasia involving the skeleton	5566	PRKACA	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	5567	PRKACB	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	2735	GLI1	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	2121	EVC	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	51626	DYNC2LI1	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	132884	EVC2	ORPHA:289
HP:0009115	Aplasia/hypoplasia involving the skeleton	9419	CRIPT	OMIM:615789
HP:0009115	Aplasia/hypoplasia involving the skeleton	54	ACP5	ORPHA:1855
HP:0009115	Aplasia/hypoplasia involving the skeleton	6197	RPS6KA3	ORPHA:192
HP:0009115	Aplasia/hypoplasia involving the skeleton	1300	COL10A1	OMIM:156500
HP:0009115	Aplasia/hypoplasia involving the skeleton	2677	GGCX	OMIM:277450
HP:0009115	Aplasia/hypoplasia involving the skeleton	10283	CWC27	OMIM:250410
HP:0009115	Aplasia/hypoplasia involving the skeleton	26137	ZBTB20	OMIM:259050
HP:0009115	Aplasia/hypoplasia involving the skeleton	60401	EDA2R	ORPHA:181
HP:0009115	Aplasia/hypoplasia involving the skeleton	1896	EDA	ORPHA:181
HP:0009115	Aplasia/hypoplasia involving the skeleton	5159	PDGFRB	OMIM:601812
HP:0009115	Aplasia/hypoplasia involving the skeleton	28952	CCDC22	OMIM:300963
HP:0009115	Aplasia/hypoplasia involving the skeleton	182	JAG1	OMIM:118450
HP:0009115	Aplasia/hypoplasia involving the skeleton	7291	TWIST1	OMIM:617746
HP:0009115	Aplasia/hypoplasia involving the skeleton	6605	SMARCE1	OMIM:616938
HP:0009115	Aplasia/hypoplasia involving the skeleton	8242	KDM5C	OMIM:300534
HP:0009115	Aplasia/hypoplasia involving the skeleton	1186	CLCN7	ORPHA:53
HP:0009115	Aplasia/hypoplasia involving the skeleton	2702	GJA5	OMIM:612474
HP:0009115	Aplasia/hypoplasia involving the skeleton	2703	GJA8	OMIM:612474
HP:0009115	Aplasia/hypoplasia involving the skeleton	6664	SOX11	OMIM:615866
HP:0009115	Aplasia/hypoplasia involving the skeleton	55081	IFT57	OMIM:617927
HP:0009115	Aplasia/hypoplasia involving the skeleton	865	CBFB	OMIM:620099
HP:0009115	Aplasia/hypoplasia involving the skeleton	5015	OTX2	ORPHA:990
HP:0009115	Aplasia/hypoplasia involving the skeleton	23476	BRD4	ORPHA:199
HP:0009115	Aplasia/hypoplasia involving the skeleton	9126	SMC3	ORPHA:199
HP:0009115	Aplasia/hypoplasia involving the skeleton	8243	SMC1A	ORPHA:199
HP:0009115	Aplasia/hypoplasia involving the skeleton	55869	HDAC8	ORPHA:199
HP:0009115	Aplasia/hypoplasia involving the skeleton	5885	RAD21	ORPHA:199
HP:0009115	Aplasia/hypoplasia involving the skeleton	26224	FBXL3	OMIM:606220
HP:0009115	Aplasia/hypoplasia involving the skeleton	55612	FERMT1	ORPHA:2908
HP:0009115	Aplasia/hypoplasia involving the skeleton	8823	FGF16	OMIM:309630
HP:0009115	Aplasia/hypoplasia involving the skeleton	55733	HHAT	OMIM:600092
HP:0009115	Aplasia/hypoplasia involving the skeleton	55733	HHAT	ORPHA:1422
HP:0009115	Aplasia/hypoplasia involving the skeleton	149775	GNAS-AS1	OMIM:603233
HP:0009115	Aplasia/hypoplasia involving the skeleton	8675	STX16	OMIM:603233
HP:0009115	Aplasia/hypoplasia involving the skeleton	117581	TWIST2	OMIM:200110
HP:0009115	Aplasia/hypoplasia involving the skeleton	10225	CD96	OMIM:211750
HP:0009115	Aplasia/hypoplasia involving the skeleton	64175	P3H1	OMIM:610915
HP:0009115	Aplasia/hypoplasia involving the skeleton	64131	XYLT1	OMIM:615777
HP:0009115	Aplasia/hypoplasia involving the skeleton	4054	LTBP3	ORPHA:969
HP:0009115	Aplasia/hypoplasia involving the skeleton	5139	PDE3A	OMIM:112410
HP:0009115	Aplasia/hypoplasia involving the skeleton	5139	PDE3A	ORPHA:1276
HP:0009115	Aplasia/hypoplasia involving the skeleton	4810	NHS	ORPHA:627
HP:0009115	Aplasia/hypoplasia involving the skeleton	1299	COL9A3	OMIM:600969
HP:0009115	Aplasia/hypoplasia involving the skeleton	4148	MATN3	OMIM:607078
HP:0009115	Aplasia/hypoplasia involving the skeleton	55252	ASXL2	OMIM:617190
HP:0009115	Aplasia/hypoplasia involving the skeleton	91252	SLC39A13	OMIM:612350
HP:0009115	Aplasia/hypoplasia involving the skeleton	25871	NEPRO	OMIM:618853
HP:0009115	Aplasia/hypoplasia involving the skeleton	64682	ANAPC1	ORPHA:221008
HP:0009115	Aplasia/hypoplasia involving the skeleton	90	ACVR1	ORPHA:337
HP:0009115	Aplasia/hypoplasia involving the skeleton	7994	KAT6A	OMIM:616268
HP:0009115	Aplasia/hypoplasia involving the skeleton	9487	PIGL	ORPHA:3474
HP:0009115	Aplasia/hypoplasia involving the skeleton	51715	RAB23	OMIM:201000
HP:0009115	Aplasia/hypoplasia involving the skeleton	1954	MEGF8	OMIM:614976
HP:0009115	Aplasia/hypoplasia involving the skeleton	81839	VANGL1	OMIM:600145
HP:0009115	Aplasia/hypoplasia involving the skeleton	81839	VANGL1	OMIM:182940
HP:0009115	Aplasia/hypoplasia involving the skeleton	7547	ZIC3	OMIM:306955
HP:0009115	Aplasia/hypoplasia involving the skeleton	23498	HAAO	OMIM:617660
HP:0009115	Aplasia/hypoplasia involving the skeleton	3110	MNX1	OMIM:176450
HP:0009115	Aplasia/hypoplasia involving the skeleton	57216	VANGL2	OMIM:182940
HP:0009115	Aplasia/hypoplasia involving the skeleton	6347	CCL2	OMIM:182940
HP:0009115	Aplasia/hypoplasia involving the skeleton	6862	TBXT	OMIM:182940
HP:0009115	Aplasia/hypoplasia involving the skeleton	6862	TBXT	OMIM:615709
HP:0009115	Aplasia/hypoplasia involving the skeleton	80199	FUZ	OMIM:182940
HP:0009115	Aplasia/hypoplasia involving the skeleton	4838	NODAL	OMIM:270100
HP:0009115	Aplasia/hypoplasia involving the skeleton	6299	SALL1	OMIM:107480
HP:0009115	Aplasia/hypoplasia involving the skeleton	6299	SALL1	ORPHA:857
HP:0009115	Aplasia/hypoplasia involving the skeleton	51339	DACT1	ORPHA:857
HP:0009115	Aplasia/hypoplasia involving the skeleton	51776	MAP3K20	ORPHA:488232
HP:0009115	Aplasia/hypoplasia involving the skeleton	64374	SIL1	OMIM:248800
HP:0009115	Aplasia/hypoplasia involving the skeleton	5744	PTHLH	OMIM:613382
HP:0009115	Aplasia/hypoplasia involving the skeleton	5744	PTHLH	ORPHA:93387
HP:0009115	Aplasia/hypoplasia involving the skeleton	124583	CANT1	OMIM:251450
HP:0009115	Aplasia/hypoplasia involving the skeleton	3759	KCNJ2	OMIM:170390
HP:0009115	Aplasia/hypoplasia involving the skeleton	22856	CHSY1	OMIM:605282
HP:0009115	Aplasia/hypoplasia involving the skeleton	157680	VPS13B	OMIM:216550
HP:0009115	Aplasia/hypoplasia involving the skeleton	6595	SMARCA2	OMIM:601358
HP:0009115	Aplasia/hypoplasia involving the skeleton	6736	SRY	ORPHA:1772
HP:0009115	Aplasia/hypoplasia involving the skeleton	7227	TRPS1	OMIM:190350
HP:0009115	Aplasia/hypoplasia involving the skeleton	7227	TRPS1	OMIM:190351
HP:0009115	Aplasia/hypoplasia involving the skeleton	7227	TRPS1	ORPHA:77258
HP:0009115	Aplasia/hypoplasia involving the skeleton	79971	WLS	OMIM:619648
HP:0009115	Aplasia/hypoplasia involving the skeleton	3516	RBPJ	OMIM:614814
HP:0009115	Aplasia/hypoplasia involving the skeleton	3516	RBPJ	ORPHA:974
HP:0009115	Aplasia/hypoplasia involving the skeleton	4851	NOTCH1	ORPHA:974
HP:0009115	Aplasia/hypoplasia involving the skeleton	57514	ARHGAP31	ORPHA:974
HP:0009115	Aplasia/hypoplasia involving the skeleton	57572	DOCK6	ORPHA:974
HP:0009115	Aplasia/hypoplasia involving the skeleton	137814	NKX2-6	ORPHA:3384
HP:0009115	Aplasia/hypoplasia involving the skeleton	6597	SMARCA4	OMIM:614609
HP:0009115	Aplasia/hypoplasia involving the skeleton	3782	KCNN3	OMIM:618658
HP:0009115	Aplasia/hypoplasia involving the skeleton	285203	EOGT	OMIM:615297
HP:0009115	Aplasia/hypoplasia involving the skeleton	658	BMPR1B	ORPHA:2098
HP:0009115	Aplasia/hypoplasia involving the skeleton	3265	HRAS	ORPHA:2874
HP:0009115	Aplasia/hypoplasia involving the skeleton	8720	MBTPS1	OMIM:618392
HP:0009115	Aplasia/hypoplasia involving the skeleton	8838	CCN6	ORPHA:1159
HP:0009115	Aplasia/hypoplasia involving the skeleton	10216	PRG4	ORPHA:2848
HP:0009115	Aplasia/hypoplasia involving the skeleton	5286	PIK3C2A	OMIM:618440
HP:0009115	Aplasia/hypoplasia involving the skeleton	1108	CHD4	OMIM:617159
HP:0009115	Aplasia/hypoplasia involving the skeleton	80169	CTC1	OMIM:612199
HP:0009115	Aplasia/hypoplasia involving the skeleton	26128	KIFBP	OMIM:609460
HP:0009115	Aplasia/hypoplasia involving the skeleton	9698	PUM1	OMIM:617931
HP:0009115	Aplasia/hypoplasia involving the skeleton	781	CACNA2D1	OMIM:620149
HP:0009115	Aplasia/hypoplasia involving the skeleton	123263	MTFMT	OMIM:614947
HP:0009115	Aplasia/hypoplasia involving the skeleton	3248	HPGD	ORPHA:2796
HP:0009115	Aplasia/hypoplasia involving the skeleton	6578	SLCO2A1	ORPHA:2796
HP:0009115	Aplasia/hypoplasia involving the skeleton	8558	CDK10	OMIM:617694
HP:0009115	Aplasia/hypoplasia involving the skeleton	7486	WRN	ORPHA:902
HP:0009115	Aplasia/hypoplasia involving the skeleton	4849	CNOT3	OMIM:618672
HP:0009115	Aplasia/hypoplasia involving the skeleton	388662	SLC6A17	OMIM:616269
HP:0009115	Aplasia/hypoplasia involving the skeleton	406932	MIR140	OMIM:618618
HP:0009115	Aplasia/hypoplasia involving the skeleton	404672	GTF2H5	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	833	CARS1	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	2068	ERCC2	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	7737	RNF113A	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	136647	MPLKIP	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	6897	TARS1	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	2071	ERCC3	ORPHA:33364
HP:0009115	Aplasia/hypoplasia involving the skeleton	2961	GTF2E2	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2737	GLI3	ORPHA:672
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22827	PUF60	ORPHA:508498
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22827	PUF60	ORPHA:508488
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57190	SELENON	ORPHA:324604
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4625	MYH7	ORPHA:324604
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7273	TTN	ORPHA:324604
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55906	ZC4H2	OMIM:301041
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6134	RPL10	OMIM:300998
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6134	RPL10	ORPHA:459070
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	286053	NSMCE2	OMIM:617253
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4000	LMNA	OMIM:619793
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	50814	NSDHL	ORPHA:251383
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9871	SEC24D	OMIM:616294
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	374654	KIF7	OMIM:200990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79868	ALG13	OMIM:300884
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5649	RELN	ORPHA:89844
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10300	KATNB1	ORPHA:89844
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54820	NDE1	ORPHA:89844
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55790	CSGALNACT1	OMIM:618870
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26224	FBXL3	OMIM:606220
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4784	NFIX	OMIM:602535
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84068	SLC10A7	OMIM:618363
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8260	NAA10	OMIM:300855
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8260	NAA10	ORPHA:276432
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	113189	CHST14	ORPHA:2953
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	113189	CHST14	OMIM:601776
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29940	DSE	ORPHA:2953
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9692	PRORP	OMIM:619737
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7994	KAT6A	ORPHA:457193
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7994	KAT6A	OMIM:616268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	90993	CREB3L1	OMIM:616229
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9325	TRIP4	OMIM:616866
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1717	DHCR7	OMIM:270400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54968	TMEM70	OMIM:614052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1501	CTNND2	ORPHA:281
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9037	SEMA5A	ORPHA:281
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23327	NEDD4L	OMIM:617201
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23545	ATP6V0A2	OMIM:278250
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9419	CRIPT	OMIM:615789
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25942	SIN3A	OMIM:613406
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26005	C2CD3	OMIM:615948
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26005	C2CD3	ORPHA:434179
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	59336	PRDM13	OMIM:619909
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10526	IPO8	OMIM:619472
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	340419	RSPO2	OMIM:618021
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23443	SLC35A3	OMIM:615553
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9894	TELO2	ORPHA:488642
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79770	TXNDC15	OMIM:619879
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25914	RTTN	ORPHA:468631
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55165	CEP55	OMIM:236500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79796	ALG9	ORPHA:79328
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10682	EBP	OMIM:300960
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23556	PIGN	ORPHA:280633
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2571	GAD1	OMIM:619124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6872	TAF1	OMIM:300966
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55617	TASP1	OMIM:618950
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51305	KCNK9	OMIM:612292
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5075	PAX1	OMIM:615560
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8481	OFD1	OMIM:311200
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	60482	SLC5A7	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4649	MYO9A	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1305	COL13A1	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1103	CHAT	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6576	SLC25A1	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6843	VAMP1	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	375790	AGRN	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	127833	SYT2	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6572	SLC18A3	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6616	SNAP25	ORPHA:98914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	100506658	OCLN	OMIM:251290
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55717	WDR11	OMIM:620237
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	124583	CANT1	OMIM:251450
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7846	TUBA1A	ORPHA:171680
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	342035	GLDN	OMIM:617194
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	153241	CEP120	OMIM:616300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8565	YARS1	OMIM:619418
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8815	BANF1	OMIM:614008
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51082	POLR1D	OMIM:613717
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10262	SF3B4	ORPHA:1788
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9469	CHST3	OMIM:245600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26229	B3GAT3	OMIM:245600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1280	COL2A1	OMIM:200610
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	11133	KPTN	ORPHA:397612
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9775	EIF4A3	OMIM:268305
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26173	INTS1	OMIM:618571
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1718	DHCR24	OMIM:602398
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1718	DHCR24	ORPHA:35107
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4897	NRCAM	OMIM:619833
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1134	CHRNA1	OMIM:608930
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1134	CHRNA1	OMIM:253290
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55209	SETD5	ORPHA:404440
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55209	SETD5	OMIM:615761
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2317	FLNB	ORPHA:56305
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2317	FLNB	ORPHA:1190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2317	FLNB	OMIM:108721
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2317	FLNB	OMIM:108720
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1836	SLC26A2	ORPHA:56304
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1836	SLC26A2	OMIM:256050
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1836	SLC26A2	ORPHA:93298
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1836	SLC26A2	ORPHA:628
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1836	SLC26A2	ORPHA:93307
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6662	SOX9	ORPHA:140
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6662	SOX9	OMIM:114290
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6662	SOX9	ORPHA:718
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5932	RBBP8	OMIM:606744
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5932	RBBP8	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2073	ERCC5	OMIM:616570
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2073	ERCC5	ORPHA:1466
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9578	CDC42BPB	OMIM:619841
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80816	ASXL3	OMIM:615485
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1855	DVL1	OMIM:616331
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1855	DVL1	OMIM:180700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1855	DVL1	ORPHA:3107
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27245	AHDC1	ORPHA:412069
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27245	AHDC1	OMIM:615829
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23426	GRIP1	OMIM:617667
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5184	PEPD	OMIM:170100
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5184	PEPD	ORPHA:742
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10084	PQBP1	ORPHA:93946
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10084	PQBP1	OMIM:309500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57082	KNL1	OMIM:604321
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79158	GNPTAB	OMIM:252500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	284403	WDR62	OMIM:604317
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1513	CTSK	OMIM:265800
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1513	CTSK	ORPHA:763
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55154	MSTO1	OMIM:617675
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55154	MSTO1	ORPHA:502423
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54453	RIN2	OMIM:613075
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1020	CDK5	OMIM:616342
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79029	AFG2B	OMIM:619616
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64359	NXN	OMIM:618529
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64359	NXN	ORPHA:1507
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9968	MED12	ORPHA:93932
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9968	MED12	ORPHA:776
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9968	MED12	OMIM:309520
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9968	MED12	OMIM:305450
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9968	MED12	OMIM:300895
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55681	SCYL2	OMIM:618766
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55681	SCYL2	ORPHA:1143
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4604	MYBPC1	OMIM:618524
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5191	PEX7	OMIM:215100
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3339	HSPG2	ORPHA:1865
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3339	HSPG2	OMIM:255800
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3339	HSPG2	OMIM:224410
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3339	HSPG2	ORPHA:800
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2697	GJA1	ORPHA:2710
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2697	GJA1	OMIM:257850
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9401	RECQL4	OMIM:218600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9401	RECQL4	OMIM:268400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9401	RECQL4	ORPHA:1225
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	171023	ASXL1	ORPHA:97297
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	171023	ASXL1	OMIM:605039
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	89910	UBE3B	ORPHA:2707
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	89910	UBE3B	OMIM:244450
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	11285	B4GALT7	OMIM:130070
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26038	CHD5	OMIM:619873
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5034	P4HB	OMIM:112240
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5034	P4HB	ORPHA:2050
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6905	TBCE	OMIM:241410
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6905	TBCE	ORPHA:2323
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23126	POGZ	OMIM:616364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1909	EDNRA	OMIM:616367
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9091	PIGQ	OMIM:618548
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5728	PTEN	ORPHA:109
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5728	PTEN	OMIM:158350
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55210	ATAD3A	ORPHA:496790
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55210	ATAD3A	OMIM:617183
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55210	ATAD3A	OMIM:618810
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8818	DPM2	OMIM:615042
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8818	DPM2	ORPHA:329178
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4285	MIPEP	OMIM:617228
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	163175	LGI4	OMIM:617468
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79971	WLS	OMIM:619648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79633	FAT4	ORPHA:314679
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79633	FAT4	OMIM:615546
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8642	DCHS1	ORPHA:314679
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8642	DCHS1	OMIM:601390
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3930	LBR	OMIM:215140
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3930	LBR	ORPHA:1426
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23483	TGDS	OMIM:616145
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23483	TGDS	ORPHA:1388
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84168	ANTXR1	OMIM:230740
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84168	ANTXR1	ORPHA:2067
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64919	BCL11B	OMIM:617237
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25836	NIPBL	OMIM:122470
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25836	NIPBL	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6885	MAP3K7	ORPHA:1826
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	641	BLM	ORPHA:125
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6135	RPL11	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6138	RPL15	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6229	RPS24	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6125	RPL5	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6125	RPL5	OMIM:612561
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6204	RPS10	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6224	RPS20	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6165	RPL35A	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2623	GATA1	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6223	RPS19	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6223	RPS19	OMIM:105650
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6232	RPS27	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6231	RPS26	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6231	RPS26	OMIM:613309
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	11224	RPL35	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6160	RPL31	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6218	RPS17	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6201	RPS7	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6155	RPL27	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6154	RPL26	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6210	RPS15A	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	90121	TSR2	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	90121	TSR2	OMIM:300946
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6141	RPL18	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6235	RPS29	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6234	RPS28	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6234	RPS28	OMIM:606164
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51816	ADA2	ORPHA:124
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25970	SH2B1	ORPHA:261197
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1387	CREBBP	OMIM:618332
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1387	CREBBP	OMIM:180849
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1387	CREBBP	ORPHA:353277
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2033	EP300	OMIM:618333
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2033	EP300	OMIM:613684
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2033	EP300	ORPHA:353284
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2033	EP300	OMIM:180849
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9742	IFT140	OMIM:266920
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5881	RAC3	OMIM:618577
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54101	RIPK4	OMIM:263650
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54101	RIPK4	ORPHA:1234
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9427	ECEL1	OMIM:615065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7046	TGFBR1	OMIM:609192
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7046	TGFBR1	ORPHA:60030
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5426	POLE	OMIM:618336
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5081	PAX7	OMIM:618578
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	389827	MYMK	OMIM:254940
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	389827	MYMK	ORPHA:1358
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5813	PURA	ORPHA:314655
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9949	AMMECR1	OMIM:300990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3479	IGF1	ORPHA:73272
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3479	IGF1	OMIM:608747
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4921	DDR2	OMIM:271665
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9488	PIGB	OMIM:618580
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1281	COL3A1	OMIM:618343
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1281	COL3A1	ORPHA:2500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54517	PUS7	OMIM:618342
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8573	CASK	OMIM:300749
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8573	CASK	ORPHA:163937
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79912	PYROXD1	OMIM:617258
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1798	DPAGT1	OMIM:608093
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57122	NUP107	OMIM:618348
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57122	NUP107	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57122	NUP107	OMIM:616730
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2200	FBN1	ORPHA:284979
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2200	FBN1	OMIM:154700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2200	FBN1	ORPHA:2462
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27125	AFF4	ORPHA:444077
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10733	PLK4	OMIM:616171
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10733	PLK4	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2972	BRF1	ORPHA:444072
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91754	NEK9	OMIM:617022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23114	NFASC	OMIM:618356
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6492	SIM1	ORPHA:171829
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51114	ZDHHC9	ORPHA:776
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	65109	UPF3B	ORPHA:776
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4952	OCRL	ORPHA:534
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29954	POMT2	OMIM:236670
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9215	LARGE1	OMIM:236670
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79147	FKRP	OMIM:236670
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10585	POMT1	OMIM:236670
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2218	FKTN	OMIM:236670
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	473	RERE	ORPHA:494344
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	473	RERE	OMIM:616975
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55777	MBD5	OMIM:156200
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5980	REV3L	ORPHA:570
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23129	PLXND1	ORPHA:570
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3039	HBA1	ORPHA:98791
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3040	HBA2	ORPHA:98791
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51132	RLIM	OMIM:300978
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	63925	ZNF335	OMIM:615095
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22930	RAB3GAP1	OMIM:600118
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22930	RAB3GAP1	ORPHA:2510
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22930	RAB3GAP1	ORPHA:1387
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51434	ANAPC7	OMIM:619699
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	92255	LMBRD2	OMIM:619694
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7468	NSD2	OMIM:619695
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7468	NSD2	OMIM:194190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7468	NSD2	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	201163	FLCN	OMIM:610883
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1312	COMT	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	221037	JMJD1C	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2812	GP1BB	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6239	RREB1	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6899	TBX1	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6899	TBX1	ORPHA:1727
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6899	TBX1	OMIM:188400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7290	HIRA	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9632	SEC24C	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7353	UFD1	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	421	ARVCF	ORPHA:567
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7136	TNNI2	OMIM:601680
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7136	TNNI2	ORPHA:1147
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	538	ATP7A	ORPHA:565
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84314	TMEM107	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84314	TMEM107	OMIM:617562
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79867	TCTN2	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80776	B9D2	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79600	TCTN1	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57096	RPGRIP1	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79848	CSPP1	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79848	CSPP1	ORPHA:397715
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80184	CEP290	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51259	TMEM216	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51259	TMEM216	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57545	CC2D2A	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79583	TMEM231	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91147	TMEM67	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27077	B9D1	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23322	RPGRIP1L	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54903	MKS1	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54903	MKS1	OMIM:249000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	65062	TMEM237	ORPHA:564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7317	UBA1	OMIM:301830
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3188	HNRNPH2	OMIM:300986
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4613	MYCN	OMIM:164280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4613	MYCN	ORPHA:391641
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26040	SETBP1	ORPHA:798
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4927	NUP88	ORPHA:994
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4927	NUP88	OMIM:618393
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4654	MYOD1	ORPHA:994
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4593	MUSK	ORPHA:994
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4593	MUSK	OMIM:208150
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5913	RAPSN	ORPHA:994
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5913	RAPSN	OMIM:618388
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	285489	DOK7	ORPHA:994
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	285489	DOK7	OMIM:618389
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	50801	KCNK4	OMIM:618381
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	65250	CPLANE1	OMIM:277170
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	65250	CPLANE1	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	134218	DNAJC21	OMIM:617052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57061	HYMAI	ORPHA:96191
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5325	PLAGL1	ORPHA:96191
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	348180	CTU2	OMIM:618142
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6608	SMO	OMIM:241800
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80036	TRPM3	OMIM:620224
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10283	CWC27	ORPHA:166035
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10283	CWC27	OMIM:250410
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	388015	RTL1	ORPHA:96184
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	388015	RTL1	ORPHA:96334
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	388015	RTL1	ORPHA:254531
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	388015	RTL1	ORPHA:254525
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8788	DLK1	ORPHA:96184
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8788	DLK1	ORPHA:96334
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8788	DLK1	ORPHA:254531
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8788	DLK1	ORPHA:254525
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55384	MEG3	ORPHA:96184
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55384	MEG3	ORPHA:96334
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55384	MEG3	ORPHA:254531
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55384	MEG3	ORPHA:254525
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2887	GRB10	ORPHA:96182
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25839	COG4	OMIM:618150
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10269	ZMPSTE24	ORPHA:740
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10269	ZMPSTE24	ORPHA:90154
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10269	ZMPSTE24	ORPHA:1662
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10269	ZMPSTE24	OMIM:608612
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10269	ZMPSTE24	OMIM:275210
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1457	CSNK2A1	OMIM:617062
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7204	TRIO	OMIM:617061
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7204	TRIO	ORPHA:476126
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2222	FDFT1	OMIM:618156
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	203068	TUBB	OMIM:156610
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	203068	TUBB	ORPHA:2505
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	374879	ZNF699	OMIM:619488
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8567	MADD	OMIM:619005
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55640	FLVCR2	OMIM:225790
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23112	TNRC6B	OMIM:619243
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9373	PLAA	ORPHA:521426
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9373	PLAA	OMIM:617527
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	93587	TRMT10A	ORPHA:391408
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84919	PPP1R15B	ORPHA:391408
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84919	PPP1R15B	OMIM:616817
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	199221	DZIP1L	ORPHA:731
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5314	PKHD1	ORPHA:731
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	60386	SLC25A19	OMIM:607196
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	60386	SLC25A19	ORPHA:99742
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	126792	B3GALT6	OMIM:271640
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	126792	B3GALT6	OMIM:609465
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	126792	B3GALT6	ORPHA:93359
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	126792	B3GALT6	ORPHA:536467
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10436	EMG1	OMIM:211180
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10436	EMG1	ORPHA:1270
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5745	PTH1R	OMIM:156400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5745	PTH1R	OMIM:215045
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5745	PTH1R	ORPHA:50945
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6748	SSR4	OMIM:300934
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84464	SLX4	OMIM:613951
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84464	SLX4	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5557	PRIM1	OMIM:620005
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	219844	HYLS1	OMIM:236680
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	219844	HYLS1	ORPHA:2189
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7474	WNT5A	OMIM:180700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7474	WNT5A	ORPHA:3107
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2801	GOLGA2	OMIM:620240
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9897	WASHC5	ORPHA:7
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9897	WASHC5	OMIM:220210
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	28952	CCDC22	ORPHA:7
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	114034	TOE1	ORPHA:284339
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	114034	TOE1	OMIM:614969
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9562	MINPP1	ORPHA:284339
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55181	SMG8	OMIM:619268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51109	RDH11	ORPHA:436245
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51002	TPRKB	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84942	WDR73	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84942	WDR73	OMIM:251300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55644	OSGEP	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55644	OSGEP	OMIM:617729
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10785	WDR4	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55746	NUP133	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	112858	TP53RK	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8270	LAGE3	ORPHA:2065
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8270	LAGE3	OMIM:301006
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8085	KMT2D	OMIM:147920
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8085	KMT2D	OMIM:620186
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7403	KDM6A	OMIM:147920
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7403	KDM6A	OMIM:300867
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	168667	BMPER	OMIM:608022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8243	SMC1A	OMIM:300590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8243	SMC1A	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2294	FOXF1	OMIM:265380
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	324	APC	ORPHA:261584
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6309	SC5D	ORPHA:46059
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6309	SC5D	OMIM:607330
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	161742	SPRED1	OMIM:611431
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	673	BRAF	OMIM:115150
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	673	BRAF	OMIM:163950
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57539	WDR35	OMIM:613610
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57539	WDR35	ORPHA:93271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7518	XRCC4	ORPHA:99812
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7518	XRCC4	ORPHA:436182
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3981	LIG4	ORPHA:99812
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3981	LIG4	ORPHA:235
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1303	COL12A1	ORPHA:75840
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1303	COL12A1	ORPHA:536516
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1291	COL6A1	ORPHA:75840
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1292	COL6A2	ORPHA:75840
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1293	COL6A3	ORPHA:75840
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55112	DYNC2I1	ORPHA:93271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57560	IFT80	ORPHA:93271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79659	DYNC2H1	ORPHA:93271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	89891	DYNC2I2	ORPHA:93271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80232	WDR26	ORPHA:513456
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80232	WDR26	OMIM:617616
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2314	FLII	ORPHA:819
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23096	IQSEC2	ORPHA:819
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23096	IQSEC2	ORPHA:397933
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10743	RAI1	ORPHA:819
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10743	RAI1	ORPHA:1713
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10522	DEAF1	ORPHA:819
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5818	NECTIN1	ORPHA:3253
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29072	SETD2	OMIM:620157
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29072	SETD2	OMIM:620155
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55780	ERMARD	ORPHA:75857
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10225	CD96	OMIM:211750
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10225	CD96	ORPHA:1308
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26153	KIF26A	OMIM:620156
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9382	COG1	OMIM:611209
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9382	COG1	ORPHA:263508
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1763	DNA2	OMIM:615807
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25778	DSTYK	OMIM:270750
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84992	PIGY	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84720	PIGO	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	93210	PGAP3	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	284098	PIGW	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27315	PGAP2	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55650	PIGV	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9487	PIGL	ORPHA:247262
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23522	KAT6B	OMIM:606170
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23522	KAT6B	ORPHA:85201
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23522	KAT6B	OMIM:603736
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23522	KAT6B	ORPHA:3047
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1801	DPH1	OMIM:616901
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1801	DPH1	ORPHA:459061
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	672	BRCA1	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10459	MAD2L2	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7516	XRCC2	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29089	UBE2T	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	675	BRCA2	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55120	FANCL	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55120	FANCL	OMIM:614083
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2177	FANCD2	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2175	FANCA	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2187	FANCB	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2187	FANCB	ORPHA:3412
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2176	FANCC	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2178	FANCE	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2188	FANCF	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2189	FANCG	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5888	RAD51	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5889	RAD51C	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55159	RFWD3	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	83990	BRIP1	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57697	FANCM	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79728	PALB2	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2072	ERCC4	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55215	FANCI	ORPHA:84
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9896	FIG4	ORPHA:3472
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9896	FIG4	OMIM:216340
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55697	VAC14	ORPHA:3472
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9184	BUB3	ORPHA:1052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	699	BUB1	ORPHA:1052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9702	CEP57	ORPHA:1052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9702	CEP57	OMIM:614114
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9319	TRIP13	ORPHA:1052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	701	BUB1B	ORPHA:1052
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	701	BUB1B	OMIM:257300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23036	ZNF292	OMIM:619188
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23314	SATB2	OMIM:612313
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23314	SATB2	ORPHA:576283
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23314	SATB2	ORPHA:251028
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23314	SATB2	ORPHA:251019
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55636	CHD7	OMIM:214800
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	526	ATP6V1B2	ORPHA:3473
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3756	KCNH1	ORPHA:3473
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3782	KCNN3	ORPHA:3473
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	53834	FGFRL1	OMIM:194190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1487	CTBP1	OMIM:194190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1487	CTBP1	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3954	LETM1	OMIM:194190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3954	LETM1	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3954	LETM1	OMIM:620089
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10815	CPLX1	OMIM:194190
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10815	CPLX1	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	165	AEBP1	ORPHA:536532
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	165	AEBP1	OMIM:618000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3425	IDUA	OMIM:607015
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3192	HNRNPU	ORPHA:238769
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26053	AUTS2	OMIM:615834
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26053	AUTS2	ORPHA:352490
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10013	HDAC6	ORPHA:163966
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79753	SNIP1	OMIM:614501
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3211	HOXB1	OMIM:614744
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54499	TMCO1	OMIM:213980
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	11128	POLR3A	OMIM:264090
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23137	SMC5	OMIM:620185
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10907	TXNL4A	OMIM:608572
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79759	ZNF668	OMIM:620194
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57459	GATAD2B	ORPHA:363686
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6473	SHOX	OMIM:249700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6473	SHOX	ORPHA:314795
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	81887	LAS1L	ORPHA:3459
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55869	HDAC8	ORPHA:3459
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55869	HDAC8	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55869	HDAC8	OMIM:300882
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23261	CAMTA1	OMIM:614756
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10472	ZBTB18	OMIM:612337
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10472	ZBTB18	ORPHA:36367
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2263	FGFR2	ORPHA:2363
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2263	FGFR2	OMIM:614592
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2263	FGFR2	ORPHA:313855
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2255	FGF10	ORPHA:2363
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2535	FZD2	OMIM:164745
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2535	FZD2	ORPHA:3107
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2535	FZD2	ORPHA:93328
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8813	DPM1	OMIM:608799
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8813	DPM1	ORPHA:79322
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8242	KDM5C	OMIM:300534
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6949	TCOF1	OMIM:154500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6949	TCOF1	ORPHA:861
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	546	ATRX	OMIM:309580
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55275	VPS53	OMIM:615851
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7048	TGFBR2	OMIM:610168
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7048	TGFBR2	ORPHA:60030
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	545	ATR	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	545	ATR	OMIM:210600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1062	CENPE	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1062	CENPE	OMIM:616051
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5116	PCNT	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79902	NUP85	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84126	ATRIP	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55835	CENPJ	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10293	TRAIP	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10293	TRAIP	OMIM:616777
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22995	CEP152	ORPHA:808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22995	CEP152	OMIM:613823
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1302	COL11A2	OMIM:614524
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1302	COL11A2	ORPHA:1427
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1302	COL11A2	ORPHA:166100
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1302	COL11A2	OMIM:215150
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9321	TRIP11	ORPHA:93299
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80324	PUS1	ORPHA:2598
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80324	PUS1	OMIM:600462
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51067	YARS2	ORPHA:2598
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64324	NSD1	ORPHA:3447
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8726	EED	ORPHA:3447
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23512	SUZ12	ORPHA:3447
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2146	EZH2	ORPHA:3447
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	28962	OSTM1	OMIM:259720
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79228	THOC6	OMIM:613680
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2303	FOXC2	OMIM:153400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7407	VARS1	OMIM:617802
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	196528	ARID2	OMIM:617808
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8216	LZTR1	OMIM:605275
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8216	LZTR1	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	56052	ALG1	OMIM:608540
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10075	HUWE1	OMIM:309590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10159	ATP6AP2	OMIM:301045
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91949	COG7	OMIM:608779
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91949	COG7	ORPHA:79333
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10735	STAG2	OMIM:301043
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10735	STAG2	OMIM:301022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27238	GPKOW	ORPHA:2570
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22856	CHSY1	ORPHA:363417
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2733	GLE1	ORPHA:1486
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2733	GLE1	OMIM:253310
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2733	GLE1	OMIM:611890
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79650	USB1	OMIM:604173
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4854	NOTCH3	OMIM:130720
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4854	NOTCH3	ORPHA:2789
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84162	BLTP1	OMIM:617822
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23291	FBXW11	OMIM:618914
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10982	MAPRE2	OMIM:616734
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10982	MAPRE2	ORPHA:2505
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2067	ERCC1	ORPHA:1466
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2067	ERCC1	OMIM:610758
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2074	ERCC6	ORPHA:1466
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2074	ERCC6	OMIM:214150
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57211	ADGRG6	OMIM:616503
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	259232	NALCN	OMIM:615419
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	259232	NALCN	OMIM:616266
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	259232	NALCN	ORPHA:1147
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	259232	NALCN	ORPHA:371364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5723	PSPH	ORPHA:79350
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6638	SNRPN	ORPHA:177907
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9343	EFTUD2	ORPHA:79113
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9343	EFTUD2	OMIM:610536
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84172	POLR1B	OMIM:618939
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84172	POLR1B	ORPHA:861
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	760	CA2	ORPHA:2785
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23476	BRD4	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9126	SMC3	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9126	SMC3	OMIM:610759
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5885	RAD21	ORPHA:199
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	157680	VPS13B	ORPHA:193
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	157680	VPS13B	OMIM:216550
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9150	CTDP1	ORPHA:48431
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1859	DYRK1A	OMIM:614104
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1861	TOR1A	OMIM:618947
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	117581	TWIST2	OMIM:209885
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9935	MAFB	ORPHA:2774
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9935	MAFB	ORPHA:233
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9935	MAFB	OMIM:166300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5297	PI4KA	OMIM:616531
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5297	PI4KA	ORPHA:98889
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5297	PI4KA	OMIM:619708
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	112752	IFT43	OMIM:617866
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	112752	IFT43	OMIM:614099
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	113246	C12orf57	OMIM:218340
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84700	MYO18B	OMIM:616549
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4621	MYH3	ORPHA:2990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4621	MYH3	ORPHA:1147
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1146	CHRNG	ORPHA:2990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1146	CHRNG	OMIM:265000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1146	CHRNG	OMIM:253290
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9939	RBM8A	OMIM:274000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9939	RBM8A	ORPHA:3320
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7473	WNT3	OMIM:273395
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7473	WNT3	ORPHA:3301
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4750	NEK1	ORPHA:2751
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25782	RAB3GAP2	ORPHA:2510
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25782	RAB3GAP2	OMIM:212720
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25782	RAB3GAP2	ORPHA:1387
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22931	RAB18	ORPHA:2510
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22931	RAB18	OMIM:614222
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	128637	TBC1D20	ORPHA:2510
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	71	ACTG1	ORPHA:2995
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	60	ACTB	ORPHA:2995
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10210	TOPORS	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9851	KIAA0753	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5147	PDE6D	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	317662	FAM149B1	ORPHA:2754
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55553	SOX6	OMIM:618971
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1806	DPYD	ORPHA:293948
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4281	MID1	ORPHA:2745
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8398	PLA2G6	OMIM:256600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	246329	STAC3	OMIM:255995
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	246329	STAC3	ORPHA:168572
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1278	COL1A2	ORPHA:1899
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1278	COL1A2	OMIM:259420
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1277	COL1A1	ORPHA:1899
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1277	COL1A1	OMIM:259420
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3762	KCNJ5	ORPHA:37553
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2137	EXTL3	ORPHA:508533
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7528	YY1	ORPHA:506358
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7528	YY1	OMIM:617557
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23141	ANKLE2	OMIM:616681
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8294	H4C9	OMIM:619951
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	83932	SPRTN	OMIM:616200
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8425	LTBP4	OMIM:613177
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5830	PEX5	OMIM:214110
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5830	PEX5	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64220	STRA6	OMIM:601186
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9786	KIAA0586	ORPHA:397715
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3020	H3-3A	OMIM:619720
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1723	DHODH	OMIM:263750
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1723	DHODH	ORPHA:246
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	72	ACTG2	ORPHA:2604
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2201	FBN2	OMIM:121050
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	129563	DIS3L2	ORPHA:2849
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	129563	DIS3L2	OMIM:267000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4286	MITF	OMIM:617306
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5189	PEX1	OMIM:214100
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5189	PEX1	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	716	C1S	ORPHA:75392
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	715	C1R	ORPHA:75392
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	25885	POLR1A	OMIM:616462
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4853	NOTCH2	OMIM:102500
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4853	NOTCH2	ORPHA:955
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10381	TUBB3	ORPHA:300570
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4920	ROR2	ORPHA:1507
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4920	ROR2	OMIM:268310
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2626	GATA4	ORPHA:251071
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7020	TFAP2A	OMIM:113620
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	652	BMP4	OMIM:607932
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54872	PIGG	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7469	NELFA	ORPHA:280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22872	SEC31A	OMIM:618651
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4763	NF1	ORPHA:363700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5424	POLD1	OMIM:615381
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57498	KIDINS220	OMIM:619501
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4174	MCM5	OMIM:617564
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57178	ZMIZ1	OMIM:618659
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2783	GNB2	OMIM:619503
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8241	RBM10	OMIM:311900
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8241	RBM10	ORPHA:2886
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57167	SALL4	ORPHA:233
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1123	CHN1	ORPHA:233
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1789	DNMT3B	OMIM:242860
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1789	DNMT3B	ORPHA:2268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54888	NSUN2	ORPHA:235
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1182	CLCN3	OMIM:619512
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	63895	PIEZO2	OMIM:114300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	63895	PIEZO2	OMIM:248700
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	63895	PIEZO2	ORPHA:2461
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54914	FOCAD	OMIM:619991
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55699	IARS2	OMIM:616007
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	286	ANK1	ORPHA:251066
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	145258	GSC	OMIM:602471
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2248	FGF3	OMIM:610706
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2248	FGF3	ORPHA:90024
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54928	BPNT2	OMIM:614078
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	53335	BCL11A	OMIM:617101
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9928	KIF14	OMIM:616258
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2542	SLC37A4	OMIM:619525
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57492	ARID1B	ORPHA:251056
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2556	GABRA3	OMIM:301091
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4626	MYH8	OMIM:158300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57724	EPG5	OMIM:242840
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23162	MAPK8IP3	OMIM:618443
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4123	MAN2C1	OMIM:619775
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8218	CLTCL1	ORPHA:453510
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23219	FBXO28	OMIM:619777
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9496	TBX4	OMIM:147891
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	79087	ALG12	ORPHA:79324
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8295	TRRAP	OMIM:618454
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	81570	CLPB	OMIM:616271
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3763	KCNJ6	OMIM:614098
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3763	KCNJ6	ORPHA:435628
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9533	POLR1C	OMIM:248390
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9533	POLR1C	ORPHA:861
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29968	PSAT1	OMIM:616038
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29968	PSAT1	ORPHA:284417
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	58497	PRUNE1	ORPHA:544469
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5062	PAK2	OMIM:618458
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23013	SPEN	OMIM:619312
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54892	NCAPG2	OMIM:618460
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8506	CNTNAP1	OMIM:616286
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8506	CNTNAP1	OMIM:618186
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	221496	LEMD2	OMIM:619322
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29998	BICRA	OMIM:619325
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23030	KDM4B	OMIM:619320
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1363	CPE	OMIM:619326
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1289	COL5A1	OMIM:619329
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6904	TBCD	ORPHA:496641
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6904	TBCD	OMIM:617193
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	170302	ARX	ORPHA:452
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	170302	ARX	OMIM:300215
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23221	RHOBTB2	OMIM:618004
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10082	GPC6	OMIM:258315
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10082	GPC6	ORPHA:93329
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1147	CHUK	OMIM:619339
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9719	ADAMTSL2	ORPHA:1901
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9509	ADAMTS2	ORPHA:1901
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9509	ADAMTS2	OMIM:225410
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3481	IGF2	OMIM:180860
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3481	IGF2	ORPHA:397590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8091	HMGA2	ORPHA:94063
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8091	HMGA2	ORPHA:397590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23592	LEMD3	ORPHA:94063
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26276	VPS33B	OMIM:208085
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	372	ARCN1	OMIM:617164
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3977	LIFR	OMIM:601559
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5277	PIGA	OMIM:300868
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23384	SPECC1L	OMIM:145420
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9244	CRLF1	OMIM:272430
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9244	CRLF1	ORPHA:1545
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9791	PTDSS1	OMIM:151050
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	80347	COASY	OMIM:618266
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5281	PIGF	OMIM:619356
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51604	PIGT	ORPHA:369837
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	145173	B3GLCT	OMIM:261540
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	145173	B3GLCT	ORPHA:709
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5530	PPP3CA	OMIM:618265
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5530	PPP3CA	OMIM:617711
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2132	EXT2	ORPHA:52022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	60529	ALX4	ORPHA:52022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51317	PHF21A	ORPHA:52022
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23405	DICER1	OMIM:618272
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	285590	SH3PXD2B	OMIM:249420
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51715	RAB23	OMIM:201000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10651	MTX2	OMIM:619127
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29123	ANKRD11	ORPHA:261250
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10220	GDF11	OMIM:619122
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	90416	CCDC32	OMIM:619123
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5080	PAX6	ORPHA:893
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	627	BDNF	ORPHA:893
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7490	WT1	ORPHA:893
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84905	ZNF341	OMIM:618282
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57020	VPS35L	OMIM:619135
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1984	EIF5A	OMIM:619376
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5236	PGM1	OMIM:614921
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3295	HSD17B4	OMIM:261515
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22800	RRAS2	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	867	CBL	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6016	RIT1	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6237	RRAS	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5894	RAF1	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22808	MRAS	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3845	KRAS	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	200734	SPRED2	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4893	NRAS	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6654	SOS1	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6655	SOS2	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5781	PTPN11	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5781	PTPN11	OMIM:163950
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5922	RASA2	ORPHA:648
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23299	BICD2	OMIM:618291
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6913	TBX15	OMIM:260660
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	871	SERPINH1	OMIM:613848
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3480	IGF1R	OMIM:270450
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2690	GHR	ORPHA:633
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	121340	SP7	OMIM:613849
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	83483	PLVAP	OMIM:618183
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10128	LRPPRC	OMIM:220111
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	199857	ALG14	OMIM:619036
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	775	CACNA1C	OMIM:620029
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55624	POMGNT1	OMIM:253280
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8854	ALDH1A2	OMIM:620025
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10274	STAG1	ORPHA:502434
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10992	SF3B2	OMIM:164210
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2629	GBA1	OMIM:608013
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23118	TAB2	ORPHA:228410
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8443	GNPAT	OMIM:222765
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	58	ACTA1	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	58	ACTA1	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	58	ACTA1	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7169	TPM2	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7169	TPM2	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7169	TPM2	ORPHA:1147
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7169	TPM2	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4703	NEB	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4703	NEB	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10324	KLHL41	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10324	KLHL41	OMIM:615731
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10324	KLHL41	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	56203	LMOD3	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1073	CFL2	ORPHA:171436
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	22858	CILK1	OMIM:612651
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3899	AFF3	OMIM:619297
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3483	IGFALS	ORPHA:140941
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	283989	TSEN54	ORPHA:166063
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4633	MYL2	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3679	ITGA7	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9200	HACD1	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7170	TPM3	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7170	TPM3	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51776	MAP3K20	ORPHA:2020
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3070	HELLS	ORPHA:2268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	83879	CDCA7	ORPHA:2268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9841	ZBTB24	ORPHA:2268
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3265	HRAS	OMIM:218040
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5826	ABCD4	OMIM:614857
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26227	PHGDH	OMIM:256520
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2615	LRRC32	OMIM:619074
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1857	DVL3	ORPHA:3107
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1857	DVL3	OMIM:616894
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5828	PEX2	OMIM:614866
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5828	PEX2	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6804	STX1A	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7461	CLIP2	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84277	DNAJC30	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8468	FKBP6	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5982	RFC2	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2969	GTF2I	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3984	LIMK1	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9569	GTF2IRD1	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	155382	VPS37D	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	155368	METTL27	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	114049	BUD23	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7458	EIF4H	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84163	GTF2IRD2	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9275	BCL7B	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26608	TBL2	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	653361	NCF1	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	135886	TMEM270	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51085	MLXIPL	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9031	BAZ1B	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2006	ELN	ORPHA:904
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10290	SPEG	OMIM:615959
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9289	ADGRG1	ORPHA:98889
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27286	SRPX2	ORPHA:98889
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	157570	ESCO2	ORPHA:3103
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	157570	ESCO2	OMIM:268300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55027	HEATR3	OMIM:620072
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10236	HNRNPR	OMIM:620073
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51611	DPH5	OMIM:620070
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5700	PSMC1	OMIM:620071
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	728294	D2HGDH	OMIM:600721
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2138	EYA1	ORPHA:52429
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6495	SIX1	ORPHA:52429
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6628	SNRPB	ORPHA:1393
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6628	SNRPB	OMIM:117650
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5159	PDGFRB	OMIM:601812
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5594	MAPK1	OMIM:619087
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1028	CDKN1C	ORPHA:397590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5324	PLAG1	ORPHA:397590
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2065	ERBB3	OMIM:607598
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23065	EMC1	ORPHA:480898
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23065	EMC1	OMIM:616875
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5295	PIK3R1	OMIM:269880
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	81031	SLC2A10	OMIM:208050
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7140	TNNT3	ORPHA:1147
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8504	PEX3	OMIM:614882
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8504	PEX3	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84665	MYPN	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	390594	KBTBD13	ORPHA:171439
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	50628	GEMIN4	OMIM:617913
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84570	COL25A1	ORPHA:1143
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57222	ERGIC1	ORPHA:1143
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5195	PEX14	OMIM:614887
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5195	PEX14	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4313	MMP2	OMIM:259600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2702	GJA5	OMIM:612474
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2703	GJA8	OMIM:612474
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27152	INTU	OMIM:617925
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1297	COL9A1	ORPHA:250984
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1298	COL9A2	ORPHA:250984
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1299	COL9A3	ORPHA:250984
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84695	LOXL3	ORPHA:250984
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1144	CHRND	OMIM:253290
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6497	SKI	ORPHA:2462
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6497	SKI	OMIM:182212
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55670	PEX26	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5824	PEX19	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8799	PEX11B	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9409	PEX16	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5190	PEX6	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5193	PEX12	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5194	PEX13	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5192	PEX10	ORPHA:912
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4038	LRP4	OMIM:212780
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9780	PIEZO1	OMIM:616843
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4683	NBN	OMIM:251260
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	100151683	RNU4ATAC	OMIM:210710
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	100151683	RNU4ATAC	ORPHA:2636
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	85358	SHANK3	OMIM:606232
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91179	SCARF2	OMIM:600920
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	113179	ADAT3	ORPHA:363528
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10525	HYOU1	OMIM:233600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55784	MCTP2	ORPHA:1596
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	30008	EFEMP2	OMIM:614437
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91869	RFT1	OMIM:612015
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5915	RARB	OMIM:615524
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5053	PAH	ORPHA:2209
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4297	KMT2A	OMIM:605130
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	101929726	MYMX	ORPHA:1358
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	101929726	MYMX	OMIM:619941
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4204	MECP2	OMIM:300055
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10265	IRX5	OMIM:611174
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5925	RB1	ORPHA:1587
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55603	TENT5A	OMIM:617952
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1063	CENPF	OMIM:243605
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	64093	SMOC1	ORPHA:1106
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91647	ATPAF2	OMIM:604273
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5718	PSMD12	ORPHA:529962
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5718	PSMD12	OMIM:617516
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2186	BPTF	ORPHA:529962
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2186	BPTF	OMIM:617755
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	84342	COG8	OMIM:611182
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57572	DOCK6	OMIM:614219
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29980	DONSON	OMIM:251230
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23233	EXOC6B	ORPHA:93359
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	29957	SLC25A24	OMIM:612289
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4659	PPP1R12A	OMIM:618820
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	91461	PKDCC	OMIM:618821
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	285175	UNC80	ORPHA:371364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8405	SPOP	OMIM:618829
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2260	FGFR1	ORPHA:2645
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	202018	TAPT1	OMIM:616897
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7291	TWIST1	OMIM:617746
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2767	GNA11	ORPHA:1556
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	151188	ARL6IP6	ORPHA:1556
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	440	ASNS	OMIM:615574
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	55023	PHIP	OMIM:617991
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3664	IRF6	ORPHA:1300
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7476	WNT7A	ORPHA:2879
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4848	CNOT2	OMIM:618608
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23529	CLCF1	ORPHA:1545
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	221927	BRAT1	OMIM:614498
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6736	SRY	ORPHA:1772
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5290	PIK3CA	OMIM:615108
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	207	AKT1	OMIM:615109
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5604	MAP2K1	OMIM:163950
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	27019	DNAI1	OMIM:244400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4591	TRIM37	OMIM:253250
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	257	ALX3	OMIM:136760
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	257	ALX3	ORPHA:391474
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	175	AGA	OMIM:208400
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1301	COL11A1	ORPHA:560
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	860	RUNX2	OMIM:119600
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6424	SFRP4	OMIM:265900
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2316	FLNA	ORPHA:90650
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2316	FLNA	ORPHA:90652
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3759	KCNJ2	OMIM:170390
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3166	HMX1	OMIM:612109
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10736	SIX2	ORPHA:488437
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2517	FUCA1	OMIM:230000
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5573	PRKAR1A	ORPHA:280651
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5144	PDE4D	ORPHA:280651
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	139285	AMER1	OMIM:300373
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23347	SMCHD1	OMIM:603457
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5332	PLCB4	OMIM:614669
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5332	PLCB4	ORPHA:137888
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1906	EDN1	ORPHA:137888
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2773	GNAI3	ORPHA:137888
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2773	GNAI3	OMIM:602483
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2261	FGFR3	ORPHA:85165
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	26123	TCTN3	ORPHA:2753
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2131	EXT1	ORPHA:502
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7227	TRPS1	ORPHA:502
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8092	ALX1	ORPHA:306542
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5396	PRRX1	OMIM:202650
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5396	PRRX1	ORPHA:990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5015	OTX2	ORPHA:990
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	81620	CDT1	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5000	ORC4	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23594	ORC6	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8318	CDC45	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	990	CDC6	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	4998	ORC1	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	51053	GMNN	ORPHA:2554
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	56975	FAM20C	ORPHA:1832
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	54539	NDUFB11	ORPHA:2556
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1349	COX7B	ORPHA:2556
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	3052	HCCS	ORPHA:2556
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	404672	GTF2H5	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	833	CARS1	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2068	ERCC2	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7737	RNF113A	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	136647	MPLKIP	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6897	TARS1	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2071	ERCC3	ORPHA:33364
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2961	GTF2E2	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	2737	GLI3	ORPHA:672
HP:0009118	Aplasia/Hypoplasia of the mandible	22827	PUF60	ORPHA:508498
HP:0009118	Aplasia/Hypoplasia of the mandible	22827	PUF60	ORPHA:508488
HP:0009118	Aplasia/Hypoplasia of the mandible	57190	SELENON	ORPHA:324604
HP:0009118	Aplasia/Hypoplasia of the mandible	4625	MYH7	ORPHA:324604
HP:0009118	Aplasia/Hypoplasia of the mandible	7273	TTN	ORPHA:324604
HP:0009118	Aplasia/Hypoplasia of the mandible	55906	ZC4H2	OMIM:301041
HP:0009118	Aplasia/Hypoplasia of the mandible	6134	RPL10	OMIM:300998
HP:0009118	Aplasia/Hypoplasia of the mandible	6134	RPL10	ORPHA:459070
HP:0009118	Aplasia/Hypoplasia of the mandible	286053	NSMCE2	OMIM:617253
HP:0009118	Aplasia/Hypoplasia of the mandible	4000	LMNA	OMIM:619793
HP:0009118	Aplasia/Hypoplasia of the mandible	50814	NSDHL	ORPHA:251383
HP:0009118	Aplasia/Hypoplasia of the mandible	9871	SEC24D	OMIM:616294
HP:0009118	Aplasia/Hypoplasia of the mandible	374654	KIF7	OMIM:200990
HP:0009118	Aplasia/Hypoplasia of the mandible	79868	ALG13	OMIM:300884
HP:0009118	Aplasia/Hypoplasia of the mandible	5649	RELN	ORPHA:89844
HP:0009118	Aplasia/Hypoplasia of the mandible	10300	KATNB1	ORPHA:89844
HP:0009118	Aplasia/Hypoplasia of the mandible	54820	NDE1	ORPHA:89844
HP:0009118	Aplasia/Hypoplasia of the mandible	55790	CSGALNACT1	OMIM:618870
HP:0009118	Aplasia/Hypoplasia of the mandible	26224	FBXL3	OMIM:606220
HP:0009118	Aplasia/Hypoplasia of the mandible	4784	NFIX	OMIM:602535
HP:0009118	Aplasia/Hypoplasia of the mandible	84068	SLC10A7	OMIM:618363
HP:0009118	Aplasia/Hypoplasia of the mandible	8260	NAA10	OMIM:300855
HP:0009118	Aplasia/Hypoplasia of the mandible	8260	NAA10	ORPHA:276432
HP:0009118	Aplasia/Hypoplasia of the mandible	113189	CHST14	ORPHA:2953
HP:0009118	Aplasia/Hypoplasia of the mandible	113189	CHST14	OMIM:601776
HP:0009118	Aplasia/Hypoplasia of the mandible	29940	DSE	ORPHA:2953
HP:0009118	Aplasia/Hypoplasia of the mandible	9692	PRORP	OMIM:619737
HP:0009118	Aplasia/Hypoplasia of the mandible	7994	KAT6A	ORPHA:457193
HP:0009118	Aplasia/Hypoplasia of the mandible	7994	KAT6A	OMIM:616268
HP:0009118	Aplasia/Hypoplasia of the mandible	90993	CREB3L1	OMIM:616229
HP:0009118	Aplasia/Hypoplasia of the mandible	9325	TRIP4	OMIM:616866
HP:0009118	Aplasia/Hypoplasia of the mandible	1717	DHCR7	OMIM:270400
HP:0009118	Aplasia/Hypoplasia of the mandible	54968	TMEM70	OMIM:614052
HP:0009118	Aplasia/Hypoplasia of the mandible	1501	CTNND2	ORPHA:281
HP:0009118	Aplasia/Hypoplasia of the mandible	9037	SEMA5A	ORPHA:281
HP:0009118	Aplasia/Hypoplasia of the mandible	23327	NEDD4L	OMIM:617201
HP:0009118	Aplasia/Hypoplasia of the mandible	23545	ATP6V0A2	OMIM:278250
HP:0009118	Aplasia/Hypoplasia of the mandible	9419	CRIPT	OMIM:615789
HP:0009118	Aplasia/Hypoplasia of the mandible	25942	SIN3A	OMIM:613406
HP:0009118	Aplasia/Hypoplasia of the mandible	26005	C2CD3	OMIM:615948
HP:0009118	Aplasia/Hypoplasia of the mandible	26005	C2CD3	ORPHA:434179
HP:0009118	Aplasia/Hypoplasia of the mandible	59336	PRDM13	OMIM:619909
HP:0009118	Aplasia/Hypoplasia of the mandible	10526	IPO8	OMIM:619472
HP:0009118	Aplasia/Hypoplasia of the mandible	340419	RSPO2	OMIM:618021
HP:0009118	Aplasia/Hypoplasia of the mandible	23443	SLC35A3	OMIM:615553
HP:0009118	Aplasia/Hypoplasia of the mandible	9894	TELO2	ORPHA:488642
HP:0009118	Aplasia/Hypoplasia of the mandible	79770	TXNDC15	OMIM:619879
HP:0009118	Aplasia/Hypoplasia of the mandible	25914	RTTN	ORPHA:468631
HP:0009118	Aplasia/Hypoplasia of the mandible	55165	CEP55	OMIM:236500
HP:0009118	Aplasia/Hypoplasia of the mandible	79796	ALG9	ORPHA:79328
HP:0009118	Aplasia/Hypoplasia of the mandible	10682	EBP	OMIM:300960
HP:0009118	Aplasia/Hypoplasia of the mandible	23556	PIGN	ORPHA:280633
HP:0009118	Aplasia/Hypoplasia of the mandible	2571	GAD1	OMIM:619124
HP:0009118	Aplasia/Hypoplasia of the mandible	6872	TAF1	OMIM:300966
HP:0009118	Aplasia/Hypoplasia of the mandible	55617	TASP1	OMIM:618950
HP:0009118	Aplasia/Hypoplasia of the mandible	51305	KCNK9	OMIM:612292
HP:0009118	Aplasia/Hypoplasia of the mandible	5075	PAX1	OMIM:615560
HP:0009118	Aplasia/Hypoplasia of the mandible	8481	OFD1	OMIM:311200
HP:0009118	Aplasia/Hypoplasia of the mandible	60482	SLC5A7	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	4649	MYO9A	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	1305	COL13A1	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	1103	CHAT	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	6576	SLC25A1	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	6843	VAMP1	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	375790	AGRN	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	127833	SYT2	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	6572	SLC18A3	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	6616	SNAP25	ORPHA:98914
HP:0009118	Aplasia/Hypoplasia of the mandible	100506658	OCLN	OMIM:251290
HP:0009118	Aplasia/Hypoplasia of the mandible	55717	WDR11	OMIM:620237
HP:0009118	Aplasia/Hypoplasia of the mandible	124583	CANT1	OMIM:251450
HP:0009118	Aplasia/Hypoplasia of the mandible	7846	TUBA1A	ORPHA:171680
HP:0009118	Aplasia/Hypoplasia of the mandible	342035	GLDN	OMIM:617194
HP:0009118	Aplasia/Hypoplasia of the mandible	153241	CEP120	OMIM:616300
HP:0009118	Aplasia/Hypoplasia of the mandible	8565	YARS1	OMIM:619418
HP:0009118	Aplasia/Hypoplasia of the mandible	8815	BANF1	OMIM:614008
HP:0009118	Aplasia/Hypoplasia of the mandible	51082	POLR1D	OMIM:613717
HP:0009118	Aplasia/Hypoplasia of the mandible	10262	SF3B4	ORPHA:1788
HP:0009118	Aplasia/Hypoplasia of the mandible	9469	CHST3	OMIM:245600
HP:0009118	Aplasia/Hypoplasia of the mandible	26229	B3GAT3	OMIM:245600
HP:0009118	Aplasia/Hypoplasia of the mandible	1280	COL2A1	OMIM:200610
HP:0009118	Aplasia/Hypoplasia of the mandible	11133	KPTN	ORPHA:397612
HP:0009118	Aplasia/Hypoplasia of the mandible	9775	EIF4A3	OMIM:268305
HP:0009118	Aplasia/Hypoplasia of the mandible	26173	INTS1	OMIM:618571
HP:0009118	Aplasia/Hypoplasia of the mandible	1718	DHCR24	OMIM:602398
HP:0009118	Aplasia/Hypoplasia of the mandible	1718	DHCR24	ORPHA:35107
HP:0009118	Aplasia/Hypoplasia of the mandible	4897	NRCAM	OMIM:619833
HP:0009118	Aplasia/Hypoplasia of the mandible	1134	CHRNA1	OMIM:608930
HP:0009118	Aplasia/Hypoplasia of the mandible	1134	CHRNA1	OMIM:253290
HP:0009118	Aplasia/Hypoplasia of the mandible	55209	SETD5	ORPHA:404440
HP:0009118	Aplasia/Hypoplasia of the mandible	55209	SETD5	OMIM:615761
HP:0009118	Aplasia/Hypoplasia of the mandible	2317	FLNB	ORPHA:56305
HP:0009118	Aplasia/Hypoplasia of the mandible	2317	FLNB	ORPHA:1190
HP:0009118	Aplasia/Hypoplasia of the mandible	2317	FLNB	OMIM:108721
HP:0009118	Aplasia/Hypoplasia of the mandible	2317	FLNB	OMIM:108720
HP:0009118	Aplasia/Hypoplasia of the mandible	1836	SLC26A2	ORPHA:56304
HP:0009118	Aplasia/Hypoplasia of the mandible	1836	SLC26A2	OMIM:256050
HP:0009118	Aplasia/Hypoplasia of the mandible	1836	SLC26A2	ORPHA:93298
HP:0009118	Aplasia/Hypoplasia of the mandible	1836	SLC26A2	ORPHA:628
HP:0009118	Aplasia/Hypoplasia of the mandible	1836	SLC26A2	ORPHA:93307
HP:0009118	Aplasia/Hypoplasia of the mandible	6662	SOX9	ORPHA:140
HP:0009118	Aplasia/Hypoplasia of the mandible	6662	SOX9	OMIM:114290
HP:0009118	Aplasia/Hypoplasia of the mandible	6662	SOX9	ORPHA:718
HP:0009118	Aplasia/Hypoplasia of the mandible	5932	RBBP8	OMIM:606744
HP:0009118	Aplasia/Hypoplasia of the mandible	5932	RBBP8	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	2073	ERCC5	OMIM:616570
HP:0009118	Aplasia/Hypoplasia of the mandible	2073	ERCC5	ORPHA:1466
HP:0009118	Aplasia/Hypoplasia of the mandible	9578	CDC42BPB	OMIM:619841
HP:0009118	Aplasia/Hypoplasia of the mandible	80816	ASXL3	OMIM:615485
HP:0009118	Aplasia/Hypoplasia of the mandible	1855	DVL1	OMIM:616331
HP:0009118	Aplasia/Hypoplasia of the mandible	1855	DVL1	OMIM:180700
HP:0009118	Aplasia/Hypoplasia of the mandible	1855	DVL1	ORPHA:3107
HP:0009118	Aplasia/Hypoplasia of the mandible	27245	AHDC1	ORPHA:412069
HP:0009118	Aplasia/Hypoplasia of the mandible	27245	AHDC1	OMIM:615829
HP:0009118	Aplasia/Hypoplasia of the mandible	23426	GRIP1	OMIM:617667
HP:0009118	Aplasia/Hypoplasia of the mandible	5184	PEPD	OMIM:170100
HP:0009118	Aplasia/Hypoplasia of the mandible	5184	PEPD	ORPHA:742
HP:0009118	Aplasia/Hypoplasia of the mandible	10084	PQBP1	ORPHA:93946
HP:0009118	Aplasia/Hypoplasia of the mandible	10084	PQBP1	OMIM:309500
HP:0009118	Aplasia/Hypoplasia of the mandible	57082	KNL1	OMIM:604321
HP:0009118	Aplasia/Hypoplasia of the mandible	79158	GNPTAB	OMIM:252500
HP:0009118	Aplasia/Hypoplasia of the mandible	284403	WDR62	OMIM:604317
HP:0009118	Aplasia/Hypoplasia of the mandible	1513	CTSK	OMIM:265800
HP:0009118	Aplasia/Hypoplasia of the mandible	1513	CTSK	ORPHA:763
HP:0009118	Aplasia/Hypoplasia of the mandible	55154	MSTO1	OMIM:617675
HP:0009118	Aplasia/Hypoplasia of the mandible	55154	MSTO1	ORPHA:502423
HP:0009118	Aplasia/Hypoplasia of the mandible	54453	RIN2	OMIM:613075
HP:0009118	Aplasia/Hypoplasia of the mandible	1020	CDK5	OMIM:616342
HP:0009118	Aplasia/Hypoplasia of the mandible	79029	AFG2B	OMIM:619616
HP:0009118	Aplasia/Hypoplasia of the mandible	64359	NXN	OMIM:618529
HP:0009118	Aplasia/Hypoplasia of the mandible	64359	NXN	ORPHA:1507
HP:0009118	Aplasia/Hypoplasia of the mandible	9968	MED12	ORPHA:93932
HP:0009118	Aplasia/Hypoplasia of the mandible	9968	MED12	ORPHA:776
HP:0009118	Aplasia/Hypoplasia of the mandible	9968	MED12	OMIM:309520
HP:0009118	Aplasia/Hypoplasia of the mandible	9968	MED12	OMIM:305450
HP:0009118	Aplasia/Hypoplasia of the mandible	9968	MED12	OMIM:300895
HP:0009118	Aplasia/Hypoplasia of the mandible	55681	SCYL2	OMIM:618766
HP:0009118	Aplasia/Hypoplasia of the mandible	55681	SCYL2	ORPHA:1143
HP:0009118	Aplasia/Hypoplasia of the mandible	4604	MYBPC1	OMIM:618524
HP:0009118	Aplasia/Hypoplasia of the mandible	5191	PEX7	OMIM:215100
HP:0009118	Aplasia/Hypoplasia of the mandible	3339	HSPG2	ORPHA:1865
HP:0009118	Aplasia/Hypoplasia of the mandible	3339	HSPG2	OMIM:255800
HP:0009118	Aplasia/Hypoplasia of the mandible	3339	HSPG2	OMIM:224410
HP:0009118	Aplasia/Hypoplasia of the mandible	3339	HSPG2	ORPHA:800
HP:0009118	Aplasia/Hypoplasia of the mandible	2697	GJA1	ORPHA:2710
HP:0009118	Aplasia/Hypoplasia of the mandible	2697	GJA1	OMIM:257850
HP:0009118	Aplasia/Hypoplasia of the mandible	9401	RECQL4	OMIM:218600
HP:0009118	Aplasia/Hypoplasia of the mandible	9401	RECQL4	OMIM:268400
HP:0009118	Aplasia/Hypoplasia of the mandible	9401	RECQL4	ORPHA:1225
HP:0009118	Aplasia/Hypoplasia of the mandible	171023	ASXL1	ORPHA:97297
HP:0009118	Aplasia/Hypoplasia of the mandible	171023	ASXL1	OMIM:605039
HP:0009118	Aplasia/Hypoplasia of the mandible	89910	UBE3B	ORPHA:2707
HP:0009118	Aplasia/Hypoplasia of the mandible	89910	UBE3B	OMIM:244450
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	ORPHA:90652
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	ORPHA:1826
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	ORPHA:555877
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	OMIM:309350
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	OMIM:304120
HP:0009118	Aplasia/Hypoplasia of the mandible	2316	FLNA	ORPHA:2484
HP:0009118	Aplasia/Hypoplasia of the mandible	11285	B4GALT7	OMIM:130070
HP:0009118	Aplasia/Hypoplasia of the mandible	26038	CHD5	OMIM:619873
HP:0009118	Aplasia/Hypoplasia of the mandible	5034	P4HB	OMIM:112240
HP:0009118	Aplasia/Hypoplasia of the mandible	5034	P4HB	ORPHA:2050
HP:0009118	Aplasia/Hypoplasia of the mandible	6905	TBCE	OMIM:241410
HP:0009118	Aplasia/Hypoplasia of the mandible	6905	TBCE	ORPHA:2323
HP:0009118	Aplasia/Hypoplasia of the mandible	23126	POGZ	OMIM:616364
HP:0009118	Aplasia/Hypoplasia of the mandible	1909	EDNRA	OMIM:616367
HP:0009118	Aplasia/Hypoplasia of the mandible	9091	PIGQ	OMIM:618548
HP:0009118	Aplasia/Hypoplasia of the mandible	5728	PTEN	ORPHA:109
HP:0009118	Aplasia/Hypoplasia of the mandible	5728	PTEN	OMIM:158350
HP:0009118	Aplasia/Hypoplasia of the mandible	55210	ATAD3A	ORPHA:496790
HP:0009118	Aplasia/Hypoplasia of the mandible	55210	ATAD3A	OMIM:617183
HP:0009118	Aplasia/Hypoplasia of the mandible	55210	ATAD3A	OMIM:618810
HP:0009118	Aplasia/Hypoplasia of the mandible	8818	DPM2	OMIM:615042
HP:0009118	Aplasia/Hypoplasia of the mandible	8818	DPM2	ORPHA:329178
HP:0009118	Aplasia/Hypoplasia of the mandible	4285	MIPEP	OMIM:617228
HP:0009118	Aplasia/Hypoplasia of the mandible	163175	LGI4	OMIM:617468
HP:0009118	Aplasia/Hypoplasia of the mandible	79971	WLS	OMIM:619648
HP:0009118	Aplasia/Hypoplasia of the mandible	79633	FAT4	ORPHA:314679
HP:0009118	Aplasia/Hypoplasia of the mandible	79633	FAT4	OMIM:615546
HP:0009118	Aplasia/Hypoplasia of the mandible	8642	DCHS1	ORPHA:314679
HP:0009118	Aplasia/Hypoplasia of the mandible	8642	DCHS1	OMIM:601390
HP:0009118	Aplasia/Hypoplasia of the mandible	1301	COL11A1	ORPHA:440354
HP:0009118	Aplasia/Hypoplasia of the mandible	1301	COL11A1	ORPHA:560
HP:0009118	Aplasia/Hypoplasia of the mandible	1301	COL11A1	OMIM:154780
HP:0009118	Aplasia/Hypoplasia of the mandible	1301	COL11A1	OMIM:604841
HP:0009118	Aplasia/Hypoplasia of the mandible	1301	COL11A1	ORPHA:250984
HP:0009118	Aplasia/Hypoplasia of the mandible	3930	LBR	OMIM:215140
HP:0009118	Aplasia/Hypoplasia of the mandible	3930	LBR	ORPHA:1426
HP:0009118	Aplasia/Hypoplasia of the mandible	23483	TGDS	OMIM:616145
HP:0009118	Aplasia/Hypoplasia of the mandible	23483	TGDS	ORPHA:1388
HP:0009118	Aplasia/Hypoplasia of the mandible	84168	ANTXR1	OMIM:230740
HP:0009118	Aplasia/Hypoplasia of the mandible	84168	ANTXR1	ORPHA:2067
HP:0009118	Aplasia/Hypoplasia of the mandible	64919	BCL11B	OMIM:617237
HP:0009118	Aplasia/Hypoplasia of the mandible	25836	NIPBL	OMIM:122470
HP:0009118	Aplasia/Hypoplasia of the mandible	25836	NIPBL	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	6885	MAP3K7	ORPHA:1826
HP:0009118	Aplasia/Hypoplasia of the mandible	641	BLM	ORPHA:125
HP:0009118	Aplasia/Hypoplasia of the mandible	6135	RPL11	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6138	RPL15	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6229	RPS24	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6125	RPL5	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6125	RPL5	OMIM:612561
HP:0009118	Aplasia/Hypoplasia of the mandible	6204	RPS10	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6224	RPS20	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6165	RPL35A	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	2623	GATA1	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6223	RPS19	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6223	RPS19	OMIM:105650
HP:0009118	Aplasia/Hypoplasia of the mandible	6232	RPS27	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6231	RPS26	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6231	RPS26	OMIM:613309
HP:0009118	Aplasia/Hypoplasia of the mandible	11224	RPL35	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6160	RPL31	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6218	RPS17	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6201	RPS7	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6155	RPL27	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6154	RPL26	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6210	RPS15A	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	90121	TSR2	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	90121	TSR2	OMIM:300946
HP:0009118	Aplasia/Hypoplasia of the mandible	6141	RPL18	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6235	RPS29	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6234	RPS28	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	6234	RPS28	OMIM:606164
HP:0009118	Aplasia/Hypoplasia of the mandible	51816	ADA2	ORPHA:124
HP:0009118	Aplasia/Hypoplasia of the mandible	25970	SH2B1	ORPHA:261197
HP:0009118	Aplasia/Hypoplasia of the mandible	1387	CREBBP	OMIM:618332
HP:0009118	Aplasia/Hypoplasia of the mandible	1387	CREBBP	OMIM:180849
HP:0009118	Aplasia/Hypoplasia of the mandible	1387	CREBBP	ORPHA:353277
HP:0009118	Aplasia/Hypoplasia of the mandible	2033	EP300	OMIM:618333
HP:0009118	Aplasia/Hypoplasia of the mandible	2033	EP300	OMIM:613684
HP:0009118	Aplasia/Hypoplasia of the mandible	2033	EP300	ORPHA:353284
HP:0009118	Aplasia/Hypoplasia of the mandible	2033	EP300	OMIM:180849
HP:0009118	Aplasia/Hypoplasia of the mandible	9742	IFT140	OMIM:266920
HP:0009118	Aplasia/Hypoplasia of the mandible	5881	RAC3	OMIM:618577
HP:0009118	Aplasia/Hypoplasia of the mandible	54101	RIPK4	OMIM:263650
HP:0009118	Aplasia/Hypoplasia of the mandible	54101	RIPK4	ORPHA:1234
HP:0009118	Aplasia/Hypoplasia of the mandible	9427	ECEL1	OMIM:615065
HP:0009118	Aplasia/Hypoplasia of the mandible	7046	TGFBR1	OMIM:609192
HP:0009118	Aplasia/Hypoplasia of the mandible	7046	TGFBR1	ORPHA:60030
HP:0009118	Aplasia/Hypoplasia of the mandible	5426	POLE	OMIM:618336
HP:0009118	Aplasia/Hypoplasia of the mandible	5081	PAX7	OMIM:618578
HP:0009118	Aplasia/Hypoplasia of the mandible	389827	MYMK	OMIM:254940
HP:0009118	Aplasia/Hypoplasia of the mandible	389827	MYMK	ORPHA:1358
HP:0009118	Aplasia/Hypoplasia of the mandible	5813	PURA	ORPHA:314655
HP:0009118	Aplasia/Hypoplasia of the mandible	9949	AMMECR1	OMIM:300990
HP:0009118	Aplasia/Hypoplasia of the mandible	3479	IGF1	ORPHA:73272
HP:0009118	Aplasia/Hypoplasia of the mandible	3479	IGF1	OMIM:608747
HP:0009118	Aplasia/Hypoplasia of the mandible	4921	DDR2	OMIM:271665
HP:0009118	Aplasia/Hypoplasia of the mandible	9488	PIGB	OMIM:618580
HP:0009118	Aplasia/Hypoplasia of the mandible	1281	COL3A1	OMIM:618343
HP:0009118	Aplasia/Hypoplasia of the mandible	1281	COL3A1	ORPHA:2500
HP:0009118	Aplasia/Hypoplasia of the mandible	54517	PUS7	OMIM:618342
HP:0009118	Aplasia/Hypoplasia of the mandible	8573	CASK	OMIM:300749
HP:0009118	Aplasia/Hypoplasia of the mandible	8573	CASK	ORPHA:163937
HP:0009118	Aplasia/Hypoplasia of the mandible	79912	PYROXD1	OMIM:617258
HP:0009118	Aplasia/Hypoplasia of the mandible	1798	DPAGT1	OMIM:608093
HP:0009118	Aplasia/Hypoplasia of the mandible	57122	NUP107	OMIM:618348
HP:0009118	Aplasia/Hypoplasia of the mandible	57122	NUP107	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	57122	NUP107	OMIM:616730
HP:0009118	Aplasia/Hypoplasia of the mandible	2200	FBN1	ORPHA:284979
HP:0009118	Aplasia/Hypoplasia of the mandible	2200	FBN1	OMIM:154700
HP:0009118	Aplasia/Hypoplasia of the mandible	2200	FBN1	ORPHA:2462
HP:0009118	Aplasia/Hypoplasia of the mandible	27125	AFF4	ORPHA:444077
HP:0009118	Aplasia/Hypoplasia of the mandible	10733	PLK4	OMIM:616171
HP:0009118	Aplasia/Hypoplasia of the mandible	10733	PLK4	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	2972	BRF1	ORPHA:444072
HP:0009118	Aplasia/Hypoplasia of the mandible	91754	NEK9	OMIM:617022
HP:0009118	Aplasia/Hypoplasia of the mandible	23114	NFASC	OMIM:618356
HP:0009118	Aplasia/Hypoplasia of the mandible	6492	SIM1	ORPHA:171829
HP:0009118	Aplasia/Hypoplasia of the mandible	51114	ZDHHC9	ORPHA:776
HP:0009118	Aplasia/Hypoplasia of the mandible	65109	UPF3B	ORPHA:776
HP:0009118	Aplasia/Hypoplasia of the mandible	4952	OCRL	ORPHA:534
HP:0009118	Aplasia/Hypoplasia of the mandible	29954	POMT2	OMIM:236670
HP:0009118	Aplasia/Hypoplasia of the mandible	9215	LARGE1	OMIM:236670
HP:0009118	Aplasia/Hypoplasia of the mandible	79147	FKRP	OMIM:236670
HP:0009118	Aplasia/Hypoplasia of the mandible	10585	POMT1	OMIM:236670
HP:0009118	Aplasia/Hypoplasia of the mandible	2218	FKTN	OMIM:236670
HP:0009118	Aplasia/Hypoplasia of the mandible	473	RERE	ORPHA:494344
HP:0009118	Aplasia/Hypoplasia of the mandible	473	RERE	OMIM:616975
HP:0009118	Aplasia/Hypoplasia of the mandible	55777	MBD5	OMIM:156200
HP:0009118	Aplasia/Hypoplasia of the mandible	5980	REV3L	ORPHA:570
HP:0009118	Aplasia/Hypoplasia of the mandible	23129	PLXND1	ORPHA:570
HP:0009118	Aplasia/Hypoplasia of the mandible	3039	HBA1	ORPHA:98791
HP:0009118	Aplasia/Hypoplasia of the mandible	3040	HBA2	ORPHA:98791
HP:0009118	Aplasia/Hypoplasia of the mandible	51132	RLIM	OMIM:300978
HP:0009118	Aplasia/Hypoplasia of the mandible	63925	ZNF335	OMIM:615095
HP:0009118	Aplasia/Hypoplasia of the mandible	22930	RAB3GAP1	OMIM:600118
HP:0009118	Aplasia/Hypoplasia of the mandible	22930	RAB3GAP1	ORPHA:2510
HP:0009118	Aplasia/Hypoplasia of the mandible	22930	RAB3GAP1	ORPHA:1387
HP:0009118	Aplasia/Hypoplasia of the mandible	51434	ANAPC7	OMIM:619699
HP:0009118	Aplasia/Hypoplasia of the mandible	92255	LMBRD2	OMIM:619694
HP:0009118	Aplasia/Hypoplasia of the mandible	7468	NSD2	OMIM:619695
HP:0009118	Aplasia/Hypoplasia of the mandible	7468	NSD2	OMIM:194190
HP:0009118	Aplasia/Hypoplasia of the mandible	7468	NSD2	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	201163	FLCN	OMIM:610883
HP:0009118	Aplasia/Hypoplasia of the mandible	1312	COMT	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	221037	JMJD1C	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	2812	GP1BB	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	6239	RREB1	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	6899	TBX1	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	6899	TBX1	ORPHA:1727
HP:0009118	Aplasia/Hypoplasia of the mandible	6899	TBX1	OMIM:188400
HP:0009118	Aplasia/Hypoplasia of the mandible	7290	HIRA	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	9632	SEC24C	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	7353	UFD1	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	421	ARVCF	ORPHA:567
HP:0009118	Aplasia/Hypoplasia of the mandible	7136	TNNI2	OMIM:601680
HP:0009118	Aplasia/Hypoplasia of the mandible	7136	TNNI2	ORPHA:1147
HP:0009118	Aplasia/Hypoplasia of the mandible	538	ATP7A	ORPHA:565
HP:0009118	Aplasia/Hypoplasia of the mandible	84314	TMEM107	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	84314	TMEM107	OMIM:617562
HP:0009118	Aplasia/Hypoplasia of the mandible	79867	TCTN2	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	80776	B9D2	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	79600	TCTN1	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	57096	RPGRIP1	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	79848	CSPP1	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	79848	CSPP1	ORPHA:397715
HP:0009118	Aplasia/Hypoplasia of the mandible	80184	CEP290	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	51259	TMEM216	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	51259	TMEM216	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	57545	CC2D2A	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	79583	TMEM231	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	91147	TMEM67	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	27077	B9D1	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	23322	RPGRIP1L	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	54903	MKS1	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	54903	MKS1	OMIM:249000
HP:0009118	Aplasia/Hypoplasia of the mandible	65062	TMEM237	ORPHA:564
HP:0009118	Aplasia/Hypoplasia of the mandible	7317	UBA1	OMIM:301830
HP:0009118	Aplasia/Hypoplasia of the mandible	3188	HNRNPH2	OMIM:300986
HP:0009118	Aplasia/Hypoplasia of the mandible	4613	MYCN	OMIM:164280
HP:0009118	Aplasia/Hypoplasia of the mandible	4613	MYCN	ORPHA:391641
HP:0009118	Aplasia/Hypoplasia of the mandible	26040	SETBP1	ORPHA:798
HP:0009118	Aplasia/Hypoplasia of the mandible	4927	NUP88	ORPHA:994
HP:0009118	Aplasia/Hypoplasia of the mandible	4927	NUP88	OMIM:618393
HP:0009118	Aplasia/Hypoplasia of the mandible	4654	MYOD1	ORPHA:994
HP:0009118	Aplasia/Hypoplasia of the mandible	4593	MUSK	ORPHA:994
HP:0009118	Aplasia/Hypoplasia of the mandible	4593	MUSK	OMIM:208150
HP:0009118	Aplasia/Hypoplasia of the mandible	5913	RAPSN	ORPHA:994
HP:0009118	Aplasia/Hypoplasia of the mandible	5913	RAPSN	OMIM:618388
HP:0009118	Aplasia/Hypoplasia of the mandible	285489	DOK7	ORPHA:994
HP:0009118	Aplasia/Hypoplasia of the mandible	285489	DOK7	OMIM:618389
HP:0009118	Aplasia/Hypoplasia of the mandible	50801	KCNK4	OMIM:618381
HP:0009118	Aplasia/Hypoplasia of the mandible	65250	CPLANE1	OMIM:277170
HP:0009118	Aplasia/Hypoplasia of the mandible	65250	CPLANE1	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	134218	DNAJC21	OMIM:617052
HP:0009118	Aplasia/Hypoplasia of the mandible	57061	HYMAI	ORPHA:96191
HP:0009118	Aplasia/Hypoplasia of the mandible	5325	PLAGL1	ORPHA:96191
HP:0009118	Aplasia/Hypoplasia of the mandible	348180	CTU2	OMIM:618142
HP:0009118	Aplasia/Hypoplasia of the mandible	6608	SMO	OMIM:241800
HP:0009118	Aplasia/Hypoplasia of the mandible	80036	TRPM3	OMIM:620224
HP:0009118	Aplasia/Hypoplasia of the mandible	10283	CWC27	ORPHA:166035
HP:0009118	Aplasia/Hypoplasia of the mandible	10283	CWC27	OMIM:250410
HP:0009118	Aplasia/Hypoplasia of the mandible	388015	RTL1	ORPHA:96184
HP:0009118	Aplasia/Hypoplasia of the mandible	388015	RTL1	ORPHA:96334
HP:0009118	Aplasia/Hypoplasia of the mandible	388015	RTL1	ORPHA:254531
HP:0009118	Aplasia/Hypoplasia of the mandible	388015	RTL1	ORPHA:254525
HP:0009118	Aplasia/Hypoplasia of the mandible	8788	DLK1	ORPHA:96184
HP:0009118	Aplasia/Hypoplasia of the mandible	8788	DLK1	ORPHA:96334
HP:0009118	Aplasia/Hypoplasia of the mandible	8788	DLK1	ORPHA:254531
HP:0009118	Aplasia/Hypoplasia of the mandible	8788	DLK1	ORPHA:254525
HP:0009118	Aplasia/Hypoplasia of the mandible	55384	MEG3	ORPHA:96184
HP:0009118	Aplasia/Hypoplasia of the mandible	55384	MEG3	ORPHA:96334
HP:0009118	Aplasia/Hypoplasia of the mandible	55384	MEG3	ORPHA:254531
HP:0009118	Aplasia/Hypoplasia of the mandible	55384	MEG3	ORPHA:254525
HP:0009118	Aplasia/Hypoplasia of the mandible	2887	GRB10	ORPHA:96182
HP:0009118	Aplasia/Hypoplasia of the mandible	25839	COG4	OMIM:618150
HP:0009118	Aplasia/Hypoplasia of the mandible	10269	ZMPSTE24	ORPHA:740
HP:0009118	Aplasia/Hypoplasia of the mandible	10269	ZMPSTE24	ORPHA:90154
HP:0009118	Aplasia/Hypoplasia of the mandible	10269	ZMPSTE24	ORPHA:1662
HP:0009118	Aplasia/Hypoplasia of the mandible	10269	ZMPSTE24	OMIM:608612
HP:0009118	Aplasia/Hypoplasia of the mandible	10269	ZMPSTE24	OMIM:275210
HP:0009118	Aplasia/Hypoplasia of the mandible	1457	CSNK2A1	OMIM:617062
HP:0009118	Aplasia/Hypoplasia of the mandible	7204	TRIO	OMIM:617061
HP:0009118	Aplasia/Hypoplasia of the mandible	7204	TRIO	ORPHA:476126
HP:0009118	Aplasia/Hypoplasia of the mandible	2222	FDFT1	OMIM:618156
HP:0009118	Aplasia/Hypoplasia of the mandible	203068	TUBB	OMIM:156610
HP:0009118	Aplasia/Hypoplasia of the mandible	203068	TUBB	ORPHA:2505
HP:0009118	Aplasia/Hypoplasia of the mandible	374879	ZNF699	OMIM:619488
HP:0009118	Aplasia/Hypoplasia of the mandible	8567	MADD	OMIM:619005
HP:0009118	Aplasia/Hypoplasia of the mandible	55640	FLVCR2	OMIM:225790
HP:0009118	Aplasia/Hypoplasia of the mandible	23112	TNRC6B	OMIM:619243
HP:0009118	Aplasia/Hypoplasia of the mandible	9373	PLAA	ORPHA:521426
HP:0009118	Aplasia/Hypoplasia of the mandible	9373	PLAA	OMIM:617527
HP:0009118	Aplasia/Hypoplasia of the mandible	93587	TRMT10A	ORPHA:391408
HP:0009118	Aplasia/Hypoplasia of the mandible	84919	PPP1R15B	ORPHA:391408
HP:0009118	Aplasia/Hypoplasia of the mandible	84919	PPP1R15B	OMIM:616817
HP:0009118	Aplasia/Hypoplasia of the mandible	199221	DZIP1L	ORPHA:731
HP:0009118	Aplasia/Hypoplasia of the mandible	5314	PKHD1	ORPHA:731
HP:0009118	Aplasia/Hypoplasia of the mandible	60386	SLC25A19	OMIM:607196
HP:0009118	Aplasia/Hypoplasia of the mandible	60386	SLC25A19	ORPHA:99742
HP:0009118	Aplasia/Hypoplasia of the mandible	126792	B3GALT6	OMIM:271640
HP:0009118	Aplasia/Hypoplasia of the mandible	126792	B3GALT6	OMIM:609465
HP:0009118	Aplasia/Hypoplasia of the mandible	126792	B3GALT6	ORPHA:93359
HP:0009118	Aplasia/Hypoplasia of the mandible	126792	B3GALT6	ORPHA:536467
HP:0009118	Aplasia/Hypoplasia of the mandible	10436	EMG1	OMIM:211180
HP:0009118	Aplasia/Hypoplasia of the mandible	10436	EMG1	ORPHA:1270
HP:0009118	Aplasia/Hypoplasia of the mandible	5745	PTH1R	OMIM:156400
HP:0009118	Aplasia/Hypoplasia of the mandible	5745	PTH1R	OMIM:215045
HP:0009118	Aplasia/Hypoplasia of the mandible	5745	PTH1R	ORPHA:50945
HP:0009118	Aplasia/Hypoplasia of the mandible	6748	SSR4	OMIM:300934
HP:0009118	Aplasia/Hypoplasia of the mandible	84464	SLX4	OMIM:613951
HP:0009118	Aplasia/Hypoplasia of the mandible	84464	SLX4	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	5557	PRIM1	OMIM:620005
HP:0009118	Aplasia/Hypoplasia of the mandible	219844	HYLS1	OMIM:236680
HP:0009118	Aplasia/Hypoplasia of the mandible	219844	HYLS1	ORPHA:2189
HP:0009118	Aplasia/Hypoplasia of the mandible	7474	WNT5A	OMIM:180700
HP:0009118	Aplasia/Hypoplasia of the mandible	7474	WNT5A	ORPHA:3107
HP:0009118	Aplasia/Hypoplasia of the mandible	2801	GOLGA2	OMIM:620240
HP:0009118	Aplasia/Hypoplasia of the mandible	9897	WASHC5	ORPHA:7
HP:0009118	Aplasia/Hypoplasia of the mandible	9897	WASHC5	OMIM:220210
HP:0009118	Aplasia/Hypoplasia of the mandible	28952	CCDC22	ORPHA:7
HP:0009118	Aplasia/Hypoplasia of the mandible	114034	TOE1	ORPHA:284339
HP:0009118	Aplasia/Hypoplasia of the mandible	114034	TOE1	OMIM:614969
HP:0009118	Aplasia/Hypoplasia of the mandible	9562	MINPP1	ORPHA:284339
HP:0009118	Aplasia/Hypoplasia of the mandible	55181	SMG8	OMIM:619268
HP:0009118	Aplasia/Hypoplasia of the mandible	51109	RDH11	ORPHA:436245
HP:0009118	Aplasia/Hypoplasia of the mandible	51002	TPRKB	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	84942	WDR73	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	84942	WDR73	OMIM:251300
HP:0009118	Aplasia/Hypoplasia of the mandible	55644	OSGEP	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	55644	OSGEP	OMIM:617729
HP:0009118	Aplasia/Hypoplasia of the mandible	10785	WDR4	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	55746	NUP133	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	112858	TP53RK	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	8270	LAGE3	ORPHA:2065
HP:0009118	Aplasia/Hypoplasia of the mandible	8270	LAGE3	OMIM:301006
HP:0009118	Aplasia/Hypoplasia of the mandible	8085	KMT2D	OMIM:147920
HP:0009118	Aplasia/Hypoplasia of the mandible	8085	KMT2D	OMIM:620186
HP:0009118	Aplasia/Hypoplasia of the mandible	7403	KDM6A	OMIM:147920
HP:0009118	Aplasia/Hypoplasia of the mandible	7403	KDM6A	OMIM:300867
HP:0009118	Aplasia/Hypoplasia of the mandible	168667	BMPER	OMIM:608022
HP:0009118	Aplasia/Hypoplasia of the mandible	8243	SMC1A	OMIM:300590
HP:0009118	Aplasia/Hypoplasia of the mandible	8243	SMC1A	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	2294	FOXF1	OMIM:265380
HP:0009118	Aplasia/Hypoplasia of the mandible	324	APC	ORPHA:261584
HP:0009118	Aplasia/Hypoplasia of the mandible	6309	SC5D	ORPHA:46059
HP:0009118	Aplasia/Hypoplasia of the mandible	6309	SC5D	OMIM:607330
HP:0009118	Aplasia/Hypoplasia of the mandible	161742	SPRED1	OMIM:611431
HP:0009118	Aplasia/Hypoplasia of the mandible	673	BRAF	OMIM:115150
HP:0009118	Aplasia/Hypoplasia of the mandible	673	BRAF	OMIM:163950
HP:0009118	Aplasia/Hypoplasia of the mandible	57539	WDR35	OMIM:613610
HP:0009118	Aplasia/Hypoplasia of the mandible	57539	WDR35	ORPHA:93271
HP:0009118	Aplasia/Hypoplasia of the mandible	7518	XRCC4	ORPHA:99812
HP:0009118	Aplasia/Hypoplasia of the mandible	7518	XRCC4	ORPHA:436182
HP:0009118	Aplasia/Hypoplasia of the mandible	3981	LIG4	ORPHA:99812
HP:0009118	Aplasia/Hypoplasia of the mandible	3981	LIG4	ORPHA:235
HP:0009118	Aplasia/Hypoplasia of the mandible	1303	COL12A1	ORPHA:75840
HP:0009118	Aplasia/Hypoplasia of the mandible	1303	COL12A1	ORPHA:536516
HP:0009118	Aplasia/Hypoplasia of the mandible	1291	COL6A1	ORPHA:75840
HP:0009118	Aplasia/Hypoplasia of the mandible	1292	COL6A2	ORPHA:75840
HP:0009118	Aplasia/Hypoplasia of the mandible	1293	COL6A3	ORPHA:75840
HP:0009118	Aplasia/Hypoplasia of the mandible	55112	DYNC2I1	ORPHA:93271
HP:0009118	Aplasia/Hypoplasia of the mandible	57560	IFT80	ORPHA:93271
HP:0009118	Aplasia/Hypoplasia of the mandible	79659	DYNC2H1	ORPHA:93271
HP:0009118	Aplasia/Hypoplasia of the mandible	89891	DYNC2I2	ORPHA:93271
HP:0009118	Aplasia/Hypoplasia of the mandible	80232	WDR26	ORPHA:513456
HP:0009118	Aplasia/Hypoplasia of the mandible	80232	WDR26	OMIM:617616
HP:0009118	Aplasia/Hypoplasia of the mandible	2314	FLII	ORPHA:819
HP:0009118	Aplasia/Hypoplasia of the mandible	23096	IQSEC2	ORPHA:819
HP:0009118	Aplasia/Hypoplasia of the mandible	23096	IQSEC2	ORPHA:397933
HP:0009118	Aplasia/Hypoplasia of the mandible	10743	RAI1	ORPHA:819
HP:0009118	Aplasia/Hypoplasia of the mandible	10743	RAI1	ORPHA:1713
HP:0009118	Aplasia/Hypoplasia of the mandible	10522	DEAF1	ORPHA:819
HP:0009118	Aplasia/Hypoplasia of the mandible	5818	NECTIN1	ORPHA:3253
HP:0009118	Aplasia/Hypoplasia of the mandible	29072	SETD2	OMIM:620157
HP:0009118	Aplasia/Hypoplasia of the mandible	29072	SETD2	OMIM:620155
HP:0009118	Aplasia/Hypoplasia of the mandible	55780	ERMARD	ORPHA:75857
HP:0009118	Aplasia/Hypoplasia of the mandible	10225	CD96	OMIM:211750
HP:0009118	Aplasia/Hypoplasia of the mandible	10225	CD96	ORPHA:1308
HP:0009118	Aplasia/Hypoplasia of the mandible	26153	KIF26A	OMIM:620156
HP:0009118	Aplasia/Hypoplasia of the mandible	9382	COG1	OMIM:611209
HP:0009118	Aplasia/Hypoplasia of the mandible	9382	COG1	ORPHA:263508
HP:0009118	Aplasia/Hypoplasia of the mandible	1763	DNA2	OMIM:615807
HP:0009118	Aplasia/Hypoplasia of the mandible	25778	DSTYK	OMIM:270750
HP:0009118	Aplasia/Hypoplasia of the mandible	84992	PIGY	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	84720	PIGO	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	93210	PGAP3	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	284098	PIGW	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	27315	PGAP2	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	55650	PIGV	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	9487	PIGL	ORPHA:247262
HP:0009118	Aplasia/Hypoplasia of the mandible	23522	KAT6B	OMIM:606170
HP:0009118	Aplasia/Hypoplasia of the mandible	23522	KAT6B	ORPHA:85201
HP:0009118	Aplasia/Hypoplasia of the mandible	23522	KAT6B	OMIM:603736
HP:0009118	Aplasia/Hypoplasia of the mandible	23522	KAT6B	ORPHA:3047
HP:0009118	Aplasia/Hypoplasia of the mandible	1801	DPH1	OMIM:616901
HP:0009118	Aplasia/Hypoplasia of the mandible	1801	DPH1	ORPHA:459061
HP:0009118	Aplasia/Hypoplasia of the mandible	672	BRCA1	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	10459	MAD2L2	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	7516	XRCC2	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	29089	UBE2T	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	675	BRCA2	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	55120	FANCL	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	55120	FANCL	OMIM:614083
HP:0009118	Aplasia/Hypoplasia of the mandible	2177	FANCD2	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2175	FANCA	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2187	FANCB	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2187	FANCB	ORPHA:3412
HP:0009118	Aplasia/Hypoplasia of the mandible	2176	FANCC	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2178	FANCE	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2188	FANCF	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2189	FANCG	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	5888	RAD51	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	5889	RAD51C	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	55159	RFWD3	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	83990	BRIP1	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	57697	FANCM	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	79728	PALB2	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	2072	ERCC4	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	55215	FANCI	ORPHA:84
HP:0009118	Aplasia/Hypoplasia of the mandible	9896	FIG4	ORPHA:3472
HP:0009118	Aplasia/Hypoplasia of the mandible	9896	FIG4	OMIM:216340
HP:0009118	Aplasia/Hypoplasia of the mandible	55697	VAC14	ORPHA:3472
HP:0009118	Aplasia/Hypoplasia of the mandible	9184	BUB3	ORPHA:1052
HP:0009118	Aplasia/Hypoplasia of the mandible	699	BUB1	ORPHA:1052
HP:0009118	Aplasia/Hypoplasia of the mandible	9702	CEP57	ORPHA:1052
HP:0009118	Aplasia/Hypoplasia of the mandible	9702	CEP57	OMIM:614114
HP:0009118	Aplasia/Hypoplasia of the mandible	9319	TRIP13	ORPHA:1052
HP:0009118	Aplasia/Hypoplasia of the mandible	701	BUB1B	ORPHA:1052
HP:0009118	Aplasia/Hypoplasia of the mandible	701	BUB1B	OMIM:257300
HP:0009118	Aplasia/Hypoplasia of the mandible	23036	ZNF292	OMIM:619188
HP:0009118	Aplasia/Hypoplasia of the mandible	23314	SATB2	OMIM:612313
HP:0009118	Aplasia/Hypoplasia of the mandible	23314	SATB2	ORPHA:576283
HP:0009118	Aplasia/Hypoplasia of the mandible	23314	SATB2	ORPHA:251028
HP:0009118	Aplasia/Hypoplasia of the mandible	23314	SATB2	ORPHA:251019
HP:0009118	Aplasia/Hypoplasia of the mandible	55636	CHD7	OMIM:214800
HP:0009118	Aplasia/Hypoplasia of the mandible	526	ATP6V1B2	ORPHA:3473
HP:0009118	Aplasia/Hypoplasia of the mandible	3756	KCNH1	ORPHA:3473
HP:0009118	Aplasia/Hypoplasia of the mandible	3782	KCNN3	ORPHA:3473
HP:0009118	Aplasia/Hypoplasia of the mandible	53834	FGFRL1	OMIM:194190
HP:0009118	Aplasia/Hypoplasia of the mandible	1487	CTBP1	OMIM:194190
HP:0009118	Aplasia/Hypoplasia of the mandible	1487	CTBP1	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	3954	LETM1	OMIM:194190
HP:0009118	Aplasia/Hypoplasia of the mandible	3954	LETM1	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	3954	LETM1	OMIM:620089
HP:0009118	Aplasia/Hypoplasia of the mandible	10815	CPLX1	OMIM:194190
HP:0009118	Aplasia/Hypoplasia of the mandible	10815	CPLX1	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	165	AEBP1	ORPHA:536532
HP:0009118	Aplasia/Hypoplasia of the mandible	165	AEBP1	OMIM:618000
HP:0009118	Aplasia/Hypoplasia of the mandible	3425	IDUA	OMIM:607015
HP:0009118	Aplasia/Hypoplasia of the mandible	3192	HNRNPU	ORPHA:238769
HP:0009118	Aplasia/Hypoplasia of the mandible	26053	AUTS2	OMIM:615834
HP:0009118	Aplasia/Hypoplasia of the mandible	26053	AUTS2	ORPHA:352490
HP:0009118	Aplasia/Hypoplasia of the mandible	10013	HDAC6	ORPHA:163966
HP:0009118	Aplasia/Hypoplasia of the mandible	79753	SNIP1	OMIM:614501
HP:0009118	Aplasia/Hypoplasia of the mandible	3211	HOXB1	OMIM:614744
HP:0009118	Aplasia/Hypoplasia of the mandible	54499	TMCO1	OMIM:213980
HP:0009118	Aplasia/Hypoplasia of the mandible	11128	POLR3A	OMIM:264090
HP:0009118	Aplasia/Hypoplasia of the mandible	23137	SMC5	OMIM:620185
HP:0009118	Aplasia/Hypoplasia of the mandible	10907	TXNL4A	OMIM:608572
HP:0009118	Aplasia/Hypoplasia of the mandible	79759	ZNF668	OMIM:620194
HP:0009118	Aplasia/Hypoplasia of the mandible	57459	GATAD2B	ORPHA:363686
HP:0009118	Aplasia/Hypoplasia of the mandible	6473	SHOX	OMIM:249700
HP:0009118	Aplasia/Hypoplasia of the mandible	6473	SHOX	ORPHA:314795
HP:0009118	Aplasia/Hypoplasia of the mandible	81887	LAS1L	ORPHA:3459
HP:0009118	Aplasia/Hypoplasia of the mandible	55869	HDAC8	ORPHA:3459
HP:0009118	Aplasia/Hypoplasia of the mandible	55869	HDAC8	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	55869	HDAC8	OMIM:300882
HP:0009118	Aplasia/Hypoplasia of the mandible	23261	CAMTA1	OMIM:614756
HP:0009118	Aplasia/Hypoplasia of the mandible	10472	ZBTB18	OMIM:612337
HP:0009118	Aplasia/Hypoplasia of the mandible	10472	ZBTB18	ORPHA:36367
HP:0009118	Aplasia/Hypoplasia of the mandible	2263	FGFR2	ORPHA:2363
HP:0009118	Aplasia/Hypoplasia of the mandible	2263	FGFR2	OMIM:614592
HP:0009118	Aplasia/Hypoplasia of the mandible	2263	FGFR2	ORPHA:313855
HP:0009118	Aplasia/Hypoplasia of the mandible	2255	FGF10	ORPHA:2363
HP:0009118	Aplasia/Hypoplasia of the mandible	2535	FZD2	OMIM:164745
HP:0009118	Aplasia/Hypoplasia of the mandible	2535	FZD2	ORPHA:3107
HP:0009118	Aplasia/Hypoplasia of the mandible	2535	FZD2	ORPHA:93328
HP:0009118	Aplasia/Hypoplasia of the mandible	8813	DPM1	OMIM:608799
HP:0009118	Aplasia/Hypoplasia of the mandible	8813	DPM1	ORPHA:79322
HP:0009118	Aplasia/Hypoplasia of the mandible	8242	KDM5C	OMIM:300534
HP:0009118	Aplasia/Hypoplasia of the mandible	6949	TCOF1	OMIM:154500
HP:0009118	Aplasia/Hypoplasia of the mandible	6949	TCOF1	ORPHA:861
HP:0009118	Aplasia/Hypoplasia of the mandible	546	ATRX	OMIM:309580
HP:0009118	Aplasia/Hypoplasia of the mandible	55275	VPS53	OMIM:615851
HP:0009118	Aplasia/Hypoplasia of the mandible	7048	TGFBR2	OMIM:610168
HP:0009118	Aplasia/Hypoplasia of the mandible	7048	TGFBR2	ORPHA:60030
HP:0009118	Aplasia/Hypoplasia of the mandible	545	ATR	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	545	ATR	OMIM:210600
HP:0009118	Aplasia/Hypoplasia of the mandible	1062	CENPE	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	1062	CENPE	OMIM:616051
HP:0009118	Aplasia/Hypoplasia of the mandible	5116	PCNT	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	79902	NUP85	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	84126	ATRIP	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	55835	CENPJ	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	10293	TRAIP	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	10293	TRAIP	OMIM:616777
HP:0009118	Aplasia/Hypoplasia of the mandible	22995	CEP152	ORPHA:808
HP:0009118	Aplasia/Hypoplasia of the mandible	22995	CEP152	OMIM:613823
HP:0009118	Aplasia/Hypoplasia of the mandible	1302	COL11A2	OMIM:614524
HP:0009118	Aplasia/Hypoplasia of the mandible	1302	COL11A2	ORPHA:1427
HP:0009118	Aplasia/Hypoplasia of the mandible	1302	COL11A2	ORPHA:166100
HP:0009118	Aplasia/Hypoplasia of the mandible	1302	COL11A2	OMIM:215150
HP:0009118	Aplasia/Hypoplasia of the mandible	9321	TRIP11	ORPHA:93299
HP:0009118	Aplasia/Hypoplasia of the mandible	80324	PUS1	ORPHA:2598
HP:0009118	Aplasia/Hypoplasia of the mandible	80324	PUS1	OMIM:600462
HP:0009118	Aplasia/Hypoplasia of the mandible	51067	YARS2	ORPHA:2598
HP:0009118	Aplasia/Hypoplasia of the mandible	64324	NSD1	ORPHA:3447
HP:0009118	Aplasia/Hypoplasia of the mandible	8726	EED	ORPHA:3447
HP:0009118	Aplasia/Hypoplasia of the mandible	23512	SUZ12	ORPHA:3447
HP:0009118	Aplasia/Hypoplasia of the mandible	2146	EZH2	ORPHA:3447
HP:0009118	Aplasia/Hypoplasia of the mandible	28962	OSTM1	OMIM:259720
HP:0009118	Aplasia/Hypoplasia of the mandible	79228	THOC6	OMIM:613680
HP:0009118	Aplasia/Hypoplasia of the mandible	2303	FOXC2	OMIM:153400
HP:0009118	Aplasia/Hypoplasia of the mandible	7407	VARS1	OMIM:617802
HP:0009118	Aplasia/Hypoplasia of the mandible	196528	ARID2	OMIM:617808
HP:0009118	Aplasia/Hypoplasia of the mandible	8216	LZTR1	OMIM:605275
HP:0009118	Aplasia/Hypoplasia of the mandible	8216	LZTR1	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	56052	ALG1	OMIM:608540
HP:0009118	Aplasia/Hypoplasia of the mandible	10075	HUWE1	OMIM:309590
HP:0009118	Aplasia/Hypoplasia of the mandible	10159	ATP6AP2	OMIM:301045
HP:0009118	Aplasia/Hypoplasia of the mandible	91949	COG7	OMIM:608779
HP:0009118	Aplasia/Hypoplasia of the mandible	91949	COG7	ORPHA:79333
HP:0009118	Aplasia/Hypoplasia of the mandible	10735	STAG2	OMIM:301043
HP:0009118	Aplasia/Hypoplasia of the mandible	10735	STAG2	OMIM:301022
HP:0009118	Aplasia/Hypoplasia of the mandible	27238	GPKOW	ORPHA:2570
HP:0009118	Aplasia/Hypoplasia of the mandible	22856	CHSY1	ORPHA:363417
HP:0009118	Aplasia/Hypoplasia of the mandible	2733	GLE1	ORPHA:1486
HP:0009118	Aplasia/Hypoplasia of the mandible	2733	GLE1	OMIM:253310
HP:0009118	Aplasia/Hypoplasia of the mandible	2733	GLE1	OMIM:611890
HP:0009118	Aplasia/Hypoplasia of the mandible	79650	USB1	OMIM:604173
HP:0009118	Aplasia/Hypoplasia of the mandible	4854	NOTCH3	OMIM:130720
HP:0009118	Aplasia/Hypoplasia of the mandible	4854	NOTCH3	ORPHA:2789
HP:0009118	Aplasia/Hypoplasia of the mandible	84162	BLTP1	OMIM:617822
HP:0009118	Aplasia/Hypoplasia of the mandible	23291	FBXW11	OMIM:618914
HP:0009118	Aplasia/Hypoplasia of the mandible	10982	MAPRE2	OMIM:616734
HP:0009118	Aplasia/Hypoplasia of the mandible	10982	MAPRE2	ORPHA:2505
HP:0009118	Aplasia/Hypoplasia of the mandible	2067	ERCC1	ORPHA:1466
HP:0009118	Aplasia/Hypoplasia of the mandible	2067	ERCC1	OMIM:610758
HP:0009118	Aplasia/Hypoplasia of the mandible	2074	ERCC6	ORPHA:1466
HP:0009118	Aplasia/Hypoplasia of the mandible	2074	ERCC6	OMIM:214150
HP:0009118	Aplasia/Hypoplasia of the mandible	57211	ADGRG6	OMIM:616503
HP:0009118	Aplasia/Hypoplasia of the mandible	259232	NALCN	OMIM:615419
HP:0009118	Aplasia/Hypoplasia of the mandible	259232	NALCN	OMIM:616266
HP:0009118	Aplasia/Hypoplasia of the mandible	259232	NALCN	ORPHA:1147
HP:0009118	Aplasia/Hypoplasia of the mandible	259232	NALCN	ORPHA:371364
HP:0009118	Aplasia/Hypoplasia of the mandible	860	RUNX2	ORPHA:1452
HP:0009118	Aplasia/Hypoplasia of the mandible	860	RUNX2	OMIM:119600
HP:0009118	Aplasia/Hypoplasia of the mandible	5723	PSPH	ORPHA:79350
HP:0009118	Aplasia/Hypoplasia of the mandible	139285	AMER1	ORPHA:2780
HP:0009118	Aplasia/Hypoplasia of the mandible	139285	AMER1	OMIM:300373
HP:0009118	Aplasia/Hypoplasia of the mandible	6638	SNRPN	ORPHA:177907
HP:0009118	Aplasia/Hypoplasia of the mandible	9343	EFTUD2	ORPHA:79113
HP:0009118	Aplasia/Hypoplasia of the mandible	9343	EFTUD2	OMIM:610536
HP:0009118	Aplasia/Hypoplasia of the mandible	84172	POLR1B	OMIM:618939
HP:0009118	Aplasia/Hypoplasia of the mandible	84172	POLR1B	ORPHA:861
HP:0009118	Aplasia/Hypoplasia of the mandible	760	CA2	ORPHA:2785
HP:0009118	Aplasia/Hypoplasia of the mandible	23476	BRD4	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	9126	SMC3	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	9126	SMC3	OMIM:610759
HP:0009118	Aplasia/Hypoplasia of the mandible	5885	RAD21	ORPHA:199
HP:0009118	Aplasia/Hypoplasia of the mandible	157680	VPS13B	ORPHA:193
HP:0009118	Aplasia/Hypoplasia of the mandible	157680	VPS13B	OMIM:216550
HP:0009118	Aplasia/Hypoplasia of the mandible	9150	CTDP1	ORPHA:48431
HP:0009118	Aplasia/Hypoplasia of the mandible	1859	DYRK1A	OMIM:614104
HP:0009118	Aplasia/Hypoplasia of the mandible	1861	TOR1A	OMIM:618947
HP:0009118	Aplasia/Hypoplasia of the mandible	117581	TWIST2	OMIM:209885
HP:0009118	Aplasia/Hypoplasia of the mandible	9935	MAFB	ORPHA:2774
HP:0009118	Aplasia/Hypoplasia of the mandible	9935	MAFB	ORPHA:233
HP:0009118	Aplasia/Hypoplasia of the mandible	9935	MAFB	OMIM:166300
HP:0009118	Aplasia/Hypoplasia of the mandible	5297	PI4KA	OMIM:616531
HP:0009118	Aplasia/Hypoplasia of the mandible	5297	PI4KA	ORPHA:98889
HP:0009118	Aplasia/Hypoplasia of the mandible	5297	PI4KA	OMIM:619708
HP:0009118	Aplasia/Hypoplasia of the mandible	112752	IFT43	OMIM:617866
HP:0009118	Aplasia/Hypoplasia of the mandible	112752	IFT43	OMIM:614099
HP:0009118	Aplasia/Hypoplasia of the mandible	113246	C12orf57	OMIM:218340
HP:0009118	Aplasia/Hypoplasia of the mandible	84700	MYO18B	OMIM:616549
HP:0009118	Aplasia/Hypoplasia of the mandible	4621	MYH3	ORPHA:2990
HP:0009118	Aplasia/Hypoplasia of the mandible	4621	MYH3	ORPHA:1147
HP:0009118	Aplasia/Hypoplasia of the mandible	1146	CHRNG	ORPHA:2990
HP:0009118	Aplasia/Hypoplasia of the mandible	1146	CHRNG	OMIM:265000
HP:0009118	Aplasia/Hypoplasia of the mandible	1146	CHRNG	OMIM:253290
HP:0009118	Aplasia/Hypoplasia of the mandible	9939	RBM8A	OMIM:274000
HP:0009118	Aplasia/Hypoplasia of the mandible	9939	RBM8A	ORPHA:3320
HP:0009118	Aplasia/Hypoplasia of the mandible	7473	WNT3	OMIM:273395
HP:0009118	Aplasia/Hypoplasia of the mandible	7473	WNT3	ORPHA:3301
HP:0009118	Aplasia/Hypoplasia of the mandible	4750	NEK1	ORPHA:2751
HP:0009118	Aplasia/Hypoplasia of the mandible	25782	RAB3GAP2	ORPHA:2510
HP:0009118	Aplasia/Hypoplasia of the mandible	25782	RAB3GAP2	OMIM:212720
HP:0009118	Aplasia/Hypoplasia of the mandible	25782	RAB3GAP2	ORPHA:1387
HP:0009118	Aplasia/Hypoplasia of the mandible	22931	RAB18	ORPHA:2510
HP:0009118	Aplasia/Hypoplasia of the mandible	22931	RAB18	OMIM:614222
HP:0009118	Aplasia/Hypoplasia of the mandible	128637	TBC1D20	ORPHA:2510
HP:0009118	Aplasia/Hypoplasia of the mandible	71	ACTG1	ORPHA:2995
HP:0009118	Aplasia/Hypoplasia of the mandible	60	ACTB	ORPHA:2995
HP:0009118	Aplasia/Hypoplasia of the mandible	10210	TOPORS	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	9851	KIAA0753	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	5147	PDE6D	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	317662	FAM149B1	ORPHA:2754
HP:0009118	Aplasia/Hypoplasia of the mandible	55553	SOX6	OMIM:618971
HP:0009118	Aplasia/Hypoplasia of the mandible	1806	DPYD	ORPHA:293948
HP:0009118	Aplasia/Hypoplasia of the mandible	4281	MID1	ORPHA:2745
HP:0009118	Aplasia/Hypoplasia of the mandible	8398	PLA2G6	OMIM:256600
HP:0009118	Aplasia/Hypoplasia of the mandible	246329	STAC3	OMIM:255995
HP:0009118	Aplasia/Hypoplasia of the mandible	246329	STAC3	ORPHA:168572
HP:0009118	Aplasia/Hypoplasia of the mandible	1278	COL1A2	ORPHA:1899
HP:0009118	Aplasia/Hypoplasia of the mandible	1278	COL1A2	OMIM:259420
HP:0009118	Aplasia/Hypoplasia of the mandible	1277	COL1A1	ORPHA:1899
HP:0009118	Aplasia/Hypoplasia of the mandible	1277	COL1A1	OMIM:259420
HP:0009118	Aplasia/Hypoplasia of the mandible	3762	KCNJ5	ORPHA:37553
HP:0009118	Aplasia/Hypoplasia of the mandible	2137	EXTL3	ORPHA:508533
HP:0009118	Aplasia/Hypoplasia of the mandible	7528	YY1	ORPHA:506358
HP:0009118	Aplasia/Hypoplasia of the mandible	7528	YY1	OMIM:617557
HP:0009118	Aplasia/Hypoplasia of the mandible	23141	ANKLE2	OMIM:616681
HP:0009118	Aplasia/Hypoplasia of the mandible	8294	H4C9	OMIM:619951
HP:0009118	Aplasia/Hypoplasia of the mandible	83932	SPRTN	OMIM:616200
HP:0009118	Aplasia/Hypoplasia of the mandible	8425	LTBP4	OMIM:613177
HP:0009118	Aplasia/Hypoplasia of the mandible	5830	PEX5	OMIM:214110
HP:0009118	Aplasia/Hypoplasia of the mandible	5830	PEX5	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	64220	STRA6	OMIM:601186
HP:0009118	Aplasia/Hypoplasia of the mandible	9786	KIAA0586	ORPHA:397715
HP:0009118	Aplasia/Hypoplasia of the mandible	3020	H3-3A	OMIM:619720
HP:0009118	Aplasia/Hypoplasia of the mandible	1723	DHODH	OMIM:263750
HP:0009118	Aplasia/Hypoplasia of the mandible	1723	DHODH	ORPHA:246
HP:0009118	Aplasia/Hypoplasia of the mandible	72	ACTG2	ORPHA:2604
HP:0009118	Aplasia/Hypoplasia of the mandible	2201	FBN2	OMIM:121050
HP:0009118	Aplasia/Hypoplasia of the mandible	129563	DIS3L2	ORPHA:2849
HP:0009118	Aplasia/Hypoplasia of the mandible	129563	DIS3L2	OMIM:267000
HP:0009118	Aplasia/Hypoplasia of the mandible	4286	MITF	OMIM:617306
HP:0009118	Aplasia/Hypoplasia of the mandible	5189	PEX1	OMIM:214100
HP:0009118	Aplasia/Hypoplasia of the mandible	5189	PEX1	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	716	C1S	ORPHA:75392
HP:0009118	Aplasia/Hypoplasia of the mandible	715	C1R	ORPHA:75392
HP:0009118	Aplasia/Hypoplasia of the mandible	25885	POLR1A	OMIM:616462
HP:0009118	Aplasia/Hypoplasia of the mandible	4853	NOTCH2	OMIM:102500
HP:0009118	Aplasia/Hypoplasia of the mandible	4853	NOTCH2	ORPHA:955
HP:0009118	Aplasia/Hypoplasia of the mandible	10381	TUBB3	ORPHA:300570
HP:0009118	Aplasia/Hypoplasia of the mandible	4920	ROR2	ORPHA:1507
HP:0009118	Aplasia/Hypoplasia of the mandible	4920	ROR2	OMIM:268310
HP:0009118	Aplasia/Hypoplasia of the mandible	2626	GATA4	ORPHA:251071
HP:0009118	Aplasia/Hypoplasia of the mandible	7020	TFAP2A	OMIM:113620
HP:0009118	Aplasia/Hypoplasia of the mandible	652	BMP4	OMIM:607932
HP:0009118	Aplasia/Hypoplasia of the mandible	54872	PIGG	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	7469	NELFA	ORPHA:280
HP:0009118	Aplasia/Hypoplasia of the mandible	22872	SEC31A	OMIM:618651
HP:0009118	Aplasia/Hypoplasia of the mandible	4763	NF1	ORPHA:363700
HP:0009118	Aplasia/Hypoplasia of the mandible	5424	POLD1	OMIM:615381
HP:0009118	Aplasia/Hypoplasia of the mandible	57498	KIDINS220	OMIM:619501
HP:0009118	Aplasia/Hypoplasia of the mandible	4174	MCM5	OMIM:617564
HP:0009118	Aplasia/Hypoplasia of the mandible	57178	ZMIZ1	OMIM:618659
HP:0009118	Aplasia/Hypoplasia of the mandible	2783	GNB2	OMIM:619503
HP:0009118	Aplasia/Hypoplasia of the mandible	8241	RBM10	OMIM:311900
HP:0009118	Aplasia/Hypoplasia of the mandible	8241	RBM10	ORPHA:2886
HP:0009118	Aplasia/Hypoplasia of the mandible	57167	SALL4	ORPHA:233
HP:0009118	Aplasia/Hypoplasia of the mandible	1123	CHN1	ORPHA:233
HP:0009118	Aplasia/Hypoplasia of the mandible	1789	DNMT3B	OMIM:242860
HP:0009118	Aplasia/Hypoplasia of the mandible	1789	DNMT3B	ORPHA:2268
HP:0009118	Aplasia/Hypoplasia of the mandible	54888	NSUN2	ORPHA:235
HP:0009118	Aplasia/Hypoplasia of the mandible	1182	CLCN3	OMIM:619512
HP:0009118	Aplasia/Hypoplasia of the mandible	63895	PIEZO2	OMIM:114300
HP:0009118	Aplasia/Hypoplasia of the mandible	63895	PIEZO2	OMIM:248700
HP:0009118	Aplasia/Hypoplasia of the mandible	63895	PIEZO2	ORPHA:2461
HP:0009118	Aplasia/Hypoplasia of the mandible	54914	FOCAD	OMIM:619991
HP:0009118	Aplasia/Hypoplasia of the mandible	55699	IARS2	OMIM:616007
HP:0009118	Aplasia/Hypoplasia of the mandible	286	ANK1	ORPHA:251066
HP:0009118	Aplasia/Hypoplasia of the mandible	145258	GSC	OMIM:602471
HP:0009118	Aplasia/Hypoplasia of the mandible	2248	FGF3	OMIM:610706
HP:0009118	Aplasia/Hypoplasia of the mandible	2248	FGF3	ORPHA:90024
HP:0009118	Aplasia/Hypoplasia of the mandible	54928	BPNT2	OMIM:614078
HP:0009118	Aplasia/Hypoplasia of the mandible	53335	BCL11A	OMIM:617101
HP:0009118	Aplasia/Hypoplasia of the mandible	9928	KIF14	OMIM:616258
HP:0009118	Aplasia/Hypoplasia of the mandible	2542	SLC37A4	OMIM:619525
HP:0009118	Aplasia/Hypoplasia of the mandible	57492	ARID1B	ORPHA:251056
HP:0009118	Aplasia/Hypoplasia of the mandible	2556	GABRA3	OMIM:301091
HP:0009118	Aplasia/Hypoplasia of the mandible	4626	MYH8	OMIM:158300
HP:0009118	Aplasia/Hypoplasia of the mandible	57724	EPG5	OMIM:242840
HP:0009118	Aplasia/Hypoplasia of the mandible	23162	MAPK8IP3	OMIM:618443
HP:0009118	Aplasia/Hypoplasia of the mandible	4123	MAN2C1	OMIM:619775
HP:0009118	Aplasia/Hypoplasia of the mandible	8218	CLTCL1	ORPHA:453510
HP:0009118	Aplasia/Hypoplasia of the mandible	23219	FBXO28	OMIM:619777
HP:0009118	Aplasia/Hypoplasia of the mandible	9496	TBX4	OMIM:147891
HP:0009118	Aplasia/Hypoplasia of the mandible	79087	ALG12	ORPHA:79324
HP:0009118	Aplasia/Hypoplasia of the mandible	8295	TRRAP	OMIM:618454
HP:0009118	Aplasia/Hypoplasia of the mandible	81570	CLPB	OMIM:616271
HP:0009118	Aplasia/Hypoplasia of the mandible	3763	KCNJ6	OMIM:614098
HP:0009118	Aplasia/Hypoplasia of the mandible	3763	KCNJ6	ORPHA:435628
HP:0009118	Aplasia/Hypoplasia of the mandible	9533	POLR1C	OMIM:248390
HP:0009118	Aplasia/Hypoplasia of the mandible	9533	POLR1C	ORPHA:861
HP:0009118	Aplasia/Hypoplasia of the mandible	29968	PSAT1	OMIM:616038
HP:0009118	Aplasia/Hypoplasia of the mandible	29968	PSAT1	ORPHA:284417
HP:0009118	Aplasia/Hypoplasia of the mandible	58497	PRUNE1	ORPHA:544469
HP:0009118	Aplasia/Hypoplasia of the mandible	5062	PAK2	OMIM:618458
HP:0009118	Aplasia/Hypoplasia of the mandible	23013	SPEN	OMIM:619312
HP:0009118	Aplasia/Hypoplasia of the mandible	54892	NCAPG2	OMIM:618460
HP:0009118	Aplasia/Hypoplasia of the mandible	8506	CNTNAP1	OMIM:616286
HP:0009118	Aplasia/Hypoplasia of the mandible	8506	CNTNAP1	OMIM:618186
HP:0009118	Aplasia/Hypoplasia of the mandible	221496	LEMD2	OMIM:619322
HP:0009118	Aplasia/Hypoplasia of the mandible	29998	BICRA	OMIM:619325
HP:0009118	Aplasia/Hypoplasia of the mandible	23030	KDM4B	OMIM:619320
HP:0009118	Aplasia/Hypoplasia of the mandible	1363	CPE	OMIM:619326
HP:0009118	Aplasia/Hypoplasia of the mandible	1289	COL5A1	OMIM:619329
HP:0009118	Aplasia/Hypoplasia of the mandible	6904	TBCD	ORPHA:496641
HP:0009118	Aplasia/Hypoplasia of the mandible	6904	TBCD	OMIM:617193
HP:0009118	Aplasia/Hypoplasia of the mandible	170302	ARX	ORPHA:452
HP:0009118	Aplasia/Hypoplasia of the mandible	170302	ARX	OMIM:300215
HP:0009118	Aplasia/Hypoplasia of the mandible	23221	RHOBTB2	OMIM:618004
HP:0009118	Aplasia/Hypoplasia of the mandible	10082	GPC6	OMIM:258315
HP:0009118	Aplasia/Hypoplasia of the mandible	10082	GPC6	ORPHA:93329
HP:0009118	Aplasia/Hypoplasia of the mandible	1147	CHUK	OMIM:619339
HP:0009118	Aplasia/Hypoplasia of the mandible	9719	ADAMTSL2	ORPHA:1901
HP:0009118	Aplasia/Hypoplasia of the mandible	9509	ADAMTS2	ORPHA:1901
HP:0009118	Aplasia/Hypoplasia of the mandible	9509	ADAMTS2	OMIM:225410
HP:0009118	Aplasia/Hypoplasia of the mandible	3481	IGF2	OMIM:180860
HP:0009118	Aplasia/Hypoplasia of the mandible	3481	IGF2	ORPHA:397590
HP:0009118	Aplasia/Hypoplasia of the mandible	8091	HMGA2	ORPHA:94063
HP:0009118	Aplasia/Hypoplasia of the mandible	8091	HMGA2	ORPHA:397590
HP:0009118	Aplasia/Hypoplasia of the mandible	23592	LEMD3	ORPHA:94063
HP:0009118	Aplasia/Hypoplasia of the mandible	26276	VPS33B	OMIM:208085
HP:0009118	Aplasia/Hypoplasia of the mandible	372	ARCN1	OMIM:617164
HP:0009118	Aplasia/Hypoplasia of the mandible	3977	LIFR	OMIM:601559
HP:0009118	Aplasia/Hypoplasia of the mandible	5277	PIGA	OMIM:300868
HP:0009118	Aplasia/Hypoplasia of the mandible	5144	PDE4D	ORPHA:439822
HP:0009118	Aplasia/Hypoplasia of the mandible	23384	SPECC1L	OMIM:145420
HP:0009118	Aplasia/Hypoplasia of the mandible	9244	CRLF1	OMIM:272430
HP:0009118	Aplasia/Hypoplasia of the mandible	9244	CRLF1	ORPHA:1545
HP:0009118	Aplasia/Hypoplasia of the mandible	9791	PTDSS1	OMIM:151050
HP:0009118	Aplasia/Hypoplasia of the mandible	80347	COASY	OMIM:618266
HP:0009118	Aplasia/Hypoplasia of the mandible	5281	PIGF	OMIM:619356
HP:0009118	Aplasia/Hypoplasia of the mandible	51604	PIGT	ORPHA:369837
HP:0009118	Aplasia/Hypoplasia of the mandible	145173	B3GLCT	OMIM:261540
HP:0009118	Aplasia/Hypoplasia of the mandible	145173	B3GLCT	ORPHA:709
HP:0009118	Aplasia/Hypoplasia of the mandible	5530	PPP3CA	OMIM:618265
HP:0009118	Aplasia/Hypoplasia of the mandible	5530	PPP3CA	OMIM:617711
HP:0009118	Aplasia/Hypoplasia of the mandible	2132	EXT2	ORPHA:52022
HP:0009118	Aplasia/Hypoplasia of the mandible	60529	ALX4	ORPHA:52022
HP:0009118	Aplasia/Hypoplasia of the mandible	51317	PHF21A	ORPHA:52022
HP:0009118	Aplasia/Hypoplasia of the mandible	23405	DICER1	OMIM:618272
HP:0009118	Aplasia/Hypoplasia of the mandible	285590	SH3PXD2B	OMIM:249420
HP:0009118	Aplasia/Hypoplasia of the mandible	51715	RAB23	OMIM:201000
HP:0009118	Aplasia/Hypoplasia of the mandible	10651	MTX2	OMIM:619127
HP:0009118	Aplasia/Hypoplasia of the mandible	29123	ANKRD11	ORPHA:261250
HP:0009118	Aplasia/Hypoplasia of the mandible	10220	GDF11	OMIM:619122
HP:0009118	Aplasia/Hypoplasia of the mandible	90416	CCDC32	OMIM:619123
HP:0009118	Aplasia/Hypoplasia of the mandible	5080	PAX6	ORPHA:893
HP:0009118	Aplasia/Hypoplasia of the mandible	627	BDNF	ORPHA:893
HP:0009118	Aplasia/Hypoplasia of the mandible	7490	WT1	ORPHA:893
HP:0009118	Aplasia/Hypoplasia of the mandible	84905	ZNF341	OMIM:618282
HP:0009118	Aplasia/Hypoplasia of the mandible	57020	VPS35L	OMIM:619135
HP:0009118	Aplasia/Hypoplasia of the mandible	1984	EIF5A	OMIM:619376
HP:0009118	Aplasia/Hypoplasia of the mandible	5236	PGM1	OMIM:614921
HP:0009118	Aplasia/Hypoplasia of the mandible	3295	HSD17B4	OMIM:261515
HP:0009118	Aplasia/Hypoplasia of the mandible	22800	RRAS2	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	867	CBL	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	6016	RIT1	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	6237	RRAS	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	5894	RAF1	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	22808	MRAS	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	3845	KRAS	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	200734	SPRED2	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	4893	NRAS	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	6654	SOS1	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	6655	SOS2	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	5781	PTPN11	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	5781	PTPN11	OMIM:163950
HP:0009118	Aplasia/Hypoplasia of the mandible	5922	RASA2	ORPHA:648
HP:0009118	Aplasia/Hypoplasia of the mandible	23299	BICD2	OMIM:618291
HP:0009118	Aplasia/Hypoplasia of the mandible	6913	TBX15	OMIM:260660
HP:0009118	Aplasia/Hypoplasia of the mandible	871	SERPINH1	OMIM:613848
HP:0009118	Aplasia/Hypoplasia of the mandible	3480	IGF1R	OMIM:270450
HP:0009118	Aplasia/Hypoplasia of the mandible	2690	GHR	ORPHA:633
HP:0009118	Aplasia/Hypoplasia of the mandible	121340	SP7	OMIM:613849
HP:0009118	Aplasia/Hypoplasia of the mandible	83483	PLVAP	OMIM:618183
HP:0009118	Aplasia/Hypoplasia of the mandible	10128	LRPPRC	OMIM:220111
HP:0009118	Aplasia/Hypoplasia of the mandible	199857	ALG14	OMIM:619036
HP:0009118	Aplasia/Hypoplasia of the mandible	775	CACNA1C	OMIM:620029
HP:0009118	Aplasia/Hypoplasia of the mandible	55624	POMGNT1	OMIM:253280
HP:0009118	Aplasia/Hypoplasia of the mandible	8854	ALDH1A2	OMIM:620025
HP:0009118	Aplasia/Hypoplasia of the mandible	10274	STAG1	ORPHA:502434
HP:0009118	Aplasia/Hypoplasia of the mandible	10992	SF3B2	OMIM:164210
HP:0009118	Aplasia/Hypoplasia of the mandible	2629	GBA1	OMIM:608013
HP:0009118	Aplasia/Hypoplasia of the mandible	23118	TAB2	ORPHA:228410
HP:0009118	Aplasia/Hypoplasia of the mandible	8443	GNPAT	OMIM:222765
HP:0009118	Aplasia/Hypoplasia of the mandible	58	ACTA1	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	58	ACTA1	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	58	ACTA1	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	7169	TPM2	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	7169	TPM2	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	7169	TPM2	ORPHA:1147
HP:0009118	Aplasia/Hypoplasia of the mandible	7169	TPM2	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	4703	NEB	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	4703	NEB	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	10324	KLHL41	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	10324	KLHL41	OMIM:615731
HP:0009118	Aplasia/Hypoplasia of the mandible	10324	KLHL41	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	56203	LMOD3	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	1073	CFL2	ORPHA:171436
HP:0009118	Aplasia/Hypoplasia of the mandible	22858	CILK1	OMIM:612651
HP:0009118	Aplasia/Hypoplasia of the mandible	3899	AFF3	OMIM:619297
HP:0009118	Aplasia/Hypoplasia of the mandible	3483	IGFALS	ORPHA:140941
HP:0009118	Aplasia/Hypoplasia of the mandible	283989	TSEN54	ORPHA:166063
HP:0009118	Aplasia/Hypoplasia of the mandible	4633	MYL2	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	3679	ITGA7	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	9200	HACD1	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	7170	TPM3	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	7170	TPM3	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	51776	MAP3K20	ORPHA:2020
HP:0009118	Aplasia/Hypoplasia of the mandible	3070	HELLS	ORPHA:2268
HP:0009118	Aplasia/Hypoplasia of the mandible	83879	CDCA7	ORPHA:2268
HP:0009118	Aplasia/Hypoplasia of the mandible	9841	ZBTB24	ORPHA:2268
HP:0009118	Aplasia/Hypoplasia of the mandible	3265	HRAS	OMIM:218040
HP:0009118	Aplasia/Hypoplasia of the mandible	5826	ABCD4	OMIM:614857
HP:0009118	Aplasia/Hypoplasia of the mandible	26227	PHGDH	OMIM:256520
HP:0009118	Aplasia/Hypoplasia of the mandible	2615	LRRC32	OMIM:619074
HP:0009118	Aplasia/Hypoplasia of the mandible	1857	DVL3	ORPHA:3107
HP:0009118	Aplasia/Hypoplasia of the mandible	1857	DVL3	OMIM:616894
HP:0009118	Aplasia/Hypoplasia of the mandible	5828	PEX2	OMIM:614866
HP:0009118	Aplasia/Hypoplasia of the mandible	5828	PEX2	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	6804	STX1A	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	7461	CLIP2	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	84277	DNAJC30	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	8468	FKBP6	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	5982	RFC2	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	2969	GTF2I	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	3984	LIMK1	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	9569	GTF2IRD1	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	155382	VPS37D	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	155368	METTL27	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	114049	BUD23	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	7458	EIF4H	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	84163	GTF2IRD2	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	9275	BCL7B	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	26608	TBL2	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	653361	NCF1	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	135886	TMEM270	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	51085	MLXIPL	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	9031	BAZ1B	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	2006	ELN	ORPHA:904
HP:0009118	Aplasia/Hypoplasia of the mandible	10290	SPEG	OMIM:615959
HP:0009118	Aplasia/Hypoplasia of the mandible	9289	ADGRG1	ORPHA:98889
HP:0009118	Aplasia/Hypoplasia of the mandible	27286	SRPX2	ORPHA:98889
HP:0009118	Aplasia/Hypoplasia of the mandible	157570	ESCO2	ORPHA:3103
HP:0009118	Aplasia/Hypoplasia of the mandible	157570	ESCO2	OMIM:268300
HP:0009118	Aplasia/Hypoplasia of the mandible	55027	HEATR3	OMIM:620072
HP:0009118	Aplasia/Hypoplasia of the mandible	10236	HNRNPR	OMIM:620073
HP:0009118	Aplasia/Hypoplasia of the mandible	51611	DPH5	OMIM:620070
HP:0009118	Aplasia/Hypoplasia of the mandible	5700	PSMC1	OMIM:620071
HP:0009118	Aplasia/Hypoplasia of the mandible	728294	D2HGDH	OMIM:600721
HP:0009118	Aplasia/Hypoplasia of the mandible	2138	EYA1	ORPHA:52429
HP:0009118	Aplasia/Hypoplasia of the mandible	6495	SIX1	ORPHA:52429
HP:0009118	Aplasia/Hypoplasia of the mandible	6628	SNRPB	ORPHA:1393
HP:0009118	Aplasia/Hypoplasia of the mandible	6628	SNRPB	OMIM:117650
HP:0009118	Aplasia/Hypoplasia of the mandible	5159	PDGFRB	OMIM:601812
HP:0009118	Aplasia/Hypoplasia of the mandible	5594	MAPK1	OMIM:619087
HP:0009118	Aplasia/Hypoplasia of the mandible	1028	CDKN1C	ORPHA:397590
HP:0009118	Aplasia/Hypoplasia of the mandible	5324	PLAG1	ORPHA:397590
HP:0009118	Aplasia/Hypoplasia of the mandible	2065	ERBB3	OMIM:607598
HP:0009118	Aplasia/Hypoplasia of the mandible	23065	EMC1	ORPHA:480898
HP:0009118	Aplasia/Hypoplasia of the mandible	23065	EMC1	OMIM:616875
HP:0009118	Aplasia/Hypoplasia of the mandible	5295	PIK3R1	OMIM:269880
HP:0009118	Aplasia/Hypoplasia of the mandible	81031	SLC2A10	OMIM:208050
HP:0009118	Aplasia/Hypoplasia of the mandible	7140	TNNT3	ORPHA:1147
HP:0009118	Aplasia/Hypoplasia of the mandible	8504	PEX3	OMIM:614882
HP:0009118	Aplasia/Hypoplasia of the mandible	8504	PEX3	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	84665	MYPN	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	390594	KBTBD13	ORPHA:171439
HP:0009118	Aplasia/Hypoplasia of the mandible	50628	GEMIN4	OMIM:617913
HP:0009118	Aplasia/Hypoplasia of the mandible	84570	COL25A1	ORPHA:1143
HP:0009118	Aplasia/Hypoplasia of the mandible	57222	ERGIC1	ORPHA:1143
HP:0009118	Aplasia/Hypoplasia of the mandible	5195	PEX14	OMIM:614887
HP:0009118	Aplasia/Hypoplasia of the mandible	5195	PEX14	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	4313	MMP2	OMIM:259600
HP:0009118	Aplasia/Hypoplasia of the mandible	2702	GJA5	OMIM:612474
HP:0009118	Aplasia/Hypoplasia of the mandible	2703	GJA8	OMIM:612474
HP:0009118	Aplasia/Hypoplasia of the mandible	27152	INTU	OMIM:617925
HP:0009118	Aplasia/Hypoplasia of the mandible	1297	COL9A1	ORPHA:250984
HP:0009118	Aplasia/Hypoplasia of the mandible	1298	COL9A2	ORPHA:250984
HP:0009118	Aplasia/Hypoplasia of the mandible	1299	COL9A3	ORPHA:250984
HP:0009118	Aplasia/Hypoplasia of the mandible	84695	LOXL3	ORPHA:250984
HP:0009118	Aplasia/Hypoplasia of the mandible	1144	CHRND	OMIM:253290
HP:0009118	Aplasia/Hypoplasia of the mandible	6497	SKI	ORPHA:2462
HP:0009118	Aplasia/Hypoplasia of the mandible	6497	SKI	OMIM:182212
HP:0009118	Aplasia/Hypoplasia of the mandible	55670	PEX26	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	5824	PEX19	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	8799	PEX11B	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	9409	PEX16	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	5190	PEX6	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	5193	PEX12	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	5194	PEX13	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	5192	PEX10	ORPHA:912
HP:0009118	Aplasia/Hypoplasia of the mandible	4038	LRP4	OMIM:212780
HP:0009118	Aplasia/Hypoplasia of the mandible	9780	PIEZO1	OMIM:616843
HP:0009118	Aplasia/Hypoplasia of the mandible	4683	NBN	OMIM:251260
HP:0009118	Aplasia/Hypoplasia of the mandible	100151683	RNU4ATAC	OMIM:210710
HP:0009118	Aplasia/Hypoplasia of the mandible	100151683	RNU4ATAC	ORPHA:2636
HP:0009118	Aplasia/Hypoplasia of the mandible	85358	SHANK3	OMIM:606232
HP:0009118	Aplasia/Hypoplasia of the mandible	91179	SCARF2	OMIM:600920
HP:0009118	Aplasia/Hypoplasia of the mandible	113179	ADAT3	ORPHA:363528
HP:0009118	Aplasia/Hypoplasia of the mandible	10525	HYOU1	OMIM:233600
HP:0009118	Aplasia/Hypoplasia of the mandible	55784	MCTP2	ORPHA:1596
HP:0009118	Aplasia/Hypoplasia of the mandible	30008	EFEMP2	OMIM:614437
HP:0009118	Aplasia/Hypoplasia of the mandible	91869	RFT1	OMIM:612015
HP:0009118	Aplasia/Hypoplasia of the mandible	5915	RARB	OMIM:615524
HP:0009118	Aplasia/Hypoplasia of the mandible	5053	PAH	ORPHA:2209
HP:0009118	Aplasia/Hypoplasia of the mandible	4297	KMT2A	OMIM:605130
HP:0009118	Aplasia/Hypoplasia of the mandible	101929726	MYMX	ORPHA:1358
HP:0009118	Aplasia/Hypoplasia of the mandible	101929726	MYMX	OMIM:619941
HP:0009118	Aplasia/Hypoplasia of the mandible	4204	MECP2	OMIM:300055
HP:0009118	Aplasia/Hypoplasia of the mandible	10265	IRX5	OMIM:611174
HP:0009118	Aplasia/Hypoplasia of the mandible	5925	RB1	ORPHA:1587
HP:0009118	Aplasia/Hypoplasia of the mandible	55603	TENT5A	OMIM:617952
HP:0009118	Aplasia/Hypoplasia of the mandible	1063	CENPF	OMIM:243605
HP:0009118	Aplasia/Hypoplasia of the mandible	64093	SMOC1	ORPHA:1106
HP:0009118	Aplasia/Hypoplasia of the mandible	91647	ATPAF2	OMIM:604273
HP:0009118	Aplasia/Hypoplasia of the mandible	5718	PSMD12	ORPHA:529962
HP:0009118	Aplasia/Hypoplasia of the mandible	5718	PSMD12	OMIM:617516
HP:0009118	Aplasia/Hypoplasia of the mandible	2186	BPTF	ORPHA:529962
HP:0009118	Aplasia/Hypoplasia of the mandible	2186	BPTF	OMIM:617755
HP:0009118	Aplasia/Hypoplasia of the mandible	84342	COG8	OMIM:611182
HP:0009118	Aplasia/Hypoplasia of the mandible	57572	DOCK6	OMIM:614219
HP:0009118	Aplasia/Hypoplasia of the mandible	29980	DONSON	OMIM:251230
HP:0009118	Aplasia/Hypoplasia of the mandible	23233	EXOC6B	ORPHA:93359
HP:0009118	Aplasia/Hypoplasia of the mandible	29957	SLC25A24	OMIM:612289
HP:0009118	Aplasia/Hypoplasia of the mandible	4659	PPP1R12A	OMIM:618820
HP:0009118	Aplasia/Hypoplasia of the mandible	91461	PKDCC	OMIM:618821
HP:0009118	Aplasia/Hypoplasia of the mandible	285175	UNC80	ORPHA:371364
HP:0009118	Aplasia/Hypoplasia of the mandible	8405	SPOP	OMIM:618829
HP:0009118	Aplasia/Hypoplasia of the mandible	2260	FGFR1	ORPHA:2645
HP:0009118	Aplasia/Hypoplasia of the mandible	202018	TAPT1	OMIM:616897
HP:0009118	Aplasia/Hypoplasia of the mandible	7291	TWIST1	OMIM:617746
HP:0009118	Aplasia/Hypoplasia of the mandible	2767	GNA11	ORPHA:1556
HP:0009118	Aplasia/Hypoplasia of the mandible	151188	ARL6IP6	ORPHA:1556
HP:0009118	Aplasia/Hypoplasia of the mandible	440	ASNS	OMIM:615574
HP:0009118	Aplasia/Hypoplasia of the mandible	55023	PHIP	OMIM:617991
HP:0009118	Aplasia/Hypoplasia of the mandible	3664	IRF6	ORPHA:1300
HP:0009118	Aplasia/Hypoplasia of the mandible	7476	WNT7A	ORPHA:2879
HP:0009118	Aplasia/Hypoplasia of the mandible	4848	CNOT2	OMIM:618608
HP:0009118	Aplasia/Hypoplasia of the mandible	23529	CLCF1	ORPHA:1545
HP:0009118	Aplasia/Hypoplasia of the mandible	221927	BRAT1	OMIM:614498
HP:0009118	Aplasia/Hypoplasia of the mandible	6736	SRY	ORPHA:1772
HP:0009118	Aplasia/Hypoplasia of the mandible	5290	PIK3CA	OMIM:615108
HP:0009118	Aplasia/Hypoplasia of the mandible	207	AKT1	OMIM:615109
HP:0009118	Aplasia/Hypoplasia of the mandible	5604	MAP2K1	OMIM:163950
HP:0009118	Aplasia/Hypoplasia of the mandible	3759	KCNJ2	OMIM:170390
HP:0009118	Aplasia/Hypoplasia of the mandible	3166	HMX1	OMIM:612109
HP:0009118	Aplasia/Hypoplasia of the mandible	5332	PLCB4	OMIM:614669
HP:0009118	Aplasia/Hypoplasia of the mandible	5332	PLCB4	ORPHA:137888
HP:0009118	Aplasia/Hypoplasia of the mandible	1906	EDN1	ORPHA:137888
HP:0009118	Aplasia/Hypoplasia of the mandible	2773	GNAI3	ORPHA:137888
HP:0009118	Aplasia/Hypoplasia of the mandible	2773	GNAI3	OMIM:602483
HP:0009118	Aplasia/Hypoplasia of the mandible	2261	FGFR3	ORPHA:85165
HP:0009118	Aplasia/Hypoplasia of the mandible	26123	TCTN3	ORPHA:2753
HP:0009118	Aplasia/Hypoplasia of the mandible	2131	EXT1	ORPHA:502
HP:0009118	Aplasia/Hypoplasia of the mandible	7227	TRPS1	ORPHA:502
HP:0009118	Aplasia/Hypoplasia of the mandible	5396	PRRX1	OMIM:202650
HP:0009118	Aplasia/Hypoplasia of the mandible	5396	PRRX1	ORPHA:990
HP:0009118	Aplasia/Hypoplasia of the mandible	5015	OTX2	ORPHA:990
HP:0009118	Aplasia/Hypoplasia of the mandible	81620	CDT1	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	5000	ORC4	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	23594	ORC6	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	8318	CDC45	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	990	CDC6	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	4998	ORC1	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	51053	GMNN	ORPHA:2554
HP:0009118	Aplasia/Hypoplasia of the mandible	56975	FAM20C	ORPHA:1832
HP:0009118	Aplasia/Hypoplasia of the mandible	54539	NDUFB11	ORPHA:2556
HP:0009118	Aplasia/Hypoplasia of the mandible	1349	COX7B	ORPHA:2556
HP:0009118	Aplasia/Hypoplasia of the mandible	3052	HCCS	ORPHA:2556
HP:0009118	Aplasia/Hypoplasia of the mandible	404672	GTF2H5	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	833	CARS1	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	2068	ERCC2	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	7737	RNF113A	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	136647	MPLKIP	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	6897	TARS1	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	2071	ERCC3	ORPHA:33364
HP:0009118	Aplasia/Hypoplasia of the mandible	2961	GTF2E2	ORPHA:33364
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	27019	DNAI1	OMIM:244400
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1513	CTSK	OMIM:265800
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	4853	NOTCH2	OMIM:102500
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	4853	NOTCH2	ORPHA:955
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	546	ATRX	OMIM:301040
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	4591	TRIM37	OMIM:253250
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	257	ALX3	OMIM:136760
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	257	ALX3	ORPHA:391474
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	175	AGA	OMIM:208400
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1301	COL11A1	ORPHA:560
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	860	RUNX2	OMIM:119600
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	6424	SFRP4	OMIM:265900
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	2316	FLNA	ORPHA:90650
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	2316	FLNA	ORPHA:90652
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	10736	SIX2	ORPHA:488437
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	8092	ALX1	ORPHA:306542
HP:0012170	Nail-biting	4914	NTRK1	ORPHA:642
HP:0012170	Nail-biting	55367	PIDD1	OMIM:619827
HP:0012171	Stereotypical hand wringing	9759	HDAC4	OMIM:600430
HP:0012171	Stereotypical hand wringing	4001	LMNB1	OMIM:619179
HP:0012171	Stereotypical hand wringing	8367	H4C5	OMIM:619950
HP:0012171	Stereotypical hand wringing	340533	NEXMIF	OMIM:300912
HP:0012171	Stereotypical hand wringing	1859	DYRK1A	ORPHA:268261
HP:0012171	Stereotypical hand wringing	1859	DYRK1A	OMIM:614104
HP:0012171	Stereotypical hand wringing	6844	VAMP2	OMIM:618760
HP:0012171	Stereotypical hand wringing	2770	GNAI1	OMIM:619854
HP:0012171	Stereotypical hand wringing	51574	LARP7	ORPHA:319671
HP:0012171	Stereotypical hand wringing	26047	CNTNAP2	ORPHA:163681
HP:0012171	Stereotypical hand wringing	4247	MGAT2	ORPHA:79329
HP:0012171	Stereotypical hand wringing	4247	MGAT2	OMIM:212066
HP:0012171	Stereotypical hand wringing	23096	IQSEC2	ORPHA:397933
HP:0012171	Stereotypical hand wringing	6792	CDKL5	ORPHA:3095
HP:0012171	Stereotypical hand wringing	6792	CDKL5	ORPHA:505652
HP:0012171	Stereotypical hand wringing	22854	NTNG1	ORPHA:3095
HP:0012171	Stereotypical hand wringing	9568	GABBR2	ORPHA:3095
HP:0012171	Stereotypical hand wringing	4204	MECP2	ORPHA:3095
HP:0012171	Stereotypical hand wringing	4204	MECP2	OMIM:312750
HP:0012171	Stereotypical hand wringing	4204	MECP2	ORPHA:778
HP:0012171	Stereotypical hand wringing	8243	SMC1A	ORPHA:3095
HP:0012171	Stereotypical hand wringing	774	CACNA1B	OMIM:618497
HP:0012171	Stereotypical hand wringing	2902	GRIN1	OMIM:614254
HP:0012171	Stereotypical hand wringing	10659	CELF2	OMIM:619561
HP:0012171	Stereotypical hand wringing	3745	KCNB1	OMIM:616056
HP:0012171	Stereotypical hand wringing	2903	GRIN2A	ORPHA:289266
HP:0012171	Stereotypical hand wringing	112939	NACC1	ORPHA:500545
HP:0012171	Stereotypical hand wringing	22907	DHX30	OMIM:617804
HP:0012171	Stereotypical hand wringing	10472	ZBTB18	OMIM:612337
HP:0012171	Stereotypical hand wringing	6304	SATB1	OMIM:619229
HP:0012171	Stereotypical hand wringing	8905	AP1S2	OMIM:304340
HP:0012171	Stereotypical hand wringing	2891	GRIA2	OMIM:618917
HP:0012172	Stereotypical body rocking	57688	ZSWIM6	OMIM:617865
HP:0012172	Stereotypical body rocking	10730	YME1L1	OMIM:617302
HP:0012172	Stereotypical body rocking	2334	AFF2	ORPHA:100973
HP:0012172	Stereotypical body rocking	2334	AFF2	OMIM:309548
HP:0012172	Stereotypical body rocking	1798	DPAGT1	ORPHA:86309
HP:0012172	Stereotypical body rocking	2783	GNB2	OMIM:619503
HP:0012172	Stereotypical body rocking	80232	WDR26	ORPHA:513456
HP:0012172	Stereotypical body rocking	56992	KIF15	ORPHA:261323
HP:0012172	Stereotypical body rocking	340533	NEXMIF	OMIM:300912
HP:0012173	Orthostatic tachycardia	6530	SLC6A2	OMIM:604715
HP:0012174	Glioblastoma multiforme	64218	SEMA4A	ORPHA:440437
HP:0012174	Glioblastoma multiforme	657	BMPR1A	ORPHA:440437
HP:0012174	Glioblastoma multiforme	6224	RPS20	ORPHA:440437
HP:0012174	Glioblastoma multiforme	4072	EPCAM	ORPHA:144
HP:0012174	Glioblastoma multiforme	4292	MLH1	ORPHA:144
HP:0012174	Glioblastoma multiforme	4292	MLH1	OMIM:276300
HP:0012174	Glioblastoma multiforme	5395	PMS2	ORPHA:144
HP:0012174	Glioblastoma multiforme	5395	PMS2	OMIM:619101
HP:0012174	Glioblastoma multiforme	27030	MLH3	ORPHA:144
HP:0012174	Glioblastoma multiforme	22909	FAN1	ORPHA:144
HP:0012174	Glioblastoma multiforme	7048	TGFBR2	ORPHA:144
HP:0012174	Glioblastoma multiforme	3845	KRAS	ORPHA:144
HP:0012174	Glioblastoma multiforme	5290	PIK3CA	ORPHA:144
HP:0012174	Glioblastoma multiforme	2956	MSH6	ORPHA:144
HP:0012174	Glioblastoma multiforme	2956	MSH6	OMIM:619097
HP:0012174	Glioblastoma multiforme	5378	PMS1	ORPHA:144
HP:0012174	Glioblastoma multiforme	4436	MSH2	ORPHA:144
HP:0012174	Glioblastoma multiforme	4436	MSH2	OMIM:619096
HP:0012174	Glioblastoma multiforme	324	APC	ORPHA:99818
HP:0012174	Glioblastoma multiforme	675	BRCA2	OMIM:613029
HP:0012174	Glioblastoma multiforme	7157	TP53	OMIM:137800
HP:0012174	Glioblastoma multiforme	7157	TP53	ORPHA:524
HP:0012174	Glioblastoma multiforme	2064	ERBB2	OMIM:137800
HP:0012174	Glioblastoma multiforme	3417	IDH1	OMIM:137800
HP:0012174	Glioblastoma multiforme	1029	CDKN2A	ORPHA:524
HP:0012174	Glioblastoma multiforme	4193	MDM2	ORPHA:524
HP:0012174	Glioblastoma multiforme	11200	CHEK2	ORPHA:524
HP:0012175	Resistance to activated protein C	2153	F5	OMIM:188055
HP:0012176	Abnormal natural killer cell morphology	27040	LAT	OMIM:617514
HP:0012176	Abnormal natural killer cell morphology	1130	LYST	ORPHA:167
HP:0012176	Abnormal natural killer cell morphology	5591	PRKDC	OMIM:615966
HP:0012176	Abnormal natural killer cell morphology	916	CD3E	OMIM:615615
HP:0012176	Abnormal natural killer cell morphology	915	CD3D	OMIM:615617
HP:0012176	Abnormal natural killer cell morphology	7535	ZAP70	OMIM:269840
HP:0012176	Abnormal natural killer cell morphology	64170	CARD9	OMIM:212050
HP:0012176	Abnormal natural killer cell morphology	5896	RAG1	ORPHA:331206
HP:0012176	Abnormal natural killer cell morphology	5897	RAG2	ORPHA:331206
HP:0012176	Abnormal natural killer cell morphology	3561	IL2RG	OMIM:312863
HP:0012176	Abnormal natural killer cell morphology	51135	IRAK4	OMIM:607676
HP:0012176	Abnormal natural killer cell morphology	3431	SP110	ORPHA:79124
HP:0012176	Abnormal natural killer cell morphology	4615	MYD88	OMIM:612260
HP:0012176	Abnormal natural killer cell morphology	1789	DNMT3B	OMIM:242860
HP:0012176	Abnormal natural killer cell morphology	970	CD70	OMIM:618261
HP:0012176	Abnormal natural killer cell morphology	3551	IKBKB	OMIM:615592
HP:0012176	Abnormal natural killer cell morphology	10043	TOM1	OMIM:619510
HP:0012176	Abnormal natural killer cell morphology	3572	IL6ST	OMIM:619752
HP:0012176	Abnormal natural killer cell morphology	55388	MCM10	OMIM:619313
HP:0012176	Abnormal natural killer cell morphology	5295	PIK3R1	OMIM:615214
HP:0012176	Abnormal natural killer cell morphology	5238	PGM3	ORPHA:443811
HP:0012176	Abnormal natural killer cell morphology	8737	RIPK1	OMIM:618108
HP:0012176	Abnormal natural killer cell morphology	54440	SASH3	OMIM:301082
HP:0012176	Abnormal natural killer cell morphology	5293	PIK3CD	ORPHA:221139
HP:0012176	Abnormal natural killer cell morphology	90417	KNSTRN	ORPHA:221139
HP:0012176	Abnormal natural killer cell morphology	4173	MCM4	OMIM:609981
HP:0012176	Abnormal natural killer cell morphology	8546	AP3B1	OMIM:608233
HP:0012176	Abnormal natural killer cell morphology	6850	SYK	OMIM:619381
HP:0012176	Abnormal natural killer cell morphology	2000	ELF4	OMIM:301074
HP:0012176	Abnormal natural killer cell morphology	58484	NLRC4	OMIM:616050
HP:0012176	Abnormal natural killer cell morphology	81704	DOCK8	OMIM:243700
HP:0012176	Abnormal natural killer cell morphology	2624	GATA2	OMIM:614172
HP:0012176	Abnormal natural killer cell morphology	567	B2M	OMIM:241600
HP:0012176	Abnormal natural killer cell morphology	5788	PTPRC	OMIM:619924
HP:0012176	Abnormal natural killer cell morphology	5294	PIK3CG	OMIM:619802
HP:0012176	Abnormal natural killer cell morphology	2214	FCGR3A	OMIM:615707
HP:0012176	Abnormal natural killer cell morphology	64858	DCLRE1B	OMIM:620133
HP:0012176	Abnormal natural killer cell morphology	3718	JAK3	OMIM:600802
HP:0012176	Abnormal natural killer cell morphology	3718	JAK3	ORPHA:35078
HP:0012176	Abnormal natural killer cell morphology	9837	GINS1	OMIM:617827
HP:0012177	Abnormal natural killer cell physiology	6813	STXBP2	OMIM:613101
HP:0012177	Abnormal natural killer cell physiology	5293	PIK3CD	OMIM:619281
HP:0012177	Abnormal natural killer cell physiology	5551	PRF1	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	5551	PRF1	OMIM:603553
HP:0012177	Abnormal natural killer cell physiology	8676	STX11	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	201294	UNC13D	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	201294	UNC13D	OMIM:608898
HP:0012177	Abnormal natural killer cell physiology	58484	NLRC4	OMIM:616050
HP:0012177	Abnormal natural killer cell physiology	7454	WAS	OMIM:301000
HP:0012177	Abnormal natural killer cell physiology	3561	IL2RG	OMIM:300400
HP:0012177	Abnormal natural killer cell physiology	3937	LCP2	OMIM:619374
HP:0012177	Abnormal natural killer cell physiology	7456	WIPF1	OMIM:614493
HP:0012177	Abnormal natural killer cell physiology	5580	PRKCD	OMIM:615559
HP:0012177	Abnormal natural killer cell physiology	2214	FCGR3A	OMIM:615707
HP:0012177	Abnormal natural killer cell physiology	8517	IKBKG	OMIM:300291
HP:0012177	Abnormal natural killer cell physiology	331	XIAP	OMIM:308240
HP:0012177	Abnormal natural killer cell physiology	4068	SH2D1A	OMIM:308240
HP:0012177	Abnormal natural killer cell physiology	8546	AP3B1	OMIM:608233
HP:0012178	Reduced natural killer cell activity	5293	PIK3CD	OMIM:619281
HP:0012178	Reduced natural killer cell activity	5551	PRF1	ORPHA:540
HP:0012178	Reduced natural killer cell activity	5551	PRF1	OMIM:603553
HP:0012178	Reduced natural killer cell activity	8676	STX11	ORPHA:540
HP:0012178	Reduced natural killer cell activity	201294	UNC13D	ORPHA:540
HP:0012178	Reduced natural killer cell activity	201294	UNC13D	OMIM:608898
HP:0012178	Reduced natural killer cell activity	6813	STXBP2	ORPHA:540
HP:0012178	Reduced natural killer cell activity	58484	NLRC4	OMIM:616050
HP:0012178	Reduced natural killer cell activity	7454	WAS	OMIM:301000
HP:0012178	Reduced natural killer cell activity	3561	IL2RG	OMIM:300400
HP:0012178	Reduced natural killer cell activity	3937	LCP2	OMIM:619374
HP:0012178	Reduced natural killer cell activity	7456	WIPF1	OMIM:614493
HP:0012178	Reduced natural killer cell activity	5580	PRKCD	OMIM:615559
HP:0012178	Reduced natural killer cell activity	2214	FCGR3A	OMIM:615707
HP:0012178	Reduced natural killer cell activity	8517	IKBKG	OMIM:300291
HP:0012178	Reduced natural killer cell activity	331	XIAP	OMIM:308240
HP:0012178	Reduced natural killer cell activity	4068	SH2D1A	OMIM:308240
HP:0012178	Reduced natural killer cell activity	8546	AP3B1	OMIM:608233
HP:0012179	Craniofacial dystonia	25792	CIZ1	ORPHA:420492
HP:0012179	Craniofacial dystonia	58	ACTA1	ORPHA:97240
HP:0012179	Craniofacial dystonia	10749	KIF1C	ORPHA:397946
HP:0012179	Craniofacial dystonia	10749	KIF1C	OMIM:611302
HP:0012179	Craniofacial dystonia	2643	GCH1	OMIM:128230
HP:0012179	Craniofacial dystonia	2643	GCH1	ORPHA:98808
HP:0012179	Craniofacial dystonia	1291	COL6A1	OMIM:254090
HP:0012179	Craniofacial dystonia	1291	COL6A1	ORPHA:75840
HP:0012179	Craniofacial dystonia	1291	COL6A1	OMIM:158810
HP:0012179	Craniofacial dystonia	1292	COL6A2	OMIM:254090
HP:0012179	Craniofacial dystonia	1292	COL6A2	ORPHA:75840
HP:0012179	Craniofacial dystonia	1292	COL6A2	OMIM:158810
HP:0012179	Craniofacial dystonia	1293	COL6A3	OMIM:254090
HP:0012179	Craniofacial dystonia	1293	COL6A3	ORPHA:75840
HP:0012179	Craniofacial dystonia	1293	COL6A3	OMIM:616411
HP:0012179	Craniofacial dystonia	1293	COL6A3	OMIM:158810
HP:0012179	Craniofacial dystonia	2774	GNAL	OMIM:615073
HP:0012179	Craniofacial dystonia	2774	GNAL	ORPHA:329466
HP:0012179	Craniofacial dystonia	1356	CP	OMIM:604290
HP:0012179	Craniofacial dystonia	1356	CP	ORPHA:48818
HP:0012179	Craniofacial dystonia	478	ATP1A3	OMIM:128235
HP:0012179	Craniofacial dystonia	478	ATP1A3	ORPHA:71517
HP:0012179	Craniofacial dystonia	1303	COL12A1	ORPHA:75840
HP:0012179	Craniofacial dystonia	3208	HPCA	ORPHA:99657
HP:0012179	Craniofacial dystonia	3208	HPCA	OMIM:224500
HP:0012179	Craniofacial dystonia	5575	PRKAR1B	OMIM:619680
HP:0012179	Craniofacial dystonia	55187	VPS13D	OMIM:607317
HP:0012179	Craniofacial dystonia	91754	NEK9	OMIM:617022
HP:0012179	Craniofacial dystonia	81790	RNF170	OMIM:619686
HP:0012179	Craniofacial dystonia	387119	CEP85L	OMIM:618873
HP:0012179	Craniofacial dystonia	3781	KCNN2	OMIM:619724
HP:0012179	Craniofacial dystonia	1644	DDC	OMIM:608643
HP:0012179	Craniofacial dystonia	64221	ROBO3	OMIM:607313
HP:0012179	Craniofacial dystonia	63982	ANO3	ORPHA:420485
HP:0012179	Craniofacial dystonia	63982	ANO3	OMIM:615034
HP:0012179	Craniofacial dystonia	343641	TGM6	OMIM:613908
HP:0012179	Craniofacial dystonia	343641	TGM6	ORPHA:276193
HP:0012179	Craniofacial dystonia	8575	PRKRA	ORPHA:210571
HP:0012179	Craniofacial dystonia	64601	VPS16	OMIM:619291
HP:0012179	Craniofacial dystonia	25953	PNKD	OMIM:118800
HP:0012179	Craniofacial dystonia	25953	PNKD	ORPHA:98810
HP:0012179	Craniofacial dystonia	116228	COX20	OMIM:619054
HP:0012179	Craniofacial dystonia	8260	NAA10	OMIM:300855
HP:0012179	Craniofacial dystonia	8260	NAA10	ORPHA:276432
HP:0012179	Craniofacial dystonia	10381	TUBB3	ORPHA:300570
HP:0012179	Craniofacial dystonia	54834	GDAP2	OMIM:618369
HP:0012179	Craniofacial dystonia	23400	ATP13A2	OMIM:606693
HP:0012179	Craniofacial dystonia	7703	PCGF2	OMIM:618371
HP:0012179	Craniofacial dystonia	773	CACNA1A	ORPHA:97
HP:0012179	Craniofacial dystonia	773	CACNA1A	ORPHA:71518
HP:0012179	Craniofacial dystonia	1813	DRD2	ORPHA:36899
HP:0012179	Craniofacial dystonia	8910	SGCE	ORPHA:36899
HP:0012179	Craniofacial dystonia	8910	SGCE	OMIM:159900
HP:0012179	Craniofacial dystonia	79734	KCTD17	ORPHA:36899
HP:0012179	Craniofacial dystonia	79734	KCTD17	OMIM:616398
HP:0012179	Craniofacial dystonia	1861	TOR1A	ORPHA:36899
HP:0012179	Craniofacial dystonia	1861	TOR1A	OMIM:128100
HP:0012179	Craniofacial dystonia	84504	NKX6-2	OMIM:617560
HP:0012179	Craniofacial dystonia	10935	PRDX3	OMIM:619862
HP:0012179	Craniofacial dystonia	9757	KMT2B	OMIM:617284
HP:0012179	Craniofacial dystonia	9757	KMT2B	ORPHA:589618
HP:0012179	Craniofacial dystonia	2313	FLI1	ORPHA:370348
HP:0012179	Craniofacial dystonia	112476	PRRT2	ORPHA:98810
HP:0012179	Craniofacial dystonia	1267	CNP	OMIM:619071
HP:0012179	Craniofacial dystonia	8558	CDK10	OMIM:617694
HP:0012179	Craniofacial dystonia	6711	SPTBN1	OMIM:619475
HP:0012179	Craniofacial dystonia	4929	NR4A2	ORPHA:98808
HP:0012179	Craniofacial dystonia	3615	IMPDH2	ORPHA:98808
HP:0012179	Craniofacial dystonia	10382	TUBB4A	ORPHA:98805
HP:0012179	Craniofacial dystonia	10382	TUBB4A	OMIM:128101
HP:0012179	Craniofacial dystonia	7701	ZNF142	OMIM:618425
HP:0012179	Craniofacial dystonia	55145	THAP1	ORPHA:98806
HP:0012179	Craniofacial dystonia	55145	THAP1	OMIM:602629
HP:0012179	Craniofacial dystonia	3098	HK1	OMIM:618547
HP:0012179	Craniofacial dystonia	55823	VPS11	OMIM:619637
HP:0012179	Craniofacial dystonia	3748	KCNC3	ORPHA:98768
HP:0012179	Craniofacial dystonia	80036	TRPM3	OMIM:620224
HP:0012179	Craniofacial dystonia	11198	SUPT16H	OMIM:619480
HP:0012179	Craniofacial dystonia	79796	ALG9	ORPHA:79328
HP:0012179	Craniofacial dystonia	78989	COLEC11	OMIM:265050
HP:0012179	Craniofacial dystonia	128240	NAXE	OMIM:617186
HP:0012179	Craniofacial dystonia	4617	MYF5	OMIM:618155
HP:0012179	Craniofacial dystonia	6663	SOX10	OMIM:609136
HP:0012179	Craniofacial dystonia	6908	TBP	ORPHA:98759
HP:0012179	Craniofacial dystonia	126792	B3GALT6	ORPHA:536467
HP:0012179	Craniofacial dystonia	2898	GRIK2	OMIM:611092
HP:0012179	Craniofacial dystonia	8831	SYNGAP1	OMIM:612621
HP:0012179	Craniofacial dystonia	256472	TMEM151A	OMIM:620245
HP:0012179	Craniofacial dystonia	3679	ITGA7	OMIM:613204
HP:0012179	Craniofacial dystonia	7042	TGFB2	OMIM:614816
HP:0012179	Craniofacial dystonia	6342	SCP2	OMIM:613724
HP:0012179	Craniofacial dystonia	59341	TRPV4	OMIM:181405
HP:0012179	Craniofacial dystonia	57167	SALL4	ORPHA:233
HP:0012179	Craniofacial dystonia	9935	MAFB	ORPHA:233
HP:0012179	Craniofacial dystonia	1123	CHN1	ORPHA:233
HP:0012179	Craniofacial dystonia	7291	TWIST1	ORPHA:794
HP:0012179	Craniofacial dystonia	2263	FGFR2	ORPHA:794
HP:0012179	Craniofacial dystonia	2261	FGFR3	ORPHA:794
HP:0012179	Craniofacial dystonia	1816	DRD5	OMIM:606798
HP:0012179	Craniofacial dystonia	2512	FTL	OMIM:606159
HP:0012179	Craniofacial dystonia	2512	FTL	ORPHA:157846
HP:0012179	Craniofacial dystonia	10815	CPLX1	ORPHA:352582
HP:0012179	Craniofacial dystonia	57465	TBC1D24	ORPHA:352582
HP:0012179	Craniofacial dystonia	6872	TAF1	ORPHA:53351
HP:0012179	Craniofacial dystonia	3339	HSPG2	ORPHA:800
HP:0012179	Craniofacial dystonia	84172	POLR1B	ORPHA:861
HP:0012179	Craniofacial dystonia	9533	POLR1C	ORPHA:861
HP:0012179	Craniofacial dystonia	51082	POLR1D	ORPHA:861
HP:0012179	Craniofacial dystonia	6949	TCOF1	ORPHA:861
HP:0012179	Craniofacial dystonia	56910	STARD7	OMIM:607876
HP:0012179	Craniofacial dystonia	11315	PARK7	OMIM:606324
HP:0012179	Craniofacial dystonia	4137	MAPT	OMIM:601104
HP:0012179	Craniofacial dystonia	1822	ATN1	ORPHA:101
HP:0012179	Craniofacial dystonia	1678	TIMM8A	ORPHA:52368
HP:0012179	Craniofacial dystonia	80347	COASY	ORPHA:397725
HP:0012179	Craniofacial dystonia	80347	COASY	OMIM:615643
HP:0012179	Craniofacial dystonia	2521	FUS	ORPHA:300605
HP:0012179	Craniofacial dystonia	80208	SPG11	ORPHA:300605
HP:0012179	Craniofacial dystonia	10280	SIGMAR1	ORPHA:300605
HP:0012179	Craniofacial dystonia	10558	SPTLC1	ORPHA:300605
HP:0012179	Craniofacial dystonia	57679	ALS2	ORPHA:300605
HP:0012179	Craniofacial dystonia	80025	PANK2	ORPHA:216873
HP:0012179	Craniofacial dystonia	83636	C19orf12	OMIM:614298
HP:0012179	Craniofacial dystonia	23516	SLC39A14	OMIM:617013
HP:0012179	Craniofacial dystonia	23516	SLC39A14	ORPHA:521406
HP:0012179	Craniofacial dystonia	6531	SLC6A3	OMIM:613135
HP:0012179	Craniofacial dystonia	23230	VPS13A	ORPHA:2388
HP:0012179	Craniofacial dystonia	16	AARS1	OMIM:619691
HP:0012179	Craniofacial dystonia	51102	MECR	OMIM:617282
HP:0012179	Craniofacial dystonia	51102	MECR	ORPHA:508093
HP:0012179	Craniofacial dystonia	55697	VAC14	OMIM:617054
HP:0012179	Craniofacial dystonia	84909	AOPEP	OMIM:619565
HP:0012179	Craniofacial dystonia	4700	NDUFA6	OMIM:618253
HP:0012179	Craniofacial dystonia	80704	SLC19A3	OMIM:607483
HP:0012179	Craniofacial dystonia	65055	REEP1	OMIM:620011
HP:0012179	Craniofacial dystonia	55768	NGLY1	ORPHA:404454
HP:0009120	Aplasia/Hypoplasia involving the sinuses	27019	DNAI1	OMIM:244400
HP:0009120	Aplasia/Hypoplasia involving the sinuses	1513	CTSK	OMIM:265800
HP:0009120	Aplasia/Hypoplasia involving the sinuses	4853	NOTCH2	OMIM:102500
HP:0009120	Aplasia/Hypoplasia involving the sinuses	4853	NOTCH2	ORPHA:955
HP:0009120	Aplasia/Hypoplasia involving the sinuses	546	ATRX	OMIM:301040
HP:0009120	Aplasia/Hypoplasia involving the sinuses	4591	TRIM37	OMIM:253250
HP:0009120	Aplasia/Hypoplasia involving the sinuses	257	ALX3	OMIM:136760
HP:0009120	Aplasia/Hypoplasia involving the sinuses	257	ALX3	ORPHA:391474
HP:0009120	Aplasia/Hypoplasia involving the sinuses	175	AGA	OMIM:208400
HP:0009120	Aplasia/Hypoplasia involving the sinuses	1301	COL11A1	ORPHA:560
HP:0009120	Aplasia/Hypoplasia involving the sinuses	860	RUNX2	OMIM:119600
HP:0009120	Aplasia/Hypoplasia involving the sinuses	6424	SFRP4	OMIM:265900
HP:0009120	Aplasia/Hypoplasia involving the sinuses	2316	FLNA	ORPHA:90650
HP:0009120	Aplasia/Hypoplasia involving the sinuses	2316	FLNA	ORPHA:90652
HP:0009120	Aplasia/Hypoplasia involving the sinuses	10736	SIX2	ORPHA:488437
HP:0009120	Aplasia/Hypoplasia involving the sinuses	2517	FUCA1	OMIM:230000
HP:0009120	Aplasia/Hypoplasia involving the sinuses	5573	PRKAR1A	ORPHA:280651
HP:0009120	Aplasia/Hypoplasia involving the sinuses	5144	PDE4D	ORPHA:280651
HP:0009120	Aplasia/Hypoplasia involving the sinuses	139285	AMER1	OMIM:300373
HP:0009120	Aplasia/Hypoplasia involving the sinuses	23347	SMCHD1	OMIM:603457
HP:0009120	Aplasia/Hypoplasia involving the sinuses	8092	ALX1	ORPHA:306542
HP:0009121	Abnormal axial skeleton morphology	112476	PRRT2	ORPHA:98810
HP:0009121	Abnormal axial skeleton morphology	25953	PNKD	ORPHA:98810
HP:0009121	Abnormal axial skeleton morphology	7407	VARS1	OMIM:617802
HP:0009121	Abnormal axial skeleton morphology	3975	LHX1	ORPHA:261265
HP:0009121	Abnormal axial skeleton morphology	6928	HNF1B	ORPHA:261265
HP:0009121	Abnormal axial skeleton morphology	5172	SLC26A4	ORPHA:95720
HP:0009121	Abnormal axial skeleton morphology	5172	SLC26A4	ORPHA:95713
HP:0009121	Abnormal axial skeleton morphology	857	CAV1	OMIM:606721
HP:0009121	Abnormal axial skeleton morphology	27031	NPHP3	OMIM:267010
HP:0009121	Abnormal axial skeleton morphology	79053	ALG8	OMIM:608104
HP:0009121	Abnormal axial skeleton morphology	6659	SOX4	OMIM:618506
HP:0009121	Abnormal axial skeleton morphology	4001	LMNB1	OMIM:619179
HP:0009121	Abnormal axial skeleton morphology	158326	FREM1	OMIM:614485
HP:0009121	Abnormal axial skeleton morphology	158326	FREM1	ORPHA:3366
HP:0009121	Abnormal axial skeleton morphology	5925	RB1	ORPHA:1587
HP:0009121	Abnormal axial skeleton morphology	23229	ARHGEF9	ORPHA:163985
HP:0009121	Abnormal axial skeleton morphology	23229	ARHGEF9	OMIM:300607
HP:0009121	Abnormal axial skeleton morphology	201163	FLCN	OMIM:610883
HP:0009121	Abnormal axial skeleton morphology	84823	LMNB2	OMIM:619180
HP:0009121	Abnormal axial skeleton morphology	4860	PNP	OMIM:613179
HP:0009121	Abnormal axial skeleton morphology	7454	WAS	ORPHA:906
HP:0009121	Abnormal axial skeleton morphology	7456	WIPF1	ORPHA:906
HP:0009121	Abnormal axial skeleton morphology	1493	CTLA4	ORPHA:900
HP:0009121	Abnormal axial skeleton morphology	3115	HLA-DPB1	ORPHA:900
HP:0009121	Abnormal axial skeleton morphology	5657	PRTN3	ORPHA:900
HP:0009121	Abnormal axial skeleton morphology	3113	HLA-DPA1	ORPHA:900
HP:0009121	Abnormal axial skeleton morphology	3561	IL2RG	OMIM:312863
HP:0009121	Abnormal axial skeleton morphology	2947	GSTM3	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	2729	GCLC	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	1084	CEACAM3	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	6556	SLC11A1	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	51164	DCTN4	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	3783	KCNN4	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	4282	MIF	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	6550	SLC9A3	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	3162	HMOX1	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	115019	SLC26A9	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	3077	HFE	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	11254	SLC6A14	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	5265	SERPINA1	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	1080	CFTR	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	22802	CLCA4	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	4680	CEACAM6	ORPHA:586
HP:0009121	Abnormal axial skeleton morphology	1536	CYBB	ORPHA:379
HP:0009121	Abnormal axial skeleton morphology	4688	NCF2	ORPHA:379
HP:0009121	Abnormal axial skeleton morphology	1535	CYBA	ORPHA:379
HP:0009121	Abnormal axial skeleton morphology	4689	NCF4	ORPHA:379
HP:0009121	Abnormal axial skeleton morphology	79415	CYBC1	ORPHA:379
HP:0009121	Abnormal axial skeleton morphology	1991	ELANE	ORPHA:2686
HP:0009121	Abnormal axial skeleton morphology	695	BTK	ORPHA:47
HP:0009121	Abnormal axial skeleton morphology	695	BTK	OMIM:307200
HP:0009121	Abnormal axial skeleton morphology	5994	RFXAP	ORPHA:572
HP:0009121	Abnormal axial skeleton morphology	4261	CIITA	ORPHA:572
HP:0009121	Abnormal axial skeleton morphology	5993	RFX5	ORPHA:572
HP:0009121	Abnormal axial skeleton morphology	8625	RFXANK	ORPHA:572
HP:0009121	Abnormal axial skeleton morphology	5692	PSMB4	OMIM:617591
HP:0009121	Abnormal axial skeleton morphology	5698	PSMB9	OMIM:617591
HP:0009121	Abnormal axial skeleton morphology	3394	IRF8	OMIM:226990
HP:0009121	Abnormal axial skeleton morphology	7852	CXCR4	ORPHA:51636
HP:0009121	Abnormal axial skeleton morphology	51314	NME8	OMIM:610852
HP:0009121	Abnormal axial skeleton morphology	352909	DNAAF3	OMIM:606763
HP:0009121	Abnormal axial skeleton morphology	3321	IGSF3	OMIM:149700
HP:0009121	Abnormal axial skeleton morphology	6929	TCF3	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	973	CD79A	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	974	CD79B	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	3543	IGLL1	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	3507	IGHM	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	29760	BLNK	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	56262	LRRC8A	ORPHA:33110
HP:0009121	Abnormal axial skeleton morphology	54476	RNF216	ORPHA:1173
HP:0009121	Abnormal axial skeleton morphology	10908	PNPLA6	ORPHA:1173
HP:0009121	Abnormal axial skeleton morphology	10908	PNPLA6	ORPHA:2377
HP:0009121	Abnormal axial skeleton morphology	51322	WAC	OMIM:616708
HP:0009121	Abnormal axial skeleton morphology	123016	TTC8	OMIM:615985
HP:0009121	Abnormal axial skeleton morphology	23495	TNFRSF13B	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	4790	NFKB1	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	4791	NFKB2	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	115650	TNFRSF13C	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	1380	CR2	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	8742	TNFSF12	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	5580	PRKCD	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	930	CD19	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	29851	ICOS	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	931	MS4A1	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	975	CD81	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	359948	IRF2BP2	ORPHA:1572
HP:0009121	Abnormal axial skeleton morphology	10771	ZMYND11	OMIM:616083
HP:0009121	Abnormal axial skeleton morphology	4858	NOVA2	OMIM:618859
HP:0009121	Abnormal axial skeleton morphology	51399	TRAPPC4	OMIM:618741
HP:0009121	Abnormal axial skeleton morphology	51569	UFM1	OMIM:617899
HP:0009121	Abnormal axial skeleton morphology	478	ATP1A3	OMIM:619606
HP:0009121	Abnormal axial skeleton morphology	478	ATP1A3	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	166378	AFG2A	OMIM:616577
HP:0009121	Abnormal axial skeleton morphology	6884	TAF13	OMIM:617432
HP:0009121	Abnormal axial skeleton morphology	6884	TAF13	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	79029	AFG2B	OMIM:619616
HP:0009121	Abnormal axial skeleton morphology	10111	RAD50	OMIM:613078
HP:0009121	Abnormal axial skeleton morphology	85465	SELENOI	OMIM:618768
HP:0009121	Abnormal axial skeleton morphology	85465	SELENOI	ORPHA:506353
HP:0009121	Abnormal axial skeleton morphology	55131	RBM28	ORPHA:157954
HP:0009121	Abnormal axial skeleton morphology	55131	RBM28	OMIM:612079
HP:0009121	Abnormal axial skeleton morphology	55621	TRMT1	OMIM:618302
HP:0009121	Abnormal axial skeleton morphology	54828	BCAS3	OMIM:619641
HP:0009121	Abnormal axial skeleton morphology	6305	SBF1	OMIM:615284
HP:0009121	Abnormal axial skeleton morphology	2232	FDXR	ORPHA:543470
HP:0009121	Abnormal axial skeleton morphology	2904	GRIN2B	OMIM:616139
HP:0009121	Abnormal axial skeleton morphology	2904	GRIN2B	OMIM:613970
HP:0009121	Abnormal axial skeleton morphology	5917	RARS1	OMIM:616140
HP:0009121	Abnormal axial skeleton morphology	5917	RARS1	ORPHA:438114
HP:0009121	Abnormal axial skeleton morphology	54916	TMEM260	OMIM:617478
HP:0009121	Abnormal axial skeleton morphology	23499	MACF1	OMIM:618325
HP:0009121	Abnormal axial skeleton morphology	120	ADD3	OMIM:617008
HP:0009121	Abnormal axial skeleton morphology	3479	IGF1	ORPHA:73272
HP:0009121	Abnormal axial skeleton morphology	3479	IGF1	OMIM:608747
HP:0009121	Abnormal axial skeleton morphology	3155	HMGCL	ORPHA:20
HP:0009121	Abnormal axial skeleton morphology	3155	HMGCL	OMIM:246450
HP:0009121	Abnormal axial skeleton morphology	2775	GNAO1	OMIM:617493
HP:0009121	Abnormal axial skeleton morphology	2775	GNAO1	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	154881	KCTD7	OMIM:611726
HP:0009121	Abnormal axial skeleton morphology	154881	KCTD7	ORPHA:263516
HP:0009121	Abnormal axial skeleton morphology	84340	GFM2	ORPHA:565624
HP:0009121	Abnormal axial skeleton morphology	84340	GFM2	OMIM:618397
HP:0009121	Abnormal axial skeleton morphology	10588	MTHFS	OMIM:618367
HP:0009121	Abnormal axial skeleton morphology	3054	HCFC1	OMIM:309541
HP:0009121	Abnormal axial skeleton morphology	2019	EN1	OMIM:619218
HP:0009121	Abnormal axial skeleton morphology	3431	SP110	OMIM:235550
HP:0009121	Abnormal axial skeleton morphology	3431	SP110	ORPHA:79124
HP:0009121	Abnormal axial skeleton morphology	51608	GET4	OMIM:620200
HP:0009121	Abnormal axial skeleton morphology	23111	SPART	ORPHA:101000
HP:0009121	Abnormal axial skeleton morphology	11342	RNF13	OMIM:618379
HP:0009121	Abnormal axial skeleton morphology	11342	RNF13	ORPHA:544503
HP:0009121	Abnormal axial skeleton morphology	8802	SUCLG1	ORPHA:17
HP:0009121	Abnormal axial skeleton morphology	2707	GJB3	ORPHA:317
HP:0009121	Abnormal axial skeleton morphology	2531	KDSR	ORPHA:317
HP:0009121	Abnormal axial skeleton morphology	127534	GJB4	ORPHA:317
HP:0009121	Abnormal axial skeleton morphology	3028	HSD17B10	ORPHA:391428
HP:0009121	Abnormal axial skeleton morphology	8452	CUL3	OMIM:619239
HP:0009121	Abnormal axial skeleton morphology	1457	CSNK2A1	OMIM:617062
HP:0009121	Abnormal axial skeleton morphology	55640	FLVCR2	OMIM:225790
HP:0009121	Abnormal axial skeleton morphology	201595	STT3B	ORPHA:370924
HP:0009121	Abnormal axial skeleton morphology	201595	STT3B	OMIM:615597
HP:0009121	Abnormal axial skeleton morphology	10436	EMG1	OMIM:211180
HP:0009121	Abnormal axial skeleton morphology	10436	EMG1	ORPHA:1270
HP:0009121	Abnormal axial skeleton morphology	6748	SSR4	ORPHA:370927
HP:0009121	Abnormal axial skeleton morphology	6748	SSR4	OMIM:300934
HP:0009121	Abnormal axial skeleton morphology	8831	SYNGAP1	OMIM:612621
HP:0009121	Abnormal axial skeleton morphology	8831	SYNGAP1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	8831	SYNGAP1	ORPHA:1942
HP:0009121	Abnormal axial skeleton morphology	8831	SYNGAP1	ORPHA:544254
HP:0009121	Abnormal axial skeleton morphology	1968	EIF2S3	ORPHA:85282
HP:0009121	Abnormal axial skeleton morphology	1968	EIF2S3	OMIM:300148
HP:0009121	Abnormal axial skeleton morphology	81615	TMEM163	OMIM:620243
HP:0009121	Abnormal axial skeleton morphology	116150	NUS1	OMIM:617082
HP:0009121	Abnormal axial skeleton morphology	116150	NUS1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	5138	PDE2A	OMIM:619150
HP:0009121	Abnormal axial skeleton morphology	26960	NBEA	OMIM:619157
HP:0009121	Abnormal axial skeleton morphology	26128	KIFBP	OMIM:609460
HP:0009121	Abnormal axial skeleton morphology	26128	KIFBP	ORPHA:66629
HP:0009121	Abnormal axial skeleton morphology	781	CACNA2D1	OMIM:620149
HP:0009121	Abnormal axial skeleton morphology	781	CACNA2D1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	10093	ARPC4	OMIM:620141
HP:0009121	Abnormal axial skeleton morphology	9640	ZNF592	ORPHA:83472
HP:0009121	Abnormal axial skeleton morphology	3242	HPD	OMIM:140350
HP:0009121	Abnormal axial skeleton morphology	338657	CENATAC	OMIM:620153
HP:0009121	Abnormal axial skeleton morphology	1738	DLD	ORPHA:2394
HP:0009121	Abnormal axial skeleton morphology	1738	DLD	OMIM:246900
HP:0009121	Abnormal axial skeleton morphology	10367	MICU1	ORPHA:401768
HP:0009121	Abnormal axial skeleton morphology	10367	MICU1	OMIM:615673
HP:0009121	Abnormal axial skeleton morphology	63894	VIPAS39	OMIM:613404
HP:0009121	Abnormal axial skeleton morphology	84947	SERAC1	OMIM:614739
HP:0009121	Abnormal axial skeleton morphology	54084	TSPEAR	OMIM:620173
HP:0009121	Abnormal axial skeleton morphology	3675	ITGA3	OMIM:614748
HP:0009121	Abnormal axial skeleton morphology	55343	SLC35C1	OMIM:266265
HP:0009121	Abnormal axial skeleton morphology	55343	SLC35C1	ORPHA:99843
HP:0009121	Abnormal axial skeleton morphology	1737	DLAT	OMIM:245348
HP:0009121	Abnormal axial skeleton morphology	1737	DLAT	ORPHA:79244
HP:0009121	Abnormal axial skeleton morphology	51567	TDP2	OMIM:616949
HP:0009121	Abnormal axial skeleton morphology	9276	COPB2	OMIM:617800
HP:0009121	Abnormal axial skeleton morphology	9276	COPB2	OMIM:619884
HP:0009121	Abnormal axial skeleton morphology	9276	COPB2	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	22907	DHX30	OMIM:617804
HP:0009121	Abnormal axial skeleton morphology	9230	RAB11B	OMIM:617807
HP:0009121	Abnormal axial skeleton morphology	3097	HIVEP2	OMIM:616977
HP:0009121	Abnormal axial skeleton morphology	9837	GINS1	OMIM:617827
HP:0009121	Abnormal axial skeleton morphology	79840	NHEJ1	ORPHA:169079
HP:0009121	Abnormal axial skeleton morphology	6597	SMARCA4	ORPHA:1465
HP:0009121	Abnormal axial skeleton morphology	6597	SMARCA4	OMIM:614609
HP:0009121	Abnormal axial skeleton morphology	8289	ARID1A	ORPHA:1465
HP:0009121	Abnormal axial skeleton morphology	8289	ARID1A	OMIM:614607
HP:0009121	Abnormal axial skeleton morphology	6601	SMARCC2	ORPHA:1465
HP:0009121	Abnormal axial skeleton morphology	6664	SOX11	ORPHA:1465
HP:0009121	Abnormal axial skeleton morphology	6664	SOX11	OMIM:615866
HP:0009121	Abnormal axial skeleton morphology	5723	PSPH	ORPHA:79350
HP:0009121	Abnormal axial skeleton morphology	5723	PSPH	OMIM:614023
HP:0009121	Abnormal axial skeleton morphology	26227	PHGDH	ORPHA:79351
HP:0009121	Abnormal axial skeleton morphology	55180	LINS1	OMIM:614340
HP:0009121	Abnormal axial skeleton morphology	80152	CENPT	OMIM:618702
HP:0009121	Abnormal axial skeleton morphology	6697	SPR	ORPHA:70594
HP:0009121	Abnormal axial skeleton morphology	6697	SPR	OMIM:612716
HP:0009121	Abnormal axial skeleton morphology	953	ENTPD1	OMIM:615683
HP:0009121	Abnormal axial skeleton morphology	953	ENTPD1	ORPHA:401810
HP:0009121	Abnormal axial skeleton morphology	2893	GRIA4	OMIM:617864
HP:0009121	Abnormal axial skeleton morphology	55691	FRMD4A	ORPHA:466688
HP:0009121	Abnormal axial skeleton morphology	54802	TRIT1	OMIM:617873
HP:0009121	Abnormal axial skeleton morphology	8086	AAAS	OMIM:231550
HP:0009121	Abnormal axial skeleton morphology	8086	AAAS	ORPHA:869
HP:0009121	Abnormal axial skeleton morphology	51075	TMX2	OMIM:618730
HP:0009121	Abnormal axial skeleton morphology	65057	ACD	OMIM:616553
HP:0009121	Abnormal axial skeleton morphology	65057	ACD	ORPHA:3322
HP:0009121	Abnormal axial skeleton morphology	1355	COX15	OMIM:615119
HP:0009121	Abnormal axial skeleton morphology	5361	PLXNA1	OMIM:619955
HP:0009121	Abnormal axial skeleton morphology	4047	LSS	ORPHA:2850
HP:0009121	Abnormal axial skeleton morphology	4047	LSS	OMIM:618840
HP:0009121	Abnormal axial skeleton morphology	197	AHSG	ORPHA:2850
HP:0009121	Abnormal axial skeleton morphology	3694	ITGB6	ORPHA:2850
HP:0009121	Abnormal axial skeleton morphology	28960	DCPS	OMIM:616459
HP:0009121	Abnormal axial skeleton morphology	80153	EDC3	OMIM:616460
HP:0009121	Abnormal axial skeleton morphology	816	CAMK2B	OMIM:617799
HP:0009121	Abnormal axial skeleton morphology	9213	XPR1	ORPHA:1980
HP:0009121	Abnormal axial skeleton morphology	57462	MYORG	ORPHA:1980
HP:0009121	Abnormal axial skeleton morphology	6575	SLC20A2	ORPHA:1980
HP:0009121	Abnormal axial skeleton morphology	58494	JAM2	ORPHA:1980
HP:0009121	Abnormal axial skeleton morphology	1501	CTNND2	ORPHA:281
HP:0009121	Abnormal axial skeleton morphology	9037	SEMA5A	ORPHA:281
HP:0009121	Abnormal axial skeleton morphology	3737	KCNA2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	8120	AP3B2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	8120	AP3B2	OMIM:617276
HP:0009121	Abnormal axial skeleton morphology	10991	SLC38A3	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	10991	SLC38A3	OMIM:619881
HP:0009121	Abnormal axial skeleton morphology	51343	FZR1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	22906	TRAK1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	22906	TRAK1	OMIM:618201
HP:0009121	Abnormal axial skeleton morphology	2566	GABRG2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	7532	YWHAG	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	6328	SCN3A	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	6328	SCN3A	OMIM:617935
HP:0009121	Abnormal axial skeleton morphology	6328	SCN3A	OMIM:617938
HP:0009121	Abnormal axial skeleton morphology	2906	GRIN2D	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	2906	GRIN2D	OMIM:617162
HP:0009121	Abnormal axial skeleton morphology	10659	CELF2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	23334	SZT2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	51412	ACTL6B	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	51412	ACTL6B	OMIM:618468
HP:0009121	Abnormal axial skeleton morphology	51412	ACTL6B	OMIM:618470
HP:0009121	Abnormal axial skeleton morphology	348980	HCN1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	348980	HCN1	OMIM:618482
HP:0009121	Abnormal axial skeleton morphology	6506	SLC1A2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	6506	SLC1A2	OMIM:617105
HP:0009121	Abnormal axial skeleton morphology	8867	SYNJ1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	2258	FGF13	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	3745	KCNB1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	284111	SLC13A5	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	284111	SLC13A5	OMIM:615905
HP:0009121	Abnormal axial skeleton morphology	25977	NECAP1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	22866	CNKSR2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	2555	GABRA2	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	2555	GABRA2	OMIM:618557
HP:0009121	Abnormal axial skeleton morphology	55152	DALRD3	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	55152	DALRD3	OMIM:618910
HP:0009121	Abnormal axial skeleton morphology	773	CACNA1A	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	23097	CDK19	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	64801	ARV1	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	79947	DHDDS	ORPHA:442835
HP:0009121	Abnormal axial skeleton morphology	29081	METTL5	OMIM:618665
HP:0009121	Abnormal axial skeleton morphology	29081	METTL5	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	7862	BRPF1	OMIM:617333
HP:0009121	Abnormal axial skeleton morphology	5860	QDPR	ORPHA:226
HP:0009121	Abnormal axial skeleton morphology	5860	QDPR	OMIM:261630
HP:0009121	Abnormal axial skeleton morphology	7385	UQCRC2	OMIM:615160
HP:0009121	Abnormal axial skeleton morphology	7750	ZMYM2	OMIM:619522
HP:0009121	Abnormal axial skeleton morphology	9922	IQSEC1	OMIM:618687
HP:0009121	Abnormal axial skeleton morphology	1106	CHD2	ORPHA:1942
HP:0009121	Abnormal axial skeleton morphology	6529	SLC6A1	ORPHA:1942
HP:0009121	Abnormal axial skeleton morphology	133686	NADK2	OMIM:616034
HP:0009121	Abnormal axial skeleton morphology	133686	NADK2	ORPHA:431361
HP:0009121	Abnormal axial skeleton morphology	3736	KCNA1	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	81603	TRIM8	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	81603	TRIM8	OMIM:619428
HP:0009121	Abnormal axial skeleton morphology	150094	SIK1	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	2917	GRM7	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	2917	GRM7	OMIM:618922
HP:0009121	Abnormal axial skeleton morphology	6326	SCN2A	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	51227	PIGP	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	51227	PIGP	OMIM:617599
HP:0009121	Abnormal axial skeleton morphology	6324	SCN1B	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	4761	NEUROD2	ORPHA:1934
HP:0009121	Abnormal axial skeleton morphology	8803	SUCLA2	ORPHA:1933
HP:0009121	Abnormal axial skeleton morphology	51750	RTEL1	OMIM:615190
HP:0009121	Abnormal axial skeleton morphology	51750	RTEL1	ORPHA:3322
HP:0009121	Abnormal axial skeleton morphology	498	ATP5F1A	OMIM:616045
HP:0009121	Abnormal axial skeleton morphology	4729	NDUFV2	OMIM:618229
HP:0009121	Abnormal axial skeleton morphology	4729	NDUFV2	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4695	NDUFA2	OMIM:618235
HP:0009121	Abnormal axial skeleton morphology	9179	AP4M1	OMIM:612936
HP:0009121	Abnormal axial skeleton morphology	9179	AP4M1	ORPHA:280763
HP:0009121	Abnormal axial skeleton morphology	340665	CYP26C1	ORPHA:398189
HP:0009121	Abnormal axial skeleton morphology	2898	GRIK2	OMIM:619580
HP:0009121	Abnormal axial skeleton morphology	10524	KAT5	OMIM:619103
HP:0009121	Abnormal axial skeleton morphology	8635	RNASET2	OMIM:612951
HP:0009121	Abnormal axial skeleton morphology	55526	DHTKD1	OMIM:204750
HP:0009121	Abnormal axial skeleton morphology	1528	CYB5A	ORPHA:621
HP:0009121	Abnormal axial skeleton morphology	1727	CYB5R3	ORPHA:621
HP:0009121	Abnormal axial skeleton morphology	1727	CYB5R3	OMIM:250800
HP:0009121	Abnormal axial skeleton morphology	90522	YIF1B	OMIM:619125
HP:0009121	Abnormal axial skeleton morphology	55755	CDK5RAP2	OMIM:604804
HP:0009121	Abnormal axial skeleton morphology	55755	CDK5RAP2	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	6472	SHMT2	OMIM:619121
HP:0009121	Abnormal axial skeleton morphology	9895	TECPR2	ORPHA:320385
HP:0009121	Abnormal axial skeleton morphology	9895	TECPR2	OMIM:615031
HP:0009121	Abnormal axial skeleton morphology	3739	KCNA4	OMIM:618284
HP:0009121	Abnormal axial skeleton morphology	3735	KARS1	OMIM:619147
HP:0009121	Abnormal axial skeleton morphology	8665	EIF3F	OMIM:618295
HP:0009121	Abnormal axial skeleton morphology	221692	PHACTR1	OMIM:618298
HP:0009121	Abnormal axial skeleton morphology	10134	BCAP31	OMIM:300475
HP:0009121	Abnormal axial skeleton morphology	10134	BCAP31	ORPHA:369939
HP:0009121	Abnormal axial skeleton morphology	3763	KCNJ6	ORPHA:435628
HP:0009121	Abnormal axial skeleton morphology	3763	KCNJ6	OMIM:614098
HP:0009121	Abnormal axial skeleton morphology	7109	TRAPPC10	OMIM:620027
HP:0009121	Abnormal axial skeleton morphology	7109	TRAPPC10	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	10274	STAG1	ORPHA:502434
HP:0009121	Abnormal axial skeleton morphology	10274	STAG1	OMIM:617635
HP:0009121	Abnormal axial skeleton morphology	1119	CHKA	OMIM:620023
HP:0009121	Abnormal axial skeleton morphology	5111	PCNA	OMIM:615919
HP:0009121	Abnormal axial skeleton morphology	5111	PCNA	ORPHA:438134
HP:0009121	Abnormal axial skeleton morphology	57176	VARS2	OMIM:615917
HP:0009121	Abnormal axial skeleton morphology	5689	PSMB1	OMIM:620038
HP:0009121	Abnormal axial skeleton morphology	23431	AP4E1	OMIM:613744
HP:0009121	Abnormal axial skeleton morphology	23431	AP4E1	ORPHA:280763
HP:0009121	Abnormal axial skeleton morphology	10472	ZBTB18	ORPHA:36367
HP:0009121	Abnormal axial skeleton morphology	10472	ZBTB18	OMIM:612337
HP:0009121	Abnormal axial skeleton morphology	7298	TYMS	OMIM:620040
HP:0009121	Abnormal axial skeleton morphology	1351	COX8A	OMIM:619059
HP:0009121	Abnormal axial skeleton morphology	100131801	PET100	OMIM:619055
HP:0009121	Abnormal axial skeleton morphology	10382	TUBB4A	OMIM:612438
HP:0009121	Abnormal axial skeleton morphology	83475	DOHH	OMIM:620066
HP:0009121	Abnormal axial skeleton morphology	55027	HEATR3	OMIM:620072
HP:0009121	Abnormal axial skeleton morphology	5591	PRKDC	OMIM:615966
HP:0009121	Abnormal axial skeleton morphology	25828	TXN2	OMIM:616811
HP:0009121	Abnormal axial skeleton morphology	22880	MORC2	OMIM:619090
HP:0009121	Abnormal axial skeleton morphology	22880	MORC2	ORPHA:466768
HP:0009121	Abnormal axial skeleton morphology	5073	PARN	ORPHA:3322
HP:0009121	Abnormal axial skeleton morphology	5073	PARN	OMIM:616353
HP:0009121	Abnormal axial skeleton morphology	26277	TINF2	ORPHA:3322
HP:0009121	Abnormal axial skeleton morphology	26277	TINF2	OMIM:613990
HP:0009121	Abnormal axial skeleton morphology	1736	DKC1	ORPHA:3322
HP:0009121	Abnormal axial skeleton morphology	1736	DKC1	OMIM:305000
HP:0009121	Abnormal axial skeleton morphology	92154	MTSS2	OMIM:620086
HP:0009121	Abnormal axial skeleton morphology	197322	ACSF3	ORPHA:289504
HP:0009121	Abnormal axial skeleton morphology	63925	ZNF335	ORPHA:329228
HP:0009121	Abnormal axial skeleton morphology	6307	MSMO1	OMIM:616834
HP:0009121	Abnormal axial skeleton morphology	1828	DSG1	OMIM:615508
HP:0009121	Abnormal axial skeleton morphology	549	AUH	ORPHA:67046
HP:0009121	Abnormal axial skeleton morphology	6301	SARS1	OMIM:617709
HP:0009121	Abnormal axial skeleton morphology	55997	CFC1	OMIM:605376
HP:0009121	Abnormal axial skeleton morphology	26224	FBXL3	OMIM:606220
HP:0009121	Abnormal axial skeleton morphology	80185	TTI2	OMIM:615541
HP:0009121	Abnormal axial skeleton morphology	80185	TTI2	ORPHA:391307
HP:0009121	Abnormal axial skeleton morphology	128989	TANGO2	OMIM:616878
HP:0009121	Abnormal axial skeleton morphology	128989	TANGO2	ORPHA:480864
HP:0009121	Abnormal axial skeleton morphology	23443	SLC35A3	OMIM:615553
HP:0009121	Abnormal axial skeleton morphology	54805	CNNM2	OMIM:616418
HP:0009121	Abnormal axial skeleton morphology	1376	CPT2	OMIM:608836
HP:0009121	Abnormal axial skeleton morphology	10717	AP4B1	ORPHA:280763
HP:0009121	Abnormal axial skeleton morphology	10717	AP4B1	OMIM:614066
HP:0009121	Abnormal axial skeleton morphology	11154	AP4S1	ORPHA:280763
HP:0009121	Abnormal axial skeleton morphology	11154	AP4S1	OMIM:614067
HP:0009121	Abnormal axial skeleton morphology	1663	DDX11	OMIM:613398
HP:0009121	Abnormal axial skeleton morphology	2186	BPTF	OMIM:617755
HP:0009121	Abnormal axial skeleton morphology	9439	MED23	OMIM:614249
HP:0009121	Abnormal axial skeleton morphology	6777	STAT5B	OMIM:618985
HP:0009121	Abnormal axial skeleton morphology	161582	DNAAF4	OMIM:615482
HP:0009121	Abnormal axial skeleton morphology	65993	MRPS34	OMIM:617664
HP:0009121	Abnormal axial skeleton morphology	387787	LIPT2	OMIM:617668
HP:0009121	Abnormal axial skeleton morphology	1841	DTYMK	OMIM:619847
HP:0009121	Abnormal axial skeleton morphology	3149	HMGB3	OMIM:300915
HP:0009121	Abnormal axial skeleton morphology	284403	WDR62	OMIM:604317
HP:0009121	Abnormal axial skeleton morphology	284403	WDR62	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	23250	ATP11A	OMIM:619851
HP:0009121	Abnormal axial skeleton morphology	1020	CDK5	OMIM:616342
HP:0009121	Abnormal axial skeleton morphology	1716	DGUOK	OMIM:251880
HP:0009121	Abnormal axial skeleton morphology	788	SLC25A20	ORPHA:159
HP:0009121	Abnormal axial skeleton morphology	55773	TBC1D23	OMIM:617695
HP:0009121	Abnormal axial skeleton morphology	51692	CPSF3	OMIM:619876
HP:0009121	Abnormal axial skeleton morphology	116115	ZNF526	OMIM:619877
HP:0009121	Abnormal axial skeleton morphology	4285	MIPEP	OMIM:617228
HP:0009121	Abnormal axial skeleton morphology	5354	PLP1	OMIM:312080
HP:0009121	Abnormal axial skeleton morphology	3798	KIF5A	OMIM:617235
HP:0009121	Abnormal axial skeleton morphology	57679	ALS2	OMIM:205100
HP:0009121	Abnormal axial skeleton morphology	57679	ALS2	ORPHA:300605
HP:0009121	Abnormal axial skeleton morphology	8565	YARS1	OMIM:619418
HP:0009121	Abnormal axial skeleton morphology	374969	SVBP	OMIM:618569
HP:0009121	Abnormal axial skeleton morphology	55656	INTS8	OMIM:618572
HP:0009121	Abnormal axial skeleton morphology	165918	RNF168	OMIM:611943
HP:0009121	Abnormal axial skeleton morphology	165918	RNF168	ORPHA:420741
HP:0009121	Abnormal axial skeleton morphology	84894	LINGO1	OMIM:618103
HP:0009121	Abnormal axial skeleton morphology	123606	NIPA1	ORPHA:261183
HP:0009121	Abnormal axial skeleton morphology	7283	TUBG1	ORPHA:261183
HP:0009121	Abnormal axial skeleton morphology	7283	TUBG1	OMIM:615412
HP:0009121	Abnormal axial skeleton morphology	81614	NIPA2	ORPHA:261183
HP:0009121	Abnormal axial skeleton morphology	8473	OGT	OMIM:300997
HP:0009121	Abnormal axial skeleton morphology	1120	CHKB	OMIM:602541
HP:0009121	Abnormal axial skeleton morphology	3778	KCNMA1	OMIM:618596
HP:0009121	Abnormal axial skeleton morphology	5053	PAH	OMIM:261600
HP:0009121	Abnormal axial skeleton morphology	5053	PAH	ORPHA:79254
HP:0009121	Abnormal axial skeleton morphology	5053	PAH	ORPHA:2209
HP:0009121	Abnormal axial skeleton morphology	27341	RRP7A	OMIM:619453
HP:0009121	Abnormal axial skeleton morphology	6821	SUOX	OMIM:272300
HP:0009121	Abnormal axial skeleton morphology	84065	TMEM222	OMIM:619470
HP:0009121	Abnormal axial skeleton morphology	55651	NHP2	OMIM:224230
HP:0009121	Abnormal axial skeleton morphology	55505	NOP10	OMIM:224230
HP:0009121	Abnormal axial skeleton morphology	3643	INSR	ORPHA:508
HP:0009121	Abnormal axial skeleton morphology	60676	PAPPA2	OMIM:619489
HP:0009121	Abnormal axial skeleton morphology	1654	DDX3X	OMIM:300958
HP:0009121	Abnormal axial skeleton morphology	1654	DDX3X	ORPHA:457260
HP:0009121	Abnormal axial skeleton morphology	7284	TUFM	OMIM:610678
HP:0009121	Abnormal axial skeleton morphology	407975	MIR17HG	ORPHA:391646
HP:0009121	Abnormal axial skeleton morphology	5805	PTS	OMIM:261640
HP:0009121	Abnormal axial skeleton morphology	63899	NSUN3	OMIM:619012
HP:0009121	Abnormal axial skeleton morphology	2193	FARSA	OMIM:619013
HP:0009121	Abnormal axial skeleton morphology	54936	ADPRS	OMIM:618170
HP:0009121	Abnormal axial skeleton morphology	9562	MINPP1	ORPHA:284339
HP:0009121	Abnormal axial skeleton morphology	64432	MRPS25	OMIM:619025
HP:0009121	Abnormal axial skeleton morphology	123263	MTFMT	OMIM:614947
HP:0009121	Abnormal axial skeleton morphology	4552	MTRR	ORPHA:2169
HP:0009121	Abnormal axial skeleton morphology	80055	PGAP1	OMIM:615802
HP:0009121	Abnormal axial skeleton morphology	57582	KCNT1	OMIM:614959
HP:0009121	Abnormal axial skeleton morphology	8913	CACNA1G	OMIM:618087
HP:0009121	Abnormal axial skeleton morphology	23325	WASHC4	OMIM:615817
HP:0009121	Abnormal axial skeleton morphology	7156	TOP3A	OMIM:618097
HP:0009121	Abnormal axial skeleton morphology	5063	PAK3	OMIM:300558
HP:0009121	Abnormal axial skeleton morphology	219285	SAMD9L	ORPHA:2585
HP:0009121	Abnormal axial skeleton morphology	3176	HNMT	OMIM:616739
HP:0009121	Abnormal axial skeleton morphology	3796	KIF2A	OMIM:615411
HP:0009121	Abnormal axial skeleton morphology	1911	PHC1	OMIM:615414
HP:0009121	Abnormal axial skeleton morphology	1911	PHC1	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	100506658	OCLN	ORPHA:1229
HP:0009121	Abnormal axial skeleton morphology	100506658	OCLN	OMIM:251290
HP:0009121	Abnormal axial skeleton morphology	81689	ISCA1	OMIM:617613
HP:0009121	Abnormal axial skeleton morphology	55617	TASP1	OMIM:618950
HP:0009121	Abnormal axial skeleton morphology	60528	ELAC2	OMIM:615440
HP:0009121	Abnormal axial skeleton morphology	7991	TUSC3	OMIM:611093
HP:0009121	Abnormal axial skeleton morphology	1804	DPP6	ORPHA:2514
HP:0009121	Abnormal axial skeleton morphology	1804	DPP6	OMIM:616311
HP:0009121	Abnormal axial skeleton morphology	8192	CLPP	OMIM:614129
HP:0009121	Abnormal axial skeleton morphology	11113	CIT	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	9928	KIF14	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	9928	KIF14	OMIM:616258
HP:0009121	Abnormal axial skeleton morphology	9928	KIF14	OMIM:617914
HP:0009121	Abnormal axial skeleton morphology	55262	TRAPPC14	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	163786	SASS6	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	4176	MCM7	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	80254	CEP63	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	23310	NCAPD3	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	23310	NCAPD3	OMIM:617984
HP:0009121	Abnormal axial skeleton morphology	79648	MCPH1	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	23141	ANKLE2	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	57082	KNL1	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	1021	CDK6	ORPHA:2512
HP:0009121	Abnormal axial skeleton morphology	55367	PIDD1	OMIM:619827
HP:0009121	Abnormal axial skeleton morphology	10749	KIF1C	ORPHA:397946
HP:0009121	Abnormal axial skeleton morphology	91942	NDUFAF2	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4716	NDUFB10	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	284184	NDUFAF8	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	55863	TMEM126B	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4535	MT-ND1	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4537	MT-ND3	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4694	NDUFA1	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4720	NDUFS2	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4726	NDUFS6	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4728	NDUFS8	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4722	NDUFS3	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	79133	NDUFAF5	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4709	NDUFB3	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	80224	NUBPL	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	374291	NDUFS7	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4700	NDUFA6	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4536	MT-ND2	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4715	NDUFB9	ORPHA:2609
HP:0009121	Abnormal axial skeleton morphology	4056	LTC4S	OMIM:614037
HP:0009121	Abnormal axial skeleton morphology	72	ACTG2	ORPHA:2604
HP:0009121	Abnormal axial skeleton morphology	472	ATM	OMIM:208900
HP:0009121	Abnormal axial skeleton morphology	5610	EIF2AK2	OMIM:618877
HP:0009121	Abnormal axial skeleton morphology	3781	KCNN2	OMIM:619725
HP:0009121	Abnormal axial skeleton morphology	2590	GALNT2	OMIM:618885
HP:0009121	Abnormal axial skeleton morphology	23761	PISD	OMIM:618889
HP:0009121	Abnormal axial skeleton morphology	55703	POLR3B	OMIM:619742
HP:0009121	Abnormal axial skeleton morphology	5442	POLRMT	OMIM:619743
HP:0009121	Abnormal axial skeleton morphology	25930	PTPN23	OMIM:618890
HP:0009121	Abnormal axial skeleton morphology	8879	SGPL1	OMIM:617575
HP:0009121	Abnormal axial skeleton morphology	8021	NUP214	OMIM:618426
HP:0009121	Abnormal axial skeleton morphology	57724	EPG5	OMIM:242840
HP:0009121	Abnormal axial skeleton morphology	10195	ALG3	ORPHA:79321
HP:0009121	Abnormal axial skeleton morphology	10195	ALG3	OMIM:601110
HP:0009121	Abnormal axial skeleton morphology	8295	TRRAP	OMIM:618454
HP:0009121	Abnormal axial skeleton morphology	6878	TAF6	OMIM:617126
HP:0009121	Abnormal axial skeleton morphology	51728	POLR3K	OMIM:619310
HP:0009121	Abnormal axial skeleton morphology	85476	GFM1	OMIM:609060
HP:0009121	Abnormal axial skeleton morphology	221496	LEMD2	OMIM:619322
HP:0009121	Abnormal axial skeleton morphology	8882	ZPR1	OMIM:619321
HP:0009121	Abnormal axial skeleton morphology	4081	MAB21L1	OMIM:618479
HP:0009121	Abnormal axial skeleton morphology	8869	ST3GAL5	OMIM:609056
HP:0009121	Abnormal axial skeleton morphology	79641	ROGDI	OMIM:226750
HP:0009121	Abnormal axial skeleton morphology	7965	AIMP2	OMIM:618006
HP:0009121	Abnormal axial skeleton morphology	1781	DYNC1I2	OMIM:618492
HP:0009121	Abnormal axial skeleton morphology	191	AHCY	ORPHA:88618
HP:0009121	Abnormal axial skeleton morphology	26276	VPS33B	OMIM:208085
HP:0009121	Abnormal axial skeleton morphology	5281	PIGF	OMIM:619356
HP:0009121	Abnormal axial skeleton morphology	29926	GMPPA	ORPHA:869
HP:0009121	Abnormal axial skeleton morphology	10681	GNB5	OMIM:617182
HP:0009121	Abnormal axial skeleton morphology	79143	MBOAT7	OMIM:617188
HP:0009121	Abnormal axial skeleton morphology	5080	PAX6	ORPHA:893
HP:0009121	Abnormal axial skeleton morphology	627	BDNF	ORPHA:893
HP:0009121	Abnormal axial skeleton morphology	23554	TSPAN12	ORPHA:891
HP:0009121	Abnormal axial skeleton morphology	79797	ZNF408	ORPHA:891
HP:0009121	Abnormal axial skeleton morphology	8322	FZD4	ORPHA:891
HP:0009121	Abnormal axial skeleton morphology	4702	NDUFA8	OMIM:619272
HP:0009121	Abnormal axial skeleton morphology	27183	VPS4A	OMIM:619273
HP:0009121	Abnormal axial skeleton morphology	81555	YIPF5	OMIM:619278
HP:0009121	Abnormal axial skeleton morphology	55532	SLC30A10	ORPHA:309854
HP:0009121	Abnormal axial skeleton morphology	36	ACADSB	OMIM:610006
HP:0009121	Abnormal axial skeleton morphology	8546	AP3B1	OMIM:608233
HP:0009121	Abnormal axial skeleton morphology	197257	LDHD	OMIM:245450
HP:0009121	Abnormal axial skeleton morphology	9255	AIMP1	OMIM:260600
HP:0009121	Abnormal axial skeleton morphology	375748	ERCC6L2	OMIM:615715
HP:0009121	Abnormal axial skeleton morphology	2521	FUS	ORPHA:300605
HP:0009121	Abnormal axial skeleton morphology	80208	SPG11	ORPHA:300605
HP:0009121	Abnormal axial skeleton morphology	10280	SIGMAR1	ORPHA:300605
HP:0009121	Abnormal axial skeleton morphology	10558	SPTLC1	ORPHA:300605
HP:0009121	Abnormal axial skeleton morphology	162417	NAGS	ORPHA:927
HP:0009121	Abnormal axial skeleton morphology	50628	GEMIN4	OMIM:617913
HP:0009121	Abnormal axial skeleton morphology	4173	MCM4	OMIM:609981
HP:0009121	Abnormal axial skeleton morphology	55187	VPS13D	OMIM:607317
HP:0009121	Abnormal axial skeleton morphology	5429	POLH	OMIM:278750
HP:0009121	Abnormal axial skeleton morphology	101929726	MYMX	ORPHA:1358
HP:0009121	Abnormal axial skeleton morphology	2058	EPRS1	OMIM:617951
HP:0009121	Abnormal axial skeleton morphology	1063	CENPF	OMIM:243605
HP:0009121	Abnormal axial skeleton morphology	20	ABCA2	OMIM:618808
HP:0009121	Abnormal axial skeleton morphology	1729	DIAPH1	OMIM:616632
HP:0009121	Abnormal axial skeleton morphology	6785	ELOVL4	OMIM:614457
HP:0009121	Abnormal axial skeleton morphology	27010	TPK1	OMIM:614458
HP:0009121	Abnormal axial skeleton morphology	2584	GALK1	ORPHA:79237
HP:0009121	Abnormal axial skeleton morphology	11019	LIAS	OMIM:614462
HP:0009121	Abnormal axial skeleton morphology	3704	ITPA	OMIM:616647
HP:0009121	Abnormal axial skeleton morphology	56270	WDR45B	OMIM:617977
HP:0009121	Abnormal axial skeleton morphology	54870	QRICH1	OMIM:617982
HP:0009121	Abnormal axial skeleton morphology	23397	NCAPH	OMIM:617985
HP:0009121	Abnormal axial skeleton morphology	25974	MMACHC	ORPHA:79282
HP:0009121	Abnormal axial skeleton morphology	25974	MMACHC	OMIM:277400
HP:0009121	Abnormal axial skeleton morphology	51733	UPB1	OMIM:613161
HP:0009121	Abnormal axial skeleton morphology	23001	WDFY3	OMIM:617520
HP:0009121	Abnormal axial skeleton morphology	35	ACADS	ORPHA:26792
HP:0009121	Abnormal axial skeleton morphology	5052	PRDX1	OMIM:277400
HP:0009121	Abnormal axial skeleton morphology	1267	CNP	OMIM:619071
HP:0009121	Abnormal axial skeleton morphology	10617	STAMBP	OMIM:614261
HP:0009121	Abnormal axial skeleton morphology	91452	ACBD5	OMIM:618863
HP:0009121	Abnormal axial skeleton morphology	84879	MFSD2A	OMIM:616486
HP:0009121	Abnormal axial skeleton morphology	51660	MPC1	OMIM:614741
HP:0009121	Abnormal axial skeleton morphology	10564	ARFGEF2	OMIM:608097
HP:0009121	Abnormal axial skeleton morphology	4719	NDUFS1	OMIM:618226
HP:0009121	Abnormal axial skeleton morphology	55627	SMPD4	OMIM:618622
HP:0009121	Abnormal axial skeleton morphology	5393	EXOSC9	ORPHA:2254
HP:0009121	Abnormal axial skeleton morphology	23287	AGTPBP1	ORPHA:2254
HP:0009121	Abnormal axial skeleton morphology	51010	EXOSC3	ORPHA:2254
HP:0009121	Abnormal axial skeleton morphology	51010	EXOSC3	OMIM:614678
HP:0009121	Abnormal axial skeleton morphology	91137	SLC25A46	ORPHA:2254
HP:0009121	Abnormal axial skeleton morphology	51091	SEPSECS	OMIM:613811
HP:0009121	Abnormal axial skeleton morphology	51091	SEPSECS	ORPHA:2524
HP:0009121	Abnormal axial skeleton morphology	132158	GLYCTK	ORPHA:941
HP:0009121	Abnormal axial skeleton morphology	122553	TRAPPC6B	OMIM:617862
HP:0009121	Abnormal axial skeleton morphology	5859	QARS1	OMIM:615760
HP:0009121	Abnormal axial skeleton morphology	116461	TSEN15	OMIM:617026
HP:0009121	Abnormal axial skeleton morphology	116461	TSEN15	ORPHA:2524
HP:0009121	Abnormal axial skeleton morphology	51741	WWOX	OMIM:616211
HP:0009121	Abnormal axial skeleton morphology	283989	TSEN54	ORPHA:2524
HP:0009121	Abnormal axial skeleton morphology	283989	TSEN54	OMIM:277470
HP:0009121	Abnormal axial skeleton morphology	79042	TSEN34	ORPHA:2524
HP:0009121	Abnormal axial skeleton morphology	80746	TSEN2	ORPHA:2524
HP:0009121	Abnormal axial skeleton morphology	80746	TSEN2	OMIM:612389
HP:0009121	Abnormal axial skeleton morphology	4190	MDH1	OMIM:618959
HP:0009121	Abnormal axial skeleton morphology	6334	SCN8A	OMIM:614558
HP:0009121	Abnormal axial skeleton morphology	50	ACO2	OMIM:614559
HP:0009121	Abnormal axial skeleton morphology	57038	RARS2	OMIM:611523
HP:0009121	Abnormal axial skeleton morphology	54862	CC2D1A	OMIM:608443
HP:0009121	Abnormal axial skeleton morphology	2891	GRIA2	OMIM:618917
HP:0009121	Abnormal axial skeleton morphology	63908	NAPB	OMIM:620033
HP:0009121	Abnormal axial skeleton morphology	440	ASNS	OMIM:615574
HP:0009121	Abnormal axial skeleton morphology	6709	SPTAN1	OMIM:613477
HP:0009121	Abnormal axial skeleton morphology	2806	GOT2	OMIM:618721
HP:0009121	Abnormal axial skeleton morphology	51294	PCDH12	OMIM:251280
HP:0009121	Abnormal axial skeleton morphology	83480	PUS3	ORPHA:488627
HP:0009121	Abnormal axial skeleton morphology	2801	GOLGA2	OMIM:620240
HP:0009121	Abnormal axial skeleton morphology	55163	PNPO	OMIM:610090
HP:0009121	Abnormal axial skeleton morphology	10844	TUBGCP2	OMIM:618737
HP:0009121	Abnormal axial skeleton morphology	84342	COG8	ORPHA:95428
HP:0009121	Abnormal axial skeleton morphology	11284	PNKP	OMIM:613402
HP:0009121	Abnormal axial skeleton morphology	27445	PCLO	OMIM:608027
HP:0009121	Abnormal axial skeleton morphology	8036	SHOC2	OMIM:607721
HP:0009121	Abnormal axial skeleton morphology	3008	H1-4	OMIM:617537
HP:0009121	Abnormal axial skeleton morphology	91801	ALKBH8	OMIM:618504
HP:0009121	Abnormal axial skeleton morphology	3703	STT3A	OMIM:619714
HP:0009121	Abnormal axial skeleton morphology	5457	POU4F1	ORPHA:314647
HP:0009121	Abnormal axial skeleton morphology	23261	CAMTA1	ORPHA:314647
HP:0009121	Abnormal axial skeleton morphology	23261	CAMTA1	OMIM:614756
HP:0009121	Abnormal axial skeleton morphology	51111	KMT5B	OMIM:617788
HP:0009121	Abnormal axial skeleton morphology	10730	YME1L1	OMIM:617302
HP:0009121	Abnormal axial skeleton morphology	55904	KMT2E	OMIM:618512
HP:0009121	Abnormal axial skeleton morphology	818	CAMK2G	OMIM:618522
HP:0009121	Abnormal axial skeleton morphology	54453	RIN2	OMIM:613075
HP:0009121	Abnormal axial skeleton morphology	815	CAMK2A	OMIM:617798
HP:0009121	Abnormal axial skeleton morphology	10381	TUBB3	ORPHA:300570
HP:0009121	Abnormal axial skeleton morphology	10381	TUBB3	ORPHA:467166
HP:0009121	Abnormal axial skeleton morphology	1183	CLCN4	ORPHA:485350
HP:0009121	Abnormal axial skeleton morphology	84100	ARL6	OMIM:209900
HP:0009121	Abnormal axial skeleton morphology	79140	CCDC28B	OMIM:209900
HP:0009121	Abnormal axial skeleton morphology	582	BBS1	OMIM:209900
HP:0009121	Abnormal axial skeleton morphology	55109	AGGF1	ORPHA:90308
HP:0009121	Abnormal axial skeleton morphology	93627	TBCK	ORPHA:488632
HP:0009121	Abnormal axial skeleton morphology	93627	TBCK	OMIM:616900
HP:0009121	Abnormal axial skeleton morphology	26057	ANKRD17	OMIM:619504
HP:0009121	Abnormal axial skeleton morphology	2773	GNAI3	OMIM:602483
HP:0009121	Abnormal axial skeleton morphology	2773	GNAI3	ORPHA:137888
HP:0009121	Abnormal axial skeleton morphology	11285	B4GALT7	OMIM:130070
HP:0009121	Abnormal axial skeleton morphology	11285	B4GALT7	ORPHA:75496
HP:0009121	Abnormal axial skeleton morphology	57680	CHD8	OMIM:615032
HP:0009121	Abnormal axial skeleton morphology	100128927	ZBTB42	OMIM:616248
HP:0009121	Abnormal axial skeleton morphology	285362	SUMF1	ORPHA:585
HP:0009121	Abnormal axial skeleton morphology	9158	FIBP	OMIM:617107
HP:0009121	Abnormal axial skeleton morphology	9158	FIBP	ORPHA:500095
HP:0009121	Abnormal axial skeleton morphology	200424	TET3	OMIM:618798
HP:0009121	Abnormal axial skeleton morphology	9772	TMEM94	OMIM:618316
HP:0009121	Abnormal axial skeleton morphology	51341	ZBTB7A	OMIM:619769
HP:0009121	Abnormal axial skeleton morphology	4626	MYH8	OMIM:158300
HP:0009121	Abnormal axial skeleton morphology	2239	GPC4	ORPHA:373
HP:0009121	Abnormal axial skeleton morphology	2239	GPC4	OMIM:312870
HP:0009121	Abnormal axial skeleton morphology	2239	GPC4	OMIM:301026
HP:0009121	Abnormal axial skeleton morphology	2239	GPC4	ORPHA:2662
HP:0009121	Abnormal axial skeleton morphology	2719	GPC3	ORPHA:373
HP:0009121	Abnormal axial skeleton morphology	2719	GPC3	OMIM:312870
HP:0009121	Abnormal axial skeleton morphology	4123	MAN2C1	OMIM:619775
HP:0009121	Abnormal axial skeleton morphology	54941	RNF125	OMIM:616260
HP:0009121	Abnormal axial skeleton morphology	80173	IFT74	OMIM:617119
HP:0009121	Abnormal axial skeleton morphology	1967	EIF2B1	OMIM:603896
HP:0009121	Abnormal axial skeleton morphology	6654	SOS1	OMIM:610733
HP:0009121	Abnormal axial skeleton morphology	79944	L2HGDH	ORPHA:79314
HP:0009121	Abnormal axial skeleton morphology	3912	LAMB1	OMIM:615191
HP:0009121	Abnormal axial skeleton morphology	4723	NDUFV1	OMIM:618225
HP:0009121	Abnormal axial skeleton morphology	92335	STRADA	ORPHA:500533
HP:0009121	Abnormal axial skeleton morphology	92335	STRADA	OMIM:611087
HP:0009121	Abnormal axial skeleton morphology	650	BMP2	ORPHA:261295
HP:0009121	Abnormal axial skeleton morphology	1193	CLIC2	OMIM:300886
HP:0009121	Abnormal axial skeleton morphology	79868	ALG13	OMIM:300884
HP:0009121	Abnormal axial skeleton morphology	23729	SHPK	ORPHA:440713
HP:0009121	Abnormal axial skeleton morphology	51114	ZDHHC9	ORPHA:776
HP:0009121	Abnormal axial skeleton morphology	65109	UPF3B	ORPHA:776
HP:0009121	Abnormal axial skeleton morphology	65109	UPF3B	OMIM:300676
HP:0009121	Abnormal axial skeleton morphology	84892	POMGNT2	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	148789	B3GALNT2	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	1282	COL4A1	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	10329	RXYLT1	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	1605	DAG1	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	1605	DAG1	OMIM:616538
HP:0009121	Abnormal axial skeleton morphology	11041	B4GAT1	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	84197	POMK	ORPHA:899
HP:0009121	Abnormal axial skeleton morphology	347733	TUBB2B	ORPHA:467166
HP:0009121	Abnormal axial skeleton morphology	7846	TUBA1A	ORPHA:467166
HP:0009121	Abnormal axial skeleton morphology	57551	TAOK1	OMIM:619575
HP:0009121	Abnormal axial skeleton morphology	3756	KCNH1	OMIM:135500
HP:0009121	Abnormal axial skeleton morphology	1108	CHD4	OMIM:617159
HP:0009121	Abnormal axial skeleton morphology	84188	FAR1	OMIM:619338
HP:0009121	Abnormal axial skeleton morphology	10483	SEC23B	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	10483	SEC23B	OMIM:616858
HP:0009121	Abnormal axial skeleton morphology	6390	SDHB	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	6392	SDHD	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	6391	SDHC	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	205717	USF3	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	100144748	KLLN	ORPHA:201
HP:0009121	Abnormal axial skeleton morphology	100144748	KLLN	OMIM:615107
HP:0009121	Abnormal axial skeleton morphology	7319	UBE2A	OMIM:300860
HP:0009121	Abnormal axial skeleton morphology	7319	UBE2A	ORPHA:163956
HP:0009121	Abnormal axial skeleton morphology	1760	DMPK	ORPHA:589821
HP:0009121	Abnormal axial skeleton morphology	2009	EML1	OMIM:600348
HP:0009121	Abnormal axial skeleton morphology	5277	PIGA	OMIM:300868
HP:0009121	Abnormal axial skeleton morphology	2683	B4GALT1	OMIM:607091
HP:0009121	Abnormal axial skeleton morphology	220296	HEPACAM	OMIM:613925
HP:0009121	Abnormal axial skeleton morphology	220296	HEPACAM	OMIM:613926
HP:0009121	Abnormal axial skeleton morphology	220296	HEPACAM	OMIM:604004
HP:0009121	Abnormal axial skeleton morphology	8812	CCNK	OMIM:618147
HP:0009121	Abnormal axial skeleton morphology	2892	GRIA3	ORPHA:364028
HP:0009121	Abnormal axial skeleton morphology	2892	GRIA3	OMIM:300699
HP:0009121	Abnormal axial skeleton morphology	6711	SPTBN1	OMIM:619475
HP:0009121	Abnormal axial skeleton morphology	6608	SMO	OMIM:241800
HP:0009121	Abnormal axial skeleton morphology	6513	SLC2A1	ORPHA:168577
HP:0009121	Abnormal axial skeleton morphology	10653	SPINT2	OMIM:270420
HP:0009121	Abnormal axial skeleton morphology	2571	GAD1	OMIM:619124
HP:0009121	Abnormal axial skeleton morphology	23112	TNRC6B	OMIM:619243
HP:0009121	Abnormal axial skeleton morphology	288	ANK3	ORPHA:356996
HP:0009121	Abnormal axial skeleton morphology	6853	SYN1	ORPHA:85294
HP:0009121	Abnormal axial skeleton morphology	6853	SYN1	OMIM:300491
HP:0009121	Abnormal axial skeleton morphology	777	CACNA1E	OMIM:618285
HP:0009121	Abnormal axial skeleton morphology	8242	KDM5C	ORPHA:85279
HP:0009121	Abnormal axial skeleton morphology	8242	KDM5C	OMIM:300534
HP:0009121	Abnormal axial skeleton morphology	4781	NFIB	OMIM:618286
HP:0009121	Abnormal axial skeleton morphology	1496	CTNNA2	OMIM:618174
HP:0009121	Abnormal axial skeleton morphology	161742	SPRED1	ORPHA:137605
HP:0009121	Abnormal axial skeleton morphology	161742	SPRED1	OMIM:611431
HP:0009121	Abnormal axial skeleton morphology	25886	POC1A	OMIM:614813
HP:0009121	Abnormal axial skeleton morphology	55294	FBXW7	OMIM:620012
HP:0009121	Abnormal axial skeleton morphology	7337	UBE3A	ORPHA:238446
HP:0009121	Abnormal axial skeleton morphology	894	CCND2	ORPHA:83473
HP:0009121	Abnormal axial skeleton morphology	894	CCND2	OMIM:615938
HP:0009121	Abnormal axial skeleton morphology	10000	AKT3	ORPHA:83473
HP:0009121	Abnormal axial skeleton morphology	10000	AKT3	ORPHA:99802
HP:0009121	Abnormal axial skeleton morphology	10000	AKT3	OMIM:615937
HP:0009121	Abnormal axial skeleton morphology	84282	RNF135	ORPHA:137634
HP:0009121	Abnormal axial skeleton morphology	118429	ANTXR2	ORPHA:2176
HP:0009121	Abnormal axial skeleton morphology	8854	ALDH1A2	OMIM:620025
HP:0009121	Abnormal axial skeleton morphology	9739	SETD1A	OMIM:619056
HP:0009121	Abnormal axial skeleton morphology	80204	FBXO11	OMIM:618089
HP:0009121	Abnormal axial skeleton morphology	3070	HELLS	ORPHA:2268
HP:0009121	Abnormal axial skeleton morphology	83879	CDCA7	ORPHA:2268
HP:0009121	Abnormal axial skeleton morphology	5332	PLCB4	ORPHA:137888
HP:0009121	Abnormal axial skeleton morphology	5332	PLCB4	OMIM:614669
HP:0009121	Abnormal axial skeleton morphology	1802	DPH2	OMIM:620062
HP:0009121	Abnormal axial skeleton morphology	81031	SLC2A10	ORPHA:3342
HP:0009121	Abnormal axial skeleton morphology	22859	ADGRL1	OMIM:620065
HP:0009121	Abnormal axial skeleton morphology	6609	SMPD1	OMIM:257200
HP:0009121	Abnormal axial skeleton morphology	6558	SLC12A2	OMIM:619081
HP:0009121	Abnormal axial skeleton morphology	9568	GABBR2	OMIM:617903
HP:0009121	Abnormal axial skeleton morphology	9555	MACROH2A1	ORPHA:1275
HP:0009121	Abnormal axial skeleton morphology	5307	PITX1	ORPHA:1275
HP:0009121	Abnormal axial skeleton morphology	5340	PLG	OMIM:217090
HP:0009121	Abnormal axial skeleton morphology	6598	SMARCB1	ORPHA:99966
HP:0009121	Abnormal axial skeleton morphology	34	ACADM	ORPHA:42
HP:0009121	Abnormal axial skeleton morphology	26047	CNTNAP2	OMIM:610042
HP:0009121	Abnormal axial skeleton morphology	2776	GNAQ	ORPHA:3205
HP:0009121	Abnormal axial skeleton morphology	2776	GNAQ	OMIM:185300
HP:0009121	Abnormal axial skeleton morphology	23590	PDSS1	OMIM:614651
HP:0009121	Abnormal axial skeleton morphology	10075	HUWE1	OMIM:309590
HP:0009121	Abnormal axial skeleton morphology	84627	ZNF469	OMIM:229200
HP:0009121	Abnormal axial skeleton morphology	10586	MAB21L2	OMIM:615877
HP:0009121	Abnormal axial skeleton morphology	85358	SHANK3	OMIM:606232
HP:0009121	Abnormal axial skeleton morphology	85358	SHANK3	ORPHA:48652
HP:0009121	Abnormal axial skeleton morphology	2334	AFF2	ORPHA:100973
HP:0009121	Abnormal axial skeleton morphology	3074	HEXB	OMIM:268800
HP:0009121	Abnormal axial skeleton morphology	84162	BLTP1	OMIM:617822
HP:0009121	Abnormal axial skeleton morphology	2782	GNB1	OMIM:616973
HP:0009121	Abnormal axial skeleton morphology	5339	PLEC	OMIM:612138
HP:0009121	Abnormal axial skeleton morphology	64221	ROBO3	OMIM:607313
HP:0009121	Abnormal axial skeleton morphology	6907	TBL1X	OMIM:301033
HP:0009121	Abnormal axial skeleton morphology	57572	DOCK6	OMIM:614219
HP:0009121	Abnormal axial skeleton morphology	3747	KCNC2	OMIM:619913
HP:0009121	Abnormal axial skeleton morphology	4659	PPP1R12A	OMIM:618820
HP:0009121	Abnormal axial skeleton morphology	91461	PKDCC	OMIM:618821
HP:0009121	Abnormal axial skeleton morphology	23209	MLC1	OMIM:604004
HP:0009121	Abnormal axial skeleton morphology	57688	ZSWIM6	OMIM:617865
HP:0009121	Abnormal axial skeleton morphology	5879	RAC1	OMIM:617751
HP:0009121	Abnormal axial skeleton morphology	5879	RAC1	ORPHA:500159
HP:0009121	Abnormal axial skeleton morphology	8139	GAN	OMIM:256850
HP:0009121	Abnormal axial skeleton morphology	2639	GCDH	OMIM:231670
HP:0009121	Abnormal axial skeleton morphology	37	ACADVL	ORPHA:26793
HP:0009121	Abnormal axial skeleton morphology	4204	MECP2	OMIM:300260
HP:0009121	Abnormal axial skeleton morphology	9526	MPDU1	OMIM:609180
HP:0009121	Abnormal axial skeleton morphology	9526	MPDU1	ORPHA:79323
HP:0009121	Abnormal axial skeleton morphology	170302	ARX	OMIM:300215
HP:0009121	Abnormal axial skeleton morphology	25915	NDUFAF3	OMIM:618240
HP:0009121	Abnormal axial skeleton morphology	1147	CHUK	OMIM:619339
HP:0009121	Abnormal axial skeleton morphology	7490	WT1	OMIM:194080
HP:0009121	Abnormal axial skeleton morphology	4036	LRP2	ORPHA:2143
HP:0009121	Abnormal axial skeleton morphology	4036	LRP2	OMIM:222448
HP:0009121	Abnormal axial skeleton morphology	8642	DCHS1	OMIM:601390
HP:0009121	Abnormal axial skeleton morphology	5193	PEX12	OMIM:614859
HP:0009121	Abnormal axial skeleton morphology	5193	PEX12	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	5193	PEX12	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	54888	NSUN2	ORPHA:235
HP:0009121	Abnormal axial skeleton morphology	56006	SMG9	OMIM:616920
HP:0009121	Abnormal axial skeleton morphology	5828	PEX2	OMIM:614866
HP:0009121	Abnormal axial skeleton morphology	5828	PEX2	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	5828	PEX2	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	9091	PIGQ	OMIM:618548
HP:0009121	Abnormal axial skeleton morphology	55670	PEX26	OMIM:614872
HP:0009121	Abnormal axial skeleton morphology	55670	PEX26	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	55670	PEX26	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	8504	PEX3	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	8504	PEX3	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	9409	PEX16	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	9409	PEX16	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	5190	PEX6	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	5190	PEX6	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	8799	PEX11B	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	8799	PEX11B	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	5194	PEX13	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	5194	PEX13	OMIM:614883
HP:0009121	Abnormal axial skeleton morphology	5194	PEX13	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	5192	PEX10	ORPHA:44
HP:0009121	Abnormal axial skeleton morphology	5192	PEX10	ORPHA:912
HP:0009121	Abnormal axial skeleton morphology	57020	VPS35L	OMIM:619135
HP:0009121	Abnormal axial skeleton morphology	10491	CRTAP	OMIM:610682
HP:0009121	Abnormal axial skeleton morphology	4052	LTBP1	ORPHA:90349
HP:0009121	Abnormal axial skeleton morphology	30008	EFEMP2	ORPHA:90349
HP:0009121	Abnormal axial skeleton morphology	10516	FBLN5	ORPHA:90349
HP:0009121	Abnormal axial skeleton morphology	56160	NSMCE3	OMIM:617241
HP:0009121	Abnormal axial skeleton morphology	7252	TSHB	OMIM:275100
HP:0009121	Abnormal axial skeleton morphology	6888	TALDO1	OMIM:606003
HP:0009121	Abnormal axial skeleton morphology	2108	ETFA	OMIM:231680
HP:0009121	Abnormal axial skeleton morphology	2109	ETFB	OMIM:231680
HP:0009121	Abnormal axial skeleton morphology	2110	ETFDH	OMIM:231680
HP:0009121	Abnormal axial skeleton morphology	865	CBFB	OMIM:620099
HP:0009121	Abnormal axial skeleton morphology	55612	FERMT1	ORPHA:2908
HP:0009121	Abnormal axial skeleton morphology	2879	GPX4	ORPHA:93317
HP:0009121	Abnormal axial skeleton morphology	2879	GPX4	OMIM:250220
HP:0009121	Abnormal axial skeleton morphology	80036	TRPM3	OMIM:620224
HP:0009121	Abnormal axial skeleton morphology	1312	COMT	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	221037	JMJD1C	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	2812	GP1BB	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	6239	RREB1	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	7290	HIRA	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	9632	SEC24C	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	7353	UFD1	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	421	ARVCF	ORPHA:567
HP:0009121	Abnormal axial skeleton morphology	4330	MN1	OMIM:618774
HP:0009121	Abnormal axial skeleton morphology	23030	KDM4B	OMIM:619320
HP:0009121	Abnormal axial skeleton morphology	9990	SLC12A6	ORPHA:1496
HP:0009121	Abnormal axial skeleton morphology	10892	MALT1	OMIM:615468
HP:0009121	Abnormal axial skeleton morphology	5896	RAG1	OMIM:601457
HP:0009121	Abnormal axial skeleton morphology	5897	RAG2	OMIM:601457
HP:0009121	Abnormal axial skeleton morphology	7174	TPP2	OMIM:619220
HP:0009121	Abnormal axial skeleton morphology	128	ADH5	OMIM:619151
HP:0009121	Abnormal axial skeleton morphology	28981	IFT81	OMIM:617895
HP:0009121	Abnormal axial skeleton morphology	9853	RUSC2	OMIM:617773
HP:0009121	Abnormal axial skeleton morphology	23135	KDM6B	OMIM:618505
HP:0009121	Abnormal axial skeleton morphology	51126	NAA20	OMIM:619717
HP:0009121	Abnormal axial skeleton morphology	23118	TAB2	ORPHA:228410
HP:0009121	Abnormal axial skeleton morphology	22858	CILK1	OMIM:612651
HP:0009121	Abnormal axial skeleton morphology	23327	NEDD4L	OMIM:617201
HP:0009121	Abnormal axial skeleton morphology	4598	MVK	OMIM:610377
HP:0009121	Abnormal axial skeleton morphology	4598	MVK	ORPHA:29
HP:0009121	Abnormal axial skeleton morphology	253738	EBF3	OMIM:617330
HP:0009121	Abnormal axial skeleton morphology	23312	DMXL2	OMIM:618663
HP:0009121	Abnormal axial skeleton morphology	7701	ZNF142	OMIM:618425
HP:0009121	Abnormal axial skeleton morphology	6134	RPL10	ORPHA:459070
HP:0009121	Abnormal axial skeleton morphology	6134	RPL10	OMIM:300998
HP:0009121	Abnormal axial skeleton morphology	5700	PSMC1	OMIM:620071
HP:0009121	Abnormal axial skeleton morphology	56098	PCDHGC4	OMIM:619880
HP:0009121	Abnormal axial skeleton morphology	10765	KDM5B	OMIM:618109
HP:0009121	Abnormal axial skeleton morphology	7681	MKRN3	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	3653	IPW	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	791114	PWRN1	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	100033413	SNORD116-1	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	8924	HERC2	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	145624	PWAR1	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	23742	NPAP1	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	338433	SNORD115-1	OMIM:176270
HP:0009121	Abnormal axial skeleton morphology	1482	NKX2-5	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	137814	NKX2-6	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	23414	ZFPM2	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	3791	KDR	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	2627	GATA6	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	2657	GDF1	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	140628	GATA5	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	2324	FLT4	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	10370	CITED2	ORPHA:3303
HP:0009121	Abnormal axial skeleton morphology	5631	PRPS1	ORPHA:423479
HP:0009121	Abnormal axial skeleton morphology	9342	SNAP29	ORPHA:66631
HP:0009121	Abnormal axial skeleton morphology	23221	RHOBTB2	OMIM:618004
HP:0009121	Abnormal axial skeleton morphology	51305	KCNK9	ORPHA:166108
HP:0009121	Abnormal axial skeleton morphology	9997	SCO2	OMIM:604377
HP:0009121	Abnormal axial skeleton morphology	2254	FGF9	OMIM:612961
HP:0009121	Abnormal axial skeleton morphology	5297	PI4KA	OMIM:616531
HP:0009121	Abnormal axial skeleton morphology	5297	PI4KA	OMIM:619708
HP:0009121	Abnormal axial skeleton morphology	9320	TRIP12	OMIM:617752
HP:0009121	Abnormal axial skeleton morphology	23019	CNOT1	OMIM:618500
HP:0009121	Abnormal axial skeleton morphology	23019	CNOT1	ORPHA:556955
HP:0009121	Abnormal axial skeleton morphology	10984	KCNQ1OT1	OMIM:130650
HP:0009121	Abnormal axial skeleton morphology	3784	KCNQ1	OMIM:130650
HP:0009121	Abnormal axial skeleton morphology	4613	MYCN	OMIM:164280
HP:0009121	Abnormal axial skeleton morphology	538	ATP7A	ORPHA:198
HP:0009121	Abnormal axial skeleton morphology	405753	DUOXA2	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	6528	SLC5A5	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	7038	TG	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	7173	TPO	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	389434	IYD	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	50506	DUOX2	ORPHA:95716
HP:0009121	Abnormal axial skeleton morphology	7874	USP7	OMIM:616863
HP:0009121	Abnormal axial skeleton morphology	129285	PPP1R21	OMIM:619383
HP:0009121	Abnormal axial skeleton morphology	10128	LRPPRC	OMIM:220111
HP:0009121	Abnormal axial skeleton morphology	6535	SLC6A8	OMIM:300352
HP:0009121	Abnormal axial skeleton morphology	6535	SLC6A8	ORPHA:52503
HP:0009121	Abnormal axial skeleton morphology	54507	ADAMTSL4	ORPHA:1885
HP:0009121	Abnormal axial skeleton morphology	118987	PDZD8	OMIM:620021
HP:0009121	Abnormal axial skeleton morphology	23126	POGZ	ORPHA:468678
HP:0009121	Abnormal axial skeleton morphology	23126	POGZ	OMIM:616364
HP:0009121	Abnormal axial skeleton morphology	1723	DHODH	OMIM:263750
HP:0009121	Abnormal axial skeleton morphology	1723	DHODH	ORPHA:246
HP:0009121	Abnormal axial skeleton morphology	10084	PQBP1	ORPHA:93946
HP:0009121	Abnormal axial skeleton morphology	10084	PQBP1	OMIM:309500
HP:0009121	Abnormal axial skeleton morphology	7021	TFAP2B	ORPHA:46627
HP:0009121	Abnormal axial skeleton morphology	51109	RDH11	OMIM:616108
HP:0009121	Abnormal axial skeleton morphology	51109	RDH11	ORPHA:436245
HP:0009121	Abnormal axial skeleton morphology	55858	TMEM165	OMIM:614727
HP:0009121	Abnormal axial skeleton morphology	79813	EHMT1	OMIM:610253
HP:0009121	Abnormal axial skeleton morphology	55636	CHD7	OMIM:214800
HP:0009121	Abnormal axial skeleton morphology	2296	FOXC1	OMIM:602482
HP:0009121	Abnormal axial skeleton morphology	4803	NGF	ORPHA:64752
HP:0009121	Abnormal axial skeleton morphology	145258	GSC	OMIM:602471
HP:0009121	Abnormal axial skeleton morphology	79718	TBL1XR1	OMIM:602342
HP:0009121	Abnormal axial skeleton morphology	79718	TBL1XR1	ORPHA:487825
HP:0009121	Abnormal axial skeleton morphology	4849	CNOT3	OMIM:618672
HP:0009121	Abnormal axial skeleton morphology	6231	RPS26	OMIM:613309
HP:0009121	Abnormal axial skeleton morphology	23483	TGDS	ORPHA:1388
HP:0009121	Abnormal axial skeleton morphology	51574	LARP7	ORPHA:319671
HP:0009121	Abnormal axial skeleton morphology	51574	LARP7	OMIM:615071
HP:0009121	Abnormal axial skeleton morphology	50945	TBX22	ORPHA:921
HP:0009121	Abnormal axial skeleton morphology	8626	TP63	ORPHA:69085
HP:0009121	Abnormal axial skeleton morphology	8626	TP63	OMIM:604292
HP:0009121	Abnormal axial skeleton morphology	4883	NPR3	OMIM:619543
HP:0009121	Abnormal axial skeleton morphology	55212	BBS7	OMIM:615984
HP:0009121	Abnormal axial skeleton morphology	128869	PIGU	OMIM:618590
HP:0009121	Abnormal axial skeleton morphology	90161	HS6ST2	OMIM:301025
HP:0009121	Abnormal axial skeleton morphology	1741	DLG3	OMIM:300850
HP:0009121	Abnormal axial skeleton morphology	51132	RLIM	OMIM:300978
HP:0009121	Abnormal axial skeleton morphology	6898	TAT	ORPHA:28378
HP:0009121	Abnormal axial skeleton morphology	9343	EFTUD2	OMIM:610536
HP:0009121	Abnormal axial skeleton morphology	9343	EFTUD2	ORPHA:79113
HP:0009121	Abnormal axial skeleton morphology	5702	PSMC3	OMIM:619354
HP:0009121	Abnormal axial skeleton morphology	23630	KCNE5	ORPHA:86818
HP:0009121	Abnormal axial skeleton morphology	2182	ACSL4	ORPHA:86818
HP:0009121	Abnormal axial skeleton morphology	9949	AMMECR1	ORPHA:86818
HP:0009121	Abnormal axial skeleton morphology	4256	MGP	OMIM:245150
HP:0009121	Abnormal axial skeleton morphology	178	AGL	OMIM:232400
HP:0009121	Abnormal axial skeleton morphology	387	RHOA	OMIM:618727
HP:0009121	Abnormal axial skeleton morphology	4693	NDP	ORPHA:649
HP:0009121	Abnormal axial skeleton morphology	9939	RBM8A	OMIM:274000
HP:0009121	Abnormal axial skeleton morphology	9130	FAM50A	OMIM:300261
HP:0009121	Abnormal axial skeleton morphology	871	SERPINH1	OMIM:613848
HP:0009121	Abnormal axial skeleton morphology	121340	SP7	OMIM:613849
HP:0009121	Abnormal axial skeleton morphology	3476	IGBP1	OMIM:300472
HP:0009121	Abnormal axial skeleton morphology	3476	IGBP1	ORPHA:52055
HP:0009121	Abnormal axial skeleton morphology	10046	MAMLD1	ORPHA:456328
HP:0009121	Abnormal axial skeleton morphology	4534	MTM1	ORPHA:456328
HP:0009121	Abnormal axial skeleton morphology	8506	CNTNAP1	OMIM:618186
HP:0009121	Abnormal axial skeleton morphology	8425	LTBP4	OMIM:613177
HP:0009121	Abnormal axial skeleton morphology	10054	UBA2	OMIM:619959
HP:0009121	Abnormal axial skeleton morphology	81857	MED25	OMIM:616449
HP:0009121	Abnormal axial skeleton morphology	81857	MED25	ORPHA:464738
HP:0009121	Abnormal axial skeleton morphology	347734	SLC35B2	OMIM:620269
HP:0009121	Abnormal axial skeleton morphology	2629	GBA1	OMIM:608013
HP:0009121	Abnormal axial skeleton morphology	54968	TMEM70	ORPHA:1194
HP:0009121	Abnormal axial skeleton morphology	80816	ASXL3	OMIM:615485
HP:0009121	Abnormal axial skeleton morphology	6536	SLC6A9	OMIM:617301
HP:0009121	Abnormal axial skeleton morphology	318	NUDT2	OMIM:619844
HP:0009121	Abnormal axial skeleton morphology	129563	DIS3L2	ORPHA:2849
HP:0009121	Abnormal axial skeleton morphology	9915	ARNT2	OMIM:615926
HP:0009121	Abnormal axial skeleton morphology	26153	KIF26A	OMIM:620156
HP:0009121	Abnormal axial skeleton morphology	25885	POLR1A	OMIM:616462
HP:0009121	Abnormal axial skeleton morphology	23184	MESD	OMIM:618644
HP:0009121	Abnormal axial skeleton morphology	51319	RSRC1	OMIM:618402
HP:0009121	Abnormal axial skeleton morphology	79184	BRCC3	ORPHA:280679
HP:0009121	Abnormal axial skeleton morphology	7841	MOGS	OMIM:606056
HP:0009121	Abnormal axial skeleton morphology	7841	MOGS	ORPHA:79330
HP:0009121	Abnormal axial skeleton morphology	171023	ASXL1	ORPHA:97297
HP:0009121	Abnormal axial skeleton morphology	171023	ASXL1	OMIM:605039
HP:0009121	Abnormal axial skeleton morphology	8726	EED	OMIM:617561
HP:0009121	Abnormal axial skeleton morphology	8726	EED	ORPHA:3447
HP:0009121	Abnormal axial skeleton morphology	26053	AUTS2	ORPHA:352490
HP:0009121	Abnormal axial skeleton morphology	84314	TMEM107	OMIM:617563
HP:0009121	Abnormal axial skeleton morphology	56992	KIF15	OMIM:619981
HP:0009121	Abnormal axial skeleton morphology	8550	MAPKAPK5	OMIM:619869
HP:0009121	Abnormal axial skeleton morphology	89910	UBE3B	ORPHA:2707
HP:0009121	Abnormal axial skeleton morphology	1906	EDN1	OMIM:615706
HP:0009121	Abnormal axial skeleton morphology	4247	MGAT2	OMIM:212066
HP:0009121	Abnormal axial skeleton morphology	23265	EXOC7	OMIM:619072
HP:0009121	Abnormal axial skeleton morphology	9653	HS2ST1	OMIM:619194
HP:0009121	Abnormal axial skeleton morphology	51633	OTUD6B	OMIM:617452
HP:0009121	Abnormal axial skeleton morphology	51633	OTUD6B	ORPHA:505237
HP:0009121	Abnormal axial skeleton morphology	6125	RPL5	OMIM:612561
HP:0009121	Abnormal axial skeleton morphology	9508	ADAMTS3	ORPHA:2136
HP:0009121	Abnormal axial skeleton morphology	79633	FAT4	ORPHA:2136
HP:0009121	Abnormal axial skeleton morphology	9841	ZBTB24	OMIM:614069
HP:0009121	Abnormal axial skeleton morphology	79770	TXNDC15	OMIM:619879
HP:0009121	Abnormal axial skeleton morphology	8364	H4C3	OMIM:619758
HP:0009121	Abnormal axial skeleton morphology	147912	SIX5	ORPHA:107
HP:0009121	Abnormal axial skeleton morphology	6495	SIX1	ORPHA:107
HP:0009121	Abnormal axial skeleton morphology	79228	THOC6	ORPHA:363444
HP:0009121	Abnormal axial skeleton morphology	27086	FOXP1	ORPHA:391372
HP:0009121	Abnormal axial skeleton morphology	27086	FOXP1	OMIM:613670
HP:0009121	Abnormal axial skeleton morphology	53335	BCL11A	OMIM:617101
HP:0009121	Abnormal axial skeleton morphology	7025	NR2F1	OMIM:615722
HP:0009121	Abnormal axial skeleton morphology	9993	DGCR2	OMIM:192430
HP:0009121	Abnormal axial skeleton morphology	8220	ESS2	OMIM:192430
HP:0009121	Abnormal axial skeleton morphology	8214	DGCR6	OMIM:192430
HP:0009121	Abnormal axial skeleton morphology	54487	DGCR8	OMIM:192430
HP:0009121	Abnormal axial skeleton morphology	6899	TBX1	OMIM:192430
HP:0009121	Abnormal axial skeleton morphology	91949	COG7	ORPHA:79333
HP:0009121	Abnormal axial skeleton morphology	91949	COG7	OMIM:608779
HP:0009121	Abnormal axial skeleton morphology	10667	FARS2	ORPHA:466722
HP:0009121	Abnormal axial skeleton morphology	23065	EMC1	ORPHA:480898
HP:0009121	Abnormal axial skeleton morphology	23065	EMC1	OMIM:616875
HP:0009121	Abnormal axial skeleton morphology	56975	FAM20C	ORPHA:1832
HP:0009121	Abnormal axial skeleton morphology	2556	GABRA3	OMIM:301091
HP:0009121	Abnormal axial skeleton morphology	3187	HNRNPH1	OMIM:620083
HP:0009121	Abnormal axial skeleton morphology	5373	PMM2	ORPHA:79318
HP:0009121	Abnormal axial skeleton morphology	4677	NARS1	OMIM:619092
HP:0009121	Abnormal axial skeleton morphology	4088	SMAD3	OMIM:613795
HP:0009121	Abnormal axial skeleton morphology	4088	SMAD3	ORPHA:284984
HP:0009121	Abnormal axial skeleton morphology	4088	SMAD3	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	2146	EZH2	OMIM:277590
HP:0009121	Abnormal axial skeleton morphology	2146	EZH2	ORPHA:3447
HP:0009121	Abnormal axial skeleton morphology	55835	CENPJ	OMIM:613676
HP:0009121	Abnormal axial skeleton morphology	7048	TGFBR2	OMIM:610168
HP:0009121	Abnormal axial skeleton morphology	7048	TGFBR2	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	404672	GTF2H5	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	833	CARS1	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	2068	ERCC2	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	2068	ERCC2	OMIM:601675
HP:0009121	Abnormal axial skeleton morphology	7737	RNF113A	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	136647	MPLKIP	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	136647	MPLKIP	OMIM:234050
HP:0009121	Abnormal axial skeleton morphology	6897	TARS1	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	2071	ERCC3	ORPHA:33364
HP:0009121	Abnormal axial skeleton morphology	79791	FBXO31	OMIM:615979
HP:0009121	Abnormal axial skeleton morphology	23512	SUZ12	ORPHA:3447
HP:0009121	Abnormal axial skeleton morphology	641	BLM	ORPHA:125
HP:0009121	Abnormal axial skeleton morphology	10533	ATG7	OMIM:619422
HP:0009121	Abnormal axial skeleton morphology	7046	TGFBR1	OMIM:609192
HP:0009121	Abnormal axial skeleton morphology	7046	TGFBR1	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	51013	EXOSC1	OMIM:619304
HP:0009121	Abnormal axial skeleton morphology	1642	DDB1	OMIM:619426
HP:0009121	Abnormal axial skeleton morphology	8243	SMC1A	OMIM:301044
HP:0009121	Abnormal axial skeleton morphology	1281	COL3A1	OMIM:618343
HP:0009121	Abnormal axial skeleton morphology	10466	COG5	ORPHA:263487
HP:0009121	Abnormal axial skeleton morphology	30000	TNPO2	OMIM:619556
HP:0009121	Abnormal axial skeleton morphology	1859	DYRK1A	ORPHA:268261
HP:0009121	Abnormal axial skeleton morphology	54517	PUS7	OMIM:618342
HP:0009121	Abnormal axial skeleton morphology	55593	OTUD5	OMIM:301056
HP:0009121	Abnormal axial skeleton morphology	55315	SLC29A3	OMIM:602782
HP:0009121	Abnormal axial skeleton morphology	55869	HDAC8	OMIM:300882
HP:0009121	Abnormal axial skeleton morphology	6492	SIM1	ORPHA:171829
HP:0009121	Abnormal axial skeleton morphology	23291	FBXW11	OMIM:618914
HP:0009121	Abnormal axial skeleton morphology	9662	CEP135	OMIM:614673
HP:0009121	Abnormal axial skeleton morphology	4953	ODC1	ORPHA:544488
HP:0009121	Abnormal axial skeleton morphology	5915	RARB	OMIM:615524
HP:0009121	Abnormal axial skeleton morphology	5932	RBBP8	OMIM:251255
HP:0009121	Abnormal axial skeleton morphology	79068	FTO	OMIM:612938
HP:0009121	Abnormal axial skeleton morphology	3417	IDH1	ORPHA:99646
HP:0009121	Abnormal axial skeleton morphology	16	AARS1	OMIM:619691
HP:0009121	Abnormal axial skeleton morphology	56915	EXOSC5	OMIM:619576
HP:0009121	Abnormal axial skeleton morphology	2530	FUT8	OMIM:618005
HP:0009121	Abnormal axial skeleton morphology	23511	NUP188	OMIM:618804
HP:0009121	Abnormal axial skeleton morphology	9719	ADAMTSL2	ORPHA:1901
HP:0009121	Abnormal axial skeleton morphology	9509	ADAMTS2	ORPHA:1901
HP:0009121	Abnormal axial skeleton morphology	81620	CDT1	ORPHA:2554
HP:0009121	Abnormal axial skeleton morphology	5000	ORC4	ORPHA:2554
HP:0009121	Abnormal axial skeleton morphology	990	CDC6	ORPHA:2554
HP:0009121	Abnormal axial skeleton morphology	91647	ATPAF2	OMIM:604273
HP:0009121	Abnormal axial skeleton morphology	54539	NDUFB11	ORPHA:2556
HP:0009121	Abnormal axial skeleton morphology	1349	COX7B	ORPHA:2556
HP:0009121	Abnormal axial skeleton morphology	3052	HCCS	ORPHA:2556
HP:0009121	Abnormal axial skeleton morphology	2304	FOXE1	ORPHA:1226
HP:0009121	Abnormal axial skeleton morphology	444	ASPH	OMIM:601552
HP:0009121	Abnormal axial skeleton morphology	10943	MSL3	OMIM:301032
HP:0009121	Abnormal axial skeleton morphology	372	ARCN1	OMIM:617164
HP:0009121	Abnormal axial skeleton morphology	9758	FRMPD4	OMIM:300983
HP:0009121	Abnormal axial skeleton morphology	57511	COG6	OMIM:614576
HP:0009121	Abnormal axial skeleton morphology	51729	WBP11	OMIM:619227
HP:0009121	Abnormal axial skeleton morphology	5116	PCNT	OMIM:210720
HP:0009121	Abnormal axial skeleton morphology	5116	PCNT	ORPHA:2637
HP:0009121	Abnormal axial skeleton morphology	6638	SNRPN	ORPHA:177907
HP:0009121	Abnormal axial skeleton morphology	9244	CRLF1	OMIM:272430
HP:0009121	Abnormal axial skeleton morphology	60	ACTB	OMIM:243310
HP:0009121	Abnormal axial skeleton morphology	60	ACTB	ORPHA:2995
HP:0009121	Abnormal axial skeleton morphology	8943	AP3D1	OMIM:617050
HP:0009121	Abnormal axial skeleton morphology	71	ACTG1	OMIM:614583
HP:0009121	Abnormal axial skeleton morphology	71	ACTG1	ORPHA:2995
HP:0009121	Abnormal axial skeleton morphology	57061	HYMAI	ORPHA:96191
HP:0009121	Abnormal axial skeleton morphology	5325	PLAGL1	ORPHA:96191
HP:0009121	Abnormal axial skeleton morphology	29895	MYL11	OMIM:619110
HP:0009121	Abnormal axial skeleton morphology	348180	CTU2	OMIM:618142
HP:0009121	Abnormal axial skeleton morphology	10847	SRCAP	OMIM:619595
HP:0009121	Abnormal axial skeleton morphology	340419	RSPO2	OMIM:618022
HP:0009121	Abnormal axial skeleton morphology	5530	PPP3CA	OMIM:618265
HP:0009121	Abnormal axial skeleton morphology	54796	BNC2	ORPHA:93110
HP:0009121	Abnormal axial skeleton morphology	4927	NUP88	OMIM:618393
HP:0009121	Abnormal axial skeleton morphology	2222	FDFT1	OMIM:618156
HP:0009121	Abnormal axial skeleton morphology	374879	ZNF699	OMIM:619488
HP:0009121	Abnormal axial skeleton morphology	440138	ALG11	ORPHA:280071
HP:0009121	Abnormal axial skeleton morphology	1806	DPYD	ORPHA:1675
HP:0009121	Abnormal axial skeleton morphology	55704	CCDC88A	OMIM:617507
HP:0009121	Abnormal axial skeleton morphology	55717	WDR11	OMIM:620237
HP:0009121	Abnormal axial skeleton morphology	118924	FRA10AC1	OMIM:620113
HP:0009121	Abnormal axial skeleton morphology	22995	CEP152	OMIM:613823
HP:0009121	Abnormal axial skeleton morphology	55252	ASXL2	OMIM:617190
HP:0009121	Abnormal axial skeleton morphology	80267	EDEM3	OMIM:619493
HP:0009121	Abnormal axial skeleton morphology	342035	GLDN	OMIM:617194
HP:0009121	Abnormal axial skeleton morphology	200205	IBA57	OMIM:615330
HP:0009121	Abnormal axial skeleton morphology	5718	PSMD12	OMIM:617516
HP:0009121	Abnormal axial skeleton morphology	4683	NBN	ORPHA:647
HP:0009121	Abnormal axial skeleton morphology	23522	KAT6B	ORPHA:3047
HP:0009121	Abnormal axial skeleton morphology	6223	RPS19	OMIM:105650
HP:0009121	Abnormal axial skeleton morphology	84842	HPDL	OMIM:619026
HP:0009121	Abnormal axial skeleton morphology	8516	ITGA8	OMIM:191830
HP:0009121	Abnormal axial skeleton morphology	375056	MIA3	OMIM:619269
HP:0009121	Abnormal axial skeleton morphology	18	ABAT	OMIM:613163
HP:0009121	Abnormal axial skeleton morphology	523	ATP6V1A	OMIM:617403
HP:0009121	Abnormal axial skeleton morphology	7042	TGFB2	OMIM:614816
HP:0009121	Abnormal axial skeleton morphology	7042	TGFB2	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	3480	IGF1R	OMIM:270450
HP:0009121	Abnormal axial skeleton morphology	4629	MYH11	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	4015	LOX	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	4087	SMAD2	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	4089	SMAD4	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	59	ACTA2	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	5592	PRKG1	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	2301	FOXE3	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	4144	MAT2A	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	23493	HEY2	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	8076	MFAP5	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	4638	MYLK	ORPHA:91387
HP:0009121	Abnormal axial skeleton morphology	535	ATP6V0A1	OMIM:619971
HP:0009121	Abnormal axial skeleton morphology	10555	AGPAT2	OMIM:608594
HP:0009121	Abnormal axial skeleton morphology	10555	AGPAT2	ORPHA:528
HP:0009121	Abnormal axial skeleton morphology	3340	NDST1	OMIM:616116
HP:0009121	Abnormal axial skeleton morphology	54345	SOX18	OMIM:137940
HP:0009121	Abnormal axial skeleton morphology	388662	SLC6A17	ORPHA:457212
HP:0009121	Abnormal axial skeleton morphology	388662	SLC6A17	OMIM:616269
HP:0009121	Abnormal axial skeleton morphology	6901	TAFAZZIN	OMIM:302060
HP:0009121	Abnormal axial skeleton morphology	26580	BSCL2	OMIM:269700
HP:0009121	Abnormal axial skeleton morphology	26580	BSCL2	ORPHA:528
HP:0009121	Abnormal axial skeleton morphology	4810	NHS	ORPHA:627
HP:0009121	Abnormal axial skeleton morphology	63932	STEEP1	OMIM:301013
HP:0009121	Abnormal axial skeleton morphology	5468	PPARG	ORPHA:528
HP:0009121	Abnormal axial skeleton morphology	2353	FOS	ORPHA:528
HP:0009121	Abnormal axial skeleton morphology	11141	IL1RAPL1	OMIM:300143
HP:0009121	Abnormal axial skeleton morphology	1460	CSNK2B	OMIM:618732
HP:0009121	Abnormal axial skeleton morphology	5308	PITX2	ORPHA:782
HP:0009121	Abnormal axial skeleton morphology	5308	PITX2	OMIM:180500
HP:0009121	Abnormal axial skeleton morphology	7314	UBB	ORPHA:99772
HP:0009121	Abnormal axial skeleton morphology	57822	GRHL3	ORPHA:99772
HP:0009121	Abnormal axial skeleton morphology	4487	MSX1	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	1739	DLG1	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	999	CDH1	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	5156	PDGFRA	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	9411	ARHGAP29	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	1748	DLX4	ORPHA:199306
HP:0009121	Abnormal axial skeleton morphology	9488	PIGB	OMIM:618580
HP:0009121	Abnormal axial skeleton morphology	5980	REV3L	ORPHA:570
HP:0009121	Abnormal axial skeleton morphology	23129	PLXND1	ORPHA:570
HP:0009121	Abnormal axial skeleton morphology	50801	KCNK4	OMIM:618381
HP:0009121	Abnormal axial skeleton morphology	199221	DZIP1L	ORPHA:731
HP:0009121	Abnormal axial skeleton morphology	5314	PKHD1	ORPHA:731
HP:0009121	Abnormal axial skeleton morphology	3211	HOXB1	OMIM:614744
HP:0009121	Abnormal axial skeleton morphology	10907	TXNL4A	OMIM:608572
HP:0009121	Abnormal axial skeleton morphology	64220	STRA6	OMIM:601186
HP:0009121	Abnormal axial skeleton morphology	22872	SEC31A	OMIM:618651
HP:0009121	Abnormal axial skeleton morphology	4174	MCM5	OMIM:617564
HP:0009121	Abnormal axial skeleton morphology	2248	FGF3	OMIM:610706
HP:0009121	Abnormal axial skeleton morphology	2248	FGF3	ORPHA:90024
HP:0009121	Abnormal axial skeleton morphology	8218	CLTCL1	ORPHA:453510
HP:0009121	Abnormal axial skeleton morphology	1363	CPE	OMIM:619326
HP:0009121	Abnormal axial skeleton morphology	80347	COASY	OMIM:618266
HP:0009121	Abnormal axial skeleton morphology	5236	PGM1	OMIM:614921
HP:0009121	Abnormal axial skeleton morphology	83483	PLVAP	OMIM:618183
HP:0009121	Abnormal axial skeleton morphology	3483	IGFALS	ORPHA:140941
HP:0009121	Abnormal axial skeleton morphology	2615	LRRC32	OMIM:619074
HP:0009121	Abnormal axial skeleton morphology	2065	ERBB3	OMIM:607598
HP:0009121	Abnormal axial skeleton morphology	55023	PHIP	OMIM:617991
HP:0009121	Abnormal axial skeleton morphology	10716	TBR1	ORPHA:1617
HP:0009121	Abnormal axial skeleton morphology	92482	BBIP1	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	11020	IFT27	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	49855	SCAPER	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	51057	WDPCP	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	27241	BBS9	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	84984	CEP19	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	22954	TRIM32	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	79738	BBS10	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	583	BBS2	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	585	BBS4	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	8195	MKKS	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	54585	LZTFL1	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	166379	BBS12	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	10806	SDCCAG8	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	157657	CFAP418	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	129880	BBS5	ORPHA:110
HP:0009121	Abnormal axial skeleton morphology	8675	STX16	ORPHA:94089
HP:0009121	Abnormal axial skeleton morphology	5010	CLDN11	OMIM:619328
HP:0009121	Abnormal axial skeleton morphology	226	ALDOA	OMIM:611881
HP:0009121	Abnormal axial skeleton morphology	55165	CEP55	OMIM:236500
HP:0009121	Abnormal axial skeleton morphology	6182	MRPL12	OMIM:618951
HP:0009121	Abnormal axial skeleton morphology	22861	NLRP1	OMIM:615225
HP:0009121	Abnormal axial skeleton morphology	1589	CYP21A2	OMIM:201910
HP:0009121	Abnormal axial skeleton morphology	6440	SFTPC	ORPHA:70587
HP:0009121	Abnormal axial skeleton morphology	21	ABCA3	ORPHA:70587
HP:0009121	Abnormal axial skeleton morphology	6439	SFTPB	ORPHA:70587
HP:0009121	Abnormal axial skeleton morphology	427	ASAH1	ORPHA:333
HP:0009121	Abnormal axial skeleton morphology	998	CDC42	ORPHA:487796
HP:0009121	Abnormal axial skeleton morphology	998	CDC42	OMIM:616737
HP:0009121	Abnormal axial skeleton morphology	5978	REST	OMIM:617626
HP:0009121	Abnormal axial skeleton morphology	84466	MEGF10	OMIM:614399
HP:0009121	Abnormal axial skeleton morphology	55154	MSTO1	OMIM:617675
HP:0009121	Abnormal axial skeleton morphology	55154	MSTO1	ORPHA:502423
HP:0009121	Abnormal axial skeleton morphology	57178	ZMIZ1	OMIM:618659
HP:0009121	Abnormal axial skeleton morphology	4053	LTBP2	OMIM:251750
HP:0009121	Abnormal axial skeleton morphology	2542	SLC37A4	OMIM:619525
HP:0009121	Abnormal axial skeleton morphology	51434	ANAPC7	OMIM:619699
HP:0009121	Abnormal axial skeleton morphology	203068	TUBB	OMIM:156610
HP:0009121	Abnormal axial skeleton morphology	374354	NHLRC2	OMIM:618278
HP:0009121	Abnormal axial skeleton morphology	10479	SLC9A6	ORPHA:85278
HP:0009121	Abnormal axial skeleton morphology	128674	PROKR2	OMIM:244200
HP:0009121	Abnormal axial skeleton morphology	4233	MET	OMIM:607278
HP:0009121	Abnormal axial skeleton morphology	6663	SOX10	OMIM:611584
HP:0009121	Abnormal axial skeleton morphology	10056	FARSB	OMIM:613658
HP:0009121	Abnormal axial skeleton morphology	9289	ADGRG1	ORPHA:98889
HP:0009121	Abnormal axial skeleton morphology	27286	SRPX2	ORPHA:98889
HP:0009121	Abnormal axial skeleton morphology	8050	PDHX	OMIM:245349
HP:0009121	Abnormal axial skeleton morphology	55690	PACS1	ORPHA:329224
HP:0009121	Abnormal axial skeleton morphology	9894	TELO2	OMIM:616954
HP:0009121	Abnormal axial skeleton morphology	9780	PIEZO1	OMIM:616843
HP:0009121	Abnormal axial skeleton morphology	10982	MAPRE2	OMIM:616734
HP:0009121	Abnormal axial skeleton morphology	63035	BCORL1	OMIM:301029
HP:0009121	Abnormal axial skeleton morphology	79576	NKAP	OMIM:301039
HP:0009121	Abnormal axial skeleton morphology	23476	BRD4	ORPHA:199
HP:0009121	Abnormal axial skeleton morphology	79875	THSD4	OMIM:619825
HP:0009121	Abnormal axial skeleton morphology	6736	SRY	ORPHA:1772
HP:0009121	Abnormal axial skeleton morphology	4654	MYOD1	OMIM:618975
HP:0009121	Abnormal axial skeleton morphology	137492	VPS37A	ORPHA:319199
HP:0009121	Abnormal axial skeleton morphology	137492	VPS37A	OMIM:614898
HP:0009121	Abnormal axial skeleton morphology	7345	UCHL1	OMIM:615491
HP:0009121	Abnormal axial skeleton morphology	92579	G6PC3	OMIM:612541
HP:0009121	Abnormal axial skeleton morphology	114034	TOE1	OMIM:614969
HP:0009121	Abnormal axial skeleton morphology	79759	ZNF668	OMIM:620194
HP:0009121	Abnormal axial skeleton morphology	4311	MME	ORPHA:497764
HP:0009121	Abnormal axial skeleton morphology	4311	MME	OMIM:617018
HP:0009121	Abnormal axial skeleton morphology	256297	PTF1A	OMIM:609069
HP:0009121	Abnormal axial skeleton morphology	10525	HYOU1	OMIM:233600
HP:0009121	Abnormal axial skeleton morphology	64374	SIL1	ORPHA:559
HP:0009121	Abnormal axial skeleton morphology	94005	PIGS	OMIM:618143
HP:0009121	Abnormal axial skeleton morphology	8720	MBTPS1	OMIM:618392
HP:0009121	Abnormal axial skeleton morphology	54676	GTPBP2	OMIM:617988
HP:0009121	Abnormal axial skeleton morphology	203190	LGI3	OMIM:620007
HP:0009121	Abnormal axial skeleton morphology	92935	MARS2	OMIM:616430
HP:0009121	Abnormal axial skeleton morphology	51626	DYNC2LI1	ORPHA:474
HP:0009121	Abnormal axial skeleton morphology	79809	TTC21B	ORPHA:474
HP:0009121	Abnormal axial skeleton morphology	3664	IRF6	ORPHA:1300
HP:0009121	Abnormal axial skeleton morphology	846	CASR	ORPHA:417
HP:0009121	Abnormal axial skeleton morphology	846	CASR	OMIM:239200
HP:0009121	Abnormal axial skeleton morphology	222663	SCUBE3	OMIM:619184
HP:0009121	Abnormal axial skeleton morphology	23114	NFASC	OMIM:618356
HP:0009121	Abnormal axial skeleton morphology	25836	NIPBL	OMIM:122470
HP:0009121	Abnormal axial skeleton morphology	54101	RIPK4	OMIM:263650
HP:0009121	Abnormal axial skeleton morphology	5696	PSMB8	OMIM:256040
HP:0009121	Abnormal axial skeleton morphology	131377	KLHL40	ORPHA:171430
HP:0009121	Abnormal axial skeleton morphology	11274	USP18	OMIM:617397
HP:0009121	Abnormal axial skeleton morphology	7317	UBA1	ORPHA:1145
HP:0009121	Abnormal axial skeleton morphology	2121	EVC	OMIM:225500
HP:0009121	Abnormal axial skeleton morphology	132884	EVC2	OMIM:225500
HP:0009121	Abnormal axial skeleton morphology	255758	DYNLT2B	OMIM:617405
HP:0009121	Abnormal axial skeleton morphology	55081	IFT57	OMIM:617927
HP:0009121	Abnormal axial skeleton morphology	6569	SLC34A1	ORPHA:157215
HP:0009121	Abnormal axial skeleton morphology	3557	IL1RN	OMIM:612852
HP:0009121	Abnormal axial skeleton morphology	79631	EFL1	OMIM:617941
HP:0009121	Abnormal axial skeleton morphology	6909	TBX2	OMIM:618223
HP:0009121	Abnormal axial skeleton morphology	6135	RPL11	OMIM:612562
HP:0009121	Abnormal axial skeleton morphology	6135	RPL11	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6138	RPL15	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6229	RPS24	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6204	RPS10	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6224	RPS20	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6165	RPL35A	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6232	RPS27	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	11224	RPL35	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6160	RPL31	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6218	RPS17	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6201	RPS7	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6155	RPL27	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6154	RPL26	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6210	RPS15A	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	90121	TSR2	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6141	RPL18	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6235	RPS29	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6234	RPS28	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	51816	ADA2	ORPHA:124
HP:0009121	Abnormal axial skeleton morphology	6926	TBX3	ORPHA:3138
HP:0009121	Abnormal axial skeleton morphology	64132	XYLT2	OMIM:605822
HP:0009121	Abnormal axial skeleton morphology	55969	RAB5IF	OMIM:616994
HP:0009121	Abnormal axial skeleton morphology	8216	LZTR1	OMIM:605275
HP:0009121	Abnormal axial skeleton morphology	114803	MYSM1	ORPHA:508542
HP:0009121	Abnormal axial skeleton morphology	2131	EXT1	ORPHA:321
HP:0009121	Abnormal axial skeleton morphology	2131	EXT1	OMIM:133700
HP:0009121	Abnormal axial skeleton morphology	10606	PAICS	OMIM:619859
HP:0009121	Abnormal axial skeleton morphology	7473	WNT3	ORPHA:3301
HP:0009121	Abnormal axial skeleton morphology	2067	ERCC1	OMIM:610758
HP:0009121	Abnormal axial skeleton morphology	54332	GDAP1	ORPHA:101097
HP:0009121	Abnormal axial skeleton morphology	4750	NEK1	OMIM:263520
HP:0009121	Abnormal axial skeleton morphology	5352	PLOD2	OMIM:609220
HP:0009121	Abnormal axial skeleton morphology	5352	PLOD2	ORPHA:2771
HP:0009121	Abnormal axial skeleton morphology	3418	IDH2	ORPHA:296
HP:0009121	Abnormal axial skeleton morphology	90993	CREB3L1	OMIM:616229
HP:0009121	Abnormal axial skeleton morphology	649	BMP1	OMIM:614856
HP:0009121	Abnormal axial skeleton morphology	387733	IFITM5	OMIM:610967
HP:0009121	Abnormal axial skeleton morphology	6678	SPARC	OMIM:616507
HP:0009121	Abnormal axial skeleton morphology	55325	UFSP2	OMIM:617974
HP:0009121	Abnormal axial skeleton morphology	28957	MRPS28	OMIM:618958
HP:0009121	Abnormal axial skeleton morphology	100	ADA	OMIM:102700
HP:0009121	Abnormal axial skeleton morphology	6137	RPL13	OMIM:618728
HP:0009121	Abnormal axial skeleton morphology	5479	PPIB	OMIM:259440
HP:0009121	Abnormal axial skeleton morphology	7471	WNT1	OMIM:615220
HP:0009121	Abnormal axial skeleton morphology	2690	GHR	ORPHA:633
HP:0009121	Abnormal axial skeleton morphology	91869	RFT1	ORPHA:244310
HP:0009121	Abnormal axial skeleton morphology	79783	SUGCT	ORPHA:35706
HP:0009121	Abnormal axial skeleton morphology	1725	DHPS	OMIM:618480
HP:0009121	Abnormal axial skeleton morphology	3209	HOXA13	ORPHA:2438
HP:0009121	Abnormal axial skeleton morphology	286	ANK1	ORPHA:251066
HP:0009121	Abnormal axial skeleton morphology	79971	WLS	OMIM:619648
HP:0009121	Abnormal axial skeleton morphology	3090	HIC1	ORPHA:531
HP:0009121	Abnormal axial skeleton morphology	10804	GJB6	ORPHA:477
HP:0009121	Abnormal axial skeleton morphology	2706	GJB2	ORPHA:477
HP:0009121	Abnormal axial skeleton morphology	26235	FBXL4	OMIM:615471
HP:0009121	Abnormal axial skeleton morphology	104	ADARB1	OMIM:618862
HP:0009121	Abnormal axial skeleton morphology	56896	DPYSL5	OMIM:619435
HP:0009121	Abnormal axial skeleton morphology	8573	CASK	OMIM:300749
HP:0009121	Abnormal axial skeleton morphology	6418	SET	OMIM:618106
HP:0009121	Abnormal axial skeleton morphology	4897	NRCAM	OMIM:619833
HP:0009121	Abnormal axial skeleton morphology	5575	PRKAR1B	OMIM:619680
HP:0009121	Abnormal axial skeleton morphology	113179	ADAT3	ORPHA:363528
HP:0009121	Abnormal axial skeleton morphology	283489	CHAMP1	OMIM:616579
HP:0009121	Abnormal axial skeleton morphology	6812	STXBP1	ORPHA:495818
HP:0009121	Abnormal axial skeleton morphology	1778	DYNC1H1	OMIM:614563
HP:0009121	Abnormal axial skeleton morphology	26999	CYFIP2	OMIM:618008
HP:0009121	Abnormal axial skeleton morphology	23036	ZNF292	OMIM:619188
HP:0009121	Abnormal axial skeleton morphology	5518	PPP2R1A	OMIM:616362
HP:0009121	Abnormal axial skeleton morphology	5518	PPP2R1A	ORPHA:457284
HP:0009121	Abnormal axial skeleton morphology	57003	CCDC47	OMIM:618268
HP:0009121	Abnormal axial skeleton morphology	112858	TP53RK	OMIM:617730
HP:0009121	Abnormal axial skeleton morphology	54914	FOCAD	OMIM:619991
HP:0009121	Abnormal axial skeleton morphology	490	ATP2B1	OMIM:619910
HP:0009121	Abnormal axial skeleton morphology	58508	KMT2C	ORPHA:261652
HP:0009121	Abnormal axial skeleton morphology	58508	KMT2C	OMIM:617768
HP:0009121	Abnormal axial skeleton morphology	7358	UGDH	OMIM:618792
HP:0009121	Abnormal axial skeleton morphology	57502	NLGN4X	OMIM:300495
HP:0009121	Abnormal axial skeleton morphology	5430	POLR2A	OMIM:618603
HP:0009121	Abnormal axial skeleton morphology	22856	CHSY1	OMIM:605282
HP:0009121	Abnormal axial skeleton morphology	1807	DPYS	OMIM:222748
HP:0009121	Abnormal axial skeleton morphology	58497	PRUNE1	OMIM:617481
HP:0009121	Abnormal axial skeleton morphology	58497	PRUNE1	ORPHA:544469
HP:0009121	Abnormal axial skeleton morphology	8621	CDK13	OMIM:617360
HP:0009121	Abnormal axial skeleton morphology	5881	RAC3	OMIM:618577
HP:0009121	Abnormal axial skeleton morphology	341208	HEPHL1	OMIM:261990
HP:0009121	Abnormal axial skeleton morphology	10535	RNASEH2A	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	84153	RNASEH2C	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	25939	SAMHD1	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	79621	RNASEH2B	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	103	ADAR	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	11277	TREX1	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	100147744	RNU7-1	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	134353	LSM11	ORPHA:51
HP:0009121	Abnormal axial skeleton morphology	54567	DLL4	OMIM:616589
HP:0009121	Abnormal axial skeleton morphology	54567	DLL4	ORPHA:1114
HP:0009121	Abnormal axial skeleton morphology	54567	DLL4	ORPHA:974
HP:0009121	Abnormal axial skeleton morphology	7476	WNT7A	ORPHA:2879
HP:0009121	Abnormal axial skeleton morphology	57514	ARHGAP31	OMIM:100300
HP:0009121	Abnormal axial skeleton morphology	57514	ARHGAP31	ORPHA:974
HP:0009121	Abnormal axial skeleton morphology	197131	UBR1	OMIM:243800
HP:0009121	Abnormal axial skeleton morphology	9790	BMS1	ORPHA:1114
HP:0009121	Abnormal axial skeleton morphology	3691	ITGB4	ORPHA:1114
HP:0009121	Abnormal axial skeleton morphology	80781	COL18A1	ORPHA:1571
HP:0009121	Abnormal axial skeleton morphology	5062	PAK2	ORPHA:1571
HP:0009121	Abnormal axial skeleton morphology	3516	RBPJ	ORPHA:974
HP:0009121	Abnormal axial skeleton morphology	4851	NOTCH1	ORPHA:974
HP:0009121	Abnormal axial skeleton morphology	285203	EOGT	ORPHA:974
HP:0009121	Abnormal axial skeleton morphology	7528	YY1	ORPHA:506358
HP:0009121	Abnormal axial skeleton morphology	64116	SLC39A8	OMIM:616721
HP:0009121	Abnormal axial skeleton morphology	64116	SLC39A8	ORPHA:468699
HP:0009121	Abnormal axial skeleton morphology	7355	SLC35A2	ORPHA:356961
HP:0009121	Abnormal axial skeleton morphology	26115	TANC2	OMIM:618906
HP:0009121	Abnormal axial skeleton morphology	27245	AHDC1	ORPHA:412069
HP:0009121	Abnormal axial skeleton morphology	10157	AASS	ORPHA:2203
HP:0009121	Abnormal axial skeleton morphology	10265	IRX5	OMIM:611174
HP:0009121	Abnormal axial skeleton morphology	4091	SMAD6	OMIM:617439
HP:0009121	Abnormal axial skeleton morphology	29968	PSAT1	ORPHA:284417
HP:0009121	Abnormal axial skeleton morphology	29980	DONSON	OMIM:251230
HP:0009121	Abnormal axial skeleton morphology	10664	CTCF	ORPHA:363611
HP:0009121	Abnormal axial skeleton morphology	149371	EXOC8	OMIM:619076
HP:0009121	Abnormal axial skeleton morphology	92002	CCNQ	OMIM:300707
HP:0009121	Abnormal axial skeleton morphology	545	ATR	ORPHA:808
HP:0009121	Abnormal axial skeleton morphology	1062	CENPE	ORPHA:808
HP:0009121	Abnormal axial skeleton morphology	79902	NUP85	ORPHA:808
HP:0009121	Abnormal axial skeleton morphology	84126	ATRIP	ORPHA:808
HP:0009121	Abnormal axial skeleton morphology	11011	TLK2	OMIM:618050
HP:0009121	Abnormal axial skeleton morphology	56603	CYP26B1	OMIM:614416
HP:0009121	Abnormal axial skeleton morphology	3852	KRT5	ORPHA:79396
HP:0009121	Abnormal axial skeleton morphology	3861	KRT14	ORPHA:79396
HP:0009121	Abnormal axial skeleton morphology	443	ASPA	OMIM:271900
HP:0009121	Abnormal axial skeleton morphology	529	ATP6V1E1	ORPHA:357074
HP:0009121	Abnormal axial skeleton morphology	8815	BANF1	OMIM:614008
HP:0009121	Abnormal axial skeleton morphology	5195	PEX14	OMIM:614887
HP:0009121	Abnormal axial skeleton morphology	283120	H19	ORPHA:231140
HP:0009121	Abnormal axial skeleton morphology	367	AR	OMIM:312300
HP:0009121	Abnormal axial skeleton morphology	11014	KDELR2	OMIM:619131
HP:0009121	Abnormal axial skeleton morphology	26160	IFT172	OMIM:615630
HP:0009121	Abnormal axial skeleton morphology	64131	XYLT1	ORPHA:1425
HP:0009121	Abnormal axial skeleton morphology	5081	PAX7	OMIM:618578
HP:0009121	Abnormal axial skeleton morphology	5826	ABCD4	OMIM:614857
HP:0009121	Abnormal axial skeleton morphology	5189	PEX1	OMIM:214100
HP:0009121	Abnormal axial skeleton morphology	1718	DHCR24	OMIM:602398
HP:0009121	Abnormal axial skeleton morphology	1718	DHCR24	ORPHA:35107
HP:0009121	Abnormal axial skeleton morphology	1497	CTNS	OMIM:219800
HP:0009121	Abnormal axial skeleton morphology	11253	MAN1B1	ORPHA:397941
HP:0009121	Abnormal axial skeleton morphology	1139	CHRNA7	ORPHA:199318
HP:0009121	Abnormal axial skeleton morphology	7360	UGP2	OMIM:618744
HP:0009121	Abnormal axial skeleton morphology	9578	CDC42BPB	OMIM:619841
HP:0009121	Abnormal axial skeleton morphology	3020	H3-3A	OMIM:619720
HP:0009121	Abnormal axial skeleton morphology	2737	GLI3	ORPHA:380
HP:0009121	Abnormal axial skeleton morphology	2737	GLI3	OMIM:175700
HP:0009121	Abnormal axial skeleton morphology	3021	H3-3B	OMIM:619721
HP:0009121	Abnormal axial skeleton morphology	1855	DVL1	OMIM:616331
HP:0009121	Abnormal axial skeleton morphology	1855	DVL1	OMIM:180700
HP:0009121	Abnormal axial skeleton morphology	1855	DVL1	ORPHA:3107
HP:0009121	Abnormal axial skeleton morphology	8942	KYNU	OMIM:617661
HP:0009121	Abnormal axial skeleton morphology	5830	PEX5	OMIM:202370
HP:0009121	Abnormal axial skeleton morphology	2201	FBN2	OMIM:121050
HP:0009121	Abnormal axial skeleton morphology	4286	MITF	OMIM:617306
HP:0009121	Abnormal axial skeleton morphology	120227	CYP2R1	OMIM:600081
HP:0009121	Abnormal axial skeleton morphology	120227	CYP2R1	ORPHA:289157
HP:0009121	Abnormal axial skeleton morphology	57539	WDR35	ORPHA:1515
HP:0009121	Abnormal axial skeleton morphology	57539	WDR35	OMIM:613610
HP:0009121	Abnormal axial skeleton morphology	57539	WDR35	ORPHA:93271
HP:0009121	Abnormal axial skeleton morphology	51098	IFT52	ORPHA:1515
HP:0009121	Abnormal axial skeleton morphology	57231	SNX14	ORPHA:397709
HP:0009121	Abnormal axial skeleton morphology	1896	EDA	OMIM:305100
HP:0009121	Abnormal axial skeleton morphology	1896	EDA	ORPHA:181
HP:0009121	Abnormal axial skeleton morphology	54	ACP5	OMIM:607944
HP:0009121	Abnormal axial skeleton morphology	64359	NXN	OMIM:618529
HP:0009121	Abnormal axial skeleton morphology	64359	NXN	ORPHA:1507
HP:0009121	Abnormal axial skeleton morphology	4920	ROR2	ORPHA:1507
HP:0009121	Abnormal axial skeleton morphology	4920	ROR2	OMIM:268310
HP:0009121	Abnormal axial skeleton morphology	5191	PEX7	OMIM:215100
HP:0009121	Abnormal axial skeleton morphology	2035	EPB41	ORPHA:288
HP:0009121	Abnormal axial skeleton morphology	2995	GYPC	ORPHA:288
HP:0009121	Abnormal axial skeleton morphology	6710	SPTB	ORPHA:288
HP:0009121	Abnormal axial skeleton morphology	6708	SPTA1	ORPHA:288
HP:0009121	Abnormal axial skeleton morphology	1105	CHD1	OMIM:617682
HP:0009121	Abnormal axial skeleton morphology	1105	CHD1	ORPHA:529965
HP:0009121	Abnormal axial skeleton morphology	1656	DDX6	OMIM:618653
HP:0009121	Abnormal axial skeleton morphology	1594	CYP27B1	OMIM:264700
HP:0009121	Abnormal axial skeleton morphology	1594	CYP27B1	ORPHA:289157
HP:0009121	Abnormal axial skeleton morphology	1301	COL11A1	OMIM:228520
HP:0009121	Abnormal axial skeleton morphology	1301	COL11A1	ORPHA:440354
HP:0009121	Abnormal axial skeleton morphology	1301	COL11A1	ORPHA:560
HP:0009121	Abnormal axial skeleton morphology	5813	PURA	ORPHA:438216
HP:0009121	Abnormal axial skeleton morphology	2783	GNB2	OMIM:619503
HP:0009121	Abnormal axial skeleton morphology	6602	SMARCD1	OMIM:618779
HP:0009121	Abnormal axial skeleton morphology	55623	THUMPD1	OMIM:619989
HP:0009121	Abnormal axial skeleton morphology	26038	CHD5	OMIM:619873
HP:0009121	Abnormal axial skeleton morphology	1182	CLCN3	OMIM:619512
HP:0009121	Abnormal axial skeleton morphology	3043	HBB	ORPHA:231214
HP:0009121	Abnormal axial skeleton morphology	3043	HBB	ORPHA:231226
HP:0009121	Abnormal axial skeleton morphology	142680	SLC34A3	OMIM:241530
HP:0009121	Abnormal axial skeleton morphology	5048	PAFAH1B1	ORPHA:217385
HP:0009121	Abnormal axial skeleton morphology	7531	YWHAE	ORPHA:217385
HP:0009121	Abnormal axial skeleton morphology	3481	IGF2	OMIM:616489
HP:0009121	Abnormal axial skeleton morphology	3481	IGF2	OMIM:180860
HP:0009121	Abnormal axial skeleton morphology	3481	IGF2	ORPHA:397590
HP:0009121	Abnormal axial skeleton morphology	92609	TIMM50	OMIM:617698
HP:0009121	Abnormal axial skeleton morphology	3098	HK1	OMIM:618547
HP:0009121	Abnormal axial skeleton morphology	5590	PRKCZ	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	2563	GABRD	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	23013	SPEN	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	23013	SPEN	OMIM:619312
HP:0009121	Abnormal axial skeleton morphology	8510	MMP23B	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	7798	LUZP1	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	6497	SKI	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	6497	SKI	ORPHA:2462
HP:0009121	Abnormal axial skeleton morphology	6497	SKI	OMIM:182212
HP:0009121	Abnormal axial skeleton morphology	10630	PDPN	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	3339	HSPG2	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	10277	UBE4B	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	8514	KCNAB2	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	473	RERE	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	473	RERE	ORPHA:494344
HP:0009121	Abnormal axial skeleton morphology	473	RERE	OMIM:616975
HP:0009121	Abnormal axial skeleton morphology	63976	PRDM16	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	54897	CASZ1	ORPHA:1606
HP:0009121	Abnormal axial skeleton morphology	8314	BAP1	OMIM:619762
HP:0009121	Abnormal axial skeleton morphology	83479	DDX59	ORPHA:2919
HP:0009121	Abnormal axial skeleton morphology	83479	DDX59	OMIM:174300
HP:0009121	Abnormal axial skeleton morphology	6942	TCF20	OMIM:618430
HP:0009121	Abnormal axial skeleton morphology	9968	MED12	OMIM:305450
HP:0009121	Abnormal axial skeleton morphology	9968	MED12	OMIM:309520
HP:0009121	Abnormal axial skeleton morphology	2271	FH	OMIM:606812
HP:0009121	Abnormal axial skeleton morphology	4488	MSX2	OMIM:604757
HP:0009121	Abnormal axial skeleton morphology	8643	PTCH2	ORPHA:377
HP:0009121	Abnormal axial skeleton morphology	23556	PIGN	OMIM:614080
HP:0009121	Abnormal axial skeleton morphology	23007	PLCH1	OMIM:619895
HP:0009121	Abnormal axial skeleton morphology	249	ALPL	OMIM:241510
HP:0009121	Abnormal axial skeleton morphology	79989	IFT56	OMIM:619534
HP:0009121	Abnormal axial skeleton morphology	1107	CHD3	OMIM:618205
HP:0009121	Abnormal axial skeleton morphology	1749	DLX5	OMIM:220600
HP:0009121	Abnormal axial skeleton morphology	9742	IFT140	OMIM:266920
HP:0009121	Abnormal axial skeleton morphology	26173	INTS1	OMIM:618571
HP:0009121	Abnormal axial skeleton morphology	1523	CUX1	OMIM:618330
HP:0009121	Abnormal axial skeleton morphology	5587	PRKD1	OMIM:617364
HP:0009121	Abnormal axial skeleton morphology	5426	POLE	OMIM:618336
HP:0009121	Abnormal axial skeleton morphology	5426	POLE	ORPHA:85173
HP:0009121	Abnormal axial skeleton morphology	8925	HERC1	OMIM:617011
HP:0009121	Abnormal axial skeleton morphology	54892	NCAPG2	OMIM:618460
HP:0009121	Abnormal axial skeleton morphology	23314	SATB2	ORPHA:251028
HP:0009121	Abnormal axial skeleton morphology	23314	SATB2	OMIM:612313
HP:0009121	Abnormal axial skeleton morphology	1277	COL1A1	OMIM:259420
HP:0009121	Abnormal axial skeleton morphology	7707	ZNF148	OMIM:617260
HP:0009121	Abnormal axial skeleton morphology	29887	SNX10	OMIM:615085
HP:0009121	Abnormal axial skeleton morphology	5515	PPP2CA	OMIM:618354
HP:0009121	Abnormal axial skeleton morphology	1747	DLX3	OMIM:190320
HP:0009121	Abnormal axial skeleton morphology	1747	DLX3	ORPHA:3352
HP:0009121	Abnormal axial skeleton morphology	29998	BICRA	OMIM:619325
HP:0009121	Abnormal axial skeleton morphology	4952	OCRL	ORPHA:534
HP:0009121	Abnormal axial skeleton morphology	2710	GK	OMIM:307030
HP:0009121	Abnormal axial skeleton morphology	9126	SMC3	OMIM:610759
HP:0009121	Abnormal axial skeleton morphology	55777	MBD5	OMIM:156200
HP:0009121	Abnormal axial skeleton morphology	4784	NFIX	OMIM:602535
HP:0009121	Abnormal axial skeleton morphology	4784	NFIX	ORPHA:420179
HP:0009121	Abnormal axial skeleton morphology	3039	HBA1	ORPHA:98791
HP:0009121	Abnormal axial skeleton morphology	3040	HBA2	ORPHA:98791
HP:0009121	Abnormal axial skeleton morphology	54496	PRMT7	OMIM:617157
HP:0009121	Abnormal axial skeleton morphology	10082	GPC6	OMIM:258315
HP:0009121	Abnormal axial skeleton morphology	10082	GPC6	ORPHA:93329
HP:0009121	Abnormal axial skeleton morphology	116442	RAB39B	OMIM:311510
HP:0009121	Abnormal axial skeleton morphology	116442	RAB39B	ORPHA:2379
HP:0009121	Abnormal axial skeleton morphology	23258	DENND5A	OMIM:617281
HP:0009121	Abnormal axial skeleton morphology	9496	TBX4	ORPHA:261279
HP:0009121	Abnormal axial skeleton morphology	8091	HMGA2	ORPHA:94063
HP:0009121	Abnormal axial skeleton morphology	8091	HMGA2	ORPHA:397590
HP:0009121	Abnormal axial skeleton morphology	23592	LEMD3	ORPHA:94063
HP:0009121	Abnormal axial skeleton morphology	164	AP1G1	OMIM:619467
HP:0009121	Abnormal axial skeleton morphology	3977	LIFR	OMIM:601559
HP:0009121	Abnormal axial skeleton morphology	5144	PDE4D	ORPHA:439822
HP:0009121	Abnormal axial skeleton morphology	2475	MTOR	ORPHA:457485
HP:0009121	Abnormal axial skeleton morphology	2475	MTOR	OMIM:616638
HP:0009121	Abnormal axial skeleton morphology	4990	SIX6	OMIM:206900
HP:0009121	Abnormal axial skeleton morphology	57498	KIDINS220	OMIM:617296
HP:0009121	Abnormal axial skeleton morphology	10526	IPO8	OMIM:619472
HP:0009121	Abnormal axial skeleton morphology	145173	B3GLCT	OMIM:261540
HP:0009121	Abnormal axial skeleton morphology	145173	B3GLCT	ORPHA:709
HP:0009121	Abnormal axial skeleton morphology	1387	CREBBP	OMIM:180849
HP:0009121	Abnormal axial skeleton morphology	2033	EP300	OMIM:180849
HP:0009121	Abnormal axial skeleton morphology	79005	SCNM1	OMIM:620107
HP:0009121	Abnormal axial skeleton morphology	10283	CWC27	OMIM:250410
HP:0009121	Abnormal axial skeleton morphology	10283	CWC27	ORPHA:166035
HP:0009121	Abnormal axial skeleton morphology	4796	TONSL	OMIM:271510
HP:0009121	Abnormal axial skeleton morphology	4796	TONSL	ORPHA:93357
HP:0009121	Abnormal axial skeleton morphology	11198	SUPT16H	OMIM:619480
HP:0009121	Abnormal axial skeleton morphology	2887	GRB10	ORPHA:96182
HP:0009121	Abnormal axial skeleton morphology	84172	POLR1B	ORPHA:861
HP:0009121	Abnormal axial skeleton morphology	9533	POLR1C	ORPHA:861
HP:0009121	Abnormal axial skeleton morphology	51082	POLR1D	ORPHA:861
HP:0009121	Abnormal axial skeleton morphology	6949	TCOF1	ORPHA:861
HP:0009121	Abnormal axial skeleton morphology	23405	DICER1	OMIM:618272
HP:0009121	Abnormal axial skeleton morphology	55210	ATAD3A	OMIM:617183
HP:0009121	Abnormal axial skeleton morphology	1298	COL9A2	OMIM:600204
HP:0009121	Abnormal axial skeleton morphology	4841	NONO	OMIM:300967
HP:0009121	Abnormal axial skeleton morphology	4841	NONO	ORPHA:466791
HP:0009121	Abnormal axial skeleton morphology	5058	PAK1	OMIM:618158
HP:0009121	Abnormal axial skeleton morphology	10651	MTX2	OMIM:619127
HP:0009121	Abnormal axial skeleton morphology	25839	COG4	ORPHA:85172
HP:0009121	Abnormal axial skeleton morphology	64093	SMOC1	OMIM:206920
HP:0009121	Abnormal axial skeleton morphology	64093	SMOC1	ORPHA:1106
HP:0009121	Abnormal axial skeleton morphology	1028	CDKN1C	ORPHA:85173
HP:0009121	Abnormal axial skeleton morphology	1028	CDKN1C	ORPHA:397590
HP:0009121	Abnormal axial skeleton morphology	2799	GNS	OMIM:252940
HP:0009121	Abnormal axial skeleton morphology	55599	RNPC3	OMIM:618160
HP:0009121	Abnormal axial skeleton morphology	23387	SIK3	OMIM:618162
HP:0009121	Abnormal axial skeleton morphology	6904	TBCD	OMIM:617193
HP:0009121	Abnormal axial skeleton morphology	5528	PPP2R5D	ORPHA:457279
HP:0009121	Abnormal axial skeleton morphology	1984	EIF5A	OMIM:619376
HP:0009121	Abnormal axial skeleton morphology	9487	PIGL	OMIM:280000
HP:0009121	Abnormal axial skeleton morphology	5557	PRIM1	OMIM:620005
HP:0009121	Abnormal axial skeleton morphology	3295	HSD17B4	OMIM:261515
HP:0009121	Abnormal axial skeleton morphology	7474	WNT5A	OMIM:180700
HP:0009121	Abnormal axial skeleton morphology	7474	WNT5A	ORPHA:3107
HP:0009121	Abnormal axial skeleton morphology	9897	WASHC5	ORPHA:7
HP:0009121	Abnormal axial skeleton morphology	28952	CCDC22	ORPHA:7
HP:0009121	Abnormal axial skeleton morphology	6913	TBX15	OMIM:260660
HP:0009121	Abnormal axial skeleton morphology	6913	TBX15	ORPHA:93333
HP:0009121	Abnormal axial skeleton morphology	55181	SMG8	OMIM:619268
HP:0009121	Abnormal axial skeleton morphology	27161	AGO2	OMIM:619149
HP:0009121	Abnormal axial skeleton morphology	284361	EMC10	OMIM:619264
HP:0009121	Abnormal axial skeleton morphology	7421	VDR	ORPHA:93160
HP:0009121	Abnormal axial skeleton morphology	7421	VDR	OMIM:277440
HP:0009121	Abnormal axial skeleton morphology	55503	TRPV6	OMIM:618188
HP:0009121	Abnormal axial skeleton morphology	775	CACNA1C	OMIM:620029
HP:0009121	Abnormal axial skeleton morphology	4983	OPHN1	OMIM:300486
HP:0009121	Abnormal axial skeleton morphology	4774	NFIA	ORPHA:401986
HP:0009121	Abnormal axial skeleton morphology	55112	DYNC2I1	ORPHA:93271
HP:0009121	Abnormal axial skeleton morphology	57560	IFT80	ORPHA:93271
HP:0009121	Abnormal axial skeleton morphology	79659	DYNC2H1	ORPHA:93271
HP:0009121	Abnormal axial skeleton morphology	89891	DYNC2I2	ORPHA:93271
HP:0009121	Abnormal axial skeleton morphology	4281	MID1	OMIM:300000
HP:0009121	Abnormal axial skeleton morphology	9442	MED27	OMIM:619286
HP:0009121	Abnormal axial skeleton morphology	2314	FLII	ORPHA:819
HP:0009121	Abnormal axial skeleton morphology	23096	IQSEC2	ORPHA:819
HP:0009121	Abnormal axial skeleton morphology	10743	RAI1	ORPHA:819
HP:0009121	Abnormal axial skeleton morphology	10522	DEAF1	ORPHA:819
HP:0009121	Abnormal axial skeleton morphology	10522	DEAF1	OMIM:615828
HP:0009121	Abnormal axial skeleton morphology	5744	PTHLH	ORPHA:93387
HP:0009121	Abnormal axial skeleton morphology	3239	HOXD13	ORPHA:93387
HP:0009121	Abnormal axial skeleton morphology	4758	NEU1	ORPHA:812
HP:0009121	Abnormal axial skeleton morphology	150468	CKAP2L	ORPHA:3255
HP:0009121	Abnormal axial skeleton morphology	324	APC	ORPHA:3258
HP:0009121	Abnormal axial skeleton morphology	6595	SMARCA2	OMIM:619293
HP:0009121	Abnormal axial skeleton morphology	57492	ARID1B	OMIM:135900
HP:0009121	Abnormal axial skeleton morphology	672	BRCA1	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	10459	MAD2L2	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	7516	XRCC2	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	29089	UBE2T	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	675	BRCA2	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	55120	FANCL	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2177	FANCD2	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2175	FANCA	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2176	FANCC	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2178	FANCE	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2188	FANCF	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2189	FANCG	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	5888	RAD51	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	5889	RAD51C	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	55159	RFWD3	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	83990	BRIP1	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	57697	FANCM	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	79728	PALB2	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	84464	SLX4	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	2072	ERCC4	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	55215	FANCI	ORPHA:84
HP:0009121	Abnormal axial skeleton morphology	83550	GPR101	ORPHA:963
HP:0009121	Abnormal axial skeleton morphology	9049	AIP	ORPHA:963
HP:0009121	Abnormal axial skeleton morphology	9049	AIP	ORPHA:99725
HP:0009121	Abnormal axial skeleton morphology	9377	COX5A	OMIM:619064
HP:0009121	Abnormal axial skeleton morphology	9839	ZEB2	ORPHA:261552
HP:0009121	Abnormal axial skeleton morphology	1327	COX4I1	OMIM:619060
HP:0009121	Abnormal axial skeleton morphology	9184	BUB3	ORPHA:1052
HP:0009121	Abnormal axial skeleton morphology	699	BUB1	ORPHA:1052
HP:0009121	Abnormal axial skeleton morphology	9702	CEP57	ORPHA:1052
HP:0009121	Abnormal axial skeleton morphology	9702	CEP57	OMIM:614114
HP:0009121	Abnormal axial skeleton morphology	9319	TRIP13	ORPHA:1052
HP:0009121	Abnormal axial skeleton morphology	701	BUB1B	ORPHA:1052
HP:0009121	Abnormal axial skeleton morphology	4591	TRIM37	OMIM:253250
HP:0009121	Abnormal axial skeleton morphology	1954	MEGF8	OMIM:614976
HP:0009121	Abnormal axial skeleton morphology	4338	MOCS2	OMIM:252160
HP:0009121	Abnormal axial skeleton morphology	25942	SIN3A	OMIM:613406
HP:0009121	Abnormal axial skeleton morphology	6197	RPS6KA3	ORPHA:276630
HP:0009121	Abnormal axial skeleton morphology	6197	RPS6KA3	ORPHA:192
HP:0009121	Abnormal axial skeleton morphology	5251	PHEX	ORPHA:89936
HP:0009121	Abnormal axial skeleton morphology	5251	PHEX	OMIM:307800
HP:0009121	Abnormal axial skeleton morphology	1857	DVL3	ORPHA:3107
HP:0009121	Abnormal axial skeleton morphology	1857	DVL3	OMIM:616894
HP:0009121	Abnormal axial skeleton morphology	2332	FMR1	ORPHA:908
HP:0009121	Abnormal axial skeleton morphology	285175	UNC80	OMIM:616801
HP:0009121	Abnormal axial skeleton morphology	285175	UNC80	ORPHA:371364
HP:0009121	Abnormal axial skeleton morphology	11128	POLR3A	OMIM:264090
HP:0009121	Abnormal axial skeleton morphology	11128	POLR3A	ORPHA:3455
HP:0009121	Abnormal axial skeleton morphology	23137	SMC5	OMIM:620185
HP:0009121	Abnormal axial skeleton morphology	57459	GATAD2B	ORPHA:363686
HP:0009121	Abnormal axial skeleton morphology	728294	D2HGDH	OMIM:600721
HP:0009121	Abnormal axial skeleton morphology	6774	STAT3	OMIM:147060
HP:0009121	Abnormal axial skeleton morphology	5159	PDGFRB	OMIM:601812
HP:0009121	Abnormal axial skeleton morphology	5324	PLAG1	ORPHA:397590
HP:0009121	Abnormal axial skeleton morphology	182	JAG1	OMIM:118450
HP:0009121	Abnormal axial skeleton morphology	4221	MEN1	ORPHA:99725
HP:0009121	Abnormal axial skeleton morphology	471	ATIC	OMIM:608688
HP:0009121	Abnormal axial skeleton morphology	388015	RTL1	ORPHA:96334
HP:0009121	Abnormal axial skeleton morphology	8788	DLK1	ORPHA:96334
HP:0009121	Abnormal axial skeleton morphology	55384	MEG3	ORPHA:96334
HP:0009121	Abnormal axial skeleton morphology	114548	NLRP3	OMIM:607115
HP:0009121	Abnormal axial skeleton morphology	114548	NLRP3	ORPHA:1451
HP:0009121	Abnormal axial skeleton morphology	5295	PIK3R1	OMIM:269880
HP:0009121	Abnormal axial skeleton morphology	254065	BRWD3	OMIM:300659
HP:0009121	Abnormal axial skeleton morphology	9652	SKIC3	OMIM:222470
HP:0009121	Abnormal axial skeleton morphology	10661	KLF1	OMIM:613673
HP:0009121	Abnormal axial skeleton morphology	1836	SLC26A2	ORPHA:93298
HP:0009121	Abnormal axial skeleton morphology	4313	MMP2	OMIM:259600
HP:0009121	Abnormal axial skeleton morphology	91252	SLC39A13	OMIM:612350
HP:0009121	Abnormal axial skeleton morphology	2702	GJA5	OMIM:612474
HP:0009121	Abnormal axial skeleton morphology	2703	GJA8	OMIM:612474
HP:0009121	Abnormal axial skeleton morphology	867	CBL	OMIM:613563
HP:0009121	Abnormal axial skeleton morphology	51053	GMNN	OMIM:616835
HP:0009121	Abnormal axial skeleton morphology	196528	ARID2	OMIM:617808
HP:0009121	Abnormal axial skeleton morphology	3720	JARID2	OMIM:620098
HP:0009121	Abnormal axial skeleton morphology	132	ADK	OMIM:614300
HP:0009121	Abnormal axial skeleton morphology	9759	HDAC4	ORPHA:1001
HP:0009121	Abnormal axial skeleton morphology	11133	KPTN	OMIM:615637
HP:0009121	Abnormal axial skeleton morphology	11133	KPTN	ORPHA:397612
HP:0009121	Abnormal axial skeleton morphology	79650	USB1	OMIM:604173
HP:0009121	Abnormal axial skeleton morphology	5160	PDHA1	OMIM:312170
HP:0009121	Abnormal axial skeleton morphology	4792	NFKBIA	OMIM:612132
HP:0009121	Abnormal axial skeleton morphology	2902	GRIN1	OMIM:617820
HP:0009121	Abnormal axial skeleton morphology	10735	STAG2	OMIM:301022
HP:0009121	Abnormal axial skeleton morphology	29940	DSE	OMIM:615539
HP:0009121	Abnormal axial skeleton morphology	8517	IKBKG	OMIM:300291
HP:0009121	Abnormal axial skeleton morphology	1000	CDH2	OMIM:618929
HP:0009121	Abnormal axial skeleton morphology	176	ACAN	OMIM:165800
HP:0009121	Abnormal axial skeleton morphology	3758	KCNJ1	OMIM:241200
HP:0009121	Abnormal axial skeleton morphology	54551	MAGEL2	OMIM:615547
HP:0009121	Abnormal axial skeleton morphology	9419	CRIPT	OMIM:615789
HP:0009121	Abnormal axial skeleton morphology	139285	AMER1	ORPHA:2780
HP:0009121	Abnormal axial skeleton morphology	139285	AMER1	OMIM:300373
HP:0009121	Abnormal axial skeleton morphology	55644	OSGEP	OMIM:617729
HP:0009121	Abnormal axial skeleton morphology	4337	MOCS1	OMIM:252150
HP:0009121	Abnormal axial skeleton morphology	51520	LARS1	OMIM:615438
HP:0009121	Abnormal axial skeleton morphology	4329	ALDH6A1	OMIM:614105
HP:0009121	Abnormal axial skeleton morphology	259232	NALCN	ORPHA:371364
HP:0009121	Abnormal axial skeleton morphology	7040	TGFB1	ORPHA:1328
HP:0009121	Abnormal axial skeleton morphology	5293	PIK3CD	ORPHA:221139
HP:0009121	Abnormal axial skeleton morphology	90417	KNSTRN	ORPHA:221139
HP:0009121	Abnormal axial skeleton morphology	8405	SPOP	OMIM:618829
HP:0009121	Abnormal axial skeleton morphology	128178	EDARADD	OMIM:224900
HP:0009121	Abnormal axial skeleton morphology	10913	EDAR	OMIM:224900
HP:0009121	Abnormal axial skeleton morphology	284252	KCTD1	OMIM:181270
HP:0009121	Abnormal axial skeleton morphology	60401	EDA2R	ORPHA:181
HP:0009121	Abnormal axial skeleton morphology	5500	PPP1CB	OMIM:617506
HP:0009121	Abnormal axial skeleton morphology	6519	SLC3A1	ORPHA:163690
HP:0009121	Abnormal axial skeleton morphology	6519	SLC3A1	ORPHA:163693
HP:0009121	Abnormal axial skeleton morphology	9581	PREPL	ORPHA:163690
HP:0009121	Abnormal axial skeleton morphology	9581	PREPL	ORPHA:163693
HP:0009121	Abnormal axial skeleton morphology	84628	NTNG2	OMIM:618718
HP:0009121	Abnormal axial skeleton morphology	113246	C12orf57	OMIM:218340
HP:0009121	Abnormal axial skeleton morphology	5495	PPM1B	ORPHA:163693
HP:0009121	Abnormal axial skeleton morphology	79823	CAMKMT	ORPHA:163693
HP:0009121	Abnormal axial skeleton morphology	51	ACOX1	OMIM:264470
HP:0009121	Abnormal axial skeleton morphology	5296	PIK3R2	OMIM:603387
HP:0009121	Abnormal axial skeleton morphology	8777	MPDZ	OMIM:615219
HP:0009121	Abnormal axial skeleton morphology	23389	MED13L	OMIM:616789
HP:0009121	Abnormal axial skeleton morphology	9757	KMT2B	OMIM:619934
HP:0009121	Abnormal axial skeleton morphology	9469	CHST3	OMIM:245600
HP:0009121	Abnormal axial skeleton morphology	26229	B3GAT3	OMIM:245600
HP:0009121	Abnormal axial skeleton morphology	2036	EPB41L1	OMIM:614257
HP:0009121	Abnormal axial skeleton morphology	10736	SIX2	ORPHA:488437
HP:0009121	Abnormal axial skeleton morphology	8398	PLA2G6	OMIM:256600
HP:0009121	Abnormal axial skeleton morphology	25	ABL1	OMIM:617602
HP:0009121	Abnormal axial skeleton morphology	1289	COL5A1	OMIM:130000
HP:0009121	Abnormal axial skeleton morphology	3769	KCNJ13	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	343035	RD3	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	145226	RDH12	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	1406	CRX	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	57096	RPGRIP1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	57096	RPGRIP1	ORPHA:564
HP:0009121	Abnormal axial skeleton morphology	10383	TUBB4B	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	85015	USP45	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	6121	RPE65	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	23418	CRB1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	9657	IQCB1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	23746	AIPL1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	3000	GUCY2D	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	9227	LRAT	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	55812	SPATA7	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	7287	TULP1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	167691	LCA5	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	3614	IMPDH1	ORPHA:65
HP:0009121	Abnormal axial skeleton morphology	160418	TMTC3	OMIM:617255
HP:0009121	Abnormal axial skeleton morphology	26005	C2CD3	OMIM:615948
HP:0009121	Abnormal axial skeleton morphology	11340	EXOSC8	OMIM:616081
HP:0009121	Abnormal axial skeleton morphology	23241	PACS2	OMIM:618067
HP:0009121	Abnormal axial skeleton morphology	2972	BRF1	OMIM:616202
HP:0009121	Abnormal axial skeleton morphology	2972	BRF1	ORPHA:444072
HP:0009121	Abnormal axial skeleton morphology	51611	DPH5	OMIM:620070
HP:0009121	Abnormal axial skeleton morphology	10978	CLP1	OMIM:615803
HP:0009121	Abnormal axial skeleton morphology	4718	NDUFC2	OMIM:619170
HP:0009121	Abnormal axial skeleton morphology	3899	AFF3	OMIM:619297
HP:0009121	Abnormal axial skeleton morphology	738	VPS51	OMIM:618606
HP:0009121	Abnormal axial skeleton morphology	284086	NEK8	OMIM:615415
HP:0009121	Abnormal axial skeleton morphology	501	ALDH7A1	ORPHA:3006
HP:0009121	Abnormal axial skeleton morphology	8884	SLC5A6	OMIM:618973
HP:0009121	Abnormal axial skeleton morphology	23203	PMPCA	ORPHA:1170
HP:0009121	Abnormal axial skeleton morphology	51300	TIMMDC1	OMIM:618251
HP:0009121	Abnormal axial skeleton morphology	57716	PRX	OMIM:614895
HP:0009121	Abnormal axial skeleton morphology	64919	BCL11B	OMIM:617237
HP:0009121	Abnormal axial skeleton morphology	10159	ATP6AP2	ORPHA:93952
HP:0009121	Abnormal axial skeleton morphology	6687	SPG7	ORPHA:99013
HP:0009121	Abnormal axial skeleton morphology	6687	SPG7	OMIM:607259
HP:0009121	Abnormal axial skeleton morphology	4359	MPZ	ORPHA:101082
HP:0009121	Abnormal axial skeleton morphology	4359	MPZ	OMIM:618184
HP:0009121	Abnormal axial skeleton morphology	4359	MPZ	ORPHA:3115
HP:0009121	Abnormal axial skeleton morphology	4359	MPZ	OMIM:145900
HP:0009121	Abnormal axial skeleton morphology	715	C1R	OMIM:130080
HP:0009121	Abnormal axial skeleton morphology	1742	DLG4	OMIM:618793
HP:0009121	Abnormal axial skeleton morphology	2395	FXN	OMIM:229300
HP:0009121	Abnormal axial skeleton morphology	2395	FXN	ORPHA:95
HP:0009121	Abnormal axial skeleton morphology	3508	IGHMBP2	OMIM:616155
HP:0009121	Abnormal axial skeleton morphology	55151	TMEM38B	OMIM:615066
HP:0009121	Abnormal axial skeleton morphology	2583	B4GALNT1	OMIM:609195
HP:0009121	Abnormal axial skeleton morphology	2583	B4GALNT1	ORPHA:101006
HP:0009121	Abnormal axial skeleton morphology	23005	MAPKBP1	OMIM:617271
HP:0009121	Abnormal axial skeleton morphology	80821	DDHD1	ORPHA:101008
HP:0009121	Abnormal axial skeleton morphology	80821	DDHD1	OMIM:609340
HP:0009121	Abnormal axial skeleton morphology	55975	KLHL7	OMIM:617055
HP:0009121	Abnormal axial skeleton morphology	54809	SAMD9	OMIM:617053
HP:0009121	Abnormal axial skeleton morphology	9829	DNAJC6	ORPHA:391411
HP:0009121	Abnormal axial skeleton morphology	5420	PODXL	ORPHA:391411
HP:0009121	Abnormal axial skeleton morphology	26278	SACS	OMIM:270550
HP:0009121	Abnormal axial skeleton morphology	779	CACNA1S	OMIM:620246
HP:0009121	Abnormal axial skeleton morphology	2643	GCH1	OMIM:128230
HP:0009121	Abnormal axial skeleton morphology	2643	GCH1	ORPHA:98808
HP:0009121	Abnormal axial skeleton morphology	80308	FLAD1	OMIM:255100
HP:0009121	Abnormal axial skeleton morphology	246243	RNASEH1	ORPHA:329336
HP:0009121	Abnormal axial skeleton morphology	79581	SLC52A2	OMIM:614707
HP:0009121	Abnormal axial skeleton morphology	5238	PGM3	OMIM:615816
HP:0009121	Abnormal axial skeleton morphology	823	CAPN1	OMIM:616907
HP:0009121	Abnormal axial skeleton morphology	823	CAPN1	ORPHA:488594
HP:0009121	Abnormal axial skeleton morphology	7274	TTPA	ORPHA:96
HP:0009121	Abnormal axial skeleton morphology	2255	FGF10	ORPHA:2363
HP:0009121	Abnormal axial skeleton morphology	4692	NDN	ORPHA:98754
HP:0009121	Abnormal axial skeleton morphology	4692	NDN	ORPHA:177904
HP:0009121	Abnormal axial skeleton morphology	4692	NDN	ORPHA:177901
HP:0009121	Abnormal axial skeleton morphology	57165	GJC2	OMIM:613206
HP:0009121	Abnormal axial skeleton morphology	8518	ELP1	OMIM:223900
HP:0009121	Abnormal axial skeleton morphology	8518	ELP1	ORPHA:1764
HP:0009121	Abnormal axial skeleton morphology	11235	PDCD10	ORPHA:221061
HP:0009121	Abnormal axial skeleton morphology	83605	CCM2	ORPHA:221061
HP:0009121	Abnormal axial skeleton morphology	889	KRIT1	ORPHA:221061
HP:0009121	Abnormal axial skeleton morphology	6652	SORD	OMIM:618912
HP:0009121	Abnormal axial skeleton morphology	10616	RBCK1	OMIM:615895
HP:0009121	Abnormal axial skeleton morphology	9378	NRXN1	OMIM:614325
HP:0009121	Abnormal axial skeleton morphology	6578	SLCO2A1	ORPHA:2796
HP:0009121	Abnormal axial skeleton morphology	23152	CIC	OMIM:617600
HP:0009121	Abnormal axial skeleton morphology	87178	PNPT1	OMIM:608703
HP:0009121	Abnormal axial skeleton morphology	87178	PNPT1	ORPHA:101111
HP:0009121	Abnormal axial skeleton morphology	80169	CTC1	OMIM:612199
HP:0009121	Abnormal axial skeleton morphology	80169	CTC1	ORPHA:1775
HP:0009121	Abnormal axial skeleton morphology	7920	ABHD16A	OMIM:619735
HP:0009121	Abnormal axial skeleton morphology	88	ACTN2	OMIM:618654
HP:0009121	Abnormal axial skeleton morphology	55012	PPP2R3C	OMIM:618419
HP:0009121	Abnormal axial skeleton morphology	54840	APTX	OMIM:208920
HP:0009121	Abnormal axial skeleton morphology	284439	SLC25A42	OMIM:618416
HP:0009121	Abnormal axial skeleton morphology	84504	NKX6-2	ORPHA:527497
HP:0009121	Abnormal axial skeleton morphology	9453	GGPS1	OMIM:619518
HP:0009121	Abnormal axial skeleton morphology	54902	TTC19	OMIM:615157
HP:0009121	Abnormal axial skeleton morphology	57863	CADM3	OMIM:619519
HP:0009121	Abnormal axial skeleton morphology	8898	MTMR2	OMIM:601382
HP:0009121	Abnormal axial skeleton morphology	22	ABCB7	ORPHA:2802
HP:0009121	Abnormal axial skeleton morphology	11107	PRDM5	ORPHA:90354
HP:0009121	Abnormal axial skeleton morphology	51062	ATL1	OMIM:182600
HP:0009121	Abnormal axial skeleton morphology	29929	ALG6	ORPHA:79320
HP:0009121	Abnormal axial skeleton morphology	51117	COQ4	OMIM:616276
HP:0009121	Abnormal axial skeleton morphology	203547	VMA21	OMIM:310440
HP:0009121	Abnormal axial skeleton morphology	23586	RIGI	OMIM:616298
HP:0009121	Abnormal axial skeleton morphology	137682	NDUFAF6	OMIM:618239
HP:0009121	Abnormal axial skeleton morphology	55967	NDUFA12	OMIM:618244
HP:0009121	Abnormal axial skeleton morphology	1822	ATN1	OMIM:618494
HP:0009121	Abnormal axial skeleton morphology	84668	HYCC1	OMIM:610532
HP:0009121	Abnormal axial skeleton morphology	716	C1S	OMIM:617174
HP:0009121	Abnormal axial skeleton morphology	55074	OXR1	OMIM:213000
HP:0009121	Abnormal axial skeleton morphology	5076	PAX2	OMIM:120330
HP:0009121	Abnormal axial skeleton morphology	5376	PMP22	ORPHA:640
HP:0009121	Abnormal axial skeleton morphology	5376	PMP22	ORPHA:3115
HP:0009121	Abnormal axial skeleton morphology	5376	PMP22	OMIM:145900
HP:0009121	Abnormal axial skeleton morphology	23769	FLRT1	ORPHA:320406
HP:0009121	Abnormal axial skeleton morphology	658	BMPR1B	ORPHA:93388
HP:0009121	Abnormal axial skeleton morphology	374393	FAM111B	OMIM:615704
HP:0009121	Abnormal axial skeleton morphology	121512	FGD4	OMIM:609311
HP:0009121	Abnormal axial skeleton morphology	375	ARF1	ORPHA:98892
HP:0009121	Abnormal axial skeleton morphology	81846	SBF2	ORPHA:99956
HP:0009121	Abnormal axial skeleton morphology	26353	HSPB8	OMIM:608673
HP:0009121	Abnormal axial skeleton morphology	23064	SETX	OMIM:606002
HP:0009121	Abnormal axial skeleton morphology	1959	EGR2	OMIM:145900
HP:0009121	Abnormal axial skeleton morphology	9420	CYP7B1	ORPHA:100986
HP:0009121	Abnormal axial skeleton morphology	9420	CYP7B1	OMIM:270800
HP:0009121	Abnormal axial skeleton morphology	89874	SLC25A21	OMIM:618811
HP:0009121	Abnormal axial skeleton morphology	4929	NR4A2	ORPHA:98808
HP:0009121	Abnormal axial skeleton morphology	3615	IMPDH2	ORPHA:98808
HP:0009121	Abnormal axial skeleton morphology	2767	GNA11	ORPHA:1556
HP:0009121	Abnormal axial skeleton morphology	151188	ARL6IP6	ORPHA:1556
HP:0009121	Abnormal axial skeleton morphology	57731	SPTBN4	OMIM:617519
HP:0009121	Abnormal axial skeleton morphology	4848	CNOT2	OMIM:618608
HP:0009121	Abnormal axial skeleton morphology	55135	WRAP53	ORPHA:1775
HP:0009121	Abnormal axial skeleton morphology	4869	NPM1	ORPHA:1775
HP:0009121	Abnormal axial skeleton morphology	7012	TERC	ORPHA:1775
HP:0009121	Abnormal axial skeleton morphology	9570	GOSR2	OMIM:614018
HP:0009121	Abnormal axial skeleton morphology	5885	RAD21	OMIM:614701
HP:0009121	Abnormal axial skeleton morphology	10273	STUB1	ORPHA:412057
HP:0009121	Abnormal axial skeleton morphology	7080	NKX2-1	ORPHA:209905
HP:0009121	Abnormal axial skeleton morphology	4094	MAF	ORPHA:1272
HP:0009121	Abnormal axial skeleton morphology	8985	PLOD3	OMIM:612394
HP:0009121	Abnormal axial skeleton morphology	65082	VPS33A	OMIM:617303
HP:0009121	Abnormal axial skeleton morphology	81794	ADAMTS10	OMIM:277600
HP:0009121	Abnormal axial skeleton morphology	6473	SHOX	ORPHA:240
HP:0009121	Abnormal axial skeleton morphology	4524	MTHFR	ORPHA:563612
HP:0009121	Abnormal axial skeleton morphology	57216	VANGL2	ORPHA:563612
HP:0009121	Abnormal axial skeleton morphology	5162	PDHB	ORPHA:255138
HP:0009121	Abnormal axial skeleton morphology	5649	RELN	ORPHA:89844
HP:0009121	Abnormal axial skeleton morphology	10300	KATNB1	ORPHA:89844
HP:0009121	Abnormal axial skeleton morphology	54820	NDE1	ORPHA:89844
HP:0009121	Abnormal axial skeleton morphology	6591	SNAI2	ORPHA:2884
HP:0009121	Abnormal axial skeleton morphology	3815	KIT	ORPHA:2884
HP:0009121	Abnormal axial skeleton morphology	2074	ERCC6	OMIM:133540
HP:0009121	Abnormal axial skeleton morphology	6424	SFRP4	OMIM:265900
HP:0009121	Abnormal axial skeleton morphology	8905	AP1S2	ORPHA:85335
HP:0009121	Abnormal axial skeleton morphology	8905	AP1S2	OMIM:304340
HP:0009121	Abnormal axial skeleton morphology	3248	HPGD	OMIM:259100
HP:0009121	Abnormal axial skeleton morphology	26503	SLC17A5	OMIM:604369
HP:0009121	Abnormal axial skeleton morphology	79639	TMEM53	OMIM:619727
HP:0009121	Abnormal axial skeleton morphology	1161	ERCC8	OMIM:216400
HP:0009121	Abnormal axial skeleton morphology	64135	IFIH1	OMIM:182250
HP:0009121	Abnormal axial skeleton morphology	84295	PHF6	OMIM:301900
HP:0009121	Abnormal axial skeleton morphology	6611	SMS	OMIM:309583
HP:0009121	Abnormal axial skeleton morphology	166929	SGMS2	OMIM:126550
HP:0009121	Abnormal axial skeleton morphology	27019	DNAI1	OMIM:244400
HP:0009121	Abnormal axial skeleton morphology	84196	USP48	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	7157	TP53	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	9101	USP8	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	64072	CDH23	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	2908	NR3C1	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	546	ATRX	ORPHA:96253
HP:0009121	Abnormal axial skeleton morphology	84992	PIGY	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	84720	PIGO	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	93210	PGAP3	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	284098	PIGW	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	27315	PGAP2	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	55650	PIGV	ORPHA:247262
HP:0009121	Abnormal axial skeleton morphology	29899	GPSM2	OMIM:604213
HP:0009121	Abnormal axial skeleton morphology	6522	SLC4A2	OMIM:620366
HP:0009121	Abnormal axial skeleton morphology	6834	SURF1	OMIM:616684
HP:0009121	Abnormal axial skeleton morphology	56704	JPH1	OMIM:607831
HP:0009121	Abnormal axial skeleton morphology	10430	TMEM147	OMIM:620075
HP:0009121	Abnormal axial skeleton morphology	9147	NEMF	OMIM:619099
HP:0009121	Abnormal axial skeleton morphology	10397	NDRG1	ORPHA:99950
HP:0009121	Abnormal axial skeleton morphology	10397	NDRG1	OMIM:601455
HP:0009121	Abnormal axial skeleton morphology	4547	MTTP	ORPHA:14
HP:0009121	Abnormal axial skeleton morphology	84896	ATAD1	OMIM:618011
HP:0009121	Abnormal axial skeleton morphology	4137	MAPT	OMIM:260540
HP:0009121	Abnormal axial skeleton morphology	8294	H4C9	OMIM:619951
HP:0009121	Abnormal axial skeleton morphology	6840	SVIL	OMIM:619040
HP:0009121	Abnormal axial skeleton morphology	3064	HTT	OMIM:617435
HP:0009121	Abnormal axial skeleton morphology	5424	POLD1	OMIM:615381
HP:0009121	Abnormal axial skeleton morphology	89780	WNT3A	ORPHA:85193
HP:0009121	Abnormal axial skeleton morphology	3782	KCNN3	OMIM:618658
HP:0009121	Abnormal axial skeleton morphology	113278	SLC52A3	OMIM:211530
HP:0009121	Abnormal axial skeleton morphology	2705	GJB1	ORPHA:101075
HP:0009121	Abnormal axial skeleton morphology	64837	KLC2	OMIM:609541
HP:0009121	Abnormal axial skeleton morphology	56052	ALG1	ORPHA:79327
HP:0009121	Abnormal axial skeleton morphology	57704	GBA2	OMIM:614409
HP:0009121	Abnormal axial skeleton morphology	51067	YARS2	ORPHA:2598
HP:0009121	Abnormal axial skeleton morphology	26100	WIPI2	OMIM:618453
HP:0009121	Abnormal axial skeleton morphology	2303	FOXC2	OMIM:153400
HP:0009121	Abnormal axial skeleton morphology	950	SCARB2	ORPHA:77259
HP:0009121	Abnormal axial skeleton morphology	7167	TPI1	OMIM:615512
HP:0009121	Abnormal axial skeleton morphology	55628	ZNF407	OMIM:619557
HP:0009121	Abnormal axial skeleton morphology	51103	NDUFAF1	OMIM:618234
HP:0009121	Abnormal axial skeleton morphology	29078	NDUFAF4	OMIM:618237
HP:0009121	Abnormal axial skeleton morphology	28982	FLVCR1	ORPHA:88628
HP:0009121	Abnormal axial skeleton morphology	8888	MCM3AP	OMIM:618124
HP:0009121	Abnormal axial skeleton morphology	54681	P4HTM	OMIM:618493
HP:0009121	Abnormal axial skeleton morphology	59336	PRDM13	OMIM:619909
HP:0009121	Abnormal axial skeleton morphology	283446	MYO1H	OMIM:619482
HP:0009121	Abnormal axial skeleton morphology	57477	SHROOM4	ORPHA:85288
HP:0009121	Abnormal axial skeleton morphology	91875	TTC5	OMIM:619244
HP:0009121	Abnormal axial skeleton morphology	90416	CCDC32	OMIM:619123
HP:0009121	Abnormal axial skeleton morphology	79152	FA2H	ORPHA:171629
HP:0009121	Abnormal axial skeleton morphology	1315	COPB1	OMIM:619255
HP:0009121	Abnormal axial skeleton morphology	8558	CDK10	OMIM:617694
HP:0009121	Abnormal axial skeleton morphology	6650	CAPN15	OMIM:619318
HP:0009121	Abnormal axial skeleton morphology	9723	SEMA3E	ORPHA:138
HP:0009121	Abnormal axial skeleton morphology	2617	GARS1	OMIM:619042
HP:0009121	Abnormal axial skeleton morphology	10216	PRG4	ORPHA:2848
HP:0009121	Abnormal axial skeleton morphology	57156	TMEM63C	OMIM:619966
HP:0009121	Abnormal axial skeleton morphology	157680	VPS13B	OMIM:216550
HP:0009121	Abnormal axial skeleton morphology	57531	HACE1	OMIM:616756
HP:0009121	Abnormal axial skeleton morphology	9927	MFN2	OMIM:601152
HP:0009121	Abnormal axial skeleton morphology	85301	COL27A1	OMIM:615155
HP:0009121	Abnormal axial skeleton morphology	6857	SYT1	ORPHA:522077
HP:0009121	Abnormal axial skeleton morphology	23529	CLCF1	OMIM:610313
HP:0009121	Abnormal axial skeleton morphology	50515	CHST11	OMIM:618167
HP:0009121	Abnormal axial skeleton morphology	3991	LIPE	OMIM:615980
HP:0009121	Abnormal axial skeleton morphology	124997	WDR81	OMIM:610185
HP:0009121	Abnormal axial skeleton morphology	224	ALDH3A2	OMIM:270200
HP:0009121	Abnormal axial skeleton morphology	23133	PHF8	OMIM:300263
HP:0009121	Abnormal axial skeleton morphology	91574	MTRFR	ORPHA:254930
HP:0009121	Abnormal axial skeleton morphology	3094	HINT1	ORPHA:324442
HP:0009121	Abnormal axial skeleton morphology	10613	ERLIN1	ORPHA:401785
HP:0009121	Abnormal axial skeleton morphology	10613	ERLIN1	OMIM:615681
HP:0009121	Abnormal axial skeleton morphology	84700	MYO18B	OMIM:616549
HP:0009121	Abnormal axial skeleton morphology	64412	GZF1	OMIM:617662
HP:0009121	Abnormal axial skeleton morphology	8200	GDF5	OMIM:610017
HP:0009121	Abnormal axial skeleton morphology	10126	DNAL4	ORPHA:238722
HP:0009121	Abnormal axial skeleton morphology	9423	NTN1	ORPHA:238722
HP:0009121	Abnormal axial skeleton morphology	1630	DCC	ORPHA:238722
HP:0009121	Abnormal axial skeleton morphology	368	ABCC6	ORPHA:51608
HP:0009121	Abnormal axial skeleton morphology	7390	UROS	OMIM:263700
HP:0009121	Abnormal axial skeleton morphology	5621	PRNP	ORPHA:157941
HP:0009121	Abnormal axial skeleton morphology	7138	TNNT1	ORPHA:98902
HP:0009121	Abnormal axial skeleton morphology	7138	TNNT1	OMIM:605355
HP:0009121	Abnormal axial skeleton morphology	4054	LTBP3	ORPHA:969
HP:0009121	Abnormal axial skeleton morphology	51119	SBDS	OMIM:260400
HP:0009121	Abnormal axial skeleton morphology	134218	DNAJC21	OMIM:260400
HP:0009121	Abnormal axial skeleton morphology	6729	SRP54	OMIM:260400
HP:0009121	Abnormal axial skeleton morphology	50485	SMARCAL1	ORPHA:1830
HP:0009121	Abnormal axial skeleton morphology	50485	SMARCAL1	OMIM:242900
HP:0009121	Abnormal axial skeleton morphology	54187	NANS	OMIM:610442
HP:0009121	Abnormal axial skeleton morphology	9060	PAPSS2	OMIM:612847
HP:0009121	Abnormal axial skeleton morphology	8443	GNPAT	OMIM:222765
HP:0009121	Abnormal axial skeleton morphology	1299	COL9A3	ORPHA:250984
HP:0009121	Abnormal axial skeleton morphology	84695	LOXL3	ORPHA:250984
HP:0009121	Abnormal axial skeleton morphology	8106	PABPN1	ORPHA:270
HP:0009121	Abnormal axial skeleton morphology	10992	SF3B2	OMIM:164210
HP:0009121	Abnormal axial skeleton morphology	92667	MGME1	ORPHA:352447
HP:0009121	Abnormal axial skeleton morphology	92667	MGME1	OMIM:615084
HP:0009121	Abnormal axial skeleton morphology	9325	TRIP4	OMIM:617066
HP:0009121	Abnormal axial skeleton morphology	9325	TRIP4	ORPHA:486815
HP:0009121	Abnormal axial skeleton morphology	3714	JAG2	OMIM:619566
HP:0009121	Abnormal axial skeleton morphology	84876	ORAI1	OMIM:615883
HP:0009121	Abnormal axial skeleton morphology	60482	SLC5A7	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	4649	MYO9A	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	1103	CHAT	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	6576	SLC25A1	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	6843	VAMP1	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	6843	VAMP1	OMIM:618323
HP:0009121	Abnormal axial skeleton morphology	127833	SYT2	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	6572	SLC18A3	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	6616	SNAP25	ORPHA:98914
HP:0009121	Abnormal axial skeleton morphology	26092	TOR1AIP1	OMIM:617072
HP:0009121	Abnormal axial skeleton morphology	339855	KY	OMIM:617114
HP:0009121	Abnormal axial skeleton morphology	389827	MYMK	OMIM:254940
HP:0009121	Abnormal axial skeleton morphology	5979	RET	OMIM:162300
HP:0009121	Abnormal axial skeleton morphology	57190	SELENON	ORPHA:97244
HP:0009121	Abnormal axial skeleton morphology	57190	SELENON	ORPHA:2020
HP:0009121	Abnormal axial skeleton morphology	8367	H4C5	OMIM:619950
HP:0009121	Abnormal axial skeleton morphology	60684	TRAPPC11	OMIM:615356
HP:0009121	Abnormal axial skeleton morphology	60684	TRAPPC11	ORPHA:369840
HP:0009121	Abnormal axial skeleton morphology	23394	ADNP	OMIM:615873
HP:0009121	Abnormal axial skeleton morphology	1756	DMD	OMIM:310200
HP:0009121	Abnormal axial skeleton morphology	22947	DUX4L1	ORPHA:269
HP:0009121	Abnormal axial skeleton morphology	1789	DNMT3B	ORPHA:269
HP:0009121	Abnormal axial skeleton morphology	100288687	DUX4	ORPHA:269
HP:0009121	Abnormal axial skeleton morphology	56203	LMOD3	ORPHA:171436
HP:0009121	Abnormal axial skeleton morphology	1073	CFL2	ORPHA:171436
HP:0009121	Abnormal axial skeleton morphology	613	BCR	ORPHA:261330
HP:0009121	Abnormal axial skeleton morphology	1399	CRKL	ORPHA:261330
HP:0009121	Abnormal axial skeleton morphology	5594	MAPK1	ORPHA:261330
HP:0009121	Abnormal axial skeleton morphology	55209	SETD5	OMIM:615761
HP:0009121	Abnormal axial skeleton morphology	1763	DNA2	ORPHA:352470
HP:0009121	Abnormal axial skeleton morphology	1763	DNA2	OMIM:615156
HP:0009121	Abnormal axial skeleton morphology	5818	NECTIN1	ORPHA:3253
HP:0009121	Abnormal axial skeleton morphology	3897	L1CAM	OMIM:303350
HP:0009121	Abnormal axial skeleton morphology	3908	LAMA2	ORPHA:258
HP:0009121	Abnormal axial skeleton morphology	79147	FKRP	OMIM:607155
HP:0009121	Abnormal axial skeleton morphology	79147	FKRP	OMIM:606612
HP:0009121	Abnormal axial skeleton morphology	6335	SCN9A	ORPHA:970
HP:0009121	Abnormal axial skeleton morphology	65125	WNK1	ORPHA:970
HP:0009121	Abnormal axial skeleton morphology	54463	RETREG1	ORPHA:970
HP:0009121	Abnormal axial skeleton morphology	84572	GNPTG	OMIM:252605
HP:0009121	Abnormal axial skeleton morphology	10940	POP1	OMIM:617396
HP:0009121	Abnormal axial skeleton morphology	3549	IHH	ORPHA:63446
HP:0009121	Abnormal axial skeleton morphology	284058	KANSL1	ORPHA:363958
HP:0009121	Abnormal axial skeleton morphology	284058	KANSL1	ORPHA:363965
HP:0009121	Abnormal axial skeleton morphology	55906	ZC4H2	OMIM:314580
HP:0009121	Abnormal axial skeleton morphology	84068	SLC10A7	OMIM:618363
HP:0009121	Abnormal axial skeleton morphology	7020	TFAP2A	OMIM:113620
HP:0009121	Abnormal axial skeleton morphology	4633	MYL2	ORPHA:2020
HP:0009121	Abnormal axial skeleton morphology	3679	ITGA7	ORPHA:2020
HP:0009121	Abnormal axial skeleton morphology	9200	HACD1	ORPHA:2020
HP:0009121	Abnormal axial skeleton morphology	51776	MAP3K20	ORPHA:2020
HP:0009121	Abnormal axial skeleton morphology	51776	MAP3K20	OMIM:617760
HP:0009121	Abnormal axial skeleton morphology	3188	HNRNPH2	OMIM:300986
HP:0009121	Abnormal axial skeleton morphology	57449	PLEKHG5	OMIM:611067
HP:0009121	Abnormal axial skeleton morphology	2218	FKTN	OMIM:611588
HP:0009121	Abnormal axial skeleton morphology	50814	NSDHL	OMIM:300831
HP:0009121	Abnormal axial skeleton morphology	8493	PPM1D	OMIM:617450
HP:0009121	Abnormal axial skeleton morphology	1785	DNM2	OMIM:160150
HP:0009121	Abnormal axial skeleton morphology	64419	MTMR14	OMIM:160150
HP:0009121	Abnormal axial skeleton morphology	6911	TBX6	ORPHA:1797
HP:0009121	Abnormal axial skeleton morphology	124583	CANT1	OMIM:251450
HP:0009121	Abnormal axial skeleton morphology	3178	HNRNPA1	ORPHA:52430
HP:0009121	Abnormal axial skeleton morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0009121	Abnormal axial skeleton morphology	7030	TFE3	OMIM:301066
HP:0009121	Abnormal axial skeleton morphology	23162	MAPK8IP3	OMIM:618443
HP:0009121	Abnormal axial skeleton morphology	22930	RAB3GAP1	ORPHA:1387
HP:0009121	Abnormal axial skeleton morphology	25782	RAB3GAP2	ORPHA:1387
HP:0009121	Abnormal axial skeleton morphology	55624	POMGNT1	OMIM:613157
HP:0009121	Abnormal axial skeleton morphology	10584	COLEC10	ORPHA:293843
HP:0009121	Abnormal axial skeleton morphology	5286	PIK3C2A	ORPHA:557003
HP:0009121	Abnormal axial skeleton morphology	9427	ECEL1	OMIM:615065
HP:0009121	Abnormal axial skeleton morphology	51763	INPP5K	OMIM:617404
HP:0009121	Abnormal axial skeleton morphology	284119	CAVIN1	OMIM:613327
HP:0009121	Abnormal axial skeleton morphology	1861	TOR1A	OMIM:128100
HP:0009121	Abnormal axial skeleton morphology	6448	SGSH	OMIM:252900
HP:0009121	Abnormal axial skeleton morphology	4669	NAGLU	OMIM:252920
HP:0009121	Abnormal axial skeleton morphology	9131	AIFM1	OMIM:300232
HP:0009121	Abnormal axial skeleton morphology	2588	GALNS	OMIM:253000
HP:0009121	Abnormal axial skeleton morphology	2990	GUSB	OMIM:253220
HP:0009121	Abnormal axial skeleton morphology	411	ARSB	OMIM:253200
HP:0009121	Abnormal axial skeleton morphology	9451	EIF2AK3	OMIM:226980
HP:0009121	Abnormal axial skeleton morphology	83452	RAB33B	OMIM:615222
HP:0009121	Abnormal axial skeleton morphology	5573	PRKAR1A	ORPHA:950
HP:0009121	Abnormal axial skeleton morphology	23169	SLC35D1	ORPHA:3144
HP:0009121	Abnormal axial skeleton morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0009121	Abnormal axial skeleton morphology	6023	RMRP	ORPHA:175
HP:0009121	Abnormal axial skeleton morphology	134701	RIPPLY2	ORPHA:2311
HP:0009121	Abnormal axial skeleton morphology	10683	DLL3	ORPHA:2311
HP:0009121	Abnormal axial skeleton morphology	3955	LFNG	ORPHA:2311
HP:0009121	Abnormal axial skeleton morphology	84667	HES7	ORPHA:2311
HP:0009121	Abnormal axial skeleton morphology	145873	MESP2	ORPHA:2311
HP:0009121	Abnormal axial skeleton morphology	4323	MMP14	ORPHA:371428
HP:0009121	Abnormal axial skeleton morphology	4854	NOTCH3	ORPHA:2789
HP:0009121	Abnormal axial skeleton morphology	53834	FGFRL1	OMIM:194190
HP:0009121	Abnormal axial skeleton morphology	9361	LONP1	ORPHA:1458
HP:0009121	Abnormal axial skeleton morphology	6885	MAP3K7	ORPHA:3238
HP:0009121	Abnormal axial skeleton morphology	54361	WNT4	ORPHA:3109
HP:0009121	Abnormal axial skeleton morphology	6804	STX1A	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	7461	CLIP2	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	84277	DNAJC30	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	8468	FKBP6	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	5982	RFC2	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	2969	GTF2I	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	3984	LIMK1	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	9569	GTF2IRD1	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	155382	VPS37D	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	155368	METTL27	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	114049	BUD23	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	7458	EIF4H	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	84163	GTF2IRD2	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	9275	BCL7B	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	26608	TBL2	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	653361	NCF1	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	135886	TMEM270	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	51085	MLXIPL	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	9031	BAZ1B	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	2006	ELN	ORPHA:904
HP:0009121	Abnormal axial skeleton morphology	207	AKT1	ORPHA:744
HP:0009121	Abnormal axial skeleton morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0009121	Abnormal axial skeleton morphology	10262	SF3B4	ORPHA:1788
HP:0009121	Abnormal axial skeleton morphology	60681	FKBP10	ORPHA:1149
HP:0009121	Abnormal axial skeleton morphology	63895	PIEZO2	ORPHA:2461
HP:0009121	Abnormal axial skeleton morphology	79087	ALG12	OMIM:607143
HP:0009121	Abnormal axial skeleton morphology	23498	HAAO	OMIM:617660
HP:0009121	Abnormal axial skeleton morphology	9382	COG1	OMIM:611209
HP:0009121	Abnormal axial skeleton morphology	9382	COG1	ORPHA:263508
HP:0009121	Abnormal axial skeleton morphology	3911	LAMA5	OMIM:620076
HP:0009121	Abnormal axial skeleton morphology	9150	CTDP1	ORPHA:48431
HP:0009121	Abnormal axial skeleton morphology	113189	CHST14	ORPHA:2953
HP:0009121	Abnormal axial skeleton morphology	6775	STAT4	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	3560	IL2RB	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	79722	ANKRD55	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	26191	PTPN22	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	919	CD247	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	3559	IL2RA	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	5771	PTPN2	ORPHA:85408
HP:0009121	Abnormal axial skeleton morphology	9907	AP5Z1	ORPHA:306511
HP:0009121	Abnormal axial skeleton morphology	1009	CDH11	ORPHA:1299
HP:0009121	Abnormal axial skeleton morphology	84905	ZNF341	OMIM:618282
HP:0009121	Abnormal axial skeleton morphology	22800	RRAS2	OMIM:618624
HP:0009121	Abnormal axial skeleton morphology	9241	NOG	OMIM:186500
HP:0009121	Abnormal axial skeleton morphology	7276	TTR	ORPHA:85451
HP:0009121	Abnormal axial skeleton morphology	3313	HSPA9	OMIM:616854
HP:0009121	Abnormal axial skeleton morphology	84265	POLR3GL	OMIM:619234
HP:0009121	Abnormal axial skeleton morphology	540	ATP7B	ORPHA:905
HP:0009121	Abnormal axial skeleton morphology	4771	NF2	ORPHA:2495
HP:0009121	Abnormal axial skeleton morphology	5155	PDGFB	ORPHA:2495
HP:0009121	Abnormal axial skeleton morphology	84231	TRAF7	ORPHA:2495
HP:0009121	Abnormal axial skeleton morphology	7015	TERT	ORPHA:2495
HP:0009121	Abnormal axial skeleton morphology	6605	SMARCE1	ORPHA:2495
HP:0009121	Abnormal axial skeleton morphology	5589	PRKCSH	OMIM:174050
HP:0009121	Abnormal axial skeleton morphology	5589	PRKCSH	ORPHA:2924
HP:0009121	Abnormal axial skeleton morphology	56606	SLC2A9	ORPHA:94088
HP:0009121	Abnormal axial skeleton morphology	116085	SLC22A12	ORPHA:94088
HP:0009121	Abnormal axial skeleton morphology	3075	CFH	ORPHA:244242
HP:0009121	Abnormal axial skeleton morphology	3426	CFI	ORPHA:244242
HP:0009121	Abnormal axial skeleton morphology	4179	CD46	ORPHA:244242
HP:0009121	Abnormal axial skeleton morphology	101101692	HELLPAR	ORPHA:244242
HP:0009121	Abnormal axial skeleton morphology	11231	SEC63	ORPHA:2924
HP:0009121	Abnormal axial skeleton morphology	7428	VHL	ORPHA:892
HP:0009121	Abnormal axial skeleton morphology	595	CCND1	ORPHA:892
HP:0009121	Abnormal axial skeleton morphology	215	ABCD1	ORPHA:139399
HP:0009121	Abnormal axial skeleton morphology	5921	RASA1	ORPHA:90307
HP:0009121	Abnormal axial skeleton morphology	3106	HLA-B	OMIM:106300
HP:0009121	Abnormal axial skeleton morphology	285282	RABL3	ORPHA:1333
HP:0009121	Abnormal axial skeleton morphology	1029	CDKN2A	ORPHA:1333
HP:0009121	Abnormal axial skeleton morphology	23022	PALLD	ORPHA:1333
HP:0009121	Abnormal axial skeleton morphology	1371	CPOX	ORPHA:79273
HP:0009121	Abnormal axial skeleton morphology	9096	TBX18	OMIM:143400
HP:0009121	Abnormal axial skeleton morphology	5498	PPOX	ORPHA:79473
HP:0009121	Abnormal axial skeleton morphology	3145	HMBS	ORPHA:79276
HP:0009121	Abnormal axial skeleton morphology	5654	HTRA1	OMIM:600142
HP:0009121	Abnormal axial skeleton morphology	4665	NAB2	ORPHA:2126
HP:0009121	Abnormal axial skeleton morphology	6778	STAT6	ORPHA:2126
HP:0009121	Abnormal axial skeleton morphology	6683	SPAST	OMIM:182601
HP:0009121	Abnormal axial skeleton morphology	7486	WRN	OMIM:277700
HP:0009121	Abnormal axial skeleton morphology	341640	FREM2	ORPHA:2052
HP:0009121	Abnormal axial skeleton morphology	23426	GRIP1	ORPHA:2052
HP:0009121	Abnormal axial skeleton morphology	1131	CHRM3	ORPHA:2970
HP:0009121	Abnormal axial skeleton morphology	7140	TNNT3	ORPHA:1147
HP:0009121	Abnormal axial skeleton morphology	4621	MYH3	ORPHA:1147
HP:0009121	Abnormal axial skeleton morphology	4621	MYH3	ORPHA:2990
HP:0009121	Abnormal axial skeleton morphology	7136	TNNI2	ORPHA:1147
HP:0009121	Abnormal axial skeleton morphology	55191	NADSYN1	OMIM:618845
HP:0009121	Abnormal axial skeleton morphology	1146	CHRNG	ORPHA:2990
HP:0009121	Abnormal axial skeleton morphology	4921	DDR2	OMIM:271665
HP:0009121	Abnormal axial skeleton morphology	55033	FKBP14	OMIM:614557
HP:0009121	Abnormal axial skeleton morphology	2623	GATA1	OMIM:190685
HP:0009121	Abnormal axial skeleton morphology	415	ARSL	ORPHA:79345
HP:0009121	Abnormal axial skeleton morphology	5476	CTSA	ORPHA:351
HP:0009121	Abnormal axial skeleton morphology	2187	FANCB	OMIM:300514
HP:0009121	Abnormal axial skeleton morphology	2187	FANCB	OMIM:314390
HP:0009121	Abnormal axial skeleton morphology	2335	FN1	ORPHA:93315
HP:0009121	Abnormal axial skeleton morphology	23233	EXOC6B	ORPHA:93359
HP:0009121	Abnormal axial skeleton morphology	126792	B3GALT6	ORPHA:93359
HP:0009121	Abnormal axial skeleton morphology	91754	NEK9	ORPHA:64754
HP:0009121	Abnormal axial skeleton morphology	23028	KDM1A	OMIM:616728
HP:0009121	Abnormal axial skeleton morphology	65992	DDRGK1	ORPHA:93352
HP:0009121	Abnormal axial skeleton morphology	3425	IDUA	ORPHA:93473
HP:0009121	Abnormal axial skeleton morphology	3425	IDUA	ORPHA:93476
HP:0009121	Abnormal axial skeleton morphology	5745	PTH1R	OMIM:215045
HP:0009121	Abnormal axial skeleton morphology	28514	DLL1	OMIM:618709
HP:0009121	Abnormal axial skeleton morphology	28514	DLL1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	27125	AFF4	ORPHA:444077
HP:0009121	Abnormal axial skeleton morphology	78989	COLEC11	OMIM:265050
HP:0009121	Abnormal axial skeleton morphology	7547	ZIC3	OMIM:314390
HP:0009121	Abnormal axial skeleton morphology	26275	HIBCH	ORPHA:88639
HP:0009121	Abnormal axial skeleton morphology	26275	HIBCH	OMIM:250620
HP:0009121	Abnormal axial skeleton morphology	2253	FGF8	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	6496	SIX3	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	7050	TGIF1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	4838	NODAL	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	6469	SHH	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	7546	ZIC2	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	6491	STIL	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	2619	GAS1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	84976	DISP1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	2736	GLI2	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	8928	FOXH1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	5727	PTCH1	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	50937	CDON	ORPHA:280195
HP:0009121	Abnormal axial skeleton morphology	54806	AHI1	ORPHA:220493
HP:0009121	Abnormal axial skeleton morphology	56623	INPP5E	ORPHA:220493
HP:0009121	Abnormal axial skeleton morphology	153241	CEP120	ORPHA:220493
HP:0009121	Abnormal axial skeleton morphology	54903	MKS1	ORPHA:220493
HP:0009121	Abnormal axial skeleton morphology	95681	CEP41	ORPHA:220493
HP:0009121	Abnormal axial skeleton morphology	6299	SALL1	ORPHA:857
HP:0009121	Abnormal axial skeleton morphology	51339	DACT1	ORPHA:857
HP:0009121	Abnormal axial skeleton morphology	84919	PPP1R15B	OMIM:616817
HP:0009121	Abnormal axial skeleton morphology	90	ACVR1	ORPHA:337
HP:0009121	Abnormal axial skeleton morphology	3423	IDS	ORPHA:217093
HP:0009121	Abnormal axial skeleton morphology	3423	IDS	ORPHA:217085
HP:0009121	Abnormal axial skeleton morphology	6657	SOX2	ORPHA:77298
HP:0009121	Abnormal axial skeleton morphology	1300	COL10A1	ORPHA:174
HP:0009121	Abnormal axial skeleton morphology	51360	MBTPS2	ORPHA:2273
HP:0009121	Abnormal axial skeleton morphology	157570	ESCO2	ORPHA:2319
HP:0009121	Abnormal axial skeleton morphology	1302	COL11A2	ORPHA:1427
HP:0009121	Abnormal axial skeleton morphology	6910	TBX5	OMIM:142900
HP:0009121	Abnormal axial skeleton morphology	2294	FOXF1	ORPHA:210122
HP:0009121	Abnormal axial skeleton morphology	10815	CPLX1	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	54872	PIGG	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	7469	NELFA	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	1487	CTBP1	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	3954	LETM1	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	7468	NSD2	ORPHA:280
HP:0009121	Abnormal axial skeleton morphology	25970	SH2B1	ORPHA:261197
HP:0009121	Abnormal axial skeleton morphology	175	AGA	ORPHA:93
HP:0009121	Abnormal axial skeleton morphology	374654	KIF7	ORPHA:166024
HP:0009121	Abnormal axial skeleton morphology	8085	KMT2D	OMIM:147920
HP:0009121	Abnormal axial skeleton morphology	7403	KDM6A	OMIM:147920
HP:0009121	Abnormal axial skeleton morphology	6862	TBXT	OMIM:615709
HP:0009121	Abnormal axial skeleton morphology	274	BIN1	ORPHA:169186
HP:0009121	Abnormal axial skeleton morphology	274	BIN1	OMIM:255200
HP:0009121	Abnormal axial skeleton morphology	10290	SPEG	ORPHA:169186
HP:0009121	Abnormal axial skeleton morphology	6261	RYR1	ORPHA:169186
HP:0009121	Abnormal axial skeleton morphology	6261	RYR1	ORPHA:424107
HP:0009121	Abnormal axial skeleton morphology	7273	TTN	ORPHA:169186
HP:0009121	Abnormal axial skeleton morphology	7273	TTN	OMIM:603689
HP:0009121	Abnormal axial skeleton morphology	79912	PYROXD1	OMIM:617258
HP:0009121	Abnormal axial skeleton morphology	825	CAPN3	OMIM:253600
HP:0009121	Abnormal axial skeleton morphology	825	CAPN3	ORPHA:267
HP:0009121	Abnormal axial skeleton morphology	825	CAPN3	OMIM:618129
HP:0009121	Abnormal axial skeleton morphology	6442	SGCA	OMIM:608099
HP:0009121	Abnormal axial skeleton morphology	6442	SGCA	ORPHA:62
HP:0009121	Abnormal axial skeleton morphology	8291	DYSF	ORPHA:268
HP:0009121	Abnormal axial skeleton morphology	7084	TK2	ORPHA:254886
HP:0009121	Abnormal axial skeleton morphology	7084	TK2	OMIM:617069
HP:0009121	Abnormal axial skeleton morphology	5428	POLG	ORPHA:254886
HP:0009121	Abnormal axial skeleton morphology	5428	POLG	OMIM:607459
HP:0009121	Abnormal axial skeleton morphology	729920	CRPPA	OMIM:616052
HP:0009121	Abnormal axial skeleton morphology	729920	CRPPA	ORPHA:352479
HP:0009121	Abnormal axial skeleton morphology	55790	CSGALNACT1	OMIM:618870
HP:0009121	Abnormal axial skeleton morphology	58	ACTA1	OMIM:616852
HP:0009121	Abnormal axial skeleton morphology	58	ACTA1	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	6443	SGCB	OMIM:604286
HP:0009121	Abnormal axial skeleton morphology	2992	GYG1	OMIM:613507
HP:0009121	Abnormal axial skeleton morphology	25778	DSTYK	OMIM:270750
HP:0009121	Abnormal axial skeleton morphology	29925	GMPPB	ORPHA:353327
HP:0009121	Abnormal axial skeleton morphology	2673	GFPT1	ORPHA:353327
HP:0009121	Abnormal axial skeleton morphology	1798	DPAGT1	ORPHA:353327
HP:0009121	Abnormal axial skeleton morphology	85365	ALG2	ORPHA:353327
HP:0009121	Abnormal axial skeleton morphology	85365	ALG2	OMIM:616228
HP:0009121	Abnormal axial skeleton morphology	199857	ALG14	ORPHA:353327
HP:0009121	Abnormal axial skeleton morphology	10059	DNM1L	ORPHA:98673
HP:0009121	Abnormal axial skeleton morphology	4976	OPA1	ORPHA:98673
HP:0009121	Abnormal axial skeleton morphology	6444	SGCD	OMIM:601287
HP:0009121	Abnormal axial skeleton morphology	6444	SGCD	ORPHA:219
HP:0009121	Abnormal axial skeleton morphology	2273	FHL1	OMIM:300696
HP:0009121	Abnormal axial skeleton morphology	2273	FHL1	OMIM:300695
HP:0009121	Abnormal axial skeleton morphology	2273	FHL1	ORPHA:98863
HP:0009121	Abnormal axial skeleton morphology	2483	FRG1	OMIM:158900
HP:0009121	Abnormal axial skeleton morphology	23347	SMCHD1	OMIM:158901
HP:0009121	Abnormal axial skeleton morphology	55870	ASH1L	OMIM:617796
HP:0009121	Abnormal axial skeleton morphology	8878	SQSTM1	OMIM:617158
HP:0009121	Abnormal axial skeleton morphology	7169	TPM2	OMIM:609285
HP:0009121	Abnormal axial skeleton morphology	7169	TPM2	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	64856	VWA1	OMIM:619216
HP:0009121	Abnormal axial skeleton morphology	311	ANXA11	OMIM:619733
HP:0009121	Abnormal axial skeleton morphology	4604	MYBPC1	OMIM:618524
HP:0009121	Abnormal axial skeleton morphology	2138	EYA1	ORPHA:2792
HP:0009121	Abnormal axial skeleton morphology	2138	EYA1	OMIM:166780
HP:0009121	Abnormal axial skeleton morphology	5075	PAX1	ORPHA:2792
HP:0009121	Abnormal axial skeleton morphology	5075	PAX1	OMIM:615560
HP:0009121	Abnormal axial skeleton morphology	4625	MYH7	OMIM:608358
HP:0009121	Abnormal axial skeleton morphology	4625	MYH7	ORPHA:437572
HP:0009121	Abnormal axial skeleton morphology	3759	KCNJ2	OMIM:170390
HP:0009121	Abnormal axial skeleton morphology	5077	PAX3	OMIM:148820
HP:0009121	Abnormal axial skeleton morphology	10020	GNE	ORPHA:602
HP:0009121	Abnormal axial skeleton morphology	4620	MYH2	OMIM:605637
HP:0009121	Abnormal axial skeleton morphology	80324	PUS1	OMIM:600462
HP:0009121	Abnormal axial skeleton morphology	1303	COL12A1	OMIM:616471
HP:0009121	Abnormal axial skeleton morphology	1303	COL12A1	ORPHA:610
HP:0009121	Abnormal axial skeleton morphology	83636	C19orf12	OMIM:614298
HP:0009121	Abnormal axial skeleton morphology	23545	ATP6V0A2	OMIM:278250
HP:0009121	Abnormal axial skeleton morphology	200734	SPRED2	OMIM:619745
HP:0009121	Abnormal axial skeleton morphology	9531	BAG3	OMIM:612954
HP:0009121	Abnormal axial skeleton morphology	4747	NEFL	ORPHA:101085
HP:0009121	Abnormal axial skeleton morphology	2200	FBN1	OMIM:616914
HP:0009121	Abnormal axial skeleton morphology	6445	SGCG	ORPHA:353
HP:0009121	Abnormal axial skeleton morphology	55791	LRIF1	OMIM:619477
HP:0009121	Abnormal axial skeleton morphology	84665	MYPN	OMIM:617336
HP:0009121	Abnormal axial skeleton morphology	84665	MYPN	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	5781	PTPN11	ORPHA:500
HP:0009121	Abnormal axial skeleton morphology	5781	PTPN11	OMIM:151100
HP:0009121	Abnormal axial skeleton morphology	5894	RAF1	ORPHA:500
HP:0009121	Abnormal axial skeleton morphology	7204	TRIO	OMIM:617061
HP:0009121	Abnormal axial skeleton morphology	10220	GDF11	OMIM:619122
HP:0009121	Abnormal axial skeleton morphology	163175	LGI4	OMIM:617468
HP:0009121	Abnormal axial skeleton morphology	8292	COLQ	ORPHA:98915
HP:0009121	Abnormal axial skeleton morphology	3913	LAMB2	ORPHA:98915
HP:0009121	Abnormal axial skeleton morphology	1291	COL6A1	ORPHA:610
HP:0009121	Abnormal axial skeleton morphology	1292	COL6A2	ORPHA:610
HP:0009121	Abnormal axial skeleton morphology	1293	COL6A3	ORPHA:610
HP:0009121	Abnormal axial skeleton morphology	23299	BICD2	OMIM:615290
HP:0009121	Abnormal axial skeleton morphology	11117	EMILIN1	OMIM:620080
HP:0009121	Abnormal axial skeleton morphology	56983	POGLUT1	OMIM:617232
HP:0009121	Abnormal axial skeleton morphology	57479	PRR12	OMIM:619539
HP:0009121	Abnormal axial skeleton morphology	390594	KBTBD13	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	4703	NEB	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	10324	KLHL41	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	7170	TPM3	ORPHA:171439
HP:0009121	Abnormal axial skeleton morphology	2010	EMD	ORPHA:98863
HP:0009121	Abnormal axial skeleton morphology	29954	POMT2	ORPHA:206559
HP:0009121	Abnormal axial skeleton morphology	23676	SMPX	OMIM:301075
HP:0009121	Abnormal axial skeleton morphology	56652	TWNK	OMIM:607459
HP:0009121	Abnormal axial skeleton morphology	7043	TGFB3	OMIM:615582
HP:0009121	Abnormal axial skeleton morphology	10801	SEPTIN9	ORPHA:2901
HP:0009121	Abnormal axial skeleton morphology	7227	TRPS1	OMIM:190350
HP:0009121	Abnormal axial skeleton morphology	23224	SYNE2	OMIM:612999
HP:0009121	Abnormal axial skeleton morphology	23224	SYNE2	ORPHA:98853
HP:0009121	Abnormal axial skeleton morphology	23534	TNPO3	OMIM:608423
HP:0009121	Abnormal axial skeleton morphology	79188	TMEM43	ORPHA:98853
HP:0009121	Abnormal axial skeleton morphology	23345	SYNE1	ORPHA:98853
HP:0009121	Abnormal axial skeleton morphology	203859	ANO5	ORPHA:206549
HP:0009121	Abnormal axial skeleton morphology	3166	HMX1	OMIM:612109
HP:0009121	Abnormal axial skeleton morphology	55733	HHAT	ORPHA:1422
HP:0009121	Abnormal axial skeleton morphology	5934	RBL2	OMIM:619690
HP:0009121	Abnormal axial skeleton morphology	1436	CSF1R	OMIM:618476
HP:0009121	Abnormal axial skeleton morphology	3930	LBR	OMIM:215140
HP:0009121	Abnormal axial skeleton morphology	3930	LBR	ORPHA:1426
HP:0009121	Abnormal axial skeleton morphology	9321	TRIP11	OMIM:200600
HP:0009121	Abnormal axial skeleton morphology	6905	TBCE	OMIM:244460
HP:0009121	Abnormal axial skeleton morphology	6905	TBCE	ORPHA:93324
HP:0009121	Abnormal axial skeleton morphology	10484	SEC23A	ORPHA:50814
HP:0009121	Abnormal axial skeleton morphology	4000	LMNA	ORPHA:1662
HP:0009121	Abnormal axial skeleton morphology	10269	ZMPSTE24	ORPHA:1662
HP:0009121	Abnormal axial skeleton morphology	2132	EXT2	ORPHA:52022
HP:0009121	Abnormal axial skeleton morphology	51317	PHF21A	ORPHA:52022
HP:0009121	Abnormal axial skeleton morphology	10013	HDAC6	OMIM:300863
HP:0009121	Abnormal axial skeleton morphology	79796	ALG9	OMIM:263210
HP:0009121	Abnormal axial skeleton morphology	202018	TAPT1	OMIM:616897
HP:0009121	Abnormal axial skeleton morphology	4352	MPL	ORPHA:3319
HP:0009121	Abnormal axial skeleton morphology	7066	THPO	ORPHA:3319
HP:0009121	Abnormal axial skeleton morphology	860	RUNX2	ORPHA:1452
HP:0009121	Abnormal axial skeleton morphology	84168	ANTXR1	ORPHA:2067
HP:0009121	Abnormal axial skeleton morphology	4853	NOTCH2	ORPHA:955
HP:0009121	Abnormal axial skeleton morphology	60386	SLC25A19	ORPHA:99742
HP:0009121	Abnormal axial skeleton morphology	63901	FAM111A	ORPHA:93325
HP:0009121	Abnormal axial skeleton morphology	63901	FAM111A	OMIM:602361
HP:0009121	Abnormal axial skeleton morphology	64175	P3H1	OMIM:610915
HP:0009121	Abnormal axial skeleton morphology	3192	HNRNPU	ORPHA:238769
HP:0009121	Abnormal axial skeleton morphology	79600	TCTN1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	79848	CSPP1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	51684	SUFU	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	65250	CPLANE1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	65250	CPLANE1	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	91147	TMEM67	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	91147	TMEM67	ORPHA:1454
HP:0009121	Abnormal axial skeleton morphology	200894	ARL13B	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	9731	CEP104	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	219844	HYLS1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	23247	KATNIP	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	219854	TMEM218	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	9786	KIAA0586	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	79867	TCTN2	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	80776	B9D2	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	10464	PIBF1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	80210	ARMC9	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	23116	TOGARAM1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	25776	CBY1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	27077	B9D1	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	403	ARL3	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	65062	TMEM237	ORPHA:475
HP:0009121	Abnormal axial skeleton morphology	65062	TMEM237	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	65062	TMEM237	ORPHA:220497
HP:0009121	Abnormal axial skeleton morphology	6309	SC5D	ORPHA:46059
HP:0009121	Abnormal axial skeleton morphology	5728	PTEN	OMIM:605309
HP:0009121	Abnormal axial skeleton morphology	3265	HRAS	ORPHA:2612
HP:0009121	Abnormal axial skeleton morphology	4893	NRAS	ORPHA:2612
HP:0009121	Abnormal axial skeleton morphology	9326	ZNHIT3	ORPHA:2836
HP:0009121	Abnormal axial skeleton morphology	547	KIF1A	ORPHA:2836
HP:0009121	Abnormal axial skeleton morphology	85378	TUBGCP6	ORPHA:2518
HP:0009121	Abnormal axial skeleton morphology	27229	TUBGCP4	ORPHA:2518
HP:0009121	Abnormal axial skeleton morphology	10733	PLK4	ORPHA:2518
HP:0009121	Abnormal axial skeleton morphology	5604	MAP2K1	ORPHA:1340
HP:0009121	Abnormal axial skeleton morphology	5605	MAP2K2	ORPHA:1340
HP:0009121	Abnormal axial skeleton morphology	673	BRAF	ORPHA:1340
HP:0009121	Abnormal axial skeleton morphology	7518	XRCC4	ORPHA:99812
HP:0009121	Abnormal axial skeleton morphology	3981	LIG4	ORPHA:99812
HP:0009121	Abnormal axial skeleton morphology	10225	CD96	ORPHA:1308
HP:0009121	Abnormal axial skeleton morphology	79583	TMEM231	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	51524	TMEM138	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	23090	ZNF423	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	80184	CEP290	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	51259	TMEM216	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	51259	TMEM216	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	57545	CC2D2A	ORPHA:2318
HP:0009121	Abnormal axial skeleton morphology	57545	CC2D2A	ORPHA:1454
HP:0009121	Abnormal axial skeleton morphology	10210	TOPORS	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	9851	KIAA0753	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	26123	TCTN3	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	5147	PDE6D	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	8481	OFD1	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	317662	FAM149B1	ORPHA:2754
HP:0009121	Abnormal axial skeleton morphology	2626	GATA4	ORPHA:251071
HP:0009121	Abnormal axial skeleton morphology	29123	ANKRD11	ORPHA:261250
HP:0009121	Abnormal axial skeleton morphology	23322	RPGRIP1L	ORPHA:220497
HP:0009121	Abnormal axial skeleton morphology	23322	RPGRIP1L	ORPHA:1454
HP:0009121	Abnormal axial skeleton morphology	4867	NPHP1	ORPHA:220497
HP:0009121	Abnormal axial skeleton morphology	4212	MEIS2	ORPHA:261190
HP:0009121	Abnormal axial skeleton morphology	8450	CUL4B	ORPHA:85293
HP:0009121	Abnormal axial skeleton morphology	1717	DHCR7	ORPHA:818
HP:0009121	Abnormal axial skeleton morphology	57192	MCOLN1	ORPHA:578
HP:0009121	Abnormal axial skeleton morphology	8092	ALX1	ORPHA:306542
HP:0009121	Abnormal axial skeleton morphology	5290	PIK3CA	OMIM:612918
HP:0009121	Abnormal axial skeleton morphology	4125	MAN2B1	ORPHA:309282
HP:0009121	Abnormal axial skeleton morphology	50964	SOST	ORPHA:3416
HP:0009121	Abnormal axial skeleton morphology	4982	TNFRSF11B	ORPHA:2801
HP:0009121	Abnormal axial skeleton morphology	8792	TNFRSF11A	ORPHA:2801
HP:0009121	Abnormal axial skeleton morphology	9791	PTDSS1	ORPHA:2658
HP:0009121	Abnormal axial skeleton morphology	56172	ANKH	OMIM:123000
HP:0009121	Abnormal axial skeleton morphology	57187	THOC2	ORPHA:457240
HP:0009121	Abnormal axial skeleton morphology	760	CA2	OMIM:259730
HP:0009121	Abnormal axial skeleton morphology	8600	TNFSF11	OMIM:259710
HP:0009121	Abnormal axial skeleton morphology	2697	GJA1	ORPHA:2710
HP:0009121	Abnormal axial skeleton morphology	28962	OSTM1	OMIM:259720
HP:0009121	Abnormal axial skeleton morphology	7840	ALMS1	ORPHA:64
HP:0009121	Abnormal axial skeleton morphology	7840	ALMS1	OMIM:203800
HP:0009121	Abnormal axial skeleton morphology	2778	GNAS	ORPHA:79443
HP:0009121	Abnormal axial skeleton morphology	1947	EFNB1	OMIM:304110
HP:0009121	Abnormal axial skeleton morphology	29957	SLC25A24	ORPHA:2095
HP:0009121	Abnormal axial skeleton morphology	29957	SLC25A24	OMIM:612289
HP:0009121	Abnormal axial skeleton morphology	5034	P4HB	OMIM:112240
HP:0009121	Abnormal axial skeleton morphology	2961	GTF2E2	OMIM:616943
HP:0009121	Abnormal axial skeleton morphology	147372	CCBE1	OMIM:235510
HP:0009121	Abnormal axial skeleton morphology	1513	CTSK	ORPHA:763
HP:0009121	Abnormal axial skeleton morphology	60529	ALX4	ORPHA:228390
HP:0009121	Abnormal axial skeleton morphology	54928	BPNT2	OMIM:614078
HP:0009121	Abnormal axial skeleton morphology	2260	FGFR1	OMIM:101600
HP:0009121	Abnormal axial skeleton morphology	2260	FGFR1	OMIM:123150
HP:0009121	Abnormal axial skeleton morphology	5422	POLA1	ORPHA:163976
HP:0009121	Abnormal axial skeleton morphology	5977	DPF2	OMIM:618027
HP:0009121	Abnormal axial skeleton morphology	6651	SON	ORPHA:500150
HP:0009121	Abnormal axial skeleton morphology	6938	TCF12	OMIM:615314
HP:0009121	Abnormal axial skeleton morphology	1801	DPH1	OMIM:616901
HP:0009121	Abnormal axial skeleton morphology	1801	DPH1	ORPHA:459061
HP:0009121	Abnormal axial skeleton morphology	1788	DNMT3A	OMIM:615879
HP:0009121	Abnormal axial skeleton morphology	3845	KRAS	OMIM:609942
HP:0009121	Abnormal axial skeleton morphology	526	ATP6V1B2	ORPHA:79500
HP:0009121	Abnormal axial skeleton morphology	57465	TBC1D24	ORPHA:79500
HP:0009121	Abnormal axial skeleton morphology	55764	IFT122	OMIM:218330
HP:0009121	Abnormal axial skeleton morphology	8318	CDC45	OMIM:617063
HP:0009121	Abnormal axial skeleton morphology	112752	IFT43	OMIM:614099
HP:0009121	Abnormal axial skeleton morphology	57728	WDR19	OMIM:614378
HP:0009121	Abnormal axial skeleton morphology	23384	SPECC1L	OMIM:145420
HP:0009121	Abnormal axial skeleton morphology	169792	GLIS3	OMIM:610199
HP:0009121	Abnormal axial skeleton morphology	3190	HNRNPK	ORPHA:453504
HP:0009121	Abnormal axial skeleton morphology	3190	HNRNPK	ORPHA:352665
HP:0009121	Abnormal axial skeleton morphology	9401	RECQL4	OMIM:218600
HP:0009121	Abnormal axial skeleton morphology	2077	ERF	OMIM:600775
HP:0009121	Abnormal axial skeleton morphology	267010	RNU12	OMIM:603116
HP:0009121	Abnormal axial skeleton morphology	652	BMP4	OMIM:607932
HP:0009121	Abnormal axial skeleton morphology	9871	SEC24D	OMIM:616294
HP:0009121	Abnormal axial skeleton morphology	51715	RAB23	OMIM:201000
HP:0009121	Abnormal axial skeleton morphology	3590	IL11RA	OMIM:614188
HP:0009121	Abnormal axial skeleton morphology	51604	PIGT	OMIM:615398
HP:0009121	Abnormal axial skeleton morphology	7545	ZIC1	OMIM:618736
HP:0009121	Abnormal axial skeleton morphology	5648	MASP1	OMIM:257920
HP:0009121	Abnormal axial skeleton morphology	5447	POR	OMIM:207410
HP:0009121	Abnormal axial skeleton morphology	2263	FGFR2	OMIM:207410
HP:0009121	Abnormal axial skeleton morphology	2263	FGFR2	OMIM:101400
HP:0009121	Abnormal axial skeleton morphology	2263	FGFR2	OMIM:123500
HP:0009121	Abnormal axial skeleton morphology	2263	FGFR2	OMIM:101200
HP:0009121	Abnormal axial skeleton morphology	7291	TWIST1	OMIM:101400
HP:0009121	Abnormal axial skeleton morphology	2688	GH1	OMIM:262400
HP:0009121	Abnormal axial skeleton morphology	4724	NDUFS4	OMIM:252010
HP:0009121	Abnormal axial skeleton morphology	2670	GFAP	OMIM:203450
HP:0009121	Abnormal axial skeleton morphology	2670	GFAP	ORPHA:363717
HP:0009121	Abnormal axial skeleton morphology	6016	RIT1	OMIM:615355
HP:0009121	Abnormal axial skeleton morphology	8239	USP9X	OMIM:300919
HP:0009121	Abnormal axial skeleton morphology	1795	DOCK3	OMIM:618292
HP:0009121	Abnormal axial skeleton morphology	22808	MRAS	OMIM:618499
HP:0009121	Abnormal axial skeleton morphology	55331	ACER3	OMIM:617762
HP:0009121	Abnormal axial skeleton morphology	7067	THRA	OMIM:614450
HP:0009121	Abnormal axial skeleton morphology	9373	PLAA	OMIM:617527
HP:0009121	Abnormal axial skeleton morphology	57194	ATP10A	ORPHA:411515
HP:0009121	Abnormal axial skeleton morphology	6567	SLC16A2	ORPHA:59
HP:0009121	Abnormal axial skeleton morphology	4618	MYF6	ORPHA:169189
HP:0009121	Abnormal axial skeleton morphology	84701	COX4I2	OMIM:612714
HP:0009121	Abnormal axial skeleton morphology	7849	PAX8	OMIM:218700
HP:0009121	Abnormal axial skeleton morphology	7253	TSHR	ORPHA:90673
HP:0009121	Abnormal axial skeleton morphology	183	AGT	OMIM:267430
HP:0009121	Abnormal axial skeleton morphology	5972	REN	OMIM:267430
HP:0009121	Abnormal axial skeleton morphology	185	AGTR1	OMIM:267430
HP:0009121	Abnormal axial skeleton morphology	1636	ACE	OMIM:267430
HP:0009121	Abnormal axial skeleton morphology	8241	RBM10	ORPHA:2886
HP:0009121	Abnormal axial skeleton morphology	7507	XPA	ORPHA:910
HP:0009121	Abnormal axial skeleton morphology	7508	XPC	ORPHA:910
HP:0009121	Abnormal axial skeleton morphology	1643	DDB2	ORPHA:910
HP:0009121	Abnormal axial skeleton morphology	2517	FUCA1	OMIM:230000
HP:0009121	Abnormal axial skeleton morphology	57647	DHX37	OMIM:618731
HP:0009121	Abnormal axial skeleton morphology	59341	TRPV4	ORPHA:93314
HP:0009121	Abnormal axial skeleton morphology	2720	GLB1	ORPHA:79255
HP:0009121	Abnormal axial skeleton morphology	79158	GNPTAB	OMIM:252500
HP:0009121	Abnormal axial skeleton morphology	4763	NF1	ORPHA:97685
HP:0009121	Abnormal axial skeleton morphology	7415	VCP	ORPHA:329475
HP:0009121	Abnormal axial skeleton morphology	2137	EXTL3	ORPHA:508533
HP:0009121	Abnormal axial skeleton morphology	51025	PAM16	OMIM:613320
HP:0009121	Abnormal axial skeleton morphology	2261	FGFR3	OMIM:187600
HP:0009121	Abnormal axial skeleton morphology	2261	FGFR3	OMIM:100800
HP:0009121	Abnormal axial skeleton morphology	3636	INPPL1	OMIM:258480
HP:0009121	Abnormal axial skeleton morphology	5130	PCYT1A	OMIM:608940
HP:0009121	Abnormal axial skeleton morphology	4041	LRP5	OMIM:259770
HP:0009121	Abnormal axial skeleton morphology	1280	COL2A1	OMIM:151210
HP:0009121	Abnormal axial skeleton morphology	4322	MMP13	OMIM:602111
HP:0009121	Abnormal axial skeleton morphology	4322	MMP13	ORPHA:93356
HP:0009121	Abnormal axial skeleton morphology	1311	COMP	ORPHA:750
HP:0009121	Abnormal axial skeleton morphology	1311	COMP	OMIM:177170
HP:0009121	Abnormal axial skeleton morphology	4882	NPR2	OMIM:602875
HP:0009121	Abnormal axial skeleton morphology	4882	NPR2	ORPHA:40
HP:0009121	Abnormal axial skeleton morphology	60561	RINT1	OMIM:618641
HP:0009121	Abnormal axial skeleton morphology	153642	ARSK	OMIM:619698
HP:0009121	Abnormal axial skeleton morphology	89970	RSPRY1	ORPHA:457395
HP:0009121	Abnormal axial skeleton morphology	92344	GORAB	ORPHA:2078
HP:0009121	Abnormal axial skeleton morphology	92344	GORAB	OMIM:231070
HP:0009121	Abnormal axial skeleton morphology	5831	PYCR1	ORPHA:2078
HP:0009121	Abnormal axial skeleton morphology	5593	PRKG2	OMIM:619636
HP:0009121	Abnormal axial skeleton morphology	285590	SH3PXD2B	ORPHA:137834
HP:0009121	Abnormal axial skeleton morphology	138050	HGSNAT	OMIM:252930
HP:0009121	Abnormal axial skeleton morphology	54499	TMCO1	OMIM:213980
HP:0009121	Abnormal axial skeleton morphology	2317	FLNB	OMIM:150250
HP:0009121	Abnormal axial skeleton morphology	5176	SERPINF1	OMIM:613982
HP:0009121	Abnormal axial skeleton morphology	25871	NEPRO	OMIM:618853
HP:0009121	Abnormal axial skeleton morphology	9820	CUL7	ORPHA:2616
HP:0009121	Abnormal axial skeleton morphology	9820	CUL7	OMIM:273750
HP:0009121	Abnormal axial skeleton morphology	23363	OBSL1	ORPHA:2616
HP:0009121	Abnormal axial skeleton morphology	83987	CCDC8	ORPHA:2616
HP:0009121	Abnormal axial skeleton morphology	83987	CCDC8	OMIM:614205
HP:0009121	Abnormal axial skeleton morphology	83737	ITCH	OMIM:613385
HP:0009121	Abnormal axial skeleton morphology	2733	GLE1	OMIM:253310
HP:0009121	Abnormal axial skeleton morphology	2535	FZD2	OMIM:164745
HP:0009121	Abnormal axial skeleton morphology	633	BGN	OMIM:300106
HP:0009121	Abnormal axial skeleton morphology	1758	DMP1	ORPHA:289176
HP:0009121	Abnormal axial skeleton morphology	5167	ENPP1	ORPHA:289176
HP:0009121	Abnormal axial skeleton morphology	1186	CLCN7	OMIM:611490
HP:0009121	Abnormal axial skeleton morphology	8838	CCN6	OMIM:208230
HP:0009121	Abnormal axial skeleton morphology	55603	TENT5A	OMIM:617952
HP:0009121	Abnormal axial skeleton morphology	875	CBS	OMIM:236200
HP:0009121	Abnormal axial skeleton morphology	4509	MT-ATP8	ORPHA:480
HP:0009121	Abnormal axial skeleton morphology	4567	MT-TL1	ORPHA:480
HP:0009121	Abnormal axial skeleton morphology	50484	RRM2B	ORPHA:480
HP:0009121	Abnormal axial skeleton morphology	51199	NIN	OMIM:614851
HP:0009121	Abnormal axial skeleton morphology	51199	NIN	ORPHA:319675
HP:0009121	Abnormal axial skeleton morphology	3373	HYAL1	OMIM:601492
HP:0009121	Abnormal axial skeleton morphology	3764	KCNJ8	ORPHA:1517
HP:0009121	Abnormal axial skeleton morphology	10060	ABCC9	ORPHA:1517
HP:0009121	Abnormal axial skeleton morphology	10060	ABCC9	OMIM:239850
HP:0009121	Abnormal axial skeleton morphology	8022	LHX3	ORPHA:226307
HP:0009121	Abnormal axial skeleton morphology	9215	LARGE1	ORPHA:370968
HP:0009121	Abnormal axial skeleton morphology	10585	POMT1	ORPHA:370968
HP:0009121	Abnormal axial skeleton morphology	7443	VRK1	OMIM:607596
HP:0009121	Abnormal axial skeleton morphology	79644	SRD5A3	ORPHA:324737
HP:0009121	Abnormal axial skeleton morphology	26281	FGF20	ORPHA:1848
HP:0009121	Abnormal axial skeleton morphology	2674	GFRA1	ORPHA:1848
HP:0009121	Abnormal axial skeleton morphology	7484	WNT9B	ORPHA:1848
HP:0009121	Abnormal axial skeleton morphology	80000	GREB1L	ORPHA:1848
HP:0009121	Abnormal axial skeleton morphology	51002	TPRKB	ORPHA:2065
HP:0009121	Abnormal axial skeleton morphology	84942	WDR73	ORPHA:2065
HP:0009121	Abnormal axial skeleton morphology	10785	WDR4	ORPHA:2065
HP:0009121	Abnormal axial skeleton morphology	55746	NUP133	ORPHA:2065
HP:0009121	Abnormal axial skeleton morphology	8270	LAGE3	ORPHA:2065
HP:0009121	Abnormal axial skeleton morphology	755	CFAP410	OMIM:602271
HP:0009121	Abnormal axial skeleton morphology	1909	EDNRA	OMIM:616367
HP:0009121	Abnormal axial skeleton morphology	7280	TUBB2A	OMIM:615763
HP:0009121	Abnormal axial skeleton morphology	9365	KL	OMIM:617994
HP:0009121	Abnormal axial skeleton morphology	1509	CTSD	OMIM:610127
HP:0009121	Abnormal axial skeleton morphology	6228	RPS23	OMIM:617412
HP:0009121	Abnormal axial skeleton morphology	6872	TAF1	OMIM:300966
HP:0009121	Abnormal axial skeleton morphology	253959	RALGAPA1	OMIM:618797
HP:0009121	Abnormal axial skeleton morphology	23067	SETD1B	OMIM:619000
HP:0009121	Abnormal axial skeleton morphology	55784	MCTP2	ORPHA:1596
HP:0009121	Abnormal axial skeleton morphology	10559	SLC35A1	OMIM:603585
HP:0009121	Abnormal axial skeleton morphology	259266	ASPM	OMIM:608716
HP:0009121	Abnormal axial skeleton morphology	3832	KIF11	OMIM:152950
HP:0009121	Abnormal axial skeleton morphology	124512	METTL23	OMIM:615942
HP:0009121	Abnormal axial skeleton morphology	6323	SCN1A	OMIM:607208
HP:0009121	Abnormal axial skeleton morphology	84706	GPT2	OMIM:616281
HP:0009121	Abnormal axial skeleton morphology	3376	IARS1	OMIM:617093
HP:0009121	Abnormal axial skeleton morphology	79876	UBA5	OMIM:617132
HP:0009121	Abnormal axial skeleton morphology	340533	NEXMIF	OMIM:300912
HP:0009121	Abnormal axial skeleton morphology	55823	VPS11	OMIM:616683
HP:0009121	Abnormal axial skeleton morphology	6873	TAF2	OMIM:615599
HP:0009121	Abnormal axial skeleton morphology	6873	TAF2	ORPHA:397951
HP:0009121	Abnormal axial skeleton morphology	83700	JAM3	OMIM:613730
HP:0009121	Abnormal axial skeleton morphology	53616	ADAM22	OMIM:617933
HP:0009121	Abnormal axial skeleton morphology	81570	CLPB	OMIM:619835
HP:0009121	Abnormal axial skeleton morphology	6571	SLC18A2	ORPHA:352649
HP:0009121	Abnormal axial skeleton morphology	6792	CDKL5	ORPHA:3095
HP:0009121	Abnormal axial skeleton morphology	22854	NTNG1	ORPHA:3095
HP:0009121	Abnormal axial skeleton morphology	51112	TRAPPC12	ORPHA:500144
HP:0009121	Abnormal axial skeleton morphology	55610	VPS50	OMIM:619685
HP:0009121	Abnormal axial skeleton morphology	126328	NDUFA11	OMIM:618236
HP:0009121	Abnormal axial skeleton morphology	51506	UFC1	OMIM:618076
HP:0009121	Abnormal axial skeleton morphology	477	ATP1A2	OMIM:619605
HP:0009121	Abnormal axial skeleton morphology	84520	GON7	OMIM:619603
HP:0009121	Abnormal axial skeleton morphology	2561	GABRB2	OMIM:617829
HP:0009121	Abnormal axial skeleton morphology	55768	NGLY1	ORPHA:404454
HP:0009121	Abnormal axial skeleton morphology	271	AMPD2	OMIM:615809
HP:0009121	Abnormal axial skeleton morphology	79693	YRDC	OMIM:619609
HP:0009121	Abnormal axial skeleton morphology	4948	OCA2	ORPHA:98794
HP:0009121	Abnormal axial skeleton morphology	83696	TRAPPC9	OMIM:613192
HP:0009121	Abnormal axial skeleton morphology	22796	COG2	OMIM:617395
HP:0009121	Abnormal axial skeleton morphology	22796	COG2	ORPHA:435934
HP:0009121	Abnormal axial skeleton morphology	112939	NACC1	OMIM:617393
HP:0009121	Abnormal axial skeleton morphology	55572	FOXRED1	OMIM:618241
HP:0009121	Abnormal axial skeleton morphology	7343	UBTF	OMIM:617672
HP:0009121	Abnormal axial skeleton morphology	9512	PMPCB	OMIM:617954
HP:0009121	Abnormal axial skeleton morphology	5119	CHMP1A	OMIM:614961
HP:0009121	Abnormal axial skeleton morphology	9692	PRORP	OMIM:619737
HP:0009121	Abnormal axial skeleton morphology	4915	NTRK2	OMIM:617830
HP:0009121	Abnormal axial skeleton morphology	8560	DEGS1	OMIM:618404
HP:0009121	Abnormal axial skeleton morphology	54675	CRLS1	OMIM:620167
HP:0009121	Abnormal axial skeleton morphology	22845	DOLK	OMIM:610768
HP:0009121	Abnormal axial skeleton morphology	8604	SLC25A12	OMIM:612949
HP:0009121	Abnormal axial skeleton morphology	10087	CERT1	OMIM:616351
HP:0009121	Abnormal axial skeleton morphology	774	CACNA1B	OMIM:618497
HP:0009121	Abnormal axial skeleton morphology	51651	PTRH2	ORPHA:456312
HP:0009121	Abnormal axial skeleton morphology	51651	PTRH2	OMIM:616263
HP:0009121	Abnormal axial skeleton morphology	22884	WDR37	OMIM:618652
HP:0009121	Abnormal axial skeleton morphology	2903	GRIN2A	ORPHA:289266
HP:0009121	Abnormal axial skeleton morphology	2257	FGF12	OMIM:617166
HP:0009121	Abnormal axial skeleton morphology	1641	DCX	ORPHA:2148
HP:0009121	Abnormal axial skeleton morphology	128637	TBC1D20	OMIM:615663
HP:0009121	Abnormal axial skeleton morphology	6304	SATB1	OMIM:619229
HP:0009121	Abnormal axial skeleton morphology	11212	PLPBP	OMIM:617290
HP:0009121	Abnormal axial skeleton morphology	339983	NAT8L	OMIM:614063
HP:0009121	Abnormal axial skeleton morphology	51501	HIKESHI	OMIM:616881
HP:0009121	Abnormal axial skeleton morphology	57468	SLC12A5	OMIM:616645
HP:0009121	Abnormal axial skeleton morphology	1213	CLTC	OMIM:617854
HP:0009121	Abnormal axial skeleton morphology	22931	RAB18	OMIM:614222
HP:0009121	Abnormal axial skeleton morphology	64857	PLEKHG2	OMIM:616763
HP:0009121	Abnormal axial skeleton morphology	79751	SLC25A22	OMIM:609304
HP:0009121	Abnormal axial skeleton morphology	1917	EEF1A2	OMIM:616409
HP:0009121	Abnormal axial skeleton morphology	10236	HNRNPR	OMIM:620073
HP:0009121	Abnormal axial skeleton morphology	8818	DPM2	OMIM:615042
HP:0009121	Abnormal axial skeleton morphology	3800	KIF5C	OMIM:615282
HP:0009121	Abnormal axial skeleton morphology	56947	MFF	ORPHA:485421
HP:0009121	Abnormal axial skeleton morphology	56947	MFF	OMIM:617086
HP:0009121	Abnormal axial skeleton morphology	539	ATP5PO	OMIM:620359
HP:0009121	Abnormal axial skeleton morphology	9440	MED17	OMIM:613668
HP:0009121	Abnormal axial skeleton morphology	25973	PARS2	OMIM:618437
HP:0009121	Abnormal axial skeleton morphology	2558	GABRA5	OMIM:618559
HP:0009121	Abnormal axial skeleton morphology	6925	TCF4	OMIM:610954
HP:0009121	Abnormal axial skeleton morphology	1759	DNM1	OMIM:620352
HP:0009121	Abnormal axial skeleton morphology	8813	DPM1	OMIM:608799
HP:0009121	Abnormal axial skeleton morphology	8813	DPM1	ORPHA:79322
HP:0009121	Abnormal axial skeleton morphology	5538	PPT1	OMIM:256730
HP:0009121	Abnormal axial skeleton morphology	125988	MICOS13	OMIM:618329
HP:0009121	Abnormal axial skeleton morphology	55275	VPS53	OMIM:615851
HP:0009121	Abnormal axial skeleton morphology	1719	DHFR	OMIM:613839
HP:0009121	Abnormal axial skeleton morphology	6509	SLC1A4	ORPHA:447997
HP:0009121	Abnormal axial skeleton morphology	10079	ATP9A	OMIM:620242
HP:0009121	Abnormal axial skeleton morphology	205327	C2orf69	OMIM:619423
HP:0009121	Abnormal axial skeleton morphology	79587	CARS2	OMIM:616672
HP:0009121	Abnormal axial skeleton morphology	51693	TRAPPC2L	OMIM:618331
HP:0009121	Abnormal axial skeleton morphology	221927	BRAT1	OMIM:618056
HP:0009121	Abnormal axial skeleton morphology	57017	COQ9	OMIM:614654
HP:0009121	Abnormal axial skeleton morphology	27429	HTRA2	OMIM:617248
HP:0009121	Abnormal axial skeleton morphology	3329	HSPD1	OMIM:612233
HP:0009121	Abnormal axial skeleton morphology	55770	EXOC2	OMIM:619306
HP:0009121	Abnormal axial skeleton morphology	2744	GLS	OMIM:618339
HP:0009121	Abnormal axial skeleton morphology	158	ADSL	OMIM:103050
HP:0009121	Abnormal axial skeleton morphology	158	ADSL	ORPHA:46
HP:0009121	Abnormal axial skeleton morphology	2290	FOXG1	ORPHA:261144
HP:0009121	Abnormal axial skeleton morphology	79776	ZFHX4	ORPHA:91411
HP:0009121	Abnormal axial skeleton morphology	3767	KCNJ11	ORPHA:79134
HP:0009121	Abnormal axial skeleton morphology	3767	KCNJ11	ORPHA:99885
HP:0009121	Abnormal axial skeleton morphology	3767	KCNJ11	OMIM:618856
HP:0009121	Abnormal axial skeleton morphology	79731	NARS2	ORPHA:79134
HP:0009121	Abnormal axial skeleton morphology	6833	ABCC8	ORPHA:79134
HP:0009121	Abnormal axial skeleton morphology	6833	ABCC8	ORPHA:99885
HP:0009121	Abnormal axial skeleton morphology	2645	GCK	ORPHA:99885
HP:0009121	Abnormal axial skeleton morphology	3651	PDX1	ORPHA:99885
HP:0009121	Abnormal axial skeleton morphology	3630	INS	ORPHA:99885
HP:0009121	Abnormal axial skeleton morphology	4131	MAP1B	OMIM:618918
HP:0009121	Abnormal axial skeleton morphology	2073	ERCC5	ORPHA:1466
HP:0009121	Abnormal axial skeleton morphology	84081	NSRP1	OMIM:620001
HP:0009121	Abnormal axial skeleton morphology	92949	ADAMTSL1	ORPHA:521445
HP:0009121	Abnormal axial skeleton morphology	58499	ZNF462	OMIM:618619
HP:0009121	Abnormal axial skeleton morphology	3835	KIF22	ORPHA:93360
HP:0009121	Abnormal axial skeleton morphology	116931	MED12L	OMIM:618872
HP:0009121	Abnormal axial skeleton morphology	23219	FBXO28	OMIM:619777
HP:0009121	Abnormal axial skeleton morphology	29893	PSMC3IP	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	171568	POLR3H	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	2516	NR5A1	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	125150	ZSWIM7	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	9210	BMP15	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	57122	NUP107	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	23514	SPIDR	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	2492	FSHR	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	56945	MRPS22	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	646	BNC1	ORPHA:243
HP:0009121	Abnormal axial skeleton morphology	5626	PROP1	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	5626	PROP1	ORPHA:90695
HP:0009121	Abnormal axial skeleton morphology	89884	LHX4	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	3170	FOXA2	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	5449	POU1F1	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	8820	HESX1	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	5015	OTX2	ORPHA:95494
HP:0009121	Abnormal axial skeleton morphology	6658	SOX3	ORPHA:90695
HP:0009121	Abnormal axial skeleton morphology	57167	SALL4	ORPHA:233
HP:0009121	Abnormal axial skeleton morphology	9935	MAFB	ORPHA:233
HP:0009121	Abnormal axial skeleton morphology	1123	CHN1	ORPHA:233
HP:0009121	Abnormal axial skeleton morphology	9573	GDF3	ORPHA:2345
HP:0009121	Abnormal axial skeleton morphology	392255	GDF6	ORPHA:2345
HP:0009121	Abnormal axial skeleton morphology	392255	GDF6	OMIM:118100
HP:0009121	Abnormal axial skeleton morphology	4222	MEOX1	ORPHA:2345
HP:0009121	Abnormal axial skeleton morphology	2245	FGD1	ORPHA:915
HP:0009121	Abnormal axial skeleton morphology	81839	VANGL1	ORPHA:3027
HP:0009121	Abnormal axial skeleton morphology	80199	FUZ	ORPHA:3027
HP:0009121	Abnormal axial skeleton morphology	3081	HGD	ORPHA:56
HP:0009121	Abnormal axial skeleton morphology	4907	NT5E	OMIM:211800
HP:0009121	Abnormal axial skeleton morphology	1297	COL9A1	OMIM:614135
HP:0009121	Abnormal axial skeleton morphology	6660	SOX5	ORPHA:313892
HP:0009121	Abnormal axial skeleton morphology	83932	SPRTN	OMIM:616200
HP:0009121	Abnormal axial skeleton morphology	579	NKX3-2	OMIM:613330
HP:0009121	Abnormal axial skeleton morphology	1674	DES	ORPHA:98909
HP:0009121	Abnormal axial skeleton morphology	55699	IARS2	ORPHA:436174
HP:0009121	Abnormal axial skeleton morphology	57211	ADGRG6	OMIM:616503
HP:0009121	Abnormal axial skeleton morphology	29920	PYCR2	ORPHA:481152
HP:0009121	Abnormal axial skeleton morphology	6329	SCN4A	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	1134	CHRNA1	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	4038	LRP4	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	1305	COL13A1	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	1140	CHRNB1	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	1144	CHRND	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	1145	CHRNE	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	4593	MUSK	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	5913	RAPSN	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	375790	AGRN	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	221264	AK9	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	285489	DOK7	ORPHA:98913
HP:0009121	Abnormal axial skeleton morphology	5351	PLOD1	ORPHA:1900
HP:0009121	Abnormal axial skeleton morphology	64802	NMNAT1	OMIM:619260
HP:0009121	Abnormal axial skeleton morphology	5832	ALDH18A1	OMIM:616603
HP:0009121	Abnormal axial skeleton morphology	10312	TCIRG1	ORPHA:210110
HP:0009121	Abnormal axial skeleton morphology	9842	PLEKHM1	ORPHA:210110
HP:0009121	Abnormal axial skeleton morphology	22943	DKK1	ORPHA:268882
HP:0009121	Abnormal axial skeleton morphology	5331	PLCB3	OMIM:618961
HP:0009121	Abnormal axial skeleton morphology	79879	CCDC134	OMIM:619795
HP:0009121	Abnormal axial skeleton morphology	4148	MATN3	ORPHA:93311
HP:0009121	Abnormal axial skeleton morphology	23516	SLC39A14	OMIM:144755
HP:0009121	Abnormal axial skeleton morphology	6916	TBXAS1	OMIM:231095
HP:0009121	Abnormal axial skeleton morphology	64840	PORCN	OMIM:305600
HP:0009121	Abnormal axial skeleton morphology	657	BMPR1A	ORPHA:79076
HP:0009121	Abnormal axial skeleton morphology	168667	BMPER	OMIM:608022
HP:0009121	Abnormal axial skeleton morphology	10682	EBP	ORPHA:35173
HP:0009121	Abnormal axial skeleton morphology	9896	FIG4	OMIM:216340
HP:0009121	Abnormal axial skeleton morphology	9896	FIG4	ORPHA:3472
HP:0009121	Abnormal axial skeleton morphology	6662	SOX9	OMIM:114290
HP:0009121	Abnormal axial skeleton morphology	55697	VAC14	ORPHA:3472
HP:0009121	Abnormal axial skeleton morphology	23594	ORC6	OMIM:613803
HP:0009121	Abnormal axial skeleton morphology	4998	ORC1	OMIM:224690
HP:0009121	Abnormal axial skeleton morphology	4010	LMX1B	OMIM:161200
HP:0009121	Abnormal axial skeleton morphology	26175	LYSET	OMIM:619345
HP:0009121	Abnormal axial skeleton morphology	91179	SCARF2	OMIM:600920
HP:0009121	Abnormal axial skeleton morphology	54808	DYM	ORPHA:239
HP:0009121	Abnormal axial skeleton morphology	10861	SLC26A1	OMIM:620372
HP:0009121	Abnormal axial skeleton morphology	55780	ERMARD	ORPHA:75857
HP:0009121	Abnormal axial skeleton morphology	4297	KMT2A	ORPHA:319182
HP:0009121	Abnormal axial skeleton morphology	80144	FRAS1	OMIM:219000
HP:0009121	Abnormal axial skeleton morphology	257	ALX3	OMIM:136760
HP:0009121	Abnormal axial skeleton morphology	727676	SNORD118	ORPHA:542310
HP:0009121	Abnormal axial skeleton morphology	79628	SH3TC2	ORPHA:99949
HP:0009121	Abnormal axial skeleton morphology	4773	NFATC2	OMIM:620232
HP:0009121	Abnormal axial skeleton morphology	6347	CCL2	OMIM:182940
HP:0009121	Abnormal axial skeleton morphology	1593	CYP27A1	ORPHA:909
HP:0009121	Abnormal axial skeleton morphology	5396	PRRX1	OMIM:202650
HP:0009121	Abnormal axial skeleton morphology	5396	PRRX1	ORPHA:990
HP:0009121	Abnormal axial skeleton morphology	2735	GLI1	ORPHA:289
HP:0009121	Abnormal axial skeleton morphology	81887	LAS1L	ORPHA:3459
HP:0009121	Abnormal axial skeleton morphology	286053	NSMCE2	ORPHA:436182
HP:0009121	Abnormal axial skeleton morphology	51594	NBAS	OMIM:614800
HP:0009121	Abnormal axial skeleton morphology	5184	PEPD	ORPHA:742
HP:0009121	Abnormal axial skeleton morphology	246329	STAC3	ORPHA:168572
HP:0009121	Abnormal axial skeleton morphology	9775	EIF4A3	OMIM:268305
HP:0009121	Abnormal axial skeleton morphology	1290	COL5A2	ORPHA:287
HP:0009121	Abnormal axial skeleton morphology	30011	SH3KBP1	OMIM:300310
HP:0009121	Abnormal axial skeleton morphology	5880	RAC2	OMIM:618986
HP:0009121	Abnormal axial skeleton morphology	987	LRBA	OMIM:614700
HP:0009121	Abnormal axial skeleton morphology	9094	UNC119	OMIM:615518
HP:0009121	Abnormal axial skeleton morphology	6813	STXBP2	OMIM:613101
HP:0009121	Abnormal axial skeleton morphology	50615	IL21R	OMIM:615207
HP:0009121	Abnormal axial skeleton morphology	85452	CFAP74	OMIM:620197
HP:0009121	Abnormal axial skeleton morphology	8382	NME5	OMIM:620032
HP:0009121	Abnormal axial skeleton morphology	84061	MAGT1	OMIM:300853
HP:0009121	Abnormal axial skeleton morphology	10625	IVNS1ABP	OMIM:618969
HP:0009121	Abnormal axial skeleton morphology	4194	MDM4	OMIM:618849
HP:0009121	Abnormal axial skeleton morphology	3551	IKBKB	OMIM:618204
HP:0009121	Abnormal axial skeleton morphology	23765	IL17RA	OMIM:613953
HP:0009121	Abnormal axial skeleton morphology	81704	DOCK8	OMIM:243700
HP:0009121	Abnormal axial skeleton morphology	81704	DOCK8	ORPHA:217390
HP:0009121	Abnormal axial skeleton morphology	721	C4B	OMIM:614379
HP:0009121	Abnormal axial skeleton morphology	6688	SPI1	OMIM:619707
HP:0009121	Abnormal axial skeleton morphology	2214	FCGR3A	OMIM:615707
HP:0009121	Abnormal axial skeleton morphology	85016	CFAP300	OMIM:618063
HP:0009121	Abnormal axial skeleton morphology	85016	CFAP300	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	2212	FCGR2A	OMIM:219700
HP:0009121	Abnormal axial skeleton morphology	83538	ODAD4	OMIM:617092
HP:0009121	Abnormal axial skeleton morphology	83538	ODAD4	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	92749	DRC1	OMIM:615294
HP:0009121	Abnormal axial skeleton morphology	92749	DRC1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	1770	DNAH9	OMIM:618300
HP:0009121	Abnormal axial skeleton morphology	1770	DNAH9	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	83861	RSPH3	OMIM:616481
HP:0009121	Abnormal axial skeleton morphology	83861	RSPH3	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	6103	RPGR	OMIM:300455
HP:0009121	Abnormal axial skeleton morphology	6103	RPGR	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	64446	DNAI2	OMIM:612444
HP:0009121	Abnormal axial skeleton morphology	64446	DNAI2	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	6890	TAP1	OMIM:604571
HP:0009121	Abnormal axial skeleton morphology	6891	TAP2	OMIM:604571
HP:0009121	Abnormal axial skeleton morphology	6892	TAPBP	OMIM:604571
HP:0009121	Abnormal axial skeleton morphology	54440	SASH3	OMIM:301082
HP:0009121	Abnormal axial skeleton morphology	3514	IGKC	ORPHA:183675
HP:0009121	Abnormal axial skeleton morphology	3501	IGHG2	ORPHA:183675
HP:0009121	Abnormal axial skeleton morphology	25981	DNAH1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	115948	ODAD3	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	115948	ODAD3	OMIM:616037
HP:0009121	Abnormal axial skeleton morphology	54768	HYDIN	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	27148	STK36	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	54970	TTC12	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	152110	NEK10	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	2302	FOXJ1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	2302	FOXJ1	OMIM:618699
HP:0009121	Abnormal axial skeleton morphology	221421	RSPH9	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	221421	RSPH9	OMIM:612650
HP:0009121	Abnormal axial skeleton morphology	85478	CCDC65	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	85478	CCDC65	OMIM:615504
HP:0009121	Abnormal axial skeleton morphology	55036	CCDC40	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	55036	CCDC40	OMIM:613808
HP:0009121	Abnormal axial skeleton morphology	51364	ZMYND10	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	6674	SPAG1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	83544	DNAL1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	83544	DNAL1	OMIM:614017
HP:0009121	Abnormal axial skeleton morphology	89765	RSPH1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	200373	CFAP221	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	374407	DNAJB13	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	55172	DNAAF2	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	55172	DNAAF2	OMIM:612518
HP:0009121	Abnormal axial skeleton morphology	2622	GAS8	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	23639	DNAAF11	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	345895	RSPH4A	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	54919	DNAAF5	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	388389	CCDC103	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	388389	CCDC103	OMIM:614679
HP:0009121	Abnormal axial skeleton morphology	93233	ODAD1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	55130	ODAD2	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	1767	DNAH5	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	345643	MCIDAS	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	56683	CFAP298	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	79925	SPEF2	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	10309	CCNO	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	115399	LRRC56	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	139212	DNAAF6	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	123872	DNAAF1	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	339829	CCDC39	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	339829	CCDC39	OMIM:613807
HP:0009121	Abnormal axial skeleton morphology	8701	DNAH11	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	246176	GAS2L2	ORPHA:244
HP:0009121	Abnormal axial skeleton morphology	146845	CFAP52	OMIM:619607
HP:0009121	Abnormal axial skeleton morphology	25790	CFAP45	OMIM:619608
HP:0009121	Abnormal axial skeleton morphology	2890	GRIA1	OMIM:619927
HP:0009121	Abnormal axial skeleton morphology	1024	CDK8	OMIM:618748
HP:0009121	Abnormal axial skeleton morphology	51124	IER3IP1	OMIM:614231
HP:0009121	Abnormal axial skeleton morphology	9918	NCAPD2	OMIM:617983
HP:0009121	Abnormal axial skeleton morphology	27185	DISC1	ORPHA:171703
HP:0009121	Abnormal axial skeleton morphology	8320	EOMES	ORPHA:171703
HP:0009121	Abnormal axial skeleton morphology	10015	PDCD6IP	OMIM:620047
HP:0009121	Abnormal axial skeleton morphology	6045	RNF2	OMIM:619460
HP:0009121	Abnormal axial skeleton morphology	79023	NUP37	OMIM:618179
HP:0009121	Abnormal axial skeleton morphology	4905	NSF	OMIM:619340
HP:0009121	Abnormal axial skeleton morphology	5283	PIGH	OMIM:618010
HP:0009121	Abnormal axial skeleton morphology	9181	ARHGEF2	OMIM:617523
HP:0009121	Abnormal axial skeleton morphology	30813	VSX1	OMIM:614195
HP:0009121	Abnormal axial skeleton morphology	25914	RTTN	ORPHA:468631
HP:0009121	Abnormal axial skeleton morphology	55719	SLF2	OMIM:620184
HP:0009121	Abnormal axial skeleton morphology	4617	MYF5	OMIM:618155
HP:0009121	Abnormal axial skeleton morphology	23230	VPS13A	ORPHA:2388
HP:0009121	Abnormal axial skeleton morphology	79753	SNIP1	OMIM:614501
HP:0009121	Abnormal axial skeleton morphology	22827	PUF60	ORPHA:508498
HP:0009121	Abnormal axial skeleton morphology	8567	MADD	OMIM:619004
HP:0009121	Abnormal axial skeleton morphology	50940	PDE11A	ORPHA:1359
HP:0009121	Abnormal axial skeleton morphology	6628	SNRPB	OMIM:117650
HP:0009121	Abnormal axial skeleton morphology	3110	MNX1	ORPHA:1552
HP:0009121	Abnormal axial skeleton morphology	26040	SETBP1	OMIM:269150
HP:0009121	Abnormal axial skeleton morphology	26040	SETBP1	ORPHA:798
HP:0009121	Abnormal axial skeleton morphology	64324	NSD1	ORPHA:821
HP:0009121	Abnormal axial skeleton morphology	29072	SETD2	ORPHA:821
HP:0009121	Abnormal axial skeleton morphology	10297	APC2	ORPHA:821
HP:0009121	Abnormal axial skeleton morphology	6452	SH3BP2	OMIM:118400
HP:0009121	Abnormal axial skeleton morphology	23102	TBC1D2B	OMIM:619323
HP:0009121	Abnormal axial skeleton morphology	51256	TBC1D7	OMIM:248000
HP:0009121	Abnormal axial skeleton morphology	1272	CNTN1	OMIM:612540
HP:0009121	Abnormal axial skeleton morphology	3572	IL6ST	OMIM:618523
HP:0009121	Abnormal axial skeleton morphology	55681	SCYL2	ORPHA:1143
HP:0009121	Abnormal axial skeleton morphology	84570	COL25A1	ORPHA:1143
HP:0009121	Abnormal axial skeleton morphology	57222	ERGIC1	ORPHA:1143
HP:0009121	Abnormal axial skeleton morphology	5824	PEX19	OMIM:614886
HP:0009121	Abnormal axial skeleton morphology	55553	SOX6	OMIM:618971
HP:0009121	Abnormal axial skeleton morphology	10293	TRAIP	OMIM:616777
HP:0009121	Abnormal axial skeleton morphology	55753	OGDHL	OMIM:619701
HP:0009121	Abnormal axial skeleton morphology	3762	KCNJ5	ORPHA:37553
HP:0009121	Abnormal axial skeleton morphology	165	AEBP1	OMIM:618000
HP:0009121	Abnormal axial skeleton morphology	1278	COL1A2	ORPHA:230851
HP:0009121	Abnormal axial skeleton morphology	8496	PPFIBP1	OMIM:620024
HP:0009121	Abnormal axial skeleton morphology	8651	SOCS1	OMIM:619375
HP:0009121	Abnormal axial skeleton morphology	117581	TWIST2	OMIM:200110
HP:0009121	Abnormal axial skeleton morphology	4361	MRE11	ORPHA:251347
HP:0009121	Abnormal axial skeleton morphology	129685	TAF8	OMIM:619972
HP:0009121	Abnormal axial skeleton morphology	8738	CRADD	OMIM:614499
HP:0009121	Abnormal axial skeleton morphology	2581	GALC	ORPHA:206436
HP:0009121	Abnormal axial skeleton morphology	5660	PSAP	ORPHA:206436
HP:0009121	Abnormal axial skeleton morphology	23309	SIN3B	ORPHA:500166
HP:0009121	Abnormal axial skeleton morphology	57589	RIC1	OMIM:618761
HP:0009121	Abnormal axial skeleton morphology	387119	CEP85L	OMIM:618873
HP:0009121	Abnormal axial skeleton morphology	55280	CWF19L1	ORPHA:453521
HP:0009121	Abnormal axial skeleton morphology	55280	CWF19L1	OMIM:616127
HP:0009121	Abnormal axial skeleton morphology	6389	SDHA	ORPHA:3208
HP:0009121	Abnormal axial skeleton morphology	644096	SDHAF1	ORPHA:3208
HP:0009121	Abnormal axial skeleton morphology	26137	ZBTB20	OMIM:259050
HP:0009121	Abnormal axial skeleton morphology	2316	FLNA	OMIM:300048
HP:0009121	Abnormal axial skeleton morphology	111	ADCY5	OMIM:606703
HP:0009121	Abnormal axial skeleton morphology	27235	COQ2	ORPHA:227510
HP:0009121	Abnormal axial skeleton morphology	27235	COQ2	ORPHA:98933
HP:0009121	Abnormal axial skeleton morphology	10463	SLC30A9	OMIM:617595
HP:0009121	Abnormal axial skeleton morphology	27238	GPKOW	ORPHA:2570
HP:0009121	Abnormal axial skeleton morphology	6237	RRAS	ORPHA:648
HP:0009121	Abnormal axial skeleton morphology	6655	SOS2	ORPHA:648
HP:0009121	Abnormal axial skeleton morphology	5922	RASA2	ORPHA:648
HP:0009121	Abnormal axial skeleton morphology	2313	FLI1	ORPHA:370348
HP:0009121	Abnormal axial skeleton morphology	11160	ERLIN2	ORPHA:209951
HP:0009121	Abnormal axial skeleton morphology	11160	ERLIN2	ORPHA:280384
HP:0009121	Abnormal axial skeleton morphology	4914	NTRK1	ORPHA:642
HP:0009121	Abnormal axial skeleton morphology	6399	TRAPPC2	ORPHA:93284
HP:0009121	Abnormal axial skeleton morphology	7132	TNFRSF1A	ORPHA:32960
HP:0009121	Abnormal axial skeleton morphology	7994	KAT6A	OMIM:616268
HP:0009121	Abnormal axial skeleton morphology	7703	PCGF2	OMIM:618371
HP:0009121	Abnormal axial skeleton morphology	27152	INTU	OMIM:617925
HP:0009121	Abnormal axial skeleton morphology	5566	PRKACA	OMIM:619142
HP:0009121	Abnormal axial skeleton morphology	5567	PRKACB	OMIM:619143
HP:0009121	Abnormal axial skeleton morphology	8260	NAA10	ORPHA:568
HP:0009121	Abnormal axial skeleton morphology	54880	BCOR	ORPHA:568
HP:0009121	Abnormal axial skeleton morphology	79705	LRRK1	OMIM:615198
HP:0009121	Abnormal axial skeleton morphology	92255	LMBRD2	OMIM:619694
HP:0009121	Abnormal axial skeleton morphology	93587	TRMT10A	ORPHA:391408
HP:0009121	Abnormal axial skeleton morphology	79577	CDC73	ORPHA:143
HP:0009121	Abnormal axial skeleton morphology	79577	CDC73	ORPHA:99880
HP:0009121	Abnormal axial skeleton morphology	63916	ELMO2	OMIM:606893
HP:0009121	Abnormal axial skeleton morphology	1499	CTNNB1	ORPHA:54595
HP:0009121	Abnormal axial skeleton morphology	80232	WDR26	ORPHA:513456
HP:0009121	Abnormal axial skeleton morphology	80232	WDR26	OMIM:617616
HP:0009121	Abnormal axial skeleton morphology	1173	AP2M1	OMIM:618587
HP:0009121	Abnormal axial skeleton morphology	27107	ZBTB11	OMIM:618383
HP:0009121	Abnormal axial skeleton morphology	55084	SOBP	OMIM:613671
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2737	GLI3	ORPHA:672
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57190	SELENON	ORPHA:324604
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4625	MYH7	ORPHA:324604
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7273	TTN	ORPHA:324604
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55906	ZC4H2	OMIM:301041
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6134	RPL10	OMIM:300998
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6134	RPL10	ORPHA:459070
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	286053	NSMCE2	OMIM:617253
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9871	SEC24D	OMIM:616294
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	374654	KIF7	OMIM:200990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79868	ALG13	OMIM:300884
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5649	RELN	ORPHA:89844
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10300	KATNB1	ORPHA:89844
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54820	NDE1	ORPHA:89844
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55790	CSGALNACT1	OMIM:618870
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84068	SLC10A7	OMIM:618363
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	113189	CHST14	ORPHA:2953
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	113189	CHST14	OMIM:601776
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29940	DSE	ORPHA:2953
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9692	PRORP	OMIM:619737
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7994	KAT6A	ORPHA:457193
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7994	KAT6A	OMIM:616268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	90993	CREB3L1	OMIM:616229
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9325	TRIP4	OMIM:616866
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1717	DHCR7	OMIM:270400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54968	TMEM70	OMIM:614052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1501	CTNND2	ORPHA:281
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9037	SEMA5A	ORPHA:281
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23327	NEDD4L	OMIM:617201
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23545	ATP6V0A2	OMIM:278250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9419	CRIPT	OMIM:615789
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25942	SIN3A	OMIM:613406
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	59336	PRDM13	OMIM:619909
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10526	IPO8	OMIM:619472
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23443	SLC35A3	OMIM:615553
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9894	TELO2	ORPHA:488642
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79770	TXNDC15	OMIM:619879
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25914	RTTN	ORPHA:468631
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55165	CEP55	OMIM:236500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79796	ALG9	ORPHA:79328
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23556	PIGN	ORPHA:280633
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2571	GAD1	OMIM:619124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6872	TAF1	OMIM:300966
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55617	TASP1	OMIM:618950
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51305	KCNK9	OMIM:612292
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5075	PAX1	OMIM:615560
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8481	OFD1	OMIM:311200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60482	SLC5A7	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4649	MYO9A	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1305	COL13A1	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1103	CHAT	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6576	SLC25A1	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6843	VAMP1	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	375790	AGRN	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	127833	SYT2	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6572	SLC18A3	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6616	SNAP25	ORPHA:98914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	100506658	OCLN	OMIM:251290
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55717	WDR11	OMIM:620237
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	124583	CANT1	OMIM:251450
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7846	TUBA1A	ORPHA:171680
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	342035	GLDN	OMIM:617194
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8565	YARS1	OMIM:619418
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8815	BANF1	OMIM:614008
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51082	POLR1D	OMIM:613717
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	11133	KPTN	ORPHA:397612
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9775	EIF4A3	OMIM:268305
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26173	INTS1	OMIM:618571
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1718	DHCR24	OMIM:602398
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1718	DHCR24	ORPHA:35107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4897	NRCAM	OMIM:619833
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1134	CHRNA1	OMIM:608930
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1134	CHRNA1	OMIM:253290
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55209	SETD5	ORPHA:404440
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55209	SETD5	OMIM:615761
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5932	RBBP8	OMIM:606744
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5932	RBBP8	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2073	ERCC5	OMIM:616570
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2073	ERCC5	ORPHA:1466
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80816	ASXL3	OMIM:615485
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1855	DVL1	OMIM:616331
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1855	DVL1	OMIM:180700
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1855	DVL1	ORPHA:3107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27245	AHDC1	ORPHA:412069
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27245	AHDC1	OMIM:615829
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23426	GRIP1	OMIM:617667
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5184	PEPD	OMIM:170100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5184	PEPD	ORPHA:742
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10084	PQBP1	ORPHA:93946
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10084	PQBP1	OMIM:309500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57082	KNL1	OMIM:604321
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	284403	WDR62	OMIM:604317
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55154	MSTO1	OMIM:617675
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55154	MSTO1	ORPHA:502423
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54453	RIN2	OMIM:613075
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1020	CDK5	OMIM:616342
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79029	AFG2B	OMIM:619616
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64359	NXN	OMIM:618529
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64359	NXN	ORPHA:1507
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9968	MED12	ORPHA:93932
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9968	MED12	ORPHA:776
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9968	MED12	OMIM:309520
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9968	MED12	OMIM:305450
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9968	MED12	OMIM:300895
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55681	SCYL2	OMIM:618766
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55681	SCYL2	ORPHA:1143
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4604	MYBPC1	OMIM:618524
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5191	PEX7	OMIM:215100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2697	GJA1	ORPHA:2710
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2697	GJA1	OMIM:257850
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9401	RECQL4	OMIM:218600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9401	RECQL4	OMIM:268400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9401	RECQL4	ORPHA:1225
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	171023	ASXL1	ORPHA:97297
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	171023	ASXL1	OMIM:605039
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	89910	UBE3B	ORPHA:2707
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	89910	UBE3B	OMIM:244450
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26038	CHD5	OMIM:619873
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5034	P4HB	OMIM:112240
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5034	P4HB	ORPHA:2050
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6905	TBCE	OMIM:241410
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6905	TBCE	ORPHA:2323
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1909	EDNRA	OMIM:616367
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9091	PIGQ	OMIM:618548
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55210	ATAD3A	ORPHA:496790
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55210	ATAD3A	OMIM:617183
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55210	ATAD3A	OMIM:618810
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8818	DPM2	OMIM:615042
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8818	DPM2	ORPHA:329178
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4285	MIPEP	OMIM:617228
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	163175	LGI4	OMIM:617468
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79971	WLS	OMIM:619648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23483	TGDS	OMIM:616145
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23483	TGDS	ORPHA:1388
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84168	ANTXR1	OMIM:230740
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84168	ANTXR1	ORPHA:2067
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64919	BCL11B	OMIM:617237
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6885	MAP3K7	ORPHA:1826
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	641	BLM	ORPHA:125
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6135	RPL11	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6138	RPL15	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6229	RPS24	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6125	RPL5	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6125	RPL5	OMIM:612561
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6204	RPS10	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6224	RPS20	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6165	RPL35A	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2623	GATA1	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6232	RPS27	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6231	RPS26	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6231	RPS26	OMIM:613309
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	11224	RPL35	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6160	RPL31	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6218	RPS17	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6201	RPS7	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6155	RPL27	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6154	RPL26	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6210	RPS15A	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	90121	TSR2	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	90121	TSR2	OMIM:300946
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6141	RPL18	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6235	RPS29	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6234	RPS28	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6234	RPS28	OMIM:606164
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51816	ADA2	ORPHA:124
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25970	SH2B1	ORPHA:261197
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1387	CREBBP	OMIM:618332
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1387	CREBBP	OMIM:180849
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1387	CREBBP	ORPHA:353277
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2033	EP300	OMIM:618333
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2033	EP300	OMIM:613684
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2033	EP300	ORPHA:353284
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2033	EP300	OMIM:180849
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5881	RAC3	OMIM:618577
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9427	ECEL1	OMIM:615065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7046	TGFBR1	OMIM:609192
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7046	TGFBR1	ORPHA:60030
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5426	POLE	OMIM:618336
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5081	PAX7	OMIM:618578
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	389827	MYMK	OMIM:254940
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	389827	MYMK	ORPHA:1358
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5813	PURA	ORPHA:314655
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9949	AMMECR1	OMIM:300990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3479	IGF1	ORPHA:73272
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3479	IGF1	OMIM:608747
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9488	PIGB	OMIM:618580
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1281	COL3A1	OMIM:618343
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1281	COL3A1	ORPHA:2500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54517	PUS7	OMIM:618342
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8573	CASK	OMIM:300749
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8573	CASK	ORPHA:163937
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79912	PYROXD1	OMIM:617258
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1798	DPAGT1	OMIM:608093
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57122	NUP107	OMIM:618348
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57122	NUP107	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57122	NUP107	OMIM:616730
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27125	AFF4	ORPHA:444077
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10733	PLK4	OMIM:616171
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10733	PLK4	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2972	BRF1	ORPHA:444072
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91754	NEK9	OMIM:617022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6492	SIM1	ORPHA:171829
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51114	ZDHHC9	ORPHA:776
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	65109	UPF3B	ORPHA:776
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4952	OCRL	ORPHA:534
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29954	POMT2	OMIM:236670
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9215	LARGE1	OMIM:236670
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79147	FKRP	OMIM:236670
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10585	POMT1	OMIM:236670
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2218	FKTN	OMIM:236670
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55777	MBD5	OMIM:156200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5980	REV3L	ORPHA:570
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23129	PLXND1	ORPHA:570
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3039	HBA1	ORPHA:98791
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3040	HBA2	ORPHA:98791
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51132	RLIM	OMIM:300978
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	63925	ZNF335	OMIM:615095
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22930	RAB3GAP1	OMIM:600118
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22930	RAB3GAP1	ORPHA:2510
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22930	RAB3GAP1	ORPHA:1387
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51434	ANAPC7	OMIM:619699
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	92255	LMBRD2	OMIM:619694
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7468	NSD2	OMIM:619695
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7468	NSD2	OMIM:194190
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7468	NSD2	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	201163	FLCN	OMIM:610883
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1312	COMT	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	221037	JMJD1C	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2812	GP1BB	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6239	RREB1	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6899	TBX1	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6899	TBX1	ORPHA:1727
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6899	TBX1	OMIM:188400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7290	HIRA	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9632	SEC24C	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7353	UFD1	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	421	ARVCF	ORPHA:567
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7136	TNNI2	OMIM:601680
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7136	TNNI2	ORPHA:1147
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84314	TMEM107	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84314	TMEM107	OMIM:617562
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79867	TCTN2	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80776	B9D2	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79600	TCTN1	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57096	RPGRIP1	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80184	CEP290	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51259	TMEM216	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51259	TMEM216	ORPHA:2754
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57545	CC2D2A	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91147	TMEM67	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27077	B9D1	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23322	RPGRIP1L	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54903	MKS1	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54903	MKS1	OMIM:249000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	65062	TMEM237	ORPHA:564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3188	HNRNPH2	OMIM:300986
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4613	MYCN	OMIM:164280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4613	MYCN	ORPHA:391641
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4654	MYOD1	ORPHA:994
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4593	MUSK	ORPHA:994
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4593	MUSK	OMIM:208150
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5913	RAPSN	ORPHA:994
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5913	RAPSN	OMIM:618388
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	285489	DOK7	ORPHA:994
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	285489	DOK7	OMIM:618389
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	50801	KCNK4	OMIM:618381
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	134218	DNAJC21	OMIM:617052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57061	HYMAI	ORPHA:96191
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5325	PLAGL1	ORPHA:96191
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	348180	CTU2	OMIM:618142
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80036	TRPM3	OMIM:620224
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10283	CWC27	ORPHA:166035
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10283	CWC27	OMIM:250410
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2887	GRB10	ORPHA:96182
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1457	CSNK2A1	OMIM:617062
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7204	TRIO	OMIM:617061
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7204	TRIO	ORPHA:476126
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2222	FDFT1	OMIM:618156
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	203068	TUBB	OMIM:156610
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	203068	TUBB	ORPHA:2505
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	374879	ZNF699	OMIM:619488
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8567	MADD	OMIM:619005
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55640	FLVCR2	OMIM:225790
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23112	TNRC6B	OMIM:619243
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9373	PLAA	ORPHA:521426
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9373	PLAA	OMIM:617527
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	93587	TRMT10A	ORPHA:391408
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84919	PPP1R15B	ORPHA:391408
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84919	PPP1R15B	OMIM:616817
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	199221	DZIP1L	ORPHA:731
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5314	PKHD1	ORPHA:731
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60386	SLC25A19	OMIM:607196
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60386	SLC25A19	ORPHA:99742
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10436	EMG1	OMIM:211180
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10436	EMG1	ORPHA:1270
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6748	SSR4	OMIM:300934
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84464	SLX4	OMIM:613951
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84464	SLX4	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	219844	HYLS1	OMIM:236680
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	219844	HYLS1	ORPHA:2189
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7474	WNT5A	OMIM:180700
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7474	WNT5A	ORPHA:3107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2801	GOLGA2	OMIM:620240
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	114034	TOE1	ORPHA:284339
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	114034	TOE1	OMIM:614969
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9562	MINPP1	ORPHA:284339
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55181	SMG8	OMIM:619268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51109	RDH11	ORPHA:436245
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51002	TPRKB	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84942	WDR73	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84942	WDR73	OMIM:251300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55644	OSGEP	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55644	OSGEP	OMIM:617729
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10785	WDR4	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55746	NUP133	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	112858	TP53RK	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8270	LAGE3	ORPHA:2065
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8270	LAGE3	OMIM:301006
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8085	KMT2D	OMIM:147920
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8085	KMT2D	OMIM:620186
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7403	KDM6A	OMIM:147920
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7403	KDM6A	OMIM:300867
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8243	SMC1A	OMIM:300590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8243	SMC1A	ORPHA:199
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2294	FOXF1	OMIM:265380
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	324	APC	ORPHA:261584
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6309	SC5D	ORPHA:46059
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6309	SC5D	OMIM:607330
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	161742	SPRED1	OMIM:611431
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	673	BRAF	OMIM:115150
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	673	BRAF	OMIM:163950
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7518	XRCC4	ORPHA:99812
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7518	XRCC4	ORPHA:436182
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3981	LIG4	ORPHA:99812
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3981	LIG4	ORPHA:235
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1303	COL12A1	ORPHA:75840
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1303	COL12A1	ORPHA:536516
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1291	COL6A1	ORPHA:75840
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1292	COL6A2	ORPHA:75840
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1293	COL6A3	ORPHA:75840
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80232	WDR26	ORPHA:513456
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80232	WDR26	OMIM:617616
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2314	FLII	ORPHA:819
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23096	IQSEC2	ORPHA:819
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23096	IQSEC2	ORPHA:397933
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10743	RAI1	ORPHA:819
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10743	RAI1	ORPHA:1713
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10522	DEAF1	ORPHA:819
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5818	NECTIN1	ORPHA:3253
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29072	SETD2	OMIM:620157
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29072	SETD2	OMIM:620155
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10225	CD96	OMIM:211750
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10225	CD96	ORPHA:1308
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26153	KIF26A	OMIM:620156
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9382	COG1	OMIM:611209
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9382	COG1	ORPHA:263508
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1763	DNA2	OMIM:615807
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25778	DSTYK	OMIM:270750
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84992	PIGY	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84720	PIGO	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	93210	PGAP3	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	284098	PIGW	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27315	PGAP2	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55650	PIGV	ORPHA:247262
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23522	KAT6B	OMIM:606170
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23522	KAT6B	ORPHA:85201
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23522	KAT6B	OMIM:603736
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23522	KAT6B	ORPHA:3047
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1801	DPH1	OMIM:616901
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1801	DPH1	ORPHA:459061
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	672	BRCA1	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10459	MAD2L2	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7516	XRCC2	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29089	UBE2T	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	675	BRCA2	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2177	FANCD2	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2175	FANCA	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2176	FANCC	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2178	FANCE	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2188	FANCF	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2189	FANCG	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5888	RAD51	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5889	RAD51C	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55159	RFWD3	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	83990	BRIP1	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57697	FANCM	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79728	PALB2	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2072	ERCC4	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55215	FANCI	ORPHA:84
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9184	BUB3	ORPHA:1052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	699	BUB1	ORPHA:1052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9702	CEP57	ORPHA:1052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9702	CEP57	OMIM:614114
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9319	TRIP13	ORPHA:1052
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23036	ZNF292	OMIM:619188
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23314	SATB2	OMIM:612313
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23314	SATB2	ORPHA:576283
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23314	SATB2	ORPHA:251028
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23314	SATB2	ORPHA:251019
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55636	CHD7	OMIM:214800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3756	KCNH1	ORPHA:3473
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3782	KCNN3	ORPHA:3473
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	53834	FGFRL1	OMIM:194190
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1487	CTBP1	OMIM:194190
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1487	CTBP1	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3954	LETM1	OMIM:194190
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3954	LETM1	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3954	LETM1	OMIM:620089
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10815	CPLX1	OMIM:194190
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10815	CPLX1	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	165	AEBP1	ORPHA:536532
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	165	AEBP1	OMIM:618000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3192	HNRNPU	ORPHA:238769
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26053	AUTS2	OMIM:615834
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26053	AUTS2	ORPHA:352490
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79753	SNIP1	OMIM:614501
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3211	HOXB1	OMIM:614744
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54499	TMCO1	OMIM:213980
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23137	SMC5	OMIM:620185
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10907	TXNL4A	OMIM:608572
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79759	ZNF668	OMIM:620194
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57459	GATAD2B	ORPHA:363686
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6473	SHOX	OMIM:249700
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6473	SHOX	ORPHA:314795
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	81887	LAS1L	ORPHA:3459
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55869	HDAC8	ORPHA:3459
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55869	HDAC8	ORPHA:199
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55869	HDAC8	OMIM:300882
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23261	CAMTA1	OMIM:614756
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10472	ZBTB18	OMIM:612337
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10472	ZBTB18	ORPHA:36367
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2255	FGF10	ORPHA:2363
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2535	FZD2	OMIM:164745
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2535	FZD2	ORPHA:3107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2535	FZD2	ORPHA:93328
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8813	DPM1	OMIM:608799
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8813	DPM1	ORPHA:79322
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8242	KDM5C	OMIM:300534
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6949	TCOF1	OMIM:154500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6949	TCOF1	ORPHA:861
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	546	ATRX	OMIM:309580
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55275	VPS53	OMIM:615851
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7048	TGFBR2	OMIM:610168
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7048	TGFBR2	ORPHA:60030
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1062	CENPE	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1062	CENPE	OMIM:616051
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79902	NUP85	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84126	ATRIP	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10293	TRAIP	ORPHA:808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10293	TRAIP	OMIM:616777
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80324	PUS1	ORPHA:2598
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80324	PUS1	OMIM:600462
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51067	YARS2	ORPHA:2598
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64324	NSD1	ORPHA:3447
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8726	EED	ORPHA:3447
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23512	SUZ12	ORPHA:3447
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	28962	OSTM1	OMIM:259720
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79228	THOC6	OMIM:613680
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2303	FOXC2	OMIM:153400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7407	VARS1	OMIM:617802
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	196528	ARID2	OMIM:617808
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8216	LZTR1	OMIM:605275
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8216	LZTR1	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	56052	ALG1	OMIM:608540
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10075	HUWE1	OMIM:309590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10159	ATP6AP2	OMIM:301045
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91949	COG7	OMIM:608779
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91949	COG7	ORPHA:79333
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10735	STAG2	OMIM:301043
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10735	STAG2	OMIM:301022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27238	GPKOW	ORPHA:2570
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22856	CHSY1	ORPHA:363417
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2733	GLE1	ORPHA:1486
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2733	GLE1	OMIM:253310
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2733	GLE1	OMIM:611890
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79650	USB1	OMIM:604173
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4854	NOTCH3	OMIM:130720
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4854	NOTCH3	ORPHA:2789
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84162	BLTP1	OMIM:617822
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23291	FBXW11	OMIM:618914
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10982	MAPRE2	OMIM:616734
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10982	MAPRE2	ORPHA:2505
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2067	ERCC1	ORPHA:1466
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2067	ERCC1	OMIM:610758
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2074	ERCC6	ORPHA:1466
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2074	ERCC6	OMIM:214150
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57211	ADGRG6	OMIM:616503
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5723	PSPH	ORPHA:79350
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6638	SNRPN	ORPHA:177907
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9343	EFTUD2	ORPHA:79113
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9343	EFTUD2	OMIM:610536
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84172	POLR1B	OMIM:618939
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84172	POLR1B	ORPHA:861
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	760	CA2	ORPHA:2785
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23476	BRD4	ORPHA:199
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9126	SMC3	ORPHA:199
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9126	SMC3	OMIM:610759
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5885	RAD21	ORPHA:199
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	157680	VPS13B	ORPHA:193
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	157680	VPS13B	OMIM:216550
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9150	CTDP1	ORPHA:48431
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1859	DYRK1A	OMIM:614104
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	117581	TWIST2	OMIM:209885
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9935	MAFB	ORPHA:2774
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9935	MAFB	ORPHA:233
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9935	MAFB	OMIM:166300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5297	PI4KA	OMIM:616531
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5297	PI4KA	ORPHA:98889
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5297	PI4KA	OMIM:619708
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	113246	C12orf57	OMIM:218340
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84700	MYO18B	OMIM:616549
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4621	MYH3	ORPHA:2990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4621	MYH3	ORPHA:1147
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1146	CHRNG	ORPHA:2990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1146	CHRNG	OMIM:265000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1146	CHRNG	OMIM:253290
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9939	RBM8A	OMIM:274000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9939	RBM8A	ORPHA:3320
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25782	RAB3GAP2	ORPHA:2510
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25782	RAB3GAP2	OMIM:212720
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25782	RAB3GAP2	ORPHA:1387
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22931	RAB18	ORPHA:2510
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22931	RAB18	OMIM:614222
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	128637	TBC1D20	ORPHA:2510
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	71	ACTG1	ORPHA:2995
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10210	TOPORS	ORPHA:2754
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9851	KIAA0753	ORPHA:2754
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5147	PDE6D	ORPHA:2754
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	317662	FAM149B1	ORPHA:2754
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55553	SOX6	OMIM:618971
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1806	DPYD	ORPHA:293948
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4281	MID1	ORPHA:2745
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8398	PLA2G6	OMIM:256600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	246329	STAC3	OMIM:255995
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	246329	STAC3	ORPHA:168572
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1278	COL1A2	ORPHA:1899
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1278	COL1A2	OMIM:259420
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1277	COL1A1	ORPHA:1899
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1277	COL1A1	OMIM:259420
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3762	KCNJ5	ORPHA:37553
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7528	YY1	ORPHA:506358
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7528	YY1	OMIM:617557
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23141	ANKLE2	OMIM:616681
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8294	H4C9	OMIM:619951
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	83932	SPRTN	OMIM:616200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8425	LTBP4	OMIM:613177
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5830	PEX5	OMIM:214110
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5830	PEX5	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64220	STRA6	OMIM:601186
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3020	H3-3A	OMIM:619720
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1723	DHODH	OMIM:263750
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1723	DHODH	ORPHA:246
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	72	ACTG2	ORPHA:2604
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2201	FBN2	OMIM:121050
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	129563	DIS3L2	ORPHA:2849
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	129563	DIS3L2	OMIM:267000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4286	MITF	OMIM:617306
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5189	PEX1	OMIM:214100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5189	PEX1	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	716	C1S	ORPHA:75392
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	715	C1R	ORPHA:75392
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25885	POLR1A	OMIM:616462
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10381	TUBB3	ORPHA:300570
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2626	GATA4	ORPHA:251071
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7020	TFAP2A	OMIM:113620
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	652	BMP4	OMIM:607932
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54872	PIGG	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7469	NELFA	ORPHA:280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22872	SEC31A	OMIM:618651
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4763	NF1	ORPHA:363700
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5424	POLD1	OMIM:615381
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57498	KIDINS220	OMIM:619501
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4174	MCM5	OMIM:617564
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57178	ZMIZ1	OMIM:618659
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2783	GNB2	OMIM:619503
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1123	CHN1	ORPHA:233
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1789	DNMT3B	OMIM:242860
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1789	DNMT3B	ORPHA:2268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54888	NSUN2	ORPHA:235
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	63895	PIEZO2	OMIM:114300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	63895	PIEZO2	OMIM:248700
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	63895	PIEZO2	ORPHA:2461
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54914	FOCAD	OMIM:619991
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	286	ANK1	ORPHA:251066
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2248	FGF3	OMIM:610706
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2248	FGF3	ORPHA:90024
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54928	BPNT2	OMIM:614078
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	53335	BCL11A	OMIM:617101
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9928	KIF14	OMIM:616258
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2542	SLC37A4	OMIM:619525
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2556	GABRA3	OMIM:301091
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4626	MYH8	OMIM:158300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57724	EPG5	OMIM:242840
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23162	MAPK8IP3	OMIM:618443
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4123	MAN2C1	OMIM:619775
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8218	CLTCL1	ORPHA:453510
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23219	FBXO28	OMIM:619777
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9496	TBX4	OMIM:147891
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8295	TRRAP	OMIM:618454
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	81570	CLPB	OMIM:616271
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3763	KCNJ6	OMIM:614098
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3763	KCNJ6	ORPHA:435628
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9533	POLR1C	OMIM:248390
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9533	POLR1C	ORPHA:861
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29968	PSAT1	OMIM:616038
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29968	PSAT1	ORPHA:284417
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	58497	PRUNE1	ORPHA:544469
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5062	PAK2	OMIM:618458
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54892	NCAPG2	OMIM:618460
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8506	CNTNAP1	OMIM:616286
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8506	CNTNAP1	OMIM:618186
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29998	BICRA	OMIM:619325
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23030	KDM4B	OMIM:619320
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1363	CPE	OMIM:619326
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1289	COL5A1	OMIM:619329
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6904	TBCD	ORPHA:496641
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6904	TBCD	OMIM:617193
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	170302	ARX	ORPHA:452
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	170302	ARX	OMIM:300215
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23221	RHOBTB2	OMIM:618004
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10082	GPC6	OMIM:258315
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10082	GPC6	ORPHA:93329
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1147	CHUK	OMIM:619339
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9719	ADAMTSL2	ORPHA:1901
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9509	ADAMTS2	ORPHA:1901
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9509	ADAMTS2	OMIM:225410
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3481	IGF2	OMIM:180860
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3481	IGF2	ORPHA:397590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8091	HMGA2	ORPHA:94063
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8091	HMGA2	ORPHA:397590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23592	LEMD3	ORPHA:94063
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26276	VPS33B	OMIM:208085
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	372	ARCN1	OMIM:617164
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3977	LIFR	OMIM:601559
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5277	PIGA	OMIM:300868
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23384	SPECC1L	OMIM:145420
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9244	CRLF1	OMIM:272430
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9244	CRLF1	ORPHA:1545
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80347	COASY	OMIM:618266
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5281	PIGF	OMIM:619356
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51604	PIGT	ORPHA:369837
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	145173	B3GLCT	OMIM:261540
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	145173	B3GLCT	ORPHA:709
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5530	PPP3CA	OMIM:618265
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5530	PPP3CA	OMIM:617711
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2132	EXT2	ORPHA:52022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51317	PHF21A	ORPHA:52022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23405	DICER1	OMIM:618272
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	285590	SH3PXD2B	OMIM:249420
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51715	RAB23	OMIM:201000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29123	ANKRD11	ORPHA:261250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10220	GDF11	OMIM:619122
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	90416	CCDC32	OMIM:619123
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5080	PAX6	ORPHA:893
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	627	BDNF	ORPHA:893
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7490	WT1	ORPHA:893
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84905	ZNF341	OMIM:618282
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57020	VPS35L	OMIM:619135
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1984	EIF5A	OMIM:619376
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5236	PGM1	OMIM:614921
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3295	HSD17B4	OMIM:261515
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	867	CBL	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6016	RIT1	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6237	RRAS	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5894	RAF1	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22808	MRAS	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3845	KRAS	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	200734	SPRED2	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4893	NRAS	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6654	SOS1	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6655	SOS2	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5922	RASA2	ORPHA:648
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23299	BICD2	OMIM:618291
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	871	SERPINH1	OMIM:613848
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3480	IGF1R	OMIM:270450
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2690	GHR	ORPHA:633
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	121340	SP7	OMIM:613849
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	83483	PLVAP	OMIM:618183
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10128	LRPPRC	OMIM:220111
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	199857	ALG14	OMIM:619036
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	775	CACNA1C	OMIM:620029
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55624	POMGNT1	OMIM:253280
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10274	STAG1	ORPHA:502434
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2629	GBA1	OMIM:608013
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23118	TAB2	ORPHA:228410
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8443	GNPAT	OMIM:222765
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	58	ACTA1	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	58	ACTA1	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	58	ACTA1	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7169	TPM2	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7169	TPM2	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7169	TPM2	ORPHA:1147
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7169	TPM2	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4703	NEB	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4703	NEB	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10324	KLHL41	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10324	KLHL41	OMIM:615731
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10324	KLHL41	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	56203	LMOD3	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1073	CFL2	ORPHA:171436
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22858	CILK1	OMIM:612651
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3899	AFF3	OMIM:619297
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3483	IGFALS	ORPHA:140941
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	283989	TSEN54	ORPHA:166063
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4633	MYL2	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3679	ITGA7	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9200	HACD1	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7170	TPM3	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7170	TPM3	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51776	MAP3K20	ORPHA:2020
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3070	HELLS	ORPHA:2268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	83879	CDCA7	ORPHA:2268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9841	ZBTB24	ORPHA:2268
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3265	HRAS	OMIM:218040
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5826	ABCD4	OMIM:614857
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26227	PHGDH	OMIM:256520
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2615	LRRC32	OMIM:619074
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1857	DVL3	ORPHA:3107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1857	DVL3	OMIM:616894
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5828	PEX2	OMIM:614866
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5828	PEX2	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6804	STX1A	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7461	CLIP2	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84277	DNAJC30	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8468	FKBP6	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5982	RFC2	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2969	GTF2I	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3984	LIMK1	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9569	GTF2IRD1	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	155382	VPS37D	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	155368	METTL27	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	114049	BUD23	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7458	EIF4H	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84163	GTF2IRD2	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9275	BCL7B	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26608	TBL2	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	653361	NCF1	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	135886	TMEM270	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51085	MLXIPL	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9031	BAZ1B	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2006	ELN	ORPHA:904
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10290	SPEG	OMIM:615959
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9289	ADGRG1	ORPHA:98889
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27286	SRPX2	ORPHA:98889
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	157570	ESCO2	ORPHA:3103
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	157570	ESCO2	OMIM:268300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55027	HEATR3	OMIM:620072
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51611	DPH5	OMIM:620070
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5700	PSMC1	OMIM:620071
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	728294	D2HGDH	OMIM:600721
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2138	EYA1	ORPHA:52429
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6495	SIX1	ORPHA:52429
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5159	PDGFRB	OMIM:601812
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5594	MAPK1	OMIM:619087
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1028	CDKN1C	ORPHA:397590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5324	PLAG1	ORPHA:397590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2065	ERBB3	OMIM:607598
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23065	EMC1	ORPHA:480898
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23065	EMC1	OMIM:616875
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5295	PIK3R1	OMIM:269880
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	81031	SLC2A10	OMIM:208050
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7140	TNNT3	ORPHA:1147
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8504	PEX3	OMIM:614882
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8504	PEX3	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84665	MYPN	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	390594	KBTBD13	ORPHA:171439
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	50628	GEMIN4	OMIM:617913
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84570	COL25A1	ORPHA:1143
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57222	ERGIC1	ORPHA:1143
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5195	PEX14	OMIM:614887
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5195	PEX14	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4313	MMP2	OMIM:259600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2702	GJA5	OMIM:612474
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2703	GJA8	OMIM:612474
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1297	COL9A1	ORPHA:250984
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1298	COL9A2	ORPHA:250984
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1299	COL9A3	ORPHA:250984
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84695	LOXL3	ORPHA:250984
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1144	CHRND	OMIM:253290
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55670	PEX26	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5824	PEX19	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8799	PEX11B	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9409	PEX16	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5190	PEX6	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5193	PEX12	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5194	PEX13	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5192	PEX10	ORPHA:912
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4038	LRP4	OMIM:212780
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9780	PIEZO1	OMIM:616843
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4683	NBN	OMIM:251260
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	85358	SHANK3	OMIM:606232
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	113179	ADAT3	ORPHA:363528
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10525	HYOU1	OMIM:233600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55784	MCTP2	ORPHA:1596
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	30008	EFEMP2	OMIM:614437
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91869	RFT1	OMIM:612015
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5915	RARB	OMIM:615524
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5053	PAH	ORPHA:2209
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	101929726	MYMX	ORPHA:1358
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	101929726	MYMX	OMIM:619941
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4204	MECP2	OMIM:300055
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10265	IRX5	OMIM:611174
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5925	RB1	ORPHA:1587
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55603	TENT5A	OMIM:617952
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1063	CENPF	OMIM:243605
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64093	SMOC1	ORPHA:1106
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91647	ATPAF2	OMIM:604273
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5718	PSMD12	ORPHA:529962
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5718	PSMD12	OMIM:617516
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2186	BPTF	ORPHA:529962
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2186	BPTF	OMIM:617755
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84342	COG8	OMIM:611182
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57572	DOCK6	OMIM:614219
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23233	EXOC6B	ORPHA:93359
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29957	SLC25A24	OMIM:612289
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4659	PPP1R12A	OMIM:618820
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91461	PKDCC	OMIM:618821
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	285175	UNC80	ORPHA:371364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8405	SPOP	OMIM:618829
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2767	GNA11	ORPHA:1556
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	151188	ARL6IP6	ORPHA:1556
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	440	ASNS	OMIM:615574
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55023	PHIP	OMIM:617991
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3664	IRF6	ORPHA:1300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4848	CNOT2	OMIM:618608
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23529	CLCF1	ORPHA:1545
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	221927	BRAT1	OMIM:614498
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6736	SRY	ORPHA:1772
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5290	PIK3CA	OMIM:615108
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	207	AKT1	OMIM:615109
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5604	MAP2K1	OMIM:163950
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79659	DYNC2H1	OMIM:613091
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79659	DYNC2H1	ORPHA:93271
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	28981	IFT81	OMIM:617895
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	579	NKX3-2	OMIM:613330
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4750	NEK1	OMIM:263520
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55503	TRPV6	OMIM:618188
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26160	IFT172	OMIM:615630
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6608	SMO	OMIM:241800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55112	DYNC2I1	ORPHA:93271
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55112	DYNC2I1	OMIM:615503
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57560	IFT80	ORPHA:93271
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	89891	DYNC2I2	ORPHA:93271
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	249	ALPL	OMIM:241500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	202018	TAPT1	OMIM:616897
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5331	PLCB3	OMIM:618961
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2121	EVC	OMIM:225500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	132884	EVC2	OMIM:225500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	153241	CEP120	OMIM:616300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7317	UBA1	ORPHA:1145
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2146	EZH2	OMIM:277590
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9820	CUL7	OMIM:273750
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55764	IFT122	OMIM:218330
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79087	ALG12	OMIM:607143
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3549	IHH	OMIM:607778
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9742	IFT140	OMIM:266920
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51025	PAM16	OMIM:613320
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27152	INTU	OMIM:617925
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	255758	DYNLT2B	OMIM:617405
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26005	C2CD3	OMIM:615948
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5727	PTCH1	OMIM:109400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3930	LBR	OMIM:215140
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6657	SOX2	ORPHA:77298
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6628	SNRPB	OMIM:117650
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	65250	CPLANE1	OMIM:277170
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	259232	NALCN	OMIM:616266
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	650	BMP2	OMIM:617877
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	100151683	RNU4ATAC	OMIM:210710
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1861	TOR1A	OMIM:618947
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55835	CENPJ	OMIM:613676
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5557	PRIM1	OMIM:620005
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22800	RRAS2	OMIM:618624
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1788	DNMT3A	OMIM:618724
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8854	ALDH1A2	OMIM:620025
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5590	PRKCZ	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2563	GABRD	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23013	SPEN	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8510	MMP23B	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7798	LUZP1	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6497	SKI	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10630	PDPN	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3339	HSPG2	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10277	UBE4B	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8514	KCNAB2	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	473	RERE	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	63976	PRDM16	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54897	CASZ1	ORPHA:1606
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	526	ATP6V1B2	ORPHA:79500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57465	TBC1D24	ORPHA:79500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6223	RPS19	OMIM:105650
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10236	HNRNPR	OMIM:620073
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	222663	SCUBE3	OMIM:619184
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9469	CHST3	OMIM:245600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26229	B3GAT3	OMIM:245600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4927	NUP88	OMIM:618393
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10847	SRCAP	OMIM:136140
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10847	SRCAP	ORPHA:2044
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10013	HDAC6	OMIM:300863
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23114	NFASC	OMIM:618356
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	11041	B4GAT1	OMIM:615287
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8942	KYNU	OMIM:617661
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	545	ATR	OMIM:210600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	93627	TBCK	ORPHA:488632
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	29980	DONSON	OMIM:617604
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22995	CEP152	OMIM:613823
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2879	GPX4	OMIM:250220
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	126792	B3GALT6	OMIM:271640
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57492	ARID1B	OMIM:135900
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25836	NIPBL	OMIM:122470
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79583	TMEM231	ORPHA:2752
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	701	BUB1B	OMIM:257300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9241	NOG	OMIM:186500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4036	LRP2	OMIM:222448
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7703	PCGF2	OMIM:618371
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2719	GPC3	OMIM:312870
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2239	GPC4	OMIM:312870
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	118924	FRA10AC1	OMIM:620113
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26040	SETBP1	OMIM:269150
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3911	LAMA5	OMIM:620076
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8241	RBM10	ORPHA:2886
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8241	RBM10	OMIM:311900
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54808	DYM	OMIM:223800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54808	DYM	OMIM:607326
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9321	TRIP11	OMIM:200600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	340419	RSPO2	OMIM:618022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	50814	NSDHL	OMIM:308050
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2260	FGFR1	OMIM:166250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1280	COL2A1	ORPHA:85166
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3636	INPPL1	ORPHA:3144
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23169	SLC35D1	ORPHA:3144
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23169	SLC35D1	OMIM:269250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6913	TBX15	ORPHA:93333
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6913	TBX15	OMIM:260660
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	145258	GSC	OMIM:602471
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5447	POR	ORPHA:95699
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9896	FIG4	OMIM:216340
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60	ACTB	ORPHA:79107
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60	ACTB	OMIM:607371
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57539	WDR35	OMIM:614091
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6926	TBX3	OMIM:181450
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	860	RUNX2	OMIM:119600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	860	RUNX2	ORPHA:1452
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	91179	SCARF2	OMIM:600920
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1301	COL11A1	OMIM:228520
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1301	COL11A1	ORPHA:2021
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1301	COL11A1	ORPHA:440354
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54101	RIPK4	OMIM:263650
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2316	FLNA	OMIM:309350
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6662	SOX9	OMIM:114290
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5116	PCNT	OMIM:210720
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1302	COL11A2	ORPHA:2021
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5696	PSMB8	OMIM:256040
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	388015	RTL1	ORPHA:96334
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8788	DLK1	ORPHA:96334
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55384	MEG3	ORPHA:96334
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79158	GNPTAB	OMIM:252500
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	11285	B4GALT7	OMIM:130070
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4488	MSX2	ORPHA:60015
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4488	MSX2	OMIM:168550
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60529	ALX4	ORPHA:60015
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8260	NAA10	OMIM:309800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54880	BCOR	OMIM:309800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1108	CHD4	OMIM:617159
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64131	XYLT1	OMIM:615777
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64131	XYLT1	ORPHA:370930
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2263	FGFR2	ORPHA:313855
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2263	FGFR2	OMIM:614592
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6910	TBX5	OMIM:142900
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	267010	RNU12	OMIM:603116
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51626	DYNC2LI1	OMIM:617088
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	221496	LEMD2	OMIM:619322
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9578	CDC42BPB	OMIM:619841
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3239	HOXD13	OMIM:113300
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79633	FAT4	OMIM:615546
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7291	TWIST1	OMIM:617746
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8642	DCHS1	OMIM:601390
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26224	FBXL3	OMIM:606220
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4920	ROR2	OMIM:268310
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9897	WASHC5	OMIM:220210
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9897	WASHC5	ORPHA:7
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10606	PAICS	OMIM:619859
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	168667	BMPER	ORPHA:66637
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	168667	BMPER	OMIM:608022
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7473	WNT3	ORPHA:3301
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	28952	CCDC22	ORPHA:7
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5781	PTPN11	OMIM:151100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4617	MYF5	OMIM:618155
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	112752	IFT43	OMIM:617866
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6911	TBX6	ORPHA:1797
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6911	TBX6	OMIM:122600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	84667	HES7	OMIM:613686
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2200	FBN1	ORPHA:2462
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2313	FLI1	ORPHA:2308
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	27019	DNAI1	OMIM:244400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4591	TRIM37	OMIM:253250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	257	ALX3	OMIM:136760
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	257	ALX3	ORPHA:391474
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	175	AGA	OMIM:208400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6424	SFRP4	OMIM:265900
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2335	FN1	OMIM:184255
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1311	COMP	ORPHA:750
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1311	COMP	OMIM:177170
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2137	EXTL3	ORPHA:508533
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9361	LONP1	OMIM:600373
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4921	DDR2	OMIM:271665
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	59341	TRPV4	OMIM:184252
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	59341	TRPV4	ORPHA:93314
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	59341	TRPV4	OMIM:156530
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6399	TRAPPC2	ORPHA:93284
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4784	NFIX	OMIM:602535
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2245	FGD1	OMIM:305400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9131	AIFM1	OMIM:300232
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55699	IARS2	OMIM:616007
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2588	GALNS	OMIM:253000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2990	GUSB	OMIM:253220
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6023	RMRP	OMIM:250250
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2317	FLNB	OMIM:272460
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	411	ARSB	OMIM:253200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25839	COG4	OMIM:618150
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25839	COG4	ORPHA:85172
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3955	LFNG	OMIM:609813
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	633	BGN	OMIM:300106
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9451	EIF2AK3	OMIM:226980
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	83452	RAB33B	OMIM:615222
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2720	GLB1	OMIM:253010
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3425	IDUA	OMIM:607014
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3759	KCNJ2	OMIM:170390
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3166	HMX1	OMIM:612109
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	25886	POC1A	OMIM:614813
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55120	FANCL	OMIM:614083
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8626	TP63	OMIM:604292
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	90	ACVR1	OMIM:135100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10736	SIX2	ORPHA:488437
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2517	FUCA1	OMIM:230000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5573	PRKAR1A	ORPHA:280651
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5144	PDE4D	ORPHA:280651
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2261	FGFR3	OMIM:187601
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2261	FGFR3	OMIM:187600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1947	EFNB1	ORPHA:1520
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1947	EFNB1	OMIM:304110
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	64840	PORCN	OMIM:305600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5728	PTEN	ORPHA:79076
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	657	BMPR1A	ORPHA:79076
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55697	VAC14	ORPHA:3472
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4010	LMX1B	OMIM:161200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10262	SF3B4	OMIM:154400
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	538	ATP7A	ORPHA:198
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5745	PTH1R	ORPHA:50945
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1513	CTSK	OMIM:265800
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9791	PTDSS1	ORPHA:2658
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9487	PIGL	ORPHA:3474
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57167	SALL4	ORPHA:2307
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	865	CBFB	OMIM:620099
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4000	LMNA	ORPHA:1662
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4000	LMNA	ORPHA:90153
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10269	ZMPSTE24	ORPHA:1662
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10269	ZMPSTE24	ORPHA:90154
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10651	MTX2	ORPHA:90153
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	79848	CSPP1	ORPHA:397715
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9786	KIAA0586	ORPHA:397715
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	22827	PUF60	ORPHA:508498
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55780	ERMARD	ORPHA:75857
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4297	KMT2A	ORPHA:319182
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80144	FRAS1	OMIM:219000
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	139285	AMER1	OMIM:300373
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23347	SMCHD1	OMIM:603457
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5332	PLCB4	OMIM:614669
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5332	PLCB4	ORPHA:137888
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1906	EDN1	ORPHA:137888
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2773	GNAI3	ORPHA:137888
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2773	GNAI3	OMIM:602483
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	65992	DDRGK1	OMIM:602557
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4990	SIX6	OMIM:206900
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10992	SF3B2	OMIM:164210
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	415	ARSL	ORPHA:79345
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4853	NOTCH2	ORPHA:955
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10682	EBP	ORPHA:35173
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1836	SLC26A2	ORPHA:93307
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1836	SLC26A2	ORPHA:56304
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1836	SLC26A2	OMIM:222600
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1836	SLC26A2	ORPHA:628
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	347734	SLC35B2	OMIM:620269
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23126	POGZ	OMIM:616364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1182	CLCN3	OMIM:619512
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	60561	RINT1	OMIM:618641
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10312	TCIRG1	ORPHA:1782
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	55315	SLC29A3	ORPHA:1782
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8792	TNFRSF11A	ORPHA:1782
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2799	GNS	OMIM:252940
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	11128	POLR3A	ORPHA:3455
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	285362	SUMF1	OMIM:272200
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3110	MNX1	ORPHA:1552
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7476	WNT7A	ORPHA:2879
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	81839	VANGL1	ORPHA:3027
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	80199	FUZ	ORPHA:3027
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	26123	TCTN3	ORPHA:2753
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2131	EXT1	ORPHA:502
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7227	TRPS1	ORPHA:502
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8092	ALX1	ORPHA:306542
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5396	PRRX1	OMIM:202650
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5396	PRRX1	ORPHA:990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5015	OTX2	ORPHA:990
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	81620	CDT1	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5000	ORC4	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23594	ORC6	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8318	CDC45	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	990	CDC6	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4998	ORC1	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	51053	GMNN	ORPHA:2554
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	56975	FAM20C	ORPHA:1832
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	54539	NDUFB11	ORPHA:2556
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1349	COX7B	ORPHA:2556
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	3052	HCCS	ORPHA:2556
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7547	ZIC3	OMIM:306955
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23498	HAAO	OMIM:617660
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57216	VANGL2	OMIM:182940
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6347	CCL2	OMIM:182940
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6862	TBXT	OMIM:182940
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6862	TBXT	OMIM:615709
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4838	NODAL	OMIM:270100
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2187	FANCB	ORPHA:3412
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	404672	GTF2H5	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	833	CARS1	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2068	ERCC2	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7737	RNF113A	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	136647	MPLKIP	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6897	TARS1	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2071	ERCC3	ORPHA:33364
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2961	GTF2E2	ORPHA:33364
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	5116	PCNT	OMIM:210720
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	23556	PIGN	ORPHA:280633
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	103	ADAR	OMIM:127400
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	23328	SASH1	OMIM:127500
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	3852	KRT5	OMIM:131960
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	6611	SMS	ORPHA:3063
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	7319	UBE2A	ORPHA:163956
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	4000	LMNA	ORPHA:79474
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	3861	KRT14	ORPHA:79397
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	3861	KRT14	ORPHA:79399
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	3861	KRT14	ORPHA:79400
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	56983	POGLUT1	ORPHA:79145
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	23509	POFUT1	ORPHA:79145
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	55851	PSENEN	ORPHA:79145
HP:0009124	Abnormal adipose tissue morphology	4000	LMNA	ORPHA:280365
HP:0009124	Abnormal adipose tissue morphology	4000	LMNA	OMIM:248370
HP:0009124	Abnormal adipose tissue morphology	4000	LMNA	OMIM:151660
HP:0009124	Abnormal adipose tissue morphology	63924	CIDEC	ORPHA:435651
HP:0009124	Abnormal adipose tissue morphology	2074	ERCC6	OMIM:133540
HP:0009124	Abnormal adipose tissue morphology	5468	PPARG	ORPHA:79083
HP:0009124	Abnormal adipose tissue morphology	5696	PSMB8	OMIM:256040
HP:0009124	Abnormal adipose tissue morphology	1161	ERCC8	OMIM:216400
HP:0009124	Abnormal adipose tissue morphology	9719	ADAMTSL2	ORPHA:1901
HP:0009124	Abnormal adipose tissue morphology	9509	ADAMTS2	ORPHA:1901
HP:0009124	Abnormal adipose tissue morphology	1278	COL1A2	ORPHA:1899
HP:0009124	Abnormal adipose tissue morphology	1277	COL1A1	ORPHA:1899
HP:0009124	Abnormal adipose tissue morphology	79053	ALG8	ORPHA:79325
HP:0009124	Abnormal adipose tissue morphology	4558	MT-TF	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4567	MT-TL1	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4549	MT-RNR1	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4574	MT-TS1	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4575	MT-TS2	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4571	MT-TP	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4572	MT-TQ	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4540	MT-ND5	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4566	MT-TK	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	4566	MT-TK	ORPHA:1349
HP:0009124	Abnormal adipose tissue morphology	4564	MT-TH	ORPHA:551
HP:0009124	Abnormal adipose tissue morphology	5290	PIK3CA	ORPHA:276280
HP:0009124	Abnormal adipose tissue morphology	4221	MEN1	ORPHA:652
HP:0009124	Abnormal adipose tissue morphology	1027	CDKN1B	ORPHA:652
HP:0009124	Abnormal adipose tissue morphology	1026	CDKN1A	ORPHA:652
HP:0009124	Abnormal adipose tissue morphology	1030	CDKN2B	ORPHA:652
HP:0009124	Abnormal adipose tissue morphology	1031	CDKN2C	ORPHA:652
HP:0009124	Abnormal adipose tissue morphology	55154	MSTO1	OMIM:617675
HP:0009124	Abnormal adipose tissue morphology	161742	SPRED1	OMIM:611431
HP:0009124	Abnormal adipose tissue morphology	161742	SPRED1	ORPHA:137605
HP:0009124	Abnormal adipose tissue morphology	9927	MFN2	ORPHA:2398
HP:0009124	Abnormal adipose tissue morphology	2260	FGFR1	ORPHA:2396
HP:0009124	Abnormal adipose tissue morphology	3845	KRAS	ORPHA:2396
HP:0009124	Abnormal adipose tissue morphology	324	APC	OMIM:175100
HP:0009124	Abnormal adipose tissue morphology	57216	VANGL2	OMIM:182940
HP:0009124	Abnormal adipose tissue morphology	6347	CCL2	OMIM:182940
HP:0009124	Abnormal adipose tissue morphology	81839	VANGL1	OMIM:182940
HP:0009124	Abnormal adipose tissue morphology	6862	TBXT	OMIM:182940
HP:0009124	Abnormal adipose tissue morphology	80199	FUZ	OMIM:182940
HP:0009124	Abnormal adipose tissue morphology	201163	FLCN	ORPHA:122
HP:0009124	Abnormal adipose tissue morphology	201163	FLCN	OMIM:135150
HP:0009124	Abnormal adipose tissue morphology	284252	KCTD1	OMIM:181270
HP:0009124	Abnormal adipose tissue morphology	1175	AP2S1	OMIM:600740
HP:0009124	Abnormal adipose tissue morphology	207	AKT1	OMIM:176920
HP:0009124	Abnormal adipose tissue morphology	2767	GNA11	OMIM:145981
HP:0009124	Abnormal adipose tissue morphology	5167	ENPP1	ORPHA:758
HP:0009124	Abnormal adipose tissue morphology	368	ABCC6	ORPHA:758
HP:0009124	Abnormal adipose tissue morphology	23592	LEMD3	ORPHA:1879
HP:0009124	Abnormal adipose tissue morphology	657	BMPR1A	ORPHA:79076
HP:0009124	Abnormal adipose tissue morphology	5424	POLD1	OMIM:615381
HP:0009124	Abnormal adipose tissue morphology	6497	SKI	OMIM:182212
HP:0009124	Abnormal adipose tissue morphology	8260	NAA10	OMIM:300855
HP:0009124	Abnormal adipose tissue morphology	54345	SOX18	OMIM:137940
HP:0009124	Abnormal adipose tissue morphology	2271	FH	OMIM:606812
HP:0009124	Abnormal adipose tissue morphology	8367	H4C5	OMIM:619950
HP:0009124	Abnormal adipose tissue morphology	3643	INSR	ORPHA:508
HP:0009124	Abnormal adipose tissue morphology	3643	INSR	ORPHA:769
HP:0009124	Abnormal adipose tissue morphology	256297	PTF1A	OMIM:609069
HP:0009124	Abnormal adipose tissue morphology	10555	AGPAT2	OMIM:608594
HP:0009124	Abnormal adipose tissue morphology	221496	LEMD2	OMIM:619322
HP:0009124	Abnormal adipose tissue morphology	6514	SLC2A2	OMIM:227810
HP:0009124	Abnormal adipose tissue morphology	51305	KCNK9	OMIM:612292
HP:0009124	Abnormal adipose tissue morphology	7156	TOP3A	OMIM:618097
HP:0009124	Abnormal adipose tissue morphology	7043	TGFB3	OMIM:615582
HP:0009124	Abnormal adipose tissue morphology	2783	GNB2	OMIM:619503
HP:0009124	Abnormal adipose tissue morphology	3480	IGF1R	OMIM:270450
HP:0009124	Abnormal adipose tissue morphology	8092	ALX1	ORPHA:306542
HP:0009124	Abnormal adipose tissue morphology	5295	PIK3R1	OMIM:269880
HP:0009124	Abnormal adipose tissue morphology	2068	ERCC2	OMIM:601675
HP:0009124	Abnormal adipose tissue morphology	2068	ERCC2	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	5557	PRIM1	OMIM:620005
HP:0009124	Abnormal adipose tissue morphology	404672	GTF2H5	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	833	CARS1	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	7737	RNF113A	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	136647	MPLKIP	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	6897	TARS1	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	2071	ERCC3	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	2961	GTF2E2	ORPHA:33364
HP:0009124	Abnormal adipose tissue morphology	2072	ERCC4	OMIM:610965
HP:0009124	Abnormal adipose tissue morphology	11128	POLR3A	OMIM:264090
HP:0009124	Abnormal adipose tissue morphology	26227	PHGDH	OMIM:256520
HP:0009124	Abnormal adipose tissue morphology	257	ALX3	OMIM:136760
HP:0009124	Abnormal adipose tissue morphology	5373	PMM2	ORPHA:79318
HP:0009124	Abnormal adipose tissue morphology	5373	PMM2	OMIM:212065
HP:0009124	Abnormal adipose tissue morphology	7040	TGFB1	ORPHA:1328
HP:0009124	Abnormal adipose tissue morphology	23545	ATP6V0A2	ORPHA:357074
HP:0009124	Abnormal adipose tissue morphology	523	ATP6V1A	ORPHA:357074
HP:0009124	Abnormal adipose tissue morphology	529	ATP6V1E1	ORPHA:357074
HP:0009124	Abnormal adipose tissue morphology	79718	TBL1XR1	ORPHA:487825
HP:0009124	Abnormal adipose tissue morphology	641	BLM	ORPHA:125
HP:0009124	Abnormal adipose tissue morphology	284119	CAVIN1	ORPHA:528
HP:0009124	Abnormal adipose tissue morphology	2353	FOS	ORPHA:528
HP:0009124	Abnormal adipose tissue morphology	400916	CHCHD10	ORPHA:276435
HP:0009124	Abnormal adipose tissue morphology	3991	LIPE	ORPHA:435660
HP:0009124	Abnormal adipose tissue morphology	56984	PSMG2	OMIM:619183
HP:0009124	Abnormal adipose tissue morphology	26580	BSCL2	ORPHA:363400
HP:0009124	Abnormal adipose tissue morphology	10269	ZMPSTE24	OMIM:608612
HP:0009124	Abnormal adipose tissue morphology	10269	ZMPSTE24	ORPHA:90154
HP:0009124	Abnormal adipose tissue morphology	857	CAV1	OMIM:612526
HP:0009124	Abnormal adipose tissue morphology	2200	FBN1	OMIM:616914
HP:0009124	Abnormal adipose tissue morphology	10651	MTX2	OMIM:619127
HP:0009124	Abnormal adipose tissue morphology	3763	KCNJ6	OMIM:614098
HP:0009124	Abnormal adipose tissue morphology	7421	VDR	ORPHA:93160
HP:0009124	Abnormal adipose tissue morphology	7305	TYROBP	ORPHA:2770
HP:0009124	Abnormal adipose tissue morphology	54209	TREM2	ORPHA:2770
HP:0009124	Abnormal adipose tissue morphology	440138	ALG11	ORPHA:280071
HP:0009124	Abnormal adipose tissue morphology	64840	PORCN	ORPHA:2092
HP:0009124	Abnormal adipose tissue morphology	79087	ALG12	ORPHA:79324
HP:0009124	Abnormal adipose tissue morphology	11285	B4GALT7	ORPHA:75496
HP:0009124	Abnormal adipose tissue morphology	27183	VPS4A	OMIM:619273
HP:0009124	Abnormal adipose tissue morphology	1798	DPAGT1	ORPHA:86309
HP:0009124	Abnormal adipose tissue morphology	90268	OTULIN	OMIM:617099
HP:0009124	Abnormal adipose tissue morphology	83932	SPRTN	OMIM:616200
HP:0009124	Abnormal adipose tissue morphology	213	ALB	OMIM:616000
HP:0009124	Abnormal adipose tissue morphology	213	ALB	ORPHA:86816
HP:0009124	Abnormal adipose tissue morphology	117581	TWIST2	OMIM:209885
HP:0009124	Abnormal adipose tissue morphology	79796	ALG9	OMIM:608776
HP:0009124	Abnormal adipose tissue morphology	79796	ALG9	ORPHA:79328
HP:0009124	Abnormal adipose tissue morphology	1650	DDOST	ORPHA:300536
HP:0009124	Abnormal adipose tissue morphology	51371	POMP	OMIM:618048
HP:0009124	Abnormal adipose tissue morphology	5692	PSMB4	OMIM:617591
HP:0009124	Abnormal adipose tissue morphology	5698	PSMB9	OMIM:617591
HP:0009124	Abnormal adipose tissue morphology	1777	DNASE2	OMIM:619858
HP:0009124	Abnormal adipose tissue morphology	208	AKT2	ORPHA:79085
HP:0009124	Abnormal adipose tissue morphology	2917	GRM7	OMIM:618922
HP:0009124	Abnormal adipose tissue morphology	10195	ALG3	ORPHA:79321
HP:0009124	Abnormal adipose tissue morphology	2273	FHL1	ORPHA:98863
HP:0009124	Abnormal adipose tissue morphology	2010	EMD	ORPHA:98863
HP:0009124	Abnormal adipose tissue morphology	64788	LMF1	OMIM:246650
HP:0009124	Abnormal adipose tissue morphology	55315	SLC29A3	ORPHA:168569
HP:0009124	Abnormal adipose tissue morphology	79188	TMEM43	ORPHA:98853
HP:0009124	Abnormal adipose tissue morphology	23345	SYNE1	ORPHA:98853
HP:0009124	Abnormal adipose tissue morphology	23224	SYNE2	ORPHA:98853
HP:0009124	Abnormal adipose tissue morphology	5122	PCSK1	ORPHA:71528
HP:0009124	Abnormal adipose tissue morphology	51763	INPP5K	OMIM:617404
HP:0009124	Abnormal adipose tissue morphology	4160	MC4R	ORPHA:71529
HP:0009124	Abnormal adipose tissue morphology	5443	POMC	ORPHA:71526
HP:0009124	Abnormal adipose tissue morphology	10483	SEC23B	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	5728	PTEN	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	5728	PTEN	ORPHA:109
HP:0009124	Abnormal adipose tissue morphology	5728	PTEN	ORPHA:744
HP:0009124	Abnormal adipose tissue morphology	6390	SDHB	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	6392	SDHD	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	6391	SDHC	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	205717	USF3	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	100144748	KLLN	ORPHA:201
HP:0009124	Abnormal adipose tissue morphology	6872	TAF1	ORPHA:480907
HP:0009124	Abnormal adipose tissue morphology	79577	CDC73	ORPHA:143
HP:0009124	Abnormal adipose tissue morphology	79577	CDC73	ORPHA:99880
HP:0009124	Abnormal adipose tissue morphology	57688	ZSWIM6	OMIM:603671
HP:0009124	Abnormal adipose tissue morphology	6134	RPL10	ORPHA:435938
HP:0009124	Abnormal adipose tissue morphology	114803	MYSM1	ORPHA:508542
HP:0009124	Abnormal adipose tissue morphology	355	FAS	ORPHA:3261
HP:0009124	Abnormal adipose tissue morphology	356	FASLG	ORPHA:3261
HP:0009124	Abnormal adipose tissue morphology	5580	PRKCD	ORPHA:3261
HP:0009124	Abnormal adipose tissue morphology	843	CASP10	ORPHA:3261
HP:0009124	Abnormal adipose tissue morphology	10125	RASGRP1	ORPHA:3261
HP:0009124	Abnormal adipose tissue morphology	84868	HAVCR2	OMIM:618398
HP:0009124	Abnormal adipose tissue morphology	84868	HAVCR2	ORPHA:86884
HP:0009124	Abnormal adipose tissue morphology	51816	ADA2	OMIM:615688
HP:0009124	Abnormal adipose tissue morphology	3832	KIF11	ORPHA:2526
HP:0009124	Abnormal adipose tissue morphology	92579	G6PC3	OMIM:612541
HP:0009124	Abnormal adipose tissue morphology	3932	LCK	OMIM:615758
HP:0009124	Abnormal adipose tissue morphology	8517	IKBKG	OMIM:301081
HP:0009124	Abnormal adipose tissue morphology	4210	MEFV	ORPHA:3243
HP:0009124	Abnormal adipose tissue morphology	4210	MEFV	OMIM:608068
HP:0009124	Abnormal adipose tissue morphology	5566	PRKACA	OMIM:615830
HP:0009124	Abnormal adipose tissue morphology	5566	PRKACA	ORPHA:189439
HP:0009124	Abnormal adipose tissue morphology	79798	ARMC5	ORPHA:189427
HP:0009124	Abnormal adipose tissue morphology	2778	GNAS	ORPHA:189427
HP:0009124	Abnormal adipose tissue morphology	8622	PDE8B	ORPHA:189439
HP:0009124	Abnormal adipose tissue morphology	5573	PRKAR1A	ORPHA:189439
HP:0009124	Abnormal adipose tissue morphology	5573	PRKAR1A	ORPHA:1359
HP:0009124	Abnormal adipose tissue morphology	50940	PDE11A	ORPHA:189439
HP:0009124	Abnormal adipose tissue morphology	50940	PDE11A	ORPHA:1359
HP:0009124	Abnormal adipose tissue morphology	7840	ALMS1	ORPHA:64
HP:0009124	Abnormal adipose tissue morphology	84196	USP48	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	7157	TP53	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	9101	USP8	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	64072	CDH23	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	2908	NR3C1	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	673	BRAF	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	546	ATRX	ORPHA:96253
HP:0009124	Abnormal adipose tissue morphology	93587	TRMT10A	ORPHA:391408
HP:0009124	Abnormal adipose tissue morphology	93587	TRMT10A	OMIM:616033
HP:0009124	Abnormal adipose tissue morphology	84919	PPP1R15B	ORPHA:391408
HP:0009124	Abnormal adipose tissue morphology	55131	RBM28	ORPHA:157954
HP:0009124	Abnormal adipose tissue morphology	9015	TAF1A	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	5663	PSEN1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	6389	SDHA	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7112	TMPO	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	9464	HAND2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	4625	MYH7	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	88	ACTN2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	10486	CAP2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	10060	ABCC9	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7168	TPM1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7414	VCL	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	1832	DSP	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	70	ACTC1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	27063	ANKRD1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	8048	CSRP3	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	1410	CRYAB	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7139	TNNT2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	1829	DSG2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	3910	LAMA4	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	63976	PRDM16	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7273	TTN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	10587	TXNRD2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	9531	BAG3	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	5350	PLN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	91624	NEXN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	79717	PPCS	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	5664	PSEN2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	4624	MYH6	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	9529	BAG5	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	4607	MYBPC3	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	282996	RBM20	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7137	TNNI3	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	11155	LDB3	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	2274	FHL2	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	6901	TAFAZZIN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	22845	DOLK	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	5894	RAF1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	1756	DMD	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	57798	GATAD1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	7134	TNNC1	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	84665	MYPN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	1674	DES	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	6444	SGCD	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	6331	SCN5A	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	2218	FKTN	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	8557	TCAP	ORPHA:154
HP:0009124	Abnormal adipose tissue morphology	8815	BANF1	OMIM:614008
HP:0009124	Abnormal adipose tissue morphology	60	ACTB	ORPHA:64755
HP:0009124	Abnormal adipose tissue morphology	5346	PLIN1	OMIM:613877
HP:0009124	Abnormal adipose tissue morphology	5346	PLIN1	ORPHA:280356
HP:0009124	Abnormal adipose tissue morphology	84823	LMNB2	ORPHA:79087
HP:0009124	Abnormal adipose tissue morphology	7486	WRN	ORPHA:902
HP:0009124	Abnormal adipose tissue morphology	2517	FUCA1	ORPHA:349
HP:0009124	Abnormal adipose tissue morphology	5159	PDGFRB	OMIM:601812
HP:0009124	Abnormal adipose tissue morphology	79827	CLMP	ORPHA:2301
HP:0009124	Abnormal adipose tissue morphology	2316	FLNA	ORPHA:2301
HP:0009124	Abnormal adipose tissue morphology	10535	RNASEH2A	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	84153	RNASEH2C	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	25939	SAMHD1	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	79621	RNASEH2B	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	103	ADAR	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	11277	TREX1	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	100147744	RNU7-1	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	134353	LSM11	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	64135	IFIH1	ORPHA:51
HP:0009124	Abnormal adipose tissue morphology	1281	COL3A1	ORPHA:2500
HP:0009124	Abnormal adipose tissue morphology	29957	SLC25A24	ORPHA:2963
HP:0009125	Lipodystrophy	56984	PSMG2	OMIM:619183
HP:0009125	Lipodystrophy	26580	BSCL2	ORPHA:363400
HP:0009125	Lipodystrophy	10269	ZMPSTE24	OMIM:608612
HP:0009125	Lipodystrophy	10269	ZMPSTE24	ORPHA:90154
HP:0009125	Lipodystrophy	857	CAV1	OMIM:612526
HP:0009125	Lipodystrophy	10651	MTX2	OMIM:619127
HP:0009125	Lipodystrophy	3763	KCNJ6	OMIM:614098
HP:0009125	Lipodystrophy	11285	B4GALT7	ORPHA:75496
HP:0009125	Lipodystrophy	27183	VPS4A	OMIM:619273
HP:0009125	Lipodystrophy	1798	DPAGT1	ORPHA:86309
HP:0009125	Lipodystrophy	90268	OTULIN	OMIM:617099
HP:0009125	Lipodystrophy	83932	SPRTN	OMIM:616200
HP:0009125	Lipodystrophy	213	ALB	OMIM:616000
HP:0009125	Lipodystrophy	213	ALB	ORPHA:86816
HP:0009125	Lipodystrophy	3991	LIPE	ORPHA:435660
HP:0009125	Lipodystrophy	3991	LIPE	OMIM:615980
HP:0009125	Lipodystrophy	117581	TWIST2	OMIM:209885
HP:0009125	Lipodystrophy	63924	CIDEC	OMIM:615238
HP:0009125	Lipodystrophy	63924	CIDEC	ORPHA:435651
HP:0009125	Lipodystrophy	79796	ALG9	OMIM:608776
HP:0009125	Lipodystrophy	79796	ALG9	ORPHA:79328
HP:0009125	Lipodystrophy	23545	ATP6V0A2	OMIM:219200
HP:0009125	Lipodystrophy	23545	ATP6V0A2	ORPHA:357074
HP:0009125	Lipodystrophy	23545	ATP6V0A2	ORPHA:2834
HP:0009125	Lipodystrophy	5373	PMM2	ORPHA:79318
HP:0009125	Lipodystrophy	1650	DDOST	ORPHA:300536
HP:0009125	Lipodystrophy	51371	POMP	OMIM:618048
HP:0009125	Lipodystrophy	5692	PSMB4	OMIM:617591
HP:0009125	Lipodystrophy	5698	PSMB9	OMIM:617591
HP:0009125	Lipodystrophy	523	ATP6V1A	ORPHA:357074
HP:0009125	Lipodystrophy	529	ATP6V1E1	ORPHA:357074
HP:0009125	Lipodystrophy	1777	DNASE2	OMIM:619858
HP:0009125	Lipodystrophy	208	AKT2	ORPHA:79085
HP:0009125	Lipodystrophy	2260	FGFR1	ORPHA:2396
HP:0009125	Lipodystrophy	3845	KRAS	ORPHA:2396
HP:0009125	Lipodystrophy	2917	GRM7	OMIM:618922
HP:0009125	Lipodystrophy	10195	ALG3	ORPHA:79321
HP:0009125	Lipodystrophy	10555	AGPAT2	ORPHA:528
HP:0009125	Lipodystrophy	10555	AGPAT2	OMIM:608594
HP:0009125	Lipodystrophy	284119	CAVIN1	ORPHA:528
HP:0009125	Lipodystrophy	284119	CAVIN1	OMIM:613327
HP:0009125	Lipodystrophy	2353	FOS	ORPHA:528
HP:0009125	Lipodystrophy	2273	FHL1	ORPHA:98863
HP:0009125	Lipodystrophy	2010	EMD	ORPHA:98863
HP:0009125	Lipodystrophy	5424	POLD1	OMIM:615381
HP:0009125	Lipodystrophy	64788	LMF1	OMIM:246650
HP:0009125	Lipodystrophy	55315	SLC29A3	ORPHA:168569
HP:0009125	Lipodystrophy	5696	PSMB8	OMIM:256040
HP:0009125	Lipodystrophy	3480	IGF1R	OMIM:270450
HP:0009125	Lipodystrophy	79188	TMEM43	ORPHA:98853
HP:0009125	Lipodystrophy	23345	SYNE1	ORPHA:98853
HP:0009125	Lipodystrophy	23224	SYNE2	ORPHA:98853
HP:0009125	Lipodystrophy	5290	PIK3CA	ORPHA:276280
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:280365
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:154
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:79084
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:363618
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:79474
HP:0009125	Lipodystrophy	4000	LMNA	ORPHA:2348
HP:0009125	Lipodystrophy	5295	PIK3R1	OMIM:269880
HP:0009125	Lipodystrophy	55131	RBM28	ORPHA:157954
HP:0009125	Lipodystrophy	9015	TAF1A	ORPHA:154
HP:0009125	Lipodystrophy	5663	PSEN1	ORPHA:154
HP:0009125	Lipodystrophy	6389	SDHA	ORPHA:154
HP:0009125	Lipodystrophy	7112	TMPO	ORPHA:154
HP:0009125	Lipodystrophy	9464	HAND2	ORPHA:154
HP:0009125	Lipodystrophy	4625	MYH7	ORPHA:154
HP:0009125	Lipodystrophy	88	ACTN2	ORPHA:154
HP:0009125	Lipodystrophy	10486	CAP2	ORPHA:154
HP:0009125	Lipodystrophy	10060	ABCC9	ORPHA:154
HP:0009125	Lipodystrophy	7168	TPM1	ORPHA:154
HP:0009125	Lipodystrophy	7414	VCL	ORPHA:154
HP:0009125	Lipodystrophy	1832	DSP	ORPHA:154
HP:0009125	Lipodystrophy	70	ACTC1	ORPHA:154
HP:0009125	Lipodystrophy	27063	ANKRD1	ORPHA:154
HP:0009125	Lipodystrophy	8048	CSRP3	ORPHA:154
HP:0009125	Lipodystrophy	1410	CRYAB	ORPHA:154
HP:0009125	Lipodystrophy	7139	TNNT2	ORPHA:154
HP:0009125	Lipodystrophy	1829	DSG2	ORPHA:154
HP:0009125	Lipodystrophy	3910	LAMA4	ORPHA:154
HP:0009125	Lipodystrophy	63976	PRDM16	ORPHA:154
HP:0009125	Lipodystrophy	7273	TTN	ORPHA:154
HP:0009125	Lipodystrophy	10587	TXNRD2	ORPHA:154
HP:0009125	Lipodystrophy	9531	BAG3	ORPHA:154
HP:0009125	Lipodystrophy	5350	PLN	ORPHA:154
HP:0009125	Lipodystrophy	91624	NEXN	ORPHA:154
HP:0009125	Lipodystrophy	79717	PPCS	ORPHA:154
HP:0009125	Lipodystrophy	5664	PSEN2	ORPHA:154
HP:0009125	Lipodystrophy	4624	MYH6	ORPHA:154
HP:0009125	Lipodystrophy	9529	BAG5	ORPHA:154
HP:0009125	Lipodystrophy	4607	MYBPC3	ORPHA:154
HP:0009125	Lipodystrophy	282996	RBM20	ORPHA:154
HP:0009125	Lipodystrophy	7137	TNNI3	ORPHA:154
HP:0009125	Lipodystrophy	11155	LDB3	ORPHA:154
HP:0009125	Lipodystrophy	2274	FHL2	ORPHA:154
HP:0009125	Lipodystrophy	6901	TAFAZZIN	ORPHA:154
HP:0009125	Lipodystrophy	22845	DOLK	ORPHA:154
HP:0009125	Lipodystrophy	5894	RAF1	ORPHA:154
HP:0009125	Lipodystrophy	1756	DMD	ORPHA:154
HP:0009125	Lipodystrophy	57798	GATAD1	ORPHA:154
HP:0009125	Lipodystrophy	7134	TNNC1	ORPHA:154
HP:0009125	Lipodystrophy	84665	MYPN	ORPHA:154
HP:0009125	Lipodystrophy	1674	DES	ORPHA:154
HP:0009125	Lipodystrophy	6444	SGCD	ORPHA:154
HP:0009125	Lipodystrophy	6331	SCN5A	ORPHA:154
HP:0009125	Lipodystrophy	2218	FKTN	ORPHA:154
HP:0009125	Lipodystrophy	8557	TCAP	ORPHA:154
HP:0009125	Lipodystrophy	2200	FBN1	ORPHA:2833
HP:0009125	Lipodystrophy	2200	FBN1	ORPHA:284979
HP:0009125	Lipodystrophy	2200	FBN1	OMIM:616914
HP:0009125	Lipodystrophy	5468	PPARG	ORPHA:79083
HP:0009125	Lipodystrophy	8815	BANF1	OMIM:614008
HP:0009125	Lipodystrophy	60	ACTB	ORPHA:64755
HP:0009125	Lipodystrophy	5346	PLIN1	OMIM:613877
HP:0009125	Lipodystrophy	5346	PLIN1	ORPHA:280356
HP:0009125	Lipodystrophy	84823	LMNB2	ORPHA:79087
HP:0009125	Lipodystrophy	11128	POLR3A	OMIM:264090
HP:0009125	Lipodystrophy	11128	POLR3A	ORPHA:3455
HP:0009125	Lipodystrophy	7486	WRN	ORPHA:902
HP:0009125	Lipodystrophy	2517	FUCA1	ORPHA:349
HP:0009125	Lipodystrophy	5159	PDGFRB	OMIM:601812
HP:0009125	Lipodystrophy	79827	CLMP	ORPHA:2301
HP:0009125	Lipodystrophy	2316	FLNA	ORPHA:2301
HP:0009125	Lipodystrophy	10535	RNASEH2A	ORPHA:51
HP:0009125	Lipodystrophy	84153	RNASEH2C	ORPHA:51
HP:0009125	Lipodystrophy	25939	SAMHD1	ORPHA:51
HP:0009125	Lipodystrophy	79621	RNASEH2B	ORPHA:51
HP:0009125	Lipodystrophy	103	ADAR	ORPHA:51
HP:0009125	Lipodystrophy	11277	TREX1	ORPHA:51
HP:0009125	Lipodystrophy	100147744	RNU7-1	ORPHA:51
HP:0009125	Lipodystrophy	134353	LSM11	ORPHA:51
HP:0009125	Lipodystrophy	64135	IFIH1	ORPHA:51
HP:0009125	Lipodystrophy	1281	COL3A1	ORPHA:2500
HP:0009125	Lipodystrophy	29957	SLC25A24	ORPHA:2963
HP:0009126	Increased adipose tissue	400916	CHCHD10	ORPHA:276435
HP:0009126	Increased adipose tissue	3991	LIPE	ORPHA:435660
HP:0009126	Increased adipose tissue	4000	LMNA	ORPHA:280365
HP:0009126	Increased adipose tissue	4000	LMNA	OMIM:151660
HP:0009126	Increased adipose tissue	208	AKT2	ORPHA:79085
HP:0009126	Increased adipose tissue	11128	POLR3A	ORPHA:3455
HP:0009126	Increased adipose tissue	5122	PCSK1	ORPHA:71528
HP:0009126	Increased adipose tissue	51763	INPP5K	OMIM:617404
HP:0009126	Increased adipose tissue	4160	MC4R	ORPHA:71529
HP:0009126	Increased adipose tissue	5443	POMC	ORPHA:71526
HP:0009126	Increased adipose tissue	4566	MT-TK	ORPHA:1349
HP:0009127	Abnormality of the musculature of the limbs	6138	RPL15	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6229	RPS24	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6125	RPL5	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6204	RPS10	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6224	RPS20	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6165	RPL35A	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	2623	GATA1	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6223	RPS19	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6232	RPS27	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6231	RPS26	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	11224	RPL35	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6160	RPL31	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6218	RPS17	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6201	RPS7	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6155	RPL27	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6154	RPL26	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6210	RPS15A	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	90121	TSR2	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6141	RPL18	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6235	RPS29	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6234	RPS28	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	51816	ADA2	ORPHA:124
HP:0009127	Abnormality of the musculature of the limbs	6910	TBX5	OMIM:142900
HP:0009127	Abnormality of the musculature of the limbs	5889	RAD51C	OMIM:613390
HP:0009127	Abnormality of the musculature of the limbs	23291	FBXW11	OMIM:618914
HP:0009127	Abnormality of the musculature of the limbs	2263	FGFR2	OMIM:149730
HP:0009127	Abnormality of the musculature of the limbs	3209	HOXA13	OMIM:140000
HP:0009127	Abnormality of the musculature of the limbs	55958	KLHL9	ORPHA:399081
HP:0009127	Abnormality of the musculature of the limbs	29926	GMPPA	ORPHA:869
HP:0009127	Abnormality of the musculature of the limbs	60684	TRAPPC11	ORPHA:869
HP:0009127	Abnormality of the musculature of the limbs	8086	AAAS	ORPHA:869
HP:0009127	Abnormality of the musculature of the limbs	22943	DKK1	ORPHA:268882
HP:0009127	Abnormality of the musculature of the limbs	57531	HACE1	ORPHA:464282
HP:0009127	Abnormality of the musculature of the limbs	6329	SCN4A	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	1134	CHRNA1	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	4038	LRP4	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	1305	COL13A1	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	1140	CHRNB1	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	1144	CHRND	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	1145	CHRNE	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	4593	MUSK	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	5913	RAPSN	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	375790	AGRN	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	221264	AK9	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	285489	DOK7	ORPHA:98913
HP:0009127	Abnormality of the musculature of the limbs	10682	EBP	ORPHA:401973
HP:0009127	Abnormality of the musculature of the limbs	340075	ARSI	ORPHA:401815
HP:0009127	Abnormality of the musculature of the limbs	8367	H4C5	OMIM:619950
HP:0009127	Abnormality of the musculature of the limbs	57498	KIDINS220	OMIM:617296
HP:0009127	Abnormality of the musculature of the limbs	56006	SMG9	OMIM:616920
HP:0009127	Abnormality of the musculature of the limbs	26128	KIFBP	OMIM:609460
HP:0009127	Abnormality of the musculature of the limbs	2643	GCH1	OMIM:233910
HP:0009127	Abnormality of the musculature of the limbs	25977	NECAP1	OMIM:615833
HP:0009127	Abnormality of the musculature of the limbs	25977	NECAP1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	55325	UFSP2	OMIM:620028
HP:0009127	Abnormality of the musculature of the limbs	9289	ADGRG1	ORPHA:98889
HP:0009127	Abnormality of the musculature of the limbs	27286	SRPX2	ORPHA:98889
HP:0009127	Abnormality of the musculature of the limbs	6697	SPR	ORPHA:70594
HP:0009127	Abnormality of the musculature of the limbs	80222	TARS2	OMIM:615918
HP:0009127	Abnormality of the musculature of the limbs	1161	ERCC8	ORPHA:90322
HP:0009127	Abnormality of the musculature of the limbs	2067	ERCC1	ORPHA:90322
HP:0009127	Abnormality of the musculature of the limbs	2074	ERCC6	ORPHA:90322
HP:0009127	Abnormality of the musculature of the limbs	7343	UBTF	ORPHA:500180
HP:0009127	Abnormality of the musculature of the limbs	111	ADCY5	OMIM:606703
HP:0009127	Abnormality of the musculature of the limbs	111	ADCY5	ORPHA:324588
HP:0009127	Abnormality of the musculature of the limbs	2258	FGF13	OMIM:301058
HP:0009127	Abnormality of the musculature of the limbs	2258	FGF13	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	51611	DPH5	OMIM:620070
HP:0009127	Abnormality of the musculature of the limbs	5631	PRPS1	ORPHA:423479
HP:0009127	Abnormality of the musculature of the limbs	2972	BRF1	ORPHA:444072
HP:0009127	Abnormality of the musculature of the limbs	6531	SLC6A3	ORPHA:238455
HP:0009127	Abnormality of the musculature of the limbs	56521	DNAJC12	OMIM:617384
HP:0009127	Abnormality of the musculature of the limbs	64801	ARV1	OMIM:617020
HP:0009127	Abnormality of the musculature of the limbs	64801	ARV1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	9578	CDC42BPB	OMIM:619841
HP:0009127	Abnormality of the musculature of the limbs	440138	ALG11	ORPHA:280071
HP:0009127	Abnormality of the musculature of the limbs	10300	KATNB1	OMIM:616212
HP:0009127	Abnormality of the musculature of the limbs	51506	UFC1	OMIM:618076
HP:0009127	Abnormality of the musculature of the limbs	2782	GNB1	ORPHA:488613
HP:0009127	Abnormality of the musculature of the limbs	2782	GNB1	OMIM:616973
HP:0009127	Abnormality of the musculature of the limbs	23310	NCAPD3	OMIM:617984
HP:0009127	Abnormality of the musculature of the limbs	9373	PLAA	ORPHA:521426
HP:0009127	Abnormality of the musculature of the limbs	64135	IFIH1	OMIM:615846
HP:0009127	Abnormality of the musculature of the limbs	9562	MINPP1	OMIM:619527
HP:0009127	Abnormality of the musculature of the limbs	1644	DDC	OMIM:608643
HP:0009127	Abnormality of the musculature of the limbs	10978	CLP1	OMIM:615803
HP:0009127	Abnormality of the musculature of the limbs	11128	POLR3A	ORPHA:3455
HP:0009127	Abnormality of the musculature of the limbs	23065	EMC1	ORPHA:480898
HP:0009127	Abnormality of the musculature of the limbs	23065	EMC1	OMIM:616875
HP:0009127	Abnormality of the musculature of the limbs	9179	AP4M1	OMIM:612936
HP:0009127	Abnormality of the musculature of the limbs	60386	SLC25A19	OMIM:607196
HP:0009127	Abnormality of the musculature of the limbs	60386	SLC25A19	ORPHA:99742
HP:0009127	Abnormality of the musculature of the limbs	55691	FRMD4A	ORPHA:466688
HP:0009127	Abnormality of the musculature of the limbs	55252	ASXL2	OMIM:617190
HP:0009127	Abnormality of the musculature of the limbs	9101	USP8	ORPHA:401795
HP:0009127	Abnormality of the musculature of the limbs	1725	DHPS	OMIM:618480
HP:0009127	Abnormality of the musculature of the limbs	25839	COG4	ORPHA:263501
HP:0009127	Abnormality of the musculature of the limbs	25839	COG4	OMIM:613489
HP:0009127	Abnormality of the musculature of the limbs	4718	NDUFC2	OMIM:619170
HP:0009127	Abnormality of the musculature of the limbs	5805	PTS	OMIM:261640
HP:0009127	Abnormality of the musculature of the limbs	84340	GFM2	ORPHA:565624
HP:0009127	Abnormality of the musculature of the limbs	23221	RHOBTB2	OMIM:618004
HP:0009127	Abnormality of the musculature of the limbs	4704	NDUFA9	OMIM:618247
HP:0009127	Abnormality of the musculature of the limbs	440	ASNS	OMIM:615574
HP:0009127	Abnormality of the musculature of the limbs	8913	CACNA1G	OMIM:618087
HP:0009127	Abnormality of the musculature of the limbs	10463	SLC30A9	OMIM:617595
HP:0009127	Abnormality of the musculature of the limbs	8120	AP3B2	OMIM:617276
HP:0009127	Abnormality of the musculature of the limbs	8120	AP3B2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	10352	WARS2	OMIM:617710
HP:0009127	Abnormality of the musculature of the limbs	10352	WARS2	ORPHA:572798
HP:0009127	Abnormality of the musculature of the limbs	51227	PIGP	OMIM:617599
HP:0009127	Abnormality of the musculature of the limbs	80746	TSEN2	OMIM:612389
HP:0009127	Abnormality of the musculature of the limbs	29920	PYCR2	ORPHA:481152
HP:0009127	Abnormality of the musculature of the limbs	2917	GRM7	OMIM:618922
HP:0009127	Abnormality of the musculature of the limbs	28962	OSTM1	OMIM:259720
HP:0009127	Abnormality of the musculature of the limbs	5095	PCCA	OMIM:606054
HP:0009127	Abnormality of the musculature of the limbs	5096	PCCB	OMIM:606054
HP:0009127	Abnormality of the musculature of the limbs	2898	GRIK2	OMIM:619580
HP:0009127	Abnormality of the musculature of the limbs	6567	SLC16A2	ORPHA:59
HP:0009127	Abnormality of the musculature of the limbs	57599	WDR48	ORPHA:401800
HP:0009127	Abnormality of the musculature of the limbs	2906	GRIN2D	OMIM:617162
HP:0009127	Abnormality of the musculature of the limbs	2906	GRIN2D	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	221927	BRAT1	OMIM:618056
HP:0009127	Abnormality of the musculature of the limbs	221927	BRAT1	OMIM:614498
HP:0009127	Abnormality of the musculature of the limbs	10243	GPHN	OMIM:615501
HP:0009127	Abnormality of the musculature of the limbs	6785	ELOVL4	OMIM:614457
HP:0009127	Abnormality of the musculature of the limbs	3737	KCNA2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	1759	DNM1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	523	ATP6V1A	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	10991	SLC38A3	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	51343	FZR1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	22906	TRAK1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	2566	GABRG2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	1917	EEF1A2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	2561	GABRB2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	8831	SYNGAP1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	7532	YWHAG	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	79876	UBA5	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	6328	SCN3A	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	2558	GABRA5	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	781	CACNA2D1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	116150	NUS1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	10659	CELF2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	774	CACNA1B	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	1213	CLTC	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	51741	WWOX	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	23334	SZT2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	51412	ACTL6B	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	348980	HCN1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	6506	SLC1A2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	477	ATP1A2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	3745	KCNB1	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	284111	SLC13A5	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	284111	SLC13A5	OMIM:615905
HP:0009127	Abnormality of the musculature of the limbs	6334	SCN8A	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	22866	CNKSR2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	9568	GABBR2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	2555	GABRA2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	55152	DALRD3	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	773	CACNA1A	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	26999	CYFIP2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	4915	NTRK2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	25973	PARS2	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	23097	CDK19	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	79947	DHDDS	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	2257	FGF12	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	5530	PPP3CA	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	478	ATP1A3	ORPHA:442835
HP:0009127	Abnormality of the musculature of the limbs	57572	DOCK6	OMIM:614219
HP:0009127	Abnormality of the musculature of the limbs	59336	PRDM13	OMIM:619909
HP:0009127	Abnormality of the musculature of the limbs	9215	LARGE1	ORPHA:370968
HP:0009127	Abnormality of the musculature of the limbs	10585	POMT1	ORPHA:370968
HP:0009127	Abnormality of the musculature of the limbs	10585	POMT1	OMIM:609308
HP:0009127	Abnormality of the musculature of the limbs	10585	POMT1	ORPHA:86812
HP:0009127	Abnormality of the musculature of the limbs	1605	DAG1	OMIM:613818
HP:0009127	Abnormality of the musculature of the limbs	112812	FDX2	OMIM:251900
HP:0009127	Abnormality of the musculature of the limbs	84197	POMK	OMIM:616094
HP:0009127	Abnormality of the musculature of the limbs	56203	LMOD3	ORPHA:171436
HP:0009127	Abnormality of the musculature of the limbs	1311	COMP	OMIM:619161
HP:0009127	Abnormality of the musculature of the limbs	91252	SLC39A13	ORPHA:157965
HP:0009127	Abnormality of the musculature of the limbs	91252	SLC39A13	OMIM:612350
HP:0009127	Abnormality of the musculature of the limbs	8985	PLOD3	OMIM:612394
HP:0009127	Abnormality of the musculature of the limbs	3710	ITPR3	OMIM:620111
HP:0009127	Abnormality of the musculature of the limbs	3425	IDUA	OMIM:607015
HP:0009127	Abnormality of the musculature of the limbs	8729	GBF1	OMIM:606483
HP:0009127	Abnormality of the musculature of the limbs	6445	SGCG	ORPHA:353
HP:0009127	Abnormality of the musculature of the limbs	4000	LMNA	OMIM:605588
HP:0009127	Abnormality of the musculature of the limbs	4000	LMNA	OMIM:613205
HP:0009127	Abnormality of the musculature of the limbs	91574	MTRFR	ORPHA:254930
HP:0009127	Abnormality of the musculature of the limbs	91574	MTRFR	ORPHA:320375
HP:0009127	Abnormality of the musculature of the limbs	1789	DNMT3B	OMIM:619478
HP:0009127	Abnormality of the musculature of the limbs	9420	CYP7B1	ORPHA:100986
HP:0009127	Abnormality of the musculature of the limbs	9420	CYP7B1	OMIM:270800
HP:0009127	Abnormality of the musculature of the limbs	4744	NEFH	OMIM:616924
HP:0009127	Abnormality of the musculature of the limbs	4747	NEFL	ORPHA:99939
HP:0009127	Abnormality of the musculature of the limbs	2617	GARS1	ORPHA:139536
HP:0009127	Abnormality of the musculature of the limbs	2617	GARS1	OMIM:600794
HP:0009127	Abnormality of the musculature of the limbs	2617	GARS1	OMIM:601472
HP:0009127	Abnormality of the musculature of the limbs	26580	BSCL2	ORPHA:139536
HP:0009127	Abnormality of the musculature of the limbs	65055	REEP1	ORPHA:139536
HP:0009127	Abnormality of the musculature of the limbs	8314	BAP1	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	4771	NF2	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	6598	SMARCB1	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	5155	PDGFB	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	84231	TRAF7	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	6608	SMO	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	207	AKT1	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	5290	PIK3CA	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	7015	TERT	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	51684	SUFU	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	6605	SMARCE1	ORPHA:2495
HP:0009127	Abnormality of the musculature of the limbs	6687	SPG7	ORPHA:99013
HP:0009127	Abnormality of the musculature of the limbs	6687	SPG7	OMIM:607259
HP:0009127	Abnormality of the musculature of the limbs	1959	EGR2	OMIM:607678
HP:0009127	Abnormality of the musculature of the limbs	1959	EGR2	OMIM:605253
HP:0009127	Abnormality of the musculature of the limbs	4359	MPZ	OMIM:607677
HP:0009127	Abnormality of the musculature of the limbs	4359	MPZ	OMIM:607791
HP:0009127	Abnormality of the musculature of the limbs	2581	GALC	ORPHA:206443
HP:0009127	Abnormality of the musculature of the limbs	2581	GALC	ORPHA:206448
HP:0009127	Abnormality of the musculature of the limbs	6305	SBF1	OMIM:615284
HP:0009127	Abnormality of the musculature of the limbs	3074	HEXB	ORPHA:309169
HP:0009127	Abnormality of the musculature of the limbs	8566	PDXK	OMIM:618511
HP:0009127	Abnormality of the musculature of the limbs	63895	PIEZO2	OMIM:617146
HP:0009127	Abnormality of the musculature of the limbs	22880	MORC2	ORPHA:466768
HP:0009127	Abnormality of the musculature of the limbs	10342	TFG	ORPHA:90117
HP:0009127	Abnormality of the musculature of the limbs	8565	YARS1	OMIM:608323
HP:0009127	Abnormality of the musculature of the limbs	5456	POU3F4	ORPHA:1435
HP:0009127	Abnormality of the musculature of the limbs	7428	VHL	ORPHA:892
HP:0009127	Abnormality of the musculature of the limbs	595	CCND1	ORPHA:892
HP:0009127	Abnormality of the musculature of the limbs	4508	MT-ATP6	ORPHA:225154
HP:0009127	Abnormality of the musculature of the limbs	23636	NUP62	ORPHA:225154
HP:0009127	Abnormality of the musculature of the limbs	103	ADAR	ORPHA:225154
HP:0009127	Abnormality of the musculature of the limbs	55681	SCYL2	ORPHA:1143
HP:0009127	Abnormality of the musculature of the limbs	84570	COL25A1	ORPHA:1143
HP:0009127	Abnormality of the musculature of the limbs	57222	ERGIC1	ORPHA:1143
HP:0009127	Abnormality of the musculature of the limbs	79628	SH3TC2	OMIM:601596
HP:0009127	Abnormality of the musculature of the limbs	23111	SPART	ORPHA:101000
HP:0009127	Abnormality of the musculature of the limbs	23503	ZFYVE26	ORPHA:100996
HP:0009127	Abnormality of the musculature of the limbs	10667	FARS2	OMIM:617046
HP:0009127	Abnormality of the musculature of the limbs	3508	IGHMBP2	OMIM:616155
HP:0009127	Abnormality of the musculature of the limbs	80199	FUZ	ORPHA:1136
HP:0009127	Abnormality of the musculature of the limbs	2583	B4GALNT1	OMIM:609195
HP:0009127	Abnormality of the musculature of the limbs	3798	KIF5A	OMIM:604187
HP:0009127	Abnormality of the musculature of the limbs	121512	FGD4	OMIM:609311
HP:0009127	Abnormality of the musculature of the limbs	54332	GDAP1	OMIM:608340
HP:0009127	Abnormality of the musculature of the limbs	51099	ABHD5	ORPHA:98907
HP:0009127	Abnormality of the musculature of the limbs	5660	PSAP	ORPHA:206436
HP:0009127	Abnormality of the musculature of the limbs	65260	COA7	OMIM:618387
HP:0009127	Abnormality of the musculature of the limbs	246243	RNASEH1	ORPHA:329336
HP:0009127	Abnormality of the musculature of the limbs	2548	GAA	OMIM:232300
HP:0009127	Abnormality of the musculature of the limbs	1778	DYNC1H1	OMIM:614228
HP:0009127	Abnormality of the musculature of the limbs	79581	SLC52A2	OMIM:614707
HP:0009127	Abnormality of the musculature of the limbs	2670	GFAP	ORPHA:363722
HP:0009127	Abnormality of the musculature of the limbs	23095	KIF1B	OMIM:118210
HP:0009127	Abnormality of the musculature of the limbs	5191	PEX7	OMIM:266500
HP:0009127	Abnormality of the musculature of the limbs	5264	PHYH	OMIM:266500
HP:0009127	Abnormality of the musculature of the limbs	23230	VPS13A	OMIM:200150
HP:0009127	Abnormality of the musculature of the limbs	11149	BVES	OMIM:616812
HP:0009127	Abnormality of the musculature of the limbs	540	ATP7B	OMIM:277900
HP:0009127	Abnormality of the musculature of the limbs	8106	PABPN1	OMIM:164300
HP:0009127	Abnormality of the musculature of the limbs	270	AMPD1	ORPHA:45
HP:0009127	Abnormality of the musculature of the limbs	272	AMPD3	ORPHA:45
HP:0009127	Abnormality of the musculature of the limbs	51	ACOX1	OMIM:618960
HP:0009127	Abnormality of the musculature of the limbs	210	ALAD	ORPHA:100924
HP:0009127	Abnormality of the musculature of the limbs	3920	LAMP2	OMIM:300257
HP:0009127	Abnormality of the musculature of the limbs	6389	SDHA	OMIM:619259
HP:0009127	Abnormality of the musculature of the limbs	7072	TIA1	OMIM:619133
HP:0009127	Abnormality of the musculature of the limbs	966	CD59	OMIM:612300
HP:0009127	Abnormality of the musculature of the limbs	1073	CFL2	OMIM:610687
HP:0009127	Abnormality of the musculature of the limbs	686	BTD	ORPHA:79241
HP:0009127	Abnormality of the musculature of the limbs	57704	GBA2	OMIM:614409
HP:0009127	Abnormality of the musculature of the limbs	5351	PLOD1	ORPHA:1900
HP:0009127	Abnormality of the musculature of the limbs	8139	GAN	ORPHA:643
HP:0009127	Abnormality of the musculature of the limbs	899	CCNF	OMIM:619141
HP:0009127	Abnormality of the musculature of the limbs	4507	MTAP	OMIM:112250
HP:0009127	Abnormality of the musculature of the limbs	367	AR	OMIM:313200
HP:0009127	Abnormality of the musculature of the limbs	9325	TRIP4	ORPHA:486815
HP:0009127	Abnormality of the musculature of the limbs	54808	DYM	ORPHA:239
HP:0009127	Abnormality of the musculature of the limbs	274	BIN1	ORPHA:169186
HP:0009127	Abnormality of the musculature of the limbs	274	BIN1	OMIM:255200
HP:0009127	Abnormality of the musculature of the limbs	10290	SPEG	ORPHA:169186
HP:0009127	Abnormality of the musculature of the limbs	79912	PYROXD1	OMIM:617258
HP:0009127	Abnormality of the musculature of the limbs	9820	CUL7	ORPHA:2616
HP:0009127	Abnormality of the musculature of the limbs	9820	CUL7	OMIM:273750
HP:0009127	Abnormality of the musculature of the limbs	23363	OBSL1	ORPHA:2616
HP:0009127	Abnormality of the musculature of the limbs	23363	OBSL1	OMIM:612921
HP:0009127	Abnormality of the musculature of the limbs	83987	CCDC8	ORPHA:2616
HP:0009127	Abnormality of the musculature of the limbs	6442	SGCA	OMIM:608099
HP:0009127	Abnormality of the musculature of the limbs	6442	SGCA	ORPHA:62
HP:0009127	Abnormality of the musculature of the limbs	729920	CRPPA	OMIM:616052
HP:0009127	Abnormality of the musculature of the limbs	729920	CRPPA	ORPHA:352479
HP:0009127	Abnormality of the musculature of the limbs	55790	CSGALNACT1	OMIM:618870
HP:0009127	Abnormality of the musculature of the limbs	25778	DSTYK	OMIM:270750
HP:0009127	Abnormality of the musculature of the limbs	2673	GFPT1	ORPHA:353327
HP:0009127	Abnormality of the musculature of the limbs	1798	DPAGT1	ORPHA:353327
HP:0009127	Abnormality of the musculature of the limbs	85365	ALG2	ORPHA:353327
HP:0009127	Abnormality of the musculature of the limbs	85365	ALG2	OMIM:616228
HP:0009127	Abnormality of the musculature of the limbs	199857	ALG14	ORPHA:353327
HP:0009127	Abnormality of the musculature of the limbs	10059	DNM1L	ORPHA:98673
HP:0009127	Abnormality of the musculature of the limbs	4976	OPA1	ORPHA:98673
HP:0009127	Abnormality of the musculature of the limbs	6444	SGCD	OMIM:601287
HP:0009127	Abnormality of the musculature of the limbs	6444	SGCD	ORPHA:219
HP:0009127	Abnormality of the musculature of the limbs	2316	FLNA	OMIM:305620
HP:0009127	Abnormality of the musculature of the limbs	2483	FRG1	OMIM:158900
HP:0009127	Abnormality of the musculature of the limbs	55870	ASH1L	OMIM:617796
HP:0009127	Abnormality of the musculature of the limbs	8878	SQSTM1	OMIM:617158
HP:0009127	Abnormality of the musculature of the limbs	311	ANXA11	OMIM:619733
HP:0009127	Abnormality of the musculature of the limbs	4604	MYBPC1	OMIM:618524
HP:0009127	Abnormality of the musculature of the limbs	2138	EYA1	ORPHA:2792
HP:0009127	Abnormality of the musculature of the limbs	2138	EYA1	OMIM:166780
HP:0009127	Abnormality of the musculature of the limbs	5075	PAX1	ORPHA:2792
HP:0009127	Abnormality of the musculature of the limbs	5075	PAX1	OMIM:615560
HP:0009127	Abnormality of the musculature of the limbs	3759	KCNJ2	OMIM:170390
HP:0009127	Abnormality of the musculature of the limbs	5077	PAX3	OMIM:148820
HP:0009127	Abnormality of the musculature of the limbs	4620	MYH2	OMIM:605637
HP:0009127	Abnormality of the musculature of the limbs	80324	PUS1	OMIM:600462
HP:0009127	Abnormality of the musculature of the limbs	83636	C19orf12	OMIM:614298
HP:0009127	Abnormality of the musculature of the limbs	23545	ATP6V0A2	OMIM:278250
HP:0009127	Abnormality of the musculature of the limbs	200734	SPRED2	OMIM:619745
HP:0009127	Abnormality of the musculature of the limbs	9531	BAG3	OMIM:612954
HP:0009127	Abnormality of the musculature of the limbs	2200	FBN1	OMIM:616914
HP:0009127	Abnormality of the musculature of the limbs	55791	LRIF1	OMIM:619477
HP:0009127	Abnormality of the musculature of the limbs	84665	MYPN	OMIM:617336
HP:0009127	Abnormality of the musculature of the limbs	84665	MYPN	ORPHA:171439
HP:0009127	Abnormality of the musculature of the limbs	5781	PTPN11	ORPHA:500
HP:0009127	Abnormality of the musculature of the limbs	5781	PTPN11	OMIM:151100
HP:0009127	Abnormality of the musculature of the limbs	673	BRAF	ORPHA:500
HP:0009127	Abnormality of the musculature of the limbs	5894	RAF1	ORPHA:500
HP:0009127	Abnormality of the musculature of the limbs	7204	TRIO	OMIM:617061
HP:0009127	Abnormality of the musculature of the limbs	10220	GDF11	OMIM:619122
HP:0009127	Abnormality of the musculature of the limbs	163175	LGI4	OMIM:617468
HP:0009127	Abnormality of the musculature of the limbs	56983	POGLUT1	OMIM:617232
HP:0009127	Abnormality of the musculature of the limbs	57479	PRR12	OMIM:619539
HP:0009127	Abnormality of the musculature of the limbs	390594	KBTBD13	ORPHA:171439
HP:0009127	Abnormality of the musculature of the limbs	4703	NEB	ORPHA:171439
HP:0009127	Abnormality of the musculature of the limbs	10324	KLHL41	ORPHA:171439
HP:0009127	Abnormality of the musculature of the limbs	2317	FLNB	OMIM:272460
HP:0009127	Abnormality of the musculature of the limbs	2010	EMD	ORPHA:98863
HP:0009127	Abnormality of the musculature of the limbs	29954	POMT2	ORPHA:206559
HP:0009127	Abnormality of the musculature of the limbs	7043	TGFB3	OMIM:615582
HP:0009127	Abnormality of the musculature of the limbs	10801	SEPTIN9	ORPHA:2901
HP:0009127	Abnormality of the musculature of the limbs	7227	TRPS1	OMIM:190350
HP:0009127	Abnormality of the musculature of the limbs	23224	SYNE2	OMIM:612999
HP:0009127	Abnormality of the musculature of the limbs	23224	SYNE2	ORPHA:98853
HP:0009127	Abnormality of the musculature of the limbs	79188	TMEM43	ORPHA:98853
HP:0009127	Abnormality of the musculature of the limbs	23345	SYNE1	ORPHA:98853
HP:0009127	Abnormality of the musculature of the limbs	5468	PPARG	ORPHA:79083
HP:0009127	Abnormality of the musculature of the limbs	146862	UNC45B	OMIM:619178
HP:0009127	Abnormality of the musculature of the limbs	60	ACTB	ORPHA:64755
HP:0009127	Abnormality of the musculature of the limbs	291	SLC25A4	ORPHA:254892
HP:0009127	Abnormality of the musculature of the limbs	56652	TWNK	ORPHA:254892
HP:0009127	Abnormality of the musculature of the limbs	11232	POLG2	ORPHA:254892
HP:0009127	Abnormality of the musculature of the limbs	50484	RRM2B	ORPHA:254892
HP:0009127	Abnormality of the musculature of the limbs	1756	DMD	ORPHA:206546
HP:0009127	Abnormality of the musculature of the limbs	3339	HSPG2	OMIM:255800
HP:0009127	Abnormality of the musculature of the limbs	1303	COL12A1	ORPHA:610
HP:0009127	Abnormality of the musculature of the limbs	1291	COL6A1	ORPHA:610
HP:0009127	Abnormality of the musculature of the limbs	1292	COL6A2	ORPHA:610
HP:0009127	Abnormality of the musculature of the limbs	1293	COL6A3	ORPHA:610
HP:0009127	Abnormality of the musculature of the limbs	6261	RYR1	ORPHA:597
HP:0009127	Abnormality of the musculature of the limbs	7273	TTN	OMIM:603689
HP:0009127	Abnormality of the musculature of the limbs	1410	CRYAB	OMIM:608810
HP:0009127	Abnormality of the musculature of the limbs	23347	SMCHD1	OMIM:158901
HP:0009127	Abnormality of the musculature of the limbs	1763	DNA2	OMIM:615156
HP:0009127	Abnormality of the musculature of the limbs	5255	PHKA1	OMIM:300559
HP:0009127	Abnormality of the musculature of the limbs	22954	TRIM32	OMIM:254110
HP:0009127	Abnormality of the musculature of the limbs	1716	DGUOK	ORPHA:329314
HP:0009127	Abnormality of the musculature of the limbs	57104	PNPLA2	ORPHA:98908
HP:0009127	Abnormality of the musculature of the limbs	5257	PHKB	ORPHA:79240
HP:0009127	Abnormality of the musculature of the limbs	7415	VCP	OMIM:167320
HP:0009127	Abnormality of the musculature of the limbs	4625	MYH7	OMIM:608358
HP:0009127	Abnormality of the musculature of the limbs	4556	MT-TE	ORPHA:2596
HP:0009127	Abnormality of the musculature of the limbs	6606	SMN1	OMIM:253400
HP:0009127	Abnormality of the musculature of the limbs	6607	SMN2	OMIM:253400
HP:0009127	Abnormality of the musculature of the limbs	10049	DNAJB6	OMIM:603511
HP:0009127	Abnormality of the musculature of the limbs	9499	MYOT	ORPHA:266
HP:0009127	Abnormality of the musculature of the limbs	5339	PLEC	ORPHA:254361
HP:0009127	Abnormality of the musculature of the limbs	79147	FKRP	ORPHA:34515
HP:0009127	Abnormality of the musculature of the limbs	79147	FKRP	OMIM:607155
HP:0009127	Abnormality of the musculature of the limbs	57190	SELENON	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	58	ACTA1	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	4633	MYL2	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	3679	ITGA7	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	7169	TPM2	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	9200	HACD1	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	7170	TPM3	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	51776	MAP3K20	ORPHA:2020
HP:0009127	Abnormality of the musculature of the limbs	54344	DPM3	ORPHA:263494
HP:0009127	Abnormality of the musculature of the limbs	2992	GYG1	OMIM:616199
HP:0009127	Abnormality of the musculature of the limbs	8291	DYSF	ORPHA:45448
HP:0009127	Abnormality of the musculature of the limbs	23534	TNPO3	OMIM:608423
HP:0009127	Abnormality of the musculature of the limbs	6443	SGCB	ORPHA:119
HP:0009127	Abnormality of the musculature of the limbs	203859	ANO5	OMIM:611307
HP:0009127	Abnormality of the musculature of the limbs	9987	HNRNPDL	OMIM:609115
HP:0009127	Abnormality of the musculature of the limbs	257	ALX3	OMIM:136760
HP:0009127	Abnormality of the musculature of the limbs	8092	ALX1	ORPHA:306542
HP:0009127	Abnormality of the musculature of the limbs	87178	PNPT1	ORPHA:319514
HP:0009127	Abnormality of the musculature of the limbs	8242	KDM5C	OMIM:300534
HP:0009127	Abnormality of the musculature of the limbs	23516	SLC39A14	OMIM:617013
HP:0009127	Abnormality of the musculature of the limbs	546	ATRX	OMIM:309580
HP:0009127	Abnormality of the musculature of the limbs	55149	MTPAP	OMIM:613672
HP:0009127	Abnormality of the musculature of the limbs	55149	MTPAP	ORPHA:254343
HP:0009127	Abnormality of the musculature of the limbs	6390	SDHB	ORPHA:3208
HP:0009127	Abnormality of the musculature of the limbs	6392	SDHD	ORPHA:3208
HP:0009127	Abnormality of the musculature of the limbs	644096	SDHAF1	ORPHA:3208
HP:0009127	Abnormality of the musculature of the limbs	7994	KAT6A	OMIM:616268
HP:0009127	Abnormality of the musculature of the limbs	54834	GDAP2	OMIM:618369
HP:0009127	Abnormality of the musculature of the limbs	23028	KDM1A	OMIM:616728
HP:0009127	Abnormality of the musculature of the limbs	23028	KDM1A	ORPHA:477993
HP:0009127	Abnormality of the musculature of the limbs	84188	FAR1	ORPHA:447753
HP:0009127	Abnormality of the musculature of the limbs	171023	ASXL1	ORPHA:97297
HP:0009127	Abnormality of the musculature of the limbs	100147744	RNU7-1	OMIM:619487
HP:0009127	Abnormality of the musculature of the limbs	5917	RARS1	ORPHA:438114
HP:0009127	Abnormality of the musculature of the limbs	283989	TSEN54	ORPHA:2524
HP:0009127	Abnormality of the musculature of the limbs	116461	TSEN15	ORPHA:2524
HP:0009127	Abnormality of the musculature of the limbs	79042	TSEN34	ORPHA:2524
HP:0009127	Abnormality of the musculature of the limbs	51091	SEPSECS	ORPHA:2524
HP:0009127	Abnormality of the musculature of the limbs	4552	MTRR	ORPHA:2169
HP:0009127	Abnormality of the musculature of the limbs	5010	CLDN11	OMIM:619328
HP:0009127	Abnormality of the musculature of the limbs	137492	VPS37A	OMIM:614898
HP:0009127	Abnormality of the musculature of the limbs	5277	PIGA	OMIM:301072
HP:0009127	Abnormality of the musculature of the limbs	55343	SLC35C1	ORPHA:99843
HP:0009127	Abnormality of the musculature of the limbs	7143	TNR	OMIM:619653
HP:0009127	Abnormality of the musculature of the limbs	65250	CPLANE1	ORPHA:65684
HP:0009127	Abnormality of the musculature of the limbs	57562	CEP126	ORPHA:65684
HP:0009127	Abnormality of the musculature of the limbs	64423	INF2	OMIM:614455
HP:0009127	Abnormality of the musculature of the limbs	4524	MTHFR	ORPHA:395
HP:0009127	Abnormality of the musculature of the limbs	80821	DDHD1	OMIM:609340
HP:0009127	Abnormality of the musculature of the limbs	80821	DDHD1	ORPHA:101008
HP:0009127	Abnormality of the musculature of the limbs	1593	CYP27A1	OMIM:213700
HP:0009127	Abnormality of the musculature of the limbs	123606	NIPA1	OMIM:600363
HP:0009127	Abnormality of the musculature of the limbs	55187	VPS13D	OMIM:607317
HP:0009127	Abnormality of the musculature of the limbs	81790	RNF170	OMIM:619686
HP:0009127	Abnormality of the musculature of the limbs	518	ATP5MC3	OMIM:619681
HP:0009127	Abnormality of the musculature of the limbs	3897	L1CAM	ORPHA:306617
HP:0009127	Abnormality of the musculature of the limbs	51324	SPG21	OMIM:248900
HP:0009127	Abnormality of the musculature of the limbs	51324	SPG21	ORPHA:101001
HP:0009127	Abnormality of the musculature of the limbs	51116	MRPS2	OMIM:617950
HP:0009127	Abnormality of the musculature of the limbs	9692	PRORP	OMIM:619737
HP:0009127	Abnormality of the musculature of the limbs	118813	ZFYVE27	OMIM:610244
HP:0009127	Abnormality of the musculature of the limbs	10939	AFG3L2	ORPHA:313772
HP:0009127	Abnormality of the musculature of the limbs	10939	AFG3L2	OMIM:614487
HP:0009127	Abnormality of the musculature of the limbs	823	CAPN1	OMIM:616907
HP:0009127	Abnormality of the musculature of the limbs	823	CAPN1	ORPHA:488594
HP:0009127	Abnormality of the musculature of the limbs	857	CAV1	OMIM:606721
HP:0009127	Abnormality of the musculature of the limbs	11160	ERLIN2	OMIM:611225
HP:0009127	Abnormality of the musculature of the limbs	84668	HYCC1	OMIM:610532
HP:0009127	Abnormality of the musculature of the limbs	9907	AP5Z1	OMIM:613647
HP:0009127	Abnormality of the musculature of the limbs	9907	AP5Z1	ORPHA:306511
HP:0009127	Abnormality of the musculature of the limbs	2313	FLI1	ORPHA:370348
HP:0009127	Abnormality of the musculature of the limbs	5621	PRNP	ORPHA:356
HP:0009127	Abnormality of the musculature of the limbs	5621	PRNP	OMIM:137440
HP:0009127	Abnormality of the musculature of the limbs	79784	MYH14	ORPHA:397744
HP:0009127	Abnormality of the musculature of the limbs	9197	SLC33A1	ORPHA:171863
HP:0009127	Abnormality of the musculature of the limbs	3839	KPNA3	OMIM:620106
HP:0009127	Abnormality of the musculature of the limbs	3839	KPNA3	ORPHA:171612
HP:0009127	Abnormality of the musculature of the limbs	3032	HADHB	ORPHA:746
HP:0009127	Abnormality of the musculature of the limbs	3030	HADHA	ORPHA:746
HP:0009127	Abnormality of the musculature of the limbs	100134444	KCNJ18	ORPHA:79102
HP:0009127	Abnormality of the musculature of the limbs	2556	GABRA3	ORPHA:79102
HP:0009127	Abnormality of the musculature of the limbs	779	CACNA1S	ORPHA:79102
HP:0009127	Abnormality of the musculature of the limbs	3766	KCNJ10	ORPHA:199343
HP:0009127	Abnormality of the musculature of the limbs	4763	NF1	OMIM:162210
HP:0009127	Abnormality of the musculature of the limbs	6253	RTN2	OMIM:604805
HP:0009127	Abnormality of the musculature of the limbs	6253	RTN2	ORPHA:100993
HP:0009127	Abnormality of the musculature of the limbs	427	ASAH1	ORPHA:2590
HP:0009127	Abnormality of the musculature of the limbs	3329	HSPD1	OMIM:605280
HP:0009127	Abnormality of the musculature of the limbs	3329	HSPD1	ORPHA:100994
HP:0009127	Abnormality of the musculature of the limbs	5354	PLP1	OMIM:312920
HP:0009127	Abnormality of the musculature of the limbs	51271	UBAP1	ORPHA:100993
HP:0009127	Abnormality of the musculature of the limbs	6885	MAP3K7	ORPHA:1826
HP:0009127	Abnormality of the musculature of the limbs	9939	RBM8A	OMIM:274000
HP:0009127	Abnormality of the musculature of the limbs	55768	NGLY1	OMIM:615273
HP:0009127	Abnormality of the musculature of the limbs	23321	TRIM2	OMIM:615490
HP:0009127	Abnormality of the musculature of the limbs	374969	SVBP	OMIM:618569
HP:0009127	Abnormality of the musculature of the limbs	1678	TIMM8A	OMIM:304700
HP:0009127	Abnormality of the musculature of the limbs	2201	FBN2	OMIM:121050
HP:0009127	Abnormality of the musculature of the limbs	6736	SRY	ORPHA:1772
HP:0009127	Abnormality of the musculature of the limbs	5921	RASA1	ORPHA:90307
HP:0009127	Abnormality of the musculature of the limbs	1180	CLCN1	OMIM:255700
HP:0009127	Abnormality of the musculature of the limbs	9829	DNAJC6	ORPHA:391411
HP:0009127	Abnormality of the musculature of the limbs	5420	PODXL	ORPHA:391411
HP:0009127	Abnormality of the musculature of the limbs	8867	SYNJ1	ORPHA:391411
HP:0009127	Abnormality of the musculature of the limbs	8867	SYNJ1	OMIM:615530
HP:0009127	Abnormality of the musculature of the limbs	55129	ANO10	ORPHA:284289
HP:0009127	Abnormality of the musculature of the limbs	5297	PI4KA	OMIM:619621
HP:0009127	Abnormality of the musculature of the limbs	6683	SPAST	ORPHA:100985
HP:0009127	Abnormality of the musculature of the limbs	23400	ATP13A2	ORPHA:306674
HP:0009127	Abnormality of the musculature of the limbs	23400	ATP13A2	OMIM:606693
HP:0009127	Abnormality of the musculature of the limbs	55157	DARS2	ORPHA:137898
HP:0009127	Abnormality of the musculature of the limbs	10367	MICU1	OMIM:615673
HP:0009127	Abnormality of the musculature of the limbs	5346	PLIN1	ORPHA:280356
HP:0009127	Abnormality of the musculature of the limbs	63924	CIDEC	ORPHA:435651
HP:0009127	Abnormality of the musculature of the limbs	3736	KCNA1	ORPHA:37612
HP:0009127	Abnormality of the musculature of the limbs	55624	POMGNT1	OMIM:613157
HP:0009127	Abnormality of the musculature of the limbs	55679	LIMS2	OMIM:616827
HP:0009127	Abnormality of the musculature of the limbs	84892	POMGNT2	OMIM:618135
HP:0009127	Abnormality of the musculature of the limbs	8449	DHX16	OMIM:618733
HP:0009127	Abnormality of the musculature of the limbs	8425	LTBP4	ORPHA:98896
HP:0009127	Abnormality of the musculature of the limbs	23312	DMXL2	ORPHA:453533
HP:0009127	Abnormality of the musculature of the limbs	3991	LIPE	ORPHA:435660
HP:0009127	Abnormality of the musculature of the limbs	203547	VMA21	OMIM:310440
HP:0009127	Abnormality of the musculature of the limbs	4618	MYF6	ORPHA:169189
HP:0009127	Abnormality of the musculature of the limbs	23556	PIGN	ORPHA:280633
HP:0009127	Abnormality of the musculature of the limbs	64208	POPDC3	OMIM:618848
HP:0009127	Abnormality of the musculature of the limbs	3178	HNRNPA1	OMIM:615424
HP:0009127	Abnormality of the musculature of the limbs	3908	LAMA2	OMIM:618138
HP:0009127	Abnormality of the musculature of the limbs	1371	CPOX	ORPHA:79273
HP:0009127	Abnormality of the musculature of the limbs	90523	MLIP	OMIM:620138
HP:0009127	Abnormality of the musculature of the limbs	3145	HMBS	ORPHA:79276
HP:0009127	Abnormality of the musculature of the limbs	339855	KY	ORPHA:496689
HP:0009127	Abnormality of the musculature of the limbs	23175	LPIN1	ORPHA:99845
HP:0009127	Abnormality of the musculature of the limbs	4512	MT-CO1	ORPHA:99845
HP:0009127	Abnormality of the musculature of the limbs	4514	MT-CO3	ORPHA:99845
HP:0009127	Abnormality of the musculature of the limbs	5498	PPOX	ORPHA:79473
HP:0009127	Abnormality of the musculature of the limbs	11155	LDB3	ORPHA:98912
HP:0009127	Abnormality of the musculature of the limbs	389827	MYMK	OMIM:254940
HP:0009127	Abnormality of the musculature of the limbs	6786	STIM1	OMIM:160565
HP:0009127	Abnormality of the musculature of the limbs	10743	RAI1	ORPHA:477817
HP:0009127	Abnormality of the musculature of the limbs	6905	TBCE	ORPHA:496756
HP:0009127	Abnormality of the musculature of the limbs	6905	TBCE	OMIM:617207
HP:0009127	Abnormality of the musculature of the limbs	84876	ORAI1	OMIM:615883
HP:0009127	Abnormality of the musculature of the limbs	90678	LRSAM1	OMIM:614436
HP:0009127	Abnormality of the musculature of the limbs	1130	LYST	OMIM:214500
HP:0009127	Abnormality of the musculature of the limbs	1890	TYMP	ORPHA:298
HP:0009127	Abnormality of the musculature of the limbs	3980	LIG3	ORPHA:298
HP:0009127	Abnormality of the musculature of the limbs	8888	MCM3AP	OMIM:618124
HP:0009127	Abnormality of the musculature of the limbs	4358	MPV17	OMIM:618400
HP:0009127	Abnormality of the musculature of the limbs	5832	ALDH18A1	OMIM:616586
HP:0009127	Abnormality of the musculature of the limbs	116228	COX20	OMIM:619054
HP:0009127	Abnormality of the musculature of the limbs	29967	LRP12	OMIM:164310
HP:0009127	Abnormality of the musculature of the limbs	3735	KARS1	OMIM:613641
HP:0009127	Abnormality of the musculature of the limbs	88	ACTN2	OMIM:618655
HP:0009127	Abnormality of the musculature of the limbs	2783	GNB2	OMIM:619503
HP:0009127	Abnormality of the musculature of the limbs	89874	SLC25A21	OMIM:618811
HP:0009127	Abnormality of the musculature of the limbs	10558	SPTLC1	ORPHA:36386
HP:0009127	Abnormality of the musculature of the limbs	25923	ATL3	ORPHA:36386
HP:0009127	Abnormality of the musculature of the limbs	476	ATP1A1	OMIM:618036
HP:0009127	Abnormality of the musculature of the limbs	79152	FA2H	ORPHA:171629
HP:0009127	Abnormality of the musculature of the limbs	10280	SIGMAR1	OMIM:605726
HP:0009127	Abnormality of the musculature of the limbs	3300	DNAJB2	OMIM:614881
HP:0009127	Abnormality of the musculature of the limbs	3930	LBR	OMIM:169400
HP:0009127	Abnormality of the musculature of the limbs	9997	SCO2	ORPHA:521411
HP:0009127	Abnormality of the musculature of the limbs	16	AARS1	OMIM:613287
HP:0009127	Abnormality of the musculature of the limbs	1337	COX6A1	OMIM:616039
HP:0009127	Abnormality of the musculature of the limbs	9897	WASHC5	ORPHA:100989
HP:0009127	Abnormality of the musculature of the limbs	26278	SACS	OMIM:270550
HP:0009127	Abnormality of the musculature of the limbs	122622	ADSS1	ORPHA:482601
HP:0009127	Abnormality of the musculature of the limbs	2137	EXTL3	ORPHA:508533
HP:0009127	Abnormality of the musculature of the limbs	51062	ATL1	ORPHA:100984
HP:0009127	Abnormality of the musculature of the limbs	10020	GNE	OMIM:605820
HP:0009127	Abnormality of the musculature of the limbs	3094	HINT1	ORPHA:324442
HP:0009127	Abnormality of the musculature of the limbs	4137	MAPT	ORPHA:240094
HP:0009127	Abnormality of the musculature of the limbs	9782	MATR3	OMIM:606070
HP:0009127	Abnormality of the musculature of the limbs	4311	MME	OMIM:617017
HP:0009127	Abnormality of the musculature of the limbs	4311	MME	ORPHA:497764
HP:0009127	Abnormality of the musculature of the limbs	11284	PNKP	ORPHA:459033
HP:0009127	Abnormality of the musculature of the limbs	55775	TDP1	ORPHA:94124
HP:0009127	Abnormality of the musculature of the limbs	7879	RAB7A	OMIM:600882
HP:0009127	Abnormality of the musculature of the limbs	200205	IBA57	ORPHA:468661
HP:0009127	Abnormality of the musculature of the limbs	3714	JAG2	OMIM:619566
HP:0009127	Abnormality of the musculature of the limbs	6652	SORD	OMIM:618912
HP:0009127	Abnormality of the musculature of the limbs	79048	SECISBP2	ORPHA:171706
HP:0009127	Abnormality of the musculature of the limbs	3035	HARS1	ORPHA:488333
HP:0009127	Abnormality of the musculature of the limbs	3315	HSPB1	OMIM:608634
HP:0009127	Abnormality of the musculature of the limbs	215	ABCD1	ORPHA:139399
HP:0009127	Abnormality of the musculature of the limbs	10908	PNPLA6	OMIM:612020
HP:0009127	Abnormality of the musculature of the limbs	64856	VWA1	OMIM:619216
HP:0009127	Abnormality of the musculature of the limbs	4547	MTTP	ORPHA:14
HP:0009127	Abnormality of the musculature of the limbs	8557	TCAP	OMIM:601954
HP:0009127	Abnormality of the musculature of the limbs	2705	GJB1	OMIM:302800
HP:0009127	Abnormality of the musculature of the limbs	547	KIF1A	OMIM:614213
HP:0009127	Abnormality of the musculature of the limbs	9517	SPTLC2	OMIM:613640
HP:0009127	Abnormality of the musculature of the limbs	8884	SLC5A6	OMIM:619903
HP:0009127	Abnormality of the musculature of the limbs	7453	WARS1	OMIM:617721
HP:0009127	Abnormality of the musculature of the limbs	55526	DHTKD1	OMIM:615025
HP:0009127	Abnormality of the musculature of the limbs	9131	AIFM1	OMIM:310490
HP:0009127	Abnormality of the musculature of the limbs	5376	PMP22	ORPHA:90658
HP:0009127	Abnormality of the musculature of the limbs	5376	PMP22	ORPHA:98916
HP:0009127	Abnormality of the musculature of the limbs	5376	PMP22	OMIM:145900
HP:0009127	Abnormality of the musculature of the limbs	10755	GIPC1	ORPHA:98897
HP:0009127	Abnormality of the musculature of the limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0009127	Abnormality of the musculature of the limbs	23259	DDHD2	OMIM:615033
HP:0009127	Abnormality of the musculature of the limbs	8988	HSPB3	OMIM:613376
HP:0009127	Abnormality of the musculature of the limbs	2318	FLNC	ORPHA:63273
HP:0009127	Abnormality of the musculature of the limbs	400916	CHCHD10	ORPHA:457050
HP:0009127	Abnormality of the musculature of the limbs	400916	CHCHD10	ORPHA:276435
HP:0009127	Abnormality of the musculature of the limbs	9990	SLC12A6	OMIM:620068
HP:0009127	Abnormality of the musculature of the limbs	1785	DNM2	OMIM:160150
HP:0009127	Abnormality of the musculature of the limbs	64419	MTMR14	OMIM:160150
HP:0009127	Abnormality of the musculature of the limbs	5375	PMP2	OMIM:618279
HP:0009127	Abnormality of the musculature of the limbs	10516	FBLN5	OMIM:619764
HP:0009127	Abnormality of the musculature of the limbs	60482	SLC5A7	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	4649	MYO9A	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	1103	CHAT	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	6576	SLC25A1	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	6843	VAMP1	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	127833	SYT2	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	6572	SLC18A3	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	6616	SNAP25	ORPHA:98914
HP:0009127	Abnormality of the musculature of the limbs	26353	HSPB8	OMIM:158590
HP:0009127	Abnormality of the musculature of the limbs	23299	BICD2	OMIM:615290
HP:0009127	Abnormality of the musculature of the limbs	11117	EMILIN1	OMIM:620080
HP:0009127	Abnormality of the musculature of the limbs	1674	DES	ORPHA:98909
HP:0009127	Abnormality of the musculature of the limbs	80208	SPG11	OMIM:616668
HP:0009127	Abnormality of the musculature of the limbs	81846	SBF2	ORPHA:99956
HP:0009127	Abnormality of the musculature of the limbs	57410	SCYL1	ORPHA:466794
HP:0009127	Abnormality of the musculature of the limbs	3098	HK1	ORPHA:99953
HP:0009127	Abnormality of the musculature of the limbs	3098	HK1	OMIM:605285
HP:0009127	Abnormality of the musculature of the limbs	126129	CPT1C	ORPHA:444099
HP:0009127	Abnormality of the musculature of the limbs	10397	NDRG1	ORPHA:99950
HP:0009127	Abnormality of the musculature of the limbs	23676	SMPX	OMIM:301075
HP:0009127	Abnormality of the musculature of the limbs	59345	GNB4	OMIM:615185
HP:0009127	Abnormality of the musculature of the limbs	29925	GMPPB	ORPHA:363623
HP:0009127	Abnormality of the musculature of the limbs	57716	PRX	OMIM:145900
HP:0009127	Abnormality of the musculature of the limbs	9927	MFN2	ORPHA:99947
HP:0009127	Abnormality of the musculature of the limbs	2273	FHL1	OMIM:300695
HP:0009127	Abnormality of the musculature of the limbs	825	CAPN3	ORPHA:267
HP:0009127	Abnormality of the musculature of the limbs	2218	FKTN	OMIM:611588
HP:0009127	Abnormality of the musculature of the limbs	59341	TRPV4	OMIM:181405
HP:0009127	Abnormality of the musculature of the limbs	2050	EPHB4	ORPHA:137667
HP:0009127	Abnormality of the musculature of the limbs	284058	KANSL1	ORPHA:363965
HP:0009127	Abnormality of the musculature of the limbs	284058	KANSL1	ORPHA:363958
HP:0009127	Abnormality of the musculature of the limbs	57679	ALS2	OMIM:205100
HP:0009127	Abnormality of the musculature of the limbs	113278	SLC52A3	OMIM:211530
HP:0009127	Abnormality of the musculature of the limbs	2395	FXN	ORPHA:95
HP:0009127	Abnormality of the musculature of the limbs	5980	REV3L	ORPHA:570
HP:0009127	Abnormality of the musculature of the limbs	23129	PLXND1	ORPHA:570
HP:0009127	Abnormality of the musculature of the limbs	6926	TBX3	ORPHA:3138
HP:0009127	Abnormality of the musculature of the limbs	101929726	MYMX	ORPHA:1358
HP:0009127	Abnormality of the musculature of the limbs	4010	LMX1B	OMIM:161200
HP:0009127	Abnormality of the musculature of the limbs	6135	RPL11	OMIM:612562
HP:0009127	Abnormality of the musculature of the limbs	9775	EIF4A3	OMIM:268305
HP:0009127	Abnormality of the musculature of the limbs	1757	SARDH	ORPHA:3129
HP:0009127	Abnormality of the musculature of the limbs	4141	MARS1	OMIM:616280
HP:0009127	Abnormality of the musculature of the limbs	859	CAV3	OMIM:614321
HP:0009127	Abnormality of the musculature of the limbs	5165	PDK3	OMIM:300905
HP:0009127	Abnormality of the musculature of the limbs	1639	DCTN1	OMIM:607641
HP:0009127	Abnormality of the musculature of the limbs	7084	TK2	ORPHA:254886
HP:0009127	Abnormality of the musculature of the limbs	5428	POLG	ORPHA:254886
HP:0009127	Abnormality of the musculature of the limbs	8292	COLQ	ORPHA:98915
HP:0009127	Abnormality of the musculature of the limbs	3913	LAMB2	ORPHA:98915
HP:0009127	Abnormality of the musculature of the limbs	57167	SALL4	OMIM:147750
HP:0009127	Abnormality of the musculature of the limbs	81545	FBXO38	OMIM:615575
HP:0009127	Abnormality of the musculature of the limbs	182	JAG1	OMIM:619574
HP:0009127	Abnormality of the musculature of the limbs	57863	CADM3	OMIM:619519
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	2316	FLNA	ORPHA:1826
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	6885	MAP3K7	ORPHA:1826
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	9939	RBM8A	OMIM:274000
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	57167	SALL4	OMIM:607323
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	4010	LMX1B	OMIM:161200
HP:0012180	Cystic medial necrosis	4629	MYH11	OMIM:132900
HP:0012180	Cystic medial necrosis	7046	TGFBR1	ORPHA:91387
HP:0012180	Cystic medial necrosis	7048	TGFBR2	ORPHA:91387
HP:0012180	Cystic medial necrosis	4015	LOX	ORPHA:91387
HP:0012180	Cystic medial necrosis	4087	SMAD2	ORPHA:91387
HP:0012180	Cystic medial necrosis	7043	TGFB3	ORPHA:91387
HP:0012180	Cystic medial necrosis	4088	SMAD3	ORPHA:91387
HP:0012180	Cystic medial necrosis	7042	TGFB2	ORPHA:91387
HP:0012180	Cystic medial necrosis	4089	SMAD4	ORPHA:91387
HP:0012180	Cystic medial necrosis	2200	FBN1	ORPHA:91387
HP:0012180	Cystic medial necrosis	59	ACTA2	ORPHA:91387
HP:0012180	Cystic medial necrosis	5592	PRKG1	ORPHA:91387
HP:0012180	Cystic medial necrosis	2301	FOXE3	ORPHA:91387
HP:0012180	Cystic medial necrosis	4144	MAT2A	ORPHA:91387
HP:0012180	Cystic medial necrosis	23493	HEY2	ORPHA:91387
HP:0012180	Cystic medial necrosis	8076	MFAP5	ORPHA:91387
HP:0012180	Cystic medial necrosis	4638	MYLK	ORPHA:91387
HP:0012180	Cystic medial necrosis	2006	ELN	ORPHA:91387
HP:0012181	Entrapment neuropathy	760	CA2	ORPHA:2785
HP:0012181	Entrapment neuropathy	1311	COMP	OMIM:619161
HP:0012181	Entrapment neuropathy	7276	TTR	ORPHA:85447
HP:0012181	Entrapment neuropathy	7276	TTR	OMIM:115430
HP:0012181	Entrapment neuropathy	7276	TTR	ORPHA:85451
HP:0012181	Entrapment neuropathy	7276	TTR	OMIM:105210
HP:0012181	Entrapment neuropathy	2934	GSN	ORPHA:85448
HP:0012181	Entrapment neuropathy	79628	SH3TC2	OMIM:613353
HP:0012181	Entrapment neuropathy	3423	IDS	ORPHA:217085
HP:0012181	Entrapment neuropathy	3423	IDS	ORPHA:217093
HP:0012181	Entrapment neuropathy	79158	GNPTAB	OMIM:252600
HP:0012181	Entrapment neuropathy	3425	IDUA	OMIM:607014
HP:0012181	Entrapment neuropathy	3425	IDUA	OMIM:607016
HP:0012181	Entrapment neuropathy	2778	GNAS	ORPHA:79443
HP:0012181	Entrapment neuropathy	2778	GNAS	ORPHA:79444
HP:0012181	Entrapment neuropathy	567	B2M	ORPHA:314652
HP:0012181	Entrapment neuropathy	411	ARSB	OMIM:253200
HP:0012182	Oropharyngeal squamous cell carcinoma	545	ATR	OMIM:614564
HP:0012182	Oropharyngeal squamous cell carcinoma	6772	STAT1	ORPHA:391487
HP:0012182	Oropharyngeal squamous cell carcinoma	10043	TOM1	ORPHA:391487
HP:0012182	Oropharyngeal squamous cell carcinoma	1736	DKC1	OMIM:305000
HP:0012182	Oropharyngeal squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0012182	Oropharyngeal squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0012182	Oropharyngeal squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0012183	Hyperplastic colonic polyposis	657	BMPR1A	OMIM:610069
HP:0012183	Hyperplastic colonic polyposis	657	BMPR1A	ORPHA:157794
HP:0012183	Hyperplastic colonic polyposis	26585	GREM1	ORPHA:157794
HP:0012184	Increased HDL cholesterol concentration	3990	LIPC	OMIM:614025
HP:0012184	Increased HDL cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0012184	Increased HDL cholesterol concentration	1071	CETP	ORPHA:79506
HP:0012184	Increased HDL cholesterol concentration	1071	CETP	OMIM:143470
HP:0012184	Increased HDL cholesterol concentration	345	APOC3	ORPHA:79506
HP:0012184	Increased HDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0012185	Constrictive median neuropathy	1311	COMP	OMIM:619161
HP:0012185	Constrictive median neuropathy	7276	TTR	ORPHA:85447
HP:0012185	Constrictive median neuropathy	7276	TTR	OMIM:115430
HP:0012185	Constrictive median neuropathy	7276	TTR	ORPHA:85451
HP:0012185	Constrictive median neuropathy	7276	TTR	OMIM:105210
HP:0012185	Constrictive median neuropathy	2934	GSN	ORPHA:85448
HP:0012185	Constrictive median neuropathy	79628	SH3TC2	OMIM:613353
HP:0012185	Constrictive median neuropathy	3423	IDS	ORPHA:217085
HP:0012185	Constrictive median neuropathy	3423	IDS	ORPHA:217093
HP:0012185	Constrictive median neuropathy	79158	GNPTAB	OMIM:252600
HP:0012185	Constrictive median neuropathy	3425	IDUA	OMIM:607014
HP:0012185	Constrictive median neuropathy	3425	IDUA	OMIM:607016
HP:0012185	Constrictive median neuropathy	2778	GNAS	ORPHA:79443
HP:0012185	Constrictive median neuropathy	2778	GNAS	ORPHA:79444
HP:0012185	Constrictive median neuropathy	567	B2M	ORPHA:314652
HP:0012185	Constrictive median neuropathy	411	ARSB	OMIM:253200
HP:0012187	Increased erythrocyte protoporphyrin concentration	210	ALAD	ORPHA:100924
HP:0012187	Increased erythrocyte protoporphyrin concentration	10845	CLPX	OMIM:618015
HP:0012187	Increased erythrocyte protoporphyrin concentration	7390	UROS	ORPHA:79277
HP:0012187	Increased erythrocyte protoporphyrin concentration	2623	GATA1	ORPHA:79277
HP:0012187	Increased erythrocyte protoporphyrin concentration	212	ALAS2	OMIM:300752
HP:0012189	Hodgkin lymphoma	970	CD70	OMIM:618261
HP:0012189	Hodgkin lymphoma	355	FAS	ORPHA:3261
HP:0012189	Hodgkin lymphoma	356	FASLG	ORPHA:3261
HP:0012189	Hodgkin lymphoma	5580	PRKCD	ORPHA:3261
HP:0012189	Hodgkin lymphoma	843	CASP10	ORPHA:3261
HP:0012189	Hodgkin lymphoma	10125	RASGRP1	ORPHA:3261
HP:0012189	Hodgkin lymphoma	84061	MAGT1	OMIM:300853
HP:0012189	Hodgkin lymphoma	54894	RNF43	ORPHA:157798
HP:0012189	Hodgkin lymphoma	939	CD27	OMIM:615122
HP:0012189	Hodgkin lymphoma	3702	ITK	OMIM:613011
HP:0012189	Hodgkin lymphoma	50619	DEF6	OMIM:619573
HP:0012189	Hodgkin lymphoma	8651	SOCS1	OMIM:619375
HP:0012189	Hodgkin lymphoma	6774	STAT3	OMIM:615952
HP:0012189	Hodgkin lymphoma	472	ATM	OMIM:208900
HP:0012189	Hodgkin lymphoma	5426	POLE	OMIM:618336
HP:0012189	Hodgkin lymphoma	5238	PGM3	OMIM:615816
HP:0012189	Hodgkin lymphoma	1736	DKC1	OMIM:305000
HP:0012189	Hodgkin lymphoma	6925	TCF4	ORPHA:2896
HP:0012189	Hodgkin lymphoma	200942	KLHDC8B	OMIM:236000
HP:0012189	Hodgkin lymphoma	7373	COL14A1	ORPHA:79501
HP:0012189	Hodgkin lymphoma	79719	AAGAB	ORPHA:79501
HP:0012189	Hodgkin lymphoma	7157	TP53	ORPHA:524
HP:0012189	Hodgkin lymphoma	1029	CDKN2A	ORPHA:524
HP:0012189	Hodgkin lymphoma	4193	MDM2	ORPHA:524
HP:0012189	Hodgkin lymphoma	11200	CHEK2	ORPHA:524
HP:0009131	Abnormality of the musculature of the thorax	4010	LMX1B	OMIM:161200
HP:0009131	Abnormality of the musculature of the thorax	57167	SALL4	OMIM:147750
HP:0009131	Abnormality of the musculature of the thorax	825	CAPN3	ORPHA:267
HP:0009132	Abnormal tarsal bone mineral density	10682	EBP	OMIM:302960
HP:0009132	Abnormal tarsal bone mineral density	23592	LEMD3	ORPHA:166119
HP:0009132	Abnormal tarsal bone mineral density	55768	NGLY1	ORPHA:404454
HP:0010675	Abnormal foot bone ossification	2316	FLNA	OMIM:304120
HP:0010675	Abnormal foot bone ossification	5745	PTH1R	OMIM:600002
HP:0010675	Abnormal foot bone ossification	3209	HOXA13	OMIM:140000
HP:0010675	Abnormal foot bone ossification	4148	MATN3	OMIM:607078
HP:0010675	Abnormal foot bone ossification	23169	SLC35D1	OMIM:269250
HP:0010675	Abnormal foot bone ossification	23169	SLC35D1	ORPHA:3144
HP:0010675	Abnormal foot bone ossification	3636	INPPL1	ORPHA:3144
HP:0010675	Abnormal foot bone ossification	124583	CANT1	OMIM:251450
HP:0010675	Abnormal foot bone ossification	10682	EBP	OMIM:302960
HP:0010675	Abnormal foot bone ossification	9451	EIF2AK3	OMIM:226980
HP:0010675	Abnormal foot bone ossification	1280	COL2A1	OMIM:183900
HP:0010675	Abnormal foot bone ossification	9321	TRIP11	OMIM:200600
HP:0009134	Osteolysis involving bones of the feet	9935	MAFB	OMIM:166300
HP:0009134	Osteolysis involving bones of the feet	4313	MMP2	OMIM:259600
HP:0009134	Osteolysis involving bones of the feet	1281	COL3A1	OMIM:130050
HP:0009134	Osteolysis involving bones of the feet	6335	SCN9A	ORPHA:970
HP:0009134	Osteolysis involving bones of the feet	6335	SCN9A	OMIM:201300
HP:0009134	Osteolysis involving bones of the feet	65125	WNK1	ORPHA:970
HP:0009134	Osteolysis involving bones of the feet	65125	WNK1	OMIM:201300
HP:0009134	Osteolysis involving bones of the feet	54463	RETREG1	ORPHA:970
HP:0009134	Osteolysis involving bones of the feet	54463	RETREG1	OMIM:201300
HP:0009134	Osteolysis involving bones of the feet	547	KIF1A	ORPHA:970
HP:0009134	Osteolysis involving bones of the feet	547	KIF1A	OMIM:201300
HP:0009134	Osteolysis involving bones of the feet	4853	NOTCH2	OMIM:102500
HP:0009134	Osteolysis involving bones of the feet	4000	LMNA	ORPHA:280365
HP:0009134	Osteolysis involving bones of the feet	4000	LMNA	OMIM:248370
HP:0009134	Osteolysis involving bones of the feet	4000	LMNA	ORPHA:90153
HP:0009134	Osteolysis involving bones of the feet	10269	ZMPSTE24	OMIM:608612
HP:0009134	Osteolysis involving bones of the feet	10269	ZMPSTE24	ORPHA:90154
HP:0009134	Osteolysis involving bones of the feet	10651	MTX2	ORPHA:90153
HP:0009134	Osteolysis involving bones of the feet	4323	MMP14	ORPHA:371428
HP:0009134	Osteolysis involving bones of the feet	4323	MMP14	OMIM:277950
HP:0009134	Osteolysis involving bones of the feet	427	ASAH1	OMIM:228000
HP:0001829	Foot polydactyly	79600	TCTN1	ORPHA:475
HP:0001829	Foot polydactyly	79848	CSPP1	ORPHA:475
HP:0001829	Foot polydactyly	51684	SUFU	ORPHA:475
HP:0001829	Foot polydactyly	54806	AHI1	ORPHA:475
HP:0001829	Foot polydactyly	54806	AHI1	ORPHA:220493
HP:0001829	Foot polydactyly	153241	CEP120	ORPHA:475
HP:0001829	Foot polydactyly	153241	CEP120	ORPHA:220493
HP:0001829	Foot polydactyly	65250	CPLANE1	ORPHA:475
HP:0001829	Foot polydactyly	65250	CPLANE1	ORPHA:2754
HP:0001829	Foot polydactyly	91147	TMEM67	ORPHA:475
HP:0001829	Foot polydactyly	200894	ARL13B	ORPHA:475
HP:0001829	Foot polydactyly	9731	CEP104	ORPHA:475
HP:0001829	Foot polydactyly	219844	HYLS1	ORPHA:475
HP:0001829	Foot polydactyly	23247	KATNIP	ORPHA:475
HP:0001829	Foot polydactyly	219854	TMEM218	ORPHA:475
HP:0001829	Foot polydactyly	54903	MKS1	ORPHA:475
HP:0001829	Foot polydactyly	54903	MKS1	OMIM:249000
HP:0001829	Foot polydactyly	54903	MKS1	ORPHA:220493
HP:0001829	Foot polydactyly	95681	CEP41	ORPHA:475
HP:0001829	Foot polydactyly	95681	CEP41	ORPHA:220493
HP:0001829	Foot polydactyly	9786	KIAA0586	ORPHA:475
HP:0001829	Foot polydactyly	56623	INPP5E	ORPHA:475
HP:0001829	Foot polydactyly	56623	INPP5E	ORPHA:220493
HP:0001829	Foot polydactyly	79867	TCTN2	ORPHA:475
HP:0001829	Foot polydactyly	80776	B9D2	ORPHA:475
HP:0001829	Foot polydactyly	10464	PIBF1	ORPHA:475
HP:0001829	Foot polydactyly	80210	ARMC9	ORPHA:475
HP:0001829	Foot polydactyly	23116	TOGARAM1	ORPHA:475
HP:0001829	Foot polydactyly	25776	CBY1	ORPHA:475
HP:0001829	Foot polydactyly	27077	B9D1	ORPHA:475
HP:0001829	Foot polydactyly	403	ARL3	ORPHA:475
HP:0001829	Foot polydactyly	65062	TMEM237	ORPHA:475
HP:0001829	Foot polydactyly	65062	TMEM237	ORPHA:2318
HP:0001829	Foot polydactyly	5290	PIK3CA	ORPHA:276280
HP:0001829	Foot polydactyly	5290	PIK3CA	ORPHA:60040
HP:0001829	Foot polydactyly	64840	PORCN	OMIM:305600
HP:0001829	Foot polydactyly	84100	ARL6	OMIM:209900
HP:0001829	Foot polydactyly	79140	CCDC28B	OMIM:209900
HP:0001829	Foot polydactyly	582	BBS1	OMIM:209900
HP:0001829	Foot polydactyly	5590	PRKCZ	ORPHA:1606
HP:0001829	Foot polydactyly	2563	GABRD	ORPHA:1606
HP:0001829	Foot polydactyly	23013	SPEN	ORPHA:1606
HP:0001829	Foot polydactyly	8510	MMP23B	ORPHA:1606
HP:0001829	Foot polydactyly	7798	LUZP1	ORPHA:1606
HP:0001829	Foot polydactyly	6497	SKI	ORPHA:1606
HP:0001829	Foot polydactyly	10630	PDPN	ORPHA:1606
HP:0001829	Foot polydactyly	3339	HSPG2	ORPHA:1606
HP:0001829	Foot polydactyly	10277	UBE4B	ORPHA:1606
HP:0001829	Foot polydactyly	8514	KCNAB2	ORPHA:1606
HP:0001829	Foot polydactyly	473	RERE	ORPHA:1606
HP:0001829	Foot polydactyly	63976	PRDM16	ORPHA:1606
HP:0001829	Foot polydactyly	54897	CASZ1	ORPHA:1606
HP:0001829	Foot polydactyly	8481	OFD1	ORPHA:2750
HP:0001829	Foot polydactyly	8481	OFD1	ORPHA:2754
HP:0001829	Foot polydactyly	1312	COMT	ORPHA:567
HP:0001829	Foot polydactyly	221037	JMJD1C	ORPHA:567
HP:0001829	Foot polydactyly	2812	GP1BB	ORPHA:567
HP:0001829	Foot polydactyly	6239	RREB1	ORPHA:567
HP:0001829	Foot polydactyly	6899	TBX1	ORPHA:567
HP:0001829	Foot polydactyly	7290	HIRA	ORPHA:567
HP:0001829	Foot polydactyly	9632	SEC24C	ORPHA:567
HP:0001829	Foot polydactyly	7353	UFD1	ORPHA:567
HP:0001829	Foot polydactyly	421	ARVCF	ORPHA:567
HP:0001829	Foot polydactyly	79583	TMEM231	ORPHA:2318
HP:0001829	Foot polydactyly	51524	TMEM138	ORPHA:2318
HP:0001829	Foot polydactyly	23090	ZNF423	ORPHA:2318
HP:0001829	Foot polydactyly	80184	CEP290	ORPHA:2318
HP:0001829	Foot polydactyly	51259	TMEM216	ORPHA:2318
HP:0001829	Foot polydactyly	51259	TMEM216	ORPHA:2754
HP:0001829	Foot polydactyly	57545	CC2D2A	ORPHA:2318
HP:0001829	Foot polydactyly	10210	TOPORS	ORPHA:2754
HP:0001829	Foot polydactyly	9851	KIAA0753	ORPHA:2754
HP:0001829	Foot polydactyly	26123	TCTN3	ORPHA:2754
HP:0001829	Foot polydactyly	26123	TCTN3	OMIM:258860
HP:0001829	Foot polydactyly	5147	PDE6D	ORPHA:2754
HP:0001829	Foot polydactyly	317662	FAM149B1	ORPHA:2754
HP:0001829	Foot polydactyly	374654	KIF7	ORPHA:2754
HP:0001829	Foot polydactyly	5566	PRKACA	ORPHA:289
HP:0001829	Foot polydactyly	5567	PRKACB	ORPHA:289
HP:0001829	Foot polydactyly	2735	GLI1	ORPHA:289
HP:0001829	Foot polydactyly	2121	EVC	ORPHA:289
HP:0001829	Foot polydactyly	51626	DYNC2LI1	ORPHA:289
HP:0001829	Foot polydactyly	132884	EVC2	ORPHA:289
HP:0001829	Foot polydactyly	64327	LMBR1	ORPHA:93405
HP:0001829	Foot polydactyly	6469	SHH	ORPHA:93405
HP:0001829	Foot polydactyly	6608	SMO	ORPHA:1553
HP:0001829	Foot polydactyly	26154	ABCA12	ORPHA:457
HP:0001829	Foot polydactyly	2137	EXTL3	ORPHA:508533
HP:0001829	Foot polydactyly	55112	DYNC2I1	ORPHA:474
HP:0001829	Foot polydactyly	26160	IFT172	ORPHA:474
HP:0001829	Foot polydactyly	57560	IFT80	ORPHA:474
HP:0001829	Foot polydactyly	79659	DYNC2H1	ORPHA:474
HP:0001829	Foot polydactyly	9742	IFT140	ORPHA:474
HP:0001829	Foot polydactyly	57728	WDR19	ORPHA:474
HP:0001829	Foot polydactyly	89891	DYNC2I2	ORPHA:474
HP:0001829	Foot polydactyly	79809	TTC21B	ORPHA:474
HP:0001829	Foot polydactyly	6309	SC5D	ORPHA:46059
HP:0001829	Foot polydactyly	6309	SC5D	OMIM:607330
HP:0001829	Foot polydactyly	26005	C2CD3	ORPHA:434179
HP:0001829	Foot polydactyly	54585	LZTFL1	OMIM:615994
HP:0001829	Foot polydactyly	79005	SCNM1	OMIM:620107
HP:0001829	Foot polydactyly	79770	TXNDC15	OMIM:619879
HP:0001829	Foot polydactyly	79770	TXNDC15	ORPHA:564
HP:0001829	Foot polydactyly	55209	SETD5	ORPHA:404440
HP:0001829	Foot polydactyly	55593	OTUD5	OMIM:301056
HP:0001829	Foot polydactyly	3239	HOXD13	OMIM:186000
HP:0001829	Foot polydactyly	23322	RPGRIP1L	OMIM:611561
HP:0001829	Foot polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001829	Foot polydactyly	9373	PLAA	ORPHA:521426
HP:0001829	Foot polydactyly	64093	SMOC1	OMIM:206920
HP:0001829	Foot polydactyly	64093	SMOC1	ORPHA:1106
HP:0001829	Foot polydactyly	1717	DHCR7	ORPHA:818
HP:0001829	Foot polydactyly	1717	DHCR7	OMIM:270400
HP:0001829	Foot polydactyly	10225	CD96	OMIM:211750
HP:0001829	Foot polydactyly	3930	LBR	OMIM:215140
HP:0001829	Foot polydactyly	652	BMP4	ORPHA:139471
HP:0001829	Foot polydactyly	8195	MKKS	ORPHA:2473
HP:0001829	Foot polydactyly	80173	IFT74	OMIM:617119
HP:0001829	Foot polydactyly	84314	TMEM107	ORPHA:564
HP:0001829	Foot polydactyly	84314	TMEM107	OMIM:617563
HP:0001829	Foot polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001829	Foot polydactyly	27031	NPHP3	OMIM:267010
HP:0001829	Foot polydactyly	285600	KIAA0825	OMIM:618498
HP:0001829	Foot polydactyly	23288	IQCE	OMIM:617642
HP:0001829	Foot polydactyly	583	BBS2	OMIM:615981
HP:0001829	Foot polydactyly	137392	CIBAR1	OMIM:618219
HP:0001829	Foot polydactyly	7700	ZNF141	OMIM:615226
HP:0001829	Foot polydactyly	166379	BBS12	OMIM:615989
HP:0001829	Foot polydactyly	27241	BBS9	OMIM:615986
HP:0001829	Foot polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001829	Foot polydactyly	2263	FGFR2	ORPHA:1540
HP:0001829	Foot polydactyly	57688	ZSWIM6	ORPHA:1827
HP:0001829	Foot polydactyly	57688	ZSWIM6	OMIM:603671
HP:0001829	Foot polydactyly	51715	RAB23	OMIM:201000
HP:0001829	Foot polydactyly	51715	RAB23	ORPHA:65759
HP:0001829	Foot polydactyly	1954	MEGF8	ORPHA:65759
HP:0001829	Foot polydactyly	53834	FGFRL1	OMIM:194190
HP:0001829	Foot polydactyly	1487	CTBP1	OMIM:194190
HP:0001829	Foot polydactyly	3954	LETM1	OMIM:194190
HP:0001829	Foot polydactyly	7468	NSD2	OMIM:194190
HP:0001829	Foot polydactyly	10815	CPLX1	OMIM:194190
HP:0001829	Foot polydactyly	83479	DDX59	ORPHA:2919
HP:0001829	Foot polydactyly	4750	NEK1	ORPHA:2751
HP:0001829	Foot polydactyly	4750	NEK1	OMIM:263520
HP:0001829	Foot polydactyly	2702	GJA5	OMIM:612474
HP:0001829	Foot polydactyly	2703	GJA8	OMIM:612474
HP:0001829	Foot polydactyly	7021	TFAP2B	ORPHA:46627
HP:0001829	Foot polydactyly	51776	MAP3K20	ORPHA:488232
HP:0001829	Foot polydactyly	2737	GLI3	OMIM:146510
HP:0001829	Foot polydactyly	5307	PITX1	OMIM:119800
HP:0009136	Duplication involving bones of the feet	79600	TCTN1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	79848	CSPP1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	51684	SUFU	ORPHA:475
HP:0009136	Duplication involving bones of the feet	54806	AHI1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	54806	AHI1	ORPHA:220493
HP:0009136	Duplication involving bones of the feet	153241	CEP120	ORPHA:475
HP:0009136	Duplication involving bones of the feet	153241	CEP120	ORPHA:220493
HP:0009136	Duplication involving bones of the feet	65250	CPLANE1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	65250	CPLANE1	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	91147	TMEM67	ORPHA:475
HP:0009136	Duplication involving bones of the feet	200894	ARL13B	ORPHA:475
HP:0009136	Duplication involving bones of the feet	9731	CEP104	ORPHA:475
HP:0009136	Duplication involving bones of the feet	219844	HYLS1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	23247	KATNIP	ORPHA:475
HP:0009136	Duplication involving bones of the feet	219854	TMEM218	ORPHA:475
HP:0009136	Duplication involving bones of the feet	54903	MKS1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	54903	MKS1	OMIM:249000
HP:0009136	Duplication involving bones of the feet	54903	MKS1	ORPHA:220493
HP:0009136	Duplication involving bones of the feet	95681	CEP41	ORPHA:475
HP:0009136	Duplication involving bones of the feet	95681	CEP41	ORPHA:220493
HP:0009136	Duplication involving bones of the feet	9786	KIAA0586	ORPHA:475
HP:0009136	Duplication involving bones of the feet	56623	INPP5E	ORPHA:475
HP:0009136	Duplication involving bones of the feet	56623	INPP5E	ORPHA:220493
HP:0009136	Duplication involving bones of the feet	79867	TCTN2	ORPHA:475
HP:0009136	Duplication involving bones of the feet	80776	B9D2	ORPHA:475
HP:0009136	Duplication involving bones of the feet	10464	PIBF1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	80210	ARMC9	ORPHA:475
HP:0009136	Duplication involving bones of the feet	23116	TOGARAM1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	25776	CBY1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	27077	B9D1	ORPHA:475
HP:0009136	Duplication involving bones of the feet	403	ARL3	ORPHA:475
HP:0009136	Duplication involving bones of the feet	65062	TMEM237	ORPHA:475
HP:0009136	Duplication involving bones of the feet	65062	TMEM237	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	5290	PIK3CA	ORPHA:276280
HP:0009136	Duplication involving bones of the feet	5290	PIK3CA	ORPHA:60040
HP:0009136	Duplication involving bones of the feet	64840	PORCN	OMIM:305600
HP:0009136	Duplication involving bones of the feet	84100	ARL6	OMIM:209900
HP:0009136	Duplication involving bones of the feet	79140	CCDC28B	OMIM:209900
HP:0009136	Duplication involving bones of the feet	582	BBS1	OMIM:209900
HP:0009136	Duplication involving bones of the feet	5590	PRKCZ	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	2563	GABRD	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	23013	SPEN	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	8510	MMP23B	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	7798	LUZP1	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	6497	SKI	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	10630	PDPN	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	3339	HSPG2	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	10277	UBE4B	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	8514	KCNAB2	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	473	RERE	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	63976	PRDM16	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	54897	CASZ1	ORPHA:1606
HP:0009136	Duplication involving bones of the feet	8481	OFD1	ORPHA:2750
HP:0009136	Duplication involving bones of the feet	8481	OFD1	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	1312	COMT	ORPHA:567
HP:0009136	Duplication involving bones of the feet	221037	JMJD1C	ORPHA:567
HP:0009136	Duplication involving bones of the feet	2812	GP1BB	ORPHA:567
HP:0009136	Duplication involving bones of the feet	6239	RREB1	ORPHA:567
HP:0009136	Duplication involving bones of the feet	6899	TBX1	ORPHA:567
HP:0009136	Duplication involving bones of the feet	7290	HIRA	ORPHA:567
HP:0009136	Duplication involving bones of the feet	9632	SEC24C	ORPHA:567
HP:0009136	Duplication involving bones of the feet	7353	UFD1	ORPHA:567
HP:0009136	Duplication involving bones of the feet	421	ARVCF	ORPHA:567
HP:0009136	Duplication involving bones of the feet	79583	TMEM231	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	51524	TMEM138	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	23090	ZNF423	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	80184	CEP290	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	51259	TMEM216	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	51259	TMEM216	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	57545	CC2D2A	ORPHA:2318
HP:0009136	Duplication involving bones of the feet	10210	TOPORS	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	9851	KIAA0753	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	26123	TCTN3	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	26123	TCTN3	OMIM:258860
HP:0009136	Duplication involving bones of the feet	5147	PDE6D	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	317662	FAM149B1	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	374654	KIF7	ORPHA:2754
HP:0009136	Duplication involving bones of the feet	5566	PRKACA	ORPHA:289
HP:0009136	Duplication involving bones of the feet	5567	PRKACB	ORPHA:289
HP:0009136	Duplication involving bones of the feet	2735	GLI1	ORPHA:289
HP:0009136	Duplication involving bones of the feet	2121	EVC	ORPHA:289
HP:0009136	Duplication involving bones of the feet	51626	DYNC2LI1	ORPHA:289
HP:0009136	Duplication involving bones of the feet	132884	EVC2	ORPHA:289
HP:0009136	Duplication involving bones of the feet	64327	LMBR1	ORPHA:93405
HP:0009136	Duplication involving bones of the feet	6469	SHH	ORPHA:93405
HP:0009136	Duplication involving bones of the feet	6608	SMO	ORPHA:1553
HP:0009136	Duplication involving bones of the feet	26154	ABCA12	ORPHA:457
HP:0009136	Duplication involving bones of the feet	2137	EXTL3	ORPHA:508533
HP:0009136	Duplication involving bones of the feet	55112	DYNC2I1	ORPHA:474
HP:0009136	Duplication involving bones of the feet	26160	IFT172	ORPHA:474
HP:0009136	Duplication involving bones of the feet	57560	IFT80	ORPHA:474
HP:0009136	Duplication involving bones of the feet	79659	DYNC2H1	ORPHA:474
HP:0009136	Duplication involving bones of the feet	9742	IFT140	ORPHA:474
HP:0009136	Duplication involving bones of the feet	57728	WDR19	ORPHA:474
HP:0009136	Duplication involving bones of the feet	89891	DYNC2I2	ORPHA:474
HP:0009136	Duplication involving bones of the feet	79809	TTC21B	ORPHA:474
HP:0009136	Duplication involving bones of the feet	6309	SC5D	ORPHA:46059
HP:0009136	Duplication involving bones of the feet	6309	SC5D	OMIM:607330
HP:0009136	Duplication involving bones of the feet	26005	C2CD3	ORPHA:434179
HP:0009136	Duplication involving bones of the feet	54585	LZTFL1	OMIM:615994
HP:0009136	Duplication involving bones of the feet	79005	SCNM1	OMIM:620107
HP:0009136	Duplication involving bones of the feet	79770	TXNDC15	OMIM:619879
HP:0009136	Duplication involving bones of the feet	79770	TXNDC15	ORPHA:564
HP:0009136	Duplication involving bones of the feet	55209	SETD5	ORPHA:404440
HP:0009136	Duplication involving bones of the feet	55593	OTUD5	OMIM:301056
HP:0009136	Duplication involving bones of the feet	3239	HOXD13	OMIM:186000
HP:0009136	Duplication involving bones of the feet	23322	RPGRIP1L	OMIM:611561
HP:0009136	Duplication involving bones of the feet	23322	RPGRIP1L	ORPHA:564
HP:0009136	Duplication involving bones of the feet	9373	PLAA	ORPHA:521426
HP:0009136	Duplication involving bones of the feet	64093	SMOC1	OMIM:206920
HP:0009136	Duplication involving bones of the feet	64093	SMOC1	ORPHA:1106
HP:0009136	Duplication involving bones of the feet	1717	DHCR7	ORPHA:818
HP:0009136	Duplication involving bones of the feet	1717	DHCR7	OMIM:270400
HP:0009136	Duplication involving bones of the feet	10225	CD96	OMIM:211750
HP:0009136	Duplication involving bones of the feet	3930	LBR	OMIM:215140
HP:0009136	Duplication involving bones of the feet	652	BMP4	ORPHA:139471
HP:0009136	Duplication involving bones of the feet	8195	MKKS	ORPHA:2473
HP:0009136	Duplication involving bones of the feet	80173	IFT74	OMIM:617119
HP:0009136	Duplication involving bones of the feet	84314	TMEM107	ORPHA:564
HP:0009136	Duplication involving bones of the feet	84314	TMEM107	OMIM:617563
HP:0009136	Duplication involving bones of the feet	57096	RPGRIP1	ORPHA:564
HP:0009136	Duplication involving bones of the feet	27031	NPHP3	OMIM:267010
HP:0009136	Duplication involving bones of the feet	285600	KIAA0825	OMIM:618498
HP:0009136	Duplication involving bones of the feet	23288	IQCE	OMIM:617642
HP:0009136	Duplication involving bones of the feet	583	BBS2	OMIM:615981
HP:0009136	Duplication involving bones of the feet	137392	CIBAR1	OMIM:618219
HP:0009136	Duplication involving bones of the feet	7700	ZNF141	OMIM:615226
HP:0009136	Duplication involving bones of the feet	166379	BBS12	OMIM:615989
HP:0009136	Duplication involving bones of the feet	27241	BBS9	OMIM:615986
HP:0009136	Duplication involving bones of the feet	255758	DYNLT2B	OMIM:617405
HP:0009136	Duplication involving bones of the feet	2263	FGFR2	ORPHA:1540
HP:0009136	Duplication involving bones of the feet	57688	ZSWIM6	ORPHA:1827
HP:0009136	Duplication involving bones of the feet	57688	ZSWIM6	OMIM:603671
HP:0009136	Duplication involving bones of the feet	51715	RAB23	OMIM:201000
HP:0009136	Duplication involving bones of the feet	51715	RAB23	ORPHA:65759
HP:0009136	Duplication involving bones of the feet	1954	MEGF8	ORPHA:65759
HP:0009136	Duplication involving bones of the feet	53834	FGFRL1	OMIM:194190
HP:0009136	Duplication involving bones of the feet	1487	CTBP1	OMIM:194190
HP:0009136	Duplication involving bones of the feet	3954	LETM1	OMIM:194190
HP:0009136	Duplication involving bones of the feet	7468	NSD2	OMIM:194190
HP:0009136	Duplication involving bones of the feet	10815	CPLX1	OMIM:194190
HP:0009136	Duplication involving bones of the feet	4920	ROR2	OMIM:268310
HP:0009136	Duplication involving bones of the feet	55012	PPP2R3C	OMIM:618419
HP:0009136	Duplication involving bones of the feet	7474	WNT5A	OMIM:180700
HP:0009136	Duplication involving bones of the feet	1855	DVL1	OMIM:180700
HP:0009136	Duplication involving bones of the feet	83479	DDX59	ORPHA:2919
HP:0009136	Duplication involving bones of the feet	4750	NEK1	ORPHA:2751
HP:0009136	Duplication involving bones of the feet	4750	NEK1	OMIM:263520
HP:0009136	Duplication involving bones of the feet	2702	GJA5	OMIM:612474
HP:0009136	Duplication involving bones of the feet	2703	GJA8	OMIM:612474
HP:0009136	Duplication involving bones of the feet	7021	TFAP2B	ORPHA:46627
HP:0009136	Duplication involving bones of the feet	51776	MAP3K20	ORPHA:488232
HP:0009136	Duplication involving bones of the feet	2737	GLI3	OMIM:146510
HP:0009136	Duplication involving bones of the feet	5307	PITX1	OMIM:119800
HP:0009138	Synostosis involving bones of the lower limbs	1836	SLC26A2	ORPHA:93307
HP:0009138	Synostosis involving bones of the lower limbs	3239	HOXD13	ORPHA:93406
HP:0009138	Synostosis involving bones of the lower limbs	2192	FBLN1	OMIM:608180
HP:0009138	Synostosis involving bones of the lower limbs	2254	FGF9	OMIM:612961
HP:0009138	Synostosis involving bones of the lower limbs	6299	SALL1	OMIM:107480
HP:0009138	Synostosis involving bones of the lower limbs	64093	SMOC1	OMIM:206920
HP:0009138	Synostosis involving bones of the lower limbs	9496	TBX4	OMIM:147891
HP:0009138	Synostosis involving bones of the lower limbs	2737	GLI3	ORPHA:93322
HP:0009138	Synostosis involving bones of the lower limbs	5447	POR	ORPHA:95699
HP:0009138	Synostosis involving bones of the lower limbs	2316	FLNA	OMIM:305620
HP:0009138	Synostosis involving bones of the lower limbs	2260	FGFR1	OMIM:123150
HP:0009138	Synostosis involving bones of the lower limbs	2263	FGFR2	OMIM:123150
HP:0009138	Synostosis involving bones of the lower limbs	22856	CHSY1	ORPHA:363417
HP:0009138	Synostosis involving bones of the lower limbs	22856	CHSY1	OMIM:605282
HP:0009138	Synostosis involving bones of the lower limbs	392255	GDF6	OMIM:617898
HP:0009138	Synostosis involving bones of the lower limbs	64327	LMBR1	ORPHA:2378
HP:0009138	Synostosis involving bones of the lower limbs	4621	MYH3	OMIM:618469
HP:0009138	Synostosis involving bones of the lower limbs	4621	MYH3	OMIM:178110
HP:0009138	Synostosis involving bones of the lower limbs	4621	MYH3	ORPHA:1147
HP:0009138	Synostosis involving bones of the lower limbs	8200	GDF5	ORPHA:2098
HP:0009138	Synostosis involving bones of the lower limbs	8200	GDF5	ORPHA:3250
HP:0009138	Synostosis involving bones of the lower limbs	8200	GDF5	ORPHA:2639
HP:0009138	Synostosis involving bones of the lower limbs	8200	GDF5	ORPHA:968
HP:0009138	Synostosis involving bones of the lower limbs	8200	GDF5	OMIM:610017
HP:0009138	Synostosis involving bones of the lower limbs	658	BMPR1B	ORPHA:2098
HP:0009138	Synostosis involving bones of the lower limbs	658	BMPR1B	ORPHA:2639
HP:0009138	Synostosis involving bones of the lower limbs	658	BMPR1B	OMIM:609441
HP:0009138	Synostosis involving bones of the lower limbs	2261	FGFR3	ORPHA:53271
HP:0009138	Synostosis involving bones of the lower limbs	7140	TNNT3	ORPHA:1147
HP:0009138	Synostosis involving bones of the lower limbs	7169	TPM2	ORPHA:1147
HP:0009138	Synostosis involving bones of the lower limbs	259232	NALCN	ORPHA:1147
HP:0009138	Synostosis involving bones of the lower limbs	7136	TNNI2	ORPHA:1147
HP:0009138	Synostosis involving bones of the lower limbs	8195	MKKS	ORPHA:2473
HP:0009138	Synostosis involving bones of the lower limbs	2317	FLNB	OMIM:272460
HP:0009138	Synostosis involving bones of the lower limbs	8481	OFD1	ORPHA:2750
HP:0009138	Synostosis involving bones of the lower limbs	538	ATP7A	ORPHA:565
HP:0009138	Synostosis involving bones of the lower limbs	6885	MAP3K7	OMIM:157800
HP:0009138	Synostosis involving bones of the lower limbs	727857	BHLHA9	OMIM:609432
HP:0009138	Synostosis involving bones of the lower limbs	9241	NOG	OMIM:186500
HP:0009138	Synostosis involving bones of the lower limbs	51776	MAP3K20	ORPHA:488232
HP:0009139	Osteolysis involving bones of the lower limbs	9935	MAFB	OMIM:166300
HP:0009139	Osteolysis involving bones of the lower limbs	4313	MMP2	OMIM:259600
HP:0009139	Osteolysis involving bones of the lower limbs	1281	COL3A1	OMIM:130050
HP:0009139	Osteolysis involving bones of the lower limbs	6335	SCN9A	ORPHA:970
HP:0009139	Osteolysis involving bones of the lower limbs	6335	SCN9A	OMIM:201300
HP:0009139	Osteolysis involving bones of the lower limbs	65125	WNK1	ORPHA:970
HP:0009139	Osteolysis involving bones of the lower limbs	65125	WNK1	OMIM:201300
HP:0009139	Osteolysis involving bones of the lower limbs	54463	RETREG1	ORPHA:970
HP:0009139	Osteolysis involving bones of the lower limbs	54463	RETREG1	OMIM:201300
HP:0009139	Osteolysis involving bones of the lower limbs	547	KIF1A	ORPHA:970
HP:0009139	Osteolysis involving bones of the lower limbs	547	KIF1A	OMIM:201300
HP:0009139	Osteolysis involving bones of the lower limbs	4853	NOTCH2	OMIM:102500
HP:0009139	Osteolysis involving bones of the lower limbs	4000	LMNA	ORPHA:280365
HP:0009139	Osteolysis involving bones of the lower limbs	4000	LMNA	OMIM:248370
HP:0009139	Osteolysis involving bones of the lower limbs	4000	LMNA	ORPHA:90153
HP:0009139	Osteolysis involving bones of the lower limbs	10269	ZMPSTE24	OMIM:608612
HP:0009139	Osteolysis involving bones of the lower limbs	10269	ZMPSTE24	ORPHA:90154
HP:0009139	Osteolysis involving bones of the lower limbs	10651	MTX2	ORPHA:90153
HP:0009139	Osteolysis involving bones of the lower limbs	4323	MMP14	ORPHA:371428
HP:0009139	Osteolysis involving bones of the lower limbs	4323	MMP14	OMIM:277950
HP:0009139	Osteolysis involving bones of the lower limbs	427	ASAH1	OMIM:228000
HP:0009139	Osteolysis involving bones of the lower limbs	2316	FLNA	ORPHA:88630
HP:0012190	T-cell lymphoma	2956	MSH6	OMIM:619097
HP:0012190	T-cell lymphoma	5426	POLE	OMIM:618336
HP:0012190	T-cell lymphoma	355	FAS	ORPHA:3261
HP:0012190	T-cell lymphoma	356	FASLG	ORPHA:3261
HP:0012190	T-cell lymphoma	5580	PRKCD	ORPHA:3261
HP:0012190	T-cell lymphoma	843	CASP10	ORPHA:3261
HP:0012190	T-cell lymphoma	10125	RASGRP1	ORPHA:3261
HP:0012190	T-cell lymphoma	4683	NBN	ORPHA:647
HP:0012190	T-cell lymphoma	57217	TTC7A	OMIM:243150
HP:0012190	T-cell lymphoma	4292	MLH1	OMIM:276300
HP:0012190	T-cell lymphoma	1493	CTLA4	ORPHA:3162
HP:0012190	T-cell lymphoma	1493	CTLA4	ORPHA:2584
HP:0012190	T-cell lymphoma	940	CD28	ORPHA:3162
HP:0012190	T-cell lymphoma	940	CD28	ORPHA:2584
HP:0012190	T-cell lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012190	T-cell lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012190	T-cell lymphoma	84868	HAVCR2	OMIM:618398
HP:0012191	B-cell lymphoma	6850	SYK	OMIM:619381
HP:0012191	B-cell lymphoma	355	FAS	ORPHA:3261
HP:0012191	B-cell lymphoma	356	FASLG	ORPHA:3261
HP:0012191	B-cell lymphoma	5580	PRKCD	ORPHA:3261
HP:0012191	B-cell lymphoma	843	CASP10	ORPHA:3261
HP:0012191	B-cell lymphoma	10125	RASGRP1	ORPHA:3261
HP:0012191	B-cell lymphoma	10125	RASGRP1	OMIM:618534
HP:0012191	B-cell lymphoma	595	CCND1	ORPHA:52416
HP:0012191	B-cell lymphoma	472	ATM	ORPHA:52416
HP:0012191	B-cell lymphoma	3492	IGH	ORPHA:52416
HP:0012191	B-cell lymphoma	3492	IGH	ORPHA:52417
HP:0012191	B-cell lymphoma	330	BIRC3	ORPHA:52417
HP:0012191	B-cell lymphoma	10892	MALT1	ORPHA:52417
HP:0012191	B-cell lymphoma	27086	FOXP1	ORPHA:52417
HP:0012191	B-cell lymphoma	8915	BCL10	ORPHA:52417
HP:0012191	B-cell lymphoma	84061	MAGT1	OMIM:300853
HP:0012191	B-cell lymphoma	23149	FCHO1	OMIM:619164
HP:0012191	B-cell lymphoma	3702	ITK	OMIM:613011
HP:0012191	B-cell lymphoma	100	ADA	OMIM:102700
HP:0012191	B-cell lymphoma	5788	PTPRC	OMIM:619924
HP:0012191	B-cell lymphoma	5295	PIK3R1	OMIM:616005
HP:0012191	B-cell lymphoma	22806	IKZF3	OMIM:619437
HP:0012191	B-cell lymphoma	4683	NBN	ORPHA:647
HP:0012191	B-cell lymphoma	4773	NFATC2	OMIM:620232
HP:0012192	Cutaneous T-cell lymphoma	1493	CTLA4	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	1493	CTLA4	ORPHA:2584
HP:0012192	Cutaneous T-cell lymphoma	940	CD28	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	940	CD28	ORPHA:2584
HP:0012192	Cutaneous T-cell lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012194	Episodic hemiplegia	477	ATP1A2	OMIM:104290
HP:0012194	Episodic hemiplegia	477	ATP1A2	ORPHA:2131
HP:0012194	Episodic hemiplegia	773	CACNA1A	ORPHA:2131
HP:0012194	Episodic hemiplegia	6507	SLC1A3	ORPHA:2131
HP:0012194	Episodic hemiplegia	478	ATP1A3	ORPHA:2131
HP:0012195	Irregular respiration	9997	SCO2	OMIM:604377
HP:0012196	Cheyne-Stokes respiration	2744	GLS	OMIM:618328
HP:0012196	Cheyne-Stokes respiration	16	AARS1	OMIM:619661
HP:0012197	Insulinoma	389692	MAFA	OMIM:147630
HP:0012197	Insulinoma	4221	MEN1	ORPHA:652
HP:0012197	Insulinoma	4221	MEN1	OMIM:131100
HP:0012197	Insulinoma	1027	CDKN1B	ORPHA:652
HP:0012197	Insulinoma	1027	CDKN1B	ORPHA:276152
HP:0012197	Insulinoma	1026	CDKN1A	ORPHA:652
HP:0012197	Insulinoma	1030	CDKN2B	ORPHA:652
HP:0012197	Insulinoma	1031	CDKN2C	ORPHA:652
HP:0012198	Juvenile colonic polyposis	657	BMPR1A	OMIM:610069
HP:0012198	Juvenile colonic polyposis	657	BMPR1A	ORPHA:157794
HP:0012198	Juvenile colonic polyposis	26585	GREM1	ORPHA:157794
HP:0009140	Synostosis involving bones of the feet	1836	SLC26A2	ORPHA:93307
HP:0009140	Synostosis involving bones of the feet	3239	HOXD13	ORPHA:93406
HP:0009140	Synostosis involving bones of the feet	2192	FBLN1	OMIM:608180
HP:0009140	Synostosis involving bones of the feet	2254	FGF9	OMIM:612961
HP:0009140	Synostosis involving bones of the feet	6299	SALL1	OMIM:107480
HP:0009140	Synostosis involving bones of the feet	64093	SMOC1	OMIM:206920
HP:0009140	Synostosis involving bones of the feet	5447	POR	ORPHA:95699
HP:0009140	Synostosis involving bones of the feet	9496	TBX4	OMIM:147891
HP:0009140	Synostosis involving bones of the feet	2316	FLNA	OMIM:305620
HP:0009140	Synostosis involving bones of the feet	2260	FGFR1	OMIM:123150
HP:0009140	Synostosis involving bones of the feet	2263	FGFR2	OMIM:123150
HP:0009140	Synostosis involving bones of the feet	22856	CHSY1	ORPHA:363417
HP:0009140	Synostosis involving bones of the feet	22856	CHSY1	OMIM:605282
HP:0009140	Synostosis involving bones of the feet	392255	GDF6	OMIM:617898
HP:0009140	Synostosis involving bones of the feet	64327	LMBR1	ORPHA:2378
HP:0009140	Synostosis involving bones of the feet	4621	MYH3	OMIM:618469
HP:0009140	Synostosis involving bones of the feet	4621	MYH3	OMIM:178110
HP:0009140	Synostosis involving bones of the feet	4621	MYH3	ORPHA:1147
HP:0009140	Synostosis involving bones of the feet	8200	GDF5	ORPHA:2098
HP:0009140	Synostosis involving bones of the feet	8200	GDF5	ORPHA:3250
HP:0009140	Synostosis involving bones of the feet	8200	GDF5	ORPHA:2639
HP:0009140	Synostosis involving bones of the feet	8200	GDF5	ORPHA:968
HP:0009140	Synostosis involving bones of the feet	8200	GDF5	OMIM:610017
HP:0009140	Synostosis involving bones of the feet	658	BMPR1B	ORPHA:2098
HP:0009140	Synostosis involving bones of the feet	658	BMPR1B	ORPHA:2639
HP:0009140	Synostosis involving bones of the feet	658	BMPR1B	OMIM:609441
HP:0009140	Synostosis involving bones of the feet	2261	FGFR3	ORPHA:53271
HP:0009140	Synostosis involving bones of the feet	7140	TNNT3	ORPHA:1147
HP:0009140	Synostosis involving bones of the feet	7169	TPM2	ORPHA:1147
HP:0009140	Synostosis involving bones of the feet	259232	NALCN	ORPHA:1147
HP:0009140	Synostosis involving bones of the feet	7136	TNNI2	ORPHA:1147
HP:0009140	Synostosis involving bones of the feet	8195	MKKS	ORPHA:2473
HP:0009140	Synostosis involving bones of the feet	2317	FLNB	OMIM:272460
HP:0009140	Synostosis involving bones of the feet	8481	OFD1	ORPHA:2750
HP:0009140	Synostosis involving bones of the feet	538	ATP7A	ORPHA:565
HP:0009140	Synostosis involving bones of the feet	6885	MAP3K7	OMIM:157800
HP:0009140	Synostosis involving bones of the feet	2737	GLI3	ORPHA:93322
HP:0009140	Synostosis involving bones of the feet	727857	BHLHA9	OMIM:609432
HP:0009140	Synostosis involving bones of the feet	9241	NOG	OMIM:186500
HP:0009140	Synostosis involving bones of the feet	51776	MAP3K20	ORPHA:488232
HP:0009142	Duplication of bones involving the upper extremities	54806	AHI1	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	54806	AHI1	ORPHA:220493
HP:0009142	Duplication of bones involving the upper extremities	200894	ARL13B	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	9731	CEP104	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	23247	KATNIP	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	219854	TMEM218	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	95681	CEP41	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	95681	CEP41	ORPHA:220493
HP:0009142	Duplication of bones involving the upper extremities	9786	KIAA0586	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	10464	PIBF1	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	23116	TOGARAM1	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	25776	CBY1	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	403	ARL3	ORPHA:475
HP:0009142	Duplication of bones involving the upper extremities	10682	EBP	ORPHA:401973
HP:0009142	Duplication of bones involving the upper extremities	5626	PROP1	ORPHA:226307
HP:0009142	Duplication of bones involving the upper extremities	89884	LHX4	ORPHA:226307
HP:0009142	Duplication of bones involving the upper extremities	8022	LHX3	ORPHA:226307
HP:0009142	Duplication of bones involving the upper extremities	5449	POU1F1	ORPHA:226307
HP:0009142	Duplication of bones involving the upper extremities	8820	HESX1	ORPHA:226307
HP:0009142	Duplication of bones involving the upper extremities	1947	EFNB1	ORPHA:1520
HP:0009142	Duplication of bones involving the upper extremities	5290	PIK3CA	ORPHA:60040
HP:0009142	Duplication of bones involving the upper extremities	10908	PNPLA6	ORPHA:2377
HP:0009142	Duplication of bones involving the upper extremities	51	ACOX1	ORPHA:2971
HP:0009142	Duplication of bones involving the upper extremities	2187	FANCB	OMIM:314390
HP:0009142	Duplication of bones involving the upper extremities	7547	ZIC3	OMIM:314390
HP:0009142	Duplication of bones involving the upper extremities	641	BLM	OMIM:210900
HP:0009142	Duplication of bones involving the upper extremities	2314	FLII	ORPHA:819
HP:0009142	Duplication of bones involving the upper extremities	23096	IQSEC2	ORPHA:819
HP:0009142	Duplication of bones involving the upper extremities	10743	RAI1	ORPHA:819
HP:0009142	Duplication of bones involving the upper extremities	10522	DEAF1	ORPHA:819
HP:0009142	Duplication of bones involving the upper extremities	26154	ABCA12	ORPHA:457
HP:0009142	Duplication of bones involving the upper extremities	8241	RBM10	ORPHA:2886
HP:0009142	Duplication of bones involving the upper extremities	1312	COMT	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	221037	JMJD1C	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	2812	GP1BB	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	6239	RREB1	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	6899	TBX1	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	7290	HIRA	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	9632	SEC24C	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	7353	UFD1	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	421	ARVCF	ORPHA:567
HP:0009142	Duplication of bones involving the upper extremities	51524	TMEM138	ORPHA:2318
HP:0009142	Duplication of bones involving the upper extremities	23090	ZNF423	ORPHA:2318
HP:0009142	Duplication of bones involving the upper extremities	10210	TOPORS	ORPHA:2754
HP:0009142	Duplication of bones involving the upper extremities	9897	WASHC5	ORPHA:7
HP:0009142	Duplication of bones involving the upper extremities	28952	CCDC22	ORPHA:7
HP:0009142	Duplication of bones involving the upper extremities	5566	PRKACA	ORPHA:289
HP:0009142	Duplication of bones involving the upper extremities	25970	SH2B1	ORPHA:261197
HP:0009142	Duplication of bones involving the upper extremities	5728	PTEN	ORPHA:65285
HP:0009142	Duplication of bones involving the upper extremities	6469	SHH	ORPHA:93405
HP:0009142	Duplication of bones involving the upper extremities	55636	CHD7	OMIM:214800
HP:0009142	Duplication of bones involving the upper extremities	2313	FLI1	ORPHA:2308
HP:0009142	Duplication of bones involving the upper extremities	6309	SC5D	ORPHA:46059
HP:0009142	Duplication of bones involving the upper extremities	6309	SC5D	OMIM:607330
HP:0009142	Duplication of bones involving the upper extremities	894	CCND2	ORPHA:83473
HP:0009142	Duplication of bones involving the upper extremities	894	CCND2	OMIM:615938
HP:0009142	Duplication of bones involving the upper extremities	5296	PIK3R2	ORPHA:83473
HP:0009142	Duplication of bones involving the upper extremities	10000	AKT3	ORPHA:83473
HP:0009142	Duplication of bones involving the upper extremities	10000	AKT3	OMIM:615937
HP:0009142	Duplication of bones involving the upper extremities	26160	IFT172	OMIM:615630
HP:0009142	Duplication of bones involving the upper extremities	26160	IFT172	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	26160	IFT172	OMIM:619471
HP:0009142	Duplication of bones involving the upper extremities	26160	IFT172	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	56623	INPP5E	OMIM:213300
HP:0009142	Duplication of bones involving the upper extremities	56623	INPP5E	ORPHA:1454
HP:0009142	Duplication of bones involving the upper extremities	55593	OTUD5	OMIM:301056
HP:0009142	Duplication of bones involving the upper extremities	1717	DHCR7	ORPHA:818
HP:0009142	Duplication of bones involving the upper extremities	1717	DHCR7	OMIM:270400
HP:0009142	Duplication of bones involving the upper extremities	10225	CD96	OMIM:211750
HP:0009142	Duplication of bones involving the upper extremities	6926	TBX3	ORPHA:3138
HP:0009142	Duplication of bones involving the upper extremities	6926	TBX3	OMIM:181450
HP:0009142	Duplication of bones involving the upper extremities	7476	WNT7A	OMIM:228930
HP:0009142	Duplication of bones involving the upper extremities	84100	ARL6	OMIM:209900
HP:0009142	Duplication of bones involving the upper extremities	84100	ARL6	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	79140	CCDC28B	OMIM:209900
HP:0009142	Duplication of bones involving the upper extremities	582	BBS1	OMIM:209900
HP:0009142	Duplication of bones involving the upper extremities	582	BBS1	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	3209	HOXA13	ORPHA:2438
HP:0009142	Duplication of bones involving the upper extremities	3209	HOXA13	OMIM:176305
HP:0009142	Duplication of bones involving the upper extremities	64093	SMOC1	ORPHA:1106
HP:0009142	Duplication of bones involving the upper extremities	64093	SMOC1	OMIM:206920
HP:0009142	Duplication of bones involving the upper extremities	5147	PDE6D	OMIM:615665
HP:0009142	Duplication of bones involving the upper extremities	26005	C2CD3	OMIM:615948
HP:0009142	Duplication of bones involving the upper extremities	26005	C2CD3	ORPHA:434179
HP:0009142	Duplication of bones involving the upper extremities	26040	SETBP1	OMIM:269150
HP:0009142	Duplication of bones involving the upper extremities	2121	EVC	ORPHA:952
HP:0009142	Duplication of bones involving the upper extremities	2121	EVC	OMIM:193530
HP:0009142	Duplication of bones involving the upper extremities	2121	EVC	OMIM:225500
HP:0009142	Duplication of bones involving the upper extremities	132884	EVC2	ORPHA:952
HP:0009142	Duplication of bones involving the upper extremities	132884	EVC2	OMIM:193530
HP:0009142	Duplication of bones involving the upper extremities	132884	EVC2	OMIM:225500
HP:0009142	Duplication of bones involving the upper extremities	153241	CEP120	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	51626	DYNC2LI1	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	51626	DYNC2LI1	OMIM:617088
HP:0009142	Duplication of bones involving the upper extremities	9742	IFT140	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	9742	IFT140	OMIM:266920
HP:0009142	Duplication of bones involving the upper extremities	57728	WDR19	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	79809	TTC21B	ORPHA:474
HP:0009142	Duplication of bones involving the upper extremities	64840	PORCN	OMIM:305600
HP:0009142	Duplication of bones involving the upper extremities	92482	BBIP1	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	11020	IFT27	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	49855	SCAPER	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	4867	NPHP1	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	27241	BBS9	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	27241	BBS9	OMIM:615986
HP:0009142	Duplication of bones involving the upper extremities	84984	CEP19	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	22954	TRIM32	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	79738	BBS10	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	123016	TTC8	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	583	BBS2	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	583	BBS2	OMIM:615981
HP:0009142	Duplication of bones involving the upper extremities	585	BBS4	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	55212	BBS7	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	166379	BBS12	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	166379	BBS12	OMIM:615989
HP:0009142	Duplication of bones involving the upper extremities	10806	SDCCAG8	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	157657	CFAP418	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	157657	CFAP418	OMIM:617406
HP:0009142	Duplication of bones involving the upper extremities	129880	BBS5	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	80173	IFT74	ORPHA:110
HP:0009142	Duplication of bones involving the upper extremities	79005	SCNM1	OMIM:620107
HP:0009142	Duplication of bones involving the upper extremities	54499	TMCO1	OMIM:213980
HP:0009142	Duplication of bones involving the upper extremities	2736	GLI2	OMIM:610829
HP:0009142	Duplication of bones involving the upper extremities	51360	MBTPS2	OMIM:308205
HP:0009142	Duplication of bones involving the upper extremities	51360	MBTPS2	ORPHA:85284
HP:0009142	Duplication of bones involving the upper extremities	80210	ARMC9	OMIM:617622
HP:0009142	Duplication of bones involving the upper extremities	9373	PLAA	ORPHA:521426
HP:0009142	Duplication of bones involving the upper extremities	2316	FLNA	OMIM:304120
HP:0009142	Duplication of bones involving the upper extremities	3930	LBR	OMIM:215140
HP:0009142	Duplication of bones involving the upper extremities	2239	GPC4	ORPHA:373
HP:0009142	Duplication of bones involving the upper extremities	2239	GPC4	OMIM:312870
HP:0009142	Duplication of bones involving the upper extremities	2719	GPC3	ORPHA:373
HP:0009142	Duplication of bones involving the upper extremities	2719	GPC3	OMIM:312870
HP:0009142	Duplication of bones involving the upper extremities	51684	SUFU	OMIM:617757
HP:0009142	Duplication of bones involving the upper extremities	257	ALX3	OMIM:136760
HP:0009142	Duplication of bones involving the upper extremities	23288	IQCE	OMIM:617642
HP:0009142	Duplication of bones involving the upper extremities	5567	PRKACB	OMIM:619143
HP:0009142	Duplication of bones involving the upper extremities	137392	CIBAR1	OMIM:618219
HP:0009142	Duplication of bones involving the upper extremities	7700	ZNF141	OMIM:615226
HP:0009142	Duplication of bones involving the upper extremities	9851	KIAA0753	OMIM:617127
HP:0009142	Duplication of bones involving the upper extremities	7046	TGFBR1	OMIM:609192
HP:0009142	Duplication of bones involving the upper extremities	255758	DYNLT2B	OMIM:617405
HP:0009142	Duplication of bones involving the upper extremities	57167	SALL4	ORPHA:233
HP:0009142	Duplication of bones involving the upper extremities	57167	SALL4	ORPHA:959
HP:0009142	Duplication of bones involving the upper extremities	57167	SALL4	ORPHA:2307
HP:0009142	Duplication of bones involving the upper extremities	9935	MAFB	ORPHA:233
HP:0009142	Duplication of bones involving the upper extremities	1123	CHN1	ORPHA:233
HP:0009142	Duplication of bones involving the upper extremities	2137	EXTL3	ORPHA:508533
HP:0009142	Duplication of bones involving the upper extremities	22827	PUF60	ORPHA:508498
HP:0009142	Duplication of bones involving the upper extremities	65250	CPLANE1	OMIM:277170
HP:0009142	Duplication of bones involving the upper extremities	6608	SMO	OMIM:601707
HP:0009142	Duplication of bones involving the upper extremities	6608	SMO	ORPHA:1553
HP:0009142	Duplication of bones involving the upper extremities	4750	NEK1	OMIM:263520
HP:0009142	Duplication of bones involving the upper extremities	2737	GLI3	OMIM:175700
HP:0009142	Duplication of bones involving the upper extremities	2737	GLI3	ORPHA:380
HP:0009142	Duplication of bones involving the upper extremities	2737	GLI3	OMIM:174200
HP:0009142	Duplication of bones involving the upper extremities	64327	LMBR1	ORPHA:2378
HP:0009142	Duplication of bones involving the upper extremities	64327	LMBR1	OMIM:174500
HP:0009142	Duplication of bones involving the upper extremities	55027	HEATR3	OMIM:620072
HP:0009142	Duplication of bones involving the upper extremities	6299	SALL1	OMIM:107480
HP:0009142	Duplication of bones involving the upper extremities	6299	SALL1	ORPHA:857
HP:0009142	Duplication of bones involving the upper extremities	55112	DYNC2I1	ORPHA:93271
HP:0009142	Duplication of bones involving the upper extremities	57560	IFT80	ORPHA:93271
HP:0009142	Duplication of bones involving the upper extremities	57539	WDR35	ORPHA:93271
HP:0009142	Duplication of bones involving the upper extremities	79659	DYNC2H1	ORPHA:93271
HP:0009142	Duplication of bones involving the upper extremities	89891	DYNC2I2	ORPHA:93271
HP:0009142	Duplication of bones involving the upper extremities	374879	ZNF699	OMIM:619488
HP:0009142	Duplication of bones involving the upper extremities	374654	KIF7	OMIM:200990
HP:0009142	Duplication of bones involving the upper extremities	8318	CDC45	OMIM:617063
HP:0009142	Duplication of bones involving the upper extremities	51339	DACT1	ORPHA:857
HP:0009142	Duplication of bones involving the upper extremities	2177	FANCD2	OMIM:227646
HP:0009142	Duplication of bones involving the upper extremities	727857	BHLHA9	ORPHA:3329
HP:0009142	Duplication of bones involving the upper extremities	23133	PHF8	ORPHA:85287
HP:0009142	Duplication of bones involving the upper extremities	8481	OFD1	ORPHA:2750
HP:0009142	Duplication of bones involving the upper extremities	219844	HYLS1	OMIM:236680
HP:0009142	Duplication of bones involving the upper extremities	26123	TCTN3	ORPHA:2753
HP:0009142	Duplication of bones involving the upper extremities	26123	TCTN3	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	2697	GJA1	ORPHA:2710
HP:0009142	Duplication of bones involving the upper extremities	3239	HOXD13	ORPHA:887
HP:0009142	Duplication of bones involving the upper extremities	7020	TFAP2A	OMIM:113620
HP:0009142	Duplication of bones involving the upper extremities	7020	TFAP2A	ORPHA:1297
HP:0009142	Duplication of bones involving the upper extremities	84314	TMEM107	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	79867	TCTN2	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	80776	B9D2	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	79600	TCTN1	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	57096	RPGRIP1	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	79848	CSPP1	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	80184	CEP290	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	51259	TMEM216	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	57545	CC2D2A	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	79583	TMEM231	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	91147	TMEM67	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	79770	TXNDC15	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	27077	B9D1	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	23322	RPGRIP1L	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	54903	MKS1	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	65062	TMEM237	ORPHA:564
HP:0009142	Duplication of bones involving the upper extremities	10815	CPLX1	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	10815	CPLX1	OMIM:194190
HP:0009142	Duplication of bones involving the upper extremities	54872	PIGG	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	7469	NELFA	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	1487	CTBP1	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	1487	CTBP1	OMIM:194190
HP:0009142	Duplication of bones involving the upper extremities	3954	LETM1	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	3954	LETM1	OMIM:194190
HP:0009142	Duplication of bones involving the upper extremities	7468	NSD2	ORPHA:280
HP:0009142	Duplication of bones involving the upper extremities	7468	NSD2	OMIM:194190
HP:0009142	Duplication of bones involving the upper extremities	2735	GLI1	OMIM:174400
HP:0009142	Duplication of bones involving the upper extremities	53834	FGFRL1	OMIM:194190
HP:0009142	Duplication of bones involving the upper extremities	9343	EFTUD2	OMIM:610536
HP:0009142	Duplication of bones involving the upper extremities	9343	EFTUD2	ORPHA:79113
HP:0009142	Duplication of bones involving the upper extremities	2263	FGFR2	OMIM:101200
HP:0009142	Duplication of bones involving the upper extremities	2317	FLNB	OMIM:150250
HP:0009142	Duplication of bones involving the upper extremities	2317	FLNB	ORPHA:503
HP:0009142	Duplication of bones involving the upper extremities	285600	KIAA0825	OMIM:618498
HP:0009142	Duplication of bones involving the upper extremities	51057	WDPCP	OMIM:217085
HP:0009142	Duplication of bones involving the upper extremities	1954	MEGF8	OMIM:614976
HP:0009142	Duplication of bones involving the upper extremities	7021	TFAP2B	ORPHA:46627
HP:0009142	Duplication of bones involving the upper extremities	54585	LZTFL1	OMIM:615994
HP:0009142	Duplication of bones involving the upper extremities	8195	MKKS	OMIM:236700
HP:0009142	Duplication of bones involving the upper extremities	51776	MAP3K20	OMIM:616890
HP:0009142	Duplication of bones involving the upper extremities	317662	FAM149B1	OMIM:618763
HP:0009142	Duplication of bones involving the upper extremities	8200	GDF5	ORPHA:93384
HP:0009142	Duplication of bones involving the upper extremities	658	BMPR1B	ORPHA:93384
HP:0009142	Duplication of bones involving the upper extremities	51715	RAB23	OMIM:201000
HP:0009142	Duplication of bones involving the upper extremities	55012	PPP2R3C	OMIM:618419
HP:0009142	Duplication of bones involving the upper extremities	5053	PAH	ORPHA:2209
HP:0009142	Duplication of bones involving the upper extremities	124583	CANT1	OMIM:251450
HP:0009142	Duplication of bones involving the upper extremities	100151683	RNU4ATAC	OMIM:210710
HP:0009142	Duplication of bones involving the upper extremities	4920	ROR2	OMIM:268310
HP:0009142	Duplication of bones involving the upper extremities	7474	WNT5A	OMIM:180700
HP:0009142	Duplication of bones involving the upper extremities	2702	GJA5	OMIM:612474
HP:0009142	Duplication of bones involving the upper extremities	2703	GJA8	OMIM:612474
HP:0009142	Duplication of bones involving the upper extremities	29089	UBE2T	OMIM:616435
HP:0009142	Duplication of bones involving the upper extremities	2261	FGFR3	OMIM:620192
HP:0009142	Duplication of bones involving the upper extremities	2261	FGFR3	ORPHA:2363
HP:0009142	Duplication of bones involving the upper extremities	2255	FGF10	ORPHA:2363
HP:0009142	Duplication of bones involving the upper extremities	22856	CHSY1	ORPHA:363417
HP:0009142	Duplication of bones involving the upper extremities	71	ACTG1	ORPHA:2995
HP:0009142	Duplication of bones involving the upper extremities	60	ACTB	ORPHA:2995
HP:0009142	Duplication of bones involving the upper extremities	2176	FANCC	OMIM:227645
HP:0009142	Duplication of bones involving the upper extremities	2178	FANCE	OMIM:600901
HP:0009142	Duplication of bones involving the upper extremities	157570	ESCO2	ORPHA:3103
HP:0009142	Duplication of bones involving the upper extremities	6472	SHMT2	OMIM:619121
HP:0009142	Duplication of bones involving the upper extremities	8260	NAA10	ORPHA:568
HP:0009142	Duplication of bones involving the upper extremities	54880	BCOR	ORPHA:568
HP:0009142	Duplication of bones involving the upper extremities	2175	FANCA	OMIM:227650
HP:0009142	Duplication of bones involving the upper extremities	6910	TBX5	OMIM:142900
HP:0009142	Duplication of bones involving the upper extremities	6135	RPL11	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6138	RPL15	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6229	RPS24	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6125	RPL5	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6204	RPS10	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6224	RPS20	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6165	RPL35A	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	2623	GATA1	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6223	RPS19	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6223	RPS19	OMIM:105650
HP:0009142	Duplication of bones involving the upper extremities	6232	RPS27	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6231	RPS26	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	11224	RPL35	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6160	RPL31	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6218	RPS17	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6201	RPS7	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6155	RPL27	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6154	RPL26	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6210	RPS15A	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	90121	TSR2	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6141	RPL18	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6235	RPS29	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	6234	RPS28	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	51816	ADA2	ORPHA:124
HP:0009142	Duplication of bones involving the upper extremities	1855	DVL1	OMIM:616331
HP:0009142	Duplication of bones involving the upper extremities	57122	NUP107	OMIM:616730
HP:0009142	Duplication of bones involving the upper extremities	57122	NUP107	OMIM:618348
HP:0009142	Duplication of bones involving the upper extremities	10992	SF3B2	OMIM:164210
HP:0009142	Duplication of bones involving the upper extremities	27152	INTU	OMIM:617926
HP:0009142	Duplication of bones involving the upper extremities	7291	TWIST1	OMIM:101400
HP:0009142	Duplication of bones involving the upper extremities	23592	LEMD3	ORPHA:1879
HP:0009142	Duplication of bones involving the upper extremities	83479	DDX59	ORPHA:2919
HP:0009997	Duplication of phalanx of hand	54806	AHI1	ORPHA:475
HP:0009997	Duplication of phalanx of hand	54806	AHI1	ORPHA:220493
HP:0009997	Duplication of phalanx of hand	200894	ARL13B	ORPHA:475
HP:0009997	Duplication of phalanx of hand	9731	CEP104	ORPHA:475
HP:0009997	Duplication of phalanx of hand	23247	KATNIP	ORPHA:475
HP:0009997	Duplication of phalanx of hand	219854	TMEM218	ORPHA:475
HP:0009997	Duplication of phalanx of hand	95681	CEP41	ORPHA:475
HP:0009997	Duplication of phalanx of hand	95681	CEP41	ORPHA:220493
HP:0009997	Duplication of phalanx of hand	9786	KIAA0586	ORPHA:475
HP:0009997	Duplication of phalanx of hand	10464	PIBF1	ORPHA:475
HP:0009997	Duplication of phalanx of hand	23116	TOGARAM1	ORPHA:475
HP:0009997	Duplication of phalanx of hand	25776	CBY1	ORPHA:475
HP:0009997	Duplication of phalanx of hand	403	ARL3	ORPHA:475
HP:0009997	Duplication of phalanx of hand	10682	EBP	ORPHA:401973
HP:0009997	Duplication of phalanx of hand	5626	PROP1	ORPHA:226307
HP:0009997	Duplication of phalanx of hand	89884	LHX4	ORPHA:226307
HP:0009997	Duplication of phalanx of hand	8022	LHX3	ORPHA:226307
HP:0009997	Duplication of phalanx of hand	5449	POU1F1	ORPHA:226307
HP:0009997	Duplication of phalanx of hand	8820	HESX1	ORPHA:226307
HP:0009997	Duplication of phalanx of hand	1947	EFNB1	ORPHA:1520
HP:0009997	Duplication of phalanx of hand	5290	PIK3CA	ORPHA:60040
HP:0009997	Duplication of phalanx of hand	10908	PNPLA6	ORPHA:2377
HP:0009997	Duplication of phalanx of hand	51	ACOX1	ORPHA:2971
HP:0009997	Duplication of phalanx of hand	2187	FANCB	OMIM:314390
HP:0009997	Duplication of phalanx of hand	7547	ZIC3	OMIM:314390
HP:0009997	Duplication of phalanx of hand	641	BLM	OMIM:210900
HP:0009997	Duplication of phalanx of hand	2314	FLII	ORPHA:819
HP:0009997	Duplication of phalanx of hand	23096	IQSEC2	ORPHA:819
HP:0009997	Duplication of phalanx of hand	10743	RAI1	ORPHA:819
HP:0009997	Duplication of phalanx of hand	10522	DEAF1	ORPHA:819
HP:0009997	Duplication of phalanx of hand	26154	ABCA12	ORPHA:457
HP:0009997	Duplication of phalanx of hand	8241	RBM10	ORPHA:2886
HP:0009997	Duplication of phalanx of hand	1312	COMT	ORPHA:567
HP:0009997	Duplication of phalanx of hand	221037	JMJD1C	ORPHA:567
HP:0009997	Duplication of phalanx of hand	2812	GP1BB	ORPHA:567
HP:0009997	Duplication of phalanx of hand	6239	RREB1	ORPHA:567
HP:0009997	Duplication of phalanx of hand	6899	TBX1	ORPHA:567
HP:0009997	Duplication of phalanx of hand	7290	HIRA	ORPHA:567
HP:0009997	Duplication of phalanx of hand	9632	SEC24C	ORPHA:567
HP:0009997	Duplication of phalanx of hand	7353	UFD1	ORPHA:567
HP:0009997	Duplication of phalanx of hand	421	ARVCF	ORPHA:567
HP:0009997	Duplication of phalanx of hand	51524	TMEM138	ORPHA:2318
HP:0009997	Duplication of phalanx of hand	23090	ZNF423	ORPHA:2318
HP:0009997	Duplication of phalanx of hand	10210	TOPORS	ORPHA:2754
HP:0009997	Duplication of phalanx of hand	9897	WASHC5	ORPHA:7
HP:0009997	Duplication of phalanx of hand	28952	CCDC22	ORPHA:7
HP:0009997	Duplication of phalanx of hand	5566	PRKACA	ORPHA:289
HP:0009997	Duplication of phalanx of hand	25970	SH2B1	ORPHA:261197
HP:0009997	Duplication of phalanx of hand	5728	PTEN	ORPHA:65285
HP:0009997	Duplication of phalanx of hand	6469	SHH	ORPHA:93405
HP:0009997	Duplication of phalanx of hand	55636	CHD7	OMIM:214800
HP:0009997	Duplication of phalanx of hand	2313	FLI1	ORPHA:2308
HP:0009997	Duplication of phalanx of hand	6309	SC5D	ORPHA:46059
HP:0009997	Duplication of phalanx of hand	6309	SC5D	OMIM:607330
HP:0009997	Duplication of phalanx of hand	894	CCND2	ORPHA:83473
HP:0009997	Duplication of phalanx of hand	894	CCND2	OMIM:615938
HP:0009997	Duplication of phalanx of hand	5296	PIK3R2	ORPHA:83473
HP:0009997	Duplication of phalanx of hand	10000	AKT3	ORPHA:83473
HP:0009997	Duplication of phalanx of hand	10000	AKT3	OMIM:615937
HP:0009997	Duplication of phalanx of hand	26160	IFT172	OMIM:615630
HP:0009997	Duplication of phalanx of hand	26160	IFT172	ORPHA:474
HP:0009997	Duplication of phalanx of hand	26160	IFT172	OMIM:619471
HP:0009997	Duplication of phalanx of hand	26160	IFT172	ORPHA:110
HP:0009997	Duplication of phalanx of hand	56623	INPP5E	OMIM:213300
HP:0009997	Duplication of phalanx of hand	56623	INPP5E	ORPHA:1454
HP:0009997	Duplication of phalanx of hand	55593	OTUD5	OMIM:301056
HP:0009997	Duplication of phalanx of hand	1717	DHCR7	ORPHA:818
HP:0009997	Duplication of phalanx of hand	1717	DHCR7	OMIM:270400
HP:0009997	Duplication of phalanx of hand	10225	CD96	OMIM:211750
HP:0009997	Duplication of phalanx of hand	6926	TBX3	ORPHA:3138
HP:0009997	Duplication of phalanx of hand	6926	TBX3	OMIM:181450
HP:0009997	Duplication of phalanx of hand	7476	WNT7A	OMIM:228930
HP:0009997	Duplication of phalanx of hand	84100	ARL6	OMIM:209900
HP:0009997	Duplication of phalanx of hand	84100	ARL6	ORPHA:110
HP:0009997	Duplication of phalanx of hand	79140	CCDC28B	OMIM:209900
HP:0009997	Duplication of phalanx of hand	582	BBS1	OMIM:209900
HP:0009997	Duplication of phalanx of hand	582	BBS1	ORPHA:110
HP:0009997	Duplication of phalanx of hand	3209	HOXA13	ORPHA:2438
HP:0009997	Duplication of phalanx of hand	3209	HOXA13	OMIM:176305
HP:0009997	Duplication of phalanx of hand	64093	SMOC1	ORPHA:1106
HP:0009997	Duplication of phalanx of hand	64093	SMOC1	OMIM:206920
HP:0009997	Duplication of phalanx of hand	5147	PDE6D	OMIM:615665
HP:0009997	Duplication of phalanx of hand	26005	C2CD3	OMIM:615948
HP:0009997	Duplication of phalanx of hand	26005	C2CD3	ORPHA:434179
HP:0009997	Duplication of phalanx of hand	26040	SETBP1	OMIM:269150
HP:0009997	Duplication of phalanx of hand	2121	EVC	ORPHA:952
HP:0009997	Duplication of phalanx of hand	2121	EVC	OMIM:193530
HP:0009997	Duplication of phalanx of hand	2121	EVC	OMIM:225500
HP:0009997	Duplication of phalanx of hand	132884	EVC2	ORPHA:952
HP:0009997	Duplication of phalanx of hand	132884	EVC2	OMIM:193530
HP:0009997	Duplication of phalanx of hand	132884	EVC2	OMIM:225500
HP:0009997	Duplication of phalanx of hand	153241	CEP120	ORPHA:474
HP:0009997	Duplication of phalanx of hand	51626	DYNC2LI1	ORPHA:474
HP:0009997	Duplication of phalanx of hand	51626	DYNC2LI1	OMIM:617088
HP:0009997	Duplication of phalanx of hand	9742	IFT140	ORPHA:474
HP:0009997	Duplication of phalanx of hand	9742	IFT140	OMIM:266920
HP:0009997	Duplication of phalanx of hand	57728	WDR19	ORPHA:474
HP:0009997	Duplication of phalanx of hand	79809	TTC21B	ORPHA:474
HP:0009997	Duplication of phalanx of hand	64840	PORCN	OMIM:305600
HP:0009997	Duplication of phalanx of hand	92482	BBIP1	ORPHA:110
HP:0009997	Duplication of phalanx of hand	11020	IFT27	ORPHA:110
HP:0009997	Duplication of phalanx of hand	49855	SCAPER	ORPHA:110
HP:0009997	Duplication of phalanx of hand	4867	NPHP1	ORPHA:110
HP:0009997	Duplication of phalanx of hand	27241	BBS9	ORPHA:110
HP:0009997	Duplication of phalanx of hand	27241	BBS9	OMIM:615986
HP:0009997	Duplication of phalanx of hand	84984	CEP19	ORPHA:110
HP:0009997	Duplication of phalanx of hand	22954	TRIM32	ORPHA:110
HP:0009997	Duplication of phalanx of hand	79738	BBS10	ORPHA:110
HP:0009997	Duplication of phalanx of hand	123016	TTC8	ORPHA:110
HP:0009997	Duplication of phalanx of hand	583	BBS2	ORPHA:110
HP:0009997	Duplication of phalanx of hand	583	BBS2	OMIM:615981
HP:0009997	Duplication of phalanx of hand	585	BBS4	ORPHA:110
HP:0009997	Duplication of phalanx of hand	55212	BBS7	ORPHA:110
HP:0009997	Duplication of phalanx of hand	166379	BBS12	ORPHA:110
HP:0009997	Duplication of phalanx of hand	166379	BBS12	OMIM:615989
HP:0009997	Duplication of phalanx of hand	10806	SDCCAG8	ORPHA:110
HP:0009997	Duplication of phalanx of hand	157657	CFAP418	ORPHA:110
HP:0009997	Duplication of phalanx of hand	157657	CFAP418	OMIM:617406
HP:0009997	Duplication of phalanx of hand	129880	BBS5	ORPHA:110
HP:0009997	Duplication of phalanx of hand	80173	IFT74	ORPHA:110
HP:0009997	Duplication of phalanx of hand	79005	SCNM1	OMIM:620107
HP:0009997	Duplication of phalanx of hand	54499	TMCO1	OMIM:213980
HP:0009997	Duplication of phalanx of hand	2736	GLI2	OMIM:610829
HP:0009997	Duplication of phalanx of hand	51360	MBTPS2	OMIM:308205
HP:0009997	Duplication of phalanx of hand	51360	MBTPS2	ORPHA:85284
HP:0009997	Duplication of phalanx of hand	80210	ARMC9	OMIM:617622
HP:0009997	Duplication of phalanx of hand	9373	PLAA	ORPHA:521426
HP:0009997	Duplication of phalanx of hand	2316	FLNA	OMIM:304120
HP:0009997	Duplication of phalanx of hand	3930	LBR	OMIM:215140
HP:0009997	Duplication of phalanx of hand	2239	GPC4	ORPHA:373
HP:0009997	Duplication of phalanx of hand	2239	GPC4	OMIM:312870
HP:0009997	Duplication of phalanx of hand	2719	GPC3	ORPHA:373
HP:0009997	Duplication of phalanx of hand	2719	GPC3	OMIM:312870
HP:0009997	Duplication of phalanx of hand	51684	SUFU	OMIM:617757
HP:0009997	Duplication of phalanx of hand	257	ALX3	OMIM:136760
HP:0009997	Duplication of phalanx of hand	23288	IQCE	OMIM:617642
HP:0009997	Duplication of phalanx of hand	5567	PRKACB	OMIM:619143
HP:0009997	Duplication of phalanx of hand	137392	CIBAR1	OMIM:618219
HP:0009997	Duplication of phalanx of hand	7700	ZNF141	OMIM:615226
HP:0009997	Duplication of phalanx of hand	9851	KIAA0753	OMIM:617127
HP:0009997	Duplication of phalanx of hand	7046	TGFBR1	OMIM:609192
HP:0009997	Duplication of phalanx of hand	255758	DYNLT2B	OMIM:617405
HP:0009997	Duplication of phalanx of hand	57167	SALL4	ORPHA:233
HP:0009997	Duplication of phalanx of hand	57167	SALL4	ORPHA:959
HP:0009997	Duplication of phalanx of hand	57167	SALL4	ORPHA:2307
HP:0009997	Duplication of phalanx of hand	9935	MAFB	ORPHA:233
HP:0009997	Duplication of phalanx of hand	1123	CHN1	ORPHA:233
HP:0009997	Duplication of phalanx of hand	2137	EXTL3	ORPHA:508533
HP:0009997	Duplication of phalanx of hand	22827	PUF60	ORPHA:508498
HP:0009997	Duplication of phalanx of hand	65250	CPLANE1	OMIM:277170
HP:0009997	Duplication of phalanx of hand	6608	SMO	OMIM:601707
HP:0009997	Duplication of phalanx of hand	6608	SMO	ORPHA:1553
HP:0009997	Duplication of phalanx of hand	4750	NEK1	OMIM:263520
HP:0009997	Duplication of phalanx of hand	2737	GLI3	OMIM:175700
HP:0009997	Duplication of phalanx of hand	2737	GLI3	ORPHA:380
HP:0009997	Duplication of phalanx of hand	2737	GLI3	OMIM:174200
HP:0009997	Duplication of phalanx of hand	64327	LMBR1	ORPHA:2378
HP:0009997	Duplication of phalanx of hand	64327	LMBR1	OMIM:174500
HP:0009997	Duplication of phalanx of hand	55027	HEATR3	OMIM:620072
HP:0009997	Duplication of phalanx of hand	6299	SALL1	OMIM:107480
HP:0009997	Duplication of phalanx of hand	6299	SALL1	ORPHA:857
HP:0009997	Duplication of phalanx of hand	55112	DYNC2I1	ORPHA:93271
HP:0009997	Duplication of phalanx of hand	57560	IFT80	ORPHA:93271
HP:0009997	Duplication of phalanx of hand	57539	WDR35	ORPHA:93271
HP:0009997	Duplication of phalanx of hand	79659	DYNC2H1	ORPHA:93271
HP:0009997	Duplication of phalanx of hand	89891	DYNC2I2	ORPHA:93271
HP:0009997	Duplication of phalanx of hand	374879	ZNF699	OMIM:619488
HP:0009997	Duplication of phalanx of hand	374654	KIF7	OMIM:200990
HP:0009997	Duplication of phalanx of hand	8318	CDC45	OMIM:617063
HP:0009997	Duplication of phalanx of hand	51339	DACT1	ORPHA:857
HP:0009997	Duplication of phalanx of hand	2177	FANCD2	OMIM:227646
HP:0009997	Duplication of phalanx of hand	727857	BHLHA9	ORPHA:3329
HP:0009997	Duplication of phalanx of hand	23133	PHF8	ORPHA:85287
HP:0009997	Duplication of phalanx of hand	8481	OFD1	ORPHA:2750
HP:0009997	Duplication of phalanx of hand	219844	HYLS1	OMIM:236680
HP:0009997	Duplication of phalanx of hand	26123	TCTN3	ORPHA:2753
HP:0009997	Duplication of phalanx of hand	26123	TCTN3	ORPHA:564
HP:0009997	Duplication of phalanx of hand	2697	GJA1	ORPHA:2710
HP:0009997	Duplication of phalanx of hand	3239	HOXD13	ORPHA:887
HP:0009997	Duplication of phalanx of hand	7020	TFAP2A	OMIM:113620
HP:0009997	Duplication of phalanx of hand	7020	TFAP2A	ORPHA:1297
HP:0009997	Duplication of phalanx of hand	84314	TMEM107	ORPHA:564
HP:0009997	Duplication of phalanx of hand	79867	TCTN2	ORPHA:564
HP:0009997	Duplication of phalanx of hand	80776	B9D2	ORPHA:564
HP:0009997	Duplication of phalanx of hand	79600	TCTN1	ORPHA:564
HP:0009997	Duplication of phalanx of hand	57096	RPGRIP1	ORPHA:564
HP:0009997	Duplication of phalanx of hand	79848	CSPP1	ORPHA:564
HP:0009997	Duplication of phalanx of hand	80184	CEP290	ORPHA:564
HP:0009997	Duplication of phalanx of hand	51259	TMEM216	ORPHA:564
HP:0009997	Duplication of phalanx of hand	57545	CC2D2A	ORPHA:564
HP:0009997	Duplication of phalanx of hand	79583	TMEM231	ORPHA:564
HP:0009997	Duplication of phalanx of hand	91147	TMEM67	ORPHA:564
HP:0009997	Duplication of phalanx of hand	79770	TXNDC15	ORPHA:564
HP:0009997	Duplication of phalanx of hand	27077	B9D1	ORPHA:564
HP:0009997	Duplication of phalanx of hand	23322	RPGRIP1L	ORPHA:564
HP:0009997	Duplication of phalanx of hand	54903	MKS1	ORPHA:564
HP:0009997	Duplication of phalanx of hand	65062	TMEM237	ORPHA:564
HP:0009997	Duplication of phalanx of hand	10815	CPLX1	ORPHA:280
HP:0009997	Duplication of phalanx of hand	10815	CPLX1	OMIM:194190
HP:0009997	Duplication of phalanx of hand	54872	PIGG	ORPHA:280
HP:0009997	Duplication of phalanx of hand	7469	NELFA	ORPHA:280
HP:0009997	Duplication of phalanx of hand	1487	CTBP1	ORPHA:280
HP:0009997	Duplication of phalanx of hand	1487	CTBP1	OMIM:194190
HP:0009997	Duplication of phalanx of hand	3954	LETM1	ORPHA:280
HP:0009997	Duplication of phalanx of hand	3954	LETM1	OMIM:194190
HP:0009997	Duplication of phalanx of hand	7468	NSD2	ORPHA:280
HP:0009997	Duplication of phalanx of hand	7468	NSD2	OMIM:194190
HP:0009997	Duplication of phalanx of hand	2735	GLI1	OMIM:174400
HP:0009997	Duplication of phalanx of hand	53834	FGFRL1	OMIM:194190
HP:0009997	Duplication of phalanx of hand	9343	EFTUD2	OMIM:610536
HP:0009997	Duplication of phalanx of hand	9343	EFTUD2	ORPHA:79113
HP:0009997	Duplication of phalanx of hand	2263	FGFR2	OMIM:101200
HP:0009997	Duplication of phalanx of hand	285600	KIAA0825	OMIM:618498
HP:0009997	Duplication of phalanx of hand	51057	WDPCP	OMIM:217085
HP:0009997	Duplication of phalanx of hand	1954	MEGF8	OMIM:614976
HP:0009997	Duplication of phalanx of hand	7021	TFAP2B	ORPHA:46627
HP:0009997	Duplication of phalanx of hand	54585	LZTFL1	OMIM:615994
HP:0009997	Duplication of phalanx of hand	8195	MKKS	OMIM:236700
HP:0009997	Duplication of phalanx of hand	51776	MAP3K20	OMIM:616890
HP:0009997	Duplication of phalanx of hand	317662	FAM149B1	OMIM:618763
HP:0009997	Duplication of phalanx of hand	8200	GDF5	ORPHA:93384
HP:0009997	Duplication of phalanx of hand	658	BMPR1B	ORPHA:93384
HP:0009997	Duplication of phalanx of hand	51715	RAB23	OMIM:201000
HP:0009997	Duplication of phalanx of hand	55012	PPP2R3C	OMIM:618419
HP:0009997	Duplication of phalanx of hand	5053	PAH	ORPHA:2209
HP:0009997	Duplication of phalanx of hand	124583	CANT1	OMIM:251450
HP:0009997	Duplication of phalanx of hand	100151683	RNU4ATAC	OMIM:210710
HP:0009997	Duplication of phalanx of hand	4920	ROR2	OMIM:268310
HP:0009997	Duplication of phalanx of hand	7474	WNT5A	OMIM:180700
HP:0009997	Duplication of phalanx of hand	2702	GJA5	OMIM:612474
HP:0009997	Duplication of phalanx of hand	2703	GJA8	OMIM:612474
HP:0009997	Duplication of phalanx of hand	29089	UBE2T	OMIM:616435
HP:0009997	Duplication of phalanx of hand	2261	FGFR3	OMIM:620192
HP:0009997	Duplication of phalanx of hand	2261	FGFR3	ORPHA:2363
HP:0009997	Duplication of phalanx of hand	2255	FGF10	ORPHA:2363
HP:0009997	Duplication of phalanx of hand	22856	CHSY1	ORPHA:363417
HP:0009997	Duplication of phalanx of hand	71	ACTG1	ORPHA:2995
HP:0009997	Duplication of phalanx of hand	60	ACTB	ORPHA:2995
HP:0009997	Duplication of phalanx of hand	2176	FANCC	OMIM:227645
HP:0009997	Duplication of phalanx of hand	2178	FANCE	OMIM:600901
HP:0009997	Duplication of phalanx of hand	157570	ESCO2	ORPHA:3103
HP:0009997	Duplication of phalanx of hand	6472	SHMT2	OMIM:619121
HP:0009997	Duplication of phalanx of hand	8260	NAA10	ORPHA:568
HP:0009997	Duplication of phalanx of hand	54880	BCOR	ORPHA:568
HP:0009997	Duplication of phalanx of hand	2175	FANCA	OMIM:227650
HP:0009997	Duplication of phalanx of hand	6910	TBX5	OMIM:142900
HP:0009997	Duplication of phalanx of hand	6135	RPL11	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6138	RPL15	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6229	RPS24	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6125	RPL5	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6204	RPS10	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6224	RPS20	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6165	RPL35A	ORPHA:124
HP:0009997	Duplication of phalanx of hand	2623	GATA1	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6223	RPS19	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6223	RPS19	OMIM:105650
HP:0009997	Duplication of phalanx of hand	6232	RPS27	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6231	RPS26	ORPHA:124
HP:0009997	Duplication of phalanx of hand	11224	RPL35	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6160	RPL31	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6218	RPS17	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6201	RPS7	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6155	RPL27	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6154	RPL26	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6210	RPS15A	ORPHA:124
HP:0009997	Duplication of phalanx of hand	90121	TSR2	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6141	RPL18	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6235	RPS29	ORPHA:124
HP:0009997	Duplication of phalanx of hand	6234	RPS28	ORPHA:124
HP:0009997	Duplication of phalanx of hand	51816	ADA2	ORPHA:124
HP:0009997	Duplication of phalanx of hand	1855	DVL1	OMIM:616331
HP:0009997	Duplication of phalanx of hand	57122	NUP107	OMIM:616730
HP:0009997	Duplication of phalanx of hand	57122	NUP107	OMIM:618348
HP:0009997	Duplication of phalanx of hand	10992	SF3B2	OMIM:164210
HP:0009997	Duplication of phalanx of hand	27152	INTU	OMIM:617926
HP:0009997	Duplication of phalanx of hand	7291	TWIST1	OMIM:101400
HP:0009997	Duplication of phalanx of hand	23592	LEMD3	ORPHA:1879
HP:0009997	Duplication of phalanx of hand	83479	DDX59	ORPHA:2919
HP:0009144	Supernumerary bones of the axial skeleton	2627	GATA6	OMIM:600001
HP:0009144	Supernumerary bones of the axial skeleton	2627	GATA6	ORPHA:2255
HP:0009144	Supernumerary bones of the axial skeleton	22827	PUF60	ORPHA:508488
HP:0009144	Supernumerary bones of the axial skeleton	860	RUNX2	OMIM:119600
HP:0009144	Supernumerary bones of the axial skeleton	5159	PDGFRB	OMIM:601812
HP:0009144	Supernumerary bones of the axial skeleton	29123	ANKRD11	OMIM:148050
HP:0009144	Supernumerary bones of the axial skeleton	29123	ANKRD11	ORPHA:2332
HP:0009144	Supernumerary bones of the axial skeleton	6651	SON	OMIM:617140
HP:0009144	Supernumerary bones of the axial skeleton	6651	SON	ORPHA:500150
HP:0009144	Supernumerary bones of the axial skeleton	3899	AFF3	OMIM:619297
HP:0009144	Supernumerary bones of the axial skeleton	2719	GPC3	OMIM:312870
HP:0009144	Supernumerary bones of the axial skeleton	2239	GPC4	OMIM:312870
HP:0009144	Supernumerary bones of the axial skeleton	9939	RBM8A	ORPHA:3320
HP:0009144	Supernumerary bones of the axial skeleton	9939	RBM8A	OMIM:274000
HP:0009144	Supernumerary bones of the axial skeleton	10992	SF3B2	OMIM:164210
HP:0009144	Supernumerary bones of the axial skeleton	55081	IFT57	OMIM:617927
HP:0009144	Supernumerary bones of the axial skeleton	5077	PAX3	OMIM:193500
HP:0009144	Supernumerary bones of the axial skeleton	1723	DHODH	OMIM:263750
HP:0009144	Supernumerary bones of the axial skeleton	8517	IKBKG	ORPHA:464
HP:0009144	Supernumerary bones of the axial skeleton	8517	IKBKG	OMIM:308300
HP:0009144	Supernumerary bones of the axial skeleton	6497	SKI	OMIM:182212
HP:0009144	Supernumerary bones of the axial skeleton	4094	MAF	ORPHA:1272
HP:0009144	Supernumerary bones of the axial skeleton	10651	MTX2	OMIM:619127
HP:0009144	Supernumerary bones of the axial skeleton	10220	GDF11	OMIM:619122
HP:0009144	Supernumerary bones of the axial skeleton	25836	NIPBL	OMIM:122470
HP:0009144	Supernumerary bones of the axial skeleton	60	ACTB	ORPHA:64755
HP:0009144	Supernumerary bones of the axial skeleton	4990	SIX6	OMIM:206900
HP:0009144	Supernumerary bones of the axial skeleton	6657	SOX2	OMIM:206900
HP:0009144	Supernumerary bones of the axial skeleton	286	ANK1	ORPHA:251066
HP:0009144	Supernumerary bones of the axial skeleton	6231	RPS26	OMIM:613309
HP:0009144	Supernumerary bones of the axial skeleton	6911	TBX6	OMIM:122600
HP:0009144	Supernumerary bones of the axial skeleton	5727	PTCH1	OMIM:109400
HP:0009145	Abnormal cerebral artery morphology	6575	SLC20A2	OMIM:213600
HP:0009145	Abnormal cerebral artery morphology	5155	PDGFB	OMIM:213600
HP:0009145	Abnormal cerebral artery morphology	5159	PDGFRB	OMIM:213600
HP:0009145	Abnormal cerebral artery morphology	50485	SMARCAL1	ORPHA:1830
HP:0009145	Abnormal cerebral artery morphology	5654	HTRA1	OMIM:600142
HP:0009145	Abnormal cerebral artery morphology	351	APP	OMIM:605714
HP:0009145	Abnormal cerebral artery morphology	4088	SMAD3	OMIM:613795
HP:0009145	Abnormal cerebral artery morphology	5832	ALDH18A1	OMIM:616603
HP:0009145	Abnormal cerebral artery morphology	1289	COL5A1	OMIM:619329
HP:0009145	Abnormal cerebral artery morphology	10526	IPO8	OMIM:619472
HP:0009145	Abnormal cerebral artery morphology	51726	DNAJB11	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	23193	GANAB	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	23193	GANAB	OMIM:600666
HP:0009145	Abnormal cerebral artery morphology	5310	PKD1	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	5311	PKD2	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	29880	ALG5	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	9742	IFT140	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	79796	ALG9	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	80114	BICC1	ORPHA:730
HP:0009145	Abnormal cerebral artery morphology	6772	STAT1	ORPHA:391487
HP:0009145	Abnormal cerebral artery morphology	10043	TOM1	ORPHA:391487
HP:0009145	Abnormal cerebral artery morphology	6711	SPTBN1	OMIM:619475
HP:0009145	Abnormal cerebral artery morphology	2548	GAA	OMIM:232300
HP:0009145	Abnormal cerebral artery morphology	4087	SMAD2	OMIM:619656
HP:0009145	Abnormal cerebral artery morphology	4087	SMAD2	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	1282	COL4A1	OMIM:611773
HP:0009145	Abnormal cerebral artery morphology	7048	TGFBR2	OMIM:610168
HP:0009145	Abnormal cerebral artery morphology	7048	TGFBR2	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	10056	FARSB	OMIM:613658
HP:0009145	Abnormal cerebral artery morphology	5589	PRKCSH	OMIM:174050
HP:0009145	Abnormal cerebral artery morphology	4796	TONSL	ORPHA:93357
HP:0009145	Abnormal cerebral artery morphology	2677	GGCX	ORPHA:91135
HP:0009145	Abnormal cerebral artery morphology	1277	COL1A1	ORPHA:287
HP:0009145	Abnormal cerebral artery morphology	1290	COL5A2	ORPHA:287
HP:0009145	Abnormal cerebral artery morphology	633	BGN	OMIM:300989
HP:0009145	Abnormal cerebral artery morphology	8985	PLOD3	OMIM:612394
HP:0009145	Abnormal cerebral artery morphology	7046	TGFBR1	OMIM:609192
HP:0009145	Abnormal cerebral artery morphology	7046	TGFBR1	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	5573	PRKAR1A	ORPHA:615
HP:0009145	Abnormal cerebral artery morphology	5573	PRKAR1A	ORPHA:1359
HP:0009145	Abnormal cerebral artery morphology	4015	LOX	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	7043	TGFB3	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	7042	TGFB2	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	4089	SMAD4	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	2200	FBN1	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	5592	PRKG1	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	2301	FOXE3	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	4144	MAT2A	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	23493	HEY2	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	8076	MFAP5	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	4638	MYLK	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	2006	ELN	ORPHA:91387
HP:0009145	Abnormal cerebral artery morphology	50940	PDE11A	ORPHA:1359
HP:0009145	Abnormal cerebral artery morphology	3949	LDLR	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	255738	PCSK9	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	338	APOB	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	64240	ABCG5	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	64241	ABCG8	ORPHA:391665
HP:0009145	Abnormal cerebral artery morphology	54820	NDE1	ORPHA:2177
HP:0009145	Abnormal cerebral artery morphology	57674	RNF213	OMIM:607151
HP:0009145	Abnormal cerebral artery morphology	4774	NFIA	ORPHA:401986
HP:0009145	Abnormal cerebral artery morphology	5116	PCNT	OMIM:210720
HP:0009145	Abnormal cerebral artery morphology	79184	BRCC3	ORPHA:280679
HP:0009145	Abnormal cerebral artery morphology	59	ACTA2	OMIM:611788
HP:0009145	Abnormal cerebral artery morphology	59	ACTA2	OMIM:614042
HP:0009145	Abnormal cerebral artery morphology	10535	RNASEH2A	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	84153	RNASEH2C	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	25939	SAMHD1	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	79621	RNASEH2B	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	103	ADAR	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	11277	TREX1	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	100147744	RNU7-1	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	134353	LSM11	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	64135	IFIH1	ORPHA:51
HP:0009145	Abnormal cerebral artery morphology	2982	GUCY1A1	ORPHA:401945
HP:0009145	Abnormal cerebral artery morphology	2982	GUCY1A1	OMIM:615750
HP:0009145	Abnormal cerebral artery morphology	4763	NF1	ORPHA:97685
HP:0009145	Abnormal cerebral artery morphology	4629	MYH11	OMIM:132900
HP:0009145	Abnormal cerebral artery morphology	55901	THSD1	ORPHA:231160
HP:0009145	Abnormal cerebral artery morphology	7049	TGFBR3	ORPHA:231160
HP:0009145	Abnormal cerebral artery morphology	1281	COL3A1	ORPHA:231160
HP:0009145	Abnormal cerebral artery morphology	83854	ANGPTL6	ORPHA:231160
HP:0009145	Abnormal cerebral artery morphology	2022	ENG	ORPHA:231160
HP:0009145	Abnormal cerebral artery morphology	84667	HES7	OMIM:613686
HP:0001620	High pitched voice	57190	SELENON	ORPHA:324604
HP:0001620	High pitched voice	57190	SELENON	OMIM:602771
HP:0001620	High pitched voice	4625	MYH7	ORPHA:324604
HP:0001620	High pitched voice	7273	TTN	ORPHA:324604
HP:0001620	High pitched voice	5034	P4HB	OMIM:112240
HP:0001620	High pitched voice	26580	BSCL2	OMIM:269700
HP:0001620	High pitched voice	22880	MORC2	OMIM:616688
HP:0001620	High pitched voice	22880	MORC2	ORPHA:466768
HP:0001620	High pitched voice	3704	ITPA	OMIM:616647
HP:0001620	High pitched voice	9719	ADAMTSL2	OMIM:231050
HP:0001620	High pitched voice	4591	TRIM37	ORPHA:2576
HP:0001620	High pitched voice	4591	TRIM37	OMIM:253250
HP:0001620	High pitched voice	2887	GRB10	ORPHA:96182
HP:0001620	High pitched voice	4000	LMNA	ORPHA:740
HP:0001620	High pitched voice	10269	ZMPSTE24	ORPHA:740
HP:0001620	High pitched voice	5932	RBBP8	OMIM:606744
HP:0001620	High pitched voice	54453	RIN2	ORPHA:217335
HP:0001620	High pitched voice	54453	RIN2	OMIM:613075
HP:0001620	High pitched voice	9871	SEC24D	OMIM:616294
HP:0001620	High pitched voice	2690	GHR	OMIM:262500
HP:0001620	High pitched voice	2690	GHR	ORPHA:633
HP:0001620	High pitched voice	10651	MTX2	OMIM:619127
HP:0001620	High pitched voice	367	AR	ORPHA:90797
HP:0001620	High pitched voice	641	BLM	OMIM:210900
HP:0001620	High pitched voice	10847	SRCAP	ORPHA:2044
HP:0001620	High pitched voice	50485	SMARCAL1	OMIM:242900
HP:0001620	High pitched voice	7486	WRN	OMIM:277700
HP:0001620	High pitched voice	9968	MED12	OMIM:305450
HP:0001620	High pitched voice	84919	PPP1R15B	OMIM:616817
HP:0001620	High pitched voice	84919	PPP1R15B	ORPHA:391408
HP:0001620	High pitched voice	93587	TRMT10A	ORPHA:391408
HP:0001620	High pitched voice	6777	STAT5B	OMIM:245590
HP:0001620	High pitched voice	57492	ARID1B	OMIM:135900
HP:0001620	High pitched voice	2332	FMR1	ORPHA:261483
HP:0001620	High pitched voice	7518	XRCC4	OMIM:616541
HP:0001620	High pitched voice	4193	MDM2	OMIM:618681
HP:0001620	High pitched voice	5116	PCNT	ORPHA:2637
HP:0001620	High pitched voice	5116	PCNT	OMIM:210720
HP:0001620	High pitched voice	51594	NBAS	OMIM:614800
HP:0001620	High pitched voice	63901	FAM111A	OMIM:127000
HP:0001620	High pitched voice	63901	FAM111A	ORPHA:93325
HP:0001620	High pitched voice	3339	HSPG2	OMIM:255800
HP:0001620	High pitched voice	3339	HSPG2	ORPHA:800
HP:0001620	High pitched voice	2072	ERCC4	OMIM:610965
HP:0001620	High pitched voice	9927	MFN2	OMIM:617087
HP:0001620	High pitched voice	5424	POLD1	OMIM:615381
HP:0001620	High pitched voice	1501	CTNND2	ORPHA:281
HP:0001620	High pitched voice	9037	SEMA5A	ORPHA:281
HP:0001620	High pitched voice	127833	SYT2	OMIM:619461
HP:0001620	High pitched voice	1140	CHRNB1	OMIM:616313
HP:0001620	High pitched voice	5000	ORC4	OMIM:613800
HP:0001620	High pitched voice	25886	POC1A	OMIM:614813
HP:0001620	High pitched voice	871	SERPINH1	OMIM:613848
HP:0001620	High pitched voice	3480	IGF1R	OMIM:270450
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	9241	NOG	OMIM:184460
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	8200	GDF5	OMIM:615298
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	56992	KIF15	ORPHA:261323
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1280	COL2A1	OMIM:619248
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2121	EVC	OMIM:225500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	132884	EVC2	OMIM:225500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4256	MGP	OMIM:245150
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	3549	IHH	OMIM:112500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	54808	DYM	OMIM:223800
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4882	NPR2	OMIM:602875
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	26160	IFT172	OMIM:615630
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4750	NEK1	ORPHA:2751
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2131	EXT1	ORPHA:502
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	25839	COG4	OMIM:618150
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	25839	COG4	ORPHA:85172
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9742	IFT140	OMIM:617781
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	633	BGN	OMIM:300106
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	860	RUNX2	OMIM:119600
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9321	TRIP11	OMIM:184260
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	375056	MIA3	OMIM:619269
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	51098	IFT52	OMIM:617102
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	545	ATR	OMIM:210600
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	5573	PRKAR1A	OMIM:101800
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	6023	RMRP	OMIM:250460
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2879	GPX4	OMIM:250220
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	6399	TRAPPC2	ORPHA:93284
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2074	ERCC6	OMIM:133540
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1161	ERCC8	OMIM:216400
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4796	TONSL	ORPHA:93357
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1311	COMP	OMIM:177170
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	28957	MRPS28	OMIM:618958
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	415	ARSL	ORPHA:79345
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4883	NPR3	OMIM:619543
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	51715	RAB23	OMIM:201000
HP:0009162	Absent middle phalanx of 5th finger	2697	GJA1	OMIM:186100
HP:0009162	Absent middle phalanx of 5th finger	526	ATP6V1B2	OMIM:124480
HP:0009162	Absent middle phalanx of 5th finger	9742	IFT140	OMIM:266920
HP:0009172	Abnormal 4th finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0009172	Abnormal 4th finger phalanx morphology	9241	NOG	OMIM:186500
HP:0009172	Abnormal 4th finger phalanx morphology	8200	GDF5	OMIM:615072
HP:0009172	Abnormal 4th finger phalanx morphology	2122	MECOM	OMIM:616738
HP:0009178	Symphalangism of middle phalanx of 5th finger	9241	NOG	OMIM:186500
HP:0009178	Symphalangism of middle phalanx of 5th finger	9241	NOG	OMIM:184460
HP:0009178	Symphalangism of middle phalanx of 5th finger	4920	ROR2	OMIM:268310
HP:0009178	Symphalangism of middle phalanx of 5th finger	8200	GDF5	OMIM:615298
HP:0009178	Symphalangism of middle phalanx of 5th finger	727857	BHLHA9	OMIM:609432
HP:0009178	Symphalangism of middle phalanx of 5th finger	7021	TFAP2B	OMIM:169100
HP:0009182	Triangular shaped middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0009182	Triangular shaped middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0009182	Triangular shaped middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0009183	Joint contracture of the 5th finger	55315	SLC29A3	OMIM:602782
HP:0009183	Joint contracture of the 5th finger	5307	PITX1	OMIM:186550
HP:0009183	Joint contracture of the 5th finger	51114	ZDHHC9	OMIM:300799
HP:0009183	Joint contracture of the 5th finger	10664	CTCF	ORPHA:363611
HP:0009183	Joint contracture of the 5th finger	26053	AUTS2	ORPHA:352490
HP:0009183	Joint contracture of the 5th finger	219854	TMEM218	OMIM:619562
HP:0009183	Joint contracture of the 5th finger	23291	FBXW11	OMIM:618914
HP:0009183	Joint contracture of the 5th finger	79912	PYROXD1	OMIM:617258
HP:0009183	Joint contracture of the 5th finger	9757	KMT2B	OMIM:619934
HP:0009183	Joint contracture of the 5th finger	2697	GJA1	OMIM:164200
HP:0009183	Joint contracture of the 5th finger	3720	JARID2	OMIM:620098
HP:0009183	Joint contracture of the 5th finger	10765	KDM5B	OMIM:618109
HP:0009183	Joint contracture of the 5th finger	9487	PIGL	OMIM:280000
HP:0009183	Joint contracture of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009183	Joint contracture of the 5th finger	3977	LIFR	OMIM:601559
HP:0009183	Joint contracture of the 5th finger	10093	ARPC4	OMIM:620141
HP:0009189	Fragmentation of the metacarpal epiphyses	1297	COL9A1	ORPHA:166002
HP:0009189	Fragmentation of the metacarpal epiphyses	1298	COL9A2	ORPHA:166002
HP:0009189	Fragmentation of the metacarpal epiphyses	1299	COL9A3	ORPHA:166002
HP:0009190	Irregular epiphyses of the metacarpals	54928	BPNT2	OMIM:614078
HP:0009192	Aplasia/Hypoplasia of the proximal phalanx of the 5th finger	56992	KIF15	ORPHA:261323
HP:0001278	Orthostatic hypotension	1534	CYB561	OMIM:618182
HP:0001278	Orthostatic hypotension	8518	ELP1	OMIM:223900
HP:0001278	Orthostatic hypotension	8518	ELP1	ORPHA:1764
HP:0001278	Orthostatic hypotension	6622	SNCA	OMIM:605543
HP:0001278	Orthostatic hypotension	1621	DBH	ORPHA:230
HP:0001278	Orthostatic hypotension	1621	DBH	OMIM:223360
HP:0001278	Orthostatic hypotension	1136	CHRNA3	OMIM:191800
HP:0001278	Orthostatic hypotension	29926	GMPPA	OMIM:615510
HP:0001278	Orthostatic hypotension	1585	CYP11B2	OMIM:610600
HP:0001278	Orthostatic hypotension	1585	CYP11B2	ORPHA:556030
HP:0001278	Orthostatic hypotension	538	ATP7A	OMIM:304150
HP:0001278	Orthostatic hypotension	27235	COQ2	OMIM:146500
HP:0001278	Orthostatic hypotension	8086	AAAS	OMIM:231550
HP:0001278	Orthostatic hypotension	1277	COL1A1	ORPHA:287
HP:0001278	Orthostatic hypotension	1289	COL5A1	ORPHA:287
HP:0001278	Orthostatic hypotension	1290	COL5A2	ORPHA:287
HP:0001278	Orthostatic hypotension	2632	GBE1	OMIM:263570
HP:0001278	Orthostatic hypotension	857	CAV1	OMIM:606721
HP:0001278	Orthostatic hypotension	3594	IL12RB1	ORPHA:186
HP:0001278	Orthostatic hypotension	23534	TNPO3	ORPHA:186
HP:0001278	Orthostatic hypotension	3592	IL12A	ORPHA:186
HP:0001278	Orthostatic hypotension	6689	SPIB	ORPHA:186
HP:0001278	Orthostatic hypotension	5450	POU2AF1	ORPHA:186
HP:0001278	Orthostatic hypotension	9966	TNFSF15	ORPHA:186
HP:0001278	Orthostatic hypotension	79258	MMEL1	ORPHA:186
HP:0001278	Orthostatic hypotension	3663	IRF5	ORPHA:186
HP:0001278	Orthostatic hypotension	3074	HEXB	OMIM:268800
HP:0001278	Orthostatic hypotension	51142	CHCHD2	OMIM:616710
HP:0001278	Orthostatic hypotension	80208	SPG11	ORPHA:2822
HP:0001278	Orthostatic hypotension	4001	LMNB1	ORPHA:99027
HP:0001278	Orthostatic hypotension	4914	NTRK1	ORPHA:642
HP:0001278	Orthostatic hypotension	410	ARSA	ORPHA:309271
HP:0001278	Orthostatic hypotension	5660	PSAP	ORPHA:309271
HP:0001278	Orthostatic hypotension	2934	GSN	ORPHA:85448
HP:0001278	Orthostatic hypotension	3953	LEPR	ORPHA:179494
HP:0001278	Orthostatic hypotension	2629	GBA1	ORPHA:411602
HP:0001278	Orthostatic hypotension	23317	DNAJC13	ORPHA:411602
HP:0001278	Orthostatic hypotension	1981	EIF4G1	ORPHA:411602
HP:0001278	Orthostatic hypotension	55737	VPS35	ORPHA:411602
HP:0001278	Orthostatic hypotension	120892	LRRK2	ORPHA:411602
HP:0001278	Orthostatic hypotension	26058	GIGYF2	ORPHA:411602
HP:0001278	Orthostatic hypotension	3952	LEP	ORPHA:66628
HP:0001278	Orthostatic hypotension	7276	TTR	OMIM:105210
HP:0001278	Orthostatic hypotension	6492	SIM1	ORPHA:369873
HP:0002615	Hypotension	1534	CYB561	OMIM:618182
HP:0002615	Hypotension	8518	ELP1	OMIM:223900
HP:0002615	Hypotension	8518	ELP1	ORPHA:1764
HP:0002615	Hypotension	6622	SNCA	OMIM:605543
HP:0002615	Hypotension	1621	DBH	ORPHA:230
HP:0002615	Hypotension	1621	DBH	OMIM:223360
HP:0002615	Hypotension	1136	CHRNA3	OMIM:191800
HP:0002615	Hypotension	29926	GMPPA	OMIM:615510
HP:0002615	Hypotension	1585	CYP11B2	OMIM:610600
HP:0002615	Hypotension	1585	CYP11B2	ORPHA:556030
HP:0002615	Hypotension	538	ATP7A	OMIM:304150
HP:0002615	Hypotension	27235	COQ2	OMIM:146500
HP:0002615	Hypotension	8086	AAAS	OMIM:231550
HP:0002615	Hypotension	1277	COL1A1	ORPHA:287
HP:0002615	Hypotension	1289	COL5A1	ORPHA:287
HP:0002615	Hypotension	1290	COL5A2	ORPHA:287
HP:0002615	Hypotension	2632	GBE1	OMIM:263570
HP:0002615	Hypotension	857	CAV1	OMIM:606721
HP:0002615	Hypotension	3594	IL12RB1	ORPHA:186
HP:0002615	Hypotension	23534	TNPO3	ORPHA:186
HP:0002615	Hypotension	3592	IL12A	ORPHA:186
HP:0002615	Hypotension	6689	SPIB	ORPHA:186
HP:0002615	Hypotension	5450	POU2AF1	ORPHA:186
HP:0002615	Hypotension	9966	TNFSF15	ORPHA:186
HP:0002615	Hypotension	79258	MMEL1	ORPHA:186
HP:0002615	Hypotension	3663	IRF5	ORPHA:186
HP:0002615	Hypotension	3074	HEXB	OMIM:268800
HP:0002615	Hypotension	51142	CHCHD2	OMIM:616710
HP:0002615	Hypotension	80208	SPG11	ORPHA:2822
HP:0002615	Hypotension	4001	LMNB1	ORPHA:99027
HP:0002615	Hypotension	171023	ASXL1	ORPHA:98850
HP:0002615	Hypotension	171023	ASXL1	ORPHA:98849
HP:0002615	Hypotension	54790	TET2	ORPHA:98850
HP:0002615	Hypotension	54790	TET2	ORPHA:98849
HP:0002615	Hypotension	867	CBL	ORPHA:98850
HP:0002615	Hypotension	861	RUNX1	ORPHA:98850
HP:0002615	Hypotension	6427	SRSF2	ORPHA:98850
HP:0002615	Hypotension	6427	SRSF2	ORPHA:98849
HP:0002615	Hypotension	3155	HMGCL	ORPHA:20
HP:0002615	Hypotension	6492	SIM1	ORPHA:369873
HP:0002615	Hypotension	4791	NFKB2	ORPHA:293978
HP:0002615	Hypotension	7428	VHL	OMIM:263400
HP:0002615	Hypotension	51422	PRKAG2	OMIM:261740
HP:0002615	Hypotension	3815	KIT	ORPHA:98849
HP:0002615	Hypotension	3815	KIT	ORPHA:79455
HP:0002615	Hypotension	2767	GNA11	ORPHA:428
HP:0002615	Hypotension	846	CASR	ORPHA:428
HP:0002615	Hypotension	6261	RYR1	ORPHA:466650
HP:0002615	Hypotension	6261	RYR1	OMIM:145600
HP:0002615	Hypotension	183	AGT	OMIM:267430
HP:0002615	Hypotension	5972	REN	OMIM:267430
HP:0002615	Hypotension	185	AGTR1	OMIM:267430
HP:0002615	Hypotension	1636	ACE	OMIM:267430
HP:0002615	Hypotension	1639	DCTN1	ORPHA:178509
HP:0002615	Hypotension	4221	MEN1	ORPHA:2965
HP:0002615	Hypotension	64072	CDH23	ORPHA:2965
HP:0002615	Hypotension	64072	CDH23	ORPHA:91347
HP:0002615	Hypotension	9049	AIP	ORPHA:2965
HP:0002615	Hypotension	1644	DDC	OMIM:608643
HP:0002615	Hypotension	710	SERPING1	ORPHA:100050
HP:0002615	Hypotension	3284	HSD3B2	ORPHA:90791
HP:0002615	Hypotension	7139	TNNT2	OMIM:612422
HP:0002615	Hypotension	2332	FMR1	ORPHA:93256
HP:0002615	Hypotension	1583	CYP11A1	ORPHA:289548
HP:0002615	Hypotension	1583	CYP11A1	ORPHA:168558
HP:0002615	Hypotension	5144	PDE4D	ORPHA:439822
HP:0002615	Hypotension	4582	MUC1	OMIM:174000
HP:0002615	Hypotension	788	SLC25A20	ORPHA:159
HP:0002615	Hypotension	788	SLC25A20	OMIM:212138
HP:0002615	Hypotension	213	ALB	OMIM:616000
HP:0002615	Hypotension	1188	CLCNKB	OMIM:607364
HP:0002615	Hypotension	5626	PROP1	ORPHA:95494
HP:0002615	Hypotension	5626	PROP1	ORPHA:90695
HP:0002615	Hypotension	2736	GLI2	ORPHA:95494
HP:0002615	Hypotension	89884	LHX4	ORPHA:95494
HP:0002615	Hypotension	3170	FOXA2	ORPHA:95494
HP:0002615	Hypotension	5449	POU1F1	ORPHA:95494
HP:0002615	Hypotension	8820	HESX1	ORPHA:95494
HP:0002615	Hypotension	5015	OTX2	ORPHA:95494
HP:0002615	Hypotension	6288	SAA1	ORPHA:85445
HP:0002615	Hypotension	4306	NR3C2	OMIM:177735
HP:0002615	Hypotension	3075	CFH	ORPHA:244242
HP:0002615	Hypotension	3426	CFI	ORPHA:244242
HP:0002615	Hypotension	4179	CD46	ORPHA:244242
HP:0002615	Hypotension	101101692	HELLPAR	ORPHA:244242
HP:0002615	Hypotension	866	SERPINA6	OMIM:611489
HP:0002615	Hypotension	3662	IRF4	ORPHA:3452
HP:0002615	Hypotension	38	ACAT1	ORPHA:134
HP:0002615	Hypotension	6337	SCNN1A	OMIM:264350
HP:0002615	Hypotension	9095	TBX19	ORPHA:199296
HP:0002615	Hypotension	6338	SCNN1B	OMIM:620125
HP:0002615	Hypotension	56246	MRAP	ORPHA:361
HP:0002615	Hypotension	6770	STAR	ORPHA:361
HP:0002615	Hypotension	4158	MC2R	ORPHA:361
HP:0002615	Hypotension	23530	NNT	ORPHA:361
HP:0002615	Hypotension	10587	TXNRD2	ORPHA:361
HP:0002615	Hypotension	1616	DAXX	ORPHA:100075
HP:0002615	Hypotension	546	ATRX	ORPHA:100075
HP:0002615	Hypotension	6559	SLC12A3	OMIM:263800
HP:0002615	Hypotension	6440	SFTPC	ORPHA:70587
HP:0002615	Hypotension	21	ABCA3	ORPHA:70587
HP:0002615	Hypotension	6439	SFTPB	ORPHA:70587
HP:0002615	Hypotension	8942	KYNU	ORPHA:79155
HP:0002615	Hypotension	6658	SOX3	ORPHA:90695
HP:0002615	Hypotension	6557	SLC12A1	OMIM:601678
HP:0002615	Hypotension	3758	KCNJ1	OMIM:241200
HP:0002615	Hypotension	4914	NTRK1	ORPHA:642
HP:0002615	Hypotension	410	ARSA	ORPHA:309271
HP:0002615	Hypotension	5660	PSAP	ORPHA:309271
HP:0002615	Hypotension	2934	GSN	ORPHA:85448
HP:0002615	Hypotension	3953	LEPR	ORPHA:179494
HP:0002615	Hypotension	2629	GBA1	ORPHA:411602
HP:0002615	Hypotension	23317	DNAJC13	ORPHA:411602
HP:0002615	Hypotension	1981	EIF4G1	ORPHA:411602
HP:0002615	Hypotension	55737	VPS35	ORPHA:411602
HP:0002615	Hypotension	120892	LRRK2	ORPHA:411602
HP:0002615	Hypotension	26058	GIGYF2	ORPHA:411602
HP:0002615	Hypotension	3952	LEP	ORPHA:66628
HP:0002615	Hypotension	7276	TTR	OMIM:105210
HP:0006702	Coronary artery dissection	4010	LMX1B	ORPHA:2614
HP:0006702	Coronary artery dissection	5592	PRKG1	OMIM:615436
HP:0006703	Aplasia/Hypoplasia of the lungs	137814	NKX2-6	ORPHA:3384
HP:0006703	Aplasia/Hypoplasia of the lungs	23129	PLXND1	ORPHA:3384
HP:0006703	Aplasia/Hypoplasia of the lungs	341640	FREM2	ORPHA:2052
HP:0006703	Aplasia/Hypoplasia of the lungs	80144	FRAS1	ORPHA:2052
HP:0006703	Aplasia/Hypoplasia of the lungs	80144	FRAS1	OMIM:219000
HP:0006703	Aplasia/Hypoplasia of the lungs	23426	GRIP1	ORPHA:2052
HP:0006703	Aplasia/Hypoplasia of the lungs	28981	IFT81	OMIM:617895
HP:0006703	Aplasia/Hypoplasia of the lungs	4750	NEK1	OMIM:263520
HP:0006703	Aplasia/Hypoplasia of the lungs	8425	LTBP4	OMIM:613177
HP:0006703	Aplasia/Hypoplasia of the lungs	23556	PIGN	ORPHA:2059
HP:0006703	Aplasia/Hypoplasia of the lungs	23556	PIGN	OMIM:614080
HP:0006703	Aplasia/Hypoplasia of the lungs	2733	GLE1	ORPHA:1486
HP:0006703	Aplasia/Hypoplasia of the lungs	2733	GLE1	OMIM:253310
HP:0006703	Aplasia/Hypoplasia of the lungs	79848	CSPP1	OMIM:615636
HP:0006703	Aplasia/Hypoplasia of the lungs	5396	PRRX1	OMIM:202650
HP:0006703	Aplasia/Hypoplasia of the lungs	8195	MKKS	OMIM:236700
HP:0006703	Aplasia/Hypoplasia of the lungs	8854	ALDH1A2	OMIM:620025
HP:0006703	Aplasia/Hypoplasia of the lungs	10992	SF3B2	OMIM:164210
HP:0006703	Aplasia/Hypoplasia of the lungs	64220	STRA6	OMIM:601186
HP:0006703	Aplasia/Hypoplasia of the lungs	64220	STRA6	ORPHA:2470
HP:0006703	Aplasia/Hypoplasia of the lungs	2629	GBA1	OMIM:608013
HP:0006703	Aplasia/Hypoplasia of the lungs	81839	VANGL1	ORPHA:3027
HP:0006703	Aplasia/Hypoplasia of the lungs	80199	FUZ	ORPHA:3027
HP:0006703	Aplasia/Hypoplasia of the lungs	183	AGT	OMIM:267430
HP:0006703	Aplasia/Hypoplasia of the lungs	5972	REN	OMIM:267430
HP:0006703	Aplasia/Hypoplasia of the lungs	185	AGTR1	OMIM:267430
HP:0006703	Aplasia/Hypoplasia of the lungs	1636	ACE	OMIM:267430
HP:0006703	Aplasia/Hypoplasia of the lungs	57539	WDR35	ORPHA:93271
HP:0006703	Aplasia/Hypoplasia of the lungs	57539	WDR35	OMIM:614091
HP:0006703	Aplasia/Hypoplasia of the lungs	91754	NEK9	OMIM:617022
HP:0006703	Aplasia/Hypoplasia of the lungs	58	ACTA1	ORPHA:171430
HP:0006703	Aplasia/Hypoplasia of the lungs	4703	NEB	ORPHA:171430
HP:0006703	Aplasia/Hypoplasia of the lungs	131377	KLHL40	ORPHA:171430
HP:0006703	Aplasia/Hypoplasia of the lungs	10324	KLHL41	ORPHA:171430
HP:0006703	Aplasia/Hypoplasia of the lungs	56203	LMOD3	ORPHA:171430
HP:0006703	Aplasia/Hypoplasia of the lungs	10229	COQ7	OMIM:616733
HP:0006703	Aplasia/Hypoplasia of the lungs	55784	MCTP2	ORPHA:1596
HP:0006703	Aplasia/Hypoplasia of the lungs	5915	RARB	OMIM:615524
HP:0006703	Aplasia/Hypoplasia of the lungs	5915	RARB	ORPHA:2470
HP:0006703	Aplasia/Hypoplasia of the lungs	1717	DHCR7	ORPHA:818
HP:0006703	Aplasia/Hypoplasia of the lungs	1717	DHCR7	OMIM:270400
HP:0006703	Aplasia/Hypoplasia of the lungs	5189	PEX1	OMIM:214100
HP:0006703	Aplasia/Hypoplasia of the lungs	2187	FANCB	ORPHA:3412
HP:0006703	Aplasia/Hypoplasia of the lungs	2187	FANCB	OMIM:314390
HP:0006703	Aplasia/Hypoplasia of the lungs	56975	FAM20C	OMIM:259775
HP:0006703	Aplasia/Hypoplasia of the lungs	1146	CHRNG	OMIM:265000
HP:0006703	Aplasia/Hypoplasia of the lungs	1146	CHRNG	ORPHA:2990
HP:0006703	Aplasia/Hypoplasia of the lungs	1146	CHRNG	OMIM:253290
HP:0006703	Aplasia/Hypoplasia of the lungs	51132	RLIM	OMIM:300978
HP:0006703	Aplasia/Hypoplasia of the lungs	8260	NAA10	OMIM:300855
HP:0006703	Aplasia/Hypoplasia of the lungs	8260	NAA10	OMIM:309800
HP:0006703	Aplasia/Hypoplasia of the lungs	50814	NSDHL	OMIM:308050
HP:0006703	Aplasia/Hypoplasia of the lungs	23522	KAT6B	OMIM:606170
HP:0006703	Aplasia/Hypoplasia of the lungs	23522	KAT6B	ORPHA:85201
HP:0006703	Aplasia/Hypoplasia of the lungs	6261	RYR1	OMIM:255320
HP:0006703	Aplasia/Hypoplasia of the lungs	51008	ASCC1	OMIM:616867
HP:0006703	Aplasia/Hypoplasia of the lungs	57211	ADGRG6	OMIM:616503
HP:0006703	Aplasia/Hypoplasia of the lungs	9325	TRIP4	OMIM:616866
HP:0006703	Aplasia/Hypoplasia of the lungs	284086	NEK8	OMIM:615415
HP:0006703	Aplasia/Hypoplasia of the lungs	3339	HSPG2	ORPHA:1865
HP:0006703	Aplasia/Hypoplasia of the lungs	3339	HSPG2	OMIM:224410
HP:0006703	Aplasia/Hypoplasia of the lungs	23414	ZFPM2	ORPHA:2140
HP:0006703	Aplasia/Hypoplasia of the lungs	9361	LONP1	ORPHA:2140
HP:0006703	Aplasia/Hypoplasia of the lungs	2627	GATA6	ORPHA:2140
HP:0006703	Aplasia/Hypoplasia of the lungs	5745	PTH1R	ORPHA:50945
HP:0006703	Aplasia/Hypoplasia of the lungs	3977	LIFR	OMIM:601559
HP:0006703	Aplasia/Hypoplasia of the lungs	79796	ALG9	OMIM:263210
HP:0006703	Aplasia/Hypoplasia of the lungs	79796	ALG9	ORPHA:79328
HP:0006703	Aplasia/Hypoplasia of the lungs	23384	SPECC1L	OMIM:145420
HP:0006703	Aplasia/Hypoplasia of the lungs	27130	INVS	OMIM:602088
HP:0006703	Aplasia/Hypoplasia of the lungs	26040	SETBP1	ORPHA:798
HP:0006703	Aplasia/Hypoplasia of the lungs	29980	DONSON	OMIM:251230
HP:0006703	Aplasia/Hypoplasia of the lungs	26227	PHGDH	OMIM:256520
HP:0006703	Aplasia/Hypoplasia of the lungs	2316	FLNA	ORPHA:90652
HP:0006703	Aplasia/Hypoplasia of the lungs	4927	NUP88	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	7846	TUBA1A	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	4654	MYOD1	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	4654	MYOD1	OMIM:618975
HP:0006703	Aplasia/Hypoplasia of the lungs	4593	MUSK	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	4593	MUSK	OMIM:208150
HP:0006703	Aplasia/Hypoplasia of the lungs	5913	RAPSN	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	6572	SLC18A3	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	285489	DOK7	ORPHA:994
HP:0006703	Aplasia/Hypoplasia of the lungs	1798	DPAGT1	ORPHA:86309
HP:0006703	Aplasia/Hypoplasia of the lungs	1280	COL2A1	OMIM:151210
HP:0006703	Aplasia/Hypoplasia of the lungs	1280	COL2A1	ORPHA:85166
HP:0006703	Aplasia/Hypoplasia of the lungs	1280	COL2A1	ORPHA:93296
HP:0006703	Aplasia/Hypoplasia of the lungs	54880	BCOR	OMIM:309800
HP:0006703	Aplasia/Hypoplasia of the lungs	4629	MYH11	OMIM:619351
HP:0006703	Aplasia/Hypoplasia of the lungs	5314	PKHD1	OMIM:263200
HP:0006703	Aplasia/Hypoplasia of the lungs	5314	PKHD1	ORPHA:731
HP:0006703	Aplasia/Hypoplasia of the lungs	57545	CC2D2A	OMIM:612284
HP:0006703	Aplasia/Hypoplasia of the lungs	29957	SLC25A24	OMIM:612289
HP:0006703	Aplasia/Hypoplasia of the lungs	6608	SMO	OMIM:241800
HP:0006703	Aplasia/Hypoplasia of the lungs	79770	TXNDC15	OMIM:619879
HP:0006703	Aplasia/Hypoplasia of the lungs	5979	RET	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	8516	ITGA8	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	8516	ITGA8	OMIM:191830
HP:0006703	Aplasia/Hypoplasia of the lungs	26281	FGF20	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	26281	FGF20	OMIM:615721
HP:0006703	Aplasia/Hypoplasia of the lungs	2674	GFRA1	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	2674	GFRA1	OMIM:619887
HP:0006703	Aplasia/Hypoplasia of the lungs	7484	WNT9B	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	80000	GREB1L	ORPHA:1848
HP:0006703	Aplasia/Hypoplasia of the lungs	55165	CEP55	OMIM:236500
HP:0006703	Aplasia/Hypoplasia of the lungs	7547	ZIC3	OMIM:314390
HP:0006703	Aplasia/Hypoplasia of the lungs	4716	NDUFB10	OMIM:619003
HP:0006703	Aplasia/Hypoplasia of the lungs	8318	CDC45	OMIM:617063
HP:0006703	Aplasia/Hypoplasia of the lungs	5297	PI4KA	OMIM:616531
HP:0006703	Aplasia/Hypoplasia of the lungs	5297	PI4KA	OMIM:619708
HP:0006703	Aplasia/Hypoplasia of the lungs	27031	NPHP3	OMIM:208540
HP:0006703	Aplasia/Hypoplasia of the lungs	27031	NPHP3	ORPHA:3032
HP:0006703	Aplasia/Hypoplasia of the lungs	202018	TAPT1	OMIM:616897
HP:0006703	Aplasia/Hypoplasia of the lungs	163175	LGI4	OMIM:617468
HP:0006703	Aplasia/Hypoplasia of the lungs	9772	TMEM94	OMIM:618316
HP:0006703	Aplasia/Hypoplasia of the lungs	388015	RTL1	ORPHA:96334
HP:0006703	Aplasia/Hypoplasia of the lungs	8788	DLK1	ORPHA:96334
HP:0006703	Aplasia/Hypoplasia of the lungs	55384	MEG3	ORPHA:96334
HP:0006703	Aplasia/Hypoplasia of the lungs	199221	DZIP1L	ORPHA:731
HP:0006703	Aplasia/Hypoplasia of the lungs	8241	RBM10	ORPHA:2886
HP:0006703	Aplasia/Hypoplasia of the lungs	745	MYRF	OMIM:618280
HP:0006703	Aplasia/Hypoplasia of the lungs	3930	LBR	OMIM:215140
HP:0006703	Aplasia/Hypoplasia of the lungs	63895	PIEZO2	OMIM:248700
HP:0006703	Aplasia/Hypoplasia of the lungs	342035	GLDN	OMIM:617194
HP:0006703	Aplasia/Hypoplasia of the lungs	9786	KIAA0586	OMIM:616546
HP:0006703	Aplasia/Hypoplasia of the lungs	4000	LMNA	ORPHA:1662
HP:0006703	Aplasia/Hypoplasia of the lungs	10269	ZMPSTE24	ORPHA:1662
HP:0006703	Aplasia/Hypoplasia of the lungs	10269	ZMPSTE24	OMIM:275210
HP:0006703	Aplasia/Hypoplasia of the lungs	4621	MYH3	ORPHA:2990
HP:0006703	Aplasia/Hypoplasia of the lungs	10195	ALG3	ORPHA:79321
HP:0006703	Aplasia/Hypoplasia of the lungs	54361	WNT4	OMIM:611812
HP:0006703	Aplasia/Hypoplasia of the lungs	54361	WNT4	ORPHA:139466
HP:0006703	Aplasia/Hypoplasia of the lungs	26123	TCTN3	ORPHA:2753
HP:0006703	Aplasia/Hypoplasia of the lungs	57505	AARS2	OMIM:614096
HP:0006703	Aplasia/Hypoplasia of the lungs	54903	MKS1	OMIM:249000
HP:0006703	Aplasia/Hypoplasia of the lungs	1496	CTNNA2	OMIM:618174
HP:0006703	Aplasia/Hypoplasia of the lungs	27152	INTU	OMIM:617925
HP:0006703	Aplasia/Hypoplasia of the lungs	1144	CHRND	OMIM:253290
HP:0006703	Aplasia/Hypoplasia of the lungs	1134	CHRNA1	OMIM:253290
HP:0006703	Aplasia/Hypoplasia of the lungs	498	ATP5F1A	OMIM:615228
HP:0006703	Aplasia/Hypoplasia of the lungs	2108	ETFA	OMIM:231680
HP:0006703	Aplasia/Hypoplasia of the lungs	2109	ETFB	OMIM:231680
HP:0006703	Aplasia/Hypoplasia of the lungs	2110	ETFDH	OMIM:231680
HP:0006703	Aplasia/Hypoplasia of the lungs	168667	BMPER	OMIM:608022
HP:0006703	Aplasia/Hypoplasia of the lungs	55112	DYNC2I1	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	26160	IFT172	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	153241	CEP120	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	57560	IFT80	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	51626	DYNC2LI1	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	51626	DYNC2LI1	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	79659	DYNC2H1	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	9742	IFT140	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	57728	WDR19	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	89891	DYNC2I2	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	79809	TTC21B	ORPHA:474
HP:0006703	Aplasia/Hypoplasia of the lungs	27238	GPKOW	ORPHA:2570
HP:0006703	Aplasia/Hypoplasia of the lungs	64840	PORCN	ORPHA:2092
HP:0006703	Aplasia/Hypoplasia of the lungs	59341	TRPV4	ORPHA:2635
HP:0006703	Aplasia/Hypoplasia of the lungs	2261	FGFR3	ORPHA:1860
HP:0006703	Aplasia/Hypoplasia of the lungs	2261	FGFR3	ORPHA:93274
HP:0006703	Aplasia/Hypoplasia of the lungs	2317	FLNB	ORPHA:1263
HP:0006703	Aplasia/Hypoplasia of the lungs	1836	SLC26A2	ORPHA:93298
HP:0006703	Aplasia/Hypoplasia of the lungs	9321	TRIP11	ORPHA:93299
HP:0006703	Aplasia/Hypoplasia of the lungs	1131	CHRM3	ORPHA:2970
HP:0006703	Aplasia/Hypoplasia of the lungs	7473	WNT3	ORPHA:3301
HP:0006703	Aplasia/Hypoplasia of the lungs	340419	RSPO2	ORPHA:3301
HP:0006703	Aplasia/Hypoplasia of the lungs	3239	HOXD13	ORPHA:887
HP:0006703	Aplasia/Hypoplasia of the lungs	5566	PRKACA	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	5567	PRKACB	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	2735	GLI1	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	2121	EVC	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	132884	EVC2	ORPHA:289
HP:0006703	Aplasia/Hypoplasia of the lungs	7490	WT1	ORPHA:3097
HP:0006703	Aplasia/Hypoplasia of the lungs	10815	CPLX1	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	54872	PIGG	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	7469	NELFA	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	1487	CTBP1	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	3954	LETM1	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	7468	NSD2	ORPHA:280
HP:0006703	Aplasia/Hypoplasia of the lungs	126792	B3GALT6	ORPHA:2725
HP:0006703	Aplasia/Hypoplasia of the lungs	6651	SON	OMIM:617140
HP:0006703	Aplasia/Hypoplasia of the lungs	6651	SON	ORPHA:500150
HP:0006704	Abnormal coronary artery morphology	6609	SMPD1	ORPHA:77293
HP:0006704	Abnormal coronary artery morphology	63036	CELA2A	OMIM:618620
HP:0006704	Abnormal coronary artery morphology	336	APOA2	OMIM:143890
HP:0006704	Abnormal coronary artery morphology	2053	EPHX2	OMIM:143890
HP:0006704	Abnormal coronary artery morphology	10842	PPP1R17	OMIM:143890
HP:0006704	Abnormal coronary artery morphology	2690	GHR	OMIM:143890
HP:0006704	Abnormal coronary artery morphology	5468	PPARG	ORPHA:79083
HP:0006704	Abnormal coronary artery morphology	4629	MYH11	OMIM:132900
HP:0006704	Abnormal coronary artery morphology	4629	MYH11	ORPHA:229
HP:0006704	Abnormal coronary artery morphology	4629	MYH11	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	79184	BRCC3	ORPHA:280679
HP:0006704	Abnormal coronary artery morphology	1581	CYP7A1	ORPHA:209902
HP:0006704	Abnormal coronary artery morphology	2099	ESR1	ORPHA:785
HP:0006704	Abnormal coronary artery morphology	64131	XYLT1	OMIM:264800
HP:0006704	Abnormal coronary artery morphology	64132	XYLT2	OMIM:264800
HP:0006704	Abnormal coronary artery morphology	4015	LOX	OMIM:617168
HP:0006704	Abnormal coronary artery morphology	4015	LOX	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	57592	ZNF687	OMIM:616833
HP:0006704	Abnormal coronary artery morphology	7046	TGFBR1	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	7048	TGFBR2	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	4087	SMAD2	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	7043	TGFB3	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	4088	SMAD3	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	7042	TGFB2	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	4089	SMAD4	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	2200	FBN1	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	2301	FOXE3	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	4144	MAT2A	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	23493	HEY2	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	8076	MFAP5	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	4638	MYLK	ORPHA:91387
HP:0006704	Abnormal coronary artery morphology	3081	HGD	ORPHA:56
HP:0006704	Abnormal coronary artery morphology	3081	HGD	OMIM:203500
HP:0006704	Abnormal coronary artery morphology	4907	NT5E	OMIM:211800
HP:0006704	Abnormal coronary artery morphology	4907	NT5E	ORPHA:289601
HP:0006704	Abnormal coronary artery morphology	368	ABCC6	OMIM:614473
HP:0006704	Abnormal coronary artery morphology	368	ABCC6	ORPHA:51608
HP:0006704	Abnormal coronary artery morphology	5167	ENPP1	ORPHA:51608
HP:0006704	Abnormal coronary artery morphology	5167	ENPP1	OMIM:208000
HP:0006704	Abnormal coronary artery morphology	3053	SERPIND1	OMIM:612356
HP:0006704	Abnormal coronary artery morphology	55249	YY1AP1	OMIM:602531
HP:0006704	Abnormal coronary artery morphology	9149	DYRK1B	OMIM:615812
HP:0006704	Abnormal coronary artery morphology	57104	PNPLA2	ORPHA:565612
HP:0006704	Abnormal coronary artery morphology	51085	MLXIPL	OMIM:194050
HP:0006704	Abnormal coronary artery morphology	2006	ELN	OMIM:194050
HP:0006704	Abnormal coronary artery morphology	19	ABCA1	ORPHA:31150
HP:0006704	Abnormal coronary artery morphology	3990	LIPC	ORPHA:140905
HP:0006704	Abnormal coronary artery morphology	335	APOA1	OMIM:618463
HP:0006704	Abnormal coronary artery morphology	335	APOA1	ORPHA:425
HP:0006704	Abnormal coronary artery morphology	1593	CYP27A1	ORPHA:909
HP:0006704	Abnormal coronary artery morphology	1161	ERCC8	ORPHA:90324
HP:0006704	Abnormal coronary artery morphology	2074	ERCC6	ORPHA:90324
HP:0006704	Abnormal coronary artery morphology	84984	CEP19	OMIM:615703
HP:0006704	Abnormal coronary artery morphology	59	ACTA2	OMIM:611788
HP:0006704	Abnormal coronary artery morphology	4000	LMNA	OMIM:176670
HP:0006704	Abnormal coronary artery morphology	338328	GPIHBP1	OMIM:615947
HP:0006704	Abnormal coronary artery morphology	4205	MEF2A	OMIM:608320
HP:0006704	Abnormal coronary artery morphology	348	APOE	ORPHA:412
HP:0006704	Abnormal coronary artery morphology	4040	LRP6	OMIM:610947
HP:0006704	Abnormal coronary artery morphology	2720	GLB1	OMIM:253010
HP:0006704	Abnormal coronary artery morphology	4010	LMX1B	ORPHA:2614
HP:0006704	Abnormal coronary artery morphology	5592	PRKG1	OMIM:615436
HP:0006704	Abnormal coronary artery morphology	137814	NKX2-6	ORPHA:3384
HP:0006704	Abnormal coronary artery morphology	23129	PLXND1	ORPHA:3384
HP:0006704	Abnormal coronary artery morphology	8216	LZTR1	OMIM:605275
HP:0006704	Abnormal coronary artery morphology	55191	NADSYN1	OMIM:618845
HP:0006704	Abnormal coronary artery morphology	100128908	CIROP	OMIM:619702
HP:0006704	Abnormal coronary artery morphology	8496	PPFIBP1	OMIM:620024
HP:0006704	Abnormal coronary artery morphology	7086	TKT	ORPHA:488618
HP:0006704	Abnormal coronary artery morphology	51434	ANAPC7	OMIM:619699
HP:0006704	Abnormal coronary artery morphology	3949	LDLR	ORPHA:391665
HP:0006704	Abnormal coronary artery morphology	255738	PCSK9	ORPHA:391665
HP:0006704	Abnormal coronary artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0006704	Abnormal coronary artery morphology	338	APOB	ORPHA:391665
HP:0006704	Abnormal coronary artery morphology	64240	ABCG5	ORPHA:391665
HP:0006704	Abnormal coronary artery morphology	64241	ABCG8	ORPHA:391665
HP:0006706	Cystic liver disease	51726	DNAJB11	OMIM:618061
HP:0006706	Cystic liver disease	51726	DNAJB11	ORPHA:730
HP:0006706	Cystic liver disease	23193	GANAB	ORPHA:730
HP:0006706	Cystic liver disease	23193	GANAB	OMIM:600666
HP:0006706	Cystic liver disease	5310	PKD1	ORPHA:730
HP:0006706	Cystic liver disease	5310	PKD1	OMIM:173900
HP:0006706	Cystic liver disease	5311	PKD2	ORPHA:730
HP:0006706	Cystic liver disease	5311	PKD2	OMIM:613095
HP:0006706	Cystic liver disease	29880	ALG5	ORPHA:730
HP:0006706	Cystic liver disease	9742	IFT140	ORPHA:730
HP:0006706	Cystic liver disease	79796	ALG9	ORPHA:730
HP:0006706	Cystic liver disease	79796	ALG9	ORPHA:79328
HP:0006706	Cystic liver disease	80114	BICC1	ORPHA:730
HP:0006706	Cystic liver disease	5314	PKHD1	OMIM:263200
HP:0006706	Cystic liver disease	4041	LRP5	OMIM:617875
HP:0006706	Cystic liver disease	79053	ALG8	OMIM:617874
HP:0006706	Cystic liver disease	57728	WDR19	OMIM:616307
HP:0006706	Cystic liver disease	57728	WDR19	OMIM:614377
HP:0006706	Cystic liver disease	3458	IFNG	ORPHA:805
HP:0006706	Cystic liver disease	7248	TSC1	ORPHA:805
HP:0006706	Cystic liver disease	7249	TSC2	ORPHA:805
HP:0006706	Cystic liver disease	284086	NEK8	OMIM:615415
HP:0006706	Cystic liver disease	55764	IFT122	OMIM:218330
HP:0006706	Cystic liver disease	79809	TTC21B	OMIM:613819
HP:0006706	Cystic liver disease	11231	SEC63	OMIM:617004
HP:0006706	Cystic liver disease	27031	NPHP3	OMIM:208540
HP:0006706	Cystic liver disease	2137	EXTL3	OMIM:617425
HP:0006706	Cystic liver disease	8481	OFD1	OMIM:311200
HP:0006706	Cystic liver disease	3716	JAK1	OMIM:618999
HP:0006706	Cystic liver disease	5589	PRKCSH	ORPHA:2924
HP:0006706	Cystic liver disease	5589	PRKCSH	OMIM:174050
HP:0006706	Cystic liver disease	84314	TMEM107	ORPHA:564
HP:0006706	Cystic liver disease	26123	TCTN3	ORPHA:564
HP:0006706	Cystic liver disease	79867	TCTN2	ORPHA:564
HP:0006706	Cystic liver disease	80776	B9D2	ORPHA:564
HP:0006706	Cystic liver disease	79600	TCTN1	ORPHA:564
HP:0006706	Cystic liver disease	57096	RPGRIP1	ORPHA:564
HP:0006706	Cystic liver disease	79848	CSPP1	ORPHA:564
HP:0006706	Cystic liver disease	80184	CEP290	ORPHA:564
HP:0006706	Cystic liver disease	51259	TMEM216	ORPHA:564
HP:0006706	Cystic liver disease	57545	CC2D2A	ORPHA:564
HP:0006706	Cystic liver disease	57545	CC2D2A	OMIM:612284
HP:0006706	Cystic liver disease	79583	TMEM231	ORPHA:564
HP:0006706	Cystic liver disease	91147	TMEM67	ORPHA:564
HP:0006706	Cystic liver disease	79770	TXNDC15	ORPHA:564
HP:0006706	Cystic liver disease	27077	B9D1	ORPHA:564
HP:0006706	Cystic liver disease	23322	RPGRIP1L	ORPHA:564
HP:0006706	Cystic liver disease	54903	MKS1	ORPHA:564
HP:0006706	Cystic liver disease	65062	TMEM237	ORPHA:564
HP:0006707	Abnormality of the hepatic vasculature	171023	ASXL1	ORPHA:98850
HP:0006707	Abnormality of the hepatic vasculature	867	CBL	ORPHA:98850
HP:0006707	Abnormality of the hepatic vasculature	861	RUNX1	ORPHA:98850
HP:0006707	Abnormality of the hepatic vasculature	6427	SRSF2	ORPHA:98850
HP:0006707	Abnormality of the hepatic vasculature	7840	ALMS1	ORPHA:64
HP:0006707	Abnormality of the hepatic vasculature	5314	PKHD1	OMIM:263200
HP:0006707	Abnormality of the hepatic vasculature	5314	PKHD1	ORPHA:53035
HP:0006707	Abnormality of the hepatic vasculature	5314	PKHD1	ORPHA:731
HP:0006707	Abnormality of the hepatic vasculature	55532	SLC30A10	ORPHA:309854
HP:0006707	Abnormality of the hepatic vasculature	72	ACTG2	OMIM:619431
HP:0006707	Abnormality of the hepatic vasculature	2632	GBE1	OMIM:232500
HP:0006707	Abnormality of the hepatic vasculature	9414	TJP2	OMIM:615878
HP:0006707	Abnormality of the hepatic vasculature	811	CALR	ORPHA:824
HP:0006707	Abnormality of the hepatic vasculature	811	CALR	ORPHA:131
HP:0006707	Abnormality of the hepatic vasculature	10056	FARSB	OMIM:613658
HP:0006707	Abnormality of the hepatic vasculature	91147	TMEM67	OMIM:216360
HP:0006707	Abnormality of the hepatic vasculature	91147	TMEM67	ORPHA:84081
HP:0006707	Abnormality of the hepatic vasculature	91147	TMEM67	ORPHA:1454
HP:0006707	Abnormality of the hepatic vasculature	197131	UBR1	OMIM:243800
HP:0006707	Abnormality of the hepatic vasculature	3594	IL12RB1	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	23534	TNPO3	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	3592	IL12A	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	6689	SPIB	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	5450	POU2AF1	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	9966	TNFSF15	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	79258	MMEL1	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	3663	IRF5	ORPHA:186
HP:0006707	Abnormality of the hepatic vasculature	100147744	RNU7-1	OMIM:619487
HP:0006707	Abnormality of the hepatic vasculature	79991	STN1	OMIM:617341
HP:0006707	Abnormality of the hepatic vasculature	27031	NPHP3	OMIM:208540
HP:0006707	Abnormality of the hepatic vasculature	27031	NPHP3	OMIM:267010
HP:0006707	Abnormality of the hepatic vasculature	83737	ITCH	OMIM:613385
HP:0006707	Abnormality of the hepatic vasculature	83737	ITCH	ORPHA:228426
HP:0006707	Abnormality of the hepatic vasculature	1716	DGUOK	OMIM:617068
HP:0006707	Abnormality of the hepatic vasculature	1716	DGUOK	OMIM:251880
HP:0006707	Abnormality of the hepatic vasculature	50674	NEUROG3	ORPHA:83620
HP:0006707	Abnormality of the hepatic vasculature	51816	ADA2	OMIM:615688
HP:0006707	Abnormality of the hepatic vasculature	84936	ZFYVE19	OMIM:619849
HP:0006707	Abnormality of the hepatic vasculature	169792	GLIS3	OMIM:610199
HP:0006707	Abnormality of the hepatic vasculature	51473	DCDC2	ORPHA:84081
HP:0006707	Abnormality of the hepatic vasculature	51473	DCDC2	OMIM:617394
HP:0006707	Abnormality of the hepatic vasculature	23729	SHPK	ORPHA:440713
HP:0006707	Abnormality of the hepatic vasculature	9076	CLDN1	ORPHA:59303
HP:0006707	Abnormality of the hepatic vasculature	9076	CLDN1	OMIM:607626
HP:0006707	Abnormality of the hepatic vasculature	6663	SOX10	OMIM:609136
HP:0006707	Abnormality of the hepatic vasculature	51085	MLXIPL	OMIM:194050
HP:0006707	Abnormality of the hepatic vasculature	2006	ELN	OMIM:194050
HP:0006707	Abnormality of the hepatic vasculature	3516	RBPJ	ORPHA:974
HP:0006707	Abnormality of the hepatic vasculature	57514	ARHGAP31	ORPHA:974
HP:0006707	Abnormality of the hepatic vasculature	57572	DOCK6	ORPHA:974
HP:0006707	Abnormality of the hepatic vasculature	285203	EOGT	ORPHA:974
HP:0006707	Abnormality of the hepatic vasculature	54567	DLL4	ORPHA:974
HP:0006707	Abnormality of the hepatic vasculature	54567	DLL4	OMIM:616589
HP:0006707	Abnormality of the hepatic vasculature	199221	DZIP1L	ORPHA:731
HP:0006707	Abnormality of the hepatic vasculature	9968	MED12	OMIM:301068
HP:0006707	Abnormality of the hepatic vasculature	2658	GDF2	ORPHA:774
HP:0006707	Abnormality of the hepatic vasculature	2658	GDF2	OMIM:615506
HP:0006707	Abnormality of the hepatic vasculature	94	ACVRL1	ORPHA:774
HP:0006707	Abnormality of the hepatic vasculature	4089	SMAD4	ORPHA:774
HP:0006707	Abnormality of the hepatic vasculature	2022	ENG	ORPHA:774
HP:0006707	Abnormality of the hepatic vasculature	4351	MPI	ORPHA:79319
HP:0006707	Abnormality of the hepatic vasculature	2153	F5	ORPHA:131
HP:0006707	Abnormality of the hepatic vasculature	2859	GPR35	ORPHA:171
HP:0006707	Abnormality of the hepatic vasculature	10507	SEMA4D	ORPHA:171
HP:0006707	Abnormality of the hepatic vasculature	4485	MST1	ORPHA:171
HP:0006707	Abnormality of the hepatic vasculature	6925	TCF4	ORPHA:171
HP:0006707	Abnormality of the hepatic vasculature	79989	IFT56	OMIM:619534
HP:0006707	Abnormality of the hepatic vasculature	3988	LIPA	OMIM:278000
HP:0006707	Abnormality of the hepatic vasculature	654	BMP6	ORPHA:465508
HP:0006707	Abnormality of the hepatic vasculature	3077	HFE	ORPHA:465508
HP:0006707	Abnormality of the hepatic vasculature	5557	PRIM1	OMIM:620005
HP:0006707	Abnormality of the hepatic vasculature	3431	SP110	ORPHA:79124
HP:0006707	Abnormality of the hepatic vasculature	5825	ABCD3	OMIM:616278
HP:0006707	Abnormality of the hepatic vasculature	55340	GIMAP5	OMIM:619463
HP:0006707	Abnormality of the hepatic vasculature	113220	KIF12	OMIM:619662
HP:0006707	Abnormality of the hepatic vasculature	7289	TULP3	OMIM:619902
HP:0006707	Abnormality of the hepatic vasculature	56623	INPP5E	ORPHA:1454
HP:0006707	Abnormality of the hepatic vasculature	23322	RPGRIP1L	ORPHA:1454
HP:0006707	Abnormality of the hepatic vasculature	57545	CC2D2A	ORPHA:1454
HP:0006707	Abnormality of the hepatic vasculature	2783	GNB2	OMIM:619503
HP:0006707	Abnormality of the hepatic vasculature	56244	BTNL2	ORPHA:797
HP:0006707	Abnormality of the hepatic vasculature	3123	HLA-DRB1	ORPHA:797
HP:0006707	Abnormality of the hepatic vasculature	9401	RECQL4	OMIM:218600
HP:0006707	Abnormality of the hepatic vasculature	889	KRIT1	OMIM:116860
HP:0006707	Abnormality of the hepatic vasculature	2321	FLT1	ORPHA:275555
HP:0006707	Abnormality of the hepatic vasculature	219736	STOX1	ORPHA:275555
HP:0006707	Abnormality of the hepatic vasculature	10699	CORIN	ORPHA:275555
HP:0006707	Abnormality of the hepatic vasculature	11277	TREX1	ORPHA:247691
HP:0006707	Abnormality of the hepatic vasculature	4851	NOTCH1	OMIM:616028
HP:0006707	Abnormality of the hepatic vasculature	4352	MPL	ORPHA:729
HP:0006707	Abnormality of the hepatic vasculature	3717	JAK2	ORPHA:729
HP:0006707	Abnormality of the hepatic vasculature	54790	TET2	ORPHA:729
HP:0006707	Abnormality of the hepatic vasculature	4233	MET	ORPHA:33402
HP:0006707	Abnormality of the hepatic vasculature	1499	CTNNB1	ORPHA:33402
HP:0006707	Abnormality of the hepatic vasculature	462	SERPINC1	ORPHA:82
HP:0006707	Abnormality of the hepatic vasculature	6521	SLC4A1	ORPHA:3202
HP:0006707	Abnormality of the hepatic vasculature	9780	PIEZO1	ORPHA:3202
HP:0006707	Abnormality of the hepatic vasculature	3783	KCNN4	ORPHA:3202
HP:0006707	Abnormality of the hepatic vasculature	93183	PIGM	OMIM:610293
HP:0006707	Abnormality of the hepatic vasculature	10112	KIF20A	OMIM:619433
HP:0006710	Aplasia/Hypoplasia of the clavicles	9321	TRIP11	OMIM:200600
HP:0006710	Aplasia/Hypoplasia of the clavicles	11285	B4GALT7	OMIM:130070
HP:0006710	Aplasia/Hypoplasia of the clavicles	4488	MSX2	ORPHA:60015
HP:0006710	Aplasia/Hypoplasia of the clavicles	4488	MSX2	OMIM:168550
HP:0006710	Aplasia/Hypoplasia of the clavicles	60529	ALX4	ORPHA:60015
HP:0006710	Aplasia/Hypoplasia of the clavicles	8260	NAA10	OMIM:309800
HP:0006710	Aplasia/Hypoplasia of the clavicles	54880	BCOR	OMIM:309800
HP:0006710	Aplasia/Hypoplasia of the clavicles	340419	RSPO2	OMIM:618022
HP:0006710	Aplasia/Hypoplasia of the clavicles	50814	NSDHL	OMIM:308050
HP:0006710	Aplasia/Hypoplasia of the clavicles	1108	CHD4	OMIM:617159
HP:0006710	Aplasia/Hypoplasia of the clavicles	64131	XYLT1	OMIM:615777
HP:0006710	Aplasia/Hypoplasia of the clavicles	64131	XYLT1	ORPHA:370930
HP:0006710	Aplasia/Hypoplasia of the clavicles	2263	FGFR2	ORPHA:313855
HP:0006710	Aplasia/Hypoplasia of the clavicles	2263	FGFR2	OMIM:614592
HP:0006710	Aplasia/Hypoplasia of the clavicles	6910	TBX5	OMIM:142900
HP:0006710	Aplasia/Hypoplasia of the clavicles	267010	RNU12	OMIM:603116
HP:0006710	Aplasia/Hypoplasia of the clavicles	6926	TBX3	OMIM:181450
HP:0006710	Aplasia/Hypoplasia of the clavicles	10847	SRCAP	OMIM:136140
HP:0006710	Aplasia/Hypoplasia of the clavicles	10847	SRCAP	ORPHA:2044
HP:0006710	Aplasia/Hypoplasia of the clavicles	633	BGN	OMIM:300106
HP:0006710	Aplasia/Hypoplasia of the clavicles	51626	DYNC2LI1	OMIM:617088
HP:0006710	Aplasia/Hypoplasia of the clavicles	221496	LEMD2	OMIM:619322
HP:0006710	Aplasia/Hypoplasia of the clavicles	91179	SCARF2	OMIM:600920
HP:0006710	Aplasia/Hypoplasia of the clavicles	9578	CDC42BPB	OMIM:619841
HP:0006710	Aplasia/Hypoplasia of the clavicles	3239	HOXD13	OMIM:113300
HP:0006710	Aplasia/Hypoplasia of the clavicles	2316	FLNA	OMIM:309350
HP:0006710	Aplasia/Hypoplasia of the clavicles	2316	FLNA	ORPHA:2484
HP:0006710	Aplasia/Hypoplasia of the clavicles	79633	FAT4	OMIM:615546
HP:0006710	Aplasia/Hypoplasia of the clavicles	7291	TWIST1	OMIM:617746
HP:0006710	Aplasia/Hypoplasia of the clavicles	8642	DCHS1	OMIM:601390
HP:0006710	Aplasia/Hypoplasia of the clavicles	3425	IDUA	OMIM:607014
HP:0006710	Aplasia/Hypoplasia of the clavicles	26224	FBXL3	OMIM:606220
HP:0006710	Aplasia/Hypoplasia of the clavicles	1947	EFNB1	ORPHA:1520
HP:0006710	Aplasia/Hypoplasia of the clavicles	1947	EFNB1	OMIM:304110
HP:0006710	Aplasia/Hypoplasia of the clavicles	7476	WNT7A	OMIM:276820
HP:0006710	Aplasia/Hypoplasia of the clavicles	10269	ZMPSTE24	OMIM:275210
HP:0006710	Aplasia/Hypoplasia of the clavicles	5728	PTEN	ORPHA:79076
HP:0006710	Aplasia/Hypoplasia of the clavicles	657	BMPR1A	ORPHA:79076
HP:0006710	Aplasia/Hypoplasia of the clavicles	64840	PORCN	OMIM:305600
HP:0006710	Aplasia/Hypoplasia of the clavicles	9896	FIG4	OMIM:216340
HP:0006710	Aplasia/Hypoplasia of the clavicles	538	ATP7A	ORPHA:198
HP:0006710	Aplasia/Hypoplasia of the clavicles	860	RUNX2	OMIM:119600
HP:0006710	Aplasia/Hypoplasia of the clavicles	5745	PTH1R	ORPHA:50945
HP:0006710	Aplasia/Hypoplasia of the clavicles	1513	CTSK	OMIM:265800
HP:0006710	Aplasia/Hypoplasia of the clavicles	9786	KIAA0586	OMIM:616546
HP:0006710	Aplasia/Hypoplasia of the clavicles	9791	PTDSS1	ORPHA:2658
HP:0006710	Aplasia/Hypoplasia of the clavicles	100151683	RNU4ATAC	ORPHA:2636
HP:0006710	Aplasia/Hypoplasia of the clavicles	9487	PIGL	ORPHA:3474
HP:0006710	Aplasia/Hypoplasia of the clavicles	57167	SALL4	ORPHA:2307
HP:0006710	Aplasia/Hypoplasia of the clavicles	81620	CDT1	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	5000	ORC4	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	23594	ORC6	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	8318	CDC45	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	990	CDC6	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	4998	ORC1	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	51053	GMNN	ORPHA:2554
HP:0006710	Aplasia/Hypoplasia of the clavicles	865	CBFB	OMIM:620099
HP:0006710	Aplasia/Hypoplasia of the clavicles	4000	LMNA	ORPHA:1662
HP:0006710	Aplasia/Hypoplasia of the clavicles	4000	LMNA	ORPHA:90153
HP:0006710	Aplasia/Hypoplasia of the clavicles	55697	VAC14	ORPHA:3472
HP:0006710	Aplasia/Hypoplasia of the clavicles	10651	MTX2	ORPHA:90153
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4921	DDR2	OMIM:271665
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	65992	DDRGK1	OMIM:602557
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79659	DYNC2H1	OMIM:613091
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79659	DYNC2H1	ORPHA:93271
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1836	SLC26A2	OMIM:600972
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1836	SLC26A2	ORPHA:56304
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	28981	IFT81	OMIM:617895
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	579	NKX3-2	OMIM:613330
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4750	NEK1	OMIM:263520
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55503	TRPV6	OMIM:618188
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	26160	IFT172	OMIM:615630
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79848	CSPP1	OMIM:615636
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79848	CSPP1	ORPHA:397715
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6608	SMO	OMIM:241800
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	59341	TRPV4	OMIM:156530
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55112	DYNC2I1	ORPHA:93271
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55112	DYNC2I1	OMIM:615503
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57560	IFT80	ORPHA:93271
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	89891	DYNC2I2	ORPHA:93271
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	249	ALPL	OMIM:241500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	202018	TAPT1	OMIM:616897
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5331	PLCB3	OMIM:618961
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2121	EVC	OMIM:225500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	132884	EVC2	OMIM:225500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	153241	CEP120	OMIM:616300
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7317	UBA1	ORPHA:1145
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2146	EZH2	OMIM:277590
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9820	CUL7	OMIM:273750
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55764	IFT122	OMIM:218330
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79087	ALG12	OMIM:607143
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3549	IHH	OMIM:607778
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9742	IFT140	OMIM:266920
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	51025	PAM16	OMIM:613320
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	27152	INTU	OMIM:617925
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	255758	DYNLT2B	OMIM:617405
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	26005	C2CD3	OMIM:615948
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5727	PTCH1	OMIM:109400
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3930	LBR	OMIM:215140
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	65250	CPLANE1	OMIM:277170
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	259232	NALCN	OMIM:616266
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	650	BMP2	OMIM:617877
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1861	TOR1A	OMIM:618947
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55835	CENPJ	OMIM:613676
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5557	PRIM1	OMIM:620005
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	22800	RRAS2	OMIM:618624
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1788	DNMT3A	OMIM:618724
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8854	ALDH1A2	OMIM:620025
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5590	PRKCZ	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2563	GABRD	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	23013	SPEN	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8510	MMP23B	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7798	LUZP1	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10630	PDPN	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3339	HSPG2	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10277	UBE4B	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8514	KCNAB2	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	473	RERE	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	63976	PRDM16	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	54897	CASZ1	ORPHA:1606
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	526	ATP6V1B2	ORPHA:79500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57465	TBC1D24	ORPHA:79500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2317	FLNB	OMIM:108720
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6223	RPS19	OMIM:105650
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10236	HNRNPR	OMIM:620073
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	222663	SCUBE3	OMIM:619184
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9469	CHST3	OMIM:245600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	26229	B3GAT3	OMIM:245600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4927	NUP88	OMIM:618393
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10847	SRCAP	OMIM:136140
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10847	SRCAP	ORPHA:2044
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10013	HDAC6	OMIM:300863
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	23114	NFASC	OMIM:618356
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	11041	B4GAT1	OMIM:615287
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8942	KYNU	OMIM:617661
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	545	ATR	OMIM:210600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	93627	TBCK	ORPHA:488632
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	22995	CEP152	OMIM:613823
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2879	GPX4	OMIM:250220
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	126792	B3GALT6	OMIM:271640
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4784	NFIX	OMIM:602535
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57492	ARID1B	OMIM:135900
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	25836	NIPBL	OMIM:122470
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79583	TMEM231	ORPHA:2752
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	701	BUB1B	OMIM:257300
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9241	NOG	OMIM:186500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4036	LRP2	OMIM:222448
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7703	PCGF2	OMIM:618371
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2719	GPC3	OMIM:312870
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2239	GPC4	OMIM:312870
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	118924	FRA10AC1	OMIM:620113
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	26040	SETBP1	OMIM:269150
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3911	LAMA5	OMIM:620076
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8241	RBM10	ORPHA:2886
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8241	RBM10	OMIM:311900
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	54808	DYM	OMIM:223800
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	54808	DYM	OMIM:607326
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9321	TRIP11	OMIM:200600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	340419	RSPO2	OMIM:618022
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	50814	NSDHL	OMIM:308050
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2260	FGFR1	OMIM:166250
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1280	COL2A1	ORPHA:85166
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3636	INPPL1	ORPHA:3144
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	23169	SLC35D1	ORPHA:3144
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	23169	SLC35D1	OMIM:269250
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6913	TBX15	ORPHA:93333
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6913	TBX15	OMIM:260660
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	145258	GSC	OMIM:602471
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5447	POR	ORPHA:95699
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	60	ACTB	ORPHA:79107
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	60	ACTB	OMIM:607371
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57539	WDR35	OMIM:614091
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6926	TBX3	OMIM:181450
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	860	RUNX2	OMIM:119600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	860	RUNX2	ORPHA:1452
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	91179	SCARF2	OMIM:600920
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1301	COL11A1	OMIM:228520
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1301	COL11A1	ORPHA:2021
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1301	COL11A1	ORPHA:440354
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	54101	RIPK4	OMIM:263650
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2316	FLNA	OMIM:309350
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6662	SOX9	OMIM:114290
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5116	PCNT	OMIM:210720
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1302	COL11A2	ORPHA:2021
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5696	PSMB8	OMIM:256040
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	388015	RTL1	ORPHA:96334
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8788	DLK1	ORPHA:96334
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55384	MEG3	ORPHA:96334
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79158	GNPTAB	OMIM:252500
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	11285	B4GALT7	OMIM:130070
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4488	MSX2	ORPHA:60015
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4488	MSX2	OMIM:168550
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	60529	ALX4	ORPHA:60015
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8260	NAA10	OMIM:309800
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	54880	BCOR	OMIM:309800
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1108	CHD4	OMIM:617159
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	64131	XYLT1	OMIM:615777
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	64131	XYLT1	ORPHA:370930
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2263	FGFR2	ORPHA:313855
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2263	FGFR2	OMIM:614592
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6910	TBX5	OMIM:142900
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	267010	RNU12	OMIM:603116
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	633	BGN	OMIM:300106
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	51626	DYNC2LI1	OMIM:617088
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	221496	LEMD2	OMIM:619322
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9578	CDC42BPB	OMIM:619841
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3239	HOXD13	OMIM:113300
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	79633	FAT4	OMIM:615546
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7291	TWIST1	OMIM:617746
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8642	DCHS1	OMIM:601390
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	3425	IDUA	OMIM:607014
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	26224	FBXL3	OMIM:606220
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4920	ROR2	OMIM:268310
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9897	WASHC5	OMIM:220210
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9897	WASHC5	ORPHA:7
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10606	PAICS	OMIM:619859
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	168667	BMPER	ORPHA:66637
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	168667	BMPER	OMIM:608022
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7473	WNT3	ORPHA:3301
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	81839	VANGL1	ORPHA:3027
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	80199	FUZ	ORPHA:3027
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	28952	CCDC22	ORPHA:7
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5781	PTPN11	OMIM:151100
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4617	MYF5	OMIM:618155
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	112752	IFT43	OMIM:617866
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6911	TBX6	ORPHA:1797
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6911	TBX6	OMIM:122600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	84667	HES7	OMIM:613686
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2200	FBN1	ORPHA:2462
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6497	SKI	ORPHA:2462
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4990	SIX6	OMIM:206900
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6657	SOX2	OMIM:206900
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2313	FLI1	ORPHA:2308
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	29980	DONSON	OMIM:251230
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2261	FGFR3	OMIM:187601
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	2261	FGFR3	OMIM:187600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1947	EFNB1	ORPHA:1520
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1947	EFNB1	OMIM:304110
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	7476	WNT7A	OMIM:276820
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10269	ZMPSTE24	OMIM:275210
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5728	PTEN	ORPHA:79076
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	657	BMPR1A	ORPHA:79076
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	23594	ORC6	OMIM:613803
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4998	ORC1	OMIM:224690
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	64840	PORCN	OMIM:305600
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4010	LMX1B	OMIM:161200
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10262	SF3B4	OMIM:154400
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	538	ATP7A	ORPHA:198
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5745	PTH1R	ORPHA:50945
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	1513	CTSK	OMIM:265800
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9786	KIAA0586	OMIM:616546
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9791	PTDSS1	ORPHA:2658
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	100151683	RNU4ATAC	ORPHA:2636
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9487	PIGL	ORPHA:3474
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57167	SALL4	ORPHA:2307
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	81620	CDT1	ORPHA:2554
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	5000	ORC4	ORPHA:2554
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8318	CDC45	ORPHA:2554
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	990	CDC6	ORPHA:2554
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	51053	GMNN	ORPHA:2554
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	865	CBFB	OMIM:620099
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4000	LMNA	ORPHA:1662
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4000	LMNA	ORPHA:90153
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	10651	MTX2	ORPHA:90153
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	22827	PUF60	ORPHA:508498
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55780	ERMARD	ORPHA:75857
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4297	KMT2A	ORPHA:319182
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9896	FIG4	ORPHA:3472
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	55697	VAC14	ORPHA:3472
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	80144	FRAS1	OMIM:219000
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	6628	SNRPB	OMIM:117650
HP:0006713	Aplasia/Hypoplasia of the scapulae	54808	DYM	OMIM:223800
HP:0006713	Aplasia/Hypoplasia of the scapulae	54808	DYM	OMIM:607326
HP:0006713	Aplasia/Hypoplasia of the scapulae	9321	TRIP11	OMIM:200600
HP:0006713	Aplasia/Hypoplasia of the scapulae	340419	RSPO2	OMIM:618022
HP:0006713	Aplasia/Hypoplasia of the scapulae	50814	NSDHL	OMIM:308050
HP:0006713	Aplasia/Hypoplasia of the scapulae	2260	FGFR1	OMIM:166250
HP:0006713	Aplasia/Hypoplasia of the scapulae	1280	COL2A1	ORPHA:85166
HP:0006713	Aplasia/Hypoplasia of the scapulae	3636	INPPL1	ORPHA:3144
HP:0006713	Aplasia/Hypoplasia of the scapulae	23169	SLC35D1	ORPHA:3144
HP:0006713	Aplasia/Hypoplasia of the scapulae	23169	SLC35D1	OMIM:269250
HP:0006713	Aplasia/Hypoplasia of the scapulae	6913	TBX15	ORPHA:93333
HP:0006713	Aplasia/Hypoplasia of the scapulae	6913	TBX15	OMIM:260660
HP:0006713	Aplasia/Hypoplasia of the scapulae	145258	GSC	OMIM:602471
HP:0006713	Aplasia/Hypoplasia of the scapulae	5447	POR	ORPHA:95699
HP:0006713	Aplasia/Hypoplasia of the scapulae	60	ACTB	ORPHA:79107
HP:0006713	Aplasia/Hypoplasia of the scapulae	60	ACTB	OMIM:607371
HP:0006713	Aplasia/Hypoplasia of the scapulae	57539	WDR35	OMIM:614091
HP:0006713	Aplasia/Hypoplasia of the scapulae	6926	TBX3	OMIM:181450
HP:0006713	Aplasia/Hypoplasia of the scapulae	860	RUNX2	OMIM:119600
HP:0006713	Aplasia/Hypoplasia of the scapulae	860	RUNX2	ORPHA:1452
HP:0006713	Aplasia/Hypoplasia of the scapulae	91179	SCARF2	OMIM:600920
HP:0006713	Aplasia/Hypoplasia of the scapulae	1301	COL11A1	OMIM:228520
HP:0006713	Aplasia/Hypoplasia of the scapulae	1301	COL11A1	ORPHA:2021
HP:0006713	Aplasia/Hypoplasia of the scapulae	1301	COL11A1	ORPHA:440354
HP:0006713	Aplasia/Hypoplasia of the scapulae	54101	RIPK4	OMIM:263650
HP:0006713	Aplasia/Hypoplasia of the scapulae	2316	FLNA	OMIM:309350
HP:0006713	Aplasia/Hypoplasia of the scapulae	6662	SOX9	OMIM:114290
HP:0006713	Aplasia/Hypoplasia of the scapulae	5116	PCNT	OMIM:210720
HP:0006713	Aplasia/Hypoplasia of the scapulae	1302	COL11A2	ORPHA:2021
HP:0006713	Aplasia/Hypoplasia of the scapulae	5696	PSMB8	OMIM:256040
HP:0006713	Aplasia/Hypoplasia of the scapulae	388015	RTL1	ORPHA:96334
HP:0006713	Aplasia/Hypoplasia of the scapulae	8788	DLK1	ORPHA:96334
HP:0006713	Aplasia/Hypoplasia of the scapulae	55384	MEG3	ORPHA:96334
HP:0006713	Aplasia/Hypoplasia of the scapulae	79158	GNPTAB	OMIM:252500
HP:0006713	Aplasia/Hypoplasia of the scapulae	2261	FGFR3	OMIM:187601
HP:0006713	Aplasia/Hypoplasia of the scapulae	2261	FGFR3	OMIM:187600
HP:0006713	Aplasia/Hypoplasia of the scapulae	9896	FIG4	ORPHA:3472
HP:0006713	Aplasia/Hypoplasia of the scapulae	55697	VAC14	ORPHA:3472
HP:0006714	Aplasia/Hypoplasia of the sternum	4784	NFIX	OMIM:602535
HP:0006714	Aplasia/Hypoplasia of the sternum	57492	ARID1B	OMIM:135900
HP:0006714	Aplasia/Hypoplasia of the sternum	25836	NIPBL	OMIM:122470
HP:0006714	Aplasia/Hypoplasia of the sternum	79583	TMEM231	ORPHA:2752
HP:0006714	Aplasia/Hypoplasia of the sternum	701	BUB1B	OMIM:257300
HP:0006714	Aplasia/Hypoplasia of the sternum	9241	NOG	OMIM:186500
HP:0006714	Aplasia/Hypoplasia of the sternum	4036	LRP2	OMIM:222448
HP:0006714	Aplasia/Hypoplasia of the sternum	7703	PCGF2	OMIM:618371
HP:0006714	Aplasia/Hypoplasia of the sternum	2719	GPC3	OMIM:312870
HP:0006714	Aplasia/Hypoplasia of the sternum	2239	GPC4	OMIM:312870
HP:0006714	Aplasia/Hypoplasia of the sternum	118924	FRA10AC1	OMIM:620113
HP:0006714	Aplasia/Hypoplasia of the sternum	26040	SETBP1	OMIM:269150
HP:0006714	Aplasia/Hypoplasia of the sternum	3911	LAMA5	OMIM:620076
HP:0006714	Aplasia/Hypoplasia of the sternum	8241	RBM10	ORPHA:2886
HP:0006714	Aplasia/Hypoplasia of the sternum	8241	RBM10	OMIM:311900
HP:0006714	Aplasia/Hypoplasia of the sternum	9896	FIG4	OMIM:216340
HP:0006714	Aplasia/Hypoplasia of the sternum	9896	FIG4	ORPHA:3472
HP:0006714	Aplasia/Hypoplasia of the sternum	6662	SOX9	OMIM:114290
HP:0006714	Aplasia/Hypoplasia of the sternum	55697	VAC14	ORPHA:3472
HP:0006714	Aplasia/Hypoplasia of the sternum	23594	ORC6	OMIM:613803
HP:0006714	Aplasia/Hypoplasia of the sternum	4998	ORC1	OMIM:224690
HP:0006714	Aplasia/Hypoplasia of the sternum	80144	FRAS1	OMIM:219000
HP:0006715	Glomus tympanicum paraganglioma	54949	SDHAF2	OMIM:601650
HP:0006715	Glomus tympanicum paraganglioma	6392	SDHD	OMIM:168000
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	4072	EPCAM	OMIM:613244
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	6714	SRC	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	201163	FLCN	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	10395	DLC1	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	11200	CHEK2	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	8313	AXIN2	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5290	PIK3CA	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2033	EP300	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5782	PTPN12	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5320	PLA2G2A	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	6790	AURKA	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1630	DCC	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	27030	MLH3	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	27030	MLH3	OMIM:614385
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	581	BAX	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	25788	RAD54B	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	595	CCND1	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	699	BUB1	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	701	BUB1B	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2261	FGFR3	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	7097	TLR2	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	4893	NRAS	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	324	APC	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1499	CTNNB1	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	7157	TP53	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	4163	MCC	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	207	AKT1	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5157	PDGFRL	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5795	PTPRJ	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	673	BRAF	OMIM:114500
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5395	PMS2	OMIM:614337
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	5424	POLD1	OMIM:612591
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	7048	TGFBR2	OMIM:614331
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2956	MSH6	OMIM:614350
HP:0003003	Colon cancer	4292	MLH1	OMIM:158320
HP:0003003	Colon cancer	4292	MLH1	ORPHA:144
HP:0003003	Colon cancer	4292	MLH1	ORPHA:587
HP:0003003	Colon cancer	4292	MLH1	OMIM:609310
HP:0003003	Colon cancer	4436	MSH2	OMIM:158320
HP:0003003	Colon cancer	4436	MSH2	OMIM:619096
HP:0003003	Colon cancer	4436	MSH2	OMIM:120435
HP:0003003	Colon cancer	4436	MSH2	ORPHA:144
HP:0003003	Colon cancer	4436	MSH2	ORPHA:587
HP:0003003	Colon cancer	2956	MSH6	OMIM:619097
HP:0003003	Colon cancer	2956	MSH6	ORPHA:144
HP:0003003	Colon cancer	2956	MSH6	ORPHA:587
HP:0003003	Colon cancer	8313	AXIN2	ORPHA:401911
HP:0003003	Colon cancer	8313	AXIN2	OMIM:608615
HP:0003003	Colon cancer	30011	SH3KBP1	OMIM:300310
HP:0003003	Colon cancer	324	APC	ORPHA:261584
HP:0003003	Colon cancer	324	APC	ORPHA:99818
HP:0003003	Colon cancer	324	APC	OMIM:175100
HP:0003003	Colon cancer	324	APC	ORPHA:247806
HP:0003003	Colon cancer	324	APC	ORPHA:79665
HP:0003003	Colon cancer	324	APC	OMIM:135290
HP:0003003	Colon cancer	716	C1S	OMIM:617174
HP:0003003	Colon cancer	4089	SMAD4	OMIM:174900
HP:0003003	Colon cancer	4089	SMAD4	ORPHA:1333
HP:0003003	Colon cancer	657	BMPR1A	OMIM:174900
HP:0003003	Colon cancer	657	BMPR1A	ORPHA:157794
HP:0003003	Colon cancer	657	BMPR1A	OMIM:610069
HP:0003003	Colon cancer	26585	GREM1	ORPHA:157794
HP:0003003	Colon cancer	4913	NTHL1	ORPHA:454840
HP:0003003	Colon cancer	4913	NTHL1	OMIM:616415
HP:0003003	Colon cancer	7157	TP53	OMIM:151623
HP:0003003	Colon cancer	7157	TP53	ORPHA:524
HP:0003003	Colon cancer	7157	TP53	ORPHA:1333
HP:0003003	Colon cancer	8930	MBD4	OMIM:619975
HP:0003003	Colon cancer	5378	PMS1	OMIM:120435
HP:0003003	Colon cancer	5378	PMS1	ORPHA:144
HP:0003003	Colon cancer	4092	SMAD7	OMIM:612229
HP:0003003	Colon cancer	4595	MUTYH	OMIM:608456
HP:0003003	Colon cancer	6223	RPS19	OMIM:105650
HP:0003003	Colon cancer	1029	CDKN2A	ORPHA:524
HP:0003003	Colon cancer	1029	CDKN2A	ORPHA:1333
HP:0003003	Colon cancer	4193	MDM2	ORPHA:524
HP:0003003	Colon cancer	11200	CHEK2	ORPHA:524
HP:0003003	Colon cancer	4072	EPCAM	ORPHA:144
HP:0003003	Colon cancer	4072	EPCAM	OMIM:613244
HP:0003003	Colon cancer	5395	PMS2	ORPHA:144
HP:0003003	Colon cancer	5395	PMS2	OMIM:619101
HP:0003003	Colon cancer	27030	MLH3	ORPHA:144
HP:0003003	Colon cancer	22909	FAN1	ORPHA:144
HP:0003003	Colon cancer	7048	TGFBR2	ORPHA:144
HP:0003003	Colon cancer	3845	KRAS	ORPHA:144
HP:0003003	Colon cancer	3845	KRAS	ORPHA:1333
HP:0003003	Colon cancer	5290	PIK3CA	ORPHA:144
HP:0003003	Colon cancer	201163	FLCN	OMIM:135150
HP:0003003	Colon cancer	9184	BUB3	ORPHA:1052
HP:0003003	Colon cancer	699	BUB1	ORPHA:1052
HP:0003003	Colon cancer	9702	CEP57	ORPHA:1052
HP:0003003	Colon cancer	9319	TRIP13	ORPHA:1052
HP:0003003	Colon cancer	701	BUB1B	ORPHA:1052
HP:0003003	Colon cancer	672	BRCA1	ORPHA:1333
HP:0003003	Colon cancer	285282	RABL3	ORPHA:1333
HP:0003003	Colon cancer	675	BRCA2	ORPHA:1333
HP:0003003	Colon cancer	79728	PALB2	ORPHA:1333
HP:0003003	Colon cancer	23022	PALLD	ORPHA:1333
HP:0003003	Colon cancer	2304	FOXE1	ORPHA:319487
HP:0003003	Colon cancer	3026	HABP2	ORPHA:319487
HP:0003003	Colon cancer	9562	MINPP1	ORPHA:319487
HP:0003003	Colon cancer	4437	MSH3	ORPHA:480536
HP:0006719	Benign gastrointestinal tract tumors	4292	MLH1	OMIM:158320
HP:0006719	Benign gastrointestinal tract tumors	4436	MSH2	OMIM:158320
HP:0006719	Benign gastrointestinal tract tumors	2778	GNAS	ORPHA:562
HP:0005584	Renal cell carcinoma	201163	FLCN	ORPHA:122
HP:0005584	Renal cell carcinoma	201163	FLCN	OMIM:114500
HP:0005584	Renal cell carcinoma	201163	FLCN	OMIM:135150
HP:0005584	Renal cell carcinoma	201163	FLCN	OMIM:144700
HP:0005584	Renal cell carcinoma	7428	VHL	ORPHA:892
HP:0005584	Renal cell carcinoma	7428	VHL	ORPHA:29072
HP:0005584	Renal cell carcinoma	7428	VHL	OMIM:193300
HP:0005584	Renal cell carcinoma	7428	VHL	OMIM:144700
HP:0005584	Renal cell carcinoma	595	CCND1	ORPHA:892
HP:0005584	Renal cell carcinoma	595	CCND1	OMIM:114500
HP:0005584	Renal cell carcinoma	595	CCND1	OMIM:193300
HP:0005584	Renal cell carcinoma	6714	SRC	OMIM:114500
HP:0005584	Renal cell carcinoma	10395	DLC1	OMIM:114500
HP:0005584	Renal cell carcinoma	11200	CHEK2	OMIM:114500
HP:0005584	Renal cell carcinoma	8313	AXIN2	OMIM:114500
HP:0005584	Renal cell carcinoma	5290	PIK3CA	OMIM:114500
HP:0005584	Renal cell carcinoma	5290	PIK3CA	ORPHA:201
HP:0005584	Renal cell carcinoma	2033	EP300	OMIM:114500
HP:0005584	Renal cell carcinoma	5782	PTPN12	OMIM:114500
HP:0005584	Renal cell carcinoma	5320	PLA2G2A	OMIM:114500
HP:0005584	Renal cell carcinoma	6790	AURKA	OMIM:114500
HP:0005584	Renal cell carcinoma	1630	DCC	OMIM:114500
HP:0005584	Renal cell carcinoma	27030	MLH3	OMIM:114500
HP:0005584	Renal cell carcinoma	581	BAX	OMIM:114500
HP:0005584	Renal cell carcinoma	25788	RAD54B	OMIM:114500
HP:0005584	Renal cell carcinoma	699	BUB1	OMIM:114500
HP:0005584	Renal cell carcinoma	701	BUB1B	OMIM:114500
HP:0005584	Renal cell carcinoma	2261	FGFR3	OMIM:114500
HP:0005584	Renal cell carcinoma	7097	TLR2	OMIM:114500
HP:0005584	Renal cell carcinoma	4893	NRAS	OMIM:114500
HP:0005584	Renal cell carcinoma	324	APC	OMIM:114500
HP:0005584	Renal cell carcinoma	1499	CTNNB1	OMIM:114500
HP:0005584	Renal cell carcinoma	7157	TP53	OMIM:114500
HP:0005584	Renal cell carcinoma	4163	MCC	OMIM:114500
HP:0005584	Renal cell carcinoma	207	AKT1	OMIM:114500
HP:0005584	Renal cell carcinoma	207	AKT1	ORPHA:201
HP:0005584	Renal cell carcinoma	5157	PDGFRL	OMIM:114500
HP:0005584	Renal cell carcinoma	5795	PTPRJ	OMIM:114500
HP:0005584	Renal cell carcinoma	673	BRAF	OMIM:114500
HP:0005584	Renal cell carcinoma	10483	SEC23B	ORPHA:201
HP:0005584	Renal cell carcinoma	5728	PTEN	ORPHA:201
HP:0005584	Renal cell carcinoma	6390	SDHB	ORPHA:201
HP:0005584	Renal cell carcinoma	6390	SDHB	OMIM:115310
HP:0005584	Renal cell carcinoma	6390	SDHB	ORPHA:29072
HP:0005584	Renal cell carcinoma	6392	SDHD	ORPHA:201
HP:0005584	Renal cell carcinoma	6392	SDHD	ORPHA:29072
HP:0005584	Renal cell carcinoma	6391	SDHC	ORPHA:201
HP:0005584	Renal cell carcinoma	6391	SDHC	ORPHA:29072
HP:0005584	Renal cell carcinoma	205717	USF3	ORPHA:201
HP:0005584	Renal cell carcinoma	100144748	KLLN	ORPHA:201
HP:0005584	Renal cell carcinoma	7030	TFE3	OMIM:300854
HP:0005584	Renal cell carcinoma	7249	TSC2	OMIM:613254
HP:0005584	Renal cell carcinoma	7249	TSC2	ORPHA:805
HP:0005584	Renal cell carcinoma	3458	IFNG	OMIM:613254
HP:0005584	Renal cell carcinoma	3458	IFNG	ORPHA:805
HP:0005584	Renal cell carcinoma	79798	ARMC5	ORPHA:189427
HP:0005584	Renal cell carcinoma	2778	GNAS	ORPHA:189427
HP:0005584	Renal cell carcinoma	2271	FH	OMIM:150800
HP:0005584	Renal cell carcinoma	2271	FH	ORPHA:29072
HP:0005584	Renal cell carcinoma	8314	BAP1	OMIM:614327
HP:0005584	Renal cell carcinoma	6794	STK11	ORPHA:2869
HP:0005584	Renal cell carcinoma	1743	DLST	ORPHA:29072
HP:0005584	Renal cell carcinoma	4191	MDH2	ORPHA:29072
HP:0005584	Renal cell carcinoma	5979	RET	ORPHA:29072
HP:0005584	Renal cell carcinoma	6389	SDHA	ORPHA:29072
HP:0005584	Renal cell carcinoma	23095	KIF1B	ORPHA:29072
HP:0005584	Renal cell carcinoma	8402	SLC25A11	ORPHA:29072
HP:0005584	Renal cell carcinoma	54949	SDHAF2	ORPHA:29072
HP:0005584	Renal cell carcinoma	55654	TMEM127	ORPHA:29072
HP:0005584	Renal cell carcinoma	4763	NF1	ORPHA:29072
HP:0005584	Renal cell carcinoma	4149	MAX	ORPHA:29072
HP:0005584	Renal cell carcinoma	7248	TSC1	ORPHA:805
HP:0005584	Renal cell carcinoma	7248	TSC1	OMIM:191100
HP:0005584	Renal cell carcinoma	4968	OGG1	OMIM:144700
HP:0005584	Renal cell carcinoma	11236	RNF139	OMIM:144700
HP:0005584	Renal cell carcinoma	55193	PBRM1	OMIM:144700
HP:0005584	Renal cell carcinoma	6927	HNF1A	OMIM:144700
HP:0005584	Renal cell carcinoma	6928	HNF1B	OMIM:144700
HP:0005584	Renal cell carcinoma	6928	HNF1B	ORPHA:93111
HP:0005584	Renal cell carcinoma	9817	KEAP1	ORPHA:276399
HP:0005584	Renal cell carcinoma	23405	DICER1	ORPHA:276399
HP:0005584	Renal cell carcinoma	7373	COL14A1	ORPHA:79501
HP:0005584	Renal cell carcinoma	79719	AAGAB	ORPHA:79501
HP:0005584	Renal cell carcinoma	79577	CDC73	OMIM:145001
HP:0005584	Renal cell carcinoma	4000	LMNA	ORPHA:363618
HP:0005584	Renal cell carcinoma	2304	FOXE1	ORPHA:319487
HP:0005584	Renal cell carcinoma	3026	HABP2	ORPHA:319487
HP:0005584	Renal cell carcinoma	9562	MINPP1	ORPHA:319487
HP:0005584	Renal cell carcinoma	4233	MET	OMIM:605074
HP:0005584	Renal cell carcinoma	5546	PRCC	OMIM:605074
HP:0005584	Renal cell carcinoma	64127	NOD2	ORPHA:90340
HP:0006721	Acute lymphoblastic leukemia	2120	ETV6	OMIM:616216
HP:0006721	Acute lymphoblastic leukemia	6929	TCF3	OMIM:619824
HP:0006721	Acute lymphoblastic leukemia	25	ABL1	OMIM:608232
HP:0006721	Acute lymphoblastic leukemia	613	BCR	OMIM:608232
HP:0006721	Acute lymphoblastic leukemia	10312	TCIRG1	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	1991	ELANE	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	2672	GFI1	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	6729	SRP54	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	81570	CLPB	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	3981	LIG4	ORPHA:235
HP:0006721	Acute lymphoblastic leukemia	3981	LIG4	OMIM:606593
HP:0006721	Acute lymphoblastic leukemia	54888	NSUN2	ORPHA:235
HP:0006721	Acute lymphoblastic leukemia	641	BLM	ORPHA:125
HP:0006721	Acute lymphoblastic leukemia	9184	BUB3	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	699	BUB1	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	9702	CEP57	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	9319	TRIP13	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	701	BUB1B	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	581	BAX	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	2322	FLT3	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	2782	GNB1	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	4683	NBN	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	8021	NUP214	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	6886	TAL1	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	6887	TAL2	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	9487	PIGL	OMIM:280000
HP:0006721	Acute lymphoblastic leukemia	10320	IKZF1	OMIM:616873
HP:0006721	Acute lymphoblastic leukemia	472	ATM	OMIM:208900
HP:0006721	Acute lymphoblastic leukemia	10456	HAX1	OMIM:610738
HP:0006721	Acute lymphoblastic leukemia	64324	NSD1	ORPHA:821
HP:0006721	Acute lymphoblastic leukemia	29072	SETD2	ORPHA:821
HP:0006721	Acute lymphoblastic leukemia	10297	APC2	ORPHA:821
HP:0006721	Acute lymphoblastic leukemia	7157	TP53	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	1029	CDKN2A	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	4193	MDM2	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	11200	CHEK2	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	675	BRCA2	OMIM:605724
HP:0006721	Acute lymphoblastic leukemia	675	BRCA2	OMIM:613029
HP:0006721	Acute lymphoblastic leukemia	4436	MSH2	OMIM:619096
HP:0006721	Acute lymphoblastic leukemia	1854	DUT	OMIM:620044
HP:0006722	Small intestine carcinoid	324	APC	OMIM:175100
HP:0006722	Small intestine carcinoid	324	APC	ORPHA:79665
HP:0006722	Small intestine carcinoid	6392	SDHD	ORPHA:100093
HP:0006723	Intestinal carcinoid	4221	MEN1	ORPHA:652
HP:0006723	Intestinal carcinoid	1027	CDKN1B	ORPHA:652
HP:0006723	Intestinal carcinoid	1026	CDKN1A	ORPHA:652
HP:0006723	Intestinal carcinoid	1030	CDKN2B	ORPHA:652
HP:0006723	Intestinal carcinoid	1031	CDKN2C	ORPHA:652
HP:0006723	Intestinal carcinoid	6392	SDHD	ORPHA:100093
HP:0004808	Acute myeloid leukemia	2672	GFI1	OMIM:607847
HP:0004808	Acute myeloid leukemia	2672	GFI1	ORPHA:486
HP:0004808	Acute myeloid leukemia	675	BRCA2	OMIM:605724
HP:0004808	Acute myeloid leukemia	675	BRCA2	OMIM:613029
HP:0004808	Acute myeloid leukemia	128	ADH5	OMIM:619151
HP:0004808	Acute myeloid leukemia	4352	MPL	ORPHA:71493
HP:0004808	Acute myeloid leukemia	7066	THPO	ORPHA:71493
HP:0004808	Acute myeloid leukemia	3717	JAK2	ORPHA:71493
HP:0004808	Acute myeloid leukemia	3717	JAK2	OMIM:601626
HP:0004808	Acute myeloid leukemia	26511	CHIC2	OMIM:601626
HP:0004808	Acute myeloid leukemia	3845	KRAS	OMIM:601626
HP:0004808	Acute myeloid leukemia	8021	NUP214	OMIM:601626
HP:0004808	Acute myeloid leukemia	2120	ETV6	OMIM:601626
HP:0004808	Acute myeloid leukemia	1050	CEBPA	OMIM:601626
HP:0004808	Acute myeloid leukemia	2624	GATA2	OMIM:601626
HP:0004808	Acute myeloid leukemia	2624	GATA2	ORPHA:98827
HP:0004808	Acute myeloid leukemia	2624	GATA2	OMIM:614038
HP:0004808	Acute myeloid leukemia	7015	TERT	OMIM:601626
HP:0004808	Acute myeloid leukemia	2322	FLT3	OMIM:601626
HP:0004808	Acute myeloid leukemia	861	RUNX1	OMIM:601626
HP:0004808	Acute myeloid leukemia	861	RUNX1	OMIM:601399
HP:0004808	Acute myeloid leukemia	1788	DNMT3A	OMIM:601626
HP:0004808	Acute myeloid leukemia	6455	SH3GL1	OMIM:601626
HP:0004808	Acute myeloid leukemia	4869	NPM1	OMIM:601626
HP:0004808	Acute myeloid leukemia	8028	MLLT10	OMIM:601626
HP:0004808	Acute myeloid leukemia	3815	KIT	OMIM:601626
HP:0004808	Acute myeloid leukemia	3815	KIT	ORPHA:98849
HP:0004808	Acute myeloid leukemia	8301	PICALM	OMIM:601626
HP:0004808	Acute myeloid leukemia	4026	LPP	OMIM:601626
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	OMIM:617052
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	OMIM:260400
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	ORPHA:811
HP:0004808	Acute myeloid leukemia	6208	RPS14	ORPHA:86841
HP:0004808	Acute myeloid leukemia	8930	MBD4	OMIM:619975
HP:0004808	Acute myeloid leukemia	219285	SAMD9L	OMIM:252270
HP:0004808	Acute myeloid leukemia	171023	ASXL1	ORPHA:98849
HP:0004808	Acute myeloid leukemia	54790	TET2	ORPHA:98849
HP:0004808	Acute myeloid leukemia	54790	TET2	ORPHA:75564
HP:0004808	Acute myeloid leukemia	6427	SRSF2	ORPHA:98849
HP:0004808	Acute myeloid leukemia	4210	MEFV	ORPHA:3243
HP:0004808	Acute myeloid leukemia	1736	DKC1	OMIM:305000
HP:0004808	Acute myeloid leukemia	2065	ERBB3	OMIM:133180
HP:0004808	Acute myeloid leukemia	23451	SF3B1	ORPHA:75564
HP:0004808	Acute myeloid leukemia	7157	TP53	ORPHA:524
HP:0004808	Acute myeloid leukemia	1029	CDKN2A	ORPHA:524
HP:0004808	Acute myeloid leukemia	4193	MDM2	ORPHA:524
HP:0004808	Acute myeloid leukemia	11200	CHEK2	ORPHA:524
HP:0004808	Acute myeloid leukemia	10312	TCIRG1	ORPHA:486
HP:0004808	Acute myeloid leukemia	1991	ELANE	ORPHA:486
HP:0004808	Acute myeloid leukemia	6729	SRP54	ORPHA:486
HP:0004808	Acute myeloid leukemia	6729	SRP54	OMIM:260400
HP:0004808	Acute myeloid leukemia	6729	SRP54	ORPHA:811
HP:0004808	Acute myeloid leukemia	81570	CLPB	ORPHA:486
HP:0004808	Acute myeloid leukemia	641	BLM	ORPHA:125
HP:0004808	Acute myeloid leukemia	54809	SAMD9	OMIM:619041
HP:0004808	Acute myeloid leukemia	6135	RPL11	ORPHA:124
HP:0004808	Acute myeloid leukemia	6138	RPL15	ORPHA:124
HP:0004808	Acute myeloid leukemia	6229	RPS24	ORPHA:124
HP:0004808	Acute myeloid leukemia	6125	RPL5	ORPHA:124
HP:0004808	Acute myeloid leukemia	6204	RPS10	ORPHA:124
HP:0004808	Acute myeloid leukemia	6224	RPS20	ORPHA:124
HP:0004808	Acute myeloid leukemia	6165	RPL35A	ORPHA:124
HP:0004808	Acute myeloid leukemia	2623	GATA1	ORPHA:124
HP:0004808	Acute myeloid leukemia	6223	RPS19	ORPHA:124
HP:0004808	Acute myeloid leukemia	6232	RPS27	ORPHA:124
HP:0004808	Acute myeloid leukemia	6231	RPS26	ORPHA:124
HP:0004808	Acute myeloid leukemia	11224	RPL35	ORPHA:124
HP:0004808	Acute myeloid leukemia	6160	RPL31	ORPHA:124
HP:0004808	Acute myeloid leukemia	6218	RPS17	ORPHA:124
HP:0004808	Acute myeloid leukemia	6201	RPS7	ORPHA:124
HP:0004808	Acute myeloid leukemia	6155	RPL27	ORPHA:124
HP:0004808	Acute myeloid leukemia	6154	RPL26	ORPHA:124
HP:0004808	Acute myeloid leukemia	6210	RPS15A	ORPHA:124
HP:0004808	Acute myeloid leukemia	90121	TSR2	ORPHA:124
HP:0004808	Acute myeloid leukemia	6141	RPL18	ORPHA:124
HP:0004808	Acute myeloid leukemia	6235	RPS29	ORPHA:124
HP:0004808	Acute myeloid leukemia	6234	RPS28	ORPHA:124
HP:0004808	Acute myeloid leukemia	51816	ADA2	ORPHA:124
HP:0004808	Acute myeloid leukemia	51119	SBDS	OMIM:260400
HP:0004808	Acute myeloid leukemia	51119	SBDS	ORPHA:811
HP:0004808	Acute myeloid leukemia	51428	DDX41	OMIM:616871
HP:0004808	Acute myeloid leukemia	29089	UBE2T	OMIM:616435
HP:0004808	Acute myeloid leukemia	79631	EFL1	ORPHA:811
HP:0006725	Pancreatic adenocarcinoma	23022	PALLD	OMIM:606856
HP:0006725	Pancreatic adenocarcinoma	23022	PALLD	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	4072	EPCAM	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	4292	MLH1	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	5395	PMS2	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	27030	MLH3	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	22909	FAN1	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	7048	TGFBR2	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	3845	KRAS	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	3845	KRAS	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	5290	PIK3CA	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	2956	MSH6	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	5378	PMS1	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	4436	MSH2	ORPHA:144
HP:0006725	Pancreatic adenocarcinoma	79577	CDC73	ORPHA:143
HP:0006725	Pancreatic adenocarcinoma	79577	CDC73	ORPHA:99880
HP:0006725	Pancreatic adenocarcinoma	79577	CDC73	OMIM:145001
HP:0006725	Pancreatic adenocarcinoma	11330	CTRC	ORPHA:103918
HP:0006725	Pancreatic adenocarcinoma	6690	SPINK1	ORPHA:103918
HP:0006725	Pancreatic adenocarcinoma	54894	RNF43	ORPHA:157798
HP:0006725	Pancreatic adenocarcinoma	285282	RABL3	OMIM:618680
HP:0006725	Pancreatic adenocarcinoma	285282	RABL3	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	4913	NTHL1	ORPHA:454840
HP:0006725	Pancreatic adenocarcinoma	4913	NTHL1	OMIM:616415
HP:0006725	Pancreatic adenocarcinoma	1029	CDKN2A	OMIM:606719
HP:0006725	Pancreatic adenocarcinoma	1029	CDKN2A	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	64218	SEMA4A	ORPHA:440437
HP:0006725	Pancreatic adenocarcinoma	657	BMPR1A	ORPHA:440437
HP:0006725	Pancreatic adenocarcinoma	6224	RPS20	ORPHA:440437
HP:0006725	Pancreatic adenocarcinoma	672	BRCA1	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	7157	TP53	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	675	BRCA2	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	79728	PALB2	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	4089	SMAD4	ORPHA:1333
HP:0006725	Pancreatic adenocarcinoma	6794	STK11	ORPHA:2869
HP:0006725	Pancreatic adenocarcinoma	7373	COL14A1	ORPHA:79501
HP:0006725	Pancreatic adenocarcinoma	79719	AAGAB	ORPHA:79501
HP:0001909	Leukemia	861	RUNX1	ORPHA:98850
HP:0001909	Leukemia	2177	FANCD2	OMIM:227646
HP:0001909	Leukemia	2176	FANCC	OMIM:227645
HP:0001909	Leukemia	2189	FANCG	OMIM:614082
HP:0001909	Leukemia	8294	H4C9	OMIM:619951
HP:0001909	Leukemia	25913	POT1	OMIM:616568
HP:0001909	Leukemia	6335	SCN9A	ORPHA:90026
HP:0001909	Leukemia	11280	SCN11A	ORPHA:90026
HP:0001909	Leukemia	6336	SCN10A	ORPHA:90026
HP:0001909	Leukemia	1387	CREBBP	OMIM:180849
HP:0001909	Leukemia	2033	EP300	OMIM:180849
HP:0001909	Leukemia	9401	RECQL4	ORPHA:221016
HP:0001909	Leukemia	324	APC	ORPHA:99818
HP:0001909	Leukemia	2065	ERBB3	OMIM:133180
HP:0001909	Leukemia	5925	RB1	OMIM:180200
HP:0001909	Leukemia	4292	MLH1	OMIM:276300
HP:0001909	Leukemia	701	BUB1B	OMIM:257300
HP:0001909	Leukemia	1029	CDKN2A	ORPHA:524
HP:0001909	Leukemia	4193	MDM2	ORPHA:524
HP:0001909	Leukemia	11200	CHEK2	ORPHA:524
HP:0001909	Leukemia	10312	TCIRG1	ORPHA:486
HP:0001909	Leukemia	1991	ELANE	ORPHA:486
HP:0001909	Leukemia	2672	GFI1	ORPHA:486
HP:0001909	Leukemia	6729	SRP54	ORPHA:486
HP:0001909	Leukemia	6729	SRP54	ORPHA:811
HP:0001909	Leukemia	81570	CLPB	ORPHA:486
HP:0001909	Leukemia	4615	MYD88	ORPHA:33226
HP:0001909	Leukemia	4615	MYD88	OMIM:153600
HP:0001909	Leukemia	5290	PIK3CA	OMIM:602501
HP:0001909	Leukemia	2178	FANCE	OMIM:600901
HP:0001909	Leukemia	2175	FANCA	OMIM:227650
HP:0001909	Leukemia	3832	KIF11	ORPHA:2526
HP:0001909	Leukemia	641	BLM	OMIM:210900
HP:0001909	Leukemia	472	ATM	OMIM:208900
HP:0001909	Leukemia	8216	LZTR1	OMIM:605275
HP:0001909	Leukemia	134218	DNAJC21	ORPHA:811
HP:0001909	Leukemia	79631	EFL1	ORPHA:811
HP:0001909	Leukemia	51119	SBDS	ORPHA:811
HP:0001909	Leukemia	23476	BRD4	ORPHA:443167
HP:0001909	Leukemia	256646	NUTM1	ORPHA:443167
HP:0001909	Leukemia	64682	ANAPC1	ORPHA:221008
HP:0001909	Leukemia	5566	PRKACA	ORPHA:289
HP:0001909	Leukemia	5567	PRKACB	ORPHA:289
HP:0001909	Leukemia	2735	GLI1	ORPHA:289
HP:0001909	Leukemia	2121	EVC	ORPHA:289
HP:0001909	Leukemia	51626	DYNC2LI1	ORPHA:289
HP:0001909	Leukemia	132884	EVC2	ORPHA:289
HP:0001909	Leukemia	546	ATRX	ORPHA:231401
HP:0001909	Leukemia	7157	TP53	OMIM:151623
HP:0001909	Leukemia	7157	TP53	ORPHA:3318
HP:0001909	Leukemia	10019	SH2B3	ORPHA:3318
HP:0001909	Leukemia	811	CALR	ORPHA:3318
HP:0001909	Leukemia	4352	MPL	ORPHA:3318
HP:0001909	Leukemia	4352	MPL	ORPHA:729
HP:0001909	Leukemia	3717	JAK2	ORPHA:3318
HP:0001909	Leukemia	3717	JAK2	ORPHA:729
HP:0001909	Leukemia	54790	TET2	ORPHA:3318
HP:0001909	Leukemia	54790	TET2	ORPHA:729
HP:0001909	Leukemia	412	STS	ORPHA:281090
HP:0001909	Leukemia	7454	WAS	ORPHA:906
HP:0001909	Leukemia	7456	WIPF1	ORPHA:906
HP:0001909	Leukemia	7518	XRCC4	ORPHA:99812
HP:0001909	Leukemia	3981	LIG4	ORPHA:99812
HP:0001909	Leukemia	7305	TYROBP	ORPHA:2770
HP:0001909	Leukemia	54209	TREM2	ORPHA:2770
HP:0001909	Leukemia	4683	NBN	ORPHA:647
HP:0001909	Leukemia	9487	PIGL	ORPHA:3474
HP:0001909	Leukemia	2624	GATA2	ORPHA:3226
HP:0001909	Leukemia	128	ADH5	OMIM:619151
HP:0001909	Leukemia	7066	THPO	ORPHA:71493
HP:0001909	Leukemia	26511	CHIC2	OMIM:601626
HP:0001909	Leukemia	8021	NUP214	OMIM:601626
HP:0001909	Leukemia	2120	ETV6	OMIM:601626
HP:0001909	Leukemia	1050	CEBPA	OMIM:601626
HP:0001909	Leukemia	2322	FLT3	OMIM:601626
HP:0001909	Leukemia	6455	SH3GL1	OMIM:601626
HP:0001909	Leukemia	4869	NPM1	OMIM:601626
HP:0001909	Leukemia	8028	MLLT10	OMIM:601626
HP:0001909	Leukemia	8301	PICALM	OMIM:601626
HP:0001909	Leukemia	4026	LPP	OMIM:601626
HP:0001909	Leukemia	6208	RPS14	ORPHA:86841
HP:0001909	Leukemia	8930	MBD4	OMIM:619975
HP:0001909	Leukemia	1736	DKC1	OMIM:305000
HP:0001909	Leukemia	23451	SF3B1	ORPHA:75564
HP:0001909	Leukemia	54809	SAMD9	OMIM:619041
HP:0001909	Leukemia	6135	RPL11	ORPHA:124
HP:0001909	Leukemia	6138	RPL15	ORPHA:124
HP:0001909	Leukemia	6229	RPS24	ORPHA:124
HP:0001909	Leukemia	6125	RPL5	ORPHA:124
HP:0001909	Leukemia	6204	RPS10	ORPHA:124
HP:0001909	Leukemia	6224	RPS20	ORPHA:124
HP:0001909	Leukemia	6165	RPL35A	ORPHA:124
HP:0001909	Leukemia	2623	GATA1	ORPHA:124
HP:0001909	Leukemia	6223	RPS19	ORPHA:124
HP:0001909	Leukemia	6232	RPS27	ORPHA:124
HP:0001909	Leukemia	6231	RPS26	ORPHA:124
HP:0001909	Leukemia	11224	RPL35	ORPHA:124
HP:0001909	Leukemia	6160	RPL31	ORPHA:124
HP:0001909	Leukemia	6218	RPS17	ORPHA:124
HP:0001909	Leukemia	6201	RPS7	ORPHA:124
HP:0001909	Leukemia	6155	RPL27	ORPHA:124
HP:0001909	Leukemia	6154	RPL26	ORPHA:124
HP:0001909	Leukemia	6210	RPS15A	ORPHA:124
HP:0001909	Leukemia	90121	TSR2	ORPHA:124
HP:0001909	Leukemia	6141	RPL18	ORPHA:124
HP:0001909	Leukemia	6235	RPS29	ORPHA:124
HP:0001909	Leukemia	6234	RPS28	ORPHA:124
HP:0001909	Leukemia	51816	ADA2	ORPHA:124
HP:0001909	Leukemia	51428	DDX41	OMIM:616871
HP:0001909	Leukemia	29089	UBE2T	OMIM:616435
HP:0001909	Leukemia	6929	TCF3	OMIM:619824
HP:0001909	Leukemia	219285	SAMD9L	OMIM:159550
HP:0001909	Leukemia	219285	SAMD9L	ORPHA:2585
HP:0001909	Leukemia	3417	IDH1	ORPHA:99646
HP:0001909	Leukemia	4926	NUMA1	OMIM:612376
HP:0001909	Leukemia	5914	RARA	OMIM:612376
HP:0001909	Leukemia	6609	SMPD1	ORPHA:77293
HP:0001909	Leukemia	161742	SPRED1	ORPHA:137605
HP:0001909	Leukemia	25	ABL1	OMIM:608232
HP:0001909	Leukemia	613	BCR	OMIM:608232
HP:0001909	Leukemia	210	ALAD	ORPHA:100924
HP:0001909	Leukemia	5159	PDGFRB	OMIM:131440
HP:0001909	Leukemia	5156	PDGFRA	OMIM:607685
HP:0001909	Leukemia	5295	PIK3R1	OMIM:616005
HP:0001909	Leukemia	171023	ASXL1	ORPHA:98849
HP:0001909	Leukemia	3815	KIT	ORPHA:98849
HP:0001909	Leukemia	6427	SRSF2	ORPHA:98849
HP:0001909	Leukemia	4210	MEFV	ORPHA:3243
HP:0001909	Leukemia	10535	RNASEH2A	ORPHA:51
HP:0001909	Leukemia	84153	RNASEH2C	ORPHA:51
HP:0001909	Leukemia	25939	SAMHD1	ORPHA:51
HP:0001909	Leukemia	79621	RNASEH2B	ORPHA:51
HP:0001909	Leukemia	103	ADAR	ORPHA:51
HP:0001909	Leukemia	11277	TREX1	ORPHA:51
HP:0001909	Leukemia	100147744	RNU7-1	ORPHA:51
HP:0001909	Leukemia	134353	LSM11	ORPHA:51
HP:0001909	Leukemia	64135	IFIH1	ORPHA:51
HP:0001909	Leukemia	54888	NSUN2	ORPHA:235
HP:0001909	Leukemia	9184	BUB3	ORPHA:1052
HP:0001909	Leukemia	699	BUB1	ORPHA:1052
HP:0001909	Leukemia	9702	CEP57	ORPHA:1052
HP:0001909	Leukemia	9319	TRIP13	ORPHA:1052
HP:0001909	Leukemia	581	BAX	OMIM:613065
HP:0001909	Leukemia	2782	GNB1	OMIM:613065
HP:0001909	Leukemia	6886	TAL1	OMIM:613065
HP:0001909	Leukemia	6887	TAL2	OMIM:613065
HP:0001909	Leukemia	10320	IKZF1	OMIM:616873
HP:0001909	Leukemia	10456	HAX1	OMIM:610738
HP:0001909	Leukemia	64324	NSD1	ORPHA:821
HP:0001909	Leukemia	29072	SETD2	ORPHA:821
HP:0001909	Leukemia	10297	APC2	ORPHA:821
HP:0001909	Leukemia	675	BRCA2	OMIM:605724
HP:0001909	Leukemia	675	BRCA2	OMIM:613029
HP:0001909	Leukemia	4436	MSH2	OMIM:619096
HP:0001909	Leukemia	1854	DUT	OMIM:620044
HP:0001909	Leukemia	867	CBL	OMIM:613563
HP:0001909	Leukemia	867	CBL	OMIM:607785
HP:0001909	Leukemia	4893	NRAS	OMIM:613224
HP:0001909	Leukemia	3845	KRAS	OMIM:609942
HP:0001909	Leukemia	4763	NF1	OMIM:607785
HP:0001909	Leukemia	23092	ARHGAP26	OMIM:607785
HP:0001909	Leukemia	5781	PTPN11	OMIM:607785
HP:0001909	Leukemia	5781	PTPN11	OMIM:163950
HP:0001909	Leukemia	5604	MAP2K1	OMIM:163950
HP:0001909	Leukemia	673	BRAF	OMIM:163950
HP:0001909	Leukemia	2165	F13B	ORPHA:331
HP:0001909	Leukemia	2162	F13A1	ORPHA:331
HP:0001909	Leukemia	7015	TERT	OMIM:614742
HP:0001909	Leukemia	7012	TERC	OMIM:614743
HP:0001909	Leukemia	1788	DNMT3A	ORPHA:404443
HP:0001909	Leukemia	26040	SETBP1	ORPHA:798
HP:0006727	T-cell acute lymphoblastic leukemias	675	BRCA2	OMIM:605724
HP:0006727	T-cell acute lymphoblastic leukemias	675	BRCA2	OMIM:613029
HP:0006727	T-cell acute lymphoblastic leukemias	4436	MSH2	OMIM:619096
HP:0006727	T-cell acute lymphoblastic leukemias	1854	DUT	OMIM:620044
HP:0002863	Myelodysplasia	128	ADH5	OMIM:619151
HP:0002863	Myelodysplasia	4352	MPL	ORPHA:71493
HP:0002863	Myelodysplasia	4352	MPL	ORPHA:729
HP:0002863	Myelodysplasia	4352	MPL	ORPHA:3318
HP:0002863	Myelodysplasia	7066	THPO	ORPHA:71493
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:71493
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:729
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:3318
HP:0002863	Myelodysplasia	54809	SAMD9	OMIM:617053
HP:0002863	Myelodysplasia	54809	SAMD9	OMIM:619041
HP:0002863	Myelodysplasia	8294	H4C9	OMIM:619951
HP:0002863	Myelodysplasia	7015	TERT	OMIM:614742
HP:0002863	Myelodysplasia	7015	TERT	OMIM:127550
HP:0002863	Myelodysplasia	9401	RECQL4	ORPHA:221016
HP:0002863	Myelodysplasia	219285	SAMD9L	OMIM:252270
HP:0002863	Myelodysplasia	171023	ASXL1	ORPHA:98849
HP:0002863	Myelodysplasia	171023	ASXL1	OMIM:614286
HP:0002863	Myelodysplasia	3815	KIT	ORPHA:98849
HP:0002863	Myelodysplasia	6427	SRSF2	ORPHA:98849
HP:0002863	Myelodysplasia	1736	DKC1	OMIM:305000
HP:0002863	Myelodysplasia	5781	PTPN11	ORPHA:500
HP:0002863	Myelodysplasia	673	BRAF	ORPHA:500
HP:0002863	Myelodysplasia	5894	RAF1	ORPHA:500
HP:0002863	Myelodysplasia	3981	LIG4	OMIM:606593
HP:0002863	Myelodysplasia	114803	MYSM1	ORPHA:508542
HP:0002863	Myelodysplasia	7317	UBA1	OMIM:301054
HP:0002863	Myelodysplasia	51119	SBDS	OMIM:260400
HP:0002863	Myelodysplasia	51119	SBDS	ORPHA:811
HP:0002863	Myelodysplasia	134218	DNAJC21	OMIM:260400
HP:0002863	Myelodysplasia	134218	DNAJC21	ORPHA:811
HP:0002863	Myelodysplasia	6729	SRP54	OMIM:260400
HP:0002863	Myelodysplasia	6729	SRP54	ORPHA:811
HP:0002863	Myelodysplasia	6729	SRP54	ORPHA:486
HP:0002863	Myelodysplasia	55159	RFWD3	OMIM:617784
HP:0002863	Myelodysplasia	55159	RFWD3	ORPHA:84
HP:0002863	Myelodysplasia	546	ATRX	OMIM:300448
HP:0002863	Myelodysplasia	546	ATRX	ORPHA:231401
HP:0002863	Myelodysplasia	6731	SRP72	OMIM:614675
HP:0002863	Myelodysplasia	6117	RPA1	OMIM:619767
HP:0002863	Myelodysplasia	26277	TINF2	OMIM:127550
HP:0002863	Myelodysplasia	7012	TERC	OMIM:127550
HP:0002863	Myelodysplasia	9837	GINS1	OMIM:617827
HP:0002863	Myelodysplasia	79631	EFL1	ORPHA:811
HP:0002863	Myelodysplasia	2189	FANCG	OMIM:614082
HP:0002863	Myelodysplasia	2189	FANCG	ORPHA:84
HP:0002863	Myelodysplasia	2782	GNB1	OMIM:614286
HP:0002863	Myelodysplasia	6603	SMARCD2	OMIM:617475
HP:0002863	Myelodysplasia	162417	NAGS	ORPHA:927
HP:0002863	Myelodysplasia	672	BRCA1	ORPHA:84
HP:0002863	Myelodysplasia	10459	MAD2L2	ORPHA:84
HP:0002863	Myelodysplasia	7516	XRCC2	ORPHA:84
HP:0002863	Myelodysplasia	29089	UBE2T	ORPHA:84
HP:0002863	Myelodysplasia	675	BRCA2	ORPHA:84
HP:0002863	Myelodysplasia	55120	FANCL	ORPHA:84
HP:0002863	Myelodysplasia	2177	FANCD2	ORPHA:84
HP:0002863	Myelodysplasia	2175	FANCA	ORPHA:84
HP:0002863	Myelodysplasia	2187	FANCB	ORPHA:84
HP:0002863	Myelodysplasia	2176	FANCC	ORPHA:84
HP:0002863	Myelodysplasia	2178	FANCE	ORPHA:84
HP:0002863	Myelodysplasia	2188	FANCF	ORPHA:84
HP:0002863	Myelodysplasia	5888	RAD51	ORPHA:84
HP:0002863	Myelodysplasia	5889	RAD51C	ORPHA:84
HP:0002863	Myelodysplasia	83990	BRIP1	ORPHA:84
HP:0002863	Myelodysplasia	57697	FANCM	ORPHA:84
HP:0002863	Myelodysplasia	79728	PALB2	ORPHA:84
HP:0002863	Myelodysplasia	84464	SLX4	ORPHA:84
HP:0002863	Myelodysplasia	2072	ERCC4	ORPHA:84
HP:0002863	Myelodysplasia	55215	FANCI	ORPHA:84
HP:0002863	Myelodysplasia	23218	NBEAL2	ORPHA:721
HP:0002863	Myelodysplasia	6223	RPS19	OMIM:105650
HP:0002863	Myelodysplasia	6223	RPS19	ORPHA:124
HP:0002863	Myelodysplasia	7157	TP53	ORPHA:524
HP:0002863	Myelodysplasia	7157	TP53	ORPHA:3318
HP:0002863	Myelodysplasia	1029	CDKN2A	ORPHA:524
HP:0002863	Myelodysplasia	4193	MDM2	ORPHA:524
HP:0002863	Myelodysplasia	11200	CHEK2	ORPHA:524
HP:0002863	Myelodysplasia	1441	CSF3R	OMIM:162830
HP:0002863	Myelodysplasia	10312	TCIRG1	ORPHA:486
HP:0002863	Myelodysplasia	1991	ELANE	ORPHA:486
HP:0002863	Myelodysplasia	2672	GFI1	ORPHA:486
HP:0002863	Myelodysplasia	81570	CLPB	ORPHA:486
HP:0002863	Myelodysplasia	861	RUNX1	OMIM:601399
HP:0002863	Myelodysplasia	641	BLM	ORPHA:125
HP:0002863	Myelodysplasia	6135	RPL11	ORPHA:124
HP:0002863	Myelodysplasia	6138	RPL15	ORPHA:124
HP:0002863	Myelodysplasia	6229	RPS24	ORPHA:124
HP:0002863	Myelodysplasia	6125	RPL5	ORPHA:124
HP:0002863	Myelodysplasia	6204	RPS10	ORPHA:124
HP:0002863	Myelodysplasia	6224	RPS20	ORPHA:124
HP:0002863	Myelodysplasia	6165	RPL35A	ORPHA:124
HP:0002863	Myelodysplasia	2623	GATA1	ORPHA:124
HP:0002863	Myelodysplasia	6232	RPS27	ORPHA:124
HP:0002863	Myelodysplasia	6231	RPS26	ORPHA:124
HP:0002863	Myelodysplasia	11224	RPL35	ORPHA:124
HP:0002863	Myelodysplasia	6160	RPL31	ORPHA:124
HP:0002863	Myelodysplasia	6218	RPS17	ORPHA:124
HP:0002863	Myelodysplasia	6201	RPS7	ORPHA:124
HP:0002863	Myelodysplasia	6155	RPL27	ORPHA:124
HP:0002863	Myelodysplasia	6154	RPL26	ORPHA:124
HP:0002863	Myelodysplasia	6210	RPS15A	ORPHA:124
HP:0002863	Myelodysplasia	90121	TSR2	ORPHA:124
HP:0002863	Myelodysplasia	6141	RPL18	ORPHA:124
HP:0002863	Myelodysplasia	6235	RPS29	ORPHA:124
HP:0002863	Myelodysplasia	6234	RPS28	ORPHA:124
HP:0002863	Myelodysplasia	51816	ADA2	ORPHA:124
HP:0002863	Myelodysplasia	9184	BUB3	ORPHA:1052
HP:0002863	Myelodysplasia	699	BUB1	ORPHA:1052
HP:0002863	Myelodysplasia	9702	CEP57	ORPHA:1052
HP:0002863	Myelodysplasia	9319	TRIP13	ORPHA:1052
HP:0002863	Myelodysplasia	701	BUB1B	ORPHA:1052
HP:0002863	Myelodysplasia	51428	DDX41	OMIM:616871
HP:0002863	Myelodysplasia	10019	SH2B3	ORPHA:3318
HP:0002863	Myelodysplasia	811	CALR	ORPHA:3318
HP:0002863	Myelodysplasia	4763	NF1	ORPHA:97685
HP:0002863	Myelodysplasia	10456	HAX1	OMIM:610738
HP:0002863	Myelodysplasia	64682	ANAPC1	ORPHA:221008
HP:0002863	Myelodysplasia	2065	ERBB3	OMIM:133180
HP:0002863	Myelodysplasia	150274	HSCB	OMIM:619523
HP:0002863	Myelodysplasia	3313	HSPA9	OMIM:182170
HP:0002863	Myelodysplasia	23451	SF3B1	ORPHA:75564
HP:0002863	Myelodysplasia	2624	GATA2	ORPHA:98827
HP:0002863	Myelodysplasia	6208	RPS14	ORPHA:86841
HP:0002863	Myelodysplasia	54790	TET2	ORPHA:98826
HP:0006731	Follicular thyroid carcinoma	10483	SEC23B	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	5728	PTEN	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	6390	SDHB	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	6392	SDHD	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	6391	SDHC	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	207	AKT1	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	205717	USF3	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	5290	PIK3CA	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	100144748	KLLN	ORPHA:201
HP:0006731	Follicular thyroid carcinoma	2304	FOXE1	ORPHA:319487
HP:0006731	Follicular thyroid carcinoma	3026	HABP2	ORPHA:319487
HP:0006731	Follicular thyroid carcinoma	9562	MINPP1	ORPHA:319487
HP:0006731	Follicular thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0006731	Follicular thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0006731	Follicular thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0006731	Follicular thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0006731	Follicular thyroid carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0006731	Follicular thyroid carcinoma	50940	PDE11A	ORPHA:1359
HP:0006732	Papillary renal cell carcinoma type 2	2271	FH	ORPHA:523
HP:0006733	Acute megakaryocytic leukemia	2623	GATA1	OMIM:190685
HP:0005550	Chronic lymphatic leukemia	5295	PIK3R1	OMIM:616005
HP:0005550	Chronic lymphatic leukemia	171023	ASXL1	ORPHA:98849
HP:0005550	Chronic lymphatic leukemia	54790	TET2	ORPHA:98849
HP:0005550	Chronic lymphatic leukemia	3815	KIT	ORPHA:98849
HP:0005550	Chronic lymphatic leukemia	6427	SRSF2	ORPHA:98849
HP:0005550	Chronic lymphatic leukemia	4210	MEFV	ORPHA:3243
HP:0005550	Chronic lymphatic leukemia	10535	RNASEH2A	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	84153	RNASEH2C	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	25939	SAMHD1	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	79621	RNASEH2B	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	103	ADAR	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	11277	TREX1	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	100147744	RNU7-1	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	134353	LSM11	ORPHA:51
HP:0005550	Chronic lymphatic leukemia	64135	IFIH1	ORPHA:51
HP:0006735	Renal cortical adenoma	79577	CDC73	OMIM:145001
HP:0006737	Extraadrenal pheochromocytoma	7428	VHL	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	7428	VHL	ORPHA:276621
HP:0006737	Extraadrenal pheochromocytoma	1743	DLST	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	5979	RET	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	5979	RET	ORPHA:276621
HP:0006737	Extraadrenal pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	2271	FH	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	55654	TMEM127	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	4763	NF1	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	6391	SDHC	OMIM:605373
HP:0006737	Extraadrenal pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	6392	SDHD	OMIM:168000
HP:0006737	Extraadrenal pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0006737	Extraadrenal pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0006737	Extraadrenal pheochromocytoma	6390	SDHB	OMIM:115310
HP:0006737	Extraadrenal pheochromocytoma	4149	MAX	ORPHA:29072
HP:0006737	Extraadrenal pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0006737	Extraadrenal pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0003006	Neuroblastoma	4763	NF1	OMIM:601321
HP:0003006	Neuroblastoma	7528	YY1	ORPHA:506358
HP:0003006	Neuroblastoma	2239	GPC4	ORPHA:373
HP:0003006	Neuroblastoma	2719	GPC3	ORPHA:373
HP:0003006	Neuroblastoma	6390	SDHB	OMIM:115310
HP:0003006	Neuroblastoma	5590	PRKCZ	ORPHA:1606
HP:0003006	Neuroblastoma	2563	GABRD	ORPHA:1606
HP:0003006	Neuroblastoma	23013	SPEN	ORPHA:1606
HP:0003006	Neuroblastoma	8510	MMP23B	ORPHA:1606
HP:0003006	Neuroblastoma	7798	LUZP1	ORPHA:1606
HP:0003006	Neuroblastoma	6497	SKI	ORPHA:1606
HP:0003006	Neuroblastoma	10630	PDPN	ORPHA:1606
HP:0003006	Neuroblastoma	3339	HSPG2	ORPHA:1606
HP:0003006	Neuroblastoma	10277	UBE4B	ORPHA:1606
HP:0003006	Neuroblastoma	8514	KCNAB2	ORPHA:1606
HP:0003006	Neuroblastoma	473	RERE	ORPHA:1606
HP:0003006	Neuroblastoma	63976	PRDM16	ORPHA:1606
HP:0003006	Neuroblastoma	54897	CASZ1	ORPHA:1606
HP:0003006	Neuroblastoma	4292	MLH1	OMIM:276300
HP:0003006	Neuroblastoma	4292	MLH1	ORPHA:144
HP:0003006	Neuroblastoma	5781	PTPN11	ORPHA:500
HP:0003006	Neuroblastoma	673	BRAF	ORPHA:500
HP:0003006	Neuroblastoma	5894	RAF1	ORPHA:500
HP:0003006	Neuroblastoma	64324	NSD1	ORPHA:821
HP:0003006	Neuroblastoma	29072	SETD2	ORPHA:821
HP:0003006	Neuroblastoma	10297	APC2	ORPHA:821
HP:0003006	Neuroblastoma	861	RUNX1	OMIM:601399
HP:0003006	Neuroblastoma	4072	EPCAM	ORPHA:144
HP:0003006	Neuroblastoma	5395	PMS2	ORPHA:144
HP:0003006	Neuroblastoma	27030	MLH3	ORPHA:144
HP:0003006	Neuroblastoma	22909	FAN1	ORPHA:144
HP:0003006	Neuroblastoma	7048	TGFBR2	ORPHA:144
HP:0003006	Neuroblastoma	3845	KRAS	ORPHA:144
HP:0003006	Neuroblastoma	5290	PIK3CA	ORPHA:144
HP:0003006	Neuroblastoma	2956	MSH6	ORPHA:144
HP:0003006	Neuroblastoma	5378	PMS1	ORPHA:144
HP:0003006	Neuroblastoma	4436	MSH2	ORPHA:144
HP:0003006	Neuroblastoma	64218	SEMA4A	ORPHA:440437
HP:0003006	Neuroblastoma	657	BMPR1A	ORPHA:440437
HP:0003006	Neuroblastoma	6224	RPS20	ORPHA:440437
HP:0003006	Neuroblastoma	79728	PALB2	OMIM:610832
HP:0003006	Neuroblastoma	5979	RET	ORPHA:99803
HP:0003006	Neuroblastoma	429	ASCL1	ORPHA:99803
HP:0003006	Neuroblastoma	23476	BRD4	ORPHA:443167
HP:0003006	Neuroblastoma	256646	NUTM1	ORPHA:443167
HP:0003006	Neuroblastoma	8929	PHOX2B	OMIM:613013
HP:0003006	Neuroblastoma	8929	PHOX2B	ORPHA:661
HP:0003006	Neuroblastoma	8929	PHOX2B	ORPHA:2151
HP:0003006	Neuroblastoma	8929	PHOX2B	OMIM:209880
HP:0003006	Neuroblastoma	1908	EDN3	ORPHA:661
HP:0003006	Neuroblastoma	2668	GDNF	ORPHA:661
HP:0003006	Neuroblastoma	627	BDNF	ORPHA:661
HP:0003006	Neuroblastoma	283446	MYO1H	ORPHA:661
HP:0003006	Neuroblastoma	23095	KIF1B	OMIM:256700
HP:0003006	Neuroblastoma	203068	TUBB	ORPHA:2505
HP:0003006	Neuroblastoma	203068	TUBB	OMIM:156610
HP:0003006	Neuroblastoma	10982	MAPRE2	ORPHA:2505
HP:0006739	Squamous cell carcinoma of the skin	7298	TYMS	OMIM:620040
HP:0006739	Squamous cell carcinoma of the skin	284654	RSPO1	ORPHA:85112
HP:0006739	Squamous cell carcinoma of the skin	147138	TMC8	OMIM:618231
HP:0006739	Squamous cell carcinoma of the skin	1643	DDB2	OMIM:278740
HP:0006739	Squamous cell carcinoma of the skin	3574	IL7	OMIM:618309
HP:0006739	Squamous cell carcinoma of the skin	4000	LMNA	ORPHA:363618
HP:0006739	Squamous cell carcinoma of the skin	2071	ERCC3	OMIM:610651
HP:0006739	Squamous cell carcinoma of the skin	2071	ERCC3	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2068	ERCC2	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2073	ERCC5	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2072	ERCC4	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	56916	SMARCAD1	OMIM:181600
HP:0006739	Squamous cell carcinoma of the skin	26277	TINF2	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	7012	TERC	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	7015	TERT	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	3852	KRT5	ORPHA:79396
HP:0006739	Squamous cell carcinoma of the skin	3861	KRT14	ORPHA:79396
HP:0006739	Squamous cell carcinoma of the skin	7299	TYR	ORPHA:79431
HP:0006739	Squamous cell carcinoma of the skin	7299	TYR	ORPHA:79434
HP:0006739	Squamous cell carcinoma of the skin	4157	MC1R	ORPHA:79432
HP:0006739	Squamous cell carcinoma of the skin	4948	OCA2	ORPHA:79432
HP:0006739	Squamous cell carcinoma of the skin	7508	XPC	OMIM:278720
HP:0006739	Squamous cell carcinoma of the skin	7507	XPA	OMIM:278700
HP:0006740	Transitional cell carcinoma of the bladder	6714	SRC	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	201163	FLCN	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	10395	DLC1	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	11200	CHEK2	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	8313	AXIN2	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5290	PIK3CA	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5290	PIK3CA	OMIM:615108
HP:0006740	Transitional cell carcinoma of the bladder	2033	EP300	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5782	PTPN12	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5320	PLA2G2A	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	6790	AURKA	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	1630	DCC	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	27030	MLH3	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	581	BAX	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	25788	RAD54B	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	595	CCND1	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	699	BUB1	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	701	BUB1B	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	2261	FGFR3	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	2261	FGFR3	OMIM:109800
HP:0006740	Transitional cell carcinoma of the bladder	7097	TLR2	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	4893	NRAS	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	324	APC	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	1499	CTNNB1	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	7157	TP53	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	4163	MCC	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	207	AKT1	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	207	AKT1	OMIM:615109
HP:0006740	Transitional cell carcinoma of the bladder	5157	PDGFRL	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5795	PTPRJ	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	673	BRAF	OMIM:114500
HP:0006740	Transitional cell carcinoma of the bladder	5728	PTEN	OMIM:158350
HP:0006740	Transitional cell carcinoma of the bladder	3845	KRAS	OMIM:109800
HP:0006740	Transitional cell carcinoma of the bladder	5925	RB1	OMIM:109800
HP:0006740	Transitional cell carcinoma of the bladder	3265	HRAS	OMIM:109800
HP:0002664	Neoplasm	4214	MAP3K1	OMIM:613762
HP:0002664	Neoplasm	4214	MAP3K1	ORPHA:251510
HP:0002664	Neoplasm	6736	SRY	ORPHA:1772
HP:0002664	Neoplasm	6736	SRY	ORPHA:251510
HP:0002664	Neoplasm	6736	SRY	OMIM:400044
HP:0002664	Neoplasm	6662	SOX9	ORPHA:251510
HP:0002664	Neoplasm	6845	VAMP7	ORPHA:251510
HP:0002664	Neoplasm	51741	WWOX	ORPHA:251510
HP:0002664	Neoplasm	2516	NR5A1	ORPHA:251510
HP:0002664	Neoplasm	7490	WT1	ORPHA:251510
HP:0002664	Neoplasm	7490	WT1	OMIM:194072
HP:0002664	Neoplasm	7490	WT1	ORPHA:347
HP:0002664	Neoplasm	58524	DMRT3	ORPHA:251510
HP:0002664	Neoplasm	57647	DHX37	ORPHA:251510
HP:0002664	Neoplasm	23414	ZFPM2	ORPHA:251510
HP:0002664	Neoplasm	190	NR0B1	ORPHA:251510
HP:0002664	Neoplasm	2626	GATA4	ORPHA:251510
HP:0002664	Neoplasm	5080	PAX6	OMIM:194072
HP:0002664	Neoplasm	50846	DHH	OMIM:233420
HP:0002664	Neoplasm	50846	DHH	ORPHA:168563
HP:0002664	Neoplasm	6654	SOS1	OMIM:135300
HP:0002664	Neoplasm	6654	SOS1	ORPHA:2024
HP:0002664	Neoplasm	1718	DHCR24	OMIM:602398
HP:0002664	Neoplasm	118429	ANTXR2	OMIM:228600
HP:0002664	Neoplasm	118429	ANTXR2	ORPHA:2028
HP:0002664	Neoplasm	23461	ABCA5	OMIM:135400
HP:0002664	Neoplasm	23461	ABCA5	ORPHA:2026
HP:0002664	Neoplasm	54757	FAM20A	OMIM:204690
HP:0002664	Neoplasm	3756	KCNH1	OMIM:135500
HP:0002664	Neoplasm	3756	KCNH1	ORPHA:3473
HP:0002664	Neoplasm	63916	ELMO2	ORPHA:3019
HP:0002664	Neoplasm	5978	REST	ORPHA:2024
HP:0002664	Neoplasm	5978	REST	OMIM:617626
HP:0002664	Neoplasm	526	ATP6V1B2	ORPHA:3473
HP:0002664	Neoplasm	3782	KCNN3	ORPHA:3473
HP:0002664	Neoplasm	56975	FAM20C	ORPHA:1832
HP:0002664	Neoplasm	9897	WASHC5	ORPHA:7
HP:0002664	Neoplasm	28952	CCDC22	ORPHA:7
HP:0002664	Neoplasm	5500	PPP1CB	OMIM:617506
HP:0002664	Neoplasm	79644	SRD5A3	OMIM:612713
HP:0002664	Neoplasm	246329	STAC3	ORPHA:168572
HP:0002664	Neoplasm	1717	DHCR7	OMIM:270400
HP:0002664	Neoplasm	1717	DHCR7	ORPHA:818
HP:0002664	Neoplasm	80036	TRPM3	OMIM:620224
HP:0002664	Neoplasm	9939	RBM8A	OMIM:274000
HP:0002664	Neoplasm	4558	MT-TF	ORPHA:551
HP:0002664	Neoplasm	4567	MT-TL1	ORPHA:551
HP:0002664	Neoplasm	4549	MT-RNR1	ORPHA:551
HP:0002664	Neoplasm	4574	MT-TS1	ORPHA:551
HP:0002664	Neoplasm	4575	MT-TS2	ORPHA:551
HP:0002664	Neoplasm	4571	MT-TP	ORPHA:551
HP:0002664	Neoplasm	4572	MT-TQ	ORPHA:551
HP:0002664	Neoplasm	4540	MT-ND5	ORPHA:551
HP:0002664	Neoplasm	4566	MT-TK	ORPHA:551
HP:0002664	Neoplasm	4566	MT-TK	ORPHA:1349
HP:0002664	Neoplasm	4564	MT-TH	ORPHA:551
HP:0002664	Neoplasm	55154	MSTO1	OMIM:617675
HP:0002664	Neoplasm	9927	MFN2	ORPHA:2398
HP:0002664	Neoplasm	57216	VANGL2	OMIM:182940
HP:0002664	Neoplasm	6347	CCL2	OMIM:182940
HP:0002664	Neoplasm	81839	VANGL1	OMIM:182940
HP:0002664	Neoplasm	6862	TBXT	OMIM:182940
HP:0002664	Neoplasm	80199	FUZ	OMIM:182940
HP:0002664	Neoplasm	284252	KCTD1	OMIM:181270
HP:0002664	Neoplasm	1175	AP2S1	OMIM:600740
HP:0002664	Neoplasm	5167	ENPP1	ORPHA:758
HP:0002664	Neoplasm	368	ABCC6	ORPHA:758
HP:0002664	Neoplasm	8036	SHOC2	OMIM:607721
HP:0002664	Neoplasm	23013	SPEN	OMIM:619312
HP:0002664	Neoplasm	8367	H4C5	OMIM:619950
HP:0002664	Neoplasm	23135	KDM6B	OMIM:618505
HP:0002664	Neoplasm	284058	KANSL1	ORPHA:363965
HP:0002664	Neoplasm	284058	KANSL1	ORPHA:363958
HP:0002664	Neoplasm	11235	PDCD10	ORPHA:221061
HP:0002664	Neoplasm	83605	CCM2	ORPHA:221061
HP:0002664	Neoplasm	889	KRIT1	ORPHA:221061
HP:0002664	Neoplasm	2324	FLT4	OMIM:153100
HP:0002664	Neoplasm	2050	EPHB4	ORPHA:137667
HP:0002664	Neoplasm	5921	RASA1	ORPHA:137667
HP:0002664	Neoplasm	5476	CTSA	OMIM:256540
HP:0002664	Neoplasm	28514	DLL1	ORPHA:280200
HP:0002664	Neoplasm	2253	FGF8	ORPHA:280200
HP:0002664	Neoplasm	6496	SIX3	ORPHA:280200
HP:0002664	Neoplasm	7050	TGIF1	ORPHA:280200
HP:0002664	Neoplasm	4838	NODAL	ORPHA:280200
HP:0002664	Neoplasm	6469	SHH	ORPHA:280200
HP:0002664	Neoplasm	7546	ZIC2	ORPHA:280200
HP:0002664	Neoplasm	2619	GAS1	ORPHA:280200
HP:0002664	Neoplasm	84976	DISP1	ORPHA:280200
HP:0002664	Neoplasm	2736	GLI2	ORPHA:280200
HP:0002664	Neoplasm	8928	FOXH1	ORPHA:280200
HP:0002664	Neoplasm	5727	PTCH1	ORPHA:280200
HP:0002664	Neoplasm	50937	CDON	ORPHA:280200
HP:0002664	Neoplasm	8813	DPM1	OMIM:608799
HP:0002664	Neoplasm	5745	PTH1R	ORPHA:296
HP:0002664	Neoplasm	57492	ARID1B	OMIM:135900
HP:0002664	Neoplasm	10082	GPC6	OMIM:258315
HP:0002664	Neoplasm	340665	CYP26C1	ORPHA:398189
HP:0002664	Neoplasm	23219	FBXO28	OMIM:619777
HP:0002664	Neoplasm	55109	AGGF1	ORPHA:90308
HP:0002664	Neoplasm	23592	LEMD3	ORPHA:1306
HP:0002664	Neoplasm	10312	TCIRG1	ORPHA:486
HP:0002664	Neoplasm	1991	ELANE	ORPHA:486
HP:0002664	Neoplasm	2672	GFI1	ORPHA:486
HP:0002664	Neoplasm	6729	SRP54	ORPHA:486
HP:0002664	Neoplasm	81570	CLPB	ORPHA:486
HP:0002664	Neoplasm	10943	MSL3	OMIM:301032
HP:0002664	Neoplasm	10815	CPLX1	ORPHA:280
HP:0002664	Neoplasm	10815	CPLX1	OMIM:194190
HP:0002664	Neoplasm	54872	PIGG	ORPHA:280
HP:0002664	Neoplasm	7469	NELFA	ORPHA:280
HP:0002664	Neoplasm	1487	CTBP1	ORPHA:280
HP:0002664	Neoplasm	1487	CTBP1	OMIM:194190
HP:0002664	Neoplasm	3954	LETM1	ORPHA:280
HP:0002664	Neoplasm	3954	LETM1	OMIM:194190
HP:0002664	Neoplasm	7468	NSD2	ORPHA:280
HP:0002664	Neoplasm	7468	NSD2	OMIM:194190
HP:0002664	Neoplasm	2475	MTOR	ORPHA:457485
HP:0002664	Neoplasm	7020	TFAP2A	ORPHA:1297
HP:0002664	Neoplasm	84168	ANTXR1	ORPHA:2067
HP:0002664	Neoplasm	53834	FGFRL1	OMIM:194190
HP:0002664	Neoplasm	2260	FGFR1	OMIM:613001
HP:0002664	Neoplasm	2658	GDF2	ORPHA:774
HP:0002664	Neoplasm	94	ACVRL1	ORPHA:774
HP:0002664	Neoplasm	2022	ENG	ORPHA:774
HP:0002664	Neoplasm	10483	SEC23B	ORPHA:201
HP:0002664	Neoplasm	205717	USF3	ORPHA:201
HP:0002664	Neoplasm	100144748	KLLN	ORPHA:201
HP:0002664	Neoplasm	3265	HRAS	ORPHA:2612
HP:0002664	Neoplasm	3845	KRAS	ORPHA:2612
HP:0002664	Neoplasm	3845	KRAS	ORPHA:1340
HP:0002664	Neoplasm	7010	TEK	ORPHA:1059
HP:0002664	Neoplasm	4851	NOTCH1	OMIM:616028
HP:0002664	Neoplasm	5604	MAP2K1	ORPHA:1340
HP:0002664	Neoplasm	5605	MAP2K2	ORPHA:1340
HP:0002664	Neoplasm	79158	GNPTAB	OMIM:252500
HP:0002664	Neoplasm	55901	THSD1	OMIM:620244
HP:0002664	Neoplasm	274	BIN1	ORPHA:169189
HP:0002664	Neoplasm	64419	MTMR14	ORPHA:169189
HP:0002664	Neoplasm	4618	MYF6	ORPHA:169189
HP:0002664	Neoplasm	1785	DNM2	ORPHA:169189
HP:0002664	Neoplasm	6261	RYR1	ORPHA:169189
HP:0002664	Neoplasm	3239	HOXD13	ORPHA:887
HP:0002664	Neoplasm	3417	IDH1	ORPHA:99646
HP:0002664	Neoplasm	6711	SPTBN1	OMIM:619475
HP:0002664	Neoplasm	161742	SPRED1	OMIM:611431
HP:0002664	Neoplasm	161742	SPRED1	ORPHA:137605
HP:0002664	Neoplasm	4771	NF2	ORPHA:2495
HP:0002664	Neoplasm	6598	SMARCB1	ORPHA:2495
HP:0002664	Neoplasm	5155	PDGFB	ORPHA:2495
HP:0002664	Neoplasm	84231	TRAF7	ORPHA:2495
HP:0002664	Neoplasm	6608	SMO	ORPHA:2495
HP:0002664	Neoplasm	51684	SUFU	ORPHA:2495
HP:0002664	Neoplasm	6605	SMARCE1	ORPHA:2495
HP:0002664	Neoplasm	4035	LRP1	ORPHA:79100
HP:0002664	Neoplasm	2535	FZD2	OMIM:164745
HP:0002664	Neoplasm	22800	RRAS2	OMIM:618624
HP:0002664	Neoplasm	6909	TBX2	OMIM:618223
HP:0002664	Neoplasm	5265	SERPINA1	OMIM:613490
HP:0002664	Neoplasm	3043	HBB	ORPHA:231214
HP:0002664	Neoplasm	3043	HBB	ORPHA:231222
HP:0002664	Neoplasm	3043	HBB	ORPHA:231226
HP:0002664	Neoplasm	83932	SPRTN	OMIM:616200
HP:0002664	Neoplasm	9414	TJP2	OMIM:615878
HP:0002664	Neoplasm	2153	F5	OMIM:600880
HP:0002664	Neoplasm	3594	IL12RB1	ORPHA:186
HP:0002664	Neoplasm	23534	TNPO3	ORPHA:186
HP:0002664	Neoplasm	3592	IL12A	ORPHA:186
HP:0002664	Neoplasm	6689	SPIB	ORPHA:186
HP:0002664	Neoplasm	5450	POU2AF1	ORPHA:186
HP:0002664	Neoplasm	9966	TNFSF15	ORPHA:186
HP:0002664	Neoplasm	79258	MMEL1	ORPHA:186
HP:0002664	Neoplasm	3663	IRF5	ORPHA:186
HP:0002664	Neoplasm	6514	SLC2A2	ORPHA:2088
HP:0002664	Neoplasm	3145	HMBS	OMIM:176000
HP:0002664	Neoplasm	3145	HMBS	ORPHA:79276
HP:0002664	Neoplasm	540	ATP7B	OMIM:277900
HP:0002664	Neoplasm	10165	SLC25A13	OMIM:603471
HP:0002664	Neoplasm	10165	SLC25A13	ORPHA:247585
HP:0002664	Neoplasm	8647	ABCB11	OMIM:601847
HP:0002664	Neoplasm	2538	G6PC1	OMIM:232200
HP:0002664	Neoplasm	4358	MPV17	OMIM:256810
HP:0002664	Neoplasm	654	BMP6	ORPHA:465508
HP:0002664	Neoplasm	3077	HFE	ORPHA:465508
HP:0002664	Neoplasm	3077	HFE	OMIM:176100
HP:0002664	Neoplasm	3077	HFE	OMIM:235200
HP:0002664	Neoplasm	2184	FAH	OMIM:276700
HP:0002664	Neoplasm	2184	FAH	ORPHA:882
HP:0002664	Neoplasm	5836	PYGL	ORPHA:369
HP:0002664	Neoplasm	191	AHCY	ORPHA:88618
HP:0002664	Neoplasm	8312	AXIN1	OMIM:114550
HP:0002664	Neoplasm	3482	IGF2R	OMIM:114550
HP:0002664	Neoplasm	55340	GIMAP5	OMIM:619463
HP:0002664	Neoplasm	7289	TULP3	OMIM:619902
HP:0002664	Neoplasm	1371	CPOX	ORPHA:79273
HP:0002664	Neoplasm	7389	UROD	OMIM:176100
HP:0002664	Neoplasm	5498	PPOX	ORPHA:79473
HP:0002664	Neoplasm	650	BMP2	OMIM:235200
HP:0002664	Neoplasm	2177	FANCD2	OMIM:227646
HP:0002664	Neoplasm	2176	FANCC	OMIM:227645
HP:0002664	Neoplasm	2189	FANCG	OMIM:614082
HP:0002664	Neoplasm	8294	H4C9	OMIM:619951
HP:0002664	Neoplasm	6335	SCN9A	ORPHA:90026
HP:0002664	Neoplasm	11280	SCN11A	ORPHA:90026
HP:0002664	Neoplasm	6336	SCN10A	ORPHA:90026
HP:0002664	Neoplasm	9401	RECQL4	ORPHA:221016
HP:0002664	Neoplasm	2178	FANCE	OMIM:600901
HP:0002664	Neoplasm	2175	FANCA	OMIM:227650
HP:0002664	Neoplasm	3832	KIF11	ORPHA:2526
HP:0002664	Neoplasm	134218	DNAJC21	ORPHA:811
HP:0002664	Neoplasm	79631	EFL1	ORPHA:811
HP:0002664	Neoplasm	51119	SBDS	ORPHA:811
HP:0002664	Neoplasm	64682	ANAPC1	ORPHA:221008
HP:0002664	Neoplasm	63895	PIEZO2	OMIM:248700
HP:0002664	Neoplasm	7528	YY1	ORPHA:97279
HP:0002664	Neoplasm	8481	OFD1	OMIM:311200
HP:0002664	Neoplasm	8481	OFD1	ORPHA:2754
HP:0002664	Neoplasm	64601	VPS16	OMIM:619291
HP:0002664	Neoplasm	4990	SIX6	OMIM:206900
HP:0002664	Neoplasm	6657	SOX2	OMIM:206900
HP:0002664	Neoplasm	4123	MAN2C1	OMIM:619775
HP:0002664	Neoplasm	65250	CPLANE1	OMIM:277170
HP:0002664	Neoplasm	65250	CPLANE1	ORPHA:2754
HP:0002664	Neoplasm	7074	TIAM1	OMIM:619908
HP:0002664	Neoplasm	10210	TOPORS	ORPHA:2754
HP:0002664	Neoplasm	9851	KIAA0753	ORPHA:2754
HP:0002664	Neoplasm	26123	TCTN3	ORPHA:2754
HP:0002664	Neoplasm	5147	PDE6D	ORPHA:2754
HP:0002664	Neoplasm	51259	TMEM216	ORPHA:2754
HP:0002664	Neoplasm	317662	FAM149B1	ORPHA:2754
HP:0002664	Neoplasm	374654	KIF7	ORPHA:2754
HP:0002664	Neoplasm	5566	PRKACA	ORPHA:289
HP:0002664	Neoplasm	5567	PRKACB	ORPHA:289
HP:0002664	Neoplasm	2735	GLI1	ORPHA:289
HP:0002664	Neoplasm	2121	EVC	ORPHA:289
HP:0002664	Neoplasm	51626	DYNC2LI1	ORPHA:289
HP:0002664	Neoplasm	132884	EVC2	ORPHA:289
HP:0002664	Neoplasm	546	ATRX	ORPHA:231401
HP:0002664	Neoplasm	10019	SH2B3	ORPHA:3318
HP:0002664	Neoplasm	811	CALR	ORPHA:3318
HP:0002664	Neoplasm	4352	MPL	ORPHA:3318
HP:0002664	Neoplasm	4352	MPL	ORPHA:729
HP:0002664	Neoplasm	3717	JAK2	ORPHA:3318
HP:0002664	Neoplasm	3717	JAK2	ORPHA:729
HP:0002664	Neoplasm	54790	TET2	ORPHA:3318
HP:0002664	Neoplasm	54790	TET2	ORPHA:729
HP:0002664	Neoplasm	412	STS	ORPHA:281090
HP:0002664	Neoplasm	7454	WAS	ORPHA:906
HP:0002664	Neoplasm	7456	WIPF1	ORPHA:906
HP:0002664	Neoplasm	7518	XRCC4	ORPHA:99812
HP:0002664	Neoplasm	3981	LIG4	ORPHA:99812
HP:0002664	Neoplasm	7305	TYROBP	ORPHA:2770
HP:0002664	Neoplasm	54209	TREM2	ORPHA:2770
HP:0002664	Neoplasm	9487	PIGL	ORPHA:3474
HP:0002664	Neoplasm	2624	GATA2	ORPHA:3226
HP:0002664	Neoplasm	1399	CRKL	ORPHA:261330
HP:0002664	Neoplasm	5594	MAPK1	ORPHA:261330
HP:0002664	Neoplasm	10459	MAD2L2	ORPHA:84
HP:0002664	Neoplasm	7516	XRCC2	ORPHA:84
HP:0002664	Neoplasm	29089	UBE2T	ORPHA:84
HP:0002664	Neoplasm	55120	FANCL	ORPHA:84
HP:0002664	Neoplasm	2187	FANCB	ORPHA:84
HP:0002664	Neoplasm	2188	FANCF	ORPHA:84
HP:0002664	Neoplasm	55159	RFWD3	ORPHA:84
HP:0002664	Neoplasm	57697	FANCM	ORPHA:84
HP:0002664	Neoplasm	84464	SLX4	ORPHA:84
HP:0002664	Neoplasm	55215	FANCI	ORPHA:84
HP:0002664	Neoplasm	1565	CYP2D6	OMIM:608902
HP:0002664	Neoplasm	7046	TGFBR1	OMIM:132800
HP:0002664	Neoplasm	8239	USP9X	ORPHA:480880
HP:0002664	Neoplasm	79092	CARD14	ORPHA:2897
HP:0002664	Neoplasm	695	BTK	ORPHA:47
HP:0002664	Neoplasm	8643	PTCH2	ORPHA:377
HP:0002664	Neoplasm	590	BCHE	ORPHA:132
HP:0002664	Neoplasm	51750	RTEL1	ORPHA:3322
HP:0002664	Neoplasm	51750	RTEL1	ORPHA:1775
HP:0002664	Neoplasm	5073	PARN	ORPHA:3322
HP:0002664	Neoplasm	5073	PARN	ORPHA:1775
HP:0002664	Neoplasm	1540	CYLD	OMIM:605041
HP:0002664	Neoplasm	4860	PNP	ORPHA:760
HP:0002664	Neoplasm	5111	PCNA	ORPHA:438134
HP:0002664	Neoplasm	80169	CTC1	ORPHA:1775
HP:0002664	Neoplasm	55651	NHP2	ORPHA:1775
HP:0002664	Neoplasm	79650	USB1	ORPHA:1775
HP:0002664	Neoplasm	4869	NPM1	ORPHA:1775
HP:0002664	Neoplasm	55505	NOP10	ORPHA:1775
HP:0002664	Neoplasm	5551	PRF1	OMIM:605027
HP:0002664	Neoplasm	55636	CHD7	ORPHA:39041
HP:0002664	Neoplasm	5896	RAG1	ORPHA:39041
HP:0002664	Neoplasm	5897	RAG2	ORPHA:39041
HP:0002664	Neoplasm	3575	IL7R	ORPHA:39041
HP:0002664	Neoplasm	1776	DNASE1L3	ORPHA:36412
HP:0002664	Neoplasm	596	BCL2	ORPHA:545
HP:0002664	Neoplasm	3123	HLA-DRB1	ORPHA:545
HP:0002664	Neoplasm	604	BCL6	ORPHA:545
HP:0002664	Neoplasm	3117	HLA-DQA1	OMIM:212750
HP:0002664	Neoplasm	3119	HLA-DQB1	OMIM:212750
HP:0002664	Neoplasm	3514	IGKC	ORPHA:183675
HP:0002664	Neoplasm	3501	IGHG2	ORPHA:183675
HP:0002664	Neoplasm	51428	DDX41	OMIM:616871
HP:0002664	Neoplasm	8626	TP63	ORPHA:1896
HP:0002664	Neoplasm	9158	FIBP	ORPHA:500095
HP:0002664	Neoplasm	9158	FIBP	OMIM:617107
HP:0002664	Neoplasm	9759	HDAC4	ORPHA:1001
HP:0002664	Neoplasm	4591	TRIM37	OMIM:253250
HP:0002664	Neoplasm	55027	HEATR3	OMIM:620072
HP:0002664	Neoplasm	8878	SQSTM1	OMIM:167250
HP:0002664	Neoplasm	6023	RMRP	OMIM:250250
HP:0002664	Neoplasm	4488	MSX2	ORPHA:60015
HP:0002664	Neoplasm	8665	EIF3F	OMIM:618295
HP:0002664	Neoplasm	4330	MN1	OMIM:607174
HP:0002664	Neoplasm	3621	ING1	OMIM:275355
HP:0002664	Neoplasm	8795	TNFRSF10B	OMIM:275355
HP:0002664	Neoplasm	3909	LAMA3	ORPHA:79404
HP:0002664	Neoplasm	3918	LAMC2	ORPHA:79404
HP:0002664	Neoplasm	3914	LAMB3	ORPHA:79404
HP:0002664	Neoplasm	833	CARS1	ORPHA:33364
HP:0002664	Neoplasm	7737	RNF113A	ORPHA:33364
HP:0002664	Neoplasm	136647	MPLKIP	ORPHA:33364
HP:0002664	Neoplasm	6897	TARS1	ORPHA:33364
HP:0002664	Neoplasm	2961	GTF2E2	ORPHA:33364
HP:0002664	Neoplasm	23328	SASH1	OMIM:618373
HP:0002664	Neoplasm	2224	FDPS	ORPHA:79152
HP:0002664	Neoplasm	4597	MVD	ORPHA:79152
HP:0002664	Neoplasm	63910	SLC17A9	ORPHA:79152
HP:0002664	Neoplasm	114803	MYSM1	ORPHA:508542
HP:0002664	Neoplasm	7317	UBA1	OMIM:301054
HP:0002664	Neoplasm	6731	SRP72	OMIM:614675
HP:0002664	Neoplasm	6117	RPA1	OMIM:619767
HP:0002664	Neoplasm	9837	GINS1	OMIM:617827
HP:0002664	Neoplasm	6603	SMARCD2	OMIM:617475
HP:0002664	Neoplasm	162417	NAGS	ORPHA:927
HP:0002664	Neoplasm	23218	NBEAL2	ORPHA:721
HP:0002664	Neoplasm	1441	CSF3R	OMIM:162830
HP:0002664	Neoplasm	9652	SKIC3	ORPHA:84064
HP:0002664	Neoplasm	6499	SKIC2	ORPHA:84064
HP:0002664	Neoplasm	6597	SMARCA4	ORPHA:1465
HP:0002664	Neoplasm	6659	SOX4	ORPHA:1465
HP:0002664	Neoplasm	8289	ARID1A	ORPHA:1465
HP:0002664	Neoplasm	5977	DPF2	ORPHA:1465
HP:0002664	Neoplasm	6601	SMARCC2	ORPHA:1465
HP:0002664	Neoplasm	6602	SMARCD1	ORPHA:1465
HP:0002664	Neoplasm	196528	ARID2	ORPHA:1465
HP:0002664	Neoplasm	6664	SOX11	ORPHA:1465
HP:0002664	Neoplasm	388015	RTL1	ORPHA:96334
HP:0002664	Neoplasm	8788	DLK1	ORPHA:96334
HP:0002664	Neoplasm	55384	MEG3	ORPHA:96334
HP:0002664	Neoplasm	199221	DZIP1L	ORPHA:731
HP:0002664	Neoplasm	5314	PKHD1	ORPHA:731
HP:0002664	Neoplasm	23432	GPR161	OMIM:155255
HP:0002664	Neoplasm	8518	ELP1	OMIM:155255
HP:0002664	Neoplasm	3766	KCNJ10	ORPHA:705
HP:0002664	Neoplasm	3766	KCNJ10	OMIM:274600
HP:0002664	Neoplasm	2299	FOXI1	ORPHA:705
HP:0002664	Neoplasm	2299	FOXI1	OMIM:274600
HP:0002664	Neoplasm	5172	SLC26A4	ORPHA:705
HP:0002664	Neoplasm	5172	SLC26A4	OMIM:274600
HP:0002664	Neoplasm	7038	TG	OMIM:274700
HP:0002664	Neoplasm	64072	CDH23	OMIM:617540
HP:0002664	Neoplasm	9101	USP8	OMIM:219090
HP:0002664	Neoplasm	182	JAG1	OMIM:118450
HP:0002664	Neoplasm	5244	ABCB4	ORPHA:69663
HP:0002664	Neoplasm	56623	INPP5E	ORPHA:1454
HP:0002664	Neoplasm	91147	TMEM67	ORPHA:1454
HP:0002664	Neoplasm	23322	RPGRIP1L	ORPHA:1454
HP:0002664	Neoplasm	57545	CC2D2A	ORPHA:1454
HP:0002664	Neoplasm	846	CASR	OMIM:145980
HP:0002664	Neoplasm	1188	CLCNKB	ORPHA:358
HP:0002664	Neoplasm	6559	SLC12A3	ORPHA:358
HP:0002664	Neoplasm	54894	RNF43	ORPHA:157798
HP:0002664	Neoplasm	388662	SLC6A17	ORPHA:457212
HP:0002664	Neoplasm	4913	NTHL1	ORPHA:454840
HP:0002664	Neoplasm	4913	NTHL1	OMIM:616415
HP:0002664	Neoplasm	5889	RAD51C	OMIM:613399
HP:0002664	Neoplasm	5889	RAD51C	ORPHA:145
HP:0002664	Neoplasm	545	ATR	OMIM:614564
HP:0002664	Neoplasm	999	CDH1	OMIM:167000
HP:0002664	Neoplasm	999	CDH1	OMIM:114480
HP:0002664	Neoplasm	5071	PRKN	OMIM:167000
HP:0002664	Neoplasm	4978	OPCML	OMIM:167000
HP:0002664	Neoplasm	2064	ERBB2	OMIM:167000
HP:0002664	Neoplasm	83990	BRIP1	OMIM:114480
HP:0002664	Neoplasm	83990	BRIP1	ORPHA:145
HP:0002664	Neoplasm	5002	SLC22A18	OMIM:114480
HP:0002664	Neoplasm	4835	NQO2	OMIM:114480
HP:0002664	Neoplasm	5245	PHB1	OMIM:114480
HP:0002664	Neoplasm	3161	HMMR	OMIM:114480
HP:0002664	Neoplasm	580	BARD1	OMIM:114480
HP:0002664	Neoplasm	580	BARD1	ORPHA:145
HP:0002664	Neoplasm	672	BRCA1	OMIM:114480
HP:0002664	Neoplasm	672	BRCA1	OMIM:604370
HP:0002664	Neoplasm	672	BRCA1	ORPHA:145
HP:0002664	Neoplasm	672	BRCA1	OMIM:617883
HP:0002664	Neoplasm	672	BRCA1	ORPHA:1333
HP:0002664	Neoplasm	675	BRCA2	OMIM:114480
HP:0002664	Neoplasm	675	BRCA2	ORPHA:145
HP:0002664	Neoplasm	675	BRCA2	ORPHA:1333
HP:0002664	Neoplasm	675	BRCA2	OMIM:612555
HP:0002664	Neoplasm	8493	PPM1D	OMIM:114480
HP:0002664	Neoplasm	79728	PALB2	OMIM:114480
HP:0002664	Neoplasm	79728	PALB2	ORPHA:145
HP:0002664	Neoplasm	79728	PALB2	ORPHA:1333
HP:0002664	Neoplasm	5888	RAD51	OMIM:114480
HP:0002664	Neoplasm	5888	RAD51	ORPHA:145
HP:0002664	Neoplasm	7517	XRCC3	OMIM:114480
HP:0002664	Neoplasm	9821	RB1CC1	OMIM:114480
HP:0002664	Neoplasm	2099	ESR1	OMIM:114480
HP:0002664	Neoplasm	841	CASP8	OMIM:114480
HP:0002664	Neoplasm	8438	RAD54L	OMIM:114480
HP:0002664	Neoplasm	4210	MEFV	ORPHA:3243
HP:0002664	Neoplasm	5424	POLD1	ORPHA:447877
HP:0002664	Neoplasm	7486	WRN	ORPHA:902
HP:0002664	Neoplasm	7373	COL14A1	ORPHA:79501
HP:0002664	Neoplasm	79719	AAGAB	ORPHA:79501
HP:0002664	Neoplasm	4193	MDM2	ORPHA:524
HP:0002664	Neoplasm	5892	RAD51D	ORPHA:145
HP:0002664	Neoplasm	10111	RAD50	ORPHA:145
HP:0002664	Neoplasm	4361	MRE11	ORPHA:145
HP:0002664	Neoplasm	2778	GNAS	ORPHA:562
HP:0002664	Neoplasm	285282	RABL3	ORPHA:1333
HP:0002664	Neoplasm	23022	PALLD	ORPHA:1333
HP:0002664	Neoplasm	7291	TWIST1	OMIM:101400
HP:0002664	Neoplasm	2263	FGFR2	OMIM:101400
HP:0002664	Neoplasm	3418	IDH2	ORPHA:163634
HP:0002664	Neoplasm	30011	SH3KBP1	OMIM:300310
HP:0002664	Neoplasm	716	C1S	OMIM:617174
HP:0002664	Neoplasm	5378	PMS1	OMIM:120435
HP:0002664	Neoplasm	5378	PMS1	ORPHA:144
HP:0002664	Neoplasm	4092	SMAD7	OMIM:612229
HP:0002664	Neoplasm	4595	MUTYH	OMIM:608456
HP:0002664	Neoplasm	6223	RPS19	OMIM:105650
HP:0002664	Neoplasm	4072	EPCAM	ORPHA:144
HP:0002664	Neoplasm	4072	EPCAM	OMIM:613244
HP:0002664	Neoplasm	5395	PMS2	ORPHA:144
HP:0002664	Neoplasm	5395	PMS2	OMIM:619101
HP:0002664	Neoplasm	22909	FAN1	ORPHA:144
HP:0002664	Neoplasm	7048	TGFBR2	ORPHA:144
HP:0002664	Neoplasm	9184	BUB3	ORPHA:1052
HP:0002664	Neoplasm	9702	CEP57	ORPHA:1052
HP:0002664	Neoplasm	9319	TRIP13	ORPHA:1052
HP:0002664	Neoplasm	2304	FOXE1	ORPHA:319487
HP:0002664	Neoplasm	3026	HABP2	ORPHA:319487
HP:0002664	Neoplasm	9562	MINPP1	ORPHA:319487
HP:0002664	Neoplasm	4437	MSH3	ORPHA:480536
HP:0002664	Neoplasm	429	ASCL1	ORPHA:99803
HP:0002664	Neoplasm	2239	GPC4	ORPHA:373
HP:0002664	Neoplasm	5590	PRKCZ	ORPHA:1606
HP:0002664	Neoplasm	2563	GABRD	ORPHA:1606
HP:0002664	Neoplasm	8510	MMP23B	ORPHA:1606
HP:0002664	Neoplasm	7798	LUZP1	ORPHA:1606
HP:0002664	Neoplasm	6497	SKI	ORPHA:1606
HP:0002664	Neoplasm	10630	PDPN	ORPHA:1606
HP:0002664	Neoplasm	10277	UBE4B	ORPHA:1606
HP:0002664	Neoplasm	8514	KCNAB2	ORPHA:1606
HP:0002664	Neoplasm	473	RERE	ORPHA:1606
HP:0002664	Neoplasm	63976	PRDM16	ORPHA:1606
HP:0002664	Neoplasm	54897	CASZ1	ORPHA:1606
HP:0002664	Neoplasm	5894	RAF1	ORPHA:500
HP:0002664	Neoplasm	4613	MYCN	ORPHA:635
HP:0002664	Neoplasm	7153	TOP2A	ORPHA:635
HP:0002664	Neoplasm	238	ALK	ORPHA:635
HP:0002664	Neoplasm	389421	LIN28B	ORPHA:635
HP:0002664	Neoplasm	4004	LMO1	ORPHA:635
HP:0002664	Neoplasm	57531	HACE1	ORPHA:635
HP:0002664	Neoplasm	79944	L2HGDH	ORPHA:79314
HP:0002664	Neoplasm	171023	ASXL1	ORPHA:98850
HP:0002664	Neoplasm	171023	ASXL1	ORPHA:98849
HP:0002664	Neoplasm	867	CBL	ORPHA:98850
HP:0002664	Neoplasm	861	RUNX1	ORPHA:98850
HP:0002664	Neoplasm	6427	SRSF2	ORPHA:98850
HP:0002664	Neoplasm	6427	SRSF2	ORPHA:98849
HP:0002664	Neoplasm	11277	TREX1	OMIM:225750
HP:0002664	Neoplasm	1146	CHRNG	OMIM:265000
HP:0002664	Neoplasm	10526	IPO8	OMIM:619472
HP:0002664	Neoplasm	1836	SLC26A2	ORPHA:56304
HP:0002664	Neoplasm	128	ADH5	OMIM:619151
HP:0002664	Neoplasm	26511	CHIC2	OMIM:601626
HP:0002664	Neoplasm	1050	CEBPA	OMIM:601626
HP:0002664	Neoplasm	6455	SH3GL1	OMIM:601626
HP:0002664	Neoplasm	8028	MLLT10	OMIM:601626
HP:0002664	Neoplasm	8301	PICALM	OMIM:601626
HP:0002664	Neoplasm	4026	LPP	OMIM:601626
HP:0002664	Neoplasm	54809	SAMD9	OMIM:619041
HP:0002664	Neoplasm	2120	ETV6	OMIM:616216
HP:0002664	Neoplasm	219285	SAMD9L	OMIM:159550
HP:0002664	Neoplasm	219285	SAMD9L	ORPHA:2585
HP:0002664	Neoplasm	150274	HSCB	OMIM:619523
HP:0002664	Neoplasm	3313	HSPA9	OMIM:182170
HP:0002664	Neoplasm	4926	NUMA1	OMIM:612376
HP:0002664	Neoplasm	5914	RARA	OMIM:612376
HP:0002664	Neoplasm	6609	SMPD1	ORPHA:77293
HP:0002664	Neoplasm	2137	EXTL3	ORPHA:508533
HP:0002664	Neoplasm	9653	HS2ST1	OMIM:619194
HP:0002664	Neoplasm	10484	SEC23A	ORPHA:50814
HP:0002664	Neoplasm	10484	SEC23A	OMIM:607812
HP:0002664	Neoplasm	1857	DVL3	ORPHA:3107
HP:0002664	Neoplasm	7474	WNT5A	ORPHA:3107
HP:0002664	Neoplasm	1855	DVL1	ORPHA:3107
HP:0002664	Neoplasm	57465	TBC1D24	ORPHA:79500
HP:0002664	Neoplasm	22827	PUF60	ORPHA:508488
HP:0002664	Neoplasm	3791	KDR	OMIM:602089
HP:0002664	Neoplasm	151188	ARL6IP6	ORPHA:1556
HP:0002664	Neoplasm	7066	THPO	ORPHA:71493
HP:0002664	Neoplasm	25	ABL1	OMIM:608232
HP:0002664	Neoplasm	613	BCR	OMIM:608232
HP:0002664	Neoplasm	4615	MYD88	ORPHA:33226
HP:0002664	Neoplasm	4615	MYD88	OMIM:153600
HP:0002664	Neoplasm	3561	IL2RG	ORPHA:276
HP:0002664	Neoplasm	50485	SMARCAL1	ORPHA:1830
HP:0002664	Neoplasm	51816	ADA2	OMIM:615688
HP:0002664	Neoplasm	1503	CTPS1	OMIM:615897
HP:0002664	Neoplasm	987	LRBA	OMIM:614700
HP:0002664	Neoplasm	7535	ZAP70	ORPHA:911
HP:0002664	Neoplasm	4173	MCM4	OMIM:609981
HP:0002664	Neoplasm	210	ALAD	ORPHA:100924
HP:0002664	Neoplasm	10535	RNASEH2A	ORPHA:51
HP:0002664	Neoplasm	84153	RNASEH2C	ORPHA:51
HP:0002664	Neoplasm	25939	SAMHD1	ORPHA:51
HP:0002664	Neoplasm	79621	RNASEH2B	ORPHA:51
HP:0002664	Neoplasm	103	ADAR	ORPHA:51
HP:0002664	Neoplasm	100147744	RNU7-1	ORPHA:51
HP:0002664	Neoplasm	134353	LSM11	ORPHA:51
HP:0002664	Neoplasm	64135	IFIH1	ORPHA:51
HP:0002664	Neoplasm	7030	TFE3	OMIM:300854
HP:0002664	Neoplasm	79798	ARMC5	ORPHA:189427
HP:0002664	Neoplasm	4968	OGG1	OMIM:144700
HP:0002664	Neoplasm	11236	RNF139	OMIM:144700
HP:0002664	Neoplasm	55193	PBRM1	OMIM:144700
HP:0002664	Neoplasm	5781	PTPN11	OMIM:156250
HP:0002664	Neoplasm	84172	POLR1B	ORPHA:861
HP:0002664	Neoplasm	9533	POLR1C	ORPHA:861
HP:0002664	Neoplasm	51082	POLR1D	ORPHA:861
HP:0002664	Neoplasm	6949	TCOF1	ORPHA:861
HP:0002664	Neoplasm	440275	EIF2AK4	OMIM:234810
HP:0002664	Neoplasm	440275	EIF2AK4	ORPHA:199241
HP:0002664	Neoplasm	6440	SFTPC	OMIM:178500
HP:0002664	Neoplasm	727897	MUC5B	OMIM:178500
HP:0002664	Neoplasm	729238	SFTPA2	OMIM:178500
HP:0002664	Neoplasm	2074	ERCC6	OMIM:211980
HP:0002664	Neoplasm	1956	EGFR	OMIM:211980
HP:0002664	Neoplasm	1548	CYP2A6	OMIM:211980
HP:0002664	Neoplasm	5519	PPP2R1B	OMIM:211980
HP:0002664	Neoplasm	1326	MAP3K8	OMIM:211980
HP:0002664	Neoplasm	54888	NSUN2	ORPHA:235
HP:0002664	Neoplasm	641	BLM	ORPHA:125
HP:0002664	Neoplasm	2322	FLT3	OMIM:613065
HP:0002664	Neoplasm	2782	GNB1	OMIM:613065
HP:0002664	Neoplasm	8021	NUP214	OMIM:613065
HP:0002664	Neoplasm	6886	TAL1	OMIM:613065
HP:0002664	Neoplasm	6887	TAL2	OMIM:613065
HP:0002664	Neoplasm	10320	IKZF1	OMIM:616873
HP:0002664	Neoplasm	10456	HAX1	OMIM:610738
HP:0002664	Neoplasm	11330	CTRC	ORPHA:103918
HP:0002664	Neoplasm	6690	SPINK1	ORPHA:103918
HP:0002664	Neoplasm	64218	SEMA4A	ORPHA:440437
HP:0002664	Neoplasm	6224	RPS20	ORPHA:440437
HP:0002664	Neoplasm	1854	DUT	OMIM:620044
HP:0002664	Neoplasm	57522	SRGAP1	OMIM:188470
HP:0002664	Neoplasm	2623	GATA1	OMIM:190685
HP:0002664	Neoplasm	79577	CDC73	OMIM:145001
HP:0002664	Neoplasm	7298	TYMS	OMIM:620040
HP:0002664	Neoplasm	147138	TMC8	OMIM:618231
HP:0002664	Neoplasm	1643	DDB2	OMIM:278740
HP:0002664	Neoplasm	3574	IL7	OMIM:618309
HP:0002664	Neoplasm	4000	LMNA	ORPHA:363618
HP:0002664	Neoplasm	2071	ERCC3	OMIM:610651
HP:0002664	Neoplasm	2071	ERCC3	ORPHA:220295
HP:0002664	Neoplasm	2068	ERCC2	ORPHA:220295
HP:0002664	Neoplasm	2073	ERCC5	ORPHA:220295
HP:0002664	Neoplasm	2072	ERCC4	ORPHA:220295
HP:0002664	Neoplasm	56916	SMARCAD1	OMIM:181600
HP:0002664	Neoplasm	26277	TINF2	OMIM:127550
HP:0002664	Neoplasm	7012	TERC	OMIM:127550
HP:0002664	Neoplasm	3852	KRT5	ORPHA:79396
HP:0002664	Neoplasm	3861	KRT14	ORPHA:79396
HP:0002664	Neoplasm	7299	TYR	ORPHA:79431
HP:0002664	Neoplasm	7299	TYR	ORPHA:79434
HP:0002664	Neoplasm	4948	OCA2	ORPHA:79432
HP:0002664	Neoplasm	7508	XPC	OMIM:278720
HP:0002664	Neoplasm	7507	XPA	OMIM:278700
HP:0002664	Neoplasm	5925	RB1	OMIM:109800
HP:0002664	Neoplasm	1028	CDKN1C	OMIM:130650
HP:0002664	Neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0002664	Neoplasm	3481	IGF2	OMIM:130650
HP:0002664	Neoplasm	3784	KCNQ1	OMIM:130650
HP:0002664	Neoplasm	84133	ZNRF3	ORPHA:1501
HP:0002664	Neoplasm	8929	PHOX2B	OMIM:613013
HP:0002664	Neoplasm	8929	PHOX2B	ORPHA:661
HP:0002664	Neoplasm	8929	PHOX2B	ORPHA:2151
HP:0002664	Neoplasm	8929	PHOX2B	OMIM:209880
HP:0002664	Neoplasm	1908	EDN3	ORPHA:661
HP:0002664	Neoplasm	2668	GDNF	ORPHA:661
HP:0002664	Neoplasm	627	BDNF	ORPHA:661
HP:0002664	Neoplasm	283446	MYO1H	ORPHA:661
HP:0002664	Neoplasm	23095	KIF1B	OMIM:256700
HP:0002664	Neoplasm	7428	VHL	ORPHA:892
HP:0002664	Neoplasm	7428	VHL	ORPHA:29072
HP:0002664	Neoplasm	7428	VHL	ORPHA:276621
HP:0002664	Neoplasm	595	CCND1	ORPHA:892
HP:0002664	Neoplasm	1743	DLST	ORPHA:29072
HP:0002664	Neoplasm	4191	MDH2	ORPHA:29072
HP:0002664	Neoplasm	5979	RET	ORPHA:29072
HP:0002664	Neoplasm	5979	RET	ORPHA:276621
HP:0002664	Neoplasm	6389	SDHA	ORPHA:29072
HP:0002664	Neoplasm	2271	FH	ORPHA:29072
HP:0002664	Neoplasm	8402	SLC25A11	ORPHA:29072
HP:0002664	Neoplasm	54949	SDHAF2	ORPHA:29072
HP:0002664	Neoplasm	55654	TMEM127	ORPHA:29072
HP:0002664	Neoplasm	4763	NF1	ORPHA:29072
HP:0002664	Neoplasm	6391	SDHC	ORPHA:29072
HP:0002664	Neoplasm	6391	SDHC	OMIM:605373
HP:0002664	Neoplasm	6392	SDHD	ORPHA:29072
HP:0002664	Neoplasm	6392	SDHD	OMIM:168000
HP:0002664	Neoplasm	6392	SDHD	ORPHA:276621
HP:0002664	Neoplasm	6390	SDHB	ORPHA:29072
HP:0002664	Neoplasm	6390	SDHB	ORPHA:276621
HP:0002664	Neoplasm	6390	SDHB	OMIM:115310
HP:0002664	Neoplasm	4149	MAX	ORPHA:29072
HP:0002664	Neoplasm	1788	DNMT3A	ORPHA:276621
HP:0002664	Neoplasm	2034	EPAS1	ORPHA:276621
HP:0002664	Neoplasm	4436	MSH2	ORPHA:587
HP:0002664	Neoplasm	6714	SRC	OMIM:114500
HP:0002664	Neoplasm	201163	FLCN	OMIM:114500
HP:0002664	Neoplasm	10395	DLC1	OMIM:114500
HP:0002664	Neoplasm	11200	CHEK2	OMIM:114500
HP:0002664	Neoplasm	8313	AXIN2	OMIM:114500
HP:0002664	Neoplasm	5290	PIK3CA	OMIM:114500
HP:0002664	Neoplasm	2033	EP300	OMIM:114500
HP:0002664	Neoplasm	5782	PTPN12	OMIM:114500
HP:0002664	Neoplasm	5320	PLA2G2A	OMIM:114500
HP:0002664	Neoplasm	6790	AURKA	OMIM:114500
HP:0002664	Neoplasm	1630	DCC	OMIM:114500
HP:0002664	Neoplasm	27030	MLH3	OMIM:114500
HP:0002664	Neoplasm	581	BAX	OMIM:114500
HP:0002664	Neoplasm	25788	RAD54B	OMIM:114500
HP:0002664	Neoplasm	699	BUB1	OMIM:114500
HP:0002664	Neoplasm	701	BUB1B	OMIM:114500
HP:0002664	Neoplasm	2261	FGFR3	OMIM:114500
HP:0002664	Neoplasm	7097	TLR2	OMIM:114500
HP:0002664	Neoplasm	4893	NRAS	OMIM:114500
HP:0002664	Neoplasm	1499	CTNNB1	OMIM:114500
HP:0002664	Neoplasm	7157	TP53	OMIM:114500
HP:0002664	Neoplasm	4163	MCC	OMIM:114500
HP:0002664	Neoplasm	207	AKT1	OMIM:114500
HP:0002664	Neoplasm	5157	PDGFRL	OMIM:114500
HP:0002664	Neoplasm	5795	PTPRJ	OMIM:114500
HP:0002664	Neoplasm	4286	MITF	ORPHA:618
HP:0002664	Neoplasm	1019	CDK4	ORPHA:618
HP:0002664	Neoplasm	4255	MGMT	ORPHA:618
HP:0002664	Neoplasm	54386	TERF2IP	ORPHA:618
HP:0002664	Neoplasm	4157	MC1R	ORPHA:618
HP:0002664	Neoplasm	65057	ACD	ORPHA:618
HP:0002664	Neoplasm	1029	CDKN2A	ORPHA:618
HP:0002664	Neoplasm	7015	TERT	ORPHA:618
HP:0002664	Neoplasm	25913	POT1	ORPHA:618
HP:0002664	Neoplasm	4089	SMAD4	OMIM:174900
HP:0002664	Neoplasm	5156	PDGFRA	ORPHA:44890
HP:0002664	Neoplasm	3815	KIT	ORPHA:44890
HP:0002664	Neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0002664	Neoplasm	50940	PDE11A	ORPHA:1359
HP:0002664	Neoplasm	1287	COL4A5	OMIM:301050
HP:0002664	Neoplasm	1287	COL4A5	ORPHA:1018
HP:0002664	Neoplasm	1288	COL4A6	ORPHA:1018
HP:0002664	Neoplasm	6135	RPL11	ORPHA:124
HP:0002664	Neoplasm	6138	RPL15	ORPHA:124
HP:0002664	Neoplasm	6229	RPS24	ORPHA:124
HP:0002664	Neoplasm	6125	RPL5	ORPHA:124
HP:0002664	Neoplasm	6204	RPS10	ORPHA:124
HP:0002664	Neoplasm	6165	RPL35A	ORPHA:124
HP:0002664	Neoplasm	6232	RPS27	ORPHA:124
HP:0002664	Neoplasm	6231	RPS26	ORPHA:124
HP:0002664	Neoplasm	11224	RPL35	ORPHA:124
HP:0002664	Neoplasm	6160	RPL31	ORPHA:124
HP:0002664	Neoplasm	6218	RPS17	ORPHA:124
HP:0002664	Neoplasm	6201	RPS7	ORPHA:124
HP:0002664	Neoplasm	6155	RPL27	ORPHA:124
HP:0002664	Neoplasm	6154	RPL26	ORPHA:124
HP:0002664	Neoplasm	6210	RPS15A	ORPHA:124
HP:0002664	Neoplasm	90121	TSR2	ORPHA:124
HP:0002664	Neoplasm	6141	RPL18	ORPHA:124
HP:0002664	Neoplasm	6235	RPS29	ORPHA:124
HP:0002664	Neoplasm	6234	RPS28	ORPHA:124
HP:0002664	Neoplasm	8148	TAF15	OMIM:612237
HP:0002664	Neoplasm	8013	NR4A3	OMIM:612237
HP:0002664	Neoplasm	4233	MET	OMIM:605074
HP:0002664	Neoplasm	5546	PRCC	OMIM:605074
HP:0002664	Neoplasm	9049	AIP	ORPHA:99725
HP:0002664	Neoplasm	9049	AIP	ORPHA:963
HP:0002664	Neoplasm	9049	AIP	OMIM:102200
HP:0002664	Neoplasm	83550	GPR101	ORPHA:963
HP:0002664	Neoplasm	203068	TUBB	ORPHA:2505
HP:0002664	Neoplasm	203068	TUBB	OMIM:156610
HP:0002664	Neoplasm	10982	MAPRE2	ORPHA:2505
HP:0002664	Neoplasm	64127	NOD2	ORPHA:90340
HP:0002664	Neoplasm	4598	MVK	OMIM:260920
HP:0002664	Neoplasm	2629	GBA1	OMIM:230800
HP:0002664	Neoplasm	5081	PAX7	OMIM:268220
HP:0002664	Neoplasm	2308	FOXO1	OMIM:268220
HP:0002664	Neoplasm	5077	PAX3	OMIM:268220
HP:0002664	Neoplasm	9247	GCM2	OMIM:617343
HP:0002664	Neoplasm	57688	ZSWIM6	ORPHA:1827
HP:0002664	Neoplasm	257	ALX3	OMIM:136760
HP:0002664	Neoplasm	257	ALX3	ORPHA:391474
HP:0002664	Neoplasm	8092	ALX1	ORPHA:306542
HP:0002664	Neoplasm	4247	MGAT2	OMIM:212066
HP:0002664	Neoplasm	5447	POR	ORPHA:95699
HP:0002664	Neoplasm	157570	ESCO2	OMIM:268300
HP:0002664	Neoplasm	2737	GLI3	ORPHA:672
HP:0002664	Neoplasm	2737	GLI3	OMIM:146510
HP:0002664	Neoplasm	10225	CD96	ORPHA:1308
HP:0002664	Neoplasm	8314	BAP1	OMIM:614327
HP:0002664	Neoplasm	8314	BAP1	OMIM:606661
HP:0002664	Neoplasm	8930	MBD4	OMIM:619975
HP:0002664	Neoplasm	8930	MBD4	OMIM:606660
HP:0002664	Neoplasm	6794	STK11	OMIM:155600
HP:0002664	Neoplasm	673	BRAF	OMIM:155600
HP:0002664	Neoplasm	9630	GNA14	ORPHA:1063
HP:0002664	Neoplasm	8943	AP3D1	ORPHA:54
HP:0002664	Neoplasm	4935	GPR143	ORPHA:54
HP:0002664	Neoplasm	404672	GTF2H5	OMIM:616395
HP:0002664	Neoplasm	2697	GJA1	ORPHA:317
HP:0002664	Neoplasm	2707	GJB3	ORPHA:317
HP:0002664	Neoplasm	2531	KDSR	ORPHA:317
HP:0002664	Neoplasm	127534	GJB4	ORPHA:317
HP:0002664	Neoplasm	7390	UROS	ORPHA:79277
HP:0002664	Neoplasm	6591	SNAI2	ORPHA:2884
HP:0002664	Neoplasm	51151	SLC45A2	ORPHA:79435
HP:0002664	Neoplasm	1075	CTSC	ORPHA:678
HP:0002664	Neoplasm	6329	SCN4A	ORPHA:681
HP:0002664	Neoplasm	779	CACNA1S	ORPHA:681
HP:0002664	Neoplasm	10008	KCNE3	ORPHA:681
HP:0002664	Neoplasm	84196	USP48	ORPHA:96253
HP:0002664	Neoplasm	2908	NR3C1	ORPHA:96253
HP:0002664	Neoplasm	168667	BMPER	OMIM:608022
HP:0002664	Neoplasm	3735	KARS1	OMIM:613641
HP:0002664	Neoplasm	6928	HNF1B	ORPHA:93111
HP:0002664	Neoplasm	2639	GCDH	ORPHA:25
HP:0002664	Neoplasm	5333	PLCD1	ORPHA:2387
HP:0002664	Neoplasm	126792	B3GALT6	ORPHA:536467
HP:0002664	Neoplasm	4784	NFIX	OMIM:602535
HP:0002664	Neoplasm	9382	COG1	OMIM:611209
HP:0002664	Neoplasm	7080	NKX2-1	OMIM:610978
HP:0002664	Neoplasm	2138	EYA1	OMIM:113650
HP:0002664	Neoplasm	6495	SIX1	OMIM:113650
HP:0002664	Neoplasm	4921	DDR2	OMIM:618175
HP:0002664	Neoplasm	54914	FOCAD	OMIM:619991
HP:0002664	Neoplasm	90	ACVR1	OMIM:135100
HP:0002664	Neoplasm	91754	NEK9	ORPHA:64754
HP:0002664	Neoplasm	60	ACTB	ORPHA:64755
HP:0002664	Neoplasm	3572	IL6ST	OMIM:619750
HP:0002664	Neoplasm	5618	PRLR	OMIM:615554
HP:0002664	Neoplasm	2248	FGF3	ORPHA:2791
HP:0002664	Neoplasm	6049	RNF6	ORPHA:99977
HP:0002664	Neoplasm	6049	RNF6	OMIM:133239
HP:0002664	Neoplasm	9940	DLEC1	ORPHA:99977
HP:0002664	Neoplasm	11178	LZTS1	OMIM:133239
HP:0002664	Neoplasm	4626	MYH8	OMIM:608837
HP:0002664	Neoplasm	1181	CLCN2	ORPHA:404
HP:0002664	Neoplasm	1585	CYP11B2	ORPHA:403
HP:0002664	Neoplasm	51726	DNAJB11	ORPHA:730
HP:0002664	Neoplasm	23193	GANAB	ORPHA:730
HP:0002664	Neoplasm	5310	PKD1	ORPHA:730
HP:0002664	Neoplasm	5311	PKD2	ORPHA:730
HP:0002664	Neoplasm	29880	ALG5	ORPHA:730
HP:0002664	Neoplasm	9742	IFT140	ORPHA:730
HP:0002664	Neoplasm	79796	ALG9	ORPHA:730
HP:0002664	Neoplasm	80114	BICC1	ORPHA:730
HP:0002664	Neoplasm	79659	DYNC2H1	OMIM:613091
HP:0002664	Neoplasm	153241	CEP120	OMIM:616300
HP:0002664	Neoplasm	84314	TMEM107	OMIM:617563
HP:0002664	Neoplasm	4750	NEK1	OMIM:263520
HP:0002664	Neoplasm	4750	NEK1	ORPHA:2751
HP:0002664	Neoplasm	26005	C2CD3	ORPHA:434179
HP:0002664	Neoplasm	26005	C2CD3	OMIM:615948
HP:0002664	Neoplasm	9786	KIAA0586	OMIM:616546
HP:0002664	Neoplasm	83479	DDX59	OMIM:174300
HP:0002664	Neoplasm	27152	INTU	OMIM:617925
HP:0002664	Neoplasm	1906	EDN1	ORPHA:137888
HP:0002664	Neoplasm	5332	PLCB4	ORPHA:137888
HP:0002664	Neoplasm	2773	GNAI3	ORPHA:137888
HP:0002664	Neoplasm	79583	TMEM231	ORPHA:2752
HP:0002664	Neoplasm	3767	KCNJ11	ORPHA:552
HP:0002664	Neoplasm	8462	KLF11	ORPHA:552
HP:0002664	Neoplasm	2645	GCK	ORPHA:552
HP:0002664	Neoplasm	26060	APPL1	ORPHA:552
HP:0002664	Neoplasm	640	BLK	ORPHA:552
HP:0002664	Neoplasm	1056	CEL	ORPHA:552
HP:0002664	Neoplasm	4760	NEUROD1	ORPHA:552
HP:0002664	Neoplasm	3651	PDX1	ORPHA:552
HP:0002664	Neoplasm	6833	ABCC8	ORPHA:552
HP:0002664	Neoplasm	5078	PAX4	ORPHA:552
HP:0002664	Neoplasm	3172	HNF4A	ORPHA:552
HP:0002664	Neoplasm	6927	HNF1A	ORPHA:552
HP:0002664	Neoplasm	6927	HNF1A	OMIM:142330
HP:0002664	Neoplasm	3630	INS	ORPHA:552
HP:0002664	Neoplasm	5257	PHKB	ORPHA:79240
HP:0002664	Neoplasm	2542	SLC37A4	ORPHA:79259
HP:0002664	Neoplasm	5256	PHKA2	ORPHA:264580
HP:0002664	Neoplasm	5261	PHKG2	ORPHA:264580
HP:0002664	Neoplasm	6872	TAF1	ORPHA:480907
HP:0002664	Neoplasm	6134	RPL10	ORPHA:435938
HP:0002664	Neoplasm	3872	KRT17	OMIM:184500
HP:0002664	Neoplasm	3872	KRT17	OMIM:167210
HP:0002664	Neoplasm	3872	KRT17	ORPHA:2309
HP:0002664	Neoplasm	3872	KRT17	ORPHA:841
HP:0002664	Neoplasm	3854	KRT6B	OMIM:615728
HP:0002664	Neoplasm	3854	KRT6B	ORPHA:2309
HP:0002664	Neoplasm	3868	KRT16	ORPHA:2309
HP:0002664	Neoplasm	3853	KRT6A	ORPHA:2309
HP:0002664	Neoplasm	57105	CYSLTR2	ORPHA:39044
HP:0002664	Neoplasm	2776	GNAQ	ORPHA:39044
HP:0002664	Neoplasm	2767	GNA11	ORPHA:39044
HP:0002664	Neoplasm	23451	SF3B1	ORPHA:39044
HP:0002664	Neoplasm	1308	COL17A1	ORPHA:79406
HP:0002664	Neoplasm	4312	MMP1	ORPHA:79408
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79408
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79409
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79410
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79411
HP:0002664	Neoplasm	7852	CXCR4	ORPHA:51636
HP:0002664	Neoplasm	5429	POLH	OMIM:278750
HP:0002664	Neoplasm	2048	EPHB2	OMIM:603688
HP:0002664	Neoplasm	463	ZFHX3	OMIM:176807
HP:0002664	Neoplasm	1316	KLF6	OMIM:176807
HP:0002664	Neoplasm	367	AR	OMIM:176807
HP:0002664	Neoplasm	4601	MXI1	OMIM:176807
HP:0002664	Neoplasm	8379	MAD1L1	OMIM:176807
HP:0002664	Neoplasm	6041	RNASEL	OMIM:601518
HP:0002664	Neoplasm	4665	NAB2	ORPHA:2126
HP:0002664	Neoplasm	6778	STAT6	ORPHA:2126
HP:0002664	Neoplasm	3553	IL1B	OMIM:613659
HP:0002664	Neoplasm	3557	IL1RN	OMIM:613659
HP:0002664	Neoplasm	3659	IRF1	OMIM:613659
HP:0002664	Neoplasm	6208	RPS14	ORPHA:86841
HP:0002664	Neoplasm	6772	STAT1	ORPHA:391487
HP:0002664	Neoplasm	10043	TOM1	ORPHA:391487
HP:0002664	Neoplasm	23476	BRD4	ORPHA:443167
HP:0002664	Neoplasm	256646	NUTM1	ORPHA:443167
HP:0002664	Neoplasm	970	CD70	OMIM:618261
HP:0002664	Neoplasm	939	CD27	OMIM:615122
HP:0002664	Neoplasm	50619	DEF6	OMIM:619573
HP:0002664	Neoplasm	8651	SOCS1	OMIM:619375
HP:0002664	Neoplasm	6774	STAT3	OMIM:615952
HP:0002664	Neoplasm	5238	PGM3	OMIM:615816
HP:0002664	Neoplasm	6925	TCF4	ORPHA:2896
HP:0002664	Neoplasm	200942	KLHDC8B	OMIM:236000
HP:0002664	Neoplasm	2956	MSH6	OMIM:619097
HP:0002664	Neoplasm	355	FAS	ORPHA:3261
HP:0002664	Neoplasm	356	FASLG	ORPHA:3261
HP:0002664	Neoplasm	5580	PRKCD	ORPHA:3261
HP:0002664	Neoplasm	843	CASP10	ORPHA:3261
HP:0002664	Neoplasm	10125	RASGRP1	ORPHA:3261
HP:0002664	Neoplasm	4683	NBN	ORPHA:647
HP:0002664	Neoplasm	57217	TTC7A	OMIM:243150
HP:0002664	Neoplasm	4292	MLH1	OMIM:276300
HP:0002664	Neoplasm	6850	SYK	OMIM:619381
HP:0002664	Neoplasm	472	ATM	ORPHA:52416
HP:0002664	Neoplasm	3492	IGH	ORPHA:52416
HP:0002664	Neoplasm	3492	IGH	ORPHA:52417
HP:0002664	Neoplasm	330	BIRC3	ORPHA:52417
HP:0002664	Neoplasm	10892	MALT1	ORPHA:52417
HP:0002664	Neoplasm	27086	FOXP1	ORPHA:52417
HP:0002664	Neoplasm	8915	BCL10	ORPHA:52417
HP:0002664	Neoplasm	84061	MAGT1	OMIM:300853
HP:0002664	Neoplasm	23149	FCHO1	OMIM:619164
HP:0002664	Neoplasm	3702	ITK	OMIM:613011
HP:0002664	Neoplasm	100	ADA	OMIM:102700
HP:0002664	Neoplasm	5788	PTPRC	OMIM:619924
HP:0002664	Neoplasm	5295	PIK3R1	OMIM:616005
HP:0002664	Neoplasm	22806	IKZF3	OMIM:619437
HP:0002664	Neoplasm	4773	NFATC2	OMIM:620232
HP:0002664	Neoplasm	1493	CTLA4	ORPHA:3162
HP:0002664	Neoplasm	1493	CTLA4	ORPHA:2584
HP:0002664	Neoplasm	940	CD28	ORPHA:3162
HP:0002664	Neoplasm	940	CD28	ORPHA:2584
HP:0002664	Neoplasm	7133	TNFRSF1B	ORPHA:3162
HP:0002664	Neoplasm	7133	TNFRSF1B	ORPHA:2584
HP:0002664	Neoplasm	389692	MAFA	OMIM:147630
HP:0002664	Neoplasm	4221	MEN1	ORPHA:652
HP:0002664	Neoplasm	4221	MEN1	OMIM:131100
HP:0002664	Neoplasm	1026	CDKN1A	ORPHA:652
HP:0002664	Neoplasm	1030	CDKN2B	ORPHA:652
HP:0002664	Neoplasm	1031	CDKN2C	ORPHA:652
HP:0002664	Neoplasm	657	BMPR1A	OMIM:610069
HP:0002664	Neoplasm	657	BMPR1A	ORPHA:157794
HP:0002664	Neoplasm	26585	GREM1	ORPHA:157794
HP:0002664	Neoplasm	23092	ARHGAP26	OMIM:607785
HP:0002664	Neoplasm	79058	ASPSCR1	OMIM:606243
HP:0002664	Neoplasm	2130	EWSR1	OMIM:612219
HP:0002664	Neoplasm	1385	CREB1	OMIM:612160
HP:0002664	Neoplasm	2165	F13B	ORPHA:331
HP:0002664	Neoplasm	2162	F13A1	ORPHA:331
HP:0002664	Neoplasm	6757	SSX2	OMIM:300813
HP:0002664	Neoplasm	64840	PORCN	ORPHA:2092
HP:0002664	Neoplasm	2316	FLNA	ORPHA:88630
HP:0002664	Neoplasm	56246	MRAP	ORPHA:361
HP:0002664	Neoplasm	6770	STAR	ORPHA:361
HP:0002664	Neoplasm	4158	MC2R	ORPHA:361
HP:0002664	Neoplasm	23530	NNT	ORPHA:361
HP:0002664	Neoplasm	10587	TXNRD2	ORPHA:361
HP:0002664	Neoplasm	1584	CYP11B1	ORPHA:90795
HP:0002664	Neoplasm	54	ACP5	ORPHA:1855
HP:0002664	Neoplasm	137682	NDUFAF6	OMIM:618913
HP:0002664	Neoplasm	399	RHOH	OMIM:618307
HP:0002664	Neoplasm	331	XIAP	OMIM:308240
HP:0002664	Neoplasm	4068	SH2D1A	OMIM:308240
HP:0002664	Neoplasm	2642	GCGR	ORPHA:438274
HP:0002664	Neoplasm	4194	MDM4	OMIM:618849
HP:0002664	Neoplasm	55135	WRAP53	OMIM:613988
HP:0002664	Neoplasm	81704	DOCK8	ORPHA:217390
HP:0002664	Neoplasm	89970	RSPRY1	ORPHA:457395
HP:0002664	Neoplasm	8622	PDE8B	ORPHA:189439
HP:0002664	Neoplasm	2131	EXT1	ORPHA:321
HP:0002664	Neoplasm	2132	EXT2	ORPHA:321
HP:0002664	Neoplasm	1280	COL2A1	OMIM:609162
HP:0002664	Neoplasm	55553	SOX6	OMIM:618971
HP:0002664	Neoplasm	1387	CREBBP	ORPHA:353277
HP:0002664	Neoplasm	1387	CREBBP	ORPHA:353281
HP:0002664	Neoplasm	9817	KEAP1	ORPHA:276399
HP:0002664	Neoplasm	1616	DAXX	ORPHA:100075
HP:0002664	Neoplasm	2313	FLI1	ORPHA:370348
HP:0002664	Neoplasm	25978	CHMP2B	ORPHA:100070
HP:0002664	Neoplasm	5663	PSEN1	ORPHA:100070
HP:0002664	Neoplasm	2896	GRN	ORPHA:100070
HP:0002664	Neoplasm	54664	TMEM106B	ORPHA:100070
HP:0002664	Neoplasm	4137	MAPT	ORPHA:100070
HP:0002664	Neoplasm	7415	VCP	ORPHA:100070
HP:0002664	Neoplasm	22861	NLRP1	OMIM:615225
HP:0002664	Neoplasm	5728	PTEN	OMIM:158350
HP:0002664	Neoplasm	324	APC	OMIM:175100
HP:0002664	Neoplasm	284654	RSPO1	OMIM:610644
HP:0002664	Neoplasm	1027	CDKN1B	OMIM:610755
HP:0002664	Neoplasm	1736	DKC1	OMIM:305000
HP:0002664	Neoplasm	5426	POLE	OMIM:615083
HP:0002664	Neoplasm	3110	MNX1	ORPHA:1552
HP:0002664	Neoplasm	26040	SETBP1	OMIM:269150
HP:0002664	Neoplasm	26040	SETBP1	ORPHA:798
HP:0002664	Neoplasm	64324	NSD1	ORPHA:821
HP:0002664	Neoplasm	29072	SETD2	ORPHA:821
HP:0002664	Neoplasm	10297	APC2	ORPHA:821
HP:0002664	Neoplasm	23405	DICER1	OMIM:180295
HP:0002664	Neoplasm	80326	WNT10A	OMIM:224750
HP:0002664	Neoplasm	56983	POGLUT1	ORPHA:79145
HP:0002664	Neoplasm	23509	POFUT1	ORPHA:79145
HP:0002664	Neoplasm	55851	PSENEN	ORPHA:79145
HP:0002664	Neoplasm	920	CD4	OMIM:619238
HP:0002664	Neoplasm	490	ATP2B1	OMIM:619910
HP:0002664	Neoplasm	84868	HAVCR2	OMIM:618398
HP:0002664	Neoplasm	7174	TPP2	OMIM:619220
HP:0002664	Neoplasm	8216	LZTR1	OMIM:615670
HP:0002664	Neoplasm	8200	GDF5	ORPHA:2098
HP:0002664	Neoplasm	658	BMPR1B	ORPHA:2098
HP:0002664	Neoplasm	2303	FOXC2	ORPHA:33001
HP:0002664	Neoplasm	1277	COL1A1	ORPHA:31112
HP:0002664	Neoplasm	4507	MTAP	OMIM:112250
HP:0002664	Neoplasm	55612	FERMT1	ORPHA:2908
HP:0002664	Neoplasm	3248	HPGD	ORPHA:2796
HP:0002664	Neoplasm	6578	SLCO2A1	ORPHA:2796
HP:0002664	Neoplasm	65998	ZFTA	ORPHA:251636
HP:0002664	Neoplasm	5970	RELA	ORPHA:251636
HP:0002664	Neoplasm	51360	MBTPS2	ORPHA:659
HP:0002664	Neoplasm	162514	TRPV3	ORPHA:659
HP:0002664	Neoplasm	64065	PERP	ORPHA:659
HP:0002664	Neoplasm	129563	DIS3L2	ORPHA:654
HP:0002664	Neoplasm	10155	TRIM28	ORPHA:654
HP:0002664	Neoplasm	11281	POU6F2	ORPHA:654
HP:0002664	Neoplasm	2719	GPC3	ORPHA:654
HP:0002664	Neoplasm	283120	H19	ORPHA:654
HP:0002664	Neoplasm	25802	LMOD1	ORPHA:2241
HP:0002664	Neoplasm	4629	MYH11	ORPHA:2241
HP:0002664	Neoplasm	72	ACTG2	ORPHA:2241
HP:0002664	Neoplasm	4638	MYLK	ORPHA:2241
HP:0002664	Neoplasm	5774	PTPN3	ORPHA:70567
HP:0002664	Neoplasm	410	ARSA	ORPHA:309271
HP:0002664	Neoplasm	5660	PSAP	ORPHA:309271
HP:0002664	Neoplasm	2859	GPR35	ORPHA:171
HP:0002664	Neoplasm	10507	SEMA4D	ORPHA:171
HP:0002664	Neoplasm	4485	MST1	ORPHA:171
HP:0002664	Neoplasm	115908	CTHRC1	OMIM:614266
HP:0002664	Neoplasm	4481	MSR1	OMIM:614266
HP:0002664	Neoplasm	51008	ASCC1	OMIM:614266
HP:0002664	Neoplasm	847	CAT	ORPHA:926
HP:0002664	Neoplasm	3339	HSPG2	ORPHA:800
HP:0002664	Neoplasm	10734	STAG3	OMIM:615723
HP:0002664	Neoplasm	4486	MST1R	OMIM:617075
HP:0002664	Neoplasm	10804	GJB6	ORPHA:477
HP:0002664	Neoplasm	2706	GJB2	ORPHA:477
HP:0002664	Neoplasm	23522	KAT6B	ORPHA:3047
HP:0002664	Neoplasm	4609	MYC	ORPHA:543
HP:0002664	Neoplasm	5324	PLAG1	OMIM:181030
HP:0002664	Neoplasm	23495	TNFRSF13B	ORPHA:1572
HP:0002664	Neoplasm	4790	NFKB1	ORPHA:1572
HP:0002664	Neoplasm	4791	NFKB2	ORPHA:1572
HP:0002664	Neoplasm	115650	TNFRSF13C	ORPHA:1572
HP:0002664	Neoplasm	1380	CR2	ORPHA:1572
HP:0002664	Neoplasm	8742	TNFSF12	ORPHA:1572
HP:0002664	Neoplasm	930	CD19	ORPHA:1572
HP:0002664	Neoplasm	29851	ICOS	ORPHA:1572
HP:0002664	Neoplasm	931	MS4A1	ORPHA:1572
HP:0002664	Neoplasm	975	CD81	ORPHA:1572
HP:0002664	Neoplasm	359948	IRF2BP2	ORPHA:1572
HP:0002664	Neoplasm	6786	STIM1	OMIM:612783
HP:0002664	Neoplasm	3569	IL6	OMIM:148000
HP:0002664	Neoplasm	7293	TNFRSF4	OMIM:615593
HP:0002664	Neoplasm	4693	NDP	ORPHA:649
HP:0002664	Neoplasm	79651	RHBDF2	ORPHA:2198
HP:0002664	Neoplasm	538	ATP7A	ORPHA:198
HP:0002664	Neoplasm	538	ATP7A	OMIM:304150
HP:0002664	Neoplasm	538	ATP7A	ORPHA:565
HP:0002664	Neoplasm	5885	RAD21	OMIM:614701
HP:0002664	Neoplasm	176	ACAN	OMIM:165800
HP:0002664	Neoplasm	60529	ALX4	ORPHA:52022
HP:0002664	Neoplasm	51317	PHF21A	ORPHA:52022
HP:0002664	Neoplasm	7227	TRPS1	ORPHA:502
HP:0002664	Neoplasm	6473	SHOX	ORPHA:240
HP:0002664	Neoplasm	1302	COL11A2	ORPHA:166100
HP:0002664	Neoplasm	3858	KRT10	ORPHA:312
HP:0002664	Neoplasm	3848	KRT1	ORPHA:312
HP:0002664	Neoplasm	3458	IFNG	ORPHA:805
HP:0002664	Neoplasm	7248	TSC1	ORPHA:805
HP:0002664	Neoplasm	7248	TSC1	ORPHA:538
HP:0002664	Neoplasm	7249	TSC2	ORPHA:805
HP:0002664	Neoplasm	7249	TSC2	ORPHA:538
HP:0002664	Neoplasm	9508	ADAMTS3	ORPHA:2136
HP:0002664	Neoplasm	147372	CCBE1	ORPHA:2136
HP:0002664	Neoplasm	79633	FAT4	ORPHA:2136
HP:0002664	Neoplasm	4854	NOTCH3	ORPHA:2591
HP:0002664	Neoplasm	5159	PDGFRB	ORPHA:2591
HP:0002664	Neoplasm	4952	OCRL	ORPHA:534
HP:0002664	Neoplasm	51057	WDPCP	ORPHA:1338
HP:0002664	Neoplasm	215	ABCD1	ORPHA:388
HP:0002664	Neoplasm	1889	ECE1	ORPHA:388
HP:0002664	Neoplasm	6720	SREBF1	ORPHA:388
HP:0002664	Neoplasm	223117	SEMA3D	ORPHA:388
HP:0002664	Neoplasm	1910	EDNRB	ORPHA:388
HP:0002664	Neoplasm	10512	SEMA3C	ORPHA:388
HP:0002664	Neoplasm	2065	ERBB3	ORPHA:388
HP:0002664	Neoplasm	4902	NRTN	ORPHA:388
HP:0002664	Neoplasm	1893	ECM1	ORPHA:530
HP:0002664	Neoplasm	8517	IKBKG	ORPHA:464
HP:0002664	Neoplasm	64421	DCLRE1C	ORPHA:275
HP:0002664	Neoplasm	11322	TMC6	OMIM:226400
HP:0002664	Neoplasm	11322	TMC6	ORPHA:302
HP:0002664	Neoplasm	10519	CIB1	OMIM:618267
HP:0002664	Neoplasm	10519	CIB1	ORPHA:302
HP:0002664	Neoplasm	146206	CARMIL2	OMIM:618131
HP:0002664	Neoplasm	8547	FCN3	OMIM:613860
HP:0002664	Neoplasm	10625	IVNS1ABP	OMIM:618969
HP:0002664	Neoplasm	488	ATP2A2	ORPHA:79151
HP:0002664	Neoplasm	54440	SASH3	OMIM:301082
HP:0002664	Neoplasm	6789	STK4	OMIM:614868
HP:0002664	Neoplasm	6929	TCF3	ORPHA:33110
HP:0002664	Neoplasm	973	CD79A	ORPHA:33110
HP:0002664	Neoplasm	974	CD79B	ORPHA:33110
HP:0002664	Neoplasm	3543	IGLL1	ORPHA:33110
HP:0002664	Neoplasm	3507	IGHM	ORPHA:33110
HP:0002664	Neoplasm	29760	BLNK	ORPHA:33110
HP:0002664	Neoplasm	56262	LRRC8A	ORPHA:33110
HP:0002664	Neoplasm	57165	GJC2	ORPHA:79452
HP:0006743	Embryonal rhabdomyosarcoma	5002	SLC22A18	OMIM:268210
HP:0006743	Embryonal rhabdomyosarcoma	23405	DICER1	OMIM:180295
HP:0006743	Embryonal rhabdomyosarcoma	701	BUB1B	OMIM:257300
HP:0006744	Adrenocortical carcinoma	7157	TP53	OMIM:151623
HP:0006744	Adrenocortical carcinoma	7157	TP53	OMIM:202300
HP:0006744	Adrenocortical carcinoma	7157	TP53	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	7157	TP53	ORPHA:524
HP:0006744	Adrenocortical carcinoma	4221	MEN1	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1027	CDKN1B	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1026	CDKN1A	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1030	CDKN2B	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1031	CDKN2C	ORPHA:652
HP:0006744	Adrenocortical carcinoma	324	APC	OMIM:175100
HP:0006744	Adrenocortical carcinoma	324	APC	ORPHA:247806
HP:0006744	Adrenocortical carcinoma	324	APC	ORPHA:79665
HP:0006744	Adrenocortical carcinoma	1028	CDKN1C	OMIM:130650
HP:0006744	Adrenocortical carcinoma	10984	KCNQ1OT1	OMIM:130650
HP:0006744	Adrenocortical carcinoma	3481	IGF2	OMIM:130650
HP:0006744	Adrenocortical carcinoma	3784	KCNQ1	OMIM:130650
HP:0006744	Adrenocortical carcinoma	84133	ZNRF3	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	5573	PRKAR1A	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1499	CTNNB1	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1029	CDKN2A	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1029	CDKN2A	ORPHA:524
HP:0006744	Adrenocortical carcinoma	7015	TERT	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	4193	MDM2	ORPHA:524
HP:0006744	Adrenocortical carcinoma	11200	CHEK2	ORPHA:524
HP:0000150	Gonadoblastoma	1028	CDKN1C	OMIM:130650
HP:0000150	Gonadoblastoma	10984	KCNQ1OT1	OMIM:130650
HP:0000150	Gonadoblastoma	3481	IGF2	OMIM:130650
HP:0000150	Gonadoblastoma	3784	KCNQ1	OMIM:130650
HP:0000150	Gonadoblastoma	4214	MAP3K1	OMIM:613762
HP:0000150	Gonadoblastoma	4214	MAP3K1	ORPHA:251510
HP:0000150	Gonadoblastoma	6736	SRY	ORPHA:1772
HP:0000150	Gonadoblastoma	6736	SRY	ORPHA:251510
HP:0000150	Gonadoblastoma	6736	SRY	OMIM:400044
HP:0000150	Gonadoblastoma	6662	SOX9	ORPHA:251510
HP:0000150	Gonadoblastoma	6845	VAMP7	ORPHA:251510
HP:0000150	Gonadoblastoma	51741	WWOX	ORPHA:251510
HP:0000150	Gonadoblastoma	2516	NR5A1	ORPHA:251510
HP:0000150	Gonadoblastoma	7490	WT1	ORPHA:251510
HP:0000150	Gonadoblastoma	7490	WT1	OMIM:194072
HP:0000150	Gonadoblastoma	7490	WT1	ORPHA:347
HP:0000150	Gonadoblastoma	58524	DMRT3	ORPHA:251510
HP:0000150	Gonadoblastoma	57647	DHX37	ORPHA:251510
HP:0000150	Gonadoblastoma	23414	ZFPM2	ORPHA:251510
HP:0000150	Gonadoblastoma	190	NR0B1	ORPHA:251510
HP:0000150	Gonadoblastoma	2626	GATA4	ORPHA:251510
HP:0000150	Gonadoblastoma	5080	PAX6	OMIM:194072
HP:0000150	Gonadoblastoma	50846	DHH	OMIM:233420
HP:0000150	Gonadoblastoma	50846	DHH	ORPHA:168563
HP:0001067	Neurofibroma	4763	NF1	OMIM:601321
HP:0001067	Neurofibroma	4763	NF1	OMIM:162200
HP:0001067	Neurofibroma	4763	NF1	OMIM:162210
HP:0001067	Neurofibroma	4763	NF1	OMIM:193520
HP:0001067	Neurofibroma	6390	SDHB	OMIM:606764
HP:0001067	Neurofibroma	6391	SDHC	OMIM:606764
HP:0001067	Neurofibroma	3815	KIT	OMIM:606764
HP:0001067	Neurofibroma	6711	SPTBN1	OMIM:619475
HP:0001067	Neurofibroma	161742	SPRED1	OMIM:611431
HP:0001067	Neurofibroma	161742	SPRED1	ORPHA:137605
HP:0001067	Neurofibroma	8314	BAP1	ORPHA:2495
HP:0001067	Neurofibroma	4771	NF2	ORPHA:2495
HP:0001067	Neurofibroma	6598	SMARCB1	ORPHA:2495
HP:0001067	Neurofibroma	5155	PDGFB	ORPHA:2495
HP:0001067	Neurofibroma	84231	TRAF7	ORPHA:2495
HP:0001067	Neurofibroma	6608	SMO	ORPHA:2495
HP:0001067	Neurofibroma	207	AKT1	ORPHA:2495
HP:0001067	Neurofibroma	5290	PIK3CA	ORPHA:2495
HP:0001067	Neurofibroma	7015	TERT	ORPHA:2495
HP:0001067	Neurofibroma	51684	SUFU	ORPHA:2495
HP:0001067	Neurofibroma	6605	SMARCE1	ORPHA:2495
HP:0001067	Neurofibroma	4035	LRP1	ORPHA:79100
HP:0001067	Neurofibroma	4292	MLH1	OMIM:276300
HP:0006747	Ganglioneuroblastoma	8929	PHOX2B	OMIM:613013
HP:0006747	Ganglioneuroblastoma	8929	PHOX2B	ORPHA:661
HP:0006747	Ganglioneuroblastoma	8929	PHOX2B	ORPHA:2151
HP:0006747	Ganglioneuroblastoma	8929	PHOX2B	OMIM:209880
HP:0006747	Ganglioneuroblastoma	1908	EDN3	ORPHA:661
HP:0006747	Ganglioneuroblastoma	2668	GDNF	ORPHA:661
HP:0006747	Ganglioneuroblastoma	627	BDNF	ORPHA:661
HP:0006747	Ganglioneuroblastoma	283446	MYO1H	ORPHA:661
HP:0006747	Ganglioneuroblastoma	23095	KIF1B	OMIM:256700
HP:0006748	Adrenal pheochromocytoma	7428	VHL	ORPHA:892
HP:0006748	Adrenal pheochromocytoma	7428	VHL	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	7428	VHL	ORPHA:276621
HP:0006748	Adrenal pheochromocytoma	595	CCND1	ORPHA:892
HP:0006748	Adrenal pheochromocytoma	1743	DLST	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	5979	RET	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	5979	RET	ORPHA:276621
HP:0006748	Adrenal pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	2271	FH	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	55654	TMEM127	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	4763	NF1	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	6391	SDHC	OMIM:605373
HP:0006748	Adrenal pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	6392	SDHD	OMIM:168000
HP:0006748	Adrenal pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0006748	Adrenal pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0006748	Adrenal pheochromocytoma	6390	SDHB	OMIM:115310
HP:0006748	Adrenal pheochromocytoma	4149	MAX	ORPHA:29072
HP:0006748	Adrenal pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0006748	Adrenal pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0006749	Malignant gastrointestinal tract tumors	6794	STK11	ORPHA:2869
HP:0006749	Malignant gastrointestinal tract tumors	6794	STK11	OMIM:175200
HP:0006749	Malignant gastrointestinal tract tumors	324	APC	ORPHA:247806
HP:0006749	Malignant gastrointestinal tract tumors	324	APC	ORPHA:79665
HP:0006749	Malignant gastrointestinal tract tumors	7486	WRN	ORPHA:902
HP:0006749	Malignant gastrointestinal tract tumors	4089	SMAD4	OMIM:175050
HP:0006749	Malignant gastrointestinal tract tumors	4072	EPCAM	OMIM:613244
HP:0006749	Malignant gastrointestinal tract tumors	6714	SRC	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	201163	FLCN	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	10395	DLC1	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	11200	CHEK2	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	8313	AXIN2	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5290	PIK3CA	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	2033	EP300	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5782	PTPN12	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5320	PLA2G2A	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	6790	AURKA	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	1630	DCC	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	27030	MLH3	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	27030	MLH3	OMIM:614385
HP:0006749	Malignant gastrointestinal tract tumors	581	BAX	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	25788	RAD54B	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	595	CCND1	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	699	BUB1	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	701	BUB1B	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	2261	FGFR3	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	7097	TLR2	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	4893	NRAS	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	1499	CTNNB1	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	7157	TP53	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	4163	MCC	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	207	AKT1	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5157	PDGFRL	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5795	PTPRJ	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	673	BRAF	OMIM:114500
HP:0006749	Malignant gastrointestinal tract tumors	5395	PMS2	OMIM:614337
HP:0006749	Malignant gastrointestinal tract tumors	5424	POLD1	OMIM:612591
HP:0006749	Malignant gastrointestinal tract tumors	7048	TGFBR2	OMIM:614331
HP:0006749	Malignant gastrointestinal tract tumors	2956	MSH6	OMIM:614350
HP:0006749	Malignant gastrointestinal tract tumors	4436	MSH2	OMIM:158320
HP:0006749	Malignant gastrointestinal tract tumors	4913	NTHL1	OMIM:616415
HP:0006749	Malignant gastrointestinal tract tumors	4913	NTHL1	ORPHA:454840
HP:0006749	Malignant gastrointestinal tract tumors	4292	MLH1	OMIM:276300
HP:0006749	Malignant gastrointestinal tract tumors	7373	COL14A1	ORPHA:79501
HP:0006749	Malignant gastrointestinal tract tumors	79719	AAGAB	ORPHA:79501
HP:0006749	Malignant gastrointestinal tract tumors	2859	GPR35	ORPHA:171
HP:0006749	Malignant gastrointestinal tract tumors	10507	SEMA4D	ORPHA:171
HP:0006749	Malignant gastrointestinal tract tumors	4485	MST1	ORPHA:171
HP:0006749	Malignant gastrointestinal tract tumors	6925	TCF4	ORPHA:171
HP:0006749	Malignant gastrointestinal tract tumors	4595	MUTYH	ORPHA:247798
HP:0006749	Malignant gastrointestinal tract tumors	6135	RPL11	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6138	RPL15	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6229	RPS24	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6125	RPL5	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6204	RPS10	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6224	RPS20	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6165	RPL35A	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	2623	GATA1	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6223	RPS19	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6232	RPS27	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6231	RPS26	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	11224	RPL35	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6160	RPL31	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6218	RPS17	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6201	RPS7	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6155	RPL27	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6154	RPL26	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6210	RPS15A	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	90121	TSR2	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6141	RPL18	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6235	RPS29	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	6234	RPS28	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	51816	ADA2	ORPHA:124
HP:0006749	Malignant gastrointestinal tract tumors	5426	POLE	ORPHA:447877
HP:0006749	Malignant gastrointestinal tract tumors	26585	GREM1	ORPHA:157794
HP:0006749	Malignant gastrointestinal tract tumors	657	BMPR1A	ORPHA:157794
HP:0001402	Hepatocellular carcinoma	355	FAS	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	356	FASLG	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	5580	PRKCD	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	843	CASP10	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	10125	RASGRP1	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	695	BTK	OMIM:300755
HP:0001402	Hepatocellular carcinoma	5265	SERPINA1	OMIM:613490
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231214
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231222
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231226
HP:0001402	Hepatocellular carcinoma	83932	SPRTN	OMIM:616200
HP:0001402	Hepatocellular carcinoma	9414	TJP2	OMIM:615878
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	OMIM:232220
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	ORPHA:79259
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	OMIM:232240
HP:0001402	Hepatocellular carcinoma	4072	EPCAM	ORPHA:144
HP:0001402	Hepatocellular carcinoma	4292	MLH1	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5395	PMS2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	27030	MLH3	ORPHA:144
HP:0001402	Hepatocellular carcinoma	22909	FAN1	ORPHA:144
HP:0001402	Hepatocellular carcinoma	7048	TGFBR2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	3845	KRAS	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5290	PIK3CA	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5290	PIK3CA	OMIM:114550
HP:0001402	Hepatocellular carcinoma	2956	MSH6	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5378	PMS1	ORPHA:144
HP:0001402	Hepatocellular carcinoma	4436	MSH2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	2153	F5	OMIM:600880
HP:0001402	Hepatocellular carcinoma	3717	JAK2	OMIM:600880
HP:0001402	Hepatocellular carcinoma	3594	IL12RB1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	23534	TNPO3	ORPHA:186
HP:0001402	Hepatocellular carcinoma	3592	IL12A	ORPHA:186
HP:0001402	Hepatocellular carcinoma	6689	SPIB	ORPHA:186
HP:0001402	Hepatocellular carcinoma	5450	POU2AF1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	9966	TNFSF15	ORPHA:186
HP:0001402	Hepatocellular carcinoma	79258	MMEL1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	3663	IRF5	ORPHA:186
HP:0001402	Hepatocellular carcinoma	5244	ABCB4	ORPHA:69663
HP:0001402	Hepatocellular carcinoma	64218	SEMA4A	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	657	BMPR1A	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	6224	RPS20	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	182	JAG1	OMIM:118450
HP:0001402	Hepatocellular carcinoma	6514	SLC2A2	ORPHA:2088
HP:0001402	Hepatocellular carcinoma	3145	HMBS	OMIM:176000
HP:0001402	Hepatocellular carcinoma	3145	HMBS	ORPHA:79276
HP:0001402	Hepatocellular carcinoma	540	ATP7B	OMIM:277900
HP:0001402	Hepatocellular carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0001402	Hepatocellular carcinoma	50940	PDE11A	ORPHA:1359
HP:0001402	Hepatocellular carcinoma	10165	SLC25A13	OMIM:603471
HP:0001402	Hepatocellular carcinoma	10165	SLC25A13	ORPHA:247585
HP:0001402	Hepatocellular carcinoma	8647	ABCB11	OMIM:601847
HP:0001402	Hepatocellular carcinoma	2859	GPR35	ORPHA:171
HP:0001402	Hepatocellular carcinoma	10507	SEMA4D	ORPHA:171
HP:0001402	Hepatocellular carcinoma	4485	MST1	ORPHA:171
HP:0001402	Hepatocellular carcinoma	6925	TCF4	ORPHA:171
HP:0001402	Hepatocellular carcinoma	2538	G6PC1	OMIM:232200
HP:0001402	Hepatocellular carcinoma	4358	MPV17	OMIM:256810
HP:0001402	Hepatocellular carcinoma	654	BMP6	ORPHA:465508
HP:0001402	Hepatocellular carcinoma	3077	HFE	ORPHA:465508
HP:0001402	Hepatocellular carcinoma	3077	HFE	OMIM:176100
HP:0001402	Hepatocellular carcinoma	3077	HFE	OMIM:235200
HP:0001402	Hepatocellular carcinoma	5257	PHKB	ORPHA:79240
HP:0001402	Hepatocellular carcinoma	2184	FAH	OMIM:276700
HP:0001402	Hepatocellular carcinoma	2184	FAH	ORPHA:882
HP:0001402	Hepatocellular carcinoma	3481	IGF2	OMIM:180860
HP:0001402	Hepatocellular carcinoma	5836	PYGL	ORPHA:369
HP:0001402	Hepatocellular carcinoma	191	AHCY	ORPHA:88618
HP:0001402	Hepatocellular carcinoma	7157	TP53	OMIM:114550
HP:0001402	Hepatocellular carcinoma	4233	MET	OMIM:114550
HP:0001402	Hepatocellular carcinoma	8312	AXIN1	OMIM:114550
HP:0001402	Hepatocellular carcinoma	841	CASP8	OMIM:114550
HP:0001402	Hepatocellular carcinoma	5157	PDGFRL	OMIM:114550
HP:0001402	Hepatocellular carcinoma	3482	IGF2R	OMIM:114550
HP:0001402	Hepatocellular carcinoma	324	APC	OMIM:114550
HP:0001402	Hepatocellular carcinoma	1499	CTNNB1	OMIM:114550
HP:0001402	Hepatocellular carcinoma	55340	GIMAP5	OMIM:619463
HP:0001402	Hepatocellular carcinoma	7289	TULP3	OMIM:619902
HP:0001402	Hepatocellular carcinoma	1371	CPOX	ORPHA:79273
HP:0001402	Hepatocellular carcinoma	7389	UROD	OMIM:176100
HP:0001402	Hepatocellular carcinoma	5498	PPOX	ORPHA:79473
HP:0001402	Hepatocellular carcinoma	650	BMP2	OMIM:235200
HP:0006753	Neoplasm of the stomach	657	BMPR1A	ORPHA:329971
HP:0006753	Neoplasm of the stomach	657	BMPR1A	OMIM:174900
HP:0006753	Neoplasm of the stomach	4089	SMAD4	ORPHA:329971
HP:0006753	Neoplasm of the stomach	4089	SMAD4	OMIM:174900
HP:0006753	Neoplasm of the stomach	2022	ENG	ORPHA:329971
HP:0006753	Neoplasm of the stomach	6794	STK11	OMIM:175200
HP:0006753	Neoplasm of the stomach	11277	TREX1	OMIM:225750
HP:0006753	Neoplasm of the stomach	5727	PTCH1	OMIM:109400
HP:0006753	Neoplasm of the stomach	4292	MLH1	ORPHA:587
HP:0006753	Neoplasm of the stomach	2956	MSH6	ORPHA:587
HP:0006753	Neoplasm of the stomach	4436	MSH2	ORPHA:587
HP:0006753	Neoplasm of the stomach	6714	SRC	OMIM:114500
HP:0006753	Neoplasm of the stomach	201163	FLCN	OMIM:114500
HP:0006753	Neoplasm of the stomach	10395	DLC1	OMIM:114500
HP:0006753	Neoplasm of the stomach	11200	CHEK2	OMIM:114500
HP:0006753	Neoplasm of the stomach	8313	AXIN2	OMIM:114500
HP:0006753	Neoplasm of the stomach	5290	PIK3CA	OMIM:114500
HP:0006753	Neoplasm of the stomach	2033	EP300	OMIM:114500
HP:0006753	Neoplasm of the stomach	5782	PTPN12	OMIM:114500
HP:0006753	Neoplasm of the stomach	5320	PLA2G2A	OMIM:114500
HP:0006753	Neoplasm of the stomach	6790	AURKA	OMIM:114500
HP:0006753	Neoplasm of the stomach	1630	DCC	OMIM:114500
HP:0006753	Neoplasm of the stomach	27030	MLH3	OMIM:114500
HP:0006753	Neoplasm of the stomach	581	BAX	OMIM:114500
HP:0006753	Neoplasm of the stomach	25788	RAD54B	OMIM:114500
HP:0006753	Neoplasm of the stomach	595	CCND1	OMIM:114500
HP:0006753	Neoplasm of the stomach	699	BUB1	OMIM:114500
HP:0006753	Neoplasm of the stomach	701	BUB1B	OMIM:114500
HP:0006753	Neoplasm of the stomach	2261	FGFR3	OMIM:114500
HP:0006753	Neoplasm of the stomach	7097	TLR2	OMIM:114500
HP:0006753	Neoplasm of the stomach	4893	NRAS	OMIM:114500
HP:0006753	Neoplasm of the stomach	1499	CTNNB1	OMIM:114500
HP:0006753	Neoplasm of the stomach	7157	TP53	OMIM:114500
HP:0006753	Neoplasm of the stomach	4163	MCC	OMIM:114500
HP:0006753	Neoplasm of the stomach	207	AKT1	OMIM:114500
HP:0006753	Neoplasm of the stomach	5157	PDGFRL	OMIM:114500
HP:0006753	Neoplasm of the stomach	5795	PTPRJ	OMIM:114500
HP:0006753	Neoplasm of the stomach	673	BRAF	OMIM:114500
HP:0006753	Neoplasm of the stomach	8314	BAP1	ORPHA:618
HP:0006753	Neoplasm of the stomach	4286	MITF	ORPHA:618
HP:0006753	Neoplasm of the stomach	1019	CDK4	ORPHA:618
HP:0006753	Neoplasm of the stomach	4255	MGMT	ORPHA:618
HP:0006753	Neoplasm of the stomach	54386	TERF2IP	ORPHA:618
HP:0006753	Neoplasm of the stomach	4157	MC1R	ORPHA:618
HP:0006753	Neoplasm of the stomach	65057	ACD	ORPHA:618
HP:0006753	Neoplasm of the stomach	1029	CDKN2A	ORPHA:618
HP:0006753	Neoplasm of the stomach	7015	TERT	ORPHA:618
HP:0006753	Neoplasm of the stomach	25913	POT1	ORPHA:618
HP:0006753	Neoplasm of the stomach	1030	CDKN2B	ORPHA:618
HP:0006753	Neoplasm of the stomach	6389	SDHA	ORPHA:44890
HP:0006753	Neoplasm of the stomach	6390	SDHB	ORPHA:44890
HP:0006753	Neoplasm of the stomach	6391	SDHC	ORPHA:44890
HP:0006753	Neoplasm of the stomach	5156	PDGFRA	ORPHA:44890
HP:0006753	Neoplasm of the stomach	3815	KIT	ORPHA:44890
HP:0006753	Neoplasm of the stomach	5573	PRKAR1A	ORPHA:1359
HP:0006753	Neoplasm of the stomach	50940	PDE11A	ORPHA:1359
HP:0006753	Neoplasm of the stomach	641	BLM	ORPHA:125
HP:0006753	Neoplasm of the stomach	9184	BUB3	ORPHA:1052
HP:0006753	Neoplasm of the stomach	9702	CEP57	ORPHA:1052
HP:0006753	Neoplasm of the stomach	9319	TRIP13	ORPHA:1052
HP:0006753	Neoplasm of the stomach	999	CDH1	OMIM:137215
HP:0006753	Neoplasm of the stomach	64218	SEMA4A	ORPHA:440437
HP:0006753	Neoplasm of the stomach	6224	RPS20	ORPHA:440437
HP:0006753	Neoplasm of the stomach	3553	IL1B	OMIM:613659
HP:0006753	Neoplasm of the stomach	4595	MUTYH	OMIM:613659
HP:0006753	Neoplasm of the stomach	3557	IL1RN	OMIM:613659
HP:0006753	Neoplasm of the stomach	3845	KRAS	OMIM:613659
HP:0006753	Neoplasm of the stomach	843	CASP10	OMIM:613659
HP:0006753	Neoplasm of the stomach	3659	IRF1	OMIM:613659
HP:0006753	Neoplasm of the stomach	2064	ERBB2	OMIM:613659
HP:0006753	Neoplasm of the stomach	1316	KLF6	OMIM:613659
HP:0006753	Neoplasm of the stomach	2263	FGFR2	OMIM:613659
HP:0006753	Neoplasm of the stomach	7373	COL14A1	ORPHA:79501
HP:0006753	Neoplasm of the stomach	79719	AAGAB	ORPHA:79501
HP:0006753	Neoplasm of the stomach	4193	MDM2	ORPHA:524
HP:0006753	Neoplasm of the stomach	324	APC	OMIM:619182
HP:0006753	Neoplasm of the stomach	4437	MSH3	OMIM:617100
HP:0006753	Neoplasm of the stomach	8915	BCL10	OMIM:137245
HP:0002858	Meningioma	4221	MEN1	ORPHA:652
HP:0002858	Meningioma	1027	CDKN1B	ORPHA:652
HP:0002858	Meningioma	1026	CDKN1A	ORPHA:652
HP:0002858	Meningioma	1030	CDKN2B	ORPHA:652
HP:0002858	Meningioma	1031	CDKN2C	ORPHA:652
HP:0002858	Meningioma	4763	NF1	OMIM:162200
HP:0002858	Meningioma	4913	NTHL1	ORPHA:454840
HP:0002858	Meningioma	4913	NTHL1	OMIM:616415
HP:0002858	Meningioma	1387	CREBBP	ORPHA:353277
HP:0002858	Meningioma	1387	CREBBP	ORPHA:353281
HP:0002858	Meningioma	8930	MBD4	OMIM:619975
HP:0002858	Meningioma	5728	PTEN	ORPHA:109
HP:0002858	Meningioma	5728	PTEN	ORPHA:744
HP:0002858	Meningioma	5728	PTEN	ORPHA:201
HP:0002858	Meningioma	5728	PTEN	OMIM:158350
HP:0002858	Meningioma	5728	PTEN	OMIM:607174
HP:0002858	Meningioma	7486	WRN	ORPHA:902
HP:0002858	Meningioma	7486	WRN	OMIM:277700
HP:0002858	Meningioma	11200	CHEK2	OMIM:609265
HP:0002858	Meningioma	10483	SEC23B	ORPHA:201
HP:0002858	Meningioma	6390	SDHB	ORPHA:201
HP:0002858	Meningioma	6392	SDHD	ORPHA:201
HP:0002858	Meningioma	6391	SDHC	ORPHA:201
HP:0002858	Meningioma	205717	USF3	ORPHA:201
HP:0002858	Meningioma	100144748	KLLN	ORPHA:201
HP:0002858	Meningioma	11235	PDCD10	ORPHA:221061
HP:0002858	Meningioma	83605	CCM2	ORPHA:221061
HP:0002858	Meningioma	889	KRIT1	ORPHA:221061
HP:0002858	Meningioma	8665	EIF3F	OMIM:618295
HP:0002858	Meningioma	4893	NRAS	OMIM:249400
HP:0002858	Meningioma	79798	ARMC5	ORPHA:189427
HP:0002858	Meningioma	2778	GNAS	ORPHA:189427
HP:0002858	Meningioma	2033	EP300	ORPHA:353284
HP:0002858	Meningioma	4000	LMNA	ORPHA:79474
HP:0002858	Meningioma	4330	MN1	OMIM:607174
HP:0002858	Meningioma	8314	BAP1	ORPHA:2495
HP:0002858	Meningioma	4771	NF2	ORPHA:2495
HP:0002858	Meningioma	4771	NF2	ORPHA:637
HP:0002858	Meningioma	6598	SMARCB1	ORPHA:2495
HP:0002858	Meningioma	5155	PDGFB	ORPHA:2495
HP:0002858	Meningioma	84231	TRAF7	ORPHA:2495
HP:0002858	Meningioma	6608	SMO	ORPHA:2495
HP:0002858	Meningioma	207	AKT1	ORPHA:2495
HP:0002858	Meningioma	5290	PIK3CA	ORPHA:2495
HP:0002858	Meningioma	7015	TERT	ORPHA:2495
HP:0002858	Meningioma	51684	SUFU	ORPHA:2495
HP:0002858	Meningioma	6605	SMARCE1	ORPHA:2495
HP:0006755	Cutaneous leiomyosarcoma	2271	FH	OMIM:150800
HP:0006755	Cutaneous leiomyosarcoma	201163	FLCN	OMIM:135150
HP:0006756	Diffuse leiomyomatosis	1287	COL4A5	OMIM:301050
HP:0006756	Diffuse leiomyomatosis	1287	COL4A5	ORPHA:1018
HP:0006756	Diffuse leiomyomatosis	1288	COL4A6	ORPHA:1018
HP:0006758	Malignant genitourinary tract tumor	4292	MLH1	OMIM:158320
HP:0006758	Malignant genitourinary tract tumor	4292	MLH1	ORPHA:587
HP:0006758	Malignant genitourinary tract tumor	4436	MSH2	OMIM:158320
HP:0006758	Malignant genitourinary tract tumor	4436	MSH2	ORPHA:587
HP:0006758	Malignant genitourinary tract tumor	641	BLM	ORPHA:125
HP:0006758	Malignant genitourinary tract tumor	2956	MSH6	ORPHA:587
HP:0006758	Malignant genitourinary tract tumor	6135	RPL11	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6138	RPL15	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6229	RPS24	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6125	RPL5	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6204	RPS10	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6224	RPS20	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6165	RPL35A	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	2623	GATA1	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6223	RPS19	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6232	RPS27	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6231	RPS26	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	11224	RPL35	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6160	RPL31	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6218	RPS17	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6201	RPS7	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6155	RPL27	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6154	RPL26	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6210	RPS15A	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	90121	TSR2	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6141	RPL18	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6235	RPS29	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	6234	RPS28	ORPHA:124
HP:0006758	Malignant genitourinary tract tumor	51816	ADA2	ORPHA:124
HP:0032612	Triphalangeal hallux	6608	SMO	OMIM:601707
HP:0032612	Triphalangeal hallux	55764	IFT122	OMIM:218330
HP:0032615	Abnormal diffusion weighted cerebral MRI morphology	284184	NDUFAF8	OMIM:618776
HP:0032618	Renal necrosis	3909	LAMA3	ORPHA:79404
HP:0032618	Renal necrosis	3918	LAMC2	ORPHA:79404
HP:0032618	Renal necrosis	3914	LAMB3	ORPHA:79404
HP:0032618	Renal necrosis	1376	CPT2	ORPHA:228302
HP:0032618	Renal necrosis	1376	CPT2	ORPHA:228308
HP:0032618	Renal necrosis	116085	SLC22A12	OMIM:220150
HP:0006768	Localized neuroblastoma	203068	TUBB	ORPHA:2505
HP:0006768	Localized neuroblastoma	203068	TUBB	OMIM:156610
HP:0006768	Localized neuroblastoma	10982	MAPRE2	ORPHA:2505
HP:0006769	Myxoid subcutaneous tumors	5573	PRKAR1A	OMIM:160980
HP:0006880	Cerebellar hemangioblastoma	7428	VHL	ORPHA:892
HP:0006880	Cerebellar hemangioblastoma	7428	VHL	OMIM:193300
HP:0006880	Cerebellar hemangioblastoma	595	CCND1	ORPHA:892
HP:0006880	Cerebellar hemangioblastoma	595	CCND1	OMIM:193300
HP:0006763	Anal canal squamous carcinoma	81704	DOCK8	ORPHA:217390
HP:0006765	Chondrosarcoma	2131	EXT1	ORPHA:321
HP:0006765	Chondrosarcoma	2131	EXT1	OMIM:133700
HP:0006765	Chondrosarcoma	2131	EXT1	OMIM:215300
HP:0006765	Chondrosarcoma	2132	EXT2	ORPHA:321
HP:0006765	Chondrosarcoma	2132	EXT2	OMIM:133701
HP:0006765	Chondrosarcoma	3418	IDH2	ORPHA:163634
HP:0006765	Chondrosarcoma	3418	IDH2	ORPHA:296
HP:0006765	Chondrosarcoma	3417	IDH1	ORPHA:163634
HP:0006765	Chondrosarcoma	3417	IDH1	ORPHA:296
HP:0006765	Chondrosarcoma	5745	PTH1R	ORPHA:296
HP:0006765	Chondrosarcoma	8148	TAF15	OMIM:612237
HP:0006765	Chondrosarcoma	8013	NR4A3	OMIM:612237
HP:0006766	Papillary renal cell carcinoma	2271	FH	ORPHA:523
HP:0006766	Papillary renal cell carcinoma	79577	CDC73	OMIM:145001
HP:0006766	Papillary renal cell carcinoma	4000	LMNA	ORPHA:363618
HP:0006766	Papillary renal cell carcinoma	2304	FOXE1	ORPHA:319487
HP:0006766	Papillary renal cell carcinoma	3026	HABP2	ORPHA:319487
HP:0006766	Papillary renal cell carcinoma	9562	MINPP1	ORPHA:319487
HP:0006766	Papillary renal cell carcinoma	4233	MET	OMIM:605074
HP:0006766	Papillary renal cell carcinoma	5546	PRCC	OMIM:605074
HP:0006767	Pituitary prolactin cell adenoma	4221	MEN1	ORPHA:652
HP:0006767	Pituitary prolactin cell adenoma	4221	MEN1	ORPHA:99725
HP:0006767	Pituitary prolactin cell adenoma	4221	MEN1	ORPHA:97279
HP:0006767	Pituitary prolactin cell adenoma	4221	MEN1	OMIM:131100
HP:0006767	Pituitary prolactin cell adenoma	1027	CDKN1B	ORPHA:652
HP:0006767	Pituitary prolactin cell adenoma	1027	CDKN1B	ORPHA:276152
HP:0006767	Pituitary prolactin cell adenoma	1026	CDKN1A	ORPHA:652
HP:0006767	Pituitary prolactin cell adenoma	1030	CDKN2B	ORPHA:652
HP:0006767	Pituitary prolactin cell adenoma	1031	CDKN2C	ORPHA:652
HP:0006767	Pituitary prolactin cell adenoma	9049	AIP	ORPHA:99725
HP:0006767	Pituitary prolactin cell adenoma	9049	AIP	ORPHA:963
HP:0006767	Pituitary prolactin cell adenoma	9049	AIP	OMIM:102200
HP:0006767	Pituitary prolactin cell adenoma	7528	YY1	ORPHA:97279
HP:0006767	Pituitary prolactin cell adenoma	83550	GPR101	ORPHA:963
HP:0032622	Tubular luminal dilatation	286204	CRB2	OMIM:219730
HP:0032622	Tubular luminal dilatation	7289	TULP3	OMIM:619902
HP:0032622	Tubular luminal dilatation	51473	DCDC2	ORPHA:84081
HP:0032622	Tubular luminal dilatation	91147	TMEM67	ORPHA:84081
HP:0032622	Tubular luminal dilatation	254428	SLC41A1	OMIM:619468
HP:0006779	Alveolar rhabdomyosarcoma	5081	PAX7	OMIM:268220
HP:0006779	Alveolar rhabdomyosarcoma	2308	FOXO1	OMIM:268220
HP:0006779	Alveolar rhabdomyosarcoma	5077	PAX3	OMIM:268220
HP:0006779	Alveolar rhabdomyosarcoma	9817	KEAP1	ORPHA:276399
HP:0006779	Alveolar rhabdomyosarcoma	23405	DICER1	ORPHA:276399
HP:0006770	Clear cell renal cell carcinoma	64127	NOD2	ORPHA:90340
HP:0006771	Duodenal adenocarcinoma	4292	MLH1	OMIM:158320
HP:0006771	Duodenal adenocarcinoma	4436	MSH2	OMIM:158320
HP:0006771	Duodenal adenocarcinoma	324	APC	OMIM:175100
HP:0006771	Duodenal adenocarcinoma	324	APC	ORPHA:247806
HP:0006771	Duodenal adenocarcinoma	4913	NTHL1	OMIM:616415
HP:0006771	Duodenal adenocarcinoma	4913	NTHL1	ORPHA:454840
HP:0006771	Duodenal adenocarcinoma	4089	SMAD4	OMIM:174900
HP:0006771	Duodenal adenocarcinoma	657	BMPR1A	OMIM:174900
HP:0006771	Duodenal adenocarcinoma	657	BMPR1A	ORPHA:157794
HP:0006771	Duodenal adenocarcinoma	26585	GREM1	ORPHA:157794
HP:0006772	Renal angiomyolipoma	7249	TSC2	OMIM:613254
HP:0006772	Renal angiomyolipoma	7249	TSC2	ORPHA:805
HP:0006772	Renal angiomyolipoma	7249	TSC2	ORPHA:538
HP:0006772	Renal angiomyolipoma	3458	IFNG	OMIM:613254
HP:0006772	Renal angiomyolipoma	3458	IFNG	ORPHA:805
HP:0006772	Renal angiomyolipoma	4598	MVK	OMIM:260920
HP:0006772	Renal angiomyolipoma	7248	TSC1	ORPHA:805
HP:0006772	Renal angiomyolipoma	7248	TSC1	OMIM:191100
HP:0006772	Renal angiomyolipoma	7248	TSC1	ORPHA:538
HP:0006772	Renal angiomyolipoma	1027	CDKN1B	OMIM:610755
HP:0006772	Renal angiomyolipoma	1027	CDKN1B	ORPHA:276152
HP:0006774	Ovarian papillary adenocarcinoma	999	CDH1	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	5071	PRKN	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	4978	OPCML	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	207	AKT1	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	2064	ERBB2	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	5290	PIK3CA	OMIM:167000
HP:0006774	Ovarian papillary adenocarcinoma	1499	CTNNB1	OMIM:167000
HP:0006775	Multiple myeloma	2629	GBA1	OMIM:230800
HP:0006775	Multiple myeloma	171023	ASXL1	ORPHA:98849
HP:0006775	Multiple myeloma	54790	TET2	ORPHA:98849
HP:0006775	Multiple myeloma	3815	KIT	ORPHA:98849
HP:0006775	Multiple myeloma	6427	SRSF2	ORPHA:98849
HP:0006775	Multiple myeloma	595	CCND1	OMIM:254500
HP:0006775	Multiple myeloma	3981	LIG4	OMIM:254500
HP:0002861	Melanoma	7298	TYMS	OMIM:620040
HP:0002861	Melanoma	54894	RNF43	ORPHA:157798
HP:0002861	Melanoma	284058	KANSL1	ORPHA:363958
HP:0002861	Melanoma	284058	KANSL1	ORPHA:363965
HP:0002861	Melanoma	388662	SLC6A17	ORPHA:457212
HP:0002861	Melanoma	285282	RABL3	OMIM:618680
HP:0002861	Melanoma	285282	RABL3	ORPHA:1333
HP:0002861	Melanoma	7015	TERT	OMIM:615134
HP:0002861	Melanoma	7015	TERT	ORPHA:618
HP:0002861	Melanoma	1029	CDKN2A	OMIM:606719
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:524
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:1333
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:618
HP:0002861	Melanoma	1643	DDB2	OMIM:278740
HP:0002861	Melanoma	1643	DDB2	ORPHA:910
HP:0002861	Melanoma	9401	RECQL4	ORPHA:221016
HP:0002861	Melanoma	2074	ERCC6	OMIM:278800
HP:0002861	Melanoma	7486	WRN	ORPHA:902
HP:0002861	Melanoma	5429	POLH	ORPHA:90342
HP:0002861	Melanoma	5781	PTPN11	ORPHA:500
HP:0002861	Melanoma	673	BRAF	ORPHA:500
HP:0002861	Melanoma	5894	RAF1	ORPHA:500
HP:0002861	Melanoma	7507	XPA	OMIM:278700
HP:0002861	Melanoma	7507	XPA	ORPHA:910
HP:0002861	Melanoma	7373	COL14A1	ORPHA:79501
HP:0002861	Melanoma	79719	AAGAB	ORPHA:79501
HP:0002861	Melanoma	7157	TP53	ORPHA:524
HP:0002861	Melanoma	7157	TP53	ORPHA:145
HP:0002861	Melanoma	7157	TP53	ORPHA:1333
HP:0002861	Melanoma	4193	MDM2	ORPHA:524
HP:0002861	Melanoma	11200	CHEK2	ORPHA:524
HP:0002861	Melanoma	11200	CHEK2	ORPHA:145
HP:0002861	Melanoma	672	BRCA1	ORPHA:145
HP:0002861	Melanoma	672	BRCA1	ORPHA:1333
HP:0002861	Melanoma	5892	RAD51D	ORPHA:145
HP:0002861	Melanoma	675	BRCA2	ORPHA:145
HP:0002861	Melanoma	675	BRCA2	ORPHA:1333
HP:0002861	Melanoma	5728	PTEN	ORPHA:145
HP:0002861	Melanoma	5728	PTEN	ORPHA:201
HP:0002861	Melanoma	10111	RAD50	ORPHA:145
HP:0002861	Melanoma	580	BARD1	ORPHA:145
HP:0002861	Melanoma	5888	RAD51	ORPHA:145
HP:0002861	Melanoma	4683	NBN	ORPHA:145
HP:0002861	Melanoma	5889	RAD51C	ORPHA:145
HP:0002861	Melanoma	83990	BRIP1	ORPHA:145
HP:0002861	Melanoma	4361	MRE11	ORPHA:145
HP:0002861	Melanoma	79728	PALB2	ORPHA:145
HP:0002861	Melanoma	79728	PALB2	ORPHA:1333
HP:0002861	Melanoma	10483	SEC23B	ORPHA:201
HP:0002861	Melanoma	6390	SDHB	ORPHA:201
HP:0002861	Melanoma	6392	SDHD	ORPHA:201
HP:0002861	Melanoma	6391	SDHC	ORPHA:201
HP:0002861	Melanoma	207	AKT1	ORPHA:201
HP:0002861	Melanoma	205717	USF3	ORPHA:201
HP:0002861	Melanoma	5290	PIK3CA	ORPHA:201
HP:0002861	Melanoma	100144748	KLLN	ORPHA:201
HP:0002861	Melanoma	4893	NRAS	OMIM:249400
HP:0002861	Melanoma	3845	KRAS	ORPHA:1333
HP:0002861	Melanoma	4089	SMAD4	ORPHA:1333
HP:0002861	Melanoma	23022	PALLD	ORPHA:1333
HP:0002861	Melanoma	2068	ERCC2	ORPHA:220295
HP:0002861	Melanoma	2068	ERCC2	OMIM:278730
HP:0002861	Melanoma	2068	ERCC2	ORPHA:910
HP:0002861	Melanoma	2073	ERCC5	ORPHA:220295
HP:0002861	Melanoma	2073	ERCC5	ORPHA:910
HP:0002861	Melanoma	2072	ERCC4	ORPHA:220295
HP:0002861	Melanoma	2072	ERCC4	ORPHA:910
HP:0002861	Melanoma	2071	ERCC3	ORPHA:220295
HP:0002861	Melanoma	2071	ERCC3	ORPHA:910
HP:0002861	Melanoma	8314	BAP1	ORPHA:618
HP:0002861	Melanoma	4286	MITF	ORPHA:618
HP:0002861	Melanoma	1019	CDK4	ORPHA:618
HP:0002861	Melanoma	4255	MGMT	ORPHA:618
HP:0002861	Melanoma	54386	TERF2IP	ORPHA:618
HP:0002861	Melanoma	4157	MC1R	ORPHA:618
HP:0002861	Melanoma	65057	ACD	ORPHA:618
HP:0002861	Melanoma	25913	POT1	ORPHA:618
HP:0002861	Melanoma	25913	POT1	OMIM:615848
HP:0002861	Melanoma	1030	CDKN2B	ORPHA:618
HP:0002861	Melanoma	51360	MBTPS2	ORPHA:659
HP:0002861	Melanoma	162514	TRPV3	ORPHA:659
HP:0002861	Melanoma	64065	PERP	ORPHA:659
HP:0002861	Melanoma	7299	TYR	ORPHA:79434
HP:0002861	Melanoma	7508	XPC	ORPHA:910
HP:0002861	Melanoma	1075	CTSC	ORPHA:678
HP:0002861	Melanoma	64682	ANAPC1	ORPHA:221008
HP:0002861	Melanoma	8930	MBD4	OMIM:619975
HP:0002861	Melanoma	8930	MBD4	OMIM:606660
HP:0002861	Melanoma	57105	CYSLTR2	ORPHA:39044
HP:0002861	Melanoma	2776	GNAQ	ORPHA:39044
HP:0002861	Melanoma	2767	GNA11	ORPHA:39044
HP:0002861	Melanoma	23451	SF3B1	ORPHA:39044
HP:0002861	Melanoma	1308	COL17A1	ORPHA:79406
HP:0002861	Melanoma	4312	MMP1	ORPHA:79408
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79408
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79409
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79410
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79411
HP:0002861	Melanoma	3265	HRAS	OMIM:137550
HP:0002861	Melanoma	3265	HRAS	ORPHA:2874
HP:0002861	Melanoma	7852	CXCR4	ORPHA:51636
HP:0002861	Melanoma	6794	STK11	OMIM:155600
HP:0002861	Melanoma	4948	OCA2	ORPHA:79432
HP:0006778	Benign genitourinary tract neoplasm	4292	MLH1	OMIM:158320
HP:0006778	Benign genitourinary tract neoplasm	4436	MSH2	OMIM:158320
HP:0032638	Elevated urine mevalonic acid level	4598	MVK	OMIM:260920
HP:0032638	Elevated urine mevalonic acid level	4598	MVK	OMIM:610377
HP:0032639	Elevated leukocyte cystine	1497	CTNS	ORPHA:411641
HP:0032639	Elevated leukocyte cystine	1497	CTNS	ORPHA:411634
HP:0032639	Elevated leukocyte cystine	1497	CTNS	OMIM:219750
HP:0006780	Parathyroid carcinoma	79577	CDC73	OMIM:145001
HP:0006780	Parathyroid carcinoma	79577	CDC73	ORPHA:143
HP:0006780	Parathyroid carcinoma	79577	CDC73	OMIM:608266
HP:0006780	Parathyroid carcinoma	4221	MEN1	ORPHA:652
HP:0006780	Parathyroid carcinoma	1027	CDKN1B	ORPHA:652
HP:0006780	Parathyroid carcinoma	1027	CDKN1B	ORPHA:276152
HP:0006780	Parathyroid carcinoma	1026	CDKN1A	ORPHA:652
HP:0006780	Parathyroid carcinoma	1030	CDKN2B	ORPHA:652
HP:0006780	Parathyroid carcinoma	1031	CDKN2C	ORPHA:652
HP:0006780	Parathyroid carcinoma	9247	GCM2	OMIM:617343
HP:0006781	Hurthle cell thyroid adenoma	79577	CDC73	OMIM:145001
HP:0006782	Malignant eosinophil proliferation	5159	PDGFRB	OMIM:131440
HP:0012200	Abnormality of prothrombin	8328	GFI1B	OMIM:187900
HP:0012200	Abnormality of prothrombin	3155	HMGCL	ORPHA:20
HP:0012200	Abnormality of prothrombin	51594	NBAS	OMIM:616483
HP:0012200	Abnormality of prothrombin	55532	SLC30A10	ORPHA:309854
HP:0012200	Abnormality of prothrombin	2677	GGCX	OMIM:277450
HP:0012200	Abnormality of prothrombin	2677	GGCX	OMIM:610842
HP:0012200	Abnormality of prothrombin	132	ADK	OMIM:614300
HP:0012200	Abnormality of prothrombin	5009	OTC	OMIM:311250
HP:0012200	Abnormality of prothrombin	9420	CYP7B1	OMIM:613812
HP:0012200	Abnormality of prothrombin	23600	AMACR	OMIM:214950
HP:0012200	Abnormality of prothrombin	6718	AKR1D1	ORPHA:79303
HP:0012200	Abnormality of prothrombin	2158	F9	OMIM:306900
HP:0012200	Abnormality of prothrombin	5551	PRF1	OMIM:603553
HP:0012200	Abnormality of prothrombin	3998	LMAN1	ORPHA:35909
HP:0012200	Abnormality of prothrombin	90411	MCFD2	ORPHA:35909
HP:0012200	Abnormality of prothrombin	79631	EFL1	OMIM:617941
HP:0012200	Abnormality of prothrombin	3075	CFH	ORPHA:244242
HP:0012200	Abnormality of prothrombin	3426	CFI	ORPHA:244242
HP:0012200	Abnormality of prothrombin	4179	CD46	ORPHA:244242
HP:0012200	Abnormality of prothrombin	101101692	HELLPAR	ORPHA:244242
HP:0012200	Abnormality of prothrombin	2542	SLC37A4	OMIM:619525
HP:0012200	Abnormality of prothrombin	10165	SLC25A13	ORPHA:247598
HP:0012200	Abnormality of prothrombin	3033	HADH	ORPHA:71212
HP:0012200	Abnormality of prothrombin	55768	NGLY1	ORPHA:404454
HP:0012200	Abnormality of prothrombin	2159	F10	OMIM:227600
HP:0012200	Abnormality of prothrombin	2159	F10	ORPHA:328
HP:0012200	Abnormality of prothrombin	55687	TRMU	OMIM:613070
HP:0012200	Abnormality of prothrombin	60561	RINT1	OMIM:618641
HP:0012200	Abnormality of prothrombin	2153	F5	OMIM:227400
HP:0012200	Abnormality of prothrombin	2859	GPR35	ORPHA:171
HP:0012200	Abnormality of prothrombin	10507	SEMA4D	ORPHA:171
HP:0012200	Abnormality of prothrombin	4485	MST1	ORPHA:171
HP:0012200	Abnormality of prothrombin	6925	TCF4	ORPHA:171
HP:0012200	Abnormality of prothrombin	100131801	PET100	OMIM:619055
HP:0012200	Abnormality of prothrombin	125988	MICOS13	OMIM:618329
HP:0012200	Abnormality of prothrombin	5236	PGM1	OMIM:614921
HP:0012200	Abnormality of prothrombin	2147	F2	OMIM:613679
HP:0012200	Abnormality of prothrombin	2147	F2	ORPHA:325
HP:0012200	Abnormality of prothrombin	3117	HLA-DQA1	OMIM:212750
HP:0012200	Abnormality of prothrombin	3119	HLA-DQB1	OMIM:212750
HP:0012200	Abnormality of prothrombin	2184	FAH	OMIM:276700
HP:0012200	Abnormality of prothrombin	10020	GNE	ORPHA:3166
HP:0012200	Abnormality of prothrombin	79087	ALG12	ORPHA:79324
HP:0012200	Abnormality of prothrombin	2155	F7	ORPHA:327
HP:0012200	Abnormality of prothrombin	4547	MTTP	ORPHA:14
HP:0012200	Abnormality of prothrombin	191	AHCY	ORPHA:88618
HP:0012200	Abnormality of prothrombin	81570	CLPB	OMIM:616271
HP:0012200	Abnormality of prothrombin	9971	NR1H4	OMIM:617049
HP:0012200	Abnormality of prothrombin	84342	COG8	ORPHA:95428
HP:0012200	Abnormality of prothrombin	6655	SOS2	OMIM:616559
HP:0012200	Abnormality of prothrombin	28976	ACAD9	ORPHA:99901
HP:0012200	Abnormality of prothrombin	5373	PMM2	OMIM:212065
HP:0012200	Abnormality of prothrombin	175	AGA	OMIM:208400
HP:0012200	Abnormality of prothrombin	8985	PLOD3	OMIM:612394
HP:0012200	Abnormality of prothrombin	79001	VKORC1	OMIM:607473
HP:0008151	Prolonged prothrombin time	3155	HMGCL	ORPHA:20
HP:0008151	Prolonged prothrombin time	51594	NBAS	OMIM:616483
HP:0008151	Prolonged prothrombin time	55532	SLC30A10	ORPHA:309854
HP:0008151	Prolonged prothrombin time	2677	GGCX	OMIM:277450
HP:0008151	Prolonged prothrombin time	2677	GGCX	OMIM:610842
HP:0008151	Prolonged prothrombin time	132	ADK	OMIM:614300
HP:0008151	Prolonged prothrombin time	5009	OTC	OMIM:311250
HP:0008151	Prolonged prothrombin time	9420	CYP7B1	OMIM:613812
HP:0008151	Prolonged prothrombin time	23600	AMACR	OMIM:214950
HP:0008151	Prolonged prothrombin time	6718	AKR1D1	ORPHA:79303
HP:0008151	Prolonged prothrombin time	2158	F9	OMIM:306900
HP:0008151	Prolonged prothrombin time	5551	PRF1	OMIM:603553
HP:0008151	Prolonged prothrombin time	3998	LMAN1	ORPHA:35909
HP:0008151	Prolonged prothrombin time	90411	MCFD2	ORPHA:35909
HP:0008151	Prolonged prothrombin time	79631	EFL1	OMIM:617941
HP:0008151	Prolonged prothrombin time	3075	CFH	ORPHA:244242
HP:0008151	Prolonged prothrombin time	3426	CFI	ORPHA:244242
HP:0008151	Prolonged prothrombin time	4179	CD46	ORPHA:244242
HP:0008151	Prolonged prothrombin time	101101692	HELLPAR	ORPHA:244242
HP:0008151	Prolonged prothrombin time	2542	SLC37A4	OMIM:619525
HP:0008151	Prolonged prothrombin time	10165	SLC25A13	ORPHA:247598
HP:0008151	Prolonged prothrombin time	3033	HADH	ORPHA:71212
HP:0008151	Prolonged prothrombin time	55768	NGLY1	ORPHA:404454
HP:0008151	Prolonged prothrombin time	2159	F10	OMIM:227600
HP:0008151	Prolonged prothrombin time	2159	F10	ORPHA:328
HP:0008151	Prolonged prothrombin time	55687	TRMU	OMIM:613070
HP:0008151	Prolonged prothrombin time	60561	RINT1	OMIM:618641
HP:0008151	Prolonged prothrombin time	2153	F5	OMIM:227400
HP:0008151	Prolonged prothrombin time	2859	GPR35	ORPHA:171
HP:0008151	Prolonged prothrombin time	10507	SEMA4D	ORPHA:171
HP:0008151	Prolonged prothrombin time	4485	MST1	ORPHA:171
HP:0008151	Prolonged prothrombin time	6925	TCF4	ORPHA:171
HP:0008151	Prolonged prothrombin time	100131801	PET100	OMIM:619055
HP:0008151	Prolonged prothrombin time	125988	MICOS13	OMIM:618329
HP:0008151	Prolonged prothrombin time	5236	PGM1	OMIM:614921
HP:0008151	Prolonged prothrombin time	2147	F2	OMIM:613679
HP:0008151	Prolonged prothrombin time	2147	F2	ORPHA:325
HP:0008151	Prolonged prothrombin time	3117	HLA-DQA1	OMIM:212750
HP:0008151	Prolonged prothrombin time	3119	HLA-DQB1	OMIM:212750
HP:0008151	Prolonged prothrombin time	2184	FAH	OMIM:276700
HP:0008151	Prolonged prothrombin time	10020	GNE	ORPHA:3166
HP:0008151	Prolonged prothrombin time	79087	ALG12	ORPHA:79324
HP:0008151	Prolonged prothrombin time	2155	F7	ORPHA:327
HP:0008151	Prolonged prothrombin time	4547	MTTP	ORPHA:14
HP:0008151	Prolonged prothrombin time	191	AHCY	ORPHA:88618
HP:0008151	Prolonged prothrombin time	81570	CLPB	OMIM:616271
HP:0008151	Prolonged prothrombin time	9971	NR1H4	OMIM:617049
HP:0008151	Prolonged prothrombin time	84342	COG8	ORPHA:95428
HP:0008151	Prolonged prothrombin time	6655	SOS2	OMIM:616559
HP:0008151	Prolonged prothrombin time	28976	ACAD9	ORPHA:99901
HP:0008151	Prolonged prothrombin time	5373	PMM2	OMIM:212065
HP:0012202	Increased serum bile acid concentration	9414	TJP2	OMIM:607748
HP:0012202	Increased serum bile acid concentration	10165	SLC25A13	OMIM:605814
HP:0012202	Increased serum bile acid concentration	6888	TALDO1	ORPHA:101028
HP:0012202	Increased serum bile acid concentration	6554	SLC10A1	OMIM:619256
HP:0012202	Increased serum bile acid concentration	55610	VPS50	OMIM:619685
HP:0012202	Increased serum bile acid concentration	55898	UNC45A	OMIM:619377
HP:0012202	Increased serum bile acid concentration	6514	SLC2A2	OMIM:227810
HP:0012202	Increased serum bile acid concentration	57003	CCDC47	OMIM:618268
HP:0012202	Increased serum bile acid concentration	8482	SEMA7A	OMIM:619874
HP:0012202	Increased serum bile acid concentration	162	AP1B1	OMIM:242150
HP:0012202	Increased serum bile acid concentration	5825	ABCD3	OMIM:616278
HP:0012202	Increased serum bile acid concentration	8647	ABCB11	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	9971	NR1H4	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	113220	KIF12	OMIM:619662
HP:0012202	Increased serum bile acid concentration	4645	MYO5B	OMIM:619868
HP:0012202	Increased serum bile acid concentration	26276	VPS33B	OMIM:620010
HP:0012202	Increased serum bile acid concentration	199221	DZIP1L	ORPHA:731
HP:0012202	Increased serum bile acid concentration	5314	PKHD1	ORPHA:731
HP:0012202	Increased serum bile acid concentration	134218	DNAJC21	ORPHA:811
HP:0012202	Increased serum bile acid concentration	79631	EFL1	ORPHA:811
HP:0012202	Increased serum bile acid concentration	51119	SBDS	ORPHA:811
HP:0012202	Increased serum bile acid concentration	6729	SRP54	ORPHA:811
HP:0012202	Increased serum bile acid concentration	5244	ABCB4	OMIM:614972
HP:0012202	Increased serum bile acid concentration	5205	ATP8B1	OMIM:147480
HP:0012203	Onychomycosis	64170	CARD9	OMIM:212050
HP:0012203	Onychomycosis	3594	IL12RB1	ORPHA:186
HP:0012203	Onychomycosis	23534	TNPO3	ORPHA:186
HP:0012203	Onychomycosis	3592	IL12A	ORPHA:186
HP:0012203	Onychomycosis	6689	SPIB	ORPHA:186
HP:0012203	Onychomycosis	5450	POU2AF1	ORPHA:186
HP:0012203	Onychomycosis	9966	TNFSF15	ORPHA:186
HP:0012203	Onychomycosis	79258	MMEL1	ORPHA:186
HP:0012203	Onychomycosis	3663	IRF5	ORPHA:186
HP:0012203	Onychomycosis	6772	STAT1	OMIM:614162
HP:0012203	Onychomycosis	146206	CARMIL2	OMIM:618131
HP:0012203	Onychomycosis	121214	SDR9C7	OMIM:617574
HP:0012203	Onychomycosis	3848	KRT1	ORPHA:530838
HP:0012203	Onychomycosis	4791	NFKB2	OMIM:615577
HP:0012203	Onychomycosis	79415	CYBC1	OMIM:618935
HP:0012203	Onychomycosis	84818	IL17RC	OMIM:616445
HP:0012203	Onychomycosis	545	ATR	OMIM:614564
HP:0012203	Onychomycosis	10758	TRAF3IP2	OMIM:615527
HP:0012203	Onychomycosis	3248	HPGD	ORPHA:217059
HP:0012203	Onychomycosis	5336	PLCG2	OMIM:614468
HP:0012203	Onychomycosis	64581	CLEC7A	OMIM:613108
HP:0012203	Onychomycosis	81704	DOCK8	ORPHA:217390
HP:0012204	Recurrent vulvovaginal candidiasis	6772	STAT1	OMIM:614162
HP:0012204	Recurrent vulvovaginal candidiasis	64581	CLEC7A	OMIM:613108
HP:0012205	Globozoospermia	340719	NANOS1	ORPHA:399808
HP:0012205	Globozoospermia	84660	CCDC62	OMIM:619803
HP:0012205	Globozoospermia	199720	GGN	OMIM:619826
HP:0012205	Globozoospermia	151254	C2CD6	OMIM:619805
HP:0012205	Globozoospermia	11055	ZPBP	OMIM:619799
HP:0012205	Globozoospermia	283417	DPY19L2	OMIM:613958
HP:0012205	Globozoospermia	83893	SPATA16	OMIM:102530
HP:0012206	Abnormal sperm motility	25981	DNAH1	ORPHA:244
HP:0012206	Abnormal sperm motility	115948	ODAD3	ORPHA:244
HP:0012206	Abnormal sperm motility	54768	HYDIN	ORPHA:244
HP:0012206	Abnormal sperm motility	352909	DNAAF3	ORPHA:244
HP:0012206	Abnormal sperm motility	27148	STK36	ORPHA:244
HP:0012206	Abnormal sperm motility	51314	NME8	ORPHA:244
HP:0012206	Abnormal sperm motility	54970	TTC12	ORPHA:244
HP:0012206	Abnormal sperm motility	152110	NEK10	ORPHA:244
HP:0012206	Abnormal sperm motility	8481	OFD1	ORPHA:244
HP:0012206	Abnormal sperm motility	2302	FOXJ1	ORPHA:244
HP:0012206	Abnormal sperm motility	221421	RSPH9	ORPHA:244
HP:0012206	Abnormal sperm motility	85478	CCDC65	ORPHA:244
HP:0012206	Abnormal sperm motility	55036	CCDC40	ORPHA:244
HP:0012206	Abnormal sperm motility	51364	ZMYND10	ORPHA:244
HP:0012206	Abnormal sperm motility	64446	DNAI2	ORPHA:244
HP:0012206	Abnormal sperm motility	6674	SPAG1	ORPHA:244
HP:0012206	Abnormal sperm motility	83544	DNAL1	ORPHA:244
HP:0012206	Abnormal sperm motility	89765	RSPH1	ORPHA:244
HP:0012206	Abnormal sperm motility	83538	ODAD4	ORPHA:244
HP:0012206	Abnormal sperm motility	200373	CFAP221	ORPHA:244
HP:0012206	Abnormal sperm motility	374407	DNAJB13	ORPHA:244
HP:0012206	Abnormal sperm motility	55172	DNAAF2	ORPHA:244
HP:0012206	Abnormal sperm motility	161582	DNAAF4	ORPHA:244
HP:0012206	Abnormal sperm motility	2622	GAS8	ORPHA:244
HP:0012206	Abnormal sperm motility	23639	DNAAF11	ORPHA:244
HP:0012206	Abnormal sperm motility	27019	DNAI1	ORPHA:244
HP:0012206	Abnormal sperm motility	345895	RSPH4A	ORPHA:244
HP:0012206	Abnormal sperm motility	54919	DNAAF5	ORPHA:244
HP:0012206	Abnormal sperm motility	6103	RPGR	ORPHA:244
HP:0012206	Abnormal sperm motility	388389	CCDC103	ORPHA:244
HP:0012206	Abnormal sperm motility	93233	ODAD1	ORPHA:244
HP:0012206	Abnormal sperm motility	55130	ODAD2	ORPHA:244
HP:0012206	Abnormal sperm motility	1767	DNAH5	ORPHA:244
HP:0012206	Abnormal sperm motility	83861	RSPH3	ORPHA:244
HP:0012206	Abnormal sperm motility	345643	MCIDAS	ORPHA:244
HP:0012206	Abnormal sperm motility	56683	CFAP298	ORPHA:244
HP:0012206	Abnormal sperm motility	79925	SPEF2	ORPHA:244
HP:0012206	Abnormal sperm motility	10309	CCNO	ORPHA:244
HP:0012206	Abnormal sperm motility	115399	LRRC56	ORPHA:244
HP:0012206	Abnormal sperm motility	139212	DNAAF6	ORPHA:244
HP:0012206	Abnormal sperm motility	123872	DNAAF1	ORPHA:244
HP:0012206	Abnormal sperm motility	85016	CFAP300	ORPHA:244
HP:0012206	Abnormal sperm motility	339829	CCDC39	ORPHA:244
HP:0012206	Abnormal sperm motility	8701	DNAH11	ORPHA:244
HP:0012206	Abnormal sperm motility	1770	DNAH9	ORPHA:244
HP:0012206	Abnormal sperm motility	246176	GAS2L2	ORPHA:244
HP:0012206	Abnormal sperm motility	5573	PRKAR1A	ORPHA:1359
HP:0012206	Abnormal sperm motility	50940	PDE11A	ORPHA:1359
HP:0012206	Abnormal sperm motility	146754	DNAH2	OMIM:619094
HP:0012206	Abnormal sperm motility	91057	CCDC34	OMIM:620084
HP:0012206	Abnormal sperm motility	1769	DNAH8	OMIM:619095
HP:0012206	Abnormal sperm motility	51726	DNAJB11	ORPHA:730
HP:0012206	Abnormal sperm motility	23193	GANAB	ORPHA:730
HP:0012206	Abnormal sperm motility	5310	PKD1	ORPHA:730
HP:0012206	Abnormal sperm motility	5311	PKD2	ORPHA:730
HP:0012206	Abnormal sperm motility	29880	ALG5	ORPHA:730
HP:0012206	Abnormal sperm motility	9742	IFT140	ORPHA:730
HP:0012206	Abnormal sperm motility	79796	ALG9	ORPHA:730
HP:0012206	Abnormal sperm motility	80114	BICC1	ORPHA:730
HP:0012206	Abnormal sperm motility	80217	CFAP43	OMIM:617592
HP:0012206	Abnormal sperm motility	375307	CATIP	OMIM:619379
HP:0012206	Abnormal sperm motility	8632	DNAH17	OMIM:618643
HP:0012206	Abnormal sperm motility	6928	HNF1B	OMIM:137920
HP:0012206	Abnormal sperm motility	140732	SUN5	ORPHA:529970
HP:0012206	Abnormal sperm motility	140732	SUN5	OMIM:617187
HP:0012206	Abnormal sperm motility	83449	PMFBP1	ORPHA:529970
HP:0012206	Abnormal sperm motility	89876	CFAP91	OMIM:619177
HP:0012206	Abnormal sperm motility	23568	ARL2BP	OMIM:615434
HP:0012206	Abnormal sperm motility	199223	TTC21A	OMIM:618429
HP:0012206	Abnormal sperm motility	124404	SEPTIN12	OMIM:614822
HP:0012206	Abnormal sperm motility	83894	TTC29	OMIM:618745
HP:0012206	Abnormal sperm motility	755	CFAP410	OMIM:602271
HP:0012206	Abnormal sperm motility	79846	CFAP69	OMIM:617959
HP:0012206	Abnormal sperm motility	200162	SPAG17	OMIM:619380
HP:0012206	Abnormal sperm motility	286464	CFAP47	OMIM:301059
HP:0012206	Abnormal sperm motility	317719	KLHL10	OMIM:615081
HP:0012206	Abnormal sperm motility	116369	SLC26A8	OMIM:606766
HP:0012206	Abnormal sperm motility	84071	ARMC2	OMIM:618433
HP:0012206	Abnormal sperm motility	144406	CFAP251	OMIM:618152
HP:0012206	Abnormal sperm motility	201134	CEP112	OMIM:619044
HP:0012206	Abnormal sperm motility	401024	FSIP2	OMIM:618153
HP:0012206	Abnormal sperm motility	159686	CFAP58	OMIM:619144
HP:0012206	Abnormal sperm motility	122481	AK7	OMIM:617965
HP:0012206	Abnormal sperm motility	676	BRDT	OMIM:617644
HP:0012206	Abnormal sperm motility	5161	PDHA2	OMIM:619828
HP:0012206	Abnormal sperm motility	117155	CATSPER2	OMIM:611102
HP:0012206	Abnormal sperm motility	117155	CATSPER2	OMIM:612997
HP:0012206	Abnormal sperm motility	161497	STRC	OMIM:611102
HP:0012206	Abnormal sperm motility	161497	STRC	OMIM:612997
HP:0012206	Abnormal sperm motility	117144	CATSPER1	OMIM:612997
HP:0012206	Abnormal sperm motility	57704	GBA2	ORPHA:320391
HP:0012206	Abnormal sperm motility	157855	KCNU1	OMIM:620196
HP:0012206	Abnormal sperm motility	6691	SPINK2	OMIM:618091
HP:0012206	Abnormal sperm motility	22873	DZIP1	OMIM:619102
HP:0012206	Abnormal sperm motility	255101	CFAP65	OMIM:618664
HP:0012206	Abnormal sperm motility	118491	CFAP70	OMIM:618670
HP:0012206	Abnormal sperm motility	8556	CDC14A	OMIM:608653
HP:0012206	Abnormal sperm motility	25790	CFAP45	OMIM:619608
HP:0012206	Abnormal sperm motility	140801	RPL10L	OMIM:619689
HP:0012206	Abnormal sperm motility	144132	DNHD1	OMIM:619712
HP:0012206	Abnormal sperm motility	196385	DNAH10	OMIM:619515
HP:0012206	Abnormal sperm motility	57728	WDR19	OMIM:619867
HP:0012206	Abnormal sperm motility	286151	FBXO43	OMIM:619696
HP:0012206	Abnormal sperm motility	92749	DRC1	OMIM:620222
HP:0012206	Abnormal sperm motility	80173	IFT74	OMIM:619585
HP:0012207	Reduced sperm motility	146754	DNAH2	OMIM:619094
HP:0012207	Reduced sperm motility	91057	CCDC34	OMIM:620084
HP:0012207	Reduced sperm motility	1769	DNAH8	OMIM:619095
HP:0012207	Reduced sperm motility	51726	DNAJB11	ORPHA:730
HP:0012207	Reduced sperm motility	23193	GANAB	ORPHA:730
HP:0012207	Reduced sperm motility	5310	PKD1	ORPHA:730
HP:0012207	Reduced sperm motility	5311	PKD2	ORPHA:730
HP:0012207	Reduced sperm motility	29880	ALG5	ORPHA:730
HP:0012207	Reduced sperm motility	9742	IFT140	ORPHA:730
HP:0012207	Reduced sperm motility	79796	ALG9	ORPHA:730
HP:0012207	Reduced sperm motility	80114	BICC1	ORPHA:730
HP:0012207	Reduced sperm motility	80217	CFAP43	OMIM:617592
HP:0012207	Reduced sperm motility	375307	CATIP	OMIM:619379
HP:0012207	Reduced sperm motility	8632	DNAH17	OMIM:618643
HP:0012207	Reduced sperm motility	25981	DNAH1	OMIM:617576
HP:0012207	Reduced sperm motility	6928	HNF1B	OMIM:137920
HP:0012207	Reduced sperm motility	140732	SUN5	ORPHA:529970
HP:0012207	Reduced sperm motility	140732	SUN5	OMIM:617187
HP:0012207	Reduced sperm motility	83449	PMFBP1	ORPHA:529970
HP:0012207	Reduced sperm motility	89876	CFAP91	OMIM:619177
HP:0012207	Reduced sperm motility	23568	ARL2BP	OMIM:615434
HP:0012207	Reduced sperm motility	199223	TTC21A	OMIM:618429
HP:0012207	Reduced sperm motility	124404	SEPTIN12	OMIM:614822
HP:0012207	Reduced sperm motility	27148	STK36	OMIM:619436
HP:0012207	Reduced sperm motility	144132	DNHD1	OMIM:619712
HP:0012207	Reduced sperm motility	196385	DNAH10	OMIM:619515
HP:0012207	Reduced sperm motility	83894	TTC29	OMIM:618745
HP:0012207	Reduced sperm motility	755	CFAP410	OMIM:602271
HP:0012207	Reduced sperm motility	345895	RSPH4A	OMIM:612649
HP:0012207	Reduced sperm motility	79846	CFAP69	OMIM:617959
HP:0012207	Reduced sperm motility	200162	SPAG17	OMIM:619380
HP:0012207	Reduced sperm motility	286464	CFAP47	OMIM:301059
HP:0012207	Reduced sperm motility	317719	KLHL10	OMIM:615081
HP:0012207	Reduced sperm motility	54768	HYDIN	OMIM:608647
HP:0012207	Reduced sperm motility	116369	SLC26A8	OMIM:606766
HP:0012207	Reduced sperm motility	79925	SPEF2	OMIM:618751
HP:0012207	Reduced sperm motility	84071	ARMC2	OMIM:618433
HP:0012207	Reduced sperm motility	144406	CFAP251	OMIM:618152
HP:0012207	Reduced sperm motility	201134	CEP112	OMIM:619044
HP:0012207	Reduced sperm motility	401024	FSIP2	OMIM:618153
HP:0012207	Reduced sperm motility	159686	CFAP58	OMIM:619144
HP:0012207	Reduced sperm motility	56683	CFAP298	OMIM:615500
HP:0012207	Reduced sperm motility	122481	AK7	OMIM:617965
HP:0012207	Reduced sperm motility	221421	RSPH9	OMIM:612650
HP:0012207	Reduced sperm motility	676	BRDT	OMIM:617644
HP:0012207	Reduced sperm motility	51364	ZMYND10	OMIM:615444
HP:0012207	Reduced sperm motility	5161	PDHA2	OMIM:619828
HP:0012207	Reduced sperm motility	117155	CATSPER2	OMIM:611102
HP:0012207	Reduced sperm motility	117155	CATSPER2	OMIM:612997
HP:0012207	Reduced sperm motility	161497	STRC	OMIM:611102
HP:0012207	Reduced sperm motility	161497	STRC	OMIM:612997
HP:0012207	Reduced sperm motility	117144	CATSPER1	OMIM:612997
HP:0012207	Reduced sperm motility	57704	GBA2	ORPHA:320391
HP:0012207	Reduced sperm motility	339829	CCDC39	OMIM:613807
HP:0012207	Reduced sperm motility	157855	KCNU1	OMIM:620196
HP:0012208	Immotile sperm	374407	DNAJB13	OMIM:617091
HP:0012208	Immotile sperm	6691	SPINK2	OMIM:618091
HP:0012208	Immotile sperm	22873	DZIP1	OMIM:619102
HP:0012208	Immotile sperm	255101	CFAP65	OMIM:618664
HP:0012208	Immotile sperm	118491	CFAP70	OMIM:618670
HP:0012208	Immotile sperm	80173	IFT74	OMIM:619585
HP:0012208	Immotile sperm	221421	RSPH9	OMIM:612650
HP:0012208	Immotile sperm	54919	DNAAF5	OMIM:614874
HP:0012208	Immotile sperm	117155	CATSPER2	OMIM:612997
HP:0012208	Immotile sperm	161497	STRC	OMIM:612997
HP:0012208	Immotile sperm	117144	CATSPER1	OMIM:612997
HP:0012208	Immotile sperm	246176	GAS2L2	OMIM:618449
HP:0012208	Immotile sperm	8556	CDC14A	OMIM:608653
HP:0012208	Immotile sperm	55036	CCDC40	OMIM:613808
HP:0012208	Immotile sperm	339829	CCDC39	OMIM:613807
HP:0012209	Juvenile myelomonocytic leukemia	867	CBL	OMIM:613563
HP:0012209	Juvenile myelomonocytic leukemia	867	CBL	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	4893	NRAS	OMIM:613224
HP:0012209	Juvenile myelomonocytic leukemia	3845	KRAS	OMIM:609942
HP:0012209	Juvenile myelomonocytic leukemia	4763	NF1	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	23092	ARHGAP26	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	5781	PTPN11	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	5781	PTPN11	OMIM:163950
HP:0012209	Juvenile myelomonocytic leukemia	5604	MAP2K1	OMIM:163950
HP:0012209	Juvenile myelomonocytic leukemia	673	BRAF	OMIM:163950
HP:0006783	Posterior pharyngeal cleft	23495	TNFRSF13B	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	4790	NFKB1	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	4791	NFKB2	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	115650	TNFRSF13C	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	1380	CR2	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	8742	TNFSF12	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	5580	PRKCD	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	930	CD19	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	29851	ICOS	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	931	MS4A1	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	975	CD81	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	359948	IRF2BP2	ORPHA:1572
HP:0006783	Posterior pharyngeal cleft	4281	MID1	OMIM:300000
HP:0006784	Paranasal sinus hypoplasia	139285	AMER1	OMIM:300373
HP:0006784	Paranasal sinus hypoplasia	23347	SMCHD1	OMIM:603457
HP:0000764	Peripheral axonal degeneration	54902	TTC19	OMIM:615157
HP:0000764	Peripheral axonal degeneration	7879	RAB7A	OMIM:600882
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607736
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607677
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607791
HP:0000764	Peripheral axonal degeneration	9927	MFN2	OMIM:609260
HP:0000764	Peripheral axonal degeneration	9927	MFN2	OMIM:601152
HP:0000764	Peripheral axonal degeneration	54332	GDAP1	OMIM:607706
HP:0000764	Peripheral axonal degeneration	4000	LMNA	OMIM:605588
HP:0000764	Peripheral axonal degeneration	90678	LRSAM1	OMIM:614436
HP:0000764	Peripheral axonal degeneration	23095	KIF1B	OMIM:118210
HP:0000764	Peripheral axonal degeneration	9990	SLC12A6	OMIM:218000
HP:0000764	Peripheral axonal degeneration	8729	GBF1	OMIM:606483
HP:0000764	Peripheral axonal degeneration	23646	PLD3	OMIM:617770
HP:0000764	Peripheral axonal degeneration	4744	NEFH	OMIM:616924
HP:0000764	Peripheral axonal degeneration	2259	FGF14	ORPHA:98764
HP:0000764	Peripheral axonal degeneration	57165	GJC2	OMIM:608804
HP:0000764	Peripheral axonal degeneration	7084	TK2	ORPHA:254886
HP:0000764	Peripheral axonal degeneration	3074	HEXB	ORPHA:309169
HP:0000764	Peripheral axonal degeneration	6472	SHMT2	OMIM:619121
HP:0000764	Peripheral axonal degeneration	63895	PIEZO2	OMIM:617146
HP:0000764	Peripheral axonal degeneration	219285	SAMD9L	OMIM:619806
HP:0000764	Peripheral axonal degeneration	51	ACOX1	OMIM:618960
HP:0000764	Peripheral axonal degeneration	116228	COX20	OMIM:619054
HP:0000764	Peripheral axonal degeneration	7518	XRCC4	OMIM:616541
HP:0000764	Peripheral axonal degeneration	1509	CTSD	OMIM:610127
HP:0000764	Peripheral axonal degeneration	823	CAPN1	OMIM:616907
HP:0000764	Peripheral axonal degeneration	8449	DHX16	OMIM:618733
HP:0000764	Peripheral axonal degeneration	144165	PRICKLE1	OMIM:612437
HP:0000764	Peripheral axonal degeneration	2395	FXN	ORPHA:95
HP:0000764	Peripheral axonal degeneration	54936	ADPRS	OMIM:618170
HP:0000764	Peripheral axonal degeneration	10397	NDRG1	OMIM:601455
HP:0000764	Peripheral axonal degeneration	5376	PMP22	OMIM:118300
HP:0000764	Peripheral axonal degeneration	7305	TYROBP	OMIM:221770
HP:0000764	Peripheral axonal degeneration	6834	SURF1	OMIM:616684
HP:0000764	Peripheral axonal degeneration	29978	UBQLN2	OMIM:300857
HP:0000764	Peripheral axonal degeneration	7343	UBTF	OMIM:617672
HP:0000764	Peripheral axonal degeneration	64423	INF2	OMIM:614455
HP:0000764	Peripheral axonal degeneration	4337	MOCS1	OMIM:252150
HP:0000764	Peripheral axonal degeneration	5981	RFC1	OMIM:614575
HP:0000764	Peripheral axonal degeneration	4338	MOCS2	OMIM:252160
HP:0000764	Peripheral axonal degeneration	9896	FIG4	OMIM:611228
HP:0000764	Peripheral axonal degeneration	9531	BAG3	OMIM:612954
HP:0000764	Peripheral axonal degeneration	55768	NGLY1	ORPHA:404454
HP:0000764	Peripheral axonal degeneration	56704	JPH1	OMIM:607831
HP:0000764	Peripheral axonal degeneration	59345	GNB4	OMIM:615185
HP:0000764	Peripheral axonal degeneration	8565	YARS1	OMIM:608323
HP:0000764	Peripheral axonal degeneration	291	SLC25A4	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	5428	POLG	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	5428	POLG	ORPHA:298
HP:0000764	Peripheral axonal degeneration	5428	POLG	OMIM:607459
HP:0000764	Peripheral axonal degeneration	56652	TWNK	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	56652	TWNK	OMIM:607459
HP:0000764	Peripheral axonal degeneration	11232	POLG2	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	11232	POLG2	OMIM:619425
HP:0000764	Peripheral axonal degeneration	50484	RRM2B	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	50484	RRM2B	ORPHA:298
HP:0000764	Peripheral axonal degeneration	9488	PIGB	OMIM:618580
HP:0000764	Peripheral axonal degeneration	4141	MARS1	OMIM:616280
HP:0000764	Peripheral axonal degeneration	4558	MT-TF	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4572	MT-TQ	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4512	MT-CO1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4513	MT-CO2	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4514	MT-CO3	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4578	MT-TW	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4540	MT-ND5	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4541	MT-ND6	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4535	MT-ND1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4538	MT-ND4	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4567	MT-TL1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4574	MT-TS1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4575	MT-TS2	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4564	MT-TH	ORPHA:550
HP:0000764	Peripheral axonal degeneration	23769	FLRT1	ORPHA:320406
HP:0000764	Peripheral axonal degeneration	64837	KLC2	ORPHA:320406
HP:0000764	Peripheral axonal degeneration	91574	MTRFR	ORPHA:254930
HP:0000764	Peripheral axonal degeneration	91574	MTRFR	OMIM:615035
HP:0000764	Peripheral axonal degeneration	1161	ERCC8	ORPHA:90324
HP:0000764	Peripheral axonal degeneration	2074	ERCC6	ORPHA:90324
HP:0000764	Peripheral axonal degeneration	80821	DDHD1	OMIM:609340
HP:0000764	Peripheral axonal degeneration	50717	DCAF8	OMIM:610100
HP:0000764	Peripheral axonal degeneration	57704	GBA2	ORPHA:352641
HP:0000764	Peripheral axonal degeneration	57704	GBA2	ORPHA:320391
HP:0000764	Peripheral axonal degeneration	673	BRAF	OMIM:115150
HP:0000764	Peripheral axonal degeneration	19	ABCA1	OMIM:205400
HP:0000764	Peripheral axonal degeneration	19	ABCA1	ORPHA:31150
HP:0000764	Peripheral axonal degeneration	4508	MT-ATP6	ORPHA:320360
HP:0000764	Peripheral axonal degeneration	4747	NEFL	ORPHA:99939
HP:0000764	Peripheral axonal degeneration	5361	PLXNA1	OMIM:619955
HP:0000764	Peripheral axonal degeneration	23345	SYNE1	OMIM:610743
HP:0000764	Peripheral axonal degeneration	10516	FBLN5	OMIM:608895
HP:0000764	Peripheral axonal degeneration	274	BIN1	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	64419	MTMR14	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	4618	MYF6	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	1785	DNM2	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	6261	RYR1	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	59341	TRPV4	OMIM:156530
HP:0000764	Peripheral axonal degeneration	200205	IBA57	ORPHA:468661
HP:0000764	Peripheral axonal degeneration	200205	IBA57	OMIM:616451
HP:0000764	Peripheral axonal degeneration	55187	VPS13D	OMIM:607317
HP:0000764	Peripheral axonal degeneration	81790	RNF170	OMIM:619686
HP:0000764	Peripheral axonal degeneration	478	ATP1A3	OMIM:601338
HP:0000764	Peripheral axonal degeneration	55182	RNF220	OMIM:619688
HP:0000764	Peripheral axonal degeneration	6905	TBCE	ORPHA:496756
HP:0000764	Peripheral axonal degeneration	6905	TBCE	OMIM:617207
HP:0000764	Peripheral axonal degeneration	547	KIF1A	OMIM:610357
HP:0000764	Peripheral axonal degeneration	547	KIF1A	OMIM:614255
HP:0000764	Peripheral axonal degeneration	10908	PNPLA6	OMIM:275400
HP:0000764	Peripheral axonal degeneration	5660	PSAP	OMIM:611722
HP:0000764	Peripheral axonal degeneration	271	AMPD2	OMIM:615809
HP:0000764	Peripheral axonal degeneration	3767	KCNJ11	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	6774	STAT3	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	2645	GCK	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	3651	PDX1	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	6833	ABCC8	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	3630	INS	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	1890	TYMP	ORPHA:298
HP:0000764	Peripheral axonal degeneration	3980	LIG3	ORPHA:298
HP:0000764	Peripheral axonal degeneration	8888	MCM3AP	OMIM:618124
HP:0000764	Peripheral axonal degeneration	23250	ATP11A	OMIM:619851
HP:0000764	Peripheral axonal degeneration	23321	TRIM2	OMIM:615490
HP:0000764	Peripheral axonal degeneration	4358	MPV17	OMIM:618400
HP:0000764	Peripheral axonal degeneration	10381	TUBB3	OMIM:600638
HP:0000764	Peripheral axonal degeneration	215	ABCD1	ORPHA:139396
HP:0000764	Peripheral axonal degeneration	79628	SH3TC2	OMIM:613353
HP:0000764	Peripheral axonal degeneration	1778	DYNC1H1	OMIM:614563
HP:0000764	Peripheral axonal degeneration	55157	DARS2	ORPHA:137898
HP:0000764	Peripheral axonal degeneration	55157	DARS2	OMIM:611105
HP:0000764	Peripheral axonal degeneration	91137	SLC25A46	OMIM:616505
HP:0000764	Peripheral axonal degeneration	91137	SLC25A46	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	54463	RETREG1	OMIM:613115
HP:0000764	Peripheral axonal degeneration	51008	ASCC1	OMIM:616867
HP:0000764	Peripheral axonal degeneration	9325	TRIP4	OMIM:616866
HP:0000764	Peripheral axonal degeneration	8398	PLA2G6	ORPHA:35069
HP:0000764	Peripheral axonal degeneration	5351	PLOD1	ORPHA:1900
HP:0000764	Peripheral axonal degeneration	10939	AFG3L2	ORPHA:313772
HP:0000764	Peripheral axonal degeneration	7276	TTR	OMIM:105210
HP:0000764	Peripheral axonal degeneration	2632	GBE1	OMIM:263570
HP:0000764	Peripheral axonal degeneration	10367	MICU1	ORPHA:401768
HP:0000764	Peripheral axonal degeneration	10367	MICU1	OMIM:615673
HP:0000764	Peripheral axonal degeneration	23400	ATP13A2	ORPHA:513436
HP:0000764	Peripheral axonal degeneration	23400	ATP13A2	OMIM:617225
HP:0000764	Peripheral axonal degeneration	2064	ERBB2	OMIM:619465
HP:0000764	Peripheral axonal degeneration	80208	SPG11	ORPHA:2822
HP:0000764	Peripheral axonal degeneration	80208	SPG11	OMIM:616668
HP:0000764	Peripheral axonal degeneration	55775	TDP1	OMIM:607250
HP:0000764	Peripheral axonal degeneration	23230	VPS13A	ORPHA:2388
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	OMIM:618810
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	ORPHA:496790
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	OMIM:617183
HP:0000764	Peripheral axonal degeneration	2783	GNB2	OMIM:619503
HP:0000764	Peripheral axonal degeneration	3475	IFRD1	ORPHA:98771
HP:0000764	Peripheral axonal degeneration	3735	KARS1	OMIM:619196
HP:0000764	Peripheral axonal degeneration	113612	CYP2U1	OMIM:615030
HP:0000764	Peripheral axonal degeneration	113612	CYP2U1	ORPHA:320411
HP:0000764	Peripheral axonal degeneration	65260	COA7	OMIM:618387
HP:0000764	Peripheral axonal degeneration	7415	VCP	ORPHA:435387
HP:0000764	Peripheral axonal degeneration	3845	KRAS	OMIM:615278
HP:0000764	Peripheral axonal degeneration	11340	EXOSC8	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	5393	EXOSC9	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	23287	AGTPBP1	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	51010	EXOSC3	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	7443	VRK1	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	4287	ATXN3	ORPHA:276244
HP:0000764	Peripheral axonal degeneration	60481	ELOVL5	OMIM:615957
HP:0000764	Peripheral axonal degeneration	7345	UCHL1	OMIM:620221
HP:0000764	Peripheral axonal degeneration	23503	ZFYVE26	OMIM:270700
HP:0000764	Peripheral axonal degeneration	23503	ZFYVE26	ORPHA:100996
HP:0000764	Peripheral axonal degeneration	4311	MME	ORPHA:497764
HP:0000764	Peripheral axonal degeneration	3766	KCNJ10	ORPHA:199343
HP:0000764	Peripheral axonal degeneration	55958	KLHL9	ORPHA:399081
HP:0000764	Peripheral axonal degeneration	6785	ELOVL4	OMIM:133190
HP:0000764	Peripheral axonal degeneration	51062	ATL1	OMIM:613708
HP:0000764	Peripheral axonal degeneration	80347	COASY	ORPHA:397725
HP:0000764	Peripheral axonal degeneration	22880	MORC2	OMIM:619090
HP:0000764	Peripheral axonal degeneration	1716	DGUOK	OMIM:617070
HP:0000764	Peripheral axonal degeneration	9147	NEMF	OMIM:619099
HP:0000764	Peripheral axonal degeneration	2733	GLE1	OMIM:611890
HP:0000764	Peripheral axonal degeneration	60386	SLC25A19	OMIM:613710
HP:0000764	Peripheral axonal degeneration	23533	PIK3R5	OMIM:615217
HP:0000764	Peripheral axonal degeneration	57731	SPTBN4	OMIM:617519
HP:0000764	Peripheral axonal degeneration	5832	ALDH18A1	ORPHA:447757
HP:0000764	Peripheral axonal degeneration	4556	MT-TE	ORPHA:2596
HP:0000764	Peripheral axonal degeneration	710	SERPING1	OMIM:106100
HP:0000764	Peripheral axonal degeneration	26353	HSPB8	OMIM:608673
HP:0000764	Peripheral axonal degeneration	4668	NAGA	OMIM:609242
HP:0000764	Peripheral axonal degeneration	3098	HK1	ORPHA:99953
HP:0000764	Peripheral axonal degeneration	5631	PRPS1	OMIM:300661
HP:0000764	Peripheral axonal degeneration	3798	KIF5A	ORPHA:100991
HP:0000764	Peripheral axonal degeneration	27072	VPS41	OMIM:619389
HP:0000764	Peripheral axonal degeneration	7466	WFS1	ORPHA:411590
HP:0000764	Peripheral axonal degeneration	22948	CCT5	OMIM:256840
HP:0000764	Peripheral axonal degeneration	16	AARS1	OMIM:613287
HP:0000764	Peripheral axonal degeneration	23064	SETX	OMIM:606002
HP:0000764	Peripheral axonal degeneration	3315	HSPB1	ORPHA:99940
HP:0000764	Peripheral axonal degeneration	65055	REEP1	OMIM:620011
HP:0000764	Peripheral axonal degeneration	6904	TBCD	ORPHA:496641
HP:0000764	Peripheral axonal degeneration	3094	HINT1	ORPHA:324442
HP:0000764	Peripheral axonal degeneration	64856	VWA1	OMIM:619216
HP:0000764	Peripheral axonal degeneration	3839	KPNA3	OMIM:620106
HP:0000764	Peripheral axonal degeneration	29926	GMPPA	ORPHA:869
HP:0000764	Peripheral axonal degeneration	60684	TRAPPC11	ORPHA:869
HP:0000764	Peripheral axonal degeneration	8086	AAAS	ORPHA:869
HP:0000764	Peripheral axonal degeneration	8086	AAAS	OMIM:231550
HP:0000764	Peripheral axonal degeneration	25894	PLEKHG4	ORPHA:98765
HP:0000764	Peripheral axonal degeneration	8139	GAN	OMIM:256850
HP:0000764	Peripheral axonal degeneration	57599	WDR48	ORPHA:401800
HP:0000764	Peripheral axonal degeneration	6687	SPG7	ORPHA:35689
HP:0000764	Peripheral axonal degeneration	7504	XK	OMIM:300842
HP:0000764	Peripheral axonal degeneration	83636	C19orf12	OMIM:614298
HP:0000764	Peripheral axonal degeneration	51305	KCNK9	ORPHA:166108
HP:0000764	Peripheral axonal degeneration	7453	WARS1	OMIM:617721
HP:0000764	Peripheral axonal degeneration	5192	PEX10	OMIM:614871
HP:0000764	Peripheral axonal degeneration	5192	PEX10	ORPHA:247815
HP:0000764	Peripheral axonal degeneration	9131	AIFM1	OMIM:310490
HP:0000764	Peripheral axonal degeneration	3035	HARS1	ORPHA:488333
HP:0000764	Peripheral axonal degeneration	3145	HMBS	ORPHA:79276
HP:0000764	Peripheral axonal degeneration	3178	HNRNPA1	ORPHA:52430
HP:0000764	Peripheral axonal degeneration	3181	HNRNPA2B1	ORPHA:52430
HP:0000764	Peripheral axonal degeneration	4976	OPA1	ORPHA:1215
HP:0000764	Peripheral axonal degeneration	10558	SPTLC1	ORPHA:36386
HP:0000764	Peripheral axonal degeneration	25923	ATL3	ORPHA:36386
HP:0000764	Peripheral axonal degeneration	9517	SPTLC2	ORPHA:36386
HP:0000764	Peripheral axonal degeneration	84342	COG8	ORPHA:95428
HP:0000764	Peripheral axonal degeneration	10801	SEPTIN9	OMIM:162100
HP:0000764	Peripheral axonal degeneration	28982	FLVCR1	ORPHA:88628
HP:0000764	Peripheral axonal degeneration	1593	CYP27A1	ORPHA:909
HP:0000764	Peripheral axonal degeneration	9150	CTDP1	OMIM:604168
HP:0000764	Peripheral axonal degeneration	25828	TXN2	ORPHA:478029
HP:0000764	Peripheral axonal degeneration	25828	TXN2	OMIM:616811
HP:0000764	Peripheral axonal degeneration	2705	GJB1	OMIM:302800
HP:0000764	Peripheral axonal degeneration	3508	IGHMBP2	OMIM:616155
HP:0000764	Peripheral axonal degeneration	3508	IGHMBP2	OMIM:604320
HP:0000764	Peripheral axonal degeneration	3908	LAMA2	OMIM:618138
HP:0000764	Peripheral axonal degeneration	54840	APTX	OMIM:208920
HP:0000764	Peripheral axonal degeneration	89874	SLC25A21	OMIM:618811
HP:0000764	Peripheral axonal degeneration	10342	TFG	OMIM:604484
HP:0001270	Motor delay	2137	EXTL3	ORPHA:508533
HP:0001270	Motor delay	2137	EXTL3	OMIM:617425
HP:0001270	Motor delay	29899	GPSM2	OMIM:604213
HP:0001270	Motor delay	2673	GFPT1	OMIM:608931
HP:0001270	Motor delay	2673	GFPT1	OMIM:610542
HP:0001270	Motor delay	2673	GFPT1	ORPHA:353327
HP:0001270	Motor delay	8367	H4C5	OMIM:619950
HP:0001270	Motor delay	91452	ACBD5	OMIM:618863
HP:0001270	Motor delay	29925	GMPPB	OMIM:615351
HP:0001270	Motor delay	29925	GMPPB	OMIM:615352
HP:0001270	Motor delay	29925	GMPPB	ORPHA:370968
HP:0001270	Motor delay	29925	GMPPB	ORPHA:353327
HP:0001270	Motor delay	4750	NEK1	OMIM:263520
HP:0001270	Motor delay	2132	EXT2	OMIM:616682
HP:0001270	Motor delay	54101	RIPK4	ORPHA:1401
HP:0001270	Motor delay	23135	KDM6B	OMIM:618505
HP:0001270	Motor delay	1024	CDK8	OMIM:618748
HP:0001270	Motor delay	10054	UBA2	OMIM:619959
HP:0001270	Motor delay	4919	ROR1	OMIM:617654
HP:0001270	Motor delay	10059	DNM1L	OMIM:614388
HP:0001270	Motor delay	6228	RPS23	OMIM:617412
HP:0001270	Motor delay	4897	NRCAM	OMIM:619833
HP:0001270	Motor delay	26040	SETBP1	ORPHA:436151
HP:0001270	Motor delay	26040	SETBP1	OMIM:616078
HP:0001270	Motor delay	22800	RRAS2	OMIM:618624
HP:0001270	Motor delay	84334	COA8	ORPHA:436271
HP:0001270	Motor delay	3703	STT3A	OMIM:619714
HP:0001270	Motor delay	10159	ATP6AP2	ORPHA:93952
HP:0001270	Motor delay	10159	ATP6AP2	OMIM:300423
HP:0001270	Motor delay	4125	MAN2B1	ORPHA:309282
HP:0001270	Motor delay	3481	IGF2	ORPHA:231140
HP:0001270	Motor delay	3481	IGF2	ORPHA:231144
HP:0001270	Motor delay	3481	IGF2	OMIM:616489
HP:0001270	Motor delay	3481	IGF2	ORPHA:397590
HP:0001270	Motor delay	283120	H19	ORPHA:231140
HP:0001270	Motor delay	283120	H19	ORPHA:231144
HP:0001270	Motor delay	116931	MED12L	OMIM:618872
HP:0001270	Motor delay	10300	KATNB1	OMIM:616212
HP:0001270	Motor delay	7552	ZNF711	OMIM:300803
HP:0001270	Motor delay	4141	MARS1	OMIM:615486
HP:0001270	Motor delay	55790	CSGALNACT1	OMIM:618870
HP:0001270	Motor delay	80155	NAA15	OMIM:617787
HP:0001270	Motor delay	65082	VPS33A	OMIM:617303
HP:0001270	Motor delay	84466	MEGF10	OMIM:614399
HP:0001270	Motor delay	10730	YME1L1	OMIM:617302
HP:0001270	Motor delay	2201	FBN2	OMIM:121050
HP:0001270	Motor delay	9200	HACD1	OMIM:619967
HP:0001270	Motor delay	9200	HACD1	ORPHA:2020
HP:0001270	Motor delay	3781	KCNN2	OMIM:619725
HP:0001270	Motor delay	284403	WDR62	OMIM:604317
HP:0001270	Motor delay	6660	SOX5	ORPHA:313892
HP:0001270	Motor delay	7054	TH	OMIM:605407
HP:0001270	Motor delay	7054	TH	ORPHA:101150
HP:0001270	Motor delay	8575	PRKRA	ORPHA:210571
HP:0001270	Motor delay	8575	PRKRA	OMIM:612067
HP:0001270	Motor delay	55154	MSTO1	OMIM:617675
HP:0001270	Motor delay	55154	MSTO1	ORPHA:502423
HP:0001270	Motor delay	64834	ELOVL1	OMIM:618527
HP:0001270	Motor delay	9581	PREPL	OMIM:616224
HP:0001270	Motor delay	51319	RSRC1	OMIM:618402
HP:0001270	Motor delay	55699	IARS2	ORPHA:436174
HP:0001270	Motor delay	55699	IARS2	OMIM:616007
HP:0001270	Motor delay	85365	ALG2	OMIM:616228
HP:0001270	Motor delay	85365	ALG2	OMIM:607906
HP:0001270	Motor delay	85365	ALG2	ORPHA:353327
HP:0001270	Motor delay	54332	GDAP1	ORPHA:101097
HP:0001270	Motor delay	54332	GDAP1	OMIM:214400
HP:0001270	Motor delay	54332	GDAP1	ORPHA:99948
HP:0001270	Motor delay	54332	GDAP1	ORPHA:99944
HP:0001270	Motor delay	157680	VPS13B	OMIM:216550
HP:0001270	Motor delay	1289	COL5A1	ORPHA:287
HP:0001270	Motor delay	1290	COL5A2	ORPHA:287
HP:0001270	Motor delay	9401	RECQL4	OMIM:218600
HP:0001270	Motor delay	84504	NKX6-2	OMIM:617560
HP:0001270	Motor delay	283987	HID1	OMIM:619983
HP:0001270	Motor delay	4330	MN1	OMIM:618774
HP:0001270	Motor delay	1594	CYP27B1	OMIM:264700
HP:0001270	Motor delay	1594	CYP27B1	ORPHA:289157
HP:0001270	Motor delay	7386	UQCRFS1	OMIM:618775
HP:0001270	Motor delay	6712	SPTBN2	OMIM:615386
HP:0001270	Motor delay	23312	DMXL2	OMIM:616113
HP:0001270	Motor delay	84314	TMEM107	OMIM:617563
HP:0001270	Motor delay	57178	ZMIZ1	OMIM:618659
HP:0001270	Motor delay	4632	MYL1	OMIM:618414
HP:0001270	Motor delay	26057	ANKRD17	OMIM:619504
HP:0001270	Motor delay	492	ATP2B3	ORPHA:314978
HP:0001270	Motor delay	492	ATP2B3	OMIM:302500
HP:0001270	Motor delay	4747	NEFL	ORPHA:101085
HP:0001270	Motor delay	4747	NEFL	ORPHA:99939
HP:0001270	Motor delay	4747	NEFL	OMIM:607684
HP:0001270	Motor delay	4747	NEFL	OMIM:607734
HP:0001270	Motor delay	4747	NEFL	OMIM:617882
HP:0001270	Motor delay	54	ACP5	ORPHA:1855
HP:0001270	Motor delay	26154	ABCA12	OMIM:242500
HP:0001270	Motor delay	11285	B4GALT7	OMIM:130070
HP:0001270	Motor delay	3572	IL6ST	OMIM:619751
HP:0001270	Motor delay	26038	CHD5	OMIM:619873
HP:0001270	Motor delay	2911	GRM1	OMIM:617691
HP:0001270	Motor delay	54880	BCOR	OMIM:309800
HP:0001270	Motor delay	54880	BCOR	OMIM:300166
HP:0001270	Motor delay	23126	POGZ	OMIM:616364
HP:0001270	Motor delay	57680	CHD8	OMIM:615032
HP:0001270	Motor delay	120227	CYP2R1	ORPHA:289157
HP:0001270	Motor delay	9453	GGPS1	OMIM:619518
HP:0001270	Motor delay	9841	ZBTB24	OMIM:614069
HP:0001270	Motor delay	51692	CPSF3	OMIM:619876
HP:0001270	Motor delay	58	ACTA1	OMIM:161800
HP:0001270	Motor delay	58	ACTA1	ORPHA:171433
HP:0001270	Motor delay	58	ACTA1	ORPHA:171430
HP:0001270	Motor delay	58	ACTA1	ORPHA:2020
HP:0001270	Motor delay	58	ACTA1	ORPHA:171439
HP:0001270	Motor delay	1859	DYRK1A	ORPHA:464311
HP:0001270	Motor delay	9289	ADGRG1	ORPHA:101070
HP:0001270	Motor delay	9289	ADGRG1	OMIM:615752
HP:0001270	Motor delay	8898	MTMR2	OMIM:601382
HP:0001270	Motor delay	8314	BAP1	OMIM:619762
HP:0001270	Motor delay	1615	DARS1	OMIM:615281
HP:0001270	Motor delay	253959	RALGAPA1	OMIM:618797
HP:0001270	Motor delay	51098	IFT52	OMIM:617102
HP:0001270	Motor delay	59336	PRDM13	OMIM:619761
HP:0001270	Motor delay	59336	PRDM13	OMIM:619909
HP:0001270	Motor delay	56947	MFF	ORPHA:485421
HP:0001270	Motor delay	56947	MFF	OMIM:617086
HP:0001270	Motor delay	2558	GABRA5	OMIM:618559
HP:0001270	Motor delay	51341	ZBTB7A	OMIM:619769
HP:0001270	Motor delay	6901	TAFAZZIN	OMIM:302060
HP:0001270	Motor delay	9968	MED12	OMIM:305450
HP:0001270	Motor delay	6925	TCF4	OMIM:610954
HP:0001270	Motor delay	124583	CANT1	OMIM:251450
HP:0001270	Motor delay	38	ACAT1	ORPHA:134
HP:0001270	Motor delay	487	ATP2A1	OMIM:601003
HP:0001270	Motor delay	57724	EPG5	OMIM:242840
HP:0001270	Motor delay	23299	BICD2	OMIM:615290
HP:0001270	Motor delay	23299	BICD2	OMIM:618291
HP:0001270	Motor delay	23299	BICD2	ORPHA:363454
HP:0001270	Motor delay	51651	PTRH2	OMIM:616263
HP:0001270	Motor delay	51651	PTRH2	ORPHA:456312
HP:0001270	Motor delay	7143	TNR	OMIM:619653
HP:0001270	Motor delay	3978	LIG1	OMIM:619774
HP:0001270	Motor delay	6843	VAMP1	OMIM:618323
HP:0001270	Motor delay	6843	VAMP1	ORPHA:98914
HP:0001270	Motor delay	5917	RARS1	OMIM:616140
HP:0001270	Motor delay	4123	MAN2C1	OMIM:619775
HP:0001270	Motor delay	54941	RNF125	OMIM:616260
HP:0001270	Motor delay	259232	NALCN	OMIM:616266
HP:0001270	Motor delay	259232	NALCN	ORPHA:371364
HP:0001270	Motor delay	57479	PRR12	OMIM:619539
HP:0001270	Motor delay	84168	ANTXR1	OMIM:230740
HP:0001270	Motor delay	2006	ELN	ORPHA:90348
HP:0001270	Motor delay	10516	FBLN5	ORPHA:90348
HP:0001270	Motor delay	10516	FBLN5	ORPHA:90349
HP:0001270	Motor delay	5832	ALDH18A1	ORPHA:90348
HP:0001270	Motor delay	5832	ALDH18A1	ORPHA:447760
HP:0001270	Motor delay	4052	LTBP1	ORPHA:90349
HP:0001270	Motor delay	30008	EFEMP2	ORPHA:90349
HP:0001270	Motor delay	374969	SVBP	OMIM:618569
HP:0001270	Motor delay	51062	ATL1	OMIM:182600
HP:0001270	Motor delay	51062	ATL1	ORPHA:100984
HP:0001270	Motor delay	51322	WAC	ORPHA:466950
HP:0001270	Motor delay	51322	WAC	ORPHA:284169
HP:0001270	Motor delay	5836	PYGL	ORPHA:369
HP:0001270	Motor delay	79628	SH3TC2	OMIM:601596
HP:0001270	Motor delay	25970	SH2B1	ORPHA:261197
HP:0001270	Motor delay	57505	AARS2	OMIM:614096
HP:0001270	Motor delay	51645	PPIL1	OMIM:619301
HP:0001270	Motor delay	1523	CUX1	OMIM:618330
HP:0001270	Motor delay	55151	TMEM38B	OMIM:615066
HP:0001270	Motor delay	93587	TRMT10A	OMIM:616033
HP:0001270	Motor delay	5081	PAX7	OMIM:618578
HP:0001270	Motor delay	389827	MYMK	OMIM:254940
HP:0001270	Motor delay	7080	NKX2-1	OMIM:610978
HP:0001270	Motor delay	7080	NKX2-1	ORPHA:209905
HP:0001270	Motor delay	7080	NKX2-1	OMIM:118700
HP:0001270	Motor delay	59341	TRPV4	OMIM:181405
HP:0001270	Motor delay	5813	PURA	ORPHA:314655
HP:0001270	Motor delay	54808	DYM	ORPHA:239
HP:0001270	Motor delay	3480	IGF1R	ORPHA:73273
HP:0001270	Motor delay	3480	IGF1R	OMIM:270450
HP:0001270	Motor delay	3479	IGF1	ORPHA:73272
HP:0001270	Motor delay	3479	IGF1	OMIM:608747
HP:0001270	Motor delay	9361	LONP1	OMIM:600373
HP:0001270	Motor delay	4921	DDR2	OMIM:271665
HP:0001270	Motor delay	57526	PCDH19	ORPHA:101039
HP:0001270	Motor delay	3912	LAMB1	OMIM:615191
HP:0001270	Motor delay	23111	SPART	OMIM:275900
HP:0001270	Motor delay	23111	SPART	ORPHA:101000
HP:0001270	Motor delay	4558	MT-TF	ORPHA:550
HP:0001270	Motor delay	4572	MT-TQ	ORPHA:550
HP:0001270	Motor delay	4512	MT-CO1	ORPHA:550
HP:0001270	Motor delay	4513	MT-CO2	ORPHA:550
HP:0001270	Motor delay	4514	MT-CO3	ORPHA:550
HP:0001270	Motor delay	4578	MT-TW	ORPHA:550
HP:0001270	Motor delay	4540	MT-ND5	ORPHA:550
HP:0001270	Motor delay	4541	MT-ND6	ORPHA:550
HP:0001270	Motor delay	4535	MT-ND1	ORPHA:550
HP:0001270	Motor delay	4538	MT-ND4	ORPHA:550
HP:0001270	Motor delay	4567	MT-TL1	ORPHA:550
HP:0001270	Motor delay	4574	MT-TS1	ORPHA:550
HP:0001270	Motor delay	4574	MT-TS1	OMIM:220110
HP:0001270	Motor delay	4575	MT-TS2	ORPHA:550
HP:0001270	Motor delay	4564	MT-TH	ORPHA:550
HP:0001270	Motor delay	10466	COG5	ORPHA:263487
HP:0001270	Motor delay	10466	COG5	OMIM:613612
HP:0001270	Motor delay	23013	SPEN	OMIM:619312
HP:0001270	Motor delay	1291	COL6A1	OMIM:254090
HP:0001270	Motor delay	1291	COL6A1	OMIM:158810
HP:0001270	Motor delay	1292	COL6A2	OMIM:254090
HP:0001270	Motor delay	1292	COL6A2	OMIM:158810
HP:0001270	Motor delay	1293	COL6A3	OMIM:254090
HP:0001270	Motor delay	1293	COL6A3	OMIM:158810
HP:0001270	Motor delay	84894	LINGO1	OMIM:618103
HP:0001270	Motor delay	6477	SIAH1	OMIM:619314
HP:0001270	Motor delay	127833	SYT2	OMIM:616040
HP:0001270	Motor delay	127833	SYT2	ORPHA:98914
HP:0001270	Motor delay	123606	NIPA1	ORPHA:261183
HP:0001270	Motor delay	7283	TUBG1	ORPHA:261183
HP:0001270	Motor delay	81614	NIPA2	ORPHA:261183
HP:0001270	Motor delay	85476	GFM1	OMIM:609060
HP:0001270	Motor delay	4720	NDUFS2	OMIM:618228
HP:0001270	Motor delay	203547	VMA21	OMIM:310440
HP:0001270	Motor delay	9256	TSPOAP1	ORPHA:101150
HP:0001270	Motor delay	4703	NEB	OMIM:256030
HP:0001270	Motor delay	4703	NEB	ORPHA:171433
HP:0001270	Motor delay	4703	NEB	ORPHA:171430
HP:0001270	Motor delay	4703	NEB	ORPHA:171439
HP:0001270	Motor delay	2200	FBN1	ORPHA:284979
HP:0001270	Motor delay	2200	FBN1	OMIM:616914
HP:0001270	Motor delay	7253	TSHR	ORPHA:424
HP:0001270	Motor delay	7253	TSHR	OMIM:609152
HP:0001270	Motor delay	7253	TSHR	ORPHA:99819
HP:0001270	Motor delay	7681	MKRN3	OMIM:176270
HP:0001270	Motor delay	3653	IPW	OMIM:176270
HP:0001270	Motor delay	791114	PWRN1	OMIM:176270
HP:0001270	Motor delay	100033413	SNORD116-1	OMIM:176270
HP:0001270	Motor delay	145624	PWAR1	OMIM:176270
HP:0001270	Motor delay	23742	NPAP1	OMIM:176270
HP:0001270	Motor delay	338433	SNORD115-1	OMIM:176270
HP:0001270	Motor delay	3785	KCNQ2	OMIM:121200
HP:0001270	Motor delay	5745	PTH1R	OMIM:600002
HP:0001270	Motor delay	1120	CHKB	OMIM:602541
HP:0001270	Motor delay	2581	GALC	ORPHA:206443
HP:0001270	Motor delay	10397	NDRG1	OMIM:601455
HP:0001270	Motor delay	10397	NDRG1	ORPHA:99950
HP:0001270	Motor delay	26275	HIBCH	ORPHA:88639
HP:0001270	Motor delay	26275	HIBCH	OMIM:250620
HP:0001270	Motor delay	81790	RNF170	OMIM:619686
HP:0001270	Motor delay	55182	RNF220	OMIM:619688
HP:0001270	Motor delay	443	ASPA	ORPHA:314918
HP:0001270	Motor delay	443	ASPA	ORPHA:314911
HP:0001270	Motor delay	6492	SIM1	ORPHA:398079
HP:0001270	Motor delay	1363	CPE	OMIM:619326
HP:0001270	Motor delay	7846	TUBA1A	OMIM:611603
HP:0001270	Motor delay	3767	KCNJ11	ORPHA:99885
HP:0001270	Motor delay	6774	STAT3	ORPHA:99885
HP:0001270	Motor delay	2645	GCK	ORPHA:99885
HP:0001270	Motor delay	3651	PDX1	ORPHA:99885
HP:0001270	Motor delay	6833	ABCC8	ORPHA:99885
HP:0001270	Motor delay	6833	ABCC8	OMIM:618857
HP:0001270	Motor delay	3630	INS	ORPHA:99885
HP:0001270	Motor delay	10166	SLC25A15	OMIM:238970
HP:0001270	Motor delay	3417	IDH1	ORPHA:99646
HP:0001270	Motor delay	55777	MBD5	OMIM:156200
HP:0001270	Motor delay	1741	DLG3	OMIM:300850
HP:0001270	Motor delay	5980	REV3L	ORPHA:570
HP:0001270	Motor delay	23129	PLXND1	ORPHA:570
HP:0001270	Motor delay	57551	TAOK1	OMIM:619575
HP:0001270	Motor delay	25929	GEMIN5	OMIM:619333
HP:0001270	Motor delay	4621	MYH3	OMIM:193700
HP:0001270	Motor delay	51434	ANAPC7	OMIM:619699
HP:0001270	Motor delay	4128	MAOA	OMIM:300615
HP:0001270	Motor delay	92255	LMBRD2	OMIM:619694
HP:0001270	Motor delay	7170	TPM3	OMIM:609284
HP:0001270	Motor delay	7170	TPM3	ORPHA:171433
HP:0001270	Motor delay	7170	TPM3	ORPHA:171881
HP:0001270	Motor delay	7170	TPM3	ORPHA:2020
HP:0001270	Motor delay	7170	TPM3	ORPHA:171439
HP:0001270	Motor delay	7169	TPM2	OMIM:609285
HP:0001270	Motor delay	7169	TPM2	ORPHA:171881
HP:0001270	Motor delay	7169	TPM2	ORPHA:2020
HP:0001270	Motor delay	7169	TPM2	ORPHA:171439
HP:0001270	Motor delay	4647	MYO7A	OMIM:276900
HP:0001270	Motor delay	10083	USH1C	OMIM:276900
HP:0001270	Motor delay	3913	LAMB2	OMIM:609049
HP:0001270	Motor delay	549	AUH	OMIM:250950
HP:0001270	Motor delay	23389	MED13L	ORPHA:369891
HP:0001270	Motor delay	23389	MED13L	OMIM:616789
HP:0001270	Motor delay	55750	AGK	OMIM:212350
HP:0001270	Motor delay	5805	PTS	ORPHA:13
HP:0001270	Motor delay	112812	FDX2	OMIM:251900
HP:0001270	Motor delay	9509	ADAMTS2	OMIM:225410
HP:0001270	Motor delay	84892	POMGNT2	OMIM:618135
HP:0001270	Motor delay	372	ARCN1	OMIM:617164
HP:0001270	Motor delay	9757	KMT2B	OMIM:617284
HP:0001270	Motor delay	23522	KAT6B	OMIM:603736
HP:0001270	Motor delay	80173	IFT74	OMIM:619582
HP:0001270	Motor delay	2705	GJB1	OMIM:302800
HP:0001270	Motor delay	2705	GJB1	ORPHA:1175
HP:0001270	Motor delay	2218	FKTN	ORPHA:370980
HP:0001270	Motor delay	2218	FKTN	OMIM:611588
HP:0001270	Motor delay	2218	FKTN	OMIM:613152
HP:0001270	Motor delay	729920	CRPPA	ORPHA:370980
HP:0001270	Motor delay	79644	SRD5A3	OMIM:612713
HP:0001270	Motor delay	79644	SRD5A3	OMIM:612379
HP:0001270	Motor delay	220296	HEPACAM	OMIM:613925
HP:0001270	Motor delay	220296	HEPACAM	OMIM:613926
HP:0001270	Motor delay	220296	HEPACAM	OMIM:604004
HP:0001270	Motor delay	23594	ORC6	OMIM:613803
HP:0001270	Motor delay	8425	LTBP4	ORPHA:98896
HP:0001270	Motor delay	5727	PTCH1	OMIM:109400
HP:0001270	Motor delay	10771	ZMYND11	OMIM:616083
HP:0001270	Motor delay	10522	DEAF1	OMIM:617171
HP:0001270	Motor delay	10522	DEAF1	OMIM:615828
HP:0001270	Motor delay	11212	PLPBP	OMIM:617290
HP:0001270	Motor delay	84265	POLR3GL	OMIM:619234
HP:0001270	Motor delay	54809	SAMD9	OMIM:617053
HP:0001270	Motor delay	134218	DNAJC21	OMIM:617052
HP:0001270	Motor delay	10526	IPO8	OMIM:619472
HP:0001270	Motor delay	2892	GRIA3	ORPHA:364028
HP:0001270	Motor delay	3032	HADHB	ORPHA:746
HP:0001270	Motor delay	3030	HADHA	ORPHA:746
HP:0001270	Motor delay	4534	MTM1	OMIM:310400
HP:0001270	Motor delay	246329	STAC3	ORPHA:168572
HP:0001270	Motor delay	246329	STAC3	OMIM:255995
HP:0001270	Motor delay	2887	GRB10	ORPHA:96182
HP:0001270	Motor delay	25839	COG4	OMIM:618150
HP:0001270	Motor delay	51360	MBTPS2	OMIM:308205
HP:0001270	Motor delay	10681	GNB5	OMIM:617182
HP:0001270	Motor delay	3636	INPPL1	OMIM:258480
HP:0001270	Motor delay	22978	NT5C2	ORPHA:320396
HP:0001270	Motor delay	22978	NT5C2	OMIM:613162
HP:0001270	Motor delay	9325	TRIP4	OMIM:617066
HP:0001270	Motor delay	9325	TRIP4	ORPHA:486815
HP:0001270	Motor delay	203068	TUBB	OMIM:156610
HP:0001270	Motor delay	285590	SH3PXD2B	OMIM:249420
HP:0001270	Motor delay	8567	MADD	OMIM:619004
HP:0001270	Motor delay	8567	MADD	OMIM:619005
HP:0001270	Motor delay	374354	NHLRC2	OMIM:618278
HP:0001270	Motor delay	6197	RPS6KA3	OMIM:300844
HP:0001270	Motor delay	23287	AGTPBP1	OMIM:618276
HP:0001270	Motor delay	23287	AGTPBP1	ORPHA:2254
HP:0001270	Motor delay	3557	IL1RN	OMIM:612852
HP:0001270	Motor delay	50485	SMARCAL1	OMIM:242900
HP:0001270	Motor delay	118924	FRA10AC1	OMIM:620113
HP:0001270	Motor delay	4322	MMP13	OMIM:250400
HP:0001270	Motor delay	10551	AGR2	OMIM:620233
HP:0001270	Motor delay	745	MYRF	OMIM:618280
HP:0001270	Motor delay	4693	NDP	ORPHA:891
HP:0001270	Motor delay	23554	TSPAN12	ORPHA:891
HP:0001270	Motor delay	79797	ZNF408	ORPHA:891
HP:0001270	Motor delay	8322	FZD4	ORPHA:891
HP:0001270	Motor delay	2629	GBA1	ORPHA:2072
HP:0001270	Motor delay	2629	GBA1	OMIM:231000
HP:0001270	Motor delay	11014	KDELR2	OMIM:619131
HP:0001270	Motor delay	84231	TRAF7	OMIM:618164
HP:0001270	Motor delay	4781	NFIB	OMIM:618286
HP:0001270	Motor delay	89970	RSPRY1	ORPHA:457395
HP:0001270	Motor delay	89970	RSPRY1	OMIM:616723
HP:0001270	Motor delay	100	ADA	OMIM:102700
HP:0001270	Motor delay	2733	GLE1	OMIM:611890
HP:0001270	Motor delay	8831	SYNGAP1	OMIM:612621
HP:0001270	Motor delay	5236	PGM1	OMIM:614921
HP:0001270	Motor delay	54187	NANS	OMIM:610442
HP:0001270	Motor delay	9997	SCO2	ORPHA:521411
HP:0001270	Motor delay	138050	HGSNAT	OMIM:252930
HP:0001270	Motor delay	779	CACNA1S	OMIM:620246
HP:0001270	Motor delay	51082	POLR1D	OMIM:613717
HP:0001270	Motor delay	10079	ATP9A	OMIM:620242
HP:0001270	Motor delay	124093	CCDC78	OMIM:614807
HP:0001270	Motor delay	11011	TLK2	OMIM:618050
HP:0001270	Motor delay	84842	HPDL	OMIM:619026
HP:0001270	Motor delay	27072	VPS41	OMIM:619389
HP:0001270	Motor delay	27161	AGO2	OMIM:619149
HP:0001270	Motor delay	90523	MLIP	OMIM:620138
HP:0001270	Motor delay	161742	SPRED1	ORPHA:137605
HP:0001270	Motor delay	2690	GHR	ORPHA:633
HP:0001270	Motor delay	121340	SP7	OMIM:613849
HP:0001270	Motor delay	27183	VPS4A	OMIM:619273
HP:0001270	Motor delay	8450	CUL4B	OMIM:300354
HP:0001270	Motor delay	6535	SLC6A8	OMIM:300352
HP:0001270	Motor delay	4570	MT-TN	OMIM:220110
HP:0001270	Motor delay	6834	SURF1	OMIM:220110
HP:0001270	Motor delay	23019	CNOT1	OMIM:619033
HP:0001270	Motor delay	55503	TRPV6	OMIM:618188
HP:0001270	Motor delay	27178	IL37	OMIM:619398
HP:0001270	Motor delay	8496	PPFIBP1	OMIM:620024
HP:0001270	Motor delay	51816	ADA2	ORPHA:820
HP:0001270	Motor delay	5376	PMP22	OMIM:180800
HP:0001270	Motor delay	5376	PMP22	OMIM:145900
HP:0001270	Motor delay	4758	NEU1	ORPHA:93399
HP:0001270	Motor delay	10093	ARPC4	OMIM:620141
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171433
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171430
HP:0001270	Motor delay	10324	KLHL41	OMIM:615731
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171439
HP:0001270	Motor delay	89910	UBE3B	OMIM:244450
HP:0001270	Motor delay	9442	MED27	OMIM:619286
HP:0001270	Motor delay	131377	KLHL40	ORPHA:171430
HP:0001270	Motor delay	56203	LMOD3	ORPHA:171430
HP:0001270	Motor delay	4010	LMX1B	ORPHA:495818
HP:0001270	Motor delay	6812	STXBP1	ORPHA:495818
HP:0001270	Motor delay	9640	ZNF592	ORPHA:83472
HP:0001270	Motor delay	84942	WDR73	ORPHA:83472
HP:0001270	Motor delay	6507	SLC1A3	OMIM:612656
HP:0001270	Motor delay	5689	PSMB1	OMIM:620038
HP:0001270	Motor delay	1798	DPAGT1	ORPHA:353327
HP:0001270	Motor delay	1798	DPAGT1	OMIM:614750
HP:0001270	Motor delay	199857	ALG14	ORPHA:353327
HP:0001270	Motor delay	7125	TNNC2	OMIM:620161
HP:0001270	Motor delay	51324	SPG21	OMIM:248900
HP:0001270	Motor delay	1185	CLCN6	OMIM:619173
HP:0001270	Motor delay	64324	NSD1	OMIM:117550
HP:0001270	Motor delay	84665	MYPN	ORPHA:171881
HP:0001270	Motor delay	84665	MYPN	ORPHA:171439
HP:0001270	Motor delay	9739	SETD1A	OMIM:619056
HP:0001270	Motor delay	1757	SARDH	ORPHA:3129
HP:0001270	Motor delay	191	AHCY	OMIM:613752
HP:0001270	Motor delay	55157	DARS2	ORPHA:137898
HP:0001270	Motor delay	55157	DARS2	OMIM:611105
HP:0001270	Motor delay	8792	TNFRSF11A	OMIM:612301
HP:0001270	Motor delay	5631	PRPS1	ORPHA:1187
HP:0001270	Motor delay	5631	PRPS1	OMIM:300661
HP:0001270	Motor delay	5631	PRPS1	OMIM:311070
HP:0001270	Motor delay	36	ACADSB	OMIM:610006
HP:0001270	Motor delay	8546	AP3B1	OMIM:608233
HP:0001270	Motor delay	56984	PSMG2	OMIM:619183
HP:0001270	Motor delay	8802	SUCLG1	OMIM:245400
HP:0001270	Motor delay	100303755	PET117	OMIM:619063
HP:0001270	Motor delay	4633	MYL2	ORPHA:2020
HP:0001270	Motor delay	3679	ITGA7	ORPHA:2020
HP:0001270	Motor delay	3679	ITGA7	OMIM:613204
HP:0001270	Motor delay	51776	MAP3K20	ORPHA:2020
HP:0001270	Motor delay	51776	MAP3K20	OMIM:617760
HP:0001270	Motor delay	4697	NDUFA4	OMIM:619065
HP:0001270	Motor delay	60	ACTB	OMIM:607371
HP:0001270	Motor delay	11284	PNKP	OMIM:613402
HP:0001270	Motor delay	55636	CHD7	OMIM:214800
HP:0001270	Motor delay	3070	HELLS	OMIM:616911
HP:0001270	Motor delay	657	BMPR1A	ORPHA:79076
HP:0001270	Motor delay	10382	TUBB4A	OMIM:612438
HP:0001270	Motor delay	165	AEBP1	ORPHA:536532
HP:0001270	Motor delay	374654	KIF7	OMIM:607131
HP:0001270	Motor delay	121512	FGD4	OMIM:609311
HP:0001270	Motor delay	7915	ALDH5A1	OMIM:271980
HP:0001270	Motor delay	2743	GLRB	OMIM:614619
HP:0001270	Motor delay	9653	HS2ST1	OMIM:619194
HP:0001270	Motor delay	11340	EXOSC8	ORPHA:2254
HP:0001270	Motor delay	5393	EXOSC9	ORPHA:2254
HP:0001270	Motor delay	51010	EXOSC3	ORPHA:2254
HP:0001270	Motor delay	7443	VRK1	ORPHA:2254
HP:0001270	Motor delay	7443	VRK1	OMIM:607596
HP:0001270	Motor delay	91137	SLC25A46	ORPHA:2254
HP:0001270	Motor delay	10290	SPEG	OMIM:615959
HP:0001270	Motor delay	10290	SPEG	ORPHA:169186
HP:0001270	Motor delay	3748	KCNC3	ORPHA:98768
HP:0001270	Motor delay	3748	KCNC3	OMIM:605259
HP:0001270	Motor delay	54499	TMCO1	OMIM:213980
HP:0001270	Motor delay	10518	CIB2	OMIM:614869
HP:0001270	Motor delay	9990	SLC12A6	OMIM:620068
HP:0001270	Motor delay	9990	SLC12A6	OMIM:218000
HP:0001270	Motor delay	23137	SMC5	OMIM:620185
HP:0001270	Motor delay	3251	HPRT1	OMIM:300322
HP:0001270	Motor delay	9321	TRIP11	OMIM:184260
HP:0001270	Motor delay	347733	TUBB2B	OMIM:610031
HP:0001270	Motor delay	1028	CDKN1C	ORPHA:397590
HP:0001270	Motor delay	5324	PLAG1	ORPHA:397590
HP:0001270	Motor delay	8091	HMGA2	ORPHA:397590
HP:0001270	Motor delay	284217	LAMA1	OMIM:615960
HP:0001270	Motor delay	5165	PDK3	ORPHA:352675
HP:0001270	Motor delay	5092	PCBD1	OMIM:264070
HP:0001270	Motor delay	8242	KDM5C	OMIM:300534
HP:0001270	Motor delay	51741	WWOX	ORPHA:284282
HP:0001270	Motor delay	6389	SDHA	ORPHA:3208
HP:0001270	Motor delay	6392	SDHD	ORPHA:3208
HP:0001270	Motor delay	644096	SDHAF1	ORPHA:3208
HP:0001270	Motor delay	1374	CPT1A	OMIM:255120
HP:0001270	Motor delay	2261	FGFR3	OMIM:100800
HP:0001270	Motor delay	390594	KBTBD13	ORPHA:171439
HP:0001270	Motor delay	2961	GTF2E2	OMIM:616943
HP:0001270	Motor delay	57465	TBC1D24	ORPHA:352582
HP:0001270	Motor delay	1384	CRAT	OMIM:617917
HP:0001270	Motor delay	81846	SBF2	ORPHA:99956
HP:0001270	Motor delay	85021	REPS1	OMIM:617916
HP:0001270	Motor delay	1487	CTBP1	OMIM:617915
HP:0001270	Motor delay	6509	SLC1A4	ORPHA:447997
HP:0001270	Motor delay	6314	ATXN7	ORPHA:94147
HP:0001270	Motor delay	84978	FRMD5	OMIM:620094
HP:0001270	Motor delay	226	ALDOA	ORPHA:57
HP:0001270	Motor delay	51067	YARS2	OMIM:613561
HP:0001270	Motor delay	91252	SLC39A13	OMIM:612350
HP:0001270	Motor delay	57716	PRX	OMIM:614895
HP:0001270	Motor delay	57716	PRX	OMIM:145900
HP:0001270	Motor delay	2316	FLNA	OMIM:309350
HP:0001270	Motor delay	51053	GMNN	OMIM:616835
HP:0001270	Motor delay	7407	VARS1	OMIM:617802
HP:0001270	Motor delay	2719	GPC3	OMIM:312870
HP:0001270	Motor delay	2239	GPC4	OMIM:312870
HP:0001270	Motor delay	4000	LMNA	OMIM:613205
HP:0001270	Motor delay	196528	ARID2	OMIM:617808
HP:0001270	Motor delay	57410	SCYL1	OMIM:616719
HP:0001270	Motor delay	1959	EGR2	OMIM:145900
HP:0001270	Motor delay	1959	EGR2	OMIM:605253
HP:0001270	Motor delay	1861	TOR1A	OMIM:128100
HP:0001270	Motor delay	4976	OPA1	OMIM:210000
HP:0001270	Motor delay	8729	GBF1	OMIM:606483
HP:0001270	Motor delay	6323	SCN1A	OMIM:607208
HP:0001270	Motor delay	579	NKX3-2	OMIM:613330
HP:0001270	Motor delay	9698	PUM1	OMIM:617931
HP:0001270	Motor delay	23394	ADNP	OMIM:615873
HP:0001270	Motor delay	85358	SHANK3	OMIM:606232
HP:0001270	Motor delay	26115	TANC2	OMIM:618906
HP:0001270	Motor delay	9150	CTDP1	OMIM:604168
HP:0001270	Motor delay	55187	VPS13D	OMIM:607317
HP:0001270	Motor delay	4854	NOTCH3	OMIM:130720
HP:0001270	Motor delay	10229	COQ7	OMIM:616733
HP:0001270	Motor delay	1806	DPYD	OMIM:274270
HP:0001270	Motor delay	23291	FBXW11	OMIM:618914
HP:0001270	Motor delay	4893	NRAS	OMIM:613224
HP:0001270	Motor delay	6334	SCN8A	OMIM:614558
HP:0001270	Motor delay	10982	MAPRE2	OMIM:616734
HP:0001270	Motor delay	3736	KCNA1	ORPHA:37612
HP:0001270	Motor delay	3176	HNMT	OMIM:616739
HP:0001270	Motor delay	27235	COQ2	OMIM:607426
HP:0001270	Motor delay	2332	FMR1	ORPHA:449291
HP:0001270	Motor delay	11253	MAN1B1	OMIM:614202
HP:0001270	Motor delay	116150	NUS1	OMIM:617831
HP:0001270	Motor delay	55603	TENT5A	OMIM:617952
HP:0001270	Motor delay	26007	TKFC	OMIM:618805
HP:0001270	Motor delay	4358	MPV17	OMIM:256810
HP:0001270	Motor delay	2058	EPRS1	OMIM:617951
HP:0001270	Motor delay	27315	PGAP2	OMIM:614207
HP:0001270	Motor delay	54974	THG1L	OMIM:618800
HP:0001270	Motor delay	84693	MCEE	OMIM:251120
HP:0001270	Motor delay	1641	DCX	OMIM:300067
HP:0001270	Motor delay	478	ATP1A3	ORPHA:71517
HP:0001270	Motor delay	427	ASAH1	OMIM:228000
HP:0001270	Motor delay	7421	VDR	OMIM:277440
HP:0001270	Motor delay	23152	CIC	OMIM:617600
HP:0001270	Motor delay	23395	LARS2	OMIM:615300
HP:0001270	Motor delay	11280	SCN11A	OMIM:615548
HP:0001270	Motor delay	65217	PCDH15	OMIM:602083
HP:0001270	Motor delay	2584	GALK1	ORPHA:79237
HP:0001270	Motor delay	11019	LIAS	OMIM:614462
HP:0001270	Motor delay	10367	MICU1	OMIM:615673
HP:0001270	Motor delay	8087	FXR1	OMIM:618822
HP:0001270	Motor delay	8087	FXR1	OMIM:618823
HP:0001270	Motor delay	285175	UNC80	ORPHA:371364
HP:0001270	Motor delay	6697	SPR	ORPHA:70594
HP:0001270	Motor delay	23545	ATP6V0A2	OMIM:219200
HP:0001270	Motor delay	23545	ATP6V0A2	ORPHA:357074
HP:0001270	Motor delay	23209	MLC1	OMIM:604004
HP:0001270	Motor delay	54870	QRICH1	OMIM:617982
HP:0001270	Motor delay	83737	ITCH	OMIM:613385
HP:0001270	Motor delay	283989	TSEN54	ORPHA:2524
HP:0001270	Motor delay	79042	TSEN34	ORPHA:2524
HP:0001270	Motor delay	80746	TSEN2	ORPHA:2524
HP:0001270	Motor delay	51091	SEPSECS	ORPHA:2524
HP:0001270	Motor delay	3295	HSD17B4	OMIM:233400
HP:0001270	Motor delay	1103	CHAT	ORPHA:98914
HP:0001270	Motor delay	6572	SLC18A3	ORPHA:98914
HP:0001270	Motor delay	54676	GTPBP2	OMIM:617988
HP:0001270	Motor delay	3033	HADH	ORPHA:71212
HP:0001270	Motor delay	84628	NTNG2	OMIM:618718
HP:0001270	Motor delay	259266	ASPM	OMIM:608716
HP:0001270	Motor delay	126792	B3GALT6	ORPHA:536467
HP:0001270	Motor delay	126792	B3GALT6	OMIM:615349
HP:0001270	Motor delay	374462	PTPRQ	OMIM:613391
HP:0001270	Motor delay	9320	TRIP12	OMIM:617752
HP:0001270	Motor delay	529	ATP6V1E1	ORPHA:357074
HP:0001270	Motor delay	55624	POMGNT1	OMIM:613151
HP:0001270	Motor delay	55624	POMGNT1	OMIM:613157
HP:0001270	Motor delay	2186	BPTF	OMIM:617755
HP:0001270	Motor delay	5879	RAC1	ORPHA:500159
HP:0001270	Motor delay	84700	MYO18B	OMIM:616549
HP:0001270	Motor delay	8777	MPDZ	OMIM:615219
HP:0001270	Motor delay	5718	PSMD12	OMIM:617516
HP:0001270	Motor delay	9939	RBM8A	OMIM:274000
HP:0001270	Motor delay	166929	SGMS2	OMIM:126550
HP:0001270	Motor delay	4848	CNOT2	OMIM:618608
HP:0001270	Motor delay	8139	GAN	OMIM:256850
HP:0001270	Motor delay	26229	B3GAT3	OMIM:245600
HP:0001270	Motor delay	51733	UPB1	OMIM:613161
HP:0001270	Motor delay	23404	EXOSC2	OMIM:617763
HP:0001270	Motor delay	5087	PBX1	OMIM:617641
HP:0001270	Motor delay	51763	INPP5K	OMIM:617404
HP:0001270	Motor delay	4858	NOVA2	OMIM:618859
HP:0001270	Motor delay	9181	ARHGEF2	OMIM:617523
HP:0001270	Motor delay	25871	NEPRO	OMIM:618853
HP:0001270	Motor delay	4654	MYOD1	OMIM:618975
HP:0001270	Motor delay	7252	TSHB	OMIM:275100
HP:0001270	Motor delay	11113	CIT	OMIM:617090
HP:0001270	Motor delay	85465	SELENOI	ORPHA:506353
HP:0001270	Motor delay	4625	MYH7	ORPHA:324604
HP:0001270	Motor delay	7273	TTN	ORPHA:324604
HP:0001270	Motor delay	23769	FLRT1	ORPHA:320406
HP:0001270	Motor delay	64837	KLC2	ORPHA:320406
HP:0001270	Motor delay	388015	RTL1	ORPHA:254534
HP:0001270	Motor delay	8788	DLK1	ORPHA:254534
HP:0001270	Motor delay	55384	MEG3	ORPHA:254534
HP:0001270	Motor delay	57165	GJC2	ORPHA:320401
HP:0001270	Motor delay	4860	PNP	OMIM:613179
HP:0001270	Motor delay	775	CACNA1C	OMIM:620029
HP:0001270	Motor delay	4967	OGDH	OMIM:203740
HP:0001270	Motor delay	1756	DMD	OMIM:310200
HP:0001270	Motor delay	4774	NFIA	OMIM:613735
HP:0001270	Motor delay	1119	CHKA	OMIM:620023
HP:0001270	Motor delay	274	BIN1	ORPHA:169189
HP:0001270	Motor delay	64419	MTMR14	ORPHA:169189
HP:0001270	Motor delay	4618	MYF6	ORPHA:169189
HP:0001270	Motor delay	1785	DNM2	ORPHA:169189
HP:0001270	Motor delay	81570	CLPB	ORPHA:445038
HP:0001270	Motor delay	4867	NPHP1	OMIM:609583
HP:0001270	Motor delay	5339	PLEC	ORPHA:254361
HP:0001270	Motor delay	6792	CDKL5	ORPHA:3095
HP:0001270	Motor delay	6792	CDKL5	ORPHA:505652
HP:0001270	Motor delay	22854	NTNG1	ORPHA:3095
HP:0001270	Motor delay	9568	GABBR2	ORPHA:3095
HP:0001270	Motor delay	116461	TSEN15	OMIM:617026
HP:0001270	Motor delay	10978	CLP1	ORPHA:411493
HP:0001270	Motor delay	23030	KDM4B	OMIM:619320
HP:0001270	Motor delay	1278	COL1A2	OMIM:617821
HP:0001270	Motor delay	57156	TMEM63C	OMIM:619966
HP:0001270	Motor delay	57231	SNX14	ORPHA:397709
HP:0001270	Motor delay	57231	SNX14	OMIM:616354
HP:0001270	Motor delay	79147	FKRP	OMIM:606612
HP:0001270	Motor delay	6609	SMPD1	ORPHA:77293
HP:0001270	Motor delay	24140	FTSJ1	OMIM:309549
HP:0001270	Motor delay	8913	CACNA1G	OMIM:618087
HP:0001270	Motor delay	63035	BCORL1	OMIM:301029
HP:0001270	Motor delay	80224	NUBPL	OMIM:618242
HP:0001270	Motor delay	9469	CHST3	OMIM:143095
HP:0001270	Motor delay	113189	CHST14	ORPHA:2953
HP:0001270	Motor delay	113189	CHST14	OMIM:601776
HP:0001270	Motor delay	29940	DSE	ORPHA:2953
HP:0001270	Motor delay	29940	DSE	OMIM:615539
HP:0001270	Motor delay	1777	DNASE2	OMIM:619858
HP:0001270	Motor delay	7084	TK2	OMIM:609560
HP:0001270	Motor delay	10381	TUBB3	ORPHA:300570
HP:0001270	Motor delay	23184	MESD	OMIM:618644
HP:0001270	Motor delay	5257	PHKB	ORPHA:79240
HP:0001270	Motor delay	9969	MED13	OMIM:618009
HP:0001270	Motor delay	6678	SPARC	OMIM:616507
HP:0001270	Motor delay	1000	CDH2	OMIM:618929
HP:0001270	Motor delay	4982	TNFRSF11B	OMIM:239000
HP:0001270	Motor delay	6872	TAF1	ORPHA:480907
HP:0001270	Motor delay	6872	TAF1	OMIM:300966
HP:0001270	Motor delay	51102	MECR	OMIM:617282
HP:0001270	Motor delay	80856	LNPK	OMIM:618090
HP:0001270	Motor delay	1277	COL1A1	OMIM:130060
HP:0001270	Motor delay	4556	MT-TE	ORPHA:254864
HP:0001270	Motor delay	55687	TRMU	ORPHA:254864
HP:0001270	Motor delay	2744	GLS	OMIM:618412
HP:0001270	Motor delay	4297	KMT2A	ORPHA:319182
HP:0001270	Motor delay	23327	NEDD4L	OMIM:617201
HP:0001270	Motor delay	833	CARS1	OMIM:618891
HP:0001270	Motor delay	4041	LRP5	ORPHA:2788
HP:0001270	Motor delay	3340	NDST1	OMIM:616116
HP:0001270	Motor delay	649	BMP1	OMIM:614856
HP:0001270	Motor delay	7138	TNNT1	OMIM:605355
HP:0001270	Motor delay	2697	GJA1	OMIM:257850
HP:0001270	Motor delay	1802	DPH2	OMIM:620062
HP:0001270	Motor delay	50801	KCNK4	OMIM:618381
HP:0001270	Motor delay	5518	PPP2R1A	OMIM:616362
HP:0001270	Motor delay	1186	CLCN7	OMIM:618541
HP:0001270	Motor delay	1280	COL2A1	OMIM:151210
HP:0001270	Motor delay	8812	CCNK	OMIM:618147
HP:0001270	Motor delay	9851	KIAA0753	OMIM:619479
HP:0001270	Motor delay	51095	TRNT1	OMIM:616084
HP:0001270	Motor delay	51633	OTUD6B	OMIM:617452
HP:0001270	Motor delay	6531	SLC6A3	OMIM:613135
HP:0001270	Motor delay	51520	LARS1	OMIM:615438
HP:0001270	Motor delay	3035	HARS1	OMIM:614504
HP:0001270	Motor delay	5728	PTEN	ORPHA:109
HP:0001270	Motor delay	93210	PGAP3	OMIM:615716
HP:0001270	Motor delay	2248	FGF3	OMIM:610706
HP:0001270	Motor delay	11198	SUPT16H	OMIM:619480
HP:0001270	Motor delay	8720	MBTPS1	OMIM:618392
HP:0001270	Motor delay	79813	EHMT1	ORPHA:261652
HP:0001270	Motor delay	58508	KMT2C	ORPHA:261652
HP:0001270	Motor delay	54828	BCAS3	OMIM:619641
HP:0001270	Motor delay	3198	HOXA1	OMIM:601536
HP:0001270	Motor delay	122553	TRAPPC6B	OMIM:617862
HP:0001270	Motor delay	2232	FDXR	ORPHA:543470
HP:0001270	Motor delay	23112	TNRC6B	OMIM:619243
HP:0001270	Motor delay	2890	GRIA1	OMIM:619927
HP:0001270	Motor delay	200424	TET3	OMIM:618798
HP:0001270	Motor delay	10297	APC2	OMIM:618677
HP:0001270	Motor delay	79971	WLS	OMIM:619648
HP:0001270	Motor delay	9562	MINPP1	OMIM:619527
HP:0001270	Motor delay	6329	SCN4A	ORPHA:98913
HP:0001270	Motor delay	1134	CHRNA1	ORPHA:98913
HP:0001270	Motor delay	4038	LRP4	ORPHA:98913
HP:0001270	Motor delay	4038	LRP4	OMIM:212780
HP:0001270	Motor delay	1305	COL13A1	ORPHA:98913
HP:0001270	Motor delay	1144	CHRND	ORPHA:98913
HP:0001270	Motor delay	1145	CHRNE	ORPHA:98913
HP:0001270	Motor delay	4593	MUSK	ORPHA:98913
HP:0001270	Motor delay	5913	RAPSN	ORPHA:98913
HP:0001270	Motor delay	375790	AGRN	ORPHA:98913
HP:0001270	Motor delay	221264	AK9	ORPHA:98913
HP:0001270	Motor delay	285489	DOK7	ORPHA:98913
HP:0001270	Motor delay	22880	MORC2	OMIM:619090
HP:0001270	Motor delay	10846	PDE10A	ORPHA:494541
HP:0001270	Motor delay	3739	KCNA4	OMIM:618284
HP:0001270	Motor delay	339855	KY	ORPHA:496689
HP:0001270	Motor delay	476	ATP1A1	ORPHA:564178
HP:0001270	Motor delay	8565	YARS1	OMIM:619418
HP:0001270	Motor delay	131118	DNAJC19	ORPHA:66634
HP:0001270	Motor delay	9928	KIF14	OMIM:617914
HP:0001270	Motor delay	5557	PRIM1	OMIM:620005
HP:0001270	Motor delay	57731	SPTBN4	OMIM:617519
HP:0001270	Motor delay	147372	CCBE1	OMIM:235510
HP:0001270	Motor delay	79087	ALG12	ORPHA:79324
HP:0001270	Motor delay	29954	POMT2	ORPHA:206559
HP:0001270	Motor delay	9896	FIG4	ORPHA:208441
HP:0001270	Motor delay	9927	MFN2	OMIM:617087
HP:0001270	Motor delay	51362	CDC40	OMIM:619302
HP:0001270	Motor delay	1496	CTNNA2	OMIM:618174
HP:0001270	Motor delay	8803	SUCLA2	OMIM:612073
HP:0001270	Motor delay	8803	SUCLA2	ORPHA:1933
HP:0001270	Motor delay	7043	TGFB3	OMIM:615582
HP:0001270	Motor delay	5256	PHKA2	ORPHA:264580
HP:0001270	Motor delay	5261	PHKG2	ORPHA:264580
HP:0001270	Motor delay	96459	FNIP1	OMIM:619705
HP:0001270	Motor delay	84148	KAT8	OMIM:618974
HP:0001270	Motor delay	7319	UBE2A	ORPHA:163956
HP:0001270	Motor delay	8260	NAA10	ORPHA:276432
HP:0001270	Motor delay	3516	RBPJ	OMIM:614814
HP:0001270	Motor delay	5297	PI4KA	OMIM:619708
HP:0001270	Motor delay	2582	GALE	OMIM:230350
HP:0001270	Motor delay	6711	SPTBN1	OMIM:619475
HP:0001270	Motor delay	26053	AUTS2	OMIM:615834
HP:0001270	Motor delay	5447	POR	ORPHA:95699
HP:0001270	Motor delay	9871	SEC24D	OMIM:616294
HP:0001270	Motor delay	119559	SFXN4	OMIM:615578
HP:0001270	Motor delay	1009	CDH11	OMIM:211380
HP:0001270	Motor delay	25942	SIN3A	OMIM:613406
HP:0001270	Motor delay	57498	KIDINS220	OMIM:617296
HP:0001270	Motor delay	2548	GAA	ORPHA:308552
HP:0001270	Motor delay	91875	TTC5	OMIM:619244
HP:0001270	Motor delay	6326	SCN2A	OMIM:618924
HP:0001270	Motor delay	339983	NAT8L	OMIM:614063
HP:0001270	Motor delay	340533	NEXMIF	OMIM:300912
HP:0001270	Motor delay	51728	POLR3K	OMIM:619310
HP:0001270	Motor delay	64116	SLC39A8	OMIM:616721
HP:0001270	Motor delay	7701	ZNF142	OMIM:618425
HP:0001270	Motor delay	4191	MDH2	OMIM:617339
HP:0001270	Motor delay	7358	UGDH	OMIM:618792
HP:0001270	Motor delay	2904	GRIN2B	OMIM:616139
HP:0001270	Motor delay	55768	NGLY1	ORPHA:404454
HP:0001270	Motor delay	64221	ROBO3	OMIM:607313
HP:0001270	Motor delay	23387	SIK3	OMIM:618162
HP:0001270	Motor delay	738	VPS51	OMIM:618606
HP:0001270	Motor delay	5048	PAFAH1B1	ORPHA:95232
HP:0001270	Motor delay	6095	RORA	OMIM:618060
HP:0001270	Motor delay	4359	MPZ	OMIM:618184
HP:0001270	Motor delay	7528	YY1	ORPHA:506358
HP:0001270	Motor delay	8036	SHOC2	OMIM:607721
HP:0001270	Motor delay	26960	NBEA	OMIM:619157
HP:0001270	Motor delay	104	ADARB1	OMIM:618862
HP:0001270	Motor delay	9853	RUSC2	OMIM:617773
HP:0001270	Motor delay	23241	PACS2	OMIM:618067
HP:0001270	Motor delay	6659	SOX4	OMIM:618506
HP:0001270	Motor delay	7109	TRAPPC10	OMIM:620027
HP:0001270	Motor delay	3190	HNRNPK	ORPHA:453504
HP:0001270	Motor delay	3190	HNRNPK	ORPHA:352665
HP:0001270	Motor delay	2617	GARS1	OMIM:619042
HP:0001270	Motor delay	4983	OPHN1	OMIM:300486
HP:0001270	Motor delay	10743	RAI1	ORPHA:477817
HP:0001270	Motor delay	80232	WDR26	ORPHA:513456
HP:0001270	Motor delay	80232	WDR26	OMIM:617616
HP:0001270	Motor delay	54344	DPM3	OMIM:618992
HP:0001270	Motor delay	3020	H3-3A	OMIM:619720
HP:0001270	Motor delay	80816	ASXL3	OMIM:615485
HP:0001270	Motor delay	6576	SLC25A1	OMIM:618197
HP:0001270	Motor delay	4649	MYO9A	OMIM:618198
HP:0001270	Motor delay	6616	SNAP25	OMIM:616330
HP:0001270	Motor delay	283489	CHAMP1	OMIM:616579
HP:0001270	Motor delay	27245	AHDC1	ORPHA:412069
HP:0001270	Motor delay	55904	KMT2E	OMIM:618512
HP:0001270	Motor delay	10501	SEMA6B	OMIM:618876
HP:0001270	Motor delay	318	NUDT2	OMIM:619844
HP:0001270	Motor delay	128486	FITM2	OMIM:618635
HP:0001270	Motor delay	28960	DCPS	OMIM:616459
HP:0001270	Motor delay	27102	EIF2AK1	OMIM:618878
HP:0001270	Motor delay	23431	AP4E1	OMIM:613744
HP:0001270	Motor delay	25782	RAB3GAP2	OMIM:212720
HP:0001270	Motor delay	79158	GNPTAB	OMIM:252500
HP:0001270	Motor delay	9382	COG1	OMIM:611209
HP:0001270	Motor delay	2192	FBLN1	ORPHA:404451
HP:0001270	Motor delay	6595	SMARCA2	OMIM:619293
HP:0001270	Motor delay	8029	CUBN	ORPHA:35858
HP:0001270	Motor delay	81693	AMN	ORPHA:35858
HP:0001270	Motor delay	83696	TRAPPC9	OMIM:613192
HP:0001270	Motor delay	4001	LMNB1	OMIM:619179
HP:0001270	Motor delay	23321	TRIM2	OMIM:615490
HP:0001270	Motor delay	2590	GALNT2	OMIM:618885
HP:0001270	Motor delay	57492	ARID1B	OMIM:135900
HP:0001270	Motor delay	80204	FBXO11	OMIM:618089
HP:0001270	Motor delay	5119	CHMP1A	OMIM:614961
HP:0001270	Motor delay	815	CAMK2A	OMIM:617798
HP:0001270	Motor delay	7436	VLDLR	OMIM:224050
HP:0001270	Motor delay	2770	GNAI1	OMIM:619854
HP:0001270	Motor delay	23325	WASHC4	OMIM:615817
HP:0001270	Motor delay	10716	TBR1	OMIM:606053
HP:0001270	Motor delay	9839	ZEB2	ORPHA:261552
HP:0001270	Motor delay	9839	ZEB2	ORPHA:261537
HP:0001270	Motor delay	84823	LMNB2	OMIM:619180
HP:0001270	Motor delay	64919	BCL11B	OMIM:618092
HP:0001270	Motor delay	1303	COL12A1	OMIM:616471
HP:0001270	Motor delay	1303	COL12A1	ORPHA:536516
HP:0001270	Motor delay	55703	POLR3B	OMIM:619742
HP:0001270	Motor delay	23203	PMPCA	ORPHA:1170
HP:0001270	Motor delay	23203	PMPCA	OMIM:213200
HP:0001270	Motor delay	88	ACTN2	OMIM:618654
HP:0001270	Motor delay	5528	PPP2R5D	OMIM:616355
HP:0001270	Motor delay	5528	PPP2R5D	ORPHA:457279
HP:0001270	Motor delay	5833	PCYT2	OMIM:618770
HP:0001270	Motor delay	54872	PIGG	ORPHA:488635
HP:0001270	Motor delay	1954	MEGF8	OMIM:614976
HP:0001270	Motor delay	11160	ERLIN2	OMIM:611225
HP:0001270	Motor delay	6602	SMARCD1	OMIM:618779
HP:0001270	Motor delay	284439	SLC25A42	OMIM:618416
HP:0001270	Motor delay	9711	RUBCN	OMIM:615705
HP:0001270	Motor delay	1576	CYP3A4	OMIM:619073
HP:0001270	Motor delay	2615	LRRC32	OMIM:619074
HP:0001270	Motor delay	4953	ODC1	OMIM:619075
HP:0001270	Motor delay	7840	ALMS1	ORPHA:64
HP:0001270	Motor delay	10585	POMT1	OMIM:609308
HP:0001270	Motor delay	7809	BSND	ORPHA:89938
HP:0001270	Motor delay	1188	CLCNKB	ORPHA:89938
HP:0001270	Motor delay	1187	CLCNKA	ORPHA:89938
HP:0001270	Motor delay	113612	CYP2U1	OMIM:615030
HP:0001270	Motor delay	5251	PHEX	ORPHA:89936
HP:0001270	Motor delay	253738	EBF3	OMIM:617330
HP:0001270	Motor delay	55621	TRMT1	OMIM:618302
HP:0001270	Motor delay	10717	AP4B1	OMIM:614066
HP:0001270	Motor delay	11154	AP4S1	OMIM:614067
HP:0001270	Motor delay	7862	BRPF1	OMIM:617333
HP:0001270	Motor delay	5063	PAK3	OMIM:300558
HP:0001270	Motor delay	1182	CLCN3	OMIM:619517
HP:0001270	Motor delay	57863	CADM3	OMIM:619519
HP:0001270	Motor delay	92609	TIMM50	OMIM:617698
HP:0001270	Motor delay	92609	TIMM50	ORPHA:505216
HP:0001270	Motor delay	3098	HK1	OMIM:618547
HP:0001270	Motor delay	84720	PIGO	OMIM:614749
HP:0001270	Motor delay	1650	DDOST	OMIM:614507
HP:0001270	Motor delay	6638	SNRPN	OMIM:105830
HP:0001270	Motor delay	6638	SNRPN	ORPHA:411515
HP:0001270	Motor delay	7337	UBE3A	OMIM:105830
HP:0001270	Motor delay	7337	UBE3A	ORPHA:411515
HP:0001270	Motor delay	5354	PLP1	ORPHA:280219
HP:0001270	Motor delay	22859	ADGRL1	OMIM:620065
HP:0001270	Motor delay	6558	SLC12A2	OMIM:619083
HP:0001270	Motor delay	283209	PGM2L1	OMIM:620191
HP:0001270	Motor delay	2521	FUS	ORPHA:300605
HP:0001270	Motor delay	80208	SPG11	ORPHA:300605
HP:0001270	Motor delay	10280	SIGMAR1	ORPHA:300605
HP:0001270	Motor delay	10558	SPTLC1	ORPHA:300605
HP:0001270	Motor delay	57679	ALS2	ORPHA:300605
HP:0001270	Motor delay	9533	POLR1C	OMIM:616494
HP:0001270	Motor delay	6261	RYR1	OMIM:117000
HP:0001270	Motor delay	6261	RYR1	OMIM:619542
HP:0001270	Motor delay	53335	BCL11A	OMIM:617101
HP:0001270	Motor delay	9474	ATG5	OMIM:617584
HP:0001270	Motor delay	4849	CNOT3	OMIM:618672
HP:0001270	Motor delay	6942	TCF20	OMIM:618430
HP:0001270	Motor delay	2542	SLC37A4	OMIM:619525
HP:0001270	Motor delay	3708	ITPR1	OMIM:117360
HP:0001270	Motor delay	9772	TMEM94	OMIM:618316
HP:0001270	Motor delay	57104	PNPLA2	OMIM:610717
HP:0001270	Motor delay	10430	TMEM147	OMIM:620075
HP:0001270	Motor delay	11152	WDR45	OMIM:300894
HP:0001270	Motor delay	4677	NARS1	OMIM:619091
HP:0001270	Motor delay	4677	NARS1	OMIM:619092
HP:0001270	Motor delay	23162	MAPK8IP3	OMIM:618443
HP:0001270	Motor delay	9922	IQSEC1	OMIM:618687
HP:0001270	Motor delay	27086	FOXP1	OMIM:613670
HP:0001270	Motor delay	55149	MTPAP	OMIM:613672
HP:0001270	Motor delay	7994	KAT6A	OMIM:616268
HP:0001270	Motor delay	23499	MACF1	OMIM:618325
HP:0001270	Motor delay	9725	TMEM63A	OMIM:618688
HP:0001270	Motor delay	1107	CHD3	OMIM:618205
HP:0001270	Motor delay	6567	SLC16A2	ORPHA:59
HP:0001270	Motor delay	1387	CREBBP	OMIM:618332
HP:0001270	Motor delay	2033	EP300	OMIM:618333
HP:0001270	Motor delay	10533	ATG7	OMIM:619422
HP:0001270	Motor delay	8295	TRRAP	OMIM:618454
HP:0001270	Motor delay	54903	MKS1	OMIM:249000
HP:0001270	Motor delay	8621	CDK13	OMIM:617360
HP:0001270	Motor delay	5888	RAD51	OMIM:617244
HP:0001270	Motor delay	22930	RAB3GAP1	OMIM:619420
HP:0001270	Motor delay	4208	MEF2C	OMIM:613443
HP:0001270	Motor delay	22907	DHX30	OMIM:617804
HP:0001270	Motor delay	6857	SYT1	OMIM:618218
HP:0001270	Motor delay	81603	TRIM8	OMIM:619428
HP:0001270	Motor delay	23534	TNPO3	OMIM:608423
HP:0001270	Motor delay	9230	RAB11B	OMIM:617807
HP:0001270	Motor delay	8905	AP1S2	OMIM:304340
HP:0001270	Motor delay	2902	GRIN1	ORPHA:208447
HP:0001270	Motor delay	10075	HUWE1	OMIM:309590
HP:0001270	Motor delay	55906	ZC4H2	OMIM:301041
HP:0001270	Motor delay	8243	SMC1A	OMIM:301044
HP:0001270	Motor delay	6134	RPL10	OMIM:300998
HP:0001270	Motor delay	1281	COL3A1	OMIM:618343
HP:0001270	Motor delay	5898	RALA	OMIM:619311
HP:0001270	Motor delay	79879	CCDC134	OMIM:619795
HP:0001270	Motor delay	1499	CTNNB1	OMIM:615075
HP:0001270	Motor delay	9759	HDAC4	OMIM:619797
HP:0001270	Motor delay	5351	PLOD1	OMIM:225400
HP:0001270	Motor delay	56896	DPYSL5	OMIM:619435
HP:0001270	Motor delay	54892	NCAPG2	OMIM:618460
HP:0001270	Motor delay	1778	DYNC1H1	OMIM:158600
HP:0001270	Motor delay	160418	TMTC3	OMIM:617255
HP:0001270	Motor delay	54517	PUS7	OMIM:618342
HP:0001270	Motor delay	124997	WDR81	OMIM:610185
HP:0001270	Motor delay	10765	KDM5B	OMIM:618109
HP:0001270	Motor delay	2290	FOXG1	OMIM:613454
HP:0001270	Motor delay	8573	CASK	OMIM:300749
HP:0001270	Motor delay	10785	WDR4	OMIM:618347
HP:0001270	Motor delay	55628	ZNF407	OMIM:619557
HP:0001270	Motor delay	8924	HERC2	OMIM:615516
HP:0001270	Motor delay	6418	SET	OMIM:618106
HP:0001270	Motor delay	56623	INPP5E	OMIM:213300
HP:0001270	Motor delay	5279	PIGC	OMIM:617816
HP:0001270	Motor delay	22845	DOLK	ORPHA:91131
HP:0001270	Motor delay	1605	DAG1	ORPHA:370997
HP:0001270	Motor delay	7707	ZNF148	OMIM:617260
HP:0001270	Motor delay	6548	SLC9A1	OMIM:616291
HP:0001270	Motor delay	10847	SRCAP	OMIM:136140
HP:0001270	Motor delay	5515	PPP2CA	OMIM:618354
HP:0001270	Motor delay	60482	SLC5A7	OMIM:617143
HP:0001270	Motor delay	23114	NFASC	OMIM:618356
HP:0001270	Motor delay	57520	HECW2	OMIM:617268
HP:0001270	Motor delay	55209	SETD5	OMIM:615761
HP:0001270	Motor delay	63895	PIEZO2	OMIM:617146
HP:0001270	Motor delay	80347	COASY	OMIM:615643
HP:0001270	Motor delay	3097	HIVEP2	OMIM:616977
HP:0001270	Motor delay	5010	CLDN11	OMIM:619328
HP:0001270	Motor delay	55033	FKBP14	OMIM:614557
HP:0001270	Motor delay	26224	FBXL3	OMIM:606220
HP:0001270	Motor delay	84679	SLC9A7	OMIM:301024
HP:0001270	Motor delay	90161	HS6ST2	OMIM:301025
HP:0001270	Motor delay	5934	RBL2	OMIM:619690
HP:0001270	Motor delay	1725	DHPS	OMIM:618480
HP:0001270	Motor delay	57190	SELENON	OMIM:602771
HP:0001270	Motor delay	4694	NDUFA1	OMIM:301020
HP:0001270	Motor delay	4784	NFIX	OMIM:602535
HP:0001270	Motor delay	10735	STAG2	OMIM:301022
HP:0001270	Motor delay	55967	NDUFA12	OMIM:618244
HP:0001270	Motor delay	8888	MCM3AP	OMIM:618124
HP:0001270	Motor delay	79641	ROGDI	OMIM:226750
HP:0001270	Motor delay	54496	PRMT7	OMIM:617157
HP:0001270	Motor delay	23345	SYNE1	OMIM:618484
HP:0001270	Motor delay	182	JAG1	OMIM:619574
HP:0001270	Motor delay	8120	AP3B2	OMIM:617276
HP:0001270	Motor delay	267010	RNU12	OMIM:620208
HP:0001270	Motor delay	10342	TFG	OMIM:615658
HP:0001270	Motor delay	84188	FAR1	OMIM:619338
HP:0001270	Motor delay	64131	XYLT1	OMIM:615777
HP:0001270	Motor delay	1737	DLAT	ORPHA:79244
HP:0001270	Motor delay	51608	GET4	OMIM:620200
HP:0001270	Motor delay	20	ABCA2	OMIM:618808
HP:0001270	Motor delay	128989	TANGO2	ORPHA:480864
HP:0001270	Motor delay	54806	AHI1	OMIM:608629
HP:0001270	Motor delay	51185	CRBN	OMIM:607417
HP:0001270	Motor delay	2898	GRIK2	OMIM:619580
HP:0001270	Motor delay	80311	KLHL15	OMIM:300982
HP:0001270	Motor delay	1781	DYNC1I2	OMIM:618492
HP:0001270	Motor delay	10943	MSL3	OMIM:301032
HP:0001270	Motor delay	6390	SDHB	OMIM:619224
HP:0001270	Motor delay	23028	KDM1A	ORPHA:477993
HP:0001270	Motor delay	63931	MRPS14	OMIM:618378
HP:0001270	Motor delay	22808	MRAS	OMIM:618499
HP:0001270	Motor delay	9758	FRMPD4	OMIM:300983
HP:0001270	Motor delay	54681	P4HTM	OMIM:618493
HP:0001270	Motor delay	80185	TTI2	OMIM:615541
HP:0001270	Motor delay	4761	NEUROD2	OMIM:618374
HP:0001270	Motor delay	523	ATP6V1A	OMIM:618012
HP:0001270	Motor delay	54664	TMEM106B	OMIM:617964
HP:0001270	Motor delay	3908	LAMA2	OMIM:618138
HP:0001270	Motor delay	6304	SATB1	OMIM:619229
HP:0001270	Motor delay	84668	HYCC1	OMIM:610532
HP:0001270	Motor delay	3930	LBR	OMIM:618019
HP:0001270	Motor delay	54551	MAGEL2	OMIM:615547
HP:0001270	Motor delay	28982	FLVCR1	OMIM:609033
HP:0001270	Motor delay	84065	TMEM222	OMIM:619470
HP:0001270	Motor delay	5977	DPF2	OMIM:618027
HP:0001270	Motor delay	27107	ZBTB11	OMIM:618383
HP:0001270	Motor delay	22866	CNKSR2	OMIM:301008
HP:0001270	Motor delay	10815	CPLX1	OMIM:617976
HP:0001270	Motor delay	7204	TRIO	OMIM:618825
HP:0001270	Motor delay	7204	TRIO	OMIM:617061
HP:0001270	Motor delay	2588	GALNS	OMIM:253000
HP:0001270	Motor delay	23040	MYT1L	OMIM:616521
HP:0001270	Motor delay	3839	KPNA3	OMIM:620106
HP:0001270	Motor delay	8452	CUL3	OMIM:619239
HP:0001270	Motor delay	10283	CWC27	OMIM:250410
HP:0001270	Motor delay	80036	TRPM3	OMIM:620224
HP:0001270	Motor delay	8405	SPOP	OMIM:618828
HP:0001270	Motor delay	8405	SPOP	OMIM:618829
HP:0001270	Motor delay	8936	WASF1	OMIM:618707
HP:0001270	Motor delay	26047	CNTNAP2	ORPHA:163681
HP:0001270	Motor delay	1457	CSNK2A1	OMIM:617062
HP:0001270	Motor delay	84197	POMK	OMIM:616094
HP:0001270	Motor delay	4841	NONO	OMIM:300967
HP:0001270	Motor delay	5058	PAK1	OMIM:618158
HP:0001270	Motor delay	200894	ARL13B	OMIM:612291
HP:0001270	Motor delay	6472	SHMT2	OMIM:619121
HP:0001270	Motor delay	23233	EXOC6B	OMIM:618395
HP:0001270	Motor delay	28952	CCDC22	OMIM:300963
HP:0001270	Motor delay	79143	MBOAT7	OMIM:617188
HP:0001270	Motor delay	57688	ZSWIM6	OMIM:617865
HP:0001270	Motor delay	2893	GRIA4	OMIM:617864
HP:0001270	Motor delay	271	AMPD2	OMIM:615686
HP:0001270	Motor delay	9215	LARGE1	OMIM:608840
HP:0001270	Motor delay	4047	LSS	OMIM:618840
HP:0001270	Motor delay	6571	SLC18A2	OMIM:618049
HP:0001270	Motor delay	54802	TRIT1	OMIM:617873
HP:0001270	Motor delay	23154	NCDN	OMIM:619373
HP:0001270	Motor delay	1315	COPB1	OMIM:619255
HP:0001270	Motor delay	51780	KDM3B	OMIM:618846
HP:0001270	Motor delay	1073	CFL2	OMIM:610687
HP:0001270	Motor delay	5430	POLR2A	OMIM:618603
HP:0001270	Motor delay	81615	TMEM163	OMIM:620243
HP:0001270	Motor delay	64802	NMNAT1	OMIM:619260
HP:0001270	Motor delay	1795	DOCK3	OMIM:618292
HP:0001270	Motor delay	11133	KPTN	ORPHA:397612
HP:0001270	Motor delay	3735	KARS1	OMIM:619147
HP:0001270	Motor delay	8665	EIF3F	OMIM:618295
HP:0001270	Motor delay	221927	BRAT1	OMIM:618056
HP:0001270	Motor delay	4281	MID1	ORPHA:2745
HP:0001270	Motor delay	1140	CHRNB1	OMIM:616313
HP:0001270	Motor delay	1460	CSNK2B	OMIM:618732
HP:0001270	Motor delay	22868	FASTKD2	OMIM:618855
HP:0001270	Motor delay	57194	ATP10A	ORPHA:411515
HP:0001270	Motor delay	57128	LYRM4	OMIM:615595
HP:0001270	Motor delay	1020	CDK5	OMIM:616342
HP:0001270	Motor delay	55180	LINS1	OMIM:614340
HP:0001270	Motor delay	125988	MICOS13	OMIM:618329
HP:0001270	Motor delay	816	CAMK2B	OMIM:617799
HP:0001270	Motor delay	51126	NAA20	OMIM:619717
HP:0001270	Motor delay	50628	GEMIN4	OMIM:617913
HP:0001270	Motor delay	7360	UGP2	OMIM:618744
HP:0001270	Motor delay	2019	EN1	OMIM:619218
HP:0001270	Motor delay	10056	FARSB	OMIM:613658
HP:0001270	Motor delay	84081	NSRP1	OMIM:620001
HP:0001270	Motor delay	9742	IFT140	OMIM:266920
HP:0001270	Motor delay	7317	UBA1	OMIM:301830
HP:0001270	Motor delay	1352	COX10	OMIM:619046
HP:0001270	Motor delay	871	SERPINH1	OMIM:613848
HP:0001270	Motor delay	4702	NDUFA8	OMIM:619272
HP:0001270	Motor delay	4204	MECP2	OMIM:300260
HP:0001270	Motor delay	57020	VPS35L	OMIM:619135
HP:0001270	Motor delay	64432	MRPS25	OMIM:619025
HP:0001270	Motor delay	90522	YIF1B	OMIM:619125
HP:0001270	Motor delay	129685	TAF8	OMIM:619972
HP:0001270	Motor delay	6651	SON	OMIM:617140
HP:0001270	Motor delay	10659	CELF2	OMIM:619561
HP:0001270	Motor delay	111	ADCY5	OMIM:619651
HP:0001270	Motor delay	535	ATP6V0A1	OMIM:619970
HP:0001270	Motor delay	80055	PGAP1	OMIM:615802
HP:0001270	Motor delay	8604	SLC25A12	OMIM:612949
HP:0006789	Mitochondrial encephalopathy	1188	CLCNKB	ORPHA:358
HP:0006789	Mitochondrial encephalopathy	6559	SLC12A3	ORPHA:358
HP:0006789	Mitochondrial encephalopathy	617	BCS1L	OMIM:124000
HP:0032649	Skewfoot	1836	SLC26A2	ORPHA:93307
HP:0032649	Skewfoot	10397	NDRG1	ORPHA:99950
HP:0032649	Skewfoot	773	CACNA1A	ORPHA:2131
HP:0032649	Skewfoot	6507	SLC1A3	ORPHA:2131
HP:0032649	Skewfoot	477	ATP1A2	ORPHA:2131
HP:0032649	Skewfoot	478	ATP1A3	ORPHA:2131
HP:0006790	Cerebral cortex with spongiform changes	5621	PRNP	OMIM:606688
HP:0006790	Cerebral cortex with spongiform changes	5621	PRNP	OMIM:600072
HP:0002472	Small cerebral cortex	55835	CENPJ	OMIM:608393
HP:0002472	Small cerebral cortex	259266	ASPM	OMIM:608716
HP:0002472	Small cerebral cortex	9928	KIF14	OMIM:617914
HP:0002472	Small cerebral cortex	8621	CDK13	OMIM:617360
HP:0002472	Small cerebral cortex	55755	CDK5RAP2	OMIM:604804
HP:0002472	Small cerebral cortex	6925	TCF4	ORPHA:2896
HP:0002472	Small cerebral cortex	79648	MCPH1	OMIM:251200
HP:0002472	Small cerebral cortex	63925	ZNF335	ORPHA:329228
HP:0012210	Abnormal renal morphology	23476	BRD4	ORPHA:199
HP:0012210	Abnormal renal morphology	9126	SMC3	ORPHA:199
HP:0012210	Abnormal renal morphology	8243	SMC1A	ORPHA:199
HP:0012210	Abnormal renal morphology	55869	HDAC8	ORPHA:199
HP:0012210	Abnormal renal morphology	92482	BBIP1	ORPHA:110
HP:0012210	Abnormal renal morphology	582	BBS1	ORPHA:110
HP:0012210	Abnormal renal morphology	49855	SCAPER	ORPHA:110
HP:0012210	Abnormal renal morphology	51057	WDPCP	ORPHA:110
HP:0012210	Abnormal renal morphology	27241	BBS9	ORPHA:110
HP:0012210	Abnormal renal morphology	84984	CEP19	ORPHA:110
HP:0012210	Abnormal renal morphology	22954	TRIM32	ORPHA:110
HP:0012210	Abnormal renal morphology	79738	BBS10	ORPHA:110
HP:0012210	Abnormal renal morphology	123016	TTC8	ORPHA:110
HP:0012210	Abnormal renal morphology	583	BBS2	ORPHA:110
HP:0012210	Abnormal renal morphology	585	BBS4	ORPHA:110
HP:0012210	Abnormal renal morphology	54585	LZTFL1	ORPHA:110
HP:0012210	Abnormal renal morphology	55212	BBS7	ORPHA:110
HP:0012210	Abnormal renal morphology	129880	BBS5	ORPHA:110
HP:0012210	Abnormal renal morphology	80173	IFT74	ORPHA:110
HP:0012210	Abnormal renal morphology	9759	HDAC4	ORPHA:1001
HP:0012210	Abnormal renal morphology	1131	CHRM3	ORPHA:2970
HP:0012210	Abnormal renal morphology	7473	WNT3	ORPHA:3301
HP:0012210	Abnormal renal morphology	340419	RSPO2	ORPHA:3301
HP:0012210	Abnormal renal morphology	8405	SPOP	OMIM:618829
HP:0012210	Abnormal renal morphology	11041	B4GAT1	OMIM:615287
HP:0012210	Abnormal renal morphology	23522	KAT6B	ORPHA:85201
HP:0012210	Abnormal renal morphology	23522	KAT6B	OMIM:606170
HP:0012210	Abnormal renal morphology	25802	LMOD1	ORPHA:2241
HP:0012210	Abnormal renal morphology	72	ACTG2	ORPHA:2241
HP:0012210	Abnormal renal morphology	4638	MYLK	ORPHA:2241
HP:0012210	Abnormal renal morphology	151188	ARL6IP6	ORPHA:1556
HP:0012210	Abnormal renal morphology	139285	AMER1	OMIM:300373
HP:0012210	Abnormal renal morphology	3978	LIG1	OMIM:619774
HP:0012210	Abnormal renal morphology	64359	NXN	ORPHA:1507
HP:0012210	Abnormal renal morphology	701	BUB1B	OMIM:257300
HP:0012210	Abnormal renal morphology	701	BUB1B	ORPHA:1052
HP:0012210	Abnormal renal morphology	80776	B9D2	ORPHA:564
HP:0012210	Abnormal renal morphology	79600	TCTN1	ORPHA:564
HP:0012210	Abnormal renal morphology	57096	RPGRIP1	ORPHA:564
HP:0012210	Abnormal renal morphology	65062	TMEM237	ORPHA:564
HP:0012210	Abnormal renal morphology	25970	SH2B1	ORPHA:261197
HP:0012210	Abnormal renal morphology	9184	BUB3	ORPHA:1052
HP:0012210	Abnormal renal morphology	699	BUB1	ORPHA:1052
HP:0012210	Abnormal renal morphology	9702	CEP57	ORPHA:1052
HP:0012210	Abnormal renal morphology	56623	INPP5E	ORPHA:1454
HP:0012210	Abnormal renal morphology	7020	TFAP2A	ORPHA:1297
HP:0012210	Abnormal renal morphology	55670	PEX26	ORPHA:912
HP:0012210	Abnormal renal morphology	5824	PEX19	ORPHA:912
HP:0012210	Abnormal renal morphology	8799	PEX11B	ORPHA:912
HP:0012210	Abnormal renal morphology	9409	PEX16	ORPHA:912
HP:0012210	Abnormal renal morphology	5190	PEX6	ORPHA:912
HP:0012210	Abnormal renal morphology	5195	PEX14	ORPHA:912
HP:0012210	Abnormal renal morphology	5192	PEX10	ORPHA:912
HP:0012210	Abnormal renal morphology	2313	FLI1	ORPHA:2308
HP:0012210	Abnormal renal morphology	3655	ITGA6	ORPHA:79403
HP:0012210	Abnormal renal morphology	9839	ZEB2	ORPHA:261537
HP:0012210	Abnormal renal morphology	9839	ZEB2	ORPHA:261552
HP:0012210	Abnormal renal morphology	4920	ROR2	OMIM:268310
HP:0012210	Abnormal renal morphology	284058	KANSL1	ORPHA:363965
HP:0012210	Abnormal renal morphology	284058	KANSL1	ORPHA:363958
HP:0012210	Abnormal renal morphology	7474	WNT5A	OMIM:180700
HP:0012210	Abnormal renal morphology	1855	DVL1	OMIM:180700
HP:0012210	Abnormal renal morphology	10653	SPINT2	OMIM:270420
HP:0012210	Abnormal renal morphology	8036	SHOC2	OMIM:607721
HP:0012210	Abnormal renal morphology	3376	IARS1	OMIM:617093
HP:0012210	Abnormal renal morphology	3376	IARS1	ORPHA:541423
HP:0012210	Abnormal renal morphology	23126	POGZ	OMIM:616364
HP:0012210	Abnormal renal morphology	23126	POGZ	ORPHA:468678
HP:0012210	Abnormal renal morphology	9487	PIGL	OMIM:280000
HP:0012210	Abnormal renal morphology	9894	TELO2	ORPHA:488642
HP:0012210	Abnormal renal morphology	8626	TP63	OMIM:604292
HP:0012210	Abnormal renal morphology	55593	OTUD5	OMIM:301056
HP:0012210	Abnormal renal morphology	80781	COL18A1	OMIM:267750
HP:0012210	Abnormal renal morphology	3909	LAMA3	ORPHA:79404
HP:0012210	Abnormal renal morphology	3918	LAMC2	ORPHA:79404
HP:0012210	Abnormal renal morphology	3914	LAMB3	ORPHA:79404
HP:0012210	Abnormal renal morphology	5700	PSMC1	OMIM:620071
HP:0012210	Abnormal renal morphology	5594	MAPK1	OMIM:619087
HP:0012210	Abnormal renal morphology	5277	PIGA	OMIM:300868
HP:0012210	Abnormal renal morphology	7148	TNXB	OMIM:615963
HP:0012210	Abnormal renal morphology	8085	KMT2D	ORPHA:2322
HP:0012210	Abnormal renal morphology	2137	EXTL3	ORPHA:508533
HP:0012210	Abnormal renal morphology	6309	SC5D	ORPHA:46059
HP:0012210	Abnormal renal morphology	6309	SC5D	OMIM:607330
HP:0012210	Abnormal renal morphology	10054	UBA2	OMIM:619959
HP:0012210	Abnormal renal morphology	6650	CAPN15	OMIM:619318
HP:0012210	Abnormal renal morphology	10274	STAG1	ORPHA:502434
HP:0012210	Abnormal renal morphology	1736	DKC1	OMIM:305000
HP:0012210	Abnormal renal morphology	27125	AFF4	ORPHA:444077
HP:0012210	Abnormal renal morphology	27125	AFF4	OMIM:616368
HP:0012210	Abnormal renal morphology	7490	WT1	ORPHA:3097
HP:0012210	Abnormal renal morphology	7490	WT1	OMIM:608978
HP:0012210	Abnormal renal morphology	29998	BICRA	OMIM:619325
HP:0012210	Abnormal renal morphology	6651	SON	OMIM:617140
HP:0012210	Abnormal renal morphology	6651	SON	ORPHA:500150
HP:0012210	Abnormal renal morphology	65993	MRPS34	OMIM:617664
HP:0012210	Abnormal renal morphology	83479	DDX59	OMIM:174300
HP:0012210	Abnormal renal morphology	9723	SEMA3E	ORPHA:138
HP:0012210	Abnormal renal morphology	7547	ZIC3	OMIM:306955
HP:0012210	Abnormal renal morphology	10584	COLEC10	OMIM:248340
HP:0012210	Abnormal renal morphology	113189	CHST14	ORPHA:2953
HP:0012210	Abnormal renal morphology	29940	DSE	ORPHA:2953
HP:0012210	Abnormal renal morphology	6597	SMARCA4	ORPHA:1465
HP:0012210	Abnormal renal morphology	6598	SMARCB1	ORPHA:1465
HP:0012210	Abnormal renal morphology	6659	SOX4	ORPHA:1465
HP:0012210	Abnormal renal morphology	8289	ARID1A	ORPHA:1465
HP:0012210	Abnormal renal morphology	5977	DPF2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6601	SMARCC2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6602	SMARCD1	ORPHA:1465
HP:0012210	Abnormal renal morphology	196528	ARID2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6605	SMARCE1	ORPHA:1465
HP:0012210	Abnormal renal morphology	6664	SOX11	ORPHA:1465
HP:0012210	Abnormal renal morphology	1147	CHUK	OMIM:613630
HP:0012210	Abnormal renal morphology	157570	ESCO2	ORPHA:2319
HP:0012210	Abnormal renal morphology	157570	ESCO2	OMIM:268300
HP:0012210	Abnormal renal morphology	157570	ESCO2	OMIM:216100
HP:0012210	Abnormal renal morphology	64093	SMOC1	ORPHA:1106
HP:0012210	Abnormal renal morphology	7319	UBE2A	OMIM:300860
HP:0012210	Abnormal renal morphology	10524	KAT5	OMIM:619103
HP:0012210	Abnormal renal morphology	7403	KDM6A	OMIM:300867
HP:0012210	Abnormal renal morphology	6885	MAP3K7	OMIM:157800
HP:0012210	Abnormal renal morphology	8241	RBM10	OMIM:311900
HP:0012210	Abnormal renal morphology	8241	RBM10	ORPHA:2886
HP:0012210	Abnormal renal morphology	3192	HNRNPU	ORPHA:238769
HP:0012210	Abnormal renal morphology	64840	PORCN	OMIM:305600
HP:0012210	Abnormal renal morphology	64840	PORCN	ORPHA:2092
HP:0012210	Abnormal renal morphology	4613	MYCN	ORPHA:391641
HP:0012210	Abnormal renal morphology	5447	POR	OMIM:201750
HP:0012210	Abnormal renal morphology	57545	CC2D2A	OMIM:612284
HP:0012210	Abnormal renal morphology	6135	RPL11	OMIM:612562
HP:0012210	Abnormal renal morphology	6135	RPL11	ORPHA:124
HP:0012210	Abnormal renal morphology	10283	CWC27	OMIM:250410
HP:0012210	Abnormal renal morphology	10283	CWC27	ORPHA:166035
HP:0012210	Abnormal renal morphology	3845	KRAS	OMIM:163200
HP:0012210	Abnormal renal morphology	4893	NRAS	OMIM:163200
HP:0012210	Abnormal renal morphology	3265	HRAS	OMIM:163200
HP:0012210	Abnormal renal morphology	2887	GRB10	ORPHA:96182
HP:0012210	Abnormal renal morphology	79228	THOC6	ORPHA:363444
HP:0012210	Abnormal renal morphology	79228	THOC6	OMIM:613680
HP:0012210	Abnormal renal morphology	78989	COLEC11	OMIM:265050
HP:0012210	Abnormal renal morphology	3187	HNRNPH1	OMIM:620083
HP:0012210	Abnormal renal morphology	6748	SSR4	ORPHA:370927
HP:0012210	Abnormal renal morphology	9319	TRIP13	OMIM:617598
HP:0012210	Abnormal renal morphology	84464	SLX4	OMIM:613951
HP:0012210	Abnormal renal morphology	9939	RBM8A	ORPHA:3320
HP:0012210	Abnormal renal morphology	9939	RBM8A	OMIM:274000
HP:0012210	Abnormal renal morphology	3110	MNX1	OMIM:176450
HP:0012210	Abnormal renal morphology	10225	CD96	ORPHA:1308
HP:0012210	Abnormal renal morphology	6138	RPL15	ORPHA:124
HP:0012210	Abnormal renal morphology	6229	RPS24	ORPHA:124
HP:0012210	Abnormal renal morphology	6125	RPL5	ORPHA:124
HP:0012210	Abnormal renal morphology	6204	RPS10	ORPHA:124
HP:0012210	Abnormal renal morphology	6224	RPS20	ORPHA:124
HP:0012210	Abnormal renal morphology	6165	RPL35A	ORPHA:124
HP:0012210	Abnormal renal morphology	2623	GATA1	ORPHA:124
HP:0012210	Abnormal renal morphology	6232	RPS27	ORPHA:124
HP:0012210	Abnormal renal morphology	11224	RPL35	ORPHA:124
HP:0012210	Abnormal renal morphology	6160	RPL31	ORPHA:124
HP:0012210	Abnormal renal morphology	6218	RPS17	ORPHA:124
HP:0012210	Abnormal renal morphology	6201	RPS7	ORPHA:124
HP:0012210	Abnormal renal morphology	6155	RPL27	ORPHA:124
HP:0012210	Abnormal renal morphology	6154	RPL26	ORPHA:124
HP:0012210	Abnormal renal morphology	6210	RPS15A	ORPHA:124
HP:0012210	Abnormal renal morphology	90121	TSR2	ORPHA:124
HP:0012210	Abnormal renal morphology	6141	RPL18	ORPHA:124
HP:0012210	Abnormal renal morphology	6235	RPS29	ORPHA:124
HP:0012210	Abnormal renal morphology	6234	RPS28	ORPHA:124
HP:0012210	Abnormal renal morphology	51816	ADA2	ORPHA:124
HP:0012210	Abnormal renal morphology	51626	DYNC2LI1	OMIM:617088
HP:0012210	Abnormal renal morphology	6736	SRY	ORPHA:1772
HP:0012210	Abnormal renal morphology	1642	DDB1	OMIM:619426
HP:0012210	Abnormal renal morphology	157657	CFAP418	OMIM:617406
HP:0012210	Abnormal renal morphology	26123	TCTN3	OMIM:614815
HP:0012210	Abnormal renal morphology	80000	GREB1L	OMIM:617805
HP:0012210	Abnormal renal morphology	168667	BMPER	OMIM:608022
HP:0012210	Abnormal renal morphology	9935	MAFB	ORPHA:233
HP:0012210	Abnormal renal morphology	1123	CHN1	ORPHA:233
HP:0012210	Abnormal renal morphology	6611	SMS	ORPHA:3063
HP:0012210	Abnormal renal morphology	6628	SNRPB	OMIM:117650
HP:0012210	Abnormal renal morphology	83700	JAM3	OMIM:613730
HP:0012210	Abnormal renal morphology	54361	WNT4	ORPHA:3109
HP:0012210	Abnormal renal morphology	9508	ADAMTS3	ORPHA:2136
HP:0012210	Abnormal renal morphology	147372	CCBE1	ORPHA:2136
HP:0012210	Abnormal renal morphology	147372	CCBE1	OMIM:235510
HP:0012210	Abnormal renal morphology	10992	SF3B2	OMIM:164210
HP:0012210	Abnormal renal morphology	81839	VANGL1	ORPHA:3027
HP:0012210	Abnormal renal morphology	80199	FUZ	ORPHA:3027
HP:0012210	Abnormal renal morphology	5932	RBBP8	OMIM:606744
HP:0012210	Abnormal renal morphology	2175	FANCA	OMIM:227650
HP:0012210	Abnormal renal morphology	92002	CCNQ	ORPHA:140952
HP:0012210	Abnormal renal morphology	8239	USP9X	OMIM:300919
HP:0012210	Abnormal renal morphology	23384	SPECC1L	ORPHA:1519
HP:0012210	Abnormal renal morphology	6231	RPS26	OMIM:613309
HP:0012210	Abnormal renal morphology	1763	DNA2	OMIM:615807
HP:0012210	Abnormal renal morphology	2177	FANCD2	OMIM:227646
HP:0012210	Abnormal renal morphology	2176	FANCC	OMIM:227645
HP:0012210	Abnormal renal morphology	3239	HOXD13	ORPHA:887
HP:0012210	Abnormal renal morphology	2178	FANCE	OMIM:600901
HP:0012210	Abnormal renal morphology	54101	RIPK4	OMIM:263650
HP:0012210	Abnormal renal morphology	7516	XRCC2	OMIM:617247
HP:0012210	Abnormal renal morphology	90417	KNSTRN	OMIM:613328
HP:0012210	Abnormal renal morphology	5293	PIK3CD	OMIM:613328
HP:0012210	Abnormal renal morphology	11005	SPINK5	ORPHA:634
HP:0012210	Abnormal renal morphology	5290	PIK3CA	OMIM:612918
HP:0012210	Abnormal renal morphology	22827	PUF60	ORPHA:508498
HP:0012210	Abnormal renal morphology	22827	PUF60	OMIM:615583
HP:0012210	Abnormal renal morphology	5076	PAX2	ORPHA:97362
HP:0012210	Abnormal renal morphology	5076	PAX2	ORPHA:1475
HP:0012210	Abnormal renal morphology	5076	PAX2	OMIM:616002
HP:0012210	Abnormal renal morphology	5076	PAX2	OMIM:120330
HP:0012210	Abnormal renal morphology	5087	PBX1	ORPHA:97362
HP:0012210	Abnormal renal morphology	5087	PBX1	OMIM:617641
HP:0012210	Abnormal renal morphology	341640	FREM2	ORPHA:2052
HP:0012210	Abnormal renal morphology	341640	FREM2	OMIM:617666
HP:0012210	Abnormal renal morphology	80144	FRAS1	ORPHA:2052
HP:0012210	Abnormal renal morphology	80144	FRAS1	OMIM:219000
HP:0012210	Abnormal renal morphology	23426	GRIP1	ORPHA:2052
HP:0012210	Abnormal renal morphology	54892	NCAPG2	OMIM:618460
HP:0012210	Abnormal renal morphology	11020	IFT27	OMIM:615996
HP:0012210	Abnormal renal morphology	1161	ERCC8	ORPHA:90324
HP:0012210	Abnormal renal morphology	2074	ERCC6	ORPHA:90324
HP:0012210	Abnormal renal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012210	Abnormal renal morphology	4774	NFIA	OMIM:613735
HP:0012210	Abnormal renal morphology	57167	SALL4	OMIM:607323
HP:0012210	Abnormal renal morphology	4838	NODAL	OMIM:270100
HP:0012210	Abnormal renal morphology	64220	STRA6	OMIM:601186
HP:0012210	Abnormal renal morphology	64220	STRA6	ORPHA:2470
HP:0012210	Abnormal renal morphology	6299	SALL1	OMIM:107480
HP:0012210	Abnormal renal morphology	6299	SALL1	ORPHA:857
HP:0012210	Abnormal renal morphology	55112	DYNC2I1	ORPHA:93271
HP:0012210	Abnormal renal morphology	57560	IFT80	ORPHA:93271
HP:0012210	Abnormal renal morphology	57539	WDR35	ORPHA:93271
HP:0012210	Abnormal renal morphology	57539	WDR35	OMIM:614091
HP:0012210	Abnormal renal morphology	79659	DYNC2H1	ORPHA:93271
HP:0012210	Abnormal renal morphology	89891	DYNC2I2	ORPHA:93271
HP:0012210	Abnormal renal morphology	23498	HAAO	OMIM:617660
HP:0012210	Abnormal renal morphology	55159	RFWD3	OMIM:617784
HP:0012210	Abnormal renal morphology	8942	KYNU	OMIM:617661
HP:0012210	Abnormal renal morphology	8882	ZPR1	OMIM:619321
HP:0012210	Abnormal renal morphology	3313	HSPA9	OMIM:616854
HP:0012210	Abnormal renal morphology	55215	FANCI	OMIM:609053
HP:0012210	Abnormal renal morphology	23291	FBXW11	OMIM:618914
HP:0012210	Abnormal renal morphology	6092	ROBO2	OMIM:610878
HP:0012210	Abnormal renal morphology	6926	TBX3	ORPHA:3138
HP:0012210	Abnormal renal morphology	2188	FANCF	OMIM:603467
HP:0012210	Abnormal renal morphology	84987	COX14	OMIM:619053
HP:0012210	Abnormal renal morphology	57492	ARID1B	OMIM:135900
HP:0012210	Abnormal renal morphology	3899	AFF3	OMIM:619297
HP:0012210	Abnormal renal morphology	54496	PRMT7	OMIM:617157
HP:0012210	Abnormal renal morphology	54496	PRMT7	ORPHA:464288
HP:0012210	Abnormal renal morphology	6928	HNF1B	OMIM:137920
HP:0012210	Abnormal renal morphology	54567	DLL4	OMIM:616589
HP:0012210	Abnormal renal morphology	1312	COMT	ORPHA:567
HP:0012210	Abnormal renal morphology	221037	JMJD1C	ORPHA:567
HP:0012210	Abnormal renal morphology	2812	GP1BB	ORPHA:567
HP:0012210	Abnormal renal morphology	6239	RREB1	ORPHA:567
HP:0012210	Abnormal renal morphology	6899	TBX1	ORPHA:567
HP:0012210	Abnormal renal morphology	7290	HIRA	ORPHA:567
HP:0012210	Abnormal renal morphology	9632	SEC24C	ORPHA:567
HP:0012210	Abnormal renal morphology	7353	UFD1	ORPHA:567
HP:0012210	Abnormal renal morphology	421	ARVCF	ORPHA:567
HP:0012210	Abnormal renal morphology	91647	ATPAF2	OMIM:604273
HP:0012210	Abnormal renal morphology	25778	DSTYK	OMIM:610805
HP:0012210	Abnormal renal morphology	1717	DHCR7	OMIM:270400
HP:0012210	Abnormal renal morphology	652	BMP4	OMIM:607932
HP:0012210	Abnormal renal morphology	8091	HMGA2	ORPHA:94063
HP:0012210	Abnormal renal morphology	23592	LEMD3	ORPHA:94063
HP:0012210	Abnormal renal morphology	1822	ATN1	OMIM:618494
HP:0012210	Abnormal renal morphology	5147	PDE6D	OMIM:615665
HP:0012210	Abnormal renal morphology	55636	CHD7	OMIM:214800
HP:0012210	Abnormal renal morphology	79633	FAT4	OMIM:615546
HP:0012210	Abnormal renal morphology	79633	FAT4	ORPHA:314679
HP:0012210	Abnormal renal morphology	4582	MUC1	OMIM:174000
HP:0012210	Abnormal renal morphology	8642	DCHS1	OMIM:601390
HP:0012210	Abnormal renal morphology	8642	DCHS1	ORPHA:314679
HP:0012210	Abnormal renal morphology	9096	TBX18	OMIM:143400
HP:0012210	Abnormal renal morphology	2737	GLI3	OMIM:146510
HP:0012210	Abnormal renal morphology	5972	REN	OMIM:613092
HP:0012210	Abnormal renal morphology	8260	NAA10	OMIM:309800
HP:0012210	Abnormal renal morphology	54880	BCOR	OMIM:309800
HP:0012210	Abnormal renal morphology	145173	B3GLCT	OMIM:261540
HP:0012210	Abnormal renal morphology	6804	STX1A	ORPHA:904
HP:0012210	Abnormal renal morphology	7461	CLIP2	ORPHA:904
HP:0012210	Abnormal renal morphology	84277	DNAJC30	ORPHA:904
HP:0012210	Abnormal renal morphology	8468	FKBP6	ORPHA:904
HP:0012210	Abnormal renal morphology	5982	RFC2	ORPHA:904
HP:0012210	Abnormal renal morphology	2969	GTF2I	ORPHA:904
HP:0012210	Abnormal renal morphology	3984	LIMK1	ORPHA:904
HP:0012210	Abnormal renal morphology	9569	GTF2IRD1	ORPHA:904
HP:0012210	Abnormal renal morphology	155382	VPS37D	ORPHA:904
HP:0012210	Abnormal renal morphology	155368	METTL27	ORPHA:904
HP:0012210	Abnormal renal morphology	114049	BUD23	ORPHA:904
HP:0012210	Abnormal renal morphology	7458	EIF4H	ORPHA:904
HP:0012210	Abnormal renal morphology	84163	GTF2IRD2	ORPHA:904
HP:0012210	Abnormal renal morphology	9275	BCL7B	ORPHA:904
HP:0012210	Abnormal renal morphology	26608	TBL2	ORPHA:904
HP:0012210	Abnormal renal morphology	653361	NCF1	ORPHA:904
HP:0012210	Abnormal renal morphology	135886	TMEM270	ORPHA:904
HP:0012210	Abnormal renal morphology	51085	MLXIPL	ORPHA:904
HP:0012210	Abnormal renal morphology	51085	MLXIPL	OMIM:194050
HP:0012210	Abnormal renal morphology	9031	BAZ1B	ORPHA:904
HP:0012210	Abnormal renal morphology	2006	ELN	ORPHA:904
HP:0012210	Abnormal renal morphology	2006	ELN	OMIM:194050
HP:0012210	Abnormal renal morphology	8364	H4C3	OMIM:619758
HP:0012210	Abnormal renal morphology	55165	CEP55	OMIM:236500
HP:0012210	Abnormal renal morphology	10907	TXNL4A	OMIM:608572
HP:0012210	Abnormal renal morphology	8204	NRIP1	OMIM:618270
HP:0012210	Abnormal renal morphology	284252	KCTD1	OMIM:181270
HP:0012210	Abnormal renal morphology	374879	ZNF699	OMIM:619488
HP:0012210	Abnormal renal morphology	9928	KIF14	OMIM:616258
HP:0012210	Abnormal renal morphology	9928	KIF14	OMIM:617914
HP:0012210	Abnormal renal morphology	51473	DCDC2	ORPHA:84081
HP:0012210	Abnormal renal morphology	91147	TMEM67	ORPHA:84081
HP:0012210	Abnormal renal morphology	182	JAG1	OMIM:118450
HP:0012210	Abnormal renal morphology	2263	FGFR2	ORPHA:2363
HP:0012210	Abnormal renal morphology	2261	FGFR3	ORPHA:2363
HP:0012210	Abnormal renal morphology	2255	FGF10	ORPHA:2363
HP:0012210	Abnormal renal morphology	51339	DACT1	ORPHA:857
HP:0012210	Abnormal renal morphology	84919	PPP1R15B	OMIM:616817
HP:0012210	Abnormal renal morphology	63895	PIEZO2	OMIM:248700
HP:0012210	Abnormal renal morphology	10084	PQBP1	OMIM:309500
HP:0012210	Abnormal renal morphology	5915	RARB	ORPHA:2470
HP:0012210	Abnormal renal morphology	55120	FANCL	OMIM:614083
HP:0012210	Abnormal renal morphology	153241	CEP120	OMIM:616300
HP:0012210	Abnormal renal morphology	7518	XRCC4	OMIM:616541
HP:0012210	Abnormal renal morphology	4193	MDM2	OMIM:618681
HP:0012210	Abnormal renal morphology	10463	SLC30A9	OMIM:617595
HP:0012210	Abnormal renal morphology	51360	MBTPS2	ORPHA:85284
HP:0012210	Abnormal renal morphology	546	ATRX	OMIM:309580
HP:0012210	Abnormal renal morphology	5885	RAD21	OMIM:611376
HP:0012210	Abnormal renal morphology	25836	NIPBL	OMIM:122470
HP:0012210	Abnormal renal morphology	50628	GEMIN4	OMIM:617913
HP:0012210	Abnormal renal morphology	55005	RMND1	OMIM:614922
HP:0012210	Abnormal renal morphology	5557	PRIM1	OMIM:620005
HP:0012210	Abnormal renal morphology	4853	NOTCH2	OMIM:610205
HP:0012210	Abnormal renal morphology	84100	ARL6	OMIM:600151
HP:0012210	Abnormal renal morphology	6223	RPS19	OMIM:105650
HP:0012210	Abnormal renal morphology	8295	TRRAP	OMIM:618454
HP:0012210	Abnormal renal morphology	9652	SKIC3	ORPHA:84064
HP:0012210	Abnormal renal morphology	6499	SKIC2	ORPHA:84064
HP:0012210	Abnormal renal morphology	57728	WDR19	OMIM:614376
HP:0012210	Abnormal renal morphology	57728	WDR19	OMIM:614377
HP:0012210	Abnormal renal morphology	4654	MYOD1	OMIM:618975
HP:0012210	Abnormal renal morphology	27152	INTU	OMIM:617926
HP:0012210	Abnormal renal morphology	3762	KCNJ5	ORPHA:37553
HP:0012210	Abnormal renal morphology	3759	KCNJ2	ORPHA:37553
HP:0012210	Abnormal renal morphology	4038	LRP4	OMIM:212780
HP:0012210	Abnormal renal morphology	26160	IFT172	ORPHA:474
HP:0012210	Abnormal renal morphology	26160	IFT172	OMIM:615630
HP:0012210	Abnormal renal morphology	9742	IFT140	ORPHA:474
HP:0012210	Abnormal renal morphology	9742	IFT140	OMIM:266920
HP:0012210	Abnormal renal morphology	79809	TTC21B	ORPHA:474
HP:0012210	Abnormal renal morphology	79809	TTC21B	OMIM:613820
HP:0012210	Abnormal renal morphology	261734	NPHP4	OMIM:606996
HP:0012210	Abnormal renal morphology	261734	NPHP4	OMIM:606966
HP:0012210	Abnormal renal morphology	261734	NPHP4	ORPHA:3156
HP:0012210	Abnormal renal morphology	23005	MAPKBP1	OMIM:617271
HP:0012210	Abnormal renal morphology	23322	RPGRIP1L	OMIM:619113
HP:0012210	Abnormal renal morphology	23322	RPGRIP1L	OMIM:611560
HP:0012210	Abnormal renal morphology	95681	CEP41	OMIM:614464
HP:0012210	Abnormal renal morphology	51524	TMEM138	OMIM:614465
HP:0012210	Abnormal renal morphology	80184	CEP290	OMIM:610188
HP:0012210	Abnormal renal morphology	80184	CEP290	ORPHA:3156
HP:0012210	Abnormal renal morphology	23090	ZNF423	OMIM:614844
HP:0012210	Abnormal renal morphology	63929	XPNPEP3	OMIM:613159
HP:0012210	Abnormal renal morphology	22897	CEP164	OMIM:614845
HP:0012210	Abnormal renal morphology	22897	CEP164	ORPHA:3156
HP:0012210	Abnormal renal morphology	84662	GLIS2	OMIM:611498
HP:0012210	Abnormal renal morphology	51259	TMEM216	OMIM:608091
HP:0012210	Abnormal renal morphology	10806	SDCCAG8	OMIM:613615
HP:0012210	Abnormal renal morphology	10806	SDCCAG8	ORPHA:3156
HP:0012210	Abnormal renal morphology	26146	TRAF3IP1	OMIM:616629
HP:0012210	Abnormal renal morphology	26146	TRAF3IP1	ORPHA:3156
HP:0012210	Abnormal renal morphology	4867	NPHP1	OMIM:609583
HP:0012210	Abnormal renal morphology	4867	NPHP1	OMIM:266900
HP:0012210	Abnormal renal morphology	4867	NPHP1	ORPHA:3156
HP:0012210	Abnormal renal morphology	4867	NPHP1	OMIM:256100
HP:0012210	Abnormal renal morphology	54806	AHI1	OMIM:608629
HP:0012210	Abnormal renal morphology	203286	ANKS6	OMIM:615382
HP:0012210	Abnormal renal morphology	9321	TRIP11	OMIM:184260
HP:0012210	Abnormal renal morphology	112752	IFT43	OMIM:614099
HP:0012210	Abnormal renal morphology	51134	CEP83	OMIM:615862
HP:0012210	Abnormal renal morphology	284086	NEK8	OMIM:613824
HP:0012210	Abnormal renal morphology	9657	IQCB1	ORPHA:3156
HP:0012210	Abnormal renal morphology	9657	IQCB1	OMIM:609254
HP:0012210	Abnormal renal morphology	27130	INVS	ORPHA:3156
HP:0012210	Abnormal renal morphology	27130	INVS	OMIM:602088
HP:0012210	Abnormal renal morphology	27031	NPHP3	ORPHA:3156
HP:0012210	Abnormal renal morphology	27031	NPHP3	OMIM:604387
HP:0012210	Abnormal renal morphology	22909	FAN1	OMIM:614817
HP:0012210	Abnormal renal morphology	56945	MRPS22	OMIM:611719
HP:0012210	Abnormal renal morphology	5373	PMM2	ORPHA:79318
HP:0012210	Abnormal renal morphology	4536	MT-ND2	ORPHA:255210
HP:0012210	Abnormal renal morphology	4537	MT-ND3	ORPHA:255210
HP:0012210	Abnormal renal morphology	4577	MT-TV	ORPHA:255210
HP:0012210	Abnormal renal morphology	4508	MT-ATP6	ORPHA:255210
HP:0012210	Abnormal renal morphology	4566	MT-TK	ORPHA:255210
HP:0012210	Abnormal renal morphology	23729	SHPK	ORPHA:440713
HP:0012210	Abnormal renal morphology	56606	SLC2A9	ORPHA:94088
HP:0012210	Abnormal renal morphology	116085	SLC22A12	ORPHA:94088
HP:0012210	Abnormal renal morphology	4952	OCRL	ORPHA:534
HP:0012210	Abnormal renal morphology	2717	GLA	ORPHA:324
HP:0012210	Abnormal renal morphology	25915	NDUFAF3	ORPHA:70474
HP:0012210	Abnormal renal morphology	4714	NDUFB8	ORPHA:70474
HP:0012210	Abnormal renal morphology	4720	NDUFS2	ORPHA:70474
HP:0012210	Abnormal renal morphology	9997	SCO2	ORPHA:70474
HP:0012210	Abnormal renal morphology	6834	SURF1	ORPHA:70474
HP:0012210	Abnormal renal morphology	7369	UMOD	OMIM:162000
HP:0012210	Abnormal renal morphology	26276	VPS33B	OMIM:208085
HP:0012210	Abnormal renal morphology	54345	SOX18	OMIM:137940
HP:0012210	Abnormal renal morphology	8518	ELP1	OMIM:223900
HP:0012210	Abnormal renal morphology	11277	TREX1	ORPHA:247691
HP:0012210	Abnormal renal morphology	100147744	RNU7-1	OMIM:619487
HP:0012210	Abnormal renal morphology	9722	NOS1AP	OMIM:619155
HP:0012210	Abnormal renal morphology	5339	PLEC	ORPHA:158684
HP:0012210	Abnormal renal morphology	3691	ITGB4	ORPHA:158684
HP:0012210	Abnormal renal morphology	7428	VHL	ORPHA:29072
HP:0012210	Abnormal renal morphology	7428	VHL	ORPHA:276621
HP:0012210	Abnormal renal morphology	1743	DLST	ORPHA:29072
HP:0012210	Abnormal renal morphology	4191	MDH2	ORPHA:29072
HP:0012210	Abnormal renal morphology	5979	RET	ORPHA:29072
HP:0012210	Abnormal renal morphology	5979	RET	ORPHA:276621
HP:0012210	Abnormal renal morphology	6389	SDHA	ORPHA:29072
HP:0012210	Abnormal renal morphology	23095	KIF1B	ORPHA:29072
HP:0012210	Abnormal renal morphology	2271	FH	ORPHA:29072
HP:0012210	Abnormal renal morphology	8402	SLC25A11	ORPHA:29072
HP:0012210	Abnormal renal morphology	54949	SDHAF2	ORPHA:29072
HP:0012210	Abnormal renal morphology	55654	TMEM127	ORPHA:29072
HP:0012210	Abnormal renal morphology	4763	NF1	ORPHA:29072
HP:0012210	Abnormal renal morphology	6391	SDHC	ORPHA:29072
HP:0012210	Abnormal renal morphology	6392	SDHD	ORPHA:29072
HP:0012210	Abnormal renal morphology	6392	SDHD	ORPHA:276621
HP:0012210	Abnormal renal morphology	6390	SDHB	ORPHA:29072
HP:0012210	Abnormal renal morphology	6390	SDHB	ORPHA:276621
HP:0012210	Abnormal renal morphology	4149	MAX	ORPHA:29072
HP:0012210	Abnormal renal morphology	1788	DNMT3A	ORPHA:276621
HP:0012210	Abnormal renal morphology	2034	EPAS1	ORPHA:276621
HP:0012210	Abnormal renal morphology	2184	FAH	OMIM:276700
HP:0012210	Abnormal renal morphology	55644	OSGEP	OMIM:617729
HP:0012210	Abnormal renal morphology	7225	TRPC6	OMIM:603965
HP:0012210	Abnormal renal morphology	7225	TRPC6	ORPHA:656
HP:0012210	Abnormal renal morphology	4558	MT-TF	ORPHA:550
HP:0012210	Abnormal renal morphology	4572	MT-TQ	ORPHA:550
HP:0012210	Abnormal renal morphology	4512	MT-CO1	ORPHA:550
HP:0012210	Abnormal renal morphology	4513	MT-CO2	ORPHA:550
HP:0012210	Abnormal renal morphology	4514	MT-CO3	ORPHA:550
HP:0012210	Abnormal renal morphology	4578	MT-TW	ORPHA:550
HP:0012210	Abnormal renal morphology	4540	MT-ND5	ORPHA:550
HP:0012210	Abnormal renal morphology	4541	MT-ND6	ORPHA:550
HP:0012210	Abnormal renal morphology	4535	MT-ND1	ORPHA:550
HP:0012210	Abnormal renal morphology	4538	MT-ND4	ORPHA:550
HP:0012210	Abnormal renal morphology	4567	MT-TL1	ORPHA:550
HP:0012210	Abnormal renal morphology	4574	MT-TS1	ORPHA:550
HP:0012210	Abnormal renal morphology	4575	MT-TS2	ORPHA:550
HP:0012210	Abnormal renal morphology	4564	MT-TH	ORPHA:550
HP:0012210	Abnormal renal morphology	112858	TP53RK	OMIM:617730
HP:0012210	Abnormal renal morphology	8879	SGPL1	OMIM:617575
HP:0012210	Abnormal renal morphology	8270	LAGE3	OMIM:301006
HP:0012210	Abnormal renal morphology	29927	SEC61A1	OMIM:617056
HP:0012210	Abnormal renal morphology	51002	TPRKB	OMIM:617731
HP:0012210	Abnormal renal morphology	10785	WDR4	OMIM:618347
HP:0012210	Abnormal renal morphology	57122	NUP107	OMIM:618348
HP:0012210	Abnormal renal morphology	57122	NUP107	OMIM:616730
HP:0012210	Abnormal renal morphology	57122	NUP107	ORPHA:656
HP:0012210	Abnormal renal morphology	55746	NUP133	OMIM:618349
HP:0012210	Abnormal renal morphology	55746	NUP133	ORPHA:656
HP:0012210	Abnormal renal morphology	55746	NUP133	OMIM:618177
HP:0012210	Abnormal renal morphology	84942	WDR73	OMIM:251300
HP:0012210	Abnormal renal morphology	3675	ITGA3	OMIM:614748
HP:0012210	Abnormal renal morphology	1184	CLCN5	OMIM:308990
HP:0012210	Abnormal renal morphology	2542	SLC37A4	OMIM:232220
HP:0012210	Abnormal renal morphology	2542	SLC37A4	OMIM:232240
HP:0012210	Abnormal renal morphology	81	ACTN4	OMIM:603278
HP:0012210	Abnormal renal morphology	81	ACTN4	ORPHA:656
HP:0012210	Abnormal renal morphology	23607	CD2AP	OMIM:607832
HP:0012210	Abnormal renal morphology	23607	CD2AP	ORPHA:656
HP:0012210	Abnormal renal morphology	55243	KIRREL1	OMIM:619201
HP:0012210	Abnormal renal morphology	10651	MTX2	OMIM:619127
HP:0012210	Abnormal renal morphology	23165	NUP205	OMIM:616893
HP:0012210	Abnormal renal morphology	23165	NUP205	ORPHA:656
HP:0012210	Abnormal renal morphology	9688	NUP93	OMIM:616892
HP:0012210	Abnormal renal morphology	9688	NUP93	ORPHA:656
HP:0012210	Abnormal renal morphology	5800	PTPRO	OMIM:614196
HP:0012210	Abnormal renal morphology	5800	PTPRO	ORPHA:656
HP:0012210	Abnormal renal morphology	50485	SMARCAL1	ORPHA:1830
HP:0012210	Abnormal renal morphology	50485	SMARCAL1	OMIM:242900
HP:0012210	Abnormal renal morphology	65082	VPS33A	OMIM:617303
HP:0012210	Abnormal renal morphology	84520	GON7	OMIM:619603
HP:0012210	Abnormal renal morphology	4868	NPHS1	ORPHA:656
HP:0012210	Abnormal renal morphology	4643	MYO1E	ORPHA:656
HP:0012210	Abnormal renal morphology	4643	MYO1E	OMIM:614131
HP:0012210	Abnormal renal morphology	64423	INF2	ORPHA:656
HP:0012210	Abnormal renal morphology	64423	INF2	OMIM:613237
HP:0012210	Abnormal renal morphology	64423	INF2	OMIM:614455
HP:0012210	Abnormal renal morphology	26130	GAPVD1	ORPHA:656
HP:0012210	Abnormal renal morphology	51479	ANKFY1	ORPHA:656
HP:0012210	Abnormal renal morphology	54443	ANLN	ORPHA:656
HP:0012210	Abnormal renal morphology	54443	ANLN	OMIM:616032
HP:0012210	Abnormal renal morphology	286204	CRB2	ORPHA:656
HP:0012210	Abnormal renal morphology	286204	CRB2	OMIM:616220
HP:0012210	Abnormal renal morphology	2013	EMP2	ORPHA:656
HP:0012210	Abnormal renal morphology	79023	NUP37	ORPHA:656
HP:0012210	Abnormal renal morphology	51196	PLCE1	ORPHA:656
HP:0012210	Abnormal renal morphology	51196	PLCE1	OMIM:610725
HP:0012210	Abnormal renal morphology	79902	NUP85	ORPHA:656
HP:0012210	Abnormal renal morphology	79902	NUP85	OMIM:618176
HP:0012210	Abnormal renal morphology	396	ARHGDIA	ORPHA:656
HP:0012210	Abnormal renal morphology	79934	COQ8B	ORPHA:656
HP:0012210	Abnormal renal morphology	79934	COQ8B	OMIM:615573
HP:0012210	Abnormal renal morphology	23279	NUP160	ORPHA:656
HP:0012210	Abnormal renal morphology	23279	NUP160	OMIM:618178
HP:0012210	Abnormal renal morphology	9863	MAGI2	ORPHA:656
HP:0012210	Abnormal renal morphology	8542	APOL1	ORPHA:656
HP:0012210	Abnormal renal morphology	8542	APOL1	OMIM:612551
HP:0012210	Abnormal renal morphology	54885	TBC1D8B	ORPHA:656
HP:0012210	Abnormal renal morphology	54885	TBC1D8B	OMIM:301028
HP:0012210	Abnormal renal morphology	7827	NPHS2	ORPHA:656
HP:0012210	Abnormal renal morphology	7827	NPHS2	OMIM:600995
HP:0012210	Abnormal renal morphology	83478	ARHGAP24	ORPHA:656
HP:0012210	Abnormal renal morphology	23500	DAAM2	ORPHA:656
HP:0012210	Abnormal renal morphology	23500	DAAM2	OMIM:619263
HP:0012210	Abnormal renal morphology	27235	COQ2	OMIM:607426
HP:0012210	Abnormal renal morphology	2538	G6PC1	OMIM:232200
HP:0012210	Abnormal renal morphology	3911	LAMA5	OMIM:620049
HP:0012210	Abnormal renal morphology	51004	COQ6	OMIM:614650
HP:0012210	Abnormal renal morphology	79731	NARS2	OMIM:616239
HP:0012210	Abnormal renal morphology	950	SCARB2	OMIM:254900
HP:0012210	Abnormal renal morphology	1188	CLCNKB	ORPHA:358
HP:0012210	Abnormal renal morphology	6559	SLC12A3	ORPHA:358
HP:0012210	Abnormal renal morphology	7840	ALMS1	ORPHA:64
HP:0012210	Abnormal renal morphology	9056	SLC7A7	ORPHA:470
HP:0012210	Abnormal renal morphology	355	FAS	ORPHA:3261
HP:0012210	Abnormal renal morphology	356	FASLG	ORPHA:3261
HP:0012210	Abnormal renal morphology	5580	PRKCD	ORPHA:3261
HP:0012210	Abnormal renal morphology	843	CASP10	ORPHA:3261
HP:0012210	Abnormal renal morphology	10125	RASGRP1	ORPHA:3261
HP:0012210	Abnormal renal morphology	720	C4A	OMIM:614380
HP:0012210	Abnormal renal morphology	8651	SOCS1	OMIM:619375
HP:0012210	Abnormal renal morphology	975	CD81	OMIM:613496
HP:0012210	Abnormal renal morphology	3426	CFI	OMIM:610984
HP:0012210	Abnormal renal morphology	1285	COL4A3	OMIM:104200
HP:0012210	Abnormal renal morphology	50943	FOXP3	OMIM:304790
HP:0012210	Abnormal renal morphology	81494	CFHR5	OMIM:614809
HP:0012210	Abnormal renal morphology	4010	LMX1B	OMIM:161200
HP:0012210	Abnormal renal morphology	4312	MMP1	ORPHA:79408
HP:0012210	Abnormal renal morphology	1294	COL7A1	ORPHA:79408
HP:0012210	Abnormal renal morphology	4311	MME	ORPHA:69063
HP:0012210	Abnormal renal morphology	81603	TRIM8	OMIM:619428
HP:0012210	Abnormal renal morphology	7484	WNT9B	ORPHA:1848
HP:0012210	Abnormal renal morphology	28514	DLL1	ORPHA:280200
HP:0012210	Abnormal renal morphology	2253	FGF8	ORPHA:280200
HP:0012210	Abnormal renal morphology	2253	FGF8	ORPHA:478
HP:0012210	Abnormal renal morphology	6496	SIX3	ORPHA:280200
HP:0012210	Abnormal renal morphology	7050	TGIF1	ORPHA:280200
HP:0012210	Abnormal renal morphology	51684	SUFU	ORPHA:280200
HP:0012210	Abnormal renal morphology	7546	ZIC2	ORPHA:280200
HP:0012210	Abnormal renal morphology	2619	GAS1	ORPHA:280200
HP:0012210	Abnormal renal morphology	84976	DISP1	ORPHA:280200
HP:0012210	Abnormal renal morphology	2736	GLI2	ORPHA:280200
HP:0012210	Abnormal renal morphology	8928	FOXH1	ORPHA:280200
HP:0012210	Abnormal renal morphology	5727	PTCH1	ORPHA:280200
HP:0012210	Abnormal renal morphology	50937	CDON	ORPHA:280200
HP:0012210	Abnormal renal morphology	3640	INSL3	OMIM:219050
HP:0012210	Abnormal renal morphology	10371	SEMA3A	ORPHA:478
HP:0012210	Abnormal renal morphology	81848	SPRY4	ORPHA:478
HP:0012210	Abnormal renal morphology	23767	FLRT3	ORPHA:478
HP:0012210	Abnormal renal morphology	79625	NDNF	ORPHA:478
HP:0012210	Abnormal renal morphology	389549	FEZF1	ORPHA:478
HP:0012210	Abnormal renal morphology	1630	DCC	ORPHA:478
HP:0012210	Abnormal renal morphology	54756	IL17RD	ORPHA:478
HP:0012210	Abnormal renal morphology	6663	SOX10	ORPHA:478
HP:0012210	Abnormal renal morphology	285025	CCDC141	ORPHA:478
HP:0012210	Abnormal renal morphology	60675	PROK2	ORPHA:478
HP:0012210	Abnormal renal morphology	1848	DUSP6	ORPHA:478
HP:0012210	Abnormal renal morphology	6870	TACR3	ORPHA:478
HP:0012210	Abnormal renal morphology	55717	WDR11	ORPHA:478
HP:0012210	Abnormal renal morphology	9394	HS6ST1	ORPHA:478
HP:0012210	Abnormal renal morphology	8820	HESX1	ORPHA:478
HP:0012210	Abnormal renal morphology	8822	FGF17	ORPHA:478
HP:0012210	Abnormal renal morphology	26227	PHGDH	OMIM:256520
HP:0012210	Abnormal renal morphology	51422	PRKAG2	OMIM:261740
HP:0012210	Abnormal renal morphology	23394	ADNP	OMIM:615873
HP:0012210	Abnormal renal morphology	23405	DICER1	OMIM:618272
HP:0012210	Abnormal renal morphology	11311	VPS45	OMIM:615285
HP:0012210	Abnormal renal morphology	79158	GNPTAB	OMIM:252500
HP:0012210	Abnormal renal morphology	745	MYRF	OMIM:618280
HP:0012210	Abnormal renal morphology	55315	SLC29A3	ORPHA:168569
HP:0012210	Abnormal renal morphology	3767	KCNJ11	ORPHA:552
HP:0012210	Abnormal renal morphology	8462	KLF11	ORPHA:552
HP:0012210	Abnormal renal morphology	2645	GCK	ORPHA:552
HP:0012210	Abnormal renal morphology	26060	APPL1	ORPHA:552
HP:0012210	Abnormal renal morphology	640	BLK	ORPHA:552
HP:0012210	Abnormal renal morphology	1056	CEL	ORPHA:552
HP:0012210	Abnormal renal morphology	4760	NEUROD1	ORPHA:552
HP:0012210	Abnormal renal morphology	3651	PDX1	ORPHA:552
HP:0012210	Abnormal renal morphology	6833	ABCC8	ORPHA:552
HP:0012210	Abnormal renal morphology	5078	PAX4	ORPHA:552
HP:0012210	Abnormal renal morphology	6927	HNF1A	ORPHA:552
HP:0012210	Abnormal renal morphology	3630	INS	ORPHA:552
HP:0012210	Abnormal renal morphology	6718	AKR1D1	ORPHA:79303
HP:0012210	Abnormal renal morphology	7086	TKT	ORPHA:488618
HP:0012210	Abnormal renal morphology	4519	MT-CYB	ORPHA:137675
HP:0012210	Abnormal renal morphology	5728	PTEN	ORPHA:744
HP:0012210	Abnormal renal morphology	207	AKT1	ORPHA:744
HP:0012210	Abnormal renal morphology	4437	MSH3	OMIM:617100
HP:0012210	Abnormal renal morphology	4437	MSH3	ORPHA:480536
HP:0012210	Abnormal renal morphology	4351	MPI	OMIM:602579
HP:0012210	Abnormal renal morphology	79053	ALG8	OMIM:617874
HP:0012210	Abnormal renal morphology	54916	TMEM260	OMIM:617478
HP:0012210	Abnormal renal morphology	3295	HSD17B4	OMIM:261515
HP:0012210	Abnormal renal morphology	83483	PLVAP	OMIM:618183
HP:0012210	Abnormal renal morphology	6608	SMO	OMIM:241800
HP:0012210	Abnormal renal morphology	7707	ZNF148	OMIM:617260
HP:0012210	Abnormal renal morphology	29954	POMT2	OMIM:236670
HP:0012210	Abnormal renal morphology	9215	LARGE1	OMIM:236670
HP:0012210	Abnormal renal morphology	79147	FKRP	OMIM:236670
HP:0012210	Abnormal renal morphology	10585	POMT1	OMIM:236670
HP:0012210	Abnormal renal morphology	2218	FKTN	OMIM:236670
HP:0012210	Abnormal renal morphology	26173	INTS1	OMIM:618571
HP:0012210	Abnormal renal morphology	6792	CDKL5	ORPHA:1934
HP:0012210	Abnormal renal morphology	3736	KCNA1	ORPHA:1934
HP:0012210	Abnormal renal morphology	2775	GNAO1	ORPHA:1934
HP:0012210	Abnormal renal morphology	2902	GRIN1	ORPHA:1934
HP:0012210	Abnormal renal morphology	79751	SLC25A22	ORPHA:1934
HP:0012210	Abnormal renal morphology	150094	SIK1	ORPHA:1934
HP:0012210	Abnormal renal morphology	8573	CASK	ORPHA:1934
HP:0012210	Abnormal renal morphology	23312	DMXL2	ORPHA:1934
HP:0012210	Abnormal renal morphology	2917	GRM7	ORPHA:1934
HP:0012210	Abnormal renal morphology	11284	PNKP	ORPHA:1934
HP:0012210	Abnormal renal morphology	6326	SCN2A	ORPHA:1934
HP:0012210	Abnormal renal morphology	51227	PIGP	ORPHA:1934
HP:0012210	Abnormal renal morphology	6324	SCN1B	ORPHA:1934
HP:0012210	Abnormal renal morphology	4761	NEUROD2	ORPHA:1934
HP:0012210	Abnormal renal morphology	51726	DNAJB11	OMIM:618061
HP:0012210	Abnormal renal morphology	79583	TMEM231	OMIM:615397
HP:0012210	Abnormal renal morphology	4750	NEK1	OMIM:263520
HP:0012210	Abnormal renal morphology	79770	TXNDC15	OMIM:619879
HP:0012210	Abnormal renal morphology	85358	SHANK3	OMIM:606232
HP:0012210	Abnormal renal morphology	5830	PEX5	OMIM:214110
HP:0012210	Abnormal renal morphology	219854	TMEM218	OMIM:619562
HP:0012210	Abnormal renal morphology	169792	GLIS3	OMIM:610199
HP:0012210	Abnormal renal morphology	23193	GANAB	OMIM:600666
HP:0012210	Abnormal renal morphology	5310	PKD1	OMIM:173900
HP:0012210	Abnormal renal morphology	84314	TMEM107	OMIM:617562
HP:0012210	Abnormal renal morphology	5193	PEX12	OMIM:614859
HP:0012210	Abnormal renal morphology	8504	PEX3	OMIM:617370
HP:0012210	Abnormal renal morphology	1187	CLCNKA	ORPHA:89938
HP:0012210	Abnormal renal morphology	51095	TRNT1	OMIM:616084
HP:0012210	Abnormal renal morphology	6521	SLC4A1	OMIM:611590
HP:0012210	Abnormal renal morphology	6521	SLC4A1	OMIM:179800
HP:0012210	Abnormal renal morphology	51604	PIGT	OMIM:615398
HP:0012210	Abnormal renal morphology	51604	PIGT	ORPHA:369837
HP:0012210	Abnormal renal morphology	368	ABCC6	ORPHA:51608
HP:0012210	Abnormal renal morphology	368	ABCC6	OMIM:614473
HP:0012210	Abnormal renal morphology	368	ABCC6	ORPHA:758
HP:0012210	Abnormal renal morphology	6809	STX3	ORPHA:2290
HP:0012210	Abnormal renal morphology	4645	MYO5B	ORPHA:2290
HP:0012210	Abnormal renal morphology	6569	SLC34A1	OMIM:616963
HP:0012210	Abnormal renal morphology	92335	STRADA	ORPHA:500533
HP:0012210	Abnormal renal morphology	92335	STRADA	OMIM:611087
HP:0012210	Abnormal renal morphology	3643	INSR	ORPHA:508
HP:0012210	Abnormal renal morphology	3643	INSR	ORPHA:769
HP:0012210	Abnormal renal morphology	2767	GNA11	ORPHA:428
HP:0012210	Abnormal renal morphology	846	CASR	ORPHA:428
HP:0012210	Abnormal renal morphology	846	CASR	OMIM:601198
HP:0012210	Abnormal renal morphology	526	ATP6V1B2	ORPHA:79500
HP:0012210	Abnormal renal morphology	81570	CLPB	ORPHA:445038
HP:0012210	Abnormal renal morphology	3251	HPRT1	OMIM:300322
HP:0012210	Abnormal renal morphology	79577	CDC73	ORPHA:143
HP:0012210	Abnormal renal morphology	79577	CDC73	ORPHA:99880
HP:0012210	Abnormal renal morphology	79577	CDC73	ORPHA:99879
HP:0012210	Abnormal renal morphology	249	ALPL	OMIM:241500
HP:0012210	Abnormal renal morphology	51119	SBDS	OMIM:260400
HP:0012210	Abnormal renal morphology	134218	DNAJC21	OMIM:260400
HP:0012210	Abnormal renal morphology	6729	SRP54	OMIM:260400
HP:0012210	Abnormal renal morphology	6506	SLC1A2	OMIM:617105
HP:0012210	Abnormal renal morphology	476	ATP1A1	OMIM:618314
HP:0012210	Abnormal renal morphology	476	ATP1A1	ORPHA:564178
HP:0012210	Abnormal renal morphology	10686	CLDN16	OMIM:248250
HP:0012210	Abnormal renal morphology	6514	SLC2A2	ORPHA:2088
HP:0012210	Abnormal renal morphology	54757	FAM20A	ORPHA:1031
HP:0012210	Abnormal renal morphology	54757	FAM20A	OMIM:204690
HP:0012210	Abnormal renal morphology	58528	RRAGD	OMIM:620152
HP:0012210	Abnormal renal morphology	5745	PTH1R	OMIM:156400
HP:0012210	Abnormal renal morphology	326	AIRE	OMIM:240300
HP:0012210	Abnormal renal morphology	2530	FUT8	OMIM:618005
HP:0012210	Abnormal renal morphology	5741	PTH	OMIM:146200
HP:0012210	Abnormal renal morphology	2591	GALNT3	OMIM:211900
HP:0012210	Abnormal renal morphology	3172	HNF4A	OMIM:616026
HP:0012210	Abnormal renal morphology	4221	MEN1	ORPHA:99879
HP:0012210	Abnormal renal morphology	9247	GCM2	ORPHA:99879
HP:0012210	Abnormal renal morphology	5286	PIK3C2A	ORPHA:557003
HP:0012210	Abnormal renal morphology	3291	HSD11B2	ORPHA:320
HP:0012210	Abnormal renal morphology	50617	ATP6V0A4	OMIM:602722
HP:0012210	Abnormal renal morphology	6557	SLC12A1	OMIM:601678
HP:0012210	Abnormal renal morphology	3758	KCNJ1	OMIM:241200
HP:0012210	Abnormal renal morphology	149461	CLDN19	OMIM:248190
HP:0012210	Abnormal renal morphology	529	ATP6V1E1	OMIM:617402
HP:0012210	Abnormal renal morphology	1591	CYP24A1	OMIM:143880
HP:0012210	Abnormal renal morphology	63894	VIPAS39	OMIM:613404
HP:0012210	Abnormal renal morphology	57592	ZNF687	OMIM:616833
HP:0012210	Abnormal renal morphology	5518	PPP2R1A	OMIM:616362
HP:0012210	Abnormal renal morphology	5518	PPP2R1A	ORPHA:457284
HP:0012210	Abnormal renal morphology	8294	H4C9	OMIM:619951
HP:0012210	Abnormal renal morphology	128674	PROKR2	OMIM:244200
HP:0012210	Abnormal renal morphology	55503	TRPV6	OMIM:618188
HP:0012210	Abnormal renal morphology	998	CDC42	ORPHA:487796
HP:0012210	Abnormal renal morphology	998	CDC42	OMIM:616737
HP:0012210	Abnormal renal morphology	5832	ALDH18A1	OMIM:616603
HP:0012210	Abnormal renal morphology	5832	ALDH18A1	ORPHA:90348
HP:0012210	Abnormal renal morphology	91801	ALKBH8	OMIM:618504
HP:0012210	Abnormal renal morphology	54499	TMCO1	OMIM:213980
HP:0012210	Abnormal renal morphology	8496	PPFIBP1	OMIM:620024
HP:0012210	Abnormal renal morphology	3417	IDH1	ORPHA:99646
HP:0012210	Abnormal renal morphology	55252	ASXL2	OMIM:617190
HP:0012210	Abnormal renal morphology	50814	NSDHL	OMIM:308050
HP:0012210	Abnormal renal morphology	10516	FBLN5	ORPHA:90348
HP:0012210	Abnormal renal morphology	412	STS	ORPHA:281090
HP:0012210	Abnormal renal morphology	55788	LMBRD1	ORPHA:79284
HP:0012210	Abnormal renal morphology	9276	COPB2	ORPHA:2512
HP:0012210	Abnormal renal morphology	11113	CIT	ORPHA:2512
HP:0012210	Abnormal renal morphology	22995	CEP152	ORPHA:2512
HP:0012210	Abnormal renal morphology	284403	WDR62	ORPHA:2512
HP:0012210	Abnormal renal morphology	55262	TRAPPC14	ORPHA:2512
HP:0012210	Abnormal renal morphology	163786	SASS6	ORPHA:2512
HP:0012210	Abnormal renal morphology	29920	PYCR2	ORPHA:2512
HP:0012210	Abnormal renal morphology	84879	MFSD2A	ORPHA:2512
HP:0012210	Abnormal renal morphology	4176	MCM7	ORPHA:2512
HP:0012210	Abnormal renal morphology	80254	CEP63	ORPHA:2512
HP:0012210	Abnormal renal morphology	29081	METTL5	ORPHA:2512
HP:0012210	Abnormal renal morphology	23310	NCAPD3	ORPHA:2512
HP:0012210	Abnormal renal morphology	55755	CDK5RAP2	ORPHA:2512
HP:0012210	Abnormal renal morphology	79648	MCPH1	ORPHA:2512
HP:0012210	Abnormal renal morphology	6491	STIL	ORPHA:2512
HP:0012210	Abnormal renal morphology	23141	ANKLE2	ORPHA:2512
HP:0012210	Abnormal renal morphology	259266	ASPM	ORPHA:2512
HP:0012210	Abnormal renal morphology	7109	TRAPPC10	ORPHA:2512
HP:0012210	Abnormal renal morphology	1911	PHC1	ORPHA:2512
HP:0012210	Abnormal renal morphology	6884	TAF13	ORPHA:2512
HP:0012210	Abnormal renal morphology	9662	CEP135	ORPHA:2512
HP:0012210	Abnormal renal morphology	55835	CENPJ	ORPHA:2512
HP:0012210	Abnormal renal morphology	57082	KNL1	ORPHA:2512
HP:0012210	Abnormal renal morphology	1021	CDK6	ORPHA:2512
HP:0012210	Abnormal renal morphology	3730	ANOS1	OMIM:308700
HP:0012210	Abnormal renal morphology	57511	COG6	OMIM:614576
HP:0012210	Abnormal renal morphology	55012	PPP2R3C	OMIM:618419
HP:0012210	Abnormal renal morphology	51729	WBP11	OMIM:619227
HP:0012210	Abnormal renal morphology	2783	GNB2	OMIM:619503
HP:0012210	Abnormal renal morphology	26057	ANKRD17	OMIM:619504
HP:0012210	Abnormal renal morphology	5573	PRKAR1A	OMIM:101800
HP:0012210	Abnormal renal morphology	158326	FREM1	OMIM:608980
HP:0012210	Abnormal renal morphology	6862	TBXT	OMIM:615709
HP:0012210	Abnormal renal morphology	7750	ZMYM2	OMIM:619522
HP:0012210	Abnormal renal morphology	1656	DDX6	OMIM:618653
HP:0012210	Abnormal renal morphology	2260	FGFR1	OMIM:613001
HP:0012210	Abnormal renal morphology	6095	RORA	OMIM:618060
HP:0012210	Abnormal renal morphology	7528	YY1	ORPHA:506358
HP:0012210	Abnormal renal morphology	7528	YY1	OMIM:617557
HP:0012210	Abnormal renal morphology	9860	LRIG2	OMIM:615112
HP:0012210	Abnormal renal morphology	9860	LRIG2	ORPHA:2704
HP:0012210	Abnormal renal morphology	8425	LTBP4	OMIM:613177
HP:0012210	Abnormal renal morphology	81857	MED25	OMIM:616449
HP:0012210	Abnormal renal morphology	81857	MED25	ORPHA:464738
HP:0012210	Abnormal renal morphology	538	ATP7A	OMIM:304150
HP:0012210	Abnormal renal morphology	126792	B3GALT6	OMIM:609465
HP:0012210	Abnormal renal morphology	64324	NSD1	ORPHA:821
HP:0012210	Abnormal renal morphology	29072	SETD2	ORPHA:821
HP:0012210	Abnormal renal morphology	10297	APC2	ORPHA:821
HP:0012210	Abnormal renal morphology	10093	ARPC4	OMIM:620141
HP:0012210	Abnormal renal morphology	6662	SOX9	ORPHA:140
HP:0012210	Abnormal renal morphology	6662	SOX9	OMIM:114290
HP:0012210	Abnormal renal morphology	197131	UBR1	OMIM:243800
HP:0012210	Abnormal renal morphology	197131	UBR1	ORPHA:2315
HP:0012210	Abnormal renal morphology	2782	GNB1	ORPHA:488613
HP:0012210	Abnormal renal morphology	2782	GNB1	OMIM:616973
HP:0012210	Abnormal renal morphology	9915	ARNT2	OMIM:615926
HP:0012210	Abnormal renal morphology	9382	COG1	OMIM:611209
HP:0012210	Abnormal renal morphology	84720	PIGO	ORPHA:247262
HP:0012210	Abnormal renal morphology	93210	PGAP3	ORPHA:247262
HP:0012210	Abnormal renal morphology	284098	PIGW	ORPHA:247262
HP:0012210	Abnormal renal morphology	27315	PGAP2	ORPHA:247262
HP:0012210	Abnormal renal morphology	55650	PIGV	ORPHA:247262
HP:0012210	Abnormal renal morphology	4001	LMNB1	OMIM:619179
HP:0012210	Abnormal renal morphology	1136	CHRNA3	OMIM:191800
HP:0012210	Abnormal renal morphology	815	CAMK2A	OMIM:617798
HP:0012210	Abnormal renal morphology	92579	G6PC3	OMIM:612541
HP:0012210	Abnormal renal morphology	7994	KAT6A	ORPHA:457193
HP:0012210	Abnormal renal morphology	7994	KAT6A	OMIM:616268
HP:0012210	Abnormal renal morphology	23116	TOGARAM1	OMIM:619185
HP:0012210	Abnormal renal morphology	7466	WFS1	OMIM:222300
HP:0012210	Abnormal renal morphology	60495	HPSE2	ORPHA:2704
HP:0012210	Abnormal renal morphology	60495	HPSE2	OMIM:236730
HP:0012210	Abnormal renal morphology	26040	SETBP1	OMIM:269150
HP:0012210	Abnormal renal morphology	26040	SETBP1	ORPHA:798
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:90652
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:2484
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:304120
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:1826
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:309350
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:305620
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:300048
HP:0012210	Abnormal renal morphology	5337	PLD1	OMIM:212093
HP:0012210	Abnormal renal morphology	3981	LIG4	ORPHA:235
HP:0012210	Abnormal renal morphology	54888	NSUN2	ORPHA:235
HP:0012210	Abnormal renal morphology	5590	PRKCZ	ORPHA:1606
HP:0012210	Abnormal renal morphology	2563	GABRD	ORPHA:1606
HP:0012210	Abnormal renal morphology	23013	SPEN	ORPHA:1606
HP:0012210	Abnormal renal morphology	8510	MMP23B	ORPHA:1606
HP:0012210	Abnormal renal morphology	7798	LUZP1	ORPHA:1606
HP:0012210	Abnormal renal morphology	6497	SKI	ORPHA:1606
HP:0012210	Abnormal renal morphology	10630	PDPN	ORPHA:1606
HP:0012210	Abnormal renal morphology	3339	HSPG2	ORPHA:1606
HP:0012210	Abnormal renal morphology	10277	UBE4B	ORPHA:1606
HP:0012210	Abnormal renal morphology	8514	KCNAB2	ORPHA:1606
HP:0012210	Abnormal renal morphology	473	RERE	ORPHA:1606
HP:0012210	Abnormal renal morphology	63976	PRDM16	ORPHA:1606
HP:0012210	Abnormal renal morphology	54897	CASZ1	ORPHA:1606
HP:0012210	Abnormal renal morphology	8314	BAP1	OMIM:619762
HP:0012210	Abnormal renal morphology	79971	WLS	OMIM:619648
HP:0012210	Abnormal renal morphology	2065	ERBB3	OMIM:607598
HP:0012210	Abnormal renal morphology	9968	MED12	OMIM:301068
HP:0012210	Abnormal renal morphology	64321	SOX17	OMIM:613674
HP:0012210	Abnormal renal morphology	6654	SOS1	OMIM:610733
HP:0012210	Abnormal renal morphology	91949	COG7	OMIM:608779
HP:0012210	Abnormal renal morphology	4683	NBN	OMIM:251260
HP:0012210	Abnormal renal morphology	5648	MASP1	OMIM:257920
HP:0012210	Abnormal renal morphology	2972	BRF1	ORPHA:444072
HP:0012210	Abnormal renal morphology	1387	CREBBP	ORPHA:353281
HP:0012210	Abnormal renal morphology	1387	CREBBP	OMIM:180849
HP:0012210	Abnormal renal morphology	1387	CREBBP	ORPHA:353277
HP:0012210	Abnormal renal morphology	388015	RTL1	ORPHA:254528
HP:0012210	Abnormal renal morphology	8788	DLK1	ORPHA:254528
HP:0012210	Abnormal renal morphology	55384	MEG3	ORPHA:254528
HP:0012210	Abnormal renal morphology	2033	EP300	ORPHA:353284
HP:0012210	Abnormal renal morphology	2033	EP300	OMIM:180849
HP:0012210	Abnormal renal morphology	389827	MYMK	ORPHA:1358
HP:0012210	Abnormal renal morphology	101929726	MYMX	ORPHA:1358
HP:0012210	Abnormal renal morphology	56975	FAM20C	OMIM:259775
HP:0012210	Abnormal renal morphology	5604	MAP2K1	ORPHA:1340
HP:0012210	Abnormal renal morphology	5605	MAP2K2	ORPHA:1340
HP:0012210	Abnormal renal morphology	2019	EN1	OMIM:619218
HP:0012210	Abnormal renal morphology	6469	SHH	OMIM:142945
HP:0012210	Abnormal renal morphology	23111	SPART	ORPHA:101000
HP:0012210	Abnormal renal morphology	760	CA2	ORPHA:2785
HP:0012210	Abnormal renal morphology	1499	CTNNB1	ORPHA:873
HP:0012210	Abnormal renal morphology	10526	IPO8	OMIM:619472
HP:0012210	Abnormal renal morphology	2892	GRIA3	ORPHA:364028
HP:0012210	Abnormal renal morphology	5530	PPP3CA	OMIM:618265
HP:0012210	Abnormal renal morphology	55617	TASP1	OMIM:618950
HP:0012210	Abnormal renal morphology	51715	RAB23	OMIM:201000
HP:0012210	Abnormal renal morphology	202018	TAPT1	OMIM:616897
HP:0012210	Abnormal renal morphology	5426	POLE	ORPHA:85173
HP:0012210	Abnormal renal morphology	9897	WASHC5	OMIM:220210
HP:0012210	Abnormal renal morphology	9897	WASHC5	ORPHA:7
HP:0012210	Abnormal renal morphology	10491	CRTAP	OMIM:610682
HP:0012210	Abnormal renal morphology	5236	PGM1	OMIM:614921
HP:0012210	Abnormal renal morphology	219844	HYLS1	OMIM:236680
HP:0012210	Abnormal renal morphology	71	ACTG1	ORPHA:2995
HP:0012210	Abnormal renal morphology	60	ACTB	ORPHA:2995
HP:0012210	Abnormal renal morphology	28952	CCDC22	ORPHA:7
HP:0012210	Abnormal renal morphology	6913	TBX15	OMIM:260660
HP:0012210	Abnormal renal morphology	375056	MIA3	OMIM:619269
HP:0012210	Abnormal renal morphology	4281	MID1	ORPHA:2745
HP:0012210	Abnormal renal morphology	7421	VDR	ORPHA:93160
HP:0012210	Abnormal renal morphology	776	CACNA1D	OMIM:615474
HP:0012210	Abnormal renal morphology	776	CACNA1D	ORPHA:369929
HP:0012210	Abnormal renal morphology	3081	HGD	OMIM:203500
HP:0012210	Abnormal renal morphology	3081	HGD	ORPHA:56
HP:0012210	Abnormal renal morphology	1119	CHKA	OMIM:620023
HP:0012210	Abnormal renal morphology	11136	SLC7A9	OMIM:220100
HP:0012210	Abnormal renal morphology	6519	SLC3A1	OMIM:220100
HP:0012210	Abnormal renal morphology	6519	SLC3A1	ORPHA:163690
HP:0012210	Abnormal renal morphology	6519	SLC3A1	ORPHA:163693
HP:0012210	Abnormal renal morphology	6523	SLC5A1	ORPHA:35710
HP:0012210	Abnormal renal morphology	55034	MOCOS	OMIM:603592
HP:0012210	Abnormal renal morphology	525	ATP6V1B1	OMIM:267300
HP:0012210	Abnormal renal morphology	1491	CTH	ORPHA:212
HP:0012210	Abnormal renal morphology	9071	CLDN10	OMIM:617671
HP:0012210	Abnormal renal morphology	153642	ARSK	OMIM:619698
HP:0012210	Abnormal renal morphology	3756	KCNH1	OMIM:135500
HP:0012210	Abnormal renal morphology	2200	FBN1	ORPHA:2833
HP:0012210	Abnormal renal morphology	3872	KRT17	ORPHA:841
HP:0012210	Abnormal renal morphology	5340	PLG	ORPHA:722
HP:0012210	Abnormal renal morphology	5340	PLG	OMIM:217090
HP:0012210	Abnormal renal morphology	10555	AGPAT2	OMIM:608594
HP:0012210	Abnormal renal morphology	64127	NOD2	OMIM:617321
HP:0012210	Abnormal renal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012210	Abnormal renal morphology	5333	PLCD1	ORPHA:2387
HP:0012210	Abnormal renal morphology	9049	AIP	OMIM:219090
HP:0012210	Abnormal renal morphology	9101	USP8	OMIM:219090
HP:0012210	Abnormal renal morphology	6505	SLC1A1	OMIM:222730
HP:0012210	Abnormal renal morphology	26580	BSCL2	OMIM:269700
HP:0012210	Abnormal renal morphology	9368	NHERF1	OMIM:612287
HP:0012210	Abnormal renal morphology	8622	PDE8B	ORPHA:189439
HP:0012210	Abnormal renal morphology	50940	PDE11A	ORPHA:189439
HP:0012210	Abnormal renal morphology	92667	MGME1	ORPHA:352447
HP:0012210	Abnormal renal morphology	2947	GSTM3	ORPHA:586
HP:0012210	Abnormal renal morphology	7040	TGFB1	ORPHA:586
HP:0012210	Abnormal renal morphology	2729	GCLC	ORPHA:586
HP:0012210	Abnormal renal morphology	1084	CEACAM3	ORPHA:586
HP:0012210	Abnormal renal morphology	6556	SLC11A1	ORPHA:586
HP:0012210	Abnormal renal morphology	51164	DCTN4	ORPHA:586
HP:0012210	Abnormal renal morphology	3783	KCNN4	ORPHA:586
HP:0012210	Abnormal renal morphology	4282	MIF	ORPHA:586
HP:0012210	Abnormal renal morphology	1909	EDNRA	ORPHA:586
HP:0012210	Abnormal renal morphology	6550	SLC9A3	ORPHA:586
HP:0012210	Abnormal renal morphology	3162	HMOX1	ORPHA:586
HP:0012210	Abnormal renal morphology	115019	SLC26A9	ORPHA:586
HP:0012210	Abnormal renal morphology	3077	HFE	ORPHA:586
HP:0012210	Abnormal renal morphology	11254	SLC6A14	ORPHA:586
HP:0012210	Abnormal renal morphology	5265	SERPINA1	ORPHA:586
HP:0012210	Abnormal renal morphology	22802	CLCA4	ORPHA:586
HP:0012210	Abnormal renal morphology	4680	CEACAM6	ORPHA:586
HP:0012210	Abnormal renal morphology	79798	ARMC5	ORPHA:189427
HP:0012210	Abnormal renal morphology	2778	GNAS	ORPHA:189427
HP:0012210	Abnormal renal morphology	9581	PREPL	ORPHA:163690
HP:0012210	Abnormal renal morphology	9581	PREPL	ORPHA:163693
HP:0012210	Abnormal renal morphology	540	ATP7B	OMIM:277900
HP:0012210	Abnormal renal morphology	5495	PPM1B	ORPHA:163693
HP:0012210	Abnormal renal morphology	79823	CAMKMT	ORPHA:163693
HP:0012210	Abnormal renal morphology	2658	GDF2	ORPHA:774
HP:0012210	Abnormal renal morphology	94	ACVRL1	ORPHA:774
HP:0012210	Abnormal renal morphology	4089	SMAD4	ORPHA:774
HP:0012210	Abnormal renal morphology	2022	ENG	ORPHA:774
HP:0012210	Abnormal renal morphology	1027	CDKN1B	ORPHA:652
HP:0012210	Abnormal renal morphology	1026	CDKN1A	ORPHA:652
HP:0012210	Abnormal renal morphology	1030	CDKN2B	ORPHA:652
HP:0012210	Abnormal renal morphology	1031	CDKN2C	ORPHA:652
HP:0012210	Abnormal renal morphology	9365	KL	OMIM:617994
HP:0012210	Abnormal renal morphology	9075	CLDN2	OMIM:301060
HP:0012210	Abnormal renal morphology	6476	SI	OMIM:222900
HP:0012210	Abnormal renal morphology	55367	PIDD1	OMIM:619827
HP:0012210	Abnormal renal morphology	161742	SPRED1	ORPHA:137605
HP:0012210	Abnormal renal morphology	871	SERPINH1	OMIM:613848
HP:0012210	Abnormal renal morphology	5631	PRPS1	ORPHA:411543
HP:0012210	Abnormal renal morphology	5631	PRPS1	ORPHA:411536
HP:0012210	Abnormal renal morphology	5631	PRPS1	OMIM:300661
HP:0012210	Abnormal renal morphology	353	APRT	ORPHA:976
HP:0012210	Abnormal renal morphology	57169	ZNFX1	OMIM:619644
HP:0012210	Abnormal renal morphology	1777	DNASE2	OMIM:619858
HP:0012210	Abnormal renal morphology	712	C1QA	OMIM:613652
HP:0012210	Abnormal renal morphology	5238	PGM3	ORPHA:443811
HP:0012210	Abnormal renal morphology	5238	PGM3	OMIM:615816
HP:0012210	Abnormal renal morphology	718	C3	OMIM:613779
HP:0012210	Abnormal renal morphology	5105	PCK1	OMIM:261680
HP:0012210	Abnormal renal morphology	5106	PCK2	OMIM:261650
HP:0012210	Abnormal renal morphology	80114	BICC1	OMIM:601331
HP:0012210	Abnormal renal morphology	57465	TBC1D24	OMIM:220500
HP:0012210	Abnormal renal morphology	54903	MKS1	OMIM:249000
HP:0012210	Abnormal renal morphology	166379	BBS12	OMIM:615989
HP:0012210	Abnormal renal morphology	1376	CPT2	ORPHA:228308
HP:0012210	Abnormal renal morphology	79848	CSPP1	ORPHA:397715
HP:0012210	Abnormal renal morphology	9786	KIAA0586	ORPHA:397715
HP:0012210	Abnormal renal morphology	9526	MPDU1	OMIM:609180
HP:0012210	Abnormal renal morphology	9526	MPDU1	ORPHA:79323
HP:0012210	Abnormal renal morphology	9091	PIGQ	OMIM:618548
HP:0012210	Abnormal renal morphology	2108	ETFA	OMIM:231680
HP:0012210	Abnormal renal morphology	2109	ETFB	OMIM:231680
HP:0012210	Abnormal renal morphology	2110	ETFDH	OMIM:231680
HP:0012210	Abnormal renal morphology	1028	CDKN1C	OMIM:130650
HP:0012210	Abnormal renal morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012210	Abnormal renal morphology	3481	IGF2	OMIM:130650
HP:0012210	Abnormal renal morphology	3784	KCNQ1	OMIM:130650
HP:0012210	Abnormal renal morphology	7498	XDH	OMIM:278300
HP:0012210	Abnormal renal morphology	4337	MOCS1	OMIM:252150
HP:0012210	Abnormal renal morphology	4338	MOCS2	OMIM:252160
HP:0012210	Abnormal renal morphology	114548	NLRP3	ORPHA:575
HP:0012210	Abnormal renal morphology	114548	NLRP3	OMIM:191900
HP:0012210	Abnormal renal morphology	114548	NLRP3	OMIM:120100
HP:0012210	Abnormal renal morphology	567	B2M	ORPHA:314652
HP:0012210	Abnormal renal morphology	6288	SAA1	ORPHA:85445
HP:0012210	Abnormal renal morphology	3949	LDLR	ORPHA:391665
HP:0012210	Abnormal renal morphology	255738	PCSK9	ORPHA:391665
HP:0012210	Abnormal renal morphology	26119	LDLRAP1	ORPHA:391665
HP:0012210	Abnormal renal morphology	338	APOB	ORPHA:391665
HP:0012210	Abnormal renal morphology	64240	ABCG5	ORPHA:391665
HP:0012210	Abnormal renal morphology	64241	ABCG8	ORPHA:391665
HP:0012210	Abnormal renal morphology	55249	YY1AP1	OMIM:602531
HP:0012210	Abnormal renal morphology	6772	STAT1	ORPHA:391487
HP:0012210	Abnormal renal morphology	10043	TOM1	ORPHA:391487
HP:0012210	Abnormal renal morphology	9896	FIG4	ORPHA:3472
HP:0012210	Abnormal renal morphology	55697	VAC14	ORPHA:3472
HP:0012210	Abnormal renal morphology	5167	ENPP1	OMIM:208000
HP:0012210	Abnormal renal morphology	5456	POU3F4	ORPHA:1435
HP:0012210	Abnormal renal morphology	100	ADA	OMIM:102700
HP:0012210	Abnormal renal morphology	3913	LAMB2	OMIM:609049
HP:0012210	Abnormal renal morphology	1497	CTNS	ORPHA:411629
HP:0012210	Abnormal renal morphology	57107	PDSS2	ORPHA:255249
HP:0012210	Abnormal renal morphology	11222	MRPL3	OMIM:614582
HP:0012210	Abnormal renal morphology	1801	DPH1	OMIM:616901
HP:0012210	Abnormal renal morphology	1801	DPH1	ORPHA:459061
HP:0012210	Abnormal renal morphology	4594	MMUT	OMIM:251000
HP:0012210	Abnormal renal morphology	83480	PUS3	ORPHA:488627
HP:0012210	Abnormal renal morphology	55764	IFT122	OMIM:218330
HP:0012210	Abnormal renal morphology	617	BCS1L	OMIM:124000
HP:0012210	Abnormal renal morphology	56244	BTNL2	ORPHA:797
HP:0012210	Abnormal renal morphology	3123	HLA-DRB1	ORPHA:797
HP:0012210	Abnormal renal morphology	9158	FIBP	OMIM:617107
HP:0012210	Abnormal renal morphology	9158	FIBP	ORPHA:500095
HP:0012210	Abnormal renal morphology	54914	FOCAD	OMIM:619991
HP:0012210	Abnormal renal morphology	7468	NSD2	OMIM:619695
HP:0012210	Abnormal renal morphology	22858	CILK1	OMIM:612651
HP:0012210	Abnormal renal morphology	79867	TCTN2	OMIM:613885
HP:0012210	Abnormal renal morphology	54938	SARS2	OMIM:613845
HP:0012210	Abnormal renal morphology	1287	COL4A5	OMIM:301050
HP:0012210	Abnormal renal morphology	10568	SLC34A2	ORPHA:60025
HP:0012210	Abnormal renal morphology	142680	SLC34A3	OMIM:241530
HP:0012210	Abnormal renal morphology	5828	PEX2	OMIM:614866
HP:0012210	Abnormal renal morphology	5189	PEX1	OMIM:214100
HP:0012210	Abnormal renal morphology	10682	EBP	OMIM:300960
HP:0012210	Abnormal renal morphology	9578	CDC42BPB	OMIM:619841
HP:0012210	Abnormal renal morphology	348180	CTU2	OMIM:618142
HP:0012210	Abnormal renal morphology	324	APC	ORPHA:3258
HP:0012210	Abnormal renal morphology	7809	BSND	OMIM:602522
HP:0012210	Abnormal renal morphology	23556	PIGN	ORPHA:280633
HP:0012210	Abnormal renal morphology	25914	RTTN	ORPHA:468631
HP:0012210	Abnormal renal morphology	2138	EYA1	OMIM:113650
HP:0012210	Abnormal renal morphology	6495	SIX1	OMIM:113650
HP:0012210	Abnormal renal morphology	8802	SUCLG1	ORPHA:17
HP:0012210	Abnormal renal morphology	84992	PIGY	OMIM:616809
HP:0012210	Abnormal renal morphology	3075	CFH	OMIM:609814
HP:0012210	Abnormal renal morphology	595	CCND1	ORPHA:892
HP:0012210	Abnormal renal morphology	595	CCND1	OMIM:193300
HP:0012210	Abnormal renal morphology	5311	PKD2	OMIM:613095
HP:0012210	Abnormal renal morphology	5194	PEX13	OMIM:614883
HP:0012210	Abnormal renal morphology	1282	COL4A1	ORPHA:73229
HP:0012210	Abnormal renal morphology	2317	FLNB	ORPHA:1190
HP:0012210	Abnormal renal morphology	6794	STK11	ORPHA:2869
HP:0012210	Abnormal renal morphology	11231	SEC63	ORPHA:2924
HP:0012210	Abnormal renal morphology	5589	PRKCSH	ORPHA:2924
HP:0012210	Abnormal renal morphology	4041	LRP5	ORPHA:2924
HP:0012210	Abnormal renal morphology	7248	TSC1	ORPHA:538
HP:0012210	Abnormal renal morphology	7249	TSC2	OMIM:613254
HP:0012210	Abnormal renal morphology	3458	IFNG	OMIM:613254
HP:0012210	Abnormal renal morphology	1186	CLCN7	OMIM:618541
HP:0012210	Abnormal renal morphology	199221	DZIP1L	OMIM:617610
HP:0012210	Abnormal renal morphology	199221	DZIP1L	ORPHA:731
HP:0012210	Abnormal renal morphology	8449	DHX16	OMIM:618733
HP:0012210	Abnormal renal morphology	10015	PDCD6IP	OMIM:620047
HP:0012210	Abnormal renal morphology	54	ACP5	OMIM:607944
HP:0012210	Abnormal renal morphology	137682	NDUFAF6	OMIM:618913
HP:0012210	Abnormal renal morphology	2632	GBE1	OMIM:232500
HP:0012210	Abnormal renal morphology	84168	ANTXR1	OMIM:230740
HP:0012210	Abnormal renal morphology	2719	GPC3	OMIM:312870
HP:0012210	Abnormal renal morphology	2239	GPC4	OMIM:312870
HP:0012210	Abnormal renal morphology	388662	SLC6A17	ORPHA:457212
HP:0012210	Abnormal renal morphology	10229	COQ7	OMIM:616733
HP:0012210	Abnormal renal morphology	11274	USP18	OMIM:617397
HP:0012210	Abnormal renal morphology	1314	COPA	OMIM:616414
HP:0012210	Abnormal renal morphology	1175	AP2S1	OMIM:600740
HP:0012210	Abnormal renal morphology	5314	PKHD1	OMIM:263200
HP:0012210	Abnormal renal morphology	183	AGT	OMIM:267430
HP:0012210	Abnormal renal morphology	185	AGTR1	OMIM:267430
HP:0012210	Abnormal renal morphology	1636	ACE	OMIM:267430
HP:0012210	Abnormal renal morphology	10861	SLC26A1	OMIM:167030
HP:0012210	Abnormal renal morphology	26873	OPLAH	OMIM:260005
HP:0012210	Abnormal renal morphology	189	AGXT	OMIM:259900
HP:0012210	Abnormal renal morphology	55811	ADCY10	ORPHA:2197
HP:0012210	Abnormal renal morphology	55811	ADCY10	OMIM:143870
HP:0012210	Abnormal renal morphology	9380	GRHPR	OMIM:260000
HP:0012210	Abnormal renal morphology	51256	TBC1D7	OMIM:248000
HP:0012210	Abnormal renal morphology	112817	HOGA1	OMIM:613616
HP:0012210	Abnormal renal morphology	112817	HOGA1	ORPHA:93600
HP:0012210	Abnormal renal morphology	153201	SLC36A2	OMIM:138500
HP:0012210	Abnormal renal morphology	27238	GPKOW	ORPHA:2570
HP:0012210	Abnormal renal morphology	3975	LHX1	ORPHA:261265
HP:0012210	Abnormal renal morphology	147912	SIX5	ORPHA:107
HP:0012210	Abnormal renal morphology	1718	DHCR24	ORPHA:35107
HP:0012210	Abnormal renal morphology	8195	MKKS	ORPHA:2473
HP:0012210	Abnormal renal morphology	5075	PAX1	ORPHA:2792
HP:0012210	Abnormal renal morphology	10262	SF3B4	ORPHA:1788
HP:0012210	Abnormal renal morphology	10210	TOPORS	ORPHA:2754
HP:0012210	Abnormal renal morphology	9851	KIAA0753	ORPHA:2754
HP:0012210	Abnormal renal morphology	65250	CPLANE1	ORPHA:2754
HP:0012210	Abnormal renal morphology	8481	OFD1	ORPHA:2754
HP:0012210	Abnormal renal morphology	317662	FAM149B1	ORPHA:2754
HP:0012210	Abnormal renal morphology	374654	KIF7	ORPHA:2754
HP:0012210	Abnormal renal morphology	5566	PRKACA	ORPHA:289
HP:0012210	Abnormal renal morphology	5567	PRKACB	ORPHA:289
HP:0012210	Abnormal renal morphology	2735	GLI1	ORPHA:289
HP:0012210	Abnormal renal morphology	2121	EVC	ORPHA:289
HP:0012210	Abnormal renal morphology	132884	EVC2	ORPHA:289
HP:0012210	Abnormal renal morphology	9573	GDF3	ORPHA:2345
HP:0012210	Abnormal renal morphology	392255	GDF6	ORPHA:2345
HP:0012210	Abnormal renal morphology	4222	MEOX1	ORPHA:2345
HP:0012210	Abnormal renal morphology	170302	ARX	ORPHA:2508
HP:0012210	Abnormal renal morphology	2625	GATA3	OMIM:146255
HP:0012210	Abnormal renal morphology	2811	GP1BA	ORPHA:274
HP:0012210	Abnormal renal morphology	2815	GP9	ORPHA:274
HP:0012210	Abnormal renal morphology	79796	ALG9	ORPHA:79328
HP:0012210	Abnormal renal morphology	2258	FGF13	OMIM:301058
HP:0012210	Abnormal renal morphology	1182	CLCN3	OMIM:619512
HP:0012210	Abnormal renal morphology	10398	MYL9	OMIM:619365
HP:0012210	Abnormal renal morphology	93627	TBCK	OMIM:616900
HP:0012210	Abnormal renal morphology	10472	ZBTB18	OMIM:612337
HP:0012210	Abnormal renal morphology	54796	BNC2	ORPHA:93110
HP:0012210	Abnormal renal morphology	2294	FOXF1	OMIM:265380
HP:0012210	Abnormal renal morphology	10847	SRCAP	ORPHA:2044
HP:0012210	Abnormal renal morphology	27077	B9D1	OMIM:617120
HP:0012210	Abnormal renal morphology	3190	HNRNPK	OMIM:616580
HP:0012210	Abnormal renal morphology	91179	SCARF2	OMIM:600920
HP:0012210	Abnormal renal morphology	79989	IFT56	OMIM:619534
HP:0012210	Abnormal renal morphology	5297	PI4KA	OMIM:619708
HP:0012210	Abnormal renal morphology	1859	DYRK1A	ORPHA:268261
HP:0012210	Abnormal renal morphology	26281	FGF20	OMIM:615721
HP:0012210	Abnormal renal morphology	9653	HS2ST1	OMIM:619194
HP:0012210	Abnormal renal morphology	2674	GFRA1	OMIM:619887
HP:0012210	Abnormal renal morphology	55191	NADSYN1	OMIM:618845
HP:0012210	Abnormal renal morphology	8516	ITGA8	OMIM:191830
HP:0012210	Abnormal renal morphology	4174	MCM5	OMIM:617564
HP:0012210	Abnormal renal morphology	10149	ADGRG2	ORPHA:48
HP:0012210	Abnormal renal morphology	1080	CFTR	ORPHA:48
HP:0012210	Abnormal renal morphology	11146	GLMN	ORPHA:83454
HP:0012210	Abnormal renal morphology	7355	SLC35A2	ORPHA:356961
HP:0012210	Abnormal renal morphology	201163	FLCN	OMIM:610883
HP:0012210	Abnormal renal morphology	79813	EHMT1	OMIM:610253
HP:0012210	Abnormal renal morphology	55690	PACS1	ORPHA:329224
HP:0012210	Abnormal renal morphology	5053	PAH	ORPHA:2209
HP:0012210	Abnormal renal morphology	10916	MAGED2	OMIM:300971
HP:0012210	Abnormal renal morphology	5442	POLRMT	OMIM:619743
HP:0012210	Abnormal renal morphology	113179	ADAT3	ORPHA:363528
HP:0012210	Abnormal renal morphology	8074	FGF23	OMIM:617993
HP:0012210	Abnormal renal morphology	1861	TOR1A	OMIM:618947
HP:0012210	Abnormal renal morphology	10253	SPRY2	OMIM:616818
HP:0012210	Abnormal renal morphology	1286	COL4A4	OMIM:141200
HP:0012210	Abnormal renal morphology	3716	JAK1	OMIM:618999
HP:0012210	Abnormal renal morphology	25959	KANK2	OMIM:617783
HP:0012210	Abnormal renal morphology	5361	PLXNA1	OMIM:619955
HP:0012210	Abnormal renal morphology	26005	C2CD3	OMIM:615948
HP:0012210	Abnormal renal morphology	8367	H4C5	OMIM:619950
HP:0012210	Abnormal renal morphology	1063	CENPF	OMIM:243605
HP:0012210	Abnormal renal morphology	57178	ZMIZ1	OMIM:618659
HP:0012210	Abnormal renal morphology	5081	PAX7	OMIM:618578
HP:0012210	Abnormal renal morphology	9361	LONP1	ORPHA:79243
HP:0012210	Abnormal renal morphology	5160	PDHA1	ORPHA:79243
HP:0012210	Abnormal renal morphology	403	ARL3	OMIM:618161
HP:0012210	Abnormal renal morphology	7535	ZAP70	OMIM:617006
HP:0012210	Abnormal renal morphology	8526	DGKE	OMIM:615008
HP:0012210	Abnormal renal morphology	79693	YRDC	OMIM:619609
HP:0012210	Abnormal renal morphology	10677	AVIL	OMIM:618594
HP:0012210	Abnormal renal morphology	57104	PNPLA2	ORPHA:565612
HP:0012210	Abnormal renal morphology	254428	SLC41A1	OMIM:619468
HP:0012210	Abnormal renal morphology	7289	TULP3	OMIM:619902
HP:0012210	Abnormal renal morphology	29880	ALG5	OMIM:620056
HP:0012210	Abnormal renal morphology	4629	MYH11	OMIM:619351
HP:0012210	Abnormal renal morphology	977	CD151	OMIM:609057
HP:0012210	Abnormal renal morphology	2212	FCGR2A	OMIM:152700
HP:0012210	Abnormal renal morphology	2213	FCGR2B	OMIM:152700
HP:0012210	Abnormal renal morphology	1773	DNASE1	OMIM:152700
HP:0012210	Abnormal renal morphology	894	CCND2	ORPHA:83473
HP:0012210	Abnormal renal morphology	5296	PIK3R2	ORPHA:83473
HP:0012210	Abnormal renal morphology	10000	AKT3	ORPHA:83473
HP:0012210	Abnormal renal morphology	9401	RECQL4	ORPHA:1225
HP:0012210	Abnormal renal morphology	55784	MCTP2	ORPHA:1596
HP:0012210	Abnormal renal morphology	2314	FLII	ORPHA:819
HP:0012210	Abnormal renal morphology	23096	IQSEC2	ORPHA:819
HP:0012210	Abnormal renal morphology	10743	RAI1	ORPHA:819
HP:0012210	Abnormal renal morphology	10522	DEAF1	ORPHA:819
HP:0012210	Abnormal renal morphology	672	BRCA1	ORPHA:84
HP:0012210	Abnormal renal morphology	10459	MAD2L2	ORPHA:84
HP:0012210	Abnormal renal morphology	29089	UBE2T	ORPHA:84
HP:0012210	Abnormal renal morphology	675	BRCA2	ORPHA:84
HP:0012210	Abnormal renal morphology	2187	FANCB	ORPHA:84
HP:0012210	Abnormal renal morphology	2189	FANCG	ORPHA:84
HP:0012210	Abnormal renal morphology	5888	RAD51	ORPHA:84
HP:0012210	Abnormal renal morphology	5889	RAD51C	ORPHA:84
HP:0012210	Abnormal renal morphology	83990	BRIP1	ORPHA:84
HP:0012210	Abnormal renal morphology	57697	FANCM	ORPHA:84
HP:0012210	Abnormal renal morphology	79728	PALB2	ORPHA:84
HP:0012210	Abnormal renal morphology	2072	ERCC4	ORPHA:84
HP:0012210	Abnormal renal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012210	Abnormal renal morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012210	Abnormal renal morphology	22931	RAB18	ORPHA:2510
HP:0012210	Abnormal renal morphology	128637	TBC1D20	ORPHA:2510
HP:0012210	Abnormal renal morphology	5781	PTPN11	ORPHA:500
HP:0012210	Abnormal renal morphology	673	BRAF	ORPHA:500
HP:0012210	Abnormal renal morphology	5894	RAF1	ORPHA:500
HP:0012210	Abnormal renal morphology	50945	TBX22	ORPHA:921
HP:0012210	Abnormal renal morphology	51322	WAC	ORPHA:466950
HP:0012210	Abnormal renal morphology	4297	KMT2A	ORPHA:319182
HP:0012210	Abnormal renal morphology	11128	POLR3A	ORPHA:3455
HP:0012210	Abnormal renal morphology	93649	MYOCD	OMIM:618719
HP:0012210	Abnormal renal morphology	9663	LPIN2	ORPHA:77297
HP:0012210	Abnormal renal morphology	348	APOE	OMIM:611771
HP:0012210	Abnormal renal morphology	25974	MMACHC	ORPHA:79282
HP:0012210	Abnormal renal morphology	7454	WAS	ORPHA:906
HP:0012210	Abnormal renal morphology	7456	WIPF1	ORPHA:906
HP:0012210	Abnormal renal morphology	84823	LMNB2	ORPHA:79087
HP:0012210	Abnormal renal morphology	1493	CTLA4	ORPHA:900
HP:0012210	Abnormal renal morphology	26191	PTPN22	ORPHA:900
HP:0012210	Abnormal renal morphology	3115	HLA-DPB1	ORPHA:900
HP:0012210	Abnormal renal morphology	5657	PRTN3	ORPHA:900
HP:0012210	Abnormal renal morphology	3113	HLA-DPA1	ORPHA:900
HP:0012210	Abnormal renal morphology	2303	FOXC2	ORPHA:33001
HP:0012210	Abnormal renal morphology	2335	FN1	ORPHA:84090
HP:0012210	Abnormal renal morphology	1776	DNASE1L3	ORPHA:36412
HP:0012210	Abnormal renal morphology	4556	MT-TE	ORPHA:225
HP:0012210	Abnormal renal morphology	23630	KCNE5	ORPHA:86818
HP:0012210	Abnormal renal morphology	2182	ACSL4	ORPHA:86818
HP:0012210	Abnormal renal morphology	9949	AMMECR1	ORPHA:86818
HP:0012210	Abnormal renal morphology	4552	MTRR	ORPHA:2169
HP:0012210	Abnormal renal morphology	149233	IL23R	ORPHA:117
HP:0012210	Abnormal renal morphology	6775	STAT4	ORPHA:117
HP:0012210	Abnormal renal morphology	3586	IL10	ORPHA:117
HP:0012210	Abnormal renal morphology	4210	MEFV	ORPHA:117
HP:0012210	Abnormal renal morphology	1230	CCR1	ORPHA:117
HP:0012210	Abnormal renal morphology	3592	IL12A	ORPHA:117
HP:0012210	Abnormal renal morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012210	Abnormal renal morphology	3106	HLA-B	ORPHA:117
HP:0012210	Abnormal renal morphology	7099	TLR4	ORPHA:117
HP:0012210	Abnormal renal morphology	3459	IFNGR1	ORPHA:117
HP:0012210	Abnormal renal morphology	337867	UBAC2	ORPHA:117
HP:0012210	Abnormal renal morphology	51752	ERAP1	ORPHA:117
HP:0012210	Abnormal renal morphology	8302	KLRC4	ORPHA:117
HP:0012210	Abnormal renal morphology	4000	LMNA	ORPHA:2348
HP:0012210	Abnormal renal morphology	129563	DIS3L2	OMIM:267000
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:397
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:117
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:36426
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:397
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:797
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:220393
HP:0012211	Abnormal renal physiology	8974	P4HA2	ORPHA:397
HP:0012211	Abnormal renal physiology	51726	DNAJB11	OMIM:618061
HP:0012211	Abnormal renal physiology	51726	DNAJB11	ORPHA:730
HP:0012211	Abnormal renal physiology	4594	MMUT	ORPHA:289916
HP:0012211	Abnormal renal physiology	4594	MMUT	ORPHA:79312
HP:0012211	Abnormal renal physiology	1497	CTNS	OMIM:219800
HP:0012211	Abnormal renal physiology	1497	CTNS	ORPHA:411634
HP:0012211	Abnormal renal physiology	355	FAS	ORPHA:3261
HP:0012211	Abnormal renal physiology	355	FAS	ORPHA:117
HP:0012211	Abnormal renal physiology	356	FASLG	ORPHA:3261
HP:0012211	Abnormal renal physiology	5580	PRKCD	ORPHA:3261
HP:0012211	Abnormal renal physiology	10125	RASGRP1	ORPHA:3261
HP:0012211	Abnormal renal physiology	9860	LRIG2	OMIM:615112
HP:0012211	Abnormal renal physiology	9860	LRIG2	ORPHA:2704
HP:0012211	Abnormal renal physiology	8518	ELP1	ORPHA:1764
HP:0012211	Abnormal renal physiology	1161	ERCC8	ORPHA:90324
HP:0012211	Abnormal renal physiology	1161	ERCC8	ORPHA:90321
HP:0012211	Abnormal renal physiology	1161	ERCC8	OMIM:216400
HP:0012211	Abnormal renal physiology	2074	ERCC6	ORPHA:90324
HP:0012211	Abnormal renal physiology	2074	ERCC6	ORPHA:90321
HP:0012211	Abnormal renal physiology	2074	ERCC6	OMIM:133540
HP:0012211	Abnormal renal physiology	5631	PRPS1	ORPHA:411543
HP:0012211	Abnormal renal physiology	5631	PRPS1	ORPHA:411536
HP:0012211	Abnormal renal physiology	5631	PRPS1	OMIM:300661
HP:0012211	Abnormal renal physiology	57539	WDR35	OMIM:613610
HP:0012211	Abnormal renal physiology	3209	HOXA13	OMIM:140000
HP:0012211	Abnormal renal physiology	84942	WDR73	OMIM:251300
HP:0012211	Abnormal renal physiology	84942	WDR73	ORPHA:83472
HP:0012211	Abnormal renal physiology	1131	CHRM3	ORPHA:2970
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:308990
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:300009
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:300554
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:310468
HP:0012211	Abnormal renal physiology	81839	VANGL1	ORPHA:3027
HP:0012211	Abnormal renal physiology	80199	FUZ	ORPHA:3027
HP:0012211	Abnormal renal physiology	91147	TMEM67	OMIM:602152
HP:0012211	Abnormal renal physiology	91147	TMEM67	OMIM:615991
HP:0012211	Abnormal renal physiology	91147	TMEM67	ORPHA:1454
HP:0012211	Abnormal renal physiology	2072	ERCC4	ORPHA:90321
HP:0012211	Abnormal renal physiology	2072	ERCC4	ORPHA:84
HP:0012211	Abnormal renal physiology	2072	ERCC4	OMIM:610965
HP:0012211	Abnormal renal physiology	4867	NPHP1	OMIM:609583
HP:0012211	Abnormal renal physiology	4867	NPHP1	OMIM:266900
HP:0012211	Abnormal renal physiology	4867	NPHP1	ORPHA:220497
HP:0012211	Abnormal renal physiology	64324	NSD1	ORPHA:821
HP:0012211	Abnormal renal physiology	29072	SETD2	ORPHA:821
HP:0012211	Abnormal renal physiology	10297	APC2	ORPHA:821
HP:0012211	Abnormal renal physiology	79848	CSPP1	ORPHA:397715
HP:0012211	Abnormal renal physiology	9786	KIAA0586	ORPHA:397715
HP:0012211	Abnormal renal physiology	11136	SLC7A9	OMIM:220100
HP:0012211	Abnormal renal physiology	6519	SLC3A1	OMIM:220100
HP:0012211	Abnormal renal physiology	23607	CD2AP	OMIM:607832
HP:0012211	Abnormal renal physiology	4312	MMP1	ORPHA:79408
HP:0012211	Abnormal renal physiology	1294	COL7A1	ORPHA:79408
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:143
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:99880
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:99879
HP:0012211	Abnormal renal physiology	4311	MME	ORPHA:69063
HP:0012211	Abnormal renal physiology	9380	GRHPR	OMIM:260000
HP:0012211	Abnormal renal physiology	9380	GRHPR	ORPHA:93599
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	ORPHA:220497
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	OMIM:619113
HP:0012211	Abnormal renal physiology	65062	TMEM237	ORPHA:220497
HP:0012211	Abnormal renal physiology	65062	TMEM237	ORPHA:2318
HP:0012211	Abnormal renal physiology	79947	DHDDS	OMIM:613861
HP:0012211	Abnormal renal physiology	9640	ZNF592	ORPHA:83472
HP:0012211	Abnormal renal physiology	6523	SLC5A1	ORPHA:35710
HP:0012211	Abnormal renal physiology	4868	NPHS1	OMIM:256300
HP:0012211	Abnormal renal physiology	55034	MOCOS	OMIM:603592
HP:0012211	Abnormal renal physiology	23193	GANAB	ORPHA:730
HP:0012211	Abnormal renal physiology	5310	PKD1	ORPHA:730
HP:0012211	Abnormal renal physiology	5310	PKD1	OMIM:173900
HP:0012211	Abnormal renal physiology	5311	PKD2	ORPHA:730
HP:0012211	Abnormal renal physiology	5311	PKD2	OMIM:613095
HP:0012211	Abnormal renal physiology	29880	ALG5	ORPHA:730
HP:0012211	Abnormal renal physiology	29880	ALG5	OMIM:620056
HP:0012211	Abnormal renal physiology	9742	IFT140	ORPHA:730
HP:0012211	Abnormal renal physiology	9742	IFT140	ORPHA:474
HP:0012211	Abnormal renal physiology	79796	ALG9	ORPHA:730
HP:0012211	Abnormal renal physiology	80114	BICC1	ORPHA:730
HP:0012211	Abnormal renal physiology	80114	BICC1	OMIM:601331
HP:0012211	Abnormal renal physiology	9071	CLDN10	OMIM:617671
HP:0012211	Abnormal renal physiology	81693	AMN	OMIM:618882
HP:0012211	Abnormal renal physiology	3043	HBB	OMIM:603903
HP:0012211	Abnormal renal physiology	8029	CUBN	OMIM:618884
HP:0012211	Abnormal renal physiology	2859	GPR35	ORPHA:171
HP:0012211	Abnormal renal physiology	10507	SEMA4D	ORPHA:171
HP:0012211	Abnormal renal physiology	4485	MST1	ORPHA:171
HP:0012211	Abnormal renal physiology	6925	TCF4	ORPHA:171
HP:0012211	Abnormal renal physiology	54757	FAM20A	OMIM:204690
HP:0012211	Abnormal renal physiology	54757	FAM20A	ORPHA:1031
HP:0012211	Abnormal renal physiology	353	APRT	OMIM:614723
HP:0012211	Abnormal renal physiology	353	APRT	ORPHA:976
HP:0012211	Abnormal renal physiology	412	STS	ORPHA:281090
HP:0012211	Abnormal renal physiology	672	BRCA1	ORPHA:84
HP:0012211	Abnormal renal physiology	10459	MAD2L2	ORPHA:84
HP:0012211	Abnormal renal physiology	7516	XRCC2	ORPHA:84
HP:0012211	Abnormal renal physiology	29089	UBE2T	ORPHA:84
HP:0012211	Abnormal renal physiology	675	BRCA2	ORPHA:84
HP:0012211	Abnormal renal physiology	55120	FANCL	ORPHA:84
HP:0012211	Abnormal renal physiology	2177	FANCD2	ORPHA:84
HP:0012211	Abnormal renal physiology	2175	FANCA	ORPHA:84
HP:0012211	Abnormal renal physiology	2187	FANCB	ORPHA:84
HP:0012211	Abnormal renal physiology	2176	FANCC	ORPHA:84
HP:0012211	Abnormal renal physiology	2178	FANCE	ORPHA:84
HP:0012211	Abnormal renal physiology	2188	FANCF	ORPHA:84
HP:0012211	Abnormal renal physiology	2189	FANCG	ORPHA:84
HP:0012211	Abnormal renal physiology	5888	RAD51	ORPHA:84
HP:0012211	Abnormal renal physiology	5889	RAD51C	ORPHA:84
HP:0012211	Abnormal renal physiology	55159	RFWD3	ORPHA:84
HP:0012211	Abnormal renal physiology	83990	BRIP1	ORPHA:84
HP:0012211	Abnormal renal physiology	57697	FANCM	ORPHA:84
HP:0012211	Abnormal renal physiology	79728	PALB2	ORPHA:84
HP:0012211	Abnormal renal physiology	84464	SLX4	ORPHA:84
HP:0012211	Abnormal renal physiology	55215	FANCI	ORPHA:84
HP:0012211	Abnormal renal physiology	6899	TBX1	OMIM:188400
HP:0012211	Abnormal renal physiology	1175	AP2S1	OMIM:600740
HP:0012211	Abnormal renal physiology	203286	ANKS6	OMIM:615382
HP:0012211	Abnormal renal physiology	5224	PGAM2	OMIM:261670
HP:0012211	Abnormal renal physiology	60495	HPSE2	ORPHA:2704
HP:0012211	Abnormal renal physiology	950	SCARB2	OMIM:254900
HP:0012211	Abnormal renal physiology	9096	TBX18	OMIM:143400
HP:0012211	Abnormal renal physiology	5230	PGK1	ORPHA:713
HP:0012211	Abnormal renal physiology	5230	PGK1	OMIM:300653
HP:0012211	Abnormal renal physiology	3265	HRAS	OMIM:218040
HP:0012211	Abnormal renal physiology	7490	WT1	OMIM:194072
HP:0012211	Abnormal renal physiology	7490	WT1	ORPHA:347
HP:0012211	Abnormal renal physiology	7490	WT1	OMIM:256370
HP:0012211	Abnormal renal physiology	5080	PAX6	OMIM:194072
HP:0012211	Abnormal renal physiology	54345	SOX18	OMIM:137940
HP:0012211	Abnormal renal physiology	55112	DYNC2I1	ORPHA:474
HP:0012211	Abnormal renal physiology	26160	IFT172	ORPHA:474
HP:0012211	Abnormal renal physiology	153241	CEP120	ORPHA:474
HP:0012211	Abnormal renal physiology	57560	IFT80	ORPHA:474
HP:0012211	Abnormal renal physiology	51626	DYNC2LI1	ORPHA:474
HP:0012211	Abnormal renal physiology	79659	DYNC2H1	ORPHA:474
HP:0012211	Abnormal renal physiology	57728	WDR19	ORPHA:474
HP:0012211	Abnormal renal physiology	89891	DYNC2I2	ORPHA:474
HP:0012211	Abnormal renal physiology	79809	TTC21B	ORPHA:474
HP:0012211	Abnormal renal physiology	1187	CLCNKA	OMIM:613090
HP:0012211	Abnormal renal physiology	5314	PKHD1	OMIM:263200
HP:0012211	Abnormal renal physiology	5314	PKHD1	ORPHA:731
HP:0012211	Abnormal renal physiology	114548	NLRP3	OMIM:191900
HP:0012211	Abnormal renal physiology	10908	PNPLA6	ORPHA:2377
HP:0012211	Abnormal renal physiology	1282	COL4A1	ORPHA:73229
HP:0012211	Abnormal renal physiology	1282	COL4A1	OMIM:611773
HP:0012211	Abnormal renal physiology	6804	STX1A	ORPHA:904
HP:0012211	Abnormal renal physiology	7461	CLIP2	ORPHA:904
HP:0012211	Abnormal renal physiology	84277	DNAJC30	ORPHA:904
HP:0012211	Abnormal renal physiology	8468	FKBP6	ORPHA:904
HP:0012211	Abnormal renal physiology	5982	RFC2	ORPHA:904
HP:0012211	Abnormal renal physiology	2969	GTF2I	ORPHA:904
HP:0012211	Abnormal renal physiology	3984	LIMK1	ORPHA:904
HP:0012211	Abnormal renal physiology	9569	GTF2IRD1	ORPHA:904
HP:0012211	Abnormal renal physiology	155382	VPS37D	ORPHA:904
HP:0012211	Abnormal renal physiology	155368	METTL27	ORPHA:904
HP:0012211	Abnormal renal physiology	114049	BUD23	ORPHA:904
HP:0012211	Abnormal renal physiology	7458	EIF4H	ORPHA:904
HP:0012211	Abnormal renal physiology	84163	GTF2IRD2	ORPHA:904
HP:0012211	Abnormal renal physiology	9275	BCL7B	ORPHA:904
HP:0012211	Abnormal renal physiology	26608	TBL2	ORPHA:904
HP:0012211	Abnormal renal physiology	653361	NCF1	ORPHA:904
HP:0012211	Abnormal renal physiology	135886	TMEM270	ORPHA:904
HP:0012211	Abnormal renal physiology	51085	MLXIPL	ORPHA:904
HP:0012211	Abnormal renal physiology	51085	MLXIPL	OMIM:194050
HP:0012211	Abnormal renal physiology	9031	BAZ1B	ORPHA:904
HP:0012211	Abnormal renal physiology	2006	ELN	ORPHA:904
HP:0012211	Abnormal renal physiology	2006	ELN	OMIM:194050
HP:0012211	Abnormal renal physiology	3115	HLA-DPB1	ORPHA:900
HP:0012211	Abnormal renal physiology	5657	PRTN3	ORPHA:900
HP:0012211	Abnormal renal physiology	3113	HLA-DPA1	ORPHA:900
HP:0012211	Abnormal renal physiology	8659	ALDH4A1	ORPHA:79101
HP:0012211	Abnormal renal physiology	3675	ITGA3	OMIM:614748
HP:0012211	Abnormal renal physiology	4952	OCRL	OMIM:309000
HP:0012211	Abnormal renal physiology	4952	OCRL	ORPHA:534
HP:0012211	Abnormal renal physiology	4567	MT-TL1	ORPHA:225
HP:0012211	Abnormal renal physiology	4556	MT-TE	ORPHA:225
HP:0012211	Abnormal renal physiology	4566	MT-TK	ORPHA:225
HP:0012211	Abnormal renal physiology	2138	EYA1	ORPHA:107
HP:0012211	Abnormal renal physiology	147912	SIX5	ORPHA:107
HP:0012211	Abnormal renal physiology	147912	SIX5	OMIM:610896
HP:0012211	Abnormal renal physiology	6495	SIX1	ORPHA:107
HP:0012211	Abnormal renal physiology	229	ALDOB	ORPHA:469
HP:0012211	Abnormal renal physiology	56052	ALG1	ORPHA:79327
HP:0012211	Abnormal renal physiology	554	AVPR2	ORPHA:223
HP:0012211	Abnormal renal physiology	359	AQP2	ORPHA:223
HP:0012211	Abnormal renal physiology	3931	LCAT	OMIM:245900
HP:0012211	Abnormal renal physiology	3251	HPRT1	OMIM:300323
HP:0012211	Abnormal renal physiology	3251	HPRT1	ORPHA:79233
HP:0012211	Abnormal renal physiology	3251	HPRT1	ORPHA:510
HP:0012211	Abnormal renal physiology	92002	CCNQ	ORPHA:140952
HP:0012211	Abnormal renal physiology	23175	LPIN1	ORPHA:99845
HP:0012211	Abnormal renal physiology	4512	MT-CO1	ORPHA:99845
HP:0012211	Abnormal renal physiology	4514	MT-CO3	ORPHA:99845
HP:0012211	Abnormal renal physiology	1962	EHHADH	OMIM:615605
HP:0012211	Abnormal renal physiology	9968	MED12	OMIM:301068
HP:0012211	Abnormal renal physiology	79989	IFT56	OMIM:619534
HP:0012211	Abnormal renal physiology	2717	GLA	OMIM:301500
HP:0012211	Abnormal renal physiology	2717	GLA	ORPHA:324
HP:0012211	Abnormal renal physiology	4193	MDM2	OMIM:618681
HP:0012211	Abnormal renal physiology	10463	SLC30A9	OMIM:617595
HP:0012211	Abnormal renal physiology	2625	GATA3	ORPHA:2237
HP:0012211	Abnormal renal physiology	54916	TMEM260	OMIM:617478
HP:0012211	Abnormal renal physiology	3458	IFNG	ORPHA:805
HP:0012211	Abnormal renal physiology	7248	TSC1	ORPHA:805
HP:0012211	Abnormal renal physiology	7249	TSC2	ORPHA:805
HP:0012211	Abnormal renal physiology	2184	FAH	OMIM:276700
HP:0012211	Abnormal renal physiology	2542	SLC37A4	OMIM:232240
HP:0012211	Abnormal renal physiology	286204	CRB2	OMIM:219730
HP:0012211	Abnormal renal physiology	4615	MYD88	ORPHA:33226
HP:0012211	Abnormal renal physiology	1376	CPT2	OMIM:255110
HP:0012211	Abnormal renal physiology	1376	CPT2	OMIM:608836
HP:0012211	Abnormal renal physiology	1376	CPT2	ORPHA:228302
HP:0012211	Abnormal renal physiology	1376	CPT2	ORPHA:228308
HP:0012211	Abnormal renal physiology	27241	BBS9	OMIM:615986
HP:0012211	Abnormal renal physiology	79738	BBS10	OMIM:615987
HP:0012211	Abnormal renal physiology	2934	GSN	OMIM:105120
HP:0012211	Abnormal renal physiology	149233	IL23R	ORPHA:117
HP:0012211	Abnormal renal physiology	3586	IL10	ORPHA:117
HP:0012211	Abnormal renal physiology	4210	MEFV	ORPHA:117
HP:0012211	Abnormal renal physiology	4210	MEFV	OMIM:134610
HP:0012211	Abnormal renal physiology	1230	CCR1	ORPHA:117
HP:0012211	Abnormal renal physiology	3592	IL12A	ORPHA:117
HP:0012211	Abnormal renal physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012211	Abnormal renal physiology	7099	TLR4	ORPHA:117
HP:0012211	Abnormal renal physiology	3459	IFNGR1	ORPHA:117
HP:0012211	Abnormal renal physiology	720	C4A	ORPHA:117
HP:0012211	Abnormal renal physiology	337867	UBAC2	ORPHA:117
HP:0012211	Abnormal renal physiology	51752	ERAP1	ORPHA:117
HP:0012211	Abnormal renal physiology	8302	KLRC4	ORPHA:117
HP:0012211	Abnormal renal physiology	80184	CEP290	OMIM:615991
HP:0012211	Abnormal renal physiology	80184	CEP290	ORPHA:2318
HP:0012211	Abnormal renal physiology	92482	BBIP1	OMIM:615995
HP:0012211	Abnormal renal physiology	11020	IFT27	OMIM:615996
HP:0012211	Abnormal renal physiology	10806	SDCCAG8	OMIM:615993
HP:0012211	Abnormal renal physiology	51259	TMEM216	OMIM:608091
HP:0012211	Abnormal renal physiology	51259	TMEM216	ORPHA:2318
HP:0012211	Abnormal renal physiology	79813	EHMT1	ORPHA:96147
HP:0012211	Abnormal renal physiology	81570	CLPB	ORPHA:445038
HP:0012211	Abnormal renal physiology	6299	SALL1	OMIM:107480
HP:0012211	Abnormal renal physiology	6299	SALL1	ORPHA:857
HP:0012211	Abnormal renal physiology	5076	PAX2	ORPHA:1475
HP:0012211	Abnormal renal physiology	23729	SHPK	ORPHA:440713
HP:0012211	Abnormal renal physiology	3939	LDHA	OMIM:612933
HP:0012211	Abnormal renal physiology	23005	MAPKBP1	OMIM:617271
HP:0012211	Abnormal renal physiology	10320	IKZF1	ORPHA:36426
HP:0012211	Abnormal renal physiology	486	FXYD2	OMIM:154020
HP:0012211	Abnormal renal physiology	1108	CHD4	OMIM:617159
HP:0012211	Abnormal renal physiology	4221	MEN1	ORPHA:99879
HP:0012211	Abnormal renal physiology	9247	GCM2	ORPHA:99879
HP:0012211	Abnormal renal physiology	79583	TMEM231	ORPHA:2318
HP:0012211	Abnormal renal physiology	51524	TMEM138	ORPHA:2318
HP:0012211	Abnormal renal physiology	23090	ZNF423	ORPHA:2318
HP:0012211	Abnormal renal physiology	57545	CC2D2A	ORPHA:2318
HP:0012211	Abnormal renal physiology	57545	CC2D2A	ORPHA:1454
HP:0012211	Abnormal renal physiology	5277	PIGA	ORPHA:447
HP:0012211	Abnormal renal physiology	3291	HSD11B2	ORPHA:320
HP:0012211	Abnormal renal physiology	7809	BSND	OMIM:602522
HP:0012211	Abnormal renal physiology	254428	SLC41A1	OMIM:619468
HP:0012211	Abnormal renal physiology	9451	EIF2AK3	OMIM:226980
HP:0012211	Abnormal renal physiology	9451	EIF2AK3	ORPHA:1667
HP:0012211	Abnormal renal physiology	56623	INPP5E	ORPHA:1454
HP:0012211	Abnormal renal physiology	27031	NPHP3	OMIM:604387
HP:0012211	Abnormal renal physiology	27031	NPHP3	OMIM:208540
HP:0012211	Abnormal renal physiology	151516	ASPRV1	ORPHA:313
HP:0012211	Abnormal renal physiology	242	ALOX12B	ORPHA:313
HP:0012211	Abnormal renal physiology	126410	CYP4F22	ORPHA:313
HP:0012211	Abnormal renal physiology	6820	SULT2B1	ORPHA:313
HP:0012211	Abnormal renal physiology	26154	ABCA12	ORPHA:313
HP:0012211	Abnormal renal physiology	643418	LIPN	ORPHA:313
HP:0012211	Abnormal renal physiology	59344	ALOXE3	ORPHA:313
HP:0012211	Abnormal renal physiology	348938	NIPAL4	ORPHA:313
HP:0012211	Abnormal renal physiology	121214	SDR9C7	ORPHA:313
HP:0012211	Abnormal renal physiology	7051	TGM1	ORPHA:313
HP:0012211	Abnormal renal physiology	56244	BTNL2	ORPHA:797
HP:0012211	Abnormal renal physiology	23476	BRD4	ORPHA:199
HP:0012211	Abnormal renal physiology	9126	SMC3	ORPHA:199
HP:0012211	Abnormal renal physiology	8243	SMC1A	ORPHA:199
HP:0012211	Abnormal renal physiology	25836	NIPBL	ORPHA:199
HP:0012211	Abnormal renal physiology	55869	HDAC8	ORPHA:199
HP:0012211	Abnormal renal physiology	5885	RAD21	ORPHA:199
HP:0012211	Abnormal renal physiology	6338	SCNN1B	OMIM:177200
HP:0012211	Abnormal renal physiology	6338	SCNN1B	ORPHA:526
HP:0012211	Abnormal renal physiology	3975	LHX1	ORPHA:261265
HP:0012211	Abnormal renal physiology	6928	HNF1B	ORPHA:261265
HP:0012211	Abnormal renal physiology	6928	HNF1B	ORPHA:93111
HP:0012211	Abnormal renal physiology	4576	MT-TT	ORPHA:254857
HP:0012211	Abnormal renal physiology	189	AGXT	OMIM:259900
HP:0012211	Abnormal renal physiology	3257	HPS1	OMIM:203300
HP:0012211	Abnormal renal physiology	54796	BNC2	ORPHA:93110
HP:0012211	Abnormal renal physiology	2335	FN1	ORPHA:84090
HP:0012211	Abnormal renal physiology	2335	FN1	OMIM:601894
HP:0012211	Abnormal renal physiology	23630	KCNE5	ORPHA:86818
HP:0012211	Abnormal renal physiology	2182	ACSL4	ORPHA:86818
HP:0012211	Abnormal renal physiology	9949	AMMECR1	ORPHA:86818
HP:0012211	Abnormal renal physiology	284252	KCTD1	OMIM:181270
HP:0012211	Abnormal renal physiology	100147744	RNU7-1	OMIM:619487
HP:0012211	Abnormal renal physiology	2628	GATM	OMIM:134600
HP:0012211	Abnormal renal physiology	6569	SLC34A1	OMIM:613388
HP:0012211	Abnormal renal physiology	100506658	OCLN	OMIM:251290
HP:0012211	Abnormal renal physiology	50485	SMARCAL1	OMIM:242900
HP:0012211	Abnormal renal physiology	51339	DACT1	ORPHA:857
HP:0012211	Abnormal renal physiology	199221	DZIP1L	ORPHA:731
HP:0012211	Abnormal renal physiology	5264	PHYH	ORPHA:773
HP:0012211	Abnormal renal physiology	5191	PEX7	ORPHA:773
HP:0012211	Abnormal renal physiology	348	APOE	OMIM:611771
HP:0012211	Abnormal renal physiology	55005	RMND1	OMIM:614922
HP:0012211	Abnormal renal physiology	6340	SCNN1G	ORPHA:526
HP:0012211	Abnormal renal physiology	6337	SCNN1A	ORPHA:526
HP:0012211	Abnormal renal physiology	4853	NOTCH2	OMIM:610205
HP:0012211	Abnormal renal physiology	8481	OFD1	ORPHA:2750
HP:0012211	Abnormal renal physiology	23592	LEMD3	ORPHA:1306
HP:0012211	Abnormal renal physiology	81494	CFHR5	OMIM:614809
HP:0012211	Abnormal renal physiology	3735	KARS1	OMIM:619147
HP:0012211	Abnormal renal physiology	5087	PBX1	OMIM:617641
HP:0012211	Abnormal renal physiology	9054	NFS1	OMIM:619386
HP:0012211	Abnormal renal physiology	1235	CCR6	ORPHA:220393
HP:0012211	Abnormal renal physiology	1490	CCN2	ORPHA:220393
HP:0012211	Abnormal renal physiology	3663	IRF5	ORPHA:220393
HP:0012211	Abnormal renal physiology	857	CAV1	ORPHA:220393
HP:0012211	Abnormal renal physiology	9935	MAFB	OMIM:166300
HP:0012211	Abnormal renal physiology	3145	HMBS	ORPHA:79276
HP:0012211	Abnormal renal physiology	9056	SLC7A7	ORPHA:470
HP:0012211	Abnormal renal physiology	8651	SOCS1	OMIM:619375
HP:0012211	Abnormal renal physiology	50943	FOXP3	OMIM:304790
HP:0012211	Abnormal renal physiology	81603	TRIM8	OMIM:619428
HP:0012211	Abnormal renal physiology	10785	WDR4	OMIM:618347
HP:0012211	Abnormal renal physiology	10785	WDR4	ORPHA:2065
HP:0012211	Abnormal renal physiology	9342	SNAP29	ORPHA:66631
HP:0012211	Abnormal renal physiology	27235	COQ2	OMIM:607426
HP:0012211	Abnormal renal physiology	27235	COQ2	ORPHA:255249
HP:0012211	Abnormal renal physiology	5921	RASA1	ORPHA:90307
HP:0012211	Abnormal renal physiology	708	C1QBP	OMIM:617713
HP:0012211	Abnormal renal physiology	79415	CYBC1	OMIM:618935
HP:0012211	Abnormal renal physiology	6662	SOX9	ORPHA:251510
HP:0012211	Abnormal renal physiology	6845	VAMP7	ORPHA:251510
HP:0012211	Abnormal renal physiology	51741	WWOX	ORPHA:251510
HP:0012211	Abnormal renal physiology	4214	MAP3K1	ORPHA:251510
HP:0012211	Abnormal renal physiology	2516	NR5A1	ORPHA:251510
HP:0012211	Abnormal renal physiology	58524	DMRT3	ORPHA:251510
HP:0012211	Abnormal renal physiology	57647	DHX37	ORPHA:251510
HP:0012211	Abnormal renal physiology	6736	SRY	ORPHA:251510
HP:0012211	Abnormal renal physiology	23414	ZFPM2	ORPHA:251510
HP:0012211	Abnormal renal physiology	190	NR0B1	ORPHA:251510
HP:0012211	Abnormal renal physiology	2626	GATA4	ORPHA:251510
HP:0012211	Abnormal renal physiology	4069	LYZ	OMIM:105200
HP:0012211	Abnormal renal physiology	2243	FGA	OMIM:105200
HP:0012211	Abnormal renal physiology	335	APOA1	OMIM:105200
HP:0012211	Abnormal renal physiology	582	BBS1	ORPHA:110
HP:0012211	Abnormal renal physiology	49855	SCAPER	ORPHA:110
HP:0012211	Abnormal renal physiology	51057	WDPCP	ORPHA:110
HP:0012211	Abnormal renal physiology	84984	CEP19	ORPHA:110
HP:0012211	Abnormal renal physiology	22954	TRIM32	ORPHA:110
HP:0012211	Abnormal renal physiology	54903	MKS1	ORPHA:110
HP:0012211	Abnormal renal physiology	123016	TTC8	ORPHA:110
HP:0012211	Abnormal renal physiology	583	BBS2	ORPHA:110
HP:0012211	Abnormal renal physiology	585	BBS4	ORPHA:110
HP:0012211	Abnormal renal physiology	8195	MKKS	ORPHA:110
HP:0012211	Abnormal renal physiology	55212	BBS7	ORPHA:110
HP:0012211	Abnormal renal physiology	166379	BBS12	ORPHA:110
HP:0012211	Abnormal renal physiology	157657	CFAP418	ORPHA:110
HP:0012211	Abnormal renal physiology	84100	ARL6	ORPHA:110
HP:0012211	Abnormal renal physiology	129880	BBS5	ORPHA:110
HP:0012211	Abnormal renal physiology	80173	IFT74	ORPHA:110
HP:0012211	Abnormal renal physiology	595	CCND1	ORPHA:29073
HP:0012211	Abnormal renal physiology	5265	SERPINA1	ORPHA:60
HP:0012211	Abnormal renal physiology	6023	RMRP	ORPHA:39041
HP:0012211	Abnormal renal physiology	55636	CHD7	ORPHA:39041
HP:0012211	Abnormal renal physiology	3981	LIG4	ORPHA:39041
HP:0012211	Abnormal renal physiology	5896	RAG1	ORPHA:39041
HP:0012211	Abnormal renal physiology	5897	RAG2	ORPHA:39041
HP:0012211	Abnormal renal physiology	64421	DCLRE1C	ORPHA:39041
HP:0012211	Abnormal renal physiology	100	ADA	ORPHA:39041
HP:0012211	Abnormal renal physiology	3575	IL7R	ORPHA:39041
HP:0012211	Abnormal renal physiology	3561	IL2RG	ORPHA:39041
HP:0012211	Abnormal renal physiology	113189	CHST14	OMIM:601776
HP:0012211	Abnormal renal physiology	64135	IFIH1	OMIM:615846
HP:0012211	Abnormal renal physiology	57107	PDSS2	ORPHA:255249
HP:0012211	Abnormal renal physiology	57107	PDSS2	OMIM:614652
HP:0012211	Abnormal renal physiology	4141	MARS1	ORPHA:401835
HP:0012211	Abnormal renal physiology	26503	SLC17A5	OMIM:269920
HP:0012211	Abnormal renal physiology	83483	PLVAP	OMIM:618183
HP:0012211	Abnormal renal physiology	10916	MAGED2	OMIM:300971
HP:0012211	Abnormal renal physiology	9365	KL	OMIM:617994
HP:0012211	Abnormal renal physiology	6557	SLC12A1	OMIM:601678
HP:0012211	Abnormal renal physiology	3710	ITPR3	OMIM:222100
HP:0012211	Abnormal renal physiology	3569	IL6	OMIM:222100
HP:0012211	Abnormal renal physiology	6651	SON	OMIM:617140
HP:0012211	Abnormal renal physiology	3758	KCNJ1	OMIM:241200
HP:0012211	Abnormal renal physiology	1591	CYP24A1	OMIM:143880
HP:0012211	Abnormal renal physiology	476	ATP1A1	OMIM:618314
HP:0012211	Abnormal renal physiology	58528	RRAGD	OMIM:620152
HP:0012211	Abnormal renal physiology	8462	KLF11	ORPHA:552
HP:0012211	Abnormal renal physiology	26060	APPL1	ORPHA:552
HP:0012211	Abnormal renal physiology	640	BLK	ORPHA:552
HP:0012211	Abnormal renal physiology	1056	CEL	ORPHA:552
HP:0012211	Abnormal renal physiology	4760	NEUROD1	ORPHA:552
HP:0012211	Abnormal renal physiology	5078	PAX4	ORPHA:552
HP:0012211	Abnormal renal physiology	3172	HNF4A	ORPHA:552
HP:0012211	Abnormal renal physiology	6927	HNF1A	ORPHA:552
HP:0012211	Abnormal renal physiology	7454	WAS	OMIM:301000
HP:0012211	Abnormal renal physiology	7454	WAS	ORPHA:906
HP:0012211	Abnormal renal physiology	7456	WIPF1	ORPHA:906
HP:0012211	Abnormal renal physiology	493856	CISD2	ORPHA:3463
HP:0012211	Abnormal renal physiology	7466	WFS1	ORPHA:3463
HP:0012211	Abnormal renal physiology	3766	KCNJ10	ORPHA:705
HP:0012211	Abnormal renal physiology	2299	FOXI1	ORPHA:705
HP:0012211	Abnormal renal physiology	5172	SLC26A4	ORPHA:705
HP:0012211	Abnormal renal physiology	51816	ADA2	ORPHA:820
HP:0012211	Abnormal renal physiology	5625	PRODH	ORPHA:419
HP:0012211	Abnormal renal physiology	3090	HIC1	ORPHA:531
HP:0012211	Abnormal renal physiology	5048	PAFAH1B1	ORPHA:531
HP:0012211	Abnormal renal physiology	7531	YWHAE	ORPHA:531
HP:0012211	Abnormal renal physiology	1371	CPOX	ORPHA:79273
HP:0012211	Abnormal renal physiology	4351	MPI	OMIM:602579
HP:0012211	Abnormal renal physiology	4558	MT-TF	ORPHA:550
HP:0012211	Abnormal renal physiology	4572	MT-TQ	ORPHA:550
HP:0012211	Abnormal renal physiology	4513	MT-CO2	ORPHA:550
HP:0012211	Abnormal renal physiology	4578	MT-TW	ORPHA:550
HP:0012211	Abnormal renal physiology	4540	MT-ND5	ORPHA:550
HP:0012211	Abnormal renal physiology	4541	MT-ND6	ORPHA:550
HP:0012211	Abnormal renal physiology	4535	MT-ND1	ORPHA:550
HP:0012211	Abnormal renal physiology	4535	MT-ND1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4538	MT-ND4	ORPHA:550
HP:0012211	Abnormal renal physiology	4574	MT-TS1	ORPHA:550
HP:0012211	Abnormal renal physiology	4575	MT-TS2	ORPHA:550
HP:0012211	Abnormal renal physiology	4564	MT-TH	ORPHA:550
HP:0012211	Abnormal renal physiology	54539	NDUFB11	ORPHA:2609
HP:0012211	Abnormal renal physiology	25915	NDUFAF3	ORPHA:2609
HP:0012211	Abnormal renal physiology	51103	NDUFAF1	ORPHA:2609
HP:0012211	Abnormal renal physiology	91942	NDUFAF2	ORPHA:2609
HP:0012211	Abnormal renal physiology	51300	TIMMDC1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4716	NDUFB10	ORPHA:2609
HP:0012211	Abnormal renal physiology	4723	NDUFV1	ORPHA:2609
HP:0012211	Abnormal renal physiology	55572	FOXRED1	ORPHA:2609
HP:0012211	Abnormal renal physiology	284184	NDUFAF8	ORPHA:2609
HP:0012211	Abnormal renal physiology	55863	TMEM126B	ORPHA:2609
HP:0012211	Abnormal renal physiology	4537	MT-ND3	ORPHA:2609
HP:0012211	Abnormal renal physiology	4729	NDUFV2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4694	NDUFA1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4720	NDUFS2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4724	NDUFS4	ORPHA:2609
HP:0012211	Abnormal renal physiology	4726	NDUFS6	ORPHA:2609
HP:0012211	Abnormal renal physiology	4728	NDUFS8	ORPHA:2609
HP:0012211	Abnormal renal physiology	4722	NDUFS3	ORPHA:2609
HP:0012211	Abnormal renal physiology	79133	NDUFAF5	ORPHA:2609
HP:0012211	Abnormal renal physiology	126328	NDUFA11	ORPHA:2609
HP:0012211	Abnormal renal physiology	4709	NDUFB3	ORPHA:2609
HP:0012211	Abnormal renal physiology	80224	NUBPL	ORPHA:2609
HP:0012211	Abnormal renal physiology	29078	NDUFAF4	ORPHA:2609
HP:0012211	Abnormal renal physiology	374291	NDUFS7	ORPHA:2609
HP:0012211	Abnormal renal physiology	4700	NDUFA6	ORPHA:2609
HP:0012211	Abnormal renal physiology	4536	MT-ND2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4719	NDUFS1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4715	NDUFB9	ORPHA:2609
HP:0012211	Abnormal renal physiology	50484	RRM2B	OMIM:612075
HP:0012211	Abnormal renal physiology	57511	COG6	OMIM:614576
HP:0012211	Abnormal renal physiology	2108	ETFA	OMIM:231680
HP:0012211	Abnormal renal physiology	2109	ETFB	OMIM:231680
HP:0012211	Abnormal renal physiology	2110	ETFDH	OMIM:231680
HP:0012211	Abnormal renal physiology	5373	PMM2	OMIM:212065
HP:0012211	Abnormal renal physiology	7369	UMOD	OMIM:162000
HP:0012211	Abnormal renal physiology	4613	MYCN	ORPHA:391641
HP:0012211	Abnormal renal physiology	1285	COL4A3	OMIM:203780
HP:0012211	Abnormal renal physiology	1285	COL4A3	OMIM:104200
HP:0012211	Abnormal renal physiology	1286	COL4A4	OMIM:203780
HP:0012211	Abnormal renal physiology	4010	LMX1B	ORPHA:2614
HP:0012211	Abnormal renal physiology	6775	STAT4	ORPHA:93552
HP:0012211	Abnormal renal physiology	6696	SPP1	ORPHA:93552
HP:0012211	Abnormal renal physiology	3654	IRAK1	ORPHA:93552
HP:0012211	Abnormal renal physiology	7840	ALMS1	OMIM:203800
HP:0012211	Abnormal renal physiology	3162	HMOX1	OMIM:614034
HP:0012211	Abnormal renal physiology	65082	VPS33A	OMIM:617303
HP:0012211	Abnormal renal physiology	843	CASP10	OMIM:603909
HP:0012211	Abnormal renal physiology	5340	PLG	OMIM:217090
HP:0012211	Abnormal renal physiology	4627	MYH9	ORPHA:182050
HP:0012211	Abnormal renal physiology	1287	COL4A5	OMIM:301050
HP:0012211	Abnormal renal physiology	977	CD151	OMIM:609057
HP:0012211	Abnormal renal physiology	2778	GNAS	ORPHA:562
HP:0012211	Abnormal renal physiology	5251	PHEX	OMIM:307800
HP:0012211	Abnormal renal physiology	6524	SLC5A2	ORPHA:69076
HP:0012211	Abnormal renal physiology	6514	SLC2A2	OMIM:227810
HP:0012211	Abnormal renal physiology	4570	MT-TN	OMIM:220110
HP:0012211	Abnormal renal physiology	6834	SURF1	OMIM:220110
HP:0012211	Abnormal renal physiology	142680	SLC34A3	OMIM:241530
HP:0012211	Abnormal renal physiology	57570	TRMT5	OMIM:616539
HP:0012211	Abnormal renal physiology	5824	PEX19	OMIM:614886
HP:0012211	Abnormal renal physiology	84334	COA8	ORPHA:436271
HP:0012211	Abnormal renal physiology	540	ATP7B	OMIM:277900
HP:0012211	Abnormal renal physiology	3767	KCNJ11	ORPHA:99885
HP:0012211	Abnormal renal physiology	6774	STAT3	ORPHA:99885
HP:0012211	Abnormal renal physiology	2645	GCK	ORPHA:99885
HP:0012211	Abnormal renal physiology	3651	PDX1	ORPHA:99885
HP:0012211	Abnormal renal physiology	6833	ABCC8	ORPHA:99885
HP:0012211	Abnormal renal physiology	3630	INS	ORPHA:99885
HP:0012211	Abnormal renal physiology	3762	KCNJ5	ORPHA:37553
HP:0012211	Abnormal renal physiology	3759	KCNJ2	ORPHA:37553
HP:0012211	Abnormal renal physiology	3655	ITGA6	ORPHA:79403
HP:0012211	Abnormal renal physiology	3691	ITGB4	ORPHA:79403
HP:0012211	Abnormal renal physiology	6720	SREBF1	OMIM:158310
HP:0012211	Abnormal renal physiology	23395	LARS2	OMIM:617021
HP:0012211	Abnormal renal physiology	10413	YAP1	ORPHA:1473
HP:0012211	Abnormal renal physiology	10413	YAP1	OMIM:120433
HP:0012211	Abnormal renal physiology	5978	REST	ORPHA:654
HP:0012211	Abnormal renal physiology	129563	DIS3L2	ORPHA:654
HP:0012211	Abnormal renal physiology	9319	TRIP13	ORPHA:654
HP:0012211	Abnormal renal physiology	10155	TRIM28	ORPHA:654
HP:0012211	Abnormal renal physiology	11281	POU6F2	ORPHA:654
HP:0012211	Abnormal renal physiology	2719	GPC3	ORPHA:654
HP:0012211	Abnormal renal physiology	283120	H19	ORPHA:654
HP:0012211	Abnormal renal physiology	1801	DPH1	OMIM:616901
HP:0012211	Abnormal renal physiology	55109	AGGF1	ORPHA:90308
HP:0012211	Abnormal renal physiology	2159	F10	ORPHA:328
HP:0012211	Abnormal renal physiology	7428	VHL	ORPHA:276621
HP:0012211	Abnormal renal physiology	7428	VHL	ORPHA:29072
HP:0012211	Abnormal renal physiology	5979	RET	ORPHA:276621
HP:0012211	Abnormal renal physiology	5979	RET	ORPHA:29072
HP:0012211	Abnormal renal physiology	1788	DNMT3A	ORPHA:276621
HP:0012211	Abnormal renal physiology	2034	EPAS1	ORPHA:276621
HP:0012211	Abnormal renal physiology	6392	SDHD	ORPHA:276621
HP:0012211	Abnormal renal physiology	6392	SDHD	ORPHA:29072
HP:0012211	Abnormal renal physiology	6390	SDHB	ORPHA:276621
HP:0012211	Abnormal renal physiology	6390	SDHB	ORPHA:29072
HP:0012211	Abnormal renal physiology	2153	F5	ORPHA:326
HP:0012211	Abnormal renal physiology	84818	IL17RC	ORPHA:1334
HP:0012211	Abnormal renal physiology	64581	CLEC7A	ORPHA:1334
HP:0012211	Abnormal renal physiology	23765	IL17RA	ORPHA:1334
HP:0012211	Abnormal renal physiology	10758	TRAF3IP2	ORPHA:1334
HP:0012211	Abnormal renal physiology	112744	IL17F	ORPHA:1334
HP:0012211	Abnormal renal physiology	6711	SPTBN1	OMIM:619475
HP:0012211	Abnormal renal physiology	1743	DLST	ORPHA:29072
HP:0012211	Abnormal renal physiology	4191	MDH2	ORPHA:29072
HP:0012211	Abnormal renal physiology	6389	SDHA	ORPHA:29072
HP:0012211	Abnormal renal physiology	23095	KIF1B	ORPHA:29072
HP:0012211	Abnormal renal physiology	2271	FH	ORPHA:29072
HP:0012211	Abnormal renal physiology	8402	SLC25A11	ORPHA:29072
HP:0012211	Abnormal renal physiology	54949	SDHAF2	ORPHA:29072
HP:0012211	Abnormal renal physiology	55654	TMEM127	ORPHA:29072
HP:0012211	Abnormal renal physiology	6391	SDHC	ORPHA:29072
HP:0012211	Abnormal renal physiology	4149	MAX	ORPHA:29072
HP:0012211	Abnormal renal physiology	5345	SERPINF2	ORPHA:79
HP:0012211	Abnormal renal physiology	3998	LMAN1	ORPHA:35909
HP:0012211	Abnormal renal physiology	90411	MCFD2	ORPHA:35909
HP:0012211	Abnormal renal physiology	6786	STIM1	OMIM:185070
HP:0012211	Abnormal renal physiology	3673	ITGA2	ORPHA:853
HP:0012211	Abnormal renal physiology	135228	CD109	ORPHA:853
HP:0012211	Abnormal renal physiology	2658	GDF2	ORPHA:774
HP:0012211	Abnormal renal physiology	94	ACVRL1	ORPHA:774
HP:0012211	Abnormal renal physiology	4089	SMAD4	ORPHA:774
HP:0012211	Abnormal renal physiology	2022	ENG	ORPHA:774
HP:0012211	Abnormal renal physiology	5213	PFKM	OMIM:232800
HP:0012211	Abnormal renal physiology	5371	PML	ORPHA:520
HP:0012211	Abnormal renal physiology	5914	RARA	ORPHA:520
HP:0012211	Abnormal renal physiology	359948	IRF2BP2	ORPHA:520
HP:0012211	Abnormal renal physiology	81608	FIP1L1	ORPHA:520
HP:0012211	Abnormal renal physiology	4869	NPM1	ORPHA:520
HP:0012211	Abnormal renal physiology	5573	PRKAR1A	ORPHA:520
HP:0012211	Abnormal renal physiology	54880	BCOR	ORPHA:520
HP:0012211	Abnormal renal physiology	64859	NABP1	ORPHA:520
HP:0012211	Abnormal renal physiology	6777	STAT5B	ORPHA:520
HP:0012211	Abnormal renal physiology	4926	NUMA1	ORPHA:520
HP:0012211	Abnormal renal physiology	7704	ZBTB16	ORPHA:520
HP:0012211	Abnormal renal physiology	79718	TBL1XR1	ORPHA:520
HP:0012211	Abnormal renal physiology	2629	GBA1	ORPHA:77261
HP:0012211	Abnormal renal physiology	2629	GBA1	ORPHA:77259
HP:0012211	Abnormal renal physiology	10568	SLC34A2	ORPHA:60025
HP:0012211	Abnormal renal physiology	7372	UMPS	OMIM:258900
HP:0012211	Abnormal renal physiology	1777	DNASE2	OMIM:619858
HP:0012211	Abnormal renal physiology	712	C1QA	OMIM:613652
HP:0012211	Abnormal renal physiology	5238	PGM3	ORPHA:443811
HP:0012211	Abnormal renal physiology	5238	PGM3	OMIM:615816
HP:0012211	Abnormal renal physiology	779	CACNA1S	ORPHA:423
HP:0012211	Abnormal renal physiology	101101692	HELLPAR	ORPHA:244242
HP:0012211	Abnormal renal physiology	6948	TCN2	ORPHA:859
HP:0012211	Abnormal renal physiology	6773	STAT2	OMIM:618886
HP:0012211	Abnormal renal physiology	226	ALDOA	ORPHA:57
HP:0012211	Abnormal renal physiology	10861	SLC26A1	OMIM:167030
HP:0012211	Abnormal renal physiology	1374	CPT1A	ORPHA:156
HP:0012211	Abnormal renal physiology	1374	CPT1A	OMIM:255120
HP:0012211	Abnormal renal physiology	525	ATP6V1B1	OMIM:267300
HP:0012211	Abnormal renal physiology	57551	TAOK1	OMIM:619575
HP:0012211	Abnormal renal physiology	26235	FBXL4	OMIM:615471
HP:0012211	Abnormal renal physiology	133686	NADK2	ORPHA:431361
HP:0012211	Abnormal renal physiology	5257	PHKB	ORPHA:79240
HP:0012211	Abnormal renal physiology	4714	NDUFB8	ORPHA:70474
HP:0012211	Abnormal renal physiology	9997	SCO2	ORPHA:70474
HP:0012211	Abnormal renal physiology	26276	VPS33B	OMIM:208085
HP:0012211	Abnormal renal physiology	5256	PHKA2	ORPHA:264580
HP:0012211	Abnormal renal physiology	5261	PHKG2	ORPHA:264580
HP:0012211	Abnormal renal physiology	790	CAD	OMIM:616457
HP:0012211	Abnormal renal physiology	63894	VIPAS39	OMIM:613404
HP:0012211	Abnormal renal physiology	57724	EPG5	ORPHA:1493
HP:0012211	Abnormal renal physiology	6559	SLC12A3	ORPHA:358
HP:0012211	Abnormal renal physiology	760	CA2	ORPHA:2785
HP:0012211	Abnormal renal physiology	617	BCS1L	ORPHA:53693
HP:0012211	Abnormal renal physiology	84300	UQCC2	OMIM:615824
HP:0012211	Abnormal renal physiology	5091	PC	OMIM:266150
HP:0012211	Abnormal renal physiology	9663	LPIN2	ORPHA:77297
HP:0012211	Abnormal renal physiology	9722	NOS1AP	OMIM:619155
HP:0012211	Abnormal renal physiology	84823	LMNB2	ORPHA:79087
HP:0012211	Abnormal renal physiology	2147	F2	ORPHA:325
HP:0012211	Abnormal renal physiology	54585	LZTFL1	OMIM:615994
HP:0012211	Abnormal renal physiology	10847	SRCAP	ORPHA:2044
HP:0012211	Abnormal renal physiology	84520	GON7	OMIM:619603
HP:0012211	Abnormal renal physiology	79693	YRDC	OMIM:619609
HP:0012211	Abnormal renal physiology	3913	LAMB2	OMIM:609049
HP:0012211	Abnormal renal physiology	3913	LAMB2	OMIM:614199
HP:0012211	Abnormal renal physiology	25778	DSTYK	OMIM:610805
HP:0012211	Abnormal renal physiology	54806	AHI1	OMIM:608629
HP:0012211	Abnormal renal physiology	55644	OSGEP	OMIM:617729
HP:0012211	Abnormal renal physiology	10269	ZMPSTE24	OMIM:608612
HP:0012211	Abnormal renal physiology	112858	TP53RK	OMIM:617730
HP:0012211	Abnormal renal physiology	182	JAG1	OMIM:118450
HP:0012211	Abnormal renal physiology	10253	SPRY2	OMIM:616818
HP:0012211	Abnormal renal physiology	284086	NEK8	OMIM:613824
HP:0012211	Abnormal renal physiology	93649	MYOCD	OMIM:618719
HP:0012211	Abnormal renal physiology	63929	XPNPEP3	OMIM:613159
HP:0012211	Abnormal renal physiology	84662	GLIS2	OMIM:611498
HP:0012211	Abnormal renal physiology	64127	NOD2	ORPHA:90340
HP:0012211	Abnormal renal physiology	112752	IFT43	OMIM:614099
HP:0012211	Abnormal renal physiology	51134	CEP83	OMIM:615862
HP:0012211	Abnormal renal physiology	22909	FAN1	OMIM:614817
HP:0012211	Abnormal renal physiology	4582	MUC1	OMIM:174000
HP:0012211	Abnormal renal physiology	8671	SLC4A4	OMIM:604278
HP:0012211	Abnormal renal physiology	2591	GALNT3	OMIM:211900
HP:0012211	Abnormal renal physiology	4036	LRP2	OMIM:222448
HP:0012211	Abnormal renal physiology	57169	ZNFX1	OMIM:619644
HP:0012211	Abnormal renal physiology	4552	MTRR	ORPHA:2169
HP:0012211	Abnormal renal physiology	25974	MMACHC	ORPHA:79282
HP:0012211	Abnormal renal physiology	25974	MMACHC	OMIM:277400
HP:0012211	Abnormal renal physiology	8526	DGKE	OMIM:615008
HP:0012211	Abnormal renal physiology	11093	ADAMTS13	OMIM:274150
HP:0012211	Abnormal renal physiology	55858	TMEM165	OMIM:614727
HP:0012211	Abnormal renal physiology	4179	CD46	OMIM:612922
HP:0012211	Abnormal renal physiology	629	CFB	OMIM:612924
HP:0012211	Abnormal renal physiology	3426	CFI	OMIM:612923
HP:0012211	Abnormal renal physiology	9382	COG1	OMIM:611209
HP:0012211	Abnormal renal physiology	7056	THBD	OMIM:612926
HP:0012211	Abnormal renal physiology	3075	CFH	OMIM:235400
HP:0012211	Abnormal renal physiology	3078	CFHR1	OMIM:235400
HP:0012211	Abnormal renal physiology	10878	CFHR3	OMIM:235400
HP:0012211	Abnormal renal physiology	5052	PRDX1	OMIM:277400
HP:0012211	Abnormal renal physiology	718	C3	OMIM:612925
HP:0012211	Abnormal renal physiology	1188	CLCNKB	OMIM:607364
HP:0012211	Abnormal renal physiology	50617	ATP6V0A4	OMIM:602722
HP:0012211	Abnormal renal physiology	1314	COPA	OMIM:616414
HP:0012211	Abnormal renal physiology	7355	SLC35A2	ORPHA:356961
HP:0012211	Abnormal renal physiology	1758	DMP1	ORPHA:289176
HP:0012211	Abnormal renal physiology	5167	ENPP1	ORPHA:289176
HP:0012211	Abnormal renal physiology	5551	PRF1	ORPHA:540
HP:0012211	Abnormal renal physiology	8676	STX11	ORPHA:540
HP:0012211	Abnormal renal physiology	201294	UNC13D	ORPHA:540
HP:0012211	Abnormal renal physiology	6813	STXBP2	ORPHA:540
HP:0012211	Abnormal renal physiology	1019	CDK4	ORPHA:99971
HP:0012211	Abnormal renal physiology	8091	HMGA2	ORPHA:99971
HP:0012211	Abnormal renal physiology	7276	TTR	ORPHA:85447
HP:0012211	Abnormal renal physiology	6809	STX3	ORPHA:2290
HP:0012211	Abnormal renal physiology	4645	MYO5B	ORPHA:2290
HP:0012211	Abnormal renal physiology	112817	HOGA1	ORPHA:93600
HP:0012211	Abnormal renal physiology	1534	CYB561	OMIM:618182
HP:0012211	Abnormal renal physiology	2538	G6PC1	OMIM:232200
HP:0012211	Abnormal renal physiology	3081	HGD	OMIM:203500
HP:0012211	Abnormal renal physiology	846	CASR	OMIM:601198
HP:0012211	Abnormal renal physiology	4629	MYH11	OMIM:619351
HP:0012211	Abnormal renal physiology	7498	XDH	OMIM:278300
HP:0012211	Abnormal renal physiology	10516	FBLN5	ORPHA:90348
HP:0012211	Abnormal renal physiology	10516	FBLN5	ORPHA:90349
HP:0012211	Abnormal renal physiology	5832	ALDH18A1	ORPHA:90348
HP:0012211	Abnormal renal physiology	4052	LTBP1	ORPHA:90349
HP:0012211	Abnormal renal physiology	30008	EFEMP2	ORPHA:90349
HP:0012211	Abnormal renal physiology	3716	JAK1	OMIM:618999
HP:0012211	Abnormal renal physiology	8270	LAGE3	OMIM:301006
HP:0012211	Abnormal renal physiology	25959	KANK2	OMIM:617783
HP:0012211	Abnormal renal physiology	7535	ZAP70	OMIM:617006
HP:0012211	Abnormal renal physiology	975	CD81	OMIM:613496
HP:0012211	Abnormal renal physiology	2157	F8	ORPHA:169802
HP:0012211	Abnormal renal physiology	3674	ITGA2B	ORPHA:849
HP:0012211	Abnormal renal physiology	3690	ITGB3	ORPHA:849
HP:0012211	Abnormal renal physiology	2811	GP1BA	ORPHA:274
HP:0012211	Abnormal renal physiology	2812	GP1BB	ORPHA:274
HP:0012211	Abnormal renal physiology	2815	GP9	ORPHA:274
HP:0012211	Abnormal renal physiology	55243	KIRREL1	OMIM:619201
HP:0012211	Abnormal renal physiology	79934	COQ8B	OMIM:615573
HP:0012211	Abnormal renal physiology	23500	DAAM2	OMIM:619263
HP:0012211	Abnormal renal physiology	8879	SGPL1	OMIM:617575
HP:0012211	Abnormal renal physiology	23165	NUP205	OMIM:616893
HP:0012211	Abnormal renal physiology	54885	TBC1D8B	OMIM:301028
HP:0012211	Abnormal renal physiology	51004	COQ6	OMIM:614650
HP:0012211	Abnormal renal physiology	9688	NUP93	OMIM:616892
HP:0012211	Abnormal renal physiology	79902	NUP85	OMIM:618176
HP:0012211	Abnormal renal physiology	10677	AVIL	OMIM:618594
HP:0012211	Abnormal renal physiology	55746	NUP133	OMIM:618177
HP:0012211	Abnormal renal physiology	2013	EMP2	OMIM:615861
HP:0012211	Abnormal renal physiology	51002	TPRKB	OMIM:617731
HP:0012211	Abnormal renal physiology	3911	LAMA5	OMIM:620049
HP:0012211	Abnormal renal physiology	9863	MAGI2	OMIM:617609
HP:0012211	Abnormal renal physiology	2639	GCDH	ORPHA:25
HP:0012211	Abnormal renal physiology	7225	TRPC6	OMIM:603965
HP:0012211	Abnormal renal physiology	7225	TRPC6	ORPHA:656
HP:0012211	Abnormal renal physiology	25970	SH2B1	ORPHA:261222
HP:0012211	Abnormal renal physiology	5972	REN	OMIM:613092
HP:0012211	Abnormal renal physiology	29927	SEC61A1	OMIM:617056
HP:0012211	Abnormal renal physiology	2321	FLT1	ORPHA:275555
HP:0012211	Abnormal renal physiology	219736	STOX1	ORPHA:275555
HP:0012211	Abnormal renal physiology	10699	CORIN	ORPHA:275555
HP:0012211	Abnormal renal physiology	56606	SLC2A9	ORPHA:94088
HP:0012211	Abnormal renal physiology	116085	SLC22A12	ORPHA:94088
HP:0012211	Abnormal renal physiology	374879	ZNF699	OMIM:619488
HP:0012211	Abnormal renal physiology	396	ARHGDIA	OMIM:615244
HP:0012211	Abnormal renal physiology	396	ARHGDIA	ORPHA:656
HP:0012211	Abnormal renal physiology	8942	KYNU	OMIM:617661
HP:0012211	Abnormal renal physiology	6288	SAA1	ORPHA:85445
HP:0012211	Abnormal renal physiology	51473	DCDC2	ORPHA:84081
HP:0012211	Abnormal renal physiology	10686	CLDN16	OMIM:248250
HP:0012211	Abnormal renal physiology	4643	MYO1E	ORPHA:656
HP:0012211	Abnormal renal physiology	64423	INF2	ORPHA:656
HP:0012211	Abnormal renal physiology	26130	GAPVD1	ORPHA:656
HP:0012211	Abnormal renal physiology	57122	NUP107	ORPHA:656
HP:0012211	Abnormal renal physiology	51479	ANKFY1	ORPHA:656
HP:0012211	Abnormal renal physiology	54443	ANLN	ORPHA:656
HP:0012211	Abnormal renal physiology	5800	PTPRO	ORPHA:656
HP:0012211	Abnormal renal physiology	79023	NUP37	ORPHA:656
HP:0012211	Abnormal renal physiology	51196	PLCE1	ORPHA:656
HP:0012211	Abnormal renal physiology	81	ACTN4	ORPHA:656
HP:0012211	Abnormal renal physiology	8542	APOL1	ORPHA:656
HP:0012211	Abnormal renal physiology	7827	NPHS2	ORPHA:656
HP:0012211	Abnormal renal physiology	83478	ARHGAP24	ORPHA:656
HP:0012211	Abnormal renal physiology	137682	NDUFAF6	ORPHA:3337
HP:0012211	Abnormal renal physiology	3190	HNRNPK	OMIM:616580
HP:0012211	Abnormal renal physiology	5837	PYGM	ORPHA:368
HP:0012211	Abnormal renal physiology	83480	PUS3	ORPHA:488627
HP:0012211	Abnormal renal physiology	55764	IFT122	OMIM:218330
HP:0012211	Abnormal renal physiology	4914	NTRK1	ORPHA:642
HP:0012211	Abnormal renal physiology	149461	CLDN19	OMIM:248190
HP:0012211	Abnormal renal physiology	5498	PPOX	ORPHA:79473
HP:0012211	Abnormal renal physiology	54938	SARS2	OMIM:613845
HP:0012211	Abnormal renal physiology	26146	TRAF3IP1	ORPHA:3156
HP:0012211	Abnormal renal physiology	9657	IQCB1	ORPHA:3156
HP:0012211	Abnormal renal physiology	27130	INVS	ORPHA:3156
HP:0012211	Abnormal renal physiology	261734	NPHP4	ORPHA:3156
HP:0012211	Abnormal renal physiology	22897	CEP164	ORPHA:3156
HP:0012211	Abnormal renal physiology	567	B2M	ORPHA:314652
HP:0012211	Abnormal renal physiology	54	ACP5	ORPHA:1855
HP:0012211	Abnormal renal physiology	1288	COL4A6	ORPHA:1018
HP:0012211	Abnormal renal physiology	91461	PKDCC	OMIM:618821
HP:0012211	Abnormal renal physiology	1136	CHRNA3	OMIM:191800
HP:0012211	Abnormal renal physiology	23279	NUP160	OMIM:618178
HP:0012211	Abnormal renal physiology	6522	SLC4A2	OMIM:620366
HP:0012211	Abnormal renal physiology	5442	POLRMT	OMIM:619743
HP:0012211	Abnormal renal physiology	85358	SHANK3	ORPHA:48652
HP:0012211	Abnormal renal physiology	340533	NEXMIF	OMIM:300912
HP:0012211	Abnormal renal physiology	6521	SLC4A1	OMIM:179800
HP:0012211	Abnormal renal physiology	2212	FCGR2A	OMIM:152700
HP:0012211	Abnormal renal physiology	2213	FCGR2B	OMIM:152700
HP:0012211	Abnormal renal physiology	26191	PTPN22	OMIM:152700
HP:0012211	Abnormal renal physiology	11277	TREX1	OMIM:152700
HP:0012211	Abnormal renal physiology	1493	CTLA4	OMIM:152700
HP:0012211	Abnormal renal physiology	1773	DNASE1	OMIM:152700
HP:0012211	Abnormal renal physiology	1776	DNASE1L3	OMIM:614420
HP:0012211	Abnormal renal physiology	54805	CNNM2	OMIM:613882
HP:0012211	Abnormal renal physiology	183	AGT	OMIM:267430
HP:0012211	Abnormal renal physiology	185	AGTR1	OMIM:267430
HP:0012211	Abnormal renal physiology	1636	ACE	OMIM:267430
HP:0012211	Abnormal renal physiology	6261	RYR1	ORPHA:466650
HP:0012211	Abnormal renal physiology	788	SLC25A20	ORPHA:159
HP:0012211	Abnormal renal physiology	55249	YY1AP1	OMIM:602531
HP:0012211	Abnormal renal physiology	1281	COL3A1	ORPHA:286
HP:0012211	Abnormal renal physiology	6772	STAT1	ORPHA:391487
HP:0012211	Abnormal renal physiology	10043	TOM1	ORPHA:391487
HP:0012211	Abnormal renal physiology	9896	FIG4	ORPHA:3472
HP:0012211	Abnormal renal physiology	55697	VAC14	ORPHA:3472
HP:0012211	Abnormal renal physiology	64131	XYLT1	OMIM:264800
HP:0012211	Abnormal renal physiology	64132	XYLT2	OMIM:264800
HP:0012211	Abnormal renal physiology	368	ABCC6	OMIM:264800
HP:0012211	Abnormal renal physiology	4763	NF1	ORPHA:97685
HP:0012212	Abnormal glomerular filtration rate	1534	CYB561	OMIM:618182
HP:0012212	Abnormal glomerular filtration rate	51726	DNAJB11	OMIM:618061
HP:0012212	Abnormal glomerular filtration rate	51726	DNAJB11	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	23193	GANAB	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	5310	PKD1	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	5311	PKD2	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	29880	ALG5	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	9742	IFT140	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	79796	ALG9	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	80114	BICC1	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	9056	SLC7A7	ORPHA:470
HP:0012212	Abnormal glomerular filtration rate	7369	UMOD	OMIM:162000
HP:0012212	Abnormal glomerular filtration rate	1187	CLCNKA	OMIM:613090
HP:0012212	Abnormal glomerular filtration rate	1188	CLCNKB	OMIM:613090
HP:0012212	Abnormal glomerular filtration rate	5076	PAX2	ORPHA:97362
HP:0012212	Abnormal glomerular filtration rate	5087	PBX1	ORPHA:97362
HP:0012212	Abnormal glomerular filtration rate	2538	G6PC1	OMIM:232200
HP:0012212	Abnormal glomerular filtration rate	3081	HGD	OMIM:203500
HP:0012212	Abnormal glomerular filtration rate	56606	SLC2A9	ORPHA:94088
HP:0012212	Abnormal glomerular filtration rate	116085	SLC22A12	ORPHA:94088
HP:0012212	Abnormal glomerular filtration rate	3675	ITGA3	OMIM:614748
HP:0012212	Abnormal glomerular filtration rate	2542	SLC37A4	OMIM:232220
HP:0012212	Abnormal glomerular filtration rate	2542	SLC37A4	OMIM:232240
HP:0012212	Abnormal glomerular filtration rate	83480	PUS3	ORPHA:488627
HP:0012212	Abnormal glomerular filtration rate	189	AGXT	ORPHA:93598
HP:0012212	Abnormal glomerular filtration rate	846	CASR	OMIM:601198
HP:0012212	Abnormal glomerular filtration rate	7809	BSND	OMIM:602522
HP:0012212	Abnormal glomerular filtration rate	6569	SLC34A1	OMIM:613388
HP:0012212	Abnormal glomerular filtration rate	4582	MUC1	OMIM:174000
HP:0012213	Decreased glomerular filtration rate	1534	CYB561	OMIM:618182
HP:0012213	Decreased glomerular filtration rate	51726	DNAJB11	OMIM:618061
HP:0012213	Decreased glomerular filtration rate	51726	DNAJB11	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	23193	GANAB	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	5310	PKD1	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	5311	PKD2	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	29880	ALG5	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	9742	IFT140	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	79796	ALG9	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	80114	BICC1	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	9056	SLC7A7	ORPHA:470
HP:0012213	Decreased glomerular filtration rate	7369	UMOD	OMIM:162000
HP:0012213	Decreased glomerular filtration rate	1187	CLCNKA	OMIM:613090
HP:0012213	Decreased glomerular filtration rate	1188	CLCNKB	OMIM:613090
HP:0012213	Decreased glomerular filtration rate	5076	PAX2	ORPHA:97362
HP:0012213	Decreased glomerular filtration rate	5087	PBX1	ORPHA:97362
HP:0012213	Decreased glomerular filtration rate	2538	G6PC1	OMIM:232200
HP:0012213	Decreased glomerular filtration rate	3081	HGD	OMIM:203500
HP:0012213	Decreased glomerular filtration rate	56606	SLC2A9	ORPHA:94088
HP:0012213	Decreased glomerular filtration rate	116085	SLC22A12	ORPHA:94088
HP:0012213	Decreased glomerular filtration rate	3675	ITGA3	OMIM:614748
HP:0012213	Decreased glomerular filtration rate	2542	SLC37A4	OMIM:232220
HP:0012213	Decreased glomerular filtration rate	2542	SLC37A4	OMIM:232240
HP:0012213	Decreased glomerular filtration rate	83480	PUS3	ORPHA:488627
HP:0012213	Decreased glomerular filtration rate	189	AGXT	ORPHA:93598
HP:0012213	Decreased glomerular filtration rate	846	CASR	OMIM:601198
HP:0012213	Decreased glomerular filtration rate	7809	BSND	OMIM:602522
HP:0012213	Decreased glomerular filtration rate	6569	SLC34A1	OMIM:613388
HP:0012213	Decreased glomerular filtration rate	4582	MUC1	OMIM:174000
HP:0012215	Testicular microlithiasis	10568	SLC34A2	ORPHA:60025
HP:0012215	Testicular microlithiasis	3972	LHB	OMIM:228300
HP:0012217	Increased urinary porphobilinogen	5498	PPOX	OMIM:176200
HP:0012217	Increased urinary porphobilinogen	5498	PPOX	ORPHA:79473
HP:0012217	Increased urinary porphobilinogen	3077	HFE	OMIM:176200
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	ORPHA:79273
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	OMIM:121300
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	OMIM:618892
HP:0012217	Increased urinary porphobilinogen	210	ALAD	ORPHA:100924
HP:0012217	Increased urinary porphobilinogen	3145	HMBS	ORPHA:79276
HP:0012217	Increased urinary porphobilinogen	7390	UROS	ORPHA:79277
HP:0012217	Increased urinary porphobilinogen	2623	GATA1	ORPHA:79277
HP:0012218	Alveolar soft part sarcoma	79058	ASPSCR1	OMIM:606243
HP:0012219	Erythema nodosum	64127	NOD2	OMIM:186580
HP:0012219	Erythema nodosum	64127	NOD2	ORPHA:90340
HP:0012219	Erythema nodosum	3930	LBR	OMIM:613471
HP:0012219	Erythema nodosum	331	XIAP	OMIM:300635
HP:0012219	Erythema nodosum	5295	PIK3R1	OMIM:615214
HP:0012219	Erythema nodosum	51816	ADA2	OMIM:615688
HP:0012219	Erythema nodosum	56244	BTNL2	OMIM:612387
HP:0012219	Erythema nodosum	56244	BTNL2	ORPHA:797
HP:0012219	Erythema nodosum	91662	NLRP12	OMIM:611762
HP:0012219	Erythema nodosum	987	LRBA	OMIM:614700
HP:0012219	Erythema nodosum	5696	PSMB8	OMIM:256040
HP:0012219	Erythema nodosum	3123	HLA-DRB1	ORPHA:797
HP:0001263	Global developmental delay	1718	DHCR24	OMIM:602398
HP:0001263	Global developmental delay	4524	MTHFR	ORPHA:395
HP:0001263	Global developmental delay	4524	MTHFR	OMIM:236250
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:614381
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:607694
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:619742
HP:0001263	Global developmental delay	51256	TBC1D7	OMIM:248000
HP:0001263	Global developmental delay	51399	TRAPPC4	OMIM:618741
HP:0001263	Global developmental delay	1139	CHRNA7	ORPHA:199318
HP:0001263	Global developmental delay	8216	LZTR1	OMIM:616564
HP:0001263	Global developmental delay	8216	LZTR1	OMIM:605275
HP:0001263	Global developmental delay	10059	DNM1L	OMIM:614388
HP:0001263	Global developmental delay	10059	DNM1L	ORPHA:330050
HP:0001263	Global developmental delay	10059	DNM1L	ORPHA:98673
HP:0001263	Global developmental delay	7021	TFAP2B	OMIM:169100
HP:0001263	Global developmental delay	7021	TFAP2B	ORPHA:46627
HP:0001263	Global developmental delay	2261	FGFR3	ORPHA:53271
HP:0001263	Global developmental delay	2261	FGFR3	ORPHA:2363
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:616482
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:187600
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:602849
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:610474
HP:0001263	Global developmental delay	2317	FLNB	ORPHA:56305
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:477817
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:819
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:1713
HP:0001263	Global developmental delay	10743	RAI1	OMIM:182290
HP:0001263	Global developmental delay	2073	ERCC5	OMIM:616570
HP:0001263	Global developmental delay	2073	ERCC5	ORPHA:220295
HP:0001263	Global developmental delay	2073	ERCC5	OMIM:278780
HP:0001263	Global developmental delay	6729	SRP54	OMIM:618752
HP:0001263	Global developmental delay	6729	SRP54	OMIM:260400
HP:0001263	Global developmental delay	283489	CHAMP1	OMIM:616579
HP:0001263	Global developmental delay	23322	RPGRIP1L	ORPHA:220497
HP:0001263	Global developmental delay	23322	RPGRIP1L	OMIM:619113
HP:0001263	Global developmental delay	23322	RPGRIP1L	OMIM:611560
HP:0001263	Global developmental delay	4867	NPHP1	ORPHA:220497
HP:0001263	Global developmental delay	4867	NPHP1	ORPHA:3156
HP:0001263	Global developmental delay	4867	NPHP1	OMIM:609583
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:220497
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:2318
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:475
HP:0001263	Global developmental delay	65062	TMEM237	OMIM:614424
HP:0001263	Global developmental delay	477	ATP1A2	OMIM:619605
HP:0001263	Global developmental delay	477	ATP1A2	ORPHA:442835
HP:0001263	Global developmental delay	27245	AHDC1	ORPHA:412069
HP:0001263	Global developmental delay	27245	AHDC1	OMIM:615829
HP:0001263	Global developmental delay	478	ATP1A3	OMIM:619606
HP:0001263	Global developmental delay	478	ATP1A3	ORPHA:442835
HP:0001263	Global developmental delay	478	ATP1A3	OMIM:614820
HP:0001263	Global developmental delay	166378	AFG2A	OMIM:616577
HP:0001263	Global developmental delay	54806	AHI1	ORPHA:220493
HP:0001263	Global developmental delay	54806	AHI1	ORPHA:475
HP:0001263	Global developmental delay	56623	INPP5E	ORPHA:220493
HP:0001263	Global developmental delay	56623	INPP5E	OMIM:213300
HP:0001263	Global developmental delay	56623	INPP5E	ORPHA:475
HP:0001263	Global developmental delay	153241	CEP120	ORPHA:220493
HP:0001263	Global developmental delay	153241	CEP120	OMIM:617761
HP:0001263	Global developmental delay	153241	CEP120	ORPHA:475
HP:0001263	Global developmental delay	54903	MKS1	ORPHA:220493
HP:0001263	Global developmental delay	54903	MKS1	OMIM:615990
HP:0001263	Global developmental delay	54903	MKS1	ORPHA:475
HP:0001263	Global developmental delay	54903	MKS1	OMIM:617121
HP:0001263	Global developmental delay	54903	MKS1	OMIM:249000
HP:0001263	Global developmental delay	95681	CEP41	ORPHA:220493
HP:0001263	Global developmental delay	95681	CEP41	ORPHA:475
HP:0001263	Global developmental delay	95681	CEP41	OMIM:614464
HP:0001263	Global developmental delay	84197	POMK	OMIM:615249
HP:0001263	Global developmental delay	84197	POMK	ORPHA:370959
HP:0001263	Global developmental delay	84197	POMK	ORPHA:899
HP:0001263	Global developmental delay	84520	GON7	OMIM:619603
HP:0001263	Global developmental delay	55768	NGLY1	ORPHA:404454
HP:0001263	Global developmental delay	55768	NGLY1	OMIM:615273
HP:0001263	Global developmental delay	1161	ERCC8	OMIM:216400
HP:0001263	Global developmental delay	79158	GNPTAB	OMIM:252500
HP:0001263	Global developmental delay	57589	RIC1	OMIM:618761
HP:0001263	Global developmental delay	3190	HNRNPK	OMIM:616580
HP:0001263	Global developmental delay	317662	FAM149B1	OMIM:618763
HP:0001263	Global developmental delay	317662	FAM149B1	ORPHA:2754
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:616586
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:90348
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:35664
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:447760
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:219150
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:616603
HP:0001263	Global developmental delay	6884	TAF13	OMIM:617432
HP:0001263	Global developmental delay	6884	TAF13	ORPHA:2512
HP:0001263	Global developmental delay	2671	GFER	OMIM:613076
HP:0001263	Global developmental delay	2671	GFER	ORPHA:330054
HP:0001263	Global developmental delay	6844	VAMP2	OMIM:618760
HP:0001263	Global developmental delay	79029	AFG2B	OMIM:619616
HP:0001263	Global developmental delay	79029	AFG2B	OMIM:619615
HP:0001263	Global developmental delay	54880	BCOR	ORPHA:2712
HP:0001263	Global developmental delay	3064	HTT	OMIM:617435
HP:0001263	Global developmental delay	7436	VLDLR	OMIM:224050
HP:0001263	Global developmental delay	55681	SCYL2	OMIM:618766
HP:0001263	Global developmental delay	51109	RDH11	OMIM:616108
HP:0001263	Global developmental delay	51109	RDH11	ORPHA:436245
HP:0001263	Global developmental delay	4508	MT-ATP6	OMIM:551500
HP:0001263	Global developmental delay	4508	MT-ATP6	ORPHA:644
HP:0001263	Global developmental delay	790955	UQCC3	OMIM:616111
HP:0001263	Global developmental delay	5813	PURA	ORPHA:438216
HP:0001263	Global developmental delay	5813	PURA	OMIM:616158
HP:0001263	Global developmental delay	3340	NDST1	OMIM:616116
HP:0001263	Global developmental delay	5376	PMP22	ORPHA:90658
HP:0001263	Global developmental delay	89910	UBE3B	ORPHA:2707
HP:0001263	Global developmental delay	6602	SMARCD1	OMIM:618779
HP:0001263	Global developmental delay	54	ACP5	ORPHA:1855
HP:0001263	Global developmental delay	54	ACP5	OMIM:607944
HP:0001263	Global developmental delay	5373	PMM2	OMIM:212065
HP:0001263	Global developmental delay	5373	PMM2	ORPHA:79318
HP:0001263	Global developmental delay	63901	FAM111A	OMIM:602361
HP:0001263	Global developmental delay	2316	FLNA	ORPHA:90652
HP:0001263	Global developmental delay	673	BRAF	ORPHA:54595
HP:0001263	Global developmental delay	673	BRAF	ORPHA:500
HP:0001263	Global developmental delay	673	BRAF	ORPHA:1340
HP:0001263	Global developmental delay	54345	SOX18	OMIM:137940
HP:0001263	Global developmental delay	2746	GLUD1	ORPHA:35878
HP:0001263	Global developmental delay	8398	PLA2G6	ORPHA:199351
HP:0001263	Global developmental delay	8398	PLA2G6	OMIM:256600
HP:0001263	Global developmental delay	8493	PPM1D	OMIM:617450
HP:0001263	Global developmental delay	5034	P4HB	OMIM:112240
HP:0001263	Global developmental delay	5034	P4HB	ORPHA:2050
HP:0001263	Global developmental delay	55621	TRMT1	OMIM:618302
HP:0001263	Global developmental delay	23512	SUZ12	OMIM:618786
HP:0001263	Global developmental delay	23512	SUZ12	ORPHA:3447
HP:0001263	Global developmental delay	51633	OTUD6B	OMIM:617452
HP:0001263	Global developmental delay	51633	OTUD6B	ORPHA:505237
HP:0001263	Global developmental delay	55280	CWF19L1	OMIM:616127
HP:0001263	Global developmental delay	55280	CWF19L1	ORPHA:453521
HP:0001263	Global developmental delay	3845	KRAS	OMIM:615278
HP:0001263	Global developmental delay	3845	KRAS	ORPHA:2396
HP:0001263	Global developmental delay	3845	KRAS	OMIM:600268
HP:0001263	Global developmental delay	3845	KRAS	ORPHA:1340
HP:0001263	Global developmental delay	3845	KRAS	OMIM:609942
HP:0001263	Global developmental delay	5604	MAP2K1	OMIM:615279
HP:0001263	Global developmental delay	5604	MAP2K1	ORPHA:1340
HP:0001263	Global developmental delay	2517	FUCA1	ORPHA:349
HP:0001263	Global developmental delay	2517	FUCA1	OMIM:230000
HP:0001263	Global developmental delay	9289	ADGRG1	ORPHA:101070
HP:0001263	Global developmental delay	9289	ADGRG1	OMIM:606854
HP:0001263	Global developmental delay	9289	ADGRG1	ORPHA:98889
HP:0001263	Global developmental delay	5728	PTEN	ORPHA:101070
HP:0001263	Global developmental delay	5728	PTEN	OMIM:605309
HP:0001263	Global developmental delay	5728	PTEN	ORPHA:201
HP:0001263	Global developmental delay	5728	PTEN	OMIM:158350
HP:0001263	Global developmental delay	4598	MVK	ORPHA:343
HP:0001263	Global developmental delay	4598	MVK	ORPHA:29
HP:0001263	Global developmental delay	4598	MVK	OMIM:610377
HP:0001263	Global developmental delay	5727	PTCH1	OMIM:610828
HP:0001263	Global developmental delay	5727	PTCH1	ORPHA:77301
HP:0001263	Global developmental delay	2736	GLI2	OMIM:610829
HP:0001263	Global developmental delay	2736	GLI2	OMIM:615849
HP:0001263	Global developmental delay	79718	TBL1XR1	OMIM:602342
HP:0001263	Global developmental delay	79718	TBL1XR1	OMIM:616944
HP:0001263	Global developmental delay	3766	KCNJ10	ORPHA:199343
HP:0001263	Global developmental delay	3766	KCNJ10	OMIM:612780
HP:0001263	Global developmental delay	5605	MAP2K2	OMIM:615280
HP:0001263	Global developmental delay	5605	MAP2K2	ORPHA:1340
HP:0001263	Global developmental delay	54828	BCAS3	OMIM:619641
HP:0001263	Global developmental delay	3800	KIF5C	OMIM:615282
HP:0001263	Global developmental delay	57169	ZNFX1	OMIM:619644
HP:0001263	Global developmental delay	11041	B4GAT1	OMIM:615287
HP:0001263	Global developmental delay	11041	B4GAT1	ORPHA:899
HP:0001263	Global developmental delay	2232	FDXR	ORPHA:543470
HP:0001263	Global developmental delay	11311	VPS45	OMIM:615285
HP:0001263	Global developmental delay	50485	SMARCAL1	ORPHA:1830
HP:0001263	Global developmental delay	50485	SMARCAL1	OMIM:242900
HP:0001263	Global developmental delay	2904	GRIN2B	OMIM:616139
HP:0001263	Global developmental delay	2904	GRIN2B	OMIM:613970
HP:0001263	Global developmental delay	2263	FGFR2	OMIM:123790
HP:0001263	Global developmental delay	2263	FGFR2	ORPHA:93259
HP:0001263	Global developmental delay	2263	FGFR2	ORPHA:2363
HP:0001263	Global developmental delay	476	ATP1A1	OMIM:618314
HP:0001263	Global developmental delay	476	ATP1A1	ORPHA:564178
HP:0001263	Global developmental delay	200424	TET3	OMIM:618798
HP:0001263	Global developmental delay	9772	TMEM94	OMIM:618316
HP:0001263	Global developmental delay	6901	TAFAZZIN	OMIM:302060
HP:0001263	Global developmental delay	10667	FARS2	ORPHA:466722
HP:0001263	Global developmental delay	57609	DIP2B	OMIM:136630
HP:0001263	Global developmental delay	775	CACNA1C	OMIM:601005
HP:0001263	Global developmental delay	775	CACNA1C	OMIM:620029
HP:0001263	Global developmental delay	2239	GPC4	ORPHA:373
HP:0001263	Global developmental delay	2719	GPC3	ORPHA:373
HP:0001263	Global developmental delay	4000	LMNA	ORPHA:157973
HP:0001263	Global developmental delay	55739	NAXD	OMIM:618321
HP:0001263	Global developmental delay	7143	TNR	OMIM:619653
HP:0001263	Global developmental delay	5917	RARS1	OMIM:616140
HP:0001263	Global developmental delay	5917	RARS1	ORPHA:438114
HP:0001263	Global developmental delay	197258	FCSK	OMIM:618324
HP:0001263	Global developmental delay	23483	TGDS	OMIM:616145
HP:0001263	Global developmental delay	6603	SMARCD2	OMIM:617475
HP:0001263	Global developmental delay	111	ADCY5	OMIM:619651
HP:0001263	Global developmental delay	125988	MICOS13	OMIM:618329
HP:0001263	Global developmental delay	23499	MACF1	OMIM:618325
HP:0001263	Global developmental delay	4087	SMAD2	OMIM:619657
HP:0001263	Global developmental delay	57688	ZSWIM6	ORPHA:1827
HP:0001263	Global developmental delay	57688	ZSWIM6	OMIM:617865
HP:0001263	Global developmental delay	84100	ARL6	OMIM:600151
HP:0001263	Global developmental delay	84100	ARL6	OMIM:209900
HP:0001263	Global developmental delay	1523	CUX1	OMIM:618330
HP:0001263	Global developmental delay	84188	FAR1	OMIM:616154
HP:0001263	Global developmental delay	84188	FAR1	ORPHA:438178
HP:0001263	Global developmental delay	120	ADD3	OMIM:617008
HP:0001263	Global developmental delay	2744	GLS	OMIM:618339
HP:0001263	Global developmental delay	2744	GLS	OMIM:618412
HP:0001263	Global developmental delay	58	ACTA1	ORPHA:97240
HP:0001263	Global developmental delay	58	ACTA1	ORPHA:97244
HP:0001263	Global developmental delay	4921	DDR2	OMIM:271665
HP:0001263	Global developmental delay	57526	PCDH19	ORPHA:101039
HP:0001263	Global developmental delay	57526	PCDH19	OMIM:300088
HP:0001263	Global developmental delay	57190	SELENON	ORPHA:97244
HP:0001263	Global developmental delay	7915	ALDH5A1	ORPHA:22
HP:0001263	Global developmental delay	7915	ALDH5A1	OMIM:271980
HP:0001263	Global developmental delay	6448	SGSH	OMIM:252900
HP:0001263	Global developmental delay	8925	HERC1	OMIM:617011
HP:0001263	Global developmental delay	8925	HERC1	ORPHA:457359
HP:0001263	Global developmental delay	2775	GNAO1	OMIM:617493
HP:0001263	Global developmental delay	2775	GNAO1	ORPHA:1934
HP:0001263	Global developmental delay	2775	GNAO1	OMIM:615473
HP:0001263	Global developmental delay	23516	SLC39A14	OMIM:617013
HP:0001263	Global developmental delay	23516	SLC39A14	ORPHA:521406
HP:0001263	Global developmental delay	54517	PUS7	OMIM:618342
HP:0001263	Global developmental delay	10564	ARFGEF2	OMIM:608097
HP:0001263	Global developmental delay	8573	CASK	OMIM:300749
HP:0001263	Global developmental delay	8573	CASK	ORPHA:1934
HP:0001263	Global developmental delay	8573	CASK	OMIM:300422
HP:0001263	Global developmental delay	10785	WDR4	OMIM:618347
HP:0001263	Global developmental delay	10785	WDR4	ORPHA:2065
HP:0001263	Global developmental delay	1798	DPAGT1	OMIM:608093
HP:0001263	Global developmental delay	57122	NUP107	OMIM:618348
HP:0001263	Global developmental delay	57122	NUP107	ORPHA:2065
HP:0001263	Global developmental delay	57122	NUP107	OMIM:616730
HP:0001263	Global developmental delay	55746	NUP133	OMIM:618349
HP:0001263	Global developmental delay	55746	NUP133	ORPHA:2065
HP:0001263	Global developmental delay	51259	TMEM216	OMIM:608091
HP:0001263	Global developmental delay	51259	TMEM216	ORPHA:2318
HP:0001263	Global developmental delay	51259	TMEM216	ORPHA:2754
HP:0001263	Global developmental delay	959	CD40LG	OMIM:308230
HP:0001263	Global developmental delay	7681	MKRN3	OMIM:176270
HP:0001263	Global developmental delay	3653	IPW	OMIM:176270
HP:0001263	Global developmental delay	54551	MAGEL2	OMIM:176270
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177904
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177901
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177910
HP:0001263	Global developmental delay	54551	MAGEL2	OMIM:615547
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:98754
HP:0001263	Global developmental delay	791114	PWRN1	OMIM:176270
HP:0001263	Global developmental delay	100033413	SNORD116-1	OMIM:176270
HP:0001263	Global developmental delay	8924	HERC2	OMIM:176270
HP:0001263	Global developmental delay	8924	HERC2	OMIM:615516
HP:0001263	Global developmental delay	145624	PWAR1	OMIM:176270
HP:0001263	Global developmental delay	23742	NPAP1	OMIM:176270
HP:0001263	Global developmental delay	338433	SNORD115-1	OMIM:176270
HP:0001263	Global developmental delay	1950	EGF	OMIM:611718
HP:0001263	Global developmental delay	5095	PCCA	ORPHA:35
HP:0001263	Global developmental delay	5095	PCCA	OMIM:606054
HP:0001263	Global developmental delay	5096	PCCB	ORPHA:35
HP:0001263	Global developmental delay	5096	PCCB	OMIM:606054
HP:0001263	Global developmental delay	56945	MRPS22	OMIM:611719
HP:0001263	Global developmental delay	27125	AFF4	ORPHA:444077
HP:0001263	Global developmental delay	27125	AFF4	OMIM:616368
HP:0001263	Global developmental delay	6888	TALDO1	ORPHA:101028
HP:0001263	Global developmental delay	5575	PRKAR1B	OMIM:619680
HP:0001263	Global developmental delay	7372	UMPS	ORPHA:30
HP:0001263	Global developmental delay	7372	UMPS	OMIM:258900
HP:0001263	Global developmental delay	4967	OGDH	ORPHA:31
HP:0001263	Global developmental delay	2972	BRF1	ORPHA:444072
HP:0001263	Global developmental delay	2972	BRF1	OMIM:616202
HP:0001263	Global developmental delay	3712	IVD	ORPHA:33
HP:0001263	Global developmental delay	3712	IVD	OMIM:243500
HP:0001263	Global developmental delay	5515	PPP2CA	OMIM:618354
HP:0001263	Global developmental delay	11277	TREX1	OMIM:225750
HP:0001263	Global developmental delay	11277	TREX1	ORPHA:51
HP:0001263	Global developmental delay	23114	NFASC	OMIM:618356
HP:0001263	Global developmental delay	5610	EIF2AK2	OMIM:619687
HP:0001263	Global developmental delay	6096	RORB	OMIM:618357
HP:0001263	Global developmental delay	112755	STX1B	OMIM:616172
HP:0001263	Global developmental delay	116461	TSEN15	OMIM:617026
HP:0001263	Global developmental delay	55262	TRAPPC14	OMIM:618351
HP:0001263	Global developmental delay	55262	TRAPPC14	ORPHA:2512
HP:0001263	Global developmental delay	6492	SIM1	ORPHA:171829
HP:0001263	Global developmental delay	6492	SIM1	ORPHA:369873
HP:0001263	Global developmental delay	6774	STAT3	ORPHA:99885
HP:0001263	Global developmental delay	2645	GCK	ORPHA:99885
HP:0001263	Global developmental delay	3651	PDX1	ORPHA:99885
HP:0001263	Global developmental delay	3630	INS	ORPHA:99885
HP:0001263	Global developmental delay	4204	MECP2	ORPHA:778
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300055
HP:0001263	Global developmental delay	4204	MECP2	ORPHA:1762
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300673
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300260
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:370968
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:370959
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:363623
HP:0001263	Global developmental delay	29925	GMPPB	OMIM:615350
HP:0001263	Global developmental delay	29925	GMPPB	OMIM:615351
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:370968
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:370959
HP:0001263	Global developmental delay	79147	FKRP	OMIM:236670
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:899
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:370968
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:370959
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:206559
HP:0001263	Global developmental delay	29954	POMT2	OMIM:236670
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:899
HP:0001263	Global developmental delay	9215	LARGE1	ORPHA:370968
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:608840
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:236670
HP:0001263	Global developmental delay	9215	LARGE1	ORPHA:899
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:613154
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:370968
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:370959
HP:0001263	Global developmental delay	10585	POMT1	OMIM:236670
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:899
HP:0001263	Global developmental delay	10585	POMT1	OMIM:613155
HP:0001263	Global developmental delay	427	ASAH1	ORPHA:333
HP:0001263	Global developmental delay	79709	COLGALT1	OMIM:618360
HP:0001263	Global developmental delay	16	AARS1	OMIM:619691
HP:0001263	Global developmental delay	16	AARS1	ORPHA:442835
HP:0001263	Global developmental delay	16	AARS1	OMIM:616339
HP:0001263	Global developmental delay	473	RERE	ORPHA:494344
HP:0001263	Global developmental delay	473	RERE	OMIM:616975
HP:0001263	Global developmental delay	473	RERE	ORPHA:1606
HP:0001263	Global developmental delay	55777	MBD5	OMIM:156200
HP:0001263	Global developmental delay	347733	TUBB2B	ORPHA:467166
HP:0001263	Global developmental delay	347733	TUBB2B	ORPHA:300573
HP:0001263	Global developmental delay	347733	TUBB2B	OMIM:610031
HP:0001263	Global developmental delay	7846	TUBA1A	ORPHA:467166
HP:0001263	Global developmental delay	7846	TUBA1A	OMIM:611603
HP:0001263	Global developmental delay	7846	TUBA1A	ORPHA:171680
HP:0001263	Global developmental delay	10381	TUBB3	ORPHA:467166
HP:0001263	Global developmental delay	10381	TUBB3	OMIM:600638
HP:0001263	Global developmental delay	10381	TUBB3	OMIM:614039
HP:0001263	Global developmental delay	10381	TUBB3	ORPHA:300570
HP:0001263	Global developmental delay	10588	MTHFS	OMIM:618367
HP:0001263	Global developmental delay	51434	ANAPC7	OMIM:619699
HP:0001263	Global developmental delay	4141	MARS1	OMIM:619692
HP:0001263	Global developmental delay	4141	MARS1	ORPHA:401835
HP:0001263	Global developmental delay	24140	FTSJ1	OMIM:309549
HP:0001263	Global developmental delay	6601	SMARCC2	OMIM:618362
HP:0001263	Global developmental delay	92255	LMBRD2	OMIM:619694
HP:0001263	Global developmental delay	84068	SLC10A7	OMIM:618363
HP:0001263	Global developmental delay	7468	NSD2	OMIM:619695
HP:0001263	Global developmental delay	7468	NSD2	OMIM:194190
HP:0001263	Global developmental delay	7468	NSD2	ORPHA:280
HP:0001263	Global developmental delay	3054	HCFC1	OMIM:309541
HP:0001263	Global developmental delay	201163	FLCN	OMIM:610883
HP:0001263	Global developmental delay	819	CAMLG	OMIM:620201
HP:0001263	Global developmental delay	51608	GET4	OMIM:620200
HP:0001263	Global developmental delay	5805	PTS	ORPHA:13
HP:0001263	Global developmental delay	5805	PTS	OMIM:261640
HP:0001263	Global developmental delay	7703	PCGF2	OMIM:618371
HP:0001263	Global developmental delay	56776	FMN2	OMIM:616193
HP:0001263	Global developmental delay	23111	SPART	ORPHA:101000
HP:0001263	Global developmental delay	23111	SPART	OMIM:275900
HP:0001263	Global developmental delay	51324	SPG21	ORPHA:101001
HP:0001263	Global developmental delay	7086	TKT	OMIM:617044
HP:0001263	Global developmental delay	7086	TKT	ORPHA:488618
HP:0001263	Global developmental delay	63931	MRPS14	OMIM:618378
HP:0001263	Global developmental delay	8802	SUCLG1	ORPHA:17
HP:0001263	Global developmental delay	8802	SUCLG1	OMIM:245400
HP:0001263	Global developmental delay	4761	NEUROD2	OMIM:618374
HP:0001263	Global developmental delay	4761	NEUROD2	ORPHA:1934
HP:0001263	Global developmental delay	84705	GTPBP3	OMIM:616198
HP:0001263	Global developmental delay	84705	GTPBP3	ORPHA:444013
HP:0001263	Global developmental delay	51729	WBP11	OMIM:619227
HP:0001263	Global developmental delay	6304	SATB1	OMIM:619228
HP:0001263	Global developmental delay	6304	SATB1	OMIM:619229
HP:0001263	Global developmental delay	8883	NAE1	OMIM:620210
HP:0001263	Global developmental delay	55186	SLC25A36	OMIM:620211
HP:0001263	Global developmental delay	50801	KCNK4	OMIM:618381
HP:0001263	Global developmental delay	83480	PUS3	OMIM:617051
HP:0001263	Global developmental delay	83480	PUS3	ORPHA:488627
HP:0001263	Global developmental delay	65260	COA7	OMIM:618387
HP:0001263	Global developmental delay	54809	SAMD9	OMIM:617053
HP:0001263	Global developmental delay	134218	DNAJC21	OMIM:617052
HP:0001263	Global developmental delay	134218	DNAJC21	OMIM:260400
HP:0001263	Global developmental delay	27107	ZBTB11	OMIM:618383
HP:0001263	Global developmental delay	435	ASL	OMIM:207900
HP:0001263	Global developmental delay	80036	TRPM3	OMIM:620224
HP:0001263	Global developmental delay	10283	CWC27	ORPHA:166035
HP:0001263	Global developmental delay	10283	CWC27	OMIM:250410
HP:0001263	Global developmental delay	55624	POMGNT1	ORPHA:370959
HP:0001263	Global developmental delay	55624	POMGNT1	OMIM:253280
HP:0001263	Global developmental delay	55624	POMGNT1	ORPHA:899
HP:0001263	Global developmental delay	51360	MBTPS2	OMIM:308205
HP:0001263	Global developmental delay	51360	MBTPS2	ORPHA:85284
HP:0001263	Global developmental delay	1457	CSNK2A1	OMIM:617062
HP:0001263	Global developmental delay	158326	FREM1	OMIM:248450
HP:0001263	Global developmental delay	158326	FREM1	OMIM:614485
HP:0001263	Global developmental delay	8318	CDC45	OMIM:617063
HP:0001263	Global developmental delay	8318	CDC45	ORPHA:2554
HP:0001263	Global developmental delay	9326	ZNHIT3	OMIM:260565
HP:0001263	Global developmental delay	9326	ZNHIT3	ORPHA:2836
HP:0001263	Global developmental delay	55640	FLVCR2	OMIM:225790
HP:0001263	Global developmental delay	23112	TNRC6B	OMIM:619243
HP:0001263	Global developmental delay	84340	GFM2	OMIM:618397
HP:0001263	Global developmental delay	5625	PRODH	OMIM:239500
HP:0001263	Global developmental delay	93587	TRMT10A	ORPHA:391408
HP:0001263	Global developmental delay	93587	TRMT10A	OMIM:616033
HP:0001263	Global developmental delay	84919	PPP1R15B	ORPHA:391408
HP:0001263	Global developmental delay	2799	GNS	OMIM:252940
HP:0001263	Global developmental delay	10551	AGR2	OMIM:620233
HP:0001263	Global developmental delay	55670	PEX26	ORPHA:772
HP:0001263	Global developmental delay	55670	PEX26	OMIM:614873
HP:0001263	Global developmental delay	5824	PEX19	ORPHA:772
HP:0001263	Global developmental delay	5824	PEX19	OMIM:614886
HP:0001263	Global developmental delay	5828	PEX2	ORPHA:772
HP:0001263	Global developmental delay	5828	PEX2	OMIM:614866
HP:0001263	Global developmental delay	5828	PEX2	OMIM:614867
HP:0001263	Global developmental delay	8504	PEX3	ORPHA:772
HP:0001263	Global developmental delay	8504	PEX3	OMIM:617370
HP:0001263	Global developmental delay	9409	PEX16	ORPHA:772
HP:0001263	Global developmental delay	9409	PEX16	OMIM:614877
HP:0001263	Global developmental delay	5190	PEX6	ORPHA:772
HP:0001263	Global developmental delay	5190	PEX6	OMIM:614863
HP:0001263	Global developmental delay	5190	PEX6	OMIM:616617
HP:0001263	Global developmental delay	8799	PEX11B	ORPHA:772
HP:0001263	Global developmental delay	5830	PEX5	ORPHA:772
HP:0001263	Global developmental delay	5830	PEX5	OMIM:616716
HP:0001263	Global developmental delay	5189	PEX1	ORPHA:772
HP:0001263	Global developmental delay	5189	PEX1	OMIM:214100
HP:0001263	Global developmental delay	5189	PEX1	OMIM:601539
HP:0001263	Global developmental delay	5193	PEX12	ORPHA:772
HP:0001263	Global developmental delay	5193	PEX12	OMIM:266510
HP:0001263	Global developmental delay	5194	PEX13	ORPHA:772
HP:0001263	Global developmental delay	5194	PEX13	OMIM:614883
HP:0001263	Global developmental delay	5195	PEX14	ORPHA:772
HP:0001263	Global developmental delay	5192	PEX10	ORPHA:772
HP:0001263	Global developmental delay	5192	PEX10	ORPHA:247815
HP:0001263	Global developmental delay	5192	PEX10	OMIM:614871
HP:0001263	Global developmental delay	201595	STT3B	ORPHA:370924
HP:0001263	Global developmental delay	201595	STT3B	OMIM:615597
HP:0001263	Global developmental delay	6748	SSR4	ORPHA:370927
HP:0001263	Global developmental delay	6748	SSR4	OMIM:300934
HP:0001263	Global developmental delay	10084	PQBP1	OMIM:309500
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93950
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93945
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93946
HP:0001263	Global developmental delay	10273	STUB1	ORPHA:412057
HP:0001263	Global developmental delay	8831	SYNGAP1	OMIM:612621
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:442835
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:1942
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:544254
HP:0001263	Global developmental delay	284058	KANSL1	OMIM:610443
HP:0001263	Global developmental delay	284058	KANSL1	ORPHA:363958
HP:0001263	Global developmental delay	284058	KANSL1	ORPHA:363965
HP:0001263	Global developmental delay	3643	INSR	ORPHA:769
HP:0001263	Global developmental delay	3643	INSR	OMIM:262190
HP:0001263	Global developmental delay	138050	HGSNAT	OMIM:252930
HP:0001263	Global developmental delay	10020	GNE	ORPHA:3166
HP:0001263	Global developmental delay	10020	GNE	OMIM:269921
HP:0001263	Global developmental delay	7474	WNT5A	OMIM:180700
HP:0001263	Global developmental delay	7474	WNT5A	ORPHA:3107
HP:0001263	Global developmental delay	1855	DVL1	OMIM:180700
HP:0001263	Global developmental delay	1855	DVL1	ORPHA:3107
HP:0001263	Global developmental delay	2801	GOLGA2	OMIM:620240
HP:0001263	Global developmental delay	4860	PNP	ORPHA:760
HP:0001263	Global developmental delay	64802	NMNAT1	OMIM:619260
HP:0001263	Global developmental delay	64802	NMNAT1	ORPHA:65
HP:0001263	Global developmental delay	116150	NUS1	OMIM:617082
HP:0001263	Global developmental delay	116150	NUS1	OMIM:617831
HP:0001263	Global developmental delay	116150	NUS1	ORPHA:442835
HP:0001263	Global developmental delay	55181	SMG8	OMIM:619268
HP:0001263	Global developmental delay	56947	MFF	OMIM:617086
HP:0001263	Global developmental delay	284361	EMC10	OMIM:619264
HP:0001263	Global developmental delay	27445	PCLO	OMIM:608027
HP:0001263	Global developmental delay	1373	CPS1	OMIM:237300
HP:0001263	Global developmental delay	25886	POC1A	OMIM:614813
HP:0001263	Global developmental delay	26146	TRAF3IP1	ORPHA:3156
HP:0001263	Global developmental delay	26146	TRAF3IP1	OMIM:616629
HP:0001263	Global developmental delay	9657	IQCB1	ORPHA:3156
HP:0001263	Global developmental delay	9657	IQCB1	ORPHA:65
HP:0001263	Global developmental delay	10806	SDCCAG8	ORPHA:3156
HP:0001263	Global developmental delay	10806	SDCCAG8	OMIM:615993
HP:0001263	Global developmental delay	27130	INVS	ORPHA:3156
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:3156
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:65
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:2318
HP:0001263	Global developmental delay	80184	CEP290	OMIM:615991
HP:0001263	Global developmental delay	80184	CEP290	OMIM:610188
HP:0001263	Global developmental delay	261734	NPHP4	ORPHA:3156
HP:0001263	Global developmental delay	57728	WDR19	ORPHA:3156
HP:0001263	Global developmental delay	27031	NPHP3	ORPHA:3156
HP:0001263	Global developmental delay	22897	CEP164	ORPHA:3156
HP:0001263	Global developmental delay	22897	CEP164	OMIM:614845
HP:0001263	Global developmental delay	2260	FGFR1	ORPHA:3157
HP:0001263	Global developmental delay	2260	FGFR1	ORPHA:2396
HP:0001263	Global developmental delay	2260	FGFR1	OMIM:613001
HP:0001263	Global developmental delay	2260	FGFR1	OMIM:615465
HP:0001263	Global developmental delay	128674	PROKR2	ORPHA:3157
HP:0001263	Global developmental delay	128674	PROKR2	ORPHA:95496
HP:0001263	Global developmental delay	6657	SOX2	ORPHA:3157
HP:0001263	Global developmental delay	6657	SOX2	OMIM:206900
HP:0001263	Global developmental delay	6657	SOX2	ORPHA:77298
HP:0001263	Global developmental delay	9915	ARNT2	ORPHA:3157
HP:0001263	Global developmental delay	8820	HESX1	ORPHA:3157
HP:0001263	Global developmental delay	8820	HESX1	ORPHA:95496
HP:0001263	Global developmental delay	8820	HESX1	OMIM:182230
HP:0001263	Global developmental delay	5015	OTX2	ORPHA:3157
HP:0001263	Global developmental delay	5015	OTX2	OMIM:610125
HP:0001263	Global developmental delay	168667	BMPER	OMIM:608022
HP:0001263	Global developmental delay	5138	PDE2A	OMIM:619150
HP:0001263	Global developmental delay	64374	SIL1	OMIM:248800
HP:0001263	Global developmental delay	64374	SIL1	ORPHA:559
HP:0001263	Global developmental delay	2294	FOXF1	OMIM:265380
HP:0001263	Global developmental delay	6535	SLC6A8	OMIM:300352
HP:0001263	Global developmental delay	6535	SLC6A8	ORPHA:52503
HP:0001263	Global developmental delay	26960	NBEA	OMIM:619157
HP:0001263	Global developmental delay	6309	SC5D	ORPHA:46059
HP:0001263	Global developmental delay	26128	KIFBP	OMIM:609460
HP:0001263	Global developmental delay	5631	PRPS1	ORPHA:411543
HP:0001263	Global developmental delay	5631	PRPS1	OMIM:301835
HP:0001263	Global developmental delay	5631	PRPS1	OMIM:300661
HP:0001263	Global developmental delay	5885	RAD21	OMIM:614701
HP:0001263	Global developmental delay	25821	MTO1	OMIM:614702
HP:0001263	Global developmental delay	7518	XRCC4	ORPHA:99812
HP:0001263	Global developmental delay	7518	XRCC4	OMIM:616541
HP:0001263	Global developmental delay	3981	LIG4	ORPHA:99812
HP:0001263	Global developmental delay	3981	LIG4	OMIM:606593
HP:0001263	Global developmental delay	6165	RPL35A	OMIM:612528
HP:0001263	Global developmental delay	51343	FZR1	OMIM:620145
HP:0001263	Global developmental delay	51343	FZR1	ORPHA:442835
HP:0001263	Global developmental delay	85300	ATCAY	ORPHA:94122
HP:0001263	Global developmental delay	85300	ATCAY	OMIM:601238
HP:0001263	Global developmental delay	64324	NSD1	ORPHA:821
HP:0001263	Global developmental delay	64324	NSD1	OMIM:117550
HP:0001263	Global developmental delay	64324	NSD1	ORPHA:3447
HP:0001263	Global developmental delay	29072	SETD2	ORPHA:821
HP:0001263	Global developmental delay	29072	SETD2	OMIM:620157
HP:0001263	Global developmental delay	29072	SETD2	OMIM:620155
HP:0001263	Global developmental delay	29072	SETD2	OMIM:616831
HP:0001263	Global developmental delay	10297	APC2	ORPHA:821
HP:0001263	Global developmental delay	10297	APC2	OMIM:618677
HP:0001263	Global developmental delay	10297	APC2	OMIM:617169
HP:0001263	Global developmental delay	4784	NFIX	ORPHA:447980
HP:0001263	Global developmental delay	4784	NFIX	OMIM:602535
HP:0001263	Global developmental delay	613	BCR	ORPHA:261330
HP:0001263	Global developmental delay	1399	CRKL	ORPHA:261330
HP:0001263	Global developmental delay	5594	MAPK1	ORPHA:261330
HP:0001263	Global developmental delay	5594	MAPK1	OMIM:619087
HP:0001263	Global developmental delay	55788	LMBRD1	OMIM:277380
HP:0001263	Global developmental delay	2314	FLII	ORPHA:819
HP:0001263	Global developmental delay	23096	IQSEC2	ORPHA:819
HP:0001263	Global developmental delay	23096	IQSEC2	ORPHA:397933
HP:0001263	Global developmental delay	10522	DEAF1	ORPHA:819
HP:0001263	Global developmental delay	10522	DEAF1	OMIM:615828
HP:0001263	Global developmental delay	10522	DEAF1	OMIM:617171
HP:0001263	Global developmental delay	1717	DHCR7	ORPHA:818
HP:0001263	Global developmental delay	1717	DHCR7	OMIM:270400
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:99802
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:201
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:60040
HP:0001263	Global developmental delay	5290	PIK3CA	OMIM:602501
HP:0001263	Global developmental delay	2475	MTOR	ORPHA:99802
HP:0001263	Global developmental delay	2475	MTOR	ORPHA:457485
HP:0001263	Global developmental delay	10000	AKT3	ORPHA:99802
HP:0001263	Global developmental delay	150468	CKAP2L	ORPHA:3255
HP:0001263	Global developmental delay	26153	KIF26A	OMIM:620156
HP:0001263	Global developmental delay	1185	CLCN6	OMIM:619173
HP:0001263	Global developmental delay	25839	COG4	ORPHA:263501
HP:0001263	Global developmental delay	25839	COG4	OMIM:613489
HP:0001263	Global developmental delay	25839	COG4	OMIM:618150
HP:0001263	Global developmental delay	4718	NDUFC2	OMIM:619170
HP:0001263	Global developmental delay	4001	LMNB1	OMIM:619179
HP:0001263	Global developmental delay	1272	CNTN1	OMIM:612540
HP:0001263	Global developmental delay	92579	G6PC3	OMIM:612541
HP:0001263	Global developmental delay	1801	DPH1	OMIM:616901
HP:0001263	Global developmental delay	1801	DPH1	ORPHA:459061
HP:0001263	Global developmental delay	412	STS	ORPHA:281090
HP:0001263	Global developmental delay	93627	TBCK	OMIM:616900
HP:0001263	Global developmental delay	5080	PAX6	ORPHA:1065
HP:0001263	Global developmental delay	3708	ITPR1	ORPHA:1065
HP:0001263	Global developmental delay	3708	ITPR1	ORPHA:208513
HP:0001263	Global developmental delay	3708	ITPR1	OMIM:117360
HP:0001263	Global developmental delay	55858	TMEM165	OMIM:614727
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:609446
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:618596
HP:0001263	Global developmental delay	3778	KCNMA1	ORPHA:79137
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:617643
HP:0001263	Global developmental delay	64087	MCCC2	OMIM:210210
HP:0001263	Global developmental delay	672	BRCA1	ORPHA:84
HP:0001263	Global developmental delay	672	BRCA1	OMIM:617883
HP:0001263	Global developmental delay	10459	MAD2L2	ORPHA:84
HP:0001263	Global developmental delay	7516	XRCC2	ORPHA:84
HP:0001263	Global developmental delay	29089	UBE2T	ORPHA:84
HP:0001263	Global developmental delay	675	BRCA2	ORPHA:84
HP:0001263	Global developmental delay	55120	FANCL	ORPHA:84
HP:0001263	Global developmental delay	55120	FANCL	OMIM:614083
HP:0001263	Global developmental delay	2177	FANCD2	ORPHA:84
HP:0001263	Global developmental delay	2175	FANCA	ORPHA:84
HP:0001263	Global developmental delay	2187	FANCB	ORPHA:84
HP:0001263	Global developmental delay	2176	FANCC	ORPHA:84
HP:0001263	Global developmental delay	2178	FANCE	ORPHA:84
HP:0001263	Global developmental delay	2178	FANCE	OMIM:600901
HP:0001263	Global developmental delay	2188	FANCF	ORPHA:84
HP:0001263	Global developmental delay	2189	FANCG	ORPHA:84
HP:0001263	Global developmental delay	5888	RAD51	ORPHA:84
HP:0001263	Global developmental delay	5889	RAD51C	ORPHA:84
HP:0001263	Global developmental delay	55159	RFWD3	ORPHA:84
HP:0001263	Global developmental delay	83990	BRIP1	ORPHA:84
HP:0001263	Global developmental delay	83990	BRIP1	OMIM:609054
HP:0001263	Global developmental delay	57697	FANCM	ORPHA:84
HP:0001263	Global developmental delay	79728	PALB2	ORPHA:84
HP:0001263	Global developmental delay	84464	SLX4	ORPHA:84
HP:0001263	Global developmental delay	2072	ERCC4	ORPHA:84
HP:0001263	Global developmental delay	2072	ERCC4	ORPHA:220295
HP:0001263	Global developmental delay	55215	FANCI	ORPHA:84
HP:0001263	Global developmental delay	55215	FANCI	OMIM:609053
HP:0001263	Global developmental delay	54675	CRLS1	OMIM:620167
HP:0001263	Global developmental delay	222663	SCUBE3	OMIM:619184
HP:0001263	Global developmental delay	23116	TOGARAM1	OMIM:619185
HP:0001263	Global developmental delay	23116	TOGARAM1	ORPHA:475
HP:0001263	Global developmental delay	10367	MICU1	ORPHA:401768
HP:0001263	Global developmental delay	10367	MICU1	OMIM:615673
HP:0001263	Global developmental delay	84823	LMNB2	OMIM:619180
HP:0001263	Global developmental delay	84823	LMNB2	OMIM:616540
HP:0001263	Global developmental delay	9184	BUB3	ORPHA:1052
HP:0001263	Global developmental delay	699	BUB1	ORPHA:1052
HP:0001263	Global developmental delay	9702	CEP57	ORPHA:1052
HP:0001263	Global developmental delay	9319	TRIP13	ORPHA:1052
HP:0001263	Global developmental delay	9319	TRIP13	OMIM:617598
HP:0001263	Global developmental delay	701	BUB1B	ORPHA:1052
HP:0001263	Global developmental delay	6999	TDO2	OMIM:600627
HP:0001263	Global developmental delay	23036	ZNF292	OMIM:619188
HP:0001263	Global developmental delay	55148	UBR7	OMIM:619189
HP:0001263	Global developmental delay	11284	PNKP	OMIM:613402
HP:0001263	Global developmental delay	11284	PNKP	ORPHA:1934
HP:0001263	Global developmental delay	56922	MCCC1	OMIM:210200
HP:0001263	Global developmental delay	3070	HELLS	OMIM:616911
HP:0001263	Global developmental delay	3070	HELLS	ORPHA:2268
HP:0001263	Global developmental delay	1028	CDKN1C	OMIM:614732
HP:0001263	Global developmental delay	1028	CDKN1C	ORPHA:397590
HP:0001263	Global developmental delay	63894	VIPAS39	OMIM:613404
HP:0001263	Global developmental delay	83879	CDCA7	OMIM:616910
HP:0001263	Global developmental delay	83879	CDCA7	ORPHA:2268
HP:0001263	Global developmental delay	1906	EDN1	ORPHA:137888
HP:0001263	Global developmental delay	2773	GNAI3	ORPHA:137888
HP:0001263	Global developmental delay	54872	PIGG	OMIM:616917
HP:0001263	Global developmental delay	54872	PIGG	ORPHA:280
HP:0001263	Global developmental delay	25942	SIN3A	OMIM:613406
HP:0001263	Global developmental delay	25942	SIN3A	ORPHA:94065
HP:0001263	Global developmental delay	53834	FGFRL1	OMIM:194190
HP:0001263	Global developmental delay	1487	CTBP1	OMIM:194190
HP:0001263	Global developmental delay	1487	CTBP1	ORPHA:280
HP:0001263	Global developmental delay	1487	CTBP1	OMIM:617915
HP:0001263	Global developmental delay	3954	LETM1	OMIM:194190
HP:0001263	Global developmental delay	3954	LETM1	ORPHA:280
HP:0001263	Global developmental delay	3954	LETM1	OMIM:620089
HP:0001263	Global developmental delay	10815	CPLX1	OMIM:194190
HP:0001263	Global developmental delay	10815	CPLX1	ORPHA:280
HP:0001263	Global developmental delay	10815	CPLX1	ORPHA:352582
HP:0001263	Global developmental delay	10815	CPLX1	OMIM:617976
HP:0001263	Global developmental delay	84947	SERAC1	OMIM:614739
HP:0001263	Global developmental delay	383	ARG1	ORPHA:90
HP:0001263	Global developmental delay	383	ARG1	OMIM:207800
HP:0001263	Global developmental delay	9653	HS2ST1	OMIM:619194
HP:0001263	Global developmental delay	3769	KCNJ13	ORPHA:65
HP:0001263	Global developmental delay	343035	RD3	ORPHA:65
HP:0001263	Global developmental delay	145226	RDH12	ORPHA:65
HP:0001263	Global developmental delay	1406	CRX	ORPHA:65
HP:0001263	Global developmental delay	57096	RPGRIP1	ORPHA:65
HP:0001263	Global developmental delay	10383	TUBB4B	ORPHA:65
HP:0001263	Global developmental delay	9742	IFT140	ORPHA:65
HP:0001263	Global developmental delay	9742	IFT140	OMIM:617781
HP:0001263	Global developmental delay	9742	IFT140	OMIM:266920
HP:0001263	Global developmental delay	85015	USP45	ORPHA:65
HP:0001263	Global developmental delay	23418	CRB1	ORPHA:65
HP:0001263	Global developmental delay	5130	PCYT1A	ORPHA:65
HP:0001263	Global developmental delay	392255	GDF6	ORPHA:65
HP:0001263	Global developmental delay	23746	AIPL1	ORPHA:65
HP:0001263	Global developmental delay	3000	GUCY2D	ORPHA:65
HP:0001263	Global developmental delay	7287	TULP1	ORPHA:65
HP:0001263	Global developmental delay	3614	IMPDH1	ORPHA:65
HP:0001263	Global developmental delay	7025	NR2F1	ORPHA:401777
HP:0001263	Global developmental delay	7025	NR2F1	OMIM:615722
HP:0001263	Global developmental delay	56006	SMG9	OMIM:616920
HP:0001263	Global developmental delay	51660	MPC1	OMIM:614741
HP:0001263	Global developmental delay	84720	PIGO	OMIM:614749
HP:0001263	Global developmental delay	84720	PIGO	ORPHA:247262
HP:0001263	Global developmental delay	89884	LHX4	ORPHA:95496
HP:0001263	Global developmental delay	55717	WDR11	ORPHA:95496
HP:0001263	Global developmental delay	6091	ROBO1	ORPHA:95496
HP:0001263	Global developmental delay	50937	CDON	ORPHA:95496
HP:0001263	Global developmental delay	50937	CDON	OMIM:614226
HP:0001263	Global developmental delay	23432	GPR161	ORPHA:95496
HP:0001263	Global developmental delay	11128	POLR3A	OMIM:264090
HP:0001263	Global developmental delay	11128	POLR3A	OMIM:607694
HP:0001263	Global developmental delay	11128	POLR3A	ORPHA:3455
HP:0001263	Global developmental delay	11128	POLR3A	ORPHA:447896
HP:0001263	Global developmental delay	5649	RELN	OMIM:257320
HP:0001263	Global developmental delay	80025	PANK2	OMIM:234200
HP:0001263	Global developmental delay	80025	PANK2	ORPHA:216866
HP:0001263	Global developmental delay	55719	SLF2	OMIM:620184
HP:0001263	Global developmental delay	55343	SLC35C1	OMIM:266265
HP:0001263	Global developmental delay	79759	ZNF668	OMIM:620194
HP:0001263	Global developmental delay	283209	PGM2L1	OMIM:620191
HP:0001263	Global developmental delay	1737	DLAT	OMIM:245348
HP:0001263	Global developmental delay	1737	DLAT	ORPHA:79244
HP:0001263	Global developmental delay	79228	THOC6	ORPHA:363444
HP:0001263	Global developmental delay	79228	THOC6	OMIM:613680
HP:0001263	Global developmental delay	3251	HPRT1	OMIM:300322
HP:0001263	Global developmental delay	3251	HPRT1	ORPHA:79233
HP:0001263	Global developmental delay	8050	PDHX	OMIM:245349
HP:0001263	Global developmental delay	8050	PDHX	ORPHA:255182
HP:0001263	Global developmental delay	23522	KAT6B	ORPHA:85201
HP:0001263	Global developmental delay	23522	KAT6B	OMIM:606170
HP:0001263	Global developmental delay	23522	KAT6B	ORPHA:3047
HP:0001263	Global developmental delay	4256	MGP	ORPHA:85202
HP:0001263	Global developmental delay	4256	MGP	OMIM:245150
HP:0001263	Global developmental delay	23261	CAMTA1	OMIM:614756
HP:0001263	Global developmental delay	23261	CAMTA1	ORPHA:314647
HP:0001263	Global developmental delay	2255	FGF10	ORPHA:2363
HP:0001263	Global developmental delay	54112	GPR88	OMIM:616939
HP:0001263	Global developmental delay	6605	SMARCE1	OMIM:616938
HP:0001263	Global developmental delay	415	ARSL	OMIM:302950
HP:0001263	Global developmental delay	415	ARSL	ORPHA:79345
HP:0001263	Global developmental delay	51322	WAC	ORPHA:284169
HP:0001263	Global developmental delay	51322	WAC	ORPHA:466950
HP:0001263	Global developmental delay	51322	WAC	OMIM:616708
HP:0001263	Global developmental delay	10735	STAG2	ORPHA:521258
HP:0001263	Global developmental delay	10735	STAG2	OMIM:301043
HP:0001263	Global developmental delay	10735	STAG2	OMIM:301022
HP:0001263	Global developmental delay	6611	SMS	OMIM:309583
HP:0001263	Global developmental delay	81887	LAS1L	OMIM:309585
HP:0001263	Global developmental delay	81887	LAS1L	ORPHA:3459
HP:0001263	Global developmental delay	147372	CCBE1	OMIM:235510
HP:0001263	Global developmental delay	6314	ATXN7	ORPHA:94147
HP:0001263	Global developmental delay	171023	ASXL1	OMIM:605039
HP:0001263	Global developmental delay	22907	DHX30	OMIM:617804
HP:0001263	Global developmental delay	9990	SLC12A6	ORPHA:1496
HP:0001263	Global developmental delay	9990	SLC12A6	OMIM:218000
HP:0001263	Global developmental delay	7407	VARS1	OMIM:617802
HP:0001263	Global developmental delay	9894	TELO2	OMIM:616954
HP:0001263	Global developmental delay	57724	EPG5	ORPHA:1493
HP:0001263	Global developmental delay	57724	EPG5	OMIM:242840
HP:0001263	Global developmental delay	196528	ARID2	OMIM:617808
HP:0001263	Global developmental delay	9230	RAB11B	OMIM:617807
HP:0001263	Global developmental delay	10535	RNASEH2A	ORPHA:51
HP:0001263	Global developmental delay	84153	RNASEH2C	ORPHA:51
HP:0001263	Global developmental delay	25939	SAMHD1	ORPHA:51
HP:0001263	Global developmental delay	25939	SAMHD1	OMIM:612952
HP:0001263	Global developmental delay	79621	RNASEH2B	ORPHA:51
HP:0001263	Global developmental delay	103	ADAR	ORPHA:51
HP:0001263	Global developmental delay	100147744	RNU7-1	ORPHA:51
HP:0001263	Global developmental delay	100147744	RNU7-1	OMIM:619487
HP:0001263	Global developmental delay	134353	LSM11	ORPHA:51
HP:0001263	Global developmental delay	64135	IFIH1	ORPHA:51
HP:0001263	Global developmental delay	64135	IFIH1	OMIM:615846
HP:0001263	Global developmental delay	56052	ALG1	OMIM:608540
HP:0001263	Global developmental delay	56052	ALG1	ORPHA:79327
HP:0001263	Global developmental delay	10075	HUWE1	OMIM:309590
HP:0001263	Global developmental delay	6323	SCN1A	OMIM:607208
HP:0001263	Global developmental delay	6323	SCN1A	ORPHA:1942
HP:0001263	Global developmental delay	6323	SCN1A	OMIM:619317
HP:0001263	Global developmental delay	22856	CHSY1	ORPHA:363417
HP:0001263	Global developmental delay	22856	CHSY1	OMIM:605282
HP:0001263	Global developmental delay	60529	ALX4	OMIM:613451
HP:0001263	Global developmental delay	60529	ALX4	ORPHA:52022
HP:0001263	Global developmental delay	8733	GPAA1	OMIM:617810
HP:0001263	Global developmental delay	2290	FOXG1	OMIM:613454
HP:0001263	Global developmental delay	79848	CSPP1	OMIM:615636
HP:0001263	Global developmental delay	79848	CSPP1	ORPHA:397715
HP:0001263	Global developmental delay	79848	CSPP1	ORPHA:475
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:612126
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:606777
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:1942
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:168577
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:608885
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:71277
HP:0001263	Global developmental delay	29123	ANKRD11	ORPHA:2332
HP:0001263	Global developmental delay	29123	ANKRD11	OMIM:148050
HP:0001263	Global developmental delay	9759	HDAC4	ORPHA:1001
HP:0001263	Global developmental delay	9759	HDAC4	OMIM:600430
HP:0001263	Global developmental delay	9759	HDAC4	OMIM:619797
HP:0001263	Global developmental delay	11133	KPTN	OMIM:615637
HP:0001263	Global developmental delay	6334	SCN8A	OMIM:614306
HP:0001263	Global developmental delay	6334	SCN8A	ORPHA:442835
HP:0001263	Global developmental delay	6334	SCN8A	OMIM:614558
HP:0001263	Global developmental delay	50943	FOXP3	OMIM:304790
HP:0001263	Global developmental delay	5279	PIGC	OMIM:617816
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:605021
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:79500
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:352596
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:352582
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:220500
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:615338
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:216360
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:615991
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:610688
HP:0001263	Global developmental delay	91147	TMEM67	ORPHA:475
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:613550
HP:0001263	Global developmental delay	9150	CTDP1	OMIM:604168
HP:0001263	Global developmental delay	9150	CTDP1	ORPHA:48431
HP:0001263	Global developmental delay	79587	CARS2	ORPHA:477774
HP:0001263	Global developmental delay	79587	CARS2	OMIM:616672
HP:0001263	Global developmental delay	84162	BLTP1	OMIM:617822
HP:0001263	Global developmental delay	80347	COASY	OMIM:615643
HP:0001263	Global developmental delay	123016	TTC8	OMIM:613464
HP:0001263	Global developmental delay	123016	TTC8	OMIM:615985
HP:0001263	Global developmental delay	2902	GRIN1	OMIM:617820
HP:0001263	Global developmental delay	2902	GRIN1	ORPHA:1934
HP:0001263	Global developmental delay	2782	GNB1	OMIM:616973
HP:0001263	Global developmental delay	2782	GNB1	ORPHA:488613
HP:0001263	Global developmental delay	3097	HIVEP2	OMIM:616977
HP:0001263	Global developmental delay	2561	GABRB2	OMIM:617829
HP:0001263	Global developmental delay	2561	GABRB2	ORPHA:442835
HP:0001263	Global developmental delay	54820	NDE1	OMIM:605013
HP:0001263	Global developmental delay	54820	NDE1	ORPHA:2177
HP:0001263	Global developmental delay	54820	NDE1	OMIM:614019
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177904
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177901
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177910
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177907
HP:0001263	Global developmental delay	6638	SNRPN	OMIM:105830
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:98754
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177904
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177901
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177910
HP:0001263	Global developmental delay	4692	NDN	ORPHA:98754
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:177904
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:177901
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:98794
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:98754
HP:0001263	Global developmental delay	55906	ZC4H2	OMIM:314580
HP:0001263	Global developmental delay	55906	ZC4H2	ORPHA:3454
HP:0001263	Global developmental delay	55906	ZC4H2	OMIM:301041
HP:0001263	Global developmental delay	23732	FRRS1L	OMIM:616981
HP:0001263	Global developmental delay	85358	SHANK3	ORPHA:48652
HP:0001263	Global developmental delay	85358	SHANK3	OMIM:606232
HP:0001263	Global developmental delay	10560	SLC19A2	OMIM:249270
HP:0001263	Global developmental delay	4915	NTRK2	OMIM:617830
HP:0001263	Global developmental delay	4915	NTRK2	ORPHA:442835
HP:0001263	Global developmental delay	51741	WWOX	OMIM:614322
HP:0001263	Global developmental delay	51741	WWOX	ORPHA:442835
HP:0001263	Global developmental delay	51741	WWOX	OMIM:616211
HP:0001263	Global developmental delay	4358	MPV17	OMIM:256810
HP:0001263	Global developmental delay	6663	SOX10	ORPHA:163746
HP:0001263	Global developmental delay	6663	SOX10	OMIM:611584
HP:0001263	Global developmental delay	6663	SOX10	OMIM:609136
HP:0001263	Global developmental delay	79947	DHDDS	OMIM:617836
HP:0001263	Global developmental delay	79947	DHDDS	ORPHA:442835
HP:0001263	Global developmental delay	91137	SLC25A46	OMIM:616505
HP:0001263	Global developmental delay	91137	SLC25A46	ORPHA:2254
HP:0001263	Global developmental delay	5075	PAX1	ORPHA:2792
HP:0001263	Global developmental delay	5075	PAX1	OMIM:615560
HP:0001263	Global developmental delay	79583	TMEM231	ORPHA:2318
HP:0001263	Global developmental delay	79583	TMEM231	OMIM:614970
HP:0001263	Global developmental delay	51524	TMEM138	ORPHA:2318
HP:0001263	Global developmental delay	23090	ZNF423	ORPHA:2318
HP:0001263	Global developmental delay	57545	CC2D2A	ORPHA:2318
HP:0001263	Global developmental delay	57545	CC2D2A	OMIM:619111
HP:0001263	Global developmental delay	57545	CC2D2A	OMIM:612285
HP:0001263	Global developmental delay	6469	SHH	OMIM:142945
HP:0001263	Global developmental delay	5147	PDE6D	OMIM:615665
HP:0001263	Global developmental delay	5147	PDE6D	ORPHA:2754
HP:0001263	Global developmental delay	4854	NOTCH3	ORPHA:2789
HP:0001263	Global developmental delay	4854	NOTCH3	OMIM:130720
HP:0001263	Global developmental delay	121278	TPH2	OMIM:613003
HP:0001263	Global developmental delay	4914	NTRK1	OMIM:256800
HP:0001263	Global developmental delay	114548	NLRP3	ORPHA:1451
HP:0001263	Global developmental delay	9750	RIPOR2	OMIM:616515
HP:0001263	Global developmental delay	5723	PSPH	ORPHA:79350
HP:0001263	Global developmental delay	5723	PSPH	OMIM:614023
HP:0001263	Global developmental delay	139285	AMER1	ORPHA:2780
HP:0001263	Global developmental delay	2313	FLI1	ORPHA:2308
HP:0001263	Global developmental delay	326625	MMAB	OMIM:251110
HP:0001263	Global developmental delay	760	CA2	ORPHA:2785
HP:0001263	Global developmental delay	9361	LONP1	ORPHA:1458
HP:0001263	Global developmental delay	9361	LONP1	OMIM:600373
HP:0001263	Global developmental delay	55180	LINS1	OMIM:614340
HP:0001263	Global developmental delay	1213	CLTC	OMIM:617854
HP:0001263	Global developmental delay	1213	CLTC	ORPHA:442835
HP:0001263	Global developmental delay	23040	MYT1L	OMIM:616521
HP:0001263	Global developmental delay	80152	CENPT	OMIM:618702
HP:0001263	Global developmental delay	28514	DLL1	OMIM:618709
HP:0001263	Global developmental delay	23556	PIGN	ORPHA:280633
HP:0001263	Global developmental delay	23556	PIGN	OMIM:614080
HP:0001263	Global developmental delay	122553	TRAPPC6B	OMIM:617862
HP:0001263	Global developmental delay	2893	GRIA4	OMIM:617864
HP:0001263	Global developmental delay	81562	LMAN2L	OMIM:617863
HP:0001263	Global developmental delay	81562	LMAN2L	OMIM:616887
HP:0001263	Global developmental delay	57570	TRMT5	OMIM:616539
HP:0001263	Global developmental delay	1605	DAG1	OMIM:616538
HP:0001263	Global developmental delay	1605	DAG1	OMIM:613818
HP:0001263	Global developmental delay	1605	DAG1	ORPHA:899
HP:0001263	Global developmental delay	8292	COLQ	ORPHA:98915
HP:0001263	Global developmental delay	3913	LAMB2	ORPHA:98915
HP:0001263	Global developmental delay	3913	LAMB2	OMIM:609049
HP:0001263	Global developmental delay	84628	NTNG2	OMIM:618718
HP:0001263	Global developmental delay	5456	POU3F4	ORPHA:1435
HP:0001263	Global developmental delay	55691	FRMD4A	ORPHA:466688
HP:0001263	Global developmental delay	55691	FRMD4A	OMIM:616819
HP:0001263	Global developmental delay	10577	NPC2	OMIM:607625
HP:0001263	Global developmental delay	5422	POLA1	OMIM:301220
HP:0001263	Global developmental delay	5422	POLA1	OMIM:301030
HP:0001263	Global developmental delay	54802	TRIT1	OMIM:617873
HP:0001263	Global developmental delay	51099	ABHD5	ORPHA:98907
HP:0001263	Global developmental delay	51317	PHF21A	OMIM:618725
HP:0001263	Global developmental delay	51317	PHF21A	ORPHA:52022
HP:0001263	Global developmental delay	4724	NDUFS4	OMIM:252010
HP:0001263	Global developmental delay	4724	NDUFS4	ORPHA:255241
HP:0001263	Global developmental delay	4724	NDUFS4	ORPHA:2609
HP:0001263	Global developmental delay	387	RHOA	OMIM:618727
HP:0001263	Global developmental delay	1788	DNMT3A	OMIM:618724
HP:0001263	Global developmental delay	1788	DNMT3A	OMIM:615879
HP:0001263	Global developmental delay	4750	NEK1	ORPHA:2751
HP:0001263	Global developmental delay	6496	SIX3	OMIM:157170
HP:0001263	Global developmental delay	8086	AAAS	OMIM:231550
HP:0001263	Global developmental delay	26123	TCTN3	ORPHA:2753
HP:0001263	Global developmental delay	26123	TCTN3	ORPHA:2754
HP:0001263	Global developmental delay	10210	TOPORS	ORPHA:2754
HP:0001263	Global developmental delay	9851	KIAA0753	ORPHA:2754
HP:0001263	Global developmental delay	9851	KIAA0753	OMIM:619476
HP:0001263	Global developmental delay	65250	CPLANE1	ORPHA:2754
HP:0001263	Global developmental delay	65250	CPLANE1	OMIM:614615
HP:0001263	Global developmental delay	65250	CPLANE1	OMIM:277170
HP:0001263	Global developmental delay	65250	CPLANE1	ORPHA:475
HP:0001263	Global developmental delay	8481	OFD1	ORPHA:2754
HP:0001263	Global developmental delay	8481	OFD1	OMIM:300804
HP:0001263	Global developmental delay	8481	OFD1	OMIM:300209
HP:0001263	Global developmental delay	374654	KIF7	ORPHA:2754
HP:0001263	Global developmental delay	374654	KIF7	OMIM:607131
HP:0001263	Global developmental delay	5144	PDE4D	ORPHA:280651
HP:0001263	Global developmental delay	5144	PDE4D	OMIM:614613
HP:0001263	Global developmental delay	51075	TMX2	OMIM:618730
HP:0001263	Global developmental delay	57647	DHX37	OMIM:618731
HP:0001263	Global developmental delay	65057	ACD	OMIM:616553
HP:0001263	Global developmental delay	65057	ACD	ORPHA:3322
HP:0001263	Global developmental delay	1806	DPYD	ORPHA:293948
HP:0001263	Global developmental delay	1806	DPYD	ORPHA:1675
HP:0001263	Global developmental delay	7471	WNT1	OMIM:615220
HP:0001263	Global developmental delay	10736	SIX2	ORPHA:488437
HP:0001263	Global developmental delay	51763	INPP5K	OMIM:617404
HP:0001263	Global developmental delay	51763	INPP5K	ORPHA:559
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:411511
HP:0001263	Global developmental delay	7337	UBE3A	OMIM:105830
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:238446
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:98794
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:98795
HP:0001263	Global developmental delay	8449	DHX16	OMIM:618733
HP:0001263	Global developmental delay	6655	SOS2	OMIM:616559
HP:0001263	Global developmental delay	3852	KRT5	ORPHA:79396
HP:0001263	Global developmental delay	3852	KRT5	OMIM:619599
HP:0001263	Global developmental delay	3861	KRT14	ORPHA:79396
HP:0001263	Global developmental delay	2137	EXTL3	ORPHA:508533
HP:0001263	Global developmental delay	7528	YY1	ORPHA:506358
HP:0001263	Global developmental delay	7528	YY1	OMIM:617557
HP:0001263	Global developmental delay	1497	CTNS	OMIM:219800
HP:0001263	Global developmental delay	2218	FKTN	ORPHA:272
HP:0001263	Global developmental delay	2218	FKTN	OMIM:236670
HP:0001263	Global developmental delay	2218	FKTN	ORPHA:899
HP:0001263	Global developmental delay	4791	NFKB2	ORPHA:293978
HP:0001263	Global developmental delay	4791	NFKB2	OMIM:615577
HP:0001263	Global developmental delay	10617	STAMBP	OMIM:614261
HP:0001263	Global developmental delay	8367	H4C5	OMIM:619950
HP:0001263	Global developmental delay	8294	H4C9	OMIM:619951
HP:0001263	Global developmental delay	9853	RUSC2	OMIM:617773
HP:0001263	Global developmental delay	197322	ACSF3	OMIM:614265
HP:0001263	Global developmental delay	197322	ACSF3	ORPHA:289504
HP:0001263	Global developmental delay	3703	STT3A	OMIM:615596
HP:0001263	Global developmental delay	3703	STT3A	ORPHA:370921
HP:0001263	Global developmental delay	343450	KCNT2	OMIM:617771
HP:0001263	Global developmental delay	6873	TAF2	OMIM:615599
HP:0001263	Global developmental delay	6873	TAF2	ORPHA:397951
HP:0001263	Global developmental delay	10054	UBA2	OMIM:619959
HP:0001263	Global developmental delay	55627	SMPD4	OMIM:618622
HP:0001263	Global developmental delay	23417	MLYCD	OMIM:248360
HP:0001263	Global developmental delay	81857	MED25	OMIM:616449
HP:0001263	Global developmental delay	5361	PLXNA1	OMIM:619955
HP:0001263	Global developmental delay	64682	ANAPC1	OMIM:618625
HP:0001263	Global developmental delay	64682	ANAPC1	ORPHA:221008
HP:0001263	Global developmental delay	9786	KIAA0586	ORPHA:397715
HP:0001263	Global developmental delay	9786	KIAA0586	OMIM:616490
HP:0001263	Global developmental delay	9786	KIAA0586	ORPHA:475
HP:0001263	Global developmental delay	57165	GJC2	OMIM:608804
HP:0001263	Global developmental delay	267010	RNU12	OMIM:603116
HP:0001263	Global developmental delay	6536	SLC6A9	OMIM:617301
HP:0001263	Global developmental delay	51111	KMT5B	OMIM:617788
HP:0001263	Global developmental delay	790	CAD	OMIM:616457
HP:0001263	Global developmental delay	80155	NAA15	OMIM:617787
HP:0001263	Global developmental delay	65082	VPS33A	OMIM:617303
HP:0001263	Global developmental delay	65082	VPS33A	ORPHA:505248
HP:0001263	Global developmental delay	526	ATP6V1B2	OMIM:616455
HP:0001263	Global developmental delay	526	ATP6V1B2	ORPHA:79500
HP:0001263	Global developmental delay	10730	YME1L1	OMIM:617302
HP:0001263	Global developmental delay	10565	ARFGEF1	OMIM:619964
HP:0001263	Global developmental delay	8309	ACOX2	OMIM:617308
HP:0001263	Global developmental delay	129563	DIS3L2	ORPHA:2849
HP:0001263	Global developmental delay	129563	DIS3L2	OMIM:267000
HP:0001263	Global developmental delay	128486	FITM2	OMIM:618635
HP:0001263	Global developmental delay	28960	DCPS	OMIM:616459
HP:0001263	Global developmental delay	3284	HSD3B2	ORPHA:90791
HP:0001263	Global developmental delay	10559	SLC35A1	OMIM:603585
HP:0001263	Global developmental delay	535	ATP6V0A1	OMIM:619971
HP:0001263	Global developmental delay	535	ATP6V0A1	OMIM:619970
HP:0001263	Global developmental delay	129685	TAF8	OMIM:619972
HP:0001263	Global developmental delay	10584	COLEC10	OMIM:248340
HP:0001263	Global developmental delay	55870	ASH1L	OMIM:617796
HP:0001263	Global developmental delay	91869	RFT1	ORPHA:244310
HP:0001263	Global developmental delay	91869	RFT1	OMIM:612015
HP:0001263	Global developmental delay	816	CAMK2B	OMIM:617799
HP:0001263	Global developmental delay	815	CAMK2A	OMIM:617798
HP:0001263	Global developmental delay	815	CAMK2A	OMIM:618095
HP:0001263	Global developmental delay	23545	ATP6V0A2	ORPHA:2834
HP:0001263	Global developmental delay	23545	ATP6V0A2	ORPHA:357074
HP:0001263	Global developmental delay	547	KIF1A	ORPHA:2836
HP:0001263	Global developmental delay	547	KIF1A	OMIM:614213
HP:0001263	Global developmental delay	547	KIF1A	OMIM:614255
HP:0001263	Global developmental delay	23184	MESD	OMIM:618644
HP:0001263	Global developmental delay	79184	BRCC3	ORPHA:280679
HP:0001263	Global developmental delay	2626	GATA4	ORPHA:251071
HP:0001263	Global developmental delay	1281	COL3A1	ORPHA:286
HP:0001263	Global developmental delay	652	BMP4	OMIM:607932
HP:0001263	Global developmental delay	652	BMP4	ORPHA:139471
HP:0001263	Global developmental delay	7469	NELFA	ORPHA:280
HP:0001263	Global developmental delay	22884	WDR37	OMIM:618652
HP:0001263	Global developmental delay	1656	DDX6	OMIM:618653
HP:0001263	Global developmental delay	55714	TENM3	OMIM:615145
HP:0001263	Global developmental delay	83636	C19orf12	OMIM:614298
HP:0001263	Global developmental delay	57178	ZMIZ1	OMIM:618659
HP:0001263	Global developmental delay	388962	BOLA3	OMIM:614299
HP:0001263	Global developmental delay	26057	ANKRD17	OMIM:619504
HP:0001263	Global developmental delay	9731	CEP104	OMIM:619988
HP:0001263	Global developmental delay	9731	CEP104	OMIM:616781
HP:0001263	Global developmental delay	9731	CEP104	ORPHA:475
HP:0001263	Global developmental delay	3737	KCNA2	ORPHA:442835
HP:0001263	Global developmental delay	3737	KCNA2	OMIM:616366
HP:0001263	Global developmental delay	1759	DNM1	ORPHA:442835
HP:0001263	Global developmental delay	1759	DNM1	OMIM:616346
HP:0001263	Global developmental delay	8120	AP3B2	ORPHA:442835
HP:0001263	Global developmental delay	8120	AP3B2	OMIM:617276
HP:0001263	Global developmental delay	523	ATP6V1A	ORPHA:442835
HP:0001263	Global developmental delay	523	ATP6V1A	OMIM:618012
HP:0001263	Global developmental delay	523	ATP6V1A	ORPHA:357074
HP:0001263	Global developmental delay	10991	SLC38A3	ORPHA:442835
HP:0001263	Global developmental delay	10991	SLC38A3	OMIM:619881
HP:0001263	Global developmental delay	22906	TRAK1	ORPHA:442835
HP:0001263	Global developmental delay	22906	TRAK1	OMIM:618201
HP:0001263	Global developmental delay	2566	GABRG2	ORPHA:442835
HP:0001263	Global developmental delay	1917	EEF1A2	ORPHA:442835
HP:0001263	Global developmental delay	1917	EEF1A2	OMIM:616409
HP:0001263	Global developmental delay	1917	EEF1A2	OMIM:616393
HP:0001263	Global developmental delay	7532	YWHAG	ORPHA:442835
HP:0001263	Global developmental delay	7532	YWHAG	OMIM:617665
HP:0001263	Global developmental delay	79876	UBA5	ORPHA:442835
HP:0001263	Global developmental delay	79876	UBA5	OMIM:617132
HP:0001263	Global developmental delay	6328	SCN3A	ORPHA:442835
HP:0001263	Global developmental delay	6328	SCN3A	OMIM:617935
HP:0001263	Global developmental delay	6328	SCN3A	OMIM:617938
HP:0001263	Global developmental delay	2558	GABRA5	ORPHA:442835
HP:0001263	Global developmental delay	2558	GABRA5	OMIM:618559
HP:0001263	Global developmental delay	781	CACNA2D1	ORPHA:442835
HP:0001263	Global developmental delay	2906	GRIN2D	ORPHA:442835
HP:0001263	Global developmental delay	2906	GRIN2D	OMIM:617162
HP:0001263	Global developmental delay	10659	CELF2	ORPHA:442835
HP:0001263	Global developmental delay	774	CACNA1B	ORPHA:442835
HP:0001263	Global developmental delay	774	CACNA1B	OMIM:618497
HP:0001263	Global developmental delay	23334	SZT2	ORPHA:442835
HP:0001263	Global developmental delay	51412	ACTL6B	ORPHA:442835
HP:0001263	Global developmental delay	348980	HCN1	ORPHA:442835
HP:0001263	Global developmental delay	348980	HCN1	OMIM:618482
HP:0001263	Global developmental delay	6506	SLC1A2	ORPHA:442835
HP:0001263	Global developmental delay	6506	SLC1A2	OMIM:617105
HP:0001263	Global developmental delay	8867	SYNJ1	ORPHA:442835
HP:0001263	Global developmental delay	8867	SYNJ1	OMIM:617389
HP:0001263	Global developmental delay	2258	FGF13	ORPHA:442835
HP:0001263	Global developmental delay	3745	KCNB1	ORPHA:442835
HP:0001263	Global developmental delay	3745	KCNB1	OMIM:616056
HP:0001263	Global developmental delay	284111	SLC13A5	ORPHA:442835
HP:0001263	Global developmental delay	284111	SLC13A5	OMIM:615905
HP:0001263	Global developmental delay	25977	NECAP1	ORPHA:442835
HP:0001263	Global developmental delay	22866	CNKSR2	ORPHA:442835
HP:0001263	Global developmental delay	22866	CNKSR2	OMIM:301008
HP:0001263	Global developmental delay	9568	GABBR2	ORPHA:442835
HP:0001263	Global developmental delay	2555	GABRA2	ORPHA:442835
HP:0001263	Global developmental delay	2555	GABRA2	OMIM:618557
HP:0001263	Global developmental delay	55152	DALRD3	ORPHA:442835
HP:0001263	Global developmental delay	773	CACNA1A	ORPHA:442835
HP:0001263	Global developmental delay	773	CACNA1A	OMIM:617106
HP:0001263	Global developmental delay	26999	CYFIP2	ORPHA:442835
HP:0001263	Global developmental delay	25973	PARS2	ORPHA:442835
HP:0001263	Global developmental delay	25973	PARS2	OMIM:618437
HP:0001263	Global developmental delay	23097	CDK19	ORPHA:442835
HP:0001263	Global developmental delay	23097	CDK19	OMIM:618916
HP:0001263	Global developmental delay	64801	ARV1	ORPHA:442835
HP:0001263	Global developmental delay	2257	FGF12	ORPHA:442835
HP:0001263	Global developmental delay	5530	PPP3CA	ORPHA:442835
HP:0001263	Global developmental delay	5530	PPP3CA	OMIM:618265
HP:0001263	Global developmental delay	5530	PPP3CA	OMIM:617711
HP:0001263	Global developmental delay	55623	THUMPD1	OMIM:619989
HP:0001263	Global developmental delay	3782	KCNN3	OMIM:618658
HP:0001263	Global developmental delay	8642	DCHS1	OMIM:601390
HP:0001263	Global developmental delay	8642	DCHS1	ORPHA:314679
HP:0001263	Global developmental delay	8241	RBM10	OMIM:311900
HP:0001263	Global developmental delay	8241	RBM10	ORPHA:2886
HP:0001263	Global developmental delay	57167	SALL4	ORPHA:233
HP:0001263	Global developmental delay	9935	MAFB	ORPHA:233
HP:0001263	Global developmental delay	1123	CHN1	ORPHA:233
HP:0001263	Global developmental delay	2074	ERCC6	OMIM:214150
HP:0001263	Global developmental delay	2074	ERCC6	OMIM:278800
HP:0001263	Global developmental delay	253738	EBF3	OMIM:617330
HP:0001263	Global developmental delay	23312	DMXL2	OMIM:618663
HP:0001263	Global developmental delay	23312	DMXL2	ORPHA:1934
HP:0001263	Global developmental delay	1182	CLCN3	OMIM:619512
HP:0001263	Global developmental delay	1182	CLCN3	OMIM:619517
HP:0001263	Global developmental delay	85301	COL27A1	OMIM:615155
HP:0001263	Global developmental delay	63895	PIEZO2	OMIM:114300
HP:0001263	Global developmental delay	63895	PIEZO2	ORPHA:2461
HP:0001263	Global developmental delay	63895	PIEZO2	OMIM:617146
HP:0001263	Global developmental delay	84879	MFSD2A	OMIM:616486
HP:0001263	Global developmental delay	84879	MFSD2A	ORPHA:2512
HP:0001263	Global developmental delay	7862	BRPF1	OMIM:617333
HP:0001263	Global developmental delay	27089	UQCRQ	OMIM:615159
HP:0001263	Global developmental delay	55699	IARS2	OMIM:616007
HP:0001263	Global developmental delay	54902	TTC19	OMIM:615157
HP:0001263	Global developmental delay	3481	IGF2	OMIM:616489
HP:0001263	Global developmental delay	3481	IGF2	OMIM:180860
HP:0001263	Global developmental delay	3481	IGF2	ORPHA:397590
HP:0001263	Global developmental delay	4191	MDH2	OMIM:617339
HP:0001263	Global developmental delay	286	ANK1	ORPHA:251066
HP:0001263	Global developmental delay	5860	QDPR	ORPHA:226
HP:0001263	Global developmental delay	5860	QDPR	OMIM:261630
HP:0001263	Global developmental delay	166785	MMAA	OMIM:251100
HP:0001263	Global developmental delay	5551	PRF1	OMIM:603553
HP:0001263	Global developmental delay	8676	STX11	OMIM:603552
HP:0001263	Global developmental delay	554	AVPR2	ORPHA:223
HP:0001263	Global developmental delay	359	AQP2	ORPHA:223
HP:0001263	Global developmental delay	26137	ZBTB20	OMIM:259050
HP:0001263	Global developmental delay	9533	POLR1C	OMIM:616494
HP:0001263	Global developmental delay	9533	POLR1C	ORPHA:861
HP:0001263	Global developmental delay	7385	UQCRC2	OMIM:615160
HP:0001263	Global developmental delay	7750	ZMYM2	OMIM:619522
HP:0001263	Global developmental delay	4849	CNOT3	OMIM:618672
HP:0001263	Global developmental delay	22	ABCB7	ORPHA:2802
HP:0001263	Global developmental delay	57492	ARID1B	ORPHA:251056
HP:0001263	Global developmental delay	57492	ARID1B	OMIM:135900
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:576283
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:251028
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:251019
HP:0001263	Global developmental delay	23314	SATB2	OMIM:612313
HP:0001263	Global developmental delay	6324	SCN1B	OMIM:617350
HP:0001263	Global developmental delay	6324	SCN1B	ORPHA:1934
HP:0001263	Global developmental delay	79989	IFT56	OMIM:619534
HP:0001263	Global developmental delay	9922	IQSEC1	OMIM:618687
HP:0001263	Global developmental delay	284098	PIGW	OMIM:616025
HP:0001263	Global developmental delay	284098	PIGW	ORPHA:247262
HP:0001263	Global developmental delay	57479	PRR12	OMIM:619539
HP:0001263	Global developmental delay	2678	GGT1	OMIM:231950
HP:0001263	Global developmental delay	2006	ELN	ORPHA:90348
HP:0001263	Global developmental delay	10516	FBLN5	ORPHA:90348
HP:0001263	Global developmental delay	3785	KCNQ2	ORPHA:439218
HP:0001263	Global developmental delay	3785	KCNQ2	OMIM:613720
HP:0001263	Global developmental delay	3785	KCNQ2	OMIM:121200
HP:0001263	Global developmental delay	3930	LBR	OMIM:169400
HP:0001263	Global developmental delay	1107	CHD3	OMIM:618205
HP:0001263	Global developmental delay	2055	CLN8	ORPHA:1947
HP:0001263	Global developmental delay	404672	GTF2H5	ORPHA:33364
HP:0001263	Global developmental delay	404672	GTF2H5	OMIM:616395
HP:0001263	Global developmental delay	833	CARS1	ORPHA:33364
HP:0001263	Global developmental delay	2068	ERCC2	ORPHA:33364
HP:0001263	Global developmental delay	2068	ERCC2	OMIM:610756
HP:0001263	Global developmental delay	2068	ERCC2	ORPHA:220295
HP:0001263	Global developmental delay	7737	RNF113A	ORPHA:33364
HP:0001263	Global developmental delay	136647	MPLKIP	ORPHA:33364
HP:0001263	Global developmental delay	136647	MPLKIP	OMIM:234050
HP:0001263	Global developmental delay	6897	TARS1	ORPHA:33364
HP:0001263	Global developmental delay	2071	ERCC3	ORPHA:33364
HP:0001263	Global developmental delay	2071	ERCC3	ORPHA:220295
HP:0001263	Global developmental delay	2961	GTF2E2	ORPHA:33364
HP:0001263	Global developmental delay	1173	AP2M1	ORPHA:1942
HP:0001263	Global developmental delay	340533	NEXMIF	ORPHA:1942
HP:0001263	Global developmental delay	340533	NEXMIF	OMIM:300912
HP:0001263	Global developmental delay	1106	CHD2	ORPHA:1942
HP:0001263	Global developmental delay	1106	CHD2	OMIM:615369
HP:0001263	Global developmental delay	6529	SLC6A1	ORPHA:1942
HP:0001263	Global developmental delay	6529	SLC6A1	OMIM:616421
HP:0001263	Global developmental delay	9896	FIG4	OMIM:216340
HP:0001263	Global developmental delay	9896	FIG4	ORPHA:3472
HP:0001263	Global developmental delay	9896	FIG4	ORPHA:208441
HP:0001263	Global developmental delay	6595	SMARCA2	OMIM:601358
HP:0001263	Global developmental delay	6595	SMARCA2	ORPHA:3051
HP:0001263	Global developmental delay	6595	SMARCA2	OMIM:619293
HP:0001263	Global developmental delay	148789	B3GALNT2	OMIM:615181
HP:0001263	Global developmental delay	148789	B3GALNT2	ORPHA:899
HP:0001263	Global developmental delay	27247	NFU1	OMIM:605711
HP:0001263	Global developmental delay	6576	SLC25A1	OMIM:615182
HP:0001263	Global developmental delay	6576	SLC25A1	OMIM:618197
HP:0001263	Global developmental delay	7040	TGFB1	OMIM:618213
HP:0001263	Global developmental delay	8621	CDK13	OMIM:617360
HP:0001263	Global developmental delay	133686	NADK2	OMIM:616034
HP:0001263	Global developmental delay	133686	NADK2	ORPHA:431361
HP:0001263	Global developmental delay	5587	PRKD1	OMIM:617364
HP:0001263	Global developmental delay	164	AP1G1	OMIM:619548
HP:0001263	Global developmental delay	164	AP1G1	OMIM:619467
HP:0001263	Global developmental delay	6857	SYT1	OMIM:618218
HP:0001263	Global developmental delay	79751	SLC25A22	ORPHA:1935
HP:0001263	Global developmental delay	79751	SLC25A22	ORPHA:1934
HP:0001263	Global developmental delay	150094	SIK1	ORPHA:1935
HP:0001263	Global developmental delay	150094	SIK1	ORPHA:1934
HP:0001263	Global developmental delay	150094	SIK1	OMIM:616341
HP:0001263	Global developmental delay	8905	AP1S2	OMIM:304340
HP:0001263	Global developmental delay	8905	AP1S2	ORPHA:85335
HP:0001263	Global developmental delay	8905	AP1S2	ORPHA:85329
HP:0001263	Global developmental delay	3736	KCNA1	ORPHA:1934
HP:0001263	Global developmental delay	9091	PIGQ	ORPHA:1934
HP:0001263	Global developmental delay	81603	TRIM8	ORPHA:1934
HP:0001263	Global developmental delay	81603	TRIM8	OMIM:619428
HP:0001263	Global developmental delay	2917	GRM7	ORPHA:1934
HP:0001263	Global developmental delay	170302	ARX	ORPHA:1934
HP:0001263	Global developmental delay	170302	ARX	OMIM:308350
HP:0001263	Global developmental delay	170302	ARX	OMIM:300004
HP:0001263	Global developmental delay	170302	ARX	ORPHA:452
HP:0001263	Global developmental delay	6326	SCN2A	ORPHA:1934
HP:0001263	Global developmental delay	6326	SCN2A	OMIM:613721
HP:0001263	Global developmental delay	51227	PIGP	ORPHA:1934
HP:0001263	Global developmental delay	51227	PIGP	OMIM:617599
HP:0001263	Global developmental delay	8803	SUCLA2	ORPHA:1933
HP:0001263	Global developmental delay	10456	HAX1	OMIM:610738
HP:0001263	Global developmental delay	2737	GLI3	ORPHA:672
HP:0001263	Global developmental delay	2737	GLI3	OMIM:175700
HP:0001263	Global developmental delay	2737	GLI3	OMIM:146510
HP:0001263	Global developmental delay	3912	LAMB1	OMIM:615191
HP:0001263	Global developmental delay	51750	RTEL1	OMIM:615190
HP:0001263	Global developmental delay	51750	RTEL1	ORPHA:3322
HP:0001263	Global developmental delay	51750	RTEL1	ORPHA:1775
HP:0001263	Global developmental delay	4728	NDUFS8	OMIM:618222
HP:0001263	Global developmental delay	4728	NDUFS8	ORPHA:255241
HP:0001263	Global developmental delay	4728	NDUFS8	ORPHA:2609
HP:0001263	Global developmental delay	4723	NDUFV1	OMIM:618225
HP:0001263	Global developmental delay	4723	NDUFV1	ORPHA:255241
HP:0001263	Global developmental delay	4723	NDUFV1	ORPHA:2609
HP:0001263	Global developmental delay	30000	TNPO2	OMIM:619556
HP:0001263	Global developmental delay	79705	LRRK1	OMIM:615198
HP:0001263	Global developmental delay	57102	C12orf4	OMIM:618221
HP:0001263	Global developmental delay	4719	NDUFS1	OMIM:618226
HP:0001263	Global developmental delay	4719	NDUFS1	ORPHA:255241
HP:0001263	Global developmental delay	4719	NDUFS1	ORPHA:2609
HP:0001263	Global developmental delay	55628	ZNF407	OMIM:619557
HP:0001263	Global developmental delay	8818	DPM2	ORPHA:329178
HP:0001263	Global developmental delay	8818	DPM2	OMIM:615042
HP:0001263	Global developmental delay	4720	NDUFS2	OMIM:618228
HP:0001263	Global developmental delay	4720	NDUFS2	ORPHA:255241
HP:0001263	Global developmental delay	4720	NDUFS2	ORPHA:2609
HP:0001263	Global developmental delay	4720	NDUFS2	ORPHA:70474
HP:0001263	Global developmental delay	2627	GATA6	OMIM:600001
HP:0001263	Global developmental delay	2627	GATA6	OMIM:217095
HP:0001263	Global developmental delay	11160	ERLIN2	ORPHA:209951
HP:0001263	Global developmental delay	55869	HDAC8	OMIM:300882
HP:0001263	Global developmental delay	55869	HDAC8	ORPHA:3459
HP:0001263	Global developmental delay	1349	COX7B	OMIM:300887
HP:0001263	Global developmental delay	1349	COX7B	ORPHA:2556
HP:0001263	Global developmental delay	1349	COX7B	OMIM:309801
HP:0001263	Global developmental delay	91942	NDUFAF2	OMIM:618233
HP:0001263	Global developmental delay	91942	NDUFAF2	ORPHA:255241
HP:0001263	Global developmental delay	91942	NDUFAF2	ORPHA:2609
HP:0001263	Global developmental delay	650	BMP2	ORPHA:261295
HP:0001263	Global developmental delay	1193	CLIC2	OMIM:300886
HP:0001263	Global developmental delay	1193	CLIC2	ORPHA:324410
HP:0001263	Global developmental delay	6514	SLC2A2	OMIM:227810
HP:0001263	Global developmental delay	51103	NDUFAF1	OMIM:618234
HP:0001263	Global developmental delay	51103	NDUFAF1	ORPHA:2609
HP:0001263	Global developmental delay	56521	DNAJC12	OMIM:617384
HP:0001263	Global developmental delay	100151683	RNU4ATAC	OMIM:226960
HP:0001263	Global developmental delay	100151683	RNU4ATAC	OMIM:616651
HP:0001263	Global developmental delay	100151683	RNU4ATAC	ORPHA:2636
HP:0001263	Global developmental delay	4695	NDUFA2	OMIM:618235
HP:0001263	Global developmental delay	4695	NDUFA2	ORPHA:255241
HP:0001263	Global developmental delay	79868	ALG13	OMIM:300884
HP:0001263	Global developmental delay	126328	NDUFA11	OMIM:618236
HP:0001263	Global developmental delay	126328	NDUFA11	ORPHA:2609
HP:0001263	Global developmental delay	51119	SBDS	OMIM:260400
HP:0001263	Global developmental delay	9342	SNAP29	ORPHA:66631
HP:0001263	Global developmental delay	9342	SNAP29	OMIM:609528
HP:0001263	Global developmental delay	219854	TMEM218	OMIM:619562
HP:0001263	Global developmental delay	219854	TMEM218	ORPHA:475
HP:0001263	Global developmental delay	79133	NDUFAF5	OMIM:618238
HP:0001263	Global developmental delay	79133	NDUFAF5	ORPHA:255241
HP:0001263	Global developmental delay	79133	NDUFAF5	ORPHA:2609
HP:0001263	Global developmental delay	137682	NDUFAF6	OMIM:618239
HP:0001263	Global developmental delay	137682	NDUFAF6	ORPHA:255241
HP:0001263	Global developmental delay	2067	ERCC1	OMIM:610758
HP:0001263	Global developmental delay	2710	GK	OMIM:307030
HP:0001263	Global developmental delay	9179	AP4M1	OMIM:612936
HP:0001263	Global developmental delay	9179	AP4M1	ORPHA:280763
HP:0001263	Global developmental delay	9126	SMC3	OMIM:610759
HP:0001263	Global developmental delay	10166	SLC25A15	OMIM:238970
HP:0001263	Global developmental delay	6904	TBCD	ORPHA:496641
HP:0001263	Global developmental delay	6904	TBCD	OMIM:617193
HP:0001263	Global developmental delay	4976	OPA1	ORPHA:98673
HP:0001263	Global developmental delay	351	APP	ORPHA:324703
HP:0001263	Global developmental delay	1741	DLG3	OMIM:300850
HP:0001263	Global developmental delay	3192	HNRNPU	OMIM:617391
HP:0001263	Global developmental delay	3192	HNRNPU	ORPHA:238769
HP:0001263	Global developmental delay	57551	TAOK1	OMIM:619575
HP:0001263	Global developmental delay	56915	EXOSC5	OMIM:619576
HP:0001263	Global developmental delay	22796	COG2	OMIM:617395
HP:0001263	Global developmental delay	4709	NDUFB3	OMIM:618246
HP:0001263	Global developmental delay	4709	NDUFB3	ORPHA:2609
HP:0001263	Global developmental delay	112939	NACC1	OMIM:617393
HP:0001263	Global developmental delay	112939	NACC1	ORPHA:500545
HP:0001263	Global developmental delay	25915	NDUFAF3	OMIM:618240
HP:0001263	Global developmental delay	25915	NDUFAF3	ORPHA:2609
HP:0001263	Global developmental delay	25915	NDUFAF3	ORPHA:70474
HP:0001263	Global developmental delay	55572	FOXRED1	OMIM:618241
HP:0001263	Global developmental delay	55572	FOXRED1	ORPHA:255241
HP:0001263	Global developmental delay	55572	FOXRED1	ORPHA:2609
HP:0001263	Global developmental delay	80224	NUBPL	OMIM:618242
HP:0001263	Global developmental delay	80224	NUBPL	ORPHA:2609
HP:0001263	Global developmental delay	8260	NAA10	OMIM:300855
HP:0001263	Global developmental delay	8260	NAA10	ORPHA:276432
HP:0001263	Global developmental delay	4705	NDUFA10	OMIM:618243
HP:0001263	Global developmental delay	4705	NDUFA10	ORPHA:255241
HP:0001263	Global developmental delay	2664	GDI1	OMIM:300849
HP:0001263	Global developmental delay	5831	PYCR1	OMIM:612940
HP:0001263	Global developmental delay	5831	PYCR1	ORPHA:2078
HP:0001263	Global developmental delay	123263	MTFMT	OMIM:618248
HP:0001263	Global developmental delay	123263	MTFMT	OMIM:614947
HP:0001263	Global developmental delay	123263	MTFMT	ORPHA:255241
HP:0001263	Global developmental delay	51079	NDUFA13	OMIM:618249
HP:0001263	Global developmental delay	51079	NDUFA13	ORPHA:255241
HP:0001263	Global developmental delay	116442	RAB39B	OMIM:311510
HP:0001263	Global developmental delay	116442	RAB39B	OMIM:300271
HP:0001263	Global developmental delay	23203	PMPCA	OMIM:213200
HP:0001263	Global developmental delay	23203	PMPCA	ORPHA:1170
HP:0001263	Global developmental delay	4864	NPC1	OMIM:257220
HP:0001263	Global developmental delay	56652	TWNK	OMIM:609286
HP:0001263	Global developmental delay	8604	SLC25A12	OMIM:612949
HP:0001263	Global developmental delay	2898	GRIK2	OMIM:619580
HP:0001263	Global developmental delay	2898	GRIK2	OMIM:611092
HP:0001263	Global developmental delay	10483	SEC23B	ORPHA:201
HP:0001263	Global developmental delay	6391	SDHC	ORPHA:201
HP:0001263	Global developmental delay	207	AKT1	ORPHA:201
HP:0001263	Global developmental delay	205717	USF3	ORPHA:201
HP:0001263	Global developmental delay	100144748	KLLN	ORPHA:201
HP:0001263	Global developmental delay	10524	KAT5	OMIM:619103
HP:0001263	Global developmental delay	9451	EIF2AK3	OMIM:226980
HP:0001263	Global developmental delay	9451	EIF2AK3	ORPHA:1667
HP:0001263	Global developmental delay	51300	TIMMDC1	OMIM:618251
HP:0001263	Global developmental delay	51300	TIMMDC1	ORPHA:2609
HP:0001263	Global developmental delay	80173	IFT74	OMIM:619582
HP:0001263	Global developmental delay	5277	PIGA	OMIM:300868
HP:0001263	Global developmental delay	5277	PIGA	OMIM:301072
HP:0001263	Global developmental delay	4714	NDUFB8	OMIM:618252
HP:0001263	Global developmental delay	4714	NDUFB8	ORPHA:70474
HP:0001263	Global developmental delay	7403	KDM6A	OMIM:300867
HP:0001263	Global developmental delay	7403	KDM6A	OMIM:147920
HP:0001263	Global developmental delay	4700	NDUFA6	OMIM:618253
HP:0001263	Global developmental delay	4700	NDUFA6	ORPHA:2609
HP:0001263	Global developmental delay	26040	SETBP1	OMIM:616078
HP:0001263	Global developmental delay	23384	SPECC1L	OMIM:145420
HP:0001263	Global developmental delay	6023	RMRP	OMIM:607095
HP:0001263	Global developmental delay	8635	RNASET2	OMIM:612951
HP:0001263	Global developmental delay	2683	B4GALT1	OMIM:607091
HP:0001263	Global developmental delay	4990	SIX6	OMIM:206900
HP:0001263	Global developmental delay	10771	ZMYND11	OMIM:616083
HP:0001263	Global developmental delay	11340	EXOSC8	OMIM:616081
HP:0001263	Global developmental delay	11340	EXOSC8	ORPHA:2254
HP:0001263	Global developmental delay	50814	NSDHL	OMIM:300831
HP:0001263	Global developmental delay	50814	NSDHL	ORPHA:251383
HP:0001263	Global developmental delay	3975	LHX1	ORPHA:261265
HP:0001263	Global developmental delay	6928	HNF1B	ORPHA:261265
HP:0001263	Global developmental delay	6928	HNF1B	ORPHA:93111
HP:0001263	Global developmental delay	51095	TRNT1	OMIM:616084
HP:0001263	Global developmental delay	4983	OPHN1	ORPHA:137831
HP:0001263	Global developmental delay	4983	OPHN1	OMIM:300486
HP:0001263	Global developmental delay	51091	SEPSECS	OMIM:613811
HP:0001263	Global developmental delay	1528	CYB5A	ORPHA:621
HP:0001263	Global developmental delay	1727	CYB5R3	ORPHA:621
HP:0001263	Global developmental delay	1727	CYB5R3	OMIM:250800
HP:0001263	Global developmental delay	2132	EXT2	ORPHA:52022
HP:0001263	Global developmental delay	2132	EXT2	ORPHA:466926
HP:0001263	Global developmental delay	2132	EXT2	OMIM:616682
HP:0001263	Global developmental delay	23405	DICER1	OMIM:618272
HP:0001263	Global developmental delay	113189	CHST14	OMIM:601776
HP:0001263	Global developmental delay	22978	NT5C2	ORPHA:320396
HP:0001263	Global developmental delay	2571	GAD1	OMIM:619124
HP:0001263	Global developmental delay	90522	YIF1B	OMIM:619125
HP:0001263	Global developmental delay	374354	NHLRC2	OMIM:618278
HP:0001263	Global developmental delay	6566	SLC16A1	OMIM:616095
HP:0001263	Global developmental delay	22983	MAST1	OMIM:618273
HP:0001263	Global developmental delay	55755	CDK5RAP2	OMIM:604804
HP:0001263	Global developmental delay	55755	CDK5RAP2	ORPHA:2512
HP:0001263	Global developmental delay	90416	CCDC32	OMIM:619123
HP:0001263	Global developmental delay	23287	AGTPBP1	OMIM:618276
HP:0001263	Global developmental delay	23287	AGTPBP1	ORPHA:2254
HP:0001263	Global developmental delay	64093	SMOC1	OMIM:206920
HP:0001263	Global developmental delay	9895	TECPR2	ORPHA:320385
HP:0001263	Global developmental delay	9895	TECPR2	OMIM:615031
HP:0001263	Global developmental delay	4668	NAGA	OMIM:609241
HP:0001263	Global developmental delay	4668	NAGA	ORPHA:79281
HP:0001263	Global developmental delay	4668	NAGA	ORPHA:79279
HP:0001263	Global developmental delay	9487	PIGL	OMIM:280000
HP:0001263	Global developmental delay	9487	PIGL	ORPHA:247262
HP:0001263	Global developmental delay	23259	DDHD2	ORPHA:320380
HP:0001263	Global developmental delay	23259	DDHD2	OMIM:615033
HP:0001263	Global developmental delay	2581	GALC	ORPHA:206436
HP:0001263	Global developmental delay	5660	PSAP	ORPHA:206436
HP:0001263	Global developmental delay	5660	PSAP	OMIM:249900
HP:0001263	Global developmental delay	1719	DHFR	OMIM:613839
HP:0001263	Global developmental delay	1795	DOCK3	OMIM:618292
HP:0001263	Global developmental delay	79644	SRD5A3	ORPHA:324737
HP:0001263	Global developmental delay	79644	SRD5A3	OMIM:612379
HP:0001263	Global developmental delay	80704	SLC19A3	ORPHA:263410
HP:0001263	Global developmental delay	80704	SLC19A3	OMIM:607483
HP:0001263	Global developmental delay	80704	SLC19A3	ORPHA:255241
HP:0001263	Global developmental delay	3735	KARS1	OMIM:619147
HP:0001263	Global developmental delay	3735	KARS1	OMIM:613641
HP:0001263	Global developmental delay	8665	EIF3F	OMIM:618295
HP:0001263	Global developmental delay	9652	SKIC3	ORPHA:84064
HP:0001263	Global developmental delay	6499	SKIC2	ORPHA:84064
HP:0001263	Global developmental delay	54938	SARS2	OMIM:613845
HP:0001263	Global developmental delay	26275	HIBCH	OMIM:250620
HP:0001263	Global developmental delay	11005	SPINK5	ORPHA:634
HP:0001263	Global developmental delay	11005	SPINK5	OMIM:256500
HP:0001263	Global developmental delay	4594	MMUT	ORPHA:289916
HP:0001263	Global developmental delay	4594	MMUT	OMIM:251000
HP:0001263	Global developmental delay	4594	MMUT	ORPHA:79312
HP:0001263	Global developmental delay	199857	ALG14	OMIM:619031
HP:0001263	Global developmental delay	10134	BCAP31	OMIM:300475
HP:0001263	Global developmental delay	25970	SH2B1	ORPHA:261222
HP:0001263	Global developmental delay	25970	SH2B1	ORPHA:261197
HP:0001263	Global developmental delay	91574	MTRFR	ORPHA:254930
HP:0001263	Global developmental delay	91574	MTRFR	OMIM:615035
HP:0001263	Global developmental delay	91574	MTRFR	OMIM:613559
HP:0001263	Global developmental delay	10262	SF3B4	OMIM:154400
HP:0001263	Global developmental delay	9871	SEC24D	ORPHA:2050
HP:0001263	Global developmental delay	9871	SEC24D	OMIM:616294
HP:0001263	Global developmental delay	375	ARF1	OMIM:618185
HP:0001263	Global developmental delay	23019	CNOT1	OMIM:619033
HP:0001263	Global developmental delay	23019	CNOT1	OMIM:618500
HP:0001263	Global developmental delay	83700	JAM3	OMIM:613730
HP:0001263	Global developmental delay	5894	RAF1	OMIM:611553
HP:0001263	Global developmental delay	5894	RAF1	ORPHA:500
HP:0001263	Global developmental delay	95	ACY1	ORPHA:137754
HP:0001263	Global developmental delay	95	ACY1	OMIM:609924
HP:0001263	Global developmental delay	145173	B3GLCT	ORPHA:709
HP:0001263	Global developmental delay	145173	B3GLCT	OMIM:261540
HP:0001263	Global developmental delay	7109	TRAPPC10	OMIM:620027
HP:0001263	Global developmental delay	7109	TRAPPC10	ORPHA:2512
HP:0001263	Global developmental delay	55325	UFSP2	OMIM:620028
HP:0001263	Global developmental delay	10274	STAG1	ORPHA:502434
HP:0001263	Global developmental delay	10274	STAG1	OMIM:617635
HP:0001263	Global developmental delay	4774	NFIA	OMIM:613735
HP:0001263	Global developmental delay	4774	NFIA	ORPHA:401986
HP:0001263	Global developmental delay	8496	PPFIBP1	OMIM:620024
HP:0001263	Global developmental delay	5111	PCNA	OMIM:615919
HP:0001263	Global developmental delay	5111	PCNA	ORPHA:438134
HP:0001263	Global developmental delay	118987	PDZD8	OMIM:620021
HP:0001263	Global developmental delay	4758	NEU1	ORPHA:93399
HP:0001263	Global developmental delay	4758	NEU1	ORPHA:93400
HP:0001263	Global developmental delay	57176	VARS2	OMIM:615917
HP:0001263	Global developmental delay	80222	TARS2	OMIM:615918
HP:0001263	Global developmental delay	501	ALDH7A1	OMIM:266100
HP:0001263	Global developmental delay	6531	SLC6A3	ORPHA:238455
HP:0001263	Global developmental delay	6531	SLC6A3	OMIM:613135
HP:0001263	Global developmental delay	4281	MID1	OMIM:300000
HP:0001263	Global developmental delay	162	AP1B1	OMIM:242150
HP:0001263	Global developmental delay	3141	HLCS	OMIM:253270
HP:0001263	Global developmental delay	55163	PNPO	ORPHA:79096
HP:0001263	Global developmental delay	55163	PNPO	OMIM:610090
HP:0001263	Global developmental delay	5689	PSMB1	OMIM:620038
HP:0001263	Global developmental delay	23431	AP4E1	OMIM:613744
HP:0001263	Global developmental delay	23431	AP4E1	ORPHA:280763
HP:0001263	Global developmental delay	25782	RAB3GAP2	OMIM:212720
HP:0001263	Global developmental delay	25782	RAB3GAP2	OMIM:614225
HP:0001263	Global developmental delay	25782	RAB3GAP2	ORPHA:401830
HP:0001263	Global developmental delay	25782	RAB3GAP2	ORPHA:2510
HP:0001263	Global developmental delay	10472	ZBTB18	ORPHA:36367
HP:0001263	Global developmental delay	10472	ZBTB18	OMIM:612337
HP:0001263	Global developmental delay	63908	NAPB	OMIM:620033
HP:0001263	Global developmental delay	28958	COA3	OMIM:619058
HP:0001263	Global developmental delay	1351	COX8A	OMIM:619059
HP:0001263	Global developmental delay	9739	SETD1A	OMIM:619056
HP:0001263	Global developmental delay	9739	SETD1A	OMIM:618832
HP:0001263	Global developmental delay	191	AHCY	OMIM:613752
HP:0001263	Global developmental delay	191	AHCY	ORPHA:88618
HP:0001263	Global developmental delay	340024	SLC6A19	OMIM:234500
HP:0001263	Global developmental delay	340024	SLC6A19	ORPHA:2116
HP:0001263	Global developmental delay	686	BTD	OMIM:253260
HP:0001263	Global developmental delay	686	BTD	ORPHA:79241
HP:0001263	Global developmental delay	6575	SLC20A2	OMIM:213600
HP:0001263	Global developmental delay	5155	PDGFB	OMIM:213600
HP:0001263	Global developmental delay	5159	PDGFRB	OMIM:213600
HP:0001263	Global developmental delay	5159	PDGFRB	OMIM:601812
HP:0001263	Global developmental delay	10015	PDCD6IP	OMIM:620047
HP:0001263	Global developmental delay	894	CCND2	OMIM:615938
HP:0001263	Global developmental delay	8289	ARID1A	OMIM:614607
HP:0001263	Global developmental delay	7840	ALMS1	OMIM:203800
HP:0001263	Global developmental delay	5428	POLG	ORPHA:726
HP:0001263	Global developmental delay	5428	POLG	OMIM:203700
HP:0001263	Global developmental delay	5428	POLG	OMIM:613662
HP:0001263	Global developmental delay	7080	NKX2-1	ORPHA:209905
HP:0001263	Global developmental delay	7080	NKX2-1	OMIM:610978
HP:0001263	Global developmental delay	7080	NKX2-1	ORPHA:95713
HP:0001263	Global developmental delay	6598	SMARCB1	OMIM:614608
HP:0001263	Global developmental delay	6597	SMARCA4	OMIM:614609
HP:0001263	Global developmental delay	79087	ALG12	OMIM:607143
HP:0001263	Global developmental delay	4212	MEIS2	OMIM:600987
HP:0001263	Global developmental delay	4212	MEIS2	ORPHA:261190
HP:0001263	Global developmental delay	26053	AUTS2	ORPHA:352490
HP:0001263	Global developmental delay	26053	AUTS2	OMIM:615834
HP:0001263	Global developmental delay	10352	WARS2	ORPHA:572798
HP:0001263	Global developmental delay	10352	WARS2	OMIM:617710
HP:0001263	Global developmental delay	124512	METTL23	OMIM:615942
HP:0001263	Global developmental delay	26005	C2CD3	OMIM:615948
HP:0001263	Global developmental delay	26005	C2CD3	ORPHA:434179
HP:0001263	Global developmental delay	9152	SLC6A5	OMIM:614618
HP:0001263	Global developmental delay	5230	PGK1	ORPHA:713
HP:0001263	Global developmental delay	5230	PGK1	OMIM:300653
HP:0001263	Global developmental delay	3265	HRAS	OMIM:218040
HP:0001263	Global developmental delay	1174	AP1S1	OMIM:609313
HP:0001263	Global developmental delay	23265	EXOC7	OMIM:619072
HP:0001263	Global developmental delay	1802	DPH2	OMIM:620062
HP:0001263	Global developmental delay	2615	LRRC32	OMIM:619074
HP:0001263	Global developmental delay	4953	ODC1	OMIM:619075
HP:0001263	Global developmental delay	4953	ODC1	ORPHA:544488
HP:0001263	Global developmental delay	5091	PC	OMIM:266150
HP:0001263	Global developmental delay	6660	SOX5	OMIM:616803
HP:0001263	Global developmental delay	81031	SLC2A10	ORPHA:3342
HP:0001263	Global developmental delay	9719	ADAMTSL2	OMIM:231050
HP:0001263	Global developmental delay	22859	ADGRL1	OMIM:620065
HP:0001263	Global developmental delay	83475	DOHH	OMIM:620066
HP:0001263	Global developmental delay	6609	SMPD1	OMIM:257200
HP:0001263	Global developmental delay	84992	PIGY	OMIM:616809
HP:0001263	Global developmental delay	84992	PIGY	ORPHA:247262
HP:0001263	Global developmental delay	6558	SLC12A2	OMIM:619083
HP:0001263	Global developmental delay	6558	SLC12A2	OMIM:619081
HP:0001263	Global developmental delay	10236	HNRNPR	OMIM:620073
HP:0001263	Global developmental delay	51611	DPH5	OMIM:620070
HP:0001263	Global developmental delay	79813	EHMT1	ORPHA:261652
HP:0001263	Global developmental delay	79813	EHMT1	ORPHA:96147
HP:0001263	Global developmental delay	58508	KMT2C	ORPHA:261652
HP:0001263	Global developmental delay	58508	KMT2C	OMIM:617768
HP:0001263	Global developmental delay	255928	SYT14	ORPHA:284271
HP:0001263	Global developmental delay	255928	SYT14	OMIM:614229
HP:0001263	Global developmental delay	25828	TXN2	OMIM:616811
HP:0001263	Global developmental delay	7443	VRK1	OMIM:607596
HP:0001263	Global developmental delay	7443	VRK1	ORPHA:2254
HP:0001263	Global developmental delay	51244	CCDC174	OMIM:616816
HP:0001263	Global developmental delay	54862	CC2D1A	OMIM:608443
HP:0001263	Global developmental delay	3187	HNRNPH1	OMIM:620083
HP:0001263	Global developmental delay	4920	ROR2	OMIM:268310
HP:0001263	Global developmental delay	11152	WDR45	OMIM:300894
HP:0001263	Global developmental delay	11152	WDR45	ORPHA:329284
HP:0001263	Global developmental delay	4677	NARS1	OMIM:619091
HP:0001263	Global developmental delay	4677	NARS1	OMIM:619092
HP:0001263	Global developmental delay	9080	CLDN9	OMIM:619093
HP:0001263	Global developmental delay	7355	SLC35A2	OMIM:300896
HP:0001263	Global developmental delay	7355	SLC35A2	ORPHA:356961
HP:0001263	Global developmental delay	9968	MED12	OMIM:300895
HP:0001263	Global developmental delay	9968	MED12	ORPHA:93932
HP:0001263	Global developmental delay	9968	MED12	OMIM:305450
HP:0001263	Global developmental delay	9147	NEMF	OMIM:619099
HP:0001263	Global developmental delay	8195	MKKS	ORPHA:2473
HP:0001263	Global developmental delay	147007	TMEM199	OMIM:616829
HP:0001263	Global developmental delay	84317	CCDC115	OMIM:616828
HP:0001263	Global developmental delay	5073	PARN	ORPHA:3322
HP:0001263	Global developmental delay	5073	PARN	OMIM:616353
HP:0001263	Global developmental delay	5073	PARN	ORPHA:1775
HP:0001263	Global developmental delay	7015	TERT	ORPHA:3322
HP:0001263	Global developmental delay	7015	TERT	OMIM:613989
HP:0001263	Global developmental delay	7015	TERT	ORPHA:1775
HP:0001263	Global developmental delay	26277	TINF2	ORPHA:3322
HP:0001263	Global developmental delay	26277	TINF2	OMIM:268130
HP:0001263	Global developmental delay	26277	TINF2	ORPHA:1775
HP:0001263	Global developmental delay	1736	DKC1	ORPHA:3322
HP:0001263	Global developmental delay	1736	DKC1	OMIM:305000
HP:0001263	Global developmental delay	1736	DKC1	ORPHA:1775
HP:0001263	Global developmental delay	92154	MTSS2	OMIM:620086
HP:0001263	Global developmental delay	84978	FRMD5	OMIM:620094
HP:0001263	Global developmental delay	10159	ATP6AP2	OMIM:300423
HP:0001263	Global developmental delay	9775	EIF4A3	OMIM:268305
HP:0001263	Global developmental delay	113612	CYP2U1	ORPHA:320411
HP:0001263	Global developmental delay	583	BBS2	OMIM:615981
HP:0001263	Global developmental delay	2702	GJA5	OMIM:612474
HP:0001263	Global developmental delay	2703	GJA8	OMIM:612474
HP:0001263	Global developmental delay	57017	COQ9	OMIM:614654
HP:0001263	Global developmental delay	51025	PAM16	OMIM:613320
HP:0001263	Global developmental delay	80199	FUZ	ORPHA:1136
HP:0001263	Global developmental delay	55690	PACS1	ORPHA:329224
HP:0001263	Global developmental delay	55690	PACS1	OMIM:615009
HP:0001263	Global developmental delay	10664	CTCF	OMIM:615502
HP:0001263	Global developmental delay	6307	MSMO1	OMIM:616834
HP:0001263	Global developmental delay	27241	BBS9	OMIM:615986
HP:0001263	Global developmental delay	79738	BBS10	OMIM:615987
HP:0001263	Global developmental delay	1828	DSG1	OMIM:615508
HP:0001263	Global developmental delay	90417	KNSTRN	OMIM:613328
HP:0001263	Global developmental delay	90417	KNSTRN	ORPHA:221139
HP:0001263	Global developmental delay	5293	PIK3CD	OMIM:613328
HP:0001263	Global developmental delay	5293	PIK3CD	ORPHA:221139
HP:0001263	Global developmental delay	3720	JARID2	OMIM:620098
HP:0001263	Global developmental delay	865	CBFB	OMIM:620099
HP:0001263	Global developmental delay	1738	DLD	OMIM:246900
HP:0001263	Global developmental delay	9780	PIEZO1	OMIM:616843
HP:0001263	Global developmental delay	7167	TPI1	OMIM:615512
HP:0001263	Global developmental delay	29926	GMPPA	OMIM:615510
HP:0001263	Global developmental delay	54585	LZTFL1	OMIM:615994
HP:0001263	Global developmental delay	6712	SPTBN2	ORPHA:352403
HP:0001263	Global developmental delay	6712	SPTBN2	OMIM:615386
HP:0001263	Global developmental delay	6712	SPTBN2	OMIM:600224
HP:0001263	Global developmental delay	113179	ADAT3	ORPHA:363528
HP:0001263	Global developmental delay	549	AUH	ORPHA:67046
HP:0001263	Global developmental delay	549	AUH	OMIM:250950
HP:0001263	Global developmental delay	3313	HSPA9	OMIM:616854
HP:0001263	Global developmental delay	22880	MORC2	ORPHA:466768
HP:0001263	Global developmental delay	22880	MORC2	OMIM:616688
HP:0001263	Global developmental delay	55784	MCTP2	ORPHA:1596
HP:0001263	Global developmental delay	56997	COQ8A	OMIM:612016
HP:0001263	Global developmental delay	51010	EXOSC3	OMIM:614678
HP:0001263	Global developmental delay	51010	EXOSC3	ORPHA:2254
HP:0001263	Global developmental delay	6301	SARS1	OMIM:617709
HP:0001263	Global developmental delay	26224	FBXL3	OMIM:606220
HP:0001263	Global developmental delay	11253	MAN1B1	OMIM:614202
HP:0001263	Global developmental delay	11253	MAN1B1	ORPHA:397941
HP:0001263	Global developmental delay	7874	USP7	OMIM:616863
HP:0001263	Global developmental delay	7874	USP7	ORPHA:500055
HP:0001263	Global developmental delay	27315	PGAP2	OMIM:614207
HP:0001263	Global developmental delay	27315	PGAP2	ORPHA:247262
HP:0001263	Global developmental delay	51008	ASCC1	OMIM:616867
HP:0001263	Global developmental delay	9325	TRIP4	OMIM:616866
HP:0001263	Global developmental delay	1105	CHD1	ORPHA:529965
HP:0001263	Global developmental delay	1105	CHD1	OMIM:617682
HP:0001263	Global developmental delay	84342	COG8	OMIM:611182
HP:0001263	Global developmental delay	80185	TTI2	OMIM:615541
HP:0001263	Global developmental delay	80185	TTI2	ORPHA:391307
HP:0001263	Global developmental delay	3758	KCNJ1	OMIM:241200
HP:0001263	Global developmental delay	23065	EMC1	OMIM:616875
HP:0001263	Global developmental delay	23065	EMC1	ORPHA:480898
HP:0001263	Global developmental delay	79633	FAT4	OMIM:615546
HP:0001263	Global developmental delay	79633	FAT4	ORPHA:314679
HP:0001263	Global developmental delay	55644	OSGEP	OMIM:617729
HP:0001263	Global developmental delay	55644	OSGEP	ORPHA:2065
HP:0001263	Global developmental delay	57572	DOCK6	OMIM:614219
HP:0001263	Global developmental delay	4644	MYO5A	ORPHA:79476
HP:0001263	Global developmental delay	4644	MYO5A	ORPHA:33445
HP:0001263	Global developmental delay	4644	MYO5A	OMIM:214450
HP:0001263	Global developmental delay	7074	TIAM1	OMIM:619908
HP:0001263	Global developmental delay	59336	PRDM13	OMIM:619909
HP:0001263	Global developmental delay	59336	PRDM13	OMIM:619761
HP:0001263	Global developmental delay	2464	FRA16E	OMIM:136570
HP:0001263	Global developmental delay	112858	TP53RK	OMIM:617730
HP:0001263	Global developmental delay	112858	TP53RK	ORPHA:2065
HP:0001263	Global developmental delay	51501	HIKESHI	OMIM:616881
HP:0001263	Global developmental delay	163786	SASS6	OMIM:616402
HP:0001263	Global developmental delay	163786	SASS6	ORPHA:2512
HP:0001263	Global developmental delay	22931	RAB18	OMIM:614222
HP:0001263	Global developmental delay	22931	RAB18	ORPHA:2510
HP:0001263	Global developmental delay	23443	SLC35A3	OMIM:615553
HP:0001263	Global developmental delay	51002	TPRKB	OMIM:617731
HP:0001263	Global developmental delay	51002	TPRKB	ORPHA:2065
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:614228
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:158600
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:614563
HP:0001263	Global developmental delay	490	ATP2B1	OMIM:619910
HP:0001263	Global developmental delay	4929	NR4A2	OMIM:619911
HP:0001263	Global developmental delay	4796	TONSL	ORPHA:93357
HP:0001263	Global developmental delay	6925	TCF4	ORPHA:2896
HP:0001263	Global developmental delay	26047	CNTNAP2	ORPHA:163681
HP:0001263	Global developmental delay	26047	CNTNAP2	OMIM:610042
HP:0001263	Global developmental delay	80055	PGAP1	ORPHA:401820
HP:0001263	Global developmental delay	80055	PGAP1	OMIM:615802
HP:0001263	Global developmental delay	51124	IER3IP1	OMIM:614231
HP:0001263	Global developmental delay	7204	TRIO	ORPHA:476126
HP:0001263	Global developmental delay	7204	TRIO	OMIM:618825
HP:0001263	Global developmental delay	83737	ITCH	OMIM:613385
HP:0001263	Global developmental delay	83737	ITCH	ORPHA:228426
HP:0001263	Global developmental delay	2890	GRIA1	OMIM:619927
HP:0001263	Global developmental delay	54805	CNNM2	OMIM:616418
HP:0001263	Global developmental delay	55164	SHQ1	OMIM:619921
HP:0001263	Global developmental delay	55164	SHQ1	OMIM:619922
HP:0001263	Global developmental delay	7291	TWIST1	OMIM:617746
HP:0001263	Global developmental delay	5495	PPM1B	ORPHA:163693
HP:0001263	Global developmental delay	6519	SLC3A1	ORPHA:163693
HP:0001263	Global developmental delay	9581	PREPL	ORPHA:163693
HP:0001263	Global developmental delay	79823	CAMKMT	ORPHA:163693
HP:0001263	Global developmental delay	3423	IDS	ORPHA:217093
HP:0001263	Global developmental delay	3423	IDS	ORPHA:217085
HP:0001263	Global developmental delay	29929	ALG6	OMIM:603147
HP:0001263	Global developmental delay	10717	AP4B1	ORPHA:280763
HP:0001263	Global developmental delay	10717	AP4B1	OMIM:614066
HP:0001263	Global developmental delay	11154	AP4S1	ORPHA:280763
HP:0001263	Global developmental delay	11154	AP4S1	OMIM:614067
HP:0001263	Global developmental delay	9320	TRIP12	OMIM:617752
HP:0001263	Global developmental delay	29920	PYCR2	OMIM:616420
HP:0001263	Global developmental delay	29920	PYCR2	ORPHA:2512
HP:0001263	Global developmental delay	5538	PPT1	OMIM:256730
HP:0001263	Global developmental delay	1663	DDX11	OMIM:613398
HP:0001263	Global developmental delay	5455	POU3F3	OMIM:618604
HP:0001263	Global developmental delay	2186	BPTF	OMIM:617755
HP:0001263	Global developmental delay	51684	SUFU	OMIM:617757
HP:0001263	Global developmental delay	51684	SUFU	ORPHA:475
HP:0001263	Global developmental delay	9757	KMT2B	OMIM:619934
HP:0001263	Global developmental delay	9757	KMT2B	OMIM:617284
HP:0001263	Global developmental delay	57410	SCYL1	ORPHA:466794
HP:0001263	Global developmental delay	51663	ZFR	ORPHA:401840
HP:0001263	Global developmental delay	23404	EXOSC2	OMIM:617763
HP:0001263	Global developmental delay	92935	MARS2	OMIM:616430
HP:0001263	Global developmental delay	22827	PUF60	OMIM:615583
HP:0001263	Global developmental delay	22827	PUF60	ORPHA:508488
HP:0001263	Global developmental delay	10464	PIBF1	OMIM:617767
HP:0001263	Global developmental delay	10464	PIBF1	ORPHA:475
HP:0001263	Global developmental delay	2036	EPB41L1	OMIM:614257
HP:0001263	Global developmental delay	26235	FBXL4	OMIM:615471
HP:0001263	Global developmental delay	776	CACNA1D	OMIM:615474
HP:0001263	Global developmental delay	776	CACNA1D	ORPHA:369929
HP:0001263	Global developmental delay	23135	KDM6B	OMIM:618505
HP:0001263	Global developmental delay	6659	SOX4	OMIM:618506
HP:0001263	Global developmental delay	55823	VPS11	ORPHA:466934
HP:0001263	Global developmental delay	55823	VPS11	OMIM:616683
HP:0001263	Global developmental delay	4897	NRCAM	OMIM:619833
HP:0001263	Global developmental delay	84334	COA8	ORPHA:436271
HP:0001263	Global developmental delay	81570	CLPB	OMIM:619835
HP:0001263	Global developmental delay	81570	CLPB	OMIM:619813
HP:0001263	Global developmental delay	81570	CLPB	OMIM:616271
HP:0001263	Global developmental delay	91801	ALKBH8	OMIM:618504
HP:0001263	Global developmental delay	5457	POU4F1	ORPHA:314647
HP:0001263	Global developmental delay	5457	POU4F1	OMIM:619352
HP:0001263	Global developmental delay	51	ACOX1	ORPHA:2971
HP:0001263	Global developmental delay	4552	MTRR	OMIM:236270
HP:0001263	Global developmental delay	4552	MTRR	ORPHA:2169
HP:0001263	Global developmental delay	23498	HAAO	OMIM:617660
HP:0001263	Global developmental delay	9578	CDC42BPB	OMIM:619841
HP:0001263	Global developmental delay	65993	MRPS34	OMIM:617664
HP:0001263	Global developmental delay	80816	ASXL3	OMIM:615485
HP:0001263	Global developmental delay	80816	ASXL3	ORPHA:352577
HP:0001263	Global developmental delay	6616	SNAP25	OMIM:616330
HP:0001263	Global developmental delay	1841	DTYMK	OMIM:619847
HP:0001263	Global developmental delay	8239	USP9X	OMIM:300919
HP:0001263	Global developmental delay	8239	USP9X	OMIM:300968
HP:0001263	Global developmental delay	8239	USP9X	ORPHA:480880
HP:0001263	Global developmental delay	27229	TUBGCP4	OMIM:616335
HP:0001263	Global developmental delay	55904	KMT2E	OMIM:618512
HP:0001263	Global developmental delay	3149	HMGB3	OMIM:300915
HP:0001263	Global developmental delay	318	NUDT2	OMIM:619844
HP:0001263	Global developmental delay	57082	KNL1	OMIM:604321
HP:0001263	Global developmental delay	57082	KNL1	ORPHA:2512
HP:0001263	Global developmental delay	55636	CHD7	ORPHA:138
HP:0001263	Global developmental delay	55636	CHD7	OMIM:214800
HP:0001263	Global developmental delay	9723	SEMA3E	ORPHA:138
HP:0001263	Global developmental delay	55650	PIGV	OMIM:239300
HP:0001263	Global developmental delay	55650	PIGV	ORPHA:247262
HP:0001263	Global developmental delay	284403	WDR62	OMIM:604317
HP:0001263	Global developmental delay	284403	WDR62	ORPHA:2512
HP:0001263	Global developmental delay	288	ANK3	OMIM:615493
HP:0001263	Global developmental delay	23250	ATP11A	OMIM:619851
HP:0001263	Global developmental delay	818	CAMK2G	OMIM:618522
HP:0001263	Global developmental delay	5105	PCK1	OMIM:261680
HP:0001263	Global developmental delay	1020	CDK5	OMIM:616342
HP:0001263	Global developmental delay	7343	UBTF	OMIM:617672
HP:0001263	Global developmental delay	7343	UBTF	ORPHA:500180
HP:0001263	Global developmental delay	64359	NXN	OMIM:618529
HP:0001263	Global developmental delay	7994	KAT6A	ORPHA:457193
HP:0001263	Global developmental delay	7994	KAT6A	OMIM:616268
HP:0001263	Global developmental delay	2770	GNAI1	OMIM:619854
HP:0001263	Global developmental delay	79140	CCDC28B	OMIM:209900
HP:0001263	Global developmental delay	582	BBS1	OMIM:209900
HP:0001263	Global developmental delay	10087	CERT1	OMIM:616351
HP:0001263	Global developmental delay	26258	BLOC1S6	OMIM:614171
HP:0001263	Global developmental delay	5528	PPP2R5D	OMIM:616355
HP:0001263	Global developmental delay	5528	PPP2R5D	ORPHA:457279
HP:0001263	Global developmental delay	57231	SNX14	OMIM:616354
HP:0001263	Global developmental delay	23327	NEDD4L	OMIM:617201
HP:0001263	Global developmental delay	6905	TBCE	OMIM:617207
HP:0001263	Global developmental delay	6905	TBCE	ORPHA:496756
HP:0001263	Global developmental delay	10716	TBR1	ORPHA:1617
HP:0001263	Global developmental delay	10716	TBR1	OMIM:606053
HP:0001263	Global developmental delay	788	SLC25A20	ORPHA:159
HP:0001263	Global developmental delay	5518	PPP2R1A	OMIM:616362
HP:0001263	Global developmental delay	5518	PPP2R1A	ORPHA:457284
HP:0001263	Global developmental delay	23126	POGZ	OMIM:616364
HP:0001263	Global developmental delay	23126	POGZ	ORPHA:468678
HP:0001263	Global developmental delay	55773	TBC1D23	OMIM:617695
HP:0001263	Global developmental delay	57680	CHD8	OMIM:615032
HP:0001263	Global developmental delay	8558	CDK10	OMIM:617694
HP:0001263	Global developmental delay	92609	TIMM50	OMIM:617698
HP:0001263	Global developmental delay	51692	CPSF3	OMIM:619876
HP:0001263	Global developmental delay	3098	HK1	OMIM:618547
HP:0001263	Global developmental delay	5590	PRKCZ	ORPHA:1606
HP:0001263	Global developmental delay	2563	GABRD	ORPHA:1606
HP:0001263	Global developmental delay	23013	SPEN	ORPHA:1606
HP:0001263	Global developmental delay	23013	SPEN	OMIM:619312
HP:0001263	Global developmental delay	8510	MMP23B	ORPHA:1606
HP:0001263	Global developmental delay	7798	LUZP1	ORPHA:1606
HP:0001263	Global developmental delay	6497	SKI	ORPHA:1606
HP:0001263	Global developmental delay	6497	SKI	OMIM:182212
HP:0001263	Global developmental delay	10630	PDPN	ORPHA:1606
HP:0001263	Global developmental delay	3339	HSPG2	ORPHA:1606
HP:0001263	Global developmental delay	10277	UBE4B	ORPHA:1606
HP:0001263	Global developmental delay	8514	KCNAB2	ORPHA:1606
HP:0001263	Global developmental delay	63976	PRDM16	ORPHA:1606
HP:0001263	Global developmental delay	54897	CASZ1	ORPHA:1606
HP:0001263	Global developmental delay	1859	DYRK1A	ORPHA:464311
HP:0001263	Global developmental delay	1859	DYRK1A	ORPHA:268261
HP:0001263	Global developmental delay	285362	SUMF1	ORPHA:585
HP:0001263	Global developmental delay	285362	SUMF1	OMIM:272200
HP:0001263	Global developmental delay	55210	ATAD3A	ORPHA:496790
HP:0001263	Global developmental delay	55210	ATAD3A	OMIM:617183
HP:0001263	Global developmental delay	55210	ATAD3A	OMIM:618810
HP:0001263	Global developmental delay	9276	COPB2	OMIM:619884
HP:0001263	Global developmental delay	9276	COPB2	ORPHA:2512
HP:0001263	Global developmental delay	4285	MIPEP	OMIM:617228
HP:0001263	Global developmental delay	10531	PITRM1	OMIM:619405
HP:0001263	Global developmental delay	23007	PLCH1	OMIM:619895
HP:0001263	Global developmental delay	3798	KIF5A	OMIM:617235
HP:0001263	Global developmental delay	57679	ALS2	OMIM:205100
HP:0001263	Global developmental delay	57679	ALS2	ORPHA:300605
HP:0001263	Global developmental delay	64919	BCL11B	OMIM:617237
HP:0001263	Global developmental delay	64919	BCL11B	OMIM:618092
HP:0001263	Global developmental delay	2720	GLB1	OMIM:230500
HP:0001263	Global developmental delay	2720	GLB1	ORPHA:79255
HP:0001263	Global developmental delay	29960	MRM2	OMIM:618567
HP:0001263	Global developmental delay	205327	C2orf69	OMIM:619423
HP:0001263	Global developmental delay	5881	RAC3	OMIM:618577
HP:0001263	Global developmental delay	26173	INTS1	OMIM:618571
HP:0001263	Global developmental delay	55656	INTS8	OMIM:618572
HP:0001263	Global developmental delay	55151	TMEM38B	OMIM:615066
HP:0001263	Global developmental delay	22930	RAB3GAP1	OMIM:619420
HP:0001263	Global developmental delay	22930	RAB3GAP1	ORPHA:2510
HP:0001263	Global developmental delay	7046	TGFBR1	OMIM:609192
HP:0001263	Global developmental delay	3242	HPD	OMIM:276710
HP:0001263	Global developmental delay	389827	MYMK	OMIM:254940
HP:0001263	Global developmental delay	9488	PIGB	OMIM:618580
HP:0001263	Global developmental delay	51574	LARP7	OMIM:615071
HP:0001263	Global developmental delay	4558	MT-TF	ORPHA:550
HP:0001263	Global developmental delay	4572	MT-TQ	ORPHA:550
HP:0001263	Global developmental delay	4512	MT-CO1	ORPHA:550
HP:0001263	Global developmental delay	4513	MT-CO2	ORPHA:550
HP:0001263	Global developmental delay	4514	MT-CO3	ORPHA:550
HP:0001263	Global developmental delay	4578	MT-TW	ORPHA:550
HP:0001263	Global developmental delay	4540	MT-ND5	ORPHA:550
HP:0001263	Global developmental delay	4541	MT-ND6	ORPHA:550
HP:0001263	Global developmental delay	4535	MT-ND1	ORPHA:550
HP:0001263	Global developmental delay	4535	MT-ND1	ORPHA:2609
HP:0001263	Global developmental delay	4538	MT-ND4	ORPHA:550
HP:0001263	Global developmental delay	4567	MT-TL1	ORPHA:550
HP:0001263	Global developmental delay	4574	MT-TS1	ORPHA:550
HP:0001263	Global developmental delay	4574	MT-TS1	OMIM:220110
HP:0001263	Global developmental delay	4575	MT-TS2	ORPHA:550
HP:0001263	Global developmental delay	4564	MT-TH	ORPHA:550
HP:0001263	Global developmental delay	57459	GATAD2B	OMIM:615074
HP:0001263	Global developmental delay	57459	GATAD2B	ORPHA:363686
HP:0001263	Global developmental delay	6134	RPL10	OMIM:300998
HP:0001263	Global developmental delay	84894	LINGO1	OMIM:618103
HP:0001263	Global developmental delay	160418	TMTC3	OMIM:617255
HP:0001263	Global developmental delay	123606	NIPA1	ORPHA:261183
HP:0001263	Global developmental delay	7283	TUBG1	ORPHA:261183
HP:0001263	Global developmental delay	7283	TUBG1	OMIM:615412
HP:0001263	Global developmental delay	81614	NIPA2	ORPHA:261183
HP:0001263	Global developmental delay	8473	OGT	OMIM:300997
HP:0001263	Global developmental delay	92335	STRADA	ORPHA:500533
HP:0001263	Global developmental delay	92335	STRADA	OMIM:611087
HP:0001263	Global developmental delay	6418	SET	OMIM:618106
HP:0001263	Global developmental delay	7707	ZNF148	OMIM:617260
HP:0001263	Global developmental delay	6299	SALL1	OMIM:107480
HP:0001263	Global developmental delay	6809	STX3	OMIM:619446
HP:0001263	Global developmental delay	6809	STX3	ORPHA:2290
HP:0001263	Global developmental delay	57520	HECW2	OMIM:617268
HP:0001263	Global developmental delay	114803	MYSM1	OMIM:618116
HP:0001263	Global developmental delay	3417	IDH1	ORPHA:99646
HP:0001263	Global developmental delay	56975	FAM20C	OMIM:259775
HP:0001263	Global developmental delay	55250	ELP2	OMIM:617270
HP:0001263	Global developmental delay	51132	RLIM	OMIM:300978
HP:0001263	Global developmental delay	537	ATP6AP1	OMIM:300972
HP:0001263	Global developmental delay	513	ATP5F1D	OMIM:618120
HP:0001263	Global developmental delay	1312	COMT	ORPHA:567
HP:0001263	Global developmental delay	221037	JMJD1C	ORPHA:567
HP:0001263	Global developmental delay	2812	GP1BB	ORPHA:567
HP:0001263	Global developmental delay	2812	GP1BB	ORPHA:853
HP:0001263	Global developmental delay	6239	RREB1	ORPHA:567
HP:0001263	Global developmental delay	6899	TBX1	ORPHA:567
HP:0001263	Global developmental delay	6899	TBX1	OMIM:217095
HP:0001263	Global developmental delay	6899	TBX1	ORPHA:1727
HP:0001263	Global developmental delay	6899	TBX1	OMIM:188400
HP:0001263	Global developmental delay	7290	HIRA	ORPHA:567
HP:0001263	Global developmental delay	9632	SEC24C	ORPHA:567
HP:0001263	Global developmental delay	7353	UFD1	ORPHA:567
HP:0001263	Global developmental delay	421	ARVCF	ORPHA:567
HP:0001263	Global developmental delay	1009	CDH11	OMIM:211380
HP:0001263	Global developmental delay	1009	CDH11	OMIM:619736
HP:0001263	Global developmental delay	6821	SUOX	OMIM:272300
HP:0001263	Global developmental delay	80311	KLHL15	OMIM:300982
HP:0001263	Global developmental delay	6557	SLC12A1	OMIM:601678
HP:0001263	Global developmental delay	23258	DENND5A	OMIM:617281
HP:0001263	Global developmental delay	3155	HMGCL	OMIM:246450
HP:0001263	Global developmental delay	84892	POMGNT2	OMIM:618135
HP:0001263	Global developmental delay	84892	POMGNT2	ORPHA:899
HP:0001263	Global developmental delay	84892	POMGNT2	OMIM:614830
HP:0001263	Global developmental delay	2009	EML1	OMIM:600348
HP:0001263	Global developmental delay	9758	FRMPD4	OMIM:300983
HP:0001263	Global developmental delay	3188	HNRNPH2	OMIM:300986
HP:0001263	Global developmental delay	4548	MTR	OMIM:250940
HP:0001263	Global developmental delay	84065	TMEM222	OMIM:619470
HP:0001263	Global developmental delay	26160	IFT172	OMIM:619471
HP:0001263	Global developmental delay	11212	PLPBP	OMIM:617290
HP:0001263	Global developmental delay	57498	KIDINS220	OMIM:617296
HP:0001263	Global developmental delay	8812	CCNK	OMIM:618147
HP:0001263	Global developmental delay	10526	IPO8	OMIM:619472
HP:0001263	Global developmental delay	23316	CUX2	OMIM:618141
HP:0001263	Global developmental delay	2892	GRIA3	ORPHA:364028
HP:0001263	Global developmental delay	54539	NDUFB11	OMIM:300952
HP:0001263	Global developmental delay	54539	NDUFB11	ORPHA:2556
HP:0001263	Global developmental delay	54539	NDUFB11	ORPHA:2609
HP:0001263	Global developmental delay	54539	NDUFB11	OMIM:309801
HP:0001263	Global developmental delay	94005	PIGS	OMIM:618143
HP:0001263	Global developmental delay	6711	SPTBN1	OMIM:619475
HP:0001263	Global developmental delay	5781	PTPN11	ORPHA:500
HP:0001263	Global developmental delay	11198	SUPT16H	OMIM:619480
HP:0001263	Global developmental delay	2887	GRB10	ORPHA:96182
HP:0001263	Global developmental delay	10682	EBP	OMIM:300960
HP:0001263	Global developmental delay	10682	EBP	ORPHA:401973
HP:0001263	Global developmental delay	283446	MYO1H	OMIM:619482
HP:0001263	Global developmental delay	6872	TAF1	OMIM:300966
HP:0001263	Global developmental delay	6872	TAF1	ORPHA:480907
HP:0001263	Global developmental delay	374879	ZNF699	OMIM:619488
HP:0001263	Global developmental delay	5058	PAK1	OMIM:618158
HP:0001263	Global developmental delay	23067	SETD1B	OMIM:619000
HP:0001263	Global developmental delay	28952	CCDC22	OMIM:300963
HP:0001263	Global developmental delay	28952	CCDC22	ORPHA:7
HP:0001263	Global developmental delay	9373	PLAA	ORPHA:521426
HP:0001263	Global developmental delay	9373	PLAA	OMIM:617527
HP:0001263	Global developmental delay	2998	GYS2	ORPHA:2089
HP:0001263	Global developmental delay	10681	GNB5	ORPHA:542306
HP:0001263	Global developmental delay	10681	GNB5	OMIM:617173
HP:0001263	Global developmental delay	10681	GNB5	OMIM:617182
HP:0001263	Global developmental delay	3988	LIPA	ORPHA:75233
HP:0001263	Global developmental delay	403	ARL3	OMIM:618161
HP:0001263	Global developmental delay	403	ARL3	ORPHA:475
HP:0001263	Global developmental delay	23387	SIK3	OMIM:618162
HP:0001263	Global developmental delay	80267	EDEM3	OMIM:619493
HP:0001263	Global developmental delay	84231	TRAF7	OMIM:618164
HP:0001263	Global developmental delay	63899	NSUN3	OMIM:619012
HP:0001263	Global developmental delay	7157	TP53	OMIM:618165
HP:0001263	Global developmental delay	2193	FARSA	OMIM:619013
HP:0001263	Global developmental delay	727676	SNORD118	ORPHA:542310
HP:0001263	Global developmental delay	727676	SNORD118	OMIM:614561
HP:0001263	Global developmental delay	26276	VPS33B	OMIM:620009
HP:0001263	Global developmental delay	26276	VPS33B	OMIM:208085
HP:0001263	Global developmental delay	203190	LGI3	OMIM:620007
HP:0001263	Global developmental delay	92344	GORAB	ORPHA:2078
HP:0001263	Global developmental delay	11043	MID2	OMIM:300928
HP:0001263	Global developmental delay	875	CBS	OMIM:236200
HP:0001263	Global developmental delay	3110	MNX1	OMIM:176450
HP:0001263	Global developmental delay	84081	NSRP1	OMIM:620001
HP:0001263	Global developmental delay	5468	PPARG	ORPHA:528
HP:0001263	Global developmental delay	10555	AGPAT2	ORPHA:528
HP:0001263	Global developmental delay	284119	CAVIN1	ORPHA:528
HP:0001263	Global developmental delay	26580	BSCL2	ORPHA:528
HP:0001263	Global developmental delay	2353	FOS	ORPHA:528
HP:0001263	Global developmental delay	857	CAV1	ORPHA:528
HP:0001263	Global developmental delay	9897	WASHC5	ORPHA:7
HP:0001263	Global developmental delay	9897	WASHC5	OMIM:220210
HP:0001263	Global developmental delay	54936	ADPRS	OMIM:618170
HP:0001263	Global developmental delay	3030	HADHA	ORPHA:5
HP:0001263	Global developmental delay	3030	HADHA	OMIM:609015
HP:0001263	Global developmental delay	80217	CFAP43	OMIM:236690
HP:0001263	Global developmental delay	114034	TOE1	ORPHA:284339
HP:0001263	Global developmental delay	114034	TOE1	OMIM:614969
HP:0001263	Global developmental delay	9562	MINPP1	ORPHA:284339
HP:0001263	Global developmental delay	2629	GBA1	OMIM:230900
HP:0001263	Global developmental delay	64432	MRPS25	OMIM:619025
HP:0001263	Global developmental delay	84274	COQ5	OMIM:619028
HP:0001263	Global developmental delay	84942	WDR73	ORPHA:2065
HP:0001263	Global developmental delay	84942	WDR73	OMIM:251300
HP:0001263	Global developmental delay	8270	LAGE3	ORPHA:2065
HP:0001263	Global developmental delay	8270	LAGE3	OMIM:301006
HP:0001263	Global developmental delay	55294	FBXW7	OMIM:620012
HP:0001263	Global developmental delay	65055	REEP1	OMIM:620011
HP:0001263	Global developmental delay	2760	GM2A	OMIM:272750
HP:0001263	Global developmental delay	8085	KMT2D	OMIM:147920
HP:0001263	Global developmental delay	6095	RORA	OMIM:618060
HP:0001263	Global developmental delay	8243	SMC1A	OMIM:300590
HP:0001263	Global developmental delay	8243	SMC1A	OMIM:301044
HP:0001263	Global developmental delay	1183	CLCN4	OMIM:300114
HP:0001263	Global developmental delay	1183	CLCN4	ORPHA:485350
HP:0001263	Global developmental delay	5393	EXOSC9	OMIM:618065
HP:0001263	Global developmental delay	5393	EXOSC9	ORPHA:2254
HP:0001263	Global developmental delay	23241	PACS2	OMIM:618067
HP:0001263	Global developmental delay	5009	OTC	OMIM:311250
HP:0001263	Global developmental delay	57539	WDR35	OMIM:613610
HP:0001263	Global developmental delay	1278	COL1A2	ORPHA:230851
HP:0001263	Global developmental delay	51506	UFC1	OMIM:618076
HP:0001263	Global developmental delay	10978	CLP1	OMIM:615803
HP:0001263	Global developmental delay	10978	CLP1	ORPHA:411493
HP:0001263	Global developmental delay	10225	CD96	OMIM:211750
HP:0001263	Global developmental delay	271	AMPD2	OMIM:615809
HP:0001263	Global developmental delay	1763	DNA2	OMIM:615807
HP:0001263	Global developmental delay	6197	RPS6KA3	OMIM:303600
HP:0001263	Global developmental delay	93210	PGAP3	ORPHA:247262
HP:0001263	Global developmental delay	93210	PGAP3	OMIM:615716
HP:0001263	Global developmental delay	8913	CACNA1G	OMIM:618087
HP:0001263	Global developmental delay	64207	IRF2BPL	OMIM:618088
HP:0001263	Global developmental delay	80204	FBXO11	OMIM:618089
HP:0001263	Global developmental delay	5119	CHMP1A	OMIM:614961
HP:0001263	Global developmental delay	84876	ORAI1	OMIM:612782
HP:0001263	Global developmental delay	8792	TNFRSF11A	OMIM:612301
HP:0001263	Global developmental delay	5624	PROC	OMIM:612304
HP:0001263	Global developmental delay	23325	WASHC4	OMIM:615817
HP:0001263	Global developmental delay	51057	WDPCP	OMIM:217085
HP:0001263	Global developmental delay	57531	HACE1	ORPHA:464282
HP:0001263	Global developmental delay	57531	HACE1	OMIM:616756
HP:0001263	Global developmental delay	80856	LNPK	OMIM:618090
HP:0001263	Global developmental delay	55697	VAC14	ORPHA:3472
HP:0001263	Global developmental delay	11232	POLG2	OMIM:610131
HP:0001263	Global developmental delay	1954	MEGF8	OMIM:614976
HP:0001263	Global developmental delay	84300	UQCC2	OMIM:615824
HP:0001263	Global developmental delay	113235	SLC46A1	OMIM:229050
HP:0001263	Global developmental delay	113235	SLC46A1	ORPHA:90045
HP:0001263	Global developmental delay	4036	LRP2	ORPHA:2143
HP:0001263	Global developmental delay	4036	LRP2	OMIM:222448
HP:0001263	Global developmental delay	3425	IDUA	OMIM:607014
HP:0001263	Global developmental delay	3425	IDUA	ORPHA:93473
HP:0001263	Global developmental delay	9907	AP5Z1	OMIM:613647
HP:0001263	Global developmental delay	54496	PRMT7	ORPHA:464288
HP:0001263	Global developmental delay	54496	PRMT7	OMIM:617157
HP:0001263	Global developmental delay	165	AEBP1	ORPHA:536532
HP:0001263	Global developmental delay	6234	RPS28	OMIM:606164
HP:0001263	Global developmental delay	2903	GRIN2A	OMIM:245570
HP:0001263	Global developmental delay	6608	SMO	OMIM:601707
HP:0001263	Global developmental delay	5063	PAK3	OMIM:300558
HP:0001263	Global developmental delay	3418	IDH2	OMIM:613657
HP:0001263	Global developmental delay	90624	LYRM7	OMIM:615838
HP:0001263	Global developmental delay	1650	DDOST	OMIM:614507
HP:0001263	Global developmental delay	10056	FARSB	OMIM:613658
HP:0001263	Global developmental delay	3748	KCNC3	ORPHA:98768
HP:0001263	Global developmental delay	4094	MAF	ORPHA:1272
HP:0001263	Global developmental delay	440138	ALG11	OMIM:613661
HP:0001263	Global developmental delay	440138	ALG11	ORPHA:280071
HP:0001263	Global developmental delay	1910	EDNRB	OMIM:277580
HP:0001263	Global developmental delay	9440	MED17	OMIM:613668
HP:0001263	Global developmental delay	137814	NKX2-6	OMIM:217095
HP:0001263	Global developmental delay	1482	NKX2-5	OMIM:217095
HP:0001263	Global developmental delay	1482	NKX2-5	ORPHA:95713
HP:0001263	Global developmental delay	1482	NKX2-5	ORPHA:95712
HP:0001263	Global developmental delay	8242	KDM5C	OMIM:300534
HP:0001263	Global developmental delay	55084	SOBP	OMIM:613671
HP:0001263	Global developmental delay	27086	FOXP1	OMIM:613670
HP:0001263	Global developmental delay	57393	CLTRN	ORPHA:2116
HP:0001263	Global developmental delay	55275	VPS53	OMIM:615851
HP:0001263	Global developmental delay	2146	EZH2	OMIM:277590
HP:0001263	Global developmental delay	2146	EZH2	ORPHA:3447
HP:0001263	Global developmental delay	7048	TGFBR2	OMIM:610168
HP:0001263	Global developmental delay	445	ASS1	OMIM:215700
HP:0001263	Global developmental delay	85440	DOCK7	OMIM:615859
HP:0001263	Global developmental delay	8726	EED	ORPHA:3447
HP:0001263	Global developmental delay	8726	EED	OMIM:617561
HP:0001263	Global developmental delay	7546	ZIC2	OMIM:609637
HP:0001263	Global developmental delay	2033	EP300	OMIM:613684
HP:0001263	Global developmental delay	2033	EP300	OMIM:180849
HP:0001263	Global developmental delay	339453	TMEM240	OMIM:607454
HP:0001263	Global developmental delay	4089	SMAD4	ORPHA:2588
HP:0001263	Global developmental delay	5979	RET	OMIM:162300
HP:0001263	Global developmental delay	2245	FGD1	OMIM:305400
HP:0001263	Global developmental delay	124997	WDR81	OMIM:610185
HP:0001263	Global developmental delay	64116	SLC39A8	OMIM:616721
HP:0001263	Global developmental delay	79796	ALG9	OMIM:608776
HP:0001263	Global developmental delay	79796	ALG9	ORPHA:79328
HP:0001263	Global developmental delay	23028	KDM1A	OMIM:616728
HP:0001263	Global developmental delay	23028	KDM1A	ORPHA:477993
HP:0001263	Global developmental delay	546	ATRX	OMIM:301040
HP:0001263	Global developmental delay	55593	OTUD5	OMIM:301056
HP:0001263	Global developmental delay	5160	PDHA1	OMIM:312170
HP:0001263	Global developmental delay	5160	PDHA1	ORPHA:255241
HP:0001263	Global developmental delay	10229	COQ7	OMIM:616733
HP:0001263	Global developmental delay	11151	CORO1A	OMIM:615401
HP:0001263	Global developmental delay	83479	DDX59	OMIM:174300
HP:0001263	Global developmental delay	169792	GLIS3	OMIM:610199
HP:0001263	Global developmental delay	998	CDC42	OMIM:616737
HP:0001263	Global developmental delay	998	CDC42	ORPHA:487796
HP:0001263	Global developmental delay	5048	PAFAH1B1	OMIM:607432
HP:0001263	Global developmental delay	5048	PAFAH1B1	ORPHA:217385
HP:0001263	Global developmental delay	3176	HNMT	OMIM:616739
HP:0001263	Global developmental delay	2891	GRIA2	OMIM:618917
HP:0001263	Global developmental delay	84679	SLC9A7	OMIM:301024
HP:0001263	Global developmental delay	90161	HS6ST2	OMIM:301025
HP:0001263	Global developmental delay	4694	NDUFA1	OMIM:301020
HP:0001263	Global developmental delay	4694	NDUFA1	ORPHA:2609
HP:0001263	Global developmental delay	27235	COQ2	OMIM:607426
HP:0001263	Global developmental delay	63035	BCORL1	OMIM:301029
HP:0001263	Global developmental delay	3796	KIF2A	OMIM:615411
HP:0001263	Global developmental delay	259232	NALCN	OMIM:615419
HP:0001263	Global developmental delay	259232	NALCN	OMIM:616266
HP:0001263	Global developmental delay	259232	NALCN	ORPHA:371364
HP:0001263	Global developmental delay	81620	CDT1	ORPHA:2554
HP:0001263	Global developmental delay	5000	ORC4	ORPHA:2554
HP:0001263	Global developmental delay	23594	ORC6	ORPHA:2554
HP:0001263	Global developmental delay	4998	ORC1	ORPHA:2554
HP:0001263	Global developmental delay	51053	GMNN	ORPHA:2554
HP:0001263	Global developmental delay	3052	HCCS	ORPHA:2556
HP:0001263	Global developmental delay	3052	HCCS	OMIM:309801
HP:0001263	Global developmental delay	51185	CRBN	OMIM:607417
HP:0001263	Global developmental delay	84061	MAGT1	OMIM:301031
HP:0001263	Global developmental delay	10943	MSL3	OMIM:301032
HP:0001263	Global developmental delay	79576	NKAP	OMIM:301039
HP:0001263	Global developmental delay	8985	PLOD3	OMIM:612394
HP:0001263	Global developmental delay	25	ABL1	OMIM:617602
HP:0001263	Global developmental delay	57511	COG6	OMIM:614576
HP:0001263	Global developmental delay	83696	TRAPPC9	ORPHA:352530
HP:0001263	Global developmental delay	83696	TRAPPC9	OMIM:613192
HP:0001263	Global developmental delay	56479	KCNQ5	OMIM:617601
HP:0001263	Global developmental delay	23152	CIC	OMIM:617600
HP:0001263	Global developmental delay	29980	DONSON	OMIM:617604
HP:0001263	Global developmental delay	9997	SCO2	OMIM:604377
HP:0001263	Global developmental delay	9997	SCO2	ORPHA:70474
HP:0001263	Global developmental delay	538	ATP7A	ORPHA:198
HP:0001263	Global developmental delay	538	ATP7A	OMIM:304150
HP:0001263	Global developmental delay	157680	VPS13B	ORPHA:193
HP:0001263	Global developmental delay	11222	MRPL3	OMIM:614582
HP:0001263	Global developmental delay	81689	ISCA1	OMIM:617613
HP:0001263	Global developmental delay	1861	TOR1A	OMIM:618947
HP:0001263	Global developmental delay	79853	TM4SF20	OMIM:615432
HP:0001263	Global developmental delay	64857	PLEKHG2	OMIM:616763
HP:0001263	Global developmental delay	51520	LARS1	OMIM:615438
HP:0001263	Global developmental delay	4329	ALDH6A1	OMIM:614105
HP:0001263	Global developmental delay	80781	COL18A1	OMIM:267750
HP:0001263	Global developmental delay	63932	STEEP1	OMIM:301013
HP:0001263	Global developmental delay	26503	SLC17A5	OMIM:604369
HP:0001263	Global developmental delay	26503	SLC17A5	OMIM:269920
HP:0001263	Global developmental delay	55617	TASP1	OMIM:618950
HP:0001263	Global developmental delay	6182	MRPL12	OMIM:618951
HP:0001263	Global developmental delay	5162	PDHB	OMIM:614111
HP:0001263	Global developmental delay	114928	GPRASP2	OMIM:301018
HP:0001263	Global developmental delay	60528	ELAC2	OMIM:615440
HP:0001263	Global developmental delay	10319	LAMC3	OMIM:614115
HP:0001263	Global developmental delay	80210	ARMC9	OMIM:617622
HP:0001263	Global developmental delay	80210	ARMC9	ORPHA:475
HP:0001263	Global developmental delay	3832	KIF11	ORPHA:2526
HP:0001263	Global developmental delay	4190	MDH1	OMIM:618959
HP:0001263	Global developmental delay	617	BCS1L	OMIM:124000
HP:0001263	Global developmental delay	113246	C12orf57	OMIM:218340
HP:0001263	Global developmental delay	6834	SURF1	ORPHA:255241
HP:0001263	Global developmental delay	6834	SURF1	OMIM:220110
HP:0001263	Global developmental delay	6834	SURF1	ORPHA:70474
HP:0001263	Global developmental delay	4729	NDUFV2	ORPHA:255241
HP:0001263	Global developmental delay	4729	NDUFV2	ORPHA:2609
HP:0001263	Global developmental delay	55967	NDUFA12	ORPHA:255241
HP:0001263	Global developmental delay	51204	TACO1	ORPHA:255241
HP:0001263	Global developmental delay	4722	NDUFS3	ORPHA:255241
HP:0001263	Global developmental delay	4722	NDUFS3	ORPHA:2609
HP:0001263	Global developmental delay	100131801	PET100	ORPHA:255241
HP:0001263	Global developmental delay	1355	COX15	ORPHA:255241
HP:0001263	Global developmental delay	1892	ECHS1	ORPHA:255241
HP:0001263	Global developmental delay	1892	ECHS1	OMIM:616277
HP:0001263	Global developmental delay	374291	NDUFS7	ORPHA:255241
HP:0001263	Global developmental delay	374291	NDUFS7	ORPHA:2609
HP:0001263	Global developmental delay	51601	LIPT1	ORPHA:255241
HP:0001263	Global developmental delay	51601	LIPT1	OMIM:616299
HP:0001263	Global developmental delay	4697	NDUFA4	ORPHA:255241
HP:0001263	Global developmental delay	4704	NDUFA9	ORPHA:255241
HP:0001263	Global developmental delay	54888	NSUN2	OMIM:611091
HP:0001263	Global developmental delay	7991	TUSC3	OMIM:611093
HP:0001263	Global developmental delay	23247	KATNIP	OMIM:616784
HP:0001263	Global developmental delay	23247	KATNIP	ORPHA:475
HP:0001263	Global developmental delay	6651	SON	ORPHA:500150
HP:0001263	Global developmental delay	6651	SON	OMIM:617140
HP:0001263	Global developmental delay	5879	RAC1	ORPHA:500159
HP:0001263	Global developmental delay	23389	MED13L	OMIM:616789
HP:0001263	Global developmental delay	23389	MED13L	ORPHA:369891
HP:0001263	Global developmental delay	9939	RBM8A	OMIM:274000
HP:0001263	Global developmental delay	128637	TBC1D20	ORPHA:2510
HP:0001263	Global developmental delay	71	ACTG1	ORPHA:2995
HP:0001263	Global developmental delay	11113	CIT	ORPHA:2512
HP:0001263	Global developmental delay	11113	CIT	OMIM:617090
HP:0001263	Global developmental delay	9928	KIF14	ORPHA:2512
HP:0001263	Global developmental delay	4176	MCM7	ORPHA:2512
HP:0001263	Global developmental delay	80254	CEP63	ORPHA:2512
HP:0001263	Global developmental delay	29081	METTL5	ORPHA:2512
HP:0001263	Global developmental delay	79648	MCPH1	ORPHA:2512
HP:0001263	Global developmental delay	6491	STIL	ORPHA:2512
HP:0001263	Global developmental delay	6491	STIL	OMIM:612703
HP:0001263	Global developmental delay	23141	ANKLE2	ORPHA:2512
HP:0001263	Global developmental delay	23141	ANKLE2	OMIM:616681
HP:0001263	Global developmental delay	259266	ASPM	ORPHA:2512
HP:0001263	Global developmental delay	1911	PHC1	ORPHA:2512
HP:0001263	Global developmental delay	9662	CEP135	ORPHA:2512
HP:0001263	Global developmental delay	1021	CDK6	ORPHA:2512
HP:0001263	Global developmental delay	9699	RIMS2	OMIM:618970
HP:0001263	Global developmental delay	55553	SOX6	OMIM:618971
HP:0001263	Global developmental delay	1968	EIF2S3	OMIM:300148
HP:0001263	Global developmental delay	8884	SLC5A6	OMIM:618973
HP:0001263	Global developmental delay	5087	PBX1	OMIM:617641
HP:0001263	Global developmental delay	115286	SLC25A26	OMIM:616794
HP:0001263	Global developmental delay	55367	PIDD1	OMIM:619827
HP:0001263	Global developmental delay	203068	TUBB	ORPHA:2505
HP:0001263	Global developmental delay	203068	TUBB	OMIM:615771
HP:0001263	Global developmental delay	10982	MAPRE2	ORPHA:2505
HP:0001263	Global developmental delay	84148	KAT8	OMIM:618974
HP:0001263	Global developmental delay	8942	KYNU	ORPHA:79155
HP:0001263	Global developmental delay	10749	KIF1C	ORPHA:397946
HP:0001263	Global developmental delay	8036	SHOC2	OMIM:607721
HP:0001263	Global developmental delay	4716	NDUFB10	ORPHA:2609
HP:0001263	Global developmental delay	284184	NDUFAF8	ORPHA:2609
HP:0001263	Global developmental delay	55863	TMEM126B	ORPHA:2609
HP:0001263	Global developmental delay	4537	MT-ND3	ORPHA:2609
HP:0001263	Global developmental delay	4726	NDUFS6	ORPHA:2609
HP:0001263	Global developmental delay	29078	NDUFAF4	ORPHA:2609
HP:0001263	Global developmental delay	4536	MT-ND2	ORPHA:2609
HP:0001263	Global developmental delay	4715	NDUFB9	ORPHA:2609
HP:0001263	Global developmental delay	4099	MAG	OMIM:616680
HP:0001263	Global developmental delay	4099	MAG	ORPHA:459056
HP:0001263	Global developmental delay	104	ADARB1	OMIM:618862
HP:0001263	Global developmental delay	50651	SLC45A1	OMIM:617532
HP:0001263	Global developmental delay	2895	GRID2	OMIM:616204
HP:0001263	Global developmental delay	51126	NAA20	OMIM:619717
HP:0001263	Global developmental delay	60684	TRAPPC11	OMIM:615356
HP:0001263	Global developmental delay	60684	TRAPPC11	ORPHA:369847
HP:0001263	Global developmental delay	3008	H1-4	OMIM:617537
HP:0001263	Global developmental delay	79783	SUGCT	ORPHA:35706
HP:0001263	Global developmental delay	5339	PLEC	ORPHA:254361
HP:0001263	Global developmental delay	387119	CEP85L	OMIM:618873
HP:0001263	Global developmental delay	3020	H3-3A	OMIM:619720
HP:0001263	Global developmental delay	3021	H3-3B	OMIM:619721
HP:0001263	Global developmental delay	10300	KATNB1	OMIM:616212
HP:0001263	Global developmental delay	1630	DCC	OMIM:617542
HP:0001263	Global developmental delay	3162	HMOX1	OMIM:614034
HP:0001263	Global developmental delay	10026	PIGK	OMIM:618879
HP:0001263	Global developmental delay	4056	LTC4S	OMIM:614037
HP:0001263	Global developmental delay	79639	TMEM53	OMIM:619727
HP:0001263	Global developmental delay	375387	NRROS	OMIM:618875
HP:0001263	Global developmental delay	10501	SEMA6B	OMIM:618876
HP:0001263	Global developmental delay	3781	KCNN2	OMIM:619725
HP:0001263	Global developmental delay	6440	SFTPC	OMIM:610913
HP:0001263	Global developmental delay	64175	P3H1	OMIM:610915
HP:0001263	Global developmental delay	2590	GALNT2	OMIM:618885
HP:0001263	Global developmental delay	130589	GALM	OMIM:618881
HP:0001263	Global developmental delay	9692	PRORP	OMIM:619737
HP:0001263	Global developmental delay	4853	NOTCH2	OMIM:102500
HP:0001263	Global developmental delay	6773	STAT2	OMIM:618886
HP:0001263	Global developmental delay	51319	RSRC1	OMIM:618402
HP:0001263	Global developmental delay	7920	ABHD16A	OMIM:619735
HP:0001263	Global developmental delay	8560	DEGS1	OMIM:618404
HP:0001263	Global developmental delay	23761	PISD	OMIM:618889
HP:0001263	Global developmental delay	10715	CERS1	OMIM:616230
HP:0001263	Global developmental delay	39	ACAT2	OMIM:614055
HP:0001263	Global developmental delay	84314	TMEM107	OMIM:617563
HP:0001263	Global developmental delay	84314	TMEM107	OMIM:617562
HP:0001263	Global developmental delay	200734	SPRED2	OMIM:619745
HP:0001263	Global developmental delay	284439	SLC25A42	OMIM:618416
HP:0001263	Global developmental delay	79600	TCTN1	ORPHA:475
HP:0001263	Global developmental delay	200894	ARL13B	ORPHA:475
HP:0001263	Global developmental delay	200894	ARL13B	OMIM:612291
HP:0001263	Global developmental delay	219844	HYLS1	ORPHA:475
HP:0001263	Global developmental delay	79867	TCTN2	ORPHA:475
HP:0001263	Global developmental delay	79867	TCTN2	OMIM:616654
HP:0001263	Global developmental delay	80776	B9D2	ORPHA:475
HP:0001263	Global developmental delay	25776	CBY1	ORPHA:475
HP:0001263	Global developmental delay	27077	B9D1	ORPHA:475
HP:0001263	Global developmental delay	27077	B9D1	OMIM:617120
HP:0001263	Global developmental delay	1947	EFNB1	OMIM:304110
HP:0001263	Global developmental delay	339983	NAT8L	OMIM:614063
HP:0001263	Global developmental delay	8879	SGPL1	OMIM:617575
HP:0001263	Global developmental delay	51604	PIGT	OMIM:615398
HP:0001263	Global developmental delay	84504	NKX6-2	ORPHA:527497
HP:0001263	Global developmental delay	8363	H4C11	OMIM:619759
HP:0001263	Global developmental delay	7531	YWHAE	ORPHA:217385
HP:0001263	Global developmental delay	9841	ZBTB24	OMIM:614069
HP:0001263	Global developmental delay	9841	ZBTB24	ORPHA:2268
HP:0001263	Global developmental delay	7701	ZNF142	OMIM:618425
HP:0001263	Global developmental delay	8021	NUP214	OMIM:618426
HP:0001263	Global developmental delay	2643	GCH1	OMIM:233910
HP:0001263	Global developmental delay	23474	ETHE1	OMIM:602473
HP:0001263	Global developmental delay	85365	ALG2	ORPHA:79326
HP:0001263	Global developmental delay	8517	IKBKG	ORPHA:464
HP:0001263	Global developmental delay	4247	MGAT2	ORPHA:79329
HP:0001263	Global developmental delay	8314	BAP1	OMIM:619762
HP:0001263	Global developmental delay	79803	HPS6	OMIM:614075
HP:0001263	Global developmental delay	53335	BCL11A	OMIM:617101
HP:0001263	Global developmental delay	9474	ATG5	OMIM:617584
HP:0001263	Global developmental delay	6942	TCF20	OMIM:618430
HP:0001263	Global developmental delay	9158	FIBP	OMIM:617107
HP:0001263	Global developmental delay	9158	FIBP	ORPHA:500095
HP:0001263	Global developmental delay	256471	MFSD8	OMIM:610951
HP:0001263	Global developmental delay	51341	ZBTB7A	OMIM:619769
HP:0001263	Global developmental delay	2729	GCLC	ORPHA:33574
HP:0001263	Global developmental delay	9338	TCEAL1	OMIM:301094
HP:0001263	Global developmental delay	2556	GABRA3	OMIM:301091
HP:0001263	Global developmental delay	2271	FH	OMIM:606812
HP:0001263	Global developmental delay	7030	TFE3	OMIM:301066
HP:0001263	Global developmental delay	51651	PTRH2	OMIM:616263
HP:0001263	Global developmental delay	51651	PTRH2	ORPHA:456312
HP:0001263	Global developmental delay	23162	MAPK8IP3	OMIM:618443
HP:0001263	Global developmental delay	54941	RNF125	OMIM:616260
HP:0001263	Global developmental delay	339855	KY	OMIM:617114
HP:0001263	Global developmental delay	2562	GABRB3	OMIM:617113
HP:0001263	Global developmental delay	5286	PIK3C2A	OMIM:618440
HP:0001263	Global developmental delay	10463	SLC30A9	OMIM:617595
HP:0001263	Global developmental delay	388662	SLC6A17	OMIM:616269
HP:0001263	Global developmental delay	388662	SLC6A17	ORPHA:457212
HP:0001263	Global developmental delay	23219	FBXO28	OMIM:619777
HP:0001263	Global developmental delay	10195	ALG3	ORPHA:79321
HP:0001263	Global developmental delay	10195	ALG3	OMIM:601110
HP:0001263	Global developmental delay	79053	ALG8	ORPHA:79325
HP:0001263	Global developmental delay	57192	MCOLN1	OMIM:252650
HP:0001263	Global developmental delay	3756	KCNH1	OMIM:611816
HP:0001263	Global developmental delay	3897	L1CAM	OMIM:304100
HP:0001263	Global developmental delay	26100	WIPI2	OMIM:618453
HP:0001263	Global developmental delay	8295	TRRAP	OMIM:618454
HP:0001263	Global developmental delay	3658	IREB2	OMIM:618451
HP:0001263	Global developmental delay	3763	KCNJ6	OMIM:614098
HP:0001263	Global developmental delay	5256	PHKA2	ORPHA:264580
HP:0001263	Global developmental delay	5261	PHKG2	ORPHA:264580
HP:0001263	Global developmental delay	6878	TAF6	OMIM:617126
HP:0001263	Global developmental delay	58497	PRUNE1	ORPHA:544469
HP:0001263	Global developmental delay	51013	EXOSC1	OMIM:619304
HP:0001263	Global developmental delay	5062	PAK2	OMIM:618458
HP:0001263	Global developmental delay	84706	GPT2	OMIM:616281
HP:0001263	Global developmental delay	84706	GPT2	ORPHA:477673
HP:0001263	Global developmental delay	5898	RALA	OMIM:619311
HP:0001263	Global developmental delay	54892	NCAPG2	OMIM:618460
HP:0001263	Global developmental delay	6650	CAPN15	OMIM:619318
HP:0001263	Global developmental delay	3786	KCNQ3	OMIM:121201
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:424
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:95720
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:95713
HP:0001263	Global developmental delay	10102	TSFM	OMIM:610505
HP:0001263	Global developmental delay	1436	CSF1R	OMIM:618476
HP:0001263	Global developmental delay	29998	BICRA	OMIM:619325
HP:0001263	Global developmental delay	23030	KDM4B	OMIM:619320
HP:0001263	Global developmental delay	29968	PSAT1	OMIM:610992
HP:0001263	Global developmental delay	4081	MAB21L1	OMIM:618479
HP:0001263	Global developmental delay	1654	DDX3X	ORPHA:457260
HP:0001263	Global developmental delay	1282	COL4A1	ORPHA:899
HP:0001263	Global developmental delay	729920	CRPPA	ORPHA:899
HP:0001263	Global developmental delay	10329	RXYLT1	ORPHA:899
HP:0001263	Global developmental delay	8869	ST3GAL5	OMIM:609056
HP:0001263	Global developmental delay	1725	DHPS	OMIM:618480
HP:0001263	Global developmental delay	25929	GEMIN5	OMIM:619333
HP:0001263	Global developmental delay	2560	GABRB1	OMIM:617153
HP:0001263	Global developmental delay	23221	RHOBTB2	OMIM:618004
HP:0001263	Global developmental delay	34	ACADM	OMIM:201450
HP:0001263	Global developmental delay	79641	ROGDI	OMIM:226750
HP:0001263	Global developmental delay	4125	MAN2B1	OMIM:248500
HP:0001263	Global developmental delay	23229	ARHGEF9	OMIM:300607
HP:0001263	Global developmental delay	1108	CHD4	OMIM:617159
HP:0001263	Global developmental delay	9969	MED13	OMIM:618009
HP:0001263	Global developmental delay	1781	DYNC1I2	OMIM:618492
HP:0001263	Global developmental delay	8091	HMGA2	ORPHA:94063
HP:0001263	Global developmental delay	8091	HMGA2	ORPHA:397590
HP:0001263	Global developmental delay	23592	LEMD3	ORPHA:94063
HP:0001263	Global developmental delay	372	ARCN1	OMIM:617164
HP:0001263	Global developmental delay	22808	MRAS	OMIM:618499
HP:0001263	Global developmental delay	54681	P4HTM	OMIM:618493
HP:0001263	Global developmental delay	5283	PIGH	OMIM:618010
HP:0001263	Global developmental delay	1822	ATN1	OMIM:618494
HP:0001263	Global developmental delay	84896	ATAD1	OMIM:618011
HP:0001263	Global developmental delay	51305	KCNK9	ORPHA:166108
HP:0001263	Global developmental delay	51305	KCNK9	OMIM:612292
HP:0001263	Global developmental delay	84668	HYCC1	OMIM:610532
HP:0001263	Global developmental delay	84668	HYCC1	ORPHA:85163
HP:0001263	Global developmental delay	9343	EFTUD2	OMIM:610536
HP:0001263	Global developmental delay	84701	COX4I2	OMIM:612714
HP:0001263	Global developmental delay	1756	DMD	ORPHA:98896
HP:0001263	Global developmental delay	8425	LTBP4	ORPHA:98896
HP:0001263	Global developmental delay	6697	SPR	OMIM:612716
HP:0001263	Global developmental delay	2628	GATM	OMIM:612718
HP:0001263	Global developmental delay	5281	PIGF	OMIM:619356
HP:0001263	Global developmental delay	5977	DPF2	OMIM:618027
HP:0001263	Global developmental delay	28962	OSTM1	ORPHA:85179
HP:0001263	Global developmental delay	35	ACADS	OMIM:201470
HP:0001263	Global developmental delay	1387	CREBBP	OMIM:180849
HP:0001263	Global developmental delay	57514	ARHGAP31	OMIM:100300
HP:0001263	Global developmental delay	84172	POLR1B	ORPHA:861
HP:0001263	Global developmental delay	51082	POLR1D	ORPHA:861
HP:0001263	Global developmental delay	6949	TCOF1	ORPHA:861
HP:0001263	Global developmental delay	128240	NAXE	OMIM:617186
HP:0001263	Global developmental delay	79143	MBOAT7	OMIM:617188
HP:0001263	Global developmental delay	539	ATP5PO	OMIM:620359
HP:0001263	Global developmental delay	498	ATP5F1A	OMIM:620358
HP:0001263	Global developmental delay	2593	GAMT	OMIM:612736
HP:0001263	Global developmental delay	2811	GP1BA	ORPHA:853
HP:0001263	Global developmental delay	3674	ITGA2B	ORPHA:853
HP:0001263	Global developmental delay	3673	ITGA2	ORPHA:853
HP:0001263	Global developmental delay	135228	CD109	ORPHA:853
HP:0001263	Global developmental delay	3690	ITGB3	ORPHA:853
HP:0001263	Global developmental delay	55252	ASXL2	OMIM:617190
HP:0001263	Global developmental delay	55898	UNC45A	OMIM:619377
HP:0001263	Global developmental delay	2332	FMR1	ORPHA:261483
HP:0001263	Global developmental delay	6571	SLC18A2	OMIM:618049
HP:0001263	Global developmental delay	6571	SLC18A2	ORPHA:352649
HP:0001263	Global developmental delay	5236	PGM1	OMIM:614921
HP:0001263	Global developmental delay	55005	RMND1	OMIM:614922
HP:0001263	Global developmental delay	3295	HSD17B4	OMIM:261515
HP:0001263	Global developmental delay	124454	EARS2	OMIM:614924
HP:0001263	Global developmental delay	55074	OXR1	OMIM:213000
HP:0001263	Global developmental delay	11011	TLK2	OMIM:618050
HP:0001263	Global developmental delay	129285	PPP1R21	OMIM:619383
HP:0001263	Global developmental delay	27072	VPS41	OMIM:619389
HP:0001263	Global developmental delay	341208	HEPHL1	OMIM:261990
HP:0001263	Global developmental delay	4893	NRAS	OMIM:249400
HP:0001263	Global developmental delay	221927	BRAT1	OMIM:618056
HP:0001263	Global developmental delay	221927	BRAT1	OMIM:614498
HP:0001263	Global developmental delay	3480	IGF1R	OMIM:270450
HP:0001263	Global developmental delay	6584	SLC22A5	OMIM:212140
HP:0001263	Global developmental delay	10128	LRPPRC	OMIM:220111
HP:0001263	Global developmental delay	10128	LRPPRC	ORPHA:70472
HP:0001263	Global developmental delay	158	ADSL	OMIM:103050
HP:0001263	Global developmental delay	81555	YIPF5	OMIM:619278
HP:0001263	Global developmental delay	4570	MT-TN	OMIM:220110
HP:0001263	Global developmental delay	4645	MYO5B	ORPHA:2290
HP:0001263	Global developmental delay	347734	SLC35B2	OMIM:620269
HP:0001263	Global developmental delay	132158	GLYCTK	ORPHA:941
HP:0001263	Global developmental delay	132158	GLYCTK	OMIM:220120
HP:0001263	Global developmental delay	9442	MED27	OMIM:619286
HP:0001263	Global developmental delay	2911	GRM1	OMIM:614831
HP:0001263	Global developmental delay	3899	AFF3	OMIM:619297
HP:0001263	Global developmental delay	1757	SARDH	ORPHA:3129
HP:0001263	Global developmental delay	36	ACADSB	OMIM:610006
HP:0001263	Global developmental delay	7841	MOGS	OMIM:606056
HP:0001263	Global developmental delay	1789	DNMT3B	ORPHA:2268
HP:0001263	Global developmental delay	4338	MOCS2	OMIM:252160
HP:0001263	Global developmental delay	5826	ABCD4	OMIM:614857
HP:0001263	Global developmental delay	9711	RUBCN	OMIM:615705
HP:0001263	Global developmental delay	1857	DVL3	ORPHA:3107
HP:0001263	Global developmental delay	2535	FZD2	ORPHA:3107
HP:0001263	Global developmental delay	9255	AIMP1	OMIM:260600
HP:0001263	Global developmental delay	5297	PI4KA	ORPHA:98889
HP:0001263	Global developmental delay	5297	PI4KA	OMIM:619708
HP:0001263	Global developmental delay	27286	SRPX2	ORPHA:98889
HP:0001263	Global developmental delay	157570	ESCO2	ORPHA:3103
HP:0001263	Global developmental delay	78989	COLEC11	OMIM:265050
HP:0001263	Global developmental delay	728294	D2HGDH	OMIM:600721
HP:0001263	Global developmental delay	2521	FUS	ORPHA:300605
HP:0001263	Global developmental delay	80208	SPG11	ORPHA:300605
HP:0001263	Global developmental delay	10280	SIGMAR1	ORPHA:300605
HP:0001263	Global developmental delay	10558	SPTLC1	ORPHA:300605
HP:0001263	Global developmental delay	5324	PLAG1	ORPHA:397590
HP:0001263	Global developmental delay	162417	NAGS	ORPHA:927
HP:0001263	Global developmental delay	10165	SLC25A13	ORPHA:247585
HP:0001263	Global developmental delay	11023	VAX1	OMIM:614402
HP:0001263	Global developmental delay	51199	NIN	ORPHA:319675
HP:0001263	Global developmental delay	117581	TWIST2	ORPHA:920
HP:0001263	Global developmental delay	867	CBL	OMIM:613563
HP:0001263	Global developmental delay	3329	HSPD1	OMIM:612233
HP:0001263	Global developmental delay	2554	GABRA1	OMIM:615744
HP:0001263	Global developmental delay	137492	VPS37A	OMIM:614898
HP:0001263	Global developmental delay	10695	CNPY3	OMIM:617929
HP:0001263	Global developmental delay	9698	PUM1	OMIM:617931
HP:0001263	Global developmental delay	763	CA5A	OMIM:615751
HP:0001263	Global developmental delay	7545	ZIC1	OMIM:616602
HP:0001263	Global developmental delay	27249	MMADHC	OMIM:277410
HP:0001263	Global developmental delay	27249	MMADHC	ORPHA:79283
HP:0001263	Global developmental delay	55209	SETD5	OMIM:615761
HP:0001263	Global developmental delay	79631	EFL1	OMIM:617941
HP:0001263	Global developmental delay	1644	DDC	OMIM:608643
HP:0001263	Global developmental delay	5053	PAH	ORPHA:79254
HP:0001263	Global developmental delay	5053	PAH	ORPHA:2209
HP:0001263	Global developmental delay	64221	ROBO3	OMIM:607313
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95720
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95713
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95712
HP:0001263	Global developmental delay	5172	SLC26A4	ORPHA:95720
HP:0001263	Global developmental delay	5172	SLC26A4	ORPHA:95713
HP:0001263	Global developmental delay	4297	KMT2A	OMIM:605130
HP:0001263	Global developmental delay	2542	SLC37A4	ORPHA:79259
HP:0001263	Global developmental delay	2592	GALT	ORPHA:79239
HP:0001263	Global developmental delay	51116	MRPS2	OMIM:617950
HP:0001263	Global developmental delay	9512	PMPCB	OMIM:617954
HP:0001263	Global developmental delay	2304	FOXE1	ORPHA:95713
HP:0001263	Global developmental delay	26007	TKFC	OMIM:618805
HP:0001263	Global developmental delay	2058	EPRS1	OMIM:617951
HP:0001263	Global developmental delay	64131	XYLT1	OMIM:615777
HP:0001263	Global developmental delay	9056	SLC7A7	OMIM:222700
HP:0001263	Global developmental delay	54664	TMEM106B	OMIM:617964
HP:0001263	Global developmental delay	1729	DIAPH1	OMIM:616632
HP:0001263	Global developmental delay	6785	ELOVL4	OMIM:614457
HP:0001263	Global developmental delay	27010	TPK1	OMIM:614458
HP:0001263	Global developmental delay	11019	LIAS	OMIM:614462
HP:0001263	Global developmental delay	57468	SLC12A5	OMIM:616645
HP:0001263	Global developmental delay	9791	PTDSS1	ORPHA:2658
HP:0001263	Global developmental delay	4659	PPP1R12A	OMIM:618820
HP:0001263	Global developmental delay	3704	ITPA	OMIM:616647
HP:0001263	Global developmental delay	56270	WDR45B	OMIM:617977
HP:0001263	Global developmental delay	285175	UNC80	ORPHA:371364
HP:0001263	Global developmental delay	22934	RPIA	OMIM:608611
HP:0001263	Global developmental delay	8405	SPOP	OMIM:618828
HP:0001263	Global developmental delay	22871	NLGN1	OMIM:618830
HP:0001263	Global developmental delay	2670	GFAP	ORPHA:363717
HP:0001263	Global developmental delay	5500	PPP1CB	OMIM:617506
HP:0001263	Global developmental delay	6509	SLC1A4	OMIM:616657
HP:0001263	Global developmental delay	54676	GTPBP2	OMIM:617988
HP:0001263	Global developmental delay	100506658	OCLN	OMIM:251290
HP:0001263	Global developmental delay	5296	PIK3R2	OMIM:603387
HP:0001263	Global developmental delay	3920	LAMP2	OMIM:300257
HP:0001263	Global developmental delay	529	ATP6V1E1	ORPHA:357074
HP:0001263	Global developmental delay	55023	PHIP	OMIM:617991
HP:0001263	Global developmental delay	1284	COL4A2	OMIM:614483
HP:0001263	Global developmental delay	5718	PSMD12	OMIM:617516
HP:0001263	Global developmental delay	51294	PCDH12	OMIM:251280
HP:0001263	Global developmental delay	57731	SPTBN4	OMIM:617519
HP:0001263	Global developmental delay	6223	RPS19	OMIM:105650
HP:0001263	Global developmental delay	2639	GCDH	OMIM:231670
HP:0001263	Global developmental delay	64072	CDH23	ORPHA:231169
HP:0001263	Global developmental delay	10083	USH1C	ORPHA:231169
HP:0001263	Global developmental delay	124590	USH1G	ORPHA:231169
HP:0001263	Global developmental delay	83715	ESPN	ORPHA:231169
HP:0001263	Global developmental delay	10518	CIB2	ORPHA:231169
HP:0001263	Global developmental delay	4647	MYO7A	ORPHA:231169
HP:0001263	Global developmental delay	65217	PCDH15	ORPHA:231169
HP:0001263	Global developmental delay	4747	NEFL	OMIM:607734
HP:0001263	Global developmental delay	51733	UPB1	OMIM:613161
HP:0001263	Global developmental delay	18	ABAT	OMIM:613163
HP:0001263	Global developmental delay	80169	CTC1	ORPHA:1775
HP:0001263	Global developmental delay	55651	NHP2	ORPHA:1775
HP:0001263	Global developmental delay	79650	USB1	ORPHA:1775
HP:0001263	Global developmental delay	55135	WRAP53	ORPHA:1775
HP:0001263	Global developmental delay	4869	NPM1	ORPHA:1775
HP:0001263	Global developmental delay	7012	TERC	ORPHA:1775
HP:0001263	Global developmental delay	55505	NOP10	ORPHA:1775
HP:0001263	Global developmental delay	7298	TYMS	ORPHA:1775
HP:0001263	Global developmental delay	85378	TUBGCP6	OMIM:251270
HP:0001263	Global developmental delay	96459	FNIP1	OMIM:619705
HP:0001263	Global developmental delay	25871	NEPRO	OMIM:618853
HP:0001263	Global developmental delay	55753	OGDHL	OMIM:619701
HP:0001263	Global developmental delay	22868	FASTKD2	OMIM:618855
HP:0001263	Global developmental delay	126792	B3GALT6	OMIM:615349
HP:0001263	Global developmental delay	284217	LAMA1	ORPHA:370022
HP:0001263	Global developmental delay	25974	MMACHC	OMIM:277400
HP:0001263	Global developmental delay	5052	PRDX1	OMIM:277400
HP:0001263	Global developmental delay	2582	GALE	OMIM:230350
HP:0001263	Global developmental delay	11285	B4GALT7	OMIM:130070
HP:0001263	Global developmental delay	10841	FTCD	ORPHA:51208
HP:0001263	Global developmental delay	6909	TBX2	OMIM:618223
HP:0001263	Global developmental delay	4952	OCRL	OMIM:300555
HP:0001263	Global developmental delay	2138	EYA1	OMIM:113650
HP:0001263	Global developmental delay	6495	SIX1	OMIM:113650
HP:0001263	Global developmental delay	4041	LRP5	ORPHA:178377
HP:0001263	Global developmental delay	4041	LRP5	ORPHA:891
HP:0001263	Global developmental delay	1000	CDH2	OMIM:619957
HP:0001263	Global developmental delay	6938	TCF12	OMIM:615314
HP:0001263	Global developmental delay	55526	DHTKD1	OMIM:204750
HP:0001263	Global developmental delay	5332	PLCB4	OMIM:614669
HP:0001263	Global developmental delay	22800	RRAS2	OMIM:618624
HP:0001263	Global developmental delay	10992	SF3B2	OMIM:164210
HP:0001263	Global developmental delay	22845	DOLK	ORPHA:91131
HP:0001263	Global developmental delay	8659	ALDH4A1	ORPHA:79101
HP:0001263	Global developmental delay	4173	MCM4	OMIM:609981
HP:0001263	Global developmental delay	9227	LRAT	ORPHA:364055
HP:0001263	Global developmental delay	55812	SPATA7	ORPHA:364055
HP:0001263	Global developmental delay	6121	RPE65	ORPHA:364055
HP:0001263	Global developmental delay	167691	LCA5	ORPHA:364055
HP:0001263	Global developmental delay	80232	WDR26	ORPHA:513456
HP:0001263	Global developmental delay	213	ALB	ORPHA:86816
HP:0001263	Global developmental delay	5932	RBBP8	OMIM:606744
HP:0001263	Global developmental delay	5932	RBBP8	ORPHA:808
HP:0001263	Global developmental delay	6658	SOX3	ORPHA:67045
HP:0001263	Global developmental delay	4841	NONO	OMIM:300967
HP:0001263	Global developmental delay	51163	DBR1	OMIM:619441
HP:0001263	Global developmental delay	443	ASPA	ORPHA:314918
HP:0001263	Global developmental delay	4780	NFE2L2	OMIM:617744
HP:0001263	Global developmental delay	10157	AASS	ORPHA:2203
HP:0001263	Global developmental delay	5184	PEPD	OMIM:170100
HP:0001263	Global developmental delay	3767	KCNJ11	ORPHA:79134
HP:0001263	Global developmental delay	79731	NARS2	ORPHA:79134
HP:0001263	Global developmental delay	6833	ABCC8	ORPHA:79134
HP:0001263	Global developmental delay	9382	COG1	OMIM:611209
HP:0001263	Global developmental delay	9382	COG1	ORPHA:263508
HP:0001263	Global developmental delay	338657	CENATAC	OMIM:620153
HP:0001263	Global developmental delay	4131	MAP1B	OMIM:618918
HP:0001263	Global developmental delay	4693	NDP	ORPHA:891
HP:0001263	Global developmental delay	1499	CTNNB1	ORPHA:891
HP:0001263	Global developmental delay	23554	TSPAN12	ORPHA:891
HP:0001263	Global developmental delay	79797	ZNF408	ORPHA:891
HP:0001263	Global developmental delay	8322	FZD4	ORPHA:891
HP:0001263	Global developmental delay	3376	IARS1	ORPHA:541423
HP:0001263	Global developmental delay	545	ATR	ORPHA:808
HP:0001263	Global developmental delay	1062	CENPE	ORPHA:808
HP:0001263	Global developmental delay	5116	PCNT	ORPHA:808
HP:0001263	Global developmental delay	79902	NUP85	ORPHA:808
HP:0001263	Global developmental delay	84126	ATRIP	ORPHA:808
HP:0001263	Global developmental delay	55835	CENPJ	ORPHA:808
HP:0001263	Global developmental delay	10293	TRAIP	ORPHA:808
HP:0001263	Global developmental delay	22995	CEP152	ORPHA:808
HP:0001263	Global developmental delay	10733	PLK4	ORPHA:808
HP:0001263	Global developmental delay	5257	PHKB	ORPHA:79240
HP:0001263	Global developmental delay	256297	PTF1A	OMIM:615935
HP:0001263	Global developmental delay	81615	TMEM163	OMIM:620243
HP:0001263	Global developmental delay	54704	PDP1	ORPHA:79246
HP:0001263	Global developmental delay	4566	MT-TK	ORPHA:1349
HP:0001263	Global developmental delay	8546	AP3B1	OMIM:608233
HP:0001263	Global developmental delay	20	ABCA2	OMIM:618808
HP:0001263	Global developmental delay	506	ATP5F1B	OMIM:620085
HP:0001263	Global developmental delay	2697	GJA1	ORPHA:2710
HP:0001263	Global developmental delay	2697	GJA1	OMIM:257850
HP:0001263	Global developmental delay	1513	CTSK	ORPHA:763
HP:0001263	Global developmental delay	56160	NSMCE3	OMIM:617241
HP:0001263	Global developmental delay	5442	POLRMT	OMIM:619743
HP:0001263	Global developmental delay	7156	TOP3A	OMIM:618097
HP:0001263	Global developmental delay	55780	ERMARD	OMIM:615544
HP:0001263	Global developmental delay	60	ACTB	OMIM:607371
HP:0001263	Global developmental delay	2783	GNB2	OMIM:619503
HP:0001263	Global developmental delay	5573	PRKAR1A	OMIM:101800
HP:0001263	Global developmental delay	165918	RNF168	OMIM:611943
HP:0001263	Global developmental delay	58499	ZNF462	OMIM:618619
HP:0001263	Global developmental delay	990	CDC6	OMIM:613805
HP:0001263	Global developmental delay	27034	ACAD8	ORPHA:79159
HP:0001263	Global developmental delay	9131	AIFM1	ORPHA:238329
HP:0001263	Global developmental delay	23394	ADNP	ORPHA:404448
HP:0001263	Global developmental delay	10265	IRX5	OMIM:611174
HP:0001263	Global developmental delay	5702	PSMC3	OMIM:619354
HP:0001263	Global developmental delay	10765	KDM5B	OMIM:618109
HP:0001263	Global developmental delay	6389	SDHA	ORPHA:3208
HP:0001263	Global developmental delay	6390	SDHB	ORPHA:3208
HP:0001263	Global developmental delay	6392	SDHD	ORPHA:3208
HP:0001263	Global developmental delay	644096	SDHAF1	ORPHA:3208
HP:0001263	Global developmental delay	3034	HAL	ORPHA:2157
HP:0001263	Global developmental delay	5238	PGM3	ORPHA:443811
HP:0001263	Global developmental delay	7174	TPP2	ORPHA:444463
HP:0001263	Global developmental delay	128989	TANGO2	ORPHA:480864
HP:0001263	Global developmental delay	6792	CDKL5	ORPHA:505652
HP:0001263	Global developmental delay	9496	TBX4	ORPHA:261279
HP:0001263	Global developmental delay	54968	TMEM70	ORPHA:1194
HP:0001263	Global developmental delay	54790	TET2	OMIM:619126
HP:0001263	Global developmental delay	8567	MADD	OMIM:619005
HP:0001263	Global developmental delay	23310	NCAPD3	OMIM:617984
HP:0001263	Global developmental delay	4763	NF1	OMIM:193520
HP:0001263	Global developmental delay	6662	SOX9	OMIM:114290
HP:0001263	Global developmental delay	26227	PHGDH	ORPHA:79351
HP:0001263	Global developmental delay	388015	RTL1	ORPHA:96334
HP:0001263	Global developmental delay	8788	DLK1	ORPHA:96334
HP:0001263	Global developmental delay	55384	MEG3	ORPHA:96334
HP:0001263	Global developmental delay	5354	PLP1	ORPHA:280229
HP:0001263	Global developmental delay	3028	HSD17B10	ORPHA:391428
HP:0001263	Global developmental delay	4702	NDUFA8	OMIM:619272
HP:0001263	Global developmental delay	27183	VPS4A	OMIM:619273
HP:0001263	Global developmental delay	7360	UGP2	OMIM:618744
HP:0001263	Global developmental delay	1119	CHKA	OMIM:620023
HP:0001263	Global developmental delay	4577	MT-TV	ORPHA:255210
HP:0001263	Global developmental delay	51112	TRAPPC12	ORPHA:500144
HP:0001263	Global developmental delay	51112	TRAPPC12	OMIM:617669
HP:0001263	Global developmental delay	6487	ST3GAL3	OMIM:615006
HP:0001263	Global developmental delay	56992	KIF15	ORPHA:261323
HP:0001263	Global developmental delay	170825	GSX2	OMIM:618646
HP:0001263	Global developmental delay	4330	MN1	OMIM:618774
HP:0001263	Global developmental delay	1501	CTNND2	ORPHA:281
HP:0001263	Global developmental delay	9037	SEMA5A	ORPHA:281
HP:0001263	Global developmental delay	497661	C18orf32	OMIM:619985
HP:0001263	Global developmental delay	8550	MAPKAPK5	OMIM:619869
HP:0001263	Global developmental delay	2752	GLUL	OMIM:610015
HP:0001263	Global developmental delay	149371	EXOC8	OMIM:619076
HP:0001263	Global developmental delay	79753	SNIP1	OMIM:614501
HP:0001263	Global developmental delay	5626	PROP1	ORPHA:95494
HP:0001263	Global developmental delay	3170	FOXA2	ORPHA:95494
HP:0001263	Global developmental delay	5449	POU1F1	ORPHA:95494
HP:0001263	Global developmental delay	10436	EMG1	ORPHA:1270
HP:0001263	Global developmental delay	253959	RALGAPA1	OMIM:618797
HP:0001263	Global developmental delay	7358	UGDH	OMIM:618792
HP:0001263	Global developmental delay	182	JAG1	OMIM:118450
HP:0001263	Global developmental delay	8813	DPM1	OMIM:608799
HP:0001263	Global developmental delay	8218	CLTCL1	ORPHA:453510
HP:0001263	Global developmental delay	50628	GEMIN4	OMIM:617913
HP:0001263	Global developmental delay	283989	TSEN54	OMIM:277470
HP:0001263	Global developmental delay	283989	TSEN54	OMIM:225753
HP:0001263	Global developmental delay	283989	TSEN54	ORPHA:2524
HP:0001263	Global developmental delay	51693	TRAPPC2L	OMIM:618331
HP:0001263	Global developmental delay	10243	GPHN	OMIM:615501
HP:0001263	Global developmental delay	55770	EXOC2	OMIM:619306
HP:0001263	Global developmental delay	56896	DPYSL5	OMIM:619435
HP:0001263	Global developmental delay	51807	TUBA8	ORPHA:250972
HP:0001263	Global developmental delay	9526	MPDU1	OMIM:609180
HP:0001263	Global developmental delay	22854	NTNG1	ORPHA:3095
HP:0001263	Global developmental delay	55610	VPS50	OMIM:619685
HP:0001263	Global developmental delay	6567	SLC16A2	OMIM:300523
HP:0001263	Global developmental delay	8882	ZPR1	OMIM:619321
HP:0001263	Global developmental delay	7280	TUBB2A	OMIM:615763
HP:0001263	Global developmental delay	50	ACO2	OMIM:614559
HP:0001263	Global developmental delay	79068	FTO	OMIM:612938
HP:0001263	Global developmental delay	54808	DYM	OMIM:223800
HP:0001263	Global developmental delay	5934	RBL2	OMIM:619690
HP:0001263	Global developmental delay	63925	ZNF335	OMIM:615095
HP:0001263	Global developmental delay	2530	FUT8	OMIM:618005
HP:0001263	Global developmental delay	91647	ATPAF2	OMIM:604273
HP:0001263	Global developmental delay	6045	RNF2	OMIM:619460
HP:0001263	Global developmental delay	60386	SLC25A19	ORPHA:99742
HP:0001263	Global developmental delay	8943	AP3D1	OMIM:617050
HP:0001263	Global developmental delay	57003	CCDC47	OMIM:618268
HP:0001263	Global developmental delay	4576	MT-TT	ORPHA:254857
HP:0001263	Global developmental delay	5167	ENPP1	ORPHA:51608
HP:0001263	Global developmental delay	368	ABCC6	ORPHA:51608
HP:0001263	Global developmental delay	6812	STXBP1	OMIM:612164
HP:0001263	Global developmental delay	3747	KCNC2	OMIM:619913
HP:0001263	Global developmental delay	25914	RTTN	ORPHA:468631
HP:0001263	Global developmental delay	79042	TSEN34	ORPHA:2524
HP:0001263	Global developmental delay	80746	TSEN2	ORPHA:2524
HP:0001263	Global developmental delay	8911	CACNA1I	OMIM:620114
HP:0001263	Global developmental delay	57020	VPS35L	OMIM:619135
HP:0001263	Global developmental delay	5331	PLCB3	OMIM:618961
HP:0001263	Global developmental delay	9197	SLC33A1	OMIM:614482
HP:0001263	Global developmental delay	738	VPS51	OMIM:618606
HP:0001263	Global developmental delay	5557	PRIM1	OMIM:620005
HP:0001263	Global developmental delay	23102	TBC1D2B	ORPHA:397973
HP:0001263	Global developmental delay	1496	CTNNA2	OMIM:618174
HP:0001263	Global developmental delay	221692	PHACTR1	OMIM:618298
HP:0001263	Global developmental delay	91949	COG7	OMIM:608779
HP:0001263	Global developmental delay	132	ADK	OMIM:614300
HP:0001263	Global developmental delay	9254	CACNA2D2	OMIM:618501
HP:0001263	Global developmental delay	116115	ZNF526	OMIM:619877
HP:0001263	Global developmental delay	8364	H4C3	OMIM:619758
HP:0001263	Global developmental delay	64220	STRA6	OMIM:601186
HP:0001263	Global developmental delay	128869	PIGU	OMIM:618590
HP:0001263	Global developmental delay	10479	SLC9A6	OMIM:300243
HP:0001263	Global developmental delay	2222	FDFT1	OMIM:618156
HP:0001263	Global developmental delay	60558	GUF1	OMIM:617065
HP:0001263	Global developmental delay	122961	ISCA2	OMIM:616370
HP:0001263	Global developmental delay	5859	QARS1	OMIM:615760
HP:0001263	Global developmental delay	387787	LIPT2	OMIM:617668
HP:0001263	Global developmental delay	55704	CCDC88A	OMIM:617507
HP:0001263	Global developmental delay	57038	RARS2	OMIM:611523
HP:0001263	Global developmental delay	57582	KCNT1	OMIM:614959
HP:0001263	Global developmental delay	440	ASNS	OMIM:615574
HP:0001263	Global developmental delay	7965	AIMP2	OMIM:618006
HP:0001263	Global developmental delay	9570	GOSR2	OMIM:620166
HP:0001263	Global developmental delay	25930	PTPN23	OMIM:618890
HP:0001263	Global developmental delay	667	DST	OMIM:614653
HP:0001263	Global developmental delay	9419	CRIPT	OMIM:615789
HP:0006794	Loss of ability to walk in first decade	10479	SLC9A6	OMIM:300243
HP:0006794	Loss of ability to walk in first decade	9499	MYOT	ORPHA:98911
HP:0002375	Hypokinesia	9131	AIFM1	ORPHA:238329
HP:0002375	Hypokinesia	9131	AIFM1	OMIM:300816
HP:0002375	Hypokinesia	291	SLC25A4	ORPHA:254892
HP:0002375	Hypokinesia	5428	POLG	ORPHA:254892
HP:0002375	Hypokinesia	56652	TWNK	ORPHA:254892
HP:0002375	Hypokinesia	11232	POLG2	ORPHA:254892
HP:0002375	Hypokinesia	50484	RRM2B	ORPHA:254892
HP:0002375	Hypokinesia	4927	NUP88	ORPHA:994
HP:0002375	Hypokinesia	7846	TUBA1A	ORPHA:994
HP:0002375	Hypokinesia	4654	MYOD1	ORPHA:994
HP:0002375	Hypokinesia	4593	MUSK	ORPHA:994
HP:0002375	Hypokinesia	5913	RAPSN	ORPHA:994
HP:0002375	Hypokinesia	6572	SLC18A3	ORPHA:994
HP:0002375	Hypokinesia	285489	DOK7	ORPHA:994
HP:0002375	Hypokinesia	3064	HTT	ORPHA:399
HP:0002375	Hypokinesia	6515	SLC2A3	ORPHA:399
HP:0002375	Hypokinesia	4359	MPZ	OMIM:618184
HP:0002375	Hypokinesia	7054	TH	OMIM:605407
HP:0002375	Hypokinesia	7054	TH	ORPHA:101150
HP:0002375	Hypokinesia	3920	LAMP2	OMIM:300257
HP:0002375	Hypokinesia	23732	FRRS1L	OMIM:616981
HP:0002375	Hypokinesia	23516	SLC39A14	OMIM:617013
HP:0002375	Hypokinesia	1213	CLTC	OMIM:617854
HP:0002375	Hypokinesia	8622	PDE8B	OMIM:609161
HP:0002375	Hypokinesia	85476	GFM1	OMIM:609060
HP:0002375	Hypokinesia	203190	LGI3	OMIM:620007
HP:0002375	Hypokinesia	9256	TSPOAP1	ORPHA:101150
HP:0002375	Hypokinesia	4534	MTM1	OMIM:310400
HP:0002375	Hypokinesia	2629	GBA1	OMIM:608013
HP:0002375	Hypokinesia	79581	SLC52A2	OMIM:614707
HP:0002375	Hypokinesia	23400	ATP13A2	OMIM:606693
HP:0002375	Hypokinesia	100303755	PET117	OMIM:619063
HP:0002375	Hypokinesia	5521	PPP2R2B	ORPHA:98762
HP:0002375	Hypokinesia	6531	SLC6A3	ORPHA:238455
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171436
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171433
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171430
HP:0002375	Hypokinesia	7169	TPM2	ORPHA:171436
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171436
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171433
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171430
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171436
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171433
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171430
HP:0002375	Hypokinesia	56203	LMOD3	ORPHA:171436
HP:0002375	Hypokinesia	56203	LMOD3	ORPHA:171430
HP:0002375	Hypokinesia	1073	CFL2	ORPHA:171436
HP:0002375	Hypokinesia	8818	DPM2	OMIM:615042
HP:0002375	Hypokinesia	440138	ALG11	ORPHA:280071
HP:0002375	Hypokinesia	7170	TPM3	ORPHA:171433
HP:0002375	Hypokinesia	5621	PRNP	ORPHA:157941
HP:0002375	Hypokinesia	51741	WWOX	OMIM:616211
HP:0002375	Hypokinesia	131377	KLHL40	ORPHA:171430
HP:0002375	Hypokinesia	51025	PAM16	OMIM:613320
HP:0002375	Hypokinesia	2741	GLRA1	OMIM:149400
HP:0002375	Hypokinesia	10243	GPHN	OMIM:149400
HP:0002375	Hypokinesia	51021	MRPS16	OMIM:610498
HP:0002375	Hypokinesia	6622	SNCA	OMIM:168601
HP:0002375	Hypokinesia	540	ATP7B	OMIM:277900
HP:0002375	Hypokinesia	3908	LAMA2	ORPHA:258
HP:0006956	Lateral ventricle dilatation	81555	YIPF5	OMIM:619278
HP:0006956	Lateral ventricle dilatation	10466	COG5	ORPHA:263487
HP:0006956	Lateral ventricle dilatation	10159	ATP6AP2	ORPHA:363654
HP:0006956	Lateral ventricle dilatation	4750	NEK1	OMIM:263520
HP:0006956	Lateral ventricle dilatation	100151683	RNU4ATAC	OMIM:210710
HP:0006956	Lateral ventricle dilatation	23394	ADNP	OMIM:615873
HP:0006956	Lateral ventricle dilatation	7355	SLC35A2	ORPHA:356961
HP:0006956	Lateral ventricle dilatation	7355	SLC35A2	OMIM:300896
HP:0006956	Lateral ventricle dilatation	7545	ZIC1	OMIM:616602
HP:0006956	Lateral ventricle dilatation	7545	ZIC1	OMIM:618736
HP:0006956	Lateral ventricle dilatation	79848	CSPP1	ORPHA:397715
HP:0006956	Lateral ventricle dilatation	9786	KIAA0586	ORPHA:397715
HP:0006956	Lateral ventricle dilatation	80816	ASXL3	OMIM:615485
HP:0006956	Lateral ventricle dilatation	387787	LIPT2	OMIM:617668
HP:0006956	Lateral ventricle dilatation	1841	DTYMK	OMIM:619847
HP:0006956	Lateral ventricle dilatation	23291	FBXW11	OMIM:618914
HP:0006956	Lateral ventricle dilatation	4953	ODC1	ORPHA:544488
HP:0006956	Lateral ventricle dilatation	57505	AARS2	OMIM:615889
HP:0006956	Lateral ventricle dilatation	9382	COG1	OMIM:611209
HP:0006956	Lateral ventricle dilatation	90161	HS6ST2	OMIM:301025
HP:0006956	Lateral ventricle dilatation	57551	TAOK1	OMIM:619575
HP:0006956	Lateral ventricle dilatation	84340	GFM2	ORPHA:565624
HP:0006956	Lateral ventricle dilatation	129685	TAF8	OMIM:619972
HP:0006956	Lateral ventricle dilatation	10588	MTHFS	OMIM:618367
HP:0006956	Lateral ventricle dilatation	347733	TUBB2B	ORPHA:300573
HP:0006956	Lateral ventricle dilatation	11274	USP18	OMIM:617397
HP:0006956	Lateral ventricle dilatation	7528	YY1	OMIM:617557
HP:0006956	Lateral ventricle dilatation	10381	TUBB3	ORPHA:300570
HP:0006956	Lateral ventricle dilatation	81857	MED25	ORPHA:464738
HP:0006956	Lateral ventricle dilatation	8792	TNFRSF11A	OMIM:612301
HP:0006956	Lateral ventricle dilatation	9361	LONP1	ORPHA:79243
HP:0006956	Lateral ventricle dilatation	5160	PDHA1	ORPHA:79243
HP:0006956	Lateral ventricle dilatation	83480	PUS3	ORPHA:488627
HP:0006956	Lateral ventricle dilatation	54806	AHI1	OMIM:608629
HP:0006956	Lateral ventricle dilatation	80311	KLHL15	OMIM:300982
HP:0006956	Lateral ventricle dilatation	29968	PSAT1	ORPHA:284417
HP:0006956	Lateral ventricle dilatation	9839	ZEB2	ORPHA:261552
HP:0006956	Lateral ventricle dilatation	9839	ZEB2	ORPHA:261537
HP:0006956	Lateral ventricle dilatation	2009	EML1	OMIM:600348
HP:0006956	Lateral ventricle dilatation	25930	PTPN23	OMIM:618890
HP:0006956	Lateral ventricle dilatation	5277	PIGA	OMIM:300868
HP:0006956	Lateral ventricle dilatation	8550	MAPKAPK5	OMIM:619869
HP:0006956	Lateral ventricle dilatation	80208	SPG11	ORPHA:2822
HP:0006956	Lateral ventricle dilatation	1641	DCX	ORPHA:2148
HP:0006956	Lateral ventricle dilatation	10352	WARS2	ORPHA:572798
HP:0006956	Lateral ventricle dilatation	23230	VPS13A	ORPHA:2388
HP:0006956	Lateral ventricle dilatation	200734	SPRED2	OMIM:619745
HP:0006956	Lateral ventricle dilatation	2752	GLUL	OMIM:610015
HP:0006956	Lateral ventricle dilatation	6304	SATB1	OMIM:619229
HP:0006956	Lateral ventricle dilatation	6638	SNRPN	ORPHA:177907
HP:0006956	Lateral ventricle dilatation	57572	DOCK6	OMIM:614219
HP:0006956	Lateral ventricle dilatation	80347	COASY	OMIM:618266
HP:0006956	Lateral ventricle dilatation	57498	KIDINS220	OMIM:617296
HP:0006956	Lateral ventricle dilatation	56006	SMG9	OMIM:619995
HP:0006956	Lateral ventricle dilatation	9851	KIAA0753	OMIM:619479
HP:0006956	Lateral ventricle dilatation	54539	NDUFB11	OMIM:300952
HP:0006956	Lateral ventricle dilatation	1182	CLCN3	OMIM:619517
HP:0006956	Lateral ventricle dilatation	1213	CLTC	OMIM:617854
HP:0006956	Lateral ventricle dilatation	4329	ALDH6A1	OMIM:614105
HP:0006956	Lateral ventricle dilatation	4784	NFIX	ORPHA:420179
HP:0006956	Lateral ventricle dilatation	93210	PGAP3	OMIM:615716
HP:0006956	Lateral ventricle dilatation	2896	GRN	OMIM:607485
HP:0006956	Lateral ventricle dilatation	85365	ALG2	ORPHA:79326
HP:0006956	Lateral ventricle dilatation	284252	KCTD1	OMIM:181270
HP:0006956	Lateral ventricle dilatation	728294	D2HGDH	OMIM:600721
HP:0006956	Lateral ventricle dilatation	100147744	RNU7-1	OMIM:619487
HP:0006956	Lateral ventricle dilatation	91875	TTC5	OMIM:619244
HP:0006956	Lateral ventricle dilatation	7443	VRK1	OMIM:607596
HP:0006956	Lateral ventricle dilatation	51244	CCDC174	OMIM:616816
HP:0006956	Lateral ventricle dilatation	10430	TMEM147	OMIM:620075
HP:0006956	Lateral ventricle dilatation	79989	IFT56	OMIM:619534
HP:0006956	Lateral ventricle dilatation	5879	RAC1	OMIM:617751
HP:0006956	Lateral ventricle dilatation	5528	PPP2R5D	ORPHA:457279
HP:0006956	Lateral ventricle dilatation	6651	SON	ORPHA:500150
HP:0006956	Lateral ventricle dilatation	9215	LARGE1	OMIM:613154
HP:0006956	Lateral ventricle dilatation	738	VPS51	OMIM:618606
HP:0006956	Lateral ventricle dilatation	2146	EZH2	OMIM:277590
HP:0006956	Lateral ventricle dilatation	8139	GAN	OMIM:256850
HP:0006956	Lateral ventricle dilatation	2639	GCDH	OMIM:231670
HP:0006956	Lateral ventricle dilatation	23299	BICD2	OMIM:618291
HP:0006956	Lateral ventricle dilatation	7546	ZIC2	OMIM:609637
HP:0006956	Lateral ventricle dilatation	7305	TYROBP	OMIM:221770
HP:0006956	Lateral ventricle dilatation	1523	CUX1	OMIM:618330
HP:0006956	Lateral ventricle dilatation	3763	KCNJ6	OMIM:614098
HP:0006956	Lateral ventricle dilatation	22930	RAB3GAP1	OMIM:619420
HP:0006956	Lateral ventricle dilatation	4208	MEF2C	OMIM:613443
HP:0006956	Lateral ventricle dilatation	2902	GRIN1	ORPHA:208447
HP:0006956	Lateral ventricle dilatation	8085	KMT2D	OMIM:147920
HP:0006956	Lateral ventricle dilatation	7403	KDM6A	OMIM:147920
HP:0002376	Developmental regression	9131	AIFM1	ORPHA:238329
HP:0002376	Developmental regression	9131	AIFM1	OMIM:300232
HP:0002376	Developmental regression	9131	AIFM1	OMIM:300816
HP:0002376	Developmental regression	5138	PDE2A	OMIM:619150
HP:0002376	Developmental regression	23394	ADNP	ORPHA:404448
HP:0002376	Developmental regression	26960	NBEA	OMIM:619157
HP:0002376	Developmental regression	91574	MTRFR	ORPHA:254930
HP:0002376	Developmental regression	91574	MTRFR	OMIM:613559
HP:0002376	Developmental regression	4574	MT-TS1	OMIM:220110
HP:0002376	Developmental regression	4570	MT-TN	OMIM:220110
HP:0002376	Developmental regression	6834	SURF1	OMIM:220110
HP:0002376	Developmental regression	6834	SURF1	ORPHA:70474
HP:0002376	Developmental regression	343450	KCNT2	OMIM:617771
HP:0002376	Developmental regression	7360	UGP2	OMIM:618744
HP:0002376	Developmental regression	84334	COA8	ORPHA:436271
HP:0002376	Developmental regression	84334	COA8	OMIM:619061
HP:0002376	Developmental regression	1788	DNMT3A	ORPHA:404443
HP:0002376	Developmental regression	51816	ADA2	ORPHA:820
HP:0002376	Developmental regression	51	ACOX1	ORPHA:2971
HP:0002376	Developmental regression	51	ACOX1	OMIM:264470
HP:0002376	Developmental regression	154881	KCTD7	ORPHA:263516
HP:0002376	Developmental regression	154881	KCTD7	OMIM:611726
HP:0002376	Developmental regression	4072	EPCAM	ORPHA:144
HP:0002376	Developmental regression	4292	MLH1	ORPHA:144
HP:0002376	Developmental regression	5395	PMS2	ORPHA:144
HP:0002376	Developmental regression	27030	MLH3	ORPHA:144
HP:0002376	Developmental regression	22909	FAN1	ORPHA:144
HP:0002376	Developmental regression	7048	TGFBR2	ORPHA:144
HP:0002376	Developmental regression	3845	KRAS	ORPHA:144
HP:0002376	Developmental regression	5290	PIK3CA	ORPHA:144
HP:0002376	Developmental regression	2956	MSH6	ORPHA:144
HP:0002376	Developmental regression	5378	PMS1	ORPHA:144
HP:0002376	Developmental regression	4436	MSH2	ORPHA:144
HP:0002376	Developmental regression	5660	PSAP	OMIM:249900
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309271
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309263
HP:0002376	Developmental regression	5660	PSAP	OMIM:610539
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309256
HP:0002376	Developmental regression	4535	MT-ND1	ORPHA:255210
HP:0002376	Developmental regression	4536	MT-ND2	ORPHA:255210
HP:0002376	Developmental regression	4537	MT-ND3	ORPHA:255210
HP:0002376	Developmental regression	4538	MT-ND4	ORPHA:255210
HP:0002376	Developmental regression	4567	MT-TL1	ORPHA:255210
HP:0002376	Developmental regression	4578	MT-TW	ORPHA:255210
HP:0002376	Developmental regression	4577	MT-TV	ORPHA:255210
HP:0002376	Developmental regression	4508	MT-ATP6	ORPHA:255210
HP:0002376	Developmental regression	4508	MT-ATP6	ORPHA:225154
HP:0002376	Developmental regression	4540	MT-ND5	ORPHA:255210
HP:0002376	Developmental regression	4541	MT-ND6	ORPHA:255210
HP:0002376	Developmental regression	4566	MT-TK	ORPHA:255210
HP:0002376	Developmental regression	51218	GLRX5	ORPHA:401866
HP:0002376	Developmental regression	51112	TRAPPC12	ORPHA:500144
HP:0002376	Developmental regression	51112	TRAPPC12	OMIM:617669
HP:0002376	Developmental regression	3020	H3-3A	OMIM:619720
HP:0002376	Developmental regression	65993	MRPS34	OMIM:617664
HP:0002376	Developmental regression	9442	MED27	OMIM:619286
HP:0002376	Developmental regression	644096	SDHAF1	OMIM:619166
HP:0002376	Developmental regression	644096	SDHAF1	ORPHA:3208
HP:0002376	Developmental regression	56997	COQ8A	ORPHA:139485
HP:0002376	Developmental regression	6392	SDHD	OMIM:619167
HP:0002376	Developmental regression	6392	SDHD	ORPHA:3208
HP:0002376	Developmental regression	2348	FOLR1	OMIM:613068
HP:0002376	Developmental regression	2782	GNB1	ORPHA:488613
HP:0002376	Developmental regression	2782	GNB1	OMIM:616973
HP:0002376	Developmental regression	64218	SEMA4A	ORPHA:440437
HP:0002376	Developmental regression	657	BMPR1A	ORPHA:440437
HP:0002376	Developmental regression	6224	RPS20	ORPHA:440437
HP:0002376	Developmental regression	57465	TBC1D24	ORPHA:352596
HP:0002376	Developmental regression	57465	TBC1D24	OMIM:615338
HP:0002376	Developmental regression	1841	DTYMK	OMIM:619847
HP:0002376	Developmental regression	790	CAD	OMIM:616457
HP:0002376	Developmental regression	1106	CHD2	OMIM:615369
HP:0002376	Developmental regression	2670	GFAP	OMIM:203450
HP:0002376	Developmental regression	10501	SEMA6B	OMIM:618876
HP:0002376	Developmental regression	128486	FITM2	OMIM:618635
HP:0002376	Developmental regression	57582	KCNT1	OMIM:614959
HP:0002376	Developmental regression	26580	BSCL2	OMIM:615924
HP:0002376	Developmental regression	55768	NGLY1	ORPHA:404454
HP:0002376	Developmental regression	23474	ETHE1	ORPHA:51188
HP:0002376	Developmental regression	23474	ETHE1	OMIM:602473
HP:0002376	Developmental regression	410	ARSA	ORPHA:309271
HP:0002376	Developmental regression	410	ARSA	ORPHA:309263
HP:0002376	Developmental regression	410	ARSA	ORPHA:309256
HP:0002376	Developmental regression	8029	CUBN	ORPHA:35858
HP:0002376	Developmental regression	81693	AMN	ORPHA:35858
HP:0002376	Developmental regression	4718	NDUFC2	OMIM:619170
HP:0002376	Developmental regression	51360	MBTPS2	ORPHA:2273
HP:0002376	Developmental regression	3074	HEXB	ORPHA:309155
HP:0002376	Developmental regression	3074	HEXB	OMIM:268800
HP:0002376	Developmental regression	23250	ATP11A	OMIM:619851
HP:0002376	Developmental regression	103	ADAR	OMIM:615010
HP:0002376	Developmental regression	103	ADAR	ORPHA:51
HP:0002376	Developmental regression	103	ADAR	ORPHA:225154
HP:0002376	Developmental regression	64207	IRF2BPL	OMIM:618088
HP:0002376	Developmental regression	7343	UBTF	OMIM:617672
HP:0002376	Developmental regression	7343	UBTF	ORPHA:500180
HP:0002376	Developmental regression	55037	PTCD3	OMIM:619057
HP:0002376	Developmental regression	5119	CHMP1A	OMIM:614961
HP:0002376	Developmental regression	816	CAMK2B	OMIM:617799
HP:0002376	Developmental regression	10352	WARS2	OMIM:619738
HP:0002376	Developmental regression	1759	DNM1	OMIM:616346
HP:0002376	Developmental regression	1759	DNM1	ORPHA:442835
HP:0002376	Developmental regression	3064	HTT	OMIM:617435
HP:0002376	Developmental regression	3423	IDS	ORPHA:217085
HP:0002376	Developmental regression	3423	IDS	ORPHA:217093
HP:0002376	Developmental regression	93627	TBCK	OMIM:616900
HP:0002376	Developmental regression	93627	TBCK	ORPHA:488632
HP:0002376	Developmental regression	23732	FRRS1L	ORPHA:725
HP:0002376	Developmental regression	23732	FRRS1L	OMIM:616981
HP:0002376	Developmental regression	2903	GRIN2A	ORPHA:725
HP:0002376	Developmental regression	2903	GRIN2A	ORPHA:98818
HP:0002376	Developmental regression	2903	GRIN2A	OMIM:245570
HP:0002376	Developmental regression	8398	PLA2G6	ORPHA:35069
HP:0002376	Developmental regression	8398	PLA2G6	OMIM:256600
HP:0002376	Developmental regression	5428	POLG	ORPHA:726
HP:0002376	Developmental regression	5428	POLG	OMIM:203700
HP:0002376	Developmental regression	54675	CRLS1	OMIM:620167
HP:0002376	Developmental regression	100303755	PET117	OMIM:619063
HP:0002376	Developmental regression	7274	TTPA	ORPHA:96
HP:0002376	Developmental regression	23096	IQSEC2	ORPHA:397933
HP:0002376	Developmental regression	23096	IQSEC2	OMIM:309530
HP:0002376	Developmental regression	80856	LNPK	OMIM:618090
HP:0002376	Developmental regression	1327	COX4I1	OMIM:619060
HP:0002376	Developmental regression	5833	PCYT2	OMIM:618770
HP:0002376	Developmental regression	388962	BOLA3	OMIM:614299
HP:0002376	Developmental regression	84342	COG8	ORPHA:95428
HP:0002376	Developmental regression	79731	NARS2	OMIM:616239
HP:0002376	Developmental regression	3737	KCNA2	ORPHA:442835
HP:0002376	Developmental regression	8120	AP3B2	ORPHA:442835
HP:0002376	Developmental regression	523	ATP6V1A	ORPHA:442835
HP:0002376	Developmental regression	10991	SLC38A3	ORPHA:442835
HP:0002376	Developmental regression	51343	FZR1	ORPHA:442835
HP:0002376	Developmental regression	22906	TRAK1	ORPHA:442835
HP:0002376	Developmental regression	22906	TRAK1	OMIM:618201
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:442835
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:36387
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:33069
HP:0002376	Developmental regression	1917	EEF1A2	ORPHA:442835
HP:0002376	Developmental regression	2561	GABRB2	ORPHA:442835
HP:0002376	Developmental regression	8831	SYNGAP1	ORPHA:442835
HP:0002376	Developmental regression	8831	SYNGAP1	ORPHA:544254
HP:0002376	Developmental regression	8831	SYNGAP1	OMIM:612621
HP:0002376	Developmental regression	7532	YWHAG	ORPHA:442835
HP:0002376	Developmental regression	79876	UBA5	ORPHA:442835
HP:0002376	Developmental regression	6328	SCN3A	ORPHA:442835
HP:0002376	Developmental regression	2558	GABRA5	ORPHA:442835
HP:0002376	Developmental regression	781	CACNA2D1	ORPHA:442835
HP:0002376	Developmental regression	2906	GRIN2D	ORPHA:442835
HP:0002376	Developmental regression	116150	NUS1	ORPHA:442835
HP:0002376	Developmental regression	10659	CELF2	ORPHA:442835
HP:0002376	Developmental regression	774	CACNA1B	ORPHA:442835
HP:0002376	Developmental regression	774	CACNA1B	OMIM:618497
HP:0002376	Developmental regression	1213	CLTC	ORPHA:442835
HP:0002376	Developmental regression	51741	WWOX	ORPHA:442835
HP:0002376	Developmental regression	23334	SZT2	ORPHA:442835
HP:0002376	Developmental regression	51412	ACTL6B	ORPHA:442835
HP:0002376	Developmental regression	348980	HCN1	ORPHA:442835
HP:0002376	Developmental regression	348980	HCN1	ORPHA:36387
HP:0002376	Developmental regression	6506	SLC1A2	ORPHA:442835
HP:0002376	Developmental regression	6506	SLC1A2	OMIM:617105
HP:0002376	Developmental regression	8867	SYNJ1	ORPHA:442835
HP:0002376	Developmental regression	2258	FGF13	ORPHA:442835
HP:0002376	Developmental regression	2258	FGF13	OMIM:301058
HP:0002376	Developmental regression	477	ATP1A2	ORPHA:442835
HP:0002376	Developmental regression	477	ATP1A2	OMIM:104290
HP:0002376	Developmental regression	3745	KCNB1	ORPHA:442835
HP:0002376	Developmental regression	284111	SLC13A5	ORPHA:442835
HP:0002376	Developmental regression	284111	SLC13A5	ORPHA:1946
HP:0002376	Developmental regression	25977	NECAP1	ORPHA:442835
HP:0002376	Developmental regression	16	AARS1	ORPHA:442835
HP:0002376	Developmental regression	6334	SCN8A	ORPHA:442835
HP:0002376	Developmental regression	6334	SCN8A	OMIM:614558
HP:0002376	Developmental regression	22866	CNKSR2	ORPHA:442835
HP:0002376	Developmental regression	9568	GABBR2	ORPHA:442835
HP:0002376	Developmental regression	9568	GABBR2	OMIM:617903
HP:0002376	Developmental regression	9568	GABBR2	ORPHA:3095
HP:0002376	Developmental regression	2555	GABRA2	ORPHA:442835
HP:0002376	Developmental regression	55152	DALRD3	ORPHA:442835
HP:0002376	Developmental regression	773	CACNA1A	ORPHA:442835
HP:0002376	Developmental regression	26999	CYFIP2	ORPHA:442835
HP:0002376	Developmental regression	4915	NTRK2	ORPHA:442835
HP:0002376	Developmental regression	4915	NTRK2	ORPHA:3451
HP:0002376	Developmental regression	25973	PARS2	ORPHA:442835
HP:0002376	Developmental regression	23097	CDK19	ORPHA:442835
HP:0002376	Developmental regression	64801	ARV1	ORPHA:442835
HP:0002376	Developmental regression	64801	ARV1	OMIM:617020
HP:0002376	Developmental regression	79947	DHDDS	ORPHA:442835
HP:0002376	Developmental regression	2257	FGF12	ORPHA:442835
HP:0002376	Developmental regression	2257	FGF12	OMIM:617166
HP:0002376	Developmental regression	5530	PPP3CA	ORPHA:442835
HP:0002376	Developmental regression	5530	PPP3CA	OMIM:617711
HP:0002376	Developmental regression	478	ATP1A3	ORPHA:442835
HP:0002376	Developmental regression	284439	SLC25A42	OMIM:618416
HP:0002376	Developmental regression	25942	SIN3A	OMIM:613406
HP:0002376	Developmental regression	10382	TUBB4A	OMIM:612438
HP:0002376	Developmental regression	84947	SERAC1	OMIM:614739
HP:0002376	Developmental regression	10522	DEAF1	OMIM:615828
HP:0002376	Developmental regression	10522	DEAF1	ORPHA:468620
HP:0002376	Developmental regression	6335	SCN9A	ORPHA:36387
HP:0002376	Developmental regression	6335	SCN9A	ORPHA:33069
HP:0002376	Developmental regression	112755	STX1B	ORPHA:36387
HP:0002376	Developmental regression	2563	GABRD	ORPHA:36387
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:36387
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:3451
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:1934
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:33069
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:36387
HP:0002376	Developmental regression	6323	SCN1A	OMIM:607208
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:33069
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:36387
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:1934
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:33069
HP:0002376	Developmental regression	84059	ADGRV1	ORPHA:36387
HP:0002376	Developmental regression	1499	CTNNB1	ORPHA:404473
HP:0002376	Developmental regression	443	ASPA	OMIM:271900
HP:0002376	Developmental regression	6792	CDKL5	OMIM:300672
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:3451
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:1934
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:3095
HP:0002376	Developmental regression	1267	CNP	OMIM:619071
HP:0002376	Developmental regression	8879	SGPL1	OMIM:617575
HP:0002376	Developmental regression	51604	PIGT	OMIM:615398
HP:0002376	Developmental regression	3028	HSD17B10	OMIM:300438
HP:0002376	Developmental regression	3028	HSD17B10	ORPHA:391428
HP:0002376	Developmental regression	6804	STX1A	ORPHA:904
HP:0002376	Developmental regression	7461	CLIP2	ORPHA:904
HP:0002376	Developmental regression	84277	DNAJC30	ORPHA:904
HP:0002376	Developmental regression	8468	FKBP6	ORPHA:904
HP:0002376	Developmental regression	5982	RFC2	ORPHA:904
HP:0002376	Developmental regression	2969	GTF2I	ORPHA:904
HP:0002376	Developmental regression	3984	LIMK1	ORPHA:904
HP:0002376	Developmental regression	9569	GTF2IRD1	ORPHA:904
HP:0002376	Developmental regression	155382	VPS37D	ORPHA:904
HP:0002376	Developmental regression	155368	METTL27	ORPHA:904
HP:0002376	Developmental regression	114049	BUD23	ORPHA:904
HP:0002376	Developmental regression	7458	EIF4H	ORPHA:904
HP:0002376	Developmental regression	84163	GTF2IRD2	ORPHA:904
HP:0002376	Developmental regression	9275	BCL7B	ORPHA:904
HP:0002376	Developmental regression	26608	TBL2	ORPHA:904
HP:0002376	Developmental regression	653361	NCF1	ORPHA:904
HP:0002376	Developmental regression	135886	TMEM270	ORPHA:904
HP:0002376	Developmental regression	51085	MLXIPL	ORPHA:904
HP:0002376	Developmental regression	9031	BAZ1B	ORPHA:904
HP:0002376	Developmental regression	2006	ELN	ORPHA:904
HP:0002376	Developmental regression	8021	NUP214	OMIM:618426
HP:0002376	Developmental regression	90624	LYRM7	OMIM:615838
HP:0002376	Developmental regression	493856	CISD2	ORPHA:3463
HP:0002376	Developmental regression	7466	WFS1	ORPHA:3463
HP:0002376	Developmental regression	80704	SLC19A3	OMIM:607483
HP:0002376	Developmental regression	6609	SMPD1	OMIM:257200
HP:0002376	Developmental regression	84992	PIGY	OMIM:616809
HP:0002376	Developmental regression	11128	POLR3A	ORPHA:447896
HP:0002376	Developmental regression	11128	POLR3A	OMIM:607694
HP:0002376	Developmental regression	285362	SUMF1	ORPHA:585
HP:0002376	Developmental regression	122961	ISCA2	OMIM:616370
HP:0002376	Developmental regression	2232	FDXR	ORPHA:543470
HP:0002376	Developmental regression	50485	SMARCAL1	ORPHA:1830
HP:0002376	Developmental regression	56947	MFF	ORPHA:485421
HP:0002376	Developmental regression	56947	MFF	OMIM:617086
HP:0002376	Developmental regression	64135	IFIH1	OMIM:615846
HP:0002376	Developmental regression	64135	IFIH1	ORPHA:51
HP:0002376	Developmental regression	10472	ZBTB18	OMIM:612337
HP:0002376	Developmental regression	79971	WLS	OMIM:619648
HP:0002376	Developmental regression	221692	PHACTR1	ORPHA:3451
HP:0002376	Developmental regression	6487	ST3GAL3	ORPHA:3451
HP:0002376	Developmental regression	10695	CNPY3	ORPHA:3451
HP:0002376	Developmental regression	23236	PLCB1	ORPHA:3451
HP:0002376	Developmental regression	23236	PLCB1	OMIM:613722
HP:0002376	Developmental regression	150094	SIK1	ORPHA:3451
HP:0002376	Developmental regression	150094	SIK1	ORPHA:1934
HP:0002376	Developmental regression	6709	SPTAN1	ORPHA:3451
HP:0002376	Developmental regression	60558	GUF1	ORPHA:3451
HP:0002376	Developmental regression	170302	ARX	ORPHA:3451
HP:0002376	Developmental regression	170302	ARX	ORPHA:1934
HP:0002376	Developmental regression	11152	WDR45	ORPHA:3451
HP:0002376	Developmental regression	2904	GRIN2B	ORPHA:3451
HP:0002376	Developmental regression	5277	PIGA	ORPHA:3451
HP:0002376	Developmental regression	3662	IRF4	ORPHA:3452
HP:0002376	Developmental regression	9338	TCEAL1	OMIM:301094
HP:0002376	Developmental regression	5354	PLP1	ORPHA:280229
HP:0002376	Developmental regression	10667	FARS2	ORPHA:466722
HP:0002376	Developmental regression	55670	PEX26	ORPHA:44
HP:0002376	Developmental regression	5824	PEX19	ORPHA:44
HP:0002376	Developmental regression	5828	PEX2	ORPHA:44
HP:0002376	Developmental regression	8504	PEX3	ORPHA:44
HP:0002376	Developmental regression	9409	PEX16	ORPHA:44
HP:0002376	Developmental regression	5190	PEX6	ORPHA:44
HP:0002376	Developmental regression	8799	PEX11B	ORPHA:44
HP:0002376	Developmental regression	5830	PEX5	ORPHA:44
HP:0002376	Developmental regression	5189	PEX1	ORPHA:44
HP:0002376	Developmental regression	5193	PEX12	ORPHA:44
HP:0002376	Developmental regression	5194	PEX13	ORPHA:44
HP:0002376	Developmental regression	5195	PEX14	ORPHA:44
HP:0002376	Developmental regression	5192	PEX10	ORPHA:44
HP:0002376	Developmental regression	7030	TFE3	OMIM:301066
HP:0002376	Developmental regression	55739	NAXD	OMIM:618321
HP:0002376	Developmental regression	10463	SLC30A9	OMIM:617595
HP:0002376	Developmental regression	84833	ATP5MK	OMIM:618683
HP:0002376	Developmental regression	6389	SDHA	ORPHA:3208
HP:0002376	Developmental regression	6389	SDHA	OMIM:252011
HP:0002376	Developmental regression	6390	SDHB	ORPHA:3208
HP:0002376	Developmental regression	6390	SDHB	OMIM:619224
HP:0002376	Developmental regression	23219	FBXO28	OMIM:619777
HP:0002376	Developmental regression	79641	ROGDI	ORPHA:1946
HP:0002376	Developmental regression	79641	ROGDI	OMIM:226750
HP:0002376	Developmental regression	3954	LETM1	OMIM:620089
HP:0002376	Developmental regression	5048	PAFAH1B1	ORPHA:95232
HP:0002376	Developmental regression	1967	EIF2B1	OMIM:603896
HP:0002376	Developmental regression	23636	NUP62	OMIM:271930
HP:0002376	Developmental regression	23636	NUP62	ORPHA:225154
HP:0002376	Developmental regression	2055	CLN8	OMIM:600143
HP:0002376	Developmental regression	27247	NFU1	OMIM:605711
HP:0002376	Developmental regression	81570	CLPB	OMIM:616271
HP:0002376	Developmental regression	81570	CLPB	ORPHA:445038
HP:0002376	Developmental regression	51693	TRAPPC2L	OMIM:618331
HP:0002376	Developmental regression	84188	FAR1	OMIM:616154
HP:0002376	Developmental regression	2581	GALC	OMIM:245200
HP:0002376	Developmental regression	2581	GALC	ORPHA:206443
HP:0002376	Developmental regression	4204	MECP2	OMIM:312750
HP:0002376	Developmental regression	4204	MECP2	ORPHA:3095
HP:0002376	Developmental regression	4204	MECP2	ORPHA:778
HP:0002376	Developmental regression	4204	MECP2	OMIM:300260
HP:0002376	Developmental regression	10535	RNASEH2A	ORPHA:51
HP:0002376	Developmental regression	84153	RNASEH2C	ORPHA:51
HP:0002376	Developmental regression	25939	SAMHD1	ORPHA:51
HP:0002376	Developmental regression	79621	RNASEH2B	ORPHA:51
HP:0002376	Developmental regression	11277	TREX1	ORPHA:51
HP:0002376	Developmental regression	100147744	RNU7-1	ORPHA:51
HP:0002376	Developmental regression	134353	LSM11	ORPHA:51
HP:0002376	Developmental regression	3736	KCNA1	ORPHA:1934
HP:0002376	Developmental regression	9091	PIGQ	ORPHA:1934
HP:0002376	Developmental regression	2775	GNAO1	ORPHA:1934
HP:0002376	Developmental regression	81603	TRIM8	ORPHA:1934
HP:0002376	Developmental regression	2902	GRIN1	ORPHA:1934
HP:0002376	Developmental regression	2902	GRIN1	ORPHA:208447
HP:0002376	Developmental regression	79751	SLC25A22	ORPHA:1934
HP:0002376	Developmental regression	8573	CASK	ORPHA:1934
HP:0002376	Developmental regression	23312	DMXL2	ORPHA:1934
HP:0002376	Developmental regression	2917	GRM7	ORPHA:1934
HP:0002376	Developmental regression	11284	PNKP	ORPHA:1934
HP:0002376	Developmental regression	51227	PIGP	ORPHA:1934
HP:0002376	Developmental regression	4761	NEUROD2	ORPHA:1934
HP:0002376	Developmental regression	2068	ERCC2	ORPHA:910
HP:0002376	Developmental regression	7507	XPA	ORPHA:910
HP:0002376	Developmental regression	2071	ERCC3	ORPHA:910
HP:0002376	Developmental regression	7508	XPC	ORPHA:910
HP:0002376	Developmental regression	1643	DDB2	ORPHA:910
HP:0002376	Developmental regression	2072	ERCC4	ORPHA:910
HP:0002376	Developmental regression	2073	ERCC5	ORPHA:910
HP:0002376	Developmental regression	55703	POLR3B	OMIM:607694
HP:0002376	Developmental regression	149233	IL23R	ORPHA:117
HP:0002376	Developmental regression	6775	STAT4	ORPHA:117
HP:0002376	Developmental regression	3586	IL10	ORPHA:117
HP:0002376	Developmental regression	4210	MEFV	ORPHA:117
HP:0002376	Developmental regression	1230	CCR1	ORPHA:117
HP:0002376	Developmental regression	355	FAS	ORPHA:117
HP:0002376	Developmental regression	3592	IL12A	ORPHA:117
HP:0002376	Developmental regression	101928376	IL12A-AS1	ORPHA:117
HP:0002376	Developmental regression	3106	HLA-B	ORPHA:117
HP:0002376	Developmental regression	7099	TLR4	ORPHA:117
HP:0002376	Developmental regression	3459	IFNGR1	ORPHA:117
HP:0002376	Developmental regression	720	C4A	ORPHA:117
HP:0002376	Developmental regression	337867	UBAC2	ORPHA:117
HP:0002376	Developmental regression	51752	ERAP1	ORPHA:117
HP:0002376	Developmental regression	8302	KLRC4	ORPHA:117
HP:0002376	Developmental regression	11160	ERLIN2	ORPHA:280384
HP:0002376	Developmental regression	2639	GCDH	ORPHA:25
HP:0002376	Developmental regression	55217	TMLHE	OMIM:300872
HP:0002376	Developmental regression	10059	DNM1L	ORPHA:330050
HP:0002376	Developmental regression	374291	NDUFS7	OMIM:618224
HP:0002376	Developmental regression	4723	NDUFV1	OMIM:618225
HP:0002376	Developmental regression	23516	SLC39A14	OMIM:617013
HP:0002376	Developmental regression	23516	SLC39A14	ORPHA:521406
HP:0002376	Developmental regression	2290	FOXG1	OMIM:613454
HP:0002376	Developmental regression	2290	FOXG1	ORPHA:261144
HP:0002376	Developmental regression	4719	NDUFS1	OMIM:618226
HP:0002376	Developmental regression	4720	NDUFS2	OMIM:618228
HP:0002376	Developmental regression	4720	NDUFS2	ORPHA:70474
HP:0002376	Developmental regression	4729	NDUFV2	OMIM:618229
HP:0002376	Developmental regression	959	CD40LG	OMIM:308230
HP:0002376	Developmental regression	26115	TANC2	OMIM:618906
HP:0002376	Developmental regression	22854	NTNG1	ORPHA:3095
HP:0002376	Developmental regression	8243	SMC1A	ORPHA:3095
HP:0002376	Developmental regression	57526	PCDH19	OMIM:300088
HP:0002376	Developmental regression	57526	PCDH19	ORPHA:33069
HP:0002376	Developmental regression	5515	PPP2CA	OMIM:618354
HP:0002376	Developmental regression	23102	TBC1D2B	OMIM:619323
HP:0002376	Developmental regression	4695	NDUFA2	OMIM:618235
HP:0002376	Developmental regression	79587	CARS2	ORPHA:477774
HP:0002376	Developmental regression	29998	BICRA	OMIM:619325
HP:0002376	Developmental regression	6651	SON	OMIM:617140
HP:0002376	Developmental regression	6651	SON	ORPHA:500150
HP:0002376	Developmental regression	51601	LIPT1	OMIM:616299
HP:0002376	Developmental regression	6905	TBCE	ORPHA:496756
HP:0002376	Developmental regression	80347	COASY	OMIM:615643
HP:0002376	Developmental regression	112939	NACC1	ORPHA:500545
HP:0002376	Developmental regression	57505	AARS2	OMIM:615889
HP:0002376	Developmental regression	137682	NDUFAF6	OMIM:618239
HP:0002376	Developmental regression	2720	GLB1	ORPHA:79255
HP:0002376	Developmental regression	79944	L2HGDH	OMIM:236792
HP:0002376	Developmental regression	8869	ST3GAL5	OMIM:609056
HP:0002376	Developmental regression	6904	TBCD	ORPHA:496641
HP:0002376	Developmental regression	6904	TBCD	OMIM:617193
HP:0002376	Developmental regression	427	ASAH1	ORPHA:333
HP:0002376	Developmental regression	3192	HNRNPU	OMIM:617391
HP:0002376	Developmental regression	7084	TK2	ORPHA:254875
HP:0002376	Developmental regression	2560	GABRB1	OMIM:617153
HP:0002376	Developmental regression	23221	RHOBTB2	OMIM:618004
HP:0002376	Developmental regression	9512	PMPCB	OMIM:617954
HP:0002376	Developmental regression	23229	ARHGEF9	ORPHA:163985
HP:0002376	Developmental regression	23229	ARHGEF9	OMIM:300607
HP:0002376	Developmental regression	2058	EPRS1	OMIM:617951
HP:0002376	Developmental regression	9378	NRXN1	OMIM:614325
HP:0002376	Developmental regression	29920	PYCR2	ORPHA:481152
HP:0002376	Developmental regression	819	CAMLG	OMIM:620201
HP:0002376	Developmental regression	259232	NALCN	OMIM:615419
HP:0002376	Developmental regression	2717	GLA	ORPHA:324
HP:0002376	Developmental regression	128989	TANGO2	ORPHA:480864
HP:0002376	Developmental regression	538	ATP7A	ORPHA:565
HP:0002376	Developmental regression	538	ATP7A	OMIM:309400
HP:0002376	Developmental regression	191	AHCY	ORPHA:88618
HP:0002376	Developmental regression	5903	RANBP2	ORPHA:88619
HP:0002376	Developmental regression	3188	HNRNPH2	OMIM:300986
HP:0002376	Developmental regression	23152	CIC	OMIM:617600
HP:0002376	Developmental regression	175	AGA	OMIM:208400
HP:0002376	Developmental regression	6304	SATB1	OMIM:619228
HP:0002376	Developmental regression	6304	SATB1	OMIM:619229
HP:0002376	Developmental regression	57531	HACE1	OMIM:616756
HP:0002376	Developmental regression	27010	TPK1	OMIM:614458
HP:0002376	Developmental regression	4758	NEU1	ORPHA:93400
HP:0002376	Developmental regression	55697	VAC14	OMIM:617054
HP:0002376	Developmental regression	10526	IPO8	OMIM:619472
HP:0002376	Developmental regression	23316	CUX2	OMIM:618141
HP:0002376	Developmental regression	6812	STXBP1	OMIM:612164
HP:0002376	Developmental regression	6711	SPTBN1	OMIM:619475
HP:0002376	Developmental regression	81689	ISCA1	OMIM:617613
HP:0002376	Developmental regression	57468	SLC12A5	OMIM:616645
HP:0002376	Developmental regression	2517	FUCA1	OMIM:230000
HP:0002376	Developmental regression	7305	TYROBP	ORPHA:2770
HP:0002376	Developmental regression	54209	TREM2	ORPHA:2770
HP:0002376	Developmental regression	29926	GMPPA	ORPHA:869
HP:0002376	Developmental regression	60684	TRAPPC11	ORPHA:869
HP:0002376	Developmental regression	8086	AAAS	ORPHA:869
HP:0002376	Developmental regression	2554	GABRA1	ORPHA:33069
HP:0002376	Developmental regression	8936	WASF1	OMIM:618707
HP:0002376	Developmental regression	10128	LRPPRC	ORPHA:70472
HP:0002376	Developmental regression	25915	NDUFAF3	ORPHA:70474
HP:0002376	Developmental regression	4714	NDUFB8	ORPHA:70474
HP:0002376	Developmental regression	9997	SCO2	ORPHA:70474
HP:0002376	Developmental regression	374879	ZNF699	OMIM:619488
HP:0002376	Developmental regression	128240	NAXE	OMIM:617186
HP:0002376	Developmental regression	2760	GM2A	ORPHA:309246
HP:0002376	Developmental regression	84340	GFM2	OMIM:618397
HP:0002376	Developmental regression	23287	AGTPBP1	OMIM:618276
HP:0002376	Developmental regression	1200	TPP1	OMIM:204500
HP:0002376	Developmental regression	7284	TUFM	OMIM:610678
HP:0002376	Developmental regression	2593	GAMT	OMIM:612736
HP:0002376	Developmental regression	84628	NTNG2	OMIM:618718
HP:0002376	Developmental regression	5264	PHYH	ORPHA:773
HP:0002376	Developmental regression	5191	PEX7	ORPHA:773
HP:0002376	Developmental regression	26137	ZBTB20	ORPHA:3042
HP:0002376	Developmental regression	57107	PDSS2	ORPHA:255249
HP:0002376	Developmental regression	27235	COQ2	ORPHA:255249
HP:0002376	Developmental regression	10479	SLC9A6	ORPHA:85278
HP:0002376	Developmental regression	777	CACNA1E	OMIM:618285
HP:0002376	Developmental regression	200205	IBA57	OMIM:615330
HP:0002376	Developmental regression	1203	CLN5	OMIM:256731
HP:0002376	Developmental regression	4724	NDUFS4	OMIM:252010
HP:0002376	Developmental regression	4668	NAGA	OMIM:609241
HP:0002376	Developmental regression	4668	NAGA	ORPHA:79279
HP:0002376	Developmental regression	131118	DNAJC19	ORPHA:66634
HP:0002376	Developmental regression	10312	TCIRG1	ORPHA:1782
HP:0002376	Developmental regression	55315	SLC29A3	ORPHA:1782
HP:0002376	Developmental regression	8792	TNFRSF11A	ORPHA:1782
HP:0002376	Developmental regression	25974	MMACHC	ORPHA:79282
HP:0002376	Developmental regression	4693	NDP	ORPHA:649
HP:0002376	Developmental regression	124454	EARS2	OMIM:614924
HP:0002376	Developmental regression	54936	ADPRS	OMIM:618170
HP:0002376	Developmental regression	3735	KARS1	OMIM:619147
HP:0002376	Developmental regression	84842	HPDL	OMIM:619026
HP:0002376	Developmental regression	8665	EIF3F	OMIM:618295
HP:0002376	Developmental regression	55331	ACER3	OMIM:617762
HP:0002376	Developmental regression	341208	HEPHL1	OMIM:261990
HP:0002376	Developmental regression	25886	POC1A	OMIM:614813
HP:0002376	Developmental regression	55294	FBXW7	OMIM:620012
HP:0002376	Developmental regression	26275	HIBCH	OMIM:250620
HP:0002376	Developmental regression	65055	REEP1	OMIM:620011
HP:0002376	Developmental regression	128	ADH5	OMIM:619151
HP:0002376	Developmental regression	51611	DPH5	OMIM:620070
HP:0002376	Developmental regression	84265	POLR3GL	OMIM:619234
HP:0002376	Developmental regression	79991	STN1	OMIM:617341
HP:0002376	Developmental regression	122553	TRAPPC6B	OMIM:617862
HP:0002376	Developmental regression	4700	NDUFA6	OMIM:618253
HP:0002376	Developmental regression	51728	POLR3K	OMIM:619310
HP:0002376	Developmental regression	1355	COX15	OMIM:615119
HP:0002376	Developmental regression	3295	HSD17B4	OMIM:261515
HP:0002376	Developmental regression	85465	SELENOI	OMIM:618768
HP:0002376	Developmental regression	54902	TTC19	OMIM:615157
HP:0001344	Absent speech	2137	EXTL3	ORPHA:508533
HP:0001344	Absent speech	7528	YY1	ORPHA:506358
HP:0001344	Absent speech	29925	GMPPB	OMIM:615350
HP:0001344	Absent speech	104	ADARB1	OMIM:618862
HP:0001344	Absent speech	340533	NEXMIF	OMIM:300912
HP:0001344	Absent speech	340533	NEXMIF	ORPHA:85277
HP:0001344	Absent speech	55823	VPS11	OMIM:616683
HP:0001344	Absent speech	55823	VPS11	ORPHA:466934
HP:0001344	Absent speech	2775	GNAO1	OMIM:615473
HP:0001344	Absent speech	2775	GNAO1	OMIM:617493
HP:0001344	Absent speech	51569	UFM1	OMIM:617899
HP:0001344	Absent speech	23334	SZT2	OMIM:615476
HP:0001344	Absent speech	9254	CACNA2D2	OMIM:618501
HP:0001344	Absent speech	7360	UGP2	OMIM:618744
HP:0001344	Absent speech	81570	CLPB	OMIM:619835
HP:0001344	Absent speech	79848	CSPP1	ORPHA:397715
HP:0001344	Absent speech	9786	KIAA0586	ORPHA:397715
HP:0001344	Absent speech	6873	TAF2	ORPHA:397951
HP:0001344	Absent speech	65993	MRPS34	OMIM:617664
HP:0001344	Absent speech	80816	ASXL3	OMIM:615485
HP:0001344	Absent speech	80816	ASXL3	ORPHA:352577
HP:0001344	Absent speech	283489	CHAMP1	OMIM:616579
HP:0001344	Absent speech	387787	LIPT2	OMIM:617668
HP:0001344	Absent speech	477	ATP1A2	OMIM:619605
HP:0001344	Absent speech	51111	KMT5B	OMIM:617788
HP:0001344	Absent speech	166378	AFG2A	OMIM:616577
HP:0001344	Absent speech	65082	VPS33A	OMIM:617303
HP:0001344	Absent speech	65082	VPS33A	ORPHA:505248
HP:0001344	Absent speech	10730	YME1L1	OMIM:617302
HP:0001344	Absent speech	55690	PACS1	OMIM:615009
HP:0001344	Absent speech	55690	PACS1	ORPHA:329224
HP:0001344	Absent speech	10565	ARFGEF1	OMIM:619964
HP:0001344	Absent speech	5610	EIF2AK2	OMIM:618877
HP:0001344	Absent speech	28960	DCPS	OMIM:616459
HP:0001344	Absent speech	55768	NGLY1	ORPHA:404454
HP:0001344	Absent speech	7086	TKT	ORPHA:488618
HP:0001344	Absent speech	7086	TKT	OMIM:617044
HP:0001344	Absent speech	57231	SNX14	ORPHA:397709
HP:0001344	Absent speech	57231	SNX14	OMIM:616354
HP:0001344	Absent speech	55650	PIGV	OMIM:239300
HP:0001344	Absent speech	3190	HNRNPK	OMIM:616580
HP:0001344	Absent speech	5832	ALDH18A1	OMIM:616586
HP:0001344	Absent speech	5832	ALDH18A1	OMIM:219150
HP:0001344	Absent speech	55870	ASH1L	OMIM:617796
HP:0001344	Absent speech	7343	UBTF	OMIM:617672
HP:0001344	Absent speech	7343	UBTF	ORPHA:500180
HP:0001344	Absent speech	150094	SIK1	OMIM:616341
HP:0001344	Absent speech	816	CAMK2B	OMIM:617799
HP:0001344	Absent speech	815	CAMK2A	OMIM:617798
HP:0001344	Absent speech	815	CAMK2A	OMIM:618095
HP:0001344	Absent speech	1759	DNM1	OMIM:616346
HP:0001344	Absent speech	3064	HTT	OMIM:617435
HP:0001344	Absent speech	81857	MED25	ORPHA:464738
HP:0001344	Absent speech	2770	GNAI1	OMIM:619854
HP:0001344	Absent speech	170825	GSX2	OMIM:618646
HP:0001344	Absent speech	7920	ABHD16A	OMIM:619735
HP:0001344	Absent speech	8560	DEGS1	OMIM:618404
HP:0001344	Absent speech	83480	PUS3	ORPHA:488627
HP:0001344	Absent speech	5354	PLP1	ORPHA:280210
HP:0001344	Absent speech	23096	IQSEC2	ORPHA:397933
HP:0001344	Absent speech	652	BMP4	OMIM:607932
HP:0001344	Absent speech	283987	HID1	OMIM:619983
HP:0001344	Absent speech	22884	WDR37	OMIM:618652
HP:0001344	Absent speech	1193	CLIC2	ORPHA:324410
HP:0001344	Absent speech	1193	CLIC2	OMIM:300886
HP:0001344	Absent speech	5442	POLRMT	OMIM:619743
HP:0001344	Absent speech	5528	PPP2R5D	OMIM:616355
HP:0001344	Absent speech	5528	PPP2R5D	ORPHA:457279
HP:0001344	Absent speech	23327	NEDD4L	OMIM:617201
HP:0001344	Absent speech	54872	PIGG	ORPHA:488635
HP:0001344	Absent speech	54872	PIGG	OMIM:616917
HP:0001344	Absent speech	28514	DLL1	ORPHA:93926
HP:0001344	Absent speech	28514	DLL1	ORPHA:93924
HP:0001344	Absent speech	28514	DLL1	ORPHA:93925
HP:0001344	Absent speech	28514	DLL1	ORPHA:220386
HP:0001344	Absent speech	2253	FGF8	ORPHA:93926
HP:0001344	Absent speech	2253	FGF8	ORPHA:93924
HP:0001344	Absent speech	2253	FGF8	ORPHA:93925
HP:0001344	Absent speech	2253	FGF8	ORPHA:220386
HP:0001344	Absent speech	6496	SIX3	ORPHA:93926
HP:0001344	Absent speech	6496	SIX3	ORPHA:93924
HP:0001344	Absent speech	6496	SIX3	ORPHA:93925
HP:0001344	Absent speech	6496	SIX3	ORPHA:220386
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93926
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93924
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93925
HP:0001344	Absent speech	7050	TGIF1	ORPHA:220386
HP:0001344	Absent speech	4838	NODAL	ORPHA:93926
HP:0001344	Absent speech	4838	NODAL	ORPHA:93924
HP:0001344	Absent speech	4838	NODAL	ORPHA:93925
HP:0001344	Absent speech	4838	NODAL	ORPHA:220386
HP:0001344	Absent speech	6469	SHH	ORPHA:93926
HP:0001344	Absent speech	6469	SHH	ORPHA:93924
HP:0001344	Absent speech	6469	SHH	ORPHA:93925
HP:0001344	Absent speech	6469	SHH	ORPHA:220386
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93926
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93924
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93925
HP:0001344	Absent speech	7546	ZIC2	ORPHA:220386
HP:0001344	Absent speech	6491	STIL	ORPHA:93926
HP:0001344	Absent speech	6491	STIL	ORPHA:93924
HP:0001344	Absent speech	6491	STIL	ORPHA:93925
HP:0001344	Absent speech	6491	STIL	OMIM:612703
HP:0001344	Absent speech	6491	STIL	ORPHA:220386
HP:0001344	Absent speech	2619	GAS1	ORPHA:93926
HP:0001344	Absent speech	2619	GAS1	ORPHA:93924
HP:0001344	Absent speech	2619	GAS1	ORPHA:93925
HP:0001344	Absent speech	2619	GAS1	ORPHA:220386
HP:0001344	Absent speech	84976	DISP1	ORPHA:93926
HP:0001344	Absent speech	84976	DISP1	ORPHA:93924
HP:0001344	Absent speech	84976	DISP1	ORPHA:93925
HP:0001344	Absent speech	84976	DISP1	ORPHA:220386
HP:0001344	Absent speech	2736	GLI2	ORPHA:93926
HP:0001344	Absent speech	2736	GLI2	ORPHA:93924
HP:0001344	Absent speech	2736	GLI2	ORPHA:93925
HP:0001344	Absent speech	2736	GLI2	ORPHA:220386
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93926
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93924
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93925
HP:0001344	Absent speech	8928	FOXH1	ORPHA:220386
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93926
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93924
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93925
HP:0001344	Absent speech	5727	PTCH1	ORPHA:220386
HP:0001344	Absent speech	50937	CDON	ORPHA:93926
HP:0001344	Absent speech	50937	CDON	ORPHA:93924
HP:0001344	Absent speech	50937	CDON	ORPHA:93925
HP:0001344	Absent speech	50937	CDON	ORPHA:220386
HP:0001344	Absent speech	2260	FGFR1	ORPHA:93924
HP:0001344	Absent speech	2260	FGFR1	ORPHA:220386
HP:0001344	Absent speech	23007	PLCH1	ORPHA:93925
HP:0001344	Absent speech	10735	STAG2	ORPHA:93925
HP:0001344	Absent speech	10735	STAG2	ORPHA:220386
HP:0001344	Absent speech	6905	TBCE	OMIM:617207
HP:0001344	Absent speech	5518	PPP2R1A	OMIM:616362
HP:0001344	Absent speech	5518	PPP2R1A	ORPHA:457284
HP:0001344	Absent speech	1182	CLCN3	OMIM:619512
HP:0001344	Absent speech	1182	CLCN3	OMIM:619517
HP:0001344	Absent speech	3737	KCNA2	OMIM:616366
HP:0001344	Absent speech	84879	MFSD2A	OMIM:616486
HP:0001344	Absent speech	27089	UQCRQ	OMIM:615159
HP:0001344	Absent speech	8363	H4C11	OMIM:619759
HP:0001344	Absent speech	92609	TIMM50	OMIM:617698
HP:0001344	Absent speech	92609	TIMM50	ORPHA:505216
HP:0001344	Absent speech	4191	MDH2	OMIM:617339
HP:0001344	Absent speech	5590	PRKCZ	ORPHA:1606
HP:0001344	Absent speech	2563	GABRD	ORPHA:1606
HP:0001344	Absent speech	23013	SPEN	ORPHA:1606
HP:0001344	Absent speech	23013	SPEN	OMIM:619312
HP:0001344	Absent speech	8510	MMP23B	ORPHA:1606
HP:0001344	Absent speech	7798	LUZP1	ORPHA:1606
HP:0001344	Absent speech	6497	SKI	ORPHA:1606
HP:0001344	Absent speech	10630	PDPN	ORPHA:1606
HP:0001344	Absent speech	3339	HSPG2	ORPHA:1606
HP:0001344	Absent speech	10277	UBE4B	ORPHA:1606
HP:0001344	Absent speech	8514	KCNAB2	ORPHA:1606
HP:0001344	Absent speech	473	RERE	ORPHA:1606
HP:0001344	Absent speech	63976	PRDM16	ORPHA:1606
HP:0001344	Absent speech	54897	CASZ1	ORPHA:1606
HP:0001344	Absent speech	6134	RPL10	ORPHA:459070
HP:0001344	Absent speech	6638	SNRPN	OMIM:105830
HP:0001344	Absent speech	6638	SNRPN	ORPHA:177907
HP:0001344	Absent speech	6638	SNRPN	ORPHA:411515
HP:0001344	Absent speech	7337	UBE3A	OMIM:105830
HP:0001344	Absent speech	7337	UBE3A	ORPHA:98794
HP:0001344	Absent speech	7337	UBE3A	ORPHA:411515
HP:0001344	Absent speech	1859	DYRK1A	ORPHA:464311
HP:0001344	Absent speech	1859	DYRK1A	ORPHA:268261
HP:0001344	Absent speech	3766	KCNJ10	ORPHA:199343
HP:0001344	Absent speech	51633	OTUD6B	ORPHA:505237
HP:0001344	Absent speech	54828	BCAS3	OMIM:619641
HP:0001344	Absent speech	3800	KIF5C	OMIM:615282
HP:0001344	Absent speech	122961	ISCA2	OMIM:616370
HP:0001344	Absent speech	253959	RALGAPA1	OMIM:618797
HP:0001344	Absent speech	10991	SLC38A3	OMIM:619881
HP:0001344	Absent speech	2904	GRIN2B	OMIM:616139
HP:0001344	Absent speech	6506	SLC1A2	OMIM:617105
HP:0001344	Absent speech	25973	PARS2	OMIM:618437
HP:0001344	Absent speech	9562	MINPP1	OMIM:619527
HP:0001344	Absent speech	6925	TCF4	OMIM:610954
HP:0001344	Absent speech	6925	TCF4	ORPHA:2896
HP:0001344	Absent speech	2258	FGF13	OMIM:301095
HP:0001344	Absent speech	57192	MCOLN1	ORPHA:578
HP:0001344	Absent speech	57192	MCOLN1	OMIM:252650
HP:0001344	Absent speech	10667	FARS2	ORPHA:466722
HP:0001344	Absent speech	23314	SATB2	ORPHA:576283
HP:0001344	Absent speech	23314	SATB2	ORPHA:251028
HP:0001344	Absent speech	23556	PIGN	OMIM:614080
HP:0001344	Absent speech	7030	TFE3	OMIM:301066
HP:0001344	Absent speech	9922	IQSEC1	OMIM:618687
HP:0001344	Absent speech	284098	PIGW	OMIM:616025
HP:0001344	Absent speech	388662	SLC6A17	OMIM:616269
HP:0001344	Absent speech	64919	BCL11B	OMIM:617237
HP:0001344	Absent speech	7994	KAT6A	OMIM:616268
HP:0001344	Absent speech	51227	PIGP	OMIM:617599
HP:0001344	Absent speech	23499	MACF1	OMIM:618325
HP:0001344	Absent speech	51322	WAC	ORPHA:466950
HP:0001344	Absent speech	6595	SMARCA2	OMIM:601358
HP:0001344	Absent speech	10533	ATG7	OMIM:619422
HP:0001344	Absent speech	51645	PPIL1	OMIM:619301
HP:0001344	Absent speech	8295	TRRAP	OMIM:618454
HP:0001344	Absent speech	1917	EEF1A2	OMIM:616393
HP:0001344	Absent speech	1917	EEF1A2	OMIM:616409
HP:0001344	Absent speech	54903	MKS1	OMIM:249000
HP:0001344	Absent speech	58497	PRUNE1	OMIM:617481
HP:0001344	Absent speech	58497	PRUNE1	ORPHA:544469
HP:0001344	Absent speech	26173	INTS1	OMIM:618571
HP:0001344	Absent speech	55656	INTS8	OMIM:618572
HP:0001344	Absent speech	3658	IREB2	OMIM:618451
HP:0001344	Absent speech	51693	TRAPPC2L	OMIM:618331
HP:0001344	Absent speech	5813	PURA	OMIM:616158
HP:0001344	Absent speech	6857	SYT1	OMIM:618218
HP:0001344	Absent speech	6857	SYT1	ORPHA:522077
HP:0001344	Absent speech	81603	TRIM8	OMIM:619428
HP:0001344	Absent speech	5277	PIGA	OMIM:301072
HP:0001344	Absent speech	5277	PIGA	OMIM:300868
HP:0001344	Absent speech	8905	AP1S2	OMIM:304340
HP:0001344	Absent speech	11160	ERLIN2	ORPHA:280384
HP:0001344	Absent speech	11160	ERLIN2	ORPHA:209951
HP:0001344	Absent speech	11160	ERLIN2	OMIM:611225
HP:0001344	Absent speech	84706	GPT2	OMIM:616281
HP:0001344	Absent speech	10059	DNM1L	ORPHA:330050
HP:0001344	Absent speech	8925	HERC1	OMIM:617011
HP:0001344	Absent speech	8925	HERC1	ORPHA:457359
HP:0001344	Absent speech	5898	RALA	OMIM:619311
HP:0001344	Absent speech	79876	UBA5	OMIM:617132
HP:0001344	Absent speech	84894	LINGO1	OMIM:618103
HP:0001344	Absent speech	9759	HDAC4	OMIM:619797
HP:0001344	Absent speech	10785	WDR4	OMIM:618346
HP:0001344	Absent speech	30000	TNPO2	OMIM:619556
HP:0001344	Absent speech	56896	DPYSL5	OMIM:619435
HP:0001344	Absent speech	54892	NCAPG2	OMIM:618460
HP:0001344	Absent speech	23516	SLC39A14	OMIM:617013
HP:0001344	Absent speech	160418	TMTC3	OMIM:617255
HP:0001344	Absent speech	51728	POLR3K	OMIM:619310
HP:0001344	Absent speech	8573	CASK	OMIM:300749
HP:0001344	Absent speech	8573	CASK	ORPHA:163937
HP:0001344	Absent speech	92335	STRADA	ORPHA:500533
HP:0001344	Absent speech	92335	STRADA	OMIM:611087
HP:0001344	Absent speech	51412	ACTL6B	OMIM:618468
HP:0001344	Absent speech	51412	ACTL6B	OMIM:618470
HP:0001344	Absent speech	8818	DPM2	ORPHA:329178
HP:0001344	Absent speech	6323	SCN1A	OMIM:619317
HP:0001344	Absent speech	9526	MPDU1	OMIM:609180
HP:0001344	Absent speech	1605	DAG1	ORPHA:370997
HP:0001344	Absent speech	1605	DAG1	OMIM:616538
HP:0001344	Absent speech	10733	PLK4	OMIM:616171
HP:0001344	Absent speech	1387	CREBBP	ORPHA:353281
HP:0001344	Absent speech	1387	CREBBP	ORPHA:353277
HP:0001344	Absent speech	11277	TREX1	OMIM:225750
HP:0001344	Absent speech	6647	SOD1	OMIM:618598
HP:0001344	Absent speech	3745	KCNB1	OMIM:616056
HP:0001344	Absent speech	4081	MAB21L1	OMIM:618479
HP:0001344	Absent speech	2033	EP300	ORPHA:353284
HP:0001344	Absent speech	443	ASPA	ORPHA:314911
HP:0001344	Absent speech	154881	KCTD7	OMIM:611726
HP:0001344	Absent speech	29954	POMT2	OMIM:236670
HP:0001344	Absent speech	9215	LARGE1	OMIM:236670
HP:0001344	Absent speech	79147	FKRP	OMIM:236670
HP:0001344	Absent speech	10585	POMT1	OMIM:236670
HP:0001344	Absent speech	10585	POMT1	OMIM:613155
HP:0001344	Absent speech	2218	FKTN	OMIM:236670
HP:0001344	Absent speech	4204	MECP2	ORPHA:778
HP:0001344	Absent speech	4204	MECP2	OMIM:300055
HP:0001344	Absent speech	4204	MECP2	OMIM:300260
HP:0001344	Absent speech	8869	ST3GAL5	OMIM:609056
HP:0001344	Absent speech	6904	TBCD	ORPHA:496641
HP:0001344	Absent speech	6904	TBCD	OMIM:617193
HP:0001344	Absent speech	4948	OCA2	ORPHA:98794
HP:0001344	Absent speech	3192	HNRNPU	OMIM:617391
HP:0001344	Absent speech	55250	ELP2	OMIM:617270
HP:0001344	Absent speech	84340	GFM2	ORPHA:565624
HP:0001344	Absent speech	56915	EXOSC5	OMIM:619576
HP:0001344	Absent speech	23221	RHOBTB2	OMIM:618004
HP:0001344	Absent speech	112939	NACC1	OMIM:617393
HP:0001344	Absent speech	6601	SMARCC2	OMIM:618362
HP:0001344	Absent speech	6601	SMARCC2	ORPHA:1465
HP:0001344	Absent speech	55572	FOXRED1	OMIM:618241
HP:0001344	Absent speech	8120	AP3B2	OMIM:617276
HP:0001344	Absent speech	7965	AIMP2	OMIM:618006
HP:0001344	Absent speech	3376	IARS1	ORPHA:541423
HP:0001344	Absent speech	3376	IARS1	OMIM:617093
HP:0001344	Absent speech	26999	CYFIP2	OMIM:618008
HP:0001344	Absent speech	29920	PYCR2	ORPHA:481152
HP:0001344	Absent speech	29920	PYCR2	OMIM:616420
HP:0001344	Absent speech	51608	GET4	OMIM:620200
HP:0001344	Absent speech	8604	SLC25A12	OMIM:612949
HP:0001344	Absent speech	6821	SUOX	OMIM:272300
HP:0001344	Absent speech	2898	GRIK2	OMIM:619580
HP:0001344	Absent speech	80311	KLHL15	OMIM:300982
HP:0001344	Absent speech	7703	PCGF2	OMIM:618371
HP:0001344	Absent speech	7319	UBE2A	OMIM:300860
HP:0001344	Absent speech	23258	DENND5A	OMIM:617281
HP:0001344	Absent speech	774	CACNA1B	OMIM:618497
HP:0001344	Absent speech	5631	PRPS1	OMIM:301835
HP:0001344	Absent speech	2906	GRIN2D	OMIM:617162
HP:0001344	Absent speech	9758	FRMPD4	OMIM:300983
HP:0001344	Absent speech	389856	USP27X	OMIM:300984
HP:0001344	Absent speech	1822	ATN1	OMIM:618494
HP:0001344	Absent speech	26040	SETBP1	OMIM:616078
HP:0001344	Absent speech	3188	HNRNPH2	OMIM:300986
HP:0001344	Absent speech	523	ATP6V1A	OMIM:618012
HP:0001344	Absent speech	2257	FGF12	OMIM:617166
HP:0001344	Absent speech	6304	SATB1	OMIM:619229
HP:0001344	Absent speech	220296	HEPACAM	OMIM:613926
HP:0001344	Absent speech	79718	TBL1XR1	ORPHA:487825
HP:0001344	Absent speech	3028	HSD17B10	ORPHA:391428
HP:0001344	Absent speech	6611	SMS	ORPHA:3063
HP:0001344	Absent speech	10522	DEAF1	OMIM:617171
HP:0001344	Absent speech	10522	DEAF1	ORPHA:468620
HP:0001344	Absent speech	5281	PIGF	OMIM:619356
HP:0001344	Absent speech	2290	FOXG1	ORPHA:261144
HP:0001344	Absent speech	2290	FOXG1	OMIM:613454
HP:0001344	Absent speech	57003	CCDC47	OMIM:618268
HP:0001344	Absent speech	94005	PIGS	OMIM:618143
HP:0001344	Absent speech	6711	SPTBN1	OMIM:619475
HP:0001344	Absent speech	80036	TRPM3	OMIM:620224
HP:0001344	Absent speech	11198	SUPT16H	OMIM:619480
HP:0001344	Absent speech	10682	EBP	OMIM:300960
HP:0001344	Absent speech	1457	CSNK2A1	OMIM:617062
HP:0001344	Absent speech	10681	GNB5	OMIM:617182
HP:0001344	Absent speech	10681	GNB5	ORPHA:542306
HP:0001344	Absent speech	100147744	RNU7-1	OMIM:619487
HP:0001344	Absent speech	57477	SHROOM4	ORPHA:85288
HP:0001344	Absent speech	22983	MAST1	OMIM:618273
HP:0001344	Absent speech	2566	GABRG2	OMIM:618396
HP:0001344	Absent speech	91875	TTC5	OMIM:619244
HP:0001344	Absent speech	23287	AGTPBP1	OMIM:618276
HP:0001344	Absent speech	79143	MBOAT7	OMIM:617188
HP:0001344	Absent speech	8450	CUL4B	ORPHA:85293
HP:0001344	Absent speech	8450	CUL4B	OMIM:300354
HP:0001344	Absent speech	57038	RARS2	OMIM:611523
HP:0001344	Absent speech	498	ATP5F1A	OMIM:620358
HP:0001344	Absent speech	118924	FRA10AC1	OMIM:620113
HP:0001344	Absent speech	8911	CACNA1I	OMIM:620114
HP:0001344	Absent speech	2799	GNS	OMIM:252940
HP:0001344	Absent speech	2593	GAMT	OMIM:612736
HP:0001344	Absent speech	10479	SLC9A6	ORPHA:85278
HP:0001344	Absent speech	10479	SLC9A6	OMIM:300243
HP:0001344	Absent speech	777	CACNA1E	OMIM:618285
HP:0001344	Absent speech	1315	COPB1	OMIM:619255
HP:0001344	Absent speech	55835	CENPJ	OMIM:608393
HP:0001344	Absent speech	55005	RMND1	OMIM:614922
HP:0001344	Absent speech	84081	NSRP1	OMIM:620001
HP:0001344	Absent speech	124454	EARS2	OMIM:614924
HP:0001344	Absent speech	10079	ATP9A	OMIM:620242
HP:0001344	Absent speech	1795	DOCK3	OMIM:618292
HP:0001344	Absent speech	60684	TRAPPC11	ORPHA:369840
HP:0001344	Absent speech	3735	KARS1	OMIM:619147
HP:0001344	Absent speech	27072	VPS41	OMIM:619389
HP:0001344	Absent speech	56947	MFF	OMIM:617086
HP:0001344	Absent speech	8665	EIF3F	OMIM:618295
HP:0001344	Absent speech	1496	CTNNA2	OMIM:618174
HP:0001344	Absent speech	221927	BRAT1	OMIM:618056
HP:0001344	Absent speech	87178	PNPT1	OMIM:614932
HP:0001344	Absent speech	87178	PNPT1	ORPHA:319514
HP:0001344	Absent speech	284111	SLC13A5	OMIM:615905
HP:0001344	Absent speech	199857	ALG14	OMIM:619031
HP:0001344	Absent speech	27183	VPS4A	OMIM:619273
HP:0001344	Absent speech	1183	CLCN4	OMIM:300114
HP:0001344	Absent speech	55503	TRPV6	OMIM:618188
HP:0001344	Absent speech	7109	TRAPPC10	OMIM:620027
HP:0001344	Absent speech	347734	SLC35B2	OMIM:620269
HP:0001344	Absent speech	781	CACNA2D1	OMIM:620149
HP:0001344	Absent speech	55325	UFSP2	OMIM:620028
HP:0001344	Absent speech	1119	CHKA	OMIM:620023
HP:0001344	Absent speech	8496	PPFIBP1	OMIM:620024
HP:0001344	Absent speech	9839	ZEB2	OMIM:235730
HP:0001344	Absent speech	9839	ZEB2	ORPHA:261552
HP:0001344	Absent speech	9839	ZEB2	ORPHA:261537
HP:0001344	Absent speech	23126	POGZ	ORPHA:468678
HP:0001344	Absent speech	4784	NFIX	ORPHA:447980
HP:0001344	Absent speech	4983	OPHN1	OMIM:300486
HP:0001344	Absent speech	6531	SLC6A3	ORPHA:238455
HP:0001344	Absent speech	80232	WDR26	ORPHA:513456
HP:0001344	Absent speech	80232	WDR26	OMIM:617616
HP:0001344	Absent speech	89910	UBE3B	OMIM:244450
HP:0001344	Absent speech	51506	UFC1	OMIM:618076
HP:0001344	Absent speech	80055	PGAP1	OMIM:615802
HP:0001344	Absent speech	2911	GRM1	OMIM:614831
HP:0001344	Absent speech	2911	GRM1	ORPHA:324262
HP:0001344	Absent speech	10847	SRCAP	ORPHA:2044
HP:0001344	Absent speech	5689	PSMB1	OMIM:620038
HP:0001344	Absent speech	10978	CLP1	OMIM:615803
HP:0001344	Absent speech	271	AMPD2	OMIM:615809
HP:0001344	Absent speech	25839	COG4	ORPHA:263501
HP:0001344	Absent speech	25839	COG4	OMIM:613489
HP:0001344	Absent speech	56992	KIF15	ORPHA:261323
HP:0001344	Absent speech	4001	LMNB1	OMIM:619179
HP:0001344	Absent speech	64324	NSD1	OMIM:117550
HP:0001344	Absent speech	64207	IRF2BPL	OMIM:618088
HP:0001344	Absent speech	5119	CHMP1A	OMIM:614961
HP:0001344	Absent speech	55157	DARS2	ORPHA:137898
HP:0001344	Absent speech	114034	TOE1	OMIM:614969
HP:0001344	Absent speech	894	CCND2	OMIM:615938
HP:0001344	Absent speech	6597	SMARCA4	OMIM:614609
HP:0001344	Absent speech	6597	SMARCA4	ORPHA:1465
HP:0001344	Absent speech	23116	TOGARAM1	OMIM:619185
HP:0001344	Absent speech	80856	LNPK	OMIM:618090
HP:0001344	Absent speech	79583	TMEM231	OMIM:614970
HP:0001344	Absent speech	10352	WARS2	ORPHA:572798
HP:0001344	Absent speech	10352	WARS2	OMIM:617710
HP:0001344	Absent speech	26005	C2CD3	OMIM:615948
HP:0001344	Absent speech	84947	SERAC1	OMIM:614739
HP:0001344	Absent speech	1798	DPAGT1	ORPHA:86309
HP:0001344	Absent speech	7025	NR2F1	ORPHA:401777
HP:0001344	Absent speech	9255	AIMP1	OMIM:260600
HP:0001344	Absent speech	285175	UNC80	OMIM:616801
HP:0001344	Absent speech	285175	UNC80	ORPHA:371364
HP:0001344	Absent speech	54499	TMCO1	OMIM:213980
HP:0001344	Absent speech	93210	PGAP3	OMIM:615716
HP:0001344	Absent speech	83475	DOHH	OMIM:620066
HP:0001344	Absent speech	6558	SLC12A2	OMIM:619083
HP:0001344	Absent speech	6558	SLC12A2	OMIM:619080
HP:0001344	Absent speech	51611	DPH5	OMIM:620070
HP:0001344	Absent speech	5700	PSMC1	OMIM:620071
HP:0001344	Absent speech	440138	ALG11	OMIM:613661
HP:0001344	Absent speech	9568	GABBR2	OMIM:617903
HP:0001344	Absent speech	9568	GABBR2	OMIM:617904
HP:0001344	Absent speech	64135	IFIH1	OMIM:615846
HP:0001344	Absent speech	10472	ZBTB18	OMIM:612337
HP:0001344	Absent speech	6605	SMARCE1	OMIM:616938
HP:0001344	Absent speech	6605	SMARCE1	ORPHA:1465
HP:0001344	Absent speech	55691	FRMD4A	OMIM:616819
HP:0001344	Absent speech	55691	FRMD4A	ORPHA:466688
HP:0001344	Absent speech	10430	TMEM147	OMIM:620075
HP:0001344	Absent speech	3187	HNRNPH1	OMIM:620083
HP:0001344	Absent speech	158	ADSL	ORPHA:46
HP:0001344	Absent speech	11152	WDR45	OMIM:300894
HP:0001344	Absent speech	7355	SLC35A2	OMIM:300896
HP:0001344	Absent speech	9968	MED12	OMIM:300895
HP:0001344	Absent speech	26047	CNTNAP2	OMIM:610042
HP:0001344	Absent speech	26047	CNTNAP2	ORPHA:163681
HP:0001344	Absent speech	50628	GEMIN4	OMIM:617913
HP:0001344	Absent speech	81887	LAS1L	OMIM:309585
HP:0001344	Absent speech	85440	DOCK7	OMIM:615859
HP:0001344	Absent speech	4208	MEF2C	OMIM:613443
HP:0001344	Absent speech	22907	DHX30	OMIM:617804
HP:0001344	Absent speech	7407	VARS1	OMIM:617802
HP:0001344	Absent speech	9894	TELO2	OMIM:616954
HP:0001344	Absent speech	9894	TELO2	ORPHA:488642
HP:0001344	Absent speech	9230	RAB11B	OMIM:617807
HP:0001344	Absent speech	10075	HUWE1	OMIM:309590
HP:0001344	Absent speech	55906	ZC4H2	OMIM:301041
HP:0001344	Absent speech	8243	SMC1A	OMIM:301044
HP:0001344	Absent speech	8243	SMC1A	ORPHA:220386
HP:0001344	Absent speech	348980	HCN1	OMIM:615871
HP:0001344	Absent speech	23394	ADNP	OMIM:615873
HP:0001344	Absent speech	51807	TUBA8	ORPHA:250972
HP:0001344	Absent speech	6328	SCN3A	OMIM:617938
HP:0001344	Absent speech	22845	DOLK	ORPHA:91131
HP:0001344	Absent speech	79587	CARS2	ORPHA:477774
HP:0001344	Absent speech	84162	BLTP1	OMIM:617822
HP:0001344	Absent speech	2902	GRIN1	OMIM:617820
HP:0001344	Absent speech	2902	GRIN1	OMIM:614254
HP:0001344	Absent speech	7280	TUBB2A	OMIM:615763
HP:0001344	Absent speech	4953	ODC1	ORPHA:544488
HP:0001344	Absent speech	998	CDC42	OMIM:616737
HP:0001344	Absent speech	998	CDC42	ORPHA:487796
HP:0001344	Absent speech	55152	DALRD3	OMIM:618910
HP:0001344	Absent speech	3097	HIVEP2	OMIM:616977
HP:0001344	Absent speech	51010	EXOSC3	OMIM:614678
HP:0001344	Absent speech	6513	SLC2A1	OMIM:608885
HP:0001344	Absent speech	2561	GABRB2	OMIM:617829
HP:0001344	Absent speech	2891	GRIA2	OMIM:618917
HP:0001344	Absent speech	23732	FRRS1L	OMIM:616981
HP:0001344	Absent speech	8831	SYNGAP1	ORPHA:544254
HP:0001344	Absent speech	9512	PMPCB	OMIM:617954
HP:0001344	Absent speech	5530	PPP3CA	OMIM:617711
HP:0001344	Absent speech	7874	USP7	OMIM:616863
HP:0001344	Absent speech	7874	USP7	ORPHA:500055
HP:0001344	Absent speech	6598	SMARCB1	ORPHA:1465
HP:0001344	Absent speech	6659	SOX4	ORPHA:1465
HP:0001344	Absent speech	8289	ARID1A	ORPHA:1465
HP:0001344	Absent speech	5977	DPF2	ORPHA:1465
HP:0001344	Absent speech	6602	SMARCD1	ORPHA:1465
HP:0001344	Absent speech	57492	ARID1B	ORPHA:1465
HP:0001344	Absent speech	196528	ARID2	ORPHA:1465
HP:0001344	Absent speech	6664	SOX11	ORPHA:1465
HP:0001344	Absent speech	4915	NTRK2	OMIM:617830
HP:0001344	Absent speech	27315	PGAP2	OMIM:614207
HP:0001344	Absent speech	259232	NALCN	OMIM:615419
HP:0001344	Absent speech	259232	NALCN	ORPHA:371364
HP:0001344	Absent speech	51185	CRBN	OMIM:607417
HP:0001344	Absent speech	10943	MSL3	OMIM:301032
HP:0001344	Absent speech	84342	COG8	OMIM:611182
HP:0001344	Absent speech	56479	KCNQ5	OMIM:617601
HP:0001344	Absent speech	54664	TMEM106B	OMIM:617964
HP:0001344	Absent speech	128637	TBC1D20	OMIM:615663
HP:0001344	Absent speech	55969	RAB5IF	OMIM:616994
HP:0001344	Absent speech	128989	TANGO2	OMIM:616878
HP:0001344	Absent speech	54551	MAGEL2	OMIM:615547
HP:0001344	Absent speech	51501	HIKESHI	OMIM:616881
HP:0001344	Absent speech	6812	STXBP1	OMIM:612164
HP:0001344	Absent speech	55180	LINS1	OMIM:614340
HP:0001344	Absent speech	22866	CNKSR2	OMIM:301008
HP:0001344	Absent speech	10815	CPLX1	OMIM:617976
HP:0001344	Absent speech	3747	KCNC2	OMIM:619913
HP:0001344	Absent speech	1213	CLTC	OMIM:617854
HP:0001344	Absent speech	25782	RAB3GAP2	OMIM:614225
HP:0001344	Absent speech	1861	TOR1A	OMIM:618947
HP:0001344	Absent speech	22931	RAB18	OMIM:614222
HP:0001344	Absent speech	56270	WDR45B	OMIM:617977
HP:0001344	Absent speech	6182	MRPL12	OMIM:618951
HP:0001344	Absent speech	200894	ARL13B	OMIM:612291
HP:0001344	Absent speech	122553	TRAPPC6B	OMIM:617862
HP:0001344	Absent speech	9918	NCAPD2	OMIM:617983
HP:0001344	Absent speech	7204	TRIO	ORPHA:476126
HP:0001344	Absent speech	57688	ZSWIM6	OMIM:617865
HP:0001344	Absent speech	1806	DPYD	ORPHA:1675
HP:0001344	Absent speech	2893	GRIA4	OMIM:617864
HP:0001344	Absent speech	79867	TCTN2	OMIM:616654
HP:0001344	Absent speech	81562	LMAN2L	OMIM:617863
HP:0001344	Absent speech	2890	GRIA1	OMIM:619927
HP:0001344	Absent speech	2890	GRIA1	OMIM:619931
HP:0001344	Absent speech	54805	CNNM2	OMIM:616418
HP:0001344	Absent speech	55704	CCDC88A	OMIM:617507
HP:0001344	Absent speech	55164	SHQ1	OMIM:619922
HP:0001344	Absent speech	6509	SLC1A4	OMIM:616657
HP:0001344	Absent speech	84628	NTNG2	OMIM:618718
HP:0001344	Absent speech	3756	KCNH1	ORPHA:420561
HP:0001344	Absent speech	51	ACOX1	OMIM:618960
HP:0001344	Absent speech	54802	TRIT1	OMIM:617873
HP:0001344	Absent speech	5879	RAC1	OMIM:617751
HP:0001344	Absent speech	5879	RAC1	ORPHA:500159
HP:0001344	Absent speech	9197	SLC33A1	OMIM:614482
HP:0001344	Absent speech	2806	GOT2	OMIM:618721
HP:0001344	Absent speech	57731	SPTBN4	OMIM:617519
HP:0001344	Absent speech	547	KIF1A	OMIM:614255
HP:0001344	Absent speech	57194	ATP10A	ORPHA:411515
HP:0001344	Absent speech	9990	SLC12A6	OMIM:218000
HP:0006799	Basal ganglia cysts	1376	CPT2	OMIM:608836
HP:0006799	Basal ganglia cysts	85476	GFM1	OMIM:609060
HP:0006799	Basal ganglia cysts	4508	MT-ATP6	ORPHA:225154
HP:0006799	Basal ganglia cysts	23636	NUP62	ORPHA:225154
HP:0006799	Basal ganglia cysts	103	ADAR	ORPHA:225154
HP:0006799	Basal ganglia cysts	9361	LONP1	ORPHA:79243
HP:0006799	Basal ganglia cysts	5160	PDHA1	ORPHA:79243
HP:0006799	Basal ganglia cysts	5160	PDHA1	OMIM:312170
HP:0032653	Elevated lactate:pyruvate ratio	8802	SUCLG1	OMIM:245400
HP:0032653	Elevated lactate:pyruvate ratio	90161	HS6ST2	OMIM:301025
HP:0032653	Elevated lactate:pyruvate ratio	55863	TMEM126B	OMIM:618250
HP:0032653	Elevated lactate:pyruvate ratio	9997	SCO2	OMIM:604377
HP:0032653	Elevated lactate:pyruvate ratio	4716	NDUFB10	OMIM:619003
HP:0032653	Elevated lactate:pyruvate ratio	4704	NDUFA9	OMIM:618247
HP:0032653	Elevated lactate:pyruvate ratio	1537	CYC1	OMIM:615453
HP:0032653	Elevated lactate:pyruvate ratio	790955	UQCC3	OMIM:616111
HP:0032653	Elevated lactate:pyruvate ratio	200205	IBA57	OMIM:615330
HP:0032653	Elevated lactate:pyruvate ratio	11222	MRPL3	OMIM:614582
HP:0032653	Elevated lactate:pyruvate ratio	4705	NDUFA10	OMIM:618243
HP:0032653	Elevated lactate:pyruvate ratio	9692	PRORP	OMIM:619737
HP:0032653	Elevated lactate:pyruvate ratio	54931	TRMT10C	OMIM:616974
HP:0032653	Elevated lactate:pyruvate ratio	4724	NDUFS4	OMIM:252010
HP:0032653	Elevated lactate:pyruvate ratio	23590	PDSS1	OMIM:614651
HP:0032653	Elevated lactate:pyruvate ratio	56997	COQ8A	OMIM:612016
HP:0032653	Elevated lactate:pyruvate ratio	85476	GFM1	OMIM:609060
HP:0032653	Elevated lactate:pyruvate ratio	4191	MDH2	OMIM:617339
HP:0032653	Elevated lactate:pyruvate ratio	10102	TSFM	OMIM:610505
HP:0032653	Elevated lactate:pyruvate ratio	617	BCS1L	OMIM:124000
HP:0032653	Elevated lactate:pyruvate ratio	6389	SDHA	OMIM:252011
HP:0002000	Short columella	55777	MBD5	OMIM:156200
HP:0002000	Short columella	10664	CTCF	ORPHA:363611
HP:0002000	Short columella	4123	MAN2C1	OMIM:619775
HP:0002000	Short columella	259232	NALCN	OMIM:616266
HP:0002000	Short columella	8260	NAA10	OMIM:300855
HP:0002000	Short columella	8260	NAA10	ORPHA:276432
HP:0002000	Short columella	1387	CREBBP	OMIM:180849
HP:0002000	Short columella	1387	CREBBP	OMIM:618332
HP:0002000	Short columella	2033	EP300	OMIM:180849
HP:0002000	Short columella	64327	LMBR1	ORPHA:2378
HP:0002000	Short columella	1788	DNMT3A	OMIM:615879
HP:0002000	Short columella	1788	DNMT3A	ORPHA:404443
HP:0002000	Short columella	79005	SCNM1	OMIM:620107
HP:0002000	Short columella	145173	B3GLCT	ORPHA:709
HP:0002000	Short columella	1063	CENPF	OMIM:243605
HP:0002000	Short columella	415	ARSL	ORPHA:79345
HP:0002000	Short columella	71	ACTG1	ORPHA:2995
HP:0002000	Short columella	60	ACTB	ORPHA:2995
HP:0002000	Short columella	3756	KCNH1	OMIM:611816
HP:0002000	Short columella	6469	SHH	OMIM:142945
HP:0002000	Short columella	257	ALX3	OMIM:136760
HP:0002000	Short columella	284252	KCTD1	OMIM:181270
HP:0002000	Short columella	113189	CHST14	OMIM:601776
HP:0002000	Short columella	2077	ERF	OMIM:617180
HP:0002000	Short columella	80816	ASXL3	OMIM:615485
HP:0002000	Short columella	7403	KDM6A	OMIM:300867
HP:0002000	Short columella	7403	KDM6A	ORPHA:2322
HP:0002000	Short columella	8085	KMT2D	ORPHA:2322
HP:0002000	Short columella	7291	TWIST1	OMIM:617746
HP:0002000	Short columella	55623	THUMPD1	OMIM:619989
HP:0002000	Short columella	4297	KMT2A	OMIM:605130
HP:0000316	Hypertelorism	8216	LZTR1	OMIM:616564
HP:0000316	Hypertelorism	8216	LZTR1	OMIM:605275
HP:0000316	Hypertelorism	8216	LZTR1	ORPHA:648
HP:0000316	Hypertelorism	54101	RIPK4	ORPHA:1401
HP:0000316	Hypertelorism	54101	RIPK4	OMIM:263650
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:149730
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:168624
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:123790
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:794
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:123500
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:87
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93260
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93258
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93259
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:614592
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101400
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101200
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:207
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:313855
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101600
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:1555
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:1540
HP:0000316	Hypertelorism	4897	NRCAM	OMIM:619833
HP:0000316	Hypertelorism	7021	TFAP2B	OMIM:169100
HP:0000316	Hypertelorism	7021	TFAP2B	ORPHA:46627
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:53271
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:794
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:93262
HP:0000316	Hypertelorism	2261	FGFR3	OMIM:602849
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:35099
HP:0000316	Hypertelorism	2261	FGFR3	OMIM:612247
HP:0000316	Hypertelorism	1788	DNMT3A	ORPHA:404443
HP:0000316	Hypertelorism	1788	DNMT3A	OMIM:615879
HP:0000316	Hypertelorism	51	ACOX1	ORPHA:2971
HP:0000316	Hypertelorism	51	ACOX1	OMIM:264470
HP:0000316	Hypertelorism	1836	SLC26A2	ORPHA:56304
HP:0000316	Hypertelorism	1836	SLC26A2	ORPHA:628
HP:0000316	Hypertelorism	4125	MAN2B1	ORPHA:309282
HP:0000316	Hypertelorism	6662	SOX9	ORPHA:140
HP:0000316	Hypertelorism	6662	SOX9	OMIM:114290
HP:0000316	Hypertelorism	9578	CDC42BPB	OMIM:619841
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:380
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:36
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:672
HP:0000316	Hypertelorism	2737	GLI3	OMIM:175700
HP:0000316	Hypertelorism	80816	ASXL3	OMIM:615485
HP:0000316	Hypertelorism	80816	ASXL3	ORPHA:352577
HP:0000316	Hypertelorism	1855	DVL1	OMIM:616331
HP:0000316	Hypertelorism	1855	DVL1	OMIM:180700
HP:0000316	Hypertelorism	1855	DVL1	ORPHA:3107
HP:0000316	Hypertelorism	27245	AHDC1	ORPHA:412069
HP:0000316	Hypertelorism	27245	AHDC1	OMIM:615829
HP:0000316	Hypertelorism	2137	EXTL3	OMIM:617425
HP:0000316	Hypertelorism	5184	PEPD	OMIM:170100
HP:0000316	Hypertelorism	5184	PEPD	ORPHA:742
HP:0000316	Hypertelorism	126792	B3GALT6	ORPHA:2725
HP:0000316	Hypertelorism	55690	PACS1	OMIM:615009
HP:0000316	Hypertelorism	55690	PACS1	ORPHA:329224
HP:0000316	Hypertelorism	2132	EXT2	ORPHA:466926
HP:0000316	Hypertelorism	2132	EXT2	OMIM:616682
HP:0000316	Hypertelorism	84520	GON7	OMIM:619603
HP:0000316	Hypertelorism	57082	KNL1	OMIM:604321
HP:0000316	Hypertelorism	79158	GNPTAB	OMIM:252500
HP:0000316	Hypertelorism	55636	CHD7	ORPHA:138
HP:0000316	Hypertelorism	55636	CHD7	OMIM:214800
HP:0000316	Hypertelorism	55636	CHD7	ORPHA:432
HP:0000316	Hypertelorism	9723	SEMA3E	ORPHA:138
HP:0000316	Hypertelorism	55650	PIGV	OMIM:239300
HP:0000316	Hypertelorism	55650	PIGV	ORPHA:247262
HP:0000316	Hypertelorism	79868	ALG13	ORPHA:324422
HP:0000316	Hypertelorism	79868	ALG13	OMIM:300884
HP:0000316	Hypertelorism	113189	CHST14	ORPHA:2953
HP:0000316	Hypertelorism	113189	CHST14	OMIM:601776
HP:0000316	Hypertelorism	29940	DSE	ORPHA:2953
HP:0000316	Hypertelorism	29940	DSE	OMIM:615539
HP:0000316	Hypertelorism	10606	PAICS	OMIM:619859
HP:0000316	Hypertelorism	64359	NXN	OMIM:618529
HP:0000316	Hypertelorism	64359	NXN	ORPHA:1507
HP:0000316	Hypertelorism	9968	MED12	ORPHA:93932
HP:0000316	Hypertelorism	9968	MED12	OMIM:305450
HP:0000316	Hypertelorism	9968	MED12	OMIM:300895
HP:0000316	Hypertelorism	81857	MED25	ORPHA:464738
HP:0000316	Hypertelorism	81857	MED25	OMIM:616449
HP:0000316	Hypertelorism	158326	FREM1	ORPHA:2717
HP:0000316	Hypertelorism	158326	FREM1	OMIM:248450
HP:0000316	Hypertelorism	158326	FREM1	OMIM:614485
HP:0000316	Hypertelorism	2697	GJA1	ORPHA:2710
HP:0000316	Hypertelorism	2697	GJA1	OMIM:218400
HP:0000316	Hypertelorism	2697	GJA1	ORPHA:1522
HP:0000316	Hypertelorism	9401	RECQL4	OMIM:218600
HP:0000316	Hypertelorism	9401	RECQL4	OMIM:268400
HP:0000316	Hypertelorism	9401	RECQL4	ORPHA:1225
HP:0000316	Hypertelorism	171023	ASXL1	ORPHA:97297
HP:0000316	Hypertelorism	171023	ASXL1	OMIM:605039
HP:0000316	Hypertelorism	10484	SEC23A	OMIM:607812
HP:0000316	Hypertelorism	10484	SEC23A	ORPHA:50814
HP:0000316	Hypertelorism	23347	SMCHD1	OMIM:603457
HP:0000316	Hypertelorism	1500	CTNND1	OMIM:617681
HP:0000316	Hypertelorism	1500	CTNND1	ORPHA:1997
HP:0000316	Hypertelorism	4330	MN1	OMIM:618774
HP:0000316	Hypertelorism	5528	PPP2R5D	OMIM:616355
HP:0000316	Hypertelorism	23327	NEDD4L	OMIM:617201
HP:0000316	Hypertelorism	8036	SHOC2	ORPHA:2701
HP:0000316	Hypertelorism	8036	SHOC2	OMIM:607721
HP:0000316	Hypertelorism	5500	PPP1CB	ORPHA:2701
HP:0000316	Hypertelorism	5500	PPP1CB	OMIM:617506
HP:0000316	Hypertelorism	6602	SMARCD1	OMIM:618779
HP:0000316	Hypertelorism	10716	TBR1	ORPHA:1617
HP:0000316	Hypertelorism	26040	SETBP1	OMIM:269150
HP:0000316	Hypertelorism	26040	SETBP1	ORPHA:798
HP:0000316	Hypertelorism	26040	SETBP1	OMIM:616078
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:90650
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:90652
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:1826
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:555877
HP:0000316	Hypertelorism	2316	FLNA	OMIM:309350
HP:0000316	Hypertelorism	2316	FLNA	OMIM:305620
HP:0000316	Hypertelorism	2316	FLNA	OMIM:304120
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:88630
HP:0000316	Hypertelorism	2316	FLNA	OMIM:314400
HP:0000316	Hypertelorism	2316	FLNA	OMIM:300244
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:2484
HP:0000316	Hypertelorism	2316	FLNA	OMIM:311300
HP:0000316	Hypertelorism	2316	FLNA	OMIM:300048
HP:0000316	Hypertelorism	11285	B4GALT7	OMIM:130070
HP:0000316	Hypertelorism	5518	PPP2R1A	OMIM:616362
HP:0000316	Hypertelorism	5518	PPP2R1A	ORPHA:457284
HP:0000316	Hypertelorism	1186	CLCN7	OMIM:618541
HP:0000316	Hypertelorism	55768	NGLY1	OMIM:615273
HP:0000316	Hypertelorism	23512	SUZ12	OMIM:618786
HP:0000316	Hypertelorism	23512	SUZ12	ORPHA:3447
HP:0000316	Hypertelorism	3590	IL11RA	OMIM:614188
HP:0000316	Hypertelorism	23126	POGZ	OMIM:616364
HP:0000316	Hypertelorism	23126	POGZ	ORPHA:468678
HP:0000316	Hypertelorism	57680	CHD8	OMIM:615032
HP:0000316	Hypertelorism	2200	FBN1	OMIM:614185
HP:0000316	Hypertelorism	2200	FBN1	ORPHA:2462
HP:0000316	Hypertelorism	2200	FBN1	ORPHA:91387
HP:0000316	Hypertelorism	8558	CDK10	OMIM:617694
HP:0000316	Hypertelorism	27125	AFF4	OMIM:616368
HP:0000316	Hypertelorism	116115	ZNF526	OMIM:619877
HP:0000316	Hypertelorism	79770	TXNDC15	OMIM:619879
HP:0000316	Hypertelorism	79770	TXNDC15	ORPHA:564
HP:0000316	Hypertelorism	5979	RET	ORPHA:1848
HP:0000316	Hypertelorism	8516	ITGA8	ORPHA:1848
HP:0000316	Hypertelorism	8516	ITGA8	OMIM:191830
HP:0000316	Hypertelorism	26281	FGF20	ORPHA:1848
HP:0000316	Hypertelorism	2674	GFRA1	ORPHA:1848
HP:0000316	Hypertelorism	7484	WNT9B	ORPHA:1848
HP:0000316	Hypertelorism	80000	GREB1L	ORPHA:1848
HP:0000316	Hypertelorism	5727	PTCH1	OMIM:610828
HP:0000316	Hypertelorism	5727	PTCH1	ORPHA:377
HP:0000316	Hypertelorism	5727	PTCH1	OMIM:109400
HP:0000316	Hypertelorism	79718	TBL1XR1	OMIM:602342
HP:0000316	Hypertelorism	79718	TBL1XR1	ORPHA:487825
HP:0000316	Hypertelorism	54828	BCAS3	OMIM:619641
HP:0000316	Hypertelorism	30813	VSX1	OMIM:614195
HP:0000316	Hypertelorism	83479	DDX59	ORPHA:2919
HP:0000316	Hypertelorism	83479	DDX59	OMIM:174300
HP:0000316	Hypertelorism	9772	TMEM94	OMIM:618316
HP:0000316	Hypertelorism	79633	FAT4	ORPHA:314679
HP:0000316	Hypertelorism	79633	FAT4	ORPHA:2136
HP:0000316	Hypertelorism	79633	FAT4	OMIM:616006
HP:0000316	Hypertelorism	79633	FAT4	OMIM:615546
HP:0000316	Hypertelorism	8642	DCHS1	ORPHA:314679
HP:0000316	Hypertelorism	8642	DCHS1	OMIM:601390
HP:0000316	Hypertelorism	79728	PALB2	OMIM:610832
HP:0000316	Hypertelorism	79728	PALB2	ORPHA:84
HP:0000316	Hypertelorism	57688	ZSWIM6	OMIM:603671
HP:0000316	Hypertelorism	57688	ZSWIM6	ORPHA:1827
HP:0000316	Hypertelorism	3930	LBR	OMIM:215140
HP:0000316	Hypertelorism	3930	LBR	OMIM:169400
HP:0000316	Hypertelorism	8643	PTCH2	ORPHA:377
HP:0000316	Hypertelorism	51684	SUFU	ORPHA:377
HP:0000316	Hypertelorism	51684	SUFU	OMIM:617757
HP:0000316	Hypertelorism	2239	GPC4	ORPHA:373
HP:0000316	Hypertelorism	2239	GPC4	OMIM:301026
HP:0000316	Hypertelorism	2239	GPC4	OMIM:312870
HP:0000316	Hypertelorism	2239	GPC4	ORPHA:2662
HP:0000316	Hypertelorism	2719	GPC3	ORPHA:373
HP:0000316	Hypertelorism	2719	GPC3	OMIM:312870
HP:0000316	Hypertelorism	23483	TGDS	OMIM:616145
HP:0000316	Hypertelorism	23483	TGDS	ORPHA:1388
HP:0000316	Hypertelorism	84168	ANTXR1	OMIM:230740
HP:0000316	Hypertelorism	84168	ANTXR1	ORPHA:2067
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:166250
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:93258
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:2117
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:615465
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:432
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:101600
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:2645
HP:0000316	Hypertelorism	64919	BCL11B	OMIM:617237
HP:0000316	Hypertelorism	64919	BCL11B	OMIM:618092
HP:0000316	Hypertelorism	2720	GLB1	OMIM:230500
HP:0000316	Hypertelorism	23499	MACF1	OMIM:618325
HP:0000316	Hypertelorism	6885	MAP3K7	ORPHA:1826
HP:0000316	Hypertelorism	6885	MAP3K7	OMIM:157800
HP:0000316	Hypertelorism	6885	MAP3K7	OMIM:617137
HP:0000316	Hypertelorism	51322	WAC	ORPHA:466950
HP:0000316	Hypertelorism	51322	WAC	OMIM:616708
HP:0000316	Hypertelorism	3339	HSPG2	OMIM:255800
HP:0000316	Hypertelorism	3339	HSPG2	ORPHA:800
HP:0000316	Hypertelorism	6135	RPL11	ORPHA:124
HP:0000316	Hypertelorism	6138	RPL15	ORPHA:124
HP:0000316	Hypertelorism	6229	RPS24	ORPHA:124
HP:0000316	Hypertelorism	6125	RPL5	ORPHA:124
HP:0000316	Hypertelorism	6125	RPL5	OMIM:612561
HP:0000316	Hypertelorism	6204	RPS10	ORPHA:124
HP:0000316	Hypertelorism	6224	RPS20	ORPHA:124
HP:0000316	Hypertelorism	6165	RPL35A	ORPHA:124
HP:0000316	Hypertelorism	6165	RPL35A	OMIM:612528
HP:0000316	Hypertelorism	2623	GATA1	ORPHA:124
HP:0000316	Hypertelorism	6223	RPS19	ORPHA:124
HP:0000316	Hypertelorism	6223	RPS19	OMIM:105650
HP:0000316	Hypertelorism	6232	RPS27	ORPHA:124
HP:0000316	Hypertelorism	6231	RPS26	ORPHA:124
HP:0000316	Hypertelorism	11224	RPL35	ORPHA:124
HP:0000316	Hypertelorism	6160	RPL31	ORPHA:124
HP:0000316	Hypertelorism	6218	RPS17	ORPHA:124
HP:0000316	Hypertelorism	6201	RPS7	ORPHA:124
HP:0000316	Hypertelorism	6201	RPS7	OMIM:612563
HP:0000316	Hypertelorism	6155	RPL27	ORPHA:124
HP:0000316	Hypertelorism	6154	RPL26	ORPHA:124
HP:0000316	Hypertelorism	6210	RPS15A	ORPHA:124
HP:0000316	Hypertelorism	90121	TSR2	ORPHA:124
HP:0000316	Hypertelorism	6141	RPL18	ORPHA:124
HP:0000316	Hypertelorism	6235	RPS29	ORPHA:124
HP:0000316	Hypertelorism	6234	RPS28	ORPHA:124
HP:0000316	Hypertelorism	51816	ADA2	ORPHA:124
HP:0000316	Hypertelorism	257	ALX3	ORPHA:391474
HP:0000316	Hypertelorism	257	ALX3	OMIM:136760
HP:0000316	Hypertelorism	25970	SH2B1	ORPHA:261197
HP:0000316	Hypertelorism	56160	NSMCE3	OMIM:617241
HP:0000316	Hypertelorism	9742	IFT140	OMIM:266920
HP:0000316	Hypertelorism	5881	RAC3	OMIM:618577
HP:0000316	Hypertelorism	60529	ALX4	ORPHA:228390
HP:0000316	Hypertelorism	60529	ALX4	OMIM:609597
HP:0000316	Hypertelorism	60529	ALX4	OMIM:613451
HP:0000316	Hypertelorism	26173	INTS1	OMIM:618571
HP:0000316	Hypertelorism	55656	INTS8	OMIM:618572
HP:0000316	Hypertelorism	84188	FAR1	OMIM:616154
HP:0000316	Hypertelorism	84188	FAR1	ORPHA:438178
HP:0000316	Hypertelorism	7046	TGFBR1	OMIM:609192
HP:0000316	Hypertelorism	7046	TGFBR1	ORPHA:60030
HP:0000316	Hypertelorism	7046	TGFBR1	ORPHA:91387
HP:0000316	Hypertelorism	7291	TWIST1	ORPHA:794
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:180750
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:101400
HP:0000316	Hypertelorism	7291	TWIST1	ORPHA:35099
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:617746
HP:0000316	Hypertelorism	4088	SMAD3	ORPHA:284984
HP:0000316	Hypertelorism	4088	SMAD3	OMIM:613795
HP:0000316	Hypertelorism	4088	SMAD3	ORPHA:91387
HP:0000316	Hypertelorism	4921	DDR2	OMIM:271665
HP:0000316	Hypertelorism	9488	PIGB	OMIM:618580
HP:0000316	Hypertelorism	57459	GATAD2B	OMIM:615074
HP:0000316	Hypertelorism	57459	GATAD2B	ORPHA:363686
HP:0000316	Hypertelorism	8925	HERC1	OMIM:617011
HP:0000316	Hypertelorism	8925	HERC1	ORPHA:457359
HP:0000316	Hypertelorism	56896	DPYSL5	OMIM:619435
HP:0000316	Hypertelorism	8473	OGT	OMIM:300997
HP:0000316	Hypertelorism	8573	CASK	OMIM:300749
HP:0000316	Hypertelorism	8573	CASK	ORPHA:163937
HP:0000316	Hypertelorism	8573	CASK	OMIM:300422
HP:0000316	Hypertelorism	6418	SET	OMIM:618106
HP:0000316	Hypertelorism	51259	TMEM216	OMIM:608091
HP:0000316	Hypertelorism	51259	TMEM216	ORPHA:564
HP:0000316	Hypertelorism	51259	TMEM216	ORPHA:2754
HP:0000316	Hypertelorism	79813	EHMT1	ORPHA:96147
HP:0000316	Hypertelorism	79813	EHMT1	OMIM:610253
HP:0000316	Hypertelorism	4703	NEB	OMIM:256030
HP:0000316	Hypertelorism	4703	NEB	ORPHA:171433
HP:0000316	Hypertelorism	4703	NEB	ORPHA:171439
HP:0000316	Hypertelorism	5308	PITX2	ORPHA:782
HP:0000316	Hypertelorism	2296	FOXC1	ORPHA:782
HP:0000316	Hypertelorism	2296	FOXC1	OMIM:602482
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:36
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:166024
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:2754
HP:0000316	Hypertelorism	374654	KIF7	OMIM:200990
HP:0000316	Hypertelorism	374654	KIF7	OMIM:607131
HP:0000316	Hypertelorism	7372	UMPS	ORPHA:30
HP:0000316	Hypertelorism	5515	PPP2CA	OMIM:618354
HP:0000316	Hypertelorism	23114	NFASC	OMIM:618356
HP:0000316	Hypertelorism	5649	RELN	ORPHA:89844
HP:0000316	Hypertelorism	10300	KATNB1	ORPHA:89844
HP:0000316	Hypertelorism	54820	NDE1	ORPHA:89844
HP:0000316	Hypertelorism	56975	FAM20C	OMIM:259775
HP:0000316	Hypertelorism	5934	RBL2	OMIM:619690
HP:0000316	Hypertelorism	55777	MBD5	OMIM:156200
HP:0000316	Hypertelorism	3039	HBA1	ORPHA:98791
HP:0000316	Hypertelorism	3040	HBA2	ORPHA:98791
HP:0000316	Hypertelorism	51132	RLIM	OMIM:300978
HP:0000316	Hypertelorism	51434	ANAPC7	OMIM:619699
HP:0000316	Hypertelorism	7468	NSD2	OMIM:619695
HP:0000316	Hypertelorism	7468	NSD2	OMIM:194190
HP:0000316	Hypertelorism	7468	NSD2	ORPHA:280
HP:0000316	Hypertelorism	551	AVP	OMIM:125700
HP:0000316	Hypertelorism	201163	FLCN	OMIM:610883
HP:0000316	Hypertelorism	1312	COMT	ORPHA:567
HP:0000316	Hypertelorism	221037	JMJD1C	ORPHA:567
HP:0000316	Hypertelorism	2812	GP1BB	ORPHA:567
HP:0000316	Hypertelorism	6239	RREB1	ORPHA:567
HP:0000316	Hypertelorism	6899	TBX1	ORPHA:567
HP:0000316	Hypertelorism	6899	TBX1	OMIM:217095
HP:0000316	Hypertelorism	6899	TBX1	ORPHA:1727
HP:0000316	Hypertelorism	6899	TBX1	OMIM:188400
HP:0000316	Hypertelorism	7290	HIRA	ORPHA:567
HP:0000316	Hypertelorism	9632	SEC24C	ORPHA:567
HP:0000316	Hypertelorism	7353	UFD1	ORPHA:567
HP:0000316	Hypertelorism	421	ARVCF	ORPHA:567
HP:0000316	Hypertelorism	1009	CDH11	OMIM:211380
HP:0000316	Hypertelorism	1009	CDH11	ORPHA:1299
HP:0000316	Hypertelorism	1009	CDH11	OMIM:619736
HP:0000316	Hypertelorism	84314	TMEM107	ORPHA:564
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:564
HP:0000316	Hypertelorism	26123	TCTN3	OMIM:258860
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:2753
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:2754
HP:0000316	Hypertelorism	79867	TCTN2	ORPHA:564
HP:0000316	Hypertelorism	80776	B9D2	ORPHA:564
HP:0000316	Hypertelorism	79600	TCTN1	ORPHA:564
HP:0000316	Hypertelorism	57096	RPGRIP1	ORPHA:564
HP:0000316	Hypertelorism	79848	CSPP1	ORPHA:564
HP:0000316	Hypertelorism	79848	CSPP1	OMIM:615636
HP:0000316	Hypertelorism	79848	CSPP1	ORPHA:397715
HP:0000316	Hypertelorism	80184	CEP290	ORPHA:564
HP:0000316	Hypertelorism	57545	CC2D2A	ORPHA:564
HP:0000316	Hypertelorism	79583	TMEM231	ORPHA:564
HP:0000316	Hypertelorism	79583	TMEM231	ORPHA:2752
HP:0000316	Hypertelorism	91147	TMEM67	ORPHA:564
HP:0000316	Hypertelorism	91147	TMEM67	OMIM:216360
HP:0000316	Hypertelorism	27077	B9D1	ORPHA:564
HP:0000316	Hypertelorism	23322	RPGRIP1L	ORPHA:564
HP:0000316	Hypertelorism	54903	MKS1	ORPHA:564
HP:0000316	Hypertelorism	54903	MKS1	OMIM:617121
HP:0000316	Hypertelorism	54903	MKS1	OMIM:249000
HP:0000316	Hypertelorism	65062	TMEM237	ORPHA:564
HP:0000316	Hypertelorism	65062	TMEM237	OMIM:614424
HP:0000316	Hypertelorism	6045	RNF2	OMIM:619460
HP:0000316	Hypertelorism	23111	SPART	ORPHA:101000
HP:0000316	Hypertelorism	23111	SPART	OMIM:275900
HP:0000316	Hypertelorism	4784	NFIX	ORPHA:561
HP:0000316	Hypertelorism	1301	COL11A1	ORPHA:560
HP:0000316	Hypertelorism	1301	COL11A1	OMIM:154780
HP:0000316	Hypertelorism	1301	COL11A1	ORPHA:2021
HP:0000316	Hypertelorism	633	BGN	OMIM:300989
HP:0000316	Hypertelorism	63931	MRPS14	OMIM:618378
HP:0000316	Hypertelorism	3188	HNRNPH2	OMIM:300986
HP:0000316	Hypertelorism	4763	NF1	ORPHA:97685
HP:0000316	Hypertelorism	4763	NF1	ORPHA:363700
HP:0000316	Hypertelorism	4763	NF1	OMIM:193520
HP:0000316	Hypertelorism	4763	NF1	OMIM:601321
HP:0000316	Hypertelorism	4763	NF1	ORPHA:638
HP:0000316	Hypertelorism	4763	NF1	OMIM:162200
HP:0000316	Hypertelorism	4927	NUP88	ORPHA:994
HP:0000316	Hypertelorism	7846	TUBA1A	ORPHA:994
HP:0000316	Hypertelorism	4654	MYOD1	ORPHA:994
HP:0000316	Hypertelorism	4593	MUSK	ORPHA:994
HP:0000316	Hypertelorism	4593	MUSK	OMIM:208150
HP:0000316	Hypertelorism	5913	RAPSN	ORPHA:994
HP:0000316	Hypertelorism	5913	RAPSN	OMIM:618388
HP:0000316	Hypertelorism	6572	SLC18A3	ORPHA:994
HP:0000316	Hypertelorism	285489	DOK7	ORPHA:994
HP:0000316	Hypertelorism	29957	SLC25A24	ORPHA:2095
HP:0000316	Hypertelorism	29957	SLC25A24	OMIM:612289
HP:0000316	Hypertelorism	8812	CCNK	OMIM:618147
HP:0000316	Hypertelorism	65250	CPLANE1	OMIM:277170
HP:0000316	Hypertelorism	65250	CPLANE1	ORPHA:2754
HP:0000316	Hypertelorism	134218	DNAJC21	OMIM:617052
HP:0000316	Hypertelorism	10526	IPO8	OMIM:619472
HP:0000316	Hypertelorism	10526	IPO8	ORPHA:60030
HP:0000316	Hypertelorism	348180	CTU2	OMIM:618142
HP:0000316	Hypertelorism	6711	SPTBN1	OMIM:619475
HP:0000316	Hypertelorism	3643	INSR	ORPHA:508
HP:0000316	Hypertelorism	5781	PTPN11	ORPHA:500
HP:0000316	Hypertelorism	5781	PTPN11	ORPHA:648
HP:0000316	Hypertelorism	5781	PTPN11	OMIM:151100
HP:0000316	Hypertelorism	5781	PTPN11	OMIM:163950
HP:0000316	Hypertelorism	673	BRAF	ORPHA:500
HP:0000316	Hypertelorism	673	BRAF	OMIM:613707
HP:0000316	Hypertelorism	673	BRAF	OMIM:613706
HP:0000316	Hypertelorism	673	BRAF	OMIM:115150
HP:0000316	Hypertelorism	673	BRAF	ORPHA:1340
HP:0000316	Hypertelorism	673	BRAF	OMIM:163950
HP:0000316	Hypertelorism	5894	RAF1	ORPHA:500
HP:0000316	Hypertelorism	5894	RAF1	ORPHA:648
HP:0000316	Hypertelorism	5894	RAF1	OMIM:611554
HP:0000316	Hypertelorism	5894	RAF1	OMIM:611553
HP:0000316	Hypertelorism	2317	FLNB	ORPHA:503
HP:0000316	Hypertelorism	2317	FLNB	OMIM:272460
HP:0000316	Hypertelorism	2317	FLNB	ORPHA:1190
HP:0000316	Hypertelorism	2317	FLNB	OMIM:108720
HP:0000316	Hypertelorism	2317	FLNB	OMIM:150250
HP:0000316	Hypertelorism	5728	PTEN	ORPHA:744
HP:0000316	Hypertelorism	5728	PTEN	ORPHA:79076
HP:0000316	Hypertelorism	207	AKT1	ORPHA:744
HP:0000316	Hypertelorism	11198	SUPT16H	OMIM:619480
HP:0000316	Hypertelorism	1457	CSNK2A1	OMIM:617062
HP:0000316	Hypertelorism	7204	TRIO	OMIM:617061
HP:0000316	Hypertelorism	7204	TRIO	OMIM:618825
HP:0000316	Hypertelorism	5290	PIK3CA	OMIM:602501
HP:0000316	Hypertelorism	3636	INPPL1	OMIM:258480
HP:0000316	Hypertelorism	203068	TUBB	OMIM:156610
HP:0000316	Hypertelorism	6872	TAF1	OMIM:300966
HP:0000316	Hypertelorism	374879	ZNF699	OMIM:619488
HP:0000316	Hypertelorism	28952	CCDC22	OMIM:300963
HP:0000316	Hypertelorism	28952	CCDC22	ORPHA:7
HP:0000316	Hypertelorism	9508	ADAMTS3	OMIM:618154
HP:0000316	Hypertelorism	9508	ADAMTS3	ORPHA:2136
HP:0000316	Hypertelorism	1654	DDX3X	OMIM:300958
HP:0000316	Hypertelorism	2799	GNS	OMIM:252940
HP:0000316	Hypertelorism	50964	SOST	OMIM:122860
HP:0000316	Hypertelorism	50964	SOST	OMIM:269500
HP:0000316	Hypertelorism	23387	SIK3	OMIM:618162
HP:0000316	Hypertelorism	80267	EDEM3	OMIM:619493
HP:0000316	Hypertelorism	5295	PIK3R1	ORPHA:3163
HP:0000316	Hypertelorism	5295	PIK3R1	ORPHA:33110
HP:0000316	Hypertelorism	5745	PTH1R	OMIM:156400
HP:0000316	Hypertelorism	5745	PTH1R	OMIM:600002
HP:0000316	Hypertelorism	89970	RSPRY1	ORPHA:457395
HP:0000316	Hypertelorism	89970	RSPRY1	OMIM:616723
HP:0000316	Hypertelorism	51594	NBAS	OMIM:614800
HP:0000316	Hypertelorism	10020	GNE	ORPHA:3166
HP:0000316	Hypertelorism	10020	GNE	OMIM:269921
HP:0000316	Hypertelorism	84081	NSRP1	OMIM:620001
HP:0000316	Hypertelorism	55901	THSD1	OMIM:620244
HP:0000316	Hypertelorism	7474	WNT5A	OMIM:180700
HP:0000316	Hypertelorism	7474	WNT5A	ORPHA:3107
HP:0000316	Hypertelorism	9897	WASHC5	ORPHA:7
HP:0000316	Hypertelorism	9897	WASHC5	OMIM:220210
HP:0000316	Hypertelorism	84842	HPDL	OMIM:619026
HP:0000316	Hypertelorism	5077	PAX3	OMIM:122880
HP:0000316	Hypertelorism	5077	PAX3	ORPHA:1529
HP:0000316	Hypertelorism	5077	PAX3	OMIM:193500
HP:0000316	Hypertelorism	51002	TPRKB	ORPHA:2065
HP:0000316	Hypertelorism	51002	TPRKB	OMIM:617731
HP:0000316	Hypertelorism	84942	WDR73	ORPHA:2065
HP:0000316	Hypertelorism	84942	WDR73	OMIM:251300
HP:0000316	Hypertelorism	55644	OSGEP	ORPHA:2065
HP:0000316	Hypertelorism	55644	OSGEP	OMIM:617729
HP:0000316	Hypertelorism	57122	NUP107	ORPHA:2065
HP:0000316	Hypertelorism	10785	WDR4	ORPHA:2065
HP:0000316	Hypertelorism	55746	NUP133	ORPHA:2065
HP:0000316	Hypertelorism	112858	TP53RK	ORPHA:2065
HP:0000316	Hypertelorism	112858	TP53RK	OMIM:617730
HP:0000316	Hypertelorism	8270	LAGE3	ORPHA:2065
HP:0000316	Hypertelorism	7042	TGFB2	OMIM:614816
HP:0000316	Hypertelorism	7042	TGFB2	ORPHA:91387
HP:0000316	Hypertelorism	25886	POC1A	OMIM:614813
HP:0000316	Hypertelorism	168667	BMPER	OMIM:608022
HP:0000316	Hypertelorism	10682	EBP	ORPHA:401973
HP:0000316	Hypertelorism	10682	EBP	ORPHA:35173
HP:0000316	Hypertelorism	2294	FOXF1	OMIM:265380
HP:0000316	Hypertelorism	324	APC	ORPHA:261584
HP:0000316	Hypertelorism	324	APC	ORPHA:3258
HP:0000316	Hypertelorism	894	CCND2	ORPHA:83473
HP:0000316	Hypertelorism	5296	PIK3R2	ORPHA:83473
HP:0000316	Hypertelorism	10000	AKT3	ORPHA:83473
HP:0000316	Hypertelorism	5393	EXOSC9	OMIM:618065
HP:0000316	Hypertelorism	23241	PACS2	OMIM:618067
HP:0000316	Hypertelorism	161742	SPRED1	OMIM:611431
HP:0000316	Hypertelorism	5885	RAD21	OMIM:614701
HP:0000316	Hypertelorism	57539	WDR35	OMIM:613610
HP:0000316	Hypertelorism	9839	ZEB2	OMIM:235730
HP:0000316	Hypertelorism	9839	ZEB2	ORPHA:261552
HP:0000316	Hypertelorism	9839	ZEB2	ORPHA:261537
HP:0000316	Hypertelorism	80144	FRAS1	OMIM:219000
HP:0000316	Hypertelorism	80144	FRAS1	ORPHA:2052
HP:0000316	Hypertelorism	89910	UBE3B	OMIM:244450
HP:0000316	Hypertelorism	51506	UFC1	OMIM:618076
HP:0000316	Hypertelorism	2314	FLII	ORPHA:819
HP:0000316	Hypertelorism	23096	IQSEC2	ORPHA:819
HP:0000316	Hypertelorism	10743	RAI1	ORPHA:819
HP:0000316	Hypertelorism	10743	RAI1	ORPHA:1713
HP:0000316	Hypertelorism	10522	DEAF1	ORPHA:819
HP:0000316	Hypertelorism	1717	DHCR7	ORPHA:818
HP:0000316	Hypertelorism	1717	DHCR7	OMIM:270400
HP:0000316	Hypertelorism	29072	SETD2	OMIM:620157
HP:0000316	Hypertelorism	29072	SETD2	OMIM:620155
HP:0000316	Hypertelorism	55780	ERMARD	ORPHA:75857
HP:0000316	Hypertelorism	9382	COG1	OMIM:611209
HP:0000316	Hypertelorism	9382	COG1	ORPHA:263508
HP:0000316	Hypertelorism	4038	LRP4	ORPHA:3258
HP:0000316	Hypertelorism	4038	LRP4	OMIM:614305
HP:0000316	Hypertelorism	4038	LRP4	OMIM:212780
HP:0000316	Hypertelorism	6197	RPS6KA3	OMIM:303600
HP:0000316	Hypertelorism	6197	RPS6KA3	ORPHA:192
HP:0000316	Hypertelorism	6197	RPS6KA3	ORPHA:276630
HP:0000316	Hypertelorism	1185	CLCN6	OMIM:619173
HP:0000316	Hypertelorism	56992	KIF15	ORPHA:261323
HP:0000316	Hypertelorism	84992	PIGY	ORPHA:247262
HP:0000316	Hypertelorism	84720	PIGO	ORPHA:247262
HP:0000316	Hypertelorism	84720	PIGO	OMIM:614749
HP:0000316	Hypertelorism	93210	PGAP3	ORPHA:247262
HP:0000316	Hypertelorism	93210	PGAP3	OMIM:615716
HP:0000316	Hypertelorism	284098	PIGW	ORPHA:247262
HP:0000316	Hypertelorism	27315	PGAP2	ORPHA:247262
HP:0000316	Hypertelorism	27315	PGAP2	OMIM:614207
HP:0000316	Hypertelorism	9487	PIGL	ORPHA:247262
HP:0000316	Hypertelorism	9487	PIGL	ORPHA:3474
HP:0000316	Hypertelorism	9487	PIGL	OMIM:280000
HP:0000316	Hypertelorism	4001	LMNB1	OMIM:619179
HP:0000316	Hypertelorism	64324	NSD1	OMIM:117550
HP:0000316	Hypertelorism	64324	NSD1	ORPHA:3447
HP:0000316	Hypertelorism	8913	CACNA1G	OMIM:618087
HP:0000316	Hypertelorism	80204	FBXO11	OMIM:618089
HP:0000316	Hypertelorism	1272	CNTN1	OMIM:612540
HP:0000316	Hypertelorism	1801	DPH1	OMIM:616901
HP:0000316	Hypertelorism	1801	DPH1	ORPHA:459061
HP:0000316	Hypertelorism	672	BRCA1	ORPHA:84
HP:0000316	Hypertelorism	672	BRCA1	OMIM:617883
HP:0000316	Hypertelorism	10459	MAD2L2	ORPHA:84
HP:0000316	Hypertelorism	7516	XRCC2	ORPHA:84
HP:0000316	Hypertelorism	29089	UBE2T	ORPHA:84
HP:0000316	Hypertelorism	675	BRCA2	ORPHA:84
HP:0000316	Hypertelorism	55120	FANCL	ORPHA:84
HP:0000316	Hypertelorism	55120	FANCL	OMIM:614083
HP:0000316	Hypertelorism	2177	FANCD2	ORPHA:84
HP:0000316	Hypertelorism	2177	FANCD2	OMIM:227646
HP:0000316	Hypertelorism	2175	FANCA	ORPHA:84
HP:0000316	Hypertelorism	2187	FANCB	ORPHA:84
HP:0000316	Hypertelorism	2176	FANCC	ORPHA:84
HP:0000316	Hypertelorism	2178	FANCE	ORPHA:84
HP:0000316	Hypertelorism	2188	FANCF	ORPHA:84
HP:0000316	Hypertelorism	2189	FANCG	ORPHA:84
HP:0000316	Hypertelorism	5888	RAD51	ORPHA:84
HP:0000316	Hypertelorism	5889	RAD51C	ORPHA:84
HP:0000316	Hypertelorism	55159	RFWD3	ORPHA:84
HP:0000316	Hypertelorism	83990	BRIP1	ORPHA:84
HP:0000316	Hypertelorism	57697	FANCM	ORPHA:84
HP:0000316	Hypertelorism	84464	SLX4	ORPHA:84
HP:0000316	Hypertelorism	2072	ERCC4	ORPHA:84
HP:0000316	Hypertelorism	55215	FANCI	ORPHA:84
HP:0000316	Hypertelorism	546	ATRX	ORPHA:847
HP:0000316	Hypertelorism	546	ATRX	OMIM:309580
HP:0000316	Hypertelorism	546	ATRX	OMIM:301040
HP:0000316	Hypertelorism	51057	WDPCP	OMIM:217085
HP:0000316	Hypertelorism	23116	TOGARAM1	OMIM:619185
HP:0000316	Hypertelorism	57531	HACE1	ORPHA:464282
HP:0000316	Hypertelorism	9896	FIG4	ORPHA:3472
HP:0000316	Hypertelorism	9896	FIG4	OMIM:216340
HP:0000316	Hypertelorism	55697	VAC14	ORPHA:3472
HP:0000316	Hypertelorism	6999	TDO2	OMIM:600627
HP:0000316	Hypertelorism	23036	ZNF292	OMIM:619188
HP:0000316	Hypertelorism	55148	UBR7	OMIM:619189
HP:0000316	Hypertelorism	23545	ATP6V0A2	OMIM:278250
HP:0000316	Hypertelorism	23545	ATP6V0A2	ORPHA:2834
HP:0000316	Hypertelorism	23545	ATP6V0A2	ORPHA:357074
HP:0000316	Hypertelorism	1954	MEGF8	OMIM:614976
HP:0000316	Hypertelorism	3070	HELLS	OMIM:616911
HP:0000316	Hypertelorism	3070	HELLS	ORPHA:2268
HP:0000316	Hypertelorism	4036	LRP2	ORPHA:2143
HP:0000316	Hypertelorism	4036	LRP2	OMIM:222448
HP:0000316	Hypertelorism	83879	CDCA7	OMIM:616910
HP:0000316	Hypertelorism	83879	CDCA7	ORPHA:2268
HP:0000316	Hypertelorism	25942	SIN3A	OMIM:613406
HP:0000316	Hypertelorism	25942	SIN3A	ORPHA:94065
HP:0000316	Hypertelorism	79053	ALG8	OMIM:608104
HP:0000316	Hypertelorism	79053	ALG8	ORPHA:79325
HP:0000316	Hypertelorism	526	ATP6V1B2	ORPHA:3473
HP:0000316	Hypertelorism	526	ATP6V1B2	ORPHA:79500
HP:0000316	Hypertelorism	3756	KCNH1	ORPHA:3473
HP:0000316	Hypertelorism	3756	KCNH1	OMIM:611816
HP:0000316	Hypertelorism	3756	KCNH1	ORPHA:420561
HP:0000316	Hypertelorism	3782	KCNN3	ORPHA:3473
HP:0000316	Hypertelorism	3425	IDUA	OMIM:607014
HP:0000316	Hypertelorism	175	AGA	ORPHA:93
HP:0000316	Hypertelorism	53834	FGFRL1	OMIM:194190
HP:0000316	Hypertelorism	1487	CTBP1	OMIM:194190
HP:0000316	Hypertelorism	1487	CTBP1	ORPHA:280
HP:0000316	Hypertelorism	3954	LETM1	OMIM:194190
HP:0000316	Hypertelorism	3954	LETM1	ORPHA:280
HP:0000316	Hypertelorism	10815	CPLX1	OMIM:194190
HP:0000316	Hypertelorism	10815	CPLX1	ORPHA:280
HP:0000316	Hypertelorism	10815	CPLX1	OMIM:617976
HP:0000316	Hypertelorism	54496	PRMT7	ORPHA:464288
HP:0000316	Hypertelorism	54496	PRMT7	OMIM:617157
HP:0000316	Hypertelorism	3192	HNRNPU	ORPHA:238769
HP:0000316	Hypertelorism	9653	HS2ST1	OMIM:619194
HP:0000316	Hypertelorism	5447	POR	OMIM:201750
HP:0000316	Hypertelorism	57217	TTC7A	OMIM:243150
HP:0000316	Hypertelorism	56006	SMG9	OMIM:616920
HP:0000316	Hypertelorism	64327	LMBR1	ORPHA:2378
HP:0000316	Hypertelorism	147372	CCBE1	ORPHA:2136
HP:0000316	Hypertelorism	147372	CCBE1	OMIM:235510
HP:0000316	Hypertelorism	26053	AUTS2	OMIM:615834
HP:0000316	Hypertelorism	26053	AUTS2	ORPHA:352490
HP:0000316	Hypertelorism	54499	TMCO1	OMIM:213980
HP:0000316	Hypertelorism	54499	TMCO1	ORPHA:1394
HP:0000316	Hypertelorism	11128	POLR3A	OMIM:264090
HP:0000316	Hypertelorism	11128	POLR3A	ORPHA:3455
HP:0000316	Hypertelorism	3675	ITGA3	OMIM:614748
HP:0000316	Hypertelorism	8085	KMT2D	OMIM:620186
HP:0000316	Hypertelorism	10907	TXNL4A	OMIM:608572
HP:0000316	Hypertelorism	10907	TXNL4A	ORPHA:1200
HP:0000316	Hypertelorism	8050	PDHX	OMIM:245349
HP:0000316	Hypertelorism	4094	MAF	ORPHA:1272
HP:0000316	Hypertelorism	4094	MAF	OMIM:601088
HP:0000316	Hypertelorism	23522	KAT6B	ORPHA:85201
HP:0000316	Hypertelorism	23261	CAMTA1	OMIM:614756
HP:0000316	Hypertelorism	8481	OFD1	OMIM:311200
HP:0000316	Hypertelorism	8481	OFD1	ORPHA:2750
HP:0000316	Hypertelorism	8481	OFD1	ORPHA:2754
HP:0000316	Hypertelorism	182	JAG1	OMIM:118450
HP:0000316	Hypertelorism	10472	ZBTB18	OMIM:612337
HP:0000316	Hypertelorism	10472	ZBTB18	ORPHA:36367
HP:0000316	Hypertelorism	137814	NKX2-6	OMIM:217095
HP:0000316	Hypertelorism	1482	NKX2-5	OMIM:217095
HP:0000316	Hypertelorism	2627	GATA6	OMIM:217095
HP:0000316	Hypertelorism	55343	SLC35C1	ORPHA:99843
HP:0000316	Hypertelorism	2535	FZD2	OMIM:164745
HP:0000316	Hypertelorism	2535	FZD2	ORPHA:3107
HP:0000316	Hypertelorism	2535	FZD2	ORPHA:93328
HP:0000316	Hypertelorism	8813	DPM1	OMIM:608799
HP:0000316	Hypertelorism	8813	DPM1	ORPHA:79322
HP:0000316	Hypertelorism	6905	TBCE	OMIM:244460
HP:0000316	Hypertelorism	6905	TBCE	ORPHA:93324
HP:0000316	Hypertelorism	9652	SKIC3	OMIM:222470
HP:0000316	Hypertelorism	9652	SKIC3	ORPHA:84064
HP:0000316	Hypertelorism	27086	FOXP1	OMIM:613670
HP:0000316	Hypertelorism	27086	FOXP1	ORPHA:391372
HP:0000316	Hypertelorism	6611	SMS	OMIM:309583
HP:0000316	Hypertelorism	6611	SMS	ORPHA:3063
HP:0000316	Hypertelorism	2146	EZH2	OMIM:277590
HP:0000316	Hypertelorism	2146	EZH2	ORPHA:3447
HP:0000316	Hypertelorism	7048	TGFBR2	OMIM:610168
HP:0000316	Hypertelorism	7048	TGFBR2	ORPHA:60030
HP:0000316	Hypertelorism	7048	TGFBR2	ORPHA:91387
HP:0000316	Hypertelorism	22856	CHSY1	OMIM:605282
HP:0000316	Hypertelorism	6509	SLC1A4	ORPHA:447997
HP:0000316	Hypertelorism	701	BUB1B	OMIM:257300
HP:0000316	Hypertelorism	8726	EED	ORPHA:3447
HP:0000316	Hypertelorism	8726	EED	OMIM:617561
HP:0000316	Hypertelorism	7546	ZIC2	OMIM:609637
HP:0000316	Hypertelorism	55023	PHIP	ORPHA:589905
HP:0000316	Hypertelorism	55023	PHIP	OMIM:617991
HP:0000316	Hypertelorism	29123	ANKRD11	OMIM:148050
HP:0000316	Hypertelorism	29123	ANKRD11	ORPHA:2332
HP:0000316	Hypertelorism	91252	SLC39A13	OMIM:612350
HP:0000316	Hypertelorism	4208	MEF2C	OMIM:613443
HP:0000316	Hypertelorism	7319	UBE2A	ORPHA:163956
HP:0000316	Hypertelorism	7319	UBE2A	OMIM:300860
HP:0000316	Hypertelorism	57724	EPG5	ORPHA:1493
HP:0000316	Hypertelorism	57724	EPG5	OMIM:242840
HP:0000316	Hypertelorism	56052	ALG1	OMIM:608540
HP:0000316	Hypertelorism	10075	HUWE1	OMIM:309590
HP:0000316	Hypertelorism	2245	FGD1	OMIM:305400
HP:0000316	Hypertelorism	2245	FGD1	ORPHA:915
HP:0000316	Hypertelorism	5648	MASP1	OMIM:257920
HP:0000316	Hypertelorism	5648	MASP1	ORPHA:293843
HP:0000316	Hypertelorism	132	ADK	OMIM:614300
HP:0000316	Hypertelorism	2733	GLE1	ORPHA:1486
HP:0000316	Hypertelorism	23394	ADNP	OMIM:615873
HP:0000316	Hypertelorism	11133	KPTN	OMIM:615637
HP:0000316	Hypertelorism	8092	ALX1	OMIM:613456
HP:0000316	Hypertelorism	8092	ALX1	ORPHA:306542
HP:0000316	Hypertelorism	79796	ALG9	OMIM:608776
HP:0000316	Hypertelorism	79796	ALG9	ORPHA:79328
HP:0000316	Hypertelorism	79796	ALG9	OMIM:263210
HP:0000316	Hypertelorism	79650	USB1	OMIM:604173
HP:0000316	Hypertelorism	55593	OTUD5	OMIM:301056
HP:0000316	Hypertelorism	4854	NOTCH3	OMIM:130720
HP:0000316	Hypertelorism	4854	NOTCH3	ORPHA:2789
HP:0000316	Hypertelorism	84162	BLTP1	OMIM:617822
HP:0000316	Hypertelorism	473	RERE	OMIM:616975
HP:0000316	Hypertelorism	4893	NRAS	OMIM:613224
HP:0000316	Hypertelorism	4893	NRAS	OMIM:137550
HP:0000316	Hypertelorism	4893	NRAS	ORPHA:648
HP:0000316	Hypertelorism	998	CDC42	OMIM:616737
HP:0000316	Hypertelorism	998	CDC42	ORPHA:487796
HP:0000316	Hypertelorism	79644	SRD5A3	OMIM:612379
HP:0000316	Hypertelorism	117581	TWIST2	ORPHA:1231
HP:0000316	Hypertelorism	117581	TWIST2	OMIM:209885
HP:0000316	Hypertelorism	117581	TWIST2	OMIM:200110
HP:0000316	Hypertelorism	3097	HIVEP2	OMIM:616977
HP:0000316	Hypertelorism	10982	MAPRE2	OMIM:616734
HP:0000316	Hypertelorism	23097	CDK19	OMIM:618916
HP:0000316	Hypertelorism	7547	ZIC3	OMIM:306955
HP:0000316	Hypertelorism	63035	BCORL1	OMIM:301029
HP:0000316	Hypertelorism	57211	ADGRG6	OMIM:616503
HP:0000316	Hypertelorism	3759	KCNJ2	OMIM:170390
HP:0000316	Hypertelorism	3759	KCNJ2	ORPHA:37553
HP:0000316	Hypertelorism	157570	ESCO2	ORPHA:2319
HP:0000316	Hypertelorism	157570	ESCO2	OMIM:216100
HP:0000316	Hypertelorism	157570	ESCO2	ORPHA:3103
HP:0000316	Hypertelorism	157570	ESCO2	OMIM:268300
HP:0000316	Hypertelorism	1000	CDH2	OMIM:618929
HP:0000316	Hypertelorism	60	ACTB	ORPHA:79107
HP:0000316	Hypertelorism	60	ACTB	OMIM:243310
HP:0000316	Hypertelorism	60	ACTB	ORPHA:2995
HP:0000316	Hypertelorism	23028	KDM1A	ORPHA:477993
HP:0000316	Hypertelorism	83696	TRAPPC9	ORPHA:352530
HP:0000316	Hypertelorism	83696	TRAPPC9	OMIM:613192
HP:0000316	Hypertelorism	860	RUNX2	ORPHA:1452
HP:0000316	Hypertelorism	860	RUNX2	OMIM:119600
HP:0000316	Hypertelorism	6638	SNRPN	ORPHA:177907
HP:0000316	Hypertelorism	2313	FLI1	ORPHA:2308
HP:0000316	Hypertelorism	10664	CTCF	ORPHA:363611
HP:0000316	Hypertelorism	10664	CTCF	OMIM:615502
HP:0000316	Hypertelorism	71	ACTG1	OMIM:614583
HP:0000316	Hypertelorism	71	ACTG1	ORPHA:2995
HP:0000316	Hypertelorism	10367	MICU1	OMIM:615673
HP:0000316	Hypertelorism	2517	FUCA1	OMIM:230000
HP:0000316	Hypertelorism	25885	POLR1A	ORPHA:1200
HP:0000316	Hypertelorism	9894	TELO2	ORPHA:488642
HP:0000316	Hypertelorism	4329	ALDH6A1	OMIM:614105
HP:0000316	Hypertelorism	3265	HRAS	OMIM:137550
HP:0000316	Hypertelorism	3265	HRAS	OMIM:218040
HP:0000316	Hypertelorism	23556	PIGN	ORPHA:280633
HP:0000316	Hypertelorism	23556	PIGN	OMIM:614080
HP:0000316	Hypertelorism	23556	PIGN	ORPHA:2059
HP:0000316	Hypertelorism	55617	TASP1	OMIM:618950
HP:0000316	Hypertelorism	112752	IFT43	OMIM:617866
HP:0000316	Hypertelorism	92335	STRADA	OMIM:611087
HP:0000316	Hypertelorism	1806	DPYD	ORPHA:1675
HP:0000316	Hypertelorism	113246	C12orf57	OMIM:218340
HP:0000316	Hypertelorism	139285	AMER1	OMIM:300373
HP:0000316	Hypertelorism	54888	NSUN2	OMIM:611091
HP:0000316	Hypertelorism	54888	NSUN2	ORPHA:235
HP:0000316	Hypertelorism	5331	PLCB3	OMIM:618961
HP:0000316	Hypertelorism	153241	CEP120	OMIM:616300
HP:0000316	Hypertelorism	23247	KATNIP	OMIM:616784
HP:0000316	Hypertelorism	1748	DLX4	OMIM:616788
HP:0000316	Hypertelorism	4000	LMNA	ORPHA:1662
HP:0000316	Hypertelorism	10269	ZMPSTE24	ORPHA:1662
HP:0000316	Hypertelorism	10269	ZMPSTE24	OMIM:275210
HP:0000316	Hypertelorism	23389	MED13L	OMIM:616789
HP:0000316	Hypertelorism	23389	MED13L	ORPHA:369891
HP:0000316	Hypertelorism	4621	MYH3	ORPHA:2990
HP:0000316	Hypertelorism	4621	MYH3	ORPHA:2053
HP:0000316	Hypertelorism	1146	CHRNG	ORPHA:2990
HP:0000316	Hypertelorism	1146	CHRNG	OMIM:265000
HP:0000316	Hypertelorism	1146	CHRNG	OMIM:253290
HP:0000316	Hypertelorism	3778	KCNMA1	OMIM:618729
HP:0000316	Hypertelorism	10210	TOPORS	ORPHA:2754
HP:0000316	Hypertelorism	9851	KIAA0753	ORPHA:2754
HP:0000316	Hypertelorism	9851	KIAA0753	OMIM:617127
HP:0000316	Hypertelorism	5147	PDE6D	ORPHA:2754
HP:0000316	Hypertelorism	317662	FAM149B1	ORPHA:2754
HP:0000316	Hypertelorism	11141	IL1RAPL1	OMIM:300143
HP:0000316	Hypertelorism	55553	SOX6	OMIM:618971
HP:0000316	Hypertelorism	57647	DHX37	OMIM:618731
HP:0000316	Hypertelorism	10736	SIX2	ORPHA:488437
HP:0000316	Hypertelorism	79875	THSD4	OMIM:619825
HP:0000316	Hypertelorism	4281	MID1	ORPHA:2745
HP:0000316	Hypertelorism	4281	MID1	OMIM:300000
HP:0000316	Hypertelorism	523	ATP6V1A	OMIM:617403
HP:0000316	Hypertelorism	523	ATP6V1A	ORPHA:357074
HP:0000316	Hypertelorism	529	ATP6V1E1	OMIM:617402
HP:0000316	Hypertelorism	529	ATP6V1E1	ORPHA:357074
HP:0000316	Hypertelorism	6655	SOS2	OMIM:616559
HP:0000316	Hypertelorism	6655	SOS2	ORPHA:648
HP:0000316	Hypertelorism	6929	TCF3	OMIM:619824
HP:0000316	Hypertelorism	6929	TCF3	ORPHA:33110
HP:0000316	Hypertelorism	1278	COL1A2	ORPHA:1899
HP:0000316	Hypertelorism	1277	COL1A1	ORPHA:1899
HP:0000316	Hypertelorism	3762	KCNJ5	ORPHA:37553
HP:0000316	Hypertelorism	11253	MAN1B1	ORPHA:397941
HP:0000316	Hypertelorism	11253	MAN1B1	OMIM:614202
HP:0000316	Hypertelorism	10617	STAMBP	OMIM:614261
HP:0000316	Hypertelorism	8294	H4C9	OMIM:619951
HP:0000316	Hypertelorism	50651	SLC45A1	OMIM:617532
HP:0000316	Hypertelorism	9853	RUSC2	OMIM:617773
HP:0000316	Hypertelorism	56172	ANKH	ORPHA:1522
HP:0000316	Hypertelorism	56172	ANKH	OMIM:123000
HP:0000316	Hypertelorism	8425	LTBP4	OMIM:613177
HP:0000316	Hypertelorism	6016	RIT1	OMIM:615355
HP:0000316	Hypertelorism	6016	RIT1	ORPHA:648
HP:0000316	Hypertelorism	1947	EFNB1	ORPHA:1520
HP:0000316	Hypertelorism	1947	EFNB1	OMIM:304110
HP:0000316	Hypertelorism	5830	PEX5	OMIM:214110
HP:0000316	Hypertelorism	9786	KIAA0586	ORPHA:397715
HP:0000316	Hypertelorism	116931	MED12L	OMIM:618872
HP:0000316	Hypertelorism	3020	H3-3A	OMIM:619720
HP:0000316	Hypertelorism	79639	TMEM53	OMIM:619727
HP:0000316	Hypertelorism	23384	SPECC1L	ORPHA:1519
HP:0000316	Hypertelorism	23384	SPECC1L	OMIM:145420
HP:0000316	Hypertelorism	5189	PEX1	OMIM:214100
HP:0000316	Hypertelorism	999	CDH1	ORPHA:1997
HP:0000316	Hypertelorism	999	CDH1	OMIM:119580
HP:0000316	Hypertelorism	2590	GALNT2	OMIM:618885
HP:0000316	Hypertelorism	10584	COLEC10	OMIM:248340
HP:0000316	Hypertelorism	10584	COLEC10	ORPHA:293843
HP:0000316	Hypertelorism	55870	ASH1L	OMIM:617796
HP:0000316	Hypertelorism	9469	CHST3	OMIM:143095
HP:0000316	Hypertelorism	9469	CHST3	ORPHA:263463
HP:0000316	Hypertelorism	9469	CHST3	OMIM:245600
HP:0000316	Hypertelorism	9692	PRORP	OMIM:619737
HP:0000316	Hypertelorism	4853	NOTCH2	OMIM:102500
HP:0000316	Hypertelorism	4853	NOTCH2	ORPHA:955
HP:0000316	Hypertelorism	51319	RSRC1	OMIM:618402
HP:0000316	Hypertelorism	79184	BRCC3	ORPHA:280679
HP:0000316	Hypertelorism	4920	ROR2	ORPHA:1507
HP:0000316	Hypertelorism	4920	ROR2	OMIM:268310
HP:0000316	Hypertelorism	7020	TFAP2A	OMIM:113620
HP:0000316	Hypertelorism	1281	COL3A1	ORPHA:286
HP:0000316	Hypertelorism	54872	PIGG	ORPHA:280
HP:0000316	Hypertelorism	54872	PIGG	ORPHA:488635
HP:0000316	Hypertelorism	7469	NELFA	ORPHA:280
HP:0000316	Hypertelorism	283987	HID1	OMIM:619983
HP:0000316	Hypertelorism	22884	WDR37	OMIM:618652
HP:0000316	Hypertelorism	1656	DDX6	OMIM:618653
HP:0000316	Hypertelorism	1501	CTNND2	ORPHA:281
HP:0000316	Hypertelorism	9037	SEMA5A	ORPHA:281
HP:0000316	Hypertelorism	4297	KMT2A	ORPHA:319182
HP:0000316	Hypertelorism	4297	KMT2A	OMIM:605130
HP:0000316	Hypertelorism	55714	TENM3	OMIM:615145
HP:0000316	Hypertelorism	57178	ZMIZ1	OMIM:618659
HP:0000316	Hypertelorism	200734	SPRED2	OMIM:619745
HP:0000316	Hypertelorism	200734	SPRED2	ORPHA:648
HP:0000316	Hypertelorism	64132	XYLT2	ORPHA:85194
HP:0000316	Hypertelorism	55623	THUMPD1	OMIM:619989
HP:0000316	Hypertelorism	8241	RBM10	OMIM:311900
HP:0000316	Hypertelorism	8241	RBM10	ORPHA:2886
HP:0000316	Hypertelorism	1789	DNMT3B	OMIM:242860
HP:0000316	Hypertelorism	1789	DNMT3B	ORPHA:2268
HP:0000316	Hypertelorism	3981	LIG4	ORPHA:235
HP:0000316	Hypertelorism	253738	EBF3	OMIM:617330
HP:0000316	Hypertelorism	1182	CLCN3	OMIM:619512
HP:0000316	Hypertelorism	85301	COL27A1	OMIM:615155
HP:0000316	Hypertelorism	11154	AP4S1	OMIM:614067
HP:0000316	Hypertelorism	7862	BRPF1	OMIM:617333
HP:0000316	Hypertelorism	3572	IL6ST	OMIM:619750
HP:0000316	Hypertelorism	8363	H4C11	OMIM:619759
HP:0000316	Hypertelorism	5048	PAFAH1B1	ORPHA:217385
HP:0000316	Hypertelorism	7531	YWHAE	ORPHA:217385
HP:0000316	Hypertelorism	9841	ZBTB24	OMIM:614069
HP:0000316	Hypertelorism	9841	ZBTB24	ORPHA:2268
HP:0000316	Hypertelorism	8364	H4C3	OMIM:619758
HP:0000316	Hypertelorism	286	ANK1	ORPHA:251066
HP:0000316	Hypertelorism	4247	MGAT2	ORPHA:79329
HP:0000316	Hypertelorism	26137	ZBTB20	OMIM:259050
HP:0000316	Hypertelorism	7750	ZMYM2	OMIM:619522
HP:0000316	Hypertelorism	8733	GPAA1	ORPHA:529665
HP:0000316	Hypertelorism	4849	CNOT3	OMIM:618672
HP:0000316	Hypertelorism	9158	FIBP	OMIM:617107
HP:0000316	Hypertelorism	9158	FIBP	ORPHA:500095
HP:0000316	Hypertelorism	2542	SLC37A4	OMIM:619525
HP:0000316	Hypertelorism	25973	PARS2	OMIM:618437
HP:0000316	Hypertelorism	57492	ARID1B	ORPHA:251056
HP:0000316	Hypertelorism	57492	ARID1B	OMIM:135900
HP:0000316	Hypertelorism	2683	B4GALT1	ORPHA:79332
HP:0000316	Hypertelorism	5354	PLP1	ORPHA:280229
HP:0000316	Hypertelorism	2271	FH	OMIM:606812
HP:0000316	Hypertelorism	5373	PMM2	ORPHA:79318
HP:0000316	Hypertelorism	7030	TFE3	OMIM:301066
HP:0000316	Hypertelorism	51651	PTRH2	OMIM:616263
HP:0000316	Hypertelorism	51651	PTRH2	ORPHA:456312
HP:0000316	Hypertelorism	23162	MAPK8IP3	OMIM:618443
HP:0000316	Hypertelorism	4123	MAN2C1	OMIM:619775
HP:0000316	Hypertelorism	79989	IFT56	OMIM:619534
HP:0000316	Hypertelorism	1107	CHD3	OMIM:618205
HP:0000316	Hypertelorism	6261	RYR1	ORPHA:324581
HP:0000316	Hypertelorism	6261	RYR1	OMIM:619542
HP:0000316	Hypertelorism	404672	GTF2H5	ORPHA:33364
HP:0000316	Hypertelorism	833	CARS1	ORPHA:33364
HP:0000316	Hypertelorism	2068	ERCC2	ORPHA:33364
HP:0000316	Hypertelorism	7737	RNF113A	ORPHA:33364
HP:0000316	Hypertelorism	136647	MPLKIP	ORPHA:33364
HP:0000316	Hypertelorism	6897	TARS1	ORPHA:33364
HP:0000316	Hypertelorism	2071	ERCC3	ORPHA:33364
HP:0000316	Hypertelorism	2961	GTF2E2	ORPHA:33364
HP:0000316	Hypertelorism	29929	ALG6	ORPHA:79320
HP:0000316	Hypertelorism	8295	TRRAP	OMIM:618454
HP:0000316	Hypertelorism	8621	CDK13	OMIM:617360
HP:0000316	Hypertelorism	29968	PSAT1	OMIM:616038
HP:0000316	Hypertelorism	29968	PSAT1	ORPHA:284417
HP:0000316	Hypertelorism	164	AP1G1	OMIM:619548
HP:0000316	Hypertelorism	55770	EXOC2	OMIM:619306
HP:0000316	Hypertelorism	6654	SOS1	OMIM:610733
HP:0000316	Hypertelorism	6654	SOS1	ORPHA:648
HP:0000316	Hypertelorism	973	CD79A	ORPHA:33110
HP:0000316	Hypertelorism	974	CD79B	ORPHA:33110
HP:0000316	Hypertelorism	3543	IGLL1	ORPHA:33110
HP:0000316	Hypertelorism	3507	IGHM	ORPHA:33110
HP:0000316	Hypertelorism	29760	BLNK	ORPHA:33110
HP:0000316	Hypertelorism	56262	LRRC8A	ORPHA:33110
HP:0000316	Hypertelorism	56262	LRRC8A	OMIM:613506
HP:0000316	Hypertelorism	81848	SPRY4	ORPHA:432
HP:0000316	Hypertelorism	128674	PROKR2	ORPHA:432
HP:0000316	Hypertelorism	2253	FGF8	ORPHA:432
HP:0000316	Hypertelorism	60675	PROK2	ORPHA:432
HP:0000316	Hypertelorism	6870	TACR3	ORPHA:432
HP:0000316	Hypertelorism	1848	DUSP6	ORPHA:432
HP:0000316	Hypertelorism	26012	NSMF	ORPHA:432
HP:0000316	Hypertelorism	55717	WDR11	ORPHA:432
HP:0000316	Hypertelorism	9394	HS6ST1	ORPHA:432
HP:0000316	Hypertelorism	2796	GNRH1	ORPHA:432
HP:0000316	Hypertelorism	2798	GNRHR	ORPHA:432
HP:0000316	Hypertelorism	84634	KISS1R	ORPHA:432
HP:0000316	Hypertelorism	6866	TAC3	ORPHA:432
HP:0000316	Hypertelorism	8822	FGF17	ORPHA:432
HP:0000316	Hypertelorism	3814	KISS1	ORPHA:432
HP:0000316	Hypertelorism	6909	TBX2	OMIM:618223
HP:0000316	Hypertelorism	23013	SPEN	OMIM:619312
HP:0000316	Hypertelorism	9759	HDAC4	OMIM:619797
HP:0000316	Hypertelorism	6477	SIAH1	OMIM:619314
HP:0000316	Hypertelorism	6323	SCN1A	OMIM:619317
HP:0000316	Hypertelorism	100151683	RNU4ATAC	ORPHA:353298
HP:0000316	Hypertelorism	51412	ACTL6B	OMIM:618470
HP:0000316	Hypertelorism	5631	PRPS1	ORPHA:423479
HP:0000316	Hypertelorism	55869	HDAC8	OMIM:300882
HP:0000316	Hypertelorism	1349	COX7B	OMIM:300887
HP:0000316	Hypertelorism	650	BMP2	ORPHA:261295
HP:0000316	Hypertelorism	9871	SEC24D	OMIM:616294
HP:0000316	Hypertelorism	29998	BICRA	OMIM:619325
HP:0000316	Hypertelorism	9342	SNAP29	ORPHA:66631
HP:0000316	Hypertelorism	9342	SNAP29	OMIM:609528
HP:0000316	Hypertelorism	2033	EP300	ORPHA:353284
HP:0000316	Hypertelorism	2033	EP300	OMIM:180849
HP:0000316	Hypertelorism	26128	KIFBP	ORPHA:66629
HP:0000316	Hypertelorism	2710	GK	OMIM:307030
HP:0000316	Hypertelorism	6904	TBCD	ORPHA:496641
HP:0000316	Hypertelorism	6904	TBCD	OMIM:617193
HP:0000316	Hypertelorism	83999	KREMEN1	OMIM:617392
HP:0000316	Hypertelorism	57551	TAOK1	OMIM:619575
HP:0000316	Hypertelorism	50619	DEF6	OMIM:619573
HP:0000316	Hypertelorism	8260	NAA10	OMIM:300855
HP:0000316	Hypertelorism	1108	CHD4	OMIM:617159
HP:0000316	Hypertelorism	5831	PYCR1	OMIM:612940
HP:0000316	Hypertelorism	5831	PYCR1	OMIM:614438
HP:0000316	Hypertelorism	29920	PYCR2	ORPHA:481152
HP:0000316	Hypertelorism	9969	MED13	OMIM:618009
HP:0000316	Hypertelorism	1280	COL2A1	ORPHA:94068
HP:0000316	Hypertelorism	1280	COL2A1	ORPHA:93346
HP:0000316	Hypertelorism	92344	GORAB	OMIM:231070
HP:0000316	Hypertelorism	2077	ERF	ORPHA:207
HP:0000316	Hypertelorism	2077	ERF	OMIM:617180
HP:0000316	Hypertelorism	2077	ERF	OMIM:600775
HP:0000316	Hypertelorism	8604	SLC25A12	OMIM:612949
HP:0000316	Hypertelorism	80324	PUS1	OMIM:600462
HP:0000316	Hypertelorism	9496	TBX4	ORPHA:261279
HP:0000316	Hypertelorism	8091	HMGA2	ORPHA:94063
HP:0000316	Hypertelorism	23592	LEMD3	ORPHA:94063
HP:0000316	Hypertelorism	22808	MRAS	OMIM:618499
HP:0000316	Hypertelorism	22808	MRAS	ORPHA:648
HP:0000316	Hypertelorism	9451	EIF2AK3	OMIM:226980
HP:0000316	Hypertelorism	5277	PIGA	OMIM:300868
HP:0000316	Hypertelorism	5144	PDE4D	ORPHA:439822
HP:0000316	Hypertelorism	5144	PDE4D	ORPHA:950
HP:0000316	Hypertelorism	2475	MTOR	ORPHA:457485
HP:0000316	Hypertelorism	2475	MTOR	OMIM:616638
HP:0000316	Hypertelorism	6023	RMRP	OMIM:607095
HP:0000316	Hypertelorism	5573	PRKAR1A	OMIM:101800
HP:0000316	Hypertelorism	5573	PRKAR1A	ORPHA:950
HP:0000316	Hypertelorism	57187	THOC2	ORPHA:457240
HP:0000316	Hypertelorism	9791	PTDSS1	OMIM:151050
HP:0000316	Hypertelorism	9791	PTDSS1	ORPHA:2658
HP:0000316	Hypertelorism	10771	ZMYND11	OMIM:616083
HP:0000316	Hypertelorism	57003	CCDC47	OMIM:618268
HP:0000316	Hypertelorism	5977	DPF2	OMIM:618027
HP:0000316	Hypertelorism	340419	RSPO2	OMIM:618021
HP:0000316	Hypertelorism	4041	LRP5	ORPHA:178377
HP:0000316	Hypertelorism	145173	B3GLCT	OMIM:261540
HP:0000316	Hypertelorism	145173	B3GLCT	ORPHA:709
HP:0000316	Hypertelorism	1387	CREBBP	OMIM:180849
HP:0000316	Hypertelorism	1387	CREBBP	ORPHA:353277
HP:0000316	Hypertelorism	79005	SCNM1	OMIM:620107
HP:0000316	Hypertelorism	285590	SH3PXD2B	ORPHA:137834
HP:0000316	Hypertelorism	285590	SH3PXD2B	OMIM:249420
HP:0000316	Hypertelorism	4796	TONSL	OMIM:271510
HP:0000316	Hypertelorism	57465	TBC1D24	ORPHA:79500
HP:0000316	Hypertelorism	57465	TBC1D24	OMIM:220500
HP:0000316	Hypertelorism	10653	SPINT2	OMIM:270420
HP:0000316	Hypertelorism	84172	POLR1B	ORPHA:861
HP:0000316	Hypertelorism	9533	POLR1C	ORPHA:861
HP:0000316	Hypertelorism	51082	POLR1D	ORPHA:861
HP:0000316	Hypertelorism	6949	TCOF1	ORPHA:861
HP:0000316	Hypertelorism	23405	DICER1	OMIM:618272
HP:0000316	Hypertelorism	2571	GAD1	OMIM:619124
HP:0000316	Hypertelorism	90416	CCDC32	OMIM:619123
HP:0000316	Hypertelorism	118924	FRA10AC1	OMIM:620113
HP:0000316	Hypertelorism	55252	ASXL2	OMIM:617190
HP:0000316	Hypertelorism	57020	VPS35L	OMIM:619135
HP:0000316	Hypertelorism	23154	NCDN	OMIM:619373
HP:0000316	Hypertelorism	1984	EIF5A	OMIM:619376
HP:0000316	Hypertelorism	55835	CENPJ	OMIM:608393
HP:0000316	Hypertelorism	3295	HSD17B4	OMIM:261515
HP:0000316	Hypertelorism	22800	RRAS2	ORPHA:648
HP:0000316	Hypertelorism	867	CBL	ORPHA:648
HP:0000316	Hypertelorism	867	CBL	OMIM:613563
HP:0000316	Hypertelorism	6237	RRAS	ORPHA:648
HP:0000316	Hypertelorism	3845	KRAS	ORPHA:648
HP:0000316	Hypertelorism	3845	KRAS	ORPHA:1340
HP:0000316	Hypertelorism	3845	KRAS	OMIM:609942
HP:0000316	Hypertelorism	5922	RASA2	ORPHA:648
HP:0000316	Hypertelorism	11011	TLK2	OMIM:618050
HP:0000316	Hypertelorism	129285	PPP1R21	OMIM:619383
HP:0000316	Hypertelorism	6913	TBX15	OMIM:260660
HP:0000316	Hypertelorism	6913	TBX15	ORPHA:93333
HP:0000316	Hypertelorism	5567	PRKACB	OMIM:619143
HP:0000316	Hypertelorism	221692	PHACTR1	OMIM:618298
HP:0000316	Hypertelorism	6499	SKIC2	ORPHA:84064
HP:0000316	Hypertelorism	6499	SKIC2	OMIM:614602
HP:0000316	Hypertelorism	5605	MAP2K2	ORPHA:638
HP:0000316	Hypertelorism	5605	MAP2K2	ORPHA:1340
HP:0000316	Hypertelorism	11113	CIT	OMIM:617090
HP:0000316	Hypertelorism	10128	LRPPRC	OMIM:220111
HP:0000316	Hypertelorism	9131	AIFM1	OMIM:300232
HP:0000316	Hypertelorism	259232	NALCN	ORPHA:2053
HP:0000316	Hypertelorism	341640	FREM2	ORPHA:2052
HP:0000316	Hypertelorism	23426	GRIP1	ORPHA:2052
HP:0000316	Hypertelorism	95	ACY1	ORPHA:137754
HP:0000316	Hypertelorism	95	ACY1	OMIM:609924
HP:0000316	Hypertelorism	118987	PDZD8	OMIM:620021
HP:0000316	Hypertelorism	2629	GBA1	OMIM:608013
HP:0000316	Hypertelorism	58	ACTA1	ORPHA:171433
HP:0000316	Hypertelorism	58	ACTA1	ORPHA:171439
HP:0000316	Hypertelorism	10324	KLHL41	ORPHA:171433
HP:0000316	Hypertelorism	10324	KLHL41	ORPHA:171439
HP:0000316	Hypertelorism	7170	TPM3	ORPHA:171433
HP:0000316	Hypertelorism	7170	TPM3	ORPHA:171439
HP:0000316	Hypertelorism	9442	MED27	OMIM:619286
HP:0000316	Hypertelorism	6595	SMARCA2	OMIM:619293
HP:0000316	Hypertelorism	3899	AFF3	OMIM:619297
HP:0000316	Hypertelorism	9739	SETD1A	OMIM:619056
HP:0000316	Hypertelorism	4591	TRIM37	OMIM:253250
HP:0000316	Hypertelorism	10352	WARS2	ORPHA:572798
HP:0000316	Hypertelorism	4338	MOCS2	OMIM:252160
HP:0000316	Hypertelorism	57167	SALL4	ORPHA:959
HP:0000316	Hypertelorism	57167	SALL4	OMIM:607323
HP:0000316	Hypertelorism	1302	COL11A2	ORPHA:2021
HP:0000316	Hypertelorism	657	BMPR1A	ORPHA:79076
HP:0000316	Hypertelorism	5826	ABCD4	OMIM:614857
HP:0000316	Hypertelorism	26227	PHGDH	OMIM:256520
HP:0000316	Hypertelorism	4953	ODC1	OMIM:619075
HP:0000316	Hypertelorism	4953	ODC1	ORPHA:544488
HP:0000316	Hypertelorism	5190	PEX6	OMIM:614862
HP:0000316	Hypertelorism	5190	PEX6	OMIM:614863
HP:0000316	Hypertelorism	1857	DVL3	ORPHA:3107
HP:0000316	Hypertelorism	1857	DVL3	OMIM:616894
HP:0000316	Hypertelorism	5828	PEX2	OMIM:614866
HP:0000316	Hypertelorism	81031	SLC2A10	ORPHA:3342
HP:0000316	Hypertelorism	81031	SLC2A10	OMIM:208050
HP:0000316	Hypertelorism	55027	HEATR3	OMIM:620072
HP:0000316	Hypertelorism	78989	COLEC11	OMIM:265050
HP:0000316	Hypertelorism	78989	COLEC11	ORPHA:293843
HP:0000316	Hypertelorism	6774	STAT3	OMIM:147060
HP:0000316	Hypertelorism	4089	SMAD4	OMIM:139210
HP:0000316	Hypertelorism	4089	SMAD4	ORPHA:91387
HP:0000316	Hypertelorism	5159	PDGFRB	OMIM:601812
HP:0000316	Hypertelorism	5594	MAPK1	OMIM:619087
HP:0000316	Hypertelorism	5832	ALDH18A1	OMIM:219150
HP:0000316	Hypertelorism	10430	TMEM147	OMIM:620075
HP:0000316	Hypertelorism	63895	PIEZO2	OMIM:248700
HP:0000316	Hypertelorism	4677	NARS1	OMIM:619092
HP:0000316	Hypertelorism	8504	PEX3	OMIM:614882
HP:0000316	Hypertelorism	84665	MYPN	ORPHA:171439
HP:0000316	Hypertelorism	7169	TPM2	ORPHA:171439
HP:0000316	Hypertelorism	390594	KBTBD13	ORPHA:171439
HP:0000316	Hypertelorism	55681	SCYL2	ORPHA:1143
HP:0000316	Hypertelorism	84570	COL25A1	ORPHA:1143
HP:0000316	Hypertelorism	57222	ERGIC1	ORPHA:1143
HP:0000316	Hypertelorism	79791	FBXO31	OMIM:615979
HP:0000316	Hypertelorism	4313	MMP2	OMIM:259600
HP:0000316	Hypertelorism	55212	BBS7	OMIM:615984
HP:0000316	Hypertelorism	2702	GJA5	OMIM:612474
HP:0000316	Hypertelorism	2703	GJA8	OMIM:612474
HP:0000316	Hypertelorism	27152	INTU	OMIM:617925
HP:0000316	Hypertelorism	1144	CHRND	OMIM:253290
HP:0000316	Hypertelorism	1134	CHRNA1	OMIM:253290
HP:0000316	Hypertelorism	6497	SKI	ORPHA:2462
HP:0000316	Hypertelorism	6497	SKI	OMIM:182212
HP:0000316	Hypertelorism	90417	KNSTRN	OMIM:613328
HP:0000316	Hypertelorism	90417	KNSTRN	ORPHA:221139
HP:0000316	Hypertelorism	5293	PIK3CD	OMIM:613328
HP:0000316	Hypertelorism	5293	PIK3CD	ORPHA:221139
HP:0000316	Hypertelorism	3720	JARID2	OMIM:620098
HP:0000316	Hypertelorism	6938	TCF12	ORPHA:35099
HP:0000316	Hypertelorism	7545	ZIC1	ORPHA:35099
HP:0000316	Hypertelorism	7545	ZIC1	OMIM:616602
HP:0000316	Hypertelorism	579	NKX3-2	OMIM:613330
HP:0000316	Hypertelorism	51621	KLF13	OMIM:612001
HP:0000316	Hypertelorism	1139	CHRNA7	OMIM:612001
HP:0000316	Hypertelorism	85358	SHANK3	OMIM:606232
HP:0000316	Hypertelorism	113179	ADAT3	ORPHA:363528
HP:0000316	Hypertelorism	55784	MCTP2	ORPHA:1596
HP:0000316	Hypertelorism	30008	EFEMP2	OMIM:614437
HP:0000316	Hypertelorism	10265	IRX5	OMIM:611174
HP:0000316	Hypertelorism	5530	PPP3CA	OMIM:617711
HP:0000316	Hypertelorism	5925	RB1	ORPHA:1587
HP:0000316	Hypertelorism	5604	MAP2K1	ORPHA:1340
HP:0000316	Hypertelorism	5604	MAP2K1	OMIM:163950
HP:0000316	Hypertelorism	9325	TRIP4	OMIM:616866
HP:0000316	Hypertelorism	1063	CENPF	OMIM:243605
HP:0000316	Hypertelorism	2248	FGF3	ORPHA:90024
HP:0000316	Hypertelorism	5718	PSMD12	ORPHA:529962
HP:0000316	Hypertelorism	5718	PSMD12	OMIM:617516
HP:0000316	Hypertelorism	2186	BPTF	ORPHA:529962
HP:0000316	Hypertelorism	2186	BPTF	OMIM:617755
HP:0000316	Hypertelorism	7067	THRA	OMIM:614450
HP:0000316	Hypertelorism	23065	EMC1	OMIM:616875
HP:0000316	Hypertelorism	57572	DOCK6	OMIM:614219
HP:0000316	Hypertelorism	59336	PRDM13	OMIM:619909
HP:0000316	Hypertelorism	4337	MOCS1	OMIM:252150
HP:0000316	Hypertelorism	51524	TMEM138	OMIM:614465
HP:0000316	Hypertelorism	4659	PPP1R12A	OMIM:618820
HP:0000316	Hypertelorism	54796	BNC2	ORPHA:93110
HP:0000316	Hypertelorism	8405	SPOP	OMIM:618829
HP:0000316	Hypertelorism	26047	CNTNAP2	ORPHA:163681
HP:0000316	Hypertelorism	54870	QRICH1	OMIM:617982
HP:0000316	Hypertelorism	83737	ITCH	OMIM:613385
HP:0000316	Hypertelorism	202018	TAPT1	OMIM:616897
HP:0000316	Hypertelorism	6608	SMO	ORPHA:1553
HP:0000316	Hypertelorism	4841	NONO	ORPHA:466791
HP:0000316	Hypertelorism	9320	TRIP12	OMIM:617752
HP:0000316	Hypertelorism	738	VPS51	OMIM:618606
HP:0000316	Hypertelorism	10312	TCIRG1	ORPHA:1782
HP:0000316	Hypertelorism	55315	SLC29A3	ORPHA:1782
HP:0000316	Hypertelorism	8792	TNFRSF11A	ORPHA:1782
HP:0000316	Hypertelorism	5430	POLR2A	OMIM:618603
HP:0000316	Hypertelorism	26229	B3GAT3	OMIM:245600
HP:0000316	Hypertelorism	5307	PITX1	OMIM:119800
HP:0000316	Hypertelorism	92935	MARS2	OMIM:616430
HP:0000316	Hypertelorism	7043	TGFB3	OMIM:615582
HP:0000316	Hypertelorism	7043	TGFB3	ORPHA:91387
HP:0000316	Hypertelorism	2036	EPB41L1	OMIM:614257
HP:0000316	Hypertelorism	4629	MYH11	ORPHA:91387
HP:0000316	Hypertelorism	4015	LOX	ORPHA:91387
HP:0000316	Hypertelorism	4087	SMAD2	ORPHA:91387
HP:0000316	Hypertelorism	59	ACTA2	ORPHA:91387
HP:0000316	Hypertelorism	5592	PRKG1	ORPHA:91387
HP:0000316	Hypertelorism	2301	FOXE3	ORPHA:91387
HP:0000316	Hypertelorism	4144	MAT2A	ORPHA:91387
HP:0000316	Hypertelorism	23493	HEY2	ORPHA:91387
HP:0000316	Hypertelorism	8076	MFAP5	ORPHA:91387
HP:0000316	Hypertelorism	4638	MYLK	ORPHA:91387
HP:0000316	Hypertelorism	2006	ELN	ORPHA:91387
HP:0000316	Hypertelorism	63901	FAM111A	ORPHA:93325
HP:0000316	Hypertelorism	9990	SLC12A6	OMIM:218000
HP:0002002	Deep philtrum	9653	HS2ST1	OMIM:619194
HP:0002002	Deep philtrum	50801	KCNK4	OMIM:618381
HP:0002002	Deep philtrum	253738	EBF3	OMIM:617330
HP:0002002	Deep philtrum	8367	H4C5	OMIM:619950
HP:0002002	Deep philtrum	8294	H4C9	OMIM:619951
HP:0002002	Deep philtrum	51604	PIGT	OMIM:615398
HP:0002002	Deep philtrum	94005	PIGS	OMIM:618143
HP:0002002	Deep philtrum	3572	IL6ST	OMIM:619750
HP:0002002	Deep philtrum	4683	NBN	OMIM:251260
HP:0002002	Deep philtrum	4683	NBN	ORPHA:647
HP:0002002	Deep philtrum	51126	NAA20	OMIM:619717
HP:0002002	Deep philtrum	6885	MAP3K7	OMIM:617137
HP:0002002	Deep philtrum	26053	AUTS2	OMIM:615834
HP:0002002	Deep philtrum	673	BRAF	OMIM:115150
HP:0002002	Deep philtrum	55627	SMPD4	OMIM:618622
HP:0002002	Deep philtrum	1788	DNMT3A	OMIM:615879
HP:0002002	Deep philtrum	1788	DNMT3A	ORPHA:404443
HP:0002002	Deep philtrum	8818	DPM2	ORPHA:329178
HP:0002002	Deep philtrum	4897	NRCAM	OMIM:619833
HP:0002002	Deep philtrum	9968	MED12	OMIM:309520
HP:0002002	Deep philtrum	2131	EXT1	ORPHA:502
HP:0002002	Deep philtrum	7227	TRPS1	ORPHA:502
HP:0002002	Deep philtrum	7227	TRPS1	OMIM:190350
HP:0002002	Deep philtrum	55209	SETD5	ORPHA:404440
HP:0002002	Deep philtrum	7707	ZNF148	OMIM:617260
HP:0002002	Deep philtrum	4893	NRAS	OMIM:137550
HP:0002002	Deep philtrum	3265	HRAS	OMIM:137550
HP:0002002	Deep philtrum	3020	H3-3A	OMIM:619720
HP:0002002	Deep philtrum	1806	DPYD	ORPHA:1675
HP:0002002	Deep philtrum	526	ATP6V1B2	OMIM:616455
HP:0002002	Deep philtrum	5500	PPP1CB	OMIM:617506
HP:0002002	Deep philtrum	5500	PPP1CB	ORPHA:2701
HP:0002002	Deep philtrum	64093	SMOC1	OMIM:206920
HP:0002002	Deep philtrum	9915	ARNT2	OMIM:615926
HP:0002002	Deep philtrum	388015	RTL1	ORPHA:96334
HP:0002002	Deep philtrum	8788	DLK1	ORPHA:96334
HP:0002002	Deep philtrum	55384	MEG3	ORPHA:96334
HP:0002002	Deep philtrum	6925	TCF4	OMIM:610954
HP:0002002	Deep philtrum	4952	OCRL	ORPHA:534
HP:0002002	Deep philtrum	57231	SNX14	ORPHA:397709
HP:0002002	Deep philtrum	55343	SLC35C1	ORPHA:99843
HP:0002002	Deep philtrum	4626	MYH8	OMIM:158300
HP:0002002	Deep philtrum	4256	MGP	OMIM:245150
HP:0002002	Deep philtrum	8260	NAA10	OMIM:300855
HP:0002002	Deep philtrum	8481	OFD1	OMIM:300804
HP:0002002	Deep philtrum	114034	TOE1	OMIM:614969
HP:0002002	Deep philtrum	3339	HSPG2	OMIM:255800
HP:0002002	Deep philtrum	22856	CHSY1	OMIM:605282
HP:0002002	Deep philtrum	64324	NSD1	ORPHA:3447
HP:0002002	Deep philtrum	8726	EED	ORPHA:3447
HP:0002002	Deep philtrum	23512	SUZ12	ORPHA:3447
HP:0002002	Deep philtrum	2146	EZH2	ORPHA:3447
HP:0002002	Deep philtrum	7546	ZIC2	OMIM:609637
HP:0002002	Deep philtrum	6792	CDKL5	ORPHA:505652
HP:0002002	Deep philtrum	1387	CREBBP	OMIM:618332
HP:0002002	Deep philtrum	6261	RYR1	OMIM:619542
HP:0002002	Deep philtrum	2033	EP300	OMIM:618333
HP:0002002	Deep philtrum	3832	KIF11	OMIM:152950
HP:0002002	Deep philtrum	5087	PBX1	OMIM:617641
HP:0002002	Deep philtrum	5567	PRKACB	OMIM:619143
HP:0002002	Deep philtrum	26173	INTS1	OMIM:618571
HP:0002002	Deep philtrum	867	CBL	OMIM:613563
HP:0002002	Deep philtrum	8036	SHOC2	ORPHA:2701
HP:0002002	Deep philtrum	51025	PAM16	OMIM:613320
HP:0002002	Deep philtrum	4858	NOVA2	OMIM:618859
HP:0002002	Deep philtrum	7020	TFAP2A	ORPHA:1297
HP:0002002	Deep philtrum	2783	GNB2	OMIM:619503
HP:0002002	Deep philtrum	7319	UBE2A	ORPHA:163956
HP:0002002	Deep philtrum	196528	ARID2	OMIM:617808
HP:0002002	Deep philtrum	9343	EFTUD2	OMIM:610536
HP:0002002	Deep philtrum	2200	FBN1	OMIM:102370
HP:0002002	Deep philtrum	6888	TALDO1	OMIM:606003
HP:0002002	Deep philtrum	3720	JARID2	OMIM:620098
HP:0002002	Deep philtrum	5813	PURA	ORPHA:314655
HP:0002003	Large forehead	9949	AMMECR1	OMIM:300990
HP:0002003	Large forehead	90161	HS6ST2	OMIM:301025
HP:0002003	Large forehead	55217	TMLHE	OMIM:300872
HP:0002003	Large forehead	57551	TAOK1	OMIM:619575
HP:0002003	Large forehead	55898	UNC45A	OMIM:619377
HP:0002003	Large forehead	54941	RNF125	OMIM:616260
HP:0002003	Large forehead	2332	FMR1	ORPHA:908
HP:0002003	Large forehead	2332	FMR1	OMIM:300624
HP:0002003	Large forehead	114034	TOE1	OMIM:614969
HP:0002003	Large forehead	5457	POU4F1	ORPHA:314647
HP:0002003	Large forehead	23261	CAMTA1	ORPHA:314647
HP:0002003	Large forehead	23261	CAMTA1	OMIM:614756
HP:0002003	Large forehead	8405	SPOP	OMIM:618829
HP:0002003	Large forehead	84570	COL25A1	ORPHA:91411
HP:0002003	Large forehead	79776	ZFHX4	ORPHA:91411
HP:0002003	Large forehead	285362	SUMF1	OMIM:272200
HP:0002003	Large forehead	2316	FLNA	OMIM:300321
HP:0002003	Large forehead	221496	LEMD2	OMIM:619322
HP:0002003	Large forehead	4212	MEIS2	OMIM:600987
HP:0002003	Large forehead	92335	STRADA	OMIM:611087
HP:0002003	Large forehead	5144	PDE4D	ORPHA:439822
HP:0002003	Large forehead	4010	LMX1B	ORPHA:495818
HP:0002003	Large forehead	6812	STXBP1	ORPHA:495818
HP:0002003	Large forehead	65082	VPS33A	OMIM:617303
HP:0002003	Large forehead	4953	ODC1	ORPHA:544488
HP:0002003	Large forehead	2783	GNB2	OMIM:619503
HP:0002003	Large forehead	196528	ARID2	OMIM:617808
HP:0002003	Large forehead	5728	PTEN	ORPHA:79076
HP:0002003	Large forehead	657	BMPR1A	ORPHA:79076
HP:0002003	Large forehead	6714	SRC	OMIM:616937
HP:0001999	Abnormal facial shape	2690	GHR	OMIM:262500
HP:0001999	Abnormal facial shape	1663	DDX11	OMIM:613398
HP:0001999	Abnormal facial shape	22907	DHX30	OMIM:617804
HP:0001999	Abnormal facial shape	6328	SCN3A	OMIM:617935
HP:0001999	Abnormal facial shape	10716	TBR1	ORPHA:1617
HP:0001999	Abnormal facial shape	9382	COG1	OMIM:611209
HP:0001999	Abnormal facial shape	6535	SLC6A8	OMIM:300352
HP:0001999	Abnormal facial shape	26235	FBXL4	OMIM:615471
HP:0001999	Abnormal facial shape	2138	EYA1	OMIM:113650
HP:0001999	Abnormal facial shape	2138	EYA1	OMIM:166780
HP:0001999	Abnormal facial shape	6495	SIX1	OMIM:113650
HP:0001999	Abnormal facial shape	23314	SATB2	ORPHA:251028
HP:0001999	Abnormal facial shape	92335	STRADA	ORPHA:500533
HP:0001999	Abnormal facial shape	538	ATP7A	OMIM:304150
HP:0001999	Abnormal facial shape	50814	NSDHL	ORPHA:251383
HP:0001999	Abnormal facial shape	50814	NSDHL	OMIM:300831
HP:0001999	Abnormal facial shape	10084	PQBP1	ORPHA:93950
HP:0001999	Abnormal facial shape	10084	PQBP1	ORPHA:93945
HP:0001999	Abnormal facial shape	10084	PQBP1	ORPHA:93947
HP:0001999	Abnormal facial shape	10084	PQBP1	OMIM:309500
HP:0001999	Abnormal facial shape	10479	SLC9A6	OMIM:300243
HP:0001999	Abnormal facial shape	10479	SLC9A6	ORPHA:85278
HP:0001999	Abnormal facial shape	58	ACTA1	ORPHA:171436
HP:0001999	Abnormal facial shape	58	ACTA1	ORPHA:171439
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:171436
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:1147
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:171439
HP:0001999	Abnormal facial shape	4703	NEB	ORPHA:171436
HP:0001999	Abnormal facial shape	4703	NEB	ORPHA:171439
HP:0001999	Abnormal facial shape	10324	KLHL41	ORPHA:171436
HP:0001999	Abnormal facial shape	10324	KLHL41	ORPHA:171439
HP:0001999	Abnormal facial shape	56203	LMOD3	ORPHA:171436
HP:0001999	Abnormal facial shape	1073	CFL2	ORPHA:171436
HP:0001999	Abnormal facial shape	89910	UBE3B	OMIM:244450
HP:0001999	Abnormal facial shape	89910	UBE3B	ORPHA:2707
HP:0001999	Abnormal facial shape	10525	HYOU1	OMIM:233600
HP:0001999	Abnormal facial shape	9723	SEMA3E	ORPHA:138
HP:0001999	Abnormal facial shape	51114	ZDHHC9	ORPHA:776
HP:0001999	Abnormal facial shape	65109	UPF3B	ORPHA:776
HP:0001999	Abnormal facial shape	65109	UPF3B	OMIM:300676
HP:0001999	Abnormal facial shape	25778	DSTYK	OMIM:270750
HP:0001999	Abnormal facial shape	4810	NHS	OMIM:302350
HP:0001999	Abnormal facial shape	7102	TSPAN7	OMIM:300210
HP:0001999	Abnormal facial shape	51132	RLIM	OMIM:300978
HP:0001999	Abnormal facial shape	9401	RECQL4	ORPHA:1225
HP:0001999	Abnormal facial shape	7170	TPM3	OMIM:609284
HP:0001999	Abnormal facial shape	7170	TPM3	OMIM:255310
HP:0001999	Abnormal facial shape	7170	TPM3	ORPHA:171439
HP:0001999	Abnormal facial shape	54880	BCOR	ORPHA:2712
HP:0001999	Abnormal facial shape	54880	BCOR	OMIM:300166
HP:0001999	Abnormal facial shape	9241	NOG	OMIM:186500
HP:0001999	Abnormal facial shape	4854	NOTCH3	ORPHA:2789
HP:0001999	Abnormal facial shape	25942	SIN3A	OMIM:613406
HP:0001999	Abnormal facial shape	54888	NSUN2	ORPHA:235
HP:0001999	Abnormal facial shape	54888	NSUN2	OMIM:611091
HP:0001999	Abnormal facial shape	6611	SMS	ORPHA:3063
HP:0001999	Abnormal facial shape	55768	NGLY1	OMIM:615273
HP:0001999	Abnormal facial shape	10367	MICU1	OMIM:615673
HP:0001999	Abnormal facial shape	80152	CENPT	OMIM:618702
HP:0001999	Abnormal facial shape	6899	TBX1	ORPHA:1727
HP:0001999	Abnormal facial shape	4784	NFIX	ORPHA:420179
HP:0001999	Abnormal facial shape	4784	NFIX	OMIM:614753
HP:0001999	Abnormal facial shape	4534	MTM1	OMIM:310400
HP:0001999	Abnormal facial shape	8085	KMT2D	OMIM:620186
HP:0001999	Abnormal facial shape	80781	COL18A1	OMIM:267750
HP:0001999	Abnormal facial shape	63932	STEEP1	OMIM:301013
HP:0001999	Abnormal facial shape	10293	TRAIP	OMIM:616777
HP:0001999	Abnormal facial shape	10293	TRAIP	ORPHA:808
HP:0001999	Abnormal facial shape	641	BLM	OMIM:210900
HP:0001999	Abnormal facial shape	641	BLM	ORPHA:125
HP:0001999	Abnormal facial shape	7140	TNNT3	ORPHA:1147
HP:0001999	Abnormal facial shape	259232	NALCN	ORPHA:1147
HP:0001999	Abnormal facial shape	7136	TNNI2	ORPHA:1147
HP:0001999	Abnormal facial shape	84665	MYPN	ORPHA:171439
HP:0001999	Abnormal facial shape	390594	KBTBD13	ORPHA:171439
HP:0001999	Abnormal facial shape	545	ATR	ORPHA:808
HP:0001999	Abnormal facial shape	5116	PCNT	ORPHA:808
HP:0001999	Abnormal facial shape	5932	RBBP8	ORPHA:808
HP:0001999	Abnormal facial shape	79902	NUP85	ORPHA:808
HP:0001999	Abnormal facial shape	84126	ATRIP	ORPHA:808
HP:0001999	Abnormal facial shape	55835	CENPJ	ORPHA:808
HP:0001999	Abnormal facial shape	22995	CEP152	ORPHA:808
HP:0001999	Abnormal facial shape	10733	PLK4	ORPHA:808
HP:0001999	Abnormal facial shape	6261	RYR1	ORPHA:98905
HP:0001999	Abnormal facial shape	2072	ERCC4	OMIM:610965
HP:0001999	Abnormal facial shape	6567	SLC16A2	ORPHA:59
HP:0001999	Abnormal facial shape	5087	PBX1	OMIM:617641
HP:0001999	Abnormal facial shape	1140	CHRNB1	OMIM:616313
HP:0001999	Abnormal facial shape	10382	TUBB4A	OMIM:128101
HP:0001999	Abnormal facial shape	2673	GFPT1	OMIM:608931
HP:0001999	Abnormal facial shape	1145	CHRNE	OMIM:608931
HP:0001999	Abnormal facial shape	11253	MAN1B1	ORPHA:397941
HP:0001999	Abnormal facial shape	11253	MAN1B1	OMIM:614202
HP:0001999	Abnormal facial shape	324	APC	ORPHA:261584
HP:0001999	Abnormal facial shape	9853	RUSC2	OMIM:617773
HP:0001999	Abnormal facial shape	5913	RAPSN	OMIM:616326
HP:0001999	Abnormal facial shape	91801	ALKBH8	OMIM:618504
HP:0001999	Abnormal facial shape	3703	STT3A	OMIM:619714
HP:0001999	Abnormal facial shape	5457	POU4F1	ORPHA:314647
HP:0001999	Abnormal facial shape	23261	CAMTA1	ORPHA:314647
HP:0001999	Abnormal facial shape	23261	CAMTA1	OMIM:614756
HP:0001999	Abnormal facial shape	1161	ERCC8	ORPHA:90321
HP:0001999	Abnormal facial shape	1161	ERCC8	ORPHA:90322
HP:0001999	Abnormal facial shape	2074	ERCC6	ORPHA:90321
HP:0001999	Abnormal facial shape	2074	ERCC6	ORPHA:90322
HP:0001999	Abnormal facial shape	2067	ERCC1	ORPHA:90322
HP:0001999	Abnormal facial shape	4983	OPHN1	OMIM:300486
HP:0001999	Abnormal facial shape	23118	TAB2	ORPHA:228410
HP:0001999	Abnormal facial shape	9578	CDC42BPB	OMIM:619841
HP:0001999	Abnormal facial shape	613	BCR	ORPHA:261330
HP:0001999	Abnormal facial shape	1399	CRKL	ORPHA:261330
HP:0001999	Abnormal facial shape	283489	CHAMP1	OMIM:616579
HP:0001999	Abnormal facial shape	10026	PIGK	OMIM:618879
HP:0001999	Abnormal facial shape	23322	RPGRIP1L	ORPHA:220497
HP:0001999	Abnormal facial shape	23322	RPGRIP1L	ORPHA:1454
HP:0001999	Abnormal facial shape	4867	NPHP1	ORPHA:220497
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:220497
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:475
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:2318
HP:0001999	Abnormal facial shape	54806	AHI1	ORPHA:220493
HP:0001999	Abnormal facial shape	54806	AHI1	ORPHA:475
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:220493
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:475
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:1454
HP:0001999	Abnormal facial shape	54903	MKS1	ORPHA:220493
HP:0001999	Abnormal facial shape	54903	MKS1	ORPHA:475
HP:0001999	Abnormal facial shape	95681	CEP41	ORPHA:220493
HP:0001999	Abnormal facial shape	95681	CEP41	ORPHA:475
HP:0001999	Abnormal facial shape	1146	CHRNG	OMIM:265000
HP:0001999	Abnormal facial shape	1146	CHRNG	ORPHA:2990
HP:0001999	Abnormal facial shape	57589	RIC1	OMIM:618761
HP:0001999	Abnormal facial shape	2590	GALNT2	OMIM:618885
HP:0001999	Abnormal facial shape	284058	KANSL1	ORPHA:363958
HP:0001999	Abnormal facial shape	284058	KANSL1	ORPHA:363965
HP:0001999	Abnormal facial shape	284058	KANSL1	OMIM:610443
HP:0001999	Abnormal facial shape	55154	MSTO1	OMIM:617675
HP:0001999	Abnormal facial shape	55154	MSTO1	ORPHA:502423
HP:0001999	Abnormal facial shape	80204	FBXO11	OMIM:618089
HP:0001999	Abnormal facial shape	274	BIN1	OMIM:255200
HP:0001999	Abnormal facial shape	274	BIN1	ORPHA:169186
HP:0001999	Abnormal facial shape	222663	SCUBE3	OMIM:619184
HP:0001999	Abnormal facial shape	6872	TAF1	ORPHA:480907
HP:0001999	Abnormal facial shape	6872	TAF1	OMIM:300966
HP:0001999	Abnormal facial shape	57190	SELENON	ORPHA:2020
HP:0001999	Abnormal facial shape	4633	MYL2	ORPHA:2020
HP:0001999	Abnormal facial shape	3679	ITGA7	ORPHA:2020
HP:0001999	Abnormal facial shape	9200	HACD1	ORPHA:2020
HP:0001999	Abnormal facial shape	51776	MAP3K20	ORPHA:2020
HP:0001999	Abnormal facial shape	5813	PURA	ORPHA:438216
HP:0001999	Abnormal facial shape	4338	MOCS2	OMIM:252160
HP:0001999	Abnormal facial shape	79600	TCTN1	ORPHA:475
HP:0001999	Abnormal facial shape	79848	CSPP1	ORPHA:475
HP:0001999	Abnormal facial shape	51684	SUFU	ORPHA:475
HP:0001999	Abnormal facial shape	65250	CPLANE1	ORPHA:475
HP:0001999	Abnormal facial shape	65250	CPLANE1	ORPHA:2754
HP:0001999	Abnormal facial shape	200894	ARL13B	ORPHA:475
HP:0001999	Abnormal facial shape	9731	CEP104	ORPHA:475
HP:0001999	Abnormal facial shape	219844	HYLS1	ORPHA:475
HP:0001999	Abnormal facial shape	23247	KATNIP	ORPHA:475
HP:0001999	Abnormal facial shape	219854	TMEM218	ORPHA:475
HP:0001999	Abnormal facial shape	9786	KIAA0586	ORPHA:475
HP:0001999	Abnormal facial shape	79867	TCTN2	ORPHA:475
HP:0001999	Abnormal facial shape	80776	B9D2	ORPHA:475
HP:0001999	Abnormal facial shape	10464	PIBF1	ORPHA:475
HP:0001999	Abnormal facial shape	80210	ARMC9	ORPHA:475
HP:0001999	Abnormal facial shape	23116	TOGARAM1	ORPHA:475
HP:0001999	Abnormal facial shape	25776	CBY1	ORPHA:475
HP:0001999	Abnormal facial shape	27077	B9D1	ORPHA:475
HP:0001999	Abnormal facial shape	403	ARL3	ORPHA:475
HP:0001999	Abnormal facial shape	6445	SGCG	ORPHA:353
HP:0001999	Abnormal facial shape	253738	EBF3	OMIM:617330
HP:0001999	Abnormal facial shape	1182	CLCN3	OMIM:619512
HP:0001999	Abnormal facial shape	51633	OTUD6B	OMIM:617452
HP:0001999	Abnormal facial shape	51633	OTUD6B	ORPHA:505237
HP:0001999	Abnormal facial shape	51692	CPSF3	OMIM:619876
HP:0001999	Abnormal facial shape	81031	SLC2A10	ORPHA:3342
HP:0001999	Abnormal facial shape	81031	SLC2A10	OMIM:208050
HP:0001999	Abnormal facial shape	6134	RPL10	ORPHA:459070
HP:0001999	Abnormal facial shape	23345	SYNE1	ORPHA:319332
HP:0001999	Abnormal facial shape	55719	SLF2	OMIM:620184
HP:0001999	Abnormal facial shape	23137	SMC5	OMIM:620185
HP:0001999	Abnormal facial shape	2248	FGF3	OMIM:610706
HP:0001999	Abnormal facial shape	2248	FGF3	ORPHA:2791
HP:0001999	Abnormal facial shape	2248	FGF3	ORPHA:90024
HP:0001999	Abnormal facial shape	55210	ATAD3A	ORPHA:496790
HP:0001999	Abnormal facial shape	55210	ATAD3A	OMIM:617183
HP:0001999	Abnormal facial shape	54828	BCAS3	OMIM:619641
HP:0001999	Abnormal facial shape	56098	PCDHGC4	OMIM:619880
HP:0001999	Abnormal facial shape	4256	MGP	ORPHA:85202
HP:0001999	Abnormal facial shape	4256	MGP	OMIM:245150
HP:0001999	Abnormal facial shape	6942	TCF20	OMIM:618430
HP:0001999	Abnormal facial shape	200424	TET3	OMIM:618798
HP:0001999	Abnormal facial shape	51244	CCDC174	OMIM:616816
HP:0001999	Abnormal facial shape	3187	HNRNPH1	OMIM:620083
HP:0001999	Abnormal facial shape	5373	PMM2	ORPHA:79318
HP:0001999	Abnormal facial shape	9342	SNAP29	OMIM:609528
HP:0001999	Abnormal facial shape	9342	SNAP29	ORPHA:66631
HP:0001999	Abnormal facial shape	254065	BRWD3	OMIM:300659
HP:0001999	Abnormal facial shape	7994	KAT6A	OMIM:616268
HP:0001999	Abnormal facial shape	4088	SMAD3	OMIM:613795
HP:0001999	Abnormal facial shape	4088	SMAD3	ORPHA:284984
HP:0001999	Abnormal facial shape	4087	SMAD2	OMIM:619656
HP:0001999	Abnormal facial shape	4087	SMAD2	OMIM:619657
HP:0001999	Abnormal facial shape	7476	WNT7A	OMIM:276820
HP:0001999	Abnormal facial shape	84317	CCDC115	OMIM:616828
HP:0001999	Abnormal facial shape	79087	ALG12	ORPHA:79324
HP:0001999	Abnormal facial shape	171023	ASXL1	OMIM:605039
HP:0001999	Abnormal facial shape	10533	ATG7	OMIM:619422
HP:0001999	Abnormal facial shape	1523	CUX1	OMIM:618330
HP:0001999	Abnormal facial shape	4212	MEIS2	ORPHA:261190
HP:0001999	Abnormal facial shape	10075	HUWE1	OMIM:309590
HP:0001999	Abnormal facial shape	10290	SPEG	ORPHA:169186
HP:0001999	Abnormal facial shape	7273	TTN	ORPHA:169186
HP:0001999	Abnormal facial shape	8925	HERC1	OMIM:617011
HP:0001999	Abnormal facial shape	8925	HERC1	ORPHA:457359
HP:0001999	Abnormal facial shape	79912	PYROXD1	OMIM:617258
HP:0001999	Abnormal facial shape	128869	PIGU	OMIM:618590
HP:0001999	Abnormal facial shape	113179	ADAT3	ORPHA:363528
HP:0001999	Abnormal facial shape	4952	OCRL	ORPHA:534
HP:0001999	Abnormal facial shape	84679	SLC9A7	OMIM:301024
HP:0001999	Abnormal facial shape	8831	SYNGAP1	ORPHA:544254
HP:0001999	Abnormal facial shape	1312	COMT	ORPHA:567
HP:0001999	Abnormal facial shape	221037	JMJD1C	ORPHA:567
HP:0001999	Abnormal facial shape	2812	GP1BB	ORPHA:567
HP:0001999	Abnormal facial shape	6239	RREB1	ORPHA:567
HP:0001999	Abnormal facial shape	7290	HIRA	ORPHA:567
HP:0001999	Abnormal facial shape	9632	SEC24C	ORPHA:567
HP:0001999	Abnormal facial shape	7353	UFD1	ORPHA:567
HP:0001999	Abnormal facial shape	421	ARVCF	ORPHA:567
HP:0001999	Abnormal facial shape	79583	TMEM231	ORPHA:2318
HP:0001999	Abnormal facial shape	51524	TMEM138	ORPHA:2318
HP:0001999	Abnormal facial shape	23090	ZNF423	ORPHA:2318
HP:0001999	Abnormal facial shape	80184	CEP290	ORPHA:2318
HP:0001999	Abnormal facial shape	51259	TMEM216	ORPHA:2318
HP:0001999	Abnormal facial shape	51259	TMEM216	ORPHA:2754
HP:0001999	Abnormal facial shape	57545	CC2D2A	ORPHA:2318
HP:0001999	Abnormal facial shape	57545	CC2D2A	ORPHA:1454
HP:0001999	Abnormal facial shape	444	ASPH	OMIM:601552
HP:0001999	Abnormal facial shape	7703	PCGF2	OMIM:618371
HP:0001999	Abnormal facial shape	5422	POLA1	OMIM:301030
HP:0001999	Abnormal facial shape	22808	MRAS	OMIM:618499
HP:0001999	Abnormal facial shape	79576	NKAP	OMIM:301039
HP:0001999	Abnormal facial shape	116442	RAB39B	OMIM:300271
HP:0001999	Abnormal facial shape	9757	KMT2B	ORPHA:589618
HP:0001999	Abnormal facial shape	10847	SRCAP	OMIM:619595
HP:0001999	Abnormal facial shape	4337	MOCS1	OMIM:252150
HP:0001999	Abnormal facial shape	51002	TPRKB	OMIM:617731
HP:0001999	Abnormal facial shape	4796	TONSL	ORPHA:93357
HP:0001999	Abnormal facial shape	51305	KCNK9	OMIM:612292
HP:0001999	Abnormal facial shape	4841	NONO	OMIM:300967
HP:0001999	Abnormal facial shape	4841	NONO	ORPHA:466791
HP:0001999	Abnormal facial shape	5058	PAK1	OMIM:618158
HP:0001999	Abnormal facial shape	91875	TTC5	OMIM:619244
HP:0001999	Abnormal facial shape	9702	CEP57	OMIM:614114
HP:0001999	Abnormal facial shape	1654	DDX3X	OMIM:300958
HP:0001999	Abnormal facial shape	60482	SLC5A7	ORPHA:98914
HP:0001999	Abnormal facial shape	4649	MYO9A	ORPHA:98914
HP:0001999	Abnormal facial shape	1305	COL13A1	ORPHA:98914
HP:0001999	Abnormal facial shape	1103	CHAT	ORPHA:98914
HP:0001999	Abnormal facial shape	6576	SLC25A1	ORPHA:98914
HP:0001999	Abnormal facial shape	6843	VAMP1	ORPHA:98914
HP:0001999	Abnormal facial shape	375790	AGRN	ORPHA:98914
HP:0001999	Abnormal facial shape	127833	SYT2	ORPHA:98914
HP:0001999	Abnormal facial shape	6572	SLC18A3	ORPHA:98914
HP:0001999	Abnormal facial shape	6616	SNAP25	ORPHA:98914
HP:0001999	Abnormal facial shape	118924	FRA10AC1	OMIM:620113
HP:0001999	Abnormal facial shape	113246	C12orf57	OMIM:218340
HP:0001999	Abnormal facial shape	55252	ASXL2	OMIM:617190
HP:0001999	Abnormal facial shape	5528	PPP2R5D	ORPHA:457279
HP:0001999	Abnormal facial shape	4781	NFIB	OMIM:618286
HP:0001999	Abnormal facial shape	23133	PHF8	ORPHA:85287
HP:0001999	Abnormal facial shape	23133	PHF8	OMIM:300263
HP:0001999	Abnormal facial shape	51594	NBAS	OMIM:614800
HP:0001999	Abnormal facial shape	25974	MMACHC	ORPHA:79282
HP:0001999	Abnormal facial shape	25974	MMACHC	OMIM:277400
HP:0001999	Abnormal facial shape	11043	MID2	OMIM:300928
HP:0001999	Abnormal facial shape	10210	TOPORS	ORPHA:2754
HP:0001999	Abnormal facial shape	26123	TCTN3	ORPHA:2754
HP:0001999	Abnormal facial shape	5147	PDE6D	ORPHA:2754
HP:0001999	Abnormal facial shape	8481	OFD1	ORPHA:2754
HP:0001999	Abnormal facial shape	317662	FAM149B1	ORPHA:2754
HP:0001999	Abnormal facial shape	374654	KIF7	ORPHA:2754
HP:0001999	Abnormal facial shape	1795	DOCK3	OMIM:618292
HP:0001999	Abnormal facial shape	11011	TLK2	OMIM:618050
HP:0001999	Abnormal facial shape	55553	SOX6	OMIM:618971
HP:0001999	Abnormal facial shape	5566	PRKACA	OMIM:619142
HP:0001999	Abnormal facial shape	2902	GRIN1	OMIM:614254
HP:0001999	Abnormal facial shape	5567	PRKACB	OMIM:619143
HP:0001999	Abnormal facial shape	25886	POC1A	OMIM:614813
HP:0001999	Abnormal facial shape	5052	PRDX1	OMIM:277400
HP:0001999	Abnormal facial shape	9990	SLC12A6	OMIM:218000
HP:0001999	Abnormal facial shape	2137	EXTL3	ORPHA:508533
HP:0001999	Abnormal facial shape	2137	EXTL3	OMIM:617425
HP:0001999	Abnormal facial shape	199857	ALG14	OMIM:619031
HP:0001999	Abnormal facial shape	8450	CUL4B	OMIM:300354
HP:0001999	Abnormal facial shape	9131	AIFM1	OMIM:300232
HP:0001999	Abnormal facial shape	27316	RBMX	OMIM:300238
HP:0001999	Abnormal facial shape	8367	H4C5	OMIM:619950
HP:0001999	Abnormal facial shape	51256	TBC1D7	OMIM:248000
HP:0001999	Abnormal facial shape	1183	CLCN4	OMIM:300114
HP:0001999	Abnormal facial shape	2132	EXT2	OMIM:616682
HP:0001999	Abnormal facial shape	23241	PACS2	OMIM:618067
HP:0001999	Abnormal facial shape	23135	KDM6B	OMIM:618505
HP:0001999	Abnormal facial shape	23556	PIGN	ORPHA:2059
HP:0001999	Abnormal facial shape	23556	PIGN	OMIM:614080
HP:0001999	Abnormal facial shape	23556	PIGN	ORPHA:280633
HP:0001999	Abnormal facial shape	55823	VPS11	ORPHA:466934
HP:0001999	Abnormal facial shape	673	BRAF	OMIM:115150
HP:0001999	Abnormal facial shape	673	BRAF	ORPHA:1340
HP:0001999	Abnormal facial shape	4897	NRCAM	OMIM:619833
HP:0001999	Abnormal facial shape	118429	ANTXR2	ORPHA:2176
HP:0001999	Abnormal facial shape	118429	ANTXR2	OMIM:228600
HP:0001999	Abnormal facial shape	2720	GLB1	OMIM:230600
HP:0001999	Abnormal facial shape	2720	GLB1	OMIM:253010
HP:0001999	Abnormal facial shape	2720	GLB1	OMIM:230650
HP:0001999	Abnormal facial shape	2720	GLB1	OMIM:230500
HP:0001999	Abnormal facial shape	55777	MBD5	ORPHA:228402
HP:0001999	Abnormal facial shape	1788	DNMT3A	ORPHA:404443
HP:0001999	Abnormal facial shape	4758	NEU1	OMIM:256550
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:93399
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:812
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:93400
HP:0001999	Abnormal facial shape	64324	NSD1	ORPHA:821
HP:0001999	Abnormal facial shape	29072	SETD2	ORPHA:821
HP:0001999	Abnormal facial shape	10297	APC2	ORPHA:821
HP:0001999	Abnormal facial shape	3190	HNRNPK	ORPHA:453504
HP:0001999	Abnormal facial shape	3190	HNRNPK	ORPHA:352665
HP:0001999	Abnormal facial shape	4125	MAN2B1	ORPHA:309282
HP:0001999	Abnormal facial shape	4125	MAN2B1	OMIM:248500
HP:0001999	Abnormal facial shape	114803	MYSM1	ORPHA:508542
HP:0001999	Abnormal facial shape	80232	WDR26	ORPHA:513456
HP:0001999	Abnormal facial shape	80232	WDR26	OMIM:617616
HP:0001999	Abnormal facial shape	170302	ARX	OMIM:300004
HP:0001999	Abnormal facial shape	170302	ARX	ORPHA:2508
HP:0001999	Abnormal facial shape	65993	MRPS34	OMIM:617664
HP:0001999	Abnormal facial shape	79639	TMEM53	OMIM:619727
HP:0001999	Abnormal facial shape	65082	VPS33A	OMIM:617303
HP:0001999	Abnormal facial shape	65082	VPS33A	ORPHA:505248
HP:0001999	Abnormal facial shape	526	ATP6V1B2	OMIM:616455
HP:0001999	Abnormal facial shape	526	ATP6V1B2	ORPHA:79500
HP:0001999	Abnormal facial shape	23431	AP4E1	OMIM:613744
HP:0001999	Abnormal facial shape	23431	AP4E1	ORPHA:280763
HP:0001999	Abnormal facial shape	3764	KCNJ8	ORPHA:1517
HP:0001999	Abnormal facial shape	10060	ABCC9	ORPHA:1517
HP:0001999	Abnormal facial shape	10060	ABCC9	OMIM:239850
HP:0001999	Abnormal facial shape	79158	GNPTAB	OMIM:252500
HP:0001999	Abnormal facial shape	79158	GNPTAB	OMIM:252600
HP:0001999	Abnormal facial shape	79158	GNPTAB	ORPHA:576
HP:0001999	Abnormal facial shape	5476	CTSA	OMIM:256540
HP:0001999	Abnormal facial shape	5476	CTSA	ORPHA:351
HP:0001999	Abnormal facial shape	50964	SOST	ORPHA:1513
HP:0001999	Abnormal facial shape	6197	RPS6KA3	OMIM:303600
HP:0001999	Abnormal facial shape	6197	RPS6KA3	ORPHA:192
HP:0001999	Abnormal facial shape	84572	GNPTG	OMIM:252605
HP:0001999	Abnormal facial shape	56992	KIF15	ORPHA:261323
HP:0001999	Abnormal facial shape	84992	PIGY	ORPHA:247262
HP:0001999	Abnormal facial shape	84720	PIGO	ORPHA:247262
HP:0001999	Abnormal facial shape	93210	PGAP3	ORPHA:247262
HP:0001999	Abnormal facial shape	284098	PIGW	ORPHA:247262
HP:0001999	Abnormal facial shape	284098	PIGW	OMIM:616025
HP:0001999	Abnormal facial shape	27315	PGAP2	ORPHA:247262
HP:0001999	Abnormal facial shape	55650	PIGV	ORPHA:247262
HP:0001999	Abnormal facial shape	9487	PIGL	ORPHA:247262
HP:0001999	Abnormal facial shape	9487	PIGL	OMIM:280000
HP:0001999	Abnormal facial shape	3074	HEXB	ORPHA:309155
HP:0001999	Abnormal facial shape	3074	HEXB	OMIM:268800
HP:0001999	Abnormal facial shape	57492	ARID1B	OMIM:135900
HP:0001999	Abnormal facial shape	57492	ARID1B	ORPHA:1465
HP:0001999	Abnormal facial shape	54453	RIN2	OMIM:613075
HP:0001999	Abnormal facial shape	54453	RIN2	ORPHA:217335
HP:0001999	Abnormal facial shape	23522	KAT6B	OMIM:606170
HP:0001999	Abnormal facial shape	23522	KAT6B	ORPHA:85201
HP:0001999	Abnormal facial shape	4853	NOTCH2	OMIM:102500
HP:0001999	Abnormal facial shape	4853	NOTCH2	ORPHA:955
HP:0001999	Abnormal facial shape	3423	IDS	ORPHA:217085
HP:0001999	Abnormal facial shape	3423	IDS	OMIM:309900
HP:0001999	Abnormal facial shape	3423	IDS	ORPHA:217093
HP:0001999	Abnormal facial shape	93627	TBCK	OMIM:616900
HP:0001999	Abnormal facial shape	93627	TBCK	ORPHA:488632
HP:0001999	Abnormal facial shape	8289	ARID1A	OMIM:614607
HP:0001999	Abnormal facial shape	8289	ARID1A	ORPHA:1465
HP:0001999	Abnormal facial shape	83550	GPR101	ORPHA:963
HP:0001999	Abnormal facial shape	83550	GPR101	OMIM:300942
HP:0001999	Abnormal facial shape	9049	AIP	ORPHA:963
HP:0001999	Abnormal facial shape	9049	AIP	OMIM:102200
HP:0001999	Abnormal facial shape	9049	AIP	ORPHA:99725
HP:0001999	Abnormal facial shape	4323	MMP14	OMIM:277950
HP:0001999	Abnormal facial shape	83480	PUS3	ORPHA:488627
HP:0001999	Abnormal facial shape	83480	PUS3	OMIM:617051
HP:0001999	Abnormal facial shape	8546	AP3B1	OMIM:608233
HP:0001999	Abnormal facial shape	6598	SMARCB1	OMIM:614608
HP:0001999	Abnormal facial shape	6598	SMARCB1	ORPHA:1465
HP:0001999	Abnormal facial shape	6597	SMARCA4	OMIM:614609
HP:0001999	Abnormal facial shape	6597	SMARCA4	ORPHA:1465
HP:0001999	Abnormal facial shape	4763	NF1	ORPHA:363700
HP:0001999	Abnormal facial shape	1193	CLIC2	ORPHA:324410
HP:0001999	Abnormal facial shape	23461	ABCA5	ORPHA:2026
HP:0001999	Abnormal facial shape	79813	EHMT1	OMIM:610253
HP:0001999	Abnormal facial shape	200734	SPRED2	OMIM:619745
HP:0001999	Abnormal facial shape	3782	KCNN3	OMIM:618658
HP:0001999	Abnormal facial shape	26040	SETBP1	OMIM:269150
HP:0001999	Abnormal facial shape	26040	SETBP1	ORPHA:798
HP:0001999	Abnormal facial shape	3265	HRAS	OMIM:218040
HP:0001999	Abnormal facial shape	3265	HRAS	ORPHA:3071
HP:0001999	Abnormal facial shape	9653	HS2ST1	OMIM:619194
HP:0001999	Abnormal facial shape	1267	CNP	OMIM:619071
HP:0001999	Abnormal facial shape	1280	COL2A1	OMIM:151210
HP:0001999	Abnormal facial shape	1280	COL2A1	ORPHA:94068
HP:0001999	Abnormal facial shape	1280	COL2A1	ORPHA:93346
HP:0001999	Abnormal facial shape	10717	AP4B1	OMIM:614066
HP:0001999	Abnormal facial shape	10717	AP4B1	ORPHA:280763
HP:0001999	Abnormal facial shape	11154	AP4S1	OMIM:614067
HP:0001999	Abnormal facial shape	11154	AP4S1	ORPHA:280763
HP:0001999	Abnormal facial shape	8905	AP1S2	ORPHA:85335
HP:0001999	Abnormal facial shape	8905	AP1S2	OMIM:304340
HP:0001999	Abnormal facial shape	3845	KRAS	OMIM:615278
HP:0001999	Abnormal facial shape	3845	KRAS	ORPHA:1340
HP:0001999	Abnormal facial shape	27125	AFF4	OMIM:616368
HP:0001999	Abnormal facial shape	9255	AIMP1	OMIM:260600
HP:0001999	Abnormal facial shape	6804	STX1A	ORPHA:904
HP:0001999	Abnormal facial shape	7461	CLIP2	ORPHA:904
HP:0001999	Abnormal facial shape	84277	DNAJC30	ORPHA:904
HP:0001999	Abnormal facial shape	8468	FKBP6	ORPHA:904
HP:0001999	Abnormal facial shape	5982	RFC2	ORPHA:904
HP:0001999	Abnormal facial shape	2969	GTF2I	ORPHA:904
HP:0001999	Abnormal facial shape	3984	LIMK1	ORPHA:904
HP:0001999	Abnormal facial shape	9569	GTF2IRD1	ORPHA:904
HP:0001999	Abnormal facial shape	155382	VPS37D	ORPHA:904
HP:0001999	Abnormal facial shape	155368	METTL27	ORPHA:904
HP:0001999	Abnormal facial shape	114049	BUD23	ORPHA:904
HP:0001999	Abnormal facial shape	7458	EIF4H	ORPHA:904
HP:0001999	Abnormal facial shape	84163	GTF2IRD2	ORPHA:904
HP:0001999	Abnormal facial shape	9275	BCL7B	ORPHA:904
HP:0001999	Abnormal facial shape	26608	TBL2	ORPHA:904
HP:0001999	Abnormal facial shape	653361	NCF1	ORPHA:904
HP:0001999	Abnormal facial shape	135886	TMEM270	ORPHA:904
HP:0001999	Abnormal facial shape	51085	MLXIPL	ORPHA:904
HP:0001999	Abnormal facial shape	9031	BAZ1B	ORPHA:904
HP:0001999	Abnormal facial shape	2006	ELN	ORPHA:904
HP:0001999	Abnormal facial shape	9091	PIGQ	OMIM:618548
HP:0001999	Abnormal facial shape	2517	FUCA1	ORPHA:349
HP:0001999	Abnormal facial shape	2517	FUCA1	OMIM:230000
HP:0001999	Abnormal facial shape	285362	SUMF1	OMIM:272200
HP:0001999	Abnormal facial shape	285362	SUMF1	ORPHA:585
HP:0001999	Abnormal facial shape	55343	SLC35C1	OMIM:266265
HP:0001999	Abnormal facial shape	55343	SLC35C1	ORPHA:99843
HP:0001999	Abnormal facial shape	2990	GUSB	ORPHA:584
HP:0001999	Abnormal facial shape	2990	GUSB	OMIM:253220
HP:0001999	Abnormal facial shape	8314	BAP1	OMIM:619762
HP:0001999	Abnormal facial shape	6774	STAT3	OMIM:147060
HP:0001999	Abnormal facial shape	5594	MAPK1	OMIM:619087
HP:0001999	Abnormal facial shape	6605	SMARCE1	OMIM:616938
HP:0001999	Abnormal facial shape	6605	SMARCE1	ORPHA:1465
HP:0001999	Abnormal facial shape	4221	MEN1	ORPHA:99725
HP:0001999	Abnormal facial shape	6925	TCF4	OMIM:610954
HP:0001999	Abnormal facial shape	6925	TCF4	ORPHA:2896
HP:0001999	Abnormal facial shape	57192	MCOLN1	ORPHA:578
HP:0001999	Abnormal facial shape	10430	TMEM147	OMIM:620075
HP:0001999	Abnormal facial shape	7030	TFE3	OMIM:301066
HP:0001999	Abnormal facial shape	2239	GPC4	ORPHA:373
HP:0001999	Abnormal facial shape	2239	GPC4	OMIM:312870
HP:0001999	Abnormal facial shape	2719	GPC3	ORPHA:373
HP:0001999	Abnormal facial shape	2719	GPC3	OMIM:312870
HP:0001999	Abnormal facial shape	7355	SLC35A2	OMIM:300896
HP:0001999	Abnormal facial shape	9968	MED12	OMIM:300895
HP:0001999	Abnormal facial shape	9968	MED12	ORPHA:293707
HP:0001999	Abnormal facial shape	1028	CDKN1C	OMIM:130650
HP:0001999	Abnormal facial shape	10984	KCNQ1OT1	OMIM:130650
HP:0001999	Abnormal facial shape	3481	IGF2	OMIM:130650
HP:0001999	Abnormal facial shape	3784	KCNQ1	OMIM:130650
HP:0001999	Abnormal facial shape	5286	PIK3C2A	OMIM:618440
HP:0001999	Abnormal facial shape	5286	PIK3C2A	ORPHA:557003
HP:0001999	Abnormal facial shape	546	ATRX	OMIM:309580
HP:0001999	Abnormal facial shape	26047	CNTNAP2	OMIM:610042
HP:0001999	Abnormal facial shape	374969	SVBP	OMIM:618569
HP:0001999	Abnormal facial shape	6885	MAP3K7	ORPHA:1826
HP:0001999	Abnormal facial shape	79791	FBXO31	OMIM:615979
HP:0001999	Abnormal facial shape	84295	PHF6	ORPHA:127
HP:0001999	Abnormal facial shape	84295	PHF6	OMIM:301900
HP:0001999	Abnormal facial shape	4313	MMP2	OMIM:259600
HP:0001999	Abnormal facial shape	2697	GJA1	OMIM:218400
HP:0001999	Abnormal facial shape	51117	COQ4	OMIM:616276
HP:0001999	Abnormal facial shape	84188	FAR1	OMIM:616154
HP:0001999	Abnormal facial shape	4352	MPL	ORPHA:3319
HP:0001999	Abnormal facial shape	7066	THPO	ORPHA:3319
HP:0001999	Abnormal facial shape	196528	ARID2	OMIM:617808
HP:0001999	Abnormal facial shape	196528	ARID2	ORPHA:1465
HP:0001999	Abnormal facial shape	5277	PIGA	OMIM:301072
HP:0001999	Abnormal facial shape	5277	PIGA	OMIM:300868
HP:0001999	Abnormal facial shape	8260	NAA10	ORPHA:276432
HP:0001999	Abnormal facial shape	8260	NAA10	OMIM:300855
HP:0001999	Abnormal facial shape	54808	DYM	ORPHA:239
HP:0001999	Abnormal facial shape	54808	DYM	OMIM:223800
HP:0001999	Abnormal facial shape	9488	PIGB	OMIM:618580
HP:0001999	Abnormal facial shape	6448	SGSH	OMIM:252900
HP:0001999	Abnormal facial shape	23013	SPEN	OMIM:619312
HP:0001999	Abnormal facial shape	30000	TNPO2	OMIM:619556
HP:0001999	Abnormal facial shape	124997	WDR81	OMIM:610185
HP:0001999	Abnormal facial shape	411	ARSB	OMIM:253200
HP:0001999	Abnormal facial shape	55593	OTUD5	OMIM:301056
HP:0001999	Abnormal facial shape	26580	BSCL2	ORPHA:363400
HP:0001999	Abnormal facial shape	7707	ZNF148	OMIM:617260
HP:0001999	Abnormal facial shape	57465	TBC1D24	OMIM:220500
HP:0001999	Abnormal facial shape	57465	TBC1D24	ORPHA:79500
HP:0001999	Abnormal facial shape	23102	TBC1D2B	OMIM:619323
HP:0001999	Abnormal facial shape	79868	ALG13	OMIM:300884
HP:0001999	Abnormal facial shape	55784	MCTP2	ORPHA:1596
HP:0001999	Abnormal facial shape	9179	AP4M1	OMIM:612936
HP:0001999	Abnormal facial shape	9179	AP4M1	ORPHA:280763
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95720
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95713
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95712
HP:0001999	Abnormal facial shape	7253	TSHR	ORPHA:95720
HP:0001999	Abnormal facial shape	7253	TSHR	ORPHA:95713
HP:0001999	Abnormal facial shape	5172	SLC26A4	ORPHA:95720
HP:0001999	Abnormal facial shape	5172	SLC26A4	ORPHA:95713
HP:0001999	Abnormal facial shape	79068	FTO	OMIM:612938
HP:0001999	Abnormal facial shape	153642	ARSK	OMIM:619698
HP:0001999	Abnormal facial shape	4052	LTBP1	OMIM:619451
HP:0001999	Abnormal facial shape	63035	BCORL1	OMIM:301029
HP:0001999	Abnormal facial shape	3756	KCNH1	OMIM:135500
HP:0001999	Abnormal facial shape	3756	KCNH1	ORPHA:420561
HP:0001999	Abnormal facial shape	5530	PPP3CA	OMIM:617711
HP:0001999	Abnormal facial shape	6659	SOX4	ORPHA:1465
HP:0001999	Abnormal facial shape	5977	DPF2	ORPHA:1465
HP:0001999	Abnormal facial shape	5977	DPF2	OMIM:618027
HP:0001999	Abnormal facial shape	6601	SMARCC2	ORPHA:1465
HP:0001999	Abnormal facial shape	6602	SMARCD1	ORPHA:1465
HP:0001999	Abnormal facial shape	6664	SOX11	ORPHA:1465
HP:0001999	Abnormal facial shape	7080	NKX2-1	ORPHA:95713
HP:0001999	Abnormal facial shape	1482	NKX2-5	ORPHA:95713
HP:0001999	Abnormal facial shape	1482	NKX2-5	ORPHA:95712
HP:0001999	Abnormal facial shape	2304	FOXE1	ORPHA:95713
HP:0001999	Abnormal facial shape	1108	CHD4	OMIM:617159
HP:0001999	Abnormal facial shape	5604	MAP2K1	ORPHA:1340
HP:0001999	Abnormal facial shape	5605	MAP2K2	ORPHA:1340
HP:0001999	Abnormal facial shape	64131	XYLT1	OMIM:615777
HP:0001999	Abnormal facial shape	28956	LAMTOR2	ORPHA:90023
HP:0001999	Abnormal facial shape	28956	LAMTOR2	OMIM:610798
HP:0001999	Abnormal facial shape	2717	GLA	ORPHA:324
HP:0001999	Abnormal facial shape	3248	HPGD	ORPHA:2796
HP:0001999	Abnormal facial shape	3248	HPGD	OMIM:259100
HP:0001999	Abnormal facial shape	6578	SLCO2A1	ORPHA:2796
HP:0001999	Abnormal facial shape	80311	KLHL15	OMIM:300982
HP:0001999	Abnormal facial shape	23258	DENND5A	OMIM:617281
HP:0001999	Abnormal facial shape	26175	LYSET	OMIM:619345
HP:0001999	Abnormal facial shape	54681	P4HTM	OMIM:618493
HP:0001999	Abnormal facial shape	2332	FMR1	OMIM:300624
HP:0001999	Abnormal facial shape	54551	MAGEL2	OMIM:615547
HP:0001999	Abnormal facial shape	3643	INSR	OMIM:262190
HP:0001999	Abnormal facial shape	3643	INSR	ORPHA:769
HP:0001999	Abnormal facial shape	5281	PIGF	OMIM:619356
HP:0001999	Abnormal facial shape	57003	CCDC47	OMIM:618268
HP:0001999	Abnormal facial shape	94005	PIGS	OMIM:618143
HP:0001999	Abnormal facial shape	6711	SPTBN1	OMIM:619475
HP:0001999	Abnormal facial shape	2588	GALNS	OMIM:253000
HP:0001999	Abnormal facial shape	285590	SH3PXD2B	ORPHA:137834
HP:0001999	Abnormal facial shape	285590	SH3PXD2B	OMIM:249420
HP:0001999	Abnormal facial shape	374879	ZNF699	OMIM:619488
HP:0001999	Abnormal facial shape	57688	ZSWIM6	OMIM:617865
HP:0001999	Abnormal facial shape	2799	GNS	OMIM:252940
HP:0001999	Abnormal facial shape	153241	CEP120	OMIM:616300
HP:0001999	Abnormal facial shape	10020	GNE	OMIM:269921
HP:0001999	Abnormal facial shape	10020	GNE	ORPHA:3166
HP:0001999	Abnormal facial shape	26503	SLC17A5	OMIM:269920
HP:0001999	Abnormal facial shape	4668	NAGA	ORPHA:79280
HP:0001999	Abnormal facial shape	4668	NAGA	OMIM:609242
HP:0001999	Abnormal facial shape	54187	NANS	OMIM:610442
HP:0001999	Abnormal facial shape	138050	HGSNAT	OMIM:252930
HP:0001999	Abnormal facial shape	55901	THSD1	OMIM:620244
HP:0001999	Abnormal facial shape	71	ACTG1	ORPHA:2995
HP:0001999	Abnormal facial shape	60	ACTB	ORPHA:2995
HP:0001999	Abnormal facial shape	64802	NMNAT1	OMIM:619260
HP:0001999	Abnormal facial shape	129285	PPP1R21	OMIM:619383
HP:0001999	Abnormal facial shape	3897	L1CAM	ORPHA:2182
HP:0001999	Abnormal facial shape	672	BRCA1	OMIM:617883
HP:0001999	Abnormal facial shape	83452	RAB33B	OMIM:615222
HP:0001999	Abnormal facial shape	55331	ACER3	OMIM:617762
HP:0001999	Abnormal facial shape	9373	PLAA	OMIM:617527
HP:0001999	Abnormal facial shape	4669	NAGLU	OMIM:252920
HP:0001999	Abnormal facial shape	9759	HDAC4	OMIM:600430
HP:0001999	Abnormal facial shape	5727	PTCH1	OMIM:610828
HP:0001999	Abnormal facial shape	5727	PTCH1	OMIM:109400
HP:0001999	Abnormal facial shape	4921	DDR2	OMIM:271665
HP:0001999	Abnormal facial shape	79718	TBL1XR1	OMIM:602342
HP:0001999	Abnormal facial shape	7319	UBE2A	OMIM:300860
HP:0001999	Abnormal facial shape	7552	ZNF711	OMIM:300803
HP:0001999	Abnormal facial shape	57231	SNX14	OMIM:616354
HP:0001999	Abnormal facial shape	7043	TGFB3	OMIM:615582
HP:0001999	Abnormal facial shape	10743	RAI1	OMIM:182290
HP:0001999	Abnormal facial shape	221927	BRAT1	OMIM:618056
HP:0001999	Abnormal facial shape	5144	PDE4D	ORPHA:439822
HP:0001999	Abnormal facial shape	23394	ADNP	OMIM:615873
HP:0001999	Abnormal facial shape	175	AGA	OMIM:208400
HP:0001999	Abnormal facial shape	4774	NFIA	OMIM:613735
HP:0001999	Abnormal facial shape	3425	IDUA	OMIM:607016
HP:0001999	Abnormal facial shape	2317	FLNB	OMIM:272460
HP:0001999	Abnormal facial shape	2316	FLNA	OMIM:304120
HP:0001999	Abnormal facial shape	1759	DNM1	OMIM:620352
HP:0001999	Abnormal facial shape	2538	G6PC1	OMIM:232200
HP:0001999	Abnormal facial shape	8635	RNASET2	OMIM:612951
HP:0001999	Abnormal facial shape	6514	SLC2A2	ORPHA:2088
HP:0001999	Abnormal facial shape	54345	SOX18	OMIM:137940
HP:0001999	Abnormal facial shape	8626	TP63	OMIM:106260
HP:0001999	Abnormal facial shape	54084	TSPEAR	OMIM:618180
HP:0001999	Abnormal facial shape	1272	CNTN1	OMIM:612540
HP:0001999	Abnormal facial shape	8573	CASK	OMIM:300749
HP:0001999	Abnormal facial shape	55770	EXOC2	OMIM:619306
HP:0001999	Abnormal facial shape	8604	SLC25A12	OMIM:612949
HP:0001999	Abnormal facial shape	2245	FGD1	OMIM:305400
HP:0001999	Abnormal facial shape	2245	FGD1	ORPHA:915
HP:0001999	Abnormal facial shape	3376	IARS1	OMIM:617093
HP:0001999	Abnormal facial shape	3376	IARS1	ORPHA:541423
HP:0001999	Abnormal facial shape	8243	SMC1A	OMIM:301044
HP:0001999	Abnormal facial shape	1291	COL6A1	OMIM:254090
HP:0001999	Abnormal facial shape	1292	COL6A2	OMIM:254090
HP:0001999	Abnormal facial shape	1293	COL6A3	OMIM:254090
HP:0001999	Abnormal facial shape	104	ADARB1	OMIM:618862
HP:0001999	Abnormal facial shape	340533	NEXMIF	OMIM:300912
HP:0001999	Abnormal facial shape	9158	FIBP	ORPHA:500095
HP:0001999	Abnormal facial shape	9158	FIBP	OMIM:617107
HP:0001999	Abnormal facial shape	22856	CHSY1	ORPHA:363417
HP:0001999	Abnormal facial shape	100151683	RNU4ATAC	OMIM:210710
HP:0001999	Abnormal facial shape	29123	ANKRD11	ORPHA:2332
HP:0001999	Abnormal facial shape	29123	ANKRD11	OMIM:148050
HP:0001999	Abnormal facial shape	775	CACNA1C	OMIM:620029
HP:0001999	Abnormal facial shape	775	CACNA1C	OMIM:601005
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:219080
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:94089
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:612463
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:612462
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79443
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79444
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79445
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:103580
HP:0001999	Abnormal facial shape	5332	PLCB4	OMIM:614669
HP:0001999	Abnormal facial shape	145173	B3GLCT	ORPHA:709
HP:0001999	Abnormal facial shape	145173	B3GLCT	OMIM:261540
HP:0001999	Abnormal facial shape	8675	STX16	ORPHA:94089
HP:0001999	Abnormal facial shape	91147	TMEM67	OMIM:216360
HP:0001999	Abnormal facial shape	5575	PRKAR1B	OMIM:619680
HP:0001999	Abnormal facial shape	1062	CENPE	OMIM:616051
HP:0001999	Abnormal facial shape	23030	KDM4B	OMIM:619320
HP:0001999	Abnormal facial shape	55790	CSGALNACT1	OMIM:618870
HP:0001999	Abnormal facial shape	4010	LMX1B	ORPHA:495818
HP:0001999	Abnormal facial shape	6812	STXBP1	ORPHA:495818
HP:0001999	Abnormal facial shape	72	ACTG2	ORPHA:2604
HP:0001999	Abnormal facial shape	50940	PDE11A	OMIM:610475
HP:0001999	Abnormal facial shape	1363	CPE	OMIM:619326
HP:0001999	Abnormal facial shape	129563	DIS3L2	ORPHA:2849
HP:0001999	Abnormal facial shape	23384	SPECC1L	ORPHA:1519
HP:0001999	Abnormal facial shape	10472	ZBTB18	ORPHA:36367
HP:0001999	Abnormal facial shape	10472	ZBTB18	OMIM:612337
HP:0001999	Abnormal facial shape	2542	SLC37A4	ORPHA:79259
HP:0001999	Abnormal facial shape	64175	P3H1	OMIM:610915
HP:0001999	Abnormal facial shape	5934	RBL2	OMIM:619690
HP:0001999	Abnormal facial shape	6452	SH3BP2	OMIM:118400
HP:0001999	Abnormal facial shape	84068	SLC10A7	OMIM:618363
HP:0001999	Abnormal facial shape	5573	PRKAR1A	OMIM:610489
HP:0001999	Abnormal facial shape	5573	PRKAR1A	ORPHA:280651
HP:0001999	Abnormal facial shape	2200	FBN1	ORPHA:969
HP:0001999	Abnormal facial shape	2200	FBN1	OMIM:102370
HP:0001999	Abnormal facial shape	4054	LTBP3	ORPHA:969
HP:0001999	Abnormal facial shape	4054	LTBP3	OMIM:617809
HP:0001999	Abnormal facial shape	23389	MED13L	ORPHA:369891
HP:0001999	Abnormal facial shape	23389	MED13L	OMIM:616789
HP:0001999	Abnormal facial shape	8726	EED	OMIM:617561
HP:0001999	Abnormal facial shape	8726	EED	ORPHA:3447
HP:0001999	Abnormal facial shape	1501	CTNND2	ORPHA:281
HP:0001999	Abnormal facial shape	9037	SEMA5A	ORPHA:281
HP:0001999	Abnormal facial shape	23327	NEDD4L	OMIM:617201
HP:0001999	Abnormal facial shape	83696	TRAPPC9	ORPHA:352530
HP:0001999	Abnormal facial shape	2773	GNAI3	OMIM:602483
HP:0001999	Abnormal facial shape	7840	ALMS1	ORPHA:64
HP:0001999	Abnormal facial shape	9895	TECPR2	OMIM:615031
HP:0001999	Abnormal facial shape	9895	TECPR2	ORPHA:320385
HP:0001999	Abnormal facial shape	23512	SUZ12	OMIM:618786
HP:0001999	Abnormal facial shape	23512	SUZ12	ORPHA:3447
HP:0001999	Abnormal facial shape	149371	EXOC8	OMIM:619076
HP:0001999	Abnormal facial shape	1861	TOR1A	OMIM:618947
HP:0001999	Abnormal facial shape	79798	ARMC5	OMIM:615954
HP:0001999	Abnormal facial shape	9719	ADAMTSL2	OMIM:231050
HP:0001999	Abnormal facial shape	3675	ITGA3	OMIM:614748
HP:0001999	Abnormal facial shape	5728	PTEN	ORPHA:744
HP:0001999	Abnormal facial shape	207	AKT1	ORPHA:744
HP:0001999	Abnormal facial shape	4893	NRAS	OMIM:137550
HP:0001999	Abnormal facial shape	6182	MRPL12	OMIM:618951
HP:0001999	Abnormal facial shape	28957	MRPS28	OMIM:618958
HP:0001999	Abnormal facial shape	6901	TAFAZZIN	OMIM:302060
HP:0001999	Abnormal facial shape	93587	TRMT10A	ORPHA:391408
HP:0001999	Abnormal facial shape	84919	PPP1R15B	ORPHA:391408
HP:0001999	Abnormal facial shape	124583	CANT1	OMIM:251450
HP:0001999	Abnormal facial shape	23162	MAPK8IP3	OMIM:618443
HP:0001999	Abnormal facial shape	79989	IFT56	OMIM:619534
HP:0001999	Abnormal facial shape	55023	PHIP	OMIM:617991
HP:0001999	Abnormal facial shape	10491	CRTAP	OMIM:610682
HP:0001999	Abnormal facial shape	2146	EZH2	OMIM:277590
HP:0001999	Abnormal facial shape	2146	EZH2	ORPHA:3447
HP:0001999	Abnormal facial shape	1968	EIF2S3	ORPHA:85282
HP:0001999	Abnormal facial shape	9427	ECEL1	OMIM:615065
HP:0001999	Abnormal facial shape	3239	HOXD13	OMIM:113300
HP:0001999	Abnormal facial shape	2702	GJA5	OMIM:612474
HP:0001999	Abnormal facial shape	2703	GJA8	OMIM:612474
HP:0001999	Abnormal facial shape	51025	PAM16	OMIM:613320
HP:0001999	Abnormal facial shape	10801	SEPTIN9	ORPHA:2901
HP:0001999	Abnormal facial shape	10111	RAD50	OMIM:613078
HP:0001999	Abnormal facial shape	4000	LMNA	OMIM:248370
HP:0001999	Abnormal facial shape	10269	ZMPSTE24	OMIM:608612
HP:0001999	Abnormal facial shape	7486	WRN	OMIM:277700
HP:0001999	Abnormal facial shape	7518	XRCC4	ORPHA:99812
HP:0001999	Abnormal facial shape	3981	LIG4	ORPHA:99812
HP:0001999	Abnormal facial shape	80326	WNT10A	OMIM:224750
HP:0001999	Abnormal facial shape	80326	WNT10A	ORPHA:50944
HP:0001999	Abnormal facial shape	404672	GTF2H5	ORPHA:33364
HP:0001999	Abnormal facial shape	833	CARS1	ORPHA:33364
HP:0001999	Abnormal facial shape	2068	ERCC2	ORPHA:33364
HP:0001999	Abnormal facial shape	7737	RNF113A	ORPHA:33364
HP:0001999	Abnormal facial shape	136647	MPLKIP	ORPHA:33364
HP:0001999	Abnormal facial shape	6897	TARS1	ORPHA:33364
HP:0001999	Abnormal facial shape	2071	ERCC3	ORPHA:33364
HP:0001999	Abnormal facial shape	2961	GTF2E2	ORPHA:33364
HP:0001999	Abnormal facial shape	5424	POLD1	OMIM:615381
HP:0001999	Abnormal facial shape	79840	NHEJ1	ORPHA:169079
HP:0001999	Abnormal facial shape	22827	PUF60	ORPHA:508488
HP:0001999	Abnormal facial shape	22827	PUF60	OMIM:615583
HP:0001999	Abnormal facial shape	1387	CREBBP	OMIM:618332
HP:0001999	Abnormal facial shape	2033	EP300	OMIM:618333
HP:0001999	Abnormal facial shape	3977	LIFR	OMIM:601559
HP:0001999	Abnormal facial shape	23067	SETD1B	OMIM:619000
HP:0001999	Abnormal facial shape	10765	KDM5B	OMIM:618109
HP:0001999	Abnormal facial shape	92949	ADAMTSL1	ORPHA:521445
HP:0001999	Abnormal facial shape	55636	CHD7	OMIM:214800
HP:0001999	Abnormal facial shape	51322	WAC	ORPHA:466950
HP:0001999	Abnormal facial shape	55081	IFT57	OMIM:617927
HP:0001999	Abnormal facial shape	28962	OSTM1	OMIM:259720
HP:0001999	Abnormal facial shape	5290	PIK3CA	OMIM:612918
HP:0001999	Abnormal facial shape	5290	PIK3CA	ORPHA:60040
HP:0001999	Abnormal facial shape	1947	EFNB1	ORPHA:1520
HP:0001999	Abnormal facial shape	1947	EFNB1	OMIM:304110
HP:0001999	Abnormal facial shape	4038	LRP4	OMIM:614305
HP:0001999	Abnormal facial shape	6418	SET	OMIM:618106
HP:0001999	Abnormal facial shape	57167	SALL4	OMIM:607323
HP:0001999	Abnormal facial shape	57167	SALL4	ORPHA:233
HP:0001999	Abnormal facial shape	80144	FRAS1	OMIM:219000
HP:0001999	Abnormal facial shape	83479	DDX59	OMIM:174300
HP:0001999	Abnormal facial shape	23499	MACF1	ORPHA:572013
HP:0001999	Abnormal facial shape	387119	CEP85L	ORPHA:572013
HP:0001999	Abnormal facial shape	5075	PAX1	ORPHA:2792
HP:0001999	Abnormal facial shape	10459	MAD2L2	ORPHA:84
HP:0001999	Abnormal facial shape	7516	XRCC2	ORPHA:84
HP:0001999	Abnormal facial shape	29089	UBE2T	ORPHA:84
HP:0001999	Abnormal facial shape	675	BRCA2	ORPHA:84
HP:0001999	Abnormal facial shape	55120	FANCL	ORPHA:84
HP:0001999	Abnormal facial shape	2177	FANCD2	ORPHA:84
HP:0001999	Abnormal facial shape	2175	FANCA	ORPHA:84
HP:0001999	Abnormal facial shape	2187	FANCB	ORPHA:84
HP:0001999	Abnormal facial shape	2178	FANCE	ORPHA:84
HP:0001999	Abnormal facial shape	2188	FANCF	ORPHA:84
HP:0001999	Abnormal facial shape	2189	FANCG	ORPHA:84
HP:0001999	Abnormal facial shape	5888	RAD51	ORPHA:84
HP:0001999	Abnormal facial shape	5889	RAD51C	ORPHA:84
HP:0001999	Abnormal facial shape	55159	RFWD3	ORPHA:84
HP:0001999	Abnormal facial shape	83990	BRIP1	ORPHA:84
HP:0001999	Abnormal facial shape	57697	FANCM	ORPHA:84
HP:0001999	Abnormal facial shape	79728	PALB2	ORPHA:84
HP:0001999	Abnormal facial shape	84464	SLX4	ORPHA:84
HP:0001999	Abnormal facial shape	652	BMP4	OMIM:607932
HP:0001999	Abnormal facial shape	4915	NTRK2	OMIM:613886
HP:0001999	Abnormal facial shape	208	AKT2	OMIM:240900
HP:0001999	Abnormal facial shape	1906	EDN1	ORPHA:137888
HP:0001999	Abnormal facial shape	2313	FLI1	ORPHA:2308
HP:0001999	Abnormal facial shape	8200	GDF5	ORPHA:3237
HP:0001999	Abnormal facial shape	2254	FGF9	ORPHA:3237
HP:0001999	Abnormal facial shape	1123	CHN1	ORPHA:233
HP:0001999	Abnormal facial shape	64840	PORCN	OMIM:305600
HP:0001999	Abnormal facial shape	64840	PORCN	ORPHA:2092
HP:0001999	Abnormal facial shape	5518	PPP2R1A	OMIM:616362
HP:0001999	Abnormal facial shape	5518	PPP2R1A	ORPHA:457284
HP:0001999	Abnormal facial shape	5311	PKD2	OMIM:613095
HP:0001999	Abnormal facial shape	392255	GDF6	OMIM:118100
HP:0001999	Abnormal facial shape	392255	GDF6	ORPHA:2345
HP:0001999	Abnormal facial shape	6608	SMO	OMIM:601707
HP:0001999	Abnormal facial shape	6608	SMO	ORPHA:1553
HP:0001999	Abnormal facial shape	1909	EDNRA	OMIM:616367
HP:0001999	Abnormal facial shape	6660	SOX5	OMIM:616803
HP:0001999	Abnormal facial shape	8239	USP9X	ORPHA:480880
HP:0001999	Abnormal facial shape	8239	USP9X	OMIM:300968
HP:0001999	Abnormal facial shape	80036	TRPM3	OMIM:620224
HP:0001999	Abnormal facial shape	7204	TRIO	OMIM:617061
HP:0001999	Abnormal facial shape	7204	TRIO	ORPHA:476126
HP:0001999	Abnormal facial shape	6299	SALL1	ORPHA:857
HP:0001999	Abnormal facial shape	51339	DACT1	ORPHA:857
HP:0001999	Abnormal facial shape	6785	ELOVL4	ORPHA:1955
HP:0001999	Abnormal facial shape	4626	MYH8	OMIM:158300
HP:0001999	Abnormal facial shape	4123	MAN2C1	OMIM:619775
HP:0001999	Abnormal facial shape	63916	ELMO2	OMIM:606893
HP:0001999	Abnormal facial shape	3730	ANOS1	OMIM:308700
HP:0001999	Abnormal facial shape	57647	DHX37	OMIM:618731
HP:0001999	Abnormal facial shape	8621	CDK13	OMIM:617360
HP:0001999	Abnormal facial shape	7545	ZIC1	OMIM:618736
HP:0001999	Abnormal facial shape	9573	GDF3	ORPHA:2345
HP:0001999	Abnormal facial shape	4222	MEOX1	ORPHA:2345
HP:0001999	Abnormal facial shape	121340	SP7	OMIM:613849
HP:0001999	Abnormal facial shape	50651	SLC45A1	OMIM:617532
HP:0001999	Abnormal facial shape	83932	SPRTN	OMIM:616200
HP:0001999	Abnormal facial shape	161742	SPRED1	OMIM:611431
HP:0001999	Abnormal facial shape	9820	CUL7	ORPHA:2616
HP:0001999	Abnormal facial shape	9820	CUL7	OMIM:273750
HP:0001999	Abnormal facial shape	23363	OBSL1	ORPHA:2616
HP:0001999	Abnormal facial shape	23363	OBSL1	OMIM:612921
HP:0001999	Abnormal facial shape	83987	CCDC8	ORPHA:2616
HP:0001999	Abnormal facial shape	83987	CCDC8	OMIM:614205
HP:0001999	Abnormal facial shape	2629	GBA1	OMIM:608013
HP:0001999	Abnormal facial shape	283120	H19	ORPHA:231140
HP:0001999	Abnormal facial shape	283120	H19	ORPHA:231144
HP:0001999	Abnormal facial shape	116931	MED12L	OMIM:618872
HP:0001999	Abnormal facial shape	9184	BUB3	ORPHA:1052
HP:0001999	Abnormal facial shape	699	BUB1	ORPHA:1052
HP:0001999	Abnormal facial shape	9319	TRIP13	ORPHA:1052
HP:0001999	Abnormal facial shape	701	BUB1B	ORPHA:1052
HP:0001999	Abnormal facial shape	22872	SEC31A	OMIM:618651
HP:0001999	Abnormal facial shape	4591	TRIM37	OMIM:253250
HP:0001999	Abnormal facial shape	649	BMP1	OMIM:614856
HP:0001999	Abnormal facial shape	4598	MVK	OMIM:610377
HP:0001999	Abnormal facial shape	4598	MVK	ORPHA:29
HP:0001999	Abnormal facial shape	26057	ANKRD17	OMIM:619504
HP:0001999	Abnormal facial shape	7809	BSND	ORPHA:89938
HP:0001999	Abnormal facial shape	1188	CLCNKB	ORPHA:89938
HP:0001999	Abnormal facial shape	1187	CLCNKA	ORPHA:89938
HP:0001999	Abnormal facial shape	54914	FOCAD	OMIM:619991
HP:0001999	Abnormal facial shape	8558	CDK10	OMIM:617694
HP:0001999	Abnormal facial shape	5593	PRKG2	OMIM:619638
HP:0001999	Abnormal facial shape	5593	PRKG2	OMIM:619636
HP:0001999	Abnormal facial shape	80067	DCAF17	ORPHA:3464
HP:0001999	Abnormal facial shape	80067	DCAF17	OMIM:241080
HP:0001999	Abnormal facial shape	11128	POLR3A	OMIM:264090
HP:0001999	Abnormal facial shape	11128	POLR3A	ORPHA:3455
HP:0001999	Abnormal facial shape	7750	ZMYM2	OMIM:619522
HP:0001999	Abnormal facial shape	5324	PLAG1	ORPHA:397590
HP:0001999	Abnormal facial shape	5324	PLAG1	OMIM:618907
HP:0001999	Abnormal facial shape	8091	HMGA2	ORPHA:397590
HP:0001999	Abnormal facial shape	8091	HMGA2	OMIM:618908
HP:0001999	Abnormal facial shape	8091	HMGA2	ORPHA:94063
HP:0001999	Abnormal facial shape	182	JAG1	OMIM:118450
HP:0001999	Abnormal facial shape	63895	PIEZO2	ORPHA:1154
HP:0001999	Abnormal facial shape	63895	PIEZO2	OMIM:108145
HP:0001999	Abnormal facial shape	9772	TMEM94	OMIM:618316
HP:0001999	Abnormal facial shape	57724	EPG5	OMIM:242840
HP:0001999	Abnormal facial shape	5295	PIK3R1	OMIM:269880
HP:0001999	Abnormal facial shape	5295	PIK3R1	ORPHA:3163
HP:0001999	Abnormal facial shape	5818	NECTIN1	OMIM:225060
HP:0001999	Abnormal facial shape	51574	LARP7	ORPHA:319671
HP:0001999	Abnormal facial shape	51574	LARP7	OMIM:615071
HP:0001999	Abnormal facial shape	387733	IFITM5	OMIM:610967
HP:0001999	Abnormal facial shape	60681	FKBP10	OMIM:610968
HP:0001999	Abnormal facial shape	60681	FKBP10	ORPHA:2771
HP:0001999	Abnormal facial shape	5781	PTPN11	OMIM:151100
HP:0001999	Abnormal facial shape	5781	PTPN11	ORPHA:500
HP:0001999	Abnormal facial shape	5781	PTPN11	ORPHA:648
HP:0001999	Abnormal facial shape	5781	PTPN11	OMIM:163950
HP:0001999	Abnormal facial shape	256297	PTF1A	ORPHA:65288
HP:0001999	Abnormal facial shape	256297	PTF1A	OMIM:609069
HP:0001999	Abnormal facial shape	867	CBL	OMIM:613563
HP:0001999	Abnormal facial shape	867	CBL	ORPHA:648
HP:0001999	Abnormal facial shape	5081	PAX7	OMIM:618578
HP:0001999	Abnormal facial shape	3720	JARID2	OMIM:620098
HP:0001999	Abnormal facial shape	7227	TRPS1	ORPHA:77258
HP:0001999	Abnormal facial shape	6909	TBX2	OMIM:618223
HP:0001999	Abnormal facial shape	54517	PUS7	OMIM:618342
HP:0001999	Abnormal facial shape	29926	GMPPA	OMIM:615510
HP:0001999	Abnormal facial shape	1277	COL1A1	OMIM:259420
HP:0001999	Abnormal facial shape	1278	COL1A2	OMIM:259420
HP:0001999	Abnormal facial shape	221496	LEMD2	OMIM:619322
HP:0001999	Abnormal facial shape	9871	SEC24D	OMIM:616294
HP:0001999	Abnormal facial shape	55215	FANCI	OMIM:609053
HP:0001999	Abnormal facial shape	5831	PYCR1	OMIM:614438
HP:0001999	Abnormal facial shape	5831	PYCR1	OMIM:612940
HP:0001999	Abnormal facial shape	90161	HS6ST2	OMIM:301025
HP:0001999	Abnormal facial shape	10735	STAG2	OMIM:301022
HP:0001999	Abnormal facial shape	57551	TAOK1	OMIM:619575
HP:0001999	Abnormal facial shape	201163	FLCN	OMIM:610883
HP:0001999	Abnormal facial shape	57211	ADGRG6	OMIM:616503
HP:0001999	Abnormal facial shape	23592	LEMD3	ORPHA:94063
HP:0001999	Abnormal facial shape	5718	PSMD12	ORPHA:529962
HP:0001999	Abnormal facial shape	2186	BPTF	ORPHA:529962
HP:0001999	Abnormal facial shape	3758	KCNJ1	OMIM:241200
HP:0001999	Abnormal facial shape	23594	ORC6	OMIM:613803
HP:0001999	Abnormal facial shape	990	CDC6	OMIM:613805
HP:0001999	Abnormal facial shape	29957	SLC25A24	OMIM:612289
HP:0001999	Abnormal facial shape	5352	PLOD2	ORPHA:2771
HP:0001999	Abnormal facial shape	8405	SPOP	OMIM:618829
HP:0001999	Abnormal facial shape	9935	MAFB	ORPHA:2774
HP:0001999	Abnormal facial shape	9935	MAFB	OMIM:166300
HP:0001999	Abnormal facial shape	60676	PAPPA2	OMIM:619489
HP:0001999	Abnormal facial shape	10651	MTX2	OMIM:619127
HP:0001999	Abnormal facial shape	23112	TNRC6B	OMIM:619243
HP:0001999	Abnormal facial shape	57570	TRMT5	OMIM:616539
HP:0001999	Abnormal facial shape	2176	FANCC	OMIM:227645
HP:0001999	Abnormal facial shape	22800	RRAS2	ORPHA:648
HP:0001999	Abnormal facial shape	8216	LZTR1	ORPHA:648
HP:0001999	Abnormal facial shape	6016	RIT1	ORPHA:648
HP:0001999	Abnormal facial shape	6237	RRAS	ORPHA:648
HP:0001999	Abnormal facial shape	6654	SOS1	ORPHA:648
HP:0001999	Abnormal facial shape	6655	SOS2	ORPHA:648
HP:0001999	Abnormal facial shape	5922	RASA2	ORPHA:648
HP:0001999	Abnormal facial shape	284361	EMC10	OMIM:619264
HP:0001999	Abnormal facial shape	523	ATP6V1A	OMIM:617403
HP:0001999	Abnormal facial shape	529	ATP6V1E1	OMIM:617402
HP:0001999	Abnormal facial shape	4654	MYOD1	OMIM:618975
HP:0001999	Abnormal facial shape	871	SERPINH1	OMIM:613848
HP:0001999	Abnormal facial shape	2273	FHL1	OMIM:300280
HP:0001999	Abnormal facial shape	7528	YY1	ORPHA:506358
HP:0001999	Abnormal facial shape	10134	BCAP31	OMIM:300475
HP:0001999	Abnormal facial shape	10134	BCAP31	ORPHA:369939
HP:0001999	Abnormal facial shape	137814	NKX2-6	ORPHA:3384
HP:0001999	Abnormal facial shape	23129	PLXND1	ORPHA:3384
HP:0001999	Abnormal facial shape	126326	GIPC3	OMIM:601869
HP:0001999	Abnormal facial shape	23019	CNOT1	OMIM:619033
HP:0001999	Abnormal facial shape	5393	EXOSC9	OMIM:618065
HP:0001999	Abnormal facial shape	1024	CDK8	OMIM:618748
HP:0001999	Abnormal facial shape	5238	PGM3	ORPHA:443811
HP:0001999	Abnormal facial shape	84282	RNF135	ORPHA:137634
HP:0001999	Abnormal facial shape	9254	CACNA2D2	OMIM:618501
HP:0001999	Abnormal facial shape	5894	RAF1	OMIM:611553
HP:0001999	Abnormal facial shape	10274	STAG1	ORPHA:502434
HP:0001999	Abnormal facial shape	6218	RPS17	OMIM:612527
HP:0001999	Abnormal facial shape	84570	COL25A1	ORPHA:91411
HP:0001999	Abnormal facial shape	79776	ZFHX4	ORPHA:91411
HP:0001999	Abnormal facial shape	23126	POGZ	ORPHA:468678
HP:0001999	Abnormal facial shape	5447	POR	ORPHA:95699
HP:0001999	Abnormal facial shape	24137	KIF4A	OMIM:300923
HP:0001999	Abnormal facial shape	27245	AHDC1	ORPHA:412069
HP:0001999	Abnormal facial shape	27229	TUBGCP4	OMIM:616335
HP:0001999	Abnormal facial shape	55904	KMT2E	OMIM:618512
HP:0001999	Abnormal facial shape	5631	PRPS1	ORPHA:411536
HP:0001999	Abnormal facial shape	55780	ERMARD	ORPHA:75857
HP:0001999	Abnormal facial shape	9289	ADGRG1	OMIM:606854
HP:0001999	Abnormal facial shape	5832	ALDH18A1	OMIM:616586
HP:0001999	Abnormal facial shape	5832	ALDH18A1	ORPHA:90348
HP:0001999	Abnormal facial shape	5832	ALDH18A1	ORPHA:447760
HP:0001999	Abnormal facial shape	191	AHCY	OMIM:613752
HP:0001999	Abnormal facial shape	191	AHCY	ORPHA:88618
HP:0001999	Abnormal facial shape	79184	BRCC3	ORPHA:280679
HP:0001999	Abnormal facial shape	283989	TSEN54	ORPHA:166063
HP:0001999	Abnormal facial shape	283989	TSEN54	ORPHA:2524
HP:0001999	Abnormal facial shape	9839	ZEB2	ORPHA:261552
HP:0001999	Abnormal facial shape	9839	ZEB2	ORPHA:261537
HP:0001999	Abnormal facial shape	51651	PTRH2	ORPHA:456312
HP:0001999	Abnormal facial shape	26053	AUTS2	ORPHA:352490
HP:0001999	Abnormal facial shape	2903	GRIN2A	ORPHA:289266
HP:0001999	Abnormal facial shape	54872	PIGG	ORPHA:488635
HP:0001999	Abnormal facial shape	10352	WARS2	ORPHA:572798
HP:0001999	Abnormal facial shape	8295	TRRAP	OMIM:618778
HP:0001999	Abnormal facial shape	657	BMPR1A	ORPHA:79076
HP:0001999	Abnormal facial shape	165	AEBP1	ORPHA:536532
HP:0001999	Abnormal facial shape	1499	CTNNB1	ORPHA:404473
HP:0001999	Abnormal facial shape	10804	GJB6	ORPHA:477
HP:0001999	Abnormal facial shape	2706	GJB2	ORPHA:477
HP:0001999	Abnormal facial shape	7025	NR2F1	ORPHA:401777
HP:0001999	Abnormal facial shape	5626	PROP1	ORPHA:226307
HP:0001999	Abnormal facial shape	89884	LHX4	ORPHA:226307
HP:0001999	Abnormal facial shape	8022	LHX3	ORPHA:226307
HP:0001999	Abnormal facial shape	5449	POU1F1	ORPHA:226307
HP:0001999	Abnormal facial shape	8820	HESX1	ORPHA:226307
HP:0001999	Abnormal facial shape	3748	KCNC3	ORPHA:98768
HP:0001999	Abnormal facial shape	1859	DYRK1A	ORPHA:464311
HP:0001999	Abnormal facial shape	1859	DYRK1A	ORPHA:268261
HP:0001999	Abnormal facial shape	56052	ALG1	ORPHA:79327
HP:0001999	Abnormal facial shape	4247	MGAT2	ORPHA:79329
HP:0001999	Abnormal facial shape	79228	THOC6	ORPHA:363444
HP:0001999	Abnormal facial shape	58508	KMT2C	ORPHA:261652
HP:0001999	Abnormal facial shape	58508	KMT2C	OMIM:617768
HP:0001999	Abnormal facial shape	50485	SMARCAL1	ORPHA:1830
HP:0001999	Abnormal facial shape	81887	LAS1L	ORPHA:3459
HP:0001999	Abnormal facial shape	55869	HDAC8	ORPHA:3459
HP:0001999	Abnormal facial shape	2255	FGF10	ORPHA:2363
HP:0001999	Abnormal facial shape	8642	DCHS1	ORPHA:314679
HP:0001999	Abnormal facial shape	7841	MOGS	ORPHA:79330
HP:0001999	Abnormal facial shape	388015	RTL1	ORPHA:96334
HP:0001999	Abnormal facial shape	8788	DLK1	ORPHA:96334
HP:0001999	Abnormal facial shape	55384	MEG3	ORPHA:96334
HP:0001999	Abnormal facial shape	2324	FLT4	ORPHA:79452
HP:0001999	Abnormal facial shape	57165	GJC2	ORPHA:79452
HP:0001999	Abnormal facial shape	2683	B4GALT1	ORPHA:79332
HP:0001999	Abnormal facial shape	91949	COG7	ORPHA:79333
HP:0001999	Abnormal facial shape	3718	JAK3	ORPHA:35078
HP:0001999	Abnormal facial shape	23065	EMC1	ORPHA:480898
HP:0001999	Abnormal facial shape	51567	TDP2	ORPHA:404493
HP:0001999	Abnormal facial shape	158	ADSL	ORPHA:46
HP:0001999	Abnormal facial shape	22880	MORC2	OMIM:619090
HP:0001999	Abnormal facial shape	22880	MORC2	ORPHA:466768
HP:0001999	Abnormal facial shape	8218	CLTCL1	ORPHA:453510
HP:0001999	Abnormal facial shape	5308	PITX2	OMIM:137600
HP:0001999	Abnormal facial shape	10516	FBLN5	ORPHA:90348
HP:0001999	Abnormal facial shape	10516	FBLN5	ORPHA:90349
HP:0001999	Abnormal facial shape	54916	TMEM260	OMIM:617478
HP:0001999	Abnormal facial shape	30008	EFEMP2	ORPHA:90349
HP:0001999	Abnormal facial shape	29929	ALG6	ORPHA:79320
HP:0001999	Abnormal facial shape	6509	SLC1A4	ORPHA:447997
HP:0001999	Abnormal facial shape	6513	SLC2A1	ORPHA:1942
HP:0001999	Abnormal facial shape	1173	AP2M1	ORPHA:1942
HP:0001999	Abnormal facial shape	6323	SCN1A	ORPHA:1942
HP:0001999	Abnormal facial shape	1106	CHD2	ORPHA:1942
HP:0001999	Abnormal facial shape	6529	SLC6A1	ORPHA:1942
HP:0001999	Abnormal facial shape	79053	ALG8	ORPHA:79325
HP:0001999	Abnormal facial shape	7546	ZIC2	OMIM:609637
HP:0001999	Abnormal facial shape	25970	SH2B1	ORPHA:261197
HP:0001999	Abnormal facial shape	55690	PACS1	ORPHA:329224
HP:0001999	Abnormal facial shape	1144	CHRND	OMIM:253290
HP:0001999	Abnormal facial shape	1134	CHRNA1	OMIM:253290
HP:0001999	Abnormal facial shape	165918	RNF168	OMIM:611943
HP:0001999	Abnormal facial shape	165918	RNF168	ORPHA:420741
HP:0001999	Abnormal facial shape	90417	KNSTRN	OMIM:613328
HP:0001999	Abnormal facial shape	90417	KNSTRN	ORPHA:221139
HP:0001999	Abnormal facial shape	5293	PIK3CD	OMIM:613328
HP:0001999	Abnormal facial shape	5293	PIK3CD	ORPHA:221139
HP:0001999	Abnormal facial shape	60495	HPSE2	OMIM:236730
HP:0001999	Abnormal facial shape	1801	DPH1	ORPHA:459061
HP:0001999	Abnormal facial shape	4126	MANBA	ORPHA:118
HP:0001999	Abnormal facial shape	4126	MANBA	OMIM:248510
HP:0001999	Abnormal facial shape	3479	IGF1	ORPHA:73272
HP:0001999	Abnormal facial shape	123606	NIPA1	ORPHA:261183
HP:0001999	Abnormal facial shape	7283	TUBG1	ORPHA:261183
HP:0001999	Abnormal facial shape	81614	NIPA2	ORPHA:261183
HP:0001999	Abnormal facial shape	57102	C12orf4	OMIM:618221
HP:0001999	Abnormal facial shape	51621	KLF13	OMIM:612001
HP:0001999	Abnormal facial shape	1139	CHRNA7	OMIM:612001
HP:0001999	Abnormal facial shape	9698	PUM1	OMIM:617931
HP:0001999	Abnormal facial shape	8818	DPM2	ORPHA:329178
HP:0001999	Abnormal facial shape	57122	NUP107	OMIM:618348
HP:0001999	Abnormal facial shape	57122	NUP107	OMIM:616730
HP:0001999	Abnormal facial shape	79796	ALG9	OMIM:608776
HP:0001999	Abnormal facial shape	6888	TALDO1	ORPHA:101028
HP:0001999	Abnormal facial shape	9150	CTDP1	OMIM:604168
HP:0001999	Abnormal facial shape	2972	BRF1	ORPHA:444072
HP:0001999	Abnormal facial shape	5649	RELN	ORPHA:89844
HP:0001999	Abnormal facial shape	10300	KATNB1	ORPHA:89844
HP:0001999	Abnormal facial shape	54820	NDE1	ORPHA:89844
HP:0001999	Abnormal facial shape	57520	HECW2	OMIM:617268
HP:0001999	Abnormal facial shape	5160	PDHA1	OMIM:312170
HP:0001999	Abnormal facial shape	5160	PDHA1	ORPHA:79243
HP:0001999	Abnormal facial shape	6492	SIM1	ORPHA:171829
HP:0001999	Abnormal facial shape	6492	SIM1	ORPHA:398079
HP:0001999	Abnormal facial shape	10157	AASS	ORPHA:2203
HP:0001999	Abnormal facial shape	998	CDC42	OMIM:616737
HP:0001999	Abnormal facial shape	998	CDC42	ORPHA:487796
HP:0001999	Abnormal facial shape	9837	GINS1	OMIM:617827
HP:0001999	Abnormal facial shape	5053	PAH	ORPHA:2209
HP:0001999	Abnormal facial shape	427	ASAH1	ORPHA:333
HP:0001999	Abnormal facial shape	473	RERE	ORPHA:494344
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177904
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177910
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177907
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:411515
HP:0001999	Abnormal facial shape	4692	NDN	ORPHA:177904
HP:0001999	Abnormal facial shape	4692	NDN	ORPHA:177910
HP:0001999	Abnormal facial shape	4948	OCA2	ORPHA:177904
HP:0001999	Abnormal facial shape	5994	RFXAP	ORPHA:572
HP:0001999	Abnormal facial shape	4261	CIITA	ORPHA:572
HP:0001999	Abnormal facial shape	5993	RFX5	ORPHA:572
HP:0001999	Abnormal facial shape	8625	RFXANK	ORPHA:572
HP:0001999	Abnormal facial shape	7874	USP7	OMIM:616863
HP:0001999	Abnormal facial shape	7874	USP7	ORPHA:500055
HP:0001999	Abnormal facial shape	29920	PYCR2	ORPHA:481152
HP:0001999	Abnormal facial shape	2077	ERF	ORPHA:207
HP:0001999	Abnormal facial shape	54539	NDUFB11	ORPHA:2556
HP:0001999	Abnormal facial shape	1349	COX7B	ORPHA:2556
HP:0001999	Abnormal facial shape	3052	HCCS	ORPHA:2556
HP:0001999	Abnormal facial shape	2475	MTOR	ORPHA:457485
HP:0001999	Abnormal facial shape	25839	COG4	OMIM:613489
HP:0001999	Abnormal facial shape	5723	PSPH	ORPHA:79350
HP:0001999	Abnormal facial shape	26227	PHGDH	ORPHA:79351
HP:0001999	Abnormal facial shape	80185	TTI2	ORPHA:391307
HP:0001999	Abnormal facial shape	3028	HSD17B10	ORPHA:391428
HP:0001999	Abnormal facial shape	2464	FRA16E	OMIM:136570
HP:0001999	Abnormal facial shape	4613	MYCN	ORPHA:391641
HP:0001999	Abnormal facial shape	10664	CTCF	ORPHA:363611
HP:0001999	Abnormal facial shape	26005	C2CD3	ORPHA:434179
HP:0001999	Abnormal facial shape	23233	EXOC6B	ORPHA:93359
HP:0001999	Abnormal facial shape	9894	TELO2	ORPHA:488642
HP:0001999	Abnormal facial shape	285175	UNC80	ORPHA:371364
HP:0001999	Abnormal facial shape	25914	RTTN	ORPHA:468631
HP:0001999	Abnormal facial shape	7040	TGFB1	ORPHA:1328
HP:0001999	Abnormal facial shape	5184	PEPD	ORPHA:742
HP:0001999	Abnormal facial shape	10128	LRPPRC	ORPHA:70472
HP:0001999	Abnormal facial shape	28514	DLL1	OMIM:618709
HP:0001999	Abnormal facial shape	10283	CWC27	ORPHA:166035
HP:0001999	Abnormal facial shape	2887	GRB10	ORPHA:96182
HP:0001999	Abnormal facial shape	113189	CHST14	OMIM:601776
HP:0001999	Abnormal facial shape	5162	PDHB	ORPHA:255138
HP:0001999	Abnormal facial shape	22796	COG2	ORPHA:435934
HP:0001999	Abnormal facial shape	440138	ALG11	ORPHA:280071
HP:0001999	Abnormal facial shape	83737	ITCH	OMIM:613385
HP:0001999	Abnormal facial shape	83737	ITCH	ORPHA:228426
HP:0001999	Abnormal facial shape	116461	TSEN15	ORPHA:2524
HP:0001999	Abnormal facial shape	79042	TSEN34	ORPHA:2524
HP:0001999	Abnormal facial shape	80746	TSEN2	ORPHA:2524
HP:0001999	Abnormal facial shape	51091	SEPSECS	ORPHA:2524
HP:0001999	Abnormal facial shape	8292	COLQ	ORPHA:98915
HP:0001999	Abnormal facial shape	3913	LAMB2	ORPHA:98915
HP:0001999	Abnormal facial shape	407975	MIR17HG	ORPHA:391646
HP:0001999	Abnormal facial shape	6748	SSR4	ORPHA:370927
HP:0001999	Abnormal facial shape	1493	CTLA4	ORPHA:3162
HP:0001999	Abnormal facial shape	940	CD28	ORPHA:3162
HP:0001999	Abnormal facial shape	7133	TNFRSF1B	ORPHA:3162
HP:0001999	Abnormal facial shape	6651	SON	ORPHA:500150
HP:0001999	Abnormal facial shape	51317	PHF21A	OMIM:618725
HP:0001999	Abnormal facial shape	10273	STUB1	ORPHA:412057
HP:0001999	Abnormal facial shape	131118	DNAJC19	ORPHA:66634
HP:0001999	Abnormal facial shape	5879	RAC1	ORPHA:500159
HP:0001999	Abnormal facial shape	8777	MPDZ	OMIM:615219
HP:0001999	Abnormal facial shape	55788	LMBRD1	ORPHA:79284
HP:0001999	Abnormal facial shape	5468	PPARG	ORPHA:528
HP:0001999	Abnormal facial shape	10555	AGPAT2	ORPHA:528
HP:0001999	Abnormal facial shape	284119	CAVIN1	ORPHA:528
HP:0001999	Abnormal facial shape	2353	FOS	ORPHA:528
HP:0001999	Abnormal facial shape	857	CAV1	ORPHA:528
HP:0001999	Abnormal facial shape	79644	SRD5A3	ORPHA:324737
HP:0001999	Abnormal facial shape	23309	SIN3B	ORPHA:500166
HP:0001999	Abnormal facial shape	91574	MTRFR	ORPHA:320375
HP:0001999	Abnormal facial shape	35	ACADS	ORPHA:26792
HP:0001999	Abnormal facial shape	51109	RDH11	ORPHA:436245
HP:0001999	Abnormal facial shape	4281	MID1	ORPHA:2745
HP:0001999	Abnormal facial shape	9652	SKIC3	ORPHA:84064
HP:0001999	Abnormal facial shape	6499	SKIC2	ORPHA:84064
HP:0001999	Abnormal facial shape	11342	RNF13	ORPHA:544503
HP:0001999	Abnormal facial shape	5130	PCYT1A	OMIM:608940
HP:0001999	Abnormal facial shape	7337	UBE3A	ORPHA:411515
HP:0001999	Abnormal facial shape	57194	ATP10A	ORPHA:411515
HP:0001999	Abnormal facial shape	3480	IGF1R	OMIM:270450
HP:0001999	Abnormal facial shape	2108	ETFA	OMIM:231680
HP:0001999	Abnormal facial shape	2109	ETFB	OMIM:231680
HP:0001999	Abnormal facial shape	2110	ETFDH	OMIM:231680
HP:0001999	Abnormal facial shape	6235	RPS29	OMIM:615909
HP:0001999	Abnormal facial shape	3762	KCNJ5	ORPHA:37553
HP:0001999	Abnormal facial shape	3759	KCNJ2	ORPHA:37553
HP:0001999	Abnormal facial shape	26281	FGF20	OMIM:615721
HP:0001999	Abnormal facial shape	183	AGT	OMIM:267430
HP:0001999	Abnormal facial shape	5972	REN	OMIM:267430
HP:0001999	Abnormal facial shape	185	AGTR1	OMIM:267430
HP:0001999	Abnormal facial shape	1636	ACE	OMIM:267430
HP:0001999	Abnormal facial shape	7317	UBA1	ORPHA:1145
HP:0001999	Abnormal facial shape	2674	GFRA1	OMIM:619887
HP:0001999	Abnormal facial shape	5076	PAX2	ORPHA:97362
HP:0001999	Abnormal facial shape	8516	ITGA8	OMIM:191830
HP:0001999	Abnormal facial shape	55165	CEP55	OMIM:236500
HP:0001999	Abnormal facial shape	27031	NPHP3	OMIM:208540
HP:0001999	Abnormal facial shape	5314	PKHD1	OMIM:263200
HP:0001999	Abnormal facial shape	341208	HEPHL1	OMIM:261990
HP:0001999	Abnormal facial shape	2193	FARSA	OMIM:619013
HP:0001999	Abnormal facial shape	4094	MAF	OMIM:601088
HP:0001999	Abnormal facial shape	53834	FGFRL1	OMIM:194190
HP:0001999	Abnormal facial shape	1487	CTBP1	OMIM:194190
HP:0001999	Abnormal facial shape	3954	LETM1	OMIM:194190
HP:0001999	Abnormal facial shape	7468	NSD2	OMIM:194190
HP:0001999	Abnormal facial shape	10815	CPLX1	OMIM:194190
HP:0001999	Abnormal facial shape	9896	FIG4	OMIM:216340
HP:0001999	Abnormal facial shape	3736	KCNA1	ORPHA:37612
HP:0001999	Abnormal facial shape	760	CA2	ORPHA:2785
HP:0001999	Abnormal facial shape	7314	UBB	ORPHA:99772
HP:0001999	Abnormal facial shape	57822	GRHL3	ORPHA:99772
HP:0001999	Abnormal facial shape	84172	POLR1B	ORPHA:861
HP:0001999	Abnormal facial shape	9533	POLR1C	ORPHA:861
HP:0001999	Abnormal facial shape	51082	POLR1D	ORPHA:861
HP:0001999	Abnormal facial shape	6949	TCOF1	ORPHA:861
HP:0001999	Abnormal facial shape	860	RUNX2	ORPHA:1452
HP:0001999	Abnormal facial shape	2260	FGFR1	ORPHA:99798
HP:0001999	Abnormal facial shape	4487	MSX1	ORPHA:99798
HP:0001999	Abnormal facial shape	128178	EDARADD	ORPHA:99798
HP:0001999	Abnormal facial shape	5083	PAX9	ORPHA:99798
HP:0001999	Abnormal facial shape	7341	SUMO1	ORPHA:99798
HP:0001999	Abnormal facial shape	1896	EDA	ORPHA:99798
HP:0001999	Abnormal facial shape	8313	AXIN2	ORPHA:99798
HP:0001999	Abnormal facial shape	3664	IRF6	ORPHA:99798
HP:0001999	Abnormal facial shape	4040	LRP6	ORPHA:99798
HP:0001999	Abnormal facial shape	7039	TGFA	ORPHA:99798
HP:0001999	Abnormal facial shape	7480	WNT10B	ORPHA:99798
HP:0001999	Abnormal facial shape	387	RHOA	OMIM:618727
HP:0001999	Abnormal facial shape	147912	SIX5	OMIM:610896
HP:0001999	Abnormal facial shape	10992	SF3B2	OMIM:164210
HP:0001999	Abnormal facial shape	26275	HIBCH	ORPHA:88639
HP:0001999	Abnormal facial shape	9949	AMMECR1	OMIM:300990
HP:0001999	Abnormal facial shape	5193	PEX12	OMIM:266510
HP:0001999	Abnormal facial shape	5193	PEX12	OMIM:614859
HP:0001999	Abnormal facial shape	5193	PEX12	ORPHA:912
HP:0001999	Abnormal facial shape	2335	FN1	ORPHA:93315
HP:0001999	Abnormal facial shape	5885	RAD21	OMIM:614701
HP:0001999	Abnormal facial shape	347734	SLC35B2	OMIM:620269
HP:0001999	Abnormal facial shape	5077	PAX3	ORPHA:1529
HP:0001999	Abnormal facial shape	5077	PAX3	OMIM:122880
HP:0001999	Abnormal facial shape	2261	FGFR3	ORPHA:93274
HP:0001999	Abnormal facial shape	2261	FGFR3	ORPHA:1860
HP:0001999	Abnormal facial shape	6662	SOX9	ORPHA:140
HP:0001999	Abnormal facial shape	6662	SOX9	OMIM:114290
HP:0001999	Abnormal facial shape	2623	GATA1	OMIM:190685
HP:0001999	Abnormal facial shape	126792	B3GALT6	ORPHA:2725
HP:0001999	Abnormal facial shape	126792	B3GALT6	OMIM:271640
HP:0001999	Abnormal facial shape	126792	B3GALT6	OMIM:615349
HP:0001999	Abnormal facial shape	28960	DCPS	OMIM:616459
HP:0001999	Abnormal facial shape	10982	MAPRE2	OMIM:616734
HP:0001999	Abnormal facial shape	999	CDH1	OMIM:119580
HP:0001999	Abnormal facial shape	5189	PEX1	OMIM:214100
HP:0001999	Abnormal facial shape	5189	PEX1	ORPHA:912
HP:0001999	Abnormal facial shape	9126	SMC3	OMIM:610759
HP:0001999	Abnormal facial shape	4297	KMT2A	OMIM:605130
HP:0001999	Abnormal facial shape	4297	KMT2A	ORPHA:319182
HP:0001999	Abnormal facial shape	6595	SMARCA2	OMIM:619293
HP:0001999	Abnormal facial shape	4148	MATN3	ORPHA:156728
HP:0001999	Abnormal facial shape	4148	MATN3	OMIM:608728
HP:0001999	Abnormal facial shape	2263	FGFR2	ORPHA:87
HP:0001999	Abnormal facial shape	2263	FGFR2	OMIM:101400
HP:0001999	Abnormal facial shape	2263	FGFR2	OMIM:101200
HP:0001999	Abnormal facial shape	4621	MYH3	OMIM:193700
HP:0001999	Abnormal facial shape	818	CAMK2G	OMIM:618522
HP:0001999	Abnormal facial shape	10082	GPC6	OMIM:258315
HP:0001999	Abnormal facial shape	10606	PAICS	OMIM:619859
HP:0001999	Abnormal facial shape	5191	PEX7	OMIM:215100
HP:0001999	Abnormal facial shape	3339	HSPG2	ORPHA:1865
HP:0001999	Abnormal facial shape	3339	HSPG2	OMIM:224410
HP:0001999	Abnormal facial shape	3339	HSPG2	OMIM:255800
HP:0001999	Abnormal facial shape	3339	HSPG2	ORPHA:800
HP:0001999	Abnormal facial shape	1281	COL3A1	ORPHA:286
HP:0001999	Abnormal facial shape	1301	COL11A1	ORPHA:560
HP:0001999	Abnormal facial shape	1301	COL11A1	OMIM:228520
HP:0001999	Abnormal facial shape	1301	COL11A1	ORPHA:250984
HP:0001999	Abnormal facial shape	1500	CTNND1	OMIM:617681
HP:0001999	Abnormal facial shape	54968	TMEM70	OMIM:614052
HP:0001999	Abnormal facial shape	10524	KAT5	OMIM:619103
HP:0001999	Abnormal facial shape	4330	MN1	OMIM:618774
HP:0001999	Abnormal facial shape	8985	PLOD3	OMIM:612394
HP:0001999	Abnormal facial shape	3070	HELLS	ORPHA:2268
HP:0001999	Abnormal facial shape	1789	DNMT3B	ORPHA:2268
HP:0001999	Abnormal facial shape	1789	DNMT3B	OMIM:242860
HP:0001999	Abnormal facial shape	83879	CDCA7	ORPHA:2268
HP:0001999	Abnormal facial shape	83879	CDCA7	OMIM:616910
HP:0001999	Abnormal facial shape	9841	ZBTB24	ORPHA:2268
HP:0001999	Abnormal facial shape	55012	PPP2R3C	OMIM:618419
HP:0001999	Abnormal facial shape	55969	RAB5IF	OMIM:616994
HP:0001999	Abnormal facial shape	1009	CDH11	ORPHA:1299
HP:0001999	Abnormal facial shape	7291	TWIST1	OMIM:101400
HP:0001999	Abnormal facial shape	7291	TWIST1	OMIM:180750
HP:0001999	Abnormal facial shape	139285	AMER1	ORPHA:2780
HP:0001999	Abnormal facial shape	10522	DEAF1	OMIM:615828
HP:0001999	Abnormal facial shape	54496	PRMT7	ORPHA:464288
HP:0001999	Abnormal facial shape	9361	LONP1	ORPHA:1458
HP:0001999	Abnormal facial shape	3835	KIF22	ORPHA:93360
HP:0001999	Abnormal facial shape	11285	B4GALT7	OMIM:130070
HP:0001999	Abnormal facial shape	1836	SLC26A2	OMIM:600972
HP:0001999	Abnormal facial shape	1836	SLC26A2	ORPHA:93298
HP:0001999	Abnormal facial shape	9851	KIAA0753	OMIM:619479
HP:0001999	Abnormal facial shape	9851	KIAA0753	OMIM:617127
HP:0001999	Abnormal facial shape	7862	BRPF1	OMIM:617333
HP:0001999	Abnormal facial shape	5063	PAK3	OMIM:300558
HP:0001999	Abnormal facial shape	79633	FAT4	OMIM:616006
HP:0001999	Abnormal facial shape	79633	FAT4	ORPHA:2136
HP:0001999	Abnormal facial shape	9508	ADAMTS3	ORPHA:2136
HP:0001999	Abnormal facial shape	9508	ADAMTS3	OMIM:618154
HP:0001999	Abnormal facial shape	147372	CCBE1	ORPHA:2136
HP:0001999	Abnormal facial shape	147372	CCBE1	OMIM:235510
HP:0001999	Abnormal facial shape	4659	PPP1R12A	OMIM:618820
HP:0001999	Abnormal facial shape	5828	PEX2	OMIM:614866
HP:0001999	Abnormal facial shape	5828	PEX2	ORPHA:912
HP:0001999	Abnormal facial shape	54499	TMCO1	OMIM:213980
HP:0001999	Abnormal facial shape	23545	ATP6V0A2	OMIM:219200
HP:0001999	Abnormal facial shape	2571	GAD1	OMIM:619124
HP:0001999	Abnormal facial shape	203068	TUBB	OMIM:156610
HP:0001999	Abnormal facial shape	54928	BPNT2	OMIM:614078
HP:0001999	Abnormal facial shape	202018	TAPT1	OMIM:616897
HP:0001999	Abnormal facial shape	55670	PEX26	OMIM:614872
HP:0001999	Abnormal facial shape	55670	PEX26	ORPHA:912
HP:0001999	Abnormal facial shape	4920	ROR2	OMIM:268310
HP:0001999	Abnormal facial shape	9321	TRIP11	OMIM:200600
HP:0001999	Abnormal facial shape	9321	TRIP11	ORPHA:93299
HP:0001999	Abnormal facial shape	85365	ALG2	OMIM:607906
HP:0001999	Abnormal facial shape	64116	SLC39A8	ORPHA:468699
HP:0001999	Abnormal facial shape	1302	COL11A2	ORPHA:1427
HP:0001999	Abnormal facial shape	7474	WNT5A	OMIM:180700
HP:0001999	Abnormal facial shape	1855	DVL1	OMIM:180700
HP:0001999	Abnormal facial shape	50945	TBX22	ORPHA:921
HP:0001999	Abnormal facial shape	10682	EBP	OMIM:302960
HP:0001999	Abnormal facial shape	9469	CHST3	OMIM:245600
HP:0001999	Abnormal facial shape	26229	B3GAT3	OMIM:245600
HP:0001999	Abnormal facial shape	1297	COL9A1	OMIM:614134
HP:0001999	Abnormal facial shape	1297	COL9A1	ORPHA:250984
HP:0001999	Abnormal facial shape	1298	COL9A2	ORPHA:250984
HP:0001999	Abnormal facial shape	1299	COL9A3	ORPHA:250984
HP:0001999	Abnormal facial shape	84695	LOXL3	ORPHA:250984
HP:0001999	Abnormal facial shape	5824	PEX19	ORPHA:912
HP:0001999	Abnormal facial shape	8504	PEX3	ORPHA:912
HP:0001999	Abnormal facial shape	8799	PEX11B	ORPHA:912
HP:0001999	Abnormal facial shape	9409	PEX16	ORPHA:912
HP:0001999	Abnormal facial shape	5190	PEX6	ORPHA:912
HP:0001999	Abnormal facial shape	5830	PEX5	ORPHA:912
HP:0001999	Abnormal facial shape	5194	PEX13	ORPHA:912
HP:0001999	Abnormal facial shape	5195	PEX14	ORPHA:912
HP:0001999	Abnormal facial shape	5192	PEX10	ORPHA:912
HP:0001999	Abnormal facial shape	6023	RMRP	ORPHA:175
HP:0001999	Abnormal facial shape	112858	TP53RK	OMIM:617730
HP:0001999	Abnormal facial shape	2314	FLII	ORPHA:819
HP:0001999	Abnormal facial shape	23096	IQSEC2	ORPHA:819
HP:0001999	Abnormal facial shape	9244	CRLF1	OMIM:272430
HP:0001999	Abnormal facial shape	9244	CRLF1	ORPHA:1545
HP:0001999	Abnormal facial shape	23529	CLCF1	ORPHA:1545
HP:0001999	Abnormal facial shape	8622	PDE8B	ORPHA:189439
HP:0001999	Abnormal facial shape	84196	USP48	ORPHA:96253
HP:0001999	Abnormal facial shape	7157	TP53	ORPHA:96253
HP:0001999	Abnormal facial shape	9101	USP8	ORPHA:96253
HP:0001999	Abnormal facial shape	64072	CDH23	ORPHA:96253
HP:0001999	Abnormal facial shape	2908	NR3C1	ORPHA:96253
HP:0000347	Micrognathia	2737	GLI3	ORPHA:672
HP:0000347	Micrognathia	22827	PUF60	ORPHA:508498
HP:0000347	Micrognathia	22827	PUF60	ORPHA:508488
HP:0000347	Micrognathia	57190	SELENON	ORPHA:324604
HP:0000347	Micrognathia	4625	MYH7	ORPHA:324604
HP:0000347	Micrognathia	7273	TTN	ORPHA:324604
HP:0000347	Micrognathia	55906	ZC4H2	OMIM:301041
HP:0000347	Micrognathia	6134	RPL10	OMIM:300998
HP:0000347	Micrognathia	6134	RPL10	ORPHA:459070
HP:0000347	Micrognathia	286053	NSMCE2	OMIM:617253
HP:0000347	Micrognathia	4000	LMNA	OMIM:619793
HP:0000347	Micrognathia	50814	NSDHL	ORPHA:251383
HP:0000347	Micrognathia	9871	SEC24D	OMIM:616294
HP:0000347	Micrognathia	374654	KIF7	OMIM:200990
HP:0000347	Micrognathia	79868	ALG13	OMIM:300884
HP:0000347	Micrognathia	5649	RELN	ORPHA:89844
HP:0000347	Micrognathia	10300	KATNB1	ORPHA:89844
HP:0000347	Micrognathia	54820	NDE1	ORPHA:89844
HP:0000347	Micrognathia	55790	CSGALNACT1	OMIM:618870
HP:0000347	Micrognathia	26224	FBXL3	OMIM:606220
HP:0000347	Micrognathia	4784	NFIX	OMIM:602535
HP:0000347	Micrognathia	84068	SLC10A7	OMIM:618363
HP:0000347	Micrognathia	8260	NAA10	OMIM:300855
HP:0000347	Micrognathia	8260	NAA10	ORPHA:276432
HP:0000347	Micrognathia	113189	CHST14	ORPHA:2953
HP:0000347	Micrognathia	113189	CHST14	OMIM:601776
HP:0000347	Micrognathia	29940	DSE	ORPHA:2953
HP:0000347	Micrognathia	9692	PRORP	OMIM:619737
HP:0000347	Micrognathia	7994	KAT6A	ORPHA:457193
HP:0000347	Micrognathia	7994	KAT6A	OMIM:616268
HP:0000347	Micrognathia	90993	CREB3L1	OMIM:616229
HP:0000347	Micrognathia	9325	TRIP4	OMIM:616866
HP:0000347	Micrognathia	1717	DHCR7	OMIM:270400
HP:0000347	Micrognathia	54968	TMEM70	OMIM:614052
HP:0000347	Micrognathia	1501	CTNND2	ORPHA:281
HP:0000347	Micrognathia	9037	SEMA5A	ORPHA:281
HP:0000347	Micrognathia	23327	NEDD4L	OMIM:617201
HP:0000347	Micrognathia	23545	ATP6V0A2	OMIM:278250
HP:0000347	Micrognathia	9419	CRIPT	OMIM:615789
HP:0000347	Micrognathia	25942	SIN3A	OMIM:613406
HP:0000347	Micrognathia	26005	C2CD3	OMIM:615948
HP:0000347	Micrognathia	26005	C2CD3	ORPHA:434179
HP:0000347	Micrognathia	23594	ORC6	OMIM:613803
HP:0000347	Micrognathia	59336	PRDM13	OMIM:619909
HP:0000347	Micrognathia	10526	IPO8	OMIM:619472
HP:0000347	Micrognathia	340419	RSPO2	OMIM:618021
HP:0000347	Micrognathia	23443	SLC35A3	OMIM:615553
HP:0000347	Micrognathia	9894	TELO2	ORPHA:488642
HP:0000347	Micrognathia	79770	TXNDC15	OMIM:619879
HP:0000347	Micrognathia	25914	RTTN	ORPHA:468631
HP:0000347	Micrognathia	55165	CEP55	OMIM:236500
HP:0000347	Micrognathia	79796	ALG9	ORPHA:79328
HP:0000347	Micrognathia	10682	EBP	OMIM:300960
HP:0000347	Micrognathia	23556	PIGN	ORPHA:280633
HP:0000347	Micrognathia	2571	GAD1	OMIM:619124
HP:0000347	Micrognathia	6872	TAF1	OMIM:300966
HP:0000347	Micrognathia	55617	TASP1	OMIM:618950
HP:0000347	Micrognathia	51305	KCNK9	OMIM:612292
HP:0000347	Micrognathia	5075	PAX1	OMIM:615560
HP:0000347	Micrognathia	8481	OFD1	OMIM:311200
HP:0000347	Micrognathia	60482	SLC5A7	ORPHA:98914
HP:0000347	Micrognathia	4649	MYO9A	ORPHA:98914
HP:0000347	Micrognathia	1305	COL13A1	ORPHA:98914
HP:0000347	Micrognathia	1103	CHAT	ORPHA:98914
HP:0000347	Micrognathia	6576	SLC25A1	ORPHA:98914
HP:0000347	Micrognathia	6843	VAMP1	ORPHA:98914
HP:0000347	Micrognathia	375790	AGRN	ORPHA:98914
HP:0000347	Micrognathia	127833	SYT2	ORPHA:98914
HP:0000347	Micrognathia	6572	SLC18A3	ORPHA:98914
HP:0000347	Micrognathia	6616	SNAP25	ORPHA:98914
HP:0000347	Micrognathia	100506658	OCLN	OMIM:251290
HP:0000347	Micrognathia	55717	WDR11	OMIM:620237
HP:0000347	Micrognathia	124583	CANT1	OMIM:251450
HP:0000347	Micrognathia	7846	TUBA1A	ORPHA:171680
HP:0000347	Micrognathia	342035	GLDN	OMIM:617194
HP:0000347	Micrognathia	153241	CEP120	OMIM:616300
HP:0000347	Micrognathia	8565	YARS1	OMIM:619418
HP:0000347	Micrognathia	8815	BANF1	OMIM:614008
HP:0000347	Micrognathia	51082	POLR1D	OMIM:613717
HP:0000347	Micrognathia	10262	SF3B4	ORPHA:1788
HP:0000347	Micrognathia	9469	CHST3	OMIM:245600
HP:0000347	Micrognathia	26229	B3GAT3	OMIM:245600
HP:0000347	Micrognathia	1280	COL2A1	OMIM:200610
HP:0000347	Micrognathia	11133	KPTN	ORPHA:397612
HP:0000347	Micrognathia	9775	EIF4A3	OMIM:268305
HP:0000347	Micrognathia	26173	INTS1	OMIM:618571
HP:0000347	Micrognathia	51053	GMNN	OMIM:616835
HP:0000347	Micrognathia	1718	DHCR24	OMIM:602398
HP:0000347	Micrognathia	1718	DHCR24	ORPHA:35107
HP:0000347	Micrognathia	4897	NRCAM	OMIM:619833
HP:0000347	Micrognathia	1134	CHRNA1	OMIM:608930
HP:0000347	Micrognathia	1134	CHRNA1	OMIM:253290
HP:0000347	Micrognathia	55209	SETD5	ORPHA:404440
HP:0000347	Micrognathia	55209	SETD5	OMIM:615761
HP:0000347	Micrognathia	2317	FLNB	ORPHA:56305
HP:0000347	Micrognathia	2317	FLNB	ORPHA:1190
HP:0000347	Micrognathia	2317	FLNB	OMIM:108721
HP:0000347	Micrognathia	2317	FLNB	OMIM:108720
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:56304
HP:0000347	Micrognathia	1836	SLC26A2	OMIM:256050
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:93298
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:628
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:93307
HP:0000347	Micrognathia	6662	SOX9	ORPHA:140
HP:0000347	Micrognathia	6662	SOX9	OMIM:114290
HP:0000347	Micrognathia	6662	SOX9	ORPHA:718
HP:0000347	Micrognathia	5932	RBBP8	OMIM:606744
HP:0000347	Micrognathia	5932	RBBP8	ORPHA:808
HP:0000347	Micrognathia	2073	ERCC5	OMIM:616570
HP:0000347	Micrognathia	2073	ERCC5	ORPHA:1466
HP:0000347	Micrognathia	9578	CDC42BPB	OMIM:619841
HP:0000347	Micrognathia	80816	ASXL3	OMIM:615485
HP:0000347	Micrognathia	1855	DVL1	OMIM:616331
HP:0000347	Micrognathia	1855	DVL1	OMIM:180700
HP:0000347	Micrognathia	1855	DVL1	ORPHA:3107
HP:0000347	Micrognathia	27245	AHDC1	ORPHA:412069
HP:0000347	Micrognathia	27245	AHDC1	OMIM:615829
HP:0000347	Micrognathia	23426	GRIP1	OMIM:617667
HP:0000347	Micrognathia	5184	PEPD	OMIM:170100
HP:0000347	Micrognathia	5184	PEPD	ORPHA:742
HP:0000347	Micrognathia	10084	PQBP1	ORPHA:93946
HP:0000347	Micrognathia	10084	PQBP1	OMIM:309500
HP:0000347	Micrognathia	57082	KNL1	OMIM:604321
HP:0000347	Micrognathia	79158	GNPTAB	OMIM:252500
HP:0000347	Micrognathia	284403	WDR62	OMIM:604317
HP:0000347	Micrognathia	1513	CTSK	OMIM:265800
HP:0000347	Micrognathia	1513	CTSK	ORPHA:763
HP:0000347	Micrognathia	55154	MSTO1	OMIM:617675
HP:0000347	Micrognathia	55154	MSTO1	ORPHA:502423
HP:0000347	Micrognathia	54453	RIN2	OMIM:613075
HP:0000347	Micrognathia	1020	CDK5	OMIM:616342
HP:0000347	Micrognathia	79029	AFG2B	OMIM:619616
HP:0000347	Micrognathia	64359	NXN	OMIM:618529
HP:0000347	Micrognathia	64359	NXN	ORPHA:1507
HP:0000347	Micrognathia	9968	MED12	ORPHA:93932
HP:0000347	Micrognathia	9968	MED12	ORPHA:776
HP:0000347	Micrognathia	9968	MED12	OMIM:309520
HP:0000347	Micrognathia	9968	MED12	OMIM:305450
HP:0000347	Micrognathia	9968	MED12	OMIM:300895
HP:0000347	Micrognathia	55681	SCYL2	OMIM:618766
HP:0000347	Micrognathia	55681	SCYL2	ORPHA:1143
HP:0000347	Micrognathia	4604	MYBPC1	OMIM:618524
HP:0000347	Micrognathia	5191	PEX7	OMIM:215100
HP:0000347	Micrognathia	3339	HSPG2	ORPHA:1865
HP:0000347	Micrognathia	3339	HSPG2	OMIM:255800
HP:0000347	Micrognathia	3339	HSPG2	OMIM:224410
HP:0000347	Micrognathia	3339	HSPG2	ORPHA:800
HP:0000347	Micrognathia	2697	GJA1	ORPHA:2710
HP:0000347	Micrognathia	2697	GJA1	OMIM:257850
HP:0000347	Micrognathia	9401	RECQL4	OMIM:218600
HP:0000347	Micrognathia	9401	RECQL4	OMIM:268400
HP:0000347	Micrognathia	9401	RECQL4	ORPHA:1225
HP:0000347	Micrognathia	171023	ASXL1	ORPHA:97297
HP:0000347	Micrognathia	171023	ASXL1	OMIM:605039
HP:0000347	Micrognathia	89910	UBE3B	ORPHA:2707
HP:0000347	Micrognathia	89910	UBE3B	OMIM:244450
HP:0000347	Micrognathia	2316	FLNA	ORPHA:90652
HP:0000347	Micrognathia	2316	FLNA	ORPHA:1826
HP:0000347	Micrognathia	2316	FLNA	ORPHA:555877
HP:0000347	Micrognathia	2316	FLNA	OMIM:309350
HP:0000347	Micrognathia	2316	FLNA	OMIM:304120
HP:0000347	Micrognathia	2316	FLNA	ORPHA:2484
HP:0000347	Micrognathia	11285	B4GALT7	OMIM:130070
HP:0000347	Micrognathia	26038	CHD5	OMIM:619873
HP:0000347	Micrognathia	5034	P4HB	OMIM:112240
HP:0000347	Micrognathia	5034	P4HB	ORPHA:2050
HP:0000347	Micrognathia	6905	TBCE	OMIM:241410
HP:0000347	Micrognathia	6905	TBCE	ORPHA:2323
HP:0000347	Micrognathia	23126	POGZ	OMIM:616364
HP:0000347	Micrognathia	1909	EDNRA	OMIM:616367
HP:0000347	Micrognathia	9091	PIGQ	OMIM:618548
HP:0000347	Micrognathia	5728	PTEN	ORPHA:109
HP:0000347	Micrognathia	5728	PTEN	OMIM:158350
HP:0000347	Micrognathia	55210	ATAD3A	ORPHA:496790
HP:0000347	Micrognathia	55210	ATAD3A	OMIM:617183
HP:0000347	Micrognathia	55210	ATAD3A	OMIM:618810
HP:0000347	Micrognathia	8818	DPM2	OMIM:615042
HP:0000347	Micrognathia	8818	DPM2	ORPHA:329178
HP:0000347	Micrognathia	4285	MIPEP	OMIM:617228
HP:0000347	Micrognathia	163175	LGI4	OMIM:617468
HP:0000347	Micrognathia	79971	WLS	OMIM:619648
HP:0000347	Micrognathia	79633	FAT4	ORPHA:314679
HP:0000347	Micrognathia	79633	FAT4	OMIM:615546
HP:0000347	Micrognathia	8642	DCHS1	ORPHA:314679
HP:0000347	Micrognathia	8642	DCHS1	OMIM:601390
HP:0000347	Micrognathia	56975	FAM20C	ORPHA:1832
HP:0000347	Micrognathia	56975	FAM20C	OMIM:259775
HP:0000347	Micrognathia	1301	COL11A1	ORPHA:440354
HP:0000347	Micrognathia	1301	COL11A1	ORPHA:560
HP:0000347	Micrognathia	1301	COL11A1	OMIM:154780
HP:0000347	Micrognathia	1301	COL11A1	OMIM:604841
HP:0000347	Micrognathia	1301	COL11A1	ORPHA:250984
HP:0000347	Micrognathia	3930	LBR	OMIM:215140
HP:0000347	Micrognathia	3930	LBR	ORPHA:1426
HP:0000347	Micrognathia	23483	TGDS	OMIM:616145
HP:0000347	Micrognathia	23483	TGDS	ORPHA:1388
HP:0000347	Micrognathia	84168	ANTXR1	OMIM:230740
HP:0000347	Micrognathia	84168	ANTXR1	ORPHA:2067
HP:0000347	Micrognathia	64919	BCL11B	OMIM:617237
HP:0000347	Micrognathia	25836	NIPBL	OMIM:122470
HP:0000347	Micrognathia	25836	NIPBL	ORPHA:199
HP:0000347	Micrognathia	6885	MAP3K7	ORPHA:1826
HP:0000347	Micrognathia	641	BLM	ORPHA:125
HP:0000347	Micrognathia	6135	RPL11	ORPHA:124
HP:0000347	Micrognathia	6138	RPL15	ORPHA:124
HP:0000347	Micrognathia	6229	RPS24	ORPHA:124
HP:0000347	Micrognathia	6125	RPL5	ORPHA:124
HP:0000347	Micrognathia	6125	RPL5	OMIM:612561
HP:0000347	Micrognathia	6204	RPS10	ORPHA:124
HP:0000347	Micrognathia	6224	RPS20	ORPHA:124
HP:0000347	Micrognathia	6165	RPL35A	ORPHA:124
HP:0000347	Micrognathia	2623	GATA1	ORPHA:124
HP:0000347	Micrognathia	6223	RPS19	ORPHA:124
HP:0000347	Micrognathia	6223	RPS19	OMIM:105650
HP:0000347	Micrognathia	6232	RPS27	ORPHA:124
HP:0000347	Micrognathia	6231	RPS26	ORPHA:124
HP:0000347	Micrognathia	6231	RPS26	OMIM:613309
HP:0000347	Micrognathia	11224	RPL35	ORPHA:124
HP:0000347	Micrognathia	6160	RPL31	ORPHA:124
HP:0000347	Micrognathia	6218	RPS17	ORPHA:124
HP:0000347	Micrognathia	6201	RPS7	ORPHA:124
HP:0000347	Micrognathia	6155	RPL27	ORPHA:124
HP:0000347	Micrognathia	6154	RPL26	ORPHA:124
HP:0000347	Micrognathia	6210	RPS15A	ORPHA:124
HP:0000347	Micrognathia	90121	TSR2	ORPHA:124
HP:0000347	Micrognathia	90121	TSR2	OMIM:300946
HP:0000347	Micrognathia	6141	RPL18	ORPHA:124
HP:0000347	Micrognathia	6235	RPS29	ORPHA:124
HP:0000347	Micrognathia	6234	RPS28	ORPHA:124
HP:0000347	Micrognathia	6234	RPS28	OMIM:606164
HP:0000347	Micrognathia	51816	ADA2	ORPHA:124
HP:0000347	Micrognathia	25970	SH2B1	ORPHA:261197
HP:0000347	Micrognathia	1387	CREBBP	OMIM:618332
HP:0000347	Micrognathia	1387	CREBBP	OMIM:180849
HP:0000347	Micrognathia	1387	CREBBP	ORPHA:353277
HP:0000347	Micrognathia	2033	EP300	OMIM:618333
HP:0000347	Micrognathia	2033	EP300	OMIM:613684
HP:0000347	Micrognathia	2033	EP300	ORPHA:353284
HP:0000347	Micrognathia	2033	EP300	OMIM:180849
HP:0000347	Micrognathia	9742	IFT140	OMIM:266920
HP:0000347	Micrognathia	5881	RAC3	OMIM:618577
HP:0000347	Micrognathia	54101	RIPK4	OMIM:263650
HP:0000347	Micrognathia	54101	RIPK4	ORPHA:1234
HP:0000347	Micrognathia	9427	ECEL1	OMIM:615065
HP:0000347	Micrognathia	7227	TRPS1	OMIM:190350
HP:0000347	Micrognathia	7227	TRPS1	ORPHA:77258
HP:0000347	Micrognathia	7046	TGFBR1	OMIM:609192
HP:0000347	Micrognathia	7046	TGFBR1	ORPHA:60030
HP:0000347	Micrognathia	5426	POLE	OMIM:618336
HP:0000347	Micrognathia	5081	PAX7	OMIM:618578
HP:0000347	Micrognathia	389827	MYMK	OMIM:254940
HP:0000347	Micrognathia	389827	MYMK	ORPHA:1358
HP:0000347	Micrognathia	5813	PURA	ORPHA:314655
HP:0000347	Micrognathia	9949	AMMECR1	OMIM:300990
HP:0000347	Micrognathia	3479	IGF1	ORPHA:73272
HP:0000347	Micrognathia	3479	IGF1	OMIM:608747
HP:0000347	Micrognathia	4921	DDR2	OMIM:271665
HP:0000347	Micrognathia	9488	PIGB	OMIM:618580
HP:0000347	Micrognathia	1281	COL3A1	OMIM:618343
HP:0000347	Micrognathia	1281	COL3A1	ORPHA:2500
HP:0000347	Micrognathia	54517	PUS7	OMIM:618342
HP:0000347	Micrognathia	8573	CASK	OMIM:300749
HP:0000347	Micrognathia	8573	CASK	ORPHA:163937
HP:0000347	Micrognathia	79912	PYROXD1	OMIM:617258
HP:0000347	Micrognathia	5396	PRRX1	OMIM:202650
HP:0000347	Micrognathia	1798	DPAGT1	OMIM:608093
HP:0000347	Micrognathia	57122	NUP107	OMIM:618348
HP:0000347	Micrognathia	57122	NUP107	ORPHA:2065
HP:0000347	Micrognathia	57122	NUP107	OMIM:616730
HP:0000347	Micrognathia	2200	FBN1	ORPHA:284979
HP:0000347	Micrognathia	2200	FBN1	OMIM:154700
HP:0000347	Micrognathia	2200	FBN1	ORPHA:2462
HP:0000347	Micrognathia	27125	AFF4	ORPHA:444077
HP:0000347	Micrognathia	10733	PLK4	OMIM:616171
HP:0000347	Micrognathia	10733	PLK4	ORPHA:808
HP:0000347	Micrognathia	2972	BRF1	ORPHA:444072
HP:0000347	Micrognathia	91754	NEK9	OMIM:617022
HP:0000347	Micrognathia	23114	NFASC	OMIM:618356
HP:0000347	Micrognathia	6492	SIM1	ORPHA:171829
HP:0000347	Micrognathia	51114	ZDHHC9	ORPHA:776
HP:0000347	Micrognathia	65109	UPF3B	ORPHA:776
HP:0000347	Micrognathia	4952	OCRL	ORPHA:534
HP:0000347	Micrognathia	29954	POMT2	OMIM:236670
HP:0000347	Micrognathia	9215	LARGE1	OMIM:236670
HP:0000347	Micrognathia	79147	FKRP	OMIM:236670
HP:0000347	Micrognathia	10585	POMT1	OMIM:236670
HP:0000347	Micrognathia	2218	FKTN	OMIM:236670
HP:0000347	Micrognathia	473	RERE	ORPHA:494344
HP:0000347	Micrognathia	473	RERE	OMIM:616975
HP:0000347	Micrognathia	55777	MBD5	OMIM:156200
HP:0000347	Micrognathia	5980	REV3L	ORPHA:570
HP:0000347	Micrognathia	23129	PLXND1	ORPHA:570
HP:0000347	Micrognathia	3039	HBA1	ORPHA:98791
HP:0000347	Micrognathia	3040	HBA2	ORPHA:98791
HP:0000347	Micrognathia	51132	RLIM	OMIM:300978
HP:0000347	Micrognathia	63925	ZNF335	OMIM:615095
HP:0000347	Micrognathia	22930	RAB3GAP1	OMIM:600118
HP:0000347	Micrognathia	22930	RAB3GAP1	ORPHA:2510
HP:0000347	Micrognathia	22930	RAB3GAP1	ORPHA:1387
HP:0000347	Micrognathia	51434	ANAPC7	OMIM:619699
HP:0000347	Micrognathia	4998	ORC1	OMIM:224690
HP:0000347	Micrognathia	4998	ORC1	ORPHA:2554
HP:0000347	Micrognathia	92255	LMBRD2	OMIM:619694
HP:0000347	Micrognathia	7468	NSD2	OMIM:619695
HP:0000347	Micrognathia	7468	NSD2	OMIM:194190
HP:0000347	Micrognathia	7468	NSD2	ORPHA:280
HP:0000347	Micrognathia	201163	FLCN	OMIM:610883
HP:0000347	Micrognathia	1312	COMT	ORPHA:567
HP:0000347	Micrognathia	221037	JMJD1C	ORPHA:567
HP:0000347	Micrognathia	2812	GP1BB	ORPHA:567
HP:0000347	Micrognathia	6239	RREB1	ORPHA:567
HP:0000347	Micrognathia	6899	TBX1	ORPHA:567
HP:0000347	Micrognathia	6899	TBX1	ORPHA:1727
HP:0000347	Micrognathia	6899	TBX1	OMIM:188400
HP:0000347	Micrognathia	7290	HIRA	ORPHA:567
HP:0000347	Micrognathia	9632	SEC24C	ORPHA:567
HP:0000347	Micrognathia	7353	UFD1	ORPHA:567
HP:0000347	Micrognathia	421	ARVCF	ORPHA:567
HP:0000347	Micrognathia	7136	TNNI2	OMIM:601680
HP:0000347	Micrognathia	7136	TNNI2	ORPHA:1147
HP:0000347	Micrognathia	538	ATP7A	ORPHA:565
HP:0000347	Micrognathia	84314	TMEM107	ORPHA:564
HP:0000347	Micrognathia	84314	TMEM107	OMIM:617562
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:564
HP:0000347	Micrognathia	26123	TCTN3	OMIM:258860
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:2753
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:2754
HP:0000347	Micrognathia	79867	TCTN2	ORPHA:564
HP:0000347	Micrognathia	80776	B9D2	ORPHA:564
HP:0000347	Micrognathia	79600	TCTN1	ORPHA:564
HP:0000347	Micrognathia	57096	RPGRIP1	ORPHA:564
HP:0000347	Micrognathia	79848	CSPP1	ORPHA:564
HP:0000347	Micrognathia	79848	CSPP1	ORPHA:397715
HP:0000347	Micrognathia	80184	CEP290	ORPHA:564
HP:0000347	Micrognathia	51259	TMEM216	ORPHA:564
HP:0000347	Micrognathia	51259	TMEM216	ORPHA:2754
HP:0000347	Micrognathia	57545	CC2D2A	ORPHA:564
HP:0000347	Micrognathia	79583	TMEM231	ORPHA:564
HP:0000347	Micrognathia	91147	TMEM67	ORPHA:564
HP:0000347	Micrognathia	27077	B9D1	ORPHA:564
HP:0000347	Micrognathia	23322	RPGRIP1L	ORPHA:564
HP:0000347	Micrognathia	54903	MKS1	ORPHA:564
HP:0000347	Micrognathia	54903	MKS1	OMIM:249000
HP:0000347	Micrognathia	65062	TMEM237	ORPHA:564
HP:0000347	Micrognathia	7317	UBA1	OMIM:301830
HP:0000347	Micrognathia	3188	HNRNPH2	OMIM:300986
HP:0000347	Micrognathia	4613	MYCN	OMIM:164280
HP:0000347	Micrognathia	4613	MYCN	ORPHA:391641
HP:0000347	Micrognathia	26040	SETBP1	ORPHA:798
HP:0000347	Micrognathia	4927	NUP88	ORPHA:994
HP:0000347	Micrognathia	4927	NUP88	OMIM:618393
HP:0000347	Micrognathia	4654	MYOD1	ORPHA:994
HP:0000347	Micrognathia	4593	MUSK	ORPHA:994
HP:0000347	Micrognathia	4593	MUSK	OMIM:208150
HP:0000347	Micrognathia	5913	RAPSN	ORPHA:994
HP:0000347	Micrognathia	5913	RAPSN	OMIM:618388
HP:0000347	Micrognathia	285489	DOK7	ORPHA:994
HP:0000347	Micrognathia	285489	DOK7	OMIM:618389
HP:0000347	Micrognathia	50801	KCNK4	OMIM:618381
HP:0000347	Micrognathia	65250	CPLANE1	OMIM:277170
HP:0000347	Micrognathia	65250	CPLANE1	ORPHA:2754
HP:0000347	Micrognathia	134218	DNAJC21	OMIM:617052
HP:0000347	Micrognathia	57061	HYMAI	ORPHA:96191
HP:0000347	Micrognathia	5325	PLAGL1	ORPHA:96191
HP:0000347	Micrognathia	348180	CTU2	OMIM:618142
HP:0000347	Micrognathia	6608	SMO	OMIM:241800
HP:0000347	Micrognathia	80036	TRPM3	OMIM:620224
HP:0000347	Micrognathia	10283	CWC27	ORPHA:166035
HP:0000347	Micrognathia	10283	CWC27	OMIM:250410
HP:0000347	Micrognathia	388015	RTL1	ORPHA:96184
HP:0000347	Micrognathia	388015	RTL1	ORPHA:96334
HP:0000347	Micrognathia	388015	RTL1	ORPHA:254531
HP:0000347	Micrognathia	388015	RTL1	ORPHA:254525
HP:0000347	Micrognathia	8788	DLK1	ORPHA:96184
HP:0000347	Micrognathia	8788	DLK1	ORPHA:96334
HP:0000347	Micrognathia	8788	DLK1	ORPHA:254531
HP:0000347	Micrognathia	8788	DLK1	ORPHA:254525
HP:0000347	Micrognathia	55384	MEG3	ORPHA:96184
HP:0000347	Micrognathia	55384	MEG3	ORPHA:96334
HP:0000347	Micrognathia	55384	MEG3	ORPHA:254531
HP:0000347	Micrognathia	55384	MEG3	ORPHA:254525
HP:0000347	Micrognathia	2887	GRB10	ORPHA:96182
HP:0000347	Micrognathia	25839	COG4	OMIM:618150
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:740
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:90154
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:1662
HP:0000347	Micrognathia	10269	ZMPSTE24	OMIM:608612
HP:0000347	Micrognathia	10269	ZMPSTE24	OMIM:275210
HP:0000347	Micrognathia	1457	CSNK2A1	OMIM:617062
HP:0000347	Micrognathia	7204	TRIO	OMIM:617061
HP:0000347	Micrognathia	7204	TRIO	ORPHA:476126
HP:0000347	Micrognathia	2222	FDFT1	OMIM:618156
HP:0000347	Micrognathia	203068	TUBB	OMIM:156610
HP:0000347	Micrognathia	203068	TUBB	ORPHA:2505
HP:0000347	Micrognathia	374879	ZNF699	OMIM:619488
HP:0000347	Micrognathia	8567	MADD	OMIM:619005
HP:0000347	Micrognathia	55640	FLVCR2	OMIM:225790
HP:0000347	Micrognathia	23112	TNRC6B	OMIM:619243
HP:0000347	Micrognathia	9373	PLAA	ORPHA:521426
HP:0000347	Micrognathia	9373	PLAA	OMIM:617527
HP:0000347	Micrognathia	93587	TRMT10A	ORPHA:391408
HP:0000347	Micrognathia	84919	PPP1R15B	ORPHA:391408
HP:0000347	Micrognathia	84919	PPP1R15B	OMIM:616817
HP:0000347	Micrognathia	199221	DZIP1L	ORPHA:731
HP:0000347	Micrognathia	5314	PKHD1	ORPHA:731
HP:0000347	Micrognathia	60386	SLC25A19	OMIM:607196
HP:0000347	Micrognathia	60386	SLC25A19	ORPHA:99742
HP:0000347	Micrognathia	126792	B3GALT6	OMIM:271640
HP:0000347	Micrognathia	126792	B3GALT6	OMIM:609465
HP:0000347	Micrognathia	126792	B3GALT6	ORPHA:93359
HP:0000347	Micrognathia	126792	B3GALT6	ORPHA:536467
HP:0000347	Micrognathia	10436	EMG1	OMIM:211180
HP:0000347	Micrognathia	10436	EMG1	ORPHA:1270
HP:0000347	Micrognathia	5745	PTH1R	OMIM:156400
HP:0000347	Micrognathia	5745	PTH1R	OMIM:215045
HP:0000347	Micrognathia	5745	PTH1R	ORPHA:50945
HP:0000347	Micrognathia	6748	SSR4	OMIM:300934
HP:0000347	Micrognathia	84464	SLX4	OMIM:613951
HP:0000347	Micrognathia	84464	SLX4	ORPHA:84
HP:0000347	Micrognathia	5557	PRIM1	OMIM:620005
HP:0000347	Micrognathia	219844	HYLS1	OMIM:236680
HP:0000347	Micrognathia	219844	HYLS1	ORPHA:2189
HP:0000347	Micrognathia	7474	WNT5A	OMIM:180700
HP:0000347	Micrognathia	7474	WNT5A	ORPHA:3107
HP:0000347	Micrognathia	2801	GOLGA2	OMIM:620240
HP:0000347	Micrognathia	9897	WASHC5	ORPHA:7
HP:0000347	Micrognathia	9897	WASHC5	OMIM:220210
HP:0000347	Micrognathia	28952	CCDC22	ORPHA:7
HP:0000347	Micrognathia	114034	TOE1	ORPHA:284339
HP:0000347	Micrognathia	114034	TOE1	OMIM:614969
HP:0000347	Micrognathia	9562	MINPP1	ORPHA:284339
HP:0000347	Micrognathia	55181	SMG8	OMIM:619268
HP:0000347	Micrognathia	51109	RDH11	ORPHA:436245
HP:0000347	Micrognathia	51002	TPRKB	ORPHA:2065
HP:0000347	Micrognathia	84942	WDR73	ORPHA:2065
HP:0000347	Micrognathia	84942	WDR73	OMIM:251300
HP:0000347	Micrognathia	55644	OSGEP	ORPHA:2065
HP:0000347	Micrognathia	55644	OSGEP	OMIM:617729
HP:0000347	Micrognathia	10785	WDR4	ORPHA:2065
HP:0000347	Micrognathia	55746	NUP133	ORPHA:2065
HP:0000347	Micrognathia	112858	TP53RK	ORPHA:2065
HP:0000347	Micrognathia	8270	LAGE3	ORPHA:2065
HP:0000347	Micrognathia	8270	LAGE3	OMIM:301006
HP:0000347	Micrognathia	8085	KMT2D	OMIM:147920
HP:0000347	Micrognathia	8085	KMT2D	OMIM:620186
HP:0000347	Micrognathia	7403	KDM6A	OMIM:147920
HP:0000347	Micrognathia	7403	KDM6A	OMIM:300867
HP:0000347	Micrognathia	168667	BMPER	OMIM:608022
HP:0000347	Micrognathia	8243	SMC1A	OMIM:300590
HP:0000347	Micrognathia	8243	SMC1A	ORPHA:199
HP:0000347	Micrognathia	2294	FOXF1	OMIM:265380
HP:0000347	Micrognathia	324	APC	ORPHA:261584
HP:0000347	Micrognathia	6309	SC5D	ORPHA:46059
HP:0000347	Micrognathia	6309	SC5D	OMIM:607330
HP:0000347	Micrognathia	161742	SPRED1	OMIM:611431
HP:0000347	Micrognathia	673	BRAF	OMIM:115150
HP:0000347	Micrognathia	673	BRAF	OMIM:163950
HP:0000347	Micrognathia	57539	WDR35	OMIM:613610
HP:0000347	Micrognathia	57539	WDR35	ORPHA:93271
HP:0000347	Micrognathia	7518	XRCC4	ORPHA:99812
HP:0000347	Micrognathia	7518	XRCC4	ORPHA:436182
HP:0000347	Micrognathia	3981	LIG4	ORPHA:99812
HP:0000347	Micrognathia	3981	LIG4	ORPHA:235
HP:0000347	Micrognathia	1303	COL12A1	ORPHA:75840
HP:0000347	Micrognathia	1303	COL12A1	ORPHA:536516
HP:0000347	Micrognathia	1291	COL6A1	ORPHA:75840
HP:0000347	Micrognathia	1292	COL6A2	ORPHA:75840
HP:0000347	Micrognathia	1293	COL6A3	ORPHA:75840
HP:0000347	Micrognathia	55112	DYNC2I1	ORPHA:93271
HP:0000347	Micrognathia	57560	IFT80	ORPHA:93271
HP:0000347	Micrognathia	79659	DYNC2H1	ORPHA:93271
HP:0000347	Micrognathia	89891	DYNC2I2	ORPHA:93271
HP:0000347	Micrognathia	80232	WDR26	ORPHA:513456
HP:0000347	Micrognathia	80232	WDR26	OMIM:617616
HP:0000347	Micrognathia	2314	FLII	ORPHA:819
HP:0000347	Micrognathia	23096	IQSEC2	ORPHA:819
HP:0000347	Micrognathia	23096	IQSEC2	ORPHA:397933
HP:0000347	Micrognathia	10743	RAI1	ORPHA:819
HP:0000347	Micrognathia	10743	RAI1	ORPHA:1713
HP:0000347	Micrognathia	10522	DEAF1	ORPHA:819
HP:0000347	Micrognathia	5818	NECTIN1	ORPHA:3253
HP:0000347	Micrognathia	29072	SETD2	OMIM:620157
HP:0000347	Micrognathia	29072	SETD2	OMIM:620155
HP:0000347	Micrognathia	55780	ERMARD	ORPHA:75857
HP:0000347	Micrognathia	10225	CD96	OMIM:211750
HP:0000347	Micrognathia	10225	CD96	ORPHA:1308
HP:0000347	Micrognathia	26153	KIF26A	OMIM:620156
HP:0000347	Micrognathia	9382	COG1	OMIM:611209
HP:0000347	Micrognathia	9382	COG1	ORPHA:263508
HP:0000347	Micrognathia	1763	DNA2	OMIM:615807
HP:0000347	Micrognathia	25778	DSTYK	OMIM:270750
HP:0000347	Micrognathia	84992	PIGY	ORPHA:247262
HP:0000347	Micrognathia	84720	PIGO	ORPHA:247262
HP:0000347	Micrognathia	93210	PGAP3	ORPHA:247262
HP:0000347	Micrognathia	284098	PIGW	ORPHA:247262
HP:0000347	Micrognathia	27315	PGAP2	ORPHA:247262
HP:0000347	Micrognathia	55650	PIGV	ORPHA:247262
HP:0000347	Micrognathia	9487	PIGL	ORPHA:247262
HP:0000347	Micrognathia	23522	KAT6B	OMIM:606170
HP:0000347	Micrognathia	23522	KAT6B	ORPHA:85201
HP:0000347	Micrognathia	23522	KAT6B	OMIM:603736
HP:0000347	Micrognathia	23522	KAT6B	ORPHA:3047
HP:0000347	Micrognathia	1801	DPH1	OMIM:616901
HP:0000347	Micrognathia	1801	DPH1	ORPHA:459061
HP:0000347	Micrognathia	672	BRCA1	ORPHA:84
HP:0000347	Micrognathia	10459	MAD2L2	ORPHA:84
HP:0000347	Micrognathia	7516	XRCC2	ORPHA:84
HP:0000347	Micrognathia	29089	UBE2T	ORPHA:84
HP:0000347	Micrognathia	675	BRCA2	ORPHA:84
HP:0000347	Micrognathia	55120	FANCL	ORPHA:84
HP:0000347	Micrognathia	55120	FANCL	OMIM:614083
HP:0000347	Micrognathia	2177	FANCD2	ORPHA:84
HP:0000347	Micrognathia	2175	FANCA	ORPHA:84
HP:0000347	Micrognathia	2187	FANCB	ORPHA:84
HP:0000347	Micrognathia	2187	FANCB	ORPHA:3412
HP:0000347	Micrognathia	2176	FANCC	ORPHA:84
HP:0000347	Micrognathia	2178	FANCE	ORPHA:84
HP:0000347	Micrognathia	2188	FANCF	ORPHA:84
HP:0000347	Micrognathia	2189	FANCG	ORPHA:84
HP:0000347	Micrognathia	5888	RAD51	ORPHA:84
HP:0000347	Micrognathia	5889	RAD51C	ORPHA:84
HP:0000347	Micrognathia	55159	RFWD3	ORPHA:84
HP:0000347	Micrognathia	83990	BRIP1	ORPHA:84
HP:0000347	Micrognathia	57697	FANCM	ORPHA:84
HP:0000347	Micrognathia	79728	PALB2	ORPHA:84
HP:0000347	Micrognathia	2072	ERCC4	ORPHA:84
HP:0000347	Micrognathia	55215	FANCI	ORPHA:84
HP:0000347	Micrognathia	9896	FIG4	ORPHA:3472
HP:0000347	Micrognathia	9896	FIG4	OMIM:216340
HP:0000347	Micrognathia	55697	VAC14	ORPHA:3472
HP:0000347	Micrognathia	9184	BUB3	ORPHA:1052
HP:0000347	Micrognathia	699	BUB1	ORPHA:1052
HP:0000347	Micrognathia	9702	CEP57	ORPHA:1052
HP:0000347	Micrognathia	9702	CEP57	OMIM:614114
HP:0000347	Micrognathia	9319	TRIP13	ORPHA:1052
HP:0000347	Micrognathia	701	BUB1B	ORPHA:1052
HP:0000347	Micrognathia	701	BUB1B	OMIM:257300
HP:0000347	Micrognathia	23036	ZNF292	OMIM:619188
HP:0000347	Micrognathia	23314	SATB2	OMIM:612313
HP:0000347	Micrognathia	23314	SATB2	ORPHA:576283
HP:0000347	Micrognathia	23314	SATB2	ORPHA:251028
HP:0000347	Micrognathia	23314	SATB2	ORPHA:251019
HP:0000347	Micrognathia	55636	CHD7	OMIM:214800
HP:0000347	Micrognathia	526	ATP6V1B2	ORPHA:3473
HP:0000347	Micrognathia	3756	KCNH1	ORPHA:3473
HP:0000347	Micrognathia	3782	KCNN3	ORPHA:3473
HP:0000347	Micrognathia	53834	FGFRL1	OMIM:194190
HP:0000347	Micrognathia	1487	CTBP1	OMIM:194190
HP:0000347	Micrognathia	1487	CTBP1	ORPHA:280
HP:0000347	Micrognathia	3954	LETM1	OMIM:194190
HP:0000347	Micrognathia	3954	LETM1	ORPHA:280
HP:0000347	Micrognathia	3954	LETM1	OMIM:620089
HP:0000347	Micrognathia	10815	CPLX1	OMIM:194190
HP:0000347	Micrognathia	10815	CPLX1	ORPHA:280
HP:0000347	Micrognathia	165	AEBP1	ORPHA:536532
HP:0000347	Micrognathia	165	AEBP1	OMIM:618000
HP:0000347	Micrognathia	3425	IDUA	OMIM:607015
HP:0000347	Micrognathia	3192	HNRNPU	ORPHA:238769
HP:0000347	Micrognathia	26053	AUTS2	OMIM:615834
HP:0000347	Micrognathia	26053	AUTS2	ORPHA:352490
HP:0000347	Micrognathia	10013	HDAC6	ORPHA:163966
HP:0000347	Micrognathia	79753	SNIP1	OMIM:614501
HP:0000347	Micrognathia	3211	HOXB1	OMIM:614744
HP:0000347	Micrognathia	54499	TMCO1	OMIM:213980
HP:0000347	Micrognathia	11128	POLR3A	OMIM:264090
HP:0000347	Micrognathia	23137	SMC5	OMIM:620185
HP:0000347	Micrognathia	10907	TXNL4A	OMIM:608572
HP:0000347	Micrognathia	79759	ZNF668	OMIM:620194
HP:0000347	Micrognathia	57459	GATAD2B	ORPHA:363686
HP:0000347	Micrognathia	6473	SHOX	OMIM:249700
HP:0000347	Micrognathia	6473	SHOX	ORPHA:314795
HP:0000347	Micrognathia	81887	LAS1L	ORPHA:3459
HP:0000347	Micrognathia	55869	HDAC8	ORPHA:3459
HP:0000347	Micrognathia	55869	HDAC8	ORPHA:199
HP:0000347	Micrognathia	55869	HDAC8	OMIM:300882
HP:0000347	Micrognathia	23261	CAMTA1	OMIM:614756
HP:0000347	Micrognathia	10472	ZBTB18	OMIM:612337
HP:0000347	Micrognathia	10472	ZBTB18	ORPHA:36367
HP:0000347	Micrognathia	2263	FGFR2	ORPHA:2363
HP:0000347	Micrognathia	2263	FGFR2	OMIM:614592
HP:0000347	Micrognathia	2263	FGFR2	ORPHA:313855
HP:0000347	Micrognathia	2261	FGFR3	ORPHA:2363
HP:0000347	Micrognathia	2255	FGF10	ORPHA:2363
HP:0000347	Micrognathia	2535	FZD2	OMIM:164745
HP:0000347	Micrognathia	2535	FZD2	ORPHA:3107
HP:0000347	Micrognathia	2535	FZD2	ORPHA:93328
HP:0000347	Micrognathia	8813	DPM1	OMIM:608799
HP:0000347	Micrognathia	8813	DPM1	ORPHA:79322
HP:0000347	Micrognathia	8242	KDM5C	OMIM:300534
HP:0000347	Micrognathia	6949	TCOF1	OMIM:154500
HP:0000347	Micrognathia	6949	TCOF1	ORPHA:861
HP:0000347	Micrognathia	546	ATRX	OMIM:309580
HP:0000347	Micrognathia	55275	VPS53	OMIM:615851
HP:0000347	Micrognathia	7048	TGFBR2	OMIM:610168
HP:0000347	Micrognathia	7048	TGFBR2	ORPHA:60030
HP:0000347	Micrognathia	545	ATR	ORPHA:808
HP:0000347	Micrognathia	545	ATR	OMIM:210600
HP:0000347	Micrognathia	1062	CENPE	ORPHA:808
HP:0000347	Micrognathia	1062	CENPE	OMIM:616051
HP:0000347	Micrognathia	5116	PCNT	ORPHA:808
HP:0000347	Micrognathia	79902	NUP85	ORPHA:808
HP:0000347	Micrognathia	84126	ATRIP	ORPHA:808
HP:0000347	Micrognathia	55835	CENPJ	ORPHA:808
HP:0000347	Micrognathia	10293	TRAIP	ORPHA:808
HP:0000347	Micrognathia	10293	TRAIP	OMIM:616777
HP:0000347	Micrognathia	22995	CEP152	ORPHA:808
HP:0000347	Micrognathia	22995	CEP152	OMIM:613823
HP:0000347	Micrognathia	1302	COL11A2	OMIM:614524
HP:0000347	Micrognathia	1302	COL11A2	ORPHA:1427
HP:0000347	Micrognathia	1302	COL11A2	ORPHA:166100
HP:0000347	Micrognathia	1302	COL11A2	OMIM:215150
HP:0000347	Micrognathia	9321	TRIP11	ORPHA:93299
HP:0000347	Micrognathia	80324	PUS1	ORPHA:2598
HP:0000347	Micrognathia	80324	PUS1	OMIM:600462
HP:0000347	Micrognathia	51067	YARS2	ORPHA:2598
HP:0000347	Micrognathia	64324	NSD1	ORPHA:3447
HP:0000347	Micrognathia	8726	EED	ORPHA:3447
HP:0000347	Micrognathia	23512	SUZ12	ORPHA:3447
HP:0000347	Micrognathia	2146	EZH2	ORPHA:3447
HP:0000347	Micrognathia	28962	OSTM1	OMIM:259720
HP:0000347	Micrognathia	79228	THOC6	OMIM:613680
HP:0000347	Micrognathia	2303	FOXC2	OMIM:153400
HP:0000347	Micrognathia	7407	VARS1	OMIM:617802
HP:0000347	Micrognathia	196528	ARID2	OMIM:617808
HP:0000347	Micrognathia	8216	LZTR1	OMIM:605275
HP:0000347	Micrognathia	8216	LZTR1	ORPHA:648
HP:0000347	Micrognathia	56052	ALG1	OMIM:608540
HP:0000347	Micrognathia	10075	HUWE1	OMIM:309590
HP:0000347	Micrognathia	10159	ATP6AP2	OMIM:301045
HP:0000347	Micrognathia	91949	COG7	OMIM:608779
HP:0000347	Micrognathia	91949	COG7	ORPHA:79333
HP:0000347	Micrognathia	10735	STAG2	OMIM:301043
HP:0000347	Micrognathia	10735	STAG2	OMIM:301022
HP:0000347	Micrognathia	27238	GPKOW	ORPHA:2570
HP:0000347	Micrognathia	22856	CHSY1	ORPHA:363417
HP:0000347	Micrognathia	2733	GLE1	ORPHA:1486
HP:0000347	Micrognathia	2733	GLE1	OMIM:253310
HP:0000347	Micrognathia	2733	GLE1	OMIM:611890
HP:0000347	Micrognathia	79650	USB1	OMIM:604173
HP:0000347	Micrognathia	4854	NOTCH3	OMIM:130720
HP:0000347	Micrognathia	4854	NOTCH3	ORPHA:2789
HP:0000347	Micrognathia	84162	BLTP1	OMIM:617822
HP:0000347	Micrognathia	23291	FBXW11	OMIM:618914
HP:0000347	Micrognathia	10982	MAPRE2	OMIM:616734
HP:0000347	Micrognathia	10982	MAPRE2	ORPHA:2505
HP:0000347	Micrognathia	2067	ERCC1	ORPHA:1466
HP:0000347	Micrognathia	2067	ERCC1	OMIM:610758
HP:0000347	Micrognathia	2074	ERCC6	ORPHA:1466
HP:0000347	Micrognathia	2074	ERCC6	OMIM:214150
HP:0000347	Micrognathia	57211	ADGRG6	OMIM:616503
HP:0000347	Micrognathia	259232	NALCN	OMIM:615419
HP:0000347	Micrognathia	259232	NALCN	OMIM:616266
HP:0000347	Micrognathia	259232	NALCN	ORPHA:1147
HP:0000347	Micrognathia	259232	NALCN	ORPHA:371364
HP:0000347	Micrognathia	81620	CDT1	ORPHA:2554
HP:0000347	Micrognathia	81620	CDT1	OMIM:613804
HP:0000347	Micrognathia	5000	ORC4	ORPHA:2554
HP:0000347	Micrognathia	5000	ORC4	OMIM:613800
HP:0000347	Micrognathia	8318	CDC45	ORPHA:2554
HP:0000347	Micrognathia	990	CDC6	ORPHA:2554
HP:0000347	Micrognathia	990	CDC6	OMIM:613805
HP:0000347	Micrognathia	54539	NDUFB11	ORPHA:2556
HP:0000347	Micrognathia	1349	COX7B	ORPHA:2556
HP:0000347	Micrognathia	3052	HCCS	ORPHA:2556
HP:0000347	Micrognathia	860	RUNX2	ORPHA:1452
HP:0000347	Micrognathia	860	RUNX2	OMIM:119600
HP:0000347	Micrognathia	5723	PSPH	ORPHA:79350
HP:0000347	Micrognathia	139285	AMER1	ORPHA:2780
HP:0000347	Micrognathia	139285	AMER1	OMIM:300373
HP:0000347	Micrognathia	6638	SNRPN	ORPHA:177907
HP:0000347	Micrognathia	9343	EFTUD2	ORPHA:79113
HP:0000347	Micrognathia	9343	EFTUD2	OMIM:610536
HP:0000347	Micrognathia	84172	POLR1B	OMIM:618939
HP:0000347	Micrognathia	84172	POLR1B	ORPHA:861
HP:0000347	Micrognathia	760	CA2	ORPHA:2785
HP:0000347	Micrognathia	23476	BRD4	ORPHA:199
HP:0000347	Micrognathia	9126	SMC3	ORPHA:199
HP:0000347	Micrognathia	9126	SMC3	OMIM:610759
HP:0000347	Micrognathia	5885	RAD21	ORPHA:199
HP:0000347	Micrognathia	157680	VPS13B	ORPHA:193
HP:0000347	Micrognathia	157680	VPS13B	OMIM:216550
HP:0000347	Micrognathia	9150	CTDP1	ORPHA:48431
HP:0000347	Micrognathia	1859	DYRK1A	OMIM:614104
HP:0000347	Micrognathia	1861	TOR1A	OMIM:618947
HP:0000347	Micrognathia	117581	TWIST2	OMIM:209885
HP:0000347	Micrognathia	9935	MAFB	ORPHA:2774
HP:0000347	Micrognathia	9935	MAFB	ORPHA:233
HP:0000347	Micrognathia	9935	MAFB	OMIM:166300
HP:0000347	Micrognathia	5297	PI4KA	OMIM:616531
HP:0000347	Micrognathia	5297	PI4KA	ORPHA:98889
HP:0000347	Micrognathia	5297	PI4KA	OMIM:619708
HP:0000347	Micrognathia	112752	IFT43	OMIM:617866
HP:0000347	Micrognathia	112752	IFT43	OMIM:614099
HP:0000347	Micrognathia	113246	C12orf57	OMIM:218340
HP:0000347	Micrognathia	84700	MYO18B	OMIM:616549
HP:0000347	Micrognathia	4621	MYH3	ORPHA:2990
HP:0000347	Micrognathia	4621	MYH3	ORPHA:1147
HP:0000347	Micrognathia	1146	CHRNG	ORPHA:2990
HP:0000347	Micrognathia	1146	CHRNG	OMIM:265000
HP:0000347	Micrognathia	1146	CHRNG	OMIM:253290
HP:0000347	Micrognathia	9939	RBM8A	OMIM:274000
HP:0000347	Micrognathia	9939	RBM8A	ORPHA:3320
HP:0000347	Micrognathia	7473	WNT3	OMIM:273395
HP:0000347	Micrognathia	7473	WNT3	ORPHA:3301
HP:0000347	Micrognathia	4750	NEK1	ORPHA:2751
HP:0000347	Micrognathia	25782	RAB3GAP2	ORPHA:2510
HP:0000347	Micrognathia	25782	RAB3GAP2	OMIM:212720
HP:0000347	Micrognathia	25782	RAB3GAP2	ORPHA:1387
HP:0000347	Micrognathia	22931	RAB18	ORPHA:2510
HP:0000347	Micrognathia	22931	RAB18	OMIM:614222
HP:0000347	Micrognathia	128637	TBC1D20	ORPHA:2510
HP:0000347	Micrognathia	71	ACTG1	ORPHA:2995
HP:0000347	Micrognathia	60	ACTB	ORPHA:2995
HP:0000347	Micrognathia	10210	TOPORS	ORPHA:2754
HP:0000347	Micrognathia	9851	KIAA0753	ORPHA:2754
HP:0000347	Micrognathia	5147	PDE6D	ORPHA:2754
HP:0000347	Micrognathia	317662	FAM149B1	ORPHA:2754
HP:0000347	Micrognathia	55553	SOX6	OMIM:618971
HP:0000347	Micrognathia	1806	DPYD	ORPHA:293948
HP:0000347	Micrognathia	4281	MID1	ORPHA:2745
HP:0000347	Micrognathia	8398	PLA2G6	OMIM:256600
HP:0000347	Micrognathia	246329	STAC3	OMIM:255995
HP:0000347	Micrognathia	246329	STAC3	ORPHA:168572
HP:0000347	Micrognathia	1278	COL1A2	ORPHA:1899
HP:0000347	Micrognathia	1278	COL1A2	OMIM:259420
HP:0000347	Micrognathia	1277	COL1A1	ORPHA:1899
HP:0000347	Micrognathia	1277	COL1A1	OMIM:259420
HP:0000347	Micrognathia	3762	KCNJ5	ORPHA:37553
HP:0000347	Micrognathia	2137	EXTL3	ORPHA:508533
HP:0000347	Micrognathia	7528	YY1	ORPHA:506358
HP:0000347	Micrognathia	7528	YY1	OMIM:617557
HP:0000347	Micrognathia	23141	ANKLE2	OMIM:616681
HP:0000347	Micrognathia	8294	H4C9	OMIM:619951
HP:0000347	Micrognathia	83932	SPRTN	OMIM:616200
HP:0000347	Micrognathia	8425	LTBP4	OMIM:613177
HP:0000347	Micrognathia	5830	PEX5	OMIM:214110
HP:0000347	Micrognathia	5830	PEX5	ORPHA:912
HP:0000347	Micrognathia	64220	STRA6	OMIM:601186
HP:0000347	Micrognathia	9786	KIAA0586	ORPHA:397715
HP:0000347	Micrognathia	3020	H3-3A	OMIM:619720
HP:0000347	Micrognathia	1723	DHODH	OMIM:263750
HP:0000347	Micrognathia	1723	DHODH	ORPHA:246
HP:0000347	Micrognathia	72	ACTG2	ORPHA:2604
HP:0000347	Micrognathia	2201	FBN2	OMIM:121050
HP:0000347	Micrognathia	129563	DIS3L2	ORPHA:2849
HP:0000347	Micrognathia	129563	DIS3L2	OMIM:267000
HP:0000347	Micrognathia	4286	MITF	OMIM:617306
HP:0000347	Micrognathia	5189	PEX1	OMIM:214100
HP:0000347	Micrognathia	5189	PEX1	ORPHA:912
HP:0000347	Micrognathia	716	C1S	ORPHA:75392
HP:0000347	Micrognathia	715	C1R	ORPHA:75392
HP:0000347	Micrognathia	25885	POLR1A	OMIM:616462
HP:0000347	Micrognathia	4853	NOTCH2	OMIM:102500
HP:0000347	Micrognathia	4853	NOTCH2	ORPHA:955
HP:0000347	Micrognathia	10381	TUBB3	ORPHA:300570
HP:0000347	Micrognathia	4920	ROR2	ORPHA:1507
HP:0000347	Micrognathia	4920	ROR2	OMIM:268310
HP:0000347	Micrognathia	2626	GATA4	ORPHA:251071
HP:0000347	Micrognathia	7020	TFAP2A	OMIM:113620
HP:0000347	Micrognathia	652	BMP4	OMIM:607932
HP:0000347	Micrognathia	54872	PIGG	ORPHA:280
HP:0000347	Micrognathia	7469	NELFA	ORPHA:280
HP:0000347	Micrognathia	22872	SEC31A	OMIM:618651
HP:0000347	Micrognathia	4763	NF1	ORPHA:363700
HP:0000347	Micrognathia	5424	POLD1	OMIM:615381
HP:0000347	Micrognathia	57498	KIDINS220	OMIM:619501
HP:0000347	Micrognathia	4174	MCM5	OMIM:617564
HP:0000347	Micrognathia	57178	ZMIZ1	OMIM:618659
HP:0000347	Micrognathia	2783	GNB2	OMIM:619503
HP:0000347	Micrognathia	8241	RBM10	OMIM:311900
HP:0000347	Micrognathia	8241	RBM10	ORPHA:2886
HP:0000347	Micrognathia	57167	SALL4	ORPHA:233
HP:0000347	Micrognathia	1123	CHN1	ORPHA:233
HP:0000347	Micrognathia	1789	DNMT3B	OMIM:242860
HP:0000347	Micrognathia	1789	DNMT3B	ORPHA:2268
HP:0000347	Micrognathia	54888	NSUN2	ORPHA:235
HP:0000347	Micrognathia	1182	CLCN3	OMIM:619512
HP:0000347	Micrognathia	63895	PIEZO2	OMIM:114300
HP:0000347	Micrognathia	63895	PIEZO2	OMIM:248700
HP:0000347	Micrognathia	63895	PIEZO2	ORPHA:2461
HP:0000347	Micrognathia	54914	FOCAD	OMIM:619991
HP:0000347	Micrognathia	55699	IARS2	OMIM:616007
HP:0000347	Micrognathia	286	ANK1	ORPHA:251066
HP:0000347	Micrognathia	145258	GSC	OMIM:602471
HP:0000347	Micrognathia	2248	FGF3	OMIM:610706
HP:0000347	Micrognathia	2248	FGF3	ORPHA:90024
HP:0000347	Micrognathia	54928	BPNT2	OMIM:614078
HP:0000347	Micrognathia	53335	BCL11A	OMIM:617101
HP:0000347	Micrognathia	9928	KIF14	OMIM:616258
HP:0000347	Micrognathia	2542	SLC37A4	OMIM:619525
HP:0000347	Micrognathia	57492	ARID1B	ORPHA:251056
HP:0000347	Micrognathia	2556	GABRA3	OMIM:301091
HP:0000347	Micrognathia	4626	MYH8	OMIM:158300
HP:0000347	Micrognathia	57724	EPG5	OMIM:242840
HP:0000347	Micrognathia	23162	MAPK8IP3	OMIM:618443
HP:0000347	Micrognathia	4123	MAN2C1	OMIM:619775
HP:0000347	Micrognathia	8218	CLTCL1	ORPHA:453510
HP:0000347	Micrognathia	23219	FBXO28	OMIM:619777
HP:0000347	Micrognathia	9496	TBX4	OMIM:147891
HP:0000347	Micrognathia	79087	ALG12	ORPHA:79324
HP:0000347	Micrognathia	8295	TRRAP	OMIM:618454
HP:0000347	Micrognathia	81570	CLPB	OMIM:616271
HP:0000347	Micrognathia	3763	KCNJ6	OMIM:614098
HP:0000347	Micrognathia	3763	KCNJ6	ORPHA:435628
HP:0000347	Micrognathia	9533	POLR1C	OMIM:248390
HP:0000347	Micrognathia	9533	POLR1C	ORPHA:861
HP:0000347	Micrognathia	29968	PSAT1	OMIM:616038
HP:0000347	Micrognathia	29968	PSAT1	ORPHA:284417
HP:0000347	Micrognathia	58497	PRUNE1	ORPHA:544469
HP:0000347	Micrognathia	5062	PAK2	OMIM:618458
HP:0000347	Micrognathia	23013	SPEN	OMIM:619312
HP:0000347	Micrognathia	54892	NCAPG2	OMIM:618460
HP:0000347	Micrognathia	8506	CNTNAP1	OMIM:616286
HP:0000347	Micrognathia	8506	CNTNAP1	OMIM:618186
HP:0000347	Micrognathia	221496	LEMD2	OMIM:619322
HP:0000347	Micrognathia	29998	BICRA	OMIM:619325
HP:0000347	Micrognathia	23030	KDM4B	OMIM:619320
HP:0000347	Micrognathia	1363	CPE	OMIM:619326
HP:0000347	Micrognathia	1289	COL5A1	OMIM:619329
HP:0000347	Micrognathia	6904	TBCD	ORPHA:496641
HP:0000347	Micrognathia	6904	TBCD	OMIM:617193
HP:0000347	Micrognathia	170302	ARX	ORPHA:452
HP:0000347	Micrognathia	170302	ARX	OMIM:300215
HP:0000347	Micrognathia	23221	RHOBTB2	OMIM:618004
HP:0000347	Micrognathia	10082	GPC6	OMIM:258315
HP:0000347	Micrognathia	10082	GPC6	ORPHA:93329
HP:0000347	Micrognathia	1147	CHUK	OMIM:619339
HP:0000347	Micrognathia	9719	ADAMTSL2	ORPHA:1901
HP:0000347	Micrognathia	9509	ADAMTS2	ORPHA:1901
HP:0000347	Micrognathia	9509	ADAMTS2	OMIM:225410
HP:0000347	Micrognathia	3481	IGF2	OMIM:180860
HP:0000347	Micrognathia	3481	IGF2	ORPHA:397590
HP:0000347	Micrognathia	8091	HMGA2	ORPHA:94063
HP:0000347	Micrognathia	8091	HMGA2	ORPHA:397590
HP:0000347	Micrognathia	23592	LEMD3	ORPHA:94063
HP:0000347	Micrognathia	26276	VPS33B	OMIM:208085
HP:0000347	Micrognathia	372	ARCN1	OMIM:617164
HP:0000347	Micrognathia	3977	LIFR	OMIM:601559
HP:0000347	Micrognathia	5277	PIGA	OMIM:300868
HP:0000347	Micrognathia	5144	PDE4D	ORPHA:439822
HP:0000347	Micrognathia	23384	SPECC1L	OMIM:145420
HP:0000347	Micrognathia	9244	CRLF1	OMIM:272430
HP:0000347	Micrognathia	9244	CRLF1	ORPHA:1545
HP:0000347	Micrognathia	9791	PTDSS1	OMIM:151050
HP:0000347	Micrognathia	80347	COASY	OMIM:618266
HP:0000347	Micrognathia	5281	PIGF	OMIM:619356
HP:0000347	Micrognathia	51604	PIGT	ORPHA:369837
HP:0000347	Micrognathia	145173	B3GLCT	OMIM:261540
HP:0000347	Micrognathia	145173	B3GLCT	ORPHA:709
HP:0000347	Micrognathia	5530	PPP3CA	OMIM:618265
HP:0000347	Micrognathia	5530	PPP3CA	OMIM:617711
HP:0000347	Micrognathia	2132	EXT2	ORPHA:52022
HP:0000347	Micrognathia	60529	ALX4	ORPHA:52022
HP:0000347	Micrognathia	51317	PHF21A	ORPHA:52022
HP:0000347	Micrognathia	23405	DICER1	OMIM:618272
HP:0000347	Micrognathia	285590	SH3PXD2B	OMIM:249420
HP:0000347	Micrognathia	51715	RAB23	OMIM:201000
HP:0000347	Micrognathia	10651	MTX2	OMIM:619127
HP:0000347	Micrognathia	29123	ANKRD11	ORPHA:261250
HP:0000347	Micrognathia	10220	GDF11	OMIM:619122
HP:0000347	Micrognathia	90416	CCDC32	OMIM:619123
HP:0000347	Micrognathia	5080	PAX6	ORPHA:893
HP:0000347	Micrognathia	627	BDNF	ORPHA:893
HP:0000347	Micrognathia	7490	WT1	ORPHA:893
HP:0000347	Micrognathia	84905	ZNF341	OMIM:618282
HP:0000347	Micrognathia	57020	VPS35L	OMIM:619135
HP:0000347	Micrognathia	1984	EIF5A	OMIM:619376
HP:0000347	Micrognathia	5236	PGM1	OMIM:614921
HP:0000347	Micrognathia	3295	HSD17B4	OMIM:261515
HP:0000347	Micrognathia	22800	RRAS2	ORPHA:648
HP:0000347	Micrognathia	867	CBL	ORPHA:648
HP:0000347	Micrognathia	6016	RIT1	ORPHA:648
HP:0000347	Micrognathia	6237	RRAS	ORPHA:648
HP:0000347	Micrognathia	5894	RAF1	ORPHA:648
HP:0000347	Micrognathia	22808	MRAS	ORPHA:648
HP:0000347	Micrognathia	3845	KRAS	ORPHA:648
HP:0000347	Micrognathia	200734	SPRED2	ORPHA:648
HP:0000347	Micrognathia	4893	NRAS	ORPHA:648
HP:0000347	Micrognathia	6654	SOS1	ORPHA:648
HP:0000347	Micrognathia	6655	SOS2	ORPHA:648
HP:0000347	Micrognathia	5781	PTPN11	ORPHA:648
HP:0000347	Micrognathia	5781	PTPN11	OMIM:163950
HP:0000347	Micrognathia	5922	RASA2	ORPHA:648
HP:0000347	Micrognathia	23299	BICD2	OMIM:618291
HP:0000347	Micrognathia	6913	TBX15	OMIM:260660
HP:0000347	Micrognathia	871	SERPINH1	OMIM:613848
HP:0000347	Micrognathia	3480	IGF1R	OMIM:270450
HP:0000347	Micrognathia	2690	GHR	ORPHA:633
HP:0000347	Micrognathia	121340	SP7	OMIM:613849
HP:0000347	Micrognathia	83483	PLVAP	OMIM:618183
HP:0000347	Micrognathia	10128	LRPPRC	OMIM:220111
HP:0000347	Micrognathia	199857	ALG14	OMIM:619036
HP:0000347	Micrognathia	775	CACNA1C	OMIM:620029
HP:0000347	Micrognathia	55624	POMGNT1	OMIM:253280
HP:0000347	Micrognathia	8854	ALDH1A2	OMIM:620025
HP:0000347	Micrognathia	10274	STAG1	ORPHA:502434
HP:0000347	Micrognathia	10992	SF3B2	OMIM:164210
HP:0000347	Micrognathia	2629	GBA1	OMIM:608013
HP:0000347	Micrognathia	23118	TAB2	ORPHA:228410
HP:0000347	Micrognathia	8443	GNPAT	OMIM:222765
HP:0000347	Micrognathia	58	ACTA1	ORPHA:171436
HP:0000347	Micrognathia	58	ACTA1	ORPHA:2020
HP:0000347	Micrognathia	58	ACTA1	ORPHA:171439
HP:0000347	Micrognathia	7169	TPM2	ORPHA:171436
HP:0000347	Micrognathia	7169	TPM2	ORPHA:2020
HP:0000347	Micrognathia	7169	TPM2	ORPHA:1147
HP:0000347	Micrognathia	7169	TPM2	ORPHA:171439
HP:0000347	Micrognathia	4703	NEB	ORPHA:171436
HP:0000347	Micrognathia	4703	NEB	ORPHA:171439
HP:0000347	Micrognathia	10324	KLHL41	ORPHA:171436
HP:0000347	Micrognathia	10324	KLHL41	OMIM:615731
HP:0000347	Micrognathia	10324	KLHL41	ORPHA:171439
HP:0000347	Micrognathia	56203	LMOD3	ORPHA:171436
HP:0000347	Micrognathia	1073	CFL2	ORPHA:171436
HP:0000347	Micrognathia	22858	CILK1	OMIM:612651
HP:0000347	Micrognathia	3899	AFF3	OMIM:619297
HP:0000347	Micrognathia	3483	IGFALS	ORPHA:140941
HP:0000347	Micrognathia	283989	TSEN54	ORPHA:166063
HP:0000347	Micrognathia	4633	MYL2	ORPHA:2020
HP:0000347	Micrognathia	3679	ITGA7	ORPHA:2020
HP:0000347	Micrognathia	9200	HACD1	ORPHA:2020
HP:0000347	Micrognathia	7170	TPM3	ORPHA:2020
HP:0000347	Micrognathia	7170	TPM3	ORPHA:171439
HP:0000347	Micrognathia	51776	MAP3K20	ORPHA:2020
HP:0000347	Micrognathia	3070	HELLS	ORPHA:2268
HP:0000347	Micrognathia	83879	CDCA7	ORPHA:2268
HP:0000347	Micrognathia	9841	ZBTB24	ORPHA:2268
HP:0000347	Micrognathia	3265	HRAS	OMIM:218040
HP:0000347	Micrognathia	5826	ABCD4	OMIM:614857
HP:0000347	Micrognathia	26227	PHGDH	OMIM:256520
HP:0000347	Micrognathia	2615	LRRC32	OMIM:619074
HP:0000347	Micrognathia	1857	DVL3	ORPHA:3107
HP:0000347	Micrognathia	1857	DVL3	OMIM:616894
HP:0000347	Micrognathia	5828	PEX2	OMIM:614866
HP:0000347	Micrognathia	5828	PEX2	ORPHA:912
HP:0000347	Micrognathia	6804	STX1A	ORPHA:904
HP:0000347	Micrognathia	7461	CLIP2	ORPHA:904
HP:0000347	Micrognathia	84277	DNAJC30	ORPHA:904
HP:0000347	Micrognathia	8468	FKBP6	ORPHA:904
HP:0000347	Micrognathia	5982	RFC2	ORPHA:904
HP:0000347	Micrognathia	2969	GTF2I	ORPHA:904
HP:0000347	Micrognathia	3984	LIMK1	ORPHA:904
HP:0000347	Micrognathia	9569	GTF2IRD1	ORPHA:904
HP:0000347	Micrognathia	155382	VPS37D	ORPHA:904
HP:0000347	Micrognathia	155368	METTL27	ORPHA:904
HP:0000347	Micrognathia	114049	BUD23	ORPHA:904
HP:0000347	Micrognathia	7458	EIF4H	ORPHA:904
HP:0000347	Micrognathia	84163	GTF2IRD2	ORPHA:904
HP:0000347	Micrognathia	9275	BCL7B	ORPHA:904
HP:0000347	Micrognathia	26608	TBL2	ORPHA:904
HP:0000347	Micrognathia	653361	NCF1	ORPHA:904
HP:0000347	Micrognathia	135886	TMEM270	ORPHA:904
HP:0000347	Micrognathia	51085	MLXIPL	ORPHA:904
HP:0000347	Micrognathia	9031	BAZ1B	ORPHA:904
HP:0000347	Micrognathia	2006	ELN	ORPHA:904
HP:0000347	Micrognathia	10290	SPEG	OMIM:615959
HP:0000347	Micrognathia	9289	ADGRG1	ORPHA:98889
HP:0000347	Micrognathia	27286	SRPX2	ORPHA:98889
HP:0000347	Micrognathia	157570	ESCO2	ORPHA:3103
HP:0000347	Micrognathia	157570	ESCO2	OMIM:268300
HP:0000347	Micrognathia	55027	HEATR3	OMIM:620072
HP:0000347	Micrognathia	10236	HNRNPR	OMIM:620073
HP:0000347	Micrognathia	51611	DPH5	OMIM:620070
HP:0000347	Micrognathia	5700	PSMC1	OMIM:620071
HP:0000347	Micrognathia	728294	D2HGDH	OMIM:600721
HP:0000347	Micrognathia	2138	EYA1	ORPHA:52429
HP:0000347	Micrognathia	6495	SIX1	ORPHA:52429
HP:0000347	Micrognathia	6628	SNRPB	ORPHA:1393
HP:0000347	Micrognathia	6628	SNRPB	OMIM:117650
HP:0000347	Micrognathia	5159	PDGFRB	OMIM:601812
HP:0000347	Micrognathia	5594	MAPK1	OMIM:619087
HP:0000347	Micrognathia	1028	CDKN1C	ORPHA:397590
HP:0000347	Micrognathia	5324	PLAG1	ORPHA:397590
HP:0000347	Micrognathia	2065	ERBB3	OMIM:607598
HP:0000347	Micrognathia	23065	EMC1	ORPHA:480898
HP:0000347	Micrognathia	23065	EMC1	OMIM:616875
HP:0000347	Micrognathia	5295	PIK3R1	OMIM:269880
HP:0000347	Micrognathia	81031	SLC2A10	OMIM:208050
HP:0000347	Micrognathia	7140	TNNT3	ORPHA:1147
HP:0000347	Micrognathia	8504	PEX3	OMIM:614882
HP:0000347	Micrognathia	8504	PEX3	ORPHA:912
HP:0000347	Micrognathia	84665	MYPN	ORPHA:171439
HP:0000347	Micrognathia	390594	KBTBD13	ORPHA:171439
HP:0000347	Micrognathia	50628	GEMIN4	OMIM:617913
HP:0000347	Micrognathia	84570	COL25A1	ORPHA:1143
HP:0000347	Micrognathia	57222	ERGIC1	ORPHA:1143
HP:0000347	Micrognathia	5195	PEX14	OMIM:614887
HP:0000347	Micrognathia	5195	PEX14	ORPHA:912
HP:0000347	Micrognathia	4313	MMP2	OMIM:259600
HP:0000347	Micrognathia	2702	GJA5	OMIM:612474
HP:0000347	Micrognathia	2703	GJA8	OMIM:612474
HP:0000347	Micrognathia	27152	INTU	OMIM:617925
HP:0000347	Micrognathia	1297	COL9A1	ORPHA:250984
HP:0000347	Micrognathia	1298	COL9A2	ORPHA:250984
HP:0000347	Micrognathia	1299	COL9A3	ORPHA:250984
HP:0000347	Micrognathia	84695	LOXL3	ORPHA:250984
HP:0000347	Micrognathia	1144	CHRND	OMIM:253290
HP:0000347	Micrognathia	6497	SKI	ORPHA:2462
HP:0000347	Micrognathia	6497	SKI	OMIM:182212
HP:0000347	Micrognathia	55670	PEX26	ORPHA:912
HP:0000347	Micrognathia	5824	PEX19	ORPHA:912
HP:0000347	Micrognathia	8799	PEX11B	ORPHA:912
HP:0000347	Micrognathia	9409	PEX16	ORPHA:912
HP:0000347	Micrognathia	5190	PEX6	ORPHA:912
HP:0000347	Micrognathia	5193	PEX12	ORPHA:912
HP:0000347	Micrognathia	5194	PEX13	ORPHA:912
HP:0000347	Micrognathia	5192	PEX10	ORPHA:912
HP:0000347	Micrognathia	4038	LRP4	OMIM:212780
HP:0000347	Micrognathia	9780	PIEZO1	OMIM:616843
HP:0000347	Micrognathia	4683	NBN	OMIM:251260
HP:0000347	Micrognathia	100151683	RNU4ATAC	OMIM:210710
HP:0000347	Micrognathia	100151683	RNU4ATAC	ORPHA:2636
HP:0000347	Micrognathia	85358	SHANK3	OMIM:606232
HP:0000347	Micrognathia	91179	SCARF2	OMIM:600920
HP:0000347	Micrognathia	113179	ADAT3	ORPHA:363528
HP:0000347	Micrognathia	10525	HYOU1	OMIM:233600
HP:0000347	Micrognathia	55784	MCTP2	ORPHA:1596
HP:0000347	Micrognathia	30008	EFEMP2	OMIM:614437
HP:0000347	Micrognathia	91869	RFT1	OMIM:612015
HP:0000347	Micrognathia	5915	RARB	OMIM:615524
HP:0000347	Micrognathia	5053	PAH	ORPHA:2209
HP:0000347	Micrognathia	4297	KMT2A	OMIM:605130
HP:0000347	Micrognathia	101929726	MYMX	ORPHA:1358
HP:0000347	Micrognathia	101929726	MYMX	OMIM:619941
HP:0000347	Micrognathia	4204	MECP2	OMIM:300055
HP:0000347	Micrognathia	10265	IRX5	OMIM:611174
HP:0000347	Micrognathia	5925	RB1	ORPHA:1587
HP:0000347	Micrognathia	55603	TENT5A	OMIM:617952
HP:0000347	Micrognathia	1063	CENPF	OMIM:243605
HP:0000347	Micrognathia	64093	SMOC1	ORPHA:1106
HP:0000347	Micrognathia	91647	ATPAF2	OMIM:604273
HP:0000347	Micrognathia	5718	PSMD12	ORPHA:529962
HP:0000347	Micrognathia	5718	PSMD12	OMIM:617516
HP:0000347	Micrognathia	2186	BPTF	ORPHA:529962
HP:0000347	Micrognathia	2186	BPTF	OMIM:617755
HP:0000347	Micrognathia	84342	COG8	OMIM:611182
HP:0000347	Micrognathia	57572	DOCK6	OMIM:614219
HP:0000347	Micrognathia	29980	DONSON	OMIM:251230
HP:0000347	Micrognathia	23233	EXOC6B	ORPHA:93359
HP:0000347	Micrognathia	29957	SLC25A24	OMIM:612289
HP:0000347	Micrognathia	4659	PPP1R12A	OMIM:618820
HP:0000347	Micrognathia	91461	PKDCC	OMIM:618821
HP:0000347	Micrognathia	285175	UNC80	ORPHA:371364
HP:0000347	Micrognathia	8405	SPOP	OMIM:618829
HP:0000347	Micrognathia	2260	FGFR1	ORPHA:2645
HP:0000347	Micrognathia	202018	TAPT1	OMIM:616897
HP:0000347	Micrognathia	7291	TWIST1	OMIM:617746
HP:0000347	Micrognathia	2767	GNA11	ORPHA:1556
HP:0000347	Micrognathia	151188	ARL6IP6	ORPHA:1556
HP:0000347	Micrognathia	440	ASNS	OMIM:615574
HP:0000347	Micrognathia	55023	PHIP	OMIM:617991
HP:0000347	Micrognathia	3664	IRF6	ORPHA:1300
HP:0000347	Micrognathia	7476	WNT7A	ORPHA:2879
HP:0000347	Micrognathia	4848	CNOT2	OMIM:618608
HP:0000347	Micrognathia	23529	CLCF1	ORPHA:1545
HP:0000347	Micrognathia	221927	BRAT1	OMIM:614498
HP:0000347	Micrognathia	6736	SRY	ORPHA:1772
HP:0000347	Micrognathia	5290	PIK3CA	OMIM:615108
HP:0000347	Micrognathia	207	AKT1	OMIM:615109
HP:0000347	Micrognathia	5604	MAP2K1	OMIM:163950
HP:0000347	Micrognathia	3759	KCNJ2	OMIM:170390
HP:0000347	Micrognathia	3166	HMX1	OMIM:612109
HP:0000347	Micrognathia	5332	PLCB4	OMIM:614669
HP:0000347	Micrognathia	5332	PLCB4	ORPHA:137888
HP:0000347	Micrognathia	1906	EDN1	ORPHA:137888
HP:0000347	Micrognathia	2773	GNAI3	ORPHA:137888
HP:0000347	Micrognathia	2773	GNAI3	OMIM:602483
HP:0000347	Micrognathia	404672	GTF2H5	ORPHA:33364
HP:0000347	Micrognathia	833	CARS1	ORPHA:33364
HP:0000347	Micrognathia	2068	ERCC2	ORPHA:33364
HP:0000347	Micrognathia	7737	RNF113A	ORPHA:33364
HP:0000347	Micrognathia	136647	MPLKIP	ORPHA:33364
HP:0000347	Micrognathia	6897	TARS1	ORPHA:33364
HP:0000347	Micrognathia	2071	ERCC3	ORPHA:33364
HP:0000347	Micrognathia	2961	GTF2E2	ORPHA:33364
HP:0002006	Facial cleft	10584	COLEC10	OMIM:248340
HP:0002006	Facial cleft	8092	ALX1	ORPHA:306542
HP:0002006	Facial cleft	8092	ALX1	OMIM:613456
HP:0002006	Facial cleft	80144	FRAS1	OMIM:219000
HP:0002006	Facial cleft	84172	POLR1B	ORPHA:861
HP:0002006	Facial cleft	9533	POLR1C	ORPHA:861
HP:0002006	Facial cleft	51082	POLR1D	ORPHA:861
HP:0002006	Facial cleft	6949	TCOF1	ORPHA:861
HP:0002006	Facial cleft	55112	DYNC2I1	ORPHA:93271
HP:0002006	Facial cleft	57560	IFT80	ORPHA:93271
HP:0002006	Facial cleft	57539	WDR35	ORPHA:93271
HP:0002006	Facial cleft	79659	DYNC2H1	ORPHA:93271
HP:0002006	Facial cleft	89891	DYNC2I2	ORPHA:93271
HP:0002006	Facial cleft	54101	RIPK4	OMIM:263650
HP:0002006	Facial cleft	2121	EVC	ORPHA:952
HP:0002006	Facial cleft	132884	EVC2	ORPHA:952
HP:0002006	Facial cleft	23384	SPECC1L	OMIM:600251
HP:0002006	Facial cleft	60529	ALX4	OMIM:613451
HP:0002006	Facial cleft	57688	ZSWIM6	OMIM:603671
HP:0002006	Facial cleft	10992	SF3B2	OMIM:164210
HP:0002007	Frontal bossing	2137	EXTL3	ORPHA:508533
HP:0002007	Frontal bossing	1718	DHCR24	OMIM:602398
HP:0002007	Frontal bossing	1718	DHCR24	ORPHA:35107
HP:0002007	Frontal bossing	1497	CTNS	OMIM:219800
HP:0002007	Frontal bossing	11253	MAN1B1	ORPHA:397941
HP:0002007	Frontal bossing	1139	CHRNA7	ORPHA:199318
HP:0002007	Frontal bossing	5728	PTEN	OMIM:605309
HP:0002007	Frontal bossing	5728	PTEN	ORPHA:109
HP:0002007	Frontal bossing	5728	PTEN	ORPHA:79076
HP:0002007	Frontal bossing	83932	SPRTN	OMIM:616200
HP:0002007	Frontal bossing	3265	HRAS	ORPHA:2612
HP:0002007	Frontal bossing	3845	KRAS	ORPHA:2612
HP:0002007	Frontal bossing	3845	KRAS	ORPHA:1340
HP:0002007	Frontal bossing	3845	KRAS	OMIM:609942
HP:0002007	Frontal bossing	4893	NRAS	ORPHA:2612
HP:0002007	Frontal bossing	7291	TWIST1	OMIM:123100
HP:0002007	Frontal bossing	7291	TWIST1	ORPHA:35093
HP:0002007	Frontal bossing	1947	EFNB1	ORPHA:1520
HP:0002007	Frontal bossing	1947	EFNB1	OMIM:304110
HP:0002007	Frontal bossing	9820	CUL7	ORPHA:2616
HP:0002007	Frontal bossing	9820	CUL7	OMIM:273750
HP:0002007	Frontal bossing	23363	OBSL1	ORPHA:2616
HP:0002007	Frontal bossing	23363	OBSL1	OMIM:612921
HP:0002007	Frontal bossing	83987	CCDC8	ORPHA:2616
HP:0002007	Frontal bossing	83987	CCDC8	OMIM:614205
HP:0002007	Frontal bossing	7360	UGP2	OMIM:618744
HP:0002007	Frontal bossing	79848	CSPP1	ORPHA:397715
HP:0002007	Frontal bossing	9786	KIAA0586	ORPHA:397715
HP:0002007	Frontal bossing	267010	RNU12	OMIM:603116
HP:0002007	Frontal bossing	9578	CDC42BPB	OMIM:619841
HP:0002007	Frontal bossing	3020	H3-3A	OMIM:619720
HP:0002007	Frontal bossing	2737	GLI3	ORPHA:380
HP:0002007	Frontal bossing	2737	GLI3	OMIM:175700
HP:0002007	Frontal bossing	3021	H3-3B	OMIM:619721
HP:0002007	Frontal bossing	1855	DVL1	OMIM:616331
HP:0002007	Frontal bossing	1855	DVL1	OMIM:180700
HP:0002007	Frontal bossing	1855	DVL1	ORPHA:3107
HP:0002007	Frontal bossing	8942	KYNU	OMIM:617661
HP:0002007	Frontal bossing	55790	CSGALNACT1	OMIM:618870
HP:0002007	Frontal bossing	5830	PEX5	OMIM:202370
HP:0002007	Frontal bossing	2201	FBN2	OMIM:121050
HP:0002007	Frontal bossing	4286	MITF	OMIM:617306
HP:0002007	Frontal bossing	120227	CYP2R1	OMIM:600081
HP:0002007	Frontal bossing	120227	CYP2R1	ORPHA:289157
HP:0002007	Frontal bossing	57539	WDR35	ORPHA:1515
HP:0002007	Frontal bossing	57539	WDR35	OMIM:613610
HP:0002007	Frontal bossing	57539	WDR35	ORPHA:93271
HP:0002007	Frontal bossing	112752	IFT43	ORPHA:1515
HP:0002007	Frontal bossing	112752	IFT43	OMIM:614099
HP:0002007	Frontal bossing	51098	IFT52	ORPHA:1515
HP:0002007	Frontal bossing	55764	IFT122	ORPHA:1515
HP:0002007	Frontal bossing	55764	IFT122	OMIM:218330
HP:0002007	Frontal bossing	57728	WDR19	ORPHA:1515
HP:0002007	Frontal bossing	57728	WDR19	OMIM:614378
HP:0002007	Frontal bossing	57231	SNX14	ORPHA:397709
HP:0002007	Frontal bossing	50964	SOST	ORPHA:1513
HP:0002007	Frontal bossing	50964	SOST	OMIM:269500
HP:0002007	Frontal bossing	6660	SOX5	ORPHA:313892
HP:0002007	Frontal bossing	6660	SOX5	OMIM:616803
HP:0002007	Frontal bossing	1896	EDA	OMIM:305100
HP:0002007	Frontal bossing	1896	EDA	ORPHA:181
HP:0002007	Frontal bossing	54	ACP5	OMIM:607944
HP:0002007	Frontal bossing	1513	CTSK	OMIM:265800
HP:0002007	Frontal bossing	1513	CTSK	ORPHA:763
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:146000
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:1860
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:616482
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:15
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:93274
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:93262
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:100800
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:187601
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:187600
HP:0002007	Frontal bossing	64359	NXN	OMIM:618529
HP:0002007	Frontal bossing	64359	NXN	ORPHA:1507
HP:0002007	Frontal bossing	4920	ROR2	ORPHA:1507
HP:0002007	Frontal bossing	4920	ROR2	OMIM:268310
HP:0002007	Frontal bossing	5191	PEX7	OMIM:215100
HP:0002007	Frontal bossing	2035	EPB41	ORPHA:288
HP:0002007	Frontal bossing	2995	GYPC	ORPHA:288
HP:0002007	Frontal bossing	6710	SPTB	ORPHA:288
HP:0002007	Frontal bossing	6708	SPTA1	ORPHA:288
HP:0002007	Frontal bossing	10484	SEC23A	OMIM:607812
HP:0002007	Frontal bossing	10484	SEC23A	ORPHA:50814
HP:0002007	Frontal bossing	1105	CHD1	OMIM:617682
HP:0002007	Frontal bossing	1105	CHD1	ORPHA:529965
HP:0002007	Frontal bossing	10815	CPLX1	ORPHA:280
HP:0002007	Frontal bossing	54872	PIGG	ORPHA:280
HP:0002007	Frontal bossing	7469	NELFA	ORPHA:280
HP:0002007	Frontal bossing	1487	CTBP1	ORPHA:280
HP:0002007	Frontal bossing	1487	CTBP1	OMIM:617915
HP:0002007	Frontal bossing	3954	LETM1	ORPHA:280
HP:0002007	Frontal bossing	7468	NSD2	ORPHA:280
HP:0002007	Frontal bossing	1656	DDX6	OMIM:618653
HP:0002007	Frontal bossing	1594	CYP27B1	OMIM:264700
HP:0002007	Frontal bossing	1594	CYP27B1	ORPHA:289157
HP:0002007	Frontal bossing	1301	COL11A1	OMIM:228520
HP:0002007	Frontal bossing	1301	COL11A1	ORPHA:440354
HP:0002007	Frontal bossing	1301	COL11A1	ORPHA:560
HP:0002007	Frontal bossing	80776	B9D2	OMIM:614175
HP:0002007	Frontal bossing	5813	PURA	ORPHA:438216
HP:0002007	Frontal bossing	2783	GNB2	OMIM:619503
HP:0002007	Frontal bossing	6602	SMARCD1	OMIM:618779
HP:0002007	Frontal bossing	55623	THUMPD1	OMIM:619989
HP:0002007	Frontal bossing	26038	CHD5	OMIM:619873
HP:0002007	Frontal bossing	5034	P4HB	OMIM:112240
HP:0002007	Frontal bossing	5034	P4HB	ORPHA:2050
HP:0002007	Frontal bossing	1182	CLCN3	OMIM:619512
HP:0002007	Frontal bossing	3043	HBB	ORPHA:231214
HP:0002007	Frontal bossing	3043	HBB	ORPHA:231226
HP:0002007	Frontal bossing	6905	TBCE	OMIM:241410
HP:0002007	Frontal bossing	3590	IL11RA	OMIM:614188
HP:0002007	Frontal bossing	142680	SLC34A3	OMIM:241530
HP:0002007	Frontal bossing	57167	SALL4	OMIM:147750
HP:0002007	Frontal bossing	5048	PAFAH1B1	ORPHA:217385
HP:0002007	Frontal bossing	7531	YWHAE	ORPHA:217385
HP:0002007	Frontal bossing	3481	IGF2	OMIM:616489
HP:0002007	Frontal bossing	3481	IGF2	OMIM:180860
HP:0002007	Frontal bossing	3481	IGF2	ORPHA:397590
HP:0002007	Frontal bossing	92609	TIMM50	OMIM:617698
HP:0002007	Frontal bossing	3098	HK1	OMIM:618547
HP:0002007	Frontal bossing	5590	PRKCZ	ORPHA:1606
HP:0002007	Frontal bossing	2563	GABRD	ORPHA:1606
HP:0002007	Frontal bossing	23013	SPEN	ORPHA:1606
HP:0002007	Frontal bossing	23013	SPEN	OMIM:619312
HP:0002007	Frontal bossing	8510	MMP23B	ORPHA:1606
HP:0002007	Frontal bossing	7798	LUZP1	ORPHA:1606
HP:0002007	Frontal bossing	6497	SKI	ORPHA:1606
HP:0002007	Frontal bossing	6497	SKI	ORPHA:2462
HP:0002007	Frontal bossing	6497	SKI	OMIM:182212
HP:0002007	Frontal bossing	10630	PDPN	ORPHA:1606
HP:0002007	Frontal bossing	3339	HSPG2	ORPHA:1606
HP:0002007	Frontal bossing	10277	UBE4B	ORPHA:1606
HP:0002007	Frontal bossing	8514	KCNAB2	ORPHA:1606
HP:0002007	Frontal bossing	473	RERE	ORPHA:1606
HP:0002007	Frontal bossing	473	RERE	ORPHA:494344
HP:0002007	Frontal bossing	473	RERE	OMIM:616975
HP:0002007	Frontal bossing	63976	PRDM16	ORPHA:1606
HP:0002007	Frontal bossing	54897	CASZ1	ORPHA:1606
HP:0002007	Frontal bossing	5727	PTCH1	OMIM:610828
HP:0002007	Frontal bossing	5727	PTCH1	ORPHA:377
HP:0002007	Frontal bossing	5727	PTCH1	OMIM:109400
HP:0002007	Frontal bossing	79796	ALG9	ORPHA:79328
HP:0002007	Frontal bossing	79796	ALG9	OMIM:608776
HP:0002007	Frontal bossing	8314	BAP1	OMIM:619762
HP:0002007	Frontal bossing	83479	DDX59	ORPHA:2919
HP:0002007	Frontal bossing	83479	DDX59	OMIM:174300
HP:0002007	Frontal bossing	6942	TCF20	OMIM:618430
HP:0002007	Frontal bossing	9968	MED12	OMIM:305450
HP:0002007	Frontal bossing	9968	MED12	OMIM:309520
HP:0002007	Frontal bossing	2316	FLNA	OMIM:304120
HP:0002007	Frontal bossing	2316	FLNA	ORPHA:2484
HP:0002007	Frontal bossing	2316	FLNA	OMIM:311300
HP:0002007	Frontal bossing	2271	FH	OMIM:606812
HP:0002007	Frontal bossing	4488	MSX2	OMIM:604757
HP:0002007	Frontal bossing	8643	PTCH2	ORPHA:377
HP:0002007	Frontal bossing	51684	SUFU	ORPHA:377
HP:0002007	Frontal bossing	51684	SUFU	OMIM:617757
HP:0002007	Frontal bossing	23556	PIGN	OMIM:614080
HP:0002007	Frontal bossing	23007	PLCH1	OMIM:619895
HP:0002007	Frontal bossing	249	ALPL	OMIM:241510
HP:0002007	Frontal bossing	79989	IFT56	OMIM:619534
HP:0002007	Frontal bossing	84168	ANTXR1	OMIM:230740
HP:0002007	Frontal bossing	84168	ANTXR1	ORPHA:2067
HP:0002007	Frontal bossing	2260	FGFR1	OMIM:166250
HP:0002007	Frontal bossing	7994	KAT6A	OMIM:616268
HP:0002007	Frontal bossing	2720	GLB1	OMIM:230500
HP:0002007	Frontal bossing	2720	GLB1	ORPHA:79255
HP:0002007	Frontal bossing	3930	LBR	OMIM:169400
HP:0002007	Frontal bossing	3930	LBR	OMIM:618019
HP:0002007	Frontal bossing	1107	CHD3	OMIM:618205
HP:0002007	Frontal bossing	2317	FLNB	OMIM:272460
HP:0002007	Frontal bossing	2317	FLNB	OMIM:108721
HP:0002007	Frontal bossing	2317	FLNB	OMIM:108720
HP:0002007	Frontal bossing	2317	FLNB	OMIM:150250
HP:0002007	Frontal bossing	1749	DLX5	OMIM:220600
HP:0002007	Frontal bossing	27077	B9D1	OMIM:617120
HP:0002007	Frontal bossing	9742	IFT140	OMIM:266920
HP:0002007	Frontal bossing	60529	ALX4	ORPHA:228390
HP:0002007	Frontal bossing	60529	ALX4	ORPHA:35093
HP:0002007	Frontal bossing	26173	INTS1	OMIM:618571
HP:0002007	Frontal bossing	1523	CUX1	OMIM:618330
HP:0002007	Frontal bossing	5587	PRKD1	OMIM:617364
HP:0002007	Frontal bossing	5426	POLE	OMIM:618336
HP:0002007	Frontal bossing	5426	POLE	ORPHA:85173
HP:0002007	Frontal bossing	7227	TRPS1	ORPHA:77258
HP:0002007	Frontal bossing	4921	DDR2	OMIM:271665
HP:0002007	Frontal bossing	8925	HERC1	OMIM:617011
HP:0002007	Frontal bossing	54892	NCAPG2	OMIM:618460
HP:0002007	Frontal bossing	23314	SATB2	ORPHA:251028
HP:0002007	Frontal bossing	23314	SATB2	OMIM:612313
HP:0002007	Frontal bossing	51259	TMEM216	OMIM:608091
HP:0002007	Frontal bossing	51259	TMEM216	ORPHA:2754
HP:0002007	Frontal bossing	1277	COL1A1	OMIM:259420
HP:0002007	Frontal bossing	1278	COL1A2	OMIM:259420
HP:0002007	Frontal bossing	2263	FGFR2	OMIM:123500
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:207
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:87
HP:0002007	Frontal bossing	2263	FGFR2	OMIM:207410
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:1540
HP:0002007	Frontal bossing	7707	ZNF148	OMIM:617260
HP:0002007	Frontal bossing	29887	SNX10	OMIM:615085
HP:0002007	Frontal bossing	5515	PPP2CA	OMIM:618354
HP:0002007	Frontal bossing	1747	DLX3	OMIM:190320
HP:0002007	Frontal bossing	1747	DLX3	ORPHA:3352
HP:0002007	Frontal bossing	9871	SEC24D	OMIM:616294
HP:0002007	Frontal bossing	9871	SEC24D	ORPHA:2050
HP:0002007	Frontal bossing	29998	BICRA	OMIM:619325
HP:0002007	Frontal bossing	6651	SON	OMIM:617140
HP:0002007	Frontal bossing	6651	SON	ORPHA:500150
HP:0002007	Frontal bossing	4952	OCRL	ORPHA:534
HP:0002007	Frontal bossing	2710	GK	OMIM:307030
HP:0002007	Frontal bossing	9126	SMC3	OMIM:610759
HP:0002007	Frontal bossing	55777	MBD5	OMIM:156200
HP:0002007	Frontal bossing	4784	NFIX	OMIM:602535
HP:0002007	Frontal bossing	4784	NFIX	ORPHA:420179
HP:0002007	Frontal bossing	3039	HBA1	ORPHA:98791
HP:0002007	Frontal bossing	3040	HBA2	ORPHA:98791
HP:0002007	Frontal bossing	4998	ORC1	OMIM:224690
HP:0002007	Frontal bossing	4125	MAN2B1	OMIM:248500
HP:0002007	Frontal bossing	54496	PRMT7	OMIM:617157
HP:0002007	Frontal bossing	10082	GPC6	OMIM:258315
HP:0002007	Frontal bossing	10082	GPC6	ORPHA:93329
HP:0002007	Frontal bossing	5831	PYCR1	OMIM:612940
HP:0002007	Frontal bossing	2077	ERF	ORPHA:207
HP:0002007	Frontal bossing	2077	ERF	ORPHA:35093
HP:0002007	Frontal bossing	116442	RAB39B	OMIM:311510
HP:0002007	Frontal bossing	116442	RAB39B	ORPHA:2379
HP:0002007	Frontal bossing	7703	PCGF2	OMIM:618371
HP:0002007	Frontal bossing	23258	DENND5A	OMIM:617281
HP:0002007	Frontal bossing	9496	TBX4	ORPHA:261279
HP:0002007	Frontal bossing	8091	HMGA2	ORPHA:94063
HP:0002007	Frontal bossing	8091	HMGA2	ORPHA:397590
HP:0002007	Frontal bossing	23592	LEMD3	ORPHA:94063
HP:0002007	Frontal bossing	10013	HDAC6	OMIM:300863
HP:0002007	Frontal bossing	10013	HDAC6	ORPHA:163966
HP:0002007	Frontal bossing	633	BGN	OMIM:300989
HP:0002007	Frontal bossing	164	AP1G1	OMIM:619467
HP:0002007	Frontal bossing	3977	LIFR	OMIM:601559
HP:0002007	Frontal bossing	26040	SETBP1	OMIM:616078
HP:0002007	Frontal bossing	26040	SETBP1	ORPHA:798
HP:0002007	Frontal bossing	5144	PDE4D	ORPHA:439822
HP:0002007	Frontal bossing	2475	MTOR	ORPHA:457485
HP:0002007	Frontal bossing	2475	MTOR	OMIM:616638
HP:0002007	Frontal bossing	23384	SPECC1L	OMIM:145420
HP:0002007	Frontal bossing	4990	SIX6	OMIM:206900
HP:0002007	Frontal bossing	6657	SOX2	OMIM:206900
HP:0002007	Frontal bossing	9321	TRIP11	ORPHA:166272
HP:0002007	Frontal bossing	9321	TRIP11	ORPHA:93299
HP:0002007	Frontal bossing	9791	PTDSS1	OMIM:151050
HP:0002007	Frontal bossing	4882	NPR2	OMIM:602875
HP:0002007	Frontal bossing	4882	NPR2	ORPHA:40
HP:0002007	Frontal bossing	9851	KIAA0753	OMIM:619476
HP:0002007	Frontal bossing	9851	KIAA0753	OMIM:619479
HP:0002007	Frontal bossing	9851	KIAA0753	ORPHA:2754
HP:0002007	Frontal bossing	57498	KIDINS220	OMIM:617296
HP:0002007	Frontal bossing	10526	IPO8	OMIM:619472
HP:0002007	Frontal bossing	145173	B3GLCT	OMIM:261540
HP:0002007	Frontal bossing	145173	B3GLCT	ORPHA:709
HP:0002007	Frontal bossing	1387	CREBBP	OMIM:180849
HP:0002007	Frontal bossing	2033	EP300	OMIM:180849
HP:0002007	Frontal bossing	79005	SCNM1	OMIM:620107
HP:0002007	Frontal bossing	10283	CWC27	OMIM:250410
HP:0002007	Frontal bossing	10283	CWC27	ORPHA:166035
HP:0002007	Frontal bossing	4796	TONSL	OMIM:271510
HP:0002007	Frontal bossing	4796	TONSL	ORPHA:93357
HP:0002007	Frontal bossing	526	ATP6V1B2	ORPHA:79500
HP:0002007	Frontal bossing	57465	TBC1D24	ORPHA:79500
HP:0002007	Frontal bossing	11198	SUPT16H	OMIM:619480
HP:0002007	Frontal bossing	2887	GRB10	ORPHA:96182
HP:0002007	Frontal bossing	84172	POLR1B	ORPHA:861
HP:0002007	Frontal bossing	9533	POLR1C	ORPHA:861
HP:0002007	Frontal bossing	51082	POLR1D	ORPHA:861
HP:0002007	Frontal bossing	6949	TCOF1	ORPHA:861
HP:0002007	Frontal bossing	23405	DICER1	OMIM:618272
HP:0002007	Frontal bossing	55210	ATAD3A	OMIM:617183
HP:0002007	Frontal bossing	1298	COL9A2	OMIM:600204
HP:0002007	Frontal bossing	3636	INPPL1	OMIM:258480
HP:0002007	Frontal bossing	3636	INPPL1	ORPHA:2746
HP:0002007	Frontal bossing	4841	NONO	OMIM:300967
HP:0002007	Frontal bossing	4841	NONO	ORPHA:466791
HP:0002007	Frontal bossing	8567	MADD	OMIM:619005
HP:0002007	Frontal bossing	5058	PAK1	OMIM:618158
HP:0002007	Frontal bossing	10651	MTX2	OMIM:619127
HP:0002007	Frontal bossing	29123	ANKRD11	ORPHA:261250
HP:0002007	Frontal bossing	25839	COG4	ORPHA:85172
HP:0002007	Frontal bossing	64093	SMOC1	OMIM:206920
HP:0002007	Frontal bossing	64093	SMOC1	ORPHA:1106
HP:0002007	Frontal bossing	1028	CDKN1C	ORPHA:85173
HP:0002007	Frontal bossing	1028	CDKN1C	ORPHA:397590
HP:0002007	Frontal bossing	2799	GNS	OMIM:252940
HP:0002007	Frontal bossing	55599	RNPC3	OMIM:618160
HP:0002007	Frontal bossing	23387	SIK3	OMIM:618162
HP:0002007	Frontal bossing	6904	TBCD	OMIM:617193
HP:0002007	Frontal bossing	5528	PPP2R5D	ORPHA:457279
HP:0002007	Frontal bossing	1984	EIF5A	OMIM:619376
HP:0002007	Frontal bossing	89970	RSPRY1	ORPHA:457395
HP:0002007	Frontal bossing	89970	RSPRY1	OMIM:616723
HP:0002007	Frontal bossing	9487	PIGL	OMIM:280000
HP:0002007	Frontal bossing	8481	OFD1	OMIM:300804
HP:0002007	Frontal bossing	8481	OFD1	OMIM:311200
HP:0002007	Frontal bossing	8481	OFD1	ORPHA:2750
HP:0002007	Frontal bossing	8481	OFD1	ORPHA:2754
HP:0002007	Frontal bossing	5557	PRIM1	OMIM:620005
HP:0002007	Frontal bossing	3295	HSD17B4	OMIM:261515
HP:0002007	Frontal bossing	83737	ITCH	ORPHA:228426
HP:0002007	Frontal bossing	83737	ITCH	OMIM:613385
HP:0002007	Frontal bossing	7474	WNT5A	OMIM:180700
HP:0002007	Frontal bossing	7474	WNT5A	ORPHA:3107
HP:0002007	Frontal bossing	9897	WASHC5	ORPHA:7
HP:0002007	Frontal bossing	28952	CCDC22	ORPHA:7
HP:0002007	Frontal bossing	6913	TBX15	OMIM:260660
HP:0002007	Frontal bossing	6913	TBX15	ORPHA:93333
HP:0002007	Frontal bossing	55181	SMG8	OMIM:619268
HP:0002007	Frontal bossing	27161	AGO2	OMIM:619149
HP:0002007	Frontal bossing	284361	EMC10	OMIM:619264
HP:0002007	Frontal bossing	374654	KIF7	ORPHA:166024
HP:0002007	Frontal bossing	374654	KIF7	OMIM:200990
HP:0002007	Frontal bossing	374654	KIF7	OMIM:607131
HP:0002007	Frontal bossing	374654	KIF7	ORPHA:2754
HP:0002007	Frontal bossing	7421	VDR	ORPHA:93160
HP:0002007	Frontal bossing	7421	VDR	OMIM:277440
HP:0002007	Frontal bossing	55503	TRPV6	OMIM:618188
HP:0002007	Frontal bossing	10312	TCIRG1	OMIM:259700
HP:0002007	Frontal bossing	775	CACNA1C	OMIM:620029
HP:0002007	Frontal bossing	5447	POR	ORPHA:95699
HP:0002007	Frontal bossing	5447	POR	OMIM:201750
HP:0002007	Frontal bossing	5447	POR	OMIM:207410
HP:0002007	Frontal bossing	9401	RECQL4	OMIM:268400
HP:0002007	Frontal bossing	9401	RECQL4	ORPHA:1225
HP:0002007	Frontal bossing	4983	OPHN1	OMIM:300486
HP:0002007	Frontal bossing	4774	NFIA	ORPHA:401986
HP:0002007	Frontal bossing	55112	DYNC2I1	ORPHA:93271
HP:0002007	Frontal bossing	57560	IFT80	ORPHA:93271
HP:0002007	Frontal bossing	79659	DYNC2H1	ORPHA:93271
HP:0002007	Frontal bossing	89891	DYNC2I2	ORPHA:93271
HP:0002007	Frontal bossing	4281	MID1	OMIM:300000
HP:0002007	Frontal bossing	9442	MED27	OMIM:619286
HP:0002007	Frontal bossing	2314	FLII	ORPHA:819
HP:0002007	Frontal bossing	23096	IQSEC2	ORPHA:819
HP:0002007	Frontal bossing	10743	RAI1	ORPHA:819
HP:0002007	Frontal bossing	10522	DEAF1	ORPHA:819
HP:0002007	Frontal bossing	10522	DEAF1	OMIM:615828
HP:0002007	Frontal bossing	6662	SOX9	OMIM:114290
HP:0002007	Frontal bossing	5744	PTHLH	ORPHA:93387
HP:0002007	Frontal bossing	3239	HOXD13	ORPHA:93387
HP:0002007	Frontal bossing	4758	NEU1	ORPHA:812
HP:0002007	Frontal bossing	150468	CKAP2L	ORPHA:3255
HP:0002007	Frontal bossing	4038	LRP4	ORPHA:3258
HP:0002007	Frontal bossing	4038	LRP4	OMIM:614305
HP:0002007	Frontal bossing	324	APC	ORPHA:3258
HP:0002007	Frontal bossing	6595	SMARCA2	OMIM:619293
HP:0002007	Frontal bossing	51360	MBTPS2	ORPHA:2273
HP:0002007	Frontal bossing	57492	ARID1B	OMIM:135900
HP:0002007	Frontal bossing	64324	NSD1	OMIM:117550
HP:0002007	Frontal bossing	672	BRCA1	ORPHA:84
HP:0002007	Frontal bossing	10459	MAD2L2	ORPHA:84
HP:0002007	Frontal bossing	7516	XRCC2	ORPHA:84
HP:0002007	Frontal bossing	29089	UBE2T	ORPHA:84
HP:0002007	Frontal bossing	675	BRCA2	ORPHA:84
HP:0002007	Frontal bossing	55120	FANCL	ORPHA:84
HP:0002007	Frontal bossing	2177	FANCD2	ORPHA:84
HP:0002007	Frontal bossing	2175	FANCA	ORPHA:84
HP:0002007	Frontal bossing	2187	FANCB	ORPHA:84
HP:0002007	Frontal bossing	2176	FANCC	ORPHA:84
HP:0002007	Frontal bossing	2178	FANCE	ORPHA:84
HP:0002007	Frontal bossing	2188	FANCF	ORPHA:84
HP:0002007	Frontal bossing	2189	FANCG	ORPHA:84
HP:0002007	Frontal bossing	5888	RAD51	ORPHA:84
HP:0002007	Frontal bossing	5889	RAD51C	ORPHA:84
HP:0002007	Frontal bossing	55159	RFWD3	ORPHA:84
HP:0002007	Frontal bossing	83990	BRIP1	ORPHA:84
HP:0002007	Frontal bossing	57697	FANCM	ORPHA:84
HP:0002007	Frontal bossing	79728	PALB2	ORPHA:84
HP:0002007	Frontal bossing	84464	SLX4	ORPHA:84
HP:0002007	Frontal bossing	2072	ERCC4	ORPHA:84
HP:0002007	Frontal bossing	55215	FANCI	ORPHA:84
HP:0002007	Frontal bossing	83550	GPR101	ORPHA:963
HP:0002007	Frontal bossing	9049	AIP	ORPHA:963
HP:0002007	Frontal bossing	9049	AIP	ORPHA:99725
HP:0002007	Frontal bossing	23116	TOGARAM1	OMIM:619185
HP:0002007	Frontal bossing	9377	COX5A	OMIM:619064
HP:0002007	Frontal bossing	9839	ZEB2	ORPHA:261552
HP:0002007	Frontal bossing	1327	COX4I1	OMIM:619060
HP:0002007	Frontal bossing	860	RUNX2	OMIM:119600
HP:0002007	Frontal bossing	860	RUNX2	ORPHA:1452
HP:0002007	Frontal bossing	9184	BUB3	ORPHA:1052
HP:0002007	Frontal bossing	699	BUB1	ORPHA:1052
HP:0002007	Frontal bossing	9702	CEP57	ORPHA:1052
HP:0002007	Frontal bossing	9702	CEP57	OMIM:614114
HP:0002007	Frontal bossing	9319	TRIP13	ORPHA:1052
HP:0002007	Frontal bossing	701	BUB1B	ORPHA:1052
HP:0002007	Frontal bossing	10682	EBP	ORPHA:35173
HP:0002007	Frontal bossing	10682	EBP	OMIM:302960
HP:0002007	Frontal bossing	4591	TRIM37	OMIM:253250
HP:0002007	Frontal bossing	1954	MEGF8	OMIM:614976
HP:0002007	Frontal bossing	4338	MOCS2	OMIM:252160
HP:0002007	Frontal bossing	657	BMPR1A	ORPHA:79076
HP:0002007	Frontal bossing	25942	SIN3A	OMIM:613406
HP:0002007	Frontal bossing	3425	IDUA	OMIM:607014
HP:0002007	Frontal bossing	3425	IDUA	ORPHA:93473
HP:0002007	Frontal bossing	6197	RPS6KA3	ORPHA:276630
HP:0002007	Frontal bossing	6197	RPS6KA3	ORPHA:192
HP:0002007	Frontal bossing	2697	GJA1	OMIM:257850
HP:0002007	Frontal bossing	3192	HNRNPU	ORPHA:238769
HP:0002007	Frontal bossing	5251	PHEX	ORPHA:89936
HP:0002007	Frontal bossing	5251	PHEX	OMIM:307800
HP:0002007	Frontal bossing	1857	DVL3	ORPHA:3107
HP:0002007	Frontal bossing	1857	DVL3	OMIM:616894
HP:0002007	Frontal bossing	2535	FZD2	ORPHA:3107
HP:0002007	Frontal bossing	2535	FZD2	OMIM:164745
HP:0002007	Frontal bossing	2535	FZD2	ORPHA:93328
HP:0002007	Frontal bossing	2332	FMR1	ORPHA:908
HP:0002007	Frontal bossing	5290	PIK3CA	ORPHA:60040
HP:0002007	Frontal bossing	285175	UNC80	OMIM:616801
HP:0002007	Frontal bossing	285175	UNC80	ORPHA:371364
HP:0002007	Frontal bossing	11128	POLR3A	OMIM:264090
HP:0002007	Frontal bossing	11128	POLR3A	ORPHA:3455
HP:0002007	Frontal bossing	23137	SMC5	OMIM:620185
HP:0002007	Frontal bossing	57459	GATAD2B	ORPHA:363686
HP:0002007	Frontal bossing	728294	D2HGDH	OMIM:600721
HP:0002007	Frontal bossing	6774	STAT3	OMIM:147060
HP:0002007	Frontal bossing	5159	PDGFRB	OMIM:601812
HP:0002007	Frontal bossing	5324	PLAG1	ORPHA:397590
HP:0002007	Frontal bossing	182	JAG1	OMIM:118450
HP:0002007	Frontal bossing	5832	ALDH18A1	OMIM:219150
HP:0002007	Frontal bossing	4221	MEN1	ORPHA:99725
HP:0002007	Frontal bossing	471	ATIC	OMIM:608688
HP:0002007	Frontal bossing	388015	RTL1	ORPHA:96334
HP:0002007	Frontal bossing	8788	DLK1	ORPHA:96334
HP:0002007	Frontal bossing	55384	MEG3	ORPHA:96334
HP:0002007	Frontal bossing	114548	NLRP3	OMIM:607115
HP:0002007	Frontal bossing	114548	NLRP3	ORPHA:1451
HP:0002007	Frontal bossing	5295	PIK3R1	OMIM:269880
HP:0002007	Frontal bossing	254065	BRWD3	OMIM:300659
HP:0002007	Frontal bossing	9652	SKIC3	OMIM:222470
HP:0002007	Frontal bossing	10661	KLF1	OMIM:613673
HP:0002007	Frontal bossing	729920	CRPPA	OMIM:614643
HP:0002007	Frontal bossing	1302	COL11A2	OMIM:614524
HP:0002007	Frontal bossing	1836	SLC26A2	ORPHA:93298
HP:0002007	Frontal bossing	4313	MMP2	OMIM:259600
HP:0002007	Frontal bossing	1186	CLCN7	ORPHA:53
HP:0002007	Frontal bossing	91252	SLC39A13	OMIM:612350
HP:0002007	Frontal bossing	2702	GJA5	OMIM:612474
HP:0002007	Frontal bossing	2703	GJA8	OMIM:612474
HP:0002007	Frontal bossing	867	CBL	OMIM:613563
HP:0002007	Frontal bossing	51025	PAM16	OMIM:613320
HP:0002007	Frontal bossing	27152	INTU	OMIM:617925
HP:0002007	Frontal bossing	51053	GMNN	OMIM:616835
HP:0002007	Frontal bossing	2200	FBN1	ORPHA:2462
HP:0002007	Frontal bossing	196528	ARID2	OMIM:617808
HP:0002007	Frontal bossing	8260	NAA10	ORPHA:276432
HP:0002007	Frontal bossing	3720	JARID2	OMIM:620098
HP:0002007	Frontal bossing	132	ADK	OMIM:614300
HP:0002007	Frontal bossing	9759	HDAC4	ORPHA:1001
HP:0002007	Frontal bossing	11133	KPTN	OMIM:615637
HP:0002007	Frontal bossing	11133	KPTN	ORPHA:397612
HP:0002007	Frontal bossing	23028	KDM1A	OMIM:616728
HP:0002007	Frontal bossing	79650	USB1	OMIM:604173
HP:0002007	Frontal bossing	5160	PDHA1	OMIM:312170
HP:0002007	Frontal bossing	4792	NFKBIA	OMIM:612132
HP:0002007	Frontal bossing	2902	GRIN1	OMIM:617820
HP:0002007	Frontal bossing	10735	STAG2	OMIM:301022
HP:0002007	Frontal bossing	5604	MAP2K1	ORPHA:1340
HP:0002007	Frontal bossing	5605	MAP2K2	ORPHA:1340
HP:0002007	Frontal bossing	673	BRAF	ORPHA:1340
HP:0002007	Frontal bossing	29940	DSE	OMIM:615539
HP:0002007	Frontal bossing	8517	IKBKG	OMIM:300291
HP:0002007	Frontal bossing	1000	CDH2	OMIM:618929
HP:0002007	Frontal bossing	176	ACAN	OMIM:165800
HP:0002007	Frontal bossing	3758	KCNJ1	OMIM:241200
HP:0002007	Frontal bossing	25	ABL1	OMIM:617602
HP:0002007	Frontal bossing	4041	LRP5	ORPHA:2788
HP:0002007	Frontal bossing	54551	MAGEL2	OMIM:615547
HP:0002007	Frontal bossing	9419	CRIPT	OMIM:615789
HP:0002007	Frontal bossing	139285	AMER1	ORPHA:2780
HP:0002007	Frontal bossing	139285	AMER1	OMIM:300373
HP:0002007	Frontal bossing	55644	OSGEP	OMIM:617729
HP:0002007	Frontal bossing	2313	FLI1	ORPHA:2308
HP:0002007	Frontal bossing	2517	FUCA1	OMIM:230000
HP:0002007	Frontal bossing	7204	TRIO	OMIM:618825
HP:0002007	Frontal bossing	4337	MOCS1	OMIM:252150
HP:0002007	Frontal bossing	51520	LARS1	OMIM:615438
HP:0002007	Frontal bossing	4329	ALDH6A1	OMIM:614105
HP:0002007	Frontal bossing	259232	NALCN	ORPHA:371364
HP:0002007	Frontal bossing	7040	TGFB1	ORPHA:1328
HP:0002007	Frontal bossing	5293	PIK3CD	ORPHA:221139
HP:0002007	Frontal bossing	90417	KNSTRN	ORPHA:221139
HP:0002007	Frontal bossing	8405	SPOP	OMIM:618829
HP:0002007	Frontal bossing	23545	ATP6V0A2	OMIM:219200
HP:0002007	Frontal bossing	128178	EDARADD	OMIM:224900
HP:0002007	Frontal bossing	10913	EDAR	OMIM:224900
HP:0002007	Frontal bossing	284252	KCTD1	OMIM:181270
HP:0002007	Frontal bossing	60401	EDA2R	ORPHA:181
HP:0002007	Frontal bossing	5500	PPP1CB	OMIM:617506
HP:0002007	Frontal bossing	6519	SLC3A1	ORPHA:163690
HP:0002007	Frontal bossing	6519	SLC3A1	ORPHA:163693
HP:0002007	Frontal bossing	9581	PREPL	ORPHA:163690
HP:0002007	Frontal bossing	9581	PREPL	ORPHA:163693
HP:0002007	Frontal bossing	84628	NTNG2	OMIM:618718
HP:0002007	Frontal bossing	113246	C12orf57	OMIM:218340
HP:0002007	Frontal bossing	5495	PPM1B	ORPHA:163693
HP:0002007	Frontal bossing	79823	CAMKMT	ORPHA:163693
HP:0002007	Frontal bossing	51	ACOX1	OMIM:264470
HP:0002007	Frontal bossing	5296	PIK3R2	OMIM:603387
HP:0002007	Frontal bossing	126792	B3GALT6	ORPHA:536467
HP:0002007	Frontal bossing	126792	B3GALT6	OMIM:615349
HP:0002007	Frontal bossing	23247	KATNIP	OMIM:616784
HP:0002007	Frontal bossing	10020	GNE	OMIM:269921
HP:0002007	Frontal bossing	8777	MPDZ	OMIM:615219
HP:0002007	Frontal bossing	5449	POU1F1	OMIM:613038
HP:0002007	Frontal bossing	23389	MED13L	OMIM:616789
HP:0002007	Frontal bossing	9757	KMT2B	OMIM:619934
HP:0002007	Frontal bossing	10210	TOPORS	ORPHA:2754
HP:0002007	Frontal bossing	26123	TCTN3	ORPHA:2754
HP:0002007	Frontal bossing	5147	PDE6D	ORPHA:2754
HP:0002007	Frontal bossing	65250	CPLANE1	ORPHA:2754
HP:0002007	Frontal bossing	317662	FAM149B1	ORPHA:2754
HP:0002007	Frontal bossing	9469	CHST3	OMIM:245600
HP:0002007	Frontal bossing	26229	B3GAT3	OMIM:245600
HP:0002007	Frontal bossing	1280	COL2A1	OMIM:200610
HP:0002007	Frontal bossing	2036	EPB41L1	OMIM:614257
HP:0002007	Frontal bossing	10736	SIX2	ORPHA:488437
HP:0002007	Frontal bossing	8398	PLA2G6	OMIM:256600
HP:0010628	Facial palsy	4359	MPZ	OMIM:618184
HP:0010628	Facial palsy	91574	MTRFR	ORPHA:254930
HP:0010628	Facial palsy	91574	MTRFR	OMIM:613559
HP:0010628	Facial palsy	8506	CNTNAP1	OMIM:618186
HP:0010628	Facial palsy	8506	CNTNAP1	OMIM:616286
HP:0010628	Facial palsy	112	ADCY6	OMIM:616287
HP:0010628	Facial palsy	2733	GLE1	OMIM:611890
HP:0010628	Facial palsy	1410	CRYAB	ORPHA:399058
HP:0010628	Facial palsy	19	ABCA1	OMIM:205400
HP:0010628	Facial palsy	19	ABCA1	ORPHA:31150
HP:0010628	Facial palsy	9997	SCO2	ORPHA:521411
HP:0010628	Facial palsy	9289	ADGRG1	ORPHA:98889
HP:0010628	Facial palsy	5297	PI4KA	ORPHA:98889
HP:0010628	Facial palsy	27286	SRPX2	ORPHA:98889
HP:0010628	Facial palsy	8803	SUCLA2	OMIM:612073
HP:0010628	Facial palsy	6472	SHMT2	OMIM:619121
HP:0010628	Facial palsy	10730	YME1L1	OMIM:617302
HP:0010628	Facial palsy	2218	FKTN	ORPHA:370980
HP:0010628	Facial palsy	729920	CRPPA	ORPHA:370980
HP:0010628	Facial palsy	1760	DMPK	OMIM:160900
HP:0010628	Facial palsy	9990	SLC12A6	OMIM:218000
HP:0010628	Facial palsy	4649	MYO9A	ORPHA:98914
HP:0010628	Facial palsy	1103	CHAT	ORPHA:98914
HP:0010628	Facial palsy	6576	SLC25A1	ORPHA:98914
HP:0010628	Facial palsy	6843	VAMP1	ORPHA:98914
HP:0010628	Facial palsy	127833	SYT2	ORPHA:98914
HP:0010628	Facial palsy	6572	SLC18A3	ORPHA:98914
HP:0010628	Facial palsy	6616	SNAP25	ORPHA:98914
HP:0010628	Facial palsy	84570	COL25A1	ORPHA:91411
HP:0010628	Facial palsy	79776	ZFHX4	ORPHA:91411
HP:0010628	Facial palsy	58	ACTA1	ORPHA:97240
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171436
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171433
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171430
HP:0010628	Facial palsy	58	ACTA1	OMIM:616852
HP:0010628	Facial palsy	58	ACTA1	OMIM:161800
HP:0010628	Facial palsy	50964	SOST	OMIM:269500
HP:0010628	Facial palsy	50964	SOST	ORPHA:3416
HP:0010628	Facial palsy	50964	SOST	ORPHA:3152
HP:0010628	Facial palsy	274	BIN1	ORPHA:169186
HP:0010628	Facial palsy	274	BIN1	OMIM:255200
HP:0010628	Facial palsy	10290	SPEG	ORPHA:169186
HP:0010628	Facial palsy	6261	RYR1	ORPHA:169186
HP:0010628	Facial palsy	6261	RYR1	OMIM:255320
HP:0010628	Facial palsy	6261	RYR1	ORPHA:178145
HP:0010628	Facial palsy	6261	RYR1	ORPHA:98905
HP:0010628	Facial palsy	7273	TTN	ORPHA:169186
HP:0010628	Facial palsy	291	SLC25A4	ORPHA:254892
HP:0010628	Facial palsy	291	SLC25A4	OMIM:609283
HP:0010628	Facial palsy	5428	POLG	ORPHA:254892
HP:0010628	Facial palsy	5428	POLG	OMIM:258450
HP:0010628	Facial palsy	5428	POLG	ORPHA:254886
HP:0010628	Facial palsy	5428	POLG	OMIM:157640
HP:0010628	Facial palsy	56652	TWNK	ORPHA:254892
HP:0010628	Facial palsy	11232	POLG2	ORPHA:254892
HP:0010628	Facial palsy	11232	POLG2	OMIM:610131
HP:0010628	Facial palsy	50484	RRM2B	ORPHA:254892
HP:0010628	Facial palsy	22827	PUF60	ORPHA:508498
HP:0010628	Facial palsy	55906	ZC4H2	OMIM:301041
HP:0010628	Facial palsy	55906	ZC4H2	OMIM:314580
HP:0010628	Facial palsy	2673	GFPT1	OMIM:608931
HP:0010628	Facial palsy	2673	GFPT1	ORPHA:353327
HP:0010628	Facial palsy	2673	GFPT1	OMIM:610542
HP:0010628	Facial palsy	1145	CHRNE	OMIM:608931
HP:0010628	Facial palsy	1145	CHRNE	ORPHA:98913
HP:0010628	Facial palsy	1291	COL6A1	OMIM:254090
HP:0010628	Facial palsy	1292	COL6A2	OMIM:254090
HP:0010628	Facial palsy	1292	COL6A2	OMIM:255600
HP:0010628	Facial palsy	1293	COL6A3	OMIM:254090
HP:0010628	Facial palsy	1144	CHRND	OMIM:616322
HP:0010628	Facial palsy	1144	CHRND	OMIM:616323
HP:0010628	Facial palsy	1144	CHRND	ORPHA:98913
HP:0010628	Facial palsy	2138	EYA1	OMIM:113650
HP:0010628	Facial palsy	2138	EYA1	ORPHA:107
HP:0010628	Facial palsy	2138	EYA1	ORPHA:52429
HP:0010628	Facial palsy	6495	SIX1	OMIM:113650
HP:0010628	Facial palsy	6495	SIX1	ORPHA:107
HP:0010628	Facial palsy	6495	SIX1	ORPHA:52429
HP:0010628	Facial palsy	56203	LMOD3	OMIM:616165
HP:0010628	Facial palsy	56203	LMOD3	ORPHA:171436
HP:0010628	Facial palsy	56203	LMOD3	ORPHA:171430
HP:0010628	Facial palsy	2697	GJA1	ORPHA:1522
HP:0010628	Facial palsy	2697	GJA1	OMIM:218400
HP:0010628	Facial palsy	56172	ANKH	ORPHA:1522
HP:0010628	Facial palsy	56172	ANKH	OMIM:123000
HP:0010628	Facial palsy	4593	MUSK	OMIM:616325
HP:0010628	Facial palsy	4593	MUSK	ORPHA:98913
HP:0010628	Facial palsy	10312	TCIRG1	OMIM:259700
HP:0010628	Facial palsy	1305	COL13A1	OMIM:616720
HP:0010628	Facial palsy	1305	COL13A1	ORPHA:98913
HP:0010628	Facial palsy	23394	ADNP	OMIM:615873
HP:0010628	Facial palsy	400916	CHCHD10	OMIM:616209
HP:0010628	Facial palsy	4038	LRP4	OMIM:614305
HP:0010628	Facial palsy	4038	LRP4	ORPHA:98913
HP:0010628	Facial palsy	4038	LRP4	ORPHA:3152
HP:0010628	Facial palsy	7415	VCP	OMIM:167320
HP:0010628	Facial palsy	1134	CHRNA1	OMIM:608930
HP:0010628	Facial palsy	1134	CHRNA1	ORPHA:98913
HP:0010628	Facial palsy	4747	NEFL	OMIM:607684
HP:0010628	Facial palsy	825	CAPN3	OMIM:253600
HP:0010628	Facial palsy	57167	SALL4	OMIM:607323
HP:0010628	Facial palsy	79581	SLC52A2	OMIM:614707
HP:0010628	Facial palsy	10049	DNAJB6	OMIM:603511
HP:0010628	Facial palsy	1120	CHKB	OMIM:602541
HP:0010628	Facial palsy	57165	GJC2	OMIM:608804
HP:0010628	Facial palsy	29887	SNX10	OMIM:615085
HP:0010628	Facial palsy	7169	TPM2	ORPHA:171436
HP:0010628	Facial palsy	7169	TPM2	ORPHA:171881
HP:0010628	Facial palsy	4703	NEB	ORPHA:171436
HP:0010628	Facial palsy	4703	NEB	ORPHA:171433
HP:0010628	Facial palsy	4703	NEB	ORPHA:171430
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171436
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171433
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171430
HP:0010628	Facial palsy	1073	CFL2	ORPHA:171436
HP:0010628	Facial palsy	60482	SLC5A7	OMIM:617143
HP:0010628	Facial palsy	7084	TK2	ORPHA:254886
HP:0010628	Facial palsy	92667	MGME1	OMIM:615084
HP:0010628	Facial palsy	7170	TPM3	ORPHA:171433
HP:0010628	Facial palsy	7170	TPM3	ORPHA:171881
HP:0010628	Facial palsy	7170	TPM3	OMIM:255310
HP:0010628	Facial palsy	29998	BICRA	OMIM:619325
HP:0010628	Facial palsy	131377	KLHL40	ORPHA:171430
HP:0010628	Facial palsy	131377	KLHL40	OMIM:615348
HP:0010628	Facial palsy	9790	BMS1	ORPHA:1114
HP:0010628	Facial palsy	5339	PLEC	ORPHA:1114
HP:0010628	Facial palsy	10054	UBA2	ORPHA:1114
HP:0010628	Facial palsy	3691	ITGB4	ORPHA:1114
HP:0010628	Facial palsy	54567	DLL4	ORPHA:1114
HP:0010628	Facial palsy	4041	LRP5	ORPHA:3416
HP:0010628	Facial palsy	4041	LRP5	ORPHA:2790
HP:0010628	Facial palsy	4041	LRP5	ORPHA:178377
HP:0010628	Facial palsy	84466	MEGF10	OMIM:614399
HP:0010628	Facial palsy	55636	CHD7	ORPHA:138
HP:0010628	Facial palsy	55636	CHD7	OMIM:214800
HP:0010628	Facial palsy	9723	SEMA3E	ORPHA:138
HP:0010628	Facial palsy	3908	LAMA2	ORPHA:258
HP:0010628	Facial palsy	4625	MYH7	OMIM:160500
HP:0010628	Facial palsy	4625	MYH7	ORPHA:437572
HP:0010628	Facial palsy	389827	MYMK	ORPHA:1358
HP:0010628	Facial palsy	389827	MYMK	OMIM:254940
HP:0010628	Facial palsy	101929726	MYMX	ORPHA:1358
HP:0010628	Facial palsy	29925	GMPPB	ORPHA:353327
HP:0010628	Facial palsy	29925	GMPPB	ORPHA:370968
HP:0010628	Facial palsy	1798	DPAGT1	ORPHA:353327
HP:0010628	Facial palsy	85365	ALG2	ORPHA:353327
HP:0010628	Facial palsy	199857	ALG14	ORPHA:353327
HP:0010628	Facial palsy	427	ASAH1	OMIM:159950
HP:0010628	Facial palsy	79147	FKRP	ORPHA:370968
HP:0010628	Facial palsy	79147	FKRP	OMIM:606612
HP:0010628	Facial palsy	29954	POMT2	ORPHA:370968
HP:0010628	Facial palsy	29954	POMT2	OMIM:613156
HP:0010628	Facial palsy	9215	LARGE1	ORPHA:370968
HP:0010628	Facial palsy	9215	LARGE1	OMIM:608840
HP:0010628	Facial palsy	10585	POMT1	ORPHA:370968
HP:0010628	Facial palsy	10585	POMT1	OMIM:613155
HP:0010628	Facial palsy	57190	SELENON	OMIM:602771
HP:0010628	Facial palsy	51816	ADA2	OMIM:182410
HP:0010628	Facial palsy	5980	REV3L	ORPHA:570
HP:0010628	Facial palsy	23129	PLXND1	ORPHA:570
HP:0010628	Facial palsy	10735	STAG2	OMIM:301022
HP:0010628	Facial palsy	2483	FRG1	OMIM:158900
HP:0010628	Facial palsy	23347	SMCHD1	OMIM:158901
HP:0010628	Facial palsy	8878	SQSTM1	OMIM:617158
HP:0010628	Facial palsy	84665	MYPN	ORPHA:171881
HP:0010628	Facial palsy	84665	MYPN	OMIM:617336
HP:0010628	Facial palsy	10381	TUBB3	OMIM:600638
HP:0010628	Facial palsy	22954	TRIM32	OMIM:254110
HP:0010628	Facial palsy	56244	BTNL2	OMIM:612387
HP:0010628	Facial palsy	56244	BTNL2	ORPHA:797
HP:0010628	Facial palsy	29967	LRP12	OMIM:164310
HP:0010628	Facial palsy	10020	GNE	ORPHA:602
HP:0010628	Facial palsy	7020	TFAP2A	OMIM:113620
HP:0010628	Facial palsy	51651	PTRH2	ORPHA:456312
HP:0010628	Facial palsy	1303	COL12A1	OMIM:616470
HP:0010628	Facial palsy	7317	UBA1	OMIM:301830
HP:0010628	Facial palsy	390594	KBTBD13	OMIM:609273
HP:0010628	Facial palsy	139285	AMER1	ORPHA:2780
HP:0010628	Facial palsy	139285	AMER1	OMIM:300373
HP:0010628	Facial palsy	9531	BAG3	OMIM:612954
HP:0010628	Facial palsy	9244	CRLF1	OMIM:272430
HP:0010628	Facial palsy	113278	SLC52A3	OMIM:211530
HP:0010628	Facial palsy	3123	HLA-DRB1	ORPHA:797
HP:0010628	Facial palsy	84617	TUBB6	OMIM:617732
HP:0010628	Facial palsy	9791	PTDSS1	ORPHA:2658
HP:0010628	Facial palsy	8314	BAP1	ORPHA:2495
HP:0010628	Facial palsy	4771	NF2	ORPHA:2495
HP:0010628	Facial palsy	4771	NF2	ORPHA:637
HP:0010628	Facial palsy	6598	SMARCB1	ORPHA:2495
HP:0010628	Facial palsy	5155	PDGFB	ORPHA:2495
HP:0010628	Facial palsy	84231	TRAF7	ORPHA:2495
HP:0010628	Facial palsy	6608	SMO	ORPHA:2495
HP:0010628	Facial palsy	207	AKT1	ORPHA:2495
HP:0010628	Facial palsy	5290	PIK3CA	ORPHA:2495
HP:0010628	Facial palsy	7015	TERT	ORPHA:2495
HP:0010628	Facial palsy	51684	SUFU	ORPHA:2495
HP:0010628	Facial palsy	6605	SMARCE1	ORPHA:2495
HP:0010628	Facial palsy	3211	HOXB1	OMIM:614744
HP:0010628	Facial palsy	4534	MTM1	OMIM:310400
HP:0010628	Facial palsy	7040	TGFB1	ORPHA:1328
HP:0010628	Facial palsy	8085	KMT2D	OMIM:620186
HP:0010628	Facial palsy	80704	SLC19A3	OMIM:607483
HP:0010628	Facial palsy	147912	SIX5	ORPHA:107
HP:0010628	Facial palsy	8898	MTMR2	OMIM:601382
HP:0010628	Facial palsy	1785	DNM2	OMIM:160150
HP:0010628	Facial palsy	64419	MTMR14	OMIM:160150
HP:0010628	Facial palsy	2934	GSN	ORPHA:85448
HP:0010628	Facial palsy	23095	KIF1B	OMIM:118210
HP:0010628	Facial palsy	1674	DES	OMIM:601419
HP:0010628	Facial palsy	8292	COLQ	ORPHA:98915
HP:0010628	Facial palsy	3913	LAMB2	ORPHA:98915
HP:0010628	Facial palsy	6444	SGCD	ORPHA:219
HP:0010628	Facial palsy	23516	SLC39A14	OMIM:144755
HP:0010628	Facial palsy	8106	PABPN1	OMIM:164300
HP:0010628	Facial palsy	6329	SCN4A	ORPHA:98913
HP:0010628	Facial palsy	1140	CHRNB1	ORPHA:98913
HP:0010628	Facial palsy	1140	CHRNB1	OMIM:616313
HP:0010628	Facial palsy	5913	RAPSN	ORPHA:98913
HP:0010628	Facial palsy	375790	AGRN	ORPHA:98913
HP:0010628	Facial palsy	221264	AK9	ORPHA:98913
HP:0010628	Facial palsy	285489	DOK7	ORPHA:98913
HP:0010628	Facial palsy	1186	CLCN7	OMIM:166600
HP:0010628	Facial palsy	1186	CLCN7	OMIM:611490
HP:0010628	Facial palsy	1186	CLCN7	ORPHA:53
HP:0010628	Facial palsy	55670	PEX26	ORPHA:772
HP:0010628	Facial palsy	5824	PEX19	ORPHA:772
HP:0010628	Facial palsy	5828	PEX2	ORPHA:772
HP:0010628	Facial palsy	8504	PEX3	ORPHA:772
HP:0010628	Facial palsy	9409	PEX16	ORPHA:772
HP:0010628	Facial palsy	5190	PEX6	ORPHA:772
HP:0010628	Facial palsy	8799	PEX11B	ORPHA:772
HP:0010628	Facial palsy	5830	PEX5	ORPHA:772
HP:0010628	Facial palsy	5189	PEX1	ORPHA:772
HP:0010628	Facial palsy	5193	PEX12	ORPHA:772
HP:0010628	Facial palsy	5194	PEX13	ORPHA:772
HP:0010628	Facial palsy	5195	PEX14	ORPHA:772
HP:0010628	Facial palsy	5192	PEX10	ORPHA:772
HP:0010628	Facial palsy	339855	KY	OMIM:617114
HP:0010628	Facial palsy	84168	ANTXR1	OMIM:230740
HP:0010628	Facial palsy	57731	SPTBN4	OMIM:617519
HP:0010628	Facial palsy	64127	NOD2	ORPHA:90340
HP:0010628	Facial palsy	8139	GAN	ORPHA:643
HP:0010628	Facial palsy	8139	GAN	OMIM:256850
HP:0010628	Facial palsy	28962	OSTM1	OMIM:259720
HP:0010628	Facial palsy	79628	SH3TC2	OMIM:601596
HP:0010628	Facial palsy	4633	MYL2	OMIM:619424
HP:0010628	Facial palsy	29089	UBE2T	OMIM:616435
HP:0010628	Facial palsy	203859	ANO5	OMIM:611307
HP:0010628	Facial palsy	203859	ANO5	ORPHA:206549
HP:0010628	Facial palsy	1861	TOR1A	OMIM:128100
HP:0010628	Facial palsy	59341	TRPV4	OMIM:181405
HP:0010628	Facial palsy	11198	SUPT16H	OMIM:619480
HP:0010628	Facial palsy	7516	XRCC2	OMIM:617247
HP:0010628	Facial palsy	3098	HK1	OMIM:618547
HP:0010628	Facial palsy	23345	SYNE1	ORPHA:319332
HP:0002009	Potter facies	26281	FGF20	OMIM:615721
HP:0002009	Potter facies	183	AGT	OMIM:267430
HP:0002009	Potter facies	5972	REN	OMIM:267430
HP:0002009	Potter facies	185	AGTR1	OMIM:267430
HP:0002009	Potter facies	1636	ACE	OMIM:267430
HP:0002009	Potter facies	7317	UBA1	ORPHA:1145
HP:0002009	Potter facies	2674	GFRA1	OMIM:619887
HP:0002009	Potter facies	5076	PAX2	ORPHA:97362
HP:0002009	Potter facies	5087	PBX1	ORPHA:97362
HP:0002009	Potter facies	8516	ITGA8	OMIM:191830
HP:0002009	Potter facies	55165	CEP55	OMIM:236500
HP:0002009	Potter facies	27031	NPHP3	OMIM:208540
HP:0002009	Potter facies	5314	PKHD1	OMIM:263200
HP:0012221	Pretibial blistering	3852	KRT5	ORPHA:158681
HP:0012221	Pretibial blistering	1280	COL2A1	ORPHA:85198
HP:0012221	Pretibial blistering	1294	COL7A1	ORPHA:79410
HP:0012221	Pretibial blistering	1294	COL7A1	OMIM:131850
HP:0012221	Pretibial blistering	1294	COL7A1	ORPHA:89843
HP:0012221	Pretibial blistering	977	CD151	OMIM:609057
HP:0012222	Arachnoid hemangiomatosis	2776	GNAQ	OMIM:185300
HP:0012222	Arachnoid hemangiomatosis	7428	VHL	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	1743	DLST	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4191	MDH2	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	5979	RET	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6389	SDHA	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	23095	KIF1B	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	2271	FH	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	8402	SLC25A11	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	54949	SDHAF2	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	55654	TMEM127	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4763	NF1	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6391	SDHC	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6392	SDHD	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6390	SDHB	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4149	MAX	ORPHA:29072
HP:0012225	Oligodontia of primary teeth	5083	PAX9	OMIM:604625
HP:0012226	Ovarian teratoma	4437	MSH3	ORPHA:480536
HP:0012226	Ovarian teratoma	5573	PRKAR1A	ORPHA:1359
HP:0012226	Ovarian teratoma	50940	PDE11A	ORPHA:1359
HP:0012227	Urethral stricture	3655	ITGA6	ORPHA:79403
HP:0012227	Urethral stricture	3691	ITGB4	ORPHA:79403
HP:0012227	Urethral stricture	3909	LAMA3	ORPHA:79404
HP:0012227	Urethral stricture	3918	LAMC2	ORPHA:79404
HP:0012227	Urethral stricture	3914	LAMB3	ORPHA:79404
HP:0012227	Urethral stricture	4312	MMP1	ORPHA:79408
HP:0012227	Urethral stricture	1294	COL7A1	ORPHA:79408
HP:0012227	Urethral stricture	1294	COL7A1	ORPHA:79409
HP:0012227	Urethral stricture	5422	POLA1	OMIM:301220
HP:0012227	Urethral stricture	5317	PKP1	ORPHA:158668
HP:0012227	Urethral stricture	55612	FERMT1	ORPHA:2908
HP:0012227	Urethral stricture	7750	ZMYM2	OMIM:619522
HP:0012227	Urethral stricture	2324	FLT4	OMIM:153100
HP:0012227	Urethral stricture	8318	CDC45	OMIM:617063
HP:0012227	Urethral stricture	26277	TINF2	OMIM:613990
HP:0012227	Urethral stricture	5339	PLEC	OMIM:226670
HP:0012227	Urethral stricture	8195	MKKS	ORPHA:2473
HP:0012227	Urethral stricture	7015	TERT	OMIM:613989
HP:0012229	CSF pleocytosis	79621	RNASEH2B	ORPHA:51
HP:0012229	CSF pleocytosis	79621	RNASEH2B	OMIM:610181
HP:0012229	CSF pleocytosis	100147744	RNU7-1	ORPHA:51
HP:0012229	CSF pleocytosis	64135	IFIH1	ORPHA:51
HP:0012229	CSF pleocytosis	5551	PRF1	ORPHA:540
HP:0012229	CSF pleocytosis	5551	PRF1	OMIM:603553
HP:0012229	CSF pleocytosis	8676	STX11	ORPHA:540
HP:0012229	CSF pleocytosis	201294	UNC13D	ORPHA:540
HP:0012229	CSF pleocytosis	6813	STXBP2	ORPHA:540
HP:0012229	CSF pleocytosis	64849	SLC13A3	OMIM:618384
HP:0012229	CSF pleocytosis	103	ADAR	OMIM:615010
HP:0012229	CSF pleocytosis	134353	LSM11	OMIM:619486
HP:0012229	CSF pleocytosis	100996717	NOTCH2NLC	OMIM:603472
HP:0012229	CSF pleocytosis	11277	TREX1	OMIM:225750
HP:0012229	CSF pleocytosis	3661	IRF3	OMIM:616532
HP:0012229	CSF pleocytosis	10535	RNASEH2A	OMIM:610333
HP:0012229	CSF pleocytosis	25939	SAMHD1	OMIM:612952
HP:0012229	CSF pleocytosis	84153	RNASEH2C	OMIM:610329
HP:0012229	CSF pleocytosis	773	CACNA1A	ORPHA:569
HP:0012229	CSF pleocytosis	112476	PRRT2	ORPHA:569
HP:0012229	CSF pleocytosis	6323	SCN1A	ORPHA:569
HP:0012229	CSF pleocytosis	477	ATP1A2	ORPHA:569
HP:0012229	CSF pleocytosis	7187	TRAF3	ORPHA:1930
HP:0012229	CSF pleocytosis	81622	UNC93B1	ORPHA:1930
HP:0012229	CSF pleocytosis	148022	TICAM1	ORPHA:1930
HP:0012229	CSF pleocytosis	7098	TLR3	ORPHA:1930
HP:0012229	CSF pleocytosis	29110	TBK1	ORPHA:1930
HP:0012223	Splenic rupture	2243	FGA	OMIM:202400
HP:0012223	Splenic rupture	2244	FGB	OMIM:202400
HP:0012223	Splenic rupture	2266	FGG	OMIM:202400
HP:0032656	Febrile status epilepticus	8604	SLC25A12	OMIM:612949
HP:0032658	Status epilepticus with prominent motor symptoms	56997	COQ8A	OMIM:612016
HP:0032658	Status epilepticus with prominent motor symptoms	29960	MRM2	OMIM:618567
HP:0032658	Status epilepticus with prominent motor symptoms	5428	POLG	OMIM:203700
HP:0032658	Status epilepticus with prominent motor symptoms	6335	SCN9A	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	6326	SCN2A	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	2554	GABRA1	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	6323	SCN1A	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	6324	SCN1B	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	57526	PCDH19	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	2566	GABRG2	ORPHA:33069
HP:0032658	Status epilepticus with prominent motor symptoms	56652	TWNK	OMIM:271245
HP:0032658	Status epilepticus with prominent motor symptoms	773	CACNA1A	OMIM:617106
HP:0032658	Status epilepticus with prominent motor symptoms	6513	SLC2A1	OMIM:608885
HP:0032658	Status epilepticus with prominent motor symptoms	5830	PEX5	OMIM:616716
HP:0032658	Status epilepticus with prominent motor symptoms	8867	SYNJ1	OMIM:617389
HP:0032658	Status epilepticus with prominent motor symptoms	6844	VAMP2	OMIM:618760
HP:0032658	Status epilepticus with prominent motor symptoms	5138	PDE2A	OMIM:619150
HP:0032658	Status epilepticus with prominent motor symptoms	57107	PDSS2	OMIM:614652
HP:0032658	Status epilepticus with prominent motor symptoms	221927	BRAT1	OMIM:614498
HP:0032658	Status epilepticus with prominent motor symptoms	23031	MAST3	OMIM:620115
HP:0032658	Status epilepticus with prominent motor symptoms	10991	SLC38A3	OMIM:619881
HP:0032658	Status epilepticus with prominent motor symptoms	6506	SLC1A2	OMIM:617105
HP:0032658	Status epilepticus with prominent motor symptoms	23219	FBXO28	OMIM:619777
HP:0032658	Status epilepticus with prominent motor symptoms	427	ASAH1	ORPHA:2590
HP:0032658	Status epilepticus with prominent motor symptoms	9570	GOSR2	OMIM:614018
HP:0032658	Status epilepticus with prominent motor symptoms	154881	KCTD7	OMIM:611726
HP:0032658	Status epilepticus with prominent motor symptoms	3747	KCNC2	OMIM:619913
HP:0032660	Convulsive status epilepticus	773	CACNA1A	OMIM:617106
HP:0032660	Convulsive status epilepticus	23031	MAST3	OMIM:620115
HP:0032660	Convulsive status epilepticus	57526	PCDH19	OMIM:300088
HP:0032660	Convulsive status epilepticus	6513	SLC2A1	OMIM:608885
HP:0032660	Convulsive status epilepticus	5830	PEX5	OMIM:616716
HP:0032660	Convulsive status epilepticus	8867	SYNJ1	OMIM:617389
HP:0032660	Convulsive status epilepticus	6844	VAMP2	OMIM:618760
HP:0032663	Focal motor status epilepticus	56997	COQ8A	OMIM:612016
HP:0032663	Focal motor status epilepticus	29960	MRM2	OMIM:618567
HP:0032663	Focal motor status epilepticus	5428	POLG	OMIM:203700
HP:0032663	Focal motor status epilepticus	6335	SCN9A	ORPHA:33069
HP:0032663	Focal motor status epilepticus	6326	SCN2A	ORPHA:33069
HP:0032663	Focal motor status epilepticus	2554	GABRA1	ORPHA:33069
HP:0032663	Focal motor status epilepticus	6323	SCN1A	ORPHA:33069
HP:0032663	Focal motor status epilepticus	6324	SCN1B	ORPHA:33069
HP:0032663	Focal motor status epilepticus	57526	PCDH19	ORPHA:33069
HP:0032663	Focal motor status epilepticus	2566	GABRG2	ORPHA:33069
HP:0032663	Focal motor status epilepticus	56652	TWNK	OMIM:271245
HP:0032663	Focal motor status epilepticus	5138	PDE2A	OMIM:619150
HP:0032663	Focal motor status epilepticus	57107	PDSS2	OMIM:614652
HP:0032663	Focal motor status epilepticus	221927	BRAT1	OMIM:614498
HP:0032663	Focal motor status epilepticus	23031	MAST3	OMIM:620115
HP:0032663	Focal motor status epilepticus	10991	SLC38A3	OMIM:619881
HP:0002010	Narrow maxilla	25	ABL1	OMIM:617602
HP:0002010	Narrow maxilla	1289	COL5A1	OMIM:130000
HP:0002011	Morphological central nervous system abnormality	8294	H4C9	OMIM:619951
HP:0002011	Morphological central nervous system abnormality	65082	VPS33A	ORPHA:505248
HP:0002011	Morphological central nervous system abnormality	3039	HBA1	ORPHA:163596
HP:0002011	Morphological central nervous system abnormality	3040	HBA2	ORPHA:163596
HP:0002011	Morphological central nervous system abnormality	63901	FAM111A	OMIM:602361
HP:0002011	Morphological central nervous system abnormality	3981	LIG4	ORPHA:235
HP:0002011	Morphological central nervous system abnormality	54888	NSUN2	ORPHA:235
HP:0002011	Morphological central nervous system abnormality	5034	P4HB	OMIM:112240
HP:0002011	Morphological central nervous system abnormality	55621	TRMT1	OMIM:618302
HP:0002011	Morphological central nervous system abnormality	2683	B4GALT1	ORPHA:79332
HP:0002011	Morphological central nervous system abnormality	2683	B4GALT1	OMIM:607091
HP:0002011	Morphological central nervous system abnormality	8643	PTCH2	ORPHA:377
HP:0002011	Morphological central nervous system abnormality	54941	RNF125	OMIM:616260
HP:0002011	Morphological central nervous system abnormality	55120	FANCL	OMIM:614083
HP:0002011	Morphological central nervous system abnormality	55120	FANCL	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	3423	IDS	OMIM:309900
HP:0002011	Morphological central nervous system abnormality	8905	AP1S2	OMIM:304340
HP:0002011	Morphological central nervous system abnormality	8905	AP1S2	ORPHA:85335
HP:0002011	Morphological central nervous system abnormality	1801	DPH1	ORPHA:459061
HP:0002011	Morphological central nervous system abnormality	51422	PRKAG2	OMIM:261740
HP:0002011	Morphological central nervous system abnormality	10312	TCIRG1	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	10312	TCIRG1	OMIM:259700
HP:0002011	Morphological central nervous system abnormality	1186	CLCN7	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	1186	CLCN7	ORPHA:53
HP:0002011	Morphological central nervous system abnormality	29887	SNX10	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	8600	TNFSF11	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	8600	TNFSF11	OMIM:259710
HP:0002011	Morphological central nervous system abnormality	4967	OGDH	ORPHA:31
HP:0002011	Morphological central nervous system abnormality	1193	CLIC2	OMIM:300886
HP:0002011	Morphological central nervous system abnormality	9871	SEC24D	OMIM:616294
HP:0002011	Morphological central nervous system abnormality	79068	FTO	OMIM:612938
HP:0002011	Morphological central nervous system abnormality	56975	FAM20C	OMIM:259775
HP:0002011	Morphological central nervous system abnormality	57551	TAOK1	OMIM:619575
HP:0002011	Morphological central nervous system abnormality	340665	CYP26C1	ORPHA:398189
HP:0002011	Morphological central nervous system abnormality	5831	PYCR1	OMIM:612940
HP:0002011	Morphological central nervous system abnormality	10013	HDAC6	OMIM:300863
HP:0002011	Morphological central nervous system abnormality	10013	HDAC6	ORPHA:163966
HP:0002011	Morphological central nervous system abnormality	54809	SAMD9	OMIM:617053
HP:0002011	Morphological central nervous system abnormality	6711	SPTBN1	OMIM:619475
HP:0002011	Morphological central nervous system abnormality	4157	MC1R	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	4534	MTM1	OMIM:310400
HP:0002011	Morphological central nervous system abnormality	55640	FLVCR2	OMIM:225790
HP:0002011	Morphological central nervous system abnormality	23387	SIK3	OMIM:618162
HP:0002011	Morphological central nervous system abnormality	55898	UNC45A	OMIM:619377
HP:0002011	Morphological central nervous system abnormality	6913	TBX15	OMIM:260660
HP:0002011	Morphological central nervous system abnormality	8085	KMT2D	OMIM:147920
HP:0002011	Morphological central nervous system abnormality	8085	KMT2D	ORPHA:2322
HP:0002011	Morphological central nervous system abnormality	7403	KDM6A	OMIM:147920
HP:0002011	Morphological central nervous system abnormality	7403	KDM6A	ORPHA:2322
HP:0002011	Morphological central nervous system abnormality	10262	SF3B4	OMIM:154400
HP:0002011	Morphological central nervous system abnormality	8792	TNFRSF11A	OMIM:612301
HP:0002011	Morphological central nervous system abnormality	672	BRCA1	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	10459	MAD2L2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	29089	UBE2T	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	675	BRCA2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2175	FANCA	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2176	FANCC	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2178	FANCE	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2189	FANCG	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	5889	RAD51C	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	83990	BRIP1	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	79728	PALB2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	84464	SLX4	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	5340	PLG	ORPHA:722
HP:0002011	Morphological central nervous system abnormality	5340	PLG	OMIM:217090
HP:0002011	Morphological central nervous system abnormality	55697	VAC14	ORPHA:3472
HP:0002011	Morphological central nervous system abnormality	3425	IDUA	OMIM:607014
HP:0002011	Morphological central nervous system abnormality	3425	IDUA	ORPHA:93473
HP:0002011	Morphological central nervous system abnormality	3192	HNRNPU	ORPHA:238769
HP:0002011	Morphological central nervous system abnormality	5063	PAK3	OMIM:300558
HP:0002011	Morphological central nervous system abnormality	64327	LMBR1	ORPHA:2378
HP:0002011	Morphological central nervous system abnormality	3662	IRF4	ORPHA:3452
HP:0002011	Morphological central nervous system abnormality	2776	GNAQ	ORPHA:3205
HP:0002011	Morphological central nervous system abnormality	51134	CEP83	OMIM:615862
HP:0002011	Morphological central nervous system abnormality	2719	GPC3	OMIM:312870
HP:0002011	Morphological central nervous system abnormality	2239	GPC4	OMIM:312870
HP:0002011	Morphological central nervous system abnormality	9927	MFN2	ORPHA:99947
HP:0002011	Morphological central nervous system abnormality	579	NKX3-2	OMIM:613330
HP:0002011	Morphological central nervous system abnormality	26160	IFT172	OMIM:615630
HP:0002011	Morphological central nervous system abnormality	7473	WNT3	ORPHA:3301
HP:0002011	Morphological central nervous system abnormality	7473	WNT3	OMIM:273395
HP:0002011	Morphological central nervous system abnormality	340419	RSPO2	ORPHA:3301
HP:0002011	Morphological central nervous system abnormality	411	ARSB	OMIM:253200
HP:0002011	Morphological central nervous system abnormality	5604	MAP2K1	ORPHA:1340
HP:0002011	Morphological central nervous system abnormality	64093	SMOC1	ORPHA:1106
HP:0002011	Morphological central nervous system abnormality	4758	NEU1	ORPHA:93400
HP:0002011	Morphological central nervous system abnormality	112752	IFT43	OMIM:617866
HP:0002011	Morphological central nervous system abnormality	2073	ERCC5	ORPHA:220295
HP:0002011	Morphological central nervous system abnormality	139285	AMER1	OMIM:300373
HP:0002011	Morphological central nervous system abnormality	6497	SKI	OMIM:182212
HP:0002011	Morphological central nervous system abnormality	126792	B3GALT6	ORPHA:536467
HP:0002011	Morphological central nervous system abnormality	2990	GUSB	OMIM:253220
HP:0002011	Morphological central nervous system abnormality	59341	TRPV4	ORPHA:2635
HP:0002011	Morphological central nervous system abnormality	9469	CHST3	OMIM:245600
HP:0002011	Morphological central nervous system abnormality	26229	B3GAT3	OMIM:245600
HP:0002011	Morphological central nervous system abnormality	5052	PRDX1	OMIM:277400
HP:0002011	Morphological central nervous system abnormality	51399	TRAPPC4	OMIM:618741
HP:0002011	Morphological central nervous system abnormality	1139	CHRNA7	ORPHA:199318
HP:0002011	Morphological central nervous system abnormality	6228	RPS23	OMIM:617412
HP:0002011	Morphological central nervous system abnormality	5932	RBBP8	OMIM:606744
HP:0002011	Morphological central nervous system abnormality	5932	RBBP8	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	283489	CHAMP1	OMIM:616579
HP:0002011	Morphological central nervous system abnormality	10111	RAD50	OMIM:613078
HP:0002011	Morphological central nervous system abnormality	55681	SCYL2	OMIM:618766
HP:0002011	Morphological central nervous system abnormality	85465	SELENOI	OMIM:618768
HP:0002011	Morphological central nervous system abnormality	85465	SELENOI	ORPHA:506353
HP:0002011	Morphological central nervous system abnormality	5191	PEX7	OMIM:215100
HP:0002011	Morphological central nervous system abnormality	5813	PURA	ORPHA:438216
HP:0002011	Morphological central nervous system abnormality	79718	TBL1XR1	OMIM:602342
HP:0002011	Morphological central nervous system abnormality	6305	SBF1	OMIM:615284
HP:0002011	Morphological central nervous system abnormality	7358	UGDH	OMIM:618792
HP:0002011	Morphological central nervous system abnormality	2904	GRIN2B	OMIM:616139
HP:0002011	Morphological central nervous system abnormality	2904	GRIN2B	OMIM:613970
HP:0002011	Morphological central nervous system abnormality	200424	TET3	OMIM:618798
HP:0002011	Morphological central nervous system abnormality	54916	TMEM260	OMIM:617478
HP:0002011	Morphological central nervous system abnormality	25836	NIPBL	OMIM:122470
HP:0002011	Morphological central nervous system abnormality	25836	NIPBL	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	3155	HMGCL	ORPHA:20
HP:0002011	Morphological central nervous system abnormality	3155	HMGCL	OMIM:246450
HP:0002011	Morphological central nervous system abnormality	54517	PUS7	OMIM:618342
HP:0002011	Morphological central nervous system abnormality	23114	NFASC	OMIM:618356
HP:0002011	Morphological central nervous system abnormality	55777	MBD5	OMIM:156200
HP:0002011	Morphological central nervous system abnormality	55777	MBD5	ORPHA:228402
HP:0002011	Morphological central nervous system abnormality	2334	AFF2	OMIM:309548
HP:0002011	Morphological central nervous system abnormality	3054	HCFC1	OMIM:309541
HP:0002011	Morphological central nervous system abnormality	2019	EN1	OMIM:619218
HP:0002011	Morphological central nervous system abnormality	23111	SPART	ORPHA:101000
HP:0002011	Morphological central nervous system abnormality	4613	MYCN	OMIM:164280
HP:0002011	Morphological central nervous system abnormality	4613	MYCN	ORPHA:391641
HP:0002011	Morphological central nervous system abnormality	51729	WBP11	OMIM:619227
HP:0002011	Morphological central nervous system abnormality	2707	GJB3	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	2531	KDSR	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	127534	GJB4	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	ORPHA:589618
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	OMIM:619934
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	OMIM:617284
HP:0002011	Morphological central nervous system abnormality	27107	ZBTB11	OMIM:618383
HP:0002011	Morphological central nervous system abnormality	8452	CUL3	OMIM:619239
HP:0002011	Morphological central nervous system abnormality	7204	TRIO	OMIM:617061
HP:0002011	Morphological central nervous system abnormality	23112	TNRC6B	OMIM:619243
HP:0002011	Morphological central nervous system abnormality	201595	STT3B	ORPHA:370924
HP:0002011	Morphological central nervous system abnormality	201595	STT3B	OMIM:615597
HP:0002011	Morphological central nervous system abnormality	10436	EMG1	OMIM:211180
HP:0002011	Morphological central nervous system abnormality	10436	EMG1	ORPHA:1270
HP:0002011	Morphological central nervous system abnormality	10479	SLC9A6	ORPHA:85278
HP:0002011	Morphological central nervous system abnormality	10479	SLC9A6	OMIM:300243
HP:0002011	Morphological central nervous system abnormality	8242	KDM5C	ORPHA:85279
HP:0002011	Morphological central nervous system abnormality	8242	KDM5C	OMIM:300534
HP:0002011	Morphological central nervous system abnormality	81615	TMEM163	OMIM:620243
HP:0002011	Morphological central nervous system abnormality	64131	XYLT1	ORPHA:370930
HP:0002011	Morphological central nervous system abnormality	64131	XYLT1	OMIM:615777
HP:0002011	Morphological central nervous system abnormality	55181	SMG8	OMIM:619268
HP:0002011	Morphological central nervous system abnormality	25886	POC1A	OMIM:614813
HP:0002011	Morphological central nervous system abnormality	5138	PDE2A	OMIM:619150
HP:0002011	Morphological central nervous system abnormality	128	ADH5	OMIM:619151
HP:0002011	Morphological central nervous system abnormality	64374	SIL1	OMIM:248800
HP:0002011	Morphological central nervous system abnormality	64374	SIL1	ORPHA:559
HP:0002011	Morphological central nervous system abnormality	26960	NBEA	OMIM:619157
HP:0002011	Morphological central nervous system abnormality	613	BCR	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	1399	CRKL	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	5594	MAPK1	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	5594	MAPK1	OMIM:619087
HP:0002011	Morphological central nervous system abnormality	9640	ZNF592	ORPHA:83472
HP:0002011	Morphological central nervous system abnormality	150468	CKAP2L	ORPHA:3255
HP:0002011	Morphological central nervous system abnormality	150468	CKAP2L	OMIM:272440
HP:0002011	Morphological central nervous system abnormality	3242	HPD	OMIM:140350
HP:0002011	Morphological central nervous system abnormality	338657	CENATAC	OMIM:620153
HP:0002011	Morphological central nervous system abnormality	25778	DSTYK	OMIM:270750
HP:0002011	Morphological central nervous system abnormality	56992	KIF15	ORPHA:261323
HP:0002011	Morphological central nervous system abnormality	56992	KIF15	OMIM:619981
HP:0002011	Morphological central nervous system abnormality	4718	NDUFC2	OMIM:619170
HP:0002011	Morphological central nervous system abnormality	92579	G6PC3	OMIM:612541
HP:0002011	Morphological central nervous system abnormality	222663	SCUBE3	OMIM:619184
HP:0002011	Morphological central nervous system abnormality	23036	ZNF292	OMIM:619188
HP:0002011	Morphological central nervous system abnormality	63894	VIPAS39	OMIM:613404
HP:0002011	Morphological central nervous system abnormality	83879	CDCA7	OMIM:616910
HP:0002011	Morphological central nervous system abnormality	84947	SERAC1	OMIM:614739
HP:0002011	Morphological central nervous system abnormality	54084	TSPEAR	OMIM:620173
HP:0002011	Morphological central nervous system abnormality	23345	SYNE1	ORPHA:319332
HP:0002011	Morphological central nervous system abnormality	3675	ITGA3	OMIM:614748
HP:0002011	Morphological central nervous system abnormality	23137	SMC5	OMIM:620185
HP:0002011	Morphological central nervous system abnormality	79759	ZNF668	OMIM:620194
HP:0002011	Morphological central nervous system abnormality	388015	RTL1	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	8788	DLK1	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	55384	MEG3	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	81887	LAS1L	OMIM:309585
HP:0002011	Morphological central nervous system abnormality	79902	NUP85	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	84126	ATRIP	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	51567	TDP2	OMIM:616949
HP:0002011	Morphological central nervous system abnormality	9990	SLC12A6	ORPHA:1496
HP:0002011	Morphological central nervous system abnormality	9894	TELO2	OMIM:616954
HP:0002011	Morphological central nervous system abnormality	9837	GINS1	OMIM:617827
HP:0002011	Morphological central nervous system abnormality	79840	NHEJ1	ORPHA:169079
HP:0002011	Morphological central nervous system abnormality	197131	UBR1	ORPHA:2315
HP:0002011	Morphological central nervous system abnormality	197131	UBR1	OMIM:243800
HP:0002011	Morphological central nervous system abnormality	55180	LINS1	OMIM:614340
HP:0002011	Morphological central nervous system abnormality	80152	CENPT	OMIM:618702
HP:0002011	Morphological central nervous system abnormality	6697	SPR	ORPHA:70594
HP:0002011	Morphological central nervous system abnormality	6697	SPR	OMIM:612716
HP:0002011	Morphological central nervous system abnormality	6134	RPL10	ORPHA:435938
HP:0002011	Morphological central nervous system abnormality	6134	RPL10	OMIM:300998
HP:0002011	Morphological central nervous system abnormality	6134	RPL10	ORPHA:459070
HP:0002011	Morphological central nervous system abnormality	953	ENTPD1	OMIM:615683
HP:0002011	Morphological central nervous system abnormality	953	ENTPD1	ORPHA:401810
HP:0002011	Morphological central nervous system abnormality	84628	NTNG2	OMIM:618718
HP:0002011	Morphological central nervous system abnormality	55691	FRMD4A	ORPHA:466688
HP:0002011	Morphological central nervous system abnormality	84700	MYO18B	OMIM:616549
HP:0002011	Morphological central nervous system abnormality	2182	ACSL4	OMIM:300387
HP:0002011	Morphological central nervous system abnormality	65057	ACD	OMIM:616553
HP:0002011	Morphological central nervous system abnormality	65057	ACD	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	51763	INPP5K	OMIM:617404
HP:0002011	Morphological central nervous system abnormality	51763	INPP5K	ORPHA:559
HP:0002011	Morphological central nervous system abnormality	246329	STAC3	OMIM:255995
HP:0002011	Morphological central nervous system abnormality	8367	H4C5	OMIM:619950
HP:0002011	Morphological central nervous system abnormality	5361	PLXNA1	OMIM:619955
HP:0002011	Morphological central nervous system abnormality	197	AHSG	ORPHA:2850
HP:0002011	Morphological central nervous system abnormality	3694	ITGB6	ORPHA:2850
HP:0002011	Morphological central nervous system abnormality	28960	DCPS	OMIM:616459
HP:0002011	Morphological central nervous system abnormality	10559	SLC35A1	OMIM:603585
HP:0002011	Morphological central nervous system abnormality	80153	EDC3	OMIM:616460
HP:0002011	Morphological central nervous system abnormality	55870	ASH1L	OMIM:617796
HP:0002011	Morphological central nervous system abnormality	25885	POLR1A	OMIM:616462
HP:0002011	Morphological central nervous system abnormality	816	CAMK2B	OMIM:617799
HP:0002011	Morphological central nervous system abnormality	815	CAMK2A	OMIM:617798
HP:0002011	Morphological central nervous system abnormality	23184	MESD	OMIM:618644
HP:0002011	Morphological central nervous system abnormality	55109	AGGF1	ORPHA:90308
HP:0002011	Morphological central nervous system abnormality	7469	NELFA	ORPHA:280
HP:0002011	Morphological central nervous system abnormality	1501	CTNND2	ORPHA:281
HP:0002011	Morphological central nervous system abnormality	9037	SEMA5A	ORPHA:281
HP:0002011	Morphological central nervous system abnormality	26057	ANKRD17	OMIM:619504
HP:0002011	Morphological central nervous system abnormality	55623	THUMPD1	OMIM:619989
HP:0002011	Morphological central nervous system abnormality	57167	SALL4	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	9935	MAFB	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	1123	CHN1	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	253738	EBF3	OMIM:617330
HP:0002011	Morphological central nervous system abnormality	286	ANK1	ORPHA:251066
HP:0002011	Morphological central nervous system abnormality	5860	QDPR	ORPHA:226
HP:0002011	Morphological central nervous system abnormality	5860	QDPR	OMIM:261630
HP:0002011	Morphological central nervous system abnormality	7385	UQCRC2	OMIM:615160
HP:0002011	Morphological central nervous system abnormality	7750	ZMYM2	OMIM:619522
HP:0002011	Morphological central nervous system abnormality	9922	IQSEC1	OMIM:618687
HP:0002011	Morphological central nervous system abnormality	57479	PRR12	OMIM:619539
HP:0002011	Morphological central nervous system abnormality	1173	AP2M1	ORPHA:1942
HP:0002011	Morphological central nervous system abnormality	1106	CHD2	ORPHA:1942
HP:0002011	Morphological central nervous system abnormality	6529	SLC6A1	ORPHA:1942
HP:0002011	Morphological central nervous system abnormality	6576	SLC25A1	OMIM:615182
HP:0002011	Morphological central nervous system abnormality	5587	PRKD1	OMIM:617364
HP:0002011	Morphological central nervous system abnormality	54808	DYM	ORPHA:239
HP:0002011	Morphological central nervous system abnormality	54808	DYM	OMIM:223800
HP:0002011	Morphological central nervous system abnormality	54808	DYM	OMIM:607326
HP:0002011	Morphological central nervous system abnormality	51750	RTEL1	OMIM:615190
HP:0002011	Morphological central nervous system abnormality	51750	RTEL1	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	30000	TNPO2	OMIM:619556
HP:0002011	Morphological central nervous system abnormality	498	ATP5F1A	OMIM:616045
HP:0002011	Morphological central nervous system abnormality	55869	HDAC8	OMIM:300882
HP:0002011	Morphological central nervous system abnormality	55869	HDAC8	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	92344	GORAB	OMIM:231070
HP:0002011	Morphological central nervous system abnormality	6898	TAT	ORPHA:28378
HP:0002011	Morphological central nervous system abnormality	80324	PUS1	OMIM:600462
HP:0002011	Morphological central nervous system abnormality	80324	PUS1	ORPHA:2598
HP:0002011	Morphological central nervous system abnormality	9496	TBX4	ORPHA:261279
HP:0002011	Morphological central nervous system abnormality	10524	KAT5	OMIM:619103
HP:0002011	Morphological central nervous system abnormality	9451	EIF2AK3	OMIM:226980
HP:0002011	Morphological central nervous system abnormality	9451	EIF2AK3	ORPHA:1667
HP:0002011	Morphological central nervous system abnormality	5000	ORC4	OMIM:613800
HP:0002011	Morphological central nervous system abnormality	5000	ORC4	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	81620	CDT1	OMIM:613804
HP:0002011	Morphological central nervous system abnormality	81620	CDT1	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	23594	ORC6	OMIM:613803
HP:0002011	Morphological central nervous system abnormality	23594	ORC6	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	990	CDC6	OMIM:613805
HP:0002011	Morphological central nervous system abnormality	990	CDC6	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	50814	NSDHL	OMIM:300831
HP:0002011	Morphological central nervous system abnormality	50814	NSDHL	ORPHA:251383
HP:0002011	Morphological central nervous system abnormality	10847	SRCAP	OMIM:619595
HP:0002011	Morphological central nervous system abnormality	55526	DHTKD1	OMIM:204750
HP:0002011	Morphological central nervous system abnormality	526	ATP6V1B2	ORPHA:79500
HP:0002011	Morphological central nervous system abnormality	90416	CCDC32	OMIM:619123
HP:0002011	Morphological central nervous system abnormality	3739	KCNA4	OMIM:618284
HP:0002011	Morphological central nervous system abnormality	8665	EIF3F	OMIM:618295
HP:0002011	Morphological central nervous system abnormality	221692	PHACTR1	OMIM:618298
HP:0002011	Morphological central nervous system abnormality	3763	KCNJ6	ORPHA:435628
HP:0002011	Morphological central nervous system abnormality	3763	KCNJ6	OMIM:614098
HP:0002011	Morphological central nervous system abnormality	55325	UFSP2	OMIM:620028
HP:0002011	Morphological central nervous system abnormality	5111	PCNA	OMIM:615919
HP:0002011	Morphological central nervous system abnormality	5111	PCNA	ORPHA:438134
HP:0002011	Morphological central nervous system abnormality	183	AGT	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	5972	REN	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	185	AGTR1	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	1636	ACE	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	54968	TMEM70	ORPHA:1194
HP:0002011	Morphological central nervous system abnormality	5689	PSMB1	OMIM:620038
HP:0002011	Morphological central nervous system abnormality	10472	ZBTB18	ORPHA:36367
HP:0002011	Morphological central nervous system abnormality	10472	ZBTB18	OMIM:612337
HP:0002011	Morphological central nervous system abnormality	7298	TYMS	OMIM:620040
HP:0002011	Morphological central nervous system abnormality	4212	MEIS2	OMIM:600987
HP:0002011	Morphological central nervous system abnormality	4212	MEIS2	ORPHA:261190
HP:0002011	Morphological central nervous system abnormality	26053	AUTS2	ORPHA:352490
HP:0002011	Morphological central nervous system abnormality	26053	AUTS2	OMIM:615834
HP:0002011	Morphological central nervous system abnormality	1802	DPH2	OMIM:620062
HP:0002011	Morphological central nervous system abnormality	92667	MGME1	ORPHA:352447
HP:0002011	Morphological central nervous system abnormality	92667	MGME1	OMIM:615084
HP:0002011	Morphological central nervous system abnormality	55027	HEATR3	OMIM:620072
HP:0002011	Morphological central nervous system abnormality	5700	PSMC1	OMIM:620071
HP:0002011	Morphological central nervous system abnormality	3187	HNRNPH1	OMIM:620083
HP:0002011	Morphological central nervous system abnormality	5073	PARN	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	5073	PARN	OMIM:616353
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	OMIM:613990
HP:0002011	Morphological central nervous system abnormality	1736	DKC1	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	1736	DKC1	OMIM:305000
HP:0002011	Morphological central nervous system abnormality	92154	MTSS2	OMIM:620086
HP:0002011	Morphological central nervous system abnormality	197322	ACSF3	ORPHA:289504
HP:0002011	Morphological central nervous system abnormality	2702	GJA5	OMIM:612474
HP:0002011	Morphological central nervous system abnormality	2703	GJA8	OMIM:612474
HP:0002011	Morphological central nervous system abnormality	55690	PACS1	ORPHA:329224
HP:0002011	Morphological central nervous system abnormality	10664	CTCF	OMIM:615502
HP:0002011	Morphological central nervous system abnormality	10664	CTCF	ORPHA:363611
HP:0002011	Morphological central nervous system abnormality	6307	MSMO1	OMIM:616834
HP:0002011	Morphological central nervous system abnormality	1828	DSG1	OMIM:615508
HP:0002011	Morphological central nervous system abnormality	3720	JARID2	OMIM:620098
HP:0002011	Morphological central nervous system abnormality	55784	MCTP2	ORPHA:1596
HP:0002011	Morphological central nervous system abnormality	6301	SARS1	OMIM:617709
HP:0002011	Morphological central nervous system abnormality	55997	CFC1	OMIM:605376
HP:0002011	Morphological central nervous system abnormality	26224	FBXL3	OMIM:606220
HP:0002011	Morphological central nervous system abnormality	83987	CCDC8	OMIM:614205
HP:0002011	Morphological central nervous system abnormality	23443	SLC35A3	OMIM:615553
HP:0002011	Morphological central nervous system abnormality	202018	TAPT1	OMIM:616897
HP:0002011	Morphological central nervous system abnormality	6591	SNAI2	ORPHA:2884
HP:0002011	Morphological central nervous system abnormality	3815	KIT	ORPHA:2884
HP:0002011	Morphological central nervous system abnormality	3756	KCNH1	ORPHA:420561
HP:0002011	Morphological central nervous system abnormality	9320	TRIP12	OMIM:617752
HP:0002011	Morphological central nervous system abnormality	1663	DDX11	OMIM:613398
HP:0002011	Morphological central nervous system abnormality	23498	HAAO	OMIM:617660
HP:0002011	Morphological central nervous system abnormality	8942	KYNU	OMIM:617661
HP:0002011	Morphological central nervous system abnormality	3149	HMGB3	OMIM:300915
HP:0002011	Morphological central nervous system abnormality	288	ANK3	OMIM:615493
HP:0002011	Morphological central nervous system abnormality	7994	KAT6A	ORPHA:457193
HP:0002011	Morphological central nervous system abnormality	7994	KAT6A	OMIM:616268
HP:0002011	Morphological central nervous system abnormality	788	SLC25A20	ORPHA:159
HP:0002011	Morphological central nervous system abnormality	5590	PRKCZ	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	2563	GABRD	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	8510	MMP23B	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	7798	LUZP1	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	10630	PDPN	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	10277	UBE4B	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	8514	KCNAB2	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	63976	PRDM16	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	54897	CASZ1	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	83479	DDX59	ORPHA:2919
HP:0002011	Morphological central nervous system abnormality	83479	DDX59	OMIM:174300
HP:0002011	Morphological central nervous system abnormality	56098	PCDHGC4	OMIM:619880
HP:0002011	Morphological central nervous system abnormality	4285	MIPEP	OMIM:617228
HP:0002011	Morphological central nervous system abnormality	641	BLM	OMIM:210900
HP:0002011	Morphological central nervous system abnormality	84295	PHF6	ORPHA:127
HP:0002011	Morphological central nervous system abnormality	84295	PHF6	OMIM:301900
HP:0002011	Morphological central nervous system abnormality	6135	RPL11	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6138	RPL15	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6229	RPS24	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6125	RPL5	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6204	RPS10	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6224	RPS20	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6165	RPL35A	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	2623	GATA1	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6223	RPS19	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6223	RPS19	OMIM:105650
HP:0002011	Morphological central nervous system abnormality	6232	RPS27	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6231	RPS26	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	11224	RPL35	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6160	RPL31	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6218	RPS17	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6201	RPS7	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6155	RPL27	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6154	RPL26	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6210	RPS15A	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	90121	TSR2	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6141	RPL18	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6235	RPS29	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6234	RPS28	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	55656	INTS8	OMIM:618572
HP:0002011	Morphological central nervous system abnormality	389827	MYMK	OMIM:254940
HP:0002011	Morphological central nervous system abnormality	389827	MYMK	ORPHA:1358
HP:0002011	Morphological central nervous system abnormality	51574	LARP7	OMIM:615071
HP:0002011	Morphological central nervous system abnormality	84894	LINGO1	OMIM:618103
HP:0002011	Morphological central nervous system abnormality	8473	OGT	OMIM:300997
HP:0002011	Morphological central nervous system abnormality	6418	SET	OMIM:618106
HP:0002011	Morphological central nervous system abnormality	1120	CHKB	OMIM:602541
HP:0002011	Morphological central nervous system abnormality	4041	LRP5	OMIM:259770
HP:0002011	Morphological central nervous system abnormality	4041	LRP5	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	51132	RLIM	OMIM:300978
HP:0002011	Morphological central nervous system abnormality	4998	ORC1	OMIM:224690
HP:0002011	Morphological central nervous system abnormality	4998	ORC1	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	27341	RRP7A	OMIM:619453
HP:0002011	Morphological central nervous system abnormality	3376	IARS1	ORPHA:541423
HP:0002011	Morphological central nervous system abnormality	538	ATP7A	ORPHA:565
HP:0002011	Morphological central nervous system abnormality	538	ATP7A	OMIM:309400
HP:0002011	Morphological central nervous system abnormality	92949	ADAMTSL1	ORPHA:521445
HP:0002011	Morphological central nervous system abnormality	55651	NHP2	OMIM:224230
HP:0002011	Morphological central nervous system abnormality	55505	NOP10	OMIM:224230
HP:0002011	Morphological central nervous system abnormality	7227	TRPS1	ORPHA:502
HP:0002011	Morphological central nervous system abnormality	374879	ZNF699	OMIM:619488
HP:0002011	Morphological central nervous system abnormality	60676	PAPPA2	OMIM:619489
HP:0002011	Morphological central nervous system abnormality	407975	MIR17HG	ORPHA:391646
HP:0002011	Morphological central nervous system abnormality	63899	NSUN3	OMIM:619012
HP:0002011	Morphological central nervous system abnormality	2193	FARSA	OMIM:619013
HP:0002011	Morphological central nervous system abnormality	5557	PRIM1	OMIM:620005
HP:0002011	Morphological central nervous system abnormality	64432	MRPS25	OMIM:619025
HP:0002011	Morphological central nervous system abnormality	55294	FBXW7	OMIM:620012
HP:0002011	Morphological central nervous system abnormality	10225	CD96	OMIM:211750
HP:0002011	Morphological central nervous system abnormality	10225	CD96	ORPHA:1308
HP:0002011	Morphological central nervous system abnormality	1763	DNA2	OMIM:615807
HP:0002011	Morphological central nervous system abnormality	80204	FBXO11	OMIM:618089
HP:0002011	Morphological central nervous system abnormality	23325	WASHC4	OMIM:615817
HP:0002011	Morphological central nervous system abnormality	7156	TOP3A	OMIM:618097
HP:0002011	Morphological central nervous system abnormality	1009	CDH11	ORPHA:1299
HP:0002011	Morphological central nervous system abnormality	51067	YARS2	ORPHA:2598
HP:0002011	Morphological central nervous system abnormality	79228	THOC6	OMIM:613680
HP:0002011	Morphological central nervous system abnormality	219285	SAMD9L	ORPHA:2585
HP:0002011	Morphological central nervous system abnormality	5648	MASP1	OMIM:257920
HP:0002011	Morphological central nervous system abnormality	26115	TANC2	OMIM:618906
HP:0002011	Morphological central nervous system abnormality	54101	RIPK4	ORPHA:1234
HP:0002011	Morphological central nervous system abnormality	3176	HNMT	OMIM:616739
HP:0002011	Morphological central nervous system abnormality	3759	KCNJ2	OMIM:170390
HP:0002011	Morphological central nervous system abnormality	100506658	OCLN	ORPHA:1229
HP:0002011	Morphological central nervous system abnormality	100506658	OCLN	OMIM:251290
HP:0002011	Morphological central nervous system abnormality	23476	BRD4	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	9126	SMC3	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	1861	TOR1A	OMIM:618947
HP:0002011	Morphological central nervous system abnormality	51520	LARS1	OMIM:615438
HP:0002011	Morphological central nervous system abnormality	55617	TASP1	OMIM:618950
HP:0002011	Morphological central nervous system abnormality	60528	ELAC2	OMIM:615440
HP:0002011	Morphological central nervous system abnormality	28957	MRPS28	OMIM:618958
HP:0002011	Morphological central nervous system abnormality	7991	TUSC3	OMIM:611093
HP:0002011	Morphological central nervous system abnormality	1804	DPP6	ORPHA:2514
HP:0002011	Morphological central nervous system abnormality	1804	DPP6	OMIM:616311
HP:0002011	Morphological central nervous system abnormality	4621	MYH3	ORPHA:2990
HP:0002011	Morphological central nervous system abnormality	4621	MYH3	OMIM:178110
HP:0002011	Morphological central nervous system abnormality	4621	MYH3	OMIM:193700
HP:0002011	Morphological central nervous system abnormality	1146	CHRNG	ORPHA:2990
HP:0002011	Morphological central nervous system abnormality	55367	PIDD1	OMIM:619827
HP:0002011	Morphological central nervous system abnormality	3021	H3-3B	OMIM:619721
HP:0002011	Morphological central nervous system abnormality	4056	LTC4S	OMIM:614037
HP:0002011	Morphological central nervous system abnormality	72	ACTG2	ORPHA:2604
HP:0002011	Morphological central nervous system abnormality	472	ATM	OMIM:208900
HP:0002011	Morphological central nervous system abnormality	3781	KCNN2	OMIM:619725
HP:0002011	Morphological central nervous system abnormality	137492	VPS37A	ORPHA:319199
HP:0002011	Morphological central nervous system abnormality	2590	GALNT2	OMIM:618885
HP:0002011	Morphological central nervous system abnormality	51319	RSRC1	OMIM:618402
HP:0002011	Morphological central nervous system abnormality	23761	PISD	OMIM:618889
HP:0002011	Morphological central nervous system abnormality	7020	TFAP2A	OMIM:113620
HP:0002011	Morphological central nervous system abnormality	339983	NAT8L	OMIM:614063
HP:0002011	Morphological central nervous system abnormality	8879	SGPL1	OMIM:617575
HP:0002011	Morphological central nervous system abnormality	8364	H4C3	OMIM:619758
HP:0002011	Morphological central nervous system abnormality	145258	GSC	OMIM:602471
HP:0002011	Morphological central nervous system abnormality	9993	DGCR2	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	8220	ESS2	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	8214	DGCR6	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	54487	DGCR8	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	6878	TAF6	OMIM:617126
HP:0002011	Morphological central nervous system abnormality	54892	NCAPG2	OMIM:618460
HP:0002011	Morphological central nervous system abnormality	51728	POLR3K	OMIM:619310
HP:0002011	Morphological central nervous system abnormality	6650	CAPN15	OMIM:619318
HP:0002011	Morphological central nervous system abnormality	221496	LEMD2	OMIM:619322
HP:0002011	Morphological central nervous system abnormality	4081	MAB21L1	OMIM:618479
HP:0002011	Morphological central nervous system abnormality	2530	FUT8	OMIM:618005
HP:0002011	Morphological central nervous system abnormality	26276	VPS33B	OMIM:208085
HP:0002011	Morphological central nervous system abnormality	372	ARCN1	OMIM:617164
HP:0002011	Morphological central nervous system abnormality	54681	P4HTM	OMIM:618493
HP:0002011	Morphological central nervous system abnormality	37	ACADVL	OMIM:201475
HP:0002011	Morphological central nervous system abnormality	5281	PIGF	OMIM:619356
HP:0002011	Morphological central nervous system abnormality	10681	GNB5	OMIM:617182
HP:0002011	Morphological central nervous system abnormality	79143	MBOAT7	OMIM:617188
HP:0002011	Morphological central nervous system abnormality	627	BDNF	ORPHA:893
HP:0002011	Morphological central nervous system abnormality	23554	TSPAN12	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	79797	ZNF408	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	8322	FZD4	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	11011	TLK2	OMIM:618050
HP:0002011	Morphological central nervous system abnormality	81555	YIPF5	OMIM:619278
HP:0002011	Morphological central nervous system abnormality	3899	AFF3	OMIM:619297
HP:0002011	Morphological central nervous system abnormality	36	ACADSB	OMIM:610006
HP:0002011	Morphological central nervous system abnormality	8546	AP3B1	OMIM:608233
HP:0002011	Morphological central nervous system abnormality	51199	NIN	OMIM:614851
HP:0002011	Morphological central nervous system abnormality	51199	NIN	ORPHA:319675
HP:0002011	Morphological central nervous system abnormality	197257	LDHD	OMIM:245450
HP:0002011	Morphological central nervous system abnormality	375748	ERCC6L2	OMIM:615715
HP:0002011	Morphological central nervous system abnormality	10280	SIGMAR1	ORPHA:300605
HP:0002011	Morphological central nervous system abnormality	10558	SPTLC1	ORPHA:300605
HP:0002011	Morphological central nervous system abnormality	162417	NAGS	ORPHA:927
HP:0002011	Morphological central nervous system abnormality	50628	GEMIN4	OMIM:617913
HP:0002011	Morphological central nervous system abnormality	867	CBL	OMIM:613563
HP:0002011	Morphological central nervous system abnormality	7507	XPA	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	7507	XPA	OMIM:278700
HP:0002011	Morphological central nervous system abnormality	7508	XPC	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	1643	DDB2	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	55187	VPS13D	OMIM:607317
HP:0002011	Morphological central nervous system abnormality	10157	AASS	ORPHA:2203
HP:0002011	Morphological central nervous system abnormality	5429	POLH	OMIM:278750
HP:0002011	Morphological central nervous system abnormality	101929726	MYMX	ORPHA:1358
HP:0002011	Morphological central nervous system abnormality	20	ABCA2	OMIM:618808
HP:0002011	Morphological central nervous system abnormality	6785	ELOVL4	OMIM:614457
HP:0002011	Morphological central nervous system abnormality	2584	GALK1	ORPHA:79237
HP:0002011	Morphological central nervous system abnormality	54870	QRICH1	OMIM:617982
HP:0002011	Morphological central nervous system abnormality	23397	NCAPH	OMIM:617985
HP:0002011	Morphological central nervous system abnormality	158326	FREM1	OMIM:614485
HP:0002011	Morphological central nervous system abnormality	23133	PHF8	OMIM:300263
HP:0002011	Morphological central nervous system abnormality	51733	UPB1	OMIM:613161
HP:0002011	Morphological central nervous system abnormality	23001	WDFY3	OMIM:617520
HP:0002011	Morphological central nervous system abnormality	35	ACADS	ORPHA:26792
HP:0002011	Morphological central nervous system abnormality	91452	ACBD5	OMIM:618863
HP:0002011	Morphological central nervous system abnormality	51660	MPC1	OMIM:614741
HP:0002011	Morphological central nervous system abnormality	8818	DPM2	ORPHA:329178
HP:0002011	Morphological central nervous system abnormality	22845	DOLK	ORPHA:91131
HP:0002011	Morphological central nervous system abnormality	4247	MGAT2	ORPHA:79329
HP:0002011	Morphological central nervous system abnormality	8318	CDC45	OMIM:617063
HP:0002011	Morphological central nervous system abnormality	4190	MDH1	OMIM:618959
HP:0002011	Morphological central nervous system abnormality	54862	CC2D1A	OMIM:608443
HP:0002011	Morphological central nervous system abnormality	63908	NAPB	OMIM:620033
HP:0002011	Morphological central nervous system abnormality	9342	SNAP29	OMIM:609528
HP:0002011	Morphological central nervous system abnormality	203190	LGI3	OMIM:620007
HP:0002011	Morphological central nervous system abnormality	51294	PCDH12	OMIM:251280
HP:0002011	Morphological central nervous system abnormality	3913	LAMB2	OMIM:609049
HP:0002011	Morphological central nervous system abnormality	84342	COG8	ORPHA:95428
HP:0002011	Morphological central nervous system abnormality	9343	EFTUD2	OMIM:610536
HP:0002011	Morphological central nervous system abnormality	220	ALDH1A3	OMIM:615113
HP:0002011	Morphological central nervous system abnormality	775	CACNA1C	OMIM:620029
HP:0002011	Morphological central nervous system abnormality	84282	RNF135	ORPHA:137634
HP:0002011	Morphological central nervous system abnormality	1788	DNMT3A	OMIM:615879
HP:0002011	Morphological central nervous system abnormality	51807	TUBA8	ORPHA:250972
HP:0002011	Morphological central nervous system abnormality	8854	ALDH1A2	OMIM:620025
HP:0002011	Morphological central nervous system abnormality	8405	SPOP	OMIM:618828
HP:0002011	Morphological central nervous system abnormality	5293	PIK3CD	ORPHA:221139
HP:0002011	Morphological central nervous system abnormality	90417	KNSTRN	ORPHA:221139
HP:0002011	Morphological central nervous system abnormality	415	ARSL	ORPHA:79345
HP:0002011	Morphological central nervous system abnormality	256297	PTF1A	OMIM:609069
HP:0002011	Morphological central nervous system abnormality	256297	PTF1A	ORPHA:65288
HP:0002011	Morphological central nervous system abnormality	55210	ATAD3A	ORPHA:496790
HP:0002011	Morphological central nervous system abnormality	57459	GATAD2B	ORPHA:363686
HP:0002011	Morphological central nervous system abnormality	5605	MAP2K2	OMIM:615280
HP:0002011	Morphological central nervous system abnormality	8443	GNPAT	OMIM:222765
HP:0002011	Morphological central nervous system abnormality	8882	ZPR1	OMIM:619321
HP:0002011	Morphological central nervous system abnormality	55215	FANCI	OMIM:609053
HP:0002011	Morphological central nervous system abnormality	10730	YME1L1	OMIM:617302
HP:0002011	Morphological central nervous system abnormality	5500	PPP1CB	OMIM:617506
HP:0002011	Morphological central nervous system abnormality	1063	CENPF	OMIM:243605
HP:0002011	Morphological central nervous system abnormality	9401	RECQL4	OMIM:218600
HP:0002011	Morphological central nervous system abnormality	80173	IFT74	OMIM:619582
HP:0002011	Morphological central nervous system abnormality	7545	ZIC1	OMIM:618736
HP:0002011	Morphological central nervous system abnormality	4791	NFKB2	ORPHA:293978
HP:0002011	Morphological central nervous system abnormality	4791	NFKB2	OMIM:615577
HP:0002011	Morphological central nervous system abnormality	6909	TBX2	OMIM:618223
HP:0002011	Morphological central nervous system abnormality	5122	PCSK1	ORPHA:71528
HP:0002011	Morphological central nervous system abnormality	22800	RRAS2	OMIM:618624
HP:0002011	Morphological central nervous system abnormality	8675	STX16	ORPHA:94089
HP:0002011	Morphological central nervous system abnormality	7681	MKRN3	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	3653	IPW	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	791114	PWRN1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	100033413	SNORD116-1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	8924	HERC2	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	145624	PWAR1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	23742	NPAP1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	338433	SNORD115-1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	27125	AFF4	ORPHA:444077
HP:0002011	Morphological central nervous system abnormality	55315	SLC29A3	OMIM:602782
HP:0002011	Morphological central nervous system abnormality	55159	RFWD3	OMIM:617784
HP:0002011	Morphological central nervous system abnormality	2693	GHSR	OMIM:615925
HP:0002011	Morphological central nervous system abnormality	134218	DNAJC21	ORPHA:811
HP:0002011	Morphological central nervous system abnormality	79631	EFL1	ORPHA:811
HP:0002011	Morphological central nervous system abnormality	51119	SBDS	ORPHA:811
HP:0002011	Morphological central nervous system abnormality	6729	SRP54	ORPHA:811
HP:0002011	Morphological central nervous system abnormality	2188	FANCF	OMIM:603467
HP:0002011	Morphological central nervous system abnormality	6777	STAT5B	OMIM:245590
HP:0002011	Morphological central nervous system abnormality	9581	PREPL	OMIM:616224
HP:0002011	Morphological central nervous system abnormality	55699	IARS2	ORPHA:436174
HP:0002011	Morphological central nervous system abnormality	55699	IARS2	OMIM:616007
HP:0002011	Morphological central nervous system abnormality	79184	BRCC3	ORPHA:280679
HP:0002011	Morphological central nervous system abnormality	5308	PITX2	OMIM:180500
HP:0002011	Morphological central nervous system abnormality	7840	ALMS1	OMIM:203800
HP:0002011	Morphological central nervous system abnormality	7840	ALMS1	ORPHA:64
HP:0002011	Morphological central nervous system abnormality	157680	VPS13B	OMIM:216550
HP:0002011	Morphological central nervous system abnormality	5718	PSMD12	ORPHA:529962
HP:0002011	Morphological central nervous system abnormality	2186	BPTF	ORPHA:529962
HP:0002011	Morphological central nervous system abnormality	4297	KMT2A	ORPHA:319182
HP:0002011	Morphological central nervous system abnormality	2783	GNB2	OMIM:619503
HP:0002011	Morphological central nervous system abnormality	1028	CDKN1C	OMIM:614732
HP:0002011	Morphological central nervous system abnormality	54	ACP5	ORPHA:1855
HP:0002011	Morphological central nervous system abnormality	9056	SLC7A7	ORPHA:470
HP:0002011	Morphological central nervous system abnormality	80067	DCAF17	ORPHA:3464
HP:0002011	Morphological central nervous system abnormality	2887	GRB10	ORPHA:96182
HP:0002011	Morphological central nervous system abnormality	695	BTK	OMIM:307200
HP:0002011	Morphological central nervous system abnormality	5144	PDE4D	ORPHA:280651
HP:0002011	Morphological central nervous system abnormality	79644	SRD5A3	ORPHA:324737
HP:0002011	Morphological central nervous system abnormality	5426	POLE	OMIM:618336
HP:0002011	Morphological central nervous system abnormality	51053	GMNN	OMIM:616835
HP:0002011	Morphological central nervous system abnormality	6664	SOX11	OMIM:615866
HP:0002011	Morphological central nervous system abnormality	7080	NKX2-1	OMIM:610978
HP:0002011	Morphological central nervous system abnormality	157570	ESCO2	OMIM:216100
HP:0002011	Morphological central nervous system abnormality	29926	GMPPA	ORPHA:869
HP:0002011	Morphological central nervous system abnormality	8086	AAAS	ORPHA:869
HP:0002011	Morphological central nervous system abnormality	60401	EDA2R	ORPHA:181
HP:0002011	Morphological central nervous system abnormality	1896	EDA	ORPHA:181
HP:0002011	Morphological central nervous system abnormality	4509	MT-ATP8	ORPHA:480
HP:0002011	Morphological central nervous system abnormality	340719	NANOS1	ORPHA:399808
HP:0002011	Morphological central nervous system abnormality	340719	NANOS1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	668	FOXL2	OMIM:110100
HP:0002011	Morphological central nervous system abnormality	2492	FSHR	ORPHA:64739
HP:0002011	Morphological central nervous system abnormality	2492	FSHR	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2492	FSHR	OMIM:233300
HP:0002011	Morphological central nervous system abnormality	3973	LHCGR	OMIM:238320
HP:0002011	Morphological central nervous system abnormality	29893	PSMC3IP	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	171568	POLR3H	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2516	NR5A1	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2516	NR5A1	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	2516	NR5A1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	125150	ZSWIM7	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	9210	BMP15	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	23514	SPIDR	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	646	BNC1	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2099	ESR1	ORPHA:785
HP:0002011	Morphological central nervous system abnormality	23395	LARS2	OMIM:615300
HP:0002011	Morphological central nervous system abnormality	2332	FMR1	OMIM:311360
HP:0002011	Morphological central nervous system abnormality	6736	SRY	ORPHA:1772
HP:0002011	Morphological central nervous system abnormality	6736	SRY	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	6845	VAMP7	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	4214	MAP3K1	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	58524	DMRT3	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	57647	DHX37	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	23414	ZFPM2	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	190	NR0B1	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	2626	GATA4	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	56154	TEX15	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	6875	TAF4B	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	56155	TEX14	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	7516	XRCC2	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	254528	MEIOB	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	91057	CCDC34	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	402381	SOHLH1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	317719	KLHL10	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	56159	TEX11	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	57697	FANCM	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	1080	CFTR	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	84225	ZMYND15	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	122402	TDRD9	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	154197	PNLDC1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	93426	SYCE1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	50511	SYCP3	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	50846	DHH	ORPHA:168563
HP:0002011	Morphological central nervous system abnormality	3248	HPGD	ORPHA:2796
HP:0002011	Morphological central nervous system abnormality	6578	SLCO2A1	ORPHA:2796
HP:0002011	Morphological central nervous system abnormality	3767	KCNJ11	ORPHA:79644
HP:0002011	Morphological central nervous system abnormality	3479	IGF1	OMIM:608747
HP:0002011	Morphological central nervous system abnormality	551	AVP	OMIM:125700
HP:0002011	Morphological central nervous system abnormality	8626	TP63	OMIM:604292
HP:0002011	Morphological central nervous system abnormality	5373	PMM2	ORPHA:79318
HP:0002011	Morphological central nervous system abnormality	55154	MSTO1	OMIM:617675
HP:0002011	Morphological central nervous system abnormality	55154	MSTO1	ORPHA:502423
HP:0002011	Morphological central nervous system abnormality	2778	GNAS	OMIM:174800
HP:0002011	Morphological central nervous system abnormality	2778	GNAS	ORPHA:562
HP:0002011	Morphological central nervous system abnormality	5618	PRLR	OMIM:615555
HP:0002011	Morphological central nervous system abnormality	7201	TRHR	ORPHA:99832
HP:0002011	Morphological central nervous system abnormality	64072	CDH23	ORPHA:91347
HP:0002011	Morphological central nervous system abnormality	7252	TSHB	ORPHA:90674
HP:0002011	Morphological central nervous system abnormality	8567	MADD	OMIM:619004
HP:0002011	Morphological central nervous system abnormality	23646	PLD3	OMIM:617770
HP:0002011	Morphological central nervous system abnormality	4099	MAG	OMIM:616680
HP:0002011	Morphological central nervous system abnormality	23446	SLC44A1	OMIM:618868
HP:0002011	Morphological central nervous system abnormality	10026	PIGK	OMIM:618879
HP:0002011	Morphological central nervous system abnormality	146057	TTBK2	OMIM:604432
HP:0002011	Morphological central nervous system abnormality	8560	DEGS1	OMIM:618404
HP:0002011	Morphological central nervous system abnormality	343641	TGM6	ORPHA:276193
HP:0002011	Morphological central nervous system abnormality	343641	TGM6	OMIM:613908
HP:0002011	Morphological central nervous system abnormality	10715	CERS1	OMIM:616230
HP:0002011	Morphological central nervous system abnormality	10935	PRDX3	OMIM:619862
HP:0002011	Morphological central nervous system abnormality	54840	APTX	OMIM:208920
HP:0002011	Morphological central nervous system abnormality	950	SCARB2	OMIM:254900
HP:0002011	Morphological central nervous system abnormality	3766	KCNJ10	ORPHA:199343
HP:0002011	Morphological central nervous system abnormality	3766	KCNJ10	OMIM:612780
HP:0002011	Morphological central nervous system abnormality	146227	BEAN1	ORPHA:217012
HP:0002011	Morphological central nervous system abnormality	146227	BEAN1	OMIM:117210
HP:0002011	Morphological central nervous system abnormality	197258	FCSK	OMIM:618324
HP:0002011	Morphological central nervous system abnormality	23102	TBC1D2B	OMIM:619323
HP:0002011	Morphological central nervous system abnormality	25929	GEMIN5	OMIM:619333
HP:0002011	Morphological central nervous system abnormality	3746	KCNC1	OMIM:616187
HP:0002011	Morphological central nervous system abnormality	1938	EEF2	ORPHA:101112
HP:0002011	Morphological central nervous system abnormality	1938	EEF2	OMIM:609306
HP:0002011	Morphological central nervous system abnormality	65260	COA7	OMIM:618387
HP:0002011	Morphological central nervous system abnormality	23316	CUX2	OMIM:618141
HP:0002011	Morphological central nervous system abnormality	2799	GNS	OMIM:252940
HP:0002011	Morphological central nervous system abnormality	383	ARG1	OMIM:207800
HP:0002011	Morphological central nervous system abnormality	84274	COQ5	OMIM:619028
HP:0002011	Morphological central nervous system abnormality	64858	DCLRE1B	OMIM:620133
HP:0002011	Morphological central nervous system abnormality	55129	ANO10	OMIM:613728
HP:0002011	Morphological central nervous system abnormality	55129	ANO10	ORPHA:284289
HP:0002011	Morphological central nervous system abnormality	26090	ABHD12	OMIM:612674
HP:0002011	Morphological central nervous system abnormality	9711	RUBCN	OMIM:615705
HP:0002011	Morphological central nervous system abnormality	7915	ALDH5A1	OMIM:271980
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	OMIM:620174
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	ORPHA:98764
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	OMIM:193003
HP:0002011	Morphological central nervous system abnormality	3475	IFRD1	ORPHA:98771
HP:0002011	Morphological central nervous system abnormality	3752	KCND3	ORPHA:98772
HP:0002011	Morphological central nervous system abnormality	3752	KCND3	OMIM:607346
HP:0002011	Morphological central nervous system abnormality	7274	TTPA	OMIM:277460
HP:0002011	Morphological central nervous system abnormality	79628	SH3TC2	ORPHA:99949
HP:0002011	Morphological central nervous system abnormality	80207	OPA3	ORPHA:67036
HP:0002011	Morphological central nervous system abnormality	27235	COQ2	OMIM:607426
HP:0002011	Morphological central nervous system abnormality	63035	BCORL1	OMIM:301029
HP:0002011	Morphological central nervous system abnormality	9512	PMPCB	OMIM:617954
HP:0002011	Morphological central nervous system abnormality	7515	XRCC1	OMIM:617633
HP:0002011	Morphological central nervous system abnormality	2196	FAT2	OMIM:617769
HP:0002011	Morphological central nervous system abnormality	55904	KMT2E	OMIM:618512
HP:0002011	Morphological central nervous system abnormality	3476	IGBP1	OMIM:300472
HP:0002011	Morphological central nervous system abnormality	3476	IGBP1	ORPHA:52055
HP:0002011	Morphological central nervous system abnormality	1024	CDK8	OMIM:618748
HP:0002011	Morphological central nervous system abnormality	2731	GLDC	OMIM:605899
HP:0002011	Morphological central nervous system abnormality	275	AMT	OMIM:605899
HP:0002011	Morphological central nervous system abnormality	129563	DIS3L2	OMIM:267000
HP:0002011	Morphological central nervous system abnormality	23512	SUZ12	OMIM:618786
HP:0002011	Morphological central nervous system abnormality	6558	SLC12A2	OMIM:619083
HP:0002011	Morphological central nervous system abnormality	164	AP1G1	OMIM:619548
HP:0002011	Morphological central nervous system abnormality	2657	GDF1	OMIM:208530
HP:0002011	Morphological central nervous system abnormality	8449	DHX16	OMIM:618733
HP:0002011	Morphological central nervous system abnormality	26191	PTPN22	ORPHA:397
HP:0002011	Morphological central nervous system abnormality	26191	PTPN22	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	8974	P4HA2	ORPHA:397
HP:0002011	Morphological central nervous system abnormality	64170	CARD9	OMIM:212050
HP:0002011	Morphological central nervous system abnormality	7454	WAS	ORPHA:906
HP:0002011	Morphological central nervous system abnormality	7456	WIPF1	ORPHA:906
HP:0002011	Morphological central nervous system abnormality	1493	CTLA4	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	3115	HLA-DPB1	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	5657	PRTN3	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	3113	HLA-DPA1	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	1776	DNASE1L3	ORPHA:36412
HP:0002011	Morphological central nervous system abnormality	596	BCL2	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	3492	IGH	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	604	BCL6	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	5896	RAG1	OMIM:601457
HP:0002011	Morphological central nervous system abnormality	5897	RAG2	OMIM:601457
HP:0002011	Morphological central nervous system abnormality	58484	NLRC4	OMIM:616050
HP:0002011	Morphological central nervous system abnormality	3718	JAK3	OMIM:600802
HP:0002011	Morphological central nervous system abnormality	629	CFB	OMIM:615561
HP:0002011	Morphological central nervous system abnormality	3543	IGLL1	OMIM:613500
HP:0002011	Morphological central nervous system abnormality	3543	IGLL1	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	732	C8B	OMIM:613789
HP:0002011	Morphological central nervous system abnormality	114548	NLRP3	OMIM:607115
HP:0002011	Morphological central nervous system abnormality	114548	NLRP3	ORPHA:1451
HP:0002011	Morphological central nervous system abnormality	1536	CYBB	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	4688	NCF2	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	1535	CYBA	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	4689	NCF4	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	79415	CYBC1	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	2215	FCGR3B	ORPHA:464370
HP:0002011	Morphological central nervous system abnormality	23495	TNFRSF13B	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	115650	TNFRSF13C	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	1380	CR2	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	29851	ICOS	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	930	CD19	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	7037	TFRC	OMIM:616740
HP:0002011	Morphological central nervous system abnormality	731	C8A	OMIM:613790
HP:0002011	Morphological central nervous system abnormality	57591	MRTFA	OMIM:618847
HP:0002011	Morphological central nervous system abnormality	10095	ARPC1B	OMIM:617718
HP:0002011	Morphological central nervous system abnormality	7852	CXCR4	ORPHA:51636
HP:0002011	Morphological central nervous system abnormality	721	C4B	OMIM:614379
HP:0002011	Morphological central nervous system abnormality	6688	SPI1	OMIM:619707
HP:0002011	Morphological central nervous system abnormality	6929	TCF3	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	973	CD79A	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	974	CD79B	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	3507	IGHM	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	29760	BLNK	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	5295	PIK3R1	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	56262	LRRC8A	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	6331	SCN5A	OMIM:614022
HP:0002011	Morphological central nervous system abnormality	6331	SCN5A	OMIM:601154
HP:0002011	Morphological central nervous system abnormality	7148	TNXB	ORPHA:230839
HP:0002011	Morphological central nervous system abnormality	5009	OTC	OMIM:311250
HP:0002011	Morphological central nervous system abnormality	2997	GYS1	OMIM:611556
HP:0002011	Morphological central nervous system abnormality	7174	TPP2	ORPHA:444463
HP:0002011	Morphological central nervous system abnormality	2908	NR3C1	ORPHA:786
HP:0002011	Morphological central nervous system abnormality	2908	NR3C1	ORPHA:96253
HP:0002011	Morphological central nervous system abnormality	10560	SLC19A2	ORPHA:49827
HP:0002011	Morphological central nervous system abnormality	10560	SLC19A2	OMIM:249270
HP:0002011	Morphological central nervous system abnormality	11093	ADAMTS13	OMIM:274150
HP:0002011	Morphological central nervous system abnormality	84196	USP48	ORPHA:96253
HP:0002011	Morphological central nervous system abnormality	9149	DYRK1B	OMIM:615812
HP:0002011	Morphological central nervous system abnormality	54790	TET2	ORPHA:729
HP:0002011	Morphological central nervous system abnormality	5346	PLIN1	OMIM:613877
HP:0002011	Morphological central nervous system abnormality	3291	HSD11B2	ORPHA:320
HP:0002011	Morphological central nervous system abnormality	2318	FLNC	OMIM:617047
HP:0002011	Morphological central nervous system abnormality	2318	FLNC	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	10370	CITED2	ORPHA:99105
HP:0002011	Morphological central nervous system abnormality	10370	CITED2	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	7092	TLL1	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	57057	TBX20	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	4624	MYH6	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	1482	NKX2-5	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	70	ACTC1	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	4607	MYBPC3	OMIM:115197
HP:0002011	Morphological central nervous system abnormality	5167	ENPP1	ORPHA:51608
HP:0002011	Morphological central nervous system abnormality	84665	MYPN	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	7139	TNNT2	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	7137	TNNI3	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	10112	KIF20A	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	189	AGXT	ORPHA:93598
HP:0002011	Morphological central nervous system abnormality	10269	ZMPSTE24	ORPHA:740
HP:0002011	Morphological central nervous system abnormality	64132	XYLT2	OMIM:264800
HP:0002011	Morphological central nervous system abnormality	80206	FHOD3	OMIM:619402
HP:0002011	Morphological central nervous system abnormality	2982	GUCY1A1	ORPHA:401945
HP:0002011	Morphological central nervous system abnormality	50485	SMARCAL1	ORPHA:1830
HP:0002011	Morphological central nervous system abnormality	50485	SMARCAL1	OMIM:242900
HP:0002011	Morphological central nervous system abnormality	182	JAG1	OMIM:118450
HP:0002011	Morphological central nervous system abnormality	28976	ACAD9	OMIM:611126
HP:0002011	Morphological central nervous system abnormality	2147	F2	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	4846	NOS3	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	5583	PRKCH	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	2153	F5	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	241	ALOX5AP	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	445	ASS1	OMIM:215700
HP:0002011	Morphological central nervous system abnormality	875	CBS	OMIM:236200
HP:0002011	Morphological central nervous system abnormality	4615	MYD88	ORPHA:33226
HP:0002011	Morphological central nervous system abnormality	4878	NPPA	OMIM:615745
HP:0002011	Morphological central nervous system abnormality	1373	CPS1	OMIM:237300
HP:0002011	Morphological central nervous system abnormality	7535	ZAP70	ORPHA:911
HP:0002011	Morphological central nervous system abnormality	2879	GPX4	ORPHA:93317
HP:0002011	Morphological central nervous system abnormality	23417	MLYCD	OMIM:248360
HP:0002011	Morphological central nervous system abnormality	10716	TBR1	OMIM:606053
HP:0002011	Morphological central nervous system abnormality	9508	ADAMTS3	ORPHA:2136
HP:0002011	Morphological central nervous system abnormality	147372	CCBE1	ORPHA:2136
HP:0002011	Morphological central nervous system abnormality	147372	CCBE1	OMIM:235510
HP:0002011	Morphological central nervous system abnormality	10319	LAMC3	OMIM:614115
HP:0002011	Morphological central nervous system abnormality	84978	FRMD5	OMIM:620094
HP:0002011	Morphological central nervous system abnormality	2108	ETFA	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	2109	ETFB	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	2110	ETFDH	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	55112	DYNC2I1	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	57560	IFT80	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	57539	WDR35	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	79659	DYNC2H1	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	89891	DYNC2I2	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	27031	NPHP3	OMIM:267010
HP:0002011	Morphological central nervous system abnormality	27031	NPHP3	OMIM:208540
HP:0002011	Morphological central nervous system abnormality	27031	NPHP3	ORPHA:3032
HP:0002011	Morphological central nervous system abnormality	10804	GJB6	ORPHA:477
HP:0002011	Morphological central nervous system abnormality	2706	GJB2	ORPHA:477
HP:0002011	Morphological central nervous system abnormality	4927	NUP88	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	4654	MYOD1	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	5913	RAPSN	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	6572	SLC18A3	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	285489	DOK7	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	2121	EVC	OMIM:225500
HP:0002011	Morphological central nervous system abnormality	132884	EVC2	OMIM:225500
HP:0002011	Morphological central nervous system abnormality	3784	KCNQ1	OMIM:130650
HP:0002011	Morphological central nervous system abnormality	10613	ERLIN1	ORPHA:401785
HP:0002011	Morphological central nervous system abnormality	10613	ERLIN1	OMIM:615681
HP:0002011	Morphological central nervous system abnormality	6609	SMPD1	ORPHA:77293
HP:0002011	Morphological central nervous system abnormality	10483	SEC23B	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	205717	USF3	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	100144748	KLLN	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	2583	B4GALNT1	ORPHA:101006
HP:0002011	Morphological central nervous system abnormality	22884	WDR37	OMIM:618652
HP:0002011	Morphological central nervous system abnormality	81790	RNF170	OMIM:608984
HP:0002011	Morphological central nervous system abnormality	113278	SLC52A3	OMIM:211530
HP:0002011	Morphological central nervous system abnormality	23241	PACS2	OMIM:618067
HP:0002011	Morphological central nervous system abnormality	10501	SEMA6B	OMIM:618876
HP:0002011	Morphological central nervous system abnormality	22897	CEP164	OMIM:614845
HP:0002011	Morphological central nervous system abnormality	54974	THG1L	OMIM:618800
HP:0002011	Morphological central nervous system abnormality	492	ATP2B3	ORPHA:314978
HP:0002011	Morphological central nervous system abnormality	2296	FOXC1	OMIM:602482
HP:0002011	Morphological central nervous system abnormality	2296	FOXC1	OMIM:601631
HP:0002011	Morphological central nervous system abnormality	4352	MPL	OMIM:604498
HP:0002011	Morphological central nervous system abnormality	55280	CWF19L1	OMIM:616127
HP:0002011	Morphological central nervous system abnormality	55280	CWF19L1	ORPHA:453521
HP:0002011	Morphological central nervous system abnormality	57020	VPS35L	OMIM:619135
HP:0002011	Morphological central nervous system abnormality	79023	NUP37	OMIM:618179
HP:0002011	Morphological central nervous system abnormality	9181	ARHGEF2	OMIM:617523
HP:0002011	Morphological central nervous system abnormality	11253	MAN1B1	ORPHA:397941
HP:0002011	Morphological central nervous system abnormality	11253	MAN1B1	OMIM:614202
HP:0002011	Morphological central nervous system abnormality	83700	JAM3	OMIM:613730
HP:0002011	Morphological central nervous system abnormality	85300	ATCAY	ORPHA:94122
HP:0002011	Morphological central nervous system abnormality	85300	ATCAY	OMIM:601238
HP:0002011	Morphological central nervous system abnormality	6507	SLC1A3	OMIM:612656
HP:0002011	Morphological central nervous system abnormality	535	ATP6V0A1	OMIM:619971
HP:0002011	Morphological central nervous system abnormality	10939	AFG3L2	ORPHA:313772
HP:0002011	Morphological central nervous system abnormality	57231	SNX14	OMIM:616354
HP:0002011	Morphological central nervous system abnormality	55165	CEP55	OMIM:236500
HP:0002011	Morphological central nervous system abnormality	8733	GPAA1	ORPHA:529665
HP:0002011	Morphological central nervous system abnormality	8733	GPAA1	OMIM:617810
HP:0002011	Morphological central nervous system abnormality	9474	ATG5	OMIM:617584
HP:0002011	Morphological central nervous system abnormality	125988	MICOS13	OMIM:618329
HP:0002011	Morphological central nervous system abnormality	29929	ALG6	ORPHA:79320
HP:0002011	Morphological central nervous system abnormality	51117	COQ4	OMIM:616276
HP:0002011	Morphological central nervous system abnormality	10243	GPHN	OMIM:615501
HP:0002011	Morphological central nervous system abnormality	10273	STUB1	OMIM:615768
HP:0002011	Morphological central nervous system abnormality	10273	STUB1	ORPHA:412057
HP:0002011	Morphological central nervous system abnormality	27185	DISC1	ORPHA:171703
HP:0002011	Morphological central nervous system abnormality	8320	EOMES	ORPHA:171703
HP:0002011	Morphological central nervous system abnormality	7012	TERC	OMIM:127550
HP:0002011	Morphological central nervous system abnormality	64221	ROBO3	OMIM:607313
HP:0002011	Morphological central nervous system abnormality	26007	TKFC	OMIM:618805
HP:0002011	Morphological central nervous system abnormality	6712	SPTBN2	OMIM:600224
HP:0002011	Morphological central nervous system abnormality	3188	HNRNPH2	OMIM:300986
HP:0002011	Morphological central nervous system abnormality	55164	SHQ1	OMIM:619922
HP:0002011	Morphological central nervous system abnormality	7291	TWIST1	OMIM:617746
HP:0002011	Morphological central nervous system abnormality	55074	OXR1	OMIM:213000
HP:0002011	Morphological central nervous system abnormality	23404	EXOSC2	OMIM:617763
HP:0002011	Morphological central nervous system abnormality	4593	MUSK	OMIM:208150
HP:0002011	Morphological central nervous system abnormality	3052	HCCS	OMIM:309801
HP:0002011	Morphological central nervous system abnormality	3052	HCCS	ORPHA:2556
HP:0002011	Morphological central nervous system abnormality	2146	EZH2	OMIM:277590
HP:0002011	Morphological central nervous system abnormality	55790	CSGALNACT1	OMIM:618870
HP:0002011	Morphological central nervous system abnormality	63895	PIEZO2	ORPHA:2461
HP:0002011	Morphological central nervous system abnormality	55503	TRPV6	OMIM:618188
HP:0002011	Morphological central nervous system abnormality	131405	TRIM71	OMIM:618667
HP:0002011	Morphological central nervous system abnormality	3070	HELLS	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	1789	DNMT3B	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	9841	ZBTB24	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	2615	LRRC32	OMIM:619074
HP:0002011	Morphological central nervous system abnormality	6938	TCF12	OMIM:615314
HP:0002011	Morphological central nervous system abnormality	4036	LRP2	OMIM:222448
HP:0002011	Morphological central nervous system abnormality	412	STS	ORPHA:281090
HP:0002011	Morphological central nervous system abnormality	1908	EDN3	ORPHA:897
HP:0002011	Morphological central nervous system abnormality	4286	MITF	ORPHA:897
HP:0002011	Morphological central nervous system abnormality	1471	CST3	OMIM:105150
HP:0002011	Morphological central nervous system abnormality	1471	CST3	ORPHA:100008
HP:0002011	Morphological central nervous system abnormality	94	ACVRL1	OMIM:600376
HP:0002011	Morphological central nervous system abnormality	94	ACVRL1	ORPHA:774
HP:0002011	Morphological central nervous system abnormality	3717	JAK2	OMIM:133100
HP:0002011	Morphological central nervous system abnormality	3717	JAK2	OMIM:263300
HP:0002011	Morphological central nervous system abnormality	10019	SH2B3	OMIM:133100
HP:0002011	Morphological central nervous system abnormality	2057	EPOR	OMIM:133100
HP:0002011	Morphological central nervous system abnormality	2677	GGCX	OMIM:277450
HP:0002011	Morphological central nervous system abnormality	8517	IKBKG	OMIM:301081
HP:0002011	Morphological central nervous system abnormality	2335	FN1	ORPHA:84090
HP:0002011	Morphological central nervous system abnormality	368	ABCC6	OMIM:177850
HP:0002011	Morphological central nervous system abnormality	351	APP	ORPHA:324713
HP:0002011	Morphological central nervous system abnormality	351	APP	ORPHA:324703
HP:0002011	Morphological central nervous system abnormality	351	APP	ORPHA:324708
HP:0002011	Morphological central nervous system abnormality	351	APP	ORPHA:100006
HP:0002011	Morphological central nervous system abnormality	3075	CFH	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	3426	CFI	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	4179	CD46	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	101101692	HELLPAR	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	5627	PROS1	OMIM:614514
HP:0002011	Morphological central nervous system abnormality	2165	F13B	ORPHA:331
HP:0002011	Morphological central nervous system abnormality	2162	F13A1	ORPHA:331
HP:0002011	Morphological central nervous system abnormality	2658	GDF2	ORPHA:774
HP:0002011	Morphological central nervous system abnormality	51816	ADA2	OMIM:182410
HP:0002011	Morphological central nervous system abnormality	442721	LMOD2	OMIM:619897
HP:0002011	Morphological central nervous system abnormality	6773	STAT2	OMIM:618886
HP:0002011	Morphological central nervous system abnormality	2034	EPAS1	ORPHA:276621
HP:0002011	Morphological central nervous system abnormality	9103	FCGR2C	ORPHA:3002
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	OMIM:218800
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	OMIM:237900
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	ORPHA:79234
HP:0002011	Morphological central nervous system abnormality	6007	RHD	OMIM:619462
HP:0002011	Morphological central nervous system abnormality	5296	PIK3R2	OMIM:603387
HP:0002011	Morphological central nervous system abnormality	5296	PIK3R2	ORPHA:83473
HP:0002011	Morphological central nervous system abnormality	6611	SMS	ORPHA:3063
HP:0002011	Morphological central nervous system abnormality	8925	HERC1	ORPHA:457359
HP:0002011	Morphological central nervous system abnormality	8925	HERC1	OMIM:617011
HP:0002011	Morphological central nervous system abnormality	51256	TBC1D7	OMIM:248000
HP:0002011	Morphological central nervous system abnormality	894	CCND2	ORPHA:83473
HP:0002011	Morphological central nervous system abnormality	894	CCND2	OMIM:615938
HP:0002011	Morphological central nervous system abnormality	10000	AKT3	ORPHA:83473
HP:0002011	Morphological central nervous system abnormality	92335	STRADA	ORPHA:500533
HP:0002011	Morphological central nervous system abnormality	92335	STRADA	OMIM:611087
HP:0002011	Morphological central nervous system abnormality	116442	RAB39B	OMIM:311510
HP:0002011	Morphological central nervous system abnormality	220296	HEPACAM	OMIM:604004
HP:0002011	Morphological central nervous system abnormality	220296	HEPACAM	OMIM:613925
HP:0002011	Morphological central nervous system abnormality	220296	HEPACAM	OMIM:613926
HP:0002011	Morphological central nervous system abnormality	23209	MLC1	OMIM:604004
HP:0002011	Morphological central nervous system abnormality	8738	CRADD	OMIM:614499
HP:0002011	Morphological central nervous system abnormality	2475	MTOR	ORPHA:457485
HP:0002011	Morphological central nervous system abnormality	2475	MTOR	OMIM:616638
HP:0002011	Morphological central nervous system abnormality	443	ASPA	ORPHA:314911
HP:0002011	Morphological central nervous system abnormality	5396	PRRX1	ORPHA:990
HP:0002011	Morphological central nervous system abnormality	5396	PRRX1	OMIM:202650
HP:0002011	Morphological central nervous system abnormality	5015	OTX2	ORPHA:990
HP:0002011	Morphological central nervous system abnormality	5015	OTX2	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	27238	GPKOW	ORPHA:2570
HP:0002011	Morphological central nervous system abnormality	4659	PPP1R12A	OMIM:618820
HP:0002011	Morphological central nervous system abnormality	5626	PROP1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	89884	LHX4	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	3170	FOXA2	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	5449	POU1F1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	8820	HESX1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	6299	SALL1	OMIM:107480
HP:0002011	Morphological central nervous system abnormality	3199	HOXA2	ORPHA:83463
HP:0002011	Morphological central nervous system abnormality	22858	CILK1	OMIM:612651
HP:0002011	Morphological central nervous system abnormality	55636	CHD7	ORPHA:138
HP:0002011	Morphological central nervous system abnormality	55636	CHD7	OMIM:214800
HP:0002011	Morphological central nervous system abnormality	9723	SEMA3E	ORPHA:138
HP:0002011	Morphological central nervous system abnormality	5925	RB1	ORPHA:1587
HP:0002011	Morphological central nervous system abnormality	9184	BUB3	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	699	BUB1	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	9702	CEP57	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	9319	TRIP13	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	3897	L1CAM	ORPHA:2182
HP:0002011	Morphological central nervous system abnormality	124997	WDR81	OMIM:617967
HP:0002011	Morphological central nervous system abnormality	4524	MTHFR	ORPHA:395
HP:0002011	Morphological central nervous system abnormality	2072	ERCC4	OMIM:278760
HP:0002011	Morphological central nervous system abnormality	23314	SATB2	ORPHA:251028
HP:0002011	Morphological central nervous system abnormality	4052	LTBP1	ORPHA:90349
HP:0002011	Morphological central nervous system abnormality	30008	EFEMP2	ORPHA:90349
HP:0002011	Morphological central nervous system abnormality	10516	FBLN5	ORPHA:90349
HP:0002011	Morphological central nervous system abnormality	201163	FLCN	OMIM:610883
HP:0002011	Morphological central nervous system abnormality	79087	ALG12	ORPHA:79324
HP:0002011	Morphological central nervous system abnormality	25981	DNAH1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	115948	ODAD3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54768	HYDIN	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	352909	DNAAF3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	27148	STK36	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	51314	NME8	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	92749	DRC1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54970	TTC12	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	152110	NEK10	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	2302	FOXJ1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	221421	RSPH9	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	85478	CCDC65	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55036	CCDC40	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	51364	ZMYND10	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	64446	DNAI2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	6674	SPAG1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83544	DNAL1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	89765	RSPH1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83538	ODAD4	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	200373	CFAP221	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	374407	DNAJB13	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55172	DNAAF2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	161582	DNAAF4	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	2622	GAS8	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	23639	DNAAF11	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	27019	DNAI1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	345895	RSPH4A	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54919	DNAAF5	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	6103	RPGR	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	388389	CCDC103	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	93233	ODAD1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55130	ODAD2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	1767	DNAH5	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83861	RSPH3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	345643	MCIDAS	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	56683	CFAP298	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	79925	SPEF2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	10309	CCNO	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	115399	LRRC56	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	139212	DNAAF6	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	123872	DNAAF1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	85016	CFAP300	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	339829	CCDC39	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	8701	DNAH11	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	1770	DNAH9	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	246176	GAS2L2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	652	BMP4	OMIM:607932
HP:0002011	Morphological central nervous system abnormality	53834	FGFRL1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	1487	CTBP1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	3954	LETM1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	7468	NSD2	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	10815	CPLX1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	5274	SERPINI1	OMIM:604218
HP:0002011	Morphological central nervous system abnormality	10749	KIF1C	ORPHA:397946
HP:0002011	Morphological central nervous system abnormality	10749	KIF1C	OMIM:611302
HP:0002011	Morphological central nervous system abnormality	6515	SLC2A3	ORPHA:399
HP:0002011	Morphological central nervous system abnormality	27183	VPS4A	OMIM:619273
HP:0002011	Morphological central nervous system abnormality	1497	CTNS	OMIM:219800
HP:0002011	Morphological central nervous system abnormality	199857	ALG14	OMIM:619036
HP:0002011	Morphological central nervous system abnormality	51102	MECR	ORPHA:508093
HP:0002011	Morphological central nervous system abnormality	5723	PSPH	OMIM:614023
HP:0002011	Morphological central nervous system abnormality	5393	EXOSC9	OMIM:618065
HP:0002011	Morphological central nervous system abnormality	51569	UFM1	OMIM:617899
HP:0002011	Morphological central nervous system abnormality	60684	TRAPPC11	OMIM:615356
HP:0002011	Morphological central nervous system abnormality	60684	TRAPPC11	ORPHA:369847
HP:0002011	Morphological central nervous system abnormality	10466	COG5	OMIM:613612
HP:0002011	Morphological central nervous system abnormality	1786	DNMT1	ORPHA:314404
HP:0002011	Morphological central nervous system abnormality	1786	DNMT1	OMIM:614116
HP:0002011	Morphological central nervous system abnormality	4552	MTRR	OMIM:236270
HP:0002011	Morphological central nervous system abnormality	3074	HEXB	ORPHA:309162
HP:0002011	Morphological central nervous system abnormality	162	AP1B1	OMIM:242150
HP:0002011	Morphological central nervous system abnormality	9442	MED27	OMIM:619286
HP:0002011	Morphological central nervous system abnormality	101060691	NUTM2B-AS1	OMIM:618637
HP:0002011	Morphological central nervous system abnormality	1841	DTYMK	OMIM:619847
HP:0002011	Morphological central nervous system abnormality	16	AARS1	OMIM:616339
HP:0002011	Morphological central nervous system abnormality	16	AARS1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	54476	RNF216	OMIM:212840
HP:0002011	Morphological central nervous system abnormality	26580	BSCL2	OMIM:615924
HP:0002011	Morphological central nervous system abnormality	26580	BSCL2	ORPHA:363400
HP:0002011	Morphological central nervous system abnormality	9382	COG1	OMIM:611209
HP:0002011	Morphological central nervous system abnormality	79693	YRDC	OMIM:619609
HP:0002011	Morphological central nervous system abnormality	23250	ATP11A	OMIM:619851
HP:0002011	Morphological central nervous system abnormality	7345	UCHL1	OMIM:615491
HP:0002011	Morphological central nervous system abnormality	5105	PCK1	OMIM:261680
HP:0002011	Morphological central nervous system abnormality	64207	IRF2BPL	OMIM:618088
HP:0002011	Morphological central nervous system abnormality	55037	PTCD3	OMIM:619057
HP:0002011	Morphological central nervous system abnormality	91869	RFT1	ORPHA:244310
HP:0002011	Morphological central nervous system abnormality	91869	RFT1	OMIM:612015
HP:0002011	Morphological central nervous system abnormality	7084	TK2	OMIM:609560
HP:0002011	Morphological central nervous system abnormality	7084	TK2	ORPHA:254886
HP:0002011	Morphological central nervous system abnormality	8772	FADD	OMIM:613759
HP:0002011	Morphological central nervous system abnormality	8772	FADD	ORPHA:306550
HP:0002011	Morphological central nervous system abnormality	1716	DGUOK	OMIM:251880
HP:0002011	Morphological central nervous system abnormality	5095	PCCA	OMIM:606054
HP:0002011	Morphological central nervous system abnormality	5096	PCCB	OMIM:606054
HP:0002011	Morphological central nervous system abnormality	7466	WFS1	OMIM:222300
HP:0002011	Morphological central nervous system abnormality	5833	PCYT2	OMIM:618770
HP:0002011	Morphological central nervous system abnormality	4598	MVK	OMIM:610377
HP:0002011	Morphological central nervous system abnormality	3737	KCNA2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	10991	SLC38A3	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	51343	FZR1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	22906	TRAK1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1917	EEF1A2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1917	EEF1A2	OMIM:616393
HP:0002011	Morphological central nervous system abnormality	2561	GABRB2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	8831	SYNGAP1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	7532	YWHAG	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2906	GRIN2D	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2906	GRIN2D	OMIM:617162
HP:0002011	Morphological central nervous system abnormality	116150	NUS1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	10659	CELF2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	774	CACNA1B	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	774	CACNA1B	OMIM:618497
HP:0002011	Morphological central nervous system abnormality	1213	CLTC	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23334	SZT2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	348980	HCN1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	8867	SYNJ1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2258	FGF13	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2258	FGF13	OMIM:301058
HP:0002011	Morphological central nervous system abnormality	3745	KCNB1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	284111	SLC13A5	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	25977	NECAP1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	6334	SCN8A	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	6334	SCN8A	OMIM:614558
HP:0002011	Morphological central nervous system abnormality	22866	CNKSR2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	9568	GABBR2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2555	GABRA2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	55152	DALRD3	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	26999	CYFIP2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	26999	CYFIP2	OMIM:618008
HP:0002011	Morphological central nervous system abnormality	4915	NTRK2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23097	CDK19	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23097	CDK19	OMIM:618916
HP:0002011	Morphological central nervous system abnormality	64801	ARV1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	79947	DHDDS	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2257	FGF12	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	5826	ABCD4	OMIM:614857
HP:0002011	Morphological central nervous system abnormality	54902	TTC19	OMIM:615157
HP:0002011	Morphological central nervous system abnormality	51692	CPSF3	OMIM:619876
HP:0002011	Morphological central nervous system abnormality	10056	FARSB	OMIM:613658
HP:0002011	Morphological central nervous system abnormality	56052	ALG1	ORPHA:79327
HP:0002011	Morphological central nervous system abnormality	56052	ALG1	OMIM:608540
HP:0002011	Morphological central nervous system abnormality	5521	PPP2R2B	ORPHA:98762
HP:0002011	Morphological central nervous system abnormality	54828	BCAS3	OMIM:619641
HP:0002011	Morphological central nervous system abnormality	10531	PITRM1	OMIM:619405
HP:0002011	Morphological central nervous system abnormality	256471	MFSD8	OMIM:610951
HP:0002011	Morphological central nervous system abnormality	55343	SLC35C1	ORPHA:99843
HP:0002011	Morphological central nervous system abnormality	55739	NAXD	OMIM:618321
HP:0002011	Morphological central nervous system abnormality	339855	KY	ORPHA:496689
HP:0002011	Morphological central nervous system abnormality	29960	MRM2	OMIM:618567
HP:0002011	Morphological central nervous system abnormality	23219	FBXO28	OMIM:619777
HP:0002011	Morphological central nervous system abnormality	23189	KANK1	OMIM:612900
HP:0002011	Morphological central nervous system abnormality	6314	ATXN7	ORPHA:94147
HP:0002011	Morphological central nervous system abnormality	28962	OSTM1	OMIM:259720
HP:0002011	Morphological central nervous system abnormality	28962	OSTM1	ORPHA:85179
HP:0002011	Morphological central nervous system abnormality	26100	WIPI2	OMIM:618453
HP:0002011	Morphological central nervous system abnormality	10533	ATG7	OMIM:619422
HP:0002011	Morphological central nervous system abnormality	51693	TRAPPC2L	OMIM:618331
HP:0002011	Morphological central nervous system abnormality	57017	COQ9	OMIM:614654
HP:0002011	Morphological central nervous system abnormality	22907	DHX30	OMIM:617804
HP:0002011	Morphological central nervous system abnormality	8260	NAA10	ORPHA:276432
HP:0002011	Morphological central nervous system abnormality	8260	NAA10	OMIM:300855
HP:0002011	Morphological central nervous system abnormality	9759	HDAC4	OMIM:619797
HP:0002011	Morphological central nervous system abnormality	23516	SLC39A14	OMIM:617013
HP:0002011	Morphological central nervous system abnormality	23516	SLC39A14	ORPHA:521406
HP:0002011	Morphological central nervous system abnormality	7167	TPI1	OMIM:615512
HP:0002011	Morphological central nervous system abnormality	132	ADK	OMIM:614300
HP:0002011	Morphological central nervous system abnormality	53616	ADAM22	OMIM:617933
HP:0002011	Morphological central nervous system abnormality	9526	MPDU1	OMIM:609180
HP:0002011	Morphological central nervous system abnormality	546	ATRX	OMIM:301040
HP:0002011	Morphological central nervous system abnormality	9150	CTDP1	OMIM:604168
HP:0002011	Morphological central nervous system abnormality	57520	HECW2	OMIM:617268
HP:0002011	Morphological central nervous system abnormality	1806	DPYD	OMIM:274270
HP:0002011	Morphological central nervous system abnormality	1806	DPYD	ORPHA:1675
HP:0002011	Morphological central nervous system abnormality	112939	NACC1	ORPHA:500545
HP:0002011	Morphological central nervous system abnormality	112939	NACC1	OMIM:617393
HP:0002011	Morphological central nervous system abnormality	51010	EXOSC3	OMIM:614678
HP:0002011	Morphological central nervous system abnormality	54822	TRPM7	OMIM:105500
HP:0002011	Morphological central nervous system abnormality	1760	DMPK	OMIM:160900
HP:0002011	Morphological central nervous system abnormality	2891	GRIA2	OMIM:618917
HP:0002011	Morphological central nervous system abnormality	5934	RBL2	OMIM:619690
HP:0002011	Morphological central nervous system abnormality	79709	COLGALT1	OMIM:618360
HP:0002011	Morphological central nervous system abnormality	55906	ZC4H2	OMIM:314580
HP:0002011	Morphological central nervous system abnormality	23732	FRRS1L	OMIM:616981
HP:0002011	Morphological central nervous system abnormality	79641	ROGDI	OMIM:226750
HP:0002011	Morphological central nervous system abnormality	6601	SMARCC2	OMIM:618362
HP:0002011	Morphological central nervous system abnormality	29940	DSE	OMIM:615539
HP:0002011	Morphological central nervous system abnormality	549	AUH	OMIM:250950
HP:0002011	Morphological central nervous system abnormality	56652	TWNK	OMIM:609286
HP:0002011	Morphological central nervous system abnormality	6821	SUOX	OMIM:272300
HP:0002011	Morphological central nervous system abnormality	5422	POLA1	OMIM:301030
HP:0002011	Morphological central nervous system abnormality	127833	SYT2	OMIM:619461
HP:0002011	Morphological central nervous system abnormality	84896	ATAD1	OMIM:618011
HP:0002011	Morphological central nervous system abnormality	175	AGA	OMIM:208400
HP:0002011	Morphological central nervous system abnormality	4548	MTR	OMIM:250940
HP:0002011	Morphological central nervous system abnormality	2313	FLI1	ORPHA:2308
HP:0002011	Morphological central nervous system abnormality	8943	AP3D1	OMIM:617050
HP:0002011	Morphological central nervous system abnormality	3975	LHX1	ORPHA:261265
HP:0002011	Morphological central nervous system abnormality	6928	HNF1B	ORPHA:261265
HP:0002011	Morphological central nervous system abnormality	57003	CCDC47	OMIM:618268
HP:0002011	Morphological central nervous system abnormality	51095	TRNT1	OMIM:616084
HP:0002011	Morphological central nervous system abnormality	11019	LIAS	OMIM:614462
HP:0002011	Morphological central nervous system abnormality	145173	B3GLCT	OMIM:261540
HP:0002011	Morphological central nervous system abnormality	57468	SLC12A5	OMIM:616645
HP:0002011	Morphological central nervous system abnormality	2517	FUCA1	OMIM:230000
HP:0002011	Morphological central nervous system abnormality	23040	MYT1L	OMIM:616521
HP:0002011	Morphological central nervous system abnormality	3704	ITPA	OMIM:616647
HP:0002011	Morphological central nervous system abnormality	203228	C9orf72	OMIM:105550
HP:0002011	Morphological central nervous system abnormality	2760	GM2A	ORPHA:309246
HP:0002011	Morphological central nervous system abnormality	2760	GM2A	OMIM:272750
HP:0002011	Morphological central nervous system abnormality	51715	RAB23	OMIM:201000
HP:0002011	Morphological central nervous system abnormality	91875	TTC5	OMIM:619244
HP:0002011	Morphological central nervous system abnormality	617	BCS1L	OMIM:124000
HP:0002011	Morphological central nervous system abnormality	10084	PQBP1	OMIM:309500
HP:0002011	Morphological central nervous system abnormality	54802	TRIT1	OMIM:617873
HP:0002011	Morphological central nervous system abnormality	26503	SLC17A5	OMIM:269920
HP:0002011	Morphological central nervous system abnormality	10274	STAG1	OMIM:617635
HP:0002011	Morphological central nervous system abnormality	2733	GLE1	OMIM:611890
HP:0002011	Morphological central nervous system abnormality	1719	DHFR	OMIM:613839
HP:0002011	Morphological central nervous system abnormality	3778	KCNMA1	OMIM:618729
HP:0002011	Morphological central nervous system abnormality	22868	FASTKD2	OMIM:618855
HP:0002011	Morphological central nervous system abnormality	114034	TOE1	ORPHA:284339
HP:0002011	Morphological central nervous system abnormality	9562	MINPP1	ORPHA:284339
HP:0002011	Morphological central nervous system abnormality	57338	JPH3	ORPHA:98934
HP:0002011	Morphological central nervous system abnormality	10195	ALG3	ORPHA:79321
HP:0002011	Morphological central nervous system abnormality	2138	EYA1	OMIM:113650
HP:0002011	Morphological central nervous system abnormality	6495	SIX1	OMIM:113650
HP:0002011	Morphological central nervous system abnormality	9217	VAPB	OMIM:608627
HP:0002011	Morphological central nervous system abnormality	3748	KCNC3	OMIM:605259
HP:0002011	Morphological central nervous system abnormality	25814	ATXN10	OMIM:603516
HP:0002011	Morphological central nervous system abnormality	80169	CTC1	OMIM:612199
HP:0002011	Morphological central nervous system abnormality	8575	PRKRA	OMIM:612067
HP:0002011	Morphological central nervous system abnormality	6531	SLC6A3	OMIM:613135
HP:0002011	Morphological central nervous system abnormality	1807	DPYS	OMIM:222748
HP:0002011	Morphological central nervous system abnormality	79944	L2HGDH	OMIM:236792
HP:0002011	Morphological central nervous system abnormality	8139	GAN	OMIM:256850
HP:0002011	Morphological central nervous system abnormality	5538	PPT1	OMIM:256730
HP:0002011	Morphological central nervous system abnormality	1203	CLN5	OMIM:256731
HP:0002011	Morphological central nervous system abnormality	1201	CLN3	OMIM:204200
HP:0002011	Morphological central nervous system abnormality	2055	CLN8	OMIM:600143
HP:0002011	Morphological central nervous system abnormality	2055	CLN8	OMIM:610003
HP:0002011	Morphological central nervous system abnormality	54982	CLN6	OMIM:204300
HP:0002011	Morphological central nervous system abnormality	54982	CLN6	OMIM:601780
HP:0002011	Morphological central nervous system abnormality	1200	TPP1	OMIM:204500
HP:0002011	Morphological central nervous system abnormality	80331	DNAJC5	OMIM:162350
HP:0002011	Morphological central nervous system abnormality	1509	CTSD	OMIM:610127
HP:0002011	Morphological central nervous system abnormality	2137	EXTL3	ORPHA:508533
HP:0002011	Morphological central nervous system abnormality	7528	YY1	ORPHA:506358
HP:0002011	Morphological central nervous system abnormality	8036	SHOC2	OMIM:607721
HP:0002011	Morphological central nervous system abnormality	23394	ADNP	ORPHA:404448
HP:0002011	Morphological central nervous system abnormality	10617	STAMBP	OMIM:614261
HP:0002011	Morphological central nervous system abnormality	26235	FBXL4	OMIM:615471
HP:0002011	Morphological central nervous system abnormality	104	ADARB1	OMIM:618862
HP:0002011	Morphological central nervous system abnormality	9853	RUSC2	OMIM:617773
HP:0002011	Morphological central nervous system abnormality	2775	GNAO1	OMIM:615473
HP:0002011	Morphological central nervous system abnormality	2775	GNAO1	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	2775	GNAO1	OMIM:617493
HP:0002011	Morphological central nervous system abnormality	6873	TAF2	OMIM:615599
HP:0002011	Morphological central nervous system abnormality	6873	TAF2	ORPHA:397951
HP:0002011	Morphological central nervous system abnormality	1947	EFNB1	ORPHA:1520
HP:0002011	Morphological central nervous system abnormality	1947	EFNB1	OMIM:304110
HP:0002011	Morphological central nervous system abnormality	7360	UGP2	OMIM:618744
HP:0002011	Morphological central nervous system abnormality	81857	MED25	OMIM:616449
HP:0002011	Morphological central nervous system abnormality	81857	MED25	ORPHA:464738
HP:0002011	Morphological central nervous system abnormality	10159	ATP6AP2	ORPHA:93952
HP:0002011	Morphological central nervous system abnormality	10159	ATP6AP2	OMIM:300423
HP:0002011	Morphological central nervous system abnormality	116931	MED12L	OMIM:618872
HP:0002011	Morphological central nervous system abnormality	80816	ASXL3	OMIM:615485
HP:0002011	Morphological central nervous system abnormality	6536	SLC6A9	OMIM:617301
HP:0002011	Morphological central nervous system abnormality	51741	WWOX	OMIM:616211
HP:0002011	Morphological central nervous system abnormality	27245	AHDC1	ORPHA:412069
HP:0002011	Morphological central nervous system abnormality	27245	AHDC1	OMIM:615829
HP:0002011	Morphological central nervous system abnormality	166378	AFG2A	OMIM:616577
HP:0002011	Morphological central nervous system abnormality	375387	NRROS	OMIM:618875
HP:0002011	Morphological central nervous system abnormality	5610	EIF2AK2	OMIM:618877
HP:0002011	Morphological central nervous system abnormality	83696	TRAPPC9	OMIM:613192
HP:0002011	Morphological central nervous system abnormality	83696	TRAPPC9	ORPHA:352530
HP:0002011	Morphological central nervous system abnormality	7343	UBTF	OMIM:617672
HP:0002011	Morphological central nervous system abnormality	7343	UBTF	ORPHA:500180
HP:0002011	Morphological central nervous system abnormality	6844	VAMP2	OMIM:618760
HP:0002011	Morphological central nervous system abnormality	11232	POLG2	OMIM:618528
HP:0002011	Morphological central nervous system abnormality	1183	CLCN4	ORPHA:485350
HP:0002011	Morphological central nervous system abnormality	1183	CLCN4	OMIM:300114
HP:0002011	Morphological central nervous system abnormality	6872	TAF1	ORPHA:480907
HP:0002011	Morphological central nervous system abnormality	6872	TAF1	OMIM:300966
HP:0002011	Morphological central nervous system abnormality	171023	ASXL1	ORPHA:97297
HP:0002011	Morphological central nervous system abnormality	171023	ASXL1	OMIM:605039
HP:0002011	Morphological central nervous system abnormality	1656	DDX6	OMIM:618653
HP:0002011	Morphological central nervous system abnormality	25930	PTPN23	OMIM:618890
HP:0002011	Morphological central nervous system abnormality	23327	NEDD4L	OMIM:617201
HP:0002011	Morphological central nervous system abnormality	833	CARS1	OMIM:618891
HP:0002011	Morphological central nervous system abnormality	2903	GRIN2A	ORPHA:289266
HP:0002011	Morphological central nervous system abnormality	2903	GRIN2A	ORPHA:163721
HP:0002011	Morphological central nervous system abnormality	54872	PIGG	ORPHA:488635
HP:0002011	Morphological central nervous system abnormality	54872	PIGG	OMIM:616917
HP:0002011	Morphological central nervous system abnormality	57178	ZMIZ1	OMIM:618659
HP:0002011	Morphological central nervous system abnormality	8550	MAPKAPK5	OMIM:619869
HP:0002011	Morphological central nervous system abnormality	93627	TBCK	ORPHA:488632
HP:0002011	Morphological central nervous system abnormality	93627	TBCK	OMIM:616900
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	OMIM:617207
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	OMIM:241410
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	ORPHA:496756
HP:0002011	Morphological central nervous system abnormality	8642	DCHS1	OMIM:601390
HP:0002011	Morphological central nervous system abnormality	8642	DCHS1	ORPHA:314679
HP:0002011	Morphological central nervous system abnormality	26040	SETBP1	OMIM:269150
HP:0002011	Morphological central nervous system abnormality	26040	SETBP1	ORPHA:798
HP:0002011	Morphological central nervous system abnormality	5518	PPP2R1A	OMIM:616362
HP:0002011	Morphological central nervous system abnormality	5518	PPP2R1A	ORPHA:457284
HP:0002011	Morphological central nervous system abnormality	9895	TECPR2	OMIM:615031
HP:0002011	Morphological central nervous system abnormality	9895	TECPR2	ORPHA:320385
HP:0002011	Morphological central nervous system abnormality	10717	AP4B1	OMIM:614066
HP:0002011	Morphological central nervous system abnormality	10717	AP4B1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	84879	MFSD2A	OMIM:616486
HP:0002011	Morphological central nervous system abnormality	91574	MTRFR	OMIM:615035
HP:0002011	Morphological central nervous system abnormality	91574	MTRFR	ORPHA:320375
HP:0002011	Morphological central nervous system abnormality	91574	MTRFR	ORPHA:254930
HP:0002011	Morphological central nervous system abnormality	84504	NKX6-2	ORPHA:527497
HP:0002011	Morphological central nervous system abnormality	23126	POGZ	OMIM:616364
HP:0002011	Morphological central nervous system abnormality	23126	POGZ	ORPHA:468678
HP:0002011	Morphological central nervous system abnormality	55773	TBC1D23	OMIM:617695
HP:0002011	Morphological central nervous system abnormality	8558	CDK10	OMIM:617694
HP:0002011	Morphological central nervous system abnormality	51633	OTUD6B	OMIM:617452
HP:0002011	Morphological central nervous system abnormality	7531	YWHAE	ORPHA:217385
HP:0002011	Morphological central nervous system abnormality	7531	YWHAE	ORPHA:531
HP:0002011	Morphological central nervous system abnormality	3098	HK1	OMIM:618547
HP:0002011	Morphological central nervous system abnormality	26137	ZBTB20	OMIM:259050
HP:0002011	Morphological central nervous system abnormality	1615	DARS1	OMIM:615281
HP:0002011	Morphological central nervous system abnormality	3800	KIF5C	OMIM:615282
HP:0002011	Morphological central nervous system abnormality	253959	RALGAPA1	OMIM:618797
HP:0002011	Morphological central nervous system abnormality	2232	FDXR	ORPHA:543470
HP:0002011	Morphological central nervous system abnormality	51098	IFT52	OMIM:617102
HP:0002011	Morphological central nervous system abnormality	4849	CNOT3	OMIM:618672
HP:0002011	Morphological central nervous system abnormality	6506	SLC1A2	OMIM:617105
HP:0002011	Morphological central nervous system abnormality	10297	APC2	OMIM:618677
HP:0002011	Morphological central nervous system abnormality	25973	PARS2	OMIM:618437
HP:0002011	Morphological central nervous system abnormality	2558	GABRA5	OMIM:618559
HP:0002011	Morphological central nervous system abnormality	79633	FAT4	ORPHA:314679
HP:0002011	Morphological central nervous system abnormality	79633	FAT4	OMIM:615546
HP:0002011	Morphological central nervous system abnormality	7841	MOGS	ORPHA:79330
HP:0002011	Morphological central nervous system abnormality	7841	MOGS	OMIM:606056
HP:0002011	Morphological central nervous system abnormality	4208	MEF2C	ORPHA:228384
HP:0002011	Morphological central nervous system abnormality	23162	MAPK8IP3	OMIM:618443
HP:0002011	Morphological central nervous system abnormality	3798	KIF5A	OMIM:617235
HP:0002011	Morphological central nervous system abnormality	8565	YARS1	OMIM:619418
HP:0002011	Morphological central nervous system abnormality	51227	PIGP	OMIM:617599
HP:0002011	Morphological central nervous system abnormality	51227	PIGP	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	374969	SVBP	OMIM:618569
HP:0002011	Morphological central nervous system abnormality	51062	ATL1	OMIM:182600
HP:0002011	Morphological central nervous system abnormality	79053	ALG8	ORPHA:79325
HP:0002011	Morphological central nervous system abnormality	9896	FIG4	OMIM:216340
HP:0002011	Morphological central nervous system abnormality	8295	TRRAP	OMIM:618454
HP:0002011	Morphological central nervous system abnormality	7040	TGFB1	OMIM:618213
HP:0002011	Morphological central nervous system abnormality	58497	PRUNE1	OMIM:617481
HP:0002011	Morphological central nervous system abnormality	5881	RAC3	OMIM:618577
HP:0002011	Morphological central nervous system abnormality	51013	EXOSC1	OMIM:619304
HP:0002011	Morphological central nervous system abnormality	55770	EXOC2	OMIM:619306
HP:0002011	Morphological central nervous system abnormality	6792	CDKL5	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	3736	KCNA1	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	9091	PIGQ	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	81603	TRIM8	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	79751	SLC25A22	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	150094	SIK1	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	8573	CASK	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	23312	DMXL2	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	2917	GRM7	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	2917	GRM7	OMIM:618922
HP:0002011	Morphological central nervous system abnormality	170302	ARX	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	11284	PNKP	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	11284	PNKP	OMIM:613402
HP:0002011	Morphological central nervous system abnormality	4761	NEUROD2	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	4761	NEUROD2	OMIM:618374
HP:0002011	Morphological central nervous system abnormality	9488	PIGB	OMIM:618580
HP:0002011	Morphological central nervous system abnormality	84706	GPT2	OMIM:616281
HP:0002011	Morphological central nervous system abnormality	84706	GPT2	ORPHA:477673
HP:0002011	Morphological central nervous system abnormality	79876	UBA5	OMIM:617132
HP:0002011	Morphological central nervous system abnormality	8506	CNTNAP1	OMIM:616286
HP:0002011	Morphological central nervous system abnormality	8506	CNTNAP1	OMIM:618186
HP:0002011	Morphological central nervous system abnormality	2187	FANCB	OMIM:300514
HP:0002011	Morphological central nervous system abnormality	10765	KDM5B	OMIM:618109
HP:0002011	Morphological central nervous system abnormality	10564	ARFGEF2	OMIM:608097
HP:0002011	Morphological central nervous system abnormality	51412	ACTL6B	OMIM:618468
HP:0002011	Morphological central nervous system abnormality	51412	ACTL6B	OMIM:618470
HP:0002011	Morphological central nervous system abnormality	2671	GFER	ORPHA:330054
HP:0002011	Morphological central nervous system abnormality	11160	ERLIN2	ORPHA:209951
HP:0002011	Morphological central nervous system abnormality	11160	ERLIN2	OMIM:611225
HP:0002011	Morphological central nervous system abnormality	56945	MRPS22	OMIM:611719
HP:0002011	Morphological central nervous system abnormality	128869	PIGU	OMIM:618590
HP:0002011	Morphological central nervous system abnormality	5631	PRPS1	ORPHA:423479
HP:0002011	Morphological central nervous system abnormality	7707	ZNF148	OMIM:617260
HP:0002011	Morphological central nervous system abnormality	1349	COX7B	OMIM:300887
HP:0002011	Morphological central nervous system abnormality	5515	PPP2CA	OMIM:618354
HP:0002011	Morphological central nervous system abnormality	55610	VPS50	OMIM:619685
HP:0002011	Morphological central nervous system abnormality	55262	TRAPPC14	OMIM:618351
HP:0002011	Morphological central nervous system abnormality	1654	DDX3X	ORPHA:457260
HP:0002011	Morphological central nervous system abnormality	1654	DDX3X	OMIM:300958
HP:0002011	Morphological central nervous system abnormality	26128	KIFBP	ORPHA:66629
HP:0002011	Morphological central nervous system abnormality	26128	KIFBP	OMIM:609460
HP:0002011	Morphological central nervous system abnormality	154881	KCTD7	OMIM:611726
HP:0002011	Morphological central nervous system abnormality	9179	AP4M1	OMIM:612936
HP:0002011	Morphological central nervous system abnormality	9179	AP4M1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	4784	NFIX	OMIM:602535
HP:0002011	Morphological central nervous system abnormality	4784	NFIX	ORPHA:420179
HP:0002011	Morphological central nervous system abnormality	4784	NFIX	OMIM:614753
HP:0002011	Morphological central nervous system abnormality	22796	COG2	OMIM:617395
HP:0002011	Morphological central nervous system abnormality	22796	COG2	ORPHA:435934
HP:0002011	Morphological central nervous system abnormality	2560	GABRB1	OMIM:617153
HP:0002011	Morphological central nervous system abnormality	23221	RHOBTB2	OMIM:618004
HP:0002011	Morphological central nervous system abnormality	8120	AP3B2	OMIM:617276
HP:0002011	Morphological central nervous system abnormality	7965	AIMP2	OMIM:618006
HP:0002011	Morphological central nervous system abnormality	7703	PCGF2	OMIM:618371
HP:0002011	Morphological central nervous system abnormality	1781	DYNC1I2	OMIM:618492
HP:0002011	Morphological central nervous system abnormality	29968	PSAT1	ORPHA:284417
HP:0002011	Morphological central nervous system abnormality	191	AHCY	ORPHA:88618
HP:0002011	Morphological central nervous system abnormality	51324	SPG21	ORPHA:101001
HP:0002011	Morphological central nervous system abnormality	7161	TP73	OMIM:619466
HP:0002011	Morphological central nervous system abnormality	11342	RNF13	OMIM:618379
HP:0002011	Morphological central nervous system abnormality	11342	RNF13	ORPHA:544503
HP:0002011	Morphological central nervous system abnormality	9758	FRMPD4	OMIM:300983
HP:0002011	Morphological central nervous system abnormality	5277	PIGA	OMIM:300868
HP:0002011	Morphological central nervous system abnormality	1822	ATN1	OMIM:618494
HP:0002011	Morphological central nervous system abnormality	523	ATP6V1A	OMIM:618012
HP:0002011	Morphological central nervous system abnormality	523	ATP6V1A	OMIM:617403
HP:0002011	Morphological central nervous system abnormality	8883	NAE1	OMIM:620210
HP:0002011	Morphological central nervous system abnormality	80185	TTI2	ORPHA:391307
HP:0002011	Morphological central nervous system abnormality	50801	KCNK4	OMIM:618381
HP:0002011	Morphological central nervous system abnormality	11340	EXOSC8	OMIM:616081
HP:0002011	Morphological central nervous system abnormality	84265	POLR3GL	OMIM:619234
HP:0002011	Morphological central nervous system abnormality	2892	GRIA3	ORPHA:364028
HP:0002011	Morphological central nervous system abnormality	348180	CTU2	OMIM:618142
HP:0002011	Morphological central nervous system abnormality	2571	GAD1	OMIM:619124
HP:0002011	Morphological central nervous system abnormality	2222	FDFT1	OMIM:618156
HP:0002011	Morphological central nervous system abnormality	285590	SH3PXD2B	OMIM:249420
HP:0002011	Morphological central nervous system abnormality	90522	YIF1B	OMIM:619125
HP:0002011	Morphological central nervous system abnormality	374354	NHLRC2	OMIM:618278
HP:0002011	Morphological central nervous system abnormality	8239	USP9X	OMIM:300968
HP:0002011	Morphological central nervous system abnormality	8239	USP9X	ORPHA:480880
HP:0002011	Morphological central nervous system abnormality	9326	ZNHIT3	OMIM:260565
HP:0002011	Morphological central nervous system abnormality	6472	SHMT2	OMIM:619121
HP:0002011	Morphological central nervous system abnormality	29123	ANKRD11	ORPHA:261250
HP:0002011	Morphological central nervous system abnormality	118924	FRA10AC1	OMIM:620113
HP:0002011	Morphological central nervous system abnormality	8911	CACNA1I	OMIM:620114
HP:0002011	Morphological central nervous system abnormality	93587	TRMT10A	ORPHA:391408
HP:0002011	Morphological central nervous system abnormality	84919	PPP1R15B	ORPHA:391408
HP:0002011	Morphological central nervous system abnormality	84919	PPP1R15B	OMIM:616817
HP:0002011	Morphological central nervous system abnormality	3090	HIC1	ORPHA:531
HP:0002011	Morphological central nervous system abnormality	6748	SSR4	ORPHA:370927
HP:0002011	Morphological central nervous system abnormality	6748	SSR4	OMIM:300934
HP:0002011	Morphological central nervous system abnormality	2177	FANCD2	OMIM:227646
HP:0002011	Morphological central nervous system abnormality	340533	NEXMIF	ORPHA:85277
HP:0002011	Morphological central nervous system abnormality	89970	RSPRY1	ORPHA:457395
HP:0002011	Morphological central nervous system abnormality	124454	EARS2	OMIM:614924
HP:0002011	Morphological central nervous system abnormality	10079	ATP9A	OMIM:620242
HP:0002011	Morphological central nervous system abnormality	129285	PPP1R21	OMIM:619383
HP:0002011	Morphological central nervous system abnormality	221927	BRAT1	OMIM:618056
HP:0002011	Morphological central nervous system abnormality	3480	IGF1R	OMIM:270450
HP:0002011	Morphological central nervous system abnormality	6095	RORA	OMIM:618060
HP:0002011	Morphological central nervous system abnormality	11113	CIT	OMIM:617090
HP:0002011	Morphological central nervous system abnormality	6535	SLC6A8	OMIM:300352
HP:0002011	Morphological central nervous system abnormality	7355	SLC35A2	ORPHA:356961
HP:0002011	Morphological central nervous system abnormality	7355	SLC35A2	OMIM:300896
HP:0002011	Morphological central nervous system abnormality	347734	SLC35B2	OMIM:620269
HP:0002011	Morphological central nervous system abnormality	781	CACNA2D1	OMIM:620149
HP:0002011	Morphological central nervous system abnormality	132158	GLYCTK	ORPHA:941
HP:0002011	Morphological central nervous system abnormality	57176	VARS2	OMIM:615917
HP:0002011	Morphological central nervous system abnormality	89910	UBE3B	OMIM:244450
HP:0002011	Morphological central nervous system abnormality	9915	ARNT2	OMIM:615926
HP:0002011	Morphological central nervous system abnormality	57582	KCNT1	OMIM:614959
HP:0002011	Morphological central nervous system abnormality	271	AMPD2	OMIM:615809
HP:0002011	Morphological central nervous system abnormality	271	AMPD2	OMIM:615686
HP:0002011	Morphological central nervous system abnormality	57492	ARID1B	OMIM:135900
HP:0002011	Morphological central nervous system abnormality	501	ALDH7A1	ORPHA:3006
HP:0002011	Morphological central nervous system abnormality	11212	PLPBP	ORPHA:3006
HP:0002011	Morphological central nervous system abnormality	57531	HACE1	ORPHA:464282
HP:0002011	Morphological central nervous system abnormality	57531	HACE1	OMIM:616756
HP:0002011	Morphological central nervous system abnormality	23400	ATP13A2	ORPHA:513436
HP:0002011	Morphological central nervous system abnormality	80856	LNPK	OMIM:618090
HP:0002011	Morphological central nervous system abnormality	4338	MOCS2	OMIM:252160
HP:0002011	Morphological central nervous system abnormality	2752	GLUL	OMIM:610015
HP:0002011	Morphological central nervous system abnormality	9907	AP5Z1	OMIM:613647
HP:0002011	Morphological central nervous system abnormality	9907	AP5Z1	ORPHA:306511
HP:0002011	Morphological central nervous system abnormality	54496	PRMT7	ORPHA:464288
HP:0002011	Morphological central nervous system abnormality	23265	EXOC7	OMIM:619072
HP:0002011	Morphological central nervous system abnormality	9653	HS2ST1	OMIM:619194
HP:0002011	Morphological central nervous system abnormality	1798	DPAGT1	ORPHA:86309
HP:0002011	Morphological central nervous system abnormality	1267	CNP	OMIM:619071
HP:0002011	Morphological central nervous system abnormality	149371	EXOC8	OMIM:619076
HP:0002011	Morphological central nervous system abnormality	57498	KIDINS220	ORPHA:521390
HP:0002011	Morphological central nervous system abnormality	56006	SMG9	OMIM:616920
HP:0002011	Morphological central nervous system abnormality	285175	UNC80	OMIM:616801
HP:0002011	Morphological central nervous system abnormality	285175	UNC80	ORPHA:371364
HP:0002011	Morphological central nervous system abnormality	79753	SNIP1	OMIM:614501
HP:0002011	Morphological central nervous system abnormality	54499	TMCO1	OMIM:213980
HP:0002011	Morphological central nervous system abnormality	54499	TMCO1	ORPHA:1394
HP:0002011	Morphological central nervous system abnormality	11128	POLR3A	ORPHA:447896
HP:0002011	Morphological central nervous system abnormality	11128	POLR3A	OMIM:607694
HP:0002011	Morphological central nervous system abnormality	10236	HNRNPR	OMIM:620073
HP:0002011	Morphological central nervous system abnormality	23503	ZFYVE26	OMIM:270700
HP:0002011	Morphological central nervous system abnormality	23503	ZFYVE26	ORPHA:100996
HP:0002011	Morphological central nervous system abnormality	58508	KMT2C	ORPHA:261652
HP:0002011	Morphological central nervous system abnormality	4094	MAF	ORPHA:1272
HP:0002011	Morphological central nervous system abnormality	5591	PRKDC	OMIM:615966
HP:0002011	Morphological central nervous system abnormality	51244	CCDC174	OMIM:616816
HP:0002011	Morphological central nervous system abnormality	55275	VPS53	OMIM:615851
HP:0002011	Morphological central nervous system abnormality	57704	GBA2	OMIM:614409
HP:0002011	Morphological central nervous system abnormality	200403	VWA3B	OMIM:616948
HP:0002011	Morphological central nervous system abnormality	85021	REPS1	OMIM:617916
HP:0002011	Morphological central nervous system abnormality	85440	DOCK7	OMIM:615859
HP:0002011	Morphological central nervous system abnormality	85440	DOCK7	ORPHA:411986
HP:0002011	Morphological central nervous system abnormality	9276	COPB2	OMIM:617800
HP:0002011	Morphological central nervous system abnormality	7407	VARS1	OMIM:617802
HP:0002011	Morphological central nervous system abnormality	7490	WT1	OMIM:106210
HP:0002011	Morphological central nervous system abnormality	5080	PAX6	OMIM:106210
HP:0002011	Morphological central nervous system abnormality	10075	HUWE1	OMIM:309590
HP:0002011	Morphological central nervous system abnormality	91949	COG7	OMIM:608779
HP:0002011	Morphological central nervous system abnormality	2290	FOXG1	OMIM:613454
HP:0002011	Morphological central nervous system abnormality	6328	SCN3A	OMIM:617938
HP:0002011	Morphological central nervous system abnormality	6658	SOX3	ORPHA:67045
HP:0002011	Morphological central nervous system abnormality	79587	CARS2	ORPHA:477774
HP:0002011	Morphological central nervous system abnormality	79587	CARS2	OMIM:616672
HP:0002011	Morphological central nervous system abnormality	23291	FBXW11	OMIM:618914
HP:0002011	Morphological central nervous system abnormality	998	CDC42	OMIM:616737
HP:0002011	Morphological central nervous system abnormality	998	CDC42	ORPHA:487796
HP:0002011	Morphological central nervous system abnormality	50	ACO2	OMIM:614559
HP:0002011	Morphological central nervous system abnormality	3097	HIVEP2	OMIM:616977
HP:0002011	Morphological central nervous system abnormality	10982	MAPRE2	OMIM:616734
HP:0002011	Morphological central nervous system abnormality	5053	PAH	ORPHA:2209
HP:0002011	Morphological central nervous system abnormality	4131	MAP1B	OMIM:618918
HP:0002011	Morphological central nervous system abnormality	23511	NUP188	OMIM:618804
HP:0002011	Morphological central nervous system abnormality	2058	EPRS1	OMIM:617951
HP:0002011	Morphological central nervous system abnormality	57511	COG6	OMIM:614576
HP:0002011	Morphological central nervous system abnormality	23065	EMC1	OMIM:616875
HP:0002011	Morphological central nervous system abnormality	128637	TBC1D20	OMIM:615663
HP:0002011	Morphological central nervous system abnormality	1729	DIAPH1	OMIM:616632
HP:0002011	Morphological central nervous system abnormality	9419	CRIPT	OMIM:615789
HP:0002011	Morphological central nervous system abnormality	7874	USP7	ORPHA:500055
HP:0002011	Morphological central nervous system abnormality	340075	ARSI	ORPHA:401815
HP:0002011	Morphological central nervous system abnormality	22931	RAB18	OMIM:614222
HP:0002011	Morphological central nervous system abnormality	4337	MOCS1	OMIM:252150
HP:0002011	Morphological central nervous system abnormality	29957	SLC25A24	OMIM:612289
HP:0002011	Morphological central nervous system abnormality	4329	ALDH6A1	OMIM:614105
HP:0002011	Morphological central nervous system abnormality	259232	NALCN	ORPHA:371364
HP:0002011	Morphological central nervous system abnormality	23556	PIGN	ORPHA:280633
HP:0002011	Morphological central nervous system abnormality	54880	BCOR	OMIM:300166
HP:0002011	Morphological central nervous system abnormality	5162	PDHB	ORPHA:255138
HP:0002011	Morphological central nervous system abnormality	122553	TRAPPC6B	OMIM:617862
HP:0002011	Morphological central nervous system abnormality	51124	IER3IP1	OMIM:614231
HP:0002011	Morphological central nervous system abnormality	2893	GRIA4	OMIM:617864
HP:0002011	Morphological central nervous system abnormality	55704	CCDC88A	OMIM:617507
HP:0002011	Morphological central nervous system abnormality	11154	AP4S1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	23431	AP4E1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	4841	NONO	ORPHA:466791
HP:0002011	Morphological central nervous system abnormality	4047	LSS	OMIM:618840
HP:0002011	Morphological central nervous system abnormality	5879	RAC1	OMIM:617751
HP:0002011	Morphological central nervous system abnormality	5879	RAC1	ORPHA:500159
HP:0002011	Morphological central nervous system abnormality	440	ASNS	OMIM:615574
HP:0002011	Morphological central nervous system abnormality	738	VPS51	OMIM:618606
HP:0002011	Morphological central nervous system abnormality	5116	PCNT	ORPHA:2637
HP:0002011	Morphological central nervous system abnormality	2806	GOT2	OMIM:618721
HP:0002011	Morphological central nervous system abnormality	51663	ZFR	ORPHA:401840
HP:0002011	Morphological central nervous system abnormality	1468	SLC25A10	OMIM:618972
HP:0002011	Morphological central nervous system abnormality	1968	EIF2S3	OMIM:300148
HP:0002011	Morphological central nervous system abnormality	5307	PITX1	OMIM:119800
HP:0002011	Morphological central nervous system abnormality	51075	TMX2	OMIM:618730
HP:0002011	Morphological central nervous system abnormality	8884	SLC5A6	OMIM:618973
HP:0002011	Morphological central nervous system abnormality	7305	TYROBP	OMIM:221770
HP:0002011	Morphological central nervous system abnormality	55331	ACER3	OMIM:617762
HP:0002011	Morphological central nervous system abnormality	22978	NT5C2	OMIM:613162
HP:0002011	Morphological central nervous system abnormality	10844	TUBGCP2	OMIM:618737
HP:0002011	Morphological central nervous system abnormality	4858	NOVA2	OMIM:618859
HP:0002011	Morphological central nervous system abnormality	84148	KAT8	OMIM:618974
HP:0002011	Morphological central nervous system abnormality	55753	OGDHL	OMIM:619701
HP:0002011	Morphological central nervous system abnormality	58499	ZNF462	OMIM:618619
HP:0002011	Morphological central nervous system abnormality	57514	ARHGAP31	OMIM:100300
HP:0002011	Morphological central nervous system abnormality	57514	ARHGAP31	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	84172	POLR1B	ORPHA:861
HP:0002011	Morphological central nervous system abnormality	9533	POLR1C	ORPHA:861
HP:0002011	Morphological central nervous system abnormality	51082	POLR1D	ORPHA:861
HP:0002011	Morphological central nervous system abnormality	6949	TCOF1	ORPHA:861
HP:0002011	Morphological central nervous system abnormality	4867	NPHP1	ORPHA:220497
HP:0002011	Morphological central nervous system abnormality	3516	RBPJ	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	4851	NOTCH1	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	57572	DOCK6	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	285203	EOGT	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	54567	DLL4	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	2317	FLNB	OMIM:108720
HP:0002011	Morphological central nervous system abnormality	3912	LAMB1	OMIM:615191
HP:0002011	Morphological central nervous system abnormality	3912	LAMB1	ORPHA:352682
HP:0002011	Morphological central nervous system abnormality	3339	HSPG2	OMIM:224410
HP:0002011	Morphological central nervous system abnormality	10992	SF3B2	OMIM:164210
HP:0002011	Morphological central nervous system abnormality	3239	HOXD13	ORPHA:887
HP:0002011	Morphological central nervous system abnormality	56603	CYP26B1	OMIM:614416
HP:0002011	Morphological central nervous system abnormality	5062	PAK2	ORPHA:1571
HP:0002011	Morphological central nervous system abnormality	51111	KMT5B	OMIM:617788
HP:0002011	Morphological central nervous system abnormality	113189	CHST14	ORPHA:2953
HP:0002011	Morphological central nervous system abnormality	113189	CHST14	OMIM:601776
HP:0002011	Morphological central nervous system abnormality	3340	NDST1	OMIM:616116
HP:0002011	Morphological central nervous system abnormality	2203	FBP1	ORPHA:348
HP:0002011	Morphological central nervous system abnormality	84168	ANTXR1	OMIM:230740
HP:0002011	Morphological central nervous system abnormality	10102	TSFM	OMIM:610505
HP:0002011	Morphological central nervous system abnormality	650	BMP2	ORPHA:261295
HP:0002011	Morphological central nervous system abnormality	23729	SHPK	ORPHA:440713
HP:0002011	Morphological central nervous system abnormality	4952	OCRL	ORPHA:534
HP:0002011	Morphological central nervous system abnormality	4952	OCRL	OMIM:309000
HP:0002011	Morphological central nervous system abnormality	1108	CHD4	OMIM:617159
HP:0002011	Morphological central nervous system abnormality	633	BGN	OMIM:300989
HP:0002011	Morphological central nervous system abnormality	57538	ALPK3	OMIM:618052
HP:0002011	Morphological central nervous system abnormality	9570	GOSR2	OMIM:620166
HP:0002011	Morphological central nervous system abnormality	4591	TRIM37	OMIM:253250
HP:0002011	Morphological central nervous system abnormality	23483	TGDS	ORPHA:1388
HP:0002011	Morphological central nervous system abnormality	27152	INTU	OMIM:617926
HP:0002011	Morphological central nervous system abnormality	11133	KPTN	OMIM:615637
HP:0002011	Morphological central nervous system abnormality	57674	RNF213	ORPHA:2573
HP:0002011	Morphological central nervous system abnormality	50943	FOXP3	OMIM:304790
HP:0002011	Morphological central nervous system abnormality	10943	MSL3	OMIM:301032
HP:0002011	Morphological central nervous system abnormality	8985	PLOD3	OMIM:612394
HP:0002011	Morphological central nervous system abnormality	8936	WASF1	OMIM:618707
HP:0002011	Morphological central nervous system abnormality	3852	KRT5	ORPHA:79396
HP:0002011	Morphological central nervous system abnormality	3861	KRT14	ORPHA:79396
HP:0002011	Morphological central nervous system abnormality	25792	CIZ1	ORPHA:420492
HP:0002011	Morphological central nervous system abnormality	8722	CTSF	OMIM:615362
HP:0002011	Morphological central nervous system abnormality	348	APOE	OMIM:607822
HP:0002011	Morphological central nervous system abnormality	51761	ATP8A2	OMIM:615268
HP:0002011	Morphological central nervous system abnormality	4582	MUC1	OMIM:174000
HP:0002011	Morphological central nervous system abnormality	493856	CISD2	ORPHA:3463
HP:0002011	Morphological central nervous system abnormality	5664	PSEN2	ORPHA:1020
HP:0002011	Morphological central nervous system abnormality	10452	TOMM40	ORPHA:1020
HP:0002011	Morphological central nervous system abnormality	6653	SORL1	ORPHA:1020
HP:0002011	Morphological central nervous system abnormality	27249	MMADHC	OMIM:277410
HP:0002011	Morphological central nervous system abnormality	55630	SLC39A4	ORPHA:37
HP:0002011	Morphological central nervous system abnormality	54834	GDAP2	OMIM:618369
HP:0002011	Morphological central nervous system abnormality	7399	USH2A	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	79955	PDZD7	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	4647	MYO7A	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	4647	MYO7A	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	25861	WHRN	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	60558	GUF1	OMIM:617065
HP:0002011	Morphological central nervous system abnormality	777	CACNA1E	OMIM:618285
HP:0002011	Morphological central nervous system abnormality	10083	USH1C	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	124590	USH1G	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	83715	ESPN	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	10518	CIB2	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	65217	PCDH15	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	93986	FOXP2	OMIM:602081
HP:0002011	Morphological central nervous system abnormality	9636	ISG15	OMIM:616126
HP:0002011	Morphological central nervous system abnormality	2767	GNA11	OMIM:615361
HP:0002011	Morphological central nervous system abnormality	2625	GATA3	OMIM:146255
HP:0002011	Morphological central nervous system abnormality	760	CA2	OMIM:259730
HP:0002011	Morphological central nervous system abnormality	760	CA2	ORPHA:2785
HP:0002011	Morphological central nervous system abnormality	90	ACVR1	OMIM:135100
HP:0002011	Morphological central nervous system abnormality	56984	PSMG2	OMIM:619183
HP:0002011	Morphological central nervous system abnormality	846	CASR	OMIM:601198
HP:0002011	Morphological central nervous system abnormality	113235	SLC46A1	OMIM:229050
HP:0002011	Morphological central nervous system abnormality	5696	PSMB8	OMIM:256040
HP:0002011	Morphological central nervous system abnormality	2159	F10	ORPHA:328
HP:0002011	Morphological central nervous system abnormality	2811	GP1BA	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	3673	ITGA2	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	135228	CD109	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	3690	ITGB3	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	81031	SLC2A10	OMIM:208050
HP:0002011	Morphological central nervous system abnormality	3110	MNX1	OMIM:176450
HP:0002011	Morphological central nervous system abnormality	2155	F7	OMIM:227500
HP:0002011	Morphological central nervous system abnormality	2155	F7	ORPHA:327
HP:0002011	Morphological central nervous system abnormality	2624	GATA2	ORPHA:3226
HP:0002011	Morphological central nervous system abnormality	5345	SERPINF2	ORPHA:79
HP:0002011	Morphological central nervous system abnormality	249	ALPL	OMIM:241500
HP:0002011	Morphological central nervous system abnormality	3998	LMAN1	ORPHA:35909
HP:0002011	Morphological central nervous system abnormality	90411	MCFD2	ORPHA:35909
HP:0002011	Morphological central nervous system abnormality	1584	CYP11B1	ORPHA:90795
HP:0002011	Morphological central nervous system abnormality	1584	CYP11B1	ORPHA:403
HP:0002011	Morphological central nervous system abnormality	1585	CYP11B2	ORPHA:403
HP:0002011	Morphological central nervous system abnormality	776	CACNA1D	ORPHA:369929
HP:0002011	Morphological central nervous system abnormality	3762	KCNJ5	ORPHA:251274
HP:0002011	Morphological central nervous system abnormality	5251	PHEX	OMIM:307800
HP:0002011	Morphological central nervous system abnormality	1836	SLC26A2	OMIM:222600
HP:0002011	Morphological central nervous system abnormality	25871	NEPRO	OMIM:618853
HP:0002011	Morphological central nervous system abnormality	2304	FOXE1	ORPHA:319487
HP:0002011	Morphological central nervous system abnormality	3026	HABP2	ORPHA:319487
HP:0002011	Morphological central nervous system abnormality	567	B2M	ORPHA:314652
HP:0002011	Morphological central nervous system abnormality	8148	TAF15	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5445	PON2	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	55830	GLT8D1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	755	CFAP410	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	10891	PPARGC1A	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	10133	OPTN	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5444	PON1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5446	PON3	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5216	PFN1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	9782	MATR3	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	283	ANG	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	29978	UBQLN2	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	2043	EPHA4	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	1610	DAO	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	2066	ERBB4	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	23025	UNC13A	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	899	CCNF	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	2348	FOLR1	OMIM:613068
HP:0002011	Morphological central nervous system abnormality	34	ACADM	OMIM:201450
HP:0002011	Morphological central nervous system abnormality	1629	DBT	OMIM:248600
HP:0002011	Morphological central nervous system abnormality	593	BCKDHA	OMIM:248600
HP:0002011	Morphological central nervous system abnormality	594	BCKDHB	OMIM:248600
HP:0002011	Morphological central nervous system abnormality	10165	SLC25A13	ORPHA:247585
HP:0002011	Morphological central nervous system abnormality	10165	SLC25A13	OMIM:603471
HP:0002011	Morphological central nervous system abnormality	435	ASL	OMIM:207900
HP:0002011	Morphological central nervous system abnormality	708	C1QBP	OMIM:617713
HP:0002011	Morphological central nervous system abnormality	10577	NPC2	OMIM:607625
HP:0002011	Morphological central nervous system abnormality	9445	ITM2B	OMIM:117300
HP:0002011	Morphological central nervous system abnormality	4353	MPO	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	3077	HFE	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	5328	PLAU	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	4864	NPC1	OMIM:257220
HP:0002011	Morphological central nervous system abnormality	497661	C18orf32	OMIM:619985
HP:0002011	Morphological central nervous system abnormality	54914	FOCAD	OMIM:619991
HP:0002011	Morphological central nervous system abnormality	27086	FOXP1	OMIM:613670
HP:0002011	Morphological central nervous system abnormality	8218	CLTCL1	ORPHA:453510
HP:0002011	Morphological central nervous system abnormality	91461	PKDCC	OMIM:618821
HP:0002011	Morphological central nervous system abnormality	9739	SETD1A	OMIM:618832
HP:0002011	Morphological central nervous system abnormality	23154	NCDN	OMIM:619373
HP:0002011	Morphological central nervous system abnormality	29928	TIMM22	OMIM:618851
HP:0002011	Morphological central nervous system abnormality	686	BTD	ORPHA:79241
HP:0002011	Morphological central nervous system abnormality	51684	SUFU	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	54806	AHI1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	153241	CEP120	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65250	CPLANE1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65250	CPLANE1	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	200894	ARL13B	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	9731	CEP104	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	219844	HYLS1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	23247	KATNIP	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	219854	TMEM218	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	95681	CEP41	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	9786	KIAA0586	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	56623	INPP5E	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	56623	INPP5E	ORPHA:1454
HP:0002011	Morphological central nervous system abnormality	10464	PIBF1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	80210	ARMC9	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	23116	TOGARAM1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	25776	CBY1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	403	ARL3	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	284403	WDR62	OMIM:604317
HP:0002011	Morphological central nervous system abnormality	1376	CPT2	OMIM:608836
HP:0002011	Morphological central nervous system abnormality	1376	CPT2	ORPHA:228308
HP:0002011	Morphological central nervous system abnormality	3769	KCNJ13	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	343035	RD3	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	145226	RDH12	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	1406	CRX	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	64802	NMNAT1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	10383	TUBB4B	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9742	IFT140	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	85015	USP45	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	6121	RPE65	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	23418	CRB1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	5130	PCYT1A	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9657	IQCB1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	392255	GDF6	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	23746	AIPL1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	3000	GUCY2D	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9227	LRAT	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	55812	SPATA7	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	7287	TULP1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	167691	LCA5	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	3614	IMPDH1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	55670	PEX26	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5824	PEX19	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5828	PEX2	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	8504	PEX3	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	9409	PEX16	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5190	PEX6	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	8799	PEX11B	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5830	PEX5	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5189	PEX1	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5193	PEX12	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5194	PEX13	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5195	PEX14	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5192	PEX10	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	6197	RPS6KA3	ORPHA:192
HP:0002011	Morphological central nervous system abnormality	57187	THOC2	OMIM:300957
HP:0002011	Morphological central nervous system abnormality	5155	PDGFB	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	9213	XPR1	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	5159	PDGFRB	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	57462	MYORG	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	6575	SLC20A2	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	58494	JAM2	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	85378	TUBGCP6	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	27229	TUBGCP4	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	10733	PLK4	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	4683	NBN	ORPHA:647
HP:0002011	Morphological central nervous system abnormality	84942	WDR73	OMIM:251300
HP:0002011	Morphological central nervous system abnormality	84942	WDR73	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	9289	ADGRG1	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	5297	PI4KA	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	27286	SRPX2	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	2261	FGFR3	ORPHA:93274
HP:0002011	Morphological central nervous system abnormality	51524	TMEM138	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	23090	ZNF423	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	1859	DYRK1A	ORPHA:464311
HP:0002011	Morphological central nervous system abnormality	26047	CNTNAP2	ORPHA:163681
HP:0002011	Morphological central nervous system abnormality	28514	DLL1	OMIM:618709
HP:0002011	Morphological central nervous system abnormality	10210	TOPORS	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	9851	KIAA0753	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	5147	PDE6D	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	8481	OFD1	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	317662	FAM149B1	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	374654	KIF7	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	9897	WASHC5	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	28952	CCDC22	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	1718	DHCR24	ORPHA:35107
HP:0002011	Morphological central nervous system abnormality	2316	FLNA	OMIM:300049
HP:0002011	Morphological central nervous system abnormality	5649	RELN	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	10300	KATNB1	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	54820	NDE1	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	51002	TPRKB	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55644	OSGEP	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	57122	NUP107	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	10785	WDR4	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55746	NUP133	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	112858	TP53RK	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	8270	LAGE3	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55780	ERMARD	ORPHA:75857
HP:0002011	Morphological central nervous system abnormality	9215	LARGE1	OMIM:608840
HP:0002011	Morphological central nervous system abnormality	9215	LARGE1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	84892	POMGNT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	148789	B3GALNT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	79147	FKRP	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	29954	POMT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	1282	COL4A1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	729920	CRPPA	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	10329	RXYLT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	1605	DAG1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	11041	B4GAT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	10585	POMT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	84197	POMK	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	2218	FKTN	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	55624	POMGNT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	23013	SPEN	OMIM:619312
HP:0002011	Morphological central nervous system abnormality	5728	PTEN	ORPHA:744
HP:0002011	Morphological central nervous system abnormality	440138	ALG11	ORPHA:280071
HP:0002011	Morphological central nervous system abnormality	84162	BLTP1	OMIM:617822
HP:0002011	Morphological central nervous system abnormality	284217	LAMA1	OMIM:615960
HP:0002011	Morphological central nervous system abnormality	9968	MED12	OMIM:305450
HP:0002011	Morphological central nervous system abnormality	57724	EPG5	OMIM:242840
HP:0002011	Morphological central nervous system abnormality	57724	EPG5	ORPHA:1493
HP:0002011	Morphological central nervous system abnormality	92255	LMBRD2	OMIM:619694
HP:0002011	Morphological central nervous system abnormality	11274	USP18	OMIM:617397
HP:0002011	Morphological central nervous system abnormality	2678	GGT1	OMIM:231950
HP:0002011	Morphological central nervous system abnormality	8777	MPDZ	OMIM:615219
HP:0002011	Morphological central nervous system abnormality	4292	MLH1	OMIM:276300
HP:0002011	Morphological central nervous system abnormality	22995	CEP152	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	163786	SASS6	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	4176	MCM7	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	80254	CEP63	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	29081	METTL5	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	23310	NCAPD3	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	23141	ANKLE2	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	7109	TRAPPC10	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	1911	PHC1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	6884	TAF13	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	9662	CEP135	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	57082	KNL1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	1021	CDK6	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	286204	CRB2	OMIM:219730
HP:0002011	Morphological central nervous system abnormality	2009	EML1	OMIM:600348
HP:0002011	Morphological central nervous system abnormality	5395	PMS2	OMIM:619101
HP:0002011	Morphological central nervous system abnormality	120	ADD3	OMIM:617008
HP:0002011	Morphological central nervous system abnormality	7737	RNF113A	OMIM:300953
HP:0002011	Morphological central nervous system abnormality	51604	PIGT	ORPHA:369837
HP:0002011	Morphological central nervous system abnormality	9255	AIMP1	OMIM:260600
HP:0002011	Morphological central nervous system abnormality	8021	NUP214	OMIM:618426
HP:0002011	Morphological central nervous system abnormality	2521	FUS	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	23435	TARDBP	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	400916	CHCHD10	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	83475	DOHH	OMIM:620066
HP:0002011	Morphological central nervous system abnormality	23287	AGTPBP1	OMIM:618276
HP:0002011	Morphological central nervous system abnormality	790	CAD	OMIM:616457
HP:0002011	Morphological central nervous system abnormality	2782	GNB1	OMIM:616973
HP:0002011	Morphological central nervous system abnormality	8869	ST3GAL5	OMIM:609056
HP:0002011	Morphological central nervous system abnormality	79868	ALG13	ORPHA:324422
HP:0002011	Morphological central nervous system abnormality	1540	CYLD	OMIM:619132
HP:0002011	Morphological central nervous system abnormality	1315	COPB1	OMIM:619255
HP:0002011	Morphological central nervous system abnormality	10352	WARS2	OMIM:619738
HP:0002011	Morphological central nervous system abnormality	128989	TANGO2	ORPHA:480864
HP:0002011	Morphological central nervous system abnormality	1678	TIMM8A	ORPHA:52368
HP:0002011	Morphological central nervous system abnormality	6304	SATB1	OMIM:619229
HP:0002011	Morphological central nervous system abnormality	10695	CNPY3	OMIM:617929
HP:0002011	Morphological central nervous system abnormality	4796	TONSL	ORPHA:93357
HP:0002011	Morphological central nervous system abnormality	4796	TONSL	OMIM:271510
HP:0002011	Morphological central nervous system abnormality	5745	PTH1R	OMIM:600002
HP:0002011	Morphological central nervous system abnormality	126129	CPT1C	ORPHA:444099
HP:0002011	Morphological central nervous system abnormality	6683	SPAST	OMIM:182601
HP:0002011	Morphological central nervous system abnormality	2588	GALNS	OMIM:253000
HP:0002011	Morphological central nervous system abnormality	1280	COL2A1	OMIM:183900
HP:0002011	Morphological central nervous system abnormality	81788	NUAK2	OMIM:619452
HP:0002011	Morphological central nervous system abnormality	7066	THPO	ORPHA:71493
HP:0002011	Morphological central nervous system abnormality	2717	GLA	OMIM:301500
HP:0002011	Morphological central nervous system abnormality	2717	GLA	ORPHA:324
HP:0002011	Morphological central nervous system abnormality	811	CALR	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	1311	COMP	OMIM:177170
HP:0002011	Morphological central nervous system abnormality	6023	RMRP	OMIM:607095
HP:0002011	Morphological central nervous system abnormality	80217	CFAP43	OMIM:236690
HP:0002011	Morphological central nervous system abnormality	1890	TYMP	OMIM:603041
HP:0002011	Morphological central nervous system abnormality	1890	TYMP	ORPHA:298
HP:0002011	Morphological central nervous system abnormality	22934	RPIA	OMIM:608611
HP:0002011	Morphological central nervous system abnormality	644096	SDHAF1	OMIM:619166
HP:0002011	Morphological central nervous system abnormality	4780	NFE2L2	OMIM:617744
HP:0002011	Morphological central nervous system abnormality	1181	CLCN2	OMIM:615651
HP:0002011	Morphological central nervous system abnormality	2562	GABRB3	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	5602	MAPK10	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	6772	STAT1	ORPHA:391487
HP:0002011	Morphological central nervous system abnormality	10043	TOM1	ORPHA:391487
HP:0002011	Morphological central nervous system abnormality	8915	BCL10	OMIM:616098
HP:0002011	Morphological central nervous system abnormality	3930	LBR	ORPHA:779
HP:0002011	Morphological central nervous system abnormality	331	XIAP	OMIM:308240
HP:0002011	Morphological central nervous system abnormality	4068	SH2D1A	OMIM:308240
HP:0002011	Morphological central nervous system abnormality	340024	SLC6A19	ORPHA:2116
HP:0002011	Morphological central nervous system abnormality	57393	CLTRN	ORPHA:2116
HP:0002011	Morphological central nervous system abnormality	149233	IL23R	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	6775	STAT4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3586	IL10	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	4210	MEFV	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	1230	CCR1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	355	FAS	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3592	IL12A	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3106	HLA-B	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	7099	TLR4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3459	IFNGR1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	720	C4A	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	337867	UBAC2	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	51752	ERAP1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	8302	KLRC4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	8815	BANF1	OMIM:614008
HP:0002011	Morphological central nervous system abnormality	55969	RAB5IF	OMIM:616994
HP:0002011	Morphological central nervous system abnormality	7317	UBA1	OMIM:301830
HP:0002011	Morphological central nervous system abnormality	7317	UBA1	ORPHA:1145
HP:0002011	Morphological central nervous system abnormality	57562	CEP126	ORPHA:65684
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:253550
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:271150
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:253400
HP:0002011	Morphological central nervous system abnormality	10342	TFG	OMIM:604484
HP:0002011	Morphological central nervous system abnormality	6647	SOD1	OMIM:105400
HP:0002011	Morphological central nervous system abnormality	5630	PRPH	OMIM:105400
HP:0002011	Morphological central nervous system abnormality	1639	DCTN1	OMIM:105400
HP:0002011	Morphological central nervous system abnormality	4744	NEFH	OMIM:105400
HP:0002011	Morphological central nervous system abnormality	311	ANXA11	OMIM:617839
HP:0002011	Morphological central nervous system abnormality	3508	IGHMBP2	OMIM:604320
HP:0002011	Morphological central nervous system abnormality	6607	SMN2	OMIM:253400
HP:0002011	Morphological central nervous system abnormality	4511	MT-TC	OMIM:540000
HP:0002011	Morphological central nervous system abnormality	54344	DPM3	ORPHA:263494
HP:0002011	Morphological central nervous system abnormality	6786	STIM1	OMIM:185070
HP:0002011	Morphological central nervous system abnormality	23600	AMACR	ORPHA:79095
HP:0002011	Morphological central nervous system abnormality	3569	IL6	OMIM:108010
HP:0002011	Morphological central nervous system abnormality	91754	NEK9	ORPHA:64754
HP:0002011	Morphological central nervous system abnormality	9573	GDF3	ORPHA:2345
HP:0002011	Morphological central nervous system abnormality	4222	MEOX1	ORPHA:2345
HP:0002011	Morphological central nervous system abnormality	55521	TRIM36	OMIM:206500
HP:0002011	Morphological central nervous system abnormality	3735	KARS1	OMIM:619196
HP:0002011	Morphological central nervous system abnormality	5091	PC	OMIM:266150
HP:0002011	Morphological central nervous system abnormality	51501	HIKESHI	OMIM:616881
HP:0002011	Morphological central nervous system abnormality	81689	ISCA1	OMIM:617613
HP:0002011	Morphological central nervous system abnormality	64857	PLEKHG2	OMIM:616763
HP:0002011	Morphological central nervous system abnormality	6567	SLC16A2	OMIM:300523
HP:0002011	Morphological central nervous system abnormality	122961	ISCA2	OMIM:616370
HP:0002011	Morphological central nervous system abnormality	1910	EDNRB	OMIM:277580
HP:0002011	Morphological central nervous system abnormality	7284	TUFM	OMIM:610678
HP:0002011	Morphological central nervous system abnormality	56915	EXOSC5	OMIM:619576
HP:0002011	Morphological central nervous system abnormality	9725	TMEM63A	OMIM:618688
HP:0002011	Morphological central nervous system abnormality	3431	SP110	ORPHA:79124
HP:0002011	Morphological central nervous system abnormality	8789	FBP2	OMIM:619864
HP:0002011	Morphological central nervous system abnormality	18	ABAT	OMIM:613163
HP:0002011	Morphological central nervous system abnormality	388962	BOLA3	OMIM:614299
HP:0002011	Morphological central nervous system abnormality	3329	HSPD1	OMIM:612233
HP:0002011	Morphological central nervous system abnormality	84705	GTPBP3	ORPHA:444013
HP:0002011	Morphological central nervous system abnormality	728294	D2HGDH	OMIM:600721
HP:0002011	Morphological central nervous system abnormality	134701	RIPPLY2	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	10683	DLL3	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	3955	LFNG	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	145873	MESP2	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	1312	COMT	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	221037	JMJD1C	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	2812	GP1BB	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	6239	RREB1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	6899	TBX1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	7290	HIRA	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	9632	SEC24C	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	7353	UFD1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	421	ARVCF	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	29925	GMPPB	ORPHA:588
HP:0002011	Morphological central nervous system abnormality	2697	GJA1	ORPHA:1010
HP:0002011	Morphological central nervous system abnormality	80781	COL18A1	OMIM:267750
HP:0002011	Morphological central nervous system abnormality	7476	WNT7A	OMIM:276820
HP:0002011	Morphological central nervous system abnormality	4519	MT-CYB	ORPHA:137675
HP:0002011	Morphological central nervous system abnormality	64601	VPS16	OMIM:619291
HP:0002011	Morphological central nervous system abnormality	4990	SIX6	OMIM:206900
HP:0002011	Morphological central nervous system abnormality	6657	SOX2	OMIM:206900
HP:0002011	Morphological central nervous system abnormality	4123	MAN2C1	OMIM:619775
HP:0002011	Morphological central nervous system abnormality	7074	TIAM1	OMIM:619908
HP:0002011	Morphological central nervous system abnormality	5621	PRNP	ORPHA:282166
HP:0002011	Morphological central nervous system abnormality	25978	CHMP2B	OMIM:600795
HP:0002011	Morphological central nervous system abnormality	25978	CHMP2B	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	25978	CHMP2B	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	4137	MAPT	OMIM:601104
HP:0002011	Morphological central nervous system abnormality	4137	MAPT	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	4137	MAPT	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	23636	NUP62	ORPHA:225154
HP:0002011	Morphological central nervous system abnormality	103	ADAR	ORPHA:225154
HP:0002011	Morphological central nervous system abnormality	5663	PSEN1	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	5663	PSEN1	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	2896	GRN	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	2896	GRN	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	54664	TMEM106B	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	54664	TMEM106B	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	8878	SQSTM1	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	54209	TREM2	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	54209	TREM2	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	7415	VCP	ORPHA:275864
HP:0002011	Morphological central nervous system abnormality	7415	VCP	ORPHA:100070
HP:0002011	Morphological central nervous system abnormality	5428	POLG	OMIM:203700
HP:0002011	Morphological central nervous system abnormality	3908	LAMA2	ORPHA:258
HP:0002011	Morphological central nervous system abnormality	7248	TSC1	OMIM:607341
HP:0002011	Morphological central nervous system abnormality	7249	TSC2	OMIM:607341
HP:0002011	Morphological central nervous system abnormality	1593	CYP27A1	ORPHA:909
HP:0002011	Morphological central nervous system abnormality	3785	KCNQ2	ORPHA:439218
HP:0002011	Morphological central nervous system abnormality	5430	POLR2A	OMIM:618603
HP:0002011	Morphological central nervous system abnormality	4594	MMUT	OMIM:251000
HP:0002011	Morphological central nervous system abnormality	113612	CYP2U1	ORPHA:320411
HP:0002011	Morphological central nervous system abnormality	55532	SLC30A10	ORPHA:309854
HP:0002011	Morphological central nervous system abnormality	3417	IDH1	ORPHA:99646
HP:0002011	Morphological central nervous system abnormality	11152	WDR45	OMIM:300894
HP:0002011	Morphological central nervous system abnormality	2512	FTL	ORPHA:157846
HP:0002011	Morphological central nervous system abnormality	83636	C19orf12	OMIM:614298
HP:0002011	Morphological central nervous system abnormality	80025	PANK2	ORPHA:216866
HP:0002011	Morphological central nervous system abnormality	80025	PANK2	OMIM:607236
HP:0002011	Morphological central nervous system abnormality	80025	PANK2	OMIM:234200
HP:0002011	Morphological central nervous system abnormality	318	NUDT2	OMIM:619844
HP:0002011	Morphological central nervous system abnormality	8398	PLA2G6	ORPHA:35069
HP:0002011	Morphological central nervous system abnormality	1737	DLAT	ORPHA:79244
HP:0002011	Morphological central nervous system abnormality	1161	ERCC8	ORPHA:90324
HP:0002011	Morphological central nervous system abnormality	2074	ERCC6	ORPHA:90324
HP:0002011	Morphological central nervous system abnormality	727676	SNORD118	ORPHA:542310
HP:0002011	Morphological central nervous system abnormality	55835	CENPJ	OMIM:608393
HP:0002011	Morphological central nervous system abnormality	259266	ASPM	OMIM:608716
HP:0002011	Morphological central nervous system abnormality	8621	CDK13	OMIM:617360
HP:0002011	Morphological central nervous system abnormality	55755	CDK5RAP2	OMIM:604804
HP:0002011	Morphological central nervous system abnormality	6925	TCF4	ORPHA:2896
HP:0002011	Morphological central nervous system abnormality	79648	MCPH1	OMIM:251200
HP:0002011	Morphological central nervous system abnormality	63925	ZNF335	ORPHA:329228
HP:0002011	Morphological central nervous system abnormality	7547	ZIC3	OMIM:306955
HP:0002011	Morphological central nervous system abnormality	64840	PORCN	OMIM:305600
HP:0002011	Morphological central nervous system abnormality	341640	FREM2	ORPHA:2052
HP:0002011	Morphological central nervous system abnormality	80144	FRAS1	ORPHA:2052
HP:0002011	Morphological central nervous system abnormality	80144	FRAS1	OMIM:219000
HP:0002011	Morphological central nervous system abnormality	23426	GRIP1	ORPHA:2052
HP:0002011	Morphological central nervous system abnormality	5077	PAX3	OMIM:193500
HP:0002011	Morphological central nervous system abnormality	4488	MSX2	ORPHA:60015
HP:0002011	Morphological central nervous system abnormality	60529	ALX4	ORPHA:60015
HP:0002011	Morphological central nervous system abnormality	168667	BMPER	ORPHA:66637
HP:0002011	Morphological central nervous system abnormality	57216	VANGL2	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	6347	CCL2	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	81839	VANGL1	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	81839	VANGL1	OMIM:600145
HP:0002011	Morphological central nervous system abnormality	6862	TBXT	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	80199	FUZ	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	80199	FUZ	ORPHA:1136
HP:0002011	Morphological central nervous system abnormality	10093	ARPC4	OMIM:620141
HP:0002011	Morphological central nervous system abnormality	25942	SIN3A	ORPHA:94065
HP:0002011	Morphological central nervous system abnormality	6628	SNRPB	ORPHA:1393
HP:0002011	Morphological central nervous system abnormality	84667	HES7	OMIM:613686
HP:0002011	Morphological central nervous system abnormality	51339	DACT1	ORPHA:63260
HP:0002011	Morphological central nervous system abnormality	2737	GLI3	ORPHA:93322
HP:0002011	Morphological central nervous system abnormality	3481	IGF2	ORPHA:2128
HP:0002011	Morphological central nervous system abnormality	10984	KCNQ1OT1	ORPHA:2128
HP:0002011	Morphological central nervous system abnormality	283120	H19	ORPHA:2128
HP:0002011	Morphological central nervous system abnormality	6309	SC5D	OMIM:607330
HP:0002011	Morphological central nervous system abnormality	4702	NDUFA8	OMIM:619272
HP:0002011	Morphological central nervous system abnormality	10128	LRPPRC	OMIM:220111
HP:0002011	Morphological central nervous system abnormality	10128	LRPPRC	ORPHA:70472
HP:0002011	Morphological central nervous system abnormality	9997	SCO2	OMIM:604377
HP:0002011	Morphological central nervous system abnormality	9997	SCO2	ORPHA:70474
HP:0002011	Morphological central nervous system abnormality	4558	MT-TF	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4572	MT-TQ	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4512	MT-CO1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4513	MT-CO2	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4514	MT-CO3	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4578	MT-TW	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4578	MT-TW	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4540	MT-ND5	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4540	MT-ND5	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4541	MT-ND6	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4541	MT-ND6	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4535	MT-ND1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4535	MT-ND1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4535	MT-ND1	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4538	MT-ND4	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4538	MT-ND4	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4567	MT-TL1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4567	MT-TL1	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4574	MT-TS1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4574	MT-TS1	OMIM:220110
HP:0002011	Morphological central nervous system abnormality	4575	MT-TS2	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4564	MT-TH	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	54539	NDUFB11	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	25915	NDUFAF3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	25915	NDUFAF3	ORPHA:70474
HP:0002011	Morphological central nervous system abnormality	25915	NDUFAF3	OMIM:618240
HP:0002011	Morphological central nervous system abnormality	51103	NDUFAF1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	91942	NDUFAF2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	91942	NDUFAF2	OMIM:618233
HP:0002011	Morphological central nervous system abnormality	91942	NDUFAF2	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	51300	TIMMDC1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4716	NDUFB10	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4723	NDUFV1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4723	NDUFV1	OMIM:618225
HP:0002011	Morphological central nervous system abnormality	4723	NDUFV1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	55572	FOXRED1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	55572	FOXRED1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	284184	NDUFAF8	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	55863	TMEM126B	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4537	MT-ND3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4537	MT-ND3	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4729	NDUFV2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4729	NDUFV2	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4694	NDUFA1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4720	NDUFS2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4720	NDUFS2	ORPHA:70474
HP:0002011	Morphological central nervous system abnormality	4720	NDUFS2	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4724	NDUFS4	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4724	NDUFS4	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4724	NDUFS4	OMIM:252010
HP:0002011	Morphological central nervous system abnormality	4726	NDUFS6	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4728	NDUFS8	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4728	NDUFS8	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4722	NDUFS3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4722	NDUFS3	OMIM:618230
HP:0002011	Morphological central nervous system abnormality	4722	NDUFS3	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	79133	NDUFAF5	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	79133	NDUFAF5	OMIM:618238
HP:0002011	Morphological central nervous system abnormality	79133	NDUFAF5	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	126328	NDUFA11	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4709	NDUFB3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	80224	NUBPL	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	80224	NUBPL	OMIM:618242
HP:0002011	Morphological central nervous system abnormality	29078	NDUFAF4	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	374291	NDUFS7	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	374291	NDUFS7	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4700	NDUFA6	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4700	NDUFA6	OMIM:618253
HP:0002011	Morphological central nervous system abnormality	4536	MT-ND2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4536	MT-ND2	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4719	NDUFS1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4719	NDUFS1	OMIM:618226
HP:0002011	Morphological central nervous system abnormality	4719	NDUFS1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4715	NDUFB9	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	57128	LYRM4	OMIM:615595
HP:0002011	Morphological central nervous system abnormality	4570	MT-TN	OMIM:220110
HP:0002011	Morphological central nervous system abnormality	6834	SURF1	OMIM:220110
HP:0002011	Morphological central nervous system abnormality	6834	SURF1	ORPHA:70474
HP:0002011	Morphological central nervous system abnormality	6834	SURF1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	64849	SLC13A3	OMIM:618384
HP:0002011	Morphological central nervous system abnormality	92609	TIMM50	OMIM:617698
HP:0002011	Morphological central nervous system abnormality	10059	DNM1L	OMIM:614388
HP:0002011	Morphological central nervous system abnormality	6513	SLC2A1	OMIM:612126
HP:0002011	Morphological central nervous system abnormality	85476	GFM1	OMIM:609060
HP:0002011	Morphological central nervous system abnormality	4191	MDH2	OMIM:617339
HP:0002011	Morphological central nervous system abnormality	84334	COA8	ORPHA:436271
HP:0002011	Morphological central nervous system abnormality	90624	LYRM7	OMIM:615838
HP:0002011	Morphological central nervous system abnormality	123263	MTFMT	OMIM:614947
HP:0002011	Morphological central nervous system abnormality	123263	MTFMT	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	8659	ALDH4A1	ORPHA:79101
HP:0002011	Morphological central nervous system abnormality	10667	FARS2	OMIM:614946
HP:0002011	Morphological central nervous system abnormality	8050	PDHX	ORPHA:255182
HP:0002011	Morphological central nervous system abnormality	4714	NDUFB8	ORPHA:70474
HP:0002011	Morphological central nervous system abnormality	4714	NDUFB8	OMIM:618252
HP:0002011	Morphological central nervous system abnormality	4577	MT-TV	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4508	MT-ATP6	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4566	MT-TK	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	51112	TRAPPC12	ORPHA:500144
HP:0002011	Morphological central nervous system abnormality	128240	NAXE	OMIM:617186
HP:0002011	Morphological central nervous system abnormality	291	SLC25A4	OMIM:617184
HP:0002011	Morphological central nervous system abnormality	291	SLC25A4	OMIM:615418
HP:0002011	Morphological central nervous system abnormality	65993	MRPS34	OMIM:617664
HP:0002011	Morphological central nervous system abnormality	25828	TXN2	ORPHA:478029
HP:0002011	Morphological central nervous system abnormality	25828	TXN2	OMIM:616811
HP:0002011	Morphological central nervous system abnormality	5160	PDHA1	OMIM:312170
HP:0002011	Morphological central nervous system abnormality	5160	PDHA1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	5160	PDHA1	ORPHA:79243
HP:0002011	Morphological central nervous system abnormality	56997	COQ8A	ORPHA:139485
HP:0002011	Morphological central nervous system abnormality	56997	COQ8A	OMIM:612016
HP:0002011	Morphological central nervous system abnormality	1352	COX10	OMIM:619046
HP:0002011	Morphological central nervous system abnormality	84340	GFM2	OMIM:618397
HP:0002011	Morphological central nervous system abnormality	84340	GFM2	ORPHA:565624
HP:0002011	Morphological central nervous system abnormality	54931	TRMT10C	OMIM:616974
HP:0002011	Morphological central nervous system abnormality	539	ATP5PO	OMIM:620359
HP:0002011	Morphological central nervous system abnormality	57038	RARS2	OMIM:611523
HP:0002011	Morphological central nervous system abnormality	4204	MECP2	ORPHA:778
HP:0002011	Morphological central nervous system abnormality	87178	PNPT1	ORPHA:319514
HP:0002011	Morphological central nervous system abnormality	87178	PNPT1	OMIM:614932
HP:0002011	Morphological central nervous system abnormality	1340	COX6B1	OMIM:619051
HP:0002011	Morphological central nervous system abnormality	6389	SDHA	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	80704	SLC19A3	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	55967	NDUFA12	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	55967	NDUFA12	OMIM:618244
HP:0002011	Morphological central nervous system abnormality	51204	TACO1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	137682	NDUFAF6	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	1355	COX15	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	1892	ECHS1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	1892	ECHS1	OMIM:616277
HP:0002011	Morphological central nervous system abnormality	51079	NDUFA13	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4705	NDUFA10	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4705	NDUFA10	OMIM:618243
HP:0002011	Morphological central nervous system abnormality	51601	LIPT1	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4695	NDUFA2	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4697	NDUFA4	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	4697	NDUFA4	OMIM:619065
HP:0002011	Morphological central nervous system abnormality	4704	NDUFA9	ORPHA:255241
HP:0002011	Morphological central nervous system abnormality	84987	COX14	OMIM:619053
HP:0002011	Morphological central nervous system abnormality	1351	COX8A	OMIM:619059
HP:0002011	Morphological central nervous system abnormality	4358	MPV17	OMIM:618400
HP:0002011	Morphological central nervous system abnormality	200205	IBA57	OMIM:615330
HP:0002011	Morphological central nervous system abnormality	60386	SLC25A19	OMIM:613710
HP:0002011	Morphological central nervous system abnormality	55157	DARS2	ORPHA:137898
HP:0002011	Morphological central nervous system abnormality	55005	RMND1	OMIM:614922
HP:0002011	Morphological central nervous system abnormality	9361	LONP1	ORPHA:79243
HP:0002011	Morphological central nervous system abnormality	91647	ATPAF2	OMIM:604273
HP:0002011	Morphological central nervous system abnormality	8802	SUCLG1	OMIM:245400
HP:0002011	Morphological central nervous system abnormality	8802	SUCLG1	ORPHA:17
HP:0002011	Morphological central nervous system abnormality	100303755	PET117	OMIM:619063
HP:0002011	Morphological central nervous system abnormality	27247	NFU1	OMIM:605711
HP:0002011	Morphological central nervous system abnormality	1327	COX4I1	OMIM:619060
HP:0002011	Morphological central nervous system abnormality	84842	HPDL	OMIM:619026
HP:0002011	Morphological central nervous system abnormality	81570	CLPB	OMIM:616271
HP:0002011	Morphological central nervous system abnormality	8803	SUCLA2	OMIM:612073
HP:0002011	Morphological central nervous system abnormality	790955	UQCC3	OMIM:616111
HP:0002011	Morphological central nervous system abnormality	133686	NADK2	OMIM:616034
HP:0002011	Morphological central nervous system abnormality	50484	RRM2B	OMIM:612075
HP:0002011	Morphological central nervous system abnormality	27429	HTRA2	OMIM:617248
HP:0002011	Morphological central nervous system abnormality	84300	UQCC2	OMIM:615824
HP:0002011	Morphological central nervous system abnormality	79731	NARS2	OMIM:616239
HP:0002011	Morphological central nervous system abnormality	27010	TPK1	OMIM:614458
HP:0002011	Morphological central nervous system abnormality	3028	HSD17B10	ORPHA:391428
HP:0002011	Morphological central nervous system abnormality	5888	RAD51	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	10126	DNAL4	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	9423	NTN1	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	1630	DCC	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	2581	GALC	ORPHA:206448
HP:0002011	Morphological central nervous system abnormality	57679	ALS2	OMIM:607225
HP:0002011	Morphological central nervous system abnormality	6182	MRPL12	OMIM:618951
HP:0002011	Morphological central nervous system abnormality	57731	SPTBN4	OMIM:617519
HP:0002011	Morphological central nervous system abnormality	7384	UQCRC1	OMIM:619279
HP:0002011	Morphological central nervous system abnormality	51473	DCDC2	ORPHA:84081
HP:0002011	Morphological central nervous system abnormality	8671	SLC4A4	OMIM:604278
HP:0002011	Morphological central nervous system abnormality	3394	IRF8	OMIM:226990
HP:0002011	Morphological central nervous system abnormality	3117	HLA-DQA1	OMIM:212750
HP:0002011	Morphological central nervous system abnormality	4256	MGP	OMIM:245150
HP:0002011	Morphological central nervous system abnormality	9365	KL	OMIM:617994
HP:0002011	Morphological central nervous system abnormality	5741	PTH	OMIM:146200
HP:0002011	Morphological central nervous system abnormality	56160	NSMCE3	OMIM:617241
HP:0002011	Morphological central nervous system abnormality	79650	USB1	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	55135	WRAP53	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	4869	NPM1	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	1188	CLCNKB	ORPHA:358
HP:0002011	Morphological central nervous system abnormality	6559	SLC12A3	ORPHA:358
HP:0002011	Morphological central nervous system abnormality	79783	SUGCT	ORPHA:35706
HP:0002011	Morphological central nervous system abnormality	51008	ASCC1	OMIM:616867
HP:0002011	Morphological central nervous system abnormality	4913	NTHL1	ORPHA:454840
HP:0002011	Morphological central nervous system abnormality	4913	NTHL1	OMIM:616415
HP:0002011	Morphological central nervous system abnormality	8930	MBD4	OMIM:619975
HP:0002011	Morphological central nervous system abnormality	7486	WRN	ORPHA:902
HP:0002011	Morphological central nervous system abnormality	7486	WRN	OMIM:277700
HP:0002011	Morphological central nervous system abnormality	4000	LMNA	ORPHA:79474
HP:0002011	Morphological central nervous system abnormality	4330	MN1	OMIM:607174
HP:0002011	Morphological central nervous system abnormality	23405	DICER1	OMIM:601200
HP:0002011	Morphological central nervous system abnormality	8518	ELP1	OMIM:155255
HP:0002011	Morphological central nervous system abnormality	2064	ERBB2	OMIM:137800
HP:0002011	Morphological central nervous system abnormality	4193	MDM2	ORPHA:524
HP:0002011	Morphological central nervous system abnormality	5566	PRKACA	ORPHA:189439
HP:0002011	Morphological central nervous system abnormality	4072	EPCAM	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	27030	MLH3	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	22909	FAN1	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	2956	MSH6	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	5378	PMS1	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	4436	MSH2	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	64218	SEMA4A	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	657	BMPR1A	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	79798	ARMC5	ORPHA:189427
HP:0002011	Morphological central nervous system abnormality	9101	USP8	OMIM:219090
HP:0002011	Morphological central nervous system abnormality	3418	IDH2	ORPHA:163634
HP:0002011	Morphological central nervous system abnormality	6843	VAMP1	ORPHA:251282
HP:0002011	Morphological central nervous system abnormality	5264	PHYH	OMIM:266500
HP:0002011	Morphological central nervous system abnormality	966	CD59	OMIM:612300
HP:0002011	Morphological central nervous system abnormality	2632	GBE1	OMIM:263570
HP:0002011	Morphological central nervous system abnormality	587	BCAT2	OMIM:618850
HP:0002011	Morphological central nervous system abnormality	4359	MPZ	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	4359	MPZ	ORPHA:101082
HP:0002011	Morphological central nervous system abnormality	5376	PMP22	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	1959	EGR2	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	57716	PRX	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	56244	BTNL2	ORPHA:797
HP:0002011	Morphological central nervous system abnormality	83483	PLVAP	OMIM:618183
HP:0002011	Morphological central nervous system abnormality	51081	MRPS7	OMIM:617872
HP:0002011	Morphological central nervous system abnormality	405753	DUOXA2	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	6528	SLC5A5	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	7038	TG	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	7173	TPO	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	389434	IYD	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	50506	DUOX2	ORPHA:95716
HP:0002011	Morphological central nervous system abnormality	50506	DUOX2	ORPHA:226316
HP:0002011	Morphological central nervous system abnormality	7068	THRB	OMIM:145650
HP:0002011	Morphological central nervous system abnormality	7068	THRB	OMIM:274300
HP:0002011	Morphological central nervous system abnormality	7849	PAX8	OMIM:218700
HP:0002011	Morphological central nervous system abnormality	79048	SECISBP2	ORPHA:171706
HP:0002011	Morphological central nervous system abnormality	79048	SECISBP2	OMIM:609698
HP:0002011	Morphological central nervous system abnormality	169792	GLIS3	OMIM:610199
HP:0002011	Morphological central nervous system abnormality	7253	TSHR	OMIM:275200
HP:0002011	Morphological central nervous system abnormality	7253	TSHR	ORPHA:90673
HP:0002011	Morphological central nervous system abnormality	55186	SLC25A36	OMIM:620211
HP:0002011	Morphological central nervous system abnormality	861	RUNX1	OMIM:601399
HP:0002011	Morphological central nervous system abnormality	429	ASCL1	ORPHA:99803
HP:0002011	Morphological central nervous system abnormality	256646	NUTM1	ORPHA:443167
HP:0002011	Morphological central nervous system abnormality	246243	RNASEH1	ORPHA:329336
HP:0002011	Morphological central nervous system abnormality	3730	ANOS1	OMIM:308700
HP:0002011	Morphological central nervous system abnormality	3730	ANOS1	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	79625	NDNF	OMIM:618841
HP:0002011	Morphological central nervous system abnormality	79625	NDNF	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	81848	SPRY4	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	23767	FLRT3	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	128674	PROKR2	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	389549	FEZF1	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	54756	IL17RD	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	285025	CCDC141	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	60675	PROK2	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	1848	DUSP6	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	6870	TACR3	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	55717	WDR11	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	9394	HS6ST1	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	8822	FGF17	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	9158	FIBP	ORPHA:500095
HP:0002011	Morphological central nervous system abnormality	5781	PTPN11	ORPHA:500
HP:0002011	Morphological central nervous system abnormality	5781	PTPN11	OMIM:151100
HP:0002011	Morphological central nervous system abnormality	5894	RAF1	ORPHA:500
HP:0002011	Morphological central nervous system abnormality	3664	IRF6	OMIM:119500
HP:0002011	Morphological central nervous system abnormality	10584	COLEC10	ORPHA:293843
HP:0002011	Morphological central nervous system abnormality	78989	COLEC11	ORPHA:293843
HP:0002011	Morphological central nervous system abnormality	6885	MAP3K7	ORPHA:1826
HP:0002011	Morphological central nervous system abnormality	3166	HMX1	OMIM:612109
HP:0002011	Morphological central nervous system abnormality	4921	DDR2	OMIM:271665
HP:0002011	Morphological central nervous system abnormality	2294	FOXF1	OMIM:265380
HP:0002011	Morphological central nervous system abnormality	3590	IL11RA	OMIM:614188
HP:0002011	Morphological central nervous system abnormality	23259	DDHD2	OMIM:615033
HP:0002011	Morphological central nervous system abnormality	23028	KDM1A	OMIM:616728
HP:0002011	Morphological central nervous system abnormality	25839	COG4	OMIM:618150
HP:0002011	Morphological central nervous system abnormality	10743	RAI1	ORPHA:477817
HP:0002011	Morphological central nervous system abnormality	1387	CREBBP	ORPHA:353281
HP:0002011	Morphological central nervous system abnormality	1387	CREBBP	ORPHA:353277
HP:0002011	Morphological central nervous system abnormality	92002	CCNQ	ORPHA:140952
HP:0002011	Morphological central nervous system abnormality	2033	EP300	ORPHA:353284
HP:0002011	Morphological central nervous system abnormality	19	ABCA1	ORPHA:31150
HP:0002011	Morphological central nervous system abnormality	2192	FBLN1	ORPHA:404451
HP:0002011	Morphological central nervous system abnormality	3190	HNRNPK	OMIM:616580
HP:0002011	Morphological central nervous system abnormality	22943	DKK1	ORPHA:268882
HP:0002011	Morphological central nervous system abnormality	9939	RBM8A	OMIM:274000
HP:0002011	Morphological central nervous system abnormality	2131	EXT1	ORPHA:321
HP:0002011	Morphological central nervous system abnormality	2132	EXT2	ORPHA:321
HP:0002011	Morphological central nervous system abnormality	8091	HMGA2	ORPHA:94063
HP:0002011	Morphological central nervous system abnormality	23592	LEMD3	ORPHA:94063
HP:0002011	Morphological central nervous system abnormality	860	RUNX2	OMIM:119600
HP:0002011	Morphological central nervous system abnormality	29072	SETD2	OMIM:616831
HP:0002011	Morphological central nervous system abnormality	4853	NOTCH2	ORPHA:955
HP:0002011	Morphological central nervous system abnormality	6911	TBX6	OMIM:122600
HP:0002011	Morphological central nervous system abnormality	5010	CLDN11	OMIM:619328
HP:0002011	Morphological central nervous system abnormality	1650	DDOST	ORPHA:300536
HP:0002011	Morphological central nervous system abnormality	64834	ELOVL1	OMIM:618527
HP:0002011	Morphological central nervous system abnormality	54332	GDAP1	OMIM:214400
HP:0002011	Morphological central nervous system abnormality	2643	GCH1	ORPHA:98808
HP:0002011	Morphological central nervous system abnormality	4929	NR4A2	ORPHA:98808
HP:0002011	Morphological central nervous system abnormality	4929	NR4A2	OMIM:619911
HP:0002011	Morphological central nervous system abnormality	3615	IMPDH2	ORPHA:98808
HP:0002011	Morphological central nervous system abnormality	7054	TH	OMIM:605407
HP:0002011	Morphological central nervous system abnormality	7054	TH	ORPHA:101150
HP:0002011	Morphological central nervous system abnormality	55163	PNPO	ORPHA:79096
HP:0002011	Morphological central nervous system abnormality	55163	PNPO	OMIM:610090
HP:0002011	Morphological central nervous system abnormality	5805	PTS	OMIM:261640
HP:0002011	Morphological central nervous system abnormality	1644	DDC	OMIM:608643
HP:0002011	Morphological central nervous system abnormality	9256	TSPOAP1	ORPHA:101150
HP:0002011	Morphological central nervous system abnormality	257	ALX3	OMIM:136760
HP:0002011	Morphological central nervous system abnormality	257	ALX3	ORPHA:391474
HP:0002011	Morphological central nervous system abnormality	8092	ALX1	ORPHA:306542
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:98794
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:98795
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:411511
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:411515
HP:0002011	Morphological central nervous system abnormality	4948	OCA2	ORPHA:98794
HP:0002011	Morphological central nervous system abnormality	9373	PLAA	OMIM:617527
HP:0002011	Morphological central nervous system abnormality	6638	SNRPN	ORPHA:411515
HP:0002011	Morphological central nervous system abnormality	57194	ATP10A	ORPHA:411515
HP:0002011	Morphological central nervous system abnormality	1289	COL5A1	OMIM:619329
HP:0002011	Morphological central nervous system abnormality	5589	PRKCSH	OMIM:174050
HP:0002011	Morphological central nervous system abnormality	1277	COL1A1	ORPHA:287
HP:0002011	Morphological central nervous system abnormality	1290	COL5A2	ORPHA:287
HP:0002011	Morphological central nervous system abnormality	4860	PNP	OMIM:613179
HP:0002011	Morphological central nervous system abnormality	81704	DOCK8	OMIM:243700
HP:0002011	Morphological central nervous system abnormality	10621	POLR3F	OMIM:619872
HP:0002011	Morphological central nervous system abnormality	1301	COL11A1	OMIM:154780
HP:0002011	Morphological central nervous system abnormality	6571	SLC18A2	ORPHA:352649
HP:0002011	Morphological central nervous system abnormality	22854	NTNG1	ORPHA:3095
HP:0002011	Morphological central nervous system abnormality	55858	TMEM165	OMIM:614727
HP:0002011	Morphological central nervous system abnormality	10087	CERT1	OMIM:616351
HP:0002011	Morphological central nervous system abnormality	8929	PHOX2B	OMIM:613013
HP:0002011	Morphological central nervous system abnormality	8929	PHOX2B	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	8929	PHOX2B	ORPHA:2151
HP:0002011	Morphological central nervous system abnormality	8929	PHOX2B	OMIM:209880
HP:0002011	Morphological central nervous system abnormality	2668	GDNF	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	283446	MYO1H	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	6904	TBCD	ORPHA:496641
HP:0002011	Morphological central nervous system abnormality	10134	BCAP31	OMIM:300475
HP:0002011	Morphological central nervous system abnormality	10134	BCAP31	ORPHA:369939
HP:0002011	Morphological central nervous system abnormality	158	ADSL	OMIM:103050
HP:0002011	Morphological central nervous system abnormality	84992	PIGY	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	84720	PIGO	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	93210	PGAP3	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	284098	PIGW	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	27315	PGAP2	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	55650	PIGV	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	9487	PIGL	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	10588	MTHFS	OMIM:618367
HP:0002011	Morphological central nervous system abnormality	55823	VPS11	OMIM:616683
HP:0002011	Morphological central nervous system abnormality	160418	TMTC3	OMIM:617255
HP:0002011	Morphological central nervous system abnormality	84668	HYCC1	ORPHA:85163
HP:0002011	Morphological central nervous system abnormality	6509	SLC1A4	ORPHA:447997
HP:0002011	Morphological central nervous system abnormality	1528	CYB5A	ORPHA:621
HP:0002011	Morphological central nervous system abnormality	1727	CYB5R3	ORPHA:621
HP:0002011	Morphological central nervous system abnormality	8604	SLC25A12	OMIM:612949
HP:0002011	Morphological central nervous system abnormality	85365	ALG2	ORPHA:79326
HP:0002011	Morphological central nervous system abnormality	1967	EIF2B1	OMIM:603896
HP:0002011	Morphological central nervous system abnormality	57165	GJC2	OMIM:608804
HP:0002011	Morphological central nervous system abnormality	80232	WDR26	ORPHA:513456
HP:0002011	Morphological central nervous system abnormality	5917	RARS1	ORPHA:438114
HP:0002011	Morphological central nervous system abnormality	6663	SOX10	OMIM:611584
HP:0002011	Morphological central nervous system abnormality	10382	TUBB4A	OMIM:612438
HP:0002011	Morphological central nervous system abnormality	4668	NAGA	OMIM:609242
HP:0002011	Morphological central nervous system abnormality	4281	MID1	ORPHA:2745
HP:0002011	Morphological central nervous system abnormality	4983	OPHN1	ORPHA:137831
HP:0002011	Morphological central nervous system abnormality	95	ACY1	ORPHA:137754
HP:0002011	Morphological central nervous system abnormality	1778	DYNC1H1	OMIM:614563
HP:0002011	Morphological central nervous system abnormality	23229	ARHGEF9	OMIM:300607
HP:0002011	Morphological central nervous system abnormality	8496	PPFIBP1	OMIM:620024
HP:0002011	Morphological central nervous system abnormality	1130	LYST	ORPHA:167
HP:0002011	Morphological central nervous system abnormality	6687	SPG7	ORPHA:35689
HP:0002011	Morphological central nervous system abnormality	5611	DNAJC3	ORPHA:445062
HP:0002011	Morphological central nervous system abnormality	10908	PNPLA6	ORPHA:139480
HP:0002011	Morphological central nervous system abnormality	10908	PNPLA6	OMIM:612020
HP:0002011	Morphological central nervous system abnormality	215	ABCD1	ORPHA:139399
HP:0002011	Morphological central nervous system abnormality	9420	CYP7B1	ORPHA:100986
HP:0002011	Morphological central nervous system abnormality	22948	CCT5	OMIM:256840
HP:0002011	Morphological central nervous system abnormality	80208	SPG11	ORPHA:2822
HP:0002011	Morphological central nervous system abnormality	22880	MORC2	ORPHA:466768
HP:0002011	Morphological central nervous system abnormality	25974	MMACHC	ORPHA:79282
HP:0002011	Morphological central nervous system abnormality	5832	ALDH18A1	ORPHA:447757
HP:0002011	Morphological central nervous system abnormality	4001	LMNB1	ORPHA:99027
HP:0002011	Morphological central nervous system abnormality	283989	TSEN54	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	116461	TSEN15	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	79042	TSEN34	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	80746	TSEN2	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	51091	SEPSECS	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	7443	VRK1	OMIM:607596
HP:0002011	Morphological central nervous system abnormality	339453	TMEM240	ORPHA:98773
HP:0002011	Morphological central nervous system abnormality	8450	CUL4B	OMIM:300354
HP:0002011	Morphological central nervous system abnormality	55703	POLR3B	OMIM:614381
HP:0002011	Morphological central nervous system abnormality	375	ARF1	OMIM:618185
HP:0002011	Morphological central nervous system abnormality	94005	PIGS	OMIM:618143
HP:0002011	Morphological central nervous system abnormality	2895	GRID2	OMIM:616204
HP:0002011	Morphological central nervous system abnormality	2895	GRID2	ORPHA:363432
HP:0002011	Morphological central nervous system abnormality	64116	SLC39A8	OMIM:616721
HP:0002011	Morphological central nervous system abnormality	9698	PUM1	OMIM:617931
HP:0002011	Morphological central nervous system abnormality	4311	MME	OMIM:617018
HP:0002011	Morphological central nervous system abnormality	4311	MME	ORPHA:497764
HP:0002011	Morphological central nervous system abnormality	23533	PIK3R5	ORPHA:64753
HP:0002011	Morphological central nervous system abnormality	23064	SETX	ORPHA:64753
HP:0002011	Morphological central nervous system abnormality	9254	CACNA2D2	OMIM:618501
HP:0002011	Morphological central nervous system abnormality	255928	SYT14	OMIM:614229
HP:0002011	Morphological central nervous system abnormality	55775	TDP1	ORPHA:94124
HP:0002011	Morphological central nervous system abnormality	60481	ELOVL5	OMIM:615957
HP:0002011	Morphological central nervous system abnormality	5582	PRKCG	ORPHA:98763
HP:0002011	Morphological central nervous system abnormality	3708	ITPR1	ORPHA:208513
HP:0002011	Morphological central nervous system abnormality	3708	ITPR1	OMIM:117360
HP:0002011	Morphological central nervous system abnormality	773	CACNA1A	OMIM:108500
HP:0002011	Morphological central nervous system abnormality	773	CACNA1A	ORPHA:97
HP:0002011	Morphological central nervous system abnormality	724066	ATXN8	ORPHA:98760
HP:0002011	Morphological central nervous system abnormality	6315	ATXN8OS	ORPHA:98760
HP:0002011	Morphological central nervous system abnormality	6548	SLC9A1	OMIM:616291
HP:0002011	Morphological central nervous system abnormality	203068	TUBB	OMIM:156610
HP:0002011	Morphological central nervous system abnormality	7222	TRPC3	OMIM:616410
HP:0002011	Morphological central nervous system abnormality	7222	TRPC3	ORPHA:458798
HP:0002011	Morphological central nervous system abnormality	5859	QARS1	OMIM:615760
HP:0002011	Morphological central nervous system abnormality	53335	BCL11A	OMIM:617101
HP:0002011	Morphological central nervous system abnormality	1742	DLG4	OMIM:618793
HP:0002011	Morphological central nervous system abnormality	4010	LMX1B	ORPHA:495818
HP:0002011	Morphological central nervous system abnormality	6812	STXBP1	ORPHA:495818
HP:0002011	Morphological central nervous system abnormality	54676	GTPBP2	OMIM:617988
HP:0002011	Morphological central nervous system abnormality	11261	CHP1	OMIM:618438
HP:0002011	Morphological central nervous system abnormality	4884	NPTX1	OMIM:620158
HP:0002011	Morphological central nervous system abnormality	1600	DAB1	ORPHA:363710
HP:0002011	Morphological central nervous system abnormality	3064	HTT	ORPHA:248111
HP:0002011	Morphological central nervous system abnormality	3064	HTT	OMIM:617435
HP:0002011	Morphological central nervous system abnormality	8913	CACNA1G	ORPHA:458803
HP:0002011	Morphological central nervous system abnormality	8913	CACNA1G	OMIM:618087
HP:0002011	Morphological central nervous system abnormality	116228	COX20	OMIM:619054
HP:0002011	Morphological central nervous system abnormality	7518	XRCC4	OMIM:616541
HP:0002011	Morphological central nervous system abnormality	23203	PMPCA	OMIM:213200
HP:0002011	Morphological central nervous system abnormality	23203	PMPCA	ORPHA:1170
HP:0002011	Morphological central nervous system abnormality	57410	SCYL1	ORPHA:466794
HP:0002011	Morphological central nervous system abnormality	57410	SCYL1	OMIM:616719
HP:0002011	Morphological central nervous system abnormality	54936	ADPRS	OMIM:618170
HP:0002011	Morphological central nervous system abnormality	27072	VPS41	OMIM:619389
HP:0002011	Morphological central nervous system abnormality	79152	FA2H	ORPHA:329308
HP:0002011	Morphological central nervous system abnormality	84188	FAR1	OMIM:616154
HP:0002011	Morphological central nervous system abnormality	547	KIF1A	OMIM:614255
HP:0002011	Morphological central nervous system abnormality	5981	RFC1	OMIM:614575
HP:0002011	Morphological central nervous system abnormality	2705	GJB1	ORPHA:1175
HP:0002011	Morphological central nervous system abnormality	4976	OPA1	OMIM:210000
HP:0002011	Morphological central nervous system abnormality	267010	RNU12	ORPHA:512260
HP:0002011	Morphological central nervous system abnormality	57688	ZSWIM6	ORPHA:1827
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	OMIM:610828
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	OMIM:615465
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	ORPHA:2117
HP:0002011	Morphological central nervous system abnormality	84314	TMEM107	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	26123	TCTN3	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	79867	TCTN2	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	80776	B9D2	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	79600	TCTN1	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	57096	RPGRIP1	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	79848	CSPP1	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	80184	CEP290	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	51259	TMEM216	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	57545	CC2D2A	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	79583	TMEM231	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	91147	TMEM67	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	79770	TXNDC15	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	27077	B9D1	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	23322	RPGRIP1L	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	54903	MKS1	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	65062	TMEM237	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	5885	RAD21	OMIM:614701
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	OMIM:609637
HP:0002011	Morphological central nervous system abnormality	25914	RTTN	ORPHA:468631
HP:0002011	Morphological central nervous system abnormality	23019	CNOT1	OMIM:618500
HP:0002011	Morphological central nervous system abnormality	114803	MYSM1	ORPHA:508542
HP:0002011	Morphological central nervous system abnormality	80347	COASY	OMIM:618266
HP:0002011	Morphological central nervous system abnormality	476	ATP1A1	ORPHA:564178
HP:0002011	Morphological central nervous system abnormality	55733	HHAT	ORPHA:1422
HP:0002011	Morphological central nervous system abnormality	100151683	RNU4ATAC	OMIM:210710
HP:0002011	Morphological central nervous system abnormality	9928	KIF14	OMIM:616258
HP:0002011	Morphological central nervous system abnormality	56270	WDR45B	OMIM:617977
HP:0002011	Morphological central nervous system abnormality	3295	HSD17B4	OMIM:261515
HP:0002011	Morphological central nervous system abnormality	26227	PHGDH	ORPHA:79351
HP:0002011	Morphological central nervous system abnormality	701	BUB1B	OMIM:257300
HP:0002011	Morphological central nervous system abnormality	440193	CCDC88C	OMIM:616053
HP:0002011	Morphological central nervous system abnormality	440193	CCDC88C	ORPHA:423275
HP:0002011	Morphological central nervous system abnormality	23545	ATP6V0A2	ORPHA:2834
HP:0002011	Morphological central nervous system abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0002011	Morphological central nervous system abnormality	529	ATP6V1E1	ORPHA:357074
HP:0002011	Morphological central nervous system abnormality	123606	NIPA1	ORPHA:261183
HP:0002011	Morphological central nervous system abnormality	81614	NIPA2	ORPHA:261183
HP:0002011	Morphological central nervous system abnormality	79989	IFT56	OMIM:619534
HP:0002011	Morphological central nervous system abnormality	5575	PRKAR1B	ORPHA:412066
HP:0002011	Morphological central nervous system abnormality	478	ATP1A3	OMIM:619606
HP:0002011	Morphological central nervous system abnormality	2729	GCLC	OMIM:230450
HP:0002011	Morphological central nervous system abnormality	90161	HS6ST2	OMIM:301025
HP:0002011	Morphological central nervous system abnormality	129685	TAF8	OMIM:619972
HP:0002011	Morphological central nervous system abnormality	80311	KLHL15	OMIM:300982
HP:0002011	Morphological central nervous system abnormality	200734	SPRED2	OMIM:619745
HP:0002011	Morphological central nervous system abnormality	284252	KCTD1	OMIM:181270
HP:0002011	Morphological central nervous system abnormality	1523	CUX1	OMIM:618330
HP:0002011	Morphological central nervous system abnormality	1075	CTSC	OMIM:245000
HP:0002011	Morphological central nervous system abnormality	80267	EDEM3	OMIM:619493
HP:0002011	Morphological central nervous system abnormality	57505	AARS2	OMIM:615889
HP:0002011	Morphological central nervous system abnormality	9692	PRORP	OMIM:619737
HP:0002011	Morphological central nervous system abnormality	205327	C2orf69	OMIM:619423
HP:0002011	Morphological central nervous system abnormality	5283	PIGH	OMIM:618010
HP:0002011	Morphological central nervous system abnormality	3313	HSPA9	OMIM:616854
HP:0002011	Morphological central nervous system abnormality	1642	DDB1	OMIM:619426
HP:0002011	Morphological central nervous system abnormality	4713	NDUFB7	OMIM:620135
HP:0002011	Morphological central nervous system abnormality	10528	NOP56	ORPHA:276198
HP:0002011	Morphological central nervous system abnormality	51099	ABHD5	ORPHA:98907
HP:0002011	Morphological central nervous system abnormality	2314	FLII	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	23096	IQSEC2	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	10522	DEAF1	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	55901	THSD1	OMIM:618734
HP:0002011	Morphological central nervous system abnormality	55901	THSD1	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	7049	TGFBR3	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	1281	COL3A1	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	83854	ANGPTL6	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	2022	ENG	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	6662	SOX9	ORPHA:140
HP:0002011	Morphological central nervous system abnormality	8622	PDE8B	OMIM:609161
HP:0002011	Morphological central nervous system abnormality	4261	CIITA	OMIM:209920
HP:0002011	Morphological central nervous system abnormality	5994	RFXAP	OMIM:209920
HP:0002011	Morphological central nervous system abnormality	5993	RFX5	OMIM:209920
HP:0002011	Morphological central nervous system abnormality	8625	RFXANK	OMIM:209920
HP:0002011	Morphological central nervous system abnormality	8635	RNASET2	OMIM:612951
HP:0002011	Morphological central nervous system abnormality	5286	PIK3C2A	ORPHA:557003
HP:0002011	Morphological central nervous system abnormality	545	ATR	OMIM:210600
HP:0002011	Morphological central nervous system abnormality	10166	SLC25A15	ORPHA:415
HP:0002011	Morphological central nervous system abnormality	112755	STX1B	ORPHA:36387
HP:0002011	Morphological central nervous system abnormality	84059	ADGRV1	ORPHA:36387
HP:0002011	Morphological central nervous system abnormality	26173	INTS1	OMIM:618571
HP:0002011	Morphological central nervous system abnormality	2911	GRM1	OMIM:614831
HP:0002011	Morphological central nervous system abnormality	51780	KDM3B	OMIM:618846
HP:0002011	Morphological central nervous system abnormality	113246	C12orf57	OMIM:218340
HP:0002011	Morphological central nervous system abnormality	4953	ODC1	ORPHA:544488
HP:0002011	Morphological central nervous system abnormality	80036	TRPM3	OMIM:620224
HP:0002011	Morphological central nervous system abnormality	10283	CWC27	ORPHA:166035
HP:0002011	Morphological central nervous system abnormality	9772	TMEM94	OMIM:618316
HP:0002011	Morphological central nervous system abnormality	5076	PAX2	OMIM:120330
HP:0002011	Morphological central nervous system abnormality	7319	UBE2A	OMIM:300860
HP:0002011	Morphological central nervous system abnormality	7319	UBE2A	ORPHA:163956
HP:0002011	Morphological central nervous system abnormality	135	ADORA2A	ORPHA:363549
HP:0002011	Morphological central nervous system abnormality	9817	KEAP1	ORPHA:276399
HP:0002011	Morphological central nervous system abnormality	57107	PDSS2	ORPHA:255249
HP:0002011	Morphological central nervous system abnormality	57107	PDSS2	OMIM:614652
HP:0002011	Morphological central nervous system abnormality	3949	LDLR	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	255738	PCSK9	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	26119	LDLRAP1	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	338	APOB	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	64240	ABCG5	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	64241	ABCG8	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	54453	RIN2	OMIM:613075
HP:0002011	Morphological central nervous system abnormality	4125	MAN2B1	OMIM:248500
HP:0002011	Morphological central nervous system abnormality	5654	HTRA1	OMIM:616779
HP:0002011	Morphological central nervous system abnormality	6310	ATXN1	OMIM:164400
HP:0002011	Morphological central nervous system abnormality	1513	CTSK	ORPHA:763
HP:0002011	Morphological central nervous system abnormality	404672	GTF2H5	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	2068	ERCC2	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	136647	MPLKIP	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	6897	TARS1	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	2071	ERCC3	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	2961	GTF2E2	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	57192	MCOLN1	OMIM:252650
HP:0002011	Morphological central nervous system abnormality	3561	IL2RG	OMIM:300400
HP:0002011	Morphological central nervous system abnormality	51	ACOX1	OMIM:264470
HP:0002011	Morphological central nervous system abnormality	1436	CSF1R	OMIM:221820
HP:0002011	Morphological central nervous system abnormality	4547	MTTP	OMIM:200100
HP:0002011	Morphological central nervous system abnormality	7143	TNR	OMIM:619653
HP:0002011	Morphological central nervous system abnormality	5173	PDYN	OMIM:610245
HP:0002011	Morphological central nervous system abnormality	2744	GLS	OMIM:618328
HP:0002011	Morphological central nervous system abnormality	3643	INSR	ORPHA:769
HP:0002011	Morphological central nervous system abnormality	4143	MAT1A	OMIM:250850
HP:0002011	Morphological central nervous system abnormality	285362	SUMF1	OMIM:272200
HP:0002011	Morphological central nervous system abnormality	224	ALDH3A2	OMIM:270200
HP:0002011	Morphological central nervous system abnormality	5551	PRF1	OMIM:603553
HP:0002011	Morphological central nervous system abnormality	3119	HLA-DQB1	OMIM:126200
HP:0002011	Morphological central nervous system abnormality	5133	PDCD1	OMIM:126200
HP:0002011	Morphological central nervous system abnormality	3123	HLA-DRB1	OMIM:126200
HP:0002011	Morphological central nervous system abnormality	2720	GLB1	OMIM:230500
HP:0002011	Morphological central nervous system abnormality	25939	SAMHD1	OMIM:612952
HP:0002011	Morphological central nervous system abnormality	7277	TUBA4A	OMIM:616208
HP:0002011	Morphological central nervous system abnormality	4556	MT-TE	ORPHA:225
HP:0002011	Morphological central nervous system abnormality	51114	ZDHHC9	ORPHA:776
HP:0002011	Morphological central nervous system abnormality	65109	UPF3B	ORPHA:776
HP:0002011	Morphological central nervous system abnormality	1621	DBH	OMIM:223360
HP:0002011	Morphological central nervous system abnormality	3972	LHB	OMIM:228300
HP:0002011	Morphological central nervous system abnormality	254394	MCM9	OMIM:616185
HP:0002011	Morphological central nervous system abnormality	84733	CBX2	OMIM:613080
HP:0002011	Morphological central nervous system abnormality	4439	MSH5	OMIM:617442
HP:0002011	Morphological central nervous system abnormality	158401	SHOC1	OMIM:619949
HP:0002011	Morphological central nervous system abnormality	7200	TRH	OMIM:275120
HP:0002011	Morphological central nervous system abnormality	3952	LEP	ORPHA:66628
HP:0002011	Morphological central nervous system abnormality	4437	MSH3	OMIM:617100
HP:0002011	Morphological central nervous system abnormality	4437	MSH3	ORPHA:480536
HP:0002011	Morphological central nervous system abnormality	79621	RNASEH2B	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	100147744	RNU7-1	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	134353	LSM11	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	64135	IFIH1	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	7428	VHL	ORPHA:892
HP:0002011	Morphological central nervous system abnormality	7428	VHL	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	7428	VHL	OMIM:193300
HP:0002011	Morphological central nervous system abnormality	595	CCND1	ORPHA:892
HP:0002011	Morphological central nervous system abnormality	595	CCND1	OMIM:193300
HP:0002011	Morphological central nervous system abnormality	1743	DLST	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	5979	RET	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	23095	KIF1B	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	8402	SLC25A11	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	54949	SDHAF2	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	55654	TMEM127	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	6391	SDHC	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	6392	SDHD	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	6390	SDHB	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	4149	MAX	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	25913	POT1	OMIM:616568
HP:0002011	Morphological central nervous system abnormality	324	APC	ORPHA:99818
HP:0002011	Morphological central nervous system abnormality	11200	CHEK2	OMIM:609265
HP:0002011	Morphological central nervous system abnormality	161742	SPRED1	ORPHA:137605
HP:0002011	Morphological central nervous system abnormality	2303	FOXC2	ORPHA:33001
HP:0002011	Morphological central nervous system abnormality	84065	TMEM222	OMIM:619470
HP:0002011	Morphological central nervous system abnormality	55627	SMPD4	OMIM:618622
HP:0002011	Morphological central nervous system abnormality	116115	ZNF526	OMIM:619877
HP:0002011	Morphological central nervous system abnormality	1457	CSNK2A1	OMIM:617062
HP:0002011	Morphological central nervous system abnormality	1062	CENPE	OMIM:616051
HP:0002011	Morphological central nervous system abnormality	22983	MAST1	OMIM:618273
HP:0002011	Morphological central nervous system abnormality	387787	LIPT2	OMIM:617668
HP:0002011	Morphological central nervous system abnormality	10293	TRAIP	OMIM:616777
HP:0002011	Morphological central nervous system abnormality	2067	ERCC1	OMIM:610758
HP:0002011	Morphological central nervous system abnormality	84823	LMNB2	OMIM:616540
HP:0002011	Morphological central nervous system abnormality	84823	LMNB2	OMIM:619180
HP:0002011	Morphological central nervous system abnormality	6597	SMARCA4	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6659	SOX4	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	8289	ARID1A	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	5977	DPF2	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6602	SMARCD1	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	7436	VLDLR	OMIM:224050
HP:0002011	Morphological central nervous system abnormality	84081	NSRP1	OMIM:620001
HP:0002011	Morphological central nervous system abnormality	51645	PPIL1	OMIM:619301
HP:0002011	Morphological central nervous system abnormality	51362	CDC40	OMIM:619302
HP:0002011	Morphological central nervous system abnormality	3832	KIF11	OMIM:152950
HP:0002011	Morphological central nervous system abnormality	29980	DONSON	OMIM:617604
HP:0002011	Morphological central nervous system abnormality	29980	DONSON	OMIM:251230
HP:0002011	Morphological central nervous system abnormality	3835	KIF22	OMIM:603546
HP:0002011	Morphological central nervous system abnormality	9790	BMS1	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	5339	PLEC	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	10054	UBA2	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	3691	ITGB4	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	8216	LZTR1	OMIM:615670
HP:0002011	Morphological central nervous system abnormality	2627	GATA6	ORPHA:2255
HP:0002011	Morphological central nervous system abnormality	55599	RNPC3	OMIM:618160
HP:0002011	Morphological central nervous system abnormality	9791	PTDSS1	OMIM:151050
HP:0002011	Morphological central nervous system abnormality	55131	RBM28	ORPHA:157954
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:177904
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:177901
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:98754
HP:0002011	Morphological central nervous system abnormality	2688	GH1	OMIM:173100
HP:0002011	Morphological central nervous system abnormality	2692	GHRHR	OMIM:618157
HP:0002011	Morphological central nervous system abnormality	283987	HID1	OMIM:619983
HP:0002011	Morphological central nervous system abnormality	2018	EMX2	OMIM:269160
HP:0002011	Morphological central nervous system abnormality	7471	WNT1	OMIM:615220
HP:0002011	Morphological central nervous system abnormality	1284	COL4A2	OMIM:614483
HP:0002011	Morphological central nervous system abnormality	6804	STX1A	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	7461	CLIP2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	84277	DNAJC30	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	8468	FKBP6	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	5982	RFC2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	2969	GTF2I	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	3984	LIMK1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	9569	GTF2IRD1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	155382	VPS37D	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	155368	METTL27	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	114049	BUD23	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	7458	EIF4H	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	84163	GTF2IRD2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	9275	BCL7B	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	26608	TBL2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	653361	NCF1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	135886	TMEM270	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	51085	MLXIPL	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	9031	BAZ1B	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	4693	NDP	ORPHA:649
HP:0002011	Morphological central nervous system abnormality	5903	RANBP2	ORPHA:88619
HP:0002011	Morphological central nervous system abnormality	55209	SETD5	ORPHA:404440
HP:0002011	Morphological central nervous system abnormality	4747	NEFL	ORPHA:101085
HP:0002011	Morphological central nervous system abnormality	2395	FXN	ORPHA:95
HP:0002011	Morphological central nervous system abnormality	55252	ASXL2	OMIM:617190
HP:0002011	Morphological central nervous system abnormality	51021	MRPS16	OMIM:610498
HP:0002011	Morphological central nervous system abnormality	9578	CDC42BPB	OMIM:619841
HP:0002011	Morphological central nervous system abnormality	3458	IFNG	ORPHA:805
HP:0002011	Morphological central nervous system abnormality	29998	BICRA	OMIM:619325
HP:0002011	Morphological central nervous system abnormality	6599	SMARCC1	OMIM:620241
HP:0002011	Morphological central nervous system abnormality	5238	PGM3	OMIM:615816
HP:0002011	Morphological central nervous system abnormality	9918	NCAPD2	OMIM:617983
HP:0002011	Morphological central nervous system abnormality	1984	EIF5A	OMIM:619376
HP:0002011	Morphological central nervous system abnormality	6045	RNF2	OMIM:619460
HP:0002011	Morphological central nervous system abnormality	4905	NSF	OMIM:619340
HP:0002011	Morphological central nervous system abnormality	3712	IVD	OMIM:243500
HP:0002011	Morphological central nervous system abnormality	9095	TBX19	OMIM:201400
HP:0002011	Morphological central nervous system abnormality	5456	POU3F4	ORPHA:1435
HP:0002011	Morphological central nervous system abnormality	84133	ZNRF3	ORPHA:1501
HP:0002011	Morphological central nervous system abnormality	7157	TP53	ORPHA:1501
HP:0002011	Morphological central nervous system abnormality	1029	CDKN2A	ORPHA:1501
HP:0002011	Morphological central nervous system abnormality	1583	CYP11A1	ORPHA:289548
HP:0002011	Morphological central nervous system abnormality	1583	CYP11A1	ORPHA:168558
HP:0002011	Morphological central nervous system abnormality	1583	CYP11A1	OMIM:613743
HP:0002011	Morphological central nervous system abnormality	3284	HSD3B2	ORPHA:90791
HP:0002011	Morphological central nervous system abnormality	4173	MCM4	OMIM:609981
HP:0002011	Morphological central nervous system abnormality	1586	CYP17A1	ORPHA:90793
HP:0002011	Morphological central nervous system abnormality	2077	ERF	OMIM:600775
HP:0002011	Morphological central nervous system abnormality	6926	TBX3	OMIM:181450
HP:0002011	Morphological central nervous system abnormality	6091	ROBO1	ORPHA:95496
HP:0002011	Morphological central nervous system abnormality	23432	GPR161	ORPHA:95496
HP:0002011	Morphological central nervous system abnormality	9049	AIP	ORPHA:99725
HP:0002011	Morphological central nervous system abnormality	9049	AIP	ORPHA:963
HP:0002011	Morphological central nervous system abnormality	9049	AIP	OMIM:102200
HP:0002011	Morphological central nervous system abnormality	83550	GPR101	ORPHA:963
HP:0002011	Morphological central nervous system abnormality	50940	PDE11A	ORPHA:1359
HP:0002011	Morphological central nervous system abnormality	4221	MEN1	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1027	CDKN1B	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1026	CDKN1A	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1030	CDKN2B	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1031	CDKN2C	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	5660	PSAP	OMIM:610539
HP:0002011	Morphological central nervous system abnormality	80222	TARS2	OMIM:615918
HP:0002011	Morphological central nervous system abnormality	30813	VSX1	OMIM:614195
HP:0002011	Morphological central nervous system abnormality	4287	ATXN3	ORPHA:276238
HP:0002011	Morphological central nervous system abnormality	4287	ATXN3	ORPHA:276244
HP:0002011	Morphological central nervous system abnormality	4287	ATXN3	ORPHA:276241
HP:0002011	Morphological central nervous system abnormality	2245	FGD1	OMIM:305400
HP:0002011	Morphological central nervous system abnormality	286053	NSMCE2	OMIM:617253
HP:0002011	Morphological central nervous system abnormality	1730	DIAPH2	OMIM:300511
HP:0002011	Morphological central nervous system abnormality	2100	ESR2	OMIM:618187
HP:0002011	Morphological central nervous system abnormality	4438	MSH4	OMIM:619938
HP:0002011	Morphological central nervous system abnormality	8192	CLPP	OMIM:614129
HP:0002011	Morphological central nervous system abnormality	84515	MCM8	OMIM:612885
HP:0002011	Morphological central nervous system abnormality	658	BMPR1B	OMIM:609441
HP:0002011	Morphological central nervous system abnormality	5447	POR	ORPHA:95699
HP:0002011	Morphological central nervous system abnormality	367	AR	OMIM:300068
HP:0002011	Morphological central nervous system abnormality	367	AR	ORPHA:90797
HP:0002011	Morphological central nervous system abnormality	367	AR	ORPHA:99429
HP:0002011	Morphological central nervous system abnormality	93953	GCNA	OMIM:301077
HP:0002011	Morphological central nervous system abnormality	2661	GDF9	OMIM:618014
HP:0002011	Morphological central nervous system abnormality	317761	C14orf39	OMIM:619203
HP:0002011	Morphological central nervous system abnormality	55012	PPP2R3C	OMIM:618419
HP:0002011	Morphological central nervous system abnormality	344018	FIGLA	OMIM:612310
HP:0002011	Morphological central nervous system abnormality	164045	HFM1	OMIM:615724
HP:0002011	Morphological central nervous system abnormality	84634	KISS1R	OMIM:176400
HP:0002011	Morphological central nervous system abnormality	10734	STAG3	OMIM:615723
HP:0002011	Morphological central nervous system abnormality	2488	FSHB	OMIM:229070
HP:0002011	Morphological central nervous system abnormality	10015	PDCD6IP	OMIM:620047
HP:0002011	Morphological central nervous system abnormality	3178	HNRNPA1	ORPHA:52430
HP:0002011	Morphological central nervous system abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0002011	Morphological central nervous system abnormality	8676	STX11	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	201294	UNC13D	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	6813	STXBP2	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	100996717	NOTCH2NLC	OMIM:603472
HP:0002011	Morphological central nervous system abnormality	10735	STAG2	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	10735	STAG2	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	8243	SMC1A	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	6491	STIL	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6491	STIL	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6491	STIL	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6491	STIL	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	2736	GLI2	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2736	GLI2	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	2736	GLI2	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2736	GLI2	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	8314	BAP1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	4771	NF2	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	6598	SMARCB1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	84231	TRAF7	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	6608	SMO	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	207	AKT1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	5290	PIK3CA	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	7015	TERT	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	6605	SMARCE1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	23007	PLCH1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	3953	LEPR	OMIM:614963
HP:0002011	Morphological central nervous system abnormality	1499	CTNNB1	ORPHA:54595
HP:0002011	Morphological central nervous system abnormality	673	BRAF	ORPHA:54595
HP:0002011	Morphological central nervous system abnormality	6492	SIM1	ORPHA:398079
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	ORPHA:398069
HP:0002011	Morphological central nervous system abnormality	8022	LHX3	ORPHA:231720
HP:0002011	Morphological central nervous system abnormality	10525	HYOU1	OMIM:233600
HP:0002011	Morphological central nervous system abnormality	3071	NCKAP1L	OMIM:618982
HP:0002011	Morphological central nervous system abnormality	677814	SNORA31	OMIM:619396
HP:0002011	Morphological central nervous system abnormality	6660	SOX5	ORPHA:313892
HP:0002011	Morphological central nervous system abnormality	6341	SCO1	OMIM:619048
HP:0002011	Morphological central nervous system abnormality	427	ASAH1	ORPHA:333
HP:0002011	Morphological central nervous system abnormality	29967	LRP12	OMIM:164310
HP:0002011	Morphological central nervous system abnormality	56479	KCNQ5	OMIM:617601
HP:0002011	Morphological central nervous system abnormality	51241	COX16	OMIM:619355
HP:0002011	Morphological central nervous system abnormality	10846	PDE10A	ORPHA:494526
HP:0002011	Morphological central nervous system abnormality	9829	DNAJC6	ORPHA:391411
HP:0002011	Morphological central nervous system abnormality	5420	PODXL	ORPHA:391411
HP:0002011	Morphological central nervous system abnormality	51611	DPH5	OMIM:620070
HP:0002011	Morphological central nervous system abnormality	57570	TRMT5	OMIM:616539
HP:0002011	Morphological central nervous system abnormality	50640	PNPLA8	OMIM:251950
HP:0002011	Morphological central nervous system abnormality	51284	TLR7	OMIM:301080
HP:0002011	Morphological central nervous system abnormality	22827	PUF60	ORPHA:508498
HP:0002011	Morphological central nervous system abnormality	79971	WLS	OMIM:619648
HP:0002011	Morphological central nervous system abnormality	4763	NF1	ORPHA:97685
HP:0002011	Morphological central nervous system abnormality	4629	MYH11	OMIM:132900
HP:0002011	Morphological central nervous system abnormality	6477	SIAH1	OMIM:619314
HP:0002011	Morphological central nervous system abnormality	1384	CRAT	OMIM:617917
HP:0002011	Morphological central nervous system abnormality	57104	PNPLA2	ORPHA:98908
HP:0002011	Morphological central nervous system abnormality	11023	VAX1	OMIM:614402
HP:0002011	Morphological central nervous system abnormality	6342	SCP2	OMIM:613724
HP:0002011	Morphological central nervous system abnormality	9440	MED17	OMIM:613668
HP:0002011	Morphological central nervous system abnormality	56947	MFF	ORPHA:485421
HP:0002011	Morphological central nervous system abnormality	26275	HIBCH	ORPHA:88639
HP:0002011	Morphological central nervous system abnormality	23474	ETHE1	ORPHA:51188
HP:0002011	Morphological central nervous system abnormality	10398	MYL9	OMIM:619365
HP:0002011	Morphological central nervous system abnormality	9839	ZEB2	ORPHA:261537
HP:0002011	Morphological central nervous system abnormality	9839	ZEB2	ORPHA:261552
HP:0002011	Morphological central nervous system abnormality	9839	ZEB2	OMIM:235730
HP:0002011	Morphological central nervous system abnormality	23230	VPS13A	ORPHA:2388
HP:0002011	Morphological central nervous system abnormality	7025	NR2F1	ORPHA:401777
HP:0002011	Morphological central nervous system abnormality	57465	TBC1D24	ORPHA:352582
HP:0002011	Morphological central nervous system abnormality	2902	GRIN1	ORPHA:208447
HP:0002011	Morphological central nervous system abnormality	23499	MACF1	ORPHA:572013
HP:0002011	Morphological central nervous system abnormality	387119	CEP85L	ORPHA:572013
HP:0002011	Morphological central nervous system abnormality	56896	DPYSL5	OMIM:619435
HP:0002011	Morphological central nervous system abnormality	6335	SCN9A	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	2554	GABRA1	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	6324	SCN1B	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	57526	PCDH19	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	2566	GABRG2	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	23030	KDM4B	OMIM:619320
HP:0002011	Morphological central nervous system abnormality	4522	MTHFD1	OMIM:617780
HP:0002011	Morphological central nervous system abnormality	5457	POU4F1	ORPHA:314647
HP:0002011	Morphological central nervous system abnormality	22872	SEC31A	OMIM:618651
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309271
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309263
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309256
HP:0002011	Morphological central nervous system abnormality	473	RERE	OMIM:616975
HP:0002011	Morphological central nervous system abnormality	5424	POLD1	ORPHA:447877
HP:0002011	Morphological central nervous system abnormality	7373	COL14A1	ORPHA:79501
HP:0002011	Morphological central nervous system abnormality	79719	AAGAB	ORPHA:79501
HP:0002011	Morphological central nervous system abnormality	65998	ZFTA	ORPHA:251636
HP:0002011	Morphological central nervous system abnormality	5970	RELA	ORPHA:251636
HP:0002011	Morphological central nervous system abnormality	2050	EPHB4	ORPHA:137667
HP:0002011	Morphological central nervous system abnormality	2050	EPHB4	OMIM:618196
HP:0002011	Morphological central nervous system abnormality	1906	EDN1	ORPHA:137888
HP:0002011	Morphological central nervous system abnormality	5332	PLCB4	ORPHA:137888
HP:0002011	Morphological central nervous system abnormality	2773	GNAI3	ORPHA:137888
HP:0002011	Morphological central nervous system abnormality	2157	F8	ORPHA:169805
HP:0002011	Morphological central nervous system abnormality	4774	NFIA	ORPHA:401986
HP:0002011	Morphological central nervous system abnormality	55788	LMBRD1	ORPHA:79284
HP:0002011	Morphological central nervous system abnormality	284058	KANSL1	ORPHA:363965
HP:0002011	Morphological central nervous system abnormality	284058	KANSL1	ORPHA:363958
HP:0002011	Morphological central nervous system abnormality	6678	SPARC	OMIM:616507
HP:0002011	Morphological central nervous system abnormality	165918	RNF168	ORPHA:420741
HP:0002011	Morphological central nervous system abnormality	100131801	PET100	OMIM:619055
HP:0002011	Morphological central nervous system abnormality	92935	MARS2	OMIM:616430
HP:0002011	Morphological central nervous system abnormality	79853	TM4SF20	OMIM:615432
HP:0002011	Morphological central nervous system abnormality	7555	CNBP	OMIM:602668
HP:0002011	Morphological central nervous system abnormality	5058	PAK1	OMIM:618158
HP:0002011	Morphological central nervous system abnormality	10060	ABCC9	OMIM:619719
HP:0002011	Morphological central nervous system abnormality	55768	NGLY1	OMIM:615273
HP:0002011	Morphological central nervous system abnormality	3514	IGKC	ORPHA:183675
HP:0002011	Morphological central nervous system abnormality	3501	IGHG2	ORPHA:183675
HP:0002011	Morphological central nervous system abnormality	213	ALB	OMIM:615999
HP:0002011	Morphological central nervous system abnormality	7234	TRU-TCA1-1	OMIM:620198
HP:0002011	Morphological central nervous system abnormality	1363	CPE	OMIM:619326
HP:0002011	Morphological central nervous system abnormality	100134444	KCNJ18	OMIM:613239
HP:0002011	Morphological central nervous system abnormality	1641	DCX	OMIM:300067
HP:0002011	Morphological central nervous system abnormality	1641	DCX	ORPHA:2148
HP:0002011	Morphological central nervous system abnormality	1020	CDK5	OMIM:616342
HP:0002011	Morphological central nervous system abnormality	7283	TUBG1	OMIM:615412
HP:0002011	Morphological central nervous system abnormality	3796	KIF2A	OMIM:615411
HP:0002011	Morphological central nervous system abnormality	5048	PAFAH1B1	OMIM:607432
HP:0002011	Morphological central nervous system abnormality	5048	PAFAH1B1	ORPHA:95232
HP:0002011	Morphological central nervous system abnormality	8131	NPRL3	OMIM:617118
HP:0002011	Morphological central nervous system abnormality	8131	NPRL3	ORPHA:98820
HP:0002011	Morphological central nervous system abnormality	10641	NPRL2	OMIM:617116
HP:0002011	Morphological central nervous system abnormality	10641	NPRL2	ORPHA:98820
HP:0002011	Morphological central nervous system abnormality	9681	DEPDC5	OMIM:604364
HP:0002011	Morphological central nervous system abnormality	9681	DEPDC5	ORPHA:98820
HP:0002011	Morphological central nervous system abnormality	23309	SIN3B	ORPHA:500166
HP:0002011	Morphological central nervous system abnormality	7276	TTR	OMIM:105210
HP:0002011	Morphological central nervous system abnormality	3574	IL7	OMIM:618309
HP:0002011	Morphological central nervous system abnormality	22859	ADGRL1	OMIM:620065
HP:0002011	Morphological central nervous system abnormality	2065	ERBB3	OMIM:243180
HP:0002011	Morphological central nervous system abnormality	2200	FBN1	OMIM:154700
HP:0002011	Morphological central nervous system abnormality	8471	IRS4	OMIM:301035
HP:0002011	Morphological central nervous system abnormality	6907	TBL1X	OMIM:301033
HP:0002011	Morphological central nervous system abnormality	3547	IGSF1	OMIM:300888
HP:0002011	Morphological central nervous system abnormality	1000	CDH2	OMIM:618929
HP:0002011	Morphological central nervous system abnormality	939	CD27	OMIM:615122
HP:0002011	Morphological central nervous system abnormality	490	ATP2B1	OMIM:619910
HP:0002011	Morphological central nervous system abnormality	5443	POMC	OMIM:609734
HP:0002011	Morphological central nervous system abnormality	5573	PRKAR1A	OMIM:101800
HP:0002011	Morphological central nervous system abnormality	6900	CNTN2	OMIM:615400
HP:0002011	Morphological central nervous system abnormality	91137	SLC25A46	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	3008	H1-4	OMIM:617537
HP:0002011	Morphological central nervous system abnormality	1119	CHKA	OMIM:620023
HP:0002011	Morphological central nervous system abnormality	11198	SUPT16H	OMIM:619480
HP:0002011	Morphological central nervous system abnormality	3020	H3-3A	OMIM:619720
HP:0002011	Morphological central nervous system abnormality	55182	RNF220	OMIM:619688
HP:0002011	Morphological central nervous system abnormality	23031	MAST3	OMIM:620115
HP:0002011	Morphological central nervous system abnormality	84520	GON7	OMIM:619603
HP:0002011	Morphological central nervous system abnormality	79158	GNPTAB	OMIM:252500
HP:0002011	Morphological central nervous system abnormality	6595	SMARCA2	OMIM:619293
HP:0002011	Morphological central nervous system abnormality	111	ADCY5	OMIM:619651
HP:0002011	Morphological central nervous system abnormality	23522	KAT6B	OMIM:606170
HP:0002011	Morphological central nervous system abnormality	1107	CHD3	OMIM:618205
HP:0002011	Morphological central nervous system abnormality	7920	ABHD16A	OMIM:619735
HP:0002011	Morphological central nervous system abnormality	9439	MED23	OMIM:614249
HP:0002011	Morphological central nervous system abnormality	819	CAMLG	OMIM:620201
HP:0002011	Morphological central nervous system abnormality	51608	GET4	OMIM:620200
HP:0002011	Morphological central nervous system abnormality	2801	GOLGA2	OMIM:620240
HP:0002011	Morphological central nervous system abnormality	2898	GRIK2	OMIM:619580
HP:0002011	Morphological central nervous system abnormality	26175	LYSET	OMIM:619345
HP:0002011	Morphological central nervous system abnormality	5442	POLRMT	OMIM:619743
HP:0002011	Morphological central nervous system abnormality	3980	LIG3	OMIM:619780
HP:0002011	Morphological central nervous system abnormality	51163	DBR1	OMIM:619441
HP:0002011	Morphological central nervous system abnormality	10367	MICU1	OMIM:615673
HP:0002011	Morphological central nervous system abnormality	4781	NFIB	OMIM:618286
HP:0002011	Morphological central nervous system abnormality	1725	DHPS	OMIM:618480
HP:0002011	Morphological central nervous system abnormality	540	ATP7B	OMIM:277900
HP:0002011	Morphological central nervous system abnormality	2972	BRF1	OMIM:616202
HP:0002011	Morphological central nervous system abnormality	959	CD40LG	OMIM:308230
HP:0002011	Morphological central nervous system abnormality	1893	ECM1	OMIM:247100
HP:0002011	Morphological central nervous system abnormality	29920	PYCR2	OMIM:616420
HP:0002011	Morphological central nervous system abnormality	7862	BRPF1	OMIM:617333
HP:0002011	Morphological central nervous system abnormality	343450	KCNT2	OMIM:617771
HP:0002011	Morphological central nervous system abnormality	5119	CHMP1A	OMIM:614961
HP:0002011	Morphological central nervous system abnormality	5530	PPP3CA	OMIM:617711
HP:0002011	Morphological central nervous system abnormality	6709	SPTAN1	OMIM:613477
HP:0002011	Morphological central nervous system abnormality	64919	BCL11B	OMIM:617237
HP:0002011	Morphological central nervous system abnormality	54187	NANS	OMIM:610442
HP:0002011	Morphological central nervous system abnormality	54675	CRLS1	OMIM:620167
HP:0002011	Morphological central nervous system abnormality	1496	CTNNA2	OMIM:618174
HP:0002011	Morphological central nervous system abnormality	51506	UFC1	OMIM:618076
HP:0002011	Morphological central nervous system abnormality	3658	IREB2	OMIM:618451
HP:0002011	Morphological central nervous system abnormality	7280	TUBB2A	OMIM:615763
HP:0002011	Morphological central nervous system abnormality	27445	PCLO	OMIM:608027
HP:0002011	Morphological central nervous system abnormality	9230	RAB11B	OMIM:617807
HP:0002011	Morphological central nervous system abnormality	10978	CLP1	OMIM:615803
HP:0002011	Morphological central nervous system abnormality	26153	KIF26A	OMIM:620156
HP:0002011	Morphological central nervous system abnormality	1759	DNM1	OMIM:620352
HP:0002011	Morphological central nervous system abnormality	10430	TMEM147	OMIM:620075
HP:0002011	Morphological central nervous system abnormality	91801	ALKBH8	OMIM:618504
HP:0002011	Morphological central nervous system abnormality	3043	HBB	ORPHA:231214
HP:0002011	Morphological central nervous system abnormality	3043	HBB	ORPHA:231226
HP:0002011	Morphological central nervous system abnormality	116519	APOA5	OMIM:145750
HP:0002011	Morphological central nervous system abnormality	28982	FLVCR1	OMIM:609033
HP:0002011	Morphological central nervous system abnormality	5455	POU3F3	OMIM:618604
HP:0002011	Morphological central nervous system abnormality	10371	SEMA3A	OMIM:614897
HP:0002011	Morphological central nervous system abnormality	170825	GSX2	OMIM:618646
HP:0002011	Morphological central nervous system abnormality	23347	SMCHD1	ORPHA:2250
HP:0002011	Morphological central nervous system abnormality	347733	TUBB2B	ORPHA:467166
HP:0002011	Morphological central nervous system abnormality	7846	TUBA1A	ORPHA:467166
HP:0002011	Morphological central nervous system abnormality	10381	TUBB3	ORPHA:467166
HP:0002011	Morphological central nervous system abnormality	11277	TREX1	ORPHA:247691
HP:0002011	Morphological central nervous system abnormality	54704	PDP1	ORPHA:79246
HP:0002011	Morphological central nervous system abnormality	2548	GAA	ORPHA:308552
HP:0002011	Morphological central nervous system abnormality	1053	CEBPE	OMIM:245480
HP:0002011	Morphological central nervous system abnormality	999	CDH1	OMIM:119580
HP:0002011	Morphological central nervous system abnormality	2048	EPHB2	OMIM:603688
HP:0002011	Morphological central nervous system abnormality	2130	EWSR1	ORPHA:83469
HP:0002011	Morphological central nervous system abnormality	6857	SYT1	ORPHA:522077
HP:0002011	Morphological central nervous system abnormality	51651	PTRH2	ORPHA:456312
HP:0002011	Morphological central nervous system abnormality	59336	PRDM13	OMIM:619909
HP:0002011	Morphological central nervous system abnormality	4644	MYO5A	ORPHA:33445
HP:0002011	Morphological central nervous system abnormality	51360	MBTPS2	ORPHA:2273
HP:0002011	Morphological central nervous system abnormality	79813	EHMT1	ORPHA:96147
HP:0002011	Morphological central nervous system abnormality	71	ACTG1	ORPHA:2995
HP:0002011	Morphological central nervous system abnormality	60	ACTB	ORPHA:2995
HP:0002011	Morphological central nervous system abnormality	23299	BICD2	OMIM:618291
HP:0002011	Morphological central nervous system abnormality	3674	ITGA2B	OMIM:273800
HP:0002011	Morphological central nervous system abnormality	1785	DNM2	OMIM:615368
HP:0002011	Morphological central nervous system abnormality	8241	RBM10	OMIM:311900
HP:0002011	Morphological central nervous system abnormality	5054	SERPINE1	ORPHA:465
HP:0002011	Morphological central nervous system abnormality	2243	FGA	OMIM:202400
HP:0002011	Morphological central nervous system abnormality	2244	FGB	OMIM:202400
HP:0002011	Morphological central nervous system abnormality	2266	FGG	OMIM:202400
HP:0002011	Morphological central nervous system abnormality	10526	IPO8	OMIM:619472
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	OMIM:605543
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	ORPHA:171695
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	OMIM:168601
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	OMIM:127750
HP:0002011	Morphological central nervous system abnormality	5071	PRKN	OMIM:600116
HP:0002011	Morphological central nervous system abnormality	25793	FBXO7	ORPHA:171695
HP:0002011	Morphological central nervous system abnormality	1981	EIF4G1	OMIM:614251
HP:0002011	Morphological central nervous system abnormality	1981	EIF4G1	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	7072	TIA1	OMIM:619133
HP:0002011	Morphological central nervous system abnormality	120892	LRRK2	OMIM:607060
HP:0002011	Morphological central nervous system abnormality	120892	LRRK2	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	54832	VPS13C	OMIM:616840
HP:0002011	Morphological central nervous system abnormality	2629	GBA1	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	2629	GBA1	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	2629	GBA1	OMIM:127750
HP:0002011	Morphological central nervous system abnormality	23317	DNAJC13	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	55737	VPS35	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	26058	GIGYF2	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	2747	GLUD2	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	126	ADH1C	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	6908	TBP	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	4576	MT-TT	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	9627	SNCAIP	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	6311	ATXN2	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	6620	SNCB	OMIM:127750
HP:0002011	Morphological central nervous system abnormality	7957	EPM2A	OMIM:254780
HP:0002011	Morphological central nervous system abnormality	7957	EPM2A	ORPHA:501
HP:0002011	Morphological central nervous system abnormality	378884	NHLRC1	OMIM:254780
HP:0002011	Morphological central nervous system abnormality	378884	NHLRC1	ORPHA:501
HP:0002011	Morphological central nervous system abnormality	56978	PRDM8	ORPHA:324290
HP:0002011	Morphological central nervous system abnormality	56978	PRDM8	OMIM:616640
HP:0002011	Morphological central nervous system abnormality	1182	CLCN3	OMIM:619517
HP:0002011	Morphological central nervous system abnormality	1182	CLCN3	OMIM:619512
HP:0002011	Morphological central nervous system abnormality	2670	GFAP	OMIM:203450
HP:0002011	Morphological central nervous system abnormality	1356	CP	ORPHA:48818
HP:0002011	Morphological central nervous system abnormality	8813	DPM1	ORPHA:79322
HP:0002011	Morphological central nervous system abnormality	6253	RTN2	ORPHA:100993
HP:0002011	Morphological central nervous system abnormality	51271	UBAP1	ORPHA:100993
HP:0002011	Morphological central nervous system abnormality	51218	GLRX5	ORPHA:401866
HP:0002011	Morphological central nervous system abnormality	3839	KPNA3	ORPHA:171612
HP:0002011	Morphological central nervous system abnormality	11235	PDCD10	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	83605	CCM2	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	889	KRIT1	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	9197	SLC33A1	ORPHA:171863
HP:0002011	Morphological central nervous system abnormality	9820	CUL7	ORPHA:2616
HP:0002011	Morphological central nervous system abnormality	23363	OBSL1	ORPHA:2616
HP:0002011	Morphological central nervous system abnormality	5624	PROC	ORPHA:745
HP:0002011	Morphological central nervous system abnormality	56922	MCCC1	ORPHA:6
HP:0002011	Morphological central nervous system abnormality	64087	MCCC2	ORPHA:6
HP:0002011	Morphological central nervous system abnormality	326	AIRE	ORPHA:3453
HP:0002011	Morphological central nervous system abnormality	83480	PUS3	OMIM:617051
HP:0002011	Morphological central nervous system abnormality	83480	PUS3	ORPHA:488627
HP:0002011	Morphological central nervous system abnormality	29899	GPSM2	OMIM:604213
HP:0002011	Morphological central nervous system abnormality	3747	KCNC2	OMIM:619913
HP:0002011	Morphological central nervous system abnormality	4897	NRCAM	OMIM:619833
HP:0002011	Morphological central nervous system abnormality	6323	SCN1A	OMIM:619317
HP:0002011	Morphological central nervous system abnormality	3703	STT3A	OMIM:619714
HP:0002011	Morphological central nervous system abnormality	85358	SHANK3	OMIM:606232
HP:0002011	Morphological central nervous system abnormality	85358	SHANK3	ORPHA:48652
HP:0002011	Morphological central nervous system abnormality	55593	OTUD5	OMIM:301056
HP:0002011	Morphological central nervous system abnormality	4854	NOTCH3	OMIM:130720
HP:0002011	Morphological central nervous system abnormality	57169	ZNFX1	OMIM:619644
HP:0002011	Morphological central nervous system abnormality	6651	SON	OMIM:617140
HP:0002011	Morphological central nervous system abnormality	6651	SON	ORPHA:500150
HP:0002011	Morphological central nervous system abnormality	113179	ADAT3	ORPHA:363528
HP:0002011	Morphological central nervous system abnormality	113179	ADAT3	OMIM:615286
HP:0002011	Morphological central nervous system abnormality	25782	RAB3GAP2	OMIM:212720
HP:0002011	Morphological central nervous system abnormality	51726	DNAJB11	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	23193	GANAB	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	5310	PKD1	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	5311	PKD2	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	29880	ALG5	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	79796	ALG9	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	80114	BICC1	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	4677	NARS1	OMIM:619091
HP:0002011	Morphological central nervous system abnormality	64324	NSD1	OMIM:117550
HP:0002011	Morphological central nervous system abnormality	537	ATP6AP1	OMIM:300972
HP:0002011	Morphological central nervous system abnormality	5528	PPP2R5D	ORPHA:457279
HP:0002011	Morphological central nervous system abnormality	10463	SLC30A9	OMIM:617595
HP:0002011	Morphological central nervous system abnormality	6326	SCN2A	OMIM:618924
HP:0002011	Morphological central nervous system abnormality	131118	DNAJC19	ORPHA:66634
HP:0002011	Morphological central nervous system abnormality	63929	XPNPEP3	OMIM:613159
HP:0002011	Morphological central nervous system abnormality	51322	WAC	ORPHA:466950
HP:0002011	Morphological central nervous system abnormality	4750	NEK1	ORPHA:2751
HP:0002011	Morphological central nervous system abnormality	3265	HRAS	ORPHA:2874
HP:0002011	Morphological central nervous system abnormality	1717	DHCR7	OMIM:270400
HP:0002011	Morphological central nervous system abnormality	23258	DENND5A	OMIM:617281
HP:0002011	Morphological central nervous system abnormality	26278	SACS	ORPHA:98
HP:0002011	Morphological central nervous system abnormality	3845	KRAS	OMIM:600268
HP:0002011	Morphological central nervous system abnormality	25970	SH2B1	ORPHA:261197
HP:0002011	Morphological central nervous system abnormality	4893	NRAS	OMIM:249400
HP:0002011	Morphological central nervous system abnormality	10682	EBP	ORPHA:35173
HP:0002011	Morphological central nervous system abnormality	196528	ARID2	OMIM:617808
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:101200
HP:0002011	Morphological central nervous system abnormality	9131	AIFM1	ORPHA:83629
HP:0002011	Morphological central nervous system abnormality	5354	PLP1	OMIM:312080
HP:0002011	Morphological central nervous system abnormality	4088	SMAD3	ORPHA:284984
HP:0002011	Morphological central nervous system abnormality	4088	SMAD3	OMIM:613795
HP:0002011	Morphological central nervous system abnormality	4088	SMAD3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4015	LOX	OMIM:617168
HP:0002011	Morphological central nervous system abnormality	4015	LOX	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	8076	MFAP5	OMIM:616166
HP:0002011	Morphological central nervous system abnormality	8076	MFAP5	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	7048	TGFBR2	OMIM:610168
HP:0002011	Morphological central nervous system abnormality	7048	TGFBR2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	5921	RASA1	ORPHA:90307
HP:0002011	Morphological central nervous system abnormality	7042	TGFB2	OMIM:614816
HP:0002011	Morphological central nervous system abnormality	7042	TGFB2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	7046	TGFBR1	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4087	SMAD2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	7043	TGFB3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4089	SMAD4	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	59	ACTA2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	5592	PRKG1	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	2301	FOXE3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4144	MAT2A	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	23493	HEY2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4638	MYLK	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	2006	ELN	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	51057	WDPCP	ORPHA:1338
HP:0002011	Morphological central nervous system abnormality	79029	AFG2B	OMIM:619616
HP:0002011	Morphological central nervous system abnormality	80055	PGAP1	OMIM:615802
HP:0002011	Morphological central nervous system abnormality	22930	RAB3GAP1	OMIM:600118
HP:0002011	Morphological central nervous system abnormality	4361	MRE11	ORPHA:251347
HP:0002011	Morphological central nervous system abnormality	2271	FH	OMIM:606812
HP:0002011	Morphological central nervous system abnormality	2639	GCDH	ORPHA:25
HP:0002011	Morphological central nervous system abnormality	54805	CNNM2	OMIM:616418
HP:0002011	Morphological central nervous system abnormality	26005	C2CD3	ORPHA:434179
HP:0002011	Morphological central nervous system abnormality	3661	IRF3	OMIM:616532
HP:0002011	Morphological central nervous system abnormality	10535	RNASEH2A	OMIM:610333
HP:0002011	Morphological central nervous system abnormality	84153	RNASEH2C	OMIM:610329
HP:0002011	Morphological central nervous system abnormality	112476	PRRT2	ORPHA:569
HP:0002011	Morphological central nervous system abnormality	477	ATP1A2	ORPHA:569
HP:0002011	Morphological central nervous system abnormality	7187	TRAF3	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	81622	UNC93B1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	148022	TICAM1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	7098	TLR3	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	29110	TBK1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	23261	CAMTA1	OMIM:614756
HP:0002011	Morphological central nervous system abnormality	57094	CPA6	OMIM:614418
HP:0002011	Morphological central nervous system abnormality	10347	ABCA7	OMIM:608907
HP:0002011	Morphological central nervous system abnormality	1738	DLD	OMIM:246900
HP:0002012	Abnormality of the abdominal organs	8573	CASK	OMIM:300908
HP:0002012	Abnormality of the abdominal organs	2539	G6PD	OMIM:300908
HP:0002012	Abnormality of the abdominal organs	8942	KYNU	OMIM:236800
HP:0002012	Abnormality of the abdominal organs	2035	EPB41	ORPHA:288
HP:0002012	Abnormality of the abdominal organs	2035	EPB41	OMIM:611804
HP:0002012	Abnormality of the abdominal organs	2995	GYPC	ORPHA:288
HP:0002012	Abnormality of the abdominal organs	51594	NBAS	OMIM:616483
HP:0002012	Abnormality of the abdominal organs	5213	PFKM	OMIM:232800
HP:0002012	Abnormality of the abdominal organs	27429	HTRA2	OMIM:617248
HP:0002012	Abnormality of the abdominal organs	6006	RHCE	ORPHA:71275
HP:0002012	Abnormality of the abdominal organs	7167	TPI1	OMIM:615512
HP:0002012	Abnormality of the abdominal organs	763	CA5A	OMIM:615751
HP:0002012	Abnormality of the abdominal organs	11093	ADAMTS13	OMIM:274150
HP:0002012	Abnormality of the abdominal organs	7849	PAX8	ORPHA:95720
HP:0002012	Abnormality of the abdominal organs	7849	PAX8	ORPHA:95712
HP:0002012	Abnormality of the abdominal organs	7253	TSHR	ORPHA:95720
HP:0002012	Abnormality of the abdominal organs	5172	SLC26A4	ORPHA:95720
HP:0002012	Abnormality of the abdominal organs	8260	NAA10	OMIM:300855
HP:0002012	Abnormality of the abdominal organs	1482	NKX2-5	ORPHA:95712
HP:0002012	Abnormality of the abdominal organs	9493	KIF23	OMIM:105600
HP:0002012	Abnormality of the abdominal organs	286410	ATP11C	OMIM:301015
HP:0002012	Abnormality of the abdominal organs	10483	SEC23B	OMIM:224100
HP:0002012	Abnormality of the abdominal organs	51124	IER3IP1	OMIM:614231
HP:0002012	Abnormality of the abdominal organs	3098	HK1	OMIM:235700
HP:0002012	Abnormality of the abdominal organs	2215	FCGR3B	ORPHA:464370
HP:0002012	Abnormality of the abdominal organs	5449	POU1F1	OMIM:613038
HP:0002012	Abnormality of the abdominal organs	25974	MMACHC	ORPHA:79282
HP:0002012	Abnormality of the abdominal organs	28234	SLCO1B3	ORPHA:3111
HP:0002012	Abnormality of the abdominal organs	10599	SLCO1B1	ORPHA:3111
HP:0002012	Abnormality of the abdominal organs	7461	CLIP2	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	84277	DNAJC30	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	8468	FKBP6	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	5982	RFC2	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	2969	GTF2I	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	3984	LIMK1	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	9569	GTF2IRD1	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	155382	VPS37D	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	155368	METTL27	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	114049	BUD23	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	7458	EIF4H	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	84163	GTF2IRD2	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	9275	BCL7B	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	26608	TBL2	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	135886	TMEM270	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	9031	BAZ1B	ORPHA:904
HP:0002012	Abnormality of the abdominal organs	6340	SCNN1G	ORPHA:171876
HP:0002012	Abnormality of the abdominal organs	1760	DMPK	OMIM:160900
HP:0002012	Abnormality of the abdominal organs	8242	KDM5C	OMIM:300534
HP:0002012	Abnormality of the abdominal organs	81857	MED25	ORPHA:464738
HP:0002012	Abnormality of the abdominal organs	7386	UQCRFS1	OMIM:618775
HP:0002012	Abnormality of the abdominal organs	4204	MECP2	ORPHA:778
HP:0002012	Abnormality of the abdominal organs	55112	DYNC2I1	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	153241	CEP120	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	57560	IFT80	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	51626	DYNC2LI1	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	79659	DYNC2H1	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	89891	DYNC2I2	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	79809	TTC21B	ORPHA:474
HP:0002012	Abnormality of the abdominal organs	291	SLC25A4	ORPHA:254892
HP:0002012	Abnormality of the abdominal organs	5428	POLG	ORPHA:254892
HP:0002012	Abnormality of the abdominal organs	56652	TWNK	ORPHA:254892
HP:0002012	Abnormality of the abdominal organs	50484	RRM2B	ORPHA:254892
HP:0002012	Abnormality of the abdominal organs	1244	ABCC2	ORPHA:234
HP:0002012	Abnormality of the abdominal organs	55532	SLC30A10	ORPHA:309854
HP:0002012	Abnormality of the abdominal organs	23600	AMACR	OMIM:614307
HP:0002012	Abnormality of the abdominal organs	3028	HSD17B10	ORPHA:391457
HP:0002012	Abnormality of the abdominal organs	4552	MTRR	ORPHA:2169
HP:0002012	Abnormality of the abdominal organs	590	BCHE	ORPHA:132
HP:0002012	Abnormality of the abdominal organs	55670	PEX26	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5824	PEX19	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	8504	PEX3	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	9409	PEX16	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5190	PEX6	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	8799	PEX11B	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5830	PEX5	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5189	PEX1	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5193	PEX12	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5194	PEX13	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5195	PEX14	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	5192	PEX10	ORPHA:44
HP:0002012	Abnormality of the abdominal organs	6389	SDHA	ORPHA:44890
HP:0002012	Abnormality of the abdominal organs	6390	SDHB	ORPHA:44890
HP:0002012	Abnormality of the abdominal organs	6391	SDHC	ORPHA:44890
HP:0002012	Abnormality of the abdominal organs	5156	PDGFRA	ORPHA:44890
HP:0002012	Abnormality of the abdominal organs	3815	KIT	ORPHA:44890
HP:0002012	Abnormality of the abdominal organs	5155	PDGFB	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	9213	XPR1	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	5159	PDGFRB	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	57462	MYORG	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	6575	SLC20A2	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	58494	JAM2	ORPHA:1980
HP:0002012	Abnormality of the abdominal organs	3431	SP110	OMIM:235550
HP:0002012	Abnormality of the abdominal organs	64116	SLC39A8	ORPHA:468699
HP:0002012	Abnormality of the abdominal organs	29929	ALG6	ORPHA:79320
HP:0002012	Abnormality of the abdominal organs	10459	MAD2L2	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	7516	XRCC2	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	29089	UBE2T	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	55120	FANCL	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2175	FANCA	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2187	FANCB	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2176	FANCC	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2178	FANCE	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2188	FANCF	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2189	FANCG	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	5888	RAD51	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	5889	RAD51C	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	55159	RFWD3	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	83990	BRIP1	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	57697	FANCM	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	84464	SLX4	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	2072	ERCC4	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	55215	FANCI	ORPHA:84
HP:0002012	Abnormality of the abdominal organs	64127	NOD2	ORPHA:90340
HP:0002012	Abnormality of the abdominal organs	191	AHCY	ORPHA:88618
HP:0002012	Abnormality of the abdominal organs	4556	MT-TE	ORPHA:254864
HP:0002012	Abnormality of the abdominal organs	55687	TRMU	ORPHA:254864
HP:0002012	Abnormality of the abdominal organs	6499	SKIC2	ORPHA:84064
HP:0002012	Abnormality of the abdominal organs	23495	TNFRSF13B	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	4790	NFKB1	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	4791	NFKB2	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	115650	TNFRSF13C	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	1380	CR2	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	8742	TNFSF12	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	930	CD19	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	29851	ICOS	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	931	MS4A1	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	975	CD81	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	359948	IRF2BP2	ORPHA:1572
HP:0002012	Abnormality of the abdominal organs	5498	PPOX	ORPHA:79473
HP:0002012	Abnormality of the abdominal organs	54658	UGT1A1	ORPHA:79234
HP:0002012	Abnormality of the abdominal organs	94	ACVRL1	OMIM:600376
HP:0002012	Abnormality of the abdominal organs	94	ACVRL1	ORPHA:774
HP:0002012	Abnormality of the abdominal organs	2632	GBE1	OMIM:232500
HP:0002012	Abnormality of the abdominal organs	9414	TJP2	OMIM:615878
HP:0002012	Abnormality of the abdominal organs	1736	DKC1	OMIM:305000
HP:0002012	Abnormality of the abdominal organs	1736	DKC1	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	148738	HJV	OMIM:602390
HP:0002012	Abnormality of the abdominal organs	80270	HSD3B7	ORPHA:79301
HP:0002012	Abnormality of the abdominal organs	80270	HSD3B7	OMIM:607765
HP:0002012	Abnormality of the abdominal organs	2153	F5	OMIM:600880
HP:0002012	Abnormality of the abdominal organs	2153	F5	ORPHA:131
HP:0002012	Abnormality of the abdominal organs	3717	JAK2	OMIM:600880
HP:0002012	Abnormality of the abdominal organs	3717	JAK2	ORPHA:131
HP:0002012	Abnormality of the abdominal organs	6440	SFTPC	OMIM:178500
HP:0002012	Abnormality of the abdominal organs	727897	MUC5B	OMIM:178500
HP:0002012	Abnormality of the abdominal organs	729238	SFTPA2	OMIM:178500
HP:0002012	Abnormality of the abdominal organs	162	AP1B1	OMIM:242150
HP:0002012	Abnormality of the abdominal organs	26277	TINF2	OMIM:127550
HP:0002012	Abnormality of the abdominal organs	26277	TINF2	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	7012	TERC	OMIM:127550
HP:0002012	Abnormality of the abdominal organs	7012	TERC	OMIM:614743
HP:0002012	Abnormality of the abdominal organs	7012	TERC	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	1890	TYMP	ORPHA:298
HP:0002012	Abnormality of the abdominal organs	3980	LIG3	ORPHA:298
HP:0002012	Abnormality of the abdominal organs	25839	COG4	ORPHA:263501
HP:0002012	Abnormality of the abdominal organs	25839	COG4	OMIM:613489
HP:0002012	Abnormality of the abdominal organs	2022	ENG	OMIM:187300
HP:0002012	Abnormality of the abdominal organs	2022	ENG	ORPHA:774
HP:0002012	Abnormality of the abdominal organs	51218	GLRX5	OMIM:616860
HP:0002012	Abnormality of the abdominal organs	5277	PIGA	OMIM:300868
HP:0002012	Abnormality of the abdominal organs	650	BMP2	OMIM:235200
HP:0002012	Abnormality of the abdominal organs	2592	GALT	OMIM:230400
HP:0002012	Abnormality of the abdominal organs	7036	TFR2	OMIM:604250
HP:0002012	Abnormality of the abdominal organs	50615	IL21R	OMIM:615207
HP:0002012	Abnormality of the abdominal organs	3516	RBPJ	ORPHA:974
HP:0002012	Abnormality of the abdominal organs	57514	ARHGAP31	ORPHA:974
HP:0002012	Abnormality of the abdominal organs	57572	DOCK6	ORPHA:974
HP:0002012	Abnormality of the abdominal organs	285203	EOGT	ORPHA:974
HP:0002012	Abnormality of the abdominal organs	2658	GDF2	ORPHA:774
HP:0002012	Abnormality of the abdominal organs	811	CALR	ORPHA:131
HP:0002012	Abnormality of the abdominal organs	654	BMP6	ORPHA:465508
HP:0002012	Abnormality of the abdominal organs	445	ASS1	OMIM:215700
HP:0002012	Abnormality of the abdominal organs	84317	CCDC115	OMIM:616828
HP:0002012	Abnormality of the abdominal organs	2184	FAH	OMIM:276700
HP:0002012	Abnormality of the abdominal organs	112752	IFT43	OMIM:614099
HP:0002012	Abnormality of the abdominal organs	80169	CTC1	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	79650	USB1	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	55135	WRAP53	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	51750	RTEL1	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	4869	NPM1	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	5073	PARN	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	7298	TYMS	ORPHA:1775
HP:0002012	Abnormality of the abdominal organs	7389	UROD	OMIM:176100
HP:0002012	Abnormality of the abdominal organs	2235	FECH	ORPHA:79278
HP:0002012	Abnormality of the abdominal organs	4750	NEK1	OMIM:263520
HP:0002012	Abnormality of the abdominal organs	56623	INPP5E	OMIM:213300
HP:0002012	Abnormality of the abdominal organs	4233	MET	ORPHA:33402
HP:0002012	Abnormality of the abdominal organs	1499	CTNNB1	ORPHA:33402
HP:0002012	Abnormality of the abdominal organs	7015	TERT	OMIM:613989
HP:0002012	Abnormality of the abdominal organs	427	ASAH1	ORPHA:333
HP:0002012	Abnormality of the abdominal organs	1777	DNASE2	OMIM:619858
HP:0002012	Abnormality of the abdominal organs	54567	DLL4	OMIM:616589
HP:0002012	Abnormality of the abdominal organs	84100	ARL6	OMIM:209900
HP:0002012	Abnormality of the abdominal organs	84100	ARL6	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	79140	CCDC28B	OMIM:209900
HP:0002012	Abnormality of the abdominal organs	582	BBS1	OMIM:209900
HP:0002012	Abnormality of the abdominal organs	582	BBS1	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	5257	PHKB	ORPHA:79240
HP:0002012	Abnormality of the abdominal organs	55764	IFT122	OMIM:218330
HP:0002012	Abnormality of the abdominal organs	92482	BBIP1	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	49855	SCAPER	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	4867	NPHP1	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	51057	WDPCP	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	27241	BBS9	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	22954	TRIM32	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	79738	BBS10	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	123016	TTC8	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	583	BBS2	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	585	BBS4	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	8195	MKKS	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	54585	LZTFL1	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	55212	BBS7	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	166379	BBS12	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	10806	SDCCAG8	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	157657	CFAP418	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	129880	BBS5	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	80173	IFT74	ORPHA:110
HP:0002012	Abnormality of the abdominal organs	55768	NGLY1	OMIM:615273
HP:0002012	Abnormality of the abdominal organs	55651	NHP2	OMIM:224230
HP:0002012	Abnormality of the abdominal organs	55505	NOP10	OMIM:224230
HP:0002012	Abnormality of the abdominal organs	435	ASL	OMIM:207900
HP:0002012	Abnormality of the abdominal organs	3594	IL12RB1	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	23534	TNPO3	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	6689	SPIB	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	5450	POU2AF1	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	9966	TNFSF15	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	79258	MMEL1	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	3663	IRF5	ORPHA:186
HP:0002012	Abnormality of the abdominal organs	79991	STN1	OMIM:617341
HP:0002012	Abnormality of the abdominal organs	1356	CP	ORPHA:48818
HP:0002012	Abnormality of the abdominal organs	9371	KIF3B	OMIM:618955
HP:0002012	Abnormality of the abdominal organs	4351	MPI	ORPHA:79319
HP:0002012	Abnormality of the abdominal organs	4351	MPI	OMIM:602579
HP:0002012	Abnormality of the abdominal organs	178	AGL	OMIM:232400
HP:0002012	Abnormality of the abdominal organs	57817	HAMP	OMIM:613313
HP:0002012	Abnormality of the abdominal organs	5836	PYGL	ORPHA:369
HP:0002012	Abnormality of the abdominal organs	5825	ABCD3	OMIM:616278
HP:0002012	Abnormality of the abdominal organs	6888	TALDO1	OMIM:606003
HP:0002012	Abnormality of the abdominal organs	538	ATP7A	ORPHA:198
HP:0002012	Abnormality of the abdominal organs	5122	PCSK1	ORPHA:71528
HP:0002012	Abnormality of the abdominal organs	5828	PEX2	OMIM:614866
HP:0002012	Abnormality of the abdominal organs	85476	GFM1	OMIM:609060
HP:0002012	Abnormality of the abdominal organs	57539	WDR35	OMIM:613610
HP:0002012	Abnormality of the abdominal organs	5443	POMC	ORPHA:71526
HP:0002012	Abnormality of the abdominal organs	5443	POMC	OMIM:609734
HP:0002012	Abnormality of the abdominal organs	3032	HADHB	ORPHA:746
HP:0002012	Abnormality of the abdominal organs	3030	HADHA	ORPHA:746
HP:0002012	Abnormality of the abdominal organs	3030	HADHA	OMIM:609015
HP:0002012	Abnormality of the abdominal organs	9095	TBX19	OMIM:201400
HP:0002012	Abnormality of the abdominal organs	374879	ZNF699	OMIM:619488
HP:0002012	Abnormality of the abdominal organs	6288	SAA1	ORPHA:85445
HP:0002012	Abnormality of the abdominal organs	644	BLVRA	OMIM:614156
HP:0002012	Abnormality of the abdominal organs	23729	SHPK	ORPHA:440713
HP:0002012	Abnormality of the abdominal organs	9076	CLDN1	ORPHA:59303
HP:0002012	Abnormality of the abdominal organs	9076	CLDN1	OMIM:607626
HP:0002012	Abnormality of the abdominal organs	10551	AGR2	OMIM:620233
HP:0002012	Abnormality of the abdominal organs	55898	UNC45A	OMIM:619377
HP:0002012	Abnormality of the abdominal organs	79989	IFT56	OMIM:619534
HP:0002012	Abnormality of the abdominal organs	3930	LBR	OMIM:613471
HP:0002012	Abnormality of the abdominal organs	7019	TFAM	OMIM:617156
HP:0002012	Abnormality of the abdominal organs	3643	INSR	OMIM:246200
HP:0002012	Abnormality of the abdominal organs	11232	POLG2	OMIM:618528
HP:0002012	Abnormality of the abdominal organs	10616	RBCK1	OMIM:615895
HP:0002012	Abnormality of the abdominal organs	130589	GALM	ORPHA:570422
HP:0002012	Abnormality of the abdominal organs	383	ARG1	OMIM:207800
HP:0002012	Abnormality of the abdominal organs	284086	NEK8	OMIM:615415
HP:0002012	Abnormality of the abdominal organs	4853	NOTCH2	OMIM:610205
HP:0002012	Abnormality of the abdominal organs	26146	TRAF3IP1	OMIM:616629
HP:0002012	Abnormality of the abdominal organs	124454	EARS2	OMIM:614924
HP:0002012	Abnormality of the abdominal organs	203286	ANKS6	OMIM:615382
HP:0002012	Abnormality of the abdominal organs	57511	COG6	OMIM:614576
HP:0002012	Abnormality of the abdominal organs	51134	CEP83	OMIM:615862
HP:0002012	Abnormality of the abdominal organs	79053	ALG8	OMIM:608104
HP:0002012	Abnormality of the abdominal organs	1174	AP1S1	OMIM:609313
HP:0002012	Abnormality of the abdominal organs	26276	VPS33B	OMIM:620010
HP:0002012	Abnormality of the abdominal organs	4069	LYZ	OMIM:105200
HP:0002012	Abnormality of the abdominal organs	2243	FGA	OMIM:105200
HP:0002012	Abnormality of the abdominal organs	335	APOA1	OMIM:105200
HP:0002012	Abnormality of the abdominal organs	567	B2M	OMIM:105200
HP:0002012	Abnormality of the abdominal organs	10159	ATP6AP2	OMIM:301045
HP:0002012	Abnormality of the abdominal organs	3376	IARS1	OMIM:617093
HP:0002012	Abnormality of the abdominal organs	3376	IARS1	ORPHA:541423
HP:0002012	Abnormality of the abdominal organs	30061	SLC40A1	ORPHA:139491
HP:0002012	Abnormality of the abdominal organs	30061	SLC40A1	OMIM:606069
HP:0002012	Abnormality of the abdominal organs	229	ALDOB	OMIM:229600
HP:0002012	Abnormality of the abdominal organs	3033	HADH	OMIM:231530
HP:0002012	Abnormality of the abdominal organs	3033	HADH	ORPHA:71212
HP:0002012	Abnormality of the abdominal organs	11020	IFT27	OMIM:615996
HP:0002012	Abnormality of the abdominal organs	132	ADK	OMIM:614300
HP:0002012	Abnormality of the abdominal organs	60684	TRAPPC11	OMIM:615356
HP:0002012	Abnormality of the abdominal organs	60684	TRAPPC11	ORPHA:369840
HP:0002012	Abnormality of the abdominal organs	1355	COX15	OMIM:615119
HP:0002012	Abnormality of the abdominal organs	857	CAV1	OMIM:612526
HP:0002012	Abnormality of the abdominal organs	857	CAV1	ORPHA:528
HP:0002012	Abnormality of the abdominal organs	81570	CLPB	ORPHA:445038
HP:0002012	Abnormality of the abdominal organs	81570	CLPB	OMIM:616271
HP:0002012	Abnormality of the abdominal organs	51099	ABHD5	OMIM:275630
HP:0002012	Abnormality of the abdominal organs	51099	ABHD5	ORPHA:98907
HP:0002012	Abnormality of the abdominal organs	6718	AKR1D1	ORPHA:79303
HP:0002012	Abnormality of the abdominal organs	80222	TARS2	OMIM:615918
HP:0002012	Abnormality of the abdominal organs	6341	SCO1	OMIM:619048
HP:0002012	Abnormality of the abdominal organs	4141	MARS1	OMIM:615486
HP:0002012	Abnormality of the abdominal organs	8882	ZPR1	OMIM:619321
HP:0002012	Abnormality of the abdominal organs	3949	LDLR	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	255738	PCSK9	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	26119	LDLRAP1	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	338	APOB	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	64240	ABCG5	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	64241	ABCG8	ORPHA:391665
HP:0002012	Abnormality of the abdominal organs	4358	MPV17	OMIM:618400
HP:0002012	Abnormality of the abdominal organs	4358	MPV17	OMIM:256810
HP:0002012	Abnormality of the abdominal organs	34	ACADM	OMIM:201450
HP:0002012	Abnormality of the abdominal organs	34	ACADM	ORPHA:42
HP:0002012	Abnormality of the abdominal organs	5105	PCK1	OMIM:261680
HP:0002012	Abnormality of the abdominal organs	50619	DEF6	OMIM:619573
HP:0002012	Abnormality of the abdominal organs	208	AKT2	ORPHA:79085
HP:0002012	Abnormality of the abdominal organs	5346	PLIN1	OMIM:613877
HP:0002012	Abnormality of the abdominal organs	5346	PLIN1	ORPHA:280356
HP:0002012	Abnormality of the abdominal organs	84823	LMNB2	ORPHA:79087
HP:0002012	Abnormality of the abdominal organs	84823	LMNB2	OMIM:608709
HP:0002012	Abnormality of the abdominal organs	1581	CYP7A1	ORPHA:209902
HP:0002012	Abnormality of the abdominal organs	1716	DGUOK	OMIM:251880
HP:0002012	Abnormality of the abdominal organs	1717	DHCR7	OMIM:270400
HP:0002012	Abnormality of the abdominal organs	4547	MTTP	ORPHA:14
HP:0002012	Abnormality of the abdominal organs	6899	TBX1	OMIM:188400
HP:0002012	Abnormality of the abdominal organs	5424	POLD1	OMIM:615381
HP:0002012	Abnormality of the abdominal organs	8802	SUCLG1	ORPHA:17
HP:0002012	Abnormality of the abdominal organs	84984	CEP19	OMIM:615703
HP:0002012	Abnormality of the abdominal organs	2783	GNB2	OMIM:619503
HP:0002012	Abnormality of the abdominal organs	28976	ACAD9	ORPHA:99901
HP:0002012	Abnormality of the abdominal organs	5373	PMM2	OMIM:212065
HP:0002012	Abnormality of the abdominal organs	1588	CYP19A1	ORPHA:91
HP:0002012	Abnormality of the abdominal organs	37	ACADVL	OMIM:201475
HP:0002012	Abnormality of the abdominal organs	11222	MRPL3	OMIM:614582
HP:0002012	Abnormality of the abdominal organs	6711	SPTBN1	OMIM:619475
HP:0002012	Abnormality of the abdominal organs	3991	LIPE	ORPHA:435660
HP:0002012	Abnormality of the abdominal organs	3991	LIPE	OMIM:615980
HP:0002012	Abnormality of the abdominal organs	5566	PRKACA	ORPHA:189439
HP:0002012	Abnormality of the abdominal organs	8622	PDE8B	ORPHA:189439
HP:0002012	Abnormality of the abdominal organs	5573	PRKAR1A	ORPHA:189439
HP:0002012	Abnormality of the abdominal organs	51520	LARS1	OMIM:615438
HP:0002012	Abnormality of the abdominal organs	788	SLC25A20	OMIM:212138
HP:0002012	Abnormality of the abdominal organs	540	ATP7B	ORPHA:905
HP:0002012	Abnormality of the abdominal organs	540	ATP7B	OMIM:277900
HP:0002012	Abnormality of the abdominal organs	10056	FARSB	OMIM:613658
HP:0002012	Abnormality of the abdominal organs	10128	LRPPRC	ORPHA:70472
HP:0002012	Abnormality of the abdominal organs	2203	FBP1	ORPHA:348
HP:0002012	Abnormality of the abdominal organs	5106	PCK2	OMIM:261650
HP:0002012	Abnormality of the abdominal organs	79798	ARMC5	ORPHA:189427
HP:0002012	Abnormality of the abdominal organs	641	BLM	OMIM:210900
HP:0002012	Abnormality of the abdominal organs	64135	IFIH1	OMIM:615846
HP:0002012	Abnormality of the abdominal organs	7518	XRCC4	ORPHA:436182
HP:0002012	Abnormality of the abdominal organs	51128	SAR1B	ORPHA:71
HP:0002012	Abnormality of the abdominal organs	11128	POLR3A	ORPHA:3455
HP:0002012	Abnormality of the abdominal organs	617	BCS1L	OMIM:124000
HP:0002012	Abnormality of the abdominal organs	617	BCS1L	ORPHA:53693
HP:0002012	Abnormality of the abdominal organs	3178	HNRNPA1	ORPHA:52430
HP:0002012	Abnormality of the abdominal organs	7415	VCP	ORPHA:52430
HP:0002012	Abnormality of the abdominal organs	3181	HNRNPA2B1	ORPHA:52430
HP:0002012	Abnormality of the abdominal organs	1650	DDOST	ORPHA:300536
HP:0002012	Abnormality of the abdominal organs	2819	GPD1	OMIM:614480
HP:0002012	Abnormality of the abdominal organs	51081	MRPS7	OMIM:617872
HP:0002012	Abnormality of the abdominal organs	2193	FARSA	OMIM:619013
HP:0002012	Abnormality of the abdominal organs	1374	CPT1A	OMIM:255120
HP:0002012	Abnormality of the abdominal organs	5236	PGM1	OMIM:614921
HP:0002012	Abnormality of the abdominal organs	55005	RMND1	OMIM:614922
HP:0002012	Abnormality of the abdominal organs	3295	HSD17B4	OMIM:261515
HP:0002012	Abnormality of the abdominal organs	9757	KMT2B	OMIM:619934
HP:0002012	Abnormality of the abdominal organs	147007	TMEM199	OMIM:616829
HP:0002012	Abnormality of the abdominal organs	1376	CPT2	ORPHA:228305
HP:0002012	Abnormality of the abdominal organs	1376	CPT2	ORPHA:228308
HP:0002012	Abnormality of the abdominal organs	284119	CAVIN1	ORPHA:528
HP:0002012	Abnormality of the abdominal organs	284119	CAVIN1	OMIM:613327
HP:0002012	Abnormality of the abdominal organs	2353	FOS	ORPHA:528
HP:0002012	Abnormality of the abdominal organs	8813	DPM1	ORPHA:79322
HP:0002012	Abnormality of the abdominal organs	5256	PHKA2	ORPHA:264580
HP:0002012	Abnormality of the abdominal organs	5261	PHKG2	ORPHA:264580
HP:0002012	Abnormality of the abdominal organs	35	ACADS	ORPHA:26792
HP:0002012	Abnormality of the abdominal organs	2108	ETFA	OMIM:231680
HP:0002012	Abnormality of the abdominal organs	2109	ETFB	OMIM:231680
HP:0002012	Abnormality of the abdominal organs	2110	ETFDH	OMIM:231680
HP:0002012	Abnormality of the abdominal organs	83932	SPRTN	OMIM:616200
HP:0002012	Abnormality of the abdominal organs	3145	HMBS	OMIM:176000
HP:0002012	Abnormality of the abdominal organs	3145	HMBS	ORPHA:79276
HP:0002012	Abnormality of the abdominal organs	200931	SLC51A	OMIM:619484
HP:0002012	Abnormality of the abdominal organs	2271	FH	OMIM:606812
HP:0002012	Abnormality of the abdominal organs	164656	TMPRSS6	ORPHA:209981
HP:0002012	Abnormality of the abdominal organs	55610	VPS50	OMIM:619685
HP:0002012	Abnormality of the abdominal organs	7248	TSC1	ORPHA:805
HP:0002012	Abnormality of the abdominal organs	7249	TSC2	ORPHA:805
HP:0002012	Abnormality of the abdominal organs	125988	MICOS13	OMIM:618329
HP:0002012	Abnormality of the abdominal organs	50674	NEUROG3	ORPHA:83620
HP:0002012	Abnormality of the abdominal organs	51085	MLXIPL	OMIM:194050
HP:0002012	Abnormality of the abdominal organs	2006	ELN	OMIM:194050
HP:0002012	Abnormality of the abdominal organs	65080	MRPL44	OMIM:615395
HP:0002012	Abnormality of the abdominal organs	79587	CARS2	OMIM:616672
HP:0002012	Abnormality of the abdominal organs	131118	DNAJC19	OMIM:610198
HP:0002012	Abnormality of the abdominal organs	131118	DNAJC19	ORPHA:66634
HP:0002012	Abnormality of the abdominal organs	3071	NCKAP1L	OMIM:618982
HP:0002012	Abnormality of the abdominal organs	55823	VPS11	ORPHA:466934
HP:0002012	Abnormality of the abdominal organs	5880	RAC2	OMIM:618986
HP:0002012	Abnormality of the abdominal organs	79722	ANKRD55	ORPHA:85408
HP:0002012	Abnormality of the abdominal organs	3559	IL2RA	ORPHA:85408
HP:0002012	Abnormality of the abdominal organs	3559	IL2RA	OMIM:606367
HP:0002012	Abnormality of the abdominal organs	5771	PTPN2	ORPHA:85408
HP:0002012	Abnormality of the abdominal organs	2122	MECOM	OMIM:616738
HP:0002012	Abnormality of the abdominal organs	5476	CTSA	OMIM:256540
HP:0002012	Abnormality of the abdominal organs	9382	COG1	ORPHA:263508
HP:0002012	Abnormality of the abdominal organs	26154	ABCA12	OMIM:601277
HP:0002012	Abnormality of the abdominal organs	9051	PSTPIP1	OMIM:604416
HP:0002012	Abnormality of the abdominal organs	970	CD70	OMIM:618261
HP:0002012	Abnormality of the abdominal organs	3572	IL6ST	OMIM:619750
HP:0002012	Abnormality of the abdominal organs	8517	IKBKG	OMIM:301081
HP:0002012	Abnormality of the abdominal organs	5788	PTPRC	OMIM:619924
HP:0002012	Abnormality of the abdominal organs	5294	PIK3CG	OMIM:619802
HP:0002012	Abnormality of the abdominal organs	3718	JAK3	ORPHA:35078
HP:0002012	Abnormality of the abdominal organs	84868	HAVCR2	ORPHA:86884
HP:0002012	Abnormality of the abdominal organs	3458	IFNG	OMIM:618963
HP:0002012	Abnormality of the abdominal organs	1513	CTSK	ORPHA:763
HP:0002012	Abnormality of the abdominal organs	4609	MYC	ORPHA:543
HP:0002012	Abnormality of the abdominal organs	6023	RMRP	ORPHA:175
HP:0002012	Abnormality of the abdominal organs	7018	TF	ORPHA:1195
HP:0002012	Abnormality of the abdominal organs	9652	SKIC3	OMIM:222470
HP:0002012	Abnormality of the abdominal organs	8647	ABCB11	ORPHA:69665
HP:0002012	Abnormality of the abdominal organs	9971	NR1H4	ORPHA:69665
HP:0002012	Abnormality of the abdominal organs	2263	FGFR2	ORPHA:1555
HP:0002012	Abnormality of the abdominal organs	11231	SEC63	ORPHA:2924
HP:0002012	Abnormality of the abdominal organs	5589	PRKCSH	ORPHA:2924
HP:0002012	Abnormality of the abdominal organs	4041	LRP5	ORPHA:2924
HP:0002012	Abnormality of the abdominal organs	3239	HOXD13	ORPHA:887
HP:0002012	Abnormality of the abdominal organs	4594	MMUT	ORPHA:289916
HP:0002012	Abnormality of the abdominal organs	4594	MMUT	OMIM:251000
HP:0002012	Abnormality of the abdominal organs	4594	MMUT	ORPHA:79312
HP:0002012	Abnormality of the abdominal organs	26160	IFT172	OMIM:619471
HP:0002012	Abnormality of the abdominal organs	7840	ALMS1	ORPHA:64
HP:0002012	Abnormality of the abdominal organs	9056	SLC7A7	ORPHA:470
HP:0002012	Abnormality of the abdominal organs	9056	SLC7A7	OMIM:222700
HP:0002012	Abnormality of the abdominal organs	1629	DBT	OMIM:248600
HP:0002012	Abnormality of the abdominal organs	593	BCKDHA	OMIM:248600
HP:0002012	Abnormality of the abdominal organs	594	BCKDHB	OMIM:248600
HP:0002012	Abnormality of the abdominal organs	1493	CTLA4	ORPHA:900
HP:0002012	Abnormality of the abdominal organs	26191	PTPN22	ORPHA:900
HP:0002012	Abnormality of the abdominal organs	3115	HLA-DPB1	ORPHA:900
HP:0002012	Abnormality of the abdominal organs	5657	PRTN3	ORPHA:900
HP:0002012	Abnormality of the abdominal organs	3113	HLA-DPA1	ORPHA:900
HP:0002012	Abnormality of the abdominal organs	4023	LPL	OMIM:238600
HP:0002012	Abnormality of the abdominal organs	2542	SLC37A4	OMIM:232220
HP:0002012	Abnormality of the abdominal organs	2542	SLC37A4	ORPHA:79259
HP:0002012	Abnormality of the abdominal organs	4210	MEFV	ORPHA:342
HP:0002012	Abnormality of the abdominal organs	4210	MEFV	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	79577	CDC73	ORPHA:143
HP:0002012	Abnormality of the abdominal organs	79577	CDC73	ORPHA:99880
HP:0002012	Abnormality of the abdominal organs	57104	PNPLA2	ORPHA:565612
HP:0002012	Abnormality of the abdominal organs	5244	ABCB4	ORPHA:69663
HP:0002012	Abnormality of the abdominal organs	5244	ABCB4	OMIM:600803
HP:0002012	Abnormality of the abdominal organs	4722	NDUFS3	OMIM:618230
HP:0002012	Abnormality of the abdominal organs	63924	CIDEC	ORPHA:435651
HP:0002012	Abnormality of the abdominal organs	50485	SMARCAL1	ORPHA:1830
HP:0002012	Abnormality of the abdominal organs	50940	PDE11A	OMIM:610475
HP:0002012	Abnormality of the abdominal organs	10165	SLC25A13	OMIM:603471
HP:0002012	Abnormality of the abdominal organs	10165	SLC25A13	ORPHA:247585
HP:0002012	Abnormality of the abdominal organs	3106	HLA-B	ORPHA:36426
HP:0002012	Abnormality of the abdominal organs	3106	HLA-B	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	10320	IKZF1	ORPHA:36426
HP:0002012	Abnormality of the abdominal organs	2859	GPR35	ORPHA:171
HP:0002012	Abnormality of the abdominal organs	10507	SEMA4D	ORPHA:171
HP:0002012	Abnormality of the abdominal organs	4485	MST1	ORPHA:171
HP:0002012	Abnormality of the abdominal organs	6925	TCF4	ORPHA:171
HP:0002012	Abnormality of the abdominal organs	10273	STUB1	ORPHA:412057
HP:0002012	Abnormality of the abdominal organs	133686	NADK2	ORPHA:431361
HP:0002012	Abnormality of the abdominal organs	2538	G6PC1	OMIM:232200
HP:0002012	Abnormality of the abdominal organs	26007	TKFC	OMIM:618805
HP:0002012	Abnormality of the abdominal organs	5468	PPARG	ORPHA:79083
HP:0002012	Abnormality of the abdominal organs	875	CBS	OMIM:236200
HP:0002012	Abnormality of the abdominal organs	5095	PCCA	OMIM:606054
HP:0002012	Abnormality of the abdominal organs	5096	PCCB	OMIM:606054
HP:0002012	Abnormality of the abdominal organs	5205	ATP8B1	OMIM:243300
HP:0002012	Abnormality of the abdominal organs	2778	GNAS	ORPHA:562
HP:0002012	Abnormality of the abdominal organs	1175	AP2S1	OMIM:600740
HP:0002012	Abnormality of the abdominal organs	9054	NFS1	OMIM:619386
HP:0002012	Abnormality of the abdominal organs	64788	LMF1	OMIM:246650
HP:0002012	Abnormality of the abdominal organs	344	APOC2	OMIM:207750
HP:0002012	Abnormality of the abdominal organs	846	CASR	OMIM:145980
HP:0002012	Abnormality of the abdominal organs	2767	GNA11	OMIM:145981
HP:0002012	Abnormality of the abdominal organs	7388	UQCRH	OMIM:620137
HP:0002012	Abnormality of the abdominal organs	338328	GPIHBP1	OMIM:615947
HP:0002012	Abnormality of the abdominal organs	149233	IL23R	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	6775	STAT4	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	3586	IL10	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	1230	CCR1	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	3592	IL12A	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	101928376	IL12A-AS1	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	7099	TLR4	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	3459	IFNGR1	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	720	C4A	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	337867	UBAC2	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	51752	ERAP1	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	8302	KLRC4	ORPHA:117
HP:0002012	Abnormality of the abdominal organs	9401	RECQL4	OMIM:268400
HP:0002012	Abnormality of the abdominal organs	23387	SIK3	OMIM:618162
HP:0002012	Abnormality of the abdominal organs	2294	FOXF1	OMIM:265380
HP:0002012	Abnormality of the abdominal organs	2294	FOXF1	ORPHA:210122
HP:0002012	Abnormality of the abdominal organs	2177	FANCD2	OMIM:227646
HP:0002012	Abnormality of the abdominal organs	473	RERE	OMIM:616975
HP:0002012	Abnormality of the abdominal organs	473	RERE	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	222546	RFX6	OMIM:615710
HP:0002012	Abnormality of the abdominal organs	4613	MYCN	OMIM:164280
HP:0002012	Abnormality of the abdominal organs	9894	TELO2	ORPHA:488642
HP:0002012	Abnormality of the abdominal organs	5590	PRKCZ	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	2563	GABRD	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	23013	SPEN	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	8510	MMP23B	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	7798	LUZP1	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	6497	SKI	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	10630	PDPN	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	3339	HSPG2	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	10277	UBE4B	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	8514	KCNAB2	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	63976	PRDM16	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	54897	CASZ1	ORPHA:1606
HP:0002012	Abnormality of the abdominal organs	2313	FLI1	ORPHA:2308
HP:0002012	Abnormality of the abdominal organs	26040	SETBP1	ORPHA:798
HP:0002012	Abnormality of the abdominal organs	3155	HMGCL	ORPHA:20
HP:0002012	Abnormality of the abdominal organs	100147744	RNU7-1	OMIM:619487
HP:0002012	Abnormality of the abdominal organs	286053	NSMCE2	OMIM:617253
HP:0002012	Abnormality of the abdominal organs	4000	LMNA	OMIM:151660
HP:0002012	Abnormality of the abdominal organs	26580	BSCL2	OMIM:269700
HP:0002012	Abnormality of the abdominal organs	79415	CYBC1	OMIM:618935
HP:0002012	Abnormality of the abdominal organs	348	APOE	ORPHA:412
HP:0002012	Abnormality of the abdominal organs	10555	AGPAT2	OMIM:608594
HP:0002012	Abnormality of the abdominal organs	7428	VHL	ORPHA:892
HP:0002012	Abnormality of the abdominal organs	7428	VHL	OMIM:193300
HP:0002012	Abnormality of the abdominal organs	595	CCND1	ORPHA:892
HP:0002012	Abnormality of the abdominal organs	595	CCND1	OMIM:193300
HP:0002012	Abnormality of the abdominal organs	51726	DNAJB11	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	23193	GANAB	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	5310	PKD1	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	5311	PKD2	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	29880	ALG5	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	9742	IFT140	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	9742	IFT140	OMIM:266920
HP:0002012	Abnormality of the abdominal organs	79796	ALG9	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	80114	BICC1	ORPHA:730
HP:0002012	Abnormality of the abdominal organs	84314	TMEM107	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	26123	TCTN3	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	79867	TCTN2	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	80776	B9D2	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	79600	TCTN1	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	57096	RPGRIP1	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	79848	CSPP1	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	80184	CEP290	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	51259	TMEM216	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	57545	CC2D2A	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	79583	TMEM231	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	91147	TMEM67	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	79770	TXNDC15	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	27077	B9D1	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	23322	RPGRIP1L	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	54903	MKS1	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	65062	TMEM237	ORPHA:564
HP:0002012	Abnormality of the abdominal organs	27031	NPHP3	OMIM:267010
HP:0002012	Abnormality of the abdominal organs	27031	NPHP3	OMIM:208540
HP:0002012	Abnormality of the abdominal organs	57728	WDR19	OMIM:614377
HP:0002012	Abnormality of the abdominal organs	57728	WDR19	OMIM:616307
HP:0002012	Abnormality of the abdominal organs	169792	GLIS3	OMIM:610199
HP:0002012	Abnormality of the abdominal organs	63929	XPNPEP3	OMIM:613159
HP:0002012	Abnormality of the abdominal organs	9939	RBM8A	OMIM:274000
HP:0002012	Abnormality of the abdominal organs	3767	KCNJ11	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	8462	KLF11	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	2645	GCK	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	26060	APPL1	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	640	BLK	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	1056	CEL	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	1056	CEL	OMIM:609812
HP:0002012	Abnormality of the abdominal organs	4760	NEUROD1	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	6833	ABCC8	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	5078	PAX4	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	3172	HNF4A	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	6927	HNF1A	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	3630	INS	ORPHA:552
HP:0002012	Abnormality of the abdominal organs	170302	ARX	ORPHA:452
HP:0002012	Abnormality of the abdominal organs	22827	PUF60	ORPHA:508498
HP:0002012	Abnormality of the abdominal organs	22827	PUF60	ORPHA:508488
HP:0002012	Abnormality of the abdominal organs	1497	CTNS	OMIM:219800
HP:0002012	Abnormality of the abdominal organs	2212	FCGR2A	OMIM:219700
HP:0002012	Abnormality of the abdominal organs	7040	TGFB1	OMIM:219700
HP:0002012	Abnormality of the abdominal organs	7040	TGFB1	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	1080	CFTR	OMIM:219700
HP:0002012	Abnormality of the abdominal organs	1080	CFTR	OMIM:167800
HP:0002012	Abnormality of the abdominal organs	1080	CFTR	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	57003	CCDC47	OMIM:618268
HP:0002012	Abnormality of the abdominal organs	134218	DNAJC21	OMIM:617052
HP:0002012	Abnormality of the abdominal organs	134218	DNAJC21	OMIM:260400
HP:0002012	Abnormality of the abdominal organs	134218	DNAJC21	ORPHA:811
HP:0002012	Abnormality of the abdominal organs	54914	FOCAD	OMIM:619991
HP:0002012	Abnormality of the abdominal organs	8565	YARS1	OMIM:619418
HP:0002012	Abnormality of the abdominal organs	6774	STAT3	OMIM:615952
HP:0002012	Abnormality of the abdominal organs	5557	PRIM1	OMIM:620005
HP:0002012	Abnormality of the abdominal organs	8481	OFD1	ORPHA:2750
HP:0002012	Abnormality of the abdominal organs	9451	EIF2AK3	ORPHA:1667
HP:0002012	Abnormality of the abdominal organs	11330	CTRC	OMIM:167800
HP:0002012	Abnormality of the abdominal organs	6690	SPINK1	OMIM:167800
HP:0002012	Abnormality of the abdominal organs	5645	PRSS2	OMIM:167800
HP:0002012	Abnormality of the abdominal organs	5644	PRSS1	OMIM:167800
HP:0002012	Abnormality of the abdominal organs	197131	UBR1	ORPHA:2315
HP:0002012	Abnormality of the abdominal organs	197131	UBR1	OMIM:243800
HP:0002012	Abnormality of the abdominal organs	6804	STX1A	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	2947	GSTM3	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	2729	GCLC	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	1084	CEACAM3	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	6556	SLC11A1	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	51164	DCTN4	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	3783	KCNN4	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	4282	MIF	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	1909	EDNRA	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	6550	SLC9A3	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	3162	HMOX1	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	115019	SLC26A9	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	3077	HFE	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	11254	SLC6A14	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	5265	SERPINA1	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	22802	CLCA4	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	4680	CEACAM6	ORPHA:586
HP:0002012	Abnormality of the abdominal organs	8567	MADD	OMIM:619004
HP:0002012	Abnormality of the abdominal organs	6729	SRP54	OMIM:618752
HP:0002012	Abnormality of the abdominal organs	6729	SRP54	OMIM:260400
HP:0002012	Abnormality of the abdominal organs	6729	SRP54	ORPHA:811
HP:0002012	Abnormality of the abdominal organs	51119	SBDS	OMIM:260400
HP:0002012	Abnormality of the abdominal organs	51119	SBDS	ORPHA:811
HP:0002012	Abnormality of the abdominal organs	79631	EFL1	OMIM:617941
HP:0002012	Abnormality of the abdominal organs	79631	EFL1	ORPHA:811
HP:0002012	Abnormality of the abdominal organs	672	BRCA1	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	285282	RABL3	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	7157	TP53	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	675	BRCA2	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	3845	KRAS	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	1029	CDKN2A	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	79728	PALB2	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	4089	SMAD4	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	23022	PALLD	ORPHA:1333
HP:0002012	Abnormality of the abdominal organs	57570	TRMT5	OMIM:616539
HP:0002012	Abnormality of the abdominal organs	182	JAG1	OMIM:118450
HP:0002012	Abnormality of the abdominal organs	84701	COX4I2	OMIM:612714
HP:0002012	Abnormality of the abdominal organs	8091	HMGA2	ORPHA:94063
HP:0002012	Abnormality of the abdominal organs	23592	LEMD3	ORPHA:94063
HP:0002012	Abnormality of the abdominal organs	7293	TNFRSF4	OMIM:615593
HP:0002012	Abnormality of the abdominal organs	4860	PNP	OMIM:613179
HP:0002012	Abnormality of the abdominal organs	755	CFAP410	OMIM:602271
HP:0002012	Abnormality of the abdominal organs	84433	CARD11	OMIM:616452
HP:0002012	Abnormality of the abdominal organs	10730	YME1L1	OMIM:617302
HP:0002012	Abnormality of the abdominal organs	1441	CSF3R	OMIM:162830
HP:0002012	Abnormality of the abdominal organs	2623	GATA1	OMIM:314050
HP:0002012	Abnormality of the abdominal organs	2623	GATA1	ORPHA:231393
HP:0002012	Abnormality of the abdominal organs	2623	GATA1	ORPHA:79277
HP:0002012	Abnormality of the abdominal organs	80739	MPIG6B	OMIM:617441
HP:0002012	Abnormality of the abdominal organs	10019	SH2B3	OMIM:133100
HP:0002012	Abnormality of the abdominal organs	10019	SH2B3	ORPHA:3318
HP:0002012	Abnormality of the abdominal organs	10019	SH2B3	OMIM:187950
HP:0002012	Abnormality of the abdominal organs	10019	SH2B3	OMIM:254450
HP:0002012	Abnormality of the abdominal organs	2057	EPOR	OMIM:133100
HP:0002012	Abnormality of the abdominal organs	27125	AFF4	OMIM:616368
HP:0002012	Abnormality of the abdominal organs	22806	IKZF3	OMIM:619437
HP:0002012	Abnormality of the abdominal organs	6916	TBXAS1	ORPHA:1802
HP:0002012	Abnormality of the abdominal organs	5009	OTC	ORPHA:664
HP:0002012	Abnormality of the abdominal organs	7372	UMPS	ORPHA:30
HP:0002012	Abnormality of the abdominal organs	58484	NLRC4	OMIM:616050
HP:0002012	Abnormality of the abdominal organs	23218	NBEAL2	OMIM:139090
HP:0002012	Abnormality of the abdominal organs	23218	NBEAL2	ORPHA:721
HP:0002012	Abnormality of the abdominal organs	1312	COMT	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	221037	JMJD1C	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	2812	GP1BB	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	6239	RREB1	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	7290	HIRA	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	9632	SEC24C	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	7353	UFD1	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	421	ARVCF	ORPHA:567
HP:0002012	Abnormality of the abdominal organs	212	ALAS2	ORPHA:75563
HP:0002012	Abnormality of the abdominal organs	51095	TRNT1	OMIM:616084
HP:0002012	Abnormality of the abdominal organs	207	AKT1	ORPHA:744
HP:0002012	Abnormality of the abdominal organs	207	AKT1	OMIM:176920
HP:0002012	Abnormality of the abdominal organs	60468	BACH2	OMIM:618394
HP:0002012	Abnormality of the abdominal organs	91662	NLRP12	OMIM:611762
HP:0002012	Abnormality of the abdominal organs	5264	PHYH	ORPHA:773
HP:0002012	Abnormality of the abdominal organs	5191	PEX7	ORPHA:773
HP:0002012	Abnormality of the abdominal organs	4938	OAS1	OMIM:618042
HP:0002012	Abnormality of the abdominal organs	613	BCR	ORPHA:521
HP:0002012	Abnormality of the abdominal organs	25	ABL1	ORPHA:521
HP:0002012	Abnormality of the abdominal organs	7066	THPO	ORPHA:71493
HP:0002012	Abnormality of the abdominal organs	7066	THPO	OMIM:187950
HP:0002012	Abnormality of the abdominal organs	2811	GP1BA	OMIM:153670
HP:0002012	Abnormality of the abdominal organs	673	BRAF	OMIM:115150
HP:0002012	Abnormality of the abdominal organs	987	LRBA	OMIM:614700
HP:0002012	Abnormality of the abdominal organs	23149	FCHO1	OMIM:619164
HP:0002012	Abnormality of the abdominal organs	1352	COX10	OMIM:619046
HP:0002012	Abnormality of the abdominal organs	80216	ALPK1	OMIM:614979
HP:0002012	Abnormality of the abdominal organs	472	ATM	ORPHA:52416
HP:0002012	Abnormality of the abdominal organs	9508	ADAMTS3	ORPHA:2136
HP:0002012	Abnormality of the abdominal organs	147372	CCBE1	ORPHA:2136
HP:0002012	Abnormality of the abdominal organs	79633	FAT4	ORPHA:2136
HP:0002012	Abnormality of the abdominal organs	50628	GEMIN4	OMIM:617913
HP:0002012	Abnormality of the abdominal organs	219285	SAMD9L	ORPHA:2585
HP:0002012	Abnormality of the abdominal organs	5293	PIK3CD	OMIM:615513
HP:0002012	Abnormality of the abdominal organs	669	BPGM	OMIM:222800
HP:0002012	Abnormality of the abdominal organs	9948	WDR1	OMIM:150550
HP:0002012	Abnormality of the abdominal organs	2328	FMO3	OMIM:602079
HP:0002012	Abnormality of the abdominal organs	1718	DHCR24	ORPHA:35107
HP:0002012	Abnormality of the abdominal organs	27040	LAT	OMIM:617514
HP:0002012	Abnormality of the abdominal organs	10464	PIBF1	OMIM:617767
HP:0002012	Abnormality of the abdominal organs	27019	DNAI1	OMIM:244400
HP:0002012	Abnormality of the abdominal organs	27019	DNAI1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	55329	MNS1	OMIM:618948
HP:0002012	Abnormality of the abdominal organs	4087	SMAD2	OMIM:619657
HP:0002012	Abnormality of the abdominal organs	7473	WNT3	OMIM:273395
HP:0002012	Abnormality of the abdominal organs	84876	ORAI1	ORPHA:3204
HP:0002012	Abnormality of the abdominal organs	53335	BCL11A	ORPHA:251380
HP:0002012	Abnormality of the abdominal organs	25981	DNAH1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	115948	ODAD3	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	54768	HYDIN	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	352909	DNAAF3	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	27148	STK36	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	51314	NME8	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	92749	DRC1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	54970	TTC12	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	152110	NEK10	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	221421	RSPH9	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	85478	CCDC65	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	55036	CCDC40	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	51364	ZMYND10	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	64446	DNAI2	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	6674	SPAG1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	83544	DNAL1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	89765	RSPH1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	200373	CFAP221	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	374407	DNAJB13	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	55172	DNAAF2	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	161582	DNAAF4	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	2622	GAS8	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	23639	DNAAF11	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	345895	RSPH4A	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	6103	RPGR	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	388389	CCDC103	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	93233	ODAD1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	55130	ODAD2	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	1767	DNAH5	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	83861	RSPH3	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	345643	MCIDAS	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	56683	CFAP298	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	79925	SPEF2	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	10309	CCNO	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	115399	LRRC56	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	139212	DNAAF6	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	123872	DNAAF1	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	85016	CFAP300	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	339829	CCDC39	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	8701	DNAH11	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	1770	DNAH9	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	246176	GAS2L2	ORPHA:244
HP:0002012	Abnormality of the abdominal organs	9839	ZEB2	ORPHA:261537
HP:0002012	Abnormality of the abdominal organs	9839	ZEB2	ORPHA:261552
HP:0002012	Abnormality of the abdominal organs	7291	TWIST1	OMIM:617746
HP:0002012	Abnormality of the abdominal organs	3921	RPSA	OMIM:271400
HP:0002012	Abnormality of the abdominal organs	157570	ESCO2	OMIM:268300
HP:0002012	Abnormality of the abdominal organs	8425	LTBP4	OMIM:613177
HP:0002012	Abnormality of the abdominal organs	55012	PPP2R3C	OMIM:618419
HP:0002012	Abnormality of the abdominal organs	55770	EXOC2	OMIM:619306
HP:0002012	Abnormality of the abdominal organs	53834	FGFRL1	OMIM:194190
HP:0002012	Abnormality of the abdominal organs	1063	CENPF	OMIM:243605
HP:0002012	Abnormality of the abdominal organs	219844	HYLS1	OMIM:236680
HP:0002012	Abnormality of the abdominal organs	50937	CDON	OMIM:614226
HP:0002012	Abnormality of the abdominal organs	118856	MMP21	OMIM:616749
HP:0002012	Abnormality of the abdominal organs	51715	RAB23	OMIM:201000
HP:0002012	Abnormality of the abdominal organs	51715	RAB23	ORPHA:65759
HP:0002012	Abnormality of the abdominal organs	25790	CFAP45	OMIM:619608
HP:0002012	Abnormality of the abdominal organs	1954	MEGF8	ORPHA:65759
HP:0002012	Abnormality of the abdominal organs	9968	MED12	OMIM:301068
HP:0002012	Abnormality of the abdominal organs	171023	ASXL1	ORPHA:98850
HP:0002012	Abnormality of the abdominal organs	54790	TET2	ORPHA:98850
HP:0002012	Abnormality of the abdominal organs	867	CBL	ORPHA:98850
HP:0002012	Abnormality of the abdominal organs	861	RUNX1	ORPHA:98850
HP:0002012	Abnormality of the abdominal organs	6427	SRSF2	ORPHA:98850
HP:0002012	Abnormality of the abdominal organs	355	FAS	ORPHA:3261
HP:0002012	Abnormality of the abdominal organs	356	FASLG	ORPHA:3261
HP:0002012	Abnormality of the abdominal organs	5580	PRKCD	ORPHA:3261
HP:0002012	Abnormality of the abdominal organs	843	CASP10	ORPHA:3261
HP:0002012	Abnormality of the abdominal organs	10125	RASGRP1	ORPHA:3261
HP:0002012	Abnormality of the abdominal organs	6609	SMPD1	ORPHA:77293
HP:0002012	Abnormality of the abdominal organs	2629	GBA1	OMIM:230800
HP:0002012	Abnormality of the abdominal organs	2629	GBA1	ORPHA:77259
HP:0002012	Abnormality of the abdominal organs	3043	HBB	ORPHA:231226
HP:0002012	Abnormality of the abdominal organs	3043	HBB	ORPHA:231214
HP:0002012	Abnormality of the abdominal organs	83737	ITCH	OMIM:613385
HP:0002012	Abnormality of the abdominal organs	83737	ITCH	ORPHA:228426
HP:0002012	Abnormality of the abdominal organs	7289	TULP3	OMIM:619902
HP:0002012	Abnormality of the abdominal organs	3988	LIPA	OMIM:278000
HP:0002012	Abnormality of the abdominal organs	4851	NOTCH1	OMIM:616028
HP:0002012	Abnormality of the abdominal organs	199221	DZIP1L	ORPHA:731
HP:0002012	Abnormality of the abdominal organs	5314	PKHD1	ORPHA:731
HP:0002012	Abnormality of the abdominal organs	5660	PSAP	OMIM:610539
HP:0002012	Abnormality of the abdominal organs	950	SCARB2	ORPHA:77259
HP:0002012	Abnormality of the abdominal organs	5339	PLEC	ORPHA:79401
HP:0002012	Abnormality of the abdominal organs	2137	EXTL3	ORPHA:508533
HP:0002012	Abnormality of the abdominal organs	3561	IL2RG	ORPHA:276
HP:0002012	Abnormality of the abdominal organs	3561	IL2RG	OMIM:300400
HP:0002012	Abnormality of the abdominal organs	3561	IL2RG	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	6584	SLC22A5	ORPHA:158
HP:0002012	Abnormality of the abdominal organs	6584	SLC22A5	OMIM:212140
HP:0002012	Abnormality of the abdominal organs	54539	NDUFB11	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	25915	NDUFAF3	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	51103	NDUFAF1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	51103	NDUFAF1	OMIM:618234
HP:0002012	Abnormality of the abdominal organs	91942	NDUFAF2	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	51300	TIMMDC1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4716	NDUFB10	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4723	NDUFV1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	55572	FOXRED1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	284184	NDUFAF8	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	55863	TMEM126B	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4535	MT-ND1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4535	MT-ND1	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4537	MT-ND3	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4537	MT-ND3	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4729	NDUFV2	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4694	NDUFA1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4720	NDUFS2	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4724	NDUFS4	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4724	NDUFS4	OMIM:252010
HP:0002012	Abnormality of the abdominal organs	4726	NDUFS6	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4728	NDUFS8	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	79133	NDUFAF5	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	126328	NDUFA11	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4709	NDUFB3	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	80224	NUBPL	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	29078	NDUFAF4	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	374291	NDUFS7	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	374291	NDUFS7	OMIM:618224
HP:0002012	Abnormality of the abdominal organs	4700	NDUFA6	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4536	MT-ND2	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4536	MT-ND2	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4719	NDUFS1	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	4719	NDUFS1	OMIM:618226
HP:0002012	Abnormality of the abdominal organs	4715	NDUFB9	ORPHA:2609
HP:0002012	Abnormality of the abdominal organs	57128	LYRM4	OMIM:615595
HP:0002012	Abnormality of the abdominal organs	5728	PTEN	OMIM:605309
HP:0002012	Abnormality of the abdominal organs	1161	ERCC8	ORPHA:90324
HP:0002012	Abnormality of the abdominal organs	1161	ERCC8	ORPHA:90321
HP:0002012	Abnormality of the abdominal organs	1161	ERCC8	ORPHA:90322
HP:0002012	Abnormality of the abdominal organs	1161	ERCC8	OMIM:216400
HP:0002012	Abnormality of the abdominal organs	2074	ERCC6	ORPHA:90324
HP:0002012	Abnormality of the abdominal organs	2074	ERCC6	ORPHA:90321
HP:0002012	Abnormality of the abdominal organs	2074	ERCC6	ORPHA:90322
HP:0002012	Abnormality of the abdominal organs	2074	ERCC6	OMIM:133540
HP:0002012	Abnormality of the abdominal organs	55240	STEAP3	OMIM:615234
HP:0002012	Abnormality of the abdominal organs	19	ABCA1	OMIM:205400
HP:0002012	Abnormality of the abdominal organs	2720	GLB1	OMIM:230600
HP:0002012	Abnormality of the abdominal organs	2720	GLB1	OMIM:230650
HP:0002012	Abnormality of the abdominal organs	2720	GLB1	OMIM:230500
HP:0002012	Abnormality of the abdominal organs	2720	GLB1	OMIM:253010
HP:0002012	Abnormality of the abdominal organs	84334	COA8	ORPHA:436271
HP:0002012	Abnormality of the abdominal organs	51	ACOX1	ORPHA:2971
HP:0002012	Abnormality of the abdominal organs	51	ACOX1	OMIM:264470
HP:0002012	Abnormality of the abdominal organs	2067	ERCC1	ORPHA:90322
HP:0002012	Abnormality of the abdominal organs	4538	MT-ND4	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4567	MT-TL1	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4578	MT-TW	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4577	MT-TV	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4508	MT-ATP6	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4540	MT-ND5	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4541	MT-ND6	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	4566	MT-TK	ORPHA:255210
HP:0002012	Abnormality of the abdominal organs	939	CD27	OMIM:615122
HP:0002012	Abnormality of the abdominal organs	5184	PEPD	OMIM:170100
HP:0002012	Abnormality of the abdominal organs	5184	PEPD	ORPHA:742
HP:0002012	Abnormality of the abdominal organs	65082	VPS33A	OMIM:617303
HP:0002012	Abnormality of the abdominal organs	84936	ZFYVE19	OMIM:619849
HP:0002012	Abnormality of the abdominal organs	129563	DIS3L2	ORPHA:2849
HP:0002012	Abnormality of the abdominal organs	79158	GNPTAB	OMIM:252500
HP:0002012	Abnormality of the abdominal organs	7086	TKT	ORPHA:488618
HP:0002012	Abnormality of the abdominal organs	1536	CYBB	ORPHA:379
HP:0002012	Abnormality of the abdominal organs	1536	CYBB	OMIM:306400
HP:0002012	Abnormality of the abdominal organs	4688	NCF2	ORPHA:379
HP:0002012	Abnormality of the abdominal organs	4688	NCF2	OMIM:233710
HP:0002012	Abnormality of the abdominal organs	1535	CYBA	ORPHA:379
HP:0002012	Abnormality of the abdominal organs	1535	CYBA	OMIM:233690
HP:0002012	Abnormality of the abdominal organs	4689	NCF4	ORPHA:379
HP:0002012	Abnormality of the abdominal organs	653361	NCF1	ORPHA:379
HP:0002012	Abnormality of the abdominal organs	653361	NCF1	OMIM:233700
HP:0002012	Abnormality of the abdominal organs	6772	STAT1	OMIM:614162
HP:0002012	Abnormality of the abdominal organs	103	ADAR	OMIM:615010
HP:0002012	Abnormality of the abdominal organs	91869	RFT1	ORPHA:244310
HP:0002012	Abnormality of the abdominal organs	91869	RFT1	OMIM:612015
HP:0002012	Abnormality of the abdominal organs	55109	AGGF1	ORPHA:90308
HP:0002012	Abnormality of the abdominal organs	57231	SNX14	OMIM:616354
HP:0002012	Abnormality of the abdominal organs	28755	TRAC	OMIM:615387
HP:0002012	Abnormality of the abdominal organs	1371	CPOX	OMIM:618892
HP:0002012	Abnormality of the abdominal organs	1371	CPOX	OMIM:121300
HP:0002012	Abnormality of the abdominal organs	388962	BOLA3	OMIM:614299
HP:0002012	Abnormality of the abdominal organs	4645	MYO5B	OMIM:619868
HP:0002012	Abnormality of the abdominal organs	3039	HBA1	ORPHA:163596
HP:0002012	Abnormality of the abdominal organs	3039	HBA1	OMIM:613978
HP:0002012	Abnormality of the abdominal organs	3040	HBA2	ORPHA:163596
HP:0002012	Abnormality of the abdominal organs	3040	HBA2	OMIM:613978
HP:0002012	Abnormality of the abdominal organs	1186	CLCN7	OMIM:618541
HP:0002012	Abnormality of the abdominal organs	1186	CLCN7	ORPHA:667
HP:0002012	Abnormality of the abdominal organs	1186	CLCN7	OMIM:611490
HP:0002012	Abnormality of the abdominal organs	10661	KLF1	ORPHA:46532
HP:0002012	Abnormality of the abdominal organs	10661	KLF1	OMIM:613673
HP:0002012	Abnormality of the abdominal organs	3047	HBG1	ORPHA:46532
HP:0002012	Abnormality of the abdominal organs	3048	HBG2	ORPHA:46532
HP:0002012	Abnormality of the abdominal organs	3048	HBG2	OMIM:613977
HP:0002012	Abnormality of the abdominal organs	8482	SEMA7A	OMIM:619874
HP:0002012	Abnormality of the abdominal organs	2200	FBN1	OMIM:614185
HP:0002012	Abnormality of the abdominal organs	7381	UQCRB	OMIM:615158
HP:0002012	Abnormality of the abdominal organs	54440	SASH3	OMIM:301082
HP:0002012	Abnormality of the abdominal organs	2517	FUCA1	ORPHA:349
HP:0002012	Abnormality of the abdominal organs	2517	FUCA1	OMIM:230000
HP:0002012	Abnormality of the abdominal organs	285362	SUMF1	OMIM:272200
HP:0002012	Abnormality of the abdominal organs	285362	SUMF1	ORPHA:585
HP:0002012	Abnormality of the abdominal organs	166785	MMAA	OMIM:251100
HP:0002012	Abnormality of the abdominal organs	85365	ALG2	ORPHA:79326
HP:0002012	Abnormality of the abdominal organs	85365	ALG2	OMIM:607906
HP:0002012	Abnormality of the abdominal organs	4598	MVK	ORPHA:343
HP:0002012	Abnormality of the abdominal organs	64421	DCLRE1C	OMIM:603554
HP:0002012	Abnormality of the abdominal organs	64421	DCLRE1C	OMIM:602450
HP:0002012	Abnormality of the abdominal organs	64421	DCLRE1C	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	5896	RAG1	OMIM:603554
HP:0002012	Abnormality of the abdominal organs	5896	RAG1	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	5896	RAG1	ORPHA:331206
HP:0002012	Abnormality of the abdominal organs	5897	RAG2	OMIM:603554
HP:0002012	Abnormality of the abdominal organs	5897	RAG2	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	5897	RAG2	ORPHA:331206
HP:0002012	Abnormality of the abdominal organs	5551	PRF1	OMIM:603553
HP:0002012	Abnormality of the abdominal organs	5551	PRF1	ORPHA:540
HP:0002012	Abnormality of the abdominal organs	8676	STX11	OMIM:603552
HP:0002012	Abnormality of the abdominal organs	8676	STX11	ORPHA:540
HP:0002012	Abnormality of the abdominal organs	57169	ZNFX1	OMIM:619644
HP:0002012	Abnormality of the abdominal organs	11311	VPS45	OMIM:615285
HP:0002012	Abnormality of the abdominal organs	10991	SLC38A3	OMIM:619881
HP:0002012	Abnormality of the abdominal organs	7841	MOGS	ORPHA:79330
HP:0002012	Abnormality of the abdominal organs	7841	MOGS	OMIM:606056
HP:0002012	Abnormality of the abdominal organs	2683	B4GALT1	ORPHA:79332
HP:0002012	Abnormality of the abdominal organs	91949	COG7	ORPHA:79333
HP:0002012	Abnormality of the abdominal organs	91949	COG7	OMIM:608779
HP:0002012	Abnormality of the abdominal organs	38	ACAT1	ORPHA:134
HP:0002012	Abnormality of the abdominal organs	7030	TFE3	OMIM:301066
HP:0002012	Abnormality of the abdominal organs	2239	GPC4	ORPHA:373
HP:0002012	Abnormality of the abdominal organs	2239	GPC4	OMIM:312870
HP:0002012	Abnormality of the abdominal organs	2719	GPC3	ORPHA:373
HP:0002012	Abnormality of the abdominal organs	2719	GPC3	OMIM:312870
HP:0002012	Abnormality of the abdominal organs	23162	MAPK8IP3	OMIM:618443
HP:0002012	Abnormality of the abdominal organs	5692	PSMB4	OMIM:617591
HP:0002012	Abnormality of the abdominal organs	5698	PSMB9	OMIM:617591
HP:0002012	Abnormality of the abdominal organs	3423	IDS	OMIM:309900
HP:0002012	Abnormality of the abdominal organs	5286	PIK3C2A	OMIM:618440
HP:0002012	Abnormality of the abdominal organs	84168	ANTXR1	OMIM:230740
HP:0002012	Abnormality of the abdominal organs	51311	TLR8	OMIM:301078
HP:0002012	Abnormality of the abdominal organs	1616	DAXX	ORPHA:100075
HP:0002012	Abnormality of the abdominal organs	546	ATRX	ORPHA:100075
HP:0002012	Abnormality of the abdominal organs	4615	MYD88	ORPHA:33226
HP:0002012	Abnormality of the abdominal organs	6576	SLC25A1	OMIM:615182
HP:0002012	Abnormality of the abdominal organs	205327	C2orf69	OMIM:619423
HP:0002012	Abnormality of the abdominal organs	4633	MYL2	OMIM:619424
HP:0002012	Abnormality of the abdominal organs	3000	GUCY2D	OMIM:204000
HP:0002012	Abnormality of the abdominal organs	65992	DDRGK1	OMIM:602557
HP:0002012	Abnormality of the abdominal organs	6448	SGSH	OMIM:252900
HP:0002012	Abnormality of the abdominal organs	10466	COG5	ORPHA:263487
HP:0002012	Abnormality of the abdominal organs	54517	PUS7	OMIM:618342
HP:0002012	Abnormality of the abdominal organs	8818	DPM2	ORPHA:329178
HP:0002012	Abnormality of the abdominal organs	9842	PLEKHM1	OMIM:618107
HP:0002012	Abnormality of the abdominal organs	10102	TSFM	OMIM:610505
HP:0002012	Abnormality of the abdominal organs	23451	SF3B1	ORPHA:75564
HP:0002012	Abnormality of the abdominal organs	10312	TCIRG1	ORPHA:667
HP:0002012	Abnormality of the abdominal organs	10312	TCIRG1	OMIM:259700
HP:0002012	Abnormality of the abdominal organs	29887	SNX10	ORPHA:667
HP:0002012	Abnormality of the abdominal organs	29887	SNX10	OMIM:615085
HP:0002012	Abnormality of the abdominal organs	8600	TNFSF11	ORPHA:667
HP:0002012	Abnormality of the abdominal organs	201294	UNC13D	ORPHA:540
HP:0002012	Abnormality of the abdominal organs	6813	STXBP2	ORPHA:540
HP:0002012	Abnormality of the abdominal organs	55315	SLC29A3	OMIM:602782
HP:0002012	Abnormality of the abdominal organs	11277	TREX1	OMIM:225750
HP:0002012	Abnormality of the abdominal organs	4695	NDUFA2	OMIM:618235
HP:0002012	Abnormality of the abdominal organs	79868	ALG13	OMIM:300884
HP:0002012	Abnormality of the abdominal organs	22861	NLRP1	OMIM:617388
HP:0002012	Abnormality of the abdominal organs	55503	TRPV6	ORPHA:417
HP:0002012	Abnormality of the abdominal organs	1130	LYST	OMIM:214500
HP:0002012	Abnormality of the abdominal organs	10166	SLC25A15	ORPHA:415
HP:0002012	Abnormality of the abdominal organs	10166	SLC25A15	OMIM:238970
HP:0002012	Abnormality of the abdominal organs	114548	NLRP3	ORPHA:575
HP:0002012	Abnormality of the abdominal organs	114548	NLRP3	ORPHA:1451
HP:0002012	Abnormality of the abdominal organs	4125	MAN2B1	OMIM:248500
HP:0002012	Abnormality of the abdominal organs	3756	KCNH1	OMIM:135500
HP:0002012	Abnormality of the abdominal organs	3756	KCNH1	ORPHA:3473
HP:0002012	Abnormality of the abdominal organs	3394	IRF8	OMIM:226990
HP:0002012	Abnormality of the abdominal organs	11274	USP18	OMIM:617397
HP:0002012	Abnormality of the abdominal organs	4864	NPC1	OMIM:257220
HP:0002012	Abnormality of the abdominal organs	3158	HMGCS2	OMIM:605911
HP:0002012	Abnormality of the abdominal organs	112812	FDX2	OMIM:251900
HP:0002012	Abnormality of the abdominal organs	55630	SLC39A4	OMIM:201100
HP:0002012	Abnormality of the abdominal organs	6007	RHD	OMIM:619462
HP:0002012	Abnormality of the abdominal organs	55340	GIMAP5	OMIM:619463
HP:0002012	Abnormality of the abdominal organs	3560	IL2RB	OMIM:618495
HP:0002012	Abnormality of the abdominal organs	8883	NAE1	OMIM:620210
HP:0002012	Abnormality of the abdominal organs	60386	SLC25A19	ORPHA:99742
HP:0002012	Abnormality of the abdominal organs	60386	SLC25A19	OMIM:607196
HP:0002012	Abnormality of the abdominal organs	56244	BTNL2	ORPHA:797
HP:0002012	Abnormality of the abdominal organs	56244	BTNL2	OMIM:612387
HP:0002012	Abnormality of the abdominal organs	3123	HLA-DRB1	ORPHA:797
HP:0002012	Abnormality of the abdominal organs	3123	HLA-DRB1	ORPHA:85414
HP:0002012	Abnormality of the abdominal organs	3123	HLA-DRB1	OMIM:181000
HP:0002012	Abnormality of the abdominal organs	8943	AP3D1	OMIM:617050
HP:0002012	Abnormality of the abdominal organs	57061	HYMAI	ORPHA:96191
HP:0002012	Abnormality of the abdominal organs	5325	PLAGL1	ORPHA:96191
HP:0002012	Abnormality of the abdominal organs	570	BAAT	OMIM:619232
HP:0002012	Abnormality of the abdominal organs	94005	PIGS	OMIM:618143
HP:0002012	Abnormality of the abdominal organs	83706	FERMT3	OMIM:612840
HP:0002012	Abnormality of the abdominal organs	84665	MYPN	ORPHA:75249
HP:0002012	Abnormality of the abdominal organs	2318	FLNC	ORPHA:75249
HP:0002012	Abnormality of the abdominal organs	7139	TNNT2	ORPHA:75249
HP:0002012	Abnormality of the abdominal organs	7137	TNNI3	ORPHA:75249
HP:0002012	Abnormality of the abdominal organs	55636	CHD7	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	3981	LIG4	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	3981	LIG4	ORPHA:99812
HP:0002012	Abnormality of the abdominal organs	100	ADA	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	100	ADA	OMIM:102700
HP:0002012	Abnormality of the abdominal organs	3575	IL7R	ORPHA:39041
HP:0002012	Abnormality of the abdominal organs	3575	IL7R	OMIM:608971
HP:0002012	Abnormality of the abdominal organs	7504	XK	OMIM:300842
HP:0002012	Abnormality of the abdominal organs	374354	NHLRC2	OMIM:618278
HP:0002012	Abnormality of the abdominal organs	10651	MTX2	OMIM:619127
HP:0002012	Abnormality of the abdominal organs	226	ALDOA	OMIM:611881
HP:0002012	Abnormality of the abdominal organs	3557	IL1RN	OMIM:612852
HP:0002012	Abnormality of the abdominal organs	7284	TUFM	OMIM:610678
HP:0002012	Abnormality of the abdominal organs	2799	GNS	OMIM:252940
HP:0002012	Abnormality of the abdominal organs	940	CD28	ORPHA:3162
HP:0002012	Abnormality of the abdominal organs	940	CD28	ORPHA:2584
HP:0002012	Abnormality of the abdominal organs	7133	TNFRSF1B	ORPHA:3162
HP:0002012	Abnormality of the abdominal organs	7133	TNFRSF1B	ORPHA:2584
HP:0002012	Abnormality of the abdominal organs	7390	UROS	OMIM:263700
HP:0002012	Abnormality of the abdominal organs	8651	SOCS1	OMIM:619375
HP:0002012	Abnormality of the abdominal organs	9487	PIGL	OMIM:280000
HP:0002012	Abnormality of the abdominal organs	79651	RHBDF2	ORPHA:2198
HP:0002012	Abnormality of the abdominal organs	22800	RRAS2	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	8216	LZTR1	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	6016	RIT1	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	6237	RRAS	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	5894	RAF1	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	22808	MRAS	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	200734	SPRED2	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	4893	NRAS	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	4893	NRAS	OMIM:614470
HP:0002012	Abnormality of the abdominal organs	6654	SOS1	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	6655	SOS2	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	5781	PTPN11	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	5922	RASA2	ORPHA:648
HP:0002012	Abnormality of the abdominal organs	138050	HGSNAT	OMIM:252930
HP:0002012	Abnormality of the abdominal organs	10020	GNE	ORPHA:3166
HP:0002012	Abnormality of the abdominal organs	10020	GNE	OMIM:269921
HP:0002012	Abnormality of the abdominal organs	1719	DHFR	OMIM:613839
HP:0002012	Abnormality of the abdominal organs	64131	XYLT1	ORPHA:370930
HP:0002012	Abnormality of the abdominal organs	129285	PPP1R21	OMIM:619383
HP:0002012	Abnormality of the abdominal organs	1604	CD55	OMIM:226300
HP:0002012	Abnormality of the abdominal organs	146059	CDAN1	OMIM:224120
HP:0002012	Abnormality of the abdominal organs	10535	RNASEH2A	OMIM:610333
HP:0002012	Abnormality of the abdominal organs	5696	PSMB8	OMIM:256040
HP:0002012	Abnormality of the abdominal organs	4669	NAGLU	OMIM:252920
HP:0002012	Abnormality of the abdominal organs	27183	VPS4A	OMIM:619273
HP:0002012	Abnormality of the abdominal organs	144811	LACC1	ORPHA:85414
HP:0002012	Abnormality of the abdominal organs	3569	IL6	ORPHA:85414
HP:0002012	Abnormality of the abdominal organs	6309	SC5D	ORPHA:46059
HP:0002012	Abnormality of the abdominal organs	4574	MT-TS1	OMIM:220110
HP:0002012	Abnormality of the abdominal organs	4570	MT-TN	OMIM:220110
HP:0002012	Abnormality of the abdominal organs	6834	SURF1	OMIM:220110
HP:0002012	Abnormality of the abdominal organs	83700	JAM3	OMIM:613730
HP:0002012	Abnormality of the abdominal organs	4352	MPL	ORPHA:824
HP:0002012	Abnormality of the abdominal organs	4352	MPL	ORPHA:729
HP:0002012	Abnormality of the abdominal organs	8854	ALDH1A2	OMIM:620025
HP:0002012	Abnormality of the abdominal organs	4758	NEU1	OMIM:256550
HP:0002012	Abnormality of the abdominal organs	4758	NEU1	ORPHA:93399
HP:0002012	Abnormality of the abdominal organs	4758	NEU1	ORPHA:93400
HP:0002012	Abnormality of the abdominal organs	2038	EPB42	ORPHA:822
HP:0002012	Abnormality of the abdominal organs	6521	SLC4A1	ORPHA:822
HP:0002012	Abnormality of the abdominal organs	6710	SPTB	ORPHA:822
HP:0002012	Abnormality of the abdominal organs	6708	SPTA1	ORPHA:822
HP:0002012	Abnormality of the abdominal organs	286	ANK1	ORPHA:822
HP:0002012	Abnormality of the abdominal organs	54968	TMEM70	ORPHA:1194
HP:0002012	Abnormality of the abdominal organs	2130	EWSR1	ORPHA:83469
HP:0002012	Abnormality of the abdominal organs	7490	WT1	ORPHA:83469
HP:0002012	Abnormality of the abdominal organs	6392	SDHD	OMIM:619167
HP:0002012	Abnormality of the abdominal organs	79947	DHDDS	OMIM:613861
HP:0002012	Abnormality of the abdominal organs	55788	LMBRD1	OMIM:277380
HP:0002012	Abnormality of the abdominal organs	10225	CD96	OMIM:211750
HP:0002012	Abnormality of the abdominal organs	7535	ZAP70	OMIM:269840
HP:0002012	Abnormality of the abdominal organs	84987	COX14	OMIM:619053
HP:0002012	Abnormality of the abdominal organs	6005	RHAG	OMIM:185000
HP:0002012	Abnormality of the abdominal organs	1738	DLD	ORPHA:2394
HP:0002012	Abnormality of the abdominal organs	1738	DLD	OMIM:246900
HP:0002012	Abnormality of the abdominal organs	5699	PSMB10	OMIM:619175
HP:0002012	Abnormality of the abdominal organs	92579	G6PC3	OMIM:612541
HP:0002012	Abnormality of the abdominal organs	9927	MFN2	ORPHA:2398
HP:0002012	Abnormality of the abdominal organs	686	BTD	OMIM:253260
HP:0002012	Abnormality of the abdominal organs	8792	TNFRSF11A	OMIM:612301
HP:0002012	Abnormality of the abdominal organs	7132	TNFRSF1A	OMIM:142680
HP:0002012	Abnormality of the abdominal organs	55858	TMEM165	OMIM:614727
HP:0002012	Abnormality of the abdominal organs	8546	AP3B1	OMIM:608233
HP:0002012	Abnormality of the abdominal organs	5313	PKLR	OMIM:266200
HP:0002012	Abnormality of the abdominal organs	56984	PSMG2	OMIM:619183
HP:0002012	Abnormality of the abdominal organs	23116	TOGARAM1	OMIM:619185
HP:0002012	Abnormality of the abdominal organs	9377	COX5A	OMIM:619064
HP:0002012	Abnormality of the abdominal organs	4591	TRIM37	OMIM:253250
HP:0002012	Abnormality of the abdominal organs	4591	TRIM37	ORPHA:2576
HP:0002012	Abnormality of the abdominal organs	23230	VPS13A	ORPHA:2388
HP:0002012	Abnormality of the abdominal organs	63894	VIPAS39	OMIM:613404
HP:0002012	Abnormality of the abdominal organs	526	ATP6V1B2	ORPHA:3473
HP:0002012	Abnormality of the abdominal organs	3782	KCNN3	ORPHA:3473
HP:0002012	Abnormality of the abdominal organs	3425	IDUA	OMIM:607014
HP:0002012	Abnormality of the abdominal organs	3425	IDUA	OMIM:607015
HP:0002012	Abnormality of the abdominal organs	3425	IDUA	ORPHA:93474
HP:0002012	Abnormality of the abdominal organs	3425	IDUA	ORPHA:93473
HP:0002012	Abnormality of the abdominal organs	3425	IDUA	ORPHA:93476
HP:0002012	Abnormality of the abdominal organs	175	AGA	ORPHA:93
HP:0002012	Abnormality of the abdominal organs	175	AGA	OMIM:208400
HP:0002012	Abnormality of the abdominal organs	374393	FAM111B	OMIM:615704
HP:0002012	Abnormality of the abdominal organs	1798	DPAGT1	ORPHA:86309
HP:0002012	Abnormality of the abdominal organs	5091	PC	OMIM:266150
HP:0002012	Abnormality of the abdominal organs	4607	MYBPC3	OMIM:115197
HP:0002012	Abnormality of the abdominal organs	51660	MPC1	OMIM:614741
HP:0002012	Abnormality of the abdominal organs	4519	MT-CYB	ORPHA:137675
HP:0002012	Abnormality of the abdominal organs	9719	ADAMTSL2	OMIM:231050
HP:0002012	Abnormality of the abdominal organs	2624	GATA2	ORPHA:3226
HP:0002012	Abnormality of the abdominal organs	2548	GAA	ORPHA:308552
HP:0002012	Abnormality of the abdominal organs	2548	GAA	OMIM:232300
HP:0002012	Abnormality of the abdominal organs	3662	IRF4	ORPHA:3452
HP:0002012	Abnormality of the abdominal organs	388015	RTL1	ORPHA:96334
HP:0002012	Abnormality of the abdominal organs	8788	DLK1	ORPHA:96334
HP:0002012	Abnormality of the abdominal organs	55384	MEG3	ORPHA:96334
HP:0002012	Abnormality of the abdominal organs	3911	LAMA5	OMIM:620076
HP:0002012	Abnormality of the abdominal organs	55343	SLC35C1	ORPHA:99843
HP:0002012	Abnormality of the abdominal organs	8314	BAP1	ORPHA:50251
HP:0002012	Abnormality of the abdominal organs	1028	CDKN1C	OMIM:130650
HP:0002012	Abnormality of the abdominal organs	10984	KCNQ1OT1	OMIM:130650
HP:0002012	Abnormality of the abdominal organs	3481	IGF2	OMIM:130650
HP:0002012	Abnormality of the abdominal organs	3784	KCNQ1	OMIM:130650
HP:0002012	Abnormality of the abdominal organs	162417	NAGS	ORPHA:927
HP:0002012	Abnormality of the abdominal organs	28962	OSTM1	OMIM:259720
HP:0002012	Abnormality of the abdominal organs	10568	SLC34A2	ORPHA:60025
HP:0002012	Abnormality of the abdominal organs	51067	YARS2	OMIM:613561
HP:0002012	Abnormality of the abdominal organs	93183	PIGM	OMIM:610293
HP:0002012	Abnormality of the abdominal organs	7351	UCP2	ORPHA:276556
HP:0002012	Abnormality of the abdominal organs	56052	ALG1	OMIM:608540
HP:0002012	Abnormality of the abdominal organs	4054	LTBP3	OMIM:617809
HP:0002012	Abnormality of the abdominal organs	84529	CDIN1	OMIM:615631
HP:0002012	Abnormality of the abdominal organs	11133	KPTN	OMIM:615637
HP:0002012	Abnormality of the abdominal organs	6948	TCN2	OMIM:275350
HP:0002012	Abnormality of the abdominal organs	1776	DNASE1L3	ORPHA:36412
HP:0002012	Abnormality of the abdominal organs	9780	PIEZO1	OMIM:194380
HP:0002012	Abnormality of the abdominal organs	4173	MCM4	OMIM:609981
HP:0002012	Abnormality of the abdominal organs	411	ARSB	OMIM:253200
HP:0002012	Abnormality of the abdominal organs	55593	OTUD5	OMIM:301056
HP:0002012	Abnormality of the abdominal organs	3074	HEXB	OMIM:268800
HP:0002012	Abnormality of the abdominal organs	549	AUH	ORPHA:67046
HP:0002012	Abnormality of the abdominal organs	10525	HYOU1	OMIM:233600
HP:0002012	Abnormality of the abdominal organs	4792	NFKBIA	OMIM:612132
HP:0002012	Abnormality of the abdominal organs	6513	SLC2A1	OMIM:608885
HP:0002012	Abnormality of the abdominal organs	9663	LPIN2	ORPHA:77297
HP:0002012	Abnormality of the abdominal organs	6097	RORC	OMIM:616622
HP:0002012	Abnormality of the abdominal organs	6663	SOX10	ORPHA:163746
HP:0002012	Abnormality of the abdominal organs	708	C1QBP	OMIM:617713
HP:0002012	Abnormality of the abdominal organs	3248	HPGD	ORPHA:2796
HP:0002012	Abnormality of the abdominal organs	6578	SLCO2A1	ORPHA:2796
HP:0002012	Abnormality of the abdominal organs	91647	ATPAF2	OMIM:604273
HP:0002012	Abnormality of the abdominal organs	84061	MAGT1	OMIM:301031
HP:0002012	Abnormality of the abdominal organs	55210	ATAD3A	OMIM:618810
HP:0002012	Abnormality of the abdominal organs	326625	MMAB	OMIM:251110
HP:0002012	Abnormality of the abdominal organs	5873	RAB27A	ORPHA:79477
HP:0002012	Abnormality of the abdominal organs	760	CA2	ORPHA:2785
HP:0002012	Abnormality of the abdominal organs	2584	GALK1	ORPHA:79237
HP:0002012	Abnormality of the abdominal organs	9997	SCO2	OMIM:604377
HP:0002012	Abnormality of the abdominal organs	10367	MICU1	OMIM:615673
HP:0002012	Abnormality of the abdominal organs	3702	ITK	OMIM:613011
HP:0002012	Abnormality of the abdominal organs	2588	GALNS	OMIM:253000
HP:0002012	Abnormality of the abdominal organs	2065	ERBB3	OMIM:133180
HP:0002012	Abnormality of the abdominal organs	26047	CNTNAP2	ORPHA:163681
HP:0002012	Abnormality of the abdominal organs	200894	ARL13B	OMIM:612291
HP:0002012	Abnormality of the abdominal organs	100151683	RNU4ATAC	OMIM:616651
HP:0002012	Abnormality of the abdominal organs	51816	ADA2	OMIM:615688
HP:0002012	Abnormality of the abdominal organs	28957	MRPS28	OMIM:618958
HP:0002012	Abnormality of the abdominal organs	3931	LCAT	ORPHA:79292
HP:0002012	Abnormality of the abdominal organs	100506658	OCLN	OMIM:251290
HP:0002012	Abnormality of the abdominal organs	27232	GNMT	OMIM:606664
HP:0002012	Abnormality of the abdominal organs	10577	NPC2	OMIM:607625
HP:0002012	Abnormality of the abdominal organs	26503	SLC17A5	OMIM:269920
HP:0002012	Abnormality of the abdominal organs	2990	GUSB	OMIM:253220
HP:0002012	Abnormality of the abdominal organs	4668	NAGA	ORPHA:79281
HP:0002012	Abnormality of the abdominal organs	4668	NAGA	ORPHA:79279
HP:0002012	Abnormality of the abdominal organs	2639	GCDH	OMIM:231670
HP:0002012	Abnormality of the abdominal organs	8737	RIPK1	OMIM:618852
HP:0002012	Abnormality of the abdominal organs	3636	INPPL1	ORPHA:2746
HP:0002012	Abnormality of the abdominal organs	1794	DOCK2	OMIM:616433
HP:0002012	Abnormality of the abdominal organs	2582	GALE	OMIM:230350
HP:0002012	Abnormality of the abdominal organs	8518	ELP1	ORPHA:1764
HP:0002012	Abnormality of the abdominal organs	4665	NAB2	ORPHA:2126
HP:0002012	Abnormality of the abdominal organs	6778	STAT6	ORPHA:2126
HP:0002012	Abnormality of the abdominal organs	596	BCL2	ORPHA:545
HP:0002012	Abnormality of the abdominal organs	3492	IGH	ORPHA:545
HP:0002012	Abnormality of the abdominal organs	604	BCL6	ORPHA:545
HP:0002012	Abnormality of the abdominal organs	4629	MYH11	OMIM:619351
HP:0002012	Abnormality of the abdominal organs	629	CFB	OMIM:615561
HP:0002012	Abnormality of the abdominal organs	1991	ELANE	ORPHA:2686
HP:0002012	Abnormality of the abdominal organs	4868	NPHS1	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	23607	CD2AP	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	9688	NUP93	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	4643	MYO1E	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	64423	INF2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	26130	GAPVD1	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	57122	NUP107	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	51479	ANKFY1	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	54443	ANLN	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	5800	PTPRO	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	286204	CRB2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	23165	NUP205	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	2013	EMP2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	79023	NUP37	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	51196	PLCE1	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	79902	NUP85	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	1285	COL4A3	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	396	ARHGDIA	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	79934	COQ8B	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	23279	NUP160	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	9863	MAGI2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	81	ACTN4	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	7225	TRPC6	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	8542	APOL1	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	54885	TBC1D8B	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	7827	NPHS2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	83478	ARHGAP24	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	23500	DAAM2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	5076	PAX2	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	55746	NUP133	ORPHA:656
HP:0002012	Abnormality of the abdominal organs	105371045	PERCC1	ORPHA:92050
HP:0002012	Abnormality of the abdominal organs	10908	PNPLA6	ORPHA:2377
HP:0002012	Abnormality of the abdominal organs	9657	IQCB1	ORPHA:3156
HP:0002012	Abnormality of the abdominal organs	27130	INVS	ORPHA:3156
HP:0002012	Abnormality of the abdominal organs	261734	NPHP4	ORPHA:3156
HP:0002012	Abnormality of the abdominal organs	22897	CEP164	ORPHA:3156
HP:0002012	Abnormality of the abdominal organs	324	APC	ORPHA:261584
HP:0002012	Abnormality of the abdominal organs	324	APC	ORPHA:99818
HP:0002012	Abnormality of the abdominal organs	324	APC	OMIM:175100
HP:0002012	Abnormality of the abdominal organs	324	APC	ORPHA:79665
HP:0002012	Abnormality of the abdominal organs	6597	SMARCA4	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6598	SMARCB1	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6659	SOX4	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	8289	ARID1A	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	5977	DPF2	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6601	SMARCC2	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6602	SMARCD1	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	57492	ARID1B	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	196528	ARID2	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6605	SMARCE1	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	6664	SOX11	ORPHA:1465
HP:0002012	Abnormality of the abdominal organs	4854	NOTCH3	ORPHA:2591
HP:0002012	Abnormality of the abdominal organs	4193	MDM2	ORPHA:524
HP:0002012	Abnormality of the abdominal organs	11200	CHEK2	ORPHA:524
HP:0002012	Abnormality of the abdominal organs	11200	CHEK2	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	5892	RAD51D	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	10111	RAD50	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	580	BARD1	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	4683	NBN	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	4361	MRE11	ORPHA:145
HP:0002012	Abnormality of the abdominal organs	4286	MITF	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	1019	CDK4	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	4255	MGMT	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	54386	TERF2IP	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	4157	MC1R	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	65057	ACD	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	25913	POT1	ORPHA:618
HP:0002012	Abnormality of the abdominal organs	1188	CLCNKB	ORPHA:358
HP:0002012	Abnormality of the abdominal organs	6559	SLC12A3	ORPHA:358
HP:0002012	Abnormality of the abdominal organs	65998	ZFTA	ORPHA:251636
HP:0002012	Abnormality of the abdominal organs	5970	RELA	ORPHA:251636
HP:0002012	Abnormality of the abdominal organs	5978	REST	ORPHA:654
HP:0002012	Abnormality of the abdominal organs	9319	TRIP13	ORPHA:654
HP:0002012	Abnormality of the abdominal organs	10155	TRIM28	ORPHA:654
HP:0002012	Abnormality of the abdominal organs	11281	POU6F2	ORPHA:654
HP:0002012	Abnormality of the abdominal organs	283120	H19	ORPHA:654
HP:0002012	Abnormality of the abdominal organs	7547	ZIC3	OMIM:306955
HP:0002012	Abnormality of the abdominal organs	10815	CPLX1	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	54872	PIGG	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	7469	NELFA	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	1487	CTBP1	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	3954	LETM1	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	7468	NSD2	ORPHA:280
HP:0002012	Abnormality of the abdominal organs	90416	CCDC32	OMIM:619123
HP:0002012	Abnormality of the abdominal organs	168507	PKD1L1	OMIM:617205
HP:0002012	Abnormality of the abdominal organs	146845	CFAP52	OMIM:619607
HP:0002012	Abnormality of the abdominal organs	72	ACTG2	ORPHA:2604
HP:0002012	Abnormality of the abdominal organs	2302	FOXJ1	OMIM:618699
HP:0002012	Abnormality of the abdominal organs	220136	CFAP53	OMIM:614779
HP:0002012	Abnormality of the abdominal organs	55997	CFC1	OMIM:605376
HP:0002012	Abnormality of the abdominal organs	4838	NODAL	OMIM:270100
HP:0002012	Abnormality of the abdominal organs	6566	SLC16A1	OMIM:610021
HP:0002012	Abnormality of the abdominal organs	10068	IL18BP	OMIM:618549
HP:0002012	Abnormality of the abdominal organs	3875	KRT18	OMIM:215600
HP:0002012	Abnormality of the abdominal organs	331	XIAP	OMIM:308240
HP:0002012	Abnormality of the abdominal organs	4068	SH2D1A	OMIM:308240
HP:0002012	Abnormality of the abdominal organs	9361	LONP1	ORPHA:1458
HP:0002012	Abnormality of the abdominal organs	145173	B3GLCT	OMIM:261540
HP:0002012	Abnormality of the abdominal organs	7174	TPP2	OMIM:619220
HP:0002012	Abnormality of the abdominal organs	54809	SAMD9	OMIM:617053
HP:0002012	Abnormality of the abdominal organs	55388	MCM10	OMIM:619313
HP:0002012	Abnormality of the abdominal organs	5649	RELN	ORPHA:89844
HP:0002012	Abnormality of the abdominal organs	10300	KATNB1	ORPHA:89844
HP:0002012	Abnormality of the abdominal organs	54820	NDE1	ORPHA:89844
HP:0002012	Abnormality of the abdominal organs	63901	FAM111A	OMIM:602361
HP:0002012	Abnormality of the abdominal organs	6786	STIM1	OMIM:185070
HP:0002012	Abnormality of the abdominal organs	2710	GK	OMIM:307030
HP:0002012	Abnormality of the abdominal organs	7528	YY1	ORPHA:97279
HP:0002012	Abnormality of the abdominal organs	2746	GLUD1	OMIM:606762
HP:0002012	Abnormality of the abdominal organs	5167	ENPP1	ORPHA:51608
HP:0002012	Abnormality of the abdominal organs	368	ABCC6	ORPHA:51608
HP:0002012	Abnormality of the abdominal organs	8312	AXIN1	OMIM:114550
HP:0002012	Abnormality of the abdominal organs	841	CASP8	OMIM:114550
HP:0002012	Abnormality of the abdominal organs	5157	PDGFRL	OMIM:114550
HP:0002012	Abnormality of the abdominal organs	3482	IGF2R	OMIM:114550
HP:0002012	Abnormality of the abdominal organs	56922	MCCC1	OMIM:210200
HP:0002012	Abnormality of the abdominal organs	889	KRIT1	OMIM:116860
HP:0002012	Abnormality of the abdominal organs	10664	CTCF	ORPHA:363611
HP:0002012	Abnormality of the abdominal organs	23446	SLC44A1	OMIM:618868
HP:0002012	Abnormality of the abdominal organs	5626	PROP1	ORPHA:226307
HP:0002012	Abnormality of the abdominal organs	89884	LHX4	ORPHA:226307
HP:0002012	Abnormality of the abdominal organs	8022	LHX3	ORPHA:226307
HP:0002012	Abnormality of the abdominal organs	8820	HESX1	ORPHA:226307
HP:0002012	Abnormality of the abdominal organs	1593	CYP27A1	ORPHA:909
HP:0002012	Abnormality of the abdominal organs	8405	SPOP	OMIM:618828
HP:0002012	Abnormality of the abdominal organs	8085	KMT2D	OMIM:620186
HP:0002012	Abnormality of the abdominal organs	64324	NSD1	ORPHA:821
HP:0002012	Abnormality of the abdominal organs	64324	NSD1	OMIM:117550
HP:0002012	Abnormality of the abdominal organs	29072	SETD2	ORPHA:821
HP:0002012	Abnormality of the abdominal organs	10297	APC2	ORPHA:821
HP:0002012	Abnormality of the abdominal organs	123264	SLC51B	OMIM:619481
HP:0002012	Abnormality of the abdominal organs	5631	PRPS1	ORPHA:423479
HP:0002012	Abnormality of the abdominal organs	50506	DUOX2	ORPHA:226316
HP:0002012	Abnormality of the abdominal organs	50506	DUOX2	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	55904	KMT2E	OMIM:618512
HP:0002012	Abnormality of the abdominal organs	25973	PARS2	OMIM:618437
HP:0002012	Abnormality of the abdominal organs	7252	TSHB	ORPHA:90674
HP:0002012	Abnormality of the abdominal organs	6554	SLC10A1	OMIM:619256
HP:0002012	Abnormality of the abdominal organs	405753	DUOXA2	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	6528	SLC5A5	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	7038	TG	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	7173	TPO	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	389434	IYD	ORPHA:95716
HP:0002012	Abnormality of the abdominal organs	7201	TRHR	ORPHA:99832
HP:0002012	Abnormality of the abdominal organs	6567	SLC16A2	ORPHA:59
HP:0002012	Abnormality of the abdominal organs	2688	GH1	OMIM:262400
HP:0002012	Abnormality of the abdominal organs	84153	RNASEH2C	ORPHA:51
HP:0002012	Abnormality of the abdominal organs	25939	SAMHD1	ORPHA:51
HP:0002012	Abnormality of the abdominal organs	79621	RNASEH2B	ORPHA:51
HP:0002012	Abnormality of the abdominal organs	134353	LSM11	ORPHA:51
HP:0002012	Abnormality of the abdominal organs	2321	FLT1	ORPHA:275555
HP:0002012	Abnormality of the abdominal organs	219736	STOX1	ORPHA:275555
HP:0002012	Abnormality of the abdominal organs	10699	CORIN	ORPHA:275555
HP:0002012	Abnormality of the abdominal organs	4072	EPCAM	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	4292	MLH1	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	5395	PMS2	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	27030	MLH3	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	22909	FAN1	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	7048	TGFBR2	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	5290	PIK3CA	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	2956	MSH6	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	5378	PMS1	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	4436	MSH2	ORPHA:144
HP:0002012	Abnormality of the abdominal organs	54894	RNF43	ORPHA:157798
HP:0002012	Abnormality of the abdominal organs	4913	NTHL1	ORPHA:454840
HP:0002012	Abnormality of the abdominal organs	4913	NTHL1	OMIM:616415
HP:0002012	Abnormality of the abdominal organs	64218	SEMA4A	ORPHA:440437
HP:0002012	Abnormality of the abdominal organs	657	BMPR1A	ORPHA:440437
HP:0002012	Abnormality of the abdominal organs	6224	RPS20	ORPHA:440437
HP:0002012	Abnormality of the abdominal organs	6794	STK11	ORPHA:2869
HP:0002012	Abnormality of the abdominal organs	7373	COL14A1	ORPHA:79501
HP:0002012	Abnormality of the abdominal organs	79719	AAGAB	ORPHA:79501
HP:0002012	Abnormality of the abdominal organs	93	ACVR2B	OMIM:613751
HP:0002012	Abnormality of the abdominal organs	6651	SON	OMIM:617140
HP:0002012	Abnormality of the abdominal organs	6651	SON	ORPHA:500150
HP:0002012	Abnormality of the abdominal organs	27152	INTU	OMIM:617925
HP:0002012	Abnormality of the abdominal organs	5054	SERPINE1	ORPHA:465
HP:0002012	Abnormality of the abdominal organs	2159	F10	ORPHA:328
HP:0002012	Abnormality of the abdominal organs	2821	GPI	OMIM:613470
HP:0002012	Abnormality of the abdominal organs	5774	PTPN3	ORPHA:70567
HP:0002012	Abnormality of the abdominal organs	6338	SCNN1B	OMIM:211400
HP:0002012	Abnormality of the abdominal organs	6337	SCNN1A	OMIM:613021
HP:0002012	Abnormality of the abdominal organs	10043	TOM1	ORPHA:391487
HP:0002012	Abnormality of the abdominal organs	50943	FOXP3	OMIM:304790
HP:0002012	Abnormality of the abdominal organs	50943	FOXP3	ORPHA:37042
HP:0002012	Abnormality of the abdominal organs	716	C1S	OMIM:613783
HP:0002012	Abnormality of the abdominal organs	695	BTK	ORPHA:47
HP:0002012	Abnormality of the abdominal organs	915	CD3D	ORPHA:169160
HP:0002012	Abnormality of the abdominal organs	916	CD3E	ORPHA:169160
HP:0002012	Abnormality of the abdominal organs	919	CD247	ORPHA:169160
HP:0002012	Abnormality of the abdominal organs	6850	SYK	OMIM:619381
HP:0002012	Abnormality of the abdominal organs	84818	IL17RC	ORPHA:1334
HP:0002012	Abnormality of the abdominal organs	64581	CLEC7A	ORPHA:1334
HP:0002012	Abnormality of the abdominal organs	23765	IL17RA	ORPHA:1334
HP:0002012	Abnormality of the abdominal organs	10758	TRAF3IP2	ORPHA:1334
HP:0002012	Abnormality of the abdominal organs	112744	IL17F	ORPHA:1334
HP:0002012	Abnormality of the abdominal organs	54	ACP5	ORPHA:1855
HP:0002012	Abnormality of the abdominal organs	6929	TCF3	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	973	CD79A	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	974	CD79B	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	3543	IGLL1	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	3507	IGHM	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	29760	BLNK	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	5295	PIK3R1	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	56262	LRRC8A	ORPHA:33110
HP:0002012	Abnormality of the abdominal organs	23476	BRD4	ORPHA:443167
HP:0002012	Abnormality of the abdominal organs	256646	NUTM1	ORPHA:443167
HP:0002012	Abnormality of the abdominal organs	389692	MAFA	OMIM:147630
HP:0002012	Abnormality of the abdominal organs	4221	MEN1	ORPHA:652
HP:0002012	Abnormality of the abdominal organs	4221	MEN1	OMIM:131100
HP:0002012	Abnormality of the abdominal organs	1027	CDKN1B	ORPHA:652
HP:0002012	Abnormality of the abdominal organs	1027	CDKN1B	ORPHA:276152
HP:0002012	Abnormality of the abdominal organs	1026	CDKN1A	ORPHA:652
HP:0002012	Abnormality of the abdominal organs	1030	CDKN2B	ORPHA:652
HP:0002012	Abnormality of the abdominal organs	1031	CDKN2C	ORPHA:652
HP:0002012	Abnormality of the abdominal organs	2244	FGB	OMIM:202400
HP:0002012	Abnormality of the abdominal organs	2266	FGG	OMIM:202400
HP:0002012	Abnormality of the abdominal organs	2512	FTL	ORPHA:254704
HP:0002012	Abnormality of the abdominal organs	4891	SLC11A2	OMIM:206100
HP:0002012	Abnormality of the abdominal organs	2495	FTH1	OMIM:615517
HP:0002012	Abnormality of the abdominal organs	10667	FARS2	OMIM:614946
HP:0002012	Abnormality of the abdominal organs	54532	USP53	OMIM:619658
HP:0002012	Abnormality of the abdominal organs	57410	SCYL1	OMIM:616719
HP:0002012	Abnormality of the abdominal organs	9420	CYP7B1	OMIM:613812
HP:0002012	Abnormality of the abdominal organs	60561	RINT1	OMIM:618641
HP:0002012	Abnormality of the abdominal organs	51473	DCDC2	OMIM:617394
HP:0002012	Abnormality of the abdominal organs	8772	FADD	OMIM:613759
HP:0002012	Abnormality of the abdominal organs	537	ATP6AP1	OMIM:300972
HP:0002012	Abnormality of the abdominal organs	113220	KIF12	OMIM:619662
HP:0002012	Abnormality of the abdominal organs	2934	GSN	ORPHA:85448
HP:0002012	Abnormality of the abdominal organs	26525	IL36RN	OMIM:614204
HP:0002012	Abnormality of the abdominal organs	462	SERPINC1	ORPHA:82
HP:0002012	Abnormality of the abdominal organs	9772	TMEM94	OMIM:618316
HP:0002012	Abnormality of the abdominal organs	8318	CDC45	OMIM:617063
HP:0002012	Abnormality of the abdominal organs	5994	RFXAP	ORPHA:572
HP:0002012	Abnormality of the abdominal organs	4261	CIITA	ORPHA:572
HP:0002012	Abnormality of the abdominal organs	5993	RFX5	ORPHA:572
HP:0002012	Abnormality of the abdominal organs	8625	RFXANK	ORPHA:572
HP:0002012	Abnormality of the abdominal organs	5966	REL	OMIM:619652
HP:0002012	Abnormality of the abdominal organs	959	CD40LG	OMIM:308230
HP:0002012	Abnormality of the abdominal organs	2317	FLNB	ORPHA:1190
HP:0002012	Abnormality of the abdominal organs	1387	CREBBP	OMIM:180849
HP:0002012	Abnormality of the abdominal organs	2033	EP300	OMIM:180849
HP:0002012	Abnormality of the abdominal organs	54919	DNAAF5	OMIM:614874
HP:0002012	Abnormality of the abdominal organs	100128908	CIROP	OMIM:619702
HP:0002012	Abnormality of the abdominal organs	83538	ODAD4	OMIM:617092
HP:0002012	Abnormality of the abdominal organs	2657	GDF1	OMIM:208530
HP:0002012	Abnormality of the abdominal organs	3716	JAK1	OMIM:618999
HP:0002012	Abnormality of the abdominal organs	84342	COG8	OMIM:611182
HP:0002012	Abnormality of the abdominal organs	10112	KIF20A	OMIM:619433
HP:0002012	Abnormality of the abdominal organs	113189	CHST14	ORPHA:2953
HP:0002012	Abnormality of the abdominal organs	29940	DSE	ORPHA:2953
HP:0002012	Abnormality of the abdominal organs	493856	CISD2	ORPHA:3463
HP:0002012	Abnormality of the abdominal organs	7466	WFS1	ORPHA:3463
HP:0002012	Abnormality of the abdominal organs	4558	MT-TF	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4572	MT-TQ	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4512	MT-CO1	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4513	MT-CO2	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4514	MT-CO3	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4575	MT-TS2	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	4564	MT-TH	ORPHA:550
HP:0002012	Abnormality of the abdominal organs	2642	GCGR	OMIM:619290
HP:0002012	Abnormality of the abdominal organs	1357	CPA1	ORPHA:676
HP:0002012	Abnormality of the abdominal organs	51135	IRAK4	OMIM:607676
HP:0002012	Abnormality of the abdominal organs	3514	IGKC	ORPHA:183675
HP:0002012	Abnormality of the abdominal organs	3501	IGHG2	ORPHA:183675
HP:0002012	Abnormality of the abdominal organs	1075	CTSC	ORPHA:678
HP:0002012	Abnormality of the abdominal organs	410	ARSA	ORPHA:309271
HP:0002012	Abnormality of the abdominal organs	5297	PI4KA	ORPHA:436252
HP:0002012	Abnormality of the abdominal organs	57217	TTC7A	ORPHA:436252
HP:0002012	Abnormality of the abdominal organs	168667	BMPER	OMIM:608022
HP:0002012	Abnormality of the abdominal organs	51651	PTRH2	ORPHA:456312
HP:0002012	Abnormality of the abdominal organs	64220	STRA6	ORPHA:2470
HP:0002012	Abnormality of the abdominal organs	5915	RARB	ORPHA:2470
HP:0002012	Abnormality of the abdominal organs	6928	HNF1B	ORPHA:93111
HP:0002012	Abnormality of the abdominal organs	256297	PTF1A	ORPHA:65288
HP:0002012	Abnormality of the abdominal organs	3651	PDX1	OMIM:260370
HP:0002012	Abnormality of the abdominal organs	2627	GATA6	ORPHA:2255
HP:0002012	Abnormality of the abdominal organs	23019	CNOT1	ORPHA:556955
HP:0002012	Abnormality of the abdominal organs	23019	CNOT1	OMIM:618500
HP:0002012	Abnormality of the abdominal organs	3975	LHX1	ORPHA:261265
HP:0002012	Abnormality of the abdominal organs	11198	SUPT16H	OMIM:619480
HP:0002012	Abnormality of the abdominal organs	8239	USP9X	ORPHA:480880
HP:0002012	Abnormality of the abdominal organs	721	C4B	OMIM:614379
HP:0002012	Abnormality of the abdominal organs	326	AIRE	OMIM:240300
HP:0002012	Abnormality of the abdominal organs	745	MYRF	OMIM:618280
HP:0002012	Abnormality of the abdominal organs	6514	SLC2A2	ORPHA:2088
HP:0002013	Vomiting	6584	SLC22A5	ORPHA:158
HP:0002013	Vomiting	6584	SLC22A5	OMIM:212140
HP:0002013	Vomiting	10128	LRPPRC	OMIM:220111
HP:0002013	Vomiting	6535	SLC6A8	OMIM:300352
HP:0002013	Vomiting	23394	ADNP	ORPHA:404448
HP:0002013	Vomiting	54539	NDUFB11	ORPHA:2609
HP:0002013	Vomiting	25915	NDUFAF3	ORPHA:2609
HP:0002013	Vomiting	51103	NDUFAF1	ORPHA:2609
HP:0002013	Vomiting	91942	NDUFAF2	ORPHA:2609
HP:0002013	Vomiting	51300	TIMMDC1	ORPHA:2609
HP:0002013	Vomiting	4716	NDUFB10	ORPHA:2609
HP:0002013	Vomiting	4723	NDUFV1	ORPHA:2609
HP:0002013	Vomiting	4723	NDUFV1	OMIM:618225
HP:0002013	Vomiting	55572	FOXRED1	ORPHA:2609
HP:0002013	Vomiting	284184	NDUFAF8	ORPHA:2609
HP:0002013	Vomiting	55863	TMEM126B	ORPHA:2609
HP:0002013	Vomiting	55863	TMEM126B	OMIM:618250
HP:0002013	Vomiting	4535	MT-ND1	ORPHA:2609
HP:0002013	Vomiting	4535	MT-ND1	ORPHA:550
HP:0002013	Vomiting	4537	MT-ND3	ORPHA:2609
HP:0002013	Vomiting	4729	NDUFV2	ORPHA:2609
HP:0002013	Vomiting	4694	NDUFA1	ORPHA:2609
HP:0002013	Vomiting	4720	NDUFS2	ORPHA:2609
HP:0002013	Vomiting	4720	NDUFS2	OMIM:618228
HP:0002013	Vomiting	4724	NDUFS4	ORPHA:2609
HP:0002013	Vomiting	4724	NDUFS4	OMIM:252010
HP:0002013	Vomiting	4726	NDUFS6	ORPHA:2609
HP:0002013	Vomiting	4728	NDUFS8	ORPHA:2609
HP:0002013	Vomiting	4722	NDUFS3	ORPHA:2609
HP:0002013	Vomiting	79133	NDUFAF5	ORPHA:2609
HP:0002013	Vomiting	126328	NDUFA11	ORPHA:2609
HP:0002013	Vomiting	4709	NDUFB3	ORPHA:2609
HP:0002013	Vomiting	80224	NUBPL	ORPHA:2609
HP:0002013	Vomiting	29078	NDUFAF4	ORPHA:2609
HP:0002013	Vomiting	374291	NDUFS7	ORPHA:2609
HP:0002013	Vomiting	4700	NDUFA6	ORPHA:2609
HP:0002013	Vomiting	4536	MT-ND2	ORPHA:2609
HP:0002013	Vomiting	4719	NDUFS1	ORPHA:2609
HP:0002013	Vomiting	4719	NDUFS1	OMIM:618226
HP:0002013	Vomiting	4715	NDUFB9	ORPHA:2609
HP:0002013	Vomiting	229	ALDOB	OMIM:229600
HP:0002013	Vomiting	229	ALDOB	ORPHA:469
HP:0002013	Vomiting	197322	ACSF3	OMIM:614265
HP:0002013	Vomiting	197322	ACSF3	ORPHA:289504
HP:0002013	Vomiting	5339	PLEC	ORPHA:158684
HP:0002013	Vomiting	3691	ITGB4	ORPHA:158684
HP:0002013	Vomiting	4598	MVK	OMIM:260920
HP:0002013	Vomiting	4598	MVK	OMIM:610377
HP:0002013	Vomiting	5009	OTC	OMIM:311250
HP:0002013	Vomiting	26873	OPLAH	OMIM:260005
HP:0002013	Vomiting	673	BRAF	OMIM:115150
HP:0002013	Vomiting	23417	MLYCD	OMIM:248360
HP:0002013	Vomiting	95	ACY1	ORPHA:137754
HP:0002013	Vomiting	324	APC	ORPHA:99818
HP:0002013	Vomiting	84334	COA8	ORPHA:436271
HP:0002013	Vomiting	9839	ZEB2	OMIM:235730
HP:0002013	Vomiting	5314	PKHD1	ORPHA:53035
HP:0002013	Vomiting	3909	LAMA3	ORPHA:79404
HP:0002013	Vomiting	3918	LAMC2	ORPHA:79404
HP:0002013	Vomiting	3914	LAMB3	ORPHA:79404
HP:0002013	Vomiting	4233	MET	ORPHA:33402
HP:0002013	Vomiting	1499	CTNNB1	ORPHA:33402
HP:0002013	Vomiting	4522	MTHFD1	OMIM:617780
HP:0002013	Vomiting	249	ALPL	OMIM:241500
HP:0002013	Vomiting	4210	MEFV	OMIM:249100
HP:0002013	Vomiting	80816	ASXL3	OMIM:615485
HP:0002013	Vomiting	4141	MARS1	OMIM:615486
HP:0002013	Vomiting	51506	UFC1	OMIM:618076
HP:0002013	Vomiting	1376	CPT2	OMIM:600649
HP:0002013	Vomiting	1376	CPT2	OMIM:608836
HP:0002013	Vomiting	5917	RARS1	ORPHA:438114
HP:0002013	Vomiting	4221	MEN1	ORPHA:2965
HP:0002013	Vomiting	4221	MEN1	ORPHA:652
HP:0002013	Vomiting	64072	CDH23	ORPHA:2965
HP:0002013	Vomiting	64072	CDH23	ORPHA:91347
HP:0002013	Vomiting	9049	AIP	ORPHA:2965
HP:0002013	Vomiting	4552	MTRR	ORPHA:2169
HP:0002013	Vomiting	3141	HLCS	OMIM:253270
HP:0002013	Vomiting	55904	KMT2E	OMIM:618512
HP:0002013	Vomiting	6507	SLC1A3	OMIM:612656
HP:0002013	Vomiting	6507	SLC1A3	ORPHA:2131
HP:0002013	Vomiting	5498	PPOX	OMIM:176200
HP:0002013	Vomiting	3077	HFE	OMIM:176200
HP:0002013	Vomiting	6523	SLC5A1	ORPHA:35710
HP:0002013	Vomiting	3284	HSD3B2	ORPHA:90791
HP:0002013	Vomiting	5428	POLG	ORPHA:298
HP:0002013	Vomiting	5428	POLG	OMIM:203700
HP:0002013	Vomiting	5428	POLG	OMIM:603041
HP:0002013	Vomiting	1890	TYMP	ORPHA:298
HP:0002013	Vomiting	1890	TYMP	OMIM:603041
HP:0002013	Vomiting	3980	LIG3	ORPHA:298
HP:0002013	Vomiting	50484	RRM2B	ORPHA:298
HP:0002013	Vomiting	50484	RRM2B	OMIM:612075
HP:0002013	Vomiting	8029	CUBN	ORPHA:35858
HP:0002013	Vomiting	81693	AMN	ORPHA:35858
HP:0002013	Vomiting	4072	EPCAM	ORPHA:92050
HP:0002013	Vomiting	105371045	PERCC1	ORPHA:92050
HP:0002013	Vomiting	1738	DLD	ORPHA:2394
HP:0002013	Vomiting	55687	TRMU	OMIM:613070
HP:0002013	Vomiting	3988	LIPA	OMIM:278000
HP:0002013	Vomiting	686	BTD	OMIM:253260
HP:0002013	Vomiting	7132	TNFRSF1A	OMIM:142680
HP:0002013	Vomiting	7132	TNFRSF1A	ORPHA:32960
HP:0002013	Vomiting	8942	KYNU	OMIM:236800
HP:0002013	Vomiting	3117	HLA-DQA1	OMIM:212750
HP:0002013	Vomiting	3119	HLA-DQB1	OMIM:212750
HP:0002013	Vomiting	64087	MCCC2	OMIM:210210
HP:0002013	Vomiting	5832	ALDH18A1	OMIM:601162
HP:0002013	Vomiting	5832	ALDH18A1	ORPHA:90348
HP:0002013	Vomiting	1716	DGUOK	OMIM:251880
HP:0002013	Vomiting	5095	PCCA	OMIM:606054
HP:0002013	Vomiting	5096	PCCB	OMIM:606054
HP:0002013	Vomiting	1277	COL1A1	ORPHA:287
HP:0002013	Vomiting	1289	COL5A1	ORPHA:287
HP:0002013	Vomiting	1290	COL5A2	ORPHA:287
HP:0002013	Vomiting	1717	DHCR7	OMIM:270400
HP:0002013	Vomiting	857	CAV1	OMIM:606721
HP:0002013	Vomiting	171023	ASXL1	ORPHA:97297
HP:0002013	Vomiting	50674	NEUROG3	OMIM:610370
HP:0002013	Vomiting	50674	NEUROG3	ORPHA:83620
HP:0002013	Vomiting	1371	CPOX	OMIM:618892
HP:0002013	Vomiting	1371	CPOX	OMIM:121300
HP:0002013	Vomiting	65998	ZFTA	ORPHA:251636
HP:0002013	Vomiting	5970	RELA	ORPHA:251636
HP:0002013	Vomiting	388962	BOLA3	OMIM:614299
HP:0002013	Vomiting	1591	CYP24A1	OMIM:143880
HP:0002013	Vomiting	28514	DLL1	ORPHA:93926
HP:0002013	Vomiting	28514	DLL1	ORPHA:93924
HP:0002013	Vomiting	28514	DLL1	ORPHA:93925
HP:0002013	Vomiting	28514	DLL1	ORPHA:220386
HP:0002013	Vomiting	2253	FGF8	ORPHA:93926
HP:0002013	Vomiting	2253	FGF8	ORPHA:93924
HP:0002013	Vomiting	2253	FGF8	ORPHA:93925
HP:0002013	Vomiting	2253	FGF8	ORPHA:220386
HP:0002013	Vomiting	6496	SIX3	ORPHA:93926
HP:0002013	Vomiting	6496	SIX3	ORPHA:93924
HP:0002013	Vomiting	6496	SIX3	ORPHA:93925
HP:0002013	Vomiting	6496	SIX3	ORPHA:220386
HP:0002013	Vomiting	7050	TGIF1	ORPHA:93926
HP:0002013	Vomiting	7050	TGIF1	ORPHA:93924
HP:0002013	Vomiting	7050	TGIF1	ORPHA:93925
HP:0002013	Vomiting	7050	TGIF1	ORPHA:220386
HP:0002013	Vomiting	4838	NODAL	ORPHA:93926
HP:0002013	Vomiting	4838	NODAL	ORPHA:93924
HP:0002013	Vomiting	4838	NODAL	ORPHA:93925
HP:0002013	Vomiting	4838	NODAL	ORPHA:220386
HP:0002013	Vomiting	6469	SHH	ORPHA:93926
HP:0002013	Vomiting	6469	SHH	ORPHA:93924
HP:0002013	Vomiting	6469	SHH	ORPHA:93925
HP:0002013	Vomiting	6469	SHH	ORPHA:220386
HP:0002013	Vomiting	7546	ZIC2	ORPHA:93926
HP:0002013	Vomiting	7546	ZIC2	ORPHA:93924
HP:0002013	Vomiting	7546	ZIC2	ORPHA:93925
HP:0002013	Vomiting	7546	ZIC2	ORPHA:220386
HP:0002013	Vomiting	6491	STIL	ORPHA:93926
HP:0002013	Vomiting	6491	STIL	ORPHA:93924
HP:0002013	Vomiting	6491	STIL	ORPHA:93925
HP:0002013	Vomiting	6491	STIL	ORPHA:220386
HP:0002013	Vomiting	2619	GAS1	ORPHA:93926
HP:0002013	Vomiting	2619	GAS1	ORPHA:93924
HP:0002013	Vomiting	2619	GAS1	ORPHA:93925
HP:0002013	Vomiting	2619	GAS1	ORPHA:220386
HP:0002013	Vomiting	84976	DISP1	ORPHA:93926
HP:0002013	Vomiting	84976	DISP1	ORPHA:93924
HP:0002013	Vomiting	84976	DISP1	ORPHA:93925
HP:0002013	Vomiting	84976	DISP1	ORPHA:220386
HP:0002013	Vomiting	2736	GLI2	ORPHA:93926
HP:0002013	Vomiting	2736	GLI2	ORPHA:93924
HP:0002013	Vomiting	2736	GLI2	ORPHA:93925
HP:0002013	Vomiting	2736	GLI2	ORPHA:220386
HP:0002013	Vomiting	8928	FOXH1	ORPHA:93926
HP:0002013	Vomiting	8928	FOXH1	ORPHA:93924
HP:0002013	Vomiting	8928	FOXH1	ORPHA:93925
HP:0002013	Vomiting	8928	FOXH1	ORPHA:220386
HP:0002013	Vomiting	5727	PTCH1	ORPHA:93926
HP:0002013	Vomiting	5727	PTCH1	ORPHA:93924
HP:0002013	Vomiting	5727	PTCH1	ORPHA:93925
HP:0002013	Vomiting	5727	PTCH1	ORPHA:220386
HP:0002013	Vomiting	50937	CDON	ORPHA:93926
HP:0002013	Vomiting	50937	CDON	ORPHA:93924
HP:0002013	Vomiting	50937	CDON	ORPHA:93925
HP:0002013	Vomiting	50937	CDON	ORPHA:220386
HP:0002013	Vomiting	84300	UQCC2	OMIM:615824
HP:0002013	Vomiting	56922	MCCC1	OMIM:210200
HP:0002013	Vomiting	2260	FGFR1	ORPHA:93924
HP:0002013	Vomiting	2260	FGFR1	ORPHA:220386
HP:0002013	Vomiting	23007	PLCH1	ORPHA:93925
HP:0002013	Vomiting	10735	STAG2	ORPHA:93925
HP:0002013	Vomiting	10735	STAG2	ORPHA:220386
HP:0002013	Vomiting	79053	ALG8	OMIM:608104
HP:0002013	Vomiting	79053	ALG8	ORPHA:79325
HP:0002013	Vomiting	5373	PMM2	OMIM:212065
HP:0002013	Vomiting	5373	PMM2	ORPHA:79318
HP:0002013	Vomiting	9056	SLC7A7	ORPHA:470
HP:0002013	Vomiting	9056	SLC7A7	OMIM:222700
HP:0002013	Vomiting	7809	BSND	ORPHA:89938
HP:0002013	Vomiting	1188	CLCNKB	ORPHA:89938
HP:0002013	Vomiting	1187	CLCNKA	ORPHA:89938
HP:0002013	Vomiting	1621	DBH	ORPHA:230
HP:0002013	Vomiting	51594	NBAS	OMIM:616483
HP:0002013	Vomiting	10043	TOM1	OMIM:619510
HP:0002013	Vomiting	8493	PPM1D	OMIM:617450
HP:0002013	Vomiting	1629	DBT	OMIM:248600
HP:0002013	Vomiting	593	BCKDHA	OMIM:248600
HP:0002013	Vomiting	594	BCKDHB	OMIM:248600
HP:0002013	Vomiting	54914	FOCAD	OMIM:619991
HP:0002013	Vomiting	22900	CARD8	OMIM:619079
HP:0002013	Vomiting	4519	MT-CYB	ORPHA:137675
HP:0002013	Vomiting	2592	GALT	OMIM:230400
HP:0002013	Vomiting	2592	GALT	ORPHA:79239
HP:0002013	Vomiting	8021	NUP214	OMIM:618426
HP:0002013	Vomiting	773	CACNA1A	ORPHA:2131
HP:0002013	Vomiting	773	CACNA1A	ORPHA:71518
HP:0002013	Vomiting	477	ATP1A2	ORPHA:2131
HP:0002013	Vomiting	478	ATP1A3	ORPHA:2131
HP:0002013	Vomiting	10056	FARSB	OMIM:613658
HP:0002013	Vomiting	5979	RET	OMIM:142623
HP:0002013	Vomiting	80704	SLC19A3	OMIM:607483
HP:0002013	Vomiting	1859	DYRK1A	ORPHA:464311
HP:0002013	Vomiting	6609	SMPD1	OMIM:257200
HP:0002013	Vomiting	84992	PIGY	OMIM:616809
HP:0002013	Vomiting	2203	FBP1	ORPHA:348
HP:0002013	Vomiting	166785	MMAA	OMIM:251100
HP:0002013	Vomiting	79796	ALG9	ORPHA:79328
HP:0002013	Vomiting	1909	EDNRA	OMIM:157300
HP:0002013	Vomiting	2099	ESR1	OMIM:157300
HP:0002013	Vomiting	7124	TNF	OMIM:157300
HP:0002013	Vomiting	3251	HPRT1	OMIM:300322
HP:0002013	Vomiting	554	AVPR2	OMIM:304800
HP:0002013	Vomiting	6288	SAA1	ORPHA:85445
HP:0002013	Vomiting	4306	NR3C2	OMIM:177735
HP:0002013	Vomiting	440138	ALG11	OMIM:613661
HP:0002013	Vomiting	2542	SLC37A4	OMIM:619525
HP:0002013	Vomiting	51128	SAR1B	ORPHA:71
HP:0002013	Vomiting	51128	SAR1B	OMIM:246700
HP:0002013	Vomiting	540	ATP7B	OMIM:277900
HP:0002013	Vomiting	56652	TWNK	OMIM:271245
HP:0002013	Vomiting	3815	KIT	ORPHA:79455
HP:0002013	Vomiting	38	ACAT1	ORPHA:134
HP:0002013	Vomiting	38	ACAT1	OMIM:203750
HP:0002013	Vomiting	9968	MED12	OMIM:301068
HP:0002013	Vomiting	4351	MPI	ORPHA:79319
HP:0002013	Vomiting	4351	MPI	OMIM:602579
HP:0002013	Vomiting	34	ACADM	ORPHA:42
HP:0002013	Vomiting	34	ACADM	OMIM:201450
HP:0002013	Vomiting	55739	NAXD	OMIM:618321
HP:0002013	Vomiting	11330	CTRC	ORPHA:103918
HP:0002013	Vomiting	6690	SPINK1	ORPHA:103918
HP:0002013	Vomiting	4488	MSX2	ORPHA:60015
HP:0002013	Vomiting	60529	ALX4	ORPHA:60015
HP:0002013	Vomiting	2717	GLA	OMIM:301500
HP:0002013	Vomiting	546	ATRX	OMIM:309580
HP:0002013	Vomiting	8565	YARS1	OMIM:619418
HP:0002013	Vomiting	50943	FOXP3	ORPHA:37042
HP:0002013	Vomiting	2006	ELN	ORPHA:90348
HP:0002013	Vomiting	10516	FBLN5	ORPHA:90348
HP:0002013	Vomiting	162417	NAGS	ORPHA:927
HP:0002013	Vomiting	162417	NAGS	OMIM:237310
HP:0002013	Vomiting	11181	TREH	ORPHA:103909
HP:0002013	Vomiting	10165	SLC25A13	ORPHA:247585
HP:0002013	Vomiting	445	ASS1	OMIM:215700
HP:0002013	Vomiting	710	SERPING1	OMIM:106100
HP:0002013	Vomiting	710	SERPING1	ORPHA:100050
HP:0002013	Vomiting	10195	ALG3	OMIM:601110
HP:0002013	Vomiting	56246	MRAP	ORPHA:361
HP:0002013	Vomiting	6770	STAR	ORPHA:361
HP:0002013	Vomiting	4158	MC2R	ORPHA:361
HP:0002013	Vomiting	23530	NNT	ORPHA:361
HP:0002013	Vomiting	10587	TXNRD2	ORPHA:361
HP:0002013	Vomiting	5256	PHKA2	ORPHA:264580
HP:0002013	Vomiting	5261	PHKG2	ORPHA:264580
HP:0002013	Vomiting	2581	GALC	OMIM:245200
HP:0002013	Vomiting	2581	GALC	ORPHA:206436
HP:0002013	Vomiting	8694	DGAT1	OMIM:615863
HP:0002013	Vomiting	1288	COL4A6	ORPHA:1018
HP:0002013	Vomiting	1287	COL4A5	ORPHA:1018
HP:0002013	Vomiting	2161	F12	OMIM:610618
HP:0002013	Vomiting	8518	ELP1	OMIM:223900
HP:0002013	Vomiting	4558	MT-TF	ORPHA:550
HP:0002013	Vomiting	4572	MT-TQ	ORPHA:550
HP:0002013	Vomiting	4512	MT-CO1	ORPHA:550
HP:0002013	Vomiting	4513	MT-CO2	ORPHA:550
HP:0002013	Vomiting	4514	MT-CO3	ORPHA:550
HP:0002013	Vomiting	4578	MT-TW	ORPHA:550
HP:0002013	Vomiting	4540	MT-ND5	ORPHA:550
HP:0002013	Vomiting	4541	MT-ND6	ORPHA:550
HP:0002013	Vomiting	4538	MT-ND4	ORPHA:550
HP:0002013	Vomiting	4567	MT-TL1	ORPHA:550
HP:0002013	Vomiting	4574	MT-TS1	ORPHA:550
HP:0002013	Vomiting	4575	MT-TS2	ORPHA:550
HP:0002013	Vomiting	4564	MT-TH	ORPHA:550
HP:0002013	Vomiting	359	AQP2	OMIM:125800
HP:0002013	Vomiting	6948	TCN2	OMIM:275350
HP:0002013	Vomiting	6775	STAT4	ORPHA:93552
HP:0002013	Vomiting	6696	SPP1	ORPHA:93552
HP:0002013	Vomiting	3654	IRAK1	ORPHA:93552
HP:0002013	Vomiting	6261	RYR1	ORPHA:466650
HP:0002013	Vomiting	56606	SLC2A9	ORPHA:94088
HP:0002013	Vomiting	116085	SLC22A12	ORPHA:94088
HP:0002013	Vomiting	4023	LPL	OMIM:238600
HP:0002013	Vomiting	26275	HIBCH	ORPHA:88639
HP:0002013	Vomiting	4695	NDUFA2	OMIM:618235
HP:0002013	Vomiting	6809	STX3	OMIM:619445
HP:0002013	Vomiting	10157	AASS	ORPHA:2203
HP:0002013	Vomiting	443	ASPA	ORPHA:314911
HP:0002013	Vomiting	3767	KCNJ11	ORPHA:79134
HP:0002013	Vomiting	79731	NARS2	ORPHA:79134
HP:0002013	Vomiting	6833	ABCC8	ORPHA:79134
HP:0002013	Vomiting	8869	ST3GAL5	OMIM:609056
HP:0002013	Vomiting	84340	GFM2	ORPHA:565624
HP:0002013	Vomiting	1956	EGFR	OMIM:616069
HP:0002013	Vomiting	8260	NAA10	OMIM:300855
HP:0002013	Vomiting	6326	SCN2A	OMIM:618924
HP:0002013	Vomiting	4358	MPV17	OMIM:256810
HP:0002013	Vomiting	7157	TP53	OMIM:260500
HP:0002013	Vomiting	1585	CYP11B2	OMIM:203400
HP:0002013	Vomiting	1585	CYP11B2	ORPHA:556030
HP:0002013	Vomiting	29920	PYCR2	ORPHA:481152
HP:0002013	Vomiting	5257	PHKB	ORPHA:79240
HP:0002013	Vomiting	22845	DOLK	OMIM:610768
HP:0002013	Vomiting	4594	MMUT	OMIM:251000
HP:0002013	Vomiting	3158	HMGCS2	OMIM:605911
HP:0002013	Vomiting	4547	MTTP	ORPHA:14
HP:0002013	Vomiting	3712	IVD	OMIM:243500
HP:0002013	Vomiting	1583	CYP11A1	ORPHA:289548
HP:0002013	Vomiting	1583	CYP11A1	ORPHA:168558
HP:0002013	Vomiting	6557	SLC12A1	OMIM:601678
HP:0002013	Vomiting	3172	HNF4A	ORPHA:263455
HP:0002013	Vomiting	5903	RANBP2	ORPHA:88619
HP:0002013	Vomiting	3155	HMGCL	OMIM:246450
HP:0002013	Vomiting	8802	SUCLG1	ORPHA:17
HP:0002013	Vomiting	3758	KCNJ1	OMIM:241200
HP:0002013	Vomiting	4714	NDUFB8	OMIM:618252
HP:0002013	Vomiting	2065	ERBB3	OMIM:243180
HP:0002013	Vomiting	26227	PHGDH	ORPHA:79351
HP:0002013	Vomiting	326625	MMAB	OMIM:251110
HP:0002013	Vomiting	87178	PNPT1	ORPHA:101111
HP:0002013	Vomiting	87178	PNPT1	OMIM:608703
HP:0002013	Vomiting	5167	ENPP1	ORPHA:51608
HP:0002013	Vomiting	368	ABCC6	ORPHA:51608
HP:0002013	Vomiting	51501	HIKESHI	OMIM:616881
HP:0002013	Vomiting	6711	SPTBN1	OMIM:619475
HP:0002013	Vomiting	9401	RECQL4	ORPHA:221016
HP:0002013	Vomiting	435	ASL	OMIM:207900
HP:0002013	Vomiting	5019	OXCT1	OMIM:245050
HP:0002013	Vomiting	6476	SI	ORPHA:35122
HP:0002013	Vomiting	1497	CTNS	ORPHA:411629
HP:0002013	Vomiting	1497	CTNS	ORPHA:411634
HP:0002013	Vomiting	79783	SUGCT	OMIM:231690
HP:0002013	Vomiting	2887	GRB10	ORPHA:96182
HP:0002013	Vomiting	6340	SCNN1G	ORPHA:171876
HP:0002013	Vomiting	6340	SCNN1G	OMIM:620126
HP:0002013	Vomiting	6337	SCNN1A	ORPHA:171876
HP:0002013	Vomiting	6337	SCNN1A	OMIM:264350
HP:0002013	Vomiting	6338	SCNN1B	ORPHA:171876
HP:0002013	Vomiting	6857	SYT1	ORPHA:522077
HP:0002013	Vomiting	2316	FLNA	OMIM:300048
HP:0002013	Vomiting	3075	CFH	ORPHA:244242
HP:0002013	Vomiting	3426	CFI	ORPHA:244242
HP:0002013	Vomiting	4179	CD46	ORPHA:244242
HP:0002013	Vomiting	101101692	HELLPAR	ORPHA:244242
HP:0002013	Vomiting	2670	GFAP	ORPHA:363717
HP:0002013	Vomiting	3145	HMBS	OMIM:176000
HP:0002013	Vomiting	3033	HADH	ORPHA:71212
HP:0002013	Vomiting	10551	AGR2	OMIM:620233
HP:0002013	Vomiting	1027	CDKN1B	ORPHA:652
HP:0002013	Vomiting	1026	CDKN1A	ORPHA:652
HP:0002013	Vomiting	1030	CDKN2B	ORPHA:652
HP:0002013	Vomiting	1031	CDKN2C	ORPHA:652
HP:0002013	Vomiting	6748	SSR4	ORPHA:370927
HP:0002013	Vomiting	2819	GPD1	OMIM:614480
HP:0002013	Vomiting	72	ACTG2	OMIM:155310
HP:0002013	Vomiting	51081	MRPS7	OMIM:617872
HP:0002013	Vomiting	1537	CYC1	OMIM:615453
HP:0002013	Vomiting	551	AVP	ORPHA:30925
HP:0002013	Vomiting	8243	SMC1A	ORPHA:220386
HP:0002013	Vomiting	210	ALAD	OMIM:612740
HP:0002013	Vomiting	383	ARG1	OMIM:207800
HP:0002013	Vomiting	5236	PGM1	OMIM:614921
HP:0002013	Vomiting	5660	PSAP	ORPHA:206436
HP:0002013	Vomiting	8139	GAN	OMIM:256850
HP:0002013	Vomiting	37	ACADVL	ORPHA:26793
HP:0002013	Vomiting	6850	SYK	OMIM:619381
HP:0002013	Vomiting	50617	ATP6V0A4	OMIM:602722
HP:0002013	Vomiting	1604	CD55	OMIM:226300
HP:0002013	Vomiting	3735	KARS1	OMIM:619147
HP:0002013	Vomiting	6794	STK11	ORPHA:2869
HP:0002013	Vomiting	6559	SLC12A3	OMIM:263800
HP:0002013	Vomiting	7388	UQCRH	OMIM:620137
HP:0002013	Vomiting	2693	GHSR	ORPHA:314811
HP:0002013	Vomiting	1373	CPS1	OMIM:237300
HP:0002013	Vomiting	2108	ETFA	OMIM:231680
HP:0002013	Vomiting	2109	ETFB	OMIM:231680
HP:0002013	Vomiting	2110	ETFDH	OMIM:231680
HP:0002013	Vomiting	27034	ACAD8	ORPHA:79159
HP:0002013	Vomiting	2582	GALE	OMIM:230350
HP:0002013	Vomiting	64682	ANAPC1	ORPHA:221008
HP:0002013	Vomiting	340533	NEXMIF	OMIM:300912
HP:0002013	Vomiting	1024	CDK8	OMIM:618748
HP:0002013	Vomiting	763	CA5A	OMIM:615751
HP:0002013	Vomiting	85358	SHANK3	OMIM:606232
HP:0002013	Vomiting	3190	HNRNPK	ORPHA:453504
HP:0002013	Vomiting	3190	HNRNPK	ORPHA:352665
HP:0002013	Vomiting	4784	NFIX	ORPHA:447980
HP:0002013	Vomiting	4577	MT-TV	ORPHA:255210
HP:0002013	Vomiting	4577	MT-TV	OMIM:540000
HP:0002013	Vomiting	4508	MT-ATP6	ORPHA:255210
HP:0002013	Vomiting	4566	MT-TK	ORPHA:255210
HP:0002013	Vomiting	4566	MT-TK	OMIM:540000
HP:0002013	Vomiting	58484	NLRC4	OMIM:616050
HP:0002013	Vomiting	728294	D2HGDH	OMIM:600721
HP:0002013	Vomiting	11235	PDCD10	ORPHA:221061
HP:0002013	Vomiting	83605	CCM2	ORPHA:221061
HP:0002013	Vomiting	889	KRIT1	ORPHA:221061
HP:0002013	Vomiting	64711	HS3ST6	OMIM:619367
HP:0002013	Vomiting	7385	UQCRC2	OMIM:615160
HP:0002013	Vomiting	9578	CDC42BPB	OMIM:619841
HP:0002013	Vomiting	10660	LBX1	OMIM:619483
HP:0002013	Vomiting	2258	FGF13	OMIM:301095
HP:0002013	Vomiting	2593	GAMT	OMIM:612736
HP:0002013	Vomiting	2710	GK	OMIM:307030
HP:0002013	Vomiting	100996717	NOTCH2NLC	OMIM:603472
HP:0002013	Vomiting	10166	SLC25A15	ORPHA:415
HP:0002013	Vomiting	10166	SLC25A15	OMIM:238970
HP:0002013	Vomiting	4511	MT-TC	OMIM:540000
HP:0002013	Vomiting	27235	COQ2	OMIM:607426
HP:0002013	Vomiting	27235	COQ2	ORPHA:255249
HP:0002013	Vomiting	55898	UNC45A	OMIM:619377
HP:0002013	Vomiting	57107	PDSS2	ORPHA:255249
HP:0002013	Vomiting	64324	NSD1	OMIM:117550
HP:0002013	Vomiting	2184	FAH	OMIM:276700
HP:0002013	Vomiting	7276	TTR	OMIM:105210
HP:0002013	Vomiting	6821	SUOX	OMIM:272300
HP:0002013	Vomiting	8884	SLC5A6	OMIM:618973
HP:0002013	Vomiting	8621	CDK13	OMIM:617360
HP:0002013	Vomiting	79827	CLMP	OMIM:615237
HP:0002013	Vomiting	9255	AIMP1	OMIM:260600
HP:0002013	Vomiting	29928	TIMM22	OMIM:618851
HP:0002013	Vomiting	55107	ANO1	OMIM:620045
HP:0002014	Diarrhea	100	ADA	ORPHA:277
HP:0002014	Diarrhea	100	ADA	OMIM:102700
HP:0002014	Diarrhea	6335	SCN9A	OMIM:133020
HP:0002014	Diarrhea	3561	IL2RG	ORPHA:276
HP:0002014	Diarrhea	171023	ASXL1	ORPHA:98850
HP:0002014	Diarrhea	171023	ASXL1	ORPHA:98849
HP:0002014	Diarrhea	54790	TET2	ORPHA:98850
HP:0002014	Diarrhea	54790	TET2	ORPHA:98849
HP:0002014	Diarrhea	867	CBL	ORPHA:98850
HP:0002014	Diarrhea	861	RUNX1	ORPHA:98850
HP:0002014	Diarrhea	6427	SRSF2	ORPHA:98850
HP:0002014	Diarrhea	6427	SRSF2	ORPHA:98849
HP:0002014	Diarrhea	90268	OTULIN	OMIM:617099
HP:0002014	Diarrhea	197322	ACSF3	OMIM:614265
HP:0002014	Diarrhea	6809	STX3	ORPHA:2290
HP:0002014	Diarrhea	4645	MYO5B	ORPHA:2290
HP:0002014	Diarrhea	4598	MVK	OMIM:260920
HP:0002014	Diarrhea	4598	MVK	OMIM:610377
HP:0002014	Diarrhea	4598	MVK	ORPHA:343
HP:0002014	Diarrhea	26873	OPLAH	OMIM:260005
HP:0002014	Diarrhea	1593	CYP27A1	OMIM:213700
HP:0002014	Diarrhea	3815	KIT	ORPHA:98849
HP:0002014	Diarrhea	3815	KIT	ORPHA:79455
HP:0002014	Diarrhea	23417	MLYCD	OMIM:248360
HP:0002014	Diarrhea	324	APC	ORPHA:99818
HP:0002014	Diarrhea	7253	TSHR	ORPHA:99819
HP:0002014	Diarrhea	7253	TSHR	ORPHA:424
HP:0002014	Diarrhea	1161	ERCC8	ORPHA:90321
HP:0002014	Diarrhea	2072	ERCC4	ORPHA:90321
HP:0002014	Diarrhea	2074	ERCC6	ORPHA:90321
HP:0002014	Diarrhea	215	ABCD1	ORPHA:388
HP:0002014	Diarrhea	5979	RET	ORPHA:388
HP:0002014	Diarrhea	5979	RET	OMIM:162300
HP:0002014	Diarrhea	2668	GDNF	ORPHA:388
HP:0002014	Diarrhea	6608	SMO	ORPHA:388
HP:0002014	Diarrhea	1889	ECE1	ORPHA:388
HP:0002014	Diarrhea	6720	SREBF1	ORPHA:388
HP:0002014	Diarrhea	1908	EDN3	ORPHA:388
HP:0002014	Diarrhea	223117	SEMA3D	ORPHA:388
HP:0002014	Diarrhea	538	ATP7A	ORPHA:388
HP:0002014	Diarrhea	1910	EDNRB	ORPHA:388
HP:0002014	Diarrhea	10512	SEMA3C	ORPHA:388
HP:0002014	Diarrhea	2064	ERBB2	ORPHA:388
HP:0002014	Diarrhea	2065	ERBB3	ORPHA:388
HP:0002014	Diarrhea	4902	NRTN	ORPHA:388
HP:0002014	Diarrhea	3074	HEXB	ORPHA:309162
HP:0002014	Diarrhea	4210	MEFV	OMIM:249100
HP:0002014	Diarrhea	4210	MEFV	ORPHA:342
HP:0002014	Diarrhea	5651	TMPRSS15	OMIM:226200
HP:0002014	Diarrhea	790	CAD	OMIM:616457
HP:0002014	Diarrhea	84936	ZFYVE19	OMIM:619849
HP:0002014	Diarrhea	973	CD79A	OMIM:613501
HP:0002014	Diarrhea	973	CD79A	ORPHA:33110
HP:0002014	Diarrhea	6523	SLC5A1	ORPHA:35710
HP:0002014	Diarrhea	23474	ETHE1	ORPHA:51188
HP:0002014	Diarrhea	7535	ZAP70	OMIM:269840
HP:0002014	Diarrhea	5428	POLG	ORPHA:298
HP:0002014	Diarrhea	5428	POLG	OMIM:603041
HP:0002014	Diarrhea	1890	TYMP	ORPHA:298
HP:0002014	Diarrhea	1890	TYMP	OMIM:603041
HP:0002014	Diarrhea	3980	LIG3	ORPHA:298
HP:0002014	Diarrhea	50484	RRM2B	ORPHA:298
HP:0002014	Diarrhea	50484	RRM2B	OMIM:612075
HP:0002014	Diarrhea	2212	FCGR2A	OMIM:219700
HP:0002014	Diarrhea	7040	TGFB1	OMIM:219700
HP:0002014	Diarrhea	1080	CFTR	OMIM:219700
HP:0002014	Diarrhea	6772	STAT1	OMIM:614162
HP:0002014	Diarrhea	6772	STAT1	ORPHA:391487
HP:0002014	Diarrhea	170302	ARX	OMIM:300215
HP:0002014	Diarrhea	23495	TNFRSF13B	OMIM:240500
HP:0002014	Diarrhea	115650	TNFRSF13C	OMIM:240500
HP:0002014	Diarrhea	1380	CR2	OMIM:240500
HP:0002014	Diarrhea	29851	ICOS	OMIM:240500
HP:0002014	Diarrhea	29851	ICOS	OMIM:607594
HP:0002014	Diarrhea	930	CD19	OMIM:240500
HP:0002014	Diarrhea	8647	ABCB11	OMIM:601847
HP:0002014	Diarrhea	4089	SMAD4	OMIM:174900
HP:0002014	Diarrhea	657	BMPR1A	OMIM:174900
HP:0002014	Diarrhea	657	BMPR1A	ORPHA:79076
HP:0002014	Diarrhea	1493	CTLA4	OMIM:616100
HP:0002014	Diarrhea	3988	LIPA	OMIM:278000
HP:0002014	Diarrhea	3988	LIPA	ORPHA:75234
HP:0002014	Diarrhea	6499	SKIC2	OMIM:614602
HP:0002014	Diarrhea	686	BTD	OMIM:253260
HP:0002014	Diarrhea	3117	HLA-DQA1	OMIM:212750
HP:0002014	Diarrhea	3119	HLA-DQB1	OMIM:212750
HP:0002014	Diarrhea	55107	ANO1	OMIM:620045
HP:0002014	Diarrhea	7276	TTR	OMIM:105210
HP:0002014	Diarrhea	7276	TTR	ORPHA:85447
HP:0002014	Diarrhea	857	CAV1	OMIM:606721
HP:0002014	Diarrhea	28755	TRAC	OMIM:615387
HP:0002014	Diarrhea	50674	NEUROG3	OMIM:610370
HP:0002014	Diarrhea	50674	NEUROG3	ORPHA:83620
HP:0002014	Diarrhea	64127	NOD2	OMIM:617321
HP:0002014	Diarrhea	64127	NOD2	OMIM:266600
HP:0002014	Diarrhea	113235	SLC46A1	OMIM:229050
HP:0002014	Diarrhea	113235	SLC46A1	ORPHA:90045
HP:0002014	Diarrhea	54832	VPS13C	ORPHA:2828
HP:0002014	Diarrhea	11315	PARK7	ORPHA:2828
HP:0002014	Diarrhea	7345	UCHL1	ORPHA:2828
HP:0002014	Diarrhea	27429	HTRA2	ORPHA:2828
HP:0002014	Diarrhea	120892	LRRK2	ORPHA:2828
HP:0002014	Diarrhea	9829	DNAJC6	ORPHA:2828
HP:0002014	Diarrhea	6622	SNCA	ORPHA:2828
HP:0002014	Diarrhea	5420	PODXL	ORPHA:2828
HP:0002014	Diarrhea	65018	PINK1	ORPHA:2828
HP:0002014	Diarrhea	8867	SYNJ1	ORPHA:2828
HP:0002014	Diarrhea	5071	PRKN	ORPHA:2828
HP:0002014	Diarrhea	5728	PTEN	ORPHA:79076
HP:0002014	Diarrhea	79053	ALG8	OMIM:608104
HP:0002014	Diarrhea	79053	ALG8	ORPHA:79325
HP:0002014	Diarrhea	1174	AP1S1	OMIM:609313
HP:0002014	Diarrhea	5373	PMM2	OMIM:212065
HP:0002014	Diarrhea	1789	DNMT3B	OMIM:242860
HP:0002014	Diarrhea	9056	SLC7A7	ORPHA:470
HP:0002014	Diarrhea	9056	SLC7A7	OMIM:222700
HP:0002014	Diarrhea	10043	TOM1	ORPHA:391487
HP:0002014	Diarrhea	1621	DBH	ORPHA:230
HP:0002014	Diarrhea	105371045	PERCC1	OMIM:618662
HP:0002014	Diarrhea	3043	HBB	ORPHA:231214
HP:0002014	Diarrhea	3043	HBB	ORPHA:231226
HP:0002014	Diarrhea	54914	FOCAD	OMIM:619991
HP:0002014	Diarrhea	222546	RFX6	OMIM:615710
HP:0002014	Diarrhea	51604	PIGT	OMIM:615399
HP:0002014	Diarrhea	9841	ZBTB24	OMIM:614069
HP:0002014	Diarrhea	2592	GALT	OMIM:230400
HP:0002014	Diarrhea	2592	GALT	ORPHA:79239
HP:0002014	Diarrhea	773	CACNA1A	ORPHA:2131
HP:0002014	Diarrhea	6507	SLC1A3	ORPHA:2131
HP:0002014	Diarrhea	477	ATP1A2	ORPHA:2131
HP:0002014	Diarrhea	478	ATP1A3	ORPHA:2131
HP:0002014	Diarrhea	8659	ALDH4A1	ORPHA:79101
HP:0002014	Diarrhea	2203	FBP1	ORPHA:348
HP:0002014	Diarrhea	229	ALDOB	ORPHA:469
HP:0002014	Diarrhea	92667	MGME1	ORPHA:352447
HP:0002014	Diarrhea	64421	DCLRE1C	OMIM:603554
HP:0002014	Diarrhea	5896	RAG1	OMIM:603554
HP:0002014	Diarrhea	5896	RAG1	OMIM:601457
HP:0002014	Diarrhea	5897	RAG2	OMIM:603554
HP:0002014	Diarrhea	5897	RAG2	OMIM:601457
HP:0002014	Diarrhea	79796	ALG9	ORPHA:79328
HP:0002014	Diarrhea	5244	ABCB4	OMIM:602347
HP:0002014	Diarrhea	974	CD79B	OMIM:612692
HP:0002014	Diarrhea	974	CD79B	ORPHA:33110
HP:0002014	Diarrhea	4306	NR3C2	OMIM:177735
HP:0002014	Diarrhea	64135	IFIH1	OMIM:615846
HP:0002014	Diarrhea	10165	SLC25A13	ORPHA:247598
HP:0002014	Diarrhea	10165	SLC25A13	ORPHA:247585
HP:0002014	Diarrhea	51128	SAR1B	ORPHA:71
HP:0002014	Diarrhea	51128	SAR1B	OMIM:246700
HP:0002014	Diarrhea	3662	IRF4	ORPHA:3452
HP:0002014	Diarrhea	2683	B4GALT1	ORPHA:79332
HP:0002014	Diarrhea	91949	COG7	ORPHA:79333
HP:0002014	Diarrhea	38	ACAT1	ORPHA:134
HP:0002014	Diarrhea	4351	MPI	ORPHA:79319
HP:0002014	Diarrhea	4351	MPI	OMIM:602579
HP:0002014	Diarrhea	34	ACADM	ORPHA:42
HP:0002014	Diarrhea	5122	PCSK1	OMIM:600955
HP:0002014	Diarrhea	55739	NAXD	OMIM:618321
HP:0002014	Diarrhea	326	AIRE	OMIM:240300
HP:0002014	Diarrhea	2717	GLA	OMIM:301500
HP:0002014	Diarrhea	3423	IDS	OMIM:309900
HP:0002014	Diarrhea	85365	ALG2	OMIM:607906
HP:0002014	Diarrhea	1374	CPT1A	OMIM:255120
HP:0002014	Diarrhea	162417	NAGS	ORPHA:927
HP:0002014	Diarrhea	11181	TREH	ORPHA:103909
HP:0002014	Diarrhea	11181	TREH	OMIM:612119
HP:0002014	Diarrhea	8813	DPM1	ORPHA:79322
HP:0002014	Diarrhea	710	SERPING1	OMIM:106100
HP:0002014	Diarrhea	710	SERPING1	ORPHA:100050
HP:0002014	Diarrhea	10312	TCIRG1	ORPHA:486
HP:0002014	Diarrhea	1991	ELANE	ORPHA:486
HP:0002014	Diarrhea	2672	GFI1	ORPHA:486
HP:0002014	Diarrhea	6729	SRP54	ORPHA:486
HP:0002014	Diarrhea	81570	CLPB	ORPHA:486
HP:0002014	Diarrhea	10195	ALG3	OMIM:601110
HP:0002014	Diarrhea	6476	SI	OMIM:222900
HP:0002014	Diarrhea	6476	SI	ORPHA:35122
HP:0002014	Diarrhea	2000	ELF4	OMIM:301074
HP:0002014	Diarrhea	56246	MRAP	ORPHA:361
HP:0002014	Diarrhea	6770	STAR	ORPHA:361
HP:0002014	Diarrhea	4158	MC2R	ORPHA:361
HP:0002014	Diarrhea	23530	NNT	ORPHA:361
HP:0002014	Diarrhea	10587	TXNRD2	ORPHA:361
HP:0002014	Diarrhea	4615	MYD88	ORPHA:33226
HP:0002014	Diarrhea	5256	PHKA2	ORPHA:264580
HP:0002014	Diarrhea	5261	PHKG2	ORPHA:264580
HP:0002014	Diarrhea	8694	DGAT1	OMIM:615863
HP:0002014	Diarrhea	165918	RNF168	ORPHA:420741
HP:0002014	Diarrhea	204	AK2	ORPHA:33355
HP:0002014	Diarrhea	1188	CLCNKB	ORPHA:358
HP:0002014	Diarrhea	6559	SLC12A3	ORPHA:358
HP:0002014	Diarrhea	3075	CFH	OMIM:235400
HP:0002014	Diarrhea	3078	CFHR1	OMIM:235400
HP:0002014	Diarrhea	10878	CFHR3	OMIM:235400
HP:0002014	Diarrhea	6929	TCF3	ORPHA:33110
HP:0002014	Diarrhea	3543	IGLL1	ORPHA:33110
HP:0002014	Diarrhea	3507	IGHM	ORPHA:33110
HP:0002014	Diarrhea	29760	BLNK	ORPHA:33110
HP:0002014	Diarrhea	5295	PIK3R1	ORPHA:33110
HP:0002014	Diarrhea	56262	LRRC8A	ORPHA:33110
HP:0002014	Diarrhea	8518	ELP1	OMIM:223900
HP:0002014	Diarrhea	3155	HMGCL	ORPHA:20
HP:0002014	Diarrhea	4558	MT-TF	ORPHA:550
HP:0002014	Diarrhea	4572	MT-TQ	ORPHA:550
HP:0002014	Diarrhea	4512	MT-CO1	ORPHA:550
HP:0002014	Diarrhea	4513	MT-CO2	ORPHA:550
HP:0002014	Diarrhea	4514	MT-CO3	ORPHA:550
HP:0002014	Diarrhea	4578	MT-TW	ORPHA:550
HP:0002014	Diarrhea	4540	MT-ND5	ORPHA:550
HP:0002014	Diarrhea	4541	MT-ND6	ORPHA:550
HP:0002014	Diarrhea	4535	MT-ND1	ORPHA:550
HP:0002014	Diarrhea	4538	MT-ND4	ORPHA:550
HP:0002014	Diarrhea	4567	MT-TL1	ORPHA:550
HP:0002014	Diarrhea	4574	MT-TS1	ORPHA:550
HP:0002014	Diarrhea	4575	MT-TS2	ORPHA:550
HP:0002014	Diarrhea	4564	MT-TH	ORPHA:550
HP:0002014	Diarrhea	6448	SGSH	OMIM:252900
HP:0002014	Diarrhea	4175	MCM6	OMIM:223100
HP:0002014	Diarrhea	55388	MCM10	OMIM:619313
HP:0002014	Diarrhea	4683	NBN	OMIM:251260
HP:0002014	Diarrhea	3932	LCK	OMIM:615758
HP:0002014	Diarrhea	6948	TCN2	OMIM:275350
HP:0002014	Diarrhea	8737	RIPK1	OMIM:618108
HP:0002014	Diarrhea	4803	NGF	OMIM:608654
HP:0002014	Diarrhea	6775	STAT4	ORPHA:93552
HP:0002014	Diarrhea	6696	SPP1	ORPHA:93552
HP:0002014	Diarrhea	3654	IRAK1	ORPHA:93552
HP:0002014	Diarrhea	1776	DNASE1L3	ORPHA:36412
HP:0002014	Diarrhea	959	CD40LG	OMIM:308230
HP:0002014	Diarrhea	3106	HLA-B	ORPHA:29207
HP:0002014	Diarrhea	3106	HLA-B	ORPHA:36426
HP:0002014	Diarrhea	9948	WDR1	OMIM:150550
HP:0002014	Diarrhea	79631	EFL1	OMIM:617941
HP:0002014	Diarrhea	3459	IFNGR1	OMIM:209950
HP:0002014	Diarrhea	23095	KIF1B	OMIM:256700
HP:0002014	Diarrhea	10560	SLC19A2	ORPHA:49827
HP:0002014	Diarrhea	1644	DDC	OMIM:608643
HP:0002014	Diarrhea	7132	TNFRSF1A	ORPHA:32960
HP:0002014	Diarrhea	9837	GINS1	OMIM:617827
HP:0002014	Diarrhea	2542	SLC37A4	ORPHA:79259
HP:0002014	Diarrhea	915	CD3D	ORPHA:169160
HP:0002014	Diarrhea	916	CD3E	ORPHA:169160
HP:0002014	Diarrhea	919	CD247	ORPHA:169160
HP:0002014	Diarrhea	5994	RFXAP	ORPHA:572
HP:0002014	Diarrhea	4261	CIITA	ORPHA:572
HP:0002014	Diarrhea	5993	RFX5	ORPHA:572
HP:0002014	Diarrhea	8625	RFXANK	ORPHA:572
HP:0002014	Diarrhea	10320	IKZF1	ORPHA:36426
HP:0002014	Diarrhea	3938	LCT	OMIM:223000
HP:0002014	Diarrhea	4128	MAOA	OMIM:300615
HP:0002014	Diarrhea	8260	NAA10	OMIM:300855
HP:0002014	Diarrhea	4358	MPV17	OMIM:256810
HP:0002014	Diarrhea	6718	AKR1D1	OMIM:235555
HP:0002014	Diarrhea	5257	PHKB	ORPHA:79240
HP:0002014	Diarrhea	5257	PHKB	OMIM:261750
HP:0002014	Diarrhea	22845	DOLK	OMIM:610768
HP:0002014	Diarrhea	3431	SP110	ORPHA:79124
HP:0002014	Diarrhea	3158	HMGCS2	OMIM:605911
HP:0002014	Diarrhea	6557	SLC12A1	OMIM:601678
HP:0002014	Diarrhea	3172	HNF4A	ORPHA:263455
HP:0002014	Diarrhea	1760	DMPK	ORPHA:589821
HP:0002014	Diarrhea	55630	SLC39A4	OMIM:201100
HP:0002014	Diarrhea	3569	IL6	OMIM:266600
HP:0002014	Diarrhea	3758	KCNJ1	OMIM:241200
HP:0002014	Diarrhea	3560	IL2RB	OMIM:618495
HP:0002014	Diarrhea	175	AGA	OMIM:208400
HP:0002014	Diarrhea	11280	SCN11A	OMIM:615548
HP:0002014	Diarrhea	9401	RECQL4	OMIM:266280
HP:0002014	Diarrhea	9401	RECQL4	ORPHA:221016
HP:0002014	Diarrhea	80270	HSD3B7	OMIM:607765
HP:0002014	Diarrhea	7454	WAS	OMIM:301000
HP:0002014	Diarrhea	3514	IGKC	OMIM:614102
HP:0002014	Diarrhea	5205	ATP8B1	OMIM:211600
HP:0002014	Diarrhea	9420	CYP7B1	OMIM:613812
HP:0002014	Diarrhea	3575	IL7R	OMIM:608971
HP:0002014	Diarrhea	5293	PIK3CD	ORPHA:221139
HP:0002014	Diarrhea	90417	KNSTRN	ORPHA:221139
HP:0002014	Diarrhea	79783	SUGCT	OMIM:231690
HP:0002014	Diarrhea	374354	NHLRC2	OMIM:618278
HP:0002014	Diarrhea	64711	HS3ST6	OMIM:619367
HP:0002014	Diarrhea	1674	DES	OMIM:601419
HP:0002014	Diarrhea	5294	PIK3CG	OMIM:619802
HP:0002014	Diarrhea	3145	HMBS	OMIM:176000
HP:0002014	Diarrhea	3145	HMBS	ORPHA:79276
HP:0002014	Diarrhea	3033	HADH	ORPHA:71212
HP:0002014	Diarrhea	2799	GNS	OMIM:252940
HP:0002014	Diarrhea	6337	SCNN1A	OMIM:264350
HP:0002014	Diarrhea	1376	CPT2	OMIM:608836
HP:0002014	Diarrhea	4221	MEN1	ORPHA:652
HP:0002014	Diarrhea	4221	MEN1	OMIM:131100
HP:0002014	Diarrhea	1027	CDKN1B	ORPHA:652
HP:0002014	Diarrhea	1027	CDKN1B	ORPHA:276152
HP:0002014	Diarrhea	1026	CDKN1A	ORPHA:652
HP:0002014	Diarrhea	1030	CDKN2B	ORPHA:652
HP:0002014	Diarrhea	1031	CDKN2C	ORPHA:652
HP:0002014	Diarrhea	7482	WNT2B	OMIM:618168
HP:0002014	Diarrhea	210	ALAD	ORPHA:100924
HP:0002014	Diarrhea	72	ACTG2	OMIM:155310
HP:0002014	Diarrhea	551	AVP	ORPHA:30925
HP:0002014	Diarrhea	3458	IFNG	OMIM:618963
HP:0002014	Diarrhea	138050	HGSNAT	OMIM:252930
HP:0002014	Diarrhea	695	BTK	OMIM:307200
HP:0002014	Diarrhea	1371	CPOX	OMIM:121300
HP:0002014	Diarrhea	11011	TLK2	OMIM:618050
HP:0002014	Diarrhea	6850	SYK	OMIM:619381
HP:0002014	Diarrhea	1604	CD55	OMIM:226300
HP:0002014	Diarrhea	118429	ANTXR2	OMIM:228600
HP:0002014	Diarrhea	4689	NCF4	OMIM:613960
HP:0002014	Diarrhea	7388	UQCRH	OMIM:620137
HP:0002014	Diarrhea	4669	NAGLU	OMIM:252920
HP:0002014	Diarrhea	6584	SLC22A5	OMIM:212140
HP:0002014	Diarrhea	64682	ANAPC1	ORPHA:221008
HP:0002014	Diarrhea	3689	ITGB2	OMIM:116920
HP:0002014	Diarrhea	6555	SLC10A2	OMIM:613291
HP:0002014	Diarrhea	3551	IKBKB	OMIM:615592
HP:0002014	Diarrhea	79827	CLMP	OMIM:615237
HP:0002014	Diarrhea	2984	GUCY2C	OMIM:614665
HP:0002014	Diarrhea	2984	GUCY2C	OMIM:614616
HP:0002014	Diarrhea	23394	ADNP	OMIM:615873
HP:0002014	Diarrhea	987	LRBA	OMIM:614700
HP:0002014	Diarrhea	3718	JAK3	OMIM:600802
HP:0002014	Diarrhea	3718	JAK3	ORPHA:35078
HP:0002014	Diarrhea	6651	SON	OMIM:617140
HP:0002014	Diarrhea	6651	SON	ORPHA:500150
HP:0002014	Diarrhea	23149	FCHO1	OMIM:619164
HP:0002014	Diarrhea	51111	KMT5B	OMIM:617788
HP:0002014	Diarrhea	10525	HYOU1	OMIM:233600
HP:0002014	Diarrhea	4792	NFKBIA	OMIM:612132
HP:0002014	Diarrhea	841	CASP8	OMIM:607271
HP:0002014	Diarrhea	472	ATM	OMIM:208900
HP:0002014	Diarrhea	7015	TERT	OMIM:613989
HP:0002014	Diarrhea	427	ASAH1	ORPHA:333
HP:0002014	Diarrhea	7037	TFRC	OMIM:616740
HP:0002014	Diarrhea	537	ATP6AP1	OMIM:300972
HP:0002014	Diarrhea	84876	ORAI1	OMIM:612782
HP:0002014	Diarrhea	1777	DNASE2	OMIM:619858
HP:0002014	Diarrhea	26007	TKFC	OMIM:618805
HP:0002014	Diarrhea	3572	IL6ST	OMIM:618523
HP:0002014	Diarrhea	4547	MTTP	ORPHA:14
HP:0002014	Diarrhea	2068	ERCC2	OMIM:601675
HP:0002014	Diarrhea	5528	PPP2R5D	OMIM:616355
HP:0002014	Diarrhea	5528	PPP2R5D	ORPHA:457279
HP:0002014	Diarrhea	146206	CARMIL2	OMIM:618131
HP:0002014	Diarrhea	57511	COG6	OMIM:614576
HP:0002014	Diarrhea	3981	LIG4	ORPHA:235
HP:0002014	Diarrhea	3981	LIG4	ORPHA:39041
HP:0002014	Diarrhea	54888	NSUN2	ORPHA:235
HP:0002014	Diarrhea	7874	USP7	ORPHA:500055
HP:0002014	Diarrhea	54809	SAMD9	OMIM:617053
HP:0002014	Diarrhea	57003	CCDC47	OMIM:618268
HP:0002014	Diarrhea	10526	IPO8	OMIM:619472
HP:0002014	Diarrhea	7737	RNF113A	OMIM:300953
HP:0002014	Diarrhea	6023	RMRP	ORPHA:39041
HP:0002014	Diarrhea	55636	CHD7	ORPHA:39041
HP:0002014	Diarrhea	3425	IDUA	ORPHA:93473
HP:0002014	Diarrhea	55027	HEATR3	OMIM:620072
HP:0002014	Diarrhea	56052	ALG1	ORPHA:79327
HP:0002014	Diarrhea	123264	SLC51B	OMIM:619481
HP:0002014	Diarrhea	8567	MADD	OMIM:619004
HP:0002014	Diarrhea	8567	MADD	OMIM:619005
HP:0002014	Diarrhea	60468	BACH2	OMIM:618394
HP:0002014	Diarrhea	200931	SLC51A	OMIM:619484
HP:0002014	Diarrhea	11311	VPS45	OMIM:615285
HP:0002014	Diarrhea	83737	ITCH	OMIM:613385
HP:0002014	Diarrhea	6288	SAA1	ORPHA:85445
HP:0002014	Diarrhea	50615	IL21R	OMIM:615207
HP:0002014	Diarrhea	498	ATP5F1A	OMIM:620358
HP:0002014	Diarrhea	917	CD3G	OMIM:615607
HP:0002014	Diarrhea	10551	AGR2	OMIM:620233
HP:0002014	Diarrhea	55343	SLC35C1	ORPHA:99843
HP:0002014	Diarrhea	5422	POLA1	OMIM:301220
HP:0002014	Diarrhea	5966	REL	OMIM:619652
HP:0002014	Diarrhea	5317	PKP1	ORPHA:158668
HP:0002014	Diarrhea	5236	PGM1	OMIM:614921
HP:0002014	Diarrhea	84433	CARD11	OMIM:617638
HP:0002014	Diarrhea	721	C4B	OMIM:614379
HP:0002014	Diarrhea	359948	IRF2BP2	OMIM:617765
HP:0002014	Diarrhea	3559	IL2RA	OMIM:606367
HP:0002014	Diarrhea	9652	SKIC3	ORPHA:84064
HP:0002014	Diarrhea	9652	SKIC3	OMIM:222470
HP:0002014	Diarrhea	4072	EPCAM	OMIM:613217
HP:0002014	Diarrhea	727	C5	OMIM:609536
HP:0002014	Diarrhea	5339	PLEC	OMIM:226730
HP:0002014	Diarrhea	3691	ITGB4	OMIM:226730
HP:0002014	Diarrhea	6603	SMARCD2	OMIM:617475
HP:0002014	Diarrhea	9493	KIF23	ORPHA:98870
HP:0002014	Diarrhea	29127	RACGAP1	ORPHA:98870
HP:0002014	Diarrhea	2184	FAH	OMIM:276700
HP:0002014	Diarrhea	2811	GP1BA	ORPHA:853
HP:0002014	Diarrhea	2812	GP1BB	ORPHA:853
HP:0002014	Diarrhea	3674	ITGA2B	ORPHA:853
HP:0002014	Diarrhea	3673	ITGA2	ORPHA:853
HP:0002014	Diarrhea	135228	CD109	ORPHA:853
HP:0002014	Diarrhea	3690	ITGB3	ORPHA:853
HP:0002014	Diarrhea	25839	COG4	ORPHA:263501
HP:0002014	Diarrhea	1616	DAXX	ORPHA:100075
HP:0002014	Diarrhea	546	ATRX	ORPHA:100075
HP:0002014	Diarrhea	535	ATP6V0A1	OMIM:619971
HP:0002014	Diarrhea	57169	ZNFX1	OMIM:619644
HP:0002014	Diarrhea	672	BRCA1	ORPHA:1333
HP:0002014	Diarrhea	285282	RABL3	ORPHA:1333
HP:0002014	Diarrhea	7157	TP53	ORPHA:1333
HP:0002014	Diarrhea	675	BRCA2	ORPHA:1333
HP:0002014	Diarrhea	3845	KRAS	ORPHA:1333
HP:0002014	Diarrhea	1029	CDKN2A	ORPHA:1333
HP:0002014	Diarrhea	79728	PALB2	ORPHA:1333
HP:0002014	Diarrhea	23022	PALLD	ORPHA:1333
HP:0002014	Diarrhea	2538	G6PC1	OMIM:232200
HP:0002014	Diarrhea	1794	DOCK2	OMIM:616433
HP:0002014	Diarrhea	2627	GATA6	ORPHA:2255
HP:0002014	Diarrhea	94	ACVRL1	OMIM:600376
HP:0002014	Diarrhea	83483	PLVAP	OMIM:618183
HP:0002014	Diarrhea	2022	ENG	OMIM:187300
HP:0002014	Diarrhea	2022	ENG	ORPHA:329971
HP:0002014	Diarrhea	57551	TAOK1	OMIM:619575
HP:0002014	Diarrhea	57217	TTC7A	OMIM:243150
HP:0002014	Diarrhea	26585	GREM1	ORPHA:157794
HP:0002014	Diarrhea	10616	RBCK1	OMIM:615895
HP:0002014	Diarrhea	3257	HPS1	OMIM:203300
HP:0002014	Diarrhea	7456	WIPF1	ORPHA:906
HP:0002014	Diarrhea	23600	AMACR	OMIM:214950
HP:0002014	Diarrhea	23600	AMACR	ORPHA:79095
HP:0002014	Diarrhea	10095	ARPC1B	OMIM:617718
HP:0002014	Diarrhea	2153	F5	ORPHA:326
HP:0002014	Diarrhea	3587	IL10RA	OMIM:613148
HP:0002014	Diarrhea	6392	SDHD	ORPHA:100093
HP:0002014	Diarrhea	58484	NLRC4	OMIM:616050
HP:0002014	Diarrhea	55898	UNC45A	OMIM:619377
HP:0002014	Diarrhea	6578	SLCO2A1	OMIM:614441
HP:0002014	Diarrhea	6578	SLCO2A1	OMIM:167100
HP:0002014	Diarrhea	50619	DEF6	OMIM:619573
HP:0002014	Diarrhea	50943	FOXP3	ORPHA:37042
HP:0002014	Diarrhea	6550	SLC9A3	OMIM:616868
HP:0002014	Diarrhea	1811	SLC26A3	OMIM:214700
HP:0002014	Diarrhea	10653	SPINT2	OMIM:270420
HP:0002014	Diarrhea	22900	CARD8	OMIM:619079
HP:0002014	Diarrhea	27178	IL37	OMIM:619398
HP:0002014	Diarrhea	1355	COX15	OMIM:615119
HP:0002014	Diarrhea	5297	PI4KA	ORPHA:436252
HP:0002014	Diarrhea	6868	ADAM17	OMIM:614328
HP:0002014	Diarrhea	6868	ADAM17	ORPHA:294023
HP:0002014	Diarrhea	6794	STK11	OMIM:175200
HP:0002014	Diarrhea	1956	EGFR	ORPHA:294023
HP:0002014	Diarrhea	59067	IL21	OMIM:615767
HP:0002015	Dysphagia	1497	CTNS	OMIM:219800
HP:0002015	Dysphagia	2673	GFPT1	OMIM:608931
HP:0002015	Dysphagia	1145	CHRNE	OMIM:608931
HP:0002015	Dysphagia	1145	CHRNE	OMIM:605809
HP:0002015	Dysphagia	1410	CRYAB	OMIM:608810
HP:0002015	Dysphagia	1410	CRYAB	ORPHA:399058
HP:0002015	Dysphagia	4287	ATXN3	OMIM:109150
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276238
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276244
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276241
HP:0002015	Dysphagia	55703	POLR3B	OMIM:614381
HP:0002015	Dysphagia	55703	POLR3B	OMIM:607694
HP:0002015	Dysphagia	26235	FBXL4	OMIM:615471
HP:0002015	Dysphagia	1144	CHRND	OMIM:616321
HP:0002015	Dysphagia	1144	CHRND	OMIM:616323
HP:0002015	Dysphagia	4750	NEK1	OMIM:617892
HP:0002015	Dysphagia	23446	SLC44A1	OMIM:618868
HP:0002015	Dysphagia	4593	MUSK	OMIM:616325
HP:0002015	Dysphagia	2720	GLB1	OMIM:230600
HP:0002015	Dysphagia	1134	CHRNA1	OMIM:608930
HP:0002015	Dysphagia	1134	CHRNA1	OMIM:601462
HP:0002015	Dysphagia	57679	ALS2	ORPHA:247604
HP:0002015	Dysphagia	57679	ALS2	OMIM:205100
HP:0002015	Dysphagia	57679	ALS2	ORPHA:300605
HP:0002015	Dysphagia	57679	ALS2	OMIM:607225
HP:0002015	Dysphagia	57679	ALS2	OMIM:606353
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:247604
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:280384
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:209951
HP:0002015	Dysphagia	9499	MYOT	ORPHA:266
HP:0002015	Dysphagia	5339	PLEC	ORPHA:254361
HP:0002015	Dysphagia	6687	SPG7	ORPHA:99013
HP:0002015	Dysphagia	6687	SPG7	OMIM:607259
HP:0002015	Dysphagia	6687	SPG7	ORPHA:35689
HP:0002015	Dysphagia	8291	DYSF	ORPHA:268
HP:0002015	Dysphagia	4535	MT-ND1	ORPHA:255210
HP:0002015	Dysphagia	4536	MT-ND2	ORPHA:255210
HP:0002015	Dysphagia	4537	MT-ND3	ORPHA:255210
HP:0002015	Dysphagia	4538	MT-ND4	ORPHA:255210
HP:0002015	Dysphagia	4567	MT-TL1	ORPHA:255210
HP:0002015	Dysphagia	4578	MT-TW	ORPHA:255210
HP:0002015	Dysphagia	4577	MT-TV	ORPHA:255210
HP:0002015	Dysphagia	4508	MT-ATP6	ORPHA:255210
HP:0002015	Dysphagia	4508	MT-ATP6	ORPHA:225154
HP:0002015	Dysphagia	4540	MT-ND5	ORPHA:255210
HP:0002015	Dysphagia	4541	MT-ND6	ORPHA:255210
HP:0002015	Dysphagia	4566	MT-TK	ORPHA:255210
HP:0002015	Dysphagia	4312	MMP1	ORPHA:79408
HP:0002015	Dysphagia	4312	MMP1	OMIM:226600
HP:0002015	Dysphagia	1294	COL7A1	ORPHA:79408
HP:0002015	Dysphagia	1294	COL7A1	OMIM:226600
HP:0002015	Dysphagia	1294	COL7A1	ORPHA:89842
HP:0002015	Dysphagia	3074	HEXB	ORPHA:309162
HP:0002015	Dysphagia	3074	HEXB	ORPHA:309169
HP:0002015	Dysphagia	79577	CDC73	ORPHA:143
HP:0002015	Dysphagia	79577	CDC73	ORPHA:99880
HP:0002015	Dysphagia	65993	MRPS34	OMIM:617664
HP:0002015	Dysphagia	6536	SLC6A9	OMIM:617301
HP:0002015	Dysphagia	10528	NOP56	OMIM:614153
HP:0002015	Dysphagia	10528	NOP56	ORPHA:276198
HP:0002015	Dysphagia	101060691	NUTM2B-AS1	OMIM:618637
HP:0002015	Dysphagia	1841	DTYMK	OMIM:619847
HP:0002015	Dysphagia	790	CAD	OMIM:616457
HP:0002015	Dysphagia	84466	MEGF10	OMIM:614399
HP:0002015	Dysphagia	51112	TRAPPC12	OMIM:617669
HP:0002015	Dysphagia	51112	TRAPPC12	ORPHA:500144
HP:0002015	Dysphagia	3908	LAMA2	ORPHA:258
HP:0002015	Dysphagia	5189	PEX1	OMIM:214100
HP:0002015	Dysphagia	5428	POLG	ORPHA:298
HP:0002015	Dysphagia	5428	POLG	ORPHA:254892
HP:0002015	Dysphagia	5428	POLG	OMIM:258450
HP:0002015	Dysphagia	5428	POLG	ORPHA:254886
HP:0002015	Dysphagia	5428	POLG	OMIM:157640
HP:0002015	Dysphagia	5428	POLG	ORPHA:94125
HP:0002015	Dysphagia	5428	POLG	OMIM:607459
HP:0002015	Dysphagia	5428	POLG	OMIM:603041
HP:0002015	Dysphagia	1890	TYMP	ORPHA:298
HP:0002015	Dysphagia	1890	TYMP	OMIM:603041
HP:0002015	Dysphagia	3980	LIG3	ORPHA:298
HP:0002015	Dysphagia	3980	LIG3	OMIM:619780
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:298
HP:0002015	Dysphagia	50484	RRM2B	OMIM:613077
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:254892
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:329336
HP:0002015	Dysphagia	8575	PRKRA	ORPHA:210571
HP:0002015	Dysphagia	8575	PRKRA	OMIM:612067
HP:0002015	Dysphagia	79147	FKRP	OMIM:606612
HP:0002015	Dysphagia	348	APOE	OMIM:607822
HP:0002015	Dysphagia	5663	PSEN1	OMIM:607822
HP:0002015	Dysphagia	215	ABCD1	ORPHA:139396
HP:0002015	Dysphagia	7343	UBTF	OMIM:617672
HP:0002015	Dysphagia	7343	UBTF	ORPHA:500180
HP:0002015	Dysphagia	10352	WARS2	OMIM:619738
HP:0002015	Dysphagia	10352	WARS2	ORPHA:572798
HP:0002015	Dysphagia	3064	HTT	OMIM:617435
HP:0002015	Dysphagia	10939	AFG3L2	ORPHA:313772
HP:0002015	Dysphagia	10939	AFG3L2	OMIM:614487
HP:0002015	Dysphagia	83480	PUS3	ORPHA:488627
HP:0002015	Dysphagia	5621	PRNP	OMIM:600072
HP:0002015	Dysphagia	10049	DNAJB6	ORPHA:34516
HP:0002015	Dysphagia	10049	DNAJB6	OMIM:603511
HP:0002015	Dysphagia	4620	MYH2	OMIM:605637
HP:0002015	Dysphagia	857	CAV1	OMIM:606721
HP:0002015	Dysphagia	857	CAV1	ORPHA:220402
HP:0002015	Dysphagia	857	CAV1	ORPHA:220393
HP:0002015	Dysphagia	10935	PRDX3	OMIM:619862
HP:0002015	Dysphagia	4297	KMT2A	ORPHA:319182
HP:0002015	Dysphagia	246243	RNASEH1	OMIM:616479
HP:0002015	Dysphagia	246243	RNASEH1	ORPHA:329336
HP:0002015	Dysphagia	80208	SPG11	ORPHA:2822
HP:0002015	Dysphagia	80208	SPG11	ORPHA:300605
HP:0002015	Dysphagia	80208	SPG11	OMIM:604360
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93926
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93924
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93925
HP:0002015	Dysphagia	28514	DLL1	ORPHA:280195
HP:0002015	Dysphagia	28514	DLL1	ORPHA:220386
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93926
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93924
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93925
HP:0002015	Dysphagia	2253	FGF8	ORPHA:280195
HP:0002015	Dysphagia	2253	FGF8	ORPHA:220386
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93926
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93924
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93925
HP:0002015	Dysphagia	6496	SIX3	ORPHA:280195
HP:0002015	Dysphagia	6496	SIX3	ORPHA:220386
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93926
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93924
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93925
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:280195
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:220386
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93926
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93924
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93925
HP:0002015	Dysphagia	4838	NODAL	ORPHA:280195
HP:0002015	Dysphagia	4838	NODAL	ORPHA:220386
HP:0002015	Dysphagia	6469	SHH	ORPHA:93926
HP:0002015	Dysphagia	6469	SHH	ORPHA:93924
HP:0002015	Dysphagia	6469	SHH	ORPHA:93925
HP:0002015	Dysphagia	6469	SHH	ORPHA:280195
HP:0002015	Dysphagia	6469	SHH	ORPHA:220386
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93926
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93924
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93925
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:280195
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:220386
HP:0002015	Dysphagia	6491	STIL	ORPHA:93926
HP:0002015	Dysphagia	6491	STIL	ORPHA:93924
HP:0002015	Dysphagia	6491	STIL	ORPHA:93925
HP:0002015	Dysphagia	6491	STIL	ORPHA:280195
HP:0002015	Dysphagia	6491	STIL	ORPHA:220386
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93926
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93924
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93925
HP:0002015	Dysphagia	2619	GAS1	ORPHA:280195
HP:0002015	Dysphagia	2619	GAS1	ORPHA:220386
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93926
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93924
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93925
HP:0002015	Dysphagia	84976	DISP1	ORPHA:280195
HP:0002015	Dysphagia	84976	DISP1	ORPHA:220386
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93926
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93924
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93925
HP:0002015	Dysphagia	2736	GLI2	ORPHA:280195
HP:0002015	Dysphagia	2736	GLI2	ORPHA:220386
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93926
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93924
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93925
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:280195
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:220386
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93926
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93924
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93925
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:280195
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:220386
HP:0002015	Dysphagia	50937	CDON	ORPHA:93926
HP:0002015	Dysphagia	50937	CDON	ORPHA:93924
HP:0002015	Dysphagia	50937	CDON	ORPHA:93925
HP:0002015	Dysphagia	50937	CDON	ORPHA:280195
HP:0002015	Dysphagia	50937	CDON	ORPHA:220386
HP:0002015	Dysphagia	2783	GNB2	OMIM:619503
HP:0002015	Dysphagia	2260	FGFR1	ORPHA:93924
HP:0002015	Dysphagia	2260	FGFR1	ORPHA:220386
HP:0002015	Dysphagia	23007	PLCH1	ORPHA:93925
HP:0002015	Dysphagia	10735	STAG2	ORPHA:93925
HP:0002015	Dysphagia	10735	STAG2	ORPHA:220386
HP:0002015	Dysphagia	950	SCARB2	OMIM:254900
HP:0002015	Dysphagia	9897	WASHC5	OMIM:603563
HP:0002015	Dysphagia	8398	PLA2G6	ORPHA:199351
HP:0002015	Dysphagia	8398	PLA2G6	OMIM:610217
HP:0002015	Dysphagia	8622	PDE8B	ORPHA:228169
HP:0002015	Dysphagia	253738	EBF3	OMIM:617330
HP:0002015	Dysphagia	3572	IL6ST	OMIM:619751
HP:0002015	Dysphagia	2911	GRM1	OMIM:617691
HP:0002015	Dysphagia	55773	TBC1D23	OMIM:617695
HP:0002015	Dysphagia	23259	DDHD2	OMIM:615033
HP:0002015	Dysphagia	23259	DDHD2	ORPHA:320380
HP:0002015	Dysphagia	54902	TTC19	OMIM:615157
HP:0002015	Dysphagia	2643	GCH1	OMIM:233910
HP:0002015	Dysphagia	55823	VPS11	OMIM:619637
HP:0002015	Dysphagia	5590	PRKCZ	ORPHA:1606
HP:0002015	Dysphagia	2563	GABRD	ORPHA:1606
HP:0002015	Dysphagia	23013	SPEN	ORPHA:1606
HP:0002015	Dysphagia	23013	SPEN	OMIM:619312
HP:0002015	Dysphagia	8510	MMP23B	ORPHA:1606
HP:0002015	Dysphagia	7798	LUZP1	ORPHA:1606
HP:0002015	Dysphagia	6497	SKI	ORPHA:1606
HP:0002015	Dysphagia	10630	PDPN	ORPHA:1606
HP:0002015	Dysphagia	3339	HSPG2	ORPHA:1606
HP:0002015	Dysphagia	10277	UBE4B	ORPHA:1606
HP:0002015	Dysphagia	8514	KCNAB2	ORPHA:1606
HP:0002015	Dysphagia	473	RERE	ORPHA:1606
HP:0002015	Dysphagia	473	RERE	ORPHA:494344
HP:0002015	Dysphagia	63976	PRDM16	ORPHA:1606
HP:0002015	Dysphagia	54897	CASZ1	ORPHA:1606
HP:0002015	Dysphagia	8659	ALDH4A1	ORPHA:79101
HP:0002015	Dysphagia	1180	CLCN1	OMIM:255700
HP:0002015	Dysphagia	58	ACTA1	OMIM:161800
HP:0002015	Dysphagia	58	ACTA1	ORPHA:171433
HP:0002015	Dysphagia	58	ACTA1	ORPHA:171430
HP:0002015	Dysphagia	58	ACTA1	ORPHA:2020
HP:0002015	Dysphagia	5860	QDPR	ORPHA:226
HP:0002015	Dysphagia	5860	QDPR	OMIM:261630
HP:0002015	Dysphagia	7750	ZMYM2	OMIM:619522
HP:0002015	Dysphagia	56947	MFF	ORPHA:485421
HP:0002015	Dysphagia	56947	MFF	OMIM:617086
HP:0002015	Dysphagia	10342	TFG	ORPHA:90117
HP:0002015	Dysphagia	57462	MYORG	OMIM:618317
HP:0002015	Dysphagia	9562	MINPP1	OMIM:619527
HP:0002015	Dysphagia	540	ATP7B	OMIM:277900
HP:0002015	Dysphagia	56652	TWNK	OMIM:271245
HP:0002015	Dysphagia	56652	TWNK	ORPHA:254892
HP:0002015	Dysphagia	56652	TWNK	OMIM:609286
HP:0002015	Dysphagia	56652	TWNK	OMIM:607459
HP:0002015	Dysphagia	23314	SATB2	ORPHA:576283
HP:0002015	Dysphagia	4626	MYH8	OMIM:158300
HP:0002015	Dysphagia	4854	NOTCH3	ORPHA:136
HP:0002015	Dysphagia	57724	EPG5	OMIM:242840
HP:0002015	Dysphagia	1436	CSF1R	OMIM:221820
HP:0002015	Dysphagia	5354	PLP1	OMIM:312080
HP:0002015	Dysphagia	55612	FERMT1	ORPHA:2908
HP:0002015	Dysphagia	55612	FERMT1	OMIM:173650
HP:0002015	Dysphagia	6843	VAMP1	OMIM:618323
HP:0002015	Dysphagia	6843	VAMP1	ORPHA:251282
HP:0002015	Dysphagia	6843	VAMP1	OMIM:108600
HP:0002015	Dysphagia	6843	VAMP1	ORPHA:98914
HP:0002015	Dysphagia	4123	MAN2C1	OMIM:619775
HP:0002015	Dysphagia	3798	KIF5A	OMIM:617235
HP:0002015	Dysphagia	339855	KY	OMIM:617114
HP:0002015	Dysphagia	339855	KY	ORPHA:496689
HP:0002015	Dysphagia	79977	GRHL2	OMIM:616029
HP:0002015	Dysphagia	7994	KAT6A	OMIM:616268
HP:0002015	Dysphagia	23499	MACF1	OMIM:618325
HP:0002015	Dysphagia	23499	MACF1	ORPHA:572013
HP:0002015	Dysphagia	23219	FBXO28	OMIM:619777
HP:0002015	Dysphagia	2055	CLN8	ORPHA:1947
HP:0002015	Dysphagia	51322	WAC	ORPHA:466950
HP:0002015	Dysphagia	5837	PYGM	ORPHA:368
HP:0002015	Dysphagia	2512	FTL	ORPHA:157846
HP:0002015	Dysphagia	2512	FTL	OMIM:606159
HP:0002015	Dysphagia	2629	GBA1	ORPHA:77260
HP:0002015	Dysphagia	2629	GBA1	OMIM:230900
HP:0002015	Dysphagia	2629	GBA1	OMIM:168600
HP:0002015	Dysphagia	2629	GBA1	OMIM:608013
HP:0002015	Dysphagia	2629	GBA1	ORPHA:411602
HP:0002015	Dysphagia	10533	ATG7	OMIM:619422
HP:0002015	Dysphagia	51117	COQ4	OMIM:616276
HP:0002015	Dysphagia	120	ADD3	OMIM:617008
HP:0002015	Dysphagia	27429	HTRA2	OMIM:617248
HP:0002015	Dysphagia	5081	PAX7	OMIM:618578
HP:0002015	Dysphagia	1674	DES	OMIM:181400
HP:0002015	Dysphagia	79751	SLC25A22	ORPHA:1935
HP:0002015	Dysphagia	150094	SIK1	ORPHA:1935
HP:0002015	Dysphagia	4001	LMNB1	ORPHA:99027
HP:0002015	Dysphagia	389827	MYMK	OMIM:254940
HP:0002015	Dysphagia	2639	GCDH	ORPHA:25
HP:0002015	Dysphagia	291	SLC25A4	ORPHA:254892
HP:0002015	Dysphagia	11232	POLG2	ORPHA:254892
HP:0002015	Dysphagia	4487	MSX1	ORPHA:141291
HP:0002015	Dysphagia	5818	NECTIN1	ORPHA:141291
HP:0002015	Dysphagia	8626	TP63	ORPHA:141291
HP:0002015	Dysphagia	3664	IRF6	ORPHA:141291
HP:0002015	Dysphagia	353116	RILPL1	OMIM:619790
HP:0002015	Dysphagia	23111	SPART	OMIM:275900
HP:0002015	Dysphagia	23111	SPART	ORPHA:101000
HP:0002015	Dysphagia	4137	MAPT	OMIM:601104
HP:0002015	Dysphagia	4137	MAPT	ORPHA:240112
HP:0002015	Dysphagia	4137	MAPT	ORPHA:240103
HP:0002015	Dysphagia	4137	MAPT	OMIM:168600
HP:0002015	Dysphagia	1499	CTNNB1	OMIM:615075
HP:0002015	Dysphagia	2775	GNAO1	OMIM:617493
HP:0002015	Dysphagia	56896	DPYSL5	OMIM:619435
HP:0002015	Dysphagia	54892	NCAPG2	OMIM:618460
HP:0002015	Dysphagia	1859	DYRK1A	ORPHA:268261
HP:0002015	Dysphagia	79912	PYROXD1	OMIM:617258
HP:0002015	Dysphagia	4719	NDUFS1	OMIM:618226
HP:0002015	Dysphagia	4703	NEB	OMIM:256030
HP:0002015	Dysphagia	4703	NEB	ORPHA:171433
HP:0002015	Dysphagia	4703	NEB	ORPHA:171430
HP:0002015	Dysphagia	1235	CCR6	ORPHA:220402
HP:0002015	Dysphagia	1235	CCR6	ORPHA:220393
HP:0002015	Dysphagia	79932	KIAA0319L	ORPHA:220402
HP:0002015	Dysphagia	1490	CCN2	ORPHA:220402
HP:0002015	Dysphagia	1490	CCN2	ORPHA:220393
HP:0002015	Dysphagia	3663	IRF5	ORPHA:220402
HP:0002015	Dysphagia	3663	IRF5	ORPHA:220393
HP:0002015	Dysphagia	3123	HLA-DRB1	ORPHA:220402
HP:0002015	Dysphagia	3123	HLA-DRB1	ORPHA:220393
HP:0002015	Dysphagia	170302	ARX	OMIM:308350
HP:0002015	Dysphagia	91942	NDUFAF2	OMIM:618233
HP:0002015	Dysphagia	60482	SLC5A7	OMIM:617143
HP:0002015	Dysphagia	60482	SLC5A7	ORPHA:98914
HP:0002015	Dysphagia	7084	TK2	ORPHA:254886
HP:0002015	Dysphagia	7084	TK2	ORPHA:254875
HP:0002015	Dysphagia	7084	TK2	OMIM:617069
HP:0002015	Dysphagia	81790	RNF170	OMIM:619686
HP:0002015	Dysphagia	84909	AOPEP	OMIM:619565
HP:0002015	Dysphagia	478	ATP1A3	OMIM:601338
HP:0002015	Dysphagia	478	ATP1A3	OMIM:128235
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:1171
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:2131
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:71517
HP:0002015	Dysphagia	283989	TSEN54	OMIM:225753
HP:0002015	Dysphagia	283989	TSEN54	OMIM:277470
HP:0002015	Dysphagia	25814	ATXN10	OMIM:603516
HP:0002015	Dysphagia	5649	RELN	ORPHA:89844
HP:0002015	Dysphagia	10300	KATNB1	ORPHA:89844
HP:0002015	Dysphagia	54820	NDE1	ORPHA:89844
HP:0002015	Dysphagia	4722	NDUFS3	OMIM:618230
HP:0002015	Dysphagia	3930	LBR	ORPHA:779
HP:0002015	Dysphagia	710	SERPING1	ORPHA:100050
HP:0002015	Dysphagia	1760	DMPK	OMIM:160900
HP:0002015	Dysphagia	1760	DMPK	ORPHA:589821
HP:0002015	Dysphagia	387119	CEP85L	ORPHA:572013
HP:0002015	Dysphagia	6904	TBCD	ORPHA:496641
HP:0002015	Dysphagia	427	ASAH1	OMIM:159950
HP:0002015	Dysphagia	427	ASAH1	ORPHA:2590
HP:0002015	Dysphagia	10059	DNM1L	ORPHA:98673
HP:0002015	Dysphagia	4976	OPA1	ORPHA:98673
HP:0002015	Dysphagia	4976	OPA1	OMIM:210000
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:98794
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:98795
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:411511
HP:0002015	Dysphagia	4948	OCA2	ORPHA:98794
HP:0002015	Dysphagia	5980	REV3L	ORPHA:570
HP:0002015	Dysphagia	23129	PLXND1	ORPHA:570
HP:0002015	Dysphagia	65055	REEP1	ORPHA:101011
HP:0002015	Dysphagia	65055	REEP1	OMIM:610250
HP:0002015	Dysphagia	351	APP	ORPHA:324708
HP:0002015	Dysphagia	56915	EXOSC5	OMIM:619576
HP:0002015	Dysphagia	51132	RLIM	OMIM:300978
HP:0002015	Dysphagia	10588	MTHFS	OMIM:618367
HP:0002015	Dysphagia	4704	NDUFA9	OMIM:618247
HP:0002015	Dysphagia	29978	UBQLN2	OMIM:300857
HP:0002015	Dysphagia	8260	NAA10	OMIM:300855
HP:0002015	Dysphagia	182	JAG1	OMIM:619574
HP:0002015	Dysphagia	7170	TPM3	OMIM:609284
HP:0002015	Dysphagia	7170	TPM3	ORPHA:171433
HP:0002015	Dysphagia	7170	TPM3	ORPHA:2020
HP:0002015	Dysphagia	7170	TPM3	OMIM:255310
HP:0002015	Dysphagia	54834	GDAP2	OMIM:618369
HP:0002015	Dysphagia	1201	CLN3	ORPHA:228346
HP:0002015	Dysphagia	4864	NPC1	OMIM:257220
HP:0002015	Dysphagia	5277	PIGA	ORPHA:447
HP:0002015	Dysphagia	2131	EXT1	ORPHA:321
HP:0002015	Dysphagia	2132	EXT2	ORPHA:321
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:684
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:99735
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:99736
HP:0002015	Dysphagia	5805	PTS	ORPHA:13
HP:0002015	Dysphagia	5805	PTS	OMIM:261640
HP:0002015	Dysphagia	22827	PUF60	ORPHA:508488
HP:0002015	Dysphagia	51102	MECR	OMIM:617282
HP:0002015	Dysphagia	51102	MECR	ORPHA:508093
HP:0002015	Dysphagia	51324	SPG21	ORPHA:101001
HP:0002015	Dysphagia	51324	SPG21	OMIM:248900
HP:0002015	Dysphagia	5631	PRPS1	OMIM:301835
HP:0002015	Dysphagia	3977	LIFR	OMIM:601559
HP:0002015	Dysphagia	2906	GRIN2D	OMIM:617162
HP:0002015	Dysphagia	127833	SYT2	OMIM:619461
HP:0002015	Dysphagia	127833	SYT2	ORPHA:98914
HP:0002015	Dysphagia	146206	CARMIL2	OMIM:618131
HP:0002015	Dysphagia	1822	ATN1	OMIM:618494
HP:0002015	Dysphagia	2705	GJB1	OMIM:302800
HP:0002015	Dysphagia	4761	NEUROD2	OMIM:618374
HP:0002015	Dysphagia	4700	NDUFA6	OMIM:618253
HP:0002015	Dysphagia	51305	KCNK9	ORPHA:166108
HP:0002015	Dysphagia	51305	KCNK9	OMIM:612292
HP:0002015	Dysphagia	1200	TPP1	OMIM:609270
HP:0002015	Dysphagia	6304	SATB1	OMIM:619229
HP:0002015	Dysphagia	220296	HEPACAM	OMIM:613925
HP:0002015	Dysphagia	26040	SETBP1	ORPHA:798
HP:0002015	Dysphagia	3028	HSD17B10	ORPHA:391428
HP:0002015	Dysphagia	4629	MYH11	OMIM:619350
HP:0002015	Dysphagia	9757	KMT2B	ORPHA:589618
HP:0002015	Dysphagia	6390	SDHB	ORPHA:97286
HP:0002015	Dysphagia	6390	SDHB	ORPHA:44890
HP:0002015	Dysphagia	6390	SDHB	OMIM:606764
HP:0002015	Dysphagia	6391	SDHC	ORPHA:97286
HP:0002015	Dysphagia	6391	SDHC	ORPHA:44890
HP:0002015	Dysphagia	6391	SDHC	OMIM:606764
HP:0002015	Dysphagia	6392	SDHD	ORPHA:97286
HP:0002015	Dysphagia	55975	KLHL7	OMIM:617055
HP:0002015	Dysphagia	55697	VAC14	OMIM:617054
HP:0002015	Dysphagia	10526	IPO8	OMIM:619472
HP:0002015	Dysphagia	100996717	NOTCH2NLC	OMIM:619473
HP:0002015	Dysphagia	2318	FLNC	ORPHA:63273
HP:0002015	Dysphagia	7345	UCHL1	OMIM:620221
HP:0002015	Dysphagia	283446	MYO1H	OMIM:619482
HP:0002015	Dysphagia	7204	TRIO	OMIM:617061
HP:0002015	Dysphagia	8567	MADD	OMIM:619004
HP:0002015	Dysphagia	29123	ANKRD11	ORPHA:261250
HP:0002015	Dysphagia	23230	VPS13A	OMIM:200150
HP:0002015	Dysphagia	23230	VPS13A	ORPHA:2388
HP:0002015	Dysphagia	498	ATP5F1A	OMIM:620358
HP:0002015	Dysphagia	2799	GNS	OMIM:252940
HP:0002015	Dysphagia	673	BRAF	OMIM:613706
HP:0002015	Dysphagia	1893	ECM1	ORPHA:530
HP:0002015	Dysphagia	1716	DGUOK	OMIM:617070
HP:0002015	Dysphagia	1716	DGUOK	ORPHA:329314
HP:0002015	Dysphagia	23636	NUP62	ORPHA:225154
HP:0002015	Dysphagia	23636	NUP62	OMIM:271930
HP:0002015	Dysphagia	103	ADAR	ORPHA:225154
HP:0002015	Dysphagia	72	ACTG2	OMIM:155310
HP:0002015	Dysphagia	10479	SLC9A6	ORPHA:85278
HP:0002015	Dysphagia	10479	SLC9A6	OMIM:300243
HP:0002015	Dysphagia	6389	SDHA	ORPHA:44890
HP:0002015	Dysphagia	5156	PDGFRA	ORPHA:44890
HP:0002015	Dysphagia	3815	KIT	ORPHA:44890
HP:0002015	Dysphagia	3815	KIT	OMIM:606764
HP:0002015	Dysphagia	1984	EIF5A	OMIM:619376
HP:0002015	Dysphagia	10273	STUB1	ORPHA:412057
HP:0002015	Dysphagia	10273	STUB1	OMIM:618093
HP:0002015	Dysphagia	7415	VCP	OMIM:613954
HP:0002015	Dysphagia	7415	VCP	ORPHA:275872
HP:0002015	Dysphagia	79651	RHBDF2	ORPHA:2198
HP:0002015	Dysphagia	138050	HGSNAT	OMIM:252930
HP:0002015	Dysphagia	84081	NSRP1	OMIM:620001
HP:0002015	Dysphagia	5216	PFN1	OMIM:614808
HP:0002015	Dysphagia	1678	TIMM8A	ORPHA:52368
HP:0002015	Dysphagia	1678	TIMM8A	OMIM:304700
HP:0002015	Dysphagia	4914	NTRK1	ORPHA:642
HP:0002015	Dysphagia	64432	MRPS25	OMIM:619025
HP:0002015	Dysphagia	84842	HPDL	OMIM:619027
HP:0002015	Dysphagia	2747	GLUD2	OMIM:168600
HP:0002015	Dysphagia	126	ADH1C	OMIM:168600
HP:0002015	Dysphagia	4929	NR4A2	OMIM:168600
HP:0002015	Dysphagia	6908	TBP	OMIM:168600
HP:0002015	Dysphagia	6908	TBP	OMIM:607136
HP:0002015	Dysphagia	4576	MT-TT	OMIM:168600
HP:0002015	Dysphagia	9627	SNCAIP	OMIM:168600
HP:0002015	Dysphagia	6311	ATXN2	OMIM:168600
HP:0002015	Dysphagia	6311	ATXN2	OMIM:183090
HP:0002015	Dysphagia	6315	ATXN8OS	OMIM:168600
HP:0002015	Dysphagia	6315	ATXN8OS	ORPHA:98760
HP:0002015	Dysphagia	6315	ATXN8OS	OMIM:608768
HP:0002015	Dysphagia	4771	NF2	ORPHA:637
HP:0002015	Dysphagia	6622	SNCA	OMIM:168601
HP:0002015	Dysphagia	6622	SNCA	ORPHA:171695
HP:0002015	Dysphagia	6622	SNCA	ORPHA:411602
HP:0002015	Dysphagia	5605	MAP2K2	ORPHA:638
HP:0002015	Dysphagia	4763	NF1	ORPHA:638
HP:0002015	Dysphagia	10128	LRPPRC	OMIM:220111
HP:0002015	Dysphagia	10128	LRPPRC	ORPHA:70472
HP:0002015	Dysphagia	773	CACNA1A	OMIM:183086
HP:0002015	Dysphagia	773	CACNA1A	ORPHA:2131
HP:0002015	Dysphagia	773	CACNA1A	ORPHA:98758
HP:0002015	Dysphagia	80308	FLAD1	OMIM:255100
HP:0002015	Dysphagia	9782	MATR3	OMIM:606070
HP:0002015	Dysphagia	9782	MATR3	ORPHA:600
HP:0002015	Dysphagia	400916	CHCHD10	OMIM:615911
HP:0002015	Dysphagia	400916	CHCHD10	ORPHA:275872
HP:0002015	Dysphagia	400916	CHCHD10	ORPHA:276435
HP:0002015	Dysphagia	775	CACNA1C	OMIM:620029
HP:0002015	Dysphagia	2521	FUS	ORPHA:275872
HP:0002015	Dysphagia	2521	FUS	ORPHA:300605
HP:0002015	Dysphagia	8878	SQSTM1	ORPHA:275872
HP:0002015	Dysphagia	8878	SQSTM1	OMIM:616437
HP:0002015	Dysphagia	23435	TARDBP	ORPHA:275872
HP:0002015	Dysphagia	23435	TARDBP	OMIM:612069
HP:0002015	Dysphagia	29110	TBK1	ORPHA:275872
HP:0002015	Dysphagia	29110	TBK1	OMIM:616439
HP:0002015	Dysphagia	5111	PCNA	OMIM:615919
HP:0002015	Dysphagia	4758	NEU1	ORPHA:93399
HP:0002015	Dysphagia	79581	SLC52A2	OMIM:614707
HP:0002015	Dysphagia	5660	PSAP	OMIM:249900
HP:0002015	Dysphagia	4281	MID1	OMIM:300000
HP:0002015	Dysphagia	4281	MID1	ORPHA:2745
HP:0002015	Dysphagia	10324	KLHL41	ORPHA:171433
HP:0002015	Dysphagia	10324	KLHL41	ORPHA:171430
HP:0002015	Dysphagia	131377	KLHL40	ORPHA:171430
HP:0002015	Dysphagia	131377	KLHL40	OMIM:615348
HP:0002015	Dysphagia	56203	LMOD3	ORPHA:171430
HP:0002015	Dysphagia	4649	MYO9A	OMIM:618198
HP:0002015	Dysphagia	4649	MYO9A	ORPHA:98914
HP:0002015	Dysphagia	4010	LMX1B	ORPHA:495818
HP:0002015	Dysphagia	6812	STXBP1	ORPHA:495818
HP:0002015	Dysphagia	271	AMPD2	OMIM:615809
HP:0002015	Dysphagia	3119	HLA-DQB1	ORPHA:930
HP:0002015	Dysphagia	9244	CRLF1	ORPHA:930
HP:0002015	Dysphagia	3117	HLA-DQA1	ORPHA:930
HP:0002015	Dysphagia	4842	NOS1	ORPHA:930
HP:0002015	Dysphagia	7298	TYMS	OMIM:620040
HP:0002015	Dysphagia	2483	FRG1	OMIM:158900
HP:0002015	Dysphagia	64207	IRF2BPL	OMIM:618088
HP:0002015	Dysphagia	146862	UNC45B	OMIM:619178
HP:0002015	Dysphagia	5119	CHMP1A	OMIM:614961
HP:0002015	Dysphagia	23522	KAT6B	OMIM:606170
HP:0002015	Dysphagia	29967	LRP12	OMIM:164310
HP:0002015	Dysphagia	9570	GOSR2	OMIM:620166
HP:0002015	Dysphagia	2332	FMR1	ORPHA:93256
HP:0002015	Dysphagia	7466	WFS1	OMIM:222300
HP:0002015	Dysphagia	26278	SACS	ORPHA:98
HP:0002015	Dysphagia	9839	ZEB2	ORPHA:261552
HP:0002015	Dysphagia	9839	ZEB2	ORPHA:261537
HP:0002015	Dysphagia	57190	SELENON	ORPHA:2020
HP:0002015	Dysphagia	4633	MYL2	ORPHA:2020
HP:0002015	Dysphagia	3679	ITGA7	ORPHA:2020
HP:0002015	Dysphagia	7169	TPM2	ORPHA:2020
HP:0002015	Dysphagia	9200	HACD1	ORPHA:2020
HP:0002015	Dysphagia	51776	MAP3K20	ORPHA:2020
HP:0002015	Dysphagia	79152	FA2H	ORPHA:329308
HP:0002015	Dysphagia	23400	ATP13A2	ORPHA:306674
HP:0002015	Dysphagia	23400	ATP13A2	OMIM:606693
HP:0002015	Dysphagia	7156	TOP3A	OMIM:618098
HP:0002015	Dysphagia	1641	DCX	ORPHA:2148
HP:0002015	Dysphagia	60	ACTB	OMIM:607371
HP:0002015	Dysphagia	60	ACTB	ORPHA:79107
HP:0002015	Dysphagia	1600	DAB1	OMIM:615945
HP:0002015	Dysphagia	55636	CHD7	OMIM:214800
HP:0002015	Dysphagia	113278	SLC52A3	OMIM:211530
HP:0002015	Dysphagia	113278	SLC52A3	OMIM:211500
HP:0002015	Dysphagia	2395	FXN	ORPHA:95
HP:0002015	Dysphagia	23533	PIK3R5	ORPHA:64753
HP:0002015	Dysphagia	23064	SETX	ORPHA:64753
HP:0002015	Dysphagia	23064	SETX	OMIM:606002
HP:0002015	Dysphagia	3211	HOXB1	OMIM:614744
HP:0002015	Dysphagia	6507	SLC1A3	ORPHA:2131
HP:0002015	Dysphagia	477	ATP1A2	ORPHA:2131
HP:0002015	Dysphagia	146057	TTBK2	ORPHA:98767
HP:0002015	Dysphagia	3748	KCNC3	ORPHA:98768
HP:0002015	Dysphagia	9289	ADGRG1	ORPHA:98889
HP:0002015	Dysphagia	5297	PI4KA	ORPHA:98889
HP:0002015	Dysphagia	5297	PI4KA	OMIM:619708
HP:0002015	Dysphagia	27286	SRPX2	ORPHA:98889
HP:0002015	Dysphagia	11128	POLR3A	OMIM:264090
HP:0002015	Dysphagia	11128	POLR3A	ORPHA:447896
HP:0002015	Dysphagia	11128	POLR3A	OMIM:607694
HP:0002015	Dysphagia	80704	SLC19A3	OMIM:607483
HP:0002015	Dysphagia	80025	PANK2	OMIM:234200
HP:0002015	Dysphagia	80025	PANK2	OMIM:607236
HP:0002015	Dysphagia	80025	PANK2	ORPHA:216873
HP:0002015	Dysphagia	80025	PANK2	ORPHA:216866
HP:0002015	Dysphagia	92667	MGME1	ORPHA:352447
HP:0002015	Dysphagia	6558	SLC12A2	OMIM:619083
HP:0002015	Dysphagia	724066	ATXN8	ORPHA:98760
HP:0002015	Dysphagia	724066	ATXN8	OMIM:608768
HP:0002015	Dysphagia	492	ATP2B3	OMIM:302500
HP:0002015	Dysphagia	3251	HPRT1	OMIM:300322
HP:0002015	Dysphagia	3208	HPCA	OMIM:224500
HP:0002015	Dysphagia	10280	SIGMAR1	ORPHA:300605
HP:0002015	Dysphagia	10558	SPTLC1	ORPHA:300605
HP:0002015	Dysphagia	255928	SYT14	ORPHA:284271
HP:0002015	Dysphagia	255928	SYT14	OMIM:614229
HP:0002015	Dysphagia	9409	PEX16	OMIM:614877
HP:0002015	Dysphagia	9440	MED17	OMIM:613668
HP:0002015	Dysphagia	2263	FGFR2	ORPHA:2363
HP:0002015	Dysphagia	2261	FGFR3	ORPHA:2363
HP:0002015	Dysphagia	2255	FGF10	ORPHA:2363
HP:0002015	Dysphagia	7443	VRK1	OMIM:607596
HP:0002015	Dysphagia	8106	PABPN1	OMIM:164300
HP:0002015	Dysphagia	8314	BAP1	ORPHA:50251
HP:0002015	Dysphagia	6310	ATXN1	ORPHA:98755
HP:0002015	Dysphagia	6310	ATXN1	OMIM:164400
HP:0002015	Dysphagia	10133	OPTN	OMIM:613435
HP:0002015	Dysphagia	50628	GEMIN4	OMIM:617913
HP:0002015	Dysphagia	91574	MTRFR	OMIM:613559
HP:0002015	Dysphagia	85021	REPS1	OMIM:617916
HP:0002015	Dysphagia	3752	KCND3	OMIM:607346
HP:0002015	Dysphagia	6509	SLC1A4	ORPHA:447997
HP:0002015	Dysphagia	6314	ATXN7	ORPHA:94147
HP:0002015	Dysphagia	6314	ATXN7	OMIM:164500
HP:0002015	Dysphagia	2776	GNAQ	ORPHA:3205
HP:0002015	Dysphagia	25793	FBXO7	ORPHA:171695
HP:0002015	Dysphagia	51067	YARS2	OMIM:613561
HP:0002015	Dysphagia	80199	FUZ	ORPHA:1136
HP:0002015	Dysphagia	7407	VARS1	OMIM:617802
HP:0002015	Dysphagia	284119	CAVIN1	OMIM:613327
HP:0002015	Dysphagia	10382	TUBB4A	OMIM:128101
HP:0002015	Dysphagia	10382	TUBB4A	ORPHA:98805
HP:0002015	Dysphagia	23534	TNPO3	OMIM:608423
HP:0002015	Dysphagia	1861	TOR1A	OMIM:128100
HP:0002015	Dysphagia	54704	PDP1	OMIM:608782
HP:0002015	Dysphagia	1288	COL4A6	ORPHA:1018
HP:0002015	Dysphagia	1287	COL4A5	ORPHA:1018
HP:0002015	Dysphagia	55906	ZC4H2	OMIM:301041
HP:0002015	Dysphagia	2982	GUCY1A1	OMIM:615750
HP:0002015	Dysphagia	9420	CYP7B1	ORPHA:100986
HP:0002015	Dysphagia	29926	GMPPA	OMIM:615510
HP:0002015	Dysphagia	23394	ADNP	OMIM:615873
HP:0002015	Dysphagia	57704	GBA2	ORPHA:352641
HP:0002015	Dysphagia	79848	CSPP1	OMIM:615636
HP:0002015	Dysphagia	6328	SCN3A	OMIM:617938
HP:0002015	Dysphagia	79587	CARS2	ORPHA:477774
HP:0002015	Dysphagia	10157	AASS	ORPHA:2203
HP:0002015	Dysphagia	2782	GNB1	OMIM:616973
HP:0002015	Dysphagia	79644	SRD5A3	OMIM:612379
HP:0002015	Dysphagia	3106	HLA-B	ORPHA:36426
HP:0002015	Dysphagia	10320	IKZF1	ORPHA:36426
HP:0002015	Dysphagia	27235	COQ2	OMIM:607426
HP:0002015	Dysphagia	25953	PNKD	OMIM:118800
HP:0002015	Dysphagia	8867	SYNJ1	OMIM:615530
HP:0002015	Dysphagia	2058	EPRS1	OMIM:617951
HP:0002015	Dysphagia	80746	TSEN2	OMIM:612389
HP:0002015	Dysphagia	23317	DNAJC13	ORPHA:411602
HP:0002015	Dysphagia	1981	EIF4G1	ORPHA:411602
HP:0002015	Dysphagia	55737	VPS35	ORPHA:411602
HP:0002015	Dysphagia	120892	LRRK2	ORPHA:411602
HP:0002015	Dysphagia	26058	GIGYF2	ORPHA:411602
HP:0002015	Dysphagia	51008	ASCC1	OMIM:616867
HP:0002015	Dysphagia	2917	GRM7	OMIM:618922
HP:0002015	Dysphagia	9325	TRIP4	OMIM:616866
HP:0002015	Dysphagia	311	ANXA11	OMIM:617839
HP:0002015	Dysphagia	128989	TANGO2	ORPHA:480864
HP:0002015	Dysphagia	5582	PRKCG	OMIM:605361
HP:0002015	Dysphagia	9217	VAPB	OMIM:608627
HP:0002015	Dysphagia	3418	IDH2	ORPHA:163634
HP:0002015	Dysphagia	3417	IDH1	ORPHA:163634
HP:0002015	Dysphagia	59336	PRDM13	OMIM:619909
HP:0002015	Dysphagia	538	ATP7A	ORPHA:198
HP:0002015	Dysphagia	79784	MYH14	ORPHA:397744
HP:0002015	Dysphagia	1103	CHAT	OMIM:254210
HP:0002015	Dysphagia	1103	CHAT	ORPHA:98914
HP:0002015	Dysphagia	84617	TUBB6	OMIM:617732
HP:0002015	Dysphagia	25915	NDUFAF3	ORPHA:70474
HP:0002015	Dysphagia	4714	NDUFB8	ORPHA:70474
HP:0002015	Dysphagia	4720	NDUFS2	ORPHA:70474
HP:0002015	Dysphagia	9997	SCO2	ORPHA:70474
HP:0002015	Dysphagia	6834	SURF1	ORPHA:70474
HP:0002015	Dysphagia	23556	PIGN	ORPHA:280633
HP:0002015	Dysphagia	2670	GFAP	ORPHA:363722
HP:0002015	Dysphagia	2670	GFAP	ORPHA:363717
HP:0002015	Dysphagia	122553	TRAPPC6B	OMIM:617862
HP:0002015	Dysphagia	28957	MRPS28	OMIM:618958
HP:0002015	Dysphagia	1305	COL13A1	ORPHA:98914
HP:0002015	Dysphagia	6576	SLC25A1	ORPHA:98914
HP:0002015	Dysphagia	375790	AGRN	ORPHA:98914
HP:0002015	Dysphagia	6572	SLC18A3	ORPHA:98914
HP:0002015	Dysphagia	6616	SNAP25	ORPHA:98914
HP:0002015	Dysphagia	8292	COLQ	ORPHA:98915
HP:0002015	Dysphagia	8292	COLQ	OMIM:603034
HP:0002015	Dysphagia	3913	LAMB2	ORPHA:98915
HP:0002015	Dysphagia	51	ACOX1	OMIM:264470
HP:0002015	Dysphagia	51	ACOX1	OMIM:618960
HP:0002015	Dysphagia	10577	NPC2	OMIM:607625
HP:0002015	Dysphagia	8913	CACNA1G	ORPHA:458803
HP:0002015	Dysphagia	8913	CACNA1G	OMIM:616795
HP:0002015	Dysphagia	6651	SON	ORPHA:500150
HP:0002015	Dysphagia	22943	DKK1	ORPHA:268882
HP:0002015	Dysphagia	8243	SMC1A	ORPHA:220386
HP:0002015	Dysphagia	7515	XRCC1	OMIM:617633
HP:0002015	Dysphagia	57731	SPTBN4	OMIM:617519
HP:0002015	Dysphagia	4359	MPZ	OMIM:607736
HP:0002015	Dysphagia	4204	MECP2	OMIM:300260
HP:0002015	Dysphagia	4747	NEFL	OMIM:607734
HP:0002015	Dysphagia	9373	PLAA	OMIM:617527
HP:0002015	Dysphagia	367	AR	OMIM:313200
HP:0002015	Dysphagia	6647	SOD1	OMIM:105400
HP:0002015	Dysphagia	5630	PRPH	OMIM:105400
HP:0002015	Dysphagia	1639	DCTN1	OMIM:105400
HP:0002015	Dysphagia	4744	NEFH	OMIM:105400
HP:0002015	Dysphagia	84665	MYPN	ORPHA:171439
HP:0002015	Dysphagia	390594	KBTBD13	ORPHA:171439
HP:0002015	Dysphagia	2581	GALC	ORPHA:206443
HP:0002015	Dysphagia	10667	FARS2	ORPHA:466722
HP:0002015	Dysphagia	343641	TGM6	OMIM:613908
HP:0002015	Dysphagia	343641	TGM6	ORPHA:276193
HP:0002015	Dysphagia	5654	HTRA1	ORPHA:199354
HP:0002015	Dysphagia	4841	NONO	ORPHA:466791
HP:0002015	Dysphagia	5917	RARS1	OMIM:616140
HP:0002015	Dysphagia	5917	RARS1	ORPHA:438114
HP:0002015	Dysphagia	5832	ALDH18A1	OMIM:616586
HP:0002015	Dysphagia	1593	CYP27A1	OMIM:213700
HP:0002015	Dysphagia	2583	B4GALNT1	ORPHA:101006
HP:0002015	Dysphagia	116150	NUS1	OMIM:617082
HP:0002015	Dysphagia	9896	FIG4	ORPHA:208441
HP:0002015	Dysphagia	22872	SEC31A	OMIM:618651
HP:0002015	Dysphagia	23503	ZFYVE26	ORPHA:100996
HP:0002015	Dysphagia	3145	HMBS	ORPHA:79276
HP:0002015	Dysphagia	116461	TSEN15	ORPHA:2524
HP:0002015	Dysphagia	79042	TSEN34	ORPHA:2524
HP:0002015	Dysphagia	51091	SEPSECS	ORPHA:2524
HP:0002015	Dysphagia	5376	PMP22	ORPHA:98916
HP:0002015	Dysphagia	55768	NGLY1	OMIM:615273
HP:0002015	Dysphagia	55768	NGLY1	ORPHA:404454
HP:0002015	Dysphagia	6872	TAF1	ORPHA:53351
HP:0002015	Dysphagia	10755	GIPC1	ORPHA:98897
HP:0002015	Dysphagia	6515	SLC2A3	ORPHA:399
HP:0002015	Dysphagia	7528	YY1	ORPHA:506358
HP:0002015	Dysphagia	5393	EXOSC9	OMIM:618065
HP:0002015	Dysphagia	112	ADCY6	OMIM:616287
HP:0002015	Dysphagia	8506	CNTNAP1	OMIM:616286
HP:0002015	Dysphagia	201163	FLCN	OMIM:610883
HP:0002015	Dysphagia	7314	UBB	ORPHA:99772
HP:0002015	Dysphagia	57822	GRHL3	ORPHA:99772
HP:0002015	Dysphagia	222663	SCUBE3	OMIM:619184
HP:0002015	Dysphagia	374879	ZNF699	OMIM:619488
HP:0002015	Dysphagia	1739	DLG1	ORPHA:199306
HP:0002015	Dysphagia	652	BMP4	ORPHA:199306
HP:0002015	Dysphagia	999	CDH1	ORPHA:199306
HP:0002015	Dysphagia	9411	ARHGAP29	ORPHA:199306
HP:0002015	Dysphagia	1748	DLX4	ORPHA:199306
HP:0002015	Dysphagia	443	ASPA	ORPHA:314911
HP:0002015	Dysphagia	10743	RAI1	ORPHA:1713
HP:0002015	Dysphagia	2902	GRIN1	ORPHA:208447
HP:0008872	Feeding difficulties in infancy	4728	NDUFS8	OMIM:618222
HP:0008872	Feeding difficulties in infancy	57128	LYRM4	OMIM:615595
HP:0008872	Feeding difficulties in infancy	5913	RAPSN	OMIM:616326
HP:0008872	Feeding difficulties in infancy	51126	NAA20	OMIM:619717
HP:0008872	Feeding difficulties in infancy	1144	CHRND	OMIM:616323
HP:0008872	Feeding difficulties in infancy	7360	UGP2	OMIM:618744
HP:0008872	Feeding difficulties in infancy	1134	CHRNA1	OMIM:608930
HP:0008872	Feeding difficulties in infancy	546	ATRX	OMIM:301040
HP:0008872	Feeding difficulties in infancy	5830	PEX5	OMIM:214110
HP:0008872	Feeding difficulties in infancy	10102	TSFM	OMIM:610505
HP:0008872	Feeding difficulties in infancy	7681	MKRN3	OMIM:176270
HP:0008872	Feeding difficulties in infancy	3653	IPW	OMIM:176270
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	OMIM:176270
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	ORPHA:398069
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	OMIM:615547
HP:0008872	Feeding difficulties in infancy	791114	PWRN1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	100033413	SNORD116-1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	8924	HERC2	OMIM:176270
HP:0008872	Feeding difficulties in infancy	145624	PWAR1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	23742	NPAP1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	338433	SNORD115-1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	7314	UBB	ORPHA:99772
HP:0008872	Feeding difficulties in infancy	57822	GRHL3	ORPHA:99772
HP:0008872	Feeding difficulties in infancy	60482	SLC5A7	OMIM:617143
HP:0008872	Feeding difficulties in infancy	60482	SLC5A7	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	64801	ARV1	OMIM:617020
HP:0008872	Feeding difficulties in infancy	4487	MSX1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	5818	NECTIN1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	1739	DLG1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	652	BMP4	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	999	CDH1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	5156	PDGFRA	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	3664	IRF6	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	9411	ARHGAP29	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	1748	DLX4	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	6576	SLC25A1	OMIM:618197
HP:0008872	Feeding difficulties in infancy	6576	SLC25A1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6492	SIM1	ORPHA:171829
HP:0008872	Feeding difficulties in infancy	51111	KMT5B	OMIM:617788
HP:0008872	Feeding difficulties in infancy	54931	TRMT10C	OMIM:616974
HP:0008872	Feeding difficulties in infancy	10157	AASS	ORPHA:2203
HP:0008872	Feeding difficulties in infancy	318	NUDT2	OMIM:619844
HP:0008872	Feeding difficulties in infancy	7337	UBE3A	ORPHA:98794
HP:0008872	Feeding difficulties in infancy	7337	UBE3A	ORPHA:98795
HP:0008872	Feeding difficulties in infancy	7337	UBE3A	ORPHA:411511
HP:0008872	Feeding difficulties in infancy	4948	OCA2	ORPHA:98794
HP:0008872	Feeding difficulties in infancy	473	RERE	ORPHA:494344
HP:0008872	Feeding difficulties in infancy	1145	CHRNE	OMIM:605809
HP:0008872	Feeding difficulties in infancy	6601	SMARCC2	OMIM:618362
HP:0008872	Feeding difficulties in infancy	535	ATP6V0A1	OMIM:619970
HP:0008872	Feeding difficulties in infancy	1272	CNTN1	OMIM:612540
HP:0008872	Feeding difficulties in infancy	8289	ARID1A	OMIM:614607
HP:0008872	Feeding difficulties in infancy	6598	SMARCB1	OMIM:614608
HP:0008872	Feeding difficulties in infancy	91647	ATPAF2	OMIM:604273
HP:0008872	Feeding difficulties in infancy	1717	DHCR7	OMIM:270400
HP:0008872	Feeding difficulties in infancy	3265	HRAS	ORPHA:3071
HP:0008872	Feeding difficulties in infancy	3265	HRAS	OMIM:218040
HP:0008872	Feeding difficulties in infancy	55065	SLC52A1	OMIM:615026
HP:0008872	Feeding difficulties in infancy	2783	GNB2	OMIM:619503
HP:0008872	Feeding difficulties in infancy	5193	PEX12	OMIM:614859
HP:0008872	Feeding difficulties in infancy	4534	MTM1	ORPHA:596
HP:0008872	Feeding difficulties in infancy	538	ATP7A	ORPHA:198
HP:0008872	Feeding difficulties in infancy	7874	USP7	ORPHA:500055
HP:0008872	Feeding difficulties in infancy	23126	POGZ	OMIM:616364
HP:0008872	Feeding difficulties in infancy	6711	SPTBN1	OMIM:619475
HP:0008872	Feeding difficulties in infancy	1103	CHAT	OMIM:254210
HP:0008872	Feeding difficulties in infancy	1103	CHAT	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	9453	GGPS1	OMIM:619518
HP:0008872	Feeding difficulties in infancy	5828	PEX2	OMIM:614866
HP:0008872	Feeding difficulties in infancy	8021	NUP214	OMIM:618426
HP:0008872	Feeding difficulties in infancy	3032	HADHB	ORPHA:746
HP:0008872	Feeding difficulties in infancy	3030	HADHA	ORPHA:746
HP:0008872	Feeding difficulties in infancy	526	ATP6V1B2	ORPHA:79500
HP:0008872	Feeding difficulties in infancy	57465	TBC1D24	ORPHA:79500
HP:0008872	Feeding difficulties in infancy	25915	NDUFAF3	ORPHA:70474
HP:0008872	Feeding difficulties in infancy	4714	NDUFB8	ORPHA:70474
HP:0008872	Feeding difficulties in infancy	4720	NDUFS2	ORPHA:70474
HP:0008872	Feeding difficulties in infancy	9997	SCO2	ORPHA:70474
HP:0008872	Feeding difficulties in infancy	6834	SURF1	ORPHA:70474
HP:0008872	Feeding difficulties in infancy	374879	ZNF699	OMIM:619488
HP:0008872	Feeding difficulties in infancy	7385	UQCRC2	OMIM:615160
HP:0008872	Feeding difficulties in infancy	1806	DPYD	ORPHA:1675
HP:0008872	Feeding difficulties in infancy	4649	MYO9A	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	1305	COL13A1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6843	VAMP1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	375790	AGRN	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	127833	SYT2	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6572	SLC18A3	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6616	SNAP25	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	8292	COLQ	ORPHA:98915
HP:0008872	Feeding difficulties in infancy	3913	LAMB2	ORPHA:98915
HP:0008872	Feeding difficulties in infancy	57038	RARS2	OMIM:611523
HP:0008872	Feeding difficulties in infancy	7443	VRK1	OMIM:607596
HP:0008872	Feeding difficulties in infancy	60386	SLC25A19	OMIM:607196
HP:0008872	Feeding difficulties in infancy	4841	NONO	ORPHA:466791
HP:0008872	Feeding difficulties in infancy	10084	PQBP1	OMIM:309500
HP:0008872	Feeding difficulties in infancy	5805	PTS	OMIM:261640
HP:0008872	Feeding difficulties in infancy	3798	KIF5A	OMIM:617235
HP:0008872	Feeding difficulties in infancy	7317	UBA1	ORPHA:1145
HP:0008872	Feeding difficulties in infancy	5824	PEX19	OMIM:614886
HP:0008872	Feeding difficulties in infancy	79651	RHBDF2	ORPHA:2198
HP:0008872	Feeding difficulties in infancy	129285	PPP1R21	OMIM:619383
HP:0008872	Feeding difficulties in infancy	2742	GLRA2	OMIM:301076
HP:0008872	Feeding difficulties in infancy	1892	ECHS1	OMIM:616277
HP:0008872	Feeding difficulties in infancy	667	DST	OMIM:614653
HP:0008872	Feeding difficulties in infancy	867	CBL	OMIM:613563
HP:0008872	Feeding difficulties in infancy	1140	CHRNB1	OMIM:616313
HP:0008872	Feeding difficulties in infancy	27429	HTRA2	OMIM:617248
HP:0008872	Feeding difficulties in infancy	9373	PLAA	OMIM:617527
HP:0008872	Feeding difficulties in infancy	6664	SOX11	OMIM:615866
HP:0008872	Feeding difficulties in infancy	79751	SLC25A22	ORPHA:1935
HP:0008872	Feeding difficulties in infancy	150094	SIK1	ORPHA:1935
HP:0008872	Feeding difficulties in infancy	6888	TALDO1	OMIM:606003
HP:0008872	Feeding difficulties in infancy	9131	AIFM1	ORPHA:238329
HP:0008872	Feeding difficulties in infancy	4524	MTHFR	ORPHA:395
HP:0008872	Feeding difficulties in infancy	6535	SLC6A8	OMIM:300352
HP:0008872	Feeding difficulties in infancy	4621	MYH3	ORPHA:2053
HP:0008872	Feeding difficulties in infancy	4621	MYH3	OMIM:193700
HP:0008872	Feeding difficulties in infancy	199857	ALG14	OMIM:619036
HP:0008872	Feeding difficulties in infancy	51399	TRAPPC4	OMIM:618741
HP:0008872	Feeding difficulties in infancy	8518	ELP1	ORPHA:1764
HP:0008872	Feeding difficulties in infancy	8518	ELP1	OMIM:223900
HP:0008872	Feeding difficulties in infancy	1024	CDK8	OMIM:618748
HP:0008872	Feeding difficulties in infancy	145173	B3GLCT	ORPHA:709
HP:0008872	Feeding difficulties in infancy	145173	B3GLCT	OMIM:261540
HP:0008872	Feeding difficulties in infancy	22800	RRAS2	OMIM:618624
HP:0008872	Feeding difficulties in infancy	22800	RRAS2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	1161	ERCC8	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2067	ERCC1	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2067	ERCC1	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	2074	ERCC6	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2074	ERCC6	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	3481	IGF2	ORPHA:231140
HP:0008872	Feeding difficulties in infancy	3481	IGF2	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	283120	H19	ORPHA:231140
HP:0008872	Feeding difficulties in infancy	7849	PAX8	OMIM:218700
HP:0008872	Feeding difficulties in infancy	10743	RAI1	ORPHA:477817
HP:0008872	Feeding difficulties in infancy	10743	RAI1	ORPHA:819
HP:0008872	Feeding difficulties in infancy	7259	TSPYL1	OMIM:608800
HP:0008872	Feeding difficulties in infancy	116931	MED12L	OMIM:618872
HP:0008872	Feeding difficulties in infancy	6341	SCO1	OMIM:619048
HP:0008872	Feeding difficulties in infancy	6729	SRP54	OMIM:618752
HP:0008872	Feeding difficulties in infancy	89910	UBE3B	OMIM:244450
HP:0008872	Feeding difficulties in infancy	1352	COX10	OMIM:619046
HP:0008872	Feeding difficulties in infancy	3141	HLCS	OMIM:253270
HP:0008872	Feeding difficulties in infancy	10686	CLDN16	OMIM:248250
HP:0008872	Feeding difficulties in infancy	2314	FLII	ORPHA:819
HP:0008872	Feeding difficulties in infancy	23096	IQSEC2	ORPHA:819
HP:0008872	Feeding difficulties in infancy	10522	DEAF1	ORPHA:819
HP:0008872	Feeding difficulties in infancy	25782	RAB3GAP2	OMIM:212720
HP:0008872	Feeding difficulties in infancy	25782	RAB3GAP2	ORPHA:1387
HP:0008872	Feeding difficulties in infancy	55636	CHD7	ORPHA:138
HP:0008872	Feeding difficulties in infancy	9723	SEMA3E	ORPHA:138
HP:0008872	Feeding difficulties in infancy	9382	COG1	OMIM:611209
HP:0008872	Feeding difficulties in infancy	63908	NAPB	OMIM:620033
HP:0008872	Feeding difficulties in infancy	7253	TSHR	ORPHA:90673
HP:0008872	Feeding difficulties in infancy	7252	TSHB	ORPHA:90674
HP:0008872	Feeding difficulties in infancy	2263	FGFR2	ORPHA:87
HP:0008872	Feeding difficulties in infancy	2263	FGFR2	OMIM:123790
HP:0008872	Feeding difficulties in infancy	56992	KIF15	ORPHA:261323
HP:0008872	Feeding difficulties in infancy	170302	ARX	OMIM:300215
HP:0008872	Feeding difficulties in infancy	57492	ARID1B	OMIM:135900
HP:0008872	Feeding difficulties in infancy	146862	UNC45B	OMIM:619178
HP:0008872	Feeding difficulties in infancy	274	BIN1	OMIM:255200
HP:0008872	Feeding difficulties in infancy	6261	RYR1	OMIM:255320
HP:0008872	Feeding difficulties in infancy	54880	BCOR	ORPHA:2712
HP:0008872	Feeding difficulties in infancy	10381	TUBB3	ORPHA:300570
HP:0008872	Feeding difficulties in infancy	686	BTD	OMIM:253260
HP:0008872	Feeding difficulties in infancy	55681	SCYL2	OMIM:618766
HP:0008872	Feeding difficulties in infancy	170825	GSX2	OMIM:618646
HP:0008872	Feeding difficulties in infancy	7841	MOGS	OMIM:606056
HP:0008872	Feeding difficulties in infancy	157680	VPS13B	OMIM:216550
HP:0008872	Feeding difficulties in infancy	157680	VPS13B	ORPHA:193
HP:0008872	Feeding difficulties in infancy	1716	DGUOK	OMIM:251880
HP:0008872	Feeding difficulties in infancy	5095	PCCA	OMIM:606054
HP:0008872	Feeding difficulties in infancy	5096	PCCB	OMIM:606054
HP:0008872	Feeding difficulties in infancy	171023	ASXL1	ORPHA:97297
HP:0008872	Feeding difficulties in infancy	26053	AUTS2	ORPHA:352490
HP:0008872	Feeding difficulties in infancy	7386	UQCRFS1	OMIM:618775
HP:0008872	Feeding difficulties in infancy	88	ACTN2	OMIM:618654
HP:0008872	Feeding difficulties in infancy	833	CARS1	OMIM:618891
HP:0008872	Feeding difficulties in infancy	57178	ZMIZ1	OMIM:618659
HP:0008872	Feeding difficulties in infancy	5813	PURA	ORPHA:438216
HP:0008872	Feeding difficulties in infancy	5813	PURA	ORPHA:314655
HP:0008872	Feeding difficulties in infancy	1641	DCX	ORPHA:2148
HP:0008872	Feeding difficulties in infancy	284184	NDUFAF8	OMIM:618776
HP:0008872	Feeding difficulties in infancy	51021	MRPS16	OMIM:610498
HP:0008872	Feeding difficulties in infancy	56922	MCCC1	OMIM:210200
HP:0008872	Feeding difficulties in infancy	113235	SLC46A1	OMIM:229050
HP:0008872	Feeding difficulties in infancy	6602	SMARCD1	OMIM:618779
HP:0008872	Feeding difficulties in infancy	25942	SIN3A	OMIM:613406
HP:0008872	Feeding difficulties in infancy	2200	FBN1	OMIM:616914
HP:0008872	Feeding difficulties in infancy	5373	PMM2	OMIM:212065
HP:0008872	Feeding difficulties in infancy	79600	TCTN1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	79848	CSPP1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	51684	SUFU	ORPHA:475
HP:0008872	Feeding difficulties in infancy	54806	AHI1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	153241	CEP120	ORPHA:475
HP:0008872	Feeding difficulties in infancy	153241	CEP120	ORPHA:474
HP:0008872	Feeding difficulties in infancy	65250	CPLANE1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	65250	CPLANE1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	91147	TMEM67	ORPHA:475
HP:0008872	Feeding difficulties in infancy	91147	TMEM67	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	200894	ARL13B	ORPHA:475
HP:0008872	Feeding difficulties in infancy	9731	CEP104	ORPHA:475
HP:0008872	Feeding difficulties in infancy	219844	HYLS1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	23247	KATNIP	ORPHA:475
HP:0008872	Feeding difficulties in infancy	219854	TMEM218	ORPHA:475
HP:0008872	Feeding difficulties in infancy	54903	MKS1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	95681	CEP41	ORPHA:475
HP:0008872	Feeding difficulties in infancy	9786	KIAA0586	ORPHA:475
HP:0008872	Feeding difficulties in infancy	56623	INPP5E	ORPHA:475
HP:0008872	Feeding difficulties in infancy	56623	INPP5E	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	79867	TCTN2	ORPHA:475
HP:0008872	Feeding difficulties in infancy	80776	B9D2	ORPHA:475
HP:0008872	Feeding difficulties in infancy	10464	PIBF1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	80210	ARMC9	ORPHA:475
HP:0008872	Feeding difficulties in infancy	23116	TOGARAM1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	25776	CBY1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	27077	B9D1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	403	ARL3	ORPHA:475
HP:0008872	Feeding difficulties in infancy	65062	TMEM237	ORPHA:475
HP:0008872	Feeding difficulties in infancy	55112	DYNC2I1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	26160	IFT172	ORPHA:474
HP:0008872	Feeding difficulties in infancy	57560	IFT80	ORPHA:474
HP:0008872	Feeding difficulties in infancy	51626	DYNC2LI1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	79659	DYNC2H1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	9742	IFT140	ORPHA:474
HP:0008872	Feeding difficulties in infancy	57728	WDR19	ORPHA:474
HP:0008872	Feeding difficulties in infancy	89891	DYNC2I2	ORPHA:474
HP:0008872	Feeding difficulties in infancy	79809	TTC21B	ORPHA:474
HP:0008872	Feeding difficulties in infancy	4953	ODC1	OMIM:619075
HP:0008872	Feeding difficulties in infancy	4204	MECP2	OMIM:300673
HP:0008872	Feeding difficulties in infancy	1629	DBT	OMIM:248600
HP:0008872	Feeding difficulties in infancy	593	BCKDHA	OMIM:248600
HP:0008872	Feeding difficulties in infancy	594	BCKDHB	OMIM:248600
HP:0008872	Feeding difficulties in infancy	5626	PROP1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	89884	LHX4	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	8022	LHX3	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	5449	POU1F1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	8820	HESX1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	5190	PEX6	OMIM:614862
HP:0008872	Feeding difficulties in infancy	5190	PEX6	ORPHA:912
HP:0008872	Feeding difficulties in infancy	9091	PIGQ	OMIM:618548
HP:0008872	Feeding difficulties in infancy	6049	RNF6	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	7048	TGFBR2	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	51741	WWOX	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	9940	DLEC1	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	5590	PRKCZ	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	2563	GABRD	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	23013	SPEN	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	8510	MMP23B	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	7798	LUZP1	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	6497	SKI	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	6497	SKI	OMIM:182212
HP:0008872	Feeding difficulties in infancy	10630	PDPN	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	3339	HSPG2	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	3339	HSPG2	ORPHA:800
HP:0008872	Feeding difficulties in infancy	10277	UBE4B	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	8514	KCNAB2	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	63976	PRDM16	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	54897	CASZ1	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	493856	CISD2	ORPHA:3463
HP:0008872	Feeding difficulties in infancy	7466	WFS1	ORPHA:3463
HP:0008872	Feeding difficulties in infancy	4784	NFIX	ORPHA:420179
HP:0008872	Feeding difficulties in infancy	80025	PANK2	OMIM:234200
HP:0008872	Feeding difficulties in infancy	6609	SMPD1	OMIM:257200
HP:0008872	Feeding difficulties in infancy	166785	MMAA	OMIM:251100
HP:0008872	Feeding difficulties in infancy	10907	TXNL4A	OMIM:608572
HP:0008872	Feeding difficulties in infancy	10436	EMG1	ORPHA:1270
HP:0008872	Feeding difficulties in infancy	2548	GAA	ORPHA:308552
HP:0008872	Feeding difficulties in infancy	554	AVPR2	OMIM:304800
HP:0008872	Feeding difficulties in infancy	5192	PEX10	OMIM:614870
HP:0008872	Feeding difficulties in infancy	5192	PEX10	ORPHA:912
HP:0008872	Feeding difficulties in infancy	4849	CNOT3	OMIM:618672
HP:0008872	Feeding difficulties in infancy	1028	CDKN1C	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	5324	PLAG1	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	5324	PLAG1	OMIM:618907
HP:0008872	Feeding difficulties in infancy	8091	HMGA2	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	8091	HMGA2	OMIM:618908
HP:0008872	Feeding difficulties in infancy	11231	SEC63	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	5589	PRKCSH	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	4041	LRP5	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	200424	TET3	OMIM:618798
HP:0008872	Feeding difficulties in infancy	25973	PARS2	OMIM:618437
HP:0008872	Feeding difficulties in infancy	9409	PEX16	OMIM:614876
HP:0008872	Feeding difficulties in infancy	9409	PEX16	ORPHA:912
HP:0008872	Feeding difficulties in infancy	51085	MLXIPL	OMIM:194050
HP:0008872	Feeding difficulties in infancy	2006	ELN	OMIM:194050
HP:0008872	Feeding difficulties in infancy	10667	FARS2	ORPHA:466722
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:98754
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177904
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177901
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177910
HP:0008872	Feeding difficulties in infancy	27086	FOXP1	OMIM:613670
HP:0008872	Feeding difficulties in infancy	3977	LIFR	ORPHA:3206
HP:0008872	Feeding difficulties in infancy	6389	SDHA	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	6390	SDHB	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	6390	SDHB	OMIM:619224
HP:0008872	Feeding difficulties in infancy	6392	SDHD	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	644096	SDHAF1	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	22930	RAB3GAP1	ORPHA:1387
HP:0008872	Feeding difficulties in infancy	84295	PHF6	ORPHA:127
HP:0008872	Feeding difficulties in infancy	701	BUB1B	OMIM:257300
HP:0008872	Feeding difficulties in infancy	64324	NSD1	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	8726	EED	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	23512	SUZ12	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	2146	EZH2	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	6567	SLC16A2	ORPHA:59
HP:0008872	Feeding difficulties in infancy	6567	SLC16A2	OMIM:300523
HP:0008872	Feeding difficulties in infancy	55023	PHIP	ORPHA:589905
HP:0008872	Feeding difficulties in infancy	54463	RETREG1	OMIM:201300
HP:0008872	Feeding difficulties in infancy	65125	WNK1	OMIM:201300
HP:0008872	Feeding difficulties in infancy	6335	SCN9A	OMIM:201300
HP:0008872	Feeding difficulties in infancy	547	KIF1A	OMIM:201300
HP:0008872	Feeding difficulties in infancy	8573	CASK	OMIM:300422
HP:0008872	Feeding difficulties in infancy	3329	HSPD1	OMIM:612233
HP:0008872	Feeding difficulties in infancy	58497	PRUNE1	ORPHA:544469
HP:0008872	Feeding difficulties in infancy	57724	EPG5	ORPHA:1493
HP:0008872	Feeding difficulties in infancy	55670	PEX26	ORPHA:912
HP:0008872	Feeding difficulties in infancy	8504	PEX3	ORPHA:912
HP:0008872	Feeding difficulties in infancy	8799	PEX11B	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5189	PEX1	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5194	PEX13	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5195	PEX14	ORPHA:912
HP:0008872	Feeding difficulties in infancy	846	CASR	OMIM:239200
HP:0008872	Feeding difficulties in infancy	84705	GTPBP3	ORPHA:444013
HP:0008872	Feeding difficulties in infancy	80816	ASXL3	ORPHA:352577
HP:0008872	Feeding difficulties in infancy	6134	RPL10	OMIM:300998
HP:0008872	Feeding difficulties in infancy	1291	COL6A1	OMIM:254090
HP:0008872	Feeding difficulties in infancy	1292	COL6A2	OMIM:254090
HP:0008872	Feeding difficulties in infancy	1293	COL6A3	OMIM:254090
HP:0008872	Feeding difficulties in infancy	51728	POLR3K	OMIM:619310
HP:0008872	Feeding difficulties in infancy	3033	HADH	OMIM:231530
HP:0008872	Feeding difficulties in infancy	3033	HADH	ORPHA:71212
HP:0008872	Feeding difficulties in infancy	359	AQP2	OMIM:125800
HP:0008872	Feeding difficulties in infancy	6885	MAP3K7	OMIM:617137
HP:0008872	Feeding difficulties in infancy	51412	ACTL6B	OMIM:618468
HP:0008872	Feeding difficulties in infancy	55593	OTUD5	OMIM:301056
HP:0008872	Feeding difficulties in infancy	58484	NLRC4	OMIM:616050
HP:0008872	Feeding difficulties in infancy	55869	HDAC8	OMIM:300882
HP:0008872	Feeding difficulties in infancy	55869	HDAC8	ORPHA:199
HP:0008872	Feeding difficulties in infancy	11277	TREX1	OMIM:225750
HP:0008872	Feeding difficulties in infancy	63895	PIEZO2	OMIM:617146
HP:0008872	Feeding difficulties in infancy	112939	NACC1	ORPHA:500545
HP:0008872	Feeding difficulties in infancy	1644	DDC	OMIM:608643
HP:0008872	Feeding difficulties in infancy	1760	DMPK	OMIM:160900
HP:0008872	Feeding difficulties in infancy	4952	OCRL	ORPHA:534
HP:0008872	Feeding difficulties in infancy	9126	SMC3	OMIM:610759
HP:0008872	Feeding difficulties in infancy	9126	SMC3	ORPHA:199
HP:0008872	Feeding difficulties in infancy	29954	POMT2	OMIM:236670
HP:0008872	Feeding difficulties in infancy	9215	LARGE1	OMIM:236670
HP:0008872	Feeding difficulties in infancy	79147	FKRP	OMIM:236670
HP:0008872	Feeding difficulties in infancy	10585	POMT1	OMIM:236670
HP:0008872	Feeding difficulties in infancy	2218	FKTN	OMIM:236670
HP:0008872	Feeding difficulties in infancy	8869	ST3GAL5	OMIM:609056
HP:0008872	Feeding difficulties in infancy	5980	REV3L	ORPHA:570
HP:0008872	Feeding difficulties in infancy	23129	PLXND1	ORPHA:570
HP:0008872	Feeding difficulties in infancy	7084	TK2	ORPHA:254875
HP:0008872	Feeding difficulties in infancy	4998	ORC1	OMIM:224690
HP:0008872	Feeding difficulties in infancy	8831	SYNGAP1	ORPHA:544254
HP:0008872	Feeding difficulties in infancy	2068	ERCC2	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	2073	ERCC5	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	405753	DUOXA2	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	6528	SLC5A5	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	7038	TG	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	7173	TPO	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	389434	IYD	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	50506	DUOX2	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	201163	FLCN	OMIM:610883
HP:0008872	Feeding difficulties in infancy	5604	MAP2K1	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	5604	MAP2K1	OMIM:163950
HP:0008872	Feeding difficulties in infancy	5605	MAP2K2	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	3845	KRAS	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	3845	KRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	1585	CYP11B2	OMIM:203400
HP:0008872	Feeding difficulties in infancy	1312	COMT	ORPHA:567
HP:0008872	Feeding difficulties in infancy	221037	JMJD1C	ORPHA:567
HP:0008872	Feeding difficulties in infancy	2812	GP1BB	ORPHA:567
HP:0008872	Feeding difficulties in infancy	6239	RREB1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	6899	TBX1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	7290	HIRA	ORPHA:567
HP:0008872	Feeding difficulties in infancy	9632	SEC24C	ORPHA:567
HP:0008872	Feeding difficulties in infancy	7353	UFD1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	421	ARVCF	ORPHA:567
HP:0008872	Feeding difficulties in infancy	128989	TANGO2	ORPHA:480864
HP:0008872	Feeding difficulties in infancy	7703	PCGF2	OMIM:618371
HP:0008872	Feeding difficulties in infancy	6045	RNF2	OMIM:619460
HP:0008872	Feeding difficulties in infancy	6329	SCN4A	ORPHA:682
HP:0008872	Feeding difficulties in infancy	55163	PNPO	OMIM:610090
HP:0008872	Feeding difficulties in infancy	22808	MRAS	OMIM:618499
HP:0008872	Feeding difficulties in infancy	22808	MRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	51300	TIMMDC1	OMIM:618251
HP:0008872	Feeding difficulties in infancy	7403	KDM6A	OMIM:300867
HP:0008872	Feeding difficulties in infancy	7403	KDM6A	OMIM:147920
HP:0008872	Feeding difficulties in infancy	84818	IL17RC	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	64581	CLEC7A	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	23765	IL17RA	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	10758	TRAF3IP2	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	112744	IL17F	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	128637	TBC1D20	OMIM:615663
HP:0008872	Feeding difficulties in infancy	23322	RPGRIP1L	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	57545	CC2D2A	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	55210	ATAD3A	OMIM:618810
HP:0008872	Feeding difficulties in infancy	25939	SAMHD1	OMIM:612952
HP:0008872	Feeding difficulties in infancy	9244	CRLF1	OMIM:272430
HP:0008872	Feeding difficulties in infancy	4548	MTR	OMIM:250940
HP:0008872	Feeding difficulties in infancy	9343	EFTUD2	OMIM:610536
HP:0008872	Feeding difficulties in infancy	2313	FLI1	ORPHA:2308
HP:0008872	Feeding difficulties in infancy	326625	MMAB	OMIM:251110
HP:0008872	Feeding difficulties in infancy	84172	POLR1B	OMIM:618939
HP:0008872	Feeding difficulties in infancy	23476	BRD4	ORPHA:199
HP:0008872	Feeding difficulties in infancy	25836	NIPBL	ORPHA:199
HP:0008872	Feeding difficulties in infancy	5885	RAD21	ORPHA:199
HP:0008872	Feeding difficulties in infancy	6197	RPS6KA3	ORPHA:192
HP:0008872	Feeding difficulties in infancy	51241	COX16	OMIM:619355
HP:0008872	Feeding difficulties in infancy	410	ARSA	ORPHA:309256
HP:0008872	Feeding difficulties in infancy	4337	MOCS1	OMIM:252150
HP:0008872	Feeding difficulties in infancy	435	ASL	OMIM:207900
HP:0008872	Feeding difficulties in infancy	7040	TGFB1	ORPHA:1328
HP:0008872	Feeding difficulties in infancy	23545	ATP6V0A2	OMIM:219200
HP:0008872	Feeding difficulties in infancy	2887	GRB10	ORPHA:96182
HP:0008872	Feeding difficulties in infancy	6452	SH3BP2	ORPHA:184
HP:0008872	Feeding difficulties in infancy	23556	PIGN	ORPHA:280633
HP:0008872	Feeding difficulties in infancy	6340	SCNN1G	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	6337	SCNN1A	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	6337	SCNN1A	OMIM:264350
HP:0008872	Feeding difficulties in infancy	6338	SCNN1B	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	90522	YIF1B	OMIM:619125
HP:0008872	Feeding difficulties in infancy	51305	KCNK9	OMIM:612292
HP:0008872	Feeding difficulties in infancy	2316	FLNA	OMIM:300048
HP:0008872	Feeding difficulties in infancy	9326	ZNHIT3	OMIM:260565
HP:0008872	Feeding difficulties in infancy	90416	CCDC32	OMIM:619123
HP:0008872	Feeding difficulties in infancy	4976	OPA1	OMIM:616896
HP:0008872	Feeding difficulties in infancy	1277	COL1A1	ORPHA:1310
HP:0008872	Feeding difficulties in infancy	5500	PPP1CB	OMIM:617506
HP:0008872	Feeding difficulties in infancy	617	BCS1L	OMIM:124000
HP:0008872	Feeding difficulties in infancy	55252	ASXL2	OMIM:617190
HP:0008872	Feeding difficulties in infancy	1376	CPT2	OMIM:608836
HP:0008872	Feeding difficulties in infancy	5879	RAC1	OMIM:617751
HP:0008872	Feeding difficulties in infancy	5879	RAC1	ORPHA:500159
HP:0008872	Feeding difficulties in infancy	10479	SLC9A6	ORPHA:85278
HP:0008872	Feeding difficulties in infancy	2193	FARSA	OMIM:619013
HP:0008872	Feeding difficulties in infancy	1984	EIF5A	OMIM:619376
HP:0008872	Feeding difficulties in infancy	51780	KDM3B	OMIM:618846
HP:0008872	Feeding difficulties in infancy	4724	NDUFS4	OMIM:252010
HP:0008872	Feeding difficulties in infancy	8481	OFD1	OMIM:300804
HP:0008872	Feeding difficulties in infancy	8481	OFD1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	2806	GOT2	OMIM:618721
HP:0008872	Feeding difficulties in infancy	3295	HSD17B4	OMIM:261515
HP:0008872	Feeding difficulties in infancy	8216	LZTR1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6016	RIT1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6237	RRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5894	RAF1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	200734	SPRED2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	4893	NRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6654	SOS1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6655	SOS2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5781	PTPN11	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5781	PTPN11	OMIM:163950
HP:0008872	Feeding difficulties in infancy	5922	RASA2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	4848	CNOT2	OMIM:618608
HP:0008872	Feeding difficulties in infancy	1807	DPYS	OMIM:222748
HP:0008872	Feeding difficulties in infancy	10210	TOPORS	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	9851	KIAA0753	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	26123	TCTN3	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	5147	PDE6D	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	51259	TMEM216	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	317662	FAM149B1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	374654	KIF7	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	9897	WASHC5	ORPHA:7
HP:0008872	Feeding difficulties in infancy	28952	CCDC22	ORPHA:7
HP:0008872	Feeding difficulties in infancy	3908	LAMA2	OMIM:607855
HP:0008872	Feeding difficulties in infancy	29928	TIMM22	OMIM:618851
HP:0008872	Feeding difficulties in infancy	8803	SUCLA2	OMIM:612073
HP:0008872	Feeding difficulties in infancy	2036	EPB41L1	OMIM:614257
HP:0008872	Feeding difficulties in infancy	4281	MID1	ORPHA:2745
HP:0008872	Feeding difficulties in infancy	84148	KAT8	OMIM:618974
HP:0008872	Feeding difficulties in infancy	57194	ATP10A	ORPHA:411515
HP:0008872	Feeding difficulties in infancy	25974	MMACHC	OMIM:277400
HP:0008872	Feeding difficulties in infancy	5052	PRDX1	OMIM:277400
HP:0008872	Feeding difficulties in infancy	8085	KMT2D	OMIM:147920
HP:0008872	Feeding difficulties in infancy	84617	TUBB6	OMIM:617732
HP:0008872	Feeding difficulties in infancy	7156	TOP3A	OMIM:618098
HP:0008872	Feeding difficulties in infancy	8626	TP63	OMIM:106260
HP:0008872	Feeding difficulties in infancy	80267	EDEM3	OMIM:619493
HP:0008872	Feeding difficulties in infancy	84340	GFM2	ORPHA:565624
HP:0008872	Feeding difficulties in infancy	1351	COX8A	OMIM:619059
HP:0008872	Feeding difficulties in infancy	10664	CTCF	ORPHA:363611
HP:0008872	Feeding difficulties in infancy	284058	KANSL1	ORPHA:363958
HP:0008872	Feeding difficulties in infancy	284058	KANSL1	ORPHA:363965
HP:0008872	Feeding difficulties in infancy	1859	DYRK1A	ORPHA:268261
HP:0008872	Feeding difficulties in infancy	10846	PDE10A	ORPHA:494526
HP:0008872	Feeding difficulties in infancy	8218	CLTCL1	ORPHA:453510
HP:0008872	Feeding difficulties in infancy	51604	PIGT	ORPHA:369837
HP:0008872	Feeding difficulties in infancy	1387	CREBBP	ORPHA:353277
HP:0008872	Feeding difficulties in infancy	23314	SATB2	ORPHA:251028
HP:0008872	Feeding difficulties in infancy	2917	GRM7	OMIM:618922
HP:0008872	Feeding difficulties in infancy	259232	NALCN	ORPHA:371364
HP:0008872	Feeding difficulties in infancy	285175	UNC80	ORPHA:371364
HP:0008872	Feeding difficulties in infancy	2581	GALC	ORPHA:206436
HP:0008872	Feeding difficulties in infancy	5660	PSAP	ORPHA:206436
HP:0008872	Feeding difficulties in infancy	3190	HNRNPK	ORPHA:352665
HP:0008872	Feeding difficulties in infancy	3190	HNRNPK	ORPHA:453504
HP:0008872	Feeding difficulties in infancy	22827	PUF60	ORPHA:508488
HP:0008872	Feeding difficulties in infancy	57190	SELENON	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	58	ACTA1	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	4633	MYL2	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	3679	ITGA7	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	7169	TPM2	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	9200	HACD1	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	7170	TPM3	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	51776	MAP3K20	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	4556	MT-TE	ORPHA:254864
HP:0008872	Feeding difficulties in infancy	55687	TRMU	ORPHA:254864
HP:0008872	Feeding difficulties in infancy	84706	GPT2	ORPHA:477673
HP:0008872	Feeding difficulties in infancy	10342	TFG	ORPHA:90117
HP:0008872	Feeding difficulties in infancy	2033	EP300	ORPHA:353284
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:177907
HP:0008872	Feeding difficulties in infancy	3417	IDH1	ORPHA:99646
HP:0008872	Feeding difficulties in infancy	7528	YY1	ORPHA:506358
HP:0008872	Feeding difficulties in infancy	10059	DNM1L	ORPHA:330050
HP:0008872	Feeding difficulties in infancy	23394	ADNP	ORPHA:404448
HP:0008872	Feeding difficulties in infancy	91574	MTRFR	ORPHA:254930
HP:0008872	Feeding difficulties in infancy	10466	COG5	ORPHA:263487
HP:0008872	Feeding difficulties in infancy	26005	C2CD3	ORPHA:434179
HP:0008872	Feeding difficulties in infancy	1861	TOR1A	OMIM:618947
HP:0008872	Feeding difficulties in infancy	1280	COL2A1	ORPHA:93316
HP:0008872	Feeding difficulties in infancy	673	BRAF	OMIM:115150
HP:0008872	Feeding difficulties in infancy	4897	NRCAM	OMIM:619833
HP:0008872	Feeding difficulties in infancy	6323	SCN1A	OMIM:619317
HP:0008872	Feeding difficulties in infancy	6328	SCN3A	OMIM:617938
HP:0008872	Feeding difficulties in infancy	23345	SYNE1	ORPHA:319332
HP:0008872	Feeding difficulties in infancy	8405	SPOP	OMIM:618828
HP:0008872	Feeding difficulties in infancy	10128	LRPPRC	ORPHA:70472
HP:0008872	Feeding difficulties in infancy	7343	UBTF	ORPHA:500180
HP:0008872	Feeding difficulties in infancy	128869	PIGU	OMIM:618590
HP:0008872	Feeding difficulties in infancy	27125	AFF4	ORPHA:444077
HP:0008872	Feeding difficulties in infancy	4247	MGAT2	ORPHA:79329
HP:0008872	Feeding difficulties in infancy	283446	MYO1H	OMIM:619482
HP:0008872	Feeding difficulties in infancy	5631	PRPS1	ORPHA:423479
HP:0008872	Feeding difficulties in infancy	2521	FUS	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	80208	SPG11	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	10280	SIGMAR1	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	10558	SPTLC1	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	57679	ALS2	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	80232	WDR26	ORPHA:513456
HP:0008872	Feeding difficulties in infancy	51112	TRAPPC12	ORPHA:500144
HP:0008872	Feeding difficulties in infancy	2222	FDFT1	OMIM:618156
HP:0008872	Feeding difficulties in infancy	253959	RALGAPA1	OMIM:618797
HP:0008872	Feeding difficulties in infancy	7204	TRIO	ORPHA:476126
HP:0008872	Feeding difficulties in infancy	83737	ITCH	OMIM:613385
HP:0008872	Feeding difficulties in infancy	83737	ITCH	ORPHA:228426
HP:0008872	Feeding difficulties in infancy	1294	COL7A1	ORPHA:89842
HP:0008872	Feeding difficulties in infancy	7358	UGDH	OMIM:618792
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:280195
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	283989	TSEN54	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	116461	TSEN15	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	79042	TSEN34	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	80746	TSEN2	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	51091	SEPSECS	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	80055	PGAP1	OMIM:615802
HP:0008872	Feeding difficulties in infancy	55152	DALRD3	OMIM:618910
HP:0008872	Feeding difficulties in infancy	79633	FAT4	ORPHA:314679
HP:0008872	Feeding difficulties in infancy	8642	DCHS1	ORPHA:314679
HP:0008872	Feeding difficulties in infancy	388015	RTL1	ORPHA:96334
HP:0008872	Feeding difficulties in infancy	8788	DLK1	ORPHA:96334
HP:0008872	Feeding difficulties in infancy	55384	MEG3	ORPHA:96334
HP:0008872	Feeding difficulties in infancy	9338	TCEAL1	OMIM:301094
HP:0008872	Feeding difficulties in infancy	443	ASPA	ORPHA:314911
HP:0008872	Feeding difficulties in infancy	87178	PNPT1	ORPHA:319514
HP:0008872	Feeding difficulties in infancy	79158	GNPTAB	ORPHA:576
HP:0008872	Feeding difficulties in infancy	1185	CLCN6	OMIM:619173
HP:0008872	Feeding difficulties in infancy	84992	PIGY	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	84720	PIGO	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	93210	PGAP3	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	284098	PIGW	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	27315	PGAP2	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	55650	PIGV	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	9487	PIGL	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	57107	PDSS2	ORPHA:255249
HP:0008872	Feeding difficulties in infancy	27235	COQ2	ORPHA:255249
HP:0008872	Feeding difficulties in infancy	6651	SON	ORPHA:500150
HP:0008872	Feeding difficulties in infancy	2260	FGFR1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2260	FGFR1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	10735	STAG2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	10735	STAG2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	8243	SMC1A	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	93627	TBCK	OMIM:616900
HP:0008872	Feeding difficulties in infancy	8560	DEGS1	OMIM:618404
HP:0008872	Feeding difficulties in infancy	819	CAMLG	OMIM:620201
HP:0008872	Feeding difficulties in infancy	2055	CLN8	ORPHA:1947
HP:0008872	Feeding difficulties in infancy	9361	LONP1	ORPHA:79243
HP:0008872	Feeding difficulties in infancy	5160	PDHA1	ORPHA:79243
HP:0008872	Feeding difficulties in infancy	57731	SPTBN4	OMIM:617519
HP:0008872	Feeding difficulties in infancy	8813	DPM1	ORPHA:79322
HP:0008872	Feeding difficulties in infancy	6509	SLC1A4	ORPHA:447997
HP:0008872	Feeding difficulties in infancy	79087	ALG12	ORPHA:79324
HP:0008872	Feeding difficulties in infancy	641	BLM	ORPHA:125
HP:0008872	Feeding difficulties in infancy	29968	PSAT1	ORPHA:284417
HP:0008872	Feeding difficulties in infancy	8884	SLC5A6	OMIM:618973
HP:0008872	Feeding difficulties in infancy	25930	PTPN23	OMIM:618890
HP:0008872	Feeding difficulties in infancy	131377	KLHL40	OMIM:615348
HP:0008872	Feeding difficulties in infancy	23007	PLCH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	5518	PPP2R1A	ORPHA:457284
HP:0008872	Feeding difficulties in infancy	11342	RNF13	ORPHA:544503
HP:0008872	Feeding difficulties in infancy	3852	KRT5	ORPHA:79396
HP:0008872	Feeding difficulties in infancy	3861	KRT14	ORPHA:79396
HP:0008872	Feeding difficulties in infancy	9325	TRIP4	ORPHA:486815
HP:0008872	Feeding difficulties in infancy	26040	SETBP1	ORPHA:798
HP:0008872	Feeding difficulties in infancy	2019	EN1	OMIM:619218
HP:0008872	Feeding difficulties in infancy	25828	TXN2	ORPHA:478029
HP:0008872	Feeding difficulties in infancy	126792	B3GALT6	OMIM:609465
HP:0002017	Nausea and vomiting	6584	SLC22A5	ORPHA:158
HP:0002017	Nausea and vomiting	6584	SLC22A5	OMIM:212140
HP:0002017	Nausea and vomiting	10128	LRPPRC	OMIM:220111
HP:0002017	Nausea and vomiting	6535	SLC6A8	OMIM:300352
HP:0002017	Nausea and vomiting	23394	ADNP	ORPHA:404448
HP:0002017	Nausea and vomiting	54539	NDUFB11	ORPHA:2609
HP:0002017	Nausea and vomiting	25915	NDUFAF3	ORPHA:2609
HP:0002017	Nausea and vomiting	51103	NDUFAF1	ORPHA:2609
HP:0002017	Nausea and vomiting	91942	NDUFAF2	ORPHA:2609
HP:0002017	Nausea and vomiting	51300	TIMMDC1	ORPHA:2609
HP:0002017	Nausea and vomiting	4716	NDUFB10	ORPHA:2609
HP:0002017	Nausea and vomiting	4723	NDUFV1	ORPHA:2609
HP:0002017	Nausea and vomiting	4723	NDUFV1	OMIM:618225
HP:0002017	Nausea and vomiting	55572	FOXRED1	ORPHA:2609
HP:0002017	Nausea and vomiting	284184	NDUFAF8	ORPHA:2609
HP:0002017	Nausea and vomiting	55863	TMEM126B	ORPHA:2609
HP:0002017	Nausea and vomiting	55863	TMEM126B	OMIM:618250
HP:0002017	Nausea and vomiting	4535	MT-ND1	ORPHA:2609
HP:0002017	Nausea and vomiting	4535	MT-ND1	ORPHA:550
HP:0002017	Nausea and vomiting	4537	MT-ND3	ORPHA:2609
HP:0002017	Nausea and vomiting	4729	NDUFV2	ORPHA:2609
HP:0002017	Nausea and vomiting	4694	NDUFA1	ORPHA:2609
HP:0002017	Nausea and vomiting	4720	NDUFS2	ORPHA:2609
HP:0002017	Nausea and vomiting	4720	NDUFS2	OMIM:618228
HP:0002017	Nausea and vomiting	4724	NDUFS4	ORPHA:2609
HP:0002017	Nausea and vomiting	4724	NDUFS4	OMIM:252010
HP:0002017	Nausea and vomiting	4726	NDUFS6	ORPHA:2609
HP:0002017	Nausea and vomiting	4728	NDUFS8	ORPHA:2609
HP:0002017	Nausea and vomiting	4722	NDUFS3	ORPHA:2609
HP:0002017	Nausea and vomiting	79133	NDUFAF5	ORPHA:2609
HP:0002017	Nausea and vomiting	126328	NDUFA11	ORPHA:2609
HP:0002017	Nausea and vomiting	4709	NDUFB3	ORPHA:2609
HP:0002017	Nausea and vomiting	80224	NUBPL	ORPHA:2609
HP:0002017	Nausea and vomiting	29078	NDUFAF4	ORPHA:2609
HP:0002017	Nausea and vomiting	374291	NDUFS7	ORPHA:2609
HP:0002017	Nausea and vomiting	4700	NDUFA6	ORPHA:2609
HP:0002017	Nausea and vomiting	4536	MT-ND2	ORPHA:2609
HP:0002017	Nausea and vomiting	4719	NDUFS1	ORPHA:2609
HP:0002017	Nausea and vomiting	4719	NDUFS1	OMIM:618226
HP:0002017	Nausea and vomiting	4715	NDUFB9	ORPHA:2609
HP:0002017	Nausea and vomiting	229	ALDOB	OMIM:229600
HP:0002017	Nausea and vomiting	229	ALDOB	ORPHA:469
HP:0002017	Nausea and vomiting	197322	ACSF3	OMIM:614265
HP:0002017	Nausea and vomiting	197322	ACSF3	ORPHA:289504
HP:0002017	Nausea and vomiting	5339	PLEC	ORPHA:158684
HP:0002017	Nausea and vomiting	3691	ITGB4	ORPHA:158684
HP:0002017	Nausea and vomiting	4598	MVK	OMIM:260920
HP:0002017	Nausea and vomiting	4598	MVK	OMIM:610377
HP:0002017	Nausea and vomiting	5009	OTC	OMIM:311250
HP:0002017	Nausea and vomiting	26873	OPLAH	OMIM:260005
HP:0002017	Nausea and vomiting	673	BRAF	OMIM:115150
HP:0002017	Nausea and vomiting	23417	MLYCD	OMIM:248360
HP:0002017	Nausea and vomiting	95	ACY1	ORPHA:137754
HP:0002017	Nausea and vomiting	324	APC	ORPHA:99818
HP:0002017	Nausea and vomiting	84334	COA8	ORPHA:436271
HP:0002017	Nausea and vomiting	9839	ZEB2	OMIM:235730
HP:0002017	Nausea and vomiting	5314	PKHD1	ORPHA:53035
HP:0002017	Nausea and vomiting	3909	LAMA3	ORPHA:79404
HP:0002017	Nausea and vomiting	3918	LAMC2	ORPHA:79404
HP:0002017	Nausea and vomiting	3914	LAMB3	ORPHA:79404
HP:0002017	Nausea and vomiting	4233	MET	ORPHA:33402
HP:0002017	Nausea and vomiting	1499	CTNNB1	ORPHA:33402
HP:0002017	Nausea and vomiting	4522	MTHFD1	OMIM:617780
HP:0002017	Nausea and vomiting	249	ALPL	OMIM:241500
HP:0002017	Nausea and vomiting	4210	MEFV	OMIM:249100
HP:0002017	Nausea and vomiting	80816	ASXL3	OMIM:615485
HP:0002017	Nausea and vomiting	4141	MARS1	OMIM:615486
HP:0002017	Nausea and vomiting	51506	UFC1	OMIM:618076
HP:0002017	Nausea and vomiting	1376	CPT2	OMIM:600649
HP:0002017	Nausea and vomiting	1376	CPT2	OMIM:608836
HP:0002017	Nausea and vomiting	5917	RARS1	ORPHA:438114
HP:0002017	Nausea and vomiting	4221	MEN1	ORPHA:2965
HP:0002017	Nausea and vomiting	4221	MEN1	ORPHA:652
HP:0002017	Nausea and vomiting	64072	CDH23	ORPHA:2965
HP:0002017	Nausea and vomiting	64072	CDH23	ORPHA:91347
HP:0002017	Nausea and vomiting	9049	AIP	ORPHA:2965
HP:0002017	Nausea and vomiting	4552	MTRR	ORPHA:2169
HP:0002017	Nausea and vomiting	3141	HLCS	OMIM:253270
HP:0002017	Nausea and vomiting	55904	KMT2E	OMIM:618512
HP:0002017	Nausea and vomiting	6507	SLC1A3	OMIM:612656
HP:0002017	Nausea and vomiting	6507	SLC1A3	ORPHA:2131
HP:0002017	Nausea and vomiting	5498	PPOX	OMIM:176200
HP:0002017	Nausea and vomiting	3077	HFE	OMIM:176200
HP:0002017	Nausea and vomiting	6523	SLC5A1	ORPHA:35710
HP:0002017	Nausea and vomiting	3284	HSD3B2	ORPHA:90791
HP:0002017	Nausea and vomiting	5428	POLG	ORPHA:298
HP:0002017	Nausea and vomiting	5428	POLG	OMIM:203700
HP:0002017	Nausea and vomiting	5428	POLG	OMIM:603041
HP:0002017	Nausea and vomiting	1890	TYMP	ORPHA:298
HP:0002017	Nausea and vomiting	1890	TYMP	OMIM:603041
HP:0002017	Nausea and vomiting	3980	LIG3	ORPHA:298
HP:0002017	Nausea and vomiting	50484	RRM2B	ORPHA:298
HP:0002017	Nausea and vomiting	50484	RRM2B	OMIM:612075
HP:0002017	Nausea and vomiting	8029	CUBN	ORPHA:35858
HP:0002017	Nausea and vomiting	81693	AMN	ORPHA:35858
HP:0002017	Nausea and vomiting	4072	EPCAM	ORPHA:92050
HP:0002017	Nausea and vomiting	105371045	PERCC1	ORPHA:92050
HP:0002017	Nausea and vomiting	1738	DLD	ORPHA:2394
HP:0002017	Nausea and vomiting	55687	TRMU	OMIM:613070
HP:0002017	Nausea and vomiting	3988	LIPA	OMIM:278000
HP:0002017	Nausea and vomiting	686	BTD	OMIM:253260
HP:0002017	Nausea and vomiting	7132	TNFRSF1A	OMIM:142680
HP:0002017	Nausea and vomiting	7132	TNFRSF1A	ORPHA:32960
HP:0002017	Nausea and vomiting	8942	KYNU	OMIM:236800
HP:0002017	Nausea and vomiting	3117	HLA-DQA1	OMIM:212750
HP:0002017	Nausea and vomiting	3119	HLA-DQB1	OMIM:212750
HP:0002017	Nausea and vomiting	64087	MCCC2	OMIM:210210
HP:0002017	Nausea and vomiting	5832	ALDH18A1	OMIM:601162
HP:0002017	Nausea and vomiting	5832	ALDH18A1	ORPHA:90348
HP:0002017	Nausea and vomiting	1716	DGUOK	OMIM:251880
HP:0002017	Nausea and vomiting	5095	PCCA	OMIM:606054
HP:0002017	Nausea and vomiting	5096	PCCB	OMIM:606054
HP:0002017	Nausea and vomiting	1277	COL1A1	ORPHA:287
HP:0002017	Nausea and vomiting	1289	COL5A1	ORPHA:287
HP:0002017	Nausea and vomiting	1290	COL5A2	ORPHA:287
HP:0002017	Nausea and vomiting	1717	DHCR7	OMIM:270400
HP:0002017	Nausea and vomiting	857	CAV1	OMIM:606721
HP:0002017	Nausea and vomiting	171023	ASXL1	ORPHA:97297
HP:0002017	Nausea and vomiting	50674	NEUROG3	OMIM:610370
HP:0002017	Nausea and vomiting	50674	NEUROG3	ORPHA:83620
HP:0002017	Nausea and vomiting	1371	CPOX	OMIM:618892
HP:0002017	Nausea and vomiting	1371	CPOX	OMIM:121300
HP:0002017	Nausea and vomiting	65998	ZFTA	ORPHA:251636
HP:0002017	Nausea and vomiting	5970	RELA	ORPHA:251636
HP:0002017	Nausea and vomiting	388962	BOLA3	OMIM:614299
HP:0002017	Nausea and vomiting	1591	CYP24A1	OMIM:143880
HP:0002017	Nausea and vomiting	28514	DLL1	ORPHA:93926
HP:0002017	Nausea and vomiting	28514	DLL1	ORPHA:93924
HP:0002017	Nausea and vomiting	28514	DLL1	ORPHA:93925
HP:0002017	Nausea and vomiting	28514	DLL1	ORPHA:220386
HP:0002017	Nausea and vomiting	2253	FGF8	ORPHA:93926
HP:0002017	Nausea and vomiting	2253	FGF8	ORPHA:93924
HP:0002017	Nausea and vomiting	2253	FGF8	ORPHA:93925
HP:0002017	Nausea and vomiting	2253	FGF8	ORPHA:220386
HP:0002017	Nausea and vomiting	6496	SIX3	ORPHA:93926
HP:0002017	Nausea and vomiting	6496	SIX3	ORPHA:93924
HP:0002017	Nausea and vomiting	6496	SIX3	ORPHA:93925
HP:0002017	Nausea and vomiting	6496	SIX3	ORPHA:220386
HP:0002017	Nausea and vomiting	7050	TGIF1	ORPHA:93926
HP:0002017	Nausea and vomiting	7050	TGIF1	ORPHA:93924
HP:0002017	Nausea and vomiting	7050	TGIF1	ORPHA:93925
HP:0002017	Nausea and vomiting	7050	TGIF1	ORPHA:220386
HP:0002017	Nausea and vomiting	4838	NODAL	ORPHA:93926
HP:0002017	Nausea and vomiting	4838	NODAL	ORPHA:93924
HP:0002017	Nausea and vomiting	4838	NODAL	ORPHA:93925
HP:0002017	Nausea and vomiting	4838	NODAL	ORPHA:220386
HP:0002017	Nausea and vomiting	6469	SHH	ORPHA:93926
HP:0002017	Nausea and vomiting	6469	SHH	ORPHA:93924
HP:0002017	Nausea and vomiting	6469	SHH	ORPHA:93925
HP:0002017	Nausea and vomiting	6469	SHH	ORPHA:220386
HP:0002017	Nausea and vomiting	7546	ZIC2	ORPHA:93926
HP:0002017	Nausea and vomiting	7546	ZIC2	ORPHA:93924
HP:0002017	Nausea and vomiting	7546	ZIC2	ORPHA:93925
HP:0002017	Nausea and vomiting	7546	ZIC2	ORPHA:220386
HP:0002017	Nausea and vomiting	6491	STIL	ORPHA:93926
HP:0002017	Nausea and vomiting	6491	STIL	ORPHA:93924
HP:0002017	Nausea and vomiting	6491	STIL	ORPHA:93925
HP:0002017	Nausea and vomiting	6491	STIL	ORPHA:220386
HP:0002017	Nausea and vomiting	2619	GAS1	ORPHA:93926
HP:0002017	Nausea and vomiting	2619	GAS1	ORPHA:93924
HP:0002017	Nausea and vomiting	2619	GAS1	ORPHA:93925
HP:0002017	Nausea and vomiting	2619	GAS1	ORPHA:220386
HP:0002017	Nausea and vomiting	84976	DISP1	ORPHA:93926
HP:0002017	Nausea and vomiting	84976	DISP1	ORPHA:93924
HP:0002017	Nausea and vomiting	84976	DISP1	ORPHA:93925
HP:0002017	Nausea and vomiting	84976	DISP1	ORPHA:220386
HP:0002017	Nausea and vomiting	2736	GLI2	ORPHA:93926
HP:0002017	Nausea and vomiting	2736	GLI2	ORPHA:93924
HP:0002017	Nausea and vomiting	2736	GLI2	ORPHA:93925
HP:0002017	Nausea and vomiting	2736	GLI2	ORPHA:220386
HP:0002017	Nausea and vomiting	8928	FOXH1	ORPHA:93926
HP:0002017	Nausea and vomiting	8928	FOXH1	ORPHA:93924
HP:0002017	Nausea and vomiting	8928	FOXH1	ORPHA:93925
HP:0002017	Nausea and vomiting	8928	FOXH1	ORPHA:220386
HP:0002017	Nausea and vomiting	5727	PTCH1	ORPHA:93926
HP:0002017	Nausea and vomiting	5727	PTCH1	ORPHA:93924
HP:0002017	Nausea and vomiting	5727	PTCH1	ORPHA:93925
HP:0002017	Nausea and vomiting	5727	PTCH1	ORPHA:220386
HP:0002017	Nausea and vomiting	50937	CDON	ORPHA:93926
HP:0002017	Nausea and vomiting	50937	CDON	ORPHA:93924
HP:0002017	Nausea and vomiting	50937	CDON	ORPHA:93925
HP:0002017	Nausea and vomiting	50937	CDON	ORPHA:220386
HP:0002017	Nausea and vomiting	84300	UQCC2	OMIM:615824
HP:0002017	Nausea and vomiting	56922	MCCC1	OMIM:210200
HP:0002017	Nausea and vomiting	2260	FGFR1	ORPHA:93924
HP:0002017	Nausea and vomiting	2260	FGFR1	ORPHA:220386
HP:0002017	Nausea and vomiting	23007	PLCH1	ORPHA:93925
HP:0002017	Nausea and vomiting	10735	STAG2	ORPHA:93925
HP:0002017	Nausea and vomiting	10735	STAG2	ORPHA:220386
HP:0002017	Nausea and vomiting	79053	ALG8	OMIM:608104
HP:0002017	Nausea and vomiting	79053	ALG8	ORPHA:79325
HP:0002017	Nausea and vomiting	5373	PMM2	OMIM:212065
HP:0002017	Nausea and vomiting	5373	PMM2	ORPHA:79318
HP:0002017	Nausea and vomiting	9056	SLC7A7	ORPHA:470
HP:0002017	Nausea and vomiting	9056	SLC7A7	OMIM:222700
HP:0002017	Nausea and vomiting	7809	BSND	ORPHA:89938
HP:0002017	Nausea and vomiting	1188	CLCNKB	ORPHA:89938
HP:0002017	Nausea and vomiting	1187	CLCNKA	ORPHA:89938
HP:0002017	Nausea and vomiting	1621	DBH	ORPHA:230
HP:0002017	Nausea and vomiting	51594	NBAS	OMIM:616483
HP:0002017	Nausea and vomiting	10043	TOM1	OMIM:619510
HP:0002017	Nausea and vomiting	8493	PPM1D	OMIM:617450
HP:0002017	Nausea and vomiting	1629	DBT	OMIM:248600
HP:0002017	Nausea and vomiting	593	BCKDHA	OMIM:248600
HP:0002017	Nausea and vomiting	594	BCKDHB	OMIM:248600
HP:0002017	Nausea and vomiting	54914	FOCAD	OMIM:619991
HP:0002017	Nausea and vomiting	22900	CARD8	OMIM:619079
HP:0002017	Nausea and vomiting	4519	MT-CYB	ORPHA:137675
HP:0002017	Nausea and vomiting	2592	GALT	OMIM:230400
HP:0002017	Nausea and vomiting	2592	GALT	ORPHA:79239
HP:0002017	Nausea and vomiting	8021	NUP214	OMIM:618426
HP:0002017	Nausea and vomiting	773	CACNA1A	ORPHA:2131
HP:0002017	Nausea and vomiting	773	CACNA1A	ORPHA:71518
HP:0002017	Nausea and vomiting	477	ATP1A2	ORPHA:2131
HP:0002017	Nausea and vomiting	478	ATP1A3	ORPHA:2131
HP:0002017	Nausea and vomiting	10056	FARSB	OMIM:613658
HP:0002017	Nausea and vomiting	5979	RET	OMIM:142623
HP:0002017	Nausea and vomiting	80704	SLC19A3	OMIM:607483
HP:0002017	Nausea and vomiting	1859	DYRK1A	ORPHA:464311
HP:0002017	Nausea and vomiting	6609	SMPD1	OMIM:257200
HP:0002017	Nausea and vomiting	84992	PIGY	OMIM:616809
HP:0002017	Nausea and vomiting	2203	FBP1	ORPHA:348
HP:0002017	Nausea and vomiting	166785	MMAA	OMIM:251100
HP:0002017	Nausea and vomiting	79796	ALG9	ORPHA:79328
HP:0002017	Nausea and vomiting	1909	EDNRA	OMIM:157300
HP:0002017	Nausea and vomiting	2099	ESR1	OMIM:157300
HP:0002017	Nausea and vomiting	7124	TNF	OMIM:157300
HP:0002017	Nausea and vomiting	3251	HPRT1	OMIM:300322
HP:0002017	Nausea and vomiting	554	AVPR2	OMIM:304800
HP:0002017	Nausea and vomiting	6288	SAA1	ORPHA:85445
HP:0002017	Nausea and vomiting	4306	NR3C2	OMIM:177735
HP:0002017	Nausea and vomiting	440138	ALG11	OMIM:613661
HP:0002017	Nausea and vomiting	2542	SLC37A4	OMIM:619525
HP:0002017	Nausea and vomiting	51128	SAR1B	ORPHA:71
HP:0002017	Nausea and vomiting	51128	SAR1B	OMIM:246700
HP:0002017	Nausea and vomiting	540	ATP7B	OMIM:277900
HP:0002017	Nausea and vomiting	56652	TWNK	OMIM:271245
HP:0002017	Nausea and vomiting	3815	KIT	ORPHA:79455
HP:0002017	Nausea and vomiting	38	ACAT1	ORPHA:134
HP:0002017	Nausea and vomiting	38	ACAT1	OMIM:203750
HP:0002017	Nausea and vomiting	9968	MED12	OMIM:301068
HP:0002017	Nausea and vomiting	4351	MPI	ORPHA:79319
HP:0002017	Nausea and vomiting	4351	MPI	OMIM:602579
HP:0002017	Nausea and vomiting	34	ACADM	ORPHA:42
HP:0002017	Nausea and vomiting	34	ACADM	OMIM:201450
HP:0002017	Nausea and vomiting	55739	NAXD	OMIM:618321
HP:0002017	Nausea and vomiting	11330	CTRC	ORPHA:103918
HP:0002017	Nausea and vomiting	6690	SPINK1	ORPHA:103918
HP:0002017	Nausea and vomiting	4488	MSX2	ORPHA:60015
HP:0002017	Nausea and vomiting	60529	ALX4	ORPHA:60015
HP:0002017	Nausea and vomiting	2717	GLA	OMIM:301500
HP:0002017	Nausea and vomiting	546	ATRX	OMIM:309580
HP:0002017	Nausea and vomiting	8565	YARS1	OMIM:619418
HP:0002017	Nausea and vomiting	50943	FOXP3	ORPHA:37042
HP:0002017	Nausea and vomiting	2006	ELN	ORPHA:90348
HP:0002017	Nausea and vomiting	10516	FBLN5	ORPHA:90348
HP:0002017	Nausea and vomiting	162417	NAGS	ORPHA:927
HP:0002017	Nausea and vomiting	162417	NAGS	OMIM:237310
HP:0002017	Nausea and vomiting	11181	TREH	ORPHA:103909
HP:0002017	Nausea and vomiting	10165	SLC25A13	ORPHA:247585
HP:0002017	Nausea and vomiting	445	ASS1	OMIM:215700
HP:0002017	Nausea and vomiting	710	SERPING1	OMIM:106100
HP:0002017	Nausea and vomiting	710	SERPING1	ORPHA:100050
HP:0002017	Nausea and vomiting	10195	ALG3	OMIM:601110
HP:0002017	Nausea and vomiting	56246	MRAP	ORPHA:361
HP:0002017	Nausea and vomiting	6770	STAR	ORPHA:361
HP:0002017	Nausea and vomiting	4158	MC2R	ORPHA:361
HP:0002017	Nausea and vomiting	23530	NNT	ORPHA:361
HP:0002017	Nausea and vomiting	10587	TXNRD2	ORPHA:361
HP:0002017	Nausea and vomiting	5256	PHKA2	ORPHA:264580
HP:0002017	Nausea and vomiting	5261	PHKG2	ORPHA:264580
HP:0002017	Nausea and vomiting	2581	GALC	OMIM:245200
HP:0002017	Nausea and vomiting	2581	GALC	ORPHA:206436
HP:0002017	Nausea and vomiting	8694	DGAT1	OMIM:615863
HP:0002017	Nausea and vomiting	1288	COL4A6	ORPHA:1018
HP:0002017	Nausea and vomiting	1287	COL4A5	ORPHA:1018
HP:0002017	Nausea and vomiting	2161	F12	OMIM:610618
HP:0002017	Nausea and vomiting	8518	ELP1	OMIM:223900
HP:0002017	Nausea and vomiting	4558	MT-TF	ORPHA:550
HP:0002017	Nausea and vomiting	4572	MT-TQ	ORPHA:550
HP:0002017	Nausea and vomiting	4512	MT-CO1	ORPHA:550
HP:0002017	Nausea and vomiting	4513	MT-CO2	ORPHA:550
HP:0002017	Nausea and vomiting	4514	MT-CO3	ORPHA:550
HP:0002017	Nausea and vomiting	4578	MT-TW	ORPHA:550
HP:0002017	Nausea and vomiting	4540	MT-ND5	ORPHA:550
HP:0002017	Nausea and vomiting	4541	MT-ND6	ORPHA:550
HP:0002017	Nausea and vomiting	4538	MT-ND4	ORPHA:550
HP:0002017	Nausea and vomiting	4567	MT-TL1	ORPHA:550
HP:0002017	Nausea and vomiting	4574	MT-TS1	ORPHA:550
HP:0002017	Nausea and vomiting	4575	MT-TS2	ORPHA:550
HP:0002017	Nausea and vomiting	4564	MT-TH	ORPHA:550
HP:0002017	Nausea and vomiting	359	AQP2	OMIM:125800
HP:0002017	Nausea and vomiting	6948	TCN2	OMIM:275350
HP:0002017	Nausea and vomiting	6775	STAT4	ORPHA:93552
HP:0002017	Nausea and vomiting	6696	SPP1	ORPHA:93552
HP:0002017	Nausea and vomiting	3654	IRAK1	ORPHA:93552
HP:0002017	Nausea and vomiting	6261	RYR1	ORPHA:466650
HP:0002017	Nausea and vomiting	56606	SLC2A9	ORPHA:94088
HP:0002017	Nausea and vomiting	116085	SLC22A12	ORPHA:94088
HP:0002017	Nausea and vomiting	4023	LPL	OMIM:238600
HP:0002017	Nausea and vomiting	26275	HIBCH	ORPHA:88639
HP:0002017	Nausea and vomiting	4695	NDUFA2	OMIM:618235
HP:0002017	Nausea and vomiting	6809	STX3	OMIM:619445
HP:0002017	Nausea and vomiting	10157	AASS	ORPHA:2203
HP:0002017	Nausea and vomiting	443	ASPA	ORPHA:314911
HP:0002017	Nausea and vomiting	3767	KCNJ11	ORPHA:79134
HP:0002017	Nausea and vomiting	79731	NARS2	ORPHA:79134
HP:0002017	Nausea and vomiting	6833	ABCC8	ORPHA:79134
HP:0002017	Nausea and vomiting	8869	ST3GAL5	OMIM:609056
HP:0002017	Nausea and vomiting	84340	GFM2	ORPHA:565624
HP:0002017	Nausea and vomiting	1956	EGFR	OMIM:616069
HP:0002017	Nausea and vomiting	8260	NAA10	OMIM:300855
HP:0002017	Nausea and vomiting	6326	SCN2A	OMIM:618924
HP:0002017	Nausea and vomiting	4358	MPV17	OMIM:256810
HP:0002017	Nausea and vomiting	7157	TP53	OMIM:260500
HP:0002017	Nausea and vomiting	1585	CYP11B2	OMIM:203400
HP:0002017	Nausea and vomiting	1585	CYP11B2	ORPHA:556030
HP:0002017	Nausea and vomiting	29920	PYCR2	ORPHA:481152
HP:0002017	Nausea and vomiting	5257	PHKB	ORPHA:79240
HP:0002017	Nausea and vomiting	22845	DOLK	OMIM:610768
HP:0002017	Nausea and vomiting	4594	MMUT	OMIM:251000
HP:0002017	Nausea and vomiting	3158	HMGCS2	OMIM:605911
HP:0002017	Nausea and vomiting	4547	MTTP	ORPHA:14
HP:0002017	Nausea and vomiting	3712	IVD	OMIM:243500
HP:0002017	Nausea and vomiting	1583	CYP11A1	ORPHA:289548
HP:0002017	Nausea and vomiting	1583	CYP11A1	ORPHA:168558
HP:0002017	Nausea and vomiting	6557	SLC12A1	OMIM:601678
HP:0002017	Nausea and vomiting	3172	HNF4A	ORPHA:263455
HP:0002017	Nausea and vomiting	5903	RANBP2	ORPHA:88619
HP:0002017	Nausea and vomiting	3155	HMGCL	OMIM:246450
HP:0002017	Nausea and vomiting	8802	SUCLG1	ORPHA:17
HP:0002017	Nausea and vomiting	3758	KCNJ1	OMIM:241200
HP:0002017	Nausea and vomiting	4714	NDUFB8	OMIM:618252
HP:0002017	Nausea and vomiting	2065	ERBB3	OMIM:243180
HP:0002017	Nausea and vomiting	26227	PHGDH	ORPHA:79351
HP:0002017	Nausea and vomiting	326625	MMAB	OMIM:251110
HP:0002017	Nausea and vomiting	87178	PNPT1	ORPHA:101111
HP:0002017	Nausea and vomiting	87178	PNPT1	OMIM:608703
HP:0002017	Nausea and vomiting	5167	ENPP1	ORPHA:51608
HP:0002017	Nausea and vomiting	368	ABCC6	ORPHA:51608
HP:0002017	Nausea and vomiting	51501	HIKESHI	OMIM:616881
HP:0002017	Nausea and vomiting	6711	SPTBN1	OMIM:619475
HP:0002017	Nausea and vomiting	9401	RECQL4	ORPHA:221016
HP:0002017	Nausea and vomiting	435	ASL	OMIM:207900
HP:0002017	Nausea and vomiting	5019	OXCT1	OMIM:245050
HP:0002017	Nausea and vomiting	6476	SI	ORPHA:35122
HP:0002017	Nausea and vomiting	1497	CTNS	ORPHA:411629
HP:0002017	Nausea and vomiting	1497	CTNS	ORPHA:411634
HP:0002017	Nausea and vomiting	79783	SUGCT	OMIM:231690
HP:0002017	Nausea and vomiting	2887	GRB10	ORPHA:96182
HP:0002017	Nausea and vomiting	6340	SCNN1G	ORPHA:171876
HP:0002017	Nausea and vomiting	6340	SCNN1G	OMIM:620126
HP:0002017	Nausea and vomiting	6337	SCNN1A	ORPHA:171876
HP:0002017	Nausea and vomiting	6337	SCNN1A	OMIM:264350
HP:0002017	Nausea and vomiting	6338	SCNN1B	ORPHA:171876
HP:0002017	Nausea and vomiting	6857	SYT1	ORPHA:522077
HP:0002017	Nausea and vomiting	2316	FLNA	OMIM:300048
HP:0002017	Nausea and vomiting	3075	CFH	ORPHA:244242
HP:0002017	Nausea and vomiting	3426	CFI	ORPHA:244242
HP:0002017	Nausea and vomiting	4179	CD46	ORPHA:244242
HP:0002017	Nausea and vomiting	101101692	HELLPAR	ORPHA:244242
HP:0002017	Nausea and vomiting	2670	GFAP	ORPHA:363717
HP:0002017	Nausea and vomiting	3145	HMBS	OMIM:176000
HP:0002017	Nausea and vomiting	3033	HADH	ORPHA:71212
HP:0002017	Nausea and vomiting	10551	AGR2	OMIM:620233
HP:0002017	Nausea and vomiting	1027	CDKN1B	ORPHA:652
HP:0002017	Nausea and vomiting	1026	CDKN1A	ORPHA:652
HP:0002017	Nausea and vomiting	1030	CDKN2B	ORPHA:652
HP:0002017	Nausea and vomiting	1031	CDKN2C	ORPHA:652
HP:0002017	Nausea and vomiting	6748	SSR4	ORPHA:370927
HP:0002017	Nausea and vomiting	2819	GPD1	OMIM:614480
HP:0002017	Nausea and vomiting	72	ACTG2	OMIM:155310
HP:0002017	Nausea and vomiting	51081	MRPS7	OMIM:617872
HP:0002017	Nausea and vomiting	1537	CYC1	OMIM:615453
HP:0002017	Nausea and vomiting	551	AVP	ORPHA:30925
HP:0002017	Nausea and vomiting	8243	SMC1A	ORPHA:220386
HP:0002017	Nausea and vomiting	210	ALAD	OMIM:612740
HP:0002017	Nausea and vomiting	383	ARG1	OMIM:207800
HP:0002017	Nausea and vomiting	5236	PGM1	OMIM:614921
HP:0002017	Nausea and vomiting	5660	PSAP	ORPHA:206436
HP:0002017	Nausea and vomiting	8139	GAN	OMIM:256850
HP:0002017	Nausea and vomiting	37	ACADVL	ORPHA:26793
HP:0002017	Nausea and vomiting	6850	SYK	OMIM:619381
HP:0002017	Nausea and vomiting	50617	ATP6V0A4	OMIM:602722
HP:0002017	Nausea and vomiting	1604	CD55	OMIM:226300
HP:0002017	Nausea and vomiting	3735	KARS1	OMIM:619147
HP:0002017	Nausea and vomiting	6794	STK11	ORPHA:2869
HP:0002017	Nausea and vomiting	6559	SLC12A3	OMIM:263800
HP:0002017	Nausea and vomiting	7388	UQCRH	OMIM:620137
HP:0002017	Nausea and vomiting	2693	GHSR	ORPHA:314811
HP:0002017	Nausea and vomiting	1373	CPS1	OMIM:237300
HP:0002017	Nausea and vomiting	2108	ETFA	OMIM:231680
HP:0002017	Nausea and vomiting	2109	ETFB	OMIM:231680
HP:0002017	Nausea and vomiting	2110	ETFDH	OMIM:231680
HP:0002017	Nausea and vomiting	27034	ACAD8	ORPHA:79159
HP:0002017	Nausea and vomiting	2582	GALE	OMIM:230350
HP:0002017	Nausea and vomiting	64682	ANAPC1	ORPHA:221008
HP:0002017	Nausea and vomiting	1776	DNASE1L3	ORPHA:36412
HP:0002017	Nausea and vomiting	1235	CCR6	ORPHA:220402
HP:0002017	Nausea and vomiting	1235	CCR6	ORPHA:220393
HP:0002017	Nausea and vomiting	79932	KIAA0319L	ORPHA:220402
HP:0002017	Nausea and vomiting	1490	CCN2	ORPHA:220402
HP:0002017	Nausea and vomiting	1490	CCN2	ORPHA:220393
HP:0002017	Nausea and vomiting	3663	IRF5	ORPHA:220402
HP:0002017	Nausea and vomiting	3663	IRF5	ORPHA:220393
HP:0002017	Nausea and vomiting	3123	HLA-DRB1	ORPHA:220402
HP:0002017	Nausea and vomiting	3123	HLA-DRB1	ORPHA:220393
HP:0002017	Nausea and vomiting	113235	SLC46A1	ORPHA:90045
HP:0002017	Nausea and vomiting	3655	ITGA6	ORPHA:79403
HP:0002017	Nausea and vomiting	4292	MLH1	ORPHA:144
HP:0002017	Nausea and vomiting	5395	PMS2	ORPHA:144
HP:0002017	Nausea and vomiting	27030	MLH3	ORPHA:144
HP:0002017	Nausea and vomiting	22909	FAN1	ORPHA:144
HP:0002017	Nausea and vomiting	7048	TGFBR2	ORPHA:144
HP:0002017	Nausea and vomiting	7048	TGFBR2	ORPHA:99977
HP:0002017	Nausea and vomiting	3845	KRAS	ORPHA:144
HP:0002017	Nausea and vomiting	3845	KRAS	ORPHA:1333
HP:0002017	Nausea and vomiting	5290	PIK3CA	ORPHA:144
HP:0002017	Nausea and vomiting	5290	PIK3CA	ORPHA:2495
HP:0002017	Nausea and vomiting	2956	MSH6	ORPHA:144
HP:0002017	Nausea and vomiting	5378	PMS1	ORPHA:144
HP:0002017	Nausea and vomiting	4436	MSH2	ORPHA:144
HP:0002017	Nausea and vomiting	4609	MYC	ORPHA:543
HP:0002017	Nausea and vomiting	215	ABCD1	ORPHA:388
HP:0002017	Nausea and vomiting	2668	GDNF	ORPHA:388
HP:0002017	Nausea and vomiting	6608	SMO	ORPHA:388
HP:0002017	Nausea and vomiting	6608	SMO	ORPHA:2495
HP:0002017	Nausea and vomiting	1889	ECE1	ORPHA:388
HP:0002017	Nausea and vomiting	6720	SREBF1	ORPHA:388
HP:0002017	Nausea and vomiting	1908	EDN3	ORPHA:388
HP:0002017	Nausea and vomiting	223117	SEMA3D	ORPHA:388
HP:0002017	Nausea and vomiting	538	ATP7A	ORPHA:388
HP:0002017	Nausea and vomiting	538	ATP7A	ORPHA:565
HP:0002017	Nausea and vomiting	1910	EDNRB	ORPHA:388
HP:0002017	Nausea and vomiting	10512	SEMA3C	ORPHA:388
HP:0002017	Nausea and vomiting	2064	ERBB2	ORPHA:388
HP:0002017	Nausea and vomiting	4902	NRTN	ORPHA:388
HP:0002017	Nausea and vomiting	79577	CDC73	ORPHA:143
HP:0002017	Nausea and vomiting	79577	CDC73	ORPHA:99880
HP:0002017	Nausea and vomiting	2130	EWSR1	ORPHA:83469
HP:0002017	Nausea and vomiting	7490	WT1	ORPHA:83469
HP:0002017	Nausea and vomiting	64218	SEMA4A	ORPHA:440437
HP:0002017	Nausea and vomiting	657	BMPR1A	ORPHA:440437
HP:0002017	Nausea and vomiting	6224	RPS20	ORPHA:440437
HP:0002017	Nausea and vomiting	672	BRCA1	ORPHA:168829
HP:0002017	Nausea and vomiting	672	BRCA1	ORPHA:1333
HP:0002017	Nausea and vomiting	5053	PAH	ORPHA:79254
HP:0002017	Nausea and vomiting	3106	HLA-B	ORPHA:36426
HP:0002017	Nausea and vomiting	3106	HLA-B	ORPHA:117
HP:0002017	Nausea and vomiting	10320	IKZF1	ORPHA:36426
HP:0002017	Nausea and vomiting	114548	NLRP3	ORPHA:47045
HP:0002017	Nausea and vomiting	114548	NLRP3	ORPHA:1451
HP:0002017	Nausea and vomiting	291	SLC25A4	OMIM:615418
HP:0002017	Nausea and vomiting	285282	RABL3	ORPHA:1333
HP:0002017	Nausea and vomiting	675	BRCA2	ORPHA:1333
HP:0002017	Nausea and vomiting	1029	CDKN2A	ORPHA:1333
HP:0002017	Nausea and vomiting	79728	PALB2	ORPHA:1333
HP:0002017	Nausea and vomiting	4089	SMAD4	ORPHA:1333
HP:0002017	Nausea and vomiting	23022	PALLD	ORPHA:1333
HP:0002017	Nausea and vomiting	5873	RAB27A	ORPHA:79477
HP:0002017	Nausea and vomiting	2313	FLI1	ORPHA:370348
HP:0002017	Nausea and vomiting	330	BIRC3	ORPHA:52417
HP:0002017	Nausea and vomiting	10892	MALT1	ORPHA:52417
HP:0002017	Nausea and vomiting	27086	FOXP1	ORPHA:52417
HP:0002017	Nausea and vomiting	3492	IGH	ORPHA:52417
HP:0002017	Nausea and vomiting	8915	BCL10	ORPHA:52417
HP:0002017	Nausea and vomiting	6804	STX1A	ORPHA:904
HP:0002017	Nausea and vomiting	7461	CLIP2	ORPHA:904
HP:0002017	Nausea and vomiting	84277	DNAJC30	ORPHA:904
HP:0002017	Nausea and vomiting	8468	FKBP6	ORPHA:904
HP:0002017	Nausea and vomiting	5982	RFC2	ORPHA:904
HP:0002017	Nausea and vomiting	2969	GTF2I	ORPHA:904
HP:0002017	Nausea and vomiting	3984	LIMK1	ORPHA:904
HP:0002017	Nausea and vomiting	9569	GTF2IRD1	ORPHA:904
HP:0002017	Nausea and vomiting	155382	VPS37D	ORPHA:904
HP:0002017	Nausea and vomiting	155368	METTL27	ORPHA:904
HP:0002017	Nausea and vomiting	114049	BUD23	ORPHA:904
HP:0002017	Nausea and vomiting	7458	EIF4H	ORPHA:904
HP:0002017	Nausea and vomiting	84163	GTF2IRD2	ORPHA:904
HP:0002017	Nausea and vomiting	9275	BCL7B	ORPHA:904
HP:0002017	Nausea and vomiting	26608	TBL2	ORPHA:904
HP:0002017	Nausea and vomiting	653361	NCF1	ORPHA:904
HP:0002017	Nausea and vomiting	135886	TMEM270	ORPHA:904
HP:0002017	Nausea and vomiting	51085	MLXIPL	ORPHA:904
HP:0002017	Nausea and vomiting	9031	BAZ1B	ORPHA:904
HP:0002017	Nausea and vomiting	8314	BAP1	ORPHA:2495
HP:0002017	Nausea and vomiting	4771	NF2	ORPHA:2495
HP:0002017	Nausea and vomiting	6598	SMARCB1	ORPHA:2495
HP:0002017	Nausea and vomiting	6598	SMARCB1	ORPHA:99966
HP:0002017	Nausea and vomiting	5155	PDGFB	ORPHA:2495
HP:0002017	Nausea and vomiting	84231	TRAF7	ORPHA:2495
HP:0002017	Nausea and vomiting	207	AKT1	ORPHA:2495
HP:0002017	Nausea and vomiting	7015	TERT	ORPHA:2495
HP:0002017	Nausea and vomiting	51684	SUFU	ORPHA:2495
HP:0002017	Nausea and vomiting	6605	SMARCE1	ORPHA:2495
HP:0002017	Nausea and vomiting	6049	RNF6	ORPHA:99977
HP:0002017	Nausea and vomiting	51741	WWOX	ORPHA:99977
HP:0002017	Nausea and vomiting	9940	DLEC1	ORPHA:99977
HP:0002017	Nausea and vomiting	1493	CTLA4	ORPHA:900
HP:0002017	Nausea and vomiting	26191	PTPN22	ORPHA:900
HP:0002017	Nausea and vomiting	3115	HLA-DPB1	ORPHA:900
HP:0002017	Nausea and vomiting	5657	PRTN3	ORPHA:900
HP:0002017	Nausea and vomiting	3113	HLA-DPA1	ORPHA:900
HP:0002017	Nausea and vomiting	2624	GATA2	ORPHA:3226
HP:0002017	Nausea and vomiting	57570	TRMT5	OMIM:616539
HP:0002017	Nausea and vomiting	25802	LMOD1	ORPHA:2241
HP:0002017	Nausea and vomiting	4629	MYH11	ORPHA:2241
HP:0002017	Nausea and vomiting	4638	MYLK	ORPHA:2241
HP:0002017	Nausea and vomiting	5156	PDGFRA	ORPHA:44890
HP:0002017	Nausea and vomiting	79651	RHBDF2	ORPHA:2198
HP:0002017	Nausea and vomiting	25978	CHMP2B	ORPHA:803
HP:0002017	Nausea and vomiting	3178	HNRNPA1	ORPHA:803
HP:0002017	Nausea and vomiting	8148	TAF15	ORPHA:803
HP:0002017	Nausea and vomiting	5445	PON2	ORPHA:803
HP:0002017	Nausea and vomiting	9217	VAPB	ORPHA:803
HP:0002017	Nausea and vomiting	8878	SQSTM1	ORPHA:803
HP:0002017	Nausea and vomiting	5630	PRPH	ORPHA:803
HP:0002017	Nausea and vomiting	29110	TBK1	ORPHA:803
HP:0002017	Nausea and vomiting	29110	TBK1	ORPHA:1930
HP:0002017	Nausea and vomiting	55830	GLT8D1	ORPHA:803
HP:0002017	Nausea and vomiting	755	CFAP410	ORPHA:803
HP:0002017	Nausea and vomiting	10891	PPARGC1A	ORPHA:803
HP:0002017	Nausea and vomiting	6647	SOD1	ORPHA:803
HP:0002017	Nausea and vomiting	10133	OPTN	ORPHA:803
HP:0002017	Nausea and vomiting	1639	DCTN1	ORPHA:803
HP:0002017	Nausea and vomiting	9896	FIG4	ORPHA:803
HP:0002017	Nausea and vomiting	5444	PON1	ORPHA:803
HP:0002017	Nausea and vomiting	5446	PON3	ORPHA:803
HP:0002017	Nausea and vomiting	4744	NEFH	ORPHA:803
HP:0002017	Nausea and vomiting	5216	PFN1	ORPHA:803
HP:0002017	Nausea and vomiting	9782	MATR3	ORPHA:803
HP:0002017	Nausea and vomiting	54209	TREM2	ORPHA:803
HP:0002017	Nausea and vomiting	7415	VCP	ORPHA:803
HP:0002017	Nausea and vomiting	283	ANG	ORPHA:803
HP:0002017	Nausea and vomiting	23435	TARDBP	ORPHA:803
HP:0002017	Nausea and vomiting	29978	UBQLN2	ORPHA:803
HP:0002017	Nausea and vomiting	2733	GLE1	ORPHA:803
HP:0002017	Nausea and vomiting	2521	FUS	ORPHA:803
HP:0002017	Nausea and vomiting	4750	NEK1	ORPHA:803
HP:0002017	Nausea and vomiting	2043	EPHA4	ORPHA:803
HP:0002017	Nausea and vomiting	6311	ATXN2	ORPHA:803
HP:0002017	Nausea and vomiting	1610	DAO	ORPHA:803
HP:0002017	Nausea and vomiting	2066	ERBB4	ORPHA:803
HP:0002017	Nausea and vomiting	311	ANXA11	ORPHA:803
HP:0002017	Nausea and vomiting	23025	UNC13A	ORPHA:803
HP:0002017	Nausea and vomiting	899	CCNF	ORPHA:803
HP:0002017	Nausea and vomiting	400916	CHCHD10	ORPHA:803
HP:0002017	Nausea and vomiting	10079	ATP9A	OMIM:620242
HP:0002017	Nausea and vomiting	1616	DAXX	ORPHA:100075
HP:0002017	Nausea and vomiting	5728	PTEN	ORPHA:65285
HP:0002017	Nausea and vomiting	149233	IL23R	ORPHA:117
HP:0002017	Nausea and vomiting	3586	IL10	ORPHA:117
HP:0002017	Nausea and vomiting	1230	CCR1	ORPHA:117
HP:0002017	Nausea and vomiting	355	FAS	ORPHA:117
HP:0002017	Nausea and vomiting	3592	IL12A	ORPHA:117
HP:0002017	Nausea and vomiting	101928376	IL12A-AS1	ORPHA:117
HP:0002017	Nausea and vomiting	7099	TLR4	ORPHA:117
HP:0002017	Nausea and vomiting	3459	IFNGR1	ORPHA:117
HP:0002017	Nausea and vomiting	720	C4A	ORPHA:117
HP:0002017	Nausea and vomiting	337867	UBAC2	ORPHA:117
HP:0002017	Nausea and vomiting	51752	ERAP1	ORPHA:117
HP:0002017	Nausea and vomiting	8302	KLRC4	ORPHA:117
HP:0002017	Nausea and vomiting	7187	TRAF3	ORPHA:1930
HP:0002017	Nausea and vomiting	81622	UNC93B1	ORPHA:1930
HP:0002017	Nausea and vomiting	148022	TICAM1	ORPHA:1930
HP:0002017	Nausea and vomiting	7098	TLR3	ORPHA:1930
HP:0002017	Nausea and vomiting	54790	TET2	ORPHA:98849
HP:0002017	Nausea and vomiting	6427	SRSF2	ORPHA:98849
HP:0002017	Nausea and vomiting	92667	MGME1	OMIM:615084
HP:0002017	Nausea and vomiting	92667	MGME1	ORPHA:352447
HP:0002017	Nausea and vomiting	2132	EXT2	ORPHA:466926
HP:0002017	Nausea and vomiting	3736	KCNA1	ORPHA:37612
HP:0002017	Nausea and vomiting	6331	SCN5A	ORPHA:1344
HP:0002017	Nausea and vomiting	4878	NPPA	ORPHA:1344
HP:0002017	Nausea and vomiting	2492	FSHR	OMIM:608115
HP:0002017	Nausea and vomiting	2492	FSHR	ORPHA:64739
HP:0002017	Nausea and vomiting	7428	VHL	ORPHA:276621
HP:0002017	Nausea and vomiting	7428	VHL	ORPHA:29072
HP:0002017	Nausea and vomiting	1788	DNMT3A	ORPHA:276621
HP:0002017	Nausea and vomiting	2034	EPAS1	ORPHA:276621
HP:0002017	Nausea and vomiting	6392	SDHD	ORPHA:276621
HP:0002017	Nausea and vomiting	6392	SDHD	ORPHA:29072
HP:0002017	Nausea and vomiting	6390	SDHB	ORPHA:276621
HP:0002017	Nausea and vomiting	6390	SDHB	ORPHA:29072
HP:0002017	Nausea and vomiting	776	CACNA1D	ORPHA:369929
HP:0002017	Nausea and vomiting	54832	VPS13C	ORPHA:2828
HP:0002017	Nausea and vomiting	11315	PARK7	ORPHA:2828
HP:0002017	Nausea and vomiting	7345	UCHL1	ORPHA:2828
HP:0002017	Nausea and vomiting	27429	HTRA2	ORPHA:2828
HP:0002017	Nausea and vomiting	120892	LRRK2	ORPHA:2828
HP:0002017	Nausea and vomiting	9829	DNAJC6	ORPHA:2828
HP:0002017	Nausea and vomiting	6622	SNCA	ORPHA:2828
HP:0002017	Nausea and vomiting	5420	PODXL	ORPHA:2828
HP:0002017	Nausea and vomiting	65018	PINK1	ORPHA:2828
HP:0002017	Nausea and vomiting	8867	SYNJ1	ORPHA:2828
HP:0002017	Nausea and vomiting	5071	PRKN	ORPHA:2828
HP:0002017	Nausea and vomiting	10068	IL18BP	OMIM:618549
HP:0002017	Nausea and vomiting	1743	DLST	ORPHA:29072
HP:0002017	Nausea and vomiting	4191	MDH2	ORPHA:29072
HP:0002017	Nausea and vomiting	6389	SDHA	ORPHA:29072
HP:0002017	Nausea and vomiting	23095	KIF1B	ORPHA:29072
HP:0002017	Nausea and vomiting	2271	FH	ORPHA:29072
HP:0002017	Nausea and vomiting	8402	SLC25A11	ORPHA:29072
HP:0002017	Nausea and vomiting	54949	SDHAF2	ORPHA:29072
HP:0002017	Nausea and vomiting	55654	TMEM127	ORPHA:29072
HP:0002017	Nausea and vomiting	4763	NF1	ORPHA:29072
HP:0002017	Nausea and vomiting	6391	SDHC	ORPHA:29072
HP:0002017	Nausea and vomiting	4149	MAX	ORPHA:29072
HP:0002017	Nausea and vomiting	1181	CLCN2	ORPHA:404
HP:0002017	Nausea and vomiting	1584	CYP11B1	ORPHA:403
HP:0002017	Nausea and vomiting	3762	KCNJ5	ORPHA:251274
HP:0002017	Nausea and vomiting	340533	NEXMIF	OMIM:300912
HP:0002017	Nausea and vomiting	1024	CDK8	OMIM:618748
HP:0002017	Nausea and vomiting	763	CA5A	OMIM:615751
HP:0002017	Nausea and vomiting	85358	SHANK3	OMIM:606232
HP:0002017	Nausea and vomiting	3190	HNRNPK	ORPHA:453504
HP:0002017	Nausea and vomiting	3190	HNRNPK	ORPHA:352665
HP:0002017	Nausea and vomiting	4784	NFIX	ORPHA:447980
HP:0002017	Nausea and vomiting	4577	MT-TV	ORPHA:255210
HP:0002017	Nausea and vomiting	4577	MT-TV	OMIM:540000
HP:0002017	Nausea and vomiting	4508	MT-ATP6	ORPHA:255210
HP:0002017	Nausea and vomiting	4566	MT-TK	ORPHA:255210
HP:0002017	Nausea and vomiting	4566	MT-TK	OMIM:540000
HP:0002017	Nausea and vomiting	58484	NLRC4	OMIM:616050
HP:0002017	Nausea and vomiting	728294	D2HGDH	OMIM:600721
HP:0002017	Nausea and vomiting	11235	PDCD10	ORPHA:221061
HP:0002017	Nausea and vomiting	83605	CCM2	ORPHA:221061
HP:0002017	Nausea and vomiting	889	KRIT1	ORPHA:221061
HP:0002017	Nausea and vomiting	64711	HS3ST6	OMIM:619367
HP:0002017	Nausea and vomiting	7385	UQCRC2	OMIM:615160
HP:0002017	Nausea and vomiting	9578	CDC42BPB	OMIM:619841
HP:0002017	Nausea and vomiting	10660	LBX1	OMIM:619483
HP:0002017	Nausea and vomiting	2258	FGF13	OMIM:301095
HP:0002017	Nausea and vomiting	2593	GAMT	OMIM:612736
HP:0002017	Nausea and vomiting	2710	GK	OMIM:307030
HP:0002017	Nausea and vomiting	100996717	NOTCH2NLC	OMIM:603472
HP:0002017	Nausea and vomiting	10166	SLC25A15	ORPHA:415
HP:0002017	Nausea and vomiting	10166	SLC25A15	OMIM:238970
HP:0002017	Nausea and vomiting	4511	MT-TC	OMIM:540000
HP:0002017	Nausea and vomiting	27235	COQ2	OMIM:607426
HP:0002017	Nausea and vomiting	27235	COQ2	ORPHA:255249
HP:0002017	Nausea and vomiting	55898	UNC45A	OMIM:619377
HP:0002017	Nausea and vomiting	57107	PDSS2	ORPHA:255249
HP:0002017	Nausea and vomiting	64324	NSD1	OMIM:117550
HP:0002017	Nausea and vomiting	2184	FAH	OMIM:276700
HP:0002017	Nausea and vomiting	7276	TTR	OMIM:105210
HP:0002017	Nausea and vomiting	6821	SUOX	OMIM:272300
HP:0002017	Nausea and vomiting	8884	SLC5A6	OMIM:618973
HP:0002017	Nausea and vomiting	8621	CDK13	OMIM:617360
HP:0002017	Nausea and vomiting	79827	CLMP	OMIM:615237
HP:0002017	Nausea and vomiting	9255	AIMP1	OMIM:260600
HP:0002017	Nausea and vomiting	29928	TIMM22	OMIM:618851
HP:0002017	Nausea and vomiting	55107	ANO1	OMIM:620045
HP:0002018	Nausea	229	ALDOB	OMIM:229600
HP:0002018	Nausea	229	ALDOB	ORPHA:469
HP:0002018	Nausea	171023	ASXL1	ORPHA:98849
HP:0002018	Nausea	54790	TET2	ORPHA:98849
HP:0002018	Nausea	3815	KIT	ORPHA:98849
HP:0002018	Nausea	3815	KIT	ORPHA:79455
HP:0002018	Nausea	6427	SRSF2	ORPHA:98849
HP:0002018	Nausea	324	APC	ORPHA:99818
HP:0002018	Nausea	6261	RYR1	ORPHA:466650
HP:0002018	Nausea	56606	SLC2A9	ORPHA:94088
HP:0002018	Nausea	116085	SLC22A12	ORPHA:94088
HP:0002018	Nausea	4023	LPL	OMIM:238600
HP:0002018	Nausea	5314	PKHD1	ORPHA:53035
HP:0002018	Nausea	92667	MGME1	OMIM:615084
HP:0002018	Nausea	92667	MGME1	ORPHA:352447
HP:0002018	Nausea	6507	SLC1A3	OMIM:612656
HP:0002018	Nausea	2132	EXT2	ORPHA:466926
HP:0002018	Nausea	3736	KCNA1	ORPHA:37612
HP:0002018	Nausea	710	SERPING1	ORPHA:100050
HP:0002018	Nausea	5428	POLG	ORPHA:298
HP:0002018	Nausea	1890	TYMP	ORPHA:298
HP:0002018	Nausea	3980	LIG3	ORPHA:298
HP:0002018	Nausea	50484	RRM2B	ORPHA:298
HP:0002018	Nausea	6331	SCN5A	ORPHA:1344
HP:0002018	Nausea	4878	NPPA	ORPHA:1344
HP:0002018	Nausea	7157	TP53	OMIM:260500
HP:0002018	Nausea	5257	PHKB	ORPHA:79240
HP:0002018	Nausea	2492	FSHR	OMIM:608115
HP:0002018	Nausea	2492	FSHR	ORPHA:64739
HP:0002018	Nausea	7428	VHL	ORPHA:276621
HP:0002018	Nausea	7428	VHL	ORPHA:29072
HP:0002018	Nausea	5979	RET	ORPHA:276621
HP:0002018	Nausea	5979	RET	ORPHA:29072
HP:0002018	Nausea	1788	DNMT3A	ORPHA:276621
HP:0002018	Nausea	2034	EPAS1	ORPHA:276621
HP:0002018	Nausea	6392	SDHD	ORPHA:276621
HP:0002018	Nausea	6392	SDHD	ORPHA:29072
HP:0002018	Nausea	6390	SDHB	ORPHA:276621
HP:0002018	Nausea	6390	SDHB	ORPHA:29072
HP:0002018	Nausea	9056	SLC7A7	OMIM:222700
HP:0002018	Nausea	1277	COL1A1	ORPHA:287
HP:0002018	Nausea	1289	COL5A1	ORPHA:287
HP:0002018	Nausea	1290	COL5A2	ORPHA:287
HP:0002018	Nausea	776	CACNA1D	ORPHA:369929
HP:0002018	Nausea	54832	VPS13C	ORPHA:2828
HP:0002018	Nausea	11315	PARK7	ORPHA:2828
HP:0002018	Nausea	7345	UCHL1	ORPHA:2828
HP:0002018	Nausea	27429	HTRA2	ORPHA:2828
HP:0002018	Nausea	120892	LRRK2	ORPHA:2828
HP:0002018	Nausea	9829	DNAJC6	ORPHA:2828
HP:0002018	Nausea	6622	SNCA	ORPHA:2828
HP:0002018	Nausea	5420	PODXL	ORPHA:2828
HP:0002018	Nausea	65018	PINK1	ORPHA:2828
HP:0002018	Nausea	8867	SYNJ1	ORPHA:2828
HP:0002018	Nausea	5071	PRKN	ORPHA:2828
HP:0002018	Nausea	5498	PPOX	ORPHA:79473
HP:0002018	Nausea	477	ATP1A2	OMIM:602481
HP:0002018	Nausea	10068	IL18BP	OMIM:618549
HP:0002018	Nausea	1743	DLST	ORPHA:29072
HP:0002018	Nausea	4191	MDH2	ORPHA:29072
HP:0002018	Nausea	6389	SDHA	ORPHA:29072
HP:0002018	Nausea	23095	KIF1B	ORPHA:29072
HP:0002018	Nausea	2271	FH	ORPHA:29072
HP:0002018	Nausea	8402	SLC25A11	ORPHA:29072
HP:0002018	Nausea	54949	SDHAF2	ORPHA:29072
HP:0002018	Nausea	55654	TMEM127	ORPHA:29072
HP:0002018	Nausea	4763	NF1	ORPHA:29072
HP:0002018	Nausea	6391	SDHC	ORPHA:29072
HP:0002018	Nausea	4149	MAX	ORPHA:29072
HP:0002018	Nausea	1909	EDNRA	OMIM:157300
HP:0002018	Nausea	2099	ESR1	OMIM:157300
HP:0002018	Nausea	7124	TNF	OMIM:157300
HP:0002018	Nausea	6288	SAA1	ORPHA:85445
HP:0002018	Nausea	3075	CFH	ORPHA:244242
HP:0002018	Nausea	3426	CFI	ORPHA:244242
HP:0002018	Nausea	4179	CD46	ORPHA:244242
HP:0002018	Nausea	101101692	HELLPAR	ORPHA:244242
HP:0002018	Nausea	3145	HMBS	OMIM:176000
HP:0002018	Nausea	4221	MEN1	ORPHA:652
HP:0002018	Nausea	1027	CDKN1B	ORPHA:652
HP:0002018	Nausea	1026	CDKN1A	ORPHA:652
HP:0002018	Nausea	1030	CDKN2B	ORPHA:652
HP:0002018	Nausea	1031	CDKN2C	ORPHA:652
HP:0002018	Nausea	210	ALAD	ORPHA:100924
HP:0002018	Nausea	11330	CTRC	ORPHA:103918
HP:0002018	Nausea	6690	SPINK1	ORPHA:103918
HP:0002018	Nausea	2717	GLA	OMIM:301500
HP:0002018	Nausea	162417	NAGS	ORPHA:927
HP:0002018	Nausea	1181	CLCN2	ORPHA:404
HP:0002018	Nausea	1584	CYP11B1	ORPHA:403
HP:0002018	Nausea	1585	CYP11B2	ORPHA:403
HP:0002018	Nausea	5256	PHKA2	ORPHA:264580
HP:0002018	Nausea	5261	PHKG2	ORPHA:264580
HP:0002018	Nausea	1371	CPOX	ORPHA:79273
HP:0002018	Nausea	3762	KCNJ5	ORPHA:251274
HP:0002018	Nausea	2108	ETFA	OMIM:231680
HP:0002018	Nausea	2109	ETFB	OMIM:231680
HP:0002018	Nausea	2110	ETFDH	OMIM:231680
HP:0012231	Exudative retinal detachment	3490	IGFBP7	OMIM:614224
HP:0012231	Exudative retinal detachment	2202	EFEMP1	ORPHA:75376
HP:0012231	Exudative retinal detachment	3075	CFH	ORPHA:75376
HP:0012231	Exudative retinal detachment	3426	CFI	ORPHA:75376
HP:0012231	Exudative retinal detachment	2483	FRG1	OMIM:158900
HP:0012232	Shortened QT interval	4221	MEN1	ORPHA:652
HP:0012232	Shortened QT interval	1027	CDKN1B	ORPHA:652
HP:0012232	Shortened QT interval	1026	CDKN1A	ORPHA:652
HP:0012232	Shortened QT interval	1030	CDKN2B	ORPHA:652
HP:0012232	Shortened QT interval	1031	CDKN2C	ORPHA:652
HP:0012232	Shortened QT interval	79577	CDC73	ORPHA:143
HP:0012232	Shortened QT interval	79577	CDC73	ORPHA:99880
HP:0012232	Shortened QT interval	775	CACNA1C	OMIM:611875
HP:0012232	Shortened QT interval	3759	KCNJ2	OMIM:609622
HP:0012232	Shortened QT interval	3759	KCNJ2	ORPHA:51083
HP:0012232	Shortened QT interval	783	CACNB2	OMIM:611876
HP:0012232	Shortened QT interval	781	CACNA2D1	ORPHA:51083
HP:0012232	Shortened QT interval	3784	KCNQ1	ORPHA:51083
HP:0012232	Shortened QT interval	3784	KCNQ1	OMIM:609621
HP:0012232	Shortened QT interval	3757	KCNH2	ORPHA:51083
HP:0012232	Shortened QT interval	3757	KCNH2	OMIM:609620
HP:0012232	Shortened QT interval	6508	SLC4A3	ORPHA:51083
HP:0012232	Shortened QT interval	6508	SLC4A3	OMIM:620231
HP:0012233	Intramuscular hematoma	2157	F8	ORPHA:169805
HP:0012233	Intramuscular hematoma	2157	F8	ORPHA:169802
HP:0012233	Intramuscular hematoma	5345	SERPINF2	ORPHA:79
HP:0012233	Intramuscular hematoma	2165	F13B	ORPHA:331
HP:0012233	Intramuscular hematoma	2162	F13A1	ORPHA:331
HP:0012233	Intramuscular hematoma	5054	SERPINE1	ORPHA:465
HP:0012233	Intramuscular hematoma	2159	F10	OMIM:227600
HP:0012233	Intramuscular hematoma	2159	F10	ORPHA:328
HP:0012233	Intramuscular hematoma	2155	F7	OMIM:227500
HP:0012233	Intramuscular hematoma	2147	F2	ORPHA:325
HP:0012234	Agranulocytosis	1991	ELANE	OMIM:202700
HP:0012234	Agranulocytosis	204	AK2	OMIM:267500
HP:0012234	Agranulocytosis	51311	TLR8	OMIM:301078
HP:0012236	Elevated sweat chloride	2517	FUCA1	OMIM:230000
HP:0012236	Elevated sweat chloride	6804	STX1A	ORPHA:586
HP:0012236	Elevated sweat chloride	2947	GSTM3	ORPHA:586
HP:0012236	Elevated sweat chloride	7040	TGFB1	ORPHA:586
HP:0012236	Elevated sweat chloride	7040	TGFB1	OMIM:219700
HP:0012236	Elevated sweat chloride	2729	GCLC	ORPHA:586
HP:0012236	Elevated sweat chloride	1084	CEACAM3	ORPHA:586
HP:0012236	Elevated sweat chloride	6556	SLC11A1	ORPHA:586
HP:0012236	Elevated sweat chloride	51164	DCTN4	ORPHA:586
HP:0012236	Elevated sweat chloride	3783	KCNN4	ORPHA:586
HP:0012236	Elevated sweat chloride	4282	MIF	ORPHA:586
HP:0012236	Elevated sweat chloride	1909	EDNRA	ORPHA:586
HP:0012236	Elevated sweat chloride	6550	SLC9A3	ORPHA:586
HP:0012236	Elevated sweat chloride	3162	HMOX1	ORPHA:586
HP:0012236	Elevated sweat chloride	115019	SLC26A9	ORPHA:586
HP:0012236	Elevated sweat chloride	3077	HFE	ORPHA:586
HP:0012236	Elevated sweat chloride	11254	SLC6A14	ORPHA:586
HP:0012236	Elevated sweat chloride	5265	SERPINA1	ORPHA:586
HP:0012236	Elevated sweat chloride	1080	CFTR	ORPHA:586
HP:0012236	Elevated sweat chloride	1080	CFTR	OMIM:211400
HP:0012236	Elevated sweat chloride	1080	CFTR	OMIM:219700
HP:0012236	Elevated sweat chloride	22802	CLCA4	ORPHA:586
HP:0012236	Elevated sweat chloride	4680	CEACAM6	ORPHA:586
HP:0012236	Elevated sweat chloride	5406	PNLIP	OMIM:614338
HP:0012236	Elevated sweat chloride	6338	SCNN1B	OMIM:211400
HP:0012236	Elevated sweat chloride	2212	FCGR2A	OMIM:219700
HP:0012236	Elevated sweat chloride	10551	AGR2	OMIM:620233
HP:0012236	Elevated sweat chloride	771	CA12	OMIM:143860
HP:0012236	Elevated sweat chloride	6337	SCNN1A	OMIM:613021
HP:0012237	Urocanic aciduria	131669	UROC1	OMIM:276880
HP:0012237	Urocanic aciduria	131669	UROC1	ORPHA:210128
HP:0012238	Increased circulating chylomicron concentration	344	APOC2	OMIM:207750
HP:0012238	Increased circulating chylomicron concentration	116519	APOA5	OMIM:144650
HP:0012238	Increased circulating chylomicron concentration	338328	GPIHBP1	OMIM:615947
HP:0012238	Increased circulating chylomicron concentration	4023	LPL	OMIM:238600
HP:0012239	Atransferrinemia	7018	TF	OMIM:209300
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	ORPHA:485
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	OMIM:609508
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	OMIM:619248
HP:0012230	Rhegmatogenous retinal detachment	4693	NDP	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	1499	CTNNB1	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	23554	TSPAN12	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	4041	LRP5	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	79797	ZNF408	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	8322	FZD4	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	9227	LRAT	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	55812	SPATA7	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	6121	RPE65	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	167691	LCA5	ORPHA:364055
HP:0032667	Myoclonic status epilepticus	6506	SLC1A2	OMIM:617105
HP:0032667	Myoclonic status epilepticus	23219	FBXO28	OMIM:619777
HP:0032667	Myoclonic status epilepticus	427	ASAH1	ORPHA:2590
HP:0032667	Myoclonic status epilepticus	9570	GOSR2	OMIM:614018
HP:0032667	Myoclonic status epilepticus	154881	KCTD7	OMIM:611726
HP:0032670	Tonic status epilepticus	3747	KCNC2	OMIM:619913
HP:0032671	Non-convulsive status epilepticus without coma	1759	DNM1	OMIM:616346
HP:0032671	Non-convulsive status epilepticus without coma	4221	MEN1	ORPHA:652
HP:0032671	Non-convulsive status epilepticus without coma	1027	CDKN1B	ORPHA:652
HP:0032671	Non-convulsive status epilepticus without coma	1026	CDKN1A	ORPHA:652
HP:0032671	Non-convulsive status epilepticus without coma	1030	CDKN2B	ORPHA:652
HP:0032671	Non-convulsive status epilepticus without coma	1031	CDKN2C	ORPHA:652
HP:0032671	Non-convulsive status epilepticus without coma	6335	SCN9A	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	112755	STX1B	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	2563	GABRD	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	6326	SCN2A	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	6323	SCN1A	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	6324	SCN1B	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	348980	HCN1	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	84059	ADGRV1	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	2566	GABRG2	ORPHA:36387
HP:0032671	Non-convulsive status epilepticus without coma	4953	ODC1	ORPHA:544488
HP:0032671	Non-convulsive status epilepticus without coma	2903	GRIN2A	ORPHA:98818
HP:0032671	Non-convulsive status epilepticus without coma	5428	POLG	OMIM:203700
HP:0002020	Gastroesophageal reflux	23394	ADNP	ORPHA:404448
HP:0002020	Gastroesophageal reflux	23394	ADNP	OMIM:615873
HP:0002020	Gastroesophageal reflux	26235	FBXL4	OMIM:615471
HP:0002020	Gastroesophageal reflux	8367	H4C5	OMIM:619950
HP:0002020	Gastroesophageal reflux	340533	NEXMIF	OMIM:300912
HP:0002020	Gastroesophageal reflux	340533	NEXMIF	ORPHA:85277
HP:0002020	Gastroesophageal reflux	57128	LYRM4	OMIM:615595
HP:0002020	Gastroesophageal reflux	2132	EXT2	OMIM:616682
HP:0002020	Gastroesophageal reflux	2132	EXT2	ORPHA:466926
HP:0002020	Gastroesophageal reflux	8518	ELP1	ORPHA:1764
HP:0002020	Gastroesophageal reflux	8518	ELP1	OMIM:223900
HP:0002020	Gastroesophageal reflux	8425	LTBP4	OMIM:613177
HP:0002020	Gastroesophageal reflux	1161	ERCC8	ORPHA:90324
HP:0002020	Gastroesophageal reflux	2074	ERCC6	ORPHA:90324
HP:0002020	Gastroesophageal reflux	115908	CTHRC1	OMIM:614266
HP:0002020	Gastroesophageal reflux	4481	MSR1	OMIM:614266
HP:0002020	Gastroesophageal reflux	51008	ASCC1	OMIM:614266
HP:0002020	Gastroesophageal reflux	5238	PGM3	ORPHA:443811
HP:0002020	Gastroesophageal reflux	4897	NRCAM	OMIM:619833
HP:0002020	Gastroesophageal reflux	81857	MED25	OMIM:616449
HP:0002020	Gastroesophageal reflux	79848	CSPP1	ORPHA:397715
HP:0002020	Gastroesophageal reflux	9786	KIAA0586	ORPHA:397715
HP:0002020	Gastroesophageal reflux	4312	MMP1	ORPHA:79408
HP:0002020	Gastroesophageal reflux	1294	COL7A1	ORPHA:79408
HP:0002020	Gastroesophageal reflux	1294	COL7A1	ORPHA:89842
HP:0002020	Gastroesophageal reflux	7259	TSPYL1	OMIM:608800
HP:0002020	Gastroesophageal reflux	7259	TSPYL1	ORPHA:168593
HP:0002020	Gastroesophageal reflux	116931	MED12L	OMIM:618872
HP:0002020	Gastroesophageal reflux	161582	DNAAF4	OMIM:615482
HP:0002020	Gastroesophageal reflux	3020	H3-3A	OMIM:619720
HP:0002020	Gastroesophageal reflux	3021	H3-3B	OMIM:619721
HP:0002020	Gastroesophageal reflux	65993	MRPS34	OMIM:617664
HP:0002020	Gastroesophageal reflux	80816	ASXL3	OMIM:615485
HP:0002020	Gastroesophageal reflux	283489	CHAMP1	OMIM:616579
HP:0002020	Gastroesophageal reflux	8239	USP9X	OMIM:300919
HP:0002020	Gastroesophageal reflux	166378	AFG2A	OMIM:616577
HP:0002020	Gastroesophageal reflux	84466	MEGF10	OMIM:614399
HP:0002020	Gastroesophageal reflux	84520	GON7	OMIM:619603
HP:0002020	Gastroesophageal reflux	55636	CHD7	ORPHA:138
HP:0002020	Gastroesophageal reflux	9723	SEMA3E	ORPHA:138
HP:0002020	Gastroesophageal reflux	3908	LAMA2	ORPHA:258
HP:0002020	Gastroesophageal reflux	5428	POLG	ORPHA:298
HP:0002020	Gastroesophageal reflux	5428	POLG	ORPHA:254892
HP:0002020	Gastroesophageal reflux	1890	TYMP	ORPHA:298
HP:0002020	Gastroesophageal reflux	3980	LIG3	ORPHA:298
HP:0002020	Gastroesophageal reflux	50484	RRM2B	ORPHA:298
HP:0002020	Gastroesophageal reflux	50484	RRM2B	ORPHA:254892
HP:0002020	Gastroesophageal reflux	6660	SOX5	ORPHA:313892
HP:0002020	Gastroesophageal reflux	535	ATP6V0A1	OMIM:619971
HP:0002020	Gastroesophageal reflux	3190	HNRNPK	OMIM:616580
HP:0002020	Gastroesophageal reflux	816	CAMK2B	OMIM:617799
HP:0002020	Gastroesophageal reflux	9968	MED12	ORPHA:93932
HP:0002020	Gastroesophageal reflux	7994	KAT6A	ORPHA:457193
HP:0002020	Gastroesophageal reflux	7994	KAT6A	OMIM:616268
HP:0002020	Gastroesophageal reflux	1183	CLCN4	ORPHA:485350
HP:0002020	Gastroesophageal reflux	5832	ALDH18A1	OMIM:601162
HP:0002020	Gastroesophageal reflux	5832	ALDH18A1	ORPHA:447757
HP:0002020	Gastroesophageal reflux	1277	COL1A1	ORPHA:287
HP:0002020	Gastroesophageal reflux	1289	COL5A1	ORPHA:287
HP:0002020	Gastroesophageal reflux	1290	COL5A2	ORPHA:287
HP:0002020	Gastroesophageal reflux	7020	TFAP2A	OMIM:113620
HP:0002020	Gastroesophageal reflux	10484	SEC23A	OMIM:607812
HP:0002020	Gastroesophageal reflux	22872	SEC31A	OMIM:618651
HP:0002020	Gastroesophageal reflux	4297	KMT2A	ORPHA:319182
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:220386
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93926
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93924
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93925
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:220386
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93926
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93924
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93926
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93924
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93925
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2260	FGFR1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2260	FGFR1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	23007	PLCH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	10735	STAG2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	10735	STAG2	OMIM:301043
HP:0002020	Gastroesophageal reflux	10735	STAG2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	3737	KCNA2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1759	DNM1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8120	AP3B2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	523	ATP6V1A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10991	SLC38A3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10991	SLC38A3	OMIM:619881
HP:0002020	Gastroesophageal reflux	51343	FZR1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	22906	TRAK1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2566	GABRG2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1917	EEF1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2561	GABRB2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8831	SYNGAP1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	7532	YWHAG	ORPHA:442835
HP:0002020	Gastroesophageal reflux	79876	UBA5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	79876	UBA5	OMIM:617132
HP:0002020	Gastroesophageal reflux	6328	SCN3A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2558	GABRA5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	781	CACNA2D1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2906	GRIN2D	ORPHA:442835
HP:0002020	Gastroesophageal reflux	116150	NUS1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10659	CELF2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	774	CACNA1B	ORPHA:442835
HP:0002020	Gastroesophageal reflux	774	CACNA1B	OMIM:618497
HP:0002020	Gastroesophageal reflux	1213	CLTC	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1213	CLTC	OMIM:617854
HP:0002020	Gastroesophageal reflux	51741	WWOX	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23334	SZT2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	51412	ACTL6B	ORPHA:442835
HP:0002020	Gastroesophageal reflux	348980	HCN1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	6506	SLC1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8867	SYNJ1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2258	FGF13	ORPHA:442835
HP:0002020	Gastroesophageal reflux	477	ATP1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	3745	KCNB1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	284111	SLC13A5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	25977	NECAP1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	16	AARS1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	6334	SCN8A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	22866	CNKSR2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	9568	GABBR2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2555	GABRA2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	55152	DALRD3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	773	CACNA1A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	26999	CYFIP2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	4915	NTRK2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	25973	PARS2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23097	CDK19	ORPHA:442835
HP:0002020	Gastroesophageal reflux	64801	ARV1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	64801	ARV1	OMIM:617020
HP:0002020	Gastroesophageal reflux	79947	DHDDS	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2257	FGF12	ORPHA:442835
HP:0002020	Gastroesophageal reflux	5530	PPP3CA	ORPHA:442835
HP:0002020	Gastroesophageal reflux	478	ATP1A3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	253738	EBF3	OMIM:617330
HP:0002020	Gastroesophageal reflux	2261	FGFR3	OMIM:616482
HP:0002020	Gastroesophageal reflux	9895	TECPR2	OMIM:615031
HP:0002020	Gastroesophageal reflux	8493	PPM1D	OMIM:617450
HP:0002020	Gastroesophageal reflux	23126	POGZ	OMIM:616364
HP:0002020	Gastroesophageal reflux	23126	POGZ	ORPHA:468678
HP:0002020	Gastroesophageal reflux	27125	AFF4	OMIM:616368
HP:0002020	Gastroesophageal reflux	27125	AFF4	ORPHA:444077
HP:0002020	Gastroesophageal reflux	51692	CPSF3	OMIM:619876
HP:0002020	Gastroesophageal reflux	8021	NUP214	OMIM:618426
HP:0002020	Gastroesophageal reflux	5590	PRKCZ	ORPHA:1606
HP:0002020	Gastroesophageal reflux	2563	GABRD	ORPHA:1606
HP:0002020	Gastroesophageal reflux	23013	SPEN	ORPHA:1606
HP:0002020	Gastroesophageal reflux	23013	SPEN	OMIM:619312
HP:0002020	Gastroesophageal reflux	8510	MMP23B	ORPHA:1606
HP:0002020	Gastroesophageal reflux	7798	LUZP1	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6497	SKI	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6497	SKI	ORPHA:2462
HP:0002020	Gastroesophageal reflux	6497	SKI	OMIM:182212
HP:0002020	Gastroesophageal reflux	10630	PDPN	ORPHA:1606
HP:0002020	Gastroesophageal reflux	3339	HSPG2	ORPHA:1606
HP:0002020	Gastroesophageal reflux	10277	UBE4B	ORPHA:1606
HP:0002020	Gastroesophageal reflux	8514	KCNAB2	ORPHA:1606
HP:0002020	Gastroesophageal reflux	473	RERE	ORPHA:1606
HP:0002020	Gastroesophageal reflux	473	RERE	ORPHA:494344
HP:0002020	Gastroesophageal reflux	473	RERE	OMIM:616975
HP:0002020	Gastroesophageal reflux	63976	PRDM16	ORPHA:1606
HP:0002020	Gastroesophageal reflux	54897	CASZ1	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6134	RPL10	ORPHA:459070
HP:0002020	Gastroesophageal reflux	6134	RPL10	OMIM:300998
HP:0002020	Gastroesophageal reflux	6134	RPL10	ORPHA:435938
HP:0002020	Gastroesophageal reflux	415	ARSL	ORPHA:79345
HP:0002020	Gastroesophageal reflux	1859	DYRK1A	ORPHA:464311
HP:0002020	Gastroesophageal reflux	1859	DYRK1A	ORPHA:268261
HP:0002020	Gastroesophageal reflux	79796	ALG9	ORPHA:79328
HP:0002020	Gastroesophageal reflux	4247	MGAT2	ORPHA:79329
HP:0002020	Gastroesophageal reflux	6804	STX1A	ORPHA:586
HP:0002020	Gastroesophageal reflux	6804	STX1A	ORPHA:904
HP:0002020	Gastroesophageal reflux	2947	GSTM3	ORPHA:586
HP:0002020	Gastroesophageal reflux	7040	TGFB1	ORPHA:586
HP:0002020	Gastroesophageal reflux	2729	GCLC	ORPHA:586
HP:0002020	Gastroesophageal reflux	1084	CEACAM3	ORPHA:586
HP:0002020	Gastroesophageal reflux	6556	SLC11A1	ORPHA:586
HP:0002020	Gastroesophageal reflux	51164	DCTN4	ORPHA:586
HP:0002020	Gastroesophageal reflux	3783	KCNN4	ORPHA:586
HP:0002020	Gastroesophageal reflux	4282	MIF	ORPHA:586
HP:0002020	Gastroesophageal reflux	1909	EDNRA	ORPHA:586
HP:0002020	Gastroesophageal reflux	6550	SLC9A3	ORPHA:586
HP:0002020	Gastroesophageal reflux	3162	HMOX1	ORPHA:586
HP:0002020	Gastroesophageal reflux	115019	SLC26A9	ORPHA:586
HP:0002020	Gastroesophageal reflux	3077	HFE	ORPHA:586
HP:0002020	Gastroesophageal reflux	11254	SLC6A14	ORPHA:586
HP:0002020	Gastroesophageal reflux	5265	SERPINA1	ORPHA:586
HP:0002020	Gastroesophageal reflux	1080	CFTR	ORPHA:586
HP:0002020	Gastroesophageal reflux	22802	CLCA4	ORPHA:586
HP:0002020	Gastroesophageal reflux	4680	CEACAM6	ORPHA:586
HP:0002020	Gastroesophageal reflux	3785	KCNQ2	ORPHA:1949
HP:0002020	Gastroesophageal reflux	3786	KCNQ3	ORPHA:1949
HP:0002020	Gastroesophageal reflux	11231	SEC63	ORPHA:2924
HP:0002020	Gastroesophageal reflux	5589	PRKCSH	ORPHA:2924
HP:0002020	Gastroesophageal reflux	4041	LRP5	ORPHA:2924
HP:0002020	Gastroesophageal reflux	2542	SLC37A4	OMIM:619525
HP:0002020	Gastroesophageal reflux	9772	TMEM94	OMIM:618316
HP:0002020	Gastroesophageal reflux	51341	ZBTB7A	OMIM:619769
HP:0002020	Gastroesophageal reflux	9338	TCEAL1	OMIM:301094
HP:0002020	Gastroesophageal reflux	6925	TCF4	OMIM:610954
HP:0002020	Gastroesophageal reflux	6925	TCF4	ORPHA:2896
HP:0002020	Gastroesophageal reflux	10743	RAI1	ORPHA:1713
HP:0002020	Gastroesophageal reflux	10743	RAI1	ORPHA:819
HP:0002020	Gastroesophageal reflux	23314	SATB2	ORPHA:576283
HP:0002020	Gastroesophageal reflux	23556	PIGN	OMIM:614080
HP:0002020	Gastroesophageal reflux	23556	PIGN	ORPHA:2059
HP:0002020	Gastroesophageal reflux	23556	PIGN	ORPHA:280633
HP:0002020	Gastroesophageal reflux	23162	MAPK8IP3	OMIM:618443
HP:0002020	Gastroesophageal reflux	54941	RNF125	OMIM:616260
HP:0002020	Gastroesophageal reflux	197258	FCSK	OMIM:618324
HP:0002020	Gastroesophageal reflux	79989	IFT56	OMIM:619534
HP:0002020	Gastroesophageal reflux	85365	ALG2	OMIM:607906
HP:0002020	Gastroesophageal reflux	259232	NALCN	OMIM:616266
HP:0002020	Gastroesophageal reflux	259232	NALCN	OMIM:615419
HP:0002020	Gastroesophageal reflux	25836	NIPBL	OMIM:122470
HP:0002020	Gastroesophageal reflux	25836	NIPBL	ORPHA:199
HP:0002020	Gastroesophageal reflux	23219	FBXO28	OMIM:619777
HP:0002020	Gastroesophageal reflux	51322	WAC	ORPHA:466950
HP:0002020	Gastroesophageal reflux	79087	ALG12	ORPHA:79324
HP:0002020	Gastroesophageal reflux	2200	FBN1	OMIM:184900
HP:0002020	Gastroesophageal reflux	2200	FBN1	ORPHA:2462
HP:0002020	Gastroesophageal reflux	3756	KCNH1	OMIM:611816
HP:0002020	Gastroesophageal reflux	3756	KCNH1	OMIM:135500
HP:0002020	Gastroesophageal reflux	641	BLM	ORPHA:125
HP:0002020	Gastroesophageal reflux	25970	SH2B1	ORPHA:261197
HP:0002020	Gastroesophageal reflux	1387	CREBBP	OMIM:618332
HP:0002020	Gastroesophageal reflux	1387	CREBBP	ORPHA:353281
HP:0002020	Gastroesophageal reflux	1387	CREBBP	OMIM:180849
HP:0002020	Gastroesophageal reflux	1387	CREBBP	ORPHA:353277
HP:0002020	Gastroesophageal reflux	8621	CDK13	OMIM:617360
HP:0002020	Gastroesophageal reflux	58497	PRUNE1	ORPHA:544469
HP:0002020	Gastroesophageal reflux	1642	DDB1	OMIM:619426
HP:0002020	Gastroesophageal reflux	6857	SYT1	OMIM:618218
HP:0002020	Gastroesophageal reflux	6857	SYT1	ORPHA:522077
HP:0002020	Gastroesophageal reflux	389827	MYMK	OMIM:254940
HP:0002020	Gastroesophageal reflux	2902	GRIN1	ORPHA:208447
HP:0002020	Gastroesophageal reflux	2902	GRIN1	OMIM:619814
HP:0002020	Gastroesophageal reflux	291	SLC25A4	ORPHA:254892
HP:0002020	Gastroesophageal reflux	56652	TWNK	ORPHA:254892
HP:0002020	Gastroesophageal reflux	11232	POLG2	ORPHA:254892
HP:0002020	Gastroesophageal reflux	11232	POLG2	OMIM:610131
HP:0002020	Gastroesophageal reflux	9361	LONP1	OMIM:600373
HP:0002020	Gastroesophageal reflux	9361	LONP1	ORPHA:79243
HP:0002020	Gastroesophageal reflux	6477	SIAH1	OMIM:619314
HP:0002020	Gastroesophageal reflux	4000	LMNA	OMIM:619793
HP:0002020	Gastroesophageal reflux	6885	MAP3K7	OMIM:617137
HP:0002020	Gastroesophageal reflux	6885	MAP3K7	OMIM:157800
HP:0002020	Gastroesophageal reflux	1235	CCR6	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1235	CCR6	ORPHA:220393
HP:0002020	Gastroesophageal reflux	79932	KIAA0319L	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1490	CCN2	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1490	CCN2	ORPHA:220393
HP:0002020	Gastroesophageal reflux	3663	IRF5	ORPHA:220402
HP:0002020	Gastroesophageal reflux	3663	IRF5	ORPHA:220393
HP:0002020	Gastroesophageal reflux	857	CAV1	ORPHA:220402
HP:0002020	Gastroesophageal reflux	857	CAV1	ORPHA:220393
HP:0002020	Gastroesophageal reflux	3123	HLA-DRB1	ORPHA:220402
HP:0002020	Gastroesophageal reflux	3123	HLA-DRB1	ORPHA:220393
HP:0002020	Gastroesophageal reflux	55869	HDAC8	OMIM:300882
HP:0002020	Gastroesophageal reflux	55869	HDAC8	ORPHA:199
HP:0002020	Gastroesophageal reflux	6299	SALL1	OMIM:107480
HP:0002020	Gastroesophageal reflux	29998	BICRA	OMIM:619325
HP:0002020	Gastroesophageal reflux	63895	PIEZO2	OMIM:617146
HP:0002020	Gastroesophageal reflux	2033	EP300	ORPHA:353284
HP:0002020	Gastroesophageal reflux	2033	EP300	OMIM:180849
HP:0002020	Gastroesophageal reflux	3930	LBR	ORPHA:779
HP:0002020	Gastroesophageal reflux	443	ASPA	ORPHA:314911
HP:0002020	Gastroesophageal reflux	4952	OCRL	ORPHA:534
HP:0002020	Gastroesophageal reflux	9126	SMC3	OMIM:610759
HP:0002020	Gastroesophageal reflux	9126	SMC3	ORPHA:199
HP:0002020	Gastroesophageal reflux	55777	MBD5	OMIM:156200
HP:0002020	Gastroesophageal reflux	112939	NACC1	OMIM:617393
HP:0002020	Gastroesophageal reflux	4998	ORC1	OMIM:224690
HP:0002020	Gastroesophageal reflux	54496	PRMT7	OMIM:617157
HP:0002020	Gastroesophageal reflux	54551	MAGEL2	ORPHA:398069
HP:0002020	Gastroesophageal reflux	54551	MAGEL2	OMIM:615547
HP:0002020	Gastroesophageal reflux	5831	PYCR1	OMIM:612940
HP:0002020	Gastroesophageal reflux	201163	FLCN	OMIM:610883
HP:0002020	Gastroesophageal reflux	51079	NDUFA13	OMIM:618249
HP:0002020	Gastroesophageal reflux	9719	ADAMTSL2	ORPHA:1901
HP:0002020	Gastroesophageal reflux	9509	ADAMTS2	ORPHA:1901
HP:0002020	Gastroesophageal reflux	1312	COMT	ORPHA:567
HP:0002020	Gastroesophageal reflux	221037	JMJD1C	ORPHA:567
HP:0002020	Gastroesophageal reflux	2812	GP1BB	ORPHA:567
HP:0002020	Gastroesophageal reflux	6239	RREB1	ORPHA:567
HP:0002020	Gastroesophageal reflux	6899	TBX1	ORPHA:567
HP:0002020	Gastroesophageal reflux	6899	TBX1	OMIM:188400
HP:0002020	Gastroesophageal reflux	7290	HIRA	ORPHA:567
HP:0002020	Gastroesophageal reflux	9632	SEC24C	ORPHA:567
HP:0002020	Gastroesophageal reflux	7353	UFD1	ORPHA:567
HP:0002020	Gastroesophageal reflux	421	ARVCF	ORPHA:567
HP:0002020	Gastroesophageal reflux	2778	GNAS	ORPHA:562
HP:0002020	Gastroesophageal reflux	22827	PUF60	ORPHA:508488
HP:0002020	Gastroesophageal reflux	3265	HRAS	ORPHA:3071
HP:0002020	Gastroesophageal reflux	7703	PCGF2	OMIM:618371
HP:0002020	Gastroesophageal reflux	9496	TBX4	ORPHA:261279
HP:0002020	Gastroesophageal reflux	2743	GLRB	ORPHA:3197
HP:0002020	Gastroesophageal reflux	2743	GLRB	OMIM:614619
HP:0002020	Gastroesophageal reflux	2741	GLRA1	ORPHA:3197
HP:0002020	Gastroesophageal reflux	10243	GPHN	ORPHA:3197
HP:0002020	Gastroesophageal reflux	84896	ATAD1	ORPHA:3197
HP:0002020	Gastroesophageal reflux	9152	SLC6A5	ORPHA:3197
HP:0002020	Gastroesophageal reflux	9152	SLC6A5	OMIM:614618
HP:0002020	Gastroesophageal reflux	1760	DMPK	ORPHA:589821
HP:0002020	Gastroesophageal reflux	372	ARCN1	OMIM:617164
HP:0002020	Gastroesophageal reflux	8802	SUCLG1	ORPHA:17
HP:0002020	Gastroesophageal reflux	1822	ATN1	OMIM:618494
HP:0002020	Gastroesophageal reflux	3188	HNRNPH2	OMIM:300986
HP:0002020	Gastroesophageal reflux	5000	ORC4	OMIM:613800
HP:0002020	Gastroesophageal reflux	6304	SATB1	OMIM:619229
HP:0002020	Gastroesophageal reflux	23594	ORC6	OMIM:613803
HP:0002020	Gastroesophageal reflux	990	CDC6	OMIM:613805
HP:0002020	Gastroesophageal reflux	2316	FLNA	ORPHA:75497
HP:0002020	Gastroesophageal reflux	2316	FLNA	ORPHA:98892
HP:0002020	Gastroesophageal reflux	4629	MYH11	OMIM:619350
HP:0002020	Gastroesophageal reflux	37	ACADVL	OMIM:201475
HP:0002020	Gastroesophageal reflux	2290	FOXG1	ORPHA:261144
HP:0002020	Gastroesophageal reflux	2290	FOXG1	OMIM:613454
HP:0002020	Gastroesophageal reflux	54809	SAMD9	OMIM:617053
HP:0002020	Gastroesophageal reflux	57003	CCDC47	OMIM:618268
HP:0002020	Gastroesophageal reflux	10681	GNB5	OMIM:617173
HP:0002020	Gastroesophageal reflux	10681	GNB5	OMIM:617182
HP:0002020	Gastroesophageal reflux	10681	GNB5	ORPHA:542306
HP:0002020	Gastroesophageal reflux	10526	IPO8	OMIM:619472
HP:0002020	Gastroesophageal reflux	64840	PORCN	ORPHA:2092
HP:0002020	Gastroesophageal reflux	10847	SRCAP	OMIM:619595
HP:0002020	Gastroesophageal reflux	10847	SRCAP	ORPHA:2044
HP:0002020	Gastroesophageal reflux	51604	PIGT	ORPHA:369837
HP:0002020	Gastroesophageal reflux	246329	STAC3	ORPHA:168572
HP:0002020	Gastroesophageal reflux	526	ATP6V1B2	ORPHA:79500
HP:0002020	Gastroesophageal reflux	57465	TBC1D24	ORPHA:79500
HP:0002020	Gastroesophageal reflux	11198	SUPT16H	OMIM:619480
HP:0002020	Gastroesophageal reflux	2887	GRB10	ORPHA:96182
HP:0002020	Gastroesophageal reflux	283446	MYO1H	OMIM:619482
HP:0002020	Gastroesophageal reflux	6872	TAF1	OMIM:300966
HP:0002020	Gastroesophageal reflux	374879	ZNF699	OMIM:619488
HP:0002020	Gastroesophageal reflux	4841	NONO	OMIM:300967
HP:0002020	Gastroesophageal reflux	4841	NONO	ORPHA:466791
HP:0002020	Gastroesophageal reflux	5058	PAK1	OMIM:618158
HP:0002020	Gastroesophageal reflux	57038	RARS2	OMIM:611523
HP:0002020	Gastroesophageal reflux	8911	CACNA1I	OMIM:620114
HP:0002020	Gastroesophageal reflux	10551	AGR2	OMIM:620233
HP:0002020	Gastroesophageal reflux	4221	MEN1	ORPHA:652
HP:0002020	Gastroesophageal reflux	1027	CDKN1B	ORPHA:652
HP:0002020	Gastroesophageal reflux	1026	CDKN1A	ORPHA:652
HP:0002020	Gastroesophageal reflux	1030	CDKN2B	ORPHA:652
HP:0002020	Gastroesophageal reflux	1031	CDKN2C	ORPHA:652
HP:0002020	Gastroesophageal reflux	80267	EDEM3	OMIM:619493
HP:0002020	Gastroesophageal reflux	1650	DDOST	ORPHA:300536
HP:0002020	Gastroesophageal reflux	1650	DDOST	OMIM:614507
HP:0002020	Gastroesophageal reflux	6748	SSR4	ORPHA:370927
HP:0002020	Gastroesophageal reflux	4508	MT-ATP6	ORPHA:225154
HP:0002020	Gastroesophageal reflux	23636	NUP62	ORPHA:225154
HP:0002020	Gastroesophageal reflux	103	ADAR	ORPHA:225154
HP:0002020	Gastroesophageal reflux	10479	SLC9A6	ORPHA:85278
HP:0002020	Gastroesophageal reflux	1984	EIF5A	OMIM:619376
HP:0002020	Gastroesophageal reflux	79651	RHBDF2	ORPHA:2198
HP:0002020	Gastroesophageal reflux	2581	GALC	ORPHA:206436
HP:0002020	Gastroesophageal reflux	5660	PSAP	ORPHA:206436
HP:0002020	Gastroesophageal reflux	10079	ATP9A	OMIM:620242
HP:0002020	Gastroesophageal reflux	9897	WASHC5	ORPHA:7
HP:0002020	Gastroesophageal reflux	28952	CCDC22	ORPHA:7
HP:0002020	Gastroesophageal reflux	2629	GBA1	OMIM:230900
HP:0002020	Gastroesophageal reflux	27161	AGO2	OMIM:619149
HP:0002020	Gastroesophageal reflux	55294	FBXW7	OMIM:620012
HP:0002020	Gastroesophageal reflux	9325	TRIP4	ORPHA:486815
HP:0002020	Gastroesophageal reflux	8243	SMC1A	OMIM:300590
HP:0002020	Gastroesophageal reflux	8243	SMC1A	OMIM:301044
HP:0002020	Gastroesophageal reflux	8243	SMC1A	ORPHA:199
HP:0002020	Gastroesophageal reflux	8243	SMC1A	ORPHA:220386
HP:0002020	Gastroesophageal reflux	8506	CNTNAP1	OMIM:618186
HP:0002020	Gastroesophageal reflux	55503	TRPV6	OMIM:618188
HP:0002020	Gastroesophageal reflux	5885	RAD21	OMIM:614701
HP:0002020	Gastroesophageal reflux	5885	RAD21	ORPHA:199
HP:0002020	Gastroesophageal reflux	7355	SLC35A2	ORPHA:356961
HP:0002020	Gastroesophageal reflux	7355	SLC35A2	OMIM:300896
HP:0002020	Gastroesophageal reflux	673	BRAF	OMIM:115150
HP:0002020	Gastroesophageal reflux	775	CACNA1C	OMIM:620029
HP:0002020	Gastroesophageal reflux	10274	STAG1	ORPHA:502434
HP:0002020	Gastroesophageal reflux	10274	STAG1	OMIM:617635
HP:0002020	Gastroesophageal reflux	64324	NSD1	ORPHA:821
HP:0002020	Gastroesophageal reflux	64324	NSD1	OMIM:117550
HP:0002020	Gastroesophageal reflux	29072	SETD2	ORPHA:821
HP:0002020	Gastroesophageal reflux	10297	APC2	ORPHA:821
HP:0002020	Gastroesophageal reflux	5447	POR	ORPHA:95699
HP:0002020	Gastroesophageal reflux	4784	NFIX	ORPHA:447980
HP:0002020	Gastroesophageal reflux	6531	SLC6A3	ORPHA:238455
HP:0002020	Gastroesophageal reflux	6531	SLC6A3	OMIM:613135
HP:0002020	Gastroesophageal reflux	4281	MID1	OMIM:300000
HP:0002020	Gastroesophageal reflux	80232	WDR26	ORPHA:513456
HP:0002020	Gastroesophageal reflux	51112	TRAPPC12	ORPHA:500144
HP:0002020	Gastroesophageal reflux	51506	UFC1	OMIM:618076
HP:0002020	Gastroesophageal reflux	2314	FLII	ORPHA:819
HP:0002020	Gastroesophageal reflux	23096	IQSEC2	ORPHA:819
HP:0002020	Gastroesophageal reflux	10522	DEAF1	ORPHA:819
HP:0002020	Gastroesophageal reflux	1717	DHCR7	ORPHA:818
HP:0002020	Gastroesophageal reflux	1717	DHCR7	OMIM:270400
HP:0002020	Gastroesophageal reflux	9915	ARNT2	OMIM:615926
HP:0002020	Gastroesophageal reflux	10978	CLP1	OMIM:615803
HP:0002020	Gastroesophageal reflux	5979	RET	ORPHA:99803
HP:0002020	Gastroesophageal reflux	429	ASCL1	ORPHA:99803
HP:0002020	Gastroesophageal reflux	8929	PHOX2B	ORPHA:99803
HP:0002020	Gastroesophageal reflux	3119	HLA-DQB1	ORPHA:930
HP:0002020	Gastroesophageal reflux	9244	CRLF1	ORPHA:930
HP:0002020	Gastroesophageal reflux	3117	HLA-DQA1	ORPHA:930
HP:0002020	Gastroesophageal reflux	4842	NOS1	ORPHA:930
HP:0002020	Gastroesophageal reflux	4868	NPHS1	OMIM:256300
HP:0002020	Gastroesophageal reflux	7298	TYMS	OMIM:620040
HP:0002020	Gastroesophageal reflux	6595	SMARCA2	OMIM:619293
HP:0002020	Gastroesophageal reflux	3899	AFF3	OMIM:619297
HP:0002020	Gastroesophageal reflux	1136	CHRNA3	OMIM:191800
HP:0002020	Gastroesophageal reflux	5119	CHMP1A	OMIM:614961
HP:0002020	Gastroesophageal reflux	6440	SFTPC	ORPHA:2032
HP:0002020	Gastroesophageal reflux	729238	SFTPA2	ORPHA:2032
HP:0002020	Gastroesophageal reflux	79991	STN1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	653509	SFTPA1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	21	ABCA3	ORPHA:2032
HP:0002020	Gastroesophageal reflux	1832	DSP	ORPHA:2032
HP:0002020	Gastroesophageal reflux	727897	MUC5B	ORPHA:2032
HP:0002020	Gastroesophageal reflux	10144	FAM13A	ORPHA:2032
HP:0002020	Gastroesophageal reflux	23250	ATP11A	ORPHA:2032
HP:0002020	Gastroesophageal reflux	91039	DPP9	ORPHA:2032
HP:0002020	Gastroesophageal reflux	51750	RTEL1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7012	TERC	ORPHA:2032
HP:0002020	Gastroesophageal reflux	5073	PARN	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7015	TERT	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7015	TERT	OMIM:614742
HP:0002020	Gastroesophageal reflux	546	ATRX	ORPHA:847
HP:0002020	Gastroesophageal reflux	546	ATRX	OMIM:309580
HP:0002020	Gastroesophageal reflux	546	ATRX	OMIM:301040
HP:0002020	Gastroesophageal reflux	8546	AP3B1	OMIM:608233
HP:0002020	Gastroesophageal reflux	4212	MEIS2	OMIM:600987
HP:0002020	Gastroesophageal reflux	7156	TOP3A	OMIM:618097
HP:0002020	Gastroesophageal reflux	132158	GLYCTK	OMIM:220120
HP:0002020	Gastroesophageal reflux	79813	EHMT1	OMIM:610253
HP:0002020	Gastroesophageal reflux	79813	EHMT1	ORPHA:261652
HP:0002020	Gastroesophageal reflux	25942	SIN3A	OMIM:613406
HP:0002020	Gastroesophageal reflux	53834	FGFRL1	OMIM:194190
HP:0002020	Gastroesophageal reflux	1487	CTBP1	OMIM:194190
HP:0002020	Gastroesophageal reflux	3954	LETM1	OMIM:194190
HP:0002020	Gastroesophageal reflux	7468	NSD2	OMIM:194190
HP:0002020	Gastroesophageal reflux	10815	CPLX1	OMIM:194190
HP:0002020	Gastroesophageal reflux	5826	ABCD4	OMIM:614857
HP:0002020	Gastroesophageal reflux	10558	SPTLC1	ORPHA:36386
HP:0002020	Gastroesophageal reflux	25923	ATL3	ORPHA:36386
HP:0002020	Gastroesophageal reflux	9517	SPTLC2	ORPHA:36386
HP:0002020	Gastroesophageal reflux	51062	ATL1	ORPHA:36386
HP:0002020	Gastroesophageal reflux	375	ARF1	ORPHA:98892
HP:0002020	Gastroesophageal reflux	4131	MAP1B	ORPHA:98892
HP:0002020	Gastroesophageal reflux	23327	NEDD4L	ORPHA:98892
HP:0002020	Gastroesophageal reflux	160418	TMTC3	ORPHA:98892
HP:0002020	Gastroesophageal reflux	10564	ARFGEF2	ORPHA:98892
HP:0002020	Gastroesophageal reflux	55780	ERMARD	ORPHA:98892
HP:0002020	Gastroesophageal reflux	7840	ALMS1	ORPHA:64
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:300673
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:312750
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:300260
HP:0002020	Gastroesophageal reflux	6792	CDKL5	OMIM:300672
HP:0002020	Gastroesophageal reflux	56006	SMG9	OMIM:616920
HP:0002020	Gastroesophageal reflux	2332	FMR1	ORPHA:908
HP:0002020	Gastroesophageal reflux	2332	FMR1	ORPHA:449291
HP:0002020	Gastroesophageal reflux	7461	CLIP2	ORPHA:904
HP:0002020	Gastroesophageal reflux	84277	DNAJC30	ORPHA:904
HP:0002020	Gastroesophageal reflux	8468	FKBP6	ORPHA:904
HP:0002020	Gastroesophageal reflux	5982	RFC2	ORPHA:904
HP:0002020	Gastroesophageal reflux	2969	GTF2I	ORPHA:904
HP:0002020	Gastroesophageal reflux	3984	LIMK1	ORPHA:904
HP:0002020	Gastroesophageal reflux	9569	GTF2IRD1	ORPHA:904
HP:0002020	Gastroesophageal reflux	155382	VPS37D	ORPHA:904
HP:0002020	Gastroesophageal reflux	155368	METTL27	ORPHA:904
HP:0002020	Gastroesophageal reflux	114049	BUD23	ORPHA:904
HP:0002020	Gastroesophageal reflux	7458	EIF4H	ORPHA:904
HP:0002020	Gastroesophageal reflux	84163	GTF2IRD2	ORPHA:904
HP:0002020	Gastroesophageal reflux	9275	BCL7B	ORPHA:904
HP:0002020	Gastroesophageal reflux	26608	TBL2	ORPHA:904
HP:0002020	Gastroesophageal reflux	653361	NCF1	ORPHA:904
HP:0002020	Gastroesophageal reflux	135886	TMEM270	ORPHA:904
HP:0002020	Gastroesophageal reflux	51085	MLXIPL	ORPHA:904
HP:0002020	Gastroesophageal reflux	51085	MLXIPL	OMIM:194050
HP:0002020	Gastroesophageal reflux	9031	BAZ1B	ORPHA:904
HP:0002020	Gastroesophageal reflux	2006	ELN	ORPHA:904
HP:0002020	Gastroesophageal reflux	2006	ELN	OMIM:194050
HP:0002020	Gastroesophageal reflux	10056	FARSB	OMIM:613658
HP:0002020	Gastroesophageal reflux	81031	SLC2A10	ORPHA:3342
HP:0002020	Gastroesophageal reflux	9289	ADGRG1	ORPHA:98889
HP:0002020	Gastroesophageal reflux	5297	PI4KA	ORPHA:98889
HP:0002020	Gastroesophageal reflux	27286	SRPX2	ORPHA:98889
HP:0002020	Gastroesophageal reflux	8085	KMT2D	OMIM:620186
HP:0002020	Gastroesophageal reflux	23137	SMC5	OMIM:620185
HP:0002020	Gastroesophageal reflux	51611	DPH5	OMIM:620070
HP:0002020	Gastroesophageal reflux	6558	SLC12A2	OMIM:619080
HP:0002020	Gastroesophageal reflux	58508	KMT2C	ORPHA:261652
HP:0002020	Gastroesophageal reflux	5594	MAPK1	OMIM:619087
HP:0002020	Gastroesophageal reflux	23522	KAT6B	ORPHA:85201
HP:0002020	Gastroesophageal reflux	23261	CAMTA1	OMIM:614756
HP:0002020	Gastroesophageal reflux	10472	ZBTB18	OMIM:612337
HP:0002020	Gastroesophageal reflux	3187	HNRNPH1	OMIM:620083
HP:0002020	Gastroesophageal reflux	2535	FZD2	OMIM:164745
HP:0002020	Gastroesophageal reflux	50628	GEMIN4	OMIM:617913
HP:0002020	Gastroesophageal reflux	6509	SLC1A4	ORPHA:447997
HP:0002020	Gastroesophageal reflux	171023	ASXL1	OMIM:605039
HP:0002020	Gastroesophageal reflux	55023	PHIP	ORPHA:589905
HP:0002020	Gastroesophageal reflux	54463	RETREG1	OMIM:201300
HP:0002020	Gastroesophageal reflux	65125	WNK1	OMIM:201300
HP:0002020	Gastroesophageal reflux	6335	SCN9A	OMIM:201300
HP:0002020	Gastroesophageal reflux	547	KIF1A	OMIM:201300
HP:0002020	Gastroesophageal reflux	667	DST	OMIM:614653
HP:0002020	Gastroesophageal reflux	55690	PACS1	ORPHA:329224
HP:0002020	Gastroesophageal reflux	51053	GMNN	OMIM:616835
HP:0002020	Gastroesophageal reflux	196528	ARID2	OMIM:617808
HP:0002020	Gastroesophageal reflux	1288	COL4A6	ORPHA:1018
HP:0002020	Gastroesophageal reflux	1287	COL4A5	ORPHA:1018
HP:0002020	Gastroesophageal reflux	91949	COG7	OMIM:608779
HP:0002020	Gastroesophageal reflux	9780	PIEZO1	OMIM:616843
HP:0002020	Gastroesophageal reflux	100151683	RNU4ATAC	OMIM:210710
HP:0002020	Gastroesophageal reflux	1305	COL13A1	OMIM:616720
HP:0002020	Gastroesophageal reflux	1305	COL13A1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	1280	COL2A1	ORPHA:93316
HP:0002020	Gastroesophageal reflux	85358	SHANK3	OMIM:606232
HP:0002020	Gastroesophageal reflux	85358	SHANK3	ORPHA:48652
HP:0002020	Gastroesophageal reflux	113235	SLC46A1	ORPHA:90045
HP:0002020	Gastroesophageal reflux	113179	ADAT3	ORPHA:363528
HP:0002020	Gastroesophageal reflux	11151	CORO1A	OMIM:615401
HP:0002020	Gastroesophageal reflux	54931	TRMT10C	OMIM:616974
HP:0002020	Gastroesophageal reflux	10157	AASS	ORPHA:2203
HP:0002020	Gastroesophageal reflux	3097	HIVEP2	OMIM:616977
HP:0002020	Gastroesophageal reflux	1644	DDC	OMIM:608643
HP:0002020	Gastroesophageal reflux	10560	SLC19A2	OMIM:249270
HP:0002020	Gastroesophageal reflux	6709	SPTAN1	OMIM:613477
HP:0002020	Gastroesophageal reflux	9378	NRXN1	OMIM:614325
HP:0002020	Gastroesophageal reflux	5160	PDHA1	ORPHA:79243
HP:0002020	Gastroesophageal reflux	84693	MCEE	OMIM:251120
HP:0002020	Gastroesophageal reflux	10943	MSL3	OMIM:301032
HP:0002020	Gastroesophageal reflux	5723	PSPH	ORPHA:79350
HP:0002020	Gastroesophageal reflux	26227	PHGDH	ORPHA:79351
HP:0002020	Gastroesophageal reflux	59336	PRDM13	OMIM:619909
HP:0002020	Gastroesophageal reflux	23476	BRD4	ORPHA:199
HP:0002020	Gastroesophageal reflux	538	ATP7A	ORPHA:198
HP:0002020	Gastroesophageal reflux	7874	USP7	ORPHA:500055
HP:0002020	Gastroesophageal reflux	10664	CTCF	ORPHA:363611
HP:0002020	Gastroesophageal reflux	6628	SNRPB	OMIM:117650
HP:0002020	Gastroesophageal reflux	29957	SLC25A24	OMIM:612289
HP:0002020	Gastroesophageal reflux	80152	CENPT	OMIM:618702
HP:0002020	Gastroesophageal reflux	3575	IL7R	OMIM:608971
HP:0002020	Gastroesophageal reflux	5293	PIK3CD	ORPHA:221139
HP:0002020	Gastroesophageal reflux	90417	KNSTRN	ORPHA:221139
HP:0002020	Gastroesophageal reflux	8405	SPOP	OMIM:618829
HP:0002020	Gastroesophageal reflux	10128	LRPPRC	ORPHA:70472
HP:0002020	Gastroesophageal reflux	83737	ITCH	OMIM:613385
HP:0002020	Gastroesophageal reflux	283989	TSEN54	ORPHA:2524
HP:0002020	Gastroesophageal reflux	116461	TSEN15	ORPHA:2524
HP:0002020	Gastroesophageal reflux	79042	TSEN34	ORPHA:2524
HP:0002020	Gastroesophageal reflux	80746	TSEN2	ORPHA:2524
HP:0002020	Gastroesophageal reflux	51091	SEPSECS	ORPHA:2524
HP:0002020	Gastroesophageal reflux	57688	ZSWIM6	OMIM:617865
HP:0002020	Gastroesophageal reflux	2890	GRIA1	OMIM:619927
HP:0002020	Gastroesophageal reflux	60482	SLC5A7	ORPHA:98914
HP:0002020	Gastroesophageal reflux	4649	MYO9A	ORPHA:98914
HP:0002020	Gastroesophageal reflux	1103	CHAT	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6576	SLC25A1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6843	VAMP1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	375790	AGRN	ORPHA:98914
HP:0002020	Gastroesophageal reflux	127833	SYT2	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6572	SLC18A3	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6616	SNAP25	ORPHA:98914
HP:0002020	Gastroesophageal reflux	7291	TWIST1	OMIM:617746
HP:0002020	Gastroesophageal reflux	139285	AMER1	OMIM:300373
HP:0002020	Gastroesophageal reflux	6651	SON	ORPHA:500150
HP:0002020	Gastroesophageal reflux	9757	KMT2B	OMIM:619934
HP:0002020	Gastroesophageal reflux	5430	POLR2A	OMIM:618603
HP:0002020	Gastroesophageal reflux	57731	SPTBN4	OMIM:617519
HP:0002020	Gastroesophageal reflux	29928	TIMM22	OMIM:618851
HP:0002020	Gastroesophageal reflux	8803	SUCLA2	OMIM:612073
HP:0002020	Gastroesophageal reflux	25871	NEPRO	OMIM:618853
HP:0002021	Pyloric stenosis	23476	BRD4	ORPHA:199
HP:0002021	Pyloric stenosis	9126	SMC3	ORPHA:199
HP:0002021	Pyloric stenosis	8243	SMC1A	ORPHA:199
HP:0002021	Pyloric stenosis	25836	NIPBL	ORPHA:199
HP:0002021	Pyloric stenosis	25836	NIPBL	OMIM:122470
HP:0002021	Pyloric stenosis	55869	HDAC8	ORPHA:199
HP:0002021	Pyloric stenosis	5885	RAD21	ORPHA:199
HP:0002021	Pyloric stenosis	375	ARF1	ORPHA:98892
HP:0002021	Pyloric stenosis	4131	MAP1B	ORPHA:98892
HP:0002021	Pyloric stenosis	2316	FLNA	ORPHA:98892
HP:0002021	Pyloric stenosis	2316	FLNA	OMIM:300048
HP:0002021	Pyloric stenosis	23327	NEDD4L	ORPHA:98892
HP:0002021	Pyloric stenosis	160418	TMTC3	ORPHA:98892
HP:0002021	Pyloric stenosis	10564	ARFGEF2	ORPHA:98892
HP:0002021	Pyloric stenosis	55780	ERMARD	ORPHA:98892
HP:0002021	Pyloric stenosis	8260	NAA10	OMIM:309800
HP:0002021	Pyloric stenosis	54880	BCOR	OMIM:309800
HP:0002021	Pyloric stenosis	1859	DYRK1A	ORPHA:268261
HP:0002021	Pyloric stenosis	91754	NEK9	OMIM:614262
HP:0002021	Pyloric stenosis	8425	LTBP4	OMIM:613177
HP:0002021	Pyloric stenosis	9508	ADAMTS3	ORPHA:2136
HP:0002021	Pyloric stenosis	147372	CCBE1	ORPHA:2136
HP:0002021	Pyloric stenosis	79633	FAT4	ORPHA:2136
HP:0002021	Pyloric stenosis	6885	MAP3K7	OMIM:617137
HP:0002021	Pyloric stenosis	4744	NEFH	OMIM:616924
HP:0002021	Pyloric stenosis	9759	HDAC4	ORPHA:1001
HP:0002021	Pyloric stenosis	5590	PRKCZ	ORPHA:1606
HP:0002021	Pyloric stenosis	2563	GABRD	ORPHA:1606
HP:0002021	Pyloric stenosis	23013	SPEN	ORPHA:1606
HP:0002021	Pyloric stenosis	8510	MMP23B	ORPHA:1606
HP:0002021	Pyloric stenosis	7798	LUZP1	ORPHA:1606
HP:0002021	Pyloric stenosis	6497	SKI	ORPHA:1606
HP:0002021	Pyloric stenosis	10630	PDPN	ORPHA:1606
HP:0002021	Pyloric stenosis	3339	HSPG2	ORPHA:1606
HP:0002021	Pyloric stenosis	10277	UBE4B	ORPHA:1606
HP:0002021	Pyloric stenosis	8514	KCNAB2	ORPHA:1606
HP:0002021	Pyloric stenosis	473	RERE	ORPHA:1606
HP:0002021	Pyloric stenosis	63976	PRDM16	ORPHA:1606
HP:0002021	Pyloric stenosis	54897	CASZ1	ORPHA:1606
HP:0002021	Pyloric stenosis	81031	SLC2A10	ORPHA:3342
HP:0002021	Pyloric stenosis	4534	MTM1	OMIM:310400
HP:0002021	Pyloric stenosis	6928	HNF1B	ORPHA:93111
HP:0002021	Pyloric stenosis	9839	ZEB2	OMIM:235730
HP:0002021	Pyloric stenosis	9839	ZEB2	ORPHA:261537
HP:0002021	Pyloric stenosis	9839	ZEB2	ORPHA:261552
HP:0002021	Pyloric stenosis	274	BIN1	ORPHA:169189
HP:0002021	Pyloric stenosis	64419	MTMR14	ORPHA:169189
HP:0002021	Pyloric stenosis	4618	MYF6	ORPHA:169189
HP:0002021	Pyloric stenosis	1785	DNM2	ORPHA:169189
HP:0002021	Pyloric stenosis	6261	RYR1	ORPHA:169189
HP:0002021	Pyloric stenosis	80781	COL18A1	OMIM:267750
HP:0002021	Pyloric stenosis	80781	COL18A1	ORPHA:1571
HP:0002021	Pyloric stenosis	388015	RTL1	ORPHA:96184
HP:0002021	Pyloric stenosis	8788	DLK1	ORPHA:96184
HP:0002021	Pyloric stenosis	55384	MEG3	ORPHA:96184
HP:0002021	Pyloric stenosis	5009	OTC	ORPHA:664
HP:0002021	Pyloric stenosis	374879	ZNF699	OMIM:619488
HP:0002021	Pyloric stenosis	613	BCR	ORPHA:261330
HP:0002021	Pyloric stenosis	1399	CRKL	ORPHA:261330
HP:0002021	Pyloric stenosis	5594	MAPK1	ORPHA:261330
HP:0002021	Pyloric stenosis	1723	DHODH	OMIM:263750
HP:0002021	Pyloric stenosis	5831	PYCR1	OMIM:614438
HP:0002021	Pyloric stenosis	1717	DHCR7	ORPHA:818
HP:0002021	Pyloric stenosis	1717	DHCR7	OMIM:270400
HP:0002021	Pyloric stenosis	9968	MED12	OMIM:305450
HP:0002021	Pyloric stenosis	9968	MED12	ORPHA:93932
HP:0002021	Pyloric stenosis	1536	CYBB	ORPHA:379
HP:0002021	Pyloric stenosis	4688	NCF2	ORPHA:379
HP:0002021	Pyloric stenosis	1535	CYBA	ORPHA:379
HP:0002021	Pyloric stenosis	4689	NCF4	ORPHA:379
HP:0002021	Pyloric stenosis	653361	NCF1	ORPHA:379
HP:0002021	Pyloric stenosis	79415	CYBC1	ORPHA:379
HP:0002021	Pyloric stenosis	6926	TBX3	ORPHA:3138
HP:0002021	Pyloric stenosis	6926	TBX3	OMIM:181450
HP:0002021	Pyloric stenosis	4868	NPHS1	OMIM:256300
HP:0002021	Pyloric stenosis	63895	PIEZO2	OMIM:248700
HP:0002021	Pyloric stenosis	63895	PIEZO2	ORPHA:2461
HP:0002021	Pyloric stenosis	4784	NFIX	OMIM:602535
HP:0002021	Pyloric stenosis	5528	PPP2R5D	ORPHA:457279
HP:0002021	Pyloric stenosis	5528	PPP2R5D	OMIM:616355
HP:0002021	Pyloric stenosis	4791	NFKB2	OMIM:615577
HP:0002021	Pyloric stenosis	4052	LTBP1	ORPHA:90349
HP:0002021	Pyloric stenosis	30008	EFEMP2	ORPHA:90349
HP:0002021	Pyloric stenosis	10516	FBLN5	ORPHA:90349
HP:0002021	Pyloric stenosis	284058	KANSL1	OMIM:610443
HP:0002021	Pyloric stenosis	9896	FIG4	OMIM:216340
HP:0002021	Pyloric stenosis	9896	FIG4	ORPHA:3472
HP:0002021	Pyloric stenosis	7020	TFAP2A	OMIM:113620
HP:0002021	Pyloric stenosis	3914	LAMB3	OMIM:226700
HP:0002021	Pyloric stenosis	3909	LAMA3	OMIM:226700
HP:0002021	Pyloric stenosis	3918	LAMC2	OMIM:226700
HP:0002021	Pyloric stenosis	55697	VAC14	ORPHA:3472
HP:0002021	Pyloric stenosis	404672	GTF2H5	OMIM:616395
HP:0002021	Pyloric stenosis	25970	SH2B1	ORPHA:261197
HP:0002021	Pyloric stenosis	127833	SYT2	OMIM:619461
HP:0002021	Pyloric stenosis	529	ATP6V1E1	OMIM:617402
HP:0002021	Pyloric stenosis	55012	PPP2R3C	OMIM:618419
HP:0002021	Pyloric stenosis	5062	PAK2	OMIM:618458
HP:0002021	Pyloric stenosis	5062	PAK2	ORPHA:1571
HP:0002021	Pyloric stenosis	284119	CAVIN1	OMIM:613327
HP:0002021	Pyloric stenosis	55670	PEX26	ORPHA:912
HP:0002021	Pyloric stenosis	5824	PEX19	ORPHA:912
HP:0002021	Pyloric stenosis	5828	PEX2	ORPHA:912
HP:0002021	Pyloric stenosis	8504	PEX3	ORPHA:912
HP:0002021	Pyloric stenosis	8799	PEX11B	ORPHA:912
HP:0002021	Pyloric stenosis	9409	PEX16	ORPHA:912
HP:0002021	Pyloric stenosis	5190	PEX6	ORPHA:912
HP:0002021	Pyloric stenosis	5830	PEX5	ORPHA:912
HP:0002021	Pyloric stenosis	5189	PEX1	ORPHA:912
HP:0002021	Pyloric stenosis	5193	PEX12	ORPHA:912
HP:0002021	Pyloric stenosis	5194	PEX13	ORPHA:912
HP:0002021	Pyloric stenosis	5195	PEX14	ORPHA:912
HP:0002021	Pyloric stenosis	5192	PEX10	ORPHA:912
HP:0002021	Pyloric stenosis	3265	HRAS	OMIM:218040
HP:0002021	Pyloric stenosis	871	SERPINH1	OMIM:613848
HP:0002021	Pyloric stenosis	2313	FLI1	ORPHA:2308
HP:0002021	Pyloric stenosis	2263	FGFR2	OMIM:101200
HP:0002023	Anal atresia	2737	GLI3	ORPHA:672
HP:0002023	Anal atresia	2737	GLI3	OMIM:146510
HP:0002023	Anal atresia	9361	LONP1	OMIM:600373
HP:0002023	Anal atresia	2294	FOXF1	OMIM:265380
HP:0002023	Anal atresia	2294	FOXF1	ORPHA:210122
HP:0002023	Anal atresia	341640	FREM2	ORPHA:2052
HP:0002023	Anal atresia	341640	FREM2	OMIM:617666
HP:0002023	Anal atresia	80144	FRAS1	ORPHA:2052
HP:0002023	Anal atresia	23426	GRIP1	ORPHA:2052
HP:0002023	Anal atresia	4683	NBN	OMIM:251260
HP:0002023	Anal atresia	4683	NBN	ORPHA:647
HP:0002023	Anal atresia	117581	TWIST2	OMIM:227260
HP:0002023	Anal atresia	117581	TWIST2	ORPHA:1807
HP:0002023	Anal atresia	23556	PIGN	ORPHA:2059
HP:0002023	Anal atresia	23556	PIGN	ORPHA:280633
HP:0002023	Anal atresia	23556	PIGN	OMIM:614080
HP:0002023	Anal atresia	8195	MKKS	OMIM:236700
HP:0002023	Anal atresia	8195	MKKS	ORPHA:2473
HP:0002023	Anal atresia	145173	B3GLCT	ORPHA:709
HP:0002023	Anal atresia	6650	CAPN15	OMIM:619318
HP:0002023	Anal atresia	1131	CHRM3	ORPHA:2970
HP:0002023	Anal atresia	1131	CHRM3	OMIM:100100
HP:0002023	Anal atresia	57167	SALL4	OMIM:607323
HP:0002023	Anal atresia	57167	SALL4	ORPHA:2307
HP:0002023	Anal atresia	57167	SALL4	OMIM:147750
HP:0002023	Anal atresia	7473	WNT3	ORPHA:3301
HP:0002023	Anal atresia	7473	WNT3	OMIM:273395
HP:0002023	Anal atresia	340419	RSPO2	ORPHA:3301
HP:0002023	Anal atresia	81839	VANGL1	ORPHA:3027
HP:0002023	Anal atresia	80199	FUZ	ORPHA:3027
HP:0002023	Anal atresia	10084	PQBP1	ORPHA:93950
HP:0002023	Anal atresia	10084	PQBP1	OMIM:309500
HP:0002023	Anal atresia	197131	UBR1	OMIM:243800
HP:0002023	Anal atresia	197131	UBR1	ORPHA:2315
HP:0002023	Anal atresia	6299	SALL1	OMIM:107480
HP:0002023	Anal atresia	6299	SALL1	ORPHA:857
HP:0002023	Anal atresia	267010	RNU12	OMIM:603116
HP:0002023	Anal atresia	55112	DYNC2I1	ORPHA:93271
HP:0002023	Anal atresia	57560	IFT80	ORPHA:93271
HP:0002023	Anal atresia	57539	WDR35	ORPHA:93271
HP:0002023	Anal atresia	79659	DYNC2H1	ORPHA:93271
HP:0002023	Anal atresia	79659	DYNC2H1	OMIM:613091
HP:0002023	Anal atresia	89891	DYNC2I2	ORPHA:93271
HP:0002023	Anal atresia	4281	MID1	OMIM:300000
HP:0002023	Anal atresia	4281	MID1	ORPHA:2745
HP:0002023	Anal atresia	374654	KIF7	OMIM:200990
HP:0002023	Anal atresia	2623	GATA1	OMIM:190685
HP:0002023	Anal atresia	3313	HSPA9	OMIM:616854
HP:0002023	Anal atresia	2137	EXTL3	OMIM:617425
HP:0002023	Anal atresia	999	CDH1	OMIM:119580
HP:0002023	Anal atresia	999	CDH1	ORPHA:1997
HP:0002023	Anal atresia	29954	POMT2	OMIM:236670
HP:0002023	Anal atresia	9215	LARGE1	OMIM:236670
HP:0002023	Anal atresia	79147	FKRP	OMIM:236670
HP:0002023	Anal atresia	10585	POMT1	OMIM:236670
HP:0002023	Anal atresia	2218	FKTN	OMIM:236670
HP:0002023	Anal atresia	2187	FANCB	ORPHA:3412
HP:0002023	Anal atresia	2187	FANCB	ORPHA:84
HP:0002023	Anal atresia	2187	FANCB	OMIM:314390
HP:0002023	Anal atresia	1500	CTNND1	ORPHA:1997
HP:0002023	Anal atresia	6926	TBX3	ORPHA:3138
HP:0002023	Anal atresia	6926	TBX3	OMIM:181450
HP:0002023	Anal atresia	7547	ZIC3	OMIM:306955
HP:0002023	Anal atresia	7547	ZIC3	OMIM:314390
HP:0002023	Anal atresia	4072	EPCAM	ORPHA:92050
HP:0002023	Anal atresia	105371045	PERCC1	ORPHA:92050
HP:0002023	Anal atresia	2263	FGFR2	ORPHA:93260
HP:0002023	Anal atresia	2263	FGFR2	ORPHA:93259
HP:0002023	Anal atresia	9401	RECQL4	ORPHA:1225
HP:0002023	Anal atresia	9401	RECQL4	OMIM:218600
HP:0002023	Anal atresia	23522	KAT6B	OMIM:606170
HP:0002023	Anal atresia	9968	MED12	ORPHA:93932
HP:0002023	Anal atresia	9968	MED12	OMIM:305450
HP:0002023	Anal atresia	5308	PITX2	OMIM:180500
HP:0002023	Anal atresia	672	BRCA1	ORPHA:84
HP:0002023	Anal atresia	10459	MAD2L2	ORPHA:84
HP:0002023	Anal atresia	7516	XRCC2	ORPHA:84
HP:0002023	Anal atresia	29089	UBE2T	ORPHA:84
HP:0002023	Anal atresia	675	BRCA2	ORPHA:84
HP:0002023	Anal atresia	675	BRCA2	OMIM:605724
HP:0002023	Anal atresia	55120	FANCL	ORPHA:84
HP:0002023	Anal atresia	55120	FANCL	OMIM:614083
HP:0002023	Anal atresia	2177	FANCD2	ORPHA:84
HP:0002023	Anal atresia	2175	FANCA	ORPHA:84
HP:0002023	Anal atresia	2176	FANCC	ORPHA:84
HP:0002023	Anal atresia	2178	FANCE	ORPHA:84
HP:0002023	Anal atresia	2188	FANCF	ORPHA:84
HP:0002023	Anal atresia	2189	FANCG	ORPHA:84
HP:0002023	Anal atresia	5888	RAD51	ORPHA:84
HP:0002023	Anal atresia	5888	RAD51	OMIM:617244
HP:0002023	Anal atresia	5889	RAD51C	ORPHA:84
HP:0002023	Anal atresia	5889	RAD51C	OMIM:613390
HP:0002023	Anal atresia	55159	RFWD3	ORPHA:84
HP:0002023	Anal atresia	83990	BRIP1	ORPHA:84
HP:0002023	Anal atresia	57697	FANCM	ORPHA:84
HP:0002023	Anal atresia	79728	PALB2	ORPHA:84
HP:0002023	Anal atresia	84464	SLX4	ORPHA:84
HP:0002023	Anal atresia	2072	ERCC4	ORPHA:84
HP:0002023	Anal atresia	55215	FANCI	ORPHA:84
HP:0002023	Anal atresia	1312	COMT	ORPHA:567
HP:0002023	Anal atresia	221037	JMJD1C	ORPHA:567
HP:0002023	Anal atresia	2812	GP1BB	ORPHA:567
HP:0002023	Anal atresia	6239	RREB1	ORPHA:567
HP:0002023	Anal atresia	6899	TBX1	ORPHA:567
HP:0002023	Anal atresia	7290	HIRA	ORPHA:567
HP:0002023	Anal atresia	9632	SEC24C	ORPHA:567
HP:0002023	Anal atresia	7353	UFD1	ORPHA:567
HP:0002023	Anal atresia	421	ARVCF	ORPHA:567
HP:0002023	Anal atresia	25942	SIN3A	ORPHA:94065
HP:0002023	Anal atresia	25	ABL1	OMIM:617602
HP:0002023	Anal atresia	23065	EMC1	OMIM:616875
HP:0002023	Anal atresia	23065	EMC1	ORPHA:480898
HP:0002023	Anal atresia	55012	PPP2R3C	OMIM:618419
HP:0002023	Anal atresia	23495	TNFRSF13B	ORPHA:1572
HP:0002023	Anal atresia	4790	NFKB1	ORPHA:1572
HP:0002023	Anal atresia	4791	NFKB2	ORPHA:1572
HP:0002023	Anal atresia	115650	TNFRSF13C	ORPHA:1572
HP:0002023	Anal atresia	1380	CR2	ORPHA:1572
HP:0002023	Anal atresia	8742	TNFSF12	ORPHA:1572
HP:0002023	Anal atresia	5580	PRKCD	ORPHA:1572
HP:0002023	Anal atresia	930	CD19	ORPHA:1572
HP:0002023	Anal atresia	29851	ICOS	ORPHA:1572
HP:0002023	Anal atresia	931	MS4A1	ORPHA:1572
HP:0002023	Anal atresia	975	CD81	ORPHA:1572
HP:0002023	Anal atresia	359948	IRF2BP2	ORPHA:1572
HP:0002023	Anal atresia	55636	CHD7	OMIM:214800
HP:0002023	Anal atresia	10046	MAMLD1	ORPHA:95706
HP:0002023	Anal atresia	367	AR	ORPHA:95706
HP:0002023	Anal atresia	8642	DCHS1	OMIM:601390
HP:0002023	Anal atresia	6862	TBXT	OMIM:615709
HP:0002023	Anal atresia	4613	MYCN	ORPHA:391641
HP:0002023	Anal atresia	8260	NAA10	OMIM:309800
HP:0002023	Anal atresia	54880	BCOR	OMIM:309800
HP:0002023	Anal atresia	1349	COX7B	OMIM:309801
HP:0002023	Anal atresia	3052	HCCS	OMIM:309801
HP:0002023	Anal atresia	54539	NDUFB11	OMIM:309801
HP:0002023	Anal atresia	55773	TBC1D23	OMIM:617695
HP:0002023	Anal atresia	92002	CCNQ	OMIM:300707
HP:0002023	Anal atresia	92002	CCNQ	ORPHA:140952
HP:0002023	Anal atresia	8239	USP9X	ORPHA:480880
HP:0002023	Anal atresia	8239	USP9X	OMIM:300968
HP:0002023	Anal atresia	84720	PIGO	OMIM:614749
HP:0002023	Anal atresia	10653	SPINT2	OMIM:270420
HP:0002023	Anal atresia	79228	THOC6	ORPHA:363444
HP:0002023	Anal atresia	79813	EHMT1	ORPHA:261652
HP:0002023	Anal atresia	58508	KMT2C	ORPHA:261652
HP:0002023	Anal atresia	8318	CDC45	OMIM:617063
HP:0002023	Anal atresia	51339	DACT1	OMIM:617466
HP:0002023	Anal atresia	51339	DACT1	ORPHA:857
HP:0002023	Anal atresia	51339	DACT1	ORPHA:63260
HP:0002023	Anal atresia	23112	TNRC6B	OMIM:619243
HP:0002023	Anal atresia	7291	TWIST1	OMIM:617746
HP:0002023	Anal atresia	139285	AMER1	OMIM:300373
HP:0002023	Anal atresia	9897	WASHC5	OMIM:220210
HP:0002023	Anal atresia	9897	WASHC5	ORPHA:7
HP:0002023	Anal atresia	153241	CEP120	OMIM:616300
HP:0002023	Anal atresia	7476	WNT7A	ORPHA:2879
HP:0002023	Anal atresia	3110	MNX1	OMIM:176450
HP:0002023	Anal atresia	1807	DPYS	OMIM:222748
HP:0002023	Anal atresia	26123	TCTN3	ORPHA:2753
HP:0002023	Anal atresia	3239	HOXD13	ORPHA:887
HP:0002023	Anal atresia	28952	CCDC22	ORPHA:7
HP:0002023	Anal atresia	51733	UPB1	OMIM:613161
HP:0002023	Anal atresia	54903	MKS1	OMIM:249000
HP:0002023	Anal atresia	54101	RIPK4	OMIM:263650
HP:0002023	Anal atresia	9573	GDF3	ORPHA:2345
HP:0002023	Anal atresia	392255	GDF6	ORPHA:2345
HP:0002023	Anal atresia	4222	MEOX1	ORPHA:2345
HP:0002023	Anal atresia	27152	INTU	OMIM:617925
HP:0002023	Anal atresia	2719	GPC3	OMIM:312870
HP:0002023	Anal atresia	2239	GPC4	OMIM:312870
HP:0002023	Anal atresia	8085	KMT2D	OMIM:147920
HP:0002023	Anal atresia	7403	KDM6A	OMIM:147920
HP:0002024	Malabsorption	171023	ASXL1	ORPHA:98850
HP:0002024	Malabsorption	54790	TET2	ORPHA:98850
HP:0002024	Malabsorption	867	CBL	ORPHA:98850
HP:0002024	Malabsorption	861	RUNX1	ORPHA:98850
HP:0002024	Malabsorption	6427	SRSF2	ORPHA:98850
HP:0002024	Malabsorption	118429	ANTXR2	ORPHA:2176
HP:0002024	Malabsorption	7518	XRCC4	ORPHA:99812
HP:0002024	Malabsorption	3981	LIG4	ORPHA:99812
HP:0002024	Malabsorption	3981	LIG4	ORPHA:235
HP:0002024	Malabsorption	2316	FLNA	ORPHA:99811
HP:0002024	Malabsorption	4072	EPCAM	ORPHA:144
HP:0002024	Malabsorption	4072	EPCAM	ORPHA:92050
HP:0002024	Malabsorption	4292	MLH1	ORPHA:144
HP:0002024	Malabsorption	5395	PMS2	ORPHA:144
HP:0002024	Malabsorption	27030	MLH3	ORPHA:144
HP:0002024	Malabsorption	22909	FAN1	ORPHA:144
HP:0002024	Malabsorption	7048	TGFBR2	ORPHA:144
HP:0002024	Malabsorption	3845	KRAS	ORPHA:144
HP:0002024	Malabsorption	5290	PIK3CA	ORPHA:144
HP:0002024	Malabsorption	2956	MSH6	ORPHA:144
HP:0002024	Malabsorption	5378	PMS1	ORPHA:144
HP:0002024	Malabsorption	4436	MSH2	ORPHA:144
HP:0002024	Malabsorption	55630	SLC39A4	ORPHA:37
HP:0002024	Malabsorption	197131	UBR1	OMIM:243800
HP:0002024	Malabsorption	197131	UBR1	ORPHA:2315
HP:0002024	Malabsorption	6514	SLC2A2	OMIM:227810
HP:0002024	Malabsorption	50674	NEUROG3	ORPHA:83620
HP:0002024	Malabsorption	64218	SEMA4A	ORPHA:440437
HP:0002024	Malabsorption	657	BMPR1A	ORPHA:440437
HP:0002024	Malabsorption	6224	RPS20	ORPHA:440437
HP:0002024	Malabsorption	10525	HYOU1	OMIM:233600
HP:0002024	Malabsorption	4952	OCRL	ORPHA:534
HP:0002024	Malabsorption	1536	CYBB	ORPHA:379
HP:0002024	Malabsorption	4688	NCF2	ORPHA:379
HP:0002024	Malabsorption	1535	CYBA	ORPHA:379
HP:0002024	Malabsorption	4689	NCF4	ORPHA:379
HP:0002024	Malabsorption	653361	NCF1	ORPHA:379
HP:0002024	Malabsorption	653361	NCF1	ORPHA:904
HP:0002024	Malabsorption	79415	CYBC1	ORPHA:379
HP:0002024	Malabsorption	170302	ARX	ORPHA:452
HP:0002024	Malabsorption	105371045	PERCC1	ORPHA:92050
HP:0002024	Malabsorption	9663	LPIN2	ORPHA:77297
HP:0002024	Malabsorption	6023	RMRP	ORPHA:175
HP:0002024	Malabsorption	6023	RMRP	OMIM:250250
HP:0002024	Malabsorption	9401	RECQL4	ORPHA:1225
HP:0002024	Malabsorption	2717	GLA	ORPHA:324
HP:0002024	Malabsorption	3248	HPGD	ORPHA:2796
HP:0002024	Malabsorption	6578	SLCO2A1	ORPHA:2796
HP:0002024	Malabsorption	538	ATP7A	ORPHA:565
HP:0002024	Malabsorption	2068	ERCC2	OMIM:601675
HP:0002024	Malabsorption	3070	HELLS	ORPHA:2268
HP:0002024	Malabsorption	1789	DNMT3B	ORPHA:2268
HP:0002024	Malabsorption	1789	DNMT3B	OMIM:242860
HP:0002024	Malabsorption	83879	CDCA7	ORPHA:2268
HP:0002024	Malabsorption	9841	ZBTB24	ORPHA:2268
HP:0002024	Malabsorption	113235	SLC46A1	OMIM:229050
HP:0002024	Malabsorption	175	AGA	ORPHA:93
HP:0002024	Malabsorption	54888	NSUN2	ORPHA:235
HP:0002024	Malabsorption	1499	CTNNB1	ORPHA:873
HP:0002024	Malabsorption	324	APC	ORPHA:873
HP:0002024	Malabsorption	30011	SH3KBP1	OMIM:300310
HP:0002024	Malabsorption	4261	CIITA	OMIM:209920
HP:0002024	Malabsorption	5994	RFXAP	OMIM:209920
HP:0002024	Malabsorption	5993	RFX5	OMIM:209920
HP:0002024	Malabsorption	8625	RFXANK	OMIM:209920
HP:0002024	Malabsorption	222546	RFX6	OMIM:615710
HP:0002024	Malabsorption	9508	ADAMTS3	ORPHA:2136
HP:0002024	Malabsorption	147372	CCBE1	ORPHA:2136
HP:0002024	Malabsorption	79633	FAT4	ORPHA:2136
HP:0002024	Malabsorption	6804	STX1A	ORPHA:904
HP:0002024	Malabsorption	6804	STX1A	ORPHA:586
HP:0002024	Malabsorption	7461	CLIP2	ORPHA:904
HP:0002024	Malabsorption	84277	DNAJC30	ORPHA:904
HP:0002024	Malabsorption	8468	FKBP6	ORPHA:904
HP:0002024	Malabsorption	5982	RFC2	ORPHA:904
HP:0002024	Malabsorption	2969	GTF2I	ORPHA:904
HP:0002024	Malabsorption	3984	LIMK1	ORPHA:904
HP:0002024	Malabsorption	9569	GTF2IRD1	ORPHA:904
HP:0002024	Malabsorption	155382	VPS37D	ORPHA:904
HP:0002024	Malabsorption	155368	METTL27	ORPHA:904
HP:0002024	Malabsorption	114049	BUD23	ORPHA:904
HP:0002024	Malabsorption	7458	EIF4H	ORPHA:904
HP:0002024	Malabsorption	84163	GTF2IRD2	ORPHA:904
HP:0002024	Malabsorption	9275	BCL7B	ORPHA:904
HP:0002024	Malabsorption	26608	TBL2	ORPHA:904
HP:0002024	Malabsorption	135886	TMEM270	ORPHA:904
HP:0002024	Malabsorption	51085	MLXIPL	ORPHA:904
HP:0002024	Malabsorption	9031	BAZ1B	ORPHA:904
HP:0002024	Malabsorption	2006	ELN	ORPHA:904
HP:0002024	Malabsorption	1890	TYMP	OMIM:603041
HP:0002024	Malabsorption	5428	POLG	OMIM:603041
HP:0002024	Malabsorption	5428	POLG	OMIM:613662
HP:0002024	Malabsorption	493856	CISD2	ORPHA:3463
HP:0002024	Malabsorption	7466	WFS1	ORPHA:3463
HP:0002024	Malabsorption	4567	MT-TL1	ORPHA:225
HP:0002024	Malabsorption	4556	MT-TE	ORPHA:225
HP:0002024	Malabsorption	4566	MT-TK	ORPHA:225
HP:0002024	Malabsorption	6523	SLC5A1	OMIM:606824
HP:0002024	Malabsorption	4210	MEFV	ORPHA:342
HP:0002024	Malabsorption	4210	MEFV	ORPHA:117
HP:0002024	Malabsorption	2947	GSTM3	ORPHA:586
HP:0002024	Malabsorption	7040	TGFB1	ORPHA:586
HP:0002024	Malabsorption	2729	GCLC	ORPHA:586
HP:0002024	Malabsorption	1084	CEACAM3	ORPHA:586
HP:0002024	Malabsorption	6556	SLC11A1	ORPHA:586
HP:0002024	Malabsorption	51164	DCTN4	ORPHA:586
HP:0002024	Malabsorption	3783	KCNN4	ORPHA:586
HP:0002024	Malabsorption	4282	MIF	ORPHA:586
HP:0002024	Malabsorption	1909	EDNRA	ORPHA:586
HP:0002024	Malabsorption	6550	SLC9A3	ORPHA:586
HP:0002024	Malabsorption	3162	HMOX1	ORPHA:586
HP:0002024	Malabsorption	115019	SLC26A9	ORPHA:586
HP:0002024	Malabsorption	3077	HFE	ORPHA:586
HP:0002024	Malabsorption	11254	SLC6A14	ORPHA:586
HP:0002024	Malabsorption	5265	SERPINA1	ORPHA:586
HP:0002024	Malabsorption	1080	CFTR	ORPHA:586
HP:0002024	Malabsorption	22802	CLCA4	ORPHA:586
HP:0002024	Malabsorption	4680	CEACAM6	ORPHA:586
HP:0002024	Malabsorption	5244	ABCB4	OMIM:602347
HP:0002024	Malabsorption	8567	MADD	OMIM:619004
HP:0002024	Malabsorption	6288	SAA1	ORPHA:85445
HP:0002024	Malabsorption	57570	TRMT5	OMIM:616539
HP:0002024	Malabsorption	3662	IRF4	ORPHA:3452
HP:0002024	Malabsorption	695	BTK	ORPHA:47
HP:0002024	Malabsorption	811	CALR	ORPHA:131
HP:0002024	Malabsorption	3717	JAK2	ORPHA:131
HP:0002024	Malabsorption	2153	F5	ORPHA:131
HP:0002024	Malabsorption	5122	PCSK1	OMIM:600955
HP:0002024	Malabsorption	326	AIRE	OMIM:240300
HP:0002024	Malabsorption	1758	DMP1	ORPHA:289176
HP:0002024	Malabsorption	5167	ENPP1	ORPHA:289176
HP:0002024	Malabsorption	340024	SLC6A19	ORPHA:2116
HP:0002024	Malabsorption	57393	CLTRN	ORPHA:2116
HP:0002024	Malabsorption	50943	FOXP3	ORPHA:37042
HP:0002024	Malabsorption	11181	TREH	ORPHA:103909
HP:0002024	Malabsorption	6476	SI	OMIM:222900
HP:0002024	Malabsorption	4615	MYD88	ORPHA:33226
HP:0002024	Malabsorption	1604	CD55	OMIM:226300
HP:0002024	Malabsorption	80169	CTC1	ORPHA:1775
HP:0002024	Malabsorption	26277	TINF2	ORPHA:1775
HP:0002024	Malabsorption	55651	NHP2	ORPHA:1775
HP:0002024	Malabsorption	79650	USB1	ORPHA:1775
HP:0002024	Malabsorption	55135	WRAP53	ORPHA:1775
HP:0002024	Malabsorption	51750	RTEL1	ORPHA:1775
HP:0002024	Malabsorption	4869	NPM1	ORPHA:1775
HP:0002024	Malabsorption	7012	TERC	ORPHA:1775
HP:0002024	Malabsorption	55505	NOP10	ORPHA:1775
HP:0002024	Malabsorption	5073	PARN	ORPHA:1775
HP:0002024	Malabsorption	7015	TERT	ORPHA:1775
HP:0002024	Malabsorption	1736	DKC1	ORPHA:1775
HP:0002024	Malabsorption	7298	TYMS	ORPHA:1775
HP:0002024	Malabsorption	55315	SLC29A3	ORPHA:168569
HP:0002024	Malabsorption	1235	CCR6	ORPHA:220393
HP:0002024	Malabsorption	1490	CCN2	ORPHA:220393
HP:0002024	Malabsorption	3663	IRF5	ORPHA:220393
HP:0002024	Malabsorption	857	CAV1	ORPHA:220393
HP:0002024	Malabsorption	3123	HLA-DRB1	ORPHA:220393
HP:0002024	Malabsorption	1828	DSG1	OMIM:615508
HP:0002024	Malabsorption	55670	PEX26	ORPHA:912
HP:0002024	Malabsorption	5824	PEX19	ORPHA:912
HP:0002024	Malabsorption	5828	PEX2	ORPHA:912
HP:0002024	Malabsorption	8504	PEX3	ORPHA:912
HP:0002024	Malabsorption	8799	PEX11B	ORPHA:912
HP:0002024	Malabsorption	9409	PEX16	ORPHA:912
HP:0002024	Malabsorption	5190	PEX6	ORPHA:912
HP:0002024	Malabsorption	5830	PEX5	ORPHA:912
HP:0002024	Malabsorption	5189	PEX1	ORPHA:912
HP:0002024	Malabsorption	5193	PEX12	ORPHA:912
HP:0002024	Malabsorption	5194	PEX13	ORPHA:912
HP:0002024	Malabsorption	5195	PEX14	ORPHA:912
HP:0002024	Malabsorption	5192	PEX10	ORPHA:912
HP:0002024	Malabsorption	204	AK2	ORPHA:33355
HP:0002024	Malabsorption	6929	TCF3	ORPHA:33110
HP:0002024	Malabsorption	973	CD79A	ORPHA:33110
HP:0002024	Malabsorption	974	CD79B	ORPHA:33110
HP:0002024	Malabsorption	3543	IGLL1	ORPHA:33110
HP:0002024	Malabsorption	3507	IGHM	ORPHA:33110
HP:0002024	Malabsorption	29760	BLNK	ORPHA:33110
HP:0002024	Malabsorption	5295	PIK3R1	ORPHA:33110
HP:0002024	Malabsorption	56262	LRRC8A	ORPHA:33110
HP:0002024	Malabsorption	8085	KMT2D	OMIM:147920
HP:0002024	Malabsorption	7403	KDM6A	OMIM:147920
HP:0002024	Malabsorption	149233	IL23R	ORPHA:117
HP:0002024	Malabsorption	6775	STAT4	ORPHA:117
HP:0002024	Malabsorption	3586	IL10	ORPHA:117
HP:0002024	Malabsorption	1230	CCR1	ORPHA:117
HP:0002024	Malabsorption	355	FAS	ORPHA:117
HP:0002024	Malabsorption	3592	IL12A	ORPHA:117
HP:0002024	Malabsorption	101928376	IL12A-AS1	ORPHA:117
HP:0002024	Malabsorption	3106	HLA-B	ORPHA:117
HP:0002024	Malabsorption	7099	TLR4	ORPHA:117
HP:0002024	Malabsorption	3459	IFNGR1	ORPHA:117
HP:0002024	Malabsorption	720	C4A	ORPHA:117
HP:0002024	Malabsorption	337867	UBAC2	ORPHA:117
HP:0002024	Malabsorption	51752	ERAP1	ORPHA:117
HP:0002024	Malabsorption	8302	KLRC4	ORPHA:117
HP:0002024	Malabsorption	11005	SPINK5	ORPHA:634
HP:0002024	Malabsorption	3988	LIPA	ORPHA:75233
HP:0002024	Malabsorption	3988	LIPA	OMIM:278000
HP:0002024	Malabsorption	2212	FCGR2A	OMIM:219700
HP:0002024	Malabsorption	4351	MPI	OMIM:602579
HP:0002024	Malabsorption	9056	SLC7A7	ORPHA:470
HP:0002024	Malabsorption	51651	PTRH2	OMIM:616263
HP:0002024	Malabsorption	57003	CCDC47	OMIM:618268
HP:0002024	Malabsorption	3930	LBR	OMIM:613471
HP:0002024	Malabsorption	79827	CLMP	OMIM:615237
HP:0002024	Malabsorption	338	APOB	OMIM:615558
HP:0002024	Malabsorption	3117	HLA-DQA1	OMIM:212750
HP:0002024	Malabsorption	3119	HLA-DQB1	OMIM:212750
HP:0002024	Malabsorption	256297	PTF1A	OMIM:615935
HP:0002024	Malabsorption	11330	CTRC	OMIM:167800
HP:0002024	Malabsorption	6690	SPINK1	OMIM:167800
HP:0002024	Malabsorption	5645	PRSS2	OMIM:167800
HP:0002024	Malabsorption	5644	PRSS1	OMIM:167800
HP:0002024	Malabsorption	123264	SLC51B	OMIM:619481
HP:0002024	Malabsorption	8309	ACOX2	OMIM:617308
HP:0002024	Malabsorption	23729	SHPK	ORPHA:440713
HP:0002024	Malabsorption	84701	COX4I2	OMIM:612714
HP:0002024	Malabsorption	5373	PMM2	OMIM:212065
HP:0002024	Malabsorption	9414	TJP2	OMIM:607748
HP:0002024	Malabsorption	4547	MTTP	ORPHA:14
HP:0002024	Malabsorption	4547	MTTP	OMIM:200100
HP:0002024	Malabsorption	80270	HSD3B7	OMIM:607765
HP:0002024	Malabsorption	6555	SLC10A2	OMIM:613291
HP:0002024	Malabsorption	8647	ABCB11	OMIM:601847
HP:0002024	Malabsorption	5406	PNLIP	OMIM:614338
HP:0002024	Malabsorption	5205	ATP8B1	OMIM:211600
HP:0002024	Malabsorption	51128	SAR1B	ORPHA:71
HP:0002024	Malabsorption	23600	AMACR	OMIM:214950
HP:0002024	Malabsorption	199221	DZIP1L	ORPHA:731
HP:0002024	Malabsorption	5314	PKHD1	ORPHA:731
HP:0002024	Malabsorption	9420	CYP7B1	ORPHA:79302
HP:0002024	Malabsorption	134218	DNAJC21	ORPHA:811
HP:0002024	Malabsorption	79631	EFL1	ORPHA:811
HP:0002024	Malabsorption	51119	SBDS	ORPHA:811
HP:0002024	Malabsorption	6729	SRP54	ORPHA:811
HP:0002024	Malabsorption	6718	AKR1D1	ORPHA:79303
HP:0002024	Malabsorption	2475	MTOR	ORPHA:457485
HP:0002024	Malabsorption	5238	PGM3	ORPHA:443811
HP:0002024	Malabsorption	6304	SATB1	OMIM:619229
HP:0002024	Malabsorption	3938	LCT	OMIM:223000
HP:0002024	Malabsorption	4175	MCM6	OMIM:223100
HP:0002025	Anal stenosis	139285	AMER1	OMIM:300373
HP:0002025	Anal stenosis	3981	LIG4	ORPHA:235
HP:0002025	Anal stenosis	54888	NSUN2	ORPHA:235
HP:0002025	Anal stenosis	23556	PIGN	OMIM:614080
HP:0002025	Anal stenosis	23556	PIGN	ORPHA:280633
HP:0002025	Anal stenosis	341640	FREM2	ORPHA:2052
HP:0002025	Anal stenosis	80144	FRAS1	ORPHA:2052
HP:0002025	Anal stenosis	23426	GRIP1	ORPHA:2052
HP:0002025	Anal stenosis	6628	SNRPB	OMIM:117650
HP:0002025	Anal stenosis	6608	SMO	OMIM:601707
HP:0002025	Anal stenosis	4683	NBN	OMIM:251260
HP:0002025	Anal stenosis	4683	NBN	ORPHA:647
HP:0002025	Anal stenosis	23522	KAT6B	OMIM:606170
HP:0002025	Anal stenosis	6023	RMRP	OMIM:250250
HP:0002025	Anal stenosis	775	CACNA1C	OMIM:620029
HP:0002025	Anal stenosis	27315	PGAP2	OMIM:614207
HP:0002025	Anal stenosis	158326	FREM1	ORPHA:2717
HP:0002025	Anal stenosis	158326	FREM1	ORPHA:217266
HP:0002025	Anal stenosis	158326	FREM1	OMIM:248450
HP:0002025	Anal stenosis	84720	PIGO	OMIM:614749
HP:0002025	Anal stenosis	5308	PITX2	OMIM:180500
HP:0002025	Anal stenosis	5308	PITX2	ORPHA:782
HP:0002025	Anal stenosis	3110	MNX1	OMIM:176450
HP:0002025	Anal stenosis	57167	SALL4	OMIM:607323
HP:0002025	Anal stenosis	8626	TP63	OMIM:604292
HP:0002025	Anal stenosis	1009	CDH11	OMIM:211380
HP:0002025	Anal stenosis	2296	FOXC1	ORPHA:782
HP:0002025	Anal stenosis	6299	SALL1	OMIM:107480
HP:0002025	Anal stenosis	6926	TBX3	OMIM:181450
HP:0002025	Anal stenosis	8318	CDC45	OMIM:617063
HP:0002025	Anal stenosis	54101	RIPK4	OMIM:263650
HP:0002025	Anal stenosis	84667	HES7	OMIM:613686
HP:0002025	Anal stenosis	55612	FERMT1	OMIM:173650
HP:0002025	Anal stenosis	55636	CHD7	OMIM:214800
HP:0002025	Anal stenosis	79633	FAT4	ORPHA:314679
HP:0002025	Anal stenosis	8642	DCHS1	ORPHA:314679
HP:0002025	Anal stenosis	9968	MED12	OMIM:305450
HP:0002025	Anal stenosis	8085	KMT2D	OMIM:147920
HP:0002025	Anal stenosis	7403	KDM6A	OMIM:147920
HP:0002566	Intestinal malrotation	2294	FOXF1	OMIM:265380
HP:0002566	Intestinal malrotation	2294	FOXF1	ORPHA:210122
HP:0002566	Intestinal malrotation	4638	MYLK	OMIM:249210
HP:0002566	Intestinal malrotation	4638	MYLK	ORPHA:2241
HP:0002566	Intestinal malrotation	2138	EYA1	OMIM:113650
HP:0002566	Intestinal malrotation	6495	SIX1	OMIM:113650
HP:0002566	Intestinal malrotation	4750	NEK1	OMIM:263520
HP:0002566	Intestinal malrotation	2132	EXT2	OMIM:616682
HP:0002566	Intestinal malrotation	72	ACTG2	OMIM:619431
HP:0002566	Intestinal malrotation	72	ACTG2	ORPHA:2241
HP:0002566	Intestinal malrotation	79827	CLMP	OMIM:615237
HP:0002566	Intestinal malrotation	79827	CLMP	ORPHA:2301
HP:0002566	Intestinal malrotation	23556	PIGN	ORPHA:2059
HP:0002566	Intestinal malrotation	5885	RAD21	OMIM:614701
HP:0002566	Intestinal malrotation	5885	RAD21	ORPHA:199
HP:0002566	Intestinal malrotation	1131	CHRM3	ORPHA:2970
HP:0002566	Intestinal malrotation	4838	NODAL	OMIM:270100
HP:0002566	Intestinal malrotation	55209	SETD5	ORPHA:404440
HP:0002566	Intestinal malrotation	2627	GATA6	OMIM:600001
HP:0002566	Intestinal malrotation	2627	GATA6	ORPHA:2140
HP:0002566	Intestinal malrotation	2627	GATA6	ORPHA:2255
HP:0002566	Intestinal malrotation	1387	CREBBP	ORPHA:353281
HP:0002566	Intestinal malrotation	1387	CREBBP	ORPHA:353277
HP:0002566	Intestinal malrotation	80816	ASXL3	OMIM:615485
HP:0002566	Intestinal malrotation	89910	UBE3B	OMIM:244450
HP:0002566	Intestinal malrotation	8882	ZPR1	OMIM:619321
HP:0002566	Intestinal malrotation	341640	FREM2	OMIM:617666
HP:0002566	Intestinal malrotation	25790	CFAP45	OMIM:619608
HP:0002566	Intestinal malrotation	2033	EP300	ORPHA:353284
HP:0002566	Intestinal malrotation	2033	EP300	OMIM:613684
HP:0002566	Intestinal malrotation	5915	RARB	OMIM:615524
HP:0002566	Intestinal malrotation	51259	TMEM216	OMIM:603194
HP:0002566	Intestinal malrotation	55997	CFC1	OMIM:605376
HP:0002566	Intestinal malrotation	2263	FGFR2	ORPHA:93260
HP:0002566	Intestinal malrotation	2263	FGFR2	ORPHA:93259
HP:0002566	Intestinal malrotation	57492	ARID1B	OMIM:135900
HP:0002566	Intestinal malrotation	54880	BCOR	ORPHA:2712
HP:0002566	Intestinal malrotation	815	CAMK2A	OMIM:617798
HP:0002566	Intestinal malrotation	4853	NOTCH2	OMIM:102500
HP:0002566	Intestinal malrotation	4853	NOTCH2	ORPHA:955
HP:0002566	Intestinal malrotation	7994	KAT6A	ORPHA:457193
HP:0002566	Intestinal malrotation	7994	KAT6A	OMIM:616268
HP:0002566	Intestinal malrotation	1063	CENPF	OMIM:243605
HP:0002566	Intestinal malrotation	118856	MMP21	OMIM:616749
HP:0002566	Intestinal malrotation	1312	COMT	ORPHA:567
HP:0002566	Intestinal malrotation	221037	JMJD1C	ORPHA:567
HP:0002566	Intestinal malrotation	2812	GP1BB	ORPHA:567
HP:0002566	Intestinal malrotation	6239	RREB1	ORPHA:567
HP:0002566	Intestinal malrotation	6899	TBX1	ORPHA:567
HP:0002566	Intestinal malrotation	7290	HIRA	ORPHA:567
HP:0002566	Intestinal malrotation	9632	SEC24C	ORPHA:567
HP:0002566	Intestinal malrotation	7353	UFD1	ORPHA:567
HP:0002566	Intestinal malrotation	421	ARVCF	ORPHA:567
HP:0002566	Intestinal malrotation	8626	TP63	ORPHA:93930
HP:0002566	Intestinal malrotation	3670	ISL1	ORPHA:93930
HP:0002566	Intestinal malrotation	1717	DHCR7	OMIM:270400
HP:0002566	Intestinal malrotation	8091	HMGA2	ORPHA:94063
HP:0002566	Intestinal malrotation	23592	LEMD3	ORPHA:94063
HP:0002566	Intestinal malrotation	23414	ZFPM2	ORPHA:2140
HP:0002566	Intestinal malrotation	9361	LONP1	ORPHA:2140
HP:0002566	Intestinal malrotation	25	ABL1	OMIM:617602
HP:0002566	Intestinal malrotation	2316	FLNA	ORPHA:2301
HP:0002566	Intestinal malrotation	2316	FLNA	OMIM:300048
HP:0002566	Intestinal malrotation	4036	LRP2	ORPHA:2143
HP:0002566	Intestinal malrotation	4036	LRP2	OMIM:222448
HP:0002566	Intestinal malrotation	2065	ERBB3	OMIM:243180
HP:0002566	Intestinal malrotation	2313	FLI1	ORPHA:2308
HP:0002566	Intestinal malrotation	3192	HNRNPU	ORPHA:238769
HP:0002566	Intestinal malrotation	23476	BRD4	ORPHA:199
HP:0002566	Intestinal malrotation	9126	SMC3	ORPHA:199
HP:0002566	Intestinal malrotation	8243	SMC1A	ORPHA:199
HP:0002566	Intestinal malrotation	55869	HDAC8	ORPHA:199
HP:0002566	Intestinal malrotation	4629	MYH11	OMIM:619350
HP:0002566	Intestinal malrotation	4629	MYH11	ORPHA:2241
HP:0002566	Intestinal malrotation	64840	PORCN	OMIM:305600
HP:0002566	Intestinal malrotation	79659	DYNC2H1	OMIM:613091
HP:0002566	Intestinal malrotation	57217	TTC7A	OMIM:243150
HP:0002566	Intestinal malrotation	57217	TTC7A	ORPHA:436252
HP:0002566	Intestinal malrotation	6608	SMO	OMIM:601707
HP:0002566	Intestinal malrotation	6608	SMO	ORPHA:1553
HP:0002566	Intestinal malrotation	10526	IPO8	OMIM:619472
HP:0002566	Intestinal malrotation	57167	SALL4	OMIM:147750
HP:0002566	Intestinal malrotation	222546	RFX6	OMIM:615710
HP:0002566	Intestinal malrotation	10056	FARSB	OMIM:613658
HP:0002566	Intestinal malrotation	10653	SPINT2	OMIM:270420
HP:0002566	Intestinal malrotation	1718	DHCR24	ORPHA:35107
HP:0002566	Intestinal malrotation	27031	NPHP3	OMIM:208540
HP:0002566	Intestinal malrotation	27031	NPHP3	ORPHA:3032
HP:0002566	Intestinal malrotation	28952	CCDC22	OMIM:300963
HP:0002566	Intestinal malrotation	28952	CCDC22	ORPHA:7
HP:0002566	Intestinal malrotation	112752	IFT43	OMIM:617866
HP:0002566	Intestinal malrotation	9772	TMEM94	OMIM:618316
HP:0002566	Intestinal malrotation	25802	LMOD1	ORPHA:2241
HP:0002566	Intestinal malrotation	139285	AMER1	OMIM:300373
HP:0002566	Intestinal malrotation	745	MYRF	OMIM:618280
HP:0002566	Intestinal malrotation	5297	PI4KA	ORPHA:436252
HP:0002566	Intestinal malrotation	4087	SMAD2	OMIM:619657
HP:0002566	Intestinal malrotation	59	ACTA2	OMIM:613834
HP:0002566	Intestinal malrotation	79087	ALG12	ORPHA:79324
HP:0002566	Intestinal malrotation	25981	DNAH1	ORPHA:244
HP:0002566	Intestinal malrotation	115948	ODAD3	ORPHA:244
HP:0002566	Intestinal malrotation	54768	HYDIN	ORPHA:244
HP:0002566	Intestinal malrotation	352909	DNAAF3	ORPHA:244
HP:0002566	Intestinal malrotation	27148	STK36	ORPHA:244
HP:0002566	Intestinal malrotation	51314	NME8	ORPHA:244
HP:0002566	Intestinal malrotation	92749	DRC1	ORPHA:244
HP:0002566	Intestinal malrotation	54970	TTC12	ORPHA:244
HP:0002566	Intestinal malrotation	152110	NEK10	ORPHA:244
HP:0002566	Intestinal malrotation	8481	OFD1	ORPHA:244
HP:0002566	Intestinal malrotation	2302	FOXJ1	ORPHA:244
HP:0002566	Intestinal malrotation	221421	RSPH9	ORPHA:244
HP:0002566	Intestinal malrotation	85478	CCDC65	ORPHA:244
HP:0002566	Intestinal malrotation	55036	CCDC40	ORPHA:244
HP:0002566	Intestinal malrotation	51364	ZMYND10	ORPHA:244
HP:0002566	Intestinal malrotation	64446	DNAI2	ORPHA:244
HP:0002566	Intestinal malrotation	6674	SPAG1	ORPHA:244
HP:0002566	Intestinal malrotation	83544	DNAL1	ORPHA:244
HP:0002566	Intestinal malrotation	89765	RSPH1	ORPHA:244
HP:0002566	Intestinal malrotation	83538	ODAD4	ORPHA:244
HP:0002566	Intestinal malrotation	200373	CFAP221	ORPHA:244
HP:0002566	Intestinal malrotation	374407	DNAJB13	ORPHA:244
HP:0002566	Intestinal malrotation	55172	DNAAF2	ORPHA:244
HP:0002566	Intestinal malrotation	161582	DNAAF4	ORPHA:244
HP:0002566	Intestinal malrotation	2622	GAS8	ORPHA:244
HP:0002566	Intestinal malrotation	23639	DNAAF11	ORPHA:244
HP:0002566	Intestinal malrotation	27019	DNAI1	ORPHA:244
HP:0002566	Intestinal malrotation	345895	RSPH4A	ORPHA:244
HP:0002566	Intestinal malrotation	54919	DNAAF5	ORPHA:244
HP:0002566	Intestinal malrotation	6103	RPGR	ORPHA:244
HP:0002566	Intestinal malrotation	388389	CCDC103	ORPHA:244
HP:0002566	Intestinal malrotation	93233	ODAD1	ORPHA:244
HP:0002566	Intestinal malrotation	55130	ODAD2	ORPHA:244
HP:0002566	Intestinal malrotation	1767	DNAH5	ORPHA:244
HP:0002566	Intestinal malrotation	83861	RSPH3	ORPHA:244
HP:0002566	Intestinal malrotation	345643	MCIDAS	ORPHA:244
HP:0002566	Intestinal malrotation	56683	CFAP298	ORPHA:244
HP:0002566	Intestinal malrotation	79925	SPEF2	ORPHA:244
HP:0002566	Intestinal malrotation	10309	CCNO	ORPHA:244
HP:0002566	Intestinal malrotation	115399	LRRC56	ORPHA:244
HP:0002566	Intestinal malrotation	139212	DNAAF6	ORPHA:244
HP:0002566	Intestinal malrotation	123872	DNAAF1	ORPHA:244
HP:0002566	Intestinal malrotation	85016	CFAP300	ORPHA:244
HP:0002566	Intestinal malrotation	339829	CCDC39	ORPHA:244
HP:0002566	Intestinal malrotation	8701	DNAH11	ORPHA:244
HP:0002566	Intestinal malrotation	1770	DNAH9	ORPHA:244
HP:0002566	Intestinal malrotation	246176	GAS2L2	ORPHA:244
HP:0002566	Intestinal malrotation	9897	WASHC5	ORPHA:7
HP:0002566	Intestinal malrotation	171023	ASXL1	OMIM:605039
HP:0002566	Intestinal malrotation	54903	MKS1	OMIM:249000
HP:0002566	Intestinal malrotation	2719	GPC3	OMIM:312870
HP:0002566	Intestinal malrotation	2239	GPC4	OMIM:312870
HP:0002566	Intestinal malrotation	2201	FBN2	ORPHA:115
HP:0002566	Intestinal malrotation	8085	KMT2D	OMIM:147920
HP:0002566	Intestinal malrotation	7403	KDM6A	OMIM:147920
HP:0002566	Intestinal malrotation	7020	TFAP2A	OMIM:113620
HP:0002566	Intestinal malrotation	9968	MED12	ORPHA:93932
HP:0002566	Intestinal malrotation	25836	NIPBL	OMIM:122470
HP:0002566	Intestinal malrotation	2317	FLNB	ORPHA:1190
HP:0002566	Intestinal malrotation	113189	CHST14	ORPHA:2953
HP:0002566	Intestinal malrotation	29940	DSE	ORPHA:2953
HP:0002566	Intestinal malrotation	23522	KAT6B	OMIM:606170
HP:0002566	Intestinal malrotation	54361	WNT4	ORPHA:139466
HP:0002566	Intestinal malrotation	53834	FGFRL1	OMIM:194190
HP:0002566	Intestinal malrotation	1487	CTBP1	OMIM:194190
HP:0002566	Intestinal malrotation	3954	LETM1	OMIM:194190
HP:0002566	Intestinal malrotation	7468	NSD2	OMIM:194190
HP:0002566	Intestinal malrotation	10815	CPLX1	OMIM:194190
HP:0002566	Intestinal malrotation	6558	SLC12A2	OMIM:619080
HP:0002566	Intestinal malrotation	1723	DHODH	OMIM:263750
HP:0002027	Abdominal pain	26191	PTPN22	ORPHA:397
HP:0002027	Abdominal pain	26191	PTPN22	ORPHA:900
HP:0002027	Abdominal pain	3106	HLA-B	ORPHA:397
HP:0002027	Abdominal pain	3106	HLA-B	ORPHA:117
HP:0002027	Abdominal pain	3106	HLA-B	ORPHA:29207
HP:0002027	Abdominal pain	3106	HLA-B	ORPHA:36426
HP:0002027	Abdominal pain	3123	HLA-DRB1	ORPHA:397
HP:0002027	Abdominal pain	3123	HLA-DRB1	ORPHA:85414
HP:0002027	Abdominal pain	8974	P4HA2	ORPHA:397
HP:0002027	Abdominal pain	90268	OTULIN	OMIM:617099
HP:0002027	Abdominal pain	144811	LACC1	ORPHA:85414
HP:0002027	Abdominal pain	4282	MIF	ORPHA:85414
HP:0002027	Abdominal pain	3569	IL6	ORPHA:85414
HP:0002027	Abdominal pain	3569	IL6	OMIM:266600
HP:0002027	Abdominal pain	30061	SLC40A1	ORPHA:139491
HP:0002027	Abdominal pain	229	ALDOB	OMIM:229600
HP:0002027	Abdominal pain	229	ALDOB	ORPHA:469
HP:0002027	Abdominal pain	8573	CASK	OMIM:300908
HP:0002027	Abdominal pain	2539	G6PD	OMIM:300908
HP:0002027	Abdominal pain	4598	MVK	OMIM:260920
HP:0002027	Abdominal pain	4598	MVK	ORPHA:343
HP:0002027	Abdominal pain	5009	OTC	OMIM:311250
HP:0002027	Abdominal pain	26873	OPLAH	OMIM:260005
HP:0002027	Abdominal pain	3815	KIT	ORPHA:98849
HP:0002027	Abdominal pain	3815	KIT	ORPHA:79455
HP:0002027	Abdominal pain	23417	MLYCD	OMIM:248360
HP:0002027	Abdominal pain	324	APC	ORPHA:99818
HP:0002027	Abdominal pain	324	APC	OMIM:619182
HP:0002027	Abdominal pain	324	APC	ORPHA:873
HP:0002027	Abdominal pain	2038	EPB42	ORPHA:822
HP:0002027	Abdominal pain	6521	SLC4A1	ORPHA:822
HP:0002027	Abdominal pain	6521	SLC4A1	ORPHA:3202
HP:0002027	Abdominal pain	6710	SPTB	ORPHA:822
HP:0002027	Abdominal pain	6710	SPTB	ORPHA:288
HP:0002027	Abdominal pain	6708	SPTA1	ORPHA:822
HP:0002027	Abdominal pain	6708	SPTA1	ORPHA:288
HP:0002027	Abdominal pain	286	ANK1	ORPHA:822
HP:0002027	Abdominal pain	4072	EPCAM	ORPHA:144
HP:0002027	Abdominal pain	4292	MLH1	ORPHA:144
HP:0002027	Abdominal pain	5395	PMS2	ORPHA:144
HP:0002027	Abdominal pain	27030	MLH3	ORPHA:144
HP:0002027	Abdominal pain	22909	FAN1	ORPHA:144
HP:0002027	Abdominal pain	7048	TGFBR2	ORPHA:144
HP:0002027	Abdominal pain	3845	KRAS	ORPHA:144
HP:0002027	Abdominal pain	3845	KRAS	ORPHA:1333
HP:0002027	Abdominal pain	5290	PIK3CA	ORPHA:144
HP:0002027	Abdominal pain	2956	MSH6	ORPHA:144
HP:0002027	Abdominal pain	5378	PMS1	ORPHA:144
HP:0002027	Abdominal pain	4436	MSH2	ORPHA:144
HP:0002027	Abdominal pain	215	ABCD1	ORPHA:388
HP:0002027	Abdominal pain	2668	GDNF	ORPHA:388
HP:0002027	Abdominal pain	6608	SMO	ORPHA:388
HP:0002027	Abdominal pain	1889	ECE1	ORPHA:388
HP:0002027	Abdominal pain	6720	SREBF1	ORPHA:388
HP:0002027	Abdominal pain	1908	EDN3	ORPHA:388
HP:0002027	Abdominal pain	1908	EDN3	ORPHA:897
HP:0002027	Abdominal pain	223117	SEMA3D	ORPHA:388
HP:0002027	Abdominal pain	538	ATP7A	ORPHA:388
HP:0002027	Abdominal pain	1910	EDNRB	ORPHA:388
HP:0002027	Abdominal pain	1910	EDNRB	ORPHA:897
HP:0002027	Abdominal pain	10512	SEMA3C	ORPHA:388
HP:0002027	Abdominal pain	2064	ERBB2	ORPHA:388
HP:0002027	Abdominal pain	4902	NRTN	ORPHA:388
HP:0002027	Abdominal pain	4233	MET	ORPHA:33402
HP:0002027	Abdominal pain	1499	CTNNB1	ORPHA:33402
HP:0002027	Abdominal pain	1499	CTNNB1	ORPHA:1501
HP:0002027	Abdominal pain	1499	CTNNB1	ORPHA:873
HP:0002027	Abdominal pain	2130	EWSR1	ORPHA:83469
HP:0002027	Abdominal pain	7490	WT1	ORPHA:83469
HP:0002027	Abdominal pain	7490	WT1	ORPHA:654
HP:0002027	Abdominal pain	7490	WT1	ORPHA:656
HP:0002027	Abdominal pain	64218	SEMA4A	ORPHA:440437
HP:0002027	Abdominal pain	657	BMPR1A	ORPHA:440437
HP:0002027	Abdominal pain	657	BMPR1A	OMIM:174900
HP:0002027	Abdominal pain	657	BMPR1A	ORPHA:79076
HP:0002027	Abdominal pain	6224	RPS20	ORPHA:440437
HP:0002027	Abdominal pain	672	BRCA1	ORPHA:168829
HP:0002027	Abdominal pain	672	BRCA1	ORPHA:70567
HP:0002027	Abdominal pain	672	BRCA1	ORPHA:1333
HP:0002027	Abdominal pain	10686	CLDN16	OMIM:248250
HP:0002027	Abdominal pain	5498	PPOX	OMIM:176200
HP:0002027	Abdominal pain	5498	PPOX	ORPHA:79473
HP:0002027	Abdominal pain	3077	HFE	OMIM:176200
HP:0002027	Abdominal pain	3077	HFE	ORPHA:465508
HP:0002027	Abdominal pain	3077	HFE	OMIM:235200
HP:0002027	Abdominal pain	3980	LIG3	ORPHA:298
HP:0002027	Abdominal pain	50484	RRM2B	ORPHA:298
HP:0002027	Abdominal pain	2642	GCGR	OMIM:619290
HP:0002027	Abdominal pain	2642	GCGR	ORPHA:438274
HP:0002027	Abdominal pain	3043	HBB	OMIM:603903
HP:0002027	Abdominal pain	3043	HBB	ORPHA:251380
HP:0002027	Abdominal pain	3043	HBB	ORPHA:90039
HP:0002027	Abdominal pain	2859	GPR35	ORPHA:171
HP:0002027	Abdominal pain	10507	SEMA4D	ORPHA:171
HP:0002027	Abdominal pain	4485	MST1	ORPHA:171
HP:0002027	Abdominal pain	6925	TCF4	ORPHA:171
HP:0002027	Abdominal pain	4089	SMAD4	OMIM:174900
HP:0002027	Abdominal pain	4089	SMAD4	ORPHA:1333
HP:0002027	Abdominal pain	114548	NLRP3	ORPHA:47045
HP:0002027	Abdominal pain	114548	NLRP3	ORPHA:575
HP:0002027	Abdominal pain	4352	MPL	ORPHA:729
HP:0002027	Abdominal pain	3717	JAK2	ORPHA:729
HP:0002027	Abdominal pain	3717	JAK2	ORPHA:131
HP:0002027	Abdominal pain	7132	TNFRSF1A	OMIM:142680
HP:0002027	Abdominal pain	7132	TNFRSF1A	ORPHA:32960
HP:0002027	Abdominal pain	6794	STK11	OMIM:175200
HP:0002027	Abdominal pain	6794	STK11	ORPHA:2869
HP:0002027	Abdominal pain	2492	FSHR	OMIM:608115
HP:0002027	Abdominal pain	2492	FSHR	ORPHA:64739
HP:0002027	Abdominal pain	3117	HLA-DQA1	OMIM:212750
HP:0002027	Abdominal pain	3119	HLA-DQB1	OMIM:212750
HP:0002027	Abdominal pain	9570	GOSR2	OMIM:620166
HP:0002027	Abdominal pain	84133	ZNRF3	ORPHA:1501
HP:0002027	Abdominal pain	7157	TP53	ORPHA:1501
HP:0002027	Abdominal pain	7157	TP53	ORPHA:1333
HP:0002027	Abdominal pain	5573	PRKAR1A	ORPHA:1501
HP:0002027	Abdominal pain	5573	PRKAR1A	ORPHA:520
HP:0002027	Abdominal pain	1029	CDKN2A	ORPHA:1501
HP:0002027	Abdominal pain	1029	CDKN2A	ORPHA:1333
HP:0002027	Abdominal pain	7015	TERT	ORPHA:1501
HP:0002027	Abdominal pain	2035	EPB41	ORPHA:288
HP:0002027	Abdominal pain	2995	GYPC	ORPHA:288
HP:0002027	Abdominal pain	64127	NOD2	OMIM:617321
HP:0002027	Abdominal pain	64127	NOD2	OMIM:266600
HP:0002027	Abdominal pain	5728	PTEN	ORPHA:79076
HP:0002027	Abdominal pain	2984	GUCY2C	OMIM:614616
HP:0002027	Abdominal pain	1244	ABCC2	ORPHA:234
HP:0002027	Abdominal pain	330	BIRC3	ORPHA:52417
HP:0002027	Abdominal pain	10892	MALT1	ORPHA:52417
HP:0002027	Abdominal pain	27086	FOXP1	ORPHA:52417
HP:0002027	Abdominal pain	3492	IGH	ORPHA:52417
HP:0002027	Abdominal pain	8915	BCL10	ORPHA:52417
HP:0002027	Abdominal pain	22900	CARD8	OMIM:619079
HP:0002027	Abdominal pain	51604	PIGT	OMIM:615399
HP:0002027	Abdominal pain	2321	FLT1	ORPHA:275555
HP:0002027	Abdominal pain	219736	STOX1	ORPHA:275555
HP:0002027	Abdominal pain	10699	CORIN	ORPHA:275555
HP:0002027	Abdominal pain	6804	STX1A	ORPHA:904
HP:0002027	Abdominal pain	7461	CLIP2	ORPHA:904
HP:0002027	Abdominal pain	84277	DNAJC30	ORPHA:904
HP:0002027	Abdominal pain	8468	FKBP6	ORPHA:904
HP:0002027	Abdominal pain	5982	RFC2	ORPHA:904
HP:0002027	Abdominal pain	2969	GTF2I	ORPHA:904
HP:0002027	Abdominal pain	3984	LIMK1	ORPHA:904
HP:0002027	Abdominal pain	9569	GTF2IRD1	ORPHA:904
HP:0002027	Abdominal pain	155382	VPS37D	ORPHA:904
HP:0002027	Abdominal pain	155368	METTL27	ORPHA:904
HP:0002027	Abdominal pain	114049	BUD23	ORPHA:904
HP:0002027	Abdominal pain	7458	EIF4H	ORPHA:904
HP:0002027	Abdominal pain	84163	GTF2IRD2	ORPHA:904
HP:0002027	Abdominal pain	9275	BCL7B	ORPHA:904
HP:0002027	Abdominal pain	26608	TBL2	ORPHA:904
HP:0002027	Abdominal pain	653361	NCF1	ORPHA:904
HP:0002027	Abdominal pain	135886	TMEM270	ORPHA:904
HP:0002027	Abdominal pain	51085	MLXIPL	ORPHA:904
HP:0002027	Abdominal pain	9031	BAZ1B	ORPHA:904
HP:0002027	Abdominal pain	2006	ELN	ORPHA:904
HP:0002027	Abdominal pain	1493	CTLA4	ORPHA:900
HP:0002027	Abdominal pain	3115	HLA-DPB1	ORPHA:900
HP:0002027	Abdominal pain	5657	PRTN3	ORPHA:900
HP:0002027	Abdominal pain	3113	HLA-DPA1	ORPHA:900
HP:0002027	Abdominal pain	8659	ALDH4A1	ORPHA:79101
HP:0002027	Abdominal pain	84992	PIGY	OMIM:616809
HP:0002027	Abdominal pain	1080	CFTR	OMIM:167800
HP:0002027	Abdominal pain	1080	CFTR	ORPHA:676
HP:0002027	Abdominal pain	11330	CTRC	OMIM:167800
HP:0002027	Abdominal pain	11330	CTRC	ORPHA:676
HP:0002027	Abdominal pain	6690	SPINK1	OMIM:167800
HP:0002027	Abdominal pain	6690	SPINK1	ORPHA:676
HP:0002027	Abdominal pain	6690	SPINK1	OMIM:608189
HP:0002027	Abdominal pain	5645	PRSS2	OMIM:167800
HP:0002027	Abdominal pain	5645	PRSS2	ORPHA:676
HP:0002027	Abdominal pain	5644	PRSS1	OMIM:167800
HP:0002027	Abdominal pain	5644	PRSS1	ORPHA:676
HP:0002027	Abdominal pain	5205	ATP8B1	ORPHA:69665
HP:0002027	Abdominal pain	8647	ABCB11	ORPHA:69665
HP:0002027	Abdominal pain	9971	NR1H4	ORPHA:69665
HP:0002027	Abdominal pain	6288	SAA1	ORPHA:85445
HP:0002027	Abdominal pain	11231	SEC63	ORPHA:2924
HP:0002027	Abdominal pain	5589	PRKCSH	ORPHA:2924
HP:0002027	Abdominal pain	4041	LRP5	ORPHA:2924
HP:0002027	Abdominal pain	2521	FUS	ORPHA:99967
HP:0002027	Abdominal pain	1649	DDIT3	ORPHA:99967
HP:0002027	Abdominal pain	3662	IRF4	ORPHA:3452
HP:0002027	Abdominal pain	19	ABCA1	ORPHA:31150
HP:0002027	Abdominal pain	7234	TRU-TCA1-1	OMIM:620198
HP:0002027	Abdominal pain	9968	MED12	OMIM:301068
HP:0002027	Abdominal pain	811	CALR	ORPHA:131
HP:0002027	Abdominal pain	2153	F5	ORPHA:131
HP:0002027	Abdominal pain	2717	GLA	OMIM:301500
HP:0002027	Abdominal pain	2717	GLA	ORPHA:324
HP:0002027	Abdominal pain	5885	RAD21	OMIM:611376
HP:0002027	Abdominal pain	654	BMP6	ORPHA:465508
HP:0002027	Abdominal pain	11181	TREH	ORPHA:103909
HP:0002027	Abdominal pain	11181	TREH	OMIM:612119
HP:0002027	Abdominal pain	9780	PIEZO1	ORPHA:3202
HP:0002027	Abdominal pain	3783	KCNN4	ORPHA:3202
HP:0002027	Abdominal pain	710	SERPING1	OMIM:106100
HP:0002027	Abdominal pain	710	SERPING1	ORPHA:100050
HP:0002027	Abdominal pain	64241	ABCG8	OMIM:210250
HP:0002027	Abdominal pain	10312	TCIRG1	ORPHA:486
HP:0002027	Abdominal pain	1991	ELANE	ORPHA:486
HP:0002027	Abdominal pain	1991	ELANE	ORPHA:2686
HP:0002027	Abdominal pain	2672	GFI1	ORPHA:486
HP:0002027	Abdominal pain	6729	SRP54	ORPHA:486
HP:0002027	Abdominal pain	81570	CLPB	ORPHA:486
HP:0002027	Abdominal pain	2000	ELF4	OMIM:301074
HP:0002027	Abdominal pain	165918	RNF168	ORPHA:420741
HP:0002027	Abdominal pain	1188	CLCNKB	ORPHA:358
HP:0002027	Abdominal pain	6559	SLC12A3	ORPHA:358
HP:0002027	Abdominal pain	6559	SLC12A3	OMIM:263800
HP:0002027	Abdominal pain	4594	MMUT	ORPHA:79312
HP:0002027	Abdominal pain	2629	GBA1	ORPHA:77259
HP:0002027	Abdominal pain	950	SCARB2	ORPHA:77259
HP:0002027	Abdominal pain	149233	IL23R	ORPHA:117
HP:0002027	Abdominal pain	6775	STAT4	ORPHA:117
HP:0002027	Abdominal pain	6775	STAT4	ORPHA:93552
HP:0002027	Abdominal pain	3586	IL10	ORPHA:117
HP:0002027	Abdominal pain	1230	CCR1	ORPHA:117
HP:0002027	Abdominal pain	355	FAS	ORPHA:117
HP:0002027	Abdominal pain	3592	IL12A	ORPHA:117
HP:0002027	Abdominal pain	101928376	IL12A-AS1	ORPHA:117
HP:0002027	Abdominal pain	7099	TLR4	ORPHA:117
HP:0002027	Abdominal pain	3459	IFNGR1	ORPHA:117
HP:0002027	Abdominal pain	720	C4A	ORPHA:117
HP:0002027	Abdominal pain	337867	UBAC2	ORPHA:117
HP:0002027	Abdominal pain	51752	ERAP1	ORPHA:117
HP:0002027	Abdominal pain	8302	KLRC4	ORPHA:117
HP:0002027	Abdominal pain	4175	MCM6	OMIM:223100
HP:0002027	Abdominal pain	2767	GNA11	ORPHA:428
HP:0002027	Abdominal pain	846	CASR	ORPHA:428
HP:0002027	Abdominal pain	846	CASR	ORPHA:676
HP:0002027	Abdominal pain	6696	SPP1	ORPHA:93552
HP:0002027	Abdominal pain	3654	IRAK1	ORPHA:93552
HP:0002027	Abdominal pain	2057	EPOR	ORPHA:90042
HP:0002027	Abdominal pain	1776	DNASE1L3	ORPHA:36412
HP:0002027	Abdominal pain	53335	BCL11A	ORPHA:251380
HP:0002027	Abdominal pain	10661	KLF1	ORPHA:251380
HP:0002027	Abdominal pain	3047	HBG1	ORPHA:251380
HP:0002027	Abdominal pain	3048	HBG2	ORPHA:251380
HP:0002027	Abdominal pain	2258	FGF13	OMIM:301058
HP:0002027	Abdominal pain	4609	MYC	ORPHA:543
HP:0002027	Abdominal pain	675	BRCA2	ORPHA:70567
HP:0002027	Abdominal pain	675	BRCA2	ORPHA:654
HP:0002027	Abdominal pain	675	BRCA2	ORPHA:1333
HP:0002027	Abdominal pain	5774	PTPN3	ORPHA:70567
HP:0002027	Abdominal pain	7248	TSC1	ORPHA:538
HP:0002027	Abdominal pain	7249	TSC2	ORPHA:538
HP:0002027	Abdominal pain	4286	MITF	ORPHA:897
HP:0002027	Abdominal pain	6663	SOX10	ORPHA:897
HP:0002027	Abdominal pain	6663	SOX10	ORPHA:163746
HP:0002027	Abdominal pain	5978	REST	ORPHA:654
HP:0002027	Abdominal pain	129563	DIS3L2	ORPHA:654
HP:0002027	Abdominal pain	9319	TRIP13	ORPHA:654
HP:0002027	Abdominal pain	10155	TRIM28	ORPHA:654
HP:0002027	Abdominal pain	11281	POU6F2	ORPHA:654
HP:0002027	Abdominal pain	2719	GPC3	ORPHA:654
HP:0002027	Abdominal pain	283120	H19	ORPHA:654
HP:0002027	Abdominal pain	4868	NPHS1	ORPHA:656
HP:0002027	Abdominal pain	23607	CD2AP	ORPHA:656
HP:0002027	Abdominal pain	9688	NUP93	ORPHA:656
HP:0002027	Abdominal pain	4643	MYO1E	ORPHA:656
HP:0002027	Abdominal pain	64423	INF2	ORPHA:656
HP:0002027	Abdominal pain	26130	GAPVD1	ORPHA:656
HP:0002027	Abdominal pain	57122	NUP107	ORPHA:656
HP:0002027	Abdominal pain	51479	ANKFY1	ORPHA:656
HP:0002027	Abdominal pain	54443	ANLN	ORPHA:656
HP:0002027	Abdominal pain	5800	PTPRO	ORPHA:656
HP:0002027	Abdominal pain	286204	CRB2	ORPHA:656
HP:0002027	Abdominal pain	23165	NUP205	ORPHA:656
HP:0002027	Abdominal pain	2013	EMP2	ORPHA:656
HP:0002027	Abdominal pain	79023	NUP37	ORPHA:656
HP:0002027	Abdominal pain	51196	PLCE1	ORPHA:656
HP:0002027	Abdominal pain	79902	NUP85	ORPHA:656
HP:0002027	Abdominal pain	1285	COL4A3	ORPHA:656
HP:0002027	Abdominal pain	396	ARHGDIA	ORPHA:656
HP:0002027	Abdominal pain	79934	COQ8B	ORPHA:656
HP:0002027	Abdominal pain	23279	NUP160	ORPHA:656
HP:0002027	Abdominal pain	9863	MAGI2	ORPHA:656
HP:0002027	Abdominal pain	81	ACTN4	ORPHA:656
HP:0002027	Abdominal pain	7225	TRPC6	ORPHA:656
HP:0002027	Abdominal pain	8542	APOL1	ORPHA:656
HP:0002027	Abdominal pain	54885	TBC1D8B	ORPHA:656
HP:0002027	Abdominal pain	7827	NPHS2	ORPHA:656
HP:0002027	Abdominal pain	83478	ARHGAP24	ORPHA:656
HP:0002027	Abdominal pain	23500	DAAM2	ORPHA:656
HP:0002027	Abdominal pain	5076	PAX2	ORPHA:656
HP:0002027	Abdominal pain	55746	NUP133	ORPHA:656
HP:0002027	Abdominal pain	10320	IKZF1	ORPHA:36426
HP:0002027	Abdominal pain	10616	RBCK1	OMIM:615895
HP:0002027	Abdominal pain	1760	DMPK	ORPHA:589821
HP:0002027	Abdominal pain	285282	RABL3	ORPHA:1333
HP:0002027	Abdominal pain	79728	PALB2	ORPHA:1333
HP:0002027	Abdominal pain	23022	PALLD	ORPHA:1333
HP:0002027	Abdominal pain	1357	CPA1	ORPHA:676
HP:0002027	Abdominal pain	650	BMP2	OMIM:235200
HP:0002027	Abdominal pain	54795	TRPM4	ORPHA:871
HP:0002027	Abdominal pain	1482	NKX2-5	ORPHA:871
HP:0002027	Abdominal pain	6324	SCN1B	ORPHA:871
HP:0002027	Abdominal pain	6331	SCN5A	ORPHA:871
HP:0002027	Abdominal pain	1053	CEBPE	OMIM:260570
HP:0002027	Abdominal pain	64840	PORCN	ORPHA:2092
HP:0002027	Abdominal pain	6711	SPTBN1	OMIM:619475
HP:0002027	Abdominal pain	3257	HPS1	OMIM:203300
HP:0002027	Abdominal pain	1056	CEL	OMIM:609812
HP:0002027	Abdominal pain	64711	HS3ST6	OMIM:619367
HP:0002027	Abdominal pain	10585	POMT1	ORPHA:86812
HP:0002027	Abdominal pain	51816	ADA2	OMIM:615688
HP:0002027	Abdominal pain	3075	CFH	ORPHA:244242
HP:0002027	Abdominal pain	3426	CFI	ORPHA:244242
HP:0002027	Abdominal pain	4179	CD46	ORPHA:244242
HP:0002027	Abdominal pain	101101692	HELLPAR	ORPHA:244242
HP:0002027	Abdominal pain	91662	NLRP12	OMIM:611762
HP:0002027	Abdominal pain	5294	PIK3CG	OMIM:619802
HP:0002027	Abdominal pain	3145	HMBS	OMIM:176000
HP:0002027	Abdominal pain	3145	HMBS	ORPHA:79276
HP:0002027	Abdominal pain	595	CCND1	ORPHA:892
HP:0002027	Abdominal pain	4221	MEN1	ORPHA:652
HP:0002027	Abdominal pain	1026	CDKN1A	ORPHA:652
HP:0002027	Abdominal pain	1030	CDKN2B	ORPHA:652
HP:0002027	Abdominal pain	1031	CDKN2C	ORPHA:652
HP:0002027	Abdominal pain	55898	UNC45A	OMIM:619377
HP:0002027	Abdominal pain	72	ACTG2	OMIM:155310
HP:0002027	Abdominal pain	1371	CPOX	OMIM:121300
HP:0002027	Abdominal pain	1371	CPOX	ORPHA:79273
HP:0002027	Abdominal pain	6850	SYK	OMIM:619381
HP:0002027	Abdominal pain	6774	STAT3	ORPHA:520
HP:0002027	Abdominal pain	5371	PML	ORPHA:520
HP:0002027	Abdominal pain	5914	RARA	ORPHA:520
HP:0002027	Abdominal pain	359948	IRF2BP2	ORPHA:520
HP:0002027	Abdominal pain	81608	FIP1L1	ORPHA:520
HP:0002027	Abdominal pain	4869	NPM1	ORPHA:520
HP:0002027	Abdominal pain	54880	BCOR	ORPHA:520
HP:0002027	Abdominal pain	64859	NABP1	ORPHA:520
HP:0002027	Abdominal pain	6777	STAT5B	ORPHA:520
HP:0002027	Abdominal pain	4926	NUMA1	ORPHA:520
HP:0002027	Abdominal pain	7704	ZBTB16	ORPHA:520
HP:0002027	Abdominal pain	79718	TBL1XR1	ORPHA:520
HP:0002027	Abdominal pain	1604	CD55	OMIM:226300
HP:0002027	Abdominal pain	8737	RIPK1	OMIM:618852
HP:0002027	Abdominal pain	115286	SLC25A26	OMIM:616794
HP:0002027	Abdominal pain	4689	NCF4	OMIM:613960
HP:0002027	Abdominal pain	7388	UQCRH	OMIM:620137
HP:0002027	Abdominal pain	2693	GHSR	ORPHA:314811
HP:0002027	Abdominal pain	87178	PNPT1	ORPHA:101111
HP:0002027	Abdominal pain	79577	CDC73	ORPHA:99880
HP:0002027	Abdominal pain	79577	CDC73	ORPHA:143
HP:0002027	Abdominal pain	7428	VHL	ORPHA:29072
HP:0002027	Abdominal pain	7428	VHL	ORPHA:276621
HP:0002027	Abdominal pain	1743	DLST	ORPHA:29072
HP:0002027	Abdominal pain	4191	MDH2	ORPHA:29072
HP:0002027	Abdominal pain	5979	RET	ORPHA:29072
HP:0002027	Abdominal pain	5979	RET	ORPHA:276621
HP:0002027	Abdominal pain	6389	SDHA	ORPHA:29072
HP:0002027	Abdominal pain	23095	KIF1B	ORPHA:29072
HP:0002027	Abdominal pain	2271	FH	ORPHA:29072
HP:0002027	Abdominal pain	8402	SLC25A11	ORPHA:29072
HP:0002027	Abdominal pain	54949	SDHAF2	ORPHA:29072
HP:0002027	Abdominal pain	55654	TMEM127	ORPHA:29072
HP:0002027	Abdominal pain	4763	NF1	ORPHA:29072
HP:0002027	Abdominal pain	6391	SDHC	ORPHA:29072
HP:0002027	Abdominal pain	6392	SDHD	ORPHA:29072
HP:0002027	Abdominal pain	6392	SDHD	ORPHA:276621
HP:0002027	Abdominal pain	6392	SDHD	ORPHA:100093
HP:0002027	Abdominal pain	6390	SDHB	ORPHA:29072
HP:0002027	Abdominal pain	6390	SDHB	ORPHA:276621
HP:0002027	Abdominal pain	4149	MAX	ORPHA:29072
HP:0002027	Abdominal pain	1788	DNMT3A	ORPHA:276621
HP:0002027	Abdominal pain	2034	EPAS1	ORPHA:276621
HP:0002027	Abdominal pain	10020	GNE	ORPHA:3166
HP:0002027	Abdominal pain	1376	CPT2	ORPHA:228305
HP:0002027	Abdominal pain	4023	LPL	OMIM:238600
HP:0002027	Abdominal pain	5277	PIGA	ORPHA:447
HP:0002027	Abdominal pain	2099	ESR1	ORPHA:785
HP:0002027	Abdominal pain	56246	MRAP	ORPHA:361
HP:0002027	Abdominal pain	6770	STAR	ORPHA:361
HP:0002027	Abdominal pain	4158	MC2R	ORPHA:361
HP:0002027	Abdominal pain	23530	NNT	ORPHA:361
HP:0002027	Abdominal pain	10587	TXNRD2	ORPHA:361
HP:0002027	Abdominal pain	1616	DAXX	ORPHA:100075
HP:0002027	Abdominal pain	546	ATRX	ORPHA:100075
HP:0002027	Abdominal pain	4210	MEFV	OMIM:249100
HP:0002027	Abdominal pain	3074	HEXB	OMIM:268800
HP:0002027	Abdominal pain	2065	ERBB3	OMIM:243180
HP:0002027	Abdominal pain	1027	CDKN1B	ORPHA:276152
HP:0002027	Abdominal pain	2313	FLI1	ORPHA:370348
HP:0002027	Abdominal pain	2161	F12	OMIM:610618
HP:0002027	Abdominal pain	8694	DGAT1	OMIM:615863
HP:0002027	Abdominal pain	210	ALAD	OMIM:612740
HP:0002027	Abdominal pain	5244	ABCB4	ORPHA:69663
HP:0002027	Abdominal pain	6476	SI	ORPHA:35122
HP:0002027	Abdominal pain	353	APRT	ORPHA:976
HP:0002027	Abdominal pain	171023	ASXL1	ORPHA:98850
HP:0002027	Abdominal pain	54790	TET2	ORPHA:98850
HP:0002027	Abdominal pain	867	CBL	ORPHA:98850
HP:0002027	Abdominal pain	861	RUNX1	ORPHA:98850
HP:0002027	Abdominal pain	6427	SRSF2	ORPHA:98850
HP:0002027	Abdominal pain	1890	TYMP	OMIM:603041
HP:0002027	Abdominal pain	5428	POLG	OMIM:603041
HP:0002027	Abdominal pain	5314	PKHD1	ORPHA:53035
HP:0002027	Abdominal pain	1288	COL4A6	ORPHA:1018
HP:0002027	Abdominal pain	1287	COL4A5	ORPHA:1018
HP:0002028	Chronic diarrhea	3689	ITGB2	OMIM:116920
HP:0002028	Chronic diarrhea	6555	SLC10A2	OMIM:613291
HP:0002028	Chronic diarrhea	695	BTK	OMIM:300755
HP:0002028	Chronic diarrhea	695	BTK	ORPHA:47
HP:0002028	Chronic diarrhea	90268	OTULIN	OMIM:617099
HP:0002028	Chronic diarrhea	3551	IKBKB	OMIM:615592
HP:0002028	Chronic diarrhea	79827	CLMP	OMIM:615237
HP:0002028	Chronic diarrhea	2984	GUCY2C	OMIM:614665
HP:0002028	Chronic diarrhea	2984	GUCY2C	OMIM:614616
HP:0002028	Chronic diarrhea	4598	MVK	OMIM:260920
HP:0002028	Chronic diarrhea	23394	ADNP	OMIM:615873
HP:0002028	Chronic diarrhea	118429	ANTXR2	ORPHA:2176
HP:0002028	Chronic diarrhea	987	LRBA	OMIM:614700
HP:0002028	Chronic diarrhea	538	ATP7A	OMIM:304150
HP:0002028	Chronic diarrhea	50943	FOXP3	OMIM:304790
HP:0002028	Chronic diarrhea	5293	PIK3CD	OMIM:619281
HP:0002028	Chronic diarrhea	6720	SREBF1	OMIM:158310
HP:0002028	Chronic diarrhea	55630	SLC39A4	ORPHA:37
HP:0002028	Chronic diarrhea	3718	JAK3	OMIM:600802
HP:0002028	Chronic diarrhea	3718	JAK3	ORPHA:35078
HP:0002028	Chronic diarrhea	92667	MGME1	OMIM:615084
HP:0002028	Chronic diarrhea	3561	IL2RG	OMIM:300400
HP:0002028	Chronic diarrhea	3561	IL2RG	ORPHA:39041
HP:0002028	Chronic diarrhea	6809	STX3	OMIM:619446
HP:0002028	Chronic diarrhea	6651	SON	OMIM:617140
HP:0002028	Chronic diarrhea	6651	SON	ORPHA:500150
HP:0002028	Chronic diarrhea	3074	HEXB	OMIM:268800
HP:0002028	Chronic diarrhea	23149	FCHO1	OMIM:619164
HP:0002028	Chronic diarrhea	51111	KMT5B	OMIM:617788
HP:0002028	Chronic diarrhea	10525	HYOU1	OMIM:233600
HP:0002028	Chronic diarrhea	4792	NFKBIA	OMIM:612132
HP:0002028	Chronic diarrhea	841	CASP8	OMIM:607271
HP:0002028	Chronic diarrhea	472	ATM	OMIM:208900
HP:0002028	Chronic diarrhea	7015	TERT	OMIM:613989
HP:0002028	Chronic diarrhea	427	ASAH1	ORPHA:333
HP:0002028	Chronic diarrhea	4072	EPCAM	ORPHA:92050
HP:0002028	Chronic diarrhea	105371045	PERCC1	ORPHA:92050
HP:0002028	Chronic diarrhea	7037	TFRC	OMIM:616740
HP:0002028	Chronic diarrhea	537	ATP6AP1	OMIM:300972
HP:0002028	Chronic diarrhea	84876	ORAI1	OMIM:612782
HP:0002028	Chronic diarrhea	1777	DNASE2	OMIM:619858
HP:0002028	Chronic diarrhea	3423	IDS	ORPHA:217085
HP:0002028	Chronic diarrhea	3423	IDS	ORPHA:217093
HP:0002028	Chronic diarrhea	26007	TKFC	OMIM:618805
HP:0002028	Chronic diarrhea	10616	RBCK1	OMIM:615895
HP:0002028	Chronic diarrhea	6499	SKIC2	OMIM:614602
HP:0002028	Chronic diarrhea	3572	IL6ST	OMIM:618523
HP:0002028	Chronic diarrhea	7132	TNFRSF1A	OMIM:142680
HP:0002028	Chronic diarrhea	4547	MTTP	ORPHA:14
HP:0002028	Chronic diarrhea	2068	ERCC2	OMIM:601675
HP:0002028	Chronic diarrhea	5528	PPP2R5D	OMIM:616355
HP:0002028	Chronic diarrhea	5528	PPP2R5D	ORPHA:457279
HP:0002028	Chronic diarrhea	146206	CARMIL2	OMIM:618131
HP:0002028	Chronic diarrhea	57511	COG6	OMIM:614576
HP:0002028	Chronic diarrhea	25839	COG4	OMIM:613489
HP:0002028	Chronic diarrhea	1380	CR2	OMIM:614699
HP:0002028	Chronic diarrhea	3981	LIG4	ORPHA:235
HP:0002028	Chronic diarrhea	3981	LIG4	ORPHA:39041
HP:0002028	Chronic diarrhea	54888	NSUN2	ORPHA:235
HP:0002028	Chronic diarrhea	7454	WAS	OMIM:301000
HP:0002028	Chronic diarrhea	7454	WAS	ORPHA:906
HP:0002028	Chronic diarrhea	7874	USP7	ORPHA:500055
HP:0002028	Chronic diarrhea	10043	TOM1	OMIM:619510
HP:0002028	Chronic diarrhea	54809	SAMD9	OMIM:617053
HP:0002028	Chronic diarrhea	57003	CCDC47	OMIM:618268
HP:0002028	Chronic diarrhea	10526	IPO8	OMIM:619472
HP:0002028	Chronic diarrhea	7737	RNF113A	OMIM:300953
HP:0002028	Chronic diarrhea	22900	CARD8	OMIM:619079
HP:0002028	Chronic diarrhea	1593	CYP27A1	ORPHA:909
HP:0002028	Chronic diarrhea	5295	PIK3R1	OMIM:616005
HP:0002028	Chronic diarrhea	3514	IGKC	OMIM:614102
HP:0002028	Chronic diarrhea	7456	WIPF1	ORPHA:906
HP:0002028	Chronic diarrhea	6023	RMRP	ORPHA:39041
HP:0002028	Chronic diarrhea	55636	CHD7	ORPHA:39041
HP:0002028	Chronic diarrhea	5896	RAG1	ORPHA:39041
HP:0002028	Chronic diarrhea	5897	RAG2	ORPHA:39041
HP:0002028	Chronic diarrhea	64421	DCLRE1C	ORPHA:39041
HP:0002028	Chronic diarrhea	64421	DCLRE1C	OMIM:602450
HP:0002028	Chronic diarrhea	100	ADA	ORPHA:39041
HP:0002028	Chronic diarrhea	100	ADA	OMIM:102700
HP:0002028	Chronic diarrhea	3575	IL7R	ORPHA:39041
HP:0002028	Chronic diarrhea	3575	IL7R	ORPHA:169154
HP:0002028	Chronic diarrhea	3425	IDUA	ORPHA:93473
HP:0002028	Chronic diarrhea	23474	ETHE1	OMIM:602473
HP:0002028	Chronic diarrhea	6523	SLC5A1	OMIM:606824
HP:0002028	Chronic diarrhea	55027	HEATR3	OMIM:620072
HP:0002028	Chronic diarrhea	56052	ALG1	ORPHA:79327
HP:0002028	Chronic diarrhea	3507	IGHM	OMIM:601495
HP:0002028	Chronic diarrhea	123264	SLC51B	OMIM:619481
HP:0002028	Chronic diarrhea	8567	MADD	OMIM:619004
HP:0002028	Chronic diarrhea	8567	MADD	OMIM:619005
HP:0002028	Chronic diarrhea	60468	BACH2	OMIM:618394
HP:0002028	Chronic diarrhea	200931	SLC51A	OMIM:619484
HP:0002028	Chronic diarrhea	11311	VPS45	OMIM:615285
HP:0002028	Chronic diarrhea	83737	ITCH	OMIM:613385
HP:0002028	Chronic diarrhea	6288	SAA1	ORPHA:85445
HP:0002028	Chronic diarrhea	50615	IL21R	OMIM:615207
HP:0002028	Chronic diarrhea	498	ATP5F1A	OMIM:620358
HP:0002028	Chronic diarrhea	917	CD3G	OMIM:615607
HP:0002028	Chronic diarrhea	10551	AGR2	OMIM:620233
HP:0002028	Chronic diarrhea	55343	SLC35C1	ORPHA:99843
HP:0002028	Chronic diarrhea	5422	POLA1	OMIM:301220
HP:0002028	Chronic diarrhea	5966	REL	OMIM:619652
HP:0002028	Chronic diarrhea	5317	PKP1	ORPHA:158668
HP:0002028	Chronic diarrhea	5236	PGM1	OMIM:614921
HP:0002028	Chronic diarrhea	84433	CARD11	OMIM:617638
HP:0002028	Chronic diarrhea	4683	NBN	ORPHA:647
HP:0002028	Chronic diarrhea	915	CD3D	OMIM:615617
HP:0002028	Chronic diarrhea	721	C4B	OMIM:614379
HP:0002028	Chronic diarrhea	359948	IRF2BP2	OMIM:617765
HP:0002028	Chronic diarrhea	1794	DOCK2	OMIM:616433
HP:0002028	Chronic diarrhea	6929	TCF3	OMIM:619824
HP:0002028	Chronic diarrhea	7535	ZAP70	ORPHA:911
HP:0002028	Chronic diarrhea	3559	IL2RA	OMIM:606367
HP:0002251	Aganglionic megacolon	79600	TCTN1	ORPHA:475
HP:0002251	Aganglionic megacolon	79848	CSPP1	ORPHA:475
HP:0002251	Aganglionic megacolon	51684	SUFU	ORPHA:475
HP:0002251	Aganglionic megacolon	54806	AHI1	ORPHA:475
HP:0002251	Aganglionic megacolon	54806	AHI1	ORPHA:220493
HP:0002251	Aganglionic megacolon	153241	CEP120	ORPHA:475
HP:0002251	Aganglionic megacolon	153241	CEP120	ORPHA:220493
HP:0002251	Aganglionic megacolon	65250	CPLANE1	ORPHA:475
HP:0002251	Aganglionic megacolon	91147	TMEM67	ORPHA:475
HP:0002251	Aganglionic megacolon	200894	ARL13B	ORPHA:475
HP:0002251	Aganglionic megacolon	9731	CEP104	ORPHA:475
HP:0002251	Aganglionic megacolon	219844	HYLS1	ORPHA:475
HP:0002251	Aganglionic megacolon	23247	KATNIP	ORPHA:475
HP:0002251	Aganglionic megacolon	219854	TMEM218	ORPHA:475
HP:0002251	Aganglionic megacolon	54903	MKS1	ORPHA:475
HP:0002251	Aganglionic megacolon	54903	MKS1	ORPHA:220493
HP:0002251	Aganglionic megacolon	95681	CEP41	ORPHA:475
HP:0002251	Aganglionic megacolon	95681	CEP41	ORPHA:220493
HP:0002251	Aganglionic megacolon	9786	KIAA0586	ORPHA:475
HP:0002251	Aganglionic megacolon	56623	INPP5E	ORPHA:475
HP:0002251	Aganglionic megacolon	56623	INPP5E	ORPHA:220493
HP:0002251	Aganglionic megacolon	79867	TCTN2	ORPHA:475
HP:0002251	Aganglionic megacolon	80776	B9D2	ORPHA:475
HP:0002251	Aganglionic megacolon	10464	PIBF1	ORPHA:475
HP:0002251	Aganglionic megacolon	80210	ARMC9	ORPHA:475
HP:0002251	Aganglionic megacolon	23116	TOGARAM1	ORPHA:475
HP:0002251	Aganglionic megacolon	25776	CBY1	ORPHA:475
HP:0002251	Aganglionic megacolon	27077	B9D1	ORPHA:475
HP:0002251	Aganglionic megacolon	403	ARL3	ORPHA:475
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:475
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:220497
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:2318
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:162300
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:142623
HP:0002251	Aganglionic megacolon	5979	RET	ORPHA:388
HP:0002251	Aganglionic megacolon	5979	RET	ORPHA:99803
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:171400
HP:0002251	Aganglionic megacolon	25970	SH2B1	ORPHA:261222
HP:0002251	Aganglionic megacolon	6535	SLC6A8	OMIM:300352
HP:0002251	Aganglionic megacolon	6535	SLC6A8	ORPHA:52503
HP:0002251	Aganglionic megacolon	10262	SF3B4	OMIM:154400
HP:0002251	Aganglionic megacolon	8260	NAA10	OMIM:309800
HP:0002251	Aganglionic megacolon	54880	BCOR	OMIM:309800
HP:0002251	Aganglionic megacolon	8929	PHOX2B	OMIM:209880
HP:0002251	Aganglionic megacolon	8929	PHOX2B	OMIM:613013
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:661
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:99803
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:2151
HP:0002251	Aganglionic megacolon	26128	KIFBP	OMIM:609460
HP:0002251	Aganglionic megacolon	26128	KIFBP	ORPHA:66629
HP:0002251	Aganglionic megacolon	6023	RMRP	OMIM:250250
HP:0002251	Aganglionic megacolon	6023	RMRP	ORPHA:175
HP:0002251	Aganglionic megacolon	23556	PIGN	ORPHA:2059
HP:0002251	Aganglionic megacolon	8195	MKKS	OMIM:236700
HP:0002251	Aganglionic megacolon	8195	MKKS	ORPHA:2473
HP:0002251	Aganglionic megacolon	84720	PIGO	OMIM:614749
HP:0002251	Aganglionic megacolon	84720	PIGO	ORPHA:247262
HP:0002251	Aganglionic megacolon	57167	SALL4	OMIM:607323
HP:0002251	Aganglionic megacolon	57167	SALL4	ORPHA:959
HP:0002251	Aganglionic megacolon	9839	ZEB2	OMIM:235730
HP:0002251	Aganglionic megacolon	9839	ZEB2	ORPHA:261537
HP:0002251	Aganglionic megacolon	9839	ZEB2	ORPHA:261552
HP:0002251	Aganglionic megacolon	6925	TCF4	ORPHA:2896
HP:0002251	Aganglionic megacolon	64324	NSD1	ORPHA:821
HP:0002251	Aganglionic megacolon	29072	SETD2	ORPHA:821
HP:0002251	Aganglionic megacolon	10297	APC2	ORPHA:821
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:661
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:388
HP:0002251	Aganglionic megacolon	1908	EDN3	OMIM:613265
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:897
HP:0002251	Aganglionic megacolon	1908	EDN3	OMIM:613712
HP:0002251	Aganglionic megacolon	627	BDNF	ORPHA:661
HP:0002251	Aganglionic megacolon	283446	MYO1H	ORPHA:661
HP:0002251	Aganglionic megacolon	215	ABCD1	ORPHA:388
HP:0002251	Aganglionic megacolon	6608	SMO	ORPHA:388
HP:0002251	Aganglionic megacolon	1889	ECE1	ORPHA:388
HP:0002251	Aganglionic megacolon	1889	ECE1	OMIM:613870
HP:0002251	Aganglionic megacolon	6720	SREBF1	ORPHA:388
HP:0002251	Aganglionic megacolon	223117	SEMA3D	ORPHA:388
HP:0002251	Aganglionic megacolon	538	ATP7A	ORPHA:388
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:388
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:277580
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:897
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:600155
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:895
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:600501
HP:0002251	Aganglionic megacolon	10512	SEMA3C	ORPHA:388
HP:0002251	Aganglionic megacolon	2065	ERBB3	ORPHA:388
HP:0002251	Aganglionic megacolon	2065	ERBB3	OMIM:243180
HP:0002251	Aganglionic megacolon	4902	NRTN	ORPHA:388
HP:0002251	Aganglionic megacolon	51360	MBTPS2	OMIM:308205
HP:0002251	Aganglionic megacolon	51360	MBTPS2	ORPHA:2273
HP:0002251	Aganglionic megacolon	51360	MBTPS2	ORPHA:85284
HP:0002251	Aganglionic megacolon	83479	DDX59	ORPHA:2919
HP:0002251	Aganglionic megacolon	83479	DDX59	OMIM:174300
HP:0002251	Aganglionic megacolon	2623	GATA1	OMIM:190685
HP:0002251	Aganglionic megacolon	23322	RPGRIP1L	ORPHA:220497
HP:0002251	Aganglionic megacolon	4867	NPHP1	ORPHA:220497
HP:0002251	Aganglionic megacolon	3845	KRAS	ORPHA:3339
HP:0002251	Aganglionic megacolon	72	ACTG2	ORPHA:2604
HP:0002251	Aganglionic megacolon	72	ACTG2	OMIM:155310
HP:0002251	Aganglionic megacolon	1717	DHCR7	ORPHA:818
HP:0002251	Aganglionic megacolon	1717	DHCR7	OMIM:270400
HP:0002251	Aganglionic megacolon	429	ASCL1	ORPHA:99803
HP:0002251	Aganglionic megacolon	4286	MITF	ORPHA:897
HP:0002251	Aganglionic megacolon	4286	MITF	ORPHA:895
HP:0002251	Aganglionic megacolon	6591	SNAI2	ORPHA:2884
HP:0002251	Aganglionic megacolon	6591	SNAI2	ORPHA:895
HP:0002251	Aganglionic megacolon	3815	KIT	ORPHA:2884
HP:0002251	Aganglionic megacolon	3815	KIT	OMIM:172800
HP:0002251	Aganglionic megacolon	55650	PIGV	OMIM:239300
HP:0002251	Aganglionic megacolon	55650	PIGV	ORPHA:247262
HP:0002251	Aganglionic megacolon	7846	TUBA1A	ORPHA:171680
HP:0002251	Aganglionic megacolon	170302	ARX	ORPHA:452
HP:0002251	Aganglionic megacolon	7299	TYR	ORPHA:895
HP:0002251	Aganglionic megacolon	4254	KITLG	ORPHA:895
HP:0002251	Aganglionic megacolon	5077	PAX3	ORPHA:894
HP:0002251	Aganglionic megacolon	5077	PAX3	OMIM:148820
HP:0002251	Aganglionic megacolon	84992	PIGY	ORPHA:247262
HP:0002251	Aganglionic megacolon	93210	PGAP3	ORPHA:247262
HP:0002251	Aganglionic megacolon	284098	PIGW	ORPHA:247262
HP:0002251	Aganglionic megacolon	27315	PGAP2	ORPHA:247262
HP:0002251	Aganglionic megacolon	27315	PGAP2	OMIM:614207
HP:0002251	Aganglionic megacolon	9487	PIGL	ORPHA:247262
HP:0002251	Aganglionic megacolon	84100	ARL6	OMIM:209900
HP:0002251	Aganglionic megacolon	79140	CCDC28B	OMIM:209900
HP:0002251	Aganglionic megacolon	582	BBS1	OMIM:209900
HP:0002251	Aganglionic megacolon	672	BRCA1	ORPHA:84
HP:0002251	Aganglionic megacolon	10459	MAD2L2	ORPHA:84
HP:0002251	Aganglionic megacolon	7516	XRCC2	ORPHA:84
HP:0002251	Aganglionic megacolon	29089	UBE2T	ORPHA:84
HP:0002251	Aganglionic megacolon	675	BRCA2	ORPHA:84
HP:0002251	Aganglionic megacolon	55120	FANCL	ORPHA:84
HP:0002251	Aganglionic megacolon	2177	FANCD2	ORPHA:84
HP:0002251	Aganglionic megacolon	2175	FANCA	ORPHA:84
HP:0002251	Aganglionic megacolon	2187	FANCB	ORPHA:84
HP:0002251	Aganglionic megacolon	2176	FANCC	ORPHA:84
HP:0002251	Aganglionic megacolon	2178	FANCE	ORPHA:84
HP:0002251	Aganglionic megacolon	2188	FANCF	ORPHA:84
HP:0002251	Aganglionic megacolon	2189	FANCG	ORPHA:84
HP:0002251	Aganglionic megacolon	5888	RAD51	ORPHA:84
HP:0002251	Aganglionic megacolon	5889	RAD51C	ORPHA:84
HP:0002251	Aganglionic megacolon	55159	RFWD3	ORPHA:84
HP:0002251	Aganglionic megacolon	83990	BRIP1	ORPHA:84
HP:0002251	Aganglionic megacolon	57697	FANCM	ORPHA:84
HP:0002251	Aganglionic megacolon	79728	PALB2	ORPHA:84
HP:0002251	Aganglionic megacolon	84464	SLX4	ORPHA:84
HP:0002251	Aganglionic megacolon	2072	ERCC4	ORPHA:84
HP:0002251	Aganglionic megacolon	55215	FANCI	ORPHA:84
HP:0002251	Aganglionic megacolon	546	ATRX	ORPHA:847
HP:0002251	Aganglionic megacolon	1312	COMT	ORPHA:567
HP:0002251	Aganglionic megacolon	221037	JMJD1C	ORPHA:567
HP:0002251	Aganglionic megacolon	2812	GP1BB	ORPHA:567
HP:0002251	Aganglionic megacolon	6239	RREB1	ORPHA:567
HP:0002251	Aganglionic megacolon	6899	TBX1	ORPHA:567
HP:0002251	Aganglionic megacolon	7290	HIRA	ORPHA:567
HP:0002251	Aganglionic megacolon	9632	SEC24C	ORPHA:567
HP:0002251	Aganglionic megacolon	7353	UFD1	ORPHA:567
HP:0002251	Aganglionic megacolon	421	ARVCF	ORPHA:567
HP:0002251	Aganglionic megacolon	79583	TMEM231	ORPHA:2318
HP:0002251	Aganglionic megacolon	51524	TMEM138	ORPHA:2318
HP:0002251	Aganglionic megacolon	23090	ZNF423	ORPHA:2318
HP:0002251	Aganglionic megacolon	80184	CEP290	ORPHA:2318
HP:0002251	Aganglionic megacolon	51259	TMEM216	ORPHA:2318
HP:0002251	Aganglionic megacolon	57545	CC2D2A	ORPHA:2318
HP:0002251	Aganglionic megacolon	2294	FOXF1	ORPHA:210122
HP:0002251	Aganglionic megacolon	3897	L1CAM	OMIM:304100
HP:0002251	Aganglionic megacolon	3897	L1CAM	ORPHA:1497
HP:0002251	Aganglionic megacolon	26040	SETBP1	ORPHA:798
HP:0002251	Aganglionic megacolon	2064	ERBB2	OMIM:619465
HP:0002251	Aganglionic megacolon	6663	SOX10	OMIM:609136
HP:0002251	Aganglionic megacolon	2668	GDNF	OMIM:613711
HP:0012240	Increased intramyocellular lipid droplets	1339	COX6A2	OMIM:619062
HP:0012240	Increased intramyocellular lipid droplets	6329	SCN4A	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	779	CACNA1S	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	779	CACNA1S	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	10008	KCNE3	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	4697	NDUFA4	OMIM:619065
HP:0012240	Increased intramyocellular lipid droplets	4574	MT-TS1	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	4570	MT-TN	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	6834	SURF1	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	8802	SUCLG1	ORPHA:17
HP:0012240	Increased intramyocellular lipid droplets	51099	ABHD5	ORPHA:98907
HP:0012240	Increased intramyocellular lipid droplets	4285	MIPEP	OMIM:617228
HP:0012240	Increased intramyocellular lipid droplets	4724	NDUFS4	OMIM:252010
HP:0012240	Increased intramyocellular lipid droplets	57104	PNPLA2	ORPHA:98908
HP:0012240	Increased intramyocellular lipid droplets	10939	AFG3L2	OMIM:614487
HP:0012240	Increased intramyocellular lipid droplets	400916	CHCHD10	ORPHA:457050
HP:0012240	Increased intramyocellular lipid droplets	56997	COQ8A	OMIM:612016
HP:0012240	Increased intramyocellular lipid droplets	55154	MSTO1	ORPHA:502423
HP:0012240	Increased intramyocellular lipid droplets	100134444	KCNJ18	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	2556	GABRA3	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	23479	ISCU	OMIM:255125
HP:0012240	Increased intramyocellular lipid droplets	6389	SDHA	OMIM:252011
HP:0012242	Superior rectus atrophy	55605	KIF21A	OMIM:135700
HP:0012242	Superior rectus atrophy	10381	TUBB3	OMIM:600638
HP:0012243	Abnormal reproductive system morphology	6911	TBX6	ORPHA:1797
HP:0012243	Abnormal reproductive system morphology	7248	TSC1	ORPHA:538
HP:0012243	Abnormal reproductive system morphology	7249	TSC2	ORPHA:538
HP:0012243	Abnormal reproductive system morphology	5979	RET	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	26281	FGF20	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	2674	GFRA1	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	7484	WNT9B	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	128	ADH5	OMIM:619151
HP:0012243	Abnormal reproductive system morphology	402381	SOHLH1	OMIM:617690
HP:0012243	Abnormal reproductive system morphology	317761	C14orf39	OMIM:619203
HP:0012243	Abnormal reproductive system morphology	8192	CLPP	OMIM:614129
HP:0012243	Abnormal reproductive system morphology	658	BMPR1B	OMIM:609441
HP:0012243	Abnormal reproductive system morphology	26284	ERAL1	OMIM:617565
HP:0012243	Abnormal reproductive system morphology	4439	MSH5	OMIM:617442
HP:0012243	Abnormal reproductive system morphology	51199	NIN	OMIM:614851
HP:0012243	Abnormal reproductive system morphology	344018	FIGLA	OMIM:612310
HP:0012243	Abnormal reproductive system morphology	3081	HGD	ORPHA:56
HP:0012243	Abnormal reproductive system morphology	695	BTK	OMIM:300755
HP:0012243	Abnormal reproductive system morphology	695	BTK	OMIM:307200
HP:0012243	Abnormal reproductive system morphology	1493	CTLA4	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	26191	PTPN22	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	3115	HLA-DPB1	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	5657	PRTN3	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	23394	ADNP	ORPHA:404448
HP:0012243	Abnormal reproductive system morphology	23394	ADNP	OMIM:615873
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	OMIM:616564
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	OMIM:605275
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	23135	KDM6B	OMIM:618505
HP:0012243	Abnormal reproductive system morphology	1024	CDK8	OMIM:618748
HP:0012243	Abnormal reproductive system morphology	1788	DNMT3A	ORPHA:404443
HP:0012243	Abnormal reproductive system morphology	1131	CHRM3	ORPHA:2970
HP:0012243	Abnormal reproductive system morphology	1131	CHRM3	OMIM:100100
HP:0012243	Abnormal reproductive system morphology	7258	TSPY1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57055	DAZ2	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57135	DAZ4	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	8287	USP9Y	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	5940	RBMY1A1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57054	DAZ3	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	8653	DDX3Y	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	1617	DAZ1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	80816	ASXL3	OMIM:615485
HP:0012243	Abnormal reproductive system morphology	55690	PACS1	OMIM:615009
HP:0012243	Abnormal reproductive system morphology	55690	PACS1	ORPHA:329224
HP:0012243	Abnormal reproductive system morphology	55904	KMT2E	OMIM:618512
HP:0012243	Abnormal reproductive system morphology	2192	FBLN1	ORPHA:404451
HP:0012243	Abnormal reproductive system morphology	284403	WDR62	OMIM:604317
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	OMIM:616580
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	ORPHA:453504
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	ORPHA:352665
HP:0012243	Abnormal reproductive system morphology	54453	RIN2	OMIM:613075
HP:0012243	Abnormal reproductive system morphology	54453	RIN2	ORPHA:217335
HP:0012243	Abnormal reproductive system morphology	113189	CHST14	ORPHA:2953
HP:0012243	Abnormal reproductive system morphology	113189	CHST14	OMIM:601776
HP:0012243	Abnormal reproductive system morphology	29940	DSE	ORPHA:2953
HP:0012243	Abnormal reproductive system morphology	55681	SCYL2	OMIM:618766
HP:0012243	Abnormal reproductive system morphology	10484	SEC23A	OMIM:607812
HP:0012243	Abnormal reproductive system morphology	23327	NEDD4L	OMIM:617201
HP:0012243	Abnormal reproductive system morphology	8036	SHOC2	ORPHA:2701
HP:0012243	Abnormal reproductive system morphology	8036	SHOC2	OMIM:607721
HP:0012243	Abnormal reproductive system morphology	5500	PPP1CB	ORPHA:2701
HP:0012243	Abnormal reproductive system morphology	5500	PPP1CB	OMIM:617506
HP:0012243	Abnormal reproductive system morphology	9860	LRIG2	ORPHA:2704
HP:0012243	Abnormal reproductive system morphology	60495	HPSE2	ORPHA:2704
HP:0012243	Abnormal reproductive system morphology	60495	HPSE2	OMIM:236730
HP:0012243	Abnormal reproductive system morphology	92482	BBIP1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	4867	NPHP1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	51057	WDPCP	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	51057	WDPCP	ORPHA:1338
HP:0012243	Abnormal reproductive system morphology	27241	BBS9	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	84984	CEP19	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	22954	TRIM32	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	79738	BBS10	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	55212	BBS7	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	166379	BBS12	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	23512	SUZ12	OMIM:618786
HP:0012243	Abnormal reproductive system morphology	23512	SUZ12	ORPHA:3447
HP:0012243	Abnormal reproductive system morphology	51633	OTUD6B	OMIM:617452
HP:0012243	Abnormal reproductive system morphology	51633	OTUD6B	ORPHA:505237
HP:0012243	Abnormal reproductive system morphology	641	BLM	OMIM:210900
HP:0012243	Abnormal reproductive system morphology	57688	ZSWIM6	OMIM:603671
HP:0012243	Abnormal reproductive system morphology	57688	ZSWIM6	ORPHA:1827
HP:0012243	Abnormal reproductive system morphology	8643	PTCH2	ORPHA:377
HP:0012243	Abnormal reproductive system morphology	23483	TGDS	OMIM:616145
HP:0012243	Abnormal reproductive system morphology	5081	PAX7	OMIM:618578
HP:0012243	Abnormal reproductive system morphology	389827	MYMK	OMIM:254940
HP:0012243	Abnormal reproductive system morphology	1798	DPAGT1	OMIM:608093
HP:0012243	Abnormal reproductive system morphology	2972	BRF1	ORPHA:444072
HP:0012243	Abnormal reproductive system morphology	2972	BRF1	OMIM:616202
HP:0012243	Abnormal reproductive system morphology	122402	TDRD9	OMIM:618110
HP:0012243	Abnormal reproductive system morphology	4952	OCRL	ORPHA:534
HP:0012243	Abnormal reproductive system morphology	4952	OCRL	OMIM:309000
HP:0012243	Abnormal reproductive system morphology	84340	GFM2	ORPHA:565624
HP:0012243	Abnormal reproductive system morphology	4927	NUP88	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4927	NUP88	OMIM:618393
HP:0012243	Abnormal reproductive system morphology	7846	TUBA1A	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4654	MYOD1	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4593	MUSK	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4593	MUSK	OMIM:208150
HP:0012243	Abnormal reproductive system morphology	5913	RAPSN	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	5913	RAPSN	OMIM:618388
HP:0012243	Abnormal reproductive system morphology	6572	SLC18A3	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	285489	DOK7	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	134218	DNAJC21	OMIM:617052
HP:0012243	Abnormal reproductive system morphology	94005	PIGS	OMIM:618143
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	ORPHA:503
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	ORPHA:1263
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	OMIM:108720
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	OMIM:150250
HP:0012243	Abnormal reproductive system morphology	10283	CWC27	ORPHA:166035
HP:0012243	Abnormal reproductive system morphology	10682	EBP	OMIM:300960
HP:0012243	Abnormal reproductive system morphology	10682	EBP	ORPHA:401973
HP:0012243	Abnormal reproductive system morphology	23112	TNRC6B	OMIM:619243
HP:0012243	Abnormal reproductive system morphology	91875	TTC5	OMIM:619244
HP:0012243	Abnormal reproductive system morphology	7169	TPM2	OMIM:108120
HP:0012243	Abnormal reproductive system morphology	23133	PHF8	ORPHA:85287
HP:0012243	Abnormal reproductive system morphology	5557	PRIM1	OMIM:620005
HP:0012243	Abnormal reproductive system morphology	55294	FBXW7	OMIM:620012
HP:0012243	Abnormal reproductive system morphology	9915	ARNT2	ORPHA:3157
HP:0012243	Abnormal reproductive system morphology	9915	ARNT2	OMIM:615926
HP:0012243	Abnormal reproductive system morphology	6095	RORA	OMIM:618060
HP:0012243	Abnormal reproductive system morphology	23241	PACS2	OMIM:618067
HP:0012243	Abnormal reproductive system morphology	10978	CLP1	OMIM:615803
HP:0012243	Abnormal reproductive system morphology	92579	G6PC3	OMIM:612541
HP:0012243	Abnormal reproductive system morphology	23545	ATP6V0A2	OMIM:278250
HP:0012243	Abnormal reproductive system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012243	Abnormal reproductive system morphology	84300	UQCC2	OMIM:615824
HP:0012243	Abnormal reproductive system morphology	79053	ALG8	OMIM:608104
HP:0012243	Abnormal reproductive system morphology	54496	PRMT7	ORPHA:464288
HP:0012243	Abnormal reproductive system morphology	165	AEBP1	ORPHA:536532
HP:0012243	Abnormal reproductive system morphology	165	AEBP1	OMIM:618000
HP:0012243	Abnormal reproductive system morphology	9653	HS2ST1	OMIM:619194
HP:0012243	Abnormal reproductive system morphology	64327	LMBR1	ORPHA:2378
HP:0012243	Abnormal reproductive system morphology	23345	SYNE1	ORPHA:319332
HP:0012243	Abnormal reproductive system morphology	23345	SYNE1	OMIM:618484
HP:0012243	Abnormal reproductive system morphology	89884	LHX4	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	6091	ROBO1	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	23432	GPR161	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	4094	MAF	ORPHA:1272
HP:0012243	Abnormal reproductive system morphology	10436	EMG1	ORPHA:1270
HP:0012243	Abnormal reproductive system morphology	81887	LAS1L	ORPHA:3459
HP:0012243	Abnormal reproductive system morphology	81887	LAS1L	OMIM:309585
HP:0012243	Abnormal reproductive system morphology	5422	POLA1	ORPHA:163976
HP:0012243	Abnormal reproductive system morphology	147372	CCBE1	OMIM:235510
HP:0012243	Abnormal reproductive system morphology	8726	EED	ORPHA:3447
HP:0012243	Abnormal reproductive system morphology	8726	EED	OMIM:617561
HP:0012243	Abnormal reproductive system morphology	6567	SLC16A2	ORPHA:59
HP:0012243	Abnormal reproductive system morphology	55023	PHIP	ORPHA:589905
HP:0012243	Abnormal reproductive system morphology	55023	PHIP	OMIM:617991
HP:0012243	Abnormal reproductive system morphology	4854	NOTCH3	OMIM:130720
HP:0012243	Abnormal reproductive system morphology	4854	NOTCH3	ORPHA:2789
HP:0012243	Abnormal reproductive system morphology	4893	NRAS	OMIM:613224
HP:0012243	Abnormal reproductive system morphology	4893	NRAS	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	2891	GRIA2	OMIM:618917
HP:0012243	Abnormal reproductive system morphology	10560	SLC19A2	OMIM:249270
HP:0012243	Abnormal reproductive system morphology	259232	NALCN	OMIM:615419
HP:0012243	Abnormal reproductive system morphology	259232	NALCN	ORPHA:2053
HP:0012243	Abnormal reproductive system morphology	79576	NKAP	OMIM:301039
HP:0012243	Abnormal reproductive system morphology	157680	VPS13B	ORPHA:193
HP:0012243	Abnormal reproductive system morphology	55617	TASP1	OMIM:618950
HP:0012243	Abnormal reproductive system morphology	28957	MRPS28	OMIM:618958
HP:0012243	Abnormal reproductive system morphology	1748	DLX4	OMIM:616788
HP:0012243	Abnormal reproductive system morphology	23389	MED13L	OMIM:616789
HP:0012243	Abnormal reproductive system morphology	23389	MED13L	ORPHA:369891
HP:0012243	Abnormal reproductive system morphology	6655	SOS2	OMIM:616559
HP:0012243	Abnormal reproductive system morphology	6655	SOS2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	246329	STAC3	OMIM:255995
HP:0012243	Abnormal reproductive system morphology	246329	STAC3	ORPHA:168572
HP:0012243	Abnormal reproductive system morphology	64682	ANAPC1	ORPHA:221008
HP:0012243	Abnormal reproductive system morphology	7528	YY1	ORPHA:506358
HP:0012243	Abnormal reproductive system morphology	7528	YY1	OMIM:617557
HP:0012243	Abnormal reproductive system morphology	23141	ANKLE2	OMIM:616681
HP:0012243	Abnormal reproductive system morphology	6016	RIT1	OMIM:615355
HP:0012243	Abnormal reproductive system morphology	6016	RIT1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	3008	H1-4	OMIM:617537
HP:0012243	Abnormal reproductive system morphology	2067	ERCC1	ORPHA:90322
HP:0012243	Abnormal reproductive system morphology	129563	DIS3L2	ORPHA:2849
HP:0012243	Abnormal reproductive system morphology	129563	DIS3L2	OMIM:267000
HP:0012243	Abnormal reproductive system morphology	1183	CLCN4	ORPHA:485350
HP:0012243	Abnormal reproductive system morphology	93627	TBCK	ORPHA:488632
HP:0012243	Abnormal reproductive system morphology	200734	SPRED2	OMIM:619745
HP:0012243	Abnormal reproductive system morphology	200734	SPRED2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	1182	CLCN3	OMIM:619512
HP:0012243	Abnormal reproductive system morphology	286	ANK1	ORPHA:251066
HP:0012243	Abnormal reproductive system morphology	145258	GSC	OMIM:602471
HP:0012243	Abnormal reproductive system morphology	2312	FLG	ORPHA:461
HP:0012243	Abnormal reproductive system morphology	9993	DGCR2	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	8220	ESS2	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	8214	DGCR6	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	54487	DGCR8	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	5286	PIK3C2A	OMIM:618440
HP:0012243	Abnormal reproductive system morphology	136647	MPLKIP	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	6897	TARS1	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	2071	ERCC3	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	2071	ERCC3	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	2961	GTF2E2	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	6878	TAF6	OMIM:617126
HP:0012243	Abnormal reproductive system morphology	6654	SOS1	OMIM:610733
HP:0012243	Abnormal reproductive system morphology	6654	SOS1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5076	PAX2	ORPHA:97362
HP:0012243	Abnormal reproductive system morphology	9759	HDAC4	OMIM:619797
HP:0012243	Abnormal reproductive system morphology	51728	POLR3K	OMIM:619310
HP:0012243	Abnormal reproductive system morphology	6885	MAP3K7	OMIM:617137
HP:0012243	Abnormal reproductive system morphology	26275	HIBCH	ORPHA:88639
HP:0012243	Abnormal reproductive system morphology	2710	GK	OMIM:307030
HP:0012243	Abnormal reproductive system morphology	84892	POMGNT2	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	148789	B3GALNT2	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	1282	COL4A1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	729920	CRPPA	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	10329	RXYLT1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	1605	DAG1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	84197	POMK	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	79068	FTO	OMIM:612938
HP:0012243	Abnormal reproductive system morphology	10082	GPC6	OMIM:258315
HP:0012243	Abnormal reproductive system morphology	10082	GPC6	ORPHA:93329
HP:0012243	Abnormal reproductive system morphology	3265	HRAS	ORPHA:3071
HP:0012243	Abnormal reproductive system morphology	3265	HRAS	ORPHA:2874
HP:0012243	Abnormal reproductive system morphology	1822	ATN1	OMIM:618494
HP:0012243	Abnormal reproductive system morphology	29895	MYL11	OMIM:619110
HP:0012243	Abnormal reproductive system morphology	1836	SLC26A2	ORPHA:628
HP:0012243	Abnormal reproductive system morphology	90416	CCDC32	OMIM:619123
HP:0012243	Abnormal reproductive system morphology	57020	VPS35L	OMIM:619135
HP:0012243	Abnormal reproductive system morphology	1984	EIF5A	OMIM:619376
HP:0012243	Abnormal reproductive system morphology	2733	GLE1	OMIM:611890
HP:0012243	Abnormal reproductive system morphology	22800	RRAS2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	867	CBL	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	867	CBL	OMIM:613563
HP:0012243	Abnormal reproductive system morphology	6237	RRAS	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	22808	MRAS	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5922	RASA2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	59	ACTA2	OMIM:613834
HP:0012243	Abnormal reproductive system morphology	221692	PHACTR1	OMIM:618298
HP:0012243	Abnormal reproductive system morphology	5605	MAP2K2	ORPHA:638
HP:0012243	Abnormal reproductive system morphology	5605	MAP2K2	ORPHA:1340
HP:0012243	Abnormal reproductive system morphology	9325	TRIP4	ORPHA:486815
HP:0012243	Abnormal reproductive system morphology	83483	PLVAP	OMIM:618183
HP:0012243	Abnormal reproductive system morphology	83700	JAM3	OMIM:613730
HP:0012243	Abnormal reproductive system morphology	2904	GRIN2B	OMIM:613970
HP:0012243	Abnormal reproductive system morphology	8854	ALDH1A2	OMIM:620025
HP:0012243	Abnormal reproductive system morphology	3636	INPPL1	ORPHA:3144
HP:0012243	Abnormal reproductive system morphology	23169	SLC35D1	ORPHA:3144
HP:0012243	Abnormal reproductive system morphology	8496	PPFIBP1	OMIM:620024
HP:0012243	Abnormal reproductive system morphology	26053	AUTS2	ORPHA:352490
HP:0012243	Abnormal reproductive system morphology	5826	ABCD4	OMIM:614857
HP:0012243	Abnormal reproductive system morphology	5594	MAPK1	OMIM:619087
HP:0012243	Abnormal reproductive system morphology	25802	LMOD1	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	4629	MYH11	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	72	ACTG2	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	4638	MYLK	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	5832	ALDH18A1	OMIM:219150
HP:0012243	Abnormal reproductive system morphology	84919	PPP1R15B	OMIM:616817
HP:0012243	Abnormal reproductive system morphology	51244	CCDC174	OMIM:616816
HP:0012243	Abnormal reproductive system morphology	254065	BRWD3	OMIM:300659
HP:0012243	Abnormal reproductive system morphology	2200	FBN1	ORPHA:2462
HP:0012243	Abnormal reproductive system morphology	7507	XPA	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	7508	XPC	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	1643	DDB2	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	2073	ERCC5	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	274	BIN1	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	64419	MTMR14	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	4618	MYF6	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	1785	DNM2	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	2702	GJA5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	1482	NKX2-5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	137814	NKX2-6	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	3791	KDR	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2627	GATA6	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2657	GDF1	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	182	JAG1	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	140628	GATA5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	10370	CITED2	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	5831	PYCR1	OMIM:614438
HP:0012243	Abnormal reproductive system morphology	4297	KMT2A	OMIM:605130
HP:0012243	Abnormal reproductive system morphology	2592	GALT	ORPHA:79239
HP:0012243	Abnormal reproductive system morphology	10265	IRX5	OMIM:611174
HP:0012243	Abnormal reproductive system morphology	7074	TIAM1	OMIM:619908
HP:0012243	Abnormal reproductive system morphology	8905	AP1S2	ORPHA:1568
HP:0012243	Abnormal reproductive system morphology	8241	RBM10	ORPHA:2886
HP:0012243	Abnormal reproductive system morphology	5455	POU3F3	OMIM:618604
HP:0012243	Abnormal reproductive system morphology	3251	HPRT1	OMIM:300322
HP:0012243	Abnormal reproductive system morphology	7466	WFS1	OMIM:222300
HP:0012243	Abnormal reproductive system morphology	5428	POLG	OMIM:157640
HP:0012243	Abnormal reproductive system morphology	654	BMP6	ORPHA:465508
HP:0012243	Abnormal reproductive system morphology	3077	HFE	ORPHA:465508
HP:0012243	Abnormal reproductive system morphology	3077	HFE	OMIM:235200
HP:0012243	Abnormal reproductive system morphology	1760	DMPK	OMIM:160900
HP:0012243	Abnormal reproductive system morphology	56159	TEX11	OMIM:309120
HP:0012243	Abnormal reproductive system morphology	650	BMP2	OMIM:235200
HP:0012243	Abnormal reproductive system morphology	7374	UNG	OMIM:608106
HP:0012243	Abnormal reproductive system morphology	5696	PSMB8	OMIM:256040
HP:0012243	Abnormal reproductive system morphology	3514	IGKC	ORPHA:183675
HP:0012243	Abnormal reproductive system morphology	3501	IGHG2	ORPHA:183675
HP:0012243	Abnormal reproductive system morphology	6309	SC5D	OMIM:607330
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	OMIM:137940
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	ORPHA:69735
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	OMIM:607823
HP:0012243	Abnormal reproductive system morphology	1802	DPH2	OMIM:620062
HP:0012243	Abnormal reproductive system morphology	9780	PIEZO1	OMIM:616843
HP:0012243	Abnormal reproductive system morphology	2324	FLT4	OMIM:153100
HP:0012243	Abnormal reproductive system morphology	2324	FLT4	ORPHA:79452
HP:0012243	Abnormal reproductive system morphology	285	ANGPT2	OMIM:619369
HP:0012243	Abnormal reproductive system morphology	9508	ADAMTS3	OMIM:618154
HP:0012243	Abnormal reproductive system morphology	9739	SETD1A	OMIM:618832
HP:0012243	Abnormal reproductive system morphology	57165	GJC2	ORPHA:79452
HP:0012243	Abnormal reproductive system morphology	2122	MECOM	OMIM:616738
HP:0012243	Abnormal reproductive system morphology	80267	EDEM3	OMIM:619493
HP:0012243	Abnormal reproductive system morphology	9487	PIGL	OMIM:280000
HP:0012243	Abnormal reproductive system morphology	2146	EZH2	OMIM:277590
HP:0012243	Abnormal reproductive system morphology	55901	THSD1	OMIM:620244
HP:0012243	Abnormal reproductive system morphology	29969	MDFIC	OMIM:620014
HP:0012243	Abnormal reproductive system morphology	7424	VEGFC	OMIM:615907
HP:0012243	Abnormal reproductive system morphology	472	ATM	ORPHA:100
HP:0012243	Abnormal reproductive system morphology	92840	REEP6	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6094	ROM1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6017	RLBP1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	7401	CLRN1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	24	ABCA4	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	130557	ZNF513	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	92211	CDHR1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	23568	ARL2BP	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6121	RPE65	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	54806	AHI1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6101	RP1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	3419	IDH3A	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	4751	NEK2	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	346007	EYS	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	8100	IFT88	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	23020	SNRNP200	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	762	CA4	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	138050	HGSNAT	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	196	AHR	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	3614	IMPDH1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6103	RPGR	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	1406	CRX	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5148	PDE6G	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	26121	PRPF31	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	4117	MAK	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	25794	FSCN2	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	375298	CERKL	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	3420	IDH3B	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	57670	KIAA1549	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	7275	TUB	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	24148	PRPF6	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	23418	CRB1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	10461	MERTK	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	57709	SLC7A14	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	768206	PRCD	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	7399	USH2A	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	23370	ARHGEF18	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5949	RBP3	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6010	RHO	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6100	RP9	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	10002	NR2E3	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	9227	LRAT	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	84140	FAM161A	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	55812	SPATA7	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	55624	POMGNT1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	79797	ZNF408	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	403	ARL3	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5145	PDE6A	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	8842	PROM1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	9128	PRPF4	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	145226	RDH12	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	50939	IMPG2	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	49855	SCAPER	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	9742	IFT140	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	2979	GUCA1B	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	1259	CNGA1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	1258	CNGB1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	60509	AGBL5	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5961	PRPH2	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	388939	PCARE	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	7439	BEST1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	9785	DHX38	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	7287	TULP1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5995	RGR	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	9129	PRPF3	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	55975	KLHL7	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	3617	IMPG1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	94137	RP1L1	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	5158	PDE6B	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6102	RP2	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	55857	KIZ	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	4901	NRL	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	157657	CFAP418	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	10594	PRPF8	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	6295	SAG	ORPHA:791
HP:0012243	Abnormal reproductive system morphology	80169	CTC1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	26277	TINF2	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55651	NHP2	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	79650	USB1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55135	WRAP53	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	51750	RTEL1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	4869	NPM1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7012	TERC	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55505	NOP10	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	5073	PARN	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7015	TERT	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7298	TYMS	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	2697	GJA1	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	2707	GJB3	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	2531	KDSR	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	127534	GJB4	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	7486	WRN	ORPHA:902
HP:0012243	Abnormal reproductive system morphology	10483	SEC23B	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6390	SDHB	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6392	SDHD	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6391	SDHC	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	205717	USF3	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	5290	PIK3CA	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	100144748	KLLN	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	3845	KRAS	ORPHA:3339
HP:0012243	Abnormal reproductive system morphology	63895	PIEZO2	ORPHA:2461
HP:0012243	Abnormal reproductive system morphology	55733	HHAT	ORPHA:1422
HP:0012243	Abnormal reproductive system morphology	55733	HHAT	OMIM:600092
HP:0012243	Abnormal reproductive system morphology	268	AMH	ORPHA:2856
HP:0012243	Abnormal reproductive system morphology	269	AMHR2	ORPHA:2856
HP:0012243	Abnormal reproductive system morphology	1761	DMRT1	ORPHA:242
HP:0012243	Abnormal reproductive system morphology	84733	CBX2	ORPHA:242
HP:0012243	Abnormal reproductive system morphology	5567	PRKACB	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	2735	GLI1	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	2121	EVC	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	2121	EVC	OMIM:225500
HP:0012243	Abnormal reproductive system morphology	51626	DYNC2LI1	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	132884	EVC2	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	132884	EVC2	OMIM:225500
HP:0012243	Abnormal reproductive system morphology	29123	ANKRD11	OMIM:148050
HP:0012243	Abnormal reproductive system morphology	26005	C2CD3	ORPHA:434179
HP:0012243	Abnormal reproductive system morphology	26005	C2CD3	OMIM:615948
HP:0012243	Abnormal reproductive system morphology	3670	ISL1	ORPHA:93930
HP:0012243	Abnormal reproductive system morphology	157570	ESCO2	OMIM:268300
HP:0012243	Abnormal reproductive system morphology	157570	ESCO2	ORPHA:3103
HP:0012243	Abnormal reproductive system morphology	3756	KCNH1	OMIM:135500
HP:0012243	Abnormal reproductive system morphology	3973	LHCGR	ORPHA:3000
HP:0012243	Abnormal reproductive system morphology	11128	POLR3A	OMIM:264090
HP:0012243	Abnormal reproductive system morphology	83550	GPR101	ORPHA:963
HP:0012243	Abnormal reproductive system morphology	9049	AIP	ORPHA:963
HP:0012243	Abnormal reproductive system morphology	23028	KDM1A	ORPHA:477993
HP:0012243	Abnormal reproductive system morphology	23028	KDM1A	OMIM:616728
HP:0012243	Abnormal reproductive system morphology	7750	ZMYM2	OMIM:619522
HP:0012243	Abnormal reproductive system morphology	9578	CDC42BPB	OMIM:619841
HP:0012243	Abnormal reproductive system morphology	1859	DYRK1A	ORPHA:268261
HP:0012243	Abnormal reproductive system morphology	833	CARS1	OMIM:618891
HP:0012243	Abnormal reproductive system morphology	4659	PPP1R12A	OMIM:618820
HP:0012243	Abnormal reproductive system morphology	3209	HOXA13	OMIM:140000
HP:0012243	Abnormal reproductive system morphology	1009	CDH11	ORPHA:1299
HP:0012243	Abnormal reproductive system morphology	7473	WNT3	OMIM:273395
HP:0012243	Abnormal reproductive system morphology	5324	PLAG1	ORPHA:397590
HP:0012243	Abnormal reproductive system morphology	8091	HMGA2	ORPHA:397590
HP:0012243	Abnormal reproductive system morphology	201595	STT3B	OMIM:615597
HP:0012243	Abnormal reproductive system morphology	201595	STT3B	ORPHA:370924
HP:0012243	Abnormal reproductive system morphology	10056	FARSB	OMIM:613658
HP:0012243	Abnormal reproductive system morphology	84172	POLR1B	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	9533	POLR1C	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	51082	POLR1D	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	6949	TCOF1	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	4983	OPHN1	OMIM:300486
HP:0012243	Abnormal reproductive system morphology	84162	BLTP1	OMIM:617822
HP:0012243	Abnormal reproductive system morphology	4010	LMX1B	ORPHA:495818
HP:0012243	Abnormal reproductive system morphology	6812	STXBP1	ORPHA:495818
HP:0012243	Abnormal reproductive system morphology	10982	MAPRE2	OMIM:616734
HP:0012243	Abnormal reproductive system morphology	10982	MAPRE2	ORPHA:2505
HP:0012243	Abnormal reproductive system morphology	5818	NECTIN1	ORPHA:3253
HP:0012243	Abnormal reproductive system morphology	2068	ERCC2	OMIM:610756
HP:0012243	Abnormal reproductive system morphology	3703	STT3A	ORPHA:370921
HP:0012243	Abnormal reproductive system morphology	9968	MED12	OMIM:300895
HP:0012243	Abnormal reproductive system morphology	6261	RYR1	ORPHA:98905
HP:0012243	Abnormal reproductive system morphology	7476	WNT7A	OMIM:276820
HP:0012243	Abnormal reproductive system morphology	4621	MYH3	ORPHA:2990
HP:0012243	Abnormal reproductive system morphology	1146	CHRNG	ORPHA:2990
HP:0012243	Abnormal reproductive system morphology	84295	PHF6	ORPHA:127
HP:0012243	Abnormal reproductive system morphology	79087	ALG12	OMIM:607143
HP:0012243	Abnormal reproductive system morphology	3730	ANOS1	OMIM:308700
HP:0012243	Abnormal reproductive system morphology	10908	PNPLA6	OMIM:245800
HP:0012243	Abnormal reproductive system morphology	6926	TBX3	OMIM:181450
HP:0012243	Abnormal reproductive system morphology	652	BMP4	OMIM:607932
HP:0012243	Abnormal reproductive system morphology	8295	TRRAP	OMIM:618454
HP:0012243	Abnormal reproductive system morphology	372	ARCN1	OMIM:617164
HP:0012243	Abnormal reproductive system morphology	60529	ALX4	ORPHA:228390
HP:0012243	Abnormal reproductive system morphology	203068	TUBB	ORPHA:2505
HP:0012243	Abnormal reproductive system morphology	26235	FBXL4	OMIM:615471
HP:0012243	Abnormal reproductive system morphology	1947	EFNB1	ORPHA:1520
HP:0012243	Abnormal reproductive system morphology	1947	EFNB1	OMIM:304110
HP:0012243	Abnormal reproductive system morphology	9820	CUL7	ORPHA:2616
HP:0012243	Abnormal reproductive system morphology	9820	CUL7	OMIM:273750
HP:0012243	Abnormal reproductive system morphology	23363	OBSL1	ORPHA:2616
HP:0012243	Abnormal reproductive system morphology	83987	CCDC8	ORPHA:2616
HP:0012243	Abnormal reproductive system morphology	81857	MED25	OMIM:616449
HP:0012243	Abnormal reproductive system morphology	81857	MED25	ORPHA:464738
HP:0012243	Abnormal reproductive system morphology	1736	DKC1	OMIM:305000
HP:0012243	Abnormal reproductive system morphology	267010	RNU12	OMIM:603116
HP:0012243	Abnormal reproductive system morphology	5932	RBBP8	OMIM:606744
HP:0012243	Abnormal reproductive system morphology	116931	MED12L	OMIM:618872
HP:0012243	Abnormal reproductive system morphology	8239	USP9X	OMIM:300919
HP:0012243	Abnormal reproductive system morphology	4853	NOTCH2	OMIM:102500
HP:0012243	Abnormal reproductive system morphology	4853	NOTCH2	ORPHA:955
HP:0012243	Abnormal reproductive system morphology	7020	TFAP2A	OMIM:113620
HP:0012243	Abnormal reproductive system morphology	10815	CPLX1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	10815	CPLX1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	54872	PIGG	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	7469	NELFA	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	1487	CTBP1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	1487	CTBP1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	3954	LETM1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	3954	LETM1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	7468	NSD2	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	7468	NSD2	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	54968	TMEM70	OMIM:614052
HP:0012243	Abnormal reproductive system morphology	54968	TMEM70	ORPHA:1194
HP:0012243	Abnormal reproductive system morphology	57178	ZMIZ1	OMIM:618659
HP:0012243	Abnormal reproductive system morphology	8642	DCHS1	OMIM:601390
HP:0012243	Abnormal reproductive system morphology	8642	DCHS1	ORPHA:314679
HP:0012243	Abnormal reproductive system morphology	2316	FLNA	ORPHA:90652
HP:0012243	Abnormal reproductive system morphology	2316	FLNA	OMIM:304120
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	OMIM:309800
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	ORPHA:568
HP:0012243	Abnormal reproductive system morphology	54914	FOCAD	OMIM:619991
HP:0012243	Abnormal reproductive system morphology	8363	H4C11	OMIM:619759
HP:0012243	Abnormal reproductive system morphology	9772	TMEM94	OMIM:618316
HP:0012243	Abnormal reproductive system morphology	2239	GPC4	ORPHA:373
HP:0012243	Abnormal reproductive system morphology	2239	GPC4	OMIM:312870
HP:0012243	Abnormal reproductive system morphology	2719	GPC3	ORPHA:373
HP:0012243	Abnormal reproductive system morphology	2719	GPC3	OMIM:312870
HP:0012243	Abnormal reproductive system morphology	9725	TMEM63A	OMIM:618688
HP:0012243	Abnormal reproductive system morphology	6135	RPL11	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6138	RPL15	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6229	RPS24	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6125	RPL5	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6204	RPS10	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6165	RPL35A	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6165	RPL35A	OMIM:612528
HP:0012243	Abnormal reproductive system morphology	2623	GATA1	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6223	RPS19	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6232	RPS27	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6231	RPS26	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	11224	RPL35	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6160	RPL31	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6218	RPS17	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6201	RPS7	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6155	RPL27	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6154	RPL26	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6210	RPS15A	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6141	RPL18	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6235	RPS29	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6234	RPS28	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	51816	ADA2	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	1523	CUX1	OMIM:618330
HP:0012243	Abnormal reproductive system morphology	22827	PUF60	ORPHA:508498
HP:0012243	Abnormal reproductive system morphology	6477	SIAH1	OMIM:619314
HP:0012243	Abnormal reproductive system morphology	8473	OGT	OMIM:300997
HP:0012243	Abnormal reproductive system morphology	10765	KDM5B	OMIM:618109
HP:0012243	Abnormal reproductive system morphology	5308	PITX2	ORPHA:782
HP:0012243	Abnormal reproductive system morphology	5308	PITX2	OMIM:180500
HP:0012243	Abnormal reproductive system morphology	2296	FOXC1	ORPHA:782
HP:0012243	Abnormal reproductive system morphology	27125	AFF4	ORPHA:444077
HP:0012243	Abnormal reproductive system morphology	29998	BICRA	OMIM:619325
HP:0012243	Abnormal reproductive system morphology	3039	HBA1	ORPHA:98791
HP:0012243	Abnormal reproductive system morphology	3040	HBA2	ORPHA:98791
HP:0012243	Abnormal reproductive system morphology	50945	TBX22	OMIM:302905
HP:0012243	Abnormal reproductive system morphology	50945	TBX22	ORPHA:921
HP:0012243	Abnormal reproductive system morphology	1312	COMT	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	221037	JMJD1C	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	2812	GP1BB	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	6239	RREB1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	6899	TBX1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	7290	HIRA	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	9632	SEC24C	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	7353	UFD1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	421	ARVCF	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	10524	KAT5	OMIM:619103
HP:0012243	Abnormal reproductive system morphology	8802	SUCLG1	ORPHA:17
HP:0012243	Abnormal reproductive system morphology	4700	NDUFA6	OMIM:618253
HP:0012243	Abnormal reproductive system morphology	2475	MTOR	ORPHA:457485
HP:0012243	Abnormal reproductive system morphology	54809	SAMD9	OMIM:617053
HP:0012243	Abnormal reproductive system morphology	673	BRAF	ORPHA:500
HP:0012243	Abnormal reproductive system morphology	673	BRAF	OMIM:163950
HP:0012243	Abnormal reproductive system morphology	5894	RAF1	ORPHA:500
HP:0012243	Abnormal reproductive system morphology	2887	GRB10	ORPHA:96182
HP:0012243	Abnormal reproductive system morphology	51360	MBTPS2	OMIM:308205
HP:0012243	Abnormal reproductive system morphology	22995	CEP152	OMIM:613823
HP:0012243	Abnormal reproductive system morphology	10084	PQBP1	OMIM:309500
HP:0012243	Abnormal reproductive system morphology	6748	SSR4	OMIM:300934
HP:0012243	Abnormal reproductive system morphology	219844	HYLS1	OMIM:236680
HP:0012243	Abnormal reproductive system morphology	9897	WASHC5	ORPHA:7
HP:0012243	Abnormal reproductive system morphology	9897	WASHC5	OMIM:220210
HP:0012243	Abnormal reproductive system morphology	28952	CCDC22	ORPHA:7
HP:0012243	Abnormal reproductive system morphology	55181	SMG8	OMIM:619268
HP:0012243	Abnormal reproductive system morphology	3735	KARS1	OMIM:619147
HP:0012243	Abnormal reproductive system morphology	4713	NDUFB7	OMIM:620135
HP:0012243	Abnormal reproductive system morphology	4702	NDUFA8	OMIM:619272
HP:0012243	Abnormal reproductive system morphology	10128	LRPPRC	OMIM:220111
HP:0012243	Abnormal reproductive system morphology	2294	FOXF1	OMIM:265380
HP:0012243	Abnormal reproductive system morphology	23556	PIGN	ORPHA:2059
HP:0012243	Abnormal reproductive system morphology	64324	NSD1	ORPHA:821
HP:0012243	Abnormal reproductive system morphology	29072	SETD2	ORPHA:821
HP:0012243	Abnormal reproductive system morphology	10297	APC2	ORPHA:821
HP:0012243	Abnormal reproductive system morphology	55780	ERMARD	ORPHA:75857
HP:0012243	Abnormal reproductive system morphology	9382	COG1	OMIM:611209
HP:0012243	Abnormal reproductive system morphology	1136	CHRNA3	OMIM:191800
HP:0012243	Abnormal reproductive system morphology	672	BRCA1	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	10459	MAD2L2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	7516	XRCC2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	29089	UBE2T	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	675	BRCA2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2175	FANCA	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2176	FANCC	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2178	FANCE	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2188	FANCF	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2189	FANCG	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	5888	RAD51	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	55159	RFWD3	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	83990	BRIP1	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	57697	FANCM	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	79728	PALB2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	84464	SLX4	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2072	ERCC4	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	55215	FANCI	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	7080	NKX2-1	ORPHA:209905
HP:0012243	Abnormal reproductive system morphology	222663	SCUBE3	OMIM:619184
HP:0012243	Abnormal reproductive system morphology	83879	CDCA7	OMIM:616910
HP:0012243	Abnormal reproductive system morphology	53834	FGFRL1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	5828	PEX2	OMIM:614866
HP:0012243	Abnormal reproductive system morphology	5828	PEX2	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	57459	GATAD2B	ORPHA:363686
HP:0012243	Abnormal reproductive system morphology	9652	SKIC3	OMIM:222470
HP:0012243	Abnormal reproductive system morphology	5631	PRPS1	OMIM:300661
HP:0012243	Abnormal reproductive system morphology	123016	TTC8	OMIM:615985
HP:0012243	Abnormal reproductive system morphology	55670	PEX26	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5824	PEX19	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	8504	PEX3	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	8799	PEX11B	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	9409	PEX16	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5830	PEX5	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5193	PEX12	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5194	PEX13	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5195	PEX14	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5192	PEX10	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	10159	ATP6AP2	OMIM:301045
HP:0012243	Abnormal reproductive system morphology	10586	MAB21L2	OMIM:615877
HP:0012243	Abnormal reproductive system morphology	55209	SETD5	OMIM:615761
HP:0012243	Abnormal reproductive system morphology	998	CDC42	OMIM:616737
HP:0012243	Abnormal reproductive system morphology	998	CDC42	ORPHA:487796
HP:0012243	Abnormal reproductive system morphology	8831	SYNGAP1	ORPHA:544254
HP:0012243	Abnormal reproductive system morphology	6597	SMARCA4	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6598	SMARCB1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6659	SOX4	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	8289	ARID1A	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	5977	DPF2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6601	SMARCC2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6602	SMARCD1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	196528	ARID2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6605	SMARCE1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6664	SOX11	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	10683	DLL3	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	3955	LFNG	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	84667	HES7	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	145873	MESP2	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	25	ABL1	OMIM:617602
HP:0012243	Abnormal reproductive system morphology	545	ATR	OMIM:210600
HP:0012243	Abnormal reproductive system morphology	5723	PSPH	ORPHA:79350
HP:0012243	Abnormal reproductive system morphology	1589	CYP21A2	OMIM:201910
HP:0012243	Abnormal reproductive system morphology	25914	RTTN	ORPHA:468631
HP:0012243	Abnormal reproductive system morphology	4796	TONSL	ORPHA:93357
HP:0012243	Abnormal reproductive system morphology	5879	RAC1	OMIM:617751
HP:0012243	Abnormal reproductive system morphology	5879	RAC1	ORPHA:500159
HP:0012243	Abnormal reproductive system morphology	51780	KDM3B	OMIM:618846
HP:0012243	Abnormal reproductive system morphology	4724	NDUFS4	OMIM:252010
HP:0012243	Abnormal reproductive system morphology	1468	SLC25A10	OMIM:618972
HP:0012243	Abnormal reproductive system morphology	5604	MAP2K1	OMIM:163950
HP:0012243	Abnormal reproductive system morphology	6299	SALL1	OMIM:107480
HP:0012243	Abnormal reproductive system morphology	6299	SALL1	ORPHA:857
HP:0012243	Abnormal reproductive system morphology	51339	DACT1	ORPHA:857
HP:0012243	Abnormal reproductive system morphology	26128	KIFBP	ORPHA:66629
HP:0012243	Abnormal reproductive system morphology	51733	UPB1	OMIM:613161
HP:0012243	Abnormal reproductive system morphology	51651	PTRH2	OMIM:616263
HP:0012243	Abnormal reproductive system morphology	51651	PTRH2	ORPHA:456312
HP:0012243	Abnormal reproductive system morphology	3975	LHX1	ORPHA:261265
HP:0012243	Abnormal reproductive system morphology	340533	NEXMIF	ORPHA:85277
HP:0012243	Abnormal reproductive system morphology	54499	TMCO1	OMIM:213980
HP:0012243	Abnormal reproductive system morphology	9496	TBX4	ORPHA:261279
HP:0012243	Abnormal reproductive system morphology	23384	SPECC1L	OMIM:145420
HP:0012243	Abnormal reproductive system morphology	23384	SPECC1L	ORPHA:1519
HP:0012243	Abnormal reproductive system morphology	124512	METTL23	OMIM:615942
HP:0012243	Abnormal reproductive system morphology	4000	LMNA	ORPHA:740
HP:0012243	Abnormal reproductive system morphology	10269	ZMPSTE24	ORPHA:740
HP:0012243	Abnormal reproductive system morphology	8087	FXR1	OMIM:618823
HP:0012243	Abnormal reproductive system morphology	10274	STAG1	ORPHA:502434
HP:0012243	Abnormal reproductive system morphology	2218	FKTN	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	131118	DNAJC19	ORPHA:66634
HP:0012243	Abnormal reproductive system morphology	4204	MECP2	OMIM:300055
HP:0012243	Abnormal reproductive system morphology	4204	MECP2	ORPHA:3077
HP:0012243	Abnormal reproductive system morphology	27316	RBMX	OMIM:300238
HP:0012243	Abnormal reproductive system morphology	8367	H4C5	OMIM:619950
HP:0012243	Abnormal reproductive system morphology	4763	NF1	ORPHA:139474
HP:0012243	Abnormal reproductive system morphology	2332	FMR1	ORPHA:908
HP:0012243	Abnormal reproductive system morphology	11141	IL1RAPL1	OMIM:300143
HP:0012243	Abnormal reproductive system morphology	1193	CLIC2	OMIM:300886
HP:0012243	Abnormal reproductive system morphology	1193	CLIC2	ORPHA:324410
HP:0012243	Abnormal reproductive system morphology	175	AGA	OMIM:208400
HP:0012243	Abnormal reproductive system morphology	175	AGA	ORPHA:93
HP:0012243	Abnormal reproductive system morphology	51114	ZDHHC9	ORPHA:776
HP:0012243	Abnormal reproductive system morphology	65109	UPF3B	ORPHA:776
HP:0012243	Abnormal reproductive system morphology	7252	TSHB	ORPHA:90674
HP:0012243	Abnormal reproductive system morphology	8450	CUL4B	OMIM:300354
HP:0012243	Abnormal reproductive system morphology	8294	H4C9	OMIM:619951
HP:0012243	Abnormal reproductive system morphology	128674	PROKR2	OMIM:244200
HP:0012243	Abnormal reproductive system morphology	128674	PROKR2	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	128674	PROKR2	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	6938	TCF12	OMIM:619718
HP:0012243	Abnormal reproductive system morphology	91801	ALKBH8	OMIM:618504
HP:0012243	Abnormal reproductive system morphology	4281	MID1	OMIM:300000
HP:0012243	Abnormal reproductive system morphology	374654	KIF7	OMIM:200990
HP:0012243	Abnormal reproductive system morphology	58	ACTA1	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	4703	NEB	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	131377	KLHL40	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	10324	KLHL41	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	56203	LMOD3	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	1723	DHODH	OMIM:263750
HP:0012243	Abnormal reproductive system morphology	1841	DTYMK	OMIM:619847
HP:0012243	Abnormal reproductive system morphology	79947	DHDDS	OMIM:613861
HP:0012243	Abnormal reproductive system morphology	56623	INPP5E	ORPHA:75858
HP:0012243	Abnormal reproductive system morphology	56623	INPP5E	OMIM:610156
HP:0012243	Abnormal reproductive system morphology	84634	KISS1R	OMIM:614837
HP:0012243	Abnormal reproductive system morphology	84634	KISS1R	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	26012	NSMF	OMIM:614838
HP:0012243	Abnormal reproductive system morphology	26012	NSMF	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	1161	ERCC8	OMIM:216400
HP:0012243	Abnormal reproductive system morphology	10584	COLEC10	OMIM:248340
HP:0012243	Abnormal reproductive system morphology	6870	TACR3	OMIM:614840
HP:0012243	Abnormal reproductive system morphology	6870	TACR3	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	6870	TACR3	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	1889	ECE1	OMIM:613870
HP:0012243	Abnormal reproductive system morphology	3952	LEP	OMIM:614962
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	OMIM:614841
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	2688	GH1	OMIM:612781
HP:0012243	Abnormal reproductive system morphology	815	CAMK2A	OMIM:617798
HP:0012243	Abnormal reproductive system morphology	5015	OTX2	OMIM:610125
HP:0012243	Abnormal reproductive system morphology	79140	CCDC28B	OMIM:209900
HP:0012243	Abnormal reproductive system morphology	582	BBS1	OMIM:209900
HP:0012243	Abnormal reproductive system morphology	23116	TOGARAM1	OMIM:619185
HP:0012243	Abnormal reproductive system morphology	84823	LMNB2	OMIM:619180
HP:0012243	Abnormal reproductive system morphology	283987	HID1	OMIM:619983
HP:0012243	Abnormal reproductive system morphology	1656	DDX6	OMIM:618653
HP:0012243	Abnormal reproductive system morphology	132158	GLYCTK	OMIM:220120
HP:0012243	Abnormal reproductive system morphology	55148	UBR7	OMIM:619189
HP:0012243	Abnormal reproductive system morphology	558	AXL	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2798	GNRHR	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2798	GNRHR	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	10011	SRA1	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	55717	WDR11	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	55717	WDR11	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	55717	WDR11	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	8822	FGF17	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	8822	FGF17	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	8822	FGF17	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	1848	DUSP6	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	1848	DUSP6	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	1848	DUSP6	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	81848	SPRY4	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	81848	SPRY4	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	81848	SPRY4	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	285025	CCDC141	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	285025	CCDC141	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	389549	FEZF1	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	389549	FEZF1	OMIM:616030
HP:0012243	Abnormal reproductive system morphology	389549	FEZF1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	79813	EHMT1	OMIM:610253
HP:0012243	Abnormal reproductive system morphology	2783	GNB2	OMIM:619503
HP:0012243	Abnormal reproductive system morphology	63901	FAM111A	OMIM:602361
HP:0012243	Abnormal reproductive system morphology	253738	EBF3	OMIM:617330
HP:0012243	Abnormal reproductive system morphology	6905	TBCE	OMIM:241410
HP:0012243	Abnormal reproductive system morphology	8879	SGPL1	OMIM:617575
HP:0012243	Abnormal reproductive system morphology	79718	TBL1XR1	OMIM:602342
HP:0012243	Abnormal reproductive system morphology	5700	PSMC1	OMIM:620071
HP:0012243	Abnormal reproductive system morphology	79228	THOC6	ORPHA:363444
HP:0012243	Abnormal reproductive system morphology	11041	B4GAT1	OMIM:615287
HP:0012243	Abnormal reproductive system morphology	59336	PRDM13	OMIM:619761
HP:0012243	Abnormal reproductive system morphology	5591	PRKDC	OMIM:615966
HP:0012243	Abnormal reproductive system morphology	6925	TCF4	OMIM:610954
HP:0012243	Abnormal reproductive system morphology	6925	TCF4	ORPHA:2896
HP:0012243	Abnormal reproductive system morphology	51085	MLXIPL	OMIM:194050
HP:0012243	Abnormal reproductive system morphology	2006	ELN	OMIM:194050
HP:0012243	Abnormal reproductive system morphology	3911	LAMA5	OMIM:620076
HP:0012243	Abnormal reproductive system morphology	8242	KDM5C	OMIM:300534
HP:0012243	Abnormal reproductive system morphology	55120	FANCL	OMIM:614083
HP:0012243	Abnormal reproductive system morphology	9394	HS6ST1	OMIM:614880
HP:0012243	Abnormal reproductive system morphology	9394	HS6ST1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	9394	HS6ST1	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	10661	KLF1	OMIM:613673
HP:0012243	Abnormal reproductive system morphology	5781	PTPN11	OMIM:151100
HP:0012243	Abnormal reproductive system morphology	5426	POLE	OMIM:618336
HP:0012243	Abnormal reproductive system morphology	7319	UBE2A	ORPHA:163956
HP:0012243	Abnormal reproductive system morphology	7319	UBE2A	OMIM:300860
HP:0012243	Abnormal reproductive system morphology	10371	SEMA3A	OMIM:614897
HP:0012243	Abnormal reproductive system morphology	10371	SEMA3A	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	10535	RNASEH2A	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	84153	RNASEH2C	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	25939	SAMHD1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	79621	RNASEH2B	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	103	ADAR	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	11277	TREX1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	100147744	RNU7-1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	100147744	RNU7-1	OMIM:619487
HP:0012243	Abnormal reproductive system morphology	134353	LSM11	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	64135	IFIH1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	6792	CDKL5	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	3736	KCNA1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	9091	PIGQ	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2775	GNAO1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	81603	TRIM8	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2902	GRIN1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	79751	SLC25A22	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	150094	SIK1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	8573	CASK	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	23312	DMXL2	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2917	GRM7	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	11284	PNKP	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	6326	SCN2A	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	51227	PIGP	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	6324	SCN1B	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	4761	NEUROD2	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	23767	FLRT3	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	79625	NDNF	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	79625	NDNF	OMIM:618841
HP:0012243	Abnormal reproductive system morphology	1630	DCC	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	54756	IL17RD	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	6663	SOX10	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	60675	PROK2	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	60675	PROK2	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	60675	PROK2	OMIM:610628
HP:0012243	Abnormal reproductive system morphology	8820	HESX1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	10075	HUWE1	OMIM:309590
HP:0012243	Abnormal reproductive system morphology	2074	ERCC6	OMIM:133540
HP:0012243	Abnormal reproductive system morphology	6866	TAC3	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	3814	KISS1	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	10466	COG5	ORPHA:263487
HP:0012243	Abnormal reproductive system morphology	56896	DPYSL5	OMIM:619435
HP:0012243	Abnormal reproductive system morphology	2187	FANCB	OMIM:300514
HP:0012243	Abnormal reproductive system morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012243	Abnormal reproductive system morphology	54585	LZTFL1	OMIM:615994
HP:0012243	Abnormal reproductive system morphology	55593	OTUD5	OMIM:301056
HP:0012243	Abnormal reproductive system morphology	55315	SLC29A3	OMIM:602782
HP:0012243	Abnormal reproductive system morphology	55315	SLC29A3	ORPHA:168569
HP:0012243	Abnormal reproductive system morphology	113179	ADAT3	ORPHA:363528
HP:0012243	Abnormal reproductive system morphology	8882	ZPR1	OMIM:619321
HP:0012243	Abnormal reproductive system morphology	55784	MCTP2	ORPHA:1596
HP:0012243	Abnormal reproductive system morphology	1363	CPE	OMIM:619326
HP:0012243	Abnormal reproductive system morphology	29925	GMPPB	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	79147	FKRP	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	29954	POMT2	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	29954	POMT2	OMIM:613156
HP:0012243	Abnormal reproductive system morphology	9215	LARGE1	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	10585	POMT1	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	55777	MBD5	OMIM:156200
HP:0012243	Abnormal reproductive system morphology	8925	HERC1	ORPHA:457359
HP:0012243	Abnormal reproductive system morphology	51132	RLIM	OMIM:300978
HP:0012243	Abnormal reproductive system morphology	7874	USP7	OMIM:616863
HP:0012243	Abnormal reproductive system morphology	7874	USP7	ORPHA:500055
HP:0012243	Abnormal reproductive system morphology	1000	CDH2	OMIM:618929
HP:0012243	Abnormal reproductive system morphology	80311	KLHL15	OMIM:300982
HP:0012243	Abnormal reproductive system morphology	1641	DCX	OMIM:300067
HP:0012243	Abnormal reproductive system morphology	7317	UBA1	OMIM:301830
HP:0012243	Abnormal reproductive system morphology	5277	PIGA	OMIM:300868
HP:0012243	Abnormal reproductive system morphology	55210	ATAD3A	OMIM:618810
HP:0012243	Abnormal reproductive system morphology	79633	FAT4	OMIM:615546
HP:0012243	Abnormal reproductive system morphology	57187	THOC2	ORPHA:457240
HP:0012243	Abnormal reproductive system morphology	4990	SIX6	OMIM:206900
HP:0012243	Abnormal reproductive system morphology	6657	SOX2	OMIM:206900
HP:0012243	Abnormal reproductive system morphology	26160	IFT172	OMIM:619471
HP:0012243	Abnormal reproductive system morphology	9851	KIAA0753	OMIM:619479
HP:0012243	Abnormal reproductive system morphology	2892	GRIA3	ORPHA:364028
HP:0012243	Abnormal reproductive system morphology	340419	RSPO2	OMIM:618021
HP:0012243	Abnormal reproductive system morphology	7737	RNF113A	OMIM:300953
HP:0012243	Abnormal reproductive system morphology	6711	SPTBN1	OMIM:619475
HP:0012243	Abnormal reproductive system morphology	6608	SMO	OMIM:241800
HP:0012243	Abnormal reproductive system morphology	80036	TRPM3	OMIM:620224
HP:0012243	Abnormal reproductive system morphology	2132	EXT2	ORPHA:52022
HP:0012243	Abnormal reproductive system morphology	51317	PHF21A	ORPHA:52022
HP:0012243	Abnormal reproductive system morphology	8567	MADD	OMIM:619004
HP:0012243	Abnormal reproductive system morphology	8567	MADD	OMIM:619005
HP:0012243	Abnormal reproductive system morphology	202018	TAPT1	OMIM:616897
HP:0012243	Abnormal reproductive system morphology	2177	FANCD2	OMIM:227646
HP:0012243	Abnormal reproductive system morphology	4047	LSS	OMIM:618840
HP:0012243	Abnormal reproductive system morphology	23247	KATNIP	OMIM:616784
HP:0012243	Abnormal reproductive system morphology	7518	XRCC4	OMIM:616541
HP:0012243	Abnormal reproductive system morphology	9786	KIAA0586	OMIM:616546
HP:0012243	Abnormal reproductive system morphology	5718	PSMD12	OMIM:617516
HP:0012243	Abnormal reproductive system morphology	523	ATP6V1A	OMIM:617403
HP:0012243	Abnormal reproductive system morphology	529	ATP6V1E1	OMIM:617402
HP:0012243	Abnormal reproductive system morphology	8085	KMT2D	OMIM:147920
HP:0012243	Abnormal reproductive system morphology	7403	KDM6A	OMIM:147920
HP:0012243	Abnormal reproductive system morphology	3981	LIG4	ORPHA:235
HP:0012243	Abnormal reproductive system morphology	54888	NSUN2	ORPHA:235
HP:0012243	Abnormal reproductive system morphology	5144	PDE4D	ORPHA:950
HP:0012243	Abnormal reproductive system morphology	5116	PCNT	ORPHA:2637
HP:0012243	Abnormal reproductive system morphology	5590	PRKCZ	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	2563	GABRD	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	23013	SPEN	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	8510	MMP23B	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	7798	LUZP1	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	6497	SKI	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	10630	PDPN	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	10277	UBE4B	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	8514	KCNAB2	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	473	RERE	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	63976	PRDM16	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	54897	CASZ1	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	6888	TALDO1	ORPHA:101028
HP:0012243	Abnormal reproductive system morphology	23476	BRD4	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	9126	SMC3	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	8243	SMC1A	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	25836	NIPBL	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	25836	NIPBL	OMIM:122470
HP:0012243	Abnormal reproductive system morphology	55869	HDAC8	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	5885	RAD21	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	10664	CTCF	ORPHA:363611
HP:0012243	Abnormal reproductive system morphology	2100	ESR2	OMIM:618187
HP:0012243	Abnormal reproductive system morphology	29957	SLC25A24	OMIM:612289
HP:0012243	Abnormal reproductive system morphology	8626	TP63	OMIM:129400
HP:0012243	Abnormal reproductive system morphology	9896	FIG4	ORPHA:3472
HP:0012243	Abnormal reproductive system morphology	55697	VAC14	ORPHA:3472
HP:0012243	Abnormal reproductive system morphology	89910	UBE3B	OMIM:244450
HP:0012243	Abnormal reproductive system morphology	9427	ECEL1	OMIM:615065
HP:0012243	Abnormal reproductive system morphology	4920	ROR2	OMIM:268310
HP:0012243	Abnormal reproductive system morphology	145173	B3GLCT	OMIM:261540
HP:0012243	Abnormal reproductive system morphology	145173	B3GLCT	ORPHA:709
HP:0012243	Abnormal reproductive system morphology	25886	POC1A	OMIM:614813
HP:0012243	Abnormal reproductive system morphology	7148	TNXB	OMIM:606408
HP:0012243	Abnormal reproductive system morphology	6913	TBX15	OMIM:260660
HP:0012243	Abnormal reproductive system morphology	1588	CYP19A1	ORPHA:91
HP:0012243	Abnormal reproductive system morphology	2737	GLI3	ORPHA:672
HP:0012243	Abnormal reproductive system morphology	2737	GLI3	ORPHA:93322
HP:0012243	Abnormal reproductive system morphology	6658	SOX3	ORPHA:393
HP:0012243	Abnormal reproductive system morphology	341640	FREM2	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	341640	FREM2	OMIM:617666
HP:0012243	Abnormal reproductive system morphology	80144	FRAS1	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	23426	GRIP1	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	28981	IFT81	OMIM:617895
HP:0012243	Abnormal reproductive system morphology	4750	NEK1	OMIM:263520
HP:0012243	Abnormal reproductive system morphology	7026	NR2F2	OMIM:618901
HP:0012243	Abnormal reproductive system morphology	2908	NR3C1	ORPHA:786
HP:0012243	Abnormal reproductive system morphology	81839	VANGL1	ORPHA:3027
HP:0012243	Abnormal reproductive system morphology	80199	FUZ	ORPHA:3027
HP:0012243	Abnormal reproductive system morphology	55112	DYNC2I1	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	55112	DYNC2I1	OMIM:615503
HP:0012243	Abnormal reproductive system morphology	57560	IFT80	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	57539	WDR35	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	79659	DYNC2H1	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	79659	DYNC2H1	OMIM:613091
HP:0012243	Abnormal reproductive system morphology	89891	DYNC2I2	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	117581	TWIST2	OMIM:200110
HP:0012243	Abnormal reproductive system morphology	117581	TWIST2	ORPHA:920
HP:0012243	Abnormal reproductive system morphology	1646	AKR1C2	OMIM:614279
HP:0012243	Abnormal reproductive system morphology	1109	AKR1C4	OMIM:614279
HP:0012243	Abnormal reproductive system morphology	54101	RIPK4	ORPHA:1234
HP:0012243	Abnormal reproductive system morphology	54101	RIPK4	OMIM:263650
HP:0012243	Abnormal reproductive system morphology	22858	CILK1	OMIM:612651
HP:0012243	Abnormal reproductive system morphology	1717	DHCR7	ORPHA:818
HP:0012243	Abnormal reproductive system morphology	1717	DHCR7	OMIM:270400
HP:0012243	Abnormal reproductive system morphology	1584	CYP11B1	ORPHA:90795
HP:0012243	Abnormal reproductive system morphology	170302	ARX	ORPHA:452
HP:0012243	Abnormal reproductive system morphology	170302	ARX	OMIM:300215
HP:0012243	Abnormal reproductive system morphology	2260	FGFR1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	28514	DLL1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2253	FGF8	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	6496	SIX3	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7050	TGIF1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	4838	NODAL	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	6469	SHH	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	51684	SUFU	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7546	ZIC2	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2619	GAS1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	84976	DISP1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2736	GLI2	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	8928	FOXH1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	5727	PTCH1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	50937	CDON	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7259	TSPYL1	ORPHA:168593
HP:0012243	Abnormal reproductive system morphology	1108	CHD4	OMIM:617159
HP:0012243	Abnormal reproductive system morphology	27077	B9D1	OMIM:614209
HP:0012243	Abnormal reproductive system morphology	27077	B9D1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	546	ATRX	ORPHA:847
HP:0012243	Abnormal reproductive system morphology	84314	TMEM107	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79867	TCTN2	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79867	TCTN2	OMIM:613885
HP:0012243	Abnormal reproductive system morphology	80776	B9D2	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79600	TCTN1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	57096	RPGRIP1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79848	CSPP1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	80184	CEP290	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	51259	TMEM216	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	57545	CC2D2A	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79583	TMEM231	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	91147	TMEM67	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79770	TXNDC15	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79770	TXNDC15	OMIM:619879
HP:0012243	Abnormal reproductive system morphology	23322	RPGRIP1L	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	65062	TMEM237	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	9184	BUB3	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	699	BUB1	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	9702	CEP57	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	9319	TRIP13	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	701	BUB1B	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	701	BUB1B	OMIM:257300
HP:0012243	Abnormal reproductive system morphology	3293	HSD17B3	ORPHA:752
HP:0012243	Abnormal reproductive system morphology	348180	CTU2	OMIM:618142
HP:0012243	Abnormal reproductive system morphology	95681	CEP41	OMIM:614464
HP:0012243	Abnormal reproductive system morphology	150468	CKAP2L	OMIM:272440
HP:0012243	Abnormal reproductive system morphology	526	ATP6V1B2	ORPHA:79500
HP:0012243	Abnormal reproductive system morphology	57465	TBC1D24	ORPHA:79500
HP:0012243	Abnormal reproductive system morphology	1718	DHCR24	ORPHA:35107
HP:0012243	Abnormal reproductive system morphology	374879	ZNF699	OMIM:619488
HP:0012243	Abnormal reproductive system morphology	2232	FDXR	ORPHA:543470
HP:0012243	Abnormal reproductive system morphology	10293	TRAIP	OMIM:616777
HP:0012243	Abnormal reproductive system morphology	5080	PAX6	ORPHA:893
HP:0012243	Abnormal reproductive system morphology	627	BDNF	ORPHA:893
HP:0012243	Abnormal reproductive system morphology	153241	CEP120	OMIM:616300
HP:0012243	Abnormal reproductive system morphology	3664	IRF6	ORPHA:1300
HP:0012243	Abnormal reproductive system morphology	3239	HOXD13	ORPHA:887
HP:0012243	Abnormal reproductive system morphology	29893	PSMC3IP	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	171568	POLR3H	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	125150	ZSWIM7	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	9210	BMP15	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	57122	NUP107	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	23514	SPIDR	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	2492	FSHR	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	56945	MRPS22	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	646	BNC1	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	1586	CYP17A1	OMIM:202110
HP:0012243	Abnormal reproductive system morphology	5087	PBX1	OMIM:617641
HP:0012243	Abnormal reproductive system morphology	6716	SRD5A2	ORPHA:753
HP:0012243	Abnormal reproductive system morphology	471	ATIC	ORPHA:250977
HP:0012243	Abnormal reproductive system morphology	471	ATIC	OMIM:608688
HP:0012243	Abnormal reproductive system morphology	2571	GAD1	OMIM:619124
HP:0012243	Abnormal reproductive system morphology	4998	ORC1	OMIM:224690
HP:0012243	Abnormal reproductive system morphology	4998	ORC1	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	1857	DVL3	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	7474	WNT5A	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	1855	DVL1	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	22931	RAB18	OMIM:614222
HP:0012243	Abnormal reproductive system morphology	22931	RAB18	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	60	ACTB	ORPHA:64755
HP:0012243	Abnormal reproductive system morphology	26040	SETBP1	OMIM:269150
HP:0012243	Abnormal reproductive system morphology	23594	ORC6	OMIM:613803
HP:0012243	Abnormal reproductive system morphology	23594	ORC6	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	81620	CDT1	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	8318	CDC45	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	990	CDC6	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	51053	GMNN	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	128637	TBC1D20	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	57061	HYMAI	ORPHA:96191
HP:0012243	Abnormal reproductive system morphology	5325	PLAGL1	ORPHA:96191
HP:0012243	Abnormal reproductive system morphology	2535	FZD2	OMIM:164745
HP:0012243	Abnormal reproductive system morphology	10236	HNRNPR	OMIM:620073
HP:0012243	Abnormal reproductive system morphology	6595	SMARCA2	OMIM:619293
HP:0012243	Abnormal reproductive system morphology	64840	PORCN	OMIM:305600
HP:0012243	Abnormal reproductive system morphology	367	AR	OMIM:300068
HP:0012243	Abnormal reproductive system morphology	5447	POR	OMIM:201750
HP:0012243	Abnormal reproductive system morphology	92002	CCNQ	ORPHA:140952
HP:0012243	Abnormal reproductive system morphology	92002	CCNQ	OMIM:300707
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B	OMIM:606170
HP:0012243	Abnormal reproductive system morphology	5000	ORC4	OMIM:613800
HP:0012243	Abnormal reproductive system morphology	9723	SEMA3E	ORPHA:138
HP:0012243	Abnormal reproductive system morphology	80000	GREB1L	OMIM:617805
HP:0012243	Abnormal reproductive system morphology	56652	TWNK	OMIM:616138
HP:0012243	Abnormal reproductive system morphology	3295	HSD17B4	OMIM:233400
HP:0012243	Abnormal reproductive system morphology	26227	PHGDH	OMIM:256520
HP:0012243	Abnormal reproductive system morphology	4609	MYC	ORPHA:543
HP:0012243	Abnormal reproductive system morphology	5340	PLG	ORPHA:722
HP:0012243	Abnormal reproductive system morphology	5295	PIK3R1	OMIM:269880
HP:0012243	Abnormal reproductive system morphology	55503	TRPV6	OMIM:618188
HP:0012243	Abnormal reproductive system morphology	2155	F7	ORPHA:327
HP:0012243	Abnormal reproductive system morphology	4437	MSH3	OMIM:617100
HP:0012243	Abnormal reproductive system morphology	1277	COL1A1	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	1289	COL5A1	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	1290	COL5A2	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	4088	SMAD3	ORPHA:284984
HP:0012243	Abnormal reproductive system morphology	4088	SMAD3	OMIM:613795
HP:0012243	Abnormal reproductive system morphology	6197	RPS6KA3	OMIM:303600
HP:0012243	Abnormal reproductive system morphology	84818	IL17RC	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	64581	CLEC7A	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	23765	IL17RA	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	112744	IL17F	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	9361	LONP1	OMIM:600373
HP:0012243	Abnormal reproductive system morphology	57167	SALL4	OMIM:147750
HP:0012243	Abnormal reproductive system morphology	57167	SALL4	ORPHA:2307
HP:0012243	Abnormal reproductive system morphology	3588	IL10RB	OMIM:612567
HP:0012243	Abnormal reproductive system morphology	10653	SPINT2	OMIM:270420
HP:0012243	Abnormal reproductive system morphology	9401	RECQL4	OMIM:218600
HP:0012243	Abnormal reproductive system morphology	1642	DDB1	OMIM:619426
HP:0012243	Abnormal reproductive system morphology	3718	JAK3	ORPHA:35078
HP:0012243	Abnormal reproductive system morphology	158326	FREM1	OMIM:608980
HP:0012243	Abnormal reproductive system morphology	5297	PI4KA	OMIM:619708
HP:0012243	Abnormal reproductive system morphology	3991	LIPE	ORPHA:435660
HP:0012243	Abnormal reproductive system morphology	4519	MT-CYB	ORPHA:137675
HP:0012243	Abnormal reproductive system morphology	2321	FLT1	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	219736	STOX1	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	10699	CORIN	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	6804	STX1A	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	7461	CLIP2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	84277	DNAJC30	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	5982	RFC2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	2969	GTF2I	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	3984	LIMK1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	155382	VPS37D	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	155368	METTL27	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	114049	BUD23	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	7458	EIF4H	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	9275	BCL7B	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	26608	TBL2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	653361	NCF1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	135886	TMEM270	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	9031	BAZ1B	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	118429	ANTXR2	ORPHA:2176
HP:0012243	Abnormal reproductive system morphology	5346	PLIN1	ORPHA:280356
HP:0012243	Abnormal reproductive system morphology	63924	CIDEC	ORPHA:435651
HP:0012243	Abnormal reproductive system morphology	6927	HNF1A	OMIM:142330
HP:0012243	Abnormal reproductive system morphology	668	FOXL2	ORPHA:572333
HP:0012243	Abnormal reproductive system morphology	2542	SLC37A4	ORPHA:79259
HP:0012243	Abnormal reproductive system morphology	208	AKT2	ORPHA:79085
HP:0012243	Abnormal reproductive system morphology	5257	PHKB	ORPHA:79240
HP:0012243	Abnormal reproductive system morphology	4313	MMP2	ORPHA:371428
HP:0012243	Abnormal reproductive system morphology	4323	MMP14	ORPHA:371428
HP:0012243	Abnormal reproductive system morphology	5256	PHKA2	ORPHA:264580
HP:0012243	Abnormal reproductive system morphology	5261	PHKG2	ORPHA:264580
HP:0012243	Abnormal reproductive system morphology	24145	PANX1	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	494551	WEE2	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	197135	PATL2	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	347688	TUBB8	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	4487	MSX1	ORPHA:2228
HP:0012243	Abnormal reproductive system morphology	9928	KIF14	OMIM:616258
HP:0012243	Abnormal reproductive system morphology	9928	KIF14	OMIM:617914
HP:0012243	Abnormal reproductive system morphology	9939	RBM8A	ORPHA:3320
HP:0012243	Abnormal reproductive system morphology	9939	RBM8A	OMIM:274000
HP:0012243	Abnormal reproductive system morphology	5518	PPP2R1A	ORPHA:457284
HP:0012243	Abnormal reproductive system morphology	101929726	MYMX	ORPHA:1358
HP:0012243	Abnormal reproductive system morphology	283120	H19	ORPHA:231140
HP:0012243	Abnormal reproductive system morphology	3782	KCNN3	ORPHA:3473
HP:0012243	Abnormal reproductive system morphology	1585	CYP11B2	ORPHA:556030
HP:0012243	Abnormal reproductive system morphology	10262	SF3B4	OMIM:154400
HP:0012243	Abnormal reproductive system morphology	64220	STRA6	OMIM:601186
HP:0012243	Abnormal reproductive system morphology	4036	LRP2	OMIM:222448
HP:0012243	Abnormal reproductive system morphology	4036	LRP2	ORPHA:2143
HP:0012243	Abnormal reproductive system morphology	79796	ALG9	ORPHA:79328
HP:0012243	Abnormal reproductive system morphology	79796	ALG9	OMIM:263210
HP:0012243	Abnormal reproductive system morphology	8516	ITGA8	OMIM:191830
HP:0012243	Abnormal reproductive system morphology	23395	LARS2	OMIM:615300
HP:0012243	Abnormal reproductive system morphology	5915	RARB	OMIM:615524
HP:0012243	Abnormal reproductive system morphology	2255	FGF10	ORPHA:2363
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	ORPHA:261537
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	ORPHA:261552
HP:0012243	Abnormal reproductive system morphology	197131	UBR1	OMIM:243800
HP:0012243	Abnormal reproductive system morphology	54880	BCOR	OMIM:300166
HP:0012243	Abnormal reproductive system morphology	2625	GATA3	ORPHA:2237
HP:0012243	Abnormal reproductive system morphology	2625	GATA3	OMIM:146255
HP:0012243	Abnormal reproductive system morphology	27152	INTU	OMIM:617925
HP:0012243	Abnormal reproductive system morphology	3110	MNX1	OMIM:176450
HP:0012243	Abnormal reproductive system morphology	7355	SLC35A2	OMIM:300896
HP:0012243	Abnormal reproductive system morphology	55612	FERMT1	OMIM:173650
HP:0012243	Abnormal reproductive system morphology	55612	FERMT1	ORPHA:2908
HP:0012243	Abnormal reproductive system morphology	6714	SRC	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	201163	FLCN	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	10395	DLC1	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	8313	AXIN2	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5782	PTPN12	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5320	PLA2G2A	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	6790	AURKA	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	581	BAX	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	25788	RAD54B	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	7097	TLR2	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	1499	CTNNB1	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	4163	MCC	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5157	PDGFRL	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5795	PTPRJ	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	242	ALOX12B	OMIM:242100
HP:0012243	Abnormal reproductive system morphology	59344	ALOXE3	OMIM:242100
HP:0012243	Abnormal reproductive system morphology	23347	SMCHD1	ORPHA:2250
HP:0012243	Abnormal reproductive system morphology	11020	IFT27	OMIM:615996
HP:0012243	Abnormal reproductive system morphology	10806	SDCCAG8	OMIM:615993
HP:0012243	Abnormal reproductive system morphology	9791	PTDSS1	ORPHA:2658
HP:0012243	Abnormal reproductive system morphology	23314	SATB2	ORPHA:251028
HP:0012243	Abnormal reproductive system morphology	8818	DPM2	ORPHA:329178
HP:0012243	Abnormal reproductive system morphology	80152	CENPT	OMIM:618702
HP:0012243	Abnormal reproductive system morphology	5189	PEX1	ORPHA:3220
HP:0012243	Abnormal reproductive system morphology	5190	PEX6	ORPHA:3220
HP:0012243	Abnormal reproductive system morphology	7681	MKRN3	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	3653	IPW	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:398069
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	791114	PWRN1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	8924	HERC2	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	145624	PWAR1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	23742	NPAP1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	338433	SNORD115-1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	51715	RAB23	OMIM:201000
HP:0012243	Abnormal reproductive system morphology	51715	RAB23	ORPHA:65759
HP:0012243	Abnormal reproductive system morphology	51124	IER3IP1	OMIM:614231
HP:0012243	Abnormal reproductive system morphology	6492	SIM1	ORPHA:398079
HP:0012243	Abnormal reproductive system morphology	57492	ARID1B	ORPHA:251056
HP:0012243	Abnormal reproductive system morphology	7841	MOGS	ORPHA:79330
HP:0012243	Abnormal reproductive system morphology	388015	RTL1	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	8788	DLK1	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	55384	MEG3	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177907
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	5889	RAD51C	OMIM:613390
HP:0012243	Abnormal reproductive system morphology	22930	RAB3GAP1	OMIM:600118
HP:0012243	Abnormal reproductive system morphology	1968	EIF2S3	ORPHA:85282
HP:0012243	Abnormal reproductive system morphology	284654	RSPO1	OMIM:610644
HP:0012243	Abnormal reproductive system morphology	8813	DPM1	ORPHA:79322
HP:0012243	Abnormal reproductive system morphology	84100	ARL6	OMIM:600151
HP:0012243	Abnormal reproductive system morphology	54903	MKS1	OMIM:249000
HP:0012243	Abnormal reproductive system morphology	583	BBS2	OMIM:615981
HP:0012243	Abnormal reproductive system morphology	585	BBS4	OMIM:615982
HP:0012243	Abnormal reproductive system morphology	129880	BBS5	OMIM:615983
HP:0012243	Abnormal reproductive system morphology	55636	CHD7	OMIM:214800
HP:0012243	Abnormal reproductive system morphology	1954	MEGF8	ORPHA:65759
HP:0012243	Abnormal reproductive system morphology	8195	MKKS	OMIM:605231
HP:0012243	Abnormal reproductive system morphology	64374	SIL1	ORPHA:559
HP:0012243	Abnormal reproductive system morphology	51763	INPP5K	ORPHA:559
HP:0012243	Abnormal reproductive system morphology	4089	SMAD4	ORPHA:2588
HP:0012243	Abnormal reproductive system morphology	3187	HNRNPH1	OMIM:620083
HP:0012243	Abnormal reproductive system morphology	57724	EPG5	OMIM:242840
HP:0012243	Abnormal reproductive system morphology	10046	MAMLD1	ORPHA:456328
HP:0012243	Abnormal reproductive system morphology	4534	MTM1	ORPHA:456328
HP:0012243	Abnormal reproductive system morphology	2263	FGFR2	ORPHA:1555
HP:0012243	Abnormal reproductive system morphology	2263	FGFR2	OMIM:123790
HP:0012243	Abnormal reproductive system morphology	3643	INSR	ORPHA:508
HP:0012243	Abnormal reproductive system morphology	5468	PPARG	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	10555	AGPAT2	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	284119	CAVIN1	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	26580	BSCL2	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	2353	FOS	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	857	CAV1	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	1028	CDKN1C	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	3784	KCNQ1	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	7128	TNFAIP3	OMIM:616744
HP:0012243	Abnormal reproductive system morphology	64421	DCLRE1C	OMIM:602450
HP:0012243	Abnormal reproductive system morphology	5077	PAX3	OMIM:193500
HP:0012243	Abnormal reproductive system morphology	8312	AXIN1	OMIM:607864
HP:0012243	Abnormal reproductive system morphology	6650	CAPN15	OMIM:619318
HP:0012243	Abnormal reproductive system morphology	10225	CD96	OMIM:211750
HP:0012243	Abnormal reproductive system morphology	2099	ESR1	ORPHA:785
HP:0012243	Abnormal reproductive system morphology	3476	IGBP1	OMIM:300472
HP:0012243	Abnormal reproductive system morphology	2245	FGD1	OMIM:305400
HP:0012243	Abnormal reproductive system morphology	6134	RPL10	OMIM:300998
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	OMIM:180849
HP:0012243	Abnormal reproductive system morphology	2033	EP300	OMIM:180849
HP:0012243	Abnormal reproductive system morphology	26137	ZBTB20	OMIM:259050
HP:0012243	Abnormal reproductive system morphology	26137	ZBTB20	ORPHA:3042
HP:0012243	Abnormal reproductive system morphology	55610	VPS50	OMIM:619685
HP:0012243	Abnormal reproductive system morphology	2222	FDFT1	OMIM:618156
HP:0012243	Abnormal reproductive system morphology	4953	ODC1	ORPHA:544488
HP:0012243	Abnormal reproductive system morphology	7291	TWIST1	OMIM:617746
HP:0012243	Abnormal reproductive system morphology	50485	SMARCAL1	OMIM:242900
HP:0012243	Abnormal reproductive system morphology	10667	FARS2	ORPHA:466722
HP:0012243	Abnormal reproductive system morphology	4841	NONO	ORPHA:466791
HP:0012243	Abnormal reproductive system morphology	55870	ASH1L	OMIM:617796
HP:0012243	Abnormal reproductive system morphology	10606	PAICS	OMIM:619859
HP:0012243	Abnormal reproductive system morphology	7994	KAT6A	OMIM:616268
HP:0012243	Abnormal reproductive system morphology	5648	MASP1	ORPHA:293843
HP:0012243	Abnormal reproductive system morphology	78989	COLEC11	ORPHA:293843
HP:0012243	Abnormal reproductive system morphology	10210	TOPORS	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	5147	PDE6D	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	65250	CPLANE1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	8481	OFD1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	317662	FAM149B1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	404672	GTF2H5	OMIM:616395
HP:0012243	Abnormal reproductive system morphology	22884	WDR37	OMIM:618652
HP:0012243	Abnormal reproductive system morphology	4174	MCM5	OMIM:617564
HP:0012243	Abnormal reproductive system morphology	80067	DCAF17	OMIM:241080
HP:0012243	Abnormal reproductive system morphology	80067	DCAF17	ORPHA:3464
HP:0012243	Abnormal reproductive system morphology	50846	DHH	OMIM:233420
HP:0012243	Abnormal reproductive system morphology	4081	MAB21L1	OMIM:618479
HP:0012243	Abnormal reproductive system morphology	164045	HFM1	OMIM:615724
HP:0012243	Abnormal reproductive system morphology	135935	NOBOX	OMIM:611548
HP:0012243	Abnormal reproductive system morphology	3763	KCNJ6	ORPHA:435628
HP:0012243	Abnormal reproductive system morphology	84515	MCM8	OMIM:612885
HP:0012243	Abnormal reproductive system morphology	9150	CTDP1	OMIM:604168
HP:0012243	Abnormal reproductive system morphology	140801	RPL10L	OMIM:619689
HP:0012243	Abnormal reproductive system morphology	79184	BRCC3	ORPHA:280679
HP:0012243	Abnormal reproductive system morphology	55630	SLC39A4	OMIM:201100
HP:0012243	Abnormal reproductive system morphology	56154	TEX15	OMIM:617960
HP:0012243	Abnormal reproductive system morphology	56154	TEX15	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	3953	LEPR	ORPHA:179494
HP:0012243	Abnormal reproductive system morphology	5626	PROP1	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	5626	PROP1	ORPHA:90695
HP:0012243	Abnormal reproductive system morphology	3170	FOXA2	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	5449	POU1F1	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	154197	PNLDC1	OMIM:619528
HP:0012243	Abnormal reproductive system morphology	154197	PNLDC1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	6875	TAF4B	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	56155	TEX14	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	254528	MEIOB	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	1080	CFTR	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	84225	ZMYND15	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	93426	SYCE1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	50511	SYCP3	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	5373	PMM2	ORPHA:79318
HP:0012243	Abnormal reproductive system morphology	5396	PRRX1	ORPHA:990
HP:0012243	Abnormal reproductive system morphology	5048	PAFAH1B1	ORPHA:217385
HP:0012243	Abnormal reproductive system morphology	7531	YWHAE	ORPHA:217385
HP:0012243	Abnormal reproductive system morphology	2690	GHR	ORPHA:633
HP:0012243	Abnormal reproductive system morphology	23438	HARS2	OMIM:614926
HP:0012243	Abnormal reproductive system morphology	392255	GDF6	OMIM:613094
HP:0012243	Abnormal reproductive system morphology	64218	SEMA4A	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	657	BMPR1A	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	6224	RPS20	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	4665	NAB2	ORPHA:2126
HP:0012243	Abnormal reproductive system morphology	6778	STAT6	ORPHA:2126
HP:0012243	Abnormal reproductive system morphology	2313	FLI1	ORPHA:370348
HP:0012243	Abnormal reproductive system morphology	1288	COL4A6	ORPHA:1018
HP:0012243	Abnormal reproductive system morphology	1287	COL4A5	ORPHA:1018
HP:0012243	Abnormal reproductive system morphology	79577	CDC73	ORPHA:143
HP:0012243	Abnormal reproductive system morphology	79577	CDC73	ORPHA:99880
HP:0012243	Abnormal reproductive system morphology	284058	KANSL1	ORPHA:363965
HP:0012243	Abnormal reproductive system morphology	284058	KANSL1	ORPHA:363958
HP:0012243	Abnormal reproductive system morphology	2130	EWSR1	ORPHA:83469
HP:0012243	Abnormal reproductive system morphology	5566	PRKACA	ORPHA:189439
HP:0012243	Abnormal reproductive system morphology	8622	PDE8B	ORPHA:189439
HP:0012243	Abnormal reproductive system morphology	5573	PRKAR1A	ORPHA:189439
HP:0012243	Abnormal reproductive system morphology	5573	PRKAR1A	ORPHA:1359
HP:0012243	Abnormal reproductive system morphology	50940	PDE11A	ORPHA:189439
HP:0012243	Abnormal reproductive system morphology	50940	PDE11A	ORPHA:1359
HP:0012243	Abnormal reproductive system morphology	412	STS	OMIM:308100
HP:0012243	Abnormal reproductive system morphology	7157	TP53	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	1029	CDKN2A	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	4193	MDM2	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	11200	CHEK2	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	6611	SMS	ORPHA:3063
HP:0012243	Abnormal reproductive system morphology	3972	LHB	OMIM:228300
HP:0012243	Abnormal reproductive system morphology	2778	GNAS	ORPHA:562
HP:0012243	Abnormal reproductive system morphology	4292	MLH1	ORPHA:587
HP:0012243	Abnormal reproductive system morphology	2956	MSH6	ORPHA:587
HP:0012243	Abnormal reproductive system morphology	2956	MSH6	OMIM:614350
HP:0012243	Abnormal reproductive system morphology	2956	MSH6	OMIM:608089
HP:0012243	Abnormal reproductive system morphology	4436	MSH2	ORPHA:587
HP:0012243	Abnormal reproductive system morphology	388662	SLC6A17	ORPHA:457212
HP:0012243	Abnormal reproductive system morphology	5424	POLD1	OMIM:612591
HP:0012243	Abnormal reproductive system morphology	5424	POLD1	ORPHA:447877
HP:0012243	Abnormal reproductive system morphology	4072	EPCAM	OMIM:613244
HP:0012243	Abnormal reproductive system morphology	5395	PMS2	OMIM:614337
HP:0012243	Abnormal reproductive system morphology	27030	MLH3	OMIM:608089
HP:0012243	Abnormal reproductive system morphology	5892	RAD51D	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	10111	RAD50	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	580	BARD1	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	4683	NBN	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	4361	MRE11	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	2048	EPHB2	OMIM:603688
HP:0012243	Abnormal reproductive system morphology	463	ZFHX3	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	1316	KLF6	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	999	CDH1	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	4601	MXI1	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	8379	MAD1L1	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	54894	RNF43	ORPHA:157798
HP:0012243	Abnormal reproductive system morphology	6041	RNASEL	OMIM:601518
HP:0012243	Abnormal reproductive system morphology	26585	GREM1	ORPHA:157794
HP:0012243	Abnormal reproductive system morphology	2304	FOXE1	OMIM:616534
HP:0012243	Abnormal reproductive system morphology	4913	NTHL1	OMIM:616415
HP:0012243	Abnormal reproductive system morphology	324	APC	ORPHA:79665
HP:0012243	Abnormal reproductive system morphology	7373	COL14A1	ORPHA:79501
HP:0012243	Abnormal reproductive system morphology	79719	AAGAB	ORPHA:79501
HP:0012243	Abnormal reproductive system morphology	84660	CCDC62	OMIM:619803
HP:0012243	Abnormal reproductive system morphology	199720	GGN	OMIM:619826
HP:0012243	Abnormal reproductive system morphology	151254	C2CD6	OMIM:619805
HP:0012243	Abnormal reproductive system morphology	11055	ZPBP	OMIM:619799
HP:0012243	Abnormal reproductive system morphology	283417	DPY19L2	OMIM:613958
HP:0012243	Abnormal reproductive system morphology	83893	SPATA16	OMIM:102530
HP:0012243	Abnormal reproductive system morphology	10568	SLC34A2	ORPHA:60025
HP:0012243	Abnormal reproductive system morphology	56244	BTNL2	ORPHA:797
HP:0012243	Abnormal reproductive system morphology	3123	HLA-DRB1	ORPHA:797
HP:0012243	Abnormal reproductive system morphology	51574	LARP7	OMIM:615071
HP:0012243	Abnormal reproductive system morphology	6904	TBCD	OMIM:617193
HP:0012243	Abnormal reproductive system morphology	64132	XYLT2	OMIM:605822
HP:0012243	Abnormal reproductive system morphology	745	MYRF	OMIM:618280
HP:0012243	Abnormal reproductive system morphology	4784	NFIX	ORPHA:447980
HP:0012243	Abnormal reproductive system morphology	104	ADARB1	OMIM:618862
HP:0012243	Abnormal reproductive system morphology	90121	TSR2	OMIM:300946
HP:0012243	Abnormal reproductive system morphology	4781	NFIB	OMIM:618286
HP:0012243	Abnormal reproductive system morphology	51111	KMT5B	OMIM:617788
HP:0012243	Abnormal reproductive system morphology	3481	IGF2	OMIM:616489
HP:0012243	Abnormal reproductive system morphology	83479	DDX59	OMIM:174300
HP:0012243	Abnormal reproductive system morphology	6736	SRY	ORPHA:1772
HP:0012243	Abnormal reproductive system morphology	84282	RNF135	ORPHA:137634
HP:0012243	Abnormal reproductive system morphology	64093	SMOC1	OMIM:206920
HP:0012243	Abnormal reproductive system morphology	25942	SIN3A	OMIM:613406
HP:0012243	Abnormal reproductive system morphology	3640	INSL3	OMIM:219050
HP:0012243	Abnormal reproductive system morphology	64359	NXN	ORPHA:1507
HP:0012243	Abnormal reproductive system morphology	5881	RAC3	OMIM:618577
HP:0012243	Abnormal reproductive system morphology	3284	HSD3B2	OMIM:201810
HP:0012243	Abnormal reproductive system morphology	1528	CYB5A	OMIM:250790
HP:0012243	Abnormal reproductive system morphology	1583	CYP11A1	ORPHA:289548
HP:0012243	Abnormal reproductive system morphology	1583	CYP11A1	ORPHA:168558
HP:0012243	Abnormal reproductive system morphology	56983	POGLUT1	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	3852	KRT5	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	23509	POFUT1	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	55851	PSENEN	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	114034	TOE1	ORPHA:284339
HP:0012243	Abnormal reproductive system morphology	9562	MINPP1	ORPHA:284339
HP:0012243	Abnormal reproductive system morphology	7840	ALMS1	ORPHA:64
HP:0012243	Abnormal reproductive system morphology	54361	WNT4	OMIM:611812
HP:0012243	Abnormal reproductive system morphology	1349	COX7B	OMIM:309801
HP:0012243	Abnormal reproductive system morphology	3052	HCCS	OMIM:309801
HP:0012243	Abnormal reproductive system morphology	54539	NDUFB11	OMIM:309801
HP:0012243	Abnormal reproductive system morphology	317719	KLHL10	OMIM:615081
HP:0012243	Abnormal reproductive system morphology	124404	SEPTIN12	OMIM:614822
HP:0012243	Abnormal reproductive system morphology	57704	GBA2	ORPHA:320391
HP:0012243	Abnormal reproductive system morphology	55012	PPP2R3C	OMIM:618420
HP:0012243	Abnormal reproductive system morphology	2488	FSHB	ORPHA:52901
HP:0012243	Abnormal reproductive system morphology	8556	CDC14A	OMIM:608653
HP:0012243	Abnormal reproductive system morphology	286151	FBXO43	OMIM:619696
HP:0012243	Abnormal reproductive system morphology	84071	ARMC2	OMIM:618433
HP:0012243	Abnormal reproductive system morphology	144132	DNHD1	OMIM:619712
HP:0012243	Abnormal reproductive system morphology	140732	SUN5	ORPHA:529970
HP:0012243	Abnormal reproductive system morphology	83449	PMFBP1	ORPHA:529970
HP:0012243	Abnormal reproductive system morphology	340719	NANOS1	ORPHA:399808
HP:0012243	Abnormal reproductive system morphology	117155	CATSPER2	OMIM:611102
HP:0012243	Abnormal reproductive system morphology	161497	STRC	OMIM:611102
HP:0012243	Abnormal reproductive system morphology	676	BRDT	OMIM:617644
HP:0012243	Abnormal reproductive system morphology	80705	TSGA10	OMIM:617961
HP:0012243	Abnormal reproductive system morphology	201134	CEP112	OMIM:619044
HP:0012243	Abnormal reproductive system morphology	57647	DHX37	OMIM:273250
HP:0012243	Abnormal reproductive system morphology	57647	DHX37	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	6662	SOX9	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	6845	VAMP7	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	51741	WWOX	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	4214	MAP3K1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	2516	NR5A1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	7490	WT1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	58524	DMRT3	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	23414	ZFPM2	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	190	NR0B1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	2626	GATA4	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	207	AKT1	OMIM:615109
HP:0012243	Abnormal reproductive system morphology	5728	PTEN	OMIM:158350
HP:0012243	Abnormal reproductive system morphology	10847	SRCAP	ORPHA:2044
HP:0012243	Abnormal reproductive system morphology	10847	SRCAP	OMIM:136140
HP:0012243	Abnormal reproductive system morphology	10149	ADGRG2	ORPHA:48
HP:0012243	Abnormal reproductive system morphology	10149	ADGRG2	OMIM:300985
HP:0012243	Abnormal reproductive system morphology	2947	GSTM3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	7040	TGFB1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	2729	GCLC	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	1084	CEACAM3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	6556	SLC11A1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	51164	DCTN4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	3783	KCNN4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	4282	MIF	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	1909	EDNRA	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	6550	SLC9A3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	3162	HMOX1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	115019	SLC26A9	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	11254	SLC6A14	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	5265	SERPINA1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	22802	CLCA4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	4680	CEACAM6	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	5618	PRLR	ORPHA:397685
HP:0012243	Abnormal reproductive system morphology	285282	RABL3	ORPHA:1333
HP:0012243	Abnormal reproductive system morphology	23022	PALLD	ORPHA:1333
HP:0012243	Abnormal reproductive system morphology	1294	COL7A1	ORPHA:79409
HP:0012243	Abnormal reproductive system morphology	56246	MRAP	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	6770	STAR	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	4158	MC2R	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	23530	NNT	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	10587	TXNRD2	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	57514	ARHGAP31	OMIM:100300
HP:0012243	Abnormal reproductive system morphology	6794	STK11	ORPHA:2869
HP:0012243	Abnormal reproductive system morphology	7852	CXCR4	ORPHA:51636
HP:0012243	Abnormal reproductive system morphology	2261	FGFR3	OMIM:603956
HP:0012243	Abnormal reproductive system morphology	1027	CDKN1B	ORPHA:276152
HP:0012243	Abnormal reproductive system morphology	7428	VHL	ORPHA:892
HP:0012243	Abnormal reproductive system morphology	7428	VHL	OMIM:193300
HP:0012243	Abnormal reproductive system morphology	595	CCND1	ORPHA:892
HP:0012243	Abnormal reproductive system morphology	595	CCND1	OMIM:193300
HP:0012243	Abnormal reproductive system morphology	26123	TCTN3	ORPHA:2753
HP:0012243	Abnormal reproductive system morphology	23405	DICER1	OMIM:180295
HP:0012243	Abnormal reproductive system morphology	6928	HNF1B	OMIM:137920
HP:0012243	Abnormal reproductive system morphology	8930	MBD4	OMIM:619975
HP:0012243	Abnormal reproductive system morphology	161742	SPRED1	ORPHA:137605
HP:0012243	Abnormal reproductive system morphology	5792	PTPRF	OMIM:616001
HP:0012243	Abnormal reproductive system morphology	2624	GATA2	OMIM:614172
HP:0012243	Abnormal reproductive system morphology	146754	DNAH2	OMIM:619094
HP:0012243	Abnormal reproductive system morphology	22873	DZIP1	OMIM:619102
HP:0012243	Abnormal reproductive system morphology	55779	CFAP44	OMIM:617593
HP:0012243	Abnormal reproductive system morphology	80217	CFAP43	OMIM:617592
HP:0012243	Abnormal reproductive system morphology	255101	CFAP65	OMIM:618664
HP:0012243	Abnormal reproductive system morphology	8632	DNAH17	OMIM:618643
HP:0012243	Abnormal reproductive system morphology	159686	CFAP58	OMIM:619144
HP:0012243	Abnormal reproductive system morphology	83894	TTC29	OMIM:618745
HP:0012243	Abnormal reproductive system morphology	92749	DRC1	OMIM:620222
HP:0012243	Abnormal reproductive system morphology	79846	CFAP69	OMIM:617959
HP:0012243	Abnormal reproductive system morphology	118491	CFAP70	OMIM:618670
HP:0012243	Abnormal reproductive system morphology	85452	CFAP74	OMIM:620197
HP:0012243	Abnormal reproductive system morphology	157855	KCNU1	OMIM:620196
HP:0012243	Abnormal reproductive system morphology	80726	IQCN	OMIM:620170
HP:0012243	Abnormal reproductive system morphology	284382	ACTL9	OMIM:619258
HP:0012243	Abnormal reproductive system morphology	5970	RELA	OMIM:618287
HP:0012243	Abnormal reproductive system morphology	91057	CCDC34	OMIM:620084
HP:0012243	Abnormal reproductive system morphology	1769	DNAH8	OMIM:619095
HP:0012243	Abnormal reproductive system morphology	199223	TTC21A	OMIM:618429
HP:0012243	Abnormal reproductive system morphology	286464	CFAP47	OMIM:301059
HP:0012243	Abnormal reproductive system morphology	196385	DNAH10	OMIM:619515
HP:0012243	Abnormal reproductive system morphology	57728	WDR19	OMIM:619867
HP:0012243	Abnormal reproductive system morphology	25981	DNAH1	OMIM:617576
HP:0012243	Abnormal reproductive system morphology	144406	CFAP251	OMIM:618152
HP:0012243	Abnormal reproductive system morphology	401024	FSIP2	OMIM:618153
HP:0012243	Abnormal reproductive system morphology	89876	CFAP91	OMIM:619177
HP:0012243	Abnormal reproductive system morphology	80173	IFT74	OMIM:619585
HP:0012243	Abnormal reproductive system morphology	375307	CATIP	OMIM:619379
HP:0012243	Abnormal reproductive system morphology	122481	AK7	OMIM:617965
HP:0012243	Abnormal reproductive system morphology	79925	SPEF2	OMIM:618751
HP:0012243	Abnormal reproductive system morphology	84074	QRICH2	OMIM:618341
HP:0012243	Abnormal reproductive system morphology	9075	CLDN2	OMIM:301060
HP:0012243	Abnormal reproductive system morphology	6795	AURKC	OMIM:243060
HP:0012243	Abnormal reproductive system morphology	8468	FKBP6	OMIM:620103
HP:0012243	Abnormal reproductive system morphology	22909	FAN1	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	5378	PMS1	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	80326	WNT10A	ORPHA:50944
HP:0012243	Abnormal reproductive system morphology	65998	ZFTA	ORPHA:251636
HP:0012243	Abnormal reproductive system morphology	3418	IDH2	ORPHA:163634
HP:0012243	Abnormal reproductive system morphology	3417	IDH1	ORPHA:163634
HP:0012243	Abnormal reproductive system morphology	10734	STAG3	OMIM:615723
HP:0012243	Abnormal reproductive system morphology	9817	KEAP1	ORPHA:276399
HP:0012243	Abnormal reproductive system morphology	5071	PRKN	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	4978	OPCML	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	2064	ERBB2	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	79827	CLMP	ORPHA:2301
HP:0012243	Abnormal reproductive system morphology	2767	GNA11	ORPHA:1556
HP:0012243	Abnormal reproductive system morphology	151188	ARL6IP6	ORPHA:1556
HP:0012243	Abnormal reproductive system morphology	2271	FH	ORPHA:523
HP:0012243	Abnormal reproductive system morphology	1281	COL3A1	OMIM:130050
HP:0012243	Abnormal reproductive system morphology	1281	COL3A1	ORPHA:286
HP:0012243	Abnormal reproductive system morphology	7046	TGFBR1	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	10526	IPO8	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	7048	TGFBR2	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	4693	NDP	ORPHA:649
HP:0012243	Abnormal reproductive system morphology	4210	MEFV	ORPHA:342
HP:0012243	Abnormal reproductive system morphology	4210	MEFV	OMIM:249100
HP:0012243	Abnormal reproductive system morphology	4210	MEFV	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012243	Abnormal reproductive system morphology	149233	IL23R	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	6775	STAT4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3586	IL10	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	1230	CCR1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	355	FAS	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3592	IL12A	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3106	HLA-B	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	7099	TLR4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3459	IFNGR1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	720	C4A	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	337867	UBAC2	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	51752	ERAP1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	8302	KLRC4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	11285	B4GALT7	ORPHA:75496
HP:0012243	Abnormal reproductive system morphology	3339	HSPG2	ORPHA:800
HP:0012244	Abnormal sex determination	1528	CYB5A	ORPHA:90796
HP:0012244	Abnormal sex determination	1586	CYP17A1	ORPHA:90796
HP:0012244	Abnormal sex determination	1583	CYP11A1	ORPHA:289548
HP:0012244	Abnormal sex determination	1583	CYP11A1	ORPHA:168558
HP:0012244	Abnormal sex determination	6662	SOX9	ORPHA:251510
HP:0012244	Abnormal sex determination	6845	VAMP7	ORPHA:251510
HP:0012244	Abnormal sex determination	51741	WWOX	ORPHA:251510
HP:0012244	Abnormal sex determination	4214	MAP3K1	ORPHA:251510
HP:0012244	Abnormal sex determination	2516	NR5A1	ORPHA:251510
HP:0012244	Abnormal sex determination	7490	WT1	ORPHA:251510
HP:0012244	Abnormal sex determination	58524	DMRT3	ORPHA:251510
HP:0012244	Abnormal sex determination	57647	DHX37	ORPHA:251510
HP:0012244	Abnormal sex determination	6736	SRY	ORPHA:251510
HP:0012244	Abnormal sex determination	23414	ZFPM2	ORPHA:251510
HP:0012244	Abnormal sex determination	190	NR0B1	ORPHA:251510
HP:0012244	Abnormal sex determination	2626	GATA4	ORPHA:251510
HP:0012244	Abnormal sex determination	84733	CBX2	OMIM:613080
HP:0012244	Abnormal sex determination	284654	RSPO1	ORPHA:85112
HP:0012244	Abnormal sex determination	1646	AKR1C2	OMIM:614279
HP:0012244	Abnormal sex determination	1109	AKR1C4	OMIM:614279
HP:0012244	Abnormal sex determination	54361	WNT4	ORPHA:139466
HP:0012244	Abnormal sex determination	54361	WNT4	OMIM:611812
HP:0012244	Abnormal sex determination	22858	CILK1	OMIM:612651
HP:0012244	Abnormal sex determination	50846	DHH	OMIM:233420
HP:0012245	Sex reversal	1583	CYP11A1	ORPHA:289548
HP:0012245	Sex reversal	1583	CYP11A1	ORPHA:168558
HP:0012245	Sex reversal	1583	CYP11A1	OMIM:613743
HP:0012245	Sex reversal	84733	CBX2	OMIM:613080
HP:0012245	Sex reversal	190	NR0B1	OMIM:300018
HP:0012245	Sex reversal	284654	RSPO1	ORPHA:85112
HP:0012245	Sex reversal	23414	ZFPM2	OMIM:616067
HP:0012245	Sex reversal	1646	AKR1C2	OMIM:614279
HP:0012245	Sex reversal	1109	AKR1C4	OMIM:614279
HP:0012245	Sex reversal	54361	WNT4	ORPHA:139466
HP:0012245	Sex reversal	54361	WNT4	OMIM:611812
HP:0012245	Sex reversal	4214	MAP3K1	OMIM:613762
HP:0012245	Sex reversal	22858	CILK1	OMIM:612651
HP:0012245	Sex reversal	6662	SOX9	OMIM:114290
HP:0012245	Sex reversal	2516	NR5A1	OMIM:612965
HP:0012245	Sex reversal	6736	SRY	OMIM:400044
HP:0012245	Sex reversal	6736	SRY	OMIM:400045
HP:0012245	Sex reversal	50846	DHH	OMIM:233420
HP:0012246	Oculomotor nerve palsy	57167	SALL4	ORPHA:233
HP:0012246	Oculomotor nerve palsy	9935	MAFB	ORPHA:233
HP:0012246	Oculomotor nerve palsy	1123	CHN1	ORPHA:233
HP:0012246	Oculomotor nerve palsy	5339	PLEC	ORPHA:257
HP:0012246	Oculomotor nerve palsy	64072	CDH23	ORPHA:91347
HP:0012246	Oculomotor nerve palsy	64072	CDH23	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	59341	TRPV4	OMIM:606071
HP:0012246	Oculomotor nerve palsy	4221	MEN1	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	9049	AIP	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	8314	BAP1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	4771	NF2	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6598	SMARCB1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5155	PDGFB	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	84231	TRAF7	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6608	SMO	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	207	AKT1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5290	PIK3CA	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5290	PIK3CA	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	7015	TERT	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	51684	SUFU	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6605	SMARCE1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	2475	MTOR	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	10000	AKT3	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	54658	UGT1A1	ORPHA:79234
HP:0012246	Oculomotor nerve palsy	389827	MYMK	OMIM:254940
HP:0012246	Oculomotor nerve palsy	55901	THSD1	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	7049	TGFBR3	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	1281	COL3A1	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	83854	ANGPTL6	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	2022	ENG	ORPHA:231160
HP:0012248	Prolonged PR interval	6327	SCN2B	OMIM:615378
HP:0012248	Prolonged PR interval	6331	SCN5A	OMIM:113900
HP:0012248	Prolonged PR interval	10681	GNB5	ORPHA:542306
HP:0012248	Prolonged PR interval	23171	GPD1L	OMIM:611777
HP:0012248	Prolonged PR interval	1482	NKX2-5	OMIM:108900
HP:0012248	Prolonged PR interval	1188	CLCNKB	ORPHA:358
HP:0012248	Prolonged PR interval	6559	SLC12A3	ORPHA:358
HP:0012248	Prolonged PR interval	1829	DSG2	OMIM:610193
HP:0012248	Prolonged PR interval	7092	TLL1	ORPHA:99106
HP:0012248	Prolonged PR interval	3741	KCNA5	OMIM:612240
HP:0012249	Abnormal ST segment	7139	TNNT2	OMIM:612422
HP:0012249	Abnormal ST segment	5894	RAF1	OMIM:615916
HP:0012249	Abnormal ST segment	7134	TNNC1	OMIM:613243
HP:0012249	Abnormal ST segment	7092	TLL1	ORPHA:99103
HP:0012249	Abnormal ST segment	57057	TBX20	ORPHA:99103
HP:0012249	Abnormal ST segment	4624	MYH6	ORPHA:99103
HP:0012249	Abnormal ST segment	1482	NKX2-5	ORPHA:99103
HP:0012249	Abnormal ST segment	70	ACTC1	ORPHA:99103
HP:0012249	Abnormal ST segment	10370	CITED2	ORPHA:99103
HP:0012249	Abnormal ST segment	2626	GATA4	ORPHA:99103
HP:0012249	Abnormal ST segment	2627	GATA6	ORPHA:99103
HP:0012249	Abnormal ST segment	51422	PRKAG2	OMIM:261740
HP:0012249	Abnormal ST segment	6261	RYR1	ORPHA:466650
HP:0012249	Abnormal ST segment	1188	CLCNKB	ORPHA:358
HP:0012249	Abnormal ST segment	6559	SLC12A3	ORPHA:358
HP:0012249	Abnormal ST segment	23630	KCNE5	ORPHA:130
HP:0012249	Abnormal ST segment	10371	SEMA3A	ORPHA:130
HP:0012249	Abnormal ST segment	54795	TRPM4	ORPHA:130
HP:0012249	Abnormal ST segment	10021	HCN4	ORPHA:130
HP:0012249	Abnormal ST segment	10021	HCN4	OMIM:613123
HP:0012249	Abnormal ST segment	3764	KCNJ8	ORPHA:130
HP:0012249	Abnormal ST segment	3752	KCND3	ORPHA:130
HP:0012249	Abnormal ST segment	3752	KCND3	OMIM:616399
HP:0012249	Abnormal ST segment	5318	PKP2	ORPHA:130
HP:0012249	Abnormal ST segment	7871	SLMAP	ORPHA:130
HP:0012249	Abnormal ST segment	10060	ABCC9	ORPHA:130
HP:0012249	Abnormal ST segment	29098	RANGRF	ORPHA:130
HP:0012249	Abnormal ST segment	6336	SCN10A	ORPHA:130
HP:0012249	Abnormal ST segment	10008	KCNE3	ORPHA:130
HP:0012249	Abnormal ST segment	10008	KCNE3	OMIM:613119
HP:0012249	Abnormal ST segment	55800	SCN3B	ORPHA:130
HP:0012249	Abnormal ST segment	55800	SCN3B	OMIM:613120
HP:0012249	Abnormal ST segment	10142	AKAP9	ORPHA:130
HP:0012249	Abnormal ST segment	783	CACNB2	ORPHA:130
HP:0012249	Abnormal ST segment	6337	SCNN1A	ORPHA:130
HP:0012249	Abnormal ST segment	6327	SCN2B	ORPHA:130
HP:0012249	Abnormal ST segment	6327	SCN2B	OMIM:615378
HP:0012249	Abnormal ST segment	781	CACNA2D1	ORPHA:130
HP:0012249	Abnormal ST segment	775	CACNA1C	ORPHA:130
HP:0012249	Abnormal ST segment	6324	SCN1B	ORPHA:130
HP:0012249	Abnormal ST segment	6324	SCN1B	OMIM:612838
HP:0012249	Abnormal ST segment	6331	SCN5A	ORPHA:130
HP:0012249	Abnormal ST segment	23171	GPD1L	ORPHA:130
HP:0012249	Abnormal ST segment	2992	GYG1	ORPHA:263297
HP:0012249	Abnormal ST segment	2992	GYG1	OMIM:613507
HP:0012249	Abnormal ST segment	5428	POLG	ORPHA:94125
HP:0012241	Levator palpebrae superioris atrophy	55605	KIF21A	OMIM:135700
HP:0012241	Levator palpebrae superioris atrophy	10381	TUBB3	OMIM:600638
HP:0032674	Cutaneous wound	4312	MMP1	ORPHA:79408
HP:0032674	Cutaneous wound	1294	COL7A1	ORPHA:79408
HP:0032674	Cutaneous wound	1294	COL7A1	ORPHA:89842
HP:0032676	Chronic cutaneous wound	4312	MMP1	ORPHA:79408
HP:0032676	Chronic cutaneous wound	1294	COL7A1	ORPHA:79408
HP:0032676	Chronic cutaneous wound	1294	COL7A1	ORPHA:89842
HP:0032677	Generalized-onset motor seizure	401474	SAMD12	OMIM:601068
HP:0032677	Generalized-onset motor seizure	4558	MT-TF	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4558	MT-TF	OMIM:545000
HP:0032677	Generalized-onset motor seizure	4567	MT-TL1	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4567	MT-TL1	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4567	MT-TL1	OMIM:545000
HP:0032677	Generalized-onset motor seizure	4549	MT-RNR1	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4574	MT-TS1	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4575	MT-TS2	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4571	MT-TP	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4571	MT-TP	OMIM:545000
HP:0032677	Generalized-onset motor seizure	4572	MT-TQ	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4540	MT-ND5	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4540	MT-ND5	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4566	MT-TK	ORPHA:551
HP:0032677	Generalized-onset motor seizure	4566	MT-TK	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4566	MT-TK	OMIM:545000
HP:0032677	Generalized-onset motor seizure	4564	MT-TH	ORPHA:551
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	OMIM:607208
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	OMIM:604403
HP:0032677	Generalized-onset motor seizure	6323	SCN1A	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	57526	PCDH19	ORPHA:101039
HP:0032677	Generalized-onset motor seizure	57526	PCDH19	OMIM:300088
HP:0032677	Generalized-onset motor seizure	57526	PCDH19	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	10059	DNM1L	ORPHA:330050
HP:0032677	Generalized-onset motor seizure	7915	ALDH5A1	ORPHA:22
HP:0032677	Generalized-onset motor seizure	7915	ALDH5A1	OMIM:271980
HP:0032677	Generalized-onset motor seizure	4524	MTHFR	ORPHA:395
HP:0032677	Generalized-onset motor seizure	340533	NEXMIF	OMIM:300912
HP:0032677	Generalized-onset motor seizure	340533	NEXMIF	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	57468	SLC12A5	OMIM:616685
HP:0032677	Generalized-onset motor seizure	1859	DYRK1A	ORPHA:268261
HP:0032677	Generalized-onset motor seizure	343450	KCNT2	OMIM:617771
HP:0032677	Generalized-onset motor seizure	8818	DPM2	ORPHA:329178
HP:0032677	Generalized-onset motor seizure	2720	GLB1	OMIM:230600
HP:0032677	Generalized-onset motor seizure	2896	GRN	OMIM:614706
HP:0032677	Generalized-onset motor seizure	170302	ARX	OMIM:308350
HP:0032677	Generalized-onset motor seizure	4758	NEU1	ORPHA:93399
HP:0032677	Generalized-onset motor seizure	64324	NSD1	ORPHA:821
HP:0032677	Generalized-onset motor seizure	29072	SETD2	ORPHA:821
HP:0032677	Generalized-onset motor seizure	10297	APC2	ORPHA:821
HP:0032677	Generalized-onset motor seizure	57465	TBC1D24	OMIM:605021
HP:0032677	Generalized-onset motor seizure	57465	TBC1D24	ORPHA:352596
HP:0032677	Generalized-onset motor seizure	57465	TBC1D24	ORPHA:352582
HP:0032677	Generalized-onset motor seizure	501	ALDH7A1	OMIM:266100
HP:0032677	Generalized-onset motor seizure	4535	MT-ND1	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4536	MT-ND2	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4537	MT-ND3	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4538	MT-ND4	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4578	MT-TW	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4577	MT-TV	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4508	MT-ATP6	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	4541	MT-ND6	ORPHA:255210
HP:0032677	Generalized-onset motor seizure	6792	CDKL5	ORPHA:3095
HP:0032677	Generalized-onset motor seizure	6792	CDKL5	OMIM:300672
HP:0032677	Generalized-onset motor seizure	22854	NTNG1	ORPHA:3095
HP:0032677	Generalized-onset motor seizure	9568	GABBR2	ORPHA:3095
HP:0032677	Generalized-onset motor seizure	4204	MECP2	ORPHA:3095
HP:0032677	Generalized-onset motor seizure	8243	SMC1A	ORPHA:3095
HP:0032677	Generalized-onset motor seizure	2593	GAMT	ORPHA:382
HP:0032677	Generalized-onset motor seizure	2563	GABRD	OMIM:613060
HP:0032677	Generalized-onset motor seizure	2563	GABRD	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	79587	CARS2	ORPHA:477774
HP:0032677	Generalized-onset motor seizure	1106	CHD2	OMIM:615369
HP:0032677	Generalized-onset motor seizure	1106	CHD2	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	1106	CHD2	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	55768	NGLY1	ORPHA:404454
HP:0032677	Generalized-onset motor seizure	54820	NDE1	OMIM:605013
HP:0032677	Generalized-onset motor seizure	3767	KCNJ11	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	6774	STAT3	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	2645	GCK	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	3651	PDX1	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	6833	ABCC8	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	3630	INS	ORPHA:99885
HP:0032677	Generalized-onset motor seizure	154881	KCTD7	OMIM:611726
HP:0032677	Generalized-onset motor seizure	10166	SLC25A15	ORPHA:415
HP:0032677	Generalized-onset motor seizure	10166	SLC25A15	OMIM:238970
HP:0032677	Generalized-onset motor seizure	427	ASAH1	OMIM:159950
HP:0032677	Generalized-onset motor seizure	427	ASAH1	ORPHA:2590
HP:0032677	Generalized-onset motor seizure	4694	NDUFA1	OMIM:301020
HP:0032677	Generalized-onset motor seizure	150094	SIK1	OMIM:616341
HP:0032677	Generalized-onset motor seizure	150094	SIK1	ORPHA:1935
HP:0032677	Generalized-onset motor seizure	116150	NUS1	OMIM:617831
HP:0032677	Generalized-onset motor seizure	79947	DHDDS	OMIM:617836
HP:0032677	Generalized-onset motor seizure	686	BTD	ORPHA:79241
HP:0032677	Generalized-onset motor seizure	10939	AFG3L2	ORPHA:313772
HP:0032677	Generalized-onset motor seizure	10939	AFG3L2	OMIM:614487
HP:0032677	Generalized-onset motor seizure	128989	TANGO2	ORPHA:480864
HP:0032677	Generalized-onset motor seizure	57531	HACE1	ORPHA:464282
HP:0032677	Generalized-onset motor seizure	57531	HACE1	OMIM:616756
HP:0032677	Generalized-onset motor seizure	80856	LNPK	OMIM:618090
HP:0032677	Generalized-onset motor seizure	51651	PTRH2	ORPHA:456312
HP:0032677	Generalized-onset motor seizure	1759	DNM1	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	2562	GABRB3	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	5602	MAPK10	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	773	CACNA1A	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	23316	CUX2	ORPHA:2382
HP:0032677	Generalized-onset motor seizure	23316	CUX2	OMIM:618141
HP:0032677	Generalized-onset motor seizure	4565	MT-TI	OMIM:545000
HP:0032677	Generalized-onset motor seizure	5277	PIGA	OMIM:300868
HP:0032677	Generalized-onset motor seizure	83696	TRAPPC9	ORPHA:352530
HP:0032677	Generalized-onset motor seizure	6785	ELOVL4	OMIM:614457
HP:0032677	Generalized-onset motor seizure	26227	PHGDH	ORPHA:79351
HP:0032677	Generalized-onset motor seizure	144165	PRICKLE1	OMIM:612437
HP:0032677	Generalized-onset motor seizure	6335	SCN9A	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	6335	SCN9A	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	112755	STX1B	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	6326	SCN2A	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	6326	SCN2A	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	6324	SCN1B	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	6324	SCN1B	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	6324	SCN1B	OMIM:617350
HP:0032677	Generalized-onset motor seizure	348980	HCN1	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	84059	ADGRV1	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	2566	GABRG2	ORPHA:36387
HP:0032677	Generalized-onset motor seizure	2566	GABRG2	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	2629	GBA1	OMIM:231000
HP:0032677	Generalized-onset motor seizure	2629	GBA1	ORPHA:2072
HP:0032677	Generalized-onset motor seizure	2629	GBA1	ORPHA:77261
HP:0032677	Generalized-onset motor seizure	2629	GBA1	ORPHA:77260
HP:0032677	Generalized-onset motor seizure	1798	DPAGT1	ORPHA:86309
HP:0032677	Generalized-onset motor seizure	6611	SMS	ORPHA:3063
HP:0032677	Generalized-onset motor seizure	57061	HYMAI	ORPHA:96191
HP:0032677	Generalized-onset motor seizure	5325	PLAGL1	ORPHA:96191
HP:0032677	Generalized-onset motor seizure	56978	PRDM8	OMIM:616640
HP:0032677	Generalized-onset motor seizure	6812	STXBP1	OMIM:612164
HP:0032677	Generalized-onset motor seizure	51604	PIGT	ORPHA:369837
HP:0032677	Generalized-onset motor seizure	10815	CPLX1	OMIM:617976
HP:0032677	Generalized-onset motor seizure	10815	CPLX1	ORPHA:352582
HP:0032677	Generalized-onset motor seizure	4983	OPHN1	ORPHA:137831
HP:0032677	Generalized-onset motor seizure	79751	SLC25A22	OMIM:609304
HP:0032677	Generalized-onset motor seizure	79751	SLC25A22	ORPHA:1935
HP:0032677	Generalized-onset motor seizure	2554	GABRA1	ORPHA:33069
HP:0032677	Generalized-onset motor seizure	378884	NHLRC1	ORPHA:501
HP:0032677	Generalized-onset motor seizure	378884	NHLRC1	OMIM:254780
HP:0032677	Generalized-onset motor seizure	7957	EPM2A	ORPHA:501
HP:0032677	Generalized-onset motor seizure	7957	EPM2A	OMIM:254780
HP:0032677	Generalized-onset motor seizure	5293	PIK3CD	ORPHA:221139
HP:0032677	Generalized-onset motor seizure	5293	PIK3CD	OMIM:613328
HP:0032677	Generalized-onset motor seizure	90417	KNSTRN	ORPHA:221139
HP:0032677	Generalized-onset motor seizure	90417	KNSTRN	OMIM:613328
HP:0032677	Generalized-onset motor seizure	9289	ADGRG1	ORPHA:101070
HP:0032677	Generalized-onset motor seizure	5728	PTEN	ORPHA:101070
HP:0032677	Generalized-onset motor seizure	51124	IER3IP1	OMIM:614231
HP:0032677	Generalized-onset motor seizure	10991	SLC38A3	OMIM:619881
HP:0032677	Generalized-onset motor seizure	79143	MBOAT7	OMIM:617188
HP:0032677	Generalized-onset motor seizure	283989	TSEN54	ORPHA:2524
HP:0032677	Generalized-onset motor seizure	116461	TSEN15	ORPHA:2524
HP:0032677	Generalized-onset motor seizure	79042	TSEN34	ORPHA:2524
HP:0032677	Generalized-onset motor seizure	80746	TSEN2	ORPHA:2524
HP:0032677	Generalized-onset motor seizure	51091	SEPSECS	ORPHA:2524
HP:0032677	Generalized-onset motor seizure	256471	MFSD8	OMIM:610951
HP:0032677	Generalized-onset motor seizure	114327	EFHC1	OMIM:607631
HP:0032677	Generalized-onset motor seizure	1181	CLCN2	OMIM:607628
HP:0032677	Generalized-onset motor seizure	54802	TRIT1	OMIM:617873
HP:0032677	Generalized-onset motor seizure	84823	LMNB2	OMIM:616540
HP:0032677	Generalized-onset motor seizure	6389	SDHA	ORPHA:3208
HP:0032677	Generalized-onset motor seizure	6390	SDHB	ORPHA:3208
HP:0032677	Generalized-onset motor seizure	6392	SDHD	ORPHA:3208
HP:0032677	Generalized-onset motor seizure	644096	SDHAF1	ORPHA:3208
HP:0032677	Generalized-onset motor seizure	51294	PCDH12	OMIM:251280
HP:0032677	Generalized-onset motor seizure	2055	CLN8	ORPHA:1947
HP:0032677	Generalized-onset motor seizure	2581	GALC	ORPHA:206436
HP:0032677	Generalized-onset motor seizure	5660	PSAP	ORPHA:206436
HP:0032677	Generalized-onset motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0032677	Generalized-onset motor seizure	8813	DPM1	ORPHA:79322
HP:0032677	Generalized-onset motor seizure	6513	SLC2A1	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	8831	SYNGAP1	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	1173	AP2M1	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	6529	SLC6A1	ORPHA:1942
HP:0032677	Generalized-onset motor seizure	701	BUB1B	OMIM:257300
HP:0032677	Generalized-onset motor seizure	10243	GPHN	OMIM:615501
HP:0032677	Generalized-onset motor seizure	221927	BRAT1	OMIM:614498
HP:0032677	Generalized-onset motor seizure	22858	CILK1	OMIM:617924
HP:0032677	Generalized-onset motor seizure	2902	GRIN1	ORPHA:208447
HP:0032677	Generalized-onset motor seizure	10479	SLC9A6	OMIM:300243
HP:0032677	Generalized-onset motor seizure	8629	JRK	ORPHA:307
HP:0032677	Generalized-onset motor seizure	610	HCN2	OMIM:602477
HP:0032677	Generalized-onset motor seizure	2775	GNAO1	OMIM:615473
HP:0032677	Generalized-onset motor seizure	2775	GNAO1	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	23241	PACS2	OMIM:618067
HP:0032677	Generalized-onset motor seizure	85440	DOCK7	ORPHA:411986
HP:0032677	Generalized-onset motor seizure	25977	NECAP1	OMIM:615833
HP:0032677	Generalized-onset motor seizure	4191	MDH2	OMIM:617339
HP:0032677	Generalized-onset motor seizure	6334	SCN8A	ORPHA:306
HP:0032677	Generalized-onset motor seizure	112476	PRRT2	ORPHA:306
HP:0032677	Generalized-onset motor seizure	3785	KCNQ2	ORPHA:306
HP:0032677	Generalized-onset motor seizure	3785	KCNQ2	ORPHA:1949
HP:0032677	Generalized-onset motor seizure	3785	KCNQ2	ORPHA:439218
HP:0032677	Generalized-onset motor seizure	3786	KCNQ3	ORPHA:306
HP:0032677	Generalized-onset motor seizure	3786	KCNQ3	ORPHA:1949
HP:0032677	Generalized-onset motor seizure	6134	RPL10	ORPHA:459070
HP:0032677	Generalized-onset motor seizure	785	CACNB4	OMIM:607682
HP:0032677	Generalized-onset motor seizure	22796	COG2	ORPHA:435934
HP:0032677	Generalized-onset motor seizure	22796	COG2	OMIM:617395
HP:0032677	Generalized-onset motor seizure	55610	VPS50	OMIM:619685
HP:0032677	Generalized-onset motor seizure	2782	GNB1	OMIM:616973
HP:0032677	Generalized-onset motor seizure	6506	SLC1A2	OMIM:617105
HP:0032677	Generalized-onset motor seizure	56997	COQ8A	OMIM:612016
HP:0032677	Generalized-onset motor seizure	57582	KCNT1	OMIM:614959
HP:0032677	Generalized-onset motor seizure	7846	TUBA1A	OMIM:611603
HP:0032677	Generalized-onset motor seizure	6904	TBCD	ORPHA:496641
HP:0032677	Generalized-onset motor seizure	6904	TBCD	OMIM:617193
HP:0032677	Generalized-onset motor seizure	23229	ARHGEF9	ORPHA:163985
HP:0032677	Generalized-onset motor seizure	340024	SLC6A19	OMIM:234500
HP:0032677	Generalized-onset motor seizure	3735	KARS1	OMIM:619147
HP:0032677	Generalized-onset motor seizure	1917	EEF1A2	OMIM:616393
HP:0032677	Generalized-onset motor seizure	2903	GRIN2A	ORPHA:289266
HP:0032677	Generalized-onset motor seizure	6304	SATB1	OMIM:619229
HP:0032677	Generalized-onset motor seizure	3736	KCNA1	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	9091	PIGQ	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	81603	TRIM8	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	8573	CASK	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	23312	DMXL2	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	2917	GRM7	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	11284	PNKP	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	51227	PIGP	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	4761	NEUROD2	ORPHA:1934
HP:0032677	Generalized-onset motor seizure	1719	DHFR	OMIM:613839
HP:0032677	Generalized-onset motor seizure	197322	ACSF3	ORPHA:289504
HP:0032677	Generalized-onset motor seizure	197322	ACSF3	OMIM:614265
HP:0032677	Generalized-onset motor seizure	23261	CAMTA1	OMIM:614756
HP:0032677	Generalized-onset motor seizure	55753	OGDHL	OMIM:619701
HP:0032677	Generalized-onset motor seizure	9969	MED13	OMIM:618009
HP:0032677	Generalized-onset motor seizure	7337	UBE3A	ORPHA:98795
HP:0032677	Generalized-onset motor seizure	4677	NARS1	OMIM:619091
HP:0032677	Generalized-onset motor seizure	4677	NARS1	OMIM:619092
HP:0032677	Generalized-onset motor seizure	1351	COX8A	OMIM:619059
HP:0032677	Generalized-onset motor seizure	149371	EXOC8	OMIM:619076
HP:0032677	Generalized-onset motor seizure	55275	VPS53	OMIM:615851
HP:0032677	Generalized-onset motor seizure	3778	KCNMA1	OMIM:609446
HP:0032677	Generalized-onset motor seizure	2571	GAD1	OMIM:619124
HP:0032677	Generalized-onset motor seizure	51075	TMX2	OMIM:618730
HP:0032677	Generalized-onset motor seizure	84274	COQ5	OMIM:619028
HP:0032677	Generalized-onset motor seizure	5833	PCYT2	OMIM:618770
HP:0032677	Generalized-onset motor seizure	3658	IREB2	OMIM:618451
HP:0032677	Generalized-onset motor seizure	23031	MAST3	OMIM:620115
HP:0032677	Generalized-onset motor seizure	2558	GABRA5	OMIM:618559
HP:0032677	Generalized-onset motor seizure	5813	PURA	ORPHA:314655
HP:0032678	Eyelid myoclonia seizure	1173	AP2M1	OMIM:618587
HP:0032678	Eyelid myoclonia seizure	1719	DHFR	OMIM:613839
HP:0032679	Focal non-motor seizure	6608	SMO	OMIM:241800
HP:0032679	Focal non-motor seizure	2737	GLI3	ORPHA:672
HP:0032679	Focal non-motor seizure	55690	PACS1	ORPHA:329224
HP:0032679	Focal non-motor seizure	26227	PHGDH	ORPHA:79351
HP:0032679	Focal non-motor seizure	55768	NGLY1	ORPHA:404454
HP:0032679	Focal non-motor seizure	10588	MTHFS	OMIM:618367
HP:0032679	Focal non-motor seizure	2902	GRIN1	ORPHA:208447
HP:0032679	Focal non-motor seizure	10991	SLC38A3	OMIM:619881
HP:0032679	Focal non-motor seizure	3785	KCNQ2	ORPHA:1949
HP:0032679	Focal non-motor seizure	3786	KCNQ3	ORPHA:1949
HP:0032679	Focal non-motor seizure	57582	KCNT1	OMIM:614959
HP:0032679	Focal non-motor seizure	3736	KCNA1	ORPHA:98809
HP:0032679	Focal non-motor seizure	112476	PRRT2	ORPHA:98809
HP:0032679	Focal non-motor seizure	112476	PRRT2	OMIM:602066
HP:0032679	Focal non-motor seizure	112476	PRRT2	ORPHA:569
HP:0032679	Focal non-motor seizure	9289	ADGRG1	ORPHA:98889
HP:0032679	Focal non-motor seizure	5297	PI4KA	ORPHA:98889
HP:0032679	Focal non-motor seizure	27286	SRPX2	ORPHA:98889
HP:0032679	Focal non-motor seizure	773	CACNA1A	ORPHA:569
HP:0032679	Focal non-motor seizure	6323	SCN1A	ORPHA:569
HP:0032679	Focal non-motor seizure	477	ATP1A2	ORPHA:569
HP:0032679	Focal non-motor seizure	11277	TREX1	ORPHA:247691
HP:0032679	Focal non-motor seizure	7957	EPM2A	OMIM:254780
HP:0032679	Focal non-motor seizure	7957	EPM2A	ORPHA:501
HP:0032679	Focal non-motor seizure	378884	NHLRC1	OMIM:254780
HP:0032679	Focal non-motor seizure	378884	NHLRC1	ORPHA:501
HP:0032679	Focal non-motor seizure	6900	CNTN2	OMIM:615400
HP:0032679	Focal non-motor seizure	5138	PDE2A	ORPHA:31709
HP:0032679	Focal non-motor seizure	6334	SCN8A	ORPHA:31709
HP:0032679	Focal non-motor seizure	8131	NPRL3	ORPHA:98820
HP:0032679	Focal non-motor seizure	10641	NPRL2	ORPHA:98820
HP:0032679	Focal non-motor seizure	9681	DEPDC5	ORPHA:98820
HP:0032679	Focal non-motor seizure	51083	GAL	OMIM:616461
HP:0032679	Focal non-motor seizure	5649	RELN	OMIM:600512
HP:0032679	Focal non-motor seizure	64780	MICAL1	OMIM:600512
HP:0032679	Focal non-motor seizure	9211	LGI1	OMIM:600512
HP:0032679	Focal non-motor seizure	57526	PCDH19	OMIM:300088
HP:0032680	Focal cognitive seizure	5649	RELN	OMIM:600512
HP:0032680	Focal cognitive seizure	64780	MICAL1	OMIM:600512
HP:0032680	Focal cognitive seizure	9211	LGI1	OMIM:600512
HP:0032680	Focal cognitive seizure	51083	GAL	OMIM:616461
HP:0032680	Focal cognitive seizure	8131	NPRL3	ORPHA:98820
HP:0032680	Focal cognitive seizure	10641	NPRL2	ORPHA:98820
HP:0032680	Focal cognitive seizure	9681	DEPDC5	ORPHA:98820
HP:0032681	Focal aware cognitive seizure	51083	GAL	OMIM:616461
HP:0032682	Focal aware non-motor seizure	51083	GAL	OMIM:616461
HP:0032682	Focal aware non-motor seizure	5649	RELN	OMIM:600512
HP:0032682	Focal aware non-motor seizure	64780	MICAL1	OMIM:600512
HP:0032682	Focal aware non-motor seizure	9211	LGI1	OMIM:600512
HP:0002031	Abnormal esophagus morphology	673	BRAF	OMIM:613706
HP:0002031	Abnormal esophagus morphology	7528	YY1	ORPHA:506358
HP:0002031	Abnormal esophagus morphology	2263	FGFR2	ORPHA:87
HP:0002031	Abnormal esophagus morphology	2263	FGFR2	OMIM:101200
HP:0002031	Abnormal esophagus morphology	5339	PLEC	OMIM:226730
HP:0002031	Abnormal esophagus morphology	3691	ITGB4	OMIM:226730
HP:0002031	Abnormal esophagus morphology	6023	RMRP	OMIM:250250
HP:0002031	Abnormal esophagus morphology	55112	DYNC2I1	ORPHA:93271
HP:0002031	Abnormal esophagus morphology	57560	IFT80	ORPHA:93271
HP:0002031	Abnormal esophagus morphology	57539	WDR35	ORPHA:93271
HP:0002031	Abnormal esophagus morphology	79659	DYNC2H1	ORPHA:93271
HP:0002031	Abnormal esophagus morphology	89891	DYNC2I2	ORPHA:93271
HP:0002031	Abnormal esophagus morphology	10046	MAMLD1	ORPHA:95706
HP:0002031	Abnormal esophagus morphology	367	AR	ORPHA:95706
HP:0002031	Abnormal esophagus morphology	6602	SMARCD1	OMIM:618779
HP:0002031	Abnormal esophagus morphology	4990	SIX6	OMIM:206900
HP:0002031	Abnormal esophagus morphology	9343	EFTUD2	OMIM:610536
HP:0002031	Abnormal esophagus morphology	5053	PAH	ORPHA:2209
HP:0002031	Abnormal esophagus morphology	9968	MED12	OMIM:301068
HP:0002031	Abnormal esophagus morphology	3988	LIPA	ORPHA:75233
HP:0002031	Abnormal esophagus morphology	3988	LIPA	OMIM:278000
HP:0002031	Abnormal esophagus morphology	3988	LIPA	ORPHA:75234
HP:0002031	Abnormal esophagus morphology	2658	GDF2	ORPHA:774
HP:0002031	Abnormal esophagus morphology	94	ACVRL1	ORPHA:774
HP:0002031	Abnormal esophagus morphology	4089	SMAD4	ORPHA:774
HP:0002031	Abnormal esophagus morphology	2022	ENG	ORPHA:774
HP:0002031	Abnormal esophagus morphology	875	CBS	ORPHA:394
HP:0002031	Abnormal esophagus morphology	7840	ALMS1	ORPHA:64
HP:0002031	Abnormal esophagus morphology	811	CALR	ORPHA:131
HP:0002031	Abnormal esophagus morphology	3717	JAK2	ORPHA:131
HP:0002031	Abnormal esophagus morphology	2153	F5	ORPHA:131
HP:0002031	Abnormal esophagus morphology	2629	GBA1	ORPHA:2072
HP:0002031	Abnormal esophagus morphology	79989	IFT56	OMIM:619534
HP:0002031	Abnormal esophagus morphology	5314	PKHD1	OMIM:263200
HP:0002031	Abnormal esophagus morphology	5314	PKHD1	ORPHA:53035
HP:0002031	Abnormal esophagus morphology	5314	PKHD1	ORPHA:731
HP:0002031	Abnormal esophagus morphology	55532	SLC30A10	ORPHA:309854
HP:0002031	Abnormal esophagus morphology	54567	DLL4	OMIM:616589
HP:0002031	Abnormal esophagus morphology	54567	DLL4	ORPHA:974
HP:0002031	Abnormal esophagus morphology	2632	GBE1	OMIM:232500
HP:0002031	Abnormal esophagus morphology	4851	NOTCH1	OMIM:616028
HP:0002031	Abnormal esophagus morphology	4851	NOTCH1	ORPHA:974
HP:0002031	Abnormal esophagus morphology	3875	KRT18	OMIM:215600
HP:0002031	Abnormal esophagus morphology	10056	FARSB	OMIM:613658
HP:0002031	Abnormal esophagus morphology	91147	TMEM67	OMIM:216360
HP:0002031	Abnormal esophagus morphology	91147	TMEM67	ORPHA:84081
HP:0002031	Abnormal esophagus morphology	79991	STN1	OMIM:617341
HP:0002031	Abnormal esophagus morphology	1716	DGUOK	OMIM:617068
HP:0002031	Abnormal esophagus morphology	55340	GIMAP5	OMIM:619463
HP:0002031	Abnormal esophagus morphology	5256	PHKA2	ORPHA:264580
HP:0002031	Abnormal esophagus morphology	5261	PHKG2	ORPHA:264580
HP:0002031	Abnormal esophagus morphology	113220	KIF12	OMIM:619662
HP:0002031	Abnormal esophagus morphology	57511	COG6	OMIM:614576
HP:0002031	Abnormal esophagus morphology	51816	ADA2	OMIM:615688
HP:0002031	Abnormal esophagus morphology	51473	DCDC2	ORPHA:84081
HP:0002031	Abnormal esophagus morphology	2783	GNB2	OMIM:619503
HP:0002031	Abnormal esophagus morphology	9371	KIF3B	OMIM:618955
HP:0002031	Abnormal esophagus morphology	540	ATP7B	OMIM:277900
HP:0002031	Abnormal esophagus morphology	3516	RBPJ	ORPHA:974
HP:0002031	Abnormal esophagus morphology	57514	ARHGAP31	ORPHA:974
HP:0002031	Abnormal esophagus morphology	57572	DOCK6	ORPHA:974
HP:0002031	Abnormal esophagus morphology	285203	EOGT	ORPHA:974
HP:0002031	Abnormal esophagus morphology	199221	DZIP1L	ORPHA:731
HP:0002031	Abnormal esophagus morphology	3909	LAMA3	ORPHA:79404
HP:0002031	Abnormal esophagus morphology	3918	LAMC2	ORPHA:79404
HP:0002031	Abnormal esophagus morphology	3914	LAMB3	ORPHA:79404
HP:0002031	Abnormal esophagus morphology	4629	MYH11	OMIM:619350
HP:0002031	Abnormal esophagus morphology	1294	COL7A1	ORPHA:79409
HP:0002031	Abnormal esophagus morphology	1294	COL7A1	OMIM:226600
HP:0002031	Abnormal esophagus morphology	1294	COL7A1	ORPHA:89842
HP:0002031	Abnormal esophagus morphology	1294	COL7A1	ORPHA:158673
HP:0002031	Abnormal esophagus morphology	3106	HLA-B	ORPHA:36426
HP:0002031	Abnormal esophagus morphology	10320	IKZF1	ORPHA:36426
HP:0002031	Abnormal esophagus morphology	4312	MMP1	OMIM:226600
HP:0002031	Abnormal esophagus morphology	55612	FERMT1	ORPHA:2908
HP:0002031	Abnormal esophagus morphology	54809	SAMD9	OMIM:617053
HP:0002031	Abnormal esophagus morphology	55651	NHP2	OMIM:224230
HP:0002031	Abnormal esophagus morphology	55505	NOP10	OMIM:224230
HP:0002031	Abnormal esophagus morphology	79977	GRHL2	OMIM:616029
HP:0002031	Abnormal esophagus morphology	10892	MALT1	OMIM:615468
HP:0002031	Abnormal esophagus morphology	5238	PGM3	OMIM:615816
HP:0002031	Abnormal esophagus morphology	1736	DKC1	OMIM:305000
HP:0002031	Abnormal esophagus morphology	64858	DCLRE1B	OMIM:620133
HP:0002031	Abnormal esophagus morphology	7015	TERT	OMIM:613989
HP:0002031	Abnormal esophagus morphology	2294	FOXF1	OMIM:265380
HP:0002031	Abnormal esophagus morphology	2294	FOXF1	ORPHA:210122
HP:0002031	Abnormal esophagus morphology	2187	FANCB	OMIM:300514
HP:0002031	Abnormal esophagus morphology	2187	FANCB	OMIM:314390
HP:0002031	Abnormal esophagus morphology	2187	FANCB	ORPHA:3412
HP:0002031	Abnormal esophagus morphology	2187	FANCB	ORPHA:84
HP:0002031	Abnormal esophagus morphology	10054	UBA2	OMIM:619959
HP:0002031	Abnormal esophagus morphology	6804	STX1A	ORPHA:904
HP:0002031	Abnormal esophagus morphology	7461	CLIP2	ORPHA:904
HP:0002031	Abnormal esophagus morphology	84277	DNAJC30	ORPHA:904
HP:0002031	Abnormal esophagus morphology	8468	FKBP6	ORPHA:904
HP:0002031	Abnormal esophagus morphology	5982	RFC2	ORPHA:904
HP:0002031	Abnormal esophagus morphology	2969	GTF2I	ORPHA:904
HP:0002031	Abnormal esophagus morphology	3984	LIMK1	ORPHA:904
HP:0002031	Abnormal esophagus morphology	9569	GTF2IRD1	ORPHA:904
HP:0002031	Abnormal esophagus morphology	155382	VPS37D	ORPHA:904
HP:0002031	Abnormal esophagus morphology	155368	METTL27	ORPHA:904
HP:0002031	Abnormal esophagus morphology	114049	BUD23	ORPHA:904
HP:0002031	Abnormal esophagus morphology	7458	EIF4H	ORPHA:904
HP:0002031	Abnormal esophagus morphology	84163	GTF2IRD2	ORPHA:904
HP:0002031	Abnormal esophagus morphology	9275	BCL7B	ORPHA:904
HP:0002031	Abnormal esophagus morphology	26608	TBL2	ORPHA:904
HP:0002031	Abnormal esophagus morphology	653361	NCF1	ORPHA:904
HP:0002031	Abnormal esophagus morphology	653361	NCF1	ORPHA:379
HP:0002031	Abnormal esophagus morphology	135886	TMEM270	ORPHA:904
HP:0002031	Abnormal esophagus morphology	51085	MLXIPL	ORPHA:904
HP:0002031	Abnormal esophagus morphology	9031	BAZ1B	ORPHA:904
HP:0002031	Abnormal esophagus morphology	2006	ELN	ORPHA:904
HP:0002031	Abnormal esophagus morphology	5979	RET	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	8516	ITGA8	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	26281	FGF20	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	2674	GFRA1	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	7484	WNT9B	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	80000	GREB1L	ORPHA:1848
HP:0002031	Abnormal esophagus morphology	6558	SLC12A2	OMIM:619083
HP:0002031	Abnormal esophagus morphology	84172	POLR1B	ORPHA:861
HP:0002031	Abnormal esophagus morphology	9533	POLR1C	ORPHA:861
HP:0002031	Abnormal esophagus morphology	51082	POLR1D	ORPHA:861
HP:0002031	Abnormal esophagus morphology	6949	TCOF1	ORPHA:861
HP:0002031	Abnormal esophagus morphology	6299	SALL1	OMIM:107480
HP:0002031	Abnormal esophagus morphology	7547	ZIC3	OMIM:314390
HP:0002031	Abnormal esophagus morphology	55788	LMBRD1	OMIM:277380
HP:0002031	Abnormal esophagus morphology	55636	CHD7	ORPHA:138
HP:0002031	Abnormal esophagus morphology	55636	CHD7	OMIM:214800
HP:0002031	Abnormal esophagus morphology	9723	SEMA3E	ORPHA:138
HP:0002031	Abnormal esophagus morphology	1536	CYBB	ORPHA:379
HP:0002031	Abnormal esophagus morphology	4688	NCF2	ORPHA:379
HP:0002031	Abnormal esophagus morphology	1535	CYBA	ORPHA:379
HP:0002031	Abnormal esophagus morphology	4689	NCF4	ORPHA:379
HP:0002031	Abnormal esophagus morphology	79415	CYBC1	ORPHA:379
HP:0002031	Abnormal esophagus morphology	6657	SOX2	ORPHA:77298
HP:0002031	Abnormal esophagus morphology	6657	SOX2	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	4854	NOTCH3	ORPHA:2591
HP:0002031	Abnormal esophagus morphology	5159	PDGFRB	ORPHA:2591
HP:0002031	Abnormal esophagus morphology	2177	FANCD2	OMIM:227646
HP:0002031	Abnormal esophagus morphology	2177	FANCD2	ORPHA:84
HP:0002031	Abnormal esophagus morphology	55120	FANCL	OMIM:614083
HP:0002031	Abnormal esophagus morphology	55120	FANCL	ORPHA:84
HP:0002031	Abnormal esophagus morphology	10606	PAICS	OMIM:619859
HP:0002031	Abnormal esophagus morphology	7476	WNT7A	ORPHA:2879
HP:0002031	Abnormal esophagus morphology	672	BRCA1	ORPHA:84
HP:0002031	Abnormal esophagus morphology	10459	MAD2L2	ORPHA:84
HP:0002031	Abnormal esophagus morphology	7516	XRCC2	ORPHA:84
HP:0002031	Abnormal esophagus morphology	29089	UBE2T	ORPHA:84
HP:0002031	Abnormal esophagus morphology	675	BRCA2	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2175	FANCA	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2176	FANCC	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2178	FANCE	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2188	FANCF	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2189	FANCG	ORPHA:84
HP:0002031	Abnormal esophagus morphology	5888	RAD51	ORPHA:84
HP:0002031	Abnormal esophagus morphology	5889	RAD51C	ORPHA:84
HP:0002031	Abnormal esophagus morphology	55159	RFWD3	ORPHA:84
HP:0002031	Abnormal esophagus morphology	83990	BRIP1	ORPHA:84
HP:0002031	Abnormal esophagus morphology	57697	FANCM	ORPHA:84
HP:0002031	Abnormal esophagus morphology	79728	PALB2	ORPHA:84
HP:0002031	Abnormal esophagus morphology	84464	SLX4	ORPHA:84
HP:0002031	Abnormal esophagus morphology	2072	ERCC4	ORPHA:84
HP:0002031	Abnormal esophagus morphology	55215	FANCI	ORPHA:84
HP:0002031	Abnormal esophagus morphology	3239	HOXD13	ORPHA:887
HP:0002031	Abnormal esophagus morphology	5422	POLA1	OMIM:301030
HP:0002031	Abnormal esophagus morphology	4281	MID1	ORPHA:2745
HP:0002031	Abnormal esophagus morphology	4613	MYCN	OMIM:164280
HP:0002031	Abnormal esophagus morphology	51729	WBP11	OMIM:619227
HP:0002031	Abnormal esophagus morphology	2260	FGFR1	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	128674	PROKR2	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	6658	SOX3	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	9915	ARNT2	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	8820	HESX1	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	5015	OTX2	ORPHA:3157
HP:0002031	Abnormal esophagus morphology	2201	FBN2	ORPHA:115
HP:0002031	Abnormal esophagus morphology	5321	PLA2G4A	OMIM:618372
HP:0002031	Abnormal esophagus morphology	80169	CTC1	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	26277	TINF2	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	79650	USB1	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	55135	WRAP53	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	51750	RTEL1	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	51750	RTEL1	OMIM:615190
HP:0002031	Abnormal esophagus morphology	4869	NPM1	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	7012	TERC	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	5073	PARN	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	7298	TYMS	ORPHA:1775
HP:0002031	Abnormal esophagus morphology	29926	GMPPA	OMIM:615510
HP:0002031	Abnormal esophagus morphology	3655	ITGA6	OMIM:619817
HP:0002031	Abnormal esophagus morphology	65057	ACD	OMIM:616553
HP:0002031	Abnormal esophagus morphology	115908	CTHRC1	OMIM:614266
HP:0002031	Abnormal esophagus morphology	4481	MSR1	OMIM:614266
HP:0002031	Abnormal esophagus morphology	51008	ASCC1	OMIM:614266
HP:0002031	Abnormal esophagus morphology	6772	STAT1	ORPHA:391487
HP:0002031	Abnormal esophagus morphology	10043	TOM1	ORPHA:391487
HP:0002031	Abnormal esophagus morphology	6049	RNF6	ORPHA:99977
HP:0002031	Abnormal esophagus morphology	6049	RNF6	OMIM:133239
HP:0002031	Abnormal esophagus morphology	51741	WWOX	ORPHA:99977
HP:0002031	Abnormal esophagus morphology	51741	WWOX	OMIM:133239
HP:0002031	Abnormal esophagus morphology	9940	DLEC1	ORPHA:99977
HP:0002031	Abnormal esophagus morphology	324	APC	ORPHA:247806
HP:0002031	Abnormal esophagus morphology	324	APC	ORPHA:79665
HP:0002031	Abnormal esophagus morphology	11178	LZTS1	OMIM:133239
HP:0002031	Abnormal esophagus morphology	1630	DCC	OMIM:133239
HP:0002031	Abnormal esophagus morphology	5885	RAD21	OMIM:611376
HP:0002031	Abnormal esophagus morphology	27152	INTU	OMIM:617925
HP:0002031	Abnormal esophagus morphology	538	ATP7A	ORPHA:198
HP:0002031	Abnormal esophagus morphology	5966	REL	OMIM:619652
HP:0002031	Abnormal esophagus morphology	4221	MEN1	OMIM:131100
HP:0002031	Abnormal esophagus morphology	22900	CARD8	OMIM:619079
HP:0002031	Abnormal esophagus morphology	6135	RPL11	OMIM:612562
HP:0002031	Abnormal esophagus morphology	60684	TRAPPC11	OMIM:615356
HP:0002031	Abnormal esophagus morphology	3376	IARS1	ORPHA:541423
HP:0002031	Abnormal esophagus morphology	81031	SLC2A10	ORPHA:3342
HP:0002031	Abnormal esophagus morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002031	Abnormal esophagus morphology	9509	ADAMTS2	ORPHA:1901
HP:0002031	Abnormal esophagus morphology	6925	TCF4	ORPHA:2896
HP:0002031	Abnormal esophagus morphology	2887	GRB10	ORPHA:96182
HP:0002031	Abnormal esophagus morphology	2000	ELF4	OMIM:301074
HP:0002031	Abnormal esophagus morphology	2743	GLRB	ORPHA:3197
HP:0002031	Abnormal esophagus morphology	2741	GLRA1	ORPHA:3197
HP:0002031	Abnormal esophagus morphology	10243	GPHN	ORPHA:3197
HP:0002031	Abnormal esophagus morphology	84896	ATAD1	ORPHA:3197
HP:0002031	Abnormal esophagus morphology	9152	SLC6A5	ORPHA:3197
HP:0002031	Abnormal esophagus morphology	146206	CARMIL2	OMIM:618131
HP:0002031	Abnormal esophagus morphology	4010	LMX1B	ORPHA:495818
HP:0002031	Abnormal esophagus morphology	6812	STXBP1	ORPHA:495818
HP:0002031	Abnormal esophagus morphology	5723	PSPH	ORPHA:79350
HP:0002031	Abnormal esophagus morphology	26227	PHGDH	ORPHA:79351
HP:0002031	Abnormal esophagus morphology	1027	CDKN1B	ORPHA:276152
HP:0002031	Abnormal esophagus morphology	641	BLM	ORPHA:125
HP:0002031	Abnormal esophagus morphology	6794	STK11	ORPHA:2869
HP:0002031	Abnormal esophagus morphology	79651	RHBDF2	ORPHA:2198
HP:0002031	Abnormal esophagus morphology	2271	FH	ORPHA:523
HP:0002031	Abnormal esophagus morphology	6389	SDHA	ORPHA:44890
HP:0002031	Abnormal esophagus morphology	6390	SDHB	ORPHA:44890
HP:0002031	Abnormal esophagus morphology	6391	SDHC	ORPHA:44890
HP:0002031	Abnormal esophagus morphology	5156	PDGFRA	ORPHA:44890
HP:0002031	Abnormal esophagus morphology	3815	KIT	ORPHA:44890
HP:0002031	Abnormal esophagus morphology	5573	PRKAR1A	ORPHA:1359
HP:0002031	Abnormal esophagus morphology	50940	PDE11A	ORPHA:1359
HP:0002031	Abnormal esophagus morphology	1288	COL4A6	ORPHA:1018
HP:0002031	Abnormal esophagus morphology	1287	COL4A5	ORPHA:1018
HP:0002031	Abnormal esophagus morphology	7373	COL14A1	ORPHA:79501
HP:0002031	Abnormal esophagus morphology	79719	AAGAB	ORPHA:79501
HP:0002031	Abnormal esophagus morphology	4088	SMAD3	OMIM:613795
HP:0002031	Abnormal esophagus morphology	7046	TGFBR1	OMIM:609192
HP:0002031	Abnormal esophagus morphology	81704	DOCK8	OMIM:243700
HP:0002031	Abnormal esophagus morphology	7048	TGFBR2	OMIM:610168
HP:0002031	Abnormal esophagus morphology	1828	DSG1	OMIM:615508
HP:0002031	Abnormal esophagus morphology	7042	TGFB2	OMIM:614816
HP:0002031	Abnormal esophagus morphology	7040	TGFB1	OMIM:618213
HP:0002031	Abnormal esophagus morphology	7043	TGFB3	OMIM:615582
HP:0002032	Esophageal atresia	6657	SOX2	ORPHA:77298
HP:0002032	Esophageal atresia	6657	SOX2	OMIM:206900
HP:0002032	Esophageal atresia	6657	SOX2	ORPHA:3157
HP:0002032	Esophageal atresia	7528	YY1	ORPHA:506358
HP:0002032	Esophageal atresia	2294	FOXF1	OMIM:265380
HP:0002032	Esophageal atresia	2263	FGFR2	ORPHA:87
HP:0002032	Esophageal atresia	2263	FGFR2	OMIM:101200
HP:0002032	Esophageal atresia	2177	FANCD2	OMIM:227646
HP:0002032	Esophageal atresia	4613	MYCN	ORPHA:391641
HP:0002032	Esophageal atresia	4613	MYCN	OMIM:164280
HP:0002032	Esophageal atresia	2072	ERCC4	OMIM:615272
HP:0002032	Esophageal atresia	55120	FANCL	OMIM:614083
HP:0002032	Esophageal atresia	5339	PLEC	OMIM:226730
HP:0002032	Esophageal atresia	3691	ITGB4	OMIM:226730
HP:0002032	Esophageal atresia	2187	FANCB	OMIM:300514
HP:0002032	Esophageal atresia	2187	FANCB	OMIM:314390
HP:0002032	Esophageal atresia	2187	FANCB	ORPHA:3412
HP:0002032	Esophageal atresia	10606	PAICS	OMIM:619859
HP:0002032	Esophageal atresia	6023	RMRP	OMIM:250250
HP:0002032	Esophageal atresia	5422	POLA1	OMIM:301030
HP:0002032	Esophageal atresia	55112	DYNC2I1	ORPHA:93271
HP:0002032	Esophageal atresia	57560	IFT80	ORPHA:93271
HP:0002032	Esophageal atresia	57539	WDR35	ORPHA:93271
HP:0002032	Esophageal atresia	79659	DYNC2H1	ORPHA:93271
HP:0002032	Esophageal atresia	89891	DYNC2I2	ORPHA:93271
HP:0002032	Esophageal atresia	7547	ZIC3	OMIM:314390
HP:0002032	Esophageal atresia	51729	WBP11	OMIM:619227
HP:0002032	Esophageal atresia	55636	CHD7	OMIM:214800
HP:0002032	Esophageal atresia	10046	MAMLD1	ORPHA:95706
HP:0002032	Esophageal atresia	367	AR	ORPHA:95706
HP:0002032	Esophageal atresia	6602	SMARCD1	OMIM:618779
HP:0002032	Esophageal atresia	4990	SIX6	OMIM:206900
HP:0002032	Esophageal atresia	9343	EFTUD2	OMIM:610536
HP:0002032	Esophageal atresia	2260	FGFR1	ORPHA:3157
HP:0002032	Esophageal atresia	128674	PROKR2	ORPHA:3157
HP:0002032	Esophageal atresia	6658	SOX3	ORPHA:3157
HP:0002032	Esophageal atresia	9915	ARNT2	ORPHA:3157
HP:0002032	Esophageal atresia	8820	HESX1	ORPHA:3157
HP:0002032	Esophageal atresia	5015	OTX2	ORPHA:3157
HP:0002032	Esophageal atresia	5053	PAH	ORPHA:2209
HP:0002033	Poor suck	4728	NDUFS8	OMIM:618222
HP:0002033	Poor suck	388015	RTL1	ORPHA:254534
HP:0002033	Poor suck	8788	DLK1	ORPHA:254534
HP:0002033	Poor suck	55384	MEG3	ORPHA:254534
HP:0002033	Poor suck	57128	LYRM4	OMIM:615595
HP:0002033	Poor suck	1859	DYRK1A	ORPHA:268261
HP:0002033	Poor suck	5913	RAPSN	OMIM:616326
HP:0002033	Poor suck	51126	NAA20	OMIM:619717
HP:0002033	Poor suck	1144	CHRND	OMIM:616323
HP:0002033	Poor suck	1280	COL2A1	ORPHA:93316
HP:0002033	Poor suck	7360	UGP2	OMIM:618744
HP:0002033	Poor suck	1134	CHRNA1	OMIM:608930
HP:0002033	Poor suck	546	ATRX	OMIM:301040
HP:0002033	Poor suck	5830	PEX5	OMIM:214110
HP:0002033	Poor suck	10102	TSFM	OMIM:610505
HP:0002033	Poor suck	7681	MKRN3	OMIM:176270
HP:0002033	Poor suck	3653	IPW	OMIM:176270
HP:0002033	Poor suck	54551	MAGEL2	OMIM:176270
HP:0002033	Poor suck	54551	MAGEL2	ORPHA:398069
HP:0002033	Poor suck	54551	MAGEL2	OMIM:615547
HP:0002033	Poor suck	791114	PWRN1	OMIM:176270
HP:0002033	Poor suck	100033413	SNORD116-1	OMIM:176270
HP:0002033	Poor suck	8924	HERC2	OMIM:176270
HP:0002033	Poor suck	145624	PWAR1	OMIM:176270
HP:0002033	Poor suck	23742	NPAP1	OMIM:176270
HP:0002033	Poor suck	338433	SNORD115-1	OMIM:176270
HP:0002033	Poor suck	7314	UBB	ORPHA:99772
HP:0002033	Poor suck	57822	GRHL3	ORPHA:99772
HP:0002033	Poor suck	60482	SLC5A7	OMIM:617143
HP:0002033	Poor suck	60482	SLC5A7	ORPHA:98914
HP:0002033	Poor suck	64801	ARV1	OMIM:617020
HP:0002033	Poor suck	4487	MSX1	ORPHA:199306
HP:0002033	Poor suck	5818	NECTIN1	ORPHA:199306
HP:0002033	Poor suck	1739	DLG1	ORPHA:199306
HP:0002033	Poor suck	652	BMP4	ORPHA:199306
HP:0002033	Poor suck	8626	TP63	ORPHA:199306
HP:0002033	Poor suck	999	CDH1	ORPHA:199306
HP:0002033	Poor suck	5156	PDGFRA	ORPHA:199306
HP:0002033	Poor suck	3664	IRF6	ORPHA:199306
HP:0002033	Poor suck	9411	ARHGAP29	ORPHA:199306
HP:0002033	Poor suck	1748	DLX4	ORPHA:199306
HP:0002033	Poor suck	6576	SLC25A1	OMIM:618197
HP:0002033	Poor suck	6576	SLC25A1	ORPHA:98914
HP:0002033	Poor suck	6492	SIM1	ORPHA:171829
HP:0002033	Poor suck	51111	KMT5B	OMIM:617788
HP:0002033	Poor suck	54931	TRMT10C	OMIM:616974
HP:0002033	Poor suck	10157	AASS	ORPHA:2203
HP:0002033	Poor suck	318	NUDT2	OMIM:619844
HP:0002033	Poor suck	443	ASPA	ORPHA:314911
HP:0002033	Poor suck	3417	IDH1	ORPHA:99646
HP:0002033	Poor suck	7337	UBE3A	ORPHA:98794
HP:0002033	Poor suck	7337	UBE3A	ORPHA:98795
HP:0002033	Poor suck	7337	UBE3A	ORPHA:411511
HP:0002033	Poor suck	4948	OCA2	ORPHA:98794
HP:0002033	Poor suck	473	RERE	ORPHA:494344
HP:0002033	Poor suck	1145	CHRNE	OMIM:605809
HP:0002033	Poor suck	6601	SMARCC2	OMIM:618362
HP:0002033	Poor suck	535	ATP6V0A1	OMIM:619970
HP:0002033	Poor suck	1272	CNTN1	OMIM:612540
HP:0002033	Poor suck	80746	TSEN2	OMIM:612389
HP:0002033	Poor suck	80746	TSEN2	ORPHA:2524
HP:0002033	Poor suck	8289	ARID1A	OMIM:614607
HP:0002033	Poor suck	6598	SMARCB1	OMIM:614608
HP:0002033	Poor suck	91647	ATPAF2	OMIM:604273
HP:0002033	Poor suck	79087	ALG12	OMIM:607143
HP:0002033	Poor suck	1717	DHCR7	OMIM:270400
HP:0002033	Poor suck	3265	HRAS	ORPHA:3071
HP:0002033	Poor suck	3265	HRAS	OMIM:218040
HP:0002033	Poor suck	4556	MT-TE	ORPHA:254864
HP:0002033	Poor suck	55687	TRMU	ORPHA:254864
HP:0002033	Poor suck	25930	PTPN23	OMIM:618890
HP:0002033	Poor suck	55065	SLC52A1	OMIM:615026
HP:0002033	Poor suck	28514	DLL1	ORPHA:93926
HP:0002033	Poor suck	28514	DLL1	ORPHA:93924
HP:0002033	Poor suck	28514	DLL1	ORPHA:93925
HP:0002033	Poor suck	28514	DLL1	ORPHA:220386
HP:0002033	Poor suck	2253	FGF8	ORPHA:93926
HP:0002033	Poor suck	2253	FGF8	ORPHA:93924
HP:0002033	Poor suck	2253	FGF8	ORPHA:93925
HP:0002033	Poor suck	2253	FGF8	ORPHA:220386
HP:0002033	Poor suck	6496	SIX3	ORPHA:93926
HP:0002033	Poor suck	6496	SIX3	ORPHA:93924
HP:0002033	Poor suck	6496	SIX3	ORPHA:93925
HP:0002033	Poor suck	6496	SIX3	ORPHA:220386
HP:0002033	Poor suck	7050	TGIF1	ORPHA:93926
HP:0002033	Poor suck	7050	TGIF1	ORPHA:93924
HP:0002033	Poor suck	7050	TGIF1	ORPHA:93925
HP:0002033	Poor suck	7050	TGIF1	ORPHA:220386
HP:0002033	Poor suck	4838	NODAL	ORPHA:93926
HP:0002033	Poor suck	4838	NODAL	ORPHA:93924
HP:0002033	Poor suck	4838	NODAL	ORPHA:93925
HP:0002033	Poor suck	4838	NODAL	ORPHA:220386
HP:0002033	Poor suck	6469	SHH	ORPHA:93926
HP:0002033	Poor suck	6469	SHH	ORPHA:93924
HP:0002033	Poor suck	6469	SHH	ORPHA:93925
HP:0002033	Poor suck	6469	SHH	ORPHA:220386
HP:0002033	Poor suck	7546	ZIC2	ORPHA:93926
HP:0002033	Poor suck	7546	ZIC2	ORPHA:93924
HP:0002033	Poor suck	7546	ZIC2	ORPHA:93925
HP:0002033	Poor suck	7546	ZIC2	ORPHA:220386
HP:0002033	Poor suck	6491	STIL	ORPHA:93926
HP:0002033	Poor suck	6491	STIL	ORPHA:93924
HP:0002033	Poor suck	6491	STIL	ORPHA:93925
HP:0002033	Poor suck	6491	STIL	ORPHA:220386
HP:0002033	Poor suck	2619	GAS1	ORPHA:93926
HP:0002033	Poor suck	2619	GAS1	ORPHA:93924
HP:0002033	Poor suck	2619	GAS1	ORPHA:93925
HP:0002033	Poor suck	2619	GAS1	ORPHA:220386
HP:0002033	Poor suck	84976	DISP1	ORPHA:93926
HP:0002033	Poor suck	84976	DISP1	ORPHA:93924
HP:0002033	Poor suck	84976	DISP1	ORPHA:93925
HP:0002033	Poor suck	84976	DISP1	ORPHA:220386
HP:0002033	Poor suck	2736	GLI2	ORPHA:93926
HP:0002033	Poor suck	2736	GLI2	ORPHA:93924
HP:0002033	Poor suck	2736	GLI2	ORPHA:93925
HP:0002033	Poor suck	2736	GLI2	ORPHA:220386
HP:0002033	Poor suck	8928	FOXH1	ORPHA:93926
HP:0002033	Poor suck	8928	FOXH1	ORPHA:93924
HP:0002033	Poor suck	8928	FOXH1	ORPHA:93925
HP:0002033	Poor suck	8928	FOXH1	ORPHA:220386
HP:0002033	Poor suck	5727	PTCH1	ORPHA:93926
HP:0002033	Poor suck	5727	PTCH1	ORPHA:93924
HP:0002033	Poor suck	5727	PTCH1	ORPHA:93925
HP:0002033	Poor suck	5727	PTCH1	ORPHA:220386
HP:0002033	Poor suck	50937	CDON	ORPHA:93926
HP:0002033	Poor suck	50937	CDON	ORPHA:93924
HP:0002033	Poor suck	50937	CDON	ORPHA:93925
HP:0002033	Poor suck	50937	CDON	ORPHA:220386
HP:0002033	Poor suck	23314	SATB2	OMIM:612313
HP:0002033	Poor suck	2783	GNB2	OMIM:619503
HP:0002033	Poor suck	2260	FGFR1	ORPHA:93924
HP:0002033	Poor suck	2260	FGFR1	ORPHA:220386
HP:0002033	Poor suck	23007	PLCH1	ORPHA:93925
HP:0002033	Poor suck	10735	STAG2	ORPHA:93925
HP:0002033	Poor suck	10735	STAG2	ORPHA:220386
HP:0002033	Poor suck	5193	PEX12	OMIM:614859
HP:0002033	Poor suck	6638	SNRPN	ORPHA:177907
HP:0002033	Poor suck	4534	MTM1	ORPHA:596
HP:0002033	Poor suck	538	ATP7A	ORPHA:198
HP:0002033	Poor suck	7874	USP7	ORPHA:500055
HP:0002033	Poor suck	23126	POGZ	OMIM:616364
HP:0002033	Poor suck	6711	SPTBN1	OMIM:619475
HP:0002033	Poor suck	1103	CHAT	OMIM:254210
HP:0002033	Poor suck	1103	CHAT	ORPHA:98914
HP:0002033	Poor suck	9453	GGPS1	OMIM:619518
HP:0002033	Poor suck	5828	PEX2	OMIM:614866
HP:0002033	Poor suck	8021	NUP214	OMIM:618426
HP:0002033	Poor suck	3032	HADHB	ORPHA:746
HP:0002033	Poor suck	3030	HADHA	ORPHA:746
HP:0002033	Poor suck	526	ATP6V1B2	ORPHA:79500
HP:0002033	Poor suck	57465	TBC1D24	ORPHA:79500
HP:0002033	Poor suck	25915	NDUFAF3	ORPHA:70474
HP:0002033	Poor suck	4714	NDUFB8	ORPHA:70474
HP:0002033	Poor suck	4720	NDUFS2	ORPHA:70474
HP:0002033	Poor suck	9997	SCO2	ORPHA:70474
HP:0002033	Poor suck	6834	SURF1	ORPHA:70474
HP:0002033	Poor suck	374879	ZNF699	OMIM:619488
HP:0002033	Poor suck	7385	UQCRC2	OMIM:615160
HP:0002033	Poor suck	7204	TRIO	ORPHA:476126
HP:0002033	Poor suck	283989	TSEN54	ORPHA:2524
HP:0002033	Poor suck	283989	TSEN54	OMIM:277470
HP:0002033	Poor suck	116461	TSEN15	ORPHA:2524
HP:0002033	Poor suck	79042	TSEN34	ORPHA:2524
HP:0002033	Poor suck	51091	SEPSECS	ORPHA:2524
HP:0002033	Poor suck	1806	DPYD	ORPHA:1675
HP:0002033	Poor suck	4649	MYO9A	ORPHA:98914
HP:0002033	Poor suck	1305	COL13A1	ORPHA:98914
HP:0002033	Poor suck	6843	VAMP1	ORPHA:98914
HP:0002033	Poor suck	375790	AGRN	ORPHA:98914
HP:0002033	Poor suck	127833	SYT2	ORPHA:98914
HP:0002033	Poor suck	6572	SLC18A3	ORPHA:98914
HP:0002033	Poor suck	6616	SNAP25	ORPHA:98914
HP:0002033	Poor suck	8292	COLQ	ORPHA:98915
HP:0002033	Poor suck	3913	LAMB2	ORPHA:98915
HP:0002033	Poor suck	57038	RARS2	OMIM:611523
HP:0002033	Poor suck	7443	VRK1	OMIM:607596
HP:0002033	Poor suck	673	BRAF	OMIM:613706
HP:0002033	Poor suck	60386	SLC25A19	OMIM:607196
HP:0002033	Poor suck	4841	NONO	ORPHA:466791
HP:0002033	Poor suck	10084	PQBP1	OMIM:309500
HP:0002033	Poor suck	5805	PTS	OMIM:261640
HP:0002033	Poor suck	3798	KIF5A	OMIM:617235
HP:0002033	Poor suck	8243	SMC1A	ORPHA:220386
HP:0002033	Poor suck	7317	UBA1	ORPHA:1145
HP:0002033	Poor suck	5824	PEX19	OMIM:614886
HP:0002033	Poor suck	79651	RHBDF2	ORPHA:2198
HP:0002033	Poor suck	57731	SPTBN4	OMIM:617519
HP:0002033	Poor suck	129285	PPP1R21	OMIM:619383
HP:0002033	Poor suck	2742	GLRA2	OMIM:301076
HP:0002033	Poor suck	1892	ECHS1	OMIM:616277
HP:0002033	Poor suck	667	DST	OMIM:614653
HP:0002033	Poor suck	867	CBL	OMIM:613563
HP:0002033	Poor suck	1140	CHRNB1	OMIM:616313
HP:0002033	Poor suck	27429	HTRA2	OMIM:617248
HP:0002033	Poor suck	9373	PLAA	OMIM:617527
HP:0002033	Poor suck	6664	SOX11	OMIM:615866
HP:0002033	Poor suck	79751	SLC25A22	ORPHA:1935
HP:0002033	Poor suck	150094	SIK1	ORPHA:1935
HP:0002033	Poor suck	6888	TALDO1	OMIM:606003
HP:0002034	Abnormal rectum morphology	9361	LONP1	OMIM:600373
HP:0002034	Abnormal rectum morphology	57167	SALL4	OMIM:147750
HP:0002034	Abnormal rectum morphology	57167	SALL4	ORPHA:2307
HP:0002034	Abnormal rectum morphology	92002	CCNQ	OMIM:300707
HP:0002034	Abnormal rectum morphology	8195	MKKS	OMIM:236700
HP:0002034	Abnormal rectum morphology	3588	IL10RB	OMIM:612567
HP:0002034	Abnormal rectum morphology	3110	MNX1	OMIM:176450
HP:0002034	Abnormal rectum morphology	10653	SPINT2	OMIM:270420
HP:0002034	Abnormal rectum morphology	84172	POLR1B	ORPHA:861
HP:0002034	Abnormal rectum morphology	9533	POLR1C	ORPHA:861
HP:0002034	Abnormal rectum morphology	51082	POLR1D	ORPHA:861
HP:0002034	Abnormal rectum morphology	6949	TCOF1	ORPHA:861
HP:0002034	Abnormal rectum morphology	9401	RECQL4	OMIM:218600
HP:0002034	Abnormal rectum morphology	197131	UBR1	OMIM:243800
HP:0002034	Abnormal rectum morphology	6299	SALL1	OMIM:107480
HP:0002034	Abnormal rectum morphology	6299	SALL1	ORPHA:857
HP:0002034	Abnormal rectum morphology	267010	RNU12	OMIM:603116
HP:0002034	Abnormal rectum morphology	374654	KIF7	OMIM:200990
HP:0002034	Abnormal rectum morphology	51339	DACT1	OMIM:617466
HP:0002034	Abnormal rectum morphology	51339	DACT1	ORPHA:857
HP:0002034	Abnormal rectum morphology	1642	DDB1	OMIM:619426
HP:0002034	Abnormal rectum morphology	3718	JAK3	ORPHA:35078
HP:0002034	Abnormal rectum morphology	158326	FREM1	OMIM:608980
HP:0002034	Abnormal rectum morphology	5297	PI4KA	OMIM:619708
HP:0002034	Abnormal rectum morphology	55650	PIGV	OMIM:239300
HP:0002034	Abnormal rectum morphology	54539	NDUFB11	ORPHA:2556
HP:0002034	Abnormal rectum morphology	1349	COX7B	ORPHA:2556
HP:0002034	Abnormal rectum morphology	3052	HCCS	ORPHA:2556
HP:0002034	Abnormal rectum morphology	1277	COL1A1	ORPHA:287
HP:0002034	Abnormal rectum morphology	1289	COL5A1	ORPHA:287
HP:0002034	Abnormal rectum morphology	1290	COL5A2	ORPHA:287
HP:0002034	Abnormal rectum morphology	6197	RPS6KA3	OMIM:303600
HP:0002034	Abnormal rectum morphology	3981	LIG4	ORPHA:235
HP:0002034	Abnormal rectum morphology	54888	NSUN2	ORPHA:235
HP:0002034	Abnormal rectum morphology	6804	STX1A	ORPHA:586
HP:0002034	Abnormal rectum morphology	6804	STX1A	ORPHA:904
HP:0002034	Abnormal rectum morphology	2947	GSTM3	ORPHA:586
HP:0002034	Abnormal rectum morphology	7040	TGFB1	ORPHA:586
HP:0002034	Abnormal rectum morphology	7040	TGFB1	OMIM:219700
HP:0002034	Abnormal rectum morphology	2729	GCLC	ORPHA:586
HP:0002034	Abnormal rectum morphology	1084	CEACAM3	ORPHA:586
HP:0002034	Abnormal rectum morphology	6556	SLC11A1	ORPHA:586
HP:0002034	Abnormal rectum morphology	51164	DCTN4	ORPHA:586
HP:0002034	Abnormal rectum morphology	3783	KCNN4	ORPHA:586
HP:0002034	Abnormal rectum morphology	4282	MIF	ORPHA:586
HP:0002034	Abnormal rectum morphology	1909	EDNRA	ORPHA:586
HP:0002034	Abnormal rectum morphology	6550	SLC9A3	ORPHA:586
HP:0002034	Abnormal rectum morphology	3162	HMOX1	ORPHA:586
HP:0002034	Abnormal rectum morphology	115019	SLC26A9	ORPHA:586
HP:0002034	Abnormal rectum morphology	3077	HFE	ORPHA:586
HP:0002034	Abnormal rectum morphology	11254	SLC6A14	ORPHA:586
HP:0002034	Abnormal rectum morphology	5265	SERPINA1	ORPHA:586
HP:0002034	Abnormal rectum morphology	1080	CFTR	ORPHA:586
HP:0002034	Abnormal rectum morphology	1080	CFTR	OMIM:219700
HP:0002034	Abnormal rectum morphology	22802	CLCA4	ORPHA:586
HP:0002034	Abnormal rectum morphology	4680	CEACAM6	ORPHA:586
HP:0002034	Abnormal rectum morphology	4629	MYH11	OMIM:619350
HP:0002034	Abnormal rectum morphology	2212	FCGR2A	OMIM:219700
HP:0002034	Abnormal rectum morphology	8260	NAA10	OMIM:309800
HP:0002034	Abnormal rectum morphology	54880	BCOR	OMIM:309800
HP:0002034	Abnormal rectum morphology	4089	SMAD4	OMIM:174900
HP:0002034	Abnormal rectum morphology	657	BMPR1A	OMIM:174900
HP:0002034	Abnormal rectum morphology	657	BMPR1A	ORPHA:79076
HP:0002034	Abnormal rectum morphology	54496	PRMT7	OMIM:617157
HP:0002034	Abnormal rectum morphology	4000	LMNA	OMIM:619793
HP:0002034	Abnormal rectum morphology	8425	LTBP4	OMIM:613177
HP:0002034	Abnormal rectum morphology	6794	STK11	ORPHA:2869
HP:0002034	Abnormal rectum morphology	6794	STK11	OMIM:175200
HP:0002034	Abnormal rectum morphology	3643	INSR	ORPHA:508
HP:0002034	Abnormal rectum morphology	7461	CLIP2	ORPHA:904
HP:0002034	Abnormal rectum morphology	84277	DNAJC30	ORPHA:904
HP:0002034	Abnormal rectum morphology	8468	FKBP6	ORPHA:904
HP:0002034	Abnormal rectum morphology	5982	RFC2	ORPHA:904
HP:0002034	Abnormal rectum morphology	2969	GTF2I	ORPHA:904
HP:0002034	Abnormal rectum morphology	3984	LIMK1	ORPHA:904
HP:0002034	Abnormal rectum morphology	9569	GTF2IRD1	ORPHA:904
HP:0002034	Abnormal rectum morphology	155382	VPS37D	ORPHA:904
HP:0002034	Abnormal rectum morphology	155368	METTL27	ORPHA:904
HP:0002034	Abnormal rectum morphology	114049	BUD23	ORPHA:904
HP:0002034	Abnormal rectum morphology	7458	EIF4H	ORPHA:904
HP:0002034	Abnormal rectum morphology	84163	GTF2IRD2	ORPHA:904
HP:0002034	Abnormal rectum morphology	9275	BCL7B	ORPHA:904
HP:0002034	Abnormal rectum morphology	26608	TBL2	ORPHA:904
HP:0002034	Abnormal rectum morphology	653361	NCF1	ORPHA:904
HP:0002034	Abnormal rectum morphology	135886	TMEM270	ORPHA:904
HP:0002034	Abnormal rectum morphology	51085	MLXIPL	ORPHA:904
HP:0002034	Abnormal rectum morphology	51085	MLXIPL	OMIM:194050
HP:0002034	Abnormal rectum morphology	9031	BAZ1B	ORPHA:904
HP:0002034	Abnormal rectum morphology	2006	ELN	ORPHA:904
HP:0002034	Abnormal rectum morphology	2006	ELN	OMIM:194050
HP:0002034	Abnormal rectum morphology	5728	PTEN	ORPHA:79076
HP:0002034	Abnormal rectum morphology	147372	CCBE1	OMIM:235510
HP:0002034	Abnormal rectum morphology	1024	CDK8	OMIM:618748
HP:0002034	Abnormal rectum morphology	4688	NCF2	OMIM:233710
HP:0002034	Abnormal rectum morphology	81839	VANGL1	OMIM:600145
HP:0002034	Abnormal rectum morphology	3507	IGHM	OMIM:601495
HP:0002034	Abnormal rectum morphology	3689	ITGB2	OMIM:116920
HP:0002034	Abnormal rectum morphology	1536	CYBB	OMIM:306400
HP:0002034	Abnormal rectum morphology	1535	CYBA	OMIM:233690
HP:0002034	Abnormal rectum morphology	5880	RAC2	OMIM:608203
HP:0002034	Abnormal rectum morphology	341640	FREM2	OMIM:617666
HP:0002034	Abnormal rectum morphology	5889	RAD51C	OMIM:613390
HP:0002034	Abnormal rectum morphology	57217	TTC7A	OMIM:243150
HP:0002034	Abnormal rectum morphology	26123	TCTN3	ORPHA:2753
HP:0002034	Abnormal rectum morphology	55593	OTUD5	OMIM:301056
HP:0002034	Abnormal rectum morphology	23556	PIGN	ORPHA:280633
HP:0002034	Abnormal rectum morphology	4281	MID1	OMIM:300000
HP:0002034	Abnormal rectum morphology	1794	DOCK2	OMIM:616433
HP:0002034	Abnormal rectum morphology	4072	EPCAM	ORPHA:144
HP:0002034	Abnormal rectum morphology	4292	MLH1	ORPHA:144
HP:0002034	Abnormal rectum morphology	5395	PMS2	ORPHA:144
HP:0002034	Abnormal rectum morphology	27030	MLH3	ORPHA:144
HP:0002034	Abnormal rectum morphology	22909	FAN1	ORPHA:144
HP:0002034	Abnormal rectum morphology	7048	TGFBR2	ORPHA:144
HP:0002034	Abnormal rectum morphology	3845	KRAS	ORPHA:144
HP:0002034	Abnormal rectum morphology	5290	PIK3CA	ORPHA:144
HP:0002034	Abnormal rectum morphology	2956	MSH6	ORPHA:144
HP:0002034	Abnormal rectum morphology	2956	MSH6	OMIM:619097
HP:0002034	Abnormal rectum morphology	5378	PMS1	ORPHA:144
HP:0002034	Abnormal rectum morphology	4436	MSH2	ORPHA:144
HP:0002034	Abnormal rectum morphology	8313	AXIN2	ORPHA:401911
HP:0002034	Abnormal rectum morphology	6389	SDHA	ORPHA:44890
HP:0002034	Abnormal rectum morphology	6390	SDHB	ORPHA:44890
HP:0002034	Abnormal rectum morphology	6391	SDHC	ORPHA:44890
HP:0002034	Abnormal rectum morphology	5156	PDGFRA	ORPHA:44890
HP:0002034	Abnormal rectum morphology	3815	KIT	ORPHA:44890
HP:0002034	Abnormal rectum morphology	26585	GREM1	ORPHA:157794
HP:0002034	Abnormal rectum morphology	4913	NTHL1	ORPHA:454840
HP:0002034	Abnormal rectum morphology	64218	SEMA4A	ORPHA:440437
HP:0002034	Abnormal rectum morphology	6224	RPS20	ORPHA:440437
HP:0002034	Abnormal rectum morphology	5426	POLE	ORPHA:447877
HP:0002034	Abnormal rectum morphology	5424	POLD1	ORPHA:447877
HP:0002034	Abnormal rectum morphology	4437	MSH3	ORPHA:480536
HP:0002034	Abnormal rectum morphology	5573	PRKAR1A	ORPHA:1359
HP:0002034	Abnormal rectum morphology	50940	PDE11A	ORPHA:1359
HP:0002034	Abnormal rectum morphology	7157	TP53	ORPHA:524
HP:0002034	Abnormal rectum morphology	1029	CDKN2A	ORPHA:524
HP:0002034	Abnormal rectum morphology	4193	MDM2	ORPHA:524
HP:0002034	Abnormal rectum morphology	11200	CHEK2	ORPHA:524
HP:0002034	Abnormal rectum morphology	4595	MUTYH	ORPHA:247798
HP:0002034	Abnormal rectum morphology	2022	ENG	ORPHA:329971
HP:0002034	Abnormal rectum morphology	10483	SEC23B	ORPHA:201
HP:0002034	Abnormal rectum morphology	6392	SDHD	ORPHA:201
HP:0002034	Abnormal rectum morphology	207	AKT1	ORPHA:201
HP:0002034	Abnormal rectum morphology	205717	USF3	ORPHA:201
HP:0002034	Abnormal rectum morphology	100144748	KLLN	ORPHA:201
HP:0002034	Abnormal rectum morphology	54894	RNF43	ORPHA:157798
HP:0002034	Abnormal rectum morphology	324	APC	OMIM:135290
HP:0002034	Abnormal rectum morphology	9817	KEAP1	ORPHA:276399
HP:0002034	Abnormal rectum morphology	23405	DICER1	ORPHA:276399
HP:0002035	Rectal prolapse	1277	COL1A1	ORPHA:287
HP:0002035	Rectal prolapse	1289	COL5A1	ORPHA:287
HP:0002035	Rectal prolapse	1290	COL5A2	ORPHA:287
HP:0002035	Rectal prolapse	6197	RPS6KA3	OMIM:303600
HP:0002035	Rectal prolapse	3981	LIG4	ORPHA:235
HP:0002035	Rectal prolapse	54888	NSUN2	ORPHA:235
HP:0002035	Rectal prolapse	6804	STX1A	ORPHA:586
HP:0002035	Rectal prolapse	6804	STX1A	ORPHA:904
HP:0002035	Rectal prolapse	2947	GSTM3	ORPHA:586
HP:0002035	Rectal prolapse	7040	TGFB1	ORPHA:586
HP:0002035	Rectal prolapse	7040	TGFB1	OMIM:219700
HP:0002035	Rectal prolapse	2729	GCLC	ORPHA:586
HP:0002035	Rectal prolapse	1084	CEACAM3	ORPHA:586
HP:0002035	Rectal prolapse	6556	SLC11A1	ORPHA:586
HP:0002035	Rectal prolapse	51164	DCTN4	ORPHA:586
HP:0002035	Rectal prolapse	3783	KCNN4	ORPHA:586
HP:0002035	Rectal prolapse	4282	MIF	ORPHA:586
HP:0002035	Rectal prolapse	1909	EDNRA	ORPHA:586
HP:0002035	Rectal prolapse	6550	SLC9A3	ORPHA:586
HP:0002035	Rectal prolapse	3162	HMOX1	ORPHA:586
HP:0002035	Rectal prolapse	115019	SLC26A9	ORPHA:586
HP:0002035	Rectal prolapse	3077	HFE	ORPHA:586
HP:0002035	Rectal prolapse	11254	SLC6A14	ORPHA:586
HP:0002035	Rectal prolapse	5265	SERPINA1	ORPHA:586
HP:0002035	Rectal prolapse	1080	CFTR	ORPHA:586
HP:0002035	Rectal prolapse	1080	CFTR	OMIM:219700
HP:0002035	Rectal prolapse	22802	CLCA4	ORPHA:586
HP:0002035	Rectal prolapse	4680	CEACAM6	ORPHA:586
HP:0002035	Rectal prolapse	4629	MYH11	OMIM:619350
HP:0002035	Rectal prolapse	2212	FCGR2A	OMIM:219700
HP:0002035	Rectal prolapse	8260	NAA10	OMIM:309800
HP:0002035	Rectal prolapse	54880	BCOR	OMIM:309800
HP:0002035	Rectal prolapse	4089	SMAD4	OMIM:174900
HP:0002035	Rectal prolapse	657	BMPR1A	OMIM:174900
HP:0002035	Rectal prolapse	657	BMPR1A	ORPHA:79076
HP:0002035	Rectal prolapse	54496	PRMT7	OMIM:617157
HP:0002035	Rectal prolapse	4000	LMNA	OMIM:619793
HP:0002035	Rectal prolapse	8425	LTBP4	OMIM:613177
HP:0002035	Rectal prolapse	6794	STK11	ORPHA:2869
HP:0002035	Rectal prolapse	6794	STK11	OMIM:175200
HP:0002035	Rectal prolapse	3643	INSR	ORPHA:508
HP:0002035	Rectal prolapse	7461	CLIP2	ORPHA:904
HP:0002035	Rectal prolapse	84277	DNAJC30	ORPHA:904
HP:0002035	Rectal prolapse	8468	FKBP6	ORPHA:904
HP:0002035	Rectal prolapse	5982	RFC2	ORPHA:904
HP:0002035	Rectal prolapse	2969	GTF2I	ORPHA:904
HP:0002035	Rectal prolapse	3984	LIMK1	ORPHA:904
HP:0002035	Rectal prolapse	9569	GTF2IRD1	ORPHA:904
HP:0002035	Rectal prolapse	155382	VPS37D	ORPHA:904
HP:0002035	Rectal prolapse	155368	METTL27	ORPHA:904
HP:0002035	Rectal prolapse	114049	BUD23	ORPHA:904
HP:0002035	Rectal prolapse	7458	EIF4H	ORPHA:904
HP:0002035	Rectal prolapse	84163	GTF2IRD2	ORPHA:904
HP:0002035	Rectal prolapse	9275	BCL7B	ORPHA:904
HP:0002035	Rectal prolapse	26608	TBL2	ORPHA:904
HP:0002035	Rectal prolapse	653361	NCF1	ORPHA:904
HP:0002035	Rectal prolapse	135886	TMEM270	ORPHA:904
HP:0002035	Rectal prolapse	51085	MLXIPL	ORPHA:904
HP:0002035	Rectal prolapse	51085	MLXIPL	OMIM:194050
HP:0002035	Rectal prolapse	9031	BAZ1B	ORPHA:904
HP:0002035	Rectal prolapse	2006	ELN	ORPHA:904
HP:0002035	Rectal prolapse	2006	ELN	OMIM:194050
HP:0002035	Rectal prolapse	5728	PTEN	ORPHA:79076
HP:0002035	Rectal prolapse	147372	CCBE1	OMIM:235510
HP:0002036	Hiatus hernia	4629	MYH11	OMIM:619350
HP:0002036	Hiatus hernia	64840	PORCN	OMIM:305600
HP:0002036	Hiatus hernia	538	ATP7A	ORPHA:198
HP:0002036	Hiatus hernia	538	ATP7A	OMIM:304150
HP:0002036	Hiatus hernia	81031	SLC2A10	OMIM:208050
HP:0002036	Hiatus hernia	81031	SLC2A10	ORPHA:3342
HP:0002036	Hiatus hernia	9968	MED12	OMIM:300895
HP:0002036	Hiatus hernia	2132	EXT2	OMIM:616682
HP:0002036	Hiatus hernia	25836	NIPBL	OMIM:122470
HP:0002036	Hiatus hernia	84942	WDR73	OMIM:251300
HP:0002036	Hiatus hernia	84942	WDR73	ORPHA:2065
HP:0002036	Hiatus hernia	9719	ADAMTSL2	ORPHA:1901
HP:0002036	Hiatus hernia	9509	ADAMTS2	ORPHA:1901
HP:0002036	Hiatus hernia	6925	TCF4	ORPHA:2896
HP:0002036	Hiatus hernia	5832	ALDH18A1	OMIM:601162
HP:0002036	Hiatus hernia	1277	COL1A1	ORPHA:287
HP:0002036	Hiatus hernia	1289	COL5A1	ORPHA:287
HP:0002036	Hiatus hernia	1289	COL5A1	OMIM:619329
HP:0002036	Hiatus hernia	1290	COL5A2	ORPHA:287
HP:0002036	Hiatus hernia	7148	TNXB	OMIM:606408
HP:0002036	Hiatus hernia	113189	CHST14	OMIM:601776
HP:0002036	Hiatus hernia	715	C1R	OMIM:130080
HP:0002036	Hiatus hernia	2743	GLRB	ORPHA:3197
HP:0002036	Hiatus hernia	2743	GLRB	OMIM:614619
HP:0002036	Hiatus hernia	2741	GLRA1	ORPHA:3197
HP:0002036	Hiatus hernia	10243	GPHN	ORPHA:3197
HP:0002036	Hiatus hernia	84896	ATAD1	ORPHA:3197
HP:0002036	Hiatus hernia	9152	SLC6A5	ORPHA:3197
HP:0002036	Hiatus hernia	9152	SLC6A5	OMIM:614618
HP:0002036	Hiatus hernia	374879	ZNF699	OMIM:619488
HP:0002036	Hiatus hernia	7043	TGFB3	OMIM:615582
HP:0002036	Hiatus hernia	169792	GLIS3	OMIM:610199
HP:0002036	Hiatus hernia	23261	CAMTA1	OMIM:614756
HP:0002036	Hiatus hernia	84520	GON7	OMIM:619603
HP:0002036	Hiatus hernia	51002	TPRKB	ORPHA:2065
HP:0002036	Hiatus hernia	55644	OSGEP	ORPHA:2065
HP:0002036	Hiatus hernia	55644	OSGEP	OMIM:617729
HP:0002036	Hiatus hernia	57122	NUP107	ORPHA:2065
HP:0002036	Hiatus hernia	10785	WDR4	ORPHA:2065
HP:0002036	Hiatus hernia	55746	NUP133	ORPHA:2065
HP:0002036	Hiatus hernia	112858	TP53RK	ORPHA:2065
HP:0002036	Hiatus hernia	8270	LAGE3	ORPHA:2065
HP:0002036	Hiatus hernia	51341	ZBTB7A	OMIM:619769
HP:0002037	Inflammation of the large intestine	2165	F13B	ORPHA:331
HP:0002037	Inflammation of the large intestine	2162	F13A1	ORPHA:331
HP:0002037	Inflammation of the large intestine	3123	HLA-DRB1	OMIM:181000
HP:0002037	Inflammation of the large intestine	7454	WAS	OMIM:301000
HP:0002037	Inflammation of the large intestine	7454	WAS	ORPHA:906
HP:0002037	Inflammation of the large intestine	55612	FERMT1	ORPHA:2908
HP:0002037	Inflammation of the large intestine	331	XIAP	OMIM:300635
HP:0002037	Inflammation of the large intestine	10616	RBCK1	OMIM:615895
HP:0002037	Inflammation of the large intestine	5243	ABCB1	OMIM:612244
HP:0002037	Inflammation of the large intestine	6550	SLC9A3	OMIM:616868
HP:0002037	Inflammation of the large intestine	3257	HPS1	OMIM:203300
HP:0002037	Inflammation of the large intestine	987	LRBA	OMIM:614700
HP:0002037	Inflammation of the large intestine	7456	WIPF1	ORPHA:906
HP:0002037	Inflammation of the large intestine	8737	RIPK1	OMIM:618108
HP:0002037	Inflammation of the large intestine	4210	MEFV	ORPHA:3243
HP:0002037	Inflammation of the large intestine	10095	ARPC1B	OMIM:617718
HP:0002037	Inflammation of the large intestine	2542	SLC37A4	OMIM:232220
HP:0002037	Inflammation of the large intestine	2542	SLC37A4	OMIM:232240
HP:0002037	Inflammation of the large intestine	2542	SLC37A4	ORPHA:79259
HP:0002037	Inflammation of the large intestine	3106	HLA-B	OMIM:106300
HP:0002037	Inflammation of the large intestine	3106	HLA-B	ORPHA:29207
HP:0002037	Inflammation of the large intestine	5293	PIK3CD	OMIM:619281
HP:0002037	Inflammation of the large intestine	2000	ELF4	OMIM:301074
HP:0002037	Inflammation of the large intestine	64127	NOD2	OMIM:266600
HP:0002037	Inflammation of the large intestine	3569	IL6	OMIM:266600
HP:0002037	Inflammation of the large intestine	57511	COG6	OMIM:614576
HP:0002037	Inflammation of the large intestine	345611	IRGM	OMIM:612278
HP:0002037	Inflammation of the large intestine	59067	IL21	OMIM:615767
HP:0002037	Inflammation of the large intestine	64858	DCLRE1B	OMIM:620133
HP:0002037	Inflammation of the large intestine	5297	PI4KA	OMIM:619708
HP:0002037	Inflammation of the large intestine	9051	PSTPIP1	OMIM:604416
HP:0002037	Inflammation of the large intestine	355	FAS	ORPHA:3261
HP:0002037	Inflammation of the large intestine	356	FASLG	ORPHA:3261
HP:0002037	Inflammation of the large intestine	5580	PRKCD	ORPHA:3261
HP:0002037	Inflammation of the large intestine	843	CASP10	ORPHA:3261
HP:0002037	Inflammation of the large intestine	10125	RASGRP1	ORPHA:3261
HP:0002037	Inflammation of the large intestine	51750	RTEL1	OMIM:615190
HP:0002037	Inflammation of the large intestine	5422	POLA1	OMIM:301220
HP:0002037	Inflammation of the large intestine	7128	TNFAIP3	OMIM:616744
HP:0002037	Inflammation of the large intestine	4261	CIITA	OMIM:209920
HP:0002037	Inflammation of the large intestine	5994	RFXAP	OMIM:209920
HP:0002037	Inflammation of the large intestine	5993	RFX5	OMIM:209920
HP:0002037	Inflammation of the large intestine	8625	RFXANK	OMIM:209920
HP:0002037	Inflammation of the large intestine	10625	IVNS1ABP	OMIM:618969
HP:0002037	Inflammation of the large intestine	50943	FOXP3	ORPHA:37042
HP:0002037	Inflammation of the large intestine	6499	SKIC2	OMIM:614602
HP:0002037	Inflammation of the large intestine	6499	SKIC2	ORPHA:84064
HP:0002037	Inflammation of the large intestine	5551	PRF1	ORPHA:540
HP:0002037	Inflammation of the large intestine	8676	STX11	ORPHA:540
HP:0002037	Inflammation of the large intestine	201294	UNC13D	ORPHA:540
HP:0002037	Inflammation of the large intestine	6813	STXBP2	ORPHA:540
HP:0002037	Inflammation of the large intestine	6813	STXBP2	OMIM:613101
HP:0002037	Inflammation of the large intestine	6850	SYK	OMIM:619381
HP:0002037	Inflammation of the large intestine	8915	BCL10	OMIM:616098
HP:0002037	Inflammation of the large intestine	23149	FCHO1	OMIM:619164
HP:0002037	Inflammation of the large intestine	146206	CARMIL2	OMIM:618131
HP:0002037	Inflammation of the large intestine	9652	SKIC3	ORPHA:84064
HP:0002037	Inflammation of the large intestine	7535	ZAP70	OMIM:617006
HP:0002037	Inflammation of the large intestine	7535	ZAP70	ORPHA:911
HP:0002037	Inflammation of the large intestine	4689	NCF4	OMIM:613960
HP:0002037	Inflammation of the large intestine	338328	GPIHBP1	OMIM:615947
HP:0002037	Inflammation of the large intestine	58484	NLRC4	OMIM:616050
HP:0002037	Inflammation of the large intestine	6772	STAT1	ORPHA:391487
HP:0002037	Inflammation of the large intestine	10043	TOM1	ORPHA:391487
HP:0002037	Inflammation of the large intestine	57217	TTC7A	OMIM:243150
HP:0002037	Inflammation of the large intestine	26873	OPLAH	OMIM:260005
HP:0002037	Inflammation of the large intestine	3587	IL10RA	OMIM:613148
HP:0002037	Inflammation of the large intestine	3588	IL10RB	OMIM:612567
HP:0002037	Inflammation of the large intestine	5294	PIK3CG	OMIM:619802
HP:0002037	Inflammation of the large intestine	5979	RET	OMIM:142623
HP:0002037	Inflammation of the large intestine	1991	ELANE	ORPHA:2686
HP:0002037	Inflammation of the large intestine	84433	CARD11	OMIM:617638
HP:0002037	Inflammation of the large intestine	3716	JAK1	OMIM:618999
HP:0002037	Inflammation of the large intestine	1794	DOCK2	OMIM:616433
HP:0002037	Inflammation of the large intestine	8547	FCN3	OMIM:613860
HP:0002037	Inflammation of the large intestine	2271	FH	OMIM:606812
HP:0002037	Inflammation of the large intestine	4629	MYH11	OMIM:619350
HP:0002037	Inflammation of the large intestine	37	ACADVL	OMIM:201475
HP:0002037	Inflammation of the large intestine	84992	PIGY	OMIM:616809
HP:0002037	Inflammation of the large intestine	50619	DEF6	OMIM:619573
HP:0002037	Inflammation of the large intestine	7040	TGFB1	OMIM:618213
HP:0002037	Inflammation of the large intestine	22900	CARD8	OMIM:619079
HP:0002037	Inflammation of the large intestine	2859	GPR35	ORPHA:171
HP:0002037	Inflammation of the large intestine	10507	SEMA4D	ORPHA:171
HP:0002037	Inflammation of the large intestine	4485	MST1	ORPHA:171
HP:0002037	Inflammation of the large intestine	6925	TCF4	ORPHA:171
HP:0002037	Inflammation of the large intestine	60468	BACH2	OMIM:618394
HP:0002037	Inflammation of the large intestine	55765	INAVA	OMIM:618077
HP:0002037	Inflammation of the large intestine	10747	MASP2	OMIM:613791
HP:0002037	Inflammation of the large intestine	27178	IL37	OMIM:619398
HP:0002037	Inflammation of the large intestine	79415	CYBC1	OMIM:618935
HP:0002037	Inflammation of the large intestine	6885	MAP3K7	OMIM:617137
HP:0002037	Inflammation of the large intestine	5336	PLCG2	OMIM:614878
HP:0002038	Protein avoidance	9056	SLC7A7	OMIM:222700
HP:0002038	Protein avoidance	5009	OTC	OMIM:311250
HP:0002038	Protein avoidance	435	ASL	OMIM:207900
HP:0002038	Protein avoidance	445	ASS1	OMIM:215700
HP:0002038	Protein avoidance	1373	CPS1	OMIM:237300
HP:0002038	Protein avoidance	10166	SLC25A15	ORPHA:415
HP:0002038	Protein avoidance	10166	SLC25A15	OMIM:238970
HP:0002039	Anorexia	26191	PTPN22	ORPHA:397
HP:0002039	Anorexia	3106	HLA-B	ORPHA:397
HP:0002039	Anorexia	3106	HLA-B	ORPHA:3287
HP:0002039	Anorexia	3106	HLA-B	ORPHA:117
HP:0002039	Anorexia	3123	HLA-DRB1	ORPHA:397
HP:0002039	Anorexia	3123	HLA-DRB1	OMIM:181000
HP:0002039	Anorexia	8974	P4HA2	ORPHA:397
HP:0002039	Anorexia	171023	ASXL1	ORPHA:98850
HP:0002039	Anorexia	54790	TET2	ORPHA:98850
HP:0002039	Anorexia	54790	TET2	ORPHA:824
HP:0002039	Anorexia	867	CBL	ORPHA:98850
HP:0002039	Anorexia	861	RUNX1	ORPHA:98850
HP:0002039	Anorexia	6427	SRSF2	ORPHA:98850
HP:0002039	Anorexia	875	CBS	ORPHA:394
HP:0002039	Anorexia	3155	HMGCL	ORPHA:20
HP:0002039	Anorexia	811	CALR	ORPHA:824
HP:0002039	Anorexia	4352	MPL	ORPHA:824
HP:0002039	Anorexia	3717	JAK2	ORPHA:824
HP:0002039	Anorexia	113235	SLC46A1	ORPHA:90045
HP:0002039	Anorexia	5314	PKHD1	ORPHA:53035
HP:0002039	Anorexia	55630	SLC39A4	ORPHA:37
HP:0002039	Anorexia	249	ALPL	OMIM:241500
HP:0002039	Anorexia	3459	IFNGR1	OMIM:209950
HP:0002039	Anorexia	3459	IFNGR1	ORPHA:117
HP:0002039	Anorexia	672	BRCA1	ORPHA:70567
HP:0002039	Anorexia	672	BRCA1	ORPHA:1333
HP:0002039	Anorexia	675	BRCA2	ORPHA:70567
HP:0002039	Anorexia	675	BRCA2	ORPHA:1333
HP:0002039	Anorexia	5774	PTPN3	ORPHA:70567
HP:0002039	Anorexia	10560	SLC19A2	ORPHA:49827
HP:0002039	Anorexia	915	CD3D	ORPHA:169160
HP:0002039	Anorexia	916	CD3E	ORPHA:169160
HP:0002039	Anorexia	919	CD247	ORPHA:169160
HP:0002039	Anorexia	3141	HLCS	ORPHA:79242
HP:0002039	Anorexia	2717	GLA	ORPHA:324
HP:0002039	Anorexia	285282	RABL3	ORPHA:1333
HP:0002039	Anorexia	7157	TP53	ORPHA:1333
HP:0002039	Anorexia	3845	KRAS	ORPHA:1333
HP:0002039	Anorexia	1029	CDKN2A	ORPHA:1333
HP:0002039	Anorexia	79728	PALB2	ORPHA:1333
HP:0002039	Anorexia	4089	SMAD4	ORPHA:1333
HP:0002039	Anorexia	23022	PALLD	ORPHA:1333
HP:0002039	Anorexia	4204	MECP2	ORPHA:3077
HP:0002039	Anorexia	2313	FLI1	ORPHA:370348
HP:0002039	Anorexia	595	CCND1	ORPHA:52416
HP:0002039	Anorexia	472	ATM	ORPHA:52416
HP:0002039	Anorexia	3492	IGH	ORPHA:52416
HP:0002039	Anorexia	6521	SLC4A1	OMIM:611590
HP:0002039	Anorexia	773	CACNA1A	ORPHA:2131
HP:0002039	Anorexia	6507	SLC1A3	ORPHA:2131
HP:0002039	Anorexia	477	ATP1A2	ORPHA:2131
HP:0002039	Anorexia	478	ATP1A3	ORPHA:2131
HP:0002039	Anorexia	7040	TGFB1	ORPHA:1328
HP:0002039	Anorexia	554	AVPR2	ORPHA:223
HP:0002039	Anorexia	359	AQP2	ORPHA:223
HP:0002039	Anorexia	3662	IRF4	ORPHA:3452
HP:0002039	Anorexia	38	ACAT1	ORPHA:134
HP:0002039	Anorexia	4221	MEN1	ORPHA:652
HP:0002039	Anorexia	1027	CDKN1B	ORPHA:652
HP:0002039	Anorexia	1026	CDKN1A	ORPHA:652
HP:0002039	Anorexia	1030	CDKN2B	ORPHA:652
HP:0002039	Anorexia	1031	CDKN2C	ORPHA:652
HP:0002039	Anorexia	383	ARG1	OMIM:207800
HP:0002039	Anorexia	27249	MMADHC	ORPHA:79283
HP:0002039	Anorexia	3593	IL12B	ORPHA:3287
HP:0002039	Anorexia	6945	MLX	ORPHA:3287
HP:0002039	Anorexia	6850	SYK	OMIM:619381
HP:0002039	Anorexia	6774	STAT3	ORPHA:520
HP:0002039	Anorexia	5371	PML	ORPHA:520
HP:0002039	Anorexia	5914	RARA	ORPHA:520
HP:0002039	Anorexia	359948	IRF2BP2	ORPHA:520
HP:0002039	Anorexia	81608	FIP1L1	ORPHA:520
HP:0002039	Anorexia	4869	NPM1	ORPHA:520
HP:0002039	Anorexia	5573	PRKAR1A	ORPHA:520
HP:0002039	Anorexia	54880	BCOR	ORPHA:520
HP:0002039	Anorexia	64859	NABP1	ORPHA:520
HP:0002039	Anorexia	6777	STAT5B	ORPHA:520
HP:0002039	Anorexia	4926	NUMA1	ORPHA:520
HP:0002039	Anorexia	7704	ZBTB16	ORPHA:520
HP:0002039	Anorexia	79718	TBL1XR1	ORPHA:520
HP:0002039	Anorexia	56246	MRAP	ORPHA:361
HP:0002039	Anorexia	6770	STAR	ORPHA:361
HP:0002039	Anorexia	4158	MC2R	ORPHA:361
HP:0002039	Anorexia	23530	NNT	ORPHA:361
HP:0002039	Anorexia	10587	TXNRD2	ORPHA:361
HP:0002039	Anorexia	1616	DAXX	ORPHA:100075
HP:0002039	Anorexia	546	ATRX	ORPHA:100075
HP:0002039	Anorexia	4615	MYD88	ORPHA:33226
HP:0002039	Anorexia	9054	NFS1	OMIM:619386
HP:0002039	Anorexia	4594	MMUT	ORPHA:79312
HP:0002039	Anorexia	2629	GBA1	ORPHA:77259
HP:0002039	Anorexia	950	SCARB2	ORPHA:77259
HP:0002039	Anorexia	149233	IL23R	ORPHA:117
HP:0002039	Anorexia	6775	STAT4	ORPHA:117
HP:0002039	Anorexia	3586	IL10	ORPHA:117
HP:0002039	Anorexia	4210	MEFV	ORPHA:117
HP:0002039	Anorexia	1230	CCR1	ORPHA:117
HP:0002039	Anorexia	355	FAS	ORPHA:117
HP:0002039	Anorexia	3592	IL12A	ORPHA:117
HP:0002039	Anorexia	101928376	IL12A-AS1	ORPHA:117
HP:0002039	Anorexia	7099	TLR4	ORPHA:117
HP:0002039	Anorexia	720	C4A	ORPHA:117
HP:0002039	Anorexia	337867	UBAC2	ORPHA:117
HP:0002039	Anorexia	51752	ERAP1	ORPHA:117
HP:0002039	Anorexia	8302	KLRC4	ORPHA:117
HP:0012250	ST segment depression	7134	TNNC1	OMIM:613243
HP:0012250	ST segment depression	7092	TLL1	ORPHA:99103
HP:0012250	ST segment depression	57057	TBX20	ORPHA:99103
HP:0012250	ST segment depression	4624	MYH6	ORPHA:99103
HP:0012250	ST segment depression	1482	NKX2-5	ORPHA:99103
HP:0012250	ST segment depression	70	ACTC1	ORPHA:99103
HP:0012250	ST segment depression	10370	CITED2	ORPHA:99103
HP:0012250	ST segment depression	2626	GATA4	ORPHA:99103
HP:0012250	ST segment depression	2627	GATA6	ORPHA:99103
HP:0012250	ST segment depression	51422	PRKAG2	OMIM:261740
HP:0012250	ST segment depression	6261	RYR1	ORPHA:466650
HP:0012250	ST segment depression	1188	CLCNKB	ORPHA:358
HP:0012250	ST segment depression	6559	SLC12A3	ORPHA:358
HP:0012251	ST segment elevation	23630	KCNE5	ORPHA:130
HP:0012251	ST segment elevation	10371	SEMA3A	ORPHA:130
HP:0012251	ST segment elevation	54795	TRPM4	ORPHA:130
HP:0012251	ST segment elevation	10021	HCN4	ORPHA:130
HP:0012251	ST segment elevation	10021	HCN4	OMIM:613123
HP:0012251	ST segment elevation	3764	KCNJ8	ORPHA:130
HP:0012251	ST segment elevation	3752	KCND3	ORPHA:130
HP:0012251	ST segment elevation	3752	KCND3	OMIM:616399
HP:0012251	ST segment elevation	5318	PKP2	ORPHA:130
HP:0012251	ST segment elevation	7871	SLMAP	ORPHA:130
HP:0012251	ST segment elevation	10060	ABCC9	ORPHA:130
HP:0012251	ST segment elevation	29098	RANGRF	ORPHA:130
HP:0012251	ST segment elevation	6336	SCN10A	ORPHA:130
HP:0012251	ST segment elevation	10008	KCNE3	ORPHA:130
HP:0012251	ST segment elevation	10008	KCNE3	OMIM:613119
HP:0012251	ST segment elevation	55800	SCN3B	ORPHA:130
HP:0012251	ST segment elevation	55800	SCN3B	OMIM:613120
HP:0012251	ST segment elevation	10142	AKAP9	ORPHA:130
HP:0012251	ST segment elevation	783	CACNB2	ORPHA:130
HP:0012251	ST segment elevation	6337	SCNN1A	ORPHA:130
HP:0012251	ST segment elevation	6327	SCN2B	ORPHA:130
HP:0012251	ST segment elevation	6327	SCN2B	OMIM:615378
HP:0012251	ST segment elevation	781	CACNA2D1	ORPHA:130
HP:0012251	ST segment elevation	775	CACNA1C	ORPHA:130
HP:0012251	ST segment elevation	6324	SCN1B	ORPHA:130
HP:0012251	ST segment elevation	6324	SCN1B	OMIM:612838
HP:0012251	ST segment elevation	6331	SCN5A	ORPHA:130
HP:0012251	ST segment elevation	23171	GPD1L	ORPHA:130
HP:0012251	ST segment elevation	51422	PRKAG2	OMIM:261740
HP:0012251	ST segment elevation	2992	GYG1	ORPHA:263297
HP:0012251	ST segment elevation	2992	GYG1	OMIM:613507
HP:0012251	ST segment elevation	5428	POLG	ORPHA:94125
HP:0012253	Abnormal respiratory epithelium morphology	55172	DNAAF2	OMIM:612518
HP:0012253	Abnormal respiratory epithelium morphology	388389	CCDC103	OMIM:614679
HP:0012253	Abnormal respiratory epithelium morphology	6674	SPAG1	OMIM:615505
HP:0012253	Abnormal respiratory epithelium morphology	27019	DNAI1	OMIM:244400
HP:0012253	Abnormal respiratory epithelium morphology	56683	CFAP298	OMIM:615500
HP:0012253	Abnormal respiratory epithelium morphology	115948	ODAD3	OMIM:616037
HP:0012253	Abnormal respiratory epithelium morphology	64446	DNAI2	OMIM:612444
HP:0012253	Abnormal respiratory epithelium morphology	83544	DNAL1	OMIM:614017
HP:0012253	Abnormal respiratory epithelium morphology	1770	DNAH9	OMIM:618300
HP:0012253	Abnormal respiratory epithelium morphology	93233	ODAD1	OMIM:615067
HP:0012253	Abnormal respiratory epithelium morphology	54919	DNAAF5	OMIM:614874
HP:0012253	Abnormal respiratory epithelium morphology	123872	DNAAF1	OMIM:613193
HP:0012253	Abnormal respiratory epithelium morphology	339829	CCDC39	OMIM:613807
HP:0012253	Abnormal respiratory epithelium morphology	8701	DNAH11	OMIM:611884
HP:0012253	Abnormal respiratory epithelium morphology	84071	ARMC2	OMIM:618433
HP:0012253	Abnormal respiratory epithelium morphology	55036	CCDC40	OMIM:613808
HP:0012253	Abnormal respiratory epithelium morphology	51364	ZMYND10	OMIM:615444
HP:0012253	Abnormal respiratory epithelium morphology	85016	CFAP300	OMIM:618063
HP:0012253	Abnormal respiratory epithelium morphology	54970	TTC12	OMIM:618801
HP:0012253	Abnormal respiratory epithelium morphology	352909	DNAAF3	OMIM:606763
HP:0012253	Abnormal respiratory epithelium morphology	23639	DNAAF11	OMIM:614935
HP:0012253	Abnormal respiratory epithelium morphology	221421	RSPH9	OMIM:612650
HP:0012253	Abnormal respiratory epithelium morphology	345895	RSPH4A	OMIM:612649
HP:0012253	Abnormal respiratory epithelium morphology	374407	DNAJB13	OMIM:617091
HP:0012253	Abnormal respiratory epithelium morphology	8382	NME5	OMIM:620032
HP:0012253	Abnormal respiratory epithelium morphology	83861	RSPH3	OMIM:616481
HP:0012253	Abnormal respiratory epithelium morphology	51314	NME8	OMIM:610852
HP:0012254	Ewing sarcoma	5925	RB1	OMIM:180200
HP:0012254	Ewing sarcoma	2130	EWSR1	OMIM:612219
HP:0012254	Ewing sarcoma	23476	BRD4	ORPHA:443167
HP:0012254	Ewing sarcoma	256646	NUTM1	ORPHA:443167
HP:0012255	Dynein arm defect of respiratory motile cilia	388389	CCDC103	OMIM:614679
HP:0012255	Dynein arm defect of respiratory motile cilia	6674	SPAG1	OMIM:615505
HP:0012255	Dynein arm defect of respiratory motile cilia	27019	DNAI1	OMIM:244400
HP:0012255	Dynein arm defect of respiratory motile cilia	56683	CFAP298	OMIM:615500
HP:0012255	Dynein arm defect of respiratory motile cilia	54919	DNAAF5	OMIM:614874
HP:0012255	Dynein arm defect of respiratory motile cilia	115948	ODAD3	OMIM:616037
HP:0012255	Dynein arm defect of respiratory motile cilia	64446	DNAI2	OMIM:612444
HP:0012255	Dynein arm defect of respiratory motile cilia	83544	DNAL1	OMIM:614017
HP:0012255	Dynein arm defect of respiratory motile cilia	1770	DNAH9	OMIM:618300
HP:0012255	Dynein arm defect of respiratory motile cilia	123872	DNAAF1	OMIM:613193
HP:0012255	Dynein arm defect of respiratory motile cilia	93233	ODAD1	OMIM:615067
HP:0012255	Dynein arm defect of respiratory motile cilia	339829	CCDC39	OMIM:613807
HP:0012255	Dynein arm defect of respiratory motile cilia	51364	ZMYND10	OMIM:615444
HP:0012255	Dynein arm defect of respiratory motile cilia	85016	CFAP300	OMIM:618063
HP:0012255	Dynein arm defect of respiratory motile cilia	54970	TTC12	OMIM:618801
HP:0012255	Dynein arm defect of respiratory motile cilia	352909	DNAAF3	OMIM:606763
HP:0012255	Dynein arm defect of respiratory motile cilia	23639	DNAAF11	OMIM:614935
HP:0012255	Dynein arm defect of respiratory motile cilia	51314	NME8	OMIM:610852
HP:0012256	Absent outer dynein arms	27019	DNAI1	OMIM:244400
HP:0012256	Absent outer dynein arms	56683	CFAP298	OMIM:615500
HP:0012256	Absent outer dynein arms	54919	DNAAF5	OMIM:614874
HP:0012256	Absent outer dynein arms	115948	ODAD3	OMIM:616037
HP:0012256	Absent outer dynein arms	64446	DNAI2	OMIM:612444
HP:0012256	Absent outer dynein arms	83544	DNAL1	OMIM:614017
HP:0012256	Absent outer dynein arms	1770	DNAH9	OMIM:618300
HP:0012256	Absent outer dynein arms	123872	DNAAF1	OMIM:613193
HP:0012256	Absent outer dynein arms	93233	ODAD1	OMIM:615067
HP:0012256	Absent outer dynein arms	51364	ZMYND10	OMIM:615444
HP:0012256	Absent outer dynein arms	85016	CFAP300	OMIM:618063
HP:0012256	Absent outer dynein arms	54970	TTC12	OMIM:618801
HP:0012256	Absent outer dynein arms	352909	DNAAF3	OMIM:606763
HP:0012256	Absent outer dynein arms	23639	DNAAF11	OMIM:614935
HP:0012257	Absent inner dynein arms	54919	DNAAF5	OMIM:614874
HP:0012257	Absent inner dynein arms	123872	DNAAF1	OMIM:613193
HP:0012257	Absent inner dynein arms	339829	CCDC39	OMIM:613807
HP:0012257	Absent inner dynein arms	51364	ZMYND10	OMIM:615444
HP:0012257	Absent inner dynein arms	85016	CFAP300	OMIM:618063
HP:0012257	Absent inner dynein arms	54970	TTC12	OMIM:618801
HP:0012257	Absent inner dynein arms	352909	DNAAF3	OMIM:606763
HP:0012257	Absent inner dynein arms	23639	DNAAF11	OMIM:614935
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	8701	DNAH11	OMIM:611884
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	84071	ARMC2	OMIM:618433
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	55036	CCDC40	OMIM:613808
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	339829	CCDC39	OMIM:613807
HP:0012259	Absent inner and outer dynein arms	51364	ZMYND10	OMIM:615444
HP:0012259	Absent inner and outer dynein arms	85016	CFAP300	OMIM:618063
HP:0012259	Absent inner and outer dynein arms	54970	TTC12	OMIM:618801
HP:0012259	Absent inner and outer dynein arms	352909	DNAAF3	OMIM:606763
HP:0012259	Absent inner and outer dynein arms	23639	DNAAF11	OMIM:614935
HP:0012252	Abnormal respiratory system morphology	2332	FMR1	ORPHA:908
HP:0012252	Abnormal respiratory system morphology	5692	PSMB4	OMIM:617591
HP:0012252	Abnormal respiratory system morphology	5698	PSMB9	OMIM:617591
HP:0012252	Abnormal respiratory system morphology	3321	IGSF3	OMIM:149700
HP:0012252	Abnormal respiratory system morphology	8106	PABPN1	ORPHA:270
HP:0012252	Abnormal respiratory system morphology	63982	ANO3	ORPHA:420485
HP:0012252	Abnormal respiratory system morphology	5447	POR	OMIM:201750
HP:0012252	Abnormal respiratory system morphology	8493	PPM1D	OMIM:617450
HP:0012252	Abnormal respiratory system morphology	104	ADARB1	OMIM:618862
HP:0012252	Abnormal respiratory system morphology	6659	SOX4	OMIM:618506
HP:0012252	Abnormal respiratory system morphology	9759	HDAC4	ORPHA:1001
HP:0012252	Abnormal respiratory system morphology	91461	PKDCC	OMIM:618821
HP:0012252	Abnormal respiratory system morphology	4897	NRCAM	OMIM:619833
HP:0012252	Abnormal respiratory system morphology	10236	HNRNPR	OMIM:620073
HP:0012252	Abnormal respiratory system morphology	1303	COL12A1	ORPHA:536516
HP:0012252	Abnormal respiratory system morphology	6662	SOX9	ORPHA:140
HP:0012252	Abnormal respiratory system morphology	91179	SCARF2	OMIM:600920
HP:0012252	Abnormal respiratory system morphology	6857	SYT1	ORPHA:522077
HP:0012252	Abnormal respiratory system morphology	3020	H3-3A	OMIM:619720
HP:0012252	Abnormal respiratory system morphology	253959	RALGAPA1	OMIM:618797
HP:0012252	Abnormal respiratory system morphology	3021	H3-3B	OMIM:619721
HP:0012252	Abnormal respiratory system morphology	80816	ASXL3	OMIM:615485
HP:0012252	Abnormal respiratory system morphology	27245	AHDC1	ORPHA:412069
HP:0012252	Abnormal respiratory system morphology	27245	AHDC1	OMIM:615829
HP:0012252	Abnormal respiratory system morphology	1841	DTYMK	OMIM:619847
HP:0012252	Abnormal respiratory system morphology	4038	LRP4	ORPHA:3258
HP:0012252	Abnormal respiratory system morphology	324	APC	ORPHA:3258
HP:0012252	Abnormal respiratory system morphology	23314	SATB2	ORPHA:576283
HP:0012252	Abnormal respiratory system morphology	54496	PRMT7	OMIM:617157
HP:0012252	Abnormal respiratory system morphology	54496	PRMT7	ORPHA:464288
HP:0012252	Abnormal respiratory system morphology	2581	GALC	ORPHA:206436
HP:0012252	Abnormal respiratory system morphology	3778	KCNMA1	OMIM:618729
HP:0012252	Abnormal respiratory system morphology	157680	VPS13B	OMIM:216550
HP:0012252	Abnormal respiratory system morphology	4212	MEIS2	ORPHA:261190
HP:0012252	Abnormal respiratory system morphology	55612	FERMT1	ORPHA:2908
HP:0012252	Abnormal respiratory system morphology	389827	MYMK	ORPHA:1358
HP:0012252	Abnormal respiratory system morphology	101929726	MYMX	ORPHA:1358
HP:0012252	Abnormal respiratory system morphology	27125	AFF4	ORPHA:444077
HP:0012252	Abnormal respiratory system morphology	6926	TBX3	OMIM:181450
HP:0012252	Abnormal respiratory system morphology	1062	CENPE	OMIM:616051
HP:0012252	Abnormal respiratory system morphology	6885	MAP3K7	OMIM:617137
HP:0012252	Abnormal respiratory system morphology	6885	MAP3K7	ORPHA:1826
HP:0012252	Abnormal respiratory system morphology	79753	SNIP1	OMIM:614501
HP:0012252	Abnormal respiratory system morphology	51199	NIN	ORPHA:319675
HP:0012252	Abnormal respiratory system morphology	2697	GJA1	OMIM:218400
HP:0012252	Abnormal respiratory system morphology	6469	SHH	OMIM:147250
HP:0012252	Abnormal respiratory system morphology	57167	SALL4	OMIM:607323
HP:0012252	Abnormal respiratory system morphology	8626	TP63	OMIM:604292
HP:0012252	Abnormal respiratory system morphology	1593	CYP27A1	ORPHA:909
HP:0012252	Abnormal respiratory system morphology	10682	EBP	ORPHA:35173
HP:0012252	Abnormal respiratory system morphology	4763	NF1	ORPHA:97685
HP:0012252	Abnormal respiratory system morphology	28981	IFT81	OMIM:617895
HP:0012252	Abnormal respiratory system morphology	8425	LTBP4	OMIM:613177
HP:0012252	Abnormal respiratory system morphology	8195	MKKS	OMIM:236700
HP:0012252	Abnormal respiratory system morphology	8854	ALDH1A2	OMIM:620025
HP:0012252	Abnormal respiratory system morphology	10992	SF3B2	OMIM:164210
HP:0012252	Abnormal respiratory system morphology	81839	VANGL1	ORPHA:3027
HP:0012252	Abnormal respiratory system morphology	80199	FUZ	ORPHA:3027
HP:0012252	Abnormal respiratory system morphology	183	AGT	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	5972	REN	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	185	AGTR1	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	1636	ACE	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	57539	WDR35	ORPHA:93271
HP:0012252	Abnormal respiratory system morphology	57539	WDR35	OMIM:614091
HP:0012252	Abnormal respiratory system morphology	91754	NEK9	OMIM:617022
HP:0012252	Abnormal respiratory system morphology	4703	NEB	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	131377	KLHL40	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	10324	KLHL41	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	56203	LMOD3	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	10229	COQ7	OMIM:616733
HP:0012252	Abnormal respiratory system morphology	55784	MCTP2	ORPHA:1596
HP:0012252	Abnormal respiratory system morphology	5915	RARB	OMIM:615524
HP:0012252	Abnormal respiratory system morphology	5915	RARB	ORPHA:2470
HP:0012252	Abnormal respiratory system morphology	5189	PEX1	OMIM:214100
HP:0012252	Abnormal respiratory system morphology	56975	FAM20C	OMIM:259775
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	OMIM:265000
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	ORPHA:2990
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	51132	RLIM	OMIM:300978
HP:0012252	Abnormal respiratory system morphology	50814	NSDHL	OMIM:308050
HP:0012252	Abnormal respiratory system morphology	51008	ASCC1	OMIM:616867
HP:0012252	Abnormal respiratory system morphology	57211	ADGRG6	OMIM:616503
HP:0012252	Abnormal respiratory system morphology	3339	HSPG2	ORPHA:1865
HP:0012252	Abnormal respiratory system morphology	3339	HSPG2	OMIM:224410
HP:0012252	Abnormal respiratory system morphology	23414	ZFPM2	ORPHA:2140
HP:0012252	Abnormal respiratory system morphology	5745	PTH1R	ORPHA:50945
HP:0012252	Abnormal respiratory system morphology	3977	LIFR	OMIM:601559
HP:0012252	Abnormal respiratory system morphology	23384	SPECC1L	OMIM:145420
HP:0012252	Abnormal respiratory system morphology	27130	INVS	OMIM:602088
HP:0012252	Abnormal respiratory system morphology	26040	SETBP1	ORPHA:798
HP:0012252	Abnormal respiratory system morphology	29980	DONSON	OMIM:251230
HP:0012252	Abnormal respiratory system morphology	26227	PHGDH	OMIM:256520
HP:0012252	Abnormal respiratory system morphology	4927	NUP88	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	7846	TUBA1A	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4654	MYOD1	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4654	MYOD1	OMIM:618975
HP:0012252	Abnormal respiratory system morphology	4593	MUSK	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4593	MUSK	OMIM:208150
HP:0012252	Abnormal respiratory system morphology	5913	RAPSN	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	285489	DOK7	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	1798	DPAGT1	ORPHA:86309
HP:0012252	Abnormal respiratory system morphology	1280	COL2A1	OMIM:151210
HP:0012252	Abnormal respiratory system morphology	1280	COL2A1	ORPHA:85166
HP:0012252	Abnormal respiratory system morphology	1280	COL2A1	ORPHA:93296
HP:0012252	Abnormal respiratory system morphology	54880	BCOR	OMIM:309800
HP:0012252	Abnormal respiratory system morphology	6608	SMO	OMIM:241800
HP:0012252	Abnormal respiratory system morphology	55165	CEP55	OMIM:236500
HP:0012252	Abnormal respiratory system morphology	4716	NDUFB10	OMIM:619003
HP:0012252	Abnormal respiratory system morphology	8318	CDC45	OMIM:617063
HP:0012252	Abnormal respiratory system morphology	27031	NPHP3	OMIM:208540
HP:0012252	Abnormal respiratory system morphology	27031	NPHP3	ORPHA:3032
HP:0012252	Abnormal respiratory system morphology	163175	LGI4	OMIM:617468
HP:0012252	Abnormal respiratory system morphology	8241	RBM10	ORPHA:2886
HP:0012252	Abnormal respiratory system morphology	745	MYRF	OMIM:618280
HP:0012252	Abnormal respiratory system morphology	63895	PIEZO2	OMIM:248700
HP:0012252	Abnormal respiratory system morphology	342035	GLDN	OMIM:617194
HP:0012252	Abnormal respiratory system morphology	10269	ZMPSTE24	ORPHA:1662
HP:0012252	Abnormal respiratory system morphology	10269	ZMPSTE24	OMIM:275210
HP:0012252	Abnormal respiratory system morphology	10195	ALG3	ORPHA:79321
HP:0012252	Abnormal respiratory system morphology	57505	AARS2	OMIM:614096
HP:0012252	Abnormal respiratory system morphology	54903	MKS1	OMIM:249000
HP:0012252	Abnormal respiratory system morphology	1496	CTNNA2	OMIM:618174
HP:0012252	Abnormal respiratory system morphology	1144	CHRND	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	1134	CHRNA1	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	498	ATP5F1A	OMIM:615228
HP:0012252	Abnormal respiratory system morphology	2108	ETFA	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	2109	ETFB	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	2110	ETFDH	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	168667	BMPER	OMIM:608022
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG	ORPHA:276
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG	OMIM:312863
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG	OMIM:300400
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	411	ARSB	OMIM:253200
HP:0012252	Abnormal respiratory system morphology	6720	SREBF1	OMIM:158310
HP:0012252	Abnormal respiratory system morphology	4125	MAN2B1	ORPHA:309282
HP:0012252	Abnormal respiratory system morphology	4125	MAN2B1	ORPHA:309288
HP:0012252	Abnormal respiratory system morphology	134218	DNAJC21	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	79631	EFL1	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	51119	SBDS	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	919	CD247	ORPHA:169160
HP:0012252	Abnormal respiratory system morphology	6445	SGCG	OMIM:253700
HP:0012252	Abnormal respiratory system morphology	8456	FOXN1	OMIM:618806
HP:0012252	Abnormal respiratory system morphology	57057	TBX20	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	4624	MYH6	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	70	ACTC1	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	10370	CITED2	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	28962	OSTM1	ORPHA:85179
HP:0012252	Abnormal respiratory system morphology	54914	FOCAD	OMIM:619991
HP:0012252	Abnormal respiratory system morphology	6023	RMRP	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	100	ADA	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	100	ADA	OMIM:102700
HP:0012252	Abnormal respiratory system morphology	3575	IL7R	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	3575	IL7R	OMIM:608971
HP:0012252	Abnormal respiratory system morphology	55343	SLC35C1	OMIM:266265
HP:0012252	Abnormal respiratory system morphology	374879	ZNF699	OMIM:619488
HP:0012252	Abnormal respiratory system morphology	629	CFB	OMIM:615561
HP:0012252	Abnormal respiratory system morphology	2215	FCGR3B	ORPHA:464370
HP:0012252	Abnormal respiratory system morphology	5966	REL	OMIM:619652
HP:0012252	Abnormal respiratory system morphology	25836	NIPBL	OMIM:122470
HP:0012252	Abnormal respiratory system morphology	3594	IL12RB1	ORPHA:319552
HP:0012252	Abnormal respiratory system morphology	5903	RANBP2	OMIM:608033
HP:0012252	Abnormal respiratory system morphology	37	ACADVL	ORPHA:26793
HP:0012252	Abnormal respiratory system morphology	4054	LTBP3	OMIM:617809
HP:0012252	Abnormal respiratory system morphology	399	RHOH	OMIM:618307
HP:0012252	Abnormal respiratory system morphology	10056	FARSB	OMIM:613658
HP:0012252	Abnormal respiratory system morphology	6651	SON	ORPHA:500150
HP:0012252	Abnormal respiratory system morphology	4998	ORC1	OMIM:224690
HP:0012252	Abnormal respiratory system morphology	2717	GLA	ORPHA:324
HP:0012252	Abnormal respiratory system morphology	81620	CDT1	OMIM:613804
HP:0012252	Abnormal respiratory system morphology	3476	IGBP1	OMIM:300472
HP:0012252	Abnormal respiratory system morphology	79848	CSPP1	ORPHA:397715
HP:0012252	Abnormal respiratory system morphology	9786	KIAA0586	ORPHA:397715
HP:0012252	Abnormal respiratory system morphology	4914	NTRK1	ORPHA:642
HP:0012252	Abnormal respiratory system morphology	4784	NFIX	OMIM:602535
HP:0012252	Abnormal respiratory system morphology	23556	PIGN	ORPHA:280633
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	OMIM:230900
HP:0012252	Abnormal respiratory system morphology	535	ATP6V0A1	OMIM:619971
HP:0012252	Abnormal respiratory system morphology	4281	MID1	ORPHA:2745
HP:0012252	Abnormal respiratory system morphology	29957	SLC25A24	OMIM:612289
HP:0012252	Abnormal respiratory system morphology	7994	KAT6A	OMIM:616268
HP:0012252	Abnormal respiratory system morphology	9361	LONP1	ORPHA:79243
HP:0012252	Abnormal respiratory system morphology	5160	PDHA1	ORPHA:79243
HP:0012252	Abnormal respiratory system morphology	3431	SP110	ORPHA:79124
HP:0012252	Abnormal respiratory system morphology	378884	NHLRC1	ORPHA:501
HP:0012252	Abnormal respiratory system morphology	7957	EPM2A	ORPHA:501
HP:0012252	Abnormal respiratory system morphology	3119	HLA-DQB1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	9244	CRLF1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	3117	HLA-DQA1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	4842	NOS1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	90417	KNSTRN	ORPHA:221139
HP:0012252	Abnormal respiratory system morphology	10755	GIPC1	ORPHA:98897
HP:0012252	Abnormal respiratory system morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0012252	Abnormal respiratory system morphology	8085	KMT2D	OMIM:147920
HP:0012252	Abnormal respiratory system morphology	7403	KDM6A	OMIM:147920
HP:0012252	Abnormal respiratory system morphology	3930	LBR	OMIM:215140
HP:0012252	Abnormal respiratory system morphology	2737	GLI3	ORPHA:672
HP:0012252	Abnormal respiratory system morphology	2737	GLI3	OMIM:146510
HP:0012252	Abnormal respiratory system morphology	341640	FREM2	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	80144	FRAS1	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	23426	GRIP1	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	23426	GRIP1	OMIM:617667
HP:0012252	Abnormal respiratory system morphology	2187	FANCB	OMIM:300514
HP:0012252	Abnormal respiratory system morphology	51604	PIGT	ORPHA:369837
HP:0012252	Abnormal respiratory system morphology	284086	NEK8	OMIM:615415
HP:0012252	Abnormal respiratory system morphology	1312	COMT	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	221037	JMJD1C	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	2812	GP1BB	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	6239	RREB1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	6899	TBX1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	7290	HIRA	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	9632	SEC24C	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	7353	UFD1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	421	ARVCF	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	219844	HYLS1	OMIM:236680
HP:0012252	Abnormal respiratory system morphology	5728	PTEN	ORPHA:744
HP:0012252	Abnormal respiratory system morphology	207	AKT1	ORPHA:744
HP:0012252	Abnormal respiratory system morphology	22827	PUF60	ORPHA:508488
HP:0012252	Abnormal respiratory system morphology	1717	DHCR7	OMIM:270400
HP:0012252	Abnormal respiratory system morphology	1717	DHCR7	ORPHA:818
HP:0012252	Abnormal respiratory system morphology	79796	ALG9	ORPHA:79328
HP:0012252	Abnormal respiratory system morphology	79796	ALG9	OMIM:263210
HP:0012252	Abnormal respiratory system morphology	9184	BUB3	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	699	BUB1	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	9702	CEP57	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	9702	CEP57	OMIM:614114
HP:0012252	Abnormal respiratory system morphology	9319	TRIP13	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	701	BUB1B	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	10436	EMG1	ORPHA:1270
HP:0012252	Abnormal respiratory system morphology	2719	GPC3	OMIM:312870
HP:0012252	Abnormal respiratory system morphology	2239	GPC4	OMIM:312870
HP:0012252	Abnormal respiratory system morphology	4210	MEFV	ORPHA:342
HP:0012252	Abnormal respiratory system morphology	4210	MEFV	OMIM:249100
HP:0012252	Abnormal respiratory system morphology	4210	MEFV	OMIM:134610
HP:0012252	Abnormal respiratory system morphology	4210	MEFV	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	64127	NOD2	OMIM:617321
HP:0012252	Abnormal respiratory system morphology	2212	FCGR2A	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	2213	FCGR2B	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	26191	PTPN22	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	26191	PTPN22	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	11277	TREX1	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	1493	CTLA4	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	1493	CTLA4	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	1773	DNASE1	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	10216	PRG4	ORPHA:2848
HP:0012252	Abnormal respiratory system morphology	7132	TNFRSF1A	OMIM:142680
HP:0012252	Abnormal respiratory system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012252	Abnormal respiratory system morphology	3115	HLA-DPB1	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	5657	PRTN3	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	3662	IRF4	ORPHA:3452
HP:0012252	Abnormal respiratory system morphology	149233	IL23R	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	6775	STAT4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3586	IL10	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	1230	CCR1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	355	FAS	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3592	IL12A	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3106	HLA-B	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	7099	TLR4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3459	IFNGR1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	720	C4A	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	337867	UBAC2	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	51752	ERAP1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	8302	KLRC4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3123	HLA-DRB1	ORPHA:397
HP:0012252	Abnormal respiratory system morphology	3123	HLA-DRB1	ORPHA:797
HP:0012252	Abnormal respiratory system morphology	8974	P4HA2	ORPHA:397
HP:0012252	Abnormal respiratory system morphology	2990	GUSB	ORPHA:584
HP:0012252	Abnormal respiratory system morphology	940	CD28	ORPHA:3162
HP:0012252	Abnormal respiratory system morphology	7133	TNFRSF1B	ORPHA:3162
HP:0012252	Abnormal respiratory system morphology	10320	IKZF1	ORPHA:36426
HP:0012252	Abnormal respiratory system morphology	27238	GPKOW	ORPHA:2570
HP:0012252	Abnormal respiratory system morphology	8518	ELP1	ORPHA:1764
HP:0012252	Abnormal respiratory system morphology	201163	FLCN	ORPHA:2903
HP:0012252	Abnormal respiratory system morphology	56244	BTNL2	ORPHA:797
HP:0012252	Abnormal respiratory system morphology	8314	BAP1	ORPHA:50251
HP:0012252	Abnormal respiratory system morphology	1776	DNASE1L3	ORPHA:36412
HP:0012252	Abnormal respiratory system morphology	1289	COL5A1	OMIM:130000
HP:0012252	Abnormal respiratory system morphology	2658	GDF2	ORPHA:774
HP:0012252	Abnormal respiratory system morphology	94	ACVRL1	ORPHA:774
HP:0012252	Abnormal respiratory system morphology	1290	COL5A2	OMIM:130010
HP:0012252	Abnormal respiratory system morphology	3458	IFNG	ORPHA:805
HP:0012252	Abnormal respiratory system morphology	3593	IL12B	ORPHA:3287
HP:0012252	Abnormal respiratory system morphology	6945	MLX	ORPHA:3287
HP:0012252	Abnormal respiratory system morphology	2153	F5	ORPHA:326
HP:0012252	Abnormal respiratory system morphology	55340	GIMAP5	OMIM:619463
HP:0012252	Abnormal respiratory system morphology	84818	IL17RC	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	64581	CLEC7A	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	23765	IL17RA	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	112744	IL17F	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	7092	TLL1	ORPHA:99106
HP:0012252	Abnormal respiratory system morphology	2200	FBN1	OMIM:154700
HP:0012252	Abnormal respiratory system morphology	2200	FBN1	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	10526	IPO8	OMIM:619472
HP:0012252	Abnormal respiratory system morphology	113189	CHST14	ORPHA:2953
HP:0012252	Abnormal respiratory system morphology	113189	CHST14	OMIM:601776
HP:0012252	Abnormal respiratory system morphology	29940	DSE	ORPHA:2953
HP:0012252	Abnormal respiratory system morphology	10352	WARS2	OMIM:619738
HP:0012252	Abnormal respiratory system morphology	4088	SMAD3	OMIM:613795
HP:0012252	Abnormal respiratory system morphology	4088	SMAD3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4052	LTBP1	ORPHA:90349
HP:0012252	Abnormal respiratory system morphology	30008	EFEMP2	ORPHA:90349
HP:0012252	Abnormal respiratory system morphology	79770	TXNDC15	OMIM:619879
HP:0012252	Abnormal respiratory system morphology	3909	LAMA3	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	3918	LAMC2	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	3914	LAMB3	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	4921	DDR2	OMIM:618175
HP:0012252	Abnormal respiratory system morphology	523	ATP6V1A	OMIM:617403
HP:0012252	Abnormal respiratory system morphology	529	ATP6V1E1	OMIM:617402
HP:0012252	Abnormal respiratory system morphology	7042	TGFB2	OMIM:614816
HP:0012252	Abnormal respiratory system morphology	7042	TGFB2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	3265	HRAS	OMIM:218040
HP:0012252	Abnormal respiratory system morphology	4629	MYH11	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7046	TGFBR1	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4015	LOX	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4087	SMAD2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7043	TGFB3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	59	ACTA2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	5592	PRKG1	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	2301	FOXE3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4144	MAT2A	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	23493	HEY2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	8076	MFAP5	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4638	MYLK	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	79875	THSD4	OMIM:619825
HP:0012252	Abnormal respiratory system morphology	7048	TGFBR2	OMIM:610168
HP:0012252	Abnormal respiratory system morphology	199221	DZIP1L	ORPHA:731
HP:0012252	Abnormal respiratory system morphology	5314	PKHD1	ORPHA:731
HP:0012252	Abnormal respiratory system morphology	9508	ADAMTS3	OMIM:618154
HP:0012252	Abnormal respiratory system morphology	4791	NFKB2	ORPHA:293978
HP:0012252	Abnormal respiratory system morphology	4791	NFKB2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	695	BTK	OMIM:300755
HP:0012252	Abnormal respiratory system morphology	3071	NCKAP1L	OMIM:618982
HP:0012252	Abnormal respiratory system morphology	5238	PGM3	ORPHA:443811
HP:0012252	Abnormal respiratory system morphology	5238	PGM3	OMIM:615816
HP:0012252	Abnormal respiratory system morphology	6338	SCNN1B	OMIM:211400
HP:0012252	Abnormal respiratory system morphology	6338	SCNN1B	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	5880	RAC2	OMIM:618986
HP:0012252	Abnormal respiratory system morphology	987	LRBA	OMIM:614700
HP:0012252	Abnormal respiratory system morphology	8737	RIPK1	OMIM:618108
HP:0012252	Abnormal respiratory system morphology	6890	TAP1	OMIM:604571
HP:0012252	Abnormal respiratory system morphology	6891	TAP2	OMIM:604571
HP:0012252	Abnormal respiratory system morphology	6892	TAPBP	OMIM:604571
HP:0012252	Abnormal respiratory system morphology	9094	UNC119	OMIM:615518
HP:0012252	Abnormal respiratory system morphology	6809	STX3	OMIM:619445
HP:0012252	Abnormal respiratory system morphology	6809	STX3	OMIM:619446
HP:0012252	Abnormal respiratory system morphology	9948	WDR1	OMIM:150550
HP:0012252	Abnormal respiratory system morphology	472	ATM	OMIM:208900
HP:0012252	Abnormal respiratory system morphology	8382	NME5	OMIM:620032
HP:0012252	Abnormal respiratory system morphology	7040	TGFB1	OMIM:219700
HP:0012252	Abnormal respiratory system morphology	7040	TGFB1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	6340	SCNN1G	OMIM:613071
HP:0012252	Abnormal respiratory system morphology	6340	SCNN1G	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	6772	STAT1	OMIM:614162
HP:0012252	Abnormal respiratory system morphology	6772	STAT1	ORPHA:391487
HP:0012252	Abnormal respiratory system morphology	115650	TNFRSF13C	OMIM:240500
HP:0012252	Abnormal respiratory system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	1380	CR2	OMIM:240500
HP:0012252	Abnormal respiratory system morphology	1380	CR2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	29851	ICOS	OMIM:240500
HP:0012252	Abnormal respiratory system morphology	29851	ICOS	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	29851	ICOS	OMIM:607594
HP:0012252	Abnormal respiratory system morphology	930	CD19	OMIM:240500
HP:0012252	Abnormal respiratory system morphology	930	CD19	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	84061	MAGT1	OMIM:300853
HP:0012252	Abnormal respiratory system morphology	54453	RIN2	OMIM:613075
HP:0012252	Abnormal respiratory system morphology	3394	IRF8	OMIM:226990
HP:0012252	Abnormal respiratory system morphology	10379	IRF9	OMIM:618648
HP:0012252	Abnormal respiratory system morphology	7852	CXCR4	OMIM:193670
HP:0012252	Abnormal respiratory system morphology	7852	CXCR4	ORPHA:51636
HP:0012252	Abnormal respiratory system morphology	3572	IL6ST	OMIM:618523
HP:0012252	Abnormal respiratory system morphology	3572	IL6ST	OMIM:619752
HP:0012252	Abnormal respiratory system morphology	5426	POLE	OMIM:615139
HP:0012252	Abnormal respiratory system morphology	79991	STN1	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	1832	DSP	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	10144	FAM13A	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	23250	ATP11A	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	91039	DPP9	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	7012	TERC	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	5073	PARN	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	219972	MPEG1	OMIM:619223
HP:0012252	Abnormal respiratory system morphology	567	B2M	OMIM:241600
HP:0012252	Abnormal respiratory system morphology	7161	TP73	OMIM:619466
HP:0012252	Abnormal respiratory system morphology	7174	TPP2	OMIM:619220
HP:0012252	Abnormal respiratory system morphology	146206	CARMIL2	OMIM:618131
HP:0012252	Abnormal respiratory system morphology	4700	NDUFA6	OMIM:618253
HP:0012252	Abnormal respiratory system morphology	1729	DIAPH1	OMIM:616632
HP:0012252	Abnormal respiratory system morphology	8742	TNFSF12	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	931	MS4A1	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	975	CD81	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	359948	IRF2BP2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	1789	DNMT3B	OMIM:242860
HP:0012252	Abnormal respiratory system morphology	10043	TOM1	ORPHA:391487
HP:0012252	Abnormal respiratory system morphology	6337	SCNN1A	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	6337	SCNN1A	OMIM:613021
HP:0012252	Abnormal respiratory system morphology	23568	ARL2BP	OMIM:615434
HP:0012252	Abnormal respiratory system morphology	5295	PIK3R1	OMIM:616005
HP:0012252	Abnormal respiratory system morphology	5295	PIK3R1	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	54440	SASH3	OMIM:301082
HP:0012252	Abnormal respiratory system morphology	55719	SLF2	OMIM:620184
HP:0012252	Abnormal respiratory system morphology	3507	IGHM	OMIM:601495
HP:0012252	Abnormal respiratory system morphology	3507	IGHM	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	6804	STX1A	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	2947	GSTM3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	2729	GCLC	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	1084	CEACAM3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	6556	SLC11A1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	51164	DCTN4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3783	KCNN4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	4282	MIF	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	1909	EDNRA	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	6550	SLC9A3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3162	HMOX1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	115019	SLC26A9	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3077	HFE	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	11254	SLC6A14	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	22802	CLCA4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	4680	CEACAM6	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	54790	TET2	OMIM:619126
HP:0012252	Abnormal respiratory system morphology	641	BLM	OMIM:210900
HP:0012252	Abnormal respiratory system morphology	50615	IL21R	OMIM:615207
HP:0012252	Abnormal respiratory system morphology	10551	AGR2	OMIM:620233
HP:0012252	Abnormal respiratory system morphology	85452	CFAP74	OMIM:620197
HP:0012252	Abnormal respiratory system morphology	925	CD8A	OMIM:608957
HP:0012252	Abnormal respiratory system morphology	84905	ZNF341	OMIM:618282
HP:0012252	Abnormal respiratory system morphology	11117	EMILIN1	OMIM:620080
HP:0012252	Abnormal respiratory system morphology	27040	LAT	OMIM:617514
HP:0012252	Abnormal respiratory system morphology	10516	FBLN5	ORPHA:90348
HP:0012252	Abnormal respiratory system morphology	5832	ALDH18A1	ORPHA:90348
HP:0012252	Abnormal respiratory system morphology	84433	CARD11	OMIM:617638
HP:0012252	Abnormal respiratory system morphology	3514	IGKC	ORPHA:183675
HP:0012252	Abnormal respiratory system morphology	3501	IGHG2	ORPHA:183675
HP:0012252	Abnormal respiratory system morphology	6850	SYK	OMIM:619381
HP:0012252	Abnormal respiratory system morphology	96459	FNIP1	OMIM:619705
HP:0012252	Abnormal respiratory system morphology	55315	SLC29A3	ORPHA:168569
HP:0012252	Abnormal respiratory system morphology	9138	ARHGEF1	OMIM:618459
HP:0012252	Abnormal respiratory system morphology	5297	PI4KA	OMIM:619708
HP:0012252	Abnormal respiratory system morphology	6929	TCF3	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	973	CD79A	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	974	CD79B	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	3543	IGLL1	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	29760	BLNK	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	56262	LRRC8A	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	356	FASLG	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	5580	PRKCD	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	843	CASP10	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	10125	RASGRP1	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	330	BIRC3	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	10892	MALT1	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	27086	FOXP1	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	3492	IGH	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	8915	BCL10	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	5156	PDGFRA	OMIM:607685
HP:0012252	Abnormal respiratory system morphology	3043	HBB	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	53335	BCL11A	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	10661	KLF1	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	3047	HBG1	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	3048	HBG2	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	7317	UBA1	OMIM:301054
HP:0012252	Abnormal respiratory system morphology	7248	TSC1	ORPHA:538
HP:0012252	Abnormal respiratory system morphology	7249	TSC2	ORPHA:538
HP:0012252	Abnormal respiratory system morphology	9663	LPIN2	ORPHA:77297
HP:0012252	Abnormal respiratory system morphology	348	APOE	ORPHA:158029
HP:0012252	Abnormal respiratory system morphology	5557	PRIM1	OMIM:620005
HP:0012252	Abnormal respiratory system morphology	4615	MYD88	ORPHA:33226
HP:0012252	Abnormal respiratory system morphology	254428	SLC41A1	OMIM:619468
HP:0012252	Abnormal respiratory system morphology	1794	DOCK2	OMIM:616433
HP:0012252	Abnormal respiratory system morphology	1235	CCR6	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	1490	CCN2	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	3663	IRF5	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	857	CAV1	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	3559	IL2RA	OMIM:606367
HP:0012252	Abnormal respiratory system morphology	7080	NKX2-1	OMIM:610978
HP:0012252	Abnormal respiratory system morphology	5873	RAB27A	ORPHA:79477
HP:0012252	Abnormal respiratory system morphology	83483	PLVAP	OMIM:618183
HP:0012252	Abnormal respiratory system morphology	144811	LACC1	ORPHA:85414
HP:0012252	Abnormal respiratory system morphology	3569	IL6	ORPHA:85414
HP:0012252	Abnormal respiratory system morphology	51422	PRKAG2	OMIM:261740
HP:0012252	Abnormal respiratory system morphology	595	CCND1	ORPHA:29073
HP:0012252	Abnormal respiratory system morphology	3702	ITK	OMIM:613011
HP:0012252	Abnormal respiratory system morphology	9780	PIEZO1	OMIM:616843
HP:0012252	Abnormal respiratory system morphology	2548	GAA	OMIM:232300
HP:0012252	Abnormal respiratory system morphology	25821	MTO1	OMIM:614702
HP:0012252	Abnormal respiratory system morphology	6696	SPP1	ORPHA:93552
HP:0012252	Abnormal respiratory system morphology	3654	IRAK1	ORPHA:93552
HP:0012252	Abnormal respiratory system morphology	596	BCL2	ORPHA:545
HP:0012252	Abnormal respiratory system morphology	604	BCL6	ORPHA:545
HP:0012252	Abnormal respiratory system morphology	11330	CTRC	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	6690	SPINK1	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	5645	PRSS2	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	5644	PRSS1	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	81	ACTN4	OMIM:603278
HP:0012252	Abnormal respiratory system morphology	84162	BLTP1	OMIM:617822
HP:0012252	Abnormal respiratory system morphology	202018	TAPT1	OMIM:616897
HP:0012252	Abnormal respiratory system morphology	3832	KIF11	ORPHA:2526
HP:0012252	Abnormal respiratory system morphology	3075	CFH	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	3426	CFI	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	4179	CD46	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	101101692	HELLPAR	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	54345	SOX18	ORPHA:69735
HP:0012252	Abnormal respiratory system morphology	64135	IFIH1	OMIM:182250
HP:0012252	Abnormal respiratory system morphology	2859	GPR35	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	10507	SEMA4D	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	4485	MST1	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	6925	TCF4	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	50619	DEF6	OMIM:619573
HP:0012252	Abnormal respiratory system morphology	11274	USP18	OMIM:617397
HP:0012252	Abnormal respiratory system morphology	738	VPS51	OMIM:618606
HP:0012252	Abnormal respiratory system morphology	2492	FSHR	ORPHA:64739
HP:0012252	Abnormal respiratory system morphology	147372	CCBE1	OMIM:235510
HP:0012252	Abnormal respiratory system morphology	1130	LYST	ORPHA:167
HP:0012252	Abnormal respiratory system morphology	1536	CYBB	OMIM:306400
HP:0012252	Abnormal respiratory system morphology	10203	CALCRL	OMIM:618773
HP:0012252	Abnormal respiratory system morphology	79415	CYBC1	OMIM:618935
HP:0012252	Abnormal respiratory system morphology	9971	NR1H4	OMIM:617049
HP:0012252	Abnormal respiratory system morphology	950	SCARB2	OMIM:254900
HP:0012252	Abnormal respiratory system morphology	650	BMP2	OMIM:235200
HP:0012252	Abnormal respiratory system morphology	8367	H4C5	OMIM:619950
HP:0012252	Abnormal respiratory system morphology	5393	EXOSC9	OMIM:618065
HP:0012252	Abnormal respiratory system morphology	5631	PRPS1	ORPHA:411543
HP:0012252	Abnormal respiratory system morphology	7360	UGP2	OMIM:618744
HP:0012252	Abnormal respiratory system morphology	128178	EDARADD	OMIM:614941
HP:0012252	Abnormal respiratory system morphology	249	ALPL	OMIM:241500
HP:0012252	Abnormal respiratory system morphology	613	BCR	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	1399	CRKL	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	5594	MAPK1	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	51506	UFC1	OMIM:618076
HP:0012252	Abnormal respiratory system morphology	283489	CHAMP1	OMIM:616579
HP:0012252	Abnormal respiratory system morphology	65082	VPS33A	OMIM:617303
HP:0012252	Abnormal respiratory system morphology	65082	VPS33A	ORPHA:505248
HP:0012252	Abnormal respiratory system morphology	25782	RAB3GAP2	OMIM:212720
HP:0012252	Abnormal respiratory system morphology	5818	NECTIN1	ORPHA:3253
HP:0012252	Abnormal respiratory system morphology	55768	NGLY1	ORPHA:404454
HP:0012252	Abnormal respiratory system morphology	55768	NGLY1	OMIM:615273
HP:0012252	Abnormal respiratory system morphology	7535	ZAP70	OMIM:269840
HP:0012252	Abnormal respiratory system morphology	54	ACP5	OMIM:607944
HP:0012252	Abnormal respiratory system morphology	51360	MBTPS2	ORPHA:2273
HP:0012252	Abnormal respiratory system morphology	57492	ARID1B	OMIM:135900
HP:0012252	Abnormal respiratory system morphology	284058	KANSL1	ORPHA:363958
HP:0012252	Abnormal respiratory system morphology	284058	KANSL1	ORPHA:363965
HP:0012252	Abnormal respiratory system morphology	6261	RYR1	OMIM:255320
HP:0012252	Abnormal respiratory system morphology	6261	RYR1	ORPHA:424107
HP:0012252	Abnormal respiratory system morphology	6261	RYR1	ORPHA:98905
HP:0012252	Abnormal respiratory system morphology	92579	G6PC3	OMIM:612541
HP:0012252	Abnormal respiratory system morphology	9326	ZNHIT3	ORPHA:2836
HP:0012252	Abnormal respiratory system morphology	547	KIF1A	ORPHA:2836
HP:0012252	Abnormal respiratory system morphology	340061	STING1	OMIM:615934
HP:0012252	Abnormal respiratory system morphology	64359	NXN	ORPHA:1507
HP:0012252	Abnormal respiratory system morphology	4920	ROR2	ORPHA:1507
HP:0012252	Abnormal respiratory system morphology	5896	RAG1	OMIM:233650
HP:0012252	Abnormal respiratory system morphology	5897	RAG2	OMIM:233650
HP:0012252	Abnormal respiratory system morphology	100303755	PET117	OMIM:619063
HP:0012252	Abnormal respiratory system morphology	171023	ASXL1	ORPHA:97297
HP:0012252	Abnormal respiratory system morphology	57190	SELENON	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	58	ACTA1	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	4633	MYL2	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	3679	ITGA7	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	7169	TPM2	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	9200	HACD1	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	7170	TPM3	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	51776	MAP3K20	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	28755	TRAC	OMIM:615387
HP:0012252	Abnormal respiratory system morphology	79813	EHMT1	OMIM:610253
HP:0012252	Abnormal respiratory system morphology	3070	HELLS	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	83879	CDCA7	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	9841	ZBTB24	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	2752	GLUL	OMIM:610015
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	OMIM:607014
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	OMIM:607015
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	ORPHA:93473
HP:0012252	Abnormal respiratory system morphology	175	AGA	ORPHA:93
HP:0012252	Abnormal respiratory system morphology	175	AGA	OMIM:208400
HP:0012252	Abnormal respiratory system morphology	2214	FCGR3A	OMIM:615707
HP:0012252	Abnormal respiratory system morphology	4853	NOTCH2	ORPHA:955
HP:0012252	Abnormal respiratory system morphology	113278	SLC52A3	OMIM:211530
HP:0012252	Abnormal respiratory system morphology	4534	MTM1	ORPHA:596
HP:0012252	Abnormal respiratory system morphology	30011	SH3KBP1	OMIM:300310
HP:0012252	Abnormal respiratory system morphology	57217	TTC7A	OMIM:243150
HP:0012252	Abnormal respiratory system morphology	55773	TBC1D23	OMIM:617695
HP:0012252	Abnormal respiratory system morphology	79633	FAT4	ORPHA:2136
HP:0012252	Abnormal respiratory system morphology	7454	WAS	ORPHA:906
HP:0012252	Abnormal respiratory system morphology	7456	WIPF1	ORPHA:906
HP:0012252	Abnormal respiratory system morphology	8364	H4C3	OMIM:619758
HP:0012252	Abnormal respiratory system morphology	11128	POLR3A	OMIM:264090
HP:0012252	Abnormal respiratory system morphology	3675	ITGA3	OMIM:614748
HP:0012252	Abnormal respiratory system morphology	2624	GATA2	ORPHA:3226
HP:0012252	Abnormal respiratory system morphology	4644	MYO5A	ORPHA:33445
HP:0012252	Abnormal respiratory system morphology	2316	FLNA	ORPHA:2484
HP:0012252	Abnormal respiratory system morphology	2316	FLNA	OMIM:309350
HP:0012252	Abnormal respiratory system morphology	9772	TMEM94	OMIM:618316
HP:0012252	Abnormal respiratory system morphology	917	CD3G	OMIM:615607
HP:0012252	Abnormal respiratory system morphology	9338	TCEAL1	OMIM:301094
HP:0012252	Abnormal respiratory system morphology	26154	ABCA12	ORPHA:457
HP:0012252	Abnormal respiratory system morphology	26154	ABCA12	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	3718	JAK3	ORPHA:35078
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177907
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:398069
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	145873	MESP2	OMIM:608681
HP:0012252	Abnormal respiratory system morphology	145873	MESP2	OMIM:277300
HP:0012252	Abnormal respiratory system morphology	57724	EPG5	OMIM:242840
HP:0012252	Abnormal respiratory system morphology	57724	EPG5	ORPHA:1493
HP:0012252	Abnormal respiratory system morphology	8242	KDM5C	OMIM:300534
HP:0012252	Abnormal respiratory system morphology	197258	FCSK	OMIM:618324
HP:0012252	Abnormal respiratory system morphology	79989	IFT56	OMIM:619534
HP:0012252	Abnormal respiratory system morphology	84522	JAGN1	OMIM:616022
HP:0012252	Abnormal respiratory system morphology	50943	FOXP3	ORPHA:37042
HP:0012252	Abnormal respiratory system morphology	3551	IKBKB	OMIM:618204
HP:0012252	Abnormal respiratory system morphology	23219	FBXO28	OMIM:619777
HP:0012252	Abnormal respiratory system morphology	916	CD3E	OMIM:615615
HP:0012252	Abnormal respiratory system morphology	51322	WAC	ORPHA:466950
HP:0012252	Abnormal respiratory system morphology	915	CD3D	OMIM:615617
HP:0012252	Abnormal respiratory system morphology	6509	SLC1A4	ORPHA:447997
HP:0012252	Abnormal respiratory system morphology	79087	ALG12	ORPHA:79324
HP:0012252	Abnormal respiratory system morphology	2000	ELF4	OMIM:301074
HP:0012252	Abnormal respiratory system morphology	6595	SMARCA2	OMIM:601358
HP:0012252	Abnormal respiratory system morphology	7227	TRPS1	OMIM:190350
HP:0012252	Abnormal respiratory system morphology	51053	GMNN	OMIM:616835
HP:0012252	Abnormal respiratory system morphology	7319	UBE2A	ORPHA:163956
HP:0012252	Abnormal respiratory system morphology	5062	PAK2	OMIM:618458
HP:0012252	Abnormal respiratory system morphology	1828	DSG1	OMIM:615508
HP:0012252	Abnormal respiratory system morphology	79751	SLC25A22	ORPHA:1935
HP:0012252	Abnormal respiratory system morphology	150094	SIK1	ORPHA:1935
HP:0012252	Abnormal respiratory system morphology	5830	PEX5	OMIM:616716
HP:0012252	Abnormal respiratory system morphology	219285	SAMD9L	ORPHA:2585
HP:0012252	Abnormal respiratory system morphology	204	AK2	ORPHA:33355
HP:0012252	Abnormal respiratory system morphology	4126	MANBA	ORPHA:118
HP:0012252	Abnormal respiratory system morphology	331	XIAP	OMIM:300635
HP:0012252	Abnormal respiratory system morphology	331	XIAP	OMIM:308240
HP:0012252	Abnormal respiratory system morphology	10806	SDCCAG8	OMIM:615993
HP:0012252	Abnormal respiratory system morphology	23394	ADNP	OMIM:615873
HP:0012252	Abnormal respiratory system morphology	8818	DPM2	ORPHA:329178
HP:0012252	Abnormal respiratory system morphology	4173	MCM4	OMIM:609981
HP:0012252	Abnormal respiratory system morphology	113235	SLC46A1	ORPHA:90045
HP:0012252	Abnormal respiratory system morphology	7681	MKRN3	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	3653	IPW	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	791114	PWRN1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	8924	HERC2	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	145624	PWAR1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	23742	NPAP1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	338433	SNORD115-1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	3981	LIG4	OMIM:606593
HP:0012252	Abnormal respiratory system morphology	7372	UMPS	ORPHA:30
HP:0012252	Abnormal respiratory system morphology	57379	AICDA	OMIM:605258
HP:0012252	Abnormal respiratory system morphology	1387	CREBBP	ORPHA:353281
HP:0012252	Abnormal respiratory system morphology	1387	CREBBP	ORPHA:353277
HP:0012252	Abnormal respiratory system morphology	57511	COG6	ORPHA:363523
HP:0012252	Abnormal respiratory system morphology	23114	NFASC	OMIM:618356
HP:0012252	Abnormal respiratory system morphology	4792	NFKBIA	OMIM:612132
HP:0012252	Abnormal respiratory system morphology	6606	SMN1	OMIM:253550
HP:0012252	Abnormal respiratory system morphology	6606	SMN1	OMIM:253300
HP:0012252	Abnormal respiratory system morphology	6905	TBCE	ORPHA:2323
HP:0012252	Abnormal respiratory system morphology	83479	DDX59	OMIM:174300
HP:0012252	Abnormal respiratory system morphology	6492	SIM1	ORPHA:398079
HP:0012252	Abnormal respiratory system morphology	5660	PSAP	ORPHA:139406
HP:0012252	Abnormal respiratory system morphology	114803	MYSM1	OMIM:618116
HP:0012252	Abnormal respiratory system morphology	2033	EP300	ORPHA:353284
HP:0012252	Abnormal respiratory system morphology	59067	IL21	OMIM:615767
HP:0012252	Abnormal respiratory system morphology	10683	DLL3	OMIM:277300
HP:0012252	Abnormal respiratory system morphology	4952	OCRL	ORPHA:534
HP:0012252	Abnormal respiratory system morphology	4068	SH2D1A	OMIM:308240
HP:0012252	Abnormal respiratory system morphology	79158	GNPTAB	ORPHA:576
HP:0012252	Abnormal respiratory system morphology	5994	RFXAP	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	4261	CIITA	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	5993	RFX5	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	8625	RFXANK	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	57551	TAOK1	OMIM:619575
HP:0012252	Abnormal respiratory system morphology	4621	MYH3	OMIM:193700
HP:0012252	Abnormal respiratory system morphology	6335	SCN9A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	11280	SCN11A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	6336	SCN10A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	55764	IFT122	OMIM:218330
HP:0012252	Abnormal respiratory system morphology	7703	PCGF2	OMIM:618371
HP:0012252	Abnormal respiratory system morphology	774	CACNA1B	OMIM:618497
HP:0012252	Abnormal respiratory system morphology	4478	MSN	OMIM:300988
HP:0012252	Abnormal respiratory system morphology	51300	TIMMDC1	OMIM:618251
HP:0012252	Abnormal respiratory system morphology	8802	SUCLG1	ORPHA:17
HP:0012252	Abnormal respiratory system morphology	3560	IL2RB	OMIM:618495
HP:0012252	Abnormal respiratory system morphology	860	RUNX2	ORPHA:1452
HP:0012252	Abnormal respiratory system morphology	25839	COG4	OMIM:613489
HP:0012252	Abnormal respiratory system morphology	8883	NAE1	OMIM:620210
HP:0012252	Abnormal respiratory system morphology	2313	FLI1	ORPHA:2308
HP:0012252	Abnormal respiratory system morphology	151516	ASPRV1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	242	ALOX12B	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	126410	CYP4F22	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	6820	SULT2B1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	643418	LIPN	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	59344	ALOXE3	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	348938	NIPAL4	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	121214	SDR9C7	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	7051	TGM1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	1075	CTSC	ORPHA:678
HP:0012252	Abnormal respiratory system morphology	8943	AP3D1	OMIM:617050
HP:0012252	Abnormal respiratory system morphology	2517	FUCA1	OMIM:230000
HP:0012252	Abnormal respiratory system morphology	84665	MYPN	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	2318	FLNC	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	7139	TNNT2	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	7137	TNNI3	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	10112	KIF20A	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	5184	PEPD	ORPHA:742
HP:0012252	Abnormal respiratory system morphology	3636	INPPL1	OMIM:258480
HP:0012252	Abnormal respiratory system morphology	3636	INPPL1	ORPHA:2746
HP:0012252	Abnormal respiratory system morphology	2077	ERF	OMIM:617180
HP:0012252	Abnormal respiratory system morphology	374354	NHLRC2	OMIM:618278
HP:0012252	Abnormal respiratory system morphology	55617	TASP1	OMIM:618950
HP:0012252	Abnormal respiratory system morphology	8239	USP9X	OMIM:300968
HP:0012252	Abnormal respiratory system morphology	51124	IER3IP1	OMIM:614231
HP:0012252	Abnormal respiratory system morphology	57477	SHROOM4	ORPHA:85288
HP:0012252	Abnormal respiratory system morphology	83737	ITCH	OMIM:613385
HP:0012252	Abnormal respiratory system morphology	84340	GFM2	OMIM:618397
HP:0012252	Abnormal respiratory system morphology	10398	MYL9	OMIM:619365
HP:0012252	Abnormal respiratory system morphology	10293	TRAIP	OMIM:616777
HP:0012252	Abnormal respiratory system morphology	6911	TBX6	ORPHA:1797
HP:0012252	Abnormal respiratory system morphology	11005	SPINK5	OMIM:256500
HP:0012252	Abnormal respiratory system morphology	11005	SPINK5	ORPHA:634
HP:0012252	Abnormal respiratory system morphology	2890	GRIA1	OMIM:619927
HP:0012252	Abnormal respiratory system morphology	7297	TYK2	OMIM:611521
HP:0012252	Abnormal respiratory system morphology	60482	SLC5A7	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	4649	MYO9A	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1305	COL13A1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1103	CHAT	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6576	SLC25A1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6843	VAMP1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	375790	AGRN	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	127833	SYT2	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6572	SLC18A3	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6616	SNAP25	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1893	ECM1	ORPHA:530
HP:0012252	Abnormal respiratory system morphology	9895	TECPR2	ORPHA:320385
HP:0012252	Abnormal respiratory system morphology	4938	OAS1	OMIM:618042
HP:0012252	Abnormal respiratory system morphology	8651	SOCS1	OMIM:619375
HP:0012252	Abnormal respiratory system morphology	5116	PCNT	ORPHA:2637
HP:0012252	Abnormal respiratory system morphology	5430	POLR2A	OMIM:618603
HP:0012252	Abnormal respiratory system morphology	23522	KAT6B	ORPHA:3047
HP:0012252	Abnormal respiratory system morphology	9897	WASHC5	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	28952	CCDC22	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	4860	PNP	ORPHA:760
HP:0012252	Abnormal respiratory system morphology	4204	MECP2	OMIM:300260
HP:0012252	Abnormal respiratory system morphology	129285	PPP1R21	OMIM:619383
HP:0012252	Abnormal respiratory system morphology	406932	MIR140	OMIM:618618
HP:0012252	Abnormal respiratory system morphology	6688	SPI1	OMIM:619707
HP:0012252	Abnormal respiratory system morphology	25871	NEPRO	OMIM:618853
HP:0012252	Abnormal respiratory system morphology	9325	TRIP4	ORPHA:486815
HP:0012252	Abnormal respiratory system morphology	55213	RCBTB1	OMIM:617175
HP:0012252	Abnormal respiratory system morphology	3257	HPS1	OMIM:203300
HP:0012252	Abnormal respiratory system morphology	79932	KIAA0319L	ORPHA:220402
HP:0012252	Abnormal respiratory system morphology	5339	PLEC	ORPHA:254361
HP:0012252	Abnormal respiratory system morphology	89781	HPS4	OMIM:614073
HP:0012252	Abnormal respiratory system morphology	55596	ZCCHC8	OMIM:618674
HP:0012252	Abnormal respiratory system morphology	4141	MARS1	OMIM:615486
HP:0012252	Abnormal respiratory system morphology	79803	HPS6	OMIM:614075
HP:0012252	Abnormal respiratory system morphology	137682	NDUFAF6	OMIM:618913
HP:0012252	Abnormal respiratory system morphology	137682	NDUFAF6	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	3557	IL1RN	OMIM:612852
HP:0012252	Abnormal respiratory system morphology	6117	RPA1	OMIM:619767
HP:0012252	Abnormal respiratory system morphology	1962	EHHADH	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	2628	GATM	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	6569	SLC34A1	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	10577	NPC2	OMIM:607625
HP:0012252	Abnormal respiratory system morphology	7157	TP53	OMIM:618165
HP:0012252	Abnormal respiratory system morphology	8546	AP3B1	OMIM:608233
HP:0012252	Abnormal respiratory system morphology	29893	PSMC3IP	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	171568	POLR3H	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	2516	NR5A1	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	125150	ZSWIM7	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	9210	BMP15	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	57122	NUP107	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	23514	SPIDR	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	56945	MRPS22	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	646	BNC1	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	57187	THOC2	ORPHA:457240
HP:0012252	Abnormal respiratory system morphology	374393	FAM111B	OMIM:615704
HP:0012252	Abnormal respiratory system morphology	6609	SMPD1	OMIM:607616
HP:0012252	Abnormal respiratory system morphology	6609	SMPD1	OMIM:257200
HP:0012252	Abnormal respiratory system morphology	10054	UBA2	OMIM:619959
HP:0012252	Abnormal respiratory system morphology	7461	CLIP2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	84277	DNAJC30	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	8468	FKBP6	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	5982	RFC2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	2969	GTF2I	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	3984	LIMK1	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	155382	VPS37D	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	155368	METTL27	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	114049	BUD23	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	7458	EIF4H	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	9275	BCL7B	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	26608	TBL2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	653361	NCF1	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	653361	NCF1	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	135886	TMEM270	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	51085	MLXIPL	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	9031	BAZ1B	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	5979	RET	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	8516	ITGA8	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	26281	FGF20	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	2674	GFRA1	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	7484	WNT9B	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	80000	GREB1L	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	6558	SLC12A2	OMIM:619083
HP:0012252	Abnormal respiratory system morphology	84172	POLR1B	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	9533	POLR1C	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	51082	POLR1D	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	6949	TCOF1	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	6299	SALL1	OMIM:107480
HP:0012252	Abnormal respiratory system morphology	7547	ZIC3	OMIM:314390
HP:0012252	Abnormal respiratory system morphology	55788	LMBRD1	OMIM:277380
HP:0012252	Abnormal respiratory system morphology	55636	CHD7	ORPHA:138
HP:0012252	Abnormal respiratory system morphology	55636	CHD7	OMIM:214800
HP:0012252	Abnormal respiratory system morphology	9723	SEMA3E	ORPHA:138
HP:0012252	Abnormal respiratory system morphology	4688	NCF2	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	1535	CYBA	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	4689	NCF4	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	6657	SOX2	ORPHA:77298
HP:0012252	Abnormal respiratory system morphology	6657	SOX2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	4854	NOTCH3	ORPHA:2591
HP:0012252	Abnormal respiratory system morphology	5159	PDGFRB	ORPHA:2591
HP:0012252	Abnormal respiratory system morphology	2177	FANCD2	OMIM:227646
HP:0012252	Abnormal respiratory system morphology	2177	FANCD2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55120	FANCL	OMIM:614083
HP:0012252	Abnormal respiratory system morphology	55120	FANCL	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	10606	PAICS	OMIM:619859
HP:0012252	Abnormal respiratory system morphology	7476	WNT7A	ORPHA:2879
HP:0012252	Abnormal respiratory system morphology	672	BRCA1	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	10459	MAD2L2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	7516	XRCC2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	29089	UBE2T	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	675	BRCA2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2175	FANCA	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2176	FANCC	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2178	FANCE	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2188	FANCF	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2189	FANCG	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	5888	RAD51	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	5889	RAD51C	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55159	RFWD3	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	83990	BRIP1	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	57697	FANCM	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	79728	PALB2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	84464	SLX4	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2072	ERCC4	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55215	FANCI	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	80169	CTC1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	26277	TINF2	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55651	NHP2	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	79650	USB1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55135	WRAP53	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	4869	NPM1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55505	NOP10	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	1736	DKC1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	7298	TYMS	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	4613	MYCN	OMIM:164280
HP:0012252	Abnormal respiratory system morphology	51729	WBP11	OMIM:619227
HP:0012252	Abnormal respiratory system morphology	2260	FGFR1	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	128674	PROKR2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	6658	SOX3	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	9915	ARNT2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	8820	HESX1	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	5015	OTX2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	2201	FBN2	ORPHA:115
HP:0012252	Abnormal respiratory system morphology	1301	COL11A1	OMIM:154780
HP:0012252	Abnormal respiratory system morphology	1513	CTSK	OMIM:265800
HP:0012252	Abnormal respiratory system morphology	4591	TRIM37	OMIM:253250
HP:0012252	Abnormal respiratory system morphology	546	ATRX	OMIM:301040
HP:0012252	Abnormal respiratory system morphology	6424	SFRP4	OMIM:265900
HP:0012252	Abnormal respiratory system morphology	257	ALX3	OMIM:136760
HP:0012252	Abnormal respiratory system morphology	257	ALX3	ORPHA:391474
HP:0012252	Abnormal respiratory system morphology	3766	KCNJ10	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	2299	FOXI1	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	5172	SLC26A4	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	9719	ADAMTSL2	OMIM:231050
HP:0012252	Abnormal respiratory system morphology	11146	GLMN	ORPHA:83454
HP:0012252	Abnormal respiratory system morphology	23321	TRIM2	OMIM:615490
HP:0012252	Abnormal respiratory system morphology	6125	RPL5	OMIM:612561
HP:0012252	Abnormal respiratory system morphology	5428	POLG	OMIM:203700
HP:0012252	Abnormal respiratory system morphology	80232	WDR26	ORPHA:513456
HP:0012252	Abnormal respiratory system morphology	58508	KMT2C	ORPHA:261652
HP:0012252	Abnormal respiratory system morphology	8642	DCHS1	ORPHA:314679
HP:0012252	Abnormal respiratory system morphology	8642	DCHS1	OMIM:601390
HP:0012252	Abnormal respiratory system morphology	29072	SETD2	OMIM:620155
HP:0012252	Abnormal respiratory system morphology	5000	ORC4	OMIM:613800
HP:0012252	Abnormal respiratory system morphology	1291	COL6A1	OMIM:254090
HP:0012252	Abnormal respiratory system morphology	1292	COL6A2	OMIM:254090
HP:0012252	Abnormal respiratory system morphology	1293	COL6A3	OMIM:254090
HP:0012252	Abnormal respiratory system morphology	213	ALB	OMIM:616000
HP:0012252	Abnormal respiratory system morphology	213	ALB	ORPHA:86816
HP:0012252	Abnormal respiratory system morphology	79912	PYROXD1	OMIM:617258
HP:0012252	Abnormal respiratory system morphology	3932	LCK	OMIM:615758
HP:0012252	Abnormal respiratory system morphology	8021	NUP214	OMIM:618426
HP:0012252	Abnormal respiratory system morphology	959	CD40LG	OMIM:308230
HP:0012252	Abnormal respiratory system morphology	79759	ZNF668	OMIM:620194
HP:0012252	Abnormal respiratory system morphology	11151	CORO1A	OMIM:615401
HP:0012252	Abnormal respiratory system morphology	8547	FCN3	OMIM:613860
HP:0012252	Abnormal respiratory system morphology	10525	HYOU1	OMIM:233600
HP:0012252	Abnormal respiratory system morphology	4780	NFE2L2	OMIM:617744
HP:0012252	Abnormal respiratory system morphology	5591	PRKDC	OMIM:615966
HP:0012252	Abnormal respiratory system morphology	91869	RFT1	OMIM:612015
HP:0012252	Abnormal respiratory system morphology	8292	COLQ	ORPHA:98915
HP:0012252	Abnormal respiratory system morphology	3913	LAMB2	ORPHA:98915
HP:0012252	Abnormal respiratory system morphology	57609	DIP2B	OMIM:136630
HP:0012252	Abnormal respiratory system morphology	4718	NDUFC2	OMIM:619170
HP:0012252	Abnormal respiratory system morphology	3978	LIG1	OMIM:619774
HP:0012252	Abnormal respiratory system morphology	2530	FUT8	OMIM:618005
HP:0012252	Abnormal respiratory system morphology	50628	GEMIN4	OMIM:617913
HP:0012252	Abnormal respiratory system morphology	92344	GORAB	OMIM:231070
HP:0012252	Abnormal respiratory system morphology	1604	CD55	OMIM:226300
HP:0012252	Abnormal respiratory system morphology	7407	VARS1	OMIM:617802
HP:0012252	Abnormal respiratory system morphology	6304	SATB1	OMIM:619229
HP:0012252	Abnormal respiratory system morphology	222663	SCUBE3	OMIM:619184
HP:0012252	Abnormal respiratory system morphology	6448	SGSH	OMIM:252900
HP:0012252	Abnormal respiratory system morphology	3953	LEPR	OMIM:614963
HP:0012252	Abnormal respiratory system morphology	3953	LEPR	ORPHA:179494
HP:0012252	Abnormal respiratory system morphology	920	CD4	OMIM:619238
HP:0012252	Abnormal respiratory system morphology	3570	IL6R	OMIM:618944
HP:0012252	Abnormal respiratory system morphology	2799	GNS	OMIM:252940
HP:0012252	Abnormal respiratory system morphology	23247	KATNIP	OMIM:616784
HP:0012252	Abnormal respiratory system morphology	138050	HGSNAT	OMIM:252930
HP:0012252	Abnormal respiratory system morphology	2542	SLC37A4	OMIM:232240
HP:0012252	Abnormal respiratory system morphology	7388	UQCRH	OMIM:620137
HP:0012252	Abnormal respiratory system morphology	5696	PSMB8	OMIM:256040
HP:0012252	Abnormal respiratory system morphology	4669	NAGLU	OMIM:252920
HP:0012252	Abnormal respiratory system morphology	54808	DYM	ORPHA:239
HP:0012252	Abnormal respiratory system morphology	3588	IL10RB	OMIM:612567
HP:0012252	Abnormal respiratory system morphology	6901	TAFAZZIN	OMIM:302060
HP:0012252	Abnormal respiratory system morphology	4286	MITF	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	7299	TYR	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	6591	SNAI2	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	1910	EDNRB	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	4254	KITLG	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	6663	SOX10	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	4000	LMNA	ORPHA:363618
HP:0012252	Abnormal respiratory system morphology	4000	LMNA	ORPHA:79474
HP:0012252	Abnormal respiratory system morphology	145173	B3GLCT	ORPHA:709
HP:0012252	Abnormal respiratory system morphology	5080	PAX6	ORPHA:1065
HP:0012252	Abnormal respiratory system morphology	3708	ITPR1	ORPHA:1065
HP:0012252	Abnormal respiratory system morphology	55109	AGGF1	ORPHA:90308
HP:0012252	Abnormal respiratory system morphology	673	BRAF	ORPHA:500
HP:0012252	Abnormal respiratory system morphology	9968	MED12	OMIM:301068
HP:0012252	Abnormal respiratory system morphology	2006	ELN	OMIM:185500
HP:0012252	Abnormal respiratory system morphology	2294	FOXF1	OMIM:265380
HP:0012252	Abnormal respiratory system morphology	137814	NKX2-6	ORPHA:3384
HP:0012252	Abnormal respiratory system morphology	23129	PLXND1	ORPHA:3384
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	OMIM:300998
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	ORPHA:459070
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	ORPHA:435938
HP:0012252	Abnormal respiratory system morphology	81031	SLC2A10	OMIM:208050
HP:0012252	Abnormal respiratory system morphology	81031	SLC2A10	ORPHA:3342
HP:0012252	Abnormal respiratory system morphology	8260	NAA10	OMIM:300855
HP:0012252	Abnormal respiratory system morphology	8260	NAA10	ORPHA:276432
HP:0012252	Abnormal respiratory system morphology	1272	CNTN1	OMIM:612540
HP:0012252	Abnormal respiratory system morphology	10082	GPC6	OMIM:258315
HP:0012252	Abnormal respiratory system morphology	9487	PIGL	OMIM:280000
HP:0012252	Abnormal respiratory system morphology	64919	BCL11B	OMIM:617237
HP:0012252	Abnormal respiratory system morphology	57514	ARHGAP31	OMIM:100300
HP:0012252	Abnormal respiratory system morphology	2627	GATA6	ORPHA:2255
HP:0012252	Abnormal respiratory system morphology	2627	GATA6	OMIM:600001
HP:0012252	Abnormal respiratory system morphology	22800	RRAS2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	867	CBL	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	8216	LZTR1	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6016	RIT1	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6237	RRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	5894	RAF1	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	22808	MRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	3845	KRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	200734	SPRED2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	4893	NRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6654	SOS1	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6655	SOS2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	5781	PTPN11	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	5922	RASA2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	7486	WRN	ORPHA:902
HP:0012252	Abnormal respiratory system morphology	54361	WNT4	OMIM:611812
HP:0012252	Abnormal respiratory system morphology	9839	ZEB2	OMIM:235730
HP:0012252	Abnormal respiratory system morphology	415	ARSL	ORPHA:79345
HP:0012252	Abnormal respiratory system morphology	1186	CLCN7	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	29887	SNX10	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	8600	TNFSF11	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	2626	GATA4	ORPHA:251071
HP:0012252	Abnormal respiratory system morphology	5422	POLA1	OMIM:301030
HP:0012252	Abnormal respiratory system morphology	2623	GATA1	OMIM:190685
HP:0012252	Abnormal respiratory system morphology	4256	MGP	ORPHA:85202
HP:0012252	Abnormal respiratory system morphology	92002	CCNQ	ORPHA:140952
HP:0012252	Abnormal respiratory system morphology	1482	NKX2-5	OMIM:614432
HP:0012252	Abnormal respiratory system morphology	388015	RTL1	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	8788	DLK1	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	55384	MEG3	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	6628	SNRPB	OMIM:117650
HP:0012252	Abnormal respiratory system morphology	26146	TRAF3IP1	OMIM:616629
HP:0012252	Abnormal respiratory system morphology	9509	ADAMTS2	OMIM:225410
HP:0012252	Abnormal respiratory system morphology	57731	SPTBN4	OMIM:617519
HP:0012252	Abnormal respiratory system morphology	2137	EXTL3	ORPHA:508533
HP:0012252	Abnormal respiratory system morphology	4089	SMAD4	OMIM:139210
HP:0012252	Abnormal respiratory system morphology	171019	ADAMTS19	OMIM:620067
HP:0012252	Abnormal respiratory system morphology	5337	PLD1	OMIM:212093
HP:0012252	Abnormal respiratory system morphology	78987	CRELD1	OMIM:606217
HP:0012252	Abnormal respiratory system morphology	84231	TRAF7	OMIM:618164
HP:0012252	Abnormal respiratory system morphology	2324	FLT4	OMIM:618780
HP:0012252	Abnormal respiratory system morphology	8772	FADD	OMIM:613759
HP:0012252	Abnormal respiratory system morphology	8772	FADD	ORPHA:306550
HP:0012252	Abnormal respiratory system morphology	55593	OTUD5	OMIM:301056
HP:0012252	Abnormal respiratory system morphology	1857	DVL3	OMIM:616894
HP:0012252	Abnormal respiratory system morphology	168507	PKD1L1	OMIM:617205
HP:0012252	Abnormal respiratory system morphology	118924	FRA10AC1	OMIM:620113
HP:0012252	Abnormal respiratory system morphology	3516	RBPJ	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	4851	NOTCH1	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	57572	DOCK6	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	285203	EOGT	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	54567	DLL4	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	633	BGN	OMIM:300989
HP:0012252	Abnormal respiratory system morphology	55181	SMG8	OMIM:619268
HP:0012252	Abnormal respiratory system morphology	182	JAG1	OMIM:617992
HP:0012252	Abnormal respiratory system morphology	182	JAG1	OMIM:118450
HP:0012252	Abnormal respiratory system morphology	84720	PIGO	OMIM:614749
HP:0012252	Abnormal respiratory system morphology	112752	IFT43	OMIM:614099
HP:0012252	Abnormal respiratory system morphology	9652	SKIC3	ORPHA:84064
HP:0012252	Abnormal respiratory system morphology	6499	SKIC2	ORPHA:84064
HP:0012252	Abnormal respiratory system morphology	5500	PPP1CB	OMIM:617506
HP:0012252	Abnormal respiratory system morphology	4625	MYH7	OMIM:613426
HP:0012252	Abnormal respiratory system morphology	6210	RPS15A	OMIM:618313
HP:0012252	Abnormal respiratory system morphology	123606	NIPA1	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	7283	TUBG1	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	81614	NIPA2	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	998	CDC42	ORPHA:487796
HP:0012252	Abnormal respiratory system morphology	93	ACVR2B	OMIM:613751
HP:0012252	Abnormal respiratory system morphology	220136	CFAP53	OMIM:614779
HP:0012252	Abnormal respiratory system morphology	118856	MMP21	OMIM:616749
HP:0012252	Abnormal respiratory system morphology	10491	CRTAP	OMIM:610682
HP:0012252	Abnormal respiratory system morphology	2657	GDF1	OMIM:613854
HP:0012252	Abnormal respiratory system morphology	340419	RSPO2	OMIM:618021
HP:0012252	Abnormal respiratory system morphology	2263	FGFR2	ORPHA:2363
HP:0012252	Abnormal respiratory system morphology	2255	FGF10	ORPHA:2363
HP:0012252	Abnormal respiratory system morphology	51135	IRAK4	ORPHA:70592
HP:0012252	Abnormal respiratory system morphology	25981	DNAH1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	115948	ODAD3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54768	HYDIN	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	352909	DNAAF3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	27148	STK36	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	51314	NME8	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	92749	DRC1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54970	TTC12	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	152110	NEK10	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	8481	OFD1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	2302	FOXJ1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	221421	RSPH9	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	85478	CCDC65	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55036	CCDC40	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	51364	ZMYND10	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	64446	DNAI2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	6674	SPAG1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83544	DNAL1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	89765	RSPH1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83538	ODAD4	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	200373	CFAP221	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	374407	DNAJB13	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55172	DNAAF2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	161582	DNAAF4	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	2622	GAS8	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	23639	DNAAF11	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	27019	DNAI1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	345895	RSPH4A	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54919	DNAAF5	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	6103	RPGR	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	388389	CCDC103	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	93233	ODAD1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55130	ODAD2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	1767	DNAH5	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83861	RSPH3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	345643	MCIDAS	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	56683	CFAP298	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	79925	SPEF2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	10309	CCNO	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	115399	LRRC56	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	139212	DNAAF6	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	123872	DNAAF1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	85016	CFAP300	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	339829	CCDC39	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	8701	DNAH11	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	1770	DNAH9	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	246176	GAS2L2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	10312	TCIRG1	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	1991	ELANE	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	2672	GFI1	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	6729	SRP54	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	81570	CLPB	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	23495	TNFRSF13B	OMIM:609529
HP:0012252	Abnormal respiratory system morphology	1080	CFTR	ORPHA:498359
HP:0012252	Abnormal respiratory system morphology	81704	DOCK8	OMIM:243700
HP:0012252	Abnormal respiratory system morphology	6774	STAT3	OMIM:147060
HP:0012252	Abnormal respiratory system morphology	7037	TFRC	OMIM:616740
HP:0012252	Abnormal respiratory system morphology	60468	BACH2	OMIM:618394
HP:0012252	Abnormal respiratory system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012252	Abnormal respiratory system morphology	4790	NFKB1	OMIM:616576
HP:0012252	Abnormal respiratory system morphology	841	CASP8	OMIM:607271
HP:0012252	Abnormal respiratory system morphology	5336	PLCG2	OMIM:614878
HP:0012252	Abnormal respiratory system morphology	5336	PLCG2	OMIM:614468
HP:0012252	Abnormal respiratory system morphology	5293	PIK3CD	OMIM:615513
HP:0012252	Abnormal respiratory system morphology	56259	CTNNBL1	OMIM:619846
HP:0012252	Abnormal respiratory system morphology	5294	PIK3CG	OMIM:619802
HP:0012252	Abnormal respiratory system morphology	4683	NBN	ORPHA:647
HP:0012252	Abnormal respiratory system morphology	10736	SIX2	ORPHA:488437
HP:0012252	Abnormal respiratory system morphology	5573	PRKAR1A	ORPHA:280651
HP:0012252	Abnormal respiratory system morphology	5144	PDE4D	ORPHA:280651
HP:0012252	Abnormal respiratory system morphology	3759	KCNJ2	OMIM:170390
HP:0012252	Abnormal respiratory system morphology	9526	MPDU1	ORPHA:79323
HP:0012252	Abnormal respiratory system morphology	3852	KRT5	ORPHA:79396
HP:0012252	Abnormal respiratory system morphology	3861	KRT14	ORPHA:79396
HP:0012252	Abnormal respiratory system morphology	2314	FLII	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	23096	IQSEC2	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	10743	RAI1	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	10743	RAI1	OMIM:182290
HP:0012252	Abnormal respiratory system morphology	10522	DEAF1	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	64220	STRA6	OMIM:601186
HP:0012252	Abnormal respiratory system morphology	26123	TCTN3	ORPHA:2753
HP:0012252	Abnormal respiratory system morphology	8565	YARS1	OMIM:619418
HP:0012252	Abnormal respiratory system morphology	139285	AMER1	OMIM:300373
HP:0012252	Abnormal respiratory system morphology	4519	MT-CYB	ORPHA:137675
HP:0012252	Abnormal respiratory system morphology	23498	HAAO	OMIM:617660
HP:0012252	Abnormal respiratory system morphology	7428	VHL	OMIM:193300
HP:0012252	Abnormal respiratory system morphology	2972	BRF1	OMIM:616202
HP:0012252	Abnormal respiratory system morphology	2972	BRF1	ORPHA:444072
HP:0012252	Abnormal respiratory system morphology	427	ASAH1	ORPHA:333
HP:0012252	Abnormal respiratory system morphology	5354	PLP1	ORPHA:280210
HP:0012252	Abnormal respiratory system morphology	686	BTD	ORPHA:79241
HP:0012252	Abnormal respiratory system morphology	89910	UBE3B	OMIM:244450
HP:0012252	Abnormal respiratory system morphology	6872	TAF1	ORPHA:53351
HP:0012252	Abnormal respiratory system morphology	5071	PRKN	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	3659	IRF1	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	5002	SLC22A18	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	5290	PIK3CA	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	1548	CYP2A6	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	2064	ERBB2	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	5519	PPP2R1B	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	1326	MAP3K8	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	25	ABL1	OMIM:617602
HP:0012252	Abnormal respiratory system morphology	6777	STAT5B	OMIM:245590
HP:0012252	Abnormal respiratory system morphology	2193	FARSA	OMIM:619013
HP:0012252	Abnormal respiratory system morphology	6813	STXBP2	OMIM:613101
HP:0012252	Abnormal respiratory system morphology	3763	KCNJ6	ORPHA:435628
HP:0012252	Abnormal respiratory system morphology	3763	KCNJ6	OMIM:614098
HP:0012252	Abnormal respiratory system morphology	5351	PLOD1	OMIM:225400
HP:0012252	Abnormal respiratory system morphology	5351	PLOD1	ORPHA:1900
HP:0012252	Abnormal respiratory system morphology	6477	SIAH1	OMIM:619314
HP:0012252	Abnormal respiratory system morphology	11133	KPTN	OMIM:615637
HP:0012252	Abnormal respiratory system morphology	11133	KPTN	ORPHA:397612
HP:0012252	Abnormal respiratory system morphology	81857	MED25	OMIM:616449
HP:0012252	Abnormal respiratory system morphology	81857	MED25	ORPHA:464738
HP:0012252	Abnormal respiratory system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0012252	Abnormal respiratory system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0012252	Abnormal respiratory system morphology	1302	COL11A2	OMIM:215150
HP:0012252	Abnormal respiratory system morphology	4522	MTHFD1	OMIM:617780
HP:0012252	Abnormal respiratory system morphology	939	CD27	OMIM:615122
HP:0012252	Abnormal respiratory system morphology	10157	AASS	ORPHA:2203
HP:0012252	Abnormal respiratory system morphology	3417	IDH1	ORPHA:99646
HP:0012252	Abnormal respiratory system morphology	6904	TBCD	ORPHA:496641
HP:0012252	Abnormal respiratory system morphology	4001	LMNB1	OMIM:619179
HP:0012252	Abnormal respiratory system morphology	7084	TK2	ORPHA:254875
HP:0012252	Abnormal respiratory system morphology	3952	LEP	OMIM:614962
HP:0012252	Abnormal respiratory system morphology	8792	TNFRSF11A	OMIM:612301
HP:0012252	Abnormal respiratory system morphology	10095	ARPC1B	OMIM:617718
HP:0012252	Abnormal respiratory system morphology	7840	ALMS1	OMIM:203800
HP:0012252	Abnormal respiratory system morphology	7840	ALMS1	ORPHA:64
HP:0012252	Abnormal respiratory system morphology	54681	P4HTM	OMIM:618493
HP:0012252	Abnormal respiratory system morphology	23594	ORC6	OMIM:613803
HP:0012252	Abnormal respiratory system morphology	2074	ERCC6	OMIM:214150
HP:0012252	Abnormal respiratory system morphology	2328	FMO3	OMIM:602079
HP:0012252	Abnormal respiratory system morphology	2588	GALNS	OMIM:253000
HP:0012252	Abnormal respiratory system morphology	718	C3	OMIM:613779
HP:0012252	Abnormal respiratory system morphology	5971	RELB	OMIM:617585
HP:0012252	Abnormal respiratory system morphology	51341	ZBTB7A	OMIM:619769
HP:0012252	Abnormal respiratory system morphology	5317	PKP1	ORPHA:158668
HP:0012252	Abnormal respiratory system morphology	54941	RNF125	OMIM:616260
HP:0012252	Abnormal respiratory system morphology	3423	IDS	OMIM:309900
HP:0012252	Abnormal respiratory system morphology	5879	RAC1	OMIM:617751
HP:0012252	Abnormal respiratory system morphology	5879	RAC1	ORPHA:500159
HP:0012252	Abnormal respiratory system morphology	6603	SMARCD2	OMIM:617475
HP:0012252	Abnormal respiratory system morphology	10747	MASP2	OMIM:613791
HP:0012252	Abnormal respiratory system morphology	721	C4B	OMIM:614379
HP:0012252	Abnormal respiratory system morphology	284119	CAVIN1	OMIM:613327
HP:0012252	Abnormal respiratory system morphology	871	SERPINH1	OMIM:613848
HP:0012252	Abnormal respiratory system morphology	5813	PURA	ORPHA:314655
HP:0012252	Abnormal respiratory system morphology	28956	LAMTOR2	OMIM:610798
HP:0012252	Abnormal respiratory system morphology	28956	LAMTOR2	ORPHA:90023
HP:0012252	Abnormal respiratory system morphology	404672	GTF2H5	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	833	CARS1	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2068	ERCC2	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	7737	RNF113A	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	136647	MPLKIP	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	6897	TARS1	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2071	ERCC3	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2961	GTF2E2	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	9993	DGCR2	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	8220	ESS2	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	8214	DGCR6	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	54487	DGCR8	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	55112	DYNC2I1	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	26160	IFT172	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	153241	CEP120	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	57560	IFT80	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	51626	DYNC2LI1	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	51626	DYNC2LI1	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	79659	DYNC2H1	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	9742	IFT140	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	57728	WDR19	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	89891	DYNC2I2	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	79809	TTC21B	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	64840	PORCN	ORPHA:2092
HP:0012252	Abnormal respiratory system morphology	59341	TRPV4	ORPHA:2635
HP:0012252	Abnormal respiratory system morphology	2261	FGFR3	ORPHA:1860
HP:0012252	Abnormal respiratory system morphology	2261	FGFR3	ORPHA:93274
HP:0012252	Abnormal respiratory system morphology	2317	FLNB	ORPHA:1263
HP:0012252	Abnormal respiratory system morphology	1836	SLC26A2	ORPHA:93298
HP:0012252	Abnormal respiratory system morphology	9321	TRIP11	ORPHA:93299
HP:0012252	Abnormal respiratory system morphology	1131	CHRM3	ORPHA:2970
HP:0012252	Abnormal respiratory system morphology	7473	WNT3	ORPHA:3301
HP:0012252	Abnormal respiratory system morphology	3239	HOXD13	ORPHA:887
HP:0012252	Abnormal respiratory system morphology	5566	PRKACA	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	5567	PRKACB	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	2735	GLI1	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	2121	EVC	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	132884	EVC2	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	7490	WT1	ORPHA:3097
HP:0012252	Abnormal respiratory system morphology	10815	CPLX1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	54872	PIGG	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	7469	NELFA	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	1487	CTBP1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	3954	LETM1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	7468	NSD2	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	126792	B3GALT6	ORPHA:2725
HP:0012252	Abnormal respiratory system morphology	23347	SMCHD1	OMIM:603457
HP:0012252	Abnormal respiratory system morphology	22858	CILK1	OMIM:612651
HP:0012252	Abnormal respiratory system morphology	27152	INTU	OMIM:617925
HP:0012252	Abnormal respiratory system morphology	5396	PRRX1	OMIM:202650
HP:0012252	Abnormal respiratory system morphology	10262	SF3B4	OMIM:154400
HP:0012252	Abnormal respiratory system morphology	6650	CAPN15	OMIM:619318
HP:0012252	Abnormal respiratory system morphology	1906	EDN1	OMIM:615706
HP:0012252	Abnormal respiratory system morphology	55294	FBXW7	OMIM:620012
HP:0012252	Abnormal respiratory system morphology	55023	PHIP	OMIM:617991
HP:0012252	Abnormal respiratory system morphology	6711	SPTBN1	OMIM:619475
HP:0012252	Abnormal respiratory system morphology	26005	C2CD3	OMIM:615948
HP:0012252	Abnormal respiratory system morphology	26005	C2CD3	ORPHA:434179
HP:0012252	Abnormal respiratory system morphology	9775	EIF4A3	OMIM:268305
HP:0012252	Abnormal respiratory system morphology	23065	EMC1	OMIM:616875
HP:0012252	Abnormal respiratory system morphology	23065	EMC1	ORPHA:480898
HP:0012252	Abnormal respiratory system morphology	3835	KIF22	ORPHA:93360
HP:0012252	Abnormal respiratory system morphology	3098	HK1	OMIM:618547
HP:0012252	Abnormal respiratory system morphology	8295	TRRAP	OMIM:618454
HP:0012252	Abnormal respiratory system morphology	4796	TONSL	OMIM:271510
HP:0012252	Abnormal respiratory system morphology	29967	LRP12	OMIM:164310
HP:0012252	Abnormal respiratory system morphology	8092	ALX1	ORPHA:306542
HP:0012252	Abnormal respiratory system morphology	199857	ALG14	OMIM:619036
HP:0012252	Abnormal respiratory system morphology	2303	FOXC2	OMIM:153400
HP:0012252	Abnormal respiratory system morphology	5921	RASA1	ORPHA:137667
HP:0012252	Abnormal respiratory system morphology	5604	MAP2K1	OMIM:163950
HP:0012252	Abnormal respiratory system morphology	2304	FOXE1	OMIM:241850
HP:0012252	Abnormal respiratory system morphology	1718	DHCR24	ORPHA:35107
HP:0012252	Abnormal respiratory system morphology	6910	TBX5	ORPHA:392
HP:0012252	Abnormal respiratory system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	3955	LFNG	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	84667	HES7	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	8243	SMC1A	OMIM:301044
HP:0012252	Abnormal respiratory system morphology	54916	TMEM260	OMIM:617478
HP:0012252	Abnormal respiratory system morphology	100128908	CIROP	OMIM:619702
HP:0012252	Abnormal respiratory system morphology	4838	NODAL	OMIM:270100
HP:0012252	Abnormal respiratory system morphology	54499	TMCO1	OMIM:213980
HP:0012252	Abnormal respiratory system morphology	51816	ADA2	OMIM:615688
HP:0012252	Abnormal respiratory system morphology	10625	IVNS1ABP	OMIM:618969
HP:0012252	Abnormal respiratory system morphology	4194	MDM4	OMIM:618849
HP:0012252	Abnormal respiratory system morphology	146845	CFAP52	OMIM:619607
HP:0012252	Abnormal respiratory system morphology	25790	CFAP45	OMIM:619608
HP:0012252	Abnormal respiratory system morphology	2161	F12	OMIM:610618
HP:0012252	Abnormal respiratory system morphology	1147	CHUK	OMIM:613630
HP:0012252	Abnormal respiratory system morphology	56160	NSMCE3	OMIM:617241
HP:0012252	Abnormal respiratory system morphology	1503	CTPS1	OMIM:615897
HP:0012252	Abnormal respiratory system morphology	5194	PEX13	OMIM:614885
HP:0012252	Abnormal respiratory system morphology	2934	GSN	ORPHA:85448
HP:0012252	Abnormal respiratory system morphology	1896	EDA	OMIM:313500
HP:0012252	Abnormal respiratory system morphology	9990	SLC12A6	OMIM:218000
HP:0012252	Abnormal respiratory system morphology	4758	NEU1	ORPHA:93400
HP:0012252	Abnormal respiratory system morphology	4868	NPHS1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23607	CD2AP	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	9688	NUP93	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	4643	MYO1E	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	64423	INF2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	26130	GAPVD1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	51479	ANKFY1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	54443	ANLN	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	5800	PTPRO	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	286204	CRB2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23165	NUP205	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	2013	EMP2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79023	NUP37	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	51196	PLCE1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79902	NUP85	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	1285	COL4A3	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	396	ARHGDIA	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79934	COQ8B	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23279	NUP160	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	9863	MAGI2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	7225	TRPC6	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	8542	APOL1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	54885	TBC1D8B	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	7827	NPHS2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	83478	ARHGAP24	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23500	DAAM2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	5076	PAX2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	55746	NUP133	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	65055	REEP1	OMIM:620011
HP:0012252	Abnormal respiratory system morphology	5373	PMM2	ORPHA:79318
HP:0012252	Abnormal respiratory system morphology	9342	SNAP29	OMIM:609528
HP:0012252	Abnormal respiratory system morphology	55791	LRIF1	OMIM:619477
HP:0012252	Abnormal respiratory system morphology	54809	SAMD9	OMIM:617053
HP:0012252	Abnormal respiratory system morphology	55037	PTCD3	OMIM:619057
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	10735	STAG2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	10735	STAG2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6597	SMARCA4	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6598	SMARCB1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	8289	ARID1A	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	5977	DPF2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6601	SMARCC2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6602	SMARCD1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	196528	ARID2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6605	SMARCE1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6664	SOX11	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	133686	NADK2	ORPHA:431361
HP:0012252	Abnormal respiratory system morphology	8398	PLA2G6	ORPHA:35069
HP:0012252	Abnormal respiratory system morphology	5048	PAFAH1B1	ORPHA:95232
HP:0012252	Abnormal respiratory system morphology	526	ATP6V1B2	ORPHA:79500
HP:0012252	Abnormal respiratory system morphology	57465	TBC1D24	ORPHA:79500
HP:0012252	Abnormal respiratory system morphology	7314	UBB	ORPHA:99772
HP:0012252	Abnormal respiratory system morphology	57822	GRHL3	ORPHA:99772
HP:0012252	Abnormal respiratory system morphology	1678	TIMM8A	ORPHA:52368
HP:0012252	Abnormal respiratory system morphology	283446	MYO1H	OMIM:619482
HP:0012252	Abnormal respiratory system morphology	80025	PANK2	ORPHA:216866
HP:0012252	Abnormal respiratory system morphology	92935	MARS2	OMIM:616430
HP:0012252	Abnormal respiratory system morphology	6392	SDHD	OMIM:619167
HP:0012252	Abnormal respiratory system morphology	10342	TFG	ORPHA:90117
HP:0012252	Abnormal respiratory system morphology	23007	PLCH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	5277	PIGA	OMIM:301072
HP:0012252	Abnormal respiratory system morphology	2720	GLB1	ORPHA:79255
HP:0012252	Abnormal respiratory system morphology	7512	XPNPEP2	ORPHA:100057
HP:0012252	Abnormal respiratory system morphology	5340	PLG	OMIM:619360
HP:0012252	Abnormal respiratory system morphology	710	SERPING1	ORPHA:100050
HP:0012252	Abnormal respiratory system morphology	710	SERPING1	OMIM:106100
HP:0012252	Abnormal respiratory system morphology	64711	HS3ST6	OMIM:619367
HP:0012252	Abnormal respiratory system morphology	2050	EPHB4	ORPHA:90186
HP:0012252	Abnormal respiratory system morphology	4292	MLH1	OMIM:158320
HP:0012252	Abnormal respiratory system morphology	4292	MLH1	ORPHA:587
HP:0012252	Abnormal respiratory system morphology	4436	MSH2	OMIM:158320
HP:0012252	Abnormal respiratory system morphology	4436	MSH2	ORPHA:587
HP:0012252	Abnormal respiratory system morphology	2956	MSH6	ORPHA:587
HP:0012252	Abnormal respiratory system morphology	284654	RSPO1	OMIM:610644
HP:0012252	Abnormal respiratory system morphology	2131	EXT1	ORPHA:321
HP:0012252	Abnormal respiratory system morphology	2132	EXT2	ORPHA:321
HP:0012252	Abnormal respiratory system morphology	1281	COL3A1	OMIM:130050
HP:0012252	Abnormal respiratory system morphology	5345	SERPINF2	ORPHA:79
HP:0012252	Abnormal respiratory system morphology	5345	SERPINF2	OMIM:262850
HP:0012252	Abnormal respiratory system morphology	2022	ENG	OMIM:187300
HP:0012252	Abnormal respiratory system morphology	1308	COL17A1	ORPHA:79406
HP:0012252	Abnormal respiratory system morphology	4312	MMP1	ORPHA:79408
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79408
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79409
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79410
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79411
HP:0012252	Abnormal respiratory system morphology	158326	FREM1	ORPHA:217266
HP:0012252	Abnormal respiratory system morphology	1288	COL4A6	ORPHA:1018
HP:0012252	Abnormal respiratory system morphology	1287	COL4A5	ORPHA:1018
HP:0012252	Abnormal respiratory system morphology	84071	ARMC2	OMIM:618433
HP:0012252	Abnormal respiratory system morphology	775	CACNA1C	OMIM:601005
HP:0012252	Abnormal respiratory system morphology	165918	RNF168	ORPHA:420741
HP:0012252	Abnormal respiratory system morphology	1438	CSF2RA	OMIM:300770
HP:0012252	Abnormal respiratory system morphology	5371	PML	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	5914	RARA	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	81608	FIP1L1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	64859	NABP1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	4926	NUMA1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	7704	ZBTB16	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	79718	TBL1XR1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	58484	NLRC4	OMIM:616050
HP:0012252	Abnormal respiratory system morphology	846	CASR	OMIM:601198
HP:0012252	Abnormal respiratory system morphology	6329	SCN4A	OMIM:608390
HP:0012252	Abnormal respiratory system morphology	6329	SCN4A	ORPHA:99734
HP:0012252	Abnormal respiratory system morphology	7259	TSPYL1	OMIM:608800
HP:0012252	Abnormal respiratory system morphology	25978	CHMP2B	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	3178	HNRNPA1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	8148	TAF15	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5445	PON2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	9217	VAPB	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	8878	SQSTM1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5630	PRPH	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	29110	TBK1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	55830	GLT8D1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	755	CFAP410	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	10891	PPARGC1A	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	6647	SOD1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	10133	OPTN	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	1639	DCTN1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	9896	FIG4	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5444	PON1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5446	PON3	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	4744	NEFH	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5216	PFN1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	9782	MATR3	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	54209	TREM2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	7415	VCP	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	283	ANG	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	23435	TARDBP	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	29978	UBQLN2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2733	GLE1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2521	FUS	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	4750	NEK1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2043	EPHA4	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	6311	ATXN2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	1610	DAO	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2066	ERBB4	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	311	ANXA11	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	23025	UNC13A	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	899	CCNF	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	400916	CHCHD10	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	27286	SRPX2	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	2903	GRIN2A	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	2566	GABRG2	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	65992	DDRGK1	ORPHA:93352
HP:0012252	Abnormal respiratory system morphology	84133	ZNRF3	ORPHA:1501
HP:0012252	Abnormal respiratory system morphology	1499	CTNNB1	ORPHA:1501
HP:0012252	Abnormal respiratory system morphology	64324	NSD1	ORPHA:821
HP:0012252	Abnormal respiratory system morphology	10297	APC2	ORPHA:821
HP:0012252	Abnormal respiratory system morphology	161742	SPRED1	ORPHA:137605
HP:0012252	Abnormal respiratory system morphology	6439	SFTPB	OMIM:265120
HP:0012252	Abnormal respiratory system morphology	659	BMPR2	OMIM:265450
HP:0012252	Abnormal respiratory system morphology	440275	EIF2AK4	ORPHA:199241
HP:0012252	Abnormal respiratory system morphology	1439	CSF2RB	OMIM:614370
HP:0012252	Abnormal respiratory system morphology	29969	MDFIC	OMIM:620014
HP:0012252	Abnormal respiratory system morphology	10568	SLC34A2	ORPHA:60025
HP:0012252	Abnormal respiratory system morphology	29775	CARD10	OMIM:619632
HP:0012252	Abnormal respiratory system morphology	7015	TERT	OMIM:614742
HP:0012252	Abnormal respiratory system morphology	7015	TERT	OMIM:178500
HP:0012252	Abnormal respiratory system morphology	51750	RTEL1	OMIM:616373
HP:0012252	Abnormal respiratory system morphology	6440	SFTPC	OMIM:178500
HP:0012252	Abnormal respiratory system morphology	727897	MUC5B	OMIM:178500
HP:0012252	Abnormal respiratory system morphology	729238	SFTPA2	OMIM:178500
HP:0012252	Abnormal respiratory system morphology	21	ABCA3	OMIM:610921
HP:0012252	Abnormal respiratory system morphology	653509	SFTPA1	OMIM:619611
HP:0012252	Abnormal respiratory system morphology	5265	SERPINA1	OMIM:613490
HP:0012252	Abnormal respiratory system morphology	22861	NLRP1	OMIM:618803
HP:0012252	Abnormal respiratory system morphology	22861	NLRP1	OMIM:617388
HP:0012252	Abnormal respiratory system morphology	91662	NLRP12	OMIM:611762
HP:0012252	Abnormal respiratory system morphology	57545	CC2D2A	OMIM:612284
HP:0012252	Abnormal respiratory system morphology	60558	GUF1	OMIM:617065
HP:0012252	Abnormal respiratory system morphology	23095	KIF1B	OMIM:256700
HP:0012252	Abnormal respiratory system morphology	1314	COPA	OMIM:616414
HP:0012252	Abnormal respiratory system morphology	9056	SLC7A7	OMIM:222700
HP:0012252	Abnormal respiratory system morphology	10559	SLC35A1	ORPHA:238459
HP:0012252	Abnormal respiratory system morphology	10559	SLC35A1	OMIM:603585
HP:0012252	Abnormal respiratory system morphology	10664	CTCF	ORPHA:363611
HP:0012252	Abnormal respiratory system morphology	57169	ZNFX1	OMIM:619644
HP:0012252	Abnormal respiratory system morphology	89970	RSPRY1	ORPHA:457395
HP:0012252	Abnormal respiratory system morphology	23149	FCHO1	OMIM:619164
HP:0012252	Abnormal respiratory system morphology	1956	EGFR	OMIM:616069
HP:0012252	Abnormal respiratory system morphology	25913	POT1	OMIM:616568
HP:0012252	Abnormal respiratory system morphology	3248	HPGD	ORPHA:2796
HP:0012252	Abnormal respiratory system morphology	6578	SLCO2A1	ORPHA:2796
HP:0012252	Abnormal respiratory system morphology	7373	COL14A1	ORPHA:79501
HP:0012252	Abnormal respiratory system morphology	79719	AAGAB	ORPHA:79501
HP:0012252	Abnormal respiratory system morphology	1029	CDKN2A	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	4193	MDM2	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	11200	CHEK2	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	2130	EWSR1	ORPHA:83469
HP:0012252	Abnormal respiratory system morphology	5925	RB1	OMIM:182280
HP:0012252	Abnormal respiratory system morphology	65998	ZFTA	ORPHA:251636
HP:0012252	Abnormal respiratory system morphology	5970	RELA	ORPHA:251636
HP:0012252	Abnormal respiratory system morphology	6794	STK11	ORPHA:2869
HP:0012252	Abnormal respiratory system morphology	162514	TRPV3	ORPHA:659
HP:0012252	Abnormal respiratory system morphology	64065	PERP	ORPHA:659
HP:0012252	Abnormal respiratory system morphology	5978	REST	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	129563	DIS3L2	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	10155	TRIM28	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	11281	POU6F2	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	283120	H19	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	4665	NAB2	ORPHA:2126
HP:0012252	Abnormal respiratory system morphology	6778	STAT6	ORPHA:2126
HP:0012252	Abnormal respiratory system morphology	23405	DICER1	OMIM:601200
HP:0012252	Abnormal respiratory system morphology	23405	DICER1	OMIM:180295
HP:0012252	Abnormal respiratory system morphology	23405	DICER1	ORPHA:276399
HP:0012252	Abnormal respiratory system morphology	9817	KEAP1	ORPHA:276399
HP:0012252	Abnormal respiratory system morphology	10128	LRPPRC	OMIM:220111
HP:0012252	Abnormal respiratory system morphology	4607	MYBPC3	OMIM:115197
HP:0012252	Abnormal respiratory system morphology	7276	TTR	OMIM:105210
HP:0012252	Abnormal respiratory system morphology	7841	MOGS	ORPHA:79330
HP:0012252	Abnormal respiratory system morphology	847	CAT	ORPHA:926
HP:0012252	Abnormal respiratory system morphology	4486	MST1R	OMIM:617075
HP:0012252	Abnormal respiratory system morphology	1523	CUX1	OMIM:618330
HP:0012252	Abnormal respiratory system morphology	50940	PDE11A	ORPHA:1359
HP:0012252	Abnormal respiratory system morphology	374654	KIF7	ORPHA:2189
HP:0012252	Abnormal respiratory system morphology	54101	RIPK4	ORPHA:1401
HP:0012252	Abnormal respiratory system morphology	3908	LAMA2	ORPHA:258
HP:0012252	Abnormal respiratory system morphology	5077	PAX3	ORPHA:896
HP:0012252	Abnormal respiratory system morphology	4247	MGAT2	ORPHA:79329
HP:0012252	Abnormal respiratory system morphology	64421	DCLRE1C	ORPHA:275
HP:0012252	Abnormal respiratory system morphology	7374	UNG	OMIM:608106
HP:0002040	Esophageal varix	9968	MED12	OMIM:301068
HP:0002040	Esophageal varix	3988	LIPA	ORPHA:75233
HP:0002040	Esophageal varix	3988	LIPA	OMIM:278000
HP:0002040	Esophageal varix	3988	LIPA	ORPHA:75234
HP:0002040	Esophageal varix	2658	GDF2	ORPHA:774
HP:0002040	Esophageal varix	94	ACVRL1	ORPHA:774
HP:0002040	Esophageal varix	4089	SMAD4	ORPHA:774
HP:0002040	Esophageal varix	2022	ENG	ORPHA:774
HP:0002040	Esophageal varix	875	CBS	ORPHA:394
HP:0002040	Esophageal varix	7840	ALMS1	ORPHA:64
HP:0002040	Esophageal varix	811	CALR	ORPHA:131
HP:0002040	Esophageal varix	3717	JAK2	ORPHA:131
HP:0002040	Esophageal varix	2153	F5	ORPHA:131
HP:0002040	Esophageal varix	2629	GBA1	ORPHA:2072
HP:0002040	Esophageal varix	79989	IFT56	OMIM:619534
HP:0002040	Esophageal varix	5314	PKHD1	OMIM:263200
HP:0002040	Esophageal varix	5314	PKHD1	ORPHA:53035
HP:0002040	Esophageal varix	5314	PKHD1	ORPHA:731
HP:0002040	Esophageal varix	55532	SLC30A10	ORPHA:309854
HP:0002040	Esophageal varix	54567	DLL4	OMIM:616589
HP:0002040	Esophageal varix	54567	DLL4	ORPHA:974
HP:0002040	Esophageal varix	2632	GBE1	OMIM:232500
HP:0002040	Esophageal varix	4851	NOTCH1	OMIM:616028
HP:0002040	Esophageal varix	4851	NOTCH1	ORPHA:974
HP:0002040	Esophageal varix	3875	KRT18	OMIM:215600
HP:0002040	Esophageal varix	10056	FARSB	OMIM:613658
HP:0002040	Esophageal varix	91147	TMEM67	OMIM:216360
HP:0002040	Esophageal varix	91147	TMEM67	ORPHA:84081
HP:0002040	Esophageal varix	79991	STN1	OMIM:617341
HP:0002040	Esophageal varix	1716	DGUOK	OMIM:617068
HP:0002040	Esophageal varix	55340	GIMAP5	OMIM:619463
HP:0002040	Esophageal varix	5256	PHKA2	ORPHA:264580
HP:0002040	Esophageal varix	5261	PHKG2	ORPHA:264580
HP:0002040	Esophageal varix	113220	KIF12	OMIM:619662
HP:0002040	Esophageal varix	57511	COG6	OMIM:614576
HP:0002040	Esophageal varix	51816	ADA2	OMIM:615688
HP:0002040	Esophageal varix	51473	DCDC2	ORPHA:84081
HP:0002040	Esophageal varix	2783	GNB2	OMIM:619503
HP:0002040	Esophageal varix	9371	KIF3B	OMIM:618955
HP:0002040	Esophageal varix	540	ATP7B	OMIM:277900
HP:0002040	Esophageal varix	3516	RBPJ	ORPHA:974
HP:0002040	Esophageal varix	57514	ARHGAP31	ORPHA:974
HP:0002040	Esophageal varix	57572	DOCK6	ORPHA:974
HP:0002040	Esophageal varix	285203	EOGT	ORPHA:974
HP:0002040	Esophageal varix	199221	DZIP1L	ORPHA:731
HP:0002041	Intractable diarrhea	9652	SKIC3	ORPHA:84064
HP:0002041	Intractable diarrhea	9652	SKIC3	OMIM:222470
HP:0002041	Intractable diarrhea	6499	SKIC2	ORPHA:84064
HP:0002041	Intractable diarrhea	6850	SYK	OMIM:619381
HP:0002041	Intractable diarrhea	4072	EPCAM	OMIM:613217
HP:0002041	Intractable diarrhea	727	C5	OMIM:609536
HP:0002041	Intractable diarrhea	5339	PLEC	OMIM:226730
HP:0002041	Intractable diarrhea	3691	ITGB4	OMIM:226730
HP:0002041	Intractable diarrhea	6603	SMARCD2	OMIM:617475
HP:0002591	Polyphagia	3064	HTT	ORPHA:399
HP:0002591	Polyphagia	6515	SLC2A3	ORPHA:399
HP:0002591	Polyphagia	7840	ALMS1	ORPHA:64
HP:0002591	Polyphagia	11253	MAN1B1	ORPHA:397941
HP:0002591	Polyphagia	23394	ADNP	ORPHA:404448
HP:0002591	Polyphagia	23394	ADNP	OMIM:615873
HP:0002591	Polyphagia	6492	SIM1	ORPHA:369873
HP:0002591	Polyphagia	6492	SIM1	ORPHA:171829
HP:0002591	Polyphagia	6492	SIM1	ORPHA:398079
HP:0002591	Polyphagia	26580	BSCL2	OMIM:269700
HP:0002591	Polyphagia	4137	MAPT	OMIM:172700
HP:0002591	Polyphagia	4137	MAPT	OMIM:600274
HP:0002591	Polyphagia	5663	PSEN1	OMIM:172700
HP:0002591	Polyphagia	5663	PSEN1	OMIM:600274
HP:0002591	Polyphagia	5122	PCSK1	ORPHA:71528
HP:0002591	Polyphagia	4160	MC4R	ORPHA:71529
HP:0002591	Polyphagia	4160	MC4R	OMIM:618406
HP:0002591	Polyphagia	23040	MYT1L	OMIM:616521
HP:0002591	Polyphagia	23314	SATB2	ORPHA:251028
HP:0002591	Polyphagia	5443	POMC	ORPHA:71526
HP:0002591	Polyphagia	5443	POMC	OMIM:609734
HP:0002591	Polyphagia	55777	MBD5	ORPHA:228402
HP:0002591	Polyphagia	55777	MBD5	OMIM:156200
HP:0002591	Polyphagia	5590	PRKCZ	ORPHA:1606
HP:0002591	Polyphagia	2563	GABRD	ORPHA:1606
HP:0002591	Polyphagia	23013	SPEN	ORPHA:1606
HP:0002591	Polyphagia	8510	MMP23B	ORPHA:1606
HP:0002591	Polyphagia	7798	LUZP1	ORPHA:1606
HP:0002591	Polyphagia	6497	SKI	ORPHA:1606
HP:0002591	Polyphagia	10630	PDPN	ORPHA:1606
HP:0002591	Polyphagia	3339	HSPG2	ORPHA:1606
HP:0002591	Polyphagia	10277	UBE4B	ORPHA:1606
HP:0002591	Polyphagia	8514	KCNAB2	ORPHA:1606
HP:0002591	Polyphagia	473	RERE	ORPHA:1606
HP:0002591	Polyphagia	63976	PRDM16	ORPHA:1606
HP:0002591	Polyphagia	54897	CASZ1	ORPHA:1606
HP:0002591	Polyphagia	4221	MEN1	ORPHA:97279
HP:0002591	Polyphagia	7528	YY1	ORPHA:97279
HP:0002591	Polyphagia	7681	MKRN3	OMIM:176270
HP:0002591	Polyphagia	3653	IPW	OMIM:176270
HP:0002591	Polyphagia	54551	MAGEL2	OMIM:176270
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:98754
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177904
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177901
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:398069
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177910
HP:0002591	Polyphagia	54551	MAGEL2	OMIM:615547
HP:0002591	Polyphagia	791114	PWRN1	OMIM:176270
HP:0002591	Polyphagia	100033413	SNORD116-1	OMIM:176270
HP:0002591	Polyphagia	8924	HERC2	OMIM:176270
HP:0002591	Polyphagia	145624	PWAR1	OMIM:176270
HP:0002591	Polyphagia	23742	NPAP1	OMIM:176270
HP:0002591	Polyphagia	338433	SNORD115-1	OMIM:176270
HP:0002591	Polyphagia	2896	GRN	OMIM:607485
HP:0002591	Polyphagia	25970	SH2B1	ORPHA:329249
HP:0002591	Polyphagia	3952	LEP	ORPHA:66628
HP:0002591	Polyphagia	3952	LEP	OMIM:614962
HP:0002591	Polyphagia	6519	SLC3A1	ORPHA:163690
HP:0002591	Polyphagia	9581	PREPL	ORPHA:163690
HP:0002591	Polyphagia	6833	ABCC8	ORPHA:276575
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:98754
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177904
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177901
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177910
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:411515
HP:0002591	Polyphagia	4692	NDN	ORPHA:98754
HP:0002591	Polyphagia	4692	NDN	ORPHA:177904
HP:0002591	Polyphagia	4692	NDN	ORPHA:177901
HP:0002591	Polyphagia	4692	NDN	ORPHA:177910
HP:0002591	Polyphagia	4948	OCA2	ORPHA:98754
HP:0002591	Polyphagia	4948	OCA2	ORPHA:177904
HP:0002591	Polyphagia	4948	OCA2	ORPHA:177901
HP:0002591	Polyphagia	3767	KCNJ11	ORPHA:276580
HP:0002591	Polyphagia	2146	EZH2	OMIM:277590
HP:0002591	Polyphagia	3953	LEPR	OMIM:614963
HP:0002591	Polyphagia	3953	LEPR	ORPHA:179494
HP:0002591	Polyphagia	80173	IFT74	OMIM:617119
HP:0002591	Polyphagia	2778	GNAS	ORPHA:79443
HP:0002591	Polyphagia	2778	GNAS	ORPHA:79444
HP:0002591	Polyphagia	506	ATP5F1B	OMIM:620085
HP:0002591	Polyphagia	10555	AGPAT2	OMIM:608594
HP:0002591	Polyphagia	6927	HNF1A	ORPHA:324575
HP:0002591	Polyphagia	6927	HNF1A	OMIM:222100
HP:0002591	Polyphagia	26191	PTPN22	OMIM:222100
HP:0002591	Polyphagia	3710	ITPR3	OMIM:222100
HP:0002591	Polyphagia	3569	IL6	OMIM:222100
HP:0002591	Polyphagia	4330	MN1	OMIM:618774
HP:0002591	Polyphagia	83550	GPR101	OMIM:300942
HP:0002591	Polyphagia	29072	SETD2	OMIM:616831
HP:0002591	Polyphagia	109	ADCY3	OMIM:617885
HP:0002591	Polyphagia	4915	NTRK2	OMIM:613886
HP:0002591	Polyphagia	27241	BBS9	OMIM:615986
HP:0002591	Polyphagia	7351	UCP2	ORPHA:276556
HP:0002591	Polyphagia	7337	UBE3A	ORPHA:411515
HP:0002591	Polyphagia	57194	ATP10A	ORPHA:411515
HP:0002591	Polyphagia	6524	SLC5A2	OMIM:233100
HP:0002591	Polyphagia	1499	CTNNB1	ORPHA:54595
HP:0002591	Polyphagia	673	BRAF	ORPHA:54595
HP:0002043	Esophageal stricture	3909	LAMA3	ORPHA:79404
HP:0002043	Esophageal stricture	3918	LAMC2	ORPHA:79404
HP:0002043	Esophageal stricture	3914	LAMB3	ORPHA:79404
HP:0002043	Esophageal stricture	4629	MYH11	OMIM:619350
HP:0002043	Esophageal stricture	1294	COL7A1	ORPHA:79409
HP:0002043	Esophageal stricture	1294	COL7A1	OMIM:226600
HP:0002043	Esophageal stricture	1294	COL7A1	ORPHA:89842
HP:0002043	Esophageal stricture	1294	COL7A1	ORPHA:158673
HP:0002043	Esophageal stricture	3106	HLA-B	ORPHA:36426
HP:0002043	Esophageal stricture	10320	IKZF1	ORPHA:36426
HP:0002043	Esophageal stricture	4312	MMP1	OMIM:226600
HP:0002043	Esophageal stricture	55612	FERMT1	ORPHA:2908
HP:0002043	Esophageal stricture	54809	SAMD9	OMIM:617053
HP:0002043	Esophageal stricture	55651	NHP2	OMIM:224230
HP:0002043	Esophageal stricture	55505	NOP10	OMIM:224230
HP:0002043	Esophageal stricture	79977	GRHL2	OMIM:616029
HP:0002043	Esophageal stricture	10892	MALT1	OMIM:615468
HP:0002043	Esophageal stricture	5238	PGM3	OMIM:615816
HP:0002043	Esophageal stricture	1736	DKC1	OMIM:305000
HP:0002043	Esophageal stricture	64858	DCLRE1B	OMIM:620133
HP:0002043	Esophageal stricture	7015	TERT	OMIM:613989
HP:0002044	Zollinger-Ellison syndrome	4221	MEN1	ORPHA:652
HP:0002044	Zollinger-Ellison syndrome	4221	MEN1	ORPHA:97279
HP:0002044	Zollinger-Ellison syndrome	4221	MEN1	OMIM:131100
HP:0002044	Zollinger-Ellison syndrome	1027	CDKN1B	ORPHA:652
HP:0002044	Zollinger-Ellison syndrome	1027	CDKN1B	ORPHA:276152
HP:0002044	Zollinger-Ellison syndrome	1026	CDKN1A	ORPHA:652
HP:0002044	Zollinger-Ellison syndrome	1030	CDKN2B	ORPHA:652
HP:0002044	Zollinger-Ellison syndrome	1031	CDKN2C	ORPHA:652
HP:0002044	Zollinger-Ellison syndrome	63895	PIEZO2	OMIM:248700
HP:0002044	Zollinger-Ellison syndrome	1616	DAXX	ORPHA:100075
HP:0002044	Zollinger-Ellison syndrome	546	ATRX	ORPHA:100075
HP:0002044	Zollinger-Ellison syndrome	2642	GCGR	ORPHA:438274
HP:0002044	Zollinger-Ellison syndrome	7528	YY1	ORPHA:97279
HP:0002045	Hypothermia	7259	TSPYL1	ORPHA:168593
HP:0002045	Hypothermia	7259	TSPYL1	OMIM:608800
HP:0002045	Hypothermia	3155	HMGCL	ORPHA:20
HP:0002045	Hypothermia	538	ATP7A	ORPHA:198
HP:0002045	Hypothermia	538	ATP7A	OMIM:309400
HP:0002045	Hypothermia	538	ATP7A	ORPHA:565
HP:0002045	Hypothermia	775	CACNA1C	OMIM:601005
HP:0002045	Hypothermia	6335	SCN9A	ORPHA:90026
HP:0002045	Hypothermia	11280	SCN11A	ORPHA:90026
HP:0002045	Hypothermia	6336	SCN10A	ORPHA:90026
HP:0002045	Hypothermia	5626	PROP1	ORPHA:226307
HP:0002045	Hypothermia	89884	LHX4	ORPHA:226307
HP:0002045	Hypothermia	8022	LHX3	ORPHA:226307
HP:0002045	Hypothermia	5449	POU1F1	ORPHA:226307
HP:0002045	Hypothermia	8820	HESX1	ORPHA:226307
HP:0002045	Hypothermia	125988	MICOS13	OMIM:618329
HP:0002045	Hypothermia	388753	COA6	OMIM:616501
HP:0002045	Hypothermia	405753	DUOXA2	ORPHA:95716
HP:0002045	Hypothermia	6528	SLC5A5	ORPHA:95716
HP:0002045	Hypothermia	7038	TG	ORPHA:95716
HP:0002045	Hypothermia	7173	TPO	ORPHA:95716
HP:0002045	Hypothermia	389434	IYD	ORPHA:95716
HP:0002045	Hypothermia	50506	DUOX2	ORPHA:95716
HP:0002045	Hypothermia	50506	DUOX2	ORPHA:226316
HP:0002045	Hypothermia	25974	MMACHC	ORPHA:79282
HP:0002045	Hypothermia	36	ACADSB	OMIM:610006
HP:0002045	Hypothermia	1716	DGUOK	OMIM:251880
HP:0002045	Hypothermia	37	ACADVL	ORPHA:26793
HP:0002045	Hypothermia	8802	SUCLG1	OMIM:245400
HP:0002045	Hypothermia	8802	SUCLG1	ORPHA:17
HP:0002045	Hypothermia	4914	NTRK1	ORPHA:642
HP:0002045	Hypothermia	4535	MT-ND1	ORPHA:255210
HP:0002045	Hypothermia	4536	MT-ND2	ORPHA:255210
HP:0002045	Hypothermia	4537	MT-ND3	ORPHA:255210
HP:0002045	Hypothermia	4538	MT-ND4	ORPHA:255210
HP:0002045	Hypothermia	4567	MT-TL1	ORPHA:255210
HP:0002045	Hypothermia	4578	MT-TW	ORPHA:255210
HP:0002045	Hypothermia	4577	MT-TV	ORPHA:255210
HP:0002045	Hypothermia	4508	MT-ATP6	ORPHA:255210
HP:0002045	Hypothermia	4540	MT-ND5	ORPHA:255210
HP:0002045	Hypothermia	4541	MT-ND6	ORPHA:255210
HP:0002045	Hypothermia	4566	MT-TK	ORPHA:255210
HP:0002045	Hypothermia	7849	PAX8	OMIM:218700
HP:0002045	Hypothermia	7386	UQCRFS1	OMIM:618775
HP:0002045	Hypothermia	54681	P4HTM	OMIM:618493
HP:0002045	Hypothermia	57017	COQ9	OMIM:614654
HP:0002045	Hypothermia	55065	SLC52A1	OMIM:615026
HP:0002045	Hypothermia	221927	BRAT1	OMIM:614498
HP:0002045	Hypothermia	93627	TBCK	ORPHA:488632
HP:0002045	Hypothermia	2555	GABRA2	OMIM:618557
HP:0002045	Hypothermia	4001	LMNB1	ORPHA:99027
HP:0002045	Hypothermia	788	SLC25A20	ORPHA:159
HP:0002045	Hypothermia	56244	BTNL2	ORPHA:797
HP:0002045	Hypothermia	3123	HLA-DRB1	ORPHA:797
HP:0002045	Hypothermia	7253	TSHR	ORPHA:90673
HP:0002045	Hypothermia	7252	TSHB	ORPHA:90674
HP:0002045	Hypothermia	1644	DDC	OMIM:608643
HP:0002045	Hypothermia	1621	DBH	OMIM:223360
HP:0002046	Heat intolerance	7337	UBE3A	ORPHA:98794
HP:0002046	Heat intolerance	7337	UBE3A	ORPHA:98795
HP:0002046	Heat intolerance	7337	UBE3A	ORPHA:411511
HP:0002046	Heat intolerance	4948	OCA2	ORPHA:98794
HP:0002046	Heat intolerance	3939	LDHA	ORPHA:284426
HP:0002046	Heat intolerance	1896	EDA	OMIM:305100
HP:0002046	Heat intolerance	1896	EDA	OMIM:313500
HP:0002046	Heat intolerance	9071	CLDN10	OMIM:617671
HP:0002046	Heat intolerance	51360	MBTPS2	ORPHA:2273
HP:0002046	Heat intolerance	84876	ORAI1	OMIM:612782
HP:0002046	Heat intolerance	81607	NECTIN4	OMIM:613573
HP:0002046	Heat intolerance	5604	MAP2K1	OMIM:615279
HP:0002046	Heat intolerance	85358	SHANK3	OMIM:606232
HP:0002046	Heat intolerance	56983	POGLUT1	ORPHA:79145
HP:0002046	Heat intolerance	3852	KRT5	ORPHA:79145
HP:0002046	Heat intolerance	3852	KRT5	ORPHA:79400
HP:0002046	Heat intolerance	23509	POFUT1	ORPHA:79145
HP:0002046	Heat intolerance	55851	PSENEN	ORPHA:79145
HP:0002046	Heat intolerance	3861	KRT14	ORPHA:79400
HP:0002046	Heat intolerance	3861	KRT14	OMIM:161000
HP:0002046	Heat intolerance	3861	KRT14	ORPHA:69087
HP:0002046	Heat intolerance	3190	HNRNPK	ORPHA:352665
HP:0002046	Heat intolerance	3190	HNRNPK	ORPHA:453504
HP:0002046	Heat intolerance	128178	EDARADD	OMIM:129490
HP:0002046	Heat intolerance	128178	EDARADD	OMIM:224900
HP:0002046	Heat intolerance	10913	EDAR	OMIM:129490
HP:0002046	Heat intolerance	10913	EDAR	OMIM:224900
HP:0002046	Heat intolerance	3709	ITPR2	OMIM:106190
HP:0002046	Heat intolerance	59344	ALOXE3	OMIM:606545
HP:0002046	Heat intolerance	5605	MAP2K2	OMIM:615280
HP:0002046	Heat intolerance	10660	LBX1	OMIM:619483
HP:0002046	Heat intolerance	4792	NFKBIA	OMIM:612132
HP:0002047	Malignant hyperthermia	487	ATP2A1	OMIM:601003
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:597
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:466650
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:169189
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:423
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:424107
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:619542
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:117000
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:145600
HP:0002047	Malignant hyperthermia	779	CACNA1S	OMIM:601887
HP:0002047	Malignant hyperthermia	779	CACNA1S	ORPHA:423
HP:0002047	Malignant hyperthermia	4621	MYH3	ORPHA:2053
HP:0002047	Malignant hyperthermia	4621	MYH3	OMIM:193700
HP:0002047	Malignant hyperthermia	259232	NALCN	ORPHA:2053
HP:0002047	Malignant hyperthermia	8518	ELP1	ORPHA:1764
HP:0002047	Malignant hyperthermia	5236	PGM1	OMIM:614921
HP:0002047	Malignant hyperthermia	3339	HSPG2	OMIM:255800
HP:0002047	Malignant hyperthermia	3339	HSPG2	ORPHA:800
HP:0002047	Malignant hyperthermia	6331	SCN5A	OMIM:272120
HP:0002047	Malignant hyperthermia	246329	STAC3	ORPHA:168572
HP:0002047	Malignant hyperthermia	246329	STAC3	OMIM:255995
HP:0002047	Malignant hyperthermia	274	BIN1	ORPHA:169189
HP:0002047	Malignant hyperthermia	64419	MTMR14	ORPHA:169189
HP:0002047	Malignant hyperthermia	4618	MYF6	ORPHA:169189
HP:0002047	Malignant hyperthermia	1785	DNM2	ORPHA:169189
HP:0002047	Malignant hyperthermia	23529	CLCF1	ORPHA:1545
HP:0002047	Malignant hyperthermia	9244	CRLF1	ORPHA:1545
HP:0002047	Malignant hyperthermia	6329	SCN4A	ORPHA:682
HP:0002047	Malignant hyperthermia	83696	TRAPPC9	ORPHA:352530
HP:0002047	Malignant hyperthermia	1146	CHRNG	OMIM:253290
HP:0002047	Malignant hyperthermia	1144	CHRND	OMIM:253290
HP:0002047	Malignant hyperthermia	1134	CHRNA1	OMIM:253290
HP:0002047	Malignant hyperthermia	26154	ABCA12	ORPHA:457
HP:0002047	Malignant hyperthermia	7189	TRAF6	ORPHA:1810
HP:0002047	Malignant hyperthermia	128178	EDARADD	ORPHA:1810
HP:0002047	Malignant hyperthermia	126695	KDF1	ORPHA:1810
HP:0002047	Malignant hyperthermia	10913	EDAR	ORPHA:1810
HP:0002048	Renal cortical atrophy	4582	MUC1	OMIM:174000
HP:0002049	Proximal renal tubular acidosis	2625	GATA3	OMIM:146255
HP:0002049	Proximal renal tubular acidosis	8671	SLC4A4	OMIM:604278
HP:0002049	Proximal renal tubular acidosis	84300	UQCC2	OMIM:615824
HP:0002049	Proximal renal tubular acidosis	5091	PC	OMIM:266150
HP:0002049	Proximal renal tubular acidosis	229	ALDOB	OMIM:229600
HP:0002049	Proximal renal tubular acidosis	4952	OCRL	ORPHA:534
HP:0002049	Proximal renal tubular acidosis	4952	OCRL	OMIM:309000
HP:0002049	Proximal renal tubular acidosis	760	CA2	ORPHA:2785
HP:0002049	Proximal renal tubular acidosis	1962	EHHADH	ORPHA:3337
HP:0002049	Proximal renal tubular acidosis	2628	GATM	ORPHA:3337
HP:0002049	Proximal renal tubular acidosis	137682	NDUFAF6	ORPHA:3337
HP:0002049	Proximal renal tubular acidosis	6569	SLC34A1	ORPHA:3337
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	374407	DNAJB13	OMIM:617091
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	8382	NME5	OMIM:620032
HP:0012265	Ciliary dyskinesia	27019	DNAI1	OMIM:244400
HP:0012265	Ciliary dyskinesia	92749	DRC1	OMIM:615294
HP:0012265	Ciliary dyskinesia	83861	RSPH3	OMIM:616481
HP:0012265	Ciliary dyskinesia	123872	DNAAF1	OMIM:613193
HP:0012265	Ciliary dyskinesia	55130	ODAD2	OMIM:615451
HP:0012265	Ciliary dyskinesia	10309	CCNO	OMIM:615872
HP:0012265	Ciliary dyskinesia	2622	GAS8	OMIM:616726
HP:0012265	Ciliary dyskinesia	27148	STK36	OMIM:619436
HP:0012265	Ciliary dyskinesia	64446	DNAI2	OMIM:612444
HP:0012265	Ciliary dyskinesia	345895	RSPH4A	OMIM:612649
HP:0012265	Ciliary dyskinesia	54768	HYDIN	OMIM:608647
HP:0012265	Ciliary dyskinesia	89765	RSPH1	OMIM:615481
HP:0012265	Ciliary dyskinesia	161582	DNAAF4	OMIM:615482
HP:0012265	Ciliary dyskinesia	93233	ODAD1	OMIM:615067
HP:0012265	Ciliary dyskinesia	56683	CFAP298	OMIM:615500
HP:0012265	Ciliary dyskinesia	221421	RSPH9	OMIM:612650
HP:0012265	Ciliary dyskinesia	54919	DNAAF5	OMIM:614874
HP:0012265	Ciliary dyskinesia	51364	ZMYND10	OMIM:615444
HP:0012265	Ciliary dyskinesia	115948	ODAD3	OMIM:616037
HP:0012265	Ciliary dyskinesia	85478	CCDC65	OMIM:615504
HP:0012265	Ciliary dyskinesia	388389	CCDC103	OMIM:614679
HP:0012265	Ciliary dyskinesia	8701	DNAH11	OMIM:611884
HP:0012265	Ciliary dyskinesia	6674	SPAG1	OMIM:615505
HP:0012265	Ciliary dyskinesia	83544	DNAL1	OMIM:614017
HP:0012265	Ciliary dyskinesia	51314	NME8	OMIM:610852
HP:0012265	Ciliary dyskinesia	1767	DNAH5	OMIM:608644
HP:0012265	Ciliary dyskinesia	352909	DNAAF3	OMIM:606763
HP:0012265	Ciliary dyskinesia	23639	DNAAF11	OMIM:614935
HP:0012265	Ciliary dyskinesia	85452	CFAP74	OMIM:620197
HP:0012265	Ciliary dyskinesia	55172	DNAAF2	OMIM:612518
HP:0012265	Ciliary dyskinesia	55036	CCDC40	OMIM:613808
HP:0012265	Ciliary dyskinesia	339829	CCDC39	OMIM:613807
HP:0012269	Abnormal muscle glycogen content	2548	GAA	OMIM:232300
HP:0012269	Abnormal muscle glycogen content	5213	PFKM	OMIM:232800
HP:0012269	Abnormal muscle glycogen content	5213	PFKM	ORPHA:371
HP:0012269	Abnormal muscle glycogen content	5257	PHKB	OMIM:261750
HP:0012269	Abnormal muscle glycogen content	4556	MT-TE	ORPHA:254864
HP:0012269	Abnormal muscle glycogen content	55687	TRMU	ORPHA:254864
HP:0012269	Abnormal muscle glycogen content	55154	MSTO1	ORPHA:502423
HP:0012269	Abnormal muscle glycogen content	2027	ENO3	OMIM:612932
HP:0012269	Abnormal muscle glycogen content	5837	PYGM	ORPHA:368
HP:0012269	Abnormal muscle glycogen content	5255	PHKA1	OMIM:300559
HP:0012269	Abnormal muscle glycogen content	2997	GYS1	OMIM:611556
HP:0012269	Abnormal muscle glycogen content	2992	GYG1	ORPHA:263297
HP:0012269	Abnormal muscle glycogen content	5256	PHKA2	ORPHA:264580
HP:0012269	Abnormal muscle glycogen content	5261	PHKG2	ORPHA:264580
HP:0012266	T-wave alternans	6330	SCN4B	OMIM:611819
HP:0012266	T-wave alternans	801	CALM1	OMIM:616247
HP:0012266	T-wave alternans	808	CALM3	OMIM:618782
HP:0012267	Absent respiratory ciliary axoneme radial spokes	83861	RSPH3	OMIM:616481
HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	221421	RSPH9	OMIM:612650
HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	345895	RSPH4A	OMIM:612649
HP:0012261	Abnormal respiratory motile cilium physiology	85016	CFAP300	OMIM:618063
HP:0012261	Abnormal respiratory motile cilium physiology	54970	TTC12	OMIM:618801
HP:0012261	Abnormal respiratory motile cilium physiology	27019	DNAI1	OMIM:244400
HP:0012261	Abnormal respiratory motile cilium physiology	92749	DRC1	OMIM:615294
HP:0012261	Abnormal respiratory motile cilium physiology	83861	RSPH3	OMIM:616481
HP:0012261	Abnormal respiratory motile cilium physiology	123872	DNAAF1	OMIM:613193
HP:0012261	Abnormal respiratory motile cilium physiology	10309	CCNO	OMIM:615872
HP:0012261	Abnormal respiratory motile cilium physiology	2622	GAS8	OMIM:616726
HP:0012261	Abnormal respiratory motile cilium physiology	27148	STK36	OMIM:619436
HP:0012261	Abnormal respiratory motile cilium physiology	64446	DNAI2	OMIM:612444
HP:0012261	Abnormal respiratory motile cilium physiology	345895	RSPH4A	OMIM:612649
HP:0012261	Abnormal respiratory motile cilium physiology	89765	RSPH1	OMIM:615481
HP:0012261	Abnormal respiratory motile cilium physiology	161582	DNAAF4	OMIM:615482
HP:0012261	Abnormal respiratory motile cilium physiology	221421	RSPH9	OMIM:612650
HP:0012261	Abnormal respiratory motile cilium physiology	388389	CCDC103	OMIM:614679
HP:0012261	Abnormal respiratory motile cilium physiology	8701	DNAH11	OMIM:611884
HP:0012261	Abnormal respiratory motile cilium physiology	83544	DNAL1	OMIM:614017
HP:0012261	Abnormal respiratory motile cilium physiology	51314	NME8	OMIM:610852
HP:0012261	Abnormal respiratory motile cilium physiology	1767	DNAH5	OMIM:608644
HP:0012261	Abnormal respiratory motile cilium physiology	352909	DNAAF3	OMIM:606763
HP:0012261	Abnormal respiratory motile cilium physiology	85452	CFAP74	OMIM:620197
HP:0012261	Abnormal respiratory motile cilium physiology	55172	DNAAF2	OMIM:612518
HP:0012261	Abnormal respiratory motile cilium physiology	55036	CCDC40	OMIM:613808
HP:0012261	Abnormal respiratory motile cilium physiology	339829	CCDC39	OMIM:613807
HP:0012261	Abnormal respiratory motile cilium physiology	374407	DNAJB13	OMIM:617091
HP:0012261	Abnormal respiratory motile cilium physiology	1770	DNAH9	OMIM:618300
HP:0012261	Abnormal respiratory motile cilium physiology	56683	CFAP298	OMIM:615500
HP:0012261	Abnormal respiratory motile cilium physiology	54919	DNAAF5	OMIM:614874
HP:0012261	Abnormal respiratory motile cilium physiology	51364	ZMYND10	OMIM:615444
HP:0012261	Abnormal respiratory motile cilium physiology	115948	ODAD3	OMIM:616037
HP:0012261	Abnormal respiratory motile cilium physiology	85478	CCDC65	OMIM:615504
HP:0012261	Abnormal respiratory motile cilium physiology	54768	HYDIN	OMIM:608647
HP:0012261	Abnormal respiratory motile cilium physiology	6674	SPAG1	OMIM:615505
HP:0012261	Abnormal respiratory motile cilium physiology	23639	DNAAF11	OMIM:614935
HP:0012261	Abnormal respiratory motile cilium physiology	93233	ODAD1	OMIM:615067
HP:0012261	Abnormal respiratory motile cilium physiology	55130	ODAD2	OMIM:615451
HP:0012262	Abnormal ciliary motility	85016	CFAP300	OMIM:618063
HP:0012262	Abnormal ciliary motility	54970	TTC12	OMIM:618801
HP:0012262	Abnormal ciliary motility	27019	DNAI1	OMIM:244400
HP:0012262	Abnormal ciliary motility	92749	DRC1	OMIM:615294
HP:0012262	Abnormal ciliary motility	83861	RSPH3	OMIM:616481
HP:0012262	Abnormal ciliary motility	123872	DNAAF1	OMIM:613193
HP:0012262	Abnormal ciliary motility	55130	ODAD2	OMIM:615451
HP:0012262	Abnormal ciliary motility	10309	CCNO	OMIM:615872
HP:0012262	Abnormal ciliary motility	2622	GAS8	OMIM:616726
HP:0012262	Abnormal ciliary motility	27148	STK36	OMIM:619436
HP:0012262	Abnormal ciliary motility	64446	DNAI2	OMIM:612444
HP:0012262	Abnormal ciliary motility	345895	RSPH4A	OMIM:612649
HP:0012262	Abnormal ciliary motility	54768	HYDIN	OMIM:608647
HP:0012262	Abnormal ciliary motility	89765	RSPH1	OMIM:615481
HP:0012262	Abnormal ciliary motility	161582	DNAAF4	OMIM:615482
HP:0012262	Abnormal ciliary motility	93233	ODAD1	OMIM:615067
HP:0012262	Abnormal ciliary motility	56683	CFAP298	OMIM:615500
HP:0012262	Abnormal ciliary motility	221421	RSPH9	OMIM:612650
HP:0012262	Abnormal ciliary motility	54919	DNAAF5	OMIM:614874
HP:0012262	Abnormal ciliary motility	51364	ZMYND10	OMIM:615444
HP:0012262	Abnormal ciliary motility	115948	ODAD3	OMIM:616037
HP:0012262	Abnormal ciliary motility	85478	CCDC65	OMIM:615504
HP:0012262	Abnormal ciliary motility	388389	CCDC103	OMIM:614679
HP:0012262	Abnormal ciliary motility	8701	DNAH11	OMIM:611884
HP:0012262	Abnormal ciliary motility	6674	SPAG1	OMIM:615505
HP:0012262	Abnormal ciliary motility	83544	DNAL1	OMIM:614017
HP:0012262	Abnormal ciliary motility	51314	NME8	OMIM:610852
HP:0012262	Abnormal ciliary motility	1767	DNAH5	OMIM:608644
HP:0012262	Abnormal ciliary motility	352909	DNAAF3	OMIM:606763
HP:0012262	Abnormal ciliary motility	23639	DNAAF11	OMIM:614935
HP:0012262	Abnormal ciliary motility	85452	CFAP74	OMIM:620197
HP:0012262	Abnormal ciliary motility	55172	DNAAF2	OMIM:612518
HP:0012262	Abnormal ciliary motility	55036	CCDC40	OMIM:613808
HP:0012262	Abnormal ciliary motility	339829	CCDC39	OMIM:613807
HP:0012263	Immotile cilia	27019	DNAI1	OMIM:244400
HP:0012263	Immotile cilia	85016	CFAP300	OMIM:618063
HP:0012263	Immotile cilia	89765	RSPH1	OMIM:615481
HP:0012263	Immotile cilia	161582	DNAAF4	OMIM:615482
HP:0012263	Immotile cilia	83861	RSPH3	OMIM:616481
HP:0012263	Immotile cilia	123872	DNAAF1	OMIM:613193
HP:0012263	Immotile cilia	56683	CFAP298	OMIM:615500
HP:0012263	Immotile cilia	54919	DNAAF5	OMIM:614874
HP:0012263	Immotile cilia	51364	ZMYND10	OMIM:615444
HP:0012263	Immotile cilia	54970	TTC12	OMIM:618801
HP:0012263	Immotile cilia	345895	RSPH4A	OMIM:612649
HP:0012263	Immotile cilia	352909	DNAAF3	OMIM:606763
HP:0012263	Immotile cilia	23639	DNAAF11	OMIM:614935
HP:0002050	Macroorchidism, postpubertal	1588	CYP19A1	ORPHA:91
HP:0002050	Macroorchidism, postpubertal	2332	FMR1	OMIM:300624
HP:0000303	Mandibular prognathia	50964	SOST	OMIM:269500
HP:0000303	Mandibular prognathia	50964	SOST	ORPHA:3416
HP:0000303	Mandibular prognathia	50964	SOST	OMIM:122860
HP:0000303	Mandibular prognathia	5573	PRKAR1A	ORPHA:950
HP:0000303	Mandibular prognathia	5573	PRKAR1A	OMIM:101800
HP:0000303	Mandibular prognathia	5573	PRKAR1A	ORPHA:280651
HP:0000303	Mandibular prognathia	5144	PDE4D	ORPHA:950
HP:0000303	Mandibular prognathia	5144	PDE4D	OMIM:614613
HP:0000303	Mandibular prognathia	5144	PDE4D	ORPHA:439822
HP:0000303	Mandibular prognathia	5144	PDE4D	ORPHA:280651
HP:0000303	Mandibular prognathia	199857	ALG14	OMIM:619031
HP:0000303	Mandibular prognathia	8450	CUL4B	OMIM:300354
HP:0000303	Mandibular prognathia	2673	GFPT1	OMIM:608931
HP:0000303	Mandibular prognathia	1145	CHRNE	OMIM:608931
HP:0000303	Mandibular prognathia	6535	SLC6A8	OMIM:300352
HP:0000303	Mandibular prognathia	324	APC	ORPHA:261584
HP:0000303	Mandibular prognathia	8367	H4C5	OMIM:619950
HP:0000303	Mandibular prognathia	51256	TBC1D7	OMIM:248000
HP:0000303	Mandibular prognathia	340533	NEXMIF	OMIM:300912
HP:0000303	Mandibular prognathia	1183	CLCN4	OMIM:300114
HP:0000303	Mandibular prognathia	9853	RUSC2	OMIM:617773
HP:0000303	Mandibular prognathia	2200	FBN1	ORPHA:1885
HP:0000303	Mandibular prognathia	54507	ADAMTSL4	ORPHA:1885
HP:0000303	Mandibular prognathia	23135	KDM6B	OMIM:618505
HP:0000303	Mandibular prognathia	5894	RAF1	OMIM:611554
HP:0000303	Mandibular prognathia	5894	RAF1	OMIM:611553
HP:0000303	Mandibular prognathia	55627	SMPD4	OMIM:618622
HP:0000303	Mandibular prognathia	3703	STT3A	OMIM:619714
HP:0000303	Mandibular prognathia	1788	DNMT3A	ORPHA:404443
HP:0000303	Mandibular prognathia	1161	ERCC8	ORPHA:90321
HP:0000303	Mandibular prognathia	1161	ERCC8	ORPHA:90322
HP:0000303	Mandibular prognathia	1161	ERCC8	OMIM:216400
HP:0000303	Mandibular prognathia	2072	ERCC4	ORPHA:90321
HP:0000303	Mandibular prognathia	2074	ERCC6	ORPHA:90321
HP:0000303	Mandibular prognathia	2074	ERCC6	ORPHA:90322
HP:0000303	Mandibular prognathia	2074	ERCC6	OMIM:133540
HP:0000303	Mandibular prognathia	10084	PQBP1	ORPHA:93950
HP:0000303	Mandibular prognathia	10084	PQBP1	ORPHA:93945
HP:0000303	Mandibular prognathia	10084	PQBP1	OMIM:309500
HP:0000303	Mandibular prognathia	2067	ERCC1	ORPHA:90322
HP:0000303	Mandibular prognathia	9401	RECQL4	OMIM:268400
HP:0000303	Mandibular prognathia	6840	SVIL	OMIM:619040
HP:0000303	Mandibular prognathia	4125	MAN2B1	ORPHA:309282
HP:0000303	Mandibular prognathia	4125	MAN2B1	OMIM:248500
HP:0000303	Mandibular prognathia	4983	OPHN1	OMIM:300486
HP:0000303	Mandibular prognathia	4983	OPHN1	ORPHA:137831
HP:0000303	Mandibular prognathia	10479	SLC9A6	OMIM:300243
HP:0000303	Mandibular prognathia	10479	SLC9A6	ORPHA:85278
HP:0000303	Mandibular prognathia	374654	KIF7	OMIM:200990
HP:0000303	Mandibular prognathia	9578	CDC42BPB	OMIM:619841
HP:0000303	Mandibular prognathia	3020	H3-3A	OMIM:619720
HP:0000303	Mandibular prognathia	3021	H3-3B	OMIM:619721
HP:0000303	Mandibular prognathia	5728	PTEN	ORPHA:2969
HP:0000303	Mandibular prognathia	2314	FLII	ORPHA:819
HP:0000303	Mandibular prognathia	23096	IQSEC2	ORPHA:819
HP:0000303	Mandibular prognathia	10743	RAI1	ORPHA:819
HP:0000303	Mandibular prognathia	10743	RAI1	OMIM:182290
HP:0000303	Mandibular prognathia	10522	DEAF1	ORPHA:819
HP:0000303	Mandibular prognathia	10522	DEAF1	OMIM:615828
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:620157
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:620155
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:616831
HP:0000303	Mandibular prognathia	4626	MYH8	ORPHA:3377
HP:0000303	Mandibular prognathia	55650	PIGV	OMIM:239300
HP:0000303	Mandibular prognathia	55650	PIGV	ORPHA:247262
HP:0000303	Mandibular prognathia	29957	SLC25A24	ORPHA:2963
HP:0000303	Mandibular prognathia	29957	SLC25A24	OMIM:612289
HP:0000303	Mandibular prognathia	284403	WDR62	OMIM:604317
HP:0000303	Mandibular prognathia	6197	RPS6KA3	OMIM:303600
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:87
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:168624
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:101200
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:123500
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:1540
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:101600
HP:0000303	Mandibular prognathia	84992	PIGY	ORPHA:247262
HP:0000303	Mandibular prognathia	84720	PIGO	ORPHA:247262
HP:0000303	Mandibular prognathia	93210	PGAP3	ORPHA:247262
HP:0000303	Mandibular prognathia	284098	PIGW	ORPHA:247262
HP:0000303	Mandibular prognathia	27315	PGAP2	ORPHA:247262
HP:0000303	Mandibular prognathia	9487	PIGL	ORPHA:247262
HP:0000303	Mandibular prognathia	535	ATP6V0A1	OMIM:619971
HP:0000303	Mandibular prognathia	64324	NSD1	OMIM:117550
HP:0000303	Mandibular prognathia	55154	MSTO1	OMIM:617675
HP:0000303	Mandibular prognathia	8913	CACNA1G	OMIM:618087
HP:0000303	Mandibular prognathia	3899	AFF3	OMIM:619297
HP:0000303	Mandibular prognathia	7040	TGFB1	OMIM:131300
HP:0000303	Mandibular prognathia	56172	ANKH	OMIM:123000
HP:0000303	Mandibular prognathia	81857	MED25	ORPHA:464738
HP:0000303	Mandibular prognathia	23184	MESD	OMIM:618644
HP:0000303	Mandibular prognathia	83550	GPR101	ORPHA:963
HP:0000303	Mandibular prognathia	9049	AIP	ORPHA:963
HP:0000303	Mandibular prognathia	9049	AIP	ORPHA:99725
HP:0000303	Mandibular prognathia	2697	GJA1	ORPHA:2710
HP:0000303	Mandibular prognathia	2697	GJA1	OMIM:218400
HP:0000303	Mandibular prognathia	10555	AGPAT2	OMIM:608594
HP:0000303	Mandibular prognathia	10555	AGPAT2	ORPHA:528
HP:0000303	Mandibular prognathia	9839	ZEB2	ORPHA:261552
HP:0000303	Mandibular prognathia	9839	ZEB2	ORPHA:261537
HP:0000303	Mandibular prognathia	1193	CLIC2	ORPHA:324410
HP:0000303	Mandibular prognathia	2720	GLB1	OMIM:253010
HP:0000303	Mandibular prognathia	3340	NDST1	OMIM:616116
HP:0000303	Mandibular prognathia	79813	EHMT1	OMIM:610253
HP:0000303	Mandibular prognathia	1009	CDH11	ORPHA:1299
HP:0000303	Mandibular prognathia	1009	CDH11	OMIM:211380
HP:0000303	Mandibular prognathia	93627	TBCK	ORPHA:488632
HP:0000303	Mandibular prognathia	2783	GNB2	OMIM:619503
HP:0000303	Mandibular prognathia	55623	THUMPD1	OMIM:619989
HP:0000303	Mandibular prognathia	79158	GNPTAB	OMIM:252600
HP:0000303	Mandibular prognathia	175	AGA	ORPHA:93
HP:0000303	Mandibular prognathia	4247	MGAT2	OMIM:212066
HP:0000303	Mandibular prognathia	3425	IDUA	OMIM:607016
HP:0000303	Mandibular prognathia	54345	SOX18	OMIM:137940
HP:0000303	Mandibular prognathia	65109	UPF3B	OMIM:300676
HP:0000303	Mandibular prognathia	1182	CLCN3	OMIM:619512
HP:0000303	Mandibular prognathia	23512	SUZ12	OMIM:618786
HP:0000303	Mandibular prognathia	388662	SLC6A17	ORPHA:457212
HP:0000303	Mandibular prognathia	388662	SLC6A17	OMIM:616269
HP:0000303	Mandibular prognathia	3590	IL11RA	OMIM:614188
HP:0000303	Mandibular prognathia	23126	POGZ	OMIM:616364
HP:0000303	Mandibular prognathia	3572	IL6ST	OMIM:619750
HP:0000303	Mandibular prognathia	55699	IARS2	OMIM:616007
HP:0000303	Mandibular prognathia	2332	FMR1	ORPHA:908
HP:0000303	Mandibular prognathia	2332	FMR1	ORPHA:449291
HP:0000303	Mandibular prognathia	2332	FMR1	OMIM:300624
HP:0000303	Mandibular prognathia	5593	PRKG2	OMIM:619636
HP:0000303	Mandibular prognathia	6134	RPL10	ORPHA:459070
HP:0000303	Mandibular prognathia	6134	RPL10	OMIM:300998
HP:0000303	Mandibular prognathia	6134	RPL10	ORPHA:435938
HP:0000303	Mandibular prognathia	6638	SNRPN	OMIM:105830
HP:0000303	Mandibular prognathia	6638	SNRPN	ORPHA:411515
HP:0000303	Mandibular prognathia	7337	UBE3A	OMIM:105830
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:98794
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:98795
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:411511
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:411515
HP:0000303	Mandibular prognathia	10907	TXNL4A	OMIM:608572
HP:0000303	Mandibular prognathia	55210	ATAD3A	ORPHA:496790
HP:0000303	Mandibular prognathia	55210	ATAD3A	OMIM:617183
HP:0000303	Mandibular prognathia	6558	SLC12A2	OMIM:619080
HP:0000303	Mandibular prognathia	4089	SMAD4	OMIM:139210
HP:0000303	Mandibular prognathia	4089	SMAD4	ORPHA:2588
HP:0000303	Mandibular prognathia	27086	FOXP1	ORPHA:391372
HP:0000303	Mandibular prognathia	56098	PCDHGC4	OMIM:619880
HP:0000303	Mandibular prognathia	4849	CNOT3	OMIM:618672
HP:0000303	Mandibular prognathia	4784	NFIX	OMIM:614753
HP:0000303	Mandibular prognathia	6901	TAFAZZIN	OMIM:302060
HP:0000303	Mandibular prognathia	4221	MEN1	ORPHA:99725
HP:0000303	Mandibular prognathia	388015	RTL1	ORPHA:96334
HP:0000303	Mandibular prognathia	8788	DLK1	ORPHA:96334
HP:0000303	Mandibular prognathia	55384	MEG3	ORPHA:96334
HP:0000303	Mandibular prognathia	55343	SLC35C1	ORPHA:99843
HP:0000303	Mandibular prognathia	3187	HNRNPH1	OMIM:620083
HP:0000303	Mandibular prognathia	5373	PMM2	ORPHA:79318
HP:0000303	Mandibular prognathia	5727	PTCH1	ORPHA:377
HP:0000303	Mandibular prognathia	5727	PTCH1	OMIM:109400
HP:0000303	Mandibular prognathia	8643	PTCH2	ORPHA:377
HP:0000303	Mandibular prognathia	51684	SUFU	ORPHA:377
HP:0000303	Mandibular prognathia	2239	GPC4	ORPHA:373
HP:0000303	Mandibular prognathia	2239	GPC4	OMIM:312870
HP:0000303	Mandibular prognathia	2719	GPC3	ORPHA:373
HP:0000303	Mandibular prognathia	2719	GPC3	OMIM:312870
HP:0000303	Mandibular prognathia	8242	KDM5C	OMIM:300534
HP:0000303	Mandibular prognathia	7355	SLC35A2	OMIM:300896
HP:0000303	Mandibular prognathia	54941	RNF125	OMIM:616260
HP:0000303	Mandibular prognathia	5077	PAX3	OMIM:193500
HP:0000303	Mandibular prognathia	5077	PAX3	OMIM:148820
HP:0000303	Mandibular prognathia	5077	PAX3	ORPHA:894
HP:0000303	Mandibular prognathia	10735	STAG2	ORPHA:521258
HP:0000303	Mandibular prognathia	2260	FGFR1	OMIM:166250
HP:0000303	Mandibular prognathia	2260	FGFR1	OMIM:101600
HP:0000303	Mandibular prognathia	7994	KAT6A	OMIM:616268
HP:0000303	Mandibular prognathia	6611	SMS	OMIM:309583
HP:0000303	Mandibular prognathia	6611	SMS	ORPHA:3063
HP:0000303	Mandibular prognathia	2146	EZH2	OMIM:277590
HP:0000303	Mandibular prognathia	5781	PTPN11	OMIM:151100
HP:0000303	Mandibular prognathia	2702	GJA5	OMIM:612474
HP:0000303	Mandibular prognathia	2703	GJA8	OMIM:612474
HP:0000303	Mandibular prognathia	22907	DHX30	OMIM:617804
HP:0000303	Mandibular prognathia	8905	AP1S2	OMIM:304340
HP:0000303	Mandibular prognathia	8600	TNFSF11	OMIM:259710
HP:0000303	Mandibular prognathia	22827	PUF60	ORPHA:508498
HP:0000303	Mandibular prognathia	57190	SELENON	ORPHA:324604
HP:0000303	Mandibular prognathia	4625	MYH7	ORPHA:324604
HP:0000303	Mandibular prognathia	7273	TTN	ORPHA:324604
HP:0000303	Mandibular prognathia	8925	HERC1	OMIM:617011
HP:0000303	Mandibular prognathia	8925	HERC1	ORPHA:457359
HP:0000303	Mandibular prognathia	4038	LRP4	OMIM:614305
HP:0000303	Mandibular prognathia	11133	KPTN	OMIM:615637
HP:0000303	Mandibular prognathia	11133	KPTN	ORPHA:397612
HP:0000303	Mandibular prognathia	8924	HERC2	OMIM:615516
HP:0000303	Mandibular prognathia	546	ATRX	OMIM:301040
HP:0000303	Mandibular prognathia	4054	LTBP3	OMIM:601216
HP:0000303	Mandibular prognathia	4041	LRP5	ORPHA:3416
HP:0000303	Mandibular prognathia	4041	LRP5	ORPHA:2790
HP:0000303	Mandibular prognathia	23291	FBXW11	OMIM:618914
HP:0000303	Mandibular prognathia	176	ACAN	OMIM:612813
HP:0000303	Mandibular prognathia	176	ACAN	OMIM:165800
HP:0000303	Mandibular prognathia	176	ACAN	ORPHA:171866
HP:0000303	Mandibular prognathia	4952	OCRL	ORPHA:534
HP:0000303	Mandibular prognathia	9179	AP4M1	OMIM:612936
HP:0000303	Mandibular prognathia	56975	FAM20C	OMIM:259775
HP:0000303	Mandibular prognathia	54808	DYM	OMIM:223800
HP:0000303	Mandibular prognathia	90161	HS6ST2	OMIM:301025
HP:0000303	Mandibular prognathia	4948	OCA2	ORPHA:98794
HP:0000303	Mandibular prognathia	55777	MBD5	OMIM:156200
HP:0000303	Mandibular prognathia	4621	MYH3	OMIM:193700
HP:0000303	Mandibular prognathia	56915	EXOSC5	OMIM:619576
HP:0000303	Mandibular prognathia	84068	SLC10A7	OMIM:618363
HP:0000303	Mandibular prognathia	3756	KCNH1	OMIM:135500
HP:0000303	Mandibular prognathia	7965	AIMP2	OMIM:618006
HP:0000303	Mandibular prognathia	201163	FLCN	OMIM:610883
HP:0000303	Mandibular prognathia	9820	CUL7	OMIM:273750
HP:0000303	Mandibular prognathia	92344	GORAB	OMIM:231070
HP:0000303	Mandibular prognathia	92344	GORAB	ORPHA:2078
HP:0000303	Mandibular prognathia	23389	MED13L	ORPHA:369891
HP:0000303	Mandibular prognathia	7136	TNNI2	OMIM:601680
HP:0000303	Mandibular prognathia	7703	PCGF2	OMIM:618371
HP:0000303	Mandibular prognathia	10524	KAT5	OMIM:619103
HP:0000303	Mandibular prognathia	54681	P4HTM	OMIM:618493
HP:0000303	Mandibular prognathia	10297	APC2	OMIM:617169
HP:0000303	Mandibular prognathia	92949	ADAMTSL1	ORPHA:521445
HP:0000303	Mandibular prognathia	6023	RMRP	OMIM:607095
HP:0000303	Mandibular prognathia	860	RUNX2	ORPHA:1452
HP:0000303	Mandibular prognathia	54551	MAGEL2	OMIM:615547
HP:0000303	Mandibular prognathia	9791	PTDSS1	OMIM:151050
HP:0000303	Mandibular prognathia	9791	PTDSS1	ORPHA:2658
HP:0000303	Mandibular prognathia	3643	INSR	OMIM:262190
HP:0000303	Mandibular prognathia	3643	INSR	ORPHA:769
HP:0000303	Mandibular prognathia	2290	FOXG1	ORPHA:261144
HP:0000303	Mandibular prognathia	6424	SFRP4	OMIM:265900
HP:0000303	Mandibular prognathia	2892	GRIA3	ORPHA:364028
HP:0000303	Mandibular prognathia	26580	BSCL2	OMIM:269700
HP:0000303	Mandibular prognathia	26580	BSCL2	ORPHA:528
HP:0000303	Mandibular prognathia	10847	SRCAP	OMIM:619595
HP:0000303	Mandibular prognathia	7737	RNF113A	OMIM:300953
HP:0000303	Mandibular prognathia	2588	GALNS	OMIM:253000
HP:0000303	Mandibular prognathia	117581	TWIST2	OMIM:209885
HP:0000303	Mandibular prognathia	51002	TPRKB	OMIM:617731
HP:0000303	Mandibular prognathia	285590	SH3PXD2B	ORPHA:137834
HP:0000303	Mandibular prognathia	4810	NHS	ORPHA:627
HP:0000303	Mandibular prognathia	6928	HNF1B	ORPHA:93111
HP:0000303	Mandibular prognathia	4796	TONSL	ORPHA:93357
HP:0000303	Mandibular prognathia	4796	TONSL	OMIM:271510
HP:0000303	Mandibular prognathia	63932	STEEP1	OMIM:301013
HP:0000303	Mandibular prognathia	284252	KCTD1	OMIM:181270
HP:0000303	Mandibular prognathia	2893	GRIA4	OMIM:617864
HP:0000303	Mandibular prognathia	8292	COLQ	ORPHA:98915
HP:0000303	Mandibular prognathia	3913	LAMB2	ORPHA:98915
HP:0000303	Mandibular prognathia	4094	MAF	OMIM:601088
HP:0000303	Mandibular prognathia	5831	PYCR1	ORPHA:2078
HP:0000303	Mandibular prognathia	84081	NSRP1	OMIM:620001
HP:0000303	Mandibular prognathia	5468	PPARG	ORPHA:528
HP:0000303	Mandibular prognathia	284119	CAVIN1	ORPHA:528
HP:0000303	Mandibular prognathia	2353	FOS	ORPHA:528
HP:0000303	Mandibular prognathia	857	CAV1	ORPHA:528
HP:0000303	Mandibular prognathia	1795	DOCK3	OMIM:618292
HP:0000303	Mandibular prognathia	11141	IL1RAPL1	OMIM:300143
HP:0000303	Mandibular prognathia	23102	TBC1D2B	ORPHA:397973
HP:0000303	Mandibular prognathia	3832	KIF11	OMIM:152950
HP:0000303	Mandibular prognathia	83452	RAB33B	OMIM:615222
HP:0000303	Mandibular prognathia	5567	PRKACB	OMIM:619143
HP:0000303	Mandibular prognathia	529	ATP6V1E1	OMIM:617402
HP:0000303	Mandibular prognathia	1460	CSNK2B	OMIM:618732
HP:0000303	Mandibular prognathia	4654	MYOD1	OMIM:618975
HP:0000303	Mandibular prognathia	84168	ANTXR1	ORPHA:2067
HP:0000303	Mandibular prognathia	57194	ATP10A	ORPHA:411515
HP:0000303	Mandibular prognathia	25886	POC1A	OMIM:614813
HP:0000154	Wide mouth	8450	CUL4B	OMIM:300354
HP:0000154	Wide mouth	8450	CUL4B	ORPHA:85293
HP:0000154	Wide mouth	158	ADSL	OMIM:103050
HP:0000154	Wide mouth	10262	SF3B4	OMIM:154400
HP:0000154	Wide mouth	10262	SF3B4	ORPHA:245
HP:0000154	Wide mouth	8367	H4C5	OMIM:619950
HP:0000154	Wide mouth	23241	PACS2	OMIM:618067
HP:0000154	Wide mouth	23135	KDM6B	OMIM:618505
HP:0000154	Wide mouth	6659	SOX4	OMIM:618506
HP:0000154	Wide mouth	6659	SOX4	ORPHA:1465
HP:0000154	Wide mouth	23556	PIGN	ORPHA:2059
HP:0000154	Wide mouth	23556	PIGN	ORPHA:280633
HP:0000154	Wide mouth	5894	RAF1	OMIM:611553
HP:0000154	Wide mouth	145173	B3GLCT	ORPHA:709
HP:0000154	Wide mouth	10274	STAG1	ORPHA:502434
HP:0000154	Wide mouth	10274	STAG1	OMIM:617635
HP:0000154	Wide mouth	84942	WDR73	OMIM:251300
HP:0000154	Wide mouth	10992	SF3B2	OMIM:164210
HP:0000154	Wide mouth	54968	TMEM70	ORPHA:1194
HP:0000154	Wide mouth	374654	KIF7	OMIM:200990
HP:0000154	Wide mouth	9578	CDC42BPB	OMIM:619841
HP:0000154	Wide mouth	3020	H3-3A	OMIM:619720
HP:0000154	Wide mouth	10300	KATNB1	OMIM:616212
HP:0000154	Wide mouth	80816	ASXL3	OMIM:615485
HP:0000154	Wide mouth	1855	DVL1	OMIM:616331
HP:0000154	Wide mouth	55690	PACS1	OMIM:615009
HP:0000154	Wide mouth	55690	PACS1	ORPHA:329224
HP:0000154	Wide mouth	80055	PGAP1	OMIM:615802
HP:0000154	Wide mouth	10847	SRCAP	ORPHA:2044
HP:0000154	Wide mouth	10847	SRCAP	OMIM:136140
HP:0000154	Wide mouth	10847	SRCAP	OMIM:619595
HP:0000154	Wide mouth	1717	DHCR7	ORPHA:818
HP:0000154	Wide mouth	23431	AP4E1	OMIM:613744
HP:0000154	Wide mouth	23431	AP4E1	ORPHA:280763
HP:0000154	Wide mouth	3764	KCNJ8	ORPHA:1517
HP:0000154	Wide mouth	10060	ABCC9	ORPHA:1517
HP:0000154	Wide mouth	10225	CD96	OMIM:211750
HP:0000154	Wide mouth	79158	GNPTAB	OMIM:252500
HP:0000154	Wide mouth	6595	SMARCA2	OMIM:619293
HP:0000154	Wide mouth	6595	SMARCA2	OMIM:601358
HP:0000154	Wide mouth	6595	SMARCA2	ORPHA:3051
HP:0000154	Wide mouth	57492	ARID1B	OMIM:135900
HP:0000154	Wide mouth	57492	ARID1B	ORPHA:1465
HP:0000154	Wide mouth	3899	AFF3	OMIM:619297
HP:0000154	Wide mouth	9739	SETD1A	OMIM:619056
HP:0000154	Wide mouth	815	CAMK2A	OMIM:617798
HP:0000154	Wide mouth	9968	MED12	ORPHA:93932
HP:0000154	Wide mouth	9968	MED12	OMIM:305450
HP:0000154	Wide mouth	64359	NXN	ORPHA:1507
HP:0000154	Wide mouth	4920	ROR2	ORPHA:1507
HP:0000154	Wide mouth	4920	ROR2	OMIM:268310
HP:0000154	Wide mouth	8289	ARID1A	OMIM:614607
HP:0000154	Wide mouth	8289	ARID1A	ORPHA:1465
HP:0000154	Wide mouth	6598	SMARCB1	OMIM:614608
HP:0000154	Wide mouth	6598	SMARCB1	ORPHA:1465
HP:0000154	Wide mouth	6597	SMARCA4	OMIM:614609
HP:0000154	Wide mouth	6597	SMARCA4	ORPHA:1465
HP:0000154	Wide mouth	10484	SEC23A	OMIM:607812
HP:0000154	Wide mouth	10484	SEC23A	ORPHA:50814
HP:0000154	Wide mouth	6885	MAP3K7	OMIM:157800
HP:0000154	Wide mouth	56992	KIF15	OMIM:619981
HP:0000154	Wide mouth	2720	GLB1	OMIM:253010
HP:0000154	Wide mouth	57178	ZMIZ1	OMIM:618659
HP:0000154	Wide mouth	2783	GNB2	OMIM:619503
HP:0000154	Wide mouth	200734	SPRED2	OMIM:619745
HP:0000154	Wide mouth	89910	UBE3B	ORPHA:2707
HP:0000154	Wide mouth	6602	SMARCD1	OMIM:618779
HP:0000154	Wide mouth	6602	SMARCD1	ORPHA:1465
HP:0000154	Wide mouth	55623	THUMPD1	OMIM:619989
HP:0000154	Wide mouth	526	ATP6V1B2	ORPHA:3473
HP:0000154	Wide mouth	3756	KCNH1	ORPHA:3473
HP:0000154	Wide mouth	3756	KCNH1	OMIM:611816
HP:0000154	Wide mouth	3756	KCNH1	OMIM:135500
HP:0000154	Wide mouth	3756	KCNH1	ORPHA:420561
HP:0000154	Wide mouth	3782	KCNN3	ORPHA:3473
HP:0000154	Wide mouth	4247	MGAT2	OMIM:212066
HP:0000154	Wide mouth	9653	HS2ST1	OMIM:619194
HP:0000154	Wide mouth	3981	LIG4	ORPHA:235
HP:0000154	Wide mouth	54888	NSUN2	ORPHA:235
HP:0000154	Wide mouth	8493	PPM1D	OMIM:617450
HP:0000154	Wide mouth	10717	AP4B1	OMIM:614066
HP:0000154	Wide mouth	10717	AP4B1	ORPHA:280763
HP:0000154	Wide mouth	11154	AP4S1	OMIM:614067
HP:0000154	Wide mouth	11154	AP4S1	ORPHA:280763
HP:0000154	Wide mouth	7862	BRPF1	OMIM:617333
HP:0000154	Wide mouth	8363	H4C11	OMIM:619759
HP:0000154	Wide mouth	5604	MAP2K1	OMIM:615279
HP:0000154	Wide mouth	5290	PIK3CA	ORPHA:60040
HP:0000154	Wide mouth	26053	AUTS2	OMIM:615834
HP:0000154	Wide mouth	10013	HDAC6	ORPHA:163966
HP:0000154	Wide mouth	6804	STX1A	ORPHA:904
HP:0000154	Wide mouth	7461	CLIP2	ORPHA:904
HP:0000154	Wide mouth	84277	DNAJC30	ORPHA:904
HP:0000154	Wide mouth	8468	FKBP6	ORPHA:904
HP:0000154	Wide mouth	5982	RFC2	ORPHA:904
HP:0000154	Wide mouth	2969	GTF2I	ORPHA:904
HP:0000154	Wide mouth	3984	LIMK1	ORPHA:904
HP:0000154	Wide mouth	9569	GTF2IRD1	ORPHA:904
HP:0000154	Wide mouth	155382	VPS37D	ORPHA:904
HP:0000154	Wide mouth	155368	METTL27	ORPHA:904
HP:0000154	Wide mouth	114049	BUD23	ORPHA:904
HP:0000154	Wide mouth	7458	EIF4H	ORPHA:904
HP:0000154	Wide mouth	84163	GTF2IRD2	ORPHA:904
HP:0000154	Wide mouth	9275	BCL7B	ORPHA:904
HP:0000154	Wide mouth	26608	TBL2	ORPHA:904
HP:0000154	Wide mouth	653361	NCF1	ORPHA:904
HP:0000154	Wide mouth	135886	TMEM270	ORPHA:904
HP:0000154	Wide mouth	51085	MLXIPL	ORPHA:904
HP:0000154	Wide mouth	9031	BAZ1B	ORPHA:904
HP:0000154	Wide mouth	2006	ELN	ORPHA:904
HP:0000154	Wide mouth	116115	ZNF526	OMIM:619877
HP:0000154	Wide mouth	79753	SNIP1	OMIM:614501
HP:0000154	Wide mouth	8364	H4C3	OMIM:619758
HP:0000154	Wide mouth	6638	SNRPN	OMIM:105830
HP:0000154	Wide mouth	6638	SNRPN	ORPHA:177907
HP:0000154	Wide mouth	6638	SNRPN	ORPHA:411515
HP:0000154	Wide mouth	7337	UBE3A	OMIM:105830
HP:0000154	Wide mouth	7337	UBE3A	ORPHA:98794
HP:0000154	Wide mouth	7337	UBE3A	ORPHA:98795
HP:0000154	Wide mouth	7337	UBE3A	ORPHA:411511
HP:0000154	Wide mouth	7337	UBE3A	ORPHA:411515
HP:0000154	Wide mouth	9719	ADAMTSL2	OMIM:231050
HP:0000154	Wide mouth	79796	ALG9	ORPHA:79328
HP:0000154	Wide mouth	79796	ALG9	OMIM:608776
HP:0000154	Wide mouth	57459	GATAD2B	ORPHA:363686
HP:0000154	Wide mouth	57459	GATAD2B	OMIM:615074
HP:0000154	Wide mouth	6558	SLC12A2	OMIM:619080
HP:0000154	Wide mouth	253959	RALGAPA1	OMIM:618797
HP:0000154	Wide mouth	5594	MAPK1	OMIM:619087
HP:0000154	Wide mouth	4285	MIPEP	OMIM:617228
HP:0000154	Wide mouth	7025	NR2F1	OMIM:615722
HP:0000154	Wide mouth	54499	TMCO1	ORPHA:1394
HP:0000154	Wide mouth	79971	WLS	OMIM:619648
HP:0000154	Wide mouth	6605	SMARCE1	OMIM:616938
HP:0000154	Wide mouth	6605	SMARCE1	ORPHA:1465
HP:0000154	Wide mouth	471	ATIC	OMIM:608688
HP:0000154	Wide mouth	471	ATIC	ORPHA:250977
HP:0000154	Wide mouth	6925	TCF4	OMIM:610954
HP:0000154	Wide mouth	6925	TCF4	ORPHA:2896
HP:0000154	Wide mouth	10743	RAI1	ORPHA:1713
HP:0000154	Wide mouth	10430	TMEM147	OMIM:620075
HP:0000154	Wide mouth	5373	PMM2	ORPHA:79318
HP:0000154	Wide mouth	2239	GPC4	ORPHA:373
HP:0000154	Wide mouth	2239	GPC4	OMIM:312870
HP:0000154	Wide mouth	2719	GPC3	ORPHA:373
HP:0000154	Wide mouth	2719	GPC3	OMIM:312870
HP:0000154	Wide mouth	54941	RNF125	OMIM:616260
HP:0000154	Wide mouth	6949	TCOF1	OMIM:154500
HP:0000154	Wide mouth	6949	TCOF1	ORPHA:861
HP:0000154	Wide mouth	9652	SKIC3	OMIM:222470
HP:0000154	Wide mouth	546	ATRX	OMIM:309580
HP:0000154	Wide mouth	7994	KAT6A	OMIM:616268
HP:0000154	Wide mouth	57688	ZSWIM6	ORPHA:1827
HP:0000154	Wide mouth	51574	LARP7	ORPHA:319671
HP:0000154	Wide mouth	51574	LARP7	OMIM:615071
HP:0000154	Wide mouth	51322	WAC	ORPHA:466950
HP:0000154	Wide mouth	6513	SLC2A1	ORPHA:1942
HP:0000154	Wide mouth	8831	SYNGAP1	ORPHA:1942
HP:0000154	Wide mouth	8831	SYNGAP1	ORPHA:544254
HP:0000154	Wide mouth	1173	AP2M1	ORPHA:1942
HP:0000154	Wide mouth	6323	SCN1A	ORPHA:1942
HP:0000154	Wide mouth	340533	NEXMIF	ORPHA:1942
HP:0000154	Wide mouth	1106	CHD2	ORPHA:1942
HP:0000154	Wide mouth	6529	SLC6A1	ORPHA:1942
HP:0000154	Wide mouth	117581	TWIST2	ORPHA:920
HP:0000154	Wide mouth	117581	TWIST2	OMIM:200110
HP:0000154	Wide mouth	117581	TWIST2	ORPHA:1231
HP:0000154	Wide mouth	117581	TWIST2	OMIM:209885
HP:0000154	Wide mouth	5631	PRPS1	OMIM:300661
HP:0000154	Wide mouth	8295	TRRAP	OMIM:618454
HP:0000154	Wide mouth	9742	IFT140	OMIM:266920
HP:0000154	Wide mouth	54903	MKS1	OMIM:249000
HP:0000154	Wide mouth	1642	DDB1	OMIM:619426
HP:0000154	Wide mouth	7319	UBE2A	ORPHA:163956
HP:0000154	Wide mouth	7319	UBE2A	OMIM:300860
HP:0000154	Wide mouth	6654	SOS1	OMIM:610733
HP:0000154	Wide mouth	8905	AP1S2	OMIM:304340
HP:0000154	Wide mouth	6888	TALDO1	OMIM:606003
HP:0000154	Wide mouth	10075	HUWE1	OMIM:309590
HP:0000154	Wide mouth	11160	ERLIN2	ORPHA:280384
HP:0000154	Wide mouth	11160	ERLIN2	ORPHA:209951
HP:0000154	Wide mouth	9488	PIGB	OMIM:618580
HP:0000154	Wide mouth	23013	SPEN	OMIM:619312
HP:0000154	Wide mouth	56896	DPYSL5	OMIM:619435
HP:0000154	Wide mouth	23394	ADNP	OMIM:615873
HP:0000154	Wide mouth	92335	STRADA	ORPHA:500533
HP:0000154	Wide mouth	92335	STRADA	OMIM:611087
HP:0000154	Wide mouth	10785	WDR4	OMIM:618347
HP:0000154	Wide mouth	6418	SET	OMIM:618106
HP:0000154	Wide mouth	91147	TMEM67	OMIM:216360
HP:0000154	Wide mouth	128869	PIGU	OMIM:618590
HP:0000154	Wide mouth	51412	ACTL6B	OMIM:618470
HP:0000154	Wide mouth	7707	ZNF148	OMIM:617260
HP:0000154	Wide mouth	57520	HECW2	OMIM:617268
HP:0000154	Wide mouth	113179	ADAT3	ORPHA:363528
HP:0000154	Wide mouth	998	CDC42	OMIM:616737
HP:0000154	Wide mouth	998	CDC42	ORPHA:487796
HP:0000154	Wide mouth	23097	CDK19	OMIM:618916
HP:0000154	Wide mouth	9179	AP4M1	OMIM:612936
HP:0000154	Wide mouth	9179	AP4M1	ORPHA:280763
HP:0000154	Wide mouth	56975	FAM20C	OMIM:259775
HP:0000154	Wide mouth	4948	OCA2	ORPHA:98794
HP:0000154	Wide mouth	55777	MBD5	OMIM:156200
HP:0000154	Wide mouth	56915	EXOSC5	OMIM:619576
HP:0000154	Wide mouth	10265	IRX5	OMIM:611174
HP:0000154	Wide mouth	3643	INSR	OMIM:246200
HP:0000154	Wide mouth	5977	DPF2	ORPHA:1465
HP:0000154	Wide mouth	5977	DPF2	OMIM:618027
HP:0000154	Wide mouth	6601	SMARCC2	ORPHA:1465
HP:0000154	Wide mouth	196528	ARID2	ORPHA:1465
HP:0000154	Wide mouth	6664	SOX11	ORPHA:1465
HP:0000154	Wide mouth	27315	PGAP2	OMIM:614207
HP:0000154	Wide mouth	201163	FLCN	OMIM:610883
HP:0000154	Wide mouth	9378	NRXN1	OMIM:614325
HP:0000154	Wide mouth	9969	MED13	OMIM:618009
HP:0000154	Wide mouth	1063	CENPF	OMIM:243605
HP:0000154	Wide mouth	259232	NALCN	OMIM:615419
HP:0000154	Wide mouth	23389	MED13L	ORPHA:369891
HP:0000154	Wide mouth	23389	MED13L	OMIM:616789
HP:0000154	Wide mouth	91647	ATPAF2	OMIM:604273
HP:0000154	Wide mouth	80311	KLHL15	OMIM:300982
HP:0000154	Wide mouth	6045	RNF2	OMIM:619460
HP:0000154	Wide mouth	5422	POLA1	OMIM:301030
HP:0000154	Wide mouth	10524	KAT5	OMIM:619103
HP:0000154	Wide mouth	3188	HNRNPH2	OMIM:300986
HP:0000154	Wide mouth	2475	MTOR	ORPHA:457485
HP:0000154	Wide mouth	2475	MTOR	OMIM:616638
HP:0000154	Wide mouth	175	AGA	OMIM:208400
HP:0000154	Wide mouth	5723	PSPH	ORPHA:79350
HP:0000154	Wide mouth	26040	SETBP1	ORPHA:798
HP:0000154	Wide mouth	60	ACTB	OMIM:243310
HP:0000154	Wide mouth	60	ACTB	ORPHA:2995
HP:0000154	Wide mouth	50801	KCNK4	OMIM:618381
HP:0000154	Wide mouth	10771	ZMYND11	OMIM:616083
HP:0000154	Wide mouth	6197	RPS6KA3	ORPHA:192
HP:0000154	Wide mouth	57003	CCDC47	OMIM:618268
HP:0000154	Wide mouth	71	ACTG1	OMIM:614583
HP:0000154	Wide mouth	71	ACTG1	ORPHA:2995
HP:0000154	Wide mouth	7737	RNF113A	OMIM:300953
HP:0000154	Wide mouth	7204	TRIO	OMIM:618825
HP:0000154	Wide mouth	2588	GALNS	OMIM:253000
HP:0000154	Wide mouth	9791	PTDSS1	ORPHA:2658
HP:0000154	Wide mouth	23040	MYT1L	OMIM:616521
HP:0000154	Wide mouth	285590	SH3PXD2B	ORPHA:137834
HP:0000154	Wide mouth	285590	SH3PXD2B	OMIM:249420
HP:0000154	Wide mouth	3425	IDUA	ORPHA:93474
HP:0000154	Wide mouth	80036	TRPM3	OMIM:620224
HP:0000154	Wide mouth	84172	POLR1B	ORPHA:861
HP:0000154	Wide mouth	9533	POLR1C	ORPHA:861
HP:0000154	Wide mouth	51082	POLR1D	ORPHA:861
HP:0000154	Wide mouth	374879	ZNF699	OMIM:619488
HP:0000154	Wide mouth	55617	TASP1	OMIM:618950
HP:0000154	Wide mouth	4841	NONO	OMIM:300967
HP:0000154	Wide mouth	4841	NONO	ORPHA:466791
HP:0000154	Wide mouth	54870	QRICH1	OMIM:617982
HP:0000154	Wide mouth	29123	ANKRD11	ORPHA:261250
HP:0000154	Wide mouth	6299	SALL1	ORPHA:857
HP:0000154	Wide mouth	51339	DACT1	ORPHA:857
HP:0000154	Wide mouth	2799	GNS	OMIM:252940
HP:0000154	Wide mouth	6748	SSR4	ORPHA:370927
HP:0000154	Wide mouth	6748	SSR4	OMIM:300934
HP:0000154	Wide mouth	9320	TRIP12	OMIM:617752
HP:0000154	Wide mouth	51780	KDM3B	OMIM:618846
HP:0000154	Wide mouth	1663	DDX11	OMIM:613398
HP:0000154	Wide mouth	9487	PIGL	OMIM:280000
HP:0000154	Wide mouth	9757	KMT2B	OMIM:619934
HP:0000154	Wide mouth	3778	KCNMA1	OMIM:618729
HP:0000154	Wide mouth	64802	NMNAT1	OMIM:619260
HP:0000154	Wide mouth	1806	DPYD	ORPHA:293948
HP:0000154	Wide mouth	57194	ATP10A	ORPHA:411515
HP:0000278	Retrognathia	3476	IGBP1	OMIM:300472
HP:0000278	Retrognathia	3476	IGBP1	ORPHA:52055
HP:0000278	Retrognathia	2294	FOXF1	OMIM:265380
HP:0000278	Retrognathia	2077	ERF	OMIM:600775
HP:0000278	Retrognathia	8367	H4C5	OMIM:619950
HP:0000278	Retrognathia	10046	MAMLD1	ORPHA:456328
HP:0000278	Retrognathia	4534	MTM1	ORPHA:456328
HP:0000278	Retrognathia	8506	CNTNAP1	OMIM:618186
HP:0000278	Retrognathia	8425	LTBP4	OMIM:613177
HP:0000278	Retrognathia	10054	UBA2	OMIM:619959
HP:0000278	Retrognathia	57539	WDR35	OMIM:613610
HP:0000278	Retrognathia	81857	MED25	OMIM:616449
HP:0000278	Retrognathia	81857	MED25	ORPHA:464738
HP:0000278	Retrognathia	347734	SLC35B2	OMIM:620269
HP:0000278	Retrognathia	2629	GBA1	OMIM:608013
HP:0000278	Retrognathia	80816	ASXL3	OMIM:615485
HP:0000278	Retrognathia	6536	SLC6A9	OMIM:617301
HP:0000278	Retrognathia	318	NUDT2	OMIM:619844
HP:0000278	Retrognathia	129563	DIS3L2	ORPHA:2849
HP:0000278	Retrognathia	9915	ARNT2	OMIM:615926
HP:0000278	Retrognathia	29072	SETD2	OMIM:620157
HP:0000278	Retrognathia	29072	SETD2	OMIM:620155
HP:0000278	Retrognathia	26153	KIF26A	OMIM:620156
HP:0000278	Retrognathia	25778	DSTYK	OMIM:270750
HP:0000278	Retrognathia	3190	HNRNPK	OMIM:616580
HP:0000278	Retrognathia	57492	ARID1B	OMIM:135900
HP:0000278	Retrognathia	25885	POLR1A	OMIM:616462
HP:0000278	Retrognathia	23184	MESD	OMIM:618644
HP:0000278	Retrognathia	51319	RSRC1	OMIM:618402
HP:0000278	Retrognathia	79184	BRCC3	ORPHA:280679
HP:0000278	Retrognathia	7841	MOGS	OMIM:606056
HP:0000278	Retrognathia	7841	MOGS	ORPHA:79330
HP:0000278	Retrognathia	171023	ASXL1	ORPHA:97297
HP:0000278	Retrognathia	171023	ASXL1	OMIM:605039
HP:0000278	Retrognathia	652	BMP4	OMIM:607932
HP:0000278	Retrognathia	8726	EED	OMIM:617561
HP:0000278	Retrognathia	8726	EED	ORPHA:3447
HP:0000278	Retrognathia	26053	AUTS2	ORPHA:352490
HP:0000278	Retrognathia	84314	TMEM107	OMIM:617563
HP:0000278	Retrognathia	56992	KIF15	OMIM:619981
HP:0000278	Retrognathia	8550	MAPKAPK5	OMIM:619869
HP:0000278	Retrognathia	1954	MEGF8	OMIM:614976
HP:0000278	Retrognathia	89910	UBE3B	ORPHA:2707
HP:0000278	Retrognathia	1906	EDN1	OMIM:615706
HP:0000278	Retrognathia	4247	MGAT2	OMIM:212066
HP:0000278	Retrognathia	54496	PRMT7	ORPHA:464288
HP:0000278	Retrognathia	54496	PRMT7	OMIM:617157
HP:0000278	Retrognathia	2200	FBN1	OMIM:616914
HP:0000278	Retrognathia	2200	FBN1	ORPHA:2462
HP:0000278	Retrognathia	2200	FBN1	OMIM:154700
HP:0000278	Retrognathia	2200	FBN1	ORPHA:91387
HP:0000278	Retrognathia	23265	EXOC7	OMIM:619072
HP:0000278	Retrognathia	9653	HS2ST1	OMIM:619194
HP:0000278	Retrognathia	51633	OTUD6B	OMIM:617452
HP:0000278	Retrognathia	51633	OTUD6B	ORPHA:505237
HP:0000278	Retrognathia	1857	DVL3	ORPHA:3107
HP:0000278	Retrognathia	7474	WNT5A	ORPHA:3107
HP:0000278	Retrognathia	7474	WNT5A	OMIM:180700
HP:0000278	Retrognathia	1855	DVL1	ORPHA:3107
HP:0000278	Retrognathia	1855	DVL1	OMIM:180700
HP:0000278	Retrognathia	2535	FZD2	ORPHA:3107
HP:0000278	Retrognathia	6125	RPL5	OMIM:612561
HP:0000278	Retrognathia	3481	IGF2	OMIM:616489
HP:0000278	Retrognathia	9508	ADAMTS3	ORPHA:2136
HP:0000278	Retrognathia	147372	CCBE1	ORPHA:2136
HP:0000278	Retrognathia	147372	CCBE1	OMIM:235510
HP:0000278	Retrognathia	79633	FAT4	ORPHA:2136
HP:0000278	Retrognathia	9841	ZBTB24	OMIM:614069
HP:0000278	Retrognathia	8364	H4C3	OMIM:619758
HP:0000278	Retrognathia	10290	SPEG	OMIM:615959
HP:0000278	Retrognathia	10290	SPEG	ORPHA:169186
HP:0000278	Retrognathia	58	ACTA1	OMIM:161800
HP:0000278	Retrognathia	2138	EYA1	ORPHA:107
HP:0000278	Retrognathia	2138	EYA1	OMIM:602588
HP:0000278	Retrognathia	147912	SIX5	ORPHA:107
HP:0000278	Retrognathia	6495	SIX1	ORPHA:107
HP:0000278	Retrognathia	79228	THOC6	ORPHA:363444
HP:0000278	Retrognathia	5159	PDGFRB	OMIM:601812
HP:0000278	Retrognathia	27086	FOXP1	ORPHA:391372
HP:0000278	Retrognathia	27086	FOXP1	OMIM:613670
HP:0000278	Retrognathia	53335	BCL11A	OMIM:617101
HP:0000278	Retrognathia	163175	LGI4	OMIM:617468
HP:0000278	Retrognathia	7025	NR2F1	OMIM:615722
HP:0000278	Retrognathia	9993	DGCR2	OMIM:192430
HP:0000278	Retrognathia	8220	ESS2	OMIM:192430
HP:0000278	Retrognathia	8214	DGCR6	OMIM:192430
HP:0000278	Retrognathia	54487	DGCR8	OMIM:192430
HP:0000278	Retrognathia	6899	TBX1	OMIM:192430
HP:0000278	Retrognathia	5422	POLA1	ORPHA:163976
HP:0000278	Retrognathia	5422	POLA1	OMIM:301030
HP:0000278	Retrognathia	388015	RTL1	ORPHA:96334
HP:0000278	Retrognathia	388015	RTL1	ORPHA:254528
HP:0000278	Retrognathia	8788	DLK1	ORPHA:96334
HP:0000278	Retrognathia	8788	DLK1	ORPHA:254528
HP:0000278	Retrognathia	55384	MEG3	ORPHA:96334
HP:0000278	Retrognathia	55384	MEG3	ORPHA:254528
HP:0000278	Retrognathia	91949	COG7	ORPHA:79333
HP:0000278	Retrognathia	91949	COG7	OMIM:608779
HP:0000278	Retrognathia	10667	FARS2	ORPHA:466722
HP:0000278	Retrognathia	11128	POLR3A	ORPHA:3455
HP:0000278	Retrognathia	23065	EMC1	ORPHA:480898
HP:0000278	Retrognathia	23065	EMC1	OMIM:616875
HP:0000278	Retrognathia	56975	FAM20C	ORPHA:1832
HP:0000278	Retrognathia	2556	GABRA3	OMIM:301091
HP:0000278	Retrognathia	3187	HNRNPH1	OMIM:620083
HP:0000278	Retrognathia	3930	LBR	OMIM:215140
HP:0000278	Retrognathia	4920	ROR2	OMIM:268310
HP:0000278	Retrognathia	5373	PMM2	ORPHA:79318
HP:0000278	Retrognathia	4677	NARS1	OMIM:619092
HP:0000278	Retrognathia	57479	PRR12	OMIM:619539
HP:0000278	Retrognathia	729920	CRPPA	OMIM:614643
HP:0000278	Retrognathia	4088	SMAD3	OMIM:613795
HP:0000278	Retrognathia	4088	SMAD3	ORPHA:284984
HP:0000278	Retrognathia	4088	SMAD3	ORPHA:91387
HP:0000278	Retrognathia	2146	EZH2	OMIM:277590
HP:0000278	Retrognathia	2146	EZH2	ORPHA:3447
HP:0000278	Retrognathia	55835	CENPJ	OMIM:613676
HP:0000278	Retrognathia	7048	TGFBR2	OMIM:610168
HP:0000278	Retrognathia	7048	TGFBR2	ORPHA:91387
HP:0000278	Retrognathia	404672	GTF2H5	ORPHA:33364
HP:0000278	Retrognathia	833	CARS1	ORPHA:33364
HP:0000278	Retrognathia	2068	ERCC2	ORPHA:33364
HP:0000278	Retrognathia	2068	ERCC2	OMIM:601675
HP:0000278	Retrognathia	7737	RNF113A	ORPHA:33364
HP:0000278	Retrognathia	136647	MPLKIP	ORPHA:33364
HP:0000278	Retrognathia	136647	MPLKIP	OMIM:234050
HP:0000278	Retrognathia	6897	TARS1	ORPHA:33364
HP:0000278	Retrognathia	2071	ERCC3	ORPHA:33364
HP:0000278	Retrognathia	2961	GTF2E2	ORPHA:33364
HP:0000278	Retrognathia	79791	FBXO31	OMIM:615979
HP:0000278	Retrognathia	1487	CTBP1	OMIM:617915
HP:0000278	Retrognathia	64324	NSD1	ORPHA:3447
HP:0000278	Retrognathia	23512	SUZ12	ORPHA:3447
HP:0000278	Retrognathia	641	BLM	ORPHA:125
HP:0000278	Retrognathia	10533	ATG7	OMIM:619422
HP:0000278	Retrognathia	2033	EP300	OMIM:613684
HP:0000278	Retrognathia	2033	EP300	OMIM:180849
HP:0000278	Retrognathia	867	CBL	OMIM:613563
HP:0000278	Retrognathia	7046	TGFBR1	OMIM:609192
HP:0000278	Retrognathia	7046	TGFBR1	ORPHA:91387
HP:0000278	Retrognathia	51013	EXOSC1	OMIM:619304
HP:0000278	Retrognathia	1642	DDB1	OMIM:619426
HP:0000278	Retrognathia	6497	SKI	ORPHA:2462
HP:0000278	Retrognathia	63895	PIEZO2	ORPHA:2461
HP:0000278	Retrognathia	196528	ARID2	OMIM:617808
HP:0000278	Retrognathia	27152	INTU	OMIM:617926
HP:0000278	Retrognathia	389827	MYMK	OMIM:254940
HP:0000278	Retrognathia	3720	JARID2	OMIM:620098
HP:0000278	Retrognathia	274	BIN1	ORPHA:169186
HP:0000278	Retrognathia	6261	RYR1	ORPHA:169186
HP:0000278	Retrognathia	8243	SMC1A	OMIM:301044
HP:0000278	Retrognathia	1281	COL3A1	OMIM:618343
HP:0000278	Retrognathia	10466	COG5	ORPHA:263487
HP:0000278	Retrognathia	23013	SPEN	OMIM:619312
HP:0000278	Retrognathia	30000	TNPO2	OMIM:619556
HP:0000278	Retrognathia	1859	DYRK1A	ORPHA:268261
HP:0000278	Retrognathia	54517	PUS7	OMIM:618342
HP:0000278	Retrognathia	79650	USB1	OMIM:604173
HP:0000278	Retrognathia	55593	OTUD5	OMIM:301056
HP:0000278	Retrognathia	56945	MRPS22	OMIM:611719
HP:0000278	Retrognathia	55315	SLC29A3	OMIM:602782
HP:0000278	Retrognathia	55869	HDAC8	OMIM:300882
HP:0000278	Retrognathia	6492	SIM1	ORPHA:171829
HP:0000278	Retrognathia	23291	FBXW11	OMIM:618914
HP:0000278	Retrognathia	9662	CEP135	OMIM:614673
HP:0000278	Retrognathia	4953	ODC1	ORPHA:544488
HP:0000278	Retrognathia	5915	RARB	OMIM:615524
HP:0000278	Retrognathia	2187	FANCB	ORPHA:3412
HP:0000278	Retrognathia	5932	RBBP8	OMIM:251255
HP:0000278	Retrognathia	79068	FTO	OMIM:612938
HP:0000278	Retrognathia	3417	IDH1	ORPHA:99646
HP:0000278	Retrognathia	16	AARS1	OMIM:619691
HP:0000278	Retrognathia	55777	MBD5	OMIM:156200
HP:0000278	Retrognathia	3039	HBA1	ORPHA:98791
HP:0000278	Retrognathia	3040	HBA2	ORPHA:98791
HP:0000278	Retrognathia	56915	EXOSC5	OMIM:619576
HP:0000278	Retrognathia	2530	FUT8	OMIM:618005
HP:0000278	Retrognathia	23511	NUP188	OMIM:618804
HP:0000278	Retrognathia	9719	ADAMTSL2	ORPHA:1901
HP:0000278	Retrognathia	9509	ADAMTS2	ORPHA:1901
HP:0000278	Retrognathia	81620	CDT1	ORPHA:2554
HP:0000278	Retrognathia	5000	ORC4	ORPHA:2554
HP:0000278	Retrognathia	8318	CDC45	ORPHA:2554
HP:0000278	Retrognathia	990	CDC6	ORPHA:2554
HP:0000278	Retrognathia	4998	ORC1	ORPHA:2554
HP:0000278	Retrognathia	91647	ATPAF2	OMIM:604273
HP:0000278	Retrognathia	54539	NDUFB11	ORPHA:2556
HP:0000278	Retrognathia	1349	COX7B	ORPHA:2556
HP:0000278	Retrognathia	3052	HCCS	ORPHA:2556
HP:0000278	Retrognathia	2304	FOXE1	ORPHA:1226
HP:0000278	Retrognathia	444	ASPH	OMIM:601552
HP:0000278	Retrognathia	10943	MSL3	OMIM:301032
HP:0000278	Retrognathia	372	ARCN1	OMIM:617164
HP:0000278	Retrognathia	9758	FRMPD4	OMIM:300983
HP:0000278	Retrognathia	57511	COG6	OMIM:614576
HP:0000278	Retrognathia	51729	WBP11	OMIM:619227
HP:0000278	Retrognathia	5116	PCNT	OMIM:210720
HP:0000278	Retrognathia	5116	PCNT	ORPHA:2637
HP:0000278	Retrognathia	54551	MAGEL2	OMIM:615547
HP:0000278	Retrognathia	139285	AMER1	ORPHA:2780
HP:0000278	Retrognathia	6638	SNRPN	ORPHA:177907
HP:0000278	Retrognathia	9244	CRLF1	OMIM:272430
HP:0000278	Retrognathia	26040	SETBP1	ORPHA:798
HP:0000278	Retrognathia	760	CA2	ORPHA:2785
HP:0000278	Retrognathia	60	ACTB	OMIM:243310
HP:0000278	Retrognathia	60	ACTB	ORPHA:2995
HP:0000278	Retrognathia	9321	TRIP11	ORPHA:166272
HP:0000278	Retrognathia	8943	AP3D1	OMIM:617050
HP:0000278	Retrognathia	71	ACTG1	OMIM:614583
HP:0000278	Retrognathia	71	ACTG1	ORPHA:2995
HP:0000278	Retrognathia	57061	HYMAI	ORPHA:96191
HP:0000278	Retrognathia	5325	PLAGL1	ORPHA:96191
HP:0000278	Retrognathia	29895	MYL11	OMIM:619110
HP:0000278	Retrognathia	348180	CTU2	OMIM:618142
HP:0000278	Retrognathia	10847	SRCAP	OMIM:619595
HP:0000278	Retrognathia	5530	PPP3CA	OMIM:618265
HP:0000278	Retrognathia	1387	CREBBP	OMIM:180849
HP:0000278	Retrognathia	29957	SLC25A24	OMIM:612289
HP:0000278	Retrognathia	79005	SCNM1	OMIM:620107
HP:0000278	Retrognathia	54796	BNC2	ORPHA:93110
HP:0000278	Retrognathia	10269	ZMPSTE24	ORPHA:740
HP:0000278	Retrognathia	84172	POLR1B	ORPHA:861
HP:0000278	Retrognathia	9533	POLR1C	ORPHA:861
HP:0000278	Retrognathia	6949	TCOF1	ORPHA:861
HP:0000278	Retrognathia	4927	NUP88	OMIM:618393
HP:0000278	Retrognathia	7204	TRIO	OMIM:617061
HP:0000278	Retrognathia	1718	DHCR24	ORPHA:35107
HP:0000278	Retrognathia	2222	FDFT1	OMIM:618156
HP:0000278	Retrognathia	8567	MADD	OMIM:619004
HP:0000278	Retrognathia	374879	ZNF699	OMIM:619488
HP:0000278	Retrognathia	440138	ALG11	ORPHA:280071
HP:0000278	Retrognathia	9326	ZNHIT3	OMIM:260565
HP:0000278	Retrognathia	1806	DPYD	ORPHA:1675
HP:0000278	Retrognathia	55704	CCDC88A	OMIM:617507
HP:0000278	Retrognathia	64093	SMOC1	OMIM:206920
HP:0000278	Retrognathia	118924	FRA10AC1	OMIM:620113
HP:0000278	Retrognathia	6519	SLC3A1	ORPHA:163690
HP:0000278	Retrognathia	9581	PREPL	ORPHA:163690
HP:0000278	Retrognathia	22995	CEP152	OMIM:613823
HP:0000278	Retrognathia	2273	FHL1	OMIM:300280
HP:0000278	Retrognathia	7169	TPM2	OMIM:108120
HP:0000278	Retrognathia	55252	ASXL2	OMIM:617190
HP:0000278	Retrognathia	80267	EDEM3	OMIM:619493
HP:0000278	Retrognathia	200205	IBA57	OMIM:615330
HP:0000278	Retrognathia	2733	GLE1	OMIM:611890
HP:0000278	Retrognathia	100151683	RNU4ATAC	ORPHA:2636
HP:0000278	Retrognathia	5718	PSMD12	OMIM:617516
HP:0000278	Retrognathia	3295	HSD17B4	OMIM:261515
HP:0000278	Retrognathia	9757	KMT2B	OMIM:619934
HP:0000278	Retrognathia	4683	NBN	ORPHA:647
HP:0000278	Retrognathia	23522	KAT6B	ORPHA:3047
HP:0000278	Retrognathia	26123	TCTN3	ORPHA:2753
HP:0000278	Retrognathia	26123	TCTN3	OMIM:614815
HP:0000278	Retrognathia	5286	PIK3C2A	ORPHA:557003
HP:0000278	Retrognathia	6223	RPS19	OMIM:105650
HP:0000278	Retrognathia	84842	HPDL	OMIM:619026
HP:0000278	Retrognathia	8516	ITGA8	OMIM:191830
HP:0000278	Retrognathia	375056	MIA3	OMIM:619269
HP:0000278	Retrognathia	18	ABAT	OMIM:613163
HP:0000278	Retrognathia	7043	TGFB3	OMIM:615582
HP:0000278	Retrognathia	7043	TGFB3	ORPHA:91387
HP:0000278	Retrognathia	523	ATP6V1A	OMIM:617403
HP:0000278	Retrognathia	25871	NEPRO	OMIM:618853
HP:0000278	Retrognathia	219844	HYLS1	ORPHA:2189
HP:0000278	Retrognathia	7042	TGFB2	OMIM:614816
HP:0000278	Retrognathia	7042	TGFB2	ORPHA:91387
HP:0000278	Retrognathia	3480	IGF1R	OMIM:270450
HP:0000278	Retrognathia	4629	MYH11	ORPHA:91387
HP:0000278	Retrognathia	4015	LOX	ORPHA:91387
HP:0000278	Retrognathia	4087	SMAD2	ORPHA:91387
HP:0000278	Retrognathia	4089	SMAD4	ORPHA:91387
HP:0000278	Retrognathia	59	ACTA2	ORPHA:91387
HP:0000278	Retrognathia	5592	PRKG1	ORPHA:91387
HP:0000278	Retrognathia	2301	FOXE3	ORPHA:91387
HP:0000278	Retrognathia	4144	MAT2A	ORPHA:91387
HP:0000278	Retrognathia	23493	HEY2	ORPHA:91387
HP:0000278	Retrognathia	8076	MFAP5	ORPHA:91387
HP:0000278	Retrognathia	4638	MYLK	ORPHA:91387
HP:0000278	Retrognathia	2006	ELN	ORPHA:91387
HP:0000278	Retrognathia	1278	COL1A2	ORPHA:1899
HP:0000278	Retrognathia	1277	COL1A1	ORPHA:1899
HP:0000278	Retrognathia	2737	GLI3	ORPHA:672
HP:0000278	Retrognathia	22827	PUF60	ORPHA:508498
HP:0000278	Retrognathia	22827	PUF60	ORPHA:508488
HP:0000278	Retrognathia	57190	SELENON	ORPHA:324604
HP:0000278	Retrognathia	4625	MYH7	ORPHA:324604
HP:0000278	Retrognathia	7273	TTN	ORPHA:324604
HP:0000278	Retrognathia	55906	ZC4H2	OMIM:301041
HP:0000278	Retrognathia	6134	RPL10	OMIM:300998
HP:0000278	Retrognathia	6134	RPL10	ORPHA:459070
HP:0000278	Retrognathia	286053	NSMCE2	OMIM:617253
HP:0000278	Retrognathia	4000	LMNA	OMIM:619793
HP:0000278	Retrognathia	50814	NSDHL	ORPHA:251383
HP:0000278	Retrognathia	9871	SEC24D	OMIM:616294
HP:0000278	Retrognathia	374654	KIF7	OMIM:200990
HP:0000278	Retrognathia	79868	ALG13	OMIM:300884
HP:0000278	Retrognathia	5649	RELN	ORPHA:89844
HP:0000278	Retrognathia	10300	KATNB1	ORPHA:89844
HP:0000278	Retrognathia	54820	NDE1	ORPHA:89844
HP:0000278	Retrognathia	55790	CSGALNACT1	OMIM:618870
HP:0000278	Retrognathia	26224	FBXL3	OMIM:606220
HP:0000278	Retrognathia	4784	NFIX	OMIM:602535
HP:0000278	Retrognathia	84068	SLC10A7	OMIM:618363
HP:0000278	Retrognathia	8260	NAA10	OMIM:300855
HP:0000278	Retrognathia	8260	NAA10	ORPHA:276432
HP:0000278	Retrognathia	113189	CHST14	ORPHA:2953
HP:0000278	Retrognathia	113189	CHST14	OMIM:601776
HP:0000278	Retrognathia	29940	DSE	ORPHA:2953
HP:0000278	Retrognathia	9692	PRORP	OMIM:619737
HP:0000278	Retrognathia	7994	KAT6A	ORPHA:457193
HP:0000278	Retrognathia	7994	KAT6A	OMIM:616268
HP:0000278	Retrognathia	90993	CREB3L1	OMIM:616229
HP:0000278	Retrognathia	9325	TRIP4	OMIM:616866
HP:0000278	Retrognathia	1717	DHCR7	OMIM:270400
HP:0000278	Retrognathia	54968	TMEM70	OMIM:614052
HP:0000278	Retrognathia	1501	CTNND2	ORPHA:281
HP:0000278	Retrognathia	9037	SEMA5A	ORPHA:281
HP:0000278	Retrognathia	23327	NEDD4L	OMIM:617201
HP:0000278	Retrognathia	23545	ATP6V0A2	OMIM:278250
HP:0000278	Retrognathia	9419	CRIPT	OMIM:615789
HP:0000278	Retrognathia	25942	SIN3A	OMIM:613406
HP:0000278	Retrognathia	26005	C2CD3	OMIM:615948
HP:0000278	Retrognathia	26005	C2CD3	ORPHA:434179
HP:0000278	Retrognathia	23594	ORC6	OMIM:613803
HP:0000278	Retrognathia	59336	PRDM13	OMIM:619909
HP:0000278	Retrognathia	10526	IPO8	OMIM:619472
HP:0000278	Retrognathia	340419	RSPO2	OMIM:618021
HP:0000278	Retrognathia	23443	SLC35A3	OMIM:615553
HP:0000278	Retrognathia	9894	TELO2	ORPHA:488642
HP:0000278	Retrognathia	79770	TXNDC15	OMIM:619879
HP:0000278	Retrognathia	25914	RTTN	ORPHA:468631
HP:0000278	Retrognathia	55165	CEP55	OMIM:236500
HP:0000278	Retrognathia	79796	ALG9	ORPHA:79328
HP:0000278	Retrognathia	10682	EBP	OMIM:300960
HP:0000278	Retrognathia	23556	PIGN	ORPHA:280633
HP:0000278	Retrognathia	2571	GAD1	OMIM:619124
HP:0000278	Retrognathia	6872	TAF1	OMIM:300966
HP:0000278	Retrognathia	55617	TASP1	OMIM:618950
HP:0000278	Retrognathia	51305	KCNK9	OMIM:612292
HP:0000278	Retrognathia	5075	PAX1	OMIM:615560
HP:0000278	Retrognathia	8481	OFD1	OMIM:311200
HP:0000278	Retrognathia	60482	SLC5A7	ORPHA:98914
HP:0000278	Retrognathia	4649	MYO9A	ORPHA:98914
HP:0000278	Retrognathia	1305	COL13A1	ORPHA:98914
HP:0000278	Retrognathia	1103	CHAT	ORPHA:98914
HP:0000278	Retrognathia	6576	SLC25A1	ORPHA:98914
HP:0000278	Retrognathia	6843	VAMP1	ORPHA:98914
HP:0000278	Retrognathia	375790	AGRN	ORPHA:98914
HP:0000278	Retrognathia	127833	SYT2	ORPHA:98914
HP:0000278	Retrognathia	6572	SLC18A3	ORPHA:98914
HP:0000278	Retrognathia	6616	SNAP25	ORPHA:98914
HP:0000278	Retrognathia	100506658	OCLN	OMIM:251290
HP:0000278	Retrognathia	55717	WDR11	OMIM:620237
HP:0000278	Retrognathia	124583	CANT1	OMIM:251450
HP:0000278	Retrognathia	7846	TUBA1A	ORPHA:171680
HP:0000278	Retrognathia	342035	GLDN	OMIM:617194
HP:0000278	Retrognathia	153241	CEP120	OMIM:616300
HP:0000278	Retrognathia	8565	YARS1	OMIM:619418
HP:0000278	Retrognathia	8815	BANF1	OMIM:614008
HP:0000278	Retrognathia	51082	POLR1D	OMIM:613717
HP:0000278	Retrognathia	10262	SF3B4	ORPHA:1788
HP:0000278	Retrognathia	9469	CHST3	OMIM:245600
HP:0000278	Retrognathia	26229	B3GAT3	OMIM:245600
HP:0000278	Retrognathia	1280	COL2A1	OMIM:200610
HP:0000278	Retrognathia	11133	KPTN	ORPHA:397612
HP:0000278	Retrognathia	9775	EIF4A3	OMIM:268305
HP:0000278	Retrognathia	26173	INTS1	OMIM:618571
HP:0000278	Retrognathia	51053	GMNN	OMIM:616835
HP:0002055	Curved linear dimple below the lower lip	2245	FGD1	OMIM:305400
HP:0002056	Abnormality of the glabella	57688	ZSWIM6	ORPHA:1827
HP:0002056	Abnormality of the glabella	55252	ASXL2	OMIM:617190
HP:0002056	Abnormality of the glabella	8367	H4C5	OMIM:619950
HP:0002056	Abnormality of the glabella	112858	TP53RK	OMIM:617730
HP:0002056	Abnormality of the glabella	92255	LMBRD2	OMIM:619694
HP:0002056	Abnormality of the glabella	340419	RSPO2	OMIM:618022
HP:0002056	Abnormality of the glabella	54517	PUS7	OMIM:618342
HP:0002056	Abnormality of the glabella	6711	SPTBN1	OMIM:619475
HP:0002056	Abnormality of the glabella	51594	NBAS	OMIM:614800
HP:0002056	Abnormality of the glabella	8092	ALX1	OMIM:613456
HP:0002056	Abnormality of the glabella	8405	SPOP	OMIM:618828
HP:0002056	Abnormality of the glabella	8813	DPM1	ORPHA:79322
HP:0002056	Abnormality of the glabella	4763	NF1	ORPHA:363700
HP:0002056	Abnormality of the glabella	55617	TASP1	OMIM:618950
HP:0002056	Abnormality of the glabella	29998	BICRA	OMIM:619325
HP:0002056	Abnormality of the glabella	55656	INTS8	OMIM:618572
HP:0002056	Abnormality of the glabella	79639	TMEM53	OMIM:619727
HP:0002056	Abnormality of the glabella	53834	FGFRL1	OMIM:194190
HP:0002056	Abnormality of the glabella	1487	CTBP1	OMIM:194190
HP:0002056	Abnormality of the glabella	3954	LETM1	OMIM:194190
HP:0002056	Abnormality of the glabella	7468	NSD2	OMIM:194190
HP:0002056	Abnormality of the glabella	10815	CPLX1	OMIM:194190
HP:0002056	Abnormality of the glabella	388015	RTL1	ORPHA:96334
HP:0002056	Abnormality of the glabella	8788	DLK1	ORPHA:96334
HP:0002056	Abnormality of the glabella	55384	MEG3	ORPHA:96334
HP:0002056	Abnormality of the glabella	2200	FBN1	OMIM:608328
HP:0002057	Prominent glabella	55252	ASXL2	OMIM:617190
HP:0002057	Prominent glabella	8367	H4C5	OMIM:619950
HP:0002057	Prominent glabella	112858	TP53RK	OMIM:617730
HP:0002057	Prominent glabella	92255	LMBRD2	OMIM:619694
HP:0002057	Prominent glabella	340419	RSPO2	OMIM:618022
HP:0002057	Prominent glabella	54517	PUS7	OMIM:618342
HP:0002057	Prominent glabella	6711	SPTBN1	OMIM:619475
HP:0002057	Prominent glabella	51594	NBAS	OMIM:614800
HP:0002057	Prominent glabella	8092	ALX1	OMIM:613456
HP:0002057	Prominent glabella	8405	SPOP	OMIM:618828
HP:0002057	Prominent glabella	8813	DPM1	ORPHA:79322
HP:0002057	Prominent glabella	4763	NF1	ORPHA:363700
HP:0002057	Prominent glabella	55617	TASP1	OMIM:618950
HP:0002057	Prominent glabella	29998	BICRA	OMIM:619325
HP:0002057	Prominent glabella	55656	INTS8	OMIM:618572
HP:0002057	Prominent glabella	79639	TMEM53	OMIM:619727
HP:0002057	Prominent glabella	53834	FGFRL1	OMIM:194190
HP:0002057	Prominent glabella	1487	CTBP1	OMIM:194190
HP:0002057	Prominent glabella	3954	LETM1	OMIM:194190
HP:0002057	Prominent glabella	7468	NSD2	OMIM:194190
HP:0002057	Prominent glabella	10815	CPLX1	OMIM:194190
HP:0002057	Prominent glabella	388015	RTL1	ORPHA:96334
HP:0002057	Prominent glabella	8788	DLK1	ORPHA:96334
HP:0002057	Prominent glabella	55384	MEG3	ORPHA:96334
HP:0002058	Myopathic facies	6535	SLC6A8	OMIM:300352
HP:0002058	Myopathic facies	253738	EBF3	OMIM:617330
HP:0002058	Myopathic facies	23312	DMXL2	OMIM:618663
HP:0002058	Myopathic facies	30000	TNPO2	OMIM:619556
HP:0002058	Myopathic facies	4625	MYH7	ORPHA:437572
HP:0002058	Myopathic facies	4625	MYH7	OMIM:255160
HP:0002058	Myopathic facies	29925	GMPPB	OMIM:615351
HP:0002058	Myopathic facies	79912	PYROXD1	OMIM:617258
HP:0002058	Myopathic facies	8818	DPM2	ORPHA:329178
HP:0002058	Myopathic facies	8818	DPM2	OMIM:615042
HP:0002058	Myopathic facies	3211	HOXB1	OMIM:614744
HP:0002058	Myopathic facies	4703	NEB	OMIM:256030
HP:0002058	Myopathic facies	4703	NEB	ORPHA:171433
HP:0002058	Myopathic facies	58	ACTA1	OMIM:161800
HP:0002058	Myopathic facies	58	ACTA1	ORPHA:171433
HP:0002058	Myopathic facies	58	ACTA1	ORPHA:2020
HP:0002058	Myopathic facies	246329	STAC3	ORPHA:168572
HP:0002058	Myopathic facies	246329	STAC3	OMIM:255995
HP:0002058	Myopathic facies	5293	PIK3CD	ORPHA:221139
HP:0002058	Myopathic facies	90417	KNSTRN	ORPHA:221139
HP:0002058	Myopathic facies	10324	KLHL41	ORPHA:171433
HP:0002058	Myopathic facies	7170	TPM3	ORPHA:171433
HP:0002058	Myopathic facies	7170	TPM3	ORPHA:2020
HP:0002058	Myopathic facies	6536	SLC6A9	OMIM:617301
HP:0002058	Myopathic facies	63895	PIEZO2	OMIM:617146
HP:0002058	Myopathic facies	84340	GFM2	OMIM:618397
HP:0002058	Myopathic facies	84340	GFM2	ORPHA:565624
HP:0002058	Myopathic facies	6901	TAFAZZIN	OMIM:302060
HP:0002058	Myopathic facies	51244	CCDC174	OMIM:616816
HP:0002058	Myopathic facies	3908	LAMA2	ORPHA:258
HP:0002058	Myopathic facies	3756	KCNH1	ORPHA:420561
HP:0002058	Myopathic facies	3756	KCNH1	OMIM:611816
HP:0002058	Myopathic facies	84679	SLC9A7	OMIM:301024
HP:0002058	Myopathic facies	51651	PTRH2	OMIM:616263
HP:0002058	Myopathic facies	6843	VAMP1	OMIM:618323
HP:0002058	Myopathic facies	55154	MSTO1	OMIM:617675
HP:0002058	Myopathic facies	6261	RYR1	OMIM:255320
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:98905
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:324581
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:424107
HP:0002058	Myopathic facies	6261	RYR1	OMIM:619542
HP:0002058	Myopathic facies	7169	TPM2	OMIM:609285
HP:0002058	Myopathic facies	7169	TPM2	ORPHA:2020
HP:0002058	Myopathic facies	2733	GLE1	OMIM:611890
HP:0002058	Myopathic facies	64919	BCL11B	OMIM:617237
HP:0002058	Myopathic facies	64919	BCL11B	OMIM:618092
HP:0002058	Myopathic facies	7317	UBA1	ORPHA:1145
HP:0002058	Myopathic facies	7317	UBA1	OMIM:301830
HP:0002058	Myopathic facies	55681	SCYL2	ORPHA:1143
HP:0002058	Myopathic facies	84570	COL25A1	ORPHA:1143
HP:0002058	Myopathic facies	57222	ERGIC1	ORPHA:1143
HP:0002058	Myopathic facies	29967	LRP12	OMIM:164310
HP:0002058	Myopathic facies	9570	GOSR2	OMIM:620166
HP:0002058	Myopathic facies	57731	SPTBN4	OMIM:617519
HP:0002058	Myopathic facies	4620	MYH2	OMIM:605637
HP:0002058	Myopathic facies	6567	SLC16A2	ORPHA:59
HP:0002058	Myopathic facies	10087	CERT1	OMIM:616351
HP:0002058	Myopathic facies	57190	SELENON	ORPHA:2020
HP:0002058	Myopathic facies	4633	MYL2	ORPHA:2020
HP:0002058	Myopathic facies	3679	ITGA7	ORPHA:2020
HP:0002058	Myopathic facies	9200	HACD1	ORPHA:2020
HP:0002058	Myopathic facies	51776	MAP3K20	ORPHA:2020
HP:0002058	Myopathic facies	27072	VPS41	OMIM:619389
HP:0002058	Myopathic facies	5813	PURA	ORPHA:438216
HP:0002058	Myopathic facies	5813	PURA	OMIM:616158
HP:0002058	Myopathic facies	4632	MYL1	OMIM:618414
HP:0002058	Myopathic facies	128989	TANGO2	OMIM:616878
HP:0002058	Myopathic facies	6443	SGCB	ORPHA:119
HP:0002058	Myopathic facies	113278	SLC52A3	OMIM:211530
HP:0002058	Myopathic facies	10755	GIPC1	ORPHA:98897
HP:0002058	Myopathic facies	100996717	NOTCH2NLC	ORPHA:98897
HP:0002059	Cerebral atrophy	5274	SERPINI1	OMIM:604218
HP:0002059	Cerebral atrophy	10749	KIF1C	ORPHA:397946
HP:0002059	Cerebral atrophy	10749	KIF1C	OMIM:611302
HP:0002059	Cerebral atrophy	4702	NDUFA8	OMIM:619272
HP:0002059	Cerebral atrophy	3064	HTT	ORPHA:399
HP:0002059	Cerebral atrophy	3064	HTT	OMIM:617435
HP:0002059	Cerebral atrophy	6515	SLC2A3	ORPHA:399
HP:0002059	Cerebral atrophy	27183	VPS4A	OMIM:619273
HP:0002059	Cerebral atrophy	1497	CTNS	OMIM:219800
HP:0002059	Cerebral atrophy	10134	BCAP31	OMIM:300475
HP:0002059	Cerebral atrophy	158	ADSL	OMIM:103050
HP:0002059	Cerebral atrophy	23394	ADNP	ORPHA:404448
HP:0002059	Cerebral atrophy	199857	ALG14	OMIM:619036
HP:0002059	Cerebral atrophy	10617	STAMBP	OMIM:614261
HP:0002059	Cerebral atrophy	26235	FBXL4	OMIM:615471
HP:0002059	Cerebral atrophy	1183	CLCN4	OMIM:300114
HP:0002059	Cerebral atrophy	51102	MECR	ORPHA:508093
HP:0002059	Cerebral atrophy	5723	PSPH	OMIM:614023
HP:0002059	Cerebral atrophy	5393	EXOSC9	OMIM:618065
HP:0002059	Cerebral atrophy	2775	GNAO1	OMIM:615473
HP:0002059	Cerebral atrophy	2775	GNAO1	OMIM:617493
HP:0002059	Cerebral atrophy	51569	UFM1	OMIM:617899
HP:0002059	Cerebral atrophy	6873	TAF2	OMIM:615599
HP:0002059	Cerebral atrophy	6873	TAF2	ORPHA:397951
HP:0002059	Cerebral atrophy	10059	DNM1L	OMIM:614388
HP:0002059	Cerebral atrophy	60684	TRAPPC11	OMIM:615356
HP:0002059	Cerebral atrophy	60684	TRAPPC11	ORPHA:369847
HP:0002059	Cerebral atrophy	7355	SLC35A2	ORPHA:356961
HP:0002059	Cerebral atrophy	7355	SLC35A2	OMIM:300896
HP:0002059	Cerebral atrophy	1593	CYP27A1	OMIM:213700
HP:0002059	Cerebral atrophy	81857	MED25	OMIM:616449
HP:0002059	Cerebral atrophy	81857	MED25	ORPHA:464738
HP:0002059	Cerebral atrophy	347734	SLC35B2	OMIM:620269
HP:0002059	Cerebral atrophy	2720	GLB1	OMIM:230600
HP:0002059	Cerebral atrophy	10466	COG5	OMIM:613612
HP:0002059	Cerebral atrophy	1786	DNMT1	ORPHA:314404
HP:0002059	Cerebral atrophy	1786	DNMT1	OMIM:614116
HP:0002059	Cerebral atrophy	84942	WDR73	OMIM:251300
HP:0002059	Cerebral atrophy	10667	FARS2	OMIM:614946
HP:0002059	Cerebral atrophy	80222	TARS2	OMIM:615918
HP:0002059	Cerebral atrophy	64324	NSD1	ORPHA:821
HP:0002059	Cerebral atrophy	29072	SETD2	ORPHA:821
HP:0002059	Cerebral atrophy	10297	APC2	ORPHA:821
HP:0002059	Cerebral atrophy	154881	KCTD7	ORPHA:263516
HP:0002059	Cerebral atrophy	154881	KCTD7	OMIM:611726
HP:0002059	Cerebral atrophy	4552	MTRR	OMIM:236270
HP:0002059	Cerebral atrophy	4784	NFIX	ORPHA:447980
HP:0002059	Cerebral atrophy	4784	NFIX	OMIM:602535
HP:0002059	Cerebral atrophy	57165	GJC2	OMIM:608804
HP:0002059	Cerebral atrophy	3074	HEXB	ORPHA:309162
HP:0002059	Cerebral atrophy	162	AP1B1	OMIM:242150
HP:0002059	Cerebral atrophy	51741	WWOX	OMIM:616211
HP:0002059	Cerebral atrophy	51741	WWOX	ORPHA:442835
HP:0002059	Cerebral atrophy	9442	MED27	OMIM:619286
HP:0002059	Cerebral atrophy	477	ATP1A2	OMIM:619605
HP:0002059	Cerebral atrophy	477	ATP1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	101060691	NUTM2B-AS1	OMIM:618637
HP:0002059	Cerebral atrophy	1841	DTYMK	OMIM:619847
HP:0002059	Cerebral atrophy	375387	NRROS	OMIM:618875
HP:0002059	Cerebral atrophy	54982	CLN6	OMIM:204300
HP:0002059	Cerebral atrophy	80055	PGAP1	OMIM:615802
HP:0002059	Cerebral atrophy	16	AARS1	OMIM:616339
HP:0002059	Cerebral atrophy	16	AARS1	ORPHA:442835
HP:0002059	Cerebral atrophy	5610	EIF2AK2	OMIM:618877
HP:0002059	Cerebral atrophy	54476	RNF216	OMIM:212840
HP:0002059	Cerebral atrophy	26580	BSCL2	OMIM:615924
HP:0002059	Cerebral atrophy	26580	BSCL2	ORPHA:363400
HP:0002059	Cerebral atrophy	55768	NGLY1	ORPHA:404454
HP:0002059	Cerebral atrophy	1161	ERCC8	OMIM:216400
HP:0002059	Cerebral atrophy	26153	KIF26A	OMIM:620156
HP:0002059	Cerebral atrophy	9382	COG1	OMIM:611209
HP:0002059	Cerebral atrophy	79693	YRDC	OMIM:619609
HP:0002059	Cerebral atrophy	51324	SPG21	OMIM:248900
HP:0002059	Cerebral atrophy	23250	ATP11A	OMIM:619851
HP:0002059	Cerebral atrophy	7345	UCHL1	OMIM:615491
HP:0002059	Cerebral atrophy	5105	PCK1	OMIM:261680
HP:0002059	Cerebral atrophy	64207	IRF2BPL	OMIM:618088
HP:0002059	Cerebral atrophy	7343	UBTF	OMIM:617672
HP:0002059	Cerebral atrophy	7343	UBTF	ORPHA:500180
HP:0002059	Cerebral atrophy	55037	PTCD3	OMIM:619057
HP:0002059	Cerebral atrophy	91869	RFT1	ORPHA:244310
HP:0002059	Cerebral atrophy	91869	RFT1	OMIM:612015
HP:0002059	Cerebral atrophy	7084	TK2	OMIM:609560
HP:0002059	Cerebral atrophy	7084	TK2	ORPHA:254886
HP:0002059	Cerebral atrophy	55157	DARS2	ORPHA:137898
HP:0002059	Cerebral atrophy	2055	CLN8	OMIM:610003
HP:0002059	Cerebral atrophy	2055	CLN8	ORPHA:1947
HP:0002059	Cerebral atrophy	2055	CLN8	OMIM:600143
HP:0002059	Cerebral atrophy	93627	TBCK	OMIM:616900
HP:0002059	Cerebral atrophy	2260	FGFR1	ORPHA:2396
HP:0002059	Cerebral atrophy	3845	KRAS	ORPHA:2396
HP:0002059	Cerebral atrophy	114034	TOE1	OMIM:614969
HP:0002059	Cerebral atrophy	1509	CTSD	OMIM:610127
HP:0002059	Cerebral atrophy	2074	ERCC6	OMIM:278800
HP:0002059	Cerebral atrophy	2074	ERCC6	OMIM:133540
HP:0002059	Cerebral atrophy	7841	MOGS	OMIM:606056
HP:0002059	Cerebral atrophy	8772	FADD	OMIM:613759
HP:0002059	Cerebral atrophy	8772	FADD	ORPHA:306550
HP:0002059	Cerebral atrophy	54675	CRLS1	OMIM:620167
HP:0002059	Cerebral atrophy	1716	DGUOK	OMIM:251880
HP:0002059	Cerebral atrophy	5095	PCCA	OMIM:606054
HP:0002059	Cerebral atrophy	5096	PCCB	OMIM:606054
HP:0002059	Cerebral atrophy	8802	SUCLG1	OMIM:245400
HP:0002059	Cerebral atrophy	8802	SUCLG1	ORPHA:17
HP:0002059	Cerebral atrophy	57531	HACE1	ORPHA:464282
HP:0002059	Cerebral atrophy	57531	HACE1	OMIM:616756
HP:0002059	Cerebral atrophy	7466	WFS1	OMIM:222300
HP:0002059	Cerebral atrophy	1327	COX4I1	OMIM:619060
HP:0002059	Cerebral atrophy	833	CARS1	OMIM:618891
HP:0002059	Cerebral atrophy	5833	PCYT2	OMIM:618770
HP:0002059	Cerebral atrophy	57178	ZMIZ1	OMIM:618659
HP:0002059	Cerebral atrophy	55775	TDP1	OMIM:607250
HP:0002059	Cerebral atrophy	10352	WARS2	ORPHA:572798
HP:0002059	Cerebral atrophy	10352	WARS2	OMIM:617710
HP:0002059	Cerebral atrophy	1201	CLN3	OMIM:204200
HP:0002059	Cerebral atrophy	4338	MOCS2	OMIM:252160
HP:0002059	Cerebral atrophy	4598	MVK	OMIM:610377
HP:0002059	Cerebral atrophy	3737	KCNA2	ORPHA:442835
HP:0002059	Cerebral atrophy	1759	DNM1	ORPHA:442835
HP:0002059	Cerebral atrophy	8120	AP3B2	ORPHA:442835
HP:0002059	Cerebral atrophy	8120	AP3B2	OMIM:617276
HP:0002059	Cerebral atrophy	523	ATP6V1A	ORPHA:442835
HP:0002059	Cerebral atrophy	523	ATP6V1A	OMIM:618012
HP:0002059	Cerebral atrophy	10991	SLC38A3	ORPHA:442835
HP:0002059	Cerebral atrophy	51343	FZR1	ORPHA:442835
HP:0002059	Cerebral atrophy	22906	TRAK1	ORPHA:442835
HP:0002059	Cerebral atrophy	2566	GABRG2	ORPHA:442835
HP:0002059	Cerebral atrophy	1917	EEF1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	1917	EEF1A2	OMIM:616393
HP:0002059	Cerebral atrophy	2561	GABRB2	ORPHA:442835
HP:0002059	Cerebral atrophy	8831	SYNGAP1	ORPHA:442835
HP:0002059	Cerebral atrophy	7532	YWHAG	ORPHA:442835
HP:0002059	Cerebral atrophy	79876	UBA5	ORPHA:442835
HP:0002059	Cerebral atrophy	79876	UBA5	OMIM:617132
HP:0002059	Cerebral atrophy	6328	SCN3A	ORPHA:442835
HP:0002059	Cerebral atrophy	2558	GABRA5	ORPHA:442835
HP:0002059	Cerebral atrophy	781	CACNA2D1	ORPHA:442835
HP:0002059	Cerebral atrophy	2906	GRIN2D	ORPHA:442835
HP:0002059	Cerebral atrophy	2906	GRIN2D	OMIM:617162
HP:0002059	Cerebral atrophy	116150	NUS1	ORPHA:442835
HP:0002059	Cerebral atrophy	10659	CELF2	ORPHA:442835
HP:0002059	Cerebral atrophy	774	CACNA1B	ORPHA:442835
HP:0002059	Cerebral atrophy	774	CACNA1B	OMIM:618497
HP:0002059	Cerebral atrophy	1213	CLTC	ORPHA:442835
HP:0002059	Cerebral atrophy	23334	SZT2	ORPHA:442835
HP:0002059	Cerebral atrophy	51412	ACTL6B	ORPHA:442835
HP:0002059	Cerebral atrophy	51412	ACTL6B	OMIM:618468
HP:0002059	Cerebral atrophy	348980	HCN1	ORPHA:442835
HP:0002059	Cerebral atrophy	6506	SLC1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	6506	SLC1A2	OMIM:617105
HP:0002059	Cerebral atrophy	8867	SYNJ1	ORPHA:442835
HP:0002059	Cerebral atrophy	2258	FGF13	ORPHA:442835
HP:0002059	Cerebral atrophy	2258	FGF13	OMIM:301058
HP:0002059	Cerebral atrophy	3745	KCNB1	ORPHA:442835
HP:0002059	Cerebral atrophy	284111	SLC13A5	ORPHA:442835
HP:0002059	Cerebral atrophy	25977	NECAP1	ORPHA:442835
HP:0002059	Cerebral atrophy	6334	SCN8A	ORPHA:442835
HP:0002059	Cerebral atrophy	6334	SCN8A	OMIM:614558
HP:0002059	Cerebral atrophy	22866	CNKSR2	ORPHA:442835
HP:0002059	Cerebral atrophy	9568	GABBR2	ORPHA:442835
HP:0002059	Cerebral atrophy	2555	GABRA2	ORPHA:442835
HP:0002059	Cerebral atrophy	55152	DALRD3	ORPHA:442835
HP:0002059	Cerebral atrophy	773	CACNA1A	ORPHA:442835
HP:0002059	Cerebral atrophy	26999	CYFIP2	ORPHA:442835
HP:0002059	Cerebral atrophy	26999	CYFIP2	OMIM:618008
HP:0002059	Cerebral atrophy	4915	NTRK2	ORPHA:442835
HP:0002059	Cerebral atrophy	25973	PARS2	ORPHA:442835
HP:0002059	Cerebral atrophy	23097	CDK19	ORPHA:442835
HP:0002059	Cerebral atrophy	23097	CDK19	OMIM:618916
HP:0002059	Cerebral atrophy	64801	ARV1	ORPHA:442835
HP:0002059	Cerebral atrophy	79947	DHDDS	ORPHA:442835
HP:0002059	Cerebral atrophy	2257	FGF12	ORPHA:442835
HP:0002059	Cerebral atrophy	5530	PPP3CA	ORPHA:442835
HP:0002059	Cerebral atrophy	5530	PPP3CA	OMIM:617711
HP:0002059	Cerebral atrophy	478	ATP1A3	ORPHA:442835
HP:0002059	Cerebral atrophy	54872	PIGG	OMIM:616917
HP:0002059	Cerebral atrophy	26040	SETBP1	OMIM:269150
HP:0002059	Cerebral atrophy	3265	HRAS	OMIM:218040
HP:0002059	Cerebral atrophy	5826	ABCD4	OMIM:614857
HP:0002059	Cerebral atrophy	9895	TECPR2	OMIM:615031
HP:0002059	Cerebral atrophy	9895	TECPR2	ORPHA:320385
HP:0002059	Cerebral atrophy	51604	PIGT	OMIM:615398
HP:0002059	Cerebral atrophy	84504	NKX6-2	ORPHA:527497
HP:0002059	Cerebral atrophy	23126	POGZ	OMIM:616364
HP:0002059	Cerebral atrophy	56006	SMG9	OMIM:616920
HP:0002059	Cerebral atrophy	54902	TTC19	OMIM:615157
HP:0002059	Cerebral atrophy	92609	TIMM50	OMIM:617698
HP:0002059	Cerebral atrophy	92609	TIMM50	ORPHA:505216
HP:0002059	Cerebral atrophy	51692	CPSF3	OMIM:619876
HP:0002059	Cerebral atrophy	285175	UNC80	OMIM:616801
HP:0002059	Cerebral atrophy	8021	NUP214	OMIM:618426
HP:0002059	Cerebral atrophy	90624	LYRM7	OMIM:615838
HP:0002059	Cerebral atrophy	10056	FARSB	OMIM:613658
HP:0002059	Cerebral atrophy	5428	POLG	OMIM:203700
HP:0002059	Cerebral atrophy	5428	POLG	ORPHA:254886
HP:0002059	Cerebral atrophy	79751	SLC25A22	OMIM:609304
HP:0002059	Cerebral atrophy	285362	SUMF1	OMIM:272200
HP:0002059	Cerebral atrophy	56052	ALG1	ORPHA:79327
HP:0002059	Cerebral atrophy	56052	ALG1	OMIM:608540
HP:0002059	Cerebral atrophy	79796	ALG9	ORPHA:79328
HP:0002059	Cerebral atrophy	5521	PPP2R2B	ORPHA:98762
HP:0002059	Cerebral atrophy	54828	BCAS3	OMIM:619641
HP:0002059	Cerebral atrophy	253959	RALGAPA1	OMIM:618797
HP:0002059	Cerebral atrophy	8481	OFD1	OMIM:311200
HP:0002059	Cerebral atrophy	64135	IFIH1	OMIM:615846
HP:0002059	Cerebral atrophy	10531	PITRM1	OMIM:619405
HP:0002059	Cerebral atrophy	256471	MFSD8	OMIM:610951
HP:0002059	Cerebral atrophy	23065	EMC1	ORPHA:480898
HP:0002059	Cerebral atrophy	23065	EMC1	OMIM:616875
HP:0002059	Cerebral atrophy	55343	SLC35C1	ORPHA:99843
HP:0002059	Cerebral atrophy	2271	FH	OMIM:606812
HP:0002059	Cerebral atrophy	23556	PIGN	OMIM:614080
HP:0002059	Cerebral atrophy	11152	WDR45	OMIM:300894
HP:0002059	Cerebral atrophy	11152	WDR45	ORPHA:329284
HP:0002059	Cerebral atrophy	22880	MORC2	OMIM:619090
HP:0002059	Cerebral atrophy	55739	NAXD	OMIM:618321
HP:0002059	Cerebral atrophy	23162	MAPK8IP3	OMIM:618443
HP:0002059	Cerebral atrophy	5917	RARS1	OMIM:616140
HP:0002059	Cerebral atrophy	259232	NALCN	OMIM:616266
HP:0002059	Cerebral atrophy	339855	KY	ORPHA:496689
HP:0002059	Cerebral atrophy	55275	VPS53	OMIM:615851
HP:0002059	Cerebral atrophy	3785	KCNQ2	ORPHA:439218
HP:0002059	Cerebral atrophy	29960	MRM2	OMIM:618567
HP:0002059	Cerebral atrophy	23219	FBXO28	OMIM:619777
HP:0002059	Cerebral atrophy	5824	PEX19	OMIM:614886
HP:0002059	Cerebral atrophy	23189	KANK1	OMIM:612900
HP:0002059	Cerebral atrophy	57704	GBA2	OMIM:614409
HP:0002059	Cerebral atrophy	57704	GBA2	ORPHA:352641
HP:0002059	Cerebral atrophy	57704	GBA2	ORPHA:320391
HP:0002059	Cerebral atrophy	85021	REPS1	OMIM:617916
HP:0002059	Cerebral atrophy	8813	DPM1	ORPHA:79322
HP:0002059	Cerebral atrophy	6314	ATXN7	ORPHA:94147
HP:0002059	Cerebral atrophy	28962	OSTM1	OMIM:259720
HP:0002059	Cerebral atrophy	28962	OSTM1	ORPHA:85179
HP:0002059	Cerebral atrophy	10195	ALG3	OMIM:601110
HP:0002059	Cerebral atrophy	26100	WIPI2	OMIM:618453
HP:0002059	Cerebral atrophy	10533	ATG7	OMIM:619422
HP:0002059	Cerebral atrophy	10159	ATP6AP2	OMIM:300423
HP:0002059	Cerebral atrophy	7040	TGFB1	OMIM:618213
HP:0002059	Cerebral atrophy	81570	CLPB	OMIM:616271
HP:0002059	Cerebral atrophy	81570	CLPB	ORPHA:445038
HP:0002059	Cerebral atrophy	133686	NADK2	OMIM:616034
HP:0002059	Cerebral atrophy	51693	TRAPPC2L	OMIM:618331
HP:0002059	Cerebral atrophy	84188	FAR1	OMIM:616154
HP:0002059	Cerebral atrophy	57017	COQ9	OMIM:614654
HP:0002059	Cerebral atrophy	27429	HTRA2	OMIM:617248
HP:0002059	Cerebral atrophy	22907	DHX30	OMIM:617804
HP:0002059	Cerebral atrophy	58497	PRUNE1	ORPHA:544469
HP:0002059	Cerebral atrophy	51013	EXOSC1	OMIM:619304
HP:0002059	Cerebral atrophy	7407	VARS1	OMIM:617802
HP:0002059	Cerebral atrophy	8260	NAA10	ORPHA:276432
HP:0002059	Cerebral atrophy	8260	NAA10	OMIM:300855
HP:0002059	Cerebral atrophy	26123	TCTN3	OMIM:258860
HP:0002059	Cerebral atrophy	10075	HUWE1	OMIM:309590
HP:0002059	Cerebral atrophy	6309	SC5D	OMIM:607330
HP:0002059	Cerebral atrophy	6323	SCN1A	OMIM:607208
HP:0002059	Cerebral atrophy	91949	COG7	OMIM:608779
HP:0002059	Cerebral atrophy	4137	MAPT	OMIM:601104
HP:0002059	Cerebral atrophy	9759	HDAC4	OMIM:619797
HP:0002059	Cerebral atrophy	79621	RNASEH2B	OMIM:610181
HP:0002059	Cerebral atrophy	23516	SLC39A14	OMIM:617013
HP:0002059	Cerebral atrophy	23516	SLC39A14	ORPHA:521406
HP:0002059	Cerebral atrophy	8506	CNTNAP1	OMIM:616286
HP:0002059	Cerebral atrophy	7167	TPI1	OMIM:615512
HP:0002059	Cerebral atrophy	64116	SLC39A8	OMIM:616721
HP:0002059	Cerebral atrophy	132	ADK	OMIM:614300
HP:0002059	Cerebral atrophy	6513	SLC2A1	OMIM:612126
HP:0002059	Cerebral atrophy	53616	ADAM22	OMIM:617933
HP:0002059	Cerebral atrophy	9526	MPDU1	OMIM:609180
HP:0002059	Cerebral atrophy	546	ATRX	OMIM:301040
HP:0002059	Cerebral atrophy	4838	NODAL	OMIM:270100
HP:0002059	Cerebral atrophy	8050	PDHX	ORPHA:255182
HP:0002059	Cerebral atrophy	128869	PIGU	OMIM:618590
HP:0002059	Cerebral atrophy	10733	PLK4	OMIM:616171
HP:0002059	Cerebral atrophy	9150	CTDP1	OMIM:604168
HP:0002059	Cerebral atrophy	9131	AIFM1	ORPHA:83629
HP:0002059	Cerebral atrophy	57465	TBC1D24	OMIM:220500
HP:0002059	Cerebral atrophy	57465	TBC1D24	OMIM:615338
HP:0002059	Cerebral atrophy	11277	TREX1	OMIM:225750
HP:0002059	Cerebral atrophy	4695	NDUFA2	OMIM:618235
HP:0002059	Cerebral atrophy	79868	ALG13	OMIM:300884
HP:0002059	Cerebral atrophy	5859	QARS1	OMIM:615760
HP:0002059	Cerebral atrophy	57520	HECW2	OMIM:617268
HP:0002059	Cerebral atrophy	5160	PDHA1	OMIM:312170
HP:0002059	Cerebral atrophy	5160	PDHA1	ORPHA:79243
HP:0002059	Cerebral atrophy	1806	DPYD	OMIM:274270
HP:0002059	Cerebral atrophy	1806	DPYD	ORPHA:1675
HP:0002059	Cerebral atrophy	112939	NACC1	ORPHA:500545
HP:0002059	Cerebral atrophy	112939	NACC1	OMIM:617393
HP:0002059	Cerebral atrophy	51010	EXOSC3	OMIM:614678
HP:0002059	Cerebral atrophy	54822	TRPM7	OMIM:105500
HP:0002059	Cerebral atrophy	1760	DMPK	OMIM:160900
HP:0002059	Cerebral atrophy	2891	GRIA2	OMIM:618917
HP:0002059	Cerebral atrophy	5934	RBL2	OMIM:619690
HP:0002059	Cerebral atrophy	79709	COLGALT1	OMIM:618360
HP:0002059	Cerebral atrophy	5071	PRKN	OMIM:600116
HP:0002059	Cerebral atrophy	84340	GFM2	ORPHA:565624
HP:0002059	Cerebral atrophy	84340	GFM2	OMIM:618397
HP:0002059	Cerebral atrophy	63925	ZNF335	OMIM:615095
HP:0002059	Cerebral atrophy	22930	RAB3GAP1	OMIM:600118
HP:0002059	Cerebral atrophy	4704	NDUFA9	OMIM:618247
HP:0002059	Cerebral atrophy	55906	ZC4H2	OMIM:314580
HP:0002059	Cerebral atrophy	23732	FRRS1L	OMIM:616981
HP:0002059	Cerebral atrophy	79641	ROGDI	OMIM:226750
HP:0002059	Cerebral atrophy	6601	SMARCC2	OMIM:618362
HP:0002059	Cerebral atrophy	6709	SPTAN1	OMIM:613477
HP:0002059	Cerebral atrophy	2058	EPRS1	OMIM:617951
HP:0002059	Cerebral atrophy	7965	AIMP2	OMIM:618006
HP:0002059	Cerebral atrophy	80746	TSEN2	OMIM:612389
HP:0002059	Cerebral atrophy	2917	GRM7	OMIM:618922
HP:0002059	Cerebral atrophy	29940	DSE	OMIM:615539
HP:0002059	Cerebral atrophy	9361	LONP1	ORPHA:79243
HP:0002059	Cerebral atrophy	549	AUH	OMIM:250950
HP:0002059	Cerebral atrophy	56652	TWNK	OMIM:609286
HP:0002059	Cerebral atrophy	6821	SUOX	OMIM:272300
HP:0002059	Cerebral atrophy	1781	DYNC1I2	OMIM:618492
HP:0002059	Cerebral atrophy	5422	POLA1	OMIM:301030
HP:0002059	Cerebral atrophy	5611	DNAJC3	OMIM:616192
HP:0002059	Cerebral atrophy	5611	DNAJC3	ORPHA:445062
HP:0002059	Cerebral atrophy	127833	SYT2	OMIM:619461
HP:0002059	Cerebral atrophy	4714	NDUFB8	OMIM:618252
HP:0002059	Cerebral atrophy	1822	ATN1	OMIM:618494
HP:0002059	Cerebral atrophy	4761	NEUROD2	OMIM:618374
HP:0002059	Cerebral atrophy	84896	ATAD1	OMIM:618011
HP:0002059	Cerebral atrophy	57511	COG6	OMIM:614576
HP:0002059	Cerebral atrophy	175	AGA	OMIM:208400
HP:0002059	Cerebral atrophy	25839	COG4	OMIM:613489
HP:0002059	Cerebral atrophy	128989	TANGO2	OMIM:616878
HP:0002059	Cerebral atrophy	55644	OSGEP	OMIM:617729
HP:0002059	Cerebral atrophy	57572	DOCK6	OMIM:614219
HP:0002059	Cerebral atrophy	220296	HEPACAM	OMIM:613925
HP:0002059	Cerebral atrophy	4548	MTR	OMIM:250940
HP:0002059	Cerebral atrophy	2313	FLI1	ORPHA:2308
HP:0002059	Cerebral atrophy	3028	HSD17B10	ORPHA:391428
HP:0002059	Cerebral atrophy	9997	SCO2	OMIM:604377
HP:0002059	Cerebral atrophy	83480	PUS3	OMIM:617051
HP:0002059	Cerebral atrophy	8943	AP3D1	OMIM:617050
HP:0002059	Cerebral atrophy	80347	COASY	OMIM:618266
HP:0002059	Cerebral atrophy	57498	KIDINS220	OMIM:617296
HP:0002059	Cerebral atrophy	3975	LHX1	ORPHA:261265
HP:0002059	Cerebral atrophy	6928	HNF1B	ORPHA:261265
HP:0002059	Cerebral atrophy	57003	CCDC47	OMIM:618268
HP:0002059	Cerebral atrophy	51095	TRNT1	OMIM:616084
HP:0002059	Cerebral atrophy	112858	TP53RK	OMIM:617730
HP:0002059	Cerebral atrophy	11019	LIAS	OMIM:614462
HP:0002059	Cerebral atrophy	8270	LAGE3	OMIM:301006
HP:0002059	Cerebral atrophy	6812	STXBP1	OMIM:612164
HP:0002059	Cerebral atrophy	94005	PIGS	OMIM:618143
HP:0002059	Cerebral atrophy	145173	B3GLCT	OMIM:261540
HP:0002059	Cerebral atrophy	57468	SLC12A5	OMIM:616645
HP:0002059	Cerebral atrophy	2517	FUCA1	OMIM:230000
HP:0002059	Cerebral atrophy	4337	MOCS1	OMIM:252150
HP:0002059	Cerebral atrophy	23040	MYT1L	OMIM:616521
HP:0002059	Cerebral atrophy	3704	ITPA	OMIM:616647
HP:0002059	Cerebral atrophy	51091	SEPSECS	OMIM:613811
HP:0002059	Cerebral atrophy	25914	RTTN	ORPHA:468631
HP:0002059	Cerebral atrophy	203228	C9orf72	OMIM:105550
HP:0002059	Cerebral atrophy	80781	COL18A1	OMIM:267750
HP:0002059	Cerebral atrophy	2571	GAD1	OMIM:619124
HP:0002059	Cerebral atrophy	100147744	RNU7-1	OMIM:619487
HP:0002059	Cerebral atrophy	90522	YIF1B	OMIM:619125
HP:0002059	Cerebral atrophy	2760	GM2A	ORPHA:309246
HP:0002059	Cerebral atrophy	2760	GM2A	OMIM:272750
HP:0002059	Cerebral atrophy	440138	ALG11	ORPHA:280071
HP:0002059	Cerebral atrophy	51715	RAB23	OMIM:201000
HP:0002059	Cerebral atrophy	91875	TTC5	OMIM:619244
HP:0002059	Cerebral atrophy	134353	LSM11	OMIM:619486
HP:0002059	Cerebral atrophy	1200	TPP1	OMIM:204500
HP:0002059	Cerebral atrophy	57038	RARS2	OMIM:611523
HP:0002059	Cerebral atrophy	6509	SLC1A4	OMIM:616657
HP:0002059	Cerebral atrophy	6663	SOX10	OMIM:609136
HP:0002059	Cerebral atrophy	617	BCS1L	OMIM:124000
HP:0002059	Cerebral atrophy	4094	MAF	OMIM:601088
HP:0002059	Cerebral atrophy	95	ACY1	OMIM:609924
HP:0002059	Cerebral atrophy	10084	PQBP1	OMIM:309500
HP:0002059	Cerebral atrophy	54802	TRIT1	OMIM:617873
HP:0002059	Cerebral atrophy	29920	PYCR2	OMIM:616420
HP:0002059	Cerebral atrophy	84231	TRAF7	OMIM:618164
HP:0002059	Cerebral atrophy	26503	SLC17A5	OMIM:269920
HP:0002059	Cerebral atrophy	9197	SLC33A1	OMIM:614482
HP:0002059	Cerebral atrophy	200205	IBA57	OMIM:615330
HP:0002059	Cerebral atrophy	10274	STAG1	OMIM:617635
HP:0002059	Cerebral atrophy	5538	PPT1	OMIM:256730
HP:0002059	Cerebral atrophy	2733	GLE1	OMIM:611890
HP:0002059	Cerebral atrophy	9487	PIGL	OMIM:280000
HP:0002059	Cerebral atrophy	727676	SNORD118	ORPHA:542310
HP:0002059	Cerebral atrophy	54187	NANS	OMIM:610442
HP:0002059	Cerebral atrophy	2806	GOT2	OMIM:618721
HP:0002059	Cerebral atrophy	25974	MMACHC	ORPHA:79282
HP:0002059	Cerebral atrophy	1719	DHFR	OMIM:613839
HP:0002059	Cerebral atrophy	3778	KCNMA1	OMIM:618729
HP:0002059	Cerebral atrophy	4668	NAGA	OMIM:609242
HP:0002059	Cerebral atrophy	54936	ADPRS	OMIM:618170
HP:0002059	Cerebral atrophy	64802	NMNAT1	OMIM:619260
HP:0002059	Cerebral atrophy	2629	GBA1	OMIM:230900
HP:0002059	Cerebral atrophy	51075	TMX2	OMIM:618730
HP:0002059	Cerebral atrophy	8884	SLC5A6	OMIM:618973
HP:0002059	Cerebral atrophy	7305	TYROBP	OMIM:221770
HP:0002059	Cerebral atrophy	55331	ACER3	OMIM:617762
HP:0002059	Cerebral atrophy	2902	GRIN1	OMIM:614254
HP:0002059	Cerebral atrophy	8803	SUCLA2	OMIM:612073
HP:0002059	Cerebral atrophy	92935	MARS2	OMIM:616430
HP:0002059	Cerebral atrophy	79587	CARS2	OMIM:616672
HP:0002059	Cerebral atrophy	22827	PUF60	OMIM:615583
HP:0002059	Cerebral atrophy	85378	TUBGCP6	OMIM:251270
HP:0002059	Cerebral atrophy	8398	PLA2G6	OMIM:256600
HP:0002059	Cerebral atrophy	8398	PLA2G6	OMIM:610217
HP:0002059	Cerebral atrophy	547	KIF1A	OMIM:614255
HP:0002059	Cerebral atrophy	10535	RNASEH2A	OMIM:610333
HP:0002059	Cerebral atrophy	55753	OGDHL	OMIM:619701
HP:0002059	Cerebral atrophy	22868	FASTKD2	OMIM:618855
HP:0002059	Cerebral atrophy	27445	PCLO	OMIM:608027
HP:0002059	Cerebral atrophy	374654	KIF7	ORPHA:166024
HP:0002059	Cerebral atrophy	25792	CIZ1	ORPHA:420492
HP:0002059	Cerebral atrophy	400916	CHCHD10	OMIM:615911
HP:0002059	Cerebral atrophy	673	BRAF	OMIM:115150
HP:0002059	Cerebral atrophy	673	BRAF	ORPHA:1340
HP:0002059	Cerebral atrophy	54820	NDE1	ORPHA:2177
HP:0002059	Cerebral atrophy	7360	UGP2	OMIM:618744
HP:0002059	Cerebral atrophy	5457	POU4F1	ORPHA:314647
HP:0002059	Cerebral atrophy	23261	CAMTA1	ORPHA:314647
HP:0002059	Cerebral atrophy	23261	CAMTA1	OMIM:614756
HP:0002059	Cerebral atrophy	8496	PPFIBP1	OMIM:620024
HP:0002059	Cerebral atrophy	6687	SPG7	ORPHA:99013
HP:0002059	Cerebral atrophy	6687	SPG7	OMIM:607259
HP:0002059	Cerebral atrophy	54209	TREM2	OMIM:618193
HP:0002059	Cerebral atrophy	54209	TREM2	ORPHA:1020
HP:0002059	Cerebral atrophy	54209	TREM2	ORPHA:2770
HP:0002059	Cerebral atrophy	4125	MAN2B1	ORPHA:309282
HP:0002059	Cerebral atrophy	4125	MAN2B1	ORPHA:309288
HP:0002059	Cerebral atrophy	4125	MAN2B1	OMIM:248500
HP:0002059	Cerebral atrophy	51112	TRAPPC12	ORPHA:500144
HP:0002059	Cerebral atrophy	51112	TRAPPC12	OMIM:617669
HP:0002059	Cerebral atrophy	54968	TMEM70	ORPHA:1194
HP:0002059	Cerebral atrophy	3020	H3-3A	OMIM:619720
HP:0002059	Cerebral atrophy	8722	CTSF	OMIM:615362
HP:0002059	Cerebral atrophy	387787	LIPT2	OMIM:617668
HP:0002059	Cerebral atrophy	84520	GON7	OMIM:619603
HP:0002059	Cerebral atrophy	23431	AP4E1	OMIM:613744
HP:0002059	Cerebral atrophy	23431	AP4E1	ORPHA:280763
HP:0002059	Cerebral atrophy	57582	KCNT1	OMIM:614959
HP:0002059	Cerebral atrophy	10978	CLP1	OMIM:615803
HP:0002059	Cerebral atrophy	79158	GNPTAB	OMIM:252500
HP:0002059	Cerebral atrophy	271	AMPD2	OMIM:615809
HP:0002059	Cerebral atrophy	5189	PEX1	OMIM:214100
HP:0002059	Cerebral atrophy	55650	PIGV	OMIM:239300
HP:0002059	Cerebral atrophy	2192	FBLN1	ORPHA:404451
HP:0002059	Cerebral atrophy	348	APOE	OMIM:607822
HP:0002059	Cerebral atrophy	5663	PSEN1	OMIM:607822
HP:0002059	Cerebral atrophy	5663	PSEN1	ORPHA:1020
HP:0002059	Cerebral atrophy	51360	MBTPS2	ORPHA:2273
HP:0002059	Cerebral atrophy	5832	ALDH18A1	OMIM:616586
HP:0002059	Cerebral atrophy	5832	ALDH18A1	ORPHA:447760
HP:0002059	Cerebral atrophy	9326	ZNHIT3	ORPHA:2836
HP:0002059	Cerebral atrophy	2018	EMX2	OMIM:269160
HP:0002059	Cerebral atrophy	6496	SIX3	OMIM:269160
HP:0002059	Cerebral atrophy	6469	SHH	OMIM:269160
HP:0002059	Cerebral atrophy	5191	PEX7	OMIM:215100
HP:0002059	Cerebral atrophy	2332	FMR1	ORPHA:93256
HP:0002059	Cerebral atrophy	2332	FMR1	ORPHA:908
HP:0002059	Cerebral atrophy	23400	ATP13A2	ORPHA:513436
HP:0002059	Cerebral atrophy	23400	ATP13A2	ORPHA:306674
HP:0002059	Cerebral atrophy	23400	ATP13A2	OMIM:617225
HP:0002059	Cerebral atrophy	652	BMP4	OMIM:607932
HP:0002059	Cerebral atrophy	57231	SNX14	OMIM:616354
HP:0002059	Cerebral atrophy	132158	GLYCTK	OMIM:220120
HP:0002059	Cerebral atrophy	10347	ABCA7	OMIM:608907
HP:0002059	Cerebral atrophy	10347	ABCA7	ORPHA:1020
HP:0002059	Cerebral atrophy	246243	RNASEH1	OMIM:616479
HP:0002059	Cerebral atrophy	51761	ATP8A2	OMIM:615268
HP:0002059	Cerebral atrophy	4582	MUC1	OMIM:174000
HP:0002059	Cerebral atrophy	57338	JPH3	ORPHA:98934
HP:0002059	Cerebral atrophy	57338	JPH3	OMIM:606438
HP:0002059	Cerebral atrophy	23265	EXOC7	OMIM:619072
HP:0002059	Cerebral atrophy	699	BUB1	OMIM:620183
HP:0002059	Cerebral atrophy	1798	DPAGT1	ORPHA:86309
HP:0002059	Cerebral atrophy	55699	IARS2	OMIM:616007
HP:0002059	Cerebral atrophy	6804	STX1A	ORPHA:904
HP:0002059	Cerebral atrophy	7461	CLIP2	ORPHA:904
HP:0002059	Cerebral atrophy	84277	DNAJC30	ORPHA:904
HP:0002059	Cerebral atrophy	8468	FKBP6	ORPHA:904
HP:0002059	Cerebral atrophy	5982	RFC2	ORPHA:904
HP:0002059	Cerebral atrophy	2969	GTF2I	ORPHA:904
HP:0002059	Cerebral atrophy	3984	LIMK1	ORPHA:904
HP:0002059	Cerebral atrophy	9569	GTF2IRD1	ORPHA:904
HP:0002059	Cerebral atrophy	155382	VPS37D	ORPHA:904
HP:0002059	Cerebral atrophy	155368	METTL27	ORPHA:904
HP:0002059	Cerebral atrophy	114049	BUD23	ORPHA:904
HP:0002059	Cerebral atrophy	7458	EIF4H	ORPHA:904
HP:0002059	Cerebral atrophy	84163	GTF2IRD2	ORPHA:904
HP:0002059	Cerebral atrophy	9275	BCL7B	ORPHA:904
HP:0002059	Cerebral atrophy	26608	TBL2	ORPHA:904
HP:0002059	Cerebral atrophy	653361	NCF1	ORPHA:904
HP:0002059	Cerebral atrophy	135886	TMEM270	ORPHA:904
HP:0002059	Cerebral atrophy	51085	MLXIPL	ORPHA:904
HP:0002059	Cerebral atrophy	9031	BAZ1B	ORPHA:904
HP:0002059	Cerebral atrophy	2006	ELN	ORPHA:904
HP:0002059	Cerebral atrophy	11340	EXOSC8	ORPHA:2254
HP:0002059	Cerebral atrophy	11340	EXOSC8	OMIM:616081
HP:0002059	Cerebral atrophy	23287	AGTPBP1	ORPHA:2254
HP:0002059	Cerebral atrophy	7443	VRK1	ORPHA:2254
HP:0002059	Cerebral atrophy	7443	VRK1	OMIM:607596
HP:0002059	Cerebral atrophy	91137	SLC25A46	ORPHA:2254
HP:0002059	Cerebral atrophy	4191	MDH2	OMIM:617339
HP:0002059	Cerebral atrophy	5590	PRKCZ	ORPHA:1606
HP:0002059	Cerebral atrophy	2563	GABRD	ORPHA:1606
HP:0002059	Cerebral atrophy	23013	SPEN	ORPHA:1606
HP:0002059	Cerebral atrophy	8510	MMP23B	ORPHA:1606
HP:0002059	Cerebral atrophy	7798	LUZP1	ORPHA:1606
HP:0002059	Cerebral atrophy	6497	SKI	ORPHA:1606
HP:0002059	Cerebral atrophy	10630	PDPN	ORPHA:1606
HP:0002059	Cerebral atrophy	3339	HSPG2	ORPHA:1606
HP:0002059	Cerebral atrophy	10277	UBE4B	ORPHA:1606
HP:0002059	Cerebral atrophy	8514	KCNAB2	ORPHA:1606
HP:0002059	Cerebral atrophy	473	RERE	ORPHA:1606
HP:0002059	Cerebral atrophy	63976	PRDM16	ORPHA:1606
HP:0002059	Cerebral atrophy	54897	CASZ1	ORPHA:1606
HP:0002059	Cerebral atrophy	493856	CISD2	ORPHA:3463
HP:0002059	Cerebral atrophy	6638	SNRPN	OMIM:105830
HP:0002059	Cerebral atrophy	6638	SNRPN	ORPHA:177907
HP:0002059	Cerebral atrophy	7337	UBE3A	OMIM:105830
HP:0002059	Cerebral atrophy	1859	DYRK1A	ORPHA:464311
HP:0002059	Cerebral atrophy	1859	DYRK1A	ORPHA:268261
HP:0002059	Cerebral atrophy	1859	DYRK1A	OMIM:614104
HP:0002059	Cerebral atrophy	2896	GRN	OMIM:607485
HP:0002059	Cerebral atrophy	11128	POLR3A	ORPHA:447896
HP:0002059	Cerebral atrophy	11128	POLR3A	OMIM:607694
HP:0002059	Cerebral atrophy	8517	IKBKG	ORPHA:464
HP:0002059	Cerebral atrophy	4644	MYO5A	ORPHA:33445
HP:0002059	Cerebral atrophy	51633	OTUD6B	ORPHA:505237
HP:0002059	Cerebral atrophy	5621	PRNP	ORPHA:157941
HP:0002059	Cerebral atrophy	56098	PCDHGC4	OMIM:619880
HP:0002059	Cerebral atrophy	54499	TMCO1	ORPHA:1394
HP:0002059	Cerebral atrophy	9562	MINPP1	OMIM:619527
HP:0002059	Cerebral atrophy	6311	ATXN2	ORPHA:98756
HP:0002059	Cerebral atrophy	8573	CASK	ORPHA:163937
HP:0002059	Cerebral atrophy	54941	RNF125	OMIM:616260
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:1387
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:401830
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0002059	Cerebral atrophy	283989	TSEN54	OMIM:277470
HP:0002059	Cerebral atrophy	5664	PSEN2	ORPHA:1020
HP:0002059	Cerebral atrophy	10452	TOMM40	ORPHA:1020
HP:0002059	Cerebral atrophy	351	APP	ORPHA:1020
HP:0002059	Cerebral atrophy	6653	SORL1	ORPHA:1020
HP:0002059	Cerebral atrophy	404672	GTF2H5	ORPHA:33364
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:33364
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:910
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:1466
HP:0002059	Cerebral atrophy	7737	RNF113A	ORPHA:33364
HP:0002059	Cerebral atrophy	136647	MPLKIP	ORPHA:33364
HP:0002059	Cerebral atrophy	136647	MPLKIP	OMIM:234050
HP:0002059	Cerebral atrophy	6897	TARS1	ORPHA:33364
HP:0002059	Cerebral atrophy	2071	ERCC3	ORPHA:33364
HP:0002059	Cerebral atrophy	2071	ERCC3	ORPHA:910
HP:0002059	Cerebral atrophy	2961	GTF2E2	ORPHA:33364
HP:0002059	Cerebral atrophy	51750	RTEL1	ORPHA:3322
HP:0002059	Cerebral atrophy	65057	ACD	ORPHA:3322
HP:0002059	Cerebral atrophy	5073	PARN	ORPHA:3322
HP:0002059	Cerebral atrophy	7015	TERT	ORPHA:3322
HP:0002059	Cerebral atrophy	26277	TINF2	ORPHA:3322
HP:0002059	Cerebral atrophy	1736	DKC1	ORPHA:3322
HP:0002059	Cerebral atrophy	79053	ALG8	ORPHA:79325
HP:0002059	Cerebral atrophy	2776	GNAQ	ORPHA:3205
HP:0002059	Cerebral atrophy	2776	GNAQ	OMIM:185300
HP:0002059	Cerebral atrophy	8295	TRRAP	OMIM:618454
HP:0002059	Cerebral atrophy	2583	B4GALNT1	OMIM:609195
HP:0002059	Cerebral atrophy	2583	B4GALNT1	ORPHA:101006
HP:0002059	Cerebral atrophy	11232	POLG2	OMIM:619425
HP:0002059	Cerebral atrophy	57724	EPG5	ORPHA:1493
HP:0002059	Cerebral atrophy	4204	MECP2	OMIM:312750
HP:0002059	Cerebral atrophy	81603	TRIM8	OMIM:619428
HP:0002059	Cerebral atrophy	5277	PIGA	OMIM:301072
HP:0002059	Cerebral atrophy	5277	PIGA	OMIM:300868
HP:0002059	Cerebral atrophy	7507	XPA	ORPHA:910
HP:0002059	Cerebral atrophy	7508	XPC	ORPHA:910
HP:0002059	Cerebral atrophy	1643	DDB2	ORPHA:910
HP:0002059	Cerebral atrophy	2072	ERCC4	ORPHA:910
HP:0002059	Cerebral atrophy	2073	ERCC5	ORPHA:910
HP:0002059	Cerebral atrophy	2073	ERCC5	ORPHA:1466
HP:0002059	Cerebral atrophy	55703	POLR3B	OMIM:607694
HP:0002059	Cerebral atrophy	1203	CLN5	ORPHA:228360
HP:0002059	Cerebral atrophy	1203	CLN5	OMIM:256731
HP:0002059	Cerebral atrophy	4558	MT-TF	ORPHA:550
HP:0002059	Cerebral atrophy	4572	MT-TQ	ORPHA:550
HP:0002059	Cerebral atrophy	4512	MT-CO1	ORPHA:550
HP:0002059	Cerebral atrophy	4513	MT-CO2	ORPHA:550
HP:0002059	Cerebral atrophy	4514	MT-CO3	ORPHA:550
HP:0002059	Cerebral atrophy	4578	MT-TW	ORPHA:550
HP:0002059	Cerebral atrophy	4540	MT-ND5	ORPHA:550
HP:0002059	Cerebral atrophy	4541	MT-ND6	ORPHA:550
HP:0002059	Cerebral atrophy	4535	MT-ND1	ORPHA:550
HP:0002059	Cerebral atrophy	4538	MT-ND4	ORPHA:550
HP:0002059	Cerebral atrophy	4567	MT-TL1	ORPHA:550
HP:0002059	Cerebral atrophy	4574	MT-TS1	ORPHA:550
HP:0002059	Cerebral atrophy	4575	MT-TS2	ORPHA:550
HP:0002059	Cerebral atrophy	4564	MT-TH	ORPHA:550
HP:0002059	Cerebral atrophy	27238	GPKOW	ORPHA:2570
HP:0002059	Cerebral atrophy	8925	HERC1	OMIM:617011
HP:0002059	Cerebral atrophy	8925	HERC1	ORPHA:457359
HP:0002059	Cerebral atrophy	54832	VPS13C	OMIM:616840
HP:0002059	Cerebral atrophy	55746	NUP133	OMIM:618349
HP:0002059	Cerebral atrophy	79813	EHMT1	ORPHA:96147
HP:0002059	Cerebral atrophy	57679	ALS2	OMIM:606353
HP:0002059	Cerebral atrophy	27249	MMADHC	OMIM:277410
HP:0002059	Cerebral atrophy	55630	SLC39A4	ORPHA:37
HP:0002059	Cerebral atrophy	116461	TSEN15	OMIM:617026
HP:0002059	Cerebral atrophy	8085	KMT2D	ORPHA:2322
HP:0002059	Cerebral atrophy	7403	KDM6A	ORPHA:2322
HP:0002059	Cerebral atrophy	998	CDC42	OMIM:616737
HP:0002059	Cerebral atrophy	50	ACO2	OMIM:614559
HP:0002059	Cerebral atrophy	10166	SLC25A15	ORPHA:415
HP:0002059	Cerebral atrophy	10166	SLC25A15	OMIM:238970
HP:0002059	Cerebral atrophy	6904	TBCD	ORPHA:496641
HP:0002059	Cerebral atrophy	29925	GMPPB	ORPHA:370968
HP:0002059	Cerebral atrophy	79147	FKRP	ORPHA:370968
HP:0002059	Cerebral atrophy	9215	LARGE1	ORPHA:370968
HP:0002059	Cerebral atrophy	10585	POMT1	ORPHA:370968
HP:0002059	Cerebral atrophy	56915	EXOSC5	OMIM:619576
HP:0002059	Cerebral atrophy	23221	RHOBTB2	OMIM:618004
HP:0002059	Cerebral atrophy	2067	ERCC1	ORPHA:1466
HP:0002059	Cerebral atrophy	54834	GDAP2	OMIM:618369
HP:0002059	Cerebral atrophy	23317	DNAJC13	ORPHA:411602
HP:0002059	Cerebral atrophy	1981	EIF4G1	ORPHA:411602
HP:0002059	Cerebral atrophy	55737	VPS35	ORPHA:411602
HP:0002059	Cerebral atrophy	120892	LRRK2	ORPHA:411602
HP:0002059	Cerebral atrophy	26058	GIGYF2	ORPHA:411602
HP:0002059	Cerebral atrophy	6622	SNCA	ORPHA:411602
HP:0002059	Cerebral atrophy	5604	MAP2K1	ORPHA:1340
HP:0002059	Cerebral atrophy	5605	MAP2K2	ORPHA:1340
HP:0002059	Cerebral atrophy	51608	GET4	OMIM:620200
HP:0002059	Cerebral atrophy	100506658	OCLN	ORPHA:1229
HP:0002059	Cerebral atrophy	9758	FRMPD4	OMIM:300983
HP:0002059	Cerebral atrophy	83696	TRAPPC9	ORPHA:352530
HP:0002059	Cerebral atrophy	128637	TBC1D20	OMIM:615663
HP:0002059	Cerebral atrophy	128637	TBC1D20	ORPHA:2510
HP:0002059	Cerebral atrophy	23476	BRD4	ORPHA:199
HP:0002059	Cerebral atrophy	9126	SMC3	ORPHA:199
HP:0002059	Cerebral atrophy	8243	SMC1A	ORPHA:199
HP:0002059	Cerebral atrophy	25836	NIPBL	ORPHA:199
HP:0002059	Cerebral atrophy	55869	HDAC8	ORPHA:199
HP:0002059	Cerebral atrophy	5885	RAD21	ORPHA:199
HP:0002059	Cerebral atrophy	9791	PTDSS1	OMIM:151050
HP:0002059	Cerebral atrophy	7399	USH2A	ORPHA:231178
HP:0002059	Cerebral atrophy	79955	PDZD7	ORPHA:231178
HP:0002059	Cerebral atrophy	4647	MYO7A	ORPHA:231178
HP:0002059	Cerebral atrophy	4647	MYO7A	ORPHA:231169
HP:0002059	Cerebral atrophy	25861	WHRN	ORPHA:231178
HP:0002059	Cerebral atrophy	84059	ADGRV1	ORPHA:231178
HP:0002059	Cerebral atrophy	6197	RPS6KA3	ORPHA:192
HP:0002059	Cerebral atrophy	10815	CPLX1	OMIM:617976
HP:0002059	Cerebral atrophy	22931	RAB18	OMIM:614222
HP:0002059	Cerebral atrophy	22931	RAB18	ORPHA:2510
HP:0002059	Cerebral atrophy	8905	AP1S2	ORPHA:1568
HP:0002059	Cerebral atrophy	10283	CWC27	ORPHA:166035
HP:0002059	Cerebral atrophy	60558	GUF1	OMIM:617065
HP:0002059	Cerebral atrophy	122553	TRAPPC6B	OMIM:617862
HP:0002059	Cerebral atrophy	57688	ZSWIM6	OMIM:617865
HP:0002059	Cerebral atrophy	2893	GRIA4	OMIM:617864
HP:0002059	Cerebral atrophy	79152	FA2H	ORPHA:171629
HP:0002059	Cerebral atrophy	55164	SHQ1	OMIM:619922
HP:0002059	Cerebral atrophy	6785	ELOVL4	OMIM:133190
HP:0002059	Cerebral atrophy	3090	HIC1	ORPHA:531
HP:0002059	Cerebral atrophy	5048	PAFAH1B1	ORPHA:531
HP:0002059	Cerebral atrophy	7531	YWHAE	ORPHA:531
HP:0002059	Cerebral atrophy	10717	AP4B1	ORPHA:280763
HP:0002059	Cerebral atrophy	9179	AP4M1	ORPHA:280763
HP:0002059	Cerebral atrophy	11154	AP4S1	ORPHA:280763
HP:0002059	Cerebral atrophy	25978	CHMP2B	OMIM:600795
HP:0002059	Cerebral atrophy	340533	NEXMIF	ORPHA:85277
HP:0002059	Cerebral atrophy	10479	SLC9A6	ORPHA:85278
HP:0002059	Cerebral atrophy	777	CACNA1E	OMIM:618285
HP:0002059	Cerebral atrophy	27229	TUBGCP4	ORPHA:2518
HP:0002059	Cerebral atrophy	55005	RMND1	OMIM:614922
HP:0002059	Cerebral atrophy	4693	NDP	ORPHA:649
HP:0002059	Cerebral atrophy	4508	MT-ATP6	ORPHA:644
HP:0002059	Cerebral atrophy	71	ACTG1	ORPHA:2995
HP:0002059	Cerebral atrophy	60	ACTB	ORPHA:2995
HP:0002059	Cerebral atrophy	2801	GOLGA2	OMIM:620240
HP:0002059	Cerebral atrophy	23299	BICD2	OMIM:618291
HP:0002059	Cerebral atrophy	64072	CDH23	ORPHA:231169
HP:0002059	Cerebral atrophy	10083	USH1C	ORPHA:231169
HP:0002059	Cerebral atrophy	124590	USH1G	ORPHA:231169
HP:0002059	Cerebral atrophy	83715	ESPN	ORPHA:231169
HP:0002059	Cerebral atrophy	10518	CIB2	ORPHA:231169
HP:0002059	Cerebral atrophy	65217	PCDH15	ORPHA:231169
HP:0002059	Cerebral atrophy	23404	EXOSC2	OMIM:617763
HP:0002059	Cerebral atrophy	221692	PHACTR1	OMIM:618298
HP:0002059	Cerebral atrophy	4858	NOVA2	OMIM:618859
HP:0002059	Cerebral atrophy	29110	TBK1	OMIM:616439
HP:0002059	Cerebral atrophy	9373	PLAA	OMIM:617527
HP:0002059	Cerebral atrophy	170302	ARX	ORPHA:2508
HP:0002059	Cerebral atrophy	8878	SQSTM1	OMIM:616437
HP:0002059	Cerebral atrophy	5052	PRDX1	OMIM:277400
HP:0002059	Cerebral atrophy	267010	RNU12	ORPHA:512260
HP:0002059	Cerebral atrophy	5654	HTRA1	ORPHA:199354
HP:0002059	Cerebral atrophy	27235	COQ2	OMIM:607426
HP:0002059	Cerebral atrophy	64601	VPS16	OMIM:619291
HP:0002059	Cerebral atrophy	7384	UQCRC1	OMIM:619279
HP:0002059	Cerebral atrophy	22796	COG2	OMIM:617395
HP:0002059	Cerebral atrophy	22796	COG2	ORPHA:435934
HP:0002059	Cerebral atrophy	686	BTD	OMIM:253260
HP:0002059	Cerebral atrophy	2581	GALC	ORPHA:206436
HP:0002059	Cerebral atrophy	2581	GALC	OMIM:245200
HP:0002059	Cerebral atrophy	5660	PSAP	ORPHA:206436
HP:0002059	Cerebral atrophy	1717	DHCR7	OMIM:270400
HP:0002059	Cerebral atrophy	23203	PMPCA	ORPHA:1170
HP:0002059	Cerebral atrophy	2232	FDXR	ORPHA:543470
HP:0002059	Cerebral atrophy	2903	GRIN2A	ORPHA:289266
HP:0002059	Cerebral atrophy	5575	PRKAR1B	ORPHA:412066
HP:0002059	Cerebral atrophy	51473	DCDC2	ORPHA:84081
HP:0002059	Cerebral atrophy	91147	TMEM67	ORPHA:84081
HP:0002059	Cerebral atrophy	9440	MED17	OMIM:613668
HP:0002059	Cerebral atrophy	6792	CDKL5	ORPHA:1934
HP:0002059	Cerebral atrophy	3736	KCNA1	ORPHA:1934
HP:0002059	Cerebral atrophy	9091	PIGQ	ORPHA:1934
HP:0002059	Cerebral atrophy	150094	SIK1	ORPHA:1934
HP:0002059	Cerebral atrophy	23312	DMXL2	ORPHA:1934
HP:0002059	Cerebral atrophy	11284	PNKP	ORPHA:1934
HP:0002059	Cerebral atrophy	6326	SCN2A	ORPHA:1934
HP:0002059	Cerebral atrophy	51227	PIGP	ORPHA:1934
HP:0002059	Cerebral atrophy	6324	SCN1B	ORPHA:1934
HP:0002059	Cerebral atrophy	6908	TBP	OMIM:607136
HP:0002059	Cerebral atrophy	7074	TIAM1	OMIM:619908
HP:0002059	Cerebral atrophy	79989	IFT56	OMIM:619534
HP:0002059	Cerebral atrophy	54664	TMEM106B	ORPHA:275864
HP:0002059	Cerebral atrophy	54664	TMEM106B	ORPHA:100070
HP:0002059	Cerebral atrophy	4208	MEF2C	ORPHA:228384
HP:0002059	Cerebral atrophy	2892	GRIA3	OMIM:300699
HP:0002059	Cerebral atrophy	80208	SPG11	ORPHA:2822
HP:0002059	Cerebral atrophy	23230	VPS13A	ORPHA:2388
HP:0002059	Cerebral atrophy	4983	OPHN1	ORPHA:137831
HP:0002059	Cerebral atrophy	55681	SCYL2	OMIM:618766
HP:0002059	Cerebral atrophy	3097	HIVEP2	OMIM:616977
HP:0002059	Cerebral atrophy	7415	VCP	OMIM:167320
HP:0002059	Cerebral atrophy	1528	CYB5A	ORPHA:621
HP:0002059	Cerebral atrophy	1727	CYB5R3	ORPHA:621
HP:0002059	Cerebral atrophy	29954	POMT2	ORPHA:206559
HP:0002059	Cerebral atrophy	6335	SCN9A	ORPHA:36387
HP:0002059	Cerebral atrophy	112755	STX1B	ORPHA:36387
HP:0002059	Cerebral atrophy	5147	PDE6D	OMIM:615665
HP:0002059	Cerebral atrophy	104	ADARB1	OMIM:618862
HP:0002059	Cerebral atrophy	10273	STUB1	ORPHA:412057
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:177904
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:177901
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:98754
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:177904
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:177901
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:98754
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:177904
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:177901
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:98754
HP:0002059	Cerebral atrophy	26278	SACS	ORPHA:98
HP:0002059	Cerebral atrophy	10430	TMEM147	OMIM:620075
HP:0002059	Cerebral atrophy	85440	DOCK7	ORPHA:411986
HP:0002059	Cerebral atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0002059	Cerebral atrophy	57094	CPA6	OMIM:614418
HP:0002059	Cerebral atrophy	29998	BICRA	OMIM:619325
HP:0002059	Cerebral atrophy	4750	NEK1	OMIM:617892
HP:0012275	Autosomal dominant inheritance with maternal imprinting	7681	MKRN3	OMIM:615346
HP:0012275	Autosomal dominant inheritance with maternal imprinting	23189	KANK1	OMIM:612900
HP:0012276	Digital flexor tenosynovitis	7276	TTR	OMIM:115430
HP:0012276	Digital flexor tenosynovitis	6583	SLC22A4	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	26191	PTPN22	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	4261	CIITA	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	51744	CD244	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	4795	NFKBIL1	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	3586	IL10	OMIM:180300
HP:0012277	Hypoglycinemia	29968	PSAT1	OMIM:610992
HP:0012277	Hypoglycinemia	26227	PHGDH	ORPHA:79351
HP:0012279	Hyposerinemia	29968	PSAT1	ORPHA:284417
HP:0012279	Hyposerinemia	29968	PSAT1	OMIM:610992
HP:0012279	Hyposerinemia	5723	PSPH	ORPHA:79350
HP:0012279	Hyposerinemia	5723	PSPH	OMIM:614023
HP:0012279	Hyposerinemia	26227	PHGDH	ORPHA:79351
HP:0012278	Abnormal circulating serine concentration	9056	SLC7A7	ORPHA:470
HP:0012278	Abnormal circulating serine concentration	10165	SLC25A13	ORPHA:247598
HP:0012278	Abnormal circulating serine concentration	29968	PSAT1	ORPHA:284417
HP:0012278	Abnormal circulating serine concentration	29968	PSAT1	OMIM:610992
HP:0012278	Abnormal circulating serine concentration	5723	PSPH	ORPHA:79350
HP:0012278	Abnormal circulating serine concentration	5723	PSPH	OMIM:614023
HP:0012278	Abnormal circulating serine concentration	26227	PHGDH	ORPHA:79351
HP:0012271	Episodic upper airway obstruction	2161	F12	OMIM:610618
HP:0012272	J wave	775	CACNA1C	OMIM:611875
HP:0012270	Decreased muscle glycogen content	2997	GYS1	OMIM:611556
HP:0012270	Decreased muscle glycogen content	2992	GYG1	ORPHA:263297
HP:0002060	Abnormal cerebral morphology	51399	TRAPPC4	OMIM:618741
HP:0002060	Abnormal cerebral morphology	1139	CHRNA7	ORPHA:199318
HP:0002060	Abnormal cerebral morphology	51569	UFM1	OMIM:617899
HP:0002060	Abnormal cerebral morphology	6228	RPS23	OMIM:617412
HP:0002060	Abnormal cerebral morphology	5932	RBBP8	OMIM:606744
HP:0002060	Abnormal cerebral morphology	5932	RBBP8	ORPHA:808
HP:0002060	Abnormal cerebral morphology	283489	CHAMP1	OMIM:616579
HP:0002060	Abnormal cerebral morphology	10111	RAD50	OMIM:613078
HP:0002060	Abnormal cerebral morphology	5813	PURA	ORPHA:438216
HP:0002060	Abnormal cerebral morphology	89910	UBE3B	ORPHA:2707
HP:0002060	Abnormal cerebral morphology	89910	UBE3B	OMIM:244450
HP:0002060	Abnormal cerebral morphology	5373	PMM2	OMIM:212065
HP:0002060	Abnormal cerebral morphology	1499	CTNNB1	ORPHA:404473
HP:0002060	Abnormal cerebral morphology	1499	CTNNB1	ORPHA:891
HP:0002060	Abnormal cerebral morphology	55131	RBM28	ORPHA:157954
HP:0002060	Abnormal cerebral morphology	55131	RBM28	OMIM:612079
HP:0002060	Abnormal cerebral morphology	55768	NGLY1	OMIM:615273
HP:0002060	Abnormal cerebral morphology	6905	TBCE	OMIM:241410
HP:0002060	Abnormal cerebral morphology	6905	TBCE	ORPHA:2323
HP:0002060	Abnormal cerebral morphology	6905	TBCE	ORPHA:93324
HP:0002060	Abnormal cerebral morphology	6305	SBF1	OMIM:615284
HP:0002060	Abnormal cerebral morphology	7358	UGDH	OMIM:618792
HP:0002060	Abnormal cerebral morphology	2904	GRIN2B	OMIM:616139
HP:0002060	Abnormal cerebral morphology	2904	GRIN2B	OMIM:613970
HP:0002060	Abnormal cerebral morphology	79971	WLS	OMIM:619648
HP:0002060	Abnormal cerebral morphology	79728	PALB2	OMIM:610832
HP:0002060	Abnormal cerebral morphology	79728	PALB2	ORPHA:84
HP:0002060	Abnormal cerebral morphology	56975	FAM20C	ORPHA:1832
HP:0002060	Abnormal cerebral morphology	56975	FAM20C	OMIM:259775
HP:0002060	Abnormal cerebral morphology	54916	TMEM260	OMIM:617478
HP:0002060	Abnormal cerebral morphology	120	ADD3	OMIM:617008
HP:0002060	Abnormal cerebral morphology	5426	POLE	OMIM:618336
HP:0002060	Abnormal cerebral morphology	3480	IGF1R	ORPHA:73273
HP:0002060	Abnormal cerebral morphology	3480	IGF1R	OMIM:270450
HP:0002060	Abnormal cerebral morphology	3479	IGF1	ORPHA:73272
HP:0002060	Abnormal cerebral morphology	3479	IGF1	OMIM:608747
HP:0002060	Abnormal cerebral morphology	10785	WDR4	OMIM:618346
HP:0002060	Abnormal cerebral morphology	10785	WDR4	OMIM:618347
HP:0002060	Abnormal cerebral morphology	10785	WDR4	ORPHA:2065
HP:0002060	Abnormal cerebral morphology	54517	PUS7	OMIM:618342
HP:0002060	Abnormal cerebral morphology	57122	NUP107	OMIM:618348
HP:0002060	Abnormal cerebral morphology	57122	NUP107	ORPHA:243
HP:0002060	Abnormal cerebral morphology	57122	NUP107	ORPHA:2065
HP:0002060	Abnormal cerebral morphology	27125	AFF4	ORPHA:444077
HP:0002060	Abnormal cerebral morphology	27125	AFF4	OMIM:616368
HP:0002060	Abnormal cerebral morphology	5575	PRKAR1B	OMIM:619680
HP:0002060	Abnormal cerebral morphology	5515	PPP2CA	OMIM:618354
HP:0002060	Abnormal cerebral morphology	23114	NFASC	OMIM:618356
HP:0002060	Abnormal cerebral morphology	10588	MTHFS	OMIM:618367
HP:0002060	Abnormal cerebral morphology	2334	AFF2	OMIM:309548
HP:0002060	Abnormal cerebral morphology	3054	HCFC1	OMIM:309541
HP:0002060	Abnormal cerebral morphology	201163	FLCN	OMIM:610883
HP:0002060	Abnormal cerebral morphology	2019	EN1	OMIM:619218
HP:0002060	Abnormal cerebral morphology	3431	SP110	OMIM:235550
HP:0002060	Abnormal cerebral morphology	3431	SP110	ORPHA:79124
HP:0002060	Abnormal cerebral morphology	23111	SPART	ORPHA:101000
HP:0002060	Abnormal cerebral morphology	11342	RNF13	OMIM:618379
HP:0002060	Abnormal cerebral morphology	11342	RNF13	ORPHA:544503
HP:0002060	Abnormal cerebral morphology	4613	MYCN	OMIM:164280
HP:0002060	Abnormal cerebral morphology	4613	MYCN	ORPHA:391641
HP:0002060	Abnormal cerebral morphology	51729	WBP11	OMIM:619227
HP:0002060	Abnormal cerebral morphology	6304	SATB1	OMIM:619228
HP:0002060	Abnormal cerebral morphology	6304	SATB1	OMIM:619229
HP:0002060	Abnormal cerebral morphology	2707	GJB3	ORPHA:317
HP:0002060	Abnormal cerebral morphology	2531	KDSR	ORPHA:317
HP:0002060	Abnormal cerebral morphology	127534	GJB4	ORPHA:317
HP:0002060	Abnormal cerebral morphology	8943	AP3D1	OMIM:617050
HP:0002060	Abnormal cerebral morphology	84265	POLR3GL	OMIM:619234
HP:0002060	Abnormal cerebral morphology	134218	DNAJC21	OMIM:617052
HP:0002060	Abnormal cerebral morphology	27107	ZBTB11	OMIM:618383
HP:0002060	Abnormal cerebral morphology	8452	CUL3	OMIM:619239
HP:0002060	Abnormal cerebral morphology	7204	TRIO	OMIM:617061
HP:0002060	Abnormal cerebral morphology	23112	TNRC6B	OMIM:619243
HP:0002060	Abnormal cerebral morphology	55717	WDR11	OMIM:620237
HP:0002060	Abnormal cerebral morphology	93587	TRMT10A	ORPHA:391408
HP:0002060	Abnormal cerebral morphology	93587	TRMT10A	OMIM:616033
HP:0002060	Abnormal cerebral morphology	84919	PPP1R15B	ORPHA:391408
HP:0002060	Abnormal cerebral morphology	84919	PPP1R15B	OMIM:616817
HP:0002060	Abnormal cerebral morphology	201595	STT3B	ORPHA:370924
HP:0002060	Abnormal cerebral morphology	201595	STT3B	OMIM:615597
HP:0002060	Abnormal cerebral morphology	10436	EMG1	OMIM:211180
HP:0002060	Abnormal cerebral morphology	10436	EMG1	ORPHA:1270
HP:0002060	Abnormal cerebral morphology	10084	PQBP1	OMIM:309500
HP:0002060	Abnormal cerebral morphology	10084	PQBP1	ORPHA:93950
HP:0002060	Abnormal cerebral morphology	10084	PQBP1	ORPHA:93946
HP:0002060	Abnormal cerebral morphology	10084	PQBP1	ORPHA:93947
HP:0002060	Abnormal cerebral morphology	8242	KDM5C	ORPHA:85279
HP:0002060	Abnormal cerebral morphology	8242	KDM5C	OMIM:300534
HP:0002060	Abnormal cerebral morphology	1315	COPB1	OMIM:619255
HP:0002060	Abnormal cerebral morphology	89970	RSPRY1	ORPHA:457395
HP:0002060	Abnormal cerebral morphology	89970	RSPRY1	OMIM:616723
HP:0002060	Abnormal cerebral morphology	54187	NANS	OMIM:610442
HP:0002060	Abnormal cerebral morphology	84464	SLX4	OMIM:613951
HP:0002060	Abnormal cerebral morphology	84464	SLX4	ORPHA:84
HP:0002060	Abnormal cerebral morphology	1968	EIF2S3	ORPHA:85282
HP:0002060	Abnormal cerebral morphology	1968	EIF2S3	OMIM:300148
HP:0002060	Abnormal cerebral morphology	81615	TMEM163	OMIM:620243
HP:0002060	Abnormal cerebral morphology	64131	XYLT1	ORPHA:370930
HP:0002060	Abnormal cerebral morphology	64131	XYLT1	OMIM:615777
HP:0002060	Abnormal cerebral morphology	25886	POC1A	OMIM:614813
HP:0002060	Abnormal cerebral morphology	5138	PDE2A	OMIM:619150
HP:0002060	Abnormal cerebral morphology	128	ADH5	OMIM:619151
HP:0002060	Abnormal cerebral morphology	64374	SIL1	OMIM:248800
HP:0002060	Abnormal cerebral morphology	64374	SIL1	ORPHA:559
HP:0002060	Abnormal cerebral morphology	6535	SLC6A8	OMIM:300352
HP:0002060	Abnormal cerebral morphology	6535	SLC6A8	ORPHA:52503
HP:0002060	Abnormal cerebral morphology	26960	NBEA	OMIM:619157
HP:0002060	Abnormal cerebral morphology	6309	SC5D	ORPHA:46059
HP:0002060	Abnormal cerebral morphology	6309	SC5D	OMIM:607330
HP:0002060	Abnormal cerebral morphology	10093	ARPC4	OMIM:620141
HP:0002060	Abnormal cerebral morphology	613	BCR	ORPHA:261330
HP:0002060	Abnormal cerebral morphology	1399	CRKL	ORPHA:261330
HP:0002060	Abnormal cerebral morphology	9640	ZNF592	ORPHA:83472
HP:0002060	Abnormal cerebral morphology	84942	WDR73	ORPHA:83472
HP:0002060	Abnormal cerebral morphology	84942	WDR73	ORPHA:2065
HP:0002060	Abnormal cerebral morphology	84942	WDR73	OMIM:251300
HP:0002060	Abnormal cerebral morphology	224	ALDH3A2	ORPHA:816
HP:0002060	Abnormal cerebral morphology	150468	CKAP2L	ORPHA:3255
HP:0002060	Abnormal cerebral morphology	150468	CKAP2L	OMIM:272440
HP:0002060	Abnormal cerebral morphology	3242	HPD	OMIM:140350
HP:0002060	Abnormal cerebral morphology	338657	CENATAC	OMIM:620153
HP:0002060	Abnormal cerebral morphology	25778	DSTYK	OMIM:270750
HP:0002060	Abnormal cerebral morphology	25839	COG4	ORPHA:263501
HP:0002060	Abnormal cerebral morphology	25839	COG4	OMIM:613489
HP:0002060	Abnormal cerebral morphology	25839	COG4	ORPHA:85172
HP:0002060	Abnormal cerebral morphology	1738	DLD	ORPHA:2394
HP:0002060	Abnormal cerebral morphology	1738	DLD	OMIM:246900
HP:0002060	Abnormal cerebral morphology	92579	G6PC3	OMIM:612541
HP:0002060	Abnormal cerebral morphology	672	BRCA1	ORPHA:84
HP:0002060	Abnormal cerebral morphology	672	BRCA1	OMIM:617883
HP:0002060	Abnormal cerebral morphology	10459	MAD2L2	ORPHA:84
HP:0002060	Abnormal cerebral morphology	10459	MAD2L2	OMIM:617243
HP:0002060	Abnormal cerebral morphology	7516	XRCC2	ORPHA:84
HP:0002060	Abnormal cerebral morphology	7516	XRCC2	OMIM:617247
HP:0002060	Abnormal cerebral morphology	29089	UBE2T	ORPHA:84
HP:0002060	Abnormal cerebral morphology	675	BRCA2	ORPHA:84
HP:0002060	Abnormal cerebral morphology	675	BRCA2	OMIM:605724
HP:0002060	Abnormal cerebral morphology	55120	FANCL	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2175	FANCA	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2175	FANCA	OMIM:227650
HP:0002060	Abnormal cerebral morphology	2176	FANCC	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2176	FANCC	OMIM:227645
HP:0002060	Abnormal cerebral morphology	2178	FANCE	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2178	FANCE	OMIM:600901
HP:0002060	Abnormal cerebral morphology	2188	FANCF	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2188	FANCF	OMIM:603467
HP:0002060	Abnormal cerebral morphology	2189	FANCG	ORPHA:84
HP:0002060	Abnormal cerebral morphology	2189	FANCG	OMIM:614082
HP:0002060	Abnormal cerebral morphology	5889	RAD51C	ORPHA:84
HP:0002060	Abnormal cerebral morphology	55159	RFWD3	ORPHA:84
HP:0002060	Abnormal cerebral morphology	55159	RFWD3	OMIM:617784
HP:0002060	Abnormal cerebral morphology	83990	BRIP1	ORPHA:84
HP:0002060	Abnormal cerebral morphology	57697	FANCM	ORPHA:84
HP:0002060	Abnormal cerebral morphology	222663	SCUBE3	OMIM:619184
HP:0002060	Abnormal cerebral morphology	23036	ZNF292	OMIM:619188
HP:0002060	Abnormal cerebral morphology	63894	VIPAS39	OMIM:613404
HP:0002060	Abnormal cerebral morphology	83879	CDCA7	OMIM:616910
HP:0002060	Abnormal cerebral morphology	84947	SERAC1	OMIM:614739
HP:0002060	Abnormal cerebral morphology	54084	TSPEAR	OMIM:620173
HP:0002060	Abnormal cerebral morphology	5447	POR	OMIM:201750
HP:0002060	Abnormal cerebral morphology	56006	SMG9	OMIM:616920
HP:0002060	Abnormal cerebral morphology	91754	NEK9	ORPHA:64754
HP:0002060	Abnormal cerebral morphology	84720	PIGO	OMIM:614749
HP:0002060	Abnormal cerebral morphology	23345	SYNE1	ORPHA:319332
HP:0002060	Abnormal cerebral morphology	3675	ITGA3	OMIM:614748
HP:0002060	Abnormal cerebral morphology	23137	SMC5	OMIM:620185
HP:0002060	Abnormal cerebral morphology	79759	ZNF668	OMIM:620194
HP:0002060	Abnormal cerebral morphology	388015	RTL1	ORPHA:96334
HP:0002060	Abnormal cerebral morphology	8788	DLK1	ORPHA:96334
HP:0002060	Abnormal cerebral morphology	55384	MEG3	ORPHA:96334
HP:0002060	Abnormal cerebral morphology	415	ARSL	OMIM:302950
HP:0002060	Abnormal cerebral morphology	81887	LAS1L	OMIM:309585
HP:0002060	Abnormal cerebral morphology	5116	PCNT	ORPHA:808
HP:0002060	Abnormal cerebral morphology	5116	PCNT	OMIM:210720
HP:0002060	Abnormal cerebral morphology	5116	PCNT	ORPHA:2637
HP:0002060	Abnormal cerebral morphology	79902	NUP85	ORPHA:808
HP:0002060	Abnormal cerebral morphology	84126	ATRIP	ORPHA:808
HP:0002060	Abnormal cerebral morphology	51567	TDP2	OMIM:616949
HP:0002060	Abnormal cerebral morphology	6567	SLC16A2	ORPHA:59
HP:0002060	Abnormal cerebral morphology	6567	SLC16A2	OMIM:300523
HP:0002060	Abnormal cerebral morphology	22907	DHX30	OMIM:617804
HP:0002060	Abnormal cerebral morphology	9894	TELO2	OMIM:616954
HP:0002060	Abnormal cerebral morphology	10075	HUWE1	OMIM:309590
HP:0002060	Abnormal cerebral morphology	29123	ANKRD11	ORPHA:2332
HP:0002060	Abnormal cerebral morphology	29123	ANKRD11	OMIM:148050
HP:0002060	Abnormal cerebral morphology	9837	GINS1	OMIM:617827
HP:0002060	Abnormal cerebral morphology	79840	NHEJ1	ORPHA:169079
HP:0002060	Abnormal cerebral morphology	55906	ZC4H2	OMIM:314580
HP:0002060	Abnormal cerebral morphology	55906	ZC4H2	OMIM:301041
HP:0002060	Abnormal cerebral morphology	134701	RIPPLY2	ORPHA:2311
HP:0002060	Abnormal cerebral morphology	10683	DLL3	ORPHA:2311
HP:0002060	Abnormal cerebral morphology	3955	LFNG	ORPHA:2311
HP:0002060	Abnormal cerebral morphology	84667	HES7	ORPHA:2311
HP:0002060	Abnormal cerebral morphology	145873	MESP2	ORPHA:2311
HP:0002060	Abnormal cerebral morphology	157570	ESCO2	ORPHA:2319
HP:0002060	Abnormal cerebral morphology	157570	ESCO2	OMIM:268300
HP:0002060	Abnormal cerebral morphology	157570	ESCO2	OMIM:216100
HP:0002060	Abnormal cerebral morphology	157570	ESCO2	ORPHA:3103
HP:0002060	Abnormal cerebral morphology	197131	UBR1	ORPHA:2315
HP:0002060	Abnormal cerebral morphology	197131	UBR1	OMIM:243800
HP:0002060	Abnormal cerebral morphology	5723	PSPH	ORPHA:79350
HP:0002060	Abnormal cerebral morphology	5723	PSPH	OMIM:614023
HP:0002060	Abnormal cerebral morphology	55180	LINS1	OMIM:614340
HP:0002060	Abnormal cerebral morphology	80152	CENPT	OMIM:618702
HP:0002060	Abnormal cerebral morphology	6697	SPR	ORPHA:70594
HP:0002060	Abnormal cerebral morphology	6697	SPR	OMIM:612716
HP:0002060	Abnormal cerebral morphology	953	ENTPD1	OMIM:615683
HP:0002060	Abnormal cerebral morphology	953	ENTPD1	ORPHA:401810
HP:0002060	Abnormal cerebral morphology	84628	NTNG2	OMIM:618718
HP:0002060	Abnormal cerebral morphology	54802	TRIT1	OMIM:617873
HP:0002060	Abnormal cerebral morphology	84700	MYO18B	OMIM:616549
HP:0002060	Abnormal cerebral morphology	1788	DNMT3A	OMIM:618724
HP:0002060	Abnormal cerebral morphology	8086	AAAS	OMIM:231550
HP:0002060	Abnormal cerebral morphology	8086	AAAS	ORPHA:869
HP:0002060	Abnormal cerebral morphology	2182	ACSL4	OMIM:300387
HP:0002060	Abnormal cerebral morphology	51763	INPP5K	OMIM:617404
HP:0002060	Abnormal cerebral morphology	51763	INPP5K	ORPHA:559
HP:0002060	Abnormal cerebral morphology	246329	STAC3	OMIM:255995
HP:0002060	Abnormal cerebral morphology	8367	H4C5	OMIM:619950
HP:0002060	Abnormal cerebral morphology	6873	TAF2	OMIM:615599
HP:0002060	Abnormal cerebral morphology	4047	LSS	ORPHA:2850
HP:0002060	Abnormal cerebral morphology	4047	LSS	OMIM:618840
HP:0002060	Abnormal cerebral morphology	197	AHSG	ORPHA:2850
HP:0002060	Abnormal cerebral morphology	3694	ITGB6	ORPHA:2850
HP:0002060	Abnormal cerebral morphology	6536	SLC6A9	OMIM:617301
HP:0002060	Abnormal cerebral morphology	65082	VPS33A	OMIM:617303
HP:0002060	Abnormal cerebral morphology	28960	DCPS	OMIM:616459
HP:0002060	Abnormal cerebral morphology	10559	SLC35A1	OMIM:603585
HP:0002060	Abnormal cerebral morphology	80153	EDC3	OMIM:616460
HP:0002060	Abnormal cerebral morphology	55870	ASH1L	OMIM:617796
HP:0002060	Abnormal cerebral morphology	25885	POLR1A	OMIM:616462
HP:0002060	Abnormal cerebral morphology	816	CAMK2B	OMIM:617799
HP:0002060	Abnormal cerebral morphology	23184	MESD	OMIM:618644
HP:0002060	Abnormal cerebral morphology	55109	AGGF1	ORPHA:90308
HP:0002060	Abnormal cerebral morphology	2626	GATA4	ORPHA:251071
HP:0002060	Abnormal cerebral morphology	1656	DDX6	OMIM:618653
HP:0002060	Abnormal cerebral morphology	1501	CTNND2	ORPHA:281
HP:0002060	Abnormal cerebral morphology	9037	SEMA5A	ORPHA:281
HP:0002060	Abnormal cerebral morphology	26057	ANKRD17	OMIM:619504
HP:0002060	Abnormal cerebral morphology	57167	SALL4	ORPHA:233
HP:0002060	Abnormal cerebral morphology	9935	MAFB	ORPHA:233
HP:0002060	Abnormal cerebral morphology	1123	CHN1	ORPHA:233
HP:0002060	Abnormal cerebral morphology	253738	EBF3	OMIM:617330
HP:0002060	Abnormal cerebral morphology	286	ANK1	ORPHA:251066
HP:0002060	Abnormal cerebral morphology	5860	QDPR	ORPHA:226
HP:0002060	Abnormal cerebral morphology	5860	QDPR	OMIM:261630
HP:0002060	Abnormal cerebral morphology	7385	UQCRC2	OMIM:615160
HP:0002060	Abnormal cerebral morphology	7750	ZMYM2	OMIM:619522
HP:0002060	Abnormal cerebral morphology	9922	IQSEC1	OMIM:618687
HP:0002060	Abnormal cerebral morphology	10516	FBLN5	ORPHA:90348
HP:0002060	Abnormal cerebral morphology	10516	FBLN5	ORPHA:90349
HP:0002060	Abnormal cerebral morphology	10516	FBLN5	OMIM:219100
HP:0002060	Abnormal cerebral morphology	4052	LTBP1	ORPHA:90349
HP:0002060	Abnormal cerebral morphology	30008	EFEMP2	ORPHA:90349
HP:0002060	Abnormal cerebral morphology	30008	EFEMP2	OMIM:614437
HP:0002060	Abnormal cerebral morphology	1173	AP2M1	ORPHA:1942
HP:0002060	Abnormal cerebral morphology	1106	CHD2	ORPHA:1942
HP:0002060	Abnormal cerebral morphology	6529	SLC6A1	ORPHA:1942
HP:0002060	Abnormal cerebral morphology	29893	PSMC3IP	ORPHA:243
HP:0002060	Abnormal cerebral morphology	171568	POLR3H	ORPHA:243
HP:0002060	Abnormal cerebral morphology	2516	NR5A1	ORPHA:243
HP:0002060	Abnormal cerebral morphology	125150	ZSWIM7	ORPHA:243
HP:0002060	Abnormal cerebral morphology	9210	BMP15	ORPHA:243
HP:0002060	Abnormal cerebral morphology	23514	SPIDR	ORPHA:243
HP:0002060	Abnormal cerebral morphology	2492	FSHR	ORPHA:243
HP:0002060	Abnormal cerebral morphology	646	BNC1	ORPHA:243
HP:0002060	Abnormal cerebral morphology	5587	PRKD1	OMIM:617364
HP:0002060	Abnormal cerebral morphology	54808	DYM	ORPHA:239
HP:0002060	Abnormal cerebral morphology	54808	DYM	OMIM:223800
HP:0002060	Abnormal cerebral morphology	54808	DYM	OMIM:607326
HP:0002060	Abnormal cerebral morphology	10466	COG5	ORPHA:263487
HP:0002060	Abnormal cerebral morphology	10466	COG5	OMIM:613612
HP:0002060	Abnormal cerebral morphology	30000	TNPO2	OMIM:619556
HP:0002060	Abnormal cerebral morphology	498	ATP5F1A	OMIM:616045
HP:0002060	Abnormal cerebral morphology	23314	SATB2	ORPHA:251028
HP:0002060	Abnormal cerebral morphology	23314	SATB2	ORPHA:251019
HP:0002060	Abnormal cerebral morphology	23314	SATB2	OMIM:612313
HP:0002060	Abnormal cerebral morphology	2627	GATA6	OMIM:600001
HP:0002060	Abnormal cerebral morphology	4695	NDUFA2	OMIM:618235
HP:0002060	Abnormal cerebral morphology	79868	ALG13	OMIM:300884
HP:0002060	Abnormal cerebral morphology	340665	CYP26C1	ORPHA:398189
HP:0002060	Abnormal cerebral morphology	92344	GORAB	OMIM:231070
HP:0002060	Abnormal cerebral morphology	6898	TAT	ORPHA:28378
HP:0002060	Abnormal cerebral morphology	80324	PUS1	OMIM:600462
HP:0002060	Abnormal cerebral morphology	80324	PUS1	ORPHA:2598
HP:0002060	Abnormal cerebral morphology	9496	TBX4	ORPHA:261279
HP:0002060	Abnormal cerebral morphology	9451	EIF2AK3	OMIM:226980
HP:0002060	Abnormal cerebral morphology	9451	EIF2AK3	ORPHA:1667
HP:0002060	Abnormal cerebral morphology	5000	ORC4	OMIM:613800
HP:0002060	Abnormal cerebral morphology	5000	ORC4	ORPHA:2554
HP:0002060	Abnormal cerebral morphology	81620	CDT1	OMIM:613804
HP:0002060	Abnormal cerebral morphology	81620	CDT1	ORPHA:2554
HP:0002060	Abnormal cerebral morphology	23594	ORC6	OMIM:613803
HP:0002060	Abnormal cerebral morphology	23594	ORC6	ORPHA:2554
HP:0002060	Abnormal cerebral morphology	990	CDC6	OMIM:613805
HP:0002060	Abnormal cerebral morphology	990	CDC6	ORPHA:2554
HP:0002060	Abnormal cerebral morphology	10847	SRCAP	OMIM:619595
HP:0002060	Abnormal cerebral morphology	55526	DHTKD1	OMIM:204750
HP:0002060	Abnormal cerebral morphology	90522	YIF1B	OMIM:619125
HP:0002060	Abnormal cerebral morphology	6472	SHMT2	OMIM:619121
HP:0002060	Abnormal cerebral morphology	90416	CCDC32	OMIM:619123
HP:0002060	Abnormal cerebral morphology	9895	TECPR2	ORPHA:320385
HP:0002060	Abnormal cerebral morphology	9895	TECPR2	OMIM:615031
HP:0002060	Abnormal cerebral morphology	3739	KCNA4	OMIM:618284
HP:0002060	Abnormal cerebral morphology	4683	NBN	ORPHA:647
HP:0002060	Abnormal cerebral morphology	4683	NBN	OMIM:251260
HP:0002060	Abnormal cerebral morphology	8665	EIF3F	OMIM:618295
HP:0002060	Abnormal cerebral morphology	3763	KCNJ6	ORPHA:435628
HP:0002060	Abnormal cerebral morphology	3763	KCNJ6	OMIM:614098
HP:0002060	Abnormal cerebral morphology	341640	FREM2	ORPHA:2052
HP:0002060	Abnormal cerebral morphology	23426	GRIP1	ORPHA:2052
HP:0002060	Abnormal cerebral morphology	8506	CNTNAP1	OMIM:618186
HP:0002060	Abnormal cerebral morphology	55325	UFSP2	OMIM:620028
HP:0002060	Abnormal cerebral morphology	10274	STAG1	ORPHA:502434
HP:0002060	Abnormal cerebral morphology	10274	STAG1	OMIM:617635
HP:0002060	Abnormal cerebral morphology	5111	PCNA	OMIM:615919
HP:0002060	Abnormal cerebral morphology	5111	PCNA	ORPHA:438134
HP:0002060	Abnormal cerebral morphology	57176	VARS2	OMIM:615917
HP:0002060	Abnormal cerebral morphology	183	AGT	OMIM:267430
HP:0002060	Abnormal cerebral morphology	5972	REN	OMIM:267430
HP:0002060	Abnormal cerebral morphology	185	AGTR1	OMIM:267430
HP:0002060	Abnormal cerebral morphology	1636	ACE	OMIM:267430
HP:0002060	Abnormal cerebral morphology	5689	PSMB1	OMIM:620038
HP:0002060	Abnormal cerebral morphology	7298	TYMS	OMIM:620040
HP:0002060	Abnormal cerebral morphology	1351	COX8A	OMIM:619059
HP:0002060	Abnormal cerebral morphology	100131801	PET100	OMIM:619055
HP:0002060	Abnormal cerebral morphology	4212	MEIS2	OMIM:600987
HP:0002060	Abnormal cerebral morphology	4212	MEIS2	ORPHA:261190
HP:0002060	Abnormal cerebral morphology	26053	AUTS2	ORPHA:352490
HP:0002060	Abnormal cerebral morphology	26053	AUTS2	OMIM:615834
HP:0002060	Abnormal cerebral morphology	10382	TUBB4A	OMIM:612438
HP:0002060	Abnormal cerebral morphology	1802	DPH2	OMIM:620062
HP:0002060	Abnormal cerebral morphology	149371	EXOC8	OMIM:619076
HP:0002060	Abnormal cerebral morphology	285175	UNC80	OMIM:616801
HP:0002060	Abnormal cerebral morphology	285175	UNC80	ORPHA:371364
HP:0002060	Abnormal cerebral morphology	92667	MGME1	ORPHA:352447
HP:0002060	Abnormal cerebral morphology	92667	MGME1	OMIM:615084
HP:0002060	Abnormal cerebral morphology	55027	HEATR3	OMIM:620072
HP:0002060	Abnormal cerebral morphology	5700	PSMC1	OMIM:620071
HP:0002060	Abnormal cerebral morphology	58508	KMT2C	ORPHA:261652
HP:0002060	Abnormal cerebral morphology	58508	KMT2C	OMIM:617768
HP:0002060	Abnormal cerebral morphology	25828	TXN2	OMIM:616811
HP:0002060	Abnormal cerebral morphology	3187	HNRNPH1	OMIM:620083
HP:0002060	Abnormal cerebral morphology	4677	NARS1	OMIM:619091
HP:0002060	Abnormal cerebral morphology	4677	NARS1	OMIM:619092
HP:0002060	Abnormal cerebral morphology	92154	MTSS2	OMIM:620086
HP:0002060	Abnormal cerebral morphology	197322	ACSF3	ORPHA:289504
HP:0002060	Abnormal cerebral morphology	2702	GJA5	OMIM:612474
HP:0002060	Abnormal cerebral morphology	2703	GJA8	OMIM:612474
HP:0002060	Abnormal cerebral morphology	10664	CTCF	OMIM:615502
HP:0002060	Abnormal cerebral morphology	10664	CTCF	ORPHA:363611
HP:0002060	Abnormal cerebral morphology	6307	MSMO1	OMIM:616834
HP:0002060	Abnormal cerebral morphology	1828	DSG1	OMIM:615508
HP:0002060	Abnormal cerebral morphology	3720	JARID2	OMIM:620098
HP:0002060	Abnormal cerebral morphology	579	NKX3-2	OMIM:613330
HP:0002060	Abnormal cerebral morphology	55784	MCTP2	ORPHA:1596
HP:0002060	Abnormal cerebral morphology	6301	SARS1	OMIM:617709
HP:0002060	Abnormal cerebral morphology	26224	FBXL3	OMIM:606220
HP:0002060	Abnormal cerebral morphology	5925	RB1	ORPHA:1587
HP:0002060	Abnormal cerebral morphology	27315	PGAP2	OMIM:614207
HP:0002060	Abnormal cerebral morphology	83987	CCDC8	OMIM:614205
HP:0002060	Abnormal cerebral morphology	80185	TTI2	OMIM:615541
HP:0002060	Abnormal cerebral morphology	80185	TTI2	ORPHA:391307
HP:0002060	Abnormal cerebral morphology	128989	TANGO2	OMIM:616878
HP:0002060	Abnormal cerebral morphology	128989	TANGO2	ORPHA:480864
HP:0002060	Abnormal cerebral morphology	23443	SLC35A3	OMIM:615553
HP:0002060	Abnormal cerebral morphology	202018	TAPT1	OMIM:616897
HP:0002060	Abnormal cerebral morphology	6591	SNAI2	ORPHA:2884
HP:0002060	Abnormal cerebral morphology	3815	KIT	ORPHA:2884
HP:0002060	Abnormal cerebral morphology	3756	KCNH1	ORPHA:420561
HP:0002060	Abnormal cerebral morphology	9320	TRIP12	OMIM:617752
HP:0002060	Abnormal cerebral morphology	1663	DDX11	OMIM:613398
HP:0002060	Abnormal cerebral morphology	2186	BPTF	OMIM:617755
HP:0002060	Abnormal cerebral morphology	738	VPS51	OMIM:618606
HP:0002060	Abnormal cerebral morphology	26235	FBXL4	OMIM:615471
HP:0002060	Abnormal cerebral morphology	6777	STAT5B	OMIM:618985
HP:0002060	Abnormal cerebral morphology	23498	HAAO	OMIM:617660
HP:0002060	Abnormal cerebral morphology	161582	DNAAF4	OMIM:615482
HP:0002060	Abnormal cerebral morphology	65993	MRPS34	OMIM:617664
HP:0002060	Abnormal cerebral morphology	80816	ASXL3	OMIM:615485
HP:0002060	Abnormal cerebral morphology	80816	ASXL3	ORPHA:352577
HP:0002060	Abnormal cerebral morphology	8942	KYNU	OMIM:617661
HP:0002060	Abnormal cerebral morphology	1841	DTYMK	OMIM:619847
HP:0002060	Abnormal cerebral morphology	3149	HMGB3	OMIM:300915
HP:0002060	Abnormal cerebral morphology	2132	EXT2	ORPHA:466926
HP:0002060	Abnormal cerebral morphology	2132	EXT2	OMIM:616682
HP:0002060	Abnormal cerebral morphology	9723	SEMA3E	ORPHA:138
HP:0002060	Abnormal cerebral morphology	288	ANK3	OMIM:615493
HP:0002060	Abnormal cerebral morphology	7994	KAT6A	ORPHA:457193
HP:0002060	Abnormal cerebral morphology	7994	KAT6A	OMIM:616268
HP:0002060	Abnormal cerebral morphology	788	SLC25A20	ORPHA:159
HP:0002060	Abnormal cerebral morphology	8558	CDK10	OMIM:617694
HP:0002060	Abnormal cerebral morphology	285362	SUMF1	ORPHA:585
HP:0002060	Abnormal cerebral morphology	4285	MIPEP	OMIM:617228
HP:0002060	Abnormal cerebral morphology	641	BLM	OMIM:210900
HP:0002060	Abnormal cerebral morphology	84295	PHF6	ORPHA:127
HP:0002060	Abnormal cerebral morphology	84295	PHF6	OMIM:301900
HP:0002060	Abnormal cerebral morphology	6135	RPL11	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6138	RPL15	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6229	RPS24	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6125	RPL5	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6204	RPS10	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6224	RPS20	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6165	RPL35A	ORPHA:124
HP:0002060	Abnormal cerebral morphology	2623	GATA1	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6223	RPS19	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6223	RPS19	OMIM:105650
HP:0002060	Abnormal cerebral morphology	6232	RPS27	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6231	RPS26	ORPHA:124
HP:0002060	Abnormal cerebral morphology	11224	RPL35	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6160	RPL31	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6218	RPS17	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6201	RPS7	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6155	RPL27	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6154	RPL26	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6210	RPS15A	ORPHA:124
HP:0002060	Abnormal cerebral morphology	90121	TSR2	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6141	RPL18	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6235	RPS29	ORPHA:124
HP:0002060	Abnormal cerebral morphology	6234	RPS28	ORPHA:124
HP:0002060	Abnormal cerebral morphology	9742	IFT140	OMIM:266920
HP:0002060	Abnormal cerebral morphology	55656	INTS8	OMIM:618572
HP:0002060	Abnormal cerebral morphology	165918	RNF168	OMIM:611943
HP:0002060	Abnormal cerebral morphology	165918	RNF168	ORPHA:420741
HP:0002060	Abnormal cerebral morphology	389827	MYMK	OMIM:254940
HP:0002060	Abnormal cerebral morphology	389827	MYMK	ORPHA:1358
HP:0002060	Abnormal cerebral morphology	51574	LARP7	OMIM:615071
HP:0002060	Abnormal cerebral morphology	286053	NSMCE2	OMIM:617253
HP:0002060	Abnormal cerebral morphology	84894	LINGO1	OMIM:618103
HP:0002060	Abnormal cerebral morphology	123606	NIPA1	ORPHA:261183
HP:0002060	Abnormal cerebral morphology	81614	NIPA2	ORPHA:261183
HP:0002060	Abnormal cerebral morphology	8473	OGT	OMIM:300997
HP:0002060	Abnormal cerebral morphology	6418	SET	OMIM:618106
HP:0002060	Abnormal cerebral morphology	9526	MPDU1	OMIM:609180
HP:0002060	Abnormal cerebral morphology	1120	CHKB	OMIM:602541
HP:0002060	Abnormal cerebral morphology	3778	KCNMA1	OMIM:618596
HP:0002060	Abnormal cerebral morphology	112939	NACC1	ORPHA:500545
HP:0002060	Abnormal cerebral morphology	5053	PAH	OMIM:261600
HP:0002060	Abnormal cerebral morphology	5053	PAH	ORPHA:79254
HP:0002060	Abnormal cerebral morphology	5053	PAH	ORPHA:2209
HP:0002060	Abnormal cerebral morphology	4041	LRP5	OMIM:259770
HP:0002060	Abnormal cerebral morphology	4041	LRP5	ORPHA:891
HP:0002060	Abnormal cerebral morphology	3039	HBA1	ORPHA:98791
HP:0002060	Abnormal cerebral morphology	3040	HBA2	ORPHA:98791
HP:0002060	Abnormal cerebral morphology	51132	RLIM	OMIM:300978
HP:0002060	Abnormal cerebral morphology	4998	ORC1	OMIM:224690
HP:0002060	Abnormal cerebral morphology	4998	ORC1	ORPHA:2554
HP:0002060	Abnormal cerebral morphology	27341	RRP7A	OMIM:619453
HP:0002060	Abnormal cerebral morphology	3376	IARS1	ORPHA:541423
HP:0002060	Abnormal cerebral morphology	5077	PAX3	OMIM:148820
HP:0002060	Abnormal cerebral morphology	5077	PAX3	ORPHA:896
HP:0002060	Abnormal cerebral morphology	538	ATP7A	ORPHA:565
HP:0002060	Abnormal cerebral morphology	538	ATP7A	OMIM:309400
HP:0002060	Abnormal cerebral morphology	92949	ADAMTSL1	ORPHA:521445
HP:0002060	Abnormal cerebral morphology	57187	THOC2	OMIM:300957
HP:0002060	Abnormal cerebral morphology	57187	THOC2	ORPHA:457240
HP:0002060	Abnormal cerebral morphology	10526	IPO8	OMIM:619472
HP:0002060	Abnormal cerebral morphology	55651	NHP2	OMIM:224230
HP:0002060	Abnormal cerebral morphology	55505	NOP10	OMIM:224230
HP:0002060	Abnormal cerebral morphology	6711	SPTBN1	OMIM:619475
HP:0002060	Abnormal cerebral morphology	3643	INSR	ORPHA:508
HP:0002060	Abnormal cerebral morphology	2131	EXT1	ORPHA:502
HP:0002060	Abnormal cerebral morphology	7227	TRPS1	ORPHA:502
HP:0002060	Abnormal cerebral morphology	60676	PAPPA2	OMIM:619489
HP:0002060	Abnormal cerebral morphology	407975	MIR17HG	ORPHA:391646
HP:0002060	Abnormal cerebral morphology	55599	RNPC3	OMIM:618160
HP:0002060	Abnormal cerebral morphology	5805	PTS	OMIM:261640
HP:0002060	Abnormal cerebral morphology	7157	TP53	OMIM:618165
HP:0002060	Abnormal cerebral morphology	5557	PRIM1	OMIM:620005
HP:0002060	Abnormal cerebral morphology	54936	ADPRS	OMIM:618170
HP:0002060	Abnormal cerebral morphology	64432	MRPS25	OMIM:619025
HP:0002060	Abnormal cerebral morphology	84842	HPDL	OMIM:619026
HP:0002060	Abnormal cerebral morphology	55294	FBXW7	OMIM:620012
HP:0002060	Abnormal cerebral morphology	123263	MTFMT	OMIM:614947
HP:0002060	Abnormal cerebral morphology	80232	WDR26	ORPHA:513456
HP:0002060	Abnormal cerebral morphology	4010	LMX1B	ORPHA:495818
HP:0002060	Abnormal cerebral morphology	6812	STXBP1	ORPHA:495818
HP:0002060	Abnormal cerebral morphology	1763	DNA2	OMIM:615807
HP:0002060	Abnormal cerebral morphology	80204	FBXO11	OMIM:618089
HP:0002060	Abnormal cerebral morphology	1509	CTSD	OMIM:610127
HP:0002060	Abnormal cerebral morphology	23325	WASHC4	OMIM:615817
HP:0002060	Abnormal cerebral morphology	57531	HACE1	ORPHA:464282
HP:0002060	Abnormal cerebral morphology	57531	HACE1	OMIM:616756
HP:0002060	Abnormal cerebral morphology	7156	TOP3A	OMIM:618097
HP:0002060	Abnormal cerebral morphology	1009	CDH11	ORPHA:1299
HP:0002060	Abnormal cerebral morphology	54496	PRMT7	ORPHA:464288
HP:0002060	Abnormal cerebral morphology	54496	PRMT7	OMIM:617157
HP:0002060	Abnormal cerebral morphology	5063	PAK3	OMIM:300558
HP:0002060	Abnormal cerebral morphology	10056	FARSB	OMIM:613658
HP:0002060	Abnormal cerebral morphology	440138	ALG11	OMIM:613661
HP:0002060	Abnormal cerebral morphology	440138	ALG11	ORPHA:280071
HP:0002060	Abnormal cerebral morphology	5422	POLA1	ORPHA:163976
HP:0002060	Abnormal cerebral morphology	5422	POLA1	OMIM:301030
HP:0002060	Abnormal cerebral morphology	51067	YARS2	ORPHA:2598
HP:0002060	Abnormal cerebral morphology	219285	SAMD9L	ORPHA:2585
HP:0002060	Abnormal cerebral morphology	5648	MASP1	OMIM:257920
HP:0002060	Abnormal cerebral morphology	26115	TANC2	OMIM:618906
HP:0002060	Abnormal cerebral morphology	54101	RIPK4	ORPHA:1234
HP:0002060	Abnormal cerebral morphology	10982	MAPRE2	OMIM:616734
HP:0002060	Abnormal cerebral morphology	10982	MAPRE2	ORPHA:2505
HP:0002060	Abnormal cerebral morphology	3176	HNMT	OMIM:616739
HP:0002060	Abnormal cerebral morphology	259232	NALCN	OMIM:615419
HP:0002060	Abnormal cerebral morphology	259232	NALCN	ORPHA:371364
HP:0002060	Abnormal cerebral morphology	3759	KCNJ2	OMIM:170390
HP:0002060	Abnormal cerebral morphology	84172	POLR1B	OMIM:618939
HP:0002060	Abnormal cerebral morphology	157680	VPS13B	ORPHA:193
HP:0002060	Abnormal cerebral morphology	157680	VPS13B	OMIM:216550
HP:0002060	Abnormal cerebral morphology	81689	ISCA1	OMIM:617613
HP:0002060	Abnormal cerebral morphology	1861	TOR1A	OMIM:618947
HP:0002060	Abnormal cerebral morphology	51520	LARS1	OMIM:615438
HP:0002060	Abnormal cerebral morphology	55617	TASP1	OMIM:618950
HP:0002060	Abnormal cerebral morphology	60528	ELAC2	OMIM:615440
HP:0002060	Abnormal cerebral morphology	28957	MRPS28	OMIM:618958
HP:0002060	Abnormal cerebral morphology	7991	TUSC3	OMIM:611093
HP:0002060	Abnormal cerebral morphology	1804	DPP6	ORPHA:2514
HP:0002060	Abnormal cerebral morphology	1804	DPP6	OMIM:616311
HP:0002060	Abnormal cerebral morphology	8192	CLPP	OMIM:614129
HP:0002060	Abnormal cerebral morphology	4621	MYH3	ORPHA:2990
HP:0002060	Abnormal cerebral morphology	4621	MYH3	OMIM:178110
HP:0002060	Abnormal cerebral morphology	4621	MYH3	OMIM:193700
HP:0002060	Abnormal cerebral morphology	1146	CHRNG	ORPHA:2990
HP:0002060	Abnormal cerebral morphology	55367	PIDD1	OMIM:619827
HP:0002060	Abnormal cerebral morphology	10749	KIF1C	ORPHA:397946
HP:0002060	Abnormal cerebral morphology	60684	TRAPPC11	OMIM:615356
HP:0002060	Abnormal cerebral morphology	60684	TRAPPC11	ORPHA:869
HP:0002060	Abnormal cerebral morphology	60684	TRAPPC11	ORPHA:369840
HP:0002060	Abnormal cerebral morphology	3021	H3-3B	OMIM:619721
HP:0002060	Abnormal cerebral morphology	4056	LTC4S	OMIM:614037
HP:0002060	Abnormal cerebral morphology	72	ACTG2	ORPHA:2604
HP:0002060	Abnormal cerebral morphology	472	ATM	OMIM:208900
HP:0002060	Abnormal cerebral morphology	3781	KCNN2	OMIM:619725
HP:0002060	Abnormal cerebral morphology	2590	GALNT2	OMIM:618885
HP:0002060	Abnormal cerebral morphology	51319	RSRC1	OMIM:618402
HP:0002060	Abnormal cerebral morphology	23761	PISD	OMIM:618889
HP:0002060	Abnormal cerebral morphology	7020	TFAP2A	OMIM:113620
HP:0002060	Abnormal cerebral morphology	25930	PTPN23	OMIM:618890
HP:0002060	Abnormal cerebral morphology	339983	NAT8L	OMIM:614063
HP:0002060	Abnormal cerebral morphology	8879	SGPL1	OMIM:617575
HP:0002060	Abnormal cerebral morphology	8021	NUP214	OMIM:618426
HP:0002060	Abnormal cerebral morphology	8364	H4C3	OMIM:619758
HP:0002060	Abnormal cerebral morphology	145258	GSC	OMIM:602471
HP:0002060	Abnormal cerebral morphology	53335	BCL11A	OMIM:617101
HP:0002060	Abnormal cerebral morphology	9993	DGCR2	OMIM:192430
HP:0002060	Abnormal cerebral morphology	8220	ESS2	OMIM:192430
HP:0002060	Abnormal cerebral morphology	8214	DGCR6	OMIM:192430
HP:0002060	Abnormal cerebral morphology	54487	DGCR8	OMIM:192430
HP:0002060	Abnormal cerebral morphology	23162	MAPK8IP3	OMIM:618443
HP:0002060	Abnormal cerebral morphology	80173	IFT74	OMIM:617119
HP:0002060	Abnormal cerebral morphology	6878	TAF6	OMIM:617126
HP:0002060	Abnormal cerebral morphology	51013	EXOSC1	OMIM:619304
HP:0002060	Abnormal cerebral morphology	84706	GPT2	OMIM:616281
HP:0002060	Abnormal cerebral morphology	84706	GPT2	ORPHA:477673
HP:0002060	Abnormal cerebral morphology	54892	NCAPG2	OMIM:618460
HP:0002060	Abnormal cerebral morphology	85476	GFM1	OMIM:609060
HP:0002060	Abnormal cerebral morphology	6650	CAPN15	OMIM:619318
HP:0002060	Abnormal cerebral morphology	256297	PTF1A	OMIM:609069
HP:0002060	Abnormal cerebral morphology	29998	BICRA	OMIM:619325
HP:0002060	Abnormal cerebral morphology	8882	ZPR1	OMIM:619321
HP:0002060	Abnormal cerebral morphology	4081	MAB21L1	OMIM:618479
HP:0002060	Abnormal cerebral morphology	8869	ST3GAL5	OMIM:609056
HP:0002060	Abnormal cerebral morphology	2530	FUT8	OMIM:618005
HP:0002060	Abnormal cerebral morphology	79641	ROGDI	OMIM:226750
HP:0002060	Abnormal cerebral morphology	7965	AIMP2	OMIM:618006
HP:0002060	Abnormal cerebral morphology	8091	HMGA2	ORPHA:94063
HP:0002060	Abnormal cerebral morphology	23592	LEMD3	ORPHA:94063
HP:0002060	Abnormal cerebral morphology	26276	VPS33B	OMIM:208085
HP:0002060	Abnormal cerebral morphology	372	ARCN1	OMIM:617164
HP:0002060	Abnormal cerebral morphology	54681	P4HTM	OMIM:618493
HP:0002060	Abnormal cerebral morphology	37	ACADVL	OMIM:201475
HP:0002060	Abnormal cerebral morphology	5281	PIGF	OMIM:619356
HP:0002060	Abnormal cerebral morphology	29926	GMPPA	ORPHA:869
HP:0002060	Abnormal cerebral morphology	10681	GNB5	OMIM:617182
HP:0002060	Abnormal cerebral morphology	627	BDNF	ORPHA:893
HP:0002060	Abnormal cerebral morphology	23554	TSPAN12	ORPHA:891
HP:0002060	Abnormal cerebral morphology	79797	ZNF408	ORPHA:891
HP:0002060	Abnormal cerebral morphology	8322	FZD4	ORPHA:891
HP:0002060	Abnormal cerebral morphology	2733	GLE1	OMIM:611890
HP:0002060	Abnormal cerebral morphology	11011	TLK2	OMIM:618050
HP:0002060	Abnormal cerebral morphology	81555	YIPF5	OMIM:619278
HP:0002060	Abnormal cerebral morphology	8443	GNPAT	OMIM:222765
HP:0002060	Abnormal cerebral morphology	3899	AFF3	OMIM:619297
HP:0002060	Abnormal cerebral morphology	36	ACADSB	OMIM:610006
HP:0002060	Abnormal cerebral morphology	8546	AP3B1	OMIM:608233
HP:0002060	Abnormal cerebral morphology	51199	NIN	OMIM:614851
HP:0002060	Abnormal cerebral morphology	51199	NIN	ORPHA:319675
HP:0002060	Abnormal cerebral morphology	197257	LDHD	OMIM:245450
HP:0002060	Abnormal cerebral morphology	27286	SRPX2	ORPHA:98889
HP:0002060	Abnormal cerebral morphology	375748	ERCC6L2	OMIM:615715
HP:0002060	Abnormal cerebral morphology	2521	FUS	ORPHA:300605
HP:0002060	Abnormal cerebral morphology	10280	SIGMAR1	ORPHA:300605
HP:0002060	Abnormal cerebral morphology	10558	SPTLC1	ORPHA:300605
HP:0002060	Abnormal cerebral morphology	162417	NAGS	ORPHA:927
HP:0002060	Abnormal cerebral morphology	50628	GEMIN4	OMIM:617913
HP:0002060	Abnormal cerebral morphology	867	CBL	OMIM:613563
HP:0002060	Abnormal cerebral morphology	4173	MCM4	OMIM:609981
HP:0002060	Abnormal cerebral morphology	55187	VPS13D	OMIM:607317
HP:0002060	Abnormal cerebral morphology	10157	AASS	ORPHA:2203
HP:0002060	Abnormal cerebral morphology	79631	EFL1	OMIM:617941
HP:0002060	Abnormal cerebral morphology	5429	POLH	OMIM:278750
HP:0002060	Abnormal cerebral morphology	101929726	MYMX	ORPHA:1358
HP:0002060	Abnormal cerebral morphology	2058	EPRS1	OMIM:617951
HP:0002060	Abnormal cerebral morphology	20	ABCA2	OMIM:618808
HP:0002060	Abnormal cerebral morphology	1729	DIAPH1	OMIM:616632
HP:0002060	Abnormal cerebral morphology	175	AGA	OMIM:208400
HP:0002060	Abnormal cerebral morphology	9419	CRIPT	OMIM:615789
HP:0002060	Abnormal cerebral morphology	27010	TPK1	OMIM:614458
HP:0002060	Abnormal cerebral morphology	2584	GALK1	ORPHA:79237
HP:0002060	Abnormal cerebral morphology	11019	LIAS	OMIM:614462
HP:0002060	Abnormal cerebral morphology	4337	MOCS1	OMIM:252150
HP:0002060	Abnormal cerebral morphology	29957	SLC25A24	OMIM:612289
HP:0002060	Abnormal cerebral morphology	3704	ITPA	OMIM:616647
HP:0002060	Abnormal cerebral morphology	54870	QRICH1	OMIM:617982
HP:0002060	Abnormal cerebral morphology	6911	TBX6	ORPHA:1797
HP:0002060	Abnormal cerebral morphology	23397	NCAPH	OMIM:617985
HP:0002060	Abnormal cerebral morphology	158326	FREM1	OMIM:614485
HP:0002060	Abnormal cerebral morphology	23133	PHF8	OMIM:300263
HP:0002060	Abnormal cerebral morphology	51733	UPB1	OMIM:613161
HP:0002060	Abnormal cerebral morphology	23001	WDFY3	OMIM:617520
HP:0002060	Abnormal cerebral morphology	35	ACADS	ORPHA:26792
HP:0002060	Abnormal cerebral morphology	91452	ACBD5	OMIM:618863
HP:0002060	Abnormal cerebral morphology	51660	MPC1	OMIM:614741
HP:0002060	Abnormal cerebral morphology	10564	ARFGEF2	OMIM:608097
HP:0002060	Abnormal cerebral morphology	8818	DPM2	ORPHA:329178
HP:0002060	Abnormal cerebral morphology	22845	DOLK	ORPHA:91131
HP:0002060	Abnormal cerebral morphology	56052	ALG1	ORPHA:79327
HP:0002060	Abnormal cerebral morphology	79796	ALG9	ORPHA:79328
HP:0002060	Abnormal cerebral morphology	4247	MGAT2	ORPHA:79329
HP:0002060	Abnormal cerebral morphology	8318	CDC45	OMIM:617063
HP:0002060	Abnormal cerebral morphology	2137	EXTL3	OMIM:617425
HP:0002060	Abnormal cerebral morphology	4190	MDH1	OMIM:618959
HP:0002060	Abnormal cerebral morphology	54862	CC2D1A	OMIM:608443
HP:0002060	Abnormal cerebral morphology	2891	GRIA2	OMIM:618917
HP:0002060	Abnormal cerebral morphology	63908	NAPB	OMIM:620033
HP:0002060	Abnormal cerebral morphology	51651	PTRH2	OMIM:616263
HP:0002060	Abnormal cerebral morphology	5538	PPT1	OMIM:256730
HP:0002060	Abnormal cerebral morphology	55275	VPS53	OMIM:615851
HP:0002060	Abnormal cerebral morphology	203190	LGI3	OMIM:620007
HP:0002060	Abnormal cerebral morphology	2806	GOT2	OMIM:618721
HP:0002060	Abnormal cerebral morphology	51294	PCDH12	OMIM:251280
HP:0002060	Abnormal cerebral morphology	114034	TOE1	OMIM:614969
HP:0002060	Abnormal cerebral morphology	3913	LAMB2	OMIM:609049
HP:0002060	Abnormal cerebral morphology	55163	PNPO	OMIM:610090
HP:0002060	Abnormal cerebral morphology	10844	TUBGCP2	OMIM:618737
HP:0002060	Abnormal cerebral morphology	84342	COG8	ORPHA:95428
HP:0002060	Abnormal cerebral morphology	27445	PCLO	OMIM:608027
HP:0002060	Abnormal cerebral morphology	9343	EFTUD2	OMIM:610536
HP:0002060	Abnormal cerebral morphology	87178	PNPT1	ORPHA:319514
HP:0002060	Abnormal cerebral morphology	9342	SNAP29	OMIM:609528
HP:0002060	Abnormal cerebral morphology	9342	SNAP29	ORPHA:66631
HP:0002060	Abnormal cerebral morphology	84340	GFM2	ORPHA:565624
HP:0002060	Abnormal cerebral morphology	51259	TMEM216	OMIM:608091
HP:0002060	Abnormal cerebral morphology	79848	CSPP1	ORPHA:397715
HP:0002060	Abnormal cerebral morphology	4297	KMT2A	ORPHA:319182
HP:0002060	Abnormal cerebral morphology	2232	FDXR	ORPHA:543470
HP:0002060	Abnormal cerebral morphology	27245	AHDC1	ORPHA:412069
HP:0002060	Abnormal cerebral morphology	55904	KMT2E	OMIM:618512
HP:0002060	Abnormal cerebral morphology	3737	KCNA2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	8120	AP3B2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	523	ATP6V1A	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	10991	SLC38A3	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	51343	FZR1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2566	GABRG2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	1917	EEF1A2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2561	GABRB2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	8831	SYNGAP1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	7532	YWHAG	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	79876	UBA5	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	6328	SCN3A	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	781	CACNA2D1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2906	GRIN2D	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	10659	CELF2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	774	CACNA1B	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	1213	CLTC	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	51741	WWOX	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	23334	SZT2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	51412	ACTL6B	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	348980	HCN1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	6506	SLC1A2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2258	FGF13	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	477	ATP1A2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	3745	KCNB1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	284111	SLC13A5	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	25977	NECAP1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	16	AARS1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	6334	SCN8A	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	9568	GABBR2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2555	GABRA2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	55152	DALRD3	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	26999	CYFIP2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	4915	NTRK2	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	23097	CDK19	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	64801	ARV1	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	79947	DHDDS	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2257	FGF12	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	5530	PPP3CA	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	478	ATP1A3	ORPHA:442835
HP:0002060	Abnormal cerebral morphology	2581	GALC	ORPHA:206448
HP:0002060	Abnormal cerebral morphology	5354	PLP1	ORPHA:280229
HP:0002060	Abnormal cerebral morphology	8241	RBM10	ORPHA:2886
HP:0002060	Abnormal cerebral morphology	3423	IDS	ORPHA:217093
HP:0002060	Abnormal cerebral morphology	3476	IGBP1	OMIM:300472
HP:0002060	Abnormal cerebral morphology	3476	IGBP1	ORPHA:52055
HP:0002060	Abnormal cerebral morphology	11113	CIT	OMIM:617090
HP:0002060	Abnormal cerebral morphology	11113	CIT	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	7528	YY1	ORPHA:506358
HP:0002060	Abnormal cerebral morphology	23141	ANKLE2	OMIM:616681
HP:0002060	Abnormal cerebral morphology	23141	ANKLE2	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	23019	CNOT1	OMIM:618500
HP:0002060	Abnormal cerebral morphology	23019	CNOT1	ORPHA:556955
HP:0002060	Abnormal cerebral morphology	1024	CDK8	OMIM:618748
HP:0002060	Abnormal cerebral morphology	4774	NFIA	OMIM:613735
HP:0002060	Abnormal cerebral morphology	10992	SF3B2	OMIM:164210
HP:0002060	Abnormal cerebral morphology	2731	GLDC	OMIM:605899
HP:0002060	Abnormal cerebral morphology	275	AMT	OMIM:605899
HP:0002060	Abnormal cerebral morphology	3190	HNRNPK	ORPHA:453504
HP:0002060	Abnormal cerebral morphology	3190	HNRNPK	ORPHA:352665
HP:0002060	Abnormal cerebral morphology	55112	DYNC2I1	ORPHA:93271
HP:0002060	Abnormal cerebral morphology	57560	IFT80	ORPHA:93271
HP:0002060	Abnormal cerebral morphology	57539	WDR35	ORPHA:93271
HP:0002060	Abnormal cerebral morphology	79659	DYNC2H1	ORPHA:93271
HP:0002060	Abnormal cerebral morphology	79659	DYNC2H1	OMIM:613091
HP:0002060	Abnormal cerebral morphology	89891	DYNC2I2	ORPHA:93271
HP:0002060	Abnormal cerebral morphology	4281	MID1	OMIM:300000
HP:0002060	Abnormal cerebral morphology	4281	MID1	ORPHA:2745
HP:0002060	Abnormal cerebral morphology	116931	MED12L	OMIM:618872
HP:0002060	Abnormal cerebral morphology	9578	CDC42BPB	OMIM:619841
HP:0002060	Abnormal cerebral morphology	1630	DCC	OMIM:617542
HP:0002060	Abnormal cerebral morphology	1630	DCC	ORPHA:238722
HP:0002060	Abnormal cerebral morphology	1630	DCC	OMIM:157600
HP:0002060	Abnormal cerebral morphology	6576	SLC25A1	OMIM:618197
HP:0002060	Abnormal cerebral morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002060	Abnormal cerebral morphology	4867	NPHP1	ORPHA:220497
HP:0002060	Abnormal cerebral morphology	65062	TMEM237	ORPHA:220497
HP:0002060	Abnormal cerebral morphology	22858	CILK1	OMIM:612651
HP:0002060	Abnormal cerebral morphology	54806	AHI1	ORPHA:220493
HP:0002060	Abnormal cerebral morphology	56623	INPP5E	ORPHA:220493
HP:0002060	Abnormal cerebral morphology	153241	CEP120	ORPHA:220493
HP:0002060	Abnormal cerebral morphology	95681	CEP41	ORPHA:220493
HP:0002060	Abnormal cerebral morphology	84197	POMK	OMIM:615249
HP:0002060	Abnormal cerebral morphology	84197	POMK	ORPHA:899
HP:0002060	Abnormal cerebral morphology	84197	POMK	ORPHA:370959
HP:0002060	Abnormal cerebral morphology	26153	KIF26A	OMIM:620156
HP:0002060	Abnormal cerebral morphology	28514	DLL1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	28514	DLL1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	28514	DLL1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	28514	DLL1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	28514	DLL1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	2253	FGF8	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	2253	FGF8	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	2253	FGF8	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	2253	FGF8	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	2253	FGF8	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	7050	TGIF1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	7050	TGIF1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	7050	TGIF1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	7050	TGIF1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	7050	TGIF1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	4838	NODAL	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	4838	NODAL	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	4838	NODAL	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	4838	NODAL	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	4838	NODAL	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	51684	SUFU	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	7546	ZIC2	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	7546	ZIC2	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	7546	ZIC2	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	7546	ZIC2	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	7546	ZIC2	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	2619	GAS1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	2619	GAS1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	2619	GAS1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	2619	GAS1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	2619	GAS1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	84976	DISP1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	84976	DISP1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	84976	DISP1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	84976	DISP1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	84976	DISP1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	2736	GLI2	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	8928	FOXH1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	8928	FOXH1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	8928	FOXH1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	8928	FOXH1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	8928	FOXH1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	OMIM:610828
HP:0002060	Abnormal cerebral morphology	5727	PTCH1	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	50937	CDON	ORPHA:280200
HP:0002060	Abnormal cerebral morphology	50937	CDON	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	50937	CDON	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	50937	CDON	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	50937	CDON	OMIM:614226
HP:0002060	Abnormal cerebral morphology	50937	CDON	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	2263	FGFR2	ORPHA:87
HP:0002060	Abnormal cerebral morphology	2263	FGFR2	OMIM:123790
HP:0002060	Abnormal cerebral morphology	2263	FGFR2	OMIM:101200
HP:0002060	Abnormal cerebral morphology	56992	KIF15	ORPHA:261323
HP:0002060	Abnormal cerebral morphology	284058	KANSL1	ORPHA:363958
HP:0002060	Abnormal cerebral morphology	284058	KANSL1	ORPHA:363965
HP:0002060	Abnormal cerebral morphology	1020	CDK5	OMIM:616342
HP:0002060	Abnormal cerebral morphology	23522	KAT6B	OMIM:606170
HP:0002060	Abnormal cerebral morphology	23522	KAT6B	ORPHA:85201
HP:0002060	Abnormal cerebral morphology	5173	PDYN	OMIM:610245
HP:0002060	Abnormal cerebral morphology	55681	SCYL2	OMIM:618766
HP:0002060	Abnormal cerebral morphology	6597	SMARCA4	OMIM:614609
HP:0002060	Abnormal cerebral morphology	6597	SMARCA4	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	9401	RECQL4	OMIM:218600
HP:0002060	Abnormal cerebral morphology	4524	MTHFR	ORPHA:563612
HP:0002060	Abnormal cerebral morphology	57216	VANGL2	ORPHA:563612
HP:0002060	Abnormal cerebral morphology	171023	ASXL1	ORPHA:97297
HP:0002060	Abnormal cerebral morphology	171023	ASXL1	OMIM:605039
HP:0002060	Abnormal cerebral morphology	54872	PIGG	ORPHA:280
HP:0002060	Abnormal cerebral morphology	7469	NELFA	ORPHA:280
HP:0002060	Abnormal cerebral morphology	22872	SEC31A	OMIM:618651
HP:0002060	Abnormal cerebral morphology	57498	KIDINS220	OMIM:619501
HP:0002060	Abnormal cerebral morphology	55012	PPP2R3C	OMIM:618419
HP:0002060	Abnormal cerebral morphology	6491	STIL	ORPHA:93926
HP:0002060	Abnormal cerebral morphology	6491	STIL	ORPHA:93924
HP:0002060	Abnormal cerebral morphology	6491	STIL	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	6491	STIL	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	6491	STIL	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	51021	MRPS16	OMIM:610498
HP:0002060	Abnormal cerebral morphology	23007	PLCH1	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	10735	STAG2	ORPHA:93925
HP:0002060	Abnormal cerebral morphology	10735	STAG2	OMIM:301043
HP:0002060	Abnormal cerebral morphology	10735	STAG2	ORPHA:220386
HP:0002060	Abnormal cerebral morphology	79731	NARS2	OMIM:616239
HP:0002060	Abnormal cerebral morphology	6602	SMARCD1	OMIM:618779
HP:0002060	Abnormal cerebral morphology	6602	SMARCD1	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	55623	THUMPD1	OMIM:619989
HP:0002060	Abnormal cerebral morphology	3192	HNRNPU	ORPHA:238769
HP:0002060	Abnormal cerebral morphology	9653	HS2ST1	OMIM:619194
HP:0002060	Abnormal cerebral morphology	129563	DIS3L2	OMIM:267000
HP:0002060	Abnormal cerebral morphology	1947	EFNB1	OMIM:304110
HP:0002060	Abnormal cerebral morphology	5518	PPP2R1A	OMIM:616362
HP:0002060	Abnormal cerebral morphology	5518	PPP2R1A	ORPHA:457284
HP:0002060	Abnormal cerebral morphology	1182	CLCN3	OMIM:619512
HP:0002060	Abnormal cerebral morphology	23512	SUZ12	OMIM:618786
HP:0002060	Abnormal cerebral morphology	6608	SMO	OMIM:601707
HP:0002060	Abnormal cerebral morphology	6608	SMO	ORPHA:1553
HP:0002060	Abnormal cerebral morphology	1349	COX7B	OMIM:309801
HP:0002060	Abnormal cerebral morphology	1349	COX7B	OMIM:300887
HP:0002060	Abnormal cerebral morphology	1349	COX7B	ORPHA:2556
HP:0002060	Abnormal cerebral morphology	3052	HCCS	OMIM:309801
HP:0002060	Abnormal cerebral morphology	3052	HCCS	ORPHA:2556
HP:0002060	Abnormal cerebral morphology	54539	NDUFB11	OMIM:309801
HP:0002060	Abnormal cerebral morphology	54539	NDUFB11	ORPHA:2556
HP:0002060	Abnormal cerebral morphology	54539	NDUFB11	OMIM:300952
HP:0002060	Abnormal cerebral morphology	55773	TBC1D23	OMIM:617695
HP:0002060	Abnormal cerebral morphology	5626	PROP1	ORPHA:226307
HP:0002060	Abnormal cerebral morphology	5626	PROP1	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	89884	LHX4	ORPHA:226307
HP:0002060	Abnormal cerebral morphology	89884	LHX4	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	8022	LHX3	ORPHA:226307
HP:0002060	Abnormal cerebral morphology	5449	POU1F1	ORPHA:226307
HP:0002060	Abnormal cerebral morphology	5449	POU1F1	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	8820	HESX1	ORPHA:226307
HP:0002060	Abnormal cerebral morphology	8820	HESX1	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	8820	HESX1	OMIM:182230
HP:0002060	Abnormal cerebral morphology	8820	HESX1	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	4519	MT-CYB	ORPHA:137675
HP:0002060	Abnormal cerebral morphology	5828	PEX2	OMIM:614866
HP:0002060	Abnormal cerebral morphology	6558	SLC12A2	OMIM:619083
HP:0002060	Abnormal cerebral morphology	10236	HNRNPR	OMIM:620073
HP:0002060	Abnormal cerebral morphology	4036	LRP2	OMIM:222448
HP:0002060	Abnormal cerebral morphology	3170	FOXA2	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	5015	OTX2	ORPHA:95494
HP:0002060	Abnormal cerebral morphology	5015	OTX2	ORPHA:990
HP:0002060	Abnormal cerebral morphology	5015	OTX2	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	83479	DDX59	ORPHA:2919
HP:0002060	Abnormal cerebral morphology	83479	DDX59	OMIM:174300
HP:0002060	Abnormal cerebral morphology	11041	B4GAT1	OMIM:615287
HP:0002060	Abnormal cerebral morphology	11041	B4GAT1	ORPHA:899
HP:0002060	Abnormal cerebral morphology	113179	ADAT3	OMIM:615286
HP:0002060	Abnormal cerebral morphology	113179	ADAT3	ORPHA:363528
HP:0002060	Abnormal cerebral morphology	8481	OFD1	OMIM:311200
HP:0002060	Abnormal cerebral morphology	8481	OFD1	ORPHA:2750
HP:0002060	Abnormal cerebral morphology	10472	ZBTB18	OMIM:612337
HP:0002060	Abnormal cerebral morphology	57492	ARID1B	ORPHA:251056
HP:0002060	Abnormal cerebral morphology	57492	ARID1B	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	2271	FH	OMIM:606812
HP:0002060	Abnormal cerebral morphology	63895	PIEZO2	OMIM:248700
HP:0002060	Abnormal cerebral morphology	63895	PIEZO2	ORPHA:2461
HP:0002060	Abnormal cerebral morphology	2239	GPC4	ORPHA:373
HP:0002060	Abnormal cerebral morphology	2239	GPC4	OMIM:312870
HP:0002060	Abnormal cerebral morphology	2719	GPC3	ORPHA:373
HP:0002060	Abnormal cerebral morphology	2719	GPC3	OMIM:312870
HP:0002060	Abnormal cerebral morphology	197258	FCSK	OMIM:618324
HP:0002060	Abnormal cerebral morphology	10463	SLC30A9	OMIM:617595
HP:0002060	Abnormal cerebral morphology	8565	YARS1	OMIM:619418
HP:0002060	Abnormal cerebral morphology	2678	GGT1	OMIM:231950
HP:0002060	Abnormal cerebral morphology	64919	BCL11B	OMIM:617237
HP:0002060	Abnormal cerebral morphology	11023	VAX1	OMIM:614402
HP:0002060	Abnormal cerebral morphology	257	ALX3	OMIM:136760
HP:0002060	Abnormal cerebral morphology	51645	PPIL1	OMIM:619301
HP:0002060	Abnormal cerebral morphology	51362	CDC40	OMIM:619302
HP:0002060	Abnormal cerebral morphology	8621	CDK13	OMIM:617360
HP:0002060	Abnormal cerebral morphology	5881	RAC3	OMIM:618577
HP:0002060	Abnormal cerebral morphology	60529	ALX4	ORPHA:228390
HP:0002060	Abnormal cerebral morphology	55280	CWF19L1	ORPHA:453521
HP:0002060	Abnormal cerebral morphology	3897	L1CAM	ORPHA:2466
HP:0002060	Abnormal cerebral morphology	3897	L1CAM	OMIM:303350
HP:0002060	Abnormal cerebral morphology	3897	L1CAM	OMIM:307000
HP:0002060	Abnormal cerebral morphology	3897	L1CAM	ORPHA:2182
HP:0002060	Abnormal cerebral morphology	9851	KIAA0753	OMIM:617127
HP:0002060	Abnormal cerebral morphology	9990	SLC12A6	ORPHA:1496
HP:0002060	Abnormal cerebral morphology	9990	SLC12A6	OMIM:218000
HP:0002060	Abnormal cerebral morphology	164	AP1G1	OMIM:619548
HP:0002060	Abnormal cerebral morphology	1801	DPH1	ORPHA:459061
HP:0002060	Abnormal cerebral morphology	22827	PUF60	ORPHA:508498
HP:0002060	Abnormal cerebral morphology	5888	RAD51	ORPHA:238722
HP:0002060	Abnormal cerebral morphology	10126	DNAL4	ORPHA:238722
HP:0002060	Abnormal cerebral morphology	9423	NTN1	ORPHA:238722
HP:0002060	Abnormal cerebral morphology	56896	DPYSL5	OMIM:619435
HP:0002060	Abnormal cerebral morphology	2879	GPX4	ORPHA:93317
HP:0002060	Abnormal cerebral morphology	5396	PRRX1	OMIM:202650
HP:0002060	Abnormal cerebral morphology	5396	PRRX1	ORPHA:990
HP:0002060	Abnormal cerebral morphology	7545	ZIC1	OMIM:616602
HP:0002060	Abnormal cerebral morphology	7545	ZIC1	OMIM:618736
HP:0002060	Abnormal cerebral morphology	7473	WNT3	ORPHA:3301
HP:0002060	Abnormal cerebral morphology	340419	RSPO2	ORPHA:3301
HP:0002060	Abnormal cerebral morphology	8050	PDHX	ORPHA:255182
HP:0002060	Abnormal cerebral morphology	55593	OTUD5	OMIM:301056
HP:0002060	Abnormal cerebral morphology	7707	ZNF148	OMIM:617260
HP:0002060	Abnormal cerebral morphology	1436	CSF1R	OMIM:618476
HP:0002060	Abnormal cerebral morphology	5649	RELN	ORPHA:89844
HP:0002060	Abnormal cerebral morphology	10300	KATNB1	ORPHA:89844
HP:0002060	Abnormal cerebral morphology	23030	KDM4B	OMIM:619320
HP:0002060	Abnormal cerebral morphology	5160	PDHA1	OMIM:312170
HP:0002060	Abnormal cerebral morphology	5160	PDHA1	ORPHA:79243
HP:0002060	Abnormal cerebral morphology	1806	DPYD	OMIM:274270
HP:0002060	Abnormal cerebral morphology	55215	FANCI	OMIM:609053
HP:0002060	Abnormal cerebral morphology	27185	DISC1	ORPHA:171703
HP:0002060	Abnormal cerebral morphology	8320	EOMES	ORPHA:171703
HP:0002060	Abnormal cerebral morphology	79133	NDUFAF5	OMIM:618238
HP:0002060	Abnormal cerebral morphology	55997	CFC1	OMIM:605376
HP:0002060	Abnormal cerebral morphology	2218	FKTN	OMIM:236670
HP:0002060	Abnormal cerebral morphology	2218	FKTN	ORPHA:899
HP:0002060	Abnormal cerebral morphology	2218	FKTN	OMIM:253800
HP:0002060	Abnormal cerebral morphology	84892	POMGNT2	ORPHA:899
HP:0002060	Abnormal cerebral morphology	148789	B3GALNT2	ORPHA:899
HP:0002060	Abnormal cerebral morphology	729920	CRPPA	ORPHA:899
HP:0002060	Abnormal cerebral morphology	10329	RXYLT1	ORPHA:899
HP:0002060	Abnormal cerebral morphology	1605	DAG1	ORPHA:899
HP:0002060	Abnormal cerebral morphology	55624	POMGNT1	ORPHA:899
HP:0002060	Abnormal cerebral morphology	55624	POMGNT1	ORPHA:370959
HP:0002060	Abnormal cerebral morphology	6657	SOX2	ORPHA:77298
HP:0002060	Abnormal cerebral morphology	6657	SOX2	OMIM:206900
HP:0002060	Abnormal cerebral morphology	6657	SOX2	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	4784	NFIX	OMIM:602535
HP:0002060	Abnormal cerebral morphology	63925	ZNF335	OMIM:615095
HP:0002060	Abnormal cerebral morphology	2657	GDF1	OMIM:208530
HP:0002060	Abnormal cerebral morphology	85358	SHANK3	ORPHA:48652
HP:0002060	Abnormal cerebral morphology	6598	SMARCB1	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	6659	SOX4	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	8289	ARID1A	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	5977	DPF2	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	6601	SMARCC2	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	196528	ARID2	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	6605	SMARCE1	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	6664	SOX11	ORPHA:1465
HP:0002060	Abnormal cerebral morphology	5831	PYCR1	OMIM:612940
HP:0002060	Abnormal cerebral morphology	1063	CENPF	OMIM:243605
HP:0002060	Abnormal cerebral morphology	9361	LONP1	ORPHA:79243
HP:0002060	Abnormal cerebral morphology	1000	CDH2	OMIM:618929
HP:0002060	Abnormal cerebral morphology	1781	DYNC1I2	OMIM:618492
HP:0002060	Abnormal cerebral morphology	1583	CYP11A1	ORPHA:289548
HP:0002060	Abnormal cerebral morphology	1583	CYP11A1	ORPHA:168558
HP:0002060	Abnormal cerebral morphology	1641	DCX	OMIM:300067
HP:0002060	Abnormal cerebral morphology	7161	TP73	OMIM:619466
HP:0002060	Abnormal cerebral morphology	2009	EML1	OMIM:600348
HP:0002060	Abnormal cerebral morphology	5395	PMS2	OMIM:619101
HP:0002060	Abnormal cerebral morphology	4990	SIX6	OMIM:206900
HP:0002060	Abnormal cerebral morphology	2313	FLI1	ORPHA:2308
HP:0002060	Abnormal cerebral morphology	60386	SLC25A19	ORPHA:99742
HP:0002060	Abnormal cerebral morphology	64840	PORCN	OMIM:305600
HP:0002060	Abnormal cerebral morphology	2290	FOXG1	ORPHA:261144
HP:0002060	Abnormal cerebral morphology	8092	ALX1	ORPHA:306542
HP:0002060	Abnormal cerebral morphology	28962	OSTM1	ORPHA:85179
HP:0002060	Abnormal cerebral morphology	348180	CTU2	OMIM:618142
HP:0002060	Abnormal cerebral morphology	57545	CC2D2A	OMIM:619111
HP:0002060	Abnormal cerebral morphology	1387	CREBBP	OMIM:180849
HP:0002060	Abnormal cerebral morphology	2033	EP300	OMIM:180849
HP:0002060	Abnormal cerebral morphology	9968	MED12	OMIM:309520
HP:0002060	Abnormal cerebral morphology	5162	PDHB	ORPHA:255138
HP:0002060	Abnormal cerebral morphology	5162	PDHB	OMIM:614111
HP:0002060	Abnormal cerebral morphology	1718	DHCR24	ORPHA:35107
HP:0002060	Abnormal cerebral morphology	374879	ZNF699	OMIM:619488
HP:0002060	Abnormal cerebral morphology	55640	FLVCR2	OMIM:225790
HP:0002060	Abnormal cerebral morphology	91875	TTC5	OMIM:619244
HP:0002060	Abnormal cerebral morphology	80210	ARMC9	OMIM:617622
HP:0002060	Abnormal cerebral morphology	6299	SALL1	ORPHA:857
HP:0002060	Abnormal cerebral morphology	51339	DACT1	ORPHA:857
HP:0002060	Abnormal cerebral morphology	118924	FRA10AC1	OMIM:620113
HP:0002060	Abnormal cerebral morphology	113246	C12orf57	OMIM:218340
HP:0002060	Abnormal cerebral morphology	1759	DNM1	OMIM:620352
HP:0002060	Abnormal cerebral morphology	55691	FRMD4A	ORPHA:466688
HP:0002060	Abnormal cerebral morphology	1376	CPT2	OMIM:608836
HP:0002060	Abnormal cerebral morphology	1376	CPT2	ORPHA:228308
HP:0002060	Abnormal cerebral morphology	259266	ASPM	OMIM:608716
HP:0002060	Abnormal cerebral morphology	259266	ASPM	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	2177	FANCD2	OMIM:227646
HP:0002060	Abnormal cerebral morphology	84823	LMNB2	OMIM:616540
HP:0002060	Abnormal cerebral morphology	4781	NFIB	OMIM:618286
HP:0002060	Abnormal cerebral morphology	8777	MPDZ	OMIM:615219
HP:0002060	Abnormal cerebral morphology	5430	POLR2A	OMIM:618603
HP:0002060	Abnormal cerebral morphology	4292	MLH1	OMIM:276300
HP:0002060	Abnormal cerebral morphology	9276	COPB2	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	22995	CEP152	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	284403	WDR62	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	55262	TRAPPC14	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	163786	SASS6	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	84879	MFSD2A	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	4176	MCM7	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	80254	CEP63	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	29081	METTL5	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	23310	NCAPD3	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	55755	CDK5RAP2	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	79648	MCPH1	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	7109	TRAPPC10	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	1911	PHC1	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	6884	TAF13	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	9662	CEP135	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	55835	CENPJ	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	57082	KNL1	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	1021	CDK6	ORPHA:2512
HP:0002060	Abnormal cerebral morphology	18	ABAT	OMIM:613163
HP:0002060	Abnormal cerebral morphology	8449	DHX16	OMIM:618733
HP:0002060	Abnormal cerebral morphology	128674	PROKR2	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	6658	SOX3	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	9915	ARNT2	ORPHA:3157
HP:0002060	Abnormal cerebral morphology	26275	HIBCH	OMIM:250620
HP:0002060	Abnormal cerebral morphology	58499	ZNF462	OMIM:618619
HP:0002060	Abnormal cerebral morphology	23417	MLYCD	OMIM:248360
HP:0002060	Abnormal cerebral morphology	10716	TBR1	OMIM:606053
HP:0002060	Abnormal cerebral morphology	9508	ADAMTS3	ORPHA:2136
HP:0002060	Abnormal cerebral morphology	147372	CCBE1	ORPHA:2136
HP:0002060	Abnormal cerebral morphology	147372	CCBE1	OMIM:235510
HP:0002060	Abnormal cerebral morphology	84978	FRMD5	OMIM:620094
HP:0002060	Abnormal cerebral morphology	1496	CTNNA2	OMIM:618174
HP:0002060	Abnormal cerebral morphology	2108	ETFA	OMIM:231680
HP:0002060	Abnormal cerebral morphology	2109	ETFB	OMIM:231680
HP:0002060	Abnormal cerebral morphology	2110	ETFDH	OMIM:231680
HP:0002060	Abnormal cerebral morphology	6748	SSR4	ORPHA:370927
HP:0002060	Abnormal cerebral morphology	2146	EZH2	OMIM:277590
HP:0002060	Abnormal cerebral morphology	55790	CSGALNACT1	OMIM:618870
HP:0002060	Abnormal cerebral morphology	10765	KDM5B	OMIM:618109
HP:0002060	Abnormal cerebral morphology	6938	TCF12	OMIM:615314
HP:0002060	Abnormal cerebral morphology	139285	AMER1	OMIM:300373
HP:0002060	Abnormal cerebral morphology	79068	FTO	OMIM:612938
HP:0002060	Abnormal cerebral morphology	412	STS	ORPHA:281090
HP:0002060	Abnormal cerebral morphology	6611	SMS	ORPHA:3063
HP:0002060	Abnormal cerebral morphology	51256	TBC1D7	OMIM:248000
HP:0002060	Abnormal cerebral morphology	8738	CRADD	OMIM:614499
HP:0002060	Abnormal cerebral morphology	5274	SERPINI1	OMIM:604218
HP:0002060	Abnormal cerebral morphology	199857	ALG14	OMIM:619036
HP:0002060	Abnormal cerebral morphology	162	AP1B1	OMIM:242150
HP:0002060	Abnormal cerebral morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0002060	Abnormal cerebral morphology	54476	RNF216	OMIM:212840
HP:0002060	Abnormal cerebral morphology	7345	UCHL1	OMIM:615491
HP:0002060	Abnormal cerebral morphology	5105	PCK1	OMIM:261680
HP:0002060	Abnormal cerebral morphology	55037	PTCD3	OMIM:619057
HP:0002060	Abnormal cerebral morphology	8772	FADD	OMIM:613759
HP:0002060	Abnormal cerebral morphology	8772	FADD	ORPHA:306550
HP:0002060	Abnormal cerebral morphology	5095	PCCA	OMIM:606054
HP:0002060	Abnormal cerebral morphology	5096	PCCB	OMIM:606054
HP:0002060	Abnormal cerebral morphology	1327	COX4I1	OMIM:619060
HP:0002060	Abnormal cerebral morphology	5833	PCYT2	OMIM:618770
HP:0002060	Abnormal cerebral morphology	55775	TDP1	OMIM:607250
HP:0002060	Abnormal cerebral morphology	1201	CLN3	OMIM:204200
HP:0002060	Abnormal cerebral morphology	5826	ABCD4	OMIM:614857
HP:0002060	Abnormal cerebral morphology	51604	PIGT	OMIM:615398
HP:0002060	Abnormal cerebral morphology	10531	PITRM1	OMIM:619405
HP:0002060	Abnormal cerebral morphology	256471	MFSD8	OMIM:610951
HP:0002060	Abnormal cerebral morphology	339855	KY	ORPHA:496689
HP:0002060	Abnormal cerebral morphology	23189	KANK1	OMIM:612900
HP:0002060	Abnormal cerebral morphology	6314	ATXN7	ORPHA:94147
HP:0002060	Abnormal cerebral morphology	26100	WIPI2	OMIM:618453
HP:0002060	Abnormal cerebral morphology	7167	TPI1	OMIM:615512
HP:0002060	Abnormal cerebral morphology	132	ADK	OMIM:614300
HP:0002060	Abnormal cerebral morphology	57520	HECW2	OMIM:617268
HP:0002060	Abnormal cerebral morphology	54822	TRPM7	OMIM:105500
HP:0002060	Abnormal cerebral morphology	1760	DMPK	OMIM:160900
HP:0002060	Abnormal cerebral morphology	23732	FRRS1L	OMIM:616981
HP:0002060	Abnormal cerebral morphology	29940	DSE	OMIM:615539
HP:0002060	Abnormal cerebral morphology	5611	DNAJC3	OMIM:616192
HP:0002060	Abnormal cerebral morphology	5611	DNAJC3	ORPHA:445062
HP:0002060	Abnormal cerebral morphology	84896	ATAD1	OMIM:618011
HP:0002060	Abnormal cerebral morphology	4548	MTR	OMIM:250940
HP:0002060	Abnormal cerebral morphology	51095	TRNT1	OMIM:616084
HP:0002060	Abnormal cerebral morphology	2517	FUCA1	OMIM:230000
HP:0002060	Abnormal cerebral morphology	203228	C9orf72	OMIM:105550
HP:0002060	Abnormal cerebral morphology	1200	TPP1	OMIM:204500
HP:0002060	Abnormal cerebral morphology	617	BCS1L	OMIM:124000
HP:0002060	Abnormal cerebral morphology	84231	TRAF7	OMIM:618164
HP:0002060	Abnormal cerebral morphology	26503	SLC17A5	OMIM:269920
HP:0002060	Abnormal cerebral morphology	9197	SLC33A1	OMIM:614482
HP:0002060	Abnormal cerebral morphology	2138	EYA1	OMIM:113650
HP:0002060	Abnormal cerebral morphology	6495	SIX1	OMIM:113650
HP:0002060	Abnormal cerebral morphology	8036	SHOC2	OMIM:607721
HP:0002060	Abnormal cerebral morphology	6844	VAMP2	OMIM:618760
HP:0002060	Abnormal cerebral morphology	57178	ZMIZ1	OMIM:618659
HP:0002060	Abnormal cerebral morphology	9533	POLR1C	OMIM:616494
HP:0002060	Abnormal cerebral morphology	253959	RALGAPA1	OMIM:618797
HP:0002060	Abnormal cerebral morphology	51098	IFT52	OMIM:617102
HP:0002060	Abnormal cerebral morphology	4849	CNOT3	OMIM:618672
HP:0002060	Abnormal cerebral morphology	7841	MOGS	ORPHA:79330
HP:0002060	Abnormal cerebral morphology	7841	MOGS	OMIM:606056
HP:0002060	Abnormal cerebral morphology	51062	ATL1	OMIM:182600
HP:0002060	Abnormal cerebral morphology	7040	TGFB1	OMIM:618213
HP:0002060	Abnormal cerebral morphology	2671	GFER	ORPHA:330054
HP:0002060	Abnormal cerebral morphology	11160	ERLIN2	ORPHA:209951
HP:0002060	Abnormal cerebral morphology	11160	ERLIN2	OMIM:611225
HP:0002060	Abnormal cerebral morphology	128869	PIGU	OMIM:618590
HP:0002060	Abnormal cerebral morphology	5631	PRPS1	ORPHA:423479
HP:0002060	Abnormal cerebral morphology	2560	GABRB1	OMIM:617153
HP:0002060	Abnormal cerebral morphology	8883	NAE1	OMIM:620210
HP:0002060	Abnormal cerebral morphology	50801	KCNK4	OMIM:618381
HP:0002060	Abnormal cerebral morphology	2571	GAD1	OMIM:619124
HP:0002060	Abnormal cerebral morphology	285590	SH3PXD2B	OMIM:249420
HP:0002060	Abnormal cerebral morphology	8911	CACNA1I	OMIM:620114
HP:0002060	Abnormal cerebral morphology	10682	EBP	ORPHA:401973
HP:0002060	Abnormal cerebral morphology	6095	RORA	OMIM:618060
HP:0002060	Abnormal cerebral morphology	80222	TARS2	OMIM:615918
HP:0002060	Abnormal cerebral morphology	501	ALDH7A1	ORPHA:3006
HP:0002060	Abnormal cerebral morphology	80856	LNPK	OMIM:618090
HP:0002060	Abnormal cerebral morphology	2752	GLUL	OMIM:610015
HP:0002060	Abnormal cerebral morphology	7025	NR2F1	ORPHA:401777
HP:0002060	Abnormal cerebral morphology	79753	SNIP1	OMIM:614501
HP:0002060	Abnormal cerebral morphology	51244	CCDC174	OMIM:616816
HP:0002060	Abnormal cerebral morphology	51322	WAC	ORPHA:284169
HP:0002060	Abnormal cerebral morphology	51322	WAC	OMIM:616708
HP:0002060	Abnormal cerebral morphology	200403	VWA3B	OMIM:616948
HP:0002060	Abnormal cerebral morphology	85021	REPS1	OMIM:617916
HP:0002060	Abnormal cerebral morphology	57165	GJC2	OMIM:613206
HP:0002060	Abnormal cerebral morphology	23291	FBXW11	OMIM:618914
HP:0002060	Abnormal cerebral morphology	51218	GLRX5	OMIM:616859
HP:0002060	Abnormal cerebral morphology	23511	NUP188	OMIM:618804
HP:0002060	Abnormal cerebral morphology	340075	ARSI	ORPHA:401815
HP:0002060	Abnormal cerebral morphology	5455	POU3F3	OMIM:618604
HP:0002060	Abnormal cerebral morphology	51663	ZFR	ORPHA:401840
HP:0002060	Abnormal cerebral morphology	1468	SLC25A10	OMIM:618972
HP:0002060	Abnormal cerebral morphology	5307	PITX1	OMIM:119800
HP:0002060	Abnormal cerebral morphology	55331	ACER3	OMIM:617762
HP:0002060	Abnormal cerebral morphology	84148	KAT8	OMIM:618974
HP:0002060	Abnormal cerebral morphology	25792	CIZ1	ORPHA:420492
HP:0002060	Abnormal cerebral morphology	4702	NDUFA8	OMIM:619272
HP:0002060	Abnormal cerebral morphology	773	CACNA1A	OMIM:183086
HP:0002060	Abnormal cerebral morphology	1183	CLCN4	OMIM:300114
HP:0002060	Abnormal cerebral morphology	1183	CLCN4	ORPHA:485350
HP:0002060	Abnormal cerebral morphology	5393	EXOSC9	OMIM:618065
HP:0002060	Abnormal cerebral morphology	5393	EXOSC9	ORPHA:2254
HP:0002060	Abnormal cerebral morphology	23556	PIGN	ORPHA:2059
HP:0002060	Abnormal cerebral morphology	400916	CHCHD10	OMIM:615911
HP:0002060	Abnormal cerebral morphology	673	BRAF	OMIM:115150
HP:0002060	Abnormal cerebral morphology	673	BRAF	ORPHA:1340
HP:0002060	Abnormal cerebral morphology	54820	NDE1	ORPHA:2177
HP:0002060	Abnormal cerebral morphology	7360	UGP2	OMIM:618744
HP:0002060	Abnormal cerebral morphology	145173	B3GLCT	ORPHA:709
HP:0002060	Abnormal cerebral morphology	5457	POU4F1	ORPHA:314647
HP:0002060	Abnormal cerebral morphology	23261	CAMTA1	ORPHA:314647
HP:0002060	Abnormal cerebral morphology	23261	CAMTA1	OMIM:614756
HP:0002060	Abnormal cerebral morphology	10667	FARS2	OMIM:614946
HP:0002060	Abnormal cerebral morphology	8496	PPFIBP1	OMIM:620024
HP:0002060	Abnormal cerebral morphology	23126	POGZ	ORPHA:468678
HP:0002060	Abnormal cerebral morphology	5521	PPP2R2B	OMIM:604326
HP:0002060	Abnormal cerebral morphology	6687	SPG7	ORPHA:99013
HP:0002060	Abnormal cerebral morphology	6687	SPG7	OMIM:607259
HP:0002060	Abnormal cerebral morphology	4552	MTRR	OMIM:236270
HP:0002060	Abnormal cerebral morphology	54209	TREM2	OMIM:618193
HP:0002060	Abnormal cerebral morphology	54209	TREM2	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	54209	TREM2	ORPHA:2770
HP:0002060	Abnormal cerebral morphology	4125	MAN2B1	ORPHA:309282
HP:0002060	Abnormal cerebral morphology	4125	MAN2B1	ORPHA:309288
HP:0002060	Abnormal cerebral morphology	4125	MAN2B1	OMIM:248500
HP:0002060	Abnormal cerebral morphology	51112	TRAPPC12	ORPHA:500144
HP:0002060	Abnormal cerebral morphology	51112	TRAPPC12	OMIM:617669
HP:0002060	Abnormal cerebral morphology	54968	TMEM70	ORPHA:1194
HP:0002060	Abnormal cerebral morphology	3020	H3-3A	OMIM:619720
HP:0002060	Abnormal cerebral morphology	8722	CTSF	OMIM:615362
HP:0002060	Abnormal cerebral morphology	387787	LIPT2	OMIM:617668
HP:0002060	Abnormal cerebral morphology	84520	GON7	OMIM:619603
HP:0002060	Abnormal cerebral morphology	23431	AP4E1	OMIM:613744
HP:0002060	Abnormal cerebral morphology	23431	AP4E1	ORPHA:280763
HP:0002060	Abnormal cerebral morphology	57582	KCNT1	OMIM:614959
HP:0002060	Abnormal cerebral morphology	10978	CLP1	OMIM:615803
HP:0002060	Abnormal cerebral morphology	79158	GNPTAB	OMIM:252500
HP:0002060	Abnormal cerebral morphology	271	AMPD2	OMIM:615809
HP:0002060	Abnormal cerebral morphology	5189	PEX1	OMIM:214100
HP:0002060	Abnormal cerebral morphology	55650	PIGV	OMIM:239300
HP:0002060	Abnormal cerebral morphology	2192	FBLN1	ORPHA:404451
HP:0002060	Abnormal cerebral morphology	348	APOE	OMIM:607822
HP:0002060	Abnormal cerebral morphology	5663	PSEN1	OMIM:607822
HP:0002060	Abnormal cerebral morphology	5663	PSEN1	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	51360	MBTPS2	ORPHA:2273
HP:0002060	Abnormal cerebral morphology	3074	HEXB	ORPHA:309155
HP:0002060	Abnormal cerebral morphology	10134	BCAP31	ORPHA:369939
HP:0002060	Abnormal cerebral morphology	5832	ALDH18A1	OMIM:616586
HP:0002060	Abnormal cerebral morphology	5832	ALDH18A1	ORPHA:447760
HP:0002060	Abnormal cerebral morphology	7343	UBTF	OMIM:617672
HP:0002060	Abnormal cerebral morphology	91869	RFT1	ORPHA:244310
HP:0002060	Abnormal cerebral morphology	9326	ZNHIT3	ORPHA:2836
HP:0002060	Abnormal cerebral morphology	547	KIF1A	ORPHA:2836
HP:0002060	Abnormal cerebral morphology	2260	FGFR1	ORPHA:2396
HP:0002060	Abnormal cerebral morphology	3845	KRAS	ORPHA:2396
HP:0002060	Abnormal cerebral morphology	3845	KRAS	ORPHA:1340
HP:0002060	Abnormal cerebral morphology	2018	EMX2	OMIM:269160
HP:0002060	Abnormal cerebral morphology	6496	SIX3	OMIM:269160
HP:0002060	Abnormal cerebral morphology	6469	SHH	OMIM:269160
HP:0002060	Abnormal cerebral morphology	546	ATRX	ORPHA:847
HP:0002060	Abnormal cerebral morphology	5191	PEX7	OMIM:215100
HP:0002060	Abnormal cerebral morphology	2332	FMR1	ORPHA:93256
HP:0002060	Abnormal cerebral morphology	2332	FMR1	ORPHA:908
HP:0002060	Abnormal cerebral morphology	23400	ATP13A2	ORPHA:513436
HP:0002060	Abnormal cerebral morphology	23400	ATP13A2	ORPHA:306674
HP:0002060	Abnormal cerebral morphology	23400	ATP13A2	OMIM:617225
HP:0002060	Abnormal cerebral morphology	652	BMP4	OMIM:607932
HP:0002060	Abnormal cerebral morphology	57231	SNX14	OMIM:616354
HP:0002060	Abnormal cerebral morphology	132158	GLYCTK	OMIM:220120
HP:0002060	Abnormal cerebral morphology	10347	ABCA7	OMIM:608907
HP:0002060	Abnormal cerebral morphology	10347	ABCA7	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	246243	RNASEH1	OMIM:616479
HP:0002060	Abnormal cerebral morphology	80208	SPG11	ORPHA:2822
HP:0002060	Abnormal cerebral morphology	80208	SPG11	OMIM:604360
HP:0002060	Abnormal cerebral morphology	51761	ATP8A2	OMIM:615268
HP:0002060	Abnormal cerebral morphology	23230	VPS13A	ORPHA:2388
HP:0002060	Abnormal cerebral morphology	4582	MUC1	OMIM:174000
HP:0002060	Abnormal cerebral morphology	9487	PIGL	ORPHA:3474
HP:0002060	Abnormal cerebral morphology	57338	JPH3	ORPHA:98934
HP:0002060	Abnormal cerebral morphology	57338	JPH3	OMIM:606438
HP:0002060	Abnormal cerebral morphology	23265	EXOC7	OMIM:619072
HP:0002060	Abnormal cerebral morphology	699	BUB1	OMIM:620183
HP:0002060	Abnormal cerebral morphology	1798	DPAGT1	ORPHA:86309
HP:0002060	Abnormal cerebral morphology	3028	HSD17B10	OMIM:300438
HP:0002060	Abnormal cerebral morphology	55699	IARS2	OMIM:616007
HP:0002060	Abnormal cerebral morphology	54902	TTC19	OMIM:615157
HP:0002060	Abnormal cerebral morphology	6804	STX1A	ORPHA:904
HP:0002060	Abnormal cerebral morphology	7461	CLIP2	ORPHA:904
HP:0002060	Abnormal cerebral morphology	84277	DNAJC30	ORPHA:904
HP:0002060	Abnormal cerebral morphology	8468	FKBP6	ORPHA:904
HP:0002060	Abnormal cerebral morphology	5982	RFC2	ORPHA:904
HP:0002060	Abnormal cerebral morphology	2969	GTF2I	ORPHA:904
HP:0002060	Abnormal cerebral morphology	3984	LIMK1	ORPHA:904
HP:0002060	Abnormal cerebral morphology	9569	GTF2IRD1	ORPHA:904
HP:0002060	Abnormal cerebral morphology	155382	VPS37D	ORPHA:904
HP:0002060	Abnormal cerebral morphology	155368	METTL27	ORPHA:904
HP:0002060	Abnormal cerebral morphology	114049	BUD23	ORPHA:904
HP:0002060	Abnormal cerebral morphology	7458	EIF4H	ORPHA:904
HP:0002060	Abnormal cerebral morphology	84163	GTF2IRD2	ORPHA:904
HP:0002060	Abnormal cerebral morphology	9275	BCL7B	ORPHA:904
HP:0002060	Abnormal cerebral morphology	26608	TBL2	ORPHA:904
HP:0002060	Abnormal cerebral morphology	653361	NCF1	ORPHA:904
HP:0002060	Abnormal cerebral morphology	135886	TMEM270	ORPHA:904
HP:0002060	Abnormal cerebral morphology	51085	MLXIPL	ORPHA:904
HP:0002060	Abnormal cerebral morphology	9031	BAZ1B	ORPHA:904
HP:0002060	Abnormal cerebral morphology	11340	EXOSC8	ORPHA:2254
HP:0002060	Abnormal cerebral morphology	11340	EXOSC8	OMIM:616081
HP:0002060	Abnormal cerebral morphology	51010	EXOSC3	ORPHA:2254
HP:0002060	Abnormal cerebral morphology	7443	VRK1	ORPHA:2254
HP:0002060	Abnormal cerebral morphology	7443	VRK1	OMIM:607596
HP:0002060	Abnormal cerebral morphology	91137	SLC25A46	ORPHA:2254
HP:0002060	Abnormal cerebral morphology	4191	MDH2	OMIM:617339
HP:0002060	Abnormal cerebral morphology	5590	PRKCZ	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	2563	GABRD	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	23013	SPEN	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	8510	MMP23B	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	7798	LUZP1	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	6497	SKI	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	10630	PDPN	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	3339	HSPG2	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	10277	UBE4B	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	8514	KCNAB2	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	473	RERE	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	63976	PRDM16	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	54897	CASZ1	ORPHA:1606
HP:0002060	Abnormal cerebral morphology	493856	CISD2	ORPHA:3463
HP:0002060	Abnormal cerebral morphology	7466	WFS1	ORPHA:3463
HP:0002060	Abnormal cerebral morphology	6638	SNRPN	OMIM:105830
HP:0002060	Abnormal cerebral morphology	6638	SNRPN	ORPHA:177907
HP:0002060	Abnormal cerebral morphology	7337	UBE3A	OMIM:105830
HP:0002060	Abnormal cerebral morphology	1859	DYRK1A	ORPHA:464311
HP:0002060	Abnormal cerebral morphology	1859	DYRK1A	ORPHA:268261
HP:0002060	Abnormal cerebral morphology	1859	DYRK1A	OMIM:614104
HP:0002060	Abnormal cerebral morphology	2896	GRN	OMIM:607485
HP:0002060	Abnormal cerebral morphology	11128	POLR3A	ORPHA:447896
HP:0002060	Abnormal cerebral morphology	11128	POLR3A	OMIM:607694
HP:0002060	Abnormal cerebral morphology	55343	SLC35C1	OMIM:266265
HP:0002060	Abnormal cerebral morphology	8517	IKBKG	ORPHA:464
HP:0002060	Abnormal cerebral morphology	4644	MYO5A	ORPHA:33445
HP:0002060	Abnormal cerebral morphology	51633	OTUD6B	ORPHA:505237
HP:0002060	Abnormal cerebral morphology	4094	MAF	ORPHA:1272
HP:0002060	Abnormal cerebral morphology	5621	PRNP	ORPHA:157941
HP:0002060	Abnormal cerebral morphology	56098	PCDHGC4	OMIM:619880
HP:0002060	Abnormal cerebral morphology	25973	PARS2	OMIM:618437
HP:0002060	Abnormal cerebral morphology	54499	TMCO1	ORPHA:1394
HP:0002060	Abnormal cerebral morphology	9562	MINPP1	OMIM:619527
HP:0002060	Abnormal cerebral morphology	2558	GABRA5	OMIM:618559
HP:0002060	Abnormal cerebral morphology	6311	ATXN2	ORPHA:98756
HP:0002060	Abnormal cerebral morphology	8573	CASK	ORPHA:163937
HP:0002060	Abnormal cerebral morphology	22906	TRAK1	OMIM:618201
HP:0002060	Abnormal cerebral morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002060	Abnormal cerebral morphology	22930	RAB3GAP1	ORPHA:2510
HP:0002060	Abnormal cerebral morphology	25782	RAB3GAP2	ORPHA:1387
HP:0002060	Abnormal cerebral morphology	25782	RAB3GAP2	ORPHA:401830
HP:0002060	Abnormal cerebral morphology	25782	RAB3GAP2	ORPHA:2510
HP:0002060	Abnormal cerebral morphology	5664	PSEN2	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	10452	TOMM40	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	351	APP	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	6653	SORL1	ORPHA:1020
HP:0002060	Abnormal cerebral morphology	64116	SLC39A8	ORPHA:468699
HP:0002060	Abnormal cerebral morphology	404672	GTF2H5	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	833	CARS1	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	2068	ERCC2	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	2068	ERCC2	ORPHA:910
HP:0002060	Abnormal cerebral morphology	2068	ERCC2	ORPHA:1466
HP:0002060	Abnormal cerebral morphology	7737	RNF113A	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	136647	MPLKIP	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	136647	MPLKIP	OMIM:234050
HP:0002060	Abnormal cerebral morphology	6897	TARS1	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	2071	ERCC3	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	2071	ERCC3	ORPHA:910
HP:0002060	Abnormal cerebral morphology	2961	GTF2E2	ORPHA:33364
HP:0002060	Abnormal cerebral morphology	51750	RTEL1	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	65057	ACD	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	5073	PARN	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	7015	TERT	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	26277	TINF2	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	1736	DKC1	ORPHA:3322
HP:0002060	Abnormal cerebral morphology	79053	ALG8	ORPHA:79325
HP:0002060	Abnormal cerebral morphology	2776	GNAQ	ORPHA:3205
HP:0002060	Abnormal cerebral morphology	2776	GNAQ	OMIM:185300
HP:0002060	Abnormal cerebral morphology	8295	TRRAP	OMIM:618454
HP:0002060	Abnormal cerebral morphology	58497	PRUNE1	OMIM:617481
HP:0002060	Abnormal cerebral morphology	2583	B4GALNT1	OMIM:609195
HP:0002060	Abnormal cerebral morphology	2583	B4GALNT1	ORPHA:101006
HP:0002060	Abnormal cerebral morphology	7407	VARS1	OMIM:617802
HP:0002060	Abnormal cerebral morphology	57724	EPG5	ORPHA:1493
HP:0002060	Abnormal cerebral morphology	4204	MECP2	OMIM:312750
HP:0002060	Abnormal cerebral morphology	81603	TRIM8	OMIM:619428
HP:0002060	Abnormal cerebral morphology	5277	PIGA	OMIM:301072
HP:0002060	Abnormal cerebral morphology	5277	PIGA	OMIM:300868
HP:0002060	Abnormal cerebral morphology	7507	XPA	ORPHA:910
HP:0002060	Abnormal cerebral morphology	7508	XPC	ORPHA:910
HP:0002060	Abnormal cerebral morphology	1643	DDB2	ORPHA:910
HP:0002060	Abnormal cerebral morphology	2072	ERCC4	ORPHA:910
HP:0002060	Abnormal cerebral morphology	2073	ERCC5	ORPHA:910
HP:0002060	Abnormal cerebral morphology	2073	ERCC5	ORPHA:1466
HP:0002060	Abnormal cerebral morphology	55703	POLR3B	OMIM:607694
HP:0002060	Abnormal cerebral morphology	1203	CLN5	ORPHA:228360
HP:0002060	Abnormal cerebral morphology	1203	CLN5	OMIM:256731
HP:0002060	Abnormal cerebral morphology	4558	MT-TF	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4572	MT-TQ	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4512	MT-CO1	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4513	MT-CO2	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4514	MT-CO3	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4578	MT-TW	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4540	MT-ND5	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4541	MT-ND6	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4535	MT-ND1	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4538	MT-ND4	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4567	MT-TL1	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4574	MT-TS1	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4575	MT-TS2	ORPHA:550
HP:0002060	Abnormal cerebral morphology	4564	MT-TH	ORPHA:550
HP:0002060	Abnormal cerebral morphology	27238	GPKOW	ORPHA:2570
HP:0002060	Abnormal cerebral morphology	8925	HERC1	OMIM:617011
HP:0002060	Abnormal cerebral morphology	8925	HERC1	ORPHA:457359
HP:0002060	Abnormal cerebral morphology	92935	MARS2	OMIM:611390
HP:0002060	Abnormal cerebral morphology	92935	MARS2	ORPHA:314603
HP:0002060	Abnormal cerebral morphology	4598	MVK	ORPHA:29
HP:0002060	Abnormal cerebral morphology	54832	VPS13C	OMIM:616840
HP:0002060	Abnormal cerebral morphology	55746	NUP133	OMIM:618349
HP:0002060	Abnormal cerebral morphology	79813	EHMT1	ORPHA:96147
HP:0002060	Abnormal cerebral morphology	57679	ALS2	OMIM:606353
HP:0002060	Abnormal cerebral morphology	27249	MMADHC	OMIM:277410
HP:0002060	Abnormal cerebral morphology	55630	SLC39A4	ORPHA:37
HP:0002060	Abnormal cerebral morphology	2902	GRIN1	OMIM:617820
HP:0002060	Abnormal cerebral morphology	8085	KMT2D	ORPHA:2322
HP:0002060	Abnormal cerebral morphology	7403	KDM6A	ORPHA:2322
HP:0002060	Abnormal cerebral morphology	998	CDC42	OMIM:616737
HP:0002060	Abnormal cerebral morphology	50	ACO2	OMIM:614559
HP:0002060	Abnormal cerebral morphology	10166	SLC25A15	ORPHA:415
HP:0002060	Abnormal cerebral morphology	10166	SLC25A15	OMIM:238970
HP:0002060	Abnormal cerebral morphology	6904	TBCD	ORPHA:496641
HP:0002060	Abnormal cerebral morphology	29925	GMPPB	ORPHA:370968
HP:0002060	Abnormal cerebral morphology	79147	FKRP	ORPHA:370968
HP:0002060	Abnormal cerebral morphology	29954	POMT2	ORPHA:370968
HP:0002060	Abnormal cerebral morphology	29954	POMT2	OMIM:613156
HP:0002060	Abnormal cerebral morphology	9215	LARGE1	ORPHA:370968
HP:0002060	Abnormal cerebral morphology	10585	POMT1	ORPHA:370968
HP:0002060	Abnormal cerebral morphology	56915	EXOSC5	OMIM:619576
HP:0002060	Abnormal cerebral morphology	23221	RHOBTB2	OMIM:618004
HP:0002060	Abnormal cerebral morphology	8867	SYNJ1	OMIM:615530
HP:0002060	Abnormal cerebral morphology	6928	HNF1B	OMIM:137920
HP:0002060	Abnormal cerebral morphology	2067	ERCC1	ORPHA:1466
HP:0002060	Abnormal cerebral morphology	2074	ERCC6	ORPHA:1466
HP:0002060	Abnormal cerebral morphology	6709	SPTAN1	OMIM:613477
HP:0002060	Abnormal cerebral morphology	54834	GDAP2	OMIM:618369
HP:0002060	Abnormal cerebral morphology	2629	GBA1	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	23317	DNAJC13	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	1981	EIF4G1	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	55737	VPS35	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	120892	LRRK2	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	26058	GIGYF2	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	6622	SNCA	ORPHA:411602
HP:0002060	Abnormal cerebral morphology	5604	MAP2K1	ORPHA:1340
HP:0002060	Abnormal cerebral morphology	5605	MAP2K2	ORPHA:1340
HP:0002060	Abnormal cerebral morphology	51608	GET4	OMIM:620200
HP:0002060	Abnormal cerebral morphology	100506658	OCLN	ORPHA:1229
HP:0002060	Abnormal cerebral morphology	3265	HRAS	ORPHA:3071
HP:0002060	Abnormal cerebral morphology	9758	FRMPD4	OMIM:300983
HP:0002060	Abnormal cerebral morphology	83696	TRAPPC9	ORPHA:352530
HP:0002060	Abnormal cerebral morphology	128637	TBC1D20	OMIM:615663
HP:0002060	Abnormal cerebral morphology	128637	TBC1D20	ORPHA:2510
HP:0002060	Abnormal cerebral morphology	26040	SETBP1	ORPHA:798
HP:0002060	Abnormal cerebral morphology	23476	BRD4	ORPHA:199
HP:0002060	Abnormal cerebral morphology	9126	SMC3	ORPHA:199
HP:0002060	Abnormal cerebral morphology	8243	SMC1A	ORPHA:199
HP:0002060	Abnormal cerebral morphology	25836	NIPBL	ORPHA:199
HP:0002060	Abnormal cerebral morphology	55869	HDAC8	ORPHA:199
HP:0002060	Abnormal cerebral morphology	5885	RAD21	ORPHA:199
HP:0002060	Abnormal cerebral morphology	7399	USH2A	ORPHA:231178
HP:0002060	Abnormal cerebral morphology	79955	PDZD7	ORPHA:231178
HP:0002060	Abnormal cerebral morphology	4647	MYO7A	ORPHA:231178
HP:0002060	Abnormal cerebral morphology	4647	MYO7A	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	25861	WHRN	ORPHA:231178
HP:0002060	Abnormal cerebral morphology	84059	ADGRV1	ORPHA:231178
HP:0002060	Abnormal cerebral morphology	6197	RPS6KA3	ORPHA:192
HP:0002060	Abnormal cerebral morphology	9150	CTDP1	ORPHA:48431
HP:0002060	Abnormal cerebral morphology	94005	PIGS	OMIM:618143
HP:0002060	Abnormal cerebral morphology	22866	CNKSR2	OMIM:301008
HP:0002060	Abnormal cerebral morphology	22931	RAB18	OMIM:614222
HP:0002060	Abnormal cerebral morphology	22931	RAB18	ORPHA:2510
HP:0002060	Abnormal cerebral morphology	7305	TYROBP	ORPHA:2770
HP:0002060	Abnormal cerebral morphology	8905	AP1S2	ORPHA:1568
HP:0002060	Abnormal cerebral morphology	10283	CWC27	ORPHA:166035
HP:0002060	Abnormal cerebral morphology	80055	PGAP1	ORPHA:401820
HP:0002060	Abnormal cerebral morphology	60558	GUF1	OMIM:617065
HP:0002060	Abnormal cerebral morphology	122553	TRAPPC6B	OMIM:617862
HP:0002060	Abnormal cerebral morphology	2893	GRIA4	OMIM:617864
HP:0002060	Abnormal cerebral morphology	79152	FA2H	ORPHA:171629
HP:0002060	Abnormal cerebral morphology	57038	RARS2	OMIM:611523
HP:0002060	Abnormal cerebral morphology	55164	SHQ1	OMIM:619922
HP:0002060	Abnormal cerebral morphology	57704	GBA2	ORPHA:320391
HP:0002060	Abnormal cerebral morphology	6785	ELOVL4	OMIM:133190
HP:0002060	Abnormal cerebral morphology	3090	HIC1	ORPHA:531
HP:0002060	Abnormal cerebral morphology	7531	YWHAE	ORPHA:531
HP:0002060	Abnormal cerebral morphology	10717	AP4B1	ORPHA:280763
HP:0002060	Abnormal cerebral morphology	9179	AP4M1	ORPHA:280763
HP:0002060	Abnormal cerebral morphology	11154	AP4S1	ORPHA:280763
HP:0002060	Abnormal cerebral morphology	95	ACY1	OMIM:609924
HP:0002060	Abnormal cerebral morphology	25978	CHMP2B	OMIM:600795
HP:0002060	Abnormal cerebral morphology	1716	DGUOK	OMIM:617070
HP:0002060	Abnormal cerebral morphology	340533	NEXMIF	ORPHA:85277
HP:0002060	Abnormal cerebral morphology	29920	PYCR2	OMIM:616420
HP:0002060	Abnormal cerebral morphology	10479	SLC9A6	ORPHA:85278
HP:0002060	Abnormal cerebral morphology	777	CACNA1E	OMIM:618285
HP:0002060	Abnormal cerebral morphology	85378	TUBGCP6	ORPHA:2518
HP:0002060	Abnormal cerebral morphology	27229	TUBGCP4	ORPHA:2518
HP:0002060	Abnormal cerebral morphology	10733	PLK4	ORPHA:2518
HP:0002060	Abnormal cerebral morphology	55005	RMND1	OMIM:614922
HP:0002060	Abnormal cerebral morphology	4693	NDP	ORPHA:649
HP:0002060	Abnormal cerebral morphology	71	ACTG1	ORPHA:2995
HP:0002060	Abnormal cerebral morphology	60	ACTB	ORPHA:2995
HP:0002060	Abnormal cerebral morphology	2801	GOLGA2	OMIM:620240
HP:0002060	Abnormal cerebral morphology	23299	BICD2	OMIM:618291
HP:0002060	Abnormal cerebral morphology	64072	CDH23	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	10083	USH1C	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	124590	USH1G	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	83715	ESPN	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	10518	CIB2	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	65217	PCDH15	ORPHA:231169
HP:0002060	Abnormal cerebral morphology	116150	NUS1	OMIM:617082
HP:0002060	Abnormal cerebral morphology	23404	EXOSC2	OMIM:617763
HP:0002060	Abnormal cerebral morphology	79587	CARS2	OMIM:616672
HP:0002060	Abnormal cerebral morphology	221692	PHACTR1	OMIM:618298
HP:0002060	Abnormal cerebral morphology	4858	NOVA2	OMIM:618859
HP:0002060	Abnormal cerebral morphology	29110	TBK1	OMIM:616439
HP:0002060	Abnormal cerebral morphology	170302	ARX	ORPHA:2508
HP:0002060	Abnormal cerebral morphology	8878	SQSTM1	OMIM:616437
HP:0002060	Abnormal cerebral morphology	25974	MMACHC	OMIM:277400
HP:0002060	Abnormal cerebral morphology	5052	PRDX1	OMIM:277400
HP:0002060	Abnormal cerebral morphology	267010	RNU12	ORPHA:512260
HP:0002060	Abnormal cerebral morphology	27183	VPS4A	OMIM:619273
HP:0002060	Abnormal cerebral morphology	9488	PIGB	OMIM:618580
HP:0002060	Abnormal cerebral morphology	8450	CUL4B	OMIM:300354
HP:0002060	Abnormal cerebral morphology	1281	COL3A1	OMIM:618343
HP:0002060	Abnormal cerebral morphology	894	CCND2	ORPHA:83473
HP:0002060	Abnormal cerebral morphology	894	CCND2	OMIM:615938
HP:0002060	Abnormal cerebral morphology	5296	PIK3R2	ORPHA:83473
HP:0002060	Abnormal cerebral morphology	5296	PIK3R2	OMIM:603387
HP:0002060	Abnormal cerebral morphology	26128	KIFBP	OMIM:609460
HP:0002060	Abnormal cerebral morphology	50814	NSDHL	ORPHA:251383
HP:0002060	Abnormal cerebral morphology	50814	NSDHL	OMIM:300831
HP:0002060	Abnormal cerebral morphology	2782	GNB1	ORPHA:488613
HP:0002060	Abnormal cerebral morphology	2782	GNB1	OMIM:616973
HP:0002060	Abnormal cerebral morphology	54931	TRMT10C	OMIM:616974
HP:0002060	Abnormal cerebral morphology	79644	SRD5A3	OMIM:612379
HP:0002060	Abnormal cerebral morphology	55780	ERMARD	ORPHA:75857
HP:0002060	Abnormal cerebral morphology	4131	MAP1B	OMIM:618918
HP:0002060	Abnormal cerebral morphology	11274	USP18	OMIM:617397
HP:0002060	Abnormal cerebral morphology	8131	NPRL3	ORPHA:98820
HP:0002060	Abnormal cerebral morphology	10641	NPRL2	ORPHA:98820
HP:0002060	Abnormal cerebral morphology	9681	DEPDC5	ORPHA:98820
HP:0002060	Abnormal cerebral morphology	80311	KLHL15	OMIM:300982
HP:0002060	Abnormal cerebral morphology	4330	MN1	OMIM:618774
HP:0002060	Abnormal cerebral morphology	23327	NEDD4L	OMIM:617201
HP:0002060	Abnormal cerebral morphology	112858	TP53RK	OMIM:617730
HP:0002060	Abnormal cerebral morphology	8270	LAGE3	OMIM:301006
HP:0002060	Abnormal cerebral morphology	23545	ATP6V0A2	OMIM:219200
HP:0002060	Abnormal cerebral morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002060	Abnormal cerebral morphology	80781	COL18A1	OMIM:267750
HP:0002060	Abnormal cerebral morphology	2222	FDFT1	OMIM:618156
HP:0002060	Abnormal cerebral morphology	3800	KIF5C	OMIM:615282
HP:0002060	Abnormal cerebral morphology	79143	MBOAT7	OMIM:617188
HP:0002060	Abnormal cerebral morphology	10319	LAMC3	OMIM:614115
HP:0002060	Abnormal cerebral morphology	55670	PEX26	OMIM:614872
HP:0002060	Abnormal cerebral morphology	55670	PEX26	ORPHA:912
HP:0002060	Abnormal cerebral morphology	55704	CCDC88A	OMIM:617507
HP:0002060	Abnormal cerebral morphology	7284	TUFM	OMIM:610678
HP:0002060	Abnormal cerebral morphology	4123	MAN2C1	OMIM:619775
HP:0002060	Abnormal cerebral morphology	529	ATP6V1E1	ORPHA:357074
HP:0002060	Abnormal cerebral morphology	5879	RAC1	OMIM:617751
HP:0002060	Abnormal cerebral morphology	5879	RAC1	ORPHA:500159
HP:0002060	Abnormal cerebral morphology	200205	IBA57	OMIM:615330
HP:0002060	Abnormal cerebral morphology	5194	PEX13	OMIM:614883
HP:0002060	Abnormal cerebral morphology	5194	PEX13	ORPHA:912
HP:0002060	Abnormal cerebral morphology	23219	FBXO28	OMIM:619777
HP:0002060	Abnormal cerebral morphology	5195	PEX14	OMIM:614887
HP:0002060	Abnormal cerebral morphology	5195	PEX14	ORPHA:912
HP:0002060	Abnormal cerebral morphology	51075	TMX2	OMIM:618730
HP:0002060	Abnormal cerebral morphology	8884	SLC5A6	OMIM:618973
HP:0002060	Abnormal cerebral morphology	57647	DHX37	OMIM:618731
HP:0002060	Abnormal cerebral morphology	10243	GPHN	OMIM:615501
HP:0002060	Abnormal cerebral morphology	5824	PEX19	ORPHA:912
HP:0002060	Abnormal cerebral morphology	8504	PEX3	ORPHA:912
HP:0002060	Abnormal cerebral morphology	8799	PEX11B	ORPHA:912
HP:0002060	Abnormal cerebral morphology	5190	PEX6	ORPHA:912
HP:0002060	Abnormal cerebral morphology	5830	PEX5	ORPHA:912
HP:0002060	Abnormal cerebral morphology	5193	PEX12	ORPHA:912
HP:0002060	Abnormal cerebral morphology	5192	PEX10	ORPHA:912
HP:0002060	Abnormal cerebral morphology	7490	WT1	OMIM:106210
HP:0002060	Abnormal cerebral morphology	5080	PAX6	OMIM:106210
HP:0002060	Abnormal cerebral morphology	168667	BMPER	OMIM:608022
HP:0002060	Abnormal cerebral morphology	79709	COLGALT1	OMIM:618360
HP:0002060	Abnormal cerebral morphology	6628	SNRPB	ORPHA:1393
HP:0002060	Abnormal cerebral morphology	6628	SNRPB	OMIM:117650
HP:0002060	Abnormal cerebral morphology	1284	COL4A2	OMIM:614483
HP:0002060	Abnormal cerebral morphology	8985	PLOD3	OMIM:612394
HP:0002060	Abnormal cerebral morphology	4893	NRAS	ORPHA:2612
HP:0002060	Abnormal cerebral morphology	2639	GCDH	ORPHA:25
HP:0002060	Abnormal cerebral morphology	7084	TK2	OMIM:609560
HP:0002060	Abnormal cerebral morphology	170825	GSX2	OMIM:618646
HP:0002060	Abnormal cerebral morphology	80704	SLC19A3	OMIM:607483
HP:0002060	Abnormal cerebral morphology	80704	SLC19A3	ORPHA:263410
HP:0002060	Abnormal cerebral morphology	81570	CLPB	ORPHA:445038
HP:0002060	Abnormal cerebral morphology	2512	FTL	ORPHA:157846
HP:0002060	Abnormal cerebral morphology	549	AUH	ORPHA:67046
HP:0002060	Abnormal cerebral morphology	8803	SUCLA2	OMIM:612073
HP:0002060	Abnormal cerebral morphology	9131	AIFM1	OMIM:300816
HP:0002060	Abnormal cerebral morphology	93986	FOXP2	OMIM:602081
HP:0002060	Abnormal cerebral morphology	113612	CYP2U1	OMIM:615030
HP:0002060	Abnormal cerebral morphology	58494	JAM2	OMIM:618824
HP:0002060	Abnormal cerebral morphology	1161	ERCC8	ORPHA:90324
HP:0002060	Abnormal cerebral morphology	1161	ERCC8	ORPHA:90321
HP:0002060	Abnormal cerebral morphology	1161	ERCC8	OMIM:216400
HP:0002060	Abnormal cerebral morphology	9636	ISG15	OMIM:616126
HP:0002060	Abnormal cerebral morphology	2767	GNA11	OMIM:615361
HP:0002060	Abnormal cerebral morphology	5155	PDGFB	OMIM:615483
HP:0002060	Abnormal cerebral morphology	5155	PDGFB	OMIM:213600
HP:0002060	Abnormal cerebral morphology	9213	XPR1	OMIM:616413
HP:0002060	Abnormal cerebral morphology	2625	GATA3	OMIM:146255
HP:0002060	Abnormal cerebral morphology	5159	PDGFRB	OMIM:615007
HP:0002060	Abnormal cerebral morphology	5159	PDGFRB	OMIM:213600
HP:0002060	Abnormal cerebral morphology	57462	MYORG	OMIM:618317
HP:0002060	Abnormal cerebral morphology	760	CA2	OMIM:259730
HP:0002060	Abnormal cerebral morphology	760	CA2	ORPHA:2785
HP:0002060	Abnormal cerebral morphology	10059	DNM1L	ORPHA:98673
HP:0002060	Abnormal cerebral morphology	90	ACVR1	OMIM:135100
HP:0002060	Abnormal cerebral morphology	2778	GNAS	OMIM:612462
HP:0002060	Abnormal cerebral morphology	2778	GNAS	ORPHA:79443
HP:0002060	Abnormal cerebral morphology	2778	GNAS	ORPHA:79444
HP:0002060	Abnormal cerebral morphology	2778	GNAS	OMIM:103580
HP:0002060	Abnormal cerebral morphology	727676	SNORD118	ORPHA:542310
HP:0002060	Abnormal cerebral morphology	6575	SLC20A2	OMIM:213600
HP:0002060	Abnormal cerebral morphology	63901	FAM111A	OMIM:127000
HP:0002060	Abnormal cerebral morphology	63901	FAM111A	ORPHA:93325
HP:0002060	Abnormal cerebral morphology	116442	RAB39B	OMIM:311510
HP:0002060	Abnormal cerebral morphology	56984	PSMG2	OMIM:619183
HP:0002060	Abnormal cerebral morphology	846	CASR	OMIM:601198
HP:0002060	Abnormal cerebral morphology	113235	SLC46A1	OMIM:229050
HP:0002060	Abnormal cerebral morphology	5696	PSMB8	OMIM:256040
HP:0002060	Abnormal cerebral morphology	2697	GJA1	OMIM:164200
HP:0002060	Abnormal cerebral morphology	9896	FIG4	OMIM:216340
HP:0002060	Abnormal cerebral morphology	9896	FIG4	ORPHA:3472
HP:0002060	Abnormal cerebral morphology	55697	VAC14	ORPHA:3472
HP:0002060	Abnormal cerebral morphology	65250	CPLANE1	OMIM:277170
HP:0002060	Abnormal cerebral morphology	219844	HYLS1	ORPHA:2189
HP:0002060	Abnormal cerebral morphology	219844	HYLS1	OMIM:236680
HP:0002060	Abnormal cerebral morphology	374654	KIF7	ORPHA:2189
HP:0002060	Abnormal cerebral morphology	55636	CHD7	OMIM:214800
HP:0002060	Abnormal cerebral morphology	26123	TCTN3	OMIM:614815
HP:0002060	Abnormal cerebral morphology	10535	RNASEH2A	ORPHA:51
HP:0002060	Abnormal cerebral morphology	84153	RNASEH2C	ORPHA:51
HP:0002060	Abnormal cerebral morphology	25939	SAMHD1	ORPHA:51
HP:0002060	Abnormal cerebral morphology	79621	RNASEH2B	ORPHA:51
HP:0002060	Abnormal cerebral morphology	103	ADAR	ORPHA:51
HP:0002060	Abnormal cerebral morphology	11277	TREX1	ORPHA:51
HP:0002060	Abnormal cerebral morphology	134353	LSM11	ORPHA:51
HP:0002060	Abnormal cerebral morphology	64135	IFIH1	ORPHA:51
HP:0002060	Abnormal cerebral morphology	1312	COMT	ORPHA:567
HP:0002060	Abnormal cerebral morphology	221037	JMJD1C	ORPHA:567
HP:0002060	Abnormal cerebral morphology	2812	GP1BB	ORPHA:567
HP:0002060	Abnormal cerebral morphology	6239	RREB1	ORPHA:567
HP:0002060	Abnormal cerebral morphology	6899	TBX1	ORPHA:567
HP:0002060	Abnormal cerebral morphology	7290	HIRA	ORPHA:567
HP:0002060	Abnormal cerebral morphology	9632	SEC24C	ORPHA:567
HP:0002060	Abnormal cerebral morphology	7353	UFD1	ORPHA:567
HP:0002060	Abnormal cerebral morphology	421	ARVCF	ORPHA:567
HP:0002060	Abnormal cerebral morphology	81839	VANGL1	ORPHA:3027
HP:0002060	Abnormal cerebral morphology	80199	FUZ	ORPHA:3027
HP:0002060	Abnormal cerebral morphology	2187	FANCB	ORPHA:3412
HP:0002060	Abnormal cerebral morphology	526	ATP6V1B2	ORPHA:79500
HP:0002060	Abnormal cerebral morphology	57465	TBC1D24	ORPHA:79500
HP:0002060	Abnormal cerebral morphology	10262	SF3B4	ORPHA:1788
HP:0002060	Abnormal cerebral morphology	64093	SMOC1	ORPHA:1106
HP:0002060	Abnormal cerebral morphology	94	ACVRL1	OMIM:600376
HP:0002060	Abnormal cerebral morphology	4854	NOTCH3	ORPHA:136
HP:0002060	Abnormal cerebral morphology	51816	ADA2	OMIM:182410
HP:0002060	Abnormal cerebral morphology	2022	ENG	OMIM:187300
HP:0002060	Abnormal cerebral morphology	81031	SLC2A10	OMIM:208050
HP:0002060	Abnormal cerebral morphology	2982	GUCY1A1	OMIM:615750
HP:0002060	Abnormal cerebral morphology	3717	JAK2	OMIM:614521
HP:0002060	Abnormal cerebral morphology	50485	SMARCAL1	ORPHA:1830
HP:0002060	Abnormal cerebral morphology	6331	SCN5A	ORPHA:1344
HP:0002060	Abnormal cerebral morphology	4878	NPPA	ORPHA:1344
HP:0002060	Abnormal cerebral morphology	2783	GNB2	OMIM:619503
HP:0002060	Abnormal cerebral morphology	79184	BRCC3	ORPHA:280679
HP:0002060	Abnormal cerebral morphology	1282	COL4A1	OMIM:175780
HP:0002060	Abnormal cerebral morphology	4629	MYH11	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	7046	TGFBR1	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	7048	TGFBR2	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4015	LOX	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4087	SMAD2	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	7043	TGFB3	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4088	SMAD3	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	7042	TGFB2	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4089	SMAD4	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	2200	FBN1	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	59	ACTA2	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	5592	PRKG1	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	2301	FOXE3	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4144	MAT2A	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	23493	HEY2	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	8076	MFAP5	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	4638	MYLK	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	2006	ELN	ORPHA:91387
HP:0002060	Abnormal cerebral morphology	55739	NAXD	OMIM:618321
HP:0002060	Abnormal cerebral morphology	51241	COX16	OMIM:619355
HP:0002060	Abnormal cerebral morphology	34	ACADM	OMIM:201450
HP:0002060	Abnormal cerebral morphology	1629	DBT	OMIM:248600
HP:0002060	Abnormal cerebral morphology	593	BCKDHA	OMIM:248600
HP:0002060	Abnormal cerebral morphology	594	BCKDHB	OMIM:248600
HP:0002060	Abnormal cerebral morphology	5009	OTC	OMIM:311250
HP:0002060	Abnormal cerebral morphology	10165	SLC25A13	ORPHA:247585
HP:0002060	Abnormal cerebral morphology	10165	SLC25A13	OMIM:603471
HP:0002060	Abnormal cerebral morphology	435	ASL	OMIM:207900
HP:0002060	Abnormal cerebral morphology	708	C1QBP	OMIM:617713
HP:0002060	Abnormal cerebral morphology	445	ASS1	OMIM:215700
HP:0002060	Abnormal cerebral morphology	112476	PRRT2	ORPHA:569
HP:0002060	Abnormal cerebral morphology	28976	ACAD9	OMIM:611126
HP:0002060	Abnormal cerebral morphology	28976	ACAD9	ORPHA:99901
HP:0002060	Abnormal cerebral morphology	1373	CPS1	OMIM:237300
HP:0002060	Abnormal cerebral morphology	7187	TRAF3	ORPHA:1930
HP:0002060	Abnormal cerebral morphology	81622	UNC93B1	ORPHA:1930
HP:0002060	Abnormal cerebral morphology	148022	TICAM1	ORPHA:1930
HP:0002060	Abnormal cerebral morphology	7098	TLR3	ORPHA:1930
HP:0002060	Abnormal cerebral morphology	10577	NPC2	OMIM:607625
HP:0002060	Abnormal cerebral morphology	9445	ITM2B	OMIM:117300
HP:0002060	Abnormal cerebral morphology	1540	CYLD	OMIM:619132
HP:0002060	Abnormal cerebral morphology	4353	MPO	OMIM:104300
HP:0002060	Abnormal cerebral morphology	4846	NOS3	OMIM:104300
HP:0002060	Abnormal cerebral morphology	3077	HFE	OMIM:104300
HP:0002060	Abnormal cerebral morphology	5328	PLAU	OMIM:104300
HP:0002060	Abnormal cerebral morphology	4864	NPC1	OMIM:257220
HP:0002060	Abnormal cerebral morphology	81788	NUAK2	OMIM:619452
HP:0002060	Abnormal cerebral morphology	6347	CCL2	OMIM:182940
HP:0002060	Abnormal cerebral morphology	6862	TBXT	OMIM:182940
HP:0002060	Abnormal cerebral morphology	3239	HOXD13	ORPHA:887
HP:0002060	Abnormal cerebral morphology	55521	TRIM36	OMIM:206500
HP:0002060	Abnormal cerebral morphology	124997	WDR81	OMIM:617967
HP:0002060	Abnormal cerebral morphology	6913	TBX15	OMIM:260660
HP:0002060	Abnormal cerebral morphology	55165	CEP55	OMIM:236500
HP:0002060	Abnormal cerebral morphology	25915	NDUFAF3	ORPHA:70474
HP:0002060	Abnormal cerebral morphology	4714	NDUFB8	ORPHA:70474
HP:0002060	Abnormal cerebral morphology	4720	NDUFS2	ORPHA:70474
HP:0002060	Abnormal cerebral morphology	9997	SCO2	ORPHA:70474
HP:0002060	Abnormal cerebral morphology	6834	SURF1	ORPHA:70474
HP:0002060	Abnormal cerebral morphology	1678	TIMM8A	ORPHA:52368
HP:0002060	Abnormal cerebral morphology	3064	HTT	ORPHA:399
HP:0002060	Abnormal cerebral morphology	3064	HTT	OMIM:617435
HP:0002060	Abnormal cerebral morphology	6515	SLC2A3	ORPHA:399
HP:0002060	Abnormal cerebral morphology	26580	BSCL2	ORPHA:363400
HP:0002060	Abnormal cerebral morphology	4750	NEK1	OMIM:617892
HP:0002060	Abnormal cerebral morphology	4983	OPHN1	ORPHA:137831
HP:0002060	Abnormal cerebral morphology	3155	HMGCL	ORPHA:20
HP:0002060	Abnormal cerebral morphology	51103	NDUFAF1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	91942	NDUFAF2	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	91942	NDUFAF2	OMIM:618233
HP:0002060	Abnormal cerebral morphology	51300	TIMMDC1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4716	NDUFB10	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4723	NDUFV1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	55572	FOXRED1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	284184	NDUFAF8	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	55863	TMEM126B	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4537	MT-ND3	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4729	NDUFV2	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4694	NDUFA1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4724	NDUFS4	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4724	NDUFS4	OMIM:252010
HP:0002060	Abnormal cerebral morphology	4726	NDUFS6	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4728	NDUFS8	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4722	NDUFS3	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	126328	NDUFA11	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4709	NDUFB3	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	80224	NUBPL	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	80224	NUBPL	OMIM:618242
HP:0002060	Abnormal cerebral morphology	29078	NDUFAF4	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	374291	NDUFS7	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4700	NDUFA6	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4536	MT-ND2	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4719	NDUFS1	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	4719	NDUFS1	OMIM:618226
HP:0002060	Abnormal cerebral morphology	4715	NDUFB9	ORPHA:2609
HP:0002060	Abnormal cerebral morphology	65260	COA7	OMIM:618387
HP:0002060	Abnormal cerebral morphology	4570	MT-TN	OMIM:220110
HP:0002060	Abnormal cerebral morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0002060	Abnormal cerebral morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0002060	Abnormal cerebral morphology	1890	TYMP	OMIM:603041
HP:0002060	Abnormal cerebral morphology	1890	TYMP	ORPHA:298
HP:0002060	Abnormal cerebral morphology	22934	RPIA	OMIM:608611
HP:0002060	Abnormal cerebral morphology	56945	MRPS22	OMIM:611719
HP:0002060	Abnormal cerebral morphology	128240	NAXE	OMIM:617186
HP:0002060	Abnormal cerebral morphology	1615	DARS1	OMIM:615281
HP:0002060	Abnormal cerebral morphology	644096	SDHAF1	OMIM:619166
HP:0002060	Abnormal cerebral morphology	4780	NFE2L2	OMIM:617744
HP:0002060	Abnormal cerebral morphology	10730	YME1L1	OMIM:617302
HP:0002060	Abnormal cerebral morphology	54982	CLN6	OMIM:204300
HP:0002060	Abnormal cerebral morphology	1181	CLCN2	OMIM:615651
HP:0002060	Abnormal cerebral morphology	9512	PMPCB	OMIM:617954
HP:0002060	Abnormal cerebral morphology	10352	WARS2	OMIM:617710
HP:0002060	Abnormal cerebral morphology	10352	WARS2	ORPHA:572798
HP:0002060	Abnormal cerebral morphology	1967	EIF2B1	OMIM:603896
HP:0002060	Abnormal cerebral morphology	64802	NMNAT1	OMIM:619260
HP:0002060	Abnormal cerebral morphology	27247	NFU1	OMIM:605711
HP:0002060	Abnormal cerebral morphology	3735	KARS1	OMIM:619147
HP:0002060	Abnormal cerebral morphology	80169	CTC1	OMIM:612199
HP:0002060	Abnormal cerebral morphology	55157	DARS2	OMIM:611105
HP:0002060	Abnormal cerebral morphology	6342	SCP2	OMIM:613724
HP:0002060	Abnormal cerebral morphology	2615	LRRC32	OMIM:619074
HP:0002060	Abnormal cerebral morphology	54941	RNF125	OMIM:616260
HP:0002060	Abnormal cerebral morphology	64324	NSD1	OMIM:117550
HP:0002060	Abnormal cerebral morphology	64324	NSD1	ORPHA:821
HP:0002060	Abnormal cerebral morphology	4593	MUSK	OMIM:208150
HP:0002060	Abnormal cerebral morphology	347733	TUBB2B	ORPHA:300573
HP:0002060	Abnormal cerebral morphology	5528	PPP2R5D	ORPHA:457279
HP:0002060	Abnormal cerebral morphology	8815	BANF1	OMIM:614008
HP:0002060	Abnormal cerebral morphology	81857	MED25	ORPHA:464738
HP:0002060	Abnormal cerebral morphology	81857	MED25	OMIM:616449
HP:0002060	Abnormal cerebral morphology	3703	STT3A	OMIM:619714
HP:0002060	Abnormal cerebral morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002060	Abnormal cerebral morphology	9939	RBM8A	OMIM:274000
HP:0002060	Abnormal cerebral morphology	7080	NKX2-1	ORPHA:209905
HP:0002060	Abnormal cerebral morphology	79087	ALG12	ORPHA:79324
HP:0002060	Abnormal cerebral morphology	29072	SETD2	ORPHA:821
HP:0002060	Abnormal cerebral morphology	10297	APC2	ORPHA:821
HP:0002060	Abnormal cerebral morphology	7703	PCGF2	OMIM:618371
HP:0002060	Abnormal cerebral morphology	129285	PPP1R21	OMIM:619383
HP:0002060	Abnormal cerebral morphology	5290	PIK3CA	OMIM:602501
HP:0002060	Abnormal cerebral morphology	55181	SMG8	OMIM:619268
HP:0002060	Abnormal cerebral morphology	5594	MAPK1	OMIM:619087
HP:0002060	Abnormal cerebral morphology	8550	MAPKAPK5	OMIM:619869
HP:0002060	Abnormal cerebral morphology	55969	RAB5IF	OMIM:616994
HP:0002060	Abnormal cerebral morphology	55690	PACS1	ORPHA:329224
HP:0002060	Abnormal cerebral morphology	55690	PACS1	OMIM:615009
HP:0002060	Abnormal cerebral morphology	4286	MITF	OMIM:617306
HP:0002060	Abnormal cerebral morphology	53834	FGFRL1	OMIM:194190
HP:0002060	Abnormal cerebral morphology	1487	CTBP1	OMIM:194190
HP:0002060	Abnormal cerebral morphology	3954	LETM1	OMIM:194190
HP:0002060	Abnormal cerebral morphology	7468	NSD2	OMIM:194190
HP:0002060	Abnormal cerebral morphology	10815	CPLX1	OMIM:194190
HP:0002060	Abnormal cerebral morphology	57688	ZSWIM6	OMIM:603671
HP:0002060	Abnormal cerebral morphology	3785	KCNQ2	ORPHA:439218
HP:0002060	Abnormal cerebral morphology	4594	MMUT	OMIM:251000
HP:0002060	Abnormal cerebral morphology	11152	WDR45	OMIM:300894
HP:0002060	Abnormal cerebral morphology	83636	C19orf12	OMIM:614298
HP:0002060	Abnormal cerebral morphology	318	NUDT2	OMIM:619844
HP:0002060	Abnormal cerebral morphology	8398	PLA2G6	ORPHA:35069
HP:0002060	Abnormal cerebral morphology	1737	DLAT	ORPHA:79244
HP:0002060	Abnormal cerebral morphology	1786	DNMT1	ORPHA:314404
HP:0002060	Abnormal cerebral morphology	5551	PRF1	ORPHA:540
HP:0002060	Abnormal cerebral morphology	8676	STX11	ORPHA:540
HP:0002060	Abnormal cerebral morphology	201294	UNC13D	ORPHA:540
HP:0002060	Abnormal cerebral morphology	6813	STXBP2	ORPHA:540
HP:0002060	Abnormal cerebral morphology	51601	LIPT1	OMIM:616299
HP:0002060	Abnormal cerebral morphology	29967	LRP12	OMIM:164310
HP:0002060	Abnormal cerebral morphology	2632	GBE1	OMIM:263570
HP:0002060	Abnormal cerebral morphology	8789	FBP2	OMIM:619864
HP:0002060	Abnormal cerebral morphology	2705	GJB1	OMIM:302800
HP:0002060	Abnormal cerebral morphology	64849	SLC13A3	OMIM:618384
HP:0002060	Abnormal cerebral morphology	57459	GATAD2B	ORPHA:363686
HP:0002060	Abnormal cerebral morphology	6182	MRPL12	OMIM:618951
HP:0002060	Abnormal cerebral morphology	9101	USP8	ORPHA:401795
HP:0002060	Abnormal cerebral morphology	51	ACOX1	OMIM:618960
HP:0002060	Abnormal cerebral morphology	57731	SPTBN4	OMIM:617519
HP:0002060	Abnormal cerebral morphology	1807	DPYS	OMIM:222748
HP:0002060	Abnormal cerebral morphology	27235	COQ2	OMIM:607426
HP:0002060	Abnormal cerebral morphology	7384	UQCRC1	OMIM:619279
HP:0002060	Abnormal cerebral morphology	686	BTD	OMIM:253260
HP:0002060	Abnormal cerebral morphology	23203	PMPCA	ORPHA:1170
HP:0002060	Abnormal cerebral morphology	51473	DCDC2	ORPHA:84081
HP:0002060	Abnormal cerebral morphology	1497	CTNS	OMIM:219800
HP:0002060	Abnormal cerebral morphology	8671	SLC4A4	OMIM:604278
HP:0002060	Abnormal cerebral morphology	889	KRIT1	OMIM:116860
HP:0002060	Abnormal cerebral morphology	3394	IRF8	OMIM:226990
HP:0002060	Abnormal cerebral morphology	6773	STAT2	OMIM:618886
HP:0002060	Abnormal cerebral morphology	3117	HLA-DQA1	OMIM:212750
HP:0002060	Abnormal cerebral morphology	3119	HLA-DQB1	OMIM:212750
HP:0002060	Abnormal cerebral morphology	1280	COL2A1	ORPHA:85198
HP:0002060	Abnormal cerebral morphology	5167	ENPP1	ORPHA:51608
HP:0002060	Abnormal cerebral morphology	5167	ENPP1	ORPHA:758
HP:0002060	Abnormal cerebral morphology	368	ABCC6	ORPHA:51608
HP:0002060	Abnormal cerebral morphology	368	ABCC6	ORPHA:758
HP:0002060	Abnormal cerebral morphology	1836	SLC26A2	ORPHA:628
HP:0002060	Abnormal cerebral morphology	26137	ZBTB20	OMIM:259050
HP:0002060	Abnormal cerebral morphology	57169	ZNFX1	OMIM:619644
HP:0002060	Abnormal cerebral morphology	326	AIRE	ORPHA:3453
HP:0002060	Abnormal cerebral morphology	1893	ECM1	ORPHA:530
HP:0002060	Abnormal cerebral morphology	8643	PTCH2	ORPHA:377
HP:0002060	Abnormal cerebral morphology	4256	MGP	OMIM:245150
HP:0002060	Abnormal cerebral morphology	9365	KL	OMIM:617994
HP:0002060	Abnormal cerebral morphology	5741	PTH	OMIM:146200
HP:0002060	Abnormal cerebral morphology	10312	TCIRG1	ORPHA:1782
HP:0002060	Abnormal cerebral morphology	55315	SLC29A3	ORPHA:1782
HP:0002060	Abnormal cerebral morphology	8792	TNFRSF11A	ORPHA:1782
HP:0002060	Abnormal cerebral morphology	56160	NSMCE3	OMIM:617241
HP:0002060	Abnormal cerebral morphology	79650	USB1	ORPHA:1775
HP:0002060	Abnormal cerebral morphology	55135	WRAP53	ORPHA:1775
HP:0002060	Abnormal cerebral morphology	4869	NPM1	ORPHA:1775
HP:0002060	Abnormal cerebral morphology	7012	TERC	ORPHA:1775
HP:0002060	Abnormal cerebral morphology	1188	CLCNKB	ORPHA:358
HP:0002060	Abnormal cerebral morphology	6559	SLC12A3	ORPHA:358
HP:0002060	Abnormal cerebral morphology	51501	HIKESHI	OMIM:616881
HP:0002060	Abnormal cerebral morphology	79783	SUGCT	ORPHA:35706
HP:0002060	Abnormal cerebral morphology	54344	DPM3	OMIM:618992
HP:0002060	Abnormal cerebral morphology	122961	ISCA2	OMIM:616370
HP:0002060	Abnormal cerebral morphology	284217	LAMA1	OMIM:615960
HP:0002060	Abnormal cerebral morphology	7317	UBA1	ORPHA:1145
HP:0002060	Abnormal cerebral morphology	8560	DEGS1	OMIM:618404
HP:0002060	Abnormal cerebral morphology	54	ACP5	ORPHA:1855
HP:0002060	Abnormal cerebral morphology	8239	USP9X	ORPHA:480880
HP:0002060	Abnormal cerebral morphology	8239	USP9X	OMIM:300968
HP:0002060	Abnormal cerebral morphology	51008	ASCC1	OMIM:616867
HP:0002060	Abnormal cerebral morphology	80144	FRAS1	OMIM:219000
HP:0002060	Abnormal cerebral morphology	57511	COG6	OMIM:614576
HP:0002060	Abnormal cerebral morphology	79718	TBL1XR1	ORPHA:487825
HP:0002060	Abnormal cerebral morphology	137492	VPS37A	ORPHA:319199
HP:0002060	Abnormal cerebral morphology	535	ATP6V0A1	OMIM:619971
HP:0002060	Abnormal cerebral morphology	7355	SLC35A2	ORPHA:356961
HP:0002060	Abnormal cerebral morphology	3458	IFNG	ORPHA:805
HP:0002060	Abnormal cerebral morphology	1654	DDX3X	ORPHA:457260
HP:0002060	Abnormal cerebral morphology	6335	SCN9A	ORPHA:36387
HP:0002060	Abnormal cerebral morphology	112755	STX1B	ORPHA:36387
HP:0002060	Abnormal cerebral morphology	6326	SCN2A	ORPHA:36387
HP:0002060	Abnormal cerebral morphology	6323	SCN1A	ORPHA:36387
HP:0002060	Abnormal cerebral morphology	6324	SCN1B	ORPHA:36387
HP:0002060	Abnormal cerebral morphology	57194	ATP10A	ORPHA:411515
HP:0002060	Abnormal cerebral morphology	4921	DDR2	OMIM:271665
HP:0002060	Abnormal cerebral morphology	9853	RUSC2	OMIM:617773
HP:0002060	Abnormal cerebral morphology	83700	JAM3	OMIM:613730
HP:0002060	Abnormal cerebral morphology	53616	ADAM22	OMIM:617933
HP:0002060	Abnormal cerebral morphology	6571	SLC18A2	ORPHA:352649
HP:0002060	Abnormal cerebral morphology	22854	NTNG1	ORPHA:3095
HP:0002060	Abnormal cerebral morphology	55610	VPS50	OMIM:619685
HP:0002060	Abnormal cerebral morphology	51506	UFC1	OMIM:618076
HP:0002060	Abnormal cerebral morphology	6392	SDHD	OMIM:619167
HP:0002060	Abnormal cerebral morphology	22796	COG2	OMIM:617395
HP:0002060	Abnormal cerebral morphology	22796	COG2	ORPHA:435934
HP:0002060	Abnormal cerebral morphology	5119	CHMP1A	OMIM:614961
HP:0002060	Abnormal cerebral morphology	55858	TMEM165	OMIM:614727
HP:0002060	Abnormal cerebral morphology	54675	CRLS1	OMIM:620167
HP:0002060	Abnormal cerebral morphology	8604	SLC25A12	OMIM:612949
HP:0002060	Abnormal cerebral morphology	10087	CERT1	OMIM:616351
HP:0002060	Abnormal cerebral morphology	22884	WDR37	OMIM:618652
HP:0002060	Abnormal cerebral morphology	2903	GRIN2A	ORPHA:289266
HP:0002060	Abnormal cerebral morphology	3188	HNRNPH2	OMIM:300986
HP:0002060	Abnormal cerebral morphology	11212	PLPBP	OMIM:617290
HP:0002060	Abnormal cerebral morphology	57468	SLC12A5	OMIM:616645
HP:0002060	Abnormal cerebral morphology	539	ATP5PO	OMIM:620359
HP:0002060	Abnormal cerebral morphology	9440	MED17	OMIM:613668
HP:0002060	Abnormal cerebral morphology	125988	MICOS13	OMIM:618329
HP:0002060	Abnormal cerebral morphology	1719	DHFR	OMIM:613839
HP:0002060	Abnormal cerebral morphology	10079	ATP9A	OMIM:620242
HP:0002060	Abnormal cerebral morphology	51693	TRAPPC2L	OMIM:618331
HP:0002060	Abnormal cerebral morphology	57017	COQ9	OMIM:614654
HP:0002060	Abnormal cerebral morphology	27429	HTRA2	OMIM:617248
HP:0002060	Abnormal cerebral morphology	3329	HSPD1	OMIM:612233
HP:0002060	Abnormal cerebral morphology	55770	EXOC2	OMIM:619306
HP:0002060	Abnormal cerebral morphology	4668	NAGA	OMIM:609242
HP:0002060	Abnormal cerebral morphology	23229	ARHGEF9	OMIM:300607
HP:0002060	Abnormal cerebral morphology	114803	MYSM1	ORPHA:508542
HP:0002060	Abnormal cerebral morphology	80347	COASY	OMIM:618266
HP:0002060	Abnormal cerebral morphology	54903	MKS1	OMIM:249000
HP:0002060	Abnormal cerebral morphology	476	ATP1A1	ORPHA:564178
HP:0002060	Abnormal cerebral morphology	55733	HHAT	ORPHA:1422
HP:0002060	Abnormal cerebral morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002060	Abnormal cerebral morphology	9928	KIF14	OMIM:616258
HP:0002060	Abnormal cerebral morphology	56270	WDR45B	OMIM:617977
HP:0002060	Abnormal cerebral morphology	3295	HSD17B4	OMIM:261515
HP:0002060	Abnormal cerebral morphology	26227	PHGDH	ORPHA:79351
HP:0002060	Abnormal cerebral morphology	701	BUB1B	OMIM:257300
HP:0002060	Abnormal cerebral morphology	79989	IFT56	OMIM:619534
HP:0002060	Abnormal cerebral morphology	4208	MEF2C	ORPHA:228384
HP:0002060	Abnormal cerebral morphology	2892	GRIA3	OMIM:300699
HP:0002060	Abnormal cerebral morphology	3097	HIVEP2	OMIM:616977
HP:0002060	Abnormal cerebral morphology	220296	HEPACAM	OMIM:604004
HP:0002060	Abnormal cerebral morphology	23209	MLC1	OMIM:604004
HP:0002060	Abnormal cerebral morphology	1075	CTSC	OMIM:245000
HP:0002060	Abnormal cerebral morphology	80267	EDEM3	OMIM:619493
HP:0002060	Abnormal cerebral morphology	5091	PC	OMIM:266150
HP:0002060	Abnormal cerebral morphology	4718	NDUFC2	OMIM:619170
HP:0002060	Abnormal cerebral morphology	7874	USP7	ORPHA:500055
HP:0002060	Abnormal cerebral morphology	55621	TRMT1	OMIM:618302
HP:0002060	Abnormal cerebral morphology	79029	AFG2B	OMIM:619616
HP:0002060	Abnormal cerebral morphology	57479	PRR12	OMIM:619539
HP:0002060	Abnormal cerebral morphology	51002	TPRKB	OMIM:617731
HP:0002060	Abnormal cerebral morphology	57514	ARHGAP31	OMIM:100300
HP:0002060	Abnormal cerebral morphology	57514	ARHGAP31	ORPHA:974
HP:0002060	Abnormal cerebral morphology	4897	NRCAM	OMIM:619833
HP:0002060	Abnormal cerebral morphology	3098	HK1	OMIM:618547
HP:0002060	Abnormal cerebral morphology	23259	DDHD2	ORPHA:320380
HP:0002060	Abnormal cerebral morphology	26047	CNTNAP2	ORPHA:163681
HP:0002060	Abnormal cerebral morphology	2972	BRF1	ORPHA:444072
HP:0002060	Abnormal cerebral morphology	22880	MORC2	ORPHA:466768
HP:0002060	Abnormal cerebral morphology	375387	NRROS	OMIM:618875
HP:0002060	Abnormal cerebral morphology	200424	TET3	OMIM:618798
HP:0002060	Abnormal cerebral morphology	55753	OGDHL	OMIM:619701
HP:0002060	Abnormal cerebral morphology	4976	OPA1	OMIM:210000
HP:0002060	Abnormal cerebral morphology	3516	RBPJ	ORPHA:974
HP:0002060	Abnormal cerebral morphology	4851	NOTCH1	ORPHA:974
HP:0002060	Abnormal cerebral morphology	57572	DOCK6	ORPHA:974
HP:0002060	Abnormal cerebral morphology	285203	EOGT	ORPHA:974
HP:0002060	Abnormal cerebral morphology	54567	DLL4	ORPHA:974
HP:0002060	Abnormal cerebral morphology	57505	AARS2	OMIM:615889
HP:0002060	Abnormal cerebral morphology	9373	PLAA	OMIM:617527
HP:0002060	Abnormal cerebral morphology	84334	COA8	ORPHA:436271
HP:0002060	Abnormal cerebral morphology	3798	KIF5A	OMIM:617235
HP:0002060	Abnormal cerebral morphology	6389	SDHA	OMIM:252011
HP:0002060	Abnormal cerebral morphology	7846	TUBA1A	ORPHA:171680
HP:0002060	Abnormal cerebral morphology	4841	NONO	ORPHA:466791
HP:0002060	Abnormal cerebral morphology	4841	NONO	OMIM:300967
HP:0002060	Abnormal cerebral morphology	9791	PTDSS1	OMIM:151050
HP:0002060	Abnormal cerebral morphology	29899	GPSM2	OMIM:604213
HP:0002060	Abnormal cerebral morphology	4001	LMNB1	OMIM:619179
HP:0002060	Abnormal cerebral morphology	6651	SON	ORPHA:500150
HP:0002060	Abnormal cerebral morphology	6651	SON	OMIM:617140
HP:0002060	Abnormal cerebral morphology	9692	PRORP	OMIM:619737
HP:0002060	Abnormal cerebral morphology	4659	PPP1R12A	OMIM:618820
HP:0002060	Abnormal cerebral morphology	51807	TUBA8	ORPHA:250972
HP:0002060	Abnormal cerebral morphology	93627	TBCK	OMIM:616900
HP:0002060	Abnormal cerebral morphology	5361	PLXNA1	OMIM:619955
HP:0002060	Abnormal cerebral morphology	374969	SVBP	OMIM:618569
HP:0002060	Abnormal cerebral morphology	84081	NSRP1	OMIM:620001
HP:0002060	Abnormal cerebral morphology	124454	EARS2	OMIM:614924
HP:0002060	Abnormal cerebral morphology	83480	PUS3	ORPHA:488627
HP:0002060	Abnormal cerebral morphology	5286	PIK3C2A	ORPHA:557003
HP:0002060	Abnormal cerebral morphology	91647	ATPAF2	OMIM:604273
HP:0002060	Abnormal cerebral morphology	57192	MCOLN1	OMIM:252650
HP:0002060	Abnormal cerebral morphology	9786	KIAA0586	OMIM:616490
HP:0002060	Abnormal cerebral morphology	79228	THOC6	ORPHA:363444
HP:0002060	Abnormal cerebral morphology	23258	DENND5A	OMIM:617281
HP:0002060	Abnormal cerebral morphology	23309	SIN3B	ORPHA:500166
HP:0002060	Abnormal cerebral morphology	25942	SIN3A	ORPHA:500166
HP:0002060	Abnormal cerebral morphology	25942	SIN3A	OMIM:613406
HP:0002060	Abnormal cerebral morphology	10524	KAT5	OMIM:619103
HP:0002060	Abnormal cerebral morphology	205327	C2orf69	OMIM:619423
HP:0002060	Abnormal cerebral morphology	22978	NT5C2	OMIM:613162
HP:0002060	Abnormal cerebral morphology	5283	PIGH	OMIM:618010
HP:0002060	Abnormal cerebral morphology	23287	AGTPBP1	OMIM:618276
HP:0002060	Abnormal cerebral morphology	3313	HSPA9	OMIM:616854
HP:0002060	Abnormal cerebral morphology	283989	TSEN54	ORPHA:2524
HP:0002060	Abnormal cerebral morphology	116461	TSEN15	ORPHA:2524
HP:0002060	Abnormal cerebral morphology	79042	TSEN34	ORPHA:2524
HP:0002060	Abnormal cerebral morphology	80746	TSEN2	ORPHA:2524
HP:0002060	Abnormal cerebral morphology	51091	SEPSECS	ORPHA:2524
HP:0002060	Abnormal cerebral morphology	4953	ODC1	ORPHA:544488
HP:0002060	Abnormal cerebral morphology	25914	RTTN	OMIM:614833
HP:0002060	Abnormal cerebral morphology	55210	ATAD3A	OMIM:618810
HP:0002060	Abnormal cerebral morphology	1642	DDB1	OMIM:619426
HP:0002060	Abnormal cerebral morphology	79633	FAT4	ORPHA:314679
HP:0002060	Abnormal cerebral morphology	8642	DCHS1	ORPHA:314679
HP:0002060	Abnormal cerebral morphology	4713	NDUFB7	OMIM:620135
HP:0002060	Abnormal cerebral morphology	4358	MPV17	OMIM:256810
HP:0002060	Abnormal cerebral morphology	100147744	RNU7-1	OMIM:619487
HP:0002060	Abnormal cerebral morphology	3980	LIG3	OMIM:619780
HP:0002060	Abnormal cerebral morphology	8622	PDE8B	OMIM:609161
HP:0002060	Abnormal cerebral morphology	291	SLC25A4	ORPHA:254892
HP:0002060	Abnormal cerebral morphology	5428	POLG	ORPHA:254892
HP:0002060	Abnormal cerebral morphology	56652	TWNK	ORPHA:254892
HP:0002060	Abnormal cerebral morphology	11232	POLG2	ORPHA:254892
HP:0002060	Abnormal cerebral morphology	50484	RRM2B	ORPHA:254892
HP:0002060	Abnormal cerebral morphology	8635	RNASET2	OMIM:612951
HP:0002060	Abnormal cerebral morphology	23394	ADNP	ORPHA:404448
HP:0002060	Abnormal cerebral morphology	91574	MTRFR	ORPHA:320375
HP:0002060	Abnormal cerebral morphology	7248	TSC1	OMIM:607341
HP:0002060	Abnormal cerebral morphology	7249	TSC2	OMIM:607341
HP:0002060	Abnormal cerebral morphology	2475	MTOR	OMIM:607341
HP:0002060	Abnormal cerebral morphology	9839	ZEB2	ORPHA:261537
HP:0002060	Abnormal cerebral morphology	9839	ZEB2	ORPHA:261552
HP:0002060	Abnormal cerebral morphology	9839	ZEB2	OMIM:235730
HP:0002060	Abnormal cerebral morphology	545	ATR	OMIM:210600
HP:0002060	Abnormal cerebral morphology	728294	D2HGDH	OMIM:600721
HP:0002060	Abnormal cerebral morphology	51780	KDM3B	OMIM:618846
HP:0002060	Abnormal cerebral morphology	158	ADSL	ORPHA:46
HP:0002060	Abnormal cerebral morphology	7319	UBE2A	OMIM:300860
HP:0002060	Abnormal cerebral morphology	7319	UBE2A	ORPHA:163956
HP:0002060	Abnormal cerebral morphology	3908	LAMA2	OMIM:607855
HP:0002060	Abnormal cerebral morphology	135	ADORA2A	ORPHA:363549
HP:0002060	Abnormal cerebral morphology	2670	GFAP	ORPHA:363722
HP:0002060	Abnormal cerebral morphology	4952	OCRL	OMIM:309000
HP:0002060	Abnormal cerebral morphology	790955	UQCC3	OMIM:616111
HP:0002060	Abnormal cerebral morphology	2193	FARSA	OMIM:619013
HP:0002060	Abnormal cerebral morphology	7415	VCP	OMIM:167320
HP:0002060	Abnormal cerebral morphology	7415	VCP	ORPHA:100070
HP:0002060	Abnormal cerebral morphology	104	ADARB1	OMIM:618862
HP:0002060	Abnormal cerebral morphology	1528	CYB5A	ORPHA:621
HP:0002060	Abnormal cerebral morphology	1727	CYB5R3	ORPHA:621
HP:0002060	Abnormal cerebral morphology	9382	COG1	ORPHA:263508
HP:0002060	Abnormal cerebral morphology	54664	TMEM106B	ORPHA:100070
HP:0002060	Abnormal cerebral morphology	80025	PANK2	OMIM:607236
HP:0002060	Abnormal cerebral morphology	131118	DNAJC19	ORPHA:66634
HP:0002060	Abnormal cerebral morphology	1355	COX15	OMIM:615119
HP:0002060	Abnormal cerebral morphology	55967	NDUFA12	ORPHA:255241
HP:0002060	Abnormal cerebral morphology	51204	TACO1	ORPHA:255241
HP:0002060	Abnormal cerebral morphology	51204	TACO1	OMIM:619052
HP:0002060	Abnormal cerebral morphology	51079	NDUFA13	ORPHA:255241
HP:0002060	Abnormal cerebral morphology	4705	NDUFA10	ORPHA:255241
HP:0002060	Abnormal cerebral morphology	4697	NDUFA4	ORPHA:255241
HP:0002060	Abnormal cerebral morphology	4577	MT-TV	ORPHA:255210
HP:0002060	Abnormal cerebral morphology	4566	MT-TK	ORPHA:255210
HP:0002060	Abnormal cerebral morphology	57107	PDSS2	ORPHA:255249
HP:0002060	Abnormal cerebral morphology	57107	PDSS2	OMIM:614652
HP:0002060	Abnormal cerebral morphology	23435	TARDBP	ORPHA:275872
HP:0002060	Abnormal cerebral morphology	54453	RIN2	OMIM:613075
HP:0002060	Abnormal cerebral morphology	64857	PLEKHG2	OMIM:616763
HP:0002060	Abnormal cerebral morphology	55823	VPS11	ORPHA:466934
HP:0002060	Abnormal cerebral morphology	92609	TIMM50	ORPHA:505216
HP:0002060	Abnormal cerebral morphology	6792	CDKL5	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	3736	KCNA1	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	9091	PIGQ	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	2775	GNAO1	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	79751	SLC25A22	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	150094	SIK1	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	23312	DMXL2	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	2917	GRM7	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	51227	PIGP	ORPHA:1934
HP:0002060	Abnormal cerebral morphology	6513	SLC2A1	OMIM:608885
HP:0002060	Abnormal cerebral morphology	6513	SLC2A1	ORPHA:168577
HP:0002060	Abnormal cerebral morphology	4763	NF1	ORPHA:97685
HP:0002060	Abnormal cerebral morphology	3912	LAMB1	OMIM:615191
HP:0002060	Abnormal cerebral morphology	3912	LAMB1	ORPHA:352682
HP:0002060	Abnormal cerebral morphology	160418	TMTC3	OMIM:617255
HP:0002060	Abnormal cerebral morphology	1513	CTSK	ORPHA:763
HP:0002060	Abnormal cerebral morphology	9289	ADGRG1	OMIM:606854
HP:0002060	Abnormal cerebral morphology	9289	ADGRG1	ORPHA:101070
HP:0002060	Abnormal cerebral morphology	215	ABCD1	ORPHA:139399
HP:0002060	Abnormal cerebral morphology	5660	PSAP	OMIM:611722
HP:0002060	Abnormal cerebral morphology	6663	SOX10	OMIM:609136
HP:0002060	Abnormal cerebral morphology	5728	PTEN	ORPHA:101070
HP:0002060	Abnormal cerebral morphology	55777	MBD5	OMIM:156200
HP:0002060	Abnormal cerebral morphology	8813	DPM1	ORPHA:79322
HP:0002060	Abnormal cerebral morphology	79600	TCTN1	ORPHA:475
HP:0002060	Abnormal cerebral morphology	79600	TCTN1	ORPHA:564
HP:0002060	Abnormal cerebral morphology	91147	TMEM67	ORPHA:475
HP:0002060	Abnormal cerebral morphology	91147	TMEM67	ORPHA:564
HP:0002060	Abnormal cerebral morphology	91147	TMEM67	ORPHA:1454
HP:0002060	Abnormal cerebral morphology	200894	ARL13B	ORPHA:475
HP:0002060	Abnormal cerebral morphology	9731	CEP104	ORPHA:475
HP:0002060	Abnormal cerebral morphology	23247	KATNIP	ORPHA:475
HP:0002060	Abnormal cerebral morphology	219854	TMEM218	ORPHA:475
HP:0002060	Abnormal cerebral morphology	79867	TCTN2	ORPHA:475
HP:0002060	Abnormal cerebral morphology	79867	TCTN2	ORPHA:564
HP:0002060	Abnormal cerebral morphology	80776	B9D2	ORPHA:475
HP:0002060	Abnormal cerebral morphology	80776	B9D2	ORPHA:564
HP:0002060	Abnormal cerebral morphology	10464	PIBF1	ORPHA:475
HP:0002060	Abnormal cerebral morphology	23116	TOGARAM1	ORPHA:475
HP:0002060	Abnormal cerebral morphology	25776	CBY1	ORPHA:475
HP:0002060	Abnormal cerebral morphology	27077	B9D1	ORPHA:475
HP:0002060	Abnormal cerebral morphology	27077	B9D1	ORPHA:564
HP:0002060	Abnormal cerebral morphology	403	ARL3	ORPHA:475
HP:0002060	Abnormal cerebral morphology	3981	LIG4	ORPHA:235
HP:0002060	Abnormal cerebral morphology	54888	NSUN2	ORPHA:235
HP:0002060	Abnormal cerebral morphology	64327	LMBR1	ORPHA:2378
HP:0002060	Abnormal cerebral morphology	6925	TCF4	ORPHA:2896
HP:0002060	Abnormal cerebral morphology	154881	KCTD7	ORPHA:263516
HP:0002060	Abnormal cerebral morphology	51715	RAB23	OMIM:201000
HP:0002060	Abnormal cerebral morphology	84162	BLTP1	OMIM:617822
HP:0002060	Abnormal cerebral morphology	2314	FLII	ORPHA:819
HP:0002060	Abnormal cerebral morphology	23096	IQSEC2	ORPHA:819
HP:0002060	Abnormal cerebral morphology	10743	RAI1	ORPHA:819
HP:0002060	Abnormal cerebral morphology	10522	DEAF1	ORPHA:819
HP:0002060	Abnormal cerebral morphology	1717	DHCR7	ORPHA:818
HP:0002060	Abnormal cerebral morphology	51114	ZDHHC9	ORPHA:776
HP:0002060	Abnormal cerebral morphology	65109	UPF3B	ORPHA:776
HP:0002060	Abnormal cerebral morphology	10225	CD96	ORPHA:1308
HP:0002060	Abnormal cerebral morphology	79583	TMEM231	ORPHA:2318
HP:0002060	Abnormal cerebral morphology	79583	TMEM231	ORPHA:564
HP:0002060	Abnormal cerebral morphology	51524	TMEM138	ORPHA:2318
HP:0002060	Abnormal cerebral morphology	23090	ZNF423	ORPHA:2318
HP:0002060	Abnormal cerebral morphology	80184	CEP290	ORPHA:2318
HP:0002060	Abnormal cerebral morphology	80184	CEP290	ORPHA:564
HP:0002060	Abnormal cerebral morphology	10210	TOPORS	ORPHA:2754
HP:0002060	Abnormal cerebral morphology	5147	PDE6D	ORPHA:2754
HP:0002060	Abnormal cerebral morphology	317662	FAM149B1	ORPHA:2754
HP:0002060	Abnormal cerebral morphology	8260	NAA10	ORPHA:568
HP:0002060	Abnormal cerebral morphology	54880	BCOR	ORPHA:568
HP:0002060	Abnormal cerebral morphology	84314	TMEM107	ORPHA:564
HP:0002060	Abnormal cerebral morphology	57096	RPGRIP1	ORPHA:564
HP:0002060	Abnormal cerebral morphology	79770	TXNDC15	ORPHA:564
HP:0002060	Abnormal cerebral morphology	9184	BUB3	ORPHA:1052
HP:0002060	Abnormal cerebral morphology	9702	CEP57	ORPHA:1052
HP:0002060	Abnormal cerebral morphology	9319	TRIP13	ORPHA:1052
HP:0002060	Abnormal cerebral morphology	29980	DONSON	OMIM:251230
HP:0002060	Abnormal cerebral morphology	4099	MAG	OMIM:616680
HP:0002060	Abnormal cerebral morphology	64207	IRF2BPL	OMIM:618088
HP:0002060	Abnormal cerebral morphology	51728	POLR3K	OMIM:619310
HP:0002060	Abnormal cerebral morphology	10273	STUB1	ORPHA:412057
HP:0002060	Abnormal cerebral morphology	9255	AIMP1	OMIM:260600
HP:0002060	Abnormal cerebral morphology	51692	CPSF3	OMIM:619876
HP:0002060	Abnormal cerebral morphology	84188	FAR1	ORPHA:447753
HP:0002060	Abnormal cerebral morphology	27072	VPS41	OMIM:619389
HP:0002060	Abnormal cerebral morphology	23065	EMC1	OMIM:616875
HP:0002060	Abnormal cerebral morphology	23065	EMC1	ORPHA:480898
HP:0002060	Abnormal cerebral morphology	9409	PEX16	OMIM:614877
HP:0002060	Abnormal cerebral morphology	79944	L2HGDH	OMIM:236792
HP:0002060	Abnormal cerebral morphology	23636	NUP62	ORPHA:225154
HP:0002060	Abnormal cerebral morphology	6872	TAF1	OMIM:300966
HP:0002060	Abnormal cerebral morphology	3417	IDH1	ORPHA:99646
HP:0002060	Abnormal cerebral morphology	10128	LRPPRC	OMIM:220111
HP:0002060	Abnormal cerebral morphology	10617	STAMBP	OMIM:614261
HP:0002060	Abnormal cerebral morphology	55627	SMPD4	OMIM:618622
HP:0002060	Abnormal cerebral morphology	116115	ZNF526	OMIM:619877
HP:0002060	Abnormal cerebral morphology	8405	SPOP	OMIM:618828
HP:0002060	Abnormal cerebral morphology	1457	CSNK2A1	OMIM:617062
HP:0002060	Abnormal cerebral morphology	1062	CENPE	OMIM:616051
HP:0002060	Abnormal cerebral morphology	51124	IER3IP1	OMIM:614231
HP:0002060	Abnormal cerebral morphology	5859	QARS1	OMIM:615760
HP:0002060	Abnormal cerebral morphology	22983	MAST1	OMIM:618273
HP:0002060	Abnormal cerebral morphology	9442	MED27	OMIM:619286
HP:0002060	Abnormal cerebral morphology	10293	TRAIP	OMIM:616777
HP:0002060	Abnormal cerebral morphology	7280	TUBB2A	OMIM:615763
HP:0002060	Abnormal cerebral morphology	5591	PRKDC	OMIM:615966
HP:0002060	Abnormal cerebral morphology	79693	YRDC	OMIM:619609
HP:0002060	Abnormal cerebral morphology	7518	XRCC4	OMIM:616541
HP:0002060	Abnormal cerebral morphology	440	ASNS	OMIM:615574
HP:0002060	Abnormal cerebral morphology	7436	VLDLR	OMIM:224050
HP:0002060	Abnormal cerebral morphology	2744	GLS	OMIM:618328
HP:0002060	Abnormal cerebral morphology	10015	PDCD6IP	OMIM:620047
HP:0002060	Abnormal cerebral morphology	29968	PSAT1	ORPHA:284417
HP:0002060	Abnormal cerebral morphology	3832	KIF11	OMIM:152950
HP:0002060	Abnormal cerebral morphology	11284	PNKP	OMIM:613402
HP:0002060	Abnormal cerebral morphology	51053	GMNN	OMIM:616835
HP:0002060	Abnormal cerebral morphology	55644	OSGEP	OMIM:617729
HP:0002060	Abnormal cerebral morphology	7471	WNT1	OMIM:615220
HP:0002060	Abnormal cerebral morphology	1356	CP	ORPHA:48818
HP:0002060	Abnormal cerebral morphology	9918	NCAPD2	OMIM:617983
HP:0002060	Abnormal cerebral morphology	1984	EIF5A	OMIM:619376
HP:0002060	Abnormal cerebral morphology	6045	RNF2	OMIM:619460
HP:0002060	Abnormal cerebral morphology	79023	NUP37	OMIM:618179
HP:0002060	Abnormal cerebral morphology	4905	NSF	OMIM:619340
HP:0002060	Abnormal cerebral morphology	9181	ARHGEF2	OMIM:617523
HP:0002060	Abnormal cerebral morphology	5071	PRKN	OMIM:600116
HP:0002060	Abnormal cerebral morphology	4287	ATXN3	ORPHA:276238
HP:0002060	Abnormal cerebral morphology	4287	ATXN3	ORPHA:276244
HP:0002060	Abnormal cerebral morphology	4287	ATXN3	ORPHA:276241
HP:0002060	Abnormal cerebral morphology	2747	GLUD2	OMIM:168600
HP:0002060	Abnormal cerebral morphology	126	ADH1C	OMIM:168600
HP:0002060	Abnormal cerebral morphology	4137	MAPT	OMIM:168600
HP:0002060	Abnormal cerebral morphology	6908	TBP	OMIM:168600
HP:0002060	Abnormal cerebral morphology	4576	MT-TT	OMIM:168600
HP:0002060	Abnormal cerebral morphology	9627	SNCAIP	OMIM:168600
HP:0002060	Abnormal cerebral morphology	6315	ATXN8OS	OMIM:168600
HP:0002060	Abnormal cerebral morphology	25793	FBXO7	ORPHA:171695
HP:0002060	Abnormal cerebral morphology	3178	HNRNPA1	ORPHA:52430
HP:0002060	Abnormal cerebral morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0002060	Abnormal cerebral morphology	4692	NDN	ORPHA:177904
HP:0002060	Abnormal cerebral morphology	4692	NDN	ORPHA:177901
HP:0002060	Abnormal cerebral morphology	4692	NDN	ORPHA:98754
HP:0002060	Abnormal cerebral morphology	54551	MAGEL2	ORPHA:177904
HP:0002060	Abnormal cerebral morphology	54551	MAGEL2	ORPHA:177901
HP:0002060	Abnormal cerebral morphology	54551	MAGEL2	ORPHA:98754
HP:0002060	Abnormal cerebral morphology	4948	OCA2	ORPHA:177904
HP:0002060	Abnormal cerebral morphology	4948	OCA2	ORPHA:177901
HP:0002060	Abnormal cerebral morphology	4948	OCA2	ORPHA:98754
HP:0002060	Abnormal cerebral morphology	26278	SACS	ORPHA:98
HP:0002060	Abnormal cerebral morphology	10430	TMEM147	OMIM:620075
HP:0002060	Abnormal cerebral morphology	85440	DOCK7	ORPHA:411986
HP:0002060	Abnormal cerebral morphology	137682	NDUFAF6	OMIM:618239
HP:0002060	Abnormal cerebral morphology	3975	LHX1	ORPHA:261265
HP:0002060	Abnormal cerebral morphology	23729	SHPK	ORPHA:440713
HP:0002060	Abnormal cerebral morphology	10195	ALG3	ORPHA:79321
HP:0002060	Abnormal cerebral morphology	91949	COG7	ORPHA:79333
HP:0002060	Abnormal cerebral morphology	23028	KDM1A	ORPHA:477993
HP:0002060	Abnormal cerebral morphology	23028	KDM1A	OMIM:616728
HP:0002060	Abnormal cerebral morphology	10381	TUBB3	ORPHA:467166
HP:0002060	Abnormal cerebral morphology	85365	ALG2	ORPHA:79326
HP:0002060	Abnormal cerebral morphology	23474	ETHE1	ORPHA:51188
HP:0002060	Abnormal cerebral morphology	2737	GLI3	ORPHA:672
HP:0002060	Abnormal cerebral morphology	10367	MICU1	ORPHA:401768
HP:0002060	Abnormal cerebral morphology	8802	SUCLG1	ORPHA:17
HP:0002060	Abnormal cerebral morphology	55532	SLC30A10	ORPHA:309854
HP:0002060	Abnormal cerebral morphology	443	ASPA	ORPHA:314918
HP:0002060	Abnormal cerebral morphology	56947	MFF	ORPHA:485421
HP:0002060	Abnormal cerebral morphology	133686	NADK2	ORPHA:431361
HP:0002060	Abnormal cerebral morphology	22868	FASTKD2	OMIM:618855
HP:0002060	Abnormal cerebral morphology	4508	MT-ATP6	ORPHA:644
HP:0002060	Abnormal cerebral morphology	84705	GTPBP3	ORPHA:444013
HP:0002060	Abnormal cerebral morphology	56997	COQ8A	ORPHA:139485
HP:0002060	Abnormal cerebral morphology	10398	MYL9	OMIM:619365
HP:0002060	Abnormal cerebral morphology	84668	HYCC1	OMIM:610532
HP:0002060	Abnormal cerebral morphology	5654	HTRA1	OMIM:616779
HP:0002060	Abnormal cerebral morphology	203068	TUBB	OMIM:615771
HP:0002060	Abnormal cerebral morphology	410	ARSA	ORPHA:309271
HP:0002060	Abnormal cerebral morphology	410	ARSA	ORPHA:309263
HP:0002060	Abnormal cerebral morphology	410	ARSA	ORPHA:309256
HP:0002060	Abnormal cerebral morphology	1267	CNP	OMIM:619071
HP:0002060	Abnormal cerebral morphology	2760	GM2A	ORPHA:309246
HP:0002060	Abnormal cerebral morphology	387119	CEP85L	ORPHA:572013
HP:0002060	Abnormal cerebral morphology	23499	MACF1	OMIM:618325
HP:0002060	Abnormal cerebral morphology	84504	NKX6-2	ORPHA:527497
HP:0002060	Abnormal cerebral morphology	23516	SLC39A14	OMIM:617013
HP:0002060	Abnormal cerebral morphology	23516	SLC39A14	ORPHA:521406
HP:0002060	Abnormal cerebral morphology	1593	CYP27A1	ORPHA:909
HP:0002060	Abnormal cerebral morphology	79853	TM4SF20	OMIM:615432
HP:0002060	Abnormal cerebral morphology	1822	ATN1	ORPHA:101
HP:0002060	Abnormal cerebral morphology	221496	LEMD2	OMIM:619322
HP:0002060	Abnormal cerebral morphology	5917	RARS1	ORPHA:438114
HP:0002060	Abnormal cerebral morphology	10000	AKT3	ORPHA:99802
HP:0002060	Abnormal cerebral morphology	8913	CACNA1G	ORPHA:458803
HP:0002060	Abnormal cerebral morphology	63899	NSUN3	OMIM:619012
HP:0002060	Abnormal cerebral morphology	6572	SLC18A3	OMIM:617239
HP:0002060	Abnormal cerebral morphology	815	CAMK2A	OMIM:617798
HP:0002060	Abnormal cerebral morphology	2055	CLN8	ORPHA:1947
HP:0002060	Abnormal cerebral morphology	6821	SUOX	OMIM:272300
HP:0002060	Abnormal cerebral morphology	9420	CYP7B1	OMIM:270800
HP:0002060	Abnormal cerebral morphology	191	AHCY	ORPHA:88618
HP:0002060	Abnormal cerebral morphology	6390	SDHB	OMIM:619224
HP:0002060	Abnormal cerebral morphology	9907	AP5Z1	ORPHA:306511
HP:0002060	Abnormal cerebral morphology	9907	AP5Z1	OMIM:613647
HP:0002060	Abnormal cerebral morphology	55154	MSTO1	ORPHA:502423
HP:0002060	Abnormal cerebral morphology	5297	PI4KA	OMIM:619708
HP:0002060	Abnormal cerebral morphology	51324	SPG21	OMIM:248900
HP:0002060	Abnormal cerebral morphology	84065	TMEM222	OMIM:619470
HP:0002060	Abnormal cerebral morphology	7555	CNBP	OMIM:602668
HP:0002060	Abnormal cerebral morphology	6134	RPL10	OMIM:300998
HP:0002060	Abnormal cerebral morphology	5058	PAK1	OMIM:618158
HP:0002060	Abnormal cerebral morphology	4761	NEUROD2	OMIM:618374
HP:0002060	Abnormal cerebral morphology	92335	STRADA	ORPHA:500533
HP:0002060	Abnormal cerebral morphology	7920	ABHD16A	OMIM:619735
HP:0002060	Abnormal cerebral morphology	85465	SELENOI	OMIM:618768
HP:0002060	Abnormal cerebral morphology	80036	TRPM3	OMIM:620224
HP:0002060	Abnormal cerebral morphology	10060	ABCC9	OMIM:619719
HP:0002060	Abnormal cerebral morphology	23503	ZFYVE26	ORPHA:100996
HP:0002060	Abnormal cerebral morphology	51102	MECR	ORPHA:508093
HP:0002060	Abnormal cerebral morphology	7283	TUBG1	OMIM:615412
HP:0002060	Abnormal cerebral morphology	3796	KIF2A	OMIM:615411
HP:0002060	Abnormal cerebral morphology	5903	RANBP2	ORPHA:88619
HP:0002060	Abnormal cerebral morphology	1778	DYNC1H1	OMIM:614563
HP:0002060	Abnormal cerebral morphology	23446	SLC44A1	OMIM:618868
HP:0002060	Abnormal cerebral morphology	54676	GTPBP2	OMIM:617988
HP:0002060	Abnormal cerebral morphology	9757	KMT2B	ORPHA:589618
HP:0002060	Abnormal cerebral morphology	64601	VPS16	OMIM:619291
HP:0002060	Abnormal cerebral morphology	57003	CCDC47	OMIM:618268
HP:0002060	Abnormal cerebral morphology	9759	HDAC4	OMIM:619797
HP:0002060	Abnormal cerebral morphology	7862	BRPF1	OMIM:617333
HP:0002060	Abnormal cerebral morphology	343450	KCNT2	OMIM:617771
HP:0002060	Abnormal cerebral morphology	23040	MYT1L	OMIM:616521
HP:0002060	Abnormal cerebral morphology	3839	KPNA3	OMIM:620106
HP:0002060	Abnormal cerebral morphology	4329	ALDH6A1	OMIM:614105
HP:0002060	Abnormal cerebral morphology	347734	SLC35B2	OMIM:620269
HP:0002060	Abnormal cerebral morphology	3008	H1-4	OMIM:617537
HP:0002060	Abnormal cerebral morphology	90624	LYRM7	OMIM:615838
HP:0002060	Abnormal cerebral morphology	1119	CHKA	OMIM:620023
HP:0002060	Abnormal cerebral morphology	93210	PGAP3	OMIM:615716
HP:0002060	Abnormal cerebral morphology	83475	DOHH	OMIM:620066
HP:0002060	Abnormal cerebral morphology	11198	SUPT16H	OMIM:619480
HP:0002060	Abnormal cerebral morphology	54828	BCAS3	OMIM:619641
HP:0002060	Abnormal cerebral morphology	374354	NHLRC2	OMIM:618278
HP:0002060	Abnormal cerebral morphology	2316	FLNA	OMIM:300049
HP:0002060	Abnormal cerebral morphology	55182	RNF220	OMIM:619688
HP:0002060	Abnormal cerebral morphology	166378	AFG2A	OMIM:616577
HP:0002060	Abnormal cerebral morphology	23031	MAST3	OMIM:620115
HP:0002060	Abnormal cerebral morphology	6509	SLC1A4	OMIM:616657
HP:0002060	Abnormal cerebral morphology	6595	SMARCA2	OMIM:619293
HP:0002060	Abnormal cerebral morphology	5934	RBL2	OMIM:619690
HP:0002060	Abnormal cerebral morphology	7143	TNR	OMIM:619653
HP:0002060	Abnormal cerebral morphology	23250	ATP11A	OMIM:619851
HP:0002060	Abnormal cerebral morphology	92255	LMBRD2	OMIM:619694
HP:0002060	Abnormal cerebral morphology	111	ADCY5	OMIM:619651
HP:0002060	Abnormal cerebral morphology	1107	CHD3	OMIM:618205
HP:0002060	Abnormal cerebral morphology	9439	MED23	OMIM:614249
HP:0002060	Abnormal cerebral morphology	819	CAMLG	OMIM:620201
HP:0002060	Abnormal cerebral morphology	2898	GRIK2	OMIM:619580
HP:0002060	Abnormal cerebral morphology	26175	LYSET	OMIM:619345
HP:0002060	Abnormal cerebral morphology	283987	HID1	OMIM:619983
HP:0002060	Abnormal cerebral morphology	10159	ATP6AP2	OMIM:300423
HP:0002060	Abnormal cerebral morphology	5442	POLRMT	OMIM:619743
HP:0002060	Abnormal cerebral morphology	127833	SYT2	OMIM:619461
HP:0002060	Abnormal cerebral morphology	1892	ECHS1	OMIM:616277
HP:0002060	Abnormal cerebral morphology	2720	GLB1	OMIM:253010
HP:0002060	Abnormal cerebral morphology	221927	BRAT1	OMIM:614498
HP:0002060	Abnormal cerebral morphology	4338	MOCS2	OMIM:252160
HP:0002060	Abnormal cerebral morphology	3708	ITPR1	OMIM:206700
HP:0002060	Abnormal cerebral morphology	9230	RAB11B	OMIM:617807
HP:0002060	Abnormal cerebral morphology	7074	TIAM1	OMIM:619908
HP:0002060	Abnormal cerebral morphology	10533	ATG7	OMIM:619422
HP:0002060	Abnormal cerebral morphology	2261	FGFR3	OMIM:187601
HP:0002060	Abnormal cerebral morphology	55252	ASXL2	OMIM:617190
HP:0002060	Abnormal cerebral morphology	4704	NDUFA9	OMIM:618247
HP:0002060	Abnormal cerebral morphology	375	ARF1	OMIM:618185
HP:0002060	Abnormal cerebral morphology	3658	IREB2	OMIM:618451
HP:0002060	Abnormal cerebral morphology	4929	NR4A2	OMIM:619911
HP:0002060	Abnormal cerebral morphology	4488	MSX2	ORPHA:60015
HP:0002060	Abnormal cerebral morphology	55901	THSD1	ORPHA:231160
HP:0002060	Abnormal cerebral morphology	7049	TGFBR3	ORPHA:231160
HP:0002060	Abnormal cerebral morphology	83854	ANGPTL6	ORPHA:231160
HP:0002060	Abnormal cerebral morphology	54704	PDP1	ORPHA:79246
HP:0002060	Abnormal cerebral morphology	2548	GAA	ORPHA:308552
HP:0002060	Abnormal cerebral morphology	2643	GCH1	ORPHA:98808
HP:0002060	Abnormal cerebral morphology	3615	IMPDH2	ORPHA:98808
HP:0002060	Abnormal cerebral morphology	29960	MRM2	OMIM:618567
HP:0002060	Abnormal cerebral morphology	5610	EIF2AK2	OMIM:618877
HP:0002060	Abnormal cerebral morphology	10846	PDE10A	OMIM:616921
HP:0002060	Abnormal cerebral morphology	10846	PDE10A	ORPHA:494526
HP:0002060	Abnormal cerebral morphology	6857	SYT1	ORPHA:522077
HP:0002060	Abnormal cerebral morphology	1301	COL11A1	OMIM:154780
HP:0002060	Abnormal cerebral morphology	7072	TIA1	OMIM:619133
HP:0002060	Abnormal cerebral morphology	6620	SNCB	OMIM:127750
HP:0002060	Abnormal cerebral morphology	7957	EPM2A	OMIM:254780
HP:0002060	Abnormal cerebral morphology	7957	EPM2A	ORPHA:501
HP:0002060	Abnormal cerebral morphology	378884	NHLRC1	OMIM:254780
HP:0002060	Abnormal cerebral morphology	378884	NHLRC1	ORPHA:501
HP:0002060	Abnormal cerebral morphology	56978	PRDM8	ORPHA:324290
HP:0002060	Abnormal cerebral morphology	56978	PRDM8	OMIM:616640
HP:0002060	Abnormal cerebral morphology	6091	ROBO1	ORPHA:95496
HP:0002060	Abnormal cerebral morphology	23432	GPR161	ORPHA:95496
HP:0002060	Abnormal cerebral morphology	54805	CNNM2	OMIM:616418
HP:0002060	Abnormal cerebral morphology	26005	C2CD3	ORPHA:434179
HP:0002060	Abnormal cerebral morphology	129685	TAF8	OMIM:619972
HP:0002060	Abnormal cerebral morphology	57094	CPA6	OMIM:614418
HP:0002061	Lower limb spasticity	3912	LAMB1	OMIM:615191
HP:0002061	Lower limb spasticity	8504	PEX3	OMIM:617370
HP:0002061	Lower limb spasticity	79621	RNASEH2B	OMIM:610181
HP:0002061	Lower limb spasticity	4125	MAN2B1	ORPHA:309282
HP:0002061	Lower limb spasticity	9131	AIFM1	ORPHA:83629
HP:0002061	Lower limb spasticity	6567	SLC16A2	OMIM:300523
HP:0002061	Lower limb spasticity	55182	RNF220	OMIM:619688
HP:0002061	Lower limb spasticity	518	ATP5MC3	OMIM:619681
HP:0002061	Lower limb spasticity	5077	PAX3	ORPHA:896
HP:0002061	Lower limb spasticity	5077	PAX3	OMIM:148820
HP:0002061	Lower limb spasticity	10166	SLC25A15	ORPHA:415
HP:0002061	Lower limb spasticity	10166	SLC25A15	OMIM:238970
HP:0002061	Lower limb spasticity	25778	DSTYK	OMIM:270750
HP:0002061	Lower limb spasticity	25778	DSTYK	ORPHA:101003
HP:0002061	Lower limb spasticity	51324	SPG21	OMIM:248900
HP:0002061	Lower limb spasticity	10059	DNM1L	ORPHA:98673
HP:0002061	Lower limb spasticity	4976	OPA1	ORPHA:98673
HP:0002061	Lower limb spasticity	4976	OPA1	ORPHA:1215
HP:0002061	Lower limb spasticity	64834	ELOVL1	OMIM:618527
HP:0002061	Lower limb spasticity	7920	ABHD16A	OMIM:619735
HP:0002061	Lower limb spasticity	114034	TOE1	OMIM:614969
HP:0002061	Lower limb spasticity	546	ATRX	ORPHA:847
HP:0002061	Lower limb spasticity	1130	LYST	ORPHA:167
HP:0002061	Lower limb spasticity	26154	ABCA12	OMIM:601277
HP:0002061	Lower limb spasticity	2632	GBE1	OMIM:263570
HP:0002061	Lower limb spasticity	776	CACNA1D	ORPHA:369929
HP:0002061	Lower limb spasticity	113612	CYP2U1	OMIM:615030
HP:0002061	Lower limb spasticity	113612	CYP2U1	ORPHA:320411
HP:0002061	Lower limb spasticity	9895	TECPR2	OMIM:615031
HP:0002061	Lower limb spasticity	6812	STXBP1	OMIM:612164
HP:0002061	Lower limb spasticity	23259	DDHD2	OMIM:615033
HP:0002061	Lower limb spasticity	23259	DDHD2	ORPHA:320380
HP:0002061	Lower limb spasticity	56270	WDR45B	OMIM:617977
HP:0002061	Lower limb spasticity	8050	PDHX	OMIM:245349
HP:0002061	Lower limb spasticity	23064	SETX	ORPHA:357043
HP:0002061	Lower limb spasticity	953	ENTPD1	OMIM:615683
HP:0002061	Lower limb spasticity	83636	C19orf12	OMIM:615043
HP:0002061	Lower limb spasticity	23204	ARL6IP1	OMIM:615685
HP:0002061	Lower limb spasticity	271	AMPD2	OMIM:615686
HP:0002061	Lower limb spasticity	2629	GBA1	ORPHA:2072
HP:0002061	Lower limb spasticity	4099	MAG	ORPHA:459056
HP:0002061	Lower limb spasticity	8139	GAN	OMIM:256850
HP:0002061	Lower limb spasticity	84842	HPDL	OMIM:619026
HP:0002061	Lower limb spasticity	84842	HPDL	OMIM:619027
HP:0002061	Lower limb spasticity	84706	GPT2	ORPHA:477673
HP:0002061	Lower limb spasticity	55656	INTS8	OMIM:618572
HP:0002061	Lower limb spasticity	51308	REEP2	OMIM:615625
HP:0002061	Lower limb spasticity	137492	VPS37A	OMIM:614898
HP:0002061	Lower limb spasticity	51062	ATL1	ORPHA:100984
HP:0002061	Lower limb spasticity	51062	ATL1	OMIM:182600
HP:0002061	Lower limb spasticity	23111	SPART	OMIM:275900
HP:0002061	Lower limb spasticity	4524	MTHFR	ORPHA:395
HP:0002061	Lower limb spasticity	8367	H4C5	OMIM:619950
HP:0002061	Lower limb spasticity	340533	NEXMIF	OMIM:300912
HP:0002061	Lower limb spasticity	1183	CLCN4	OMIM:300114
HP:0002061	Lower limb spasticity	1183	CLCN4	ORPHA:485350
HP:0002061	Lower limb spasticity	6683	SPAST	ORPHA:100985
HP:0002061	Lower limb spasticity	6683	SPAST	OMIM:182601
HP:0002061	Lower limb spasticity	57165	GJC2	ORPHA:320401
HP:0002061	Lower limb spasticity	57165	GJC2	OMIM:613206
HP:0002061	Lower limb spasticity	9420	CYP7B1	ORPHA:100986
HP:0002061	Lower limb spasticity	9420	CYP7B1	OMIM:270800
HP:0002061	Lower limb spasticity	23345	SYNE1	ORPHA:88644
HP:0002061	Lower limb spasticity	123606	NIPA1	ORPHA:100988
HP:0002061	Lower limb spasticity	123606	NIPA1	OMIM:600363
HP:0002061	Lower limb spasticity	80821	DDHD1	OMIM:609340
HP:0002061	Lower limb spasticity	80821	DDHD1	ORPHA:101008
HP:0002061	Lower limb spasticity	57704	GBA2	ORPHA:352641
HP:0002061	Lower limb spasticity	57704	GBA2	ORPHA:320391
HP:0002061	Lower limb spasticity	57704	GBA2	OMIM:614409
HP:0002061	Lower limb spasticity	23314	SATB2	ORPHA:251028
HP:0002061	Lower limb spasticity	775	CACNA1C	OMIM:620029
HP:0002061	Lower limb spasticity	51412	ACTL6B	OMIM:618468
HP:0002061	Lower limb spasticity	4758	NEU1	ORPHA:93399
HP:0002061	Lower limb spasticity	1161	ERCC8	ORPHA:90321
HP:0002061	Lower limb spasticity	1161	ERCC8	ORPHA:90322
HP:0002061	Lower limb spasticity	2072	ERCC4	ORPHA:90321
HP:0002061	Lower limb spasticity	2074	ERCC6	ORPHA:90321
HP:0002061	Lower limb spasticity	2074	ERCC6	ORPHA:90322
HP:0002061	Lower limb spasticity	2067	ERCC1	ORPHA:90322
HP:0002061	Lower limb spasticity	170302	ARX	ORPHA:94083
HP:0002061	Lower limb spasticity	170302	ARX	OMIM:309510
HP:0002061	Lower limb spasticity	81790	RNF170	OMIM:619686
HP:0002061	Lower limb spasticity	6647	SOD1	OMIM:618598
HP:0002061	Lower limb spasticity	5917	RARS1	ORPHA:438114
HP:0002061	Lower limb spasticity	5917	RARS1	OMIM:616140
HP:0002061	Lower limb spasticity	57156	TMEM63C	OMIM:619966
HP:0002061	Lower limb spasticity	27102	EIF2AK1	OMIM:618878
HP:0002061	Lower limb spasticity	3897	L1CAM	OMIM:303350
HP:0002061	Lower limb spasticity	84340	GFM2	ORPHA:565624
HP:0002061	Lower limb spasticity	7345	UCHL1	OMIM:615491
HP:0002061	Lower limb spasticity	7345	UCHL1	OMIM:620221
HP:0002061	Lower limb spasticity	816	CAMK2B	OMIM:617799
HP:0002061	Lower limb spasticity	51741	WWOX	OMIM:614322
HP:0002061	Lower limb spasticity	10342	TFG	OMIM:615658
HP:0002061	Lower limb spasticity	118813	ZFYVE27	OMIM:610244
HP:0002061	Lower limb spasticity	4361	MRE11	OMIM:604391
HP:0002061	Lower limb spasticity	823	CAPN1	OMIM:616907
HP:0002061	Lower limb spasticity	823	CAPN1	ORPHA:488594
HP:0002061	Lower limb spasticity	5832	ALDH18A1	OMIM:601162
HP:0002061	Lower limb spasticity	2583	B4GALNT1	ORPHA:101006
HP:0002061	Lower limb spasticity	2583	B4GALNT1	OMIM:609195
HP:0002061	Lower limb spasticity	57599	WDR48	ORPHA:401800
HP:0002061	Lower limb spasticity	26278	SACS	ORPHA:98
HP:0002061	Lower limb spasticity	5277	PIGA	OMIM:300868
HP:0002061	Lower limb spasticity	65055	REEP1	OMIM:610250
HP:0002061	Lower limb spasticity	11160	ERLIN2	OMIM:611225
HP:0002061	Lower limb spasticity	6304	SATB1	OMIM:619229
HP:0002061	Lower limb spasticity	27010	TPK1	OMIM:614458
HP:0002061	Lower limb spasticity	4204	MECP2	ORPHA:3077
HP:0002061	Lower limb spasticity	4204	MECP2	OMIM:300260
HP:0002061	Lower limb spasticity	6513	SLC2A1	ORPHA:98811
HP:0002061	Lower limb spasticity	112476	PRRT2	ORPHA:98811
HP:0002061	Lower limb spasticity	220296	HEPACAM	OMIM:613925
HP:0002061	Lower limb spasticity	4953	ODC1	OMIM:619075
HP:0002061	Lower limb spasticity	91574	MTRFR	OMIM:615035
HP:0002061	Lower limb spasticity	91574	MTRFR	ORPHA:320375
HP:0002061	Lower limb spasticity	51501	HIKESHI	OMIM:616881
HP:0002061	Lower limb spasticity	1213	CLTC	OMIM:617854
HP:0002061	Lower limb spasticity	9354	UBE4A	OMIM:619639
HP:0002061	Lower limb spasticity	22931	RAB18	OMIM:614222
HP:0002061	Lower limb spasticity	9289	ADGRG1	ORPHA:98889
HP:0002061	Lower limb spasticity	5297	PI4KA	ORPHA:98889
HP:0002061	Lower limb spasticity	27286	SRPX2	ORPHA:98889
HP:0002061	Lower limb spasticity	26047	CNTNAP2	ORPHA:163681
HP:0002061	Lower limb spasticity	79759	ZNF668	OMIM:620194
HP:0002061	Lower limb spasticity	10613	ERLIN1	ORPHA:401785
HP:0002061	Lower limb spasticity	10613	ERLIN1	OMIM:615681
HP:0002061	Lower limb spasticity	23503	ZFYVE26	OMIM:270700
HP:0002061	Lower limb spasticity	23503	ZFYVE26	ORPHA:100996
HP:0002061	Lower limb spasticity	79796	ALG9	ORPHA:79328
HP:0002061	Lower limb spasticity	25814	ATXN10	ORPHA:98761
HP:0002061	Lower limb spasticity	57459	GATAD2B	ORPHA:363686
HP:0002061	Lower limb spasticity	2521	FUS	ORPHA:300605
HP:0002061	Lower limb spasticity	80208	SPG11	ORPHA:300605
HP:0002061	Lower limb spasticity	80208	SPG11	OMIM:604360
HP:0002061	Lower limb spasticity	10280	SIGMAR1	ORPHA:300605
HP:0002061	Lower limb spasticity	10280	SIGMAR1	OMIM:614373
HP:0002061	Lower limb spasticity	10558	SPTLC1	ORPHA:300605
HP:0002061	Lower limb spasticity	57679	ALS2	ORPHA:300605
HP:0002061	Lower limb spasticity	57679	ALS2	OMIM:205100
HP:0002061	Lower limb spasticity	22978	NT5C2	ORPHA:320396
HP:0002061	Lower limb spasticity	22978	NT5C2	OMIM:613162
HP:0002061	Lower limb spasticity	1615	DARS1	OMIM:615281
HP:0002061	Lower limb spasticity	9409	PEX16	OMIM:614877
HP:0002061	Lower limb spasticity	64135	IFIH1	OMIM:615846
HP:0002061	Lower limb spasticity	57038	RARS2	OMIM:611523
HP:0002061	Lower limb spasticity	9338	TCEAL1	OMIM:301094
HP:0002061	Lower limb spasticity	2593	GAMT	OMIM:612736
HP:0002061	Lower limb spasticity	9101	USP8	ORPHA:401795
HP:0002061	Lower limb spasticity	23299	BICD2	OMIM:615290
HP:0002061	Lower limb spasticity	6904	TBCD	OMIM:617193
HP:0002061	Lower limb spasticity	10273	STUB1	ORPHA:412057
HP:0002061	Lower limb spasticity	3329	HSPD1	OMIM:605280
HP:0002061	Lower limb spasticity	3329	HSPD1	ORPHA:100994
HP:0002061	Lower limb spasticity	131118	DNAJC19	ORPHA:66634
HP:0002061	Lower limb spasticity	7415	VCP	OMIM:613954
HP:0002061	Lower limb spasticity	5660	PSAP	ORPHA:206436
HP:0002061	Lower limb spasticity	200403	VWA3B	OMIM:616948
HP:0002061	Lower limb spasticity	85021	REPS1	OMIM:617916
HP:0002061	Lower limb spasticity	6509	SLC1A4	ORPHA:447997
HP:0002061	Lower limb spasticity	26580	BSCL2	OMIM:270685
HP:0002061	Lower limb spasticity	6843	VAMP1	ORPHA:251282
HP:0002061	Lower limb spasticity	3798	KIF5A	ORPHA:100991
HP:0002061	Lower limb spasticity	3798	KIF5A	OMIM:604187
HP:0002061	Lower limb spasticity	27072	VPS41	OMIM:619389
HP:0002061	Lower limb spasticity	84274	COQ5	OMIM:619028
HP:0002061	Lower limb spasticity	25793	FBXO7	OMIM:260300
HP:0002061	Lower limb spasticity	51763	INPP5K	OMIM:617404
HP:0002061	Lower limb spasticity	84265	POLR3GL	OMIM:619234
HP:0002061	Lower limb spasticity	10159	ATP6AP2	ORPHA:363654
HP:0002061	Lower limb spasticity	55532	SLC30A10	ORPHA:309854
HP:0002061	Lower limb spasticity	55532	SLC30A10	OMIM:613280
HP:0002061	Lower limb spasticity	1593	CYP27A1	ORPHA:909
HP:0002061	Lower limb spasticity	54902	TTC19	OMIM:615157
HP:0002061	Lower limb spasticity	9255	AIMP1	OMIM:260600
HP:0002061	Lower limb spasticity	3425	IDUA	ORPHA:93474
HP:0002061	Lower limb spasticity	3425	IDUA	ORPHA:93473
HP:0002061	Lower limb spasticity	54880	BCOR	OMIM:300166
HP:0002061	Lower limb spasticity	2670	GFAP	ORPHA:363722
HP:0002061	Lower limb spasticity	440193	CCDC88C	OMIM:616053
HP:0002061	Lower limb spasticity	440193	CCDC88C	ORPHA:423275
HP:0002061	Lower limb spasticity	80207	OPA3	ORPHA:67047
HP:0002061	Lower limb spasticity	125988	MICOS13	ORPHA:67047
HP:0002061	Lower limb spasticity	80347	COASY	OMIM:615643
HP:0002061	Lower limb spasticity	80347	COASY	ORPHA:397725
HP:0002061	Lower limb spasticity	1910	EDNRB	OMIM:277580
HP:0002061	Lower limb spasticity	11152	WDR45	ORPHA:329284
HP:0002061	Lower limb spasticity	11152	WDR45	OMIM:300894
HP:0002061	Lower limb spasticity	93587	TRMT10A	ORPHA:391408
HP:0002061	Lower limb spasticity	84919	PPP1R15B	ORPHA:391408
HP:0002061	Lower limb spasticity	6663	SOX10	OMIM:609136
HP:0002061	Lower limb spasticity	55149	MTPAP	OMIM:613672
HP:0002061	Lower limb spasticity	55149	MTPAP	ORPHA:254343
HP:0002061	Lower limb spasticity	6390	SDHB	ORPHA:3208
HP:0002061	Lower limb spasticity	6392	SDHD	ORPHA:3208
HP:0002061	Lower limb spasticity	644096	SDHAF1	ORPHA:3208
HP:0002061	Lower limb spasticity	10939	AFG3L2	OMIM:614487
HP:0002061	Lower limb spasticity	10939	AFG3L2	ORPHA:313772
HP:0002061	Lower limb spasticity	383	ARG1	OMIM:207800
HP:0002061	Lower limb spasticity	2806	GOT2	OMIM:618721
HP:0002061	Lower limb spasticity	84188	FAR1	OMIM:619338
HP:0002061	Lower limb spasticity	686	BTD	ORPHA:79241
HP:0002061	Lower limb spasticity	5428	POLG	ORPHA:726
HP:0002061	Lower limb spasticity	23389	MED13L	ORPHA:369891
HP:0002061	Lower limb spasticity	7276	TTR	OMIM:105210
HP:0002061	Lower limb spasticity	2697	GJA1	ORPHA:2710
HP:0002061	Lower limb spasticity	224	ALDH3A2	OMIM:270200
HP:0002061	Lower limb spasticity	4860	PNP	ORPHA:760
HP:0002061	Lower limb spasticity	58497	PRUNE1	ORPHA:544469
HP:0002061	Lower limb spasticity	10535	RNASEH2A	ORPHA:51
HP:0002061	Lower limb spasticity	84153	RNASEH2C	ORPHA:51
HP:0002061	Lower limb spasticity	25939	SAMHD1	ORPHA:51
HP:0002061	Lower limb spasticity	103	ADAR	ORPHA:51
HP:0002061	Lower limb spasticity	11277	TREX1	ORPHA:51
HP:0002061	Lower limb spasticity	100147744	RNU7-1	ORPHA:51
HP:0002061	Lower limb spasticity	134353	LSM11	ORPHA:51
HP:0002061	Lower limb spasticity	25782	RAB3GAP2	ORPHA:401830
HP:0002061	Lower limb spasticity	6389	SDHA	ORPHA:255241
HP:0002061	Lower limb spasticity	80704	SLC19A3	ORPHA:255241
HP:0002061	Lower limb spasticity	91942	NDUFAF2	ORPHA:255241
HP:0002061	Lower limb spasticity	6834	SURF1	ORPHA:255241
HP:0002061	Lower limb spasticity	4723	NDUFV1	ORPHA:255241
HP:0002061	Lower limb spasticity	55572	FOXRED1	ORPHA:255241
HP:0002061	Lower limb spasticity	4729	NDUFV2	ORPHA:255241
HP:0002061	Lower limb spasticity	55967	NDUFA12	ORPHA:255241
HP:0002061	Lower limb spasticity	51204	TACO1	ORPHA:255241
HP:0002061	Lower limb spasticity	4720	NDUFS2	ORPHA:255241
HP:0002061	Lower limb spasticity	4724	NDUFS4	ORPHA:255241
HP:0002061	Lower limb spasticity	4728	NDUFS8	ORPHA:255241
HP:0002061	Lower limb spasticity	137682	NDUFAF6	ORPHA:255241
HP:0002061	Lower limb spasticity	4722	NDUFS3	ORPHA:255241
HP:0002061	Lower limb spasticity	79133	NDUFAF5	ORPHA:255241
HP:0002061	Lower limb spasticity	5160	PDHA1	ORPHA:255241
HP:0002061	Lower limb spasticity	100131801	PET100	ORPHA:255241
HP:0002061	Lower limb spasticity	1355	COX15	ORPHA:255241
HP:0002061	Lower limb spasticity	1892	ECHS1	ORPHA:255241
HP:0002061	Lower limb spasticity	123263	MTFMT	ORPHA:255241
HP:0002061	Lower limb spasticity	51079	NDUFA13	ORPHA:255241
HP:0002061	Lower limb spasticity	374291	NDUFS7	ORPHA:255241
HP:0002061	Lower limb spasticity	4705	NDUFA10	ORPHA:255241
HP:0002061	Lower limb spasticity	51601	LIPT1	ORPHA:255241
HP:0002061	Lower limb spasticity	4719	NDUFS1	ORPHA:255241
HP:0002061	Lower limb spasticity	4695	NDUFA2	ORPHA:255241
HP:0002061	Lower limb spasticity	4697	NDUFA4	ORPHA:255241
HP:0002061	Lower limb spasticity	4704	NDUFA9	ORPHA:255241
HP:0002061	Lower limb spasticity	85465	SELENOI	ORPHA:506353
HP:0002061	Lower limb spasticity	10717	AP4B1	ORPHA:280763
HP:0002061	Lower limb spasticity	9179	AP4M1	ORPHA:280763
HP:0002061	Lower limb spasticity	11154	AP4S1	ORPHA:280763
HP:0002061	Lower limb spasticity	23431	AP4E1	ORPHA:280763
HP:0002061	Lower limb spasticity	547	KIF1A	ORPHA:101010
HP:0002061	Lower limb spasticity	23769	FLRT1	ORPHA:320406
HP:0002061	Lower limb spasticity	64837	KLC2	ORPHA:320406
HP:0002061	Lower limb spasticity	9897	WASHC5	ORPHA:100989
HP:0002061	Lower limb spasticity	8242	KDM5C	OMIM:300534
HP:0002061	Lower limb spasticity	340075	ARSI	ORPHA:401815
HP:0002061	Lower limb spasticity	9197	SLC33A1	ORPHA:171863
HP:0002061	Lower limb spasticity	4141	MARS1	ORPHA:401835
HP:0002061	Lower limb spasticity	339855	KY	ORPHA:496689
HP:0002061	Lower limb spasticity	57498	KIDINS220	ORPHA:521390
HP:0002061	Lower limb spasticity	10908	PNPLA6	OMIM:612020
HP:0002061	Lower limb spasticity	22948	CCT5	ORPHA:139578
HP:0002061	Lower limb spasticity	4508	MT-ATP6	ORPHA:320360
HP:0002061	Lower limb spasticity	51663	ZFR	ORPHA:401840
HP:0002061	Lower limb spasticity	6253	RTN2	ORPHA:100993
HP:0002061	Lower limb spasticity	51271	UBAP1	ORPHA:100993
HP:0002061	Lower limb spasticity	126129	CPT1C	ORPHA:444099
HP:0002061	Lower limb spasticity	200205	IBA57	ORPHA:468661
HP:0002061	Lower limb spasticity	57531	HACE1	ORPHA:464282
HP:0002061	Lower limb spasticity	23400	ATP13A2	ORPHA:513436
HP:0002061	Lower limb spasticity	5354	PLP1	ORPHA:280234
HP:0002061	Lower limb spasticity	80055	PGAP1	ORPHA:401820
HP:0002061	Lower limb spasticity	3839	KPNA3	ORPHA:171612
HP:0002061	Lower limb spasticity	79152	FA2H	ORPHA:329308
HP:0002061	Lower limb spasticity	9907	AP5Z1	ORPHA:306511
HP:0002061	Lower limb spasticity	10667	FARS2	ORPHA:466722
HP:0002061	Lower limb spasticity	6687	SPG7	ORPHA:35689
HP:0002061	Lower limb spasticity	2581	GALC	ORPHA:206448
HP:0002061	Lower limb spasticity	215	ABCD1	ORPHA:139399
HP:0002061	Lower limb spasticity	6905	TBCE	ORPHA:496756
HP:0002062	Morphological abnormality of the pyramidal tract	5621	PRNP	ORPHA:356
HP:0002062	Morphological abnormality of the pyramidal tract	9217	VAPB	OMIM:608627
HP:0002062	Morphological abnormality of the pyramidal tract	724066	ATXN8	OMIM:608768
HP:0002062	Morphological abnormality of the pyramidal tract	6315	ATXN8OS	OMIM:608768
HP:0002062	Morphological abnormality of the pyramidal tract	9131	AIFM1	ORPHA:83629
HP:0002062	Morphological abnormality of the pyramidal tract	3748	KCNC3	OMIM:605259
HP:0002062	Morphological abnormality of the pyramidal tract	11277	TREX1	OMIM:225750
HP:0002062	Morphological abnormality of the pyramidal tract	25814	ATXN10	OMIM:603516
HP:0002062	Morphological abnormality of the pyramidal tract	4137	MAPT	OMIM:260540
HP:0002062	Morphological abnormality of the pyramidal tract	80169	CTC1	OMIM:612199
HP:0002062	Morphological abnormality of the pyramidal tract	8575	PRKRA	OMIM:612067
HP:0002062	Morphological abnormality of the pyramidal tract	8398	PLA2G6	OMIM:256600
HP:0002062	Morphological abnormality of the pyramidal tract	6531	SLC6A3	OMIM:613135
HP:0002062	Morphological abnormality of the pyramidal tract	6513	SLC2A1	OMIM:601042
HP:0002062	Morphological abnormality of the pyramidal tract	80704	SLC19A3	OMIM:607483
HP:0002062	Morphological abnormality of the pyramidal tract	1807	DPYS	OMIM:222748
HP:0002062	Morphological abnormality of the pyramidal tract	79944	L2HGDH	OMIM:236792
HP:0002062	Morphological abnormality of the pyramidal tract	8139	GAN	OMIM:256850
HP:0002062	Morphological abnormality of the pyramidal tract	6253	RTN2	ORPHA:100993
HP:0002062	Morphological abnormality of the pyramidal tract	51271	UBAP1	ORPHA:100993
HP:0002062	Morphological abnormality of the pyramidal tract	126129	CPT1C	ORPHA:444099
HP:0002062	Morphological abnormality of the pyramidal tract	9897	WASHC5	OMIM:603563
HP:0002062	Morphological abnormality of the pyramidal tract	9897	WASHC5	ORPHA:100989
HP:0002062	Morphological abnormality of the pyramidal tract	123606	NIPA1	OMIM:600363
HP:0002062	Morphological abnormality of the pyramidal tract	6687	SPG7	OMIM:607259
HP:0002062	Morphological abnormality of the pyramidal tract	3839	KPNA3	ORPHA:171612
HP:0002062	Morphological abnormality of the pyramidal tract	9197	SLC33A1	ORPHA:171863
HP:0002062	Morphological abnormality of the pyramidal tract	6683	SPAST	OMIM:182601
HP:0002062	Morphological abnormality of the pyramidal tract	51062	ATL1	OMIM:182600
HP:0002062	Morphological abnormality of the pyramidal tract	6647	SOD1	OMIM:105400
HP:0002062	Morphological abnormality of the pyramidal tract	5630	PRPH	OMIM:105400
HP:0002062	Morphological abnormality of the pyramidal tract	1639	DCTN1	OMIM:105400
HP:0002062	Morphological abnormality of the pyramidal tract	4744	NEFH	OMIM:105400
HP:0002062	Morphological abnormality of the pyramidal tract	5354	PLP1	OMIM:312920
HP:0002062	Morphological abnormality of the pyramidal tract	2521	FUS	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	8878	SQSTM1	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	7415	VCP	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	23435	TARDBP	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	29110	TBK1	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	400916	CHCHD10	ORPHA:275872
HP:0002062	Morphological abnormality of the pyramidal tract	80208	SPG11	OMIM:604360
HP:0002062	Morphological abnormality of the pyramidal tract	5888	RAD51	ORPHA:238722
HP:0002062	Morphological abnormality of the pyramidal tract	10126	DNAL4	ORPHA:238722
HP:0002062	Morphological abnormality of the pyramidal tract	9423	NTN1	ORPHA:238722
HP:0002062	Morphological abnormality of the pyramidal tract	1630	DCC	ORPHA:238722
HP:0002062	Morphological abnormality of the pyramidal tract	2581	GALC	ORPHA:206448
HP:0002062	Morphological abnormality of the pyramidal tract	57679	ALS2	OMIM:607225
HP:0002062	Morphological abnormality of the pyramidal tract	2314	FLII	ORPHA:819
HP:0002062	Morphological abnormality of the pyramidal tract	23096	IQSEC2	ORPHA:819
HP:0002062	Morphological abnormality of the pyramidal tract	10743	RAI1	ORPHA:819
HP:0002062	Morphological abnormality of the pyramidal tract	10522	DEAF1	ORPHA:819
HP:0002062	Morphological abnormality of the pyramidal tract	5162	PDHB	ORPHA:255138
HP:0002062	Morphological abnormality of the pyramidal tract	3897	L1CAM	OMIM:307000
HP:0002062	Morphological abnormality of the pyramidal tract	4508	MT-ATP6	ORPHA:644
HP:0002062	Morphological abnormality of the pyramidal tract	4508	MT-ATP6	OMIM:551500
HP:0002062	Morphological abnormality of the pyramidal tract	2218	FKTN	OMIM:253800
HP:0002062	Morphological abnormality of the pyramidal tract	477	ATP1A2	OMIM:619602
HP:0002062	Morphological abnormality of the pyramidal tract	6804	STX1A	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	7461	CLIP2	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	84277	DNAJC30	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	8468	FKBP6	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	5982	RFC2	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	2969	GTF2I	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	3984	LIMK1	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	9569	GTF2IRD1	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	155382	VPS37D	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	155368	METTL27	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	114049	BUD23	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	7458	EIF4H	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	84163	GTF2IRD2	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	9275	BCL7B	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	26608	TBL2	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	653361	NCF1	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	135886	TMEM270	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	51085	MLXIPL	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	9031	BAZ1B	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	2006	ELN	ORPHA:904
HP:0002062	Morphological abnormality of the pyramidal tract	215	ABCD1	ORPHA:139399
HP:0002063	Rigidity	2639	GCDH	ORPHA:25
HP:0002063	Rigidity	2639	GCDH	OMIM:231670
HP:0002063	Rigidity	3064	HTT	ORPHA:399
HP:0002063	Rigidity	3064	HTT	OMIM:143100
HP:0002063	Rigidity	3064	HTT	ORPHA:248111
HP:0002063	Rigidity	6515	SLC2A3	ORPHA:399
HP:0002063	Rigidity	51062	ATL1	ORPHA:100984
HP:0002063	Rigidity	26058	GIGYF2	OMIM:607688
HP:0002063	Rigidity	26058	GIGYF2	ORPHA:411602
HP:0002063	Rigidity	4287	ATXN3	OMIM:109150
HP:0002063	Rigidity	4137	MAPT	OMIM:601104
HP:0002063	Rigidity	4137	MAPT	ORPHA:240094
HP:0002063	Rigidity	4137	MAPT	ORPHA:240085
HP:0002063	Rigidity	4137	MAPT	ORPHA:240103
HP:0002063	Rigidity	4137	MAPT	OMIM:260540
HP:0002063	Rigidity	4137	MAPT	OMIM:168600
HP:0002063	Rigidity	7384	UQCRC1	OMIM:619279
HP:0002063	Rigidity	55532	SLC30A10	ORPHA:309854
HP:0002063	Rigidity	55532	SLC30A10	OMIM:613280
HP:0002063	Rigidity	54832	VPS13C	OMIM:616840
HP:0002063	Rigidity	54832	VPS13C	ORPHA:2828
HP:0002063	Rigidity	4967	OGDH	OMIM:203740
HP:0002063	Rigidity	9256	TSPOAP1	ORPHA:101150
HP:0002063	Rigidity	7054	TH	ORPHA:101150
HP:0002063	Rigidity	7054	TH	OMIM:605407
HP:0002063	Rigidity	1119	CHKA	OMIM:620023
HP:0002063	Rigidity	27235	COQ2	OMIM:146500
HP:0002063	Rigidity	27235	COQ2	ORPHA:98933
HP:0002063	Rigidity	27235	COQ2	ORPHA:227510
HP:0002063	Rigidity	57165	GJC2	OMIM:608804
HP:0002063	Rigidity	4016	LOXL1	OMIM:177650
HP:0002063	Rigidity	1436	CSF1R	OMIM:618476
HP:0002063	Rigidity	1436	CSF1R	OMIM:221820
HP:0002063	Rigidity	51741	WWOX	OMIM:616211
HP:0002063	Rigidity	51741	WWOX	ORPHA:442835
HP:0002063	Rigidity	6311	ATXN2	OMIM:183090
HP:0002063	Rigidity	6311	ATXN2	OMIM:168600
HP:0002063	Rigidity	80347	COASY	OMIM:615643
HP:0002063	Rigidity	10501	SEMA6B	OMIM:618876
HP:0002063	Rigidity	5610	EIF2AK2	OMIM:618877
HP:0002063	Rigidity	137682	NDUFAF6	OMIM:618239
HP:0002063	Rigidity	3939	LDHA	OMIM:612933
HP:0002063	Rigidity	11152	WDR45	ORPHA:329284
HP:0002063	Rigidity	11152	WDR45	OMIM:300894
HP:0002063	Rigidity	9829	DNAJC6	OMIM:615528
HP:0002063	Rigidity	9829	DNAJC6	ORPHA:2828
HP:0002063	Rigidity	9829	DNAJC6	ORPHA:391411
HP:0002063	Rigidity	1410	CRYAB	OMIM:613869
HP:0002063	Rigidity	100996717	NOTCH2NLC	OMIM:603472
HP:0002063	Rigidity	23400	ATP13A2	ORPHA:314632
HP:0002063	Rigidity	23400	ATP13A2	OMIM:606693
HP:0002063	Rigidity	23400	ATP13A2	ORPHA:306674
HP:0002063	Rigidity	5071	PRKN	OMIM:600116
HP:0002063	Rigidity	5071	PRKN	ORPHA:2828
HP:0002063	Rigidity	8867	SYNJ1	OMIM:615530
HP:0002063	Rigidity	8867	SYNJ1	ORPHA:2828
HP:0002063	Rigidity	8867	SYNJ1	ORPHA:442835
HP:0002063	Rigidity	8867	SYNJ1	ORPHA:391411
HP:0002063	Rigidity	55572	FOXRED1	OMIM:618241
HP:0002063	Rigidity	7343	UBTF	OMIM:617672
HP:0002063	Rigidity	55037	PTCD3	OMIM:619057
HP:0002063	Rigidity	55737	VPS35	OMIM:614203
HP:0002063	Rigidity	55737	VPS35	ORPHA:411602
HP:0002063	Rigidity	8622	PDE8B	OMIM:609161
HP:0002063	Rigidity	8622	PDE8B	ORPHA:228169
HP:0002063	Rigidity	79947	DHDDS	OMIM:617836
HP:0002063	Rigidity	79947	DHDDS	ORPHA:442835
HP:0002063	Rigidity	2629	GBA1	ORPHA:411602
HP:0002063	Rigidity	2629	GBA1	OMIM:230900
HP:0002063	Rigidity	2629	GBA1	OMIM:168600
HP:0002063	Rigidity	23317	DNAJC13	ORPHA:411602
HP:0002063	Rigidity	1981	EIF4G1	ORPHA:411602
HP:0002063	Rigidity	1981	EIF4G1	OMIM:614251
HP:0002063	Rigidity	120892	LRRK2	ORPHA:411602
HP:0002063	Rigidity	120892	LRRK2	ORPHA:2828
HP:0002063	Rigidity	120892	LRRK2	OMIM:607060
HP:0002063	Rigidity	6622	SNCA	ORPHA:411602
HP:0002063	Rigidity	6622	SNCA	ORPHA:2828
HP:0002063	Rigidity	6622	SNCA	ORPHA:171695
HP:0002063	Rigidity	6622	SNCA	OMIM:168601
HP:0002063	Rigidity	2260	FGFR1	ORPHA:2396
HP:0002063	Rigidity	3845	KRAS	ORPHA:2396
HP:0002063	Rigidity	6575	SLC20A2	OMIM:213600
HP:0002063	Rigidity	5155	PDGFB	OMIM:213600
HP:0002063	Rigidity	5159	PDGFRB	OMIM:213600
HP:0002063	Rigidity	1509	CTSD	OMIM:610127
HP:0002063	Rigidity	2332	FMR1	ORPHA:93256
HP:0002063	Rigidity	5805	PTS	ORPHA:13
HP:0002063	Rigidity	5805	PTS	OMIM:261640
HP:0002063	Rigidity	51102	MECR	OMIM:617282
HP:0002063	Rigidity	11315	PARK7	OMIM:606324
HP:0002063	Rigidity	11315	PARK7	ORPHA:2828
HP:0002063	Rigidity	80856	LNPK	OMIM:618090
HP:0002063	Rigidity	5903	RANBP2	ORPHA:88619
HP:0002063	Rigidity	2743	GLRB	ORPHA:3197
HP:0002063	Rigidity	2741	GLRA1	ORPHA:3197
HP:0002063	Rigidity	10243	GPHN	ORPHA:3197
HP:0002063	Rigidity	84896	ATAD1	ORPHA:3197
HP:0002063	Rigidity	9152	SLC6A5	ORPHA:3197
HP:0002063	Rigidity	80821	DDHD1	ORPHA:101008
HP:0002063	Rigidity	7345	UCHL1	OMIM:613643
HP:0002063	Rigidity	7345	UCHL1	ORPHA:2828
HP:0002063	Rigidity	8398	PLA2G6	OMIM:612953
HP:0002063	Rigidity	8398	PLA2G6	ORPHA:199351
HP:0002063	Rigidity	27429	HTRA2	ORPHA:2828
HP:0002063	Rigidity	27429	HTRA2	OMIM:610297
HP:0002063	Rigidity	5420	PODXL	ORPHA:2828
HP:0002063	Rigidity	5420	PODXL	ORPHA:391411
HP:0002063	Rigidity	65018	PINK1	ORPHA:2828
HP:0002063	Rigidity	65018	PINK1	OMIM:605909
HP:0002063	Rigidity	3737	KCNA2	ORPHA:442835
HP:0002063	Rigidity	1759	DNM1	ORPHA:442835
HP:0002063	Rigidity	8120	AP3B2	ORPHA:442835
HP:0002063	Rigidity	523	ATP6V1A	ORPHA:442835
HP:0002063	Rigidity	10991	SLC38A3	ORPHA:442835
HP:0002063	Rigidity	51343	FZR1	ORPHA:442835
HP:0002063	Rigidity	22906	TRAK1	ORPHA:442835
HP:0002063	Rigidity	1917	EEF1A2	ORPHA:442835
HP:0002063	Rigidity	2561	GABRB2	ORPHA:442835
HP:0002063	Rigidity	8831	SYNGAP1	ORPHA:442835
HP:0002063	Rigidity	7532	YWHAG	ORPHA:442835
HP:0002063	Rigidity	79876	UBA5	ORPHA:442835
HP:0002063	Rigidity	6328	SCN3A	ORPHA:442835
HP:0002063	Rigidity	2558	GABRA5	ORPHA:442835
HP:0002063	Rigidity	781	CACNA2D1	ORPHA:442835
HP:0002063	Rigidity	2906	GRIN2D	ORPHA:442835
HP:0002063	Rigidity	116150	NUS1	ORPHA:442835
HP:0002063	Rigidity	10659	CELF2	ORPHA:442835
HP:0002063	Rigidity	774	CACNA1B	ORPHA:442835
HP:0002063	Rigidity	1213	CLTC	ORPHA:442835
HP:0002063	Rigidity	23334	SZT2	ORPHA:442835
HP:0002063	Rigidity	51412	ACTL6B	ORPHA:442835
HP:0002063	Rigidity	348980	HCN1	ORPHA:442835
HP:0002063	Rigidity	6506	SLC1A2	ORPHA:442835
HP:0002063	Rigidity	2258	FGF13	ORPHA:442835
HP:0002063	Rigidity	477	ATP1A2	ORPHA:442835
HP:0002063	Rigidity	477	ATP1A2	ORPHA:2131
HP:0002063	Rigidity	3745	KCNB1	ORPHA:442835
HP:0002063	Rigidity	284111	SLC13A5	ORPHA:442835
HP:0002063	Rigidity	25977	NECAP1	ORPHA:442835
HP:0002063	Rigidity	16	AARS1	ORPHA:442835
HP:0002063	Rigidity	16	AARS1	OMIM:619661
HP:0002063	Rigidity	6334	SCN8A	ORPHA:442835
HP:0002063	Rigidity	22866	CNKSR2	ORPHA:442835
HP:0002063	Rigidity	9568	GABBR2	ORPHA:442835
HP:0002063	Rigidity	2555	GABRA2	ORPHA:442835
HP:0002063	Rigidity	55152	DALRD3	ORPHA:442835
HP:0002063	Rigidity	773	CACNA1A	ORPHA:442835
HP:0002063	Rigidity	773	CACNA1A	ORPHA:2131
HP:0002063	Rigidity	26999	CYFIP2	ORPHA:442835
HP:0002063	Rigidity	4915	NTRK2	ORPHA:442835
HP:0002063	Rigidity	25973	PARS2	ORPHA:442835
HP:0002063	Rigidity	23097	CDK19	ORPHA:442835
HP:0002063	Rigidity	64801	ARV1	ORPHA:442835
HP:0002063	Rigidity	2257	FGF12	ORPHA:442835
HP:0002063	Rigidity	5530	PPP3CA	ORPHA:442835
HP:0002063	Rigidity	478	ATP1A3	ORPHA:442835
HP:0002063	Rigidity	478	ATP1A3	ORPHA:2131
HP:0002063	Rigidity	10382	TUBB4A	OMIM:612438
HP:0002063	Rigidity	64374	SIL1	ORPHA:559
HP:0002063	Rigidity	51763	INPP5K	ORPHA:559
HP:0002063	Rigidity	6908	TBP	OMIM:607136
HP:0002063	Rigidity	6908	TBP	ORPHA:98759
HP:0002063	Rigidity	6908	TBP	OMIM:168600
HP:0002063	Rigidity	112476	PRRT2	ORPHA:98810
HP:0002063	Rigidity	25953	PNKD	ORPHA:98810
HP:0002063	Rigidity	57338	JPH3	OMIM:606438
HP:0002063	Rigidity	5654	HTRA1	ORPHA:199354
HP:0002063	Rigidity	5654	HTRA1	OMIM:600142
HP:0002063	Rigidity	26154	ABCA12	OMIM:242500
HP:0002063	Rigidity	4204	MECP2	OMIM:300673
HP:0002063	Rigidity	4204	MECP2	OMIM:300260
HP:0002063	Rigidity	2512	FTL	OMIM:606159
HP:0002063	Rigidity	23259	DDHD2	OMIM:615033
HP:0002063	Rigidity	58494	JAM2	OMIM:618824
HP:0002063	Rigidity	4929	NR4A2	ORPHA:98808
HP:0002063	Rigidity	4929	NR4A2	OMIM:619911
HP:0002063	Rigidity	4929	NR4A2	OMIM:168600
HP:0002063	Rigidity	3615	IMPDH2	ORPHA:98808
HP:0002063	Rigidity	6507	SLC1A3	ORPHA:2131
HP:0002063	Rigidity	58	ACTA1	OMIM:161800
HP:0002063	Rigidity	5582	PRKCG	ORPHA:98763
HP:0002063	Rigidity	80025	PANK2	OMIM:234200
HP:0002063	Rigidity	80025	PANK2	ORPHA:216873
HP:0002063	Rigidity	6609	SMPD1	OMIM:257200
HP:0002063	Rigidity	6697	SPR	ORPHA:70594
HP:0002063	Rigidity	724066	ATXN8	ORPHA:98760
HP:0002063	Rigidity	6315	ATXN8OS	ORPHA:98760
HP:0002063	Rigidity	6315	ATXN8OS	OMIM:168600
HP:0002063	Rigidity	4644	MYO5A	ORPHA:33445
HP:0002063	Rigidity	170302	ARX	ORPHA:3175
HP:0002063	Rigidity	1718	DHCR24	ORPHA:35107
HP:0002063	Rigidity	2670	GFAP	ORPHA:363722
HP:0002063	Rigidity	128240	NAXE	OMIM:617186
HP:0002063	Rigidity	10939	AFG3L2	ORPHA:101109
HP:0002063	Rigidity	3832	KIF11	ORPHA:2526
HP:0002063	Rigidity	9373	PLAA	ORPHA:521426
HP:0002063	Rigidity	9373	PLAA	OMIM:617527
HP:0002063	Rigidity	9409	PEX16	OMIM:614877
HP:0002063	Rigidity	540	ATP7B	OMIM:277900
HP:0002063	Rigidity	2593	GAMT	OMIM:612736
HP:0002063	Rigidity	6261	RYR1	OMIM:145600
HP:0002063	Rigidity	5660	PSAP	OMIM:619491
HP:0002063	Rigidity	25978	CHMP2B	OMIM:600795
HP:0002063	Rigidity	8573	CASK	ORPHA:163937
HP:0002063	Rigidity	10273	STUB1	ORPHA:412057
HP:0002063	Rigidity	100151683	RNU4ATAC	ORPHA:2636
HP:0002063	Rigidity	51308	REEP2	ORPHA:401849
HP:0002063	Rigidity	25793	FBXO7	ORPHA:171695
HP:0002063	Rigidity	25793	FBXO7	OMIM:260300
HP:0002063	Rigidity	51142	CHCHD2	OMIM:616710
HP:0002063	Rigidity	221927	BRAT1	OMIM:614498
HP:0002063	Rigidity	9445	ITM2B	OMIM:176500
HP:0002063	Rigidity	2747	GLUD2	OMIM:168600
HP:0002063	Rigidity	126	ADH1C	OMIM:168600
HP:0002063	Rigidity	4576	MT-TT	OMIM:168600
HP:0002063	Rigidity	9627	SNCAIP	OMIM:168600
HP:0002063	Rigidity	1639	DCTN1	OMIM:168605
HP:0002063	Rigidity	291	SLC25A4	ORPHA:254892
HP:0002063	Rigidity	5428	POLG	ORPHA:254892
HP:0002063	Rigidity	5428	POLG	ORPHA:254886
HP:0002063	Rigidity	56652	TWNK	ORPHA:254892
HP:0002063	Rigidity	11232	POLG2	ORPHA:254892
HP:0002063	Rigidity	50484	RRM2B	ORPHA:254892
HP:0002063	Rigidity	3752	KCND3	ORPHA:98772
HP:0002063	Rigidity	3752	KCND3	OMIM:607346
HP:0002063	Rigidity	4311	MME	ORPHA:497764
HP:0002063	Rigidity	2643	GCH1	OMIM:128230
HP:0002063	Rigidity	7084	TK2	ORPHA:254886
HP:0002063	Rigidity	4508	MT-ATP6	ORPHA:225154
HP:0002063	Rigidity	23636	NUP62	ORPHA:225154
HP:0002063	Rigidity	103	ADAR	ORPHA:225154
HP:0002063	Rigidity	10159	ATP6AP2	OMIM:300911
HP:0002063	Rigidity	10159	ATP6AP2	ORPHA:363654
HP:0002063	Rigidity	1600	DAB1	ORPHA:363710
HP:0002063	Rigidity	3739	KCNA4	OMIM:618284
HP:0002063	Rigidity	23732	FRRS1L	OMIM:616981
HP:0002063	Rigidity	116442	RAB39B	ORPHA:2379
HP:0002063	Rigidity	116442	RAB39B	OMIM:311510
HP:0002063	Rigidity	1356	CP	OMIM:604290
HP:0002063	Rigidity	6531	SLC6A3	OMIM:613135
HP:0002063	Rigidity	3781	KCNN2	OMIM:619725
HP:0002063	Rigidity	339453	TMEM240	OMIM:607454
HP:0002063	Rigidity	6335	SCN9A	ORPHA:33069
HP:0002063	Rigidity	6326	SCN2A	ORPHA:33069
HP:0002063	Rigidity	2554	GABRA1	ORPHA:33069
HP:0002063	Rigidity	6323	SCN1A	ORPHA:33069
HP:0002063	Rigidity	6324	SCN1B	ORPHA:33069
HP:0002063	Rigidity	57526	PCDH19	ORPHA:33069
HP:0002063	Rigidity	2566	GABRG2	ORPHA:33069
HP:0002063	Rigidity	80704	SLC19A3	OMIM:607483
HP:0002063	Rigidity	1201	CLN3	ORPHA:228346
HP:0002063	Rigidity	10535	RNASEH2A	ORPHA:51
HP:0002063	Rigidity	84153	RNASEH2C	ORPHA:51
HP:0002063	Rigidity	25939	SAMHD1	ORPHA:51
HP:0002063	Rigidity	79621	RNASEH2B	ORPHA:51
HP:0002063	Rigidity	11277	TREX1	ORPHA:51
HP:0002063	Rigidity	100147744	RNU7-1	ORPHA:51
HP:0002063	Rigidity	134353	LSM11	ORPHA:51
HP:0002063	Rigidity	64135	IFIH1	ORPHA:51
HP:0002063	Rigidity	80207	OPA3	ORPHA:67036
HP:0002063	Rigidity	3119	HLA-DQB1	OMIM:123400
HP:0002063	Rigidity	5621	PRNP	OMIM:123400
HP:0002063	Rigidity	10367	MICU1	ORPHA:401768
HP:0002063	Rigidity	6872	TAF1	ORPHA:53351
HP:0002063	Rigidity	410	ARSA	ORPHA:309271
HP:0002063	Rigidity	410	ARSA	ORPHA:309263
HP:0002063	Rigidity	410	ARSA	ORPHA:309256
HP:0002063	Rigidity	2581	GALC	ORPHA:206436
HP:0002063	Rigidity	2581	GALC	OMIM:245200
HP:0002063	Rigidity	443	ASPA	ORPHA:314911
HP:0002063	Rigidity	2720	GLB1	ORPHA:79255
HP:0002064	Spastic gait	51062	ATL1	ORPHA:100984
HP:0002064	Spastic gait	51062	ATL1	OMIM:182600
HP:0002064	Spastic gait	23111	SPART	OMIM:275900
HP:0002064	Spastic gait	23111	SPART	ORPHA:101000
HP:0002064	Spastic gait	3736	KCNA1	OMIM:160120
HP:0002064	Spastic gait	3736	KCNA1	ORPHA:972
HP:0002064	Spastic gait	9897	WASHC5	ORPHA:100989
HP:0002064	Spastic gait	9897	WASHC5	OMIM:603563
HP:0002064	Spastic gait	4099	MAG	OMIM:616680
HP:0002064	Spastic gait	324	APC	ORPHA:261584
HP:0002064	Spastic gait	79876	UBA5	OMIM:617133
HP:0002064	Spastic gait	57679	ALS2	OMIM:606353
HP:0002064	Spastic gait	57679	ALS2	ORPHA:247604
HP:0002064	Spastic gait	57679	ALS2	OMIM:205100
HP:0002064	Spastic gait	11160	ERLIN2	ORPHA:247604
HP:0002064	Spastic gait	6687	SPG7	ORPHA:99013
HP:0002064	Spastic gait	6687	SPG7	OMIM:607259
HP:0002064	Spastic gait	6687	SPG7	ORPHA:35689
HP:0002064	Spastic gait	5354	PLP1	ORPHA:99015
HP:0002064	Spastic gait	5354	PLP1	OMIM:312920
HP:0002064	Spastic gait	123606	NIPA1	OMIM:600363
HP:0002064	Spastic gait	57156	TMEM63C	OMIM:619966
HP:0002064	Spastic gait	547	KIF1A	OMIM:610357
HP:0002064	Spastic gait	547	KIF1A	ORPHA:101010
HP:0002064	Spastic gait	9197	SLC33A1	OMIM:612539
HP:0002064	Spastic gait	9197	SLC33A1	ORPHA:171863
HP:0002064	Spastic gait	10166	SLC25A15	ORPHA:415
HP:0002064	Spastic gait	10166	SLC25A15	OMIM:238970
HP:0002064	Spastic gait	51204	TACO1	OMIM:619052
HP:0002064	Spastic gait	65055	REEP1	ORPHA:101011
HP:0002064	Spastic gait	65055	REEP1	OMIM:610250
HP:0002064	Spastic gait	4204	MECP2	OMIM:300055
HP:0002064	Spastic gait	215	ABCD1	ORPHA:139399
HP:0002064	Spastic gait	118813	ZFYVE27	OMIM:610244
HP:0002064	Spastic gait	5832	ALDH18A1	OMIM:601162
HP:0002064	Spastic gait	5832	ALDH18A1	ORPHA:447757
HP:0002064	Spastic gait	5832	ALDH18A1	ORPHA:447753
HP:0002064	Spastic gait	5832	ALDH18A1	ORPHA:447760
HP:0002064	Spastic gait	25778	DSTYK	ORPHA:101003
HP:0002064	Spastic gait	9420	CYP7B1	OMIM:270800
HP:0002064	Spastic gait	57599	WDR48	ORPHA:401800
HP:0002064	Spastic gait	55703	POLR3B	OMIM:619742
HP:0002064	Spastic gait	80821	DDHD1	ORPHA:101008
HP:0002064	Spastic gait	9907	AP5Z1	OMIM:613647
HP:0002064	Spastic gait	9907	AP5Z1	ORPHA:306511
HP:0002064	Spastic gait	9895	TECPR2	OMIM:615031
HP:0002064	Spastic gait	340075	ARSI	ORPHA:401815
HP:0002064	Spastic gait	57498	KIDINS220	OMIM:617296
HP:0002064	Spastic gait	84879	MFSD2A	OMIM:616486
HP:0002064	Spastic gait	2517	FUCA1	OMIM:230000
HP:0002064	Spastic gait	80232	WDR26	OMIM:617616
HP:0002064	Spastic gait	10613	ERLIN1	ORPHA:401785
HP:0002064	Spastic gait	10613	ERLIN1	OMIM:615681
HP:0002064	Spastic gait	23503	ZFYVE26	OMIM:270700
HP:0002064	Spastic gait	55210	ATAD3A	ORPHA:496790
HP:0002064	Spastic gait	80055	PGAP1	ORPHA:401820
HP:0002064	Spastic gait	22978	NT5C2	ORPHA:320396
HP:0002064	Spastic gait	22978	NT5C2	OMIM:613162
HP:0002064	Spastic gait	6472	SHMT2	OMIM:619121
HP:0002064	Spastic gait	6253	RTN2	OMIM:604805
HP:0002064	Spastic gait	6253	RTN2	ORPHA:100993
HP:0002064	Spastic gait	79971	WLS	OMIM:619648
HP:0002064	Spastic gait	26278	SACS	OMIM:270550
HP:0002064	Spastic gait	80208	SPG11	OMIM:604360
HP:0002064	Spastic gait	9101	USP8	ORPHA:401795
HP:0002064	Spastic gait	8913	CACNA1G	ORPHA:458803
HP:0002064	Spastic gait	8913	CACNA1G	OMIM:616795
HP:0002064	Spastic gait	3739	KCNA4	OMIM:618284
HP:0002064	Spastic gait	3329	HSPD1	OMIM:605280
HP:0002064	Spastic gait	3329	HSPD1	ORPHA:100994
HP:0002064	Spastic gait	383	ARG1	OMIM:207800
HP:0002064	Spastic gait	7415	VCP	ORPHA:329475
HP:0002064	Spastic gait	23259	DDHD2	ORPHA:320380
HP:0002064	Spastic gait	6683	SPAST	OMIM:182601
HP:0002064	Spastic gait	57704	GBA2	OMIM:614409
HP:0002064	Spastic gait	26580	BSCL2	OMIM:270685
HP:0002064	Spastic gait	26580	BSCL2	ORPHA:100998
HP:0002064	Spastic gait	6843	VAMP1	ORPHA:251282
HP:0002064	Spastic gait	84188	FAR1	ORPHA:447753
HP:0002064	Spastic gait	51663	ZFR	ORPHA:401840
HP:0002064	Spastic gait	51271	UBAP1	ORPHA:100993
HP:0002064	Spastic gait	126129	CPT1C	ORPHA:444099
HP:0002064	Spastic gait	3839	KPNA3	ORPHA:171612
HP:0002064	Spastic gait	51308	REEP2	ORPHA:401849
HP:0002064	Spastic gait	51308	REEP2	OMIM:615625
HP:0002064	Spastic gait	113612	CYP2U1	ORPHA:320411
HP:0002064	Spastic gait	22948	CCT5	OMIM:256840
HP:0002064	Spastic gait	2583	B4GALNT1	OMIM:609195
HP:0002064	Spastic gait	57165	GJC2	OMIM:613206
HP:0002064	Spastic gait	4001	LMNB1	ORPHA:99027
HP:0002064	Spastic gait	271	AMPD2	ORPHA:401805
HP:0002064	Spastic gait	271	AMPD2	OMIM:615686
HP:0002064	Spastic gait	10159	ATP6AP2	ORPHA:363654
HP:0002064	Spastic gait	25793	FBXO7	OMIM:260300
HP:0002064	Spastic gait	23516	SLC39A14	OMIM:617013
HP:0002064	Spastic gait	23516	SLC39A14	ORPHA:521406
HP:0002064	Spastic gait	23204	ARL6IP1	OMIM:615685
HP:0002064	Spastic gait	23204	ARL6IP1	ORPHA:401780
HP:0002064	Spastic gait	2074	ERCC6	OMIM:278800
HP:0002064	Spastic gait	10667	FARS2	ORPHA:466722
HP:0002064	Spastic gait	3798	KIF5A	ORPHA:100991
HP:0002066	Gait ataxia	10749	KIF1C	ORPHA:397946
HP:0002066	Gait ataxia	10749	KIF1C	OMIM:611302
HP:0002066	Gait ataxia	5621	PRNP	ORPHA:282166
HP:0002066	Gait ataxia	5621	PRNP	ORPHA:356
HP:0002066	Gait ataxia	5621	PRNP	ORPHA:157941
HP:0002066	Gait ataxia	5621	PRNP	OMIM:123400
HP:0002066	Gait ataxia	5621	PRNP	OMIM:137440
HP:0002066	Gait ataxia	64374	SIL1	OMIM:248800
HP:0002066	Gait ataxia	8450	CUL4B	OMIM:300354
HP:0002066	Gait ataxia	2643	GCH1	OMIM:128230
HP:0002066	Gait ataxia	2643	GCH1	ORPHA:98808
HP:0002066	Gait ataxia	158	ADSL	OMIM:103050
HP:0002066	Gait ataxia	23646	PLD3	OMIM:617770
HP:0002066	Gait ataxia	55703	POLR3B	OMIM:614381
HP:0002066	Gait ataxia	146227	BEAN1	OMIM:117210
HP:0002066	Gait ataxia	146227	BEAN1	ORPHA:217012
HP:0002066	Gait ataxia	2895	GRID2	OMIM:616204
HP:0002066	Gait ataxia	22880	MORC2	OMIM:616688
HP:0002066	Gait ataxia	51126	NAA20	OMIM:619717
HP:0002066	Gait ataxia	9254	CACNA2D2	OMIM:618501
HP:0002066	Gait ataxia	51343	FZR1	OMIM:620145
HP:0002066	Gait ataxia	85300	ATCAY	ORPHA:94122
HP:0002066	Gait ataxia	85300	ATCAY	OMIM:601238
HP:0002066	Gait ataxia	4359	MPZ	OMIM:180800
HP:0002066	Gait ataxia	4359	MPZ	ORPHA:3115
HP:0002066	Gait ataxia	5376	PMP22	OMIM:180800
HP:0002066	Gait ataxia	5376	PMP22	ORPHA:3115
HP:0002066	Gait ataxia	5376	PMP22	ORPHA:98916
HP:0002066	Gait ataxia	4535	MT-ND1	ORPHA:255210
HP:0002066	Gait ataxia	4536	MT-ND2	ORPHA:255210
HP:0002066	Gait ataxia	4537	MT-ND3	ORPHA:255210
HP:0002066	Gait ataxia	4538	MT-ND4	ORPHA:255210
HP:0002066	Gait ataxia	4567	MT-TL1	ORPHA:255210
HP:0002066	Gait ataxia	4578	MT-TW	ORPHA:255210
HP:0002066	Gait ataxia	4577	MT-TV	ORPHA:255210
HP:0002066	Gait ataxia	4540	MT-ND5	ORPHA:255210
HP:0002066	Gait ataxia	4541	MT-ND6	ORPHA:255210
HP:0002066	Gait ataxia	4566	MT-TK	ORPHA:255210
HP:0002066	Gait ataxia	4983	OPHN1	OMIM:300486
HP:0002066	Gait ataxia	80232	WDR26	ORPHA:513456
HP:0002066	Gait ataxia	3074	HEXB	ORPHA:309169
HP:0002066	Gait ataxia	10908	PNPLA6	ORPHA:139480
HP:0002066	Gait ataxia	10908	PNPLA6	OMIM:215470
HP:0002066	Gait ataxia	8722	CTSF	OMIM:615362
HP:0002066	Gait ataxia	10528	NOP56	OMIM:614153
HP:0002066	Gait ataxia	283489	CHAMP1	OMIM:616579
HP:0002066	Gait ataxia	8309	ACOX2	OMIM:617308
HP:0002066	Gait ataxia	5610	EIF2AK2	OMIM:618877
HP:0002066	Gait ataxia	2911	GRM1	OMIM:614831
HP:0002066	Gait ataxia	2911	GRM1	OMIM:617691
HP:0002066	Gait ataxia	2911	GRM1	ORPHA:324262
HP:0002066	Gait ataxia	28960	DCPS	OMIM:616459
HP:0002066	Gait ataxia	55780	ERMARD	ORPHA:75857
HP:0002066	Gait ataxia	7054	TH	OMIM:605407
HP:0002066	Gait ataxia	7054	TH	ORPHA:101150
HP:0002066	Gait ataxia	146057	TTBK2	OMIM:604432
HP:0002066	Gait ataxia	3064	HTT	ORPHA:248111
HP:0002066	Gait ataxia	3064	HTT	OMIM:143100
HP:0002066	Gait ataxia	57492	ARID1B	OMIM:135900
HP:0002066	Gait ataxia	50484	RRM2B	OMIM:613077
HP:0002066	Gait ataxia	50484	RRM2B	ORPHA:254892
HP:0002066	Gait ataxia	50484	RRM2B	OMIM:612075
HP:0002066	Gait ataxia	5119	CHMP1A	OMIM:614961
HP:0002066	Gait ataxia	7436	VLDLR	OMIM:224050
HP:0002066	Gait ataxia	5173	PDYN	OMIM:610245
HP:0002066	Gait ataxia	5173	PDYN	ORPHA:101108
HP:0002066	Gait ataxia	10939	AFG3L2	OMIM:610246
HP:0002066	Gait ataxia	10939	AFG3L2	ORPHA:101109
HP:0002066	Gait ataxia	5190	PEX6	ORPHA:95433
HP:0002066	Gait ataxia	10157	AASS	ORPHA:3124
HP:0002066	Gait ataxia	2332	FMR1	ORPHA:93256
HP:0002066	Gait ataxia	2332	FMR1	OMIM:300623
HP:0002066	Gait ataxia	55187	VPS13D	ORPHA:95434
HP:0002066	Gait ataxia	55187	VPS13D	OMIM:607317
HP:0002066	Gait ataxia	27072	VPS41	ORPHA:95434
HP:0002066	Gait ataxia	823	CAPN1	OMIM:616907
HP:0002066	Gait ataxia	823	CAPN1	ORPHA:488594
HP:0002066	Gait ataxia	10273	STUB1	OMIM:618093
HP:0002066	Gait ataxia	343641	TGM6	ORPHA:276193
HP:0002066	Gait ataxia	857	CAV1	OMIM:606721
HP:0002066	Gait ataxia	6687	SPG7	OMIM:607259
HP:0002066	Gait ataxia	80856	LNPK	OMIM:618090
HP:0002066	Gait ataxia	10935	PRDX3	OMIM:619862
HP:0002066	Gait ataxia	23203	PMPCA	ORPHA:1170
HP:0002066	Gait ataxia	23203	PMPCA	OMIM:213200
HP:0002066	Gait ataxia	5528	PPP2R5D	OMIM:616355
HP:0002066	Gait ataxia	54872	PIGG	ORPHA:488635
HP:0002066	Gait ataxia	54840	APTX	OMIM:208920
HP:0002066	Gait ataxia	2903	GRIN2A	ORPHA:98818
HP:0002066	Gait ataxia	950	SCARB2	OMIM:254900
HP:0002066	Gait ataxia	27235	COQ2	ORPHA:98933
HP:0002066	Gait ataxia	27235	COQ2	ORPHA:227510
HP:0002066	Gait ataxia	4747	NEFL	ORPHA:101085
HP:0002066	Gait ataxia	2395	FXN	ORPHA:95
HP:0002066	Gait ataxia	2395	FXN	OMIM:229300
HP:0002066	Gait ataxia	9711	RUBCN	OMIM:615705
HP:0002066	Gait ataxia	9711	RUBCN	ORPHA:404499
HP:0002066	Gait ataxia	6908	TBP	OMIM:607136
HP:0002066	Gait ataxia	2259	FGF14	OMIM:620174
HP:0002066	Gait ataxia	2259	FGF14	ORPHA:98764
HP:0002066	Gait ataxia	2259	FGF14	OMIM:193003
HP:0002066	Gait ataxia	3475	IFRD1	ORPHA:98771
HP:0002066	Gait ataxia	339453	TMEM240	ORPHA:98773
HP:0002066	Gait ataxia	339453	TMEM240	OMIM:607454
HP:0002066	Gait ataxia	5518	PPP2R1A	OMIM:616362
HP:0002066	Gait ataxia	253738	EBF3	OMIM:617330
HP:0002066	Gait ataxia	9895	TECPR2	OMIM:615031
HP:0002066	Gait ataxia	9895	TECPR2	ORPHA:320385
HP:0002066	Gait ataxia	55280	CWF19L1	OMIM:616127
HP:0002066	Gait ataxia	55280	CWF19L1	ORPHA:453521
HP:0002066	Gait ataxia	54902	TTC19	OMIM:615157
HP:0002066	Gait ataxia	3748	KCNC3	ORPHA:98768
HP:0002066	Gait ataxia	3748	KCNC3	OMIM:605259
HP:0002066	Gait ataxia	60481	ELOVL5	OMIM:615957
HP:0002066	Gait ataxia	60481	ELOVL5	ORPHA:423296
HP:0002066	Gait ataxia	3708	ITPR1	ORPHA:98769
HP:0002066	Gait ataxia	3708	ITPR1	OMIM:117360
HP:0002066	Gait ataxia	3708	ITPR1	ORPHA:208513
HP:0002066	Gait ataxia	3708	ITPR1	OMIM:606658
HP:0002066	Gait ataxia	5582	PRKCG	ORPHA:98763
HP:0002066	Gait ataxia	5582	PRKCG	OMIM:605361
HP:0002066	Gait ataxia	80704	SLC19A3	OMIM:607483
HP:0002066	Gait ataxia	1822	ATN1	ORPHA:101
HP:0002066	Gait ataxia	724066	ATXN8	ORPHA:98760
HP:0002066	Gait ataxia	6315	ATXN8OS	ORPHA:98760
HP:0002066	Gait ataxia	25814	ATXN10	ORPHA:98761
HP:0002066	Gait ataxia	25814	ATXN10	OMIM:603516
HP:0002066	Gait ataxia	4311	MME	ORPHA:497764
HP:0002066	Gait ataxia	4311	MME	OMIM:617018
HP:0002066	Gait ataxia	55210	ATAD3A	ORPHA:496790
HP:0002066	Gait ataxia	8733	GPAA1	ORPHA:529665
HP:0002066	Gait ataxia	8733	GPAA1	OMIM:617810
HP:0002066	Gait ataxia	2232	FDXR	ORPHA:543470
HP:0002066	Gait ataxia	7222	TRPC3	ORPHA:458798
HP:0002066	Gait ataxia	7222	TRPC3	OMIM:616410
HP:0002066	Gait ataxia	59336	PRDM13	OMIM:619761
HP:0002066	Gait ataxia	1356	CP	ORPHA:48818
HP:0002066	Gait ataxia	23261	CAMTA1	OMIM:614756
HP:0002066	Gait ataxia	9409	PEX16	OMIM:614877
HP:0002066	Gait ataxia	6311	ATXN2	ORPHA:98756
HP:0002066	Gait ataxia	84919	PPP1R15B	OMIM:616817
HP:0002066	Gait ataxia	6925	TCF4	OMIM:610954
HP:0002066	Gait ataxia	6925	TCF4	ORPHA:2896
HP:0002066	Gait ataxia	5981	RFC1	ORPHA:504476
HP:0002066	Gait ataxia	5981	RFC1	OMIM:614575
HP:0002066	Gait ataxia	4677	NARS1	OMIM:619092
HP:0002066	Gait ataxia	55739	NAXD	OMIM:618321
HP:0002066	Gait ataxia	51741	WWOX	ORPHA:284282
HP:0002066	Gait ataxia	51741	WWOX	OMIM:614322
HP:0002066	Gait ataxia	9922	IQSEC1	OMIM:618687
HP:0002066	Gait ataxia	23219	FBXO28	OMIM:619777
HP:0002066	Gait ataxia	2055	CLN8	ORPHA:1947
HP:0002066	Gait ataxia	404672	GTF2H5	ORPHA:33364
HP:0002066	Gait ataxia	833	CARS1	ORPHA:33364
HP:0002066	Gait ataxia	2068	ERCC2	ORPHA:33364
HP:0002066	Gait ataxia	7737	RNF113A	ORPHA:33364
HP:0002066	Gait ataxia	7737	RNF113A	OMIM:300953
HP:0002066	Gait ataxia	136647	MPLKIP	ORPHA:33364
HP:0002066	Gait ataxia	6897	TARS1	ORPHA:33364
HP:0002066	Gait ataxia	2071	ERCC3	ORPHA:33364
HP:0002066	Gait ataxia	2961	GTF2E2	ORPHA:33364
HP:0002066	Gait ataxia	3954	LETM1	OMIM:620089
HP:0002066	Gait ataxia	3752	KCND3	OMIM:607346
HP:0002066	Gait ataxia	1487	CTBP1	OMIM:617915
HP:0002066	Gait ataxia	6595	SMARCA2	OMIM:601358
HP:0002066	Gait ataxia	27077	B9D1	OMIM:617120
HP:0002066	Gait ataxia	5111	PCNA	ORPHA:438134
HP:0002066	Gait ataxia	57716	PRX	OMIM:614895
HP:0002066	Gait ataxia	79628	SH3TC2	ORPHA:99949
HP:0002066	Gait ataxia	4204	MECP2	OMIM:312750
HP:0002066	Gait ataxia	4204	MECP2	ORPHA:3095
HP:0002066	Gait ataxia	57410	SCYL1	OMIM:616719
HP:0002066	Gait ataxia	57410	SCYL1	ORPHA:466794
HP:0002066	Gait ataxia	10382	TUBB4A	OMIM:128101
HP:0002066	Gait ataxia	9230	RAB11B	OMIM:617807
HP:0002066	Gait ataxia	8905	AP1S2	OMIM:304340
HP:0002066	Gait ataxia	4001	LMNB1	ORPHA:99027
HP:0002066	Gait ataxia	54704	PDP1	OMIM:608782
HP:0002066	Gait ataxia	291	SLC25A4	ORPHA:254892
HP:0002066	Gait ataxia	11232	POLG2	ORPHA:254892
HP:0002066	Gait ataxia	6134	RPL10	OMIM:300998
HP:0002066	Gait ataxia	8925	HERC1	OMIM:617011
HP:0002066	Gait ataxia	8925	HERC1	ORPHA:457359
HP:0002066	Gait ataxia	92935	MARS2	OMIM:611390
HP:0002066	Gait ataxia	92935	MARS2	ORPHA:314603
HP:0002066	Gait ataxia	1173	AP2M1	OMIM:618587
HP:0002066	Gait ataxia	57102	C12orf4	OMIM:618221
HP:0002066	Gait ataxia	79876	UBA5	OMIM:617133
HP:0002066	Gait ataxia	124997	WDR81	OMIM:610185
HP:0002066	Gait ataxia	10765	KDM5B	OMIM:618109
HP:0002066	Gait ataxia	57704	GBA2	ORPHA:352641
HP:0002066	Gait ataxia	6334	SCN8A	OMIM:614306
HP:0002066	Gait ataxia	4967	OGDH	OMIM:203740
HP:0002066	Gait ataxia	23345	SYNE1	OMIM:610743
HP:0002066	Gait ataxia	9256	TSPOAP1	ORPHA:101150
HP:0002066	Gait ataxia	57465	TBC1D24	OMIM:605021
HP:0002066	Gait ataxia	26580	BSCL2	ORPHA:363400
HP:0002066	Gait ataxia	6792	CDKL5	ORPHA:3095
HP:0002066	Gait ataxia	22854	NTNG1	ORPHA:3095
HP:0002066	Gait ataxia	9568	GABBR2	ORPHA:3095
HP:0002066	Gait ataxia	8243	SMC1A	ORPHA:3095
HP:0002066	Gait ataxia	6548	SLC9A1	OMIM:616291
HP:0002066	Gait ataxia	23102	TBC1D2B	OMIM:619323
HP:0002066	Gait ataxia	440193	CCDC88C	OMIM:616053
HP:0002066	Gait ataxia	440193	CCDC88C	ORPHA:423275
HP:0002066	Gait ataxia	478	ATP1A3	OMIM:601338
HP:0002066	Gait ataxia	478	ATP1A3	ORPHA:71517
HP:0002066	Gait ataxia	8878	SQSTM1	OMIM:617145
HP:0002066	Gait ataxia	4081	MAB21L1	OMIM:618479
HP:0002066	Gait ataxia	2891	GRIA2	OMIM:618917
HP:0002066	Gait ataxia	5994	RFXAP	ORPHA:572
HP:0002066	Gait ataxia	4261	CIITA	ORPHA:572
HP:0002066	Gait ataxia	5993	RFX5	ORPHA:572
HP:0002066	Gait ataxia	8625	RFXANK	ORPHA:572
HP:0002066	Gait ataxia	28982	FLVCR1	ORPHA:88628
HP:0002066	Gait ataxia	1181	CLCN2	OMIM:615651
HP:0002066	Gait ataxia	4125	MAN2B1	OMIM:248500
HP:0002066	Gait ataxia	116150	NUS1	OMIM:617831
HP:0002066	Gait ataxia	267010	RNU12	OMIM:620208
HP:0002066	Gait ataxia	267010	RNU12	ORPHA:512260
HP:0002066	Gait ataxia	54834	GDAP2	OMIM:618369
HP:0002066	Gait ataxia	91137	SLC25A46	OMIM:616505
HP:0002066	Gait ataxia	54974	THG1L	OMIM:618800
HP:0002066	Gait ataxia	4864	NPC1	OMIM:257220
HP:0002066	Gait ataxia	4361	MRE11	OMIM:604391
HP:0002066	Gait ataxia	4361	MRE11	ORPHA:251347
HP:0002066	Gait ataxia	3119	HLA-DQB1	OMIM:123400
HP:0002066	Gait ataxia	20	ABCA2	OMIM:618808
HP:0002066	Gait ataxia	4547	MTTP	ORPHA:14
HP:0002066	Gait ataxia	2898	GRIK2	OMIM:619580
HP:0002066	Gait ataxia	5611	DNAJC3	OMIM:616192
HP:0002066	Gait ataxia	5611	DNAJC3	ORPHA:445062
HP:0002066	Gait ataxia	372	ARCN1	OMIM:617164
HP:0002066	Gait ataxia	54664	TMEM106B	OMIM:617964
HP:0002066	Gait ataxia	23395	LARS2	OMIM:615300
HP:0002066	Gait ataxia	128989	TANGO2	OMIM:616878
HP:0002066	Gait ataxia	2065	ERBB3	OMIM:243180
HP:0002066	Gait ataxia	27010	TPK1	OMIM:614458
HP:0002066	Gait ataxia	87178	PNPT1	ORPHA:101111
HP:0002066	Gait ataxia	65260	COA7	OMIM:618387
HP:0002066	Gait ataxia	4929	NR4A2	ORPHA:98808
HP:0002066	Gait ataxia	3615	IMPDH2	ORPHA:98808
HP:0002066	Gait ataxia	131669	UROC1	OMIM:276880
HP:0002066	Gait ataxia	131669	UROC1	ORPHA:210128
HP:0002066	Gait ataxia	7345	UCHL1	OMIM:620221
HP:0002066	Gait ataxia	7343	UBTF	ORPHA:500180
HP:0002066	Gait ataxia	9829	DNAJC6	ORPHA:391411
HP:0002066	Gait ataxia	5420	PODXL	ORPHA:391411
HP:0002066	Gait ataxia	8867	SYNJ1	ORPHA:391411
HP:0002066	Gait ataxia	5058	PAK1	OMIM:618158
HP:0002066	Gait ataxia	122553	TRAPPC6B	OMIM:617862
HP:0002066	Gait ataxia	7204	TRIO	ORPHA:476126
HP:0002066	Gait ataxia	3295	HSD17B4	OMIM:233400
HP:0002066	Gait ataxia	54676	GTPBP2	OMIM:617988
HP:0002066	Gait ataxia	6785	ELOVL4	OMIM:133190
HP:0002066	Gait ataxia	10522	DEAF1	ORPHA:468620
HP:0002066	Gait ataxia	9516	LITAF	OMIM:601098
HP:0002066	Gait ataxia	5456	POU3F4	ORPHA:1435
HP:0002066	Gait ataxia	23636	NUP62	ORPHA:225154
HP:0002066	Gait ataxia	103	ADAR	ORPHA:225154
HP:0002066	Gait ataxia	8913	CACNA1G	ORPHA:458803
HP:0002066	Gait ataxia	6389	SDHA	OMIM:619259
HP:0002066	Gait ataxia	10479	SLC9A6	ORPHA:85278
HP:0002066	Gait ataxia	84823	LMNB2	OMIM:616540
HP:0002066	Gait ataxia	22943	DKK1	ORPHA:268882
HP:0002066	Gait ataxia	9487	PIGL	OMIM:280000
HP:0002066	Gait ataxia	7515	XRCC1	OMIM:617633
HP:0002066	Gait ataxia	738	VPS51	OMIM:618606
HP:0002066	Gait ataxia	81615	TMEM163	OMIM:620243
HP:0002066	Gait ataxia	1795	DOCK3	OMIM:618292
HP:0002066	Gait ataxia	129285	PPP1R21	OMIM:619383
HP:0002066	Gait ataxia	1968	EIF2S3	OMIM:300148
HP:0002066	Gait ataxia	84842	HPDL	OMIM:619027
HP:0002066	Gait ataxia	221927	BRAT1	OMIM:618056
HP:0002066	Gait ataxia	2196	FAT2	OMIM:617769
HP:0002066	Gait ataxia	8398	PLA2G6	OMIM:610217
HP:0002066	Gait ataxia	1200	TPP1	ORPHA:284324
HP:0002066	Gait ataxia	410	ARSA	ORPHA:309271
HP:0002066	Gait ataxia	410	ARSA	ORPHA:309256
HP:0002066	Gait ataxia	410	ARSA	ORPHA:309263
HP:0002066	Gait ataxia	5660	PSAP	ORPHA:309271
HP:0002066	Gait ataxia	5660	PSAP	ORPHA:309256
HP:0002066	Gait ataxia	5660	PSAP	ORPHA:309263
HP:0002066	Gait ataxia	55129	ANO10	ORPHA:284289
HP:0002066	Gait ataxia	1938	EEF2	ORPHA:101112
HP:0002066	Gait ataxia	4287	ATXN3	ORPHA:276244
HP:0002066	Gait ataxia	4287	ATXN3	ORPHA:276241
HP:0002066	Gait ataxia	4287	ATXN3	ORPHA:276238
HP:0002066	Gait ataxia	6638	SNRPN	OMIM:105830
HP:0002066	Gait ataxia	7337	UBE3A	OMIM:105830
HP:0002066	Gait ataxia	5832	ALDH18A1	ORPHA:447757
HP:0002066	Gait ataxia	6335	SCN9A	ORPHA:33069
HP:0002066	Gait ataxia	6326	SCN2A	ORPHA:33069
HP:0002066	Gait ataxia	2554	GABRA1	ORPHA:33069
HP:0002066	Gait ataxia	6323	SCN1A	ORPHA:33069
HP:0002066	Gait ataxia	6323	SCN1A	ORPHA:569
HP:0002066	Gait ataxia	6324	SCN1B	ORPHA:33069
HP:0002066	Gait ataxia	57526	PCDH19	ORPHA:33069
HP:0002066	Gait ataxia	2566	GABRG2	ORPHA:33069
HP:0002066	Gait ataxia	4508	MT-ATP6	ORPHA:644
HP:0002066	Gait ataxia	773	CACNA1A	ORPHA:569
HP:0002066	Gait ataxia	112476	PRRT2	ORPHA:569
HP:0002066	Gait ataxia	477	ATP1A2	ORPHA:569
HP:0002066	Gait ataxia	6712	SPTBN2	ORPHA:352403
HP:0002066	Gait ataxia	55149	MTPAP	ORPHA:254343
HP:0002066	Gait ataxia	23400	ATP13A2	ORPHA:513436
HP:0002066	Gait ataxia	5428	POLG	OMIM:607459
HP:0002066	Gait ataxia	56652	TWNK	OMIM:607459
HP:0002066	Gait ataxia	79152	FA2H	ORPHA:329308
HP:0002066	Gait ataxia	2705	GJB1	ORPHA:1175
HP:0002066	Gait ataxia	23064	SETX	OMIM:606002
HP:0002066	Gait ataxia	26278	SACS	OMIM:270550
HP:0002066	Gait ataxia	5192	PEX10	ORPHA:247815
HP:0002067	Bradykinesia	291	SLC25A4	ORPHA:254892
HP:0002067	Bradykinesia	5428	POLG	ORPHA:254892
HP:0002067	Bradykinesia	5428	POLG	OMIM:258450
HP:0002067	Bradykinesia	5428	POLG	ORPHA:254886
HP:0002067	Bradykinesia	5428	POLG	OMIM:157640
HP:0002067	Bradykinesia	56652	TWNK	ORPHA:254892
HP:0002067	Bradykinesia	11232	POLG2	ORPHA:254892
HP:0002067	Bradykinesia	50484	RRM2B	ORPHA:254892
HP:0002067	Bradykinesia	5621	PRNP	ORPHA:282166
HP:0002067	Bradykinesia	5621	PRNP	ORPHA:157941
HP:0002067	Bradykinesia	5621	PRNP	OMIM:137440
HP:0002067	Bradykinesia	3064	HTT	ORPHA:399
HP:0002067	Bradykinesia	3064	HTT	OMIM:143100
HP:0002067	Bradykinesia	3064	HTT	ORPHA:248111
HP:0002067	Bradykinesia	3064	HTT	OMIM:617435
HP:0002067	Bradykinesia	6515	SLC2A3	ORPHA:399
HP:0002067	Bradykinesia	51062	ATL1	ORPHA:100984
HP:0002067	Bradykinesia	2643	GCH1	OMIM:128230
HP:0002067	Bradykinesia	2643	GCH1	ORPHA:98808
HP:0002067	Bradykinesia	26058	GIGYF2	OMIM:607688
HP:0002067	Bradykinesia	26058	GIGYF2	ORPHA:411602
HP:0002067	Bradykinesia	4287	ATXN3	OMIM:109150
HP:0002067	Bradykinesia	4137	MAPT	OMIM:601104
HP:0002067	Bradykinesia	4137	MAPT	ORPHA:240094
HP:0002067	Bradykinesia	4137	MAPT	ORPHA:240085
HP:0002067	Bradykinesia	4137	MAPT	ORPHA:240071
HP:0002067	Bradykinesia	4137	MAPT	ORPHA:240103
HP:0002067	Bradykinesia	4137	MAPT	OMIM:168600
HP:0002067	Bradykinesia	10159	ATP6AP2	OMIM:300911
HP:0002067	Bradykinesia	10159	ATP6AP2	ORPHA:363654
HP:0002067	Bradykinesia	10159	ATP6AP2	OMIM:300423
HP:0002067	Bradykinesia	7384	UQCRC1	OMIM:619279
HP:0002067	Bradykinesia	23516	SLC39A14	OMIM:617013
HP:0002067	Bradykinesia	23516	SLC39A14	ORPHA:521406
HP:0002067	Bradykinesia	55532	SLC30A10	ORPHA:309854
HP:0002067	Bradykinesia	55532	SLC30A10	OMIM:613280
HP:0002067	Bradykinesia	9256	TSPOAP1	ORPHA:101150
HP:0002067	Bradykinesia	7054	TH	ORPHA:101150
HP:0002067	Bradykinesia	27235	COQ2	OMIM:146500
HP:0002067	Bradykinesia	27235	COQ2	ORPHA:98933
HP:0002067	Bradykinesia	27235	COQ2	ORPHA:227510
HP:0002067	Bradykinesia	478	ATP1A3	OMIM:128235
HP:0002067	Bradykinesia	478	ATP1A3	OMIM:601338
HP:0002067	Bradykinesia	478	ATP1A3	ORPHA:71517
HP:0002067	Bradykinesia	6531	SLC6A3	ORPHA:238455
HP:0002067	Bradykinesia	6531	SLC6A3	OMIM:613135
HP:0002067	Bradykinesia	7084	TK2	ORPHA:254886
HP:0002067	Bradykinesia	56521	DNAJC12	OMIM:617384
HP:0002067	Bradykinesia	25814	ATXN10	OMIM:603516
HP:0002067	Bradykinesia	6311	ATXN2	OMIM:183090
HP:0002067	Bradykinesia	6311	ATXN2	OMIM:168600
HP:0002067	Bradykinesia	5575	PRKAR1B	ORPHA:412066
HP:0002067	Bradykinesia	80347	COASY	OMIM:615643
HP:0002067	Bradykinesia	26011	TENM4	OMIM:616736
HP:0002067	Bradykinesia	5610	EIF2AK2	OMIM:618877
HP:0002067	Bradykinesia	27102	EIF2AK1	OMIM:618878
HP:0002067	Bradykinesia	3781	KCNN2	OMIM:619725
HP:0002067	Bradykinesia	11152	WDR45	ORPHA:329284
HP:0002067	Bradykinesia	11152	WDR45	OMIM:300894
HP:0002067	Bradykinesia	9829	DNAJC6	OMIM:615528
HP:0002067	Bradykinesia	9829	DNAJC6	ORPHA:2828
HP:0002067	Bradykinesia	9829	DNAJC6	ORPHA:391411
HP:0002067	Bradykinesia	4204	MECP2	ORPHA:778
HP:0002067	Bradykinesia	4204	MECP2	OMIM:300055
HP:0002067	Bradykinesia	23400	ATP13A2	ORPHA:314632
HP:0002067	Bradykinesia	23400	ATP13A2	OMIM:606693
HP:0002067	Bradykinesia	23400	ATP13A2	ORPHA:306674
HP:0002067	Bradykinesia	23400	ATP13A2	OMIM:617225
HP:0002067	Bradykinesia	51204	TACO1	OMIM:619052
HP:0002067	Bradykinesia	5071	PRKN	OMIM:600116
HP:0002067	Bradykinesia	5071	PRKN	ORPHA:2828
HP:0002067	Bradykinesia	8575	PRKRA	ORPHA:210571
HP:0002067	Bradykinesia	8575	PRKRA	OMIM:612067
HP:0002067	Bradykinesia	8867	SYNJ1	OMIM:615530
HP:0002067	Bradykinesia	8867	SYNJ1	ORPHA:2828
HP:0002067	Bradykinesia	8867	SYNJ1	ORPHA:391411
HP:0002067	Bradykinesia	55737	VPS35	OMIM:614203
HP:0002067	Bradykinesia	55737	VPS35	ORPHA:411602
HP:0002067	Bradykinesia	8622	PDE8B	OMIM:609161
HP:0002067	Bradykinesia	8622	PDE8B	ORPHA:228169
HP:0002067	Bradykinesia	79947	DHDDS	OMIM:617836
HP:0002067	Bradykinesia	2629	GBA1	ORPHA:411602
HP:0002067	Bradykinesia	2629	GBA1	OMIM:168600
HP:0002067	Bradykinesia	23317	DNAJC13	ORPHA:411602
HP:0002067	Bradykinesia	1981	EIF4G1	ORPHA:411602
HP:0002067	Bradykinesia	1981	EIF4G1	OMIM:614251
HP:0002067	Bradykinesia	120892	LRRK2	ORPHA:411602
HP:0002067	Bradykinesia	120892	LRRK2	ORPHA:2828
HP:0002067	Bradykinesia	120892	LRRK2	OMIM:607060
HP:0002067	Bradykinesia	6622	SNCA	ORPHA:411602
HP:0002067	Bradykinesia	6622	SNCA	ORPHA:2828
HP:0002067	Bradykinesia	6622	SNCA	ORPHA:171695
HP:0002067	Bradykinesia	6622	SNCA	OMIM:168601
HP:0002067	Bradykinesia	6575	SLC20A2	OMIM:213600
HP:0002067	Bradykinesia	5155	PDGFB	OMIM:213600
HP:0002067	Bradykinesia	5159	PDGFRB	OMIM:213600
HP:0002067	Bradykinesia	1201	CLN3	ORPHA:228346
HP:0002067	Bradykinesia	116442	RAB39B	OMIM:311510
HP:0002067	Bradykinesia	2332	FMR1	ORPHA:93256
HP:0002067	Bradykinesia	2332	FMR1	OMIM:300623
HP:0002067	Bradykinesia	5805	PTS	ORPHA:13
HP:0002067	Bradykinesia	5805	PTS	OMIM:261640
HP:0002067	Bradykinesia	100303755	PET117	OMIM:619063
HP:0002067	Bradykinesia	11315	PARK7	OMIM:606324
HP:0002067	Bradykinesia	11315	PARK7	ORPHA:2828
HP:0002067	Bradykinesia	10935	PRDX3	OMIM:619862
HP:0002067	Bradykinesia	51271	UBAP1	OMIM:618418
HP:0002067	Bradykinesia	23230	VPS13A	ORPHA:2388
HP:0002067	Bradykinesia	7345	UCHL1	OMIM:613643
HP:0002067	Bradykinesia	7345	UCHL1	ORPHA:2828
HP:0002067	Bradykinesia	8398	PLA2G6	OMIM:612953
HP:0002067	Bradykinesia	8398	PLA2G6	ORPHA:199351
HP:0002067	Bradykinesia	8398	PLA2G6	OMIM:610217
HP:0002067	Bradykinesia	54832	VPS13C	ORPHA:2828
HP:0002067	Bradykinesia	27429	HTRA2	ORPHA:2828
HP:0002067	Bradykinesia	27429	HTRA2	OMIM:610297
HP:0002067	Bradykinesia	5420	PODXL	ORPHA:2828
HP:0002067	Bradykinesia	5420	PODXL	ORPHA:391411
HP:0002067	Bradykinesia	65018	PINK1	ORPHA:2828
HP:0002067	Bradykinesia	65018	PINK1	OMIM:605909
HP:0002067	Bradykinesia	6908	TBP	OMIM:607136
HP:0002067	Bradykinesia	6908	TBP	OMIM:168600
HP:0002067	Bradykinesia	6335	SCN9A	ORPHA:36387
HP:0002067	Bradykinesia	6335	SCN9A	ORPHA:33069
HP:0002067	Bradykinesia	112755	STX1B	ORPHA:36387
HP:0002067	Bradykinesia	2563	GABRD	ORPHA:36387
HP:0002067	Bradykinesia	6326	SCN2A	ORPHA:36387
HP:0002067	Bradykinesia	6326	SCN2A	ORPHA:33069
HP:0002067	Bradykinesia	6323	SCN1A	ORPHA:36387
HP:0002067	Bradykinesia	6323	SCN1A	ORPHA:33069
HP:0002067	Bradykinesia	6324	SCN1B	ORPHA:36387
HP:0002067	Bradykinesia	6324	SCN1B	ORPHA:33069
HP:0002067	Bradykinesia	348980	HCN1	ORPHA:36387
HP:0002067	Bradykinesia	84059	ADGRV1	ORPHA:36387
HP:0002067	Bradykinesia	2566	GABRG2	ORPHA:36387
HP:0002067	Bradykinesia	2566	GABRG2	ORPHA:33069
HP:0002067	Bradykinesia	57338	JPH3	OMIM:606438
HP:0002067	Bradykinesia	2512	FTL	OMIM:606159
HP:0002067	Bradykinesia	2512	FTL	ORPHA:157846
HP:0002067	Bradykinesia	58494	JAM2	OMIM:618824
HP:0002067	Bradykinesia	4929	NR4A2	ORPHA:98808
HP:0002067	Bradykinesia	4929	NR4A2	OMIM:619911
HP:0002067	Bradykinesia	4929	NR4A2	OMIM:168600
HP:0002067	Bradykinesia	3615	IMPDH2	ORPHA:98808
HP:0002067	Bradykinesia	1213	CLTC	OMIM:617854
HP:0002067	Bradykinesia	54902	TTC19	OMIM:615157
HP:0002067	Bradykinesia	3748	KCNC3	ORPHA:98768
HP:0002067	Bradykinesia	2554	GABRA1	ORPHA:33069
HP:0002067	Bradykinesia	57526	PCDH19	ORPHA:33069
HP:0002067	Bradykinesia	6872	TAF1	ORPHA:53351
HP:0002067	Bradykinesia	80025	PANK2	OMIM:234200
HP:0002067	Bradykinesia	6697	SPR	ORPHA:70594
HP:0002067	Bradykinesia	724066	ATXN8	ORPHA:98760
HP:0002067	Bradykinesia	6315	ATXN8OS	ORPHA:98760
HP:0002067	Bradykinesia	6315	ATXN8OS	OMIM:168600
HP:0002067	Bradykinesia	5521	PPP2R2B	ORPHA:98762
HP:0002067	Bradykinesia	57462	MYORG	OMIM:618317
HP:0002067	Bradykinesia	2258	FGF13	OMIM:301095
HP:0002067	Bradykinesia	10667	FARS2	ORPHA:466722
HP:0002067	Bradykinesia	6310	ATXN1	ORPHA:98755
HP:0002067	Bradykinesia	1436	CSF1R	OMIM:221820
HP:0002067	Bradykinesia	84833	ATP5MK	OMIM:618683
HP:0002067	Bradykinesia	84665	MYPN	ORPHA:171439
HP:0002067	Bradykinesia	58	ACTA1	ORPHA:171439
HP:0002067	Bradykinesia	7169	TPM2	ORPHA:171439
HP:0002067	Bradykinesia	390594	KBTBD13	ORPHA:171439
HP:0002067	Bradykinesia	4703	NEB	ORPHA:171439
HP:0002067	Bradykinesia	10324	KLHL41	ORPHA:171439
HP:0002067	Bradykinesia	7170	TPM3	ORPHA:171439
HP:0002067	Bradykinesia	124454	EARS2	OMIM:614924
HP:0002067	Bradykinesia	25793	FBXO7	ORPHA:171695
HP:0002067	Bradykinesia	25793	FBXO7	OMIM:260300
HP:0002067	Bradykinesia	51142	CHCHD2	OMIM:616710
HP:0002067	Bradykinesia	55367	PIDD1	OMIM:619827
HP:0002067	Bradykinesia	2747	GLUD2	OMIM:168600
HP:0002067	Bradykinesia	126	ADH1C	OMIM:168600
HP:0002067	Bradykinesia	4576	MT-TT	OMIM:168600
HP:0002067	Bradykinesia	9627	SNCAIP	OMIM:168600
HP:0002067	Bradykinesia	1639	DCTN1	OMIM:168605
HP:0002068	Neuromuscular dysphagia	4137	MAPT	ORPHA:240094
HP:0002068	Neuromuscular dysphagia	4137	MAPT	ORPHA:240085
HP:0002068	Neuromuscular dysphagia	4137	MAPT	ORPHA:240071
HP:0002068	Neuromuscular dysphagia	84665	MYPN	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	58	ACTA1	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	7169	TPM2	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	390594	KBTBD13	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	4703	NEB	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	10324	KLHL41	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	7170	TPM3	ORPHA:171439
HP:0002068	Neuromuscular dysphagia	2581	GALC	ORPHA:206443
HP:0002068	Neuromuscular dysphagia	27235	COQ2	ORPHA:227510
HP:0002068	Neuromuscular dysphagia	10667	FARS2	ORPHA:466722
HP:0002069	Bilateral tonic-clonic seizure	401474	SAMD12	OMIM:601068
HP:0002069	Bilateral tonic-clonic seizure	4524	MTHFR	ORPHA:395
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	OMIM:614847
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	ORPHA:53583
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	OMIM:617113
HP:0002069	Bilateral tonic-clonic seizure	2554	GABRA1	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	8912	CACNA1H	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	8629	JRK	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	OMIM:607681
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	OMIM:618396
HP:0002069	Bilateral tonic-clonic seizure	26960	NBEA	OMIM:619157
HP:0002069	Bilateral tonic-clonic seizure	81555	YIPF5	OMIM:619278
HP:0002069	Bilateral tonic-clonic seizure	340533	NEXMIF	OMIM:300912
HP:0002069	Bilateral tonic-clonic seizure	776	CACNA1D	OMIM:615474
HP:0002069	Bilateral tonic-clonic seizure	776	CACNA1D	ORPHA:369929
HP:0002069	Bilateral tonic-clonic seizure	57468	SLC12A5	OMIM:616685
HP:0002069	Bilateral tonic-clonic seizure	23241	PACS2	OMIM:618067
HP:0002069	Bilateral tonic-clonic seizure	2904	GRIN2B	OMIM:613970
HP:0002069	Bilateral tonic-clonic seizure	2904	GRIN2B	OMIM:616139
HP:0002069	Bilateral tonic-clonic seizure	785	CACNB4	OMIM:613855
HP:0002069	Bilateral tonic-clonic seizure	785	CACNB4	OMIM:607682
HP:0002069	Bilateral tonic-clonic seizure	2997	GYS1	OMIM:611556
HP:0002069	Bilateral tonic-clonic seizure	55325	UFSP2	OMIM:620028
HP:0002069	Bilateral tonic-clonic seizure	81570	CLPB	OMIM:619835
HP:0002069	Bilateral tonic-clonic seizure	55733	HHAT	OMIM:600092
HP:0002069	Bilateral tonic-clonic seizure	51343	FZR1	OMIM:620145
HP:0002069	Bilateral tonic-clonic seizure	10159	ATP6AP2	ORPHA:93952
HP:0002069	Bilateral tonic-clonic seizure	10159	ATP6AP2	OMIM:300423
HP:0002069	Bilateral tonic-clonic seizure	64324	NSD1	ORPHA:821
HP:0002069	Bilateral tonic-clonic seizure	29072	SETD2	ORPHA:821
HP:0002069	Bilateral tonic-clonic seizure	10297	APC2	ORPHA:821
HP:0002069	Bilateral tonic-clonic seizure	501	ALDH7A1	OMIM:266100
HP:0002069	Bilateral tonic-clonic seizure	154881	KCTD7	ORPHA:263516
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4536	MT-ND2	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4537	MT-ND3	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4538	MT-ND4	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4538	MT-ND4	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4577	MT-TV	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4577	MT-TV	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4508	MT-ATP6	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4566	MT-TK	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4566	MT-TK	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	2593	GAMT	ORPHA:382
HP:0002069	Bilateral tonic-clonic seizure	2593	GAMT	OMIM:612736
HP:0002069	Bilateral tonic-clonic seizure	80232	WDR26	ORPHA:513456
HP:0002069	Bilateral tonic-clonic seizure	2563	GABRD	OMIM:613060
HP:0002069	Bilateral tonic-clonic seizure	2563	GABRD	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	387119	CEP85L	OMIM:618873
HP:0002069	Bilateral tonic-clonic seizure	24137	KIF4A	OMIM:300923
HP:0002069	Bilateral tonic-clonic seizure	8722	CTSF	OMIM:615362
HP:0002069	Bilateral tonic-clonic seizure	2782	GNB1	ORPHA:488613
HP:0002069	Bilateral tonic-clonic seizure	2782	GNB1	OMIM:616973
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:619605
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:602481
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:104290
HP:0002069	Bilateral tonic-clonic seizure	55689	YEATS2	OMIM:615127
HP:0002069	Bilateral tonic-clonic seizure	6487	ST3GAL3	OMIM:615006
HP:0002069	Bilateral tonic-clonic seizure	1106	CHD2	OMIM:615369
HP:0002069	Bilateral tonic-clonic seizure	1106	CHD2	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	478	ATP1A3	OMIM:619606
HP:0002069	Bilateral tonic-clonic seizure	478	ATP1A3	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	54982	CLN6	OMIM:204300
HP:0002069	Bilateral tonic-clonic seizure	10565	ARFGEF1	OMIM:619964
HP:0002069	Bilateral tonic-clonic seizure	80055	PGAP1	OMIM:615802
HP:0002069	Bilateral tonic-clonic seizure	3781	KCNN2	OMIM:619725
HP:0002069	Bilateral tonic-clonic seizure	9915	ARNT2	OMIM:615926
HP:0002069	Bilateral tonic-clonic seizure	1476	CSTB	OMIM:254800
HP:0002069	Bilateral tonic-clonic seizure	284403	WDR62	OMIM:604317
HP:0002069	Bilateral tonic-clonic seizure	4512	MT-CO1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4512	MT-CO1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4513	MT-CO2	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4513	MT-CO2	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4514	MT-CO3	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4514	MT-CO3	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4519	MT-CYB	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4511	MT-TC	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4574	MT-TS1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4574	MT-TS1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4575	MT-TS2	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4575	MT-TS2	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4558	MT-TF	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4558	MT-TF	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4572	MT-TQ	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4572	MT-TQ	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	5649	RELN	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	5649	RELN	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	64780	MICAL1	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	9211	LGI1	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	9211	LGI1	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	84992	PIGY	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	84720	PIGO	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	93210	PGAP3	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	93210	PGAP3	OMIM:615716
HP:0002069	Bilateral tonic-clonic seizure	284098	PIGW	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	27315	PGAP2	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	27315	PGAP2	OMIM:614207
HP:0002069	Bilateral tonic-clonic seizure	55650	PIGV	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	9487	PIGL	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	9487	PIGL	OMIM:280000
HP:0002069	Bilateral tonic-clonic seizure	3074	HEXB	ORPHA:309155
HP:0002069	Bilateral tonic-clonic seizure	3074	HEXB	OMIM:268800
HP:0002069	Bilateral tonic-clonic seizure	3899	AFF3	OMIM:619297
HP:0002069	Bilateral tonic-clonic seizure	150094	SIK1	OMIM:616341
HP:0002069	Bilateral tonic-clonic seizure	150094	SIK1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	535	ATP6V0A1	OMIM:619970
HP:0002069	Bilateral tonic-clonic seizure	1757	SARDH	ORPHA:3129
HP:0002069	Bilateral tonic-clonic seizure	79029	AFG2B	OMIM:619616
HP:0002069	Bilateral tonic-clonic seizure	816	CAMK2B	OMIM:617799
HP:0002069	Bilateral tonic-clonic seizure	815	CAMK2A	OMIM:617798
HP:0002069	Bilateral tonic-clonic seizure	1759	DNM1	OMIM:616346
HP:0002069	Bilateral tonic-clonic seizure	1759	DNM1	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	2770	GNAI1	OMIM:619854
HP:0002069	Bilateral tonic-clonic seizure	2055	CLN8	OMIM:610003
HP:0002069	Bilateral tonic-clonic seizure	1183	CLCN4	ORPHA:485350
HP:0002069	Bilateral tonic-clonic seizure	23732	FRRS1L	ORPHA:725
HP:0002069	Bilateral tonic-clonic seizure	23732	FRRS1L	OMIM:616981
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:725
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:289266
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:98818
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	OMIM:245570
HP:0002069	Bilateral tonic-clonic seizure	2074	ERCC6	OMIM:278800
HP:0002069	Bilateral tonic-clonic seizure	5428	POLG	ORPHA:726
HP:0002069	Bilateral tonic-clonic seizure	10939	AFG3L2	ORPHA:313772
HP:0002069	Bilateral tonic-clonic seizure	10939	AFG3L2	OMIM:614487
HP:0002069	Bilateral tonic-clonic seizure	8131	NPRL3	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	10641	NPRL2	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	10273	STUB1	OMIM:618093
HP:0002069	Bilateral tonic-clonic seizure	57531	HACE1	ORPHA:464282
HP:0002069	Bilateral tonic-clonic seizure	80856	LNPK	OMIM:618090
HP:0002069	Bilateral tonic-clonic seizure	10087	CERT1	OMIM:616351
HP:0002069	Bilateral tonic-clonic seizure	10715	CERS1	OMIM:616230
HP:0002069	Bilateral tonic-clonic seizure	5602	MAPK10	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	OMIM:617106
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:604403
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:607208
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:619317
HP:0002069	Bilateral tonic-clonic seizure	23316	CUX2	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	23316	CUX2	OMIM:618141
HP:0002069	Bilateral tonic-clonic seizure	283987	HID1	OMIM:619983
HP:0002069	Bilateral tonic-clonic seizure	79152	FA2H	ORPHA:329308
HP:0002069	Bilateral tonic-clonic seizure	4697	NDUFA4	OMIM:619065
HP:0002069	Bilateral tonic-clonic seizure	132158	GLYCTK	OMIM:220120
HP:0002069	Bilateral tonic-clonic seizure	54872	PIGG	ORPHA:488635
HP:0002069	Bilateral tonic-clonic seizure	1201	CLN3	OMIM:204200
HP:0002069	Bilateral tonic-clonic seizure	1201	CLN3	ORPHA:228346
HP:0002069	Bilateral tonic-clonic seizure	23230	VPS13A	ORPHA:2388
HP:0002069	Bilateral tonic-clonic seizure	23314	SATB2	OMIM:612313
HP:0002069	Bilateral tonic-clonic seizure	4338	MOCS2	OMIM:252160
HP:0002069	Bilateral tonic-clonic seizure	124512	METTL23	OMIM:615942
HP:0002069	Bilateral tonic-clonic seizure	9152	SLC6A5	OMIM:614618
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	OMIM:608105
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	ORPHA:352582
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	OMIM:605021
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	ORPHA:79500
HP:0002069	Bilateral tonic-clonic seizure	112476	PRRT2	OMIM:605751
HP:0002069	Bilateral tonic-clonic seizure	112476	PRRT2	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6335	SCN9A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	112755	STX1B	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	112755	STX1B	OMIM:616172
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:618924
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:607745
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:613721
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	OMIM:617350
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	OMIM:604233
HP:0002069	Bilateral tonic-clonic seizure	348980	HCN1	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	348980	HCN1	OMIM:615871
HP:0002069	Bilateral tonic-clonic seizure	84059	ADGRV1	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	84059	ADGRV1	OMIM:604352
HP:0002069	Bilateral tonic-clonic seizure	7915	ALDH5A1	OMIM:271980
HP:0002069	Bilateral tonic-clonic seizure	7915	ALDH5A1	ORPHA:22
HP:0002069	Bilateral tonic-clonic seizure	610	HCN2	OMIM:602477
HP:0002069	Bilateral tonic-clonic seizure	3192	HNRNPU	ORPHA:238769
HP:0002069	Bilateral tonic-clonic seizure	3192	HNRNPU	OMIM:617391
HP:0002069	Bilateral tonic-clonic seizure	5654	HTRA1	ORPHA:199354
HP:0002069	Bilateral tonic-clonic seizure	443	ASPA	OMIM:271900
HP:0002069	Bilateral tonic-clonic seizure	443	ASPA	ORPHA:314911
HP:0002069	Bilateral tonic-clonic seizure	84138	SLC7A6OS	OMIM:619191
HP:0002069	Bilateral tonic-clonic seizure	9895	TECPR2	OMIM:615031
HP:0002069	Bilateral tonic-clonic seizure	1182	CLCN3	OMIM:619512
HP:0002069	Bilateral tonic-clonic seizure	51604	PIGT	OMIM:615398
HP:0002069	Bilateral tonic-clonic seizure	51604	PIGT	ORPHA:369837
HP:0002069	Bilateral tonic-clonic seizure	5063	PAK3	OMIM:300558
HP:0002069	Bilateral tonic-clonic seizure	9354	UBE4A	OMIM:619639
HP:0002069	Bilateral tonic-clonic seizure	116115	ZNF526	OMIM:619877
HP:0002069	Bilateral tonic-clonic seizure	7701	ZNF142	OMIM:618425
HP:0002069	Bilateral tonic-clonic seizure	8021	NUP214	OMIM:618426
HP:0002069	Bilateral tonic-clonic seizure	6507	SLC1A3	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	6134	RPL10	ORPHA:459070
HP:0002069	Bilateral tonic-clonic seizure	83475	DOHH	OMIM:620066
HP:0002069	Bilateral tonic-clonic seizure	51611	DPH5	OMIM:620070
HP:0002069	Bilateral tonic-clonic seizure	728294	D2HGDH	OMIM:600721
HP:0002069	Bilateral tonic-clonic seizure	8733	GPAA1	ORPHA:529665
HP:0002069	Bilateral tonic-clonic seizure	8733	GPAA1	OMIM:617810
HP:0002069	Bilateral tonic-clonic seizure	25828	TXN2	ORPHA:478029
HP:0002069	Bilateral tonic-clonic seizure	10991	SLC38A3	OMIM:619881
HP:0002069	Bilateral tonic-clonic seizure	163175	LGI4	OMIM:617468
HP:0002069	Bilateral tonic-clonic seizure	6506	SLC1A2	OMIM:617105
HP:0002069	Bilateral tonic-clonic seizure	23261	CAMTA1	OMIM:614756
HP:0002069	Bilateral tonic-clonic seizure	9772	TMEM94	OMIM:618316
HP:0002069	Bilateral tonic-clonic seizure	9568	GABBR2	OMIM:617904
HP:0002069	Bilateral tonic-clonic seizure	2556	GABRA3	OMIM:301091
HP:0002069	Bilateral tonic-clonic seizure	7846	TUBA1A	ORPHA:171680
HP:0002069	Bilateral tonic-clonic seizure	7846	TUBA1A	OMIM:611603
HP:0002069	Bilateral tonic-clonic seizure	34	ACADM	ORPHA:42
HP:0002069	Bilateral tonic-clonic seizure	23007	PLCH1	OMIM:619895
HP:0002069	Bilateral tonic-clonic seizure	8218	CLTCL1	ORPHA:453510
HP:0002069	Bilateral tonic-clonic seizure	23499	MACF1	OMIM:618325
HP:0002069	Bilateral tonic-clonic seizure	23219	FBXO28	OMIM:619777
HP:0002069	Bilateral tonic-clonic seizure	3930	LBR	OMIM:169400
HP:0002069	Bilateral tonic-clonic seizure	2146	EZH2	OMIM:277590
HP:0002069	Bilateral tonic-clonic seizure	10815	CPLX1	ORPHA:352582
HP:0002069	Bilateral tonic-clonic seizure	10815	CPLX1	OMIM:617976
HP:0002069	Bilateral tonic-clonic seizure	51322	WAC	ORPHA:466950
HP:0002069	Bilateral tonic-clonic seizure	85440	DOCK7	OMIM:615859
HP:0002069	Bilateral tonic-clonic seizure	6509	SLC1A4	ORPHA:447997
HP:0002069	Bilateral tonic-clonic seizure	701	BUB1B	OMIM:257300
HP:0002069	Bilateral tonic-clonic seizure	114327	EFHC1	ORPHA:1941
HP:0002069	Bilateral tonic-clonic seizure	114327	EFHC1	OMIM:254770
HP:0002069	Bilateral tonic-clonic seizure	2742	GLRA2	OMIM:301076
HP:0002069	Bilateral tonic-clonic seizure	9896	FIG4	ORPHA:208441
HP:0002069	Bilateral tonic-clonic seizure	80331	DNAJC5	OMIM:162350
HP:0002069	Bilateral tonic-clonic seizure	51645	PPIL1	OMIM:619301
HP:0002069	Bilateral tonic-clonic seizure	51362	CDC40	OMIM:619302
HP:0002069	Bilateral tonic-clonic seizure	2702	GJA5	OMIM:612474
HP:0002069	Bilateral tonic-clonic seizure	2703	GJA8	OMIM:612474
HP:0002069	Bilateral tonic-clonic seizure	10243	GPHN	OMIM:615501
HP:0002069	Bilateral tonic-clonic seizure	22858	CILK1	OMIM:617924
HP:0002069	Bilateral tonic-clonic seizure	81603	TRIM8	OMIM:619428
HP:0002069	Bilateral tonic-clonic seizure	81603	TRIM8	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	57094	CPA6	OMIM:614417
HP:0002069	Bilateral tonic-clonic seizure	57094	CPA6	OMIM:614418
HP:0002069	Bilateral tonic-clonic seizure	6792	CDKL5	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	3736	KCNA1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	9091	PIGQ	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2775	GNAO1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2775	GNAO1	OMIM:617493
HP:0002069	Bilateral tonic-clonic seizure	2902	GRIN1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2902	GRIN1	ORPHA:208447
HP:0002069	Bilateral tonic-clonic seizure	79751	SLC25A22	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	8573	CASK	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	23312	DMXL2	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2917	GRM7	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	170302	ARX	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	11284	PNKP	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	51227	PIGP	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	4761	NEUROD2	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	57526	PCDH19	ORPHA:101039
HP:0002069	Bilateral tonic-clonic seizure	57526	PCDH19	OMIM:300088
HP:0002069	Bilateral tonic-clonic seizure	84706	GPT2	OMIM:616281
HP:0002069	Bilateral tonic-clonic seizure	4564	MT-TH	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	10059	DNM1L	ORPHA:330050
HP:0002069	Bilateral tonic-clonic seizure	8243	SMC1A	OMIM:301044
HP:0002069	Bilateral tonic-clonic seizure	1173	AP2M1	OMIM:618587
HP:0002069	Bilateral tonic-clonic seizure	56896	DPYSL5	OMIM:619435
HP:0002069	Bilateral tonic-clonic seizure	1859	DYRK1A	ORPHA:268261
HP:0002069	Bilateral tonic-clonic seizure	123606	NIPA1	ORPHA:100988
HP:0002069	Bilateral tonic-clonic seizure	11133	KPTN	OMIM:615637
HP:0002069	Bilateral tonic-clonic seizure	6328	SCN3A	OMIM:617935
HP:0002069	Bilateral tonic-clonic seizure	4967	OGDH	OMIM:203740
HP:0002069	Bilateral tonic-clonic seizure	51807	TUBA8	ORPHA:250972
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	OMIM:614558
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	OMIM:617080
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	OMIM:121200
HP:0002069	Bilateral tonic-clonic seizure	3786	KCNQ3	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	3786	KCNQ3	OMIM:121201
HP:0002069	Bilateral tonic-clonic seizure	22845	DOLK	ORPHA:91131
HP:0002069	Bilateral tonic-clonic seizure	546	ATRX	OMIM:301040
HP:0002069	Bilateral tonic-clonic seizure	10102	TSFM	OMIM:610505
HP:0002069	Bilateral tonic-clonic seizure	2258	FGF13	OMIM:301058
HP:0002069	Bilateral tonic-clonic seizure	51412	ACTL6B	OMIM:618470
HP:0002069	Bilateral tonic-clonic seizure	5631	PRPS1	ORPHA:423479
HP:0002069	Bilateral tonic-clonic seizure	5515	PPP2CA	OMIM:618354
HP:0002069	Bilateral tonic-clonic seizure	4695	NDUFA2	OMIM:618235
HP:0002069	Bilateral tonic-clonic seizure	6096	RORB	OMIM:618357
HP:0002069	Bilateral tonic-clonic seizure	8867	SYNJ1	OMIM:617389
HP:0002069	Bilateral tonic-clonic seizure	3745	KCNB1	OMIM:616056
HP:0002069	Bilateral tonic-clonic seizure	6900	CNTN2	OMIM:615400
HP:0002069	Bilateral tonic-clonic seizure	5660	PSAP	ORPHA:139406
HP:0002069	Bilateral tonic-clonic seizure	29078	NDUFAF4	OMIM:618237
HP:0002069	Bilateral tonic-clonic seizure	50	ACO2	OMIM:614559
HP:0002069	Bilateral tonic-clonic seizure	6301	SARS1	OMIM:617709
HP:0002069	Bilateral tonic-clonic seizure	3767	KCNJ11	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3767	KCNJ11	OMIM:618856
HP:0002069	Bilateral tonic-clonic seizure	6774	STAT3	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	2645	GCK	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3651	PDX1	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	6833	ABCC8	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3630	INS	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	2891	GRIA2	OMIM:618917
HP:0002069	Bilateral tonic-clonic seizure	3778	KCNMA1	ORPHA:79137
HP:0002069	Bilateral tonic-clonic seizure	8869	ST3GAL5	OMIM:609056
HP:0002069	Bilateral tonic-clonic seizure	6904	TBCD	ORPHA:496641
HP:0002069	Bilateral tonic-clonic seizure	6904	TBCD	OMIM:617193
HP:0002069	Bilateral tonic-clonic seizure	7337	UBE3A	ORPHA:98795
HP:0002069	Bilateral tonic-clonic seizure	4694	NDUFA1	OMIM:301020
HP:0002069	Bilateral tonic-clonic seizure	8925	HERC1	ORPHA:457359
HP:0002069	Bilateral tonic-clonic seizure	79641	ROGDI	OMIM:226750
HP:0002069	Bilateral tonic-clonic seizure	513	ATP5F1D	OMIM:618120
HP:0002069	Bilateral tonic-clonic seizure	8260	NAA10	OMIM:300855
HP:0002069	Bilateral tonic-clonic seizure	3746	KCNC1	OMIM:616187
HP:0002069	Bilateral tonic-clonic seizure	5530	PPP3CA	OMIM:617711
HP:0002069	Bilateral tonic-clonic seizure	116150	NUS1	OMIM:617831
HP:0002069	Bilateral tonic-clonic seizure	116150	NUS1	OMIM:617082
HP:0002069	Bilateral tonic-clonic seizure	23229	ARHGEF9	OMIM:300607
HP:0002069	Bilateral tonic-clonic seizure	51741	WWOX	OMIM:614322
HP:0002069	Bilateral tonic-clonic seizure	79947	DHDDS	OMIM:617836
HP:0002069	Bilateral tonic-clonic seizure	84188	FAR1	OMIM:619338
HP:0002069	Bilateral tonic-clonic seizure	29920	PYCR2	ORPHA:481152
HP:0002069	Bilateral tonic-clonic seizure	686	BTD	ORPHA:79241
HP:0002069	Bilateral tonic-clonic seizure	9361	LONP1	ORPHA:79243
HP:0002069	Bilateral tonic-clonic seizure	5160	PDHA1	ORPHA:79243
HP:0002069	Bilateral tonic-clonic seizure	51608	GET4	OMIM:620200
HP:0002069	Bilateral tonic-clonic seizure	3431	SP110	ORPHA:79124
HP:0002069	Bilateral tonic-clonic seizure	128989	TANGO2	ORPHA:480864
HP:0002069	Bilateral tonic-clonic seizure	6821	SUOX	OMIM:272300
HP:0002069	Bilateral tonic-clonic seizure	2898	GRIK2	OMIM:619580
HP:0002069	Bilateral tonic-clonic seizure	1137	CHRNA4	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1135	CHRNA2	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	57010	CABP4	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1141	CHRNB2	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	57582	KCNT1	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1392	CRH	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	23258	DENND5A	OMIM:617281
HP:0002069	Bilateral tonic-clonic seizure	774	CACNA1B	OMIM:618497
HP:0002069	Bilateral tonic-clonic seizure	135	ADORA2A	ORPHA:363549
HP:0002069	Bilateral tonic-clonic seizure	523	ATP6V1A	OMIM:618012
HP:0002069	Bilateral tonic-clonic seizure	2257	FGF12	OMIM:617166
HP:0002069	Bilateral tonic-clonic seizure	23152	CIC	OMIM:617600
HP:0002069	Bilateral tonic-clonic seizure	208	AKT2	OMIM:240900
HP:0002069	Bilateral tonic-clonic seizure	5723	PSPH	ORPHA:79350
HP:0002069	Bilateral tonic-clonic seizure	57187	THOC2	ORPHA:457240
HP:0002069	Bilateral tonic-clonic seizure	26227	PHGDH	ORPHA:79351
HP:0002069	Bilateral tonic-clonic seizure	60386	SLC25A19	ORPHA:99742
HP:0002069	Bilateral tonic-clonic seizure	50801	KCNK4	OMIM:618381
HP:0002069	Bilateral tonic-clonic seizure	10771	ZMYND11	OMIM:616083
HP:0002069	Bilateral tonic-clonic seizure	8943	AP3D1	OMIM:617050
HP:0002069	Bilateral tonic-clonic seizure	10522	DEAF1	OMIM:617171
HP:0002069	Bilateral tonic-clonic seizure	11212	PLPBP	OMIM:617290
HP:0002069	Bilateral tonic-clonic seizure	37	ACADVL	OMIM:201475
HP:0002069	Bilateral tonic-clonic seizure	5281	PIGF	OMIM:619356
HP:0002069	Bilateral tonic-clonic seizure	2892	GRIA3	ORPHA:364028
HP:0002069	Bilateral tonic-clonic seizure	6812	STXBP1	OMIM:612164
HP:0002069	Bilateral tonic-clonic seizure	94005	PIGS	OMIM:618143
HP:0002069	Bilateral tonic-clonic seizure	3747	KCNC2	OMIM:619913
HP:0002069	Bilateral tonic-clonic seizure	22931	RAB18	OMIM:614222
HP:0002069	Bilateral tonic-clonic seizure	4929	NR4A2	OMIM:619911
HP:0002069	Bilateral tonic-clonic seizure	80036	TRPM3	OMIM:620224
HP:0002069	Bilateral tonic-clonic seizure	1917	EEF1A2	OMIM:616409
HP:0002069	Bilateral tonic-clonic seizure	378884	NHLRC1	ORPHA:501
HP:0002069	Bilateral tonic-clonic seizure	378884	NHLRC1	OMIM:254780
HP:0002069	Bilateral tonic-clonic seizure	7957	EPM2A	ORPHA:501
HP:0002069	Bilateral tonic-clonic seizure	7957	EPM2A	OMIM:254780
HP:0002069	Bilateral tonic-clonic seizure	526	ATP6V1B2	ORPHA:79500
HP:0002069	Bilateral tonic-clonic seizure	56910	STARD7	OMIM:607876
HP:0002069	Bilateral tonic-clonic seizure	122553	TRAPPC6B	OMIM:617862
HP:0002069	Bilateral tonic-clonic seizure	51124	IER3IP1	OMIM:614231
HP:0002069	Bilateral tonic-clonic seizure	23067	SETD1B	OMIM:619000
HP:0002069	Bilateral tonic-clonic seizure	10319	LAMC3	OMIM:614115
HP:0002069	Bilateral tonic-clonic seizure	81562	LMAN2L	OMIM:617863
HP:0002069	Bilateral tonic-clonic seizure	55704	CCDC88A	OMIM:617507
HP:0002069	Bilateral tonic-clonic seizure	9739	SETD1A	OMIM:618832
HP:0002069	Bilateral tonic-clonic seizure	23096	IQSEC2	OMIM:309530
HP:0002069	Bilateral tonic-clonic seizure	54676	GTPBP2	OMIM:617988
HP:0002069	Bilateral tonic-clonic seizure	95	ACY1	OMIM:609924
HP:0002069	Bilateral tonic-clonic seizure	84823	LMNB2	OMIM:616540
HP:0002069	Bilateral tonic-clonic seizure	7157	TP53	OMIM:618165
HP:0002069	Bilateral tonic-clonic seizure	1284	COL4A2	OMIM:614483
HP:0002069	Bilateral tonic-clonic seizure	4724	NDUFS4	OMIM:252010
HP:0002069	Bilateral tonic-clonic seizure	8831	SYNGAP1	OMIM:612621
HP:0002069	Bilateral tonic-clonic seizure	3295	HSD17B4	OMIM:261515
HP:0002069	Bilateral tonic-clonic seizure	4750	NEK1	ORPHA:2751
HP:0002069	Bilateral tonic-clonic seizure	54936	ADPRS	OMIM:618170
HP:0002069	Bilateral tonic-clonic seizure	60684	TRAPPC11	ORPHA:369840
HP:0002069	Bilateral tonic-clonic seizure	79587	CARS2	OMIM:616672
HP:0002069	Bilateral tonic-clonic seizure	8738	CRADD	OMIM:614499
HP:0002069	Bilateral tonic-clonic seizure	2260	FGFR1	OMIM:615465
HP:0002069	Bilateral tonic-clonic seizure	55367	PIDD1	OMIM:619827
HP:0002069	Bilateral tonic-clonic seizure	25978	CHMP2B	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	5663	PSEN1	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	2896	GRN	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	54664	TMEM106B	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	8878	SQSTM1	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	4137	MAPT	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	54209	TREM2	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	7415	VCP	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	8449	DHX16	OMIM:618733
HP:0002069	Bilateral tonic-clonic seizure	55753	OGDHL	OMIM:619701
HP:0002069	Bilateral tonic-clonic seizure	9570	GOSR2	OMIM:614018
HP:0002069	Bilateral tonic-clonic seizure	23236	PLCB1	OMIM:613722
HP:0002069	Bilateral tonic-clonic seizure	11342	RNF13	ORPHA:544503
HP:0002069	Bilateral tonic-clonic seizure	10299	MARCHF6	OMIM:613608
HP:0002069	Bilateral tonic-clonic seizure	1181	CLCN2	OMIM:607628
HP:0002069	Bilateral tonic-clonic seizure	10479	SLC9A6	OMIM:300243
HP:0002069	Bilateral tonic-clonic seizure	6584	SLC22A5	ORPHA:158
HP:0002069	Bilateral tonic-clonic seizure	51083	GAL	OMIM:616461
HP:0002069	Bilateral tonic-clonic seizure	57107	PDSS2	ORPHA:255249
HP:0002069	Bilateral tonic-clonic seizure	57107	PDSS2	OMIM:614652
HP:0002069	Bilateral tonic-clonic seizure	27235	COQ2	ORPHA:255249
HP:0002069	Bilateral tonic-clonic seizure	26047	CNTNAP2	OMIM:610042
HP:0002069	Bilateral tonic-clonic seizure	26047	CNTNAP2	ORPHA:163681
HP:0002069	Bilateral tonic-clonic seizure	27286	SRPX2	ORPHA:163721
HP:0002069	Bilateral tonic-clonic seizure	27286	SRPX2	ORPHA:1945
HP:0002069	Bilateral tonic-clonic seizure	23334	SZT2	OMIM:615476
HP:0002069	Bilateral tonic-clonic seizure	53616	ADAM22	OMIM:617933
HP:0002069	Bilateral tonic-clonic seizure	123263	MTFMT	OMIM:614947
HP:0002069	Bilateral tonic-clonic seizure	8496	PPFIBP1	OMIM:620024
HP:0002069	Bilateral tonic-clonic seizure	83480	PUS3	ORPHA:488627
HP:0002069	Bilateral tonic-clonic seizure	8085	KMT2D	OMIM:147920
HP:0002069	Bilateral tonic-clonic seizure	7403	KDM6A	OMIM:147920
HP:0002069	Bilateral tonic-clonic seizure	427	ASAH1	ORPHA:2590
HP:0002069	Bilateral tonic-clonic seizure	4677	NARS1	OMIM:619091
HP:0002069	Bilateral tonic-clonic seizure	4677	NARS1	OMIM:619092
HP:0002069	Bilateral tonic-clonic seizure	1351	COX8A	OMIM:619059
HP:0002069	Bilateral tonic-clonic seizure	2629	GBA1	ORPHA:2072
HP:0002069	Bilateral tonic-clonic seizure	149371	EXOC8	OMIM:619076
HP:0002069	Bilateral tonic-clonic seizure	55275	VPS53	OMIM:615851
HP:0002069	Bilateral tonic-clonic seizure	6529	SLC6A1	ORPHA:1942
HP:0002069	Bilateral tonic-clonic seizure	9289	ADGRG1	ORPHA:101070
HP:0002069	Bilateral tonic-clonic seizure	5728	PTEN	ORPHA:101070
HP:0002069	Bilateral tonic-clonic seizure	2571	GAD1	OMIM:619124
HP:0002069	Bilateral tonic-clonic seizure	51075	TMX2	OMIM:618730
HP:0002069	Bilateral tonic-clonic seizure	84274	COQ5	OMIM:619028
HP:0002069	Bilateral tonic-clonic seizure	5833	PCYT2	OMIM:618770
HP:0002069	Bilateral tonic-clonic seizure	3658	IREB2	OMIM:618451
HP:0002069	Bilateral tonic-clonic seizure	283989	TSEN54	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	116461	TSEN15	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	79042	TSEN34	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	80746	TSEN2	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	51091	SEPSECS	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	2558	GABRA5	OMIM:618559
HP:0002069	Bilateral tonic-clonic seizure	5813	PURA	ORPHA:314655
HP:0002069	Bilateral tonic-clonic seizure	23031	MAST3	OMIM:620115
HP:0002069	Bilateral tonic-clonic seizure	5830	PEX5	OMIM:616716
HP:0002069	Bilateral tonic-clonic seizure	6844	VAMP2	OMIM:618760
HP:0009226	Short proximal phalanx of the 5th finger	56992	KIF15	ORPHA:261323
HP:0012286	Abnormal hypothalamus morphology	2737	GLI3	ORPHA:672
HP:0012286	Abnormal hypothalamus morphology	2737	GLI3	OMIM:146510
HP:0012286	Abnormal hypothalamus morphology	8481	OFD1	OMIM:311200
HP:0012286	Abnormal hypothalamus morphology	8481	OFD1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	6608	SMO	OMIM:241800
HP:0012286	Abnormal hypothalamus morphology	64601	VPS16	OMIM:619291
HP:0012286	Abnormal hypothalamus morphology	4990	SIX6	OMIM:206900
HP:0012286	Abnormal hypothalamus morphology	6657	SOX2	OMIM:206900
HP:0012286	Abnormal hypothalamus morphology	4123	MAN2C1	OMIM:619775
HP:0012286	Abnormal hypothalamus morphology	65250	CPLANE1	OMIM:277170
HP:0012286	Abnormal hypothalamus morphology	65250	CPLANE1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	7074	TIAM1	OMIM:619908
HP:0012286	Abnormal hypothalamus morphology	10210	TOPORS	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	9851	KIAA0753	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	26123	TCTN3	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	5147	PDE6D	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	51259	TMEM216	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	317662	FAM149B1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	374654	KIF7	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	3953	LEPR	OMIM:614963
HP:0012286	Abnormal hypothalamus morphology	1499	CTNNB1	ORPHA:54595
HP:0012286	Abnormal hypothalamus morphology	673	BRAF	ORPHA:54595
HP:0012286	Abnormal hypothalamus morphology	80208	SPG11	ORPHA:2822
HP:0012286	Abnormal hypothalamus morphology	1000	CDH2	OMIM:618929
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	6492	SIM1	ORPHA:398079
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	54551	MAGEL2	ORPHA:398069
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	8022	LHX3	ORPHA:231720
HP:0012288	Neoplasm of head and neck	6772	STAT1	ORPHA:391487
HP:0012288	Neoplasm of head and neck	10043	TOM1	ORPHA:391487
HP:0012288	Neoplasm of head and neck	6049	RNF6	ORPHA:99977
HP:0012288	Neoplasm of head and neck	6049	RNF6	OMIM:133239
HP:0012288	Neoplasm of head and neck	7048	TGFBR2	ORPHA:99977
HP:0012288	Neoplasm of head and neck	7048	TGFBR2	OMIM:133239
HP:0012288	Neoplasm of head and neck	51741	WWOX	ORPHA:99977
HP:0012288	Neoplasm of head and neck	51741	WWOX	OMIM:133239
HP:0012288	Neoplasm of head and neck	9940	DLEC1	ORPHA:99977
HP:0012288	Neoplasm of head and neck	324	APC	ORPHA:247806
HP:0012288	Neoplasm of head and neck	324	APC	ORPHA:79665
HP:0012288	Neoplasm of head and neck	11178	LZTS1	OMIM:133239
HP:0012288	Neoplasm of head and neck	1630	DCC	OMIM:133239
HP:0012288	Neoplasm of head and neck	1499	CTNNB1	ORPHA:91414
HP:0012288	Neoplasm of head and neck	2304	FOXE1	ORPHA:319487
HP:0012288	Neoplasm of head and neck	3026	HABP2	ORPHA:319487
HP:0012288	Neoplasm of head and neck	9562	MINPP1	ORPHA:319487
HP:0012288	Neoplasm of head and neck	7157	TP53	ORPHA:524
HP:0012288	Neoplasm of head and neck	1029	CDKN2A	ORPHA:524
HP:0012288	Neoplasm of head and neck	4193	MDM2	ORPHA:524
HP:0012288	Neoplasm of head and neck	11200	CHEK2	ORPHA:524
HP:0012288	Neoplasm of head and neck	5573	PRKAR1A	ORPHA:1359
HP:0012288	Neoplasm of head and neck	50940	PDE11A	ORPHA:1359
HP:0012288	Neoplasm of head and neck	115908	CTHRC1	OMIM:614266
HP:0012288	Neoplasm of head and neck	4481	MSR1	OMIM:614266
HP:0012288	Neoplasm of head and neck	51008	ASCC1	OMIM:614266
HP:0012288	Neoplasm of head and neck	5885	RAD21	OMIM:611376
HP:0012288	Neoplasm of head and neck	4629	MYH11	OMIM:619350
HP:0012288	Neoplasm of head and neck	2271	FH	ORPHA:523
HP:0012288	Neoplasm of head and neck	641	BLM	ORPHA:125
HP:0012288	Neoplasm of head and neck	6794	STK11	ORPHA:2869
HP:0012288	Neoplasm of head and neck	79651	RHBDF2	ORPHA:2198
HP:0012288	Neoplasm of head and neck	6389	SDHA	ORPHA:44890
HP:0012288	Neoplasm of head and neck	6390	SDHB	ORPHA:44890
HP:0012288	Neoplasm of head and neck	6391	SDHC	ORPHA:44890
HP:0012288	Neoplasm of head and neck	5156	PDGFRA	ORPHA:44890
HP:0012288	Neoplasm of head and neck	3815	KIT	ORPHA:44890
HP:0012288	Neoplasm of head and neck	1288	COL4A6	ORPHA:1018
HP:0012288	Neoplasm of head and neck	1287	COL4A5	ORPHA:1018
HP:0012288	Neoplasm of head and neck	7373	COL14A1	ORPHA:79501
HP:0012288	Neoplasm of head and neck	79719	AAGAB	ORPHA:79501
HP:0012289	Facial neoplasm	6794	STK11	ORPHA:2869
HP:0012289	Facial neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0012289	Facial neoplasm	50940	PDE11A	ORPHA:1359
HP:0012282	Morbilliform rash	4598	MVK	OMIM:610377
HP:0012283	Small distal femoral epiphysis	1301	COL11A1	OMIM:154780
HP:0012284	Small proximal tibial epiphyses	1301	COL11A1	OMIM:154780
HP:0012284	Small proximal tibial epiphyses	388015	RTL1	ORPHA:96334
HP:0012284	Small proximal tibial epiphyses	8788	DLK1	ORPHA:96334
HP:0012284	Small proximal tibial epiphyses	55384	MEG3	ORPHA:96334
HP:0012285	Abnormal hypothalamus physiology	3730	ANOS1	OMIM:308700
HP:0012285	Abnormal hypothalamus physiology	3730	ANOS1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	79625	NDNF	OMIM:618841
HP:0012285	Abnormal hypothalamus physiology	79625	NDNF	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	10371	SEMA3A	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	81848	SPRY4	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	23767	FLRT3	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	128674	PROKR2	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	389549	FEZF1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	1630	DCC	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	54756	IL17RD	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	6663	SOX10	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	285025	CCDC141	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	60675	PROK2	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	55636	CHD7	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	1848	DUSP6	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	6870	TACR3	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	55717	WDR11	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	9394	HS6ST1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	8820	HESX1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	8822	FGF17	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	7200	TRH	OMIM:275120
HP:0012285	Abnormal hypothalamus physiology	2260	FGFR1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2260	FGFR1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	10735	STAG2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	10735	STAG2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8243	SMC1A	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8314	BAP1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	4771	NF2	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6598	SMARCB1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	5155	PDGFB	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	84231	TRAF7	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6608	SMO	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	207	AKT1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	5290	PIK3CA	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	7015	TERT	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	51684	SUFU	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6605	SMARCE1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	23007	PLCH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6492	SIM1	ORPHA:398079
HP:0012285	Abnormal hypothalamus physiology	54551	MAGEL2	ORPHA:398069
HP:0012285	Abnormal hypothalamus physiology	8022	LHX3	ORPHA:231720
HP:0012280	Hepatic amyloidosis	9056	SLC7A7	ORPHA:470
HP:0012280	Hepatic amyloidosis	7132	TNFRSF1A	OMIM:142680
HP:0012280	Hepatic amyloidosis	567	B2M	ORPHA:314652
HP:0032692	Focal cognitive seizure with forced thinking	51083	GAL	OMIM:616461
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	9241	NOG	OMIM:184460
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	8200	GDF5	OMIM:615298
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0002070	Limb ataxia	64374	SIL1	OMIM:248800
HP:0002070	Limb ataxia	4287	ATXN3	OMIM:109150
HP:0002070	Limb ataxia	23646	PLD3	OMIM:617770
HP:0002070	Limb ataxia	9897	WASHC5	ORPHA:100989
HP:0002070	Limb ataxia	146227	BEAN1	OMIM:117210
HP:0002070	Limb ataxia	9420	CYP7B1	ORPHA:100986
HP:0002070	Limb ataxia	79876	UBA5	OMIM:617133
HP:0002070	Limb ataxia	4311	MME	OMIM:617018
HP:0002070	Limb ataxia	4311	MME	ORPHA:497764
HP:0002070	Limb ataxia	23345	SYNE1	OMIM:610743
HP:0002070	Limb ataxia	5428	POLG	OMIM:258450
HP:0002070	Limb ataxia	144165	PRICKLE1	ORPHA:308
HP:0002070	Limb ataxia	1476	CSTB	ORPHA:308
HP:0002070	Limb ataxia	950	SCARB2	ORPHA:308
HP:0002070	Limb ataxia	57465	TBC1D24	OMIM:605021
HP:0002070	Limb ataxia	6548	SLC9A1	OMIM:616291
HP:0002070	Limb ataxia	3748	KCNC3	OMIM:605259
HP:0002070	Limb ataxia	3748	KCNC3	ORPHA:98768
HP:0002070	Limb ataxia	25814	ATXN10	OMIM:603516
HP:0002070	Limb ataxia	6311	ATXN2	OMIM:183090
HP:0002070	Limb ataxia	8878	SQSTM1	OMIM:617145
HP:0002070	Limb ataxia	10528	NOP56	OMIM:614153
HP:0002070	Limb ataxia	10528	NOP56	ORPHA:276198
HP:0002070	Limb ataxia	10273	STUB1	OMIM:615768
HP:0002070	Limb ataxia	10273	STUB1	ORPHA:412057
HP:0002070	Limb ataxia	1340	COX6B1	OMIM:619051
HP:0002070	Limb ataxia	146057	TTBK2	OMIM:604432
HP:0002070	Limb ataxia	2895	GRID2	ORPHA:363432
HP:0002070	Limb ataxia	55154	MSTO1	OMIM:617675
HP:0002070	Limb ataxia	1181	CLCN2	OMIM:615651
HP:0002070	Limb ataxia	4125	MAN2B1	OMIM:248500
HP:0002070	Limb ataxia	51741	WWOX	OMIM:614322
HP:0002070	Limb ataxia	51741	WWOX	ORPHA:284282
HP:0002070	Limb ataxia	5173	PDYN	OMIM:610245
HP:0002070	Limb ataxia	5173	PDYN	ORPHA:101108
HP:0002070	Limb ataxia	10939	AFG3L2	OMIM:610246
HP:0002070	Limb ataxia	10939	AFG3L2	ORPHA:101109
HP:0002070	Limb ataxia	23203	PMPCA	OMIM:213200
HP:0002070	Limb ataxia	7276	TTR	OMIM:105210
HP:0002070	Limb ataxia	55187	VPS13D	ORPHA:95434
HP:0002070	Limb ataxia	27072	VPS41	ORPHA:95434
HP:0002070	Limb ataxia	343641	TGM6	ORPHA:276193
HP:0002070	Limb ataxia	215	ABCD1	OMIM:300100
HP:0002070	Limb ataxia	6712	SPTBN2	OMIM:600224
HP:0002070	Limb ataxia	10715	CERS1	OMIM:616230
HP:0002070	Limb ataxia	823	CAPN1	ORPHA:488594
HP:0002070	Limb ataxia	7852	CXCR4	ORPHA:51636
HP:0002070	Limb ataxia	84504	NKX6-2	OMIM:617560
HP:0002070	Limb ataxia	10935	PRDX3	OMIM:619862
HP:0002070	Limb ataxia	2257	FGF12	OMIM:617166
HP:0002070	Limb ataxia	51271	UBAP1	OMIM:618418
HP:0002070	Limb ataxia	51271	UBAP1	ORPHA:100993
HP:0002070	Limb ataxia	5981	RFC1	OMIM:614575
HP:0002070	Limb ataxia	1200	TPP1	OMIM:609270
HP:0002070	Limb ataxia	1200	TPP1	ORPHA:284324
HP:0002070	Limb ataxia	54840	APTX	OMIM:208920
HP:0002070	Limb ataxia	2705	GJB1	ORPHA:1175
HP:0002070	Limb ataxia	4747	NEFL	ORPHA:101085
HP:0002070	Limb ataxia	2395	FXN	ORPHA:95
HP:0002070	Limb ataxia	2395	FXN	OMIM:229300
HP:0002070	Limb ataxia	6908	TBP	OMIM:607136
HP:0002070	Limb ataxia	5376	PMP22	ORPHA:3115
HP:0002070	Limb ataxia	4359	MPZ	ORPHA:3115
HP:0002070	Limb ataxia	5192	PEX10	ORPHA:247815
HP:0002070	Limb ataxia	5192	PEX10	OMIM:614871
HP:0002070	Limb ataxia	2259	FGF14	OMIM:620174
HP:0002070	Limb ataxia	2259	FGF14	ORPHA:98764
HP:0002070	Limb ataxia	2259	FGF14	OMIM:193003
HP:0002070	Limb ataxia	3752	KCND3	ORPHA:98772
HP:0002070	Limb ataxia	3752	KCND3	OMIM:607346
HP:0002070	Limb ataxia	1938	EEF2	OMIM:609306
HP:0002070	Limb ataxia	1938	EEF2	ORPHA:101112
HP:0002070	Limb ataxia	55773	TBC1D23	OMIM:617695
HP:0002070	Limb ataxia	58494	JAM2	OMIM:618824
HP:0002070	Limb ataxia	55280	CWF19L1	OMIM:616127
HP:0002070	Limb ataxia	54902	TTC19	OMIM:615157
HP:0002070	Limb ataxia	255928	SYT14	OMIM:614229
HP:0002070	Limb ataxia	255928	SYT14	ORPHA:284271
HP:0002070	Limb ataxia	27235	COQ2	ORPHA:227510
HP:0002070	Limb ataxia	60481	ELOVL5	OMIM:615957
HP:0002070	Limb ataxia	5582	PRKCG	ORPHA:98763
HP:0002070	Limb ataxia	1822	ATN1	ORPHA:101
HP:0002070	Limb ataxia	724066	ATXN8	ORPHA:98760
HP:0002070	Limb ataxia	6315	ATXN8OS	ORPHA:98760
HP:0002070	Limb ataxia	53335	BCL11A	OMIM:617101
HP:0002070	Limb ataxia	1356	CP	ORPHA:48818
HP:0002070	Limb ataxia	3708	ITPR1	OMIM:117360
HP:0002070	Limb ataxia	3708	ITPR1	OMIM:606658
HP:0002070	Limb ataxia	7443	VRK1	OMIM:607596
HP:0002070	Limb ataxia	6785	ELOVL4	OMIM:133190
HP:0002070	Limb ataxia	9711	RUBCN	ORPHA:404499
HP:0002070	Limb ataxia	55129	ANO10	ORPHA:284289
HP:0002070	Limb ataxia	55129	ANO10	OMIM:613728
HP:0002070	Limb ataxia	5621	PRNP	OMIM:137440
HP:0002070	Limb ataxia	6324	SCN1B	OMIM:617350
HP:0002070	Limb ataxia	6389	SDHA	OMIM:619259
HP:0002070	Limb ataxia	2629	GBA1	ORPHA:2072
HP:0002070	Limb ataxia	10463	SLC30A9	OMIM:617595
HP:0002070	Limb ataxia	55149	MTPAP	OMIM:613672
HP:0002070	Limb ataxia	7515	XRCC1	OMIM:617633
HP:0002070	Limb ataxia	6843	VAMP1	ORPHA:251282
HP:0002070	Limb ataxia	6253	RTN2	ORPHA:100993
HP:0002070	Limb ataxia	2196	FAT2	OMIM:617769
HP:0002070	Limb ataxia	57410	SCYL1	OMIM:616719
HP:0002070	Limb ataxia	339453	TMEM240	OMIM:607454
HP:0002070	Limb ataxia	23064	SETX	OMIM:606002
HP:0002070	Limb ataxia	6310	ATXN1	OMIM:164400
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:605543
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	ORPHA:171695
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:168601
HP:0002071	Abnormality of extrapyramidal motor function	4287	ATXN3	OMIM:109150
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	OMIM:601104
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	ORPHA:240071
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	ORPHA:240112
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	OMIM:600274
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	OMIM:260540
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	10159	ATP6AP2	OMIM:300911
HP:0002071	Abnormality of extrapyramidal motor function	10159	ATP6AP2	OMIM:300423
HP:0002071	Abnormality of extrapyramidal motor function	2521	FUS	OMIM:614782
HP:0002071	Abnormality of extrapyramidal motor function	2521	FUS	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	2521	FUS	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	23516	SLC39A14	OMIM:617013
HP:0002071	Abnormality of extrapyramidal motor function	23516	SLC39A14	ORPHA:521406
HP:0002071	Abnormality of extrapyramidal motor function	54832	VPS13C	OMIM:616840
HP:0002071	Abnormality of extrapyramidal motor function	400916	CHCHD10	OMIM:615911
HP:0002071	Abnormality of extrapyramidal motor function	400916	CHCHD10	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	5428	POLG	OMIM:258450
HP:0002071	Abnormality of extrapyramidal motor function	5428	POLG	OMIM:157640
HP:0002071	Abnormality of extrapyramidal motor function	4353	MPO	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	4846	NOS3	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	3077	HFE	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	351	APP	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	351	APP	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	5328	PLAU	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	9256	TSPOAP1	ORPHA:101150
HP:0002071	Abnormality of extrapyramidal motor function	7054	TH	ORPHA:101150
HP:0002071	Abnormality of extrapyramidal motor function	7054	TH	OMIM:605407
HP:0002071	Abnormality of extrapyramidal motor function	8878	SQSTM1	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:329478
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	23435	TARDBP	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	29110	TBK1	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	6571	SLC18A2	ORPHA:352649
HP:0002071	Abnormality of extrapyramidal motor function	6571	SLC18A2	OMIM:618049
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	OMIM:146500
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	ORPHA:98933
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	ORPHA:227510
HP:0002071	Abnormality of extrapyramidal motor function	478	ATP1A3	OMIM:128235
HP:0002071	Abnormality of extrapyramidal motor function	478	ATP1A3	ORPHA:71517
HP:0002071	Abnormality of extrapyramidal motor function	5521	PPP2R2B	OMIM:604326
HP:0002071	Abnormality of extrapyramidal motor function	5521	PPP2R2B	ORPHA:98762
HP:0002071	Abnormality of extrapyramidal motor function	1639	DCTN1	ORPHA:178509
HP:0002071	Abnormality of extrapyramidal motor function	1639	DCTN1	OMIM:168605
HP:0002071	Abnormality of extrapyramidal motor function	6531	SLC6A3	ORPHA:238455
HP:0002071	Abnormality of extrapyramidal motor function	6531	SLC6A3	OMIM:613135
HP:0002071	Abnormality of extrapyramidal motor function	1822	ATN1	OMIM:125370
HP:0002071	Abnormality of extrapyramidal motor function	84909	AOPEP	OMIM:619565
HP:0002071	Abnormality of extrapyramidal motor function	56521	DNAJC12	OMIM:617384
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	OMIM:183090
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	ORPHA:98756
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	5155	PDGFB	OMIM:615483
HP:0002071	Abnormality of extrapyramidal motor function	5155	PDGFB	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	5575	PRKAR1B	ORPHA:412066
HP:0002071	Abnormality of extrapyramidal motor function	5159	PDGFRB	OMIM:615007
HP:0002071	Abnormality of extrapyramidal motor function	5159	PDGFRB	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	5610	EIF2AK2	OMIM:618877
HP:0002071	Abnormality of extrapyramidal motor function	3781	KCNN2	OMIM:619725
HP:0002071	Abnormality of extrapyramidal motor function	11152	WDR45	ORPHA:329284
HP:0002071	Abnormality of extrapyramidal motor function	11152	WDR45	OMIM:300894
HP:0002071	Abnormality of extrapyramidal motor function	9829	DNAJC6	OMIM:615528
HP:0002071	Abnormality of extrapyramidal motor function	54822	TRPM7	OMIM:105500
HP:0002071	Abnormality of extrapyramidal motor function	5071	PRKN	OMIM:600116
HP:0002071	Abnormality of extrapyramidal motor function	8575	PRKRA	ORPHA:210571
HP:0002071	Abnormality of extrapyramidal motor function	8575	PRKRA	OMIM:612067
HP:0002071	Abnormality of extrapyramidal motor function	4204	MECP2	OMIM:300055
HP:0002071	Abnormality of extrapyramidal motor function	4204	MECP2	ORPHA:3077
HP:0002071	Abnormality of extrapyramidal motor function	8867	SYNJ1	OMIM:615530
HP:0002071	Abnormality of extrapyramidal motor function	7343	UBTF	OMIM:617672
HP:0002071	Abnormality of extrapyramidal motor function	55737	VPS35	OMIM:614203
HP:0002071	Abnormality of extrapyramidal motor function	55737	VPS35	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	10352	WARS2	OMIM:619738
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	23317	DNAJC13	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	1981	EIF4G1	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	1981	EIF4G1	OMIM:614251
HP:0002071	Abnormality of extrapyramidal motor function	120892	LRRK2	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	120892	LRRK2	OMIM:607060
HP:0002071	Abnormality of extrapyramidal motor function	26058	GIGYF2	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	10939	AFG3L2	OMIM:610246
HP:0002071	Abnormality of extrapyramidal motor function	10939	AFG3L2	ORPHA:101109
HP:0002071	Abnormality of extrapyramidal motor function	6575	SLC20A2	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	116442	RAB39B	OMIM:311510
HP:0002071	Abnormality of extrapyramidal motor function	2332	FMR1	ORPHA:93256
HP:0002071	Abnormality of extrapyramidal motor function	2332	FMR1	OMIM:300623
HP:0002071	Abnormality of extrapyramidal motor function	56652	TWNK	OMIM:609286
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	OMIM:606693
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	ORPHA:306674
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	OMIM:617225
HP:0002071	Abnormality of extrapyramidal motor function	1130	LYST	ORPHA:167
HP:0002071	Abnormality of extrapyramidal motor function	10273	STUB1	OMIM:618093
HP:0002071	Abnormality of extrapyramidal motor function	5621	PRNP	OMIM:606688
HP:0002071	Abnormality of extrapyramidal motor function	5621	PRNP	OMIM:137440
HP:0002071	Abnormality of extrapyramidal motor function	83636	C19orf12	OMIM:614298
HP:0002071	Abnormality of extrapyramidal motor function	80208	SPG11	ORPHA:2822
HP:0002071	Abnormality of extrapyramidal motor function	80208	SPG11	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	1201	CLN3	OMIM:204200
HP:0002071	Abnormality of extrapyramidal motor function	23230	VPS13A	ORPHA:2388
HP:0002071	Abnormality of extrapyramidal motor function	23230	VPS13A	OMIM:200150
HP:0002071	Abnormality of extrapyramidal motor function	8398	PLA2G6	OMIM:612953
HP:0002071	Abnormality of extrapyramidal motor function	9907	AP5Z1	OMIM:613647
HP:0002071	Abnormality of extrapyramidal motor function	9907	AP5Z1	ORPHA:306511
HP:0002071	Abnormality of extrapyramidal motor function	57338	JPH3	ORPHA:98934
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	OMIM:607136
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	ORPHA:98759
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	5092	PCBD1	ORPHA:1578
HP:0002071	Abnormality of extrapyramidal motor function	2512	FTL	OMIM:606159
HP:0002071	Abnormality of extrapyramidal motor function	2512	FTL	ORPHA:157846
HP:0002071	Abnormality of extrapyramidal motor function	65018	PINK1	OMIM:605909
HP:0002071	Abnormality of extrapyramidal motor function	58494	JAM2	OMIM:618824
HP:0002071	Abnormality of extrapyramidal motor function	1593	CYP27A1	ORPHA:909
HP:0002071	Abnormality of extrapyramidal motor function	2643	GCH1	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	4929	NR4A2	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	4929	NR4A2	OMIM:619911
HP:0002071	Abnormality of extrapyramidal motor function	4929	NR4A2	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	3615	IMPDH2	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	10846	PDE10A	OMIM:616922
HP:0002071	Abnormality of extrapyramidal motor function	6335	SCN9A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6326	SCN2A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	2554	GABRA1	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6323	SCN1A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6324	SCN1B	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	57526	PCDH19	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	2566	GABRG2	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	80025	PANK2	OMIM:234200
HP:0002071	Abnormality of extrapyramidal motor function	80025	PANK2	ORPHA:216873
HP:0002071	Abnormality of extrapyramidal motor function	2896	GRN	OMIM:607485
HP:0002071	Abnormality of extrapyramidal motor function	2896	GRN	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	10280	SIGMAR1	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	10558	SPTLC1	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	57679	ALS2	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	9213	XPR1	OMIM:616413
HP:0002071	Abnormality of extrapyramidal motor function	1356	CP	ORPHA:48818
HP:0002071	Abnormality of extrapyramidal motor function	57462	MYORG	OMIM:618317
HP:0002071	Abnormality of extrapyramidal motor function	6620	SNCB	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	4854	NOTCH3	ORPHA:136
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	OMIM:600274
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	80347	COASY	ORPHA:397725
HP:0002071	Abnormality of extrapyramidal motor function	1436	CSF1R	OMIM:221820
HP:0002071	Abnormality of extrapyramidal motor function	5805	PTS	OMIM:261640
HP:0002071	Abnormality of extrapyramidal motor function	7143	TNR	OMIM:619653
HP:0002071	Abnormality of extrapyramidal motor function	847	CAT	ORPHA:926
HP:0002071	Abnormality of extrapyramidal motor function	5664	PSEN2	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	10452	TOMM40	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	54209	TREM2	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	54209	TREM2	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	10347	ABCA7	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	6653	SORL1	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	80331	DNAJC5	OMIM:162350
HP:0002071	Abnormality of extrapyramidal motor function	3798	KIF5A	ORPHA:100991
HP:0002071	Abnormality of extrapyramidal motor function	3798	KIF5A	OMIM:604187
HP:0002071	Abnormality of extrapyramidal motor function	55532	SLC30A10	OMIM:613280
HP:0002071	Abnormality of extrapyramidal motor function	25793	FBXO7	ORPHA:171695
HP:0002071	Abnormality of extrapyramidal motor function	25793	FBXO7	OMIM:260300
HP:0002071	Abnormality of extrapyramidal motor function	2747	GLUD2	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	126	ADH1C	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	4576	MT-TT	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	9627	SNCAIP	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	6315	ATXN8OS	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	348	APOE	OMIM:104310
HP:0002071	Abnormality of extrapyramidal motor function	339453	TMEM240	OMIM:607454
HP:0002071	Abnormality of extrapyramidal motor function	25978	CHMP2B	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	54664	TMEM106B	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	291	SLC25A4	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	11232	POLG2	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	50484	RRM2B	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	ORPHA:399
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	OMIM:143100
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	ORPHA:248111
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	OMIM:617435
HP:0002071	Abnormality of extrapyramidal motor function	6515	SLC2A3	ORPHA:399
HP:0002071	Abnormality of extrapyramidal motor function	51062	ATL1	ORPHA:100984
HP:0002071	Abnormality of extrapyramidal motor function	7384	UQCRC1	OMIM:619279
HP:0002071	Abnormality of extrapyramidal motor function	7084	TK2	ORPHA:254886
HP:0002071	Abnormality of extrapyramidal motor function	25814	ATXN10	OMIM:603516
HP:0002071	Abnormality of extrapyramidal motor function	26011	TENM4	OMIM:616736
HP:0002071	Abnormality of extrapyramidal motor function	27102	EIF2AK1	OMIM:618878
HP:0002071	Abnormality of extrapyramidal motor function	51204	TACO1	OMIM:619052
HP:0002071	Abnormality of extrapyramidal motor function	8622	PDE8B	OMIM:609161
HP:0002071	Abnormality of extrapyramidal motor function	8622	PDE8B	ORPHA:228169
HP:0002071	Abnormality of extrapyramidal motor function	79947	DHDDS	OMIM:617836
HP:0002071	Abnormality of extrapyramidal motor function	100303755	PET117	OMIM:619063
HP:0002071	Abnormality of extrapyramidal motor function	11315	PARK7	OMIM:606324
HP:0002071	Abnormality of extrapyramidal motor function	11315	PARK7	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	10935	PRDX3	OMIM:619862
HP:0002071	Abnormality of extrapyramidal motor function	51271	UBAP1	OMIM:618418
HP:0002071	Abnormality of extrapyramidal motor function	7345	UCHL1	OMIM:613643
HP:0002071	Abnormality of extrapyramidal motor function	7345	UCHL1	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	27429	HTRA2	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	27429	HTRA2	OMIM:610297
HP:0002071	Abnormality of extrapyramidal motor function	5420	PODXL	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	5420	PODXL	ORPHA:391411
HP:0002071	Abnormality of extrapyramidal motor function	112755	STX1B	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	2563	GABRD	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	348980	HCN1	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	84059	ADGRV1	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	1213	CLTC	OMIM:617854
HP:0002071	Abnormality of extrapyramidal motor function	54902	TTC19	OMIM:615157
HP:0002071	Abnormality of extrapyramidal motor function	3748	KCNC3	ORPHA:98768
HP:0002071	Abnormality of extrapyramidal motor function	6872	TAF1	ORPHA:53351
HP:0002071	Abnormality of extrapyramidal motor function	6697	SPR	ORPHA:70594
HP:0002071	Abnormality of extrapyramidal motor function	724066	ATXN8	ORPHA:98760
HP:0002071	Abnormality of extrapyramidal motor function	2258	FGF13	OMIM:301095
HP:0002071	Abnormality of extrapyramidal motor function	10667	FARS2	ORPHA:466722
HP:0002071	Abnormality of extrapyramidal motor function	6310	ATXN1	ORPHA:98755
HP:0002071	Abnormality of extrapyramidal motor function	84833	ATP5MK	OMIM:618683
HP:0002071	Abnormality of extrapyramidal motor function	84665	MYPN	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	58	ACTA1	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	7169	TPM2	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	390594	KBTBD13	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	4703	NEB	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	10324	KLHL41	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	7170	TPM3	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	124454	EARS2	OMIM:614924
HP:0002071	Abnormality of extrapyramidal motor function	51142	CHCHD2	OMIM:616710
HP:0002071	Abnormality of extrapyramidal motor function	55367	PIDD1	OMIM:619827
HP:0002071	Abnormality of extrapyramidal motor function	5274	SERPINI1	OMIM:604218
HP:0002071	Abnormality of extrapyramidal motor function	374291	NDUFS7	OMIM:618224
HP:0002071	Abnormality of extrapyramidal motor function	23345	SYNE1	OMIM:610743
HP:0002071	Abnormality of extrapyramidal motor function	5354	PLP1	ORPHA:99015
HP:0002071	Abnormality of extrapyramidal motor function	5354	PLP1	ORPHA:280219
HP:0002071	Abnormality of extrapyramidal motor function	79868	ALG13	OMIM:300884
HP:0002071	Abnormality of extrapyramidal motor function	51601	LIPT1	OMIM:616299
HP:0002071	Abnormality of extrapyramidal motor function	8722	CTSF	OMIM:615362
HP:0002071	Abnormality of extrapyramidal motor function	57465	TBC1D24	ORPHA:352596
HP:0002071	Abnormality of extrapyramidal motor function	57465	TBC1D24	OMIM:615338
HP:0002071	Abnormality of extrapyramidal motor function	54982	CLN6	OMIM:204300
HP:0002071	Abnormality of extrapyramidal motor function	6314	ATXN7	OMIM:164500
HP:0002071	Abnormality of extrapyramidal motor function	79944	L2HGDH	OMIM:236792
HP:0002071	Abnormality of extrapyramidal motor function	79944	L2HGDH	ORPHA:79314
HP:0002071	Abnormality of extrapyramidal motor function	23474	ETHE1	ORPHA:51188
HP:0002071	Abnormality of extrapyramidal motor function	23474	ETHE1	OMIM:602473
HP:0002071	Abnormality of extrapyramidal motor function	727676	SNORD118	OMIM:614561
HP:0002071	Abnormality of extrapyramidal motor function	128989	TANGO2	ORPHA:480864
HP:0002071	Abnormality of extrapyramidal motor function	2632	GBE1	ORPHA:206583
HP:0002071	Abnormality of extrapyramidal motor function	51324	SPG21	ORPHA:101001
HP:0002071	Abnormality of extrapyramidal motor function	388962	BOLA3	OMIM:614299
HP:0002071	Abnormality of extrapyramidal motor function	84947	SERAC1	OMIM:614739
HP:0002071	Abnormality of extrapyramidal motor function	3251	HPRT1	ORPHA:79233
HP:0002071	Abnormality of extrapyramidal motor function	3251	HPRT1	OMIM:300322
HP:0002071	Abnormality of extrapyramidal motor function	27089	UQCRQ	OMIM:615159
HP:0002071	Abnormality of extrapyramidal motor function	6804	STX1A	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	7461	CLIP2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	84277	DNAJC30	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	8468	FKBP6	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	5982	RFC2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	2969	GTF2I	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	3984	LIMK1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	9569	GTF2IRD1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	155382	VPS37D	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	155368	METTL27	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	114049	BUD23	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	7458	EIF4H	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	84163	GTF2IRD2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	9275	BCL7B	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	26608	TBL2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	653361	NCF1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	135886	TMEM270	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	51085	MLXIPL	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	9031	BAZ1B	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	2006	ELN	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	492	ATP2B3	OMIM:302500
HP:0002071	Abnormality of extrapyramidal motor function	219285	SAMD9L	OMIM:619806
HP:0002071	Abnormality of extrapyramidal motor function	8314	BAP1	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4286	MITF	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1019	CDK4	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4255	MGMT	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	54386	TERF2IP	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4157	MC1R	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	65057	ACD	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1029	CDKN2A	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	7015	TERT	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	25913	POT1	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1030	CDKN2B	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	9562	MINPP1	OMIM:619527
HP:0002071	Abnormality of extrapyramidal motor function	5654	HTRA1	OMIM:600142
HP:0002071	Abnormality of extrapyramidal motor function	6567	SLC16A2	ORPHA:59
HP:0002071	Abnormality of extrapyramidal motor function	27247	NFU1	OMIM:605711
HP:0002071	Abnormality of extrapyramidal motor function	80067	DCAF17	OMIM:241080
HP:0002071	Abnormality of extrapyramidal motor function	23503	ZFYVE26	ORPHA:100996
HP:0002071	Abnormality of extrapyramidal motor function	80169	CTC1	OMIM:612199
HP:0002071	Abnormality of extrapyramidal motor function	4668	NAGA	ORPHA:79279
HP:0002071	Abnormality of extrapyramidal motor function	25974	MMACHC	OMIM:277400
HP:0002071	Abnormality of extrapyramidal motor function	5052	PRDX1	OMIM:277400
HP:0002071	Abnormality of extrapyramidal motor function	2068	ERCC2	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	7507	XPA	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2071	ERCC3	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	7508	XPC	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	1643	DDB2	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2072	ERCC4	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2073	ERCC5	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	23769	FLRT1	ORPHA:320406
HP:0002071	Abnormality of extrapyramidal motor function	64837	KLC2	ORPHA:320406
HP:0002071	Abnormality of extrapyramidal motor function	64837	KLC2	OMIM:609541
HP:0002071	Abnormality of extrapyramidal motor function	3074	HEXB	ORPHA:309155
HP:0002071	Abnormality of extrapyramidal motor function	3074	HEXB	OMIM:268800
HP:0002071	Abnormality of extrapyramidal motor function	22906	TRAK1	OMIM:618201
HP:0002071	Abnormality of extrapyramidal motor function	10588	MTHFS	OMIM:618367
HP:0002071	Abnormality of extrapyramidal motor function	440	ASNS	OMIM:615574
HP:0002071	Abnormality of extrapyramidal motor function	51501	HIKESHI	OMIM:616881
HP:0002071	Abnormality of extrapyramidal motor function	23229	ARHGEF9	ORPHA:163985
HP:0002071	Abnormality of extrapyramidal motor function	23229	ARHGEF9	OMIM:300607
HP:0002071	Abnormality of extrapyramidal motor function	2218	FKTN	OMIM:253800
HP:0002071	Abnormality of extrapyramidal motor function	3073	HEXA	OMIM:272800
HP:0002071	Abnormality of extrapyramidal motor function	23258	DENND5A	OMIM:617281
HP:0002071	Abnormality of extrapyramidal motor function	7259	TSPYL1	OMIM:608800
HP:0002071	Abnormality of extrapyramidal motor function	2760	GM2A	ORPHA:309246
HP:0002071	Abnormality of extrapyramidal motor function	2760	GM2A	OMIM:272750
HP:0002071	Abnormality of extrapyramidal motor function	7750	ZMYM2	OMIM:619522
HP:0002071	Abnormality of extrapyramidal motor function	6647	SOD1	OMIM:618598
HP:0002071	Abnormality of extrapyramidal motor function	6536	SLC6A9	OMIM:617301
HP:0002071	Abnormality of extrapyramidal motor function	221927	BRAT1	OMIM:618056
HP:0002071	Abnormality of extrapyramidal motor function	5813	PURA	ORPHA:438216
HP:0002071	Abnormality of extrapyramidal motor function	2893	GRIA4	OMIM:617864
HP:0002071	Abnormality of extrapyramidal motor function	23043	TNIK	OMIM:617028
HP:0002071	Abnormality of extrapyramidal motor function	2741	GLRA1	OMIM:149400
HP:0002071	Abnormality of extrapyramidal motor function	10243	GPHN	OMIM:149400
HP:0002071	Abnormality of extrapyramidal motor function	9373	PLAA	ORPHA:521426
HP:0002071	Abnormality of extrapyramidal motor function	9373	PLAA	OMIM:617527
HP:0002071	Abnormality of extrapyramidal motor function	1644	DDC	OMIM:608643
HP:0002071	Abnormality of extrapyramidal motor function	9152	SLC6A5	OMIM:614618
HP:0002071	Abnormality of extrapyramidal motor function	8911	CACNA1I	OMIM:620114
HP:0002071	Abnormality of extrapyramidal motor function	2720	GLB1	ORPHA:79255
HP:0002071	Abnormality of extrapyramidal motor function	2743	GLRB	OMIM:614619
HP:0002071	Abnormality of extrapyramidal motor function	5660	PSAP	OMIM:619491
HP:0002071	Abnormality of extrapyramidal motor function	540	ATP7B	OMIM:277900
HP:0002071	Abnormality of extrapyramidal motor function	10535	RNASEH2A	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	84153	RNASEH2C	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	25939	SAMHD1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	79621	RNASEH2B	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	103	ADAR	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	11277	TREX1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	100147744	RNU7-1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	134353	LSM11	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	64135	IFIH1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	80207	OPA3	ORPHA:67036
HP:0002071	Abnormality of extrapyramidal motor function	3119	HLA-DQB1	OMIM:123400
HP:0002071	Abnormality of extrapyramidal motor function	9640	ZNF592	ORPHA:83472
HP:0002071	Abnormality of extrapyramidal motor function	84942	WDR73	ORPHA:83472
HP:0002071	Abnormality of extrapyramidal motor function	10367	MICU1	ORPHA:401768
HP:0002071	Abnormality of extrapyramidal motor function	2593	GAMT	ORPHA:382
HP:0002071	Abnormality of extrapyramidal motor function	2593	GAMT	OMIM:612736
HP:0002071	Abnormality of extrapyramidal motor function	79152	FA2H	ORPHA:329308
HP:0002071	Abnormality of extrapyramidal motor function	81570	CLPB	ORPHA:445038
HP:0002071	Abnormality of extrapyramidal motor function	5917	RARS1	ORPHA:438114
HP:0002071	Abnormality of extrapyramidal motor function	38	ACAT1	ORPHA:134
HP:0002071	Abnormality of extrapyramidal motor function	80746	TSEN2	OMIM:612389
HP:0002071	Abnormality of extrapyramidal motor function	283989	TSEN54	OMIM:277470
HP:0002071	Abnormality of extrapyramidal motor function	1807	DPYS	OMIM:222748
HP:0002071	Abnormality of extrapyramidal motor function	203228	C9orf72	OMIM:105550
HP:0002071	Abnormality of extrapyramidal motor function	6513	SLC2A1	ORPHA:71277
HP:0002071	Abnormality of extrapyramidal motor function	816	CAMK2B	OMIM:617799
HP:0002071	Abnormality of extrapyramidal motor function	6857	SYT1	OMIM:618218
HP:0002071	Abnormality of extrapyramidal motor function	6857	SYT1	ORPHA:522077
HP:0002071	Abnormality of extrapyramidal motor function	8241	RBM10	ORPHA:2886
HP:0002072	Chorea	4594	MMUT	ORPHA:289916
HP:0002072	Chorea	4594	MMUT	ORPHA:79312
HP:0002072	Chorea	26235	FBXL4	OMIM:615471
HP:0002072	Chorea	6513	SLC2A1	OMIM:612126
HP:0002072	Chorea	6513	SLC2A1	OMIM:601042
HP:0002072	Chorea	6513	SLC2A1	ORPHA:98811
HP:0002072	Chorea	6513	SLC2A1	OMIM:606777
HP:0002072	Chorea	6513	SLC2A1	ORPHA:53583
HP:0002072	Chorea	6513	SLC2A1	ORPHA:71277
HP:0002072	Chorea	478	ATP1A3	OMIM:614820
HP:0002072	Chorea	478	ATP1A3	ORPHA:2131
HP:0002072	Chorea	6323	SCN1A	OMIM:619317
HP:0002072	Chorea	1119	CHKA	OMIM:620023
HP:0002072	Chorea	170302	ARX	OMIM:308350
HP:0002072	Chorea	170302	ARX	ORPHA:1934
HP:0002072	Chorea	81570	CLPB	ORPHA:445038
HP:0002072	Chorea	81570	CLPB	OMIM:616271
HP:0002072	Chorea	57165	GJC2	OMIM:608804
HP:0002072	Chorea	1822	ATN1	OMIM:125370
HP:0002072	Chorea	1822	ATN1	ORPHA:101
HP:0002072	Chorea	65993	MRPS34	OMIM:617664
HP:0002072	Chorea	80207	OPA3	ORPHA:67047
HP:0002072	Chorea	125988	MICOS13	ORPHA:67047
HP:0002072	Chorea	5160	PDHA1	OMIM:312170
HP:0002072	Chorea	472	ATM	OMIM:208900
HP:0002072	Chorea	79133	NDUFAF5	OMIM:618238
HP:0002072	Chorea	5610	EIF2AK2	OMIM:618877
HP:0002072	Chorea	84520	GON7	OMIM:619603
HP:0002072	Chorea	1644	DDC	OMIM:608643
HP:0002072	Chorea	3736	KCNA1	ORPHA:37612
HP:0002072	Chorea	3736	KCNA1	ORPHA:1934
HP:0002072	Chorea	8869	ST3GAL5	OMIM:609056
HP:0002072	Chorea	87178	PNPT1	ORPHA:319514
HP:0002072	Chorea	87178	PNPT1	OMIM:614932
HP:0002072	Chorea	4694	NDUFA1	OMIM:301020
HP:0002072	Chorea	55250	ELP2	OMIM:617270
HP:0002072	Chorea	4204	MECP2	OMIM:300055
HP:0002072	Chorea	4704	NDUFA9	OMIM:618247
HP:0002072	Chorea	116228	COX20	OMIM:619054
HP:0002072	Chorea	23732	FRRS1L	OMIM:616981
HP:0002072	Chorea	64207	IRF2BPL	OMIM:618088
HP:0002072	Chorea	3054	HCFC1	OMIM:309541
HP:0002072	Chorea	51079	NDUFA13	OMIM:618249
HP:0002072	Chorea	7920	ABHD16A	OMIM:619735
HP:0002072	Chorea	114034	TOE1	OMIM:614969
HP:0002072	Chorea	2074	ERCC6	OMIM:278800
HP:0002072	Chorea	5428	POLG	ORPHA:726
HP:0002072	Chorea	7080	NKX2-1	ORPHA:209905
HP:0002072	Chorea	7080	NKX2-1	OMIM:610978
HP:0002072	Chorea	4361	MRE11	OMIM:604391
HP:0002072	Chorea	6821	SUOX	OMIM:272300
HP:0002072	Chorea	5805	PTS	ORPHA:13
HP:0002072	Chorea	5805	PTS	OMIM:261640
HP:0002072	Chorea	2898	GRIK2	OMIM:619580
HP:0002072	Chorea	10715	CERS1	OMIM:616230
HP:0002072	Chorea	774	CACNA1B	OMIM:618497
HP:0002072	Chorea	8802	SUCLG1	ORPHA:17
HP:0002072	Chorea	54664	TMEM106B	OMIM:617964
HP:0002072	Chorea	284439	SLC25A42	OMIM:618416
HP:0002072	Chorea	10382	TUBB4A	OMIM:612438
HP:0002072	Chorea	112476	PRRT2	ORPHA:98811
HP:0002072	Chorea	112476	PRRT2	ORPHA:98810
HP:0002072	Chorea	112476	PRRT2	ORPHA:31709
HP:0002072	Chorea	6697	SPR	OMIM:612716
HP:0002072	Chorea	25953	PNKD	ORPHA:98810
HP:0002072	Chorea	3028	HSD17B10	ORPHA:391428
HP:0002072	Chorea	3028	HSD17B10	OMIM:300438
HP:0002072	Chorea	2512	FTL	OMIM:606159
HP:0002072	Chorea	10367	MICU1	OMIM:615673
HP:0002072	Chorea	6812	STXBP1	OMIM:612164
HP:0002072	Chorea	23533	PIK3R5	ORPHA:64753
HP:0002072	Chorea	23064	SETX	ORPHA:64753
HP:0002072	Chorea	92609	TIMM50	OMIM:617698
HP:0002072	Chorea	2643	GCH1	OMIM:233910
HP:0002072	Chorea	773	CACNA1A	ORPHA:2131
HP:0002072	Chorea	6507	SLC1A3	ORPHA:2131
HP:0002072	Chorea	477	ATP1A2	ORPHA:2131
HP:0002072	Chorea	477	ATP1A2	OMIM:104290
HP:0002072	Chorea	80036	TRPM3	OMIM:620224
HP:0002072	Chorea	80067	DCAF17	ORPHA:3464
HP:0002072	Chorea	80067	DCAF17	OMIM:241080
HP:0002072	Chorea	80025	PANK2	OMIM:234200
HP:0002072	Chorea	7507	XPA	OMIM:278700
HP:0002072	Chorea	111	ADCY5	OMIM:606703
HP:0002072	Chorea	1737	DLAT	OMIM:245348
HP:0002072	Chorea	3251	HPRT1	OMIM:300322
HP:0002072	Chorea	5138	PDE2A	ORPHA:31709
HP:0002072	Chorea	6334	SCN8A	ORPHA:31709
HP:0002072	Chorea	60558	GUF1	OMIM:617065
HP:0002072	Chorea	6857	SYT1	ORPHA:522077
HP:0002072	Chorea	6857	SYT1	OMIM:618218
HP:0002072	Chorea	2566	GABRG2	OMIM:618396
HP:0002072	Chorea	283989	TSEN54	ORPHA:2524
HP:0002072	Chorea	116461	TSEN15	ORPHA:2524
HP:0002072	Chorea	79042	TSEN34	ORPHA:2524
HP:0002072	Chorea	80746	TSEN2	ORPHA:2524
HP:0002072	Chorea	51091	SEPSECS	ORPHA:2524
HP:0002072	Chorea	9213	XPR1	OMIM:616413
HP:0002072	Chorea	54676	GTPBP2	OMIM:617988
HP:0002072	Chorea	23556	PIGN	OMIM:614080
HP:0002072	Chorea	4508	MT-ATP6	ORPHA:225154
HP:0002072	Chorea	23636	NUP62	ORPHA:225154
HP:0002072	Chorea	23636	NUP62	OMIM:271930
HP:0002072	Chorea	103	ADAR	ORPHA:225154
HP:0002072	Chorea	5354	PLP1	OMIM:312080
HP:0002072	Chorea	7143	TNR	OMIM:619653
HP:0002072	Chorea	10463	SLC30A9	OMIM:617595
HP:0002072	Chorea	5455	POU3F3	OMIM:618604
HP:0002072	Chorea	133686	NADK2	ORPHA:431361
HP:0002072	Chorea	133686	NADK2	OMIM:616034
HP:0002072	Chorea	23219	FBXO28	OMIM:619777
HP:0002072	Chorea	9439	MED23	OMIM:614249
HP:0002072	Chorea	256472	TMEM151A	OMIM:620245
HP:0002072	Chorea	57731	SPTBN4	OMIM:617519
HP:0002072	Chorea	2778	GNAS	ORPHA:79443
HP:0002072	Chorea	2639	GCDH	OMIM:231670
HP:0002072	Chorea	6567	SLC16A2	ORPHA:59
HP:0002072	Chorea	25970	SH2B1	ORPHA:261197
HP:0002072	Chorea	5860	QDPR	OMIM:261630
HP:0002072	Chorea	10533	ATG7	OMIM:619422
HP:0002072	Chorea	3658	IREB2	OMIM:618451
HP:0002072	Chorea	3329	HSPD1	OMIM:612233
HP:0002072	Chorea	284111	SLC13A5	OMIM:615905
HP:0002072	Chorea	8905	AP1S2	OMIM:304340
HP:0002072	Chorea	6792	CDKL5	ORPHA:1934
HP:0002072	Chorea	9091	PIGQ	ORPHA:1934
HP:0002072	Chorea	2775	GNAO1	ORPHA:1934
HP:0002072	Chorea	81603	TRIM8	ORPHA:1934
HP:0002072	Chorea	2902	GRIN1	ORPHA:1934
HP:0002072	Chorea	79751	SLC25A22	ORPHA:1934
HP:0002072	Chorea	150094	SIK1	ORPHA:1934
HP:0002072	Chorea	8573	CASK	ORPHA:1934
HP:0002072	Chorea	23312	DMXL2	ORPHA:1934
HP:0002072	Chorea	2917	GRM7	ORPHA:1934
HP:0002072	Chorea	11284	PNKP	ORPHA:1934
HP:0002072	Chorea	6326	SCN2A	ORPHA:1934
HP:0002072	Chorea	51227	PIGP	ORPHA:1934
HP:0002072	Chorea	6324	SCN1B	ORPHA:1934
HP:0002072	Chorea	4761	NEUROD2	ORPHA:1934
HP:0002072	Chorea	2068	ERCC2	OMIM:278730
HP:0002072	Chorea	10749	KIF1C	ORPHA:397946
HP:0002072	Chorea	5621	PRNP	ORPHA:282166
HP:0002072	Chorea	5621	PRNP	OMIM:603218
HP:0002072	Chorea	5621	PRNP	ORPHA:157941
HP:0002072	Chorea	3064	HTT	ORPHA:399
HP:0002072	Chorea	3064	HTT	OMIM:143100
HP:0002072	Chorea	3064	HTT	ORPHA:248111
HP:0002072	Chorea	6515	SLC2A3	ORPHA:399
HP:0002072	Chorea	27183	VPS4A	OMIM:619273
HP:0002072	Chorea	1173	AP2M1	OMIM:618587
HP:0002072	Chorea	51102	MECR	ORPHA:508093
HP:0002072	Chorea	51102	MECR	OMIM:617282
HP:0002072	Chorea	56896	DPYSL5	OMIM:619435
HP:0002072	Chorea	9698	PUM1	OMIM:617931
HP:0002072	Chorea	1356	CP	OMIM:604290
HP:0002072	Chorea	1356	CP	ORPHA:48818
HP:0002072	Chorea	60684	TRAPPC11	OMIM:615356
HP:0002072	Chorea	60684	TRAPPC11	ORPHA:369840
HP:0002072	Chorea	60684	TRAPPC11	ORPHA:369847
HP:0002072	Chorea	2290	FOXG1	OMIM:613454
HP:0002072	Chorea	2904	GRIN2B	OMIM:613970
HP:0002072	Chorea	2904	GRIN2B	OMIM:616139
HP:0002072	Chorea	9254	CACNA2D2	OMIM:618501
HP:0002072	Chorea	781	CACNA2D1	OMIM:620149
HP:0002072	Chorea	5309	PITX3	OMIM:610623
HP:0002072	Chorea	51816	ADA2	ORPHA:820
HP:0002072	Chorea	132158	GLYCTK	ORPHA:941
HP:0002072	Chorea	8291	DYSF	ORPHA:268
HP:0002072	Chorea	4535	MT-ND1	ORPHA:255210
HP:0002072	Chorea	4536	MT-ND2	ORPHA:255210
HP:0002072	Chorea	4537	MT-ND3	ORPHA:255210
HP:0002072	Chorea	4538	MT-ND4	ORPHA:255210
HP:0002072	Chorea	4567	MT-TL1	ORPHA:255210
HP:0002072	Chorea	4578	MT-TW	ORPHA:255210
HP:0002072	Chorea	4577	MT-TV	ORPHA:255210
HP:0002072	Chorea	4540	MT-ND5	ORPHA:255210
HP:0002072	Chorea	4541	MT-ND6	ORPHA:255210
HP:0002072	Chorea	4566	MT-TK	ORPHA:255210
HP:0002072	Chorea	9150	CTDP1	OMIM:604168
HP:0002072	Chorea	2593	GAMT	ORPHA:382
HP:0002072	Chorea	6531	SLC6A3	ORPHA:238455
HP:0002072	Chorea	6531	SLC6A3	OMIM:613135
HP:0002072	Chorea	6535	SLC6A8	ORPHA:52503
HP:0002072	Chorea	5155	PDGFB	OMIM:615483
HP:0002072	Chorea	5155	PDGFB	OMIM:213600
HP:0002072	Chorea	16	AARS1	OMIM:616339
HP:0002072	Chorea	54476	RNF216	OMIM:212840
HP:0002072	Chorea	3781	KCNN2	OMIM:619725
HP:0002072	Chorea	4884	NPTX1	OMIM:620158
HP:0002072	Chorea	55768	NGLY1	ORPHA:404454
HP:0002072	Chorea	55768	NGLY1	OMIM:615273
HP:0002072	Chorea	2891	GRIA2	OMIM:618917
HP:0002072	Chorea	6314	ATXN7	OMIM:164500
HP:0002072	Chorea	3778	KCNMA1	ORPHA:79137
HP:0002072	Chorea	410	ARSA	ORPHA:309271
HP:0002072	Chorea	410	ARSA	OMIM:250100
HP:0002072	Chorea	5660	PSAP	ORPHA:309271
HP:0002072	Chorea	23221	RHOBTB2	OMIM:618004
HP:0002072	Chorea	7343	UBTF	OMIM:617672
HP:0002072	Chorea	7343	UBTF	ORPHA:500180
HP:0002072	Chorea	6844	VAMP2	OMIM:618760
HP:0002072	Chorea	7128	TNFAIP3	OMIM:616744
HP:0002072	Chorea	5119	CHMP1A	OMIM:614961
HP:0002072	Chorea	10352	WARS2	OMIM:619738
HP:0002072	Chorea	1183	CLCN4	ORPHA:485350
HP:0002072	Chorea	6575	SLC20A2	OMIM:213600
HP:0002072	Chorea	5159	PDGFRB	OMIM:213600
HP:0002072	Chorea	10273	STUB1	OMIM:618093
HP:0002072	Chorea	538	ATP7A	ORPHA:565
HP:0002072	Chorea	39	ACAT2	OMIM:614055
HP:0002072	Chorea	23152	CIC	OMIM:617600
HP:0002072	Chorea	23230	VPS13A	ORPHA:2388
HP:0002072	Chorea	54840	APTX	OMIM:208920
HP:0002072	Chorea	57338	JPH3	ORPHA:98934
HP:0002072	Chorea	57338	JPH3	OMIM:606438
HP:0002072	Chorea	2395	FXN	ORPHA:95
HP:0002072	Chorea	6908	TBP	OMIM:607136
HP:0002072	Chorea	6908	TBP	ORPHA:98759
HP:0002072	Chorea	54	ACP5	ORPHA:1855
HP:0002072	Chorea	10846	PDE10A	ORPHA:494526
HP:0002072	Chorea	10846	PDE10A	OMIM:616922
HP:0002072	Chorea	10846	PDE10A	OMIM:616921
HP:0002072	Chorea	10846	PDE10A	ORPHA:494541
HP:0002072	Chorea	7701	ZNF142	OMIM:618425
HP:0002072	Chorea	7305	TYROBP	ORPHA:2770
HP:0002072	Chorea	54209	TREM2	ORPHA:2770
HP:0002072	Chorea	80704	SLC19A3	OMIM:607483
HP:0002072	Chorea	8405	SPOP	OMIM:618829
HP:0002072	Chorea	6872	TAF1	ORPHA:53351
HP:0002072	Chorea	6872	TAF1	OMIM:314250
HP:0002072	Chorea	10128	LRPPRC	ORPHA:70472
HP:0002072	Chorea	51284	TLR7	OMIM:301080
HP:0002072	Chorea	25915	NDUFAF3	ORPHA:70474
HP:0002072	Chorea	4714	NDUFB8	ORPHA:70474
HP:0002072	Chorea	4720	NDUFS2	ORPHA:70474
HP:0002072	Chorea	9997	SCO2	ORPHA:70474
HP:0002072	Chorea	6834	SURF1	ORPHA:70474
HP:0002072	Chorea	5700	PSMC1	OMIM:620071
HP:0002072	Chorea	2521	FUS	ORPHA:300605
HP:0002072	Chorea	80208	SPG11	ORPHA:300605
HP:0002072	Chorea	10280	SIGMAR1	ORPHA:300605
HP:0002072	Chorea	10558	SPTLC1	ORPHA:300605
HP:0002072	Chorea	57679	ALS2	ORPHA:300605
HP:0002072	Chorea	7504	XK	OMIM:300842
HP:0002072	Chorea	2760	GM2A	ORPHA:309246
HP:0002072	Chorea	2760	GM2A	OMIM:272750
HP:0002072	Chorea	7358	UGDH	OMIM:618792
HP:0002072	Chorea	2893	GRIA4	OMIM:617864
HP:0002072	Chorea	2555	GABRA2	OMIM:618557
HP:0002072	Chorea	55164	SHQ1	OMIM:619922
HP:0002072	Chorea	57462	MYORG	OMIM:618317
HP:0002072	Chorea	54112	GPR88	OMIM:616939
HP:0002072	Chorea	6311	ATXN2	ORPHA:98756
HP:0002072	Chorea	6310	ATXN1	ORPHA:98755
HP:0002072	Chorea	6310	ATXN1	OMIM:164400
HP:0002072	Chorea	55739	NAXD	OMIM:618321
HP:0002072	Chorea	3798	KIF5A	OMIM:617235
HP:0002072	Chorea	84833	ATP5MK	OMIM:618683
HP:0002072	Chorea	29960	MRM2	OMIM:618567
HP:0002072	Chorea	79587	CARS2	OMIM:616672
HP:0002072	Chorea	22907	DHX30	OMIM:617804
HP:0002072	Chorea	8398	PLA2G6	OMIM:610217
HP:0002073	Progressive cerebellar ataxia	5621	PRNP	ORPHA:282166
HP:0002073	Progressive cerebellar ataxia	339453	TMEM240	ORPHA:98773
HP:0002073	Progressive cerebellar ataxia	339453	TMEM240	OMIM:607454
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	OMIM:183086
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	OMIM:108500
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	ORPHA:98758
HP:0002073	Progressive cerebellar ataxia	87178	PNPT1	ORPHA:101111
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	OMIM:109150
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276244
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276241
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276238
HP:0002073	Progressive cerebellar ataxia	1938	EEF2	ORPHA:101112
HP:0002073	Progressive cerebellar ataxia	1183	CLCN4	OMIM:300114
HP:0002073	Progressive cerebellar ataxia	1183	CLCN4	ORPHA:485350
HP:0002073	Progressive cerebellar ataxia	56978	PRDM8	OMIM:616640
HP:0002073	Progressive cerebellar ataxia	23446	SLC44A1	OMIM:618868
HP:0002073	Progressive cerebellar ataxia	57704	GBA2	ORPHA:352641
HP:0002073	Progressive cerebellar ataxia	27235	COQ2	ORPHA:227510
HP:0002073	Progressive cerebellar ataxia	27235	COQ2	ORPHA:98933
HP:0002073	Progressive cerebellar ataxia	146057	TTBK2	ORPHA:98767
HP:0002073	Progressive cerebellar ataxia	146057	TTBK2	OMIM:604432
HP:0002073	Progressive cerebellar ataxia	92935	MARS2	ORPHA:314603
HP:0002073	Progressive cerebellar ataxia	2521	FUS	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	8878	SQSTM1	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	7415	VCP	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	23435	TARDBP	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	29110	TBK1	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	400916	CHCHD10	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	5582	PRKCG	ORPHA:98763
HP:0002073	Progressive cerebellar ataxia	5582	PRKCG	OMIM:605361
HP:0002073	Progressive cerebellar ataxia	6712	SPTBN2	ORPHA:352403
HP:0002073	Progressive cerebellar ataxia	5521	PPP2R2B	OMIM:604326
HP:0002073	Progressive cerebellar ataxia	154881	KCTD7	ORPHA:263516
HP:0002073	Progressive cerebellar ataxia	1822	ATN1	ORPHA:101
HP:0002073	Progressive cerebellar ataxia	25814	ATXN10	ORPHA:98761
HP:0002073	Progressive cerebellar ataxia	25814	ATXN10	OMIM:603516
HP:0002073	Progressive cerebellar ataxia	4311	MME	ORPHA:497764
HP:0002073	Progressive cerebellar ataxia	724066	ATXN8	OMIM:608768
HP:0002073	Progressive cerebellar ataxia	6315	ATXN8OS	OMIM:608768
HP:0002073	Progressive cerebellar ataxia	3748	KCNC3	OMIM:605259
HP:0002073	Progressive cerebellar ataxia	549	AUH	ORPHA:67046
HP:0002073	Progressive cerebellar ataxia	6311	ATXN2	OMIM:183090
HP:0002073	Progressive cerebellar ataxia	6311	ATXN2	ORPHA:98756
HP:0002073	Progressive cerebellar ataxia	5173	PDYN	ORPHA:101108
HP:0002073	Progressive cerebellar ataxia	56997	COQ8A	ORPHA:139485
HP:0002073	Progressive cerebellar ataxia	472	ATM	OMIM:208900
HP:0002073	Progressive cerebellar ataxia	7274	TTPA	OMIM:277460
HP:0002073	Progressive cerebellar ataxia	6785	ELOVL4	ORPHA:1955
HP:0002073	Progressive cerebellar ataxia	6314	ATXN7	OMIM:164500
HP:0002073	Progressive cerebellar ataxia	10166	SLC25A15	ORPHA:415
HP:0002073	Progressive cerebellar ataxia	6310	ATXN1	ORPHA:98755
HP:0002073	Progressive cerebellar ataxia	6310	ATXN1	OMIM:164400
HP:0002073	Progressive cerebellar ataxia	1200	TPP1	ORPHA:284324
HP:0002073	Progressive cerebellar ataxia	6389	SDHA	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	80704	SLC19A3	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	91942	NDUFAF2	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	6834	SURF1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4723	NDUFV1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	55572	FOXRED1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4729	NDUFV2	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	55967	NDUFA12	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	51204	TACO1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4720	NDUFS2	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4724	NDUFS4	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4728	NDUFS8	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	137682	NDUFAF6	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4722	NDUFS3	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	79133	NDUFAF5	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	5160	PDHA1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	100131801	PET100	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	1355	COX15	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	1892	ECHS1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	123263	MTFMT	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	51079	NDUFA13	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	374291	NDUFS7	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4705	NDUFA10	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	51601	LIPT1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4719	NDUFS1	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4695	NDUFA2	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4697	NDUFA4	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	4704	NDUFA9	ORPHA:255241
HP:0002073	Progressive cerebellar ataxia	55129	ANO10	ORPHA:284289
HP:0002073	Progressive cerebellar ataxia	5981	RFC1	ORPHA:504476
HP:0002073	Progressive cerebellar ataxia	3064	HTT	ORPHA:248111
HP:0002073	Progressive cerebellar ataxia	22943	DKK1	ORPHA:268882
HP:0002073	Progressive cerebellar ataxia	23545	ATP6V0A2	ORPHA:2834
HP:0002073	Progressive cerebellar ataxia	55157	DARS2	ORPHA:137898
HP:0002073	Progressive cerebellar ataxia	5190	PEX6	ORPHA:95433
HP:0002073	Progressive cerebellar ataxia	3752	KCND3	OMIM:607346
HP:0002073	Progressive cerebellar ataxia	4556	MT-TE	ORPHA:2596
HP:0002073	Progressive cerebellar ataxia	57410	SCYL1	ORPHA:466794
HP:0002073	Progressive cerebellar ataxia	55187	VPS13D	ORPHA:95434
HP:0002073	Progressive cerebellar ataxia	27072	VPS41	ORPHA:95434
HP:0002073	Progressive cerebellar ataxia	343641	TGM6	ORPHA:276193
HP:0002073	Progressive cerebellar ataxia	55149	MTPAP	ORPHA:254343
HP:0002073	Progressive cerebellar ataxia	23400	ATP13A2	ORPHA:513436
HP:0002073	Progressive cerebellar ataxia	26278	SACS	ORPHA:98
HP:0002073	Progressive cerebellar ataxia	7466	WFS1	ORPHA:411590
HP:0002073	Progressive cerebellar ataxia	2744	GLS	OMIM:618412
HP:0002073	Progressive cerebellar ataxia	4598	MVK	OMIM:610377
HP:0002073	Progressive cerebellar ataxia	2705	GJB1	ORPHA:1175
HP:0002073	Progressive cerebellar ataxia	55154	MSTO1	ORPHA:502423
HP:0002073	Progressive cerebellar ataxia	5192	PEX10	ORPHA:247815
HP:0002074	Increased neuronal autofluorescent lipopigment	5538	PPT1	OMIM:256730
HP:0002074	Increased neuronal autofluorescent lipopigment	1203	CLN5	OMIM:256731
HP:0002074	Increased neuronal autofluorescent lipopigment	1201	CLN3	OMIM:204200
HP:0002074	Increased neuronal autofluorescent lipopigment	2055	CLN8	OMIM:600143
HP:0002074	Increased neuronal autofluorescent lipopigment	2055	CLN8	OMIM:610003
HP:0002074	Increased neuronal autofluorescent lipopigment	54982	CLN6	OMIM:204300
HP:0002074	Increased neuronal autofluorescent lipopigment	54982	CLN6	OMIM:601780
HP:0002074	Increased neuronal autofluorescent lipopigment	1200	TPP1	OMIM:204500
HP:0002074	Increased neuronal autofluorescent lipopigment	80331	DNAJC5	OMIM:162350
HP:0002074	Increased neuronal autofluorescent lipopigment	1509	CTSD	OMIM:610127
HP:0002075	Dysdiadochokinesis	1203	CLN5	ORPHA:228360
HP:0002075	Dysdiadochokinesis	1203	CLN5	OMIM:256731
HP:0002075	Dysdiadochokinesis	2643	GCH1	OMIM:128230
HP:0002075	Dysdiadochokinesis	8622	PDE8B	ORPHA:228169
HP:0002075	Dysdiadochokinesis	8622	PDE8B	OMIM:609161
HP:0002075	Dysdiadochokinesis	55703	POLR3B	OMIM:614381
HP:0002075	Dysdiadochokinesis	2911	GRM1	OMIM:617691
HP:0002075	Dysdiadochokinesis	2911	GRM1	OMIM:614831
HP:0002075	Dysdiadochokinesis	2911	GRM1	ORPHA:324262
HP:0002075	Dysdiadochokinesis	55532	SLC30A10	ORPHA:309854
HP:0002075	Dysdiadochokinesis	124997	WDR81	OMIM:610185
HP:0002075	Dysdiadochokinesis	2895	GRID2	OMIM:616204
HP:0002075	Dysdiadochokinesis	54902	TTC19	OMIM:615157
HP:0002075	Dysdiadochokinesis	4361	MRE11	ORPHA:251347
HP:0002075	Dysdiadochokinesis	4361	MRE11	OMIM:604391
HP:0002075	Dysdiadochokinesis	10382	TUBB4A	ORPHA:98805
HP:0002075	Dysdiadochokinesis	6571	SLC18A2	ORPHA:352649
HP:0002075	Dysdiadochokinesis	6571	SLC18A2	OMIM:618049
HP:0002075	Dysdiadochokinesis	3708	ITPR1	ORPHA:208513
HP:0002075	Dysdiadochokinesis	3708	ITPR1	OMIM:117360
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	ORPHA:352403
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	OMIM:600224
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	OMIM:615386
HP:0002075	Dysdiadochokinesis	5521	PPP2R2B	OMIM:604326
HP:0002075	Dysdiadochokinesis	1822	ATN1	ORPHA:101
HP:0002075	Dysdiadochokinesis	25814	ATXN10	ORPHA:98761
HP:0002075	Dysdiadochokinesis	25814	ATXN10	OMIM:603516
HP:0002075	Dysdiadochokinesis	6548	SLC9A1	OMIM:616291
HP:0002075	Dysdiadochokinesis	440193	CCDC88C	OMIM:616053
HP:0002075	Dysdiadochokinesis	440193	CCDC88C	ORPHA:423275
HP:0002075	Dysdiadochokinesis	23114	NFASC	OMIM:618356
HP:0002075	Dysdiadochokinesis	6311	ATXN2	OMIM:183090
HP:0002075	Dysdiadochokinesis	8878	SQSTM1	OMIM:617145
HP:0002075	Dysdiadochokinesis	59336	PRDM13	OMIM:619761
HP:0002075	Dysdiadochokinesis	79152	FA2H	ORPHA:171629
HP:0002075	Dysdiadochokinesis	79152	FA2H	OMIM:612319
HP:0002075	Dysdiadochokinesis	219285	SAMD9L	OMIM:619806
HP:0002075	Dysdiadochokinesis	472	ATM	OMIM:208900
HP:0002075	Dysdiadochokinesis	7274	TTPA	OMIM:277460
HP:0002075	Dysdiadochokinesis	7274	TTPA	ORPHA:96
HP:0002075	Dysdiadochokinesis	6785	ELOVL4	OMIM:133190
HP:0002075	Dysdiadochokinesis	6785	ELOVL4	ORPHA:1955
HP:0002075	Dysdiadochokinesis	5456	POU3F4	ORPHA:1435
HP:0002075	Dysdiadochokinesis	6310	ATXN1	ORPHA:98755
HP:0002075	Dysdiadochokinesis	6310	ATXN1	OMIM:164400
HP:0002075	Dysdiadochokinesis	10166	SLC25A15	OMIM:238970
HP:0002075	Dysdiadochokinesis	51324	SPG21	OMIM:248900
HP:0002075	Dysdiadochokinesis	5981	RFC1	ORPHA:504476
HP:0002075	Dysdiadochokinesis	1600	DAB1	ORPHA:363710
HP:0002075	Dysdiadochokinesis	55154	MSTO1	OMIM:617675
HP:0002075	Dysdiadochokinesis	55154	MSTO1	ORPHA:502423
HP:0002075	Dysdiadochokinesis	7518	XRCC4	OMIM:616541
HP:0002075	Dysdiadochokinesis	3766	KCNJ10	OMIM:612780
HP:0002075	Dysdiadochokinesis	7515	XRCC1	OMIM:617633
HP:0002075	Dysdiadochokinesis	2678	GGT1	OMIM:231950
HP:0002075	Dysdiadochokinesis	10939	AFG3L2	OMIM:614487
HP:0002075	Dysdiadochokinesis	10939	AFG3L2	ORPHA:313772
HP:0002075	Dysdiadochokinesis	7436	VLDLR	OMIM:224050
HP:0002075	Dysdiadochokinesis	6575	SLC20A2	OMIM:213600
HP:0002075	Dysdiadochokinesis	5155	PDGFB	OMIM:213600
HP:0002075	Dysdiadochokinesis	5159	PDGFRB	OMIM:213600
HP:0002075	Dysdiadochokinesis	6314	ATXN7	ORPHA:94147
HP:0002075	Dysdiadochokinesis	22	ABCB7	OMIM:301310
HP:0002075	Dysdiadochokinesis	857	CAV1	OMIM:606721
HP:0002075	Dysdiadochokinesis	6687	SPG7	OMIM:607259
HP:0002075	Dysdiadochokinesis	2332	FMR1	OMIM:300623
HP:0002075	Dysdiadochokinesis	833	CARS1	OMIM:618891
HP:0002075	Dysdiadochokinesis	8884	SLC5A6	OMIM:619903
HP:0002075	Dysdiadochokinesis	2705	GJB1	ORPHA:1175
HP:0002075	Dysdiadochokinesis	8398	PLA2G6	OMIM:610217
HP:0002075	Dysdiadochokinesis	4001	LMNB1	ORPHA:99027
HP:0002076	Migraine	7291	TWIST1	ORPHA:794
HP:0002076	Migraine	2263	FGFR2	ORPHA:794
HP:0002076	Migraine	2261	FGFR3	ORPHA:794
HP:0002076	Migraine	2261	FGFR3	ORPHA:93262
HP:0002076	Migraine	94	ACVRL1	OMIM:600376
HP:0002076	Migraine	94	ACVRL1	ORPHA:774
HP:0002076	Migraine	4088	SMAD3	ORPHA:284984
HP:0002076	Migraine	4088	SMAD3	OMIM:613795
HP:0002076	Migraine	291	SLC25A4	ORPHA:254892
HP:0002076	Migraine	5428	POLG	ORPHA:254892
HP:0002076	Migraine	5428	POLG	ORPHA:70595
HP:0002076	Migraine	5428	POLG	OMIM:607459
HP:0002076	Migraine	56652	TWNK	ORPHA:254892
HP:0002076	Migraine	56652	TWNK	ORPHA:70595
HP:0002076	Migraine	56652	TWNK	OMIM:271245
HP:0002076	Migraine	56652	TWNK	OMIM:607459
HP:0002076	Migraine	11232	POLG2	ORPHA:254892
HP:0002076	Migraine	50484	RRM2B	ORPHA:254892
HP:0002076	Migraine	50484	RRM2B	ORPHA:329336
HP:0002076	Migraine	25970	SH2B1	ORPHA:261222
HP:0002076	Migraine	4558	MT-TF	ORPHA:550
HP:0002076	Migraine	4558	MT-TF	OMIM:540000
HP:0002076	Migraine	4572	MT-TQ	ORPHA:550
HP:0002076	Migraine	4572	MT-TQ	OMIM:540000
HP:0002076	Migraine	4512	MT-CO1	ORPHA:550
HP:0002076	Migraine	4512	MT-CO1	OMIM:540000
HP:0002076	Migraine	4513	MT-CO2	ORPHA:550
HP:0002076	Migraine	4513	MT-CO2	OMIM:540000
HP:0002076	Migraine	4514	MT-CO3	ORPHA:550
HP:0002076	Migraine	4514	MT-CO3	OMIM:540000
HP:0002076	Migraine	4578	MT-TW	ORPHA:550
HP:0002076	Migraine	4578	MT-TW	OMIM:540000
HP:0002076	Migraine	4540	MT-ND5	ORPHA:550
HP:0002076	Migraine	4540	MT-ND5	OMIM:540000
HP:0002076	Migraine	4541	MT-ND6	ORPHA:550
HP:0002076	Migraine	4541	MT-ND6	OMIM:540000
HP:0002076	Migraine	4535	MT-ND1	ORPHA:550
HP:0002076	Migraine	4535	MT-ND1	OMIM:540000
HP:0002076	Migraine	4538	MT-ND4	ORPHA:550
HP:0002076	Migraine	4567	MT-TL1	ORPHA:550
HP:0002076	Migraine	4567	MT-TL1	OMIM:540000
HP:0002076	Migraine	4574	MT-TS1	ORPHA:550
HP:0002076	Migraine	4574	MT-TS1	OMIM:540000
HP:0002076	Migraine	4575	MT-TS2	ORPHA:550
HP:0002076	Migraine	4575	MT-TS2	OMIM:540000
HP:0002076	Migraine	4564	MT-TH	ORPHA:550
HP:0002076	Migraine	2811	GP1BA	ORPHA:274
HP:0002076	Migraine	2812	GP1BB	ORPHA:274
HP:0002076	Migraine	2815	GP9	ORPHA:274
HP:0002076	Migraine	246243	RNASEH1	ORPHA:329336
HP:0002076	Migraine	6513	SLC2A1	OMIM:612126
HP:0002076	Migraine	6513	SLC2A1	OMIM:601042
HP:0002076	Migraine	23600	AMACR	OMIM:614307
HP:0002076	Migraine	23600	AMACR	ORPHA:79095
HP:0002076	Migraine	51816	ADA2	ORPHA:820
HP:0002076	Migraine	773	CACNA1A	OMIM:108500
HP:0002076	Migraine	773	CACNA1A	ORPHA:97
HP:0002076	Migraine	773	CACNA1A	ORPHA:71518
HP:0002076	Migraine	773	CACNA1A	OMIM:141500
HP:0002076	Migraine	6507	SLC1A3	ORPHA:209967
HP:0002076	Migraine	6507	SLC1A3	OMIM:612656
HP:0002076	Migraine	4072	EPCAM	ORPHA:144
HP:0002076	Migraine	4292	MLH1	ORPHA:144
HP:0002076	Migraine	5395	PMS2	ORPHA:144
HP:0002076	Migraine	27030	MLH3	ORPHA:144
HP:0002076	Migraine	22909	FAN1	ORPHA:144
HP:0002076	Migraine	7048	TGFBR2	ORPHA:144
HP:0002076	Migraine	3845	KRAS	ORPHA:144
HP:0002076	Migraine	5290	PIK3CA	ORPHA:144
HP:0002076	Migraine	2956	MSH6	ORPHA:144
HP:0002076	Migraine	5378	PMS1	ORPHA:144
HP:0002076	Migraine	4436	MSH2	ORPHA:144
HP:0002076	Migraine	351	APP	ORPHA:324713
HP:0002076	Migraine	351	APP	ORPHA:324703
HP:0002076	Migraine	5155	PDGFB	OMIM:615483
HP:0002076	Migraine	64218	SEMA4A	ORPHA:440437
HP:0002076	Migraine	657	BMPR1A	ORPHA:440437
HP:0002076	Migraine	6224	RPS20	ORPHA:440437
HP:0002076	Migraine	3350	HTR1A	OMIM:614674
HP:0002076	Migraine	5159	PDGFRB	OMIM:615007
HP:0002076	Migraine	1289	COL5A1	OMIM:619329
HP:0002076	Migraine	7132	TNFRSF1A	ORPHA:32960
HP:0002076	Migraine	10059	DNM1L	ORPHA:98673
HP:0002076	Migraine	4976	OPA1	ORPHA:98673
HP:0002076	Migraine	4976	OPA1	ORPHA:1215
HP:0002076	Migraine	4519	MT-CYB	OMIM:540000
HP:0002076	Migraine	4511	MT-TC	OMIM:540000
HP:0002076	Migraine	4566	MT-TK	OMIM:540000
HP:0002076	Migraine	4577	MT-TV	OMIM:540000
HP:0002076	Migraine	2022	ENG	OMIM:187300
HP:0002076	Migraine	2022	ENG	ORPHA:774
HP:0002076	Migraine	182	JAG1	OMIM:619574
HP:0002076	Migraine	9692	PRORP	OMIM:619737
HP:0002076	Migraine	83550	GPR101	ORPHA:963
HP:0002076	Migraine	9049	AIP	ORPHA:963
HP:0002076	Migraine	1281	COL3A1	ORPHA:286
HP:0002076	Migraine	58472	SQOR	OMIM:619221
HP:0002076	Migraine	92949	ADAMTSL1	ORPHA:521445
HP:0002076	Migraine	65998	ZFTA	ORPHA:251636
HP:0002076	Migraine	5970	RELA	ORPHA:251636
HP:0002076	Migraine	114548	NLRP3	ORPHA:1451
HP:0002076	Migraine	5230	PGK1	ORPHA:713
HP:0002076	Migraine	5230	PGK1	OMIM:300653
HP:0002076	Migraine	112476	PRRT2	OMIM:605751
HP:0002076	Migraine	112476	PRRT2	ORPHA:98809
HP:0002076	Migraine	80216	ALPK1	OMIM:614979
HP:0002076	Migraine	4763	NF1	ORPHA:97685
HP:0002076	Migraine	10528	NOP56	ORPHA:276198
HP:0002076	Migraine	4854	NOTCH3	OMIM:125310
HP:0002076	Migraine	4854	NOTCH3	ORPHA:136
HP:0002076	Migraine	477	ATP1A2	OMIM:602481
HP:0002076	Migraine	11277	TREX1	OMIM:192315
HP:0002076	Migraine	11277	TREX1	ORPHA:247691
HP:0002076	Migraine	3736	KCNA1	ORPHA:98809
HP:0002076	Migraine	1282	COL4A1	OMIM:175780
HP:0002076	Migraine	4784	NFIX	ORPHA:420179
HP:0002076	Migraine	8405	SPOP	OMIM:618829
HP:0002076	Migraine	2624	GATA2	ORPHA:3226
HP:0002076	Migraine	4598	MVK	ORPHA:343
HP:0002076	Migraine	56910	STARD7	OMIM:607876
HP:0002076	Migraine	9508	ADAMTS3	OMIM:618154
HP:0002076	Migraine	6786	STIM1	OMIM:185070
HP:0002076	Migraine	2050	EPHB4	ORPHA:137667
HP:0002076	Migraine	5921	RASA1	ORPHA:137667
HP:0002076	Migraine	57462	MYORG	OMIM:618317
HP:0002076	Migraine	50485	SMARCAL1	OMIM:242900
HP:0002076	Migraine	6598	SMARCB1	ORPHA:99966
HP:0002076	Migraine	2658	GDF2	ORPHA:774
HP:0002076	Migraine	4089	SMAD4	ORPHA:774
HP:0002076	Migraine	1315	COPB1	OMIM:619255
HP:0002076	Migraine	340024	SLC6A19	ORPHA:2116
HP:0002076	Migraine	57393	CLTRN	ORPHA:2116
HP:0002076	Migraine	8799	PEX11B	OMIM:614920
HP:0002076	Migraine	3593	IL12B	ORPHA:3287
HP:0002076	Migraine	3106	HLA-B	ORPHA:3287
HP:0002076	Migraine	3106	HLA-B	ORPHA:117
HP:0002076	Migraine	6945	MLX	ORPHA:3287
HP:0002076	Migraine	27286	SRPX2	ORPHA:1945
HP:0002076	Migraine	2903	GRIN2A	ORPHA:1945
HP:0002076	Migraine	2566	GABRG2	ORPHA:1945
HP:0002076	Migraine	4693	NDP	ORPHA:649
HP:0002076	Migraine	84978	FRMD5	OMIM:620094
HP:0002076	Migraine	197322	ACSF3	ORPHA:289504
HP:0002076	Migraine	4615	MYD88	ORPHA:33226
HP:0002076	Migraine	5649	RELN	ORPHA:101046
HP:0002076	Migraine	9211	LGI1	ORPHA:101046
HP:0002076	Migraine	9681	DEPDC5	ORPHA:101046
HP:0002076	Migraine	1453	CSNK1D	OMIM:615224
HP:0002076	Migraine	149233	IL23R	ORPHA:117
HP:0002076	Migraine	6775	STAT4	ORPHA:117
HP:0002076	Migraine	3586	IL10	ORPHA:117
HP:0002076	Migraine	4210	MEFV	ORPHA:117
HP:0002076	Migraine	1230	CCR1	ORPHA:117
HP:0002076	Migraine	355	FAS	ORPHA:117
HP:0002076	Migraine	3592	IL12A	ORPHA:117
HP:0002076	Migraine	101928376	IL12A-AS1	ORPHA:117
HP:0002076	Migraine	7099	TLR4	ORPHA:117
HP:0002076	Migraine	3459	IFNGR1	ORPHA:117
HP:0002076	Migraine	720	C4A	ORPHA:117
HP:0002076	Migraine	337867	UBAC2	ORPHA:117
HP:0002076	Migraine	51752	ERAP1	ORPHA:117
HP:0002076	Migraine	8302	KLRC4	ORPHA:117
HP:0002076	Migraine	1909	EDNRA	OMIM:157300
HP:0002076	Migraine	2099	ESR1	OMIM:157300
HP:0002076	Migraine	7124	TNF	OMIM:157300
HP:0002076	Migraine	338567	KCNK18	OMIM:613656
HP:0002076	Migraine	6323	SCN1A	OMIM:609634
HP:0002076	Migraine	6323	SCN1A	ORPHA:569
HP:0002077	Migraine with aura	4854	NOTCH3	ORPHA:136
HP:0002077	Migraine with aura	1909	EDNRA	OMIM:157300
HP:0002077	Migraine with aura	2099	ESR1	OMIM:157300
HP:0002077	Migraine with aura	7124	TNF	OMIM:157300
HP:0002077	Migraine with aura	11277	TREX1	ORPHA:247691
HP:0002077	Migraine with aura	1453	CSNK1D	OMIM:615224
HP:0002077	Migraine with aura	338567	KCNK18	OMIM:613656
HP:0002077	Migraine with aura	1282	COL4A1	OMIM:175780
HP:0002077	Migraine with aura	6323	SCN1A	OMIM:609634
HP:0002077	Migraine with aura	6323	SCN1A	ORPHA:569
HP:0002077	Migraine with aura	773	CACNA1A	OMIM:141500
HP:0002077	Migraine with aura	773	CACNA1A	ORPHA:569
HP:0002077	Migraine with aura	112476	PRRT2	ORPHA:569
HP:0002077	Migraine with aura	477	ATP1A2	ORPHA:569
HP:0002077	Migraine with aura	477	ATP1A2	OMIM:602481
HP:0002078	Truncal ataxia	1203	CLN5	ORPHA:228360
HP:0002078	Truncal ataxia	10128	LRPPRC	OMIM:220111
HP:0002078	Truncal ataxia	773	CACNA1A	OMIM:183086
HP:0002078	Truncal ataxia	4287	ATXN3	OMIM:109150
HP:0002078	Truncal ataxia	10466	COG5	ORPHA:263487
HP:0002078	Truncal ataxia	10466	COG5	OMIM:613612
HP:0002078	Truncal ataxia	1173	AP2M1	OMIM:618587
HP:0002078	Truncal ataxia	4574	MT-TS1	OMIM:220110
HP:0002078	Truncal ataxia	4570	MT-TN	OMIM:220110
HP:0002078	Truncal ataxia	6834	SURF1	OMIM:220110
HP:0002078	Truncal ataxia	9420	CYP7B1	ORPHA:100986
HP:0002078	Truncal ataxia	55532	SLC30A10	ORPHA:309854
HP:0002078	Truncal ataxia	124997	WDR81	OMIM:610185
HP:0002078	Truncal ataxia	2895	GRID2	OMIM:616204
HP:0002078	Truncal ataxia	2895	GRID2	ORPHA:363432
HP:0002078	Truncal ataxia	60684	TRAPPC11	OMIM:615356
HP:0002078	Truncal ataxia	60684	TRAPPC11	ORPHA:369840
HP:0002078	Truncal ataxia	60684	TRAPPC11	ORPHA:369847
HP:0002078	Truncal ataxia	57704	GBA2	ORPHA:352641
HP:0002078	Truncal ataxia	57704	GBA2	ORPHA:320391
HP:0002078	Truncal ataxia	785	CACNB4	OMIM:613855
HP:0002078	Truncal ataxia	785	CACNB4	OMIM:607682
HP:0002078	Truncal ataxia	785	CACNB4	ORPHA:211067
HP:0002078	Truncal ataxia	5428	POLG	OMIM:258450
HP:0002078	Truncal ataxia	85300	ATCAY	ORPHA:94122
HP:0002078	Truncal ataxia	85300	ATCAY	OMIM:601238
HP:0002078	Truncal ataxia	6712	SPTBN2	ORPHA:352403
HP:0002078	Truncal ataxia	10479	SLC9A6	OMIM:300243
HP:0002078	Truncal ataxia	10479	SLC9A6	ORPHA:85278
HP:0002078	Truncal ataxia	26275	HIBCH	ORPHA:88639
HP:0002078	Truncal ataxia	26275	HIBCH	OMIM:250620
HP:0002078	Truncal ataxia	478	ATP1A3	OMIM:601338
HP:0002078	Truncal ataxia	10528	NOP56	OMIM:614153
HP:0002078	Truncal ataxia	10528	NOP56	ORPHA:276198
HP:0002078	Truncal ataxia	10273	STUB1	OMIM:615768
HP:0002078	Truncal ataxia	10273	STUB1	ORPHA:412057
HP:0002078	Truncal ataxia	5610	EIF2AK2	OMIM:618877
HP:0002078	Truncal ataxia	6507	SLC1A3	OMIM:612656
HP:0002078	Truncal ataxia	154881	KCTD7	OMIM:611726
HP:0002078	Truncal ataxia	10166	SLC25A15	OMIM:238970
HP:0002078	Truncal ataxia	1340	COX6B1	OMIM:619051
HP:0002078	Truncal ataxia	146057	TTBK2	OMIM:604432
HP:0002078	Truncal ataxia	9289	ADGRG1	OMIM:606854
HP:0002078	Truncal ataxia	1600	DAB1	ORPHA:363710
HP:0002078	Truncal ataxia	55154	MSTO1	OMIM:617675
HP:0002078	Truncal ataxia	7436	VLDLR	OMIM:224050
HP:0002078	Truncal ataxia	267010	RNU12	OMIM:620208
HP:0002078	Truncal ataxia	55157	DARS2	ORPHA:137898
HP:0002078	Truncal ataxia	51079	NDUFA13	OMIM:618249
HP:0002078	Truncal ataxia	7276	TTR	OMIM:105210
HP:0002078	Truncal ataxia	55187	VPS13D	ORPHA:95434
HP:0002078	Truncal ataxia	27072	VPS41	ORPHA:95434
HP:0002078	Truncal ataxia	215	ABCD1	OMIM:300100
HP:0002078	Truncal ataxia	10715	CERS1	OMIM:616230
HP:0002078	Truncal ataxia	84504	NKX6-2	OMIM:617560
HP:0002078	Truncal ataxia	51761	ATP8A2	OMIM:615268
HP:0002078	Truncal ataxia	54840	APTX	OMIM:208920
HP:0002078	Truncal ataxia	27010	TPK1	OMIM:614458
HP:0002078	Truncal ataxia	492	ATP2B3	ORPHA:314978
HP:0002078	Truncal ataxia	113278	SLC52A3	OMIM:211530
HP:0002078	Truncal ataxia	5192	PEX10	ORPHA:247815
HP:0002078	Truncal ataxia	3752	KCND3	ORPHA:98772
HP:0002078	Truncal ataxia	3752	KCND3	OMIM:607346
HP:0002078	Truncal ataxia	1938	EEF2	OMIM:609306
HP:0002078	Truncal ataxia	1938	EEF2	ORPHA:101112
HP:0002078	Truncal ataxia	253738	EBF3	OMIM:617330
HP:0002078	Truncal ataxia	339983	NAT8L	OMIM:614063
HP:0002078	Truncal ataxia	55280	CWF19L1	OMIM:616127
HP:0002078	Truncal ataxia	55280	CWF19L1	ORPHA:453521
HP:0002078	Truncal ataxia	131669	UROC1	OMIM:276880
HP:0002078	Truncal ataxia	131669	UROC1	ORPHA:210128
HP:0002078	Truncal ataxia	255928	SYT14	OMIM:614229
HP:0002078	Truncal ataxia	255928	SYT14	ORPHA:284271
HP:0002078	Truncal ataxia	3035	HARS1	OMIM:614504
HP:0002078	Truncal ataxia	11128	POLR3A	OMIM:264090
HP:0002078	Truncal ataxia	11128	POLR3A	ORPHA:3455
HP:0002078	Truncal ataxia	2259	FGF14	ORPHA:98764
HP:0002078	Truncal ataxia	83475	DOHH	OMIM:620066
HP:0002078	Truncal ataxia	1822	ATN1	ORPHA:101
HP:0002078	Truncal ataxia	22983	MAST1	OMIM:618273
HP:0002078	Truncal ataxia	6472	SHMT2	OMIM:619121
HP:0002078	Truncal ataxia	53335	BCL11A	OMIM:617101
HP:0002078	Truncal ataxia	9474	ATG5	OMIM:617584
HP:0002078	Truncal ataxia	84919	PPP1R15B	OMIM:616817
HP:0002078	Truncal ataxia	3708	ITPR1	OMIM:606658
HP:0002078	Truncal ataxia	55129	ANO10	ORPHA:284289
HP:0002078	Truncal ataxia	55129	ANO10	OMIM:613728
HP:0002078	Truncal ataxia	5621	PRNP	OMIM:137440
HP:0002078	Truncal ataxia	6389	SDHA	OMIM:619259
HP:0002078	Truncal ataxia	6389	SDHA	OMIM:252011
HP:0002078	Truncal ataxia	200403	VWA3B	OMIM:616948
HP:0002078	Truncal ataxia	153241	CEP120	OMIM:617761
HP:0002078	Truncal ataxia	4204	MECP2	OMIM:312750
HP:0002078	Truncal ataxia	5277	PIGA	OMIM:301072
HP:0002078	Truncal ataxia	4976	OPA1	OMIM:210000
HP:0002078	Truncal ataxia	6310	ATXN1	OMIM:164400
HP:0002078	Truncal ataxia	26278	SACS	OMIM:270550
HP:0002079	Hypoplasia of the corpus callosum	2137	EXTL3	ORPHA:508533
HP:0002079	Hypoplasia of the corpus callosum	7528	YY1	ORPHA:506358
HP:0002079	Hypoplasia of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0002079	Hypoplasia of the corpus callosum	8036	SHOC2	OMIM:607721
HP:0002079	Hypoplasia of the corpus callosum	23394	ADNP	ORPHA:404448
HP:0002079	Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:614381
HP:0002079	Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:607694
HP:0002079	Hypoplasia of the corpus callosum	10617	STAMBP	OMIM:614261
HP:0002079	Hypoplasia of the corpus callosum	26235	FBXL4	OMIM:615471
HP:0002079	Hypoplasia of the corpus callosum	104	ADARB1	OMIM:618862
HP:0002079	Hypoplasia of the corpus callosum	23019	CNOT1	OMIM:618500
HP:0002079	Hypoplasia of the corpus callosum	9853	RUSC2	OMIM:617773
HP:0002079	Hypoplasia of the corpus callosum	55823	VPS11	OMIM:616683
HP:0002079	Hypoplasia of the corpus callosum	55823	VPS11	ORPHA:466934
HP:0002079	Hypoplasia of the corpus callosum	343450	KCNT2	OMIM:617771
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:615473
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:617493
HP:0002079	Hypoplasia of the corpus callosum	6873	TAF2	OMIM:615599
HP:0002079	Hypoplasia of the corpus callosum	6873	TAF2	ORPHA:397951
HP:0002079	Hypoplasia of the corpus callosum	1947	EFNB1	ORPHA:1520
HP:0002079	Hypoplasia of the corpus callosum	1947	EFNB1	OMIM:304110
HP:0002079	Hypoplasia of the corpus callosum	7360	UGP2	OMIM:618744
HP:0002079	Hypoplasia of the corpus callosum	81857	MED25	OMIM:616449
HP:0002079	Hypoplasia of the corpus callosum	81857	MED25	ORPHA:464738
HP:0002079	Hypoplasia of the corpus callosum	84942	WDR73	OMIM:251300
HP:0002079	Hypoplasia of the corpus callosum	10159	ATP6AP2	ORPHA:93952
HP:0002079	Hypoplasia of the corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0002079	Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0002079	Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0002079	Hypoplasia of the corpus callosum	116931	MED12L	OMIM:618872
HP:0002079	Hypoplasia of the corpus callosum	10300	KATNB1	OMIM:616212
HP:0002079	Hypoplasia of the corpus callosum	10300	KATNB1	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	80816	ASXL3	OMIM:615485
HP:0002079	Hypoplasia of the corpus callosum	6536	SLC6A9	OMIM:617301
HP:0002079	Hypoplasia of the corpus callosum	51741	WWOX	OMIM:616211
HP:0002079	Hypoplasia of the corpus callosum	5917	RARS1	ORPHA:438114
HP:0002079	Hypoplasia of the corpus callosum	5917	RARS1	OMIM:616140
HP:0002079	Hypoplasia of the corpus callosum	27245	AHDC1	ORPHA:412069
HP:0002079	Hypoplasia of the corpus callosum	27245	AHDC1	OMIM:615829
HP:0002079	Hypoplasia of the corpus callosum	166378	AFG2A	OMIM:616577
HP:0002079	Hypoplasia of the corpus callosum	375387	NRROS	OMIM:618875
HP:0002079	Hypoplasia of the corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:614039
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	ORPHA:300570
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:600638
HP:0002079	Hypoplasia of the corpus callosum	284403	WDR62	OMIM:604317
HP:0002079	Hypoplasia of the corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0002079	Hypoplasia of the corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363958
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	OMIM:610443
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363965
HP:0002079	Hypoplasia of the corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0002079	Hypoplasia of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0002079	Hypoplasia of the corpus callosum	7343	UBTF	OMIM:617672
HP:0002079	Hypoplasia of the corpus callosum	7343	UBTF	ORPHA:500180
HP:0002079	Hypoplasia of the corpus callosum	6844	VAMP2	OMIM:618760
HP:0002079	Hypoplasia of the corpus callosum	79029	AFG2B	OMIM:619616
HP:0002079	Hypoplasia of the corpus callosum	11232	POLG2	OMIM:618528
HP:0002079	Hypoplasia of the corpus callosum	1183	CLCN4	ORPHA:485350
HP:0002079	Hypoplasia of the corpus callosum	1183	CLCN4	OMIM:300114
HP:0002079	Hypoplasia of the corpus callosum	83480	PUS3	ORPHA:488627
HP:0002079	Hypoplasia of the corpus callosum	6872	TAF1	ORPHA:480907
HP:0002079	Hypoplasia of the corpus callosum	6872	TAF1	OMIM:300966
HP:0002079	Hypoplasia of the corpus callosum	171023	ASXL1	ORPHA:97297
HP:0002079	Hypoplasia of the corpus callosum	171023	ASXL1	OMIM:605039
HP:0002079	Hypoplasia of the corpus callosum	4763	NF1	ORPHA:363700
HP:0002079	Hypoplasia of the corpus callosum	1656	DDX6	OMIM:618653
HP:0002079	Hypoplasia of the corpus callosum	25930	PTPN23	OMIM:618890
HP:0002079	Hypoplasia of the corpus callosum	23327	NEDD4L	OMIM:617201
HP:0002079	Hypoplasia of the corpus callosum	833	CARS1	OMIM:618891
HP:0002079	Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0002079	Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0002079	Hypoplasia of the corpus callosum	54872	PIGG	ORPHA:488635
HP:0002079	Hypoplasia of the corpus callosum	54872	PIGG	OMIM:616917
HP:0002079	Hypoplasia of the corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0002079	Hypoplasia of the corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	ORPHA:2822
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	OMIM:604360
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	OMIM:616668
HP:0002079	Hypoplasia of the corpus callosum	93627	TBCK	ORPHA:488632
HP:0002079	Hypoplasia of the corpus callosum	93627	TBCK	OMIM:616900
HP:0002079	Hypoplasia of the corpus callosum	79731	NARS2	OMIM:616239
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	OMIM:617207
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	OMIM:241410
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	ORPHA:496756
HP:0002079	Hypoplasia of the corpus callosum	8642	DCHS1	OMIM:601390
HP:0002079	Hypoplasia of the corpus callosum	8642	DCHS1	ORPHA:314679
HP:0002079	Hypoplasia of the corpus callosum	26040	SETBP1	OMIM:269150
HP:0002079	Hypoplasia of the corpus callosum	26040	SETBP1	ORPHA:798
HP:0002079	Hypoplasia of the corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0002079	Hypoplasia of the corpus callosum	1499	CTNNB1	OMIM:615075
HP:0002079	Hypoplasia of the corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0002079	Hypoplasia of the corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0002079	Hypoplasia of the corpus callosum	113612	CYP2U1	OMIM:615030
HP:0002079	Hypoplasia of the corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0002079	Hypoplasia of the corpus callosum	2261	FGFR3	OMIM:616482
HP:0002079	Hypoplasia of the corpus callosum	2261	FGFR3	ORPHA:85165
HP:0002079	Hypoplasia of the corpus callosum	9895	TECPR2	OMIM:615031
HP:0002079	Hypoplasia of the corpus callosum	9895	TECPR2	ORPHA:320385
HP:0002079	Hypoplasia of the corpus callosum	10717	AP4B1	OMIM:614066
HP:0002079	Hypoplasia of the corpus callosum	10717	AP4B1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	84879	MFSD2A	OMIM:616486
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	OMIM:615035
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:320375
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:254930
HP:0002079	Hypoplasia of the corpus callosum	84504	NKX6-2	ORPHA:527497
HP:0002079	Hypoplasia of the corpus callosum	23126	POGZ	OMIM:616364
HP:0002079	Hypoplasia of the corpus callosum	23126	POGZ	ORPHA:468678
HP:0002079	Hypoplasia of the corpus callosum	55773	TBC1D23	OMIM:617695
HP:0002079	Hypoplasia of the corpus callosum	8558	CDK10	OMIM:617694
HP:0002079	Hypoplasia of the corpus callosum	23259	DDHD2	OMIM:615033
HP:0002079	Hypoplasia of the corpus callosum	23259	DDHD2	ORPHA:320380
HP:0002079	Hypoplasia of the corpus callosum	51633	OTUD6B	OMIM:617452
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0002079	Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:217385
HP:0002079	Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	3098	HK1	OMIM:618547
HP:0002079	Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:464311
HP:0002079	Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:268261
HP:0002079	Hypoplasia of the corpus callosum	85365	ALG2	ORPHA:79326
HP:0002079	Hypoplasia of the corpus callosum	26137	ZBTB20	OMIM:259050
HP:0002079	Hypoplasia of the corpus callosum	9533	POLR1C	OMIM:616494
HP:0002079	Hypoplasia of the corpus callosum	1615	DARS1	OMIM:615281
HP:0002079	Hypoplasia of the corpus callosum	3800	KIF5C	OMIM:615282
HP:0002079	Hypoplasia of the corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0002079	Hypoplasia of the corpus callosum	2232	FDXR	ORPHA:543470
HP:0002079	Hypoplasia of the corpus callosum	51098	IFT52	OMIM:617102
HP:0002079	Hypoplasia of the corpus callosum	4849	CNOT3	OMIM:618672
HP:0002079	Hypoplasia of the corpus callosum	6506	SLC1A2	OMIM:617105
HP:0002079	Hypoplasia of the corpus callosum	10297	APC2	OMIM:618677
HP:0002079	Hypoplasia of the corpus callosum	25973	PARS2	OMIM:618437
HP:0002079	Hypoplasia of the corpus callosum	79971	WLS	OMIM:619648
HP:0002079	Hypoplasia of the corpus callosum	2558	GABRA5	OMIM:618559
HP:0002079	Hypoplasia of the corpus callosum	79633	FAT4	ORPHA:314679
HP:0002079	Hypoplasia of the corpus callosum	79633	FAT4	OMIM:615546
HP:0002079	Hypoplasia of the corpus callosum	7841	MOGS	ORPHA:79330
HP:0002079	Hypoplasia of the corpus callosum	7841	MOGS	OMIM:606056
HP:0002079	Hypoplasia of the corpus callosum	6925	TCF4	OMIM:610954
HP:0002079	Hypoplasia of the corpus callosum	10743	RAI1	ORPHA:1713
HP:0002079	Hypoplasia of the corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0002079	Hypoplasia of the corpus callosum	4208	MEF2C	ORPHA:228384
HP:0002079	Hypoplasia of the corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0002079	Hypoplasia of the corpus callosum	3798	KIF5A	OMIM:617235
HP:0002079	Hypoplasia of the corpus callosum	8565	YARS1	OMIM:619418
HP:0002079	Hypoplasia of the corpus callosum	51227	PIGP	OMIM:617599
HP:0002079	Hypoplasia of the corpus callosum	51227	PIGP	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0002079	Hypoplasia of the corpus callosum	3785	KCNQ2	OMIM:613720
HP:0002079	Hypoplasia of the corpus callosum	23499	MACF1	OMIM:618325
HP:0002079	Hypoplasia of the corpus callosum	374969	SVBP	OMIM:618569
HP:0002079	Hypoplasia of the corpus callosum	51062	ATL1	OMIM:182600
HP:0002079	Hypoplasia of the corpus callosum	10195	ALG3	ORPHA:79321
HP:0002079	Hypoplasia of the corpus callosum	79087	ALG12	ORPHA:79324
HP:0002079	Hypoplasia of the corpus callosum	79053	ALG8	ORPHA:79325
HP:0002079	Hypoplasia of the corpus callosum	9896	FIG4	OMIM:216340
HP:0002079	Hypoplasia of the corpus callosum	3897	L1CAM	OMIM:304100
HP:0002079	Hypoplasia of the corpus callosum	8295	TRRAP	OMIM:618454
HP:0002079	Hypoplasia of the corpus callosum	9742	IFT140	OMIM:266920
HP:0002079	Hypoplasia of the corpus callosum	7040	TGFB1	OMIM:618213
HP:0002079	Hypoplasia of the corpus callosum	58497	PRUNE1	OMIM:617481
HP:0002079	Hypoplasia of the corpus callosum	8621	CDK13	OMIM:617360
HP:0002079	Hypoplasia of the corpus callosum	5881	RAC3	OMIM:618577
HP:0002079	Hypoplasia of the corpus callosum	22930	RAB3GAP1	OMIM:619420
HP:0002079	Hypoplasia of the corpus callosum	22930	RAB3GAP1	OMIM:600118
HP:0002079	Hypoplasia of the corpus callosum	27429	HTRA2	OMIM:617248
HP:0002079	Hypoplasia of the corpus callosum	51013	EXOSC1	OMIM:619304
HP:0002079	Hypoplasia of the corpus callosum	55770	EXOC2	OMIM:619306
HP:0002079	Hypoplasia of the corpus callosum	6792	CDKL5	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	3736	KCNA1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	9091	PIGQ	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	81603	TRIM8	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:208447
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:617820
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:614254
HP:0002079	Hypoplasia of the corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	150094	SIK1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	8573	CASK	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	23312	DMXL2	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2917	GRM7	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2917	GRM7	OMIM:618922
HP:0002079	Hypoplasia of the corpus callosum	170302	ARX	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	11284	PNKP	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	11284	PNKP	OMIM:613402
HP:0002079	Hypoplasia of the corpus callosum	6326	SCN2A	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	6324	SCN1B	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	4761	NEUROD2	OMIM:618374
HP:0002079	Hypoplasia of the corpus callosum	9361	LONP1	OMIM:600373
HP:0002079	Hypoplasia of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0002079	Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508498
HP:0002079	Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508488
HP:0002079	Hypoplasia of the corpus callosum	9488	PIGB	OMIM:618580
HP:0002079	Hypoplasia of the corpus callosum	3912	LAMB1	OMIM:615191
HP:0002079	Hypoplasia of the corpus callosum	84706	GPT2	OMIM:616281
HP:0002079	Hypoplasia of the corpus callosum	84706	GPT2	ORPHA:477673
HP:0002079	Hypoplasia of the corpus callosum	4558	MT-TF	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4572	MT-TQ	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4512	MT-CO1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4513	MT-CO2	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4514	MT-CO3	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4578	MT-TW	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4540	MT-ND5	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4541	MT-ND6	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4535	MT-ND1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4538	MT-ND4	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4567	MT-TL1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4574	MT-TS1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4575	MT-TS2	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4564	MT-TH	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	79876	UBA5	OMIM:617132
HP:0002079	Hypoplasia of the corpus callosum	160418	TMTC3	OMIM:617255
HP:0002079	Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0002079	Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0002079	Hypoplasia of the corpus callosum	2187	FANCB	OMIM:300514
HP:0002079	Hypoplasia of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0002079	Hypoplasia of the corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0002079	Hypoplasia of the corpus callosum	85476	GFM1	OMIM:609060
HP:0002079	Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618468
HP:0002079	Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618470
HP:0002079	Hypoplasia of the corpus callosum	100151683	RNU4ATAC	ORPHA:353298
HP:0002079	Hypoplasia of the corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0002079	Hypoplasia of the corpus callosum	2671	GFER	ORPHA:330054
HP:0002079	Hypoplasia of the corpus callosum	1605	DAG1	ORPHA:370997
HP:0002079	Hypoplasia of the corpus callosum	1605	DAG1	OMIM:616538
HP:0002079	Hypoplasia of the corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0002079	Hypoplasia of the corpus callosum	11160	ERLIN2	OMIM:611225
HP:0002079	Hypoplasia of the corpus callosum	56945	MRPS22	OMIM:611719
HP:0002079	Hypoplasia of the corpus callosum	128869	PIGU	OMIM:618590
HP:0002079	Hypoplasia of the corpus callosum	5631	PRPS1	ORPHA:423479
HP:0002079	Hypoplasia of the corpus callosum	7707	ZNF148	OMIM:617260
HP:0002079	Hypoplasia of the corpus callosum	2972	BRF1	ORPHA:444072
HP:0002079	Hypoplasia of the corpus callosum	1349	COX7B	OMIM:300887
HP:0002079	Hypoplasia of the corpus callosum	5515	PPP2CA	OMIM:618354
HP:0002079	Hypoplasia of the corpus callosum	55610	VPS50	OMIM:619685
HP:0002079	Hypoplasia of the corpus callosum	4695	NDUFA2	OMIM:618235
HP:0002079	Hypoplasia of the corpus callosum	6651	SON	OMIM:617140
HP:0002079	Hypoplasia of the corpus callosum	6651	SON	ORPHA:500150
HP:0002079	Hypoplasia of the corpus callosum	5649	RELN	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	54820	NDE1	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	55262	TRAPPC14	OMIM:618351
HP:0002079	Hypoplasia of the corpus callosum	1654	DDX3X	ORPHA:457260
HP:0002079	Hypoplasia of the corpus callosum	1654	DDX3X	OMIM:300958
HP:0002079	Hypoplasia of the corpus callosum	5660	PSAP	OMIM:611721
HP:0002079	Hypoplasia of the corpus callosum	26128	KIFBP	ORPHA:66629
HP:0002079	Hypoplasia of the corpus callosum	26128	KIFBP	OMIM:609460
HP:0002079	Hypoplasia of the corpus callosum	7846	TUBA1A	OMIM:611603
HP:0002079	Hypoplasia of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0002079	Hypoplasia of the corpus callosum	154881	KCTD7	OMIM:611726
HP:0002079	Hypoplasia of the corpus callosum	9179	AP4M1	OMIM:612936
HP:0002079	Hypoplasia of the corpus callosum	9179	AP4M1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	OMIM:613156
HP:0002079	Hypoplasia of the corpus callosum	9215	LARGE1	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	9215	LARGE1	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	79147	FKRP	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	79147	FKRP	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	OMIM:613155
HP:0002079	Hypoplasia of the corpus callosum	2218	FKTN	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	6904	TBCD	ORPHA:496641
HP:0002079	Hypoplasia of the corpus callosum	6904	TBCD	OMIM:617193
HP:0002079	Hypoplasia of the corpus callosum	29925	GMPPB	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	7337	UBE3A	ORPHA:98794
HP:0002079	Hypoplasia of the corpus callosum	4948	OCA2	ORPHA:98794
HP:0002079	Hypoplasia of the corpus callosum	473	RERE	ORPHA:494344
HP:0002079	Hypoplasia of the corpus callosum	473	RERE	OMIM:616975
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	OMIM:602535
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	ORPHA:420179
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	OMIM:614753
HP:0002079	Hypoplasia of the corpus callosum	84340	GFM2	ORPHA:565624
HP:0002079	Hypoplasia of the corpus callosum	22796	COG2	OMIM:617395
HP:0002079	Hypoplasia of the corpus callosum	22796	COG2	ORPHA:435934
HP:0002079	Hypoplasia of the corpus callosum	2560	GABRB1	OMIM:617153
HP:0002079	Hypoplasia of the corpus callosum	10588	MTHFS	OMIM:618367
HP:0002079	Hypoplasia of the corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0002079	Hypoplasia of the corpus callosum	8120	AP3B2	OMIM:617276
HP:0002079	Hypoplasia of the corpus callosum	7965	AIMP2	OMIM:618006
HP:0002079	Hypoplasia of the corpus callosum	201163	FLCN	OMIM:610883
HP:0002079	Hypoplasia of the corpus callosum	29920	PYCR2	ORPHA:481152
HP:0002079	Hypoplasia of the corpus callosum	29920	PYCR2	OMIM:616420
HP:0002079	Hypoplasia of the corpus callosum	7703	PCGF2	OMIM:618371
HP:0002079	Hypoplasia of the corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0002079	Hypoplasia of the corpus callosum	29968	PSAT1	ORPHA:284417
HP:0002079	Hypoplasia of the corpus callosum	191	AHCY	ORPHA:88618
HP:0002079	Hypoplasia of the corpus callosum	51324	SPG21	ORPHA:101001
HP:0002079	Hypoplasia of the corpus callosum	7161	TP73	OMIM:619466
HP:0002079	Hypoplasia of the corpus callosum	11342	RNF13	OMIM:618379
HP:0002079	Hypoplasia of the corpus callosum	11342	RNF13	ORPHA:544503
HP:0002079	Hypoplasia of the corpus callosum	9758	FRMPD4	OMIM:300983
HP:0002079	Hypoplasia of the corpus callosum	5277	PIGA	OMIM:300868
HP:0002079	Hypoplasia of the corpus callosum	1822	ATN1	OMIM:618494
HP:0002079	Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:618012
HP:0002079	Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:617403
HP:0002079	Hypoplasia of the corpus callosum	4990	SIX6	OMIM:206900
HP:0002079	Hypoplasia of the corpus callosum	6657	SOX2	OMIM:206900
HP:0002079	Hypoplasia of the corpus callosum	8883	NAE1	OMIM:620210
HP:0002079	Hypoplasia of the corpus callosum	80185	TTI2	ORPHA:391307
HP:0002079	Hypoplasia of the corpus callosum	50801	KCNK4	OMIM:618381
HP:0002079	Hypoplasia of the corpus callosum	11340	EXOSC8	OMIM:616081
HP:0002079	Hypoplasia of the corpus callosum	84265	POLR3GL	OMIM:619234
HP:0002079	Hypoplasia of the corpus callosum	9851	KIAA0753	OMIM:619479
HP:0002079	Hypoplasia of the corpus callosum	2892	GRIA3	ORPHA:364028
HP:0002079	Hypoplasia of the corpus callosum	348180	CTU2	OMIM:618142
HP:0002079	Hypoplasia of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0002079	Hypoplasia of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0002079	Hypoplasia of the corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0002079	Hypoplasia of the corpus callosum	51091	SEPSECS	OMIM:613811
HP:0002079	Hypoplasia of the corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	51360	MBTPS2	OMIM:308205
HP:0002079	Hypoplasia of the corpus callosum	2571	GAD1	OMIM:619124
HP:0002079	Hypoplasia of the corpus callosum	2222	FDFT1	OMIM:618156
HP:0002079	Hypoplasia of the corpus callosum	203068	TUBB	OMIM:156610
HP:0002079	Hypoplasia of the corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0002079	Hypoplasia of the corpus callosum	90522	YIF1B	OMIM:619125
HP:0002079	Hypoplasia of the corpus callosum	374354	NHLRC2	OMIM:618278
HP:0002079	Hypoplasia of the corpus callosum	8239	USP9X	OMIM:300968
HP:0002079	Hypoplasia of the corpus callosum	8239	USP9X	ORPHA:480880
HP:0002079	Hypoplasia of the corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0002079	Hypoplasia of the corpus callosum	6472	SHMT2	OMIM:619121
HP:0002079	Hypoplasia of the corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:171629
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:329308
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	OMIM:612319
HP:0002079	Hypoplasia of the corpus callosum	9373	PLAA	ORPHA:521426
HP:0002079	Hypoplasia of the corpus callosum	9373	PLAA	OMIM:617527
HP:0002079	Hypoplasia of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0002079	Hypoplasia of the corpus callosum	8911	CACNA1I	OMIM:620114
HP:0002079	Hypoplasia of the corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0002079	Hypoplasia of the corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0002079	Hypoplasia of the corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0002079	Hypoplasia of the corpus callosum	3090	HIC1	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	6748	SSR4	ORPHA:370927
HP:0002079	Hypoplasia of the corpus callosum	6748	SSR4	OMIM:300934
HP:0002079	Hypoplasia of the corpus callosum	2177	FANCD2	OMIM:227646
HP:0002079	Hypoplasia of the corpus callosum	2629	GBA1	ORPHA:2072
HP:0002079	Hypoplasia of the corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0002079	Hypoplasia of the corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0002079	Hypoplasia of the corpus callosum	54187	NANS	OMIM:610442
HP:0002079	Hypoplasia of the corpus callosum	55005	RMND1	OMIM:614922
HP:0002079	Hypoplasia of the corpus callosum	3295	HSD17B4	OMIM:261515
HP:0002079	Hypoplasia of the corpus callosum	124454	EARS2	OMIM:614924
HP:0002079	Hypoplasia of the corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0002079	Hypoplasia of the corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	10079	ATP9A	OMIM:620242
HP:0002079	Hypoplasia of the corpus callosum	23299	BICD2	OMIM:618291
HP:0002079	Hypoplasia of the corpus callosum	64802	NMNAT1	OMIM:619260
HP:0002079	Hypoplasia of the corpus callosum	129285	PPP1R21	OMIM:619383
HP:0002079	Hypoplasia of the corpus callosum	114034	TOE1	ORPHA:284339
HP:0002079	Hypoplasia of the corpus callosum	114034	TOE1	OMIM:614969
HP:0002079	Hypoplasia of the corpus callosum	9562	MINPP1	ORPHA:284339
HP:0002079	Hypoplasia of the corpus callosum	2316	FLNA	ORPHA:555877
HP:0002079	Hypoplasia of the corpus callosum	2316	FLNA	OMIM:300049
HP:0002079	Hypoplasia of the corpus callosum	84842	HPDL	OMIM:619026
HP:0002079	Hypoplasia of the corpus callosum	1496	CTNNA2	OMIM:618174
HP:0002079	Hypoplasia of the corpus callosum	221927	BRAT1	OMIM:618056
HP:0002079	Hypoplasia of the corpus callosum	27445	PCLO	OMIM:608027
HP:0002079	Hypoplasia of the corpus callosum	3480	IGF1R	OMIM:270450
HP:0002079	Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:166024
HP:0002079	Hypoplasia of the corpus callosum	374654	KIF7	OMIM:607131
HP:0002079	Hypoplasia of the corpus callosum	10682	EBP	ORPHA:401973
HP:0002079	Hypoplasia of the corpus callosum	6095	RORA	OMIM:618060
HP:0002079	Hypoplasia of the corpus callosum	11113	CIT	OMIM:617090
HP:0002079	Hypoplasia of the corpus callosum	8450	CUL4B	OMIM:300354
HP:0002079	Hypoplasia of the corpus callosum	9131	AIFM1	OMIM:300232
HP:0002079	Hypoplasia of the corpus callosum	9131	AIFM1	ORPHA:83629
HP:0002079	Hypoplasia of the corpus callosum	6535	SLC6A8	OMIM:300352
HP:0002079	Hypoplasia of the corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0002079	Hypoplasia of the corpus callosum	7355	SLC35A2	OMIM:300896
HP:0002079	Hypoplasia of the corpus callosum	347734	SLC35B2	OMIM:620269
HP:0002079	Hypoplasia of the corpus callosum	781	CACNA2D1	OMIM:620149
HP:0002079	Hypoplasia of the corpus callosum	4774	NFIA	OMIM:613735
HP:0002079	Hypoplasia of the corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0002079	Hypoplasia of the corpus callosum	132158	GLYCTK	ORPHA:941
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	OMIM:235730
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261552
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261537
HP:0002079	Hypoplasia of the corpus callosum	57176	VARS2	OMIM:615917
HP:0002079	Hypoplasia of the corpus callosum	80222	TARS2	OMIM:615918
HP:0002079	Hypoplasia of the corpus callosum	54209	TREM2	OMIM:618193
HP:0002079	Hypoplasia of the corpus callosum	200205	IBA57	ORPHA:468661
HP:0002079	Hypoplasia of the corpus callosum	200205	IBA57	OMIM:615330
HP:0002079	Hypoplasia of the corpus callosum	80232	WDR26	ORPHA:513456
HP:0002079	Hypoplasia of the corpus callosum	80232	WDR26	OMIM:617616
HP:0002079	Hypoplasia of the corpus callosum	89910	UBE3B	OMIM:244450
HP:0002079	Hypoplasia of the corpus callosum	80055	PGAP1	OMIM:615802
HP:0002079	Hypoplasia of the corpus callosum	9915	ARNT2	OMIM:615926
HP:0002079	Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620157
HP:0002079	Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620155
HP:0002079	Hypoplasia of the corpus callosum	57582	KCNT1	OMIM:614959
HP:0002079	Hypoplasia of the corpus callosum	55780	ERMARD	ORPHA:75857
HP:0002079	Hypoplasia of the corpus callosum	10978	CLP1	OMIM:615803
HP:0002079	Hypoplasia of the corpus callosum	26153	KIF26A	OMIM:620156
HP:0002079	Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615809
HP:0002079	Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615686
HP:0002079	Hypoplasia of the corpus callosum	25839	COG4	ORPHA:263501
HP:0002079	Hypoplasia of the corpus callosum	25839	COG4	OMIM:613489
HP:0002079	Hypoplasia of the corpus callosum	4001	LMNB1	OMIM:619179
HP:0002079	Hypoplasia of the corpus callosum	57492	ARID1B	OMIM:135900
HP:0002079	Hypoplasia of the corpus callosum	5119	CHMP1A	OMIM:614961
HP:0002079	Hypoplasia of the corpus callosum	55157	DARS2	ORPHA:137898
HP:0002079	Hypoplasia of the corpus callosum	10000	AKT3	OMIM:615937
HP:0002079	Hypoplasia of the corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0002079	Hypoplasia of the corpus callosum	11212	PLPBP	ORPHA:3006
HP:0002079	Hypoplasia of the corpus callosum	1717	DHCR7	OMIM:270400
HP:0002079	Hypoplasia of the corpus callosum	23116	TOGARAM1	OMIM:619185
HP:0002079	Hypoplasia of the corpus callosum	57531	HACE1	ORPHA:464282
HP:0002079	Hypoplasia of the corpus callosum	57531	HACE1	OMIM:616756
HP:0002079	Hypoplasia of the corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0002079	Hypoplasia of the corpus callosum	80856	LNPK	OMIM:618090
HP:0002079	Hypoplasia of the corpus callosum	26278	SACS	ORPHA:98
HP:0002079	Hypoplasia of the corpus callosum	1641	DCX	ORPHA:2148
HP:0002079	Hypoplasia of the corpus callosum	4338	MOCS2	OMIM:252160
HP:0002079	Hypoplasia of the corpus callosum	2752	GLUL	OMIM:610015
HP:0002079	Hypoplasia of the corpus callosum	25942	SIN3A	OMIM:613406
HP:0002079	Hypoplasia of the corpus callosum	9907	AP5Z1	OMIM:613647
HP:0002079	Hypoplasia of the corpus callosum	9907	AP5Z1	ORPHA:306511
HP:0002079	Hypoplasia of the corpus callosum	54496	PRMT7	ORPHA:464288
HP:0002079	Hypoplasia of the corpus callosum	23265	EXOC7	OMIM:619072
HP:0002079	Hypoplasia of the corpus callosum	9653	HS2ST1	OMIM:619194
HP:0002079	Hypoplasia of the corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0002079	Hypoplasia of the corpus callosum	7025	NR2F1	ORPHA:401777
HP:0002079	Hypoplasia of the corpus callosum	1267	CNP	OMIM:619071
HP:0002079	Hypoplasia of the corpus callosum	149371	EXOC8	OMIM:619076
HP:0002079	Hypoplasia of the corpus callosum	57498	KIDINS220	ORPHA:521390
HP:0002079	Hypoplasia of the corpus callosum	56006	SMG9	OMIM:616920
HP:0002079	Hypoplasia of the corpus callosum	27286	SRPX2	ORPHA:163721
HP:0002079	Hypoplasia of the corpus callosum	285175	UNC80	OMIM:616801
HP:0002079	Hypoplasia of the corpus callosum	285175	UNC80	ORPHA:371364
HP:0002079	Hypoplasia of the corpus callosum	79753	SNIP1	OMIM:614501
HP:0002079	Hypoplasia of the corpus callosum	54499	TMCO1	OMIM:213980
HP:0002079	Hypoplasia of the corpus callosum	54499	TMCO1	ORPHA:1394
HP:0002079	Hypoplasia of the corpus callosum	11128	POLR3A	ORPHA:447896
HP:0002079	Hypoplasia of the corpus callosum	11128	POLR3A	OMIM:607694
HP:0002079	Hypoplasia of the corpus callosum	10236	HNRNPR	OMIM:620073
HP:0002079	Hypoplasia of the corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0002079	Hypoplasia of the corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0002079	Hypoplasia of the corpus callosum	79813	EHMT1	ORPHA:261652
HP:0002079	Hypoplasia of the corpus callosum	58508	KMT2C	ORPHA:261652
HP:0002079	Hypoplasia of the corpus callosum	4094	MAF	ORPHA:1272
HP:0002079	Hypoplasia of the corpus callosum	5591	PRKDC	OMIM:615966
HP:0002079	Hypoplasia of the corpus callosum	6605	SMARCE1	OMIM:616938
HP:0002079	Hypoplasia of the corpus callosum	51244	CCDC174	OMIM:616816
HP:0002079	Hypoplasia of the corpus callosum	51322	WAC	ORPHA:284169
HP:0002079	Hypoplasia of the corpus callosum	51322	WAC	OMIM:616708
HP:0002079	Hypoplasia of the corpus callosum	4677	NARS1	OMIM:619091
HP:0002079	Hypoplasia of the corpus callosum	10735	STAG2	ORPHA:521258
HP:0002079	Hypoplasia of the corpus callosum	729920	CRPPA	OMIM:614643
HP:0002079	Hypoplasia of the corpus callosum	55275	VPS53	OMIM:615851
HP:0002079	Hypoplasia of the corpus callosum	80184	CEP290	OMIM:611134
HP:0002079	Hypoplasia of the corpus callosum	9928	KIF14	OMIM:617914
HP:0002079	Hypoplasia of the corpus callosum	57704	GBA2	OMIM:614409
HP:0002079	Hypoplasia of the corpus callosum	200403	VWA3B	OMIM:616948
HP:0002079	Hypoplasia of the corpus callosum	85021	REPS1	OMIM:617916
HP:0002079	Hypoplasia of the corpus callosum	85440	DOCK7	OMIM:615859
HP:0002079	Hypoplasia of the corpus callosum	85440	DOCK7	ORPHA:411986
HP:0002079	Hypoplasia of the corpus callosum	6509	SLC1A4	ORPHA:447997
HP:0002079	Hypoplasia of the corpus callosum	6509	SLC1A4	OMIM:616657
HP:0002079	Hypoplasia of the corpus callosum	9276	COPB2	OMIM:617800
HP:0002079	Hypoplasia of the corpus callosum	7407	VARS1	OMIM:617802
HP:0002079	Hypoplasia of the corpus callosum	57165	GJC2	OMIM:613206
HP:0002079	Hypoplasia of the corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	25939	SAMHD1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	103	ADAR	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	11277	TREX1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	134353	LSM11	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	64135	IFIH1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	7490	WT1	OMIM:106210
HP:0002079	Hypoplasia of the corpus callosum	5080	PAX6	OMIM:106210
HP:0002079	Hypoplasia of the corpus callosum	10075	HUWE1	OMIM:309590
HP:0002079	Hypoplasia of the corpus callosum	91949	COG7	OMIM:608779
HP:0002079	Hypoplasia of the corpus callosum	8243	SMC1A	OMIM:301044
HP:0002079	Hypoplasia of the corpus callosum	60529	ALX4	OMIM:613451
HP:0002079	Hypoplasia of the corpus callosum	124997	WDR81	OMIM:610185
HP:0002079	Hypoplasia of the corpus callosum	2290	FOXG1	OMIM:613454
HP:0002079	Hypoplasia of the corpus callosum	79848	CSPP1	OMIM:615636
HP:0002079	Hypoplasia of the corpus callosum	65062	TMEM237	OMIM:614424
HP:0002079	Hypoplasia of the corpus callosum	23028	KDM1A	OMIM:616728
HP:0002079	Hypoplasia of the corpus callosum	23028	KDM1A	ORPHA:477993
HP:0002079	Hypoplasia of the corpus callosum	6328	SCN3A	OMIM:617938
HP:0002079	Hypoplasia of the corpus callosum	8050	PDHX	ORPHA:255182
HP:0002079	Hypoplasia of the corpus callosum	55593	OTUD5	OMIM:301056
HP:0002079	Hypoplasia of the corpus callosum	6658	SOX3	ORPHA:67045
HP:0002079	Hypoplasia of the corpus callosum	79587	CARS2	ORPHA:477774
HP:0002079	Hypoplasia of the corpus callosum	79587	CARS2	OMIM:616672
HP:0002079	Hypoplasia of the corpus callosum	5859	QARS1	OMIM:615760
HP:0002079	Hypoplasia of the corpus callosum	113179	ADAT3	ORPHA:363528
HP:0002079	Hypoplasia of the corpus callosum	80347	COASY	OMIM:615643
HP:0002079	Hypoplasia of the corpus callosum	23291	FBXW11	OMIM:618914
HP:0002079	Hypoplasia of the corpus callosum	7280	TUBB2A	OMIM:615763
HP:0002079	Hypoplasia of the corpus callosum	998	CDC42	OMIM:616737
HP:0002079	Hypoplasia of the corpus callosum	998	CDC42	ORPHA:487796
HP:0002079	Hypoplasia of the corpus callosum	50	ACO2	OMIM:614559
HP:0002079	Hypoplasia of the corpus callosum	3097	HIVEP2	OMIM:616977
HP:0002079	Hypoplasia of the corpus callosum	10982	MAPRE2	OMIM:616734
HP:0002079	Hypoplasia of the corpus callosum	51218	GLRX5	OMIM:616859
HP:0002079	Hypoplasia of the corpus callosum	5053	PAH	ORPHA:2209
HP:0002079	Hypoplasia of the corpus callosum	4131	MAP1B	OMIM:618918
HP:0002079	Hypoplasia of the corpus callosum	5925	RB1	ORPHA:1587
HP:0002079	Hypoplasia of the corpus callosum	23511	NUP188	OMIM:618804
HP:0002079	Hypoplasia of the corpus callosum	6709	SPTAN1	OMIM:613477
HP:0002079	Hypoplasia of the corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0002079	Hypoplasia of the corpus callosum	3796	KIF2A	OMIM:615411
HP:0002079	Hypoplasia of the corpus callosum	2058	EPRS1	OMIM:617951
HP:0002079	Hypoplasia of the corpus callosum	27315	PGAP2	OMIM:614207
HP:0002079	Hypoplasia of the corpus callosum	80746	TSEN2	OMIM:612389
HP:0002079	Hypoplasia of the corpus callosum	80746	TSEN2	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0002079	Hypoplasia of the corpus callosum	5147	PDE6D	OMIM:615665
HP:0002079	Hypoplasia of the corpus callosum	57511	COG6	OMIM:614576
HP:0002079	Hypoplasia of the corpus callosum	2260	FGFR1	OMIM:613001
HP:0002079	Hypoplasia of the corpus callosum	23065	EMC1	OMIM:616875
HP:0002079	Hypoplasia of the corpus callosum	54664	TMEM106B	OMIM:617964
HP:0002079	Hypoplasia of the corpus callosum	128637	TBC1D20	OMIM:615663
HP:0002079	Hypoplasia of the corpus callosum	1729	DIAPH1	OMIM:616632
HP:0002079	Hypoplasia of the corpus callosum	2475	MTOR	OMIM:616638
HP:0002079	Hypoplasia of the corpus callosum	9419	CRIPT	OMIM:615789
HP:0002079	Hypoplasia of the corpus callosum	26227	PHGDH	ORPHA:79351
HP:0002079	Hypoplasia of the corpus callosum	55644	OSGEP	OMIM:617729
HP:0002079	Hypoplasia of the corpus callosum	7874	USP7	ORPHA:500055
HP:0002079	Hypoplasia of the corpus callosum	340075	ARSI	ORPHA:401815
HP:0002079	Hypoplasia of the corpus callosum	6812	STXBP1	OMIM:612164
HP:0002079	Hypoplasia of the corpus callosum	25782	RAB3GAP2	OMIM:614225
HP:0002079	Hypoplasia of the corpus callosum	22931	RAB18	OMIM:614222
HP:0002079	Hypoplasia of the corpus callosum	4337	MOCS1	OMIM:252150
HP:0002079	Hypoplasia of the corpus callosum	29957	SLC25A24	OMIM:612289
HP:0002079	Hypoplasia of the corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0002079	Hypoplasia of the corpus callosum	56270	WDR45B	OMIM:617977
HP:0002079	Hypoplasia of the corpus callosum	259232	NALCN	ORPHA:371364
HP:0002079	Hypoplasia of the corpus callosum	25914	RTTN	ORPHA:468631
HP:0002079	Hypoplasia of the corpus callosum	23556	PIGN	ORPHA:280633
HP:0002079	Hypoplasia of the corpus callosum	54880	BCOR	OMIM:300166
HP:0002079	Hypoplasia of the corpus callosum	5162	PDHB	ORPHA:255138
HP:0002079	Hypoplasia of the corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0002079	Hypoplasia of the corpus callosum	51124	IER3IP1	OMIM:614231
HP:0002079	Hypoplasia of the corpus callosum	283989	TSEN54	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	116461	TSEN15	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	79042	TSEN34	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	2893	GRIA4	OMIM:617864
HP:0002079	Hypoplasia of the corpus callosum	55704	CCDC88A	OMIM:617507
HP:0002079	Hypoplasia of the corpus callosum	54676	GTPBP2	OMIM:617988
HP:0002079	Hypoplasia of the corpus callosum	5296	PIK3R2	OMIM:603387
HP:0002079	Hypoplasia of the corpus callosum	259266	ASPM	OMIM:608716
HP:0002079	Hypoplasia of the corpus callosum	11154	AP4S1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	23431	AP4E1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	4841	NONO	ORPHA:466791
HP:0002079	Hypoplasia of the corpus callosum	4047	LSS	OMIM:618840
HP:0002079	Hypoplasia of the corpus callosum	5879	RAC1	OMIM:617751
HP:0002079	Hypoplasia of the corpus callosum	5879	RAC1	ORPHA:500159
HP:0002079	Hypoplasia of the corpus callosum	440	ASNS	OMIM:615574
HP:0002079	Hypoplasia of the corpus callosum	9786	KIAA0586	OMIM:616546
HP:0002079	Hypoplasia of the corpus callosum	5455	POU3F3	OMIM:618604
HP:0002079	Hypoplasia of the corpus callosum	133686	NADK2	ORPHA:431361
HP:0002079	Hypoplasia of the corpus callosum	738	VPS51	OMIM:618606
HP:0002079	Hypoplasia of the corpus callosum	5116	PCNT	ORPHA:2637
HP:0002079	Hypoplasia of the corpus callosum	2806	GOT2	OMIM:618721
HP:0002079	Hypoplasia of the corpus callosum	5430	POLR2A	OMIM:618603
HP:0002079	Hypoplasia of the corpus callosum	51663	ZFR	ORPHA:401840
HP:0002079	Hypoplasia of the corpus callosum	1468	SLC25A10	OMIM:618972
HP:0002079	Hypoplasia of the corpus callosum	1968	EIF2S3	OMIM:300148
HP:0002079	Hypoplasia of the corpus callosum	5307	PITX1	OMIM:119800
HP:0002079	Hypoplasia of the corpus callosum	51075	TMX2	OMIM:618730
HP:0002079	Hypoplasia of the corpus callosum	8884	SLC5A6	OMIM:618973
HP:0002079	Hypoplasia of the corpus callosum	7305	TYROBP	OMIM:221770
HP:0002079	Hypoplasia of the corpus callosum	55331	ACER3	OMIM:617762
HP:0002079	Hypoplasia of the corpus callosum	22978	NT5C2	OMIM:613162
HP:0002079	Hypoplasia of the corpus callosum	153241	CEP120	OMIM:617761
HP:0002079	Hypoplasia of the corpus callosum	4281	MID1	ORPHA:2745
HP:0002079	Hypoplasia of the corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0002079	Hypoplasia of the corpus callosum	4858	NOVA2	OMIM:618859
HP:0002079	Hypoplasia of the corpus callosum	84148	KAT8	OMIM:618974
HP:0002079	Hypoplasia of the corpus callosum	55753	OGDHL	OMIM:619701
HP:0002079	Hypoplasia of the corpus callosum	58499	ZNF462	OMIM:618619
HP:0002079	Hypoplasia of the corpus callosum	701	BUB1B	OMIM:257300
HP:0009238	Aplasia of the 5th finger	2697	GJA1	OMIM:186100
HP:0009238	Aplasia of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0009238	Aplasia of the 5th finger	9742	IFT140	OMIM:266920
HP:0009238	Aplasia of the 5th finger	6926	TBX3	OMIM:181450
HP:0009237	Short 5th finger	658	BMPR1B	OMIM:112600
HP:0009237	Short 5th finger	658	BMPR1B	OMIM:616849
HP:0009237	Short 5th finger	658	BMPR1B	ORPHA:93396
HP:0009237	Short 5th finger	8200	GDF5	OMIM:112600
HP:0009237	Short 5th finger	8200	GDF5	OMIM:615072
HP:0009237	Short 5th finger	8200	GDF5	ORPHA:63442
HP:0009237	Short 5th finger	8200	GDF5	ORPHA:93396
HP:0009237	Short 5th finger	8200	GDF5	OMIM:113100
HP:0009237	Short 5th finger	650	BMP2	OMIM:112600
HP:0009237	Short 5th finger	650	BMP2	ORPHA:93396
HP:0009237	Short 5th finger	4920	ROR2	OMIM:268310
HP:0009237	Short 5th finger	4613	MYCN	ORPHA:391641
HP:0009237	Short 5th finger	7021	TFAP2B	ORPHA:46627
HP:0009237	Short 5th finger	3481	IGF2	OMIM:180860
HP:0009237	Short 5th finger	51199	NIN	ORPHA:319675
HP:0009237	Short 5th finger	51199	NIN	OMIM:614851
HP:0009237	Short 5th finger	7474	WNT5A	OMIM:180700
HP:0009237	Short 5th finger	1855	DVL1	OMIM:180700
HP:0009237	Short 5th finger	9241	NOG	OMIM:186500
HP:0009237	Short 5th finger	22827	PUF60	ORPHA:508488
HP:0009237	Short 5th finger	3239	HOXD13	OMIM:186000
HP:0009237	Short 5th finger	3239	HOXD13	ORPHA:93409
HP:0009237	Short 5th finger	10847	SRCAP	OMIM:136140
HP:0009237	Short 5th finger	860	RUNX2	OMIM:119600
HP:0009237	Short 5th finger	860	RUNX2	OMIM:156510
HP:0009237	Short 5th finger	2623	GATA1	OMIM:190685
HP:0009237	Short 5th finger	2783	GNB2	OMIM:619503
HP:0009237	Short 5th finger	2697	GJA1	OMIM:164200
HP:0009237	Short 5th finger	5932	RBBP8	OMIM:251255
HP:0009237	Short 5th finger	1280	COL2A1	OMIM:271700
HP:0009237	Short 5th finger	10236	HNRNPR	OMIM:620073
HP:0009237	Short 5th finger	56992	KIF15	ORPHA:261323
HP:0009237	Short 5th finger	2245	FGD1	OMIM:305400
HP:0009237	Short 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0009237	Short 5th finger	5648	MASP1	OMIM:257920
HP:0009237	Short 5th finger	6597	SMARCA4	ORPHA:1465
HP:0009237	Short 5th finger	6597	SMARCA4	OMIM:614609
HP:0009237	Short 5th finger	6598	SMARCB1	ORPHA:1465
HP:0009237	Short 5th finger	6659	SOX4	ORPHA:1465
HP:0009237	Short 5th finger	8289	ARID1A	ORPHA:1465
HP:0009237	Short 5th finger	5977	DPF2	ORPHA:1465
HP:0009237	Short 5th finger	6601	SMARCC2	ORPHA:1465
HP:0009237	Short 5th finger	6602	SMARCD1	ORPHA:1465
HP:0009237	Short 5th finger	57492	ARID1B	ORPHA:1465
HP:0009237	Short 5th finger	196528	ARID2	ORPHA:1465
HP:0009237	Short 5th finger	6605	SMARCE1	ORPHA:1465
HP:0009237	Short 5th finger	6664	SOX11	ORPHA:1465
HP:0009237	Short 5th finger	5879	RAC1	ORPHA:500159
HP:0009237	Short 5th finger	91461	PKDCC	OMIM:618821
HP:0009237	Short 5th finger	3209	HOXA13	OMIM:140000
HP:0009237	Short 5th finger	3209	HOXA13	OMIM:176305
HP:0009237	Short 5th finger	9820	CUL7	OMIM:273750
HP:0009237	Short 5th finger	23363	OBSL1	OMIM:612921
HP:0009237	Short 5th finger	4848	CNOT2	OMIM:618608
HP:0009237	Short 5th finger	2778	GNAS	ORPHA:79445
HP:0009237	Short 5th finger	526	ATP6V1B2	ORPHA:79500
HP:0009237	Short 5th finger	57465	TBC1D24	ORPHA:79500
HP:0009237	Short 5th finger	57465	TBC1D24	OMIM:220500
HP:0009237	Short 5th finger	5286	PIK3C2A	ORPHA:557003
HP:0009237	Short 5th finger	6926	TBX3	OMIM:181450
HP:0009237	Short 5th finger	1327	COX4I1	OMIM:619060
HP:0009237	Short 5th finger	7750	ZMYM2	OMIM:619522
HP:0009237	Short 5th finger	4212	MEIS2	OMIM:600987
HP:0009237	Short 5th finger	9775	EIF4A3	OMIM:268305
HP:0009237	Short 5th finger	7403	KDM6A	OMIM:300867
HP:0009237	Short 5th finger	7403	KDM6A	ORPHA:2322
HP:0009237	Short 5th finger	7403	KDM6A	OMIM:147920
HP:0009237	Short 5th finger	1028	CDKN1C	ORPHA:397590
HP:0009237	Short 5th finger	5324	PLAG1	ORPHA:397590
HP:0009237	Short 5th finger	8091	HMGA2	ORPHA:397590
HP:0009237	Short 5th finger	8085	KMT2D	ORPHA:2322
HP:0009237	Short 5th finger	8085	KMT2D	OMIM:147920
HP:0009237	Short 5th finger	9126	SMC3	OMIM:610759
HP:0009237	Short 5th finger	4297	KMT2A	OMIM:605130
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	1280	COL2A1	OMIM:271700
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	57492	ARID1B	OMIM:135900
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0012293	Abnormal genital pigmentation	5728	PTEN	ORPHA:79076
HP:0012293	Abnormal genital pigmentation	657	BMPR1A	ORPHA:79076
HP:0012297	Slender proximal phalanx of finger	3835	KIF22	OMIM:603546
HP:0012299	Long distal phalanx of finger	3835	KIF22	OMIM:603546
HP:0012294	Abnormal occipital bone morphology	23019	CNOT1	OMIM:618500
HP:0012294	Abnormal occipital bone morphology	23019	CNOT1	ORPHA:556955
HP:0012294	Abnormal occipital bone morphology	28981	IFT81	OMIM:617895
HP:0012294	Abnormal occipital bone morphology	57061	HYMAI	ORPHA:96191
HP:0012294	Abnormal occipital bone morphology	5325	PLAGL1	ORPHA:96191
HP:0012294	Abnormal occipital bone morphology	56006	SMG9	OMIM:616920
HP:0012294	Abnormal occipital bone morphology	3265	HRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	3845	KRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	4893	NRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012294	Abnormal occipital bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0012294	Abnormal occipital bone morphology	1861	TOR1A	OMIM:618947
HP:0012294	Abnormal occipital bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0012294	Abnormal occipital bone morphology	57465	TBC1D24	ORPHA:79500
HP:0012294	Abnormal occipital bone morphology	2737	GLI3	ORPHA:36
HP:0012294	Abnormal occipital bone morphology	374654	KIF7	ORPHA:36
HP:0012294	Abnormal occipital bone morphology	374654	KIF7	OMIM:200990
HP:0012294	Abnormal occipital bone morphology	23556	PIGN	ORPHA:280633
HP:0012294	Abnormal occipital bone morphology	5649	RELN	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	10300	KATNB1	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	54820	NDE1	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	83737	ITCH	OMIM:613385
HP:0012294	Abnormal occipital bone morphology	83737	ITCH	ORPHA:228426
HP:0012294	Abnormal occipital bone morphology	10220	GDF11	OMIM:619122
HP:0012294	Abnormal occipital bone morphology	4849	CNOT3	OMIM:618672
HP:0012294	Abnormal occipital bone morphology	6911	TBX6	ORPHA:1797
HP:0012294	Abnormal occipital bone morphology	126792	B3GALT6	ORPHA:2725
HP:0012294	Abnormal occipital bone morphology	7841	MOGS	ORPHA:79330
HP:0012294	Abnormal occipital bone morphology	7841	MOGS	OMIM:606056
HP:0012294	Abnormal occipital bone morphology	57539	WDR35	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	112752	IFT43	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	51098	IFT52	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	55764	IFT122	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	57728	WDR19	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	9897	WASHC5	OMIM:220210
HP:0012294	Abnormal occipital bone morphology	9897	WASHC5	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	4784	NFIX	OMIM:602535
HP:0012294	Abnormal occipital bone morphology	1513	CTSK	OMIM:265800
HP:0012294	Abnormal occipital bone morphology	1028	CDKN1C	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	3481	IGF2	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	3784	KCNQ1	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	7021	TFAP2B	ORPHA:46627
HP:0012294	Abnormal occipital bone morphology	9968	MED12	ORPHA:93932
HP:0012294	Abnormal occipital bone morphology	134701	RIPPLY2	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	10683	DLL3	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	3955	LFNG	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	84667	HES7	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	145873	MESP2	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	1147	CHUK	OMIM:619339
HP:0012294	Abnormal occipital bone morphology	2317	FLNB	OMIM:108721
HP:0012294	Abnormal occipital bone morphology	23522	KAT6B	ORPHA:3047
HP:0012294	Abnormal occipital bone morphology	23522	KAT6B	OMIM:603736
HP:0012294	Abnormal occipital bone morphology	28952	CCDC22	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	538	ATP7A	ORPHA:565
HP:0012294	Abnormal occipital bone morphology	55553	SOX6	OMIM:618971
HP:0012294	Abnormal occipital bone morphology	8621	CDK13	OMIM:617360
HP:0012294	Abnormal occipital bone morphology	5277	PIGA	OMIM:300868
HP:0012294	Abnormal occipital bone morphology	2702	GJA5	OMIM:612474
HP:0012294	Abnormal occipital bone morphology	2703	GJA8	OMIM:612474
HP:0012294	Abnormal occipital bone morphology	4613	MYCN	OMIM:164280
HP:0012294	Abnormal occipital bone morphology	2316	FLNA	OMIM:311300
HP:0012294	Abnormal occipital bone morphology	2077	ERF	ORPHA:35093
HP:0012294	Abnormal occipital bone morphology	60529	ALX4	ORPHA:35093
HP:0012294	Abnormal occipital bone morphology	4853	NOTCH2	ORPHA:955
HP:0012294	Abnormal occipital bone morphology	11253	MAN1B1	ORPHA:397941
HP:0012294	Abnormal occipital bone morphology	11253	MAN1B1	OMIM:614202
HP:0012294	Abnormal occipital bone morphology	3590	IL11RA	OMIM:614188
HP:0012294	Abnormal occipital bone morphology	142680	SLC34A3	OMIM:241530
HP:0012294	Abnormal occipital bone morphology	1594	CYP27B1	ORPHA:289157
HP:0012294	Abnormal occipital bone morphology	1594	CYP27B1	OMIM:264700
HP:0012294	Abnormal occipital bone morphology	120227	CYP2R1	ORPHA:289157
HP:0012294	Abnormal occipital bone morphology	120227	CYP2R1	OMIM:600081
HP:0012294	Abnormal occipital bone morphology	51633	OTUD6B	OMIM:617452
HP:0012294	Abnormal occipital bone morphology	51633	OTUD6B	ORPHA:505237
HP:0012294	Abnormal occipital bone morphology	6228	RPS23	OMIM:617412
HP:0012294	Abnormal occipital bone morphology	23314	SATB2	ORPHA:251028
HP:0012294	Abnormal occipital bone morphology	3098	HK1	OMIM:618547
HP:0012294	Abnormal occipital bone morphology	84942	WDR73	OMIM:251300
HP:0012294	Abnormal occipital bone morphology	79813	EHMT1	ORPHA:96147
HP:0012294	Abnormal occipital bone morphology	23345	SYNE1	ORPHA:319332
HP:0012294	Abnormal occipital bone morphology	6638	SNRPN	OMIM:105830
HP:0012294	Abnormal occipital bone morphology	6638	SNRPN	ORPHA:177907
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	OMIM:105830
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	ORPHA:98794
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	ORPHA:411511
HP:0012294	Abnormal occipital bone morphology	5727	PTCH1	OMIM:610828
HP:0012294	Abnormal occipital bone morphology	6872	TAF1	OMIM:300966
HP:0012294	Abnormal occipital bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0012294	Abnormal occipital bone morphology	253959	RALGAPA1	OMIM:618797
HP:0012294	Abnormal occipital bone morphology	23067	SETD1B	OMIM:619000
HP:0012294	Abnormal occipital bone morphology	51506	UFC1	OMIM:618076
HP:0012294	Abnormal occipital bone morphology	55784	MCTP2	ORPHA:1596
HP:0012294	Abnormal occipital bone morphology	55670	PEX26	OMIM:614872
HP:0012294	Abnormal occipital bone morphology	55670	PEX26	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	2263	FGFR2	OMIM:123790
HP:0012294	Abnormal occipital bone morphology	7291	TWIST1	OMIM:617746
HP:0012294	Abnormal occipital bone morphology	4952	OCRL	ORPHA:534
HP:0012294	Abnormal occipital bone morphology	5189	PEX1	OMIM:214100
HP:0012294	Abnormal occipital bone morphology	5189	PEX1	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	158	ADSL	ORPHA:46
HP:0012294	Abnormal occipital bone morphology	4948	OCA2	ORPHA:98794
HP:0012294	Abnormal occipital bone morphology	10559	SLC35A1	OMIM:603585
HP:0012294	Abnormal occipital bone morphology	259266	ASPM	OMIM:608716
HP:0012294	Abnormal occipital bone morphology	8813	DPM1	OMIM:608799
HP:0012294	Abnormal occipital bone morphology	8813	DPM1	ORPHA:79322
HP:0012294	Abnormal occipital bone morphology	4125	MAN2B1	OMIM:248500
HP:0012294	Abnormal occipital bone morphology	10381	TUBB3	ORPHA:300570
HP:0012294	Abnormal occipital bone morphology	2146	EZH2	OMIM:277590
HP:0012294	Abnormal occipital bone morphology	5195	PEX14	OMIM:614887
HP:0012294	Abnormal occipital bone morphology	5195	PEX14	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	23592	LEMD3	ORPHA:1306
HP:0012294	Abnormal occipital bone morphology	8604	SLC25A12	OMIM:612949
HP:0012294	Abnormal occipital bone morphology	9896	FIG4	OMIM:216340
HP:0012294	Abnormal occipital bone morphology	129285	PPP1R21	OMIM:619383
HP:0012294	Abnormal occipital bone morphology	54968	TMEM70	OMIM:614052
HP:0012294	Abnormal occipital bone morphology	3832	KIF11	OMIM:152950
HP:0012294	Abnormal occipital bone morphology	7545	ZIC1	OMIM:618736
HP:0012294	Abnormal occipital bone morphology	7421	VDR	OMIM:277440
HP:0012294	Abnormal occipital bone morphology	3636	INPPL1	ORPHA:2746
HP:0012294	Abnormal occipital bone morphology	124512	METTL23	OMIM:615942
HP:0012294	Abnormal occipital bone morphology	89910	UBE3B	ORPHA:2707
HP:0012294	Abnormal occipital bone morphology	139285	AMER1	ORPHA:2780
HP:0012294	Abnormal occipital bone morphology	5824	PEX19	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5828	PEX2	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	8504	PEX3	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	8799	PEX11B	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	9409	PEX16	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5190	PEX6	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5830	PEX5	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5193	PEX12	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5194	PEX13	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5192	PEX10	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	55697	VAC14	ORPHA:3472
HP:0012294	Abnormal occipital bone morphology	25914	RTTN	ORPHA:468631
HP:0012296	Slender distal phalanx of finger	3835	KIF22	OMIM:603546
HP:0100649	Neoplasm of the oral cavity	5727	PTCH1	ORPHA:77301
HP:0100649	Neoplasm of the oral cavity	5727	PTCH1	OMIM:109400
HP:0100649	Neoplasm of the oral cavity	324	APC	OMIM:175100
HP:0100649	Neoplasm of the oral cavity	324	APC	ORPHA:247806
HP:0100649	Neoplasm of the oral cavity	324	APC	ORPHA:79665
HP:0100649	Neoplasm of the oral cavity	2248	FGF3	ORPHA:2791
HP:0100649	Neoplasm of the oral cavity	79659	DYNC2H1	OMIM:613091
HP:0100649	Neoplasm of the oral cavity	4123	MAN2C1	OMIM:619775
HP:0100649	Neoplasm of the oral cavity	65250	CPLANE1	OMIM:277170
HP:0100649	Neoplasm of the oral cavity	65250	CPLANE1	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	153241	CEP120	OMIM:616300
HP:0100649	Neoplasm of the oral cavity	84314	TMEM107	OMIM:617563
HP:0100649	Neoplasm of the oral cavity	4750	NEK1	OMIM:263520
HP:0100649	Neoplasm of the oral cavity	4750	NEK1	ORPHA:2751
HP:0100649	Neoplasm of the oral cavity	26005	C2CD3	ORPHA:434179
HP:0100649	Neoplasm of the oral cavity	26005	C2CD3	OMIM:615948
HP:0100649	Neoplasm of the oral cavity	9786	KIAA0586	OMIM:616546
HP:0100649	Neoplasm of the oral cavity	83479	DDX59	OMIM:174300
HP:0100649	Neoplasm of the oral cavity	27152	INTU	OMIM:617925
HP:0100649	Neoplasm of the oral cavity	8481	OFD1	OMIM:311200
HP:0100649	Neoplasm of the oral cavity	8481	OFD1	ORPHA:2750
HP:0100649	Neoplasm of the oral cavity	8481	OFD1	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	1906	EDN1	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	5332	PLCB4	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	2773	GNAI3	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	51057	WDPCP	OMIM:217085
HP:0100649	Neoplasm of the oral cavity	51057	WDPCP	ORPHA:1338
HP:0100649	Neoplasm of the oral cavity	79583	TMEM231	ORPHA:2752
HP:0100649	Neoplasm of the oral cavity	26123	TCTN3	OMIM:258860
HP:0100649	Neoplasm of the oral cavity	26123	TCTN3	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	10210	TOPORS	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	9851	KIAA0753	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	5147	PDE6D	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	51259	TMEM216	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	317662	FAM149B1	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	374654	KIF7	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	4194	MDM4	OMIM:618849
HP:0100649	Neoplasm of the oral cavity	55135	WRAP53	OMIM:613988
HP:0100649	Neoplasm of the oral cavity	89970	RSPRY1	ORPHA:457395
HP:0100649	Neoplasm of the oral cavity	4952	OCRL	ORPHA:534
HP:0100649	Neoplasm of the oral cavity	3339	HSPG2	ORPHA:800
HP:0100649	Neoplasm of the oral cavity	10804	GJB6	ORPHA:477
HP:0100649	Neoplasm of the oral cavity	2706	GJB2	ORPHA:477
HP:0100649	Neoplasm of the oral cavity	355	FAS	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	356	FASLG	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	5580	PRKCD	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	843	CASP10	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	10125	RASGRP1	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	8314	BAP1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	4771	NF2	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6598	SMARCB1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	5155	PDGFB	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	84231	TRAF7	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6608	SMO	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	207	AKT1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	5290	PIK3CA	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	7015	TERT	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	51684	SUFU	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6605	SMARCE1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	23522	KAT6B	ORPHA:3047
HP:0100649	Neoplasm of the oral cavity	4609	MYC	ORPHA:543
HP:0100649	Neoplasm of the oral cavity	4000	LMNA	ORPHA:79474
HP:0100649	Neoplasm of the oral cavity	7486	WRN	ORPHA:902
HP:0100649	Neoplasm of the oral cavity	5324	PLAG1	OMIM:181030
HP:0100649	Neoplasm of the oral cavity	4292	MLH1	ORPHA:587
HP:0100649	Neoplasm of the oral cavity	2956	MSH6	ORPHA:587
HP:0100649	Neoplasm of the oral cavity	4436	MSH2	ORPHA:587
HP:0002080	Intention tremor	10749	KIF1C	ORPHA:397946
HP:0002080	Intention tremor	773	CACNA1A	OMIM:183086
HP:0002080	Intention tremor	773	CACNA1A	ORPHA:98758
HP:0002080	Intention tremor	55703	POLR3B	OMIM:614381
HP:0002080	Intention tremor	9524	TECR	OMIM:614020
HP:0002080	Intention tremor	124997	WDR81	OMIM:610185
HP:0002080	Intention tremor	1161	ERCC8	ORPHA:90324
HP:0002080	Intention tremor	2074	ERCC6	ORPHA:90324
HP:0002080	Intention tremor	775	CACNA1C	OMIM:620029
HP:0002080	Intention tremor	5428	POLG	OMIM:258450
HP:0002080	Intention tremor	23600	AMACR	OMIM:614307
HP:0002080	Intention tremor	5457	POU4F1	ORPHA:314647
HP:0002080	Intention tremor	5457	POU4F1	OMIM:619352
HP:0002080	Intention tremor	23261	CAMTA1	ORPHA:314647
HP:0002080	Intention tremor	144165	PRICKLE1	ORPHA:308
HP:0002080	Intention tremor	1476	CSTB	ORPHA:308
HP:0002080	Intention tremor	950	SCARB2	ORPHA:308
HP:0002080	Intention tremor	950	SCARB2	OMIM:254900
HP:0002080	Intention tremor	85300	ATCAY	ORPHA:94122
HP:0002080	Intention tremor	85300	ATCAY	OMIM:601238
HP:0002080	Intention tremor	3708	ITPR1	ORPHA:208513
HP:0002080	Intention tremor	3708	ITPR1	OMIM:117360
HP:0002080	Intention tremor	6712	SPTBN2	ORPHA:352403
HP:0002080	Intention tremor	6712	SPTBN2	OMIM:600224
HP:0002080	Intention tremor	6712	SPTBN2	OMIM:615386
HP:0002080	Intention tremor	57165	GJC2	OMIM:608804
HP:0002080	Intention tremor	57165	GJC2	OMIM:613206
HP:0002080	Intention tremor	221496	LEMD2	OMIM:619322
HP:0002080	Intention tremor	440193	CCDC88C	OMIM:616053
HP:0002080	Intention tremor	440193	CCDC88C	ORPHA:423275
HP:0002080	Intention tremor	23114	NFASC	OMIM:618356
HP:0002080	Intention tremor	51506	UFC1	OMIM:618076
HP:0002080	Intention tremor	5917	RARS1	ORPHA:438114
HP:0002080	Intention tremor	5917	RARS1	OMIM:616140
HP:0002080	Intention tremor	472	ATM	OMIM:208900
HP:0002080	Intention tremor	10501	SEMA6B	OMIM:618876
HP:0002080	Intention tremor	26011	TENM4	OMIM:616736
HP:0002080	Intention tremor	3781	KCNN2	OMIM:619725
HP:0002080	Intention tremor	343641	TGM6	OMIM:613908
HP:0002080	Intention tremor	343641	TGM6	ORPHA:276193
HP:0002080	Intention tremor	410	ARSA	ORPHA:309271
HP:0002080	Intention tremor	410	ARSA	ORPHA:309263
HP:0002080	Intention tremor	5660	PSAP	ORPHA:309271
HP:0002080	Intention tremor	5660	PSAP	ORPHA:309263
HP:0002080	Intention tremor	5660	PSAP	OMIM:610539
HP:0002080	Intention tremor	7345	UCHL1	OMIM:615491
HP:0002080	Intention tremor	7345	UCHL1	OMIM:620221
HP:0002080	Intention tremor	3766	KCNJ10	OMIM:612780
HP:0002080	Intention tremor	2058	EPRS1	OMIM:617951
HP:0002080	Intention tremor	7436	VLDLR	OMIM:224050
HP:0002080	Intention tremor	267010	RNU12	OMIM:620208
HP:0002080	Intention tremor	267010	RNU12	ORPHA:512260
HP:0002080	Intention tremor	91137	SLC25A46	OMIM:616505
HP:0002080	Intention tremor	7080	NKX2-1	ORPHA:209905
HP:0002080	Intention tremor	2332	FMR1	ORPHA:93256
HP:0002080	Intention tremor	2332	FMR1	OMIM:300623
HP:0002080	Intention tremor	7276	TTR	OMIM:105210
HP:0002080	Intention tremor	22	ABCB7	OMIM:301310
HP:0002080	Intention tremor	26278	SACS	ORPHA:98
HP:0002080	Intention tremor	9445	ITM2B	OMIM:117300
HP:0002080	Intention tremor	54968	TMEM70	OMIM:614052
HP:0002080	Intention tremor	54664	TMEM106B	OMIM:617964
HP:0002080	Intention tremor	26090	ABHD12	OMIM:612674
HP:0002080	Intention tremor	2705	GJB1	ORPHA:1175
HP:0002080	Intention tremor	84668	HYCC1	OMIM:610532
HP:0002080	Intention tremor	27010	TPK1	OMIM:614458
HP:0002080	Intention tremor	492	ATP2B3	ORPHA:314978
HP:0002080	Intention tremor	492	ATP2B3	OMIM:302500
HP:0002080	Intention tremor	2395	FXN	ORPHA:95
HP:0002080	Intention tremor	6908	TBP	OMIM:607136
HP:0002080	Intention tremor	10528	NOP56	ORPHA:276198
HP:0002080	Intention tremor	5373	PMM2	OMIM:212065
HP:0002080	Intention tremor	50801	KCNK4	OMIM:618381
HP:0002080	Intention tremor	56006	SMG9	OMIM:619995
HP:0002080	Intention tremor	9150	CTDP1	ORPHA:48431
HP:0002080	Intention tremor	6711	SPTBN1	OMIM:619475
HP:0002080	Intention tremor	55280	CWF19L1	OMIM:616127
HP:0002080	Intention tremor	55280	CWF19L1	ORPHA:453521
HP:0002080	Intention tremor	4361	MRE11	ORPHA:251347
HP:0002080	Intention tremor	4983	OPHN1	ORPHA:137831
HP:0002080	Intention tremor	54499	TMCO1	OMIM:213980
HP:0002080	Intention tremor	11128	POLR3A	OMIM:264090
HP:0002080	Intention tremor	11128	POLR3A	ORPHA:447896
HP:0002080	Intention tremor	5293	PIK3CD	ORPHA:221139
HP:0002080	Intention tremor	90417	KNSTRN	ORPHA:221139
HP:0002080	Intention tremor	10908	PNPLA6	OMIM:215470
HP:0002080	Intention tremor	25814	ATXN10	ORPHA:98761
HP:0002080	Intention tremor	5521	PPP2R2B	ORPHA:98762
HP:0002080	Intention tremor	5728	PTEN	OMIM:158350
HP:0002080	Intention tremor	54870	QRICH1	OMIM:617982
HP:0002080	Intention tremor	5192	PEX10	OMIM:614871
HP:0002080	Intention tremor	81562	LMAN2L	OMIM:617863
HP:0002080	Intention tremor	3295	HSD17B4	OMIM:233400
HP:0002080	Intention tremor	6785	ELOVL4	OMIM:133190
HP:0002080	Intention tremor	10667	FARS2	ORPHA:466722
HP:0002080	Intention tremor	55129	ANO10	ORPHA:284289
HP:0002080	Intention tremor	55129	ANO10	OMIM:613728
HP:0002080	Intention tremor	5981	RFC1	ORPHA:504476
HP:0002080	Intention tremor	4841	NONO	ORPHA:466791
HP:0002080	Intention tremor	2937	GSS	OMIM:266130
HP:0002080	Intention tremor	5354	PLP1	OMIM:312080
HP:0002080	Intention tremor	9725	TMEM63A	OMIM:618688
HP:0002080	Intention tremor	404672	GTF2H5	ORPHA:33364
HP:0002080	Intention tremor	833	CARS1	ORPHA:33364
HP:0002080	Intention tremor	2068	ERCC2	ORPHA:33364
HP:0002080	Intention tremor	7737	RNF113A	ORPHA:33364
HP:0002080	Intention tremor	136647	MPLKIP	ORPHA:33364
HP:0002080	Intention tremor	6897	TARS1	ORPHA:33364
HP:0002080	Intention tremor	2071	ERCC3	ORPHA:33364
HP:0002080	Intention tremor	2961	GTF2E2	ORPHA:33364
HP:0002080	Intention tremor	200403	VWA3B	OMIM:616948
HP:0002080	Intention tremor	57410	SCYL1	ORPHA:466794
HP:0002080	Intention tremor	54936	ADPRS	OMIM:618170
HP:0002080	Intention tremor	25793	FBXO7	ORPHA:171695
HP:0002080	Intention tremor	6622	SNCA	ORPHA:171695
HP:0002080	Intention tremor	5290	PIK3CA	OMIM:615108
HP:0002080	Intention tremor	207	AKT1	OMIM:615109
HP:0002080	Intention tremor	339453	TMEM240	OMIM:607454
HP:0002080	Intention tremor	6342	SCP2	OMIM:613724
HP:0002080	Intention tremor	8398	PLA2G6	OMIM:610217
HP:0002080	Intention tremor	4001	LMNB1	ORPHA:99027
HP:0002080	Intention tremor	5297	PI4KA	OMIM:619708
HP:0002354	Memory impairment	3064	HTT	ORPHA:399
HP:0002354	Memory impairment	6515	SLC2A3	ORPHA:399
HP:0002354	Memory impairment	4558	MT-TF	ORPHA:550
HP:0002354	Memory impairment	4572	MT-TQ	ORPHA:550
HP:0002354	Memory impairment	4512	MT-CO1	ORPHA:550
HP:0002354	Memory impairment	4513	MT-CO2	ORPHA:550
HP:0002354	Memory impairment	4514	MT-CO3	ORPHA:550
HP:0002354	Memory impairment	4578	MT-TW	ORPHA:550
HP:0002354	Memory impairment	4540	MT-ND5	ORPHA:550
HP:0002354	Memory impairment	4541	MT-ND6	ORPHA:550
HP:0002354	Memory impairment	4535	MT-ND1	ORPHA:550
HP:0002354	Memory impairment	4538	MT-ND4	ORPHA:550
HP:0002354	Memory impairment	4567	MT-TL1	ORPHA:550
HP:0002354	Memory impairment	4574	MT-TS1	ORPHA:550
HP:0002354	Memory impairment	4575	MT-TS2	ORPHA:550
HP:0002354	Memory impairment	4564	MT-TH	ORPHA:550
HP:0002354	Memory impairment	4137	MAPT	OMIM:601104
HP:0002354	Memory impairment	4137	MAPT	ORPHA:240085
HP:0002354	Memory impairment	4137	MAPT	ORPHA:240103
HP:0002354	Memory impairment	4137	MAPT	ORPHA:275864
HP:0002354	Memory impairment	4137	MAPT	ORPHA:100070
HP:0002354	Memory impairment	6492	SIM1	ORPHA:369873
HP:0002354	Memory impairment	123606	NIPA1	ORPHA:261183
HP:0002354	Memory impairment	7283	TUBG1	ORPHA:261183
HP:0002354	Memory impairment	81614	NIPA2	ORPHA:261183
HP:0002354	Memory impairment	1786	DNMT1	ORPHA:314404
HP:0002354	Memory impairment	1786	DNMT1	OMIM:614116
HP:0002354	Memory impairment	1786	DNMT1	OMIM:604121
HP:0002354	Memory impairment	5457	POU4F1	ORPHA:314647
HP:0002354	Memory impairment	23261	CAMTA1	ORPHA:314647
HP:0002354	Memory impairment	51816	ADA2	ORPHA:820
HP:0002354	Memory impairment	6687	SPG7	ORPHA:99013
HP:0002354	Memory impairment	6687	SPG7	OMIM:607259
HP:0002354	Memory impairment	4072	EPCAM	ORPHA:144
HP:0002354	Memory impairment	4292	MLH1	ORPHA:144
HP:0002354	Memory impairment	5395	PMS2	ORPHA:144
HP:0002354	Memory impairment	27030	MLH3	ORPHA:144
HP:0002354	Memory impairment	22909	FAN1	ORPHA:144
HP:0002354	Memory impairment	7048	TGFBR2	ORPHA:144
HP:0002354	Memory impairment	3845	KRAS	ORPHA:144
HP:0002354	Memory impairment	5290	PIK3CA	ORPHA:144
HP:0002354	Memory impairment	5290	PIK3CA	ORPHA:2495
HP:0002354	Memory impairment	2956	MSH6	ORPHA:144
HP:0002354	Memory impairment	5378	PMS1	ORPHA:144
HP:0002354	Memory impairment	4436	MSH2	ORPHA:144
HP:0002354	Memory impairment	54209	TREM2	OMIM:618193
HP:0002354	Memory impairment	54209	TREM2	ORPHA:2770
HP:0002354	Memory impairment	54209	TREM2	ORPHA:1020
HP:0002354	Memory impairment	54209	TREM2	ORPHA:275864
HP:0002354	Memory impairment	54209	TREM2	ORPHA:100070
HP:0002354	Memory impairment	5155	PDGFB	OMIM:615483
HP:0002354	Memory impairment	5155	PDGFB	OMIM:213600
HP:0002354	Memory impairment	5155	PDGFB	ORPHA:2495
HP:0002354	Memory impairment	5575	PRKAR1B	ORPHA:412066
HP:0002354	Memory impairment	64218	SEMA4A	ORPHA:440437
HP:0002354	Memory impairment	657	BMPR1A	ORPHA:440437
HP:0002354	Memory impairment	6224	RPS20	ORPHA:440437
HP:0002354	Memory impairment	23600	AMACR	ORPHA:79095
HP:0002354	Memory impairment	4884	NPTX1	OMIM:620158
HP:0002354	Memory impairment	5053	PAH	ORPHA:79254
HP:0002354	Memory impairment	410	ARSA	ORPHA:309271
HP:0002354	Memory impairment	5660	PSAP	ORPHA:309271
HP:0002354	Memory impairment	84196	USP48	ORPHA:96253
HP:0002354	Memory impairment	7157	TP53	ORPHA:96253
HP:0002354	Memory impairment	9101	USP8	ORPHA:96253
HP:0002354	Memory impairment	64072	CDH23	ORPHA:96253
HP:0002354	Memory impairment	2908	NR3C1	ORPHA:96253
HP:0002354	Memory impairment	673	BRAF	ORPHA:96253
HP:0002354	Memory impairment	546	ATRX	ORPHA:96253
HP:0002354	Memory impairment	351	APP	ORPHA:324708
HP:0002354	Memory impairment	351	APP	ORPHA:1020
HP:0002354	Memory impairment	348	APOE	OMIM:607822
HP:0002354	Memory impairment	348	APOE	OMIM:606889
HP:0002354	Memory impairment	5663	PSEN1	OMIM:607822
HP:0002354	Memory impairment	5663	PSEN1	ORPHA:1020
HP:0002354	Memory impairment	5663	PSEN1	ORPHA:275864
HP:0002354	Memory impairment	5663	PSEN1	ORPHA:100070
HP:0002354	Memory impairment	215	ABCD1	ORPHA:139399
HP:0002354	Memory impairment	215	ABCD1	ORPHA:139396
HP:0002354	Memory impairment	9692	PRORP	OMIM:619737
HP:0002354	Memory impairment	6575	SLC20A2	OMIM:213600
HP:0002354	Memory impairment	5159	PDGFRB	OMIM:213600
HP:0002354	Memory impairment	1201	CLN3	ORPHA:228346
HP:0002354	Memory impairment	6843	VAMP1	OMIM:108600
HP:0002354	Memory impairment	6843	VAMP1	ORPHA:251282
HP:0002354	Memory impairment	3119	HLA-DQB1	OMIM:123400
HP:0002354	Memory impairment	5621	PRNP	OMIM:123400
HP:0002354	Memory impairment	5621	PRNP	OMIM:606688
HP:0002354	Memory impairment	5621	PRNP	ORPHA:157941
HP:0002354	Memory impairment	5621	PRNP	OMIM:137440
HP:0002354	Memory impairment	2332	FMR1	ORPHA:93256
HP:0002354	Memory impairment	2332	FMR1	OMIM:300623
HP:0002354	Memory impairment	5582	PRKCG	OMIM:605361
HP:0002354	Memory impairment	10347	ABCA7	OMIM:608907
HP:0002354	Memory impairment	10347	ABCA7	ORPHA:1020
HP:0002354	Memory impairment	80208	SPG11	ORPHA:2822
HP:0002354	Memory impairment	4287	ATXN3	ORPHA:276238
HP:0002354	Memory impairment	4287	ATXN3	ORPHA:276244
HP:0002354	Memory impairment	4287	ATXN3	ORPHA:276241
HP:0002354	Memory impairment	2903	GRIN2A	ORPHA:98818
HP:0002354	Memory impairment	57338	JPH3	ORPHA:98934
HP:0002354	Memory impairment	57338	JPH3	OMIM:606438
HP:0002354	Memory impairment	4763	NF1	ORPHA:97685
HP:0002354	Memory impairment	54658	UGT1A1	ORPHA:79234
HP:0002354	Memory impairment	4854	NOTCH3	OMIM:125310
HP:0002354	Memory impairment	4854	NOTCH3	ORPHA:136
HP:0002354	Memory impairment	7415	VCP	ORPHA:435387
HP:0002354	Memory impairment	7415	VCP	ORPHA:275864
HP:0002354	Memory impairment	7415	VCP	ORPHA:100070
HP:0002354	Memory impairment	5566	PRKACA	ORPHA:189439
HP:0002354	Memory impairment	8622	PDE8B	ORPHA:189439
HP:0002354	Memory impairment	5573	PRKAR1A	ORPHA:189439
HP:0002354	Memory impairment	50940	PDE11A	ORPHA:189439
HP:0002354	Memory impairment	8314	BAP1	ORPHA:2495
HP:0002354	Memory impairment	4771	NF2	ORPHA:2495
HP:0002354	Memory impairment	4771	NF2	ORPHA:637
HP:0002354	Memory impairment	6598	SMARCB1	ORPHA:2495
HP:0002354	Memory impairment	84231	TRAF7	ORPHA:2495
HP:0002354	Memory impairment	6608	SMO	ORPHA:2495
HP:0002354	Memory impairment	207	AKT1	ORPHA:2495
HP:0002354	Memory impairment	7015	TERT	ORPHA:2495
HP:0002354	Memory impairment	51684	SUFU	ORPHA:2495
HP:0002354	Memory impairment	6605	SMARCE1	ORPHA:2495
HP:0002354	Memory impairment	7305	TYROBP	ORPHA:2770
HP:0002354	Memory impairment	7305	TYROBP	OMIM:221770
HP:0002354	Memory impairment	2259	FGF14	ORPHA:98764
HP:0002354	Memory impairment	2896	GRN	OMIM:607485
HP:0002354	Memory impairment	2896	GRN	ORPHA:275864
HP:0002354	Memory impairment	2896	GRN	ORPHA:100070
HP:0002354	Memory impairment	5428	POLG	ORPHA:70595
HP:0002354	Memory impairment	56652	TWNK	ORPHA:70595
HP:0002354	Memory impairment	1822	ATN1	ORPHA:101
HP:0002354	Memory impairment	10939	AFG3L2	ORPHA:101109
HP:0002354	Memory impairment	9213	XPR1	OMIM:616413
HP:0002354	Memory impairment	79798	ARMC5	ORPHA:189427
HP:0002354	Memory impairment	2778	GNAS	ORPHA:189427
HP:0002354	Memory impairment	1356	CP	ORPHA:48818
HP:0002354	Memory impairment	57462	MYORG	OMIM:618317
HP:0002354	Memory impairment	6310	ATXN1	ORPHA:98755
HP:0002354	Memory impairment	25978	CHMP2B	OMIM:600795
HP:0002354	Memory impairment	25978	CHMP2B	ORPHA:275864
HP:0002354	Memory impairment	25978	CHMP2B	ORPHA:100070
HP:0002354	Memory impairment	1436	CSF1R	OMIM:221820
HP:0002354	Memory impairment	1540	CYLD	OMIM:619132
HP:0002354	Memory impairment	7072	TIA1	OMIM:619133
HP:0002354	Memory impairment	10273	STUB1	ORPHA:412057
HP:0002354	Memory impairment	10165	SLC25A13	ORPHA:247585
HP:0002354	Memory impairment	25974	MMACHC	ORPHA:79282
HP:0002354	Memory impairment	5664	PSEN2	ORPHA:1020
HP:0002354	Memory impairment	5664	PSEN2	OMIM:606889
HP:0002354	Memory impairment	10452	TOMM40	ORPHA:1020
HP:0002354	Memory impairment	6653	SORL1	ORPHA:1020
HP:0002354	Memory impairment	6683	SPAST	OMIM:182601
HP:0002354	Memory impairment	10020	GNE	ORPHA:3166
HP:0002354	Memory impairment	84188	FAR1	ORPHA:447753
HP:0002354	Memory impairment	5832	ALDH18A1	ORPHA:447753
HP:0002354	Memory impairment	1967	EIF2B1	OMIM:603896
HP:0002354	Memory impairment	197322	ACSF3	ORPHA:289504
HP:0002354	Memory impairment	4615	MYD88	ORPHA:33226
HP:0002354	Memory impairment	11277	TREX1	ORPHA:247691
HP:0002354	Memory impairment	51308	REEP2	ORPHA:401849
HP:0002354	Memory impairment	1893	ECM1	OMIM:247100
HP:0002354	Memory impairment	55367	PIDD1	OMIM:619827
HP:0002354	Memory impairment	54664	TMEM106B	ORPHA:275864
HP:0002354	Memory impairment	54664	TMEM106B	ORPHA:100070
HP:0002354	Memory impairment	8878	SQSTM1	ORPHA:275864
HP:0002354	Memory impairment	9570	GOSR2	OMIM:614018
HP:0002354	Memory impairment	3145	HMBS	ORPHA:79276
HP:0002354	Memory impairment	149233	IL23R	ORPHA:117
HP:0002354	Memory impairment	6775	STAT4	ORPHA:117
HP:0002354	Memory impairment	3586	IL10	ORPHA:117
HP:0002354	Memory impairment	4210	MEFV	ORPHA:117
HP:0002354	Memory impairment	1230	CCR1	ORPHA:117
HP:0002354	Memory impairment	355	FAS	ORPHA:117
HP:0002354	Memory impairment	3592	IL12A	ORPHA:117
HP:0002354	Memory impairment	101928376	IL12A-AS1	ORPHA:117
HP:0002354	Memory impairment	3106	HLA-B	ORPHA:117
HP:0002354	Memory impairment	7099	TLR4	ORPHA:117
HP:0002354	Memory impairment	3459	IFNGR1	ORPHA:117
HP:0002354	Memory impairment	720	C4A	ORPHA:117
HP:0002354	Memory impairment	337867	UBAC2	ORPHA:117
HP:0002354	Memory impairment	51752	ERAP1	ORPHA:117
HP:0002354	Memory impairment	8302	KLRC4	ORPHA:117
HP:0002354	Memory impairment	50484	RRM2B	ORPHA:329336
HP:0002354	Memory impairment	246243	RNASEH1	ORPHA:329336
HP:0002354	Memory impairment	2934	GSN	ORPHA:85448
HP:0002354	Memory impairment	4221	MEN1	ORPHA:97279
HP:0002354	Memory impairment	7528	YY1	ORPHA:97279
HP:0002354	Memory impairment	1512	CTSH	ORPHA:2073
HP:0002354	Memory impairment	5032	P2RY11	ORPHA:2073
HP:0002354	Memory impairment	4340	MOG	ORPHA:2073
HP:0002354	Memory impairment	3060	HCRT	ORPHA:2073
HP:0002354	Memory impairment	22891	ZNF365	ORPHA:2073
HP:0002354	Memory impairment	7292	TNFSF4	ORPHA:2073
HP:0002354	Memory impairment	3123	HLA-DRB1	ORPHA:2073
HP:0002354	Memory impairment	7274	TTPA	OMIM:277460
HP:0002083	Migraine without aura	1453	CSNK1D	OMIM:615224
HP:0002083	Migraine without aura	1909	EDNRA	OMIM:157300
HP:0002083	Migraine without aura	2099	ESR1	OMIM:157300
HP:0002083	Migraine without aura	7124	TNF	OMIM:157300
HP:0002083	Migraine without aura	773	CACNA1A	OMIM:183086
HP:0002083	Migraine without aura	338567	KCNK18	OMIM:613656
HP:0002083	Migraine without aura	11277	TREX1	ORPHA:247691
HP:0002084	Encephalocele	79600	TCTN1	ORPHA:475
HP:0002084	Encephalocele	79600	TCTN1	ORPHA:564
HP:0002084	Encephalocele	51684	SUFU	ORPHA:475
HP:0002084	Encephalocele	54806	AHI1	ORPHA:475
HP:0002084	Encephalocele	54806	AHI1	ORPHA:220493
HP:0002084	Encephalocele	153241	CEP120	ORPHA:475
HP:0002084	Encephalocele	153241	CEP120	ORPHA:220493
HP:0002084	Encephalocele	153241	CEP120	OMIM:616300
HP:0002084	Encephalocele	65250	CPLANE1	ORPHA:475
HP:0002084	Encephalocele	9731	CEP104	ORPHA:475
HP:0002084	Encephalocele	219844	HYLS1	ORPHA:475
HP:0002084	Encephalocele	23247	KATNIP	ORPHA:475
HP:0002084	Encephalocele	95681	CEP41	ORPHA:475
HP:0002084	Encephalocele	95681	CEP41	ORPHA:220493
HP:0002084	Encephalocele	10464	PIBF1	ORPHA:475
HP:0002084	Encephalocele	80210	ARMC9	ORPHA:475
HP:0002084	Encephalocele	23116	TOGARAM1	ORPHA:475
HP:0002084	Encephalocele	25776	CBY1	ORPHA:475
HP:0002084	Encephalocele	403	ARL3	ORPHA:475
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:475
HP:0002084	Encephalocele	65062	TMEM237	OMIM:614424
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:220497
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:2318
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:564
HP:0002084	Encephalocele	3769	KCNJ13	ORPHA:65
HP:0002084	Encephalocele	343035	RD3	ORPHA:65
HP:0002084	Encephalocele	145226	RDH12	ORPHA:65
HP:0002084	Encephalocele	1406	CRX	ORPHA:65
HP:0002084	Encephalocele	64802	NMNAT1	ORPHA:65
HP:0002084	Encephalocele	57096	RPGRIP1	ORPHA:65
HP:0002084	Encephalocele	57096	RPGRIP1	ORPHA:564
HP:0002084	Encephalocele	10383	TUBB4B	ORPHA:65
HP:0002084	Encephalocele	9742	IFT140	ORPHA:65
HP:0002084	Encephalocele	85015	USP45	ORPHA:65
HP:0002084	Encephalocele	6121	RPE65	ORPHA:65
HP:0002084	Encephalocele	23418	CRB1	ORPHA:65
HP:0002084	Encephalocele	5130	PCYT1A	ORPHA:65
HP:0002084	Encephalocele	9657	IQCB1	ORPHA:65
HP:0002084	Encephalocele	392255	GDF6	ORPHA:65
HP:0002084	Encephalocele	23746	AIPL1	ORPHA:65
HP:0002084	Encephalocele	3000	GUCY2D	ORPHA:65
HP:0002084	Encephalocele	9227	LRAT	ORPHA:65
HP:0002084	Encephalocele	55812	SPATA7	ORPHA:65
HP:0002084	Encephalocele	7287	TULP1	ORPHA:65
HP:0002084	Encephalocele	167691	LCA5	ORPHA:65
HP:0002084	Encephalocele	3614	IMPDH1	ORPHA:65
HP:0002084	Encephalocele	341640	FREM2	ORPHA:2052
HP:0002084	Encephalocele	80144	FRAS1	ORPHA:2052
HP:0002084	Encephalocele	80144	FRAS1	OMIM:219000
HP:0002084	Encephalocele	23426	GRIP1	ORPHA:2052
HP:0002084	Encephalocele	51524	TMEM138	OMIM:614465
HP:0002084	Encephalocele	51524	TMEM138	ORPHA:2318
HP:0002084	Encephalocele	57514	ARHGAP31	OMIM:100300
HP:0002084	Encephalocele	57514	ARHGAP31	ORPHA:974
HP:0002084	Encephalocele	51259	TMEM216	OMIM:608091
HP:0002084	Encephalocele	51259	TMEM216	OMIM:603194
HP:0002084	Encephalocele	51259	TMEM216	ORPHA:2318
HP:0002084	Encephalocele	51259	TMEM216	ORPHA:564
HP:0002084	Encephalocele	2261	FGFR3	ORPHA:93274
HP:0002084	Encephalocele	84172	POLR1B	ORPHA:861
HP:0002084	Encephalocele	9533	POLR1C	ORPHA:861
HP:0002084	Encephalocele	51082	POLR1D	ORPHA:861
HP:0002084	Encephalocele	6949	TCOF1	ORPHA:861
HP:0002084	Encephalocele	4867	NPHP1	ORPHA:220497
HP:0002084	Encephalocele	3516	RBPJ	ORPHA:974
HP:0002084	Encephalocele	4851	NOTCH1	ORPHA:974
HP:0002084	Encephalocele	57572	DOCK6	ORPHA:974
HP:0002084	Encephalocele	285203	EOGT	ORPHA:974
HP:0002084	Encephalocele	54567	DLL4	ORPHA:974
HP:0002084	Encephalocele	57688	ZSWIM6	OMIM:603671
HP:0002084	Encephalocele	57688	ZSWIM6	ORPHA:1827
HP:0002084	Encephalocele	729920	CRPPA	OMIM:614643
HP:0002084	Encephalocele	23090	ZNF423	ORPHA:2318
HP:0002084	Encephalocele	2317	FLNB	OMIM:108720
HP:0002084	Encephalocele	2260	FGFR1	ORPHA:2117
HP:0002084	Encephalocele	2316	FLNA	ORPHA:90652
HP:0002084	Encephalocele	3912	LAMB1	OMIM:615191
HP:0002084	Encephalocele	3912	LAMB1	ORPHA:352682
HP:0002084	Encephalocele	4488	MSX2	ORPHA:60015
HP:0002084	Encephalocele	60529	ALX4	ORPHA:60015
HP:0002084	Encephalocele	3339	HSPG2	OMIM:224410
HP:0002084	Encephalocele	79583	TMEM231	OMIM:615397
HP:0002084	Encephalocele	160418	TMTC3	OMIM:617255
HP:0002084	Encephalocele	57545	CC2D2A	OMIM:612284
HP:0002084	Encephalocele	57545	CC2D2A	ORPHA:1454
HP:0002084	Encephalocele	80184	CEP290	OMIM:610188
HP:0002084	Encephalocele	79848	CSPP1	OMIM:615636
HP:0002084	Encephalocele	79848	CSPP1	ORPHA:397715
HP:0002084	Encephalocele	6608	SMO	OMIM:241800
HP:0002084	Encephalocele	79770	TXNDC15	OMIM:619879
HP:0002084	Encephalocele	10992	SF3B2	OMIM:164210
HP:0002084	Encephalocele	27077	B9D1	OMIM:614209
HP:0002084	Encephalocele	91147	TMEM67	OMIM:607361
HP:0002084	Encephalocele	91147	TMEM67	OMIM:216360
HP:0002084	Encephalocele	91147	TMEM67	ORPHA:1454
HP:0002084	Encephalocele	3239	HOXD13	ORPHA:887
HP:0002084	Encephalocele	80781	COL18A1	OMIM:267750
HP:0002084	Encephalocele	80781	COL18A1	ORPHA:1571
HP:0002084	Encephalocele	9786	KIAA0586	ORPHA:397715
HP:0002084	Encephalocele	29925	GMPPB	ORPHA:370959
HP:0002084	Encephalocele	79147	FKRP	ORPHA:370959
HP:0002084	Encephalocele	79147	FKRP	OMIM:236670
HP:0002084	Encephalocele	29954	POMT2	ORPHA:370959
HP:0002084	Encephalocele	29954	POMT2	OMIM:236670
HP:0002084	Encephalocele	84197	POMK	ORPHA:370959
HP:0002084	Encephalocele	55624	POMGNT1	ORPHA:370959
HP:0002084	Encephalocele	10585	POMT1	ORPHA:370959
HP:0002084	Encephalocele	10585	POMT1	OMIM:236670
HP:0002084	Encephalocele	54903	MKS1	OMIM:249000
HP:0002084	Encephalocele	200894	ARL13B	OMIM:612291
HP:0002084	Encephalocele	11041	B4GAT1	OMIM:615287
HP:0002084	Encephalocele	219854	TMEM218	OMIM:619562
HP:0002084	Encephalocele	84314	TMEM107	OMIM:617562
HP:0002084	Encephalocele	80776	B9D2	OMIM:614175
HP:0002084	Encephalocele	23322	RPGRIP1L	OMIM:611561
HP:0002084	Encephalocele	23322	RPGRIP1L	ORPHA:1454
HP:0002084	Encephalocele	56623	INPP5E	ORPHA:1454
HP:0002084	Encephalocele	56603	CYP26B1	OMIM:614416
HP:0002084	Encephalocele	79867	TCTN2	OMIM:613885
HP:0002084	Encephalocele	5062	PAK2	ORPHA:1571
HP:0002084	Encephalocele	26123	TCTN3	OMIM:614815
HP:0002084	Encephalocele	26005	C2CD3	OMIM:615948
HP:0002084	Encephalocele	9215	LARGE1	OMIM:236670
HP:0002084	Encephalocele	2218	FKTN	OMIM:236670
HP:0002084	Encephalocele	257	ALX3	OMIM:136760
HP:0002084	Encephalocele	257	ALX3	ORPHA:391474
HP:0002084	Encephalocele	8092	ALX1	ORPHA:306542
HP:0002084	Encephalocele	28514	DLL1	ORPHA:280195
HP:0002084	Encephalocele	2253	FGF8	ORPHA:280195
HP:0002084	Encephalocele	6496	SIX3	ORPHA:280195
HP:0002084	Encephalocele	7050	TGIF1	ORPHA:280195
HP:0002084	Encephalocele	4838	NODAL	ORPHA:280195
HP:0002084	Encephalocele	6469	SHH	ORPHA:280195
HP:0002084	Encephalocele	7546	ZIC2	ORPHA:280195
HP:0002084	Encephalocele	6491	STIL	ORPHA:280195
HP:0002084	Encephalocele	2619	GAS1	ORPHA:280195
HP:0002084	Encephalocele	84976	DISP1	ORPHA:280195
HP:0002084	Encephalocele	2736	GLI2	ORPHA:280195
HP:0002084	Encephalocele	8928	FOXH1	ORPHA:280195
HP:0002084	Encephalocele	5727	PTCH1	ORPHA:280195
HP:0002084	Encephalocele	50937	CDON	ORPHA:280195
HP:0002084	Encephalocele	157570	ESCO2	OMIM:268300
HP:0002084	Encephalocele	30813	VSX1	OMIM:614195
HP:0002085	Occipital encephalocele	3912	LAMB1	OMIM:615191
HP:0002085	Occipital encephalocele	3912	LAMB1	ORPHA:352682
HP:0002085	Occipital encephalocele	4488	MSX2	ORPHA:60015
HP:0002085	Occipital encephalocele	60529	ALX4	ORPHA:60015
HP:0002085	Occipital encephalocele	3339	HSPG2	OMIM:224410
HP:0002085	Occipital encephalocele	79583	TMEM231	OMIM:615397
HP:0002085	Occipital encephalocele	160418	TMTC3	OMIM:617255
HP:0002085	Occipital encephalocele	57545	CC2D2A	OMIM:612284
HP:0002085	Occipital encephalocele	57545	CC2D2A	ORPHA:1454
HP:0002085	Occipital encephalocele	80184	CEP290	OMIM:610188
HP:0002085	Occipital encephalocele	79848	CSPP1	OMIM:615636
HP:0002085	Occipital encephalocele	79848	CSPP1	ORPHA:397715
HP:0002085	Occipital encephalocele	6608	SMO	OMIM:241800
HP:0002085	Occipital encephalocele	79770	TXNDC15	OMIM:619879
HP:0002085	Occipital encephalocele	10992	SF3B2	OMIM:164210
HP:0002085	Occipital encephalocele	27077	B9D1	OMIM:614209
HP:0002085	Occipital encephalocele	91147	TMEM67	OMIM:607361
HP:0002085	Occipital encephalocele	91147	TMEM67	OMIM:216360
HP:0002085	Occipital encephalocele	91147	TMEM67	ORPHA:1454
HP:0002085	Occipital encephalocele	3239	HOXD13	ORPHA:887
HP:0002085	Occipital encephalocele	80781	COL18A1	OMIM:267750
HP:0002085	Occipital encephalocele	80781	COL18A1	ORPHA:1571
HP:0002085	Occipital encephalocele	9786	KIAA0586	ORPHA:397715
HP:0002085	Occipital encephalocele	29925	GMPPB	ORPHA:370959
HP:0002085	Occipital encephalocele	79147	FKRP	ORPHA:370959
HP:0002085	Occipital encephalocele	79147	FKRP	OMIM:236670
HP:0002085	Occipital encephalocele	29954	POMT2	ORPHA:370959
HP:0002085	Occipital encephalocele	29954	POMT2	OMIM:236670
HP:0002085	Occipital encephalocele	84197	POMK	ORPHA:370959
HP:0002085	Occipital encephalocele	55624	POMGNT1	ORPHA:370959
HP:0002085	Occipital encephalocele	10585	POMT1	ORPHA:370959
HP:0002085	Occipital encephalocele	10585	POMT1	OMIM:236670
HP:0002085	Occipital encephalocele	54903	MKS1	OMIM:249000
HP:0002085	Occipital encephalocele	200894	ARL13B	OMIM:612291
HP:0002085	Occipital encephalocele	11041	B4GAT1	OMIM:615287
HP:0002085	Occipital encephalocele	219854	TMEM218	OMIM:619562
HP:0002085	Occipital encephalocele	84314	TMEM107	OMIM:617562
HP:0002085	Occipital encephalocele	80776	B9D2	OMIM:614175
HP:0002085	Occipital encephalocele	23322	RPGRIP1L	OMIM:611561
HP:0002085	Occipital encephalocele	23322	RPGRIP1L	ORPHA:1454
HP:0002085	Occipital encephalocele	56623	INPP5E	ORPHA:1454
HP:0002085	Occipital encephalocele	56603	CYP26B1	OMIM:614416
HP:0002085	Occipital encephalocele	79867	TCTN2	OMIM:613885
HP:0002085	Occipital encephalocele	5062	PAK2	ORPHA:1571
HP:0002085	Occipital encephalocele	26123	TCTN3	OMIM:614815
HP:0002085	Occipital encephalocele	26005	C2CD3	OMIM:615948
HP:0002085	Occipital encephalocele	9215	LARGE1	OMIM:236670
HP:0002085	Occipital encephalocele	2218	FKTN	OMIM:236670
HP:0002086	Abnormality of the respiratory system	2332	FMR1	ORPHA:908
HP:0002086	Abnormality of the respiratory system	5692	PSMB4	OMIM:617591
HP:0002086	Abnormality of the respiratory system	5698	PSMB9	OMIM:617591
HP:0002086	Abnormality of the respiratory system	3321	IGSF3	OMIM:149700
HP:0002086	Abnormality of the respiratory system	8106	PABPN1	ORPHA:270
HP:0002086	Abnormality of the respiratory system	63982	ANO3	ORPHA:420485
HP:0002086	Abnormality of the respiratory system	5447	POR	OMIM:201750
HP:0002086	Abnormality of the respiratory system	8493	PPM1D	OMIM:617450
HP:0002086	Abnormality of the respiratory system	104	ADARB1	OMIM:618862
HP:0002086	Abnormality of the respiratory system	6659	SOX4	OMIM:618506
HP:0002086	Abnormality of the respiratory system	91461	PKDCC	OMIM:618821
HP:0002086	Abnormality of the respiratory system	4897	NRCAM	OMIM:619833
HP:0002086	Abnormality of the respiratory system	10236	HNRNPR	OMIM:620073
HP:0002086	Abnormality of the respiratory system	91179	SCARF2	OMIM:600920
HP:0002086	Abnormality of the respiratory system	6857	SYT1	ORPHA:522077
HP:0002086	Abnormality of the respiratory system	3020	H3-3A	OMIM:619720
HP:0002086	Abnormality of the respiratory system	253959	RALGAPA1	OMIM:618797
HP:0002086	Abnormality of the respiratory system	3021	H3-3B	OMIM:619721
HP:0002086	Abnormality of the respiratory system	80816	ASXL3	OMIM:615485
HP:0002086	Abnormality of the respiratory system	1841	DTYMK	OMIM:619847
HP:0002086	Abnormality of the respiratory system	54496	PRMT7	OMIM:617157
HP:0002086	Abnormality of the respiratory system	54496	PRMT7	ORPHA:464288
HP:0002086	Abnormality of the respiratory system	3778	KCNMA1	OMIM:618729
HP:0002086	Abnormality of the respiratory system	157680	VPS13B	OMIM:216550
HP:0002086	Abnormality of the respiratory system	4212	MEIS2	ORPHA:261190
HP:0002086	Abnormality of the respiratory system	55612	FERMT1	ORPHA:2908
HP:0002086	Abnormality of the respiratory system	101929726	MYMX	ORPHA:1358
HP:0002086	Abnormality of the respiratory system	6926	TBX3	OMIM:181450
HP:0002086	Abnormality of the respiratory system	1062	CENPE	OMIM:616051
HP:0002086	Abnormality of the respiratory system	6885	MAP3K7	OMIM:617137
HP:0002086	Abnormality of the respiratory system	6885	MAP3K7	ORPHA:1826
HP:0002086	Abnormality of the respiratory system	79753	SNIP1	OMIM:614501
HP:0002086	Abnormality of the respiratory system	51199	NIN	ORPHA:319675
HP:0002086	Abnormality of the respiratory system	2697	GJA1	OMIM:218400
HP:0002086	Abnormality of the respiratory system	57167	SALL4	OMIM:607323
HP:0002086	Abnormality of the respiratory system	8626	TP63	OMIM:604292
HP:0002086	Abnormality of the respiratory system	2639	GCDH	ORPHA:25
HP:0002086	Abnormality of the respiratory system	23345	SYNE1	ORPHA:88644
HP:0002086	Abnormality of the respiratory system	7355	SLC35A2	ORPHA:356961
HP:0002086	Abnormality of the respiratory system	3815	KIT	ORPHA:98849
HP:0002086	Abnormality of the respiratory system	6427	SRSF2	ORPHA:98849
HP:0002086	Abnormality of the respiratory system	4758	NEU1	ORPHA:93399
HP:0002086	Abnormality of the respiratory system	5551	PRF1	ORPHA:540
HP:0002086	Abnormality of the respiratory system	8676	STX11	ORPHA:540
HP:0002086	Abnormality of the respiratory system	201294	UNC13D	ORPHA:540
HP:0002086	Abnormality of the respiratory system	6813	STXBP2	ORPHA:540
HP:0002086	Abnormality of the respiratory system	27125	AFF4	ORPHA:444077
HP:0002086	Abnormality of the respiratory system	11231	SEC63	ORPHA:2924
HP:0002086	Abnormality of the respiratory system	5589	PRKCSH	ORPHA:2924
HP:0002086	Abnormality of the respiratory system	4041	LRP5	ORPHA:2924
HP:0002086	Abnormality of the respiratory system	84196	USP48	ORPHA:96253
HP:0002086	Abnormality of the respiratory system	9101	USP8	ORPHA:96253
HP:0002086	Abnormality of the respiratory system	64072	CDH23	ORPHA:96253
HP:0002086	Abnormality of the respiratory system	2908	NR3C1	ORPHA:96253
HP:0002086	Abnormality of the respiratory system	1593	CYP27A1	ORPHA:909
HP:0002086	Abnormality of the respiratory system	10682	EBP	ORPHA:35173
HP:0002086	Abnormality of the respiratory system	4763	NF1	ORPHA:97685
HP:0002086	Abnormality of the respiratory system	28981	IFT81	OMIM:617895
HP:0002086	Abnormality of the respiratory system	8425	LTBP4	OMIM:613177
HP:0002086	Abnormality of the respiratory system	8195	MKKS	OMIM:236700
HP:0002086	Abnormality of the respiratory system	8854	ALDH1A2	OMIM:620025
HP:0002086	Abnormality of the respiratory system	10992	SF3B2	OMIM:164210
HP:0002086	Abnormality of the respiratory system	81839	VANGL1	ORPHA:3027
HP:0002086	Abnormality of the respiratory system	183	AGT	OMIM:267430
HP:0002086	Abnormality of the respiratory system	5972	REN	OMIM:267430
HP:0002086	Abnormality of the respiratory system	185	AGTR1	OMIM:267430
HP:0002086	Abnormality of the respiratory system	1636	ACE	OMIM:267430
HP:0002086	Abnormality of the respiratory system	57539	WDR35	ORPHA:93271
HP:0002086	Abnormality of the respiratory system	57539	WDR35	OMIM:614091
HP:0002086	Abnormality of the respiratory system	91754	NEK9	OMIM:617022
HP:0002086	Abnormality of the respiratory system	131377	KLHL40	ORPHA:171430
HP:0002086	Abnormality of the respiratory system	10324	KLHL41	ORPHA:171430
HP:0002086	Abnormality of the respiratory system	56203	LMOD3	ORPHA:171430
HP:0002086	Abnormality of the respiratory system	10229	COQ7	OMIM:616733
HP:0002086	Abnormality of the respiratory system	55784	MCTP2	ORPHA:1596
HP:0002086	Abnormality of the respiratory system	5915	RARB	OMIM:615524
HP:0002086	Abnormality of the respiratory system	5915	RARB	ORPHA:2470
HP:0002086	Abnormality of the respiratory system	5189	PEX1	OMIM:214100
HP:0002086	Abnormality of the respiratory system	56975	FAM20C	OMIM:259775
HP:0002086	Abnormality of the respiratory system	1146	CHRNG	OMIM:265000
HP:0002086	Abnormality of the respiratory system	1146	CHRNG	ORPHA:2990
HP:0002086	Abnormality of the respiratory system	1146	CHRNG	OMIM:253290
HP:0002086	Abnormality of the respiratory system	51132	RLIM	OMIM:300978
HP:0002086	Abnormality of the respiratory system	50814	NSDHL	OMIM:308050
HP:0002086	Abnormality of the respiratory system	51008	ASCC1	OMIM:616867
HP:0002086	Abnormality of the respiratory system	57211	ADGRG6	OMIM:616503
HP:0002086	Abnormality of the respiratory system	23414	ZFPM2	ORPHA:2140
HP:0002086	Abnormality of the respiratory system	5745	PTH1R	ORPHA:50945
HP:0002086	Abnormality of the respiratory system	23384	SPECC1L	OMIM:145420
HP:0002086	Abnormality of the respiratory system	27130	INVS	OMIM:602088
HP:0002086	Abnormality of the respiratory system	26040	SETBP1	ORPHA:798
HP:0002086	Abnormality of the respiratory system	29980	DONSON	OMIM:251230
HP:0002086	Abnormality of the respiratory system	26227	PHGDH	OMIM:256520
HP:0002086	Abnormality of the respiratory system	4927	NUP88	ORPHA:994
HP:0002086	Abnormality of the respiratory system	7846	TUBA1A	ORPHA:994
HP:0002086	Abnormality of the respiratory system	4654	MYOD1	ORPHA:994
HP:0002086	Abnormality of the respiratory system	4654	MYOD1	OMIM:618975
HP:0002086	Abnormality of the respiratory system	4593	MUSK	ORPHA:994
HP:0002086	Abnormality of the respiratory system	4593	MUSK	OMIM:208150
HP:0002086	Abnormality of the respiratory system	5913	RAPSN	ORPHA:994
HP:0002086	Abnormality of the respiratory system	285489	DOK7	ORPHA:994
HP:0002086	Abnormality of the respiratory system	1280	COL2A1	OMIM:151210
HP:0002086	Abnormality of the respiratory system	1280	COL2A1	ORPHA:85166
HP:0002086	Abnormality of the respiratory system	1280	COL2A1	ORPHA:93296
HP:0002086	Abnormality of the respiratory system	54880	BCOR	OMIM:309800
HP:0002086	Abnormality of the respiratory system	55165	CEP55	OMIM:236500
HP:0002086	Abnormality of the respiratory system	4716	NDUFB10	OMIM:619003
HP:0002086	Abnormality of the respiratory system	8318	CDC45	OMIM:617063
HP:0002086	Abnormality of the respiratory system	27031	NPHP3	OMIM:208540
HP:0002086	Abnormality of the respiratory system	27031	NPHP3	ORPHA:3032
HP:0002086	Abnormality of the respiratory system	163175	LGI4	OMIM:617468
HP:0002086	Abnormality of the respiratory system	745	MYRF	OMIM:618280
HP:0002086	Abnormality of the respiratory system	63895	PIEZO2	OMIM:248700
HP:0002086	Abnormality of the respiratory system	342035	GLDN	OMIM:617194
HP:0002086	Abnormality of the respiratory system	10269	ZMPSTE24	ORPHA:1662
HP:0002086	Abnormality of the respiratory system	10269	ZMPSTE24	OMIM:275210
HP:0002086	Abnormality of the respiratory system	10195	ALG3	ORPHA:79321
HP:0002086	Abnormality of the respiratory system	57505	AARS2	OMIM:614096
HP:0002086	Abnormality of the respiratory system	1496	CTNNA2	OMIM:618174
HP:0002086	Abnormality of the respiratory system	1144	CHRND	OMIM:253290
HP:0002086	Abnormality of the respiratory system	2108	ETFA	OMIM:231680
HP:0002086	Abnormality of the respiratory system	2109	ETFB	OMIM:231680
HP:0002086	Abnormality of the respiratory system	2110	ETFDH	OMIM:231680
HP:0002086	Abnormality of the respiratory system	168667	BMPER	OMIM:608022
HP:0002086	Abnormality of the respiratory system	3561	IL2RG	ORPHA:276
HP:0002086	Abnormality of the respiratory system	3561	IL2RG	OMIM:312863
HP:0002086	Abnormality of the respiratory system	3561	IL2RG	OMIM:300400
HP:0002086	Abnormality of the respiratory system	3561	IL2RG	ORPHA:39041
HP:0002086	Abnormality of the respiratory system	4125	MAN2B1	ORPHA:309282
HP:0002086	Abnormality of the respiratory system	4125	MAN2B1	ORPHA:309288
HP:0002086	Abnormality of the respiratory system	79631	EFL1	ORPHA:811
HP:0002086	Abnormality of the respiratory system	919	CD247	ORPHA:169160
HP:0002086	Abnormality of the respiratory system	6445	SGCG	OMIM:253700
HP:0002086	Abnormality of the respiratory system	8456	FOXN1	OMIM:618806
HP:0002086	Abnormality of the respiratory system	28962	OSTM1	ORPHA:85179
HP:0002086	Abnormality of the respiratory system	54914	FOCAD	OMIM:619991
HP:0002086	Abnormality of the respiratory system	3575	IL7R	ORPHA:39041
HP:0002086	Abnormality of the respiratory system	3575	IL7R	OMIM:608971
HP:0002086	Abnormality of the respiratory system	55343	SLC35C1	OMIM:266265
HP:0002086	Abnormality of the respiratory system	629	CFB	OMIM:615561
HP:0002086	Abnormality of the respiratory system	2215	FCGR3B	ORPHA:464370
HP:0002086	Abnormality of the respiratory system	5966	REL	OMIM:619652
HP:0002086	Abnormality of the respiratory system	25836	NIPBL	OMIM:122470
HP:0002086	Abnormality of the respiratory system	3594	IL12RB1	ORPHA:319552
HP:0002086	Abnormality of the respiratory system	5903	RANBP2	OMIM:608033
HP:0002086	Abnormality of the respiratory system	79912	PYROXD1	OMIM:617258
HP:0002086	Abnormality of the respiratory system	4568	MT-TL2	ORPHA:663
HP:0002086	Abnormality of the respiratory system	114548	NLRP3	ORPHA:575
HP:0002086	Abnormality of the respiratory system	2483	FRG1	OMIM:158900
HP:0002086	Abnormality of the respiratory system	80324	PUS1	OMIM:600462
HP:0002086	Abnormality of the respiratory system	2720	GLB1	OMIM:253010
HP:0002086	Abnormality of the respiratory system	1861	TOR1A	OMIM:618947
HP:0002086	Abnormality of the respiratory system	4038	LRP4	ORPHA:98913
HP:0002086	Abnormality of the respiratory system	221264	AK9	ORPHA:98913
HP:0002086	Abnormality of the respiratory system	23299	BICD2	OMIM:615290
HP:0002086	Abnormality of the respiratory system	2193	FARSA	OMIM:619013
HP:0002086	Abnormality of the respiratory system	54332	GDAP1	ORPHA:99948
HP:0002086	Abnormality of the respiratory system	9990	SLC12A6	OMIM:218000
HP:0002086	Abnormality of the respiratory system	7066	THPO	ORPHA:71493
HP:0002086	Abnormality of the respiratory system	4558	MT-TF	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4572	MT-TQ	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4512	MT-CO1	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4513	MT-CO2	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4514	MT-CO3	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4575	MT-TS2	ORPHA:550
HP:0002086	Abnormality of the respiratory system	4564	MT-TH	ORPHA:550
HP:0002086	Abnormality of the respiratory system	79717	PPCS	OMIM:618189
HP:0002086	Abnormality of the respiratory system	776	CACNA1D	OMIM:615474
HP:0002086	Abnormality of the respiratory system	776	CACNA1D	ORPHA:369929
HP:0002086	Abnormality of the respiratory system	81857	MED25	OMIM:616449
HP:0002086	Abnormality of the respiratory system	81857	MED25	ORPHA:464738
HP:0002086	Abnormality of the respiratory system	3875	KRT18	OMIM:215600
HP:0002086	Abnormality of the respiratory system	1277	COL1A1	OMIM:259420
HP:0002086	Abnormality of the respiratory system	411	ARSB	OMIM:253200
HP:0002086	Abnormality of the respiratory system	23395	LARS2	OMIM:617021
HP:0002086	Abnormality of the respiratory system	9382	COG1	ORPHA:263508
HP:0002086	Abnormality of the respiratory system	1340	COX6B1	OMIM:619051
HP:0002086	Abnormality of the respiratory system	1351	COX8A	OMIM:619059
HP:0002086	Abnormality of the respiratory system	79572	ATP13A3	OMIM:265400
HP:0002086	Abnormality of the respiratory system	9469	CHST3	OMIM:143095
HP:0002086	Abnormality of the respiratory system	55750	AGK	OMIM:212350
HP:0002086	Abnormality of the respiratory system	9377	COX5A	OMIM:619064
HP:0002086	Abnormality of the respiratory system	55697	VAC14	ORPHA:3472
HP:0002086	Abnormality of the respiratory system	5826	ABCD4	OMIM:614857
HP:0002086	Abnormality of the respiratory system	760	CA2	ORPHA:2785
HP:0002086	Abnormality of the respiratory system	7414	VCL	OMIM:613255
HP:0002086	Abnormality of the respiratory system	8517	IKBKG	ORPHA:464
HP:0002086	Abnormality of the respiratory system	3516	RBPJ	ORPHA:974
HP:0002086	Abnormality of the respiratory system	4851	NOTCH1	ORPHA:974
HP:0002086	Abnormality of the respiratory system	4851	NOTCH1	OMIM:616028
HP:0002086	Abnormality of the respiratory system	57572	DOCK6	ORPHA:974
HP:0002086	Abnormality of the respiratory system	285203	EOGT	ORPHA:974
HP:0002086	Abnormality of the respiratory system	54567	DLL4	ORPHA:974
HP:0002086	Abnormality of the respiratory system	6123	RPL3L	OMIM:619371
HP:0002086	Abnormality of the respiratory system	55901	THSD1	OMIM:620244
HP:0002086	Abnormality of the respiratory system	2542	SLC37A4	OMIM:232240
HP:0002086	Abnormality of the respiratory system	27247	NFU1	OMIM:605711
HP:0002086	Abnormality of the respiratory system	4093	SMAD9	OMIM:615342
HP:0002086	Abnormality of the respiratory system	51025	PAM16	OMIM:613320
HP:0002086	Abnormality of the respiratory system	23590	PDSS1	OMIM:614651
HP:0002086	Abnormality of the respiratory system	54938	SARS2	OMIM:613845
HP:0002086	Abnormality of the respiratory system	389827	MYMK	OMIM:254940
HP:0002086	Abnormality of the respiratory system	51103	NDUFAF1	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	4694	NDUFA1	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	4709	NDUFB3	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	80224	NUBPL	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	29078	NDUFAF4	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	4715	NDUFB9	ORPHA:2609
HP:0002086	Abnormality of the respiratory system	10046	MAMLD1	ORPHA:456328
HP:0002086	Abnormality of the respiratory system	29925	GMPPB	OMIM:615352
HP:0002086	Abnormality of the respiratory system	29925	GMPPB	ORPHA:370968
HP:0002086	Abnormality of the respiratory system	29925	GMPPB	ORPHA:363623
HP:0002086	Abnormality of the respiratory system	51569	UFM1	OMIM:617899
HP:0002086	Abnormality of the respiratory system	80308	FLAD1	OMIM:255100
HP:0002086	Abnormality of the respiratory system	3766	KCNJ10	ORPHA:705
HP:0002086	Abnormality of the respiratory system	2299	FOXI1	ORPHA:705
HP:0002086	Abnormality of the respiratory system	5172	SLC26A4	ORPHA:705
HP:0002086	Abnormality of the respiratory system	51	ACOX1	ORPHA:2971
HP:0002086	Abnormality of the respiratory system	79581	SLC52A2	OMIM:614707
HP:0002086	Abnormality of the respiratory system	57176	VARS2	OMIM:615917
HP:0002086	Abnormality of the respiratory system	1373	CPS1	ORPHA:147
HP:0002086	Abnormality of the respiratory system	2617	GARS1	OMIM:619042
HP:0002086	Abnormality of the respiratory system	1073	CFL2	ORPHA:171436
HP:0002086	Abnormality of the respiratory system	387787	LIPT2	OMIM:617668
HP:0002086	Abnormality of the respiratory system	1785	DNM2	OMIM:615368
HP:0002086	Abnormality of the respiratory system	1185	CLCN6	OMIM:619173
HP:0002086	Abnormality of the respiratory system	90	ACVR1	OMIM:135100
HP:0002086	Abnormality of the respiratory system	90	ACVR1	ORPHA:337
HP:0002086	Abnormality of the respiratory system	2273	FHL1	OMIM:300696
HP:0002086	Abnormality of the respiratory system	6023	RMRP	ORPHA:175
HP:0002086	Abnormality of the respiratory system	23321	TRIM2	OMIM:615490
HP:0002086	Abnormality of the respiratory system	5191	PEX7	OMIM:215100
HP:0002086	Abnormality of the respiratory system	5191	PEX7	ORPHA:773
HP:0002086	Abnormality of the respiratory system	54968	TMEM70	OMIM:614052
HP:0002086	Abnormality of the respiratory system	88	ACTN2	OMIM:618654
HP:0002086	Abnormality of the respiratory system	246243	RNASEH1	OMIM:616479
HP:0002086	Abnormality of the respiratory system	1302	COL11A2	ORPHA:2021
HP:0002086	Abnormality of the respiratory system	788	SLC25A20	ORPHA:159
HP:0002086	Abnormality of the respiratory system	9453	GGPS1	OMIM:619518
HP:0002086	Abnormality of the respiratory system	10290	SPEG	OMIM:615959
HP:0002086	Abnormality of the respiratory system	10290	SPEG	ORPHA:169186
HP:0002086	Abnormality of the respiratory system	493856	CISD2	ORPHA:3463
HP:0002086	Abnormality of the respiratory system	7466	WFS1	ORPHA:3463
HP:0002086	Abnormality of the respiratory system	7466	WFS1	ORPHA:411590
HP:0002086	Abnormality of the respiratory system	23396	PIP5K1C	OMIM:611369
HP:0002086	Abnormality of the respiratory system	259232	NALCN	OMIM:616266
HP:0002086	Abnormality of the respiratory system	56983	POGLUT1	OMIM:617232
HP:0002086	Abnormality of the respiratory system	125988	MICOS13	OMIM:618329
HP:0002086	Abnormality of the respiratory system	81846	SBF2	ORPHA:99956
HP:0002086	Abnormality of the respiratory system	5428	POLG	OMIM:607459
HP:0002086	Abnormality of the respiratory system	5428	POLG	ORPHA:254892
HP:0002086	Abnormality of the respiratory system	56652	TWNK	OMIM:607459
HP:0002086	Abnormality of the respiratory system	56652	TWNK	ORPHA:254892
HP:0002086	Abnormality of the respiratory system	51117	COQ4	OMIM:616276
HP:0002086	Abnormality of the respiratory system	57017	COQ9	OMIM:614654
HP:0002086	Abnormality of the respiratory system	10801	SEPTIN9	ORPHA:2901
HP:0002086	Abnormality of the respiratory system	58497	PRUNE1	ORPHA:544469
HP:0002086	Abnormality of the respiratory system	5081	PAX7	OMIM:618578
HP:0002086	Abnormality of the respiratory system	79628	SH3TC2	ORPHA:99949
HP:0002086	Abnormality of the respiratory system	55670	PEX26	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5824	PEX19	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5828	PEX2	ORPHA:912
HP:0002086	Abnormality of the respiratory system	8504	PEX3	ORPHA:912
HP:0002086	Abnormality of the respiratory system	8799	PEX11B	ORPHA:912
HP:0002086	Abnormality of the respiratory system	9409	PEX16	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5190	PEX6	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5193	PEX12	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5195	PEX14	ORPHA:912
HP:0002086	Abnormality of the respiratory system	5192	PEX10	ORPHA:912
HP:0002086	Abnormality of the respiratory system	274	BIN1	ORPHA:169186
HP:0002086	Abnormality of the respiratory system	11232	POLG2	ORPHA:254892
HP:0002086	Abnormality of the respiratory system	91949	COG7	OMIM:608779
HP:0002086	Abnormality of the respiratory system	5351	PLOD1	OMIM:225400
HP:0002086	Abnormality of the respiratory system	2879	GPX4	ORPHA:93317
HP:0002086	Abnormality of the respiratory system	203547	VMA21	OMIM:310440
HP:0002086	Abnormality of the respiratory system	1908	EDN3	ORPHA:661
HP:0002086	Abnormality of the respiratory system	2668	GDNF	ORPHA:661
HP:0002086	Abnormality of the respiratory system	627	BDNF	ORPHA:661
HP:0002086	Abnormality of the respiratory system	7707	ZNF148	OMIM:617260
HP:0002086	Abnormality of the respiratory system	26275	HIBCH	ORPHA:88639
HP:0002086	Abnormality of the respiratory system	91869	RFT1	OMIM:612015
HP:0002086	Abnormality of the respiratory system	1959	EGR2	OMIM:605253
HP:0002086	Abnormality of the respiratory system	79147	FKRP	ORPHA:370968
HP:0002086	Abnormality of the respiratory system	79147	FKRP	OMIM:613153
HP:0002086	Abnormality of the respiratory system	29954	POMT2	ORPHA:370968
HP:0002086	Abnormality of the respiratory system	29954	POMT2	OMIM:613156
HP:0002086	Abnormality of the respiratory system	9215	LARGE1	ORPHA:370968
HP:0002086	Abnormality of the respiratory system	134701	RIPPLY2	ORPHA:2311
HP:0002086	Abnormality of the respiratory system	3955	LFNG	ORPHA:2311
HP:0002086	Abnormality of the respiratory system	84667	HES7	ORPHA:2311
HP:0002086	Abnormality of the respiratory system	63931	MRPS14	OMIM:618378
HP:0002086	Abnormality of the respiratory system	9531	BAG3	OMIM:612954
HP:0002086	Abnormality of the respiratory system	7138	TNNT1	OMIM:605355
HP:0002086	Abnormality of the respiratory system	1756	DMD	ORPHA:98896
HP:0002086	Abnormality of the respiratory system	59336	PRDM13	OMIM:619909
HP:0002086	Abnormality of the respiratory system	3032	HADHB	ORPHA:746
HP:0002086	Abnormality of the respiratory system	3030	HADHA	ORPHA:746
HP:0002086	Abnormality of the respiratory system	3030	HADHA	OMIM:609015
HP:0002086	Abnormality of the respiratory system	2218	FKTN	OMIM:253800
HP:0002086	Abnormality of the respiratory system	5352	PLOD2	ORPHA:2771
HP:0002086	Abnormality of the respiratory system	60681	FKBP10	ORPHA:2771
HP:0002086	Abnormality of the respiratory system	29926	GMPPA	ORPHA:869
HP:0002086	Abnormality of the respiratory system	60684	TRAPPC11	ORPHA:869
HP:0002086	Abnormality of the respiratory system	8086	AAAS	ORPHA:869
HP:0002086	Abnormality of the respiratory system	246329	STAC3	ORPHA:168572
HP:0002086	Abnormality of the respiratory system	4604	MYBPC1	OMIM:614915
HP:0002086	Abnormality of the respiratory system	5264	PHYH	ORPHA:773
HP:0002086	Abnormality of the respiratory system	440	ASNS	OMIM:615574
HP:0002086	Abnormality of the respiratory system	200205	IBA57	OMIM:615330
HP:0002086	Abnormality of the respiratory system	23529	CLCF1	ORPHA:1545
HP:0002086	Abnormality of the respiratory system	5376	PMP22	ORPHA:640
HP:0002086	Abnormality of the respiratory system	54936	ADPRS	OMIM:618170
HP:0002086	Abnormality of the respiratory system	64087	MCCC2	ORPHA:6
HP:0002086	Abnormality of the respiratory system	5087	PBX1	OMIM:617641
HP:0002086	Abnormality of the respiratory system	51763	INPP5K	OMIM:617404
HP:0002086	Abnormality of the respiratory system	1140	CHRNB1	OMIM:616314
HP:0002086	Abnormality of the respiratory system	10535	RNASEH2A	OMIM:610333
HP:0002086	Abnormality of the respiratory system	23224	SYNE2	OMIM:612999
HP:0002086	Abnormality of the respiratory system	6786	STIM1	OMIM:160565
HP:0002086	Abnormality of the respiratory system	3763	KCNJ6	ORPHA:435628
HP:0002086	Abnormality of the respiratory system	51343	FZR1	OMIM:620145
HP:0002086	Abnormality of the respiratory system	1278	COL1A2	ORPHA:230851
HP:0002086	Abnormality of the respiratory system	1824	DSC2	OMIM:610476
HP:0002086	Abnormality of the respiratory system	57158	JPH2	OMIM:613873
HP:0002086	Abnormality of the respiratory system	25953	PNKD	ORPHA:98810
HP:0002086	Abnormality of the respiratory system	1621	DBH	ORPHA:230
HP:0002086	Abnormality of the respiratory system	1763	DNA2	OMIM:615156
HP:0002086	Abnormality of the respiratory system	23137	SMC5	OMIM:620185
HP:0002086	Abnormality of the respiratory system	92667	MGME1	ORPHA:352447
HP:0002086	Abnormality of the respiratory system	92667	MGME1	OMIM:615084
HP:0002086	Abnormality of the respiratory system	2778	GNAS	ORPHA:79443
HP:0002086	Abnormality of the respiratory system	2778	GNAS	ORPHA:79444
HP:0002086	Abnormality of the respiratory system	2778	GNAS	ORPHA:94089
HP:0002086	Abnormality of the respiratory system	23479	ISCU	OMIM:255125
HP:0002086	Abnormality of the respiratory system	4878	NPPA	OMIM:615745
HP:0002086	Abnormality of the respiratory system	4878	NPPA	ORPHA:1344
HP:0002086	Abnormality of the respiratory system	4054	LTBP3	OMIM:617809
HP:0002086	Abnormality of the respiratory system	2057	EPOR	ORPHA:90042
HP:0002086	Abnormality of the respiratory system	8675	STX16	ORPHA:94089
HP:0002086	Abnormality of the respiratory system	10102	TSFM	OMIM:610505
HP:0002086	Abnormality of the respiratory system	170302	ARX	OMIM:308350
HP:0002086	Abnormality of the respiratory system	10049	DNAJB6	OMIM:603511
HP:0002086	Abnormality of the respiratory system	57104	PNPLA2	ORPHA:565612
HP:0002086	Abnormality of the respiratory system	3949	LDLR	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	255738	PCSK9	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	26119	LDLRAP1	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	338	APOB	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	64240	ABCG5	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	64241	ABCG8	ORPHA:391665
HP:0002086	Abnormality of the respiratory system	5318	PKP2	OMIM:609040
HP:0002086	Abnormality of the respiratory system	291	SLC25A4	OMIM:615418
HP:0002086	Abnormality of the respiratory system	212	ALAS2	ORPHA:75563
HP:0002086	Abnormality of the respiratory system	55863	TMEM126B	OMIM:618250
HP:0002086	Abnormality of the respiratory system	112812	FDX2	OMIM:251900
HP:0002086	Abnormality of the respiratory system	9496	TBX4	ORPHA:261279
HP:0002086	Abnormality of the respiratory system	7134	TNNC1	OMIM:613243
HP:0002086	Abnormality of the respiratory system	54795	TRPM4	ORPHA:871
HP:0002086	Abnormality of the respiratory system	6324	SCN1B	ORPHA:871
HP:0002086	Abnormality of the respiratory system	11222	MRPL3	OMIM:614582
HP:0002086	Abnormality of the respiratory system	57570	TRMT5	OMIM:616539
HP:0002086	Abnormality of the respiratory system	54800	KLHL24	OMIM:620236
HP:0002086	Abnormality of the respiratory system	50485	SMARCAL1	OMIM:242900
HP:0002086	Abnormality of the respiratory system	100151683	RNU4ATAC	ORPHA:2636
HP:0002086	Abnormality of the respiratory system	8815	BANF1	OMIM:614008
HP:0002086	Abnormality of the respiratory system	5236	PGM1	OMIM:614921
HP:0002086	Abnormality of the respiratory system	51778	MYOZ2	OMIM:613838
HP:0002086	Abnormality of the respiratory system	1829	DSG2	OMIM:612877
HP:0002086	Abnormality of the respiratory system	399	RHOH	OMIM:618307
HP:0002086	Abnormality of the respiratory system	10056	FARSB	OMIM:613658
HP:0002086	Abnormality of the respiratory system	6651	SON	ORPHA:500150
HP:0002086	Abnormality of the respiratory system	9131	AIFM1	ORPHA:238329
HP:0002086	Abnormality of the respiratory system	4702	NDUFA8	OMIM:619272
HP:0002086	Abnormality of the respiratory system	4594	MMUT	ORPHA:289916
HP:0002086	Abnormality of the respiratory system	4594	MMUT	ORPHA:79312
HP:0002086	Abnormality of the respiratory system	4594	MMUT	OMIM:251000
HP:0002086	Abnormality of the respiratory system	57128	LYRM4	OMIM:615595
HP:0002086	Abnormality of the respiratory system	4574	MT-TS1	OMIM:220110
HP:0002086	Abnormality of the respiratory system	4570	MT-TN	OMIM:220110
HP:0002086	Abnormality of the respiratory system	55503	TRPV6	OMIM:618188
HP:0002086	Abnormality of the respiratory system	201595	STT3B	OMIM:615597
HP:0002086	Abnormality of the respiratory system	201595	STT3B	ORPHA:370924
HP:0002086	Abnormality of the respiratory system	4137	MAPT	ORPHA:240085
HP:0002086	Abnormality of the respiratory system	4137	MAPT	ORPHA:240103
HP:0002086	Abnormality of the respiratory system	84466	MEGF10	OMIM:614399
HP:0002086	Abnormality of the respiratory system	1896	EDA	OMIM:305100
HP:0002086	Abnormality of the respiratory system	9570	GOSR2	OMIM:620166
HP:0002086	Abnormality of the respiratory system	388962	BOLA3	OMIM:614299
HP:0002086	Abnormality of the respiratory system	6234	RPS28	OMIM:606164
HP:0002086	Abnormality of the respiratory system	4607	MYBPC3	OMIM:115197
HP:0002086	Abnormality of the respiratory system	51660	MPC1	OMIM:614741
HP:0002086	Abnormality of the respiratory system	166785	MMAA	OMIM:251100
HP:0002086	Abnormality of the respiratory system	51098	IFT52	OMIM:617102
HP:0002086	Abnormality of the respiratory system	6231	RPS26	OMIM:613309
HP:0002086	Abnormality of the respiratory system	5373	PMM2	ORPHA:79318
HP:0002086	Abnormality of the respiratory system	8813	DPM1	OMIM:608799
HP:0002086	Abnormality of the respiratory system	22906	TRAK1	OMIM:618201
HP:0002086	Abnormality of the respiratory system	9147	NEMF	OMIM:619099
HP:0002086	Abnormality of the respiratory system	162417	NAGS	ORPHA:927
HP:0002086	Abnormality of the respiratory system	162417	NAGS	OMIM:237310
HP:0002086	Abnormality of the respiratory system	55681	SCYL2	ORPHA:1143
HP:0002086	Abnormality of the respiratory system	84570	COL25A1	ORPHA:1143
HP:0002086	Abnormality of the respiratory system	57222	ERGIC1	ORPHA:1143
HP:0002086	Abnormality of the respiratory system	51067	YARS2	OMIM:613561
HP:0002086	Abnormality of the respiratory system	1188	CLCNKB	ORPHA:358
HP:0002086	Abnormality of the respiratory system	6559	SLC12A3	ORPHA:358
HP:0002086	Abnormality of the respiratory system	7167	TPI1	OMIM:615512
HP:0002086	Abnormality of the respiratory system	5250	SLC25A3	ORPHA:91130
HP:0002086	Abnormality of the respiratory system	112	ADCY6	ORPHA:2680
HP:0002086	Abnormality of the respiratory system	8506	CNTNAP1	ORPHA:2680
HP:0002086	Abnormality of the respiratory system	5649	RELN	ORPHA:89844
HP:0002086	Abnormality of the respiratory system	10300	KATNB1	ORPHA:89844
HP:0002086	Abnormality of the respiratory system	54820	NDE1	ORPHA:89844
HP:0002086	Abnormality of the respiratory system	51119	SBDS	OMIM:260400
HP:0002086	Abnormality of the respiratory system	134218	DNAJC21	OMIM:260400
HP:0002086	Abnormality of the respiratory system	54931	TRMT10C	OMIM:616974
HP:0002086	Abnormality of the respiratory system	27185	DISC1	ORPHA:171703
HP:0002086	Abnormality of the respiratory system	8320	EOMES	ORPHA:171703
HP:0002086	Abnormality of the respiratory system	11093	ADAMTS13	OMIM:274150
HP:0002086	Abnormality of the respiratory system	3736	KCNA1	ORPHA:37612
HP:0002086	Abnormality of the respiratory system	1760	DMPK	OMIM:160900
HP:0002086	Abnormality of the respiratory system	3417	IDH1	ORPHA:99646
HP:0002086	Abnormality of the respiratory system	1145	CHRNE	OMIM:605809
HP:0002086	Abnormality of the respiratory system	6777	STAT5B	OMIM:245590
HP:0002086	Abnormality of the respiratory system	4998	ORC1	OMIM:224690
HP:0002086	Abnormality of the respiratory system	4998	ORC1	ORPHA:2554
HP:0002086	Abnormality of the respiratory system	7019	TFAM	OMIM:617156
HP:0002086	Abnormality of the respiratory system	4358	MPV17	OMIM:256810
HP:0002086	Abnormality of the respiratory system	3141	HLCS	ORPHA:79242
HP:0002086	Abnormality of the respiratory system	81620	CDT1	ORPHA:2554
HP:0002086	Abnormality of the respiratory system	5000	ORC4	ORPHA:2554
HP:0002086	Abnormality of the respiratory system	23594	ORC6	ORPHA:2554
HP:0002086	Abnormality of the respiratory system	990	CDC6	ORPHA:2554
HP:0002086	Abnormality of the respiratory system	54539	NDUFB11	ORPHA:2556
HP:0002086	Abnormality of the respiratory system	1349	COX7B	ORPHA:2556
HP:0002086	Abnormality of the respiratory system	3052	HCCS	ORPHA:2556
HP:0002086	Abnormality of the respiratory system	3868	KRT16	ORPHA:2309
HP:0002086	Abnormality of the respiratory system	3872	KRT17	ORPHA:2309
HP:0002086	Abnormality of the respiratory system	3853	KRT6A	ORPHA:2309
HP:0002086	Abnormality of the respiratory system	3854	KRT6B	ORPHA:2309
HP:0002086	Abnormality of the respiratory system	9343	EFTUD2	OMIM:610536
HP:0002086	Abnormality of the respiratory system	326625	MMAB	OMIM:251110
HP:0002086	Abnormality of the respiratory system	55975	KLHL7	OMIM:617055
HP:0002086	Abnormality of the respiratory system	5167	ENPP1	ORPHA:51608
HP:0002086	Abnormality of the respiratory system	10382	TUBB4A	ORPHA:98805
HP:0002086	Abnormality of the respiratory system	56270	WDR45B	OMIM:617977
HP:0002086	Abnormality of the respiratory system	526	ATP6V1B2	ORPHA:79500
HP:0002086	Abnormality of the respiratory system	57465	TBC1D24	ORPHA:79500
HP:0002086	Abnormality of the respiratory system	10585	POMT1	ORPHA:86812
HP:0002086	Abnormality of the respiratory system	8292	COLQ	ORPHA:98915
HP:0002086	Abnormality of the respiratory system	3913	LAMB2	ORPHA:98915
HP:0002086	Abnormality of the respiratory system	6748	SSR4	OMIM:300934
HP:0002086	Abnormality of the respiratory system	2581	GALC	ORPHA:206436
HP:0002086	Abnormality of the respiratory system	50484	RRM2B	OMIM:612075
HP:0002086	Abnormality of the respiratory system	35	ACADS	ORPHA:26792
HP:0002086	Abnormality of the respiratory system	8449	DHX16	OMIM:618733
HP:0002086	Abnormality of the respiratory system	11342	RNF13	ORPHA:544503
HP:0002086	Abnormality of the respiratory system	871	SERPINH1	OMIM:613848
HP:0002086	Abnormality of the respiratory system	6584	SLC22A5	OMIM:212140
HP:0002086	Abnormality of the respiratory system	2811	GP1BA	ORPHA:274
HP:0002086	Abnormality of the respiratory system	2815	GP9	ORPHA:274
HP:0002086	Abnormality of the respiratory system	10999	SLC27A4	OMIM:608649
HP:0002086	Abnormality of the respiratory system	9578	CDC42BPB	OMIM:619841
HP:0002086	Abnormality of the respiratory system	4010	LMX1B	ORPHA:495818
HP:0002086	Abnormality of the respiratory system	6812	STXBP1	ORPHA:495818
HP:0002086	Abnormality of the respiratory system	2782	GNB1	OMIM:616973
HP:0002086	Abnormality of the respiratory system	4953	ODC1	ORPHA:544488
HP:0002086	Abnormality of the respiratory system	3716	JAK1	OMIM:618999
HP:0002086	Abnormality of the respiratory system	28514	DLL1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	2253	FGF8	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	6496	SIX3	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	7050	TGIF1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	4838	NODAL	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	6469	SHH	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	7546	ZIC2	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	2619	GAS1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	84976	DISP1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	2736	GLI2	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	8928	FOXH1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	5727	PTCH1	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	50937	CDON	ORPHA:280200
HP:0002086	Abnormality of the respiratory system	57589	RIC1	OMIM:618761
HP:0002086	Abnormality of the respiratory system	3566	IL4R	OMIM:147050
HP:0002086	Abnormality of the respiratory system	2206	MS4A2	OMIM:147050
HP:0002086	Abnormality of the respiratory system	84100	ARL6	OMIM:209900
HP:0002086	Abnormality of the respiratory system	79140	CCDC28B	OMIM:209900
HP:0002086	Abnormality of the respiratory system	582	BBS1	OMIM:209900
HP:0002086	Abnormality of the respiratory system	51428	DDX41	OMIM:616871
HP:0002086	Abnormality of the respiratory system	2475	MTOR	ORPHA:457485
HP:0002086	Abnormality of the respiratory system	93627	TBCK	ORPHA:488632
HP:0002086	Abnormality of the respiratory system	6785	ELOVL4	OMIM:614457
HP:0002086	Abnormality of the respiratory system	84701	COX4I2	OMIM:612714
HP:0002086	Abnormality of the respiratory system	54888	NSUN2	ORPHA:235
HP:0002086	Abnormality of the respiratory system	7874	USP7	ORPHA:500055
HP:0002086	Abnormality of the respiratory system	2312	FLG	OMIM:146700
HP:0002086	Abnormality of the respiratory system	1041	CDSN	OMIM:270300
HP:0002086	Abnormality of the respiratory system	374879	ZNF699	OMIM:619488
HP:0002086	Abnormality of the respiratory system	5971	RELB	OMIM:617585
HP:0002086	Abnormality of the respiratory system	3481	IGF2	ORPHA:397590
HP:0002086	Abnormality of the respiratory system	1028	CDKN1C	ORPHA:397590
HP:0002086	Abnormality of the respiratory system	5324	PLAG1	ORPHA:397590
HP:0002086	Abnormality of the respiratory system	8091	HMGA2	ORPHA:397590
HP:0002086	Abnormality of the respiratory system	55717	WDR11	OMIM:620237
HP:0002086	Abnormality of the respiratory system	23387	SIK3	OMIM:618162
HP:0002086	Abnormality of the respiratory system	55898	UNC45A	OMIM:619377
HP:0002086	Abnormality of the respiratory system	3423	IDS	OMIM:309900
HP:0002086	Abnormality of the respiratory system	79977	GRHL2	OMIM:616029
HP:0002086	Abnormality of the respiratory system	100	ADA	OMIM:102700
HP:0002086	Abnormality of the respiratory system	2678	GGT1	OMIM:231950
HP:0002086	Abnormality of the respiratory system	375056	MIA3	OMIM:619269
HP:0002086	Abnormality of the respiratory system	721	C4B	OMIM:614379
HP:0002086	Abnormality of the respiratory system	6888	TALDO1	OMIM:606003
HP:0002086	Abnormality of the respiratory system	3476	IGBP1	OMIM:300472
HP:0002086	Abnormality of the respiratory system	79848	CSPP1	ORPHA:397715
HP:0002086	Abnormality of the respiratory system	9786	KIAA0586	ORPHA:397715
HP:0002086	Abnormality of the respiratory system	4914	NTRK1	ORPHA:642
HP:0002086	Abnormality of the respiratory system	4784	NFIX	OMIM:602535
HP:0002086	Abnormality of the respiratory system	23556	PIGN	ORPHA:280633
HP:0002086	Abnormality of the respiratory system	2629	GBA1	OMIM:230900
HP:0002086	Abnormality of the respiratory system	535	ATP6V0A1	OMIM:619971
HP:0002086	Abnormality of the respiratory system	4281	MID1	ORPHA:2745
HP:0002086	Abnormality of the respiratory system	29957	SLC25A24	OMIM:612289
HP:0002086	Abnormality of the respiratory system	7994	KAT6A	OMIM:616268
HP:0002086	Abnormality of the respiratory system	9361	LONP1	ORPHA:79243
HP:0002086	Abnormality of the respiratory system	5160	PDHA1	ORPHA:79243
HP:0002086	Abnormality of the respiratory system	3431	SP110	ORPHA:79124
HP:0002086	Abnormality of the respiratory system	378884	NHLRC1	ORPHA:501
HP:0002086	Abnormality of the respiratory system	7957	EPM2A	ORPHA:501
HP:0002086	Abnormality of the respiratory system	3119	HLA-DQB1	ORPHA:930
HP:0002086	Abnormality of the respiratory system	9244	CRLF1	ORPHA:930
HP:0002086	Abnormality of the respiratory system	3117	HLA-DQA1	ORPHA:930
HP:0002086	Abnormality of the respiratory system	4842	NOS1	ORPHA:930
HP:0002086	Abnormality of the respiratory system	90417	KNSTRN	ORPHA:221139
HP:0002086	Abnormality of the respiratory system	10755	GIPC1	ORPHA:98897
HP:0002086	Abnormality of the respiratory system	100996717	NOTCH2NLC	ORPHA:98897
HP:0002086	Abnormality of the respiratory system	8085	KMT2D	OMIM:147920
HP:0002086	Abnormality of the respiratory system	7403	KDM6A	OMIM:147920
HP:0002086	Abnormality of the respiratory system	3930	LBR	OMIM:215140
HP:0002086	Abnormality of the respiratory system	2737	GLI3	ORPHA:672
HP:0002086	Abnormality of the respiratory system	2737	GLI3	OMIM:146510
HP:0002086	Abnormality of the respiratory system	341640	FREM2	ORPHA:2052
HP:0002086	Abnormality of the respiratory system	80144	FRAS1	ORPHA:2052
HP:0002086	Abnormality of the respiratory system	23426	GRIP1	ORPHA:2052
HP:0002086	Abnormality of the respiratory system	23426	GRIP1	OMIM:617667
HP:0002086	Abnormality of the respiratory system	2187	FANCB	OMIM:300514
HP:0002086	Abnormality of the respiratory system	51604	PIGT	ORPHA:369837
HP:0002086	Abnormality of the respiratory system	284086	NEK8	OMIM:615415
HP:0002086	Abnormality of the respiratory system	219844	HYLS1	OMIM:236680
HP:0002086	Abnormality of the respiratory system	5728	PTEN	ORPHA:744
HP:0002086	Abnormality of the respiratory system	22827	PUF60	ORPHA:508488
HP:0002086	Abnormality of the respiratory system	1717	DHCR7	OMIM:270400
HP:0002086	Abnormality of the respiratory system	1717	DHCR7	ORPHA:818
HP:0002086	Abnormality of the respiratory system	79796	ALG9	ORPHA:79328
HP:0002086	Abnormality of the respiratory system	79796	ALG9	OMIM:263210
HP:0002086	Abnormality of the respiratory system	9184	BUB3	ORPHA:1052
HP:0002086	Abnormality of the respiratory system	699	BUB1	ORPHA:1052
HP:0002086	Abnormality of the respiratory system	9702	CEP57	ORPHA:1052
HP:0002086	Abnormality of the respiratory system	9702	CEP57	OMIM:614114
HP:0002086	Abnormality of the respiratory system	9319	TRIP13	ORPHA:1052
HP:0002086	Abnormality of the respiratory system	701	BUB1B	ORPHA:1052
HP:0002086	Abnormality of the respiratory system	10436	EMG1	ORPHA:1270
HP:0002086	Abnormality of the respiratory system	2719	GPC3	OMIM:312870
HP:0002086	Abnormality of the respiratory system	2239	GPC4	OMIM:312870
HP:0002086	Abnormality of the respiratory system	4210	MEFV	ORPHA:342
HP:0002086	Abnormality of the respiratory system	4210	MEFV	OMIM:249100
HP:0002086	Abnormality of the respiratory system	4210	MEFV	OMIM:134610
HP:0002086	Abnormality of the respiratory system	4210	MEFV	ORPHA:117
HP:0002086	Abnormality of the respiratory system	64127	NOD2	OMIM:617321
HP:0002086	Abnormality of the respiratory system	2212	FCGR2A	OMIM:152700
HP:0002086	Abnormality of the respiratory system	2213	FCGR2B	OMIM:152700
HP:0002086	Abnormality of the respiratory system	11277	TREX1	OMIM:152700
HP:0002086	Abnormality of the respiratory system	1773	DNASE1	OMIM:152700
HP:0002086	Abnormality of the respiratory system	10216	PRG4	ORPHA:2848
HP:0002086	Abnormality of the respiratory system	7132	TNFRSF1A	OMIM:142680
HP:0002086	Abnormality of the respiratory system	7132	TNFRSF1A	ORPHA:32960
HP:0002086	Abnormality of the respiratory system	3662	IRF4	ORPHA:3452
HP:0002086	Abnormality of the respiratory system	149233	IL23R	ORPHA:117
HP:0002086	Abnormality of the respiratory system	6775	STAT4	ORPHA:117
HP:0002086	Abnormality of the respiratory system	3586	IL10	ORPHA:117
HP:0002086	Abnormality of the respiratory system	1230	CCR1	ORPHA:117
HP:0002086	Abnormality of the respiratory system	355	FAS	ORPHA:117
HP:0002086	Abnormality of the respiratory system	3592	IL12A	ORPHA:117
HP:0002086	Abnormality of the respiratory system	101928376	IL12A-AS1	ORPHA:117
HP:0002086	Abnormality of the respiratory system	3106	HLA-B	ORPHA:117
HP:0002086	Abnormality of the respiratory system	7099	TLR4	ORPHA:117
HP:0002086	Abnormality of the respiratory system	3459	IFNGR1	ORPHA:117
HP:0002086	Abnormality of the respiratory system	720	C4A	ORPHA:117
HP:0002086	Abnormality of the respiratory system	337867	UBAC2	ORPHA:117
HP:0002086	Abnormality of the respiratory system	51752	ERAP1	ORPHA:117
HP:0002086	Abnormality of the respiratory system	8302	KLRC4	ORPHA:117
HP:0002086	Abnormality of the respiratory system	3123	HLA-DRB1	ORPHA:397
HP:0002086	Abnormality of the respiratory system	3123	HLA-DRB1	ORPHA:797
HP:0002086	Abnormality of the respiratory system	8974	P4HA2	ORPHA:397
HP:0002086	Abnormality of the respiratory system	940	CD28	ORPHA:3162
HP:0002086	Abnormality of the respiratory system	7133	TNFRSF1B	ORPHA:3162
HP:0002086	Abnormality of the respiratory system	10320	IKZF1	ORPHA:36426
HP:0002086	Abnormality of the respiratory system	27238	GPKOW	ORPHA:2570
HP:0002086	Abnormality of the respiratory system	8518	ELP1	ORPHA:1764
HP:0002086	Abnormality of the respiratory system	201163	FLCN	ORPHA:2903
HP:0002086	Abnormality of the respiratory system	56244	BTNL2	ORPHA:797
HP:0002086	Abnormality of the respiratory system	3155	HMGCL	ORPHA:20
HP:0002086	Abnormality of the respiratory system	4524	MTHFR	ORPHA:395
HP:0002086	Abnormality of the respiratory system	4728	NDUFS8	OMIM:618222
HP:0002086	Abnormality of the respiratory system	4728	NDUFS8	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	51422	PRKAG2	OMIM:261740
HP:0002086	Abnormality of the respiratory system	9759	HDAC4	OMIM:619797
HP:0002086	Abnormality of the respiratory system	4723	NDUFV1	OMIM:618225
HP:0002086	Abnormality of the respiratory system	4723	NDUFV1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	590	BCHE	OMIM:617936
HP:0002086	Abnormality of the respiratory system	4719	NDUFS1	OMIM:618226
HP:0002086	Abnormality of the respiratory system	4719	NDUFS1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	1798	DPAGT1	OMIM:608093
HP:0002086	Abnormality of the respiratory system	95	ACY1	ORPHA:137754
HP:0002086	Abnormality of the respiratory system	4720	NDUFS2	OMIM:618228
HP:0002086	Abnormality of the respiratory system	4720	NDUFS2	ORPHA:70474
HP:0002086	Abnormality of the respiratory system	4720	NDUFS2	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	53616	ADAM22	OMIM:617933
HP:0002086	Abnormality of the respiratory system	6334	SCN8A	ORPHA:306
HP:0002086	Abnormality of the respiratory system	6326	SCN2A	ORPHA:306
HP:0002086	Abnormality of the respiratory system	6326	SCN2A	OMIM:607745
HP:0002086	Abnormality of the respiratory system	112476	PRRT2	ORPHA:306
HP:0002086	Abnormality of the respiratory system	3785	KCNQ2	ORPHA:306
HP:0002086	Abnormality of the respiratory system	3785	KCNQ2	ORPHA:1949
HP:0002086	Abnormality of the respiratory system	3785	KCNQ2	ORPHA:439218
HP:0002086	Abnormality of the respiratory system	3786	KCNQ3	ORPHA:306
HP:0002086	Abnormality of the respiratory system	3786	KCNQ3	ORPHA:1949
HP:0002086	Abnormality of the respiratory system	4703	NEB	OMIM:256030
HP:0002086	Abnormality of the respiratory system	5830	PEX5	OMIM:214110
HP:0002086	Abnormality of the respiratory system	256297	PTF1A	OMIM:609069
HP:0002086	Abnormality of the respiratory system	7259	TSPYL1	OMIM:608800
HP:0002086	Abnormality of the respiratory system	91942	NDUFAF2	OMIM:618233
HP:0002086	Abnormality of the respiratory system	91942	NDUFAF2	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	6341	SCO1	OMIM:619048
HP:0002086	Abnormality of the respiratory system	249	ALPL	OMIM:241500
HP:0002086	Abnormality of the respiratory system	4695	NDUFA2	OMIM:618235
HP:0002086	Abnormality of the respiratory system	4695	NDUFA2	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	126328	NDUFA11	OMIM:618236
HP:0002086	Abnormality of the respiratory system	6536	SLC6A9	OMIM:617301
HP:0002086	Abnormality of the respiratory system	23322	RPGRIP1L	ORPHA:220497
HP:0002086	Abnormality of the respiratory system	23322	RPGRIP1L	ORPHA:1454
HP:0002086	Abnormality of the respiratory system	4867	NPHP1	ORPHA:220497
HP:0002086	Abnormality of the respiratory system	65062	TMEM237	ORPHA:220497
HP:0002086	Abnormality of the respiratory system	65062	TMEM237	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	65062	TMEM237	ORPHA:475
HP:0002086	Abnormality of the respiratory system	54806	AHI1	ORPHA:220493
HP:0002086	Abnormality of the respiratory system	54806	AHI1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	56623	INPP5E	ORPHA:220493
HP:0002086	Abnormality of the respiratory system	56623	INPP5E	ORPHA:1454
HP:0002086	Abnormality of the respiratory system	56623	INPP5E	ORPHA:475
HP:0002086	Abnormality of the respiratory system	54903	MKS1	ORPHA:220493
HP:0002086	Abnormality of the respiratory system	54903	MKS1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	95681	CEP41	ORPHA:220493
HP:0002086	Abnormality of the respiratory system	95681	CEP41	ORPHA:475
HP:0002086	Abnormality of the respiratory system	29968	PSAT1	OMIM:610992
HP:0002086	Abnormality of the respiratory system	6662	SOX9	OMIM:114290
HP:0002086	Abnormality of the respiratory system	1644	DDC	OMIM:608643
HP:0002086	Abnormality of the respiratory system	1410	CRYAB	OMIM:613869
HP:0002086	Abnormality of the respiratory system	5105	PCK1	OMIM:261680
HP:0002086	Abnormality of the respiratory system	55906	ZC4H2	OMIM:314580
HP:0002086	Abnormality of the respiratory system	816	CAMK2B	OMIM:617799
HP:0002086	Abnormality of the respiratory system	6773	STAT2	OMIM:618886
HP:0002086	Abnormality of the respiratory system	114034	TOE1	OMIM:614969
HP:0002086	Abnormality of the respiratory system	1509	CTSD	OMIM:610127
HP:0002086	Abnormality of the respiratory system	54675	CRLS1	OMIM:620167
HP:0002086	Abnormality of the respiratory system	79583	TMEM231	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	51524	TMEM138	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	23090	ZNF423	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	80184	CEP290	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	51259	TMEM216	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	51259	TMEM216	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	57545	CC2D2A	ORPHA:2318
HP:0002086	Abnormality of the respiratory system	57545	CC2D2A	ORPHA:1454
HP:0002086	Abnormality of the respiratory system	57545	CC2D2A	OMIM:612285
HP:0002086	Abnormality of the respiratory system	5621	PRNP	OMIM:600072
HP:0002086	Abnormality of the respiratory system	3767	KCNJ11	ORPHA:79644
HP:0002086	Abnormality of the respiratory system	8604	SLC25A12	OMIM:612949
HP:0002086	Abnormality of the respiratory system	5095	PCCA	OMIM:606054
HP:0002086	Abnormality of the respiratory system	5096	PCCB	OMIM:606054
HP:0002086	Abnormality of the respiratory system	2898	GRIK2	OMIM:619580
HP:0002086	Abnormality of the respiratory system	171023	ASXL1	ORPHA:97297
HP:0002086	Abnormality of the respiratory system	3977	LIFR	OMIM:601559
HP:0002086	Abnormality of the respiratory system	3977	LIFR	ORPHA:3206
HP:0002086	Abnormality of the respiratory system	8802	SUCLG1	ORPHA:17
HP:0002086	Abnormality of the respiratory system	84314	TMEM107	OMIM:617563
HP:0002086	Abnormality of the respiratory system	91147	TMEM67	ORPHA:1454
HP:0002086	Abnormality of the respiratory system	91147	TMEM67	ORPHA:475
HP:0002086	Abnormality of the respiratory system	23314	SATB2	OMIM:612313
HP:0002086	Abnormality of the respiratory system	56922	MCCC1	OMIM:210200
HP:0002086	Abnormality of the respiratory system	2783	GNB2	OMIM:619503
HP:0002086	Abnormality of the respiratory system	4632	MYL1	OMIM:618414
HP:0002086	Abnormality of the respiratory system	2752	GLUL	OMIM:610015
HP:0002086	Abnormality of the respiratory system	9152	SLC6A5	OMIM:614618
HP:0002086	Abnormality of the respiratory system	79600	TCTN1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	65250	CPLANE1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	65250	CPLANE1	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	200894	ARL13B	ORPHA:475
HP:0002086	Abnormality of the respiratory system	9731	CEP104	ORPHA:475
HP:0002086	Abnormality of the respiratory system	23247	KATNIP	ORPHA:475
HP:0002086	Abnormality of the respiratory system	79867	TCTN2	ORPHA:475
HP:0002086	Abnormality of the respiratory system	80776	B9D2	ORPHA:475
HP:0002086	Abnormality of the respiratory system	10464	PIBF1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	10464	PIBF1	OMIM:617767
HP:0002086	Abnormality of the respiratory system	80210	ARMC9	ORPHA:475
HP:0002086	Abnormality of the respiratory system	80210	ARMC9	OMIM:617622
HP:0002086	Abnormality of the respiratory system	23116	TOGARAM1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	25776	CBY1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	27077	B9D1	ORPHA:475
HP:0002086	Abnormality of the respiratory system	403	ARL3	ORPHA:475
HP:0002086	Abnormality of the respiratory system	8943	AP3D1	OMIM:617050
HP:0002086	Abnormality of the respiratory system	11212	PLPBP	OMIM:617290
HP:0002086	Abnormality of the respiratory system	11019	LIAS	OMIM:614462
HP:0002086	Abnormality of the respiratory system	8929	PHOX2B	OMIM:209880
HP:0002086	Abnormality of the respiratory system	773	CACNA1A	ORPHA:2131
HP:0002086	Abnormality of the respiratory system	6507	SLC1A3	ORPHA:2131
HP:0002086	Abnormality of the respiratory system	477	ATP1A2	ORPHA:2131
HP:0002086	Abnormality of the respiratory system	478	ATP1A3	ORPHA:2131
HP:0002086	Abnormality of the respiratory system	9289	ADGRG1	ORPHA:98889
HP:0002086	Abnormality of the respiratory system	27286	SRPX2	ORPHA:98889
HP:0002086	Abnormality of the respiratory system	6329	SCN4A	ORPHA:99734
HP:0002086	Abnormality of the respiratory system	6329	SCN4A	OMIM:614198
HP:0002086	Abnormality of the respiratory system	25915	NDUFAF3	ORPHA:70474
HP:0002086	Abnormality of the respiratory system	4714	NDUFB8	ORPHA:70474
HP:0002086	Abnormality of the respiratory system	6834	SURF1	ORPHA:70474
HP:0002086	Abnormality of the respiratory system	6834	SURF1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	728294	D2HGDH	OMIM:600721
HP:0002086	Abnormality of the respiratory system	10660	LBX1	OMIM:619483
HP:0002086	Abnormality of the respiratory system	23522	KAT6B	ORPHA:85201
HP:0002086	Abnormality of the respiratory system	283989	TSEN54	ORPHA:2524
HP:0002086	Abnormality of the respiratory system	116461	TSEN15	ORPHA:2524
HP:0002086	Abnormality of the respiratory system	79042	TSEN34	ORPHA:2524
HP:0002086	Abnormality of the respiratory system	80746	TSEN2	ORPHA:2524
HP:0002086	Abnormality of the respiratory system	51091	SEPSECS	ORPHA:2524
HP:0002086	Abnormality of the respiratory system	4976	OPA1	OMIM:616896
HP:0002086	Abnormality of the respiratory system	2741	GLRA1	OMIM:149400
HP:0002086	Abnormality of the respiratory system	10243	GPHN	OMIM:149400
HP:0002086	Abnormality of the respiratory system	9373	PLAA	ORPHA:521426
HP:0002086	Abnormality of the respiratory system	9373	PLAA	OMIM:617527
HP:0002086	Abnormality of the respiratory system	9568	GABBR2	OMIM:617903
HP:0002086	Abnormality of the respiratory system	57038	RARS2	OMIM:611523
HP:0002086	Abnormality of the respiratory system	9562	MINPP1	OMIM:619527
HP:0002086	Abnormality of the respiratory system	7841	MOGS	ORPHA:79330
HP:0002086	Abnormality of the respiratory system	8241	RBM10	ORPHA:2886
HP:0002086	Abnormality of the respiratory system	139285	AMER1	OMIM:300373
HP:0002086	Abnormality of the respiratory system	6389	SDHA	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	80704	SLC19A3	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	55572	FOXRED1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4729	NDUFV2	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	55967	NDUFA12	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	51204	TACO1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4724	NDUFS4	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4724	NDUFS4	OMIM:252010
HP:0002086	Abnormality of the respiratory system	137682	NDUFAF6	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4722	NDUFS3	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	79133	NDUFAF5	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	100131801	PET100	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	1355	COX15	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	1892	ECHS1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	1892	ECHS1	OMIM:616277
HP:0002086	Abnormality of the respiratory system	123263	MTFMT	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	51079	NDUFA13	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	374291	NDUFS7	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4705	NDUFA10	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	51601	LIPT1	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4697	NDUFA4	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	4704	NDUFA9	ORPHA:255241
HP:0002086	Abnormality of the respiratory system	1376	CPT2	OMIM:608836
HP:0002086	Abnormality of the respiratory system	54941	RNF125	OMIM:616260
HP:0002086	Abnormality of the respiratory system	3798	KIF5A	OMIM:617235
HP:0002086	Abnormality of the respiratory system	2902	GRIN1	OMIM:619814
HP:0002086	Abnormality of the respiratory system	5194	PEX13	OMIM:614883
HP:0002086	Abnormality of the respiratory system	4750	NEK1	ORPHA:2751
HP:0002086	Abnormality of the respiratory system	3339	HSPG2	ORPHA:800
HP:0002086	Abnormality of the respiratory system	10210	TOPORS	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	9851	KIAA0753	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	26123	TCTN3	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	5147	PDE6D	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	317662	FAM149B1	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	374654	KIF7	ORPHA:2754
HP:0002086	Abnormality of the respiratory system	221927	BRAT1	OMIM:618056
HP:0002086	Abnormality of the respiratory system	221927	BRAT1	OMIM:614498
HP:0002086	Abnormality of the respiratory system	667	DST	OMIM:614653
HP:0002086	Abnormality of the respiratory system	80199	FUZ	ORPHA:1136
HP:0002086	Abnormality of the respiratory system	3329	HSPD1	OMIM:612233
HP:0002086	Abnormality of the respiratory system	6497	SKI	ORPHA:2462
HP:0002086	Abnormality of the respiratory system	498	ATP5F1A	OMIM:615228
HP:0002086	Abnormality of the respiratory system	5813	PURA	ORPHA:314655
HP:0002086	Abnormality of the respiratory system	1776	DNASE1L3	ORPHA:36412
HP:0002086	Abnormality of the respiratory system	1289	COL5A1	OMIM:130000
HP:0002086	Abnormality of the respiratory system	2658	GDF2	ORPHA:774
HP:0002086	Abnormality of the respiratory system	94	ACVRL1	ORPHA:774
HP:0002086	Abnormality of the respiratory system	1290	COL5A2	OMIM:130010
HP:0002086	Abnormality of the respiratory system	3458	IFNG	ORPHA:805
HP:0002086	Abnormality of the respiratory system	3593	IL12B	ORPHA:3287
HP:0002086	Abnormality of the respiratory system	6945	MLX	ORPHA:3287
HP:0002086	Abnormality of the respiratory system	2153	F5	ORPHA:326
HP:0002086	Abnormality of the respiratory system	55340	GIMAP5	OMIM:619463
HP:0002086	Abnormality of the respiratory system	84818	IL17RC	ORPHA:1334
HP:0002086	Abnormality of the respiratory system	64581	CLEC7A	ORPHA:1334
HP:0002086	Abnormality of the respiratory system	23765	IL17RA	ORPHA:1334
HP:0002086	Abnormality of the respiratory system	10758	TRAF3IP2	ORPHA:1334
HP:0002086	Abnormality of the respiratory system	112744	IL17F	ORPHA:1334
HP:0002086	Abnormality of the respiratory system	7092	TLL1	ORPHA:99106
HP:0002086	Abnormality of the respiratory system	2200	FBN1	OMIM:154700
HP:0002086	Abnormality of the respiratory system	2200	FBN1	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	10526	IPO8	OMIM:619472
HP:0002086	Abnormality of the respiratory system	113189	CHST14	ORPHA:2953
HP:0002086	Abnormality of the respiratory system	113189	CHST14	OMIM:601776
HP:0002086	Abnormality of the respiratory system	29940	DSE	ORPHA:2953
HP:0002086	Abnormality of the respiratory system	10352	WARS2	OMIM:619738
HP:0002086	Abnormality of the respiratory system	4088	SMAD3	OMIM:613795
HP:0002086	Abnormality of the respiratory system	4088	SMAD3	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	4052	LTBP1	ORPHA:90349
HP:0002086	Abnormality of the respiratory system	30008	EFEMP2	ORPHA:90349
HP:0002086	Abnormality of the respiratory system	79770	TXNDC15	OMIM:619879
HP:0002086	Abnormality of the respiratory system	3909	LAMA3	ORPHA:79404
HP:0002086	Abnormality of the respiratory system	3918	LAMC2	ORPHA:79404
HP:0002086	Abnormality of the respiratory system	3914	LAMB3	ORPHA:79404
HP:0002086	Abnormality of the respiratory system	4921	DDR2	OMIM:618175
HP:0002086	Abnormality of the respiratory system	523	ATP6V1A	OMIM:617403
HP:0002086	Abnormality of the respiratory system	529	ATP6V1E1	OMIM:617402
HP:0002086	Abnormality of the respiratory system	7042	TGFB2	OMIM:614816
HP:0002086	Abnormality of the respiratory system	7042	TGFB2	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	3265	HRAS	OMIM:218040
HP:0002086	Abnormality of the respiratory system	7046	TGFBR1	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	4015	LOX	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	4087	SMAD2	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	7043	TGFB3	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	59	ACTA2	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	5592	PRKG1	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	2301	FOXE3	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	4144	MAT2A	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	23493	HEY2	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	8076	MFAP5	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	4638	MYLK	ORPHA:91387
HP:0002086	Abnormality of the respiratory system	7048	TGFBR2	OMIM:610168
HP:0002086	Abnormality of the respiratory system	199221	DZIP1L	ORPHA:731
HP:0002086	Abnormality of the respiratory system	5314	PKHD1	ORPHA:731
HP:0002086	Abnormality of the respiratory system	9508	ADAMTS3	OMIM:618154
HP:0002086	Abnormality of the respiratory system	4791	NFKB2	ORPHA:293978
HP:0002086	Abnormality of the respiratory system	4791	NFKB2	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	695	BTK	OMIM:300755
HP:0002086	Abnormality of the respiratory system	3071	NCKAP1L	OMIM:618982
HP:0002086	Abnormality of the respiratory system	5238	PGM3	ORPHA:443811
HP:0002086	Abnormality of the respiratory system	5238	PGM3	OMIM:615816
HP:0002086	Abnormality of the respiratory system	987	LRBA	OMIM:614700
HP:0002086	Abnormality of the respiratory system	8737	RIPK1	OMIM:618108
HP:0002086	Abnormality of the respiratory system	6890	TAP1	OMIM:604571
HP:0002086	Abnormality of the respiratory system	6891	TAP2	OMIM:604571
HP:0002086	Abnormality of the respiratory system	6892	TAPBP	OMIM:604571
HP:0002086	Abnormality of the respiratory system	9094	UNC119	OMIM:615518
HP:0002086	Abnormality of the respiratory system	6809	STX3	OMIM:619445
HP:0002086	Abnormality of the respiratory system	6809	STX3	OMIM:619446
HP:0002086	Abnormality of the respiratory system	9948	WDR1	OMIM:150550
HP:0002086	Abnormality of the respiratory system	472	ATM	OMIM:208900
HP:0002086	Abnormality of the respiratory system	8382	NME5	OMIM:620032
HP:0002086	Abnormality of the respiratory system	7040	TGFB1	OMIM:219700
HP:0002086	Abnormality of the respiratory system	7040	TGFB1	ORPHA:586
HP:0002086	Abnormality of the respiratory system	6772	STAT1	OMIM:614162
HP:0002086	Abnormality of the respiratory system	6772	STAT1	ORPHA:391487
HP:0002086	Abnormality of the respiratory system	115650	TNFRSF13C	OMIM:240500
HP:0002086	Abnormality of the respiratory system	115650	TNFRSF13C	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	1380	CR2	OMIM:240500
HP:0002086	Abnormality of the respiratory system	1380	CR2	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	29851	ICOS	OMIM:240500
HP:0002086	Abnormality of the respiratory system	29851	ICOS	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	29851	ICOS	OMIM:607594
HP:0002086	Abnormality of the respiratory system	930	CD19	OMIM:240500
HP:0002086	Abnormality of the respiratory system	930	CD19	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	84061	MAGT1	OMIM:300853
HP:0002086	Abnormality of the respiratory system	54453	RIN2	OMIM:613075
HP:0002086	Abnormality of the respiratory system	3394	IRF8	OMIM:226990
HP:0002086	Abnormality of the respiratory system	10379	IRF9	OMIM:618648
HP:0002086	Abnormality of the respiratory system	7852	CXCR4	OMIM:193670
HP:0002086	Abnormality of the respiratory system	7852	CXCR4	ORPHA:51636
HP:0002086	Abnormality of the respiratory system	3572	IL6ST	OMIM:618523
HP:0002086	Abnormality of the respiratory system	3572	IL6ST	OMIM:619752
HP:0002086	Abnormality of the respiratory system	5426	POLE	OMIM:615139
HP:0002086	Abnormality of the respiratory system	79991	STN1	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	1832	DSP	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	10144	FAM13A	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	23250	ATP11A	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	91039	DPP9	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	7012	TERC	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	5073	PARN	ORPHA:2032
HP:0002086	Abnormality of the respiratory system	567	B2M	OMIM:241600
HP:0002086	Abnormality of the respiratory system	7174	TPP2	OMIM:619220
HP:0002086	Abnormality of the respiratory system	4700	NDUFA6	OMIM:618253
HP:0002086	Abnormality of the respiratory system	1729	DIAPH1	OMIM:616632
HP:0002086	Abnormality of the respiratory system	8742	TNFSF12	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	931	MS4A1	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	975	CD81	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	359948	IRF2BP2	ORPHA:1572
HP:0002086	Abnormality of the respiratory system	1789	DNMT3B	OMIM:242860
HP:0002086	Abnormality of the respiratory system	10043	TOM1	ORPHA:391487
HP:0002086	Abnormality of the respiratory system	23568	ARL2BP	OMIM:615434
HP:0002086	Abnormality of the respiratory system	5295	PIK3R1	OMIM:616005
HP:0002086	Abnormality of the respiratory system	5295	PIK3R1	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	54440	SASH3	OMIM:301082
HP:0002086	Abnormality of the respiratory system	55719	SLF2	OMIM:620184
HP:0002086	Abnormality of the respiratory system	3507	IGHM	OMIM:601495
HP:0002086	Abnormality of the respiratory system	3507	IGHM	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	6804	STX1A	ORPHA:586
HP:0002086	Abnormality of the respiratory system	2947	GSTM3	ORPHA:586
HP:0002086	Abnormality of the respiratory system	2729	GCLC	ORPHA:586
HP:0002086	Abnormality of the respiratory system	1084	CEACAM3	ORPHA:586
HP:0002086	Abnormality of the respiratory system	6556	SLC11A1	ORPHA:586
HP:0002086	Abnormality of the respiratory system	51164	DCTN4	ORPHA:586
HP:0002086	Abnormality of the respiratory system	3783	KCNN4	ORPHA:586
HP:0002086	Abnormality of the respiratory system	4282	MIF	ORPHA:586
HP:0002086	Abnormality of the respiratory system	1909	EDNRA	ORPHA:586
HP:0002086	Abnormality of the respiratory system	6550	SLC9A3	ORPHA:586
HP:0002086	Abnormality of the respiratory system	115019	SLC26A9	ORPHA:586
HP:0002086	Abnormality of the respiratory system	3077	HFE	ORPHA:586
HP:0002086	Abnormality of the respiratory system	11254	SLC6A14	ORPHA:586
HP:0002086	Abnormality of the respiratory system	22802	CLCA4	ORPHA:586
HP:0002086	Abnormality of the respiratory system	4680	CEACAM6	ORPHA:586
HP:0002086	Abnormality of the respiratory system	54790	TET2	OMIM:619126
HP:0002086	Abnormality of the respiratory system	50615	IL21R	OMIM:615207
HP:0002086	Abnormality of the respiratory system	10551	AGR2	OMIM:620233
HP:0002086	Abnormality of the respiratory system	85452	CFAP74	OMIM:620197
HP:0002086	Abnormality of the respiratory system	925	CD8A	OMIM:608957
HP:0002086	Abnormality of the respiratory system	84905	ZNF341	OMIM:618282
HP:0002086	Abnormality of the respiratory system	11117	EMILIN1	OMIM:620080
HP:0002086	Abnormality of the respiratory system	27040	LAT	OMIM:617514
HP:0002086	Abnormality of the respiratory system	10516	FBLN5	ORPHA:90348
HP:0002086	Abnormality of the respiratory system	5832	ALDH18A1	ORPHA:90348
HP:0002086	Abnormality of the respiratory system	84433	CARD11	OMIM:617638
HP:0002086	Abnormality of the respiratory system	3514	IGKC	ORPHA:183675
HP:0002086	Abnormality of the respiratory system	3501	IGHG2	ORPHA:183675
HP:0002086	Abnormality of the respiratory system	6850	SYK	OMIM:619381
HP:0002086	Abnormality of the respiratory system	96459	FNIP1	OMIM:619705
HP:0002086	Abnormality of the respiratory system	55315	SLC29A3	ORPHA:168569
HP:0002086	Abnormality of the respiratory system	9138	ARHGEF1	OMIM:618459
HP:0002086	Abnormality of the respiratory system	5297	PI4KA	OMIM:619708
HP:0002086	Abnormality of the respiratory system	6929	TCF3	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	973	CD79A	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	974	CD79B	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	3543	IGLL1	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	29760	BLNK	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	56262	LRRC8A	ORPHA:33110
HP:0002086	Abnormality of the respiratory system	356	FASLG	ORPHA:3261
HP:0002086	Abnormality of the respiratory system	5580	PRKCD	ORPHA:3261
HP:0002086	Abnormality of the respiratory system	843	CASP10	ORPHA:3261
HP:0002086	Abnormality of the respiratory system	10125	RASGRP1	ORPHA:3261
HP:0002086	Abnormality of the respiratory system	330	BIRC3	ORPHA:52417
HP:0002086	Abnormality of the respiratory system	10892	MALT1	ORPHA:52417
HP:0002086	Abnormality of the respiratory system	27086	FOXP1	ORPHA:52417
HP:0002086	Abnormality of the respiratory system	3492	IGH	ORPHA:52417
HP:0002086	Abnormality of the respiratory system	8915	BCL10	ORPHA:52417
HP:0002086	Abnormality of the respiratory system	5156	PDGFRA	OMIM:607685
HP:0002086	Abnormality of the respiratory system	3043	HBB	ORPHA:251380
HP:0002086	Abnormality of the respiratory system	53335	BCL11A	ORPHA:251380
HP:0002086	Abnormality of the respiratory system	10661	KLF1	ORPHA:251380
HP:0002086	Abnormality of the respiratory system	3047	HBG1	ORPHA:251380
HP:0002086	Abnormality of the respiratory system	3048	HBG2	ORPHA:251380
HP:0002086	Abnormality of the respiratory system	7317	UBA1	OMIM:301054
HP:0002086	Abnormality of the respiratory system	7248	TSC1	ORPHA:538
HP:0002086	Abnormality of the respiratory system	7249	TSC2	ORPHA:538
HP:0002086	Abnormality of the respiratory system	9663	LPIN2	ORPHA:77297
HP:0002086	Abnormality of the respiratory system	348	APOE	ORPHA:158029
HP:0002086	Abnormality of the respiratory system	5557	PRIM1	OMIM:620005
HP:0002086	Abnormality of the respiratory system	4615	MYD88	ORPHA:33226
HP:0002086	Abnormality of the respiratory system	254428	SLC41A1	OMIM:619468
HP:0002086	Abnormality of the respiratory system	1794	DOCK2	OMIM:616433
HP:0002086	Abnormality of the respiratory system	1235	CCR6	ORPHA:220393
HP:0002086	Abnormality of the respiratory system	1490	CCN2	ORPHA:220393
HP:0002086	Abnormality of the respiratory system	3663	IRF5	ORPHA:220393
HP:0002086	Abnormality of the respiratory system	857	CAV1	ORPHA:220393
HP:0002086	Abnormality of the respiratory system	3559	IL2RA	OMIM:606367
HP:0002086	Abnormality of the respiratory system	5873	RAB27A	ORPHA:79477
HP:0002086	Abnormality of the respiratory system	83483	PLVAP	OMIM:618183
HP:0002086	Abnormality of the respiratory system	144811	LACC1	ORPHA:85414
HP:0002086	Abnormality of the respiratory system	3569	IL6	ORPHA:85414
HP:0002086	Abnormality of the respiratory system	595	CCND1	ORPHA:29073
HP:0002086	Abnormality of the respiratory system	3702	ITK	OMIM:613011
HP:0002086	Abnormality of the respiratory system	9780	PIEZO1	OMIM:616843
HP:0002086	Abnormality of the respiratory system	25821	MTO1	OMIM:614702
HP:0002086	Abnormality of the respiratory system	6696	SPP1	ORPHA:93552
HP:0002086	Abnormality of the respiratory system	3654	IRAK1	ORPHA:93552
HP:0002086	Abnormality of the respiratory system	596	BCL2	ORPHA:545
HP:0002086	Abnormality of the respiratory system	604	BCL6	ORPHA:545
HP:0002086	Abnormality of the respiratory system	11330	CTRC	OMIM:167800
HP:0002086	Abnormality of the respiratory system	6690	SPINK1	OMIM:167800
HP:0002086	Abnormality of the respiratory system	5645	PRSS2	OMIM:167800
HP:0002086	Abnormality of the respiratory system	5644	PRSS1	OMIM:167800
HP:0002086	Abnormality of the respiratory system	81	ACTN4	OMIM:603278
HP:0002086	Abnormality of the respiratory system	84162	BLTP1	OMIM:617822
HP:0002086	Abnormality of the respiratory system	202018	TAPT1	OMIM:616897
HP:0002086	Abnormality of the respiratory system	3832	KIF11	ORPHA:2526
HP:0002086	Abnormality of the respiratory system	3075	CFH	ORPHA:244242
HP:0002086	Abnormality of the respiratory system	3426	CFI	ORPHA:244242
HP:0002086	Abnormality of the respiratory system	4179	CD46	ORPHA:244242
HP:0002086	Abnormality of the respiratory system	101101692	HELLPAR	ORPHA:244242
HP:0002086	Abnormality of the respiratory system	54345	SOX18	ORPHA:69735
HP:0002086	Abnormality of the respiratory system	64135	IFIH1	OMIM:182250
HP:0002086	Abnormality of the respiratory system	2859	GPR35	ORPHA:171
HP:0002086	Abnormality of the respiratory system	10507	SEMA4D	ORPHA:171
HP:0002086	Abnormality of the respiratory system	4485	MST1	ORPHA:171
HP:0002086	Abnormality of the respiratory system	50619	DEF6	OMIM:619573
HP:0002086	Abnormality of the respiratory system	11274	USP18	OMIM:617397
HP:0002086	Abnormality of the respiratory system	738	VPS51	OMIM:618606
HP:0002086	Abnormality of the respiratory system	2492	FSHR	ORPHA:64739
HP:0002086	Abnormality of the respiratory system	147372	CCBE1	OMIM:235510
HP:0002086	Abnormality of the respiratory system	1130	LYST	ORPHA:167
HP:0002086	Abnormality of the respiratory system	10203	CALCRL	OMIM:618773
HP:0002086	Abnormality of the respiratory system	9971	NR1H4	OMIM:617049
HP:0002086	Abnormality of the respiratory system	950	SCARB2	OMIM:254900
HP:0002086	Abnormality of the respiratory system	650	BMP2	OMIM:235200
HP:0002086	Abnormality of the respiratory system	779	CACNA1S	ORPHA:681
HP:0002086	Abnormality of the respiratory system	779	CACNA1S	ORPHA:79102
HP:0002086	Abnormality of the respiratory system	10008	KCNE3	ORPHA:681
HP:0002086	Abnormality of the respiratory system	3145	HMBS	OMIM:176000
HP:0002086	Abnormality of the respiratory system	3145	HMBS	ORPHA:79276
HP:0002086	Abnormality of the respiratory system	5498	PPOX	ORPHA:79473
HP:0002086	Abnormality of the respiratory system	100134444	KCNJ18	ORPHA:79102
HP:0002086	Abnormality of the respiratory system	2556	GABRA3	ORPHA:79102
HP:0002086	Abnormality of the respiratory system	1371	CPOX	OMIM:121300
HP:0002086	Abnormality of the respiratory system	875	CBS	ORPHA:394
HP:0002086	Abnormality of the respiratory system	6005	RHAG	OMIM:185000
HP:0002086	Abnormality of the respiratory system	2162	F13A1	OMIM:188050
HP:0002086	Abnormality of the respiratory system	2147	F2	OMIM:188050
HP:0002086	Abnormality of the respiratory system	3026	HABP2	OMIM:188050
HP:0002086	Abnormality of the respiratory system	7056	THBD	OMIM:614486
HP:0002086	Abnormality of the respiratory system	4352	MPL	ORPHA:729
HP:0002086	Abnormality of the respiratory system	3717	JAK2	ORPHA:729
HP:0002086	Abnormality of the respiratory system	25974	MMACHC	ORPHA:79282
HP:0002086	Abnormality of the respiratory system	462	SERPINC1	OMIM:613118
HP:0002086	Abnormality of the respiratory system	462	SERPINC1	ORPHA:82
HP:0002086	Abnormality of the respiratory system	5624	PROC	OMIM:612304
HP:0002086	Abnormality of the respiratory system	5624	PROC	ORPHA:745
HP:0002086	Abnormality of the respiratory system	5624	PROC	OMIM:176860
HP:0002086	Abnormality of the respiratory system	5627	PROS1	ORPHA:743
HP:0002086	Abnormality of the respiratory system	5627	PROS1	OMIM:614514
HP:0002086	Abnormality of the respiratory system	5627	PROS1	OMIM:612336
HP:0002086	Abnormality of the respiratory system	2776	GNAQ	ORPHA:624
HP:0002086	Abnormality of the respiratory system	2776	GNAQ	ORPHA:3205
HP:0002086	Abnormality of the respiratory system	5277	PIGA	ORPHA:447
HP:0002086	Abnormality of the respiratory system	1604	CD55	OMIM:226300
HP:0002086	Abnormality of the respiratory system	3762	KCNJ5	OMIM:613485
HP:0002086	Abnormality of the respiratory system	2157	F8	OMIM:301071
HP:0002086	Abnormality of the respiratory system	8367	H4C5	OMIM:619950
HP:0002086	Abnormality of the respiratory system	7360	UGP2	OMIM:618744
HP:0002086	Abnormality of the respiratory system	128178	EDARADD	OMIM:614941
HP:0002086	Abnormality of the respiratory system	613	BCR	ORPHA:261330
HP:0002086	Abnormality of the respiratory system	1399	CRKL	ORPHA:261330
HP:0002086	Abnormality of the respiratory system	5594	MAPK1	ORPHA:261330
HP:0002086	Abnormality of the respiratory system	51506	UFC1	OMIM:618076
HP:0002086	Abnormality of the respiratory system	283489	CHAMP1	OMIM:616579
HP:0002086	Abnormality of the respiratory system	65082	VPS33A	OMIM:617303
HP:0002086	Abnormality of the respiratory system	65082	VPS33A	ORPHA:505248
HP:0002086	Abnormality of the respiratory system	25782	RAB3GAP2	OMIM:212720
HP:0002086	Abnormality of the respiratory system	5818	NECTIN1	ORPHA:3253
HP:0002086	Abnormality of the respiratory system	55768	NGLY1	ORPHA:404454
HP:0002086	Abnormality of the respiratory system	55768	NGLY1	OMIM:615273
HP:0002086	Abnormality of the respiratory system	7535	ZAP70	OMIM:269840
HP:0002086	Abnormality of the respiratory system	54	ACP5	OMIM:607944
HP:0002086	Abnormality of the respiratory system	51360	MBTPS2	ORPHA:2273
HP:0002086	Abnormality of the respiratory system	57492	ARID1B	OMIM:135900
HP:0002086	Abnormality of the respiratory system	284058	KANSL1	ORPHA:363958
HP:0002086	Abnormality of the respiratory system	284058	KANSL1	ORPHA:363965
HP:0002086	Abnormality of the respiratory system	6261	RYR1	OMIM:255320
HP:0002086	Abnormality of the respiratory system	6261	RYR1	ORPHA:424107
HP:0002086	Abnormality of the respiratory system	6261	RYR1	ORPHA:98905
HP:0002086	Abnormality of the respiratory system	92579	G6PC3	OMIM:612541
HP:0002086	Abnormality of the respiratory system	9326	ZNHIT3	ORPHA:2836
HP:0002086	Abnormality of the respiratory system	547	KIF1A	ORPHA:2836
HP:0002086	Abnormality of the respiratory system	340061	STING1	OMIM:615934
HP:0002086	Abnormality of the respiratory system	64359	NXN	ORPHA:1507
HP:0002086	Abnormality of the respiratory system	4920	ROR2	ORPHA:1507
HP:0002086	Abnormality of the respiratory system	5896	RAG1	OMIM:233650
HP:0002086	Abnormality of the respiratory system	5897	RAG2	OMIM:233650
HP:0002086	Abnormality of the respiratory system	100303755	PET117	OMIM:619063
HP:0002086	Abnormality of the respiratory system	28755	TRAC	OMIM:615387
HP:0002086	Abnormality of the respiratory system	79813	EHMT1	OMIM:610253
HP:0002086	Abnormality of the respiratory system	3070	HELLS	ORPHA:2268
HP:0002086	Abnormality of the respiratory system	83879	CDCA7	ORPHA:2268
HP:0002086	Abnormality of the respiratory system	9841	ZBTB24	ORPHA:2268
HP:0002086	Abnormality of the respiratory system	3425	IDUA	OMIM:607014
HP:0002086	Abnormality of the respiratory system	3425	IDUA	OMIM:607015
HP:0002086	Abnormality of the respiratory system	3425	IDUA	ORPHA:93473
HP:0002086	Abnormality of the respiratory system	175	AGA	ORPHA:93
HP:0002086	Abnormality of the respiratory system	175	AGA	OMIM:208400
HP:0002086	Abnormality of the respiratory system	2214	FCGR3A	OMIM:615707
HP:0002086	Abnormality of the respiratory system	4853	NOTCH2	ORPHA:955
HP:0002086	Abnormality of the respiratory system	30011	SH3KBP1	OMIM:300310
HP:0002086	Abnormality of the respiratory system	57217	TTC7A	OMIM:243150
HP:0002086	Abnormality of the respiratory system	55773	TBC1D23	OMIM:617695
HP:0002086	Abnormality of the respiratory system	79633	FAT4	ORPHA:2136
HP:0002086	Abnormality of the respiratory system	8364	H4C3	OMIM:619758
HP:0002086	Abnormality of the respiratory system	11128	POLR3A	OMIM:264090
HP:0002086	Abnormality of the respiratory system	3675	ITGA3	OMIM:614748
HP:0002086	Abnormality of the respiratory system	2624	GATA2	ORPHA:3226
HP:0002086	Abnormality of the respiratory system	4644	MYO5A	ORPHA:33445
HP:0002086	Abnormality of the respiratory system	2316	FLNA	ORPHA:2484
HP:0002086	Abnormality of the respiratory system	2316	FLNA	OMIM:309350
HP:0002086	Abnormality of the respiratory system	9772	TMEM94	OMIM:618316
HP:0002086	Abnormality of the respiratory system	917	CD3G	OMIM:615607
HP:0002086	Abnormality of the respiratory system	9338	TCEAL1	OMIM:301094
HP:0002086	Abnormality of the respiratory system	26154	ABCA12	ORPHA:457
HP:0002086	Abnormality of the respiratory system	26154	ABCA12	ORPHA:313
HP:0002086	Abnormality of the respiratory system	3718	JAK3	ORPHA:35078
HP:0002086	Abnormality of the respiratory system	6638	SNRPN	ORPHA:98754
HP:0002086	Abnormality of the respiratory system	6638	SNRPN	ORPHA:177904
HP:0002086	Abnormality of the respiratory system	6638	SNRPN	ORPHA:177901
HP:0002086	Abnormality of the respiratory system	6638	SNRPN	ORPHA:177907
HP:0002086	Abnormality of the respiratory system	4692	NDN	ORPHA:98754
HP:0002086	Abnormality of the respiratory system	4692	NDN	ORPHA:177904
HP:0002086	Abnormality of the respiratory system	4692	NDN	ORPHA:177901
HP:0002086	Abnormality of the respiratory system	54551	MAGEL2	ORPHA:98754
HP:0002086	Abnormality of the respiratory system	54551	MAGEL2	OMIM:176270
HP:0002086	Abnormality of the respiratory system	54551	MAGEL2	ORPHA:177904
HP:0002086	Abnormality of the respiratory system	54551	MAGEL2	ORPHA:177901
HP:0002086	Abnormality of the respiratory system	54551	MAGEL2	ORPHA:398069
HP:0002086	Abnormality of the respiratory system	4948	OCA2	ORPHA:98754
HP:0002086	Abnormality of the respiratory system	4948	OCA2	ORPHA:177904
HP:0002086	Abnormality of the respiratory system	4948	OCA2	ORPHA:177901
HP:0002086	Abnormality of the respiratory system	145873	MESP2	OMIM:608681
HP:0002086	Abnormality of the respiratory system	145873	MESP2	OMIM:277300
HP:0002086	Abnormality of the respiratory system	57724	EPG5	OMIM:242840
HP:0002086	Abnormality of the respiratory system	57724	EPG5	ORPHA:1493
HP:0002086	Abnormality of the respiratory system	8242	KDM5C	OMIM:300534
HP:0002086	Abnormality of the respiratory system	197258	FCSK	OMIM:618324
HP:0002086	Abnormality of the respiratory system	79989	IFT56	OMIM:619534
HP:0002086	Abnormality of the respiratory system	84522	JAGN1	OMIM:616022
HP:0002086	Abnormality of the respiratory system	50943	FOXP3	ORPHA:37042
HP:0002086	Abnormality of the respiratory system	3551	IKBKB	OMIM:618204
HP:0002086	Abnormality of the respiratory system	23219	FBXO28	OMIM:619777
HP:0002086	Abnormality of the respiratory system	916	CD3E	OMIM:615615
HP:0002086	Abnormality of the respiratory system	51322	WAC	ORPHA:466950
HP:0002086	Abnormality of the respiratory system	915	CD3D	OMIM:615617
HP:0002086	Abnormality of the respiratory system	6509	SLC1A4	ORPHA:447997
HP:0002086	Abnormality of the respiratory system	79087	ALG12	ORPHA:79324
HP:0002086	Abnormality of the respiratory system	2000	ELF4	OMIM:301074
HP:0002086	Abnormality of the respiratory system	6595	SMARCA2	OMIM:601358
HP:0002086	Abnormality of the respiratory system	7227	TRPS1	OMIM:190350
HP:0002086	Abnormality of the respiratory system	51053	GMNN	OMIM:616835
HP:0002086	Abnormality of the respiratory system	7319	UBE2A	ORPHA:163956
HP:0002086	Abnormality of the respiratory system	5062	PAK2	OMIM:618458
HP:0002086	Abnormality of the respiratory system	1828	DSG1	OMIM:615508
HP:0002086	Abnormality of the respiratory system	79751	SLC25A22	ORPHA:1935
HP:0002086	Abnormality of the respiratory system	150094	SIK1	ORPHA:1935
HP:0002086	Abnormality of the respiratory system	219285	SAMD9L	ORPHA:2585
HP:0002086	Abnormality of the respiratory system	204	AK2	ORPHA:33355
HP:0002086	Abnormality of the respiratory system	4126	MANBA	ORPHA:118
HP:0002086	Abnormality of the respiratory system	331	XIAP	OMIM:300635
HP:0002086	Abnormality of the respiratory system	331	XIAP	OMIM:308240
HP:0002086	Abnormality of the respiratory system	10806	SDCCAG8	OMIM:615993
HP:0002086	Abnormality of the respiratory system	23394	ADNP	OMIM:615873
HP:0002086	Abnormality of the respiratory system	8818	DPM2	ORPHA:329178
HP:0002086	Abnormality of the respiratory system	4173	MCM4	OMIM:609981
HP:0002086	Abnormality of the respiratory system	113235	SLC46A1	ORPHA:90045
HP:0002086	Abnormality of the respiratory system	7681	MKRN3	OMIM:176270
HP:0002086	Abnormality of the respiratory system	3653	IPW	OMIM:176270
HP:0002086	Abnormality of the respiratory system	791114	PWRN1	OMIM:176270
HP:0002086	Abnormality of the respiratory system	100033413	SNORD116-1	OMIM:176270
HP:0002086	Abnormality of the respiratory system	8924	HERC2	OMIM:176270
HP:0002086	Abnormality of the respiratory system	145624	PWAR1	OMIM:176270
HP:0002086	Abnormality of the respiratory system	23742	NPAP1	OMIM:176270
HP:0002086	Abnormality of the respiratory system	338433	SNORD115-1	OMIM:176270
HP:0002086	Abnormality of the respiratory system	3981	LIG4	OMIM:606593
HP:0002086	Abnormality of the respiratory system	7372	UMPS	ORPHA:30
HP:0002086	Abnormality of the respiratory system	57379	AICDA	OMIM:605258
HP:0002086	Abnormality of the respiratory system	1387	CREBBP	ORPHA:353281
HP:0002086	Abnormality of the respiratory system	1387	CREBBP	ORPHA:353277
HP:0002086	Abnormality of the respiratory system	57511	COG6	ORPHA:363523
HP:0002086	Abnormality of the respiratory system	4792	NFKBIA	OMIM:612132
HP:0002086	Abnormality of the respiratory system	6606	SMN1	OMIM:253550
HP:0002086	Abnormality of the respiratory system	6606	SMN1	OMIM:253300
HP:0002086	Abnormality of the respiratory system	6905	TBCE	ORPHA:2323
HP:0002086	Abnormality of the respiratory system	83479	DDX59	OMIM:174300
HP:0002086	Abnormality of the respiratory system	6492	SIM1	ORPHA:398079
HP:0002086	Abnormality of the respiratory system	5660	PSAP	ORPHA:139406
HP:0002086	Abnormality of the respiratory system	114803	MYSM1	OMIM:618116
HP:0002086	Abnormality of the respiratory system	2033	EP300	ORPHA:353284
HP:0002086	Abnormality of the respiratory system	59067	IL21	OMIM:615767
HP:0002086	Abnormality of the respiratory system	10683	DLL3	OMIM:277300
HP:0002086	Abnormality of the respiratory system	4952	OCRL	ORPHA:534
HP:0002086	Abnormality of the respiratory system	4068	SH2D1A	OMIM:308240
HP:0002086	Abnormality of the respiratory system	5994	RFXAP	ORPHA:572
HP:0002086	Abnormality of the respiratory system	4261	CIITA	ORPHA:572
HP:0002086	Abnormality of the respiratory system	5993	RFX5	ORPHA:572
HP:0002086	Abnormality of the respiratory system	8625	RFXANK	ORPHA:572
HP:0002086	Abnormality of the respiratory system	57551	TAOK1	OMIM:619575
HP:0002086	Abnormality of the respiratory system	4621	MYH3	OMIM:193700
HP:0002086	Abnormality of the respiratory system	11280	SCN11A	ORPHA:90026
HP:0002086	Abnormality of the respiratory system	6336	SCN10A	ORPHA:90026
HP:0002086	Abnormality of the respiratory system	55764	IFT122	OMIM:218330
HP:0002086	Abnormality of the respiratory system	7703	PCGF2	OMIM:618371
HP:0002086	Abnormality of the respiratory system	774	CACNA1B	OMIM:618497
HP:0002086	Abnormality of the respiratory system	4478	MSN	OMIM:300988
HP:0002086	Abnormality of the respiratory system	51300	TIMMDC1	OMIM:618251
HP:0002086	Abnormality of the respiratory system	3560	IL2RB	OMIM:618495
HP:0002086	Abnormality of the respiratory system	860	RUNX2	ORPHA:1452
HP:0002086	Abnormality of the respiratory system	25839	COG4	OMIM:613489
HP:0002086	Abnormality of the respiratory system	8883	NAE1	OMIM:620210
HP:0002086	Abnormality of the respiratory system	2313	FLI1	ORPHA:2308
HP:0002086	Abnormality of the respiratory system	151516	ASPRV1	ORPHA:313
HP:0002086	Abnormality of the respiratory system	242	ALOX12B	ORPHA:313
HP:0002086	Abnormality of the respiratory system	126410	CYP4F22	ORPHA:313
HP:0002086	Abnormality of the respiratory system	6820	SULT2B1	ORPHA:313
HP:0002086	Abnormality of the respiratory system	643418	LIPN	ORPHA:313
HP:0002086	Abnormality of the respiratory system	59344	ALOXE3	ORPHA:313
HP:0002086	Abnormality of the respiratory system	348938	NIPAL4	ORPHA:313
HP:0002086	Abnormality of the respiratory system	121214	SDR9C7	ORPHA:313
HP:0002086	Abnormality of the respiratory system	7051	TGM1	ORPHA:313
HP:0002086	Abnormality of the respiratory system	1075	CTSC	ORPHA:678
HP:0002086	Abnormality of the respiratory system	2517	FUCA1	OMIM:230000
HP:0002086	Abnormality of the respiratory system	84665	MYPN	ORPHA:75249
HP:0002086	Abnormality of the respiratory system	2318	FLNC	ORPHA:75249
HP:0002086	Abnormality of the respiratory system	7139	TNNT2	ORPHA:75249
HP:0002086	Abnormality of the respiratory system	7137	TNNI3	ORPHA:75249
HP:0002086	Abnormality of the respiratory system	10112	KIF20A	ORPHA:75249
HP:0002086	Abnormality of the respiratory system	5184	PEPD	ORPHA:742
HP:0002086	Abnormality of the respiratory system	3636	INPPL1	OMIM:258480
HP:0002086	Abnormality of the respiratory system	3636	INPPL1	ORPHA:2746
HP:0002086	Abnormality of the respiratory system	2077	ERF	OMIM:617180
HP:0002086	Abnormality of the respiratory system	374354	NHLRC2	OMIM:618278
HP:0002086	Abnormality of the respiratory system	55617	TASP1	OMIM:618950
HP:0002086	Abnormality of the respiratory system	8239	USP9X	OMIM:300968
HP:0002086	Abnormality of the respiratory system	51124	IER3IP1	OMIM:614231
HP:0002086	Abnormality of the respiratory system	57477	SHROOM4	ORPHA:85288
HP:0002086	Abnormality of the respiratory system	83737	ITCH	OMIM:613385
HP:0002086	Abnormality of the respiratory system	84340	GFM2	OMIM:618397
HP:0002086	Abnormality of the respiratory system	10398	MYL9	OMIM:619365
HP:0002086	Abnormality of the respiratory system	10293	TRAIP	OMIM:616777
HP:0002086	Abnormality of the respiratory system	6911	TBX6	ORPHA:1797
HP:0002086	Abnormality of the respiratory system	11005	SPINK5	OMIM:256500
HP:0002086	Abnormality of the respiratory system	11005	SPINK5	ORPHA:634
HP:0002086	Abnormality of the respiratory system	2890	GRIA1	OMIM:619927
HP:0002086	Abnormality of the respiratory system	7297	TYK2	OMIM:611521
HP:0002086	Abnormality of the respiratory system	1893	ECM1	ORPHA:530
HP:0002086	Abnormality of the respiratory system	9895	TECPR2	ORPHA:320385
HP:0002086	Abnormality of the respiratory system	4938	OAS1	OMIM:618042
HP:0002086	Abnormality of the respiratory system	8651	SOCS1	OMIM:619375
HP:0002086	Abnormality of the respiratory system	5116	PCNT	ORPHA:2637
HP:0002086	Abnormality of the respiratory system	5430	POLR2A	OMIM:618603
HP:0002086	Abnormality of the respiratory system	9897	WASHC5	ORPHA:7
HP:0002086	Abnormality of the respiratory system	28952	CCDC22	ORPHA:7
HP:0002086	Abnormality of the respiratory system	4860	PNP	ORPHA:760
HP:0002086	Abnormality of the respiratory system	129285	PPP1R21	OMIM:619383
HP:0002086	Abnormality of the respiratory system	406932	MIR140	OMIM:618618
HP:0002086	Abnormality of the respiratory system	6688	SPI1	OMIM:619707
HP:0002086	Abnormality of the respiratory system	25871	NEPRO	OMIM:618853
HP:0002086	Abnormality of the respiratory system	9325	TRIP4	ORPHA:486815
HP:0002086	Abnormality of the respiratory system	55213	RCBTB1	OMIM:617175
HP:0002086	Abnormality of the respiratory system	3257	HPS1	OMIM:203300
HP:0002086	Abnormality of the respiratory system	79932	KIAA0319L	ORPHA:220402
HP:0002086	Abnormality of the respiratory system	5339	PLEC	ORPHA:254361
HP:0002086	Abnormality of the respiratory system	89781	HPS4	OMIM:614073
HP:0002086	Abnormality of the respiratory system	55596	ZCCHC8	OMIM:618674
HP:0002086	Abnormality of the respiratory system	4141	MARS1	OMIM:615486
HP:0002086	Abnormality of the respiratory system	79803	HPS6	OMIM:614075
HP:0002086	Abnormality of the respiratory system	3557	IL1RN	OMIM:612852
HP:0002086	Abnormality of the respiratory system	6117	RPA1	OMIM:619767
HP:0002086	Abnormality of the respiratory system	1962	EHHADH	ORPHA:3337
HP:0002086	Abnormality of the respiratory system	2628	GATM	ORPHA:3337
HP:0002086	Abnormality of the respiratory system	6569	SLC34A1	ORPHA:3337
HP:0002086	Abnormality of the respiratory system	10577	NPC2	OMIM:607625
HP:0002086	Abnormality of the respiratory system	7157	TP53	OMIM:618165
HP:0002086	Abnormality of the respiratory system	8546	AP3B1	OMIM:608233
HP:0002086	Abnormality of the respiratory system	29893	PSMC3IP	ORPHA:243
HP:0002086	Abnormality of the respiratory system	171568	POLR3H	ORPHA:243
HP:0002086	Abnormality of the respiratory system	2516	NR5A1	ORPHA:243
HP:0002086	Abnormality of the respiratory system	125150	ZSWIM7	ORPHA:243
HP:0002086	Abnormality of the respiratory system	9210	BMP15	ORPHA:243
HP:0002086	Abnormality of the respiratory system	57122	NUP107	ORPHA:243
HP:0002086	Abnormality of the respiratory system	23514	SPIDR	ORPHA:243
HP:0002086	Abnormality of the respiratory system	56945	MRPS22	ORPHA:243
HP:0002086	Abnormality of the respiratory system	646	BNC1	ORPHA:243
HP:0002086	Abnormality of the respiratory system	57187	THOC2	ORPHA:457240
HP:0002086	Abnormality of the respiratory system	374393	FAM111B	OMIM:615704
HP:0002086	Abnormality of the respiratory system	10054	UBA2	OMIM:619959
HP:0002086	Abnormality of the respiratory system	7461	CLIP2	ORPHA:904
HP:0002086	Abnormality of the respiratory system	84277	DNAJC30	ORPHA:904
HP:0002086	Abnormality of the respiratory system	8468	FKBP6	ORPHA:904
HP:0002086	Abnormality of the respiratory system	5982	RFC2	ORPHA:904
HP:0002086	Abnormality of the respiratory system	2969	GTF2I	ORPHA:904
HP:0002086	Abnormality of the respiratory system	3984	LIMK1	ORPHA:904
HP:0002086	Abnormality of the respiratory system	9569	GTF2IRD1	ORPHA:904
HP:0002086	Abnormality of the respiratory system	155382	VPS37D	ORPHA:904
HP:0002086	Abnormality of the respiratory system	155368	METTL27	ORPHA:904
HP:0002086	Abnormality of the respiratory system	114049	BUD23	ORPHA:904
HP:0002086	Abnormality of the respiratory system	7458	EIF4H	ORPHA:904
HP:0002086	Abnormality of the respiratory system	84163	GTF2IRD2	ORPHA:904
HP:0002086	Abnormality of the respiratory system	9275	BCL7B	ORPHA:904
HP:0002086	Abnormality of the respiratory system	26608	TBL2	ORPHA:904
HP:0002086	Abnormality of the respiratory system	135886	TMEM270	ORPHA:904
HP:0002086	Abnormality of the respiratory system	51085	MLXIPL	ORPHA:904
HP:0002086	Abnormality of the respiratory system	9031	BAZ1B	ORPHA:904
HP:0002086	Abnormality of the respiratory system	5979	RET	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	8516	ITGA8	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	26281	FGF20	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	2674	GFRA1	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	7484	WNT9B	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	80000	GREB1L	ORPHA:1848
HP:0002086	Abnormality of the respiratory system	6558	SLC12A2	OMIM:619083
HP:0002086	Abnormality of the respiratory system	9533	POLR1C	ORPHA:861
HP:0002086	Abnormality of the respiratory system	51082	POLR1D	ORPHA:861
HP:0002086	Abnormality of the respiratory system	6949	TCOF1	ORPHA:861
HP:0002086	Abnormality of the respiratory system	6299	SALL1	OMIM:107480
HP:0002086	Abnormality of the respiratory system	7547	ZIC3	OMIM:314390
HP:0002086	Abnormality of the respiratory system	55788	LMBRD1	OMIM:277380
HP:0002086	Abnormality of the respiratory system	55636	CHD7	ORPHA:138
HP:0002086	Abnormality of the respiratory system	55636	CHD7	OMIM:214800
HP:0002086	Abnormality of the respiratory system	9723	SEMA3E	ORPHA:138
HP:0002086	Abnormality of the respiratory system	6657	SOX2	ORPHA:77298
HP:0002086	Abnormality of the respiratory system	6657	SOX2	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	4854	NOTCH3	ORPHA:2591
HP:0002086	Abnormality of the respiratory system	5159	PDGFRB	ORPHA:2591
HP:0002086	Abnormality of the respiratory system	2177	FANCD2	OMIM:227646
HP:0002086	Abnormality of the respiratory system	2177	FANCD2	ORPHA:84
HP:0002086	Abnormality of the respiratory system	55120	FANCL	OMIM:614083
HP:0002086	Abnormality of the respiratory system	55120	FANCL	ORPHA:84
HP:0002086	Abnormality of the respiratory system	10606	PAICS	OMIM:619859
HP:0002086	Abnormality of the respiratory system	7476	WNT7A	ORPHA:2879
HP:0002086	Abnormality of the respiratory system	672	BRCA1	ORPHA:84
HP:0002086	Abnormality of the respiratory system	10459	MAD2L2	ORPHA:84
HP:0002086	Abnormality of the respiratory system	7516	XRCC2	ORPHA:84
HP:0002086	Abnormality of the respiratory system	29089	UBE2T	ORPHA:84
HP:0002086	Abnormality of the respiratory system	675	BRCA2	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2175	FANCA	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2176	FANCC	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2178	FANCE	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2188	FANCF	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2189	FANCG	ORPHA:84
HP:0002086	Abnormality of the respiratory system	5888	RAD51	ORPHA:84
HP:0002086	Abnormality of the respiratory system	5889	RAD51C	ORPHA:84
HP:0002086	Abnormality of the respiratory system	55159	RFWD3	ORPHA:84
HP:0002086	Abnormality of the respiratory system	83990	BRIP1	ORPHA:84
HP:0002086	Abnormality of the respiratory system	57697	FANCM	ORPHA:84
HP:0002086	Abnormality of the respiratory system	79728	PALB2	ORPHA:84
HP:0002086	Abnormality of the respiratory system	84464	SLX4	ORPHA:84
HP:0002086	Abnormality of the respiratory system	2072	ERCC4	ORPHA:84
HP:0002086	Abnormality of the respiratory system	55215	FANCI	ORPHA:84
HP:0002086	Abnormality of the respiratory system	80169	CTC1	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	26277	TINF2	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	55651	NHP2	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	79650	USB1	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	55135	WRAP53	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	4869	NPM1	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	55505	NOP10	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	1736	DKC1	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	7298	TYMS	ORPHA:1775
HP:0002086	Abnormality of the respiratory system	4613	MYCN	OMIM:164280
HP:0002086	Abnormality of the respiratory system	51729	WBP11	OMIM:619227
HP:0002086	Abnormality of the respiratory system	2260	FGFR1	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	128674	PROKR2	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	6658	SOX3	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	9915	ARNT2	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	8820	HESX1	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	5015	OTX2	ORPHA:3157
HP:0002086	Abnormality of the respiratory system	2201	FBN2	ORPHA:115
HP:0002086	Abnormality of the respiratory system	10059	DNM1L	OMIM:614388
HP:0002086	Abnormality of the respiratory system	55627	SMPD4	OMIM:618622
HP:0002086	Abnormality of the respiratory system	23417	MLYCD	OMIM:248360
HP:0002086	Abnormality of the respiratory system	501	ALDH7A1	OMIM:266100
HP:0002086	Abnormality of the respiratory system	501	ALDH7A1	ORPHA:3006
HP:0002086	Abnormality of the respiratory system	55790	CSGALNACT1	OMIM:618870
HP:0002086	Abnormality of the respiratory system	84987	COX14	OMIM:619053
HP:0002086	Abnormality of the respiratory system	2917	GRM7	OMIM:618922
HP:0002086	Abnormality of the respiratory system	9820	CUL7	OMIM:273750
HP:0002086	Abnormality of the respiratory system	1339	COX6A2	OMIM:619062
HP:0002086	Abnormality of the respiratory system	4905	NSF	OMIM:619340
HP:0002086	Abnormality of the respiratory system	132158	GLYCTK	OMIM:220120
HP:0002086	Abnormality of the respiratory system	57061	HYMAI	ORPHA:96191
HP:0002086	Abnormality of the respiratory system	5325	PLAGL1	ORPHA:96191
HP:0002086	Abnormality of the respiratory system	4576	MT-TT	ORPHA:254857
HP:0002086	Abnormality of the respiratory system	145258	GSC	OMIM:602471
HP:0002086	Abnormality of the respiratory system	8567	MADD	OMIM:619004
HP:0002086	Abnormality of the respiratory system	8567	MADD	OMIM:619005
HP:0002086	Abnormality of the respiratory system	8647	ABCB11	ORPHA:69665
HP:0002086	Abnormality of the respiratory system	5244	ABCB4	ORPHA:69665
HP:0002086	Abnormality of the respiratory system	124583	CANT1	OMIM:251450
HP:0002086	Abnormality of the respiratory system	5331	PLCB3	OMIM:618961
HP:0002086	Abnormality of the respiratory system	10463	SLC30A9	OMIM:617595
HP:0002086	Abnormality of the respiratory system	1301	COL11A1	OMIM:154780
HP:0002086	Abnormality of the respiratory system	1513	CTSK	OMIM:265800
HP:0002086	Abnormality of the respiratory system	4591	TRIM37	OMIM:253250
HP:0002086	Abnormality of the respiratory system	6424	SFRP4	OMIM:265900
HP:0002086	Abnormality of the respiratory system	257	ALX3	OMIM:136760
HP:0002086	Abnormality of the respiratory system	257	ALX3	ORPHA:391474
HP:0002086	Abnormality of the respiratory system	2673	GFPT1	OMIM:608931
HP:0002086	Abnormality of the respiratory system	64419	MTMR14	ORPHA:169189
HP:0002086	Abnormality of the respiratory system	4618	MYF6	ORPHA:169189
HP:0002086	Abnormality of the respiratory system	22880	MORC2	ORPHA:466768
HP:0002086	Abnormality of the respiratory system	84197	POMK	OMIM:615249
HP:0002086	Abnormality of the respiratory system	84876	ORAI1	OMIM:612782
HP:0002086	Abnormality of the respiratory system	80208	SPG11	OMIM:602099
HP:0002086	Abnormality of the respiratory system	57449	PLEKHG5	OMIM:611067
HP:0002086	Abnormality of the respiratory system	1674	DES	OMIM:601419
HP:0002086	Abnormality of the respiratory system	1674	DES	ORPHA:98909
HP:0002086	Abnormality of the respiratory system	51244	CCDC174	OMIM:616816
HP:0002086	Abnormality of the respiratory system	2010	EMD	ORPHA:98863
HP:0002086	Abnormality of the respiratory system	23676	SMPX	OMIM:301075
HP:0002086	Abnormality of the respiratory system	9927	MFN2	OMIM:617087
HP:0002086	Abnormality of the respiratory system	8803	SUCLA2	OMIM:612073
HP:0002086	Abnormality of the respiratory system	8291	DYSF	ORPHA:45448
HP:0002086	Abnormality of the respiratory system	23534	TNPO3	OMIM:608423
HP:0002086	Abnormality of the respiratory system	79188	TMEM43	ORPHA:98853
HP:0002086	Abnormality of the respiratory system	9719	ADAMTSL2	OMIM:231050
HP:0002086	Abnormality of the respiratory system	11146	GLMN	ORPHA:83454
HP:0002086	Abnormality of the respiratory system	6125	RPL5	OMIM:612561
HP:0002086	Abnormality of the respiratory system	80232	WDR26	ORPHA:513456
HP:0002086	Abnormality of the respiratory system	58508	KMT2C	ORPHA:261652
HP:0002086	Abnormality of the respiratory system	8642	DCHS1	ORPHA:314679
HP:0002086	Abnormality of the respiratory system	8642	DCHS1	OMIM:601390
HP:0002086	Abnormality of the respiratory system	29072	SETD2	OMIM:620155
HP:0002086	Abnormality of the respiratory system	57688	ZSWIM6	ORPHA:1827
HP:0002086	Abnormality of the respiratory system	57688	ZSWIM6	OMIM:603671
HP:0002086	Abnormality of the respiratory system	6452	SH3BP2	ORPHA:184
HP:0002086	Abnormality of the respiratory system	213	ALB	OMIM:616000
HP:0002086	Abnormality of the respiratory system	213	ALB	ORPHA:86816
HP:0002086	Abnormality of the respiratory system	3932	LCK	OMIM:615758
HP:0002086	Abnormality of the respiratory system	959	CD40LG	OMIM:308230
HP:0002086	Abnormality of the respiratory system	79759	ZNF668	OMIM:620194
HP:0002086	Abnormality of the respiratory system	11151	CORO1A	OMIM:615401
HP:0002086	Abnormality of the respiratory system	8547	FCN3	OMIM:613860
HP:0002086	Abnormality of the respiratory system	10525	HYOU1	OMIM:233600
HP:0002086	Abnormality of the respiratory system	4780	NFE2L2	OMIM:617744
HP:0002086	Abnormality of the respiratory system	5591	PRKDC	OMIM:615966
HP:0002086	Abnormality of the respiratory system	57609	DIP2B	OMIM:136630
HP:0002086	Abnormality of the respiratory system	4718	NDUFC2	OMIM:619170
HP:0002086	Abnormality of the respiratory system	3978	LIG1	OMIM:619774
HP:0002086	Abnormality of the respiratory system	2530	FUT8	OMIM:618005
HP:0002086	Abnormality of the respiratory system	50628	GEMIN4	OMIM:617913
HP:0002086	Abnormality of the respiratory system	92344	GORAB	OMIM:231070
HP:0002086	Abnormality of the respiratory system	7407	VARS1	OMIM:617802
HP:0002086	Abnormality of the respiratory system	6304	SATB1	OMIM:619229
HP:0002086	Abnormality of the respiratory system	222663	SCUBE3	OMIM:619184
HP:0002086	Abnormality of the respiratory system	6448	SGSH	OMIM:252900
HP:0002086	Abnormality of the respiratory system	3953	LEPR	OMIM:614963
HP:0002086	Abnormality of the respiratory system	3953	LEPR	ORPHA:179494
HP:0002086	Abnormality of the respiratory system	920	CD4	OMIM:619238
HP:0002086	Abnormality of the respiratory system	3570	IL6R	OMIM:618944
HP:0002086	Abnormality of the respiratory system	2799	GNS	OMIM:252940
HP:0002086	Abnormality of the respiratory system	138050	HGSNAT	OMIM:252930
HP:0002086	Abnormality of the respiratory system	7388	UQCRH	OMIM:620137
HP:0002086	Abnormality of the respiratory system	5696	PSMB8	OMIM:256040
HP:0002086	Abnormality of the respiratory system	4669	NAGLU	OMIM:252920
HP:0002086	Abnormality of the respiratory system	54808	DYM	ORPHA:239
HP:0002086	Abnormality of the respiratory system	763	CA5A	OMIM:615751
HP:0002086	Abnormality of the respiratory system	5019	OXCT1	OMIM:245050
HP:0002086	Abnormality of the respiratory system	90624	LYRM7	OMIM:615838
HP:0002086	Abnormality of the respiratory system	10166	SLC25A15	ORPHA:415
HP:0002086	Abnormality of the respiratory system	388753	COA6	OMIM:616501
HP:0002086	Abnormality of the respiratory system	506	ATP5F1B	OMIM:620085
HP:0002086	Abnormality of the respiratory system	6006	RHCE	ORPHA:71275
HP:0002086	Abnormality of the respiratory system	6007	RHD	ORPHA:71275
HP:0002086	Abnormality of the respiratory system	390594	KBTBD13	ORPHA:171439
HP:0002086	Abnormality of the respiratory system	729920	CRPPA	ORPHA:352479
HP:0002086	Abnormality of the respiratory system	4487	MSX1	ORPHA:141291
HP:0002086	Abnormality of the respiratory system	3664	IRF6	ORPHA:141291
HP:0002086	Abnormality of the respiratory system	2767	GNA11	ORPHA:428
HP:0002086	Abnormality of the respiratory system	22854	NTNG1	ORPHA:3095
HP:0002086	Abnormality of the respiratory system	27161	AGO2	OMIM:619149
HP:0002086	Abnormality of the respiratory system	6792	CDKL5	ORPHA:505652
HP:0002086	Abnormality of the respiratory system	2290	FOXG1	OMIM:613454
HP:0002086	Abnormality of the respiratory system	22845	DOLK	OMIM:610768
HP:0002086	Abnormality of the respiratory system	3073	HEXA	OMIM:272800
HP:0002086	Abnormality of the respiratory system	724066	ATXN8	ORPHA:98760
HP:0002086	Abnormality of the respiratory system	6315	ATXN8OS	ORPHA:98760
HP:0002086	Abnormality of the respiratory system	22872	SEC31A	OMIM:618651
HP:0002086	Abnormality of the respiratory system	64801	ARV1	OMIM:617020
HP:0002086	Abnormality of the respiratory system	1641	DCX	ORPHA:2148
HP:0002086	Abnormality of the respiratory system	2760	GM2A	OMIM:272750
HP:0002086	Abnormality of the respiratory system	3588	IL10RB	OMIM:612567
HP:0002086	Abnormality of the respiratory system	6901	TAFAZZIN	OMIM:302060
HP:0002086	Abnormality of the respiratory system	23126	POGZ	OMIM:616364
HP:0002086	Abnormality of the respiratory system	23126	POGZ	ORPHA:468678
HP:0002086	Abnormality of the respiratory system	8087	FXR1	OMIM:618822
HP:0002086	Abnormality of the respiratory system	8087	FXR1	OMIM:618823
HP:0002086	Abnormality of the respiratory system	285175	UNC80	ORPHA:371364
HP:0002086	Abnormality of the respiratory system	781	CACNA2D1	OMIM:620149
HP:0002086	Abnormality of the respiratory system	2887	GRB10	ORPHA:96182
HP:0002086	Abnormality of the respiratory system	51611	DPH5	OMIM:620070
HP:0002086	Abnormality of the respiratory system	5575	PRKAR1B	OMIM:619680
HP:0002086	Abnormality of the respiratory system	7750	ZMYM2	OMIM:619522
HP:0002086	Abnormality of the respiratory system	4841	NONO	ORPHA:466791
HP:0002086	Abnormality of the respiratory system	8888	MCM3AP	OMIM:618124
HP:0002086	Abnormality of the respiratory system	57479	PRR12	OMIM:619539
HP:0002086	Abnormality of the respiratory system	9401	RECQL4	OMIM:218600
HP:0002086	Abnormality of the respiratory system	4340	MOG	OMIM:614250
HP:0002086	Abnormality of the respiratory system	372	ARCN1	OMIM:617164
HP:0002086	Abnormality of the respiratory system	1822	ATN1	OMIM:618494
HP:0002086	Abnormality of the respiratory system	1642	DDB1	OMIM:619426
HP:0002086	Abnormality of the respiratory system	55770	EXOC2	OMIM:619306
HP:0002086	Abnormality of the respiratory system	9230	RAB11B	OMIM:617807
HP:0002086	Abnormality of the respiratory system	54902	TTC19	OMIM:615157
HP:0002086	Abnormality of the respiratory system	10716	TBR1	ORPHA:1617
HP:0002086	Abnormality of the respiratory system	10019	SH2B3	OMIM:133100
HP:0002086	Abnormality of the respiratory system	1727	CYB5R3	OMIM:250800
HP:0002086	Abnormality of the respiratory system	1727	CYB5R3	ORPHA:621
HP:0002086	Abnormality of the respiratory system	84334	COA8	ORPHA:436271
HP:0002086	Abnormality of the respiratory system	1528	CYB5A	ORPHA:621
HP:0002086	Abnormality of the respiratory system	34	ACADM	ORPHA:42
HP:0002086	Abnormality of the respiratory system	4634	MYL3	OMIM:608751
HP:0002086	Abnormality of the respiratory system	5837	PYGM	ORPHA:368
HP:0002086	Abnormality of the respiratory system	2992	GYG1	ORPHA:263297
HP:0002086	Abnormality of the respiratory system	7385	UQCRC2	OMIM:615160
HP:0002086	Abnormality of the respiratory system	3190	HNRNPK	ORPHA:453504
HP:0002086	Abnormality of the respiratory system	3190	HNRNPK	ORPHA:352665
HP:0002086	Abnormality of the respiratory system	3728	JUP	ORPHA:158687
HP:0002086	Abnormality of the respiratory system	26580	BSCL2	ORPHA:363400
HP:0002086	Abnormality of the respiratory system	101060691	NUTM2B-AS1	OMIM:618637
HP:0002086	Abnormality of the respiratory system	23511	NUP188	OMIM:618804
HP:0002086	Abnormality of the respiratory system	4547	MTTP	ORPHA:14
HP:0002086	Abnormality of the respiratory system	191	AHCY	ORPHA:88618
HP:0002086	Abnormality of the respiratory system	84896	ATAD1	OMIM:618011
HP:0002086	Abnormality of the respiratory system	56052	ALG1	ORPHA:79327
HP:0002086	Abnormality of the respiratory system	128240	NAXE	OMIM:617186
HP:0002086	Abnormality of the respiratory system	1605	DAG1	OMIM:616538
HP:0002086	Abnormality of the respiratory system	7284	TUFM	OMIM:610678
HP:0002086	Abnormality of the respiratory system	2065	ERBB3	OMIM:607598
HP:0002086	Abnormality of the respiratory system	6310	ATXN1	ORPHA:98755
HP:0002086	Abnormality of the respiratory system	55005	RMND1	OMIM:614922
HP:0002086	Abnormality of the respiratory system	115286	SLC25A26	OMIM:616794
HP:0002086	Abnormality of the respiratory system	9054	NFS1	OMIM:619386
HP:0002086	Abnormality of the respiratory system	64116	SLC39A8	ORPHA:468699
HP:0002086	Abnormality of the respiratory system	10667	FARS2	ORPHA:466722
HP:0002086	Abnormality of the respiratory system	25792	CIZ1	ORPHA:420492
HP:0002086	Abnormality of the respiratory system	11011	TLK2	OMIM:618050
HP:0002086	Abnormality of the respiratory system	1137	CHRNA4	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	1135	CHRNA2	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	57010	CABP4	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	1141	CHRNB2	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	57582	KCNT1	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	1392	CRH	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	9681	DEPDC5	ORPHA:98784
HP:0002086	Abnormality of the respiratory system	6513	SLC2A1	ORPHA:64280
HP:0002086	Abnormality of the respiratory system	2562	GABRB3	ORPHA:64280
HP:0002086	Abnormality of the respiratory system	2554	GABRA1	ORPHA:64280
HP:0002086	Abnormality of the respiratory system	8912	CACNA1H	ORPHA:64280
HP:0002086	Abnormality of the respiratory system	8629	JRK	ORPHA:64280
HP:0002086	Abnormality of the respiratory system	7386	UQCRFS1	OMIM:618775
HP:0002086	Abnormality of the respiratory system	9378	NRXN1	OMIM:614325
HP:0002086	Abnormality of the respiratory system	3181	HNRNPA2B1	ORPHA:52430
HP:0002086	Abnormality of the respiratory system	4286	MITF	ORPHA:895
HP:0002086	Abnormality of the respiratory system	7299	TYR	ORPHA:895
HP:0002086	Abnormality of the respiratory system	6591	SNAI2	ORPHA:895
HP:0002086	Abnormality of the respiratory system	1910	EDNRB	ORPHA:895
HP:0002086	Abnormality of the respiratory system	4254	KITLG	ORPHA:895
HP:0002086	Abnormality of the respiratory system	6663	SOX10	ORPHA:895
HP:0002086	Abnormality of the respiratory system	4000	LMNA	ORPHA:363618
HP:0002086	Abnormality of the respiratory system	4000	LMNA	ORPHA:79474
HP:0002086	Abnormality of the respiratory system	145173	B3GLCT	ORPHA:709
HP:0002086	Abnormality of the respiratory system	5080	PAX6	ORPHA:1065
HP:0002086	Abnormality of the respiratory system	3708	ITPR1	ORPHA:1065
HP:0002086	Abnormality of the respiratory system	55109	AGGF1	ORPHA:90308
HP:0002086	Abnormality of the respiratory system	673	BRAF	ORPHA:500
HP:0002086	Abnormality of the respiratory system	9968	MED12	OMIM:301068
HP:0002086	Abnormality of the respiratory system	2006	ELN	OMIM:185500
HP:0002086	Abnormality of the respiratory system	2294	FOXF1	OMIM:265380
HP:0002086	Abnormality of the respiratory system	137814	NKX2-6	ORPHA:3384
HP:0002086	Abnormality of the respiratory system	23129	PLXND1	ORPHA:3384
HP:0002086	Abnormality of the respiratory system	6134	RPL10	OMIM:300998
HP:0002086	Abnormality of the respiratory system	6134	RPL10	ORPHA:459070
HP:0002086	Abnormality of the respiratory system	6134	RPL10	ORPHA:435938
HP:0002086	Abnormality of the respiratory system	81031	SLC2A10	OMIM:208050
HP:0002086	Abnormality of the respiratory system	81031	SLC2A10	ORPHA:3342
HP:0002086	Abnormality of the respiratory system	8260	NAA10	OMIM:300855
HP:0002086	Abnormality of the respiratory system	8260	NAA10	ORPHA:276432
HP:0002086	Abnormality of the respiratory system	1272	CNTN1	OMIM:612540
HP:0002086	Abnormality of the respiratory system	10082	GPC6	OMIM:258315
HP:0002086	Abnormality of the respiratory system	9487	PIGL	OMIM:280000
HP:0002086	Abnormality of the respiratory system	64919	BCL11B	OMIM:617237
HP:0002086	Abnormality of the respiratory system	57514	ARHGAP31	OMIM:100300
HP:0002086	Abnormality of the respiratory system	2627	GATA6	ORPHA:2255
HP:0002086	Abnormality of the respiratory system	2627	GATA6	OMIM:600001
HP:0002086	Abnormality of the respiratory system	22800	RRAS2	ORPHA:648
HP:0002086	Abnormality of the respiratory system	867	CBL	ORPHA:648
HP:0002086	Abnormality of the respiratory system	8216	LZTR1	ORPHA:648
HP:0002086	Abnormality of the respiratory system	6016	RIT1	ORPHA:648
HP:0002086	Abnormality of the respiratory system	6237	RRAS	ORPHA:648
HP:0002086	Abnormality of the respiratory system	5894	RAF1	ORPHA:648
HP:0002086	Abnormality of the respiratory system	22808	MRAS	ORPHA:648
HP:0002086	Abnormality of the respiratory system	3845	KRAS	ORPHA:648
HP:0002086	Abnormality of the respiratory system	200734	SPRED2	ORPHA:648
HP:0002086	Abnormality of the respiratory system	4893	NRAS	ORPHA:648
HP:0002086	Abnormality of the respiratory system	6654	SOS1	ORPHA:648
HP:0002086	Abnormality of the respiratory system	6655	SOS2	ORPHA:648
HP:0002086	Abnormality of the respiratory system	5781	PTPN11	ORPHA:648
HP:0002086	Abnormality of the respiratory system	5922	RASA2	ORPHA:648
HP:0002086	Abnormality of the respiratory system	7486	WRN	ORPHA:902
HP:0002086	Abnormality of the respiratory system	54361	WNT4	OMIM:611812
HP:0002086	Abnormality of the respiratory system	9839	ZEB2	OMIM:235730
HP:0002086	Abnormality of the respiratory system	415	ARSL	ORPHA:79345
HP:0002086	Abnormality of the respiratory system	1186	CLCN7	ORPHA:667
HP:0002086	Abnormality of the respiratory system	29887	SNX10	ORPHA:667
HP:0002086	Abnormality of the respiratory system	8600	TNFSF11	ORPHA:667
HP:0002086	Abnormality of the respiratory system	2626	GATA4	ORPHA:251071
HP:0002086	Abnormality of the respiratory system	5422	POLA1	OMIM:301030
HP:0002086	Abnormality of the respiratory system	2623	GATA1	OMIM:190685
HP:0002086	Abnormality of the respiratory system	4256	MGP	ORPHA:85202
HP:0002086	Abnormality of the respiratory system	92002	CCNQ	ORPHA:140952
HP:0002086	Abnormality of the respiratory system	1482	NKX2-5	OMIM:614432
HP:0002086	Abnormality of the respiratory system	388015	RTL1	ORPHA:96334
HP:0002086	Abnormality of the respiratory system	8788	DLK1	ORPHA:96334
HP:0002086	Abnormality of the respiratory system	55384	MEG3	ORPHA:96334
HP:0002086	Abnormality of the respiratory system	6628	SNRPB	OMIM:117650
HP:0002086	Abnormality of the respiratory system	26146	TRAF3IP1	OMIM:616629
HP:0002086	Abnormality of the respiratory system	3835	KIF22	ORPHA:93360
HP:0002086	Abnormality of the respiratory system	9509	ADAMTS2	OMIM:225410
HP:0002086	Abnormality of the respiratory system	4633	MYL2	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	3679	ITGA7	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	7169	TPM2	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	9200	HACD1	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	7170	TPM3	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	51776	MAP3K20	ORPHA:2020
HP:0002086	Abnormality of the respiratory system	3908	LAMA2	ORPHA:258
HP:0002086	Abnormality of the respiratory system	8573	CASK	OMIM:300749
HP:0002086	Abnormality of the respiratory system	4204	MECP2	OMIM:312750
HP:0002086	Abnormality of the respiratory system	6925	TCF4	OMIM:610954
HP:0002086	Abnormality of the respiratory system	26047	CNTNAP2	ORPHA:163681
HP:0002086	Abnormality of the respiratory system	2203	FBP1	ORPHA:348
HP:0002086	Abnormality of the respiratory system	4535	MT-ND1	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4536	MT-ND2	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4537	MT-ND3	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4538	MT-ND4	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4567	MT-TL1	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4578	MT-TW	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4577	MT-TV	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4508	MT-ATP6	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4540	MT-ND5	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4541	MT-ND6	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	4566	MT-TK	ORPHA:255210
HP:0002086	Abnormality of the respiratory system	60482	SLC5A7	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	4649	MYO9A	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	1305	COL13A1	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	1103	CHAT	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	6576	SLC25A1	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	6843	VAMP1	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	375790	AGRN	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	127833	SYT2	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	6572	SLC18A3	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	6616	SNAP25	ORPHA:98914
HP:0002086	Abnormality of the respiratory system	11340	EXOSC8	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	5393	EXOSC9	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	23287	AGTPBP1	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	51010	EXOSC3	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	7443	VRK1	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	91137	SLC25A46	ORPHA:2254
HP:0002086	Abnormality of the respiratory system	23114	NFASC	OMIM:618356
HP:0002086	Abnormality of the respiratory system	4534	MTM1	ORPHA:596
HP:0002086	Abnormality of the respiratory system	4534	MTM1	OMIM:310400
HP:0002086	Abnormality of the respiratory system	6904	TBCD	ORPHA:496641
HP:0002086	Abnormality of the respiratory system	79158	GNPTAB	ORPHA:576
HP:0002086	Abnormality of the respiratory system	1438	CSF2RA	ORPHA:264675
HP:0002086	Abnormality of the respiratory system	6609	SMPD1	ORPHA:77293
HP:0002086	Abnormality of the respiratory system	5631	PRPS1	ORPHA:1187
HP:0002086	Abnormality of the respiratory system	4556	MT-TE	ORPHA:254864
HP:0002086	Abnormality of the respiratory system	55687	TRMU	ORPHA:254864
HP:0002086	Abnormality of the respiratory system	84842	HPDL	OMIM:619026
HP:0002086	Abnormality of the respiratory system	2548	GAA	ORPHA:308552
HP:0002086	Abnormality of the respiratory system	1806	DPYD	ORPHA:1675
HP:0002086	Abnormality of the respiratory system	10342	TFG	ORPHA:90117
HP:0002086	Abnormality of the respiratory system	284184	NDUFAF8	OMIM:618776
HP:0002086	Abnormality of the respiratory system	113278	SLC52A3	OMIM:211530
HP:0002086	Abnormality of the respiratory system	84172	POLR1B	OMIM:618939
HP:0002086	Abnormality of the respiratory system	7187	TRAF3	ORPHA:1930
HP:0002086	Abnormality of the respiratory system	81622	UNC93B1	ORPHA:1930
HP:0002086	Abnormality of the respiratory system	148022	TICAM1	ORPHA:1930
HP:0002086	Abnormality of the respiratory system	7098	TLR3	ORPHA:1930
HP:0002086	Abnormality of the respiratory system	29110	TBK1	ORPHA:1930
HP:0002086	Abnormality of the respiratory system	1134	CHRNA1	OMIM:601462
HP:0002086	Abnormality of the respiratory system	7273	TTN	ORPHA:324604
HP:0002086	Abnormality of the respiratory system	3777	KCNK3	OMIM:615344
HP:0002086	Abnormality of the respiratory system	4629	MYH11	OMIM:619351
HP:0002086	Abnormality of the respiratory system	57731	SPTBN4	OMIM:617519
HP:0002086	Abnormality of the respiratory system	2137	EXTL3	ORPHA:508533
HP:0002086	Abnormality of the respiratory system	4089	SMAD4	OMIM:139210
HP:0002086	Abnormality of the respiratory system	171019	ADAMTS19	OMIM:620067
HP:0002086	Abnormality of the respiratory system	5337	PLD1	OMIM:212093
HP:0002086	Abnormality of the respiratory system	78987	CRELD1	OMIM:606217
HP:0002086	Abnormality of the respiratory system	2324	FLT4	OMIM:618780
HP:0002086	Abnormality of the respiratory system	8772	FADD	OMIM:613759
HP:0002086	Abnormality of the respiratory system	8772	FADD	ORPHA:306550
HP:0002086	Abnormality of the respiratory system	55593	OTUD5	OMIM:301056
HP:0002086	Abnormality of the respiratory system	1857	DVL3	OMIM:616894
HP:0002086	Abnormality of the respiratory system	168507	PKD1L1	OMIM:617205
HP:0002086	Abnormality of the respiratory system	118924	FRA10AC1	OMIM:620113
HP:0002086	Abnormality of the respiratory system	633	BGN	OMIM:300989
HP:0002086	Abnormality of the respiratory system	55181	SMG8	OMIM:619268
HP:0002086	Abnormality of the respiratory system	84720	PIGO	OMIM:614749
HP:0002086	Abnormality of the respiratory system	112752	IFT43	OMIM:614099
HP:0002086	Abnormality of the respiratory system	9652	SKIC3	ORPHA:84064
HP:0002086	Abnormality of the respiratory system	6499	SKIC2	ORPHA:84064
HP:0002086	Abnormality of the respiratory system	5500	PPP1CB	OMIM:617506
HP:0002086	Abnormality of the respiratory system	6210	RPS15A	OMIM:618313
HP:0002086	Abnormality of the respiratory system	123606	NIPA1	ORPHA:261183
HP:0002086	Abnormality of the respiratory system	7283	TUBG1	ORPHA:261183
HP:0002086	Abnormality of the respiratory system	81614	NIPA2	ORPHA:261183
HP:0002086	Abnormality of the respiratory system	998	CDC42	ORPHA:487796
HP:0002086	Abnormality of the respiratory system	93	ACVR2B	OMIM:613751
HP:0002086	Abnormality of the respiratory system	220136	CFAP53	OMIM:614779
HP:0002086	Abnormality of the respiratory system	118856	MMP21	OMIM:616749
HP:0002086	Abnormality of the respiratory system	10491	CRTAP	OMIM:610682
HP:0002086	Abnormality of the respiratory system	2657	GDF1	OMIM:613854
HP:0002086	Abnormality of the respiratory system	340419	RSPO2	OMIM:618021
HP:0002086	Abnormality of the respiratory system	2263	FGFR2	ORPHA:2363
HP:0002086	Abnormality of the respiratory system	2255	FGF10	ORPHA:2363
HP:0002086	Abnormality of the respiratory system	51135	IRAK4	ORPHA:70592
HP:0002086	Abnormality of the respiratory system	25981	DNAH1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	115948	ODAD3	ORPHA:244
HP:0002086	Abnormality of the respiratory system	54768	HYDIN	ORPHA:244
HP:0002086	Abnormality of the respiratory system	352909	DNAAF3	ORPHA:244
HP:0002086	Abnormality of the respiratory system	27148	STK36	ORPHA:244
HP:0002086	Abnormality of the respiratory system	51314	NME8	ORPHA:244
HP:0002086	Abnormality of the respiratory system	92749	DRC1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	54970	TTC12	ORPHA:244
HP:0002086	Abnormality of the respiratory system	152110	NEK10	ORPHA:244
HP:0002086	Abnormality of the respiratory system	8481	OFD1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	2302	FOXJ1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	85478	CCDC65	ORPHA:244
HP:0002086	Abnormality of the respiratory system	55036	CCDC40	ORPHA:244
HP:0002086	Abnormality of the respiratory system	51364	ZMYND10	ORPHA:244
HP:0002086	Abnormality of the respiratory system	64446	DNAI2	ORPHA:244
HP:0002086	Abnormality of the respiratory system	6674	SPAG1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	83544	DNAL1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	83538	ODAD4	ORPHA:244
HP:0002086	Abnormality of the respiratory system	200373	CFAP221	ORPHA:244
HP:0002086	Abnormality of the respiratory system	374407	DNAJB13	ORPHA:244
HP:0002086	Abnormality of the respiratory system	55172	DNAAF2	ORPHA:244
HP:0002086	Abnormality of the respiratory system	2622	GAS8	ORPHA:244
HP:0002086	Abnormality of the respiratory system	23639	DNAAF11	ORPHA:244
HP:0002086	Abnormality of the respiratory system	27019	DNAI1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	345895	RSPH4A	ORPHA:244
HP:0002086	Abnormality of the respiratory system	54919	DNAAF5	ORPHA:244
HP:0002086	Abnormality of the respiratory system	6103	RPGR	ORPHA:244
HP:0002086	Abnormality of the respiratory system	388389	CCDC103	ORPHA:244
HP:0002086	Abnormality of the respiratory system	93233	ODAD1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	55130	ODAD2	ORPHA:244
HP:0002086	Abnormality of the respiratory system	1767	DNAH5	ORPHA:244
HP:0002086	Abnormality of the respiratory system	56683	CFAP298	ORPHA:244
HP:0002086	Abnormality of the respiratory system	79925	SPEF2	ORPHA:244
HP:0002086	Abnormality of the respiratory system	10309	CCNO	ORPHA:244
HP:0002086	Abnormality of the respiratory system	115399	LRRC56	ORPHA:244
HP:0002086	Abnormality of the respiratory system	139212	DNAAF6	ORPHA:244
HP:0002086	Abnormality of the respiratory system	123872	DNAAF1	ORPHA:244
HP:0002086	Abnormality of the respiratory system	85016	CFAP300	ORPHA:244
HP:0002086	Abnormality of the respiratory system	339829	CCDC39	ORPHA:244
HP:0002086	Abnormality of the respiratory system	8701	DNAH11	ORPHA:244
HP:0002086	Abnormality of the respiratory system	1770	DNAH9	ORPHA:244
HP:0002086	Abnormality of the respiratory system	246176	GAS2L2	ORPHA:244
HP:0002086	Abnormality of the respiratory system	10312	TCIRG1	ORPHA:486
HP:0002086	Abnormality of the respiratory system	1991	ELANE	ORPHA:486
HP:0002086	Abnormality of the respiratory system	2672	GFI1	ORPHA:486
HP:0002086	Abnormality of the respiratory system	6729	SRP54	ORPHA:486
HP:0002086	Abnormality of the respiratory system	81570	CLPB	ORPHA:486
HP:0002086	Abnormality of the respiratory system	23495	TNFRSF13B	OMIM:609529
HP:0002086	Abnormality of the respiratory system	1080	CFTR	ORPHA:498359
HP:0002086	Abnormality of the respiratory system	81704	DOCK8	OMIM:243700
HP:0002086	Abnormality of the respiratory system	6774	STAT3	OMIM:147060
HP:0002086	Abnormality of the respiratory system	7037	TFRC	OMIM:616740
HP:0002086	Abnormality of the respiratory system	60468	BACH2	OMIM:618394
HP:0002086	Abnormality of the respiratory system	23545	ATP6V0A2	ORPHA:2834
HP:0002086	Abnormality of the respiratory system	841	CASP8	OMIM:607271
HP:0002086	Abnormality of the respiratory system	5336	PLCG2	OMIM:614878
HP:0002086	Abnormality of the respiratory system	5336	PLCG2	OMIM:614468
HP:0002086	Abnormality of the respiratory system	5293	PIK3CD	OMIM:615513
HP:0002086	Abnormality of the respiratory system	56259	CTNNBL1	OMIM:619846
HP:0002086	Abnormality of the respiratory system	5294	PIK3CG	OMIM:619802
HP:0002086	Abnormality of the respiratory system	4683	NBN	ORPHA:647
HP:0002086	Abnormality of the respiratory system	10736	SIX2	ORPHA:488437
HP:0002086	Abnormality of the respiratory system	5573	PRKAR1A	ORPHA:280651
HP:0002086	Abnormality of the respiratory system	5144	PDE4D	ORPHA:280651
HP:0002086	Abnormality of the respiratory system	3759	KCNJ2	OMIM:170390
HP:0002086	Abnormality of the respiratory system	9526	MPDU1	ORPHA:79323
HP:0002086	Abnormality of the respiratory system	3852	KRT5	ORPHA:79396
HP:0002086	Abnormality of the respiratory system	3861	KRT14	ORPHA:79396
HP:0002086	Abnormality of the respiratory system	2314	FLII	ORPHA:819
HP:0002086	Abnormality of the respiratory system	23096	IQSEC2	ORPHA:819
HP:0002086	Abnormality of the respiratory system	10743	RAI1	ORPHA:819
HP:0002086	Abnormality of the respiratory system	10743	RAI1	OMIM:182290
HP:0002086	Abnormality of the respiratory system	10522	DEAF1	ORPHA:819
HP:0002086	Abnormality of the respiratory system	37	ACADVL	OMIM:201475
HP:0002086	Abnormality of the respiratory system	1639	DCTN1	OMIM:168605
HP:0002086	Abnormality of the respiratory system	3899	AFF3	OMIM:619297
HP:0002086	Abnormality of the respiratory system	64220	STRA6	OMIM:601186
HP:0002086	Abnormality of the respiratory system	7084	TK2	ORPHA:254875
HP:0002086	Abnormality of the respiratory system	210	ALAD	ORPHA:100924
HP:0002086	Abnormality of the respiratory system	3508	IGHMBP2	OMIM:604320
HP:0002086	Abnormality of the respiratory system	8565	YARS1	OMIM:619418
HP:0002086	Abnormality of the respiratory system	2258	FGF13	OMIM:301058
HP:0002086	Abnormality of the respiratory system	112939	NACC1	ORPHA:500545
HP:0002086	Abnormality of the respiratory system	36	ACADSB	OMIM:610006
HP:0002086	Abnormality of the respiratory system	8398	PLA2G6	ORPHA:35069
HP:0002086	Abnormality of the respiratory system	6331	SCN5A	OMIM:272120
HP:0002086	Abnormality of the respiratory system	4519	MT-CYB	ORPHA:137675
HP:0002086	Abnormality of the respiratory system	23498	HAAO	OMIM:617660
HP:0002086	Abnormality of the respiratory system	7428	VHL	OMIM:193300
HP:0002086	Abnormality of the respiratory system	57057	TBX20	ORPHA:99103
HP:0002086	Abnormality of the respiratory system	4624	MYH6	ORPHA:99103
HP:0002086	Abnormality of the respiratory system	70	ACTC1	ORPHA:99103
HP:0002086	Abnormality of the respiratory system	10370	CITED2	ORPHA:99103
HP:0002086	Abnormality of the respiratory system	8942	KYNU	ORPHA:79155
HP:0002086	Abnormality of the respiratory system	429	ASCL1	ORPHA:99803
HP:0002086	Abnormality of the respiratory system	4726	NDUFS6	OMIM:618232
HP:0002086	Abnormality of the respiratory system	7840	ALMS1	ORPHA:64
HP:0002086	Abnormality of the respiratory system	83861	RSPH3	OMIM:616481
HP:0002086	Abnormality of the respiratory system	5265	SERPINA1	OMIM:613490
HP:0002086	Abnormality of the respiratory system	4625	MYH7	ORPHA:437572
HP:0002086	Abnormality of the respiratory system	5880	RAC2	OMIM:618986
HP:0002086	Abnormality of the respiratory system	7454	WAS	ORPHA:906
HP:0002086	Abnormality of the respiratory system	7456	WIPF1	ORPHA:906
HP:0002086	Abnormality of the respiratory system	1493	CTLA4	ORPHA:900
HP:0002086	Abnormality of the respiratory system	26191	PTPN22	ORPHA:900
HP:0002086	Abnormality of the respiratory system	3115	HLA-DPB1	ORPHA:900
HP:0002086	Abnormality of the respiratory system	5657	PRTN3	ORPHA:900
HP:0002086	Abnormality of the respiratory system	3113	HLA-DPA1	ORPHA:900
HP:0002086	Abnormality of the respiratory system	1312	COMT	ORPHA:567
HP:0002086	Abnormality of the respiratory system	221037	JMJD1C	ORPHA:567
HP:0002086	Abnormality of the respiratory system	2812	GP1BB	ORPHA:567
HP:0002086	Abnormality of the respiratory system	6239	RREB1	ORPHA:567
HP:0002086	Abnormality of the respiratory system	6899	TBX1	ORPHA:567
HP:0002086	Abnormality of the respiratory system	6899	TBX1	OMIM:188400
HP:0002086	Abnormality of the respiratory system	7290	HIRA	ORPHA:567
HP:0002086	Abnormality of the respiratory system	9632	SEC24C	ORPHA:567
HP:0002086	Abnormality of the respiratory system	7353	UFD1	ORPHA:567
HP:0002086	Abnormality of the respiratory system	421	ARVCF	ORPHA:567
HP:0002086	Abnormality of the respiratory system	2717	GLA	ORPHA:324
HP:0002086	Abnormality of the respiratory system	641	BLM	ORPHA:125
HP:0002086	Abnormality of the respiratory system	3162	HMOX1	OMIM:606963
HP:0002086	Abnormality of the respiratory system	4312	MMP1	OMIM:606963
HP:0002086	Abnormality of the respiratory system	89765	RSPH1	OMIM:615481
HP:0002086	Abnormality of the respiratory system	219972	MPEG1	OMIM:619223
HP:0002086	Abnormality of the respiratory system	345643	MCIDAS	OMIM:618695
HP:0002086	Abnormality of the respiratory system	161582	DNAAF4	OMIM:615482
HP:0002086	Abnormality of the respiratory system	146206	CARMIL2	OMIM:618131
HP:0002086	Abnormality of the respiratory system	221421	RSPH9	OMIM:612650
HP:0002086	Abnormality of the respiratory system	79875	THSD4	OMIM:619825
HP:0002086	Abnormality of the respiratory system	4790	NFKB1	OMIM:616576
HP:0002086	Abnormality of the respiratory system	1536	CYBB	ORPHA:379
HP:0002086	Abnormality of the respiratory system	4688	NCF2	ORPHA:379
HP:0002086	Abnormality of the respiratory system	1535	CYBA	ORPHA:379
HP:0002086	Abnormality of the respiratory system	4689	NCF4	ORPHA:379
HP:0002086	Abnormality of the respiratory system	653361	NCF1	ORPHA:379
HP:0002086	Abnormality of the respiratory system	79415	CYBC1	ORPHA:379
HP:0002086	Abnormality of the respiratory system	2972	BRF1	OMIM:616202
HP:0002086	Abnormality of the respiratory system	2972	BRF1	ORPHA:444072
HP:0002086	Abnormality of the respiratory system	427	ASAH1	ORPHA:333
HP:0002086	Abnormality of the respiratory system	5354	PLP1	ORPHA:280210
HP:0002086	Abnormality of the respiratory system	686	BTD	ORPHA:79241
HP:0002086	Abnormality of the respiratory system	89910	UBE3B	OMIM:244450
HP:0002086	Abnormality of the respiratory system	6872	TAF1	ORPHA:53351
HP:0002086	Abnormality of the respiratory system	5071	PRKN	OMIM:211980
HP:0002086	Abnormality of the respiratory system	3659	IRF1	OMIM:211980
HP:0002086	Abnormality of the respiratory system	5002	SLC22A18	OMIM:211980
HP:0002086	Abnormality of the respiratory system	1548	CYP2A6	OMIM:211980
HP:0002086	Abnormality of the respiratory system	2064	ERBB2	OMIM:211980
HP:0002086	Abnormality of the respiratory system	5519	PPP2R1B	OMIM:211980
HP:0002086	Abnormality of the respiratory system	1326	MAP3K8	OMIM:211980
HP:0002086	Abnormality of the respiratory system	25	ABL1	OMIM:617602
HP:0002086	Abnormality of the respiratory system	10735	STAG2	ORPHA:220386
HP:0002086	Abnormality of the respiratory system	10735	STAG2	ORPHA:93925
HP:0002086	Abnormality of the respiratory system	8243	SMC1A	ORPHA:220386
HP:0002086	Abnormality of the respiratory system	6491	STIL	ORPHA:220386
HP:0002086	Abnormality of the respiratory system	6491	STIL	ORPHA:93926
HP:0002086	Abnormality of the respiratory system	6491	STIL	ORPHA:93924
HP:0002086	Abnormality of the respiratory system	6491	STIL	ORPHA:93925
HP:0002086	Abnormality of the respiratory system	84992	PIGY	OMIM:616809
HP:0002086	Abnormality of the respiratory system	23007	PLCH1	ORPHA:93925
HP:0002086	Abnormality of the respiratory system	2304	FOXE1	ORPHA:319487
HP:0002086	Abnormality of the respiratory system	6477	SIAH1	OMIM:619314
HP:0002086	Abnormality of the respiratory system	11133	KPTN	OMIM:615637
HP:0002086	Abnormality of the respiratory system	11133	KPTN	ORPHA:397612
HP:0002086	Abnormality of the respiratory system	4522	MTHFD1	OMIM:617780
HP:0002086	Abnormality of the respiratory system	939	CD27	OMIM:615122
HP:0002086	Abnormality of the respiratory system	10157	AASS	ORPHA:2203
HP:0002086	Abnormality of the respiratory system	4001	LMNB1	OMIM:619179
HP:0002086	Abnormality of the respiratory system	3952	LEP	OMIM:614962
HP:0002086	Abnormality of the respiratory system	8792	TNFRSF11A	OMIM:612301
HP:0002086	Abnormality of the respiratory system	10095	ARPC1B	OMIM:617718
HP:0002086	Abnormality of the respiratory system	54681	P4HTM	OMIM:618493
HP:0002086	Abnormality of the respiratory system	2074	ERCC6	OMIM:214150
HP:0002086	Abnormality of the respiratory system	2328	FMO3	OMIM:602079
HP:0002086	Abnormality of the respiratory system	718	C3	OMIM:613779
HP:0002086	Abnormality of the respiratory system	51341	ZBTB7A	OMIM:619769
HP:0002086	Abnormality of the respiratory system	5317	PKP1	ORPHA:158668
HP:0002086	Abnormality of the respiratory system	5879	RAC1	OMIM:617751
HP:0002086	Abnormality of the respiratory system	5879	RAC1	ORPHA:500159
HP:0002086	Abnormality of the respiratory system	6603	SMARCD2	OMIM:617475
HP:0002086	Abnormality of the respiratory system	10747	MASP2	OMIM:613791
HP:0002086	Abnormality of the respiratory system	284119	CAVIN1	OMIM:613327
HP:0002086	Abnormality of the respiratory system	324	APC	ORPHA:261584
HP:0002086	Abnormality of the respiratory system	28956	LAMTOR2	OMIM:610798
HP:0002086	Abnormality of the respiratory system	28956	LAMTOR2	ORPHA:90023
HP:0002086	Abnormality of the respiratory system	23233	EXOC6B	ORPHA:93359
HP:0002086	Abnormality of the respiratory system	439	GET3	OMIM:620203
HP:0002086	Abnormality of the respiratory system	3920	LAMP2	ORPHA:34587
HP:0002086	Abnormality of the respiratory system	9993	DGCR2	OMIM:192430
HP:0002086	Abnormality of the respiratory system	8220	ESS2	OMIM:192430
HP:0002086	Abnormality of the respiratory system	8214	DGCR6	OMIM:192430
HP:0002086	Abnormality of the respiratory system	54487	DGCR8	OMIM:192430
HP:0002086	Abnormality of the respiratory system	55112	DYNC2I1	ORPHA:474
HP:0002086	Abnormality of the respiratory system	26160	IFT172	ORPHA:474
HP:0002086	Abnormality of the respiratory system	153241	CEP120	ORPHA:474
HP:0002086	Abnormality of the respiratory system	57560	IFT80	ORPHA:474
HP:0002086	Abnormality of the respiratory system	51626	DYNC2LI1	ORPHA:474
HP:0002086	Abnormality of the respiratory system	51626	DYNC2LI1	ORPHA:289
HP:0002086	Abnormality of the respiratory system	79659	DYNC2H1	ORPHA:474
HP:0002086	Abnormality of the respiratory system	9742	IFT140	ORPHA:474
HP:0002086	Abnormality of the respiratory system	57728	WDR19	ORPHA:474
HP:0002086	Abnormality of the respiratory system	89891	DYNC2I2	ORPHA:474
HP:0002086	Abnormality of the respiratory system	79809	TTC21B	ORPHA:474
HP:0002086	Abnormality of the respiratory system	64840	PORCN	ORPHA:2092
HP:0002086	Abnormality of the respiratory system	59341	TRPV4	ORPHA:2635
HP:0002086	Abnormality of the respiratory system	2261	FGFR3	ORPHA:1860
HP:0002086	Abnormality of the respiratory system	2261	FGFR3	ORPHA:93274
HP:0002086	Abnormality of the respiratory system	2317	FLNB	ORPHA:1263
HP:0002086	Abnormality of the respiratory system	1836	SLC26A2	ORPHA:93298
HP:0002086	Abnormality of the respiratory system	9321	TRIP11	ORPHA:93299
HP:0002086	Abnormality of the respiratory system	1131	CHRM3	ORPHA:2970
HP:0002086	Abnormality of the respiratory system	7473	WNT3	ORPHA:3301
HP:0002086	Abnormality of the respiratory system	3239	HOXD13	ORPHA:887
HP:0002086	Abnormality of the respiratory system	5566	PRKACA	ORPHA:289
HP:0002086	Abnormality of the respiratory system	5567	PRKACB	ORPHA:289
HP:0002086	Abnormality of the respiratory system	2735	GLI1	ORPHA:289
HP:0002086	Abnormality of the respiratory system	2121	EVC	ORPHA:289
HP:0002086	Abnormality of the respiratory system	132884	EVC2	ORPHA:289
HP:0002086	Abnormality of the respiratory system	7490	WT1	ORPHA:3097
HP:0002086	Abnormality of the respiratory system	10815	CPLX1	ORPHA:280
HP:0002086	Abnormality of the respiratory system	54872	PIGG	ORPHA:280
HP:0002086	Abnormality of the respiratory system	7469	NELFA	ORPHA:280
HP:0002086	Abnormality of the respiratory system	1487	CTBP1	ORPHA:280
HP:0002086	Abnormality of the respiratory system	3954	LETM1	ORPHA:280
HP:0002086	Abnormality of the respiratory system	7468	NSD2	ORPHA:280
HP:0002086	Abnormality of the respiratory system	126792	B3GALT6	ORPHA:2725
HP:0002086	Abnormality of the respiratory system	23347	SMCHD1	OMIM:603457
HP:0002086	Abnormality of the respiratory system	3198	HOXA1	OMIM:601536
HP:0002086	Abnormality of the respiratory system	22858	CILK1	OMIM:612651
HP:0002086	Abnormality of the respiratory system	27152	INTU	OMIM:617925
HP:0002086	Abnormality of the respiratory system	5396	PRRX1	OMIM:202650
HP:0002086	Abnormality of the respiratory system	10262	SF3B4	OMIM:154400
HP:0002086	Abnormality of the respiratory system	6650	CAPN15	OMIM:619318
HP:0002086	Abnormality of the respiratory system	55294	FBXW7	OMIM:620012
HP:0002086	Abnormality of the respiratory system	55023	PHIP	OMIM:617991
HP:0002086	Abnormality of the respiratory system	6711	SPTBN1	OMIM:619475
HP:0002086	Abnormality of the respiratory system	26005	C2CD3	OMIM:615948
HP:0002086	Abnormality of the respiratory system	26005	C2CD3	ORPHA:434179
HP:0002086	Abnormality of the respiratory system	9775	EIF4A3	OMIM:268305
HP:0002086	Abnormality of the respiratory system	23065	EMC1	OMIM:616875
HP:0002086	Abnormality of the respiratory system	23065	EMC1	ORPHA:480898
HP:0002086	Abnormality of the respiratory system	3098	HK1	OMIM:618547
HP:0002086	Abnormality of the respiratory system	8295	TRRAP	OMIM:618454
HP:0002086	Abnormality of the respiratory system	4796	TONSL	OMIM:271510
HP:0002086	Abnormality of the respiratory system	29967	LRP12	OMIM:164310
HP:0002086	Abnormality of the respiratory system	8092	ALX1	ORPHA:306542
HP:0002086	Abnormality of the respiratory system	182	JAG1	OMIM:619574
HP:0002086	Abnormality of the respiratory system	27235	COQ2	ORPHA:227510
HP:0002086	Abnormality of the respiratory system	27235	COQ2	ORPHA:98933
HP:0002086	Abnormality of the respiratory system	6571	SLC18A2	ORPHA:352649
HP:0002086	Abnormality of the respiratory system	7849	PAX8	OMIM:218700
HP:0002086	Abnormality of the respiratory system	84705	GTPBP3	ORPHA:444013
HP:0002086	Abnormality of the respiratory system	199857	ALG14	OMIM:619036
HP:0002086	Abnormality of the respiratory system	2303	FOXC2	OMIM:153400
HP:0002086	Abnormality of the respiratory system	5921	RASA1	ORPHA:137667
HP:0002086	Abnormality of the respiratory system	5604	MAP2K1	OMIM:163950
HP:0002086	Abnormality of the respiratory system	7291	TWIST1	ORPHA:794
HP:0002086	Abnormality of the respiratory system	2615	LRRC32	OMIM:619074
HP:0002086	Abnormality of the respiratory system	6197	RPS6KA3	ORPHA:192
HP:0002086	Abnormality of the respiratory system	54892	NCAPG2	OMIM:618460
HP:0002086	Abnormality of the respiratory system	10060	ABCC9	OMIM:619719
HP:0002086	Abnormality of the respiratory system	8405	SPOP	OMIM:618829
HP:0002086	Abnormality of the respiratory system	2934	GSN	ORPHA:85448
HP:0002086	Abnormality of the respiratory system	65993	MRPS34	OMIM:617664
HP:0002086	Abnormality of the respiratory system	9442	MED27	OMIM:619286
HP:0002086	Abnormality of the respiratory system	473	RERE	OMIM:616975
HP:0002086	Abnormality of the respiratory system	10020	GNE	OMIM:269921
HP:0002086	Abnormality of the respiratory system	10020	GNE	ORPHA:3166
HP:0002086	Abnormality of the respiratory system	51574	LARP7	ORPHA:319671
HP:0002086	Abnormality of the respiratory system	9049	AIP	ORPHA:963
HP:0002086	Abnormality of the respiratory system	25942	SIN3A	OMIM:613406
HP:0002086	Abnormality of the respiratory system	1801	DPH1	ORPHA:459061
HP:0002086	Abnormality of the respiratory system	57003	CCDC47	OMIM:618268
HP:0002086	Abnormality of the respiratory system	22943	DKK1	ORPHA:268882
HP:0002086	Abnormality of the respiratory system	133686	NADK2	ORPHA:431361
HP:0002086	Abnormality of the respiratory system	10128	LRPPRC	ORPHA:70472
HP:0002086	Abnormality of the respiratory system	8621	CDK13	OMIM:617360
HP:0002086	Abnormality of the respiratory system	8911	CACNA1I	OMIM:620114
HP:0002086	Abnormality of the respiratory system	1718	DHCR24	ORPHA:35107
HP:0002086	Abnormality of the respiratory system	6910	TBX5	ORPHA:392
HP:0002086	Abnormality of the respiratory system	54916	TMEM260	OMIM:617478
HP:0002086	Abnormality of the respiratory system	100128908	CIROP	OMIM:619702
HP:0002086	Abnormality of the respiratory system	54499	TMCO1	OMIM:213980
HP:0002086	Abnormality of the respiratory system	51816	ADA2	OMIM:615688
HP:0002086	Abnormality of the respiratory system	10625	IVNS1ABP	OMIM:618969
HP:0002086	Abnormality of the respiratory system	4194	MDM4	OMIM:618849
HP:0002086	Abnormality of the respiratory system	1147	CHUK	OMIM:613630
HP:0002086	Abnormality of the respiratory system	56160	NSMCE3	OMIM:617241
HP:0002086	Abnormality of the respiratory system	1503	CTPS1	OMIM:615897
HP:0002086	Abnormality of the respiratory system	4868	NPHS1	ORPHA:656
HP:0002086	Abnormality of the respiratory system	23607	CD2AP	ORPHA:656
HP:0002086	Abnormality of the respiratory system	9688	NUP93	ORPHA:656
HP:0002086	Abnormality of the respiratory system	4643	MYO1E	ORPHA:656
HP:0002086	Abnormality of the respiratory system	64423	INF2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	26130	GAPVD1	ORPHA:656
HP:0002086	Abnormality of the respiratory system	51479	ANKFY1	ORPHA:656
HP:0002086	Abnormality of the respiratory system	54443	ANLN	ORPHA:656
HP:0002086	Abnormality of the respiratory system	5800	PTPRO	ORPHA:656
HP:0002086	Abnormality of the respiratory system	286204	CRB2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	23165	NUP205	ORPHA:656
HP:0002086	Abnormality of the respiratory system	2013	EMP2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	79023	NUP37	ORPHA:656
HP:0002086	Abnormality of the respiratory system	51196	PLCE1	ORPHA:656
HP:0002086	Abnormality of the respiratory system	79902	NUP85	ORPHA:656
HP:0002086	Abnormality of the respiratory system	1285	COL4A3	ORPHA:656
HP:0002086	Abnormality of the respiratory system	396	ARHGDIA	ORPHA:656
HP:0002086	Abnormality of the respiratory system	79934	COQ8B	ORPHA:656
HP:0002086	Abnormality of the respiratory system	23279	NUP160	ORPHA:656
HP:0002086	Abnormality of the respiratory system	9863	MAGI2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	7225	TRPC6	ORPHA:656
HP:0002086	Abnormality of the respiratory system	8542	APOL1	ORPHA:656
HP:0002086	Abnormality of the respiratory system	54885	TBC1D8B	ORPHA:656
HP:0002086	Abnormality of the respiratory system	7827	NPHS2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	83478	ARHGAP24	ORPHA:656
HP:0002086	Abnormality of the respiratory system	23500	DAAM2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	5076	PAX2	ORPHA:656
HP:0002086	Abnormality of the respiratory system	55746	NUP133	ORPHA:656
HP:0002086	Abnormality of the respiratory system	9342	SNAP29	OMIM:609528
HP:0002086	Abnormality of the respiratory system	55791	LRIF1	OMIM:619477
HP:0002086	Abnormality of the respiratory system	54809	SAMD9	OMIM:617053
HP:0002086	Abnormality of the respiratory system	55037	PTCD3	OMIM:619057
HP:0002086	Abnormality of the respiratory system	6597	SMARCA4	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	8289	ARID1A	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	5977	DPF2	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	6601	SMARCC2	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	6602	SMARCD1	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	196528	ARID2	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	6664	SOX11	ORPHA:1465
HP:0002086	Abnormality of the respiratory system	5048	PAFAH1B1	ORPHA:95232
HP:0002086	Abnormality of the respiratory system	7314	UBB	ORPHA:99772
HP:0002086	Abnormality of the respiratory system	57822	GRHL3	ORPHA:99772
HP:0002086	Abnormality of the respiratory system	1678	TIMM8A	ORPHA:52368
HP:0002086	Abnormality of the respiratory system	92935	MARS2	OMIM:616430
HP:0002086	Abnormality of the respiratory system	7512	XPNPEP2	ORPHA:100057
HP:0002086	Abnormality of the respiratory system	5340	PLG	OMIM:619360
HP:0002086	Abnormality of the respiratory system	710	SERPING1	ORPHA:100050
HP:0002086	Abnormality of the respiratory system	710	SERPING1	OMIM:106100
HP:0002086	Abnormality of the respiratory system	64711	HS3ST6	OMIM:619367
HP:0002086	Abnormality of the respiratory system	2050	EPHB4	ORPHA:90186
HP:0002086	Abnormality of the respiratory system	30009	TBX21	OMIM:208550
HP:0002086	Abnormality of the respiratory system	5732	PTGER2	OMIM:208550
HP:0002086	Abnormality of the respiratory system	4292	MLH1	OMIM:158320
HP:0002086	Abnormality of the respiratory system	4292	MLH1	ORPHA:587
HP:0002086	Abnormality of the respiratory system	4436	MSH2	OMIM:158320
HP:0002086	Abnormality of the respiratory system	4436	MSH2	ORPHA:587
HP:0002086	Abnormality of the respiratory system	2956	MSH6	ORPHA:587
HP:0002086	Abnormality of the respiratory system	284654	RSPO1	OMIM:610644
HP:0002086	Abnormality of the respiratory system	2131	EXT1	ORPHA:321
HP:0002086	Abnormality of the respiratory system	2132	EXT2	ORPHA:321
HP:0002086	Abnormality of the respiratory system	1281	COL3A1	OMIM:130050
HP:0002086	Abnormality of the respiratory system	5345	SERPINF2	ORPHA:79
HP:0002086	Abnormality of the respiratory system	5345	SERPINF2	OMIM:262850
HP:0002086	Abnormality of the respiratory system	9997	SCO2	OMIM:604377
HP:0002086	Abnormality of the respiratory system	2744	GLS	OMIM:618328
HP:0002086	Abnormality of the respiratory system	16	AARS1	OMIM:619661
HP:0002086	Abnormality of the respiratory system	1308	COL17A1	ORPHA:79406
HP:0002086	Abnormality of the respiratory system	1294	COL7A1	ORPHA:79408
HP:0002086	Abnormality of the respiratory system	1294	COL7A1	ORPHA:79409
HP:0002086	Abnormality of the respiratory system	1294	COL7A1	ORPHA:79410
HP:0002086	Abnormality of the respiratory system	1294	COL7A1	ORPHA:79411
HP:0002086	Abnormality of the respiratory system	158326	FREM1	ORPHA:217266
HP:0002086	Abnormality of the respiratory system	1288	COL4A6	ORPHA:1018
HP:0002086	Abnormality of the respiratory system	1287	COL4A5	ORPHA:1018
HP:0002086	Abnormality of the respiratory system	84071	ARMC2	OMIM:618433
HP:0002086	Abnormality of the respiratory system	2161	F12	OMIM:610618
HP:0002086	Abnormality of the respiratory system	775	CACNA1C	OMIM:601005
HP:0002086	Abnormality of the respiratory system	165918	RNF168	ORPHA:420741
HP:0002086	Abnormality of the respiratory system	23019	CNOT1	ORPHA:556955
HP:0002086	Abnormality of the respiratory system	51651	PTRH2	ORPHA:456312
HP:0002086	Abnormality of the respiratory system	9499	MYOT	ORPHA:266
HP:0002086	Abnormality of the respiratory system	1303	COL12A1	ORPHA:610
HP:0002086	Abnormality of the respiratory system	1291	COL6A1	ORPHA:610
HP:0002086	Abnormality of the respiratory system	1292	COL6A2	ORPHA:610
HP:0002086	Abnormality of the respiratory system	1293	COL6A3	ORPHA:610
HP:0002086	Abnormality of the respiratory system	146845	CFAP52	OMIM:619607
HP:0002086	Abnormality of the respiratory system	5981	RFC1	OMIM:614575
HP:0002086	Abnormality of the respiratory system	10558	SPTLC1	ORPHA:36386
HP:0002086	Abnormality of the respiratory system	25923	ATL3	ORPHA:36386
HP:0002086	Abnormality of the respiratory system	9517	SPTLC2	ORPHA:36386
HP:0002086	Abnormality of the respiratory system	51062	ATL1	ORPHA:36386
HP:0002086	Abnormality of the respiratory system	6049	RNF6	ORPHA:99977
HP:0002086	Abnormality of the respiratory system	51741	WWOX	ORPHA:99977
HP:0002086	Abnormality of the respiratory system	9940	DLEC1	ORPHA:99977
HP:0002086	Abnormality of the respiratory system	38	ACAT1	ORPHA:134
HP:0002086	Abnormality of the respiratory system	80025	PANK2	ORPHA:216866
HP:0002086	Abnormality of the respiratory system	23729	SHPK	ORPHA:440713
HP:0002086	Abnormality of the respiratory system	3284	HSD3B2	ORPHA:90791
HP:0002086	Abnormality of the respiratory system	2584	GALK1	ORPHA:79237
HP:0002086	Abnormality of the respiratory system	27245	AHDC1	ORPHA:412069
HP:0002086	Abnormality of the respiratory system	27245	AHDC1	OMIM:615829
HP:0002086	Abnormality of the respiratory system	5332	PLCB4	OMIM:614669
HP:0002086	Abnormality of the respiratory system	5332	PLCB4	ORPHA:137888
HP:0002086	Abnormality of the respiratory system	1906	EDN1	ORPHA:137888
HP:0002086	Abnormality of the respiratory system	2773	GNAI3	ORPHA:137888
HP:0002086	Abnormality of the respiratory system	2773	GNAI3	OMIM:602483
HP:0002086	Abnormality of the respiratory system	341208	HEPHL1	OMIM:261990
HP:0002086	Abnormality of the respiratory system	83550	GPR101	OMIM:300942
HP:0002086	Abnormality of the respiratory system	2990	GUSB	OMIM:253220
HP:0002086	Abnormality of the respiratory system	5371	PML	ORPHA:520
HP:0002086	Abnormality of the respiratory system	5914	RARA	ORPHA:520
HP:0002086	Abnormality of the respiratory system	81608	FIP1L1	ORPHA:520
HP:0002086	Abnormality of the respiratory system	64859	NABP1	ORPHA:520
HP:0002086	Abnormality of the respiratory system	4926	NUMA1	ORPHA:520
HP:0002086	Abnormality of the respiratory system	7704	ZBTB16	ORPHA:520
HP:0002086	Abnormality of the respiratory system	79718	TBL1XR1	ORPHA:520
HP:0002086	Abnormality of the respiratory system	58484	NLRC4	OMIM:616050
HP:0002086	Abnormality of the respiratory system	846	CASR	OMIM:601198
HP:0002086	Abnormality of the respiratory system	25978	CHMP2B	ORPHA:803
HP:0002086	Abnormality of the respiratory system	3178	HNRNPA1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	8148	TAF15	ORPHA:803
HP:0002086	Abnormality of the respiratory system	5445	PON2	ORPHA:803
HP:0002086	Abnormality of the respiratory system	9217	VAPB	ORPHA:803
HP:0002086	Abnormality of the respiratory system	8878	SQSTM1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	5630	PRPH	ORPHA:803
HP:0002086	Abnormality of the respiratory system	55830	GLT8D1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	755	CFAP410	ORPHA:803
HP:0002086	Abnormality of the respiratory system	10891	PPARGC1A	ORPHA:803
HP:0002086	Abnormality of the respiratory system	6647	SOD1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	10133	OPTN	ORPHA:803
HP:0002086	Abnormality of the respiratory system	9896	FIG4	ORPHA:803
HP:0002086	Abnormality of the respiratory system	5444	PON1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	5446	PON3	ORPHA:803
HP:0002086	Abnormality of the respiratory system	4744	NEFH	ORPHA:803
HP:0002086	Abnormality of the respiratory system	5216	PFN1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	9782	MATR3	ORPHA:803
HP:0002086	Abnormality of the respiratory system	54209	TREM2	ORPHA:803
HP:0002086	Abnormality of the respiratory system	7415	VCP	ORPHA:803
HP:0002086	Abnormality of the respiratory system	283	ANG	ORPHA:803
HP:0002086	Abnormality of the respiratory system	23435	TARDBP	ORPHA:803
HP:0002086	Abnormality of the respiratory system	29978	UBQLN2	ORPHA:803
HP:0002086	Abnormality of the respiratory system	2733	GLE1	ORPHA:803
HP:0002086	Abnormality of the respiratory system	2521	FUS	ORPHA:803
HP:0002086	Abnormality of the respiratory system	2043	EPHA4	ORPHA:803
HP:0002086	Abnormality of the respiratory system	6311	ATXN2	ORPHA:803
HP:0002086	Abnormality of the respiratory system	1610	DAO	ORPHA:803
HP:0002086	Abnormality of the respiratory system	2066	ERBB4	ORPHA:803
HP:0002086	Abnormality of the respiratory system	311	ANXA11	ORPHA:803
HP:0002086	Abnormality of the respiratory system	23025	UNC13A	ORPHA:803
HP:0002086	Abnormality of the respiratory system	899	CCNF	ORPHA:803
HP:0002086	Abnormality of the respiratory system	400916	CHCHD10	ORPHA:803
HP:0002086	Abnormality of the respiratory system	2903	GRIN2A	ORPHA:1945
HP:0002086	Abnormality of the respiratory system	2566	GABRG2	ORPHA:1945
HP:0002086	Abnormality of the respiratory system	65992	DDRGK1	ORPHA:93352
HP:0002086	Abnormality of the respiratory system	1616	DAXX	ORPHA:100075
HP:0002086	Abnormality of the respiratory system	546	ATRX	ORPHA:100075
HP:0002086	Abnormality of the respiratory system	404672	GTF2H5	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	833	CARS1	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	2068	ERCC2	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	7737	RNF113A	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	136647	MPLKIP	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	6897	TARS1	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	2071	ERCC3	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	2961	GTF2E2	ORPHA:33364
HP:0002086	Abnormality of the respiratory system	176	ACAN	OMIM:612813
HP:0002086	Abnormality of the respiratory system	84133	ZNRF3	ORPHA:1501
HP:0002086	Abnormality of the respiratory system	1499	CTNNB1	ORPHA:1501
HP:0002086	Abnormality of the respiratory system	65055	REEP1	OMIM:620011
HP:0002086	Abnormality of the respiratory system	64324	NSD1	ORPHA:821
HP:0002086	Abnormality of the respiratory system	10297	APC2	ORPHA:821
HP:0002086	Abnormality of the respiratory system	161742	SPRED1	ORPHA:137605
HP:0002086	Abnormality of the respiratory system	5205	ATP8B1	OMIM:211600
HP:0002086	Abnormality of the respiratory system	6440	SFTPC	ORPHA:70587
HP:0002086	Abnormality of the respiratory system	21	ABCA3	ORPHA:70587
HP:0002086	Abnormality of the respiratory system	6439	SFTPB	ORPHA:70587
HP:0002086	Abnormality of the respiratory system	7080	NKX2-1	OMIM:610978
HP:0002086	Abnormality of the respiratory system	2022	ENG	OMIM:187300
HP:0002086	Abnormality of the respiratory system	6340	SCNN1G	ORPHA:60033
HP:0002086	Abnormality of the respiratory system	6337	SCNN1A	ORPHA:60033
HP:0002086	Abnormality of the respiratory system	6338	SCNN1B	ORPHA:60033
HP:0002086	Abnormality of the respiratory system	57190	SELENON	ORPHA:97244
HP:0002086	Abnormality of the respiratory system	58	ACTA1	ORPHA:97244
HP:0002086	Abnormality of the respiratory system	8314	BAP1	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	4771	NF2	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	6598	SMARCB1	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	5155	PDGFB	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	84231	TRAF7	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	6608	SMO	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	207	AKT1	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	5290	PIK3CA	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	51684	SUFU	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	6605	SMARCE1	ORPHA:2495
HP:0002086	Abnormality of the respiratory system	659	BMPR2	OMIM:265450
HP:0002086	Abnormality of the respiratory system	440275	EIF2AK4	ORPHA:199241
HP:0002086	Abnormality of the respiratory system	1439	CSF2RB	OMIM:614370
HP:0002086	Abnormality of the respiratory system	6521	SLC4A1	ORPHA:3202
HP:0002086	Abnormality of the respiratory system	6720	SREBF1	OMIM:158310
HP:0002086	Abnormality of the respiratory system	6335	SCN9A	OMIM:167400
HP:0002086	Abnormality of the respiratory system	6392	SDHD	ORPHA:100093
HP:0002086	Abnormality of the respiratory system	7161	TP73	OMIM:619466
HP:0002086	Abnormality of the respiratory system	29969	MDFIC	OMIM:620014
HP:0002086	Abnormality of the respiratory system	10568	SLC34A2	ORPHA:60025
HP:0002086	Abnormality of the respiratory system	29775	CARD10	OMIM:619632
HP:0002086	Abnormality of the respiratory system	7015	TERT	OMIM:614742
HP:0002086	Abnormality of the respiratory system	7015	TERT	OMIM:178500
HP:0002086	Abnormality of the respiratory system	51750	RTEL1	OMIM:616373
HP:0002086	Abnormality of the respiratory system	727897	MUC5B	OMIM:178500
HP:0002086	Abnormality of the respiratory system	729238	SFTPA2	OMIM:178500
HP:0002086	Abnormality of the respiratory system	653509	SFTPA1	OMIM:619611
HP:0002086	Abnormality of the respiratory system	7125	TNNC2	OMIM:620161
HP:0002086	Abnormality of the respiratory system	146862	UNC45B	OMIM:619178
HP:0002086	Abnormality of the respiratory system	3714	JAG2	OMIM:619566
HP:0002086	Abnormality of the respiratory system	89874	SLC25A21	OMIM:618811
HP:0002086	Abnormality of the respiratory system	26092	TOR1AIP1	OMIM:617072
HP:0002086	Abnormality of the respiratory system	154	ADRB2	OMIM:600807
HP:0002086	Abnormality of the respiratory system	240	ALOX5	OMIM:600807
HP:0002086	Abnormality of the respiratory system	7941	PLA2G7	OMIM:600807
HP:0002086	Abnormality of the respiratory system	6356	CCL11	OMIM:600807
HP:0002086	Abnormality of the respiratory system	7124	TNF	OMIM:600807
HP:0002086	Abnormality of the respiratory system	3176	HNMT	OMIM:600807
HP:0002086	Abnormality of the respiratory system	4589	MUC7	OMIM:600807
HP:0002086	Abnormality of the respiratory system	117156	SCGB3A2	OMIM:600807
HP:0002086	Abnormality of the respiratory system	3135	HLA-G	OMIM:600807
HP:0002086	Abnormality of the respiratory system	3596	IL13	OMIM:600807
HP:0002086	Abnormality of the respiratory system	22861	NLRP1	OMIM:618803
HP:0002086	Abnormality of the respiratory system	22861	NLRP1	OMIM:617388
HP:0002086	Abnormality of the respiratory system	25790	CFAP45	OMIM:619608
HP:0002086	Abnormality of the respiratory system	91662	NLRP12	OMIM:611762
HP:0002086	Abnormality of the respiratory system	4359	MPZ	OMIM:607736
HP:0002086	Abnormality of the respiratory system	60558	GUF1	OMIM:617065
HP:0002086	Abnormality of the respiratory system	23095	KIF1B	OMIM:256700
HP:0002086	Abnormality of the respiratory system	27429	HTRA2	OMIM:617248
HP:0002086	Abnormality of the respiratory system	283446	MYO1H	OMIM:619482
HP:0002086	Abnormality of the respiratory system	8021	NUP214	OMIM:618426
HP:0002086	Abnormality of the respiratory system	219854	TMEM218	OMIM:619562
HP:0002086	Abnormality of the respiratory system	1314	COPA	OMIM:616414
HP:0002086	Abnormality of the respiratory system	9056	SLC7A7	OMIM:222700
HP:0002086	Abnormality of the respiratory system	10559	SLC35A1	ORPHA:238459
HP:0002086	Abnormality of the respiratory system	10559	SLC35A1	OMIM:603585
HP:0002086	Abnormality of the respiratory system	10664	CTCF	ORPHA:363611
HP:0002086	Abnormality of the respiratory system	57169	ZNFX1	OMIM:619644
HP:0002086	Abnormality of the respiratory system	89970	RSPRY1	ORPHA:457395
HP:0002086	Abnormality of the respiratory system	64131	XYLT1	OMIM:264800
HP:0002086	Abnormality of the respiratory system	64132	XYLT2	OMIM:264800
HP:0002086	Abnormality of the respiratory system	368	ABCC6	OMIM:264800
HP:0002086	Abnormality of the respiratory system	23149	FCHO1	OMIM:619164
HP:0002086	Abnormality of the respiratory system	1956	EGFR	OMIM:616069
HP:0002086	Abnormality of the respiratory system	25913	POT1	OMIM:616568
HP:0002086	Abnormality of the respiratory system	3248	HPGD	ORPHA:2796
HP:0002086	Abnormality of the respiratory system	6578	SLCO2A1	ORPHA:2796
HP:0002086	Abnormality of the respiratory system	7373	COL14A1	ORPHA:79501
HP:0002086	Abnormality of the respiratory system	79719	AAGAB	ORPHA:79501
HP:0002086	Abnormality of the respiratory system	1029	CDKN2A	ORPHA:524
HP:0002086	Abnormality of the respiratory system	4193	MDM2	ORPHA:524
HP:0002086	Abnormality of the respiratory system	11200	CHEK2	ORPHA:524
HP:0002086	Abnormality of the respiratory system	2130	EWSR1	ORPHA:83469
HP:0002086	Abnormality of the respiratory system	5925	RB1	OMIM:182280
HP:0002086	Abnormality of the respiratory system	65998	ZFTA	ORPHA:251636
HP:0002086	Abnormality of the respiratory system	5970	RELA	ORPHA:251636
HP:0002086	Abnormality of the respiratory system	6794	STK11	ORPHA:2869
HP:0002086	Abnormality of the respiratory system	162514	TRPV3	ORPHA:659
HP:0002086	Abnormality of the respiratory system	64065	PERP	ORPHA:659
HP:0002086	Abnormality of the respiratory system	5978	REST	ORPHA:654
HP:0002086	Abnormality of the respiratory system	129563	DIS3L2	ORPHA:654
HP:0002086	Abnormality of the respiratory system	10155	TRIM28	ORPHA:654
HP:0002086	Abnormality of the respiratory system	11281	POU6F2	ORPHA:654
HP:0002086	Abnormality of the respiratory system	283120	H19	ORPHA:654
HP:0002086	Abnormality of the respiratory system	4665	NAB2	ORPHA:2126
HP:0002086	Abnormality of the respiratory system	6778	STAT6	ORPHA:2126
HP:0002086	Abnormality of the respiratory system	23405	DICER1	OMIM:601200
HP:0002086	Abnormality of the respiratory system	23405	DICER1	OMIM:180295
HP:0002086	Abnormality of the respiratory system	23405	DICER1	ORPHA:276399
HP:0002086	Abnormality of the respiratory system	9817	KEAP1	ORPHA:276399
HP:0002086	Abnormality of the respiratory system	7276	TTR	OMIM:105210
HP:0002086	Abnormality of the respiratory system	847	CAT	ORPHA:926
HP:0002086	Abnormality of the respiratory system	4486	MST1R	OMIM:617075
HP:0002086	Abnormality of the respiratory system	1523	CUX1	OMIM:618330
HP:0002086	Abnormality of the respiratory system	50940	PDE11A	ORPHA:1359
HP:0002086	Abnormality of the respiratory system	54101	RIPK4	ORPHA:1401
HP:0002086	Abnormality of the respiratory system	5077	PAX3	ORPHA:896
HP:0002086	Abnormality of the respiratory system	4247	MGAT2	ORPHA:79329
HP:0002086	Abnormality of the respiratory system	64421	DCLRE1C	ORPHA:275
HP:0002086	Abnormality of the respiratory system	7374	UNG	OMIM:608106
HP:0002086	Abnormality of the respiratory system	2588	GALNS	OMIM:253000
HP:0002087	Abnormality of the upper respiratory tract	100	ADA	ORPHA:277
HP:0002087	Abnormality of the upper respiratory tract	100	ADA	OMIM:102700
HP:0002087	Abnormality of the upper respiratory tract	1789	DNMT3B	OMIM:242860
HP:0002087	Abnormality of the upper respiratory tract	4683	NBN	OMIM:251260
HP:0002087	Abnormality of the upper respiratory tract	2332	FMR1	ORPHA:908
HP:0002087	Abnormality of the upper respiratory tract	4860	PNP	OMIM:613179
HP:0002087	Abnormality of the upper respiratory tract	7454	WAS	ORPHA:906
HP:0002087	Abnormality of the upper respiratory tract	7456	WIPF1	ORPHA:906
HP:0002087	Abnormality of the upper respiratory tract	1493	CTLA4	ORPHA:900
HP:0002087	Abnormality of the upper respiratory tract	3115	HLA-DPB1	ORPHA:900
HP:0002087	Abnormality of the upper respiratory tract	5657	PRTN3	ORPHA:900
HP:0002087	Abnormality of the upper respiratory tract	3113	HLA-DPA1	ORPHA:900
HP:0002087	Abnormality of the upper respiratory tract	3561	IL2RG	OMIM:312863
HP:0002087	Abnormality of the upper respiratory tract	6804	STX1A	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	2947	GSTM3	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	7040	TGFB1	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	2729	GCLC	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	1084	CEACAM3	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	6556	SLC11A1	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	51164	DCTN4	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	3783	KCNN4	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	4282	MIF	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	1909	EDNRA	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	6550	SLC9A3	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	3162	HMOX1	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	115019	SLC26A9	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	3077	HFE	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	11254	SLC6A14	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	5265	SERPINA1	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	1080	CFTR	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	22802	CLCA4	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	4680	CEACAM6	ORPHA:586
HP:0002087	Abnormality of the upper respiratory tract	472	ATM	OMIM:208900
HP:0002087	Abnormality of the upper respiratory tract	1536	CYBB	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	4688	NCF2	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	1535	CYBA	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	4689	NCF4	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	653361	NCF1	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	79415	CYBC1	ORPHA:379
HP:0002087	Abnormality of the upper respiratory tract	1991	ELANE	ORPHA:2686
HP:0002087	Abnormality of the upper respiratory tract	134218	DNAJC21	ORPHA:811
HP:0002087	Abnormality of the upper respiratory tract	51119	SBDS	ORPHA:811
HP:0002087	Abnormality of the upper respiratory tract	6729	SRP54	ORPHA:811
HP:0002087	Abnormality of the upper respiratory tract	695	BTK	ORPHA:47
HP:0002087	Abnormality of the upper respiratory tract	695	BTK	OMIM:307200
HP:0002087	Abnormality of the upper respiratory tract	5994	RFXAP	ORPHA:572
HP:0002087	Abnormality of the upper respiratory tract	4261	CIITA	ORPHA:572
HP:0002087	Abnormality of the upper respiratory tract	5993	RFX5	ORPHA:572
HP:0002087	Abnormality of the upper respiratory tract	8625	RFXANK	ORPHA:572
HP:0002087	Abnormality of the upper respiratory tract	4256	MGP	OMIM:245150
HP:0002087	Abnormality of the upper respiratory tract	5692	PSMB4	OMIM:617591
HP:0002087	Abnormality of the upper respiratory tract	5698	PSMB9	OMIM:617591
HP:0002087	Abnormality of the upper respiratory tract	3394	IRF8	OMIM:226990
HP:0002087	Abnormality of the upper respiratory tract	7852	CXCR4	ORPHA:51636
HP:0002087	Abnormality of the upper respiratory tract	4763	NF1	ORPHA:363700
HP:0002087	Abnormality of the upper respiratory tract	51314	NME8	OMIM:610852
HP:0002087	Abnormality of the upper respiratory tract	352909	DNAAF3	OMIM:606763
HP:0002087	Abnormality of the upper respiratory tract	3321	IGSF3	OMIM:149700
HP:0002087	Abnormality of the upper respiratory tract	6929	TCF3	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	973	CD79A	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	974	CD79B	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	3543	IGLL1	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	3507	IGHM	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	29760	BLNK	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	5295	PIK3R1	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	56262	LRRC8A	ORPHA:33110
HP:0002087	Abnormality of the upper respiratory tract	8106	PABPN1	ORPHA:270
HP:0002087	Abnormality of the upper respiratory tract	80169	CTC1	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	26277	TINF2	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	55651	NHP2	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	79650	USB1	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	55135	WRAP53	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	51750	RTEL1	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	4869	NPM1	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	7012	TERC	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	55505	NOP10	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	5073	PARN	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	7015	TERT	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	1736	DKC1	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	7298	TYMS	ORPHA:1775
HP:0002087	Abnormality of the upper respiratory tract	100996717	NOTCH2NLC	ORPHA:2289
HP:0002087	Abnormality of the upper respiratory tract	54903	MKS1	OMIM:249000
HP:0002087	Abnormality of the upper respiratory tract	10743	RAI1	OMIM:182290
HP:0002087	Abnormality of the upper respiratory tract	4750	NEK1	OMIM:263520
HP:0002087	Abnormality of the upper respiratory tract	1717	DHCR7	ORPHA:818
HP:0002087	Abnormality of the upper respiratory tract	63982	ANO3	ORPHA:420485
HP:0002087	Abnormality of the upper respiratory tract	7473	WNT3	ORPHA:3301
HP:0002087	Abnormality of the upper respiratory tract	340419	RSPO2	ORPHA:3301
HP:0002087	Abnormality of the upper respiratory tract	9361	LONP1	ORPHA:1458
HP:0002087	Abnormality of the upper respiratory tract	6134	RPL10	OMIM:300998
HP:0002087	Abnormality of the upper respiratory tract	6134	RPL10	ORPHA:459070
HP:0002087	Abnormality of the upper respiratory tract	6134	RPL10	ORPHA:435938
HP:0002087	Abnormality of the upper respiratory tract	5447	POR	OMIM:201750
HP:0002087	Abnormality of the upper respiratory tract	8493	PPM1D	OMIM:617450
HP:0002087	Abnormality of the upper respiratory tract	104	ADARB1	OMIM:618862
HP:0002087	Abnormality of the upper respiratory tract	6477	SIAH1	OMIM:619314
HP:0002087	Abnormality of the upper respiratory tract	1387	CREBBP	OMIM:180849
HP:0002087	Abnormality of the upper respiratory tract	2033	EP300	OMIM:180849
HP:0002087	Abnormality of the upper respiratory tract	8425	LTBP4	OMIM:613177
HP:0002087	Abnormality of the upper respiratory tract	6659	SOX4	OMIM:618506
HP:0002087	Abnormality of the upper respiratory tract	9759	HDAC4	ORPHA:1001
HP:0002087	Abnormality of the upper respiratory tract	775	CACNA1C	OMIM:620029
HP:0002087	Abnormality of the upper respiratory tract	91461	PKDCC	OMIM:618821
HP:0002087	Abnormality of the upper respiratory tract	5894	RAF1	OMIM:611553
HP:0002087	Abnormality of the upper respiratory tract	4897	NRCAM	OMIM:619833
HP:0002087	Abnormality of the upper respiratory tract	7486	WRN	ORPHA:902
HP:0002087	Abnormality of the upper respiratory tract	10236	HNRNPR	OMIM:620073
HP:0002087	Abnormality of the upper respiratory tract	1303	COL12A1	ORPHA:536516
HP:0002087	Abnormality of the upper respiratory tract	6662	SOX9	ORPHA:140
HP:0002087	Abnormality of the upper respiratory tract	284058	KANSL1	ORPHA:363965
HP:0002087	Abnormality of the upper respiratory tract	284058	KANSL1	ORPHA:363958
HP:0002087	Abnormality of the upper respiratory tract	284058	KANSL1	OMIM:610443
HP:0002087	Abnormality of the upper respiratory tract	23498	HAAO	OMIM:617660
HP:0002087	Abnormality of the upper respiratory tract	374879	ZNF699	OMIM:619488
HP:0002087	Abnormality of the upper respiratory tract	91179	SCARF2	OMIM:600920
HP:0002087	Abnormality of the upper respiratory tract	6857	SYT1	ORPHA:522077
HP:0002087	Abnormality of the upper respiratory tract	3020	H3-3A	OMIM:619720
HP:0002087	Abnormality of the upper respiratory tract	253959	RALGAPA1	OMIM:618797
HP:0002087	Abnormality of the upper respiratory tract	3021	H3-3B	OMIM:619721
HP:0002087	Abnormality of the upper respiratory tract	388015	RTL1	ORPHA:254528
HP:0002087	Abnormality of the upper respiratory tract	388015	RTL1	ORPHA:96334
HP:0002087	Abnormality of the upper respiratory tract	8788	DLK1	ORPHA:254528
HP:0002087	Abnormality of the upper respiratory tract	8788	DLK1	ORPHA:96334
HP:0002087	Abnormality of the upper respiratory tract	55384	MEG3	ORPHA:254528
HP:0002087	Abnormality of the upper respiratory tract	55384	MEG3	ORPHA:96334
HP:0002087	Abnormality of the upper respiratory tract	80816	ASXL3	OMIM:615485
HP:0002087	Abnormality of the upper respiratory tract	51506	UFC1	OMIM:618076
HP:0002087	Abnormality of the upper respiratory tract	27245	AHDC1	ORPHA:412069
HP:0002087	Abnormality of the upper respiratory tract	27245	AHDC1	OMIM:615829
HP:0002087	Abnormality of the upper respiratory tract	1841	DTYMK	OMIM:619847
HP:0002087	Abnormality of the upper respiratory tract	55636	CHD7	ORPHA:138
HP:0002087	Abnormality of the upper respiratory tract	9723	SEMA3E	ORPHA:138
HP:0002087	Abnormality of the upper respiratory tract	11128	POLR3A	ORPHA:3455
HP:0002087	Abnormality of the upper respiratory tract	4038	LRP4	ORPHA:3258
HP:0002087	Abnormality of the upper respiratory tract	324	APC	ORPHA:3258
HP:0002087	Abnormality of the upper respiratory tract	3417	IDH1	ORPHA:99646
HP:0002087	Abnormality of the upper respiratory tract	23314	SATB2	ORPHA:576283
HP:0002087	Abnormality of the upper respiratory tract	4784	NFIX	OMIM:602535
HP:0002087	Abnormality of the upper respiratory tract	2263	FGFR2	ORPHA:93260
HP:0002087	Abnormality of the upper respiratory tract	2263	FGFR2	ORPHA:93259
HP:0002087	Abnormality of the upper respiratory tract	54496	PRMT7	OMIM:617157
HP:0002087	Abnormality of the upper respiratory tract	54496	PRMT7	ORPHA:464288
HP:0002087	Abnormality of the upper respiratory tract	23522	KAT6B	OMIM:606170
HP:0002087	Abnormality of the upper respiratory tract	5116	PCNT	ORPHA:2637
HP:0002087	Abnormality of the upper respiratory tract	7994	KAT6A	ORPHA:457193
HP:0002087	Abnormality of the upper respiratory tract	2581	GALC	ORPHA:206436
HP:0002087	Abnormality of the upper respiratory tract	5660	PSAP	ORPHA:206436
HP:0002087	Abnormality of the upper respiratory tract	1312	COMT	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	221037	JMJD1C	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	2812	GP1BB	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	6239	RREB1	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	6899	TBX1	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	7290	HIRA	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	9632	SEC24C	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	7353	UFD1	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	421	ARVCF	ORPHA:567
HP:0002087	Abnormality of the upper respiratory tract	3778	KCNMA1	OMIM:618729
HP:0002087	Abnormality of the upper respiratory tract	26123	TCTN3	ORPHA:2753
HP:0002087	Abnormality of the upper respiratory tract	3339	HSPG2	ORPHA:800
HP:0002087	Abnormality of the upper respiratory tract	157680	VPS13B	OMIM:216550
HP:0002087	Abnormality of the upper respiratory tract	3239	HOXD13	ORPHA:887
HP:0002087	Abnormality of the upper respiratory tract	1513	CTSK	ORPHA:763
HP:0002087	Abnormality of the upper respiratory tract	529	ATP6V1E1	OMIM:617402
HP:0002087	Abnormality of the upper respiratory tract	4212	MEIS2	ORPHA:261190
HP:0002087	Abnormality of the upper respiratory tract	219844	HYLS1	ORPHA:2189
HP:0002087	Abnormality of the upper respiratory tract	374654	KIF7	ORPHA:2189
HP:0002087	Abnormality of the upper respiratory tract	51053	GMNN	OMIM:616835
HP:0002087	Abnormality of the upper respiratory tract	3852	KRT5	ORPHA:79396
HP:0002087	Abnormality of the upper respiratory tract	3861	KRT14	ORPHA:79396
HP:0002087	Abnormality of the upper respiratory tract	4000	LMNA	ORPHA:79474
HP:0002087	Abnormality of the upper respiratory tract	23594	ORC6	OMIM:613803
HP:0002087	Abnormality of the upper respiratory tract	26040	SETBP1	ORPHA:798
HP:0002087	Abnormality of the upper respiratory tract	3909	LAMA3	ORPHA:79404
HP:0002087	Abnormality of the upper respiratory tract	3918	LAMC2	ORPHA:79404
HP:0002087	Abnormality of the upper respiratory tract	3914	LAMB3	ORPHA:79404
HP:0002087	Abnormality of the upper respiratory tract	1836	SLC26A2	ORPHA:56304
HP:0002087	Abnormality of the upper respiratory tract	3835	KIF22	ORPHA:93360
HP:0002087	Abnormality of the upper respiratory tract	55612	FERMT1	ORPHA:2908
HP:0002087	Abnormality of the upper respiratory tract	2317	FLNB	ORPHA:1190
HP:0002087	Abnormality of the upper respiratory tract	2317	FLNB	OMIM:108720
HP:0002087	Abnormality of the upper respiratory tract	65992	DDRGK1	ORPHA:93352
HP:0002087	Abnormality of the upper respiratory tract	389827	MYMK	ORPHA:1358
HP:0002087	Abnormality of the upper respiratory tract	101929726	MYMX	ORPHA:1358
HP:0002087	Abnormality of the upper respiratory tract	27125	AFF4	ORPHA:444077
HP:0002087	Abnormality of the upper respiratory tract	6926	TBX3	OMIM:181450
HP:0002087	Abnormality of the upper respiratory tract	341640	FREM2	ORPHA:2052
HP:0002087	Abnormality of the upper respiratory tract	80144	FRAS1	ORPHA:2052
HP:0002087	Abnormality of the upper respiratory tract	80144	FRAS1	OMIM:219000
HP:0002087	Abnormality of the upper respiratory tract	23426	GRIP1	ORPHA:2052
HP:0002087	Abnormality of the upper respiratory tract	10262	SF3B4	OMIM:154400
HP:0002087	Abnormality of the upper respiratory tract	1062	CENPE	OMIM:616051
HP:0002087	Abnormality of the upper respiratory tract	79631	EFL1	OMIM:617941
HP:0002087	Abnormality of the upper respiratory tract	6885	MAP3K7	OMIM:617137
HP:0002087	Abnormality of the upper respiratory tract	6885	MAP3K7	ORPHA:1826
HP:0002087	Abnormality of the upper respiratory tract	4087	SMAD2	OMIM:619657
HP:0002087	Abnormality of the upper respiratory tract	79753	SNIP1	OMIM:614501
HP:0002087	Abnormality of the upper respiratory tract	2316	FLNA	ORPHA:1826
HP:0002087	Abnormality of the upper respiratory tract	4796	TONSL	ORPHA:93357
HP:0002087	Abnormality of the upper respiratory tract	4796	TONSL	OMIM:271510
HP:0002087	Abnormality of the upper respiratory tract	51199	NIN	ORPHA:319675
HP:0002087	Abnormality of the upper respiratory tract	4054	LTBP3	OMIM:617809
HP:0002087	Abnormality of the upper respiratory tract	2697	GJA1	OMIM:218400
HP:0002087	Abnormality of the upper respiratory tract	6469	SHH	OMIM:147250
HP:0002087	Abnormality of the upper respiratory tract	4281	MID1	OMIM:300000
HP:0002087	Abnormality of the upper respiratory tract	57167	SALL4	OMIM:607323
HP:0002087	Abnormality of the upper respiratory tract	8626	TP63	OMIM:604292
HP:0002087	Abnormality of the upper respiratory tract	4853	NOTCH2	OMIM:102500
HP:0002087	Abnormality of the upper respiratory tract	4853	NOTCH2	ORPHA:955
HP:0002087	Abnormality of the upper respiratory tract	546	ATRX	OMIM:301040
HP:0002087	Abnormality of the upper respiratory tract	4591	TRIM37	OMIM:253250
HP:0002087	Abnormality of the upper respiratory tract	257	ALX3	OMIM:136760
HP:0002087	Abnormality of the upper respiratory tract	257	ALX3	ORPHA:391474
HP:0002087	Abnormality of the upper respiratory tract	175	AGA	OMIM:208400
HP:0002087	Abnormality of the upper respiratory tract	1301	COL11A1	ORPHA:560
HP:0002087	Abnormality of the upper respiratory tract	860	RUNX2	OMIM:119600
HP:0002087	Abnormality of the upper respiratory tract	6424	SFRP4	OMIM:265900
HP:0002087	Abnormality of the upper respiratory tract	83483	PLVAP	OMIM:618183
HP:0002087	Abnormality of the upper respiratory tract	6448	SGSH	OMIM:252900
HP:0002087	Abnormality of the upper respiratory tract	23394	ADNP	ORPHA:404448
HP:0002087	Abnormality of the upper respiratory tract	3932	LCK	OMIM:615758
HP:0002087	Abnormality of the upper respiratory tract	9094	UNC119	OMIM:615518
HP:0002087	Abnormality of the upper respiratory tract	411	ARSB	OMIM:253200
HP:0002087	Abnormality of the upper respiratory tract	114803	MYSM1	ORPHA:508542
HP:0002087	Abnormality of the upper respiratory tract	3718	JAK3	OMIM:600802
HP:0002087	Abnormality of the upper respiratory tract	6809	STX3	OMIM:619446
HP:0002087	Abnormality of the upper respiratory tract	11151	CORO1A	OMIM:615401
HP:0002087	Abnormality of the upper respiratory tract	6813	STXBP2	OMIM:613101
HP:0002087	Abnormality of the upper respiratory tract	57465	TBC1D24	ORPHA:352596
HP:0002087	Abnormality of the upper respiratory tract	10525	HYOU1	OMIM:233600
HP:0002087	Abnormality of the upper respiratory tract	3952	LEP	ORPHA:66628
HP:0002087	Abnormality of the upper respiratory tract	3952	LEP	OMIM:614962
HP:0002087	Abnormality of the upper respiratory tract	25839	COG4	ORPHA:263501
HP:0002087	Abnormality of the upper respiratory tract	6597	SMARCA4	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	6598	SMARCB1	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	8289	ARID1A	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	5977	DPF2	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	6601	SMARCC2	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	6602	SMARCD1	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	57492	ARID1B	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	196528	ARID2	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	6605	SMARCE1	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	6664	SOX11	ORPHA:1465
HP:0002087	Abnormality of the upper respiratory tract	92579	G6PC3	OMIM:612541
HP:0002087	Abnormality of the upper respiratory tract	5631	PRPS1	ORPHA:1187
HP:0002087	Abnormality of the upper respiratory tract	5631	PRPS1	OMIM:301835
HP:0002087	Abnormality of the upper respiratory tract	5426	POLE	OMIM:615139
HP:0002087	Abnormality of the upper respiratory tract	3953	LEPR	OMIM:614963
HP:0002087	Abnormality of the upper respiratory tract	3953	LEPR	ORPHA:179494
HP:0002087	Abnormality of the upper respiratory tract	8456	FOXN1	OMIM:618806
HP:0002087	Abnormality of the upper respiratory tract	146206	CARMIL2	OMIM:618131
HP:0002087	Abnormality of the upper respiratory tract	2720	GLB1	OMIM:253010
HP:0002087	Abnormality of the upper respiratory tract	7840	ALMS1	ORPHA:64
HP:0002087	Abnormality of the upper respiratory tract	6772	STAT1	ORPHA:391487
HP:0002087	Abnormality of the upper respiratory tract	10043	TOM1	ORPHA:391487
HP:0002087	Abnormality of the upper respiratory tract	3572	IL6ST	OMIM:619752
HP:0002087	Abnormality of the upper respiratory tract	2588	GALNS	OMIM:253000
HP:0002087	Abnormality of the upper respiratory tract	6774	STAT3	OMIM:615952
HP:0002087	Abnormality of the upper respiratory tract	9841	ZBTB24	OMIM:614069
HP:0002087	Abnormality of the upper respiratory tract	920	CD4	OMIM:619238
HP:0002087	Abnormality of the upper respiratory tract	3570	IL6R	OMIM:618944
HP:0002087	Abnormality of the upper respiratory tract	54440	SASH3	OMIM:301082
HP:0002087	Abnormality of the upper respiratory tract	3575	IL7R	ORPHA:169154
HP:0002087	Abnormality of the upper respiratory tract	51360	MBTPS2	OMIM:308205
HP:0002087	Abnormality of the upper respiratory tract	27086	FOXP1	ORPHA:391372
HP:0002087	Abnormality of the upper respiratory tract	8481	OFD1	OMIM:300209
HP:0002087	Abnormality of the upper respiratory tract	5971	RELB	OMIM:617585
HP:0002087	Abnormality of the upper respiratory tract	79803	HPS6	OMIM:614075
HP:0002087	Abnormality of the upper respiratory tract	641	BLM	OMIM:210900
HP:0002087	Abnormality of the upper respiratory tract	2799	GNS	OMIM:252940
HP:0002087	Abnormality of the upper respiratory tract	8242	KDM5C	OMIM:300534
HP:0002087	Abnormality of the upper respiratory tract	23247	KATNIP	OMIM:616784
HP:0002087	Abnormality of the upper respiratory tract	2990	GUSB	OMIM:253220
HP:0002087	Abnormality of the upper respiratory tract	138050	HGSNAT	OMIM:252930
HP:0002087	Abnormality of the upper respiratory tract	3514	IGKC	ORPHA:183675
HP:0002087	Abnormality of the upper respiratory tract	3501	IGHG2	ORPHA:183675
HP:0002087	Abnormality of the upper respiratory tract	64421	DCLRE1C	OMIM:602450
HP:0002087	Abnormality of the upper respiratory tract	2542	SLC37A4	OMIM:232240
HP:0002087	Abnormality of the upper respiratory tract	55023	PHIP	ORPHA:589905
HP:0002087	Abnormality of the upper respiratory tract	2302	FOXJ1	OMIM:618699
HP:0002087	Abnormality of the upper respiratory tract	7388	UQCRH	OMIM:620137
HP:0002087	Abnormality of the upper respiratory tract	9138	ARHGEF1	OMIM:618459
HP:0002087	Abnormality of the upper respiratory tract	5696	PSMB8	OMIM:256040
HP:0002087	Abnormality of the upper respiratory tract	4669	NAGLU	OMIM:252920
HP:0002087	Abnormality of the upper respiratory tract	54808	DYM	ORPHA:239
HP:0002087	Abnormality of the upper respiratory tract	27019	DNAI1	OMIM:244400
HP:0002087	Abnormality of the upper respiratory tract	374407	DNAJB13	OMIM:617091
HP:0002087	Abnormality of the upper respiratory tract	6595	SMARCA2	OMIM:619293
HP:0002087	Abnormality of the upper respiratory tract	84061	MAGT1	OMIM:300853
HP:0002087	Abnormality of the upper respiratory tract	6103	RPGR	OMIM:300455
HP:0002087	Abnormality of the upper respiratory tract	123872	DNAAF1	OMIM:613193
HP:0002087	Abnormality of the upper respiratory tract	2622	GAS8	OMIM:616726
HP:0002087	Abnormality of the upper respiratory tract	23765	IL17RA	OMIM:613953
HP:0002087	Abnormality of the upper respiratory tract	3588	IL10RB	OMIM:612567
HP:0002087	Abnormality of the upper respiratory tract	6890	TAP1	OMIM:604571
HP:0002087	Abnormality of the upper respiratory tract	6891	TAP2	OMIM:604571
HP:0002087	Abnormality of the upper respiratory tract	6892	TAPBP	OMIM:604571
HP:0002087	Abnormality of the upper respiratory tract	6901	TAFAZZIN	OMIM:302060
HP:0002087	Abnormality of the upper respiratory tract	79158	GNPTAB	OMIM:252500
HP:0002087	Abnormality of the upper respiratory tract	2137	EXTL3	ORPHA:508533
HP:0002087	Abnormality of the upper respiratory tract	4089	SMAD4	OMIM:139210
HP:0002087	Abnormality of the upper respiratory tract	2261	FGFR3	ORPHA:2363
HP:0002087	Abnormality of the upper respiratory tract	2255	FGF10	ORPHA:2363
HP:0002087	Abnormality of the upper respiratory tract	10736	SIX2	ORPHA:488437
HP:0002087	Abnormality of the upper respiratory tract	2517	FUCA1	OMIM:230000
HP:0002087	Abnormality of the upper respiratory tract	5573	PRKAR1A	ORPHA:280651
HP:0002087	Abnormality of the upper respiratory tract	5144	PDE4D	ORPHA:280651
HP:0002087	Abnormality of the upper respiratory tract	3759	KCNJ2	OMIM:170390
HP:0002087	Abnormality of the upper respiratory tract	9526	MPDU1	ORPHA:79323
HP:0002087	Abnormality of the upper respiratory tract	4519	MT-CYB	ORPHA:137675
HP:0002087	Abnormality of the upper respiratory tract	2972	BRF1	OMIM:616202
HP:0002087	Abnormality of the upper respiratory tract	2972	BRF1	ORPHA:444072
HP:0002087	Abnormality of the upper respiratory tract	5354	PLP1	ORPHA:280210
HP:0002087	Abnormality of the upper respiratory tract	686	BTD	ORPHA:79241
HP:0002087	Abnormality of the upper respiratory tract	89910	UBE3B	OMIM:244450
HP:0002087	Abnormality of the upper respiratory tract	6872	TAF1	ORPHA:53351
HP:0002087	Abnormality of the upper respiratory tract	23495	TNFRSF13B	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	4790	NFKB1	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	115650	TNFRSF13C	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	8742	TNFSF12	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	5580	PRKCD	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	930	CD19	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	29851	ICOS	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	931	MS4A1	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	975	CD81	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	359948	IRF2BP2	ORPHA:1572
HP:0002087	Abnormality of the upper respiratory tract	139285	AMER1	OMIM:300373
HP:0002087	Abnormality of the upper respiratory tract	23347	SMCHD1	OMIM:603457
HP:0002087	Abnormality of the upper respiratory tract	3845	KRAS	ORPHA:3339
HP:0002087	Abnormality of the upper respiratory tract	22858	CILK1	OMIM:612651
HP:0002087	Abnormality of the upper respiratory tract	27152	INTU	OMIM:617925
HP:0002087	Abnormality of the upper respiratory tract	5396	PRRX1	OMIM:202650
HP:0002087	Abnormality of the upper respiratory tract	2187	FANCB	OMIM:314390
HP:0002087	Abnormality of the upper respiratory tract	7547	ZIC3	OMIM:314390
HP:0002087	Abnormality of the upper respiratory tract	6650	CAPN15	OMIM:619318
HP:0002087	Abnormality of the upper respiratory tract	1906	EDN1	OMIM:615706
HP:0002087	Abnormality of the upper respiratory tract	55294	FBXW7	OMIM:620012
HP:0002087	Abnormality of the upper respiratory tract	6711	SPTBN1	OMIM:619475
HP:0002087	Abnormality of the upper respiratory tract	26005	C2CD3	OMIM:615948
HP:0002087	Abnormality of the upper respiratory tract	26005	C2CD3	ORPHA:434179
HP:0002087	Abnormality of the upper respiratory tract	51626	DYNC2LI1	OMIM:617088
HP:0002087	Abnormality of the upper respiratory tract	9775	EIF4A3	OMIM:268305
HP:0002087	Abnormality of the upper respiratory tract	3930	LBR	OMIM:215140
HP:0002087	Abnormality of the upper respiratory tract	415	ARSL	ORPHA:79345
HP:0002087	Abnormality of the upper respiratory tract	5745	PTH1R	OMIM:215045
HP:0002087	Abnormality of the upper respiratory tract	29967	LRP12	OMIM:164310
HP:0002087	Abnormality of the upper respiratory tract	8092	ALX1	ORPHA:306542
HP:0002087	Abnormality of the upper respiratory tract	6949	TCOF1	OMIM:154500
HP:0002087	Abnormality of the upper respiratory tract	2737	GLI3	ORPHA:672
HP:0002087	Abnormality of the upper respiratory tract	2737	GLI3	OMIM:146510
HP:0002087	Abnormality of the upper respiratory tract	55112	DYNC2I1	ORPHA:93271
HP:0002087	Abnormality of the upper respiratory tract	57560	IFT80	ORPHA:93271
HP:0002087	Abnormality of the upper respiratory tract	57539	WDR35	ORPHA:93271
HP:0002087	Abnormality of the upper respiratory tract	79659	DYNC2H1	ORPHA:93271
HP:0002087	Abnormality of the upper respiratory tract	89891	DYNC2I2	ORPHA:93271
HP:0002087	Abnormality of the upper respiratory tract	2304	FOXE1	OMIM:241850
HP:0002087	Abnormality of the upper respiratory tract	30011	SH3KBP1	OMIM:300310
HP:0002087	Abnormality of the upper respiratory tract	5880	RAC2	OMIM:618986
HP:0002087	Abnormality of the upper respiratory tract	987	LRBA	OMIM:614700
HP:0002087	Abnormality of the upper respiratory tract	3426	CFI	OMIM:610984
HP:0002087	Abnormality of the upper respiratory tract	54499	TMCO1	OMIM:213980
HP:0002087	Abnormality of the upper respiratory tract	5293	PIK3CD	OMIM:619281
HP:0002087	Abnormality of the upper respiratory tract	1289	COL5A1	OMIM:130000
HP:0002087	Abnormality of the upper respiratory tract	51816	ADA2	OMIM:615688
HP:0002087	Abnormality of the upper respiratory tract	50615	IL21R	OMIM:615207
HP:0002087	Abnormality of the upper respiratory tract	85452	CFAP74	OMIM:620197
HP:0002087	Abnormality of the upper respiratory tract	8382	NME5	OMIM:620032
HP:0002087	Abnormality of the upper respiratory tract	84905	ZNF341	OMIM:618282
HP:0002087	Abnormality of the upper respiratory tract	54	ACP5	OMIM:607944
HP:0002087	Abnormality of the upper respiratory tract	1290	COL5A2	OMIM:130010
HP:0002087	Abnormality of the upper respiratory tract	10625	IVNS1ABP	OMIM:618969
HP:0002087	Abnormality of the upper respiratory tract	4194	MDM4	OMIM:618849
HP:0002087	Abnormality of the upper respiratory tract	3551	IKBKB	OMIM:618204
HP:0002087	Abnormality of the upper respiratory tract	81704	DOCK8	OMIM:243700
HP:0002087	Abnormality of the upper respiratory tract	81704	DOCK8	ORPHA:217390
HP:0002087	Abnormality of the upper respiratory tract	721	C4B	OMIM:614379
HP:0002087	Abnormality of the upper respiratory tract	6688	SPI1	OMIM:619707
HP:0002087	Abnormality of the upper respiratory tract	2214	FCGR3A	OMIM:615707
HP:0002087	Abnormality of the upper respiratory tract	85016	CFAP300	OMIM:618063
HP:0002087	Abnormality of the upper respiratory tract	85016	CFAP300	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	2212	FCGR2A	OMIM:219700
HP:0002087	Abnormality of the upper respiratory tract	83538	ODAD4	OMIM:617092
HP:0002087	Abnormality of the upper respiratory tract	83538	ODAD4	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	92749	DRC1	OMIM:615294
HP:0002087	Abnormality of the upper respiratory tract	92749	DRC1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	1770	DNAH9	OMIM:618300
HP:0002087	Abnormality of the upper respiratory tract	1770	DNAH9	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	83861	RSPH3	OMIM:616481
HP:0002087	Abnormality of the upper respiratory tract	83861	RSPH3	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	79848	CSPP1	OMIM:615636
HP:0002087	Abnormality of the upper respiratory tract	5238	PGM3	ORPHA:443811
HP:0002087	Abnormality of the upper respiratory tract	64446	DNAI2	OMIM:612444
HP:0002087	Abnormality of the upper respiratory tract	64446	DNAI2	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	3981	LIG4	OMIM:606593
HP:0002087	Abnormality of the upper respiratory tract	25981	DNAH1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	115948	ODAD3	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	115948	ODAD3	OMIM:616037
HP:0002087	Abnormality of the upper respiratory tract	54768	HYDIN	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	27148	STK36	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	54970	TTC12	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	152110	NEK10	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	221421	RSPH9	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	221421	RSPH9	OMIM:612650
HP:0002087	Abnormality of the upper respiratory tract	85478	CCDC65	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	85478	CCDC65	OMIM:615504
HP:0002087	Abnormality of the upper respiratory tract	55036	CCDC40	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	55036	CCDC40	OMIM:613808
HP:0002087	Abnormality of the upper respiratory tract	51364	ZMYND10	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	6674	SPAG1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	83544	DNAL1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	83544	DNAL1	OMIM:614017
HP:0002087	Abnormality of the upper respiratory tract	89765	RSPH1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	200373	CFAP221	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	55172	DNAAF2	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	55172	DNAAF2	OMIM:612518
HP:0002087	Abnormality of the upper respiratory tract	161582	DNAAF4	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	23639	DNAAF11	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	345895	RSPH4A	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	54919	DNAAF5	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	388389	CCDC103	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	388389	CCDC103	OMIM:614679
HP:0002087	Abnormality of the upper respiratory tract	93233	ODAD1	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	55130	ODAD2	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	1767	DNAH5	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	345643	MCIDAS	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	56683	CFAP298	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	79925	SPEF2	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	10309	CCNO	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	115399	LRRC56	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	139212	DNAAF6	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	339829	CCDC39	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	339829	CCDC39	OMIM:613807
HP:0002087	Abnormality of the upper respiratory tract	8701	DNAH11	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	246176	GAS2L2	ORPHA:244
HP:0002087	Abnormality of the upper respiratory tract	146845	CFAP52	OMIM:619607
HP:0002087	Abnormality of the upper respiratory tract	25790	CFAP45	OMIM:619608
HP:0002087	Abnormality of the upper respiratory tract	165918	RNF168	ORPHA:420741
HP:0002087	Abnormality of the upper respiratory tract	7512	XPNPEP2	ORPHA:100057
HP:0002087	Abnormality of the upper respiratory tract	710	SERPING1	ORPHA:100050
HP:0002087	Abnormality of the upper respiratory tract	710	SERPING1	OMIM:106100
HP:0002087	Abnormality of the upper respiratory tract	2161	F12	OMIM:610618
HP:0002087	Abnormality of the upper respiratory tract	5340	PLG	OMIM:619360
HP:0002087	Abnormality of the upper respiratory tract	64711	HS3ST6	OMIM:619367
HP:0002087	Abnormality of the upper respiratory tract	2050	EPHB4	ORPHA:90186
HP:0002087	Abnormality of the upper respiratory tract	4292	MLH1	OMIM:158320
HP:0002087	Abnormality of the upper respiratory tract	4292	MLH1	ORPHA:587
HP:0002087	Abnormality of the upper respiratory tract	4436	MSH2	OMIM:158320
HP:0002087	Abnormality of the upper respiratory tract	4436	MSH2	ORPHA:587
HP:0002087	Abnormality of the upper respiratory tract	2956	MSH6	ORPHA:587
HP:0002087	Abnormality of the upper respiratory tract	284654	RSPO1	OMIM:610644
HP:0002087	Abnormality of the upper respiratory tract	6794	STK11	ORPHA:2869
HP:0002087	Abnormality of the upper respiratory tract	427	ASAH1	ORPHA:333
HP:0002087	Abnormality of the upper respiratory tract	846	CASR	OMIM:601198
HP:0002087	Abnormality of the upper respiratory tract	6329	SCN4A	OMIM:608390
HP:0002087	Abnormality of the upper respiratory tract	6329	SCN4A	ORPHA:99734
HP:0002087	Abnormality of the upper respiratory tract	7259	TSPYL1	OMIM:608800
HP:0002087	Abnormality of the upper respiratory tract	25978	CHMP2B	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	3178	HNRNPA1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	8148	TAF15	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	5445	PON2	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	9217	VAPB	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	8878	SQSTM1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	5630	PRPH	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	29110	TBK1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	55830	GLT8D1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	755	CFAP410	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	10891	PPARGC1A	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	6647	SOD1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	10133	OPTN	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	1639	DCTN1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	9896	FIG4	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	5444	PON1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	5446	PON3	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	4744	NEFH	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	5216	PFN1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	54209	TREM2	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	7415	VCP	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	283	ANG	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	23435	TARDBP	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	29978	UBQLN2	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	2733	GLE1	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	2521	FUS	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	2043	EPHA4	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	6311	ATXN2	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	1610	DAO	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	2066	ERBB4	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	311	ANXA11	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	23025	UNC13A	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	899	CCNF	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	400916	CHCHD10	ORPHA:803
HP:0002087	Abnormality of the upper respiratory tract	27286	SRPX2	ORPHA:1945
HP:0002087	Abnormality of the upper respiratory tract	2903	GRIN2A	ORPHA:1945
HP:0002087	Abnormality of the upper respiratory tract	2566	GABRG2	ORPHA:1945
HP:0002087	Abnormality of the upper respiratory tract	10312	TCIRG1	ORPHA:486
HP:0002087	Abnormality of the upper respiratory tract	2672	GFI1	ORPHA:486
HP:0002087	Abnormality of the upper respiratory tract	81570	CLPB	ORPHA:486
HP:0002087	Abnormality of the upper respiratory tract	50940	PDE11A	ORPHA:1359
HP:0002087	Abnormality of the upper respiratory tract	22861	NLRP1	OMIM:618803
HP:0002087	Abnormality of the upper respiratory tract	22861	NLRP1	OMIM:617388
HP:0002087	Abnormality of the upper respiratory tract	64840	PORCN	OMIM:305600
HP:0002087	Abnormality of the upper respiratory tract	91662	NLRP12	OMIM:611762
HP:0002087	Abnormality of the upper respiratory tract	1380	CR2	OMIM:614699
HP:0002087	Abnormality of the upper respiratory tract	64135	IFIH1	OMIM:619773
HP:0002087	Abnormality of the upper respiratory tract	89970	RSPRY1	ORPHA:457395
HP:0002087	Abnormality of the upper respiratory tract	3423	IDS	ORPHA:217085
HP:0002087	Abnormality of the upper respiratory tract	3423	IDS	ORPHA:217093
HP:0002087	Abnormality of the upper respiratory tract	51341	ZBTB7A	OMIM:619769
HP:0002087	Abnormality of the upper respiratory tract	23149	FCHO1	OMIM:619164
HP:0002087	Abnormality of the upper respiratory tract	1956	EGFR	OMIM:616069
HP:0002087	Abnormality of the upper respiratory tract	847	CAT	ORPHA:926
HP:0002087	Abnormality of the upper respiratory tract	7157	TP53	ORPHA:524
HP:0002087	Abnormality of the upper respiratory tract	1029	CDKN2A	ORPHA:524
HP:0002087	Abnormality of the upper respiratory tract	4193	MDM2	ORPHA:524
HP:0002087	Abnormality of the upper respiratory tract	11200	CHEK2	ORPHA:524
HP:0002087	Abnormality of the upper respiratory tract	4486	MST1R	OMIM:617075
HP:0002087	Abnormality of the upper respiratory tract	26191	PTPN22	ORPHA:397
HP:0002087	Abnormality of the upper respiratory tract	3106	HLA-B	ORPHA:397
HP:0002087	Abnormality of the upper respiratory tract	3123	HLA-DRB1	ORPHA:397
HP:0002087	Abnormality of the upper respiratory tract	8974	P4HA2	ORPHA:397
HP:0002087	Abnormality of the upper respiratory tract	4791	NFKB2	ORPHA:293978
HP:0002087	Abnormality of the upper respiratory tract	55315	SLC29A3	ORPHA:168569
HP:0002087	Abnormality of the upper respiratory tract	7132	TNFRSF1A	ORPHA:32960
HP:0002087	Abnormality of the upper respiratory tract	331	XIAP	OMIM:308240
HP:0002087	Abnormality of the upper respiratory tract	4068	SH2D1A	OMIM:308240
HP:0002087	Abnormality of the upper respiratory tract	79087	ALG12	ORPHA:79324
HP:0002087	Abnormality of the upper respiratory tract	5896	RAG1	ORPHA:331206
HP:0002087	Abnormality of the upper respiratory tract	5897	RAG2	ORPHA:331206
HP:0002087	Abnormality of the upper respiratory tract	4247	MGAT2	ORPHA:79329
HP:0002087	Abnormality of the upper respiratory tract	8239	USP9X	ORPHA:480880
HP:0002087	Abnormality of the upper respiratory tract	57379	AICDA	OMIM:605258
HP:0002087	Abnormality of the upper respiratory tract	7374	UNG	OMIM:608106
HP:0002087	Abnormality of the upper respiratory tract	6340	SCNN1G	ORPHA:171876
HP:0002087	Abnormality of the upper respiratory tract	6337	SCNN1A	ORPHA:171876
HP:0002087	Abnormality of the upper respiratory tract	6338	SCNN1B	ORPHA:171876
HP:0002087	Abnormality of the upper respiratory tract	29969	MDFIC	OMIM:620014
HP:0002087	Abnormality of the upper respiratory tract	7535	ZAP70	ORPHA:911
HP:0002087	Abnormality of the upper respiratory tract	9782	MATR3	ORPHA:600
HP:0002087	Abnormality of the upper respiratory tract	10755	GIPC1	ORPHA:98897
HP:0002087	Abnormality of the upper respiratory tract	4125	MAN2B1	ORPHA:309282
HP:0002087	Abnormality of the upper respiratory tract	22827	PUF60	ORPHA:508488
HP:0002088	Abnormal lung morphology	1593	CYP27A1	ORPHA:909
HP:0002088	Abnormal lung morphology	10682	EBP	ORPHA:35173
HP:0002088	Abnormal lung morphology	4763	NF1	ORPHA:97685
HP:0002088	Abnormal lung morphology	28981	IFT81	OMIM:617895
HP:0002088	Abnormal lung morphology	4750	NEK1	OMIM:263520
HP:0002088	Abnormal lung morphology	2733	GLE1	ORPHA:1486
HP:0002088	Abnormal lung morphology	2733	GLE1	OMIM:253310
HP:0002088	Abnormal lung morphology	5396	PRRX1	OMIM:202650
HP:0002088	Abnormal lung morphology	8195	MKKS	OMIM:236700
HP:0002088	Abnormal lung morphology	10992	SF3B2	OMIM:164210
HP:0002088	Abnormal lung morphology	81839	VANGL1	ORPHA:3027
HP:0002088	Abnormal lung morphology	80199	FUZ	ORPHA:3027
HP:0002088	Abnormal lung morphology	183	AGT	OMIM:267430
HP:0002088	Abnormal lung morphology	5972	REN	OMIM:267430
HP:0002088	Abnormal lung morphology	185	AGTR1	OMIM:267430
HP:0002088	Abnormal lung morphology	1636	ACE	OMIM:267430
HP:0002088	Abnormal lung morphology	57539	WDR35	ORPHA:93271
HP:0002088	Abnormal lung morphology	57539	WDR35	OMIM:614091
HP:0002088	Abnormal lung morphology	91754	NEK9	OMIM:617022
HP:0002088	Abnormal lung morphology	4703	NEB	ORPHA:171430
HP:0002088	Abnormal lung morphology	131377	KLHL40	ORPHA:171430
HP:0002088	Abnormal lung morphology	10324	KLHL41	ORPHA:171430
HP:0002088	Abnormal lung morphology	56203	LMOD3	ORPHA:171430
HP:0002088	Abnormal lung morphology	10229	COQ7	OMIM:616733
HP:0002088	Abnormal lung morphology	55784	MCTP2	ORPHA:1596
HP:0002088	Abnormal lung morphology	5915	RARB	OMIM:615524
HP:0002088	Abnormal lung morphology	5915	RARB	ORPHA:2470
HP:0002088	Abnormal lung morphology	5189	PEX1	OMIM:214100
HP:0002088	Abnormal lung morphology	56975	FAM20C	OMIM:259775
HP:0002088	Abnormal lung morphology	1146	CHRNG	OMIM:265000
HP:0002088	Abnormal lung morphology	1146	CHRNG	ORPHA:2990
HP:0002088	Abnormal lung morphology	1146	CHRNG	OMIM:253290
HP:0002088	Abnormal lung morphology	51132	RLIM	OMIM:300978
HP:0002088	Abnormal lung morphology	50814	NSDHL	OMIM:308050
HP:0002088	Abnormal lung morphology	51008	ASCC1	OMIM:616867
HP:0002088	Abnormal lung morphology	57211	ADGRG6	OMIM:616503
HP:0002088	Abnormal lung morphology	3339	HSPG2	ORPHA:1865
HP:0002088	Abnormal lung morphology	3339	HSPG2	OMIM:224410
HP:0002088	Abnormal lung morphology	23414	ZFPM2	ORPHA:2140
HP:0002088	Abnormal lung morphology	5745	PTH1R	ORPHA:50945
HP:0002088	Abnormal lung morphology	23384	SPECC1L	OMIM:145420
HP:0002088	Abnormal lung morphology	27130	INVS	OMIM:602088
HP:0002088	Abnormal lung morphology	26040	SETBP1	ORPHA:798
HP:0002088	Abnormal lung morphology	29980	DONSON	OMIM:251230
HP:0002088	Abnormal lung morphology	26227	PHGDH	OMIM:256520
HP:0002088	Abnormal lung morphology	4927	NUP88	ORPHA:994
HP:0002088	Abnormal lung morphology	7846	TUBA1A	ORPHA:994
HP:0002088	Abnormal lung morphology	4593	MUSK	ORPHA:994
HP:0002088	Abnormal lung morphology	4593	MUSK	OMIM:208150
HP:0002088	Abnormal lung morphology	285489	DOK7	ORPHA:994
HP:0002088	Abnormal lung morphology	1798	DPAGT1	ORPHA:86309
HP:0002088	Abnormal lung morphology	1280	COL2A1	OMIM:151210
HP:0002088	Abnormal lung morphology	1280	COL2A1	ORPHA:85166
HP:0002088	Abnormal lung morphology	1280	COL2A1	ORPHA:93296
HP:0002088	Abnormal lung morphology	6608	SMO	OMIM:241800
HP:0002088	Abnormal lung morphology	5979	RET	ORPHA:1848
HP:0002088	Abnormal lung morphology	8516	ITGA8	ORPHA:1848
HP:0002088	Abnormal lung morphology	8516	ITGA8	OMIM:191830
HP:0002088	Abnormal lung morphology	26281	FGF20	ORPHA:1848
HP:0002088	Abnormal lung morphology	26281	FGF20	OMIM:615721
HP:0002088	Abnormal lung morphology	2674	GFRA1	ORPHA:1848
HP:0002088	Abnormal lung morphology	2674	GFRA1	OMIM:619887
HP:0002088	Abnormal lung morphology	7484	WNT9B	ORPHA:1848
HP:0002088	Abnormal lung morphology	80000	GREB1L	ORPHA:1848
HP:0002088	Abnormal lung morphology	55165	CEP55	OMIM:236500
HP:0002088	Abnormal lung morphology	4716	NDUFB10	OMIM:619003
HP:0002088	Abnormal lung morphology	8318	CDC45	OMIM:617063
HP:0002088	Abnormal lung morphology	27031	NPHP3	OMIM:208540
HP:0002088	Abnormal lung morphology	27031	NPHP3	ORPHA:3032
HP:0002088	Abnormal lung morphology	163175	LGI4	OMIM:617468
HP:0002088	Abnormal lung morphology	8241	RBM10	ORPHA:2886
HP:0002088	Abnormal lung morphology	63895	PIEZO2	OMIM:248700
HP:0002088	Abnormal lung morphology	342035	GLDN	OMIM:617194
HP:0002088	Abnormal lung morphology	10269	ZMPSTE24	ORPHA:1662
HP:0002088	Abnormal lung morphology	10269	ZMPSTE24	OMIM:275210
HP:0002088	Abnormal lung morphology	10195	ALG3	ORPHA:79321
HP:0002088	Abnormal lung morphology	57505	AARS2	OMIM:614096
HP:0002088	Abnormal lung morphology	54903	MKS1	OMIM:249000
HP:0002088	Abnormal lung morphology	1496	CTNNA2	OMIM:618174
HP:0002088	Abnormal lung morphology	27152	INTU	OMIM:617925
HP:0002088	Abnormal lung morphology	1144	CHRND	OMIM:253290
HP:0002088	Abnormal lung morphology	1134	CHRNA1	OMIM:253290
HP:0002088	Abnormal lung morphology	498	ATP5F1A	OMIM:615228
HP:0002088	Abnormal lung morphology	2108	ETFA	OMIM:231680
HP:0002088	Abnormal lung morphology	2109	ETFB	OMIM:231680
HP:0002088	Abnormal lung morphology	2110	ETFDH	OMIM:231680
HP:0002088	Abnormal lung morphology	168667	BMPER	OMIM:608022
HP:0002088	Abnormal lung morphology	3561	IL2RG	ORPHA:276
HP:0002088	Abnormal lung morphology	3561	IL2RG	OMIM:312863
HP:0002088	Abnormal lung morphology	3561	IL2RG	OMIM:300400
HP:0002088	Abnormal lung morphology	3561	IL2RG	ORPHA:39041
HP:0002088	Abnormal lung morphology	6720	SREBF1	OMIM:158310
HP:0002088	Abnormal lung morphology	4125	MAN2B1	ORPHA:309282
HP:0002088	Abnormal lung morphology	4125	MAN2B1	ORPHA:309288
HP:0002088	Abnormal lung morphology	134218	DNAJC21	ORPHA:811
HP:0002088	Abnormal lung morphology	79631	EFL1	ORPHA:811
HP:0002088	Abnormal lung morphology	51119	SBDS	ORPHA:811
HP:0002088	Abnormal lung morphology	2188	FANCF	OMIM:603467
HP:0002088	Abnormal lung morphology	919	CD247	ORPHA:169160
HP:0002088	Abnormal lung morphology	6445	SGCG	OMIM:253700
HP:0002088	Abnormal lung morphology	57057	TBX20	ORPHA:99103
HP:0002088	Abnormal lung morphology	4624	MYH6	ORPHA:99103
HP:0002088	Abnormal lung morphology	70	ACTC1	ORPHA:99103
HP:0002088	Abnormal lung morphology	28962	OSTM1	ORPHA:85179
HP:0002088	Abnormal lung morphology	6023	RMRP	ORPHA:39041
HP:0002088	Abnormal lung morphology	374879	ZNF699	OMIM:619488
HP:0002088	Abnormal lung morphology	629	CFB	OMIM:615561
HP:0002088	Abnormal lung morphology	2215	FCGR3B	ORPHA:464370
HP:0002088	Abnormal lung morphology	5966	REL	OMIM:619652
HP:0002088	Abnormal lung morphology	25836	NIPBL	OMIM:122470
HP:0002088	Abnormal lung morphology	3594	IL12RB1	ORPHA:319552
HP:0002088	Abnormal lung morphology	5903	RANBP2	OMIM:608033
HP:0002088	Abnormal lung morphology	37	ACADVL	ORPHA:26793
HP:0002088	Abnormal lung morphology	4054	LTBP3	OMIM:617809
HP:0002088	Abnormal lung morphology	399	RHOH	OMIM:618307
HP:0002088	Abnormal lung morphology	10056	FARSB	OMIM:613658
HP:0002088	Abnormal lung morphology	6651	SON	ORPHA:500150
HP:0002088	Abnormal lung morphology	4998	ORC1	OMIM:224690
HP:0002088	Abnormal lung morphology	2717	GLA	ORPHA:324
HP:0002088	Abnormal lung morphology	81620	CDT1	OMIM:613804
HP:0002088	Abnormal lung morphology	3476	IGBP1	OMIM:300472
HP:0002088	Abnormal lung morphology	79848	CSPP1	ORPHA:397715
HP:0002088	Abnormal lung morphology	9786	KIAA0586	ORPHA:397715
HP:0002088	Abnormal lung morphology	4914	NTRK1	ORPHA:642
HP:0002088	Abnormal lung morphology	4784	NFIX	OMIM:602535
HP:0002088	Abnormal lung morphology	427	ASAH1	ORPHA:2590
HP:0002088	Abnormal lung morphology	23556	PIGN	ORPHA:280633
HP:0002088	Abnormal lung morphology	2629	GBA1	OMIM:230900
HP:0002088	Abnormal lung morphology	535	ATP6V0A1	OMIM:619971
HP:0002088	Abnormal lung morphology	4281	MID1	ORPHA:2745
HP:0002088	Abnormal lung morphology	29957	SLC25A24	OMIM:612289
HP:0002088	Abnormal lung morphology	7994	KAT6A	OMIM:616268
HP:0002088	Abnormal lung morphology	9361	LONP1	ORPHA:79243
HP:0002088	Abnormal lung morphology	5160	PDHA1	ORPHA:79243
HP:0002088	Abnormal lung morphology	3431	SP110	ORPHA:79124
HP:0002088	Abnormal lung morphology	378884	NHLRC1	ORPHA:501
HP:0002088	Abnormal lung morphology	7957	EPM2A	ORPHA:501
HP:0002088	Abnormal lung morphology	3119	HLA-DQB1	ORPHA:930
HP:0002088	Abnormal lung morphology	9244	CRLF1	ORPHA:930
HP:0002088	Abnormal lung morphology	3117	HLA-DQA1	ORPHA:930
HP:0002088	Abnormal lung morphology	4842	NOS1	ORPHA:930
HP:0002088	Abnormal lung morphology	90417	KNSTRN	ORPHA:221139
HP:0002088	Abnormal lung morphology	10755	GIPC1	ORPHA:98897
HP:0002088	Abnormal lung morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0002088	Abnormal lung morphology	8085	KMT2D	OMIM:147920
HP:0002088	Abnormal lung morphology	7403	KDM6A	OMIM:147920
HP:0002088	Abnormal lung morphology	3930	LBR	OMIM:215140
HP:0002088	Abnormal lung morphology	2737	GLI3	ORPHA:672
HP:0002088	Abnormal lung morphology	2737	GLI3	OMIM:146510
HP:0002088	Abnormal lung morphology	341640	FREM2	ORPHA:2052
HP:0002088	Abnormal lung morphology	80144	FRAS1	ORPHA:2052
HP:0002088	Abnormal lung morphology	23426	GRIP1	ORPHA:2052
HP:0002088	Abnormal lung morphology	23426	GRIP1	OMIM:617667
HP:0002088	Abnormal lung morphology	2187	FANCB	OMIM:300514
HP:0002088	Abnormal lung morphology	51604	PIGT	ORPHA:369837
HP:0002088	Abnormal lung morphology	284086	NEK8	OMIM:615415
HP:0002088	Abnormal lung morphology	1312	COMT	ORPHA:567
HP:0002088	Abnormal lung morphology	221037	JMJD1C	ORPHA:567
HP:0002088	Abnormal lung morphology	2812	GP1BB	ORPHA:567
HP:0002088	Abnormal lung morphology	6239	RREB1	ORPHA:567
HP:0002088	Abnormal lung morphology	6899	TBX1	ORPHA:567
HP:0002088	Abnormal lung morphology	7290	HIRA	ORPHA:567
HP:0002088	Abnormal lung morphology	9632	SEC24C	ORPHA:567
HP:0002088	Abnormal lung morphology	7353	UFD1	ORPHA:567
HP:0002088	Abnormal lung morphology	421	ARVCF	ORPHA:567
HP:0002088	Abnormal lung morphology	219844	HYLS1	OMIM:236680
HP:0002088	Abnormal lung morphology	5728	PTEN	ORPHA:744
HP:0002088	Abnormal lung morphology	207	AKT1	ORPHA:744
HP:0002088	Abnormal lung morphology	22827	PUF60	ORPHA:508488
HP:0002088	Abnormal lung morphology	1717	DHCR7	OMIM:270400
HP:0002088	Abnormal lung morphology	1717	DHCR7	ORPHA:818
HP:0002088	Abnormal lung morphology	79796	ALG9	ORPHA:79328
HP:0002088	Abnormal lung morphology	79796	ALG9	OMIM:263210
HP:0002088	Abnormal lung morphology	9184	BUB3	ORPHA:1052
HP:0002088	Abnormal lung morphology	699	BUB1	ORPHA:1052
HP:0002088	Abnormal lung morphology	9702	CEP57	ORPHA:1052
HP:0002088	Abnormal lung morphology	9702	CEP57	OMIM:614114
HP:0002088	Abnormal lung morphology	9319	TRIP13	ORPHA:1052
HP:0002088	Abnormal lung morphology	701	BUB1B	ORPHA:1052
HP:0002088	Abnormal lung morphology	10436	EMG1	ORPHA:1270
HP:0002088	Abnormal lung morphology	2719	GPC3	OMIM:312870
HP:0002088	Abnormal lung morphology	2239	GPC4	OMIM:312870
HP:0002088	Abnormal lung morphology	4210	MEFV	ORPHA:342
HP:0002088	Abnormal lung morphology	4210	MEFV	OMIM:249100
HP:0002088	Abnormal lung morphology	4210	MEFV	OMIM:134610
HP:0002088	Abnormal lung morphology	4210	MEFV	ORPHA:117
HP:0002088	Abnormal lung morphology	64127	NOD2	OMIM:617321
HP:0002088	Abnormal lung morphology	2212	FCGR2A	OMIM:152700
HP:0002088	Abnormal lung morphology	2213	FCGR2B	OMIM:152700
HP:0002088	Abnormal lung morphology	26191	PTPN22	OMIM:152700
HP:0002088	Abnormal lung morphology	26191	PTPN22	ORPHA:900
HP:0002088	Abnormal lung morphology	11277	TREX1	OMIM:152700
HP:0002088	Abnormal lung morphology	1493	CTLA4	OMIM:152700
HP:0002088	Abnormal lung morphology	1493	CTLA4	ORPHA:900
HP:0002088	Abnormal lung morphology	1773	DNASE1	OMIM:152700
HP:0002088	Abnormal lung morphology	10216	PRG4	ORPHA:2848
HP:0002088	Abnormal lung morphology	7132	TNFRSF1A	OMIM:142680
HP:0002088	Abnormal lung morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002088	Abnormal lung morphology	3115	HLA-DPB1	ORPHA:900
HP:0002088	Abnormal lung morphology	5657	PRTN3	ORPHA:900
HP:0002088	Abnormal lung morphology	3113	HLA-DPA1	ORPHA:900
HP:0002088	Abnormal lung morphology	3662	IRF4	ORPHA:3452
HP:0002088	Abnormal lung morphology	149233	IL23R	ORPHA:117
HP:0002088	Abnormal lung morphology	6775	STAT4	ORPHA:117
HP:0002088	Abnormal lung morphology	3586	IL10	ORPHA:117
HP:0002088	Abnormal lung morphology	1230	CCR1	ORPHA:117
HP:0002088	Abnormal lung morphology	355	FAS	ORPHA:117
HP:0002088	Abnormal lung morphology	3592	IL12A	ORPHA:117
HP:0002088	Abnormal lung morphology	101928376	IL12A-AS1	ORPHA:117
HP:0002088	Abnormal lung morphology	3106	HLA-B	ORPHA:117
HP:0002088	Abnormal lung morphology	7099	TLR4	ORPHA:117
HP:0002088	Abnormal lung morphology	3459	IFNGR1	ORPHA:117
HP:0002088	Abnormal lung morphology	720	C4A	ORPHA:117
HP:0002088	Abnormal lung morphology	337867	UBAC2	ORPHA:117
HP:0002088	Abnormal lung morphology	51752	ERAP1	ORPHA:117
HP:0002088	Abnormal lung morphology	8302	KLRC4	ORPHA:117
HP:0002088	Abnormal lung morphology	8974	P4HA2	ORPHA:397
HP:0002088	Abnormal lung morphology	2990	GUSB	ORPHA:584
HP:0002088	Abnormal lung morphology	940	CD28	ORPHA:3162
HP:0002088	Abnormal lung morphology	7133	TNFRSF1B	ORPHA:3162
HP:0002088	Abnormal lung morphology	10320	IKZF1	ORPHA:36426
HP:0002088	Abnormal lung morphology	27238	GPKOW	ORPHA:2570
HP:0002088	Abnormal lung morphology	8518	ELP1	ORPHA:1764
HP:0002088	Abnormal lung morphology	201163	FLCN	ORPHA:2903
HP:0002088	Abnormal lung morphology	2200	FBN1	OMIM:154700
HP:0002088	Abnormal lung morphology	2200	FBN1	ORPHA:91387
HP:0002088	Abnormal lung morphology	10526	IPO8	OMIM:619472
HP:0002088	Abnormal lung morphology	113189	CHST14	ORPHA:2953
HP:0002088	Abnormal lung morphology	113189	CHST14	OMIM:601776
HP:0002088	Abnormal lung morphology	29940	DSE	ORPHA:2953
HP:0002088	Abnormal lung morphology	10352	WARS2	OMIM:619738
HP:0002088	Abnormal lung morphology	4088	SMAD3	OMIM:613795
HP:0002088	Abnormal lung morphology	4088	SMAD3	ORPHA:91387
HP:0002088	Abnormal lung morphology	4052	LTBP1	ORPHA:90349
HP:0002088	Abnormal lung morphology	30008	EFEMP2	ORPHA:90349
HP:0002088	Abnormal lung morphology	10516	FBLN5	ORPHA:90349
HP:0002088	Abnormal lung morphology	79770	TXNDC15	OMIM:619879
HP:0002088	Abnormal lung morphology	3909	LAMA3	ORPHA:79404
HP:0002088	Abnormal lung morphology	3918	LAMC2	ORPHA:79404
HP:0002088	Abnormal lung morphology	3914	LAMB3	ORPHA:79404
HP:0002088	Abnormal lung morphology	6804	STX1A	ORPHA:586
HP:0002088	Abnormal lung morphology	2947	GSTM3	ORPHA:586
HP:0002088	Abnormal lung morphology	7040	TGFB1	ORPHA:586
HP:0002088	Abnormal lung morphology	2729	GCLC	ORPHA:586
HP:0002088	Abnormal lung morphology	1084	CEACAM3	ORPHA:586
HP:0002088	Abnormal lung morphology	6556	SLC11A1	ORPHA:586
HP:0002088	Abnormal lung morphology	51164	DCTN4	ORPHA:586
HP:0002088	Abnormal lung morphology	3783	KCNN4	ORPHA:586
HP:0002088	Abnormal lung morphology	4282	MIF	ORPHA:586
HP:0002088	Abnormal lung morphology	1909	EDNRA	ORPHA:586
HP:0002088	Abnormal lung morphology	6550	SLC9A3	ORPHA:586
HP:0002088	Abnormal lung morphology	3162	HMOX1	ORPHA:586
HP:0002088	Abnormal lung morphology	115019	SLC26A9	ORPHA:586
HP:0002088	Abnormal lung morphology	3077	HFE	ORPHA:586
HP:0002088	Abnormal lung morphology	11254	SLC6A14	ORPHA:586
HP:0002088	Abnormal lung morphology	22802	CLCA4	ORPHA:586
HP:0002088	Abnormal lung morphology	4680	CEACAM6	ORPHA:586
HP:0002088	Abnormal lung morphology	4921	DDR2	OMIM:618175
HP:0002088	Abnormal lung morphology	523	ATP6V1A	OMIM:617403
HP:0002088	Abnormal lung morphology	529	ATP6V1E1	OMIM:617402
HP:0002088	Abnormal lung morphology	7042	TGFB2	OMIM:614816
HP:0002088	Abnormal lung morphology	7042	TGFB2	ORPHA:91387
HP:0002088	Abnormal lung morphology	3265	HRAS	OMIM:218040
HP:0002088	Abnormal lung morphology	4629	MYH11	ORPHA:91387
HP:0002088	Abnormal lung morphology	7046	TGFBR1	ORPHA:91387
HP:0002088	Abnormal lung morphology	4015	LOX	ORPHA:91387
HP:0002088	Abnormal lung morphology	7043	TGFB3	ORPHA:91387
HP:0002088	Abnormal lung morphology	4089	SMAD4	ORPHA:91387
HP:0002088	Abnormal lung morphology	59	ACTA2	ORPHA:91387
HP:0002088	Abnormal lung morphology	5592	PRKG1	ORPHA:91387
HP:0002088	Abnormal lung morphology	2301	FOXE3	ORPHA:91387
HP:0002088	Abnormal lung morphology	4144	MAT2A	ORPHA:91387
HP:0002088	Abnormal lung morphology	23493	HEY2	ORPHA:91387
HP:0002088	Abnormal lung morphology	8076	MFAP5	ORPHA:91387
HP:0002088	Abnormal lung morphology	4638	MYLK	ORPHA:91387
HP:0002088	Abnormal lung morphology	79875	THSD4	OMIM:619825
HP:0002088	Abnormal lung morphology	857	CAV1	OMIM:606721
HP:0002088	Abnormal lung morphology	7048	TGFBR2	OMIM:610168
HP:0002088	Abnormal lung morphology	199221	DZIP1L	ORPHA:731
HP:0002088	Abnormal lung morphology	5314	PKHD1	ORPHA:731
HP:0002088	Abnormal lung morphology	83483	PLVAP	OMIM:618183
HP:0002088	Abnormal lung morphology	144811	LACC1	ORPHA:85414
HP:0002088	Abnormal lung morphology	3569	IL6	ORPHA:85414
HP:0002088	Abnormal lung morphology	51422	PRKAG2	OMIM:261740
HP:0002088	Abnormal lung morphology	595	CCND1	ORPHA:29073
HP:0002088	Abnormal lung morphology	3702	ITK	OMIM:613011
HP:0002088	Abnormal lung morphology	2548	GAA	OMIM:232300
HP:0002088	Abnormal lung morphology	25821	MTO1	OMIM:614702
HP:0002088	Abnormal lung morphology	6696	SPP1	ORPHA:93552
HP:0002088	Abnormal lung morphology	3654	IRAK1	ORPHA:93552
HP:0002088	Abnormal lung morphology	1776	DNASE1L3	ORPHA:36412
HP:0002088	Abnormal lung morphology	596	BCL2	ORPHA:545
HP:0002088	Abnormal lung morphology	3492	IGH	ORPHA:545
HP:0002088	Abnormal lung morphology	604	BCL6	ORPHA:545
HP:0002088	Abnormal lung morphology	11330	CTRC	OMIM:167800
HP:0002088	Abnormal lung morphology	6690	SPINK1	OMIM:167800
HP:0002088	Abnormal lung morphology	5645	PRSS2	OMIM:167800
HP:0002088	Abnormal lung morphology	5644	PRSS1	OMIM:167800
HP:0002088	Abnormal lung morphology	81	ACTN4	OMIM:603278
HP:0002088	Abnormal lung morphology	84162	BLTP1	OMIM:617822
HP:0002088	Abnormal lung morphology	202018	TAPT1	OMIM:616897
HP:0002088	Abnormal lung morphology	3075	CFH	ORPHA:244242
HP:0002088	Abnormal lung morphology	3426	CFI	ORPHA:244242
HP:0002088	Abnormal lung morphology	4179	CD46	ORPHA:244242
HP:0002088	Abnormal lung morphology	101101692	HELLPAR	ORPHA:244242
HP:0002088	Abnormal lung morphology	54345	SOX18	ORPHA:69735
HP:0002088	Abnormal lung morphology	10551	AGR2	OMIM:620233
HP:0002088	Abnormal lung morphology	2859	GPR35	ORPHA:171
HP:0002088	Abnormal lung morphology	10507	SEMA4D	ORPHA:171
HP:0002088	Abnormal lung morphology	4485	MST1	ORPHA:171
HP:0002088	Abnormal lung morphology	6925	TCF4	ORPHA:171
HP:0002088	Abnormal lung morphology	50619	DEF6	OMIM:619573
HP:0002088	Abnormal lung morphology	11274	USP18	OMIM:617397
HP:0002088	Abnormal lung morphology	738	VPS51	OMIM:618606
HP:0002088	Abnormal lung morphology	2492	FSHR	ORPHA:64739
HP:0002088	Abnormal lung morphology	1130	LYST	ORPHA:167
HP:0002088	Abnormal lung morphology	4615	MYD88	ORPHA:33226
HP:0002088	Abnormal lung morphology	1536	CYBB	OMIM:306400
HP:0002088	Abnormal lung morphology	10203	CALCRL	OMIM:618773
HP:0002088	Abnormal lung morphology	79415	CYBC1	OMIM:618935
HP:0002088	Abnormal lung morphology	9971	NR1H4	OMIM:617049
HP:0002088	Abnormal lung morphology	950	SCARB2	OMIM:254900
HP:0002088	Abnormal lung morphology	650	BMP2	OMIM:235200
HP:0002088	Abnormal lung morphology	8367	H4C5	OMIM:619950
HP:0002088	Abnormal lung morphology	5393	EXOSC9	OMIM:618065
HP:0002088	Abnormal lung morphology	5631	PRPS1	ORPHA:411543
HP:0002088	Abnormal lung morphology	10054	UBA2	OMIM:619959
HP:0002088	Abnormal lung morphology	5238	PGM3	ORPHA:443811
HP:0002088	Abnormal lung morphology	5238	PGM3	OMIM:615816
HP:0002088	Abnormal lung morphology	5880	RAC2	OMIM:618986
HP:0002088	Abnormal lung morphology	5880	RAC2	OMIM:618987
HP:0002088	Abnormal lung morphology	7360	UGP2	OMIM:618744
HP:0002088	Abnormal lung morphology	128178	EDARADD	OMIM:614941
HP:0002088	Abnormal lung morphology	987	LRBA	OMIM:614700
HP:0002088	Abnormal lung morphology	5354	PLP1	ORPHA:99015
HP:0002088	Abnormal lung morphology	249	ALPL	OMIM:241500
HP:0002088	Abnormal lung morphology	613	BCR	ORPHA:261330
HP:0002088	Abnormal lung morphology	1399	CRKL	ORPHA:261330
HP:0002088	Abnormal lung morphology	5594	MAPK1	ORPHA:261330
HP:0002088	Abnormal lung morphology	51506	UFC1	OMIM:618076
HP:0002088	Abnormal lung morphology	283489	CHAMP1	OMIM:616579
HP:0002088	Abnormal lung morphology	65082	VPS33A	OMIM:617303
HP:0002088	Abnormal lung morphology	65082	VPS33A	ORPHA:505248
HP:0002088	Abnormal lung morphology	3543	IGLL1	OMIM:613500
HP:0002088	Abnormal lung morphology	3543	IGLL1	ORPHA:33110
HP:0002088	Abnormal lung morphology	25782	RAB3GAP2	OMIM:212720
HP:0002088	Abnormal lung morphology	5818	NECTIN1	ORPHA:3253
HP:0002088	Abnormal lung morphology	55768	NGLY1	ORPHA:404454
HP:0002088	Abnormal lung morphology	55768	NGLY1	OMIM:615273
HP:0002088	Abnormal lung morphology	4688	NCF2	ORPHA:379
HP:0002088	Abnormal lung morphology	1535	CYBA	ORPHA:379
HP:0002088	Abnormal lung morphology	4689	NCF4	ORPHA:379
HP:0002088	Abnormal lung morphology	653361	NCF1	ORPHA:379
HP:0002088	Abnormal lung morphology	653361	NCF1	ORPHA:904
HP:0002088	Abnormal lung morphology	7535	ZAP70	OMIM:269840
HP:0002088	Abnormal lung morphology	54	ACP5	OMIM:607944
HP:0002088	Abnormal lung morphology	51360	MBTPS2	ORPHA:2273
HP:0002088	Abnormal lung morphology	6772	STAT1	OMIM:614162
HP:0002088	Abnormal lung morphology	284058	KANSL1	ORPHA:363958
HP:0002088	Abnormal lung morphology	284058	KANSL1	ORPHA:363965
HP:0002088	Abnormal lung morphology	6261	RYR1	OMIM:255320
HP:0002088	Abnormal lung morphology	6261	RYR1	ORPHA:424107
HP:0002088	Abnormal lung morphology	6261	RYR1	ORPHA:98905
HP:0002088	Abnormal lung morphology	92579	G6PC3	OMIM:612541
HP:0002088	Abnormal lung morphology	9326	ZNHIT3	ORPHA:2836
HP:0002088	Abnormal lung morphology	547	KIF1A	ORPHA:2836
HP:0002088	Abnormal lung morphology	3572	IL6ST	OMIM:618523
HP:0002088	Abnormal lung morphology	340061	STING1	OMIM:615934
HP:0002088	Abnormal lung morphology	64359	NXN	ORPHA:1507
HP:0002088	Abnormal lung morphology	4920	ROR2	ORPHA:1507
HP:0002088	Abnormal lung morphology	5896	RAG1	OMIM:233650
HP:0002088	Abnormal lung morphology	5897	RAG2	OMIM:233650
HP:0002088	Abnormal lung morphology	100303755	PET117	OMIM:619063
HP:0002088	Abnormal lung morphology	171023	ASXL1	ORPHA:97297
HP:0002088	Abnormal lung morphology	567	B2M	OMIM:241600
HP:0002088	Abnormal lung morphology	28755	TRAC	OMIM:615387
HP:0002088	Abnormal lung morphology	79813	EHMT1	OMIM:610253
HP:0002088	Abnormal lung morphology	3070	HELLS	ORPHA:2268
HP:0002088	Abnormal lung morphology	1789	DNMT3B	ORPHA:2268
HP:0002088	Abnormal lung morphology	83879	CDCA7	ORPHA:2268
HP:0002088	Abnormal lung morphology	9841	ZBTB24	ORPHA:2268
HP:0002088	Abnormal lung morphology	2752	GLUL	OMIM:610015
HP:0002088	Abnormal lung morphology	3425	IDUA	OMIM:607014
HP:0002088	Abnormal lung morphology	3425	IDUA	OMIM:607015
HP:0002088	Abnormal lung morphology	3425	IDUA	ORPHA:93473
HP:0002088	Abnormal lung morphology	175	AGA	ORPHA:93
HP:0002088	Abnormal lung morphology	175	AGA	OMIM:208400
HP:0002088	Abnormal lung morphology	4853	NOTCH2	ORPHA:955
HP:0002088	Abnormal lung morphology	113278	SLC52A3	OMIM:211530
HP:0002088	Abnormal lung morphology	7092	TLL1	ORPHA:99106
HP:0002088	Abnormal lung morphology	4534	MTM1	ORPHA:596
HP:0002088	Abnormal lung morphology	30011	SH3KBP1	OMIM:300310
HP:0002088	Abnormal lung morphology	330	BIRC3	ORPHA:52417
HP:0002088	Abnormal lung morphology	10892	MALT1	ORPHA:52417
HP:0002088	Abnormal lung morphology	27086	FOXP1	ORPHA:52417
HP:0002088	Abnormal lung morphology	8915	BCL10	ORPHA:52417
HP:0002088	Abnormal lung morphology	10043	TOM1	OMIM:619510
HP:0002088	Abnormal lung morphology	57217	TTC7A	OMIM:243150
HP:0002088	Abnormal lung morphology	55773	TBC1D23	OMIM:617695
HP:0002088	Abnormal lung morphology	7461	CLIP2	ORPHA:904
HP:0002088	Abnormal lung morphology	84277	DNAJC30	ORPHA:904
HP:0002088	Abnormal lung morphology	8468	FKBP6	ORPHA:904
HP:0002088	Abnormal lung morphology	5982	RFC2	ORPHA:904
HP:0002088	Abnormal lung morphology	2969	GTF2I	ORPHA:904
HP:0002088	Abnormal lung morphology	3984	LIMK1	ORPHA:904
HP:0002088	Abnormal lung morphology	9569	GTF2IRD1	ORPHA:904
HP:0002088	Abnormal lung morphology	155382	VPS37D	ORPHA:904
HP:0002088	Abnormal lung morphology	155368	METTL27	ORPHA:904
HP:0002088	Abnormal lung morphology	114049	BUD23	ORPHA:904
HP:0002088	Abnormal lung morphology	7458	EIF4H	ORPHA:904
HP:0002088	Abnormal lung morphology	84163	GTF2IRD2	ORPHA:904
HP:0002088	Abnormal lung morphology	9275	BCL7B	ORPHA:904
HP:0002088	Abnormal lung morphology	26608	TBL2	ORPHA:904
HP:0002088	Abnormal lung morphology	135886	TMEM270	ORPHA:904
HP:0002088	Abnormal lung morphology	51085	MLXIPL	ORPHA:904
HP:0002088	Abnormal lung morphology	9031	BAZ1B	ORPHA:904
HP:0002088	Abnormal lung morphology	7454	WAS	ORPHA:906
HP:0002088	Abnormal lung morphology	7456	WIPF1	ORPHA:906
HP:0002088	Abnormal lung morphology	8364	H4C3	OMIM:619758
HP:0002088	Abnormal lung morphology	11128	POLR3A	OMIM:264090
HP:0002088	Abnormal lung morphology	3675	ITGA3	OMIM:614748
HP:0002088	Abnormal lung morphology	6609	SMPD1	OMIM:257200
HP:0002088	Abnormal lung morphology	6609	SMPD1	OMIM:607616
HP:0002088	Abnormal lung morphology	2624	GATA2	ORPHA:3226
HP:0002088	Abnormal lung morphology	472	ATM	ORPHA:100
HP:0002088	Abnormal lung morphology	3507	IGHM	OMIM:601495
HP:0002088	Abnormal lung morphology	3507	IGHM	ORPHA:33110
HP:0002088	Abnormal lung morphology	4644	MYO5A	ORPHA:33445
HP:0002088	Abnormal lung morphology	2316	FLNA	ORPHA:2484
HP:0002088	Abnormal lung morphology	2316	FLNA	OMIM:309350
HP:0002088	Abnormal lung morphology	9772	TMEM94	OMIM:618316
HP:0002088	Abnormal lung morphology	917	CD3G	OMIM:615607
HP:0002088	Abnormal lung morphology	9338	TCEAL1	OMIM:301094
HP:0002088	Abnormal lung morphology	26154	ABCA12	ORPHA:457
HP:0002088	Abnormal lung morphology	26154	ABCA12	ORPHA:313
HP:0002088	Abnormal lung morphology	3718	JAK3	ORPHA:35078
HP:0002088	Abnormal lung morphology	85452	CFAP74	OMIM:620197
HP:0002088	Abnormal lung morphology	6638	SNRPN	ORPHA:98754
HP:0002088	Abnormal lung morphology	6638	SNRPN	ORPHA:177904
HP:0002088	Abnormal lung morphology	6638	SNRPN	ORPHA:177901
HP:0002088	Abnormal lung morphology	6638	SNRPN	ORPHA:177907
HP:0002088	Abnormal lung morphology	4692	NDN	ORPHA:98754
HP:0002088	Abnormal lung morphology	4692	NDN	ORPHA:177904
HP:0002088	Abnormal lung morphology	4692	NDN	ORPHA:177901
HP:0002088	Abnormal lung morphology	54551	MAGEL2	ORPHA:98754
HP:0002088	Abnormal lung morphology	54551	MAGEL2	OMIM:176270
HP:0002088	Abnormal lung morphology	54551	MAGEL2	ORPHA:177904
HP:0002088	Abnormal lung morphology	54551	MAGEL2	ORPHA:177901
HP:0002088	Abnormal lung morphology	54551	MAGEL2	ORPHA:398069
HP:0002088	Abnormal lung morphology	4948	OCA2	ORPHA:98754
HP:0002088	Abnormal lung morphology	4948	OCA2	ORPHA:177904
HP:0002088	Abnormal lung morphology	4948	OCA2	ORPHA:177901
HP:0002088	Abnormal lung morphology	57724	EPG5	OMIM:242840
HP:0002088	Abnormal lung morphology	57724	EPG5	ORPHA:1493
HP:0002088	Abnormal lung morphology	8242	KDM5C	OMIM:300534
HP:0002088	Abnormal lung morphology	197258	FCSK	OMIM:618324
HP:0002088	Abnormal lung morphology	79989	IFT56	OMIM:619534
HP:0002088	Abnormal lung morphology	84522	JAGN1	OMIM:616022
HP:0002088	Abnormal lung morphology	50943	FOXP3	ORPHA:37042
HP:0002088	Abnormal lung morphology	3551	IKBKB	OMIM:618204
HP:0002088	Abnormal lung morphology	23219	FBXO28	OMIM:619777
HP:0002088	Abnormal lung morphology	916	CD3E	OMIM:615615
HP:0002088	Abnormal lung morphology	51322	WAC	ORPHA:466950
HP:0002088	Abnormal lung morphology	915	CD3D	OMIM:615617
HP:0002088	Abnormal lung morphology	6509	SLC1A4	ORPHA:447997
HP:0002088	Abnormal lung morphology	79087	ALG12	ORPHA:79324
HP:0002088	Abnormal lung morphology	2000	ELF4	OMIM:301074
HP:0002088	Abnormal lung morphology	6595	SMARCA2	OMIM:601358
HP:0002088	Abnormal lung morphology	7227	TRPS1	OMIM:190350
HP:0002088	Abnormal lung morphology	51053	GMNN	OMIM:616835
HP:0002088	Abnormal lung morphology	7319	UBE2A	ORPHA:163956
HP:0002088	Abnormal lung morphology	5062	PAK2	OMIM:618458
HP:0002088	Abnormal lung morphology	1828	DSG1	OMIM:615508
HP:0002088	Abnormal lung morphology	79751	SLC25A22	ORPHA:1935
HP:0002088	Abnormal lung morphology	150094	SIK1	ORPHA:1935
HP:0002088	Abnormal lung morphology	5830	PEX5	OMIM:616716
HP:0002088	Abnormal lung morphology	219285	SAMD9L	ORPHA:2585
HP:0002088	Abnormal lung morphology	204	AK2	ORPHA:33355
HP:0002088	Abnormal lung morphology	4126	MANBA	ORPHA:118
HP:0002088	Abnormal lung morphology	6929	TCF3	ORPHA:33110
HP:0002088	Abnormal lung morphology	973	CD79A	ORPHA:33110
HP:0002088	Abnormal lung morphology	974	CD79B	ORPHA:33110
HP:0002088	Abnormal lung morphology	29760	BLNK	ORPHA:33110
HP:0002088	Abnormal lung morphology	5295	PIK3R1	ORPHA:33110
HP:0002088	Abnormal lung morphology	5295	PIK3R1	OMIM:615214
HP:0002088	Abnormal lung morphology	56262	LRRC8A	ORPHA:33110
HP:0002088	Abnormal lung morphology	331	XIAP	OMIM:300635
HP:0002088	Abnormal lung morphology	331	XIAP	OMIM:308240
HP:0002088	Abnormal lung morphology	23394	ADNP	OMIM:615873
HP:0002088	Abnormal lung morphology	8818	DPM2	ORPHA:329178
HP:0002088	Abnormal lung morphology	8737	RIPK1	OMIM:618108
HP:0002088	Abnormal lung morphology	4173	MCM4	OMIM:609981
HP:0002088	Abnormal lung morphology	113235	SLC46A1	ORPHA:90045
HP:0002088	Abnormal lung morphology	7681	MKRN3	OMIM:176270
HP:0002088	Abnormal lung morphology	3653	IPW	OMIM:176270
HP:0002088	Abnormal lung morphology	791114	PWRN1	OMIM:176270
HP:0002088	Abnormal lung morphology	100033413	SNORD116-1	OMIM:176270
HP:0002088	Abnormal lung morphology	8924	HERC2	OMIM:176270
HP:0002088	Abnormal lung morphology	145624	PWAR1	OMIM:176270
HP:0002088	Abnormal lung morphology	23742	NPAP1	OMIM:176270
HP:0002088	Abnormal lung morphology	338433	SNORD115-1	OMIM:176270
HP:0002088	Abnormal lung morphology	3981	LIG4	OMIM:606593
HP:0002088	Abnormal lung morphology	7372	UMPS	ORPHA:30
HP:0002088	Abnormal lung morphology	57379	AICDA	OMIM:605258
HP:0002088	Abnormal lung morphology	57511	COG6	ORPHA:363523
HP:0002088	Abnormal lung morphology	23114	NFASC	OMIM:618356
HP:0002088	Abnormal lung morphology	4792	NFKBIA	OMIM:612132
HP:0002088	Abnormal lung morphology	6606	SMN1	OMIM:253550
HP:0002088	Abnormal lung morphology	6606	SMN1	OMIM:253300
HP:0002088	Abnormal lung morphology	6905	TBCE	ORPHA:2323
HP:0002088	Abnormal lung morphology	83479	DDX59	OMIM:174300
HP:0002088	Abnormal lung morphology	6492	SIM1	ORPHA:398079
HP:0002088	Abnormal lung morphology	5660	PSAP	ORPHA:139406
HP:0002088	Abnormal lung morphology	114803	MYSM1	OMIM:618116
HP:0002088	Abnormal lung morphology	59067	IL21	OMIM:615767
HP:0002088	Abnormal lung morphology	4952	OCRL	ORPHA:534
HP:0002088	Abnormal lung morphology	4068	SH2D1A	OMIM:308240
HP:0002088	Abnormal lung morphology	79158	GNPTAB	ORPHA:576
HP:0002088	Abnormal lung morphology	5994	RFXAP	ORPHA:572
HP:0002088	Abnormal lung morphology	4261	CIITA	ORPHA:572
HP:0002088	Abnormal lung morphology	5993	RFX5	ORPHA:572
HP:0002088	Abnormal lung morphology	8625	RFXANK	ORPHA:572
HP:0002088	Abnormal lung morphology	57551	TAOK1	OMIM:619575
HP:0002088	Abnormal lung morphology	84061	MAGT1	OMIM:300853
HP:0002088	Abnormal lung morphology	4621	MYH3	OMIM:193700
HP:0002088	Abnormal lung morphology	3394	IRF8	OMIM:226990
HP:0002088	Abnormal lung morphology	6335	SCN9A	ORPHA:90026
HP:0002088	Abnormal lung morphology	11280	SCN11A	ORPHA:90026
HP:0002088	Abnormal lung morphology	6336	SCN10A	ORPHA:90026
HP:0002088	Abnormal lung morphology	55764	IFT122	OMIM:218330
HP:0002088	Abnormal lung morphology	7703	PCGF2	OMIM:618371
HP:0002088	Abnormal lung morphology	774	CACNA1B	OMIM:618497
HP:0002088	Abnormal lung morphology	4478	MSN	OMIM:300988
HP:0002088	Abnormal lung morphology	7161	TP73	OMIM:619466
HP:0002088	Abnormal lung morphology	254428	SLC41A1	OMIM:619468
HP:0002088	Abnormal lung morphology	51300	TIMMDC1	OMIM:618251
HP:0002088	Abnormal lung morphology	8802	SUCLG1	ORPHA:17
HP:0002088	Abnormal lung morphology	146206	CARMIL2	OMIM:618131
HP:0002088	Abnormal lung morphology	3560	IL2RB	OMIM:618495
HP:0002088	Abnormal lung morphology	84818	IL17RC	ORPHA:1334
HP:0002088	Abnormal lung morphology	64581	CLEC7A	ORPHA:1334
HP:0002088	Abnormal lung morphology	23765	IL17RA	ORPHA:1334
HP:0002088	Abnormal lung morphology	23765	IL17RA	OMIM:613953
HP:0002088	Abnormal lung morphology	10758	TRAF3IP2	ORPHA:1334
HP:0002088	Abnormal lung morphology	112744	IL17F	ORPHA:1334
HP:0002088	Abnormal lung morphology	860	RUNX2	ORPHA:1452
HP:0002088	Abnormal lung morphology	25839	COG4	OMIM:613489
HP:0002088	Abnormal lung morphology	115650	TNFRSF13C	ORPHA:1572
HP:0002088	Abnormal lung morphology	1380	CR2	ORPHA:1572
HP:0002088	Abnormal lung morphology	1380	CR2	OMIM:614699
HP:0002088	Abnormal lung morphology	8742	TNFSF12	ORPHA:1572
HP:0002088	Abnormal lung morphology	5580	PRKCD	ORPHA:1572
HP:0002088	Abnormal lung morphology	930	CD19	ORPHA:1572
HP:0002088	Abnormal lung morphology	930	CD19	OMIM:613493
HP:0002088	Abnormal lung morphology	29851	ICOS	ORPHA:1572
HP:0002088	Abnormal lung morphology	931	MS4A1	ORPHA:1572
HP:0002088	Abnormal lung morphology	931	MS4A1	OMIM:613495
HP:0002088	Abnormal lung morphology	975	CD81	ORPHA:1572
HP:0002088	Abnormal lung morphology	975	CD81	OMIM:613496
HP:0002088	Abnormal lung morphology	359948	IRF2BP2	ORPHA:1572
HP:0002088	Abnormal lung morphology	8883	NAE1	OMIM:620210
HP:0002088	Abnormal lung morphology	2313	FLI1	ORPHA:2308
HP:0002088	Abnormal lung morphology	151516	ASPRV1	ORPHA:313
HP:0002088	Abnormal lung morphology	242	ALOX12B	ORPHA:313
HP:0002088	Abnormal lung morphology	126410	CYP4F22	ORPHA:313
HP:0002088	Abnormal lung morphology	6820	SULT2B1	ORPHA:313
HP:0002088	Abnormal lung morphology	643418	LIPN	ORPHA:313
HP:0002088	Abnormal lung morphology	59344	ALOXE3	ORPHA:313
HP:0002088	Abnormal lung morphology	348938	NIPAL4	ORPHA:313
HP:0002088	Abnormal lung morphology	121214	SDR9C7	ORPHA:313
HP:0002088	Abnormal lung morphology	7051	TGM1	ORPHA:313
HP:0002088	Abnormal lung morphology	1075	CTSC	ORPHA:678
HP:0002088	Abnormal lung morphology	8943	AP3D1	OMIM:617050
HP:0002088	Abnormal lung morphology	2517	FUCA1	OMIM:230000
HP:0002088	Abnormal lung morphology	5184	PEPD	ORPHA:742
HP:0002088	Abnormal lung morphology	3636	INPPL1	OMIM:258480
HP:0002088	Abnormal lung morphology	3636	INPPL1	ORPHA:2746
HP:0002088	Abnormal lung morphology	2077	ERF	OMIM:617180
HP:0002088	Abnormal lung morphology	374354	NHLRC2	OMIM:618278
HP:0002088	Abnormal lung morphology	55617	TASP1	OMIM:618950
HP:0002088	Abnormal lung morphology	54790	TET2	OMIM:619126
HP:0002088	Abnormal lung morphology	8239	USP9X	OMIM:300968
HP:0002088	Abnormal lung morphology	51124	IER3IP1	OMIM:614231
HP:0002088	Abnormal lung morphology	57477	SHROOM4	ORPHA:85288
HP:0002088	Abnormal lung morphology	83737	ITCH	OMIM:613385
HP:0002088	Abnormal lung morphology	84340	GFM2	OMIM:618397
HP:0002088	Abnormal lung morphology	10398	MYL9	OMIM:619365
HP:0002088	Abnormal lung morphology	10293	TRAIP	OMIM:616777
HP:0002088	Abnormal lung morphology	6911	TBX6	ORPHA:1797
HP:0002088	Abnormal lung morphology	11005	SPINK5	OMIM:256500
HP:0002088	Abnormal lung morphology	11005	SPINK5	ORPHA:634
HP:0002088	Abnormal lung morphology	2890	GRIA1	OMIM:619927
HP:0002088	Abnormal lung morphology	50615	IL21R	OMIM:615207
HP:0002088	Abnormal lung morphology	7297	TYK2	OMIM:611521
HP:0002088	Abnormal lung morphology	60482	SLC5A7	ORPHA:98914
HP:0002088	Abnormal lung morphology	4649	MYO9A	ORPHA:98914
HP:0002088	Abnormal lung morphology	1305	COL13A1	ORPHA:98914
HP:0002088	Abnormal lung morphology	1103	CHAT	ORPHA:98914
HP:0002088	Abnormal lung morphology	6576	SLC25A1	ORPHA:98914
HP:0002088	Abnormal lung morphology	6843	VAMP1	ORPHA:98914
HP:0002088	Abnormal lung morphology	375790	AGRN	ORPHA:98914
HP:0002088	Abnormal lung morphology	127833	SYT2	ORPHA:98914
HP:0002088	Abnormal lung morphology	6572	SLC18A3	ORPHA:98914
HP:0002088	Abnormal lung morphology	6616	SNAP25	ORPHA:98914
HP:0002088	Abnormal lung morphology	84433	CARD11	OMIM:615206
HP:0002088	Abnormal lung morphology	1893	ECM1	ORPHA:530
HP:0002088	Abnormal lung morphology	925	CD8A	OMIM:608957
HP:0002088	Abnormal lung morphology	84905	ZNF341	OMIM:618282
HP:0002088	Abnormal lung morphology	9895	TECPR2	ORPHA:320385
HP:0002088	Abnormal lung morphology	4938	OAS1	OMIM:618042
HP:0002088	Abnormal lung morphology	8651	SOCS1	OMIM:619375
HP:0002088	Abnormal lung morphology	5116	PCNT	ORPHA:2637
HP:0002088	Abnormal lung morphology	5430	POLR2A	OMIM:618603
HP:0002088	Abnormal lung morphology	23522	KAT6B	ORPHA:3047
HP:0002088	Abnormal lung morphology	9897	WASHC5	ORPHA:7
HP:0002088	Abnormal lung morphology	28952	CCDC22	ORPHA:7
HP:0002088	Abnormal lung morphology	4860	PNP	ORPHA:760
HP:0002088	Abnormal lung morphology	4204	MECP2	OMIM:300260
HP:0002088	Abnormal lung morphology	129285	PPP1R21	OMIM:619383
HP:0002088	Abnormal lung morphology	80169	CTC1	ORPHA:1775
HP:0002088	Abnormal lung morphology	26277	TINF2	ORPHA:1775
HP:0002088	Abnormal lung morphology	55651	NHP2	ORPHA:1775
HP:0002088	Abnormal lung morphology	79650	USB1	ORPHA:1775
HP:0002088	Abnormal lung morphology	55135	WRAP53	ORPHA:1775
HP:0002088	Abnormal lung morphology	4869	NPM1	ORPHA:1775
HP:0002088	Abnormal lung morphology	7012	TERC	ORPHA:1775
HP:0002088	Abnormal lung morphology	55505	NOP10	ORPHA:1775
HP:0002088	Abnormal lung morphology	5073	PARN	ORPHA:1775
HP:0002088	Abnormal lung morphology	1736	DKC1	ORPHA:1775
HP:0002088	Abnormal lung morphology	7298	TYMS	ORPHA:1775
HP:0002088	Abnormal lung morphology	406932	MIR140	OMIM:618618
HP:0002088	Abnormal lung morphology	6688	SPI1	OMIM:619707
HP:0002088	Abnormal lung morphology	25871	NEPRO	OMIM:618853
HP:0002088	Abnormal lung morphology	9325	TRIP4	ORPHA:486815
HP:0002088	Abnormal lung morphology	843	CASP10	ORPHA:3261
HP:0002088	Abnormal lung morphology	10125	RASGRP1	ORPHA:3261
HP:0002088	Abnormal lung morphology	55213	RCBTB1	OMIM:617175
HP:0002088	Abnormal lung morphology	3257	HPS1	OMIM:203300
HP:0002088	Abnormal lung morphology	1235	CCR6	ORPHA:220402
HP:0002088	Abnormal lung morphology	1235	CCR6	ORPHA:220393
HP:0002088	Abnormal lung morphology	79932	KIAA0319L	ORPHA:220402
HP:0002088	Abnormal lung morphology	1490	CCN2	ORPHA:220402
HP:0002088	Abnormal lung morphology	1490	CCN2	ORPHA:220393
HP:0002088	Abnormal lung morphology	3663	IRF5	ORPHA:220402
HP:0002088	Abnormal lung morphology	3663	IRF5	ORPHA:220393
HP:0002088	Abnormal lung morphology	89781	HPS4	OMIM:614073
HP:0002088	Abnormal lung morphology	55596	ZCCHC8	OMIM:618674
HP:0002088	Abnormal lung morphology	4141	MARS1	OMIM:615486
HP:0002088	Abnormal lung morphology	79803	HPS6	OMIM:614075
HP:0002088	Abnormal lung morphology	3557	IL1RN	OMIM:612852
HP:0002088	Abnormal lung morphology	6117	RPA1	OMIM:619767
HP:0002088	Abnormal lung morphology	1962	EHHADH	ORPHA:3337
HP:0002088	Abnormal lung morphology	2628	GATM	ORPHA:3337
HP:0002088	Abnormal lung morphology	6569	SLC34A1	ORPHA:3337
HP:0002088	Abnormal lung morphology	10577	NPC2	OMIM:607625
HP:0002088	Abnormal lung morphology	79991	STN1	ORPHA:2032
HP:0002088	Abnormal lung morphology	1832	DSP	ORPHA:2032
HP:0002088	Abnormal lung morphology	10144	FAM13A	ORPHA:2032
HP:0002088	Abnormal lung morphology	23250	ATP11A	ORPHA:2032
HP:0002088	Abnormal lung morphology	91039	DPP9	ORPHA:2032
HP:0002088	Abnormal lung morphology	8546	AP3B1	OMIM:608233
HP:0002088	Abnormal lung morphology	29893	PSMC3IP	ORPHA:243
HP:0002088	Abnormal lung morphology	171568	POLR3H	ORPHA:243
HP:0002088	Abnormal lung morphology	2516	NR5A1	ORPHA:243
HP:0002088	Abnormal lung morphology	125150	ZSWIM7	ORPHA:243
HP:0002088	Abnormal lung morphology	9210	BMP15	ORPHA:243
HP:0002088	Abnormal lung morphology	23514	SPIDR	ORPHA:243
HP:0002088	Abnormal lung morphology	56945	MRPS22	ORPHA:243
HP:0002088	Abnormal lung morphology	646	BNC1	ORPHA:243
HP:0002088	Abnormal lung morphology	57187	THOC2	ORPHA:457240
HP:0002088	Abnormal lung morphology	374393	FAM111B	OMIM:615704
HP:0002088	Abnormal lung morphology	1291	COL6A1	OMIM:254090
HP:0002088	Abnormal lung morphology	1292	COL6A2	OMIM:254090
HP:0002088	Abnormal lung morphology	1293	COL6A3	OMIM:254090
HP:0002088	Abnormal lung morphology	213	ALB	OMIM:616000
HP:0002088	Abnormal lung morphology	213	ALB	ORPHA:86816
HP:0002088	Abnormal lung morphology	79912	PYROXD1	OMIM:617258
HP:0002088	Abnormal lung morphology	3932	LCK	OMIM:615758
HP:0002088	Abnormal lung morphology	8021	NUP214	OMIM:618426
HP:0002088	Abnormal lung morphology	54440	SASH3	OMIM:301082
HP:0002088	Abnormal lung morphology	959	CD40LG	OMIM:308230
HP:0002088	Abnormal lung morphology	79759	ZNF668	OMIM:620194
HP:0002088	Abnormal lung morphology	3575	IL7R	ORPHA:169154
HP:0002088	Abnormal lung morphology	1289	COL5A1	OMIM:130000
HP:0002088	Abnormal lung morphology	11151	CORO1A	OMIM:615401
HP:0002088	Abnormal lung morphology	8547	FCN3	OMIM:613860
HP:0002088	Abnormal lung morphology	10525	HYOU1	OMIM:233600
HP:0002088	Abnormal lung morphology	4780	NFE2L2	OMIM:617744
HP:0002088	Abnormal lung morphology	5591	PRKDC	OMIM:615966
HP:0002088	Abnormal lung morphology	91869	RFT1	OMIM:612015
HP:0002088	Abnormal lung morphology	8292	COLQ	ORPHA:98915
HP:0002088	Abnormal lung morphology	3913	LAMB2	ORPHA:98915
HP:0002088	Abnormal lung morphology	6662	SOX9	OMIM:114290
HP:0002088	Abnormal lung morphology	3908	LAMA2	ORPHA:258
HP:0002088	Abnormal lung morphology	57609	DIP2B	OMIM:136630
HP:0002088	Abnormal lung morphology	4718	NDUFC2	OMIM:619170
HP:0002088	Abnormal lung morphology	3978	LIG1	OMIM:619774
HP:0002088	Abnormal lung morphology	2530	FUT8	OMIM:618005
HP:0002088	Abnormal lung morphology	50628	GEMIN4	OMIM:617913
HP:0002088	Abnormal lung morphology	5426	POLE	OMIM:615139
HP:0002088	Abnormal lung morphology	92344	GORAB	OMIM:231070
HP:0002088	Abnormal lung morphology	1604	CD55	OMIM:226300
HP:0002088	Abnormal lung morphology	4591	TRIM37	OMIM:253250
HP:0002088	Abnormal lung morphology	7407	VARS1	OMIM:617802
HP:0002088	Abnormal lung morphology	6304	SATB1	OMIM:619229
HP:0002088	Abnormal lung morphology	9138	ARHGEF1	OMIM:618459
HP:0002088	Abnormal lung morphology	100	ADA	ORPHA:277
HP:0002088	Abnormal lung morphology	6448	SGSH	OMIM:252900
HP:0002088	Abnormal lung morphology	411	ARSB	OMIM:253200
HP:0002088	Abnormal lung morphology	6813	STXBP2	OMIM:613101
HP:0002088	Abnormal lung morphology	3952	LEP	ORPHA:66628
HP:0002088	Abnormal lung morphology	3952	LEP	OMIM:614962
HP:0002088	Abnormal lung morphology	3423	IDS	ORPHA:217085
HP:0002088	Abnormal lung morphology	3423	IDS	ORPHA:217093
HP:0002088	Abnormal lung morphology	3953	LEPR	OMIM:614963
HP:0002088	Abnormal lung morphology	3953	LEPR	ORPHA:179494
HP:0002088	Abnormal lung morphology	8456	FOXN1	OMIM:618806
HP:0002088	Abnormal lung morphology	7840	ALMS1	ORPHA:64
HP:0002088	Abnormal lung morphology	3852	KRT5	OMIM:619599
HP:0002088	Abnormal lung morphology	2588	GALNS	OMIM:253000
HP:0002088	Abnormal lung morphology	920	CD4	OMIM:619238
HP:0002088	Abnormal lung morphology	3570	IL6R	OMIM:618944
HP:0002088	Abnormal lung morphology	5971	RELB	OMIM:617585
HP:0002088	Abnormal lung morphology	5340	PLG	OMIM:217090
HP:0002088	Abnormal lung morphology	51341	ZBTB7A	OMIM:619769
HP:0002088	Abnormal lung morphology	2799	GNS	OMIM:252940
HP:0002088	Abnormal lung morphology	23247	KATNIP	OMIM:616784
HP:0002088	Abnormal lung morphology	138050	HGSNAT	OMIM:252930
HP:0002088	Abnormal lung morphology	64421	DCLRE1C	OMIM:602450
HP:0002088	Abnormal lung morphology	2542	SLC37A4	OMIM:232240
HP:0002088	Abnormal lung morphology	55023	PHIP	ORPHA:589905
HP:0002088	Abnormal lung morphology	7388	UQCRH	OMIM:620137
HP:0002088	Abnormal lung morphology	5696	PSMB8	OMIM:256040
HP:0002088	Abnormal lung morphology	4669	NAGLU	OMIM:252920
HP:0002088	Abnormal lung morphology	54808	DYM	ORPHA:239
HP:0002088	Abnormal lung morphology	3588	IL10RB	OMIM:612567
HP:0002088	Abnormal lung morphology	6901	TAFAZZIN	OMIM:302060
HP:0002088	Abnormal lung morphology	4286	MITF	ORPHA:895
HP:0002088	Abnormal lung morphology	7299	TYR	ORPHA:895
HP:0002088	Abnormal lung morphology	6591	SNAI2	ORPHA:895
HP:0002088	Abnormal lung morphology	1910	EDNRB	ORPHA:895
HP:0002088	Abnormal lung morphology	4254	KITLG	ORPHA:895
HP:0002088	Abnormal lung morphology	6663	SOX10	ORPHA:895
HP:0002088	Abnormal lung morphology	4000	LMNA	ORPHA:363618
HP:0002088	Abnormal lung morphology	4000	LMNA	ORPHA:79474
HP:0002088	Abnormal lung morphology	145173	B3GLCT	ORPHA:709
HP:0002088	Abnormal lung morphology	5080	PAX6	ORPHA:1065
HP:0002088	Abnormal lung morphology	3708	ITPR1	ORPHA:1065
HP:0002088	Abnormal lung morphology	55109	AGGF1	ORPHA:90308
HP:0002088	Abnormal lung morphology	9968	MED12	OMIM:301068
HP:0002088	Abnormal lung morphology	2006	ELN	OMIM:185500
HP:0002088	Abnormal lung morphology	6134	RPL10	OMIM:300998
HP:0002088	Abnormal lung morphology	6134	RPL10	ORPHA:459070
HP:0002088	Abnormal lung morphology	6134	RPL10	ORPHA:435938
HP:0002088	Abnormal lung morphology	81031	SLC2A10	OMIM:208050
HP:0002088	Abnormal lung morphology	81031	SLC2A10	ORPHA:3342
HP:0002088	Abnormal lung morphology	8260	NAA10	OMIM:300855
HP:0002088	Abnormal lung morphology	8260	NAA10	ORPHA:276432
HP:0002088	Abnormal lung morphology	1272	CNTN1	OMIM:612540
HP:0002088	Abnormal lung morphology	10082	GPC6	OMIM:258315
HP:0002088	Abnormal lung morphology	9487	PIGL	OMIM:280000
HP:0002088	Abnormal lung morphology	64919	BCL11B	OMIM:617237
HP:0002088	Abnormal lung morphology	57514	ARHGAP31	OMIM:100300
HP:0002088	Abnormal lung morphology	2627	GATA6	ORPHA:2255
HP:0002088	Abnormal lung morphology	2627	GATA6	OMIM:600001
HP:0002088	Abnormal lung morphology	22800	RRAS2	ORPHA:648
HP:0002088	Abnormal lung morphology	8216	LZTR1	ORPHA:648
HP:0002088	Abnormal lung morphology	6016	RIT1	ORPHA:648
HP:0002088	Abnormal lung morphology	6237	RRAS	ORPHA:648
HP:0002088	Abnormal lung morphology	5894	RAF1	ORPHA:648
HP:0002088	Abnormal lung morphology	22808	MRAS	ORPHA:648
HP:0002088	Abnormal lung morphology	200734	SPRED2	ORPHA:648
HP:0002088	Abnormal lung morphology	4893	NRAS	ORPHA:648
HP:0002088	Abnormal lung morphology	6654	SOS1	ORPHA:648
HP:0002088	Abnormal lung morphology	6655	SOS2	ORPHA:648
HP:0002088	Abnormal lung morphology	5922	RASA2	ORPHA:648
HP:0002088	Abnormal lung morphology	7486	WRN	ORPHA:902
HP:0002088	Abnormal lung morphology	54361	WNT4	OMIM:611812
HP:0002088	Abnormal lung morphology	9839	ZEB2	OMIM:235730
HP:0002088	Abnormal lung morphology	415	ARSL	ORPHA:79345
HP:0002088	Abnormal lung morphology	1186	CLCN7	ORPHA:667
HP:0002088	Abnormal lung morphology	29887	SNX10	ORPHA:667
HP:0002088	Abnormal lung morphology	8600	TNFSF11	ORPHA:667
HP:0002088	Abnormal lung morphology	2626	GATA4	ORPHA:251071
HP:0002088	Abnormal lung morphology	5422	POLA1	OMIM:301030
HP:0002088	Abnormal lung morphology	2623	GATA1	OMIM:190685
HP:0002088	Abnormal lung morphology	4256	MGP	ORPHA:85202
HP:0002088	Abnormal lung morphology	92002	CCNQ	ORPHA:140952
HP:0002088	Abnormal lung morphology	1482	NKX2-5	OMIM:614432
HP:0002088	Abnormal lung morphology	388015	RTL1	ORPHA:96334
HP:0002088	Abnormal lung morphology	8788	DLK1	ORPHA:96334
HP:0002088	Abnormal lung morphology	55384	MEG3	ORPHA:96334
HP:0002088	Abnormal lung morphology	26146	TRAF3IP1	OMIM:616629
HP:0002088	Abnormal lung morphology	9509	ADAMTS2	OMIM:225410
HP:0002088	Abnormal lung morphology	57731	SPTBN4	OMIM:617519
HP:0002088	Abnormal lung morphology	171019	ADAMTS19	OMIM:620067
HP:0002088	Abnormal lung morphology	5337	PLD1	OMIM:212093
HP:0002088	Abnormal lung morphology	78987	CRELD1	OMIM:606217
HP:0002088	Abnormal lung morphology	84231	TRAF7	OMIM:618164
HP:0002088	Abnormal lung morphology	2324	FLT4	OMIM:618780
HP:0002088	Abnormal lung morphology	8772	FADD	OMIM:613759
HP:0002088	Abnormal lung morphology	8772	FADD	ORPHA:306550
HP:0002088	Abnormal lung morphology	55593	OTUD5	OMIM:301056
HP:0002088	Abnormal lung morphology	1857	DVL3	OMIM:616894
HP:0002088	Abnormal lung morphology	168507	PKD1L1	OMIM:617205
HP:0002088	Abnormal lung morphology	55636	CHD7	OMIM:214800
HP:0002088	Abnormal lung morphology	9993	DGCR2	OMIM:192430
HP:0002088	Abnormal lung morphology	8220	ESS2	OMIM:192430
HP:0002088	Abnormal lung morphology	8214	DGCR6	OMIM:192430
HP:0002088	Abnormal lung morphology	54487	DGCR8	OMIM:192430
HP:0002088	Abnormal lung morphology	118924	FRA10AC1	OMIM:620113
HP:0002088	Abnormal lung morphology	3516	RBPJ	ORPHA:974
HP:0002088	Abnormal lung morphology	4851	NOTCH1	ORPHA:974
HP:0002088	Abnormal lung morphology	57572	DOCK6	ORPHA:974
HP:0002088	Abnormal lung morphology	285203	EOGT	ORPHA:974
HP:0002088	Abnormal lung morphology	54567	DLL4	ORPHA:974
HP:0002088	Abnormal lung morphology	633	BGN	OMIM:300989
HP:0002088	Abnormal lung morphology	55181	SMG8	OMIM:619268
HP:0002088	Abnormal lung morphology	3977	LIFR	OMIM:601559
HP:0002088	Abnormal lung morphology	182	JAG1	OMIM:617992
HP:0002088	Abnormal lung morphology	182	JAG1	OMIM:118450
HP:0002088	Abnormal lung morphology	8425	LTBP4	OMIM:613177
HP:0002088	Abnormal lung morphology	84720	PIGO	OMIM:614749
HP:0002088	Abnormal lung morphology	112752	IFT43	OMIM:614099
HP:0002088	Abnormal lung morphology	9652	SKIC3	ORPHA:84064
HP:0002088	Abnormal lung morphology	6499	SKIC2	ORPHA:84064
HP:0002088	Abnormal lung morphology	5500	PPP1CB	OMIM:617506
HP:0002088	Abnormal lung morphology	10157	AASS	ORPHA:2203
HP:0002088	Abnormal lung morphology	4625	MYH7	OMIM:613426
HP:0002088	Abnormal lung morphology	8854	ALDH1A2	OMIM:620025
HP:0002088	Abnormal lung morphology	6210	RPS15A	OMIM:618313
HP:0002088	Abnormal lung morphology	123606	NIPA1	ORPHA:261183
HP:0002088	Abnormal lung morphology	7283	TUBG1	ORPHA:261183
HP:0002088	Abnormal lung morphology	81614	NIPA2	ORPHA:261183
HP:0002088	Abnormal lung morphology	998	CDC42	ORPHA:487796
HP:0002088	Abnormal lung morphology	93	ACVR2B	OMIM:613751
HP:0002088	Abnormal lung morphology	220136	CFAP53	OMIM:614779
HP:0002088	Abnormal lung morphology	118856	MMP21	OMIM:616749
HP:0002088	Abnormal lung morphology	10491	CRTAP	OMIM:610682
HP:0002088	Abnormal lung morphology	2657	GDF1	OMIM:613854
HP:0002088	Abnormal lung morphology	340419	RSPO2	OMIM:618021
HP:0002088	Abnormal lung morphology	51135	IRAK4	ORPHA:70592
HP:0002088	Abnormal lung morphology	25981	DNAH1	ORPHA:244
HP:0002088	Abnormal lung morphology	115948	ODAD3	ORPHA:244
HP:0002088	Abnormal lung morphology	54768	HYDIN	ORPHA:244
HP:0002088	Abnormal lung morphology	352909	DNAAF3	ORPHA:244
HP:0002088	Abnormal lung morphology	27148	STK36	ORPHA:244
HP:0002088	Abnormal lung morphology	51314	NME8	ORPHA:244
HP:0002088	Abnormal lung morphology	92749	DRC1	ORPHA:244
HP:0002088	Abnormal lung morphology	54970	TTC12	ORPHA:244
HP:0002088	Abnormal lung morphology	152110	NEK10	ORPHA:244
HP:0002088	Abnormal lung morphology	8481	OFD1	ORPHA:244
HP:0002088	Abnormal lung morphology	2302	FOXJ1	ORPHA:244
HP:0002088	Abnormal lung morphology	221421	RSPH9	ORPHA:244
HP:0002088	Abnormal lung morphology	85478	CCDC65	ORPHA:244
HP:0002088	Abnormal lung morphology	55036	CCDC40	ORPHA:244
HP:0002088	Abnormal lung morphology	51364	ZMYND10	ORPHA:244
HP:0002088	Abnormal lung morphology	64446	DNAI2	ORPHA:244
HP:0002088	Abnormal lung morphology	6674	SPAG1	ORPHA:244
HP:0002088	Abnormal lung morphology	83544	DNAL1	ORPHA:244
HP:0002088	Abnormal lung morphology	89765	RSPH1	ORPHA:244
HP:0002088	Abnormal lung morphology	83538	ODAD4	ORPHA:244
HP:0002088	Abnormal lung morphology	200373	CFAP221	ORPHA:244
HP:0002088	Abnormal lung morphology	374407	DNAJB13	ORPHA:244
HP:0002088	Abnormal lung morphology	55172	DNAAF2	ORPHA:244
HP:0002088	Abnormal lung morphology	161582	DNAAF4	ORPHA:244
HP:0002088	Abnormal lung morphology	2622	GAS8	ORPHA:244
HP:0002088	Abnormal lung morphology	23639	DNAAF11	ORPHA:244
HP:0002088	Abnormal lung morphology	27019	DNAI1	ORPHA:244
HP:0002088	Abnormal lung morphology	345895	RSPH4A	ORPHA:244
HP:0002088	Abnormal lung morphology	54919	DNAAF5	ORPHA:244
HP:0002088	Abnormal lung morphology	6103	RPGR	ORPHA:244
HP:0002088	Abnormal lung morphology	388389	CCDC103	ORPHA:244
HP:0002088	Abnormal lung morphology	93233	ODAD1	ORPHA:244
HP:0002088	Abnormal lung morphology	55130	ODAD2	ORPHA:244
HP:0002088	Abnormal lung morphology	1767	DNAH5	ORPHA:244
HP:0002088	Abnormal lung morphology	83861	RSPH3	ORPHA:244
HP:0002088	Abnormal lung morphology	345643	MCIDAS	ORPHA:244
HP:0002088	Abnormal lung morphology	56683	CFAP298	ORPHA:244
HP:0002088	Abnormal lung morphology	79925	SPEF2	ORPHA:244
HP:0002088	Abnormal lung morphology	10309	CCNO	ORPHA:244
HP:0002088	Abnormal lung morphology	115399	LRRC56	ORPHA:244
HP:0002088	Abnormal lung morphology	139212	DNAAF6	ORPHA:244
HP:0002088	Abnormal lung morphology	123872	DNAAF1	ORPHA:244
HP:0002088	Abnormal lung morphology	85016	CFAP300	ORPHA:244
HP:0002088	Abnormal lung morphology	339829	CCDC39	ORPHA:244
HP:0002088	Abnormal lung morphology	8701	DNAH11	ORPHA:244
HP:0002088	Abnormal lung morphology	1770	DNAH9	ORPHA:244
HP:0002088	Abnormal lung morphology	246176	GAS2L2	ORPHA:244
HP:0002088	Abnormal lung morphology	10312	TCIRG1	ORPHA:486
HP:0002088	Abnormal lung morphology	1991	ELANE	ORPHA:486
HP:0002088	Abnormal lung morphology	2672	GFI1	ORPHA:486
HP:0002088	Abnormal lung morphology	6729	SRP54	ORPHA:486
HP:0002088	Abnormal lung morphology	81570	CLPB	ORPHA:486
HP:0002088	Abnormal lung morphology	23495	TNFRSF13B	OMIM:609529
HP:0002088	Abnormal lung morphology	1080	CFTR	ORPHA:498359
HP:0002088	Abnormal lung morphology	81704	DOCK8	OMIM:243700
HP:0002088	Abnormal lung morphology	6774	STAT3	OMIM:147060
HP:0002088	Abnormal lung morphology	7037	TFRC	OMIM:616740
HP:0002088	Abnormal lung morphology	60468	BACH2	OMIM:618394
HP:0002088	Abnormal lung morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002088	Abnormal lung morphology	4790	NFKB1	OMIM:616576
HP:0002088	Abnormal lung morphology	841	CASP8	OMIM:607271
HP:0002088	Abnormal lung morphology	5336	PLCG2	OMIM:614878
HP:0002088	Abnormal lung morphology	5336	PLCG2	OMIM:614468
HP:0002088	Abnormal lung morphology	5293	PIK3CD	OMIM:615513
HP:0002088	Abnormal lung morphology	56259	CTNNBL1	OMIM:619846
HP:0002088	Abnormal lung morphology	5294	PIK3CG	OMIM:619802
HP:0002088	Abnormal lung morphology	4683	NBN	ORPHA:647
HP:0002088	Abnormal lung morphology	26123	TCTN3	ORPHA:2753
HP:0002088	Abnormal lung morphology	8565	YARS1	OMIM:619418
HP:0002088	Abnormal lung morphology	7428	VHL	OMIM:193300
HP:0002088	Abnormal lung morphology	25	ABL1	OMIM:617602
HP:0002088	Abnormal lung morphology	2193	FARSA	OMIM:619013
HP:0002088	Abnormal lung morphology	2137	EXTL3	ORPHA:508533
HP:0002088	Abnormal lung morphology	3763	KCNJ6	ORPHA:435628
HP:0002088	Abnormal lung morphology	3763	KCNJ6	OMIM:614098
HP:0002088	Abnormal lung morphology	5351	PLOD1	OMIM:225400
HP:0002088	Abnormal lung morphology	5351	PLOD1	ORPHA:1900
HP:0002088	Abnormal lung morphology	6477	SIAH1	OMIM:619314
HP:0002088	Abnormal lung morphology	11133	KPTN	OMIM:615637
HP:0002088	Abnormal lung morphology	11133	KPTN	ORPHA:397612
HP:0002088	Abnormal lung morphology	81857	MED25	OMIM:616449
HP:0002088	Abnormal lung morphology	81857	MED25	ORPHA:464738
HP:0002088	Abnormal lung morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002088	Abnormal lung morphology	100151683	RNU4ATAC	OMIM:616651
HP:0002088	Abnormal lung morphology	755	CFAP410	OMIM:602271
HP:0002088	Abnormal lung morphology	1302	COL11A2	OMIM:215150
HP:0002088	Abnormal lung morphology	4522	MTHFD1	OMIM:617780
HP:0002088	Abnormal lung morphology	9948	WDR1	OMIM:150550
HP:0002088	Abnormal lung morphology	939	CD27	OMIM:615122
HP:0002088	Abnormal lung morphology	3417	IDH1	ORPHA:99646
HP:0002088	Abnormal lung morphology	6904	TBCD	ORPHA:496641
HP:0002088	Abnormal lung morphology	7084	TK2	ORPHA:254875
HP:0002088	Abnormal lung morphology	8792	TNFRSF11A	OMIM:612301
HP:0002088	Abnormal lung morphology	10095	ARPC1B	OMIM:617718
HP:0002088	Abnormal lung morphology	54681	P4HTM	OMIM:618493
HP:0002088	Abnormal lung morphology	23594	ORC6	OMIM:613803
HP:0002088	Abnormal lung morphology	2328	FMO3	OMIM:602079
HP:0002088	Abnormal lung morphology	718	C3	OMIM:613779
HP:0002088	Abnormal lung morphology	4796	TONSL	ORPHA:93357
HP:0002088	Abnormal lung morphology	5317	PKP1	ORPHA:158668
HP:0002088	Abnormal lung morphology	54941	RNF125	OMIM:616260
HP:0002088	Abnormal lung morphology	5879	RAC1	OMIM:617751
HP:0002088	Abnormal lung morphology	5879	RAC1	ORPHA:500159
HP:0002088	Abnormal lung morphology	6603	SMARCD2	OMIM:617475
HP:0002088	Abnormal lung morphology	10747	MASP2	OMIM:613791
HP:0002088	Abnormal lung morphology	27040	LAT	OMIM:617514
HP:0002088	Abnormal lung morphology	284119	CAVIN1	OMIM:613327
HP:0002088	Abnormal lung morphology	871	SERPINH1	OMIM:613848
HP:0002088	Abnormal lung morphology	55294	FBXW7	OMIM:620012
HP:0002088	Abnormal lung morphology	28956	LAMTOR2	OMIM:610798
HP:0002088	Abnormal lung morphology	28956	LAMTOR2	ORPHA:90023
HP:0002088	Abnormal lung morphology	404672	GTF2H5	ORPHA:33364
HP:0002088	Abnormal lung morphology	833	CARS1	ORPHA:33364
HP:0002088	Abnormal lung morphology	2068	ERCC2	ORPHA:33364
HP:0002088	Abnormal lung morphology	7737	RNF113A	ORPHA:33364
HP:0002088	Abnormal lung morphology	136647	MPLKIP	ORPHA:33364
HP:0002088	Abnormal lung morphology	6897	TARS1	ORPHA:33364
HP:0002088	Abnormal lung morphology	2071	ERCC3	ORPHA:33364
HP:0002088	Abnormal lung morphology	2961	GTF2E2	ORPHA:33364
HP:0002088	Abnormal lung morphology	94	ACVRL1	OMIM:600376
HP:0002088	Abnormal lung morphology	55112	DYNC2I1	ORPHA:474
HP:0002088	Abnormal lung morphology	26160	IFT172	ORPHA:474
HP:0002088	Abnormal lung morphology	153241	CEP120	ORPHA:474
HP:0002088	Abnormal lung morphology	57560	IFT80	ORPHA:474
HP:0002088	Abnormal lung morphology	51626	DYNC2LI1	ORPHA:474
HP:0002088	Abnormal lung morphology	51626	DYNC2LI1	ORPHA:289
HP:0002088	Abnormal lung morphology	79659	DYNC2H1	ORPHA:474
HP:0002088	Abnormal lung morphology	9742	IFT140	ORPHA:474
HP:0002088	Abnormal lung morphology	57728	WDR19	ORPHA:474
HP:0002088	Abnormal lung morphology	89891	DYNC2I2	ORPHA:474
HP:0002088	Abnormal lung morphology	79809	TTC21B	ORPHA:474
HP:0002088	Abnormal lung morphology	64840	PORCN	ORPHA:2092
HP:0002088	Abnormal lung morphology	59341	TRPV4	ORPHA:2635
HP:0002088	Abnormal lung morphology	2261	FGFR3	ORPHA:1860
HP:0002088	Abnormal lung morphology	2261	FGFR3	ORPHA:93274
HP:0002088	Abnormal lung morphology	2317	FLNB	ORPHA:1263
HP:0002088	Abnormal lung morphology	1836	SLC26A2	ORPHA:93298
HP:0002088	Abnormal lung morphology	9321	TRIP11	ORPHA:93299
HP:0002088	Abnormal lung morphology	1131	CHRM3	ORPHA:2970
HP:0002088	Abnormal lung morphology	7473	WNT3	ORPHA:3301
HP:0002088	Abnormal lung morphology	3239	HOXD13	ORPHA:887
HP:0002088	Abnormal lung morphology	5566	PRKACA	ORPHA:289
HP:0002088	Abnormal lung morphology	5567	PRKACB	ORPHA:289
HP:0002088	Abnormal lung morphology	2735	GLI1	ORPHA:289
HP:0002088	Abnormal lung morphology	2121	EVC	ORPHA:289
HP:0002088	Abnormal lung morphology	132884	EVC2	ORPHA:289
HP:0002088	Abnormal lung morphology	10815	CPLX1	ORPHA:280
HP:0002088	Abnormal lung morphology	54872	PIGG	ORPHA:280
HP:0002088	Abnormal lung morphology	7469	NELFA	ORPHA:280
HP:0002088	Abnormal lung morphology	1487	CTBP1	ORPHA:280
HP:0002088	Abnormal lung morphology	3954	LETM1	ORPHA:280
HP:0002088	Abnormal lung morphology	7468	NSD2	ORPHA:280
HP:0002088	Abnormal lung morphology	126792	B3GALT6	ORPHA:2725
HP:0002088	Abnormal lung morphology	199857	ALG14	OMIM:619036
HP:0002088	Abnormal lung morphology	2050	EPHB4	OMIM:617300
HP:0002088	Abnormal lung morphology	2050	EPHB4	ORPHA:137667
HP:0002088	Abnormal lung morphology	2303	FOXC2	OMIM:153400
HP:0002088	Abnormal lung morphology	9780	PIEZO1	OMIM:616843
HP:0002088	Abnormal lung morphology	867	CBL	OMIM:613563
HP:0002088	Abnormal lung morphology	3832	KIF11	ORPHA:2526
HP:0002088	Abnormal lung morphology	9508	ADAMTS3	ORPHA:2136
HP:0002088	Abnormal lung morphology	147372	CCBE1	ORPHA:2136
HP:0002088	Abnormal lung morphology	79633	FAT4	ORPHA:2136
HP:0002088	Abnormal lung morphology	5921	RASA1	ORPHA:137667
HP:0002088	Abnormal lung morphology	7248	TSC1	ORPHA:538
HP:0002088	Abnormal lung morphology	7249	TSC2	ORPHA:538
HP:0002088	Abnormal lung morphology	56244	BTNL2	ORPHA:797
HP:0002088	Abnormal lung morphology	3123	HLA-DRB1	ORPHA:797
HP:0002088	Abnormal lung morphology	5604	MAP2K1	OMIM:163950
HP:0002088	Abnormal lung morphology	5781	PTPN11	OMIM:163950
HP:0002088	Abnormal lung morphology	673	BRAF	OMIM:163950
HP:0002088	Abnormal lung morphology	1718	DHCR24	ORPHA:35107
HP:0002088	Abnormal lung morphology	6910	TBX5	ORPHA:392
HP:0002088	Abnormal lung morphology	10370	CITED2	OMIM:614433
HP:0002088	Abnormal lung morphology	10370	CITED2	ORPHA:99105
HP:0002088	Abnormal lung morphology	27125	AFF4	OMIM:616368
HP:0002088	Abnormal lung morphology	134701	RIPPLY2	ORPHA:2311
HP:0002088	Abnormal lung morphology	10683	DLL3	ORPHA:2311
HP:0002088	Abnormal lung morphology	3955	LFNG	ORPHA:2311
HP:0002088	Abnormal lung morphology	84667	HES7	ORPHA:2311
HP:0002088	Abnormal lung morphology	145873	MESP2	ORPHA:2311
HP:0002088	Abnormal lung morphology	745	MYRF	OMIM:618280
HP:0002088	Abnormal lung morphology	8243	SMC1A	OMIM:301044
HP:0002088	Abnormal lung morphology	54916	TMEM260	OMIM:617478
HP:0002088	Abnormal lung morphology	4087	SMAD2	OMIM:619657
HP:0002088	Abnormal lung morphology	100128908	CIROP	OMIM:619702
HP:0002088	Abnormal lung morphology	4838	NODAL	OMIM:270100
HP:0002088	Abnormal lung morphology	54499	TMCO1	OMIM:213980
HP:0002088	Abnormal lung morphology	51816	ADA2	OMIM:615688
HP:0002088	Abnormal lung morphology	8382	NME5	OMIM:620032
HP:0002088	Abnormal lung morphology	1290	COL5A2	OMIM:130010
HP:0002088	Abnormal lung morphology	10625	IVNS1ABP	OMIM:618969
HP:0002088	Abnormal lung morphology	4194	MDM4	OMIM:618849
HP:0002088	Abnormal lung morphology	721	C4B	OMIM:614379
HP:0002088	Abnormal lung morphology	137814	NKX2-6	ORPHA:3384
HP:0002088	Abnormal lung morphology	23129	PLXND1	ORPHA:3384
HP:0002088	Abnormal lung morphology	7547	ZIC3	OMIM:306955
HP:0002088	Abnormal lung morphology	1147	CHUK	OMIM:613630
HP:0002088	Abnormal lung morphology	9094	UNC119	OMIM:615518
HP:0002088	Abnormal lung morphology	695	BTK	OMIM:300755
HP:0002088	Abnormal lung morphology	56160	NSMCE3	OMIM:617241
HP:0002088	Abnormal lung morphology	6340	SCNN1G	ORPHA:60033
HP:0002088	Abnormal lung morphology	6337	SCNN1A	ORPHA:60033
HP:0002088	Abnormal lung morphology	6338	SCNN1B	ORPHA:60033
HP:0002088	Abnormal lung morphology	5913	RAPSN	OMIM:616326
HP:0002088	Abnormal lung morphology	1387	CREBBP	OMIM:180849
HP:0002088	Abnormal lung morphology	2033	EP300	OMIM:180849
HP:0002088	Abnormal lung morphology	1503	CTPS1	OMIM:615897
HP:0002088	Abnormal lung morphology	5194	PEX13	OMIM:614885
HP:0002088	Abnormal lung morphology	3458	IFNG	ORPHA:805
HP:0002088	Abnormal lung morphology	3098	HK1	OMIM:618547
HP:0002088	Abnormal lung morphology	7174	TPP2	ORPHA:444463
HP:0002088	Abnormal lung morphology	7852	CXCR4	ORPHA:51636
HP:0002088	Abnormal lung morphology	2934	GSN	ORPHA:85448
HP:0002088	Abnormal lung morphology	6809	STX3	OMIM:619445
HP:0002088	Abnormal lung morphology	1794	DOCK2	OMIM:616433
HP:0002088	Abnormal lung morphology	1896	EDA	OMIM:313500
HP:0002088	Abnormal lung morphology	4654	MYOD1	OMIM:618975
HP:0002088	Abnormal lung morphology	9990	SLC12A6	OMIM:218000
HP:0002088	Abnormal lung morphology	4758	NEU1	ORPHA:93400
HP:0002088	Abnormal lung morphology	4868	NPHS1	ORPHA:656
HP:0002088	Abnormal lung morphology	23607	CD2AP	ORPHA:656
HP:0002088	Abnormal lung morphology	9688	NUP93	ORPHA:656
HP:0002088	Abnormal lung morphology	4643	MYO1E	ORPHA:656
HP:0002088	Abnormal lung morphology	64423	INF2	ORPHA:656
HP:0002088	Abnormal lung morphology	26130	GAPVD1	ORPHA:656
HP:0002088	Abnormal lung morphology	57122	NUP107	ORPHA:656
HP:0002088	Abnormal lung morphology	51479	ANKFY1	ORPHA:656
HP:0002088	Abnormal lung morphology	54443	ANLN	ORPHA:656
HP:0002088	Abnormal lung morphology	5800	PTPRO	ORPHA:656
HP:0002088	Abnormal lung morphology	286204	CRB2	ORPHA:656
HP:0002088	Abnormal lung morphology	23165	NUP205	ORPHA:656
HP:0002088	Abnormal lung morphology	2013	EMP2	ORPHA:656
HP:0002088	Abnormal lung morphology	79023	NUP37	ORPHA:656
HP:0002088	Abnormal lung morphology	51196	PLCE1	ORPHA:656
HP:0002088	Abnormal lung morphology	79902	NUP85	ORPHA:656
HP:0002088	Abnormal lung morphology	1285	COL4A3	ORPHA:656
HP:0002088	Abnormal lung morphology	396	ARHGDIA	ORPHA:656
HP:0002088	Abnormal lung morphology	79934	COQ8B	ORPHA:656
HP:0002088	Abnormal lung morphology	23279	NUP160	ORPHA:656
HP:0002088	Abnormal lung morphology	9863	MAGI2	ORPHA:656
HP:0002088	Abnormal lung morphology	7225	TRPC6	ORPHA:656
HP:0002088	Abnormal lung morphology	8542	APOL1	ORPHA:656
HP:0002088	Abnormal lung morphology	54885	TBC1D8B	ORPHA:656
HP:0002088	Abnormal lung morphology	7827	NPHS2	ORPHA:656
HP:0002088	Abnormal lung morphology	83478	ARHGAP24	ORPHA:656
HP:0002088	Abnormal lung morphology	23500	DAAM2	ORPHA:656
HP:0002088	Abnormal lung morphology	5076	PAX2	ORPHA:656
HP:0002088	Abnormal lung morphology	55746	NUP133	ORPHA:656
HP:0002088	Abnormal lung morphology	65055	REEP1	OMIM:620011
HP:0002088	Abnormal lung morphology	1438	CSF2RA	ORPHA:264675
HP:0002088	Abnormal lung morphology	55343	SLC35C1	OMIM:266265
HP:0002088	Abnormal lung morphology	5339	PLEC	ORPHA:254361
HP:0002088	Abnormal lung morphology	10806	SDCCAG8	OMIM:615993
HP:0002088	Abnormal lung morphology	5832	ALDH18A1	ORPHA:90348
HP:0002088	Abnormal lung morphology	6890	TAP1	OMIM:604571
HP:0002088	Abnormal lung morphology	6891	TAP2	OMIM:604571
HP:0002088	Abnormal lung morphology	6892	TAPBP	OMIM:604571
HP:0002088	Abnormal lung morphology	5373	PMM2	ORPHA:79318
HP:0002088	Abnormal lung morphology	9342	SNAP29	OMIM:609528
HP:0002088	Abnormal lung morphology	55791	LRIF1	OMIM:619477
HP:0002088	Abnormal lung morphology	54809	SAMD9	OMIM:617053
HP:0002088	Abnormal lung morphology	55037	PTCD3	OMIM:619057
HP:0002088	Abnormal lung morphology	2260	FGFR1	ORPHA:220386
HP:0002088	Abnormal lung morphology	2260	FGFR1	ORPHA:93924
HP:0002088	Abnormal lung morphology	28514	DLL1	ORPHA:220386
HP:0002088	Abnormal lung morphology	28514	DLL1	ORPHA:93926
HP:0002088	Abnormal lung morphology	28514	DLL1	ORPHA:93924
HP:0002088	Abnormal lung morphology	28514	DLL1	ORPHA:93925
HP:0002088	Abnormal lung morphology	10735	STAG2	ORPHA:220386
HP:0002088	Abnormal lung morphology	10735	STAG2	ORPHA:93925
HP:0002088	Abnormal lung morphology	2253	FGF8	ORPHA:220386
HP:0002088	Abnormal lung morphology	2253	FGF8	ORPHA:93926
HP:0002088	Abnormal lung morphology	2253	FGF8	ORPHA:93924
HP:0002088	Abnormal lung morphology	2253	FGF8	ORPHA:93925
HP:0002088	Abnormal lung morphology	6496	SIX3	ORPHA:220386
HP:0002088	Abnormal lung morphology	6496	SIX3	ORPHA:93926
HP:0002088	Abnormal lung morphology	6496	SIX3	ORPHA:93924
HP:0002088	Abnormal lung morphology	6496	SIX3	ORPHA:93925
HP:0002088	Abnormal lung morphology	7050	TGIF1	ORPHA:220386
HP:0002088	Abnormal lung morphology	7050	TGIF1	ORPHA:93926
HP:0002088	Abnormal lung morphology	7050	TGIF1	ORPHA:93924
HP:0002088	Abnormal lung morphology	7050	TGIF1	ORPHA:93925
HP:0002088	Abnormal lung morphology	6469	SHH	ORPHA:220386
HP:0002088	Abnormal lung morphology	6469	SHH	ORPHA:93926
HP:0002088	Abnormal lung morphology	6469	SHH	ORPHA:93924
HP:0002088	Abnormal lung morphology	6469	SHH	ORPHA:93925
HP:0002088	Abnormal lung morphology	7546	ZIC2	ORPHA:220386
HP:0002088	Abnormal lung morphology	7546	ZIC2	ORPHA:93926
HP:0002088	Abnormal lung morphology	7546	ZIC2	ORPHA:93924
HP:0002088	Abnormal lung morphology	7546	ZIC2	ORPHA:93925
HP:0002088	Abnormal lung morphology	6491	STIL	ORPHA:220386
HP:0002088	Abnormal lung morphology	6491	STIL	ORPHA:93926
HP:0002088	Abnormal lung morphology	6491	STIL	ORPHA:93924
HP:0002088	Abnormal lung morphology	6491	STIL	ORPHA:93925
HP:0002088	Abnormal lung morphology	2619	GAS1	ORPHA:220386
HP:0002088	Abnormal lung morphology	2619	GAS1	ORPHA:93926
HP:0002088	Abnormal lung morphology	2619	GAS1	ORPHA:93924
HP:0002088	Abnormal lung morphology	2619	GAS1	ORPHA:93925
HP:0002088	Abnormal lung morphology	84976	DISP1	ORPHA:220386
HP:0002088	Abnormal lung morphology	84976	DISP1	ORPHA:93926
HP:0002088	Abnormal lung morphology	84976	DISP1	ORPHA:93924
HP:0002088	Abnormal lung morphology	84976	DISP1	ORPHA:93925
HP:0002088	Abnormal lung morphology	2736	GLI2	ORPHA:220386
HP:0002088	Abnormal lung morphology	2736	GLI2	ORPHA:93926
HP:0002088	Abnormal lung morphology	2736	GLI2	ORPHA:93924
HP:0002088	Abnormal lung morphology	2736	GLI2	ORPHA:93925
HP:0002088	Abnormal lung morphology	8928	FOXH1	ORPHA:220386
HP:0002088	Abnormal lung morphology	8928	FOXH1	ORPHA:93926
HP:0002088	Abnormal lung morphology	8928	FOXH1	ORPHA:93924
HP:0002088	Abnormal lung morphology	8928	FOXH1	ORPHA:93925
HP:0002088	Abnormal lung morphology	5727	PTCH1	ORPHA:220386
HP:0002088	Abnormal lung morphology	5727	PTCH1	ORPHA:93926
HP:0002088	Abnormal lung morphology	5727	PTCH1	ORPHA:93924
HP:0002088	Abnormal lung morphology	5727	PTCH1	ORPHA:93925
HP:0002088	Abnormal lung morphology	50937	CDON	ORPHA:220386
HP:0002088	Abnormal lung morphology	50937	CDON	ORPHA:93926
HP:0002088	Abnormal lung morphology	50937	CDON	ORPHA:93924
HP:0002088	Abnormal lung morphology	50937	CDON	ORPHA:93925
HP:0002088	Abnormal lung morphology	6597	SMARCA4	ORPHA:1465
HP:0002088	Abnormal lung morphology	6598	SMARCB1	ORPHA:1465
HP:0002088	Abnormal lung morphology	6659	SOX4	ORPHA:1465
HP:0002088	Abnormal lung morphology	8289	ARID1A	ORPHA:1465
HP:0002088	Abnormal lung morphology	5977	DPF2	ORPHA:1465
HP:0002088	Abnormal lung morphology	6601	SMARCC2	ORPHA:1465
HP:0002088	Abnormal lung morphology	6602	SMARCD1	ORPHA:1465
HP:0002088	Abnormal lung morphology	57492	ARID1B	ORPHA:1465
HP:0002088	Abnormal lung morphology	196528	ARID2	ORPHA:1465
HP:0002088	Abnormal lung morphology	6605	SMARCE1	ORPHA:1465
HP:0002088	Abnormal lung morphology	6664	SOX11	ORPHA:1465
HP:0002088	Abnormal lung morphology	133686	NADK2	ORPHA:431361
HP:0002088	Abnormal lung morphology	8398	PLA2G6	ORPHA:35069
HP:0002088	Abnormal lung morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002088	Abnormal lung morphology	6872	TAF1	ORPHA:53351
HP:0002088	Abnormal lung morphology	526	ATP6V1B2	ORPHA:79500
HP:0002088	Abnormal lung morphology	57465	TBC1D24	ORPHA:79500
HP:0002088	Abnormal lung morphology	9896	FIG4	OMIM:216340
HP:0002088	Abnormal lung morphology	7314	UBB	ORPHA:99772
HP:0002088	Abnormal lung morphology	57822	GRHL3	ORPHA:99772
HP:0002088	Abnormal lung morphology	1678	TIMM8A	ORPHA:52368
HP:0002088	Abnormal lung morphology	283446	MYO1H	OMIM:619482
HP:0002088	Abnormal lung morphology	57190	SELENON	ORPHA:2020
HP:0002088	Abnormal lung morphology	58	ACTA1	ORPHA:2020
HP:0002088	Abnormal lung morphology	4633	MYL2	ORPHA:2020
HP:0002088	Abnormal lung morphology	3679	ITGA7	ORPHA:2020
HP:0002088	Abnormal lung morphology	7169	TPM2	ORPHA:2020
HP:0002088	Abnormal lung morphology	9200	HACD1	ORPHA:2020
HP:0002088	Abnormal lung morphology	7170	TPM3	ORPHA:2020
HP:0002088	Abnormal lung morphology	51776	MAP3K20	ORPHA:2020
HP:0002088	Abnormal lung morphology	80025	PANK2	ORPHA:216866
HP:0002088	Abnormal lung morphology	92935	MARS2	OMIM:616430
HP:0002088	Abnormal lung morphology	4700	NDUFA6	OMIM:618253
HP:0002088	Abnormal lung morphology	6392	SDHD	OMIM:619167
HP:0002088	Abnormal lung morphology	10342	TFG	ORPHA:90117
HP:0002088	Abnormal lung morphology	23007	PLCH1	ORPHA:93925
HP:0002088	Abnormal lung morphology	5277	PIGA	OMIM:301072
HP:0002088	Abnormal lung morphology	2720	GLB1	ORPHA:79255
HP:0002088	Abnormal lung morphology	4001	LMNB1	ORPHA:99027
HP:0002088	Abnormal lung morphology	5813	PURA	ORPHA:314655
HP:0002088	Abnormal lung morphology	1288	COL4A6	ORPHA:1018
HP:0002088	Abnormal lung morphology	1287	COL4A5	ORPHA:1018
HP:0002088	Abnormal lung morphology	2131	EXT1	ORPHA:321
HP:0002088	Abnormal lung morphology	2132	EXT2	ORPHA:321
HP:0002088	Abnormal lung morphology	1281	COL3A1	OMIM:130050
HP:0002088	Abnormal lung morphology	5345	SERPINF2	ORPHA:79
HP:0002088	Abnormal lung morphology	5345	SERPINF2	OMIM:262850
HP:0002088	Abnormal lung morphology	2022	ENG	OMIM:187300
HP:0002088	Abnormal lung morphology	6850	SYK	OMIM:619381
HP:0002088	Abnormal lung morphology	641	BLM	ORPHA:125
HP:0002088	Abnormal lung morphology	775	CACNA1C	OMIM:601005
HP:0002088	Abnormal lung morphology	165918	RNF168	ORPHA:420741
HP:0002088	Abnormal lung morphology	3514	IGKC	ORPHA:183675
HP:0002088	Abnormal lung morphology	3501	IGHG2	ORPHA:183675
HP:0002088	Abnormal lung morphology	5371	PML	ORPHA:520
HP:0002088	Abnormal lung morphology	5914	RARA	ORPHA:520
HP:0002088	Abnormal lung morphology	81608	FIP1L1	ORPHA:520
HP:0002088	Abnormal lung morphology	54880	BCOR	ORPHA:520
HP:0002088	Abnormal lung morphology	64859	NABP1	ORPHA:520
HP:0002088	Abnormal lung morphology	6777	STAT5B	ORPHA:520
HP:0002088	Abnormal lung morphology	4926	NUMA1	ORPHA:520
HP:0002088	Abnormal lung morphology	7704	ZBTB16	ORPHA:520
HP:0002088	Abnormal lung morphology	79718	TBL1XR1	ORPHA:520
HP:0002088	Abnormal lung morphology	58484	NLRC4	OMIM:616050
HP:0002088	Abnormal lung morphology	7157	TP53	OMIM:151623
HP:0002088	Abnormal lung morphology	7157	TP53	ORPHA:1501
HP:0002088	Abnormal lung morphology	137682	NDUFAF6	OMIM:618913
HP:0002088	Abnormal lung morphology	8314	BAP1	OMIM:614327
HP:0002088	Abnormal lung morphology	5071	PRKN	OMIM:211980
HP:0002088	Abnormal lung morphology	3845	KRAS	OMIM:211980
HP:0002088	Abnormal lung morphology	3659	IRF1	OMIM:211980
HP:0002088	Abnormal lung morphology	5002	SLC22A18	OMIM:211980
HP:0002088	Abnormal lung morphology	2074	ERCC6	OMIM:211980
HP:0002088	Abnormal lung morphology	5290	PIK3CA	OMIM:211980
HP:0002088	Abnormal lung morphology	1956	EGFR	OMIM:211980
HP:0002088	Abnormal lung morphology	1548	CYP2A6	OMIM:211980
HP:0002088	Abnormal lung morphology	2064	ERBB2	OMIM:211980
HP:0002088	Abnormal lung morphology	356	FASLG	OMIM:211980
HP:0002088	Abnormal lung morphology	5519	PPP2R1B	OMIM:211980
HP:0002088	Abnormal lung morphology	1326	MAP3K8	OMIM:211980
HP:0002088	Abnormal lung morphology	84133	ZNRF3	ORPHA:1501
HP:0002088	Abnormal lung morphology	5573	PRKAR1A	ORPHA:1501
HP:0002088	Abnormal lung morphology	1499	CTNNB1	ORPHA:1501
HP:0002088	Abnormal lung morphology	1029	CDKN2A	ORPHA:1501
HP:0002088	Abnormal lung morphology	64324	NSD1	ORPHA:821
HP:0002088	Abnormal lung morphology	29072	SETD2	ORPHA:821
HP:0002088	Abnormal lung morphology	10297	APC2	ORPHA:821
HP:0002088	Abnormal lung morphology	161742	SPRED1	ORPHA:137605
HP:0002088	Abnormal lung morphology	6439	SFTPB	OMIM:265120
HP:0002088	Abnormal lung morphology	659	BMPR2	OMIM:265450
HP:0002088	Abnormal lung morphology	440275	EIF2AK4	ORPHA:199241
HP:0002088	Abnormal lung morphology	1439	CSF2RB	OMIM:614370
HP:0002088	Abnormal lung morphology	29969	MDFIC	OMIM:620014
HP:0002088	Abnormal lung morphology	10568	SLC34A2	ORPHA:60025
HP:0002088	Abnormal lung morphology	29775	CARD10	OMIM:619632
HP:0002088	Abnormal lung morphology	7015	TERT	OMIM:614742
HP:0002088	Abnormal lung morphology	7015	TERT	OMIM:178500
HP:0002088	Abnormal lung morphology	51750	RTEL1	OMIM:616373
HP:0002088	Abnormal lung morphology	727897	MUC5B	OMIM:178500
HP:0002088	Abnormal lung morphology	729238	SFTPA2	OMIM:178500
HP:0002088	Abnormal lung morphology	21	ABCA3	OMIM:610921
HP:0002088	Abnormal lung morphology	653509	SFTPA1	OMIM:619611
HP:0002088	Abnormal lung morphology	5297	PI4KA	OMIM:619708
HP:0002088	Abnormal lung morphology	5265	SERPINA1	OMIM:613490
HP:0002088	Abnormal lung morphology	7080	NKX2-1	OMIM:610978
HP:0002088	Abnormal lung morphology	4791	NFKB2	OMIM:615577
HP:0002088	Abnormal lung morphology	2214	FCGR3A	OMIM:615707
HP:0002088	Abnormal lung morphology	57545	CC2D2A	OMIM:612284
HP:0002088	Abnormal lung morphology	2294	FOXF1	OMIM:265380
HP:0002088	Abnormal lung morphology	64220	STRA6	OMIM:601186
HP:0002088	Abnormal lung morphology	7490	WT1	OMIM:608978
HP:0002088	Abnormal lung morphology	64135	IFIH1	OMIM:619773
HP:0002088	Abnormal lung morphology	4212	MEIS2	OMIM:600987
HP:0002088	Abnormal lung morphology	6440	SFTPC	OMIM:610913
HP:0002088	Abnormal lung morphology	60558	GUF1	OMIM:617065
HP:0002088	Abnormal lung morphology	3559	IL2RA	OMIM:606367
HP:0002088	Abnormal lung morphology	1314	COPA	OMIM:616414
HP:0002088	Abnormal lung morphology	9056	SLC7A7	OMIM:222700
HP:0002088	Abnormal lung morphology	10559	SLC35A1	ORPHA:238459
HP:0002088	Abnormal lung morphology	10559	SLC35A1	OMIM:603585
HP:0002088	Abnormal lung morphology	10664	CTCF	ORPHA:363611
HP:0002088	Abnormal lung morphology	57169	ZNFX1	OMIM:619644
HP:0002088	Abnormal lung morphology	23149	FCHO1	OMIM:619164
HP:0002088	Abnormal lung morphology	4854	NOTCH3	ORPHA:2591
HP:0002088	Abnormal lung morphology	5159	PDGFRB	ORPHA:2591
HP:0002088	Abnormal lung morphology	25913	POT1	OMIM:616568
HP:0002088	Abnormal lung morphology	3248	HPGD	ORPHA:2796
HP:0002088	Abnormal lung morphology	6578	SLCO2A1	ORPHA:2796
HP:0002088	Abnormal lung morphology	7373	COL14A1	ORPHA:79501
HP:0002088	Abnormal lung morphology	79719	AAGAB	ORPHA:79501
HP:0002088	Abnormal lung morphology	4193	MDM2	ORPHA:524
HP:0002088	Abnormal lung morphology	11200	CHEK2	ORPHA:524
HP:0002088	Abnormal lung morphology	2130	EWSR1	ORPHA:83469
HP:0002088	Abnormal lung morphology	5925	RB1	OMIM:182280
HP:0002088	Abnormal lung morphology	65998	ZFTA	ORPHA:251636
HP:0002088	Abnormal lung morphology	5970	RELA	ORPHA:251636
HP:0002088	Abnormal lung morphology	6794	STK11	ORPHA:2869
HP:0002088	Abnormal lung morphology	162514	TRPV3	ORPHA:659
HP:0002088	Abnormal lung morphology	64065	PERP	ORPHA:659
HP:0002088	Abnormal lung morphology	5978	REST	ORPHA:654
HP:0002088	Abnormal lung morphology	129563	DIS3L2	ORPHA:654
HP:0002088	Abnormal lung morphology	675	BRCA2	ORPHA:654
HP:0002088	Abnormal lung morphology	10155	TRIM28	ORPHA:654
HP:0002088	Abnormal lung morphology	11281	POU6F2	ORPHA:654
HP:0002088	Abnormal lung morphology	283120	H19	ORPHA:654
HP:0002088	Abnormal lung morphology	4665	NAB2	ORPHA:2126
HP:0002088	Abnormal lung morphology	6778	STAT6	ORPHA:2126
HP:0002088	Abnormal lung morphology	23405	DICER1	OMIM:601200
HP:0002088	Abnormal lung morphology	23405	DICER1	OMIM:180295
HP:0002088	Abnormal lung morphology	23405	DICER1	ORPHA:276399
HP:0002088	Abnormal lung morphology	9817	KEAP1	ORPHA:276399
HP:0002088	Abnormal lung morphology	10128	LRPPRC	OMIM:220111
HP:0002088	Abnormal lung morphology	4607	MYBPC3	OMIM:115197
HP:0002088	Abnormal lung morphology	54914	FOCAD	OMIM:619991
HP:0002088	Abnormal lung morphology	4519	MT-CYB	ORPHA:137675
HP:0002088	Abnormal lung morphology	84665	MYPN	ORPHA:75249
HP:0002088	Abnormal lung morphology	2318	FLNC	ORPHA:75249
HP:0002088	Abnormal lung morphology	7139	TNNT2	ORPHA:75249
HP:0002088	Abnormal lung morphology	7137	TNNI3	ORPHA:75249
HP:0002088	Abnormal lung morphology	10112	KIF20A	ORPHA:75249
HP:0002088	Abnormal lung morphology	7276	TTR	OMIM:105210
HP:0002088	Abnormal lung morphology	7841	MOGS	ORPHA:79330
HP:0002088	Abnormal lung morphology	1523	CUX1	OMIM:618330
HP:0002088	Abnormal lung morphology	55315	SLC29A3	ORPHA:168569
HP:0002088	Abnormal lung morphology	4247	MGAT2	ORPHA:79329
HP:0002088	Abnormal lung morphology	7374	UNG	OMIM:608106
HP:0002089	Pulmonary hypoplasia	2261	FGFR3	OMIM:187600
HP:0002089	Pulmonary hypoplasia	2261	FGFR3	OMIM:100800
HP:0002089	Pulmonary hypoplasia	137814	NKX2-6	ORPHA:3384
HP:0002089	Pulmonary hypoplasia	23129	PLXND1	ORPHA:3384
HP:0002089	Pulmonary hypoplasia	341640	FREM2	ORPHA:2052
HP:0002089	Pulmonary hypoplasia	80144	FRAS1	ORPHA:2052
HP:0002089	Pulmonary hypoplasia	80144	FRAS1	OMIM:219000
HP:0002089	Pulmonary hypoplasia	23426	GRIP1	ORPHA:2052
HP:0002089	Pulmonary hypoplasia	28981	IFT81	OMIM:617895
HP:0002089	Pulmonary hypoplasia	4750	NEK1	OMIM:263520
HP:0002089	Pulmonary hypoplasia	8425	LTBP4	OMIM:613177
HP:0002089	Pulmonary hypoplasia	23556	PIGN	ORPHA:2059
HP:0002089	Pulmonary hypoplasia	23556	PIGN	OMIM:614080
HP:0002089	Pulmonary hypoplasia	2733	GLE1	ORPHA:1486
HP:0002089	Pulmonary hypoplasia	2733	GLE1	OMIM:253310
HP:0002089	Pulmonary hypoplasia	79848	CSPP1	OMIM:615636
HP:0002089	Pulmonary hypoplasia	5396	PRRX1	OMIM:202650
HP:0002089	Pulmonary hypoplasia	8195	MKKS	OMIM:236700
HP:0002089	Pulmonary hypoplasia	8854	ALDH1A2	OMIM:620025
HP:0002089	Pulmonary hypoplasia	10992	SF3B2	OMIM:164210
HP:0002089	Pulmonary hypoplasia	64220	STRA6	OMIM:601186
HP:0002089	Pulmonary hypoplasia	64220	STRA6	ORPHA:2470
HP:0002089	Pulmonary hypoplasia	2629	GBA1	OMIM:608013
HP:0002089	Pulmonary hypoplasia	81839	VANGL1	ORPHA:3027
HP:0002089	Pulmonary hypoplasia	80199	FUZ	ORPHA:3027
HP:0002089	Pulmonary hypoplasia	1836	SLC26A2	ORPHA:56304
HP:0002089	Pulmonary hypoplasia	1836	SLC26A2	OMIM:256050
HP:0002089	Pulmonary hypoplasia	183	AGT	OMIM:267430
HP:0002089	Pulmonary hypoplasia	5972	REN	OMIM:267430
HP:0002089	Pulmonary hypoplasia	185	AGTR1	OMIM:267430
HP:0002089	Pulmonary hypoplasia	1636	ACE	OMIM:267430
HP:0002089	Pulmonary hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0002089	Pulmonary hypoplasia	55112	DYNC2I1	OMIM:615503
HP:0002089	Pulmonary hypoplasia	57560	IFT80	ORPHA:93271
HP:0002089	Pulmonary hypoplasia	57539	WDR35	ORPHA:93271
HP:0002089	Pulmonary hypoplasia	57539	WDR35	OMIM:614091
HP:0002089	Pulmonary hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0002089	Pulmonary hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0002089	Pulmonary hypoplasia	91754	NEK9	OMIM:617022
HP:0002089	Pulmonary hypoplasia	2317	FLNB	ORPHA:1190
HP:0002089	Pulmonary hypoplasia	58	ACTA1	ORPHA:171430
HP:0002089	Pulmonary hypoplasia	4703	NEB	ORPHA:171430
HP:0002089	Pulmonary hypoplasia	131377	KLHL40	ORPHA:171430
HP:0002089	Pulmonary hypoplasia	10324	KLHL41	ORPHA:171430
HP:0002089	Pulmonary hypoplasia	56203	LMOD3	ORPHA:171430
HP:0002089	Pulmonary hypoplasia	10229	COQ7	OMIM:616733
HP:0002089	Pulmonary hypoplasia	55784	MCTP2	ORPHA:1596
HP:0002089	Pulmonary hypoplasia	5915	RARB	OMIM:615524
HP:0002089	Pulmonary hypoplasia	5915	RARB	ORPHA:2470
HP:0002089	Pulmonary hypoplasia	1717	DHCR7	ORPHA:818
HP:0002089	Pulmonary hypoplasia	1717	DHCR7	OMIM:270400
HP:0002089	Pulmonary hypoplasia	5189	PEX1	OMIM:214100
HP:0002089	Pulmonary hypoplasia	2187	FANCB	ORPHA:3412
HP:0002089	Pulmonary hypoplasia	2187	FANCB	OMIM:314390
HP:0002089	Pulmonary hypoplasia	56975	FAM20C	OMIM:259775
HP:0002089	Pulmonary hypoplasia	1146	CHRNG	OMIM:265000
HP:0002089	Pulmonary hypoplasia	1146	CHRNG	ORPHA:2990
HP:0002089	Pulmonary hypoplasia	1146	CHRNG	OMIM:253290
HP:0002089	Pulmonary hypoplasia	51132	RLIM	OMIM:300978
HP:0002089	Pulmonary hypoplasia	8260	NAA10	OMIM:300855
HP:0002089	Pulmonary hypoplasia	8260	NAA10	OMIM:309800
HP:0002089	Pulmonary hypoplasia	50814	NSDHL	OMIM:308050
HP:0002089	Pulmonary hypoplasia	23522	KAT6B	OMIM:606170
HP:0002089	Pulmonary hypoplasia	23522	KAT6B	ORPHA:85201
HP:0002089	Pulmonary hypoplasia	6261	RYR1	OMIM:255320
HP:0002089	Pulmonary hypoplasia	51008	ASCC1	OMIM:616867
HP:0002089	Pulmonary hypoplasia	57211	ADGRG6	OMIM:616503
HP:0002089	Pulmonary hypoplasia	9325	TRIP4	OMIM:616866
HP:0002089	Pulmonary hypoplasia	284086	NEK8	OMIM:615415
HP:0002089	Pulmonary hypoplasia	3339	HSPG2	ORPHA:1865
HP:0002089	Pulmonary hypoplasia	3339	HSPG2	OMIM:224410
HP:0002089	Pulmonary hypoplasia	23414	ZFPM2	ORPHA:2140
HP:0002089	Pulmonary hypoplasia	9361	LONP1	ORPHA:2140
HP:0002089	Pulmonary hypoplasia	2627	GATA6	ORPHA:2140
HP:0002089	Pulmonary hypoplasia	5745	PTH1R	ORPHA:50945
HP:0002089	Pulmonary hypoplasia	3977	LIFR	OMIM:601559
HP:0002089	Pulmonary hypoplasia	79796	ALG9	OMIM:263210
HP:0002089	Pulmonary hypoplasia	79796	ALG9	ORPHA:79328
HP:0002089	Pulmonary hypoplasia	23384	SPECC1L	OMIM:145420
HP:0002089	Pulmonary hypoplasia	27130	INVS	OMIM:602088
HP:0002089	Pulmonary hypoplasia	26040	SETBP1	ORPHA:798
HP:0002089	Pulmonary hypoplasia	29980	DONSON	OMIM:251230
HP:0002089	Pulmonary hypoplasia	26227	PHGDH	OMIM:256520
HP:0002089	Pulmonary hypoplasia	2316	FLNA	ORPHA:90652
HP:0002089	Pulmonary hypoplasia	4927	NUP88	ORPHA:994
HP:0002089	Pulmonary hypoplasia	7846	TUBA1A	ORPHA:994
HP:0002089	Pulmonary hypoplasia	4654	MYOD1	ORPHA:994
HP:0002089	Pulmonary hypoplasia	4654	MYOD1	OMIM:618975
HP:0002089	Pulmonary hypoplasia	4593	MUSK	ORPHA:994
HP:0002089	Pulmonary hypoplasia	4593	MUSK	OMIM:208150
HP:0002089	Pulmonary hypoplasia	5913	RAPSN	ORPHA:994
HP:0002089	Pulmonary hypoplasia	6572	SLC18A3	ORPHA:994
HP:0002089	Pulmonary hypoplasia	285489	DOK7	ORPHA:994
HP:0002089	Pulmonary hypoplasia	1798	DPAGT1	ORPHA:86309
HP:0002089	Pulmonary hypoplasia	7490	WT1	OMIM:608978
HP:0002089	Pulmonary hypoplasia	1280	COL2A1	OMIM:151210
HP:0002089	Pulmonary hypoplasia	1280	COL2A1	ORPHA:85166
HP:0002089	Pulmonary hypoplasia	1280	COL2A1	ORPHA:93296
HP:0002089	Pulmonary hypoplasia	54880	BCOR	OMIM:309800
HP:0002089	Pulmonary hypoplasia	4629	MYH11	OMIM:619351
HP:0002089	Pulmonary hypoplasia	5314	PKHD1	OMIM:263200
HP:0002089	Pulmonary hypoplasia	5314	PKHD1	ORPHA:731
HP:0002089	Pulmonary hypoplasia	57545	CC2D2A	OMIM:612284
HP:0002089	Pulmonary hypoplasia	29957	SLC25A24	OMIM:612289
HP:0002089	Pulmonary hypoplasia	6608	SMO	OMIM:241800
HP:0002089	Pulmonary hypoplasia	79770	TXNDC15	OMIM:619879
HP:0002089	Pulmonary hypoplasia	5979	RET	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	8516	ITGA8	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	8516	ITGA8	OMIM:191830
HP:0002089	Pulmonary hypoplasia	26281	FGF20	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	26281	FGF20	OMIM:615721
HP:0002089	Pulmonary hypoplasia	2674	GFRA1	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	2674	GFRA1	OMIM:619887
HP:0002089	Pulmonary hypoplasia	7484	WNT9B	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	80000	GREB1L	ORPHA:1848
HP:0002089	Pulmonary hypoplasia	55165	CEP55	OMIM:236500
HP:0002089	Pulmonary hypoplasia	7547	ZIC3	OMIM:314390
HP:0002089	Pulmonary hypoplasia	4716	NDUFB10	OMIM:619003
HP:0002089	Pulmonary hypoplasia	9321	TRIP11	OMIM:184260
HP:0002089	Pulmonary hypoplasia	9321	TRIP11	OMIM:200600
HP:0002089	Pulmonary hypoplasia	8318	CDC45	OMIM:617063
HP:0002089	Pulmonary hypoplasia	5297	PI4KA	OMIM:616531
HP:0002089	Pulmonary hypoplasia	5297	PI4KA	OMIM:619708
HP:0002089	Pulmonary hypoplasia	27031	NPHP3	OMIM:208540
HP:0002089	Pulmonary hypoplasia	27031	NPHP3	ORPHA:3032
HP:0002089	Pulmonary hypoplasia	202018	TAPT1	OMIM:616897
HP:0002089	Pulmonary hypoplasia	163175	LGI4	OMIM:617468
HP:0002089	Pulmonary hypoplasia	9772	TMEM94	OMIM:618316
HP:0002089	Pulmonary hypoplasia	388015	RTL1	ORPHA:96334
HP:0002089	Pulmonary hypoplasia	8788	DLK1	ORPHA:96334
HP:0002089	Pulmonary hypoplasia	55384	MEG3	ORPHA:96334
HP:0002089	Pulmonary hypoplasia	199221	DZIP1L	ORPHA:731
HP:0002089	Pulmonary hypoplasia	8241	RBM10	ORPHA:2886
HP:0002089	Pulmonary hypoplasia	745	MYRF	OMIM:618280
HP:0002089	Pulmonary hypoplasia	3930	LBR	OMIM:215140
HP:0002089	Pulmonary hypoplasia	63895	PIEZO2	OMIM:248700
HP:0002089	Pulmonary hypoplasia	126792	B3GALT6	ORPHA:536467
HP:0002089	Pulmonary hypoplasia	342035	GLDN	OMIM:617194
HP:0002089	Pulmonary hypoplasia	153241	CEP120	OMIM:616300
HP:0002089	Pulmonary hypoplasia	9786	KIAA0586	OMIM:616546
HP:0002089	Pulmonary hypoplasia	4000	LMNA	ORPHA:1662
HP:0002089	Pulmonary hypoplasia	10269	ZMPSTE24	ORPHA:1662
HP:0002089	Pulmonary hypoplasia	10269	ZMPSTE24	OMIM:275210
HP:0002089	Pulmonary hypoplasia	4621	MYH3	ORPHA:2990
HP:0002089	Pulmonary hypoplasia	10195	ALG3	ORPHA:79321
HP:0002089	Pulmonary hypoplasia	7473	WNT3	OMIM:273395
HP:0002089	Pulmonary hypoplasia	54361	WNT4	OMIM:611812
HP:0002089	Pulmonary hypoplasia	54361	WNT4	ORPHA:139466
HP:0002089	Pulmonary hypoplasia	26123	TCTN3	ORPHA:2753
HP:0002089	Pulmonary hypoplasia	57505	AARS2	OMIM:614096
HP:0002089	Pulmonary hypoplasia	54903	MKS1	OMIM:249000
HP:0002089	Pulmonary hypoplasia	1496	CTNNA2	OMIM:618174
HP:0002089	Pulmonary hypoplasia	27152	INTU	OMIM:617925
HP:0002089	Pulmonary hypoplasia	1144	CHRND	OMIM:253290
HP:0002089	Pulmonary hypoplasia	1134	CHRNA1	OMIM:253290
HP:0002089	Pulmonary hypoplasia	498	ATP5F1A	OMIM:615228
HP:0002089	Pulmonary hypoplasia	2108	ETFA	OMIM:231680
HP:0002089	Pulmonary hypoplasia	2109	ETFB	OMIM:231680
HP:0002089	Pulmonary hypoplasia	2110	ETFDH	OMIM:231680
HP:0002089	Pulmonary hypoplasia	168667	BMPER	OMIM:608022
HP:0002090	Pneumonia	57190	SELENON	ORPHA:97244
HP:0002090	Pneumonia	58	ACTA1	ORPHA:97244
HP:0002090	Pneumonia	4860	PNP	OMIM:613179
HP:0002090	Pneumonia	411	ARSB	OMIM:253200
HP:0002090	Pneumonia	3909	LAMA3	ORPHA:79404
HP:0002090	Pneumonia	3918	LAMC2	ORPHA:79404
HP:0002090	Pneumonia	3914	LAMB3	ORPHA:79404
HP:0002090	Pneumonia	10559	SLC35A1	ORPHA:238459
HP:0002090	Pneumonia	4125	MAN2B1	ORPHA:309282
HP:0002090	Pneumonia	4125	MAN2B1	ORPHA:309288
HP:0002090	Pneumonia	5896	RAG1	OMIM:601457
HP:0002090	Pneumonia	5896	RAG1	ORPHA:39041
HP:0002090	Pneumonia	5896	RAG1	OMIM:603554
HP:0002090	Pneumonia	5897	RAG2	OMIM:601457
HP:0002090	Pneumonia	5897	RAG2	ORPHA:39041
HP:0002090	Pneumonia	5897	RAG2	OMIM:603554
HP:0002090	Pneumonia	1387	CREBBP	ORPHA:353281
HP:0002090	Pneumonia	1387	CREBBP	ORPHA:353277
HP:0002090	Pneumonia	3459	IFNGR1	OMIM:209950
HP:0002090	Pneumonia	841	CASP8	OMIM:607271
HP:0002090	Pneumonia	2033	EP300	ORPHA:353284
HP:0002090	Pneumonia	134218	DNAJC21	ORPHA:811
HP:0002090	Pneumonia	79631	EFL1	ORPHA:811
HP:0002090	Pneumonia	51119	SBDS	ORPHA:811
HP:0002090	Pneumonia	6729	SRP54	ORPHA:811
HP:0002090	Pneumonia	6729	SRP54	ORPHA:486
HP:0002090	Pneumonia	2188	FANCF	OMIM:603467
HP:0002090	Pneumonia	7535	ZAP70	OMIM:269840
HP:0002090	Pneumonia	7535	ZAP70	ORPHA:911
HP:0002090	Pneumonia	54	ACP5	OMIM:607944
HP:0002090	Pneumonia	54	ACP5	ORPHA:1855
HP:0002090	Pneumonia	3394	IRF8	OMIM:226990
HP:0002090	Pneumonia	6445	SGCG	OMIM:253700
HP:0002090	Pneumonia	8456	FOXN1	OMIM:618806
HP:0002090	Pneumonia	8742	TNFSF12	ORPHA:1572
HP:0002090	Pneumonia	5580	PRKCD	ORPHA:1572
HP:0002090	Pneumonia	931	MS4A1	ORPHA:1572
HP:0002090	Pneumonia	975	CD81	ORPHA:1572
HP:0002090	Pneumonia	359948	IRF2BP2	ORPHA:1572
HP:0002090	Pneumonia	27019	DNAI1	OMIM:244400
HP:0002090	Pneumonia	4534	MTM1	ORPHA:596
HP:0002090	Pneumonia	1789	DNMT3B	OMIM:242860
HP:0002090	Pneumonia	7092	TLL1	ORPHA:99103
HP:0002090	Pneumonia	57057	TBX20	ORPHA:99103
HP:0002090	Pneumonia	4624	MYH6	ORPHA:99103
HP:0002090	Pneumonia	1482	NKX2-5	ORPHA:99103
HP:0002090	Pneumonia	70	ACTC1	ORPHA:99103
HP:0002090	Pneumonia	10370	CITED2	ORPHA:99103
HP:0002090	Pneumonia	2626	GATA4	ORPHA:99103
HP:0002090	Pneumonia	2627	GATA6	ORPHA:99103
HP:0002090	Pneumonia	28962	OSTM1	ORPHA:85179
HP:0002090	Pneumonia	54914	FOCAD	OMIM:619991
HP:0002090	Pneumonia	9841	ZBTB24	OMIM:614069
HP:0002090	Pneumonia	64446	DNAI2	OMIM:612444
HP:0002090	Pneumonia	6023	RMRP	ORPHA:39041
HP:0002090	Pneumonia	55636	CHD7	ORPHA:39041
HP:0002090	Pneumonia	3981	LIG4	ORPHA:39041
HP:0002090	Pneumonia	64421	DCLRE1C	ORPHA:39041
HP:0002090	Pneumonia	64421	DCLRE1C	OMIM:603554
HP:0002090	Pneumonia	64421	DCLRE1C	OMIM:602450
HP:0002090	Pneumonia	3575	IL7R	ORPHA:39041
HP:0002090	Pneumonia	3575	IL7R	OMIM:608971
HP:0002090	Pneumonia	11128	POLR3A	OMIM:264090
HP:0002090	Pneumonia	374879	ZNF699	OMIM:619488
HP:0002090	Pneumonia	629	CFB	OMIM:615561
HP:0002090	Pneumonia	2215	FCGR3B	ORPHA:464370
HP:0002090	Pneumonia	775	CACNA1C	OMIM:601005
HP:0002090	Pneumonia	5966	REL	OMIM:619652
HP:0002090	Pneumonia	50943	FOXP3	ORPHA:37042
HP:0002090	Pneumonia	25836	NIPBL	OMIM:122470
HP:0002090	Pneumonia	84433	CARD11	OMIM:617638
HP:0002090	Pneumonia	6261	RYR1	ORPHA:98905
HP:0002090	Pneumonia	23765	IL17RA	OMIM:613953
HP:0002090	Pneumonia	3594	IL12RB1	ORPHA:319552
HP:0002090	Pneumonia	5903	RANBP2	OMIM:608033
HP:0002090	Pneumonia	10312	TCIRG1	ORPHA:486
HP:0002090	Pneumonia	1991	ELANE	ORPHA:486
HP:0002090	Pneumonia	2672	GFI1	ORPHA:486
HP:0002090	Pneumonia	37	ACADVL	ORPHA:26793
HP:0002090	Pneumonia	6850	SYK	OMIM:619381
HP:0002090	Pneumonia	641	BLM	ORPHA:125
HP:0002090	Pneumonia	11277	TREX1	ORPHA:247691
HP:0002090	Pneumonia	345643	MCIDAS	OMIM:618695
HP:0002090	Pneumonia	80199	FUZ	ORPHA:1136
HP:0002090	Pneumonia	21	ABCA3	ORPHA:70587
HP:0002090	Pneumonia	6439	SFTPB	ORPHA:70587
HP:0002090	Pneumonia	4054	LTBP3	OMIM:617809
HP:0002090	Pneumonia	3476	IGBP1	OMIM:300472
HP:0002090	Pneumonia	79848	CSPP1	ORPHA:397715
HP:0002090	Pneumonia	9786	KIAA0586	ORPHA:397715
HP:0002090	Pneumonia	4914	NTRK1	ORPHA:642
HP:0002090	Pneumonia	4784	NFIX	OMIM:602535
HP:0002090	Pneumonia	427	ASAH1	ORPHA:2590
HP:0002090	Pneumonia	23556	PIGN	ORPHA:280633
HP:0002090	Pneumonia	2629	GBA1	OMIM:230900
HP:0002090	Pneumonia	535	ATP6V0A1	OMIM:619971
HP:0002090	Pneumonia	4281	MID1	ORPHA:2745
HP:0002090	Pneumonia	29957	SLC25A24	OMIM:612289
HP:0002090	Pneumonia	7994	KAT6A	OMIM:616268
HP:0002090	Pneumonia	9361	LONP1	ORPHA:79243
HP:0002090	Pneumonia	5160	PDHA1	ORPHA:79243
HP:0002090	Pneumonia	3431	SP110	ORPHA:79124
HP:0002090	Pneumonia	378884	NHLRC1	ORPHA:501
HP:0002090	Pneumonia	7957	EPM2A	ORPHA:501
HP:0002090	Pneumonia	3119	HLA-DQB1	ORPHA:930
HP:0002090	Pneumonia	9244	CRLF1	ORPHA:930
HP:0002090	Pneumonia	3117	HLA-DQA1	ORPHA:930
HP:0002090	Pneumonia	4842	NOS1	ORPHA:930
HP:0002090	Pneumonia	5293	PIK3CD	ORPHA:221139
HP:0002090	Pneumonia	90417	KNSTRN	ORPHA:221139
HP:0002090	Pneumonia	10755	GIPC1	ORPHA:98897
HP:0002090	Pneumonia	100996717	NOTCH2NLC	ORPHA:98897
HP:0002090	Pneumonia	8085	KMT2D	OMIM:147920
HP:0002090	Pneumonia	7403	KDM6A	OMIM:147920
HP:0002090	Pneumonia	100	ADA	ORPHA:277
HP:0002090	Pneumonia	100	ADA	OMIM:102700
HP:0002090	Pneumonia	2137	EXTL3	ORPHA:508533
HP:0002090	Pneumonia	4921	DDR2	OMIM:271665
HP:0002090	Pneumonia	3763	KCNJ6	ORPHA:435628
HP:0002090	Pneumonia	3763	KCNJ6	OMIM:614098
HP:0002090	Pneumonia	83538	ODAD4	OMIM:617092
HP:0002090	Pneumonia	4791	NFKB2	ORPHA:293978
HP:0002090	Pneumonia	4791	NFKB2	OMIM:615577
HP:0002090	Pneumonia	695	BTK	OMIM:300755
HP:0002090	Pneumonia	695	BTK	ORPHA:47
HP:0002090	Pneumonia	5351	PLOD1	OMIM:225400
HP:0002090	Pneumonia	5351	PLOD1	ORPHA:1900
HP:0002090	Pneumonia	6477	SIAH1	OMIM:619314
HP:0002090	Pneumonia	4683	NBN	OMIM:251260
HP:0002090	Pneumonia	4683	NBN	ORPHA:647
HP:0002090	Pneumonia	4688	NCF2	OMIM:233710
HP:0002090	Pneumonia	8425	LTBP4	OMIM:613177
HP:0002090	Pneumonia	2622	GAS8	OMIM:616726
HP:0002090	Pneumonia	5238	PGM3	ORPHA:443811
HP:0002090	Pneumonia	27148	STK36	OMIM:619436
HP:0002090	Pneumonia	5880	RAC2	OMIM:618986
HP:0002090	Pneumonia	11133	KPTN	OMIM:615637
HP:0002090	Pneumonia	11133	KPTN	ORPHA:397612
HP:0002090	Pneumonia	57539	WDR35	OMIM:613610
HP:0002090	Pneumonia	81857	MED25	OMIM:616449
HP:0002090	Pneumonia	81857	MED25	ORPHA:464738
HP:0002090	Pneumonia	100151683	RNU4ATAC	ORPHA:353298
HP:0002090	Pneumonia	100151683	RNU4ATAC	OMIM:616651
HP:0002090	Pneumonia	987	LRBA	OMIM:614700
HP:0002090	Pneumonia	755	CFAP410	OMIM:602271
HP:0002090	Pneumonia	9094	UNC119	OMIM:615518
HP:0002090	Pneumonia	126792	B3GALT6	OMIM:609465
HP:0002090	Pneumonia	79650	USB1	OMIM:604173
HP:0002090	Pneumonia	6720	SREBF1	OMIM:158310
HP:0002090	Pneumonia	1302	COL11A2	OMIM:215150
HP:0002090	Pneumonia	54768	HYDIN	OMIM:608647
HP:0002090	Pneumonia	4522	MTHFD1	OMIM:617780
HP:0002090	Pneumonia	161582	DNAAF4	OMIM:615482
HP:0002090	Pneumonia	3561	IL2RG	OMIM:300400
HP:0002090	Pneumonia	9948	WDR1	OMIM:150550
HP:0002090	Pneumonia	939	CD27	OMIM:615122
HP:0002090	Pneumonia	23149	FCHO1	OMIM:619164
HP:0002090	Pneumonia	10157	AASS	ORPHA:2203
HP:0002090	Pneumonia	5184	PEPD	OMIM:170100
HP:0002090	Pneumonia	65082	VPS33A	OMIM:617303
HP:0002090	Pneumonia	4790	NFKB1	OMIM:616576
HP:0002090	Pneumonia	3543	IGLL1	OMIM:613500
HP:0002090	Pneumonia	29760	BLNK	OMIM:613502
HP:0002090	Pneumonia	79158	GNPTAB	OMIM:252500
HP:0002090	Pneumonia	8382	NME5	OMIM:620032
HP:0002090	Pneumonia	6440	SFTPC	OMIM:610913
HP:0002090	Pneumonia	3417	IDH1	ORPHA:99646
HP:0002090	Pneumonia	6904	TBCD	ORPHA:496641
HP:0002090	Pneumonia	6595	SMARCA2	OMIM:619293
HP:0002090	Pneumonia	2212	FCGR2A	OMIM:219700
HP:0002090	Pneumonia	7040	TGFB1	OMIM:219700
HP:0002090	Pneumonia	915	CD3D	ORPHA:169160
HP:0002090	Pneumonia	916	CD3E	ORPHA:169160
HP:0002090	Pneumonia	919	CD247	ORPHA:169160
HP:0002090	Pneumonia	919	CD247	OMIM:610163
HP:0002090	Pneumonia	4001	LMNB1	OMIM:619179
HP:0002090	Pneumonia	7084	TK2	ORPHA:254875
HP:0002090	Pneumonia	23495	TNFRSF13B	OMIM:240500
HP:0002090	Pneumonia	115650	TNFRSF13C	OMIM:240500
HP:0002090	Pneumonia	115650	TNFRSF13C	OMIM:613494
HP:0002090	Pneumonia	1380	CR2	OMIM:240500
HP:0002090	Pneumonia	29851	ICOS	OMIM:240500
HP:0002090	Pneumonia	29851	ICOS	OMIM:607594
HP:0002090	Pneumonia	930	CD19	OMIM:240500
HP:0002090	Pneumonia	1956	EGFR	OMIM:616069
HP:0002090	Pneumonia	3952	LEP	OMIM:614962
HP:0002090	Pneumonia	8792	TNFRSF11A	OMIM:612301
HP:0002090	Pneumonia	10095	ARPC1B	OMIM:617718
HP:0002090	Pneumonia	7840	ALMS1	OMIM:203800
HP:0002090	Pneumonia	7840	ALMS1	ORPHA:64
HP:0002090	Pneumonia	7080	NKX2-1	ORPHA:209905
HP:0002090	Pneumonia	8546	AP3B1	OMIM:608233
HP:0002090	Pneumonia	79087	ALG12	OMIM:607143
HP:0002090	Pneumonia	79087	ALG12	ORPHA:79324
HP:0002090	Pneumonia	6899	TBX1	OMIM:188400
HP:0002090	Pneumonia	7852	CXCR4	ORPHA:51636
HP:0002090	Pneumonia	54681	P4HTM	OMIM:618493
HP:0002090	Pneumonia	146206	CARMIL2	OMIM:618131
HP:0002090	Pneumonia	79415	CYBC1	OMIM:618935
HP:0002090	Pneumonia	653361	NCF1	OMIM:233700
HP:0002090	Pneumonia	23594	ORC6	OMIM:613803
HP:0002090	Pneumonia	26040	SETBP1	ORPHA:798
HP:0002090	Pneumonia	55036	CCDC40	OMIM:613808
HP:0002090	Pneumonia	339829	CCDC39	OMIM:613807
HP:0002090	Pneumonia	2074	ERCC6	OMIM:214150
HP:0002090	Pneumonia	2328	FMO3	OMIM:602079
HP:0002090	Pneumonia	7454	WAS	OMIM:301000
HP:0002090	Pneumonia	3572	IL6ST	OMIM:619752
HP:0002090	Pneumonia	3572	IL6ST	OMIM:619750
HP:0002090	Pneumonia	2588	GALNS	OMIM:253000
HP:0002090	Pneumonia	718	C3	OMIM:613779
HP:0002090	Pneumonia	4796	TONSL	ORPHA:93357
HP:0002090	Pneumonia	3507	IGHM	OMIM:601495
HP:0002090	Pneumonia	6774	STAT3	OMIM:147060
HP:0002090	Pneumonia	57169	ZNFX1	OMIM:619644
HP:0002090	Pneumonia	5971	RELB	OMIM:617585
HP:0002090	Pneumonia	974	CD79B	OMIM:612692
HP:0002090	Pneumonia	50615	IL21R	OMIM:615207
HP:0002090	Pneumonia	8701	DNAH11	OMIM:611884
HP:0002090	Pneumonia	51341	ZBTB7A	OMIM:619769
HP:0002090	Pneumonia	3718	JAK3	ORPHA:35078
HP:0002090	Pneumonia	199221	DZIP1L	ORPHA:731
HP:0002090	Pneumonia	5314	PKHD1	ORPHA:731
HP:0002090	Pneumonia	55343	SLC35C1	ORPHA:99843
HP:0002090	Pneumonia	84905	ZNF341	OMIM:618282
HP:0002090	Pneumonia	5422	POLA1	OMIM:301220
HP:0002090	Pneumonia	92749	DRC1	OMIM:615294
HP:0002090	Pneumonia	5317	PKP1	ORPHA:158668
HP:0002090	Pneumonia	54941	RNF125	OMIM:616260
HP:0002090	Pneumonia	3423	IDS	OMIM:309900
HP:0002090	Pneumonia	5879	RAC1	OMIM:617751
HP:0002090	Pneumonia	5879	RAC1	ORPHA:500159
HP:0002090	Pneumonia	6603	SMARCD2	OMIM:617475
HP:0002090	Pneumonia	55130	ODAD2	OMIM:615451
HP:0002090	Pneumonia	10747	MASP2	OMIM:613791
HP:0002090	Pneumonia	27040	LAT	OMIM:617514
HP:0002090	Pneumonia	4052	LTBP1	ORPHA:90349
HP:0002090	Pneumonia	30008	EFEMP2	ORPHA:90349
HP:0002090	Pneumonia	10516	FBLN5	ORPHA:90349
HP:0002090	Pneumonia	1535	CYBA	OMIM:233690
HP:0002090	Pneumonia	3514	IGKC	ORPHA:183675
HP:0002090	Pneumonia	3501	IGHG2	ORPHA:183675
HP:0002090	Pneumonia	1536	CYBB	OMIM:306400
HP:0002090	Pneumonia	81704	DOCK8	OMIM:243700
HP:0002090	Pneumonia	81570	CLPB	OMIM:616271
HP:0002090	Pneumonia	93233	ODAD1	OMIM:615067
HP:0002090	Pneumonia	57728	WDR19	OMIM:614378
HP:0002090	Pneumonia	721	C4B	OMIM:614379
HP:0002090	Pneumonia	1794	DOCK2	OMIM:616433
HP:0002090	Pneumonia	284119	CAVIN1	OMIM:613327
HP:0002090	Pneumonia	6929	TCF3	OMIM:619824
HP:0002090	Pneumonia	871	SERPINH1	OMIM:613848
HP:0002090	Pneumonia	55294	FBXW7	OMIM:620012
HP:0002090	Pneumonia	165918	RNF168	ORPHA:420741
HP:0002090	Pneumonia	5813	PURA	ORPHA:314655
HP:0002090	Pneumonia	1439	CSF2RB	ORPHA:264675
HP:0002090	Pneumonia	1438	CSF2RA	ORPHA:264675
HP:0002090	Pneumonia	6340	SCNN1G	ORPHA:60033
HP:0002090	Pneumonia	1080	CFTR	ORPHA:60033
HP:0002090	Pneumonia	6337	SCNN1A	ORPHA:60033
HP:0002090	Pneumonia	6338	SCNN1B	ORPHA:60033
HP:0002090	Pneumonia	5373	PMM2	ORPHA:79318
HP:0002090	Pneumonia	9342	SNAP29	OMIM:609528
HP:0002090	Pneumonia	55791	LRIF1	OMIM:619477
HP:0002090	Pneumonia	54809	SAMD9	OMIM:617053
HP:0002090	Pneumonia	55037	PTCD3	OMIM:619057
HP:0002090	Pneumonia	2260	FGFR1	ORPHA:220386
HP:0002090	Pneumonia	2260	FGFR1	ORPHA:93924
HP:0002090	Pneumonia	28514	DLL1	ORPHA:220386
HP:0002090	Pneumonia	28514	DLL1	ORPHA:93926
HP:0002090	Pneumonia	28514	DLL1	ORPHA:93924
HP:0002090	Pneumonia	28514	DLL1	ORPHA:93925
HP:0002090	Pneumonia	10735	STAG2	ORPHA:220386
HP:0002090	Pneumonia	10735	STAG2	ORPHA:93925
HP:0002090	Pneumonia	2253	FGF8	ORPHA:220386
HP:0002090	Pneumonia	2253	FGF8	ORPHA:93926
HP:0002090	Pneumonia	2253	FGF8	ORPHA:93924
HP:0002090	Pneumonia	2253	FGF8	ORPHA:93925
HP:0002090	Pneumonia	8243	SMC1A	ORPHA:220386
HP:0002090	Pneumonia	6496	SIX3	ORPHA:220386
HP:0002090	Pneumonia	6496	SIX3	ORPHA:93926
HP:0002090	Pneumonia	6496	SIX3	ORPHA:93924
HP:0002090	Pneumonia	6496	SIX3	ORPHA:93925
HP:0002090	Pneumonia	7050	TGIF1	ORPHA:220386
HP:0002090	Pneumonia	7050	TGIF1	ORPHA:93926
HP:0002090	Pneumonia	7050	TGIF1	ORPHA:93924
HP:0002090	Pneumonia	7050	TGIF1	ORPHA:93925
HP:0002090	Pneumonia	4838	NODAL	ORPHA:220386
HP:0002090	Pneumonia	4838	NODAL	ORPHA:93926
HP:0002090	Pneumonia	4838	NODAL	ORPHA:93924
HP:0002090	Pneumonia	4838	NODAL	ORPHA:93925
HP:0002090	Pneumonia	6469	SHH	ORPHA:220386
HP:0002090	Pneumonia	6469	SHH	ORPHA:93926
HP:0002090	Pneumonia	6469	SHH	ORPHA:93924
HP:0002090	Pneumonia	6469	SHH	ORPHA:93925
HP:0002090	Pneumonia	7546	ZIC2	ORPHA:220386
HP:0002090	Pneumonia	7546	ZIC2	ORPHA:93926
HP:0002090	Pneumonia	7546	ZIC2	ORPHA:93924
HP:0002090	Pneumonia	7546	ZIC2	ORPHA:93925
HP:0002090	Pneumonia	6491	STIL	ORPHA:220386
HP:0002090	Pneumonia	6491	STIL	ORPHA:93926
HP:0002090	Pneumonia	6491	STIL	ORPHA:93924
HP:0002090	Pneumonia	6491	STIL	ORPHA:93925
HP:0002090	Pneumonia	2619	GAS1	ORPHA:220386
HP:0002090	Pneumonia	2619	GAS1	ORPHA:93926
HP:0002090	Pneumonia	2619	GAS1	ORPHA:93924
HP:0002090	Pneumonia	2619	GAS1	ORPHA:93925
HP:0002090	Pneumonia	84976	DISP1	ORPHA:220386
HP:0002090	Pneumonia	84976	DISP1	ORPHA:93926
HP:0002090	Pneumonia	84976	DISP1	ORPHA:93924
HP:0002090	Pneumonia	84976	DISP1	ORPHA:93925
HP:0002090	Pneumonia	2736	GLI2	ORPHA:220386
HP:0002090	Pneumonia	2736	GLI2	ORPHA:93926
HP:0002090	Pneumonia	2736	GLI2	ORPHA:93924
HP:0002090	Pneumonia	2736	GLI2	ORPHA:93925
HP:0002090	Pneumonia	8928	FOXH1	ORPHA:220386
HP:0002090	Pneumonia	8928	FOXH1	ORPHA:93926
HP:0002090	Pneumonia	8928	FOXH1	ORPHA:93924
HP:0002090	Pneumonia	8928	FOXH1	ORPHA:93925
HP:0002090	Pneumonia	5727	PTCH1	ORPHA:220386
HP:0002090	Pneumonia	5727	PTCH1	ORPHA:93926
HP:0002090	Pneumonia	5727	PTCH1	ORPHA:93924
HP:0002090	Pneumonia	5727	PTCH1	ORPHA:93925
HP:0002090	Pneumonia	50937	CDON	ORPHA:220386
HP:0002090	Pneumonia	50937	CDON	ORPHA:93926
HP:0002090	Pneumonia	50937	CDON	ORPHA:93924
HP:0002090	Pneumonia	50937	CDON	ORPHA:93925
HP:0002090	Pneumonia	27125	AFF4	OMIM:616368
HP:0002090	Pneumonia	27125	AFF4	ORPHA:444077
HP:0002090	Pneumonia	6597	SMARCA4	ORPHA:1465
HP:0002090	Pneumonia	6598	SMARCB1	ORPHA:1465
HP:0002090	Pneumonia	6659	SOX4	ORPHA:1465
HP:0002090	Pneumonia	8289	ARID1A	ORPHA:1465
HP:0002090	Pneumonia	5977	DPF2	ORPHA:1465
HP:0002090	Pneumonia	6601	SMARCC2	ORPHA:1465
HP:0002090	Pneumonia	6602	SMARCD1	ORPHA:1465
HP:0002090	Pneumonia	57492	ARID1B	ORPHA:1465
HP:0002090	Pneumonia	196528	ARID2	ORPHA:1465
HP:0002090	Pneumonia	6605	SMARCE1	ORPHA:1465
HP:0002090	Pneumonia	6664	SOX11	ORPHA:1465
HP:0002090	Pneumonia	133686	NADK2	ORPHA:431361
HP:0002090	Pneumonia	8398	PLA2G6	ORPHA:35069
HP:0002090	Pneumonia	5048	PAFAH1B1	ORPHA:95232
HP:0002090	Pneumonia	6872	TAF1	ORPHA:53351
HP:0002090	Pneumonia	526	ATP6V1B2	ORPHA:79500
HP:0002090	Pneumonia	57465	TBC1D24	ORPHA:79500
HP:0002090	Pneumonia	9896	FIG4	OMIM:216340
HP:0002090	Pneumonia	7314	UBB	ORPHA:99772
HP:0002090	Pneumonia	57822	GRHL3	ORPHA:99772
HP:0002090	Pneumonia	1678	TIMM8A	ORPHA:52368
HP:0002090	Pneumonia	283446	MYO1H	OMIM:619482
HP:0002090	Pneumonia	4633	MYL2	ORPHA:2020
HP:0002090	Pneumonia	3679	ITGA7	ORPHA:2020
HP:0002090	Pneumonia	7169	TPM2	ORPHA:2020
HP:0002090	Pneumonia	9200	HACD1	ORPHA:2020
HP:0002090	Pneumonia	7170	TPM3	ORPHA:2020
HP:0002090	Pneumonia	51776	MAP3K20	ORPHA:2020
HP:0002090	Pneumonia	80025	PANK2	ORPHA:216866
HP:0002090	Pneumonia	92935	MARS2	OMIM:616430
HP:0002090	Pneumonia	4700	NDUFA6	OMIM:618253
HP:0002090	Pneumonia	6392	SDHD	OMIM:619167
HP:0002090	Pneumonia	10342	TFG	ORPHA:90117
HP:0002090	Pneumonia	23007	PLCH1	ORPHA:93925
HP:0002090	Pneumonia	5277	PIGA	OMIM:301072
HP:0002090	Pneumonia	2720	GLB1	ORPHA:79255
HP:0002090	Pneumonia	1288	COL4A6	ORPHA:1018
HP:0002090	Pneumonia	1287	COL4A5	ORPHA:1018
HP:0002090	Pneumonia	64135	IFIH1	OMIM:619773
HP:0002091	Restrictive ventilatory defect	4921	DDR2	OMIM:271665
HP:0002091	Restrictive ventilatory defect	57190	SELENON	ORPHA:324604
HP:0002091	Restrictive ventilatory defect	57190	SELENON	OMIM:602771
HP:0002091	Restrictive ventilatory defect	4625	MYH7	ORPHA:324604
HP:0002091	Restrictive ventilatory defect	4625	MYH7	OMIM:255160
HP:0002091	Restrictive ventilatory defect	7273	TTN	ORPHA:324604
HP:0002091	Restrictive ventilatory defect	7273	TTN	ORPHA:178464
HP:0002091	Restrictive ventilatory defect	79912	PYROXD1	OMIM:617258
HP:0002091	Restrictive ventilatory defect	1756	DMD	OMIM:310200
HP:0002091	Restrictive ventilatory defect	755	CFAP410	OMIM:602271
HP:0002091	Restrictive ventilatory defect	1736	DKC1	OMIM:305000
HP:0002091	Restrictive ventilatory defect	1776	DNASE1L3	ORPHA:36412
HP:0002091	Restrictive ventilatory defect	411	ARSB	OMIM:253200
HP:0002091	Restrictive ventilatory defect	4568	MT-TL2	ORPHA:663
HP:0002091	Restrictive ventilatory defect	4567	MT-TL1	ORPHA:663
HP:0002091	Restrictive ventilatory defect	4570	MT-TN	ORPHA:663
HP:0002091	Restrictive ventilatory defect	4574	MT-TS1	ORPHA:663
HP:0002091	Restrictive ventilatory defect	100151683	RNU4ATAC	OMIM:226960
HP:0002091	Restrictive ventilatory defect	84466	MEGF10	OMIM:614399
HP:0002091	Restrictive ventilatory defect	7248	TSC1	ORPHA:538
HP:0002091	Restrictive ventilatory defect	7249	TSC2	ORPHA:538
HP:0002091	Restrictive ventilatory defect	79147	FKRP	OMIM:607155
HP:0002091	Restrictive ventilatory defect	79147	FKRP	OMIM:606612
HP:0002091	Restrictive ventilatory defect	79158	GNPTAB	ORPHA:576
HP:0002091	Restrictive ventilatory defect	114548	NLRP3	ORPHA:575
HP:0002091	Restrictive ventilatory defect	2022	ENG	OMIM:187300
HP:0002091	Restrictive ventilatory defect	3106	HLA-B	ORPHA:36426
HP:0002091	Restrictive ventilatory defect	10320	IKZF1	ORPHA:36426
HP:0002091	Restrictive ventilatory defect	54	ACP5	OMIM:607944
HP:0002091	Restrictive ventilatory defect	2483	FRG1	OMIM:158900
HP:0002091	Restrictive ventilatory defect	1439	CSF2RB	ORPHA:264675
HP:0002091	Restrictive ventilatory defect	1438	CSF2RA	ORPHA:264675
HP:0002091	Restrictive ventilatory defect	1438	CSF2RA	OMIM:300770
HP:0002091	Restrictive ventilatory defect	653509	SFTPA1	OMIM:619611
HP:0002091	Restrictive ventilatory defect	23345	SYNE1	OMIM:618484
HP:0002091	Restrictive ventilatory defect	8260	NAA10	OMIM:300855
HP:0002091	Restrictive ventilatory defect	3423	IDS	ORPHA:217085
HP:0002091	Restrictive ventilatory defect	3423	IDS	ORPHA:217093
HP:0002091	Restrictive ventilatory defect	56244	BTNL2	OMIM:612387
HP:0002091	Restrictive ventilatory defect	6445	SGCG	OMIM:253700
HP:0002091	Restrictive ventilatory defect	29967	LRP12	OMIM:164310
HP:0002091	Restrictive ventilatory defect	5351	PLOD1	ORPHA:1900
HP:0002091	Restrictive ventilatory defect	2261	FGFR3	ORPHA:15
HP:0002091	Restrictive ventilatory defect	80324	PUS1	OMIM:600462
HP:0002091	Restrictive ventilatory defect	2720	GLB1	OMIM:253010
HP:0002091	Restrictive ventilatory defect	23495	TNFRSF13B	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	4790	NFKB1	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	4791	NFKB2	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	115650	TNFRSF13C	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	1380	CR2	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	8742	TNFSF12	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	5580	PRKCD	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	930	CD19	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	29851	ICOS	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	931	MS4A1	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	975	CD81	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	359948	IRF2BP2	ORPHA:1572
HP:0002091	Restrictive ventilatory defect	1280	COL2A1	OMIM:183900
HP:0002091	Restrictive ventilatory defect	9531	BAG3	OMIM:612954
HP:0002091	Restrictive ventilatory defect	374393	FAM111B	OMIM:615704
HP:0002091	Restrictive ventilatory defect	10755	GIPC1	ORPHA:98897
HP:0002091	Restrictive ventilatory defect	100996717	NOTCH2NLC	ORPHA:98897
HP:0002091	Restrictive ventilatory defect	10568	SLC34A2	OMIM:265100
HP:0002091	Restrictive ventilatory defect	10568	SLC34A2	ORPHA:60025
HP:0002091	Restrictive ventilatory defect	7840	ALMS1	ORPHA:64
HP:0002091	Restrictive ventilatory defect	2588	GALNS	OMIM:253000
HP:0002091	Restrictive ventilatory defect	1861	TOR1A	OMIM:618947
HP:0002091	Restrictive ventilatory defect	400916	CHCHD10	ORPHA:457050
HP:0002091	Restrictive ventilatory defect	3257	HPS1	OMIM:203300
HP:0002091	Restrictive ventilatory defect	3123	HLA-DRB1	ORPHA:747
HP:0002091	Restrictive ventilatory defect	3123	HLA-DRB1	OMIM:181000
HP:0002091	Restrictive ventilatory defect	1493	CTLA4	ORPHA:900
HP:0002091	Restrictive ventilatory defect	26191	PTPN22	ORPHA:900
HP:0002091	Restrictive ventilatory defect	3115	HLA-DPB1	ORPHA:900
HP:0002091	Restrictive ventilatory defect	5657	PRTN3	ORPHA:900
HP:0002091	Restrictive ventilatory defect	3113	HLA-DPA1	ORPHA:900
HP:0002091	Restrictive ventilatory defect	63895	PIEZO2	OMIM:108145
HP:0002091	Restrictive ventilatory defect	283446	MYO1H	OMIM:619482
HP:0002091	Restrictive ventilatory defect	89781	HPS4	OMIM:614073
HP:0002091	Restrictive ventilatory defect	1314	COPA	OMIM:616414
HP:0002091	Restrictive ventilatory defect	8701	DNAH11	OMIM:611884
HP:0002091	Restrictive ventilatory defect	6117	RPA1	OMIM:619767
HP:0002091	Restrictive ventilatory defect	388015	RTL1	ORPHA:96334
HP:0002091	Restrictive ventilatory defect	8788	DLK1	ORPHA:96334
HP:0002091	Restrictive ventilatory defect	55384	MEG3	ORPHA:96334
HP:0002091	Restrictive ventilatory defect	6329	SCN4A	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	1134	CHRNA1	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	4038	LRP4	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	1305	COL13A1	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	1140	CHRNB1	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	1144	CHRND	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	1145	CHRNE	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	4593	MUSK	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	5913	RAPSN	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	375790	AGRN	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	221264	AK9	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	285489	DOK7	ORPHA:98913
HP:0002091	Restrictive ventilatory defect	145873	MESP2	OMIM:608681
HP:0002091	Restrictive ventilatory defect	23299	BICD2	OMIM:615290
HP:0002091	Restrictive ventilatory defect	126792	B3GALT6	ORPHA:536467
HP:0002091	Restrictive ventilatory defect	2193	FARSA	OMIM:619013
HP:0002091	Restrictive ventilatory defect	56983	POGLUT1	OMIM:617232
HP:0002091	Restrictive ventilatory defect	2317	FLNB	OMIM:272460
HP:0002091	Restrictive ventilatory defect	60684	TRAPPC11	ORPHA:369840
HP:0002091	Restrictive ventilatory defect	60684	TRAPPC11	ORPHA:369847
HP:0002091	Restrictive ventilatory defect	57728	WDR19	OMIM:614376
HP:0002091	Restrictive ventilatory defect	84667	HES7	OMIM:613686
HP:0002091	Restrictive ventilatory defect	54332	GDAP1	ORPHA:99948
HP:0002091	Restrictive ventilatory defect	165918	RNF168	ORPHA:420741
HP:0002091	Restrictive ventilatory defect	7080	NKX2-1	OMIM:610978
HP:0002091	Restrictive ventilatory defect	246329	STAC3	OMIM:255995
HP:0002091	Restrictive ventilatory defect	9990	SLC12A6	OMIM:218000
HP:0002094	Dyspnea	3763	KCNJ6	ORPHA:435628
HP:0002094	Dyspnea	51343	FZR1	OMIM:620145
HP:0002094	Dyspnea	727897	MUC5B	OMIM:178500
HP:0002094	Dyspnea	729238	SFTPA2	OMIM:178500
HP:0002094	Dyspnea	7015	TERT	OMIM:178500
HP:0002094	Dyspnea	7015	TERT	OMIM:614742
HP:0002094	Dyspnea	7015	TERT	OMIM:127550
HP:0002094	Dyspnea	1278	COL1A2	ORPHA:230851
HP:0002094	Dyspnea	4141	MARS1	OMIM:615486
HP:0002094	Dyspnea	70	ACTC1	OMIM:612098
HP:0002094	Dyspnea	70	ACTC1	ORPHA:99103
HP:0002094	Dyspnea	1824	DSC2	OMIM:610476
HP:0002094	Dyspnea	2022	ENG	OMIM:187300
HP:0002094	Dyspnea	653509	SFTPA1	OMIM:619611
HP:0002094	Dyspnea	57158	JPH2	OMIM:613873
HP:0002094	Dyspnea	54790	TET2	ORPHA:98826
HP:0002094	Dyspnea	659	BMPR2	OMIM:178600
HP:0002094	Dyspnea	10370	CITED2	ORPHA:99105
HP:0002094	Dyspnea	10370	CITED2	ORPHA:99103
HP:0002094	Dyspnea	7092	TLL1	ORPHA:99106
HP:0002094	Dyspnea	7092	TLL1	ORPHA:99103
HP:0002094	Dyspnea	112476	PRRT2	ORPHA:98810
HP:0002094	Dyspnea	25953	PNKD	ORPHA:98810
HP:0002094	Dyspnea	1621	DBH	ORPHA:230
HP:0002094	Dyspnea	3043	HBB	ORPHA:231214
HP:0002094	Dyspnea	3043	HBB	ORPHA:231226
HP:0002094	Dyspnea	1763	DNA2	OMIM:615156
HP:0002094	Dyspnea	6340	SCNN1G	ORPHA:60033
HP:0002094	Dyspnea	1080	CFTR	ORPHA:60033
HP:0002094	Dyspnea	6337	SCNN1A	ORPHA:60033
HP:0002094	Dyspnea	6338	SCNN1B	ORPHA:60033
HP:0002094	Dyspnea	51604	PIGT	OMIM:615399
HP:0002094	Dyspnea	7139	TNNT2	OMIM:115195
HP:0002094	Dyspnea	7139	TNNT2	ORPHA:75249
HP:0002094	Dyspnea	7454	WAS	ORPHA:906
HP:0002094	Dyspnea	7456	WIPF1	ORPHA:906
HP:0002094	Dyspnea	6329	SCN4A	ORPHA:99735
HP:0002094	Dyspnea	23137	SMC5	OMIM:620185
HP:0002094	Dyspnea	92667	MGME1	ORPHA:352447
HP:0002094	Dyspnea	92667	MGME1	OMIM:615084
HP:0002094	Dyspnea	10342	TFG	ORPHA:90117
HP:0002094	Dyspnea	3815	KIT	ORPHA:79455
HP:0002094	Dyspnea	3115	HLA-DPB1	ORPHA:133
HP:0002094	Dyspnea	25978	CHMP2B	ORPHA:803
HP:0002094	Dyspnea	3178	HNRNPA1	ORPHA:803
HP:0002094	Dyspnea	8148	TAF15	ORPHA:803
HP:0002094	Dyspnea	5445	PON2	ORPHA:803
HP:0002094	Dyspnea	9217	VAPB	ORPHA:803
HP:0002094	Dyspnea	8878	SQSTM1	ORPHA:803
HP:0002094	Dyspnea	5630	PRPH	ORPHA:803
HP:0002094	Dyspnea	29110	TBK1	ORPHA:803
HP:0002094	Dyspnea	55830	GLT8D1	ORPHA:803
HP:0002094	Dyspnea	755	CFAP410	ORPHA:803
HP:0002094	Dyspnea	10891	PPARGC1A	ORPHA:803
HP:0002094	Dyspnea	6647	SOD1	ORPHA:803
HP:0002094	Dyspnea	10133	OPTN	ORPHA:803
HP:0002094	Dyspnea	1639	DCTN1	ORPHA:803
HP:0002094	Dyspnea	9896	FIG4	ORPHA:803
HP:0002094	Dyspnea	5444	PON1	ORPHA:803
HP:0002094	Dyspnea	5446	PON3	ORPHA:803
HP:0002094	Dyspnea	4744	NEFH	ORPHA:803
HP:0002094	Dyspnea	5216	PFN1	ORPHA:803
HP:0002094	Dyspnea	9782	MATR3	ORPHA:803
HP:0002094	Dyspnea	54209	TREM2	ORPHA:803
HP:0002094	Dyspnea	7415	VCP	ORPHA:803
HP:0002094	Dyspnea	7415	VCP	ORPHA:435387
HP:0002094	Dyspnea	283	ANG	ORPHA:803
HP:0002094	Dyspnea	23435	TARDBP	ORPHA:803
HP:0002094	Dyspnea	29978	UBQLN2	ORPHA:803
HP:0002094	Dyspnea	2733	GLE1	ORPHA:803
HP:0002094	Dyspnea	2521	FUS	ORPHA:803
HP:0002094	Dyspnea	4750	NEK1	ORPHA:803
HP:0002094	Dyspnea	2043	EPHA4	ORPHA:803
HP:0002094	Dyspnea	6311	ATXN2	ORPHA:803
HP:0002094	Dyspnea	1610	DAO	ORPHA:803
HP:0002094	Dyspnea	2066	ERBB4	ORPHA:803
HP:0002094	Dyspnea	311	ANXA11	ORPHA:803
HP:0002094	Dyspnea	23025	UNC13A	ORPHA:803
HP:0002094	Dyspnea	899	CCNF	ORPHA:803
HP:0002094	Dyspnea	400916	CHCHD10	ORPHA:803
HP:0002094	Dyspnea	64127	NOD2	ORPHA:90340
HP:0002094	Dyspnea	2778	GNAS	ORPHA:79443
HP:0002094	Dyspnea	2778	GNAS	ORPHA:79444
HP:0002094	Dyspnea	2778	GNAS	ORPHA:94089
HP:0002094	Dyspnea	23479	ISCU	OMIM:255125
HP:0002094	Dyspnea	10568	SLC34A2	ORPHA:60025
HP:0002094	Dyspnea	4878	NPPA	OMIM:615745
HP:0002094	Dyspnea	4878	NPPA	ORPHA:1344
HP:0002094	Dyspnea	846	CASR	OMIM:239200
HP:0002094	Dyspnea	1288	COL4A6	ORPHA:1018
HP:0002094	Dyspnea	1287	COL4A5	ORPHA:1018
HP:0002094	Dyspnea	4054	LTBP3	OMIM:617809
HP:0002094	Dyspnea	94	ACVRL1	OMIM:600376
HP:0002094	Dyspnea	79848	CSPP1	OMIM:615636
HP:0002094	Dyspnea	6775	STAT4	ORPHA:93552
HP:0002094	Dyspnea	6696	SPP1	ORPHA:93552
HP:0002094	Dyspnea	3654	IRAK1	ORPHA:93552
HP:0002094	Dyspnea	2057	EPOR	ORPHA:90042
HP:0002094	Dyspnea	1776	DNASE1L3	ORPHA:36412
HP:0002094	Dyspnea	8675	STX16	ORPHA:94089
HP:0002094	Dyspnea	10102	TSFM	OMIM:610505
HP:0002094	Dyspnea	170302	ARX	OMIM:308350
HP:0002094	Dyspnea	10049	DNAJB6	OMIM:603511
HP:0002094	Dyspnea	57104	PNPLA2	ORPHA:565612
HP:0002094	Dyspnea	7273	TTN	ORPHA:178464
HP:0002094	Dyspnea	440275	EIF2AK4	OMIM:234810
HP:0002094	Dyspnea	440275	EIF2AK4	ORPHA:199241
HP:0002094	Dyspnea	26277	TINF2	OMIM:127550
HP:0002094	Dyspnea	7012	TERC	OMIM:127550
HP:0002094	Dyspnea	3949	LDLR	ORPHA:391665
HP:0002094	Dyspnea	255738	PCSK9	ORPHA:391665
HP:0002094	Dyspnea	26119	LDLRAP1	ORPHA:391665
HP:0002094	Dyspnea	338	APOB	ORPHA:391665
HP:0002094	Dyspnea	64240	ABCG5	ORPHA:391665
HP:0002094	Dyspnea	64241	ABCG8	ORPHA:391665
HP:0002094	Dyspnea	4633	MYL2	OMIM:608758
HP:0002094	Dyspnea	3106	HLA-B	ORPHA:36426
HP:0002094	Dyspnea	10320	IKZF1	ORPHA:36426
HP:0002094	Dyspnea	6331	SCN5A	ORPHA:1344
HP:0002094	Dyspnea	6331	SCN5A	OMIM:113900
HP:0002094	Dyspnea	6331	SCN5A	ORPHA:871
HP:0002094	Dyspnea	5318	PKP2	OMIM:609040
HP:0002094	Dyspnea	56244	BTNL2	OMIM:612387
HP:0002094	Dyspnea	56244	BTNL2	ORPHA:797
HP:0002094	Dyspnea	291	SLC25A4	OMIM:615418
HP:0002094	Dyspnea	2717	GLA	ORPHA:324
HP:0002094	Dyspnea	5277	PIGA	ORPHA:447
HP:0002094	Dyspnea	212	ALAS2	ORPHA:75563
HP:0002094	Dyspnea	55863	TMEM126B	OMIM:618250
HP:0002094	Dyspnea	112812	FDX2	OMIM:251900
HP:0002094	Dyspnea	9496	TBX4	ORPHA:261279
HP:0002094	Dyspnea	546	ATRX	ORPHA:231401
HP:0002094	Dyspnea	7134	TNNC1	OMIM:613243
HP:0002094	Dyspnea	9244	CRLF1	OMIM:272430
HP:0002094	Dyspnea	3123	HLA-DRB1	ORPHA:797
HP:0002094	Dyspnea	3123	HLA-DRB1	ORPHA:747
HP:0002094	Dyspnea	3123	HLA-DRB1	OMIM:181000
HP:0002094	Dyspnea	3123	HLA-DRB1	ORPHA:220393
HP:0002094	Dyspnea	54795	TRPM4	ORPHA:871
HP:0002094	Dyspnea	1482	NKX2-5	ORPHA:871
HP:0002094	Dyspnea	1482	NKX2-5	ORPHA:99103
HP:0002094	Dyspnea	6324	SCN1B	ORPHA:871
HP:0002094	Dyspnea	57057	TBX20	ORPHA:99103
HP:0002094	Dyspnea	4624	MYH6	ORPHA:99103
HP:0002094	Dyspnea	2626	GATA4	ORPHA:99103
HP:0002094	Dyspnea	5265	SERPINA1	OMIM:613490
HP:0002094	Dyspnea	10526	IPO8	OMIM:619472
HP:0002094	Dyspnea	11222	MRPL3	OMIM:614582
HP:0002094	Dyspnea	84665	MYPN	ORPHA:75249
HP:0002094	Dyspnea	2318	FLNC	ORPHA:75249
HP:0002094	Dyspnea	7137	TNNI3	ORPHA:75249
HP:0002094	Dyspnea	10112	KIF20A	ORPHA:75249
HP:0002094	Dyspnea	5589	PRKCSH	OMIM:174050
HP:0002094	Dyspnea	2006	ELN	OMIM:123700
HP:0002094	Dyspnea	1314	COPA	OMIM:616414
HP:0002094	Dyspnea	57570	TRMT5	OMIM:616539
HP:0002094	Dyspnea	54800	KLHL24	OMIM:620236
HP:0002094	Dyspnea	50485	SMARCAL1	OMIM:242900
HP:0002094	Dyspnea	10551	AGR2	OMIM:620233
HP:0002094	Dyspnea	100151683	RNU4ATAC	ORPHA:2636
HP:0002094	Dyspnea	8815	BANF1	OMIM:614008
HP:0002094	Dyspnea	5236	PGM1	OMIM:614921
HP:0002094	Dyspnea	51778	MYOZ2	OMIM:613838
HP:0002094	Dyspnea	6609	SMPD1	OMIM:607616
HP:0002094	Dyspnea	2316	FLNA	ORPHA:555877
HP:0002094	Dyspnea	857	CAV1	OMIM:615343
HP:0002094	Dyspnea	857	CAV1	ORPHA:220393
HP:0002094	Dyspnea	1235	CCR6	ORPHA:220393
HP:0002094	Dyspnea	1490	CCN2	ORPHA:220393
HP:0002094	Dyspnea	3663	IRF5	ORPHA:220393
HP:0002094	Dyspnea	1829	DSG2	OMIM:612877
HP:0002094	Dyspnea	9131	AIFM1	ORPHA:238329
HP:0002094	Dyspnea	4702	NDUFA8	OMIM:619272
HP:0002094	Dyspnea	4594	MMUT	ORPHA:289916
HP:0002094	Dyspnea	4594	MMUT	ORPHA:79312
HP:0002094	Dyspnea	4594	MMUT	OMIM:251000
HP:0002094	Dyspnea	23394	ADNP	ORPHA:404448
HP:0002094	Dyspnea	28981	IFT81	OMIM:617895
HP:0002094	Dyspnea	57128	LYRM4	OMIM:615595
HP:0002094	Dyspnea	4574	MT-TS1	OMIM:220110
HP:0002094	Dyspnea	4570	MT-TN	OMIM:220110
HP:0002094	Dyspnea	6834	SURF1	OMIM:220110
HP:0002094	Dyspnea	6834	SURF1	ORPHA:70474
HP:0002094	Dyspnea	55503	TRPV6	OMIM:618188
HP:0002094	Dyspnea	201595	STT3B	OMIM:615597
HP:0002094	Dyspnea	201595	STT3B	ORPHA:370924
HP:0002094	Dyspnea	2629	GBA1	OMIM:608013
HP:0002094	Dyspnea	2629	GBA1	ORPHA:77260
HP:0002094	Dyspnea	3909	LAMA3	ORPHA:79404
HP:0002094	Dyspnea	3918	LAMC2	ORPHA:79404
HP:0002094	Dyspnea	3914	LAMB3	ORPHA:79404
HP:0002094	Dyspnea	10559	SLC35A1	ORPHA:238459
HP:0002094	Dyspnea	2050	EPHB4	OMIM:617300
HP:0002094	Dyspnea	65082	VPS33A	OMIM:617303
HP:0002094	Dyspnea	65082	VPS33A	ORPHA:505248
HP:0002094	Dyspnea	4137	MAPT	ORPHA:240085
HP:0002094	Dyspnea	4137	MAPT	ORPHA:240103
HP:0002094	Dyspnea	84466	MEGF10	OMIM:614399
HP:0002094	Dyspnea	6662	SOX9	OMIM:114290
HP:0002094	Dyspnea	1896	EDA	OMIM:305100
HP:0002094	Dyspnea	2263	FGFR2	ORPHA:93260
HP:0002094	Dyspnea	2263	FGFR2	ORPHA:93259
HP:0002094	Dyspnea	2263	FGFR2	OMIM:123790
HP:0002094	Dyspnea	2263	FGFR2	ORPHA:1555
HP:0002094	Dyspnea	150094	SIK1	OMIM:616341
HP:0002094	Dyspnea	29967	LRP12	OMIM:164310
HP:0002094	Dyspnea	9570	GOSR2	OMIM:620166
HP:0002094	Dyspnea	7080	NKX2-1	ORPHA:209905
HP:0002094	Dyspnea	7080	NKX2-1	OMIM:610978
HP:0002094	Dyspnea	79087	ALG12	OMIM:607143
HP:0002094	Dyspnea	860	RUNX2	OMIM:119600
HP:0002094	Dyspnea	23414	ZFPM2	ORPHA:2140
HP:0002094	Dyspnea	9361	LONP1	ORPHA:2140
HP:0002094	Dyspnea	2627	GATA6	ORPHA:2140
HP:0002094	Dyspnea	2627	GATA6	ORPHA:2255
HP:0002094	Dyspnea	5813	PURA	ORPHA:438216
HP:0002094	Dyspnea	5813	PURA	ORPHA:314655
HP:0002094	Dyspnea	388962	BOLA3	OMIM:614299
HP:0002094	Dyspnea	6389	SDHA	OMIM:613642
HP:0002094	Dyspnea	89910	UBE3B	ORPHA:2707
HP:0002094	Dyspnea	1906	EDN1	ORPHA:137888
HP:0002094	Dyspnea	5332	PLCB4	ORPHA:137888
HP:0002094	Dyspnea	5332	PLCB4	OMIM:614669
HP:0002094	Dyspnea	2773	GNAI3	ORPHA:137888
HP:0002094	Dyspnea	113278	SLC52A3	OMIM:211530
HP:0002094	Dyspnea	6234	RPS28	OMIM:606164
HP:0002094	Dyspnea	4534	MTM1	ORPHA:596
HP:0002094	Dyspnea	7840	ALMS1	ORPHA:64
HP:0002094	Dyspnea	3572	IL6ST	OMIM:619751
HP:0002094	Dyspnea	55768	NGLY1	OMIM:615273
HP:0002094	Dyspnea	2261	FGFR3	OMIM:616482
HP:0002094	Dyspnea	2261	FGFR3	OMIM:100800
HP:0002094	Dyspnea	1280	COL2A1	OMIM:151210
HP:0002094	Dyspnea	1280	COL2A1	OMIM:156550
HP:0002094	Dyspnea	1280	COL2A1	OMIM:183900
HP:0002094	Dyspnea	4607	MYBPC3	OMIM:115197
HP:0002094	Dyspnea	51660	MPC1	OMIM:614741
HP:0002094	Dyspnea	8239	USP9X	ORPHA:480880
HP:0002094	Dyspnea	8239	USP9X	OMIM:300968
HP:0002094	Dyspnea	8021	NUP214	OMIM:618426
HP:0002094	Dyspnea	773	CACNA1A	ORPHA:2131
HP:0002094	Dyspnea	6507	SLC1A3	ORPHA:2131
HP:0002094	Dyspnea	477	ATP1A2	ORPHA:2131
HP:0002094	Dyspnea	478	ATP1A3	ORPHA:2131
HP:0002094	Dyspnea	81031	SLC2A10	ORPHA:3342
HP:0002094	Dyspnea	3675	ITGA3	OMIM:614748
HP:0002094	Dyspnea	2203	FBP1	ORPHA:348
HP:0002094	Dyspnea	166785	MMAA	OMIM:251100
HP:0002094	Dyspnea	4247	MGAT2	ORPHA:79329
HP:0002094	Dyspnea	8818	DPM2	OMIM:615042
HP:0002094	Dyspnea	8818	DPM2	ORPHA:329178
HP:0002094	Dyspnea	9321	TRIP11	OMIM:184260
HP:0002094	Dyspnea	9321	TRIP11	ORPHA:166272
HP:0002094	Dyspnea	2548	GAA	ORPHA:308552
HP:0002094	Dyspnea	51098	IFT52	OMIM:617102
HP:0002094	Dyspnea	7841	MOGS	ORPHA:79330
HP:0002094	Dyspnea	6231	RPS26	OMIM:613309
HP:0002094	Dyspnea	56975	FAM20C	ORPHA:1832
HP:0002094	Dyspnea	8314	BAP1	ORPHA:50251
HP:0002094	Dyspnea	5373	PMM2	ORPHA:79318
HP:0002094	Dyspnea	8813	DPM1	OMIM:608799
HP:0002094	Dyspnea	64135	IFIH1	OMIM:619773
HP:0002094	Dyspnea	22906	TRAK1	OMIM:618201
HP:0002094	Dyspnea	9147	NEMF	OMIM:619099
HP:0002094	Dyspnea	3977	LIFR	ORPHA:3206
HP:0002094	Dyspnea	50943	FOXP3	ORPHA:37042
HP:0002094	Dyspnea	2260	FGFR1	OMIM:166250
HP:0002094	Dyspnea	7994	KAT6A	OMIM:616268
HP:0002094	Dyspnea	7317	UBA1	ORPHA:1145
HP:0002094	Dyspnea	162417	NAGS	ORPHA:927
HP:0002094	Dyspnea	162417	NAGS	OMIM:237310
HP:0002094	Dyspnea	3458	IFNG	ORPHA:805
HP:0002094	Dyspnea	7248	TSC1	ORPHA:805
HP:0002094	Dyspnea	7249	TSC2	ORPHA:805
HP:0002094	Dyspnea	55681	SCYL2	ORPHA:1143
HP:0002094	Dyspnea	84570	COL25A1	ORPHA:1143
HP:0002094	Dyspnea	57222	ERGIC1	ORPHA:1143
HP:0002094	Dyspnea	4556	MT-TE	ORPHA:2596
HP:0002094	Dyspnea	4556	MT-TE	ORPHA:254864
HP:0002094	Dyspnea	81570	CLPB	OMIM:616271
HP:0002094	Dyspnea	51067	YARS2	OMIM:613561
HP:0002094	Dyspnea	1188	CLCNKB	ORPHA:358
HP:0002094	Dyspnea	6559	SLC12A3	ORPHA:358
HP:0002094	Dyspnea	51422	PRKAG2	OMIM:261740
HP:0002094	Dyspnea	4000	LMNA	OMIM:619793
HP:0002094	Dyspnea	7167	TPI1	OMIM:615512
HP:0002094	Dyspnea	10806	SDCCAG8	OMIM:615993
HP:0002094	Dyspnea	5396	PRRX1	OMIM:202650
HP:0002094	Dyspnea	5396	PRRX1	ORPHA:990
HP:0002094	Dyspnea	5250	SLC25A3	ORPHA:91130
HP:0002094	Dyspnea	7512	XPNPEP2	ORPHA:100057
HP:0002094	Dyspnea	112	ADCY6	ORPHA:2680
HP:0002094	Dyspnea	163175	LGI4	ORPHA:2680
HP:0002094	Dyspnea	8506	CNTNAP1	ORPHA:2680
HP:0002094	Dyspnea	5649	RELN	ORPHA:89844
HP:0002094	Dyspnea	10300	KATNB1	ORPHA:89844
HP:0002094	Dyspnea	54820	NDE1	ORPHA:89844
HP:0002094	Dyspnea	51119	SBDS	OMIM:260400
HP:0002094	Dyspnea	134218	DNAJC21	OMIM:260400
HP:0002094	Dyspnea	6729	SRP54	OMIM:260400
HP:0002094	Dyspnea	10229	COQ7	OMIM:616733
HP:0002094	Dyspnea	54931	TRMT10C	OMIM:616974
HP:0002094	Dyspnea	27185	DISC1	ORPHA:171703
HP:0002094	Dyspnea	8320	EOMES	ORPHA:171703
HP:0002094	Dyspnea	11093	ADAMTS13	OMIM:274150
HP:0002094	Dyspnea	3736	KCNA1	ORPHA:37612
HP:0002094	Dyspnea	710	SERPING1	ORPHA:100050
HP:0002094	Dyspnea	1760	DMPK	OMIM:160900
HP:0002094	Dyspnea	3417	IDH1	ORPHA:99646
HP:0002094	Dyspnea	7547	ZIC3	OMIM:306955
HP:0002094	Dyspnea	427	ASAH1	ORPHA:333
HP:0002094	Dyspnea	1439	CSF2RB	ORPHA:264675
HP:0002094	Dyspnea	1438	CSF2RA	ORPHA:264675
HP:0002094	Dyspnea	1145	CHRNE	OMIM:605809
HP:0002094	Dyspnea	7084	TK2	ORPHA:254875
HP:0002094	Dyspnea	6777	STAT5B	OMIM:245590
HP:0002094	Dyspnea	4998	ORC1	OMIM:224690
HP:0002094	Dyspnea	4998	ORC1	ORPHA:2554
HP:0002094	Dyspnea	7019	TFAM	OMIM:617156
HP:0002094	Dyspnea	4358	MPV17	OMIM:256810
HP:0002094	Dyspnea	686	BTD	ORPHA:79241
HP:0002094	Dyspnea	3141	HLCS	ORPHA:79242
HP:0002094	Dyspnea	81620	CDT1	ORPHA:2554
HP:0002094	Dyspnea	5000	ORC4	ORPHA:2554
HP:0002094	Dyspnea	23594	ORC6	ORPHA:2554
HP:0002094	Dyspnea	8318	CDC45	ORPHA:2554
HP:0002094	Dyspnea	990	CDC6	ORPHA:2554
HP:0002094	Dyspnea	51053	GMNN	ORPHA:2554
HP:0002094	Dyspnea	54539	NDUFB11	ORPHA:2556
HP:0002094	Dyspnea	1349	COX7B	ORPHA:2556
HP:0002094	Dyspnea	3052	HCCS	ORPHA:2556
HP:0002094	Dyspnea	22827	PUF60	ORPHA:508488
HP:0002094	Dyspnea	55687	TRMU	ORPHA:254864
HP:0002094	Dyspnea	7161	TP73	OMIM:619466
HP:0002094	Dyspnea	8802	SUCLG1	ORPHA:17
HP:0002094	Dyspnea	6638	SNRPN	ORPHA:177907
HP:0002094	Dyspnea	3868	KRT16	ORPHA:2309
HP:0002094	Dyspnea	3872	KRT17	ORPHA:2309
HP:0002094	Dyspnea	3853	KRT6A	ORPHA:2309
HP:0002094	Dyspnea	3854	KRT6B	ORPHA:2309
HP:0002094	Dyspnea	9343	EFTUD2	OMIM:610536
HP:0002094	Dyspnea	26040	SETBP1	ORPHA:798
HP:0002094	Dyspnea	326625	MMAB	OMIM:251110
HP:0002094	Dyspnea	9997	SCO2	OMIM:604377
HP:0002094	Dyspnea	9997	SCO2	ORPHA:70474
HP:0002094	Dyspnea	5015	OTX2	ORPHA:990
HP:0002094	Dyspnea	55975	KLHL7	OMIM:617055
HP:0002094	Dyspnea	5167	ENPP1	ORPHA:51608
HP:0002094	Dyspnea	368	ABCC6	ORPHA:51608
HP:0002094	Dyspnea	1387	CREBBP	OMIM:180849
HP:0002094	Dyspnea	2033	EP300	OMIM:180849
HP:0002094	Dyspnea	10382	TUBB4A	ORPHA:98805
HP:0002094	Dyspnea	56270	WDR45B	OMIM:617977
HP:0002094	Dyspnea	526	ATP6V1B2	ORPHA:79500
HP:0002094	Dyspnea	57465	TBC1D24	ORPHA:79500
HP:0002094	Dyspnea	25915	NDUFAF3	ORPHA:70474
HP:0002094	Dyspnea	4714	NDUFB8	ORPHA:70474
HP:0002094	Dyspnea	4720	NDUFS2	ORPHA:70474
HP:0002094	Dyspnea	2077	ERF	OMIM:617180
HP:0002094	Dyspnea	10585	POMT1	ORPHA:86812
HP:0002094	Dyspnea	3557	IL1RN	OMIM:612852
HP:0002094	Dyspnea	8292	COLQ	ORPHA:98915
HP:0002094	Dyspnea	3913	LAMB2	ORPHA:98915
HP:0002094	Dyspnea	126792	B3GALT6	ORPHA:536467
HP:0002094	Dyspnea	6748	SSR4	OMIM:300934
HP:0002094	Dyspnea	168667	BMPER	ORPHA:66637
HP:0002094	Dyspnea	168667	BMPER	OMIM:608022
HP:0002094	Dyspnea	25974	MMACHC	ORPHA:79282
HP:0002094	Dyspnea	2581	GALC	ORPHA:206436
HP:0002094	Dyspnea	5660	PSAP	ORPHA:206436
HP:0002094	Dyspnea	37	ACADVL	ORPHA:26793
HP:0002094	Dyspnea	129285	PPP1R21	OMIM:619383
HP:0002094	Dyspnea	2294	FOXF1	ORPHA:210122
HP:0002094	Dyspnea	51626	DYNC2LI1	OMIM:617088
HP:0002094	Dyspnea	50484	RRM2B	OMIM:612075
HP:0002094	Dyspnea	35	ACADS	ORPHA:26792
HP:0002094	Dyspnea	8449	DHX16	OMIM:618733
HP:0002094	Dyspnea	11342	RNF13	ORPHA:544503
HP:0002094	Dyspnea	871	SERPINH1	OMIM:613848
HP:0002094	Dyspnea	352909	DNAAF3	OMIM:606763
HP:0002094	Dyspnea	2108	ETFA	OMIM:231680
HP:0002094	Dyspnea	2109	ETFB	OMIM:231680
HP:0002094	Dyspnea	2110	ETFDH	OMIM:231680
HP:0002094	Dyspnea	65055	REEP1	OMIM:620011
HP:0002094	Dyspnea	6584	SLC22A5	OMIM:212140
HP:0002094	Dyspnea	3717	JAK2	OMIM:133100
HP:0002094	Dyspnea	10019	SH2B3	OMIM:133100
HP:0002094	Dyspnea	5428	POLG	ORPHA:254892
HP:0002094	Dyspnea	56652	TWNK	ORPHA:254892
HP:0002094	Dyspnea	11232	POLG2	ORPHA:254892
HP:0002094	Dyspnea	1727	CYB5R3	OMIM:250800
HP:0002094	Dyspnea	1727	CYB5R3	ORPHA:621
HP:0002094	Dyspnea	7414	VCL	OMIM:613255
HP:0002094	Dyspnea	84334	COA8	ORPHA:436271
HP:0002094	Dyspnea	63895	PIEZO2	OMIM:108145
HP:0002094	Dyspnea	1528	CYB5A	ORPHA:621
HP:0002094	Dyspnea	5339	PLEC	ORPHA:254361
HP:0002094	Dyspnea	10269	ZMPSTE24	ORPHA:740
HP:0002094	Dyspnea	5573	PRKAR1A	ORPHA:615
HP:0002094	Dyspnea	5573	PRKAR1A	ORPHA:520
HP:0002094	Dyspnea	34	ACADM	ORPHA:42
HP:0002094	Dyspnea	79572	ATP13A3	OMIM:265400
HP:0002094	Dyspnea	4625	MYH7	OMIM:255160
HP:0002094	Dyspnea	79991	STN1	ORPHA:2032
HP:0002094	Dyspnea	1832	DSP	ORPHA:2032
HP:0002094	Dyspnea	10144	FAM13A	ORPHA:2032
HP:0002094	Dyspnea	23250	ATP11A	ORPHA:2032
HP:0002094	Dyspnea	91039	DPP9	ORPHA:2032
HP:0002094	Dyspnea	51750	RTEL1	ORPHA:2032
HP:0002094	Dyspnea	5073	PARN	ORPHA:2032
HP:0002094	Dyspnea	4634	MYL3	OMIM:608751
HP:0002094	Dyspnea	5837	PYGM	ORPHA:368
HP:0002094	Dyspnea	6774	STAT3	ORPHA:520
HP:0002094	Dyspnea	5371	PML	ORPHA:520
HP:0002094	Dyspnea	5914	RARA	ORPHA:520
HP:0002094	Dyspnea	359948	IRF2BP2	ORPHA:520
HP:0002094	Dyspnea	81608	FIP1L1	ORPHA:520
HP:0002094	Dyspnea	4869	NPM1	ORPHA:520
HP:0002094	Dyspnea	54880	BCOR	ORPHA:520
HP:0002094	Dyspnea	64859	NABP1	ORPHA:520
HP:0002094	Dyspnea	4926	NUMA1	ORPHA:520
HP:0002094	Dyspnea	7704	ZBTB16	ORPHA:520
HP:0002094	Dyspnea	79718	TBL1XR1	ORPHA:520
HP:0002094	Dyspnea	2992	GYG1	ORPHA:263297
HP:0002094	Dyspnea	4703	NEB	ORPHA:399103
HP:0002094	Dyspnea	4535	MT-ND1	ORPHA:255210
HP:0002094	Dyspnea	4536	MT-ND2	ORPHA:255210
HP:0002094	Dyspnea	4537	MT-ND3	ORPHA:255210
HP:0002094	Dyspnea	4538	MT-ND4	ORPHA:255210
HP:0002094	Dyspnea	4567	MT-TL1	ORPHA:255210
HP:0002094	Dyspnea	4578	MT-TW	ORPHA:255210
HP:0002094	Dyspnea	4577	MT-TV	ORPHA:255210
HP:0002094	Dyspnea	4508	MT-ATP6	ORPHA:255210
HP:0002094	Dyspnea	4540	MT-ND5	ORPHA:255210
HP:0002094	Dyspnea	4541	MT-ND6	ORPHA:255210
HP:0002094	Dyspnea	4566	MT-TK	ORPHA:255210
HP:0002094	Dyspnea	60482	SLC5A7	ORPHA:98914
HP:0002094	Dyspnea	4649	MYO9A	ORPHA:98914
HP:0002094	Dyspnea	1305	COL13A1	ORPHA:98914
HP:0002094	Dyspnea	1103	CHAT	ORPHA:98914
HP:0002094	Dyspnea	6576	SLC25A1	ORPHA:98914
HP:0002094	Dyspnea	6843	VAMP1	ORPHA:98914
HP:0002094	Dyspnea	375790	AGRN	ORPHA:98914
HP:0002094	Dyspnea	127833	SYT2	ORPHA:98914
HP:0002094	Dyspnea	6572	SLC18A3	ORPHA:98914
HP:0002094	Dyspnea	6616	SNAP25	ORPHA:98914
HP:0002094	Dyspnea	4629	MYH11	ORPHA:229
HP:0002094	Dyspnea	4629	MYH11	ORPHA:91387
HP:0002094	Dyspnea	7046	TGFBR1	ORPHA:91387
HP:0002094	Dyspnea	7048	TGFBR2	ORPHA:91387
HP:0002094	Dyspnea	4015	LOX	ORPHA:91387
HP:0002094	Dyspnea	4087	SMAD2	ORPHA:91387
HP:0002094	Dyspnea	7043	TGFB3	ORPHA:91387
HP:0002094	Dyspnea	4088	SMAD3	ORPHA:91387
HP:0002094	Dyspnea	7042	TGFB2	ORPHA:91387
HP:0002094	Dyspnea	4089	SMAD4	ORPHA:91387
HP:0002094	Dyspnea	2200	FBN1	ORPHA:91387
HP:0002094	Dyspnea	59	ACTA2	ORPHA:91387
HP:0002094	Dyspnea	5592	PRKG1	ORPHA:91387
HP:0002094	Dyspnea	2301	FOXE3	ORPHA:91387
HP:0002094	Dyspnea	4144	MAT2A	ORPHA:91387
HP:0002094	Dyspnea	23493	HEY2	ORPHA:91387
HP:0002094	Dyspnea	8076	MFAP5	ORPHA:91387
HP:0002094	Dyspnea	4638	MYLK	ORPHA:91387
HP:0002094	Dyspnea	84705	GTPBP3	ORPHA:444013
HP:0002094	Dyspnea	1410	CRYAB	OMIM:608810
HP:0002094	Dyspnea	1134	CHRNA1	ORPHA:98913
HP:0002094	Dyspnea	4038	LRP4	ORPHA:98913
HP:0002094	Dyspnea	1140	CHRNB1	ORPHA:98913
HP:0002094	Dyspnea	1144	CHRND	ORPHA:98913
HP:0002094	Dyspnea	4593	MUSK	ORPHA:98913
HP:0002094	Dyspnea	5913	RAPSN	ORPHA:98913
HP:0002094	Dyspnea	221264	AK9	ORPHA:98913
HP:0002094	Dyspnea	285489	DOK7	ORPHA:98913
HP:0002094	Dyspnea	6440	SFTPC	ORPHA:70587
HP:0002094	Dyspnea	21	ABCA3	ORPHA:70587
HP:0002094	Dyspnea	6439	SFTPB	ORPHA:70587
HP:0002098	Respiratory distress	9131	AIFM1	ORPHA:238329
HP:0002098	Respiratory distress	4702	NDUFA8	OMIM:619272
HP:0002098	Respiratory distress	4594	MMUT	ORPHA:289916
HP:0002098	Respiratory distress	4594	MMUT	ORPHA:79312
HP:0002098	Respiratory distress	4594	MMUT	OMIM:251000
HP:0002098	Respiratory distress	23394	ADNP	ORPHA:404448
HP:0002098	Respiratory distress	28981	IFT81	OMIM:617895
HP:0002098	Respiratory distress	57128	LYRM4	OMIM:615595
HP:0002098	Respiratory distress	4574	MT-TS1	OMIM:220110
HP:0002098	Respiratory distress	4570	MT-TN	OMIM:220110
HP:0002098	Respiratory distress	6834	SURF1	OMIM:220110
HP:0002098	Respiratory distress	6834	SURF1	ORPHA:70474
HP:0002098	Respiratory distress	55503	TRPV6	OMIM:618188
HP:0002098	Respiratory distress	201595	STT3B	OMIM:615597
HP:0002098	Respiratory distress	201595	STT3B	ORPHA:370924
HP:0002098	Respiratory distress	2629	GBA1	OMIM:608013
HP:0002098	Respiratory distress	2629	GBA1	ORPHA:77260
HP:0002098	Respiratory distress	3909	LAMA3	ORPHA:79404
HP:0002098	Respiratory distress	3918	LAMC2	ORPHA:79404
HP:0002098	Respiratory distress	3914	LAMB3	ORPHA:79404
HP:0002098	Respiratory distress	10559	SLC35A1	ORPHA:238459
HP:0002098	Respiratory distress	2050	EPHB4	OMIM:617300
HP:0002098	Respiratory distress	65082	VPS33A	OMIM:617303
HP:0002098	Respiratory distress	65082	VPS33A	ORPHA:505248
HP:0002098	Respiratory distress	4137	MAPT	ORPHA:240085
HP:0002098	Respiratory distress	4137	MAPT	ORPHA:240103
HP:0002098	Respiratory distress	84466	MEGF10	OMIM:614399
HP:0002098	Respiratory distress	6662	SOX9	OMIM:114290
HP:0002098	Respiratory distress	1896	EDA	OMIM:305100
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:93260
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:93259
HP:0002098	Respiratory distress	2263	FGFR2	OMIM:123790
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:1555
HP:0002098	Respiratory distress	150094	SIK1	OMIM:616341
HP:0002098	Respiratory distress	29967	LRP12	OMIM:164310
HP:0002098	Respiratory distress	9570	GOSR2	OMIM:620166
HP:0002098	Respiratory distress	7080	NKX2-1	ORPHA:209905
HP:0002098	Respiratory distress	7080	NKX2-1	OMIM:610978
HP:0002098	Respiratory distress	79087	ALG12	OMIM:607143
HP:0002098	Respiratory distress	860	RUNX2	OMIM:119600
HP:0002098	Respiratory distress	23414	ZFPM2	ORPHA:2140
HP:0002098	Respiratory distress	9361	LONP1	ORPHA:2140
HP:0002098	Respiratory distress	2627	GATA6	ORPHA:2140
HP:0002098	Respiratory distress	2627	GATA6	ORPHA:2255
HP:0002098	Respiratory distress	5813	PURA	ORPHA:438216
HP:0002098	Respiratory distress	5813	PURA	ORPHA:314655
HP:0002098	Respiratory distress	388962	BOLA3	OMIM:614299
HP:0002098	Respiratory distress	6389	SDHA	OMIM:613642
HP:0002098	Respiratory distress	89910	UBE3B	ORPHA:2707
HP:0002098	Respiratory distress	1906	EDN1	ORPHA:137888
HP:0002098	Respiratory distress	5332	PLCB4	ORPHA:137888
HP:0002098	Respiratory distress	5332	PLCB4	OMIM:614669
HP:0002098	Respiratory distress	2773	GNAI3	ORPHA:137888
HP:0002098	Respiratory distress	113278	SLC52A3	OMIM:211530
HP:0002098	Respiratory distress	6234	RPS28	OMIM:606164
HP:0002098	Respiratory distress	4534	MTM1	ORPHA:596
HP:0002098	Respiratory distress	7840	ALMS1	ORPHA:64
HP:0002098	Respiratory distress	3572	IL6ST	OMIM:619751
HP:0002098	Respiratory distress	55768	NGLY1	OMIM:615273
HP:0002098	Respiratory distress	2261	FGFR3	OMIM:616482
HP:0002098	Respiratory distress	2261	FGFR3	OMIM:100800
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:151210
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:156550
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:183900
HP:0002098	Respiratory distress	4607	MYBPC3	OMIM:115197
HP:0002098	Respiratory distress	51660	MPC1	OMIM:614741
HP:0002098	Respiratory distress	8239	USP9X	ORPHA:480880
HP:0002098	Respiratory distress	8239	USP9X	OMIM:300968
HP:0002098	Respiratory distress	8021	NUP214	OMIM:618426
HP:0002098	Respiratory distress	773	CACNA1A	ORPHA:2131
HP:0002098	Respiratory distress	6507	SLC1A3	ORPHA:2131
HP:0002098	Respiratory distress	477	ATP1A2	ORPHA:2131
HP:0002098	Respiratory distress	478	ATP1A3	ORPHA:2131
HP:0002098	Respiratory distress	81031	SLC2A10	ORPHA:3342
HP:0002098	Respiratory distress	3675	ITGA3	OMIM:614748
HP:0002098	Respiratory distress	2203	FBP1	ORPHA:348
HP:0002098	Respiratory distress	166785	MMAA	OMIM:251100
HP:0002098	Respiratory distress	4247	MGAT2	ORPHA:79329
HP:0002098	Respiratory distress	8818	DPM2	OMIM:615042
HP:0002098	Respiratory distress	8818	DPM2	ORPHA:329178
HP:0002098	Respiratory distress	9321	TRIP11	OMIM:184260
HP:0002098	Respiratory distress	9321	TRIP11	ORPHA:166272
HP:0002098	Respiratory distress	2548	GAA	ORPHA:308552
HP:0002098	Respiratory distress	51098	IFT52	OMIM:617102
HP:0002098	Respiratory distress	7841	MOGS	ORPHA:79330
HP:0002098	Respiratory distress	6231	RPS26	OMIM:613309
HP:0002098	Respiratory distress	56975	FAM20C	ORPHA:1832
HP:0002098	Respiratory distress	8314	BAP1	ORPHA:50251
HP:0002098	Respiratory distress	5373	PMM2	ORPHA:79318
HP:0002098	Respiratory distress	8813	DPM1	OMIM:608799
HP:0002098	Respiratory distress	64135	IFIH1	OMIM:619773
HP:0002098	Respiratory distress	22906	TRAK1	OMIM:618201
HP:0002098	Respiratory distress	9147	NEMF	OMIM:619099
HP:0002098	Respiratory distress	3977	LIFR	ORPHA:3206
HP:0002098	Respiratory distress	50943	FOXP3	ORPHA:37042
HP:0002098	Respiratory distress	2260	FGFR1	OMIM:166250
HP:0002098	Respiratory distress	7994	KAT6A	OMIM:616268
HP:0002098	Respiratory distress	7317	UBA1	ORPHA:1145
HP:0002098	Respiratory distress	162417	NAGS	ORPHA:927
HP:0002098	Respiratory distress	162417	NAGS	OMIM:237310
HP:0002098	Respiratory distress	3458	IFNG	ORPHA:805
HP:0002098	Respiratory distress	7248	TSC1	ORPHA:805
HP:0002098	Respiratory distress	7249	TSC2	ORPHA:805
HP:0002098	Respiratory distress	55681	SCYL2	ORPHA:1143
HP:0002098	Respiratory distress	84570	COL25A1	ORPHA:1143
HP:0002098	Respiratory distress	57222	ERGIC1	ORPHA:1143
HP:0002098	Respiratory distress	4556	MT-TE	ORPHA:2596
HP:0002098	Respiratory distress	4556	MT-TE	ORPHA:254864
HP:0002098	Respiratory distress	81570	CLPB	OMIM:616271
HP:0002098	Respiratory distress	51067	YARS2	OMIM:613561
HP:0002098	Respiratory distress	1188	CLCNKB	ORPHA:358
HP:0002098	Respiratory distress	6559	SLC12A3	ORPHA:358
HP:0002098	Respiratory distress	51422	PRKAG2	OMIM:261740
HP:0002098	Respiratory distress	4000	LMNA	OMIM:619793
HP:0002098	Respiratory distress	7167	TPI1	OMIM:615512
HP:0002098	Respiratory distress	10806	SDCCAG8	OMIM:615993
HP:0002098	Respiratory distress	5396	PRRX1	OMIM:202650
HP:0002098	Respiratory distress	5396	PRRX1	ORPHA:990
HP:0002098	Respiratory distress	5250	SLC25A3	ORPHA:91130
HP:0002098	Respiratory distress	7512	XPNPEP2	ORPHA:100057
HP:0002098	Respiratory distress	112	ADCY6	ORPHA:2680
HP:0002098	Respiratory distress	163175	LGI4	ORPHA:2680
HP:0002098	Respiratory distress	8506	CNTNAP1	ORPHA:2680
HP:0002098	Respiratory distress	5649	RELN	ORPHA:89844
HP:0002098	Respiratory distress	10300	KATNB1	ORPHA:89844
HP:0002098	Respiratory distress	54820	NDE1	ORPHA:89844
HP:0002098	Respiratory distress	51119	SBDS	OMIM:260400
HP:0002098	Respiratory distress	134218	DNAJC21	OMIM:260400
HP:0002098	Respiratory distress	6729	SRP54	OMIM:260400
HP:0002098	Respiratory distress	10229	COQ7	OMIM:616733
HP:0002098	Respiratory distress	54931	TRMT10C	OMIM:616974
HP:0002098	Respiratory distress	27185	DISC1	ORPHA:171703
HP:0002098	Respiratory distress	8320	EOMES	ORPHA:171703
HP:0002098	Respiratory distress	11093	ADAMTS13	OMIM:274150
HP:0002098	Respiratory distress	3736	KCNA1	ORPHA:37612
HP:0002098	Respiratory distress	710	SERPING1	ORPHA:100050
HP:0002098	Respiratory distress	1760	DMPK	OMIM:160900
HP:0002098	Respiratory distress	3417	IDH1	ORPHA:99646
HP:0002098	Respiratory distress	7547	ZIC3	OMIM:306955
HP:0002098	Respiratory distress	427	ASAH1	ORPHA:333
HP:0002098	Respiratory distress	1439	CSF2RB	ORPHA:264675
HP:0002098	Respiratory distress	1438	CSF2RA	ORPHA:264675
HP:0002098	Respiratory distress	1145	CHRNE	OMIM:605809
HP:0002098	Respiratory distress	7084	TK2	ORPHA:254875
HP:0002098	Respiratory distress	6777	STAT5B	OMIM:245590
HP:0002098	Respiratory distress	4998	ORC1	OMIM:224690
HP:0002098	Respiratory distress	4998	ORC1	ORPHA:2554
HP:0002098	Respiratory distress	7019	TFAM	OMIM:617156
HP:0002098	Respiratory distress	4358	MPV17	OMIM:256810
HP:0002098	Respiratory distress	686	BTD	ORPHA:79241
HP:0002098	Respiratory distress	3141	HLCS	ORPHA:79242
HP:0002098	Respiratory distress	81620	CDT1	ORPHA:2554
HP:0002098	Respiratory distress	5000	ORC4	ORPHA:2554
HP:0002098	Respiratory distress	23594	ORC6	ORPHA:2554
HP:0002098	Respiratory distress	8318	CDC45	ORPHA:2554
HP:0002098	Respiratory distress	990	CDC6	ORPHA:2554
HP:0002098	Respiratory distress	51053	GMNN	ORPHA:2554
HP:0002098	Respiratory distress	54539	NDUFB11	ORPHA:2556
HP:0002098	Respiratory distress	1349	COX7B	ORPHA:2556
HP:0002098	Respiratory distress	3052	HCCS	ORPHA:2556
HP:0002098	Respiratory distress	22827	PUF60	ORPHA:508488
HP:0002098	Respiratory distress	55687	TRMU	ORPHA:254864
HP:0002098	Respiratory distress	7161	TP73	OMIM:619466
HP:0002098	Respiratory distress	8802	SUCLG1	ORPHA:17
HP:0002098	Respiratory distress	6638	SNRPN	ORPHA:177907
HP:0002098	Respiratory distress	3868	KRT16	ORPHA:2309
HP:0002098	Respiratory distress	3872	KRT17	ORPHA:2309
HP:0002098	Respiratory distress	3853	KRT6A	ORPHA:2309
HP:0002098	Respiratory distress	3854	KRT6B	ORPHA:2309
HP:0002098	Respiratory distress	9343	EFTUD2	OMIM:610536
HP:0002098	Respiratory distress	26040	SETBP1	ORPHA:798
HP:0002098	Respiratory distress	326625	MMAB	OMIM:251110
HP:0002098	Respiratory distress	9997	SCO2	OMIM:604377
HP:0002098	Respiratory distress	9997	SCO2	ORPHA:70474
HP:0002098	Respiratory distress	5015	OTX2	ORPHA:990
HP:0002098	Respiratory distress	55975	KLHL7	OMIM:617055
HP:0002098	Respiratory distress	5167	ENPP1	ORPHA:51608
HP:0002098	Respiratory distress	368	ABCC6	ORPHA:51608
HP:0002098	Respiratory distress	1387	CREBBP	OMIM:180849
HP:0002098	Respiratory distress	2033	EP300	OMIM:180849
HP:0002098	Respiratory distress	10382	TUBB4A	ORPHA:98805
HP:0002098	Respiratory distress	56270	WDR45B	OMIM:617977
HP:0002098	Respiratory distress	526	ATP6V1B2	ORPHA:79500
HP:0002098	Respiratory distress	57465	TBC1D24	ORPHA:79500
HP:0002098	Respiratory distress	25915	NDUFAF3	ORPHA:70474
HP:0002098	Respiratory distress	4714	NDUFB8	ORPHA:70474
HP:0002098	Respiratory distress	4720	NDUFS2	ORPHA:70474
HP:0002098	Respiratory distress	2077	ERF	OMIM:617180
HP:0002098	Respiratory distress	10585	POMT1	ORPHA:86812
HP:0002098	Respiratory distress	3557	IL1RN	OMIM:612852
HP:0002098	Respiratory distress	8292	COLQ	ORPHA:98915
HP:0002098	Respiratory distress	3913	LAMB2	ORPHA:98915
HP:0002098	Respiratory distress	126792	B3GALT6	ORPHA:536467
HP:0002098	Respiratory distress	6748	SSR4	OMIM:300934
HP:0002098	Respiratory distress	168667	BMPER	ORPHA:66637
HP:0002098	Respiratory distress	168667	BMPER	OMIM:608022
HP:0002098	Respiratory distress	25974	MMACHC	ORPHA:79282
HP:0002098	Respiratory distress	2581	GALC	ORPHA:206436
HP:0002098	Respiratory distress	5660	PSAP	ORPHA:206436
HP:0002098	Respiratory distress	37	ACADVL	ORPHA:26793
HP:0002098	Respiratory distress	129285	PPP1R21	OMIM:619383
HP:0002098	Respiratory distress	2294	FOXF1	ORPHA:210122
HP:0002098	Respiratory distress	51626	DYNC2LI1	OMIM:617088
HP:0002098	Respiratory distress	50484	RRM2B	OMIM:612075
HP:0002098	Respiratory distress	35	ACADS	ORPHA:26792
HP:0002098	Respiratory distress	8449	DHX16	OMIM:618733
HP:0002098	Respiratory distress	11342	RNF13	ORPHA:544503
HP:0002098	Respiratory distress	871	SERPINH1	OMIM:613848
HP:0002098	Respiratory distress	352909	DNAAF3	OMIM:606763
HP:0002098	Respiratory distress	2108	ETFA	OMIM:231680
HP:0002098	Respiratory distress	2109	ETFB	OMIM:231680
HP:0002098	Respiratory distress	2110	ETFDH	OMIM:231680
HP:0002098	Respiratory distress	65055	REEP1	OMIM:620011
HP:0002098	Respiratory distress	6584	SLC22A5	OMIM:212140
HP:0002098	Respiratory distress	4535	MT-ND1	ORPHA:255210
HP:0002098	Respiratory distress	4536	MT-ND2	ORPHA:255210
HP:0002098	Respiratory distress	4537	MT-ND3	ORPHA:255210
HP:0002098	Respiratory distress	4538	MT-ND4	ORPHA:255210
HP:0002098	Respiratory distress	4567	MT-TL1	ORPHA:255210
HP:0002098	Respiratory distress	4578	MT-TW	ORPHA:255210
HP:0002098	Respiratory distress	4577	MT-TV	ORPHA:255210
HP:0002098	Respiratory distress	4508	MT-ATP6	ORPHA:255210
HP:0002098	Respiratory distress	4540	MT-ND5	ORPHA:255210
HP:0002098	Respiratory distress	4541	MT-ND6	ORPHA:255210
HP:0002098	Respiratory distress	4566	MT-TK	ORPHA:255210
HP:0002098	Respiratory distress	60482	SLC5A7	ORPHA:98914
HP:0002098	Respiratory distress	4649	MYO9A	ORPHA:98914
HP:0002098	Respiratory distress	1305	COL13A1	ORPHA:98914
HP:0002098	Respiratory distress	1103	CHAT	ORPHA:98914
HP:0002098	Respiratory distress	6576	SLC25A1	ORPHA:98914
HP:0002098	Respiratory distress	6843	VAMP1	ORPHA:98914
HP:0002098	Respiratory distress	375790	AGRN	ORPHA:98914
HP:0002098	Respiratory distress	127833	SYT2	ORPHA:98914
HP:0002098	Respiratory distress	6572	SLC18A3	ORPHA:98914
HP:0002098	Respiratory distress	6616	SNAP25	ORPHA:98914
HP:0002098	Respiratory distress	6440	SFTPC	ORPHA:70587
HP:0002098	Respiratory distress	21	ABCA3	ORPHA:70587
HP:0002098	Respiratory distress	6439	SFTPB	ORPHA:70587
HP:0002099	Asthma	2811	GP1BA	ORPHA:274
HP:0002099	Asthma	2812	GP1BB	ORPHA:274
HP:0002099	Asthma	2812	GP1BB	ORPHA:567
HP:0002099	Asthma	2815	GP9	ORPHA:274
HP:0002099	Asthma	91754	NEK9	OMIM:614262
HP:0002099	Asthma	154	ADRB2	OMIM:600807
HP:0002099	Asthma	240	ALOX5	OMIM:600807
HP:0002099	Asthma	7941	PLA2G7	OMIM:600807
HP:0002099	Asthma	7941	PLA2G7	OMIM:147050
HP:0002099	Asthma	6356	CCL11	OMIM:600807
HP:0002099	Asthma	7124	TNF	OMIM:600807
HP:0002099	Asthma	3176	HNMT	OMIM:600807
HP:0002099	Asthma	4589	MUC7	OMIM:600807
HP:0002099	Asthma	117156	SCGB3A2	OMIM:600807
HP:0002099	Asthma	3135	HLA-G	OMIM:600807
HP:0002099	Asthma	3596	IL13	OMIM:600807
HP:0002099	Asthma	5238	PGM3	ORPHA:443811
HP:0002099	Asthma	5238	PGM3	OMIM:615816
HP:0002099	Asthma	987	LRBA	OMIM:614700
HP:0002099	Asthma	3981	LIG4	OMIM:606593
HP:0002099	Asthma	3981	LIG4	ORPHA:235
HP:0002099	Asthma	10999	SLC27A4	OMIM:608649
HP:0002099	Asthma	27125	AFF4	ORPHA:444077
HP:0002099	Asthma	1387	CREBBP	ORPHA:353281
HP:0002099	Asthma	1387	CREBBP	ORPHA:353277
HP:0002099	Asthma	9578	CDC42BPB	OMIM:619841
HP:0002099	Asthma	4010	LMX1B	ORPHA:495818
HP:0002099	Asthma	6812	STXBP1	ORPHA:495818
HP:0002099	Asthma	5184	PEPD	OMIM:170100
HP:0002099	Asthma	2782	GNB1	OMIM:616973
HP:0002099	Asthma	841	CASP8	OMIM:607271
HP:0002099	Asthma	4953	ODC1	ORPHA:544488
HP:0002099	Asthma	2033	EP300	ORPHA:353284
HP:0002099	Asthma	3716	JAK1	OMIM:618999
HP:0002099	Asthma	2260	FGFR1	ORPHA:280200
HP:0002099	Asthma	28514	DLL1	ORPHA:280200
HP:0002099	Asthma	2253	FGF8	ORPHA:280200
HP:0002099	Asthma	6496	SIX3	ORPHA:280200
HP:0002099	Asthma	7050	TGIF1	ORPHA:280200
HP:0002099	Asthma	4838	NODAL	ORPHA:280200
HP:0002099	Asthma	6469	SHH	ORPHA:280200
HP:0002099	Asthma	51684	SUFU	ORPHA:280200
HP:0002099	Asthma	7546	ZIC2	ORPHA:280200
HP:0002099	Asthma	2619	GAS1	ORPHA:280200
HP:0002099	Asthma	84976	DISP1	ORPHA:280200
HP:0002099	Asthma	2736	GLI2	ORPHA:280200
HP:0002099	Asthma	8928	FOXH1	ORPHA:280200
HP:0002099	Asthma	5727	PTCH1	ORPHA:280200
HP:0002099	Asthma	50937	CDON	ORPHA:280200
HP:0002099	Asthma	2212	FCGR2A	OMIM:219700
HP:0002099	Asthma	7040	TGFB1	OMIM:219700
HP:0002099	Asthma	7040	TGFB1	ORPHA:586
HP:0002099	Asthma	1080	CFTR	OMIM:219700
HP:0002099	Asthma	1080	CFTR	ORPHA:586
HP:0002099	Asthma	57589	RIC1	OMIM:618761
HP:0002099	Asthma	50615	IL21R	OMIM:147050
HP:0002099	Asthma	3566	IL4R	OMIM:147050
HP:0002099	Asthma	2206	MS4A2	OMIM:147050
HP:0002099	Asthma	84100	ARL6	OMIM:209900
HP:0002099	Asthma	79140	CCDC28B	OMIM:209900
HP:0002099	Asthma	582	BBS1	OMIM:209900
HP:0002099	Asthma	7840	ALMS1	OMIM:203800
HP:0002099	Asthma	7080	NKX2-1	ORPHA:209905
HP:0002099	Asthma	7080	NKX2-1	OMIM:610978
HP:0002099	Asthma	1312	COMT	ORPHA:567
HP:0002099	Asthma	221037	JMJD1C	ORPHA:567
HP:0002099	Asthma	6239	RREB1	ORPHA:567
HP:0002099	Asthma	6899	TBX1	ORPHA:567
HP:0002099	Asthma	6899	TBX1	OMIM:188400
HP:0002099	Asthma	7290	HIRA	ORPHA:567
HP:0002099	Asthma	9632	SEC24C	ORPHA:567
HP:0002099	Asthma	7353	UFD1	ORPHA:567
HP:0002099	Asthma	421	ARVCF	ORPHA:567
HP:0002099	Asthma	2068	ERCC2	OMIM:601675
HP:0002099	Asthma	64919	BCL11B	OMIM:618092
HP:0002099	Asthma	51428	DDX41	OMIM:616871
HP:0002099	Asthma	146206	CARMIL2	OMIM:618131
HP:0002099	Asthma	64127	NOD2	OMIM:617321
HP:0002099	Asthma	2475	MTOR	ORPHA:457485
HP:0002099	Asthma	93627	TBCK	ORPHA:488632
HP:0002099	Asthma	2783	GNB2	OMIM:619503
HP:0002099	Asthma	6785	ELOVL4	OMIM:614457
HP:0002099	Asthma	84701	COX4I2	OMIM:612714
HP:0002099	Asthma	54888	NSUN2	ORPHA:235
HP:0002099	Asthma	26160	IFT172	OMIM:619471
HP:0002099	Asthma	30009	TBX21	OMIM:619630
HP:0002099	Asthma	30009	TBX21	OMIM:208550
HP:0002099	Asthma	7874	USP7	ORPHA:500055
HP:0002099	Asthma	3572	IL6ST	OMIM:619752
HP:0002099	Asthma	3572	IL6ST	OMIM:619750
HP:0002099	Asthma	29775	CARD10	OMIM:619632
HP:0002099	Asthma	10526	IPO8	OMIM:619472
HP:0002099	Asthma	5732	PTGER2	OMIM:208550
HP:0002099	Asthma	5336	PLCG2	OMIM:614468
HP:0002099	Asthma	6329	SCN4A	ORPHA:99735
HP:0002099	Asthma	415	ARSL	ORPHA:79345
HP:0002099	Asthma	2312	FLG	OMIM:146700
HP:0002099	Asthma	1041	CDSN	OMIM:270300
HP:0002099	Asthma	79796	ALG9	ORPHA:79328
HP:0002099	Asthma	6804	STX1A	ORPHA:586
HP:0002099	Asthma	2947	GSTM3	ORPHA:586
HP:0002099	Asthma	2729	GCLC	ORPHA:586
HP:0002099	Asthma	1084	CEACAM3	ORPHA:586
HP:0002099	Asthma	6556	SLC11A1	ORPHA:586
HP:0002099	Asthma	51164	DCTN4	ORPHA:586
HP:0002099	Asthma	3783	KCNN4	ORPHA:586
HP:0002099	Asthma	4282	MIF	ORPHA:586
HP:0002099	Asthma	1909	EDNRA	ORPHA:586
HP:0002099	Asthma	6550	SLC9A3	ORPHA:586
HP:0002099	Asthma	3162	HMOX1	ORPHA:586
HP:0002099	Asthma	115019	SLC26A9	ORPHA:586
HP:0002099	Asthma	3077	HFE	ORPHA:586
HP:0002099	Asthma	11254	SLC6A14	ORPHA:586
HP:0002099	Asthma	5265	SERPINA1	ORPHA:586
HP:0002099	Asthma	22802	CLCA4	ORPHA:586
HP:0002099	Asthma	4680	CEACAM6	ORPHA:586
HP:0002099	Asthma	374879	ZNF699	OMIM:619488
HP:0002099	Asthma	5971	RELB	OMIM:617585
HP:0002099	Asthma	10293	TRAIP	OMIM:616777
HP:0002099	Asthma	3481	IGF2	ORPHA:397590
HP:0002099	Asthma	1028	CDKN1C	ORPHA:397590
HP:0002099	Asthma	5324	PLAG1	ORPHA:397590
HP:0002099	Asthma	8091	HMGA2	ORPHA:397590
HP:0002099	Asthma	11005	SPINK5	OMIM:256500
HP:0002099	Asthma	11005	SPINK5	ORPHA:634
HP:0002099	Asthma	55717	WDR11	OMIM:620237
HP:0002099	Asthma	6392	SDHD	ORPHA:100093
HP:0002099	Asthma	10551	AGR2	OMIM:620233
HP:0002099	Asthma	23387	SIK3	OMIM:618162
HP:0002099	Asthma	55898	UNC45A	OMIM:619377
HP:0002099	Asthma	79989	IFT56	OMIM:619534
HP:0002099	Asthma	3423	IDS	OMIM:309900
HP:0002099	Asthma	4791	NFKB2	OMIM:615577
HP:0002099	Asthma	3977	LIFR	ORPHA:3206
HP:0002099	Asthma	79977	GRHL2	OMIM:616029
HP:0002099	Asthma	100	ADA	OMIM:102700
HP:0002099	Asthma	2678	GGT1	OMIM:231950
HP:0002099	Asthma	738	VPS51	OMIM:618606
HP:0002099	Asthma	84433	CARD11	OMIM:617638
HP:0002099	Asthma	51322	WAC	ORPHA:466950
HP:0002099	Asthma	3514	IGKC	ORPHA:183675
HP:0002099	Asthma	3501	IGHG2	ORPHA:183675
HP:0002099	Asthma	81704	DOCK8	OMIM:243700
HP:0002099	Asthma	81704	DOCK8	ORPHA:217390
HP:0002099	Asthma	375056	MIA3	OMIM:619269
HP:0002099	Asthma	721	C4B	OMIM:614379
HP:0002099	Asthma	115948	ODAD3	OMIM:616037
HP:0002099	Asthma	5830	PEX5	OMIM:616716
HP:0002099	Asthma	6888	TALDO1	OMIM:606003
HP:0002099	Asthma	54914	FOCAD	OMIM:619991
HP:0009272	Aplasia/Hypoplasia of the 4th finger	6926	TBX3	OMIM:181450
HP:0009272	Aplasia/Hypoplasia of the 4th finger	1280	COL2A1	OMIM:271700
HP:0009272	Aplasia/Hypoplasia of the 4th finger	9241	NOG	OMIM:186500
HP:0009272	Aplasia/Hypoplasia of the 4th finger	8200	GDF5	OMIM:615072
HP:0009272	Aplasia/Hypoplasia of the 4th finger	2122	MECOM	OMIM:616738
HP:0009273	Deviation of the 4th finger	3549	IHH	OMIM:112500
HP:0009273	Deviation of the 4th finger	1301	COL11A1	OMIM:154780
HP:0009273	Deviation of the 4th finger	6638	SNRPN	ORPHA:177907
HP:0009273	Deviation of the 4th finger	3767	KCNJ11	ORPHA:79134
HP:0009273	Deviation of the 4th finger	79731	NARS2	ORPHA:79134
HP:0009273	Deviation of the 4th finger	6833	ABCC8	ORPHA:79134
HP:0009273	Deviation of the 4th finger	5293	PIK3CD	ORPHA:221139
HP:0009273	Deviation of the 4th finger	90417	KNSTRN	ORPHA:221139
HP:0009274	Joint contracture of the 4th finger	23291	FBXW11	OMIM:618914
HP:0009274	Joint contracture of the 4th finger	25942	SIN3A	OMIM:613406
HP:0009274	Joint contracture of the 4th finger	10765	KDM5B	OMIM:618109
HP:0009274	Joint contracture of the 4th finger	11011	TLK2	OMIM:618050
HP:0009274	Joint contracture of the 4th finger	6909	TBX2	OMIM:618223
HP:0009274	Joint contracture of the 4th finger	80816	ASXL3	OMIM:615485
HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	25942	SIN3A	OMIM:613406
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	10765	KDM5B	OMIM:618109
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	11011	TLK2	OMIM:618050
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	6909	TBX2	OMIM:618223
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	80816	ASXL3	OMIM:615485
HP:0009279	Radial deviation of the 4th finger	3549	IHH	OMIM:112500
HP:0009281	Aplasia of the 4th finger	6926	TBX3	OMIM:181450
HP:0009282	Abnormality of the distal phalanx of the 4th finger	1280	COL2A1	OMIM:271700
HP:0009283	Abnormality of the middle phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009283	Abnormality of the middle phalanx of the 4th finger	8200	GDF5	OMIM:615072
HP:0009283	Abnormality of the middle phalanx of the 4th finger	2122	MECOM	OMIM:616738
HP:0009284	Abnormality of the proximal phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	1280	COL2A1	OMIM:271700
HP:0009290	Short distal phalanx of the 4th finger	1280	COL2A1	OMIM:271700
HP:0009295	Short middle phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009295	Short middle phalanx of the 4th finger	8200	GDF5	OMIM:615072
HP:0009295	Short middle phalanx of the 4th finger	2122	MECOM	OMIM:616738
HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	8200	GDF5	OMIM:615072
HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	2122	MECOM	OMIM:616738
HP:0001274	Agenesis of corpus callosum	3476	IGBP1	OMIM:300472
HP:0001274	Agenesis of corpus callosum	3476	IGBP1	ORPHA:52055
HP:0001274	Agenesis of corpus callosum	11113	CIT	OMIM:617090
HP:0001274	Agenesis of corpus callosum	11113	CIT	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	7528	YY1	ORPHA:506358
HP:0001274	Agenesis of corpus callosum	23141	ANKLE2	OMIM:616681
HP:0001274	Agenesis of corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	23019	CNOT1	OMIM:618500
HP:0001274	Agenesis of corpus callosum	23019	CNOT1	ORPHA:556955
HP:0001274	Agenesis of corpus callosum	1024	CDK8	OMIM:618748
HP:0001274	Agenesis of corpus callosum	23556	PIGN	ORPHA:2059
HP:0001274	Agenesis of corpus callosum	81857	MED25	OMIM:616449
HP:0001274	Agenesis of corpus callosum	81857	MED25	ORPHA:464738
HP:0001274	Agenesis of corpus callosum	5361	PLXNA1	OMIM:619955
HP:0001274	Agenesis of corpus callosum	4774	NFIA	OMIM:613735
HP:0001274	Agenesis of corpus callosum	10992	SF3B2	OMIM:164210
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	OMIM:235730
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	ORPHA:261552
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	ORPHA:261537
HP:0001274	Agenesis of corpus callosum	2731	GLDC	OMIM:605899
HP:0001274	Agenesis of corpus callosum	275	AMT	OMIM:605899
HP:0001274	Agenesis of corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0001274	Agenesis of corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0001274	Agenesis of corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	57560	IFT80	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	57539	WDR35	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0001274	Agenesis of corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	4281	MID1	OMIM:300000
HP:0001274	Agenesis of corpus callosum	4281	MID1	ORPHA:2745
HP:0001274	Agenesis of corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0001274	Agenesis of corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0001274	Agenesis of corpus callosum	2073	ERCC5	OMIM:616570
HP:0001274	Agenesis of corpus callosum	116931	MED12L	OMIM:618872
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:200990
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:607131
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:614120
HP:0001274	Agenesis of corpus callosum	374654	KIF7	ORPHA:2189
HP:0001274	Agenesis of corpus callosum	374654	KIF7	ORPHA:166024
HP:0001274	Agenesis of corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0001274	Agenesis of corpus callosum	3020	H3-3A	OMIM:619720
HP:0001274	Agenesis of corpus callosum	170302	ARX	OMIM:300004
HP:0001274	Agenesis of corpus callosum	170302	ARX	OMIM:300215
HP:0001274	Agenesis of corpus callosum	170302	ARX	ORPHA:452
HP:0001274	Agenesis of corpus callosum	170302	ARX	ORPHA:2508
HP:0001274	Agenesis of corpus callosum	2737	GLI3	ORPHA:380
HP:0001274	Agenesis of corpus callosum	2737	GLI3	OMIM:175700
HP:0001274	Agenesis of corpus callosum	1630	DCC	OMIM:617542
HP:0001274	Agenesis of corpus callosum	1630	DCC	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	1630	DCC	OMIM:157600
HP:0001274	Agenesis of corpus callosum	6576	SLC25A1	OMIM:618197
HP:0001274	Agenesis of corpus callosum	23322	RPGRIP1L	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	4867	NPHP1	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	65062	TMEM237	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	22858	CILK1	OMIM:612651
HP:0001274	Agenesis of corpus callosum	25914	RTTN	OMIM:614833
HP:0001274	Agenesis of corpus callosum	25914	RTTN	ORPHA:468631
HP:0001274	Agenesis of corpus callosum	54806	AHI1	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	56623	INPP5E	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	153241	CEP120	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	54903	MKS1	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	54903	MKS1	OMIM:249000
HP:0001274	Agenesis of corpus callosum	95681	CEP41	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	80055	PGAP1	OMIM:615802
HP:0001274	Agenesis of corpus callosum	80055	PGAP1	ORPHA:401820
HP:0001274	Agenesis of corpus callosum	84197	POMK	OMIM:615249
HP:0001274	Agenesis of corpus callosum	84197	POMK	ORPHA:899
HP:0001274	Agenesis of corpus callosum	84197	POMK	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	10381	TUBB3	OMIM:614039
HP:0001274	Agenesis of corpus callosum	10381	TUBB3	OMIM:600638
HP:0001274	Agenesis of corpus callosum	26153	KIF26A	OMIM:620156
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:2396
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:147950
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:613001
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:615465
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	6496	SIX3	OMIM:269160
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6496	SIX3	OMIM:157170
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	6469	SHH	OMIM:269160
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	51684	SUFU	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	OMIM:610828
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	50937	CDON	OMIM:614226
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	ORPHA:87
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	OMIM:123790
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	OMIM:101200
HP:0001274	Agenesis of corpus callosum	56992	KIF15	ORPHA:261323
HP:0001274	Agenesis of corpus callosum	51360	MBTPS2	ORPHA:2273
HP:0001274	Agenesis of corpus callosum	284058	KANSL1	ORPHA:363958
HP:0001274	Agenesis of corpus callosum	284058	KANSL1	ORPHA:363965
HP:0001274	Agenesis of corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0001274	Agenesis of corpus callosum	347733	TUBB2B	OMIM:610031
HP:0001274	Agenesis of corpus callosum	1020	CDK5	OMIM:616342
HP:0001274	Agenesis of corpus callosum	23522	KAT6B	OMIM:606170
HP:0001274	Agenesis of corpus callosum	23522	KAT6B	ORPHA:85201
HP:0001274	Agenesis of corpus callosum	5173	PDYN	OMIM:610245
HP:0001274	Agenesis of corpus callosum	55681	SCYL2	OMIM:618766
HP:0001274	Agenesis of corpus callosum	3845	KRAS	ORPHA:2396
HP:0001274	Agenesis of corpus callosum	3845	KRAS	ORPHA:3339
HP:0001274	Agenesis of corpus callosum	2018	EMX2	OMIM:269160
HP:0001274	Agenesis of corpus callosum	546	ATRX	ORPHA:847
HP:0001274	Agenesis of corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0001274	Agenesis of corpus callosum	6597	SMARCA4	OMIM:614609
HP:0001274	Agenesis of corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	9401	RECQL4	OMIM:218600
HP:0001274	Agenesis of corpus callosum	4524	MTHFR	ORPHA:563612
HP:0001274	Agenesis of corpus callosum	57216	VANGL2	ORPHA:563612
HP:0001274	Agenesis of corpus callosum	171023	ASXL1	ORPHA:97297
HP:0001274	Agenesis of corpus callosum	171023	ASXL1	OMIM:605039
HP:0001274	Agenesis of corpus callosum	9896	FIG4	ORPHA:3472
HP:0001274	Agenesis of corpus callosum	9896	FIG4	OMIM:216340
HP:0001274	Agenesis of corpus callosum	55697	VAC14	ORPHA:3472
HP:0001274	Agenesis of corpus callosum	10815	CPLX1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	10815	CPLX1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	54872	PIGG	ORPHA:280
HP:0001274	Agenesis of corpus callosum	7469	NELFA	ORPHA:280
HP:0001274	Agenesis of corpus callosum	1487	CTBP1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	1487	CTBP1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	3954	LETM1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	3954	LETM1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	7468	NSD2	ORPHA:280
HP:0001274	Agenesis of corpus callosum	7468	NSD2	OMIM:194190
HP:0001274	Agenesis of corpus callosum	22872	SEC31A	OMIM:618651
HP:0001274	Agenesis of corpus callosum	57498	KIDINS220	OMIM:619501
HP:0001274	Agenesis of corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	51021	MRPS16	OMIM:610498
HP:0001274	Agenesis of corpus callosum	23007	PLCH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	10735	STAG2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	10735	STAG2	OMIM:301043
HP:0001274	Agenesis of corpus callosum	10735	STAG2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	79731	NARS2	OMIM:616239
HP:0001274	Agenesis of corpus callosum	6602	SMARCD1	OMIM:618779
HP:0001274	Agenesis of corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	55623	THUMPD1	OMIM:619989
HP:0001274	Agenesis of corpus callosum	53834	FGFRL1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	26227	PHGDH	OMIM:256520
HP:0001274	Agenesis of corpus callosum	2074	ERCC6	OMIM:214150
HP:0001274	Agenesis of corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0001274	Agenesis of corpus callosum	9653	HS2ST1	OMIM:619194
HP:0001274	Agenesis of corpus callosum	129563	DIS3L2	OMIM:267000
HP:0001274	Agenesis of corpus callosum	1947	EFNB1	OMIM:304110
HP:0001274	Agenesis of corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0001274	Agenesis of corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0001274	Agenesis of corpus callosum	1182	CLCN3	OMIM:619512
HP:0001274	Agenesis of corpus callosum	23512	SUZ12	OMIM:618786
HP:0001274	Agenesis of corpus callosum	6608	SMO	OMIM:601707
HP:0001274	Agenesis of corpus callosum	6608	SMO	ORPHA:1553
HP:0001274	Agenesis of corpus callosum	1349	COX7B	OMIM:309801
HP:0001274	Agenesis of corpus callosum	1349	COX7B	OMIM:300887
HP:0001274	Agenesis of corpus callosum	1349	COX7B	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	3052	HCCS	OMIM:309801
HP:0001274	Agenesis of corpus callosum	3052	HCCS	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	OMIM:309801
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	OMIM:300952
HP:0001274	Agenesis of corpus callosum	55773	TBC1D23	OMIM:617695
HP:0001274	Agenesis of corpus callosum	5626	PROP1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5626	PROP1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	89884	LHX4	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	89884	LHX4	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8022	LHX3	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5449	POU1F1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5449	POU1F1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8820	HESX1	OMIM:182230
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0001274	Agenesis of corpus callosum	5828	PEX2	OMIM:614866
HP:0001274	Agenesis of corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	2563	GABRD	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	23013	SPEN	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	23013	SPEN	OMIM:619312
HP:0001274	Agenesis of corpus callosum	8510	MMP23B	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	7798	LUZP1	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	6497	SKI	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	10630	PDPN	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	3339	HSPG2	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	10277	UBE4B	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	473	RERE	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	63976	PRDM16	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	54897	CASZ1	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	11128	POLR3A	OMIM:264090
HP:0001274	Agenesis of corpus callosum	11128	POLR3A	ORPHA:3455
HP:0001274	Agenesis of corpus callosum	6558	SLC12A2	OMIM:619083
HP:0001274	Agenesis of corpus callosum	10236	HNRNPR	OMIM:620073
HP:0001274	Agenesis of corpus callosum	4036	LRP2	OMIM:222448
HP:0001274	Agenesis of corpus callosum	3170	FOXA2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:990
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	83479	DDX59	ORPHA:2919
HP:0001274	Agenesis of corpus callosum	83479	DDX59	OMIM:174300
HP:0001274	Agenesis of corpus callosum	11041	B4GAT1	OMIM:615287
HP:0001274	Agenesis of corpus callosum	11041	B4GAT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	113179	ADAT3	OMIM:615286
HP:0001274	Agenesis of corpus callosum	113179	ADAT3	ORPHA:363528
HP:0001274	Agenesis of corpus callosum	9928	KIF14	OMIM:616258
HP:0001274	Agenesis of corpus callosum	9928	KIF14	OMIM:617914
HP:0001274	Agenesis of corpus callosum	9928	KIF14	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	8481	OFD1	OMIM:311200
HP:0001274	Agenesis of corpus callosum	8481	OFD1	ORPHA:2750
HP:0001274	Agenesis of corpus callosum	10472	ZBTB18	OMIM:612337
HP:0001274	Agenesis of corpus callosum	79633	FAT4	ORPHA:314679
HP:0001274	Agenesis of corpus callosum	8642	DCHS1	ORPHA:314679
HP:0001274	Agenesis of corpus callosum	57492	ARID1B	ORPHA:251056
HP:0001274	Agenesis of corpus callosum	57492	ARID1B	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0001274	Agenesis of corpus callosum	57688	ZSWIM6	ORPHA:1827
HP:0001274	Agenesis of corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0001274	Agenesis of corpus callosum	7846	TUBA1A	OMIM:611603
HP:0001274	Agenesis of corpus callosum	2271	FH	OMIM:606812
HP:0001274	Agenesis of corpus callosum	57724	EPG5	OMIM:242840
HP:0001274	Agenesis of corpus callosum	57724	EPG5	ORPHA:1493
HP:0001274	Agenesis of corpus callosum	63895	PIEZO2	OMIM:248700
HP:0001274	Agenesis of corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0001274	Agenesis of corpus callosum	2239	GPC4	ORPHA:373
HP:0001274	Agenesis of corpus callosum	2239	GPC4	OMIM:312870
HP:0001274	Agenesis of corpus callosum	2719	GPC3	ORPHA:373
HP:0001274	Agenesis of corpus callosum	2719	GPC3	OMIM:312870
HP:0001274	Agenesis of corpus callosum	197258	FCSK	OMIM:618324
HP:0001274	Agenesis of corpus callosum	10463	SLC30A9	OMIM:617595
HP:0001274	Agenesis of corpus callosum	8565	YARS1	OMIM:619418
HP:0001274	Agenesis of corpus callosum	2678	GGT1	OMIM:231950
HP:0001274	Agenesis of corpus callosum	64919	BCL11B	OMIM:617237
HP:0001274	Agenesis of corpus callosum	11023	VAX1	OMIM:614402
HP:0001274	Agenesis of corpus callosum	701	BUB1B	OMIM:257300
HP:0001274	Agenesis of corpus callosum	257	ALX3	OMIM:136760
HP:0001274	Agenesis of corpus callosum	51645	PPIL1	OMIM:619301
HP:0001274	Agenesis of corpus callosum	51362	CDC40	OMIM:619302
HP:0001274	Agenesis of corpus callosum	8621	CDK13	OMIM:617360
HP:0001274	Agenesis of corpus callosum	5881	RAC3	OMIM:618577
HP:0001274	Agenesis of corpus callosum	60529	ALX4	ORPHA:228390
HP:0001274	Agenesis of corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0001274	Agenesis of corpus callosum	80199	FUZ	ORPHA:1136
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	ORPHA:2466
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	OMIM:303350
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	OMIM:307000
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	ORPHA:2182
HP:0001274	Agenesis of corpus callosum	9851	KIAA0753	OMIM:617127
HP:0001274	Agenesis of corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0001274	Agenesis of corpus callosum	9990	SLC12A6	OMIM:218000
HP:0001274	Agenesis of corpus callosum	164	AP1G1	OMIM:619548
HP:0001274	Agenesis of corpus callosum	1801	DPH1	ORPHA:459061
HP:0001274	Agenesis of corpus callosum	22827	PUF60	ORPHA:508498
HP:0001274	Agenesis of corpus callosum	5888	RAD51	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	10126	DNAL4	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	9423	NTN1	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	4558	MT-TF	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4572	MT-TQ	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4512	MT-CO1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4513	MT-CO2	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4514	MT-CO3	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4578	MT-TW	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4540	MT-ND5	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4541	MT-ND6	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4535	MT-ND1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4538	MT-ND4	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4567	MT-TL1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4574	MT-TS1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4575	MT-TS2	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4564	MT-TH	ORPHA:550
HP:0001274	Agenesis of corpus callosum	56896	DPYSL5	OMIM:619435
HP:0001274	Agenesis of corpus callosum	2879	GPX4	ORPHA:93317
HP:0001274	Agenesis of corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0001274	Agenesis of corpus callosum	5396	PRRX1	OMIM:202650
HP:0001274	Agenesis of corpus callosum	5396	PRRX1	ORPHA:990
HP:0001274	Agenesis of corpus callosum	51807	TUBA8	ORPHA:250972
HP:0001274	Agenesis of corpus callosum	7545	ZIC1	OMIM:616602
HP:0001274	Agenesis of corpus callosum	7545	ZIC1	OMIM:618736
HP:0001274	Agenesis of corpus callosum	79813	EHMT1	ORPHA:96147
HP:0001274	Agenesis of corpus callosum	7473	WNT3	ORPHA:3301
HP:0001274	Agenesis of corpus callosum	340419	RSPO2	ORPHA:3301
HP:0001274	Agenesis of corpus callosum	8050	PDHX	ORPHA:255182
HP:0001274	Agenesis of corpus callosum	55593	OTUD5	OMIM:301056
HP:0001274	Agenesis of corpus callosum	7707	ZNF148	OMIM:617260
HP:0001274	Agenesis of corpus callosum	1436	CSF1R	OMIM:618476
HP:0001274	Agenesis of corpus callosum	5649	RELN	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	10300	KATNB1	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	54820	NDE1	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	54820	NDE1	OMIM:605013
HP:0001274	Agenesis of corpus callosum	54820	NDE1	OMIM:614019
HP:0001274	Agenesis of corpus callosum	23030	KDM4B	OMIM:619320
HP:0001274	Agenesis of corpus callosum	5160	PDHA1	OMIM:312170
HP:0001274	Agenesis of corpus callosum	5160	PDHA1	ORPHA:79243
HP:0001274	Agenesis of corpus callosum	3313	HSPA9	OMIM:616854
HP:0001274	Agenesis of corpus callosum	1806	DPYD	OMIM:274270
HP:0001274	Agenesis of corpus callosum	55215	FANCI	OMIM:609053
HP:0001274	Agenesis of corpus callosum	27185	DISC1	ORPHA:171703
HP:0001274	Agenesis of corpus callosum	8320	EOMES	ORPHA:171703
HP:0001274	Agenesis of corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0001274	Agenesis of corpus callosum	55997	CFC1	OMIM:605376
HP:0001274	Agenesis of corpus callosum	29954	POMT2	OMIM:236670
HP:0001274	Agenesis of corpus callosum	29954	POMT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	29954	POMT2	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	29954	POMT2	OMIM:613150
HP:0001274	Agenesis of corpus callosum	9215	LARGE1	OMIM:236670
HP:0001274	Agenesis of corpus callosum	9215	LARGE1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	79147	FKRP	OMIM:236670
HP:0001274	Agenesis of corpus callosum	79147	FKRP	ORPHA:899
HP:0001274	Agenesis of corpus callosum	79147	FKRP	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	79147	FKRP	OMIM:613153
HP:0001274	Agenesis of corpus callosum	10585	POMT1	OMIM:236670
HP:0001274	Agenesis of corpus callosum	10585	POMT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	10585	POMT1	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	2218	FKTN	OMIM:236670
HP:0001274	Agenesis of corpus callosum	2218	FKTN	ORPHA:899
HP:0001274	Agenesis of corpus callosum	2218	FKTN	OMIM:253800
HP:0001274	Agenesis of corpus callosum	84892	POMGNT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	1282	COL4A1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	729920	CRPPA	ORPHA:899
HP:0001274	Agenesis of corpus callosum	10329	RXYLT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	1605	DAG1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	55624	POMGNT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	55624	POMGNT1	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	6657	SOX2	ORPHA:77298
HP:0001274	Agenesis of corpus callosum	6657	SOX2	OMIM:206900
HP:0001274	Agenesis of corpus callosum	6657	SOX2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	4784	NFIX	OMIM:602535
HP:0001274	Agenesis of corpus callosum	63925	ZNF335	OMIM:615095
HP:0001274	Agenesis of corpus callosum	22930	RAB3GAP1	OMIM:600118
HP:0001274	Agenesis of corpus callosum	2657	GDF1	OMIM:208530
HP:0001274	Agenesis of corpus callosum	85358	SHANK3	ORPHA:48652
HP:0001274	Agenesis of corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6659	SOX4	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	8289	ARID1A	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	5977	DPF2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6601	SMARCC2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	196528	ARID2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6605	SMARCE1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6664	SOX11	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	5831	PYCR1	OMIM:612940
HP:0001274	Agenesis of corpus callosum	29920	PYCR2	ORPHA:481152
HP:0001274	Agenesis of corpus callosum	29920	PYCR2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1063	CENPF	OMIM:243605
HP:0001274	Agenesis of corpus callosum	9361	LONP1	ORPHA:79243
HP:0001274	Agenesis of corpus callosum	51608	GET4	OMIM:620200
HP:0001274	Agenesis of corpus callosum	1000	CDH2	OMIM:618929
HP:0001274	Agenesis of corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0001274	Agenesis of corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0001274	Agenesis of corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0001274	Agenesis of corpus callosum	1641	DCX	OMIM:300067
HP:0001274	Agenesis of corpus callosum	7161	TP73	OMIM:619466
HP:0001274	Agenesis of corpus callosum	2009	EML1	OMIM:600348
HP:0001274	Agenesis of corpus callosum	5395	PMS2	OMIM:619101
HP:0001274	Agenesis of corpus callosum	4990	SIX6	OMIM:206900
HP:0001274	Agenesis of corpus callosum	2313	FLI1	ORPHA:2308
HP:0001274	Agenesis of corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0001274	Agenesis of corpus callosum	60	ACTB	OMIM:243310
HP:0001274	Agenesis of corpus callosum	64840	PORCN	OMIM:305600
HP:0001274	Agenesis of corpus callosum	9791	PTDSS1	OMIM:151050
HP:0001274	Agenesis of corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0001274	Agenesis of corpus callosum	2290	FOXG1	ORPHA:261144
HP:0001274	Agenesis of corpus callosum	65250	CPLANE1	OMIM:277170
HP:0001274	Agenesis of corpus callosum	71	ACTG1	OMIM:614583
HP:0001274	Agenesis of corpus callosum	8092	ALX1	ORPHA:306542
HP:0001274	Agenesis of corpus callosum	28962	OSTM1	ORPHA:85179
HP:0001274	Agenesis of corpus callosum	348180	CTU2	OMIM:618142
HP:0001274	Agenesis of corpus callosum	57545	CC2D2A	OMIM:619111
HP:0001274	Agenesis of corpus callosum	145173	B3GLCT	OMIM:261540
HP:0001274	Agenesis of corpus callosum	1387	CREBBP	OMIM:180849
HP:0001274	Agenesis of corpus callosum	2033	EP300	OMIM:180849
HP:0001274	Agenesis of corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0001274	Agenesis of corpus callosum	9968	MED12	OMIM:309520
HP:0001274	Agenesis of corpus callosum	29925	GMPPB	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	5162	PDHB	ORPHA:255138
HP:0001274	Agenesis of corpus callosum	5162	PDHB	OMIM:614111
HP:0001274	Agenesis of corpus callosum	1718	DHCR24	ORPHA:35107
HP:0001274	Agenesis of corpus callosum	374879	ZNF699	OMIM:619488
HP:0001274	Agenesis of corpus callosum	55640	FLVCR2	OMIM:225790
HP:0001274	Agenesis of corpus callosum	91875	TTC5	OMIM:619244
HP:0001274	Agenesis of corpus callosum	80210	ARMC9	OMIM:617622
HP:0001274	Agenesis of corpus callosum	6299	SALL1	ORPHA:857
HP:0001274	Agenesis of corpus callosum	51339	DACT1	ORPHA:857
HP:0001274	Agenesis of corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0001274	Agenesis of corpus callosum	113246	C12orf57	OMIM:218340
HP:0001274	Agenesis of corpus callosum	1759	DNM1	OMIM:620352
HP:0001274	Agenesis of corpus callosum	80208	SPG11	OMIM:604360
HP:0001274	Agenesis of corpus callosum	55691	FRMD4A	ORPHA:466688
HP:0001274	Agenesis of corpus callosum	25782	RAB3GAP2	ORPHA:401830
HP:0001274	Agenesis of corpus callosum	1376	CPT2	OMIM:608836
HP:0001274	Agenesis of corpus callosum	1376	CPT2	ORPHA:228308
HP:0001274	Agenesis of corpus callosum	259266	ASPM	OMIM:608716
HP:0001274	Agenesis of corpus callosum	259266	ASPM	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	2177	FANCD2	OMIM:227646
HP:0001274	Agenesis of corpus callosum	652	BMP4	ORPHA:139471
HP:0001274	Agenesis of corpus callosum	84823	LMNB2	OMIM:616540
HP:0001274	Agenesis of corpus callosum	4781	NFIB	OMIM:618286
HP:0001274	Agenesis of corpus callosum	8243	SMC1A	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	8777	MPDZ	OMIM:615219
HP:0001274	Agenesis of corpus callosum	5430	POLR2A	OMIM:618603
HP:0001274	Agenesis of corpus callosum	124454	EARS2	OMIM:614924
HP:0001274	Agenesis of corpus callosum	219844	HYLS1	OMIM:236680
HP:0001274	Agenesis of corpus callosum	219844	HYLS1	ORPHA:2189
HP:0001274	Agenesis of corpus callosum	4292	MLH1	OMIM:276300
HP:0001274	Agenesis of corpus callosum	9276	COPB2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	22995	CEP152	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	284403	WDR62	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	55262	TRAPPC14	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	163786	SASS6	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	84879	MFSD2A	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	4176	MCM7	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	80254	CEP63	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	29081	METTL5	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	79648	MCPH1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1911	PHC1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	6884	TAF13	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	9662	CEP135	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	55835	CENPJ	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	57082	KNL1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1021	CDK6	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	18	ABAT	OMIM:613163
HP:0001274	Agenesis of corpus callosum	8449	DHX16	OMIM:618733
HP:0001274	Agenesis of corpus callosum	26123	TCTN3	OMIM:614815
HP:0001274	Agenesis of corpus callosum	128674	PROKR2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	6658	SOX3	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	9915	ARNT2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	26275	HIBCH	OMIM:250620
HP:0001274	Agenesis of corpus callosum	58499	ZNF462	OMIM:618619
HP:0001274	Agenesis of corpus callosum	2615	LRRC32	OMIM:619074
HP:0001274	Agenesis of corpus callosum	10128	LRPPRC	OMIM:220111
HP:0001274	Agenesis of corpus callosum	29899	GPSM2	OMIM:604213
HP:0001274	Agenesis of corpus callosum	10785	WDR4	OMIM:618346
HP:0001274	Agenesis of corpus callosum	26005	C2CD3	ORPHA:434179
HP:0001274	Agenesis of corpus callosum	26005	C2CD3	OMIM:615948
HP:0001274	Agenesis of corpus callosum	10765	KDM5B	OMIM:618109
HP:0001274	Agenesis of corpus callosum	6938	TCF12	OMIM:615314
HP:0001274	Agenesis of corpus callosum	11198	SUPT16H	OMIM:619480
HP:0001274	Agenesis of corpus callosum	136647	MPLKIP	OMIM:234050
HP:0001274	Agenesis of corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	10733	PLK4	OMIM:616171
HP:0001274	Agenesis of corpus callosum	1062	CENPE	OMIM:616051
HP:0001274	Agenesis of corpus callosum	4190	MDH1	OMIM:618959
HP:0001274	Agenesis of corpus callosum	139285	AMER1	OMIM:300373
HP:0001274	Agenesis of corpus callosum	7143	TNR	OMIM:619653
HP:0001274	Agenesis of corpus callosum	4123	MAN2C1	OMIM:619775
HP:0001274	Agenesis of corpus callosum	64324	NSD1	OMIM:117550
HP:0001274	Agenesis of corpus callosum	203068	TUBB	OMIM:615771
HP:0001274	Agenesis of corpus callosum	54916	TMEM260	OMIM:617478
HP:0001274	Agenesis of corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	833	CARS1	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2068	ERCC2	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	7737	RNF113A	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	6897	TARS1	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2071	ERCC3	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	1717	DHCR7	OMIM:270400
HP:0001274	Agenesis of corpus callosum	64432	MRPS25	OMIM:619025
HP:0001274	Agenesis of corpus callosum	10524	KAT5	OMIM:619103
HP:0006801	Hyperactive deep tendon reflexes	219285	SAMD9L	OMIM:159550
HP:0006801	Hyperactive deep tendon reflexes	10059	DNM1L	ORPHA:330050
HP:0006801	Hyperactive deep tendon reflexes	10159	ATP6AP2	ORPHA:363654
HP:0006801	Hyperactive deep tendon reflexes	56006	SMG9	OMIM:616920
HP:0006801	Hyperactive deep tendon reflexes	10273	STUB1	ORPHA:412057
HP:0006801	Hyperactive deep tendon reflexes	6389	SDHA	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	6390	SDHB	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	6392	SDHD	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	644096	SDHAF1	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	4361	MRE11	ORPHA:251347
HP:0006801	Hyperactive deep tendon reflexes	3748	KCNC3	ORPHA:98768
HP:0006801	Hyperactive deep tendon reflexes	1678	TIMM8A	ORPHA:52368
HP:0006801	Hyperactive deep tendon reflexes	5631	PRPS1	ORPHA:423479
HP:0006801	Hyperactive deep tendon reflexes	5621	PRNP	ORPHA:157941
HP:0006801	Hyperactive deep tendon reflexes	131669	UROC1	ORPHA:210128
HP:0006801	Hyperactive deep tendon reflexes	8492	PRSS12	OMIM:249500
HP:0006801	Hyperactive deep tendon reflexes	2581	GALC	OMIM:245200
HP:0006801	Hyperactive deep tendon reflexes	2581	GALC	ORPHA:206448
HP:0006801	Hyperactive deep tendon reflexes	4081	MAB21L1	OMIM:618479
HP:0006801	Hyperactive deep tendon reflexes	128989	TANGO2	OMIM:616878
HP:0006801	Hyperactive deep tendon reflexes	146227	BEAN1	ORPHA:217012
HP:0006801	Hyperactive deep tendon reflexes	6311	ATXN2	ORPHA:98756
HP:0006801	Hyperactive deep tendon reflexes	4204	MECP2	ORPHA:3077
HP:0006801	Hyperactive deep tendon reflexes	6513	SLC2A1	ORPHA:98811
HP:0006801	Hyperactive deep tendon reflexes	112476	PRRT2	ORPHA:98811
HP:0006801	Hyperactive deep tendon reflexes	2697	GJA1	OMIM:164200
HP:0006801	Hyperactive deep tendon reflexes	5376	PMP22	ORPHA:101081
HP:0006801	Hyperactive deep tendon reflexes	6310	ATXN1	ORPHA:98755
HP:0006802	Abnormal anterior horn cell morphology	23064	SETX	OMIM:602433
HP:0006802	Abnormal anterior horn cell morphology	427	ASAH1	OMIM:159950
HP:0006802	Abnormal anterior horn cell morphology	65250	CPLANE1	ORPHA:65684
HP:0006802	Abnormal anterior horn cell morphology	57562	CEP126	ORPHA:65684
HP:0006802	Abnormal anterior horn cell morphology	6606	SMN1	OMIM:253550
HP:0006802	Abnormal anterior horn cell morphology	6606	SMN1	OMIM:271150
HP:0006802	Abnormal anterior horn cell morphology	6606	SMN1	OMIM:253400
HP:0006802	Abnormal anterior horn cell morphology	11340	EXOSC8	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	5393	EXOSC9	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	23287	AGTPBP1	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	51010	EXOSC3	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	7443	VRK1	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	7443	VRK1	OMIM:607596
HP:0006802	Abnormal anterior horn cell morphology	91137	SLC25A46	ORPHA:2254
HP:0006802	Abnormal anterior horn cell morphology	10342	TFG	OMIM:604484
HP:0006802	Abnormal anterior horn cell morphology	6647	SOD1	OMIM:105400
HP:0006802	Abnormal anterior horn cell morphology	5630	PRPH	OMIM:105400
HP:0006802	Abnormal anterior horn cell morphology	1639	DCTN1	OMIM:105400
HP:0006802	Abnormal anterior horn cell morphology	4744	NEFH	OMIM:105400
HP:0006802	Abnormal anterior horn cell morphology	311	ANXA11	OMIM:617839
HP:0006802	Abnormal anterior horn cell morphology	4287	ATXN3	ORPHA:276244
HP:0006802	Abnormal anterior horn cell morphology	3508	IGHMBP2	OMIM:604320
HP:0006802	Abnormal anterior horn cell morphology	6607	SMN2	OMIM:253400
HP:0006802	Abnormal anterior horn cell morphology	2733	GLE1	OMIM:611890
HP:0006802	Abnormal anterior horn cell morphology	7317	UBA1	ORPHA:1145
HP:0007103	Hypointensity of cerebral white matter on MRI	158	ADSL	ORPHA:46
HP:0007103	Hypointensity of cerebral white matter on MRI	3735	KARS1	OMIM:619196
HP:0007103	Hypointensity of cerebral white matter on MRI	7319	UBE2A	OMIM:300860
HP:0007103	Hypointensity of cerebral white matter on MRI	7319	UBE2A	ORPHA:163956
HP:0007103	Hypointensity of cerebral white matter on MRI	3908	LAMA2	OMIM:607855
HP:0007103	Hypointensity of cerebral white matter on MRI	1890	TYMP	OMIM:603041
HP:0007103	Hypointensity of cerebral white matter on MRI	5428	POLG	OMIM:603041
HP:0007103	Hypointensity of cerebral white matter on MRI	2581	GALC	ORPHA:206436
HP:0007103	Hypointensity of cerebral white matter on MRI	5660	PSAP	ORPHA:206436
HP:0007103	Hypointensity of cerebral white matter on MRI	135	ADORA2A	ORPHA:363549
HP:0007103	Hypointensity of cerebral white matter on MRI	25939	SAMHD1	OMIM:612952
HP:0007103	Hypointensity of cerebral white matter on MRI	84340	GFM2	ORPHA:565624
HP:0007103	Hypointensity of cerebral white matter on MRI	2232	FDXR	ORPHA:543470
HP:0007103	Hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261537
HP:0007103	Hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261552
HP:0007103	Hypointensity of cerebral white matter on MRI	11277	TREX1	ORPHA:247691
HP:0007074	Thick corpus callosum	5296	PIK3R2	OMIM:603387
HP:0007074	Thick corpus callosum	8925	HERC1	ORPHA:457359
HP:0007074	Thick corpus callosum	8925	HERC1	OMIM:617011
HP:0007074	Thick corpus callosum	51256	TBC1D7	OMIM:248000
HP:0007074	Thick corpus callosum	4841	NONO	OMIM:300967
HP:0007074	Thick corpus callosum	22983	MAST1	OMIM:618273
HP:0007074	Thick corpus callosum	4849	CNOT3	OMIM:618672
HP:0007074	Thick corpus callosum	51780	KDM3B	OMIM:618846
HP:0007074	Thick corpus callosum	7283	TUBG1	OMIM:615412
HP:0007074	Thick corpus callosum	477	ATP1A2	OMIM:619605
HP:0007074	Thick corpus callosum	478	ATP1A3	OMIM:619606
HP:0007074	Thick corpus callosum	815	CAMK2A	OMIM:617798
HP:0007074	Thick corpus callosum	23334	SZT2	OMIM:615476
HP:0007074	Thick corpus callosum	4953	ODC1	ORPHA:544488
HP:0007074	Thick corpus callosum	894	CCND2	OMIM:615938
HP:0007074	Thick corpus callosum	54496	PRMT7	ORPHA:464288
HP:0007074	Thick corpus callosum	113246	C12orf57	OMIM:218340
HP:0007074	Thick corpus callosum	157680	VPS13B	OMIM:216550
HP:0001321	Cerebellar hypoplasia	10682	EBP	ORPHA:401973
HP:0001321	Cerebellar hypoplasia	10682	EBP	OMIM:300960
HP:0001321	Cerebellar hypoplasia	10682	EBP	OMIM:302960
HP:0001321	Cerebellar hypoplasia	3265	HRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	3845	KRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	4893	NRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	4893	NRAS	OMIM:249400
HP:0001321	Cerebellar hypoplasia	23556	PIGN	ORPHA:2059
HP:0001321	Cerebellar hypoplasia	7545	ZIC1	OMIM:616602
HP:0001321	Cerebellar hypoplasia	7545	ZIC1	OMIM:618736
HP:0001321	Cerebellar hypoplasia	84942	WDR73	OMIM:251300
HP:0001321	Cerebellar hypoplasia	57465	TBC1D24	OMIM:220500
HP:0001321	Cerebellar hypoplasia	57465	TBC1D24	ORPHA:79500
HP:0001321	Cerebellar hypoplasia	55636	CHD7	ORPHA:138
HP:0001321	Cerebellar hypoplasia	9723	SEMA3E	ORPHA:138
HP:0001321	Cerebellar hypoplasia	79068	FTO	OMIM:612938
HP:0001321	Cerebellar hypoplasia	57492	ARID1B	OMIM:135900
HP:0001321	Cerebellar hypoplasia	57492	ARID1B	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	3899	AFF3	OMIM:619297
HP:0001321	Cerebellar hypoplasia	6597	SMARCA4	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6597	SMARCA4	OMIM:614609
HP:0001321	Cerebellar hypoplasia	6659	SOX4	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	5977	DPF2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6601	SMARCC2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6602	SMARCD1	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	196528	ARID2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6664	SOX11	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	27315	PGAP2	OMIM:614207
HP:0001321	Cerebellar hypoplasia	157570	ESCO2	ORPHA:2319
HP:0001321	Cerebellar hypoplasia	1717	DHCR7	OMIM:270400
HP:0001321	Cerebellar hypoplasia	57096	RPGRIP1	ORPHA:564
HP:0001321	Cerebellar hypoplasia	79770	TXNDC15	ORPHA:564
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	OMIM:267010
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	OMIM:208540
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	ORPHA:3032
HP:0001321	Cerebellar hypoplasia	171023	ASXL1	ORPHA:97297
HP:0001321	Cerebellar hypoplasia	171023	ASXL1	OMIM:605039
HP:0001321	Cerebellar hypoplasia	9184	BUB3	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	699	BUB1	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	9702	CEP57	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	9319	TRIP13	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	84188	FAR1	ORPHA:438178
HP:0001321	Cerebellar hypoplasia	84188	FAR1	OMIM:616154
HP:0001321	Cerebellar hypoplasia	4927	NUP88	ORPHA:994
HP:0001321	Cerebellar hypoplasia	4654	MYOD1	ORPHA:994
HP:0001321	Cerebellar hypoplasia	5913	RAPSN	ORPHA:994
HP:0001321	Cerebellar hypoplasia	6572	SLC18A3	ORPHA:994
HP:0001321	Cerebellar hypoplasia	285489	DOK7	ORPHA:994
HP:0001321	Cerebellar hypoplasia	4534	MTM1	OMIM:310400
HP:0001321	Cerebellar hypoplasia	526	ATP6V1B2	ORPHA:79500
HP:0001321	Cerebellar hypoplasia	54880	BCOR	OMIM:300166
HP:0001321	Cerebellar hypoplasia	5500	PPP1CB	OMIM:617506
HP:0001321	Cerebellar hypoplasia	54676	GTPBP2	OMIM:617988
HP:0001321	Cerebellar hypoplasia	9897	WASHC5	OMIM:220210
HP:0001321	Cerebellar hypoplasia	9897	WASHC5	ORPHA:7
HP:0001321	Cerebellar hypoplasia	23007	PLCH1	OMIM:619895
HP:0001321	Cerebellar hypoplasia	2121	EVC	OMIM:225500
HP:0001321	Cerebellar hypoplasia	132884	EVC2	OMIM:225500
HP:0001321	Cerebellar hypoplasia	3798	KIF5A	OMIM:617235
HP:0001321	Cerebellar hypoplasia	1028	CDKN1C	OMIM:130650
HP:0001321	Cerebellar hypoplasia	10984	KCNQ1OT1	OMIM:130650
HP:0001321	Cerebellar hypoplasia	3481	IGF2	OMIM:130650
HP:0001321	Cerebellar hypoplasia	3784	KCNQ1	OMIM:130650
HP:0001321	Cerebellar hypoplasia	10195	ALG3	ORPHA:79321
HP:0001321	Cerebellar hypoplasia	27183	VPS4A	OMIM:619273
HP:0001321	Cerebellar hypoplasia	10128	LRPPRC	OMIM:220111
HP:0001321	Cerebellar hypoplasia	3912	LAMB1	OMIM:615191
HP:0001321	Cerebellar hypoplasia	54892	NCAPG2	OMIM:618460
HP:0001321	Cerebellar hypoplasia	60529	ALX4	OMIM:613451
HP:0001321	Cerebellar hypoplasia	4750	NEK1	OMIM:263520
HP:0001321	Cerebellar hypoplasia	23241	PACS2	OMIM:618067
HP:0001321	Cerebellar hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0001321	Cerebellar hypoplasia	26160	IFT172	OMIM:615630
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	OMIM:614424
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:475
HP:0001321	Cerebellar hypoplasia	55733	HHAT	OMIM:600092
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	OMIM:213300
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:475
HP:0001321	Cerebellar hypoplasia	8496	PPFIBP1	OMIM:620024
HP:0001321	Cerebellar hypoplasia	1605	DAG1	ORPHA:370997
HP:0001321	Cerebellar hypoplasia	1605	DAG1	OMIM:616538
HP:0001321	Cerebellar hypoplasia	4867	NPHP1	OMIM:609583
HP:0001321	Cerebellar hypoplasia	4867	NPHP1	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	64324	NSD1	ORPHA:821
HP:0001321	Cerebellar hypoplasia	29072	SETD2	ORPHA:821
HP:0001321	Cerebellar hypoplasia	10297	APC2	ORPHA:821
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	OMIM:216360
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	ORPHA:475
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	OMIM:610688
HP:0001321	Cerebellar hypoplasia	79848	CSPP1	ORPHA:397715
HP:0001321	Cerebellar hypoplasia	79848	CSPP1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0001321	Cerebellar hypoplasia	9786	KIAA0586	ORPHA:475
HP:0001321	Cerebellar hypoplasia	9786	KIAA0586	OMIM:616546
HP:0001321	Cerebellar hypoplasia	128869	PIGU	OMIM:618590
HP:0001321	Cerebellar hypoplasia	4983	OPHN1	OMIM:300486
HP:0001321	Cerebellar hypoplasia	4281	MID1	OMIM:300000
HP:0001321	Cerebellar hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0001321	Cerebellar hypoplasia	3020	H3-3A	OMIM:619720
HP:0001321	Cerebellar hypoplasia	219854	TMEM218	OMIM:619562
HP:0001321	Cerebellar hypoplasia	219854	TMEM218	ORPHA:475
HP:0001321	Cerebellar hypoplasia	473	RERE	OMIM:616975
HP:0001321	Cerebellar hypoplasia	473	RERE	ORPHA:494344
HP:0001321	Cerebellar hypoplasia	23322	RPGRIP1L	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	23322	RPGRIP1L	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	7280	TUBB2A	OMIM:615763
HP:0001321	Cerebellar hypoplasia	79644	SRD5A3	OMIM:612379
HP:0001321	Cerebellar hypoplasia	54806	AHI1	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	54806	AHI1	OMIM:608629
HP:0001321	Cerebellar hypoplasia	54806	AHI1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	153241	CEP120	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	153241	CEP120	ORPHA:475
HP:0001321	Cerebellar hypoplasia	54903	MKS1	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	54903	MKS1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	95681	CEP41	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	95681	CEP41	ORPHA:475
HP:0001321	Cerebellar hypoplasia	29968	PSAT1	OMIM:610992
HP:0001321	Cerebellar hypoplasia	29968	PSAT1	ORPHA:284417
HP:0001321	Cerebellar hypoplasia	10501	SEMA6B	OMIM:618876
HP:0001321	Cerebellar hypoplasia	80055	PGAP1	OMIM:615802
HP:0001321	Cerebellar hypoplasia	57082	KNL1	OMIM:604321
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	OMIM:611603
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	ORPHA:467166
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0001321	Cerebellar hypoplasia	9382	COG1	OMIM:611209
HP:0001321	Cerebellar hypoplasia	9382	COG1	ORPHA:263508
HP:0001321	Cerebellar hypoplasia	29925	GMPPB	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	79147	FKRP	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	29954	POMT2	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	29954	POMT2	OMIM:613156
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	10585	POMT1	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	10585	POMT1	OMIM:613155
HP:0001321	Cerebellar hypoplasia	55777	MBD5	OMIM:156200
HP:0001321	Cerebellar hypoplasia	347733	TUBB2B	ORPHA:467166
HP:0001321	Cerebellar hypoplasia	347733	TUBB2B	OMIM:610031
HP:0001321	Cerebellar hypoplasia	10381	TUBB3	ORPHA:467166
HP:0001321	Cerebellar hypoplasia	10381	TUBB3	ORPHA:300570
HP:0001321	Cerebellar hypoplasia	22930	RAB3GAP1	OMIM:600118
HP:0001321	Cerebellar hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	203068	TUBB	OMIM:615771
HP:0001321	Cerebellar hypoplasia	23545	ATP6V0A2	ORPHA:2834
HP:0001321	Cerebellar hypoplasia	1778	DYNC1H1	OMIM:614563
HP:0001321	Cerebellar hypoplasia	23090	ZNF423	OMIM:614844
HP:0001321	Cerebellar hypoplasia	23090	ZNF423	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	1801	DPH1	OMIM:616901
HP:0001321	Cerebellar hypoplasia	1801	DPH1	ORPHA:459061
HP:0001321	Cerebellar hypoplasia	80746	TSEN2	OMIM:612389
HP:0001321	Cerebellar hypoplasia	80746	TSEN2	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	22897	CEP164	OMIM:614845
HP:0001321	Cerebellar hypoplasia	54974	THG1L	OMIM:618800
HP:0001321	Cerebellar hypoplasia	93627	TBCK	OMIM:616900
HP:0001321	Cerebellar hypoplasia	1063	CENPF	OMIM:243605
HP:0001321	Cerebellar hypoplasia	79583	TMEM231	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	79583	TMEM231	ORPHA:2752
HP:0001321	Cerebellar hypoplasia	51524	TMEM138	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	80184	CEP290	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	51259	TMEM216	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	51259	TMEM216	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	OMIM:619111
HP:0001321	Cerebellar hypoplasia	23116	TOGARAM1	OMIM:619185
HP:0001321	Cerebellar hypoplasia	23116	TOGARAM1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	7703	PCGF2	OMIM:618371
HP:0001321	Cerebellar hypoplasia	80856	LNPK	OMIM:618090
HP:0001321	Cerebellar hypoplasia	23258	DENND5A	OMIM:617281
HP:0001321	Cerebellar hypoplasia	26278	SACS	ORPHA:98
HP:0001321	Cerebellar hypoplasia	9839	ZEB2	ORPHA:261552
HP:0001321	Cerebellar hypoplasia	9839	ZEB2	ORPHA:261537
HP:0001321	Cerebellar hypoplasia	79600	TCTN1	OMIM:614173
HP:0001321	Cerebellar hypoplasia	79600	TCTN1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	79042	TSEN34	OMIM:612390
HP:0001321	Cerebellar hypoplasia	79042	TSEN34	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	127833	SYT2	OMIM:619461
HP:0001321	Cerebellar hypoplasia	1822	ATN1	OMIM:618494
HP:0001321	Cerebellar hypoplasia	8550	MAPKAPK5	OMIM:619869
HP:0001321	Cerebellar hypoplasia	545	ATR	OMIM:210600
HP:0001321	Cerebellar hypoplasia	10352	WARS2	ORPHA:572798
HP:0001321	Cerebellar hypoplasia	26005	C2CD3	OMIM:615948
HP:0001321	Cerebellar hypoplasia	492	ATP2B3	ORPHA:314978
HP:0001321	Cerebellar hypoplasia	60386	SLC25A19	ORPHA:99742
HP:0001321	Cerebellar hypoplasia	60386	SLC25A19	OMIM:607196
HP:0001321	Cerebellar hypoplasia	5373	PMM2	OMIM:212065
HP:0001321	Cerebellar hypoplasia	5373	PMM2	ORPHA:79318
HP:0001321	Cerebellar hypoplasia	2296	FOXC1	OMIM:602482
HP:0001321	Cerebellar hypoplasia	2296	FOXC1	OMIM:601631
HP:0001321	Cerebellar hypoplasia	8241	RBM10	OMIM:311900
HP:0001321	Cerebellar hypoplasia	59336	PRDM13	OMIM:619909
HP:0001321	Cerebellar hypoplasia	51684	SUFU	ORPHA:475
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	OMIM:277170
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	200894	ARL13B	ORPHA:475
HP:0001321	Cerebellar hypoplasia	9731	CEP104	ORPHA:475
HP:0001321	Cerebellar hypoplasia	219844	HYLS1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	23247	KATNIP	ORPHA:475
HP:0001321	Cerebellar hypoplasia	23247	KATNIP	OMIM:616784
HP:0001321	Cerebellar hypoplasia	79867	TCTN2	ORPHA:475
HP:0001321	Cerebellar hypoplasia	80776	B9D2	ORPHA:475
HP:0001321	Cerebellar hypoplasia	10464	PIBF1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	80210	ARMC9	ORPHA:475
HP:0001321	Cerebellar hypoplasia	25776	CBY1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	27077	B9D1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	403	ARL3	ORPHA:475
HP:0001321	Cerebellar hypoplasia	403	ARL3	OMIM:618161
HP:0001321	Cerebellar hypoplasia	10804	GJB6	ORPHA:477
HP:0001321	Cerebellar hypoplasia	2706	GJB2	ORPHA:477
HP:0001321	Cerebellar hypoplasia	2615	LRRC32	OMIM:619074
HP:0001321	Cerebellar hypoplasia	4352	MPL	OMIM:604498
HP:0001321	Cerebellar hypoplasia	11340	EXOSC8	OMIM:616081
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	OMIM:619476
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	OMIM:617127
HP:0001321	Cerebellar hypoplasia	253738	EBF3	OMIM:617330
HP:0001321	Cerebellar hypoplasia	57187	THOC2	OMIM:300957
HP:0001321	Cerebellar hypoplasia	2892	GRIA3	ORPHA:364028
HP:0001321	Cerebellar hypoplasia	56006	SMG9	OMIM:616920
HP:0001321	Cerebellar hypoplasia	163786	SASS6	OMIM:616402
HP:0001321	Cerebellar hypoplasia	55280	CWF19L1	OMIM:616127
HP:0001321	Cerebellar hypoplasia	55280	CWF19L1	ORPHA:453521
HP:0001321	Cerebellar hypoplasia	29957	SLC25A24	OMIM:612289
HP:0001321	Cerebellar hypoplasia	4361	MRE11	ORPHA:251347
HP:0001321	Cerebellar hypoplasia	8239	USP9X	ORPHA:480880
HP:0001321	Cerebellar hypoplasia	51692	CPSF3	OMIM:619876
HP:0001321	Cerebellar hypoplasia	9289	ADGRG1	ORPHA:98889
HP:0001321	Cerebellar hypoplasia	9289	ADGRG1	ORPHA:101070
HP:0001321	Cerebellar hypoplasia	5297	PI4KA	ORPHA:98889
HP:0001321	Cerebellar hypoplasia	5297	PI4KA	OMIM:616531
HP:0001321	Cerebellar hypoplasia	27286	SRPX2	ORPHA:98889
HP:0001321	Cerebellar hypoplasia	5728	PTEN	ORPHA:101070
HP:0001321	Cerebellar hypoplasia	10236	HNRNPR	OMIM:620073
HP:0001321	Cerebellar hypoplasia	51611	DPH5	OMIM:620070
HP:0001321	Cerebellar hypoplasia	6872	TAF1	OMIM:300966
HP:0001321	Cerebellar hypoplasia	22983	MAST1	OMIM:618273
HP:0001321	Cerebellar hypoplasia	2232	FDXR	ORPHA:543470
HP:0001321	Cerebellar hypoplasia	90416	CCDC32	OMIM:619123
HP:0001321	Cerebellar hypoplasia	283989	TSEN54	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	116461	TSEN15	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	51091	SEPSECS	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	6121	RPE65	OMIM:204100
HP:0001321	Cerebellar hypoplasia	284217	LAMA1	OMIM:615960
HP:0001321	Cerebellar hypoplasia	5591	PRKDC	OMIM:615966
HP:0001321	Cerebellar hypoplasia	3708	ITPR1	OMIM:117360
HP:0001321	Cerebellar hypoplasia	57038	RARS2	OMIM:611523
HP:0001321	Cerebellar hypoplasia	54499	TMCO1	ORPHA:1394
HP:0001321	Cerebellar hypoplasia	79971	WLS	OMIM:619648
HP:0001321	Cerebellar hypoplasia	79633	FAT4	ORPHA:314679
HP:0001321	Cerebellar hypoplasia	8642	DCHS1	ORPHA:314679
HP:0001321	Cerebellar hypoplasia	55691	FRMD4A	OMIM:616819
HP:0001321	Cerebellar hypoplasia	55691	FRMD4A	ORPHA:466688
HP:0001321	Cerebellar hypoplasia	3187	HNRNPH1	OMIM:620083
HP:0001321	Cerebellar hypoplasia	57724	EPG5	OMIM:242840
HP:0001321	Cerebellar hypoplasia	57020	VPS35L	OMIM:619135
HP:0001321	Cerebellar hypoplasia	4123	MAN2C1	OMIM:619775
HP:0001321	Cerebellar hypoplasia	5879	RAC1	OMIM:617751
HP:0001321	Cerebellar hypoplasia	738	VPS51	OMIM:618606
HP:0001321	Cerebellar hypoplasia	8481	OFD1	OMIM:300804
HP:0001321	Cerebellar hypoplasia	8481	OFD1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	23499	MACF1	OMIM:618325
HP:0001321	Cerebellar hypoplasia	2806	GOT2	OMIM:618721
HP:0001321	Cerebellar hypoplasia	3954	LETM1	OMIM:620089
HP:0001321	Cerebellar hypoplasia	84081	NSRP1	OMIM:620001
HP:0001321	Cerebellar hypoplasia	5048	PAFAH1B1	ORPHA:95232
HP:0001321	Cerebellar hypoplasia	9939	RBM8A	OMIM:274000
HP:0001321	Cerebellar hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	22931	RAB18	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	10079	ATP9A	OMIM:620242
HP:0001321	Cerebellar hypoplasia	1376	CPT2	ORPHA:228308
HP:0001321	Cerebellar hypoplasia	10210	TOPORS	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	26123	TCTN3	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	5147	PDE6D	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	317662	FAM149B1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	374654	KIF7	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	9896	FIG4	OMIM:216340
HP:0001321	Cerebellar hypoplasia	23299	BICD2	OMIM:618291
HP:0001321	Cerebellar hypoplasia	129285	PPP1R21	OMIM:619383
HP:0001321	Cerebellar hypoplasia	79023	NUP37	OMIM:618179
HP:0001321	Cerebellar hypoplasia	8295	TRRAP	OMIM:618454
HP:0001321	Cerebellar hypoplasia	9181	ARHGEF2	OMIM:617523
HP:0001321	Cerebellar hypoplasia	2719	GPC3	OMIM:312870
HP:0001321	Cerebellar hypoplasia	2239	GPC4	OMIM:312870
HP:0001321	Cerebellar hypoplasia	55770	EXOC2	OMIM:619306
HP:0001321	Cerebellar hypoplasia	9230	RAB11B	OMIM:617807
HP:0001321	Cerebellar hypoplasia	8905	AP1S2	OMIM:304340
HP:0001321	Cerebellar hypoplasia	80816	ASXL3	ORPHA:352577
HP:0001321	Cerebellar hypoplasia	6095	RORA	OMIM:618060
HP:0001321	Cerebellar hypoplasia	11113	CIT	OMIM:617090
HP:0001321	Cerebellar hypoplasia	29899	GPSM2	OMIM:604213
HP:0001321	Cerebellar hypoplasia	11253	MAN1B1	ORPHA:397941
HP:0001321	Cerebellar hypoplasia	11253	MAN1B1	OMIM:614202
HP:0001321	Cerebellar hypoplasia	83700	JAM3	OMIM:613730
HP:0001321	Cerebellar hypoplasia	2972	BRF1	OMIM:616202
HP:0001321	Cerebellar hypoplasia	2972	BRF1	ORPHA:444072
HP:0001321	Cerebellar hypoplasia	55627	SMPD4	OMIM:618622
HP:0001321	Cerebellar hypoplasia	55325	UFSP2	OMIM:620028
HP:0001321	Cerebellar hypoplasia	1736	DKC1	OMIM:305000
HP:0001321	Cerebellar hypoplasia	1736	DKC1	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	5457	POU4F1	ORPHA:314647
HP:0001321	Cerebellar hypoplasia	23261	CAMTA1	ORPHA:314647
HP:0001321	Cerebellar hypoplasia	23261	CAMTA1	OMIM:614756
HP:0001321	Cerebellar hypoplasia	85300	ATCAY	ORPHA:94122
HP:0001321	Cerebellar hypoplasia	85300	ATCAY	OMIM:601238
HP:0001321	Cerebellar hypoplasia	57176	VARS2	OMIM:615917
HP:0001321	Cerebellar hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	57560	IFT80	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	57539	WDR35	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	80232	WDR26	ORPHA:513456
HP:0001321	Cerebellar hypoplasia	5932	RBBP8	OMIM:606744
HP:0001321	Cerebellar hypoplasia	2073	ERCC5	OMIM:616570
HP:0001321	Cerebellar hypoplasia	51506	UFC1	OMIM:618076
HP:0001321	Cerebellar hypoplasia	84892	POMGNT2	OMIM:614830
HP:0001321	Cerebellar hypoplasia	84892	POMGNT2	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10730	YME1L1	OMIM:617302
HP:0001321	Cerebellar hypoplasia	55690	PACS1	OMIM:615009
HP:0001321	Cerebellar hypoplasia	55690	PACS1	ORPHA:329224
HP:0001321	Cerebellar hypoplasia	6507	SLC1A3	OMIM:612656
HP:0001321	Cerebellar hypoplasia	51112	TRAPPC12	OMIM:617669
HP:0001321	Cerebellar hypoplasia	55780	ERMARD	ORPHA:75857
HP:0001321	Cerebellar hypoplasia	7015	TERT	OMIM:613989
HP:0001321	Cerebellar hypoplasia	7015	TERT	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	7015	TERT	OMIM:127550
HP:0001321	Cerebellar hypoplasia	271	AMPD2	OMIM:615809
HP:0001321	Cerebellar hypoplasia	51360	MBTPS2	ORPHA:2273
HP:0001321	Cerebellar hypoplasia	535	ATP6V0A1	OMIM:619971
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:613990
HP:0001321	Cerebellar hypoplasia	26277	TINF2	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:268130
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:127550
HP:0001321	Cerebellar hypoplasia	8913	CACNA1G	OMIM:618087
HP:0001321	Cerebellar hypoplasia	1020	CDK5	OMIM:616342
HP:0001321	Cerebellar hypoplasia	5119	CHMP1A	OMIM:614961
HP:0001321	Cerebellar hypoplasia	7436	VLDLR	OMIM:224050
HP:0001321	Cerebellar hypoplasia	6773	STAT2	OMIM:618886
HP:0001321	Cerebellar hypoplasia	8289	ARID1A	OMIM:614607
HP:0001321	Cerebellar hypoplasia	10939	AFG3L2	ORPHA:313772
HP:0001321	Cerebellar hypoplasia	6598	SMARCB1	OMIM:614608
HP:0001321	Cerebellar hypoplasia	157680	VPS13B	OMIM:216550
HP:0001321	Cerebellar hypoplasia	5354	PLP1	ORPHA:280210
HP:0001321	Cerebellar hypoplasia	55697	VAC14	ORPHA:3472
HP:0001321	Cerebellar hypoplasia	652	BMP4	OMIM:607932
HP:0001321	Cerebellar hypoplasia	57498	KIDINS220	OMIM:619501
HP:0001321	Cerebellar hypoplasia	23312	DMXL2	OMIM:616113
HP:0001321	Cerebellar hypoplasia	23312	DMXL2	ORPHA:453533
HP:0001321	Cerebellar hypoplasia	57231	SNX14	OMIM:616354
HP:0001321	Cerebellar hypoplasia	5073	PARN	OMIM:616353
HP:0001321	Cerebellar hypoplasia	5073	PARN	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	23036	ZNF292	OMIM:619188
HP:0001321	Cerebellar hypoplasia	84314	TMEM107	OMIM:617562
HP:0001321	Cerebellar hypoplasia	54872	PIGG	ORPHA:488635
HP:0001321	Cerebellar hypoplasia	54872	PIGG	OMIM:616917
HP:0001321	Cerebellar hypoplasia	55154	MSTO1	ORPHA:502423
HP:0001321	Cerebellar hypoplasia	4247	MGAT2	OMIM:212066
HP:0001321	Cerebellar hypoplasia	4247	MGAT2	ORPHA:79329
HP:0001321	Cerebellar hypoplasia	26227	PHGDH	OMIM:256520
HP:0001321	Cerebellar hypoplasia	2316	FLNA	ORPHA:90652
HP:0001321	Cerebellar hypoplasia	2316	FLNA	OMIM:300049
HP:0001321	Cerebellar hypoplasia	2074	ERCC6	OMIM:214150
HP:0001321	Cerebellar hypoplasia	23265	EXOC7	OMIM:619072
HP:0001321	Cerebellar hypoplasia	1798	DPAGT1	ORPHA:86309
HP:0001321	Cerebellar hypoplasia	1182	CLCN3	OMIM:619512
HP:0001321	Cerebellar hypoplasia	4593	MUSK	OMIM:208150
HP:0001321	Cerebellar hypoplasia	84879	MFSD2A	OMIM:616486
HP:0001321	Cerebellar hypoplasia	51604	PIGT	OMIM:615398
HP:0001321	Cerebellar hypoplasia	55773	TBC1D23	OMIM:617695
HP:0001321	Cerebellar hypoplasia	5828	PEX2	OMIM:614866
HP:0001321	Cerebellar hypoplasia	10013	HDAC6	ORPHA:163966
HP:0001321	Cerebellar hypoplasia	6134	RPL10	ORPHA:459070
HP:0001321	Cerebellar hypoplasia	6134	RPL10	OMIM:300998
HP:0001321	Cerebellar hypoplasia	55165	CEP55	OMIM:236500
HP:0001321	Cerebellar hypoplasia	5649	RELN	OMIM:257320
HP:0001321	Cerebellar hypoplasia	11128	POLR3A	ORPHA:447896
HP:0001321	Cerebellar hypoplasia	11128	POLR3A	ORPHA:3455
HP:0001321	Cerebellar hypoplasia	5605	MAP2K2	OMIM:615280
HP:0001321	Cerebellar hypoplasia	4644	MYO5A	ORPHA:33445
HP:0001321	Cerebellar hypoplasia	79813	EHMT1	ORPHA:261652
HP:0001321	Cerebellar hypoplasia	58508	KMT2C	ORPHA:261652
HP:0001321	Cerebellar hypoplasia	8818	DPM2	OMIM:615042
HP:0001321	Cerebellar hypoplasia	8818	DPM2	ORPHA:329178
HP:0001321	Cerebellar hypoplasia	8733	GPAA1	ORPHA:529665
HP:0001321	Cerebellar hypoplasia	8733	GPAA1	OMIM:617810
HP:0001321	Cerebellar hypoplasia	11041	B4GAT1	OMIM:615287
HP:0001321	Cerebellar hypoplasia	11041	B4GAT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	9474	ATG5	OMIM:617584
HP:0001321	Cerebellar hypoplasia	9928	KIF14	OMIM:616258
HP:0001321	Cerebellar hypoplasia	9928	KIF14	OMIM:617914
HP:0001321	Cerebellar hypoplasia	5340	PLG	OMIM:217090
HP:0001321	Cerebellar hypoplasia	6605	SMARCE1	OMIM:616938
HP:0001321	Cerebellar hypoplasia	7443	VRK1	OMIM:607596
HP:0001321	Cerebellar hypoplasia	2683	B4GALT1	ORPHA:79332
HP:0001321	Cerebellar hypoplasia	51085	MLXIPL	OMIM:194050
HP:0001321	Cerebellar hypoplasia	2006	ELN	OMIM:194050
HP:0001321	Cerebellar hypoplasia	51322	WAC	ORPHA:284169
HP:0001321	Cerebellar hypoplasia	63895	PIEZO2	OMIM:248700
HP:0001321	Cerebellar hypoplasia	63895	PIEZO2	ORPHA:2461
HP:0001321	Cerebellar hypoplasia	8573	CASK	ORPHA:163937
HP:0001321	Cerebellar hypoplasia	8573	CASK	OMIM:300749
HP:0001321	Cerebellar hypoplasia	23162	MAPK8IP3	OMIM:618443
HP:0001321	Cerebellar hypoplasia	7355	SLC35A2	OMIM:300896
HP:0001321	Cerebellar hypoplasia	55120	FANCL	OMIM:614083
HP:0001321	Cerebellar hypoplasia	125988	MICOS13	OMIM:618329
HP:0001321	Cerebellar hypoplasia	10735	STAG2	ORPHA:521258
HP:0001321	Cerebellar hypoplasia	729920	CRPPA	OMIM:614643
HP:0001321	Cerebellar hypoplasia	729920	CRPPA	ORPHA:899
HP:0001321	Cerebellar hypoplasia	2146	EZH2	OMIM:277590
HP:0001321	Cerebellar hypoplasia	29929	ALG6	ORPHA:79320
HP:0001321	Cerebellar hypoplasia	51750	RTEL1	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	51750	RTEL1	OMIM:615190
HP:0001321	Cerebellar hypoplasia	65057	ACD	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	65057	ACD	OMIM:616553
HP:0001321	Cerebellar hypoplasia	79087	ALG12	ORPHA:79324
HP:0001321	Cerebellar hypoplasia	701	BUB1B	OMIM:257300
HP:0001321	Cerebellar hypoplasia	3897	L1CAM	OMIM:304100
HP:0001321	Cerebellar hypoplasia	3897	L1CAM	ORPHA:1497
HP:0001321	Cerebellar hypoplasia	148789	B3GALNT2	OMIM:615181
HP:0001321	Cerebellar hypoplasia	148789	B3GALNT2	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10533	ATG7	OMIM:619422
HP:0001321	Cerebellar hypoplasia	51645	PPIL1	OMIM:619301
HP:0001321	Cerebellar hypoplasia	6576	SLC25A1	OMIM:615182
HP:0001321	Cerebellar hypoplasia	51362	CDC40	OMIM:619302
HP:0001321	Cerebellar hypoplasia	91137	SLC25A46	OMIM:619303
HP:0001321	Cerebellar hypoplasia	51117	COQ4	OMIM:616276
HP:0001321	Cerebellar hypoplasia	256297	PTF1A	ORPHA:65288
HP:0001321	Cerebellar hypoplasia	256297	PTF1A	OMIM:609069
HP:0001321	Cerebellar hypoplasia	55656	INTS8	OMIM:618572
HP:0001321	Cerebellar hypoplasia	10243	GPHN	OMIM:615501
HP:0001321	Cerebellar hypoplasia	51013	EXOSC1	OMIM:619304
HP:0001321	Cerebellar hypoplasia	2263	FGFR2	OMIM:101200
HP:0001321	Cerebellar hypoplasia	2263	FGFR2	ORPHA:207
HP:0001321	Cerebellar hypoplasia	2261	FGFR3	OMIM:187601
HP:0001321	Cerebellar hypoplasia	2737	GLI3	ORPHA:672
HP:0001321	Cerebellar hypoplasia	1281	COL3A1	OMIM:618343
HP:0001321	Cerebellar hypoplasia	30000	TNPO2	OMIM:619556
HP:0001321	Cerebellar hypoplasia	56896	DPYSL5	OMIM:619435
HP:0001321	Cerebellar hypoplasia	160418	TMTC3	OMIM:617255
HP:0001321	Cerebellar hypoplasia	2187	FANCB	OMIM:300514
HP:0001321	Cerebellar hypoplasia	2879	GPX4	ORPHA:93317
HP:0001321	Cerebellar hypoplasia	124997	WDR81	OMIM:610185
HP:0001321	Cerebellar hypoplasia	124997	WDR81	OMIM:617967
HP:0001321	Cerebellar hypoplasia	4838	NODAL	OMIM:270100
HP:0001321	Cerebellar hypoplasia	55593	OTUD5	OMIM:301056
HP:0001321	Cerebellar hypoplasia	10733	PLK4	OMIM:616171
HP:0001321	Cerebellar hypoplasia	1436	CSF1R	OMIM:618476
HP:0001321	Cerebellar hypoplasia	1062	CENPE	OMIM:616051
HP:0001321	Cerebellar hypoplasia	6651	SON	OMIM:617140
HP:0001321	Cerebellar hypoplasia	84162	BLTP1	OMIM:617822
HP:0001321	Cerebellar hypoplasia	998	CDC42	OMIM:616737
HP:0001321	Cerebellar hypoplasia	10273	STUB1	OMIM:615768
HP:0001321	Cerebellar hypoplasia	10273	STUB1	ORPHA:412057
HP:0001321	Cerebellar hypoplasia	4081	MAB21L1	OMIM:618479
HP:0001321	Cerebellar hypoplasia	27185	DISC1	ORPHA:171703
HP:0001321	Cerebellar hypoplasia	8320	EOMES	ORPHA:171703
HP:0001321	Cerebellar hypoplasia	7012	TERC	OMIM:127550
HP:0001321	Cerebellar hypoplasia	54820	NDE1	OMIM:605013
HP:0001321	Cerebellar hypoplasia	54820	NDE1	OMIM:614019
HP:0001321	Cerebellar hypoplasia	64221	ROBO3	OMIM:607313
HP:0001321	Cerebellar hypoplasia	2067	ERCC1	OMIM:610758
HP:0001321	Cerebellar hypoplasia	2218	FKTN	OMIM:236670
HP:0001321	Cerebellar hypoplasia	2218	FKTN	ORPHA:899
HP:0001321	Cerebellar hypoplasia	2218	FKTN	OMIM:253800
HP:0001321	Cerebellar hypoplasia	1282	COL4A1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10329	RXYLT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	7547	ZIC3	OMIM:306955
HP:0001321	Cerebellar hypoplasia	4784	NFIX	OMIM:602535
HP:0001321	Cerebellar hypoplasia	4784	NFIX	ORPHA:561
HP:0001321	Cerebellar hypoplasia	8925	HERC1	ORPHA:457359
HP:0001321	Cerebellar hypoplasia	84340	GFM2	ORPHA:565624
HP:0001321	Cerebellar hypoplasia	23221	RHOBTB2	OMIM:618004
HP:0001321	Cerebellar hypoplasia	79641	ROGDI	OMIM:226750
HP:0001321	Cerebellar hypoplasia	11274	USP18	OMIM:617397
HP:0001321	Cerebellar hypoplasia	26007	TKFC	OMIM:618805
HP:0001321	Cerebellar hypoplasia	267010	RNU12	OMIM:620208
HP:0001321	Cerebellar hypoplasia	2077	ERF	ORPHA:207
HP:0001321	Cerebellar hypoplasia	23203	PMPCA	OMIM:213200
HP:0001321	Cerebellar hypoplasia	6821	SUOX	OMIM:272300
HP:0001321	Cerebellar hypoplasia	191	AHCY	ORPHA:88618
HP:0001321	Cerebellar hypoplasia	6712	SPTBN2	OMIM:600224
HP:0001321	Cerebellar hypoplasia	5277	PIGA	OMIM:300868
HP:0001321	Cerebellar hypoplasia	4700	NDUFA6	OMIM:618253
HP:0001321	Cerebellar hypoplasia	3188	HNRNPH2	OMIM:300986
HP:0001321	Cerebellar hypoplasia	83696	TRAPPC9	ORPHA:352530
HP:0001321	Cerebellar hypoplasia	2260	FGFR1	OMIM:613001
HP:0001321	Cerebellar hypoplasia	55210	ATAD3A	OMIM:618810
HP:0001321	Cerebellar hypoplasia	64374	SIL1	ORPHA:559
HP:0001321	Cerebellar hypoplasia	51763	INPP5K	ORPHA:559
HP:0001321	Cerebellar hypoplasia	57572	DOCK6	OMIM:614219
HP:0001321	Cerebellar hypoplasia	80347	COASY	OMIM:618266
HP:0001321	Cerebellar hypoplasia	340075	ARSI	ORPHA:401815
HP:0001321	Cerebellar hypoplasia	57003	CCDC47	OMIM:618268
HP:0001321	Cerebellar hypoplasia	112858	TP53RK	OMIM:617730
HP:0001321	Cerebellar hypoplasia	27107	ZBTB11	OMIM:618383
HP:0001321	Cerebellar hypoplasia	7737	RNF113A	OMIM:300953
HP:0001321	Cerebellar hypoplasia	3839	KPNA3	OMIM:620106
HP:0001321	Cerebellar hypoplasia	92935	MARS2	ORPHA:314603
HP:0001321	Cerebellar hypoplasia	5162	PDHB	ORPHA:255138
HP:0001321	Cerebellar hypoplasia	4841	NONO	OMIM:300967
HP:0001321	Cerebellar hypoplasia	4841	NONO	ORPHA:466791
HP:0001321	Cerebellar hypoplasia	51124	IER3IP1	OMIM:614231
HP:0001321	Cerebellar hypoplasia	55640	FLVCR2	OMIM:225790
HP:0001321	Cerebellar hypoplasia	28952	CCDC22	OMIM:300963
HP:0001321	Cerebellar hypoplasia	202018	TAPT1	OMIM:616897
HP:0001321	Cerebellar hypoplasia	55164	SHQ1	OMIM:619922
HP:0001321	Cerebellar hypoplasia	7291	TWIST1	OMIM:617746
HP:0001321	Cerebellar hypoplasia	100506658	OCLN	OMIM:251290
HP:0001321	Cerebellar hypoplasia	93587	TRMT10A	ORPHA:391408
HP:0001321	Cerebellar hypoplasia	84919	PPP1R15B	ORPHA:391408
HP:0001321	Cerebellar hypoplasia	259266	ASPM	OMIM:608716
HP:0001321	Cerebellar hypoplasia	523	ATP6V1A	ORPHA:357074
HP:0001321	Cerebellar hypoplasia	529	ATP6V1E1	ORPHA:357074
HP:0001321	Cerebellar hypoplasia	440	ASNS	OMIM:615574
HP:0001321	Cerebellar hypoplasia	1719	DHFR	OMIM:613839
HP:0001321	Cerebellar hypoplasia	6496	SIX3	OMIM:157170
HP:0001321	Cerebellar hypoplasia	55074	OXR1	OMIM:213000
HP:0001321	Cerebellar hypoplasia	57647	DHX37	OMIM:618731
HP:0001321	Cerebellar hypoplasia	23404	EXOSC2	OMIM:617763
HP:0001321	Cerebellar hypoplasia	18	ABAT	OMIM:613163
HP:0001321	Cerebellar hypoplasia	1496	CTNNA2	OMIM:618174
HP:0001321	Cerebellar hypoplasia	79587	CARS2	OMIM:616672
HP:0001321	Cerebellar hypoplasia	7471	WNT1	OMIM:615220
HP:0001321	Cerebellar hypoplasia	85378	TUBGCP6	OMIM:251270
HP:0001321	Cerebellar hypoplasia	498	ATP5F1A	OMIM:615228
HP:0001321	Cerebellar hypoplasia	27445	PCLO	OMIM:608027
HP:0001321	Cerebellar hypoplasia	84197	POMK	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	114034	TOE1	ORPHA:284339
HP:0001321	Cerebellar hypoplasia	9562	MINPP1	ORPHA:284339
HP:0001321	Cerebellar hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0001321	Cerebellar hypoplasia	6311	ATXN2	ORPHA:98756
HP:0001321	Cerebellar hypoplasia	25914	RTTN	ORPHA:468631
HP:0001321	Cerebellar hypoplasia	26173	INTS1	OMIM:618571
HP:0001321	Cerebellar hypoplasia	4190	MDH1	OMIM:618959
HP:0001321	Cerebellar hypoplasia	50628	GEMIN4	OMIM:617913
HP:0001321	Cerebellar hypoplasia	2911	GRM1	OMIM:614831
HP:0001321	Cerebellar hypoplasia	51651	PTRH2	ORPHA:456312
HP:0001321	Cerebellar hypoplasia	63925	ZNF335	OMIM:615095
HP:0006808	Cerebral hypomyelination	6904	TBCD	ORPHA:496641
HP:0006808	Cerebral hypomyelination	10134	BCAP31	OMIM:300475
HP:0006808	Cerebral hypomyelination	10134	BCAP31	ORPHA:369939
HP:0006808	Cerebral hypomyelination	158	ADSL	OMIM:103050
HP:0006808	Cerebral hypomyelination	55703	POLR3B	OMIM:614381
HP:0006808	Cerebral hypomyelination	84992	PIGY	ORPHA:247262
HP:0006808	Cerebral hypomyelination	84720	PIGO	ORPHA:247262
HP:0006808	Cerebral hypomyelination	93210	PGAP3	ORPHA:247262
HP:0006808	Cerebral hypomyelination	284098	PIGW	ORPHA:247262
HP:0006808	Cerebral hypomyelination	27315	PGAP2	ORPHA:247262
HP:0006808	Cerebral hypomyelination	55650	PIGV	ORPHA:247262
HP:0006808	Cerebral hypomyelination	9487	PIGL	ORPHA:247262
HP:0006808	Cerebral hypomyelination	10588	MTHFS	OMIM:618367
HP:0006808	Cerebral hypomyelination	55823	VPS11	OMIM:616683
HP:0006808	Cerebral hypomyelination	6812	STXBP1	OMIM:612164
HP:0006808	Cerebral hypomyelination	160418	TMTC3	OMIM:617255
HP:0006808	Cerebral hypomyelination	84668	HYCC1	ORPHA:85163
HP:0006808	Cerebral hypomyelination	5354	PLP1	ORPHA:280219
HP:0006808	Cerebral hypomyelination	5354	PLP1	ORPHA:280210
HP:0006808	Cerebral hypomyelination	6509	SLC1A4	ORPHA:447997
HP:0006808	Cerebral hypomyelination	1528	CYB5A	ORPHA:621
HP:0006808	Cerebral hypomyelination	1727	CYB5R3	ORPHA:621
HP:0006808	Cerebral hypomyelination	8604	SLC25A12	OMIM:612949
HP:0006808	Cerebral hypomyelination	85365	ALG2	ORPHA:79326
HP:0006808	Cerebral hypomyelination	1967	EIF2B1	OMIM:603896
HP:0006808	Cerebral hypomyelination	57165	GJC2	OMIM:608804
HP:0006808	Cerebral hypomyelination	80232	WDR26	ORPHA:513456
HP:0006808	Cerebral hypomyelination	5917	RARS1	ORPHA:438114
HP:0006808	Cerebral hypomyelination	6663	SOX10	OMIM:611584
HP:0006808	Cerebral hypomyelination	26227	PHGDH	ORPHA:79351
HP:0006808	Cerebral hypomyelination	10382	TUBB4A	OMIM:612438
HP:0001305	Dandy-Walker malformation	10682	EBP	ORPHA:401973
HP:0001305	Dandy-Walker malformation	10682	EBP	OMIM:300960
HP:0001305	Dandy-Walker malformation	10682	EBP	OMIM:302960
HP:0001305	Dandy-Walker malformation	56896	DPYSL5	OMIM:619435
HP:0001305	Dandy-Walker malformation	3265	HRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	3845	KRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	4893	NRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	4893	NRAS	OMIM:249400
HP:0001305	Dandy-Walker malformation	23556	PIGN	ORPHA:2059
HP:0001305	Dandy-Walker malformation	7355	SLC35A2	ORPHA:356961
HP:0001305	Dandy-Walker malformation	65062	TMEM237	OMIM:614424
HP:0001305	Dandy-Walker malformation	65062	TMEM237	ORPHA:564
HP:0001305	Dandy-Walker malformation	7545	ZIC1	OMIM:616602
HP:0001305	Dandy-Walker malformation	7545	ZIC1	OMIM:618736
HP:0001305	Dandy-Walker malformation	84942	WDR73	OMIM:251300
HP:0001305	Dandy-Walker malformation	2737	GLI3	ORPHA:36
HP:0001305	Dandy-Walker malformation	374654	KIF7	ORPHA:36
HP:0001305	Dandy-Walker malformation	79848	CSPP1	ORPHA:397715
HP:0001305	Dandy-Walker malformation	79848	CSPP1	ORPHA:564
HP:0001305	Dandy-Walker malformation	9786	KIAA0586	ORPHA:397715
HP:0001305	Dandy-Walker malformation	57465	TBC1D24	OMIM:220500
HP:0001305	Dandy-Walker malformation	57465	TBC1D24	ORPHA:79500
HP:0001305	Dandy-Walker malformation	55112	DYNC2I1	ORPHA:93271
HP:0001305	Dandy-Walker malformation	57560	IFT80	ORPHA:93271
HP:0001305	Dandy-Walker malformation	57539	WDR35	ORPHA:93271
HP:0001305	Dandy-Walker malformation	79659	DYNC2H1	ORPHA:93271
HP:0001305	Dandy-Walker malformation	89891	DYNC2I2	ORPHA:93271
HP:0001305	Dandy-Walker malformation	1436	CSF1R	OMIM:618476
HP:0001305	Dandy-Walker malformation	84162	BLTP1	OMIM:617822
HP:0001305	Dandy-Walker malformation	4081	MAB21L1	OMIM:618479
HP:0001305	Dandy-Walker malformation	51259	TMEM216	OMIM:603194
HP:0001305	Dandy-Walker malformation	51259	TMEM216	ORPHA:564
HP:0001305	Dandy-Walker malformation	55636	CHD7	ORPHA:138
HP:0001305	Dandy-Walker malformation	9723	SEMA3E	ORPHA:138
HP:0001305	Dandy-Walker malformation	29954	POMT2	OMIM:236670
HP:0001305	Dandy-Walker malformation	29954	POMT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	9215	LARGE1	OMIM:236670
HP:0001305	Dandy-Walker malformation	9215	LARGE1	ORPHA:899
HP:0001305	Dandy-Walker malformation	9215	LARGE1	OMIM:613154
HP:0001305	Dandy-Walker malformation	79147	FKRP	OMIM:236670
HP:0001305	Dandy-Walker malformation	79147	FKRP	ORPHA:899
HP:0001305	Dandy-Walker malformation	79147	FKRP	OMIM:613153
HP:0001305	Dandy-Walker malformation	10585	POMT1	OMIM:236670
HP:0001305	Dandy-Walker malformation	10585	POMT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	2218	FKTN	OMIM:236670
HP:0001305	Dandy-Walker malformation	2218	FKTN	ORPHA:899
HP:0001305	Dandy-Walker malformation	84892	POMGNT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	148789	B3GALNT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	1282	COL4A1	ORPHA:899
HP:0001305	Dandy-Walker malformation	729920	CRPPA	ORPHA:899
HP:0001305	Dandy-Walker malformation	729920	CRPPA	OMIM:614643
HP:0001305	Dandy-Walker malformation	10329	RXYLT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	1605	DAG1	ORPHA:899
HP:0001305	Dandy-Walker malformation	11041	B4GAT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	11041	B4GAT1	OMIM:615287
HP:0001305	Dandy-Walker malformation	84197	POMK	ORPHA:899
HP:0001305	Dandy-Walker malformation	55624	POMGNT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	79068	FTO	OMIM:612938
HP:0001305	Dandy-Walker malformation	57492	ARID1B	OMIM:135900
HP:0001305	Dandy-Walker malformation	57492	ARID1B	ORPHA:1465
HP:0001305	Dandy-Walker malformation	3899	AFF3	OMIM:619297
HP:0001305	Dandy-Walker malformation	6597	SMARCA4	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6597	SMARCA4	OMIM:614609
HP:0001305	Dandy-Walker malformation	6598	SMARCB1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6598	SMARCB1	OMIM:614608
HP:0001305	Dandy-Walker malformation	6659	SOX4	ORPHA:1465
HP:0001305	Dandy-Walker malformation	8289	ARID1A	ORPHA:1465
HP:0001305	Dandy-Walker malformation	8289	ARID1A	OMIM:614607
HP:0001305	Dandy-Walker malformation	5977	DPF2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6601	SMARCC2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6602	SMARCD1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	196528	ARID2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6605	SMARCE1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6605	SMARCE1	OMIM:616938
HP:0001305	Dandy-Walker malformation	6664	SOX11	ORPHA:1465
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	ORPHA:2834
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	OMIM:219200
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	ORPHA:357074
HP:0001305	Dandy-Walker malformation	1801	DPH1	OMIM:616901
HP:0001305	Dandy-Walker malformation	1801	DPH1	ORPHA:459061
HP:0001305	Dandy-Walker malformation	27315	PGAP2	OMIM:614207
HP:0001305	Dandy-Walker malformation	157570	ESCO2	ORPHA:2319
HP:0001305	Dandy-Walker malformation	5340	PLG	ORPHA:722
HP:0001305	Dandy-Walker malformation	5340	PLG	OMIM:217090
HP:0001305	Dandy-Walker malformation	1717	DHCR7	OMIM:270400
HP:0001305	Dandy-Walker malformation	84314	TMEM107	ORPHA:564
HP:0001305	Dandy-Walker malformation	26123	TCTN3	ORPHA:564
HP:0001305	Dandy-Walker malformation	79867	TCTN2	ORPHA:564
HP:0001305	Dandy-Walker malformation	80776	B9D2	ORPHA:564
HP:0001305	Dandy-Walker malformation	80776	B9D2	OMIM:614175
HP:0001305	Dandy-Walker malformation	79600	TCTN1	ORPHA:564
HP:0001305	Dandy-Walker malformation	57096	RPGRIP1	ORPHA:564
HP:0001305	Dandy-Walker malformation	80184	CEP290	ORPHA:564
HP:0001305	Dandy-Walker malformation	80184	CEP290	OMIM:611134
HP:0001305	Dandy-Walker malformation	57545	CC2D2A	ORPHA:564
HP:0001305	Dandy-Walker malformation	79583	TMEM231	ORPHA:564
HP:0001305	Dandy-Walker malformation	79583	TMEM231	ORPHA:2752
HP:0001305	Dandy-Walker malformation	91147	TMEM67	ORPHA:564
HP:0001305	Dandy-Walker malformation	91147	TMEM67	OMIM:607361
HP:0001305	Dandy-Walker malformation	79770	TXNDC15	ORPHA:564
HP:0001305	Dandy-Walker malformation	27077	B9D1	ORPHA:564
HP:0001305	Dandy-Walker malformation	23322	RPGRIP1L	ORPHA:564
HP:0001305	Dandy-Walker malformation	54903	MKS1	ORPHA:564
HP:0001305	Dandy-Walker malformation	54903	MKS1	OMIM:249000
HP:0001305	Dandy-Walker malformation	27031	NPHP3	OMIM:267010
HP:0001305	Dandy-Walker malformation	27031	NPHP3	OMIM:208540
HP:0001305	Dandy-Walker malformation	27031	NPHP3	ORPHA:3032
HP:0001305	Dandy-Walker malformation	23258	DENND5A	OMIM:617281
HP:0001305	Dandy-Walker malformation	171023	ASXL1	ORPHA:97297
HP:0001305	Dandy-Walker malformation	171023	ASXL1	OMIM:605039
HP:0001305	Dandy-Walker malformation	9184	BUB3	ORPHA:1052
HP:0001305	Dandy-Walker malformation	699	BUB1	ORPHA:1052
HP:0001305	Dandy-Walker malformation	9702	CEP57	ORPHA:1052
HP:0001305	Dandy-Walker malformation	9319	TRIP13	ORPHA:1052
HP:0001305	Dandy-Walker malformation	701	BUB1B	ORPHA:1052
HP:0001305	Dandy-Walker malformation	701	BUB1B	OMIM:257300
HP:0001305	Dandy-Walker malformation	84188	FAR1	ORPHA:438178
HP:0001305	Dandy-Walker malformation	84188	FAR1	OMIM:616154
HP:0001305	Dandy-Walker malformation	2260	FGFR1	OMIM:613001
HP:0001305	Dandy-Walker malformation	124997	WDR81	OMIM:617967
HP:0001305	Dandy-Walker malformation	2683	B4GALT1	OMIM:607091
HP:0001305	Dandy-Walker malformation	2683	B4GALT1	ORPHA:79332
HP:0001305	Dandy-Walker malformation	26005	C2CD3	OMIM:615948
HP:0001305	Dandy-Walker malformation	26005	C2CD3	ORPHA:434179
HP:0001305	Dandy-Walker malformation	26227	PHGDH	OMIM:256520
HP:0001305	Dandy-Walker malformation	10804	GJB6	ORPHA:477
HP:0001305	Dandy-Walker malformation	2706	GJB2	ORPHA:477
HP:0001305	Dandy-Walker malformation	4927	NUP88	ORPHA:994
HP:0001305	Dandy-Walker malformation	7846	TUBA1A	ORPHA:994
HP:0001305	Dandy-Walker malformation	4654	MYOD1	ORPHA:994
HP:0001305	Dandy-Walker malformation	4593	MUSK	ORPHA:994
HP:0001305	Dandy-Walker malformation	5913	RAPSN	ORPHA:994
HP:0001305	Dandy-Walker malformation	6572	SLC18A3	ORPHA:994
HP:0001305	Dandy-Walker malformation	285489	DOK7	ORPHA:994
HP:0001305	Dandy-Walker malformation	7737	RNF113A	OMIM:300953
HP:0001305	Dandy-Walker malformation	56006	SMG9	OMIM:616920
HP:0001305	Dandy-Walker malformation	998	CDC42	ORPHA:487796
HP:0001305	Dandy-Walker malformation	51524	TMEM138	OMIM:614465
HP:0001305	Dandy-Walker malformation	8239	USP9X	ORPHA:480880
HP:0001305	Dandy-Walker malformation	8239	USP9X	OMIM:300968
HP:0001305	Dandy-Walker malformation	11128	POLR3A	OMIM:264090
HP:0001305	Dandy-Walker malformation	4534	MTM1	OMIM:310400
HP:0001305	Dandy-Walker malformation	526	ATP6V1B2	ORPHA:79500
HP:0001305	Dandy-Walker malformation	54880	BCOR	OMIM:300166
HP:0001305	Dandy-Walker malformation	203068	TUBB	OMIM:156610
HP:0001305	Dandy-Walker malformation	55640	FLVCR2	OMIM:225790
HP:0001305	Dandy-Walker malformation	28952	CCDC22	OMIM:300963
HP:0001305	Dandy-Walker malformation	28952	CCDC22	ORPHA:7
HP:0001305	Dandy-Walker malformation	80210	ARMC9	OMIM:617622
HP:0001305	Dandy-Walker malformation	5500	PPP1CB	OMIM:617506
HP:0001305	Dandy-Walker malformation	54676	GTPBP2	OMIM:617988
HP:0001305	Dandy-Walker malformation	5373	PMM2	ORPHA:79318
HP:0001305	Dandy-Walker malformation	63895	PIEZO2	OMIM:248700
HP:0001305	Dandy-Walker malformation	9897	WASHC5	OMIM:220210
HP:0001305	Dandy-Walker malformation	9897	WASHC5	ORPHA:7
HP:0001305	Dandy-Walker malformation	2239	GPC4	ORPHA:373
HP:0001305	Dandy-Walker malformation	2719	GPC3	ORPHA:373
HP:0001305	Dandy-Walker malformation	23007	PLCH1	OMIM:619895
HP:0001305	Dandy-Walker malformation	2121	EVC	OMIM:225500
HP:0001305	Dandy-Walker malformation	132884	EVC2	OMIM:225500
HP:0001305	Dandy-Walker malformation	153241	CEP120	OMIM:616300
HP:0001305	Dandy-Walker malformation	523	ATP6V1A	ORPHA:357074
HP:0001305	Dandy-Walker malformation	529	ATP6V1E1	ORPHA:357074
HP:0001305	Dandy-Walker malformation	3798	KIF5A	OMIM:617235
HP:0001305	Dandy-Walker malformation	1028	CDKN1C	OMIM:130650
HP:0001305	Dandy-Walker malformation	10984	KCNQ1OT1	OMIM:130650
HP:0001305	Dandy-Walker malformation	3481	IGF2	OMIM:130650
HP:0001305	Dandy-Walker malformation	3784	KCNQ1	OMIM:130650
HP:0001305	Dandy-Walker malformation	738	VPS51	OMIM:618606
HP:0001305	Dandy-Walker malformation	1376	CPT2	ORPHA:228305
HP:0001305	Dandy-Walker malformation	10195	ALG3	ORPHA:79321
HP:0001305	Dandy-Walker malformation	8481	OFD1	ORPHA:2750
HP:0001305	Dandy-Walker malformation	219844	HYLS1	OMIM:236680
HP:0001305	Dandy-Walker malformation	4281	MID1	ORPHA:2745
HP:0001305	Dandy-Walker malformation	8905	AP1S2	OMIM:304340
HP:0001266	Choreoathetosis	4594	MMUT	ORPHA:289916
HP:0001266	Choreoathetosis	4594	MMUT	ORPHA:79312
HP:0001266	Choreoathetosis	26235	FBXL4	OMIM:615471
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:612126
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:601042
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:98811
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:606777
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:53583
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:71277
HP:0001266	Choreoathetosis	478	ATP1A3	OMIM:614820
HP:0001266	Choreoathetosis	478	ATP1A3	ORPHA:2131
HP:0001266	Choreoathetosis	6323	SCN1A	OMIM:619317
HP:0001266	Choreoathetosis	1119	CHKA	OMIM:620023
HP:0001266	Choreoathetosis	170302	ARX	OMIM:308350
HP:0001266	Choreoathetosis	170302	ARX	ORPHA:1934
HP:0001266	Choreoathetosis	81570	CLPB	ORPHA:445038
HP:0001266	Choreoathetosis	81570	CLPB	OMIM:616271
HP:0001266	Choreoathetosis	57165	GJC2	OMIM:608804
HP:0001266	Choreoathetosis	1822	ATN1	OMIM:125370
HP:0001266	Choreoathetosis	1822	ATN1	ORPHA:101
HP:0001266	Choreoathetosis	65993	MRPS34	OMIM:617664
HP:0001266	Choreoathetosis	80207	OPA3	ORPHA:67047
HP:0001266	Choreoathetosis	125988	MICOS13	ORPHA:67047
HP:0001266	Choreoathetosis	5160	PDHA1	OMIM:312170
HP:0001266	Choreoathetosis	472	ATM	OMIM:208900
HP:0001266	Choreoathetosis	79133	NDUFAF5	OMIM:618238
HP:0001266	Choreoathetosis	5610	EIF2AK2	OMIM:618877
HP:0001266	Choreoathetosis	84520	GON7	OMIM:619603
HP:0001266	Choreoathetosis	1644	DDC	OMIM:608643
HP:0001266	Choreoathetosis	3736	KCNA1	ORPHA:37612
HP:0001266	Choreoathetosis	3736	KCNA1	ORPHA:1934
HP:0001266	Choreoathetosis	8869	ST3GAL5	OMIM:609056
HP:0001266	Choreoathetosis	87178	PNPT1	ORPHA:319514
HP:0001266	Choreoathetosis	87178	PNPT1	OMIM:614932
HP:0001266	Choreoathetosis	4694	NDUFA1	OMIM:301020
HP:0001266	Choreoathetosis	55250	ELP2	OMIM:617270
HP:0001266	Choreoathetosis	4204	MECP2	OMIM:300055
HP:0001266	Choreoathetosis	4704	NDUFA9	OMIM:618247
HP:0001266	Choreoathetosis	116228	COX20	OMIM:619054
HP:0001266	Choreoathetosis	23732	FRRS1L	OMIM:616981
HP:0001266	Choreoathetosis	64207	IRF2BPL	OMIM:618088
HP:0001266	Choreoathetosis	3054	HCFC1	OMIM:309541
HP:0001266	Choreoathetosis	51079	NDUFA13	OMIM:618249
HP:0001266	Choreoathetosis	7920	ABHD16A	OMIM:619735
HP:0001266	Choreoathetosis	114034	TOE1	OMIM:614969
HP:0001266	Choreoathetosis	2074	ERCC6	OMIM:278800
HP:0001266	Choreoathetosis	5428	POLG	ORPHA:726
HP:0001266	Choreoathetosis	7080	NKX2-1	ORPHA:209905
HP:0001266	Choreoathetosis	7080	NKX2-1	OMIM:610978
HP:0001266	Choreoathetosis	4361	MRE11	OMIM:604391
HP:0001266	Choreoathetosis	6821	SUOX	OMIM:272300
HP:0001266	Choreoathetosis	5805	PTS	ORPHA:13
HP:0001266	Choreoathetosis	5805	PTS	OMIM:261640
HP:0001266	Choreoathetosis	2898	GRIK2	OMIM:619580
HP:0001266	Choreoathetosis	10715	CERS1	OMIM:616230
HP:0001266	Choreoathetosis	774	CACNA1B	OMIM:618497
HP:0001266	Choreoathetosis	8802	SUCLG1	ORPHA:17
HP:0001266	Choreoathetosis	54664	TMEM106B	OMIM:617964
HP:0001266	Choreoathetosis	284439	SLC25A42	OMIM:618416
HP:0001266	Choreoathetosis	10382	TUBB4A	OMIM:612438
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:98811
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:98810
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:31709
HP:0001266	Choreoathetosis	6697	SPR	OMIM:612716
HP:0001266	Choreoathetosis	25953	PNKD	ORPHA:98810
HP:0001266	Choreoathetosis	3028	HSD17B10	ORPHA:391428
HP:0001266	Choreoathetosis	3028	HSD17B10	OMIM:300438
HP:0001266	Choreoathetosis	2512	FTL	OMIM:606159
HP:0001266	Choreoathetosis	10367	MICU1	OMIM:615673
HP:0001266	Choreoathetosis	6812	STXBP1	OMIM:612164
HP:0001266	Choreoathetosis	23533	PIK3R5	ORPHA:64753
HP:0001266	Choreoathetosis	23064	SETX	ORPHA:64753
HP:0001266	Choreoathetosis	92609	TIMM50	OMIM:617698
HP:0001266	Choreoathetosis	2643	GCH1	OMIM:233910
HP:0001266	Choreoathetosis	773	CACNA1A	ORPHA:2131
HP:0001266	Choreoathetosis	6507	SLC1A3	ORPHA:2131
HP:0001266	Choreoathetosis	477	ATP1A2	ORPHA:2131
HP:0001266	Choreoathetosis	477	ATP1A2	OMIM:104290
HP:0001266	Choreoathetosis	80036	TRPM3	OMIM:620224
HP:0001266	Choreoathetosis	80067	DCAF17	ORPHA:3464
HP:0001266	Choreoathetosis	80067	DCAF17	OMIM:241080
HP:0001266	Choreoathetosis	80025	PANK2	OMIM:234200
HP:0001266	Choreoathetosis	7507	XPA	OMIM:278700
HP:0001266	Choreoathetosis	111	ADCY5	OMIM:606703
HP:0001266	Choreoathetosis	1737	DLAT	OMIM:245348
HP:0001266	Choreoathetosis	3251	HPRT1	OMIM:300322
HP:0001266	Choreoathetosis	5138	PDE2A	ORPHA:31709
HP:0001266	Choreoathetosis	6334	SCN8A	ORPHA:31709
HP:0001266	Choreoathetosis	60558	GUF1	OMIM:617065
HP:0001266	Choreoathetosis	6857	SYT1	ORPHA:522077
HP:0001266	Choreoathetosis	6857	SYT1	OMIM:618218
HP:0001266	Choreoathetosis	2566	GABRG2	OMIM:618396
HP:0001266	Choreoathetosis	283989	TSEN54	ORPHA:2524
HP:0001266	Choreoathetosis	116461	TSEN15	ORPHA:2524
HP:0001266	Choreoathetosis	79042	TSEN34	ORPHA:2524
HP:0001266	Choreoathetosis	80746	TSEN2	ORPHA:2524
HP:0001266	Choreoathetosis	51091	SEPSECS	ORPHA:2524
HP:0001266	Choreoathetosis	9213	XPR1	OMIM:616413
HP:0001266	Choreoathetosis	54676	GTPBP2	OMIM:617988
HP:0001266	Choreoathetosis	23556	PIGN	OMIM:614080
HP:0001266	Choreoathetosis	4508	MT-ATP6	ORPHA:225154
HP:0001266	Choreoathetosis	23636	NUP62	ORPHA:225154
HP:0001266	Choreoathetosis	23636	NUP62	OMIM:271930
HP:0001266	Choreoathetosis	103	ADAR	ORPHA:225154
HP:0001266	Choreoathetosis	5354	PLP1	OMIM:312080
HP:0001266	Choreoathetosis	7143	TNR	OMIM:619653
HP:0001266	Choreoathetosis	10463	SLC30A9	OMIM:617595
HP:0001266	Choreoathetosis	5455	POU3F3	OMIM:618604
HP:0001266	Choreoathetosis	133686	NADK2	ORPHA:431361
HP:0001266	Choreoathetosis	133686	NADK2	OMIM:616034
HP:0001266	Choreoathetosis	23219	FBXO28	OMIM:619777
HP:0001266	Choreoathetosis	9439	MED23	OMIM:614249
HP:0001266	Choreoathetosis	256472	TMEM151A	OMIM:620245
HP:0001266	Choreoathetosis	57731	SPTBN4	OMIM:617519
HP:0001266	Choreoathetosis	2778	GNAS	ORPHA:79443
HP:0001266	Choreoathetosis	2639	GCDH	OMIM:231670
HP:0001266	Choreoathetosis	6567	SLC16A2	ORPHA:59
HP:0001266	Choreoathetosis	25970	SH2B1	ORPHA:261197
HP:0001266	Choreoathetosis	5860	QDPR	OMIM:261630
HP:0001266	Choreoathetosis	10533	ATG7	OMIM:619422
HP:0001266	Choreoathetosis	3658	IREB2	OMIM:618451
HP:0001266	Choreoathetosis	3329	HSPD1	OMIM:612233
HP:0001266	Choreoathetosis	284111	SLC13A5	OMIM:615905
HP:0001266	Choreoathetosis	8905	AP1S2	OMIM:304340
HP:0001266	Choreoathetosis	6792	CDKL5	ORPHA:1934
HP:0001266	Choreoathetosis	9091	PIGQ	ORPHA:1934
HP:0001266	Choreoathetosis	2775	GNAO1	ORPHA:1934
HP:0001266	Choreoathetosis	81603	TRIM8	ORPHA:1934
HP:0001266	Choreoathetosis	2902	GRIN1	ORPHA:1934
HP:0001266	Choreoathetosis	79751	SLC25A22	ORPHA:1934
HP:0001266	Choreoathetosis	150094	SIK1	ORPHA:1934
HP:0001266	Choreoathetosis	8573	CASK	ORPHA:1934
HP:0001266	Choreoathetosis	23312	DMXL2	ORPHA:1934
HP:0001266	Choreoathetosis	2917	GRM7	ORPHA:1934
HP:0001266	Choreoathetosis	11284	PNKP	ORPHA:1934
HP:0001266	Choreoathetosis	6326	SCN2A	ORPHA:1934
HP:0001266	Choreoathetosis	51227	PIGP	ORPHA:1934
HP:0001266	Choreoathetosis	6324	SCN1B	ORPHA:1934
HP:0001266	Choreoathetosis	4761	NEUROD2	ORPHA:1934
HP:0001266	Choreoathetosis	2068	ERCC2	OMIM:278730
HP:0001266	Choreoathetosis	23230	VPS13A	OMIM:200150
HP:0006812	White mater abnormalities in the posterior periventricular region	4668	NAGA	OMIM:609242
HP:0006813	Focal hemiclonic seizure	6323	SCN1A	OMIM:604403
HP:0006813	Focal hemiclonic seizure	6323	SCN1A	OMIM:607208
HP:0006813	Focal hemiclonic seizure	6323	SCN1A	OMIM:619317
HP:0006813	Focal hemiclonic seizure	6323	SCN1A	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	57526	PCDH19	OMIM:300088
HP:0006813	Focal hemiclonic seizure	57526	PCDH19	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	284058	KANSL1	ORPHA:363965
HP:0006813	Focal hemiclonic seizure	284058	KANSL1	ORPHA:363958
HP:0006813	Focal hemiclonic seizure	6324	SCN1B	OMIM:617350
HP:0006813	Focal hemiclonic seizure	6324	SCN1B	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	23316	CUX2	OMIM:618141
HP:0006813	Focal hemiclonic seizure	23732	FRRS1L	OMIM:616981
HP:0006813	Focal hemiclonic seizure	23732	FRRS1L	ORPHA:725
HP:0006813	Focal hemiclonic seizure	57468	SLC12A5	OMIM:616645
HP:0006813	Focal hemiclonic seizure	50485	SMARCAL1	ORPHA:1830
HP:0006813	Focal hemiclonic seizure	478	ATP1A3	OMIM:619606
HP:0006813	Focal hemiclonic seizure	2782	GNB1	OMIM:616973
HP:0006813	Focal hemiclonic seizure	6334	SCN8A	OMIM:614558
HP:0006813	Focal hemiclonic seizure	2554	GABRA1	OMIM:615744
HP:0006813	Focal hemiclonic seizure	2554	GABRA1	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	2903	GRIN2A	ORPHA:725
HP:0006813	Focal hemiclonic seizure	51343	FZR1	OMIM:620145
HP:0006813	Focal hemiclonic seizure	6335	SCN9A	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	6326	SCN2A	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	2566	GABRG2	ORPHA:33069
HP:0006813	Focal hemiclonic seizure	781	CACNA2D1	OMIM:620149
HP:0004944	Dilatation of the cerebral artery	1281	COL3A1	OMIM:130050
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	ORPHA:284984
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	OMIM:613795
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	51726	DNAJB11	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	23193	GANAB	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	23193	GANAB	OMIM:600666
HP:0004944	Dilatation of the cerebral artery	5310	PKD1	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	5311	PKD2	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	29880	ALG5	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	9742	IFT140	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	79796	ALG9	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	80114	BICC1	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	6772	STAT1	ORPHA:391487
HP:0004944	Dilatation of the cerebral artery	10043	TOM1	ORPHA:391487
HP:0004944	Dilatation of the cerebral artery	10526	IPO8	OMIM:619472
HP:0004944	Dilatation of the cerebral artery	6711	SPTBN1	OMIM:619475
HP:0004944	Dilatation of the cerebral artery	2548	GAA	OMIM:232300
HP:0004944	Dilatation of the cerebral artery	4087	SMAD2	OMIM:619656
HP:0004944	Dilatation of the cerebral artery	4087	SMAD2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	1282	COL4A1	OMIM:611773
HP:0004944	Dilatation of the cerebral artery	7048	TGFBR2	OMIM:610168
HP:0004944	Dilatation of the cerebral artery	7048	TGFBR2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4629	MYH11	ORPHA:229
HP:0004944	Dilatation of the cerebral artery	4629	MYH11	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	59	ACTA2	OMIM:613834
HP:0004944	Dilatation of the cerebral artery	59	ACTA2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	10056	FARSB	OMIM:613658
HP:0004944	Dilatation of the cerebral artery	5589	PRKCSH	OMIM:174050
HP:0004944	Dilatation of the cerebral artery	4796	TONSL	ORPHA:93357
HP:0004944	Dilatation of the cerebral artery	2677	GGCX	ORPHA:91135
HP:0004944	Dilatation of the cerebral artery	1277	COL1A1	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	1289	COL5A1	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	1289	COL5A1	OMIM:619329
HP:0004944	Dilatation of the cerebral artery	1290	COL5A2	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	633	BGN	OMIM:300989
HP:0004944	Dilatation of the cerebral artery	8985	PLOD3	OMIM:612394
HP:0004944	Dilatation of the cerebral artery	7046	TGFBR1	OMIM:609192
HP:0004944	Dilatation of the cerebral artery	7046	TGFBR1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	5116	PCNT	OMIM:210720
HP:0004944	Dilatation of the cerebral artery	5573	PRKAR1A	ORPHA:615
HP:0004944	Dilatation of the cerebral artery	5573	PRKAR1A	ORPHA:1359
HP:0004944	Dilatation of the cerebral artery	4763	NF1	ORPHA:97685
HP:0004944	Dilatation of the cerebral artery	4015	LOX	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	7043	TGFB3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	7042	TGFB2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4089	SMAD4	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2200	FBN1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	5592	PRKG1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2301	FOXE3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4144	MAT2A	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	23493	HEY2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	8076	MFAP5	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4638	MYLK	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2006	ELN	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	50940	PDE11A	ORPHA:1359
HP:0004944	Dilatation of the cerebral artery	7049	TGFBR3	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	83854	ANGPTL6	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	2022	ENG	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	55901	THSD1	OMIM:618734
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	ORPHA:401973
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	OMIM:300960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	OMIM:302960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56896	DPYSL5	OMIM:619435
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3265	HRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3845	KRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4893	NRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4893	NRAS	OMIM:249400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23556	PIGN	ORPHA:2059
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7355	SLC35A2	ORPHA:356961
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7545	ZIC1	OMIM:616602
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7545	ZIC1	OMIM:618736
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84942	WDR73	OMIM:251300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2737	GLI3	ORPHA:36
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57465	TBC1D24	OMIM:220500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57465	TBC1D24	ORPHA:79500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55112	DYNC2I1	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57560	IFT80	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57539	WDR35	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79659	DYNC2H1	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	89891	DYNC2I2	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1436	CSF1R	OMIM:618476
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84162	BLTP1	OMIM:617822
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4081	MAB21L1	OMIM:618479
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55636	CHD7	ORPHA:138
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9723	SEMA3E	ORPHA:138
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2218	FKTN	OMIM:236670
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2218	FKTN	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84892	POMGNT2	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	148789	B3GALNT2	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1282	COL4A1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	729920	CRPPA	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	729920	CRPPA	OMIM:614643
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10329	RXYLT1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11041	B4GAT1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11041	B4GAT1	OMIM:615287
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84197	POMK	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55624	POMGNT1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79068	FTO	OMIM:612938
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57492	ARID1B	OMIM:135900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57492	ARID1B	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3899	AFF3	OMIM:619297
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6597	SMARCA4	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6597	SMARCA4	OMIM:614609
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6598	SMARCB1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6598	SMARCB1	OMIM:614608
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6659	SOX4	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8289	ARID1A	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8289	ARID1A	OMIM:614607
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5977	DPF2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6601	SMARCC2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6602	SMARCD1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	196528	ARID2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6605	SMARCE1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6605	SMARCE1	OMIM:616938
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6664	SOX11	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27315	PGAP2	OMIM:614207
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	157570	ESCO2	ORPHA:2319
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5340	PLG	ORPHA:722
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5340	PLG	OMIM:217090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1717	DHCR7	OMIM:270400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84314	TMEM107	ORPHA:564
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79770	TXNDC15	ORPHA:564
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	OMIM:267010
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	OMIM:208540
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	ORPHA:3032
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	171023	ASXL1	ORPHA:97297
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	171023	ASXL1	OMIM:605039
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9184	BUB3	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	699	BUB1	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9702	CEP57	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9319	TRIP13	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	701	BUB1B	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	701	BUB1B	OMIM:257300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84188	FAR1	ORPHA:438178
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84188	FAR1	OMIM:616154
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2260	FGFR1	OMIM:613001
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2683	B4GALT1	OMIM:607091
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2683	B4GALT1	ORPHA:79332
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26227	PHGDH	OMIM:256520
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4927	NUP88	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4654	MYOD1	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4593	MUSK	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5913	RAPSN	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6572	SLC18A3	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	285489	DOK7	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7737	RNF113A	OMIM:300953
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	998	CDC42	ORPHA:487796
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11128	POLR3A	OMIM:264090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4534	MTM1	OMIM:310400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	526	ATP6V1B2	ORPHA:79500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54880	BCOR	OMIM:300166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55640	FLVCR2	OMIM:225790
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	28952	CCDC22	OMIM:300963
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	28952	CCDC22	ORPHA:7
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5500	PPP1CB	OMIM:617506
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54676	GTPBP2	OMIM:617988
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9897	WASHC5	OMIM:220210
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9897	WASHC5	ORPHA:7
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23007	PLCH1	OMIM:619895
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2121	EVC	OMIM:225500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	132884	EVC2	OMIM:225500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	523	ATP6V1A	ORPHA:357074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	529	ATP6V1E1	ORPHA:357074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3798	KIF5A	OMIM:617235
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1028	CDKN1C	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10984	KCNQ1OT1	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3481	IGF2	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3784	KCNQ1	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10195	ALG3	ORPHA:79321
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27183	VPS4A	OMIM:619273
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10128	LRPPRC	OMIM:220111
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3912	LAMB1	OMIM:615191
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54892	NCAPG2	OMIM:618460
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60529	ALX4	OMIM:613451
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4750	NEK1	OMIM:263520
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23241	PACS2	OMIM:618067
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	100151683	RNU4ATAC	OMIM:210710
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26160	IFT172	OMIM:615630
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	OMIM:614424
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55733	HHAT	OMIM:600092
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	OMIM:213300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8496	PPFIBP1	OMIM:620024
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1605	DAG1	ORPHA:370997
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1605	DAG1	OMIM:616538
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4867	NPHP1	OMIM:609583
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4867	NPHP1	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	64324	NSD1	ORPHA:821
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29072	SETD2	ORPHA:821
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10297	APC2	ORPHA:821
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	91147	TMEM67	OMIM:216360
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	91147	TMEM67	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	91147	TMEM67	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	91147	TMEM67	OMIM:610688
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79848	CSPP1	ORPHA:397715
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79848	CSPP1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	ORPHA:397715
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	OMIM:616546
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	128869	PIGU	OMIM:618590
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4983	OPHN1	OMIM:300486
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4281	MID1	OMIM:300000
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9578	CDC42BPB	OMIM:619841
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3020	H3-3A	OMIM:619720
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219854	TMEM218	OMIM:619562
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219854	TMEM218	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	473	RERE	OMIM:616975
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	473	RERE	ORPHA:494344
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23322	RPGRIP1L	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23322	RPGRIP1L	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7280	TUBB2A	OMIM:615763
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79644	SRD5A3	OMIM:612379
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	OMIM:608629
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	153241	CEP120	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	153241	CEP120	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54903	MKS1	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54903	MKS1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95681	CEP41	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95681	CEP41	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29968	PSAT1	OMIM:610992
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29968	PSAT1	ORPHA:284417
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10501	SEMA6B	OMIM:618876
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80055	PGAP1	OMIM:615802
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57082	KNL1	OMIM:604321
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	OMIM:611603
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	ORPHA:171680
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9382	COG1	OMIM:611209
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9382	COG1	ORPHA:263508
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29925	GMPPB	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79147	FKRP	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29954	POMT2	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29954	POMT2	OMIM:613156
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9215	LARGE1	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10585	POMT1	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10585	POMT1	OMIM:613155
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55777	MBD5	OMIM:156200
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	347733	TUBB2B	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	347733	TUBB2B	OMIM:610031
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10381	TUBB3	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10381	TUBB3	ORPHA:300570
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22930	RAB3GAP1	OMIM:600118
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22930	RAB3GAP1	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	203068	TUBB	OMIM:615771
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23545	ATP6V0A2	ORPHA:2834
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1778	DYNC1H1	OMIM:614563
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23090	ZNF423	OMIM:614844
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23090	ZNF423	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1801	DPH1	OMIM:616901
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1801	DPH1	ORPHA:459061
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80746	TSEN2	OMIM:612389
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80746	TSEN2	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22897	CEP164	OMIM:614845
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54974	THG1L	OMIM:618800
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	93627	TBCK	OMIM:616900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1063	CENPF	OMIM:243605
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79583	TMEM231	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79583	TMEM231	ORPHA:2752
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51524	TMEM138	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80184	CEP290	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51259	TMEM216	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51259	TMEM216	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	OMIM:619111
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23116	TOGARAM1	OMIM:619185
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23116	TOGARAM1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7703	PCGF2	OMIM:618371
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80856	LNPK	OMIM:618090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23258	DENND5A	OMIM:617281
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26278	SACS	ORPHA:98
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9839	ZEB2	ORPHA:261552
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9839	ZEB2	ORPHA:261537
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79600	TCTN1	OMIM:614173
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79600	TCTN1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79042	TSEN34	OMIM:612390
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79042	TSEN34	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	127833	SYT2	OMIM:619461
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1822	ATN1	OMIM:618494
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8550	MAPKAPK5	OMIM:619869
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	545	ATR	OMIM:210600
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10352	WARS2	ORPHA:572798
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26005	C2CD3	OMIM:615948
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	492	ATP2B3	ORPHA:314978
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60386	SLC25A19	ORPHA:99742
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60386	SLC25A19	OMIM:607196
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5373	PMM2	OMIM:212065
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5373	PMM2	ORPHA:79318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2296	FOXC1	OMIM:602482
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2296	FOXC1	OMIM:601631
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8241	RBM10	OMIM:311900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	59336	PRDM13	OMIM:619909
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51684	SUFU	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	OMIM:277170
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	200894	ARL13B	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9731	CEP104	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219844	HYLS1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23247	KATNIP	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23247	KATNIP	OMIM:616784
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79867	TCTN2	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80776	B9D2	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10464	PIBF1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80210	ARMC9	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	25776	CBY1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27077	B9D1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	403	ARL3	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	403	ARL3	OMIM:618161
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10804	GJB6	ORPHA:477
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2706	GJB2	ORPHA:477
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2615	LRRC32	OMIM:619074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4352	MPL	OMIM:604498
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11340	EXOSC8	OMIM:616081
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	OMIM:619476
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	OMIM:617127
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	253738	EBF3	OMIM:617330
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57187	THOC2	OMIM:300957
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2892	GRIA3	ORPHA:364028
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56006	SMG9	OMIM:616920
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	163786	SASS6	OMIM:616402
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55280	CWF19L1	OMIM:616127
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55280	CWF19L1	ORPHA:453521
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29957	SLC25A24	OMIM:612289
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4361	MRE11	ORPHA:251347
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8239	USP9X	ORPHA:480880
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51692	CPSF3	OMIM:619876
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9289	ADGRG1	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9289	ADGRG1	ORPHA:101070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5297	PI4KA	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5297	PI4KA	OMIM:616531
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27286	SRPX2	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5728	PTEN	ORPHA:101070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10236	HNRNPR	OMIM:620073
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51611	DPH5	OMIM:620070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6872	TAF1	OMIM:300966
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22983	MAST1	OMIM:618273
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2232	FDXR	ORPHA:543470
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	90416	CCDC32	OMIM:619123
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	283989	TSEN54	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	116461	TSEN15	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51091	SEPSECS	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6121	RPE65	OMIM:204100
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	284217	LAMA1	OMIM:615960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5591	PRKDC	OMIM:615966
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3708	ITPR1	OMIM:117360
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57038	RARS2	OMIM:611523
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54499	TMCO1	ORPHA:1394
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79971	WLS	OMIM:619648
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79633	FAT4	ORPHA:314679
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8642	DCHS1	ORPHA:314679
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55691	FRMD4A	OMIM:616819
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55691	FRMD4A	ORPHA:466688
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3187	HNRNPH1	OMIM:620083
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57724	EPG5	OMIM:242840
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57020	VPS35L	OMIM:619135
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4123	MAN2C1	OMIM:619775
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5879	RAC1	OMIM:617751
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	738	VPS51	OMIM:618606
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8481	OFD1	OMIM:300804
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8481	OFD1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23499	MACF1	OMIM:618325
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2806	GOT2	OMIM:618721
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3954	LETM1	OMIM:620089
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84081	NSRP1	OMIM:620001
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5048	PAFAH1B1	ORPHA:95232
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9939	RBM8A	OMIM:274000
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	25782	RAB3GAP2	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22931	RAB18	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	128637	TBC1D20	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10079	ATP9A	OMIM:620242
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1376	CPT2	ORPHA:228308
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10210	TOPORS	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26123	TCTN3	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5147	PDE6D	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	317662	FAM149B1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	374654	KIF7	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9896	FIG4	OMIM:216340
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23299	BICD2	OMIM:618291
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	129285	PPP1R21	OMIM:619383
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79023	NUP37	OMIM:618179
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8295	TRRAP	OMIM:618454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9181	ARHGEF2	OMIM:617523
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2719	GPC3	OMIM:312870
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2239	GPC4	OMIM:312870
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55770	EXOC2	OMIM:619306
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9230	RAB11B	OMIM:617807
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8905	AP1S2	OMIM:304340
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80816	ASXL3	ORPHA:352577
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4208	MEF2C	ORPHA:228384
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3839	KPNA3	OMIM:620106
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	256297	PTF1A	OMIM:609069
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7020	TFAP2A	OMIM:113620
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9928	KIF14	OMIM:616258
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4598	MVK	OMIM:610377
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55690	PACS1	ORPHA:329224
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95	ACY1	ORPHA:137754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3769	KCNJ13	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	343035	RD3	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	145226	RDH12	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1406	CRX	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	64802	NMNAT1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57096	RPGRIP1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10383	TUBB4B	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9742	IFT140	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	85015	USP45	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23418	CRB1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5130	PCYT1A	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9657	IQCB1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	392255	GDF6	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23746	AIPL1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3000	GUCY2D	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9227	LRAT	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55812	SPATA7	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7287	TULP1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	167691	LCA5	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3614	IMPDH1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	124997	WDR81	OMIM:610185
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	63895	PIEZO2	OMIM:248700
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3897	L1CAM	OMIM:304100
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2972	BRF1	ORPHA:444072
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	652	BMP4	OMIM:607932
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	652	BMP4	ORPHA:139471
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	83696	TRAPPC9	OMIM:613192
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26173	INTS1	OMIM:618571
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4190	MDH1	OMIM:618959
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7436	VLDLR	OMIM:224050
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	50628	GEMIN4	OMIM:617913
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2911	GRM1	OMIM:614831
HP:0006818	4-layered lissencephaly	5649	RELN	ORPHA:89844
HP:0006818	4-layered lissencephaly	5649	RELN	OMIM:257320
HP:0006818	4-layered lissencephaly	10300	KATNB1	ORPHA:89844
HP:0006818	4-layered lissencephaly	54820	NDE1	ORPHA:89844
HP:0007024	Pseudobulbar paralysis	343641	TGM6	OMIM:613908
HP:0007024	Pseudobulbar paralysis	343641	TGM6	ORPHA:276193
HP:0007024	Pseudobulbar paralysis	5654	HTRA1	ORPHA:199354
HP:0007024	Pseudobulbar paralysis	4841	NONO	ORPHA:466791
HP:0007024	Pseudobulbar paralysis	5917	RARS1	OMIM:616140
HP:0007024	Pseudobulbar paralysis	5917	RARS1	ORPHA:438114
HP:0007024	Pseudobulbar paralysis	5832	ALDH18A1	OMIM:616586
HP:0007024	Pseudobulbar paralysis	1593	CYP27A1	OMIM:213700
HP:0007024	Pseudobulbar paralysis	9289	ADGRG1	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	5297	PI4KA	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	27286	SRPX2	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	57679	ALS2	OMIM:606353
HP:0007024	Pseudobulbar paralysis	4001	LMNB1	OMIM:169500
HP:0007024	Pseudobulbar paralysis	2583	B4GALNT1	ORPHA:101006
HP:0007024	Pseudobulbar paralysis	116150	NUS1	OMIM:617082
HP:0007024	Pseudobulbar paralysis	9896	FIG4	ORPHA:208441
HP:0007024	Pseudobulbar paralysis	22872	SEC31A	OMIM:618651
HP:0007024	Pseudobulbar paralysis	23503	ZFYVE26	ORPHA:100996
HP:0007024	Pseudobulbar paralysis	60	ACTB	OMIM:607371
HP:0007024	Pseudobulbar paralysis	6647	SOD1	OMIM:105400
HP:0007024	Pseudobulbar paralysis	5630	PRPH	OMIM:105400
HP:0007024	Pseudobulbar paralysis	1639	DCTN1	OMIM:105400
HP:0007024	Pseudobulbar paralysis	4744	NEFH	OMIM:105400
HP:0007024	Pseudobulbar paralysis	3145	HMBS	ORPHA:79276
HP:0007024	Pseudobulbar paralysis	4854	NOTCH3	OMIM:125310
HP:0001347	Hyperreflexia	2137	EXTL3	ORPHA:508533
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:614381
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:619742
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:607694
HP:0001347	Hyperreflexia	4099	MAG	OMIM:616680
HP:0001347	Hyperreflexia	4750	NEK1	OMIM:617892
HP:0001347	Hyperreflexia	6873	TAF2	OMIM:615599
HP:0001347	Hyperreflexia	6873	TAF2	ORPHA:397951
HP:0001347	Hyperreflexia	3265	HRAS	ORPHA:2612
HP:0001347	Hyperreflexia	3265	HRAS	ORPHA:2874
HP:0001347	Hyperreflexia	3845	KRAS	ORPHA:2612
HP:0001347	Hyperreflexia	4893	NRAS	ORPHA:2612
HP:0001347	Hyperreflexia	2895	GRID2	OMIM:616204
HP:0001347	Hyperreflexia	1161	ERCC8	ORPHA:90324
HP:0001347	Hyperreflexia	1161	ERCC8	ORPHA:90321
HP:0001347	Hyperreflexia	2074	ERCC6	ORPHA:90324
HP:0001347	Hyperreflexia	2074	ERCC6	ORPHA:90321
HP:0001347	Hyperreflexia	2074	ERCC6	OMIM:214150
HP:0001347	Hyperreflexia	51126	NAA20	OMIM:619717
HP:0001347	Hyperreflexia	7360	UGP2	OMIM:618744
HP:0001347	Hyperreflexia	1786	DNMT1	ORPHA:314404
HP:0001347	Hyperreflexia	1786	DNMT1	OMIM:604121
HP:0001347	Hyperreflexia	84942	WDR73	OMIM:251300
HP:0001347	Hyperreflexia	51	ACOX1	ORPHA:2971
HP:0001347	Hyperreflexia	2072	ERCC4	ORPHA:90321
HP:0001347	Hyperreflexia	2072	ERCC4	ORPHA:84
HP:0001347	Hyperreflexia	347733	TUBB2B	ORPHA:1766
HP:0001347	Hyperreflexia	124997	WDR81	ORPHA:1766
HP:0001347	Hyperreflexia	51761	ATP8A2	ORPHA:1766
HP:0001347	Hyperreflexia	767	CA8	ORPHA:1766
HP:0001347	Hyperreflexia	2731	GLDC	OMIM:605899
HP:0001347	Hyperreflexia	275	AMT	OMIM:605899
HP:0001347	Hyperreflexia	5521	PPP2R2B	OMIM:604326
HP:0001347	Hyperreflexia	5521	PPP2R2B	ORPHA:98762
HP:0001347	Hyperreflexia	5354	PLP1	ORPHA:99015
HP:0001347	Hyperreflexia	5354	PLP1	ORPHA:280229
HP:0001347	Hyperreflexia	5354	PLP1	OMIM:312920
HP:0001347	Hyperreflexia	4535	MT-ND1	ORPHA:255210
HP:0001347	Hyperreflexia	4536	MT-ND2	ORPHA:255210
HP:0001347	Hyperreflexia	4537	MT-ND3	ORPHA:255210
HP:0001347	Hyperreflexia	4538	MT-ND4	ORPHA:255210
HP:0001347	Hyperreflexia	4578	MT-TW	ORPHA:255210
HP:0001347	Hyperreflexia	4577	MT-TV	ORPHA:255210
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:255210
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:320360
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:225154
HP:0001347	Hyperreflexia	4540	MT-ND5	ORPHA:255210
HP:0001347	Hyperreflexia	4541	MT-ND6	ORPHA:255210
HP:0001347	Hyperreflexia	4566	MT-TK	ORPHA:255210
HP:0001347	Hyperreflexia	4566	MT-TK	ORPHA:1349
HP:0001347	Hyperreflexia	10908	PNPLA6	ORPHA:139480
HP:0001347	Hyperreflexia	10908	PNPLA6	OMIM:612020
HP:0001347	Hyperreflexia	65993	MRPS34	OMIM:617664
HP:0001347	Hyperreflexia	10300	KATNB1	OMIM:616212
HP:0001347	Hyperreflexia	51741	WWOX	OMIM:616211
HP:0001347	Hyperreflexia	1630	DCC	OMIM:617542
HP:0001347	Hyperreflexia	8722	CTSF	OMIM:615362
HP:0001347	Hyperreflexia	10528	NOP56	OMIM:614153
HP:0001347	Hyperreflexia	10528	NOP56	ORPHA:276198
HP:0001347	Hyperreflexia	10501	SEMA6B	OMIM:618876
HP:0001347	Hyperreflexia	146057	TTBK2	OMIM:604432
HP:0001347	Hyperreflexia	8575	PRKRA	ORPHA:210571
HP:0001347	Hyperreflexia	8575	PRKRA	OMIM:612067
HP:0001347	Hyperreflexia	9326	ZNHIT3	ORPHA:2836
HP:0001347	Hyperreflexia	9326	ZNHIT3	OMIM:260565
HP:0001347	Hyperreflexia	7920	ABHD16A	OMIM:619735
HP:0001347	Hyperreflexia	83480	PUS3	ORPHA:488627
HP:0001347	Hyperreflexia	1716	DGUOK	OMIM:251880
HP:0001347	Hyperreflexia	343641	TGM6	ORPHA:276193
HP:0001347	Hyperreflexia	343641	TGM6	OMIM:613908
HP:0001347	Hyperreflexia	22872	SEC31A	OMIM:618651
HP:0001347	Hyperreflexia	84504	NKX6-2	OMIM:617560
HP:0001347	Hyperreflexia	84504	NKX6-2	ORPHA:527497
HP:0001347	Hyperreflexia	83636	C19orf12	OMIM:614298
HP:0001347	Hyperreflexia	83636	C19orf12	OMIM:615043
HP:0001347	Hyperreflexia	5833	PCYT2	OMIM:618770
HP:0001347	Hyperreflexia	2783	GNB2	OMIM:619503
HP:0001347	Hyperreflexia	79731	NARS2	OMIM:616239
HP:0001347	Hyperreflexia	54832	VPS13C	ORPHA:2828
HP:0001347	Hyperreflexia	54832	VPS13C	OMIM:616840
HP:0001347	Hyperreflexia	120892	LRRK2	ORPHA:2828
HP:0001347	Hyperreflexia	9829	DNAJC6	ORPHA:2828
HP:0001347	Hyperreflexia	6622	SNCA	ORPHA:2828
HP:0001347	Hyperreflexia	6622	SNCA	ORPHA:171695
HP:0001347	Hyperreflexia	5420	PODXL	ORPHA:2828
HP:0001347	Hyperreflexia	65018	PINK1	ORPHA:2828
HP:0001347	Hyperreflexia	65018	PINK1	OMIM:605909
HP:0001347	Hyperreflexia	8867	SYNJ1	ORPHA:2828
HP:0001347	Hyperreflexia	5071	PRKN	ORPHA:2828
HP:0001347	Hyperreflexia	5071	PRKN	OMIM:600116
HP:0001347	Hyperreflexia	5373	PMM2	OMIM:212065
HP:0001347	Hyperreflexia	5192	PEX10	ORPHA:247815
HP:0001347	Hyperreflexia	5192	PEX10	ORPHA:44
HP:0001347	Hyperreflexia	10717	AP4B1	OMIM:614066
HP:0001347	Hyperreflexia	10717	AP4B1	ORPHA:280763
HP:0001347	Hyperreflexia	84879	MFSD2A	OMIM:616486
HP:0001347	Hyperreflexia	84879	MFSD2A	ORPHA:2512
HP:0001347	Hyperreflexia	11154	AP4S1	OMIM:614067
HP:0001347	Hyperreflexia	11154	AP4S1	ORPHA:280763
HP:0001347	Hyperreflexia	23259	DDHD2	OMIM:615033
HP:0001347	Hyperreflexia	27089	UQCRQ	OMIM:615159
HP:0001347	Hyperreflexia	55280	CWF19L1	OMIM:616127
HP:0001347	Hyperreflexia	54902	TTC19	OMIM:615157
HP:0001347	Hyperreflexia	8021	NUP214	OMIM:618426
HP:0001347	Hyperreflexia	6638	SNRPN	OMIM:105830
HP:0001347	Hyperreflexia	6638	SNRPN	ORPHA:177907
HP:0001347	Hyperreflexia	58	ACTA1	OMIM:161800
HP:0001347	Hyperreflexia	111	ADCY5	OMIM:606703
HP:0001347	Hyperreflexia	111	ADCY5	ORPHA:324588
HP:0001347	Hyperreflexia	79796	ALG9	ORPHA:79328
HP:0001347	Hyperreflexia	79796	ALG9	OMIM:608776
HP:0001347	Hyperreflexia	54828	BCAS3	OMIM:619641
HP:0001347	Hyperreflexia	122961	ISCA2	OMIM:616370
HP:0001347	Hyperreflexia	8733	GPAA1	ORPHA:529665
HP:0001347	Hyperreflexia	8733	GPAA1	OMIM:617810
HP:0001347	Hyperreflexia	7358	UGDH	OMIM:618792
HP:0001347	Hyperreflexia	10991	SLC38A3	OMIM:619881
HP:0001347	Hyperreflexia	59336	PRDM13	OMIM:619761
HP:0001347	Hyperreflexia	2720	GLB1	OMIM:230650
HP:0001347	Hyperreflexia	56947	MFF	ORPHA:485421
HP:0001347	Hyperreflexia	56947	MFF	OMIM:617086
HP:0001347	Hyperreflexia	773	CACNA1A	OMIM:617106
HP:0001347	Hyperreflexia	773	CACNA1A	ORPHA:2131
HP:0001347	Hyperreflexia	773	CACNA1A	ORPHA:98758
HP:0001347	Hyperreflexia	25973	PARS2	OMIM:618437
HP:0001347	Hyperreflexia	79971	WLS	OMIM:619648
HP:0001347	Hyperreflexia	57462	MYORG	OMIM:618317
HP:0001347	Hyperreflexia	11261	CHP1	OMIM:618438
HP:0001347	Hyperreflexia	2729	GCLC	ORPHA:33574
HP:0001347	Hyperreflexia	57192	MCOLN1	ORPHA:578
HP:0001347	Hyperreflexia	57192	MCOLN1	OMIM:252650
HP:0001347	Hyperreflexia	23299	BICD2	OMIM:615290
HP:0001347	Hyperreflexia	23299	BICD2	ORPHA:363454
HP:0001347	Hyperreflexia	23556	PIGN	OMIM:614080
HP:0001347	Hyperreflexia	23556	PIGN	ORPHA:280633
HP:0001347	Hyperreflexia	1436	CSF1R	OMIM:221820
HP:0001347	Hyperreflexia	1436	CSF1R	OMIM:618476
HP:0001347	Hyperreflexia	85365	ALG2	OMIM:607906
HP:0001347	Hyperreflexia	84833	ATP5MK	OMIM:618683
HP:0001347	Hyperreflexia	125988	MICOS13	OMIM:618329
HP:0001347	Hyperreflexia	2678	GGT1	OMIM:231950
HP:0001347	Hyperreflexia	6843	VAMP1	ORPHA:251282
HP:0001347	Hyperreflexia	6843	VAMP1	OMIM:108600
HP:0001347	Hyperreflexia	5654	HTRA1	OMIM:600142
HP:0001347	Hyperreflexia	10195	ALG3	OMIM:601110
HP:0001347	Hyperreflexia	81570	CLPB	OMIM:616271
HP:0001347	Hyperreflexia	81570	CLPB	ORPHA:445038
HP:0001347	Hyperreflexia	3658	IREB2	OMIM:618451
HP:0001347	Hyperreflexia	3763	KCNJ6	OMIM:614098
HP:0001347	Hyperreflexia	3763	KCNJ6	ORPHA:435628
HP:0001347	Hyperreflexia	22930	RAB3GAP1	OMIM:619420
HP:0001347	Hyperreflexia	22930	RAB3GAP1	OMIM:600118
HP:0001347	Hyperreflexia	2583	B4GALNT1	OMIM:609195
HP:0001347	Hyperreflexia	2583	B4GALNT1	ORPHA:101006
HP:0001347	Hyperreflexia	79751	SLC25A22	ORPHA:1935
HP:0001347	Hyperreflexia	150094	SIK1	ORPHA:1935
HP:0001347	Hyperreflexia	8905	AP1S2	OMIM:304340
HP:0001347	Hyperreflexia	54808	DYM	ORPHA:239
HP:0001347	Hyperreflexia	410	ARSA	OMIM:250100
HP:0001347	Hyperreflexia	149233	IL23R	ORPHA:117
HP:0001347	Hyperreflexia	6775	STAT4	ORPHA:117
HP:0001347	Hyperreflexia	3586	IL10	ORPHA:117
HP:0001347	Hyperreflexia	4210	MEFV	ORPHA:117
HP:0001347	Hyperreflexia	1230	CCR1	ORPHA:117
HP:0001347	Hyperreflexia	355	FAS	ORPHA:117
HP:0001347	Hyperreflexia	3592	IL12A	ORPHA:117
HP:0001347	Hyperreflexia	101928376	IL12A-AS1	ORPHA:117
HP:0001347	Hyperreflexia	3106	HLA-B	ORPHA:117
HP:0001347	Hyperreflexia	7099	TLR4	ORPHA:117
HP:0001347	Hyperreflexia	3459	IFNGR1	ORPHA:117
HP:0001347	Hyperreflexia	720	C4A	ORPHA:117
HP:0001347	Hyperreflexia	337867	UBAC2	ORPHA:117
HP:0001347	Hyperreflexia	51752	ERAP1	ORPHA:117
HP:0001347	Hyperreflexia	8302	KLRC4	ORPHA:117
HP:0001347	Hyperreflexia	7187	TRAF3	ORPHA:1930
HP:0001347	Hyperreflexia	81622	UNC93B1	ORPHA:1930
HP:0001347	Hyperreflexia	148022	TICAM1	ORPHA:1930
HP:0001347	Hyperreflexia	7098	TLR3	ORPHA:1930
HP:0001347	Hyperreflexia	29110	TBK1	ORPHA:1930
HP:0001347	Hyperreflexia	29110	TBK1	OMIM:616439
HP:0001347	Hyperreflexia	1203	CLN5	ORPHA:228360
HP:0001347	Hyperreflexia	84706	GPT2	OMIM:616281
HP:0001347	Hyperreflexia	84706	GPT2	ORPHA:477673
HP:0001347	Hyperreflexia	8504	PEX3	OMIM:617370
HP:0001347	Hyperreflexia	8504	PEX3	ORPHA:44
HP:0001347	Hyperreflexia	92840	REEP6	ORPHA:791
HP:0001347	Hyperreflexia	6094	ROM1	ORPHA:791
HP:0001347	Hyperreflexia	6017	RLBP1	ORPHA:791
HP:0001347	Hyperreflexia	7401	CLRN1	ORPHA:791
HP:0001347	Hyperreflexia	24	ABCA4	ORPHA:791
HP:0001347	Hyperreflexia	130557	ZNF513	ORPHA:791
HP:0001347	Hyperreflexia	582	BBS1	ORPHA:791
HP:0001347	Hyperreflexia	92211	CDHR1	ORPHA:791
HP:0001347	Hyperreflexia	23568	ARL2BP	ORPHA:791
HP:0001347	Hyperreflexia	6121	RPE65	ORPHA:791
HP:0001347	Hyperreflexia	54806	AHI1	ORPHA:791
HP:0001347	Hyperreflexia	6101	RP1	ORPHA:791
HP:0001347	Hyperreflexia	3419	IDH3A	ORPHA:791
HP:0001347	Hyperreflexia	4751	NEK2	ORPHA:791
HP:0001347	Hyperreflexia	346007	EYS	ORPHA:791
HP:0001347	Hyperreflexia	8100	IFT88	ORPHA:791
HP:0001347	Hyperreflexia	23020	SNRNP200	ORPHA:791
HP:0001347	Hyperreflexia	762	CA4	ORPHA:791
HP:0001347	Hyperreflexia	138050	HGSNAT	ORPHA:791
HP:0001347	Hyperreflexia	196	AHR	ORPHA:791
HP:0001347	Hyperreflexia	3614	IMPDH1	ORPHA:791
HP:0001347	Hyperreflexia	123016	TTC8	ORPHA:791
HP:0001347	Hyperreflexia	6103	RPGR	ORPHA:791
HP:0001347	Hyperreflexia	1406	CRX	ORPHA:791
HP:0001347	Hyperreflexia	5148	PDE6G	ORPHA:791
HP:0001347	Hyperreflexia	26160	IFT172	ORPHA:791
HP:0001347	Hyperreflexia	26121	PRPF31	ORPHA:791
HP:0001347	Hyperreflexia	583	BBS2	ORPHA:791
HP:0001347	Hyperreflexia	4117	MAK	ORPHA:791
HP:0001347	Hyperreflexia	25794	FSCN2	ORPHA:791
HP:0001347	Hyperreflexia	375298	CERKL	ORPHA:791
HP:0001347	Hyperreflexia	3420	IDH3B	ORPHA:791
HP:0001347	Hyperreflexia	57670	KIAA1549	ORPHA:791
HP:0001347	Hyperreflexia	7275	TUB	ORPHA:791
HP:0001347	Hyperreflexia	24148	PRPF6	ORPHA:791
HP:0001347	Hyperreflexia	23418	CRB1	ORPHA:791
HP:0001347	Hyperreflexia	10461	MERTK	ORPHA:791
HP:0001347	Hyperreflexia	57709	SLC7A14	ORPHA:791
HP:0001347	Hyperreflexia	768206	PRCD	ORPHA:791
HP:0001347	Hyperreflexia	7399	USH2A	ORPHA:791
HP:0001347	Hyperreflexia	23370	ARHGEF18	ORPHA:791
HP:0001347	Hyperreflexia	5949	RBP3	ORPHA:791
HP:0001347	Hyperreflexia	6010	RHO	ORPHA:791
HP:0001347	Hyperreflexia	6100	RP9	ORPHA:791
HP:0001347	Hyperreflexia	10002	NR2E3	ORPHA:791
HP:0001347	Hyperreflexia	9227	LRAT	ORPHA:791
HP:0001347	Hyperreflexia	84140	FAM161A	ORPHA:791
HP:0001347	Hyperreflexia	55812	SPATA7	ORPHA:791
HP:0001347	Hyperreflexia	79797	ZNF408	ORPHA:791
HP:0001347	Hyperreflexia	403	ARL3	ORPHA:791
HP:0001347	Hyperreflexia	5145	PDE6A	ORPHA:791
HP:0001347	Hyperreflexia	10210	TOPORS	ORPHA:791
HP:0001347	Hyperreflexia	8842	PROM1	ORPHA:791
HP:0001347	Hyperreflexia	9128	PRPF4	ORPHA:791
HP:0001347	Hyperreflexia	145226	RDH12	ORPHA:791
HP:0001347	Hyperreflexia	50939	IMPG2	ORPHA:791
HP:0001347	Hyperreflexia	8481	OFD1	ORPHA:791
HP:0001347	Hyperreflexia	49855	SCAPER	ORPHA:791
HP:0001347	Hyperreflexia	9742	IFT140	ORPHA:791
HP:0001347	Hyperreflexia	2979	GUCA1B	ORPHA:791
HP:0001347	Hyperreflexia	1259	CNGA1	ORPHA:791
HP:0001347	Hyperreflexia	1258	CNGB1	ORPHA:791
HP:0001347	Hyperreflexia	60509	AGBL5	ORPHA:791
HP:0001347	Hyperreflexia	5961	PRPH2	ORPHA:791
HP:0001347	Hyperreflexia	388939	PCARE	ORPHA:791
HP:0001347	Hyperreflexia	7439	BEST1	ORPHA:791
HP:0001347	Hyperreflexia	9785	DHX38	ORPHA:791
HP:0001347	Hyperreflexia	7287	TULP1	ORPHA:791
HP:0001347	Hyperreflexia	5995	RGR	ORPHA:791
HP:0001347	Hyperreflexia	9129	PRPF3	ORPHA:791
HP:0001347	Hyperreflexia	55975	KLHL7	ORPHA:791
HP:0001347	Hyperreflexia	3617	IMPG1	ORPHA:791
HP:0001347	Hyperreflexia	94137	RP1L1	ORPHA:791
HP:0001347	Hyperreflexia	5158	PDE6B	ORPHA:791
HP:0001347	Hyperreflexia	6102	RP2	ORPHA:791
HP:0001347	Hyperreflexia	55857	KIZ	ORPHA:791
HP:0001347	Hyperreflexia	64218	SEMA4A	ORPHA:791
HP:0001347	Hyperreflexia	4901	NRL	ORPHA:791
HP:0001347	Hyperreflexia	157657	CFAP418	ORPHA:791
HP:0001347	Hyperreflexia	10594	PRPF8	ORPHA:791
HP:0001347	Hyperreflexia	84100	ARL6	ORPHA:791
HP:0001347	Hyperreflexia	6295	SAG	ORPHA:791
HP:0001347	Hyperreflexia	79947	DHDDS	ORPHA:791
HP:0001347	Hyperreflexia	374291	NDUFS7	OMIM:618224
HP:0001347	Hyperreflexia	374291	NDUFS7	ORPHA:255241
HP:0001347	Hyperreflexia	126129	CPT1C	OMIM:616282
HP:0001347	Hyperreflexia	126129	CPT1C	ORPHA:444099
HP:0001347	Hyperreflexia	8573	CASK	OMIM:300749
HP:0001347	Hyperreflexia	85476	GFM1	OMIM:609060
HP:0001347	Hyperreflexia	4719	NDUFS1	OMIM:618226
HP:0001347	Hyperreflexia	4719	NDUFS1	ORPHA:255241
HP:0001347	Hyperreflexia	1798	DPAGT1	OMIM:608093
HP:0001347	Hyperreflexia	4720	NDUFS2	OMIM:618228
HP:0001347	Hyperreflexia	4720	NDUFS2	ORPHA:255241
HP:0001347	Hyperreflexia	4143	MAT1A	OMIM:250850
HP:0001347	Hyperreflexia	27235	COQ2	OMIM:146500
HP:0001347	Hyperreflexia	170302	ARX	OMIM:308350
HP:0001347	Hyperreflexia	170302	ARX	OMIM:300215
HP:0001347	Hyperreflexia	26275	HIBCH	ORPHA:88639
HP:0001347	Hyperreflexia	23114	NFASC	OMIM:618356
HP:0001347	Hyperreflexia	25814	ATXN10	OMIM:603516
HP:0001347	Hyperreflexia	25814	ATXN10	ORPHA:98761
HP:0001347	Hyperreflexia	55182	RNF220	OMIM:619688
HP:0001347	Hyperreflexia	518	ATP5MC3	OMIM:619681
HP:0001347	Hyperreflexia	116461	TSEN15	OMIM:617026
HP:0001347	Hyperreflexia	10978	CLP1	ORPHA:411493
HP:0001347	Hyperreflexia	10978	CLP1	OMIM:615803
HP:0001347	Hyperreflexia	8878	SQSTM1	OMIM:617145
HP:0001347	Hyperreflexia	8878	SQSTM1	ORPHA:275864
HP:0001347	Hyperreflexia	8878	SQSTM1	OMIM:616437
HP:0001347	Hyperreflexia	443	ASPA	ORPHA:314918
HP:0001347	Hyperreflexia	443	ASPA	ORPHA:314911
HP:0001347	Hyperreflexia	5053	PAH	OMIM:261600
HP:0001347	Hyperreflexia	5053	PAH	ORPHA:79254
HP:0001347	Hyperreflexia	29078	NDUFAF4	OMIM:618237
HP:0001347	Hyperreflexia	6833	ABCC8	OMIM:240800
HP:0001347	Hyperreflexia	55250	ELP2	OMIM:617270
HP:0001347	Hyperreflexia	56915	EXOSC5	OMIM:619576
HP:0001347	Hyperreflexia	51132	RLIM	OMIM:300978
HP:0001347	Hyperreflexia	25915	NDUFAF3	OMIM:618240
HP:0001347	Hyperreflexia	4125	MAN2B1	OMIM:248500
HP:0001347	Hyperreflexia	80224	NUBPL	OMIM:618242
HP:0001347	Hyperreflexia	8260	NAA10	OMIM:300855
HP:0001347	Hyperreflexia	7965	AIMP2	OMIM:618006
HP:0001347	Hyperreflexia	26999	CYFIP2	OMIM:618008
HP:0001347	Hyperreflexia	29920	PYCR2	ORPHA:481152
HP:0001347	Hyperreflexia	29920	PYCR2	OMIM:616420
HP:0001347	Hyperreflexia	29920	PYCR2	ORPHA:2512
HP:0001347	Hyperreflexia	549	AUH	OMIM:250950
HP:0001347	Hyperreflexia	25778	DSTYK	ORPHA:101003
HP:0001347	Hyperreflexia	25778	DSTYK	OMIM:270750
HP:0001347	Hyperreflexia	6045	RNF2	OMIM:619460
HP:0001347	Hyperreflexia	1781	DYNC1I2	OMIM:618492
HP:0001347	Hyperreflexia	112812	FDX2	OMIM:251900
HP:0001347	Hyperreflexia	29968	PSAT1	ORPHA:284417
HP:0001347	Hyperreflexia	51102	MECR	OMIM:617282
HP:0001347	Hyperreflexia	23258	DENND5A	OMIM:617281
HP:0001347	Hyperreflexia	9496	TBX4	ORPHA:261279
HP:0001347	Hyperreflexia	2743	GLRB	ORPHA:3197
HP:0001347	Hyperreflexia	2743	GLRB	OMIM:614619
HP:0001347	Hyperreflexia	2741	GLRA1	ORPHA:3197
HP:0001347	Hyperreflexia	10243	GPHN	ORPHA:3197
HP:0001347	Hyperreflexia	10243	GPHN	OMIM:615501
HP:0001347	Hyperreflexia	84896	ATAD1	ORPHA:3197
HP:0001347	Hyperreflexia	84896	ATAD1	OMIM:618011
HP:0001347	Hyperreflexia	9758	FRMPD4	OMIM:300983
HP:0001347	Hyperreflexia	80821	DDHD1	ORPHA:101008
HP:0001347	Hyperreflexia	80821	DDHD1	OMIM:609340
HP:0001347	Hyperreflexia	523	ATP6V1A	OMIM:618012
HP:0001347	Hyperreflexia	1200	TPP1	OMIM:609270
HP:0001347	Hyperreflexia	1200	TPP1	ORPHA:284324
HP:0001347	Hyperreflexia	84668	HYCC1	OMIM:610532
HP:0001347	Hyperreflexia	50801	KCNK4	OMIM:618381
HP:0001347	Hyperreflexia	11340	EXOSC8	OMIM:616081
HP:0001347	Hyperreflexia	11340	EXOSC8	ORPHA:2254
HP:0001347	Hyperreflexia	57498	KIDINS220	OMIM:617296
HP:0001347	Hyperreflexia	57003	CCDC47	OMIM:618268
HP:0001347	Hyperreflexia	1387	CREBBP	OMIM:180849
HP:0001347	Hyperreflexia	2033	EP300	OMIM:180849
HP:0001347	Hyperreflexia	9927	MFN2	OMIM:609260
HP:0001347	Hyperreflexia	92935	MARS2	ORPHA:314603
HP:0001347	Hyperreflexia	92935	MARS2	OMIM:611390
HP:0001347	Hyperreflexia	29926	GMPPA	ORPHA:869
HP:0001347	Hyperreflexia	29926	GMPPA	OMIM:615510
HP:0001347	Hyperreflexia	60684	TRAPPC11	ORPHA:869
HP:0001347	Hyperreflexia	8086	AAAS	ORPHA:869
HP:0001347	Hyperreflexia	8086	AAAS	OMIM:231550
HP:0001347	Hyperreflexia	7204	TRIO	OMIM:617061
HP:0001347	Hyperreflexia	22978	NT5C2	ORPHA:320396
HP:0001347	Hyperreflexia	22978	NT5C2	OMIM:613162
HP:0001347	Hyperreflexia	2571	GAD1	OMIM:619124
HP:0001347	Hyperreflexia	2760	GM2A	ORPHA:309246
HP:0001347	Hyperreflexia	2760	GM2A	OMIM:272750
HP:0001347	Hyperreflexia	440138	ALG11	ORPHA:280071
HP:0001347	Hyperreflexia	6472	SHMT2	OMIM:619121
HP:0001347	Hyperreflexia	5173	PDYN	ORPHA:101108
HP:0001347	Hyperreflexia	5173	PDYN	OMIM:610245
HP:0001347	Hyperreflexia	79143	MBOAT7	OMIM:617188
HP:0001347	Hyperreflexia	57038	RARS2	OMIM:611523
HP:0001347	Hyperreflexia	2593	GAMT	OMIM:612736
HP:0001347	Hyperreflexia	2617	GARS1	OMIM:600794
HP:0001347	Hyperreflexia	2617	GARS1	ORPHA:139536
HP:0001347	Hyperreflexia	25978	CHMP2B	OMIM:600795
HP:0001347	Hyperreflexia	25978	CHMP2B	ORPHA:275864
HP:0001347	Hyperreflexia	10084	PQBP1	OMIM:309500
HP:0001347	Hyperreflexia	23636	NUP62	ORPHA:225154
HP:0001347	Hyperreflexia	103	ADAR	ORPHA:225154
HP:0001347	Hyperreflexia	2629	GBA1	ORPHA:2072
HP:0001347	Hyperreflexia	2629	GBA1	OMIM:230900
HP:0001347	Hyperreflexia	6571	SLC18A2	OMIM:618049
HP:0001347	Hyperreflexia	777	CACNA1E	OMIM:618285
HP:0001347	Hyperreflexia	4668	NAGA	OMIM:609241
HP:0001347	Hyperreflexia	1968	EIF2S3	ORPHA:85282
HP:0001347	Hyperreflexia	1968	EIF2S3	OMIM:300148
HP:0001347	Hyperreflexia	84081	NSRP1	OMIM:620001
HP:0001347	Hyperreflexia	84153	RNASEH2C	OMIM:610329
HP:0001347	Hyperreflexia	114034	TOE1	ORPHA:284339
HP:0001347	Hyperreflexia	114034	TOE1	OMIM:614969
HP:0001347	Hyperreflexia	9562	MINPP1	ORPHA:284339
HP:0001347	Hyperreflexia	80704	SLC19A3	ORPHA:263410
HP:0001347	Hyperreflexia	80704	SLC19A3	ORPHA:255241
HP:0001347	Hyperreflexia	1496	CTNNA2	OMIM:618174
HP:0001347	Hyperreflexia	25793	FBXO7	OMIM:260300
HP:0001347	Hyperreflexia	25793	FBXO7	ORPHA:171695
HP:0001347	Hyperreflexia	55315	SLC29A3	ORPHA:168569
HP:0001347	Hyperreflexia	2896	GRN	ORPHA:275864
HP:0001347	Hyperreflexia	4137	MAPT	ORPHA:275864
HP:0001347	Hyperreflexia	54209	TREM2	ORPHA:275864
HP:0001347	Hyperreflexia	23236	PLCB1	OMIM:613722
HP:0001347	Hyperreflexia	27445	PCLO	OMIM:608027
HP:0001347	Hyperreflexia	11113	CIT	OMIM:617090
HP:0001347	Hyperreflexia	11113	CIT	ORPHA:2512
HP:0001347	Hyperreflexia	8506	CNTNAP1	OMIM:618186
HP:0001347	Hyperreflexia	9782	MATR3	OMIM:606070
HP:0001347	Hyperreflexia	9782	MATR3	ORPHA:600
HP:0001347	Hyperreflexia	83700	JAM3	OMIM:613730
HP:0001347	Hyperreflexia	1119	CHKA	OMIM:620023
HP:0001347	Hyperreflexia	51343	FZR1	OMIM:620145
HP:0001347	Hyperreflexia	4758	NEU1	OMIM:256550
HP:0001347	Hyperreflexia	51218	GLRX5	ORPHA:401866
HP:0001347	Hyperreflexia	51218	GLRX5	OMIM:616859
HP:0001347	Hyperreflexia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001347	Hyperreflexia	80055	PGAP1	OMIM:615802
HP:0001347	Hyperreflexia	80055	PGAP1	ORPHA:401820
HP:0001347	Hyperreflexia	23431	AP4E1	OMIM:613744
HP:0001347	Hyperreflexia	23431	AP4E1	ORPHA:280763
HP:0001347	Hyperreflexia	25839	COG4	ORPHA:263501
HP:0001347	Hyperreflexia	25839	COG4	OMIM:613489
HP:0001347	Hyperreflexia	2892	GRIA3	OMIM:300699
HP:0001347	Hyperreflexia	64324	NSD1	OMIM:117550
HP:0001347	Hyperreflexia	8913	CACNA1G	OMIM:618087
HP:0001347	Hyperreflexia	8913	CACNA1G	OMIM:616795
HP:0001347	Hyperreflexia	64207	IRF2BPL	OMIM:618088
HP:0001347	Hyperreflexia	340024	SLC6A19	OMIM:234500
HP:0001347	Hyperreflexia	340024	SLC6A19	ORPHA:2116
HP:0001347	Hyperreflexia	6575	SLC20A2	OMIM:213600
HP:0001347	Hyperreflexia	5155	PDGFB	OMIM:213600
HP:0001347	Hyperreflexia	5159	PDGFRB	OMIM:213600
HP:0001347	Hyperreflexia	64087	MCCC2	OMIM:210210
HP:0001347	Hyperreflexia	672	BRCA1	ORPHA:84
HP:0001347	Hyperreflexia	10459	MAD2L2	ORPHA:84
HP:0001347	Hyperreflexia	7516	XRCC2	ORPHA:84
HP:0001347	Hyperreflexia	29089	UBE2T	ORPHA:84
HP:0001347	Hyperreflexia	675	BRCA2	ORPHA:84
HP:0001347	Hyperreflexia	55120	FANCL	ORPHA:84
HP:0001347	Hyperreflexia	2177	FANCD2	ORPHA:84
HP:0001347	Hyperreflexia	2175	FANCA	ORPHA:84
HP:0001347	Hyperreflexia	2187	FANCB	ORPHA:84
HP:0001347	Hyperreflexia	2176	FANCC	ORPHA:84
HP:0001347	Hyperreflexia	2178	FANCE	ORPHA:84
HP:0001347	Hyperreflexia	2188	FANCF	ORPHA:84
HP:0001347	Hyperreflexia	2189	FANCG	ORPHA:84
HP:0001347	Hyperreflexia	5888	RAD51	ORPHA:84
HP:0001347	Hyperreflexia	5889	RAD51C	ORPHA:84
HP:0001347	Hyperreflexia	55159	RFWD3	ORPHA:84
HP:0001347	Hyperreflexia	83990	BRIP1	ORPHA:84
HP:0001347	Hyperreflexia	57697	FANCM	ORPHA:84
HP:0001347	Hyperreflexia	79728	PALB2	ORPHA:84
HP:0001347	Hyperreflexia	84464	SLX4	ORPHA:84
HP:0001347	Hyperreflexia	55215	FANCI	ORPHA:84
HP:0001347	Hyperreflexia	7276	TTR	OMIM:105210
HP:0001347	Hyperreflexia	9839	ZEB2	ORPHA:261552
HP:0001347	Hyperreflexia	26053	AUTS2	ORPHA:352490
HP:0001347	Hyperreflexia	26090	ABHD12	OMIM:612674
HP:0001347	Hyperreflexia	10352	WARS2	ORPHA:572798
HP:0001347	Hyperreflexia	10352	WARS2	OMIM:617710
HP:0001347	Hyperreflexia	56922	MCCC1	OMIM:210200
HP:0001347	Hyperreflexia	55157	DARS2	OMIM:611105
HP:0001347	Hyperreflexia	57338	JPH3	ORPHA:98934
HP:0001347	Hyperreflexia	57338	JPH3	OMIM:606438
HP:0001347	Hyperreflexia	3752	KCND3	ORPHA:98772
HP:0001347	Hyperreflexia	3752	KCND3	OMIM:607346
HP:0001347	Hyperreflexia	149371	EXOC8	OMIM:619076
HP:0001347	Hyperreflexia	6804	STX1A	ORPHA:904
HP:0001347	Hyperreflexia	7461	CLIP2	ORPHA:904
HP:0001347	Hyperreflexia	84277	DNAJC30	ORPHA:904
HP:0001347	Hyperreflexia	8468	FKBP6	ORPHA:904
HP:0001347	Hyperreflexia	5982	RFC2	ORPHA:904
HP:0001347	Hyperreflexia	2969	GTF2I	ORPHA:904
HP:0001347	Hyperreflexia	3984	LIMK1	ORPHA:904
HP:0001347	Hyperreflexia	9569	GTF2IRD1	ORPHA:904
HP:0001347	Hyperreflexia	155382	VPS37D	ORPHA:904
HP:0001347	Hyperreflexia	155368	METTL27	ORPHA:904
HP:0001347	Hyperreflexia	114049	BUD23	ORPHA:904
HP:0001347	Hyperreflexia	7458	EIF4H	ORPHA:904
HP:0001347	Hyperreflexia	84163	GTF2IRD2	ORPHA:904
HP:0001347	Hyperreflexia	9275	BCL7B	ORPHA:904
HP:0001347	Hyperreflexia	26608	TBL2	ORPHA:904
HP:0001347	Hyperreflexia	653361	NCF1	ORPHA:904
HP:0001347	Hyperreflexia	135886	TMEM270	ORPHA:904
HP:0001347	Hyperreflexia	51085	MLXIPL	ORPHA:904
HP:0001347	Hyperreflexia	51085	MLXIPL	OMIM:194050
HP:0001347	Hyperreflexia	9031	BAZ1B	ORPHA:904
HP:0001347	Hyperreflexia	23287	AGTPBP1	ORPHA:2254
HP:0001347	Hyperreflexia	51010	EXOSC3	ORPHA:2254
HP:0001347	Hyperreflexia	51010	EXOSC3	OMIM:614678
HP:0001347	Hyperreflexia	91137	SLC25A46	ORPHA:2254
HP:0001347	Hyperreflexia	91137	SLC25A46	OMIM:616505
HP:0001347	Hyperreflexia	6507	SLC1A3	ORPHA:2131
HP:0001347	Hyperreflexia	477	ATP1A2	ORPHA:2131
HP:0001347	Hyperreflexia	478	ATP1A3	ORPHA:2131
HP:0001347	Hyperreflexia	27286	SRPX2	ORPHA:98889
HP:0001347	Hyperreflexia	3708	ITPR1	ORPHA:98769
HP:0001347	Hyperreflexia	3708	ITPR1	OMIM:606658
HP:0001347	Hyperreflexia	80025	PANK2	OMIM:234200
HP:0001347	Hyperreflexia	80025	PANK2	ORPHA:216873
HP:0001347	Hyperreflexia	80025	PANK2	ORPHA:216866
HP:0001347	Hyperreflexia	11128	POLR3A	ORPHA:447896
HP:0001347	Hyperreflexia	11128	POLR3A	OMIM:607694
HP:0001347	Hyperreflexia	724066	ATXN8	ORPHA:98760
HP:0001347	Hyperreflexia	6315	ATXN8OS	ORPHA:98760
HP:0001347	Hyperreflexia	3251	HPRT1	OMIM:300322
HP:0001347	Hyperreflexia	3251	HPRT1	ORPHA:79233
HP:0001347	Hyperreflexia	6558	SLC12A2	OMIM:619080
HP:0001347	Hyperreflexia	55343	SLC35C1	ORPHA:99843
HP:0001347	Hyperreflexia	22880	MORC2	OMIM:619090
HP:0001347	Hyperreflexia	4677	NARS1	OMIM:619091
HP:0001347	Hyperreflexia	4677	NARS1	OMIM:619092
HP:0001347	Hyperreflexia	55670	PEX26	ORPHA:44
HP:0001347	Hyperreflexia	5828	PEX2	ORPHA:44
HP:0001347	Hyperreflexia	5190	PEX6	ORPHA:44
HP:0001347	Hyperreflexia	8799	PEX11B	ORPHA:44
HP:0001347	Hyperreflexia	5830	PEX5	ORPHA:44
HP:0001347	Hyperreflexia	5189	PEX1	ORPHA:44
HP:0001347	Hyperreflexia	5193	PEX12	ORPHA:44
HP:0001347	Hyperreflexia	5194	PEX13	ORPHA:44
HP:0001347	Hyperreflexia	5195	PEX14	ORPHA:44
HP:0001347	Hyperreflexia	546	ATRX	OMIM:309580
HP:0001347	Hyperreflexia	57393	CLTRN	ORPHA:2116
HP:0001347	Hyperreflexia	1384	CRAT	OMIM:617917
HP:0001347	Hyperreflexia	64116	SLC39A8	ORPHA:468699
HP:0001347	Hyperreflexia	64116	SLC39A8	OMIM:616721
HP:0001347	Hyperreflexia	200403	VWA3B	OMIM:616948
HP:0001347	Hyperreflexia	6314	ATXN7	ORPHA:94147
HP:0001347	Hyperreflexia	6314	ATXN7	OMIM:164500
HP:0001347	Hyperreflexia	2776	GNAQ	ORPHA:3205
HP:0001347	Hyperreflexia	51142	CHCHD2	OMIM:616710
HP:0001347	Hyperreflexia	57017	COQ9	OMIM:614654
HP:0001347	Hyperreflexia	80207	OPA3	OMIM:258501
HP:0001347	Hyperreflexia	3897	L1CAM	ORPHA:2466
HP:0001347	Hyperreflexia	57165	GJC2	OMIM:613206
HP:0001347	Hyperreflexia	57410	SCYL1	OMIM:616719
HP:0001347	Hyperreflexia	57410	SCYL1	ORPHA:466794
HP:0001347	Hyperreflexia	1861	TOR1A	OMIM:128100
HP:0001347	Hyperreflexia	4976	OPA1	OMIM:210000
HP:0001347	Hyperreflexia	10075	HUWE1	OMIM:309590
HP:0001347	Hyperreflexia	55906	ZC4H2	OMIM:301041
HP:0001347	Hyperreflexia	3736	KCNA1	OMIM:160120
HP:0001347	Hyperreflexia	23600	AMACR	OMIM:614307
HP:0001347	Hyperreflexia	113235	SLC46A1	ORPHA:90045
HP:0001347	Hyperreflexia	91147	TMEM67	OMIM:216360
HP:0001347	Hyperreflexia	91147	TMEM67	ORPHA:1454
HP:0001347	Hyperreflexia	9131	AIFM1	ORPHA:83629
HP:0001347	Hyperreflexia	55187	VPS13D	OMIM:607317
HP:0001347	Hyperreflexia	5859	QARS1	OMIM:615760
HP:0001347	Hyperreflexia	2782	GNB1	OMIM:616973
HP:0001347	Hyperreflexia	57505	AARS2	OMIM:615889
HP:0001347	Hyperreflexia	91869	RFT1	OMIM:612015
HP:0001347	Hyperreflexia	1644	DDC	OMIM:608643
HP:0001347	Hyperreflexia	54820	NDE1	OMIM:605013
HP:0001347	Hyperreflexia	54820	NDE1	OMIM:614019
HP:0001347	Hyperreflexia	6709	SPTAN1	OMIM:613477
HP:0001347	Hyperreflexia	4915	NTRK2	OMIM:617830
HP:0001347	Hyperreflexia	10342	TFG	OMIM:615658
HP:0001347	Hyperreflexia	100134444	KCNJ18	OMIM:613239
HP:0001347	Hyperreflexia	2917	GRM7	OMIM:618922
HP:0001347	Hyperreflexia	2138	EYA1	ORPHA:2792
HP:0001347	Hyperreflexia	5075	PAX1	ORPHA:2792
HP:0001347	Hyperreflexia	259232	NALCN	OMIM:615419
HP:0001347	Hyperreflexia	100506658	OCLN	ORPHA:1229
HP:0001347	Hyperreflexia	100506658	OCLN	OMIM:251290
HP:0001347	Hyperreflexia	5582	PRKCG	OMIM:605361
HP:0001347	Hyperreflexia	56623	INPP5E	ORPHA:1454
HP:0001347	Hyperreflexia	23322	RPGRIP1L	ORPHA:1454
HP:0001347	Hyperreflexia	57545	CC2D2A	ORPHA:1454
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276238
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276244
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276241
HP:0001347	Hyperreflexia	5498	PPOX	ORPHA:79473
HP:0001347	Hyperreflexia	56978	PRDM8	OMIM:616640
HP:0001347	Hyperreflexia	56978	PRDM8	ORPHA:324290
HP:0001347	Hyperreflexia	81689	ISCA1	OMIM:617613
HP:0001347	Hyperreflexia	6697	SPR	ORPHA:70594
HP:0001347	Hyperreflexia	2670	GFAP	ORPHA:363722
HP:0001347	Hyperreflexia	2670	GFAP	ORPHA:363717
HP:0001347	Hyperreflexia	122553	TRAPPC6B	OMIM:617862
HP:0001347	Hyperreflexia	1806	DPYD	ORPHA:1675
HP:0001347	Hyperreflexia	79867	TCTN2	OMIM:616654
HP:0001347	Hyperreflexia	57570	TRMT5	OMIM:616539
HP:0001347	Hyperreflexia	55704	CCDC88A	OMIM:617507
HP:0001347	Hyperreflexia	6785	ELOVL4	OMIM:133190
HP:0001347	Hyperreflexia	617	BCS1L	OMIM:124000
HP:0001347	Hyperreflexia	91942	NDUFAF2	ORPHA:255241
HP:0001347	Hyperreflexia	4723	NDUFV1	ORPHA:255241
HP:0001347	Hyperreflexia	55572	FOXRED1	ORPHA:255241
HP:0001347	Hyperreflexia	4729	NDUFV2	ORPHA:255241
HP:0001347	Hyperreflexia	55967	NDUFA12	ORPHA:255241
HP:0001347	Hyperreflexia	51204	TACO1	ORPHA:255241
HP:0001347	Hyperreflexia	4724	NDUFS4	ORPHA:255241
HP:0001347	Hyperreflexia	4724	NDUFS4	OMIM:252010
HP:0001347	Hyperreflexia	137682	NDUFAF6	ORPHA:255241
HP:0001347	Hyperreflexia	4722	NDUFS3	ORPHA:255241
HP:0001347	Hyperreflexia	79133	NDUFAF5	ORPHA:255241
HP:0001347	Hyperreflexia	5160	PDHA1	ORPHA:255241
HP:0001347	Hyperreflexia	1355	COX15	ORPHA:255241
HP:0001347	Hyperreflexia	1892	ECHS1	ORPHA:255241
HP:0001347	Hyperreflexia	123263	MTFMT	ORPHA:255241
HP:0001347	Hyperreflexia	51079	NDUFA13	ORPHA:255241
HP:0001347	Hyperreflexia	4705	NDUFA10	ORPHA:255241
HP:0001347	Hyperreflexia	51601	LIPT1	ORPHA:255241
HP:0001347	Hyperreflexia	4695	NDUFA2	ORPHA:255241
HP:0001347	Hyperreflexia	4704	NDUFA9	ORPHA:255241
HP:0001347	Hyperreflexia	54888	NSUN2	OMIM:611091
HP:0001347	Hyperreflexia	440	ASNS	OMIM:615574
HP:0001347	Hyperreflexia	51294	PCDH12	OMIM:251280
HP:0001347	Hyperreflexia	8139	GAN	OMIM:256850
HP:0001347	Hyperreflexia	9276	COPB2	ORPHA:2512
HP:0001347	Hyperreflexia	9928	KIF14	ORPHA:2512
HP:0001347	Hyperreflexia	22995	CEP152	ORPHA:2512
HP:0001347	Hyperreflexia	55262	TRAPPC14	ORPHA:2512
HP:0001347	Hyperreflexia	163786	SASS6	ORPHA:2512
HP:0001347	Hyperreflexia	4176	MCM7	ORPHA:2512
HP:0001347	Hyperreflexia	80254	CEP63	ORPHA:2512
HP:0001347	Hyperreflexia	29081	METTL5	ORPHA:2512
HP:0001347	Hyperreflexia	23310	NCAPD3	ORPHA:2512
HP:0001347	Hyperreflexia	55755	CDK5RAP2	ORPHA:2512
HP:0001347	Hyperreflexia	79648	MCPH1	ORPHA:2512
HP:0001347	Hyperreflexia	6491	STIL	ORPHA:2512
HP:0001347	Hyperreflexia	23141	ANKLE2	ORPHA:2512
HP:0001347	Hyperreflexia	259266	ASPM	ORPHA:2512
HP:0001347	Hyperreflexia	7109	TRAPPC10	ORPHA:2512
HP:0001347	Hyperreflexia	1911	PHC1	ORPHA:2512
HP:0001347	Hyperreflexia	6884	TAF13	ORPHA:2512
HP:0001347	Hyperreflexia	9662	CEP135	ORPHA:2512
HP:0001347	Hyperreflexia	55835	CENPJ	ORPHA:2512
HP:0001347	Hyperreflexia	57082	KNL1	ORPHA:2512
HP:0001347	Hyperreflexia	1021	CDK6	ORPHA:2512
HP:0001347	Hyperreflexia	51663	ZFR	ORPHA:401840
HP:0001347	Hyperreflexia	2182	ACSL4	OMIM:300387
HP:0001347	Hyperreflexia	51075	TMX2	OMIM:618730
HP:0001347	Hyperreflexia	18	ABAT	OMIM:613163
HP:0001347	Hyperreflexia	2902	GRIN1	OMIM:614254
HP:0001347	Hyperreflexia	9907	AP5Z1	ORPHA:306511
HP:0001347	Hyperreflexia	5630	PRPH	OMIM:105400
HP:0001347	Hyperreflexia	1639	DCTN1	OMIM:105400
HP:0001347	Hyperreflexia	4744	NEFH	OMIM:105400
HP:0001347	Hyperreflexia	158	ADSL	OMIM:103050
HP:0001347	Hyperreflexia	10466	COG5	ORPHA:263487
HP:0001347	Hyperreflexia	8367	H4C5	OMIM:619950
HP:0001347	Hyperreflexia	10785	WDR4	OMIM:618346
HP:0001347	Hyperreflexia	4574	MT-TS1	OMIM:220110
HP:0001347	Hyperreflexia	4574	MT-TS1	ORPHA:663
HP:0001347	Hyperreflexia	4570	MT-TN	OMIM:220110
HP:0001347	Hyperreflexia	4570	MT-TN	ORPHA:663
HP:0001347	Hyperreflexia	6834	SURF1	OMIM:220110
HP:0001347	Hyperreflexia	5393	EXOSC9	OMIM:618065
HP:0001347	Hyperreflexia	6418	SET	OMIM:618106
HP:0001347	Hyperreflexia	6323	SCN1A	OMIM:619317
HP:0001347	Hyperreflexia	5457	POU4F1	ORPHA:314647
HP:0001347	Hyperreflexia	23261	CAMTA1	ORPHA:314647
HP:0001347	Hyperreflexia	4568	MT-TL2	ORPHA:663
HP:0001347	Hyperreflexia	4567	MT-TL1	ORPHA:663
HP:0001347	Hyperreflexia	26580	BSCL2	ORPHA:363400
HP:0001347	Hyperreflexia	81790	RNF170	OMIM:619686
HP:0001347	Hyperreflexia	56997	COQ8A	ORPHA:139485
HP:0001347	Hyperreflexia	1352	COX10	OMIM:619046
HP:0001347	Hyperreflexia	10157	AASS	ORPHA:2203
HP:0001347	Hyperreflexia	2067	ERCC1	OMIM:610758
HP:0001347	Hyperreflexia	84679	SLC9A7	OMIM:301024
HP:0001347	Hyperreflexia	284403	WDR62	OMIM:604317
HP:0001347	Hyperreflexia	4784	NFIX	OMIM:602535
HP:0001347	Hyperreflexia	25929	GEMIN5	OMIM:619333
HP:0001347	Hyperreflexia	2660	MSTN	OMIM:614160
HP:0001347	Hyperreflexia	5119	CHMP1A	OMIM:614961
HP:0001347	Hyperreflexia	64834	ELOVL1	OMIM:618527
HP:0001347	Hyperreflexia	54834	GDAP2	OMIM:618369
HP:0001347	Hyperreflexia	3778	KCNMA1	OMIM:609446
HP:0001347	Hyperreflexia	9377	COX5A	OMIM:619064
HP:0001347	Hyperreflexia	11315	PARK7	OMIM:606324
HP:0001347	Hyperreflexia	23203	PMPCA	ORPHA:1170
HP:0001347	Hyperreflexia	4697	NDUFA4	OMIM:619065
HP:0001347	Hyperreflexia	5277	PIGA	OMIM:300868
HP:0001347	Hyperreflexia	5277	PIGA	OMIM:301072
HP:0001347	Hyperreflexia	132158	GLYCTK	OMIM:220120
HP:0001347	Hyperreflexia	54664	TMEM106B	OMIM:617964
HP:0001347	Hyperreflexia	9152	SLC6A5	OMIM:614618
HP:0001347	Hyperreflexia	1267	CNP	OMIM:619071
HP:0001347	Hyperreflexia	2911	GRM1	OMIM:617691
HP:0001347	Hyperreflexia	5063	PAK3	OMIM:300558
HP:0001347	Hyperreflexia	58494	JAM2	OMIM:618824
HP:0001347	Hyperreflexia	2517	FUCA1	OMIM:230000
HP:0001347	Hyperreflexia	57863	CADM3	OMIM:619519
HP:0001347	Hyperreflexia	91461	PKDCC	OMIM:618821
HP:0001347	Hyperreflexia	90624	LYRM7	OMIM:615838
HP:0001347	Hyperreflexia	166785	MMAA	OMIM:251100
HP:0001347	Hyperreflexia	23137	SMC5	OMIM:620185
HP:0001347	Hyperreflexia	1615	DARS1	OMIM:615281
HP:0001347	Hyperreflexia	51124	IER3IP1	OMIM:614231
HP:0001347	Hyperreflexia	9474	ATG5	OMIM:617584
HP:0001347	Hyperreflexia	10531	PITRM1	OMIM:619405
HP:0001347	Hyperreflexia	54676	GTPBP2	OMIM:617988
HP:0001347	Hyperreflexia	84919	PPP1R15B	OMIM:616817
HP:0001347	Hyperreflexia	84919	PPP1R15B	ORPHA:391408
HP:0001347	Hyperreflexia	7443	VRK1	OMIM:607596
HP:0001347	Hyperreflexia	93587	TRMT10A	ORPHA:391408
HP:0001347	Hyperreflexia	2799	GNS	OMIM:252940
HP:0001347	Hyperreflexia	6904	TBCD	OMIM:617193
HP:0001347	Hyperreflexia	57479	PRR12	OMIM:619539
HP:0001347	Hyperreflexia	2733	GLE1	OMIM:611890
HP:0001347	Hyperreflexia	2006	ELN	ORPHA:90348
HP:0001347	Hyperreflexia	10516	FBLN5	ORPHA:90348
HP:0001347	Hyperreflexia	5824	PEX19	OMIM:614886
HP:0001347	Hyperreflexia	85021	REPS1	OMIM:617916
HP:0001347	Hyperreflexia	3954	LETM1	OMIM:620089
HP:0001347	Hyperreflexia	64432	MRPS25	OMIM:619025
HP:0001347	Hyperreflexia	587	BCAT2	OMIM:618850
HP:0001347	Hyperreflexia	51645	PPIL1	OMIM:619301
HP:0001347	Hyperreflexia	51362	CDC40	OMIM:619302
HP:0001347	Hyperreflexia	84274	COQ5	OMIM:619028
HP:0001347	Hyperreflexia	10844	TUBGCP2	OMIM:618737
HP:0001347	Hyperreflexia	23064	SETX	OMIM:602433
HP:0001347	Hyperreflexia	10749	KIF1C	ORPHA:397946
HP:0001347	Hyperreflexia	3064	HTT	ORPHA:399
HP:0001347	Hyperreflexia	6515	SLC2A3	ORPHA:399
HP:0001347	Hyperreflexia	5091	PC	OMIM:266150
HP:0001347	Hyperreflexia	9897	WASHC5	ORPHA:100989
HP:0001347	Hyperreflexia	9197	SLC33A1	ORPHA:171863
HP:0001347	Hyperreflexia	9853	RUSC2	OMIM:617773
HP:0001347	Hyperreflexia	10367	MICU1	OMIM:615673
HP:0001347	Hyperreflexia	51501	HIKESHI	OMIM:616881
HP:0001347	Hyperreflexia	6711	SPTBN1	OMIM:619475
HP:0001347	Hyperreflexia	23446	SLC44A1	OMIM:618868
HP:0001347	Hyperreflexia	22948	CCT5	ORPHA:139578
HP:0001347	Hyperreflexia	22948	CCT5	OMIM:256840
HP:0001347	Hyperreflexia	92609	TIMM50	OMIM:617698
HP:0001347	Hyperreflexia	92609	TIMM50	ORPHA:505216
HP:0001347	Hyperreflexia	51091	SEPSECS	OMIM:613811
HP:0001347	Hyperreflexia	10613	ERLIN1	ORPHA:401785
HP:0001347	Hyperreflexia	10613	ERLIN1	OMIM:615681
HP:0001347	Hyperreflexia	23503	ZFYVE26	OMIM:270700
HP:0001347	Hyperreflexia	123606	NIPA1	OMIM:600363
HP:0001347	Hyperreflexia	29925	GMPPB	ORPHA:370959
HP:0001347	Hyperreflexia	79147	FKRP	ORPHA:370959
HP:0001347	Hyperreflexia	29954	POMT2	ORPHA:370959
HP:0001347	Hyperreflexia	84197	POMK	ORPHA:370959
HP:0001347	Hyperreflexia	55624	POMGNT1	ORPHA:370959
HP:0001347	Hyperreflexia	10585	POMT1	ORPHA:370959
HP:0001347	Hyperreflexia	2521	FUS	ORPHA:300605
HP:0001347	Hyperreflexia	80208	SPG11	ORPHA:300605
HP:0001347	Hyperreflexia	10280	SIGMAR1	ORPHA:300605
HP:0001347	Hyperreflexia	10558	SPTLC1	ORPHA:300605
HP:0001347	Hyperreflexia	57679	ALS2	ORPHA:300605
HP:0001347	Hyperreflexia	57679	ALS2	OMIM:205100
HP:0001347	Hyperreflexia	3785	KCNQ2	ORPHA:1949
HP:0001347	Hyperreflexia	3786	KCNQ3	ORPHA:1949
HP:0001347	Hyperreflexia	6567	SLC16A2	OMIM:300523
HP:0001347	Hyperreflexia	6536	SLC6A9	OMIM:617301
HP:0001347	Hyperreflexia	51506	UFC1	OMIM:618076
HP:0001347	Hyperreflexia	1841	DTYMK	OMIM:619847
HP:0001347	Hyperreflexia	271	AMPD2	OMIM:615686
HP:0001347	Hyperreflexia	271	AMPD2	OMIM:615809
HP:0001347	Hyperreflexia	9409	PEX16	OMIM:614877
HP:0001347	Hyperreflexia	9440	MED17	OMIM:613668
HP:0001347	Hyperreflexia	25782	RAB3GAP2	OMIM:212720
HP:0001347	Hyperreflexia	57582	KCNT1	OMIM:614959
HP:0001347	Hyperreflexia	4952	OCRL	ORPHA:534
HP:0001347	Hyperreflexia	1759	DNM1	OMIM:620352
HP:0001347	Hyperreflexia	10166	SLC25A15	ORPHA:415
HP:0001347	Hyperreflexia	10166	SLC25A15	OMIM:238970
HP:0001347	Hyperreflexia	9101	USP8	ORPHA:401795
HP:0001347	Hyperreflexia	11117	EMILIN1	OMIM:620080
HP:0001347	Hyperreflexia	137492	VPS37A	ORPHA:319199
HP:0001347	Hyperreflexia	137492	VPS37A	OMIM:614898
HP:0001347	Hyperreflexia	22906	TRAK1	OMIM:618201
HP:0001347	Hyperreflexia	100131801	PET100	OMIM:619055
HP:0001347	Hyperreflexia	51227	PIGP	OMIM:617599
HP:0001347	Hyperreflexia	80746	TSEN2	OMIM:612389
HP:0001347	Hyperreflexia	819	CAMLG	OMIM:620201
HP:0001347	Hyperreflexia	4693	NDP	ORPHA:649
HP:0001347	Hyperreflexia	6509	SLC1A4	ORPHA:447997
HP:0001347	Hyperreflexia	2801	GOLGA2	OMIM:620240
HP:0001347	Hyperreflexia	28962	OSTM1	OMIM:259720
HP:0001347	Hyperreflexia	5805	PTS	ORPHA:13
HP:0001347	Hyperreflexia	22	ABCB7	OMIM:301310
HP:0001347	Hyperreflexia	6253	RTN2	ORPHA:100993
HP:0001347	Hyperreflexia	51271	UBAP1	ORPHA:100993
HP:0001347	Hyperreflexia	857	CAV1	OMIM:606721
HP:0001347	Hyperreflexia	3839	KPNA3	ORPHA:171612
HP:0001347	Hyperreflexia	23028	KDM1A	ORPHA:477993
HP:0001347	Hyperreflexia	4633	MYL2	OMIM:619424
HP:0001347	Hyperreflexia	58497	PRUNE1	OMIM:617481
HP:0001347	Hyperreflexia	58497	PRUNE1	ORPHA:544469
HP:0001347	Hyperreflexia	133686	NADK2	OMIM:616034
HP:0001347	Hyperreflexia	246243	RNASEH1	OMIM:616479
HP:0001347	Hyperreflexia	27429	HTRA2	OMIM:617248
HP:0001347	Hyperreflexia	221927	BRAT1	OMIM:614498
HP:0001347	Hyperreflexia	89874	SLC25A21	OMIM:618811
HP:0001347	Hyperreflexia	4001	LMNB1	ORPHA:99027
HP:0001347	Hyperreflexia	3475	IFRD1	ORPHA:98771
HP:0001347	Hyperreflexia	85465	SELENOI	ORPHA:506353
HP:0001347	Hyperreflexia	51062	ATL1	ORPHA:100984
HP:0001347	Hyperreflexia	113612	CYP2U1	OMIM:615030
HP:0001347	Hyperreflexia	113612	CYP2U1	ORPHA:320411
HP:0001347	Hyperreflexia	91574	MTRFR	ORPHA:254930
HP:0001347	Hyperreflexia	57128	LYRM4	OMIM:615595
HP:0001347	Hyperreflexia	11277	TREX1	OMIM:192315
HP:0001347	Hyperreflexia	2643	GCH1	ORPHA:98808
HP:0001347	Hyperreflexia	4929	NR4A2	ORPHA:98808
HP:0001347	Hyperreflexia	3615	IMPDH2	ORPHA:98808
HP:0001347	Hyperreflexia	7701	ZNF142	OMIM:618425
HP:0001347	Hyperreflexia	5361	PLXNA1	OMIM:619955
HP:0001347	Hyperreflexia	55823	VPS11	OMIM:619637
HP:0001347	Hyperreflexia	23345	SYNE1	OMIM:610743
HP:0001347	Hyperreflexia	9256	TSPOAP1	ORPHA:101150
HP:0001347	Hyperreflexia	7054	TH	ORPHA:101150
HP:0001347	Hyperreflexia	7345	UCHL1	OMIM:620221
HP:0001347	Hyperreflexia	10060	ABCC9	OMIM:619719
HP:0001347	Hyperreflexia	285362	SUMF1	OMIM:272200
HP:0001347	Hyperreflexia	6687	SPG7	ORPHA:99013
HP:0001347	Hyperreflexia	10939	AFG3L2	ORPHA:101109
HP:0001347	Hyperreflexia	10939	AFG3L2	OMIM:610246
HP:0001347	Hyperreflexia	5010	CLDN11	OMIM:619328
HP:0001347	Hyperreflexia	57156	TMEM63C	OMIM:619966
HP:0001347	Hyperreflexia	5832	ALDH18A1	OMIM:219150
HP:0001347	Hyperreflexia	5832	ALDH18A1	ORPHA:447753
HP:0001347	Hyperreflexia	5832	ALDH18A1	OMIM:601162
HP:0001347	Hyperreflexia	5832	ALDH18A1	ORPHA:447760
HP:0001347	Hyperreflexia	9215	LARGE1	OMIM:608840
HP:0001347	Hyperreflexia	10667	FARS2	ORPHA:466722
HP:0001347	Hyperreflexia	10667	FARS2	OMIM:617046
HP:0001347	Hyperreflexia	8869	ST3GAL5	OMIM:609056
HP:0001347	Hyperreflexia	7337	UBE3A	ORPHA:98794
HP:0001347	Hyperreflexia	7337	UBE3A	ORPHA:98795
HP:0001347	Hyperreflexia	7337	UBE3A	ORPHA:411511
HP:0001347	Hyperreflexia	4948	OCA2	ORPHA:98794
HP:0001347	Hyperreflexia	547	KIF1A	ORPHA:101010
HP:0001347	Hyperreflexia	65055	REEP1	ORPHA:101011
HP:0001347	Hyperreflexia	8813	DPM1	OMIM:608799
HP:0001347	Hyperreflexia	348	APOE	OMIM:607822
HP:0001347	Hyperreflexia	5663	PSEN1	OMIM:607822
HP:0001347	Hyperreflexia	8242	KDM5C	OMIM:300534
HP:0001347	Hyperreflexia	7143	TNR	OMIM:619653
HP:0001347	Hyperreflexia	5917	RARS1	OMIM:616140
HP:0001347	Hyperreflexia	339855	KY	ORPHA:496689
HP:0001347	Hyperreflexia	22943	DKK1	ORPHA:268882
HP:0001347	Hyperreflexia	8622	PDE8B	OMIM:609161
HP:0001347	Hyperreflexia	7436	VLDLR	OMIM:224050
HP:0001347	Hyperreflexia	3930	LBR	OMIM:169400
HP:0001347	Hyperreflexia	7415	VCP	ORPHA:329475
HP:0001347	Hyperreflexia	1737	DLAT	ORPHA:79244
HP:0001347	Hyperreflexia	4556	MT-TE	ORPHA:2596
HP:0001347	Hyperreflexia	823	CAPN1	OMIM:616907
HP:0001347	Hyperreflexia	823	CAPN1	ORPHA:488594
HP:0001347	Hyperreflexia	84188	FAR1	ORPHA:447753
HP:0001347	Hyperreflexia	6872	TAF1	ORPHA:480907
HP:0001347	Hyperreflexia	10943	MSL3	OMIM:301032
HP:0001347	Hyperreflexia	2512	FTL	ORPHA:157846
HP:0001347	Hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0001347	Hyperreflexia	54903	MKS1	OMIM:617121
HP:0001347	Hyperreflexia	8295	TRRAP	OMIM:618454
HP:0001347	Hyperreflexia	84842	HPDL	OMIM:619027
HP:0001347	Hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0001347	Hyperreflexia	2705	GJB1	OMIM:302800
HP:0001347	Hyperreflexia	2705	GJB1	ORPHA:1175
HP:0001347	Hyperreflexia	51308	REEP2	OMIM:615625
HP:0001347	Hyperreflexia	2752	GLUL	OMIM:610015
HP:0001347	Hyperreflexia	9711	RUBCN	OMIM:615705
HP:0001347	Hyperreflexia	219285	SAMD9L	OMIM:159550
HP:0001347	Hyperreflexia	10059	DNM1L	ORPHA:330050
HP:0001347	Hyperreflexia	10159	ATP6AP2	ORPHA:363654
HP:0001347	Hyperreflexia	56006	SMG9	OMIM:616920
HP:0001347	Hyperreflexia	10273	STUB1	ORPHA:412057
HP:0001347	Hyperreflexia	6389	SDHA	ORPHA:3208
HP:0001347	Hyperreflexia	6390	SDHB	ORPHA:3208
HP:0001347	Hyperreflexia	6392	SDHD	ORPHA:3208
HP:0001347	Hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0001347	Hyperreflexia	4361	MRE11	ORPHA:251347
HP:0001347	Hyperreflexia	3748	KCNC3	ORPHA:98768
HP:0001347	Hyperreflexia	1678	TIMM8A	ORPHA:52368
HP:0001347	Hyperreflexia	5631	PRPS1	ORPHA:423479
HP:0001347	Hyperreflexia	5621	PRNP	ORPHA:157941
HP:0001347	Hyperreflexia	131669	UROC1	ORPHA:210128
HP:0001347	Hyperreflexia	8492	PRSS12	OMIM:249500
HP:0001347	Hyperreflexia	2581	GALC	OMIM:245200
HP:0001347	Hyperreflexia	2581	GALC	ORPHA:206448
HP:0001347	Hyperreflexia	4081	MAB21L1	OMIM:618479
HP:0001347	Hyperreflexia	128989	TANGO2	OMIM:616878
HP:0001347	Hyperreflexia	146227	BEAN1	ORPHA:217012
HP:0001347	Hyperreflexia	6311	ATXN2	ORPHA:98756
HP:0001347	Hyperreflexia	4204	MECP2	ORPHA:3077
HP:0001347	Hyperreflexia	6513	SLC2A1	ORPHA:98811
HP:0001347	Hyperreflexia	112476	PRRT2	ORPHA:98811
HP:0001347	Hyperreflexia	2697	GJA1	OMIM:164200
HP:0001347	Hyperreflexia	5376	PMP22	ORPHA:101081
HP:0001347	Hyperreflexia	6310	ATXN1	ORPHA:98755
HP:0001347	Hyperreflexia	1938	EEF2	ORPHA:101112
HP:0001347	Hyperreflexia	404672	GTF2H5	ORPHA:33364
HP:0001347	Hyperreflexia	2068	ERCC2	ORPHA:33364
HP:0001347	Hyperreflexia	7737	RNF113A	ORPHA:33364
HP:0001347	Hyperreflexia	136647	MPLKIP	ORPHA:33364
HP:0001347	Hyperreflexia	6897	TARS1	ORPHA:33364
HP:0001347	Hyperreflexia	2071	ERCC3	ORPHA:33364
HP:0001347	Hyperreflexia	2961	GTF2E2	ORPHA:33364
HP:0001347	Hyperreflexia	8604	SLC25A12	OMIM:612949
HP:0001347	Hyperreflexia	23769	FLRT1	ORPHA:320406
HP:0001347	Hyperreflexia	200205	IBA57	ORPHA:468661
HP:0001347	Hyperreflexia	4841	NONO	ORPHA:466791
HP:0001347	Hyperreflexia	1327	COX4I1	OMIM:619060
HP:0001347	Hyperreflexia	3074	HEXB	ORPHA:309155
HP:0001347	Hyperreflexia	55149	MTPAP	OMIM:613672
HP:0001347	Hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0001347	Hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0001347	Hyperreflexia	5238	PGM3	ORPHA:443811
HP:0001347	Hyperreflexia	3035	HARS1	OMIM:614504
HP:0001347	Hyperreflexia	3035	HARS1	OMIM:616625
HP:0001347	Hyperreflexia	26278	SACS	OMIM:270550
HP:0001347	Hyperreflexia	3329	HSPD1	ORPHA:100994
HP:0001347	Hyperreflexia	9517	SPTLC2	OMIM:613640
HP:0001347	Hyperreflexia	4728	NDUFS8	OMIM:618222
HP:0001347	Hyperreflexia	55697	VAC14	OMIM:617054
HP:0001347	Hyperreflexia	6683	SPAST	ORPHA:100985
HP:0001347	Hyperreflexia	51604	PIGT	OMIM:615398
HP:0001347	Hyperreflexia	9420	CYP7B1	ORPHA:100986
HP:0001347	Hyperreflexia	23516	SLC39A14	OMIM:617013
HP:0001347	Hyperreflexia	23516	SLC39A14	ORPHA:521406
HP:0001347	Hyperreflexia	22931	RAB18	OMIM:614222
HP:0001347	Hyperreflexia	1593	CYP27A1	OMIM:213700
HP:0001347	Hyperreflexia	959	CD40LG	OMIM:308230
HP:0001347	Hyperreflexia	64837	KLC2	OMIM:609541
HP:0001347	Hyperreflexia	2258	FGF13	OMIM:301058
HP:0001347	Hyperreflexia	440193	CCDC88C	OMIM:616053
HP:0001347	Hyperreflexia	6647	SOD1	OMIM:618598
HP:0001347	Hyperreflexia	84340	GFM2	OMIM:618397
HP:0001347	Hyperreflexia	84340	GFM2	ORPHA:565624
HP:0001347	Hyperreflexia	79152	FA2H	ORPHA:171629
HP:0001347	Hyperreflexia	79152	FA2H	OMIM:612319
HP:0001347	Hyperreflexia	9338	TCEAL1	OMIM:301094
HP:0001347	Hyperreflexia	5456	POU3F4	ORPHA:1435
HP:0001347	Hyperreflexia	16	AARS1	OMIM:619691
HP:0001347	Hyperreflexia	9289	ADGRG1	OMIM:606854
HP:0001347	Hyperreflexia	215	ABCD1	ORPHA:139396
HP:0001347	Hyperreflexia	118813	ZFYVE27	OMIM:610244
HP:0001347	Hyperreflexia	5660	PSAP	ORPHA:206436
HP:0001347	Hyperreflexia	6712	SPTBN2	OMIM:600224
HP:0001347	Hyperreflexia	5297	PI4KA	OMIM:619621
HP:0001347	Hyperreflexia	833	CARS1	OMIM:618891
HP:0001347	Hyperreflexia	8398	PLA2G6	OMIM:612953
HP:0001347	Hyperreflexia	23111	SPART	OMIM:275900
HP:0001347	Hyperreflexia	57704	GBA2	OMIM:614409
HP:0001347	Hyperreflexia	113278	SLC52A3	OMIM:211530
HP:0001347	Hyperreflexia	11160	ERLIN2	OMIM:611225
HP:0001347	Hyperreflexia	55129	ANO10	OMIM:613728
HP:0001347	Hyperreflexia	51324	SPG21	OMIM:248900
HP:0001347	Hyperreflexia	4897	NRCAM	OMIM:619833
HP:0001347	Hyperreflexia	9179	AP4M1	OMIM:612936
HP:0006821	Frontal polymicrogyria	54806	AHI1	OMIM:608629
HP:0006821	Frontal polymicrogyria	1778	DYNC1H1	OMIM:614563
HP:0006821	Frontal polymicrogyria	23229	ARHGEF9	OMIM:300607
HP:0006821	Frontal polymicrogyria	10381	TUBB3	OMIM:614039
HP:0006821	Frontal polymicrogyria	9289	ADGRG1	OMIM:606854
HP:0006821	Frontal polymicrogyria	8496	PPFIBP1	OMIM:620024
HP:0001268	Mental deterioration	5274	SERPINI1	OMIM:604218
HP:0001268	Mental deterioration	5621	PRNP	ORPHA:282166
HP:0001268	Mental deterioration	5621	PRNP	OMIM:600072
HP:0001268	Mental deterioration	5621	PRNP	OMIM:603218
HP:0001268	Mental deterioration	5621	PRNP	ORPHA:356
HP:0001268	Mental deterioration	5621	PRNP	ORPHA:157941
HP:0001268	Mental deterioration	5621	PRNP	OMIM:123400
HP:0001268	Mental deterioration	5621	PRNP	OMIM:606688
HP:0001268	Mental deterioration	5621	PRNP	OMIM:137440
HP:0001268	Mental deterioration	4287	ATXN3	OMIM:109150
HP:0001268	Mental deterioration	8029	CUBN	OMIM:261100
HP:0001268	Mental deterioration	9782	MATR3	OMIM:606070
HP:0001268	Mental deterioration	9782	MATR3	ORPHA:600
HP:0001268	Mental deterioration	4693	NDP	OMIM:310600
HP:0001268	Mental deterioration	51816	ADA2	ORPHA:820
HP:0001268	Mental deterioration	5521	PPP2R2B	OMIM:604326
HP:0001268	Mental deterioration	5521	PPP2R2B	ORPHA:98762
HP:0001268	Mental deterioration	6311	ATXN2	OMIM:183090
HP:0001268	Mental deterioration	6311	ATXN2	ORPHA:98756
HP:0001268	Mental deterioration	6311	ATXN2	OMIM:168600
HP:0001268	Mental deterioration	5155	PDGFB	OMIM:615483
HP:0001268	Mental deterioration	8722	CTSF	OMIM:615362
HP:0001268	Mental deterioration	3664	IRF6	OMIM:119500
HP:0001268	Mental deterioration	100996717	NOTCH2NLC	ORPHA:2289
HP:0001268	Mental deterioration	100996717	NOTCH2NLC	OMIM:603472
HP:0001268	Mental deterioration	54476	RNF216	OMIM:212840
HP:0001268	Mental deterioration	54476	RNF216	ORPHA:1173
HP:0001268	Mental deterioration	1476	CSTB	OMIM:254800
HP:0001268	Mental deterioration	1476	CSTB	ORPHA:308
HP:0001268	Mental deterioration	5428	POLG	ORPHA:298
HP:0001268	Mental deterioration	5428	POLG	OMIM:203700
HP:0001268	Mental deterioration	5428	POLG	OMIM:607459
HP:0001268	Mental deterioration	5428	POLG	OMIM:603041
HP:0001268	Mental deterioration	1890	TYMP	ORPHA:298
HP:0001268	Mental deterioration	1890	TYMP	OMIM:603041
HP:0001268	Mental deterioration	3980	LIG3	ORPHA:298
HP:0001268	Mental deterioration	51324	SPG21	OMIM:248900
HP:0001268	Mental deterioration	51324	SPG21	ORPHA:101001
HP:0001268	Mental deterioration	4512	MT-CO1	OMIM:540000
HP:0001268	Mental deterioration	4512	MT-CO1	ORPHA:550
HP:0001268	Mental deterioration	4513	MT-CO2	OMIM:540000
HP:0001268	Mental deterioration	4513	MT-CO2	ORPHA:550
HP:0001268	Mental deterioration	4514	MT-CO3	OMIM:540000
HP:0001268	Mental deterioration	4514	MT-CO3	ORPHA:550
HP:0001268	Mental deterioration	4519	MT-CYB	OMIM:540000
HP:0001268	Mental deterioration	4511	MT-TC	OMIM:540000
HP:0001268	Mental deterioration	4574	MT-TS1	OMIM:540000
HP:0001268	Mental deterioration	4574	MT-TS1	ORPHA:550
HP:0001268	Mental deterioration	4575	MT-TS2	OMIM:540000
HP:0001268	Mental deterioration	4575	MT-TS2	ORPHA:550
HP:0001268	Mental deterioration	4558	MT-TF	OMIM:540000
HP:0001268	Mental deterioration	4558	MT-TF	ORPHA:550
HP:0001268	Mental deterioration	4541	MT-ND6	OMIM:540000
HP:0001268	Mental deterioration	4541	MT-ND6	ORPHA:550
HP:0001268	Mental deterioration	4567	MT-TL1	OMIM:540000
HP:0001268	Mental deterioration	4567	MT-TL1	ORPHA:550
HP:0001268	Mental deterioration	4540	MT-ND5	OMIM:540000
HP:0001268	Mental deterioration	4540	MT-ND5	ORPHA:550
HP:0001268	Mental deterioration	4566	MT-TK	OMIM:540000
HP:0001268	Mental deterioration	4535	MT-ND1	OMIM:540000
HP:0001268	Mental deterioration	4535	MT-ND1	ORPHA:550
HP:0001268	Mental deterioration	4572	MT-TQ	OMIM:540000
HP:0001268	Mental deterioration	4572	MT-TQ	ORPHA:550
HP:0001268	Mental deterioration	4577	MT-TV	OMIM:540000
HP:0001268	Mental deterioration	4578	MT-TW	OMIM:540000
HP:0001268	Mental deterioration	4578	MT-TW	ORPHA:550
HP:0001268	Mental deterioration	348	APOE	OMIM:607822
HP:0001268	Mental deterioration	348	APOE	OMIM:606889
HP:0001268	Mental deterioration	348	APOE	OMIM:104310
HP:0001268	Mental deterioration	51360	MBTPS2	ORPHA:2273
HP:0001268	Mental deterioration	3064	HTT	ORPHA:248111
HP:0001268	Mental deterioration	3064	HTT	OMIM:143100
HP:0001268	Mental deterioration	1716	DGUOK	ORPHA:329314
HP:0001268	Mental deterioration	1716	DGUOK	OMIM:617070
HP:0001268	Mental deterioration	2332	FMR1	ORPHA:93256
HP:0001268	Mental deterioration	2332	FMR1	OMIM:300623
HP:0001268	Mental deterioration	7276	TTR	OMIM:105210
HP:0001268	Mental deterioration	4508	MT-ATP6	OMIM:551500
HP:0001268	Mental deterioration	4508	MT-ATP6	ORPHA:644
HP:0001268	Mental deterioration	1130	LYST	ORPHA:167
HP:0001268	Mental deterioration	23400	ATP13A2	ORPHA:513436
HP:0001268	Mental deterioration	23400	ATP13A2	ORPHA:306674
HP:0001268	Mental deterioration	23400	ATP13A2	OMIM:617225
HP:0001268	Mental deterioration	23400	ATP13A2	OMIM:606693
HP:0001268	Mental deterioration	215	ABCD1	OMIM:300100
HP:0001268	Mental deterioration	10908	PNPLA6	ORPHA:1173
HP:0001268	Mental deterioration	83636	C19orf12	OMIM:614298
HP:0001268	Mental deterioration	80208	SPG11	ORPHA:2822
HP:0001268	Mental deterioration	54840	APTX	OMIM:208920
HP:0001268	Mental deterioration	57338	JPH3	ORPHA:98934
HP:0001268	Mental deterioration	57338	JPH3	OMIM:606438
HP:0001268	Mental deterioration	1471	CST3	OMIM:105150
HP:0001268	Mental deterioration	5654	HTRA1	ORPHA:199354
HP:0001268	Mental deterioration	5654	HTRA1	OMIM:600142
HP:0001268	Mental deterioration	5654	HTRA1	OMIM:616779
HP:0001268	Mental deterioration	493856	CISD2	ORPHA:3463
HP:0001268	Mental deterioration	7466	WFS1	ORPHA:3463
HP:0001268	Mental deterioration	7466	WFS1	ORPHA:411590
HP:0001268	Mental deterioration	80025	PANK2	OMIM:234200
HP:0001268	Mental deterioration	80025	PANK2	OMIM:607236
HP:0001268	Mental deterioration	1822	ATN1	ORPHA:101
HP:0001268	Mental deterioration	1822	ATN1	OMIM:125370
HP:0001268	Mental deterioration	4311	MME	ORPHA:497764
HP:0001268	Mental deterioration	4311	MME	OMIM:617017
HP:0001268	Mental deterioration	540	ATP7B	OMIM:277900
HP:0001268	Mental deterioration	11152	WDR45	OMIM:300894
HP:0001268	Mental deterioration	11152	WDR45	ORPHA:329284
HP:0001268	Mental deterioration	1282	COL4A1	OMIM:618564
HP:0001268	Mental deterioration	6683	SPAST	OMIM:182601
HP:0001268	Mental deterioration	57704	GBA2	OMIM:614409
HP:0001268	Mental deterioration	57704	GBA2	ORPHA:320391
HP:0001268	Mental deterioration	284111	SLC13A5	ORPHA:1946
HP:0001268	Mental deterioration	79641	ROGDI	ORPHA:1946
HP:0001268	Mental deterioration	79641	ROGDI	OMIM:226750
HP:0001268	Mental deterioration	4556	MT-TE	ORPHA:2596
HP:0001268	Mental deterioration	84188	FAR1	ORPHA:447753
HP:0001268	Mental deterioration	56652	TWNK	OMIM:607459
HP:0001268	Mental deterioration	56652	TWNK	OMIM:609286
HP:0001268	Mental deterioration	80331	DNAJC5	OMIM:162350
HP:0001268	Mental deterioration	25793	FBXO7	ORPHA:171695
HP:0001268	Mental deterioration	16	AARS1	OMIM:619661
HP:0001268	Mental deterioration	51142	CHCHD2	OMIM:616710
HP:0001268	Mental deterioration	2639	GCDH	ORPHA:25
HP:0001268	Mental deterioration	4538	MT-ND4	ORPHA:550
HP:0001268	Mental deterioration	4564	MT-TH	ORPHA:550
HP:0001268	Mental deterioration	7080	NKX2-1	OMIM:118700
HP:0001268	Mental deterioration	1356	CP	OMIM:604290
HP:0001268	Mental deterioration	2066	ERBB4	OMIM:615515
HP:0001268	Mental deterioration	4353	MPO	OMIM:104300
HP:0001268	Mental deterioration	4846	NOS3	OMIM:104300
HP:0001268	Mental deterioration	3077	HFE	OMIM:104300
HP:0001268	Mental deterioration	5328	PLAU	OMIM:104300
HP:0001268	Mental deterioration	144165	PRICKLE1	ORPHA:308
HP:0001268	Mental deterioration	950	SCARB2	ORPHA:308
HP:0001268	Mental deterioration	25814	ATXN10	OMIM:603516
HP:0001268	Mental deterioration	57505	AARS2	OMIM:615889
HP:0001268	Mental deterioration	54822	TRPM7	OMIM:105500
HP:0001268	Mental deterioration	427	ASAH1	OMIM:159950
HP:0001268	Mental deterioration	10059	DNM1L	ORPHA:98673
HP:0001268	Mental deterioration	4976	OPA1	ORPHA:98673
HP:0001268	Mental deterioration	4694	NDUFA1	OMIM:301020
HP:0001268	Mental deterioration	84196	USP48	ORPHA:96253
HP:0001268	Mental deterioration	7157	TP53	ORPHA:96253
HP:0001268	Mental deterioration	9101	USP8	ORPHA:96253
HP:0001268	Mental deterioration	64072	CDH23	ORPHA:96253
HP:0001268	Mental deterioration	2908	NR3C1	ORPHA:96253
HP:0001268	Mental deterioration	673	BRAF	ORPHA:96253
HP:0001268	Mental deterioration	546	ATRX	ORPHA:96253
HP:0001268	Mental deterioration	2072	ERCC4	OMIM:278760
HP:0001268	Mental deterioration	23317	DNAJC13	ORPHA:411602
HP:0001268	Mental deterioration	1981	EIF4G1	ORPHA:411602
HP:0001268	Mental deterioration	55737	VPS35	ORPHA:411602
HP:0001268	Mental deterioration	26058	GIGYF2	ORPHA:411602
HP:0001268	Mental deterioration	311	ANXA11	OMIM:617839
HP:0001268	Mental deterioration	116442	RAB39B	OMIM:311510
HP:0001268	Mental deterioration	1737	DLAT	ORPHA:79244
HP:0001268	Mental deterioration	549	AUH	OMIM:250950
HP:0001268	Mental deterioration	4864	NPC1	OMIM:257220
HP:0001268	Mental deterioration	3119	HLA-DQB1	OMIM:123400
HP:0001268	Mental deterioration	2632	GBE1	ORPHA:206583
HP:0001268	Mental deterioration	56978	PRDM8	OMIM:616640
HP:0001268	Mental deterioration	10382	TUBB4A	ORPHA:98805
HP:0001268	Mental deterioration	56910	STARD7	OMIM:607876
HP:0001268	Mental deterioration	23230	VPS13A	OMIM:200150
HP:0001268	Mental deterioration	9213	XPR1	OMIM:616413
HP:0001268	Mental deterioration	219285	SAMD9L	OMIM:619806
HP:0001268	Mental deterioration	1786	DNMT1	OMIM:614116
HP:0001268	Mental deterioration	1786	DNMT1	OMIM:604121
HP:0001268	Mental deterioration	6620	SNCB	OMIM:127750
HP:0001268	Mental deterioration	10846	PDE10A	ORPHA:494541
HP:0001268	Mental deterioration	10577	NPC2	OMIM:607625
HP:0001268	Mental deterioration	25974	MMACHC	ORPHA:79282
HP:0001268	Mental deterioration	25974	MMACHC	OMIM:277400
HP:0001268	Mental deterioration	1678	TIMM8A	ORPHA:52368
HP:0001268	Mental deterioration	126129	CPT1C	ORPHA:444099
HP:0001268	Mental deterioration	80217	CFAP43	OMIM:236690
HP:0001268	Mental deterioration	2747	GLUD2	OMIM:168600
HP:0001268	Mental deterioration	126	ADH1C	OMIM:168600
HP:0001268	Mental deterioration	4929	NR4A2	OMIM:168600
HP:0001268	Mental deterioration	4576	MT-TT	OMIM:168600
HP:0001268	Mental deterioration	9627	SNCAIP	OMIM:168600
HP:0001268	Mental deterioration	6315	ATXN8OS	OMIM:168600
HP:0001268	Mental deterioration	5052	PRDX1	OMIM:277400
HP:0001268	Mental deterioration	2760	GM2A	OMIM:272750
HP:0001268	Mental deterioration	1436	CSF1R	OMIM:221820
HP:0001268	Mental deterioration	2512	FTL	ORPHA:157846
HP:0001268	Mental deterioration	54832	VPS13C	ORPHA:2828
HP:0001268	Mental deterioration	11315	PARK7	ORPHA:2828
HP:0001268	Mental deterioration	7345	UCHL1	ORPHA:2828
HP:0001268	Mental deterioration	27429	HTRA2	ORPHA:2828
HP:0001268	Mental deterioration	120892	LRRK2	ORPHA:2828
HP:0001268	Mental deterioration	9829	DNAJC6	ORPHA:2828
HP:0001268	Mental deterioration	6622	SNCA	ORPHA:2828
HP:0001268	Mental deterioration	5420	PODXL	ORPHA:2828
HP:0001268	Mental deterioration	65018	PINK1	ORPHA:2828
HP:0001268	Mental deterioration	5071	PRKN	ORPHA:2828
HP:0001268	Mental deterioration	7305	TYROBP	ORPHA:2770
HP:0001268	Mental deterioration	7305	TYROBP	OMIM:221770
HP:0001268	Mental deterioration	6908	TBP	OMIM:607136
HP:0001268	Mental deterioration	6323	SCN1A	OMIM:607208
HP:0001268	Mental deterioration	6323	SCN1A	ORPHA:2382
HP:0001268	Mental deterioration	6515	SLC2A3	ORPHA:399
HP:0001268	Mental deterioration	51728	POLR3K	OMIM:619310
HP:0001268	Mental deterioration	23446	SLC44A1	OMIM:618868
HP:0001268	Mental deterioration	2778	GNAS	OMIM:219080
HP:0001268	Mental deterioration	80347	COASY	OMIM:615643
HP:0001268	Mental deterioration	50940	PDE11A	OMIM:610475
HP:0001268	Mental deterioration	23600	AMACR	ORPHA:79095
HP:0001268	Mental deterioration	3897	L1CAM	ORPHA:306617
HP:0001268	Mental deterioration	6314	ATXN7	OMIM:164500
HP:0001268	Mental deterioration	6314	ATXN7	ORPHA:94147
HP:0001268	Mental deterioration	2592	GALT	ORPHA:79239
HP:0001268	Mental deterioration	1340	COX6B1	OMIM:619051
HP:0001268	Mental deterioration	727676	SNORD118	OMIM:614561
HP:0001268	Mental deterioration	727676	SNORD118	ORPHA:542310
HP:0001268	Mental deterioration	7343	UBTF	OMIM:617672
HP:0001268	Mental deterioration	3746	KCNC1	OMIM:616187
HP:0001268	Mental deterioration	3423	IDS	ORPHA:217085
HP:0001268	Mental deterioration	3423	IDS	ORPHA:217093
HP:0001268	Mental deterioration	54834	GDAP2	OMIM:618369
HP:0001268	Mental deterioration	55157	DARS2	ORPHA:137898
HP:0001268	Mental deterioration	6575	SLC20A2	OMIM:213600
HP:0001268	Mental deterioration	5573	PRKAR1A	OMIM:610489
HP:0001268	Mental deterioration	1509	CTSD	OMIM:610127
HP:0001268	Mental deterioration	9570	GOSR2	OMIM:620166
HP:0001268	Mental deterioration	10157	AASS	ORPHA:3124
HP:0001268	Mental deterioration	55750	AGK	OMIM:212350
HP:0001268	Mental deterioration	5582	PRKCG	OMIM:605361
HP:0001268	Mental deterioration	10273	STUB1	OMIM:618093
HP:0001268	Mental deterioration	60	ACTB	ORPHA:79107
HP:0001268	Mental deterioration	7274	TTPA	ORPHA:96
HP:0001268	Mental deterioration	1759	DNM1	ORPHA:2382
HP:0001268	Mental deterioration	1759	DNM1	ORPHA:442835
HP:0001268	Mental deterioration	2562	GABRB3	ORPHA:2382
HP:0001268	Mental deterioration	5602	MAPK10	ORPHA:2382
HP:0001268	Mental deterioration	23316	CUX2	ORPHA:2382
HP:0001268	Mental deterioration	1106	CHD2	ORPHA:2382
HP:0001268	Mental deterioration	79152	FA2H	ORPHA:329308
HP:0001268	Mental deterioration	79152	FA2H	OMIM:612319
HP:0001268	Mental deterioration	79152	FA2H	ORPHA:171629
HP:0001268	Mental deterioration	7098	TLR3	OMIM:613002
HP:0001268	Mental deterioration	51271	UBAP1	OMIM:618418
HP:0001268	Mental deterioration	3737	KCNA2	ORPHA:442835
HP:0001268	Mental deterioration	8120	AP3B2	ORPHA:442835
HP:0001268	Mental deterioration	10991	SLC38A3	ORPHA:442835
HP:0001268	Mental deterioration	51343	FZR1	ORPHA:442835
HP:0001268	Mental deterioration	22906	TRAK1	ORPHA:442835
HP:0001268	Mental deterioration	2566	GABRG2	ORPHA:442835
HP:0001268	Mental deterioration	1917	EEF1A2	ORPHA:442835
HP:0001268	Mental deterioration	2561	GABRB2	ORPHA:442835
HP:0001268	Mental deterioration	8831	SYNGAP1	ORPHA:442835
HP:0001268	Mental deterioration	7532	YWHAG	ORPHA:442835
HP:0001268	Mental deterioration	79876	UBA5	ORPHA:442835
HP:0001268	Mental deterioration	6328	SCN3A	ORPHA:442835
HP:0001268	Mental deterioration	2558	GABRA5	ORPHA:442835
HP:0001268	Mental deterioration	781	CACNA2D1	ORPHA:442835
HP:0001268	Mental deterioration	2906	GRIN2D	ORPHA:442835
HP:0001268	Mental deterioration	116150	NUS1	ORPHA:442835
HP:0001268	Mental deterioration	10659	CELF2	ORPHA:442835
HP:0001268	Mental deterioration	774	CACNA1B	ORPHA:442835
HP:0001268	Mental deterioration	1213	CLTC	ORPHA:442835
HP:0001268	Mental deterioration	51741	WWOX	ORPHA:442835
HP:0001268	Mental deterioration	23334	SZT2	ORPHA:442835
HP:0001268	Mental deterioration	51412	ACTL6B	ORPHA:442835
HP:0001268	Mental deterioration	348980	HCN1	ORPHA:442835
HP:0001268	Mental deterioration	6506	SLC1A2	ORPHA:442835
HP:0001268	Mental deterioration	2258	FGF13	ORPHA:442835
HP:0001268	Mental deterioration	3745	KCNB1	ORPHA:442835
HP:0001268	Mental deterioration	25977	NECAP1	ORPHA:442835
HP:0001268	Mental deterioration	22866	CNKSR2	ORPHA:442835
HP:0001268	Mental deterioration	9568	GABBR2	ORPHA:442835
HP:0001268	Mental deterioration	2555	GABRA2	ORPHA:442835
HP:0001268	Mental deterioration	55152	DALRD3	ORPHA:442835
HP:0001268	Mental deterioration	26999	CYFIP2	ORPHA:442835
HP:0001268	Mental deterioration	4915	NTRK2	ORPHA:442835
HP:0001268	Mental deterioration	25973	PARS2	ORPHA:442835
HP:0001268	Mental deterioration	23097	CDK19	ORPHA:442835
HP:0001268	Mental deterioration	64801	ARV1	ORPHA:442835
HP:0001268	Mental deterioration	79947	DHDDS	ORPHA:442835
HP:0001268	Mental deterioration	2257	FGF12	ORPHA:442835
HP:0001268	Mental deterioration	5530	PPP3CA	ORPHA:442835
HP:0001268	Mental deterioration	9907	AP5Z1	OMIM:613647
HP:0001268	Mental deterioration	84138	SLC7A6OS	OMIM:619191
HP:0001268	Mental deterioration	8879	SGPL1	OMIM:617575
HP:0001268	Mental deterioration	58494	JAM2	OMIM:618824
HP:0001268	Mental deterioration	9927	MFN2	OMIM:609260
HP:0001268	Mental deterioration	80067	DCAF17	ORPHA:3464
HP:0001268	Mental deterioration	7507	XPA	OMIM:278700
HP:0001268	Mental deterioration	25915	NDUFAF3	ORPHA:70474
HP:0001268	Mental deterioration	4714	NDUFB8	ORPHA:70474
HP:0001268	Mental deterioration	4720	NDUFS2	ORPHA:70474
HP:0001268	Mental deterioration	9997	SCO2	ORPHA:70474
HP:0001268	Mental deterioration	6834	SURF1	ORPHA:70474
HP:0001268	Mental deterioration	57462	MYORG	OMIM:618317
HP:0001268	Mental deterioration	256471	MFSD8	OMIM:610951
HP:0001268	Mental deterioration	4683	NBN	ORPHA:647
HP:0001268	Mental deterioration	6609	SMPD1	OMIM:607616
HP:0001268	Mental deterioration	79587	CARS2	OMIM:616672
HP:0001268	Mental deterioration	4893	NRAS	OMIM:249400
HP:0001268	Mental deterioration	80169	CTC1	OMIM:612199
HP:0001268	Mental deterioration	10749	KIF1C	OMIM:611302
HP:0001268	Mental deterioration	339453	TMEM240	OMIM:607454
HP:0001268	Mental deterioration	3145	HMBS	ORPHA:79276
HP:0001268	Mental deterioration	2068	ERCC2	OMIM:278730
HP:0001268	Mental deterioration	4137	MAPT	OMIM:600274
HP:0001268	Mental deterioration	4137	MAPT	OMIM:172700
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:275864
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:100070
HP:0001268	Mental deterioration	5663	PSEN1	OMIM:600274
HP:0001268	Mental deterioration	5663	PSEN1	OMIM:172700
HP:0001268	Mental deterioration	5663	PSEN1	ORPHA:275864
HP:0001268	Mental deterioration	5663	PSEN1	ORPHA:100070
HP:0001268	Mental deterioration	8398	PLA2G6	ORPHA:199351
HP:0001268	Mental deterioration	8398	PLA2G6	OMIM:612953
HP:0001268	Mental deterioration	25978	CHMP2B	OMIM:600795
HP:0001268	Mental deterioration	25978	CHMP2B	ORPHA:275864
HP:0001268	Mental deterioration	25978	CHMP2B	ORPHA:100070
HP:0001268	Mental deterioration	29978	UBQLN2	OMIM:300857
HP:0001268	Mental deterioration	1540	CYLD	OMIM:619132
HP:0001268	Mental deterioration	7072	TIA1	OMIM:619133
HP:0001268	Mental deterioration	23435	TARDBP	OMIM:612069
HP:0001268	Mental deterioration	23435	TARDBP	ORPHA:275872
HP:0001268	Mental deterioration	400916	CHCHD10	OMIM:615911
HP:0001268	Mental deterioration	400916	CHCHD10	ORPHA:275872
HP:0001268	Mental deterioration	7277	TUBA4A	OMIM:616208
HP:0001268	Mental deterioration	2521	FUS	ORPHA:275872
HP:0001268	Mental deterioration	8878	SQSTM1	ORPHA:275872
HP:0001268	Mental deterioration	8878	SQSTM1	ORPHA:275864
HP:0001268	Mental deterioration	8878	SQSTM1	OMIM:616437
HP:0001268	Mental deterioration	29110	TBK1	ORPHA:275872
HP:0001268	Mental deterioration	29110	TBK1	OMIM:616439
HP:0001268	Mental deterioration	203228	C9orf72	OMIM:105550
HP:0001268	Mental deterioration	2896	GRN	OMIM:607485
HP:0001268	Mental deterioration	2896	GRN	ORPHA:275864
HP:0001268	Mental deterioration	2896	GRN	ORPHA:100070
HP:0001268	Mental deterioration	899	CCNF	OMIM:619141
HP:0001268	Mental deterioration	23503	ZFYVE26	ORPHA:100996
HP:0001268	Mental deterioration	3181	HNRNPA2B1	OMIM:615422
HP:0001268	Mental deterioration	3181	HNRNPA2B1	ORPHA:52430
HP:0001268	Mental deterioration	54664	TMEM106B	ORPHA:275864
HP:0001268	Mental deterioration	54664	TMEM106B	ORPHA:100070
HP:0001268	Mental deterioration	54209	TREM2	ORPHA:275864
HP:0001268	Mental deterioration	54209	TREM2	ORPHA:100070
HP:0001268	Mental deterioration	1639	DCTN1	OMIM:168605
HP:0001268	Mental deterioration	3178	HNRNPA1	ORPHA:52430
HP:0001268	Mental deterioration	4854	NOTCH3	ORPHA:136
HP:0001268	Mental deterioration	5660	PSAP	OMIM:249900
HP:0001268	Mental deterioration	55131	RBM28	ORPHA:157954
HP:0001268	Mental deterioration	55131	RBM28	OMIM:612079
HP:0001268	Mental deterioration	7084	TK2	ORPHA:254875
HP:0001268	Mental deterioration	5575	PRKAR1B	ORPHA:412066
HP:0001268	Mental deterioration	2581	GALC	OMIM:245200
HP:0001268	Mental deterioration	1203	CLN5	OMIM:256731
HP:0001268	Mental deterioration	6389	SDHA	ORPHA:3208
HP:0001268	Mental deterioration	6390	SDHB	ORPHA:3208
HP:0001268	Mental deterioration	6392	SDHD	ORPHA:3208
HP:0001268	Mental deterioration	644096	SDHAF1	ORPHA:3208
HP:0001268	Mental deterioration	4204	MECP2	OMIM:312750
HP:0001268	Mental deterioration	23732	FRRS1L	ORPHA:725
HP:0001268	Mental deterioration	2903	GRIN2A	ORPHA:725
HP:0001268	Mental deterioration	138050	HGSNAT	OMIM:252930
HP:0001268	Mental deterioration	2055	CLN8	ORPHA:1947
HP:0001268	Mental deterioration	5053	PAH	ORPHA:79254
HP:0001268	Mental deterioration	54982	CLN6	OMIM:601780
HP:0001268	Mental deterioration	25894	PLEKHG4	ORPHA:98765
HP:0001268	Mental deterioration	2074	ERCC6	OMIM:214150
HP:0001268	Mental deterioration	2074	ERCC6	ORPHA:90324
HP:0001268	Mental deterioration	3735	KARS1	OMIM:619196
HP:0001268	Mental deterioration	1497	CTNS	OMIM:219800
HP:0001268	Mental deterioration	26277	TINF2	OMIM:268130
HP:0001268	Mental deterioration	64849	SLC13A3	OMIM:618384
HP:0001268	Mental deterioration	3028	HSD17B10	OMIM:300438
HP:0001268	Mental deterioration	23516	SLC39A14	OMIM:617013
HP:0001268	Mental deterioration	1161	ERCC8	ORPHA:90324
HP:0001268	Mental deterioration	100151683	RNU4ATAC	OMIM:210710
HP:0001268	Mental deterioration	2643	GCH1	OMIM:233910
HP:0001268	Mental deterioration	773	CACNA1A	ORPHA:2131
HP:0001268	Mental deterioration	6507	SLC1A3	ORPHA:2131
HP:0001268	Mental deterioration	477	ATP1A2	ORPHA:2131
HP:0001268	Mental deterioration	478	ATP1A3	ORPHA:2131
HP:0001268	Mental deterioration	123263	MTFMT	OMIM:614947
HP:0001268	Mental deterioration	4001	LMNB1	OMIM:169500
HP:0001268	Mental deterioration	2629	GBA1	OMIM:608013
HP:0001268	Mental deterioration	2629	GBA1	OMIM:230900
HP:0001268	Mental deterioration	2629	GBA1	OMIM:231000
HP:0001268	Mental deterioration	10128	LRPPRC	ORPHA:70472
HP:0001268	Mental deterioration	26275	HIBCH	ORPHA:88639
HP:0001268	Mental deterioration	8867	SYNJ1	OMIM:617389
HP:0001268	Mental deterioration	5873	RAB27A	OMIM:607624
HP:0001268	Mental deterioration	5805	PTS	OMIM:261640
HP:0001268	Mental deterioration	1537	CYC1	OMIM:615453
HP:0001268	Mental deterioration	7415	VCP	ORPHA:329478
HP:0001268	Mental deterioration	125988	MICOS13	OMIM:618329
HP:0001268	Mental deterioration	5832	ALDH18A1	ORPHA:447757
HP:0001268	Mental deterioration	57192	MCOLN1	OMIM:252650
HP:0001268	Mental deterioration	3172	HNF4A	ORPHA:263455
HP:0001268	Mental deterioration	10715	CERS1	OMIM:616230
HP:0001268	Mental deterioration	11277	TREX1	ORPHA:247691
HP:0001268	Mental deterioration	5159	PDGFRB	OMIM:616592
HP:0001268	Mental deterioration	5860	QDPR	OMIM:261630
HP:0001268	Mental deterioration	51300	TIMMDC1	OMIM:618251
HP:0001268	Mental deterioration	4700	NDUFA6	OMIM:618253
HP:0001268	Mental deterioration	50484	RRM2B	OMIM:612075
HP:0001268	Mental deterioration	7957	EPM2A	OMIM:254780
HP:0001268	Mental deterioration	378884	NHLRC1	OMIM:254780
HP:0001268	Mental deterioration	9445	ITM2B	OMIM:176500
HP:0001268	Mental deterioration	3425	IDUA	OMIM:607014
HP:0001268	Mental deterioration	4669	NAGLU	OMIM:252920
HP:0001268	Mental deterioration	220296	HEPACAM	OMIM:613925
HP:0001268	Mental deterioration	3073	HEXA	OMIM:272800
HP:0001268	Mental deterioration	22796	COG2	ORPHA:435934
HP:0001268	Mental deterioration	5354	PLP1	OMIM:312080
HP:0001268	Mental deterioration	4297	KMT2A	ORPHA:319182
HP:0001268	Mental deterioration	23545	ATP6V0A2	ORPHA:357074
HP:0001268	Mental deterioration	523	ATP6V1A	ORPHA:357074
HP:0001268	Mental deterioration	529	ATP6V1E1	ORPHA:357074
HP:0001268	Mental deterioration	5538	PPT1	OMIM:256730
HP:0001268	Mental deterioration	246243	RNASEH1	ORPHA:329336
HP:0001268	Mental deterioration	1201	CLN3	OMIM:204200
HP:0001268	Mental deterioration	6334	SCN8A	ORPHA:306
HP:0001268	Mental deterioration	6326	SCN2A	ORPHA:306
HP:0001268	Mental deterioration	112476	PRRT2	ORPHA:306
HP:0001268	Mental deterioration	3785	KCNQ2	ORPHA:306
HP:0001268	Mental deterioration	3786	KCNQ3	ORPHA:306
HP:0001268	Mental deterioration	2584	GALK1	ORPHA:79237
HP:0001268	Mental deterioration	26047	CNTNAP2	OMIM:610042
HP:0001268	Mental deterioration	26047	CNTNAP2	ORPHA:163681
HP:0001268	Mental deterioration	1387	CREBBP	ORPHA:353277
HP:0001268	Mental deterioration	1387	CREBBP	ORPHA:353281
HP:0001268	Mental deterioration	2033	EP300	ORPHA:353284
HP:0001268	Mental deterioration	1312	COMT	OMIM:181500
HP:0001268	Mental deterioration	23780	APOL2	OMIM:181500
HP:0001268	Mental deterioration	267012	DAOA	OMIM:181500
HP:0001268	Mental deterioration	3356	HTR2A	OMIM:181500
HP:0001268	Mental deterioration	6854	SYN2	OMIM:181500
HP:0001268	Mental deterioration	1814	DRD3	OMIM:181500
HP:0001268	Mental deterioration	4524	MTHFR	OMIM:181500
HP:0001268	Mental deterioration	27184	DISC2	OMIM:181500
HP:0001268	Mental deterioration	65078	RTN4R	OMIM:181500
HP:0001268	Mental deterioration	80832	APOL4	OMIM:181500
HP:0001268	Mental deterioration	1116	CHI3L1	OMIM:181500
HP:0001268	Mental deterioration	154881	KCTD7	ORPHA:263516
HP:0001268	Mental deterioration	1593	CYP27A1	ORPHA:909
HP:0001268	Mental deterioration	410	ARSA	ORPHA:309271
HP:0001268	Mental deterioration	410	ARSA	ORPHA:309263
HP:0001268	Mental deterioration	26580	BSCL2	ORPHA:363400
HP:0001268	Mental deterioration	2720	GLB1	OMIM:230600
HP:0001268	Mental deterioration	23203	PMPCA	ORPHA:1170
HP:0001268	Mental deterioration	3074	HEXB	OMIM:268800
HP:0001268	Mental deterioration	285362	SUMF1	ORPHA:585
HP:0001268	Mental deterioration	285362	SUMF1	OMIM:272200
HP:0001268	Mental deterioration	5664	PSEN2	ORPHA:1020
HP:0001268	Mental deterioration	10452	TOMM40	ORPHA:1020
HP:0001268	Mental deterioration	351	APP	ORPHA:1020
HP:0001268	Mental deterioration	10347	ABCA7	ORPHA:1020
HP:0001268	Mental deterioration	6653	SORL1	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	25792	CIZ1	ORPHA:420492
HP:0002120	Cerebral cortical atrophy	4702	NDUFA8	OMIM:619272
HP:0002120	Cerebral cortical atrophy	773	CACNA1A	OMIM:183086
HP:0002120	Cerebral cortical atrophy	1183	CLCN4	OMIM:300114
HP:0002120	Cerebral cortical atrophy	1183	CLCN4	ORPHA:485350
HP:0002120	Cerebral cortical atrophy	5393	EXOSC9	OMIM:618065
HP:0002120	Cerebral cortical atrophy	5393	EXOSC9	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	23556	PIGN	ORPHA:2059
HP:0002120	Cerebral cortical atrophy	400916	CHCHD10	OMIM:615911
HP:0002120	Cerebral cortical atrophy	673	BRAF	OMIM:115150
HP:0002120	Cerebral cortical atrophy	673	BRAF	ORPHA:1340
HP:0002120	Cerebral cortical atrophy	54820	NDE1	ORPHA:2177
HP:0002120	Cerebral cortical atrophy	7360	UGP2	OMIM:618744
HP:0002120	Cerebral cortical atrophy	145173	B3GLCT	ORPHA:709
HP:0002120	Cerebral cortical atrophy	5457	POU4F1	ORPHA:314647
HP:0002120	Cerebral cortical atrophy	23261	CAMTA1	ORPHA:314647
HP:0002120	Cerebral cortical atrophy	23261	CAMTA1	OMIM:614756
HP:0002120	Cerebral cortical atrophy	10667	FARS2	OMIM:614946
HP:0002120	Cerebral cortical atrophy	8496	PPFIBP1	OMIM:620024
HP:0002120	Cerebral cortical atrophy	23126	POGZ	ORPHA:468678
HP:0002120	Cerebral cortical atrophy	5521	PPP2R2B	OMIM:604326
HP:0002120	Cerebral cortical atrophy	6687	SPG7	ORPHA:99013
HP:0002120	Cerebral cortical atrophy	6687	SPG7	OMIM:607259
HP:0002120	Cerebral cortical atrophy	4552	MTRR	OMIM:236270
HP:0002120	Cerebral cortical atrophy	54209	TREM2	OMIM:618193
HP:0002120	Cerebral cortical atrophy	54209	TREM2	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	54209	TREM2	ORPHA:2770
HP:0002120	Cerebral cortical atrophy	4125	MAN2B1	ORPHA:309282
HP:0002120	Cerebral cortical atrophy	4125	MAN2B1	ORPHA:309288
HP:0002120	Cerebral cortical atrophy	4125	MAN2B1	OMIM:248500
HP:0002120	Cerebral cortical atrophy	51112	TRAPPC12	ORPHA:500144
HP:0002120	Cerebral cortical atrophy	51112	TRAPPC12	OMIM:617669
HP:0002120	Cerebral cortical atrophy	54968	TMEM70	ORPHA:1194
HP:0002120	Cerebral cortical atrophy	3020	H3-3A	OMIM:619720
HP:0002120	Cerebral cortical atrophy	8722	CTSF	OMIM:615362
HP:0002120	Cerebral cortical atrophy	387787	LIPT2	OMIM:617668
HP:0002120	Cerebral cortical atrophy	84520	GON7	OMIM:619603
HP:0002120	Cerebral cortical atrophy	23431	AP4E1	OMIM:613744
HP:0002120	Cerebral cortical atrophy	23431	AP4E1	ORPHA:280763
HP:0002120	Cerebral cortical atrophy	57582	KCNT1	OMIM:614959
HP:0002120	Cerebral cortical atrophy	10978	CLP1	OMIM:615803
HP:0002120	Cerebral cortical atrophy	79158	GNPTAB	OMIM:252500
HP:0002120	Cerebral cortical atrophy	271	AMPD2	OMIM:615809
HP:0002120	Cerebral cortical atrophy	5189	PEX1	OMIM:214100
HP:0002120	Cerebral cortical atrophy	55650	PIGV	OMIM:239300
HP:0002120	Cerebral cortical atrophy	2192	FBLN1	ORPHA:404451
HP:0002120	Cerebral cortical atrophy	348	APOE	OMIM:607822
HP:0002120	Cerebral cortical atrophy	5663	PSEN1	OMIM:607822
HP:0002120	Cerebral cortical atrophy	5663	PSEN1	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	51360	MBTPS2	ORPHA:2273
HP:0002120	Cerebral cortical atrophy	3074	HEXB	ORPHA:309155
HP:0002120	Cerebral cortical atrophy	10134	BCAP31	ORPHA:369939
HP:0002120	Cerebral cortical atrophy	5832	ALDH18A1	OMIM:616586
HP:0002120	Cerebral cortical atrophy	5832	ALDH18A1	ORPHA:447760
HP:0002120	Cerebral cortical atrophy	7343	UBTF	OMIM:617672
HP:0002120	Cerebral cortical atrophy	91869	RFT1	ORPHA:244310
HP:0002120	Cerebral cortical atrophy	9326	ZNHIT3	ORPHA:2836
HP:0002120	Cerebral cortical atrophy	547	KIF1A	ORPHA:2836
HP:0002120	Cerebral cortical atrophy	2260	FGFR1	ORPHA:2396
HP:0002120	Cerebral cortical atrophy	3845	KRAS	ORPHA:2396
HP:0002120	Cerebral cortical atrophy	3845	KRAS	ORPHA:1340
HP:0002120	Cerebral cortical atrophy	2018	EMX2	OMIM:269160
HP:0002120	Cerebral cortical atrophy	6496	SIX3	OMIM:269160
HP:0002120	Cerebral cortical atrophy	6469	SHH	OMIM:269160
HP:0002120	Cerebral cortical atrophy	546	ATRX	ORPHA:847
HP:0002120	Cerebral cortical atrophy	5191	PEX7	OMIM:215100
HP:0002120	Cerebral cortical atrophy	83480	PUS3	ORPHA:488627
HP:0002120	Cerebral cortical atrophy	2332	FMR1	ORPHA:93256
HP:0002120	Cerebral cortical atrophy	2332	FMR1	ORPHA:908
HP:0002120	Cerebral cortical atrophy	23400	ATP13A2	ORPHA:513436
HP:0002120	Cerebral cortical atrophy	23400	ATP13A2	ORPHA:306674
HP:0002120	Cerebral cortical atrophy	23400	ATP13A2	OMIM:617225
HP:0002120	Cerebral cortical atrophy	652	BMP4	OMIM:607932
HP:0002120	Cerebral cortical atrophy	57231	SNX14	OMIM:616354
HP:0002120	Cerebral cortical atrophy	132158	GLYCTK	OMIM:220120
HP:0002120	Cerebral cortical atrophy	10347	ABCA7	OMIM:608907
HP:0002120	Cerebral cortical atrophy	10347	ABCA7	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	246243	RNASEH1	OMIM:616479
HP:0002120	Cerebral cortical atrophy	51761	ATP8A2	OMIM:615268
HP:0002120	Cerebral cortical atrophy	4582	MUC1	OMIM:174000
HP:0002120	Cerebral cortical atrophy	9487	PIGL	ORPHA:3474
HP:0002120	Cerebral cortical atrophy	57338	JPH3	ORPHA:98934
HP:0002120	Cerebral cortical atrophy	57338	JPH3	OMIM:606438
HP:0002120	Cerebral cortical atrophy	23265	EXOC7	OMIM:619072
HP:0002120	Cerebral cortical atrophy	699	BUB1	OMIM:620183
HP:0002120	Cerebral cortical atrophy	1798	DPAGT1	ORPHA:86309
HP:0002120	Cerebral cortical atrophy	3028	HSD17B10	OMIM:300438
HP:0002120	Cerebral cortical atrophy	55699	IARS2	OMIM:616007
HP:0002120	Cerebral cortical atrophy	54902	TTC19	OMIM:615157
HP:0002120	Cerebral cortical atrophy	6804	STX1A	ORPHA:904
HP:0002120	Cerebral cortical atrophy	7461	CLIP2	ORPHA:904
HP:0002120	Cerebral cortical atrophy	84277	DNAJC30	ORPHA:904
HP:0002120	Cerebral cortical atrophy	8468	FKBP6	ORPHA:904
HP:0002120	Cerebral cortical atrophy	5982	RFC2	ORPHA:904
HP:0002120	Cerebral cortical atrophy	2969	GTF2I	ORPHA:904
HP:0002120	Cerebral cortical atrophy	3984	LIMK1	ORPHA:904
HP:0002120	Cerebral cortical atrophy	9569	GTF2IRD1	ORPHA:904
HP:0002120	Cerebral cortical atrophy	155382	VPS37D	ORPHA:904
HP:0002120	Cerebral cortical atrophy	155368	METTL27	ORPHA:904
HP:0002120	Cerebral cortical atrophy	114049	BUD23	ORPHA:904
HP:0002120	Cerebral cortical atrophy	7458	EIF4H	ORPHA:904
HP:0002120	Cerebral cortical atrophy	84163	GTF2IRD2	ORPHA:904
HP:0002120	Cerebral cortical atrophy	9275	BCL7B	ORPHA:904
HP:0002120	Cerebral cortical atrophy	26608	TBL2	ORPHA:904
HP:0002120	Cerebral cortical atrophy	653361	NCF1	ORPHA:904
HP:0002120	Cerebral cortical atrophy	135886	TMEM270	ORPHA:904
HP:0002120	Cerebral cortical atrophy	51085	MLXIPL	ORPHA:904
HP:0002120	Cerebral cortical atrophy	9031	BAZ1B	ORPHA:904
HP:0002120	Cerebral cortical atrophy	2006	ELN	ORPHA:904
HP:0002120	Cerebral cortical atrophy	11340	EXOSC8	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	11340	EXOSC8	OMIM:616081
HP:0002120	Cerebral cortical atrophy	23287	AGTPBP1	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	51010	EXOSC3	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	7443	VRK1	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	7443	VRK1	OMIM:607596
HP:0002120	Cerebral cortical atrophy	91137	SLC25A46	ORPHA:2254
HP:0002120	Cerebral cortical atrophy	4191	MDH2	OMIM:617339
HP:0002120	Cerebral cortical atrophy	5590	PRKCZ	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	2563	GABRD	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	23013	SPEN	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	8510	MMP23B	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	7798	LUZP1	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	6497	SKI	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	10630	PDPN	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	3339	HSPG2	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	10277	UBE4B	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	8514	KCNAB2	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	473	RERE	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	63976	PRDM16	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	54897	CASZ1	ORPHA:1606
HP:0002120	Cerebral cortical atrophy	493856	CISD2	ORPHA:3463
HP:0002120	Cerebral cortical atrophy	7466	WFS1	ORPHA:3463
HP:0002120	Cerebral cortical atrophy	6638	SNRPN	OMIM:105830
HP:0002120	Cerebral cortical atrophy	6638	SNRPN	ORPHA:177907
HP:0002120	Cerebral cortical atrophy	7337	UBE3A	OMIM:105830
HP:0002120	Cerebral cortical atrophy	1859	DYRK1A	ORPHA:464311
HP:0002120	Cerebral cortical atrophy	1859	DYRK1A	ORPHA:268261
HP:0002120	Cerebral cortical atrophy	1859	DYRK1A	OMIM:614104
HP:0002120	Cerebral cortical atrophy	2896	GRN	OMIM:607485
HP:0002120	Cerebral cortical atrophy	11128	POLR3A	ORPHA:447896
HP:0002120	Cerebral cortical atrophy	11128	POLR3A	OMIM:607694
HP:0002120	Cerebral cortical atrophy	55343	SLC35C1	OMIM:266265
HP:0002120	Cerebral cortical atrophy	8517	IKBKG	ORPHA:464
HP:0002120	Cerebral cortical atrophy	4644	MYO5A	ORPHA:33445
HP:0002120	Cerebral cortical atrophy	51633	OTUD6B	ORPHA:505237
HP:0002120	Cerebral cortical atrophy	4094	MAF	ORPHA:1272
HP:0002120	Cerebral cortical atrophy	5621	PRNP	ORPHA:157941
HP:0002120	Cerebral cortical atrophy	56098	PCDHGC4	OMIM:619880
HP:0002120	Cerebral cortical atrophy	54499	TMCO1	ORPHA:1394
HP:0002120	Cerebral cortical atrophy	9562	MINPP1	OMIM:619527
HP:0002120	Cerebral cortical atrophy	2558	GABRA5	OMIM:618559
HP:0002120	Cerebral cortical atrophy	6311	ATXN2	ORPHA:98756
HP:0002120	Cerebral cortical atrophy	56652	TWNK	OMIM:271245
HP:0002120	Cerebral cortical atrophy	8573	CASK	ORPHA:163937
HP:0002120	Cerebral cortical atrophy	22906	TRAK1	OMIM:618201
HP:0002120	Cerebral cortical atrophy	54941	RNF125	OMIM:616260
HP:0002120	Cerebral cortical atrophy	22930	RAB3GAP1	ORPHA:1387
HP:0002120	Cerebral cortical atrophy	22930	RAB3GAP1	ORPHA:2510
HP:0002120	Cerebral cortical atrophy	25782	RAB3GAP2	ORPHA:1387
HP:0002120	Cerebral cortical atrophy	25782	RAB3GAP2	ORPHA:401830
HP:0002120	Cerebral cortical atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0002120	Cerebral cortical atrophy	283989	TSEN54	OMIM:277470
HP:0002120	Cerebral cortical atrophy	5664	PSEN2	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	10452	TOMM40	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	351	APP	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	6653	SORL1	ORPHA:1020
HP:0002120	Cerebral cortical atrophy	64116	SLC39A8	ORPHA:468699
HP:0002120	Cerebral cortical atrophy	404672	GTF2H5	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	833	CARS1	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	2068	ERCC2	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	2068	ERCC2	ORPHA:910
HP:0002120	Cerebral cortical atrophy	2068	ERCC2	ORPHA:1466
HP:0002120	Cerebral cortical atrophy	7737	RNF113A	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	136647	MPLKIP	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	136647	MPLKIP	OMIM:234050
HP:0002120	Cerebral cortical atrophy	6897	TARS1	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	2071	ERCC3	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	2071	ERCC3	ORPHA:910
HP:0002120	Cerebral cortical atrophy	2961	GTF2E2	ORPHA:33364
HP:0002120	Cerebral cortical atrophy	51750	RTEL1	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	65057	ACD	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	5073	PARN	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	7015	TERT	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	26277	TINF2	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	1736	DKC1	ORPHA:3322
HP:0002120	Cerebral cortical atrophy	79053	ALG8	ORPHA:79325
HP:0002120	Cerebral cortical atrophy	2776	GNAQ	ORPHA:3205
HP:0002120	Cerebral cortical atrophy	2776	GNAQ	OMIM:185300
HP:0002120	Cerebral cortical atrophy	8295	TRRAP	OMIM:618454
HP:0002120	Cerebral cortical atrophy	58497	PRUNE1	OMIM:617481
HP:0002120	Cerebral cortical atrophy	2583	B4GALNT1	OMIM:609195
HP:0002120	Cerebral cortical atrophy	2583	B4GALNT1	ORPHA:101006
HP:0002120	Cerebral cortical atrophy	11232	POLG2	OMIM:619425
HP:0002120	Cerebral cortical atrophy	7407	VARS1	OMIM:617802
HP:0002120	Cerebral cortical atrophy	57724	EPG5	ORPHA:1493
HP:0002120	Cerebral cortical atrophy	4204	MECP2	OMIM:312750
HP:0002120	Cerebral cortical atrophy	81603	TRIM8	OMIM:619428
HP:0002120	Cerebral cortical atrophy	5277	PIGA	OMIM:301072
HP:0002120	Cerebral cortical atrophy	5277	PIGA	OMIM:300868
HP:0002120	Cerebral cortical atrophy	7507	XPA	ORPHA:910
HP:0002120	Cerebral cortical atrophy	7508	XPC	ORPHA:910
HP:0002120	Cerebral cortical atrophy	1643	DDB2	ORPHA:910
HP:0002120	Cerebral cortical atrophy	2072	ERCC4	ORPHA:910
HP:0002120	Cerebral cortical atrophy	2073	ERCC5	ORPHA:910
HP:0002120	Cerebral cortical atrophy	2073	ERCC5	ORPHA:1466
HP:0002120	Cerebral cortical atrophy	55703	POLR3B	OMIM:607694
HP:0002120	Cerebral cortical atrophy	1203	CLN5	ORPHA:228360
HP:0002120	Cerebral cortical atrophy	1203	CLN5	OMIM:256731
HP:0002120	Cerebral cortical atrophy	4558	MT-TF	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4572	MT-TQ	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4512	MT-CO1	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4513	MT-CO2	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4514	MT-CO3	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4578	MT-TW	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4540	MT-ND5	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4541	MT-ND6	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4535	MT-ND1	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4538	MT-ND4	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4567	MT-TL1	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4574	MT-TS1	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4575	MT-TS2	ORPHA:550
HP:0002120	Cerebral cortical atrophy	4564	MT-TH	ORPHA:550
HP:0002120	Cerebral cortical atrophy	27238	GPKOW	ORPHA:2570
HP:0002120	Cerebral cortical atrophy	8925	HERC1	OMIM:617011
HP:0002120	Cerebral cortical atrophy	8925	HERC1	ORPHA:457359
HP:0002120	Cerebral cortical atrophy	92935	MARS2	OMIM:611390
HP:0002120	Cerebral cortical atrophy	92935	MARS2	ORPHA:314603
HP:0002120	Cerebral cortical atrophy	4598	MVK	ORPHA:29
HP:0002120	Cerebral cortical atrophy	54832	VPS13C	OMIM:616840
HP:0002120	Cerebral cortical atrophy	55746	NUP133	OMIM:618349
HP:0002120	Cerebral cortical atrophy	79813	EHMT1	ORPHA:96147
HP:0002120	Cerebral cortical atrophy	57679	ALS2	OMIM:606353
HP:0002120	Cerebral cortical atrophy	27249	MMADHC	OMIM:277410
HP:0002120	Cerebral cortical atrophy	55630	SLC39A4	ORPHA:37
HP:0002120	Cerebral cortical atrophy	116461	TSEN15	OMIM:617026
HP:0002120	Cerebral cortical atrophy	2902	GRIN1	OMIM:617820
HP:0002120	Cerebral cortical atrophy	8085	KMT2D	ORPHA:2322
HP:0002120	Cerebral cortical atrophy	7403	KDM6A	ORPHA:2322
HP:0002120	Cerebral cortical atrophy	998	CDC42	OMIM:616737
HP:0002120	Cerebral cortical atrophy	50	ACO2	OMIM:614559
HP:0002120	Cerebral cortical atrophy	10166	SLC25A15	ORPHA:415
HP:0002120	Cerebral cortical atrophy	10166	SLC25A15	OMIM:238970
HP:0002120	Cerebral cortical atrophy	6904	TBCD	ORPHA:496641
HP:0002120	Cerebral cortical atrophy	29925	GMPPB	ORPHA:370968
HP:0002120	Cerebral cortical atrophy	79147	FKRP	ORPHA:370968
HP:0002120	Cerebral cortical atrophy	9215	LARGE1	ORPHA:370968
HP:0002120	Cerebral cortical atrophy	10585	POMT1	ORPHA:370968
HP:0002120	Cerebral cortical atrophy	56915	EXOSC5	OMIM:619576
HP:0002120	Cerebral cortical atrophy	23221	RHOBTB2	OMIM:618004
HP:0002120	Cerebral cortical atrophy	8867	SYNJ1	OMIM:615530
HP:0002120	Cerebral cortical atrophy	6928	HNF1B	OMIM:137920
HP:0002120	Cerebral cortical atrophy	2067	ERCC1	ORPHA:1466
HP:0002120	Cerebral cortical atrophy	2074	ERCC6	ORPHA:1466
HP:0002120	Cerebral cortical atrophy	6709	SPTAN1	OMIM:613477
HP:0002120	Cerebral cortical atrophy	54834	GDAP2	OMIM:618369
HP:0002120	Cerebral cortical atrophy	2629	GBA1	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	23317	DNAJC13	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	1981	EIF4G1	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	55737	VPS35	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	120892	LRRK2	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	26058	GIGYF2	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	6622	SNCA	ORPHA:411602
HP:0002120	Cerebral cortical atrophy	5604	MAP2K1	ORPHA:1340
HP:0002120	Cerebral cortical atrophy	5605	MAP2K2	ORPHA:1340
HP:0002120	Cerebral cortical atrophy	51608	GET4	OMIM:620200
HP:0002120	Cerebral cortical atrophy	100506658	OCLN	ORPHA:1229
HP:0002120	Cerebral cortical atrophy	3265	HRAS	ORPHA:3071
HP:0002120	Cerebral cortical atrophy	9758	FRMPD4	OMIM:300983
HP:0002120	Cerebral cortical atrophy	83696	TRAPPC9	ORPHA:352530
HP:0002120	Cerebral cortical atrophy	128637	TBC1D20	OMIM:615663
HP:0002120	Cerebral cortical atrophy	128637	TBC1D20	ORPHA:2510
HP:0002120	Cerebral cortical atrophy	26040	SETBP1	ORPHA:798
HP:0002120	Cerebral cortical atrophy	23476	BRD4	ORPHA:199
HP:0002120	Cerebral cortical atrophy	9126	SMC3	ORPHA:199
HP:0002120	Cerebral cortical atrophy	8243	SMC1A	ORPHA:199
HP:0002120	Cerebral cortical atrophy	25836	NIPBL	ORPHA:199
HP:0002120	Cerebral cortical atrophy	55869	HDAC8	ORPHA:199
HP:0002120	Cerebral cortical atrophy	5885	RAD21	ORPHA:199
HP:0002120	Cerebral cortical atrophy	9791	PTDSS1	OMIM:151050
HP:0002120	Cerebral cortical atrophy	7399	USH2A	ORPHA:231178
HP:0002120	Cerebral cortical atrophy	79955	PDZD7	ORPHA:231178
HP:0002120	Cerebral cortical atrophy	4647	MYO7A	ORPHA:231178
HP:0002120	Cerebral cortical atrophy	4647	MYO7A	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	25861	WHRN	ORPHA:231178
HP:0002120	Cerebral cortical atrophy	84059	ADGRV1	ORPHA:231178
HP:0002120	Cerebral cortical atrophy	6197	RPS6KA3	ORPHA:192
HP:0002120	Cerebral cortical atrophy	9150	CTDP1	ORPHA:48431
HP:0002120	Cerebral cortical atrophy	94005	PIGS	OMIM:618143
HP:0002120	Cerebral cortical atrophy	22866	CNKSR2	OMIM:301008
HP:0002120	Cerebral cortical atrophy	10815	CPLX1	OMIM:617976
HP:0002120	Cerebral cortical atrophy	22931	RAB18	OMIM:614222
HP:0002120	Cerebral cortical atrophy	22931	RAB18	ORPHA:2510
HP:0002120	Cerebral cortical atrophy	7305	TYROBP	ORPHA:2770
HP:0002120	Cerebral cortical atrophy	8905	AP1S2	ORPHA:1568
HP:0002120	Cerebral cortical atrophy	10283	CWC27	ORPHA:166035
HP:0002120	Cerebral cortical atrophy	80055	PGAP1	ORPHA:401820
HP:0002120	Cerebral cortical atrophy	60558	GUF1	OMIM:617065
HP:0002120	Cerebral cortical atrophy	122553	TRAPPC6B	OMIM:617862
HP:0002120	Cerebral cortical atrophy	57688	ZSWIM6	OMIM:617865
HP:0002120	Cerebral cortical atrophy	2893	GRIA4	OMIM:617864
HP:0002120	Cerebral cortical atrophy	79152	FA2H	ORPHA:171629
HP:0002120	Cerebral cortical atrophy	57038	RARS2	OMIM:611523
HP:0002120	Cerebral cortical atrophy	55164	SHQ1	OMIM:619922
HP:0002120	Cerebral cortical atrophy	57704	GBA2	ORPHA:320391
HP:0002120	Cerebral cortical atrophy	6785	ELOVL4	OMIM:133190
HP:0002120	Cerebral cortical atrophy	3090	HIC1	ORPHA:531
HP:0002120	Cerebral cortical atrophy	5048	PAFAH1B1	ORPHA:531
HP:0002120	Cerebral cortical atrophy	7531	YWHAE	ORPHA:531
HP:0002120	Cerebral cortical atrophy	10717	AP4B1	ORPHA:280763
HP:0002120	Cerebral cortical atrophy	9179	AP4M1	ORPHA:280763
HP:0002120	Cerebral cortical atrophy	11154	AP4S1	ORPHA:280763
HP:0002120	Cerebral cortical atrophy	95	ACY1	OMIM:609924
HP:0002120	Cerebral cortical atrophy	25978	CHMP2B	OMIM:600795
HP:0002120	Cerebral cortical atrophy	1716	DGUOK	OMIM:617070
HP:0002120	Cerebral cortical atrophy	340533	NEXMIF	ORPHA:85277
HP:0002120	Cerebral cortical atrophy	29920	PYCR2	OMIM:616420
HP:0002120	Cerebral cortical atrophy	10479	SLC9A6	ORPHA:85278
HP:0002120	Cerebral cortical atrophy	777	CACNA1E	OMIM:618285
HP:0002120	Cerebral cortical atrophy	85378	TUBGCP6	ORPHA:2518
HP:0002120	Cerebral cortical atrophy	27229	TUBGCP4	ORPHA:2518
HP:0002120	Cerebral cortical atrophy	10733	PLK4	ORPHA:2518
HP:0002120	Cerebral cortical atrophy	55005	RMND1	OMIM:614922
HP:0002120	Cerebral cortical atrophy	4693	NDP	ORPHA:649
HP:0002120	Cerebral cortical atrophy	4508	MT-ATP6	ORPHA:644
HP:0002120	Cerebral cortical atrophy	26123	TCTN3	ORPHA:2753
HP:0002120	Cerebral cortical atrophy	71	ACTG1	ORPHA:2995
HP:0002120	Cerebral cortical atrophy	60	ACTB	ORPHA:2995
HP:0002120	Cerebral cortical atrophy	2801	GOLGA2	OMIM:620240
HP:0002120	Cerebral cortical atrophy	23299	BICD2	OMIM:618291
HP:0002120	Cerebral cortical atrophy	64072	CDH23	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	10083	USH1C	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	124590	USH1G	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	83715	ESPN	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	10518	CIB2	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	65217	PCDH15	ORPHA:231169
HP:0002120	Cerebral cortical atrophy	116150	NUS1	OMIM:617082
HP:0002120	Cerebral cortical atrophy	23404	EXOSC2	OMIM:617763
HP:0002120	Cerebral cortical atrophy	79587	CARS2	OMIM:616672
HP:0002120	Cerebral cortical atrophy	221692	PHACTR1	OMIM:618298
HP:0002120	Cerebral cortical atrophy	4858	NOVA2	OMIM:618859
HP:0002120	Cerebral cortical atrophy	29110	TBK1	OMIM:616439
HP:0002120	Cerebral cortical atrophy	9373	PLAA	OMIM:617527
HP:0002120	Cerebral cortical atrophy	170302	ARX	ORPHA:2508
HP:0002120	Cerebral cortical atrophy	8878	SQSTM1	OMIM:616437
HP:0002120	Cerebral cortical atrophy	25974	MMACHC	OMIM:277400
HP:0002120	Cerebral cortical atrophy	5052	PRDX1	OMIM:277400
HP:0002120	Cerebral cortical atrophy	267010	RNU12	ORPHA:512260
HP:0002120	Cerebral cortical atrophy	4208	MEF2C	ORPHA:228384
HP:0002120	Cerebral cortical atrophy	2892	GRIA3	OMIM:300699
HP:0002120	Cerebral cortical atrophy	80208	SPG11	ORPHA:2822
HP:0002120	Cerebral cortical atrophy	23230	VPS13A	ORPHA:2388
HP:0002120	Cerebral cortical atrophy	4983	OPHN1	ORPHA:137831
HP:0002120	Cerebral cortical atrophy	55681	SCYL2	OMIM:618766
HP:0002120	Cerebral cortical atrophy	3097	HIVEP2	OMIM:616977
HP:0002120	Cerebral cortical atrophy	25973	PARS2	OMIM:618437
HP:0002120	Cerebral cortical atrophy	7415	VCP	OMIM:167320
HP:0002120	Cerebral cortical atrophy	1528	CYB5A	ORPHA:621
HP:0002120	Cerebral cortical atrophy	1727	CYB5R3	ORPHA:621
HP:0002120	Cerebral cortical atrophy	29954	POMT2	ORPHA:206559
HP:0002120	Cerebral cortical atrophy	5147	PDE6D	OMIM:615665
HP:0002120	Cerebral cortical atrophy	104	ADARB1	OMIM:618862
HP:0002120	Cerebral cortical atrophy	9382	COG1	ORPHA:263508
HP:0002120	Cerebral cortical atrophy	54664	TMEM106B	ORPHA:100070
HP:0002120	Cerebral cortical atrophy	4137	MAPT	ORPHA:100070
HP:0002120	Cerebral cortical atrophy	10273	STUB1	ORPHA:412057
HP:0002120	Cerebral cortical atrophy	4692	NDN	ORPHA:177904
HP:0002120	Cerebral cortical atrophy	4692	NDN	ORPHA:177901
HP:0002120	Cerebral cortical atrophy	4692	NDN	ORPHA:98754
HP:0002120	Cerebral cortical atrophy	54551	MAGEL2	ORPHA:177904
HP:0002120	Cerebral cortical atrophy	54551	MAGEL2	ORPHA:177901
HP:0002120	Cerebral cortical atrophy	54551	MAGEL2	ORPHA:98754
HP:0002120	Cerebral cortical atrophy	4948	OCA2	ORPHA:177904
HP:0002120	Cerebral cortical atrophy	4948	OCA2	ORPHA:177901
HP:0002120	Cerebral cortical atrophy	4948	OCA2	ORPHA:98754
HP:0002120	Cerebral cortical atrophy	26278	SACS	ORPHA:98
HP:0002120	Cerebral cortical atrophy	10430	TMEM147	OMIM:620075
HP:0002120	Cerebral cortical atrophy	85440	DOCK7	ORPHA:411986
HP:0002120	Cerebral cortical atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0002120	Cerebral cortical atrophy	2917	GRM7	OMIM:618922
HP:0002120	Cerebral cortical atrophy	57094	CPA6	OMIM:614418
HP:0002120	Cerebral cortical atrophy	29998	BICRA	OMIM:619325
HP:0002120	Cerebral cortical atrophy	4750	NEK1	OMIM:617892
HP:0006824	Cranial nerve paralysis	4359	MPZ	OMIM:618184
HP:0006824	Cranial nerve paralysis	91574	MTRFR	ORPHA:254930
HP:0006824	Cranial nerve paralysis	91574	MTRFR	OMIM:613559
HP:0006824	Cranial nerve paralysis	8506	CNTNAP1	OMIM:618186
HP:0006824	Cranial nerve paralysis	8506	CNTNAP1	OMIM:616286
HP:0006824	Cranial nerve paralysis	112	ADCY6	OMIM:616287
HP:0006824	Cranial nerve paralysis	2733	GLE1	OMIM:611890
HP:0006824	Cranial nerve paralysis	1410	CRYAB	ORPHA:399058
HP:0006824	Cranial nerve paralysis	19	ABCA1	OMIM:205400
HP:0006824	Cranial nerve paralysis	19	ABCA1	ORPHA:31150
HP:0006824	Cranial nerve paralysis	9997	SCO2	ORPHA:521411
HP:0006824	Cranial nerve paralysis	9289	ADGRG1	ORPHA:98889
HP:0006824	Cranial nerve paralysis	5297	PI4KA	ORPHA:98889
HP:0006824	Cranial nerve paralysis	27286	SRPX2	ORPHA:98889
HP:0006824	Cranial nerve paralysis	8803	SUCLA2	OMIM:612073
HP:0006824	Cranial nerve paralysis	6472	SHMT2	OMIM:619121
HP:0006824	Cranial nerve paralysis	10730	YME1L1	OMIM:617302
HP:0006824	Cranial nerve paralysis	2218	FKTN	ORPHA:370980
HP:0006824	Cranial nerve paralysis	729920	CRPPA	ORPHA:370980
HP:0006824	Cranial nerve paralysis	1760	DMPK	OMIM:160900
HP:0006824	Cranial nerve paralysis	9990	SLC12A6	OMIM:218000
HP:0006824	Cranial nerve paralysis	4649	MYO9A	ORPHA:98914
HP:0006824	Cranial nerve paralysis	1103	CHAT	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6576	SLC25A1	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6843	VAMP1	ORPHA:98914
HP:0006824	Cranial nerve paralysis	127833	SYT2	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6572	SLC18A3	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6616	SNAP25	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6390	SDHB	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6390	SDHB	OMIM:115310
HP:0006824	Cranial nerve paralysis	6391	SDHC	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6391	SDHC	OMIM:605373
HP:0006824	Cranial nerve paralysis	6392	SDHD	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6392	SDHD	OMIM:168000
HP:0006824	Cranial nerve paralysis	28962	OSTM1	ORPHA:85179
HP:0006824	Cranial nerve paralysis	10312	TCIRG1	OMIM:259700
HP:0006824	Cranial nerve paralysis	10312	TCIRG1	ORPHA:667
HP:0006824	Cranial nerve paralysis	5781	PTPN11	ORPHA:2499
HP:0006824	Cranial nerve paralysis	8314	BAP1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	4771	NF2	ORPHA:2495
HP:0006824	Cranial nerve paralysis	4771	NF2	ORPHA:637
HP:0006824	Cranial nerve paralysis	6598	SMARCB1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6598	SMARCB1	ORPHA:99966
HP:0006824	Cranial nerve paralysis	5155	PDGFB	ORPHA:2495
HP:0006824	Cranial nerve paralysis	84231	TRAF7	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6608	SMO	ORPHA:2495
HP:0006824	Cranial nerve paralysis	207	AKT1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5290	PIK3CA	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5290	PIK3CA	ORPHA:99802
HP:0006824	Cranial nerve paralysis	7015	TERT	ORPHA:2495
HP:0006824	Cranial nerve paralysis	51684	SUFU	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6605	SMARCE1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5590	PRKCZ	ORPHA:1606
HP:0006824	Cranial nerve paralysis	2563	GABRD	ORPHA:1606
HP:0006824	Cranial nerve paralysis	23013	SPEN	ORPHA:1606
HP:0006824	Cranial nerve paralysis	8510	MMP23B	ORPHA:1606
HP:0006824	Cranial nerve paralysis	7798	LUZP1	ORPHA:1606
HP:0006824	Cranial nerve paralysis	6497	SKI	ORPHA:1606
HP:0006824	Cranial nerve paralysis	10630	PDPN	ORPHA:1606
HP:0006824	Cranial nerve paralysis	3339	HSPG2	ORPHA:1606
HP:0006824	Cranial nerve paralysis	10277	UBE4B	ORPHA:1606
HP:0006824	Cranial nerve paralysis	8514	KCNAB2	ORPHA:1606
HP:0006824	Cranial nerve paralysis	473	RERE	ORPHA:1606
HP:0006824	Cranial nerve paralysis	63976	PRDM16	ORPHA:1606
HP:0006824	Cranial nerve paralysis	54897	CASZ1	ORPHA:1606
HP:0006824	Cranial nerve paralysis	1493	CTLA4	ORPHA:900
HP:0006824	Cranial nerve paralysis	26191	PTPN22	ORPHA:900
HP:0006824	Cranial nerve paralysis	3115	HLA-DPB1	ORPHA:900
HP:0006824	Cranial nerve paralysis	5657	PRTN3	ORPHA:900
HP:0006824	Cranial nerve paralysis	3113	HLA-DPA1	ORPHA:900
HP:0006824	Cranial nerve paralysis	1776	DNASE1L3	ORPHA:36412
HP:0006824	Cranial nerve paralysis	79581	SLC52A2	OMIM:614707
HP:0006824	Cranial nerve paralysis	1186	CLCN7	ORPHA:667
HP:0006824	Cranial nerve paralysis	1186	CLCN7	ORPHA:53
HP:0006824	Cranial nerve paralysis	29887	SNX10	ORPHA:667
HP:0006824	Cranial nerve paralysis	8600	TNFSF11	ORPHA:667
HP:0006824	Cranial nerve paralysis	54949	SDHAF2	OMIM:601650
HP:0006824	Cranial nerve paralysis	4221	MEN1	ORPHA:2965
HP:0006824	Cranial nerve paralysis	64072	CDH23	ORPHA:2965
HP:0006824	Cranial nerve paralysis	64072	CDH23	ORPHA:91347
HP:0006824	Cranial nerve paralysis	9049	AIP	ORPHA:2965
HP:0006824	Cranial nerve paralysis	1130	LYST	OMIM:214500
HP:0006824	Cranial nerve paralysis	1130	LYST	ORPHA:167
HP:0006824	Cranial nerve paralysis	6299	SALL1	ORPHA:857
HP:0006824	Cranial nerve paralysis	51339	DACT1	ORPHA:857
HP:0006824	Cranial nerve paralysis	2475	MTOR	ORPHA:99802
HP:0006824	Cranial nerve paralysis	10000	AKT3	ORPHA:99802
HP:0006824	Cranial nerve paralysis	3662	IRF4	ORPHA:3452
HP:0006824	Cranial nerve paralysis	7132	TNFRSF1A	ORPHA:32960
HP:0006824	Cranial nerve paralysis	55636	CHD7	ORPHA:138
HP:0006824	Cranial nerve paralysis	9723	SEMA3E	ORPHA:138
HP:0006824	Cranial nerve paralysis	389827	MYMK	ORPHA:1358
HP:0006824	Cranial nerve paralysis	101929726	MYMX	ORPHA:1358
HP:0006824	Cranial nerve paralysis	114548	NLRP3	ORPHA:575
HP:0006824	Cranial nerve paralysis	5980	REV3L	ORPHA:570
HP:0006824	Cranial nerve paralysis	23129	PLXND1	ORPHA:570
HP:0006824	Cranial nerve paralysis	22943	DKK1	ORPHA:268882
HP:0006824	Cranial nerve paralysis	672	BRCA1	ORPHA:84
HP:0006824	Cranial nerve paralysis	10459	MAD2L2	ORPHA:84
HP:0006824	Cranial nerve paralysis	7516	XRCC2	ORPHA:84
HP:0006824	Cranial nerve paralysis	29089	UBE2T	ORPHA:84
HP:0006824	Cranial nerve paralysis	675	BRCA2	ORPHA:84
HP:0006824	Cranial nerve paralysis	55120	FANCL	ORPHA:84
HP:0006824	Cranial nerve paralysis	2177	FANCD2	ORPHA:84
HP:0006824	Cranial nerve paralysis	2175	FANCA	ORPHA:84
HP:0006824	Cranial nerve paralysis	2187	FANCB	ORPHA:84
HP:0006824	Cranial nerve paralysis	2176	FANCC	ORPHA:84
HP:0006824	Cranial nerve paralysis	2178	FANCE	ORPHA:84
HP:0006824	Cranial nerve paralysis	2188	FANCF	ORPHA:84
HP:0006824	Cranial nerve paralysis	2189	FANCG	ORPHA:84
HP:0006824	Cranial nerve paralysis	5888	RAD51	ORPHA:84
HP:0006824	Cranial nerve paralysis	5889	RAD51C	ORPHA:84
HP:0006824	Cranial nerve paralysis	55159	RFWD3	ORPHA:84
HP:0006824	Cranial nerve paralysis	83990	BRIP1	ORPHA:84
HP:0006824	Cranial nerve paralysis	57697	FANCM	ORPHA:84
HP:0006824	Cranial nerve paralysis	79728	PALB2	ORPHA:84
HP:0006824	Cranial nerve paralysis	84464	SLX4	ORPHA:84
HP:0006824	Cranial nerve paralysis	2072	ERCC4	ORPHA:84
HP:0006824	Cranial nerve paralysis	55215	FANCI	ORPHA:84
HP:0006824	Cranial nerve paralysis	5376	PMP22	ORPHA:640
HP:0006824	Cranial nerve paralysis	157570	ESCO2	OMIM:268300
HP:0006824	Cranial nerve paralysis	4615	MYD88	ORPHA:33226
HP:0006824	Cranial nerve paralysis	5728	PTEN	ORPHA:65285
HP:0006824	Cranial nerve paralysis	4893	NRAS	OMIM:249400
HP:0006824	Cranial nerve paralysis	80199	FUZ	ORPHA:1136
HP:0006824	Cranial nerve paralysis	91147	TMEM67	ORPHA:140976
HP:0006824	Cranial nerve paralysis	8792	TNFRSF11A	OMIM:602080
HP:0006824	Cranial nerve paralysis	3418	IDH2	ORPHA:163634
HP:0006824	Cranial nerve paralysis	3417	IDH1	ORPHA:163634
HP:0006824	Cranial nerve paralysis	3145	HMBS	ORPHA:79276
HP:0006824	Cranial nerve paralysis	113278	SLC52A3	OMIM:211530
HP:0006824	Cranial nerve paralysis	760	CA2	ORPHA:2785
HP:0006824	Cranial nerve paralysis	149233	IL23R	ORPHA:117
HP:0006824	Cranial nerve paralysis	6775	STAT4	ORPHA:117
HP:0006824	Cranial nerve paralysis	3586	IL10	ORPHA:117
HP:0006824	Cranial nerve paralysis	4210	MEFV	ORPHA:117
HP:0006824	Cranial nerve paralysis	1230	CCR1	ORPHA:117
HP:0006824	Cranial nerve paralysis	355	FAS	ORPHA:117
HP:0006824	Cranial nerve paralysis	3592	IL12A	ORPHA:117
HP:0006824	Cranial nerve paralysis	101928376	IL12A-AS1	ORPHA:117
HP:0006824	Cranial nerve paralysis	3106	HLA-B	ORPHA:117
HP:0006824	Cranial nerve paralysis	7099	TLR4	ORPHA:117
HP:0006824	Cranial nerve paralysis	3459	IFNGR1	ORPHA:117
HP:0006824	Cranial nerve paralysis	720	C4A	ORPHA:117
HP:0006824	Cranial nerve paralysis	337867	UBAC2	ORPHA:117
HP:0006824	Cranial nerve paralysis	51752	ERAP1	ORPHA:117
HP:0006824	Cranial nerve paralysis	8302	KLRC4	ORPHA:117
HP:0006824	Cranial nerve paralysis	4000	LMNA	ORPHA:2348
HP:0006824	Cranial nerve paralysis	80232	WDR26	ORPHA:513456
HP:0006824	Cranial nerve paralysis	23102	TBC1D2B	ORPHA:397973
HP:0006824	Cranial nerve paralysis	128240	NAXE	OMIM:617186
HP:0006824	Cranial nerve paralysis	51244	CCDC174	OMIM:616816
HP:0006824	Cranial nerve paralysis	5660	PSAP	OMIM:610539
HP:0006824	Cranial nerve paralysis	84570	COL25A1	ORPHA:91411
HP:0006824	Cranial nerve paralysis	79776	ZFHX4	ORPHA:91411
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:97240
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171436
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171433
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171430
HP:0006824	Cranial nerve paralysis	58	ACTA1	OMIM:616852
HP:0006824	Cranial nerve paralysis	58	ACTA1	OMIM:161800
HP:0006824	Cranial nerve paralysis	50964	SOST	OMIM:269500
HP:0006824	Cranial nerve paralysis	50964	SOST	ORPHA:3416
HP:0006824	Cranial nerve paralysis	50964	SOST	ORPHA:3152
HP:0006824	Cranial nerve paralysis	274	BIN1	ORPHA:169186
HP:0006824	Cranial nerve paralysis	274	BIN1	OMIM:255200
HP:0006824	Cranial nerve paralysis	10290	SPEG	ORPHA:169186
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:169186
HP:0006824	Cranial nerve paralysis	6261	RYR1	OMIM:255320
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:178145
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:98905
HP:0006824	Cranial nerve paralysis	7273	TTN	ORPHA:169186
HP:0006824	Cranial nerve paralysis	291	SLC25A4	ORPHA:254892
HP:0006824	Cranial nerve paralysis	291	SLC25A4	OMIM:609283
HP:0006824	Cranial nerve paralysis	5428	POLG	ORPHA:254892
HP:0006824	Cranial nerve paralysis	5428	POLG	OMIM:258450
HP:0006824	Cranial nerve paralysis	5428	POLG	ORPHA:254886
HP:0006824	Cranial nerve paralysis	5428	POLG	OMIM:157640
HP:0006824	Cranial nerve paralysis	56652	TWNK	ORPHA:254892
HP:0006824	Cranial nerve paralysis	11232	POLG2	ORPHA:254892
HP:0006824	Cranial nerve paralysis	11232	POLG2	OMIM:610131
HP:0006824	Cranial nerve paralysis	50484	RRM2B	ORPHA:254892
HP:0006824	Cranial nerve paralysis	22827	PUF60	ORPHA:508498
HP:0006824	Cranial nerve paralysis	55906	ZC4H2	OMIM:301041
HP:0006824	Cranial nerve paralysis	55906	ZC4H2	OMIM:314580
HP:0006824	Cranial nerve paralysis	2673	GFPT1	OMIM:608931
HP:0006824	Cranial nerve paralysis	2673	GFPT1	ORPHA:353327
HP:0006824	Cranial nerve paralysis	2673	GFPT1	OMIM:610542
HP:0006824	Cranial nerve paralysis	1145	CHRNE	OMIM:608931
HP:0006824	Cranial nerve paralysis	1145	CHRNE	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1291	COL6A1	OMIM:254090
HP:0006824	Cranial nerve paralysis	1292	COL6A2	OMIM:254090
HP:0006824	Cranial nerve paralysis	1292	COL6A2	OMIM:255600
HP:0006824	Cranial nerve paralysis	1293	COL6A3	OMIM:254090
HP:0006824	Cranial nerve paralysis	1144	CHRND	OMIM:616322
HP:0006824	Cranial nerve paralysis	1144	CHRND	OMIM:616323
HP:0006824	Cranial nerve paralysis	1144	CHRND	ORPHA:98913
HP:0006824	Cranial nerve paralysis	2138	EYA1	OMIM:113650
HP:0006824	Cranial nerve paralysis	2138	EYA1	ORPHA:107
HP:0006824	Cranial nerve paralysis	2138	EYA1	ORPHA:52429
HP:0006824	Cranial nerve paralysis	6495	SIX1	OMIM:113650
HP:0006824	Cranial nerve paralysis	6495	SIX1	ORPHA:107
HP:0006824	Cranial nerve paralysis	6495	SIX1	ORPHA:52429
HP:0006824	Cranial nerve paralysis	56203	LMOD3	OMIM:616165
HP:0006824	Cranial nerve paralysis	56203	LMOD3	ORPHA:171436
HP:0006824	Cranial nerve paralysis	56203	LMOD3	ORPHA:171430
HP:0006824	Cranial nerve paralysis	2697	GJA1	ORPHA:1522
HP:0006824	Cranial nerve paralysis	2697	GJA1	OMIM:218400
HP:0006824	Cranial nerve paralysis	56172	ANKH	ORPHA:1522
HP:0006824	Cranial nerve paralysis	56172	ANKH	OMIM:123000
HP:0006824	Cranial nerve paralysis	4593	MUSK	OMIM:616325
HP:0006824	Cranial nerve paralysis	4593	MUSK	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1305	COL13A1	OMIM:616720
HP:0006824	Cranial nerve paralysis	1305	COL13A1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	23394	ADNP	OMIM:615873
HP:0006824	Cranial nerve paralysis	400916	CHCHD10	OMIM:616209
HP:0006824	Cranial nerve paralysis	4038	LRP4	OMIM:614305
HP:0006824	Cranial nerve paralysis	4038	LRP4	ORPHA:98913
HP:0006824	Cranial nerve paralysis	4038	LRP4	ORPHA:3152
HP:0006824	Cranial nerve paralysis	7415	VCP	OMIM:167320
HP:0006824	Cranial nerve paralysis	1134	CHRNA1	OMIM:608930
HP:0006824	Cranial nerve paralysis	1134	CHRNA1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	4747	NEFL	OMIM:607684
HP:0006824	Cranial nerve paralysis	825	CAPN3	OMIM:253600
HP:0006824	Cranial nerve paralysis	57167	SALL4	OMIM:607323
HP:0006824	Cranial nerve paralysis	10049	DNAJB6	OMIM:603511
HP:0006824	Cranial nerve paralysis	1120	CHKB	OMIM:602541
HP:0006824	Cranial nerve paralysis	57165	GJC2	OMIM:608804
HP:0006824	Cranial nerve paralysis	7169	TPM2	ORPHA:171436
HP:0006824	Cranial nerve paralysis	7169	TPM2	ORPHA:171881
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171436
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171433
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171430
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171436
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171433
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171430
HP:0006824	Cranial nerve paralysis	1073	CFL2	ORPHA:171436
HP:0006824	Cranial nerve paralysis	60482	SLC5A7	OMIM:617143
HP:0006824	Cranial nerve paralysis	7084	TK2	ORPHA:254886
HP:0006824	Cranial nerve paralysis	92667	MGME1	OMIM:615084
HP:0006824	Cranial nerve paralysis	7170	TPM3	ORPHA:171433
HP:0006824	Cranial nerve paralysis	7170	TPM3	ORPHA:171881
HP:0006824	Cranial nerve paralysis	7170	TPM3	OMIM:255310
HP:0006824	Cranial nerve paralysis	29998	BICRA	OMIM:619325
HP:0006824	Cranial nerve paralysis	131377	KLHL40	ORPHA:171430
HP:0006824	Cranial nerve paralysis	131377	KLHL40	OMIM:615348
HP:0006824	Cranial nerve paralysis	9790	BMS1	ORPHA:1114
HP:0006824	Cranial nerve paralysis	5339	PLEC	ORPHA:1114
HP:0006824	Cranial nerve paralysis	10054	UBA2	ORPHA:1114
HP:0006824	Cranial nerve paralysis	3691	ITGB4	ORPHA:1114
HP:0006824	Cranial nerve paralysis	54567	DLL4	ORPHA:1114
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:3416
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:2790
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:178377
HP:0006824	Cranial nerve paralysis	84466	MEGF10	OMIM:614399
HP:0006824	Cranial nerve paralysis	3908	LAMA2	ORPHA:258
HP:0006824	Cranial nerve paralysis	4625	MYH7	OMIM:160500
HP:0006824	Cranial nerve paralysis	4625	MYH7	ORPHA:437572
HP:0006824	Cranial nerve paralysis	29925	GMPPB	ORPHA:353327
HP:0006824	Cranial nerve paralysis	29925	GMPPB	ORPHA:370968
HP:0006824	Cranial nerve paralysis	1798	DPAGT1	ORPHA:353327
HP:0006824	Cranial nerve paralysis	85365	ALG2	ORPHA:353327
HP:0006824	Cranial nerve paralysis	199857	ALG14	ORPHA:353327
HP:0006824	Cranial nerve paralysis	427	ASAH1	OMIM:159950
HP:0006824	Cranial nerve paralysis	79147	FKRP	ORPHA:370968
HP:0006824	Cranial nerve paralysis	79147	FKRP	OMIM:606612
HP:0006824	Cranial nerve paralysis	29954	POMT2	ORPHA:370968
HP:0006824	Cranial nerve paralysis	29954	POMT2	OMIM:613156
HP:0006824	Cranial nerve paralysis	9215	LARGE1	ORPHA:370968
HP:0006824	Cranial nerve paralysis	9215	LARGE1	OMIM:608840
HP:0006824	Cranial nerve paralysis	10585	POMT1	ORPHA:370968
HP:0006824	Cranial nerve paralysis	10585	POMT1	OMIM:613155
HP:0006824	Cranial nerve paralysis	57190	SELENON	OMIM:602771
HP:0006824	Cranial nerve paralysis	51816	ADA2	OMIM:182410
HP:0006824	Cranial nerve paralysis	10735	STAG2	OMIM:301022
HP:0006824	Cranial nerve paralysis	2483	FRG1	OMIM:158900
HP:0006824	Cranial nerve paralysis	23347	SMCHD1	OMIM:158901
HP:0006824	Cranial nerve paralysis	8878	SQSTM1	OMIM:617158
HP:0006824	Cranial nerve paralysis	84665	MYPN	ORPHA:171881
HP:0006824	Cranial nerve paralysis	84665	MYPN	OMIM:617336
HP:0006824	Cranial nerve paralysis	10381	TUBB3	OMIM:600638
HP:0006824	Cranial nerve paralysis	22954	TRIM32	OMIM:254110
HP:0006824	Cranial nerve paralysis	56244	BTNL2	OMIM:612387
HP:0006824	Cranial nerve paralysis	56244	BTNL2	ORPHA:797
HP:0006824	Cranial nerve paralysis	29967	LRP12	OMIM:164310
HP:0006824	Cranial nerve paralysis	10020	GNE	ORPHA:602
HP:0006824	Cranial nerve paralysis	7020	TFAP2A	OMIM:113620
HP:0006824	Cranial nerve paralysis	51651	PTRH2	ORPHA:456312
HP:0006824	Cranial nerve paralysis	1303	COL12A1	OMIM:616470
HP:0006824	Cranial nerve paralysis	7317	UBA1	OMIM:301830
HP:0006824	Cranial nerve paralysis	390594	KBTBD13	OMIM:609273
HP:0006824	Cranial nerve paralysis	139285	AMER1	ORPHA:2780
HP:0006824	Cranial nerve paralysis	139285	AMER1	OMIM:300373
HP:0006824	Cranial nerve paralysis	9531	BAG3	OMIM:612954
HP:0006824	Cranial nerve paralysis	9244	CRLF1	OMIM:272430
HP:0006824	Cranial nerve paralysis	3123	HLA-DRB1	ORPHA:797
HP:0006824	Cranial nerve paralysis	84617	TUBB6	OMIM:617732
HP:0006824	Cranial nerve paralysis	9791	PTDSS1	ORPHA:2658
HP:0006824	Cranial nerve paralysis	3211	HOXB1	OMIM:614744
HP:0006824	Cranial nerve paralysis	4534	MTM1	OMIM:310400
HP:0006824	Cranial nerve paralysis	7040	TGFB1	ORPHA:1328
HP:0006824	Cranial nerve paralysis	8085	KMT2D	OMIM:620186
HP:0006824	Cranial nerve paralysis	80704	SLC19A3	OMIM:607483
HP:0006824	Cranial nerve paralysis	147912	SIX5	ORPHA:107
HP:0006824	Cranial nerve paralysis	8898	MTMR2	OMIM:601382
HP:0006824	Cranial nerve paralysis	1785	DNM2	OMIM:160150
HP:0006824	Cranial nerve paralysis	64419	MTMR14	OMIM:160150
HP:0006824	Cranial nerve paralysis	2934	GSN	ORPHA:85448
HP:0006824	Cranial nerve paralysis	23095	KIF1B	OMIM:118210
HP:0006824	Cranial nerve paralysis	1674	DES	OMIM:601419
HP:0006824	Cranial nerve paralysis	8292	COLQ	ORPHA:98915
HP:0006824	Cranial nerve paralysis	3913	LAMB2	ORPHA:98915
HP:0006824	Cranial nerve paralysis	6444	SGCD	ORPHA:219
HP:0006824	Cranial nerve paralysis	23516	SLC39A14	OMIM:144755
HP:0006824	Cranial nerve paralysis	8106	PABPN1	OMIM:164300
HP:0006824	Cranial nerve paralysis	6329	SCN4A	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1140	CHRNB1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1140	CHRNB1	OMIM:616313
HP:0006824	Cranial nerve paralysis	5913	RAPSN	ORPHA:98913
HP:0006824	Cranial nerve paralysis	375790	AGRN	ORPHA:98913
HP:0006824	Cranial nerve paralysis	221264	AK9	ORPHA:98913
HP:0006824	Cranial nerve paralysis	285489	DOK7	ORPHA:98913
HP:0006824	Cranial nerve paralysis	55670	PEX26	ORPHA:772
HP:0006824	Cranial nerve paralysis	5824	PEX19	ORPHA:772
HP:0006824	Cranial nerve paralysis	5828	PEX2	ORPHA:772
HP:0006824	Cranial nerve paralysis	8504	PEX3	ORPHA:772
HP:0006824	Cranial nerve paralysis	9409	PEX16	ORPHA:772
HP:0006824	Cranial nerve paralysis	5190	PEX6	ORPHA:772
HP:0006824	Cranial nerve paralysis	8799	PEX11B	ORPHA:772
HP:0006824	Cranial nerve paralysis	5830	PEX5	ORPHA:772
HP:0006824	Cranial nerve paralysis	5189	PEX1	ORPHA:772
HP:0006824	Cranial nerve paralysis	5193	PEX12	ORPHA:772
HP:0006824	Cranial nerve paralysis	5194	PEX13	ORPHA:772
HP:0006824	Cranial nerve paralysis	5195	PEX14	ORPHA:772
HP:0006824	Cranial nerve paralysis	5192	PEX10	ORPHA:772
HP:0006824	Cranial nerve paralysis	339855	KY	OMIM:617114
HP:0006824	Cranial nerve paralysis	84168	ANTXR1	OMIM:230740
HP:0006824	Cranial nerve paralysis	57731	SPTBN4	OMIM:617519
HP:0006824	Cranial nerve paralysis	64127	NOD2	ORPHA:90340
HP:0006824	Cranial nerve paralysis	8139	GAN	ORPHA:643
HP:0006824	Cranial nerve paralysis	8139	GAN	OMIM:256850
HP:0006824	Cranial nerve paralysis	79628	SH3TC2	OMIM:601596
HP:0006824	Cranial nerve paralysis	4633	MYL2	OMIM:619424
HP:0006824	Cranial nerve paralysis	203859	ANO5	OMIM:611307
HP:0006824	Cranial nerve paralysis	203859	ANO5	ORPHA:206549
HP:0006824	Cranial nerve paralysis	1861	TOR1A	OMIM:128100
HP:0006824	Cranial nerve paralysis	59341	TRPV4	OMIM:181405
HP:0006824	Cranial nerve paralysis	9935	MAFB	ORPHA:233
HP:0006824	Cranial nerve paralysis	1123	CHN1	ORPHA:233
HP:0006824	Cranial nerve paralysis	54658	UGT1A1	ORPHA:79234
HP:0006824	Cranial nerve paralysis	55901	THSD1	ORPHA:231160
HP:0006824	Cranial nerve paralysis	7049	TGFBR3	ORPHA:231160
HP:0006824	Cranial nerve paralysis	1281	COL3A1	ORPHA:231160
HP:0006824	Cranial nerve paralysis	83854	ANGPTL6	ORPHA:231160
HP:0006824	Cranial nerve paralysis	2022	ENG	ORPHA:231160
HP:0006824	Cranial nerve paralysis	11198	SUPT16H	OMIM:619480
HP:0006824	Cranial nerve paralysis	3098	HK1	OMIM:618547
HP:0006824	Cranial nerve paralysis	23345	SYNE1	ORPHA:319332
HP:0006825	Pallor of dorsal columns of the spinal cord	23064	SETX	OMIM:602433
HP:0006827	Atrophy of the spinal cord	1130	LYST	ORPHA:167
HP:0006827	Atrophy of the spinal cord	23064	SETX	OMIM:602433
HP:0006827	Atrophy of the spinal cord	6687	SPG7	ORPHA:35689
HP:0006827	Atrophy of the spinal cord	5611	DNAJC3	ORPHA:445062
HP:0006827	Atrophy of the spinal cord	4524	MTHFR	ORPHA:395
HP:0006827	Atrophy of the spinal cord	10908	PNPLA6	ORPHA:139480
HP:0006827	Atrophy of the spinal cord	10908	PNPLA6	OMIM:612020
HP:0006827	Atrophy of the spinal cord	79152	FA2H	ORPHA:329308
HP:0006827	Atrophy of the spinal cord	215	ABCD1	ORPHA:139399
HP:0006827	Atrophy of the spinal cord	9420	CYP7B1	ORPHA:100986
HP:0006827	Atrophy of the spinal cord	22948	CCT5	OMIM:256840
HP:0006827	Atrophy of the spinal cord	80208	SPG11	ORPHA:2822
HP:0006827	Atrophy of the spinal cord	22880	MORC2	ORPHA:466768
HP:0006827	Atrophy of the spinal cord	25974	MMACHC	ORPHA:79282
HP:0006827	Atrophy of the spinal cord	5832	ALDH18A1	ORPHA:447757
HP:0006827	Atrophy of the spinal cord	4001	LMNB1	ORPHA:99027
HP:0006827	Atrophy of the spinal cord	2670	GFAP	ORPHA:363722
HP:0006827	Atrophy of the spinal cord	4747	NEFL	ORPHA:101085
HP:0006827	Atrophy of the spinal cord	5297	PI4KA	OMIM:619621
HP:0006827	Atrophy of the spinal cord	2395	FXN	ORPHA:95
HP:0006829	Severe muscular hypotonia	9131	AIFM1	ORPHA:238329
HP:0006829	Severe muscular hypotonia	4534	MTM1	ORPHA:596
HP:0006829	Severe muscular hypotonia	4534	MTM1	OMIM:310400
HP:0006829	Severe muscular hypotonia	2639	GCDH	ORPHA:25
HP:0006829	Severe muscular hypotonia	4359	MPZ	OMIM:618184
HP:0006829	Severe muscular hypotonia	199857	ALG14	OMIM:619036
HP:0006829	Severe muscular hypotonia	23312	DMXL2	OMIM:618663
HP:0006829	Severe muscular hypotonia	56203	LMOD3	OMIM:616165
HP:0006829	Severe muscular hypotonia	56203	LMOD3	ORPHA:171430
HP:0006829	Severe muscular hypotonia	92335	STRADA	ORPHA:500533
HP:0006829	Severe muscular hypotonia	3704	ITPA	OMIM:616647
HP:0006829	Severe muscular hypotonia	2643	GCH1	OMIM:233910
HP:0006829	Severe muscular hypotonia	55624	POMGNT1	OMIM:253280
HP:0006829	Severe muscular hypotonia	22845	DOLK	ORPHA:91131
HP:0006829	Severe muscular hypotonia	136647	MPLKIP	OMIM:234050
HP:0006829	Severe muscular hypotonia	23556	PIGN	ORPHA:280633
HP:0006829	Severe muscular hypotonia	8818	DPM2	OMIM:615042
HP:0006829	Severe muscular hypotonia	58	ACTA1	ORPHA:171433
HP:0006829	Severe muscular hypotonia	58	ACTA1	ORPHA:171430
HP:0006829	Severe muscular hypotonia	4703	NEB	ORPHA:171433
HP:0006829	Severe muscular hypotonia	4703	NEB	ORPHA:171430
HP:0006829	Severe muscular hypotonia	10324	KLHL41	ORPHA:171433
HP:0006829	Severe muscular hypotonia	10324	KLHL41	ORPHA:171430
HP:0006829	Severe muscular hypotonia	7170	TPM3	ORPHA:171433
HP:0006829	Severe muscular hypotonia	11041	B4GAT1	OMIM:615287
HP:0006829	Severe muscular hypotonia	9326	ZNHIT3	OMIM:260565
HP:0006829	Severe muscular hypotonia	9326	ZNHIT3	ORPHA:2836
HP:0006829	Severe muscular hypotonia	131377	KLHL40	ORPHA:171430
HP:0006829	Severe muscular hypotonia	4726	NDUFS6	OMIM:618232
HP:0006829	Severe muscular hypotonia	55670	PEX26	OMIM:614872
HP:0006829	Severe muscular hypotonia	55670	PEX26	ORPHA:912
HP:0006829	Severe muscular hypotonia	51244	CCDC174	OMIM:616816
HP:0006829	Severe muscular hypotonia	29954	POMT2	OMIM:236670
HP:0006829	Severe muscular hypotonia	29954	POMT2	OMIM:613150
HP:0006829	Severe muscular hypotonia	9215	LARGE1	OMIM:236670
HP:0006829	Severe muscular hypotonia	9215	LARGE1	OMIM:613154
HP:0006829	Severe muscular hypotonia	79147	FKRP	OMIM:236670
HP:0006829	Severe muscular hypotonia	79147	FKRP	OMIM:613153
HP:0006829	Severe muscular hypotonia	10585	POMT1	OMIM:236670
HP:0006829	Severe muscular hypotonia	2218	FKTN	OMIM:236670
HP:0006829	Severe muscular hypotonia	6843	VAMP1	OMIM:618323
HP:0006829	Severe muscular hypotonia	55033	FKBP14	ORPHA:300179
HP:0006829	Severe muscular hypotonia	200205	IBA57	OMIM:615330
HP:0006829	Severe muscular hypotonia	5194	PEX13	OMIM:614883
HP:0006829	Severe muscular hypotonia	5194	PEX13	ORPHA:912
HP:0006829	Severe muscular hypotonia	547	KIF1A	ORPHA:2836
HP:0006829	Severe muscular hypotonia	27315	PGAP2	OMIM:614207
HP:0006829	Severe muscular hypotonia	55005	RMND1	OMIM:614922
HP:0006829	Severe muscular hypotonia	93627	TBCK	OMIM:616900
HP:0006829	Severe muscular hypotonia	93627	TBCK	ORPHA:488632
HP:0006829	Severe muscular hypotonia	51008	ASCC1	OMIM:616867
HP:0006829	Severe muscular hypotonia	9325	TRIP4	OMIM:616866
HP:0006829	Severe muscular hypotonia	57465	TBC1D24	OMIM:615338
HP:0006829	Severe muscular hypotonia	64116	SLC39A8	ORPHA:468699
HP:0006829	Severe muscular hypotonia	57731	SPTBN4	OMIM:617519
HP:0006829	Severe muscular hypotonia	8604	SLC25A12	OMIM:612949
HP:0006829	Severe muscular hypotonia	23299	BICD2	OMIM:618291
HP:0006829	Severe muscular hypotonia	148789	B3GALNT2	OMIM:615181
HP:0006829	Severe muscular hypotonia	652	BMP4	OMIM:607932
HP:0006829	Severe muscular hypotonia	84706	GPT2	ORPHA:477673
HP:0006829	Severe muscular hypotonia	6576	SLC25A1	OMIM:615182
HP:0006829	Severe muscular hypotonia	7317	UBA1	OMIM:301830
HP:0006829	Severe muscular hypotonia	2902	GRIN1	OMIM:614254
HP:0006829	Severe muscular hypotonia	79587	CARS2	OMIM:616672
HP:0006829	Severe muscular hypotonia	5813	PURA	ORPHA:438216
HP:0006829	Severe muscular hypotonia	5813	PURA	ORPHA:314655
HP:0006829	Severe muscular hypotonia	87178	PNPT1	OMIM:614932
HP:0006829	Severe muscular hypotonia	54872	PIGG	OMIM:616917
HP:0006829	Severe muscular hypotonia	6638	SNRPN	ORPHA:177907
HP:0006829	Severe muscular hypotonia	5824	PEX19	ORPHA:912
HP:0006829	Severe muscular hypotonia	5828	PEX2	ORPHA:912
HP:0006829	Severe muscular hypotonia	8504	PEX3	ORPHA:912
HP:0006829	Severe muscular hypotonia	8799	PEX11B	ORPHA:912
HP:0006829	Severe muscular hypotonia	9409	PEX16	ORPHA:912
HP:0006829	Severe muscular hypotonia	5190	PEX6	ORPHA:912
HP:0006829	Severe muscular hypotonia	5830	PEX5	ORPHA:912
HP:0006829	Severe muscular hypotonia	5189	PEX1	ORPHA:912
HP:0006829	Severe muscular hypotonia	5193	PEX12	ORPHA:912
HP:0006829	Severe muscular hypotonia	5195	PEX14	ORPHA:912
HP:0006829	Severe muscular hypotonia	5192	PEX10	ORPHA:912
HP:0006829	Severe muscular hypotonia	389827	MYMK	OMIM:254940
HP:0001319	Neonatal hypotonia	25970	SH2B1	ORPHA:261222
HP:0001319	Neonatal hypotonia	6535	SLC6A8	OMIM:300352
HP:0001319	Neonatal hypotonia	4099	MAG	OMIM:616680
HP:0001319	Neonatal hypotonia	1144	CHRND	OMIM:616322
HP:0001319	Neonatal hypotonia	57128	LYRM4	OMIM:615595
HP:0001319	Neonatal hypotonia	5913	RAPSN	OMIM:616326
HP:0001319	Neonatal hypotonia	4593	MUSK	OMIM:616325
HP:0001319	Neonatal hypotonia	1145	CHRNE	OMIM:616324
HP:0001319	Neonatal hypotonia	3008	H1-4	OMIM:617537
HP:0001319	Neonatal hypotonia	1134	CHRNA1	OMIM:608930
HP:0001319	Neonatal hypotonia	5457	POU4F1	ORPHA:314647
HP:0001319	Neonatal hypotonia	23261	CAMTA1	ORPHA:314647
HP:0001319	Neonatal hypotonia	23261	CAMTA1	OMIM:614756
HP:0001319	Neonatal hypotonia	617	BCS1L	OMIM:603358
HP:0001319	Neonatal hypotonia	58	ACTA1	ORPHA:171436
HP:0001319	Neonatal hypotonia	58	ACTA1	OMIM:161800
HP:0001319	Neonatal hypotonia	58	ACTA1	ORPHA:97240
HP:0001319	Neonatal hypotonia	7169	TPM2	ORPHA:171436
HP:0001319	Neonatal hypotonia	4703	NEB	ORPHA:171436
HP:0001319	Neonatal hypotonia	4703	NEB	OMIM:256030
HP:0001319	Neonatal hypotonia	10324	KLHL41	ORPHA:171436
HP:0001319	Neonatal hypotonia	56203	LMOD3	ORPHA:171436
HP:0001319	Neonatal hypotonia	1073	CFL2	ORPHA:171436
HP:0001319	Neonatal hypotonia	170302	ARX	OMIM:300004
HP:0001319	Neonatal hypotonia	84466	MEGF10	OMIM:614399
HP:0001319	Neonatal hypotonia	80055	PGAP1	OMIM:615802
HP:0001319	Neonatal hypotonia	84197	POMK	OMIM:615249
HP:0001319	Neonatal hypotonia	84197	POMK	OMIM:616094
HP:0001319	Neonatal hypotonia	23431	AP4E1	OMIM:613744
HP:0001319	Neonatal hypotonia	3508	IGHMBP2	OMIM:604320
HP:0001319	Neonatal hypotonia	79158	GNPTAB	OMIM:252500
HP:0001319	Neonatal hypotonia	3908	LAMA2	ORPHA:258
HP:0001319	Neonatal hypotonia	79147	FKRP	OMIM:606612
HP:0001319	Neonatal hypotonia	79147	FKRP	OMIM:236670
HP:0001319	Neonatal hypotonia	79147	FKRP	ORPHA:370980
HP:0001319	Neonatal hypotonia	64324	NSD1	OMIM:117550
HP:0001319	Neonatal hypotonia	284058	KANSL1	ORPHA:363958
HP:0001319	Neonatal hypotonia	284058	KANSL1	ORPHA:363965
HP:0001319	Neonatal hypotonia	274	BIN1	OMIM:255200
HP:0001319	Neonatal hypotonia	1272	CNTN1	OMIM:612540
HP:0001319	Neonatal hypotonia	6261	RYR1	OMIM:255320
HP:0001319	Neonatal hypotonia	6261	RYR1	OMIM:117000
HP:0001319	Neonatal hypotonia	6261	RYR1	ORPHA:178145
HP:0001319	Neonatal hypotonia	7994	KAT6A	ORPHA:457193
HP:0001319	Neonatal hypotonia	7994	KAT6A	OMIM:616268
HP:0001319	Neonatal hypotonia	157680	VPS13B	OMIM:216550
HP:0001319	Neonatal hypotonia	51651	PTRH2	ORPHA:456312
HP:0001319	Neonatal hypotonia	1303	COL12A1	OMIM:616470
HP:0001319	Neonatal hypotonia	1303	COL12A1	ORPHA:536516
HP:0001319	Neonatal hypotonia	132158	GLYCTK	OMIM:220120
HP:0001319	Neonatal hypotonia	7170	TPM3	OMIM:255310
HP:0001319	Neonatal hypotonia	93627	TBCK	ORPHA:488632
HP:0001319	Neonatal hypotonia	84300	UQCC2	OMIM:615824
HP:0001319	Neonatal hypotonia	51021	MRPS16	OMIM:610498
HP:0001319	Neonatal hypotonia	10716	TBR1	ORPHA:1617
HP:0001319	Neonatal hypotonia	4534	MTM1	ORPHA:596
HP:0001319	Neonatal hypotonia	4534	MTM1	OMIM:310400
HP:0001319	Neonatal hypotonia	4953	ODC1	OMIM:619075
HP:0001319	Neonatal hypotonia	4953	ODC1	ORPHA:544488
HP:0001319	Neonatal hypotonia	10717	AP4B1	OMIM:614066
HP:0001319	Neonatal hypotonia	2627	GATA6	ORPHA:2255
HP:0001319	Neonatal hypotonia	5828	PEX2	OMIM:614867
HP:0001319	Neonatal hypotonia	79751	SLC25A22	OMIM:609304
HP:0001319	Neonatal hypotonia	4784	NFIX	ORPHA:420179
HP:0001319	Neonatal hypotonia	375748	ERCC6L2	OMIM:615715
HP:0001319	Neonatal hypotonia	54499	TMCO1	OMIM:213980
HP:0001319	Neonatal hypotonia	4952	OCRL	OMIM:309000
HP:0001319	Neonatal hypotonia	4952	OCRL	ORPHA:534
HP:0001319	Neonatal hypotonia	55719	SLF2	OMIM:620184
HP:0001319	Neonatal hypotonia	285362	SUMF1	OMIM:272200
HP:0001319	Neonatal hypotonia	285362	SUMF1	ORPHA:585
HP:0001319	Neonatal hypotonia	6329	SCN4A	ORPHA:99734
HP:0001319	Neonatal hypotonia	6329	SCN4A	OMIM:168300
HP:0001319	Neonatal hypotonia	6329	SCN4A	ORPHA:684
HP:0001319	Neonatal hypotonia	1737	DLAT	OMIM:245348
HP:0001319	Neonatal hypotonia	2316	FLNA	OMIM:300321
HP:0001319	Neonatal hypotonia	8050	PDHX	OMIM:245349
HP:0001319	Neonatal hypotonia	440138	ALG11	OMIM:613661
HP:0001319	Neonatal hypotonia	2555	GABRA2	OMIM:618557
HP:0001319	Neonatal hypotonia	57492	ARID1B	ORPHA:251056
HP:0001319	Neonatal hypotonia	51244	CCDC174	OMIM:616816
HP:0001319	Neonatal hypotonia	11107	PRDM5	ORPHA:90354
HP:0001319	Neonatal hypotonia	84627	ZNF469	ORPHA:90354
HP:0001319	Neonatal hypotonia	51322	WAC	ORPHA:284169
HP:0001319	Neonatal hypotonia	51322	WAC	ORPHA:466950
HP:0001319	Neonatal hypotonia	55275	VPS53	OMIM:615851
HP:0001319	Neonatal hypotonia	54916	TMEM260	OMIM:617478
HP:0001319	Neonatal hypotonia	5048	PAFAH1B1	ORPHA:95232
HP:0001319	Neonatal hypotonia	4556	MT-TE	ORPHA:2596
HP:0001319	Neonatal hypotonia	6314	ATXN7	ORPHA:94147
HP:0001319	Neonatal hypotonia	6567	SLC16A2	ORPHA:59
HP:0001319	Neonatal hypotonia	6567	SLC16A2	OMIM:300523
HP:0001319	Neonatal hypotonia	55023	PHIP	ORPHA:589905
HP:0001319	Neonatal hypotonia	6927	HNF1A	ORPHA:324575
HP:0001319	Neonatal hypotonia	81570	CLPB	OMIM:616271
HP:0001319	Neonatal hypotonia	8573	CASK	OMIM:300422
HP:0001319	Neonatal hypotonia	91137	SLC25A46	OMIM:619303
HP:0001319	Neonatal hypotonia	51117	COQ4	OMIM:616276
HP:0001319	Neonatal hypotonia	667	DST	OMIM:614653
HP:0001319	Neonatal hypotonia	57107	PDSS2	OMIM:614652
HP:0001319	Neonatal hypotonia	5813	PURA	OMIM:616158
HP:0001319	Neonatal hypotonia	5813	PURA	ORPHA:314655
HP:0001319	Neonatal hypotonia	6878	TAF6	OMIM:617126
HP:0001319	Neonatal hypotonia	6857	SYT1	OMIM:618218
HP:0001319	Neonatal hypotonia	57459	GATAD2B	OMIM:615074
HP:0001319	Neonatal hypotonia	6134	RPL10	OMIM:300998
HP:0001319	Neonatal hypotonia	1291	COL6A1	OMIM:254090
HP:0001319	Neonatal hypotonia	1291	COL6A1	OMIM:158810
HP:0001319	Neonatal hypotonia	1292	COL6A2	OMIM:254090
HP:0001319	Neonatal hypotonia	1292	COL6A2	OMIM:158810
HP:0001319	Neonatal hypotonia	1293	COL6A3	OMIM:254090
HP:0001319	Neonatal hypotonia	1293	COL6A3	OMIM:158810
HP:0001319	Neonatal hypotonia	2290	FOXG1	OMIM:613454
HP:0001319	Neonatal hypotonia	79912	PYROXD1	OMIM:617258
HP:0001319	Neonatal hypotonia	8924	HERC2	OMIM:615516
HP:0001319	Neonatal hypotonia	8924	HERC2	OMIM:176270
HP:0001319	Neonatal hypotonia	51807	TUBA8	ORPHA:250972
HP:0001319	Neonatal hypotonia	203547	VMA21	OMIM:310440
HP:0001319	Neonatal hypotonia	85358	SHANK3	OMIM:606232
HP:0001319	Neonatal hypotonia	85358	SHANK3	ORPHA:48652
HP:0001319	Neonatal hypotonia	10102	TSFM	OMIM:610505
HP:0001319	Neonatal hypotonia	7681	MKRN3	OMIM:176270
HP:0001319	Neonatal hypotonia	3653	IPW	OMIM:176270
HP:0001319	Neonatal hypotonia	54551	MAGEL2	OMIM:176270
HP:0001319	Neonatal hypotonia	54551	MAGEL2	ORPHA:398069
HP:0001319	Neonatal hypotonia	54551	MAGEL2	ORPHA:177910
HP:0001319	Neonatal hypotonia	54551	MAGEL2	OMIM:615547
HP:0001319	Neonatal hypotonia	791114	PWRN1	OMIM:176270
HP:0001319	Neonatal hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001319	Neonatal hypotonia	145624	PWAR1	OMIM:176270
HP:0001319	Neonatal hypotonia	23742	NPAP1	OMIM:176270
HP:0001319	Neonatal hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001319	Neonatal hypotonia	5575	PRKAR1B	OMIM:619680
HP:0001319	Neonatal hypotonia	6792	CDKL5	ORPHA:3095
HP:0001319	Neonatal hypotonia	22854	NTNG1	ORPHA:3095
HP:0001319	Neonatal hypotonia	9568	GABBR2	ORPHA:3095
HP:0001319	Neonatal hypotonia	4204	MECP2	ORPHA:3095
HP:0001319	Neonatal hypotonia	8243	SMC1A	ORPHA:3095
HP:0001319	Neonatal hypotonia	7707	ZNF148	OMIM:617260
HP:0001319	Neonatal hypotonia	388015	RTL1	ORPHA:254525
HP:0001319	Neonatal hypotonia	8788	DLK1	ORPHA:254525
HP:0001319	Neonatal hypotonia	55384	MEG3	ORPHA:254525
HP:0001319	Neonatal hypotonia	6651	SON	OMIM:617140
HP:0001319	Neonatal hypotonia	63895	PIEZO2	OMIM:617146
HP:0001319	Neonatal hypotonia	6492	SIM1	ORPHA:171829
HP:0001319	Neonatal hypotonia	6492	SIM1	ORPHA:398079
HP:0001319	Neonatal hypotonia	55033	FKBP14	OMIM:614557
HP:0001319	Neonatal hypotonia	1959	EGR2	OMIM:605253
HP:0001319	Neonatal hypotonia	9179	AP4M1	OMIM:612936
HP:0001319	Neonatal hypotonia	29954	POMT2	OMIM:236670
HP:0001319	Neonatal hypotonia	9215	LARGE1	OMIM:236670
HP:0001319	Neonatal hypotonia	10585	POMT1	OMIM:236670
HP:0001319	Neonatal hypotonia	10585	POMT1	ORPHA:370980
HP:0001319	Neonatal hypotonia	10585	POMT1	ORPHA:86812
HP:0001319	Neonatal hypotonia	2218	FKTN	OMIM:236670
HP:0001319	Neonatal hypotonia	2218	FKTN	ORPHA:370980
HP:0001319	Neonatal hypotonia	5934	RBL2	OMIM:619690
HP:0001319	Neonatal hypotonia	388753	COA6	OMIM:616501
HP:0001319	Neonatal hypotonia	5351	PLOD1	ORPHA:1900
HP:0001319	Neonatal hypotonia	54704	PDP1	ORPHA:79246
HP:0001319	Neonatal hypotonia	6638	SNRPN	ORPHA:177910
HP:0001319	Neonatal hypotonia	6638	SNRPN	ORPHA:177907
HP:0001319	Neonatal hypotonia	4692	NDN	ORPHA:177910
HP:0001319	Neonatal hypotonia	3172	HNF4A	ORPHA:263455
HP:0001319	Neonatal hypotonia	1760	DMPK	ORPHA:589821
HP:0001319	Neonatal hypotonia	5631	PRPS1	OMIM:301835
HP:0001319	Neonatal hypotonia	51305	KCNK9	ORPHA:166108
HP:0001319	Neonatal hypotonia	5144	PDE4D	ORPHA:439822
HP:0001319	Neonatal hypotonia	729920	CRPPA	ORPHA:370980
HP:0001319	Neonatal hypotonia	7874	USP7	ORPHA:500055
HP:0001319	Neonatal hypotonia	23040	MYT1L	OMIM:616521
HP:0001319	Neonatal hypotonia	8087	FXR1	OMIM:618822
HP:0001319	Neonatal hypotonia	8087	FXR1	OMIM:618823
HP:0001319	Neonatal hypotonia	259232	NALCN	ORPHA:371364
HP:0001319	Neonatal hypotonia	285175	UNC80	ORPHA:371364
HP:0001319	Neonatal hypotonia	5293	PIK3CD	ORPHA:221139
HP:0001319	Neonatal hypotonia	90417	KNSTRN	ORPHA:221139
HP:0001319	Neonatal hypotonia	8405	SPOP	OMIM:618829
HP:0001319	Neonatal hypotonia	10283	CWC27	ORPHA:166035
HP:0001319	Neonatal hypotonia	5189	PEX1	OMIM:601539
HP:0001319	Neonatal hypotonia	8567	MADD	OMIM:619004
HP:0001319	Neonatal hypotonia	8567	MADD	OMIM:619005
HP:0001319	Neonatal hypotonia	4841	NONO	OMIM:300967
HP:0001319	Neonatal hypotonia	51124	IER3IP1	OMIM:614231
HP:0001319	Neonatal hypotonia	2893	GRIA4	OMIM:617864
HP:0001319	Neonatal hypotonia	55704	CCDC88A	OMIM:617507
HP:0001319	Neonatal hypotonia	3033	HADH	ORPHA:71212
HP:0001319	Neonatal hypotonia	7284	TUFM	OMIM:610678
HP:0001319	Neonatal hypotonia	6663	SOX10	OMIM:609136
HP:0001319	Neonatal hypotonia	673	BRAF	OMIM:613707
HP:0001319	Neonatal hypotonia	51	ACOX1	OMIM:264470
HP:0001319	Neonatal hypotonia	1376	CPT2	OMIM:608836
HP:0001319	Neonatal hypotonia	126792	B3GALT6	ORPHA:536467
HP:0001319	Neonatal hypotonia	5331	PLCB3	OMIM:618961
HP:0001319	Neonatal hypotonia	340533	NEXMIF	ORPHA:85277
HP:0001319	Neonatal hypotonia	5528	PPP2R5D	ORPHA:457279
HP:0001319	Neonatal hypotonia	1315	COPB1	OMIM:619255
HP:0001319	Neonatal hypotonia	1984	EIF5A	OMIM:619376
HP:0001319	Neonatal hypotonia	10274	STAG1	OMIM:617635
HP:0001319	Neonatal hypotonia	133686	NADK2	ORPHA:431361
HP:0001319	Neonatal hypotonia	131118	DNAJC19	ORPHA:66634
HP:0001319	Neonatal hypotonia	2806	GOT2	OMIM:618721
HP:0001319	Neonatal hypotonia	3295	HSD17B4	OMIM:261515
HP:0001319	Neonatal hypotonia	57731	SPTBN4	OMIM:617519
HP:0001319	Neonatal hypotonia	124454	EARS2	OMIM:614924
HP:0001319	Neonatal hypotonia	7138	TNNT1	ORPHA:98902
HP:0001319	Neonatal hypotonia	6389	SDHA	OMIM:252011
HP:0001319	Neonatal hypotonia	29928	TIMM22	OMIM:618851
HP:0001319	Neonatal hypotonia	51733	UPB1	OMIM:613161
HP:0001319	Neonatal hypotonia	7043	TGFB3	OMIM:615582
HP:0001319	Neonatal hypotonia	57728	WDR19	OMIM:614378
HP:0001319	Neonatal hypotonia	1140	CHRNB1	OMIM:616314
HP:0001319	Neonatal hypotonia	1140	CHRNB1	OMIM:616313
HP:0001319	Neonatal hypotonia	2260	FGFR1	OMIM:615465
HP:0001319	Neonatal hypotonia	27445	PCLO	OMIM:608027
HP:0001319	Neonatal hypotonia	9990	SLC12A6	OMIM:218000
HP:0001319	Neonatal hypotonia	8802	SUCLG1	OMIM:245400
HP:0001319	Neonatal hypotonia	25839	COG4	ORPHA:263501
HP:0001319	Neonatal hypotonia	4524	MTHFR	ORPHA:395
HP:0001319	Neonatal hypotonia	23394	ADNP	ORPHA:404448
HP:0001319	Neonatal hypotonia	9896	FIG4	ORPHA:3472
HP:0001319	Neonatal hypotonia	55697	VAC14	ORPHA:3472
HP:0001319	Neonatal hypotonia	1917	EEF1A2	OMIM:616393
HP:0001319	Neonatal hypotonia	5718	PSMD12	ORPHA:529962
HP:0001319	Neonatal hypotonia	2186	BPTF	ORPHA:529962
HP:0001319	Neonatal hypotonia	4576	MT-TT	ORPHA:254857
HP:0001319	Neonatal hypotonia	5192	PEX10	OMIM:614870
HP:0001319	Neonatal hypotonia	5190	PEX6	OMIM:614862
HP:0001319	Neonatal hypotonia	57465	TBC1D24	ORPHA:352596
HP:0001319	Neonatal hypotonia	8504	PEX3	OMIM:614882
HP:0001319	Neonatal hypotonia	9968	MED12	ORPHA:93932
HP:0001319	Neonatal hypotonia	55670	PEX26	OMIM:614872
HP:0001319	Neonatal hypotonia	54332	GDAP1	ORPHA:99948
HP:0001319	Neonatal hypotonia	9409	PEX16	OMIM:614876
HP:0001319	Neonatal hypotonia	5193	PEX12	OMIM:614859
HP:0001319	Neonatal hypotonia	492	ATP2B3	ORPHA:314978
HP:0001319	Neonatal hypotonia	23345	SYNE1	ORPHA:319332
HP:0003134	Abnormality of peripheral nerve conduction	79784	MYH14	ORPHA:397744
HP:0003134	Abnormality of peripheral nerve conduction	9131	AIFM1	ORPHA:101078
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309256
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309271
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309263
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	OMIM:250100
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309256
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	OMIM:249900
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309271
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:206436
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309263
HP:0003134	Abnormality of peripheral nerve conduction	1593	CYP27A1	ORPHA:909
HP:0003134	Abnormality of peripheral nerve conduction	5190	PEX6	OMIM:614863
HP:0003134	Abnormality of peripheral nerve conduction	9782	MATR3	OMIM:606070
HP:0003134	Abnormality of peripheral nerve conduction	9782	MATR3	ORPHA:600
HP:0003134	Abnormality of peripheral nerve conduction	7167	TPI1	ORPHA:868
HP:0003134	Abnormality of peripheral nerve conduction	10516	FBLN5	OMIM:608895
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	ORPHA:206443
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	ORPHA:206436
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	OMIM:245200
HP:0003134	Abnormality of peripheral nerve conduction	6305	SBF1	OMIM:615284
HP:0003134	Abnormality of peripheral nerve conduction	23114	NFASC	OMIM:618356
HP:0003134	Abnormality of peripheral nerve conduction	25814	ATXN10	OMIM:603516
HP:0003134	Abnormality of peripheral nerve conduction	1785	DNM2	OMIM:615368
HP:0003134	Abnormality of peripheral nerve conduction	56947	MFF	ORPHA:485421
HP:0003134	Abnormality of peripheral nerve conduction	5165	PDK3	ORPHA:352675
HP:0003134	Abnormality of peripheral nerve conduction	1130	LYST	OMIM:214500
HP:0003134	Abnormality of peripheral nerve conduction	1130	LYST	ORPHA:167
HP:0003134	Abnormality of peripheral nerve conduction	4758	NEU1	ORPHA:812
HP:0003134	Abnormality of peripheral nerve conduction	3508	IGHMBP2	OMIM:604320
HP:0003134	Abnormality of peripheral nerve conduction	540	ATP7B	OMIM:277900
HP:0003134	Abnormality of peripheral nerve conduction	6663	SOX10	OMIM:609136
HP:0003134	Abnormality of peripheral nerve conduction	10166	SLC25A15	OMIM:238970
HP:0003134	Abnormality of peripheral nerve conduction	87178	PNPT1	ORPHA:319514
HP:0003134	Abnormality of peripheral nerve conduction	87178	PNPT1	OMIM:614932
HP:0003134	Abnormality of peripheral nerve conduction	219285	SAMD9L	OMIM:159550
HP:0003134	Abnormality of peripheral nerve conduction	84340	GFM2	ORPHA:565624
HP:0003134	Abnormality of peripheral nerve conduction	3295	HSD17B4	OMIM:261515
HP:0003134	Abnormality of peripheral nerve conduction	9639	ARHGEF10	OMIM:608236
HP:0003134	Abnormality of peripheral nerve conduction	2200	FBN1	ORPHA:969
HP:0003134	Abnormality of peripheral nerve conduction	4054	LTBP3	ORPHA:969
HP:0003134	Abnormality of peripheral nerve conduction	26090	ABHD12	OMIM:612674
HP:0003134	Abnormality of peripheral nerve conduction	2071	ERCC3	OMIM:610651
HP:0003134	Abnormality of peripheral nerve conduction	3908	LAMA2	OMIM:618138
HP:0003134	Abnormality of peripheral nerve conduction	8803	SUCLA2	ORPHA:1933
HP:0003134	Abnormality of peripheral nerve conduction	285362	SUMF1	ORPHA:585
HP:0003134	Abnormality of peripheral nerve conduction	4914	NTRK1	ORPHA:642
HP:0003134	Abnormality of peripheral nerve conduction	5354	PLP1	ORPHA:280234
HP:0003134	Abnormality of peripheral nerve conduction	10342	TFG	ORPHA:431329
HP:0003134	Abnormality of peripheral nerve conduction	51324	SPG21	ORPHA:101001
HP:0003134	Abnormality of peripheral nerve conduction	9150	CTDP1	ORPHA:48431
HP:0003134	Abnormality of peripheral nerve conduction	65250	CPLANE1	ORPHA:65684
HP:0003134	Abnormality of peripheral nerve conduction	57562	CEP126	ORPHA:65684
HP:0003134	Abnormality of peripheral nerve conduction	9342	SNAP29	ORPHA:66631
HP:0003134	Abnormality of peripheral nerve conduction	1161	ERCC8	ORPHA:90324
HP:0003134	Abnormality of peripheral nerve conduction	1161	ERCC8	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	2074	ERCC6	ORPHA:90324
HP:0003134	Abnormality of peripheral nerve conduction	2074	ERCC6	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	8398	PLA2G6	ORPHA:35069
HP:0003134	Abnormality of peripheral nerve conduction	100134444	KCNJ18	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	2556	GABRA3	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	779	CACNA1S	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	50846	DHH	ORPHA:168563
HP:0003134	Abnormality of peripheral nerve conduction	2072	ERCC4	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	OMIM:162500
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	OMIM:118300
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	OMIM:118220
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	OMIM:180800
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	ORPHA:640
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	ORPHA:3115
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	ORPHA:101081
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	OMIM:618184
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	OMIM:180800
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	OMIM:118200
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	ORPHA:3115
HP:0003134	Abnormality of peripheral nerve conduction	4000	LMNA	OMIM:605588
HP:0003134	Abnormality of peripheral nerve conduction	4000	LMNA	ORPHA:98856
HP:0003134	Abnormality of peripheral nerve conduction	11284	PNKP	OMIM:605589
HP:0003134	Abnormality of peripheral nerve conduction	81857	MED25	OMIM:605589
HP:0003134	Abnormality of peripheral nerve conduction	7384	UQCRC1	OMIM:619279
HP:0003134	Abnormality of peripheral nerve conduction	8506	CNTNAP1	OMIM:618186
HP:0003134	Abnormality of peripheral nerve conduction	22948	CCT5	ORPHA:139578
HP:0003134	Abnormality of peripheral nerve conduction	22948	CCT5	OMIM:256840
HP:0003134	Abnormality of peripheral nerve conduction	22880	MORC2	OMIM:616688
HP:0003134	Abnormality of peripheral nerve conduction	7415	VCP	OMIM:616687
HP:0003134	Abnormality of peripheral nerve conduction	9927	MFN2	OMIM:609260
HP:0003134	Abnormality of peripheral nerve conduction	9927	MFN2	OMIM:601152
HP:0003134	Abnormality of peripheral nerve conduction	50717	DCAF8	OMIM:610100
HP:0003134	Abnormality of peripheral nerve conduction	4747	NEFL	OMIM:607684
HP:0003134	Abnormality of peripheral nerve conduction	4747	NEFL	OMIM:607734
HP:0003134	Abnormality of peripheral nerve conduction	3315	HSPB1	OMIM:606595
HP:0003134	Abnormality of peripheral nerve conduction	9990	SLC12A6	OMIM:620068
HP:0003134	Abnormality of peripheral nerve conduction	9990	SLC12A6	OMIM:218000
HP:0003134	Abnormality of peripheral nerve conduction	8898	MTMR2	OMIM:601382
HP:0003134	Abnormality of peripheral nerve conduction	7879	RAB7A	OMIM:600882
HP:0003134	Abnormality of peripheral nerve conduction	57165	GJC2	OMIM:608804
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:607678
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:605253
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	OMIM:607831
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	OMIM:607706
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	OMIM:214400
HP:0003134	Abnormality of peripheral nerve conduction	56704	JPH1	OMIM:607831
HP:0003134	Abnormality of peripheral nerve conduction	23095	KIF1B	OMIM:118210
HP:0003134	Abnormality of peripheral nerve conduction	6652	SORD	OMIM:618912
HP:0003134	Abnormality of peripheral nerve conduction	65055	REEP1	OMIM:614751
HP:0003134	Abnormality of peripheral nerve conduction	90678	LRSAM1	OMIM:614436
HP:0003134	Abnormality of peripheral nerve conduction	3710	ITPR3	OMIM:620111
HP:0003134	Abnormality of peripheral nerve conduction	81846	SBF2	OMIM:604563
HP:0003134	Abnormality of peripheral nerve conduction	8565	YARS1	OMIM:608323
HP:0003134	Abnormality of peripheral nerve conduction	9516	LITAF	OMIM:601098
HP:0003134	Abnormality of peripheral nerve conduction	26278	SACS	OMIM:270550
HP:0003134	Abnormality of peripheral nerve conduction	100996717	NOTCH2NLC	OMIM:603472
HP:0003134	Abnormality of peripheral nerve conduction	5428	POLG	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	1890	TYMP	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	3980	LIG3	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	50484	RRM2B	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	10558	SPTLC1	OMIM:162400
HP:0003134	Abnormality of peripheral nerve conduction	10280	SIGMAR1	OMIM:605726
HP:0003134	Abnormality of peripheral nerve conduction	23250	ATP11A	OMIM:619851
HP:0003134	Abnormality of peripheral nerve conduction	23321	TRIM2	OMIM:615490
HP:0003134	Abnormality of peripheral nerve conduction	57449	PLEKHG5	OMIM:615376
HP:0003134	Abnormality of peripheral nerve conduction	81545	FBXO38	OMIM:615575
HP:0003134	Abnormality of peripheral nerve conduction	5631	PRPS1	ORPHA:1187
HP:0003134	Abnormality of peripheral nerve conduction	259232	NALCN	OMIM:615419
HP:0003134	Abnormality of peripheral nerve conduction	26580	BSCL2	OMIM:270685
HP:0003134	Abnormality of peripheral nerve conduction	3098	HK1	ORPHA:99953
HP:0003134	Abnormality of peripheral nerve conduction	3098	HK1	OMIM:605285
HP:0003134	Abnormality of peripheral nerve conduction	79628	SH3TC2	OMIM:601596
HP:0003134	Abnormality of peripheral nerve conduction	79628	SH3TC2	ORPHA:99949
HP:0003134	Abnormality of peripheral nerve conduction	10397	NDRG1	ORPHA:99950
HP:0003134	Abnormality of peripheral nerve conduction	5611	DNAJC3	OMIM:616192
HP:0003134	Abnormality of peripheral nerve conduction	51651	PTRH2	ORPHA:456312
HP:0003134	Abnormality of peripheral nerve conduction	84842	HPDL	OMIM:619026
HP:0003134	Abnormality of peripheral nerve conduction	2705	GJB1	OMIM:302800
HP:0003134	Abnormality of peripheral nerve conduction	9517	SPTLC2	OMIM:613640
HP:0003134	Abnormality of peripheral nerve conduction	57716	PRX	OMIM:614895
HP:0003134	Abnormality of peripheral nerve conduction	57716	PRX	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	16	AARS1	OMIM:613287
HP:0003134	Abnormality of peripheral nerve conduction	128637	TBC1D20	OMIM:615663
HP:0003134	Abnormality of peripheral nerve conduction	55775	TDP1	OMIM:607250
HP:0003134	Abnormality of peripheral nerve conduction	84668	HYCC1	OMIM:610532
HP:0003134	Abnormality of peripheral nerve conduction	23064	SETX	OMIM:606002
HP:0003134	Abnormality of peripheral nerve conduction	9896	FIG4	OMIM:611228
HP:0003134	Abnormality of peripheral nerve conduction	6342	SCP2	OMIM:613724
HP:0003134	Abnormality of peripheral nerve conduction	2395	FXN	ORPHA:95
HP:0003134	Abnormality of peripheral nerve conduction	6310	ATXN1	OMIM:164400
HP:0003134	Abnormality of peripheral nerve conduction	121512	FGD4	OMIM:609311
HP:0003134	Abnormality of peripheral nerve conduction	54463	RETREG1	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	65125	WNK1	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	547	KIF1A	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	55768	NGLY1	OMIM:615273
HP:0003134	Abnormality of peripheral nerve conduction	91574	MTRFR	ORPHA:320375
HP:0003134	Abnormality of peripheral nerve conduction	10730	YME1L1	OMIM:617302
HP:0003134	Abnormality of peripheral nerve conduction	23230	VPS13A	ORPHA:2388
HP:0003134	Abnormality of peripheral nerve conduction	8449	DHX16	OMIM:618733
HP:0003134	Abnormality of peripheral nerve conduction	26353	HSPB8	OMIM:608673
HP:0003134	Abnormality of peripheral nerve conduction	25923	ATL3	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	51062	ATL1	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	59341	TRPV4	OMIM:606071
HP:0003134	Abnormality of peripheral nerve conduction	5981	RFC1	OMIM:614575
HP:0003134	Abnormality of peripheral nerve conduction	4358	MPV17	OMIM:618400
HP:0003134	Abnormality of peripheral nerve conduction	127833	SYT2	OMIM:616040
HP:0003134	Abnormality of peripheral nerve conduction	10049	DNAJB6	OMIM:603511
HP:0003134	Abnormality of peripheral nerve conduction	11117	EMILIN1	OMIM:620080
HP:0003134	Abnormality of peripheral nerve conduction	6843	VAMP1	OMIM:618323
HP:0003134	Abnormality of peripheral nerve conduction	5375	PMP2	OMIM:618279
HP:0003134	Abnormality of peripheral nerve conduction	7317	UBA1	OMIM:301830
HP:0003134	Abnormality of peripheral nerve conduction	57863	CADM3	OMIM:619519
HP:0003134	Abnormality of peripheral nerve conduction	3735	KARS1	OMIM:613641
HP:0003134	Abnormality of peripheral nerve conduction	57679	ALS2	OMIM:606353
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93474
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93473
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93476
HP:0003134	Abnormality of peripheral nerve conduction	10935	PRDX3	OMIM:619862
HP:0003134	Abnormality of peripheral nerve conduction	6335	SCN9A	OMIM:243000
HP:0003134	Abnormality of peripheral nerve conduction	10743	RAI1	OMIM:182290
HP:0003134	Abnormality of peripheral nerve conduction	84466	MEGF10	OMIM:614399
HP:0003134	Abnormality of peripheral nerve conduction	60482	SLC5A7	OMIM:158580
HP:0003134	Abnormality of peripheral nerve conduction	2617	GARS1	ORPHA:139536
HP:0003134	Abnormality of peripheral nerve conduction	8560	DEGS1	OMIM:618404
HP:0003134	Abnormality of peripheral nerve conduction	400916	CHCHD10	ORPHA:276435
HP:0003134	Abnormality of peripheral nerve conduction	28982	FLVCR1	ORPHA:88628
HP:0006834	Developmental stagnation at onset of seizures	6304	SATB1	OMIM:619229
HP:0006834	Developmental stagnation at onset of seizures	8869	ST3GAL5	OMIM:609056
HP:0002495	Impaired vibratory sensation	9897	WASHC5	OMIM:603563
HP:0002495	Impaired vibratory sensation	9897	WASHC5	ORPHA:100989
HP:0002495	Impaired vibratory sensation	23769	FLRT1	ORPHA:320406
HP:0002495	Impaired vibratory sensation	64837	KLC2	ORPHA:320406
HP:0002495	Impaired vibratory sensation	340075	ARSI	ORPHA:401815
HP:0002495	Impaired vibratory sensation	9197	SLC33A1	ORPHA:171863
HP:0002495	Impaired vibratory sensation	3094	HINT1	ORPHA:324442
HP:0002495	Impaired vibratory sensation	2643	GCH1	ORPHA:98808
HP:0002495	Impaired vibratory sensation	4929	NR4A2	ORPHA:98808
HP:0002495	Impaired vibratory sensation	3615	IMPDH2	ORPHA:98808
HP:0002495	Impaired vibratory sensation	57704	GBA2	ORPHA:352641
HP:0002495	Impaired vibratory sensation	57704	GBA2	OMIM:614409
HP:0002495	Impaired vibratory sensation	4508	MT-ATP6	ORPHA:320360
HP:0002495	Impaired vibratory sensation	55775	TDP1	ORPHA:94124
HP:0002495	Impaired vibratory sensation	11128	POLR3A	ORPHA:447896
HP:0002495	Impaired vibratory sensation	11160	ERLIN2	ORPHA:209951
HP:0002495	Impaired vibratory sensation	6687	SPG7	ORPHA:99013
HP:0002495	Impaired vibratory sensation	6687	SPG7	OMIM:607259
HP:0002495	Impaired vibratory sensation	123606	NIPA1	OMIM:600363
HP:0002495	Impaired vibratory sensation	55958	KLHL9	ORPHA:399081
HP:0002495	Impaired vibratory sensation	6253	RTN2	OMIM:604805
HP:0002495	Impaired vibratory sensation	6253	RTN2	ORPHA:100993
HP:0002495	Impaired vibratory sensation	5165	PDK3	ORPHA:352675
HP:0002495	Impaired vibratory sensation	3035	HARS1	ORPHA:488333
HP:0002495	Impaired vibratory sensation	26278	SACS	OMIM:270550
HP:0002495	Impaired vibratory sensation	80208	SPG11	OMIM:604360
HP:0002495	Impaired vibratory sensation	219285	SAMD9L	OMIM:159550
HP:0002495	Impaired vibratory sensation	28982	FLVCR1	ORPHA:88628
HP:0002495	Impaired vibratory sensation	28982	FLVCR1	OMIM:609033
HP:0002495	Impaired vibratory sensation	3329	HSPD1	OMIM:605280
HP:0002495	Impaired vibratory sensation	3329	HSPD1	ORPHA:100994
HP:0002495	Impaired vibratory sensation	55157	DARS2	ORPHA:137898
HP:0002495	Impaired vibratory sensation	5173	PDYN	OMIM:610245
HP:0002495	Impaired vibratory sensation	9997	SCO2	ORPHA:521411
HP:0002495	Impaired vibratory sensation	6683	SPAST	OMIM:182601
HP:0002495	Impaired vibratory sensation	51062	ATL1	OMIM:182600
HP:0002495	Impaired vibratory sensation	5190	PEX6	ORPHA:95433
HP:0002495	Impaired vibratory sensation	26580	BSCL2	OMIM:270685
HP:0002495	Impaired vibratory sensation	6843	VAMP1	ORPHA:251282
HP:0002495	Impaired vibratory sensation	84188	FAR1	ORPHA:447753
HP:0002495	Impaired vibratory sensation	5832	ALDH18A1	ORPHA:447753
HP:0002495	Impaired vibratory sensation	51271	UBAP1	ORPHA:100993
HP:0002495	Impaired vibratory sensation	126129	CPT1C	ORPHA:444099
HP:0002495	Impaired vibratory sensation	9420	CYP7B1	OMIM:270800
HP:0002495	Impaired vibratory sensation	57599	WDR48	ORPHA:401800
HP:0002495	Impaired vibratory sensation	3839	KPNA3	ORPHA:171612
HP:0002495	Impaired vibratory sensation	9517	SPTLC2	OMIM:613640
HP:0002495	Impaired vibratory sensation	51308	REEP2	OMIM:615625
HP:0002495	Impaired vibratory sensation	5376	PMP22	ORPHA:90658
HP:0002495	Impaired vibratory sensation	3798	KIF5A	OMIM:604187
HP:0002495	Impaired vibratory sensation	51128	SAR1B	OMIM:246700
HP:0002495	Impaired vibratory sensation	4287	ATXN3	OMIM:109150
HP:0002495	Impaired vibratory sensation	23345	SYNE1	ORPHA:88644
HP:0002495	Impaired vibratory sensation	59335	PRDM12	OMIM:616488
HP:0002495	Impaired vibratory sensation	4744	NEFH	OMIM:616924
HP:0002495	Impaired vibratory sensation	2617	GARS1	ORPHA:139536
HP:0002495	Impaired vibratory sensation	65055	REEP1	ORPHA:139536
HP:0002495	Impaired vibratory sensation	4803	NGF	OMIM:608654
HP:0002495	Impaired vibratory sensation	7345	UCHL1	OMIM:620221
HP:0002495	Impaired vibratory sensation	7345	UCHL1	OMIM:615491
HP:0002495	Impaired vibratory sensation	25894	PLEKHG4	ORPHA:98765
HP:0002495	Impaired vibratory sensation	5428	POLG	ORPHA:94125
HP:0002495	Impaired vibratory sensation	5428	POLG	ORPHA:70595
HP:0002495	Impaired vibratory sensation	56652	TWNK	ORPHA:70595
HP:0002495	Impaired vibratory sensation	724066	ATXN8	ORPHA:98760
HP:0002495	Impaired vibratory sensation	6315	ATXN8OS	ORPHA:98760
HP:0002495	Impaired vibratory sensation	81790	RNF170	OMIM:619686
HP:0002495	Impaired vibratory sensation	4669	NAGLU	OMIM:616491
HP:0002495	Impaired vibratory sensation	6311	ATXN2	OMIM:183090
HP:0002495	Impaired vibratory sensation	10528	NOP56	OMIM:614153
HP:0002495	Impaired vibratory sensation	6652	SORD	OMIM:618912
HP:0002495	Impaired vibratory sensation	5192	PEX10	OMIM:614871
HP:0002495	Impaired vibratory sensation	22880	MORC2	ORPHA:466768
HP:0002495	Impaired vibratory sensation	23400	ATP13A2	OMIM:617225
HP:0002495	Impaired vibratory sensation	2259	FGF14	OMIM:193003
HP:0002495	Impaired vibratory sensation	146227	BEAN1	ORPHA:217012
HP:0002495	Impaired vibratory sensation	10166	SLC25A15	ORPHA:415
HP:0002495	Impaired vibratory sensation	10166	SLC25A15	OMIM:238970
HP:0002495	Impaired vibratory sensation	1200	TPP1	ORPHA:284324
HP:0002495	Impaired vibratory sensation	1200	TPP1	OMIM:609270
HP:0002495	Impaired vibratory sensation	137492	VPS37A	ORPHA:319199
HP:0002495	Impaired vibratory sensation	137492	VPS37A	OMIM:614898
HP:0002495	Impaired vibratory sensation	11284	PNKP	OMIM:616267
HP:0002495	Impaired vibratory sensation	2395	FXN	OMIM:229300
HP:0002495	Impaired vibratory sensation	9692	PRORP	OMIM:619737
HP:0002495	Impaired vibratory sensation	4099	MAG	ORPHA:459056
HP:0002495	Impaired vibratory sensation	4556	MT-TE	ORPHA:2596
HP:0002495	Impaired vibratory sensation	54332	GDAP1	ORPHA:101097
HP:0002495	Impaired vibratory sensation	5351	PLOD1	ORPHA:1900
HP:0002495	Impaired vibratory sensation	3098	HK1	ORPHA:99953
HP:0002495	Impaired vibratory sensation	4547	MTTP	ORPHA:14
HP:0002495	Impaired vibratory sensation	23111	SPART	ORPHA:101000
HP:0002495	Impaired vibratory sensation	6712	SPTBN2	OMIM:600224
HP:0002495	Impaired vibratory sensation	59345	GNB4	OMIM:615185
HP:0002495	Impaired vibratory sensation	5297	PI4KA	OMIM:619621
HP:0002495	Impaired vibratory sensation	23503	ZFYVE26	ORPHA:100996
HP:0002495	Impaired vibratory sensation	2583	B4GALNT1	OMIM:609195
HP:0002495	Impaired vibratory sensation	23230	VPS13A	ORPHA:2388
HP:0002495	Impaired vibratory sensation	2065	ERBB3	OMIM:243180
HP:0002495	Impaired vibratory sensation	6342	SCP2	OMIM:613724
HP:0002495	Impaired vibratory sensation	4747	NEFL	ORPHA:101085
HP:0002495	Impaired vibratory sensation	9927	MFN2	ORPHA:99947
HP:0002495	Impaired vibratory sensation	6310	ATXN1	OMIM:164400
HP:0002495	Impaired vibratory sensation	4359	MPZ	ORPHA:3115
HP:0002495	Impaired vibratory sensation	10456	HAX1	OMIM:610738
HP:0002495	Impaired vibratory sensation	91574	MTRFR	OMIM:615035
HP:0002495	Impaired vibratory sensation	182	JAG1	OMIM:619574
HP:0002495	Impaired vibratory sensation	7515	XRCC1	OMIM:617633
HP:0002495	Impaired vibratory sensation	57863	CADM3	OMIM:619519
HP:0002495	Impaired vibratory sensation	50717	DCAF8	OMIM:610100
HP:0002495	Impaired vibratory sensation	50846	DHH	OMIM:607080
HP:0002495	Impaired vibratory sensation	3748	KCNC3	ORPHA:98768
HP:0002495	Impaired vibratory sensation	3748	KCNC3	OMIM:605259
HP:0002495	Impaired vibratory sensation	10397	NDRG1	OMIM:601455
HP:0002495	Impaired vibratory sensation	2332	FMR1	OMIM:300623
HP:0002495	Impaired vibratory sensation	476	ATP1A1	OMIM:618036
HP:0002495	Impaired vibratory sensation	5375	PMP2	OMIM:618279
HP:0002495	Impaired vibratory sensation	55703	POLR3B	OMIM:619742
HP:0002495	Impaired vibratory sensation	8566	PDXK	OMIM:618511
HP:0002495	Impaired vibratory sensation	547	KIF1A	OMIM:614213
HP:0002495	Impaired vibratory sensation	55526	DHTKD1	OMIM:615025
HP:0002495	Impaired vibratory sensation	79628	SH3TC2	ORPHA:99949
HP:0002495	Impaired vibratory sensation	54840	APTX	OMIM:208920
HP:0002495	Impaired vibratory sensation	400916	CHCHD10	ORPHA:276435
HP:0002495	Impaired vibratory sensation	90678	LRSAM1	OMIM:614436
HP:0002495	Impaired vibratory sensation	11261	CHP1	OMIM:618438
HP:0002495	Impaired vibratory sensation	23064	SETX	OMIM:606002
HP:0002495	Impaired vibratory sensation	1959	EGR2	OMIM:145900
HP:0002495	Impaired vibratory sensation	57716	PRX	OMIM:145900
HP:0002495	Impaired vibratory sensation	4001	LMNB1	ORPHA:99027
HP:0002495	Impaired vibratory sensation	3752	KCND3	ORPHA:98772
HP:0002495	Impaired vibratory sensation	215	ABCD1	OMIM:300100
HP:0002495	Impaired vibratory sensation	7504	XK	OMIM:300842
HP:0002495	Impaired vibratory sensation	8913	CACNA1G	ORPHA:458803
HP:0002495	Impaired vibratory sensation	8913	CACNA1G	OMIM:616795
HP:0002495	Impaired vibratory sensation	271	AMPD2	OMIM:615686
HP:0002495	Impaired vibratory sensation	5582	PRKCG	OMIM:605361
HP:0002495	Impaired vibratory sensation	7415	VCP	ORPHA:435387
HP:0002495	Impaired vibratory sensation	87178	PNPT1	OMIM:608703
HP:0002495	Impaired vibratory sensation	9990	SLC12A6	OMIM:620068
HP:0002495	Impaired vibratory sensation	80821	DDHD1	ORPHA:101008
HP:0006837	Congenital Horner syndrome	2783	GNB2	OMIM:619503
HP:0006837	Congenital Horner syndrome	84570	COL25A1	ORPHA:91411
HP:0006837	Congenital Horner syndrome	79776	ZFHX4	ORPHA:91411
HP:0002352	Leukoencephalopathy	3912	LAMB1	OMIM:615191
HP:0002352	Leukoencephalopathy	3155	HMGCL	ORPHA:20
HP:0002352	Leukoencephalopathy	54539	NDUFB11	ORPHA:2609
HP:0002352	Leukoencephalopathy	25915	NDUFAF3	ORPHA:2609
HP:0002352	Leukoencephalopathy	51103	NDUFAF1	ORPHA:2609
HP:0002352	Leukoencephalopathy	91942	NDUFAF2	ORPHA:2609
HP:0002352	Leukoencephalopathy	91942	NDUFAF2	OMIM:618233
HP:0002352	Leukoencephalopathy	51300	TIMMDC1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4716	NDUFB10	ORPHA:2609
HP:0002352	Leukoencephalopathy	4723	NDUFV1	ORPHA:2609
HP:0002352	Leukoencephalopathy	55572	FOXRED1	ORPHA:2609
HP:0002352	Leukoencephalopathy	284184	NDUFAF8	ORPHA:2609
HP:0002352	Leukoencephalopathy	55863	TMEM126B	ORPHA:2609
HP:0002352	Leukoencephalopathy	4535	MT-ND1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4537	MT-ND3	ORPHA:2609
HP:0002352	Leukoencephalopathy	4729	NDUFV2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4694	NDUFA1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4720	NDUFS2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4724	NDUFS4	ORPHA:2609
HP:0002352	Leukoencephalopathy	4724	NDUFS4	OMIM:252010
HP:0002352	Leukoencephalopathy	4726	NDUFS6	ORPHA:2609
HP:0002352	Leukoencephalopathy	4728	NDUFS8	ORPHA:2609
HP:0002352	Leukoencephalopathy	4722	NDUFS3	ORPHA:2609
HP:0002352	Leukoencephalopathy	79133	NDUFAF5	ORPHA:2609
HP:0002352	Leukoencephalopathy	126328	NDUFA11	ORPHA:2609
HP:0002352	Leukoencephalopathy	4709	NDUFB3	ORPHA:2609
HP:0002352	Leukoencephalopathy	80224	NUBPL	ORPHA:2609
HP:0002352	Leukoencephalopathy	80224	NUBPL	OMIM:618242
HP:0002352	Leukoencephalopathy	29078	NDUFAF4	ORPHA:2609
HP:0002352	Leukoencephalopathy	374291	NDUFS7	ORPHA:2609
HP:0002352	Leukoencephalopathy	4700	NDUFA6	ORPHA:2609
HP:0002352	Leukoencephalopathy	4536	MT-ND2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4719	NDUFS1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4719	NDUFS1	OMIM:618226
HP:0002352	Leukoencephalopathy	4715	NDUFB9	ORPHA:2609
HP:0002352	Leukoencephalopathy	65260	COA7	OMIM:618387
HP:0002352	Leukoencephalopathy	92935	MARS2	OMIM:611390
HP:0002352	Leukoencephalopathy	92935	MARS2	ORPHA:314603
HP:0002352	Leukoencephalopathy	4574	MT-TS1	OMIM:220110
HP:0002352	Leukoencephalopathy	4570	MT-TN	OMIM:220110
HP:0002352	Leukoencephalopathy	6834	SURF1	OMIM:220110
HP:0002352	Leukoencephalopathy	100996717	NOTCH2NLC	OMIM:619473
HP:0002352	Leukoencephalopathy	100996717	NOTCH2NLC	OMIM:603472
HP:0002352	Leukoencephalopathy	1890	TYMP	OMIM:603041
HP:0002352	Leukoencephalopathy	1890	TYMP	ORPHA:298
HP:0002352	Leukoencephalopathy	5428	POLG	OMIM:603041
HP:0002352	Leukoencephalopathy	5428	POLG	ORPHA:298
HP:0002352	Leukoencephalopathy	1282	COL4A1	OMIM:175780
HP:0002352	Leukoencephalopathy	22934	RPIA	OMIM:608611
HP:0002352	Leukoencephalopathy	8496	PPFIBP1	OMIM:620024
HP:0002352	Leukoencephalopathy	56945	MRPS22	OMIM:611719
HP:0002352	Leukoencephalopathy	54209	TREM2	OMIM:618193
HP:0002352	Leukoencephalopathy	9131	AIFM1	ORPHA:83629
HP:0002352	Leukoencephalopathy	26275	HIBCH	ORPHA:88639
HP:0002352	Leukoencephalopathy	11277	TREX1	OMIM:225750
HP:0002352	Leukoencephalopathy	128240	NAXE	OMIM:617186
HP:0002352	Leukoencephalopathy	1615	DARS1	OMIM:615281
HP:0002352	Leukoencephalopathy	644096	SDHAF1	OMIM:619166
HP:0002352	Leukoencephalopathy	91875	TTC5	OMIM:619244
HP:0002352	Leukoencephalopathy	4780	NFE2L2	OMIM:617744
HP:0002352	Leukoencephalopathy	10730	YME1L1	OMIM:617302
HP:0002352	Leukoencephalopathy	9373	PLAA	ORPHA:521426
HP:0002352	Leukoencephalopathy	54982	CLN6	OMIM:204300
HP:0002352	Leukoencephalopathy	57505	AARS2	OMIM:615889
HP:0002352	Leukoencephalopathy	79944	L2HGDH	OMIM:236792
HP:0002352	Leukoencephalopathy	3980	LIG3	ORPHA:298
HP:0002352	Leukoencephalopathy	50484	RRM2B	ORPHA:298
HP:0002352	Leukoencephalopathy	4854	NOTCH3	ORPHA:136
HP:0002352	Leukoencephalopathy	4854	NOTCH3	OMIM:125310
HP:0002352	Leukoencephalopathy	79709	COLGALT1	OMIM:618360
HP:0002352	Leukoencephalopathy	1436	CSF1R	OMIM:221820
HP:0002352	Leukoencephalopathy	727676	SNORD118	OMIM:614561
HP:0002352	Leukoencephalopathy	727676	SNORD118	ORPHA:542310
HP:0002352	Leukoencephalopathy	1181	CLCN2	OMIM:615651
HP:0002352	Leukoencephalopathy	9512	PMPCB	OMIM:617954
HP:0002352	Leukoencephalopathy	10352	WARS2	OMIM:617710
HP:0002352	Leukoencephalopathy	10352	WARS2	ORPHA:572798
HP:0002352	Leukoencephalopathy	25974	MMACHC	ORPHA:79282
HP:0002352	Leukoencephalopathy	124454	EARS2	OMIM:614924
HP:0002352	Leukoencephalopathy	549	AUH	OMIM:250950
HP:0002352	Leukoencephalopathy	6389	SDHA	OMIM:252011
HP:0002352	Leukoencephalopathy	79053	ALG8	ORPHA:79325
HP:0002352	Leukoencephalopathy	1967	EIF2B1	OMIM:603896
HP:0002352	Leukoencephalopathy	64802	NMNAT1	OMIM:619260
HP:0002352	Leukoencephalopathy	5654	HTRA1	OMIM:600142
HP:0002352	Leukoencephalopathy	148789	B3GALNT2	OMIM:615181
HP:0002352	Leukoencephalopathy	27247	NFU1	OMIM:605711
HP:0002352	Leukoencephalopathy	54968	TMEM70	OMIM:614052
HP:0002352	Leukoencephalopathy	3735	KARS1	OMIM:619147
HP:0002352	Leukoencephalopathy	8802	SUCLG1	ORPHA:17
HP:0002352	Leukoencephalopathy	7305	TYROBP	OMIM:221770
HP:0002352	Leukoencephalopathy	16	AARS1	OMIM:619661
HP:0002352	Leukoencephalopathy	80169	CTC1	OMIM:612199
HP:0002352	Leukoencephalopathy	8635	RNASET2	OMIM:612951
HP:0002352	Leukoencephalopathy	55157	DARS2	OMIM:611105
HP:0002352	Leukoencephalopathy	25939	SAMHD1	OMIM:612952
HP:0002352	Leukoencephalopathy	6342	SCP2	OMIM:613724
HP:0002352	Leukoencephalopathy	4524	MTHFR	ORPHA:395
HP:0002352	Leukoencephalopathy	10717	AP4B1	OMIM:614066
HP:0002352	Leukoencephalopathy	10717	AP4B1	ORPHA:280763
HP:0002352	Leukoencephalopathy	51501	HIKESHI	OMIM:616881
HP:0002352	Leukoencephalopathy	998	CDC42	ORPHA:487796
HP:0002352	Leukoencephalopathy	998	CDC42	OMIM:616737
HP:0002352	Leukoencephalopathy	55823	VPS11	ORPHA:466934
HP:0002352	Leukoencephalopathy	1593	CYP27A1	OMIM:213700
HP:0002352	Leukoencephalopathy	8818	DPM2	ORPHA:329178
HP:0002352	Leukoencephalopathy	51091	SEPSECS	OMIM:613811
HP:0002352	Leukoencephalopathy	81570	CLPB	OMIM:619835
HP:0002352	Leukoencephalopathy	90624	LYRM7	OMIM:615838
HP:0002352	Leukoencephalopathy	85358	SHANK3	OMIM:606232
HP:0002352	Leukoencephalopathy	25914	RTTN	ORPHA:468631
HP:0002352	Leukoencephalopathy	285362	SUMF1	OMIM:272200
HP:0002352	Leukoencephalopathy	79783	SUGCT	ORPHA:35706
HP:0002352	Leukoencephalopathy	5660	PSAP	OMIM:249900
HP:0002352	Leukoencephalopathy	5660	PSAP	OMIM:611721
HP:0002352	Leukoencephalopathy	5660	PSAP	ORPHA:206436
HP:0002352	Leukoencephalopathy	54344	DPM3	OMIM:618992
HP:0002352	Leukoencephalopathy	122961	ISCA2	OMIM:616370
HP:0002352	Leukoencephalopathy	55159	RFWD3	OMIM:617784
HP:0002352	Leukoencephalopathy	4010	LMX1B	ORPHA:495818
HP:0002352	Leukoencephalopathy	6812	STXBP1	ORPHA:495818
HP:0002352	Leukoencephalopathy	284217	LAMA1	OMIM:615960
HP:0002352	Leukoencephalopathy	271	AMPD2	OMIM:615686
HP:0002352	Leukoencephalopathy	271	AMPD2	ORPHA:401805
HP:0002352	Leukoencephalopathy	23400	ATP13A2	OMIM:617225
HP:0002352	Leukoencephalopathy	23400	ATP13A2	ORPHA:513436
HP:0002352	Leukoencephalopathy	3781	KCNN2	OMIM:619725
HP:0002352	Leukoencephalopathy	9215	LARGE1	OMIM:608840
HP:0002352	Leukoencephalopathy	9215	LARGE1	ORPHA:370968
HP:0002352	Leukoencephalopathy	80208	SPG11	OMIM:604360
HP:0002352	Leukoencephalopathy	29925	GMPPB	ORPHA:370968
HP:0002352	Leukoencephalopathy	79147	FKRP	ORPHA:370968
HP:0002352	Leukoencephalopathy	29954	POMT2	ORPHA:370968
HP:0002352	Leukoencephalopathy	10585	POMT1	ORPHA:370968
HP:0002352	Leukoencephalopathy	10059	DNM1L	ORPHA:98673
HP:0002352	Leukoencephalopathy	4976	OPA1	ORPHA:98673
HP:0002352	Leukoencephalopathy	9179	AP4M1	ORPHA:280763
HP:0002352	Leukoencephalopathy	11154	AP4S1	ORPHA:280763
HP:0002352	Leukoencephalopathy	23431	AP4E1	ORPHA:280763
HP:0002352	Leukoencephalopathy	6748	SSR4	ORPHA:370927
HP:0002352	Leukoencephalopathy	215	ABCD1	ORPHA:139396
HP:0002352	Leukoencephalopathy	7317	UBA1	ORPHA:1145
HP:0002352	Leukoencephalopathy	5879	RAC1	ORPHA:500159
HP:0002352	Leukoencephalopathy	93627	TBCK	OMIM:616900
HP:0002352	Leukoencephalopathy	93627	TBCK	ORPHA:488632
HP:0002352	Leukoencephalopathy	283989	TSEN54	OMIM:277470
HP:0002352	Leukoencephalopathy	8560	DEGS1	OMIM:618404
HP:0002352	Leukoencephalopathy	2581	GALC	ORPHA:206436
HP:0002352	Leukoencephalopathy	5832	ALDH18A1	ORPHA:447760
HP:0002352	Leukoencephalopathy	4208	MEF2C	OMIM:613443
HP:0002352	Leukoencephalopathy	79152	FA2H	OMIM:612319
HP:0002352	Leukoencephalopathy	760	CA2	ORPHA:2785
HP:0002352	Leukoencephalopathy	54	ACP5	ORPHA:1855
HP:0002352	Leukoencephalopathy	5621	PRNP	ORPHA:282166
HP:0002352	Leukoencephalopathy	220296	HEPACAM	OMIM:604004
HP:0002352	Leukoencephalopathy	23209	MLC1	OMIM:604004
HP:0002352	Leukoencephalopathy	22827	PUF60	ORPHA:508498
HP:0002352	Leukoencephalopathy	80267	EDEM3	OMIM:619493
HP:0002352	Leukoencephalopathy	5091	PC	OMIM:266150
HP:0002352	Leukoencephalopathy	4718	NDUFC2	OMIM:619170
HP:0002352	Leukoencephalopathy	7874	USP7	ORPHA:500055
HP:0002352	Leukoencephalopathy	55621	TRMT1	OMIM:618302
HP:0002352	Leukoencephalopathy	197258	FCSK	OMIM:618324
HP:0002352	Leukoencephalopathy	6651	SON	ORPHA:500150
HP:0002352	Leukoencephalopathy	6651	SON	OMIM:617140
HP:0002352	Leukoencephalopathy	79029	AFG2B	OMIM:619616
HP:0002352	Leukoencephalopathy	57479	PRR12	OMIM:619539
HP:0002352	Leukoencephalopathy	51002	TPRKB	OMIM:617731
HP:0002352	Leukoencephalopathy	57514	ARHGAP31	OMIM:100300
HP:0002352	Leukoencephalopathy	57514	ARHGAP31	ORPHA:974
HP:0002352	Leukoencephalopathy	4897	NRCAM	OMIM:619833
HP:0002352	Leukoencephalopathy	1183	CLCN4	ORPHA:485350
HP:0002352	Leukoencephalopathy	3098	HK1	OMIM:618547
HP:0002352	Leukoencephalopathy	404672	GTF2H5	ORPHA:33364
HP:0002352	Leukoencephalopathy	833	CARS1	ORPHA:33364
HP:0002352	Leukoencephalopathy	2068	ERCC2	ORPHA:33364
HP:0002352	Leukoencephalopathy	7737	RNF113A	ORPHA:33364
HP:0002352	Leukoencephalopathy	136647	MPLKIP	ORPHA:33364
HP:0002352	Leukoencephalopathy	6897	TARS1	ORPHA:33364
HP:0002352	Leukoencephalopathy	2071	ERCC3	ORPHA:33364
HP:0002352	Leukoencephalopathy	2961	GTF2E2	ORPHA:33364
HP:0002352	Leukoencephalopathy	9361	LONP1	ORPHA:79243
HP:0002352	Leukoencephalopathy	5160	PDHA1	ORPHA:79243
HP:0002352	Leukoencephalopathy	26047	CNTNAP2	ORPHA:163681
HP:0002352	Leukoencephalopathy	2972	BRF1	ORPHA:444072
HP:0002352	Leukoencephalopathy	8621	CDK13	OMIM:617360
HP:0002352	Leukoencephalopathy	22880	MORC2	ORPHA:466768
HP:0002352	Leukoencephalopathy	375387	NRROS	OMIM:618875
HP:0002352	Leukoencephalopathy	200424	TET3	OMIM:618798
HP:0002352	Leukoencephalopathy	55753	OGDHL	OMIM:619701
HP:0002352	Leukoencephalopathy	196528	ARID2	OMIM:617808
HP:0002352	Leukoencephalopathy	3516	RBPJ	ORPHA:974
HP:0002352	Leukoencephalopathy	4851	NOTCH1	ORPHA:974
HP:0002352	Leukoencephalopathy	57572	DOCK6	ORPHA:974
HP:0002352	Leukoencephalopathy	285203	EOGT	ORPHA:974
HP:0002352	Leukoencephalopathy	54567	DLL4	ORPHA:974
HP:0002352	Leukoencephalopathy	84334	COA8	ORPHA:436271
HP:0002352	Leukoencephalopathy	3798	KIF5A	OMIM:617235
HP:0002352	Leukoencephalopathy	4358	MPV17	OMIM:256810
HP:0002352	Leukoencephalopathy	100147744	RNU7-1	OMIM:619487
HP:0002352	Leukoencephalopathy	4001	LMNB1	OMIM:169500
HP:0002352	Leukoencephalopathy	387787	LIPT2	OMIM:617668
HP:0002352	Leukoencephalopathy	4953	ODC1	OMIM:619075
HP:0002352	Leukoencephalopathy	4953	ODC1	ORPHA:544488
HP:0002352	Leukoencephalopathy	5162	PDHB	ORPHA:255138
HP:0002352	Leukoencephalopathy	53834	FGFRL1	OMIM:194190
HP:0002352	Leukoencephalopathy	1487	CTBP1	OMIM:194190
HP:0002352	Leukoencephalopathy	3954	LETM1	OMIM:194190
HP:0002352	Leukoencephalopathy	7468	NSD2	OMIM:194190
HP:0002352	Leukoencephalopathy	10815	CPLX1	OMIM:194190
HP:0002352	Leukoencephalopathy	2670	GFAP	ORPHA:363722
HP:0002352	Leukoencephalopathy	4952	OCRL	OMIM:309000
HP:0002352	Leukoencephalopathy	8050	PDHX	ORPHA:255182
HP:0002352	Leukoencephalopathy	790955	UQCC3	OMIM:616111
HP:0002352	Leukoencephalopathy	2193	FARSA	OMIM:619013
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309271
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309263
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309256
HP:0002352	Leukoencephalopathy	1267	CNP	OMIM:619071
HP:0002352	Leukoencephalopathy	2760	GM2A	ORPHA:309246
HP:0002352	Leukoencephalopathy	1203	CLN5	ORPHA:228360
HP:0002352	Leukoencephalopathy	51324	SPG21	OMIM:248900
HP:0002352	Leukoencephalopathy	84065	TMEM222	OMIM:619470
HP:0002352	Leukoencephalopathy	7555	CNBP	OMIM:602668
HP:0002352	Leukoencephalopathy	6134	RPL10	OMIM:300998
HP:0002352	Leukoencephalopathy	5058	PAK1	OMIM:618158
HP:0002352	Leukoencephalopathy	4761	NEUROD2	OMIM:618374
HP:0002352	Leukoencephalopathy	23259	DDHD2	OMIM:615033
HP:0002352	Leukoencephalopathy	23259	DDHD2	ORPHA:320380
HP:0002352	Leukoencephalopathy	22866	CNKSR2	OMIM:301008
HP:0002352	Leukoencephalopathy	9692	PRORP	OMIM:619737
HP:0002352	Leukoencephalopathy	92335	STRADA	ORPHA:500533
HP:0002352	Leukoencephalopathy	51412	ACTL6B	OMIM:618468
HP:0002352	Leukoencephalopathy	2783	GNB2	OMIM:619503
HP:0002352	Leukoencephalopathy	7920	ABHD16A	OMIM:619735
HP:0002352	Leukoencephalopathy	25782	RAB3GAP2	OMIM:212720
HP:0002352	Leukoencephalopathy	85465	SELENOI	OMIM:618768
HP:0002352	Leukoencephalopathy	59	ACTA2	OMIM:613834
HP:0002352	Leukoencephalopathy	9907	AP5Z1	OMIM:613647
HP:0002352	Leukoencephalopathy	80036	TRPM3	OMIM:620224
HP:0002352	Leukoencephalopathy	10060	ABCC9	OMIM:619719
HP:0001272	Cerebellar atrophy	10749	KIF1C	ORPHA:397946
HP:0001272	Cerebellar atrophy	10749	KIF1C	OMIM:611302
HP:0001272	Cerebellar atrophy	4287	ATXN3	OMIM:109150
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276238
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276244
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276241
HP:0001272	Cerebellar atrophy	23646	PLD3	OMIM:617770
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:614381
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:619742
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:607694
HP:0001272	Cerebellar atrophy	26235	FBXL4	OMIM:615471
HP:0001272	Cerebellar atrophy	4099	MAG	OMIM:616680
HP:0001272	Cerebellar atrophy	51399	TRAPPC4	OMIM:618741
HP:0001272	Cerebellar atrophy	3703	STT3A	OMIM:615596
HP:0001272	Cerebellar atrophy	3703	STT3A	ORPHA:370921
HP:0001272	Cerebellar atrophy	55823	VPS11	OMIM:616683
HP:0001272	Cerebellar atrophy	55823	VPS11	ORPHA:466934
HP:0001272	Cerebellar atrophy	51569	UFM1	OMIM:617899
HP:0001272	Cerebellar atrophy	23446	SLC44A1	OMIM:618868
HP:0001272	Cerebellar atrophy	2895	GRID2	OMIM:616204
HP:0001272	Cerebellar atrophy	6659	SOX4	OMIM:618506
HP:0001272	Cerebellar atrophy	201595	STT3B	OMIM:615597
HP:0001272	Cerebellar atrophy	201595	STT3B	ORPHA:370924
HP:0001272	Cerebellar atrophy	60684	TRAPPC11	OMIM:615356
HP:0001272	Cerebellar atrophy	100996717	NOTCH2NLC	OMIM:618866
HP:0001272	Cerebellar atrophy	81570	CLPB	OMIM:619835
HP:0001272	Cerebellar atrophy	81570	CLPB	OMIM:616271
HP:0001272	Cerebellar atrophy	81570	CLPB	ORPHA:445038
HP:0001272	Cerebellar atrophy	1786	DNMT1	ORPHA:314404
HP:0001272	Cerebellar atrophy	1786	DNMT1	OMIM:604121
HP:0001272	Cerebellar atrophy	84942	WDR73	OMIM:251300
HP:0001272	Cerebellar atrophy	10159	ATP6AP2	ORPHA:93952
HP:0001272	Cerebellar atrophy	10159	ATP6AP2	OMIM:300423
HP:0001272	Cerebellar atrophy	5521	PPP2R2B	OMIM:604326
HP:0001272	Cerebellar atrophy	5521	PPP2R2B	ORPHA:98762
HP:0001272	Cerebellar atrophy	6687	SPG7	ORPHA:99013
HP:0001272	Cerebellar atrophy	6687	SPG7	OMIM:607259
HP:0001272	Cerebellar atrophy	4125	MAN2B1	ORPHA:309282
HP:0001272	Cerebellar atrophy	4125	MAN2B1	ORPHA:309288
HP:0001272	Cerebellar atrophy	4125	MAN2B1	OMIM:248500
HP:0001272	Cerebellar atrophy	3074	HEXB	ORPHA:309162
HP:0001272	Cerebellar atrophy	10908	PNPLA6	ORPHA:139480
HP:0001272	Cerebellar atrophy	10908	PNPLA6	OMIM:215470
HP:0001272	Cerebellar atrophy	10908	PNPLA6	OMIM:612020
HP:0001272	Cerebellar atrophy	65993	MRPS34	OMIM:617664
HP:0001272	Cerebellar atrophy	10300	KATNB1	OMIM:616212
HP:0001272	Cerebellar atrophy	10300	KATNB1	ORPHA:89844
HP:0001272	Cerebellar atrophy	8722	CTSF	OMIM:615362
HP:0001272	Cerebellar atrophy	10528	NOP56	OMIM:614153
HP:0001272	Cerebellar atrophy	56997	COQ8A	ORPHA:139485
HP:0001272	Cerebellar atrophy	56997	COQ8A	OMIM:612016
HP:0001272	Cerebellar atrophy	10026	PIGK	OMIM:618879
HP:0001272	Cerebellar atrophy	477	ATP1A2	OMIM:619605
HP:0001272	Cerebellar atrophy	477	ATP1A2	OMIM:602481
HP:0001272	Cerebellar atrophy	477	ATP1A2	ORPHA:569
HP:0001272	Cerebellar atrophy	478	ATP1A3	OMIM:619606
HP:0001272	Cerebellar atrophy	478	ATP1A3	ORPHA:71517
HP:0001272	Cerebellar atrophy	10501	SEMA6B	OMIM:618876
HP:0001272	Cerebellar atrophy	84520	GON7	OMIM:619603
HP:0001272	Cerebellar atrophy	55768	NGLY1	ORPHA:404454
HP:0001272	Cerebellar atrophy	1161	ERCC8	OMIM:216400
HP:0001272	Cerebellar atrophy	79693	YRDC	OMIM:619609
HP:0001272	Cerebellar atrophy	146057	TTBK2	OMIM:604432
HP:0001272	Cerebellar atrophy	219285	SAMD9L	OMIM:159550
HP:0001272	Cerebellar atrophy	219285	SAMD9L	ORPHA:2585
HP:0001272	Cerebellar atrophy	219285	SAMD9L	OMIM:619806
HP:0001272	Cerebellar atrophy	79147	FKRP	OMIM:606612
HP:0001272	Cerebellar atrophy	79147	FKRP	ORPHA:370980
HP:0001272	Cerebellar atrophy	535	ATP6V0A1	OMIM:619971
HP:0001272	Cerebellar atrophy	7345	UCHL1	OMIM:615491
HP:0001272	Cerebellar atrophy	347733	TUBB2B	ORPHA:300573
HP:0001272	Cerebellar atrophy	7343	UBTF	OMIM:617672
HP:0001272	Cerebellar atrophy	816	CAMK2B	OMIM:617799
HP:0001272	Cerebellar atrophy	10352	WARS2	OMIM:619738
HP:0001272	Cerebellar atrophy	10352	WARS2	ORPHA:572798
HP:0001272	Cerebellar atrophy	10352	WARS2	OMIM:617710
HP:0001272	Cerebellar atrophy	3064	HTT	OMIM:617435
HP:0001272	Cerebellar atrophy	3064	HTT	OMIM:143100
HP:0001272	Cerebellar atrophy	3064	HTT	ORPHA:248111
HP:0001272	Cerebellar atrophy	7436	VLDLR	OMIM:224050
HP:0001272	Cerebellar atrophy	9326	ZNHIT3	ORPHA:2836
HP:0001272	Cerebellar atrophy	9326	ZNHIT3	OMIM:260565
HP:0001272	Cerebellar atrophy	547	KIF1A	ORPHA:2836
HP:0001272	Cerebellar atrophy	547	KIF1A	OMIM:610357
HP:0001272	Cerebellar atrophy	547	KIF1A	OMIM:614255
HP:0001272	Cerebellar atrophy	8560	DEGS1	OMIM:618404
HP:0001272	Cerebellar atrophy	10939	AFG3L2	ORPHA:313772
HP:0001272	Cerebellar atrophy	10939	AFG3L2	OMIM:610246
HP:0001272	Cerebellar atrophy	10939	AFG3L2	OMIM:614487
HP:0001272	Cerebellar atrophy	1130	LYST	ORPHA:167
HP:0001272	Cerebellar atrophy	343641	TGM6	ORPHA:276193
HP:0001272	Cerebellar atrophy	343641	TGM6	OMIM:613908
HP:0001272	Cerebellar atrophy	10715	CERS1	OMIM:616230
HP:0001272	Cerebellar atrophy	84504	NKX6-2	OMIM:617560
HP:0001272	Cerebellar atrophy	84504	NKX6-2	ORPHA:527497
HP:0001272	Cerebellar atrophy	10935	PRDX3	OMIM:619862
HP:0001272	Cerebellar atrophy	2744	GLS	OMIM:618412
HP:0001272	Cerebellar atrophy	6712	SPTBN2	OMIM:615386
HP:0001272	Cerebellar atrophy	6712	SPTBN2	OMIM:600224
HP:0001272	Cerebellar atrophy	6712	SPTBN2	ORPHA:98766
HP:0001272	Cerebellar atrophy	6712	SPTBN2	ORPHA:352403
HP:0001272	Cerebellar atrophy	57231	SNX14	OMIM:616354
HP:0001272	Cerebellar atrophy	83636	C19orf12	OMIM:614298
HP:0001272	Cerebellar atrophy	833	CARS1	OMIM:618891
HP:0001272	Cerebellar atrophy	54872	PIGG	ORPHA:488635
HP:0001272	Cerebellar atrophy	57178	ZMIZ1	OMIM:618659
HP:0001272	Cerebellar atrophy	246243	RNASEH1	OMIM:616479
HP:0001272	Cerebellar atrophy	51761	ATP8A2	OMIM:615268
HP:0001272	Cerebellar atrophy	54840	APTX	OMIM:208920
HP:0001272	Cerebellar atrophy	79731	NARS2	OMIM:616239
HP:0001272	Cerebellar atrophy	6905	TBCE	OMIM:617207
HP:0001272	Cerebellar atrophy	6905	TBCE	ORPHA:496756
HP:0001272	Cerebellar atrophy	950	SCARB2	OMIM:254900
HP:0001272	Cerebellar atrophy	5373	PMM2	OMIM:212065
HP:0001272	Cerebellar atrophy	2074	ERCC6	OMIM:214150
HP:0001272	Cerebellar atrophy	253738	EBF3	OMIM:617330
HP:0001272	Cerebellar atrophy	1186	CLCN7	OMIM:618541
HP:0001272	Cerebellar atrophy	2911	GRM1	OMIM:617691
HP:0001272	Cerebellar atrophy	2911	GRM1	OMIM:614831
HP:0001272	Cerebellar atrophy	55621	TRMT1	OMIM:618302
HP:0001272	Cerebellar atrophy	51604	PIGT	OMIM:615398
HP:0001272	Cerebellar atrophy	51604	PIGT	ORPHA:369837
HP:0001272	Cerebellar atrophy	55280	CWF19L1	OMIM:616127
HP:0001272	Cerebellar atrophy	54902	TTC19	OMIM:615157
HP:0001272	Cerebellar atrophy	3098	HK1	OMIM:618547
HP:0001272	Cerebellar atrophy	8021	NUP214	OMIM:618426
HP:0001272	Cerebellar atrophy	4191	MDH2	OMIM:617339
HP:0001272	Cerebellar atrophy	150468	CKAP2L	OMIM:272440
HP:0001272	Cerebellar atrophy	285362	SUMF1	OMIM:272200
HP:0001272	Cerebellar atrophy	56052	ALG1	ORPHA:79327
HP:0001272	Cerebellar atrophy	79796	ALG9	ORPHA:79328
HP:0001272	Cerebellar atrophy	79796	ALG9	OMIM:608776
HP:0001272	Cerebellar atrophy	3766	KCNJ10	ORPHA:199343
HP:0001272	Cerebellar atrophy	3766	KCNJ10	OMIM:612780
HP:0001272	Cerebellar atrophy	55210	ATAD3A	ORPHA:496790
HP:0001272	Cerebellar atrophy	55210	ATAD3A	OMIM:617183
HP:0001272	Cerebellar atrophy	9533	POLR1C	OMIM:616494
HP:0001272	Cerebellar atrophy	54828	BCAS3	OMIM:619641
HP:0001272	Cerebellar atrophy	8733	GPAA1	ORPHA:529665
HP:0001272	Cerebellar atrophy	8733	GPAA1	OMIM:617810
HP:0001272	Cerebellar atrophy	5621	PRNP	ORPHA:157941
HP:0001272	Cerebellar atrophy	5621	PRNP	OMIM:137440
HP:0001272	Cerebellar atrophy	2232	FDXR	ORPHA:543470
HP:0001272	Cerebellar atrophy	56947	MFF	ORPHA:485421
HP:0001272	Cerebellar atrophy	56947	MFF	OMIM:617086
HP:0001272	Cerebellar atrophy	23400	ATP13A2	OMIM:617225
HP:0001272	Cerebellar atrophy	23400	ATP13A2	ORPHA:513436
HP:0001272	Cerebellar atrophy	10531	PITRM1	OMIM:619405
HP:0001272	Cerebellar atrophy	146227	BEAN1	ORPHA:217012
HP:0001272	Cerebellar atrophy	146227	BEAN1	OMIM:117210
HP:0001272	Cerebellar atrophy	256471	MFSD8	OMIM:610951
HP:0001272	Cerebellar atrophy	91949	COG7	ORPHA:79333
HP:0001272	Cerebellar atrophy	91949	COG7	OMIM:608779
HP:0001272	Cerebellar atrophy	56652	TWNK	OMIM:271245
HP:0001272	Cerebellar atrophy	56652	TWNK	ORPHA:254892
HP:0001272	Cerebellar atrophy	23556	PIGN	OMIM:614080
HP:0001272	Cerebellar atrophy	23556	PIGN	ORPHA:280633
HP:0001272	Cerebellar atrophy	51651	PTRH2	OMIM:616263
HP:0001272	Cerebellar atrophy	23007	PLCH1	OMIM:619895
HP:0001272	Cerebellar atrophy	23162	MAPK8IP3	OMIM:618443
HP:0001272	Cerebellar atrophy	197258	FCSK	OMIM:618324
HP:0001272	Cerebellar atrophy	11284	PNKP	OMIM:616267
HP:0001272	Cerebellar atrophy	11284	PNKP	ORPHA:1934
HP:0001272	Cerebellar atrophy	11284	PNKP	OMIM:613402
HP:0001272	Cerebellar atrophy	259232	NALCN	OMIM:616266
HP:0001272	Cerebellar atrophy	339855	KY	ORPHA:496689
HP:0001272	Cerebellar atrophy	125988	MICOS13	OMIM:618329
HP:0001272	Cerebellar atrophy	29960	MRM2	OMIM:618567
HP:0001272	Cerebellar atrophy	2055	CLN8	ORPHA:1947
HP:0001272	Cerebellar atrophy	2055	CLN8	OMIM:600143
HP:0001272	Cerebellar atrophy	2055	CLN8	OMIM:610003
HP:0001272	Cerebellar atrophy	57192	MCOLN1	OMIM:252650
HP:0001272	Cerebellar atrophy	10195	ALG3	OMIM:601110
HP:0001272	Cerebellar atrophy	91137	SLC25A46	OMIM:619303
HP:0001272	Cerebellar atrophy	91137	SLC25A46	OMIM:616505
HP:0001272	Cerebellar atrophy	58497	PRUNE1	OMIM:617481
HP:0001272	Cerebellar atrophy	58497	PRUNE1	ORPHA:544469
HP:0001272	Cerebellar atrophy	5111	PCNA	ORPHA:438134
HP:0001272	Cerebellar atrophy	5111	PCNA	OMIM:615919
HP:0001272	Cerebellar atrophy	3980	LIG3	OMIM:619780
HP:0001272	Cerebellar atrophy	11232	POLG2	OMIM:619425
HP:0001272	Cerebellar atrophy	11232	POLG2	ORPHA:254892
HP:0001272	Cerebellar atrophy	11232	POLG2	OMIM:610131
HP:0001272	Cerebellar atrophy	5277	PIGA	OMIM:301072
HP:0001272	Cerebellar atrophy	6792	CDKL5	ORPHA:1934
HP:0001272	Cerebellar atrophy	3736	KCNA1	ORPHA:1934
HP:0001272	Cerebellar atrophy	3736	KCNA1	ORPHA:37612
HP:0001272	Cerebellar atrophy	9091	PIGQ	ORPHA:1934
HP:0001272	Cerebellar atrophy	2775	GNAO1	ORPHA:1934
HP:0001272	Cerebellar atrophy	2775	GNAO1	OMIM:617493
HP:0001272	Cerebellar atrophy	81603	TRIM8	ORPHA:1934
HP:0001272	Cerebellar atrophy	2902	GRIN1	ORPHA:1934
HP:0001272	Cerebellar atrophy	2902	GRIN1	OMIM:614254
HP:0001272	Cerebellar atrophy	79751	SLC25A22	ORPHA:1934
HP:0001272	Cerebellar atrophy	150094	SIK1	ORPHA:1934
HP:0001272	Cerebellar atrophy	8573	CASK	ORPHA:1934
HP:0001272	Cerebellar atrophy	23312	DMXL2	ORPHA:1934
HP:0001272	Cerebellar atrophy	2917	GRM7	ORPHA:1934
HP:0001272	Cerebellar atrophy	2917	GRM7	OMIM:618922
HP:0001272	Cerebellar atrophy	170302	ARX	ORPHA:1934
HP:0001272	Cerebellar atrophy	6326	SCN2A	ORPHA:1934
HP:0001272	Cerebellar atrophy	51227	PIGP	ORPHA:1934
HP:0001272	Cerebellar atrophy	6324	SCN1B	ORPHA:1934
HP:0001272	Cerebellar atrophy	4761	NEUROD2	ORPHA:1934
HP:0001272	Cerebellar atrophy	1203	CLN5	ORPHA:228360
HP:0001272	Cerebellar atrophy	1203	CLN5	OMIM:256731
HP:0001272	Cerebellar atrophy	291	SLC25A4	ORPHA:254892
HP:0001272	Cerebellar atrophy	5428	POLG	ORPHA:254892
HP:0001272	Cerebellar atrophy	5428	POLG	OMIM:258450
HP:0001272	Cerebellar atrophy	5428	POLG	ORPHA:254886
HP:0001272	Cerebellar atrophy	5428	POLG	OMIM:203700
HP:0001272	Cerebellar atrophy	50484	RRM2B	ORPHA:254892
HP:0001272	Cerebellar atrophy	23111	SPART	OMIM:275900
HP:0001272	Cerebellar atrophy	10059	DNM1L	ORPHA:330050
HP:0001272	Cerebellar atrophy	10059	DNM1L	ORPHA:98673
HP:0001272	Cerebellar atrophy	8925	HERC1	OMIM:617011
HP:0001272	Cerebellar atrophy	79876	UBA5	OMIM:617132
HP:0001272	Cerebellar atrophy	79876	UBA5	OMIM:617133
HP:0001272	Cerebellar atrophy	10466	COG5	ORPHA:263487
HP:0001272	Cerebellar atrophy	10466	COG5	OMIM:613612
HP:0001272	Cerebellar atrophy	9759	HDAC4	OMIM:619797
HP:0001272	Cerebellar atrophy	23516	SLC39A14	OMIM:617013
HP:0001272	Cerebellar atrophy	23516	SLC39A14	ORPHA:521406
HP:0001272	Cerebellar atrophy	8506	CNTNAP1	OMIM:616286
HP:0001272	Cerebellar atrophy	8506	CNTNAP1	OMIM:618186
HP:0001272	Cerebellar atrophy	23345	SYNE1	ORPHA:88644
HP:0001272	Cerebellar atrophy	23345	SYNE1	OMIM:610743
HP:0001272	Cerebellar atrophy	51728	POLR3K	OMIM:619310
HP:0001272	Cerebellar atrophy	10785	WDR4	OMIM:618347
HP:0001272	Cerebellar atrophy	4719	NDUFS1	OMIM:618226
HP:0001272	Cerebellar atrophy	51412	ACTL6B	OMIM:618468
HP:0001272	Cerebellar atrophy	3708	ITPR1	ORPHA:208513
HP:0001272	Cerebellar atrophy	3708	ITPR1	OMIM:206700
HP:0001272	Cerebellar atrophy	3708	ITPR1	ORPHA:98769
HP:0001272	Cerebellar atrophy	3708	ITPR1	OMIM:606658
HP:0001272	Cerebellar atrophy	4838	NODAL	OMIM:270100
HP:0001272	Cerebellar atrophy	6507	SLC1A3	ORPHA:209967
HP:0001272	Cerebellar atrophy	6507	SLC1A3	OMIM:612656
HP:0001272	Cerebellar atrophy	128869	PIGU	OMIM:618590
HP:0001272	Cerebellar atrophy	10733	PLK4	OMIM:616171
HP:0001272	Cerebellar atrophy	6548	SLC9A1	OMIM:616291
HP:0001272	Cerebellar atrophy	55610	VPS50	OMIM:619685
HP:0001272	Cerebellar atrophy	7084	TK2	ORPHA:254886
HP:0001272	Cerebellar atrophy	81790	RNF170	OMIM:619686
HP:0001272	Cerebellar atrophy	23102	TBC1D2B	OMIM:619323
HP:0001272	Cerebellar atrophy	23114	NFASC	OMIM:618356
HP:0001272	Cerebellar atrophy	6647	SOD1	OMIM:618598
HP:0001272	Cerebellar atrophy	92667	MGME1	OMIM:615084
HP:0001272	Cerebellar atrophy	92667	MGME1	ORPHA:352447
HP:0001272	Cerebellar atrophy	25814	ATXN10	OMIM:603516
HP:0001272	Cerebellar atrophy	25814	ATXN10	ORPHA:98761
HP:0001272	Cerebellar atrophy	5649	RELN	ORPHA:89844
HP:0001272	Cerebellar atrophy	54820	NDE1	ORPHA:89844
HP:0001272	Cerebellar atrophy	51601	LIPT1	OMIM:616299
HP:0001272	Cerebellar atrophy	8878	SQSTM1	OMIM:617145
HP:0001272	Cerebellar atrophy	29078	NDUFAF4	OMIM:618237
HP:0001272	Cerebellar atrophy	11152	WDR45	ORPHA:329284
HP:0001272	Cerebellar atrophy	11152	WDR45	OMIM:300894
HP:0001272	Cerebellar atrophy	154881	KCTD7	OMIM:611726
HP:0001272	Cerebellar atrophy	154881	KCTD7	ORPHA:263516
HP:0001272	Cerebellar atrophy	9179	AP4M1	OMIM:612936
HP:0001272	Cerebellar atrophy	9179	AP4M1	ORPHA:280763
HP:0001272	Cerebellar atrophy	79944	L2HGDH	OMIM:236792
HP:0001272	Cerebellar atrophy	6904	TBCD	ORPHA:496641
HP:0001272	Cerebellar atrophy	6904	TBCD	OMIM:617193
HP:0001272	Cerebellar atrophy	4976	OPA1	ORPHA:98673
HP:0001272	Cerebellar atrophy	4976	OPA1	OMIM:210000
HP:0001272	Cerebellar atrophy	5934	RBL2	OMIM:619690
HP:0001272	Cerebellar atrophy	25929	GEMIN5	OMIM:619333
HP:0001272	Cerebellar atrophy	4621	MYH3	OMIM:193700
HP:0001272	Cerebellar atrophy	56915	EXOSC5	OMIM:619576
HP:0001272	Cerebellar atrophy	10588	MTHFS	OMIM:618367
HP:0001272	Cerebellar atrophy	63925	ZNF335	OMIM:615095
HP:0001272	Cerebellar atrophy	4704	NDUFA9	OMIM:618247
HP:0001272	Cerebellar atrophy	55572	FOXRED1	OMIM:618241
HP:0001272	Cerebellar atrophy	3746	KCNC1	OMIM:616187
HP:0001272	Cerebellar atrophy	8120	AP3B2	OMIM:617276
HP:0001272	Cerebellar atrophy	54834	GDAP2	OMIM:618369
HP:0001272	Cerebellar atrophy	7965	AIMP2	OMIM:618006
HP:0001272	Cerebellar atrophy	51079	NDUFA13	OMIM:618249
HP:0001272	Cerebellar atrophy	26999	CYFIP2	OMIM:618008
HP:0001272	Cerebellar atrophy	1201	CLN3	ORPHA:228346
HP:0001272	Cerebellar atrophy	773	CACNA1A	ORPHA:569
HP:0001272	Cerebellar atrophy	773	CACNA1A	OMIM:183086
HP:0001272	Cerebellar atrophy	773	CACNA1A	OMIM:141500
HP:0001272	Cerebellar atrophy	112476	PRRT2	ORPHA:569
HP:0001272	Cerebellar atrophy	6323	SCN1A	ORPHA:569
HP:0001272	Cerebellar atrophy	2898	GRIK2	OMIM:619580
HP:0001272	Cerebellar atrophy	5611	DNAJC3	OMIM:616192
HP:0001272	Cerebellar atrophy	5611	DNAJC3	ORPHA:445062
HP:0001272	Cerebellar atrophy	2332	FMR1	OMIM:300623
HP:0001272	Cerebellar atrophy	10524	KAT5	OMIM:619103
HP:0001272	Cerebellar atrophy	372	ARCN1	OMIM:617164
HP:0001272	Cerebellar atrophy	2705	GJB1	OMIM:302800
HP:0001272	Cerebellar atrophy	523	ATP6V1A	OMIM:618012
HP:0001272	Cerebellar atrophy	2257	FGF12	OMIM:617166
HP:0001272	Cerebellar atrophy	2071	ERCC3	OMIM:610651
HP:0001272	Cerebellar atrophy	1200	TPP1	OMIM:609270
HP:0001272	Cerebellar atrophy	1200	TPP1	ORPHA:284324
HP:0001272	Cerebellar atrophy	2218	FKTN	ORPHA:370980
HP:0001272	Cerebellar atrophy	729920	CRPPA	ORPHA:370980
HP:0001272	Cerebellar atrophy	10585	POMT1	ORPHA:370980
HP:0001272	Cerebellar atrophy	220296	HEPACAM	OMIM:613925
HP:0001272	Cerebellar atrophy	1938	EEF2	ORPHA:101112
HP:0001272	Cerebellar atrophy	1938	EEF2	OMIM:609306
HP:0001272	Cerebellar atrophy	65260	COA7	OMIM:618387
HP:0001272	Cerebellar atrophy	23316	CUX2	OMIM:618141
HP:0001272	Cerebellar atrophy	64849	SLC13A3	OMIM:618384
HP:0001272	Cerebellar atrophy	94005	PIGS	OMIM:618143
HP:0001272	Cerebellar atrophy	4361	MRE11	ORPHA:251347
HP:0001272	Cerebellar atrophy	4361	MRE11	OMIM:604391
HP:0001272	Cerebellar atrophy	51091	SEPSECS	OMIM:613811
HP:0001272	Cerebellar atrophy	1528	CYB5A	ORPHA:621
HP:0001272	Cerebellar atrophy	1727	CYB5R3	ORPHA:621
HP:0001272	Cerebellar atrophy	2571	GAD1	OMIM:619124
HP:0001272	Cerebellar atrophy	6872	TAF1	OMIM:300966
HP:0001272	Cerebellar atrophy	90522	YIF1B	OMIM:619125
HP:0001272	Cerebellar atrophy	84340	GFM2	OMIM:618397
HP:0001272	Cerebellar atrophy	23287	AGTPBP1	OMIM:618276
HP:0001272	Cerebellar atrophy	57038	RARS2	OMIM:611523
HP:0001272	Cerebellar atrophy	57704	GBA2	ORPHA:320391
HP:0001272	Cerebellar atrophy	57704	GBA2	OMIM:614409
HP:0001272	Cerebellar atrophy	2799	GNS	OMIM:252940
HP:0001272	Cerebellar atrophy	9895	TECPR2	ORPHA:320385
HP:0001272	Cerebellar atrophy	6389	SDHA	OMIM:619259
HP:0001272	Cerebellar atrophy	10479	SLC9A6	ORPHA:85278
HP:0001272	Cerebellar atrophy	10479	SLC9A6	OMIM:300243
HP:0001272	Cerebellar atrophy	10273	STUB1	ORPHA:412057
HP:0001272	Cerebellar atrophy	10273	STUB1	OMIM:618093
HP:0001272	Cerebellar atrophy	10273	STUB1	OMIM:615768
HP:0001272	Cerebellar atrophy	383	ARG1	OMIM:207800
HP:0001272	Cerebellar atrophy	3295	HSD17B4	OMIM:261515
HP:0001272	Cerebellar atrophy	3295	HSD17B4	OMIM:233400
HP:0001272	Cerebellar atrophy	54936	ADPRS	OMIM:618170
HP:0001272	Cerebellar atrophy	64802	NMNAT1	OMIM:619260
HP:0001272	Cerebellar atrophy	79644	SRD5A3	ORPHA:324737
HP:0001272	Cerebellar atrophy	27072	VPS41	OMIM:619389
HP:0001272	Cerebellar atrophy	84274	COQ5	OMIM:619028
HP:0001272	Cerebellar atrophy	221927	BRAT1	OMIM:618056
HP:0001272	Cerebellar atrophy	10535	RNASEH2A	OMIM:610333
HP:0001272	Cerebellar atrophy	11342	RNF13	ORPHA:544503
HP:0001272	Cerebellar atrophy	27445	PCLO	OMIM:608027
HP:0001272	Cerebellar atrophy	8398	PLA2G6	OMIM:610217
HP:0001272	Cerebellar atrophy	8398	PLA2G6	ORPHA:35069
HP:0001272	Cerebellar atrophy	8398	PLA2G6	OMIM:256600
HP:0001272	Cerebellar atrophy	64858	DCLRE1B	OMIM:620133
HP:0001272	Cerebellar atrophy	55129	ANO10	OMIM:613728
HP:0001272	Cerebellar atrophy	55129	ANO10	ORPHA:284289
HP:0001272	Cerebellar atrophy	60481	ELOVL5	ORPHA:423296
HP:0001272	Cerebellar atrophy	25792	CIZ1	ORPHA:420492
HP:0001272	Cerebellar atrophy	64374	SIL1	OMIM:248800
HP:0001272	Cerebellar atrophy	4702	NDUFA8	OMIM:619272
HP:0001272	Cerebellar atrophy	10134	BCAP31	OMIM:300475
HP:0001272	Cerebellar atrophy	10134	BCAP31	ORPHA:369939
HP:0001272	Cerebellar atrophy	158	ADSL	OMIM:103050
HP:0001272	Cerebellar atrophy	51102	MECR	ORPHA:508093
HP:0001272	Cerebellar atrophy	5393	EXOSC9	OMIM:618065
HP:0001272	Cerebellar atrophy	7355	SLC35A2	ORPHA:356961
HP:0001272	Cerebellar atrophy	1593	CYP27A1	OMIM:213700
HP:0001272	Cerebellar atrophy	1593	CYP27A1	ORPHA:909
HP:0001272	Cerebellar atrophy	347734	SLC35B2	OMIM:620269
HP:0001272	Cerebellar atrophy	2896	GRN	OMIM:614706
HP:0001272	Cerebellar atrophy	10667	FARS2	OMIM:614946
HP:0001272	Cerebellar atrophy	23126	POGZ	ORPHA:468678
HP:0001272	Cerebellar atrophy	200205	IBA57	ORPHA:468661
HP:0001272	Cerebellar atrophy	9442	MED27	OMIM:619286
HP:0001272	Cerebellar atrophy	6311	ATXN2	OMIM:183090
HP:0001272	Cerebellar atrophy	25914	RTTN	OMIM:614833
HP:0001272	Cerebellar atrophy	25914	RTTN	ORPHA:468631
HP:0001272	Cerebellar atrophy	54476	RNF216	OMIM:212840
HP:0001272	Cerebellar atrophy	23431	AP4E1	OMIM:613744
HP:0001272	Cerebellar atrophy	23431	AP4E1	ORPHA:280763
HP:0001272	Cerebellar atrophy	4884	NPTX1	OMIM:620158
HP:0001272	Cerebellar atrophy	9382	COG1	OMIM:611209
HP:0001272	Cerebellar atrophy	51324	SPG21	OMIM:248900
HP:0001272	Cerebellar atrophy	64207	IRF2BPL	OMIM:618088
HP:0001272	Cerebellar atrophy	55157	DARS2	ORPHA:137898
HP:0001272	Cerebellar atrophy	5173	PDYN	OMIM:610245
HP:0001272	Cerebellar atrophy	1509	CTSD	OMIM:610127
HP:0001272	Cerebellar atrophy	1717	DHCR7	OMIM:270400
HP:0001272	Cerebellar atrophy	80856	LNPK	OMIM:618090
HP:0001272	Cerebellar atrophy	26278	SACS	ORPHA:98
HP:0001272	Cerebellar atrophy	1327	COX4I1	OMIM:619060
HP:0001272	Cerebellar atrophy	23203	PMPCA	ORPHA:1170
HP:0001272	Cerebellar atrophy	7156	TOP3A	OMIM:618098
HP:0001272	Cerebellar atrophy	26090	ABHD12	OMIM:612674
HP:0001272	Cerebellar atrophy	55775	TDP1	OMIM:607250
HP:0001272	Cerebellar atrophy	84342	COG8	ORPHA:95428
HP:0001272	Cerebellar atrophy	84342	COG8	OMIM:611182
HP:0001272	Cerebellar atrophy	1600	DAB1	OMIM:615945
HP:0001272	Cerebellar atrophy	4598	MVK	OMIM:610377
HP:0001272	Cerebellar atrophy	10382	TUBB4A	OMIM:612438
HP:0001272	Cerebellar atrophy	84947	SERAC1	OMIM:614739
HP:0001272	Cerebellar atrophy	9711	RUBCN	OMIM:615705
HP:0001272	Cerebellar atrophy	6908	TBP	OMIM:607136
HP:0001272	Cerebellar atrophy	6908	TBP	ORPHA:98759
HP:0001272	Cerebellar atrophy	7915	ALDH5A1	OMIM:271980
HP:0001272	Cerebellar atrophy	2259	FGF14	OMIM:620174
HP:0001272	Cerebellar atrophy	2259	FGF14	ORPHA:98764
HP:0001272	Cerebellar atrophy	2259	FGF14	OMIM:193003
HP:0001272	Cerebellar atrophy	3475	IFRD1	ORPHA:98771
HP:0001272	Cerebellar atrophy	3752	KCND3	ORPHA:98772
HP:0001272	Cerebellar atrophy	3752	KCND3	OMIM:607346
HP:0001272	Cerebellar atrophy	1267	CNP	OMIM:619071
HP:0001272	Cerebellar atrophy	5828	PEX2	OMIM:614866
HP:0001272	Cerebellar atrophy	5828	PEX2	OMIM:614867
HP:0001272	Cerebellar atrophy	90624	LYRM7	OMIM:615838
HP:0001272	Cerebellar atrophy	1282	COL4A1	OMIM:175780
HP:0001272	Cerebellar atrophy	3748	KCNC3	ORPHA:98768
HP:0001272	Cerebellar atrophy	3748	KCNC3	OMIM:605259
HP:0001272	Cerebellar atrophy	83475	DOHH	OMIM:620066
HP:0001272	Cerebellar atrophy	724066	ATXN8	ORPHA:98760
HP:0001272	Cerebellar atrophy	724066	ATXN8	OMIM:608768
HP:0001272	Cerebellar atrophy	6315	ATXN8OS	ORPHA:98760
HP:0001272	Cerebellar atrophy	6315	ATXN8OS	OMIM:608768
HP:0001272	Cerebellar atrophy	492	ATP2B3	OMIM:302500
HP:0001272	Cerebellar atrophy	255928	SYT14	ORPHA:284271
HP:0001272	Cerebellar atrophy	255928	SYT14	OMIM:614229
HP:0001272	Cerebellar atrophy	5192	PEX10	OMIM:614871
HP:0001272	Cerebellar atrophy	9409	PEX16	OMIM:614877
HP:0001272	Cerebellar atrophy	64135	IFIH1	OMIM:615846
HP:0001272	Cerebellar atrophy	25828	TXN2	OMIM:616811
HP:0001272	Cerebellar atrophy	7274	TTPA	OMIM:277460
HP:0001272	Cerebellar atrophy	6310	ATXN1	ORPHA:98755
HP:0001272	Cerebellar atrophy	22880	MORC2	OMIM:619090
HP:0001272	Cerebellar atrophy	22880	MORC2	ORPHA:466768
HP:0001272	Cerebellar atrophy	55275	VPS53	OMIM:615851
HP:0001272	Cerebellar atrophy	10815	CPLX1	ORPHA:352582
HP:0001272	Cerebellar atrophy	57465	TBC1D24	ORPHA:352582
HP:0001272	Cerebellar atrophy	1384	CRAT	OMIM:617917
HP:0001272	Cerebellar atrophy	64116	SLC39A8	ORPHA:468699
HP:0001272	Cerebellar atrophy	64116	SLC39A8	OMIM:616721
HP:0001272	Cerebellar atrophy	200403	VWA3B	OMIM:616948
HP:0001272	Cerebellar atrophy	85021	REPS1	OMIM:617916
HP:0001272	Cerebellar atrophy	3954	LETM1	OMIM:620089
HP:0001272	Cerebellar atrophy	1487	CTBP1	OMIM:617915
HP:0001272	Cerebellar atrophy	6314	ATXN7	ORPHA:94147
HP:0001272	Cerebellar atrophy	57017	COQ9	OMIM:614654
HP:0001272	Cerebellar atrophy	55690	PACS1	ORPHA:329224
HP:0001272	Cerebellar atrophy	22907	DHX30	OMIM:617804
HP:0001272	Cerebellar atrophy	79628	SH3TC2	ORPHA:99949
HP:0001272	Cerebellar atrophy	7407	VARS1	OMIM:617802
HP:0001272	Cerebellar atrophy	339453	TMEM240	OMIM:607454
HP:0001272	Cerebellar atrophy	1861	TOR1A	OMIM:128100
HP:0001272	Cerebellar atrophy	11128	POLR3A	OMIM:607694
HP:0001272	Cerebellar atrophy	92935	MARS2	OMIM:611390
HP:0001272	Cerebellar atrophy	92935	MARS2	OMIM:616430
HP:0001272	Cerebellar atrophy	80207	OPA3	ORPHA:67036
HP:0001272	Cerebellar atrophy	124997	WDR81	OMIM:610185
HP:0001272	Cerebellar atrophy	6334	SCN8A	OMIM:614306
HP:0001272	Cerebellar atrophy	7545	ZIC1	OMIM:616602
HP:0001272	Cerebellar atrophy	55187	VPS13D	OMIM:607317
HP:0001272	Cerebellar atrophy	998	CDC42	OMIM:616737
HP:0001272	Cerebellar atrophy	998	CDC42	ORPHA:487796
HP:0001272	Cerebellar atrophy	57505	AARS2	OMIM:615889
HP:0001272	Cerebellar atrophy	50	ACO2	OMIM:614559
HP:0001272	Cerebellar atrophy	51010	EXOSC3	OMIM:614678
HP:0001272	Cerebellar atrophy	2891	GRIA2	OMIM:618917
HP:0001272	Cerebellar atrophy	4694	NDUFA1	OMIM:301020
HP:0001272	Cerebellar atrophy	27235	COQ2	OMIM:607426
HP:0001272	Cerebellar atrophy	23732	FRRS1L	OMIM:616981
HP:0001272	Cerebellar atrophy	63035	BCORL1	OMIM:301029
HP:0001272	Cerebellar atrophy	9512	PMPCB	OMIM:617954
HP:0001272	Cerebellar atrophy	6709	SPTAN1	OMIM:613477
HP:0001272	Cerebellar atrophy	51741	WWOX	OMIM:614322
HP:0001272	Cerebellar atrophy	2058	EPRS1	OMIM:617951
HP:0001272	Cerebellar atrophy	80746	TSEN2	OMIM:612389
HP:0001272	Cerebellar atrophy	5582	PRKCG	OMIM:605361
HP:0001272	Cerebellar atrophy	5422	POLA1	OMIM:301030
HP:0001272	Cerebellar atrophy	84188	FAR1	ORPHA:438178
HP:0001272	Cerebellar atrophy	57511	COG6	OMIM:614576
HP:0001272	Cerebellar atrophy	23065	EMC1	OMIM:616875
HP:0001272	Cerebellar atrophy	128637	TBC1D20	OMIM:615663
HP:0001272	Cerebellar atrophy	5981	RFC1	OMIM:614575
HP:0001272	Cerebellar atrophy	55644	OSGEP	OMIM:617729
HP:0001272	Cerebellar atrophy	9997	SCO2	OMIM:604377
HP:0001272	Cerebellar atrophy	8270	LAGE3	OMIM:301006
HP:0001272	Cerebellar atrophy	80781	COL18A1	OMIM:267750
HP:0001272	Cerebellar atrophy	122553	TRAPPC6B	OMIM:617862
HP:0001272	Cerebellar atrophy	7222	TRPC3	OMIM:616410
HP:0001272	Cerebellar atrophy	80210	ARMC9	OMIM:617622
HP:0001272	Cerebellar atrophy	2670	GFAP	ORPHA:363717
HP:0001272	Cerebellar atrophy	55704	CCDC88A	OMIM:617507
HP:0001272	Cerebellar atrophy	55164	SHQ1	OMIM:619922
HP:0001272	Cerebellar atrophy	6785	ELOVL4	OMIM:133190
HP:0001272	Cerebellar atrophy	617	BCS1L	OMIM:124000
HP:0001272	Cerebellar atrophy	10717	AP4B1	ORPHA:280763
HP:0001272	Cerebellar atrophy	11154	AP4S1	ORPHA:280763
HP:0001272	Cerebellar atrophy	95	ACY1	OMIM:609924
HP:0001272	Cerebellar atrophy	8913	CACNA1G	ORPHA:458803
HP:0001272	Cerebellar atrophy	8913	CACNA1G	OMIM:616795
HP:0001272	Cerebellar atrophy	9197	SLC33A1	OMIM:614482
HP:0001272	Cerebellar atrophy	4724	NDUFS4	OMIM:252010
HP:0001272	Cerebellar atrophy	7515	XRCC1	OMIM:617633
HP:0001272	Cerebellar atrophy	133686	NADK2	ORPHA:431361
HP:0001272	Cerebellar atrophy	23533	PIK3R5	OMIM:615217
HP:0001272	Cerebellar atrophy	3778	KCNMA1	OMIM:618729
HP:0001272	Cerebellar atrophy	3778	KCNMA1	OMIM:617643
HP:0001272	Cerebellar atrophy	87178	PNPT1	OMIM:608703
HP:0001272	Cerebellar atrophy	51075	TMX2	OMIM:618730
HP:0001272	Cerebellar atrophy	8884	SLC5A6	OMIM:618973
HP:0001272	Cerebellar atrophy	23404	EXOSC2	OMIM:617763
HP:0001272	Cerebellar atrophy	79587	CARS2	OMIM:616672
HP:0001272	Cerebellar atrophy	2196	FAT2	OMIM:617769
HP:0001272	Cerebellar atrophy	5297	PI4KA	OMIM:619708
HP:0001272	Cerebellar atrophy	267010	RNU12	ORPHA:512260
HP:0001272	Cerebellar atrophy	8450	CUL4B	OMIM:300354
HP:0001272	Cerebellar atrophy	375	ARF1	OMIM:618185
HP:0001272	Cerebellar atrophy	9698	PUM1	OMIM:617931
HP:0001272	Cerebellar atrophy	4311	MME	OMIM:617018
HP:0001272	Cerebellar atrophy	4311	MME	ORPHA:497764
HP:0001272	Cerebellar atrophy	9254	CACNA2D2	OMIM:618501
HP:0001272	Cerebellar atrophy	26047	CNTNAP2	ORPHA:163681
HP:0001272	Cerebellar atrophy	203068	TUBB	OMIM:156610
HP:0001272	Cerebellar atrophy	5859	QARS1	OMIM:615760
HP:0001272	Cerebellar atrophy	53335	BCL11A	OMIM:617101
HP:0001272	Cerebellar atrophy	1742	DLG4	OMIM:618793
HP:0001272	Cerebellar atrophy	4010	LMX1B	ORPHA:495818
HP:0001272	Cerebellar atrophy	6812	STXBP1	ORPHA:495818
HP:0001272	Cerebellar atrophy	54676	GTPBP2	OMIM:617988
HP:0001272	Cerebellar atrophy	11261	CHP1	OMIM:618438
HP:0001272	Cerebellar atrophy	5354	PLP1	OMIM:312080
HP:0001272	Cerebellar atrophy	116228	COX20	OMIM:619054
HP:0001272	Cerebellar atrophy	7518	XRCC4	OMIM:616541
HP:0001272	Cerebellar atrophy	57410	SCYL1	ORPHA:466794
HP:0001272	Cerebellar atrophy	57410	SCYL1	OMIM:616719
HP:0001272	Cerebellar atrophy	6095	RORA	OMIM:618060
HP:0001272	Cerebellar atrophy	1213	CLTC	OMIM:617854
HP:0001272	Cerebellar atrophy	79152	FA2H	ORPHA:171629
HP:0001272	Cerebellar atrophy	27183	VPS4A	OMIM:619273
HP:0001272	Cerebellar atrophy	8813	DPM1	OMIM:608799
HP:0001272	Cerebellar atrophy	8813	DPM1	ORPHA:79322
HP:0001272	Cerebellar atrophy	23064	SETX	OMIM:606002
HP:0001272	Cerebellar atrophy	440193	CCDC88C	OMIM:616053
HP:0001272	Cerebellar atrophy	440193	CCDC88C	ORPHA:423275
HP:0001272	Cerebellar atrophy	3908	LAMA2	ORPHA:258
HP:0001272	Cerebellar atrophy	5190	PEX6	ORPHA:95433
HP:0001272	Cerebellar atrophy	9373	PLAA	ORPHA:521426
HP:0001272	Cerebellar atrophy	6309	SC5D	ORPHA:46059
HP:0001272	Cerebellar atrophy	8882	ZPR1	OMIM:619321
HP:0001272	Cerebellar atrophy	85358	SHANK3	ORPHA:48652
HP:0001272	Cerebellar atrophy	686	BTD	OMIM:253260
HP:0001272	Cerebellar atrophy	819	CAMLG	OMIM:620201
HP:0001272	Cerebellar atrophy	404672	GTF2H5	ORPHA:33364
HP:0001272	Cerebellar atrophy	2068	ERCC2	ORPHA:33364
HP:0001272	Cerebellar atrophy	7737	RNF113A	ORPHA:33364
HP:0001272	Cerebellar atrophy	136647	MPLKIP	ORPHA:33364
HP:0001272	Cerebellar atrophy	6897	TARS1	ORPHA:33364
HP:0001272	Cerebellar atrophy	2961	GTF2E2	ORPHA:33364
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:97240
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:171433
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:171430
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:2020
HP:0001558	Decreased fetal movement	58	ACTA1	OMIM:161800
HP:0001558	Decreased fetal movement	2261	FGFR3	OMIM:187601
HP:0001558	Decreased fetal movement	2261	FGFR3	OMIM:187600
HP:0001558	Decreased fetal movement	4359	MPZ	OMIM:618184
HP:0001558	Decreased fetal movement	2673	GFPT1	OMIM:608931
HP:0001558	Decreased fetal movement	1145	CHRNE	OMIM:608931
HP:0001558	Decreased fetal movement	27238	GPKOW	ORPHA:2570
HP:0001558	Decreased fetal movement	199857	ALG14	OMIM:619036
HP:0001558	Decreased fetal movement	29925	GMPPB	OMIM:615350
HP:0001558	Decreased fetal movement	29925	GMPPB	OMIM:615351
HP:0001558	Decreased fetal movement	5351	PLOD1	OMIM:225400
HP:0001558	Decreased fetal movement	56896	DPYSL5	OMIM:619435
HP:0001558	Decreased fetal movement	1144	CHRND	OMIM:616322
HP:0001558	Decreased fetal movement	8506	CNTNAP1	OMIM:618186
HP:0001558	Decreased fetal movement	8506	CNTNAP1	OMIM:616286
HP:0001558	Decreased fetal movement	5393	EXOSC9	OMIM:618065
HP:0001558	Decreased fetal movement	112	ADCY6	OMIM:616287
HP:0001558	Decreased fetal movement	4000	LMNA	OMIM:619793
HP:0001558	Decreased fetal movement	4000	LMNA	ORPHA:157973
HP:0001558	Decreased fetal movement	4000	LMNA	ORPHA:1662
HP:0001558	Decreased fetal movement	4000	LMNA	OMIM:613205
HP:0001558	Decreased fetal movement	23345	SYNE1	ORPHA:88644
HP:0001558	Decreased fetal movement	23345	SYNE1	OMIM:618484
HP:0001558	Decreased fetal movement	23345	SYNE1	ORPHA:319332
HP:0001558	Decreased fetal movement	56203	LMOD3	OMIM:616165
HP:0001558	Decreased fetal movement	56203	LMOD3	ORPHA:171430
HP:0001558	Decreased fetal movement	5913	RAPSN	OMIM:616326
HP:0001558	Decreased fetal movement	5913	RAPSN	OMIM:618388
HP:0001558	Decreased fetal movement	2632	GBE1	OMIM:232500
HP:0001558	Decreased fetal movement	51126	NAA20	OMIM:619717
HP:0001558	Decreased fetal movement	10059	DNM1L	OMIM:614388
HP:0001558	Decreased fetal movement	1355	COX15	OMIM:615119
HP:0001558	Decreased fetal movement	145173	B3GLCT	ORPHA:709
HP:0001558	Decreased fetal movement	79796	ALG9	OMIM:608776
HP:0001558	Decreased fetal movement	79796	ALG9	ORPHA:79328
HP:0001558	Decreased fetal movement	4703	NEB	OMIM:256030
HP:0001558	Decreased fetal movement	4703	NEB	ORPHA:171433
HP:0001558	Decreased fetal movement	4703	NEB	ORPHA:171430
HP:0001558	Decreased fetal movement	4703	NEB	OMIM:619334
HP:0001558	Decreased fetal movement	10102	TSFM	OMIM:610505
HP:0001558	Decreased fetal movement	274	BIN1	ORPHA:169189
HP:0001558	Decreased fetal movement	274	BIN1	OMIM:255200
HP:0001558	Decreased fetal movement	64419	MTMR14	ORPHA:169189
HP:0001558	Decreased fetal movement	4618	MYF6	ORPHA:169189
HP:0001558	Decreased fetal movement	1785	DNM2	ORPHA:169189
HP:0001558	Decreased fetal movement	1785	DNM2	OMIM:615368
HP:0001558	Decreased fetal movement	6261	RYR1	ORPHA:169189
HP:0001558	Decreased fetal movement	6261	RYR1	OMIM:255320
HP:0001558	Decreased fetal movement	6261	RYR1	ORPHA:98905
HP:0001558	Decreased fetal movement	6261	RYR1	OMIM:619542
HP:0001558	Decreased fetal movement	2629	GBA1	OMIM:608013
HP:0001558	Decreased fetal movement	2629	GBA1	ORPHA:85212
HP:0001558	Decreased fetal movement	7681	MKRN3	OMIM:176270
HP:0001558	Decreased fetal movement	3653	IPW	OMIM:176270
HP:0001558	Decreased fetal movement	54551	MAGEL2	OMIM:176270
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177904
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177901
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:398069
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177910
HP:0001558	Decreased fetal movement	54551	MAGEL2	OMIM:615547
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:98754
HP:0001558	Decreased fetal movement	791114	PWRN1	OMIM:176270
HP:0001558	Decreased fetal movement	100033413	SNORD116-1	OMIM:176270
HP:0001558	Decreased fetal movement	8924	HERC2	OMIM:176270
HP:0001558	Decreased fetal movement	145624	PWAR1	OMIM:176270
HP:0001558	Decreased fetal movement	23742	NPAP1	OMIM:176270
HP:0001558	Decreased fetal movement	338433	SNORD115-1	OMIM:176270
HP:0001558	Decreased fetal movement	1303	COL12A1	ORPHA:75840
HP:0001558	Decreased fetal movement	1291	COL6A1	ORPHA:75840
HP:0001558	Decreased fetal movement	1291	COL6A1	OMIM:158810
HP:0001558	Decreased fetal movement	1292	COL6A2	ORPHA:75840
HP:0001558	Decreased fetal movement	1292	COL6A2	OMIM:158810
HP:0001558	Decreased fetal movement	1293	COL6A3	ORPHA:75840
HP:0001558	Decreased fetal movement	1293	COL6A3	OMIM:158810
HP:0001558	Decreased fetal movement	59341	TRPV4	OMIM:156530
HP:0001558	Decreased fetal movement	59341	TRPV4	OMIM:600175
HP:0001558	Decreased fetal movement	3481	IGF2	ORPHA:231144
HP:0001558	Decreased fetal movement	283120	H19	ORPHA:231144
HP:0001558	Decreased fetal movement	2073	ERCC5	OMIM:616570
HP:0001558	Decreased fetal movement	23114	NFASC	OMIM:618356
HP:0001558	Decreased fetal movement	9578	CDC42BPB	OMIM:619841
HP:0001558	Decreased fetal movement	10324	KLHL41	ORPHA:171433
HP:0001558	Decreased fetal movement	10324	KLHL41	ORPHA:171430
HP:0001558	Decreased fetal movement	7170	TPM3	ORPHA:171433
HP:0001558	Decreased fetal movement	7170	TPM3	ORPHA:2020
HP:0001558	Decreased fetal movement	7170	TPM3	OMIM:255310
HP:0001558	Decreased fetal movement	131377	KLHL40	ORPHA:171430
HP:0001558	Decreased fetal movement	131377	KLHL40	OMIM:615348
HP:0001558	Decreased fetal movement	4649	MYO9A	OMIM:618198
HP:0001558	Decreased fetal movement	4649	MYO9A	ORPHA:98914
HP:0001558	Decreased fetal movement	6616	SNAP25	OMIM:616330
HP:0001558	Decreased fetal movement	6616	SNAP25	ORPHA:98914
HP:0001558	Decreased fetal movement	84466	MEGF10	OMIM:614399
HP:0001558	Decreased fetal movement	1763	DNA2	ORPHA:352470
HP:0001558	Decreased fetal movement	2314	FLII	ORPHA:819
HP:0001558	Decreased fetal movement	23096	IQSEC2	ORPHA:819
HP:0001558	Decreased fetal movement	10743	RAI1	ORPHA:819
HP:0001558	Decreased fetal movement	10522	DEAF1	ORPHA:819
HP:0001558	Decreased fetal movement	55033	FKBP14	OMIM:614557
HP:0001558	Decreased fetal movement	9200	HACD1	OMIM:619967
HP:0001558	Decreased fetal movement	9200	HACD1	ORPHA:2020
HP:0001558	Decreased fetal movement	3508	IGHMBP2	OMIM:604320
HP:0001558	Decreased fetal movement	5979	RET	ORPHA:99803
HP:0001558	Decreased fetal movement	429	ASCL1	ORPHA:99803
HP:0001558	Decreased fetal movement	8929	PHOX2B	ORPHA:99803
HP:0001558	Decreased fetal movement	1760	DMPK	OMIM:160900
HP:0001558	Decreased fetal movement	1760	DMPK	ORPHA:589821
HP:0001558	Decreased fetal movement	7125	TNNC2	OMIM:620161
HP:0001558	Decreased fetal movement	284403	WDR62	OMIM:604317
HP:0001558	Decreased fetal movement	1146	CHRNG	OMIM:265000
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177904
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177901
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177910
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:98754
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177904
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177901
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177910
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:98754
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:177904
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:177901
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:98754
HP:0001558	Decreased fetal movement	4621	MYH3	OMIM:193700
HP:0001558	Decreased fetal movement	64324	NSD1	OMIM:117550
HP:0001558	Decreased fetal movement	55906	ZC4H2	OMIM:314580
HP:0001558	Decreased fetal movement	8260	NAA10	OMIM:300855
HP:0001558	Decreased fetal movement	146862	UNC45B	OMIM:619178
HP:0001558	Decreased fetal movement	1272	CNTN1	OMIM:612540
HP:0001558	Decreased fetal movement	23511	NUP188	OMIM:618804
HP:0001558	Decreased fetal movement	1147	CHUK	OMIM:613630
HP:0001558	Decreased fetal movement	27315	PGAP2	OMIM:614207
HP:0001558	Decreased fetal movement	55681	SCYL2	OMIM:618766
HP:0001558	Decreased fetal movement	55681	SCYL2	ORPHA:1143
HP:0001558	Decreased fetal movement	93627	TBCK	OMIM:616900
HP:0001558	Decreased fetal movement	51008	ASCC1	OMIM:616867
HP:0001558	Decreased fetal movement	57211	ADGRG6	OMIM:616503
HP:0001558	Decreased fetal movement	9325	TRIP4	OMIM:616866
HP:0001558	Decreased fetal movement	9570	GOSR2	OMIM:620166
HP:0001558	Decreased fetal movement	6606	SMN1	OMIM:253300
HP:0001558	Decreased fetal movement	1717	DHCR7	OMIM:270400
HP:0001558	Decreased fetal movement	10815	CPLX1	ORPHA:280
HP:0001558	Decreased fetal movement	10815	CPLX1	OMIM:194190
HP:0001558	Decreased fetal movement	54872	PIGG	ORPHA:280
HP:0001558	Decreased fetal movement	7469	NELFA	ORPHA:280
HP:0001558	Decreased fetal movement	1487	CTBP1	ORPHA:280
HP:0001558	Decreased fetal movement	1487	CTBP1	OMIM:194190
HP:0001558	Decreased fetal movement	3954	LETM1	ORPHA:280
HP:0001558	Decreased fetal movement	3954	LETM1	OMIM:194190
HP:0001558	Decreased fetal movement	7468	NSD2	ORPHA:280
HP:0001558	Decreased fetal movement	7468	NSD2	OMIM:194190
HP:0001558	Decreased fetal movement	57190	SELENON	ORPHA:2020
HP:0001558	Decreased fetal movement	4633	MYL2	ORPHA:2020
HP:0001558	Decreased fetal movement	3679	ITGA7	ORPHA:2020
HP:0001558	Decreased fetal movement	7169	TPM2	ORPHA:2020
HP:0001558	Decreased fetal movement	51776	MAP3K20	ORPHA:2020
HP:0001558	Decreased fetal movement	51651	PTRH2	ORPHA:456312
HP:0001558	Decreased fetal movement	51651	PTRH2	OMIM:616263
HP:0001558	Decreased fetal movement	2906	GRIN2D	OMIM:617162
HP:0001558	Decreased fetal movement	2906	GRIN2D	ORPHA:442835
HP:0001558	Decreased fetal movement	7317	UBA1	OMIM:301830
HP:0001558	Decreased fetal movement	127833	SYT2	OMIM:619461
HP:0001558	Decreased fetal movement	127833	SYT2	ORPHA:98914
HP:0001558	Decreased fetal movement	3560	IL2RB	OMIM:618495
HP:0001558	Decreased fetal movement	6885	MAP3K7	OMIM:157800
HP:0001558	Decreased fetal movement	4613	MYCN	OMIM:164280
HP:0001558	Decreased fetal movement	2783	GNB2	OMIM:619503
HP:0001558	Decreased fetal movement	4632	MYL1	OMIM:618414
HP:0001558	Decreased fetal movement	3737	KCNA2	ORPHA:442835
HP:0001558	Decreased fetal movement	1759	DNM1	ORPHA:442835
HP:0001558	Decreased fetal movement	8120	AP3B2	ORPHA:442835
HP:0001558	Decreased fetal movement	523	ATP6V1A	ORPHA:442835
HP:0001558	Decreased fetal movement	10991	SLC38A3	ORPHA:442835
HP:0001558	Decreased fetal movement	51343	FZR1	ORPHA:442835
HP:0001558	Decreased fetal movement	22906	TRAK1	ORPHA:442835
HP:0001558	Decreased fetal movement	2566	GABRG2	ORPHA:442835
HP:0001558	Decreased fetal movement	1917	EEF1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	2561	GABRB2	ORPHA:442835
HP:0001558	Decreased fetal movement	8831	SYNGAP1	ORPHA:442835
HP:0001558	Decreased fetal movement	7532	YWHAG	ORPHA:442835
HP:0001558	Decreased fetal movement	79876	UBA5	ORPHA:442835
HP:0001558	Decreased fetal movement	6328	SCN3A	ORPHA:442835
HP:0001558	Decreased fetal movement	2558	GABRA5	ORPHA:442835
HP:0001558	Decreased fetal movement	781	CACNA2D1	ORPHA:442835
HP:0001558	Decreased fetal movement	116150	NUS1	ORPHA:442835
HP:0001558	Decreased fetal movement	10659	CELF2	ORPHA:442835
HP:0001558	Decreased fetal movement	774	CACNA1B	ORPHA:442835
HP:0001558	Decreased fetal movement	1213	CLTC	ORPHA:442835
HP:0001558	Decreased fetal movement	51741	WWOX	ORPHA:442835
HP:0001558	Decreased fetal movement	23334	SZT2	ORPHA:442835
HP:0001558	Decreased fetal movement	51412	ACTL6B	ORPHA:442835
HP:0001558	Decreased fetal movement	348980	HCN1	ORPHA:442835
HP:0001558	Decreased fetal movement	6506	SLC1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	8867	SYNJ1	ORPHA:442835
HP:0001558	Decreased fetal movement	2258	FGF13	ORPHA:442835
HP:0001558	Decreased fetal movement	477	ATP1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	3745	KCNB1	ORPHA:442835
HP:0001558	Decreased fetal movement	284111	SLC13A5	ORPHA:442835
HP:0001558	Decreased fetal movement	25977	NECAP1	ORPHA:442835
HP:0001558	Decreased fetal movement	25977	NECAP1	OMIM:615833
HP:0001558	Decreased fetal movement	16	AARS1	ORPHA:442835
HP:0001558	Decreased fetal movement	6334	SCN8A	ORPHA:442835
HP:0001558	Decreased fetal movement	22866	CNKSR2	ORPHA:442835
HP:0001558	Decreased fetal movement	9568	GABBR2	ORPHA:442835
HP:0001558	Decreased fetal movement	2555	GABRA2	ORPHA:442835
HP:0001558	Decreased fetal movement	55152	DALRD3	ORPHA:442835
HP:0001558	Decreased fetal movement	773	CACNA1A	ORPHA:442835
HP:0001558	Decreased fetal movement	26999	CYFIP2	ORPHA:442835
HP:0001558	Decreased fetal movement	4915	NTRK2	ORPHA:442835
HP:0001558	Decreased fetal movement	25973	PARS2	ORPHA:442835
HP:0001558	Decreased fetal movement	23097	CDK19	ORPHA:442835
HP:0001558	Decreased fetal movement	64801	ARV1	ORPHA:442835
HP:0001558	Decreased fetal movement	79947	DHDDS	ORPHA:442835
HP:0001558	Decreased fetal movement	2257	FGF12	ORPHA:442835
HP:0001558	Decreased fetal movement	5530	PPP3CA	ORPHA:442835
HP:0001558	Decreased fetal movement	478	ATP1A3	ORPHA:442835
HP:0001558	Decreased fetal movement	79053	ALG8	OMIM:608104
HP:0001558	Decreased fetal movement	53834	FGFRL1	OMIM:194190
HP:0001558	Decreased fetal movement	57572	DOCK6	OMIM:614219
HP:0001558	Decreased fetal movement	60386	SLC25A19	ORPHA:99742
HP:0001558	Decreased fetal movement	26227	PHGDH	OMIM:256520
HP:0001558	Decreased fetal movement	4534	MTM1	ORPHA:596
HP:0001558	Decreased fetal movement	4534	MTM1	OMIM:310400
HP:0001558	Decreased fetal movement	4953	ODC1	OMIM:619075
HP:0001558	Decreased fetal movement	1798	DPAGT1	ORPHA:86309
HP:0001558	Decreased fetal movement	23299	BICD2	ORPHA:363454
HP:0001558	Decreased fetal movement	23299	BICD2	OMIM:618291
HP:0001558	Decreased fetal movement	253738	EBF3	OMIM:617330
HP:0001558	Decreased fetal movement	7874	USP7	ORPHA:500055
HP:0001558	Decreased fetal movement	57003	CCDC47	OMIM:618268
HP:0001558	Decreased fetal movement	157680	VPS13B	ORPHA:193
HP:0001558	Decreased fetal movement	4593	MUSK	OMIM:208150
HP:0001558	Decreased fetal movement	100128927	ZBTB42	OMIM:616248
HP:0001558	Decreased fetal movement	9453	GGPS1	OMIM:619518
HP:0001558	Decreased fetal movement	1861	TOR1A	OMIM:618947
HP:0001558	Decreased fetal movement	51692	CPSF3	OMIM:619876
HP:0001558	Decreased fetal movement	8087	FXR1	OMIM:618823
HP:0001558	Decreased fetal movement	8364	H4C3	OMIM:619758
HP:0001558	Decreased fetal movement	54499	TMCO1	OMIM:213980
HP:0001558	Decreased fetal movement	51611	DPH5	OMIM:620070
HP:0001558	Decreased fetal movement	4927	NUP88	OMIM:618393
HP:0001558	Decreased fetal movement	10293	TRAIP	OMIM:616777
HP:0001558	Decreased fetal movement	163175	LGI4	OMIM:617468
HP:0001558	Decreased fetal movement	60482	SLC5A7	ORPHA:98914
HP:0001558	Decreased fetal movement	1305	COL13A1	ORPHA:98914
HP:0001558	Decreased fetal movement	1103	CHAT	ORPHA:98914
HP:0001558	Decreased fetal movement	6576	SLC25A1	ORPHA:98914
HP:0001558	Decreased fetal movement	6843	VAMP1	ORPHA:98914
HP:0001558	Decreased fetal movement	6843	VAMP1	OMIM:618323
HP:0001558	Decreased fetal movement	375790	AGRN	ORPHA:98914
HP:0001558	Decreased fetal movement	6572	SLC18A3	ORPHA:98914
HP:0001558	Decreased fetal movement	55164	SHQ1	OMIM:619922
HP:0001558	Decreased fetal movement	6519	SLC3A1	ORPHA:163690
HP:0001558	Decreased fetal movement	6519	SLC3A1	ORPHA:163693
HP:0001558	Decreased fetal movement	9581	PREPL	ORPHA:163690
HP:0001558	Decreased fetal movement	9581	PREPL	ORPHA:163693
HP:0001558	Decreased fetal movement	51244	CCDC174	OMIM:616816
HP:0001558	Decreased fetal movement	6663	SOX10	OMIM:609136
HP:0001558	Decreased fetal movement	2065	ERBB3	OMIM:607598
HP:0001558	Decreased fetal movement	5495	PPM1B	ORPHA:163693
HP:0001558	Decreased fetal movement	79823	CAMKMT	ORPHA:163693
HP:0001558	Decreased fetal movement	342035	GLDN	OMIM:617194
HP:0001558	Decreased fetal movement	729920	CRPPA	OMIM:614643
HP:0001558	Decreased fetal movement	8504	PEX3	OMIM:614882
HP:0001558	Decreased fetal movement	10269	ZMPSTE24	ORPHA:1662
HP:0001558	Decreased fetal movement	10269	ZMPSTE24	OMIM:275210
HP:0001558	Decreased fetal movement	23219	FBXO28	OMIM:619777
HP:0001558	Decreased fetal movement	84570	COL25A1	ORPHA:1143
HP:0001558	Decreased fetal movement	57222	ERGIC1	ORPHA:1143
HP:0001558	Decreased fetal movement	5824	PEX19	OMIM:614886
HP:0001558	Decreased fetal movement	5430	POLR2A	OMIM:618603
HP:0001558	Decreased fetal movement	6567	SLC16A2	ORPHA:59
HP:0001558	Decreased fetal movement	81570	CLPB	OMIM:616271
HP:0001558	Decreased fetal movement	58497	PRUNE1	OMIM:617481
HP:0001558	Decreased fetal movement	54101	RIPK4	OMIM:263650
HP:0001558	Decreased fetal movement	115286	SLC25A26	OMIM:616794
HP:0001558	Decreased fetal movement	29968	PSAT1	OMIM:616038
HP:0001558	Decreased fetal movement	5081	PAX7	OMIM:618578
HP:0001558	Decreased fetal movement	389827	MYMK	OMIM:254940
HP:0001558	Decreased fetal movement	285489	DOK7	OMIM:254300
HP:0001558	Decreased fetal movement	7846	TUBA1A	ORPHA:994
HP:0001558	Decreased fetal movement	4654	MYOD1	ORPHA:994
HP:0001558	Decreased fetal movement	4654	MYOD1	OMIM:618975
HP:0001558	Decreased fetal movement	94005	PIGS	OMIM:618143
HP:0001558	Decreased fetal movement	2733	GLE1	OMIM:611890
HP:0001558	Decreased fetal movement	84665	MYPN	ORPHA:171439
HP:0001558	Decreased fetal movement	390594	KBTBD13	ORPHA:171439
HP:0001558	Decreased fetal movement	91754	NEK9	OMIM:617022
HP:0001558	Decreased fetal movement	3800	KIF5C	OMIM:615282
HP:0001558	Decreased fetal movement	1134	CHRNA1	OMIM:253290
HP:0002353	EEG abnormality	401474	SAMD12	OMIM:601068
HP:0002353	EEG abnormality	57465	TBC1D24	ORPHA:352596
HP:0002353	EEG abnormality	56910	STARD7	OMIM:607876
HP:0002353	EEG abnormality	27286	SRPX2	ORPHA:1945
HP:0002353	EEG abnormality	5138	PDE2A	OMIM:619150
HP:0002353	EEG abnormality	2218	FKTN	ORPHA:272
HP:0002353	EEG abnormality	2218	FKTN	ORPHA:588
HP:0002353	EEG abnormality	9853	RUSC2	OMIM:617773
HP:0002353	EEG abnormality	23446	SLC44A1	OMIM:618868
HP:0002353	EEG abnormality	3265	HRAS	ORPHA:2612
HP:0002353	EEG abnormality	3845	KRAS	ORPHA:2612
HP:0002353	EEG abnormality	3845	KRAS	ORPHA:1340
HP:0002353	EEG abnormality	4893	NRAS	ORPHA:2612
HP:0002353	EEG abnormality	60684	TRAPPC11	OMIM:615356
HP:0002353	EEG abnormality	2904	GRIN2B	OMIM:613970
HP:0002353	EEG abnormality	26040	SETBP1	ORPHA:436151
HP:0002353	EEG abnormality	55624	POMGNT1	OMIM:253280
HP:0002353	EEG abnormality	55624	POMGNT1	ORPHA:588
HP:0002353	EEG abnormality	10667	FARS2	OMIM:614946
HP:0002353	EEG abnormality	4047	LSS	ORPHA:2850
HP:0002353	EEG abnormality	197	AHSG	ORPHA:2850
HP:0002353	EEG abnormality	3694	ITGB6	ORPHA:2850
HP:0002353	EEG abnormality	51	ACOX1	ORPHA:2971
HP:0002353	EEG abnormality	23126	POGZ	ORPHA:468678
HP:0002353	EEG abnormality	54209	TREM2	OMIM:618193
HP:0002353	EEG abnormality	387119	CEP85L	OMIM:618873
HP:0002353	EEG abnormality	387787	LIPT2	OMIM:617668
HP:0002353	EEG abnormality	27245	AHDC1	ORPHA:412069
HP:0002353	EEG abnormality	166378	AFG2A	OMIM:616577
HP:0002353	EEG abnormality	100996717	NOTCH2NLC	ORPHA:2289
HP:0002353	EEG abnormality	25914	RTTN	OMIM:614833
HP:0002353	EEG abnormality	2314	FLII	ORPHA:819
HP:0002353	EEG abnormality	23096	IQSEC2	ORPHA:819
HP:0002353	EEG abnormality	10743	RAI1	ORPHA:819
HP:0002353	EEG abnormality	10743	RAI1	ORPHA:1713
HP:0002353	EEG abnormality	10743	RAI1	OMIM:182290
HP:0002353	EEG abnormality	10522	DEAF1	ORPHA:819
HP:0002353	EEG abnormality	10522	DEAF1	OMIM:617171
HP:0002353	EEG abnormality	5818	NECTIN1	ORPHA:3253
HP:0002353	EEG abnormality	4758	NEU1	ORPHA:812
HP:0002353	EEG abnormality	55768	NGLY1	ORPHA:404454
HP:0002353	EEG abnormality	284403	WDR62	OMIM:604317
HP:0002353	EEG abnormality	1185	CLCN6	OMIM:619173
HP:0002353	EEG abnormality	6023	RMRP	ORPHA:175
HP:0002353	EEG abnormality	5105	PCK1	OMIM:261680
HP:0002353	EEG abnormality	6844	VAMP2	OMIM:618760
HP:0002353	EEG abnormality	9326	ZNHIT3	ORPHA:2836
HP:0002353	EEG abnormality	547	KIF1A	ORPHA:2836
HP:0002353	EEG abnormality	2055	CLN8	OMIM:610003
HP:0002353	EEG abnormality	2055	CLN8	OMIM:600143
HP:0002353	EEG abnormality	10939	AFG3L2	ORPHA:313772
HP:0002353	EEG abnormality	9839	ZEB2	ORPHA:261552
HP:0002353	EEG abnormality	9839	ZEB2	ORPHA:261537
HP:0002353	EEG abnormality	51651	PTRH2	ORPHA:456312
HP:0002353	EEG abnormality	5602	MAPK10	ORPHA:2382
HP:0002353	EEG abnormality	23316	CUX2	ORPHA:2382
HP:0002353	EEG abnormality	23316	CUX2	OMIM:618141
HP:0002353	EEG abnormality	23461	ABCA5	ORPHA:2026
HP:0002353	EEG abnormality	2783	GNB2	OMIM:619503
HP:0002353	EEG abnormality	26057	ANKRD17	OMIM:619504
HP:0002353	EEG abnormality	53834	FGFRL1	OMIM:194190
HP:0002353	EEG abnormality	1487	CTBP1	OMIM:194190
HP:0002353	EEG abnormality	3954	LETM1	OMIM:194190
HP:0002353	EEG abnormality	7468	NSD2	OMIM:194190
HP:0002353	EEG abnormality	10815	CPLX1	OMIM:194190
HP:0002353	EEG abnormality	383	ARG1	ORPHA:90
HP:0002353	EEG abnormality	7915	ALDH5A1	OMIM:271980
HP:0002353	EEG abnormality	9255	AIMP1	OMIM:260600
HP:0002353	EEG abnormality	79753	SNIP1	OMIM:614501
HP:0002353	EEG abnormality	6507	SLC1A3	ORPHA:2131
HP:0002353	EEG abnormality	5590	PRKCZ	ORPHA:1606
HP:0002353	EEG abnormality	2563	GABRD	ORPHA:1606
HP:0002353	EEG abnormality	23013	SPEN	ORPHA:1606
HP:0002353	EEG abnormality	8510	MMP23B	ORPHA:1606
HP:0002353	EEG abnormality	7798	LUZP1	ORPHA:1606
HP:0002353	EEG abnormality	6497	SKI	ORPHA:1606
HP:0002353	EEG abnormality	10630	PDPN	ORPHA:1606
HP:0002353	EEG abnormality	3339	HSPG2	ORPHA:1606
HP:0002353	EEG abnormality	10277	UBE4B	ORPHA:1606
HP:0002353	EEG abnormality	8514	KCNAB2	ORPHA:1606
HP:0002353	EEG abnormality	473	RERE	ORPHA:1606
HP:0002353	EEG abnormality	63976	PRDM16	ORPHA:1606
HP:0002353	EEG abnormality	54897	CASZ1	ORPHA:1606
HP:0002353	EEG abnormality	6638	SNRPN	OMIM:105830
HP:0002353	EEG abnormality	6638	SNRPN	OMIM:209850
HP:0002353	EEG abnormality	6638	SNRPN	ORPHA:411515
HP:0002353	EEG abnormality	148789	B3GALNT2	ORPHA:588
HP:0002353	EEG abnormality	29925	GMPPB	ORPHA:588
HP:0002353	EEG abnormality	79147	FKRP	ORPHA:588
HP:0002353	EEG abnormality	9215	LARGE1	ORPHA:588
HP:0002353	EEG abnormality	29954	POMT2	ORPHA:588
HP:0002353	EEG abnormality	10585	POMT1	ORPHA:588
HP:0002353	EEG abnormality	8905	AP1S2	ORPHA:85329
HP:0002353	EEG abnormality	4094	MAF	ORPHA:1272
HP:0002353	EEG abnormality	8733	GPAA1	ORPHA:529665
HP:0002353	EEG abnormality	8733	GPAA1	OMIM:617810
HP:0002353	EEG abnormality	27086	FOXP1	ORPHA:391372
HP:0002353	EEG abnormality	2232	FDXR	ORPHA:543470
HP:0002353	EEG abnormality	56947	MFF	ORPHA:485421
HP:0002353	EEG abnormality	200424	TET3	OMIM:618798
HP:0002353	EEG abnormality	29110	TBK1	OMIM:617900
HP:0002353	EEG abnormality	29110	TBK1	ORPHA:1930
HP:0002353	EEG abnormality	256471	MFSD8	OMIM:610951
HP:0002353	EEG abnormality	57192	MCOLN1	ORPHA:578
HP:0002353	EEG abnormality	23065	EMC1	ORPHA:480898
HP:0002353	EEG abnormality	8813	DPM1	OMIM:608799
HP:0002353	EEG abnormality	55670	PEX26	ORPHA:44
HP:0002353	EEG abnormality	55670	PEX26	ORPHA:912
HP:0002353	EEG abnormality	5824	PEX19	ORPHA:44
HP:0002353	EEG abnormality	5824	PEX19	ORPHA:912
HP:0002353	EEG abnormality	5828	PEX2	ORPHA:44
HP:0002353	EEG abnormality	5828	PEX2	ORPHA:912
HP:0002353	EEG abnormality	8504	PEX3	ORPHA:44
HP:0002353	EEG abnormality	8504	PEX3	ORPHA:912
HP:0002353	EEG abnormality	9409	PEX16	ORPHA:44
HP:0002353	EEG abnormality	9409	PEX16	ORPHA:912
HP:0002353	EEG abnormality	5190	PEX6	ORPHA:44
HP:0002353	EEG abnormality	5190	PEX6	ORPHA:912
HP:0002353	EEG abnormality	8799	PEX11B	ORPHA:44
HP:0002353	EEG abnormality	8799	PEX11B	ORPHA:912
HP:0002353	EEG abnormality	8799	PEX11B	OMIM:614920
HP:0002353	EEG abnormality	5830	PEX5	ORPHA:44
HP:0002353	EEG abnormality	5830	PEX5	ORPHA:912
HP:0002353	EEG abnormality	5189	PEX1	ORPHA:44
HP:0002353	EEG abnormality	5189	PEX1	ORPHA:912
HP:0002353	EEG abnormality	5193	PEX12	ORPHA:44
HP:0002353	EEG abnormality	5193	PEX12	ORPHA:912
HP:0002353	EEG abnormality	5194	PEX13	ORPHA:44
HP:0002353	EEG abnormality	5194	PEX13	ORPHA:912
HP:0002353	EEG abnormality	5195	PEX14	ORPHA:44
HP:0002353	EEG abnormality	5195	PEX14	ORPHA:912
HP:0002353	EEG abnormality	5192	PEX10	ORPHA:44
HP:0002353	EEG abnormality	5192	PEX10	ORPHA:912
HP:0002353	EEG abnormality	23007	PLCH1	OMIM:619895
HP:0002353	EEG abnormality	340024	SLC6A19	ORPHA:2116
HP:0002353	EEG abnormality	57393	CLTRN	ORPHA:2116
HP:0002353	EEG abnormality	84168	ANTXR1	OMIM:230740
HP:0002353	EEG abnormality	79641	ROGDI	ORPHA:1946
HP:0002353	EEG abnormality	54413	NLGN3	OMIM:300425
HP:0002353	EEG abnormality	57505	AARS2	OMIM:614096
HP:0002353	EEG abnormality	3658	IREB2	OMIM:618451
HP:0002353	EEG abnormality	58497	PRUNE1	ORPHA:544469
HP:0002353	EEG abnormality	57724	EPG5	ORPHA:1493
HP:0002353	EEG abnormality	6857	SYT1	OMIM:618218
HP:0002353	EEG abnormality	6857	SYT1	ORPHA:522077
HP:0002353	EEG abnormality	92609	TIMM50	ORPHA:505216
HP:0002353	EEG abnormality	79751	SLC25A22	ORPHA:1935
HP:0002353	EEG abnormality	79751	SLC25A22	ORPHA:1934
HP:0002353	EEG abnormality	150094	SIK1	ORPHA:1935
HP:0002353	EEG abnormality	150094	SIK1	ORPHA:1934
HP:0002353	EEG abnormality	3736	KCNA1	ORPHA:1934
HP:0002353	EEG abnormality	9091	PIGQ	ORPHA:1934
HP:0002353	EEG abnormality	2902	GRIN1	ORPHA:1934
HP:0002353	EEG abnormality	2902	GRIN1	OMIM:617820
HP:0002353	EEG abnormality	2902	GRIN1	OMIM:614254
HP:0002353	EEG abnormality	8573	CASK	ORPHA:1934
HP:0002353	EEG abnormality	23312	DMXL2	ORPHA:1934
HP:0002353	EEG abnormality	170302	ARX	ORPHA:1934
HP:0002353	EEG abnormality	170302	ARX	ORPHA:94083
HP:0002353	EEG abnormality	170302	ARX	OMIM:309510
HP:0002353	EEG abnormality	11284	PNKP	ORPHA:1934
HP:0002353	EEG abnormality	4761	NEUROD2	ORPHA:1934
HP:0002353	EEG abnormality	5813	PURA	ORPHA:314655
HP:0002353	EEG abnormality	2068	ERCC2	ORPHA:910
HP:0002353	EEG abnormality	7507	XPA	ORPHA:910
HP:0002353	EEG abnormality	2071	ERCC3	ORPHA:910
HP:0002353	EEG abnormality	7508	XPC	ORPHA:910
HP:0002353	EEG abnormality	1643	DDB2	ORPHA:910
HP:0002353	EEG abnormality	2072	ERCC4	ORPHA:910
HP:0002353	EEG abnormality	2073	ERCC5	ORPHA:910
HP:0002353	EEG abnormality	7187	TRAF3	ORPHA:1930
HP:0002353	EEG abnormality	81622	UNC93B1	ORPHA:1930
HP:0002353	EEG abnormality	148022	TICAM1	ORPHA:1930
HP:0002353	EEG abnormality	7098	TLR3	ORPHA:1930
HP:0002353	EEG abnormality	7098	TLR3	OMIM:613002
HP:0002353	EEG abnormality	435	ASL	ORPHA:23
HP:0002353	EEG abnormality	3155	HMGCL	ORPHA:20
HP:0002353	EEG abnormality	3155	HMGCL	OMIM:246450
HP:0002353	EEG abnormality	4558	MT-TF	ORPHA:550
HP:0002353	EEG abnormality	4572	MT-TQ	ORPHA:550
HP:0002353	EEG abnormality	4512	MT-CO1	ORPHA:550
HP:0002353	EEG abnormality	4513	MT-CO2	ORPHA:550
HP:0002353	EEG abnormality	4514	MT-CO3	ORPHA:550
HP:0002353	EEG abnormality	4578	MT-TW	ORPHA:550
HP:0002353	EEG abnormality	4540	MT-ND5	ORPHA:550
HP:0002353	EEG abnormality	4541	MT-ND6	ORPHA:550
HP:0002353	EEG abnormality	4535	MT-ND1	ORPHA:550
HP:0002353	EEG abnormality	4538	MT-ND4	ORPHA:550
HP:0002353	EEG abnormality	4567	MT-TL1	ORPHA:550
HP:0002353	EEG abnormality	4574	MT-TS1	ORPHA:550
HP:0002353	EEG abnormality	4575	MT-TS2	ORPHA:550
HP:0002353	EEG abnormality	4564	MT-TH	ORPHA:550
HP:0002353	EEG abnormality	8243	SMC1A	OMIM:301044
HP:0002353	EEG abnormality	8243	SMC1A	ORPHA:3095
HP:0002353	EEG abnormality	10785	WDR4	OMIM:618346
HP:0002353	EEG abnormality	10785	WDR4	ORPHA:2065
HP:0002353	EEG abnormality	2290	FOXG1	OMIM:613454
HP:0002353	EEG abnormality	29123	ANKRD11	ORPHA:2332
HP:0002353	EEG abnormality	22854	NTNG1	ORPHA:3095
HP:0002353	EEG abnormality	1387	CREBBP	ORPHA:353281
HP:0002353	EEG abnormality	1387	CREBBP	OMIM:180849
HP:0002353	EEG abnormality	1387	CREBBP	ORPHA:353277
HP:0002353	EEG abnormality	23395	LARS2	OMIM:617021
HP:0002353	EEG abnormality	57520	HECW2	OMIM:617268
HP:0002353	EEG abnormality	8085	KMT2D	ORPHA:2322
HP:0002353	EEG abnormality	7403	KDM6A	ORPHA:2322
HP:0002353	EEG abnormality	2033	EP300	ORPHA:353284
HP:0002353	EEG abnormality	2033	EP300	OMIM:180849
HP:0002353	EEG abnormality	5080	PAX6	ORPHA:137902
HP:0002353	EEG abnormality	1312	COMT	OMIM:181500
HP:0002353	EEG abnormality	23780	APOL2	OMIM:181500
HP:0002353	EEG abnormality	267012	DAOA	OMIM:181500
HP:0002353	EEG abnormality	3356	HTR2A	OMIM:181500
HP:0002353	EEG abnormality	6854	SYN2	OMIM:181500
HP:0002353	EEG abnormality	1814	DRD3	OMIM:181500
HP:0002353	EEG abnormality	4524	MTHFR	OMIM:181500
HP:0002353	EEG abnormality	27184	DISC2	OMIM:181500
HP:0002353	EEG abnormality	65078	RTN4R	OMIM:181500
HP:0002353	EEG abnormality	80832	APOL4	OMIM:181500
HP:0002353	EEG abnormality	1116	CHI3L1	OMIM:181500
HP:0002353	EEG abnormality	4952	OCRL	ORPHA:534
HP:0002353	EEG abnormality	2067	ERCC1	OMIM:610758
HP:0002353	EEG abnormality	4948	OCA2	ORPHA:98794
HP:0002353	EEG abnormality	1725	DHPS	OMIM:618480
HP:0002353	EEG abnormality	3192	HNRNPU	OMIM:617391
HP:0002353	EEG abnormality	84340	GFM2	ORPHA:565624
HP:0002353	EEG abnormality	4704	NDUFA9	OMIM:618247
HP:0002353	EEG abnormality	23511	NUP188	OMIM:618804
HP:0002353	EEG abnormality	201163	FLCN	OMIM:610883
HP:0002353	EEG abnormality	5604	MAP2K1	ORPHA:1340
HP:0002353	EEG abnormality	5605	MAP2K2	ORPHA:1340
HP:0002353	EEG abnormality	673	BRAF	ORPHA:1340
HP:0002353	EEG abnormality	23258	DENND5A	OMIM:617281
HP:0002353	EEG abnormality	114548	NLRP3	ORPHA:1451
HP:0002353	EEG abnormality	6611	SMS	ORPHA:3063
HP:0002353	EEG abnormality	8943	AP3D1	OMIM:617050
HP:0002353	EEG abnormality	51241	COX16	OMIM:619355
HP:0002353	EEG abnormality	57003	CCDC47	OMIM:618268
HP:0002353	EEG abnormality	259232	NALCN	ORPHA:371364
HP:0002353	EEG abnormality	285175	UNC80	ORPHA:371364
HP:0002353	EEG abnormality	526	ATP6V1B2	ORPHA:79500
HP:0002353	EEG abnormality	7343	UBTF	ORPHA:500180
HP:0002353	EEG abnormality	151	ADRA2B	ORPHA:86814
HP:0002353	EEG abnormality	55689	YEATS2	ORPHA:86814
HP:0002353	EEG abnormality	1501	CTNND2	ORPHA:86814
HP:0002353	EEG abnormality	10299	MARCHF6	ORPHA:86814
HP:0002353	EEG abnormality	8567	MADD	OMIM:619004
HP:0002353	EEG abnormality	8567	MADD	OMIM:619005
HP:0002353	EEG abnormality	10319	LAMC3	OMIM:614115
HP:0002353	EEG abnormality	8450	CUL4B	ORPHA:85293
HP:0002353	EEG abnormality	5625	PRODH	OMIM:239500
HP:0002353	EEG abnormality	3516	RBPJ	ORPHA:974
HP:0002353	EEG abnormality	4851	NOTCH1	ORPHA:974
HP:0002353	EEG abnormality	57514	ARHGAP31	ORPHA:974
HP:0002353	EEG abnormality	57572	DOCK6	ORPHA:974
HP:0002353	EEG abnormality	285203	EOGT	ORPHA:974
HP:0002353	EEG abnormality	54567	DLL4	ORPHA:974
HP:0002353	EEG abnormality	617	BCS1L	OMIM:124000
HP:0002353	EEG abnormality	84628	NTNG2	OMIM:618718
HP:0002353	EEG abnormality	3756	KCNH1	ORPHA:420561
HP:0002353	EEG abnormality	3090	HIC1	ORPHA:531
HP:0002353	EEG abnormality	5048	PAFAH1B1	ORPHA:531
HP:0002353	EEG abnormality	7531	YWHAE	ORPHA:531
HP:0002353	EEG abnormality	57502	NLGN4X	OMIM:300495
HP:0002353	EEG abnormality	84295	PHF6	OMIM:301900
HP:0002353	EEG abnormality	54802	TRIT1	OMIM:617873
HP:0002353	EEG abnormality	777	CACNA1E	OMIM:618285
HP:0002353	EEG abnormality	5538	PPT1	OMIM:256730
HP:0002353	EEG abnormality	1968	EIF2S3	ORPHA:85282
HP:0002353	EEG abnormality	57731	SPTBN4	OMIM:617519
HP:0002353	EEG abnormality	4693	NDP	ORPHA:649
HP:0002353	EEG abnormality	1496	CTNNA2	OMIM:618174
HP:0002353	EEG abnormality	7305	TYROBP	OMIM:221770
HP:0002353	EEG abnormality	51002	TPRKB	ORPHA:2065
HP:0002353	EEG abnormality	84942	WDR73	ORPHA:2065
HP:0002353	EEG abnormality	55644	OSGEP	ORPHA:2065
HP:0002353	EEG abnormality	57122	NUP107	ORPHA:2065
HP:0002353	EEG abnormality	55746	NUP133	ORPHA:2065
HP:0002353	EEG abnormality	112858	TP53RK	ORPHA:2065
HP:0002353	EEG abnormality	8270	LAGE3	ORPHA:2065
HP:0002353	EEG abnormality	57194	ATP10A	ORPHA:411515
HP:0002353	EEG abnormality	29968	PSAT1	ORPHA:284417
HP:0002353	EEG abnormality	84720	PIGO	ORPHA:247262
HP:0002353	EEG abnormality	93210	PGAP3	ORPHA:247262
HP:0002353	EEG abnormality	284098	PIGW	ORPHA:247262
HP:0002353	EEG abnormality	27315	PGAP2	ORPHA:247262
HP:0002353	EEG abnormality	55650	PIGV	ORPHA:247262
HP:0002353	EEG abnormality	9487	PIGL	ORPHA:247262
HP:0002353	EEG abnormality	10297	APC2	OMIM:617169
HP:0002353	EEG abnormality	3747	KCNC2	OMIM:619913
HP:0002353	EEG abnormality	60482	SLC5A7	ORPHA:98914
HP:0002353	EEG abnormality	4649	MYO9A	ORPHA:98914
HP:0002353	EEG abnormality	1305	COL13A1	ORPHA:98914
HP:0002353	EEG abnormality	1103	CHAT	ORPHA:98914
HP:0002353	EEG abnormality	6576	SLC25A1	ORPHA:98914
HP:0002353	EEG abnormality	6843	VAMP1	ORPHA:98914
HP:0002353	EEG abnormality	375790	AGRN	ORPHA:98914
HP:0002353	EEG abnormality	127833	SYT2	ORPHA:98914
HP:0002353	EEG abnormality	6572	SLC18A3	ORPHA:98914
HP:0002353	EEG abnormality	6616	SNAP25	ORPHA:98914
HP:0002353	EEG abnormality	1181	CLCN2	ORPHA:307
HP:0002353	EEG abnormality	22858	CILK1	ORPHA:307
HP:0002353	EEG abnormality	785	CACNB4	ORPHA:307
HP:0002353	EEG abnormality	785	CACNB4	OMIM:607682
HP:0002353	EEG abnormality	9289	ADGRG1	ORPHA:98889
HP:0002353	EEG abnormality	5297	PI4KA	ORPHA:98889
HP:0002353	EEG abnormality	144165	PRICKLE1	ORPHA:308
HP:0002353	EEG abnormality	950	SCARB2	ORPHA:308
HP:0002353	EEG abnormality	199857	ALG14	OMIM:619036
HP:0002353	EEG abnormality	343450	KCNT2	OMIM:617771
HP:0002353	EEG abnormality	10564	ARFGEF2	OMIM:608097
HP:0002353	EEG abnormality	9526	MPDU1	OMIM:609180
HP:0002353	EEG abnormality	9526	MPDU1	ORPHA:79323
HP:0002353	EEG abnormality	8496	PPFIBP1	OMIM:620024
HP:0002353	EEG abnormality	51112	TRAPPC12	ORPHA:500144
HP:0002353	EEG abnormality	51112	TRAPPC12	OMIM:617669
HP:0002353	EEG abnormality	26275	HIBCH	ORPHA:88639
HP:0002353	EEG abnormality	79868	ALG13	OMIM:300884
HP:0002353	EEG abnormality	79868	ALG13	ORPHA:324422
HP:0002353	EEG abnormality	51506	UFC1	OMIM:618076
HP:0002353	EEG abnormality	6487	ST3GAL3	OMIM:615006
HP:0002353	EEG abnormality	6487	ST3GAL3	ORPHA:3451
HP:0002353	EEG abnormality	112939	NACC1	ORPHA:500545
HP:0002353	EEG abnormality	55780	ERMARD	ORPHA:75857
HP:0002353	EEG abnormality	55780	ERMARD	OMIM:615544
HP:0002353	EEG abnormality	3767	KCNJ11	ORPHA:79134
HP:0002353	EEG abnormality	3767	KCNJ11	OMIM:618856
HP:0002353	EEG abnormality	79731	NARS2	ORPHA:79134
HP:0002353	EEG abnormality	4763	NF1	OMIM:162200
HP:0002353	EEG abnormality	2560	GABRB1	OMIM:617153
HP:0002353	EEG abnormality	535	ATP6V0A1	OMIM:619970
HP:0002353	EEG abnormality	6709	SPTAN1	OMIM:613477
HP:0002353	EEG abnormality	6709	SPTAN1	ORPHA:3451
HP:0002353	EEG abnormality	7965	AIMP2	OMIM:618006
HP:0002353	EEG abnormality	3054	HCFC1	OMIM:309541
HP:0002353	EEG abnormality	9361	LONP1	ORPHA:79243
HP:0002353	EEG abnormality	5160	PDHA1	ORPHA:79243
HP:0002353	EEG abnormality	5805	PTS	ORPHA:13
HP:0002353	EEG abnormality	1327	COX4I1	OMIM:619060
HP:0002353	EEG abnormality	25930	PTPN23	OMIM:618890
HP:0002353	EEG abnormality	5277	PIGA	OMIM:300868
HP:0002353	EEG abnormality	5277	PIGA	ORPHA:3451
HP:0002353	EEG abnormality	23327	NEDD4L	OMIM:617201
HP:0002353	EEG abnormality	1822	ATN1	OMIM:618494
HP:0002353	EEG abnormality	132158	GLYCTK	OMIM:220120
HP:0002353	EEG abnormality	84896	ATAD1	OMIM:618011
HP:0002353	EEG abnormality	1641	DCX	ORPHA:2148
HP:0002353	EEG abnormality	284184	NDUFAF8	OMIM:618776
HP:0002353	EEG abnormality	149371	EXOC8	OMIM:619076
HP:0002353	EEG abnormality	6812	STXBP1	OMIM:612164
HP:0002353	EEG abnormality	55699	IARS2	OMIM:616007
HP:0002353	EEG abnormality	8452	CUL3	OMIM:619239
HP:0002353	EEG abnormality	116115	ZNF526	OMIM:619877
HP:0002353	EEG abnormality	538	ATP7A	OMIM:309400
HP:0002353	EEG abnormality	378884	NHLRC1	ORPHA:501
HP:0002353	EEG abnormality	7957	EPM2A	ORPHA:501
HP:0002353	EEG abnormality	85365	ALG2	ORPHA:79326
HP:0002353	EEG abnormality	85365	ALG2	OMIM:607906
HP:0002353	EEG abnormality	4247	MGAT2	ORPHA:79329
HP:0002353	EEG abnormality	728294	D2HGDH	OMIM:600721
HP:0002353	EEG abnormality	2571	GAD1	OMIM:619124
HP:0002353	EEG abnormality	60558	GUF1	OMIM:617065
HP:0002353	EEG abnormality	60558	GUF1	ORPHA:3451
HP:0002353	EEG abnormality	51124	IER3IP1	OMIM:614231
HP:0002353	EEG abnormality	26227	PHGDH	OMIM:601815
HP:0002353	EEG abnormality	7358	UGDH	OMIM:618792
HP:0002353	EEG abnormality	4190	MDH1	OMIM:618959
HP:0002353	EEG abnormality	9373	PLAA	ORPHA:521426
HP:0002353	EEG abnormality	55704	CCDC88A	OMIM:617507
HP:0002353	EEG abnormality	9440	MED17	OMIM:613668
HP:0002353	EEG abnormality	221692	PHACTR1	ORPHA:3451
HP:0002353	EEG abnormality	221692	PHACTR1	OMIM:618298
HP:0002353	EEG abnormality	10695	CNPY3	ORPHA:3451
HP:0002353	EEG abnormality	10695	CNPY3	OMIM:617929
HP:0002353	EEG abnormality	23236	PLCB1	ORPHA:3451
HP:0002353	EEG abnormality	23236	PLCB1	OMIM:613722
HP:0002353	EEG abnormality	11152	WDR45	ORPHA:3451
HP:0002353	EEG abnormality	10681	GNB5	ORPHA:542306
HP:0002353	EEG abnormality	55739	NAXD	OMIM:618321
HP:0002353	EEG abnormality	440	ASNS	OMIM:615574
HP:0002353	EEG abnormality	79718	TBL1XR1	OMIM:616944
HP:0002353	EEG abnormality	51294	PCDH12	OMIM:251280
HP:0002353	EEG abnormality	64116	SLC39A8	ORPHA:468699
HP:0002353	EEG abnormality	6509	SLC1A4	ORPHA:447997
HP:0002353	EEG abnormality	2801	GOLGA2	OMIM:620240
HP:0002353	EEG abnormality	10195	ALG3	OMIM:601110
HP:0002353	EEG abnormality	51733	UPB1	OMIM:613161
HP:0002353	EEG abnormality	7040	TGFB1	OMIM:618213
HP:0002353	EEG abnormality	55753	OGDHL	OMIM:619701
HP:0002353	EEG abnormality	1203	CLN5	ORPHA:228360
HP:0002353	EEG abnormality	443	ASPA	OMIM:271900
HP:0002353	EEG abnormality	2775	GNAO1	OMIM:617493
HP:0002353	EEG abnormality	51604	PIGT	OMIM:615398
HP:0002353	EEG abnormality	51604	PIGT	ORPHA:369837
HP:0002353	EEG abnormality	8913	CACNA1G	OMIM:618087
HP:0002353	EEG abnormality	8218	CLTCL1	ORPHA:453510
HP:0002353	EEG abnormality	6711	SPTBN1	OMIM:619475
HP:0002353	EEG abnormality	5530	PPP3CA	OMIM:617711
HP:0002353	EEG abnormality	51227	PIGP	OMIM:617599
HP:0002353	EEG abnormality	132	ADK	OMIM:614300
HP:0002353	EEG abnormality	51412	ACTL6B	OMIM:618468
HP:0002353	EEG abnormality	85440	DOCK7	ORPHA:411986
HP:0002353	EEG abnormality	22845	DOLK	ORPHA:91131
HP:0002353	EEG abnormality	23389	MED13L	ORPHA:369891
HP:0002353	EEG abnormality	6335	SCN9A	ORPHA:33069
HP:0002353	EEG abnormality	6326	SCN2A	ORPHA:33069
HP:0002353	EEG abnormality	6324	SCN1B	ORPHA:33069
HP:0002353	EEG abnormality	57526	PCDH19	ORPHA:33069
HP:0002353	EEG abnormality	10128	LRPPRC	ORPHA:70472
HP:0002353	EEG abnormality	501	ALDH7A1	ORPHA:3006
HP:0002353	EEG abnormality	11212	PLPBP	ORPHA:3006
HP:0002353	EEG abnormality	8131	NPRL3	ORPHA:98820
HP:0002353	EEG abnormality	10641	NPRL2	ORPHA:98820
HP:0002353	EEG abnormality	9681	DEPDC5	ORPHA:98820
HP:0002353	EEG abnormality	6821	SUOX	OMIM:272300
HP:0002353	EEG abnormality	4615	MYD88	ORPHA:33226
HP:0002353	EEG abnormality	6792	CDKL5	ORPHA:505652
HP:0002353	EEG abnormality	1468	SLC25A10	OMIM:618972
HP:0002353	EEG abnormality	79587	CARS2	OMIM:616672
HP:0002353	EEG abnormality	2257	FGF12	OMIM:617166
HP:0002353	EEG abnormality	2782	GNB1	ORPHA:488613
HP:0002353	EEG abnormality	2782	GNB1	OMIM:616973
HP:0002353	EEG abnormality	1106	CHD2	OMIM:615369
HP:0002353	EEG abnormality	1806	DPYD	ORPHA:1675
HP:0002353	EEG abnormality	478	ATP1A3	OMIM:619606
HP:0002353	EEG abnormality	7280	TUBB2A	OMIM:615763
HP:0002353	EEG abnormality	6334	SCN8A	OMIM:614558
HP:0002353	EEG abnormality	10565	ARFGEF1	OMIM:619964
HP:0002353	EEG abnormality	6304	SATB1	OMIM:619229
HP:0002353	EEG abnormality	9568	GABBR2	OMIM:617904
HP:0002353	EEG abnormality	56052	ALG1	OMIM:608540
HP:0002353	EEG abnormality	8869	ST3GAL5	OMIM:609056
HP:0002353	EEG abnormality	1759	DNM1	ORPHA:442835
HP:0002353	EEG abnormality	8120	AP3B2	ORPHA:442835
HP:0002353	EEG abnormality	523	ATP6V1A	ORPHA:442835
HP:0002353	EEG abnormality	10991	SLC38A3	ORPHA:442835
HP:0002353	EEG abnormality	51343	FZR1	ORPHA:442835
HP:0002353	EEG abnormality	22906	TRAK1	ORPHA:442835
HP:0002353	EEG abnormality	1917	EEF1A2	ORPHA:442835
HP:0002353	EEG abnormality	2561	GABRB2	ORPHA:442835
HP:0002353	EEG abnormality	7532	YWHAG	ORPHA:442835
HP:0002353	EEG abnormality	79876	UBA5	ORPHA:442835
HP:0002353	EEG abnormality	6328	SCN3A	ORPHA:442835
HP:0002353	EEG abnormality	2558	GABRA5	ORPHA:442835
HP:0002353	EEG abnormality	781	CACNA2D1	ORPHA:442835
HP:0002353	EEG abnormality	2906	GRIN2D	ORPHA:442835
HP:0002353	EEG abnormality	116150	NUS1	ORPHA:442835
HP:0002353	EEG abnormality	10659	CELF2	ORPHA:442835
HP:0002353	EEG abnormality	774	CACNA1B	ORPHA:442835
HP:0002353	EEG abnormality	1213	CLTC	ORPHA:442835
HP:0002353	EEG abnormality	51741	WWOX	ORPHA:442835
HP:0002353	EEG abnormality	23334	SZT2	ORPHA:442835
HP:0002353	EEG abnormality	348980	HCN1	ORPHA:442835
HP:0002353	EEG abnormality	6506	SLC1A2	ORPHA:442835
HP:0002353	EEG abnormality	8867	SYNJ1	ORPHA:442835
HP:0002353	EEG abnormality	2258	FGF13	ORPHA:442835
HP:0002353	EEG abnormality	477	ATP1A2	ORPHA:442835
HP:0002353	EEG abnormality	3745	KCNB1	ORPHA:442835
HP:0002353	EEG abnormality	284111	SLC13A5	ORPHA:442835
HP:0002353	EEG abnormality	25977	NECAP1	ORPHA:442835
HP:0002353	EEG abnormality	16	AARS1	ORPHA:442835
HP:0002353	EEG abnormality	22866	CNKSR2	ORPHA:442835
HP:0002353	EEG abnormality	2555	GABRA2	ORPHA:442835
HP:0002353	EEG abnormality	55152	DALRD3	ORPHA:442835
HP:0002353	EEG abnormality	773	CACNA1A	ORPHA:442835
HP:0002353	EEG abnormality	26999	CYFIP2	ORPHA:442835
HP:0002353	EEG abnormality	4915	NTRK2	ORPHA:442835
HP:0002353	EEG abnormality	25973	PARS2	ORPHA:442835
HP:0002353	EEG abnormality	23097	CDK19	ORPHA:442835
HP:0002353	EEG abnormality	64801	ARV1	ORPHA:442835
HP:0002353	EEG abnormality	79947	DHDDS	ORPHA:442835
HP:0002353	EEG abnormality	84992	PIGY	OMIM:616809
HP:0002353	EEG abnormality	2903	GRIN2A	ORPHA:289266
HP:0002353	EEG abnormality	1798	DPAGT1	ORPHA:86309
HP:0002353	EEG abnormality	11133	KPTN	ORPHA:397612
HP:0002353	EEG abnormality	4204	MECP2	OMIM:300055
HP:0002353	EEG abnormality	283987	HID1	OMIM:619983
HP:0002353	EEG abnormality	10588	MTHFS	OMIM:618367
HP:0002353	EEG abnormality	2893	GRIA4	OMIM:617864
HP:0002353	EEG abnormality	1593	CYP27A1	OMIM:213700
HP:0002353	EEG abnormality	11342	RNF13	ORPHA:544503
HP:0002353	EEG abnormality	4001	LMNB1	ORPHA:99027
HP:0002353	EEG abnormality	8831	SYNGAP1	ORPHA:1942
HP:0002353	EEG abnormality	1173	AP2M1	ORPHA:1942
HP:0002353	EEG abnormality	340533	NEXMIF	ORPHA:1942
HP:0002353	EEG abnormality	6529	SLC6A1	ORPHA:1942
HP:0002353	EEG abnormality	26047	CNTNAP2	ORPHA:163681
HP:0002353	EEG abnormality	5621	PRNP	ORPHA:282166
HP:0002353	EEG abnormality	2581	GALC	ORPHA:206443
HP:0002353	EEG abnormality	6513	SLC2A1	ORPHA:64280
HP:0002353	EEG abnormality	2562	GABRB3	ORPHA:64280
HP:0002353	EEG abnormality	2554	GABRA1	ORPHA:64280
HP:0002353	EEG abnormality	8912	CACNA1H	ORPHA:64280
HP:0002353	EEG abnormality	8629	JRK	ORPHA:64280
HP:0002353	EEG abnormality	3737	KCNA2	OMIM:616366
HP:0002353	EEG abnormality	23067	SETD1B	OMIM:619000
HP:0002353	EEG abnormality	6323	SCN1A	OMIM:619317
HP:0002353	EEG abnormality	3778	KCNMA1	OMIM:609446
HP:0002353	EEG abnormality	3778	KCNMA1	ORPHA:79137
HP:0002353	EEG abnormality	114327	EFHC1	OMIM:607631
HP:0002353	EEG abnormality	2566	GABRG2	OMIM:607681
HP:0002353	EEG abnormality	10157	AASS	ORPHA:2203
HP:0002353	EEG abnormality	57094	CPA6	OMIM:614417
HP:0002353	EEG abnormality	112755	STX1B	ORPHA:36387
HP:0002353	EEG abnormality	84059	ADGRV1	ORPHA:36387
HP:0002353	EEG abnormality	51422	PRKAG2	OMIM:261740
HP:0002353	EEG abnormality	1020	CDK5	OMIM:616342
HP:0002353	EEG abnormality	94005	PIGS	OMIM:618143
HP:0002353	EEG abnormality	8818	DPM2	ORPHA:329178
HP:0002353	EEG abnormality	708	C1QBP	OMIM:617713
HP:0002353	EEG abnormality	2744	GLS	OMIM:618328
HP:0002353	EEG abnormality	7841	MOGS	OMIM:606056
HP:0002353	EEG abnormality	57176	VARS2	OMIM:615917
HP:0002353	EEG abnormality	7707	ZNF148	OMIM:617260
HP:0002353	EEG abnormality	440138	ALG11	ORPHA:280071
HP:0002353	EEG abnormality	91137	SLC25A46	OMIM:619303
HP:0002353	EEG abnormality	18	ABAT	OMIM:613163
HP:0002353	EEG abnormality	4905	NSF	OMIM:619340
HP:0002353	EEG abnormality	1785	DNM2	OMIM:615368
HP:0002353	EEG abnormality	221927	BRAT1	OMIM:614498
HP:0002353	EEG abnormality	55163	PNPO	ORPHA:79096
HP:0002353	EEG abnormality	23219	FBXO28	OMIM:619777
HP:0002353	EEG abnormality	55164	SHQ1	OMIM:619922
HP:0002353	EEG abnormality	10715	CERS1	OMIM:616230
HP:0002353	EEG abnormality	26960	NBEA	OMIM:619157
HP:0002353	EEG abnormality	2892	GRIA3	OMIM:300699
HP:0002353	EEG abnormality	104	ADARB1	OMIM:618862
HP:0002353	EEG abnormality	92335	STRADA	ORPHA:500533
HP:0002353	EEG abnormality	2890	GRIA1	OMIM:619931
HP:0002353	EEG abnormality	2917	GRM7	OMIM:618922
HP:0002353	EEG abnormality	23732	FRRS1L	ORPHA:725
HP:0002353	EEG abnormality	112476	PRRT2	ORPHA:306
HP:0002353	EEG abnormality	3785	KCNQ2	ORPHA:306
HP:0002353	EEG abnormality	3786	KCNQ3	ORPHA:306
HP:0002353	EEG abnormality	9570	GOSR2	OMIM:620166
HP:0002353	EEG abnormality	84081	NSRP1	OMIM:620001
HP:0002353	EEG abnormality	815	CAMK2A	OMIM:618095
HP:0002353	EEG abnormality	1137	CHRNA4	ORPHA:98784
HP:0002353	EEG abnormality	1135	CHRNA2	ORPHA:98784
HP:0002353	EEG abnormality	57010	CABP4	ORPHA:98784
HP:0002353	EEG abnormality	1141	CHRNB2	ORPHA:98784
HP:0002353	EEG abnormality	57582	KCNT1	ORPHA:98784
HP:0002353	EEG abnormality	1392	CRH	ORPHA:98784
HP:0002353	EEG abnormality	10479	SLC9A6	OMIM:300243
HP:0002353	EEG abnormality	6833	ABCC8	OMIM:618857
HP:0002353	EEG abnormality	10844	TUBGCP2	OMIM:618737
HP:0002353	EEG abnormality	6900	CNTN2	OMIM:615400
HP:0002353	EEG abnormality	7407	VARS1	OMIM:617802
HP:0002353	EEG abnormality	1476	CSTB	OMIM:254800
HP:0002353	EEG abnormality	9990	SLC12A6	OMIM:218000
HP:0002353	EEG abnormality	4131	MAP1B	OMIM:618918
HP:0002353	EEG abnormality	154881	KCTD7	ORPHA:263516
HP:0002353	EEG abnormality	7337	UBE3A	ORPHA:98795
HP:0002353	EEG abnormality	5649	RELN	ORPHA:101046
HP:0002353	EEG abnormality	9211	LGI1	ORPHA:101046
HP:0002353	EEG abnormality	284058	KANSL1	ORPHA:363965
HP:0002353	EEG abnormality	284058	KANSL1	ORPHA:363958
HP:0002353	EEG abnormality	54681	P4HTM	OMIM:618493
HP:0002353	EEG abnormality	7355	SLC35A2	ORPHA:356961
HP:0002353	EEG abnormality	5631	PRPS1	ORPHA:1187
HP:0002353	EEG abnormality	57107	PDSS2	ORPHA:255249
HP:0002353	EEG abnormality	27235	COQ2	ORPHA:255249
HP:0002353	EEG abnormality	54872	PIGG	ORPHA:488635
HP:0002353	EEG abnormality	54872	PIGG	OMIM:616917
HP:0002353	EEG abnormality	1183	CLCN4	ORPHA:485350
HP:0002353	EEG abnormality	10730	YME1L1	OMIM:617302
HP:0002353	EEG abnormality	1605	DAG1	ORPHA:370997
HP:0002353	EEG abnormality	25814	ATXN10	ORPHA:98761
HP:0002353	EEG abnormality	2746	GLUD1	ORPHA:35878
HP:0002353	EEG abnormality	3746	KCNC1	OMIM:616187
HP:0002353	EEG abnormality	55367	PIDD1	OMIM:619827
HP:0002353	EEG abnormality	93627	TBCK	ORPHA:488632
HP:0002353	EEG abnormality	8659	ALDH4A1	ORPHA:79101
HP:0002353	EEG abnormality	5354	PLP1	ORPHA:280219
HP:0002353	EEG abnormality	25978	CHMP2B	ORPHA:275864
HP:0002353	EEG abnormality	25978	CHMP2B	ORPHA:100070
HP:0002353	EEG abnormality	5663	PSEN1	ORPHA:275864
HP:0002353	EEG abnormality	5663	PSEN1	ORPHA:100070
HP:0002353	EEG abnormality	2896	GRN	ORPHA:275864
HP:0002353	EEG abnormality	2896	GRN	ORPHA:100070
HP:0002353	EEG abnormality	54664	TMEM106B	ORPHA:275864
HP:0002353	EEG abnormality	54664	TMEM106B	ORPHA:100070
HP:0002353	EEG abnormality	8878	SQSTM1	ORPHA:275864
HP:0002353	EEG abnormality	4137	MAPT	ORPHA:275864
HP:0002353	EEG abnormality	4137	MAPT	ORPHA:100070
HP:0002353	EEG abnormality	7415	VCP	ORPHA:275864
HP:0002353	EEG abnormality	7415	VCP	ORPHA:100070
HP:0002353	EEG abnormality	5290	PIK3CA	ORPHA:99802
HP:0002353	EEG abnormality	2475	MTOR	ORPHA:99802
HP:0002353	EEG abnormality	10000	AKT3	ORPHA:99802
HP:0002353	EEG abnormality	7030	TFE3	OMIM:301066
HP:0002353	EEG abnormality	23229	ARHGEF9	ORPHA:163985
HP:0002353	EEG abnormality	80036	TRPM3	OMIM:620224
HP:0002353	EEG abnormality	6134	RPL10	ORPHA:459070
HP:0002353	EEG abnormality	81603	TRIM8	OMIM:619428
HP:0002353	EEG abnormality	23102	TBC1D2B	OMIM:619323
HP:0006844	Absent patellar reflexes	5700	PSMC1	OMIM:620071
HP:0006844	Absent patellar reflexes	59345	GNB4	OMIM:615185
HP:0006844	Absent patellar reflexes	55958	KLHL9	ORPHA:399081
HP:0006844	Absent patellar reflexes	5375	PMP2	OMIM:618279
HP:0006844	Absent patellar reflexes	10516	FBLN5	OMIM:619764
HP:0006844	Absent patellar reflexes	3977	LIFR	OMIM:601559
HP:0006844	Absent patellar reflexes	3977	LIFR	ORPHA:3206
HP:0006844	Absent patellar reflexes	10613	ERLIN1	OMIM:615681
HP:0006844	Absent patellar reflexes	8988	HSPB3	OMIM:613376
HP:0006844	Absent patellar reflexes	7453	WARS1	OMIM:617721
HP:0006844	Absent patellar reflexes	79784	MYH14	OMIM:614369
HP:0006844	Absent patellar reflexes	9927	MFN2	ORPHA:99947
HP:0006844	Absent patellar reflexes	6606	SMN1	OMIM:253400
HP:0006844	Absent patellar reflexes	6607	SMN2	OMIM:253400
HP:0006846	Acute encephalopathy	6584	SLC22A5	ORPHA:158
HP:0006846	Acute encephalopathy	95	ACY1	OMIM:609924
HP:0006846	Acute encephalopathy	5903	RANBP2	ORPHA:88619
HP:0006846	Acute encephalopathy	745	MYRF	OMIM:618113
HP:0006846	Acute encephalopathy	58472	SQOR	OMIM:619221
HP:0006846	Acute encephalopathy	84342	COG8	ORPHA:95428
HP:0006846	Acute encephalopathy	498	ATP5F1A	OMIM:620358
HP:0006846	Acute encephalopathy	7187	TRAF3	OMIM:614849
HP:0006846	Acute encephalopathy	10166	SLC25A15	ORPHA:415
HP:0006846	Acute encephalopathy	10166	SLC25A15	OMIM:238970
HP:0006846	Acute encephalopathy	5095	PCCA	OMIM:606054
HP:0006846	Acute encephalopathy	5096	PCCB	OMIM:606054
HP:0006846	Acute encephalopathy	4724	NDUFS4	OMIM:252010
HP:0001605	Vocal cord paralysis	9361	LONP1	OMIM:600373
HP:0001605	Vocal cord paralysis	54332	GDAP1	OMIM:607706
HP:0001605	Vocal cord paralysis	54332	GDAP1	ORPHA:99948
HP:0001605	Vocal cord paralysis	54332	GDAP1	ORPHA:101097
HP:0001605	Vocal cord paralysis	182	JAG1	OMIM:619574
HP:0001605	Vocal cord paralysis	57716	PRX	OMIM:614895
HP:0001605	Vocal cord paralysis	59341	TRPV4	OMIM:606071
HP:0001605	Vocal cord paralysis	79628	SH3TC2	ORPHA:99949
HP:0001605	Vocal cord paralysis	9782	MATR3	ORPHA:600
HP:0001605	Vocal cord paralysis	10755	GIPC1	ORPHA:98897
HP:0001605	Vocal cord paralysis	100996717	NOTCH2NLC	ORPHA:98897
HP:0001605	Vocal cord paralysis	5376	PMP22	OMIM:162500
HP:0001605	Vocal cord paralysis	5376	PMP22	ORPHA:640
HP:0001605	Vocal cord paralysis	7125	TNNC2	OMIM:620161
HP:0001605	Vocal cord paralysis	60482	SLC5A7	OMIM:158580
HP:0001605	Vocal cord paralysis	79784	MYH14	ORPHA:397744
HP:0001605	Vocal cord paralysis	23321	TRIM2	OMIM:615490
HP:0001605	Vocal cord paralysis	112	ADCY6	OMIM:616287
HP:0001605	Vocal cord paralysis	22943	DKK1	ORPHA:268882
HP:0001605	Vocal cord paralysis	816	CAMK2B	OMIM:617799
HP:0001605	Vocal cord paralysis	7428	VHL	ORPHA:29072
HP:0001605	Vocal cord paralysis	7428	VHL	ORPHA:276621
HP:0001605	Vocal cord paralysis	1743	DLST	ORPHA:29072
HP:0001605	Vocal cord paralysis	4191	MDH2	ORPHA:29072
HP:0001605	Vocal cord paralysis	5979	RET	ORPHA:29072
HP:0001605	Vocal cord paralysis	5979	RET	ORPHA:276621
HP:0001605	Vocal cord paralysis	6389	SDHA	ORPHA:29072
HP:0001605	Vocal cord paralysis	23095	KIF1B	ORPHA:29072
HP:0001605	Vocal cord paralysis	2271	FH	ORPHA:29072
HP:0001605	Vocal cord paralysis	8402	SLC25A11	ORPHA:29072
HP:0001605	Vocal cord paralysis	54949	SDHAF2	ORPHA:29072
HP:0001605	Vocal cord paralysis	54949	SDHAF2	OMIM:601650
HP:0001605	Vocal cord paralysis	55654	TMEM127	ORPHA:29072
HP:0001605	Vocal cord paralysis	4763	NF1	ORPHA:29072
HP:0001605	Vocal cord paralysis	6391	SDHC	ORPHA:29072
HP:0001605	Vocal cord paralysis	6391	SDHC	OMIM:605373
HP:0001605	Vocal cord paralysis	6392	SDHD	ORPHA:29072
HP:0001605	Vocal cord paralysis	6392	SDHD	ORPHA:276621
HP:0001605	Vocal cord paralysis	6392	SDHD	OMIM:168000
HP:0001605	Vocal cord paralysis	6390	SDHB	ORPHA:29072
HP:0001605	Vocal cord paralysis	6390	SDHB	ORPHA:276621
HP:0001605	Vocal cord paralysis	4149	MAX	ORPHA:29072
HP:0001605	Vocal cord paralysis	1639	DCTN1	OMIM:607641
HP:0001605	Vocal cord paralysis	1788	DNMT3A	ORPHA:276621
HP:0001605	Vocal cord paralysis	2034	EPAS1	ORPHA:276621
HP:0001605	Vocal cord paralysis	81846	SBF2	ORPHA:99956
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276244
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276241
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276238
HP:0001605	Vocal cord paralysis	2273	FHL1	ORPHA:98863
HP:0001605	Vocal cord paralysis	2010	EMD	ORPHA:98863
HP:0001605	Vocal cord paralysis	51112	TRAPPC12	ORPHA:500144
HP:0001605	Vocal cord paralysis	374879	ZNF699	OMIM:619488
HP:0001605	Vocal cord paralysis	4613	MYCN	OMIM:164280
HP:0001605	Vocal cord paralysis	113278	SLC52A3	OMIM:211530
HP:0001605	Vocal cord paralysis	9927	MFN2	ORPHA:99947
HP:0001605	Vocal cord paralysis	51085	MLXIPL	OMIM:194050
HP:0001605	Vocal cord paralysis	2006	ELN	OMIM:194050
HP:0001605	Vocal cord paralysis	26040	SETBP1	ORPHA:798
HP:0001605	Vocal cord paralysis	79188	TMEM43	ORPHA:98853
HP:0001605	Vocal cord paralysis	23345	SYNE1	ORPHA:98853
HP:0001605	Vocal cord paralysis	23224	SYNE2	ORPHA:98853
HP:0001605	Vocal cord paralysis	4000	LMNA	ORPHA:98853
HP:0001605	Vocal cord paralysis	5422	POLA1	OMIM:301030
HP:0001605	Vocal cord paralysis	23498	HAAO	OMIM:617660
HP:0001605	Vocal cord paralysis	667	DST	OMIM:614653
HP:0002514	Cerebral calcification	2074	ERCC6	OMIM:214150
HP:0002514	Cerebral calcification	2074	ERCC6	OMIM:133540
HP:0002514	Cerebral calcification	2074	ERCC6	ORPHA:90324
HP:0002514	Cerebral calcification	2074	ERCC6	ORPHA:90321
HP:0002514	Cerebral calcification	2074	ERCC6	OMIM:278800
HP:0002514	Cerebral calcification	4558	MT-TF	ORPHA:550
HP:0002514	Cerebral calcification	4572	MT-TQ	ORPHA:550
HP:0002514	Cerebral calcification	4512	MT-CO1	ORPHA:550
HP:0002514	Cerebral calcification	4513	MT-CO2	ORPHA:550
HP:0002514	Cerebral calcification	4514	MT-CO3	ORPHA:550
HP:0002514	Cerebral calcification	4578	MT-TW	ORPHA:550
HP:0002514	Cerebral calcification	4540	MT-ND5	ORPHA:550
HP:0002514	Cerebral calcification	4541	MT-ND6	ORPHA:550
HP:0002514	Cerebral calcification	4535	MT-ND1	ORPHA:550
HP:0002514	Cerebral calcification	4538	MT-ND4	ORPHA:550
HP:0002514	Cerebral calcification	4567	MT-TL1	ORPHA:550
HP:0002514	Cerebral calcification	4574	MT-TS1	ORPHA:550
HP:0002514	Cerebral calcification	4575	MT-TS2	ORPHA:550
HP:0002514	Cerebral calcification	4564	MT-TH	ORPHA:550
HP:0002514	Cerebral calcification	113612	CYP2U1	OMIM:615030
HP:0002514	Cerebral calcification	79621	RNASEH2B	OMIM:610181
HP:0002514	Cerebral calcification	58494	JAM2	OMIM:618824
HP:0002514	Cerebral calcification	1161	ERCC8	ORPHA:90324
HP:0002514	Cerebral calcification	1161	ERCC8	ORPHA:90321
HP:0002514	Cerebral calcification	1161	ERCC8	OMIM:216400
HP:0002514	Cerebral calcification	9636	ISG15	OMIM:616126
HP:0002514	Cerebral calcification	2072	ERCC4	ORPHA:90321
HP:0002514	Cerebral calcification	54209	TREM2	OMIM:618193
HP:0002514	Cerebral calcification	100147744	RNU7-1	OMIM:619487
HP:0002514	Cerebral calcification	2767	GNA11	OMIM:615361
HP:0002514	Cerebral calcification	11277	TREX1	OMIM:225750
HP:0002514	Cerebral calcification	5155	PDGFB	OMIM:615483
HP:0002514	Cerebral calcification	5155	PDGFB	OMIM:213600
HP:0002514	Cerebral calcification	134353	LSM11	OMIM:619486
HP:0002514	Cerebral calcification	9213	XPR1	OMIM:616413
HP:0002514	Cerebral calcification	2625	GATA3	OMIM:146255
HP:0002514	Cerebral calcification	64135	IFIH1	OMIM:615846
HP:0002514	Cerebral calcification	5159	PDGFRB	OMIM:615007
HP:0002514	Cerebral calcification	5159	PDGFRB	OMIM:213600
HP:0002514	Cerebral calcification	57462	MYORG	OMIM:618317
HP:0002514	Cerebral calcification	760	CA2	OMIM:259730
HP:0002514	Cerebral calcification	760	CA2	ORPHA:2785
HP:0002514	Cerebral calcification	10059	DNM1L	ORPHA:98673
HP:0002514	Cerebral calcification	4976	OPA1	ORPHA:98673
HP:0002514	Cerebral calcification	90	ACVR1	OMIM:135100
HP:0002514	Cerebral calcification	2778	GNAS	OMIM:612462
HP:0002514	Cerebral calcification	2778	GNAS	ORPHA:79443
HP:0002514	Cerebral calcification	2778	GNAS	ORPHA:79444
HP:0002514	Cerebral calcification	2778	GNAS	OMIM:103580
HP:0002514	Cerebral calcification	727676	SNORD118	ORPHA:542310
HP:0002514	Cerebral calcification	91137	SLC25A46	OMIM:616505
HP:0002514	Cerebral calcification	6575	SLC20A2	OMIM:213600
HP:0002514	Cerebral calcification	63901	FAM111A	OMIM:127000
HP:0002514	Cerebral calcification	63901	FAM111A	ORPHA:93325
HP:0002514	Cerebral calcification	116442	RAB39B	OMIM:311510
HP:0002514	Cerebral calcification	56984	PSMG2	OMIM:619183
HP:0002514	Cerebral calcification	846	CASR	OMIM:601198
HP:0002514	Cerebral calcification	23258	DENND5A	OMIM:617281
HP:0002514	Cerebral calcification	23404	EXOSC2	OMIM:617763
HP:0002514	Cerebral calcification	7305	TYROBP	OMIM:221770
HP:0002514	Cerebral calcification	2071	ERCC3	OMIM:610651
HP:0002514	Cerebral calcification	113235	SLC46A1	OMIM:229050
HP:0002514	Cerebral calcification	25939	SAMHD1	OMIM:612952
HP:0002514	Cerebral calcification	5696	PSMB8	OMIM:256040
HP:0002514	Cerebral calcification	2697	GJA1	OMIM:164200
HP:0002514	Cerebral calcification	8905	AP1S2	OMIM:304340
HP:0002514	Cerebral calcification	1497	CTNS	OMIM:219800
HP:0002514	Cerebral calcification	26277	TINF2	OMIM:268130
HP:0002514	Cerebral calcification	26277	TINF2	OMIM:613990
HP:0002514	Cerebral calcification	26277	TINF2	ORPHA:3322
HP:0002514	Cerebral calcification	26277	TINF2	ORPHA:1775
HP:0002514	Cerebral calcification	6309	SC5D	ORPHA:46059
HP:0002514	Cerebral calcification	3265	HRAS	ORPHA:2612
HP:0002514	Cerebral calcification	3845	KRAS	ORPHA:2612
HP:0002514	Cerebral calcification	3845	KRAS	ORPHA:2396
HP:0002514	Cerebral calcification	4893	NRAS	ORPHA:2612
HP:0002514	Cerebral calcification	8496	PPFIBP1	OMIM:620024
HP:0002514	Cerebral calcification	1436	CSF1R	OMIM:618476
HP:0002514	Cerebral calcification	5649	RELN	ORPHA:89844
HP:0002514	Cerebral calcification	10300	KATNB1	ORPHA:89844
HP:0002514	Cerebral calcification	54820	NDE1	ORPHA:89844
HP:0002514	Cerebral calcification	51741	WWOX	OMIM:616211
HP:0002514	Cerebral calcification	65082	VPS33A	OMIM:617303
HP:0002514	Cerebral calcification	65082	VPS33A	ORPHA:505248
HP:0002514	Cerebral calcification	5053	PAH	OMIM:261600
HP:0002514	Cerebral calcification	5053	PAH	ORPHA:79254
HP:0002514	Cerebral calcification	55651	NHP2	OMIM:613987
HP:0002514	Cerebral calcification	55651	NHP2	ORPHA:1775
HP:0002514	Cerebral calcification	389827	MYMK	ORPHA:1358
HP:0002514	Cerebral calcification	101929726	MYMX	ORPHA:1358
HP:0002514	Cerebral calcification	56975	FAM20C	OMIM:259775
HP:0002514	Cerebral calcification	79709	COLGALT1	OMIM:618360
HP:0002514	Cerebral calcification	8671	SLC4A4	OMIM:604278
HP:0002514	Cerebral calcification	54	ACP5	OMIM:607944
HP:0002514	Cerebral calcification	54	ACP5	ORPHA:1855
HP:0002514	Cerebral calcification	889	KRIT1	OMIM:116860
HP:0002514	Cerebral calcification	103	ADAR	OMIM:615010
HP:0002514	Cerebral calcification	103	ADAR	ORPHA:51
HP:0002514	Cerebral calcification	3394	IRF8	OMIM:226990
HP:0002514	Cerebral calcification	11274	USP18	OMIM:617397
HP:0002514	Cerebral calcification	2068	ERCC2	ORPHA:1466
HP:0002514	Cerebral calcification	2073	ERCC5	ORPHA:1466
HP:0002514	Cerebral calcification	6773	STAT2	OMIM:618886
HP:0002514	Cerebral calcification	2260	FGFR1	ORPHA:2396
HP:0002514	Cerebral calcification	3117	HLA-DQA1	OMIM:212750
HP:0002514	Cerebral calcification	3119	HLA-DQB1	OMIM:212750
HP:0002514	Cerebral calcification	100506658	OCLN	ORPHA:1229
HP:0002514	Cerebral calcification	100506658	OCLN	OMIM:251290
HP:0002514	Cerebral calcification	1280	COL2A1	ORPHA:85198
HP:0002514	Cerebral calcification	8635	RNASET2	OMIM:612951
HP:0002514	Cerebral calcification	139285	AMER1	ORPHA:2780
HP:0002514	Cerebral calcification	4644	MYO5A	ORPHA:79476
HP:0002514	Cerebral calcification	1499	CTNNB1	ORPHA:54595
HP:0002514	Cerebral calcification	673	BRAF	ORPHA:54595
HP:0002514	Cerebral calcification	4953	ODC1	OMIM:619075
HP:0002514	Cerebral calcification	538	ATP7A	ORPHA:198
HP:0002514	Cerebral calcification	5167	ENPP1	ORPHA:51608
HP:0002514	Cerebral calcification	5167	ENPP1	ORPHA:758
HP:0002514	Cerebral calcification	7249	TSC2	OMIM:613254
HP:0002514	Cerebral calcification	3458	IFNG	OMIM:613254
HP:0002514	Cerebral calcification	5189	PEX1	ORPHA:3220
HP:0002514	Cerebral calcification	5190	PEX6	ORPHA:3220
HP:0002514	Cerebral calcification	10056	FARSB	OMIM:613658
HP:0002514	Cerebral calcification	1836	SLC26A2	ORPHA:628
HP:0002514	Cerebral calcification	2776	GNAQ	ORPHA:624
HP:0002514	Cerebral calcification	2776	GNAQ	ORPHA:3205
HP:0002514	Cerebral calcification	26137	ZBTB20	OMIM:259050
HP:0002514	Cerebral calcification	6628	SNRPB	ORPHA:1393
HP:0002514	Cerebral calcification	57169	ZNFX1	OMIM:619644
HP:0002514	Cerebral calcification	1605	DAG1	OMIM:616538
HP:0002514	Cerebral calcification	7248	TSC1	OMIM:191100
HP:0002514	Cerebral calcification	6598	SMARCB1	ORPHA:99966
HP:0002514	Cerebral calcification	326	AIRE	ORPHA:3453
HP:0002514	Cerebral calcification	8643	PTCH2	ORPHA:377
HP:0002514	Cerebral calcification	51684	SUFU	ORPHA:377
HP:0002514	Cerebral calcification	4256	MGP	OMIM:245150
HP:0002514	Cerebral calcification	9365	KL	OMIM:617994
HP:0002514	Cerebral calcification	351	APP	ORPHA:100006
HP:0002514	Cerebral calcification	5741	PTH	OMIM:146200
HP:0002514	Cerebral calcification	10312	TCIRG1	ORPHA:1782
HP:0002514	Cerebral calcification	55315	SLC29A3	ORPHA:1782
HP:0002514	Cerebral calcification	8792	TNFRSF11A	ORPHA:1782
HP:0002514	Cerebral calcification	51750	RTEL1	ORPHA:3322
HP:0002514	Cerebral calcification	51750	RTEL1	ORPHA:1775
HP:0002514	Cerebral calcification	65057	ACD	ORPHA:3322
HP:0002514	Cerebral calcification	5073	PARN	ORPHA:3322
HP:0002514	Cerebral calcification	5073	PARN	ORPHA:1775
HP:0002514	Cerebral calcification	7015	TERT	ORPHA:3322
HP:0002514	Cerebral calcification	7015	TERT	ORPHA:1775
HP:0002514	Cerebral calcification	1736	DKC1	ORPHA:3322
HP:0002514	Cerebral calcification	1736	DKC1	ORPHA:1775
HP:0002514	Cerebral calcification	84153	RNASEH2C	OMIM:610329
HP:0002514	Cerebral calcification	84153	RNASEH2C	ORPHA:51
HP:0002514	Cerebral calcification	1376	CPT2	ORPHA:228308
HP:0002514	Cerebral calcification	3735	KARS1	OMIM:619147
HP:0002514	Cerebral calcification	5860	QDPR	OMIM:261630
HP:0002514	Cerebral calcification	56160	NSMCE3	OMIM:617241
HP:0002514	Cerebral calcification	80169	CTC1	OMIM:612199
HP:0002514	Cerebral calcification	80169	CTC1	ORPHA:1775
HP:0002514	Cerebral calcification	79650	USB1	ORPHA:1775
HP:0002514	Cerebral calcification	55135	WRAP53	ORPHA:1775
HP:0002514	Cerebral calcification	4869	NPM1	ORPHA:1775
HP:0002514	Cerebral calcification	7012	TERC	ORPHA:1775
HP:0002514	Cerebral calcification	55505	NOP10	ORPHA:1775
HP:0002514	Cerebral calcification	7298	TYMS	ORPHA:1775
HP:0002514	Cerebral calcification	10535	RNASEH2A	OMIM:610333
HP:0002514	Cerebral calcification	10535	RNASEH2A	ORPHA:51
HP:0002514	Cerebral calcification	1188	CLCNKB	ORPHA:358
HP:0002514	Cerebral calcification	6559	SLC12A3	ORPHA:358
HP:0002514	Cerebral calcification	8803	SUCLA2	ORPHA:1933
HP:0002514	Cerebral calcification	5727	PTCH1	ORPHA:77301
HP:0002514	Cerebral calcification	5727	PTCH1	OMIM:109400
HP:0002514	Cerebral calcification	4921	DDR2	OMIM:271665
HP:0002514	Cerebral calcification	1301	COL11A1	OMIM:154780
HP:0002514	Cerebral calcification	368	ABCC6	OMIM:177850
HP:0002514	Cerebral calcification	57688	ZSWIM6	OMIM:603671
HP:0002514	Cerebral calcification	1893	ECM1	OMIM:247100
HP:0002514	Cerebral calcification	1075	CTSC	OMIM:245000
HP:0002514	Cerebral calcification	6513	SLC2A1	OMIM:608885
HP:0002514	Cerebral calcification	6513	SLC2A1	ORPHA:168577
HP:0002514	Cerebral calcification	2067	ERCC1	ORPHA:90322
HP:0006849	Hypodysplasia of the corpus callosum	701	BUB1B	OMIM:257300
HP:0006850	Hypoplasia of the ventral pons	283989	TSEN54	ORPHA:2524
HP:0006850	Hypoplasia of the ventral pons	116461	TSEN15	ORPHA:2524
HP:0006850	Hypoplasia of the ventral pons	79042	TSEN34	ORPHA:2524
HP:0006850	Hypoplasia of the ventral pons	80746	TSEN2	ORPHA:2524
HP:0006850	Hypoplasia of the ventral pons	51091	SEPSECS	ORPHA:2524
HP:0006850	Hypoplasia of the ventral pons	7443	VRK1	OMIM:607596
HP:0006851	Symmetric spinal nerve root neurofibromas	4763	NF1	OMIM:162210
HP:0006852	Episodic generalized hypotonia	6507	SLC1A3	OMIM:612656
HP:0006852	Episodic generalized hypotonia	478	ATP1A3	OMIM:601338
HP:0007260	Type II lissencephaly	3912	LAMB1	OMIM:615191
HP:0007260	Type II lissencephaly	3912	LAMB1	ORPHA:352682
HP:0007260	Type II lissencephaly	29925	GMPPB	ORPHA:370959
HP:0007260	Type II lissencephaly	79147	FKRP	ORPHA:370959
HP:0007260	Type II lissencephaly	79147	FKRP	OMIM:613153
HP:0007260	Type II lissencephaly	79147	FKRP	OMIM:236670
HP:0007260	Type II lissencephaly	29954	POMT2	ORPHA:370959
HP:0007260	Type II lissencephaly	29954	POMT2	OMIM:613150
HP:0007260	Type II lissencephaly	29954	POMT2	OMIM:236670
HP:0007260	Type II lissencephaly	84197	POMK	ORPHA:370959
HP:0007260	Type II lissencephaly	84197	POMK	OMIM:615249
HP:0007260	Type II lissencephaly	55624	POMGNT1	ORPHA:370959
HP:0007260	Type II lissencephaly	55624	POMGNT1	OMIM:253280
HP:0007260	Type II lissencephaly	10585	POMT1	ORPHA:370959
HP:0007260	Type II lissencephaly	10585	POMT1	OMIM:236670
HP:0007260	Type II lissencephaly	148789	B3GALNT2	OMIM:615181
HP:0007260	Type II lissencephaly	2218	FKTN	ORPHA:272
HP:0007260	Type II lissencephaly	2218	FKTN	OMIM:253800
HP:0007260	Type II lissencephaly	2218	FKTN	OMIM:236670
HP:0007260	Type II lissencephaly	10329	RXYLT1	OMIM:615041
HP:0007260	Type II lissencephaly	11041	B4GAT1	OMIM:615287
HP:0007260	Type II lissencephaly	9215	LARGE1	OMIM:613154
HP:0007260	Type II lissencephaly	9215	LARGE1	OMIM:236670
HP:0007260	Type II lissencephaly	160418	TMTC3	OMIM:617255
HP:0007260	Type II lissencephaly	729920	CRPPA	OMIM:614643
HP:0007260	Type II lissencephaly	84892	POMGNT2	OMIM:614830
HP:0007260	Type II lissencephaly	10381	TUBB3	ORPHA:300570
HP:0006855	Cerebellar vermis atrophy	339453	TMEM240	ORPHA:98773
HP:0006855	Cerebellar vermis atrophy	8450	CUL4B	OMIM:300354
HP:0006855	Cerebellar vermis atrophy	55703	POLR3B	OMIM:614381
HP:0006855	Cerebellar vermis atrophy	92935	MARS2	OMIM:611390
HP:0006855	Cerebellar vermis atrophy	375	ARF1	OMIM:618185
HP:0006855	Cerebellar vermis atrophy	94005	PIGS	OMIM:618143
HP:0006855	Cerebellar vermis atrophy	2895	GRID2	OMIM:616204
HP:0006855	Cerebellar vermis atrophy	2895	GRID2	ORPHA:363432
HP:0006855	Cerebellar vermis atrophy	64116	SLC39A8	OMIM:616721
HP:0006855	Cerebellar vermis atrophy	9698	PUM1	OMIM:617931
HP:0006855	Cerebellar vermis atrophy	4311	MME	OMIM:617018
HP:0006855	Cerebellar vermis atrophy	4311	MME	ORPHA:497764
HP:0006855	Cerebellar vermis atrophy	23533	PIK3R5	ORPHA:64753
HP:0006855	Cerebellar vermis atrophy	23064	SETX	ORPHA:64753
HP:0006855	Cerebellar vermis atrophy	5828	PEX2	OMIM:614866
HP:0006855	Cerebellar vermis atrophy	10785	WDR4	OMIM:618347
HP:0006855	Cerebellar vermis atrophy	9254	CACNA2D2	OMIM:618501
HP:0006855	Cerebellar vermis atrophy	255928	SYT14	OMIM:614229
HP:0006855	Cerebellar vermis atrophy	51091	SEPSECS	OMIM:613811
HP:0006855	Cerebellar vermis atrophy	55775	TDP1	ORPHA:94124
HP:0006855	Cerebellar vermis atrophy	60481	ELOVL5	OMIM:615957
HP:0006855	Cerebellar vermis atrophy	5582	PRKCG	ORPHA:98763
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	ORPHA:208513
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	OMIM:117360
HP:0006855	Cerebellar vermis atrophy	773	CACNA1A	OMIM:108500
HP:0006855	Cerebellar vermis atrophy	773	CACNA1A	ORPHA:97
HP:0006855	Cerebellar vermis atrophy	26047	CNTNAP2	ORPHA:163681
HP:0006855	Cerebellar vermis atrophy	724066	ATXN8	ORPHA:98760
HP:0006855	Cerebellar vermis atrophy	6315	ATXN8OS	ORPHA:98760
HP:0006855	Cerebellar vermis atrophy	6548	SLC9A1	OMIM:616291
HP:0006855	Cerebellar vermis atrophy	203068	TUBB	OMIM:156610
HP:0006855	Cerebellar vermis atrophy	7222	TRPC3	OMIM:616410
HP:0006855	Cerebellar vermis atrophy	7222	TRPC3	ORPHA:458798
HP:0006855	Cerebellar vermis atrophy	5859	QARS1	OMIM:615760
HP:0006855	Cerebellar vermis atrophy	53335	BCL11A	OMIM:617101
HP:0006855	Cerebellar vermis atrophy	1742	DLG4	OMIM:618793
HP:0006855	Cerebellar vermis atrophy	4010	LMX1B	ORPHA:495818
HP:0006855	Cerebellar vermis atrophy	6812	STXBP1	ORPHA:495818
HP:0006855	Cerebellar vermis atrophy	9409	PEX16	OMIM:614877
HP:0006855	Cerebellar vermis atrophy	54676	GTPBP2	OMIM:617988
HP:0006855	Cerebellar vermis atrophy	11261	CHP1	OMIM:618438
HP:0006855	Cerebellar vermis atrophy	4884	NPTX1	OMIM:620158
HP:0006855	Cerebellar vermis atrophy	26278	SACS	OMIM:270550
HP:0006855	Cerebellar vermis atrophy	5354	PLP1	OMIM:312080
HP:0006855	Cerebellar vermis atrophy	1600	DAB1	ORPHA:363710
HP:0006855	Cerebellar vermis atrophy	3064	HTT	ORPHA:248111
HP:0006855	Cerebellar vermis atrophy	3064	HTT	OMIM:617435
HP:0006855	Cerebellar vermis atrophy	8913	CACNA1G	ORPHA:458803
HP:0006855	Cerebellar vermis atrophy	8913	CACNA1G	OMIM:618087
HP:0006855	Cerebellar vermis atrophy	116228	COX20	OMIM:619054
HP:0006855	Cerebellar vermis atrophy	7518	XRCC4	OMIM:616541
HP:0006855	Cerebellar vermis atrophy	23203	PMPCA	OMIM:213200
HP:0006855	Cerebellar vermis atrophy	23203	PMPCA	ORPHA:1170
HP:0006855	Cerebellar vermis atrophy	57410	SCYL1	ORPHA:466794
HP:0006855	Cerebellar vermis atrophy	57410	SCYL1	OMIM:616719
HP:0006855	Cerebellar vermis atrophy	54936	ADPRS	OMIM:618170
HP:0006855	Cerebellar vermis atrophy	27072	VPS41	OMIM:619389
HP:0006855	Cerebellar vermis atrophy	79152	FA2H	ORPHA:329308
HP:0006855	Cerebellar vermis atrophy	84188	FAR1	OMIM:616154
HP:0006855	Cerebellar vermis atrophy	547	KIF1A	OMIM:614255
HP:0006855	Cerebellar vermis atrophy	5981	RFC1	OMIM:614575
HP:0006855	Cerebellar vermis atrophy	2705	GJB1	ORPHA:1175
HP:0006855	Cerebellar vermis atrophy	4976	OPA1	OMIM:210000
HP:0006855	Cerebellar vermis atrophy	267010	RNU12	ORPHA:512260
HP:0007272	Progressive psychomotor deterioration	154881	KCTD7	ORPHA:263516
HP:0007272	Progressive psychomotor deterioration	1593	CYP27A1	ORPHA:909
HP:0007272	Progressive psychomotor deterioration	410	ARSA	ORPHA:309271
HP:0007272	Progressive psychomotor deterioration	410	ARSA	ORPHA:309263
HP:0007272	Progressive psychomotor deterioration	5660	PSAP	ORPHA:309271
HP:0007272	Progressive psychomotor deterioration	5660	PSAP	ORPHA:309263
HP:0007272	Progressive psychomotor deterioration	6389	SDHA	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	6390	SDHB	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	6392	SDHD	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	644096	SDHAF1	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	26580	BSCL2	ORPHA:363400
HP:0007272	Progressive psychomotor deterioration	2720	GLB1	OMIM:230600
HP:0007272	Progressive psychomotor deterioration	23203	PMPCA	ORPHA:1170
HP:0007272	Progressive psychomotor deterioration	3074	HEXB	OMIM:268800
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	ORPHA:401973
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	OMIM:300960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	OMIM:302960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23556	PIGN	ORPHA:2059
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7545	ZIC1	OMIM:616602
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7545	ZIC1	OMIM:618736
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57465	TBC1D24	OMIM:220500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57465	TBC1D24	ORPHA:79500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79068	FTO	OMIM:612938
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57492	ARID1B	OMIM:135900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57492	ARID1B	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3899	AFF3	OMIM:619297
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6597	SMARCA4	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6597	SMARCA4	OMIM:614609
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6659	SOX4	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5977	DPF2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6601	SMARCC2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6602	SMARCD1	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	196528	ARID2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6664	SOX11	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27315	PGAP2	OMIM:614207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	157570	ESCO2	ORPHA:2319
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79770	TXNDC15	ORPHA:564
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	OMIM:267010
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	OMIM:208540
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	ORPHA:3032
HP:0007360	Aplasia/Hypoplasia of the cerebellum	171023	ASXL1	ORPHA:97297
HP:0007360	Aplasia/Hypoplasia of the cerebellum	171023	ASXL1	OMIM:605039
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84188	FAR1	ORPHA:438178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84188	FAR1	OMIM:616154
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4927	NUP88	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4654	MYOD1	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5913	RAPSN	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6572	SLC18A3	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	285489	DOK7	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4534	MTM1	OMIM:310400
HP:0007360	Aplasia/Hypoplasia of the cerebellum	526	ATP6V1B2	ORPHA:79500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54880	BCOR	OMIM:300166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5500	PPP1CB	OMIM:617506
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54676	GTPBP2	OMIM:617988
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23007	PLCH1	OMIM:619895
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2121	EVC	OMIM:225500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	132884	EVC2	OMIM:225500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3798	KIF5A	OMIM:617235
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1028	CDKN1C	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10984	KCNQ1OT1	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3481	IGF2	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3784	KCNQ1	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10195	ALG3	ORPHA:79321
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27183	VPS4A	OMIM:619273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10128	LRPPRC	OMIM:220111
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3912	LAMB1	OMIM:615191
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54892	NCAPG2	OMIM:618460
HP:0007360	Aplasia/Hypoplasia of the cerebellum	60529	ALX4	OMIM:613451
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4750	NEK1	OMIM:263520
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23241	PACS2	OMIM:618067
HP:0007360	Aplasia/Hypoplasia of the cerebellum	100151683	RNU4ATAC	OMIM:210710
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26160	IFT172	OMIM:615630
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	OMIM:614424
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:220497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55733	HHAT	OMIM:600092
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56623	INPP5E	OMIM:213300
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56623	INPP5E	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56623	INPP5E	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56623	INPP5E	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8496	PPFIBP1	OMIM:620024
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1605	DAG1	ORPHA:370997
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1605	DAG1	OMIM:616538
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4867	NPHP1	OMIM:609583
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4867	NPHP1	ORPHA:220497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64324	NSD1	ORPHA:821
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29072	SETD2	ORPHA:821
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10297	APC2	ORPHA:821
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91147	TMEM67	OMIM:216360
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91147	TMEM67	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91147	TMEM67	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91147	TMEM67	OMIM:610688
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79848	CSPP1	ORPHA:397715
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79848	CSPP1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9786	KIAA0586	ORPHA:397715
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9786	KIAA0586	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9786	KIAA0586	OMIM:616546
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128869	PIGU	OMIM:618590
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4983	OPHN1	OMIM:300486
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4281	MID1	OMIM:300000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9578	CDC42BPB	OMIM:619841
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3020	H3-3A	OMIM:619720
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219854	TMEM218	OMIM:619562
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219854	TMEM218	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	473	RERE	OMIM:616975
HP:0007360	Aplasia/Hypoplasia of the cerebellum	473	RERE	ORPHA:494344
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23322	RPGRIP1L	ORPHA:220497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23322	RPGRIP1L	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7280	TUBB2A	OMIM:615763
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79644	SRD5A3	OMIM:612379
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	OMIM:608629
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	153241	CEP120	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	153241	CEP120	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54903	MKS1	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54903	MKS1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95681	CEP41	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95681	CEP41	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29968	PSAT1	OMIM:610992
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29968	PSAT1	ORPHA:284417
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10501	SEMA6B	OMIM:618876
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80055	PGAP1	OMIM:615802
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57082	KNL1	OMIM:604321
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	OMIM:611603
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	ORPHA:467166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	ORPHA:171680
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9382	COG1	OMIM:611209
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9382	COG1	ORPHA:263508
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29925	GMPPB	ORPHA:370968
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79147	FKRP	ORPHA:370968
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29954	POMT2	ORPHA:370968
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29954	POMT2	OMIM:613156
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9215	LARGE1	ORPHA:370968
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10585	POMT1	ORPHA:370968
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10585	POMT1	OMIM:613155
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55777	MBD5	OMIM:156200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	347733	TUBB2B	ORPHA:467166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	347733	TUBB2B	OMIM:610031
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10381	TUBB3	ORPHA:467166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10381	TUBB3	ORPHA:300570
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22930	RAB3GAP1	OMIM:600118
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22930	RAB3GAP1	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	203068	TUBB	OMIM:615771
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23545	ATP6V0A2	ORPHA:2834
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1778	DYNC1H1	OMIM:614563
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23090	ZNF423	OMIM:614844
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23090	ZNF423	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1801	DPH1	OMIM:616901
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1801	DPH1	ORPHA:459061
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80746	TSEN2	OMIM:612389
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80746	TSEN2	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22897	CEP164	OMIM:614845
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54974	THG1L	OMIM:618800
HP:0007360	Aplasia/Hypoplasia of the cerebellum	93627	TBCK	OMIM:616900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1063	CENPF	OMIM:243605
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79583	TMEM231	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79583	TMEM231	ORPHA:2752
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51524	TMEM138	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80184	CEP290	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51259	TMEM216	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51259	TMEM216	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57545	CC2D2A	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57545	CC2D2A	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57545	CC2D2A	OMIM:619111
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23116	TOGARAM1	OMIM:619185
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23116	TOGARAM1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7703	PCGF2	OMIM:618371
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80856	LNPK	OMIM:618090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23258	DENND5A	OMIM:617281
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26278	SACS	ORPHA:98
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9839	ZEB2	ORPHA:261552
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9839	ZEB2	ORPHA:261537
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79600	TCTN1	OMIM:614173
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79600	TCTN1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79042	TSEN34	OMIM:612390
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79042	TSEN34	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	127833	SYT2	OMIM:619461
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1822	ATN1	OMIM:618494
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8550	MAPKAPK5	OMIM:619869
HP:0007360	Aplasia/Hypoplasia of the cerebellum	545	ATR	OMIM:210600
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10352	WARS2	ORPHA:572798
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26005	C2CD3	OMIM:615948
HP:0007360	Aplasia/Hypoplasia of the cerebellum	492	ATP2B3	ORPHA:314978
HP:0007360	Aplasia/Hypoplasia of the cerebellum	60386	SLC25A19	ORPHA:99742
HP:0007360	Aplasia/Hypoplasia of the cerebellum	60386	SLC25A19	OMIM:607196
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5373	PMM2	OMIM:212065
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5373	PMM2	ORPHA:79318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2296	FOXC1	OMIM:602482
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2296	FOXC1	OMIM:601631
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8241	RBM10	OMIM:311900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	59336	PRDM13	OMIM:619909
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51684	SUFU	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	OMIM:277170
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	200894	ARL13B	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9731	CEP104	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219844	HYLS1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23247	KATNIP	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23247	KATNIP	OMIM:616784
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79867	TCTN2	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80776	B9D2	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10464	PIBF1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80210	ARMC9	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25776	CBY1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27077	B9D1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	403	ARL3	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	403	ARL3	OMIM:618161
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10804	GJB6	ORPHA:477
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2706	GJB2	ORPHA:477
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2615	LRRC32	OMIM:619074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4352	MPL	OMIM:604498
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11340	EXOSC8	OMIM:616081
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	OMIM:619476
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	OMIM:617127
HP:0007360	Aplasia/Hypoplasia of the cerebellum	253738	EBF3	OMIM:617330
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57187	THOC2	OMIM:300957
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2892	GRIA3	ORPHA:364028
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56006	SMG9	OMIM:616920
HP:0007360	Aplasia/Hypoplasia of the cerebellum	163786	SASS6	OMIM:616402
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55280	CWF19L1	OMIM:616127
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55280	CWF19L1	ORPHA:453521
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29957	SLC25A24	OMIM:612289
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4361	MRE11	ORPHA:251347
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8239	USP9X	ORPHA:480880
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51692	CPSF3	OMIM:619876
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9289	ADGRG1	ORPHA:98889
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9289	ADGRG1	ORPHA:101070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5297	PI4KA	ORPHA:98889
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5297	PI4KA	OMIM:616531
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27286	SRPX2	ORPHA:98889
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5728	PTEN	ORPHA:101070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10236	HNRNPR	OMIM:620073
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51611	DPH5	OMIM:620070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6872	TAF1	OMIM:300966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22983	MAST1	OMIM:618273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2232	FDXR	ORPHA:543470
HP:0007360	Aplasia/Hypoplasia of the cerebellum	90416	CCDC32	OMIM:619123
HP:0007360	Aplasia/Hypoplasia of the cerebellum	283989	TSEN54	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	116461	TSEN15	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51091	SEPSECS	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6121	RPE65	OMIM:204100
HP:0007360	Aplasia/Hypoplasia of the cerebellum	284217	LAMA1	OMIM:615960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5591	PRKDC	OMIM:615966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3708	ITPR1	OMIM:117360
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57038	RARS2	OMIM:611523
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54499	TMCO1	ORPHA:1394
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79971	WLS	OMIM:619648
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79633	FAT4	ORPHA:314679
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8642	DCHS1	ORPHA:314679
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55691	FRMD4A	OMIM:616819
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55691	FRMD4A	ORPHA:466688
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3187	HNRNPH1	OMIM:620083
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57724	EPG5	OMIM:242840
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57020	VPS35L	OMIM:619135
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4123	MAN2C1	OMIM:619775
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5879	RAC1	OMIM:617751
HP:0007360	Aplasia/Hypoplasia of the cerebellum	738	VPS51	OMIM:618606
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8481	OFD1	OMIM:300804
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8481	OFD1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23499	MACF1	OMIM:618325
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2806	GOT2	OMIM:618721
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3954	LETM1	OMIM:620089
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84081	NSRP1	OMIM:620001
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5048	PAFAH1B1	ORPHA:95232
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9939	RBM8A	OMIM:274000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25782	RAB3GAP2	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22931	RAB18	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128637	TBC1D20	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10079	ATP9A	OMIM:620242
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1376	CPT2	ORPHA:228308
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10210	TOPORS	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26123	TCTN3	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5147	PDE6D	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	317662	FAM149B1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	374654	KIF7	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9896	FIG4	OMIM:216340
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23299	BICD2	OMIM:618291
HP:0007360	Aplasia/Hypoplasia of the cerebellum	129285	PPP1R21	OMIM:619383
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79023	NUP37	OMIM:618179
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8295	TRRAP	OMIM:618454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9181	ARHGEF2	OMIM:617523
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2719	GPC3	OMIM:312870
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2239	GPC4	OMIM:312870
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55770	EXOC2	OMIM:619306
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9230	RAB11B	OMIM:617807
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8905	AP1S2	OMIM:304340
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80816	ASXL3	ORPHA:352577
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6095	RORA	OMIM:618060
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11113	CIT	OMIM:617090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29899	GPSM2	OMIM:604213
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11253	MAN1B1	ORPHA:397941
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11253	MAN1B1	OMIM:614202
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83700	JAM3	OMIM:613730
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2972	BRF1	OMIM:616202
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2972	BRF1	ORPHA:444072
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55627	SMPD4	OMIM:618622
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55325	UFSP2	OMIM:620028
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1736	DKC1	OMIM:305000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1736	DKC1	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5457	POU4F1	ORPHA:314647
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23261	CAMTA1	ORPHA:314647
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23261	CAMTA1	OMIM:614756
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85300	ATCAY	ORPHA:94122
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85300	ATCAY	OMIM:601238
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57176	VARS2	OMIM:615917
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55112	DYNC2I1	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57560	IFT80	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57539	WDR35	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79659	DYNC2H1	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	89891	DYNC2I2	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80232	WDR26	ORPHA:513456
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5932	RBBP8	OMIM:606744
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51506	UFC1	OMIM:618076
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84892	POMGNT2	OMIM:614830
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84892	POMGNT2	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10730	YME1L1	OMIM:617302
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55690	PACS1	OMIM:615009
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55690	PACS1	ORPHA:329224
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6507	SLC1A3	OMIM:612656
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51112	TRAPPC12	OMIM:617669
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55780	ERMARD	ORPHA:75857
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	OMIM:613989
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	271	AMPD2	OMIM:615809
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51360	MBTPS2	ORPHA:2273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	535	ATP6V0A1	OMIM:619971
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:613990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:268130
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8913	CACNA1G	OMIM:618087
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1020	CDK5	OMIM:616342
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5119	CHMP1A	OMIM:614961
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7436	VLDLR	OMIM:224050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6773	STAT2	OMIM:618886
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8289	ARID1A	OMIM:614607
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10939	AFG3L2	ORPHA:313772
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6598	SMARCB1	OMIM:614608
HP:0007360	Aplasia/Hypoplasia of the cerebellum	157680	VPS13B	OMIM:216550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5354	PLP1	ORPHA:280210
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55697	VAC14	ORPHA:3472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	652	BMP4	OMIM:607932
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57498	KIDINS220	OMIM:619501
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23312	DMXL2	OMIM:616113
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23312	DMXL2	ORPHA:453533
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5073	PARN	OMIM:616353
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5073	PARN	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23036	ZNF292	OMIM:619188
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84314	TMEM107	OMIM:617562
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55154	MSTO1	ORPHA:502423
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4247	MGAT2	OMIM:212066
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4247	MGAT2	ORPHA:79329
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26227	PHGDH	OMIM:256520
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2316	FLNA	ORPHA:90652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2316	FLNA	OMIM:300049
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23265	EXOC7	OMIM:619072
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1798	DPAGT1	ORPHA:86309
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1182	CLCN3	OMIM:619512
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4593	MUSK	OMIM:208150
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84879	MFSD2A	OMIM:616486
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51604	PIGT	OMIM:615398
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55773	TBC1D23	OMIM:617695
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5828	PEX2	OMIM:614866
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10013	HDAC6	ORPHA:163966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6134	RPL10	ORPHA:459070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6134	RPL10	OMIM:300998
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55165	CEP55	OMIM:236500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5649	RELN	OMIM:257320
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11128	POLR3A	ORPHA:447896
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11128	POLR3A	ORPHA:3455
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5605	MAP2K2	OMIM:615280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4644	MYO5A	ORPHA:33445
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79813	EHMT1	ORPHA:261652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	58508	KMT2C	ORPHA:261652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8818	DPM2	OMIM:615042
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8818	DPM2	ORPHA:329178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8733	GPAA1	ORPHA:529665
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8733	GPAA1	OMIM:617810
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11041	B4GAT1	OMIM:615287
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11041	B4GAT1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9474	ATG5	OMIM:617584
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9928	KIF14	OMIM:616258
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9928	KIF14	OMIM:617914
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5340	PLG	OMIM:217090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6605	SMARCE1	OMIM:616938
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2683	B4GALT1	ORPHA:79332
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51085	MLXIPL	OMIM:194050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2006	ELN	OMIM:194050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51322	WAC	ORPHA:284169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63895	PIEZO2	OMIM:248700
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63895	PIEZO2	ORPHA:2461
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8573	CASK	ORPHA:163937
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8573	CASK	OMIM:300749
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23162	MAPK8IP3	OMIM:618443
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7355	SLC35A2	OMIM:300896
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55120	FANCL	OMIM:614083
HP:0007360	Aplasia/Hypoplasia of the cerebellum	125988	MICOS13	OMIM:618329
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10735	STAG2	ORPHA:521258
HP:0007360	Aplasia/Hypoplasia of the cerebellum	729920	CRPPA	OMIM:614643
HP:0007360	Aplasia/Hypoplasia of the cerebellum	729920	CRPPA	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2146	EZH2	OMIM:277590
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29929	ALG6	ORPHA:79320
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51750	RTEL1	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51750	RTEL1	OMIM:615190
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65057	ACD	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65057	ACD	OMIM:616553
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79087	ALG12	ORPHA:79324
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3897	L1CAM	OMIM:304100
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3897	L1CAM	ORPHA:1497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10533	ATG7	OMIM:619422
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51645	PPIL1	OMIM:619301
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6576	SLC25A1	OMIM:615182
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51362	CDC40	OMIM:619302
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51117	COQ4	OMIM:616276
HP:0007360	Aplasia/Hypoplasia of the cerebellum	256297	PTF1A	ORPHA:65288
HP:0007360	Aplasia/Hypoplasia of the cerebellum	256297	PTF1A	OMIM:609069
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55656	INTS8	OMIM:618572
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10243	GPHN	OMIM:615501
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51013	EXOSC1	OMIM:619304
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2263	FGFR2	OMIM:101200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2263	FGFR2	ORPHA:207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1281	COL3A1	OMIM:618343
HP:0007360	Aplasia/Hypoplasia of the cerebellum	30000	TNPO2	OMIM:619556
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56896	DPYSL5	OMIM:619435
HP:0007360	Aplasia/Hypoplasia of the cerebellum	160418	TMTC3	OMIM:617255
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2187	FANCB	OMIM:300514
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2879	GPX4	ORPHA:93317
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124997	WDR81	OMIM:610185
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124997	WDR81	OMIM:617967
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4838	NODAL	OMIM:270100
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55593	OTUD5	OMIM:301056
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1436	CSF1R	OMIM:618476
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1062	CENPE	OMIM:616051
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6651	SON	OMIM:617140
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84162	BLTP1	OMIM:617822
HP:0007360	Aplasia/Hypoplasia of the cerebellum	998	CDC42	OMIM:616737
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10273	STUB1	OMIM:615768
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10273	STUB1	ORPHA:412057
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4081	MAB21L1	OMIM:618479
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27185	DISC1	ORPHA:171703
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8320	EOMES	ORPHA:171703
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7012	TERC	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54820	NDE1	OMIM:605013
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54820	NDE1	OMIM:614019
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64221	ROBO3	OMIM:607313
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1282	COL4A1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10329	RXYLT1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7547	ZIC3	OMIM:306955
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4784	NFIX	OMIM:602535
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4784	NFIX	ORPHA:561
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8925	HERC1	ORPHA:457359
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84340	GFM2	ORPHA:565624
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23221	RHOBTB2	OMIM:618004
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79641	ROGDI	OMIM:226750
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11274	USP18	OMIM:617397
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26007	TKFC	OMIM:618805
HP:0007360	Aplasia/Hypoplasia of the cerebellum	267010	RNU12	OMIM:620208
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2077	ERF	ORPHA:207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23203	PMPCA	OMIM:213200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6821	SUOX	OMIM:272300
HP:0007360	Aplasia/Hypoplasia of the cerebellum	191	AHCY	ORPHA:88618
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6712	SPTBN2	OMIM:600224
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5277	PIGA	OMIM:300868
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4700	NDUFA6	OMIM:618253
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3188	HNRNPH2	OMIM:300986
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83696	TRAPPC9	ORPHA:352530
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55210	ATAD3A	OMIM:618810
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64374	SIL1	ORPHA:559
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51763	INPP5K	ORPHA:559
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57572	DOCK6	OMIM:614219
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80347	COASY	OMIM:618266
HP:0007360	Aplasia/Hypoplasia of the cerebellum	340075	ARSI	ORPHA:401815
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57003	CCDC47	OMIM:618268
HP:0007360	Aplasia/Hypoplasia of the cerebellum	112858	TP53RK	OMIM:617730
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27107	ZBTB11	OMIM:618383
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7737	RNF113A	OMIM:300953
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3839	KPNA3	OMIM:620106
HP:0007360	Aplasia/Hypoplasia of the cerebellum	92935	MARS2	ORPHA:314603
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5162	PDHB	ORPHA:255138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4841	NONO	OMIM:300967
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4841	NONO	ORPHA:466791
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51124	IER3IP1	OMIM:614231
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55640	FLVCR2	OMIM:225790
HP:0007360	Aplasia/Hypoplasia of the cerebellum	202018	TAPT1	OMIM:616897
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55164	SHQ1	OMIM:619922
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7291	TWIST1	OMIM:617746
HP:0007360	Aplasia/Hypoplasia of the cerebellum	100506658	OCLN	OMIM:251290
HP:0007360	Aplasia/Hypoplasia of the cerebellum	93587	TRMT10A	ORPHA:391408
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84919	PPP1R15B	ORPHA:391408
HP:0007360	Aplasia/Hypoplasia of the cerebellum	259266	ASPM	OMIM:608716
HP:0007360	Aplasia/Hypoplasia of the cerebellum	523	ATP6V1A	ORPHA:357074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	529	ATP6V1E1	ORPHA:357074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	440	ASNS	OMIM:615574
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1719	DHFR	OMIM:613839
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6496	SIX3	OMIM:157170
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55074	OXR1	OMIM:213000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57647	DHX37	OMIM:618731
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23404	EXOSC2	OMIM:617763
HP:0007360	Aplasia/Hypoplasia of the cerebellum	18	ABAT	OMIM:613163
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1496	CTNNA2	OMIM:618174
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79587	CARS2	OMIM:616672
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7471	WNT1	OMIM:615220
HP:0007360	Aplasia/Hypoplasia of the cerebellum	498	ATP5F1A	OMIM:615228
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27445	PCLO	OMIM:608027
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4208	MEF2C	ORPHA:228384
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7020	TFAP2A	OMIM:113620
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4598	MVK	OMIM:610377
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95	ACY1	ORPHA:137754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3769	KCNJ13	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	343035	RD3	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	145226	RDH12	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1406	CRX	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64802	NMNAT1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57096	RPGRIP1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10383	TUBB4B	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9742	IFT140	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85015	USP45	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23418	CRB1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5130	PCYT1A	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9657	IQCB1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	392255	GDF6	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23746	AIPL1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3000	GUCY2D	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9227	LRAT	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55812	SPATA7	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7287	TULP1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	167691	LCA5	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3614	IMPDH1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84197	POMK	ORPHA:370959
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55624	POMGNT1	ORPHA:370959
HP:0007360	Aplasia/Hypoplasia of the cerebellum	114034	TOE1	ORPHA:284339
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9562	MINPP1	ORPHA:284339
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5518	PPP2R1A	ORPHA:457284
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6311	ATXN2	ORPHA:98756
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25914	RTTN	ORPHA:468631
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26173	INTS1	OMIM:618571
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4190	MDH1	OMIM:618959
HP:0007360	Aplasia/Hypoplasia of the cerebellum	50628	GEMIN4	OMIM:617913
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2911	GRM1	OMIM:614831
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23476	BRD4	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9126	SMC3	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8243	SMC1A	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25836	NIPBL	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55869	HDAC8	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5885	RAD21	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5396	PRRX1	ORPHA:990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5015	OTX2	ORPHA:990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5015	OTX2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7399	USH2A	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79955	PDZD7	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4647	MYO7A	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4647	MYO7A	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25861	WHRN	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84059	ADGRV1	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27238	GPKOW	ORPHA:2570
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6197	RPS6KA3	ORPHA:192
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3265	HRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3845	KRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4893	NRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5290	PIK3CA	ORPHA:60040
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5393	EXOSC9	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23287	AGTPBP1	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51010	EXOSC3	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7443	VRK1	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91137	SLC25A46	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4567	MT-TL1	ORPHA:225
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4556	MT-TE	ORPHA:225
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4566	MT-TK	ORPHA:225
HP:0007360	Aplasia/Hypoplasia of the cerebellum	148789	B3GALNT2	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2218	FKTN	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2737	GLI3	ORPHA:36
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22858	CILK1	OMIM:612651
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9640	ZNF592	ORPHA:83472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84942	WDR73	ORPHA:83472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1717	DHCR7	ORPHA:818
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55636	CHD7	ORPHA:138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9723	SEMA3E	ORPHA:138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57231	SNX14	ORPHA:397709
HP:0007360	Aplasia/Hypoplasia of the cerebellum	387119	CEP85L	ORPHA:572013
HP:0007360	Aplasia/Hypoplasia of the cerebellum	389827	MYMK	ORPHA:1358
HP:0007360	Aplasia/Hypoplasia of the cerebellum	101929726	MYMX	ORPHA:1358
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2261	FGFR3	ORPHA:93262
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10479	SLC9A6	ORPHA:85278
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2068	ERCC2	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2067	ERCC1	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2074	ERCC6	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2073	ERCC5	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85378	TUBGCP6	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27229	TUBGCP4	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10733	PLK4	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4693	NDP	ORPHA:649
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2697	GJA1	ORPHA:2710
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9897	WASHC5	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	28952	CCDC22	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64072	CDH23	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10083	USH1C	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124590	USH1G	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83715	ESPN	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10518	CIB2	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65217	PCDH15	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4524	MTHFR	ORPHA:563612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57216	VANGL2	ORPHA:563612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10815	CPLX1	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54872	PIGG	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7469	NELFA	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1487	CTBP1	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7468	NSD2	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9184	BUB3	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	699	BUB1	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9702	CEP57	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9319	TRIP13	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	701	BUB1B	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219285	SAMD9L	ORPHA:2585
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2260	FGFR1	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128674	PROKR2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6657	SOX2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6658	SOX3	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9915	ARNT2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8820	HESX1	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4001	LMNB1	ORPHA:99027
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4668	NAGA	ORPHA:79279
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79944	L2HGDH	ORPHA:79314
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2019	EN1	OMIM:619218
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51651	PTRH2	ORPHA:456312
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63925	ZNF335	OMIM:615095
HP:0006858	Impaired distal proprioception	10558	SPTLC1	OMIM:162400
HP:0006858	Impaired distal proprioception	4547	MTTP	ORPHA:14
HP:0006858	Impaired distal proprioception	9420	CYP7B1	OMIM:270800
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:157640
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:607459
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:258450
HP:0006858	Impaired distal proprioception	5428	POLG	ORPHA:70595
HP:0006858	Impaired distal proprioception	10397	NDRG1	OMIM:601455
HP:0006858	Impaired distal proprioception	56652	TWNK	OMIM:607459
HP:0006858	Impaired distal proprioception	56652	TWNK	ORPHA:70595
HP:0006858	Impaired distal proprioception	55703	POLR3B	OMIM:619742
HP:0006858	Impaired distal proprioception	547	KIF1A	OMIM:614213
HP:0006858	Impaired distal proprioception	22880	MORC2	OMIM:616688
HP:0006858	Impaired distal proprioception	7515	XRCC1	OMIM:617633
HP:0006858	Impaired distal proprioception	55775	TDP1	OMIM:607250
HP:0006858	Impaired distal proprioception	55775	TDP1	ORPHA:94124
HP:0006858	Impaired distal proprioception	54332	GDAP1	ORPHA:99948
HP:0006858	Impaired distal proprioception	54332	GDAP1	ORPHA:101097
HP:0006858	Impaired distal proprioception	55157	DARS2	ORPHA:137898
HP:0006858	Impaired distal proprioception	5173	PDYN	OMIM:610245
HP:0006858	Impaired distal proprioception	26580	BSCL2	OMIM:270685
HP:0006858	Impaired distal proprioception	11128	POLR3A	ORPHA:447896
HP:0032705	Focal aware cognitive seizure with forced thinking	51083	GAL	OMIM:616461
HP:0000496	Abnormality of eye movement	1718	DHCR24	OMIM:602398
HP:0000496	Abnormality of eye movement	1718	DHCR24	ORPHA:35107
HP:0000496	Abnormality of eye movement	2673	GFPT1	OMIM:608931
HP:0000496	Abnormality of eye movement	1145	CHRNE	OMIM:608931
HP:0000496	Abnormality of eye movement	1145	CHRNE	OMIM:605809
HP:0000496	Abnormality of eye movement	23394	ADNP	ORPHA:404448
HP:0000496	Abnormality of eye movement	23394	ADNP	OMIM:615873
HP:0000496	Abnormality of eye movement	51256	TBC1D7	OMIM:248000
HP:0000496	Abnormality of eye movement	340533	NEXMIF	OMIM:300912
HP:0000496	Abnormality of eye movement	1139	CHRNA7	ORPHA:199318
HP:0000496	Abnormality of eye movement	1139	CHRNA7	OMIM:612001
HP:0000496	Abnormality of eye movement	23135	KDM6B	OMIM:618505
HP:0000496	Abnormality of eye movement	1024	CDK8	OMIM:618748
HP:0000496	Abnormality of eye movement	10059	DNM1L	OMIM:614388
HP:0000496	Abnormality of eye movement	10059	DNM1L	ORPHA:330050
HP:0000496	Abnormality of eye movement	7299	TYR	OMIM:203100
HP:0000496	Abnormality of eye movement	7299	TYR	ORPHA:79434
HP:0000496	Abnormality of eye movement	2677	GGCX	ORPHA:436274
HP:0000496	Abnormality of eye movement	9254	CACNA2D2	OMIM:618501
HP:0000496	Abnormality of eye movement	4897	NRCAM	OMIM:619833
HP:0000496	Abnormality of eye movement	7021	TFAP2B	OMIM:169100
HP:0000496	Abnormality of eye movement	7021	TFAP2B	ORPHA:46627
HP:0000496	Abnormality of eye movement	5457	POU4F1	ORPHA:314647
HP:0000496	Abnormality of eye movement	23261	CAMTA1	ORPHA:314647
HP:0000496	Abnormality of eye movement	23261	CAMTA1	OMIM:614756
HP:0000496	Abnormality of eye movement	51	ACOX1	ORPHA:2971
HP:0000496	Abnormality of eye movement	51	ACOX1	OMIM:264470
HP:0000496	Abnormality of eye movement	51099	ABHD5	OMIM:275630
HP:0000496	Abnormality of eye movement	51099	ABHD5	ORPHA:98907
HP:0000496	Abnormality of eye movement	10084	PQBP1	ORPHA:93950
HP:0000496	Abnormality of eye movement	10084	PQBP1	ORPHA:93945
HP:0000496	Abnormality of eye movement	10084	PQBP1	OMIM:309500
HP:0000496	Abnormality of eye movement	55209	SETD5	ORPHA:404440
HP:0000496	Abnormality of eye movement	55209	SETD5	OMIM:615761
HP:0000496	Abnormality of eye movement	4125	MAN2B1	ORPHA:309282
HP:0000496	Abnormality of eye movement	10743	RAI1	ORPHA:477817
HP:0000496	Abnormality of eye movement	10743	RAI1	ORPHA:819
HP:0000496	Abnormality of eye movement	197131	UBR1	OMIM:243800
HP:0000496	Abnormality of eye movement	9578	CDC42BPB	OMIM:619841
HP:0000496	Abnormality of eye movement	65993	MRPS34	OMIM:617664
HP:0000496	Abnormality of eye movement	80816	ASXL3	OMIM:615485
HP:0000496	Abnormality of eye movement	80816	ASXL3	ORPHA:352577
HP:0000496	Abnormality of eye movement	56997	COQ8A	ORPHA:139485
HP:0000496	Abnormality of eye movement	56997	COQ8A	OMIM:612016
HP:0000496	Abnormality of eye movement	283489	CHAMP1	OMIM:616579
HP:0000496	Abnormality of eye movement	23322	RPGRIP1L	ORPHA:220497
HP:0000496	Abnormality of eye movement	23322	RPGRIP1L	ORPHA:1454
HP:0000496	Abnormality of eye movement	23322	RPGRIP1L	OMIM:619113
HP:0000496	Abnormality of eye movement	4867	NPHP1	ORPHA:220497
HP:0000496	Abnormality of eye movement	65062	TMEM237	ORPHA:220497
HP:0000496	Abnormality of eye movement	65062	TMEM237	ORPHA:2318
HP:0000496	Abnormality of eye movement	65062	TMEM237	ORPHA:475
HP:0000496	Abnormality of eye movement	65062	TMEM237	OMIM:614424
HP:0000496	Abnormality of eye movement	27245	AHDC1	ORPHA:412069
HP:0000496	Abnormality of eye movement	166378	AFG2A	OMIM:616577
HP:0000496	Abnormality of eye movement	55690	PACS1	OMIM:615009
HP:0000496	Abnormality of eye movement	54806	AHI1	ORPHA:220493
HP:0000496	Abnormality of eye movement	54806	AHI1	ORPHA:475
HP:0000496	Abnormality of eye movement	56623	INPP5E	ORPHA:220493
HP:0000496	Abnormality of eye movement	56623	INPP5E	OMIM:213300
HP:0000496	Abnormality of eye movement	56623	INPP5E	ORPHA:1454
HP:0000496	Abnormality of eye movement	56623	INPP5E	ORPHA:475
HP:0000496	Abnormality of eye movement	153241	CEP120	ORPHA:220493
HP:0000496	Abnormality of eye movement	153241	CEP120	ORPHA:475
HP:0000496	Abnormality of eye movement	153241	CEP120	OMIM:617761
HP:0000496	Abnormality of eye movement	54903	MKS1	ORPHA:220493
HP:0000496	Abnormality of eye movement	54903	MKS1	ORPHA:475
HP:0000496	Abnormality of eye movement	54903	MKS1	OMIM:617121
HP:0000496	Abnormality of eye movement	95681	CEP41	ORPHA:220493
HP:0000496	Abnormality of eye movement	95681	CEP41	ORPHA:475
HP:0000496	Abnormality of eye movement	10686	CLDN16	OMIM:248250
HP:0000496	Abnormality of eye movement	1161	ERCC8	OMIM:216400
HP:0000496	Abnormality of eye movement	1161	ERCC8	ORPHA:90324
HP:0000496	Abnormality of eye movement	1161	ERCC8	ORPHA:90321
HP:0000496	Abnormality of eye movement	1161	ERCC8	ORPHA:90322
HP:0000496	Abnormality of eye movement	55636	CHD7	ORPHA:138
HP:0000496	Abnormality of eye movement	9723	SEMA3E	ORPHA:138
HP:0000496	Abnormality of eye movement	29957	SLC25A24	ORPHA:2963
HP:0000496	Abnormality of eye movement	23418	CRB1	ORPHA:35612
HP:0000496	Abnormality of eye movement	7439	BEST1	ORPHA:35612
HP:0000496	Abnormality of eye movement	7439	BEST1	OMIM:193220
HP:0000496	Abnormality of eye movement	26022	TMEM98	ORPHA:35612
HP:0000496	Abnormality of eye movement	6657	SOX2	ORPHA:35612
HP:0000496	Abnormality of eye movement	6657	SOX2	ORPHA:3157
HP:0000496	Abnormality of eye movement	220	ALDH1A3	ORPHA:35612
HP:0000496	Abnormality of eye movement	646960	PRSS56	ORPHA:35612
HP:0000496	Abnormality of eye movement	83552	MFRP	ORPHA:35612
HP:0000496	Abnormality of eye movement	30062	RAX	ORPHA:35612
HP:0000496	Abnormality of eye movement	5015	OTX2	ORPHA:35612
HP:0000496	Abnormality of eye movement	5015	OTX2	ORPHA:3157
HP:0000496	Abnormality of eye movement	4990	SIX6	ORPHA:35612
HP:0000496	Abnormality of eye movement	6023	RMRP	ORPHA:175
HP:0000496	Abnormality of eye movement	112802	KRT71	ORPHA:170
HP:0000496	Abnormality of eye movement	121391	KRT74	ORPHA:170
HP:0000496	Abnormality of eye movement	200879	LIPH	ORPHA:170
HP:0000496	Abnormality of eye movement	10161	LPAR6	ORPHA:170
HP:0000496	Abnormality of eye movement	147183	KRT25	ORPHA:170
HP:0000496	Abnormality of eye movement	57589	RIC1	OMIM:618761
HP:0000496	Abnormality of eye movement	317662	FAM149B1	OMIM:618763
HP:0000496	Abnormality of eye movement	818	CAMK2G	OMIM:618522
HP:0000496	Abnormality of eye movement	113189	CHST14	ORPHA:2953
HP:0000496	Abnormality of eye movement	113189	CHST14	OMIM:601776
HP:0000496	Abnormality of eye movement	29940	DSE	ORPHA:2953
HP:0000496	Abnormality of eye movement	9968	MED12	ORPHA:93932
HP:0000496	Abnormality of eye movement	9968	MED12	OMIM:305450
HP:0000496	Abnormality of eye movement	9968	MED12	OMIM:300895
HP:0000496	Abnormality of eye movement	7436	VLDLR	OMIM:224050
HP:0000496	Abnormality of eye movement	7436	VLDLR	ORPHA:1766
HP:0000496	Abnormality of eye movement	7994	KAT6A	ORPHA:457193
HP:0000496	Abnormality of eye movement	7994	KAT6A	OMIM:616268
HP:0000496	Abnormality of eye movement	81857	MED25	ORPHA:464738
HP:0000496	Abnormality of eye movement	81857	MED25	OMIM:616449
HP:0000496	Abnormality of eye movement	84100	ARL6	OMIM:209900
HP:0000496	Abnormality of eye movement	79140	CCDC28B	OMIM:209900
HP:0000496	Abnormality of eye movement	582	BBS1	OMIM:209900
HP:0000496	Abnormality of eye movement	2697	GJA1	ORPHA:2710
HP:0000496	Abnormality of eye movement	1130	LYST	ORPHA:167
HP:0000496	Abnormality of eye movement	1130	LYST	OMIM:214500
HP:0000496	Abnormality of eye movement	9401	RECQL4	OMIM:218600
HP:0000496	Abnormality of eye movement	9401	RECQL4	OMIM:268400
HP:0000496	Abnormality of eye movement	4330	MN1	OMIM:618774
HP:0000496	Abnormality of eye movement	5528	PPP2R5D	OMIM:616355
HP:0000496	Abnormality of eye movement	5528	PPP2R5D	ORPHA:457279
HP:0000496	Abnormality of eye movement	3340	NDST1	OMIM:616116
HP:0000496	Abnormality of eye movement	89910	UBE3B	ORPHA:2707
HP:0000496	Abnormality of eye movement	89910	UBE3B	OMIM:244450
HP:0000496	Abnormality of eye movement	1499	CTNNB1	ORPHA:404473
HP:0000496	Abnormality of eye movement	1499	CTNNB1	OMIM:615075
HP:0000496	Abnormality of eye movement	55768	NGLY1	OMIM:615273
HP:0000496	Abnormality of eye movement	8493	PPM1D	OMIM:617450
HP:0000496	Abnormality of eye movement	91574	MTRFR	OMIM:615035
HP:0000496	Abnormality of eye movement	91574	MTRFR	ORPHA:320375
HP:0000496	Abnormality of eye movement	91574	MTRFR	OMIM:613559
HP:0000496	Abnormality of eye movement	23126	POGZ	OMIM:616364
HP:0000496	Abnormality of eye movement	23126	POGZ	ORPHA:468678
HP:0000496	Abnormality of eye movement	55773	TBC1D23	OMIM:617695
HP:0000496	Abnormality of eye movement	23259	DDHD2	OMIM:615033
HP:0000496	Abnormality of eye movement	23259	DDHD2	ORPHA:320380
HP:0000496	Abnormality of eye movement	3769	KCNJ13	OMIM:614186
HP:0000496	Abnormality of eye movement	57167	SALL4	OMIM:147750
HP:0000496	Abnormality of eye movement	57167	SALL4	ORPHA:2307
HP:0000496	Abnormality of eye movement	57167	SALL4	ORPHA:233
HP:0000496	Abnormality of eye movement	57167	SALL4	ORPHA:959
HP:0000496	Abnormality of eye movement	57167	SALL4	OMIM:607323
HP:0000496	Abnormality of eye movement	55280	CWF19L1	OMIM:616127
HP:0000496	Abnormality of eye movement	92609	TIMM50	OMIM:617698
HP:0000496	Abnormality of eye movement	51692	CPSF3	OMIM:619876
HP:0000496	Abnormality of eye movement	3098	HK1	OMIM:618547
HP:0000496	Abnormality of eye movement	5590	PRKCZ	ORPHA:1606
HP:0000496	Abnormality of eye movement	2563	GABRD	ORPHA:1606
HP:0000496	Abnormality of eye movement	23013	SPEN	ORPHA:1606
HP:0000496	Abnormality of eye movement	8510	MMP23B	ORPHA:1606
HP:0000496	Abnormality of eye movement	7798	LUZP1	ORPHA:1606
HP:0000496	Abnormality of eye movement	6497	SKI	ORPHA:1606
HP:0000496	Abnormality of eye movement	6497	SKI	ORPHA:2462
HP:0000496	Abnormality of eye movement	6497	SKI	OMIM:182212
HP:0000496	Abnormality of eye movement	10630	PDPN	ORPHA:1606
HP:0000496	Abnormality of eye movement	3339	HSPG2	ORPHA:1606
HP:0000496	Abnormality of eye movement	3339	HSPG2	ORPHA:800
HP:0000496	Abnormality of eye movement	10277	UBE4B	ORPHA:1606
HP:0000496	Abnormality of eye movement	8514	KCNAB2	ORPHA:1606
HP:0000496	Abnormality of eye movement	473	RERE	ORPHA:1606
HP:0000496	Abnormality of eye movement	473	RERE	ORPHA:494344
HP:0000496	Abnormality of eye movement	473	RERE	OMIM:616975
HP:0000496	Abnormality of eye movement	63976	PRDM16	ORPHA:1606
HP:0000496	Abnormality of eye movement	54897	CASZ1	ORPHA:1606
HP:0000496	Abnormality of eye movement	148789	B3GALNT2	ORPHA:588
HP:0000496	Abnormality of eye movement	29925	GMPPB	ORPHA:588
HP:0000496	Abnormality of eye movement	29925	GMPPB	ORPHA:370968
HP:0000496	Abnormality of eye movement	29925	GMPPB	ORPHA:370959
HP:0000496	Abnormality of eye movement	29925	GMPPB	OMIM:615351
HP:0000496	Abnormality of eye movement	79147	FKRP	ORPHA:588
HP:0000496	Abnormality of eye movement	79147	FKRP	ORPHA:370968
HP:0000496	Abnormality of eye movement	79147	FKRP	ORPHA:370959
HP:0000496	Abnormality of eye movement	9215	LARGE1	ORPHA:588
HP:0000496	Abnormality of eye movement	9215	LARGE1	ORPHA:370968
HP:0000496	Abnormality of eye movement	29954	POMT2	ORPHA:588
HP:0000496	Abnormality of eye movement	29954	POMT2	ORPHA:370968
HP:0000496	Abnormality of eye movement	29954	POMT2	ORPHA:370959
HP:0000496	Abnormality of eye movement	29954	POMT2	OMIM:613156
HP:0000496	Abnormality of eye movement	2218	FKTN	ORPHA:588
HP:0000496	Abnormality of eye movement	2218	FKTN	OMIM:253800
HP:0000496	Abnormality of eye movement	55624	POMGNT1	ORPHA:588
HP:0000496	Abnormality of eye movement	55624	POMGNT1	ORPHA:370959
HP:0000496	Abnormality of eye movement	55624	POMGNT1	OMIM:253280
HP:0000496	Abnormality of eye movement	55624	POMGNT1	OMIM:613151
HP:0000496	Abnormality of eye movement	10585	POMT1	ORPHA:588
HP:0000496	Abnormality of eye movement	10585	POMT1	ORPHA:370968
HP:0000496	Abnormality of eye movement	10585	POMT1	ORPHA:370959
HP:0000496	Abnormality of eye movement	1859	DYRK1A	ORPHA:464311
HP:0000496	Abnormality of eye movement	1859	DYRK1A	ORPHA:268261
HP:0000496	Abnormality of eye movement	9289	ADGRG1	ORPHA:101070
HP:0000496	Abnormality of eye movement	5728	PTEN	ORPHA:101070
HP:0000496	Abnormality of eye movement	5728	PTEN	ORPHA:744
HP:0000496	Abnormality of eye movement	472	ATM	ORPHA:100
HP:0000496	Abnormality of eye movement	472	ATM	OMIM:208900
HP:0000496	Abnormality of eye movement	79718	TBL1XR1	OMIM:602342
HP:0000496	Abnormality of eye movement	79718	TBL1XR1	ORPHA:487825
HP:0000496	Abnormality of eye movement	5605	MAP2K2	OMIM:615280
HP:0000496	Abnormality of eye movement	5605	MAP2K2	ORPHA:1340
HP:0000496	Abnormality of eye movement	4644	MYO5A	ORPHA:33445
HP:0000496	Abnormality of eye movement	54828	BCAS3	OMIM:619641
HP:0000496	Abnormality of eye movement	6305	SBF1	OMIM:615284
HP:0000496	Abnormality of eye movement	8818	DPM2	OMIM:615042
HP:0000496	Abnormality of eye movement	8818	DPM2	ORPHA:329178
HP:0000496	Abnormality of eye movement	3913	LAMB2	OMIM:614199
HP:0000496	Abnormality of eye movement	56098	PCDHGC4	OMIM:619880
HP:0000496	Abnormality of eye movement	113179	ADAT3	OMIM:615286
HP:0000496	Abnormality of eye movement	113179	ADAT3	ORPHA:363528
HP:0000496	Abnormality of eye movement	1742	DLG4	OMIM:618793
HP:0000496	Abnormality of eye movement	163175	LGI4	OMIM:617468
HP:0000496	Abnormality of eye movement	200424	TET3	OMIM:618798
HP:0000496	Abnormality of eye movement	9772	TMEM94	OMIM:618316
HP:0000496	Abnormality of eye movement	57192	MCOLN1	ORPHA:578
HP:0000496	Abnormality of eye movement	57192	MCOLN1	OMIM:252650
HP:0000496	Abnormality of eye movement	10667	FARS2	ORPHA:466722
HP:0000496	Abnormality of eye movement	4208	MEF2C	ORPHA:228384
HP:0000496	Abnormality of eye movement	5727	PTCH1	ORPHA:377
HP:0000496	Abnormality of eye movement	5727	PTCH1	OMIM:109400
HP:0000496	Abnormality of eye movement	5727	PTCH1	ORPHA:280200
HP:0000496	Abnormality of eye movement	5727	PTCH1	ORPHA:77301
HP:0000496	Abnormality of eye movement	8643	PTCH2	ORPHA:377
HP:0000496	Abnormality of eye movement	6843	VAMP1	OMIM:618323
HP:0000496	Abnormality of eye movement	197258	FCSK	OMIM:618324
HP:0000496	Abnormality of eye movement	345193	LRIT3	OMIM:615058
HP:0000496	Abnormality of eye movement	345193	LRIT3	ORPHA:215
HP:0000496	Abnormality of eye movement	84168	ANTXR1	OMIM:230740
HP:0000496	Abnormality of eye movement	25836	NIPBL	OMIM:122470
HP:0000496	Abnormality of eye movement	25836	NIPBL	ORPHA:199
HP:0000496	Abnormality of eye movement	23499	MACF1	OMIM:618325
HP:0000496	Abnormality of eye movement	23499	MACF1	ORPHA:572013
HP:0000496	Abnormality of eye movement	51322	WAC	ORPHA:466950
HP:0000496	Abnormality of eye movement	51322	WAC	ORPHA:284169
HP:0000496	Abnormality of eye movement	51322	WAC	OMIM:616708
HP:0000496	Abnormality of eye movement	2778	GNAS	ORPHA:79443
HP:0000496	Abnormality of eye movement	6135	RPL11	ORPHA:124
HP:0000496	Abnormality of eye movement	6138	RPL15	ORPHA:124
HP:0000496	Abnormality of eye movement	6229	RPS24	ORPHA:124
HP:0000496	Abnormality of eye movement	6125	RPL5	ORPHA:124
HP:0000496	Abnormality of eye movement	6204	RPS10	ORPHA:124
HP:0000496	Abnormality of eye movement	6224	RPS20	ORPHA:124
HP:0000496	Abnormality of eye movement	6165	RPL35A	ORPHA:124
HP:0000496	Abnormality of eye movement	2623	GATA1	ORPHA:124
HP:0000496	Abnormality of eye movement	6223	RPS19	ORPHA:124
HP:0000496	Abnormality of eye movement	6223	RPS19	OMIM:105650
HP:0000496	Abnormality of eye movement	6232	RPS27	ORPHA:124
HP:0000496	Abnormality of eye movement	6231	RPS26	ORPHA:124
HP:0000496	Abnormality of eye movement	11224	RPL35	ORPHA:124
HP:0000496	Abnormality of eye movement	6160	RPL31	ORPHA:124
HP:0000496	Abnormality of eye movement	6218	RPS17	ORPHA:124
HP:0000496	Abnormality of eye movement	6201	RPS7	ORPHA:124
HP:0000496	Abnormality of eye movement	6155	RPL27	ORPHA:124
HP:0000496	Abnormality of eye movement	6154	RPL26	ORPHA:124
HP:0000496	Abnormality of eye movement	6210	RPS15A	ORPHA:124
HP:0000496	Abnormality of eye movement	90121	TSR2	ORPHA:124
HP:0000496	Abnormality of eye movement	6141	RPL18	ORPHA:124
HP:0000496	Abnormality of eye movement	6235	RPS29	ORPHA:124
HP:0000496	Abnormality of eye movement	6234	RPS28	ORPHA:124
HP:0000496	Abnormality of eye movement	51816	ADA2	ORPHA:124
HP:0000496	Abnormality of eye movement	257	ALX3	ORPHA:391474
HP:0000496	Abnormality of eye movement	117581	TWIST2	ORPHA:1807
HP:0000496	Abnormality of eye movement	2629	GBA1	ORPHA:77261
HP:0000496	Abnormality of eye movement	2629	GBA1	ORPHA:77260
HP:0000496	Abnormality of eye movement	2629	GBA1	ORPHA:2072
HP:0000496	Abnormality of eye movement	2629	GBA1	OMIM:230900
HP:0000496	Abnormality of eye movement	2629	GBA1	OMIM:608013
HP:0000496	Abnormality of eye movement	2629	GBA1	OMIM:231005
HP:0000496	Abnormality of eye movement	2629	GBA1	OMIM:231000
HP:0000496	Abnormality of eye movement	1387	CREBBP	OMIM:618332
HP:0000496	Abnormality of eye movement	1387	CREBBP	OMIM:180849
HP:0000496	Abnormality of eye movement	1387	CREBBP	ORPHA:353277
HP:0000496	Abnormality of eye movement	2033	EP300	OMIM:618333
HP:0000496	Abnormality of eye movement	2033	EP300	OMIM:613684
HP:0000496	Abnormality of eye movement	2033	EP300	ORPHA:353284
HP:0000496	Abnormality of eye movement	2033	EP300	OMIM:180849
HP:0000496	Abnormality of eye movement	10533	ATG7	OMIM:619422
HP:0000496	Abnormality of eye movement	60529	ALX4	ORPHA:228390
HP:0000496	Abnormality of eye movement	60529	ALX4	OMIM:613451
HP:0000496	Abnormality of eye movement	60529	ALX4	ORPHA:52022
HP:0000496	Abnormality of eye movement	26173	INTS1	OMIM:618571
HP:0000496	Abnormality of eye movement	120	ADD3	OMIM:617008
HP:0000496	Abnormality of eye movement	5813	PURA	OMIM:616158
HP:0000496	Abnormality of eye movement	7306	TYRP1	ORPHA:79433
HP:0000496	Abnormality of eye movement	7306	TYRP1	OMIM:203290
HP:0000496	Abnormality of eye movement	7291	TWIST1	ORPHA:794
HP:0000496	Abnormality of eye movement	7291	TWIST1	OMIM:180750
HP:0000496	Abnormality of eye movement	7291	TWIST1	OMIM:101400
HP:0000496	Abnormality of eye movement	2263	FGFR2	ORPHA:794
HP:0000496	Abnormality of eye movement	2263	FGFR2	OMIM:123500
HP:0000496	Abnormality of eye movement	2263	FGFR2	ORPHA:87
HP:0000496	Abnormality of eye movement	2263	FGFR2	OMIM:101400
HP:0000496	Abnormality of eye movement	2263	FGFR2	OMIM:101200
HP:0000496	Abnormality of eye movement	2263	FGFR2	ORPHA:207
HP:0000496	Abnormality of eye movement	2263	FGFR2	OMIM:101600
HP:0000496	Abnormality of eye movement	2263	FGFR2	ORPHA:1540
HP:0000496	Abnormality of eye movement	2261	FGFR3	ORPHA:794
HP:0000496	Abnormality of eye movement	2261	FGFR3	ORPHA:93262
HP:0000496	Abnormality of eye movement	2261	FGFR3	OMIM:602849
HP:0000496	Abnormality of eye movement	9949	AMMECR1	OMIM:300990
HP:0000496	Abnormality of eye movement	9949	AMMECR1	ORPHA:86818
HP:0000496	Abnormality of eye movement	2074	ERCC6	OMIM:133540
HP:0000496	Abnormality of eye movement	2074	ERCC6	ORPHA:90324
HP:0000496	Abnormality of eye movement	2074	ERCC6	ORPHA:90321
HP:0000496	Abnormality of eye movement	2074	ERCC6	ORPHA:90322
HP:0000496	Abnormality of eye movement	2074	ERCC6	OMIM:278800
HP:0000496	Abnormality of eye movement	22827	PUF60	ORPHA:508498
HP:0000496	Abnormality of eye movement	22827	PUF60	ORPHA:508488
HP:0000496	Abnormality of eye movement	51574	LARP7	OMIM:615071
HP:0000496	Abnormality of eye movement	51574	LARP7	ORPHA:319671
HP:0000496	Abnormality of eye movement	57459	GATAD2B	OMIM:615074
HP:0000496	Abnormality of eye movement	57459	GATAD2B	ORPHA:363686
HP:0000496	Abnormality of eye movement	56896	DPYSL5	OMIM:619435
HP:0000496	Abnormality of eye movement	10765	KDM5B	OMIM:618109
HP:0000496	Abnormality of eye movement	8573	CASK	OMIM:300749
HP:0000496	Abnormality of eye movement	8573	CASK	ORPHA:163937
HP:0000496	Abnormality of eye movement	8573	CASK	ORPHA:1934
HP:0000496	Abnormality of eye movement	6418	SET	OMIM:618106
HP:0000496	Abnormality of eye movement	55746	NUP133	OMIM:618349
HP:0000496	Abnormality of eye movement	9526	MPDU1	OMIM:609180
HP:0000496	Abnormality of eye movement	50814	NSDHL	ORPHA:251383
HP:0000496	Abnormality of eye movement	50814	NSDHL	OMIM:300831
HP:0000496	Abnormality of eye movement	7681	MKRN3	OMIM:176270
HP:0000496	Abnormality of eye movement	3653	IPW	OMIM:176270
HP:0000496	Abnormality of eye movement	54551	MAGEL2	OMIM:176270
HP:0000496	Abnormality of eye movement	54551	MAGEL2	ORPHA:398069
HP:0000496	Abnormality of eye movement	54551	MAGEL2	ORPHA:98754
HP:0000496	Abnormality of eye movement	54551	MAGEL2	ORPHA:177904
HP:0000496	Abnormality of eye movement	54551	MAGEL2	ORPHA:177901
HP:0000496	Abnormality of eye movement	791114	PWRN1	OMIM:176270
HP:0000496	Abnormality of eye movement	100033413	SNORD116-1	OMIM:176270
HP:0000496	Abnormality of eye movement	8924	HERC2	OMIM:176270
HP:0000496	Abnormality of eye movement	8924	HERC2	OMIM:615516
HP:0000496	Abnormality of eye movement	145624	PWAR1	OMIM:176270
HP:0000496	Abnormality of eye movement	23742	NPAP1	OMIM:176270
HP:0000496	Abnormality of eye movement	338433	SNORD115-1	OMIM:176270
HP:0000496	Abnormality of eye movement	128869	PIGU	OMIM:618590
HP:0000496	Abnormality of eye movement	27125	AFF4	ORPHA:444077
HP:0000496	Abnormality of eye movement	2972	BRF1	ORPHA:444072
HP:0000496	Abnormality of eye movement	2972	BRF1	OMIM:616202
HP:0000496	Abnormality of eye movement	11277	TREX1	OMIM:225750
HP:0000496	Abnormality of eye movement	116461	TSEN15	OMIM:617026
HP:0000496	Abnormality of eye movement	57520	HECW2	OMIM:617268
HP:0000496	Abnormality of eye movement	8492	PRSS12	OMIM:249500
HP:0000496	Abnormality of eye movement	6492	SIM1	ORPHA:171829
HP:0000496	Abnormality of eye movement	6492	SIM1	ORPHA:398079
HP:0000496	Abnormality of eye movement	4952	OCRL	ORPHA:534
HP:0000496	Abnormality of eye movement	7337	UBE3A	ORPHA:98794
HP:0000496	Abnormality of eye movement	7337	UBE3A	ORPHA:411511
HP:0000496	Abnormality of eye movement	7337	UBE3A	OMIM:105830
HP:0000496	Abnormality of eye movement	4948	OCA2	ORPHA:98794
HP:0000496	Abnormality of eye movement	4948	OCA2	ORPHA:98754
HP:0000496	Abnormality of eye movement	4948	OCA2	ORPHA:177904
HP:0000496	Abnormality of eye movement	4948	OCA2	ORPHA:177901
HP:0000496	Abnormality of eye movement	4948	OCA2	OMIM:203200
HP:0000496	Abnormality of eye movement	5934	RBL2	OMIM:619690
HP:0000496	Abnormality of eye movement	5980	REV3L	ORPHA:570
HP:0000496	Abnormality of eye movement	23129	PLXND1	ORPHA:570
HP:0000496	Abnormality of eye movement	347733	TUBB2B	ORPHA:467166
HP:0000496	Abnormality of eye movement	347733	TUBB2B	ORPHA:1766
HP:0000496	Abnormality of eye movement	347733	TUBB2B	ORPHA:300573
HP:0000496	Abnormality of eye movement	7846	TUBA1A	ORPHA:467166
HP:0000496	Abnormality of eye movement	7846	TUBA1A	ORPHA:171680
HP:0000496	Abnormality of eye movement	10381	TUBB3	ORPHA:467166
HP:0000496	Abnormality of eye movement	10381	TUBB3	OMIM:614039
HP:0000496	Abnormality of eye movement	10381	TUBB3	ORPHA:300570
HP:0000496	Abnormality of eye movement	8888	MCM3AP	OMIM:618124
HP:0000496	Abnormality of eye movement	51434	ANAPC7	OMIM:619699
HP:0000496	Abnormality of eye movement	4998	ORC1	OMIM:224690
HP:0000496	Abnormality of eye movement	5308	PITX2	OMIM:180500
HP:0000496	Abnormality of eye movement	5308	PITX2	ORPHA:708
HP:0000496	Abnormality of eye movement	1312	COMT	ORPHA:567
HP:0000496	Abnormality of eye movement	221037	JMJD1C	ORPHA:567
HP:0000496	Abnormality of eye movement	2812	GP1BB	ORPHA:567
HP:0000496	Abnormality of eye movement	6239	RREB1	ORPHA:567
HP:0000496	Abnormality of eye movement	6899	TBX1	ORPHA:567
HP:0000496	Abnormality of eye movement	7290	HIRA	ORPHA:567
HP:0000496	Abnormality of eye movement	9632	SEC24C	ORPHA:567
HP:0000496	Abnormality of eye movement	7353	UFD1	ORPHA:567
HP:0000496	Abnormality of eye movement	421	ARVCF	ORPHA:567
HP:0000496	Abnormality of eye movement	1009	CDH11	OMIM:211380
HP:0000496	Abnormality of eye movement	1009	CDH11	ORPHA:1299
HP:0000496	Abnormality of eye movement	3858	KRT10	OMIM:609165
HP:0000496	Abnormality of eye movement	6045	RNF2	OMIM:619460
HP:0000496	Abnormality of eye movement	2068	ERCC2	OMIM:601675
HP:0000496	Abnormality of eye movement	2068	ERCC2	ORPHA:33364
HP:0000496	Abnormality of eye movement	2068	ERCC2	ORPHA:910
HP:0000496	Abnormality of eye movement	1301	COL11A1	ORPHA:560
HP:0000496	Abnormality of eye movement	7086	TKT	OMIM:617044
HP:0000496	Abnormality of eye movement	164	AP1G1	OMIM:619467
HP:0000496	Abnormality of eye movement	9757	KMT2B	OMIM:617284
HP:0000496	Abnormality of eye movement	9757	KMT2B	ORPHA:589618
HP:0000496	Abnormality of eye movement	9757	KMT2B	OMIM:619934
HP:0000496	Abnormality of eye movement	9758	FRMPD4	OMIM:300983
HP:0000496	Abnormality of eye movement	8802	SUCLG1	ORPHA:17
HP:0000496	Abnormality of eye movement	64374	SIL1	ORPHA:559
HP:0000496	Abnormality of eye movement	64374	SIL1	OMIM:248800
HP:0000496	Abnormality of eye movement	51763	INPP5K	ORPHA:559
HP:0000496	Abnormality of eye movement	51763	INPP5K	OMIM:617404
HP:0000496	Abnormality of eye movement	4763	NF1	ORPHA:97685
HP:0000496	Abnormality of eye movement	84065	TMEM222	OMIM:619470
HP:0000496	Abnormality of eye movement	9321	TRIP11	ORPHA:166272
HP:0000496	Abnormality of eye movement	83480	PUS3	OMIM:617051
HP:0000496	Abnormality of eye movement	83480	PUS3	ORPHA:488627
HP:0000496	Abnormality of eye movement	9851	KIAA0753	OMIM:619476
HP:0000496	Abnormality of eye movement	57498	KIDINS220	OMIM:617296
HP:0000496	Abnormality of eye movement	57187	THOC2	OMIM:300957
HP:0000496	Abnormality of eye movement	57187	THOC2	ORPHA:457240
HP:0000496	Abnormality of eye movement	64840	PORCN	ORPHA:2092
HP:0000496	Abnormality of eye movement	64840	PORCN	OMIM:305600
HP:0000496	Abnormality of eye movement	54539	NDUFB11	OMIM:300952
HP:0000496	Abnormality of eye movement	54539	NDUFB11	ORPHA:2609
HP:0000496	Abnormality of eye movement	6711	SPTBN1	OMIM:619475
HP:0000496	Abnormality of eye movement	80036	TRPM3	OMIM:620224
HP:0000496	Abnormality of eye movement	57010	CABP4	OMIM:610427
HP:0000496	Abnormality of eye movement	57010	CABP4	ORPHA:215
HP:0000496	Abnormality of eye movement	63895	PIEZO2	OMIM:108145
HP:0000496	Abnormality of eye movement	63895	PIEZO2	OMIM:248700
HP:0000496	Abnormality of eye movement	11198	SUPT16H	OMIM:619480
HP:0000496	Abnormality of eye movement	283446	MYO1H	OMIM:619482
HP:0000496	Abnormality of eye movement	84197	POMK	ORPHA:370959
HP:0000496	Abnormality of eye movement	6872	TAF1	OMIM:300966
HP:0000496	Abnormality of eye movement	6872	TAF1	ORPHA:480907
HP:0000496	Abnormality of eye movement	8567	MADD	OMIM:619004
HP:0000496	Abnormality of eye movement	4841	NONO	OMIM:300967
HP:0000496	Abnormality of eye movement	4841	NONO	ORPHA:466791
HP:0000496	Abnormality of eye movement	8239	USP9X	OMIM:300968
HP:0000496	Abnormality of eye movement	8239	USP9X	ORPHA:480880
HP:0000496	Abnormality of eye movement	8318	CDC45	OMIM:617063
HP:0000496	Abnormality of eye movement	57477	SHROOM4	ORPHA:85288
HP:0000496	Abnormality of eye movement	9508	ADAMTS3	OMIM:618154
HP:0000496	Abnormality of eye movement	1654	DDX3X	OMIM:300958
HP:0000496	Abnormality of eye movement	3419	IDH3A	OMIM:619007
HP:0000496	Abnormality of eye movement	23096	IQSEC2	OMIM:309530
HP:0000496	Abnormality of eye movement	23096	IQSEC2	ORPHA:819
HP:0000496	Abnormality of eye movement	23096	IQSEC2	ORPHA:397933
HP:0000496	Abnormality of eye movement	55717	WDR11	OMIM:620237
HP:0000496	Abnormality of eye movement	3516	RBPJ	ORPHA:974
HP:0000496	Abnormality of eye movement	4851	NOTCH1	ORPHA:974
HP:0000496	Abnormality of eye movement	57514	ARHGAP31	ORPHA:974
HP:0000496	Abnormality of eye movement	57572	DOCK6	ORPHA:974
HP:0000496	Abnormality of eye movement	57572	DOCK6	OMIM:614219
HP:0000496	Abnormality of eye movement	285203	EOGT	ORPHA:974
HP:0000496	Abnormality of eye movement	54567	DLL4	ORPHA:974
HP:0000496	Abnormality of eye movement	673	BRAF	OMIM:613706
HP:0000496	Abnormality of eye movement	673	BRAF	OMIM:115150
HP:0000496	Abnormality of eye movement	673	BRAF	ORPHA:1340
HP:0000496	Abnormality of eye movement	80267	EDEM3	OMIM:619493
HP:0000496	Abnormality of eye movement	6748	SSR4	ORPHA:370927
HP:0000496	Abnormality of eye movement	6748	SSR4	OMIM:300934
HP:0000496	Abnormality of eye movement	6720	SREBF1	OMIM:619016
HP:0000496	Abnormality of eye movement	10479	SLC9A6	ORPHA:85278
HP:0000496	Abnormality of eye movement	10479	SLC9A6	OMIM:300243
HP:0000496	Abnormality of eye movement	8242	KDM5C	ORPHA:85279
HP:0000496	Abnormality of eye movement	8242	KDM5C	OMIM:300534
HP:0000496	Abnormality of eye movement	89970	RSPRY1	ORPHA:457395
HP:0000496	Abnormality of eye movement	89970	RSPRY1	OMIM:616723
HP:0000496	Abnormality of eye movement	51594	NBAS	OMIM:614800
HP:0000496	Abnormality of eye movement	8831	SYNGAP1	OMIM:612621
HP:0000496	Abnormality of eye movement	54187	NANS	OMIM:610442
HP:0000496	Abnormality of eye movement	284058	KANSL1	OMIM:610443
HP:0000496	Abnormality of eye movement	284058	KANSL1	ORPHA:363958
HP:0000496	Abnormality of eye movement	284058	KANSL1	ORPHA:363965
HP:0000496	Abnormality of eye movement	11043	MID2	OMIM:300928
HP:0000496	Abnormality of eye movement	10079	ATP9A	OMIM:620242
HP:0000496	Abnormality of eye movement	2801	GOLGA2	OMIM:620240
HP:0000496	Abnormality of eye movement	54936	ADPRS	OMIM:618170
HP:0000496	Abnormality of eye movement	1513	CTSK	ORPHA:763
HP:0000496	Abnormality of eye movement	55181	SMG8	OMIM:619268
HP:0000496	Abnormality of eye movement	55294	FBXW7	OMIM:620012
HP:0000496	Abnormality of eye movement	2260	FGFR1	ORPHA:3157
HP:0000496	Abnormality of eye movement	2260	FGFR1	ORPHA:280200
HP:0000496	Abnormality of eye movement	2260	FGFR1	OMIM:101600
HP:0000496	Abnormality of eye movement	128674	PROKR2	ORPHA:3157
HP:0000496	Abnormality of eye movement	6658	SOX3	ORPHA:3157
HP:0000496	Abnormality of eye movement	9915	ARNT2	ORPHA:3157
HP:0000496	Abnormality of eye movement	8820	HESX1	ORPHA:3157
HP:0000496	Abnormality of eye movement	8085	KMT2D	OMIM:147920
HP:0000496	Abnormality of eye movement	8085	KMT2D	ORPHA:2322
HP:0000496	Abnormality of eye movement	7403	KDM6A	OMIM:147920
HP:0000496	Abnormality of eye movement	7403	KDM6A	ORPHA:2322
HP:0000496	Abnormality of eye movement	7403	KDM6A	OMIM:300867
HP:0000496	Abnormality of eye movement	6095	RORA	OMIM:618060
HP:0000496	Abnormality of eye movement	1183	CLCN4	OMIM:300114
HP:0000496	Abnormality of eye movement	1183	CLCN4	ORPHA:485350
HP:0000496	Abnormality of eye movement	23241	PACS2	OMIM:618067
HP:0000496	Abnormality of eye movement	7355	SLC35A2	ORPHA:356961
HP:0000496	Abnormality of eye movement	84282	RNF135	ORPHA:137634
HP:0000496	Abnormality of eye movement	57539	WDR35	OMIM:613610
HP:0000496	Abnormality of eye movement	123263	MTFMT	OMIM:614947
HP:0000496	Abnormality of eye movement	123263	MTFMT	ORPHA:255241
HP:0000496	Abnormality of eye movement	9839	ZEB2	OMIM:235730
HP:0000496	Abnormality of eye movement	9839	ZEB2	ORPHA:261552
HP:0000496	Abnormality of eye movement	9839	ZEB2	ORPHA:261537
HP:0000496	Abnormality of eye movement	64324	NSD1	ORPHA:821
HP:0000496	Abnormality of eye movement	64324	NSD1	OMIM:117550
HP:0000496	Abnormality of eye movement	29072	SETD2	ORPHA:821
HP:0000496	Abnormality of eye movement	10297	APC2	ORPHA:821
HP:0000496	Abnormality of eye movement	10093	ARPC4	OMIM:620141
HP:0000496	Abnormality of eye movement	9241	NOG	ORPHA:3250
HP:0000496	Abnormality of eye movement	9241	NOG	OMIM:186500
HP:0000496	Abnormality of eye movement	8200	GDF5	ORPHA:3250
HP:0000496	Abnormality of eye movement	80232	WDR26	ORPHA:513456
HP:0000496	Abnormality of eye movement	80232	WDR26	OMIM:617616
HP:0000496	Abnormality of eye movement	146167	SLC38A8	OMIM:609218
HP:0000496	Abnormality of eye movement	1278	COL1A2	ORPHA:230851
HP:0000496	Abnormality of eye movement	4010	LMX1B	ORPHA:495818
HP:0000496	Abnormality of eye movement	6812	STXBP1	ORPHA:495818
HP:0000496	Abnormality of eye movement	2314	FLII	ORPHA:819
HP:0000496	Abnormality of eye movement	10522	DEAF1	ORPHA:819
HP:0000496	Abnormality of eye movement	169522	KCNV2	OMIM:610356
HP:0000496	Abnormality of eye movement	1717	DHCR7	ORPHA:818
HP:0000496	Abnormality of eye movement	1717	DHCR7	OMIM:270400
HP:0000496	Abnormality of eye movement	55780	ERMARD	ORPHA:75857
HP:0000496	Abnormality of eye movement	55780	ERMARD	OMIM:615544
HP:0000496	Abnormality of eye movement	10978	CLP1	OMIM:615803
HP:0000496	Abnormality of eye movement	10978	CLP1	ORPHA:411493
HP:0000496	Abnormality of eye movement	5979	RET	ORPHA:99803
HP:0000496	Abnormality of eye movement	429	ASCL1	ORPHA:99803
HP:0000496	Abnormality of eye movement	8929	PHOX2B	ORPHA:99803
HP:0000496	Abnormality of eye movement	10225	CD96	OMIM:211750
HP:0000496	Abnormality of eye movement	10225	CD96	ORPHA:1308
HP:0000496	Abnormality of eye movement	271	AMPD2	OMIM:615809
HP:0000496	Abnormality of eye movement	63915	BLOC1S5	OMIM:619172
HP:0000496	Abnormality of eye movement	56992	KIF15	ORPHA:261323
HP:0000496	Abnormality of eye movement	8913	CACNA1G	OMIM:618087
HP:0000496	Abnormality of eye movement	8913	CACNA1G	ORPHA:458803
HP:0000496	Abnormality of eye movement	80204	FBXO11	OMIM:618089
HP:0000496	Abnormality of eye movement	1716	DGUOK	ORPHA:329314
HP:0000496	Abnormality of eye movement	23325	WASHC4	OMIM:615817
HP:0000496	Abnormality of eye movement	672	BRCA1	ORPHA:84
HP:0000496	Abnormality of eye movement	10459	MAD2L2	ORPHA:84
HP:0000496	Abnormality of eye movement	7516	XRCC2	ORPHA:84
HP:0000496	Abnormality of eye movement	29089	UBE2T	ORPHA:84
HP:0000496	Abnormality of eye movement	675	BRCA2	ORPHA:84
HP:0000496	Abnormality of eye movement	55120	FANCL	ORPHA:84
HP:0000496	Abnormality of eye movement	2177	FANCD2	ORPHA:84
HP:0000496	Abnormality of eye movement	2177	FANCD2	OMIM:227646
HP:0000496	Abnormality of eye movement	2175	FANCA	ORPHA:84
HP:0000496	Abnormality of eye movement	2175	FANCA	OMIM:227650
HP:0000496	Abnormality of eye movement	2187	FANCB	ORPHA:84
HP:0000496	Abnormality of eye movement	2176	FANCC	ORPHA:84
HP:0000496	Abnormality of eye movement	2176	FANCC	OMIM:227645
HP:0000496	Abnormality of eye movement	2178	FANCE	ORPHA:84
HP:0000496	Abnormality of eye movement	2178	FANCE	OMIM:600901
HP:0000496	Abnormality of eye movement	2188	FANCF	ORPHA:84
HP:0000496	Abnormality of eye movement	2189	FANCG	ORPHA:84
HP:0000496	Abnormality of eye movement	5888	RAD51	ORPHA:84
HP:0000496	Abnormality of eye movement	5889	RAD51C	ORPHA:84
HP:0000496	Abnormality of eye movement	55159	RFWD3	ORPHA:84
HP:0000496	Abnormality of eye movement	83990	BRIP1	ORPHA:84
HP:0000496	Abnormality of eye movement	57697	FANCM	ORPHA:84
HP:0000496	Abnormality of eye movement	79728	PALB2	ORPHA:84
HP:0000496	Abnormality of eye movement	84464	SLX4	ORPHA:84
HP:0000496	Abnormality of eye movement	2072	ERCC4	ORPHA:84
HP:0000496	Abnormality of eye movement	2072	ERCC4	ORPHA:90321
HP:0000496	Abnormality of eye movement	2072	ERCC4	ORPHA:910
HP:0000496	Abnormality of eye movement	55215	FANCI	ORPHA:84
HP:0000496	Abnormality of eye movement	222663	SCUBE3	OMIM:619184
HP:0000496	Abnormality of eye movement	23400	ATP13A2	ORPHA:513436
HP:0000496	Abnormality of eye movement	79152	FA2H	ORPHA:329308
HP:0000496	Abnormality of eye movement	79152	FA2H	OMIM:612319
HP:0000496	Abnormality of eye movement	6999	TDO2	OMIM:600627
HP:0000496	Abnormality of eye movement	23036	ZNF292	OMIM:619188
HP:0000496	Abnormality of eye movement	6885	MAP3K7	OMIM:157800
HP:0000496	Abnormality of eye movement	7020	TFAP2A	ORPHA:1297
HP:0000496	Abnormality of eye movement	7020	TFAP2A	OMIM:113620
HP:0000496	Abnormality of eye movement	11160	ERLIN2	OMIM:611225
HP:0000496	Abnormality of eye movement	83879	CDCA7	OMIM:616910
HP:0000496	Abnormality of eye movement	25942	SIN3A	OMIM:613406
HP:0000496	Abnormality of eye movement	25942	SIN3A	ORPHA:94065
HP:0000496	Abnormality of eye movement	53834	FGFRL1	OMIM:194190
HP:0000496	Abnormality of eye movement	1487	CTBP1	OMIM:194190
HP:0000496	Abnormality of eye movement	1487	CTBP1	ORPHA:280
HP:0000496	Abnormality of eye movement	3954	LETM1	OMIM:194190
HP:0000496	Abnormality of eye movement	3954	LETM1	ORPHA:280
HP:0000496	Abnormality of eye movement	7468	NSD2	OMIM:194190
HP:0000496	Abnormality of eye movement	7468	NSD2	ORPHA:280
HP:0000496	Abnormality of eye movement	10815	CPLX1	OMIM:194190
HP:0000496	Abnormality of eye movement	10815	CPLX1	ORPHA:280
HP:0000496	Abnormality of eye movement	10815	CPLX1	OMIM:617976
HP:0000496	Abnormality of eye movement	9487	PIGL	ORPHA:3474
HP:0000496	Abnormality of eye movement	9487	PIGL	OMIM:280000
HP:0000496	Abnormality of eye movement	54496	PRMT7	ORPHA:464288
HP:0000496	Abnormality of eye movement	54496	PRMT7	OMIM:617157
HP:0000496	Abnormality of eye movement	165	AEBP1	ORPHA:536532
HP:0000496	Abnormality of eye movement	3192	HNRNPU	ORPHA:238769
HP:0000496	Abnormality of eye movement	1798	DPAGT1	ORPHA:86309
HP:0000496	Abnormality of eye movement	7025	NR2F1	ORPHA:401777
HP:0000496	Abnormality of eye movement	7025	NR2F1	OMIM:615722
HP:0000496	Abnormality of eye movement	51114	ZDHHC9	OMIM:300799
HP:0000496	Abnormality of eye movement	116442	RAB39B	ORPHA:2379
HP:0000496	Abnormality of eye movement	23533	PIK3R5	ORPHA:64753
HP:0000496	Abnormality of eye movement	23064	SETX	ORPHA:64753
HP:0000496	Abnormality of eye movement	23064	SETX	OMIM:606002
HP:0000496	Abnormality of eye movement	10908	PNPLA6	ORPHA:2377
HP:0000496	Abnormality of eye movement	26053	AUTS2	OMIM:615834
HP:0000496	Abnormality of eye movement	26053	AUTS2	ORPHA:352490
HP:0000496	Abnormality of eye movement	79753	SNIP1	OMIM:614501
HP:0000496	Abnormality of eye movement	1650	DDOST	OMIM:614507
HP:0000496	Abnormality of eye movement	23345	SYNE1	ORPHA:319332
HP:0000496	Abnormality of eye movement	23345	SYNE1	ORPHA:88644
HP:0000496	Abnormality of eye movement	23345	SYNE1	OMIM:610743
HP:0000496	Abnormality of eye movement	23345	SYNE1	OMIM:618484
HP:0000496	Abnormality of eye movement	54499	TMCO1	OMIM:213980
HP:0000496	Abnormality of eye movement	54499	TMCO1	ORPHA:1394
HP:0000496	Abnormality of eye movement	2259	FGF14	ORPHA:98764
HP:0000496	Abnormality of eye movement	2259	FGF14	OMIM:193003
HP:0000496	Abnormality of eye movement	492	ATP2B3	OMIM:302500
HP:0000496	Abnormality of eye movement	492	ATP2B3	ORPHA:314978
HP:0000496	Abnormality of eye movement	4784	NFIX	OMIM:614753
HP:0000496	Abnormality of eye movement	4784	NFIX	ORPHA:420179
HP:0000496	Abnormality of eye movement	440138	ALG11	OMIM:613661
HP:0000496	Abnormality of eye movement	440138	ALG11	ORPHA:280071
HP:0000496	Abnormality of eye movement	182	JAG1	OMIM:118450
HP:0000496	Abnormality of eye movement	55906	ZC4H2	ORPHA:3454
HP:0000496	Abnormality of eye movement	6638	SNRPN	ORPHA:98754
HP:0000496	Abnormality of eye movement	6638	SNRPN	ORPHA:177904
HP:0000496	Abnormality of eye movement	6638	SNRPN	ORPHA:177901
HP:0000496	Abnormality of eye movement	6638	SNRPN	ORPHA:177907
HP:0000496	Abnormality of eye movement	6638	SNRPN	OMIM:105830
HP:0000496	Abnormality of eye movement	4692	NDN	ORPHA:98754
HP:0000496	Abnormality of eye movement	4692	NDN	ORPHA:177904
HP:0000496	Abnormality of eye movement	4692	NDN	ORPHA:177901
HP:0000496	Abnormality of eye movement	8813	DPM1	OMIM:608799
HP:0000496	Abnormality of eye movement	8813	DPM1	ORPHA:79322
HP:0000496	Abnormality of eye movement	55670	PEX26	ORPHA:44
HP:0000496	Abnormality of eye movement	5824	PEX19	ORPHA:44
HP:0000496	Abnormality of eye movement	5828	PEX2	ORPHA:44
HP:0000496	Abnormality of eye movement	8504	PEX3	ORPHA:44
HP:0000496	Abnormality of eye movement	9409	PEX16	ORPHA:44
HP:0000496	Abnormality of eye movement	5190	PEX6	ORPHA:44
HP:0000496	Abnormality of eye movement	8799	PEX11B	ORPHA:44
HP:0000496	Abnormality of eye movement	5830	PEX5	ORPHA:44
HP:0000496	Abnormality of eye movement	5189	PEX1	ORPHA:44
HP:0000496	Abnormality of eye movement	5193	PEX12	ORPHA:44
HP:0000496	Abnormality of eye movement	5194	PEX13	ORPHA:44
HP:0000496	Abnormality of eye movement	5195	PEX14	ORPHA:44
HP:0000496	Abnormality of eye movement	5192	PEX10	ORPHA:44
HP:0000496	Abnormality of eye movement	55084	SOBP	OMIM:613671
HP:0000496	Abnormality of eye movement	6949	TCOF1	OMIM:154500
HP:0000496	Abnormality of eye movement	6949	TCOF1	ORPHA:861
HP:0000496	Abnormality of eye movement	27086	FOXP1	OMIM:613670
HP:0000496	Abnormality of eye movement	27086	FOXP1	ORPHA:391372
HP:0000496	Abnormality of eye movement	340024	SLC6A19	ORPHA:2116
HP:0000496	Abnormality of eye movement	57393	CLTRN	ORPHA:2116
HP:0000496	Abnormality of eye movement	55275	VPS53	OMIM:615851
HP:0000496	Abnormality of eye movement	2146	EZH2	OMIM:277590
HP:0000496	Abnormality of eye movement	64116	SLC39A8	ORPHA:468699
HP:0000496	Abnormality of eye movement	64116	SLC39A8	OMIM:616721
HP:0000496	Abnormality of eye movement	2776	GNAQ	ORPHA:3205
HP:0000496	Abnormality of eye movement	8943	AP3D1	ORPHA:54
HP:0000496	Abnormality of eye movement	8943	AP3D1	ORPHA:1000
HP:0000496	Abnormality of eye movement	4935	GPR143	ORPHA:54
HP:0000496	Abnormality of eye movement	171023	ASXL1	OMIM:605039
HP:0000496	Abnormality of eye movement	55023	PHIP	ORPHA:589905
HP:0000496	Abnormality of eye movement	55023	PHIP	OMIM:617991
HP:0000496	Abnormality of eye movement	2316	FLNA	OMIM:309350
HP:0000496	Abnormality of eye movement	2316	FLNA	OMIM:300049
HP:0000496	Abnormality of eye movement	51134	CEP83	OMIM:615862
HP:0000496	Abnormality of eye movement	22907	DHX30	OMIM:617804
HP:0000496	Abnormality of eye movement	9990	SLC12A6	ORPHA:1496
HP:0000496	Abnormality of eye movement	7319	UBE2A	ORPHA:163956
HP:0000496	Abnormality of eye movement	57165	GJC2	OMIM:613206
HP:0000496	Abnormality of eye movement	57165	GJC2	ORPHA:320401
HP:0000496	Abnormality of eye movement	339453	TMEM240	OMIM:607454
HP:0000496	Abnormality of eye movement	9230	RAB11B	OMIM:617807
HP:0000496	Abnormality of eye movement	7490	WT1	OMIM:106210
HP:0000496	Abnormality of eye movement	5080	PAX6	OMIM:106210
HP:0000496	Abnormality of eye movement	5080	PAX6	ORPHA:35737
HP:0000496	Abnormality of eye movement	5080	PAX6	ORPHA:708
HP:0000496	Abnormality of eye movement	5080	PAX6	ORPHA:2253
HP:0000496	Abnormality of eye movement	5080	PAX6	OMIM:604229
HP:0000496	Abnormality of eye movement	10075	HUWE1	OMIM:309590
HP:0000496	Abnormality of eye movement	6513	SLC2A1	ORPHA:71277
HP:0000496	Abnormality of eye movement	2245	FGD1	OMIM:305400
HP:0000496	Abnormality of eye movement	2245	FGD1	ORPHA:915
HP:0000496	Abnormality of eye movement	124997	WDR81	OMIM:610185
HP:0000496	Abnormality of eye movement	124997	WDR81	ORPHA:1766
HP:0000496	Abnormality of eye movement	79848	CSPP1	OMIM:615636
HP:0000496	Abnormality of eye movement	79848	CSPP1	ORPHA:475
HP:0000496	Abnormality of eye movement	29123	ANKRD11	ORPHA:2332
HP:0000496	Abnormality of eye movement	29123	ANKRD11	ORPHA:261250
HP:0000496	Abnormality of eye movement	6334	SCN8A	OMIM:614306
HP:0000496	Abnormality of eye movement	4308	TRPM1	OMIM:613216
HP:0000496	Abnormality of eye movement	4308	TRPM1	ORPHA:215
HP:0000496	Abnormality of eye movement	10586	MAB21L2	OMIM:615877
HP:0000496	Abnormality of eye movement	23028	KDM1A	OMIM:616728
HP:0000496	Abnormality of eye movement	23028	KDM1A	ORPHA:477993
HP:0000496	Abnormality of eye movement	4693	NDP	ORPHA:91495
HP:0000496	Abnormality of eye movement	4693	NDP	ORPHA:190
HP:0000496	Abnormality of eye movement	220202	ATOH7	ORPHA:91495
HP:0000496	Abnormality of eye movement	8322	FZD4	ORPHA:91495
HP:0000496	Abnormality of eye movement	55593	OTUD5	OMIM:301056
HP:0000496	Abnormality of eye movement	84162	BLTP1	OMIM:617822
HP:0000496	Abnormality of eye movement	2902	GRIN1	OMIM:617820
HP:0000496	Abnormality of eye movement	2902	GRIN1	ORPHA:1934
HP:0000496	Abnormality of eye movement	23291	FBXW11	OMIM:618914
HP:0000496	Abnormality of eye movement	2782	GNB1	OMIM:616973
HP:0000496	Abnormality of eye movement	2782	GNB1	ORPHA:488613
HP:0000496	Abnormality of eye movement	5076	PAX2	ORPHA:1475
HP:0000496	Abnormality of eye movement	5076	PAX2	OMIM:120330
HP:0000496	Abnormality of eye movement	10413	YAP1	ORPHA:1473
HP:0000496	Abnormality of eye movement	50	ACO2	OMIM:614559
HP:0000496	Abnormality of eye movement	10982	MAPRE2	OMIM:616734
HP:0000496	Abnormality of eye movement	767	CA8	OMIM:613227
HP:0000496	Abnormality of eye movement	767	CA8	ORPHA:1766
HP:0000496	Abnormality of eye movement	84679	SLC9A7	OMIM:301024
HP:0000496	Abnormality of eye movement	2239	GPC4	OMIM:301026
HP:0000496	Abnormality of eye movement	2332	FMR1	ORPHA:449291
HP:0000496	Abnormality of eye movement	2332	FMR1	ORPHA:908
HP:0000496	Abnormality of eye movement	2200	FBN1	OMIM:154700
HP:0000496	Abnormality of eye movement	2200	FBN1	ORPHA:2833
HP:0000496	Abnormality of eye movement	2200	FBN1	ORPHA:2462
HP:0000496	Abnormality of eye movement	63035	BCORL1	OMIM:301029
HP:0000496	Abnormality of eye movement	85358	SHANK3	ORPHA:48652
HP:0000496	Abnormality of eye movement	85358	SHANK3	OMIM:606232
HP:0000496	Abnormality of eye movement	440435	GPR179	OMIM:614565
HP:0000496	Abnormality of eye movement	440435	GPR179	ORPHA:215
HP:0000496	Abnormality of eye movement	6597	SMARCA4	ORPHA:1465
HP:0000496	Abnormality of eye movement	6659	SOX4	ORPHA:1465
HP:0000496	Abnormality of eye movement	8289	ARID1A	ORPHA:1465
HP:0000496	Abnormality of eye movement	8289	ARID1A	OMIM:614607
HP:0000496	Abnormality of eye movement	5977	DPF2	ORPHA:1465
HP:0000496	Abnormality of eye movement	5977	DPF2	OMIM:618027
HP:0000496	Abnormality of eye movement	6601	SMARCC2	ORPHA:1465
HP:0000496	Abnormality of eye movement	6602	SMARCD1	ORPHA:1465
HP:0000496	Abnormality of eye movement	57492	ARID1B	ORPHA:1465
HP:0000496	Abnormality of eye movement	57492	ARID1B	OMIM:135900
HP:0000496	Abnormality of eye movement	196528	ARID2	ORPHA:1465
HP:0000496	Abnormality of eye movement	6664	SOX11	ORPHA:1465
HP:0000496	Abnormality of eye movement	9378	NRXN1	OMIM:614325
HP:0000496	Abnormality of eye movement	259232	NALCN	OMIM:615419
HP:0000496	Abnormality of eye movement	259232	NALCN	OMIM:616266
HP:0000496	Abnormality of eye movement	259232	NALCN	ORPHA:2053
HP:0000496	Abnormality of eye movement	259232	NALCN	ORPHA:371364
HP:0000496	Abnormality of eye movement	79583	TMEM231	ORPHA:2318
HP:0000496	Abnormality of eye movement	51524	TMEM138	ORPHA:2318
HP:0000496	Abnormality of eye movement	23090	ZNF423	ORPHA:2318
HP:0000496	Abnormality of eye movement	80184	CEP290	ORPHA:2318
HP:0000496	Abnormality of eye movement	51259	TMEM216	ORPHA:2318
HP:0000496	Abnormality of eye movement	57545	CC2D2A	ORPHA:2318
HP:0000496	Abnormality of eye movement	57545	CC2D2A	ORPHA:1454
HP:0000496	Abnormality of eye movement	57545	CC2D2A	OMIM:619111
HP:0000496	Abnormality of eye movement	1000	CDH2	OMIM:618929
HP:0000496	Abnormality of eye movement	10804	GJB6	OMIM:129500
HP:0000496	Abnormality of eye movement	545	ATR	OMIM:210600
HP:0000496	Abnormality of eye movement	91147	TMEM67	ORPHA:1454
HP:0000496	Abnormality of eye movement	91147	TMEM67	ORPHA:475
HP:0000496	Abnormality of eye movement	91147	TMEM67	OMIM:613550
HP:0000496	Abnormality of eye movement	149461	CLDN19	OMIM:248190
HP:0000496	Abnormality of eye movement	57531	HACE1	OMIM:616756
HP:0000496	Abnormality of eye movement	2313	FLI1	ORPHA:2308
HP:0000496	Abnormality of eye movement	9361	LONP1	ORPHA:1458
HP:0000496	Abnormality of eye movement	4758	NEU1	ORPHA:93400
HP:0000496	Abnormality of eye movement	4758	NEU1	ORPHA:93399
HP:0000496	Abnormality of eye movement	23476	BRD4	ORPHA:199
HP:0000496	Abnormality of eye movement	9126	SMC3	ORPHA:199
HP:0000496	Abnormality of eye movement	8243	SMC1A	ORPHA:199
HP:0000496	Abnormality of eye movement	55869	HDAC8	ORPHA:199
HP:0000496	Abnormality of eye movement	5885	RAD21	ORPHA:199
HP:0000496	Abnormality of eye movement	6197	RPS6KA3	ORPHA:192
HP:0000496	Abnormality of eye movement	10664	CTCF	ORPHA:363611
HP:0000496	Abnormality of eye movement	10664	CTCF	OMIM:615502
HP:0000496	Abnormality of eye movement	157680	VPS13B	ORPHA:193
HP:0000496	Abnormality of eye movement	9150	CTDP1	ORPHA:48431
HP:0000496	Abnormality of eye movement	81689	ISCA1	OMIM:617613
HP:0000496	Abnormality of eye movement	1103	CHAT	OMIM:254210
HP:0000496	Abnormality of eye movement	1861	TOR1A	OMIM:618947
HP:0000496	Abnormality of eye movement	998	CDC42	ORPHA:487796
HP:0000496	Abnormality of eye movement	8936	WASF1	OMIM:618707
HP:0000496	Abnormality of eye movement	23545	ATP6V0A2	OMIM:219200
HP:0000496	Abnormality of eye movement	23545	ATP6V0A2	ORPHA:357074
HP:0000496	Abnormality of eye movement	23556	PIGN	ORPHA:280633
HP:0000496	Abnormality of eye movement	55617	TASP1	OMIM:618950
HP:0000496	Abnormality of eye movement	122553	TRAPPC6B	OMIM:617862
HP:0000496	Abnormality of eye movement	92335	STRADA	OMIM:611087
HP:0000496	Abnormality of eye movement	57688	ZSWIM6	OMIM:617865
HP:0000496	Abnormality of eye movement	1806	DPYD	ORPHA:1675
HP:0000496	Abnormality of eye movement	2893	GRIA4	OMIM:617864
HP:0000496	Abnormality of eye movement	219285	SAMD9L	OMIM:619806
HP:0000496	Abnormality of eye movement	5456	POU3F4	ORPHA:1435
HP:0000496	Abnormality of eye movement	55691	FRMD4A	ORPHA:466688
HP:0000496	Abnormality of eye movement	55691	FRMD4A	OMIM:616819
HP:0000496	Abnormality of eye movement	6389	SDHA	ORPHA:255241
HP:0000496	Abnormality of eye movement	80704	SLC19A3	ORPHA:255241
HP:0000496	Abnormality of eye movement	91942	NDUFAF2	ORPHA:255241
HP:0000496	Abnormality of eye movement	91942	NDUFAF2	ORPHA:2609
HP:0000496	Abnormality of eye movement	6834	SURF1	ORPHA:255241
HP:0000496	Abnormality of eye movement	4723	NDUFV1	ORPHA:255241
HP:0000496	Abnormality of eye movement	4723	NDUFV1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4723	NDUFV1	OMIM:618225
HP:0000496	Abnormality of eye movement	55572	FOXRED1	ORPHA:255241
HP:0000496	Abnormality of eye movement	55572	FOXRED1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4729	NDUFV2	ORPHA:255241
HP:0000496	Abnormality of eye movement	4729	NDUFV2	ORPHA:2609
HP:0000496	Abnormality of eye movement	55967	NDUFA12	ORPHA:255241
HP:0000496	Abnormality of eye movement	51204	TACO1	ORPHA:255241
HP:0000496	Abnormality of eye movement	4720	NDUFS2	ORPHA:255241
HP:0000496	Abnormality of eye movement	4720	NDUFS2	ORPHA:2609
HP:0000496	Abnormality of eye movement	4724	NDUFS4	ORPHA:255241
HP:0000496	Abnormality of eye movement	4724	NDUFS4	OMIM:252010
HP:0000496	Abnormality of eye movement	4724	NDUFS4	ORPHA:2609
HP:0000496	Abnormality of eye movement	4728	NDUFS8	ORPHA:255241
HP:0000496	Abnormality of eye movement	4728	NDUFS8	ORPHA:2609
HP:0000496	Abnormality of eye movement	137682	NDUFAF6	ORPHA:255241
HP:0000496	Abnormality of eye movement	4722	NDUFS3	ORPHA:255241
HP:0000496	Abnormality of eye movement	4722	NDUFS3	ORPHA:2609
HP:0000496	Abnormality of eye movement	79133	NDUFAF5	ORPHA:255241
HP:0000496	Abnormality of eye movement	79133	NDUFAF5	ORPHA:2609
HP:0000496	Abnormality of eye movement	5160	PDHA1	ORPHA:255241
HP:0000496	Abnormality of eye movement	100131801	PET100	ORPHA:255241
HP:0000496	Abnormality of eye movement	1355	COX15	ORPHA:255241
HP:0000496	Abnormality of eye movement	1892	ECHS1	ORPHA:255241
HP:0000496	Abnormality of eye movement	51079	NDUFA13	ORPHA:255241
HP:0000496	Abnormality of eye movement	374291	NDUFS7	ORPHA:255241
HP:0000496	Abnormality of eye movement	374291	NDUFS7	ORPHA:2609
HP:0000496	Abnormality of eye movement	4705	NDUFA10	ORPHA:255241
HP:0000496	Abnormality of eye movement	51601	LIPT1	ORPHA:255241
HP:0000496	Abnormality of eye movement	4719	NDUFS1	ORPHA:255241
HP:0000496	Abnormality of eye movement	4719	NDUFS1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4719	NDUFS1	OMIM:618226
HP:0000496	Abnormality of eye movement	4695	NDUFA2	ORPHA:255241
HP:0000496	Abnormality of eye movement	4697	NDUFA4	ORPHA:255241
HP:0000496	Abnormality of eye movement	4704	NDUFA9	ORPHA:255241
HP:0000496	Abnormality of eye movement	1123	CHN1	OMIM:604356
HP:0000496	Abnormality of eye movement	1123	CHN1	ORPHA:233
HP:0000496	Abnormality of eye movement	54888	NSUN2	OMIM:611091
HP:0000496	Abnormality of eye movement	54888	NSUN2	ORPHA:235
HP:0000496	Abnormality of eye movement	6651	SON	ORPHA:500150
HP:0000496	Abnormality of eye movement	6651	SON	OMIM:617140
HP:0000496	Abnormality of eye movement	55733	HHAT	ORPHA:1422
HP:0000496	Abnormality of eye movement	387	RHOA	OMIM:618727
HP:0000496	Abnormality of eye movement	8777	MPDZ	OMIM:615219
HP:0000496	Abnormality of eye movement	85378	TUBGCP6	ORPHA:2518
HP:0000496	Abnormality of eye movement	27229	TUBGCP4	ORPHA:2518
HP:0000496	Abnormality of eye movement	10733	PLK4	ORPHA:2518
HP:0000496	Abnormality of eye movement	23389	MED13L	OMIM:616789
HP:0000496	Abnormality of eye movement	1788	DNMT3A	OMIM:618724
HP:0000496	Abnormality of eye movement	4621	MYH3	ORPHA:2990
HP:0000496	Abnormality of eye movement	4621	MYH3	OMIM:193700
HP:0000496	Abnormality of eye movement	4621	MYH3	ORPHA:2053
HP:0000496	Abnormality of eye movement	1146	CHRNG	ORPHA:2990
HP:0000496	Abnormality of eye movement	9939	RBM8A	OMIM:274000
HP:0000496	Abnormality of eye movement	1302	COL11A2	ORPHA:1427
HP:0000496	Abnormality of eye movement	3778	KCNMA1	OMIM:618729
HP:0000496	Abnormality of eye movement	9451	EIF2AK3	ORPHA:1667
HP:0000496	Abnormality of eye movement	8139	GAN	OMIM:256850
HP:0000496	Abnormality of eye movement	87178	PNPT1	OMIM:608703
HP:0000496	Abnormality of eye movement	87178	PNPT1	ORPHA:101111
HP:0000496	Abnormality of eye movement	11141	IL1RAPL1	OMIM:300143
HP:0000496	Abnormality of eye movement	1968	EIF2S3	OMIM:300148
HP:0000496	Abnormality of eye movement	57647	DHX37	OMIM:618731
HP:0000496	Abnormality of eye movement	5087	PBX1	OMIM:617641
HP:0000496	Abnormality of eye movement	7545	ZIC1	OMIM:618736
HP:0000496	Abnormality of eye movement	7545	ZIC1	OMIM:616602
HP:0000496	Abnormality of eye movement	4281	MID1	ORPHA:2745
HP:0000496	Abnormality of eye movement	8398	PLA2G6	OMIM:256600
HP:0000496	Abnormality of eye movement	8398	PLA2G6	ORPHA:35069
HP:0000496	Abnormality of eye movement	529	ATP6V1E1	OMIM:617402
HP:0000496	Abnormality of eye movement	529	ATP6V1E1	ORPHA:357074
HP:0000496	Abnormality of eye movement	170302	ARX	ORPHA:2508
HP:0000496	Abnormality of eye movement	170302	ARX	ORPHA:1934
HP:0000496	Abnormality of eye movement	170302	ARX	OMIM:300004
HP:0000496	Abnormality of eye movement	1001	CDH3	ORPHA:1897
HP:0000496	Abnormality of eye movement	1409	CRYAA	OMIM:604219
HP:0000496	Abnormality of eye movement	7528	YY1	ORPHA:506358
HP:0000496	Abnormality of eye movement	7528	YY1	OMIM:617557
HP:0000496	Abnormality of eye movement	8036	SHOC2	OMIM:607721
HP:0000496	Abnormality of eye movement	25915	NDUFAF3	ORPHA:2609
HP:0000496	Abnormality of eye movement	51103	NDUFAF1	ORPHA:2609
HP:0000496	Abnormality of eye movement	51300	TIMMDC1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4716	NDUFB10	ORPHA:2609
HP:0000496	Abnormality of eye movement	284184	NDUFAF8	ORPHA:2609
HP:0000496	Abnormality of eye movement	55863	TMEM126B	ORPHA:2609
HP:0000496	Abnormality of eye movement	4535	MT-ND1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4537	MT-ND3	ORPHA:2609
HP:0000496	Abnormality of eye movement	4694	NDUFA1	ORPHA:2609
HP:0000496	Abnormality of eye movement	4726	NDUFS6	ORPHA:2609
HP:0000496	Abnormality of eye movement	126328	NDUFA11	ORPHA:2609
HP:0000496	Abnormality of eye movement	4709	NDUFB3	ORPHA:2609
HP:0000496	Abnormality of eye movement	80224	NUBPL	ORPHA:2609
HP:0000496	Abnormality of eye movement	80224	NUBPL	OMIM:618242
HP:0000496	Abnormality of eye movement	29078	NDUFAF4	ORPHA:2609
HP:0000496	Abnormality of eye movement	4700	NDUFA6	ORPHA:2609
HP:0000496	Abnormality of eye movement	4536	MT-ND2	ORPHA:2609
HP:0000496	Abnormality of eye movement	4715	NDUFB9	ORPHA:2609
HP:0000496	Abnormality of eye movement	8367	H4C5	OMIM:619950
HP:0000496	Abnormality of eye movement	8294	H4C9	OMIM:619951
HP:0000496	Abnormality of eye movement	2132	EXT2	OMIM:616682
HP:0000496	Abnormality of eye movement	2132	EXT2	ORPHA:52022
HP:0000496	Abnormality of eye movement	23446	SLC44A1	OMIM:618868
HP:0000496	Abnormality of eye movement	10054	UBA2	OMIM:619959
HP:0000496	Abnormality of eye movement	60684	TRAPPC11	OMIM:615356
HP:0000496	Abnormality of eye movement	60684	TRAPPC11	ORPHA:369847
HP:0000496	Abnormality of eye movement	5361	PLXNA1	OMIM:619955
HP:0000496	Abnormality of eye movement	22800	RRAS2	OMIM:618624
HP:0000496	Abnormality of eye movement	22800	RRAS2	ORPHA:648
HP:0000496	Abnormality of eye movement	3008	H1-4	OMIM:617537
HP:0000496	Abnormality of eye movement	3703	STT3A	OMIM:619714
HP:0000496	Abnormality of eye movement	84942	WDR73	OMIM:251300
HP:0000496	Abnormality of eye movement	1736	DKC1	OMIM:305000
HP:0000496	Abnormality of eye movement	84570	COL25A1	ORPHA:91411
HP:0000496	Abnormality of eye movement	79776	ZFHX4	ORPHA:91411
HP:0000496	Abnormality of eye movement	51761	ATP8A2	ORPHA:1766
HP:0000496	Abnormality of eye movement	2067	ERCC1	ORPHA:90322
HP:0000496	Abnormality of eye movement	116931	MED12L	OMIM:618872
HP:0000496	Abnormality of eye movement	3020	H3-3A	OMIM:619720
HP:0000496	Abnormality of eye movement	79639	TMEM53	OMIM:619727
HP:0000496	Abnormality of eye movement	10730	YME1L1	OMIM:617302
HP:0000496	Abnormality of eye movement	57156	TMEM63C	OMIM:619966
HP:0000496	Abnormality of eye movement	23384	SPECC1L	ORPHA:1519
HP:0000496	Abnormality of eye movement	6660	SOX5	ORPHA:313892
HP:0000496	Abnormality of eye movement	6660	SOX5	OMIM:616803
HP:0000496	Abnormality of eye movement	28514	DLL1	ORPHA:280200
HP:0000496	Abnormality of eye movement	2253	FGF8	ORPHA:280200
HP:0000496	Abnormality of eye movement	6496	SIX3	ORPHA:280200
HP:0000496	Abnormality of eye movement	7050	TGIF1	ORPHA:280200
HP:0000496	Abnormality of eye movement	4838	NODAL	ORPHA:280200
HP:0000496	Abnormality of eye movement	6469	SHH	ORPHA:280200
HP:0000496	Abnormality of eye movement	7546	ZIC2	ORPHA:280200
HP:0000496	Abnormality of eye movement	2619	GAS1	ORPHA:280200
HP:0000496	Abnormality of eye movement	84976	DISP1	ORPHA:280200
HP:0000496	Abnormality of eye movement	2736	GLI2	ORPHA:280200
HP:0000496	Abnormality of eye movement	8928	FOXH1	ORPHA:280200
HP:0000496	Abnormality of eye movement	50937	CDON	ORPHA:280200
HP:0000496	Abnormality of eye movement	55870	ASH1L	OMIM:617796
HP:0000496	Abnormality of eye movement	816	CAMK2B	OMIM:617799
HP:0000496	Abnormality of eye movement	815	CAMK2A	OMIM:617798
HP:0000496	Abnormality of eye movement	64359	NXN	ORPHA:1507
HP:0000496	Abnormality of eye movement	4920	ROR2	ORPHA:1507
HP:0000496	Abnormality of eye movement	2626	GATA4	ORPHA:251071
HP:0000496	Abnormality of eye movement	5566	PRKACA	ORPHA:289
HP:0000496	Abnormality of eye movement	5567	PRKACB	ORPHA:289
HP:0000496	Abnormality of eye movement	2735	GLI1	ORPHA:289
HP:0000496	Abnormality of eye movement	2121	EVC	ORPHA:289
HP:0000496	Abnormality of eye movement	51626	DYNC2LI1	ORPHA:289
HP:0000496	Abnormality of eye movement	132884	EVC2	ORPHA:289
HP:0000496	Abnormality of eye movement	54872	PIGG	ORPHA:280
HP:0000496	Abnormality of eye movement	7469	NELFA	ORPHA:280
HP:0000496	Abnormality of eye movement	283987	HID1	OMIM:619983
HP:0000496	Abnormality of eye movement	1656	DDX6	OMIM:618653
HP:0000496	Abnormality of eye movement	5442	POLRMT	OMIM:619743
HP:0000496	Abnormality of eye movement	80208	SPG11	ORPHA:2822
HP:0000496	Abnormality of eye movement	93627	TBCK	ORPHA:488632
HP:0000496	Abnormality of eye movement	26057	ANKRD17	OMIM:619504
HP:0000496	Abnormality of eye movement	9935	MAFB	ORPHA:233
HP:0000496	Abnormality of eye movement	79600	TCTN1	ORPHA:475
HP:0000496	Abnormality of eye movement	65250	CPLANE1	ORPHA:475
HP:0000496	Abnormality of eye movement	200894	ARL13B	ORPHA:475
HP:0000496	Abnormality of eye movement	9731	CEP104	ORPHA:475
HP:0000496	Abnormality of eye movement	219844	HYLS1	ORPHA:475
HP:0000496	Abnormality of eye movement	23247	KATNIP	ORPHA:475
HP:0000496	Abnormality of eye movement	219854	TMEM218	ORPHA:475
HP:0000496	Abnormality of eye movement	9786	KIAA0586	ORPHA:475
HP:0000496	Abnormality of eye movement	79867	TCTN2	ORPHA:475
HP:0000496	Abnormality of eye movement	80776	B9D2	ORPHA:475
HP:0000496	Abnormality of eye movement	10464	PIBF1	ORPHA:475
HP:0000496	Abnormality of eye movement	80210	ARMC9	ORPHA:475
HP:0000496	Abnormality of eye movement	23116	TOGARAM1	ORPHA:475
HP:0000496	Abnormality of eye movement	25776	CBY1	ORPHA:475
HP:0000496	Abnormality of eye movement	27077	B9D1	ORPHA:475
HP:0000496	Abnormality of eye movement	403	ARL3	ORPHA:475
HP:0000496	Abnormality of eye movement	3981	LIG4	ORPHA:235
HP:0000496	Abnormality of eye movement	253738	EBF3	OMIM:617330
HP:0000496	Abnormality of eye movement	56006	SMG9	OMIM:619995
HP:0000496	Abnormality of eye movement	1182	CLCN3	OMIM:619512
HP:0000496	Abnormality of eye movement	29081	METTL5	OMIM:618665
HP:0000496	Abnormality of eye movement	8879	SGPL1	OMIM:617575
HP:0000496	Abnormality of eye movement	51604	PIGT	OMIM:615398
HP:0000496	Abnormality of eye movement	51604	PIGT	ORPHA:369837
HP:0000496	Abnormality of eye movement	84504	NKX6-2	ORPHA:527497
HP:0000496	Abnormality of eye movement	7862	BRPF1	OMIM:617333
HP:0000496	Abnormality of eye movement	55699	IARS2	OMIM:616007
HP:0000496	Abnormality of eye movement	4191	MDH2	OMIM:617339
HP:0000496	Abnormality of eye movement	8364	H4C3	OMIM:619758
HP:0000496	Abnormality of eye movement	8517	IKBKG	ORPHA:464
HP:0000496	Abnormality of eye movement	8517	IKBKG	OMIM:308300
HP:0000496	Abnormality of eye movement	56052	ALG1	ORPHA:79327
HP:0000496	Abnormality of eye movement	26137	ZBTB20	OMIM:259050
HP:0000496	Abnormality of eye movement	11234	HPS5	OMIM:614074
HP:0000496	Abnormality of eye movement	79803	HPS6	OMIM:614075
HP:0000496	Abnormality of eye movement	53335	BCL11A	OMIM:617101
HP:0000496	Abnormality of eye movement	4849	CNOT3	OMIM:618672
HP:0000496	Abnormality of eye movement	59336	PRDM13	OMIM:619761
HP:0000496	Abnormality of eye movement	6942	TCF20	OMIM:618430
HP:0000496	Abnormality of eye movement	9158	FIBP	OMIM:617107
HP:0000496	Abnormality of eye movement	9158	FIBP	ORPHA:500095
HP:0000496	Abnormality of eye movement	773	CACNA1A	OMIM:617106
HP:0000496	Abnormality of eye movement	22	ABCB7	ORPHA:2802
HP:0000496	Abnormality of eye movement	2542	SLC37A4	OMIM:619525
HP:0000496	Abnormality of eye movement	9338	TCEAL1	OMIM:301094
HP:0000496	Abnormality of eye movement	6925	TCF4	OMIM:610954
HP:0000496	Abnormality of eye movement	6925	TCF4	ORPHA:2896
HP:0000496	Abnormality of eye movement	93589	CACNA2D4	ORPHA:215
HP:0000496	Abnormality of eye movement	2916	GRM6	ORPHA:215
HP:0000496	Abnormality of eye movement	5158	PDE6B	ORPHA:215
HP:0000496	Abnormality of eye movement	6011	GRK1	ORPHA:215
HP:0000496	Abnormality of eye movement	6011	GRK1	ORPHA:75382
HP:0000496	Abnormality of eye movement	778	CACNA1F	ORPHA:215
HP:0000496	Abnormality of eye movement	6010	RHO	ORPHA:215
HP:0000496	Abnormality of eye movement	9187	SLC24A1	ORPHA:215
HP:0000496	Abnormality of eye movement	6295	SAG	ORPHA:215
HP:0000496	Abnormality of eye movement	6295	SAG	ORPHA:75382
HP:0000496	Abnormality of eye movement	2784	GNB3	ORPHA:215
HP:0000496	Abnormality of eye movement	2779	GNAT1	ORPHA:215
HP:0000496	Abnormality of eye movement	60506	NYX	ORPHA:215
HP:0000496	Abnormality of eye movement	6785	ELOVL4	ORPHA:1955
HP:0000496	Abnormality of eye movement	23314	SATB2	ORPHA:576283
HP:0000496	Abnormality of eye movement	23314	SATB2	ORPHA:251019
HP:0000496	Abnormality of eye movement	5373	PMM2	ORPHA:79318
HP:0000496	Abnormality of eye movement	7030	TFE3	OMIM:301066
HP:0000496	Abnormality of eye movement	23162	MAPK8IP3	OMIM:618443
HP:0000496	Abnormality of eye movement	10463	SLC30A9	OMIM:617595
HP:0000496	Abnormality of eye movement	8218	CLTCL1	ORPHA:453510
HP:0000496	Abnormality of eye movement	2678	GGT1	OMIM:231950
HP:0000496	Abnormality of eye movement	2006	ELN	ORPHA:90348
HP:0000496	Abnormality of eye movement	2006	ELN	ORPHA:904
HP:0000496	Abnormality of eye movement	2006	ELN	OMIM:194050
HP:0000496	Abnormality of eye movement	10516	FBLN5	ORPHA:90348
HP:0000496	Abnormality of eye movement	5832	ALDH18A1	ORPHA:90348
HP:0000496	Abnormality of eye movement	5832	ALDH18A1	OMIM:219150
HP:0000496	Abnormality of eye movement	5832	ALDH18A1	OMIM:616603
HP:0000496	Abnormality of eye movement	23219	FBXO28	OMIM:619777
HP:0000496	Abnormality of eye movement	3930	LBR	OMIM:169400
HP:0000496	Abnormality of eye movement	1107	CHD3	OMIM:618205
HP:0000496	Abnormality of eye movement	404672	GTF2H5	ORPHA:33364
HP:0000496	Abnormality of eye movement	833	CARS1	ORPHA:33364
HP:0000496	Abnormality of eye movement	7737	RNF113A	ORPHA:33364
HP:0000496	Abnormality of eye movement	136647	MPLKIP	ORPHA:33364
HP:0000496	Abnormality of eye movement	6897	TARS1	ORPHA:33364
HP:0000496	Abnormality of eye movement	2071	ERCC3	ORPHA:33364
HP:0000496	Abnormality of eye movement	2071	ERCC3	ORPHA:910
HP:0000496	Abnormality of eye movement	2961	GTF2E2	ORPHA:33364
HP:0000496	Abnormality of eye movement	29929	ALG6	ORPHA:79320
HP:0000496	Abnormality of eye movement	29929	ALG6	OMIM:603147
HP:0000496	Abnormality of eye movement	79087	ALG12	ORPHA:79324
HP:0000496	Abnormality of eye movement	1723	DHODH	ORPHA:246
HP:0000496	Abnormality of eye movement	10195	ALG3	OMIM:601110
HP:0000496	Abnormality of eye movement	3897	L1CAM	OMIM:304100
HP:0000496	Abnormality of eye movement	3897	L1CAM	ORPHA:2182
HP:0000496	Abnormality of eye movement	3897	L1CAM	OMIM:303350
HP:0000496	Abnormality of eye movement	9896	FIG4	ORPHA:208441
HP:0000496	Abnormality of eye movement	3845	KRAS	OMIM:600268
HP:0000496	Abnormality of eye movement	3845	KRAS	ORPHA:648
HP:0000496	Abnormality of eye movement	3845	KRAS	ORPHA:3339
HP:0000496	Abnormality of eye movement	3845	KRAS	ORPHA:1340
HP:0000496	Abnormality of eye movement	3845	KRAS	OMIM:609942
HP:0000496	Abnormality of eye movement	8621	CDK13	OMIM:617360
HP:0000496	Abnormality of eye movement	51013	EXOSC1	OMIM:619304
HP:0000496	Abnormality of eye movement	6857	SYT1	OMIM:618218
HP:0000496	Abnormality of eye movement	6857	SYT1	ORPHA:522077
HP:0000496	Abnormality of eye movement	6792	CDKL5	ORPHA:1934
HP:0000496	Abnormality of eye movement	3736	KCNA1	ORPHA:1934
HP:0000496	Abnormality of eye movement	9091	PIGQ	ORPHA:1934
HP:0000496	Abnormality of eye movement	2775	GNAO1	ORPHA:1934
HP:0000496	Abnormality of eye movement	81603	TRIM8	ORPHA:1934
HP:0000496	Abnormality of eye movement	79751	SLC25A22	ORPHA:1934
HP:0000496	Abnormality of eye movement	150094	SIK1	ORPHA:1934
HP:0000496	Abnormality of eye movement	23312	DMXL2	ORPHA:1934
HP:0000496	Abnormality of eye movement	2917	GRM7	ORPHA:1934
HP:0000496	Abnormality of eye movement	11284	PNKP	ORPHA:1934
HP:0000496	Abnormality of eye movement	6326	SCN2A	ORPHA:1934
HP:0000496	Abnormality of eye movement	51227	PIGP	ORPHA:1934
HP:0000496	Abnormality of eye movement	6324	SCN1B	ORPHA:1934
HP:0000496	Abnormality of eye movement	4761	NEUROD2	ORPHA:1934
HP:0000496	Abnormality of eye movement	10466	COG5	ORPHA:263487
HP:0000496	Abnormality of eye movement	30000	TNPO2	OMIM:619556
HP:0000496	Abnormality of eye movement	6477	SIAH1	OMIM:619314
HP:0000496	Abnormality of eye movement	54892	NCAPG2	OMIM:618460
HP:0000496	Abnormality of eye movement	55628	ZNF407	OMIM:619557
HP:0000496	Abnormality of eye movement	26275	HIBCH	ORPHA:88639
HP:0000496	Abnormality of eye movement	26275	HIBCH	OMIM:250620
HP:0000496	Abnormality of eye movement	29998	BICRA	OMIM:619325
HP:0000496	Abnormality of eye movement	4081	MAB21L1	OMIM:618479
HP:0000496	Abnormality of eye movement	6833	ABCC8	OMIM:240800
HP:0000496	Abnormality of eye movement	5010	CLDN11	OMIM:619328
HP:0000496	Abnormality of eye movement	2710	GK	OMIM:307030
HP:0000496	Abnormality of eye movement	9179	AP4M1	OMIM:612936
HP:0000496	Abnormality of eye movement	9179	AP4M1	ORPHA:280763
HP:0000496	Abnormality of eye movement	387119	CEP85L	ORPHA:572013
HP:0000496	Abnormality of eye movement	79944	L2HGDH	OMIM:236792
HP:0000496	Abnormality of eye movement	1741	DLG3	OMIM:300850
HP:0000496	Abnormality of eye movement	57551	TAOK1	OMIM:619575
HP:0000496	Abnormality of eye movement	56915	EXOSC5	OMIM:619576
HP:0000496	Abnormality of eye movement	2077	ERF	ORPHA:207
HP:0000496	Abnormality of eye movement	5351	PLOD1	ORPHA:1900
HP:0000496	Abnormality of eye movement	55750	AGK	OMIM:212350
HP:0000496	Abnormality of eye movement	55750	AGK	ORPHA:1369
HP:0000496	Abnormality of eye movement	3265	HRAS	ORPHA:3071
HP:0000496	Abnormality of eye movement	3265	HRAS	OMIM:218040
HP:0000496	Abnormality of eye movement	2898	GRIK2	OMIM:619580
HP:0000496	Abnormality of eye movement	191	AHCY	ORPHA:88618
HP:0000496	Abnormality of eye movement	9496	TBX4	ORPHA:261279
HP:0000496	Abnormality of eye movement	6712	SPTBN2	OMIM:600224
HP:0000496	Abnormality of eye movement	6712	SPTBN2	ORPHA:352403
HP:0000496	Abnormality of eye movement	774	CACNA1B	OMIM:618497
HP:0000496	Abnormality of eye movement	10524	KAT5	OMIM:619103
HP:0000496	Abnormality of eye movement	372	ARCN1	OMIM:617164
HP:0000496	Abnormality of eye movement	54681	P4HTM	OMIM:618493
HP:0000496	Abnormality of eye movement	26040	SETBP1	OMIM:616078
HP:0000496	Abnormality of eye movement	2475	MTOR	ORPHA:457485
HP:0000496	Abnormality of eye movement	2475	MTOR	OMIM:616638
HP:0000496	Abnormality of eye movement	5573	PRKAR1A	OMIM:101800
HP:0000496	Abnormality of eye movement	80185	TTI2	ORPHA:391307
HP:0000496	Abnormality of eye movement	80185	TTI2	OMIM:615541
HP:0000496	Abnormality of eye movement	668	FOXL2	OMIM:110100
HP:0000496	Abnormality of eye movement	668	FOXL2	ORPHA:572333
HP:0000496	Abnormality of eye movement	10847	SRCAP	OMIM:619595
HP:0000496	Abnormality of eye movement	10847	SRCAP	ORPHA:2044
HP:0000496	Abnormality of eye movement	10847	SRCAP	OMIM:136140
HP:0000496	Abnormality of eye movement	5702	PSMC3	OMIM:619354
HP:0000496	Abnormality of eye movement	79005	SCNM1	OMIM:620107
HP:0000496	Abnormality of eye movement	4983	OPHN1	ORPHA:137831
HP:0000496	Abnormality of eye movement	4983	OPHN1	OMIM:300486
HP:0000496	Abnormality of eye movement	4810	NHS	ORPHA:627
HP:0000496	Abnormality of eye movement	526	ATP6V1B2	ORPHA:79500
HP:0000496	Abnormality of eye movement	57465	TBC1D24	ORPHA:79500
HP:0000496	Abnormality of eye movement	51317	PHF21A	ORPHA:52022
HP:0000496	Abnormality of eye movement	84172	POLR1B	ORPHA:861
HP:0000496	Abnormality of eye movement	9533	POLR1C	ORPHA:861
HP:0000496	Abnormality of eye movement	51082	POLR1D	ORPHA:861
HP:0000496	Abnormality of eye movement	374354	NHLRC2	OMIM:618278
HP:0000496	Abnormality of eye movement	128240	NAXE	OMIM:617186
HP:0000496	Abnormality of eye movement	5130	PCYT1A	ORPHA:85167
HP:0000496	Abnormality of eye movement	6472	SHMT2	OMIM:619121
HP:0000496	Abnormality of eye movement	23287	AGTPBP1	OMIM:618276
HP:0000496	Abnormality of eye movement	23287	AGTPBP1	ORPHA:2254
HP:0000496	Abnormality of eye movement	6299	SALL1	ORPHA:857
HP:0000496	Abnormality of eye movement	51339	DACT1	ORPHA:857
HP:0000496	Abnormality of eye movement	22995	CEP152	OMIM:613823
HP:0000496	Abnormality of eye movement	5077	PAX3	ORPHA:894
HP:0000496	Abnormality of eye movement	6904	TBCD	OMIM:617193
HP:0000496	Abnormality of eye movement	55835	CENPJ	OMIM:608393
HP:0000496	Abnormality of eye movement	4668	NAGA	OMIM:609241
HP:0000496	Abnormality of eye movement	4668	NAGA	ORPHA:79281
HP:0000496	Abnormality of eye movement	4668	NAGA	ORPHA:79279
HP:0000496	Abnormality of eye movement	4157	MC1R	OMIM:203200
HP:0000496	Abnormality of eye movement	3295	HSD17B4	OMIM:261515
HP:0000496	Abnormality of eye movement	867	CBL	ORPHA:648
HP:0000496	Abnormality of eye movement	8216	LZTR1	ORPHA:648
HP:0000496	Abnormality of eye movement	6016	RIT1	ORPHA:648
HP:0000496	Abnormality of eye movement	6237	RRAS	ORPHA:648
HP:0000496	Abnormality of eye movement	5894	RAF1	ORPHA:648
HP:0000496	Abnormality of eye movement	22808	MRAS	ORPHA:648
HP:0000496	Abnormality of eye movement	200734	SPRED2	ORPHA:648
HP:0000496	Abnormality of eye movement	4893	NRAS	ORPHA:648
HP:0000496	Abnormality of eye movement	6654	SOS1	ORPHA:648
HP:0000496	Abnormality of eye movement	6655	SOS2	ORPHA:648
HP:0000496	Abnormality of eye movement	5781	PTPN11	ORPHA:648
HP:0000496	Abnormality of eye movement	5781	PTPN11	OMIM:151100
HP:0000496	Abnormality of eye movement	5922	RASA2	ORPHA:648
HP:0000496	Abnormality of eye movement	84233	TMEM126A	OMIM:612989
HP:0000496	Abnormality of eye movement	11011	TLK2	OMIM:618050
HP:0000496	Abnormality of eye movement	27161	AGO2	OMIM:619149
HP:0000496	Abnormality of eye movement	8665	EIF3F	OMIM:618295
HP:0000496	Abnormality of eye movement	3480	IGF1R	OMIM:270450
HP:0000496	Abnormality of eye movement	10128	LRPPRC	OMIM:220111
HP:0000496	Abnormality of eye movement	10134	BCAP31	OMIM:300475
HP:0000496	Abnormality of eye movement	10134	BCAP31	ORPHA:369939
HP:0000496	Abnormality of eye movement	158	ADSL	OMIM:103050
HP:0000496	Abnormality of eye movement	1545	CYP1B1	ORPHA:708
HP:0000496	Abnormality of eye movement	2301	FOXE3	ORPHA:708
HP:0000496	Abnormality of eye movement	2296	FOXC1	ORPHA:708
HP:0000496	Abnormality of eye movement	10274	STAG1	ORPHA:502434
HP:0000496	Abnormality of eye movement	10992	SF3B2	OMIM:164210
HP:0000496	Abnormality of eye movement	501	ALDH7A1	OMIM:266100
HP:0000496	Abnormality of eye movement	374654	KIF7	OMIM:200990
HP:0000496	Abnormality of eye movement	2911	GRM1	OMIM:614831
HP:0000496	Abnormality of eye movement	25782	RAB3GAP2	OMIM:212720
HP:0000496	Abnormality of eye movement	3899	AFF3	OMIM:619297
HP:0000496	Abnormality of eye movement	1757	SARDH	ORPHA:3129
HP:0000496	Abnormality of eye movement	7045	TGFBI	OMIM:608470
HP:0000496	Abnormality of eye movement	7045	TGFBI	OMIM:121900
HP:0000496	Abnormality of eye movement	10015	PDCD6IP	OMIM:620047
HP:0000496	Abnormality of eye movement	8546	AP3B1	OMIM:608233
HP:0000496	Abnormality of eye movement	4591	TRIM37	OMIM:253250
HP:0000496	Abnormality of eye movement	2615	LRRC32	OMIM:619074
HP:0000496	Abnormality of eye movement	1727	CYB5R3	OMIM:250800
HP:0000496	Abnormality of eye movement	1857	DVL3	ORPHA:3107
HP:0000496	Abnormality of eye movement	7474	WNT5A	ORPHA:3107
HP:0000496	Abnormality of eye movement	1855	DVL1	ORPHA:3107
HP:0000496	Abnormality of eye movement	2535	FZD2	ORPHA:3107
HP:0000496	Abnormality of eye movement	6804	STX1A	ORPHA:904
HP:0000496	Abnormality of eye movement	7461	CLIP2	ORPHA:904
HP:0000496	Abnormality of eye movement	84277	DNAJC30	ORPHA:904
HP:0000496	Abnormality of eye movement	8468	FKBP6	ORPHA:904
HP:0000496	Abnormality of eye movement	5982	RFC2	ORPHA:904
HP:0000496	Abnormality of eye movement	2969	GTF2I	ORPHA:904
HP:0000496	Abnormality of eye movement	3984	LIMK1	ORPHA:904
HP:0000496	Abnormality of eye movement	9569	GTF2IRD1	ORPHA:904
HP:0000496	Abnormality of eye movement	155382	VPS37D	ORPHA:904
HP:0000496	Abnormality of eye movement	155368	METTL27	ORPHA:904
HP:0000496	Abnormality of eye movement	114049	BUD23	ORPHA:904
HP:0000496	Abnormality of eye movement	7458	EIF4H	ORPHA:904
HP:0000496	Abnormality of eye movement	84163	GTF2IRD2	ORPHA:904
HP:0000496	Abnormality of eye movement	9275	BCL7B	ORPHA:904
HP:0000496	Abnormality of eye movement	26608	TBL2	ORPHA:904
HP:0000496	Abnormality of eye movement	653361	NCF1	ORPHA:904
HP:0000496	Abnormality of eye movement	135886	TMEM270	ORPHA:904
HP:0000496	Abnormality of eye movement	51085	MLXIPL	ORPHA:904
HP:0000496	Abnormality of eye movement	51085	MLXIPL	OMIM:194050
HP:0000496	Abnormality of eye movement	9031	BAZ1B	ORPHA:904
HP:0000496	Abnormality of eye movement	11340	EXOSC8	ORPHA:2254
HP:0000496	Abnormality of eye movement	5393	EXOSC9	ORPHA:2254
HP:0000496	Abnormality of eye movement	51010	EXOSC3	ORPHA:2254
HP:0000496	Abnormality of eye movement	51010	EXOSC3	OMIM:614678
HP:0000496	Abnormality of eye movement	7443	VRK1	ORPHA:2254
HP:0000496	Abnormality of eye movement	91137	SLC25A46	ORPHA:2254
HP:0000496	Abnormality of eye movement	81031	SLC2A10	ORPHA:3342
HP:0000496	Abnormality of eye movement	4976	OPA1	OMIM:165500
HP:0000496	Abnormality of eye movement	4976	OPA1	OMIM:125250
HP:0000496	Abnormality of eye movement	83475	DOHH	OMIM:620066
HP:0000496	Abnormality of eye movement	6329	SCN4A	ORPHA:99734
HP:0000496	Abnormality of eye movement	10236	HNRNPR	OMIM:620073
HP:0000496	Abnormality of eye movement	78989	COLEC11	OMIM:265050
HP:0000496	Abnormality of eye movement	4089	SMAD4	OMIM:139210
HP:0000496	Abnormality of eye movement	284217	LAMA1	OMIM:615960
HP:0000496	Abnormality of eye movement	284217	LAMA1	ORPHA:370022
HP:0000496	Abnormality of eye movement	51244	CCDC174	OMIM:616816
HP:0000496	Abnormality of eye movement	23065	EMC1	ORPHA:480898
HP:0000496	Abnormality of eye movement	3187	HNRNPH1	OMIM:620083
HP:0000496	Abnormality of eye movement	9928	KIF14	OMIM:617914
HP:0000496	Abnormality of eye movement	1634	DCN	OMIM:610048
HP:0000496	Abnormality of eye movement	84978	FRMD5	OMIM:620094
HP:0000496	Abnormality of eye movement	5631	PRPS1	OMIM:300661
HP:0000496	Abnormality of eye movement	51067	YARS2	OMIM:613561
HP:0000496	Abnormality of eye movement	2702	GJA5	OMIM:612474
HP:0000496	Abnormality of eye movement	2703	GJA8	OMIM:612474
HP:0000496	Abnormality of eye movement	3329	HSPD1	OMIM:612233
HP:0000496	Abnormality of eye movement	51053	GMNN	OMIM:616835
HP:0000496	Abnormality of eye movement	27241	BBS9	OMIM:615986
HP:0000496	Abnormality of eye movement	7507	XPA	ORPHA:910
HP:0000496	Abnormality of eye movement	7508	XPC	ORPHA:910
HP:0000496	Abnormality of eye movement	1643	DDB2	ORPHA:910
HP:0000496	Abnormality of eye movement	2073	ERCC5	ORPHA:910
HP:0000496	Abnormality of eye movement	51621	KLF13	OMIM:612001
HP:0000496	Abnormality of eye movement	2335	FN1	ORPHA:93315
HP:0000496	Abnormality of eye movement	1280	COL2A1	ORPHA:93315
HP:0000496	Abnormality of eye movement	29926	GMPPA	OMIM:615510
HP:0000496	Abnormality of eye movement	22845	DOLK	ORPHA:91131
HP:0000496	Abnormality of eye movement	291	SLC25A4	ORPHA:1369
HP:0000496	Abnormality of eye movement	26007	TKFC	ORPHA:1369
HP:0000496	Abnormality of eye movement	10157	AASS	ORPHA:2203
HP:0000496	Abnormality of eye movement	55784	MCTP2	ORPHA:1596
HP:0000496	Abnormality of eye movement	51218	GLRX5	OMIM:616859
HP:0000496	Abnormality of eye movement	5053	PAH	ORPHA:2209
HP:0000496	Abnormality of eye movement	26224	FBXL3	OMIM:606220
HP:0000496	Abnormality of eye movement	4297	KMT2A	OMIM:605130
HP:0000496	Abnormality of eye movement	11253	MAN1B1	OMIM:614202
HP:0000496	Abnormality of eye movement	10352	WARS2	OMIM:617710
HP:0000496	Abnormality of eye movement	7874	USP7	OMIM:616863
HP:0000496	Abnormality of eye movement	7874	USP7	ORPHA:500055
HP:0000496	Abnormality of eye movement	27315	PGAP2	OMIM:614207
HP:0000496	Abnormality of eye movement	54974	THG1L	OMIM:618800
HP:0000496	Abnormality of eye movement	5604	MAP2K1	ORPHA:1340
HP:0000496	Abnormality of eye movement	26146	TRAF3IP1	OMIM:616629
HP:0000496	Abnormality of eye movement	1737	DLAT	ORPHA:79244
HP:0000496	Abnormality of eye movement	3209	HOXA13	ORPHA:2438
HP:0000496	Abnormality of eye movement	2248	FGF3	ORPHA:90024
HP:0000496	Abnormality of eye movement	23395	LARS2	OMIM:615300
HP:0000496	Abnormality of eye movement	80781	COL18A1	ORPHA:1571
HP:0000496	Abnormality of eye movement	5062	PAK2	ORPHA:1571
HP:0000496	Abnormality of eye movement	55644	OSGEP	OMIM:617729
HP:0000496	Abnormality of eye movement	3835	KIF22	ORPHA:93360
HP:0000496	Abnormality of eye movement	6938	TCF12	OMIM:615314
HP:0000496	Abnormality of eye movement	4659	PPP1R12A	OMIM:618820
HP:0000496	Abnormality of eye movement	285175	UNC80	ORPHA:371364
HP:0000496	Abnormality of eye movement	8405	SPOP	OMIM:618829
HP:0000496	Abnormality of eye movement	8905	AP1S2	ORPHA:1568
HP:0000496	Abnormality of eye movement	23630	KCNE5	ORPHA:86818
HP:0000496	Abnormality of eye movement	2182	ACSL4	ORPHA:86818
HP:0000496	Abnormality of eye movement	7204	TRIO	ORPHA:476126
HP:0000496	Abnormality of eye movement	10717	AP4B1	ORPHA:280763
HP:0000496	Abnormality of eye movement	11154	AP4S1	ORPHA:280763
HP:0000496	Abnormality of eye movement	23431	AP4E1	ORPHA:280763
HP:0000496	Abnormality of eye movement	9320	TRIP12	OMIM:617752
HP:0000496	Abnormality of eye movement	523	ATP6V1A	ORPHA:357074
HP:0000496	Abnormality of eye movement	738	VPS51	OMIM:618606
HP:0000496	Abnormality of eye movement	5718	PSMD12	OMIM:617516
HP:0000496	Abnormality of eye movement	5430	POLR2A	OMIM:618603
HP:0000496	Abnormality of eye movement	23592	LEMD3	ORPHA:1306
HP:0000496	Abnormality of eye movement	6913	TBX15	ORPHA:93333
HP:0000496	Abnormality of eye movement	9130	FAM50A	OMIM:300261
HP:0000496	Abnormality of eye movement	23102	TBC1D2B	ORPHA:397973
HP:0000496	Abnormality of eye movement	23404	EXOSC2	OMIM:617763
HP:0000496	Abnormality of eye movement	8803	SUCLA2	OMIM:612073
HP:0000496	Abnormality of eye movement	22978	NT5C2	OMIM:613162
HP:0000496	Abnormality of eye movement	9181	ARHGEF2	OMIM:617523
HP:0000496	Abnormality of eye movement	3064	HTT	ORPHA:399
HP:0000496	Abnormality of eye movement	3064	HTT	OMIM:143100
HP:0000496	Abnormality of eye movement	6515	SLC2A3	ORPHA:399
HP:0000496	Abnormality of eye movement	3763	KCNJ6	ORPHA:435628
HP:0000496	Abnormality of eye movement	6247	RS1	ORPHA:792
HP:0000496	Abnormality of eye movement	1281	COL3A1	OMIM:618343
HP:0000496	Abnormality of eye movement	5648	MASP1	OMIM:257920
HP:0000496	Abnormality of eye movement	2643	GCH1	OMIM:233910
HP:0000496	Abnormality of eye movement	114327	EFHC1	ORPHA:307
HP:0000496	Abnormality of eye movement	114327	EFHC1	ORPHA:1941
HP:0000496	Abnormality of eye movement	1181	CLCN2	ORPHA:307
HP:0000496	Abnormality of eye movement	2554	GABRA1	ORPHA:307
HP:0000496	Abnormality of eye movement	3786	KCNQ3	ORPHA:307
HP:0000496	Abnormality of eye movement	22858	CILK1	ORPHA:307
HP:0000496	Abnormality of eye movement	8629	JRK	ORPHA:307
HP:0000496	Abnormality of eye movement	6571	SLC18A2	ORPHA:352649
HP:0000496	Abnormality of eye movement	5521	PPP2R2B	OMIM:604326
HP:0000496	Abnormality of eye movement	8050	PDHX	OMIM:245349
HP:0000496	Abnormality of eye movement	51506	UFC1	OMIM:618076
HP:0000496	Abnormality of eye movement	9342	SNAP29	ORPHA:66631
HP:0000496	Abnormality of eye movement	5660	PSAP	ORPHA:139406
HP:0000496	Abnormality of eye movement	9326	ZNHIT3	ORPHA:2836
HP:0000496	Abnormality of eye movement	11212	PLPBP	ORPHA:3006
HP:0000496	Abnormality of eye movement	11342	RNF13	ORPHA:544503
HP:0000496	Abnormality of eye movement	7915	ALDH5A1	OMIM:271980
HP:0000496	Abnormality of eye movement	10577	NPC2	OMIM:607625
HP:0000496	Abnormality of eye movement	4864	NPC1	OMIM:257220
HP:0000496	Abnormality of eye movement	5610	EIF2AK2	OMIM:619687
HP:0000496	Abnormality of eye movement	8309	ACOX2	OMIM:617308
HP:0000496	Abnormality of eye movement	1639	DCTN1	OMIM:168605
HP:0000496	Abnormality of eye movement	440193	CCDC88C	ORPHA:423275
HP:0000496	Abnormality of eye movement	5173	PDYN	ORPHA:101108
HP:0000496	Abnormality of eye movement	5173	PDYN	OMIM:610245
HP:0000496	Abnormality of eye movement	11261	CHP1	OMIM:618438
HP:0000496	Abnormality of eye movement	7143	TNR	OMIM:619653
HP:0000496	Abnormality of eye movement	4137	MAPT	ORPHA:240071
HP:0000496	Abnormality of eye movement	4137	MAPT	ORPHA:240103
HP:0000496	Abnormality of eye movement	84274	COQ5	OMIM:619028
HP:0000496	Abnormality of eye movement	25793	FBXO7	ORPHA:171695
HP:0000496	Abnormality of eye movement	25793	FBXO7	OMIM:260300
HP:0000496	Abnormality of eye movement	6622	SNCA	ORPHA:171695
HP:0000496	Abnormality of eye movement	23230	VPS13A	ORPHA:2388
HP:0000496	Abnormality of eye movement	8449	DHX16	OMIM:618733
HP:0000496	Abnormality of eye movement	6342	SCP2	OMIM:613724
HP:0000496	Abnormality of eye movement	353116	RILPL1	OMIM:619790
HP:0000496	Abnormality of eye movement	2483	FRG1	OMIM:158900
HP:0000496	Abnormality of eye movement	35	ACADS	OMIM:201470
HP:0000496	Abnormality of eye movement	4534	MTM1	OMIM:310400
HP:0000496	Abnormality of eye movement	64419	MTMR14	ORPHA:169189
HP:0000496	Abnormality of eye movement	64419	MTMR14	OMIM:160150
HP:0000496	Abnormality of eye movement	4618	MYF6	ORPHA:169189
HP:0000496	Abnormality of eye movement	1785	DNM2	ORPHA:169189
HP:0000496	Abnormality of eye movement	1785	DNM2	OMIM:160150
HP:0000496	Abnormality of eye movement	4556	MT-TE	ORPHA:225
HP:0000496	Abnormality of eye movement	56947	MFF	OMIM:617086
HP:0000496	Abnormality of eye movement	56947	MFF	ORPHA:485421
HP:0000496	Abnormality of eye movement	101060691	NUTM2B-AS1	OMIM:618637
HP:0000496	Abnormality of eye movement	113278	SLC52A3	OMIM:211530
HP:0000496	Abnormality of eye movement	6786	STIM1	OMIM:160565
HP:0000496	Abnormality of eye movement	79796	ALG9	OMIM:608776
HP:0000496	Abnormality of eye movement	79796	ALG9	ORPHA:79328
HP:0000496	Abnormality of eye movement	1303	COL12A1	ORPHA:75840
HP:0000496	Abnormality of eye movement	1291	COL6A1	ORPHA:75840
HP:0000496	Abnormality of eye movement	1292	COL6A2	ORPHA:75840
HP:0000496	Abnormality of eye movement	1293	COL6A3	ORPHA:75840
HP:0000496	Abnormality of eye movement	5575	PRKAR1B	OMIM:619680
HP:0000496	Abnormality of eye movement	388015	RTL1	ORPHA:254528
HP:0000496	Abnormality of eye movement	8788	DLK1	ORPHA:254528
HP:0000496	Abnormality of eye movement	55384	MEG3	ORPHA:254528
HP:0000496	Abnormality of eye movement	55777	MBD5	OMIM:156200
HP:0000496	Abnormality of eye movement	84992	PIGY	ORPHA:247262
HP:0000496	Abnormality of eye movement	84720	PIGO	ORPHA:247262
HP:0000496	Abnormality of eye movement	93210	PGAP3	ORPHA:247262
HP:0000496	Abnormality of eye movement	284098	PIGW	ORPHA:247262
HP:0000496	Abnormality of eye movement	55650	PIGV	ORPHA:247262
HP:0000496	Abnormality of eye movement	9630	GNA14	ORPHA:1063
HP:0000496	Abnormality of eye movement	5422	POLA1	OMIM:301030
HP:0000496	Abnormality of eye movement	10484	SEC23A	OMIM:607812
HP:0000496	Abnormality of eye movement	84342	COG8	OMIM:611182
HP:0000496	Abnormality of eye movement	5144	PDE4D	ORPHA:439822
HP:0000496	Abnormality of eye movement	2743	GLRB	OMIM:614619
HP:0000496	Abnormality of eye movement	8363	H4C11	OMIM:619759
HP:0000496	Abnormality of eye movement	3211	HOXB1	OMIM:614744
HP:0000496	Abnormality of eye movement	1528	CYB5A	ORPHA:621
HP:0000496	Abnormality of eye movement	471	ATIC	OMIM:608688
HP:0000496	Abnormality of eye movement	5295	PIK3R1	OMIM:269880
HP:0000496	Abnormality of eye movement	54802	TRIT1	OMIM:617873
HP:0000496	Abnormality of eye movement	23154	NCDN	OMIM:619373
HP:0000496	Abnormality of eye movement	1284	COL4A2	OMIM:614483
HP:0000496	Abnormality of eye movement	9469	CHST3	OMIM:245600
HP:0000496	Abnormality of eye movement	26229	B3GAT3	OMIM:245600
HP:0000496	Abnormality of eye movement	84148	KAT8	OMIM:618974
HP:0000496	Abnormality of eye movement	4654	MYOD1	OMIM:618975
HP:0000496	Abnormality of eye movement	6935	ZEB1	ORPHA:98973
HP:0000496	Abnormality of eye movement	30813	VSX1	ORPHA:98973
HP:0000496	Abnormality of eye movement	58495	OVOL2	ORPHA:98973
HP:0000496	Abnormality of eye movement	79977	GRHL2	ORPHA:98973
HP:0000496	Abnormality of eye movement	1296	COL8A2	ORPHA:98973
HP:0000496	Abnormality of eye movement	57462	MYORG	OMIM:618317
HP:0000496	Abnormality of eye movement	9829	DNAJC6	OMIM:615528
HP:0000496	Abnormality of eye movement	6535	SLC6A8	OMIM:300352
HP:0000496	Abnormality of eye movement	104	ADARB1	OMIM:618862
HP:0000496	Abnormality of eye movement	79912	PYROXD1	OMIM:617258
HP:0000496	Abnormality of eye movement	55325	UFSP2	OMIM:620028
HP:0000496	Abnormality of eye movement	36	ACADSB	OMIM:610006
HP:0000496	Abnormality of eye movement	51651	PTRH2	ORPHA:456312
HP:0000496	Abnormality of eye movement	51651	PTRH2	OMIM:616263
HP:0000496	Abnormality of eye movement	3188	HNRNPH2	OMIM:300986
HP:0000496	Abnormality of eye movement	2783	GNB2	OMIM:619503
HP:0000496	Abnormality of eye movement	23268	DNMBP	OMIM:618415
HP:0000496	Abnormality of eye movement	149371	EXOC8	OMIM:619076
HP:0000496	Abnormality of eye movement	1282	COL4A1	OMIM:175780
HP:0000496	Abnormality of eye movement	6134	RPL10	ORPHA:459070
HP:0000496	Abnormality of eye movement	283209	PGM2L1	OMIM:620191
HP:0000496	Abnormality of eye movement	4617	MYF5	OMIM:618155
HP:0000496	Abnormality of eye movement	2255	FGF10	ORPHA:2363
HP:0000496	Abnormality of eye movement	546	ATRX	OMIM:309580
HP:0000496	Abnormality of eye movement	4088	SMAD3	OMIM:613795
HP:0000496	Abnormality of eye movement	7048	TGFBR2	OMIM:610168
HP:0000496	Abnormality of eye movement	3030	HADHA	ORPHA:5
HP:0000496	Abnormality of eye movement	7046	TGFBR1	OMIM:609192
HP:0000496	Abnormality of eye movement	4558	MT-TF	ORPHA:550
HP:0000496	Abnormality of eye movement	4572	MT-TQ	ORPHA:550
HP:0000496	Abnormality of eye movement	4512	MT-CO1	ORPHA:550
HP:0000496	Abnormality of eye movement	4513	MT-CO2	ORPHA:550
HP:0000496	Abnormality of eye movement	4514	MT-CO3	ORPHA:550
HP:0000496	Abnormality of eye movement	4575	MT-TS2	ORPHA:550
HP:0000496	Abnormality of eye movement	4564	MT-TH	ORPHA:550
HP:0000496	Abnormality of eye movement	4576	MT-TT	ORPHA:254857
HP:0000496	Abnormality of eye movement	708	C1QBP	OMIM:617713
HP:0000496	Abnormality of eye movement	57176	VARS2	OMIM:615917
HP:0000496	Abnormality of eye movement	92667	MGME1	ORPHA:352447
HP:0000496	Abnormality of eye movement	92667	MGME1	OMIM:615084
HP:0000496	Abnormality of eye movement	4568	MT-TL2	ORPHA:663
HP:0000496	Abnormality of eye movement	4509	MT-ATP8	ORPHA:480
HP:0000496	Abnormality of eye movement	7156	TOP3A	OMIM:618098
HP:0000496	Abnormality of eye movement	274	BIN1	ORPHA:169186
HP:0000496	Abnormality of eye movement	10290	SPEG	ORPHA:169186
HP:0000496	Abnormality of eye movement	6261	RYR1	ORPHA:169186
HP:0000496	Abnormality of eye movement	7273	TTN	ORPHA:169186
HP:0000496	Abnormality of eye movement	11232	POLG2	ORPHA:254892
HP:0000496	Abnormality of eye movement	50484	RRM2B	ORPHA:254892
HP:0000496	Abnormality of eye movement	50484	RRM2B	ORPHA:298
HP:0000496	Abnormality of eye movement	1134	CHRNA1	OMIM:601462
HP:0000496	Abnormality of eye movement	1134	CHRNA1	OMIM:608930
HP:0000496	Abnormality of eye movement	1134	CHRNA1	ORPHA:98913
HP:0000496	Abnormality of eye movement	4574	MT-TS1	OMIM:220110
HP:0000496	Abnormality of eye movement	4570	MT-TN	OMIM:220110
HP:0000496	Abnormality of eye movement	1763	DNA2	OMIM:615156
HP:0000496	Abnormality of eye movement	1890	TYMP	OMIM:603041
HP:0000496	Abnormality of eye movement	1890	TYMP	ORPHA:298
HP:0000496	Abnormality of eye movement	8659	ALDH4A1	ORPHA:79101
HP:0000496	Abnormality of eye movement	100134444	KCNJ18	ORPHA:79102
HP:0000496	Abnormality of eye movement	779	CACNA1S	ORPHA:79102
HP:0000496	Abnormality of eye movement	8292	COLQ	ORPHA:98915
HP:0000496	Abnormality of eye movement	8292	COLQ	OMIM:603034
HP:0000496	Abnormality of eye movement	1140	CHRNB1	ORPHA:98913
HP:0000496	Abnormality of eye movement	1144	CHRND	ORPHA:98913
HP:0000496	Abnormality of eye movement	4593	MUSK	ORPHA:98913
HP:0000496	Abnormality of eye movement	5913	RAPSN	ORPHA:98913
HP:0000496	Abnormality of eye movement	221264	AK9	ORPHA:98913
HP:0000496	Abnormality of eye movement	285489	DOK7	ORPHA:98913
HP:0000496	Abnormality of eye movement	285489	DOK7	OMIM:254300
HP:0000496	Abnormality of eye movement	3980	LIG3	ORPHA:298
HP:0000496	Abnormality of eye movement	5339	PLEC	ORPHA:257
HP:0000496	Abnormality of eye movement	7084	TK2	ORPHA:254875
HP:0000496	Abnormality of eye movement	29967	LRP12	OMIM:164310
HP:0000496	Abnormality of eye movement	23479	ISCU	OMIM:255125
HP:0000496	Abnormality of eye movement	246243	RNASEH1	OMIM:616479
HP:0000496	Abnormality of eye movement	131377	KLHL40	OMIM:615348
HP:0000496	Abnormality of eye movement	10755	GIPC1	ORPHA:98897
HP:0000496	Abnormality of eye movement	8106	PABPN1	ORPHA:270
HP:0000496	Abnormality of eye movement	56203	LMOD3	OMIM:616165
HP:0000496	Abnormality of eye movement	56203	LMOD3	ORPHA:171430
HP:0000496	Abnormality of eye movement	58	ACTA1	ORPHA:171433
HP:0000496	Abnormality of eye movement	58	ACTA1	ORPHA:171430
HP:0000496	Abnormality of eye movement	58	ACTA1	ORPHA:2020
HP:0000496	Abnormality of eye movement	4703	NEB	ORPHA:171433
HP:0000496	Abnormality of eye movement	4703	NEB	ORPHA:171430
HP:0000496	Abnormality of eye movement	10324	KLHL41	ORPHA:171433
HP:0000496	Abnormality of eye movement	10324	KLHL41	ORPHA:171430
HP:0000496	Abnormality of eye movement	7170	TPM3	ORPHA:171433
HP:0000496	Abnormality of eye movement	7170	TPM3	ORPHA:2020
HP:0000496	Abnormality of eye movement	7170	TPM3	OMIM:255310
HP:0000496	Abnormality of eye movement	7259	TSPYL1	ORPHA:168593
HP:0000496	Abnormality of eye movement	4519	MT-CYB	OMIM:540000
HP:0000496	Abnormality of eye movement	4511	MT-TC	OMIM:540000
HP:0000496	Abnormality of eye movement	4547	MTTP	ORPHA:14
HP:0000496	Abnormality of eye movement	4620	MYH2	OMIM:605637
HP:0000496	Abnormality of eye movement	10367	MICU1	ORPHA:401768
HP:0000496	Abnormality of eye movement	57190	SELENON	ORPHA:2020
HP:0000496	Abnormality of eye movement	4633	MYL2	ORPHA:2020
HP:0000496	Abnormality of eye movement	3679	ITGA7	ORPHA:2020
HP:0000496	Abnormality of eye movement	7169	TPM2	ORPHA:2020
HP:0000496	Abnormality of eye movement	9200	HACD1	ORPHA:2020
HP:0000496	Abnormality of eye movement	51776	MAP3K20	ORPHA:2020
HP:0000496	Abnormality of eye movement	55739	NAXD	OMIM:618321
HP:0000496	Abnormality of eye movement	84833	ATP5MK	OMIM:618683
HP:0000496	Abnormality of eye movement	124454	EARS2	OMIM:614924
HP:0000496	Abnormality of eye movement	3908	LAMA2	OMIM:607855
HP:0000496	Abnormality of eye movement	7415	VCP	ORPHA:275872
HP:0000496	Abnormality of eye movement	23435	TARDBP	ORPHA:275872
HP:0000496	Abnormality of eye movement	29110	TBK1	ORPHA:275872
HP:0000496	Abnormality of eye movement	400916	CHCHD10	ORPHA:275872
HP:0000496	Abnormality of eye movement	203228	C9orf72	OMIM:105550
HP:0000496	Abnormality of eye movement	3119	HLA-DQB1	OMIM:123400
HP:0000496	Abnormality of eye movement	389827	MYMK	ORPHA:1358
HP:0000496	Abnormality of eye movement	101929726	MYMX	ORPHA:1358
HP:0000496	Abnormality of eye movement	26191	PTPN22	ORPHA:397
HP:0000496	Abnormality of eye movement	3106	HLA-B	ORPHA:397
HP:0000496	Abnormality of eye movement	3123	HLA-DRB1	ORPHA:397
HP:0000496	Abnormality of eye movement	8974	P4HA2	ORPHA:397
HP:0000496	Abnormality of eye movement	4524	MTHFR	ORPHA:395
HP:0000496	Abnormality of eye movement	26235	FBXL4	OMIM:615471
HP:0000496	Abnormality of eye movement	54507	ADAMTSL4	ORPHA:1885
HP:0000496	Abnormality of eye movement	7360	UGP2	OMIM:618744
HP:0000496	Abnormality of eye movement	1786	DNMT1	ORPHA:314404
HP:0000496	Abnormality of eye movement	6687	SPG7	ORPHA:99013
HP:0000496	Abnormality of eye movement	6687	SPG7	OMIM:607259
HP:0000496	Abnormality of eye movement	4552	MTRR	OMIM:236270
HP:0000496	Abnormality of eye movement	4552	MTRR	ORPHA:2169
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:99015
HP:0000496	Abnormality of eye movement	5354	PLP1	OMIM:312080
HP:0000496	Abnormality of eye movement	5354	PLP1	OMIM:312920
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:280210
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:280224
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:280219
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:280234
HP:0000496	Abnormality of eye movement	5354	PLP1	ORPHA:280229
HP:0000496	Abnormality of eye movement	54714	CNGB3	OMIM:262300
HP:0000496	Abnormality of eye movement	83959	SLC4A11	ORPHA:293603
HP:0000496	Abnormality of eye movement	83959	SLC4A11	ORPHA:1490
HP:0000496	Abnormality of eye movement	10528	NOP56	OMIM:614153
HP:0000496	Abnormality of eye movement	26504	CNNM4	ORPHA:1873
HP:0000496	Abnormality of eye movement	26504	CNNM4	OMIM:217080
HP:0000496	Abnormality of eye movement	85015	USP45	OMIM:618513
HP:0000496	Abnormality of eye movement	85015	USP45	ORPHA:65
HP:0000496	Abnormality of eye movement	16	AARS1	OMIM:616339
HP:0000496	Abnormality of eye movement	16	AARS1	ORPHA:442835
HP:0000496	Abnormality of eye movement	79868	ALG13	ORPHA:324422
HP:0000496	Abnormality of eye movement	103	ADAR	OMIM:615010
HP:0000496	Abnormality of eye movement	103	ADAR	ORPHA:51
HP:0000496	Abnormality of eye movement	283652	SLC24A5	OMIM:113750
HP:0000496	Abnormality of eye movement	283652	SLC24A5	ORPHA:370097
HP:0000496	Abnormality of eye movement	64834	ELOVL1	OMIM:618527
HP:0000496	Abnormality of eye movement	4508	MT-ATP6	OMIM:551500
HP:0000496	Abnormality of eye movement	4508	MT-ATP6	ORPHA:255210
HP:0000496	Abnormality of eye movement	4508	MT-ATP6	ORPHA:644
HP:0000496	Abnormality of eye movement	1420	CRYGC	OMIM:604307
HP:0000496	Abnormality of eye movement	1420	CRYGC	ORPHA:1377
HP:0000496	Abnormality of eye movement	857	CAV1	OMIM:606721
HP:0000496	Abnormality of eye movement	5297	PI4KA	OMIM:619621
HP:0000496	Abnormality of eye movement	5297	PI4KA	ORPHA:98889
HP:0000496	Abnormality of eye movement	5297	PI4KA	OMIM:619708
HP:0000496	Abnormality of eye movement	26258	BLOC1S6	OMIM:614171
HP:0000496	Abnormality of eye movement	57231	SNX14	OMIM:616354
HP:0000496	Abnormality of eye movement	57231	SNX14	ORPHA:397709
HP:0000496	Abnormality of eye movement	5833	PCYT2	OMIM:618770
HP:0000496	Abnormality of eye movement	8550	MAPKAPK5	OMIM:619869
HP:0000496	Abnormality of eye movement	6103	RPGR	OMIM:304020
HP:0000496	Abnormality of eye movement	6103	RPGR	ORPHA:791
HP:0000496	Abnormality of eye movement	788	SLC25A20	ORPHA:159
HP:0000496	Abnormality of eye movement	167691	LCA5	OMIM:604537
HP:0000496	Abnormality of eye movement	167691	LCA5	ORPHA:364055
HP:0000496	Abnormality of eye movement	167691	LCA5	ORPHA:65
HP:0000496	Abnormality of eye movement	92482	BBIP1	ORPHA:110
HP:0000496	Abnormality of eye movement	11020	IFT27	ORPHA:110
HP:0000496	Abnormality of eye movement	49855	SCAPER	ORPHA:110
HP:0000496	Abnormality of eye movement	49855	SCAPER	ORPHA:791
HP:0000496	Abnormality of eye movement	51057	WDPCP	ORPHA:110
HP:0000496	Abnormality of eye movement	84984	CEP19	ORPHA:110
HP:0000496	Abnormality of eye movement	22954	TRIM32	ORPHA:110
HP:0000496	Abnormality of eye movement	79738	BBS10	ORPHA:110
HP:0000496	Abnormality of eye movement	123016	TTC8	ORPHA:110
HP:0000496	Abnormality of eye movement	123016	TTC8	ORPHA:791
HP:0000496	Abnormality of eye movement	26160	IFT172	ORPHA:110
HP:0000496	Abnormality of eye movement	26160	IFT172	ORPHA:791
HP:0000496	Abnormality of eye movement	583	BBS2	ORPHA:110
HP:0000496	Abnormality of eye movement	583	BBS2	ORPHA:791
HP:0000496	Abnormality of eye movement	585	BBS4	ORPHA:110
HP:0000496	Abnormality of eye movement	8195	MKKS	ORPHA:110
HP:0000496	Abnormality of eye movement	54585	LZTFL1	ORPHA:110
HP:0000496	Abnormality of eye movement	55212	BBS7	ORPHA:110
HP:0000496	Abnormality of eye movement	166379	BBS12	ORPHA:110
HP:0000496	Abnormality of eye movement	10806	SDCCAG8	ORPHA:110
HP:0000496	Abnormality of eye movement	157657	CFAP418	ORPHA:110
HP:0000496	Abnormality of eye movement	157657	CFAP418	ORPHA:791
HP:0000496	Abnormality of eye movement	129880	BBS5	ORPHA:110
HP:0000496	Abnormality of eye movement	80173	IFT74	ORPHA:110
HP:0000496	Abnormality of eye movement	5146	PDE6C	OMIM:613093
HP:0000496	Abnormality of eye movement	3982	LIM2	OMIM:615277
HP:0000496	Abnormality of eye movement	1822	ATN1	ORPHA:101
HP:0000496	Abnormality of eye movement	55210	ATAD3A	ORPHA:496790
HP:0000496	Abnormality of eye movement	55210	ATAD3A	OMIM:617183
HP:0000496	Abnormality of eye movement	1615	DARS1	OMIM:615281
HP:0000496	Abnormality of eye movement	122961	ISCA2	OMIM:616370
HP:0000496	Abnormality of eye movement	5621	PRNP	ORPHA:157941
HP:0000496	Abnormality of eye movement	5621	PRNP	ORPHA:282166
HP:0000496	Abnormality of eye movement	2232	FDXR	ORPHA:543470
HP:0000496	Abnormality of eye movement	2232	FDXR	OMIM:617717
HP:0000496	Abnormality of eye movement	56652	TWNK	OMIM:616138
HP:0000496	Abnormality of eye movement	56652	TWNK	OMIM:271245
HP:0000496	Abnormality of eye movement	56652	TWNK	OMIM:607459
HP:0000496	Abnormality of eye movement	56652	TWNK	ORPHA:70595
HP:0000496	Abnormality of eye movement	146227	BEAN1	ORPHA:217012
HP:0000496	Abnormality of eye movement	146227	BEAN1	OMIM:117210
HP:0000496	Abnormality of eye movement	9711	RUBCN	ORPHA:404499
HP:0000496	Abnormality of eye movement	9711	RUBCN	OMIM:615705
HP:0000496	Abnormality of eye movement	5917	RARS1	OMIM:616140
HP:0000496	Abnormality of eye movement	5917	RARS1	ORPHA:438114
HP:0000496	Abnormality of eye movement	2395	FXN	OMIM:229300
HP:0000496	Abnormality of eye movement	2395	FXN	ORPHA:95
HP:0000496	Abnormality of eye movement	57679	ALS2	OMIM:205100
HP:0000496	Abnormality of eye movement	57679	ALS2	ORPHA:300605
HP:0000496	Abnormality of eye movement	8565	YARS1	OMIM:619418
HP:0000496	Abnormality of eye movement	84131	CEP78	OMIM:617236
HP:0000496	Abnormality of eye movement	6533	SLC6A6	OMIM:145350
HP:0000496	Abnormality of eye movement	100151683	RNU4ATAC	ORPHA:1824
HP:0000496	Abnormality of eye movement	100151683	RNU4ATAC	OMIM:226960
HP:0000496	Abnormality of eye movement	84295	PHF6	ORPHA:127
HP:0000496	Abnormality of eye movement	84295	PHF6	OMIM:301900
HP:0000496	Abnormality of eye movement	5654	HTRA1	OMIM:600142
HP:0000496	Abnormality of eye movement	85300	ATCAY	OMIM:601238
HP:0000496	Abnormality of eye movement	85300	ATCAY	ORPHA:94122
HP:0000496	Abnormality of eye movement	9742	IFT140	OMIM:266920
HP:0000496	Abnormality of eye movement	9742	IFT140	ORPHA:791
HP:0000496	Abnormality of eye movement	9742	IFT140	ORPHA:65
HP:0000496	Abnormality of eye movement	3000	GUCY2D	OMIM:204000
HP:0000496	Abnormality of eye movement	3000	GUCY2D	ORPHA:65
HP:0000496	Abnormality of eye movement	3000	GUCY2D	OMIM:601777
HP:0000496	Abnormality of eye movement	2583	B4GALNT1	OMIM:609195
HP:0000496	Abnormality of eye movement	1642	DDB1	OMIM:619426
HP:0000496	Abnormality of eye movement	343035	RD3	OMIM:610612
HP:0000496	Abnormality of eye movement	343035	RD3	ORPHA:65
HP:0000496	Abnormality of eye movement	4001	LMNB1	ORPHA:99027
HP:0000496	Abnormality of eye movement	4001	LMNB1	OMIM:169500
HP:0000496	Abnormality of eye movement	51151	SLC45A2	ORPHA:79435
HP:0000496	Abnormality of eye movement	51151	SLC45A2	OMIM:606574
HP:0000496	Abnormality of eye movement	1203	CLN5	ORPHA:228360
HP:0000496	Abnormality of eye movement	1203	CLN5	OMIM:256731
HP:0000496	Abnormality of eye movement	64132	XYLT2	OMIM:605822
HP:0000496	Abnormality of eye movement	64132	XYLT2	ORPHA:85194
HP:0000496	Abnormality of eye movement	7287	TULP1	OMIM:600132
HP:0000496	Abnormality of eye movement	7287	TULP1	ORPHA:791
HP:0000496	Abnormality of eye movement	7287	TULP1	ORPHA:65
HP:0000496	Abnormality of eye movement	7287	TULP1	OMIM:613843
HP:0000496	Abnormality of eye movement	92840	REEP6	ORPHA:791
HP:0000496	Abnormality of eye movement	6094	ROM1	ORPHA:791
HP:0000496	Abnormality of eye movement	6017	RLBP1	ORPHA:791
HP:0000496	Abnormality of eye movement	7401	CLRN1	ORPHA:791
HP:0000496	Abnormality of eye movement	24	ABCA4	ORPHA:791
HP:0000496	Abnormality of eye movement	130557	ZNF513	ORPHA:791
HP:0000496	Abnormality of eye movement	92211	CDHR1	ORPHA:791
HP:0000496	Abnormality of eye movement	23568	ARL2BP	ORPHA:791
HP:0000496	Abnormality of eye movement	6121	RPE65	ORPHA:791
HP:0000496	Abnormality of eye movement	6121	RPE65	ORPHA:364055
HP:0000496	Abnormality of eye movement	6121	RPE65	ORPHA:65
HP:0000496	Abnormality of eye movement	6121	RPE65	OMIM:204100
HP:0000496	Abnormality of eye movement	6121	RPE65	OMIM:613794
HP:0000496	Abnormality of eye movement	6101	RP1	ORPHA:791
HP:0000496	Abnormality of eye movement	4751	NEK2	ORPHA:791
HP:0000496	Abnormality of eye movement	346007	EYS	ORPHA:791
HP:0000496	Abnormality of eye movement	8100	IFT88	ORPHA:791
HP:0000496	Abnormality of eye movement	23020	SNRNP200	ORPHA:791
HP:0000496	Abnormality of eye movement	762	CA4	ORPHA:791
HP:0000496	Abnormality of eye movement	138050	HGSNAT	ORPHA:791
HP:0000496	Abnormality of eye movement	196	AHR	ORPHA:791
HP:0000496	Abnormality of eye movement	3614	IMPDH1	ORPHA:791
HP:0000496	Abnormality of eye movement	3614	IMPDH1	ORPHA:65
HP:0000496	Abnormality of eye movement	3614	IMPDH1	OMIM:613837
HP:0000496	Abnormality of eye movement	1406	CRX	ORPHA:791
HP:0000496	Abnormality of eye movement	1406	CRX	ORPHA:65
HP:0000496	Abnormality of eye movement	1406	CRX	OMIM:613829
HP:0000496	Abnormality of eye movement	5148	PDE6G	ORPHA:791
HP:0000496	Abnormality of eye movement	26121	PRPF31	ORPHA:791
HP:0000496	Abnormality of eye movement	4117	MAK	ORPHA:791
HP:0000496	Abnormality of eye movement	25794	FSCN2	ORPHA:791
HP:0000496	Abnormality of eye movement	375298	CERKL	ORPHA:791
HP:0000496	Abnormality of eye movement	3420	IDH3B	ORPHA:791
HP:0000496	Abnormality of eye movement	57670	KIAA1549	ORPHA:791
HP:0000496	Abnormality of eye movement	7275	TUB	ORPHA:791
HP:0000496	Abnormality of eye movement	24148	PRPF6	ORPHA:791
HP:0000496	Abnormality of eye movement	10461	MERTK	ORPHA:791
HP:0000496	Abnormality of eye movement	57709	SLC7A14	ORPHA:791
HP:0000496	Abnormality of eye movement	768206	PRCD	ORPHA:791
HP:0000496	Abnormality of eye movement	7399	USH2A	ORPHA:791
HP:0000496	Abnormality of eye movement	7399	USH2A	ORPHA:231178
HP:0000496	Abnormality of eye movement	23370	ARHGEF18	ORPHA:791
HP:0000496	Abnormality of eye movement	5949	RBP3	ORPHA:791
HP:0000496	Abnormality of eye movement	6100	RP9	ORPHA:791
HP:0000496	Abnormality of eye movement	10002	NR2E3	ORPHA:791
HP:0000496	Abnormality of eye movement	9227	LRAT	ORPHA:791
HP:0000496	Abnormality of eye movement	9227	LRAT	ORPHA:364055
HP:0000496	Abnormality of eye movement	9227	LRAT	ORPHA:65
HP:0000496	Abnormality of eye movement	9227	LRAT	OMIM:613341
HP:0000496	Abnormality of eye movement	84140	FAM161A	ORPHA:791
HP:0000496	Abnormality of eye movement	55812	SPATA7	ORPHA:791
HP:0000496	Abnormality of eye movement	55812	SPATA7	ORPHA:364055
HP:0000496	Abnormality of eye movement	55812	SPATA7	ORPHA:65
HP:0000496	Abnormality of eye movement	55812	SPATA7	OMIM:604232
HP:0000496	Abnormality of eye movement	79797	ZNF408	ORPHA:791
HP:0000496	Abnormality of eye movement	5145	PDE6A	ORPHA:791
HP:0000496	Abnormality of eye movement	10210	TOPORS	ORPHA:791
HP:0000496	Abnormality of eye movement	10210	TOPORS	ORPHA:2754
HP:0000496	Abnormality of eye movement	8842	PROM1	ORPHA:791
HP:0000496	Abnormality of eye movement	8842	PROM1	OMIM:612095
HP:0000496	Abnormality of eye movement	9128	PRPF4	ORPHA:791
HP:0000496	Abnormality of eye movement	145226	RDH12	ORPHA:791
HP:0000496	Abnormality of eye movement	145226	RDH12	ORPHA:65
HP:0000496	Abnormality of eye movement	50939	IMPG2	ORPHA:791
HP:0000496	Abnormality of eye movement	8481	OFD1	ORPHA:791
HP:0000496	Abnormality of eye movement	8481	OFD1	ORPHA:2754
HP:0000496	Abnormality of eye movement	2979	GUCA1B	ORPHA:791
HP:0000496	Abnormality of eye movement	1259	CNGA1	ORPHA:791
HP:0000496	Abnormality of eye movement	1258	CNGB1	ORPHA:791
HP:0000496	Abnormality of eye movement	60509	AGBL5	ORPHA:791
HP:0000496	Abnormality of eye movement	5961	PRPH2	ORPHA:791
HP:0000496	Abnormality of eye movement	388939	PCARE	ORPHA:791
HP:0000496	Abnormality of eye movement	9785	DHX38	ORPHA:791
HP:0000496	Abnormality of eye movement	5995	RGR	ORPHA:791
HP:0000496	Abnormality of eye movement	9129	PRPF3	ORPHA:791
HP:0000496	Abnormality of eye movement	55975	KLHL7	ORPHA:791
HP:0000496	Abnormality of eye movement	3617	IMPG1	ORPHA:791
HP:0000496	Abnormality of eye movement	94137	RP1L1	ORPHA:791
HP:0000496	Abnormality of eye movement	6102	RP2	ORPHA:791
HP:0000496	Abnormality of eye movement	55857	KIZ	ORPHA:791
HP:0000496	Abnormality of eye movement	64218	SEMA4A	ORPHA:791
HP:0000496	Abnormality of eye movement	4901	NRL	ORPHA:791
HP:0000496	Abnormality of eye movement	10594	PRPF8	ORPHA:791
HP:0000496	Abnormality of eye movement	79947	DHDDS	ORPHA:791
HP:0000496	Abnormality of eye movement	79947	DHDDS	ORPHA:442835
HP:0000496	Abnormality of eye movement	8473	OGT	OMIM:300997
HP:0000496	Abnormality of eye movement	4311	MME	OMIM:617018
HP:0000496	Abnormality of eye movement	6809	STX3	OMIM:619446
HP:0000496	Abnormality of eye movement	427	ASAH1	ORPHA:333
HP:0000496	Abnormality of eye movement	92255	LMBRD2	OMIM:619694
HP:0000496	Abnormality of eye movement	4647	MYO7A	OMIM:276900
HP:0000496	Abnormality of eye movement	4647	MYO7A	ORPHA:231178
HP:0000496	Abnormality of eye movement	10083	USH1C	OMIM:276900
HP:0000496	Abnormality of eye movement	8260	NAA10	ORPHA:568
HP:0000496	Abnormality of eye movement	54880	BCOR	ORPHA:568
HP:0000496	Abnormality of eye movement	51102	MECR	OMIM:617282
HP:0000496	Abnormality of eye movement	51102	MECR	ORPHA:508093
HP:0000496	Abnormality of eye movement	6297	SALL2	OMIM:216820
HP:0000496	Abnormality of eye movement	4548	MTR	OMIM:250940
HP:0000496	Abnormality of eye movement	3028	HSD17B10	ORPHA:391428
HP:0000496	Abnormality of eye movement	3028	HSD17B10	OMIM:300438
HP:0000496	Abnormality of eye movement	50801	KCNK4	OMIM:618381
HP:0000496	Abnormality of eye movement	10526	IPO8	OMIM:619472
HP:0000496	Abnormality of eye movement	94005	PIGS	OMIM:618143
HP:0000496	Abnormality of eye movement	3257	HPS1	OMIM:203300
HP:0000496	Abnormality of eye movement	100147744	RNU7-1	OMIM:619487
HP:0000496	Abnormality of eye movement	100147744	RNU7-1	ORPHA:51
HP:0000496	Abnormality of eye movement	374879	ZNF699	OMIM:619488
HP:0000496	Abnormality of eye movement	2566	GABRG2	OMIM:618396
HP:0000496	Abnormality of eye movement	2566	GABRG2	ORPHA:442835
HP:0000496	Abnormality of eye movement	134353	LSM11	OMIM:619486
HP:0000496	Abnormality of eye movement	134353	LSM11	ORPHA:51
HP:0000496	Abnormality of eye movement	9373	PLAA	ORPHA:521426
HP:0000496	Abnormality of eye movement	9373	PLAA	OMIM:617527
HP:0000496	Abnormality of eye movement	9573	GDF3	OMIM:613703
HP:0000496	Abnormality of eye movement	392255	GDF6	OMIM:613703
HP:0000496	Abnormality of eye movement	392255	GDF6	ORPHA:65
HP:0000496	Abnormality of eye movement	10681	GNB5	ORPHA:542306
HP:0000496	Abnormality of eye movement	10681	GNB5	OMIM:617173
HP:0000496	Abnormality of eye movement	10681	GNB5	OMIM:617182
HP:0000496	Abnormality of eye movement	7284	TUFM	OMIM:610678
HP:0000496	Abnormality of eye movement	6663	SOX10	OMIM:609136
HP:0000496	Abnormality of eye movement	6663	SOX10	ORPHA:163746
HP:0000496	Abnormality of eye movement	6663	SOX10	ORPHA:478
HP:0000496	Abnormality of eye movement	6663	SOX10	OMIM:611584
HP:0000496	Abnormality of eye movement	26278	SACS	OMIM:270550
HP:0000496	Abnormality of eye movement	5264	PHYH	ORPHA:773
HP:0000496	Abnormality of eye movement	5264	PHYH	OMIM:266500
HP:0000496	Abnormality of eye movement	5191	PEX7	ORPHA:773
HP:0000496	Abnormality of eye movement	5191	PEX7	OMIM:266500
HP:0000496	Abnormality of eye movement	63899	NSUN3	OMIM:619012
HP:0000496	Abnormality of eye movement	81615	TMEM163	OMIM:620243
HP:0000496	Abnormality of eye movement	64802	NMNAT1	OMIM:619260
HP:0000496	Abnormality of eye movement	64802	NMNAT1	ORPHA:65
HP:0000496	Abnormality of eye movement	64802	NMNAT1	OMIM:608553
HP:0000496	Abnormality of eye movement	114034	TOE1	ORPHA:284339
HP:0000496	Abnormality of eye movement	114034	TOE1	OMIM:614969
HP:0000496	Abnormality of eye movement	9562	MINPP1	ORPHA:284339
HP:0000496	Abnormality of eye movement	9562	MINPP1	OMIM:619527
HP:0000496	Abnormality of eye movement	84842	HPDL	OMIM:619026
HP:0000496	Abnormality of eye movement	284361	EMC10	OMIM:619264
HP:0000496	Abnormality of eye movement	1414	CRYBB1	OMIM:611544
HP:0000496	Abnormality of eye movement	1414	CRYBB1	ORPHA:1377
HP:0000496	Abnormality of eye movement	55129	ANO10	OMIM:613728
HP:0000496	Abnormality of eye movement	50964	SOST	OMIM:269500
HP:0000496	Abnormality of eye movement	10312	TCIRG1	OMIM:259700
HP:0000496	Abnormality of eye movement	10312	TCIRG1	ORPHA:667
HP:0000496	Abnormality of eye movement	10312	TCIRG1	ORPHA:1782
HP:0000496	Abnormality of eye movement	781	CACNA2D1	OMIM:620149
HP:0000496	Abnormality of eye movement	781	CACNA2D1	ORPHA:442835
HP:0000496	Abnormality of eye movement	2780	GNAT2	OMIM:613856
HP:0000496	Abnormality of eye movement	79581	SLC52A2	OMIM:614707
HP:0000496	Abnormality of eye movement	1638	DCT	OMIM:619165
HP:0000496	Abnormality of eye movement	80055	PGAP1	OMIM:615802
HP:0000496	Abnormality of eye movement	54476	RNF216	OMIM:212840
HP:0000496	Abnormality of eye movement	54476	RNF216	ORPHA:1173
HP:0000496	Abnormality of eye movement	4884	NPTX1	OMIM:620158
HP:0000496	Abnormality of eye movement	4038	LRP4	ORPHA:3258
HP:0000496	Abnormality of eye movement	324	APC	ORPHA:3258
HP:0000496	Abnormality of eye movement	1185	CLCN6	OMIM:619173
HP:0000496	Abnormality of eye movement	25839	COG4	ORPHA:263501
HP:0000496	Abnormality of eye movement	25839	COG4	OMIM:613489
HP:0000496	Abnormality of eye movement	64207	IRF2BPL	OMIM:618088
HP:0000496	Abnormality of eye movement	55157	DARS2	ORPHA:137898
HP:0000496	Abnormality of eye movement	55157	DARS2	OMIM:611105
HP:0000496	Abnormality of eye movement	8792	TNFRSF11A	OMIM:612301
HP:0000496	Abnormality of eye movement	8792	TNFRSF11A	ORPHA:1782
HP:0000496	Abnormality of eye movement	9570	GOSR2	OMIM:620166
HP:0000496	Abnormality of eye movement	54675	CRLS1	OMIM:620167
HP:0000496	Abnormality of eye movement	823	CAPN1	OMIM:616907
HP:0000496	Abnormality of eye movement	7274	TTPA	ORPHA:96
HP:0000496	Abnormality of eye movement	4598	MVK	OMIM:610377
HP:0000496	Abnormality of eye movement	3475	IFRD1	ORPHA:98771
HP:0000496	Abnormality of eye movement	3752	KCND3	ORPHA:98772
HP:0000496	Abnormality of eye movement	3752	KCND3	OMIM:607346
HP:0000496	Abnormality of eye movement	7840	ALMS1	ORPHA:64
HP:0000496	Abnormality of eye movement	7840	ALMS1	OMIM:203800
HP:0000496	Abnormality of eye movement	57096	RPGRIP1	ORPHA:65
HP:0000496	Abnormality of eye movement	10383	TUBB4B	ORPHA:65
HP:0000496	Abnormality of eye movement	10383	TUBB4B	OMIM:617879
HP:0000496	Abnormality of eye movement	9657	IQCB1	ORPHA:65
HP:0000496	Abnormality of eye movement	23746	AIPL1	ORPHA:65
HP:0000496	Abnormality of eye movement	477	ATP1A2	ORPHA:2131
HP:0000496	Abnormality of eye movement	477	ATP1A2	OMIM:104290
HP:0000496	Abnormality of eye movement	477	ATP1A2	ORPHA:442835
HP:0000496	Abnormality of eye movement	477	ATP1A2	OMIM:602481
HP:0000496	Abnormality of eye movement	478	ATP1A3	ORPHA:2131
HP:0000496	Abnormality of eye movement	478	ATP1A3	ORPHA:442835
HP:0000496	Abnormality of eye movement	478	ATP1A3	OMIM:601338
HP:0000496	Abnormality of eye movement	478	ATP1A3	OMIM:614820
HP:0000496	Abnormality of eye movement	90624	LYRM7	OMIM:615838
HP:0000496	Abnormality of eye movement	3748	KCNC3	ORPHA:98768
HP:0000496	Abnormality of eye movement	3748	KCNC3	OMIM:605259
HP:0000496	Abnormality of eye movement	493856	CISD2	ORPHA:3463
HP:0000496	Abnormality of eye movement	7466	WFS1	ORPHA:3463
HP:0000496	Abnormality of eye movement	7466	WFS1	OMIM:222300
HP:0000496	Abnormality of eye movement	724066	ATXN8	ORPHA:98760
HP:0000496	Abnormality of eye movement	724066	ATXN8	OMIM:608768
HP:0000496	Abnormality of eye movement	6315	ATXN8OS	ORPHA:98760
HP:0000496	Abnormality of eye movement	6315	ATXN8OS	OMIM:608768
HP:0000496	Abnormality of eye movement	23503	ZFYVE26	OMIM:270700
HP:0000496	Abnormality of eye movement	23503	ZFYVE26	ORPHA:100996
HP:0000496	Abnormality of eye movement	64135	IFIH1	OMIM:615846
HP:0000496	Abnormality of eye movement	64135	IFIH1	ORPHA:51
HP:0000496	Abnormality of eye movement	1910	EDNRB	OMIM:277580
HP:0000496	Abnormality of eye movement	9101	USP8	ORPHA:401795
HP:0000496	Abnormality of eye movement	55149	MTPAP	OMIM:613672
HP:0000496	Abnormality of eye movement	55149	MTPAP	ORPHA:254343
HP:0000496	Abnormality of eye movement	6390	SDHB	ORPHA:3208
HP:0000496	Abnormality of eye movement	6392	SDHD	ORPHA:3208
HP:0000496	Abnormality of eye movement	644096	SDHAF1	ORPHA:3208
HP:0000496	Abnormality of eye movement	200403	VWA3B	OMIM:616948
HP:0000496	Abnormality of eye movement	3166	HMX1	OMIM:612109
HP:0000496	Abnormality of eye movement	6314	ATXN7	ORPHA:94147
HP:0000496	Abnormality of eye movement	6314	ATXN7	OMIM:164500
HP:0000496	Abnormality of eye movement	701	BUB1B	OMIM:257300
HP:0000496	Abnormality of eye movement	28962	OSTM1	OMIM:259720
HP:0000496	Abnormality of eye movement	10682	EBP	OMIM:302960
HP:0000496	Abnormality of eye movement	6567	SLC16A2	ORPHA:59
HP:0000496	Abnormality of eye movement	5428	POLG	OMIM:607459
HP:0000496	Abnormality of eye movement	5428	POLG	ORPHA:70595
HP:0000496	Abnormality of eye movement	57724	EPG5	ORPHA:1493
HP:0000496	Abnormality of eye movement	57724	EPG5	OMIM:242840
HP:0000496	Abnormality of eye movement	10535	RNASEH2A	ORPHA:51
HP:0000496	Abnormality of eye movement	84153	RNASEH2C	ORPHA:51
HP:0000496	Abnormality of eye movement	84153	RNASEH2C	OMIM:610329
HP:0000496	Abnormality of eye movement	25939	SAMHD1	ORPHA:51
HP:0000496	Abnormality of eye movement	79621	RNASEH2B	ORPHA:51
HP:0000496	Abnormality of eye movement	54704	PDP1	OMIM:608782
HP:0000496	Abnormality of eye movement	8600	TNFSF11	OMIM:259710
HP:0000496	Abnormality of eye movement	8600	TNFSF11	ORPHA:667
HP:0000496	Abnormality of eye movement	8733	GPAA1	OMIM:617810
HP:0000496	Abnormality of eye movement	8733	GPAA1	ORPHA:529665
HP:0000496	Abnormality of eye movement	84816	RTN4IP1	OMIM:616732
HP:0000496	Abnormality of eye movement	57505	AARS2	OMIM:615889
HP:0000496	Abnormality of eye movement	79644	SRD5A3	OMIM:612379
HP:0000496	Abnormality of eye movement	79644	SRD5A3	ORPHA:324737
HP:0000496	Abnormality of eye movement	4041	LRP5	ORPHA:2790
HP:0000496	Abnormality of eye movement	23732	FRRS1L	OMIM:616981
HP:0000496	Abnormality of eye movement	10560	SLC19A2	OMIM:249270
HP:0000496	Abnormality of eye movement	4915	NTRK2	OMIM:617830
HP:0000496	Abnormality of eye movement	4915	NTRK2	ORPHA:442835
HP:0000496	Abnormality of eye movement	4358	MPV17	OMIM:256810
HP:0000496	Abnormality of eye movement	3796	KIF2A	OMIM:615411
HP:0000496	Abnormality of eye movement	55764	IFT122	OMIM:218330
HP:0000496	Abnormality of eye movement	55764	IFT122	ORPHA:1515
HP:0000496	Abnormality of eye movement	22926	ATF6	OMIM:616517
HP:0000496	Abnormality of eye movement	9750	RIPOR2	OMIM:616515
HP:0000496	Abnormality of eye movement	9997	SCO2	OMIM:604377
HP:0000496	Abnormality of eye movement	9997	SCO2	ORPHA:70474
HP:0000496	Abnormality of eye movement	8270	LAGE3	OMIM:301006
HP:0000496	Abnormality of eye movement	131669	UROC1	OMIM:276880
HP:0000496	Abnormality of eye movement	64857	PLEKHG2	OMIM:616763
HP:0000496	Abnormality of eye movement	26503	SLC17A5	OMIM:604369
HP:0000496	Abnormality of eye movement	26503	SLC17A5	OMIM:269920
HP:0000496	Abnormality of eye movement	60482	SLC5A7	ORPHA:98914
HP:0000496	Abnormality of eye movement	4649	MYO9A	ORPHA:98914
HP:0000496	Abnormality of eye movement	4649	MYO9A	OMIM:618198
HP:0000496	Abnormality of eye movement	1305	COL13A1	ORPHA:98914
HP:0000496	Abnormality of eye movement	6576	SLC25A1	ORPHA:98914
HP:0000496	Abnormality of eye movement	375790	AGRN	ORPHA:98914
HP:0000496	Abnormality of eye movement	127833	SYT2	ORPHA:98914
HP:0000496	Abnormality of eye movement	6572	SLC18A3	ORPHA:98914
HP:0000496	Abnormality of eye movement	6616	SNAP25	ORPHA:98914
HP:0000496	Abnormality of eye movement	84628	NTNG2	OMIM:618718
HP:0000496	Abnormality of eye movement	652	BMP4	ORPHA:139471
HP:0000496	Abnormality of eye movement	652	BMP4	OMIM:607932
HP:0000496	Abnormality of eye movement	7518	XRCC4	OMIM:616541
HP:0000496	Abnormality of eye movement	133686	NADK2	ORPHA:431361
HP:0000496	Abnormality of eye movement	133686	NADK2	OMIM:616034
HP:0000496	Abnormality of eye movement	26123	TCTN3	ORPHA:2754
HP:0000496	Abnormality of eye movement	5147	PDE6D	ORPHA:2754
HP:0000496	Abnormality of eye movement	9699	RIMS2	OMIM:618970
HP:0000496	Abnormality of eye movement	8884	SLC5A6	OMIM:618973
HP:0000496	Abnormality of eye movement	3832	KIF11	OMIM:152950
HP:0000496	Abnormality of eye movement	4747	NEFL	OMIM:617882
HP:0000496	Abnormality of eye movement	64221	ROBO3	ORPHA:2744
HP:0000496	Abnormality of eye movement	64221	ROBO3	OMIM:607313
HP:0000496	Abnormality of eye movement	1630	DCC	ORPHA:2744
HP:0000496	Abnormality of eye movement	1630	DCC	ORPHA:478
HP:0000496	Abnormality of eye movement	498	ATP5F1A	OMIM:615228
HP:0000496	Abnormality of eye movement	2137	EXTL3	ORPHA:508533
HP:0000496	Abnormality of eye movement	5274	SERPINI1	OMIM:604218
HP:0000496	Abnormality of eye movement	23646	PLD3	OMIM:617770
HP:0000496	Abnormality of eye movement	4099	MAG	OMIM:616680
HP:0000496	Abnormality of eye movement	4099	MAG	ORPHA:459056
HP:0000496	Abnormality of eye movement	6873	TAF2	OMIM:615599
HP:0000496	Abnormality of eye movement	755	CFAP410	OMIM:602271
HP:0000496	Abnormality of eye movement	10060	ABCC9	OMIM:619719
HP:0000496	Abnormality of eye movement	4538	MT-ND4	ORPHA:255210
HP:0000496	Abnormality of eye movement	4567	MT-TL1	ORPHA:255210
HP:0000496	Abnormality of eye movement	4578	MT-TW	ORPHA:255210
HP:0000496	Abnormality of eye movement	4577	MT-TV	ORPHA:255210
HP:0000496	Abnormality of eye movement	4540	MT-ND5	ORPHA:255210
HP:0000496	Abnormality of eye movement	4541	MT-ND6	ORPHA:255210
HP:0000496	Abnormality of eye movement	4566	MT-TK	ORPHA:255210
HP:0000496	Abnormality of eye movement	65082	VPS33A	OMIM:617303
HP:0000496	Abnormality of eye movement	65082	VPS33A	ORPHA:505248
HP:0000496	Abnormality of eye movement	112752	IFT43	ORPHA:1515
HP:0000496	Abnormality of eye movement	51098	IFT52	ORPHA:1515
HP:0000496	Abnormality of eye movement	51098	IFT52	OMIM:617102
HP:0000496	Abnormality of eye movement	57728	WDR19	ORPHA:1515
HP:0000496	Abnormality of eye movement	10559	SLC35A1	OMIM:603585
HP:0000496	Abnormality of eye movement	146057	TTBK2	OMIM:604432
HP:0000496	Abnormality of eye movement	2590	GALNT2	OMIM:618885
HP:0000496	Abnormality of eye movement	8560	DEGS1	OMIM:618404
HP:0000496	Abnormality of eye movement	343641	TGM6	ORPHA:276193
HP:0000496	Abnormality of eye movement	10715	CERS1	OMIM:616230
HP:0000496	Abnormality of eye movement	79731	NARS2	OMIM:616239
HP:0000496	Abnormality of eye movement	3737	KCNA2	ORPHA:442835
HP:0000496	Abnormality of eye movement	1759	DNM1	ORPHA:442835
HP:0000496	Abnormality of eye movement	1759	DNM1	OMIM:620352
HP:0000496	Abnormality of eye movement	8120	AP3B2	ORPHA:442835
HP:0000496	Abnormality of eye movement	10991	SLC38A3	ORPHA:442835
HP:0000496	Abnormality of eye movement	51343	FZR1	ORPHA:442835
HP:0000496	Abnormality of eye movement	22906	TRAK1	ORPHA:442835
HP:0000496	Abnormality of eye movement	1917	EEF1A2	ORPHA:442835
HP:0000496	Abnormality of eye movement	2561	GABRB2	ORPHA:442835
HP:0000496	Abnormality of eye movement	7532	YWHAG	ORPHA:442835
HP:0000496	Abnormality of eye movement	79876	UBA5	ORPHA:442835
HP:0000496	Abnormality of eye movement	6328	SCN3A	ORPHA:442835
HP:0000496	Abnormality of eye movement	2558	GABRA5	ORPHA:442835
HP:0000496	Abnormality of eye movement	2906	GRIN2D	ORPHA:442835
HP:0000496	Abnormality of eye movement	116150	NUS1	ORPHA:442835
HP:0000496	Abnormality of eye movement	10659	CELF2	ORPHA:442835
HP:0000496	Abnormality of eye movement	10659	CELF2	OMIM:619561
HP:0000496	Abnormality of eye movement	1213	CLTC	ORPHA:442835
HP:0000496	Abnormality of eye movement	23334	SZT2	ORPHA:442835
HP:0000496	Abnormality of eye movement	51412	ACTL6B	ORPHA:442835
HP:0000496	Abnormality of eye movement	348980	HCN1	ORPHA:442835
HP:0000496	Abnormality of eye movement	6506	SLC1A2	ORPHA:442835
HP:0000496	Abnormality of eye movement	8867	SYNJ1	ORPHA:442835
HP:0000496	Abnormality of eye movement	2258	FGF13	ORPHA:442835
HP:0000496	Abnormality of eye movement	3745	KCNB1	ORPHA:442835
HP:0000496	Abnormality of eye movement	284111	SLC13A5	ORPHA:442835
HP:0000496	Abnormality of eye movement	25977	NECAP1	ORPHA:442835
HP:0000496	Abnormality of eye movement	22866	CNKSR2	ORPHA:442835
HP:0000496	Abnormality of eye movement	9568	GABBR2	ORPHA:442835
HP:0000496	Abnormality of eye movement	2555	GABRA2	ORPHA:442835
HP:0000496	Abnormality of eye movement	55152	DALRD3	ORPHA:442835
HP:0000496	Abnormality of eye movement	26999	CYFIP2	ORPHA:442835
HP:0000496	Abnormality of eye movement	25973	PARS2	ORPHA:442835
HP:0000496	Abnormality of eye movement	23097	CDK19	ORPHA:442835
HP:0000496	Abnormality of eye movement	64801	ARV1	ORPHA:442835
HP:0000496	Abnormality of eye movement	2257	FGF12	ORPHA:442835
HP:0000496	Abnormality of eye movement	5530	PPP3CA	ORPHA:442835
HP:0000496	Abnormality of eye movement	3476	IGBP1	ORPHA:52055
HP:0000496	Abnormality of eye movement	3476	IGBP1	OMIM:300472
HP:0000496	Abnormality of eye movement	1947	EFNB1	OMIM:304110
HP:0000496	Abnormality of eye movement	54914	FOCAD	OMIM:619991
HP:0000496	Abnormality of eye movement	54902	TTC19	OMIM:615157
HP:0000496	Abnormality of eye movement	286	ANK1	ORPHA:251066
HP:0000496	Abnormality of eye movement	4669	NAGLU	OMIM:616491
HP:0000496	Abnormality of eye movement	84343	HPS3	OMIM:614072
HP:0000496	Abnormality of eye movement	388552	BLOC1S3	OMIM:614077
HP:0000496	Abnormality of eye movement	84062	DTNBP1	OMIM:614076
HP:0000496	Abnormality of eye movement	1356	CP	ORPHA:48818
HP:0000496	Abnormality of eye movement	2556	GABRA3	OMIM:301091
HP:0000496	Abnormality of eye movement	9319	TRIP13	OMIM:617598
HP:0000496	Abnormality of eye movement	85365	ALG2	OMIM:607906
HP:0000496	Abnormality of eye movement	57479	PRR12	OMIM:619539
HP:0000496	Abnormality of eye movement	83938	LRMDA	OMIM:615179
HP:0000496	Abnormality of eye movement	11152	WDR45	OMIM:615179
HP:0000496	Abnormality of eye movement	6683	SPAST	OMIM:182601
HP:0000496	Abnormality of eye movement	23189	KANK1	OMIM:612900
HP:0000496	Abnormality of eye movement	79053	ALG8	ORPHA:79325
HP:0000496	Abnormality of eye movement	79628	SH3TC2	OMIM:601596
HP:0000496	Abnormality of eye movement	79628	SH3TC2	ORPHA:99949
HP:0000496	Abnormality of eye movement	81570	CLPB	OMIM:616271
HP:0000496	Abnormality of eye movement	81570	CLPB	ORPHA:445038
HP:0000496	Abnormality of eye movement	5587	PRKD1	OMIM:617364
HP:0000496	Abnormality of eye movement	10371	SEMA3A	ORPHA:478
HP:0000496	Abnormality of eye movement	81848	SPRY4	ORPHA:478
HP:0000496	Abnormality of eye movement	23767	FLRT3	ORPHA:478
HP:0000496	Abnormality of eye movement	79625	NDNF	ORPHA:478
HP:0000496	Abnormality of eye movement	389549	FEZF1	ORPHA:478
HP:0000496	Abnormality of eye movement	3730	ANOS1	ORPHA:478
HP:0000496	Abnormality of eye movement	54756	IL17RD	ORPHA:478
HP:0000496	Abnormality of eye movement	285025	CCDC141	ORPHA:478
HP:0000496	Abnormality of eye movement	60675	PROK2	ORPHA:478
HP:0000496	Abnormality of eye movement	1848	DUSP6	ORPHA:478
HP:0000496	Abnormality of eye movement	6870	TACR3	ORPHA:478
HP:0000496	Abnormality of eye movement	9394	HS6ST1	ORPHA:478
HP:0000496	Abnormality of eye movement	8822	FGF17	ORPHA:478
HP:0000496	Abnormality of eye movement	23111	SPART	OMIM:275900
HP:0000496	Abnormality of eye movement	26277	TINF2	OMIM:268130
HP:0000496	Abnormality of eye movement	51728	POLR3K	OMIM:619310
HP:0000496	Abnormality of eye movement	85476	GFM1	OMIM:609060
HP:0000496	Abnormality of eye movement	6323	SCN1A	OMIM:619317
HP:0000496	Abnormality of eye movement	8675	STX16	ORPHA:94089
HP:0000496	Abnormality of eye movement	1186	CLCN7	ORPHA:667
HP:0000496	Abnormality of eye movement	29887	SNX10	ORPHA:667
HP:0000496	Abnormality of eye movement	6548	SLC9A1	OMIM:616291
HP:0000496	Abnormality of eye movement	56521	DNAJC12	OMIM:617384
HP:0000496	Abnormality of eye movement	1436	CSF1R	OMIM:618476
HP:0000496	Abnormality of eye movement	54765	TRIM44	OMIM:617142
HP:0000496	Abnormality of eye movement	54765	TRIM44	ORPHA:250923
HP:0000496	Abnormality of eye movement	1062	CENPE	OMIM:616051
HP:0000496	Abnormality of eye movement	8878	SQSTM1	OMIM:617145
HP:0000496	Abnormality of eye movement	29920	PYCR2	ORPHA:481152
HP:0000496	Abnormality of eye movement	29920	PYCR2	OMIM:616420
HP:0000496	Abnormality of eye movement	6898	TAT	ORPHA:28378
HP:0000496	Abnormality of eye movement	112812	FDX2	OMIM:251900
HP:0000496	Abnormality of eye movement	2705	GJB1	OMIM:302800
HP:0000496	Abnormality of eye movement	2705	GJB1	ORPHA:1175
HP:0000496	Abnormality of eye movement	8635	RNASET2	OMIM:612951
HP:0000496	Abnormality of eye movement	1200	TPP1	OMIM:609270
HP:0000496	Abnormality of eye movement	1938	EEF2	ORPHA:101112
HP:0000496	Abnormality of eye movement	1938	EEF2	OMIM:609306
HP:0000496	Abnormality of eye movement	55229	PANK4	OMIM:619593
HP:0000496	Abnormality of eye movement	145173	B3GLCT	OMIM:261540
HP:0000496	Abnormality of eye movement	145173	B3GLCT	ORPHA:709
HP:0000496	Abnormality of eye movement	57704	GBA2	ORPHA:320391
HP:0000496	Abnormality of eye movement	57704	GBA2	OMIM:614409
HP:0000496	Abnormality of eye movement	57704	GBA2	ORPHA:352641
HP:0000496	Abnormality of eye movement	627	BDNF	ORPHA:893
HP:0000496	Abnormality of eye movement	777	CACNA1E	OMIM:618285
HP:0000496	Abnormality of eye movement	55074	OXR1	OMIM:213000
HP:0000496	Abnormality of eye movement	3735	KARS1	OMIM:619147
HP:0000496	Abnormality of eye movement	27072	VPS41	OMIM:619389
HP:0000496	Abnormality of eye movement	60481	ELOVL5	ORPHA:423296
HP:0000496	Abnormality of eye movement	60481	ELOVL5	OMIM:615957
HP:0000496	Abnormality of eye movement	9131	AIFM1	OMIM:300232
HP:0000496	Abnormality of eye movement	23769	FLRT1	ORPHA:320406
HP:0000496	Abnormality of eye movement	64837	KLC2	ORPHA:320406
HP:0000496	Abnormality of eye movement	64837	KLC2	OMIM:609541
HP:0000496	Abnormality of eye movement	1119	CHKA	OMIM:620023
HP:0000496	Abnormality of eye movement	8496	PPFIBP1	OMIM:620024
HP:0000496	Abnormality of eye movement	6091	ROBO1	OMIM:257400
HP:0000496	Abnormality of eye movement	1352	COX10	OMIM:619046
HP:0000496	Abnormality of eye movement	100996717	NOTCH2NLC	ORPHA:2289
HP:0000496	Abnormality of eye movement	7102	TSPAN7	OMIM:300210
HP:0000496	Abnormality of eye movement	51360	MBTPS2	ORPHA:2273
HP:0000496	Abnormality of eye movement	55037	PTCD3	OMIM:619057
HP:0000496	Abnormality of eye movement	22897	CEP164	OMIM:614845
HP:0000496	Abnormality of eye movement	7276	TTR	OMIM:105210
HP:0000496	Abnormality of eye movement	26090	ABHD12	OMIM:612674
HP:0000496	Abnormality of eye movement	1600	DAB1	OMIM:615945
HP:0000496	Abnormality of eye movement	4338	MOCS2	OMIM:252160
HP:0000496	Abnormality of eye movement	10382	TUBB4A	OMIM:612438
HP:0000496	Abnormality of eye movement	5376	PMP22	ORPHA:3115
HP:0000496	Abnormality of eye movement	5376	PMP22	OMIM:145900
HP:0000496	Abnormality of eye movement	4359	MPZ	ORPHA:3115
HP:0000496	Abnormality of eye movement	4359	MPZ	OMIM:145900
HP:0000496	Abnormality of eye movement	443	ASPA	OMIM:271900
HP:0000496	Abnormality of eye movement	5956	OPN1LW	OMIM:303700
HP:0000496	Abnormality of eye movement	2652	OPN1MW	OMIM:303700
HP:0000496	Abnormality of eye movement	1593	CYP27A1	ORPHA:909
HP:0000496	Abnormality of eye movement	9255	AIMP1	OMIM:260600
HP:0000496	Abnormality of eye movement	5149	PDE6H	OMIM:610024
HP:0000496	Abnormality of eye movement	27286	SRPX2	ORPHA:98889
HP:0000496	Abnormality of eye movement	157570	ESCO2	ORPHA:3103
HP:0000496	Abnormality of eye movement	2521	FUS	ORPHA:300605
HP:0000496	Abnormality of eye movement	10280	SIGMAR1	ORPHA:300605
HP:0000496	Abnormality of eye movement	10558	SPTLC1	ORPHA:300605
HP:0000496	Abnormality of eye movement	255928	SYT14	ORPHA:284271
HP:0000496	Abnormality of eye movement	26227	PHGDH	OMIM:601815
HP:0000496	Abnormality of eye movement	282809	POC1B	OMIM:615973
HP:0000496	Abnormality of eye movement	85021	REPS1	OMIM:617916
HP:0000496	Abnormality of eye movement	92154	MTSS2	OMIM:620086
HP:0000496	Abnormality of eye movement	2581	GALC	OMIM:245200
HP:0000496	Abnormality of eye movement	80199	FUZ	ORPHA:1136
HP:0000496	Abnormality of eye movement	4094	MAF	ORPHA:1377
HP:0000496	Abnormality of eye movement	1413	CRYBA4	ORPHA:1377
HP:0000496	Abnormality of eye movement	1415	CRYBB2	ORPHA:1377
HP:0000496	Abnormality of eye movement	1421	CRYGD	ORPHA:1377
HP:0000496	Abnormality of eye movement	1261	CNGA3	OMIM:216900
HP:0000496	Abnormality of eye movement	1959	EGR2	OMIM:145900
HP:0000496	Abnormality of eye movement	57716	PRX	OMIM:145900
HP:0000496	Abnormality of eye movement	80207	OPA3	ORPHA:67036
HP:0000496	Abnormality of eye movement	80207	OPA3	ORPHA:67047
HP:0000496	Abnormality of eye movement	9420	CYP7B1	ORPHA:100986
HP:0000496	Abnormality of eye movement	9420	CYP7B1	OMIM:270800
HP:0000496	Abnormality of eye movement	27249	MMADHC	OMIM:277410
HP:0000496	Abnormality of eye movement	125988	MICOS13	ORPHA:67047
HP:0000496	Abnormality of eye movement	6609	SMPD1	ORPHA:77293
HP:0000496	Abnormality of eye movement	2058	EPRS1	OMIM:617951
HP:0000496	Abnormality of eye movement	128989	TANGO2	ORPHA:480864
HP:0000496	Abnormality of eye movement	57599	WDR48	ORPHA:401800
HP:0000496	Abnormality of eye movement	1641	DCX	OMIM:300067
HP:0000496	Abnormality of eye movement	9419	CRIPT	OMIM:615789
HP:0000496	Abnormality of eye movement	27010	TPK1	OMIM:614458
HP:0000496	Abnormality of eye movement	79955	PDZD7	ORPHA:231178
HP:0000496	Abnormality of eye movement	25861	WHRN	ORPHA:231178
HP:0000496	Abnormality of eye movement	84059	ADGRV1	ORPHA:231178
HP:0000496	Abnormality of eye movement	51501	HIKESHI	OMIM:616881
HP:0000496	Abnormality of eye movement	58494	JAM2	OMIM:618824
HP:0000496	Abnormality of eye movement	22931	RAB18	OMIM:614222
HP:0000496	Abnormality of eye movement	4337	MOCS1	OMIM:252150
HP:0000496	Abnormality of eye movement	22934	RPIA	OMIM:608611
HP:0000496	Abnormality of eye movement	4796	TONSL	ORPHA:93357
HP:0000496	Abnormality of eye movement	26047	CNTNAP2	ORPHA:163681
HP:0000496	Abnormality of eye movement	4714	NDUFB8	ORPHA:70474
HP:0000496	Abnormality of eye movement	2670	GFAP	ORPHA:363722
HP:0000496	Abnormality of eye movement	5500	PPP1CB	OMIM:617506
HP:0000496	Abnormality of eye movement	100506658	OCLN	OMIM:251290
HP:0000496	Abnormality of eye movement	9197	SLC33A1	OMIM:614482
HP:0000496	Abnormality of eye movement	200205	IBA57	OMIM:615330
HP:0000496	Abnormality of eye movement	22943	DKK1	ORPHA:268882
HP:0000496	Abnormality of eye movement	55315	SLC29A3	ORPHA:1782
HP:0000496	Abnormality of eye movement	25974	MMACHC	ORPHA:79282
HP:0000496	Abnormality of eye movement	25974	MMACHC	OMIM:277400
HP:0000496	Abnormality of eye movement	547	KIF1A	OMIM:614255
HP:0000496	Abnormality of eye movement	6736	SRY	ORPHA:1772
HP:0000496	Abnormality of eye movement	55753	OGDHL	OMIM:619701
HP:0000496	Abnormality of eye movement	22868	FASTKD2	OMIM:618855
HP:0000496	Abnormality of eye movement	5052	PRDX1	OMIM:277400
HP:0000496	Abnormality of eye movement	267010	RNU12	ORPHA:512260
HP:0000496	Abnormality of eye movement	4287	ATXN3	OMIM:109150
HP:0000496	Abnormality of eye movement	4287	ATXN3	ORPHA:276244
HP:0000496	Abnormality of eye movement	4287	ATXN3	ORPHA:276241
HP:0000496	Abnormality of eye movement	4287	ATXN3	ORPHA:276238
HP:0000496	Abnormality of eye movement	4361	MRE11	ORPHA:251347
HP:0000496	Abnormality of eye movement	4361	MRE11	OMIM:604391
HP:0000496	Abnormality of eye movement	785	CACNB4	OMIM:613855
HP:0000496	Abnormality of eye movement	785	CACNB4	ORPHA:211067
HP:0000496	Abnormality of eye movement	27235	COQ2	ORPHA:227510
HP:0000496	Abnormality of eye movement	27235	COQ2	OMIM:146500
HP:0000496	Abnormality of eye movement	27235	COQ2	ORPHA:98933
HP:0000496	Abnormality of eye movement	55775	TDP1	ORPHA:94124
HP:0000496	Abnormality of eye movement	5582	PRKCG	ORPHA:98763
HP:0000496	Abnormality of eye movement	6507	SLC1A3	ORPHA:209967
HP:0000496	Abnormality of eye movement	25814	ATXN10	ORPHA:98761
HP:0000496	Abnormality of eye movement	55187	VPS13D	OMIM:607317
HP:0000496	Abnormality of eye movement	6311	ATXN2	OMIM:183090
HP:0000496	Abnormality of eye movement	3708	ITPR1	OMIM:117360
HP:0000496	Abnormality of eye movement	2895	GRID2	ORPHA:363432
HP:0000496	Abnormality of eye movement	7345	UCHL1	OMIM:615491
HP:0000496	Abnormality of eye movement	10273	STUB1	ORPHA:412057
HP:0000496	Abnormality of eye movement	51741	WWOX	OMIM:614322
HP:0000496	Abnormality of eye movement	54834	GDAP2	OMIM:618369
HP:0000496	Abnormality of eye movement	10939	AFG3L2	OMIM:610246
HP:0000496	Abnormality of eye movement	23203	PMPCA	OMIM:213200
HP:0000496	Abnormality of eye movement	23203	PMPCA	ORPHA:1170
HP:0000496	Abnormality of eye movement	10935	PRDX3	OMIM:619862
HP:0000496	Abnormality of eye movement	54664	TMEM106B	OMIM:617964
HP:0000496	Abnormality of eye movement	51271	UBAP1	OMIM:618418
HP:0000496	Abnormality of eye movement	5981	RFC1	OMIM:614575
HP:0000496	Abnormality of eye movement	54840	APTX	OMIM:208920
HP:0000496	Abnormality of eye movement	6908	TBP	OMIM:607136
HP:0000496	Abnormality of eye movement	6310	ATXN1	OMIM:164400
HP:0000496	Abnormality of eye movement	55703	POLR3B	OMIM:607694
HP:0000496	Abnormality of eye movement	11128	POLR3A	OMIM:607694
HP:0000496	Abnormality of eye movement	57410	SCYL1	ORPHA:466794
HP:0000496	Abnormality of eye movement	9927	MFN2	OMIM:601152
HP:0000496	Abnormality of eye movement	613	BCR	ORPHA:261330
HP:0000496	Abnormality of eye movement	1399	CRKL	ORPHA:261330
HP:0000496	Abnormality of eye movement	5594	MAPK1	ORPHA:261330
HP:0000496	Abnormality of eye movement	215	ABCD1	ORPHA:139396
HP:0000496	Abnormality of eye movement	3756	KCNH1	OMIM:135500
HP:0000496	Abnormality of eye movement	84314	TMEM107	OMIM:617563
HP:0000496	Abnormality of eye movement	84314	TMEM107	OMIM:617562
HP:0000496	Abnormality of eye movement	6697	SPR	OMIM:612716
HP:0000496	Abnormality of eye movement	7305	TYROBP	ORPHA:2770
HP:0000496	Abnormality of eye movement	54209	TREM2	ORPHA:2770
HP:0000496	Abnormality of eye movement	54209	TREM2	ORPHA:1020
HP:0000496	Abnormality of eye movement	22983	MAST1	OMIM:618273
HP:0000496	Abnormality of eye movement	5663	PSEN1	ORPHA:1020
HP:0000496	Abnormality of eye movement	5664	PSEN2	ORPHA:1020
HP:0000496	Abnormality of eye movement	10452	TOMM40	ORPHA:1020
HP:0000496	Abnormality of eye movement	351	APP	ORPHA:1020
HP:0000496	Abnormality of eye movement	10347	ABCA7	ORPHA:1020
HP:0000496	Abnormality of eye movement	6653	SORL1	ORPHA:1020
HP:0000496	Abnormality of eye movement	10749	KIF1C	ORPHA:397946
HP:0000496	Abnormality of eye movement	10749	KIF1C	OMIM:611302
HP:0000496	Abnormality of eye movement	92935	MARS2	OMIM:611390
HP:0000496	Abnormality of eye movement	92935	MARS2	ORPHA:314603
HP:0000496	Abnormality of eye movement	347734	SLC35B2	OMIM:620269
HP:0000496	Abnormality of eye movement	5159	PDGFRB	OMIM:615007
HP:0000496	Abnormality of eye movement	3417	IDH1	ORPHA:99646
HP:0000496	Abnormality of eye movement	4929	NR4A2	ORPHA:98808
HP:0000496	Abnormality of eye movement	3615	IMPDH2	ORPHA:98808
HP:0000496	Abnormality of eye movement	3035	HARS1	OMIM:614504
HP:0000496	Abnormality of eye movement	89781	HPS4	OMIM:614073
HP:0000496	Abnormality of eye movement	6182	MRPL12	OMIM:618951
HP:0000496	Abnormality of eye movement	9474	ATG5	OMIM:617584
HP:0000496	Abnormality of eye movement	2625	GATA3	OMIM:146255
HP:0000496	Abnormality of eye movement	3798	KIF5A	OMIM:617235
HP:0000496	Abnormality of eye movement	57731	SPTBN4	OMIM:617519
HP:0000496	Abnormality of eye movement	84188	FAR1	ORPHA:447753
HP:0000496	Abnormality of eye movement	1804	DPP6	ORPHA:2514
HP:0000496	Abnormality of eye movement	7515	XRCC1	OMIM:617633
HP:0000496	Abnormality of eye movement	81790	RNF170	OMIM:619686
HP:0000496	Abnormality of eye movement	261734	NPHP4	OMIM:606996
HP:0000496	Abnormality of eye movement	91452	ACBD5	OMIM:618863
HP:0000496	Abnormality of eye movement	51660	MPC1	OMIM:614741
HP:0000496	Abnormality of eye movement	9894	TELO2	ORPHA:488642
HP:0000496	Abnormality of eye movement	9894	TELO2	OMIM:616954
HP:0000496	Abnormality of eye movement	1201	CLN3	ORPHA:228346
HP:0000496	Abnormality of eye movement	2671	GFER	ORPHA:330054
HP:0000496	Abnormality of eye movement	129285	PPP1R21	OMIM:619383
HP:0000496	Abnormality of eye movement	55163	PNPO	OMIM:610090
HP:0000496	Abnormality of eye movement	3781	KCNN2	OMIM:619724
HP:0000496	Abnormality of eye movement	55503	TRPV6	OMIM:618188
HP:0000496	Abnormality of eye movement	3852	KRT5	ORPHA:79396
HP:0000496	Abnormality of eye movement	3861	KRT14	ORPHA:79396
HP:0000496	Abnormality of eye movement	221927	BRAT1	OMIM:618056
HP:0000496	Abnormality of eye movement	29968	PSAT1	ORPHA:284417
HP:0000496	Abnormality of eye movement	8314	BAP1	ORPHA:2495
HP:0000496	Abnormality of eye movement	4771	NF2	ORPHA:2495
HP:0000496	Abnormality of eye movement	6598	SMARCB1	ORPHA:2495
HP:0000496	Abnormality of eye movement	5155	PDGFB	ORPHA:2495
HP:0000496	Abnormality of eye movement	84231	TRAF7	ORPHA:2495
HP:0000496	Abnormality of eye movement	6608	SMO	ORPHA:2495
HP:0000496	Abnormality of eye movement	207	AKT1	ORPHA:2495
HP:0000496	Abnormality of eye movement	5290	PIK3CA	ORPHA:2495
HP:0000496	Abnormality of eye movement	7015	TERT	ORPHA:2495
HP:0000496	Abnormality of eye movement	51684	SUFU	ORPHA:2495
HP:0000496	Abnormality of eye movement	6605	SMARCE1	ORPHA:2495
HP:0000496	Abnormality of eye movement	88	ACTN2	OMIM:618654
HP:0000496	Abnormality of eye movement	2562	GABRB3	ORPHA:64280
HP:0000496	Abnormality of eye movement	8912	CACNA1H	ORPHA:64280
HP:0000496	Abnormality of eye movement	135	ADORA2A	ORPHA:363549
HP:0000496	Abnormality of eye movement	283989	TSEN54	OMIM:277470
HP:0000496	Abnormality of eye movement	5048	PAFAH1B1	ORPHA:95232
HP:0000496	Abnormality of eye movement	5162	PDHB	ORPHA:255138
HP:0000496	Abnormality of eye movement	2512	FTL	ORPHA:157846
HP:0000496	Abnormality of eye movement	3198	HOXA1	OMIM:601536
HP:0000496	Abnormality of eye movement	22854	NTNG1	ORPHA:3095
HP:0000496	Abnormality of eye movement	4204	MECP2	ORPHA:3095
HP:0000496	Abnormality of eye movement	401	PHOX2A	OMIM:602078
HP:0000496	Abnormality of eye movement	55605	KIF21A	OMIM:135700
HP:0000496	Abnormality of eye movement	203547	VMA21	OMIM:310440
HP:0000496	Abnormality of eye movement	64072	CDH23	ORPHA:91347
HP:0000496	Abnormality of eye movement	64072	CDH23	ORPHA:2965
HP:0000496	Abnormality of eye movement	4221	MEN1	ORPHA:2965
HP:0000496	Abnormality of eye movement	9049	AIP	ORPHA:2965
HP:0000496	Abnormality of eye movement	5081	PAX7	OMIM:618578
HP:0000496	Abnormality of eye movement	92002	CCNQ	OMIM:300707
HP:0000496	Abnormality of eye movement	9969	MED13	OMIM:618009
HP:0000496	Abnormality of eye movement	57178	ZMIZ1	OMIM:618659
HP:0000496	Abnormality of eye movement	26012	NSMF	OMIM:614838
HP:0000496	Abnormality of eye movement	23095	KIF1B	OMIM:256700
HP:0000496	Abnormality of eye movement	112476	PRRT2	ORPHA:569
HP:0000496	Abnormality of eye movement	2196	FAT2	OMIM:617769
HP:0000496	Abnormality of eye movement	611	OPN1SW	ORPHA:88629
HP:0000496	Abnormality of eye movement	9725	TMEM63A	OMIM:618688
HP:0000496	Abnormality of eye movement	90167	FRMD7	OMIM:310700
HP:0000496	Abnormality of eye movement	23636	NUP62	OMIM:271930
HP:0000496	Abnormality of eye movement	55714	TENM3	OMIM:615145
HP:0000496	Abnormality of eye movement	3149	HMGB3	OMIM:300915
HP:0000496	Abnormality of eye movement	59341	TRPV4	OMIM:606071
HP:0000496	Abnormality of eye movement	10000	AKT3	ORPHA:99802
HP:0000496	Abnormality of eye movement	54658	UGT1A1	ORPHA:79234
HP:0000496	Abnormality of eye movement	55901	THSD1	ORPHA:231160
HP:0000496	Abnormality of eye movement	7049	TGFBR3	ORPHA:231160
HP:0000496	Abnormality of eye movement	83854	ANGPTL6	ORPHA:231160
HP:0000496	Abnormality of eye movement	2022	ENG	ORPHA:231160
HP:0000496	Abnormality of eye movement	51241	COX16	OMIM:619355
HP:0000496	Abnormality of eye movement	2760	GM2A	ORPHA:309246
HP:0000496	Abnormality of eye movement	2903	GRIN2A	ORPHA:289266
HP:0000496	Abnormality of eye movement	54517	PUS7	OMIM:618342
HP:0000496	Abnormality of eye movement	5119	CHMP1A	OMIM:614961
HP:0000496	Abnormality of eye movement	2186	BPTF	OMIM:617755
HP:0000496	Abnormality of eye movement	55610	VPS50	OMIM:619685
HP:0000496	Abnormality of eye movement	5058	PAK1	OMIM:618158
HP:0000496	Abnormality of eye movement	83479	DDX59	OMIM:174300
HP:0000496	Abnormality of eye movement	55367	PIDD1	OMIM:619827
HP:0000496	Abnormality of eye movement	9382	COG1	OMIM:611209
HP:0000496	Abnormality of eye movement	55343	SLC35C1	ORPHA:99843
HP:0000496	Abnormality of eye movement	51116	MRPS2	OMIM:617950
HP:0000496	Abnormality of eye movement	23327	NEDD4L	OMIM:617201
HP:0000496	Abnormality of eye movement	2890	GRIA1	OMIM:619931
HP:0000496	Abnormality of eye movement	91754	NEK9	OMIM:614262
HP:0000496	Abnormality of eye movement	9488	PIGB	OMIM:618580
HP:0000496	Abnormality of eye movement	5903	RANBP2	ORPHA:88619
HP:0000496	Abnormality of eye movement	25930	PTPN23	OMIM:618890
HP:0000496	Abnormality of eye movement	27183	VPS4A	OMIM:619273
HP:0000496	Abnormality of eye movement	55704	CCDC88A	OMIM:617507
HP:0000496	Abnormality of eye movement	224	ALDH3A2	OMIM:270200
HP:0000496	Abnormality of eye movement	6531	SLC6A3	OMIM:613135
HP:0000496	Abnormality of eye movement	57007	ACKR3	OMIM:619215
HP:0000496	Abnormality of eye movement	51091	SEPSECS	OMIM:613811
HP:0002600	Hyporeflexia of lower limbs	3475	IFRD1	ORPHA:98771
HP:0002600	Hyporeflexia of lower limbs	23769	FLRT1	ORPHA:320406
HP:0002600	Hyporeflexia of lower limbs	64837	KLC2	ORPHA:320406
HP:0002600	Hyporeflexia of lower limbs	3315	HSPB1	OMIM:608634
HP:0002600	Hyporeflexia of lower limbs	4099	MAG	OMIM:616680
HP:0002600	Hyporeflexia of lower limbs	1674	DES	OMIM:601419
HP:0002600	Hyporeflexia of lower limbs	25923	ATL3	OMIM:615632
HP:0002600	Hyporeflexia of lower limbs	9517	SPTLC2	OMIM:613640
HP:0002600	Hyporeflexia of lower limbs	2318	FLNC	ORPHA:63273
HP:0002600	Hyporeflexia of lower limbs	5376	PMP22	ORPHA:90658
HP:0002600	Hyporeflexia of lower limbs	22868	FASTKD2	OMIM:618855
HP:0002600	Hyporeflexia of lower limbs	4000	LMNA	ORPHA:98855
HP:0002600	Hyporeflexia of lower limbs	26353	HSPB8	OMIM:158590
HP:0002600	Hyporeflexia of lower limbs	9711	RUBCN	OMIM:615705
HP:0002600	Hyporeflexia of lower limbs	9499	MYOT	OMIM:609200
HP:0002600	Hyporeflexia of lower limbs	5582	PRKCG	ORPHA:98763
HP:0002600	Hyporeflexia of lower limbs	10159	ATP6AP2	ORPHA:93952
HP:0002600	Hyporeflexia of lower limbs	6786	STIM1	OMIM:160565
HP:0002600	Hyporeflexia of lower limbs	8139	GAN	OMIM:256850
HP:0002600	Hyporeflexia of lower limbs	55149	MTPAP	OMIM:613672
HP:0002600	Hyporeflexia of lower limbs	81545	FBXO38	OMIM:615575
HP:0002600	Hyporeflexia of lower limbs	8291	DYSF	OMIM:254130
HP:0002600	Hyporeflexia of lower limbs	200205	IBA57	ORPHA:468661
HP:0002600	Hyporeflexia of lower limbs	54332	GDAP1	ORPHA:99948
HP:0002600	Hyporeflexia of lower limbs	5165	PDK3	OMIM:300905
HP:0002600	Hyporeflexia of lower limbs	1410	CRYAB	OMIM:608810
HP:0002600	Hyporeflexia of lower limbs	122622	ADSS1	ORPHA:482601
HP:0002600	Hyporeflexia of lower limbs	65055	REEP1	OMIM:614751
HP:0002600	Hyporeflexia of lower limbs	23299	BICD2	OMIM:615290
HP:0002600	Hyporeflexia of lower limbs	79784	MYH14	OMIM:614369
HP:0002600	Hyporeflexia of lower limbs	3032	HADHB	ORPHA:746
HP:0002600	Hyporeflexia of lower limbs	3030	HADHA	ORPHA:746
HP:0002600	Hyporeflexia of lower limbs	11155	LDB3	ORPHA:98912
HP:0002600	Hyporeflexia of lower limbs	10516	FBLN5	OMIM:608895
HP:0002600	Hyporeflexia of lower limbs	4625	MYH7	ORPHA:437572
HP:0002600	Hyporeflexia of lower limbs	1778	DYNC1H1	OMIM:158600
HP:0002600	Hyporeflexia of lower limbs	10079	ATP9A	OMIM:620242
HP:0002131	Episodic ataxia	3736	KCNA1	OMIM:160120
HP:0002131	Episodic ataxia	3736	KCNA1	ORPHA:1934
HP:0002131	Episodic ataxia	6326	SCN2A	OMIM:618924
HP:0002131	Episodic ataxia	6326	SCN2A	ORPHA:1934
HP:0002131	Episodic ataxia	340024	SLC6A19	OMIM:234500
HP:0002131	Episodic ataxia	5009	OTC	OMIM:311250
HP:0002131	Episodic ataxia	785	CACNB4	OMIM:613855
HP:0002131	Episodic ataxia	785	CACNB4	OMIM:607682
HP:0002131	Episodic ataxia	4784	NFIX	ORPHA:420179
HP:0002131	Episodic ataxia	6513	SLC2A1	OMIM:601042
HP:0002131	Episodic ataxia	6513	SLC2A1	ORPHA:53583
HP:0002131	Episodic ataxia	773	CACNA1A	OMIM:108500
HP:0002131	Episodic ataxia	478	ATP1A3	OMIM:601338
HP:0002131	Episodic ataxia	5160	PDHA1	OMIM:312170
HP:0002131	Episodic ataxia	6507	SLC1A3	OMIM:612656
HP:0002131	Episodic ataxia	27010	TPK1	OMIM:614458
HP:0002131	Episodic ataxia	6792	CDKL5	ORPHA:1934
HP:0002131	Episodic ataxia	9091	PIGQ	ORPHA:1934
HP:0002131	Episodic ataxia	2775	GNAO1	ORPHA:1934
HP:0002131	Episodic ataxia	81603	TRIM8	ORPHA:1934
HP:0002131	Episodic ataxia	2902	GRIN1	ORPHA:1934
HP:0002131	Episodic ataxia	79751	SLC25A22	ORPHA:1934
HP:0002131	Episodic ataxia	150094	SIK1	ORPHA:1934
HP:0002131	Episodic ataxia	8573	CASK	ORPHA:1934
HP:0002131	Episodic ataxia	23312	DMXL2	ORPHA:1934
HP:0002131	Episodic ataxia	2917	GRM7	ORPHA:1934
HP:0002131	Episodic ataxia	170302	ARX	ORPHA:1934
HP:0002131	Episodic ataxia	11284	PNKP	ORPHA:1934
HP:0002131	Episodic ataxia	51227	PIGP	ORPHA:1934
HP:0002131	Episodic ataxia	6324	SCN1B	ORPHA:1934
HP:0002131	Episodic ataxia	4761	NEUROD2	ORPHA:1934
HP:0002131	Episodic ataxia	477	ATP1A2	OMIM:602481
HP:0006863	Severe expressive language delay	89970	RSPRY1	ORPHA:457395
HP:0006863	Severe expressive language delay	1806	DPYD	ORPHA:1675
HP:0006863	Severe expressive language delay	6872	TAF1	ORPHA:480907
HP:0006863	Severe expressive language delay	171023	ASXL1	ORPHA:97297
HP:0006863	Severe expressive language delay	79813	EHMT1	ORPHA:261652
HP:0006863	Severe expressive language delay	58508	KMT2C	ORPHA:261652
HP:0006863	Severe expressive language delay	8925	HERC1	ORPHA:457359
HP:0006863	Severe expressive language delay	25970	SH2B1	ORPHA:261197
HP:0006863	Severe expressive language delay	57492	ARID1B	OMIM:135900
HP:0006863	Severe expressive language delay	2892	GRIA3	ORPHA:364028
HP:0006863	Severe expressive language delay	23126	POGZ	ORPHA:468678
HP:0006866	Midline central nervous system lipomas	257	ALX3	OMIM:136760
HP:0006866	Midline central nervous system lipomas	257	ALX3	ORPHA:391474
HP:0006866	Midline central nervous system lipomas	8092	ALX1	ORPHA:306542
HP:0006866	Midline central nervous system lipomas	57688	ZSWIM6	OMIM:603671
HP:0002123	Generalized myoclonic seizure	401474	SAMD12	OMIM:601068
HP:0002123	Generalized myoclonic seizure	4558	MT-TF	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4558	MT-TF	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4549	MT-RNR1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4574	MT-TS1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4575	MT-TS2	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4571	MT-TP	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4571	MT-TP	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4572	MT-TQ	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4540	MT-ND5	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4540	MT-ND5	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4564	MT-TH	ORPHA:551
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	OMIM:607208
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	OMIM:604403
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	ORPHA:101039
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	OMIM:300088
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	10059	DNM1L	ORPHA:330050
HP:0002123	Generalized myoclonic seizure	7915	ALDH5A1	ORPHA:22
HP:0002123	Generalized myoclonic seizure	7915	ALDH5A1	OMIM:271980
HP:0002123	Generalized myoclonic seizure	4524	MTHFR	ORPHA:395
HP:0002123	Generalized myoclonic seizure	340533	NEXMIF	OMIM:300912
HP:0002123	Generalized myoclonic seizure	340533	NEXMIF	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	57468	SLC12A5	OMIM:616685
HP:0002123	Generalized myoclonic seizure	1859	DYRK1A	ORPHA:268261
HP:0002123	Generalized myoclonic seizure	343450	KCNT2	OMIM:617771
HP:0002123	Generalized myoclonic seizure	8818	DPM2	ORPHA:329178
HP:0002123	Generalized myoclonic seizure	2720	GLB1	OMIM:230600
HP:0002123	Generalized myoclonic seizure	2896	GRN	OMIM:614706
HP:0002123	Generalized myoclonic seizure	170302	ARX	OMIM:308350
HP:0002123	Generalized myoclonic seizure	4758	NEU1	ORPHA:93399
HP:0002123	Generalized myoclonic seizure	64324	NSD1	ORPHA:821
HP:0002123	Generalized myoclonic seizure	29072	SETD2	ORPHA:821
HP:0002123	Generalized myoclonic seizure	10297	APC2	ORPHA:821
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	OMIM:605021
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	ORPHA:352596
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	ORPHA:352582
HP:0002123	Generalized myoclonic seizure	501	ALDH7A1	OMIM:266100
HP:0002123	Generalized myoclonic seizure	4535	MT-ND1	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4536	MT-ND2	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4537	MT-ND3	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4538	MT-ND4	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4578	MT-TW	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4577	MT-TV	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4508	MT-ATP6	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4541	MT-ND6	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	6792	CDKL5	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	6792	CDKL5	OMIM:300672
HP:0002123	Generalized myoclonic seizure	22854	NTNG1	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	9568	GABBR2	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	4204	MECP2	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	8243	SMC1A	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	2593	GAMT	ORPHA:382
HP:0002123	Generalized myoclonic seizure	2563	GABRD	OMIM:613060
HP:0002123	Generalized myoclonic seizure	2563	GABRD	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	79587	CARS2	ORPHA:477774
HP:0002123	Generalized myoclonic seizure	1106	CHD2	OMIM:615369
HP:0002123	Generalized myoclonic seizure	1106	CHD2	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	1106	CHD2	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	55768	NGLY1	ORPHA:404454
HP:0002123	Generalized myoclonic seizure	54820	NDE1	OMIM:605013
HP:0002123	Generalized myoclonic seizure	3767	KCNJ11	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	6774	STAT3	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	2645	GCK	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	3651	PDX1	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	6833	ABCC8	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	3630	INS	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	154881	KCTD7	OMIM:611726
HP:0002123	Generalized myoclonic seizure	10166	SLC25A15	ORPHA:415
HP:0002123	Generalized myoclonic seizure	10166	SLC25A15	OMIM:238970
HP:0002123	Generalized myoclonic seizure	427	ASAH1	OMIM:159950
HP:0002123	Generalized myoclonic seizure	427	ASAH1	ORPHA:2590
HP:0002123	Generalized myoclonic seizure	4694	NDUFA1	OMIM:301020
HP:0002123	Generalized myoclonic seizure	150094	SIK1	OMIM:616341
HP:0002123	Generalized myoclonic seizure	150094	SIK1	ORPHA:1935
HP:0002123	Generalized myoclonic seizure	116150	NUS1	OMIM:617831
HP:0002123	Generalized myoclonic seizure	79947	DHDDS	OMIM:617836
HP:0002123	Generalized myoclonic seizure	686	BTD	ORPHA:79241
HP:0002123	Generalized myoclonic seizure	10939	AFG3L2	ORPHA:313772
HP:0002123	Generalized myoclonic seizure	10939	AFG3L2	OMIM:614487
HP:0002123	Generalized myoclonic seizure	128989	TANGO2	ORPHA:480864
HP:0002123	Generalized myoclonic seizure	57531	HACE1	ORPHA:464282
HP:0002123	Generalized myoclonic seizure	57531	HACE1	OMIM:616756
HP:0002123	Generalized myoclonic seizure	80856	LNPK	OMIM:618090
HP:0002123	Generalized myoclonic seizure	51651	PTRH2	ORPHA:456312
HP:0002123	Generalized myoclonic seizure	1759	DNM1	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	2562	GABRB3	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	5602	MAPK10	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	773	CACNA1A	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	23316	CUX2	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	23316	CUX2	OMIM:618141
HP:0002123	Generalized myoclonic seizure	4565	MT-TI	OMIM:545000
HP:0002123	Generalized myoclonic seizure	5277	PIGA	OMIM:300868
HP:0002123	Generalized myoclonic seizure	83696	TRAPPC9	ORPHA:352530
HP:0002123	Generalized myoclonic seizure	6785	ELOVL4	OMIM:614457
HP:0002123	Generalized myoclonic seizure	26227	PHGDH	ORPHA:79351
HP:0002123	Generalized myoclonic seizure	144165	PRICKLE1	OMIM:612437
HP:0002123	Generalized myoclonic seizure	6335	SCN9A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6335	SCN9A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	112755	STX1B	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6326	SCN2A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6326	SCN2A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	OMIM:617350
HP:0002123	Generalized myoclonic seizure	348980	HCN1	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	84059	ADGRV1	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	2566	GABRG2	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	2566	GABRG2	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	2629	GBA1	OMIM:231000
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:2072
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:77261
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:77260
HP:0002123	Generalized myoclonic seizure	1798	DPAGT1	ORPHA:86309
HP:0002123	Generalized myoclonic seizure	6611	SMS	ORPHA:3063
HP:0002123	Generalized myoclonic seizure	57061	HYMAI	ORPHA:96191
HP:0002123	Generalized myoclonic seizure	5325	PLAGL1	ORPHA:96191
HP:0002123	Generalized myoclonic seizure	56978	PRDM8	OMIM:616640
HP:0002123	Generalized myoclonic seizure	6812	STXBP1	OMIM:612164
HP:0002123	Generalized myoclonic seizure	51604	PIGT	ORPHA:369837
HP:0002123	Generalized myoclonic seizure	10815	CPLX1	OMIM:617976
HP:0002123	Generalized myoclonic seizure	10815	CPLX1	ORPHA:352582
HP:0002123	Generalized myoclonic seizure	4983	OPHN1	ORPHA:137831
HP:0002123	Generalized myoclonic seizure	79751	SLC25A22	OMIM:609304
HP:0002123	Generalized myoclonic seizure	79751	SLC25A22	ORPHA:1935
HP:0002123	Generalized myoclonic seizure	2554	GABRA1	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	378884	NHLRC1	ORPHA:501
HP:0002123	Generalized myoclonic seizure	378884	NHLRC1	OMIM:254780
HP:0002123	Generalized myoclonic seizure	7957	EPM2A	ORPHA:501
HP:0002123	Generalized myoclonic seizure	7957	EPM2A	OMIM:254780
HP:0002123	Generalized myoclonic seizure	5293	PIK3CD	ORPHA:221139
HP:0002123	Generalized myoclonic seizure	5293	PIK3CD	OMIM:613328
HP:0002123	Generalized myoclonic seizure	90417	KNSTRN	ORPHA:221139
HP:0002123	Generalized myoclonic seizure	90417	KNSTRN	OMIM:613328
HP:0002123	Generalized myoclonic seizure	9289	ADGRG1	ORPHA:101070
HP:0002123	Generalized myoclonic seizure	5728	PTEN	ORPHA:101070
HP:0002123	Generalized myoclonic seizure	51124	IER3IP1	OMIM:614231
HP:0002123	Generalized myoclonic seizure	10991	SLC38A3	OMIM:619881
HP:0002123	Generalized myoclonic seizure	79143	MBOAT7	OMIM:617188
HP:0002123	Generalized myoclonic seizure	283989	TSEN54	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	116461	TSEN15	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	79042	TSEN34	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	80746	TSEN2	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	51091	SEPSECS	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	256471	MFSD8	OMIM:610951
HP:0002123	Generalized myoclonic seizure	114327	EFHC1	OMIM:607631
HP:0002123	Generalized myoclonic seizure	1181	CLCN2	OMIM:607628
HP:0002123	Generalized myoclonic seizure	54802	TRIT1	OMIM:617873
HP:0002123	Generalized myoclonic seizure	84823	LMNB2	OMIM:616540
HP:0002123	Generalized myoclonic seizure	6389	SDHA	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	6390	SDHB	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	6392	SDHD	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	644096	SDHAF1	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	51294	PCDH12	OMIM:251280
HP:0002123	Generalized myoclonic seizure	2055	CLN8	ORPHA:1947
HP:0002123	Generalized myoclonic seizure	2581	GALC	ORPHA:206436
HP:0002123	Generalized myoclonic seizure	5660	PSAP	ORPHA:206436
HP:0002123	Generalized myoclonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002123	Generalized myoclonic seizure	8813	DPM1	ORPHA:79322
HP:0002123	Generalized myoclonic seizure	6513	SLC2A1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	8831	SYNGAP1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	1173	AP2M1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	6529	SLC6A1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	701	BUB1B	OMIM:257300
HP:0002123	Generalized myoclonic seizure	10243	GPHN	OMIM:615501
HP:0002123	Generalized myoclonic seizure	221927	BRAT1	OMIM:614498
HP:0002123	Generalized myoclonic seizure	22858	CILK1	OMIM:617924
HP:0002123	Generalized myoclonic seizure	2902	GRIN1	ORPHA:208447
HP:0002123	Generalized myoclonic seizure	1719	DHFR	OMIM:613839
HP:0032712	Focal impaired awareness motor seizure	781	CACNA2D1	OMIM:620149
HP:0032712	Focal impaired awareness motor seizure	10319	LAMC3	OMIM:614115
HP:0006870	Lobar holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0006870	Lobar holoprosencephaly	2260	FGFR1	OMIM:615465
HP:0006870	Lobar holoprosencephaly	2260	FGFR1	ORPHA:2117
HP:0006870	Lobar holoprosencephaly	84314	TMEM107	ORPHA:564
HP:0006870	Lobar holoprosencephaly	26123	TCTN3	ORPHA:564
HP:0006870	Lobar holoprosencephaly	79867	TCTN2	ORPHA:564
HP:0006870	Lobar holoprosencephaly	80776	B9D2	ORPHA:564
HP:0006870	Lobar holoprosencephaly	79600	TCTN1	ORPHA:564
HP:0006870	Lobar holoprosencephaly	57096	RPGRIP1	ORPHA:564
HP:0006870	Lobar holoprosencephaly	79848	CSPP1	ORPHA:564
HP:0006870	Lobar holoprosencephaly	80184	CEP290	ORPHA:564
HP:0006870	Lobar holoprosencephaly	51259	TMEM216	ORPHA:564
HP:0006870	Lobar holoprosencephaly	57545	CC2D2A	ORPHA:564
HP:0006870	Lobar holoprosencephaly	79583	TMEM231	ORPHA:564
HP:0006870	Lobar holoprosencephaly	91147	TMEM67	ORPHA:564
HP:0006870	Lobar holoprosencephaly	79770	TXNDC15	ORPHA:564
HP:0006870	Lobar holoprosencephaly	27077	B9D1	ORPHA:564
HP:0006870	Lobar holoprosencephaly	23322	RPGRIP1L	ORPHA:564
HP:0006870	Lobar holoprosencephaly	54903	MKS1	ORPHA:564
HP:0006870	Lobar holoprosencephaly	65062	TMEM237	ORPHA:564
HP:0006870	Lobar holoprosencephaly	5885	RAD21	OMIM:614701
HP:0006870	Lobar holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0006870	Lobar holoprosencephaly	25914	RTTN	ORPHA:468631
HP:0006870	Lobar holoprosencephaly	23019	CNOT1	OMIM:618500
HP:0010522	Dyslexia	25978	CHMP2B	ORPHA:100069
HP:0010522	Dyslexia	25978	CHMP2B	ORPHA:275864
HP:0010522	Dyslexia	5663	PSEN1	ORPHA:100069
HP:0010522	Dyslexia	5663	PSEN1	ORPHA:275864
HP:0010522	Dyslexia	2896	GRN	ORPHA:100069
HP:0010522	Dyslexia	2896	GRN	ORPHA:275864
HP:0010522	Dyslexia	54664	TMEM106B	ORPHA:100069
HP:0010522	Dyslexia	54664	TMEM106B	ORPHA:275864
HP:0010522	Dyslexia	4137	MAPT	ORPHA:100069
HP:0010522	Dyslexia	4137	MAPT	ORPHA:275864
HP:0010522	Dyslexia	54209	TREM2	ORPHA:100069
HP:0010522	Dyslexia	54209	TREM2	ORPHA:275864
HP:0010522	Dyslexia	8398	PLA2G6	ORPHA:199351
HP:0010522	Dyslexia	6513	SLC2A1	ORPHA:64280
HP:0010522	Dyslexia	2562	GABRB3	ORPHA:64280
HP:0010522	Dyslexia	2554	GABRA1	ORPHA:64280
HP:0010522	Dyslexia	8912	CACNA1H	ORPHA:64280
HP:0010522	Dyslexia	8629	JRK	ORPHA:64280
HP:0010522	Dyslexia	2566	GABRG2	ORPHA:64280
HP:0010522	Dyslexia	324	APC	ORPHA:261584
HP:0010522	Dyslexia	80207	OPA3	ORPHA:67036
HP:0010522	Dyslexia	123606	NIPA1	ORPHA:261183
HP:0010522	Dyslexia	7283	TUBG1	ORPHA:261183
HP:0010522	Dyslexia	81614	NIPA2	ORPHA:261183
HP:0010522	Dyslexia	6711	SPTBN1	OMIM:619475
HP:0010522	Dyslexia	1757	SARDH	ORPHA:3129
HP:0010522	Dyslexia	161582	DNAAF4	OMIM:127700
HP:0010522	Dyslexia	6938	TCF12	OMIM:619718
HP:0010522	Dyslexia	11284	PNKP	ORPHA:459033
HP:0010522	Dyslexia	55187	VPS13D	ORPHA:95434
HP:0010522	Dyslexia	27072	VPS41	ORPHA:95434
HP:0010522	Dyslexia	84978	FRMD5	OMIM:620094
HP:0010522	Dyslexia	6786	STIM1	OMIM:185070
HP:0010522	Dyslexia	8878	SQSTM1	ORPHA:275864
HP:0010522	Dyslexia	7415	VCP	ORPHA:275864
HP:0010522	Dyslexia	2729	GCLC	ORPHA:33574
HP:0010522	Dyslexia	4131	MAP1B	OMIM:618918
HP:0006872	Cerebral hypoplasia	114803	MYSM1	ORPHA:508542
HP:0006872	Cerebral hypoplasia	80347	COASY	OMIM:618266
HP:0006872	Cerebral hypoplasia	54903	MKS1	OMIM:249000
HP:0006872	Cerebral hypoplasia	476	ATP1A1	ORPHA:564178
HP:0006872	Cerebral hypoplasia	55733	HHAT	ORPHA:1422
HP:0006872	Cerebral hypoplasia	56270	WDR45B	OMIM:617977
HP:0006872	Cerebral hypoplasia	3295	HSD17B4	OMIM:261515
HP:0006872	Cerebral hypoplasia	26227	PHGDH	ORPHA:79351
HP:0006872	Cerebral hypoplasia	701	BUB1B	OMIM:257300
HP:0006872	Cerebral hypoplasia	9896	FIG4	OMIM:216340
HP:0006872	Cerebral hypoplasia	9896	FIG4	ORPHA:3472
HP:0006872	Cerebral hypoplasia	1717	DHCR7	OMIM:270400
HP:0006872	Cerebral hypoplasia	55777	MBD5	OMIM:156200
HP:0006872	Cerebral hypoplasia	55697	VAC14	ORPHA:3472
HP:0006872	Cerebral hypoplasia	2232	FDXR	ORPHA:543470
HP:0006872	Cerebral hypoplasia	23229	ARHGEF9	ORPHA:163985
HP:0006872	Cerebral hypoplasia	23229	ARHGEF9	OMIM:300607
HP:0006872	Cerebral hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0006872	Cerebral hypoplasia	673	BRAF	OMIM:115150
HP:0006872	Cerebral hypoplasia	25914	RTTN	ORPHA:468631
HP:0006872	Cerebral hypoplasia	8813	DPM1	ORPHA:79322
HP:0006872	Cerebral hypoplasia	55343	SLC35C1	ORPHA:99843
HP:0006872	Cerebral hypoplasia	9276	COPB2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	11113	CIT	ORPHA:2512
HP:0006872	Cerebral hypoplasia	9928	KIF14	ORPHA:2512
HP:0006872	Cerebral hypoplasia	22995	CEP152	ORPHA:2512
HP:0006872	Cerebral hypoplasia	284403	WDR62	ORPHA:2512
HP:0006872	Cerebral hypoplasia	55262	TRAPPC14	ORPHA:2512
HP:0006872	Cerebral hypoplasia	163786	SASS6	ORPHA:2512
HP:0006872	Cerebral hypoplasia	29920	PYCR2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	84879	MFSD2A	ORPHA:2512
HP:0006872	Cerebral hypoplasia	4176	MCM7	ORPHA:2512
HP:0006872	Cerebral hypoplasia	80254	CEP63	ORPHA:2512
HP:0006872	Cerebral hypoplasia	29081	METTL5	ORPHA:2512
HP:0006872	Cerebral hypoplasia	23310	NCAPD3	ORPHA:2512
HP:0006872	Cerebral hypoplasia	55755	CDK5RAP2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	79648	MCPH1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	6491	STIL	ORPHA:2512
HP:0006872	Cerebral hypoplasia	23141	ANKLE2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	259266	ASPM	ORPHA:2512
HP:0006872	Cerebral hypoplasia	7109	TRAPPC10	ORPHA:2512
HP:0006872	Cerebral hypoplasia	1911	PHC1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	6884	TAF13	ORPHA:2512
HP:0006872	Cerebral hypoplasia	9662	CEP135	ORPHA:2512
HP:0006872	Cerebral hypoplasia	55835	CENPJ	ORPHA:2512
HP:0006872	Cerebral hypoplasia	57082	KNL1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	1021	CDK6	ORPHA:2512
HP:0006872	Cerebral hypoplasia	2271	FH	OMIM:606812
HP:0006872	Cerebral hypoplasia	2639	GCDH	ORPHA:25
HP:0006872	Cerebral hypoplasia	79848	CSPP1	ORPHA:397715
HP:0006872	Cerebral hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0006872	Cerebral hypoplasia	54805	CNNM2	OMIM:616418
HP:0006872	Cerebral hypoplasia	26005	C2CD3	ORPHA:434179
HP:0006873	Symmetrical progressive peripheral demyelination	2639	GCDH	OMIM:231670
HP:0007313	Cerebral degeneration	2720	GLB1	OMIM:230500
HP:0007313	Cerebral degeneration	80025	PANK2	OMIM:234200
HP:0007020	Progressive spastic paraplegia	25782	RAB3GAP2	ORPHA:401830
HP:0007020	Progressive spastic paraplegia	6389	SDHA	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	80704	SLC19A3	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	91942	NDUFAF2	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	6834	SURF1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4723	NDUFV1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	55572	FOXRED1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4729	NDUFV2	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	55967	NDUFA12	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	51204	TACO1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4720	NDUFS2	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4724	NDUFS4	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4728	NDUFS8	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	137682	NDUFAF6	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4722	NDUFS3	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	79133	NDUFAF5	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	5160	PDHA1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	100131801	PET100	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	1355	COX15	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	1892	ECHS1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	123263	MTFMT	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	51079	NDUFA13	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	374291	NDUFS7	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4705	NDUFA10	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	51601	LIPT1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4719	NDUFS1	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4695	NDUFA2	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4697	NDUFA4	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	4704	NDUFA9	ORPHA:255241
HP:0007020	Progressive spastic paraplegia	85465	SELENOI	ORPHA:506353
HP:0007020	Progressive spastic paraplegia	10717	AP4B1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	9179	AP4M1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	11154	AP4S1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	23431	AP4E1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	547	KIF1A	ORPHA:101010
HP:0007020	Progressive spastic paraplegia	23769	FLRT1	ORPHA:320406
HP:0007020	Progressive spastic paraplegia	64837	KLC2	ORPHA:320406
HP:0007020	Progressive spastic paraplegia	9897	WASHC5	ORPHA:100989
HP:0007020	Progressive spastic paraplegia	8242	KDM5C	OMIM:300534
HP:0007020	Progressive spastic paraplegia	340075	ARSI	ORPHA:401815
HP:0007020	Progressive spastic paraplegia	9197	SLC33A1	ORPHA:171863
HP:0007020	Progressive spastic paraplegia	4141	MARS1	ORPHA:401835
HP:0007020	Progressive spastic paraplegia	339855	KY	ORPHA:496689
HP:0007020	Progressive spastic paraplegia	57498	KIDINS220	ORPHA:521390
HP:0007020	Progressive spastic paraplegia	10908	PNPLA6	OMIM:612020
HP:0007020	Progressive spastic paraplegia	22948	CCT5	ORPHA:139578
HP:0007020	Progressive spastic paraplegia	4508	MT-ATP6	ORPHA:320360
HP:0007020	Progressive spastic paraplegia	51663	ZFR	ORPHA:401840
HP:0007020	Progressive spastic paraplegia	6253	RTN2	ORPHA:100993
HP:0007020	Progressive spastic paraplegia	51271	UBAP1	ORPHA:100993
HP:0007020	Progressive spastic paraplegia	126129	CPT1C	ORPHA:444099
HP:0007020	Progressive spastic paraplegia	200205	IBA57	ORPHA:468661
HP:0007020	Progressive spastic paraplegia	57531	HACE1	ORPHA:464282
HP:0007020	Progressive spastic paraplegia	23400	ATP13A2	ORPHA:513436
HP:0007020	Progressive spastic paraplegia	5354	PLP1	ORPHA:280234
HP:0007020	Progressive spastic paraplegia	80055	PGAP1	ORPHA:401820
HP:0007020	Progressive spastic paraplegia	3839	KPNA3	ORPHA:171612
HP:0007020	Progressive spastic paraplegia	79152	FA2H	ORPHA:329308
HP:0007020	Progressive spastic paraplegia	9907	AP5Z1	ORPHA:306511
HP:0007020	Progressive spastic paraplegia	10667	FARS2	ORPHA:466722
HP:0002511	Alzheimer disease	348	APOE	OMIM:606889
HP:0002511	Alzheimer disease	348	APOE	OMIM:607822
HP:0002511	Alzheimer disease	348	APOE	OMIM:104310
HP:0002511	Alzheimer disease	5664	PSEN2	OMIM:606889
HP:0002511	Alzheimer disease	5663	PSEN1	OMIM:607822
HP:0002511	Alzheimer disease	4353	MPO	OMIM:104300
HP:0002511	Alzheimer disease	4846	NOS3	OMIM:104300
HP:0002511	Alzheimer disease	3077	HFE	OMIM:104300
HP:0002511	Alzheimer disease	351	APP	OMIM:104300
HP:0002511	Alzheimer disease	5328	PLAU	OMIM:104300
HP:0002511	Alzheimer disease	8913	CACNA1G	ORPHA:458803
HP:0002511	Alzheimer disease	2623	GATA1	OMIM:190685
HP:0002511	Alzheimer disease	10347	ABCA7	OMIM:608907
HP:0006879	Pontocerebellar atrophy	6095	RORA	OMIM:618060
HP:0006879	Pontocerebellar atrophy	1213	CLTC	OMIM:617854
HP:0006879	Pontocerebellar atrophy	79152	FA2H	ORPHA:171629
HP:0006879	Pontocerebellar atrophy	27183	VPS4A	OMIM:619273
HP:0006879	Pontocerebellar atrophy	8813	DPM1	OMIM:608799
HP:0006879	Pontocerebellar atrophy	8813	DPM1	ORPHA:79322
HP:0006879	Pontocerebellar atrophy	23064	SETX	OMIM:606002
HP:0006879	Pontocerebellar atrophy	440193	CCDC88C	OMIM:616053
HP:0006879	Pontocerebellar atrophy	440193	CCDC88C	ORPHA:423275
HP:0006879	Pontocerebellar atrophy	3908	LAMA2	ORPHA:258
HP:0032725	Focal impaired awareness clonic seizure	781	CACNA2D1	OMIM:620149
HP:0006882	Severe hydrocephalus	219844	HYLS1	OMIM:236680
HP:0002389	Cavum septum pellucidum	2615	LRRC32	OMIM:619074
HP:0002389	Cavum septum pellucidum	54941	RNF125	OMIM:616260
HP:0002389	Cavum septum pellucidum	64324	NSD1	OMIM:117550
HP:0002389	Cavum septum pellucidum	64324	NSD1	ORPHA:821
HP:0002389	Cavum septum pellucidum	4593	MUSK	OMIM:208150
HP:0002389	Cavum septum pellucidum	347733	TUBB2B	ORPHA:300573
HP:0002389	Cavum septum pellucidum	5528	PPP2R5D	ORPHA:457279
HP:0002389	Cavum septum pellucidum	8815	BANF1	OMIM:614008
HP:0002389	Cavum septum pellucidum	81857	MED25	ORPHA:464738
HP:0002389	Cavum septum pellucidum	81857	MED25	OMIM:616449
HP:0002389	Cavum septum pellucidum	3703	STT3A	OMIM:619714
HP:0002389	Cavum septum pellucidum	5048	PAFAH1B1	ORPHA:95232
HP:0002389	Cavum septum pellucidum	9939	RBM8A	OMIM:274000
HP:0002389	Cavum septum pellucidum	7080	NKX2-1	ORPHA:209905
HP:0002389	Cavum septum pellucidum	79087	ALG12	ORPHA:79324
HP:0002389	Cavum septum pellucidum	29072	SETD2	ORPHA:821
HP:0002389	Cavum septum pellucidum	10297	APC2	ORPHA:821
HP:0002389	Cavum septum pellucidum	7703	PCGF2	OMIM:618371
HP:0002389	Cavum septum pellucidum	129285	PPP1R21	OMIM:619383
HP:0002389	Cavum septum pellucidum	5290	PIK3CA	OMIM:602501
HP:0002389	Cavum septum pellucidum	55181	SMG8	OMIM:619268
HP:0002389	Cavum septum pellucidum	5594	MAPK1	OMIM:619087
HP:0002389	Cavum septum pellucidum	8550	MAPKAPK5	OMIM:619869
HP:0002389	Cavum septum pellucidum	55969	RAB5IF	OMIM:616994
HP:0002389	Cavum septum pellucidum	55690	PACS1	ORPHA:329224
HP:0002389	Cavum septum pellucidum	55690	PACS1	OMIM:615009
HP:0002389	Cavum septum pellucidum	4286	MITF	OMIM:617306
HP:0002389	Cavum septum pellucidum	53834	FGFRL1	OMIM:194190
HP:0002389	Cavum septum pellucidum	1487	CTBP1	OMIM:194190
HP:0002389	Cavum septum pellucidum	3954	LETM1	OMIM:194190
HP:0002389	Cavum septum pellucidum	7468	NSD2	OMIM:194190
HP:0002389	Cavum septum pellucidum	10815	CPLX1	OMIM:194190
HP:0002389	Cavum septum pellucidum	57688	ZSWIM6	OMIM:603671
HP:0006886	Impaired distal vibration sensation	54332	GDAP1	OMIM:607706
HP:0006886	Impaired distal vibration sensation	54332	GDAP1	ORPHA:99948
HP:0006886	Impaired distal vibration sensation	2643	GCH1	OMIM:128230
HP:0006886	Impaired distal vibration sensation	4099	MAG	OMIM:616680
HP:0006886	Impaired distal vibration sensation	126129	CPT1C	OMIM:616282
HP:0006886	Impaired distal vibration sensation	91574	MTRFR	OMIM:615035
HP:0006886	Impaired distal vibration sensation	182	JAG1	OMIM:619574
HP:0006886	Impaired distal vibration sensation	7415	VCP	ORPHA:435387
HP:0006886	Impaired distal vibration sensation	7415	VCP	OMIM:616687
HP:0006886	Impaired distal vibration sensation	22880	MORC2	OMIM:616688
HP:0006886	Impaired distal vibration sensation	7515	XRCC1	OMIM:617633
HP:0006886	Impaired distal vibration sensation	57863	CADM3	OMIM:619519
HP:0006886	Impaired distal vibration sensation	50717	DCAF8	OMIM:610100
HP:0006886	Impaired distal vibration sensation	5165	PDK3	OMIM:300905
HP:0006886	Impaired distal vibration sensation	50846	DHH	OMIM:607080
HP:0006886	Impaired distal vibration sensation	5428	POLG	OMIM:258450
HP:0006886	Impaired distal vibration sensation	5428	POLG	OMIM:157640
HP:0006886	Impaired distal vibration sensation	5428	POLG	OMIM:607459
HP:0006886	Impaired distal vibration sensation	3748	KCNC3	ORPHA:98768
HP:0006886	Impaired distal vibration sensation	3748	KCNC3	OMIM:605259
HP:0006886	Impaired distal vibration sensation	4747	NEFL	OMIM:607684
HP:0006886	Impaired distal vibration sensation	10397	NDRG1	OMIM:601455
HP:0006886	Impaired distal vibration sensation	56652	TWNK	OMIM:607459
HP:0006886	Impaired distal vibration sensation	3798	KIF5A	ORPHA:100991
HP:0006886	Impaired distal vibration sensation	2332	FMR1	OMIM:300623
HP:0006886	Impaired distal vibration sensation	476	ATP1A1	OMIM:618036
HP:0006886	Impaired distal vibration sensation	5375	PMP2	OMIM:618279
HP:0006886	Impaired distal vibration sensation	55703	POLR3B	OMIM:619742
HP:0006886	Impaired distal vibration sensation	8566	PDXK	OMIM:618511
HP:0006886	Impaired distal vibration sensation	5173	PDYN	ORPHA:101108
HP:0006886	Impaired distal vibration sensation	547	KIF1A	OMIM:614213
HP:0006886	Impaired distal vibration sensation	55526	DHTKD1	OMIM:615025
HP:0006886	Impaired distal vibration sensation	5192	PEX10	OMIM:614871
HP:0006886	Impaired distal vibration sensation	79628	SH3TC2	ORPHA:99949
HP:0006886	Impaired distal vibration sensation	54840	APTX	OMIM:208920
HP:0006886	Impaired distal vibration sensation	400916	CHCHD10	ORPHA:276435
HP:0006886	Impaired distal vibration sensation	90678	LRSAM1	OMIM:614436
HP:0006886	Impaired distal vibration sensation	11261	CHP1	OMIM:618438
HP:0006886	Impaired distal vibration sensation	23064	SETX	OMIM:606002
HP:0006886	Impaired distal vibration sensation	4359	MPZ	OMIM:145900
HP:0006886	Impaired distal vibration sensation	5376	PMP22	OMIM:145900
HP:0006886	Impaired distal vibration sensation	1959	EGR2	OMIM:145900
HP:0006886	Impaired distal vibration sensation	57716	PRX	OMIM:145900
HP:0006886	Impaired distal vibration sensation	4001	LMNB1	ORPHA:99027
HP:0006886	Impaired distal vibration sensation	80208	SPG11	OMIM:604360
HP:0006886	Impaired distal vibration sensation	3752	KCND3	ORPHA:98772
HP:0006886	Impaired distal vibration sensation	5832	ALDH18A1	ORPHA:447760
HP:0006886	Impaired distal vibration sensation	2583	B4GALNT1	ORPHA:101006
HP:0006886	Impaired distal vibration sensation	23111	SPART	OMIM:275900
HP:0006886	Impaired distal vibration sensation	215	ABCD1	OMIM:300100
HP:0006886	Impaired distal vibration sensation	51308	REEP2	ORPHA:401849
HP:0006886	Impaired distal vibration sensation	7504	XK	OMIM:300842
HP:0006886	Impaired distal vibration sensation	8913	CACNA1G	ORPHA:458803
HP:0006886	Impaired distal vibration sensation	8913	CACNA1G	OMIM:616795
HP:0006886	Impaired distal vibration sensation	7345	UCHL1	OMIM:615491
HP:0006886	Impaired distal vibration sensation	6683	SPAST	ORPHA:100985
HP:0006886	Impaired distal vibration sensation	271	AMPD2	OMIM:615686
HP:0006886	Impaired distal vibration sensation	57704	GBA2	ORPHA:320391
HP:0006886	Impaired distal vibration sensation	5582	PRKCG	OMIM:605361
HP:0006887	Intellectual disability, progressive	51	ACOX1	OMIM:264470
HP:0006887	Intellectual disability, progressive	4204	MECP2	OMIM:300673
HP:0006887	Intellectual disability, progressive	9342	SNAP29	OMIM:609528
HP:0006887	Intellectual disability, progressive	9131	AIFM1	OMIM:300232
HP:0006887	Intellectual disability, progressive	5805	PTS	OMIM:261640
HP:0006887	Intellectual disability, progressive	3756	KCNH1	OMIM:135500
HP:0006887	Intellectual disability, progressive	145173	B3GLCT	OMIM:261540
HP:0006887	Intellectual disability, progressive	546	ATRX	OMIM:309580
HP:0006887	Intellectual disability, progressive	124997	WDR81	OMIM:610185
HP:0006887	Intellectual disability, progressive	23522	KAT6B	OMIM:606170
HP:0006887	Intellectual disability, progressive	7084	TK2	OMIM:609560
HP:0006887	Intellectual disability, progressive	2643	GCH1	OMIM:233910
HP:0006887	Intellectual disability, progressive	1509	CTSD	OMIM:610127
HP:0006887	Intellectual disability, progressive	4693	NDP	OMIM:310600
HP:0006887	Intellectual disability, progressive	4693	NDP	ORPHA:649
HP:0006887	Intellectual disability, progressive	6638	SNRPN	OMIM:105830
HP:0006887	Intellectual disability, progressive	7337	UBE3A	OMIM:105830
HP:0006887	Intellectual disability, progressive	4796	TONSL	OMIM:271510
HP:0006887	Intellectual disability, progressive	55343	SLC35C1	OMIM:266265
HP:0006887	Intellectual disability, progressive	4552	MTRR	OMIM:236270
HP:0006887	Intellectual disability, progressive	10479	SLC9A6	OMIM:300243
HP:0006887	Intellectual disability, progressive	6567	SLC16A2	OMIM:300523
HP:0006887	Intellectual disability, progressive	170302	ARX	OMIM:300004
HP:0006887	Intellectual disability, progressive	8803	SUCLA2	OMIM:612073
HP:0006887	Intellectual disability, progressive	8803	SUCLA2	ORPHA:1933
HP:0006887	Intellectual disability, progressive	1482	NKX2-5	OMIM:225250
HP:0006887	Intellectual disability, progressive	25782	RAB3GAP2	OMIM:212720
HP:0006887	Intellectual disability, progressive	54820	NDE1	OMIM:605013
HP:0006887	Intellectual disability, progressive	6925	TCF4	OMIM:610954
HP:0006887	Intellectual disability, progressive	1760	DMPK	OMIM:160900
HP:0006887	Intellectual disability, progressive	7252	TSHB	OMIM:275100
HP:0006887	Intellectual disability, progressive	5189	PEX1	OMIM:214100
HP:0006887	Intellectual disability, progressive	9179	AP4M1	OMIM:612936
HP:0006887	Intellectual disability, progressive	2068	ERCC2	ORPHA:910
HP:0006887	Intellectual disability, progressive	7507	XPA	ORPHA:910
HP:0006887	Intellectual disability, progressive	2071	ERCC3	ORPHA:910
HP:0006887	Intellectual disability, progressive	7508	XPC	ORPHA:910
HP:0006887	Intellectual disability, progressive	1643	DDB2	ORPHA:910
HP:0006887	Intellectual disability, progressive	2072	ERCC4	ORPHA:910
HP:0006887	Intellectual disability, progressive	2073	ERCC5	ORPHA:910
HP:0006887	Intellectual disability, progressive	79944	L2HGDH	ORPHA:79314
HP:0006888	Meningoencephalocele	29954	POMT2	OMIM:236670
HP:0006888	Meningoencephalocele	9215	LARGE1	OMIM:236670
HP:0006888	Meningoencephalocele	79147	FKRP	OMIM:236670
HP:0006888	Meningoencephalocele	10585	POMT1	OMIM:236670
HP:0006888	Meningoencephalocele	2218	FKTN	OMIM:236670
HP:0006889	Intellectual disability, borderline	242	ALOX12B	OMIM:242100
HP:0006889	Intellectual disability, borderline	59344	ALOXE3	OMIM:242100
HP:0006889	Intellectual disability, borderline	26160	IFT172	OMIM:619471
HP:0006889	Intellectual disability, borderline	6638	SNRPN	ORPHA:177904
HP:0006889	Intellectual disability, borderline	6638	SNRPN	ORPHA:177901
HP:0006889	Intellectual disability, borderline	6638	SNRPN	ORPHA:98754
HP:0006889	Intellectual disability, borderline	4692	NDN	ORPHA:177904
HP:0006889	Intellectual disability, borderline	4692	NDN	ORPHA:177901
HP:0006889	Intellectual disability, borderline	4692	NDN	ORPHA:98754
HP:0006889	Intellectual disability, borderline	54551	MAGEL2	ORPHA:177904
HP:0006889	Intellectual disability, borderline	54551	MAGEL2	ORPHA:177901
HP:0006889	Intellectual disability, borderline	54551	MAGEL2	ORPHA:398069
HP:0006889	Intellectual disability, borderline	54551	MAGEL2	ORPHA:98754
HP:0006889	Intellectual disability, borderline	4948	OCA2	ORPHA:177904
HP:0006889	Intellectual disability, borderline	4948	OCA2	ORPHA:177901
HP:0006889	Intellectual disability, borderline	4948	OCA2	ORPHA:98754
HP:0006889	Intellectual disability, borderline	953	ENTPD1	ORPHA:401810
HP:0006889	Intellectual disability, borderline	6334	SCN8A	OMIM:614306
HP:0006889	Intellectual disability, borderline	6328	SCN3A	OMIM:617935
HP:0006889	Intellectual disability, borderline	10815	CPLX1	ORPHA:352582
HP:0006889	Intellectual disability, borderline	57465	TBC1D24	ORPHA:352582
HP:0006889	Intellectual disability, borderline	27286	SRPX2	ORPHA:1945
HP:0006889	Intellectual disability, borderline	2903	GRIN2A	ORPHA:1945
HP:0006889	Intellectual disability, borderline	2566	GABRG2	ORPHA:1945
HP:0006889	Intellectual disability, borderline	4796	TONSL	ORPHA:93357
HP:0006889	Intellectual disability, borderline	84197	POMK	OMIM:616094
HP:0006889	Intellectual disability, borderline	60684	TRAPPC11	ORPHA:369840
HP:0006889	Intellectual disability, borderline	7204	TRIO	ORPHA:476126
HP:0006889	Intellectual disability, borderline	10157	AASS	ORPHA:2203
HP:0006889	Intellectual disability, borderline	4893	NRAS	OMIM:613224
HP:0006889	Intellectual disability, borderline	55249	YY1AP1	ORPHA:79094
HP:0006889	Intellectual disability, borderline	318	NUDT2	OMIM:619844
HP:0006889	Intellectual disability, borderline	5010	CLDN11	OMIM:619328
HP:0006889	Intellectual disability, borderline	3778	KCNMA1	ORPHA:79137
HP:0012300	Ureteral agenesis	23426	GRIP1	OMIM:617667
HP:0012300	Ureteral agenesis	341640	FREM2	OMIM:617666
HP:0012300	Ureteral agenesis	9928	KIF14	OMIM:617914
HP:0012300	Ureteral agenesis	55165	CEP55	OMIM:236500
HP:0012301	Type II transferrin isoform profile	10159	ATP6AP2	OMIM:301045
HP:0012301	Type II transferrin isoform profile	25839	COG4	ORPHA:263501
HP:0012301	Type II transferrin isoform profile	25839	COG4	OMIM:613489
HP:0012301	Type II transferrin isoform profile	91949	COG7	OMIM:608779
HP:0012301	Type II transferrin isoform profile	91949	COG7	ORPHA:79333
HP:0012301	Type II transferrin isoform profile	11253	MAN1B1	ORPHA:397941
HP:0012301	Type II transferrin isoform profile	84342	COG8	OMIM:611182
HP:0012301	Type II transferrin isoform profile	537	ATP6AP1	OMIM:300972
HP:0012301	Type II transferrin isoform profile	57511	COG6	OMIM:614576
HP:0012301	Type II transferrin isoform profile	2542	SLC37A4	OMIM:619525
HP:0012301	Type II transferrin isoform profile	10466	COG5	OMIM:613612
HP:0012301	Type II transferrin isoform profile	819	CAMLG	OMIM:620201
HP:0012301	Type II transferrin isoform profile	64116	SLC39A8	ORPHA:468699
HP:0012301	Type II transferrin isoform profile	4247	MGAT2	OMIM:212066
HP:0012301	Type II transferrin isoform profile	2683	B4GALT1	ORPHA:79332
HP:0012301	Type II transferrin isoform profile	51608	GET4	OMIM:620200
HP:0012301	Type II transferrin isoform profile	9382	COG1	OMIM:611209
HP:0012301	Type II transferrin isoform profile	9382	COG1	ORPHA:263508
HP:0012302	Herpes simplex encephalitis	7098	TLR3	OMIM:613002
HP:0012302	Herpes simplex encephalitis	10525	HYOU1	OMIM:233600
HP:0012302	Herpes simplex encephalitis	6772	STAT1	OMIM:613796
HP:0012302	Herpes simplex encephalitis	6772	STAT1	OMIM:614892
HP:0012302	Herpes simplex encephalitis	3661	IRF3	OMIM:616532
HP:0012302	Herpes simplex encephalitis	148022	TICAM1	OMIM:614850
HP:0012302	Herpes simplex encephalitis	81622	UNC93B1	OMIM:610551
HP:0012302	Herpes simplex encephalitis	29110	TBK1	OMIM:617900
HP:0012302	Herpes simplex encephalitis	3071	NCKAP1L	OMIM:618982
HP:0012302	Herpes simplex encephalitis	7187	TRAF3	OMIM:614849
HP:0012302	Herpes simplex encephalitis	677814	SNORA31	OMIM:619396
HP:0012303	Abnormal aortic arch morphology	78987	CRELD1	OMIM:606217
HP:0012303	Abnormal aortic arch morphology	64220	STRA6	OMIM:601186
HP:0012303	Abnormal aortic arch morphology	2737	GLI3	OMIM:146510
HP:0012303	Abnormal aortic arch morphology	5745	PTH1R	OMIM:215045
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	OMIM:180849
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	ORPHA:353277
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	ORPHA:353281
HP:0012303	Abnormal aortic arch morphology	2033	EP300	OMIM:180849
HP:0012303	Abnormal aortic arch morphology	2033	EP300	ORPHA:353284
HP:0012303	Abnormal aortic arch morphology	5296	PIK3R2	OMIM:603387
HP:0012303	Abnormal aortic arch morphology	9894	TELO2	OMIM:616954
HP:0012303	Abnormal aortic arch morphology	10526	IPO8	OMIM:619472
HP:0012303	Abnormal aortic arch morphology	2629	GBA1	OMIM:230900
HP:0012303	Abnormal aortic arch morphology	2324	FLT4	OMIM:618780
HP:0012303	Abnormal aortic arch morphology	5337	PLD1	OMIM:212093
HP:0012303	Abnormal aortic arch morphology	2627	GATA6	OMIM:600001
HP:0012303	Abnormal aortic arch morphology	2627	GATA6	ORPHA:2255
HP:0012303	Abnormal aortic arch morphology	745	MYRF	OMIM:618280
HP:0012303	Abnormal aortic arch morphology	129563	DIS3L2	OMIM:267000
HP:0012303	Abnormal aortic arch morphology	2294	FOXF1	OMIM:265380
HP:0012303	Abnormal aortic arch morphology	6899	TBX1	OMIM:188400
HP:0012303	Abnormal aortic arch morphology	6899	TBX1	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	6899	TBX1	ORPHA:1727
HP:0012303	Abnormal aortic arch morphology	4613	MYCN	ORPHA:391641
HP:0012303	Abnormal aortic arch morphology	4613	MYCN	OMIM:164280
HP:0012303	Abnormal aortic arch morphology	137814	NKX2-6	ORPHA:3384
HP:0012303	Abnormal aortic arch morphology	23129	PLXND1	ORPHA:3384
HP:0012303	Abnormal aortic arch morphology	8802	SUCLG1	ORPHA:17
HP:0012303	Abnormal aortic arch morphology	56006	SMG9	OMIM:616920
HP:0012303	Abnormal aortic arch morphology	54916	TMEM260	OMIM:617478
HP:0012303	Abnormal aortic arch morphology	2260	FGFR1	ORPHA:2396
HP:0012303	Abnormal aortic arch morphology	3845	KRAS	ORPHA:2396
HP:0012303	Abnormal aortic arch morphology	9993	DGCR2	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	8220	ESS2	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	8214	DGCR6	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	54487	DGCR8	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	118856	MMP21	OMIM:616749
HP:0012303	Abnormal aortic arch morphology	55636	CHD7	ORPHA:138
HP:0012303	Abnormal aortic arch morphology	9723	SEMA3E	ORPHA:138
HP:0012303	Abnormal aortic arch morphology	7490	WT1	OMIM:608978
HP:0012303	Abnormal aortic arch morphology	80232	WDR26	ORPHA:513456
HP:0012303	Abnormal aortic arch morphology	80232	WDR26	OMIM:617616
HP:0012303	Abnormal aortic arch morphology	1770	DNAH9	OMIM:618300
HP:0012303	Abnormal aortic arch morphology	79989	IFT56	OMIM:619534
HP:0012303	Abnormal aortic arch morphology	168507	PKD1L1	OMIM:617205
HP:0012303	Abnormal aortic arch morphology	25981	DNAH1	OMIM:617577
HP:0012303	Abnormal aortic arch morphology	93	ACVR2B	OMIM:613751
HP:0012303	Abnormal aortic arch morphology	220136	CFAP53	OMIM:614779
HP:0012303	Abnormal aortic arch morphology	2657	GDF1	OMIM:613854
HP:0012303	Abnormal aortic arch morphology	10992	SF3B2	OMIM:164210
HP:0012303	Abnormal aortic arch morphology	23556	PIGN	ORPHA:2059
HP:0012303	Abnormal aortic arch morphology	55784	MCTP2	ORPHA:1596
HP:0012303	Abnormal aortic arch morphology	388015	RTL1	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	8788	DLK1	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	55384	MEG3	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	1312	COMT	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	221037	JMJD1C	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	2812	GP1BB	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	6239	RREB1	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7290	HIRA	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	9632	SEC24C	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7353	UFD1	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	421	ARVCF	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7547	ZIC3	OMIM:306955
HP:0012303	Abnormal aortic arch morphology	22827	PUF60	ORPHA:508488
HP:0012303	Abnormal aortic arch morphology	54880	BCOR	OMIM:300166
HP:0012303	Abnormal aortic arch morphology	6885	MAP3K7	OMIM:157800
HP:0012303	Abnormal aortic arch morphology	2697	GJA1	ORPHA:2248
HP:0012303	Abnormal aortic arch morphology	1482	NKX2-5	ORPHA:2248
HP:0012303	Abnormal aortic arch morphology	5500	PPP1CB	OMIM:617506
HP:0012303	Abnormal aortic arch morphology	2783	GNB2	OMIM:619503
HP:0012303	Abnormal aortic arch morphology	100128908	CIROP	OMIM:619702
HP:0012303	Abnormal aortic arch morphology	5518	PPP2R1A	ORPHA:457284
HP:0012303	Abnormal aortic arch morphology	10195	ALG3	ORPHA:79321
HP:0012304	Hypoplastic aortic arch	7547	ZIC3	OMIM:306955
HP:0012304	Hypoplastic aortic arch	22827	PUF60	ORPHA:508488
HP:0012304	Hypoplastic aortic arch	2294	FOXF1	OMIM:265380
HP:0012304	Hypoplastic aortic arch	54880	BCOR	OMIM:300166
HP:0012304	Hypoplastic aortic arch	6885	MAP3K7	OMIM:157800
HP:0012304	Hypoplastic aortic arch	2697	GJA1	ORPHA:2248
HP:0012304	Hypoplastic aortic arch	1482	NKX2-5	ORPHA:2248
HP:0012304	Hypoplastic aortic arch	5500	PPP1CB	OMIM:617506
HP:0012304	Hypoplastic aortic arch	2783	GNB2	OMIM:619503
HP:0012304	Hypoplastic aortic arch	100128908	CIROP	OMIM:619702
HP:0012304	Hypoplastic aortic arch	5518	PPP2R1A	ORPHA:457284
HP:0012304	Hypoplastic aortic arch	1387	CREBBP	OMIM:180849
HP:0012304	Hypoplastic aortic arch	2033	EP300	OMIM:180849
HP:0012305	Coarctation of the descending aortic arch	2737	GLI3	OMIM:146510
HP:0012305	Coarctation of the descending aortic arch	5745	PTH1R	OMIM:215045
HP:0012305	Coarctation of the descending aortic arch	10195	ALG3	ORPHA:79321
HP:0012306	Abnormal rib ossification	51119	SBDS	OMIM:260400
HP:0012306	Abnormal rib ossification	134218	DNAJC21	OMIM:260400
HP:0012306	Abnormal rib ossification	6729	SRP54	OMIM:260400
HP:0012306	Abnormal rib ossification	168667	BMPER	OMIM:608022
HP:0012306	Abnormal rib ossification	10682	EBP	ORPHA:35173
HP:0012306	Abnormal rib ossification	3930	LBR	OMIM:215140
HP:0012306	Abnormal rib ossification	3930	LBR	ORPHA:1426
HP:0012306	Abnormal rib ossification	1300	COL10A1	ORPHA:174
HP:0012306	Abnormal rib ossification	1836	SLC26A2	OMIM:222600
HP:0012306	Abnormal rib ossification	4256	MGP	OMIM:245150
HP:0012307	Spatulate ribs	1311	COMP	OMIM:177170
HP:0012307	Spatulate ribs	153642	ARSK	OMIM:619698
HP:0012307	Spatulate ribs	2720	GLB1	ORPHA:79255
HP:0012308	Decreased circulating complement C9 concentration	735	C9	OMIM:613825
HP:0012309	Cutaneous amyloidosis	5422	POLA1	OMIM:301220
HP:0012309	Cutaneous amyloidosis	133396	IL31RA	OMIM:613955
HP:0012309	Cutaneous amyloidosis	567	B2M	ORPHA:314652
HP:0012309	Cutaneous amyloidosis	5979	RET	OMIM:171400
HP:0012309	Cutaneous amyloidosis	22861	NLRP1	OMIM:615225
HP:0032740	Focal aware autonomic seizure	51083	GAL	OMIM:616461
HP:0006891	Thick cerebral cortex	23545	ATP6V0A2	ORPHA:2834
HP:0006891	Thick cerebral cortex	23545	ATP6V0A2	ORPHA:357074
HP:0006891	Thick cerebral cortex	10297	APC2	OMIM:618677
HP:0006891	Thick cerebral cortex	10815	CPLX1	ORPHA:352582
HP:0006891	Thick cerebral cortex	57465	TBC1D24	ORPHA:352582
HP:0006891	Thick cerebral cortex	5048	PAFAH1B1	ORPHA:95232
HP:0006891	Thick cerebral cortex	523	ATP6V1A	ORPHA:357074
HP:0006891	Thick cerebral cortex	529	ATP6V1E1	ORPHA:357074
HP:0006891	Thick cerebral cortex	5649	RELN	OMIM:257320
HP:0006891	Thick cerebral cortex	123606	NIPA1	ORPHA:261183
HP:0006891	Thick cerebral cortex	7283	TUBG1	ORPHA:261183
HP:0006891	Thick cerebral cortex	81614	NIPA2	ORPHA:261183
HP:0006892	Frontotemporal cerebral atrophy	25839	COG4	ORPHA:263501
HP:0006892	Frontotemporal cerebral atrophy	25839	COG4	OMIM:613489
HP:0006892	Frontotemporal cerebral atrophy	8398	PLA2G6	ORPHA:199351
HP:0006892	Frontotemporal cerebral atrophy	8398	PLA2G6	OMIM:612953
HP:0006892	Frontotemporal cerebral atrophy	51324	SPG21	ORPHA:101001
HP:0006892	Frontotemporal cerebral atrophy	79989	IFT56	OMIM:619534
HP:0006892	Frontotemporal cerebral atrophy	5575	PRKAR1B	ORPHA:412066
HP:0006892	Frontotemporal cerebral atrophy	478	ATP1A3	OMIM:619606
HP:0006892	Frontotemporal cerebral atrophy	25978	CHMP2B	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	25978	CHMP2B	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	5663	PSEN1	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	5663	PSEN1	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	2896	GRN	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	2896	GRN	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	54664	TMEM106B	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	54664	TMEM106B	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	8878	SQSTM1	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	4137	MAPT	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	4137	MAPT	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	54209	TREM2	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	54209	TREM2	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	7415	VCP	ORPHA:275864
HP:0006892	Frontotemporal cerebral atrophy	7415	VCP	ORPHA:100070
HP:0006892	Frontotemporal cerebral atrophy	2558	GABRA5	OMIM:618559
HP:0006892	Frontotemporal cerebral atrophy	3028	HSD17B10	ORPHA:391428
HP:0007033	Cerebellar dysplasia	29899	GPSM2	OMIM:604213
HP:0007033	Cerebellar dysplasia	29954	POMT2	OMIM:613150
HP:0007033	Cerebellar dysplasia	29954	POMT2	OMIM:236670
HP:0007033	Cerebellar dysplasia	5879	RAC1	OMIM:617751
HP:0007033	Cerebellar dysplasia	5879	RAC1	ORPHA:500159
HP:0007033	Cerebellar dysplasia	10367	MICU1	OMIM:615673
HP:0007033	Cerebellar dysplasia	79147	FKRP	OMIM:613153
HP:0007033	Cerebellar dysplasia	79147	FKRP	OMIM:236670
HP:0007033	Cerebellar dysplasia	10585	POMT1	OMIM:613155
HP:0007033	Cerebellar dysplasia	10585	POMT1	OMIM:236670
HP:0007033	Cerebellar dysplasia	998	CDC42	ORPHA:487796
HP:0007033	Cerebellar dysplasia	55624	POMGNT1	OMIM:253280
HP:0007033	Cerebellar dysplasia	9289	ADGRG1	ORPHA:98889
HP:0007033	Cerebellar dysplasia	9289	ADGRG1	ORPHA:101070
HP:0007033	Cerebellar dysplasia	5297	PI4KA	ORPHA:98889
HP:0007033	Cerebellar dysplasia	5297	PI4KA	OMIM:616531
HP:0007033	Cerebellar dysplasia	27286	SRPX2	ORPHA:98889
HP:0007033	Cerebellar dysplasia	5728	PTEN	ORPHA:101070
HP:0007033	Cerebellar dysplasia	9786	KIAA0586	OMIM:616490
HP:0007033	Cerebellar dysplasia	148789	B3GALNT2	OMIM:615181
HP:0007033	Cerebellar dysplasia	10329	RXYLT1	OMIM:615041
HP:0007033	Cerebellar dysplasia	84162	BLTP1	OMIM:617822
HP:0007033	Cerebellar dysplasia	284217	LAMA1	OMIM:615960
HP:0007033	Cerebellar dysplasia	284217	LAMA1	ORPHA:370022
HP:0007033	Cerebellar dysplasia	57187	THOC2	ORPHA:457240
HP:0007033	Cerebellar dysplasia	9215	LARGE1	OMIM:236670
HP:0007033	Cerebellar dysplasia	2218	FKTN	OMIM:236670
HP:0007033	Cerebellar dysplasia	9382	COG1	ORPHA:263508
HP:0007033	Cerebellar dysplasia	3417	IDH1	ORPHA:99646
HP:0007033	Cerebellar dysplasia	80210	ARMC9	OMIM:617622
HP:0006894	Hypoplastic olfactory lobes	5189	PEX1	OMIM:214100
HP:0006895	Lower limb hypertonia	87178	PNPT1	ORPHA:319514
HP:0006895	Lower limb hypertonia	51062	ATL1	ORPHA:100984
HP:0006895	Lower limb hypertonia	8242	KDM5C	OMIM:300534
HP:0006895	Lower limb hypertonia	57498	KIDINS220	OMIM:617296
HP:0006895	Lower limb hypertonia	9197	SLC33A1	ORPHA:171863
HP:0006895	Lower limb hypertonia	56006	SMG9	OMIM:619995
HP:0006895	Lower limb hypertonia	23516	SLC39A14	OMIM:617013
HP:0006895	Lower limb hypertonia	546	ATRX	OMIM:309580
HP:0006895	Lower limb hypertonia	55149	MTPAP	OMIM:613672
HP:0006895	Lower limb hypertonia	55149	MTPAP	ORPHA:254343
HP:0006895	Lower limb hypertonia	6389	SDHA	ORPHA:3208
HP:0006895	Lower limb hypertonia	6390	SDHB	ORPHA:3208
HP:0006895	Lower limb hypertonia	6392	SDHD	ORPHA:3208
HP:0006895	Lower limb hypertonia	644096	SDHAF1	ORPHA:3208
HP:0006895	Lower limb hypertonia	7994	KAT6A	OMIM:616268
HP:0006895	Lower limb hypertonia	54834	GDAP2	OMIM:618369
HP:0006895	Lower limb hypertonia	3930	LBR	OMIM:169400
HP:0006895	Lower limb hypertonia	10939	AFG3L2	OMIM:610246
HP:0006895	Lower limb hypertonia	23028	KDM1A	OMIM:616728
HP:0006895	Lower limb hypertonia	23028	KDM1A	ORPHA:477993
HP:0006895	Lower limb hypertonia	84188	FAR1	ORPHA:447753
HP:0006895	Lower limb hypertonia	5832	ALDH18A1	ORPHA:447753
HP:0006895	Lower limb hypertonia	6687	SPG7	ORPHA:99013
HP:0006895	Lower limb hypertonia	6687	SPG7	OMIM:607259
HP:0006895	Lower limb hypertonia	171023	ASXL1	ORPHA:97297
HP:0006895	Lower limb hypertonia	100147744	RNU7-1	OMIM:619487
HP:0006895	Lower limb hypertonia	5917	RARS1	ORPHA:438114
HP:0006895	Lower limb hypertonia	283989	TSEN54	ORPHA:2524
HP:0006895	Lower limb hypertonia	116461	TSEN15	ORPHA:2524
HP:0006895	Lower limb hypertonia	79042	TSEN34	ORPHA:2524
HP:0006895	Lower limb hypertonia	80746	TSEN2	ORPHA:2524
HP:0006895	Lower limb hypertonia	51091	SEPSECS	ORPHA:2524
HP:0006895	Lower limb hypertonia	79152	FA2H	ORPHA:171629
HP:0006895	Lower limb hypertonia	4552	MTRR	ORPHA:2169
HP:0006895	Lower limb hypertonia	5010	CLDN11	OMIM:619328
HP:0006895	Lower limb hypertonia	137492	VPS37A	OMIM:614898
HP:0006895	Lower limb hypertonia	3798	KIF5A	OMIM:604187
HP:0006895	Lower limb hypertonia	5277	PIGA	OMIM:301072
HP:0006895	Lower limb hypertonia	55343	SLC35C1	ORPHA:99843
HP:0006896	Hypnopompic hallucinations	3060	HCRT	OMIM:161400
HP:0006897	Abducens palsy	80232	WDR26	ORPHA:513456
HP:0006897	Abducens palsy	23102	TBC1D2B	ORPHA:397973
HP:0006897	Abducens palsy	128240	NAXE	OMIM:617186
HP:0006897	Abducens palsy	64072	CDH23	ORPHA:91347
HP:0006897	Abducens palsy	64072	CDH23	ORPHA:2965
HP:0006897	Abducens palsy	59341	TRPV4	OMIM:606071
HP:0006897	Abducens palsy	59341	TRPV4	OMIM:181405
HP:0006897	Abducens palsy	4221	MEN1	ORPHA:2965
HP:0006897	Abducens palsy	9049	AIP	ORPHA:2965
HP:0006897	Abducens palsy	91147	TMEM67	ORPHA:140976
HP:0006897	Abducens palsy	51244	CCDC174	OMIM:616816
HP:0006897	Abducens palsy	389827	MYMK	OMIM:254940
HP:0006897	Abducens palsy	5660	PSAP	OMIM:610539
HP:0006899	Fusion of the cerebellar hemispheres	29925	GMPPB	ORPHA:370959
HP:0006899	Fusion of the cerebellar hemispheres	79147	FKRP	ORPHA:370959
HP:0006899	Fusion of the cerebellar hemispheres	29954	POMT2	ORPHA:370959
HP:0006899	Fusion of the cerebellar hemispheres	84197	POMK	ORPHA:370959
HP:0006899	Fusion of the cerebellar hemispheres	55624	POMGNT1	ORPHA:370959
HP:0006899	Fusion of the cerebellar hemispheres	10585	POMT1	ORPHA:370959
HP:0012310	Abnormal monocyte count	10312	TCIRG1	ORPHA:486
HP:0012310	Abnormal monocyte count	1991	ELANE	ORPHA:486
HP:0012310	Abnormal monocyte count	1991	ELANE	OMIM:202700
HP:0012310	Abnormal monocyte count	2672	GFI1	ORPHA:486
HP:0012310	Abnormal monocyte count	2672	GFI1	OMIM:613107
HP:0012310	Abnormal monocyte count	6729	SRP54	ORPHA:486
HP:0012310	Abnormal monocyte count	81570	CLPB	ORPHA:486
HP:0012310	Abnormal monocyte count	5293	PIK3CD	OMIM:619281
HP:0012310	Abnormal monocyte count	92579	G6PC3	OMIM:612541
HP:0012310	Abnormal monocyte count	3551	IKBKB	OMIM:615592
HP:0012310	Abnormal monocyte count	3845	KRAS	OMIM:614470
HP:0012310	Abnormal monocyte count	4893	NRAS	OMIM:614470
HP:0012310	Abnormal monocyte count	57169	ZNFX1	OMIM:619644
HP:0012310	Abnormal monocyte count	51428	DDX41	OMIM:616871
HP:0012310	Abnormal monocyte count	5880	RAC2	OMIM:618986
HP:0012310	Abnormal monocyte count	7454	WAS	OMIM:300299
HP:0012310	Abnormal monocyte count	7454	WAS	ORPHA:86788
HP:0012310	Abnormal monocyte count	84433	CARD11	OMIM:615206
HP:0012310	Abnormal monocyte count	5294	PIK3CG	OMIM:619802
HP:0012310	Abnormal monocyte count	2624	GATA2	OMIM:614172
HP:0012310	Abnormal monocyte count	3394	IRF8	OMIM:226990
HP:0012311	Monocytosis	10312	TCIRG1	ORPHA:486
HP:0012311	Monocytosis	1991	ELANE	ORPHA:486
HP:0012311	Monocytosis	1991	ELANE	OMIM:202700
HP:0012311	Monocytosis	2672	GFI1	ORPHA:486
HP:0012311	Monocytosis	2672	GFI1	OMIM:613107
HP:0012311	Monocytosis	6729	SRP54	ORPHA:486
HP:0012311	Monocytosis	81570	CLPB	ORPHA:486
HP:0012311	Monocytosis	5293	PIK3CD	OMIM:619281
HP:0012311	Monocytosis	92579	G6PC3	OMIM:612541
HP:0012311	Monocytosis	3551	IKBKB	OMIM:615592
HP:0012311	Monocytosis	3845	KRAS	OMIM:614470
HP:0012311	Monocytosis	4893	NRAS	OMIM:614470
HP:0012311	Monocytosis	57169	ZNFX1	OMIM:619644
HP:0012311	Monocytosis	51428	DDX41	OMIM:616871
HP:0012312	Monocytopenia	5880	RAC2	OMIM:618986
HP:0012312	Monocytopenia	7454	WAS	OMIM:300299
HP:0012312	Monocytopenia	7454	WAS	ORPHA:86788
HP:0012312	Monocytopenia	84433	CARD11	OMIM:615206
HP:0012312	Monocytopenia	5294	PIK3CG	OMIM:619802
HP:0012312	Monocytopenia	2624	GATA2	OMIM:614172
HP:0012312	Monocytopenia	3394	IRF8	OMIM:226990
HP:0012313	Heberden's node	4148	MATN3	OMIM:140600
HP:0012313	Heberden's node	1280	COL2A1	OMIM:604864
HP:0012315	Histiocytoma	1385	CREB1	OMIM:612160
HP:0012315	Histiocytoma	4507	MTAP	OMIM:112250
HP:0012316	Fibrous tissue neoplasm	6654	SOS1	OMIM:135300
HP:0012316	Fibrous tissue neoplasm	6654	SOS1	ORPHA:2024
HP:0012316	Fibrous tissue neoplasm	1718	DHCR24	OMIM:602398
HP:0012316	Fibrous tissue neoplasm	118429	ANTXR2	OMIM:228600
HP:0012316	Fibrous tissue neoplasm	118429	ANTXR2	ORPHA:2028
HP:0012316	Fibrous tissue neoplasm	23461	ABCA5	OMIM:135400
HP:0012316	Fibrous tissue neoplasm	23461	ABCA5	ORPHA:2026
HP:0012316	Fibrous tissue neoplasm	54757	FAM20A	OMIM:204690
HP:0012316	Fibrous tissue neoplasm	3756	KCNH1	OMIM:135500
HP:0012316	Fibrous tissue neoplasm	3756	KCNH1	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	63916	ELMO2	ORPHA:3019
HP:0012316	Fibrous tissue neoplasm	5978	REST	ORPHA:2024
HP:0012316	Fibrous tissue neoplasm	5978	REST	OMIM:617626
HP:0012316	Fibrous tissue neoplasm	526	ATP6V1B2	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	3782	KCNN3	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	56975	FAM20C	ORPHA:1832
HP:0012316	Fibrous tissue neoplasm	3815	KIT	OMIM:606764
HP:0012316	Fibrous tissue neoplasm	6711	SPTBN1	OMIM:619475
HP:0012316	Fibrous tissue neoplasm	161742	SPRED1	OMIM:611431
HP:0012316	Fibrous tissue neoplasm	161742	SPRED1	ORPHA:137605
HP:0012316	Fibrous tissue neoplasm	8314	BAP1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	4771	NF2	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	6598	SMARCB1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	5155	PDGFB	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	84231	TRAF7	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	6608	SMO	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	7015	TERT	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	51684	SUFU	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	6605	SMARCE1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	4035	LRP1	ORPHA:79100
HP:0012316	Fibrous tissue neoplasm	4763	NF1	OMIM:162210
HP:0012316	Fibrous tissue neoplasm	4292	MLH1	OMIM:158320
HP:0012316	Fibrous tissue neoplasm	4292	MLH1	ORPHA:587
HP:0012316	Fibrous tissue neoplasm	4436	MSH2	OMIM:158320
HP:0012316	Fibrous tissue neoplasm	4436	MSH2	ORPHA:587
HP:0012316	Fibrous tissue neoplasm	3265	HRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	3845	KRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	4893	NRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	7249	TSC2	OMIM:613254
HP:0012316	Fibrous tissue neoplasm	3458	IFNG	OMIM:613254
HP:0012316	Fibrous tissue neoplasm	2956	MSH6	ORPHA:587
HP:0012316	Fibrous tissue neoplasm	10483	SEC23B	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	5728	PTEN	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6390	SDHB	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6392	SDHD	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6391	SDHC	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	207	AKT1	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	205717	USF3	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	5290	PIK3CA	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	100144748	KLLN	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	5333	PLCD1	ORPHA:2387
HP:0012316	Fibrous tissue neoplasm	7248	TSC1	OMIM:191100
HP:0012316	Fibrous tissue neoplasm	4221	MEN1	OMIM:131100
HP:0012316	Fibrous tissue neoplasm	3872	KRT17	ORPHA:841
HP:0012316	Fibrous tissue neoplasm	5159	PDGFRB	OMIM:228550
HP:0012316	Fibrous tissue neoplasm	5159	PDGFRB	ORPHA:2591
HP:0012316	Fibrous tissue neoplasm	1499	CTNNB1	ORPHA:873
HP:0012316	Fibrous tissue neoplasm	79577	CDC73	ORPHA:143
HP:0012316	Fibrous tissue neoplasm	79577	CDC73	ORPHA:99880
HP:0012316	Fibrous tissue neoplasm	4854	NOTCH3	ORPHA:2591
HP:0012316	Fibrous tissue neoplasm	1288	COL4A6	ORPHA:1018
HP:0012316	Fibrous tissue neoplasm	1287	COL4A5	ORPHA:1018
HP:0012316	Fibrous tissue neoplasm	3572	IL6ST	OMIM:619750
HP:0012316	Fibrous tissue neoplasm	1027	CDKN1B	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1027	CDKN1B	ORPHA:276152
HP:0012316	Fibrous tissue neoplasm	1026	CDKN1A	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1030	CDKN2B	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1031	CDKN2C	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	5727	PTCH1	ORPHA:77301
HP:0012316	Fibrous tissue neoplasm	5727	PTCH1	OMIM:109400
HP:0012316	Fibrous tissue neoplasm	5618	PRLR	OMIM:615554
HP:0012316	Fibrous tissue neoplasm	5566	PRKACA	ORPHA:189439
HP:0012316	Fibrous tissue neoplasm	8622	PDE8B	ORPHA:189439
HP:0012316	Fibrous tissue neoplasm	5573	PRKAR1A	ORPHA:189439
HP:0012316	Fibrous tissue neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0012316	Fibrous tissue neoplasm	50940	PDE11A	ORPHA:189439
HP:0012316	Fibrous tissue neoplasm	50940	PDE11A	ORPHA:1359
HP:0012316	Fibrous tissue neoplasm	355	FAS	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	356	FASLG	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	5580	PRKCD	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	843	CASP10	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	10125	RASGRP1	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	324	APC	OMIM:175100
HP:0012316	Fibrous tissue neoplasm	324	APC	ORPHA:247806
HP:0012316	Fibrous tissue neoplasm	1385	CREB1	OMIM:612160
HP:0012316	Fibrous tissue neoplasm	4507	MTAP	OMIM:112250
HP:0012316	Fibrous tissue neoplasm	2316	FLNA	ORPHA:88630
HP:0012316	Fibrous tissue neoplasm	89970	RSPRY1	ORPHA:457395
HP:0012316	Fibrous tissue neoplasm	4595	MUTYH	ORPHA:247798
HP:0012316	Fibrous tissue neoplasm	26585	GREM1	ORPHA:157794
HP:0012316	Fibrous tissue neoplasm	657	BMPR1A	ORPHA:157794
HP:0012317	Sacroiliac arthritis	3106	HLA-B	OMIM:106300
HP:0002100	Recurrent aspiration pneumonia	3476	IGBP1	OMIM:300472
HP:0002100	Recurrent aspiration pneumonia	79848	CSPP1	ORPHA:397715
HP:0002100	Recurrent aspiration pneumonia	9786	KIAA0586	ORPHA:397715
HP:0002100	Recurrent aspiration pneumonia	4914	NTRK1	ORPHA:642
HP:0002100	Recurrent aspiration pneumonia	4784	NFIX	OMIM:602535
HP:0002100	Recurrent aspiration pneumonia	427	ASAH1	ORPHA:2590
HP:0002100	Recurrent aspiration pneumonia	23556	PIGN	ORPHA:280633
HP:0002100	Recurrent aspiration pneumonia	2629	GBA1	OMIM:230900
HP:0002100	Recurrent aspiration pneumonia	535	ATP6V0A1	OMIM:619971
HP:0002100	Recurrent aspiration pneumonia	4281	MID1	ORPHA:2745
HP:0002100	Recurrent aspiration pneumonia	29957	SLC25A24	OMIM:612289
HP:0002100	Recurrent aspiration pneumonia	7994	KAT6A	OMIM:616268
HP:0002100	Recurrent aspiration pneumonia	9361	LONP1	ORPHA:79243
HP:0002100	Recurrent aspiration pneumonia	5160	PDHA1	ORPHA:79243
HP:0002100	Recurrent aspiration pneumonia	3431	SP110	ORPHA:79124
HP:0002100	Recurrent aspiration pneumonia	378884	NHLRC1	ORPHA:501
HP:0002100	Recurrent aspiration pneumonia	7957	EPM2A	ORPHA:501
HP:0002100	Recurrent aspiration pneumonia	3119	HLA-DQB1	ORPHA:930
HP:0002100	Recurrent aspiration pneumonia	9244	CRLF1	ORPHA:930
HP:0002100	Recurrent aspiration pneumonia	3117	HLA-DQA1	ORPHA:930
HP:0002100	Recurrent aspiration pneumonia	4842	NOS1	ORPHA:930
HP:0002100	Recurrent aspiration pneumonia	5293	PIK3CD	ORPHA:221139
HP:0002100	Recurrent aspiration pneumonia	90417	KNSTRN	ORPHA:221139
HP:0002100	Recurrent aspiration pneumonia	10755	GIPC1	ORPHA:98897
HP:0002100	Recurrent aspiration pneumonia	100996717	NOTCH2NLC	ORPHA:98897
HP:0002100	Recurrent aspiration pneumonia	8085	KMT2D	OMIM:147920
HP:0002100	Recurrent aspiration pneumonia	7403	KDM6A	OMIM:147920
HP:0002102	Pleuritis	4210	MEFV	ORPHA:342
HP:0002102	Pleuritis	4210	MEFV	OMIM:249100
HP:0002102	Pleuritis	4210	MEFV	OMIM:134610
HP:0002102	Pleuritis	4210	MEFV	ORPHA:117
HP:0002102	Pleuritis	64127	NOD2	OMIM:617321
HP:0002102	Pleuritis	2212	FCGR2A	OMIM:152700
HP:0002102	Pleuritis	2213	FCGR2B	OMIM:152700
HP:0002102	Pleuritis	26191	PTPN22	OMIM:152700
HP:0002102	Pleuritis	26191	PTPN22	ORPHA:900
HP:0002102	Pleuritis	11277	TREX1	OMIM:152700
HP:0002102	Pleuritis	1493	CTLA4	OMIM:152700
HP:0002102	Pleuritis	1493	CTLA4	ORPHA:900
HP:0002102	Pleuritis	1773	DNASE1	OMIM:152700
HP:0002102	Pleuritis	10216	PRG4	ORPHA:2848
HP:0002102	Pleuritis	7132	TNFRSF1A	OMIM:142680
HP:0002102	Pleuritis	7132	TNFRSF1A	ORPHA:32960
HP:0002102	Pleuritis	3115	HLA-DPB1	ORPHA:900
HP:0002102	Pleuritis	5657	PRTN3	ORPHA:900
HP:0002102	Pleuritis	3113	HLA-DPA1	ORPHA:900
HP:0002102	Pleuritis	3662	IRF4	ORPHA:3452
HP:0002102	Pleuritis	149233	IL23R	ORPHA:117
HP:0002102	Pleuritis	6775	STAT4	ORPHA:117
HP:0002102	Pleuritis	3586	IL10	ORPHA:117
HP:0002102	Pleuritis	1230	CCR1	ORPHA:117
HP:0002102	Pleuritis	355	FAS	ORPHA:117
HP:0002102	Pleuritis	3592	IL12A	ORPHA:117
HP:0002102	Pleuritis	101928376	IL12A-AS1	ORPHA:117
HP:0002102	Pleuritis	3106	HLA-B	ORPHA:117
HP:0002102	Pleuritis	7099	TLR4	ORPHA:117
HP:0002102	Pleuritis	3459	IFNGR1	ORPHA:117
HP:0002102	Pleuritis	720	C4A	ORPHA:117
HP:0002102	Pleuritis	337867	UBAC2	ORPHA:117
HP:0002102	Pleuritis	51752	ERAP1	ORPHA:117
HP:0002102	Pleuritis	8302	KLRC4	ORPHA:117
HP:0002103	Abnormal pleura morphology	4210	MEFV	ORPHA:342
HP:0002103	Abnormal pleura morphology	4210	MEFV	OMIM:249100
HP:0002103	Abnormal pleura morphology	4210	MEFV	OMIM:134610
HP:0002103	Abnormal pleura morphology	4210	MEFV	ORPHA:117
HP:0002103	Abnormal pleura morphology	64127	NOD2	OMIM:617321
HP:0002103	Abnormal pleura morphology	2212	FCGR2A	OMIM:152700
HP:0002103	Abnormal pleura morphology	2213	FCGR2B	OMIM:152700
HP:0002103	Abnormal pleura morphology	26191	PTPN22	OMIM:152700
HP:0002103	Abnormal pleura morphology	26191	PTPN22	ORPHA:900
HP:0002103	Abnormal pleura morphology	11277	TREX1	OMIM:152700
HP:0002103	Abnormal pleura morphology	1493	CTLA4	OMIM:152700
HP:0002103	Abnormal pleura morphology	1493	CTLA4	ORPHA:900
HP:0002103	Abnormal pleura morphology	1773	DNASE1	OMIM:152700
HP:0002103	Abnormal pleura morphology	10216	PRG4	ORPHA:2848
HP:0002103	Abnormal pleura morphology	7132	TNFRSF1A	OMIM:142680
HP:0002103	Abnormal pleura morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002103	Abnormal pleura morphology	3115	HLA-DPB1	ORPHA:900
HP:0002103	Abnormal pleura morphology	5657	PRTN3	ORPHA:900
HP:0002103	Abnormal pleura morphology	3113	HLA-DPA1	ORPHA:900
HP:0002103	Abnormal pleura morphology	3662	IRF4	ORPHA:3452
HP:0002103	Abnormal pleura morphology	149233	IL23R	ORPHA:117
HP:0002103	Abnormal pleura morphology	6775	STAT4	ORPHA:117
HP:0002103	Abnormal pleura morphology	3586	IL10	ORPHA:117
HP:0002103	Abnormal pleura morphology	1230	CCR1	ORPHA:117
HP:0002103	Abnormal pleura morphology	355	FAS	ORPHA:117
HP:0002103	Abnormal pleura morphology	3592	IL12A	ORPHA:117
HP:0002103	Abnormal pleura morphology	101928376	IL12A-AS1	ORPHA:117
HP:0002103	Abnormal pleura morphology	3106	HLA-B	ORPHA:117
HP:0002103	Abnormal pleura morphology	7099	TLR4	ORPHA:117
HP:0002103	Abnormal pleura morphology	3459	IFNGR1	ORPHA:117
HP:0002103	Abnormal pleura morphology	720	C4A	ORPHA:117
HP:0002103	Abnormal pleura morphology	337867	UBAC2	ORPHA:117
HP:0002103	Abnormal pleura morphology	51752	ERAP1	ORPHA:117
HP:0002103	Abnormal pleura morphology	8302	KLRC4	ORPHA:117
HP:0002103	Abnormal pleura morphology	3123	HLA-DRB1	ORPHA:397
HP:0002103	Abnormal pleura morphology	3123	HLA-DRB1	ORPHA:797
HP:0002103	Abnormal pleura morphology	8974	P4HA2	ORPHA:397
HP:0002103	Abnormal pleura morphology	2990	GUSB	ORPHA:584
HP:0002103	Abnormal pleura morphology	940	CD28	ORPHA:3162
HP:0002103	Abnormal pleura morphology	7133	TNFRSF1B	ORPHA:3162
HP:0002103	Abnormal pleura morphology	10320	IKZF1	ORPHA:36426
HP:0002103	Abnormal pleura morphology	27238	GPKOW	ORPHA:2570
HP:0002103	Abnormal pleura morphology	8518	ELP1	ORPHA:1764
HP:0002103	Abnormal pleura morphology	201163	FLCN	ORPHA:2903
HP:0002103	Abnormal pleura morphology	56244	BTNL2	ORPHA:797
HP:0002103	Abnormal pleura morphology	8314	BAP1	ORPHA:50251
HP:0002103	Abnormal pleura morphology	2200	FBN1	OMIM:154700
HP:0002103	Abnormal pleura morphology	2200	FBN1	ORPHA:91387
HP:0002103	Abnormal pleura morphology	10526	IPO8	OMIM:619472
HP:0002103	Abnormal pleura morphology	113189	CHST14	ORPHA:2953
HP:0002103	Abnormal pleura morphology	113189	CHST14	OMIM:601776
HP:0002103	Abnormal pleura morphology	29940	DSE	ORPHA:2953
HP:0002103	Abnormal pleura morphology	10352	WARS2	OMIM:619738
HP:0002103	Abnormal pleura morphology	29957	SLC25A24	OMIM:612289
HP:0002103	Abnormal pleura morphology	4088	SMAD3	OMIM:613795
HP:0002103	Abnormal pleura morphology	4088	SMAD3	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4052	LTBP1	ORPHA:90349
HP:0002103	Abnormal pleura morphology	30008	EFEMP2	ORPHA:90349
HP:0002103	Abnormal pleura morphology	10516	FBLN5	ORPHA:90349
HP:0002103	Abnormal pleura morphology	79770	TXNDC15	OMIM:619879
HP:0002103	Abnormal pleura morphology	81570	CLPB	ORPHA:445038
HP:0002103	Abnormal pleura morphology	3909	LAMA3	ORPHA:79404
HP:0002103	Abnormal pleura morphology	3918	LAMC2	ORPHA:79404
HP:0002103	Abnormal pleura morphology	3914	LAMB3	ORPHA:79404
HP:0002103	Abnormal pleura morphology	6804	STX1A	ORPHA:586
HP:0002103	Abnormal pleura morphology	2947	GSTM3	ORPHA:586
HP:0002103	Abnormal pleura morphology	7040	TGFB1	ORPHA:586
HP:0002103	Abnormal pleura morphology	2729	GCLC	ORPHA:586
HP:0002103	Abnormal pleura morphology	1084	CEACAM3	ORPHA:586
HP:0002103	Abnormal pleura morphology	6556	SLC11A1	ORPHA:586
HP:0002103	Abnormal pleura morphology	51164	DCTN4	ORPHA:586
HP:0002103	Abnormal pleura morphology	3783	KCNN4	ORPHA:586
HP:0002103	Abnormal pleura morphology	1909	EDNRA	ORPHA:586
HP:0002103	Abnormal pleura morphology	6550	SLC9A3	ORPHA:586
HP:0002103	Abnormal pleura morphology	3162	HMOX1	ORPHA:586
HP:0002103	Abnormal pleura morphology	115019	SLC26A9	ORPHA:586
HP:0002103	Abnormal pleura morphology	11254	SLC6A14	ORPHA:586
HP:0002103	Abnormal pleura morphology	5265	SERPINA1	ORPHA:586
HP:0002103	Abnormal pleura morphology	22802	CLCA4	ORPHA:586
HP:0002103	Abnormal pleura morphology	4680	CEACAM6	ORPHA:586
HP:0002103	Abnormal pleura morphology	4921	DDR2	OMIM:618175
HP:0002103	Abnormal pleura morphology	523	ATP6V1A	OMIM:617403
HP:0002103	Abnormal pleura morphology	529	ATP6V1E1	OMIM:617402
HP:0002103	Abnormal pleura morphology	7042	TGFB2	OMIM:614816
HP:0002103	Abnormal pleura morphology	7042	TGFB2	ORPHA:91387
HP:0002103	Abnormal pleura morphology	3265	HRAS	OMIM:218040
HP:0002103	Abnormal pleura morphology	4629	MYH11	ORPHA:91387
HP:0002103	Abnormal pleura morphology	7046	TGFBR1	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4015	LOX	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4087	SMAD2	ORPHA:91387
HP:0002103	Abnormal pleura morphology	7043	TGFB3	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4089	SMAD4	ORPHA:91387
HP:0002103	Abnormal pleura morphology	59	ACTA2	ORPHA:91387
HP:0002103	Abnormal pleura morphology	5592	PRKG1	ORPHA:91387
HP:0002103	Abnormal pleura morphology	2301	FOXE3	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4144	MAT2A	ORPHA:91387
HP:0002103	Abnormal pleura morphology	23493	HEY2	ORPHA:91387
HP:0002103	Abnormal pleura morphology	8076	MFAP5	ORPHA:91387
HP:0002103	Abnormal pleura morphology	4638	MYLK	ORPHA:91387
HP:0002103	Abnormal pleura morphology	2006	ELN	ORPHA:91387
HP:0002103	Abnormal pleura morphology	79875	THSD4	OMIM:619825
HP:0002103	Abnormal pleura morphology	7048	TGFBR2	OMIM:610168
HP:0002103	Abnormal pleura morphology	199221	DZIP1L	ORPHA:731
HP:0002103	Abnormal pleura morphology	5314	PKHD1	ORPHA:731
HP:0002103	Abnormal pleura morphology	6440	SFTPC	OMIM:610913
HP:0002103	Abnormal pleura morphology	83483	PLVAP	OMIM:618183
HP:0002103	Abnormal pleura morphology	2294	FOXF1	OMIM:265380
HP:0002103	Abnormal pleura morphology	144811	LACC1	ORPHA:85414
HP:0002103	Abnormal pleura morphology	4282	MIF	ORPHA:85414
HP:0002103	Abnormal pleura morphology	3569	IL6	ORPHA:85414
HP:0002103	Abnormal pleura morphology	51422	PRKAG2	OMIM:261740
HP:0002103	Abnormal pleura morphology	595	CCND1	ORPHA:29073
HP:0002103	Abnormal pleura morphology	8216	LZTR1	OMIM:616564
HP:0002103	Abnormal pleura morphology	3702	ITK	OMIM:613011
HP:0002103	Abnormal pleura morphology	9780	PIEZO1	OMIM:616843
HP:0002103	Abnormal pleura morphology	6016	RIT1	OMIM:615355
HP:0002103	Abnormal pleura morphology	2548	GAA	OMIM:232300
HP:0002103	Abnormal pleura morphology	25821	MTO1	OMIM:614702
HP:0002103	Abnormal pleura morphology	6696	SPP1	ORPHA:93552
HP:0002103	Abnormal pleura morphology	3654	IRAK1	ORPHA:93552
HP:0002103	Abnormal pleura morphology	1776	DNASE1L3	ORPHA:36412
HP:0002103	Abnormal pleura morphology	596	BCL2	ORPHA:545
HP:0002103	Abnormal pleura morphology	3492	IGH	ORPHA:545
HP:0002103	Abnormal pleura morphology	604	BCL6	ORPHA:545
HP:0002103	Abnormal pleura morphology	1080	CFTR	OMIM:167800
HP:0002103	Abnormal pleura morphology	11330	CTRC	OMIM:167800
HP:0002103	Abnormal pleura morphology	6690	SPINK1	OMIM:167800
HP:0002103	Abnormal pleura morphology	5645	PRSS2	OMIM:167800
HP:0002103	Abnormal pleura morphology	5644	PRSS1	OMIM:167800
HP:0002103	Abnormal pleura morphology	81	ACTN4	OMIM:603278
HP:0002103	Abnormal pleura morphology	57169	ZNFX1	OMIM:619644
HP:0002103	Abnormal pleura morphology	2050	EPHB4	OMIM:617300
HP:0002103	Abnormal pleura morphology	2050	EPHB4	ORPHA:90186
HP:0002103	Abnormal pleura morphology	84162	BLTP1	OMIM:617822
HP:0002103	Abnormal pleura morphology	202018	TAPT1	OMIM:616897
HP:0002103	Abnormal pleura morphology	3832	KIF11	ORPHA:2526
HP:0002103	Abnormal pleura morphology	3075	CFH	ORPHA:244242
HP:0002103	Abnormal pleura morphology	3426	CFI	ORPHA:244242
HP:0002103	Abnormal pleura morphology	4179	CD46	ORPHA:244242
HP:0002103	Abnormal pleura morphology	101101692	HELLPAR	ORPHA:244242
HP:0002103	Abnormal pleura morphology	54345	SOX18	ORPHA:69735
HP:0002103	Abnormal pleura morphology	10551	AGR2	OMIM:620233
HP:0002103	Abnormal pleura morphology	64135	IFIH1	OMIM:182250
HP:0002103	Abnormal pleura morphology	2859	GPR35	ORPHA:171
HP:0002103	Abnormal pleura morphology	10507	SEMA4D	ORPHA:171
HP:0002103	Abnormal pleura morphology	4485	MST1	ORPHA:171
HP:0002103	Abnormal pleura morphology	6925	TCF4	ORPHA:171
HP:0002103	Abnormal pleura morphology	50619	DEF6	OMIM:619573
HP:0002103	Abnormal pleura morphology	11274	USP18	OMIM:617397
HP:0002103	Abnormal pleura morphology	738	VPS51	OMIM:618606
HP:0002103	Abnormal pleura morphology	2492	FSHR	ORPHA:64739
HP:0002103	Abnormal pleura morphology	147372	CCBE1	OMIM:235510
HP:0002103	Abnormal pleura morphology	1130	LYST	ORPHA:167
HP:0002103	Abnormal pleura morphology	4615	MYD88	ORPHA:33226
HP:0002103	Abnormal pleura morphology	1536	CYBB	OMIM:306400
HP:0002103	Abnormal pleura morphology	857	CAV1	OMIM:606721
HP:0002103	Abnormal pleura morphology	440275	EIF2AK4	ORPHA:199241
HP:0002103	Abnormal pleura morphology	10203	CALCRL	OMIM:618773
HP:0002103	Abnormal pleura morphology	79415	CYBC1	OMIM:618935
HP:0002103	Abnormal pleura morphology	9971	NR1H4	OMIM:617049
HP:0002103	Abnormal pleura morphology	950	SCARB2	OMIM:254900
HP:0002103	Abnormal pleura morphology	3077	HFE	OMIM:235200
HP:0002103	Abnormal pleura morphology	650	BMP2	OMIM:235200
HP:0002103	Abnormal pleura morphology	6439	SFTPB	ORPHA:217563
HP:0002103	Abnormal pleura morphology	9509	ADAMTS2	OMIM:225410
HP:0002103	Abnormal pleura morphology	25	ABL1	OMIM:617602
HP:0002103	Abnormal pleura morphology	126792	B3GALT6	ORPHA:536467
HP:0002103	Abnormal pleura morphology	199857	ALG14	OMIM:619036
HP:0002103	Abnormal pleura morphology	2303	FOXC2	OMIM:153400
HP:0002103	Abnormal pleura morphology	867	CBL	OMIM:613563
HP:0002103	Abnormal pleura morphology	9508	ADAMTS3	ORPHA:2136
HP:0002103	Abnormal pleura morphology	79633	FAT4	ORPHA:2136
HP:0002103	Abnormal pleura morphology	5921	RASA1	ORPHA:137667
HP:0002103	Abnormal pleura morphology	7248	TSC1	ORPHA:538
HP:0002103	Abnormal pleura morphology	7249	TSC2	ORPHA:538
HP:0002103	Abnormal pleura morphology	5604	MAP2K1	OMIM:163950
HP:0002103	Abnormal pleura morphology	5781	PTPN11	OMIM:163950
HP:0002103	Abnormal pleura morphology	673	BRAF	OMIM:163950
HP:0002103	Abnormal pleura morphology	2131	EXT1	ORPHA:321
HP:0002103	Abnormal pleura morphology	2132	EXT2	ORPHA:321
HP:0002103	Abnormal pleura morphology	1281	COL3A1	OMIM:130050
HP:0002103	Abnormal pleura morphology	5345	SERPINF2	ORPHA:79
HP:0002103	Abnormal pleura morphology	5345	SERPINF2	OMIM:262850
HP:0002103	Abnormal pleura morphology	2022	ENG	OMIM:187300
HP:0002103	Abnormal pleura morphology	29969	MDFIC	OMIM:620014
HP:0002103	Abnormal pleura morphology	10568	SLC34A2	ORPHA:60025
HP:0002103	Abnormal pleura morphology	29775	CARD10	OMIM:619632
HP:0002103	Abnormal pleura morphology	4665	NAB2	ORPHA:2126
HP:0002103	Abnormal pleura morphology	6778	STAT6	ORPHA:2126
HP:0002103	Abnormal pleura morphology	23405	DICER1	OMIM:601200
HP:0002103	Abnormal pleura morphology	23405	DICER1	OMIM:180295
HP:0002103	Abnormal pleura morphology	23405	DICER1	ORPHA:276399
HP:0002103	Abnormal pleura morphology	9817	KEAP1	ORPHA:276399
HP:0002104	Apnea	3155	HMGCL	ORPHA:20
HP:0002104	Apnea	4524	MTHFR	ORPHA:395
HP:0002104	Apnea	51422	PRKAG2	OMIM:261740
HP:0002104	Apnea	9759	HDAC4	OMIM:619797
HP:0002104	Apnea	4723	NDUFV1	OMIM:618225
HP:0002104	Apnea	4723	NDUFV1	ORPHA:255241
HP:0002104	Apnea	79848	CSPP1	OMIM:615636
HP:0002104	Apnea	79848	CSPP1	ORPHA:397715
HP:0002104	Apnea	79848	CSPP1	ORPHA:475
HP:0002104	Apnea	590	BCHE	OMIM:617936
HP:0002104	Apnea	4719	NDUFS1	OMIM:618226
HP:0002104	Apnea	4719	NDUFS1	ORPHA:255241
HP:0002104	Apnea	1798	DPAGT1	OMIM:608093
HP:0002104	Apnea	95	ACY1	ORPHA:137754
HP:0002104	Apnea	4720	NDUFS2	OMIM:618228
HP:0002104	Apnea	4720	NDUFS2	ORPHA:70474
HP:0002104	Apnea	4720	NDUFS2	ORPHA:255241
HP:0002104	Apnea	53616	ADAM22	OMIM:617933
HP:0002104	Apnea	6334	SCN8A	ORPHA:306
HP:0002104	Apnea	6326	SCN2A	ORPHA:306
HP:0002104	Apnea	6326	SCN2A	OMIM:607745
HP:0002104	Apnea	112476	PRRT2	ORPHA:306
HP:0002104	Apnea	3785	KCNQ2	ORPHA:306
HP:0002104	Apnea	3785	KCNQ2	ORPHA:1949
HP:0002104	Apnea	3785	KCNQ2	ORPHA:439218
HP:0002104	Apnea	3786	KCNQ3	ORPHA:306
HP:0002104	Apnea	3786	KCNQ3	ORPHA:1949
HP:0002104	Apnea	4703	NEB	OMIM:256030
HP:0002104	Apnea	5830	PEX5	OMIM:214110
HP:0002104	Apnea	2629	GBA1	OMIM:608013
HP:0002104	Apnea	2629	GBA1	OMIM:230900
HP:0002104	Apnea	256297	PTF1A	OMIM:609069
HP:0002104	Apnea	10312	TCIRG1	ORPHA:667
HP:0002104	Apnea	1186	CLCN7	ORPHA:667
HP:0002104	Apnea	29887	SNX10	ORPHA:667
HP:0002104	Apnea	8600	TNFSF11	ORPHA:667
HP:0002104	Apnea	9786	KIAA0586	ORPHA:397715
HP:0002104	Apnea	9786	KIAA0586	ORPHA:475
HP:0002104	Apnea	9786	KIAA0586	OMIM:616490
HP:0002104	Apnea	4535	MT-ND1	ORPHA:255210
HP:0002104	Apnea	4536	MT-ND2	ORPHA:255210
HP:0002104	Apnea	4537	MT-ND3	ORPHA:255210
HP:0002104	Apnea	4538	MT-ND4	ORPHA:255210
HP:0002104	Apnea	4567	MT-TL1	ORPHA:255210
HP:0002104	Apnea	4578	MT-TW	ORPHA:255210
HP:0002104	Apnea	4577	MT-TV	ORPHA:255210
HP:0002104	Apnea	4508	MT-ATP6	ORPHA:255210
HP:0002104	Apnea	4540	MT-ND5	ORPHA:255210
HP:0002104	Apnea	4541	MT-ND6	ORPHA:255210
HP:0002104	Apnea	4566	MT-TK	ORPHA:255210
HP:0002104	Apnea	7259	TSPYL1	OMIM:608800
HP:0002104	Apnea	91942	NDUFAF2	OMIM:618233
HP:0002104	Apnea	91942	NDUFAF2	ORPHA:255241
HP:0002104	Apnea	6341	SCO1	OMIM:619048
HP:0002104	Apnea	249	ALPL	OMIM:241500
HP:0002104	Apnea	4695	NDUFA2	OMIM:618235
HP:0002104	Apnea	4695	NDUFA2	ORPHA:255241
HP:0002104	Apnea	126328	NDUFA11	OMIM:618236
HP:0002104	Apnea	6536	SLC6A9	OMIM:617301
HP:0002104	Apnea	4867	NPHP1	ORPHA:220497
HP:0002104	Apnea	65062	TMEM237	ORPHA:220497
HP:0002104	Apnea	65062	TMEM237	ORPHA:2318
HP:0002104	Apnea	65062	TMEM237	ORPHA:475
HP:0002104	Apnea	153241	CEP120	ORPHA:220493
HP:0002104	Apnea	153241	CEP120	ORPHA:475
HP:0002104	Apnea	54903	MKS1	ORPHA:220493
HP:0002104	Apnea	54903	MKS1	ORPHA:475
HP:0002104	Apnea	95681	CEP41	ORPHA:220493
HP:0002104	Apnea	95681	CEP41	ORPHA:475
HP:0002104	Apnea	29968	PSAT1	OMIM:610992
HP:0002104	Apnea	6662	SOX9	OMIM:114290
HP:0002104	Apnea	1644	DDC	OMIM:608643
HP:0002104	Apnea	1410	CRYAB	OMIM:613869
HP:0002104	Apnea	6439	SFTPB	OMIM:265120
HP:0002104	Apnea	5105	PCK1	OMIM:261680
HP:0002104	Apnea	55906	ZC4H2	OMIM:314580
HP:0002104	Apnea	8260	NAA10	OMIM:300855
HP:0002104	Apnea	816	CAMK2B	OMIM:617799
HP:0002104	Apnea	6773	STAT2	OMIM:618886
HP:0002104	Apnea	686	BTD	OMIM:253260
HP:0002104	Apnea	686	BTD	ORPHA:79241
HP:0002104	Apnea	114034	TOE1	OMIM:614969
HP:0002104	Apnea	1509	CTSD	OMIM:610127
HP:0002104	Apnea	21	ABCA3	OMIM:610921
HP:0002104	Apnea	54675	CRLS1	OMIM:620167
HP:0002104	Apnea	79583	TMEM231	ORPHA:2318
HP:0002104	Apnea	51524	TMEM138	ORPHA:2318
HP:0002104	Apnea	23090	ZNF423	ORPHA:2318
HP:0002104	Apnea	5621	PRNP	OMIM:600072
HP:0002104	Apnea	3767	KCNJ11	ORPHA:79644
HP:0002104	Apnea	8604	SLC25A12	OMIM:612949
HP:0002104	Apnea	5095	PCCA	OMIM:606054
HP:0002104	Apnea	5096	PCCB	OMIM:606054
HP:0002104	Apnea	2898	GRIK2	OMIM:619580
HP:0002104	Apnea	9184	BUB3	ORPHA:1052
HP:0002104	Apnea	699	BUB1	ORPHA:1052
HP:0002104	Apnea	9702	CEP57	ORPHA:1052
HP:0002104	Apnea	9319	TRIP13	ORPHA:1052
HP:0002104	Apnea	701	BUB1B	ORPHA:1052
HP:0002104	Apnea	3977	LIFR	OMIM:601559
HP:0002104	Apnea	3977	LIFR	ORPHA:3206
HP:0002104	Apnea	8802	SUCLG1	ORPHA:17
HP:0002104	Apnea	84314	TMEM107	OMIM:617563
HP:0002104	Apnea	4700	NDUFA6	OMIM:618253
HP:0002104	Apnea	91147	TMEM67	ORPHA:1454
HP:0002104	Apnea	91147	TMEM67	ORPHA:475
HP:0002104	Apnea	56922	MCCC1	OMIM:210200
HP:0002104	Apnea	2783	GNB2	OMIM:619503
HP:0002104	Apnea	4632	MYL1	OMIM:618414
HP:0002104	Apnea	2752	GLUL	OMIM:610015
HP:0002104	Apnea	9152	SLC6A5	OMIM:614618
HP:0002104	Apnea	79600	TCTN1	ORPHA:475
HP:0002104	Apnea	51684	SUFU	ORPHA:475
HP:0002104	Apnea	65250	CPLANE1	ORPHA:475
HP:0002104	Apnea	65250	CPLANE1	ORPHA:2754
HP:0002104	Apnea	200894	ARL13B	ORPHA:475
HP:0002104	Apnea	9731	CEP104	ORPHA:475
HP:0002104	Apnea	219844	HYLS1	ORPHA:475
HP:0002104	Apnea	23247	KATNIP	ORPHA:475
HP:0002104	Apnea	219854	TMEM218	ORPHA:475
HP:0002104	Apnea	79867	TCTN2	ORPHA:475
HP:0002104	Apnea	80776	B9D2	ORPHA:475
HP:0002104	Apnea	10464	PIBF1	ORPHA:475
HP:0002104	Apnea	10464	PIBF1	OMIM:617767
HP:0002104	Apnea	80210	ARMC9	ORPHA:475
HP:0002104	Apnea	80210	ARMC9	OMIM:617622
HP:0002104	Apnea	23116	TOGARAM1	ORPHA:475
HP:0002104	Apnea	25776	CBY1	ORPHA:475
HP:0002104	Apnea	27077	B9D1	ORPHA:475
HP:0002104	Apnea	403	ARL3	ORPHA:475
HP:0002104	Apnea	8943	AP3D1	OMIM:617050
HP:0002104	Apnea	11212	PLPBP	OMIM:617290
HP:0002104	Apnea	11019	LIAS	OMIM:614462
HP:0002104	Apnea	8021	NUP214	OMIM:618426
HP:0002104	Apnea	773	CACNA1A	ORPHA:2131
HP:0002104	Apnea	6507	SLC1A3	ORPHA:2131
HP:0002104	Apnea	477	ATP1A2	ORPHA:2131
HP:0002104	Apnea	9289	ADGRG1	ORPHA:98889
HP:0002104	Apnea	5297	PI4KA	ORPHA:98889
HP:0002104	Apnea	27286	SRPX2	ORPHA:98889
HP:0002104	Apnea	25915	NDUFAF3	ORPHA:70474
HP:0002104	Apnea	4714	NDUFB8	ORPHA:70474
HP:0002104	Apnea	9997	SCO2	ORPHA:70474
HP:0002104	Apnea	6834	SURF1	ORPHA:70474
HP:0002104	Apnea	6834	SURF1	ORPHA:255241
HP:0002104	Apnea	283446	MYO1H	OMIM:619482
HP:0002104	Apnea	728294	D2HGDH	OMIM:600721
HP:0002104	Apnea	10660	LBX1	OMIM:619483
HP:0002104	Apnea	23522	KAT6B	ORPHA:85201
HP:0002104	Apnea	116461	TSEN15	ORPHA:2524
HP:0002104	Apnea	79042	TSEN34	ORPHA:2524
HP:0002104	Apnea	80746	TSEN2	ORPHA:2524
HP:0002104	Apnea	51091	SEPSECS	ORPHA:2524
HP:0002104	Apnea	4976	OPA1	OMIM:616896
HP:0002104	Apnea	2741	GLRA1	OMIM:149400
HP:0002104	Apnea	10243	GPHN	OMIM:149400
HP:0002104	Apnea	9373	PLAA	ORPHA:521426
HP:0002104	Apnea	9373	PLAA	OMIM:617527
HP:0002104	Apnea	57038	RARS2	OMIM:611523
HP:0002104	Apnea	9562	MINPP1	OMIM:619527
HP:0002104	Apnea	7841	MOGS	ORPHA:79330
HP:0002104	Apnea	8241	RBM10	ORPHA:2886
HP:0002104	Apnea	139285	AMER1	OMIM:300373
HP:0002104	Apnea	6389	SDHA	ORPHA:255241
HP:0002104	Apnea	80704	SLC19A3	ORPHA:255241
HP:0002104	Apnea	55572	FOXRED1	ORPHA:255241
HP:0002104	Apnea	4729	NDUFV2	ORPHA:255241
HP:0002104	Apnea	55967	NDUFA12	ORPHA:255241
HP:0002104	Apnea	51204	TACO1	ORPHA:255241
HP:0002104	Apnea	4724	NDUFS4	ORPHA:255241
HP:0002104	Apnea	4724	NDUFS4	OMIM:252010
HP:0002104	Apnea	137682	NDUFAF6	ORPHA:255241
HP:0002104	Apnea	4722	NDUFS3	ORPHA:255241
HP:0002104	Apnea	79133	NDUFAF5	ORPHA:255241
HP:0002104	Apnea	100131801	PET100	ORPHA:255241
HP:0002104	Apnea	1355	COX15	ORPHA:255241
HP:0002104	Apnea	1892	ECHS1	ORPHA:255241
HP:0002104	Apnea	1892	ECHS1	OMIM:616277
HP:0002104	Apnea	123263	MTFMT	ORPHA:255241
HP:0002104	Apnea	51079	NDUFA13	ORPHA:255241
HP:0002104	Apnea	374291	NDUFS7	ORPHA:255241
HP:0002104	Apnea	4705	NDUFA10	ORPHA:255241
HP:0002104	Apnea	51601	LIPT1	ORPHA:255241
HP:0002104	Apnea	4697	NDUFA4	ORPHA:255241
HP:0002104	Apnea	4704	NDUFA9	ORPHA:255241
HP:0002104	Apnea	1376	CPT2	OMIM:608836
HP:0002104	Apnea	54941	RNF125	OMIM:616260
HP:0002104	Apnea	3798	KIF5A	OMIM:617235
HP:0002104	Apnea	5194	PEX13	OMIM:614883
HP:0002104	Apnea	4750	NEK1	ORPHA:2751
HP:0002104	Apnea	3339	HSPG2	ORPHA:800
HP:0002104	Apnea	10210	TOPORS	ORPHA:2754
HP:0002104	Apnea	9851	KIAA0753	ORPHA:2754
HP:0002104	Apnea	26123	TCTN3	ORPHA:2754
HP:0002104	Apnea	5147	PDE6D	ORPHA:2754
HP:0002104	Apnea	8481	OFD1	ORPHA:2754
HP:0002104	Apnea	317662	FAM149B1	ORPHA:2754
HP:0002104	Apnea	374654	KIF7	ORPHA:2754
HP:0002104	Apnea	221927	BRAT1	OMIM:618056
HP:0002104	Apnea	221927	BRAT1	OMIM:614498
HP:0002104	Apnea	667	DST	OMIM:614653
HP:0002104	Apnea	80199	FUZ	ORPHA:1136
HP:0002104	Apnea	27429	HTRA2	OMIM:617248
HP:0002104	Apnea	3329	HSPD1	OMIM:612233
HP:0002104	Apnea	2200	FBN1	ORPHA:2462
HP:0002104	Apnea	498	ATP5F1A	OMIM:615228
HP:0002104	Apnea	5813	PURA	ORPHA:314655
HP:0002104	Apnea	8367	H4C5	OMIM:619950
HP:0002104	Apnea	57003	CCDC47	OMIM:618268
HP:0002104	Apnea	1763	DNA2	OMIM:615156
HP:0002104	Apnea	1763	DNA2	ORPHA:352470
HP:0002104	Apnea	23126	POGZ	OMIM:616364
HP:0002104	Apnea	23126	POGZ	ORPHA:468678
HP:0002104	Apnea	51604	PIGT	ORPHA:369837
HP:0002104	Apnea	1387	CREBBP	OMIM:180849
HP:0002104	Apnea	1387	CREBBP	ORPHA:353281
HP:0002104	Apnea	1387	CREBBP	ORPHA:353277
HP:0002104	Apnea	2033	EP300	OMIM:180849
HP:0002104	Apnea	2033	EP300	ORPHA:353284
HP:0002104	Apnea	59341	TRPV4	OMIM:606071
HP:0002104	Apnea	7015	TERT	OMIM:614742
HP:0002104	Apnea	23314	SATB2	ORPHA:251028
HP:0002104	Apnea	775	CACNA1C	OMIM:620029
HP:0002104	Apnea	8087	FXR1	OMIM:618822
HP:0002104	Apnea	8087	FXR1	OMIM:618823
HP:0002104	Apnea	1756	DMD	OMIM:310200
HP:0002104	Apnea	259232	NALCN	ORPHA:371364
HP:0002104	Apnea	285175	UNC80	ORPHA:371364
HP:0002104	Apnea	781	CACNA2D1	OMIM:620149
HP:0002104	Apnea	10128	LRPPRC	ORPHA:70472
HP:0002104	Apnea	2887	GRB10	ORPHA:96182
HP:0002104	Apnea	51611	DPH5	OMIM:620070
HP:0002104	Apnea	5575	PRKAR1B	OMIM:619680
HP:0002104	Apnea	6452	SH3BP2	ORPHA:184
HP:0002104	Apnea	4854	NOTCH3	OMIM:130720
HP:0002104	Apnea	7750	ZMYM2	OMIM:619522
HP:0002104	Apnea	9578	CDC42BPB	OMIM:619841
HP:0002104	Apnea	283489	CHAMP1	OMIM:616579
HP:0002104	Apnea	27245	AHDC1	ORPHA:412069
HP:0002104	Apnea	27245	AHDC1	OMIM:615829
HP:0002104	Apnea	6492	SIM1	ORPHA:398079
HP:0002104	Apnea	55768	NGLY1	ORPHA:404454
HP:0002104	Apnea	6638	SNRPN	ORPHA:98754
HP:0002104	Apnea	6638	SNRPN	ORPHA:177904
HP:0002104	Apnea	6638	SNRPN	ORPHA:177901
HP:0002104	Apnea	4692	NDN	ORPHA:98754
HP:0002104	Apnea	4692	NDN	ORPHA:177904
HP:0002104	Apnea	4692	NDN	ORPHA:177901
HP:0002104	Apnea	54551	MAGEL2	ORPHA:98754
HP:0002104	Apnea	54551	MAGEL2	ORPHA:177904
HP:0002104	Apnea	54551	MAGEL2	ORPHA:177901
HP:0002104	Apnea	54551	MAGEL2	ORPHA:398069
HP:0002104	Apnea	4948	OCA2	ORPHA:98754
HP:0002104	Apnea	4948	OCA2	ORPHA:177904
HP:0002104	Apnea	4948	OCA2	ORPHA:177901
HP:0002104	Apnea	79158	GNPTAB	ORPHA:576
HP:0002104	Apnea	23299	BICD2	OMIM:615290
HP:0002104	Apnea	6497	SKI	OMIM:182212
HP:0002104	Apnea	4841	NONO	ORPHA:466791
HP:0002104	Apnea	4784	NFIX	OMIM:602535
HP:0002104	Apnea	8888	MCM3AP	OMIM:618124
HP:0002104	Apnea	112939	NACC1	OMIM:617393
HP:0002104	Apnea	3423	IDS	OMIM:309900
HP:0002104	Apnea	650	BMP2	OMIM:617877
HP:0002104	Apnea	57479	PRR12	OMIM:619539
HP:0002104	Apnea	2990	GUSB	OMIM:253220
HP:0002104	Apnea	23219	FBXO28	OMIM:619777
HP:0002104	Apnea	1513	CTSK	ORPHA:763
HP:0002104	Apnea	2261	FGFR3	ORPHA:15
HP:0002104	Apnea	7703	PCGF2	OMIM:618371
HP:0002104	Apnea	9401	RECQL4	OMIM:218600
HP:0002104	Apnea	171023	ASXL1	ORPHA:97297
HP:0002104	Apnea	4340	MOG	OMIM:614250
HP:0002104	Apnea	372	ARCN1	OMIM:617164
HP:0002104	Apnea	2902	GRIN1	OMIM:614254
HP:0002104	Apnea	1822	ATN1	OMIM:618494
HP:0002104	Apnea	1642	DDB1	OMIM:619426
HP:0002104	Apnea	55770	EXOC2	OMIM:619306
HP:0002104	Apnea	1906	EDN1	ORPHA:137888
HP:0002104	Apnea	5332	PLCB4	ORPHA:137888
HP:0002104	Apnea	2773	GNAI3	ORPHA:137888
HP:0002104	Apnea	9230	RAB11B	OMIM:617807
HP:0002104	Apnea	3265	HRAS	OMIM:218040
HP:0002104	Apnea	3425	IDUA	OMIM:607016
HP:0002104	Apnea	3425	IDUA	OMIM:607015
HP:0002104	Apnea	760	CA2	ORPHA:2785
HP:0002104	Apnea	9895	TECPR2	ORPHA:320385
HP:0002104	Apnea	9895	TECPR2	OMIM:615031
HP:0002104	Apnea	2260	FGFR1	ORPHA:220386
HP:0002104	Apnea	2260	FGFR1	ORPHA:93924
HP:0002104	Apnea	28514	DLL1	ORPHA:220386
HP:0002104	Apnea	28514	DLL1	ORPHA:93926
HP:0002104	Apnea	28514	DLL1	ORPHA:93924
HP:0002104	Apnea	28514	DLL1	ORPHA:93925
HP:0002104	Apnea	10735	STAG2	ORPHA:220386
HP:0002104	Apnea	10735	STAG2	ORPHA:93925
HP:0002104	Apnea	2253	FGF8	ORPHA:220386
HP:0002104	Apnea	2253	FGF8	ORPHA:93926
HP:0002104	Apnea	2253	FGF8	ORPHA:93924
HP:0002104	Apnea	2253	FGF8	ORPHA:93925
HP:0002104	Apnea	8243	SMC1A	ORPHA:220386
HP:0002104	Apnea	6496	SIX3	ORPHA:220386
HP:0002104	Apnea	6496	SIX3	ORPHA:93926
HP:0002104	Apnea	6496	SIX3	ORPHA:93924
HP:0002104	Apnea	6496	SIX3	ORPHA:93925
HP:0002104	Apnea	7050	TGIF1	ORPHA:220386
HP:0002104	Apnea	7050	TGIF1	ORPHA:93926
HP:0002104	Apnea	7050	TGIF1	ORPHA:93924
HP:0002104	Apnea	7050	TGIF1	ORPHA:93925
HP:0002104	Apnea	4838	NODAL	ORPHA:220386
HP:0002104	Apnea	4838	NODAL	ORPHA:93926
HP:0002104	Apnea	4838	NODAL	ORPHA:93924
HP:0002104	Apnea	4838	NODAL	ORPHA:93925
HP:0002104	Apnea	6469	SHH	ORPHA:220386
HP:0002104	Apnea	6469	SHH	ORPHA:93926
HP:0002104	Apnea	6469	SHH	ORPHA:93924
HP:0002104	Apnea	6469	SHH	ORPHA:93925
HP:0002104	Apnea	7546	ZIC2	ORPHA:220386
HP:0002104	Apnea	7546	ZIC2	ORPHA:93926
HP:0002104	Apnea	7546	ZIC2	ORPHA:93924
HP:0002104	Apnea	7546	ZIC2	ORPHA:93925
HP:0002104	Apnea	6491	STIL	ORPHA:220386
HP:0002104	Apnea	6491	STIL	ORPHA:93926
HP:0002104	Apnea	6491	STIL	ORPHA:93924
HP:0002104	Apnea	6491	STIL	ORPHA:93925
HP:0002104	Apnea	2619	GAS1	ORPHA:220386
HP:0002104	Apnea	2619	GAS1	ORPHA:93926
HP:0002104	Apnea	2619	GAS1	ORPHA:93924
HP:0002104	Apnea	2619	GAS1	ORPHA:93925
HP:0002104	Apnea	84976	DISP1	ORPHA:220386
HP:0002104	Apnea	84976	DISP1	ORPHA:93926
HP:0002104	Apnea	84976	DISP1	ORPHA:93924
HP:0002104	Apnea	84976	DISP1	ORPHA:93925
HP:0002104	Apnea	2736	GLI2	ORPHA:220386
HP:0002104	Apnea	2736	GLI2	ORPHA:93926
HP:0002104	Apnea	2736	GLI2	ORPHA:93924
HP:0002104	Apnea	2736	GLI2	ORPHA:93925
HP:0002104	Apnea	8928	FOXH1	ORPHA:220386
HP:0002104	Apnea	8928	FOXH1	ORPHA:93926
HP:0002104	Apnea	8928	FOXH1	ORPHA:93924
HP:0002104	Apnea	8928	FOXH1	ORPHA:93925
HP:0002104	Apnea	5727	PTCH1	ORPHA:220386
HP:0002104	Apnea	5727	PTCH1	ORPHA:93926
HP:0002104	Apnea	5727	PTCH1	ORPHA:93924
HP:0002104	Apnea	5727	PTCH1	ORPHA:93925
HP:0002104	Apnea	50937	CDON	ORPHA:220386
HP:0002104	Apnea	50937	CDON	ORPHA:93926
HP:0002104	Apnea	50937	CDON	ORPHA:93924
HP:0002104	Apnea	50937	CDON	ORPHA:93925
HP:0002104	Apnea	54902	TTC19	OMIM:615157
HP:0002104	Apnea	80184	CEP290	OMIM:610188
HP:0002104	Apnea	51259	TMEM216	OMIM:608091
HP:0002104	Apnea	56623	INPP5E	OMIM:213300
HP:0002104	Apnea	493856	CISD2	ORPHA:3463
HP:0002104	Apnea	7466	WFS1	ORPHA:3463
HP:0002104	Apnea	415	ARSL	ORPHA:79345
HP:0002104	Apnea	54806	AHI1	OMIM:608629
HP:0002104	Apnea	283989	TSEN54	ORPHA:166063
HP:0002104	Apnea	6857	SYT1	ORPHA:522077
HP:0002104	Apnea	23322	RPGRIP1L	OMIM:611560
HP:0002104	Apnea	478	ATP1A3	OMIM:619606
HP:0002104	Apnea	23007	PLCH1	ORPHA:93925
HP:0002104	Apnea	10716	TBR1	ORPHA:1617
HP:0002104	Apnea	5660	PSAP	OMIM:611722
HP:0002104	Apnea	6513	SLC2A1	ORPHA:71277
HP:0002104	Apnea	1103	CHAT	OMIM:254210
HP:0002104	Apnea	1103	CHAT	ORPHA:98914
HP:0002104	Apnea	60482	SLC5A7	ORPHA:98914
HP:0002104	Apnea	4649	MYO9A	ORPHA:98914
HP:0002104	Apnea	1305	COL13A1	ORPHA:98914
HP:0002104	Apnea	6576	SLC25A1	ORPHA:98914
HP:0002104	Apnea	6843	VAMP1	ORPHA:98914
HP:0002104	Apnea	375790	AGRN	ORPHA:98914
HP:0002104	Apnea	127833	SYT2	ORPHA:98914
HP:0002104	Apnea	6572	SLC18A3	ORPHA:98914
HP:0002104	Apnea	6616	SNAP25	ORPHA:98914
HP:0002104	Apnea	1145	CHRNE	OMIM:605809
HP:0002104	Apnea	5160	PDHA1	OMIM:312170
HP:0002104	Apnea	6792	CDKL5	ORPHA:3095
HP:0002104	Apnea	22854	NTNG1	ORPHA:3095
HP:0002104	Apnea	9568	GABBR2	ORPHA:3095
HP:0002104	Apnea	4204	MECP2	ORPHA:3095
HP:0002104	Apnea	64116	SLC39A8	ORPHA:468699
HP:0002104	Apnea	10667	FARS2	ORPHA:466722
HP:0002104	Apnea	788	SLC25A20	ORPHA:159
HP:0002104	Apnea	2258	FGF13	OMIM:301058
HP:0002104	Apnea	4728	NDUFS8	OMIM:618222
HP:0002104	Apnea	57545	CC2D2A	OMIM:619111
HP:0002104	Apnea	6329	SCN4A	OMIM:608390
HP:0002104	Apnea	9200	HACD1	OMIM:619967
HP:0002104	Apnea	36	ACADSB	OMIM:610006
HP:0002104	Apnea	8398	PLA2G6	ORPHA:35069
HP:0002104	Apnea	6331	SCN5A	OMIM:272120
HP:0002104	Apnea	2203	FBP1	ORPHA:348
HP:0002104	Apnea	7291	TWIST1	ORPHA:794
HP:0002104	Apnea	2263	FGFR2	ORPHA:794
HP:0002104	Apnea	2263	FGFR2	OMIM:123500
HP:0002104	Apnea	2615	LRRC32	OMIM:619074
HP:0002104	Apnea	6197	RPS6KA3	ORPHA:192
HP:0002104	Apnea	54892	NCAPG2	OMIM:618460
HP:0002104	Apnea	2132	EXT2	OMIM:616682
HP:0002104	Apnea	26005	C2CD3	ORPHA:434179
HP:0002104	Apnea	27125	AFF4	OMIM:616368
HP:0002104	Apnea	27125	AFF4	ORPHA:444077
HP:0002104	Apnea	10060	ABCC9	OMIM:619719
HP:0002104	Apnea	8405	SPOP	OMIM:618829
HP:0002104	Apnea	7681	MKRN3	OMIM:176270
HP:0002104	Apnea	3653	IPW	OMIM:176270
HP:0002104	Apnea	791114	PWRN1	OMIM:176270
HP:0002104	Apnea	100033413	SNORD116-1	OMIM:176270
HP:0002104	Apnea	8924	HERC2	OMIM:176270
HP:0002104	Apnea	145624	PWAR1	OMIM:176270
HP:0002104	Apnea	23742	NPAP1	OMIM:176270
HP:0002104	Apnea	338433	SNORD115-1	OMIM:176270
HP:0002104	Apnea	6925	TCF4	ORPHA:2896
HP:0002104	Apnea	411	ARSB	OMIM:253200
HP:0002104	Apnea	2934	GSN	ORPHA:85448
HP:0002104	Apnea	65993	MRPS34	OMIM:617664
HP:0002104	Apnea	9442	MED27	OMIM:619286
HP:0002104	Apnea	473	RERE	OMIM:616975
HP:0002104	Apnea	8292	COLQ	ORPHA:98915
HP:0002104	Apnea	3913	LAMB2	ORPHA:98915
HP:0002104	Apnea	51341	ZBTB7A	OMIM:619769
HP:0002104	Apnea	10743	RAI1	ORPHA:1713
HP:0002104	Apnea	10020	GNE	OMIM:269921
HP:0002104	Apnea	10020	GNE	ORPHA:3166
HP:0002104	Apnea	738	VPS51	OMIM:618606
HP:0002104	Apnea	201163	FLCN	OMIM:610883
HP:0002104	Apnea	51574	LARP7	ORPHA:319671
HP:0002104	Apnea	2903	GRIN2A	ORPHA:1945
HP:0002104	Apnea	2566	GABRG2	ORPHA:1945
HP:0002104	Apnea	83550	GPR101	ORPHA:963
HP:0002104	Apnea	83550	GPR101	OMIM:300942
HP:0002104	Apnea	9049	AIP	ORPHA:963
HP:0002104	Apnea	1281	COL3A1	ORPHA:286
HP:0002104	Apnea	54681	P4HTM	OMIM:618493
HP:0002104	Apnea	860	RUNX2	ORPHA:1452
HP:0002104	Apnea	25942	SIN3A	OMIM:613406
HP:0002104	Apnea	6647	SOD1	OMIM:105400
HP:0002104	Apnea	5630	PRPH	OMIM:105400
HP:0002104	Apnea	1639	DCTN1	OMIM:105400
HP:0002104	Apnea	4744	NEFH	OMIM:105400
HP:0002104	Apnea	54496	PRMT7	ORPHA:464288
HP:0002104	Apnea	1801	DPH1	ORPHA:459061
HP:0002104	Apnea	4054	LTBP3	OMIM:617809
HP:0002104	Apnea	1499	CTNNB1	ORPHA:54595
HP:0002104	Apnea	673	BRAF	ORPHA:54595
HP:0002104	Apnea	22943	DKK1	ORPHA:268882
HP:0002104	Apnea	7874	USP7	OMIM:616863
HP:0002104	Apnea	133686	NADK2	ORPHA:431361
HP:0002104	Apnea	27235	COQ2	ORPHA:227510
HP:0002104	Apnea	27235	COQ2	ORPHA:98933
HP:0002104	Apnea	5631	PRPS1	ORPHA:423479
HP:0002104	Apnea	8621	CDK13	OMIM:617360
HP:0002104	Apnea	8911	CACNA1I	OMIM:620114
HP:0002104	Apnea	5979	RET	ORPHA:99803
HP:0002104	Apnea	429	ASCL1	ORPHA:99803
HP:0002104	Apnea	8929	PHOX2B	ORPHA:99803
HP:0002105	Hemoptysis	5265	SERPINA1	OMIM:613490
HP:0002105	Hemoptysis	5265	SERPINA1	ORPHA:586
HP:0002105	Hemoptysis	6340	SCNN1G	ORPHA:60033
HP:0002105	Hemoptysis	1080	CFTR	ORPHA:60033
HP:0002105	Hemoptysis	1080	CFTR	ORPHA:586
HP:0002105	Hemoptysis	1080	CFTR	OMIM:219700
HP:0002105	Hemoptysis	6337	SCNN1A	ORPHA:60033
HP:0002105	Hemoptysis	6338	SCNN1B	ORPHA:60033
HP:0002105	Hemoptysis	3123	HLA-DRB1	ORPHA:747
HP:0002105	Hemoptysis	3123	HLA-DRB1	OMIM:181000
HP:0002105	Hemoptysis	3123	HLA-DRB1	ORPHA:797
HP:0002105	Hemoptysis	1493	CTLA4	ORPHA:900
HP:0002105	Hemoptysis	26191	PTPN22	ORPHA:900
HP:0002105	Hemoptysis	3115	HLA-DPB1	ORPHA:900
HP:0002105	Hemoptysis	5657	PRTN3	ORPHA:900
HP:0002105	Hemoptysis	3113	HLA-DPA1	ORPHA:900
HP:0002105	Hemoptysis	1776	DNASE1L3	ORPHA:36412
HP:0002105	Hemoptysis	6804	STX1A	ORPHA:586
HP:0002105	Hemoptysis	2947	GSTM3	ORPHA:586
HP:0002105	Hemoptysis	7040	TGFB1	ORPHA:586
HP:0002105	Hemoptysis	7040	TGFB1	OMIM:219700
HP:0002105	Hemoptysis	2729	GCLC	ORPHA:586
HP:0002105	Hemoptysis	1084	CEACAM3	ORPHA:586
HP:0002105	Hemoptysis	6556	SLC11A1	ORPHA:586
HP:0002105	Hemoptysis	51164	DCTN4	ORPHA:586
HP:0002105	Hemoptysis	3783	KCNN4	ORPHA:586
HP:0002105	Hemoptysis	4282	MIF	ORPHA:586
HP:0002105	Hemoptysis	1909	EDNRA	ORPHA:586
HP:0002105	Hemoptysis	6550	SLC9A3	ORPHA:586
HP:0002105	Hemoptysis	3162	HMOX1	ORPHA:586
HP:0002105	Hemoptysis	115019	SLC26A9	ORPHA:586
HP:0002105	Hemoptysis	3077	HFE	ORPHA:586
HP:0002105	Hemoptysis	11254	SLC6A14	ORPHA:586
HP:0002105	Hemoptysis	22802	CLCA4	ORPHA:586
HP:0002105	Hemoptysis	4680	CEACAM6	ORPHA:586
HP:0002105	Hemoptysis	1289	COL5A1	OMIM:130000
HP:0002105	Hemoptysis	7248	TSC1	ORPHA:538
HP:0002105	Hemoptysis	7248	TSC1	ORPHA:805
HP:0002105	Hemoptysis	7249	TSC2	ORPHA:538
HP:0002105	Hemoptysis	7249	TSC2	ORPHA:805
HP:0002105	Hemoptysis	1281	COL3A1	OMIM:130050
HP:0002105	Hemoptysis	1281	COL3A1	ORPHA:286
HP:0002105	Hemoptysis	2658	GDF2	ORPHA:774
HP:0002105	Hemoptysis	94	ACVRL1	ORPHA:774
HP:0002105	Hemoptysis	4089	SMAD4	ORPHA:774
HP:0002105	Hemoptysis	4089	SMAD4	ORPHA:91387
HP:0002105	Hemoptysis	2022	ENG	ORPHA:774
HP:0002105	Hemoptysis	2022	ENG	OMIM:187300
HP:0002105	Hemoptysis	2212	FCGR2A	OMIM:219700
HP:0002105	Hemoptysis	1290	COL5A2	OMIM:130010
HP:0002105	Hemoptysis	56244	BTNL2	OMIM:612387
HP:0002105	Hemoptysis	56244	BTNL2	ORPHA:797
HP:0002105	Hemoptysis	3458	IFNG	ORPHA:805
HP:0002105	Hemoptysis	3593	IL12B	ORPHA:3287
HP:0002105	Hemoptysis	3106	HLA-B	ORPHA:3287
HP:0002105	Hemoptysis	3106	HLA-B	ORPHA:117
HP:0002105	Hemoptysis	6945	MLX	ORPHA:3287
HP:0002105	Hemoptysis	2153	F5	ORPHA:326
HP:0002105	Hemoptysis	440275	EIF2AK4	ORPHA:199241
HP:0002105	Hemoptysis	10568	SLC34A2	ORPHA:60025
HP:0002105	Hemoptysis	93233	ODAD1	OMIM:615067
HP:0002105	Hemoptysis	55340	GIMAP5	OMIM:619463
HP:0002105	Hemoptysis	84818	IL17RC	ORPHA:1334
HP:0002105	Hemoptysis	64581	CLEC7A	ORPHA:1334
HP:0002105	Hemoptysis	23765	IL17RA	ORPHA:1334
HP:0002105	Hemoptysis	10758	TRAF3IP2	ORPHA:1334
HP:0002105	Hemoptysis	112744	IL17F	ORPHA:1334
HP:0002105	Hemoptysis	4629	MYH11	ORPHA:91387
HP:0002105	Hemoptysis	7046	TGFBR1	ORPHA:91387
HP:0002105	Hemoptysis	7048	TGFBR2	ORPHA:91387
HP:0002105	Hemoptysis	4015	LOX	ORPHA:91387
HP:0002105	Hemoptysis	4087	SMAD2	ORPHA:91387
HP:0002105	Hemoptysis	7043	TGFB3	ORPHA:91387
HP:0002105	Hemoptysis	4088	SMAD3	ORPHA:91387
HP:0002105	Hemoptysis	7042	TGFB2	ORPHA:91387
HP:0002105	Hemoptysis	2200	FBN1	ORPHA:91387
HP:0002105	Hemoptysis	59	ACTA2	ORPHA:91387
HP:0002105	Hemoptysis	5592	PRKG1	ORPHA:91387
HP:0002105	Hemoptysis	2301	FOXE3	ORPHA:91387
HP:0002105	Hemoptysis	4144	MAT2A	ORPHA:91387
HP:0002105	Hemoptysis	23493	HEY2	ORPHA:91387
HP:0002105	Hemoptysis	8076	MFAP5	ORPHA:91387
HP:0002105	Hemoptysis	4638	MYLK	ORPHA:91387
HP:0002105	Hemoptysis	2006	ELN	ORPHA:91387
HP:0002105	Hemoptysis	7092	TLL1	ORPHA:99106
HP:0002105	Hemoptysis	149233	IL23R	ORPHA:117
HP:0002105	Hemoptysis	6775	STAT4	ORPHA:117
HP:0002105	Hemoptysis	3586	IL10	ORPHA:117
HP:0002105	Hemoptysis	4210	MEFV	ORPHA:117
HP:0002105	Hemoptysis	1230	CCR1	ORPHA:117
HP:0002105	Hemoptysis	355	FAS	ORPHA:117
HP:0002105	Hemoptysis	3592	IL12A	ORPHA:117
HP:0002105	Hemoptysis	101928376	IL12A-AS1	ORPHA:117
HP:0002105	Hemoptysis	7099	TLR4	ORPHA:117
HP:0002105	Hemoptysis	3459	IFNGR1	ORPHA:117
HP:0002105	Hemoptysis	720	C4A	ORPHA:117
HP:0002105	Hemoptysis	337867	UBAC2	ORPHA:117
HP:0002105	Hemoptysis	51752	ERAP1	ORPHA:117
HP:0002105	Hemoptysis	8302	KLRC4	ORPHA:117
HP:0002107	Pneumothorax	2200	FBN1	OMIM:154700
HP:0002107	Pneumothorax	2200	FBN1	ORPHA:91387
HP:0002107	Pneumothorax	10526	IPO8	OMIM:619472
HP:0002107	Pneumothorax	113189	CHST14	ORPHA:2953
HP:0002107	Pneumothorax	113189	CHST14	OMIM:601776
HP:0002107	Pneumothorax	29940	DSE	ORPHA:2953
HP:0002107	Pneumothorax	10352	WARS2	OMIM:619738
HP:0002107	Pneumothorax	29957	SLC25A24	OMIM:612289
HP:0002107	Pneumothorax	4088	SMAD3	OMIM:613795
HP:0002107	Pneumothorax	4088	SMAD3	ORPHA:91387
HP:0002107	Pneumothorax	56244	BTNL2	OMIM:612387
HP:0002107	Pneumothorax	56244	BTNL2	ORPHA:797
HP:0002107	Pneumothorax	4052	LTBP1	ORPHA:90349
HP:0002107	Pneumothorax	30008	EFEMP2	ORPHA:90349
HP:0002107	Pneumothorax	10516	FBLN5	ORPHA:90349
HP:0002107	Pneumothorax	79770	TXNDC15	OMIM:619879
HP:0002107	Pneumothorax	81570	CLPB	ORPHA:445038
HP:0002107	Pneumothorax	2131	EXT1	ORPHA:321
HP:0002107	Pneumothorax	2132	EXT2	ORPHA:321
HP:0002107	Pneumothorax	3909	LAMA3	ORPHA:79404
HP:0002107	Pneumothorax	3918	LAMC2	ORPHA:79404
HP:0002107	Pneumothorax	3914	LAMB3	ORPHA:79404
HP:0002107	Pneumothorax	6804	STX1A	ORPHA:586
HP:0002107	Pneumothorax	2947	GSTM3	ORPHA:586
HP:0002107	Pneumothorax	7040	TGFB1	ORPHA:586
HP:0002107	Pneumothorax	2729	GCLC	ORPHA:586
HP:0002107	Pneumothorax	1084	CEACAM3	ORPHA:586
HP:0002107	Pneumothorax	6556	SLC11A1	ORPHA:586
HP:0002107	Pneumothorax	51164	DCTN4	ORPHA:586
HP:0002107	Pneumothorax	3783	KCNN4	ORPHA:586
HP:0002107	Pneumothorax	4282	MIF	ORPHA:586
HP:0002107	Pneumothorax	1909	EDNRA	ORPHA:586
HP:0002107	Pneumothorax	6550	SLC9A3	ORPHA:586
HP:0002107	Pneumothorax	3162	HMOX1	ORPHA:586
HP:0002107	Pneumothorax	115019	SLC26A9	ORPHA:586
HP:0002107	Pneumothorax	3077	HFE	ORPHA:586
HP:0002107	Pneumothorax	11254	SLC6A14	ORPHA:586
HP:0002107	Pneumothorax	5265	SERPINA1	ORPHA:586
HP:0002107	Pneumothorax	1080	CFTR	ORPHA:586
HP:0002107	Pneumothorax	22802	CLCA4	ORPHA:586
HP:0002107	Pneumothorax	4680	CEACAM6	ORPHA:586
HP:0002107	Pneumothorax	10568	SLC34A2	ORPHA:60025
HP:0002107	Pneumothorax	4921	DDR2	OMIM:618175
HP:0002107	Pneumothorax	523	ATP6V1A	OMIM:617403
HP:0002107	Pneumothorax	529	ATP6V1E1	OMIM:617402
HP:0002107	Pneumothorax	7248	TSC1	ORPHA:538
HP:0002107	Pneumothorax	7249	TSC2	ORPHA:538
HP:0002107	Pneumothorax	7042	TGFB2	OMIM:614816
HP:0002107	Pneumothorax	7042	TGFB2	ORPHA:91387
HP:0002107	Pneumothorax	3265	HRAS	OMIM:218040
HP:0002107	Pneumothorax	4629	MYH11	ORPHA:91387
HP:0002107	Pneumothorax	7046	TGFBR1	ORPHA:91387
HP:0002107	Pneumothorax	4015	LOX	ORPHA:91387
HP:0002107	Pneumothorax	4087	SMAD2	ORPHA:91387
HP:0002107	Pneumothorax	7043	TGFB3	ORPHA:91387
HP:0002107	Pneumothorax	4089	SMAD4	ORPHA:91387
HP:0002107	Pneumothorax	59	ACTA2	ORPHA:91387
HP:0002107	Pneumothorax	5592	PRKG1	ORPHA:91387
HP:0002107	Pneumothorax	2301	FOXE3	ORPHA:91387
HP:0002107	Pneumothorax	4144	MAT2A	ORPHA:91387
HP:0002107	Pneumothorax	23493	HEY2	ORPHA:91387
HP:0002107	Pneumothorax	8076	MFAP5	ORPHA:91387
HP:0002107	Pneumothorax	4638	MYLK	ORPHA:91387
HP:0002107	Pneumothorax	2006	ELN	ORPHA:91387
HP:0002107	Pneumothorax	3123	HLA-DRB1	ORPHA:797
HP:0002107	Pneumothorax	1281	COL3A1	OMIM:130050
HP:0002107	Pneumothorax	79875	THSD4	OMIM:619825
HP:0002107	Pneumothorax	857	CAV1	OMIM:606721
HP:0002107	Pneumothorax	7048	TGFBR2	OMIM:610168
HP:0002107	Pneumothorax	201163	FLCN	OMIM:135150
HP:0002107	Pneumothorax	201163	FLCN	OMIM:173600
HP:0002107	Pneumothorax	199221	DZIP1L	ORPHA:731
HP:0002107	Pneumothorax	5314	PKHD1	ORPHA:731
HP:0002107	Pneumothorax	6440	SFTPC	OMIM:610913
HP:0002107	Pneumothorax	9508	ADAMTS3	OMIM:618154
HP:0002107	Pneumothorax	6439	SFTPB	ORPHA:217563
HP:0002107	Pneumothorax	9509	ADAMTS2	OMIM:225410
HP:0002107	Pneumothorax	25	ABL1	OMIM:617602
HP:0002107	Pneumothorax	126792	B3GALT6	ORPHA:536467
HP:0002108	Spontaneous pneumothorax	1281	COL3A1	OMIM:130050
HP:0002108	Spontaneous pneumothorax	79875	THSD4	OMIM:619825
HP:0002108	Spontaneous pneumothorax	857	CAV1	OMIM:606721
HP:0002108	Spontaneous pneumothorax	7048	TGFBR2	OMIM:610168
HP:0002108	Spontaneous pneumothorax	201163	FLCN	OMIM:135150
HP:0002108	Spontaneous pneumothorax	201163	FLCN	OMIM:173600
HP:0002108	Spontaneous pneumothorax	199221	DZIP1L	ORPHA:731
HP:0002108	Spontaneous pneumothorax	5314	PKHD1	ORPHA:731
HP:0002108	Spontaneous pneumothorax	6440	SFTPC	OMIM:610913
HP:0002108	Spontaneous pneumothorax	9508	ADAMTS3	OMIM:618154
HP:0002108	Spontaneous pneumothorax	6439	SFTPB	ORPHA:217563
HP:0002108	Spontaneous pneumothorax	9509	ADAMTS2	OMIM:225410
HP:0025426	Abnormal bronchus morphology	139212	DNAAF6	OMIM:300991
HP:0025426	Abnormal bronchus morphology	139212	DNAAF6	ORPHA:244
HP:0025426	Abnormal bronchus morphology	85016	CFAP300	OMIM:618063
HP:0025426	Abnormal bronchus morphology	85016	CFAP300	ORPHA:244
HP:0025426	Abnormal bronchus morphology	83538	ODAD4	OMIM:617092
HP:0025426	Abnormal bronchus morphology	83538	ODAD4	ORPHA:244
HP:0025426	Abnormal bronchus morphology	695	BTK	OMIM:300755
HP:0025426	Abnormal bronchus morphology	3071	NCKAP1L	OMIM:618982
HP:0025426	Abnormal bronchus morphology	10309	CCNO	OMIM:615872
HP:0025426	Abnormal bronchus morphology	10309	CCNO	ORPHA:244
HP:0025426	Abnormal bronchus morphology	5238	PGM3	ORPHA:443811
HP:0025426	Abnormal bronchus morphology	5238	PGM3	OMIM:615816
HP:0025426	Abnormal bronchus morphology	1080	CFTR	OMIM:211400
HP:0025426	Abnormal bronchus morphology	1080	CFTR	OMIM:219700
HP:0025426	Abnormal bronchus morphology	1080	CFTR	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	1080	CFTR	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6338	SCNN1B	OMIM:211400
HP:0025426	Abnormal bronchus morphology	6338	SCNN1B	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	27148	STK36	OMIM:619436
HP:0025426	Abnormal bronchus morphology	27148	STK36	ORPHA:244
HP:0025426	Abnormal bronchus morphology	5880	RAC2	OMIM:618986
HP:0025426	Abnormal bronchus morphology	5293	PIK3CD	OMIM:615513
HP:0025426	Abnormal bronchus morphology	987	LRBA	OMIM:614700
HP:0025426	Abnormal bronchus morphology	8737	RIPK1	OMIM:618108
HP:0025426	Abnormal bronchus morphology	345895	RSPH4A	OMIM:612649
HP:0025426	Abnormal bronchus morphology	345895	RSPH4A	ORPHA:244
HP:0025426	Abnormal bronchus morphology	9094	UNC119	OMIM:615518
HP:0025426	Abnormal bronchus morphology	89765	RSPH1	OMIM:615481
HP:0025426	Abnormal bronchus morphology	89765	RSPH1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	161582	DNAAF4	OMIM:615482
HP:0025426	Abnormal bronchus morphology	161582	DNAAF4	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6809	STX3	OMIM:619445
HP:0025426	Abnormal bronchus morphology	6809	STX3	OMIM:619446
HP:0025426	Abnormal bronchus morphology	9948	WDR1	OMIM:150550
HP:0025426	Abnormal bronchus morphology	221421	RSPH9	OMIM:612650
HP:0025426	Abnormal bronchus morphology	221421	RSPH9	ORPHA:244
HP:0025426	Abnormal bronchus morphology	388389	CCDC103	OMIM:614679
HP:0025426	Abnormal bronchus morphology	388389	CCDC103	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1767	DNAH5	OMIM:608644
HP:0025426	Abnormal bronchus morphology	1767	DNAH5	ORPHA:244
HP:0025426	Abnormal bronchus morphology	8382	NME5	OMIM:620032
HP:0025426	Abnormal bronchus morphology	2212	FCGR2A	OMIM:219700
HP:0025426	Abnormal bronchus morphology	7040	TGFB1	OMIM:219700
HP:0025426	Abnormal bronchus morphology	7040	TGFB1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6340	SCNN1G	OMIM:613071
HP:0025426	Abnormal bronchus morphology	6340	SCNN1G	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	6772	STAT1	OMIM:614162
HP:0025426	Abnormal bronchus morphology	6772	STAT1	ORPHA:391487
HP:0025426	Abnormal bronchus morphology	54453	RIN2	OMIM:613075
HP:0025426	Abnormal bronchus morphology	1493	CTLA4	OMIM:616100
HP:0025426	Abnormal bronchus morphology	3394	IRF8	OMIM:226990
HP:0025426	Abnormal bronchus morphology	10379	IRF9	OMIM:618648
HP:0025426	Abnormal bronchus morphology	7852	CXCR4	OMIM:193670
HP:0025426	Abnormal bronchus morphology	7852	CXCR4	ORPHA:51636
HP:0025426	Abnormal bronchus morphology	56244	BTNL2	OMIM:612387
HP:0025426	Abnormal bronchus morphology	56244	BTNL2	ORPHA:797
HP:0025426	Abnormal bronchus morphology	5426	POLE	OMIM:615139
HP:0025426	Abnormal bronchus morphology	54970	TTC12	OMIM:618801
HP:0025426	Abnormal bronchus morphology	54970	TTC12	ORPHA:244
HP:0025426	Abnormal bronchus morphology	729238	SFTPA2	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	79991	STN1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	653509	SFTPA1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	1832	DSP	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	727897	MUC5B	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	10144	FAM13A	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	23250	ATP11A	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	91039	DPP9	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	51750	RTEL1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	7012	TERC	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	5073	PARN	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	7015	TERT	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	219972	MPEG1	OMIM:619223
HP:0025426	Abnormal bronchus morphology	567	B2M	OMIM:241600
HP:0025426	Abnormal bronchus morphology	7161	TP73	OMIM:619466
HP:0025426	Abnormal bronchus morphology	254428	SLC41A1	OMIM:619468
HP:0025426	Abnormal bronchus morphology	7174	TPP2	OMIM:619220
HP:0025426	Abnormal bronchus morphology	146206	CARMIL2	OMIM:618131
HP:0025426	Abnormal bronchus morphology	4700	NDUFA6	OMIM:618253
HP:0025426	Abnormal bronchus morphology	115399	LRRC56	OMIM:618254
HP:0025426	Abnormal bronchus morphology	115399	LRRC56	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1729	DIAPH1	OMIM:616632
HP:0025426	Abnormal bronchus morphology	10125	RASGRP1	OMIM:618534
HP:0025426	Abnormal bronchus morphology	3123	HLA-DRB1	ORPHA:797
HP:0025426	Abnormal bronchus morphology	3123	HLA-DRB1	OMIM:181000
HP:0025426	Abnormal bronchus morphology	55036	CCDC40	OMIM:613808
HP:0025426	Abnormal bronchus morphology	55036	CCDC40	ORPHA:244
HP:0025426	Abnormal bronchus morphology	339829	CCDC39	OMIM:613807
HP:0025426	Abnormal bronchus morphology	339829	CCDC39	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1789	DNMT3B	OMIM:242860
HP:0025426	Abnormal bronchus morphology	10043	TOM1	ORPHA:391487
HP:0025426	Abnormal bronchus morphology	83861	RSPH3	OMIM:616481
HP:0025426	Abnormal bronchus morphology	83861	RSPH3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	29775	CARD10	OMIM:619632
HP:0025426	Abnormal bronchus morphology	5265	SERPINA1	OMIM:613490
HP:0025426	Abnormal bronchus morphology	5265	SERPINA1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	152110	NEK10	OMIM:618781
HP:0025426	Abnormal bronchus morphology	152110	NEK10	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6337	SCNN1A	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	6337	SCNN1A	OMIM:613021
HP:0025426	Abnormal bronchus morphology	23568	ARL2BP	OMIM:615434
HP:0025426	Abnormal bronchus morphology	5295	PIK3R1	OMIM:616005
HP:0025426	Abnormal bronchus morphology	5295	PIK3R1	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	25981	DNAH1	OMIM:617577
HP:0025426	Abnormal bronchus morphology	25981	DNAH1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	64446	DNAI2	OMIM:612444
HP:0025426	Abnormal bronchus morphology	64446	DNAI2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	54440	SASH3	OMIM:301082
HP:0025426	Abnormal bronchus morphology	2006	ELN	OMIM:123700
HP:0025426	Abnormal bronchus morphology	2006	ELN	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	55719	SLF2	OMIM:620184
HP:0025426	Abnormal bronchus morphology	3507	IGHM	OMIM:601495
HP:0025426	Abnormal bronchus morphology	3507	IGHM	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	6804	STX1A	ORPHA:586
HP:0025426	Abnormal bronchus morphology	2947	GSTM3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	2729	GCLC	ORPHA:586
HP:0025426	Abnormal bronchus morphology	1084	CEACAM3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6556	SLC11A1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	51164	DCTN4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3783	KCNN4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	4282	MIF	ORPHA:586
HP:0025426	Abnormal bronchus morphology	1909	EDNRA	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6550	SLC9A3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3162	HMOX1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	115019	SLC26A9	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3077	HFE	ORPHA:586
HP:0025426	Abnormal bronchus morphology	11254	SLC6A14	ORPHA:586
HP:0025426	Abnormal bronchus morphology	22802	CLCA4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	4680	CEACAM6	ORPHA:586
HP:0025426	Abnormal bronchus morphology	54790	TET2	OMIM:619126
HP:0025426	Abnormal bronchus morphology	60468	BACH2	OMIM:618394
HP:0025426	Abnormal bronchus morphology	641	BLM	OMIM:210900
HP:0025426	Abnormal bronchus morphology	51364	ZMYND10	OMIM:615444
HP:0025426	Abnormal bronchus morphology	51364	ZMYND10	ORPHA:244
HP:0025426	Abnormal bronchus morphology	50615	IL21R	OMIM:615207
HP:0025426	Abnormal bronchus morphology	8701	DNAH11	OMIM:611884
HP:0025426	Abnormal bronchus morphology	8701	DNAH11	ORPHA:244
HP:0025426	Abnormal bronchus morphology	85452	CFAP74	OMIM:620197
HP:0025426	Abnormal bronchus morphology	925	CD8A	OMIM:608957
HP:0025426	Abnormal bronchus morphology	84905	ZNF341	OMIM:618282
HP:0025426	Abnormal bronchus morphology	11117	EMILIN1	OMIM:620080
HP:0025426	Abnormal bronchus morphology	5422	POLA1	OMIM:301220
HP:0025426	Abnormal bronchus morphology	92749	DRC1	OMIM:615294
HP:0025426	Abnormal bronchus morphology	92749	DRC1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	55130	ODAD2	OMIM:615451
HP:0025426	Abnormal bronchus morphology	55130	ODAD2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	27040	LAT	OMIM:617514
HP:0025426	Abnormal bronchus morphology	10516	FBLN5	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	5832	ALDH18A1	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	84433	CARD11	OMIM:617638
HP:0025426	Abnormal bronchus morphology	246176	GAS2L2	OMIM:618449
HP:0025426	Abnormal bronchus morphology	246176	GAS2L2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	3514	IGKC	ORPHA:183675
HP:0025426	Abnormal bronchus morphology	3501	IGHG2	ORPHA:183675
HP:0025426	Abnormal bronchus morphology	115948	ODAD3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	115948	ODAD3	OMIM:616037
HP:0025426	Abnormal bronchus morphology	352909	DNAAF3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	352909	DNAAF3	OMIM:606763
HP:0025426	Abnormal bronchus morphology	51314	NME8	ORPHA:244
HP:0025426	Abnormal bronchus morphology	8481	OFD1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	2302	FOXJ1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	2302	FOXJ1	OMIM:618699
HP:0025426	Abnormal bronchus morphology	85478	CCDC65	ORPHA:244
HP:0025426	Abnormal bronchus morphology	85478	CCDC65	OMIM:615504
HP:0025426	Abnormal bronchus morphology	6674	SPAG1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6674	SPAG1	OMIM:615505
HP:0025426	Abnormal bronchus morphology	83544	DNAL1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	83544	DNAL1	OMIM:614017
HP:0025426	Abnormal bronchus morphology	200373	CFAP221	ORPHA:244
HP:0025426	Abnormal bronchus morphology	55172	DNAAF2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	23639	DNAAF11	ORPHA:244
HP:0025426	Abnormal bronchus morphology	23639	DNAAF11	OMIM:614935
HP:0025426	Abnormal bronchus morphology	54919	DNAAF5	ORPHA:244
HP:0025426	Abnormal bronchus morphology	93233	ODAD1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	93233	ODAD1	OMIM:615067
HP:0025426	Abnormal bronchus morphology	345643	MCIDAS	ORPHA:244
HP:0025426	Abnormal bronchus morphology	345643	MCIDAS	OMIM:618695
HP:0025426	Abnormal bronchus morphology	56683	CFAP298	ORPHA:244
HP:0025426	Abnormal bronchus morphology	56683	CFAP298	OMIM:615500
HP:0025426	Abnormal bronchus morphology	79925	SPEF2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1770	DNAH9	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6850	SYK	OMIM:619381
HP:0025426	Abnormal bronchus morphology	81704	DOCK8	OMIM:243700
HP:0025426	Abnormal bronchus morphology	10568	SLC34A2	ORPHA:60025
HP:0025426	Abnormal bronchus morphology	10892	MALT1	OMIM:615468
HP:0025426	Abnormal bronchus morphology	55315	SLC29A3	ORPHA:168569
HP:0025426	Abnormal bronchus morphology	9138	ARHGEF1	OMIM:618459
HP:0025426	Abnormal bronchus morphology	5297	PI4KA	OMIM:619708
HP:0025426	Abnormal bronchus morphology	6929	TCF3	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	3543	IGLL1	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	29760	BLNK	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	56262	LRRC8A	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	745	MYRF	OMIM:618280
HP:0025426	Abnormal bronchus morphology	2077	ERF	OMIM:617180
HP:0025426	Abnormal bronchus morphology	2317	FLNB	OMIM:150250
HP:0025426	Abnormal bronchus morphology	5447	POR	OMIM:201750
HP:0025426	Abnormal bronchus morphology	374879	ZNF699	OMIM:619488
HP:0025426	Abnormal bronchus morphology	3572	IL6ST	OMIM:619752
HP:0025426	Abnormal bronchus morphology	4629	MYH11	OMIM:619351
HP:0025426	Abnormal bronchus morphology	8425	LTBP4	OMIM:613177
HP:0025426	Abnormal bronchus morphology	2260	FGFR1	OMIM:101600
HP:0025426	Abnormal bronchus morphology	2263	FGFR2	OMIM:101600
HP:0025426	Abnormal bronchus morphology	7994	KAT6A	OMIM:616268
HP:0025426	Abnormal bronchus morphology	5000	ORC4	OMIM:613800
HP:0025426	Abnormal bronchus morphology	3852	KRT5	ORPHA:79396
HP:0025426	Abnormal bronchus morphology	3861	KRT14	ORPHA:79396
HP:0025426	Abnormal bronchus morphology	3265	HRAS	OMIM:218040
HP:0025426	Abnormal bronchus morphology	23594	ORC6	OMIM:613803
HP:0025426	Abnormal bronchus morphology	1836	SLC26A2	ORPHA:56304
HP:0025426	Abnormal bronchus morphology	79813	EHMT1	OMIM:610253
HP:0025426	Abnormal bronchus morphology	222663	SCUBE3	OMIM:619184
HP:0025426	Abnormal bronchus morphology	5879	RAC1	ORPHA:500159
HP:0025426	Abnormal bronchus morphology	5879	RAC1	OMIM:617751
HP:0025426	Abnormal bronchus morphology	51053	GMNN	OMIM:616835
HP:0025426	Abnormal bronchus morphology	6662	SOX9	ORPHA:140
HP:0025426	Abnormal bronchus morphology	6662	SOX9	OMIM:114290
HP:0025426	Abnormal bronchus morphology	3423	IDS	OMIM:309900
HP:0025426	Abnormal bronchus morphology	27019	DNAI1	OMIM:244400
HP:0025426	Abnormal bronchus morphology	374407	DNAJB13	OMIM:617091
HP:0025426	Abnormal bronchus morphology	6595	SMARCA2	OMIM:619293
HP:0025426	Abnormal bronchus morphology	4791	NFKB2	ORPHA:293978
HP:0025426	Abnormal bronchus morphology	4791	NFKB2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	23495	TNFRSF13B	OMIM:240500
HP:0025426	Abnormal bronchus morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	115650	TNFRSF13C	OMIM:240500
HP:0025426	Abnormal bronchus morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	1380	CR2	OMIM:240500
HP:0025426	Abnormal bronchus morphology	1380	CR2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	29851	ICOS	OMIM:240500
HP:0025426	Abnormal bronchus morphology	29851	ICOS	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	29851	ICOS	OMIM:607594
HP:0025426	Abnormal bronchus morphology	930	CD19	OMIM:240500
HP:0025426	Abnormal bronchus morphology	930	CD19	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	84061	MAGT1	OMIM:300853
HP:0025426	Abnormal bronchus morphology	4256	MGP	OMIM:245150
HP:0025426	Abnormal bronchus morphology	6103	RPGR	OMIM:300455
HP:0025426	Abnormal bronchus morphology	123872	DNAAF1	OMIM:613193
HP:0025426	Abnormal bronchus morphology	4683	NBN	OMIM:251260
HP:0025426	Abnormal bronchus morphology	2622	GAS8	OMIM:616726
HP:0025426	Abnormal bronchus morphology	23765	IL17RA	OMIM:613953
HP:0025426	Abnormal bronchus morphology	3588	IL10RB	OMIM:612567
HP:0025426	Abnormal bronchus morphology	6890	TAP1	OMIM:604571
HP:0025426	Abnormal bronchus morphology	6891	TAP2	OMIM:604571
HP:0025426	Abnormal bronchus morphology	6892	TAPBP	OMIM:604571
HP:0025426	Abnormal bronchus morphology	3561	IL2RG	OMIM:312863
HP:0025426	Abnormal bronchus morphology	974	CD79B	OMIM:612692
HP:0025426	Abnormal bronchus morphology	472	ATM	OMIM:208900
HP:0025426	Abnormal bronchus morphology	973	CD79A	OMIM:613501
HP:0025426	Abnormal bronchus morphology	4790	NFKB1	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	8742	TNFSF12	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	5580	PRKCD	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	931	MS4A1	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	975	CD81	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	359948	IRF2BP2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	6901	TAFAZZIN	OMIM:302060
HP:0025426	Abnormal bronchus morphology	79158	GNPTAB	OMIM:252500
HP:0025426	Abnormal bronchus morphology	65992	DDRGK1	ORPHA:93352
HP:0025426	Abnormal bronchus morphology	415	ARSL	ORPHA:79345
HP:0025426	Abnormal bronchus morphology	96459	FNIP1	OMIM:619705
HP:0025426	Abnormal bronchus morphology	54768	HYDIN	OMIM:608647
HP:0025426	Abnormal bronchus morphology	5062	PAK2	OMIM:618458
HP:0025426	Abnormal bronchus morphology	21	ABCA3	OMIM:610921
HP:0025426	Abnormal bronchus morphology	10551	AGR2	OMIM:620233
HP:0025426	Abnormal bronchus morphology	79989	IFT56	OMIM:619534
HP:0025426	Abnormal bronchus morphology	6440	SFTPC	OMIM:610913
HP:0025426	Abnormal bronchus morphology	23149	FCHO1	OMIM:619164
HP:0025426	Abnormal bronchus morphology	1956	EGFR	OMIM:616069
HP:0012321	D-2-hydroxyglutaric aciduria	728294	D2HGDH	OMIM:600721
HP:0012321	D-2-hydroxyglutaric aciduria	3418	IDH2	OMIM:613657
HP:0012321	D-2-hydroxyglutaric aciduria	3417	IDH1	ORPHA:99646
HP:0012324	Myeloid leukemia	219285	SAMD9L	OMIM:159550
HP:0012324	Myeloid leukemia	219285	SAMD9L	ORPHA:2585
HP:0012324	Myeloid leukemia	3417	IDH1	ORPHA:99646
HP:0012324	Myeloid leukemia	867	CBL	OMIM:613563
HP:0012324	Myeloid leukemia	867	CBL	OMIM:607785
HP:0012324	Myeloid leukemia	4893	NRAS	OMIM:613224
HP:0012324	Myeloid leukemia	3845	KRAS	OMIM:609942
HP:0012324	Myeloid leukemia	4763	NF1	OMIM:607785
HP:0012324	Myeloid leukemia	23092	ARHGAP26	OMIM:607785
HP:0012324	Myeloid leukemia	5781	PTPN11	OMIM:607785
HP:0012324	Myeloid leukemia	5781	PTPN11	OMIM:163950
HP:0012324	Myeloid leukemia	5604	MAP2K1	OMIM:163950
HP:0012324	Myeloid leukemia	673	BRAF	OMIM:163950
HP:0012324	Myeloid leukemia	2165	F13B	ORPHA:331
HP:0012324	Myeloid leukemia	2162	F13A1	ORPHA:331
HP:0012324	Myeloid leukemia	7015	TERT	OMIM:614742
HP:0012324	Myeloid leukemia	171023	ASXL1	ORPHA:98849
HP:0012324	Myeloid leukemia	54790	TET2	ORPHA:98849
HP:0012324	Myeloid leukemia	3815	KIT	ORPHA:98849
HP:0012324	Myeloid leukemia	6427	SRSF2	ORPHA:98849
HP:0012324	Myeloid leukemia	7012	TERC	OMIM:614743
HP:0012324	Myeloid leukemia	2624	GATA2	OMIM:614172
HP:0012324	Myeloid leukemia	1788	DNMT3A	ORPHA:404443
HP:0012324	Myeloid leukemia	26040	SETBP1	ORPHA:798
HP:0012325	Chronic myelomonocytic leukemia	171023	ASXL1	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	54790	TET2	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	3815	KIT	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	6427	SRSF2	ORPHA:98849
HP:0012326	Abnormal celiac artery morphology	1289	COL5A1	OMIM:619329
HP:0012322	Perifolliculitis	55851	PSENEN	OMIM:613736
HP:0012322	Perifolliculitis	5663	PSEN1	OMIM:613737
HP:0032759	Focal sensory seizure with vestibular features	5649	RELN	OMIM:600512
HP:0032759	Focal sensory seizure with vestibular features	64780	MICAL1	OMIM:600512
HP:0032759	Focal sensory seizure with vestibular features	9211	LGI1	OMIM:600512
HP:0032754	Focal aware sensory seizure	5649	RELN	OMIM:600512
HP:0032754	Focal aware sensory seizure	64780	MICAL1	OMIM:600512
HP:0032754	Focal aware sensory seizure	9211	LGI1	OMIM:600512
HP:0032754	Focal aware sensory seizure	51083	GAL	OMIM:616461
HP:0002110	Bronchiectasis	374407	DNAJB13	OMIM:617091
HP:0002110	Bronchiectasis	374407	DNAJB13	ORPHA:244
HP:0002110	Bronchiectasis	139212	DNAAF6	OMIM:300991
HP:0002110	Bronchiectasis	139212	DNAAF6	ORPHA:244
HP:0002110	Bronchiectasis	85016	CFAP300	OMIM:618063
HP:0002110	Bronchiectasis	85016	CFAP300	ORPHA:244
HP:0002110	Bronchiectasis	83538	ODAD4	OMIM:617092
HP:0002110	Bronchiectasis	83538	ODAD4	ORPHA:244
HP:0002110	Bronchiectasis	4791	NFKB2	ORPHA:293978
HP:0002110	Bronchiectasis	4791	NFKB2	ORPHA:1572
HP:0002110	Bronchiectasis	695	BTK	OMIM:300755
HP:0002110	Bronchiectasis	3071	NCKAP1L	OMIM:618982
HP:0002110	Bronchiectasis	4683	NBN	OMIM:251260
HP:0002110	Bronchiectasis	10309	CCNO	OMIM:615872
HP:0002110	Bronchiectasis	10309	CCNO	ORPHA:244
HP:0002110	Bronchiectasis	2622	GAS8	OMIM:616726
HP:0002110	Bronchiectasis	2622	GAS8	ORPHA:244
HP:0002110	Bronchiectasis	5238	PGM3	ORPHA:443811
HP:0002110	Bronchiectasis	5238	PGM3	OMIM:615816
HP:0002110	Bronchiectasis	1080	CFTR	OMIM:211400
HP:0002110	Bronchiectasis	1080	CFTR	OMIM:219700
HP:0002110	Bronchiectasis	1080	CFTR	ORPHA:60033
HP:0002110	Bronchiectasis	1080	CFTR	ORPHA:586
HP:0002110	Bronchiectasis	6338	SCNN1B	OMIM:211400
HP:0002110	Bronchiectasis	6338	SCNN1B	ORPHA:60033
HP:0002110	Bronchiectasis	27148	STK36	OMIM:619436
HP:0002110	Bronchiectasis	27148	STK36	ORPHA:244
HP:0002110	Bronchiectasis	5880	RAC2	OMIM:618986
HP:0002110	Bronchiectasis	5293	PIK3CD	OMIM:615513
HP:0002110	Bronchiectasis	987	LRBA	OMIM:614700
HP:0002110	Bronchiectasis	8737	RIPK1	OMIM:618108
HP:0002110	Bronchiectasis	6890	TAP1	OMIM:604571
HP:0002110	Bronchiectasis	6891	TAP2	OMIM:604571
HP:0002110	Bronchiectasis	6892	TAPBP	OMIM:604571
HP:0002110	Bronchiectasis	345895	RSPH4A	OMIM:612649
HP:0002110	Bronchiectasis	345895	RSPH4A	ORPHA:244
HP:0002110	Bronchiectasis	9094	UNC119	OMIM:615518
HP:0002110	Bronchiectasis	54768	HYDIN	OMIM:608647
HP:0002110	Bronchiectasis	54768	HYDIN	ORPHA:244
HP:0002110	Bronchiectasis	89765	RSPH1	OMIM:615481
HP:0002110	Bronchiectasis	89765	RSPH1	ORPHA:244
HP:0002110	Bronchiectasis	161582	DNAAF4	OMIM:615482
HP:0002110	Bronchiectasis	161582	DNAAF4	ORPHA:244
HP:0002110	Bronchiectasis	6809	STX3	OMIM:619445
HP:0002110	Bronchiectasis	6809	STX3	OMIM:619446
HP:0002110	Bronchiectasis	9948	WDR1	OMIM:150550
HP:0002110	Bronchiectasis	221421	RSPH9	OMIM:612650
HP:0002110	Bronchiectasis	221421	RSPH9	ORPHA:244
HP:0002110	Bronchiectasis	4790	NFKB1	OMIM:616576
HP:0002110	Bronchiectasis	4790	NFKB1	ORPHA:1572
HP:0002110	Bronchiectasis	472	ATM	OMIM:208900
HP:0002110	Bronchiectasis	388389	CCDC103	OMIM:614679
HP:0002110	Bronchiectasis	388389	CCDC103	ORPHA:244
HP:0002110	Bronchiectasis	1767	DNAH5	OMIM:608644
HP:0002110	Bronchiectasis	1767	DNAH5	ORPHA:244
HP:0002110	Bronchiectasis	8382	NME5	OMIM:620032
HP:0002110	Bronchiectasis	6440	SFTPC	OMIM:610913
HP:0002110	Bronchiectasis	6440	SFTPC	ORPHA:2032
HP:0002110	Bronchiectasis	2212	FCGR2A	OMIM:219700
HP:0002110	Bronchiectasis	7040	TGFB1	OMIM:219700
HP:0002110	Bronchiectasis	7040	TGFB1	ORPHA:586
HP:0002110	Bronchiectasis	6340	SCNN1G	OMIM:613071
HP:0002110	Bronchiectasis	6340	SCNN1G	ORPHA:60033
HP:0002110	Bronchiectasis	6772	STAT1	OMIM:614162
HP:0002110	Bronchiectasis	6772	STAT1	ORPHA:391487
HP:0002110	Bronchiectasis	23495	TNFRSF13B	OMIM:240500
HP:0002110	Bronchiectasis	23495	TNFRSF13B	ORPHA:1572
HP:0002110	Bronchiectasis	115650	TNFRSF13C	OMIM:240500
HP:0002110	Bronchiectasis	115650	TNFRSF13C	ORPHA:1572
HP:0002110	Bronchiectasis	1380	CR2	OMIM:240500
HP:0002110	Bronchiectasis	1380	CR2	ORPHA:1572
HP:0002110	Bronchiectasis	29851	ICOS	OMIM:240500
HP:0002110	Bronchiectasis	29851	ICOS	ORPHA:1572
HP:0002110	Bronchiectasis	29851	ICOS	OMIM:607594
HP:0002110	Bronchiectasis	930	CD19	OMIM:240500
HP:0002110	Bronchiectasis	930	CD19	ORPHA:1572
HP:0002110	Bronchiectasis	84061	MAGT1	OMIM:300853
HP:0002110	Bronchiectasis	123872	DNAAF1	OMIM:613193
HP:0002110	Bronchiectasis	123872	DNAAF1	ORPHA:244
HP:0002110	Bronchiectasis	54453	RIN2	OMIM:613075
HP:0002110	Bronchiectasis	1493	CTLA4	OMIM:616100
HP:0002110	Bronchiectasis	3394	IRF8	OMIM:226990
HP:0002110	Bronchiectasis	10379	IRF9	OMIM:618648
HP:0002110	Bronchiectasis	7852	CXCR4	OMIM:193670
HP:0002110	Bronchiectasis	7852	CXCR4	ORPHA:51636
HP:0002110	Bronchiectasis	56244	BTNL2	OMIM:612387
HP:0002110	Bronchiectasis	56244	BTNL2	ORPHA:797
HP:0002110	Bronchiectasis	3572	IL6ST	OMIM:618523
HP:0002110	Bronchiectasis	3572	IL6ST	OMIM:619752
HP:0002110	Bronchiectasis	5426	POLE	OMIM:615139
HP:0002110	Bronchiectasis	54970	TTC12	OMIM:618801
HP:0002110	Bronchiectasis	54970	TTC12	ORPHA:244
HP:0002110	Bronchiectasis	729238	SFTPA2	ORPHA:2032
HP:0002110	Bronchiectasis	79991	STN1	ORPHA:2032
HP:0002110	Bronchiectasis	653509	SFTPA1	ORPHA:2032
HP:0002110	Bronchiectasis	21	ABCA3	ORPHA:2032
HP:0002110	Bronchiectasis	1832	DSP	ORPHA:2032
HP:0002110	Bronchiectasis	727897	MUC5B	ORPHA:2032
HP:0002110	Bronchiectasis	10144	FAM13A	ORPHA:2032
HP:0002110	Bronchiectasis	23250	ATP11A	ORPHA:2032
HP:0002110	Bronchiectasis	91039	DPP9	ORPHA:2032
HP:0002110	Bronchiectasis	51750	RTEL1	ORPHA:2032
HP:0002110	Bronchiectasis	7012	TERC	ORPHA:2032
HP:0002110	Bronchiectasis	5073	PARN	ORPHA:2032
HP:0002110	Bronchiectasis	7015	TERT	ORPHA:2032
HP:0002110	Bronchiectasis	219972	MPEG1	OMIM:619223
HP:0002110	Bronchiectasis	567	B2M	OMIM:241600
HP:0002110	Bronchiectasis	7161	TP73	OMIM:619466
HP:0002110	Bronchiectasis	254428	SLC41A1	OMIM:619468
HP:0002110	Bronchiectasis	7174	TPP2	OMIM:619220
HP:0002110	Bronchiectasis	146206	CARMIL2	OMIM:618131
HP:0002110	Bronchiectasis	4700	NDUFA6	OMIM:618253
HP:0002110	Bronchiectasis	115399	LRRC56	OMIM:618254
HP:0002110	Bronchiectasis	115399	LRRC56	ORPHA:244
HP:0002110	Bronchiectasis	1729	DIAPH1	OMIM:616632
HP:0002110	Bronchiectasis	10125	RASGRP1	OMIM:618534
HP:0002110	Bronchiectasis	8742	TNFSF12	ORPHA:1572
HP:0002110	Bronchiectasis	5580	PRKCD	ORPHA:1572
HP:0002110	Bronchiectasis	931	MS4A1	ORPHA:1572
HP:0002110	Bronchiectasis	975	CD81	ORPHA:1572
HP:0002110	Bronchiectasis	359948	IRF2BP2	ORPHA:1572
HP:0002110	Bronchiectasis	3123	HLA-DRB1	ORPHA:797
HP:0002110	Bronchiectasis	3123	HLA-DRB1	OMIM:181000
HP:0002110	Bronchiectasis	55036	CCDC40	OMIM:613808
HP:0002110	Bronchiectasis	55036	CCDC40	ORPHA:244
HP:0002110	Bronchiectasis	339829	CCDC39	OMIM:613807
HP:0002110	Bronchiectasis	339829	CCDC39	ORPHA:244
HP:0002110	Bronchiectasis	27019	DNAI1	OMIM:244400
HP:0002110	Bronchiectasis	27019	DNAI1	ORPHA:244
HP:0002110	Bronchiectasis	1789	DNMT3B	OMIM:242860
HP:0002110	Bronchiectasis	10043	TOM1	ORPHA:391487
HP:0002110	Bronchiectasis	83861	RSPH3	OMIM:616481
HP:0002110	Bronchiectasis	83861	RSPH3	ORPHA:244
HP:0002110	Bronchiectasis	29775	CARD10	OMIM:619632
HP:0002110	Bronchiectasis	5265	SERPINA1	OMIM:613490
HP:0002110	Bronchiectasis	5265	SERPINA1	ORPHA:586
HP:0002110	Bronchiectasis	152110	NEK10	OMIM:618781
HP:0002110	Bronchiectasis	152110	NEK10	ORPHA:244
HP:0002110	Bronchiectasis	6337	SCNN1A	ORPHA:60033
HP:0002110	Bronchiectasis	6337	SCNN1A	OMIM:613021
HP:0002110	Bronchiectasis	23568	ARL2BP	OMIM:615434
HP:0002110	Bronchiectasis	5295	PIK3R1	OMIM:616005
HP:0002110	Bronchiectasis	5295	PIK3R1	ORPHA:33110
HP:0002110	Bronchiectasis	25981	DNAH1	OMIM:617577
HP:0002110	Bronchiectasis	25981	DNAH1	ORPHA:244
HP:0002110	Bronchiectasis	64446	DNAI2	OMIM:612444
HP:0002110	Bronchiectasis	64446	DNAI2	ORPHA:244
HP:0002110	Bronchiectasis	54440	SASH3	OMIM:301082
HP:0002110	Bronchiectasis	2006	ELN	OMIM:123700
HP:0002110	Bronchiectasis	2006	ELN	ORPHA:90348
HP:0002110	Bronchiectasis	55719	SLF2	OMIM:620184
HP:0002110	Bronchiectasis	3507	IGHM	OMIM:601495
HP:0002110	Bronchiectasis	3507	IGHM	ORPHA:33110
HP:0002110	Bronchiectasis	6804	STX1A	ORPHA:586
HP:0002110	Bronchiectasis	2947	GSTM3	ORPHA:586
HP:0002110	Bronchiectasis	2729	GCLC	ORPHA:586
HP:0002110	Bronchiectasis	1084	CEACAM3	ORPHA:586
HP:0002110	Bronchiectasis	6556	SLC11A1	ORPHA:586
HP:0002110	Bronchiectasis	51164	DCTN4	ORPHA:586
HP:0002110	Bronchiectasis	3783	KCNN4	ORPHA:586
HP:0002110	Bronchiectasis	4282	MIF	ORPHA:586
HP:0002110	Bronchiectasis	1909	EDNRA	ORPHA:586
HP:0002110	Bronchiectasis	6550	SLC9A3	ORPHA:586
HP:0002110	Bronchiectasis	3162	HMOX1	ORPHA:586
HP:0002110	Bronchiectasis	115019	SLC26A9	ORPHA:586
HP:0002110	Bronchiectasis	3077	HFE	ORPHA:586
HP:0002110	Bronchiectasis	11254	SLC6A14	ORPHA:586
HP:0002110	Bronchiectasis	22802	CLCA4	ORPHA:586
HP:0002110	Bronchiectasis	4680	CEACAM6	ORPHA:586
HP:0002110	Bronchiectasis	54790	TET2	OMIM:619126
HP:0002110	Bronchiectasis	60468	BACH2	OMIM:618394
HP:0002110	Bronchiectasis	641	BLM	OMIM:210900
HP:0002110	Bronchiectasis	51364	ZMYND10	OMIM:615444
HP:0002110	Bronchiectasis	51364	ZMYND10	ORPHA:244
HP:0002110	Bronchiectasis	50615	IL21R	OMIM:615207
HP:0002110	Bronchiectasis	8701	DNAH11	OMIM:611884
HP:0002110	Bronchiectasis	8701	DNAH11	ORPHA:244
HP:0002110	Bronchiectasis	10551	AGR2	OMIM:620233
HP:0002110	Bronchiectasis	85452	CFAP74	OMIM:620197
HP:0002110	Bronchiectasis	925	CD8A	OMIM:608957
HP:0002110	Bronchiectasis	84905	ZNF341	OMIM:618282
HP:0002110	Bronchiectasis	11117	EMILIN1	OMIM:620080
HP:0002110	Bronchiectasis	5422	POLA1	OMIM:301220
HP:0002110	Bronchiectasis	92749	DRC1	OMIM:615294
HP:0002110	Bronchiectasis	92749	DRC1	ORPHA:244
HP:0002110	Bronchiectasis	55130	ODAD2	OMIM:615451
HP:0002110	Bronchiectasis	55130	ODAD2	ORPHA:244
HP:0002110	Bronchiectasis	27040	LAT	OMIM:617514
HP:0002110	Bronchiectasis	10516	FBLN5	ORPHA:90348
HP:0002110	Bronchiectasis	5832	ALDH18A1	ORPHA:90348
HP:0002110	Bronchiectasis	84433	CARD11	OMIM:617638
HP:0002110	Bronchiectasis	246176	GAS2L2	OMIM:618449
HP:0002110	Bronchiectasis	246176	GAS2L2	ORPHA:244
HP:0002110	Bronchiectasis	3514	IGKC	ORPHA:183675
HP:0002110	Bronchiectasis	3501	IGHG2	ORPHA:183675
HP:0002110	Bronchiectasis	115948	ODAD3	ORPHA:244
HP:0002110	Bronchiectasis	115948	ODAD3	OMIM:616037
HP:0002110	Bronchiectasis	352909	DNAAF3	ORPHA:244
HP:0002110	Bronchiectasis	352909	DNAAF3	OMIM:606763
HP:0002110	Bronchiectasis	51314	NME8	ORPHA:244
HP:0002110	Bronchiectasis	8481	OFD1	ORPHA:244
HP:0002110	Bronchiectasis	2302	FOXJ1	ORPHA:244
HP:0002110	Bronchiectasis	2302	FOXJ1	OMIM:618699
HP:0002110	Bronchiectasis	85478	CCDC65	ORPHA:244
HP:0002110	Bronchiectasis	85478	CCDC65	OMIM:615504
HP:0002110	Bronchiectasis	6674	SPAG1	ORPHA:244
HP:0002110	Bronchiectasis	6674	SPAG1	OMIM:615505
HP:0002110	Bronchiectasis	83544	DNAL1	ORPHA:244
HP:0002110	Bronchiectasis	83544	DNAL1	OMIM:614017
HP:0002110	Bronchiectasis	200373	CFAP221	ORPHA:244
HP:0002110	Bronchiectasis	55172	DNAAF2	ORPHA:244
HP:0002110	Bronchiectasis	23639	DNAAF11	ORPHA:244
HP:0002110	Bronchiectasis	23639	DNAAF11	OMIM:614935
HP:0002110	Bronchiectasis	54919	DNAAF5	ORPHA:244
HP:0002110	Bronchiectasis	6103	RPGR	ORPHA:244
HP:0002110	Bronchiectasis	93233	ODAD1	ORPHA:244
HP:0002110	Bronchiectasis	93233	ODAD1	OMIM:615067
HP:0002110	Bronchiectasis	345643	MCIDAS	ORPHA:244
HP:0002110	Bronchiectasis	345643	MCIDAS	OMIM:618695
HP:0002110	Bronchiectasis	56683	CFAP298	ORPHA:244
HP:0002110	Bronchiectasis	56683	CFAP298	OMIM:615500
HP:0002110	Bronchiectasis	79925	SPEF2	ORPHA:244
HP:0002110	Bronchiectasis	1770	DNAH9	ORPHA:244
HP:0002110	Bronchiectasis	6850	SYK	OMIM:619381
HP:0002110	Bronchiectasis	81704	DOCK8	OMIM:243700
HP:0002110	Bronchiectasis	10568	SLC34A2	ORPHA:60025
HP:0002110	Bronchiectasis	10892	MALT1	OMIM:615468
HP:0002110	Bronchiectasis	96459	FNIP1	OMIM:619705
HP:0002110	Bronchiectasis	55315	SLC29A3	ORPHA:168569
HP:0002110	Bronchiectasis	9138	ARHGEF1	OMIM:618459
HP:0002110	Bronchiectasis	5297	PI4KA	OMIM:619708
HP:0002110	Bronchiectasis	6929	TCF3	ORPHA:33110
HP:0002110	Bronchiectasis	973	CD79A	ORPHA:33110
HP:0002110	Bronchiectasis	974	CD79B	ORPHA:33110
HP:0002110	Bronchiectasis	3543	IGLL1	ORPHA:33110
HP:0002110	Bronchiectasis	29760	BLNK	ORPHA:33110
HP:0002110	Bronchiectasis	56262	LRRC8A	ORPHA:33110
HP:0002113	Pulmonary infiltrates	355	FAS	ORPHA:3261
HP:0002113	Pulmonary infiltrates	355	FAS	ORPHA:117
HP:0002113	Pulmonary infiltrates	356	FASLG	ORPHA:3261
HP:0002113	Pulmonary infiltrates	5580	PRKCD	ORPHA:3261
HP:0002113	Pulmonary infiltrates	843	CASP10	ORPHA:3261
HP:0002113	Pulmonary infiltrates	10125	RASGRP1	ORPHA:3261
HP:0002113	Pulmonary infiltrates	330	BIRC3	ORPHA:52417
HP:0002113	Pulmonary infiltrates	10892	MALT1	ORPHA:52417
HP:0002113	Pulmonary infiltrates	27086	FOXP1	ORPHA:52417
HP:0002113	Pulmonary infiltrates	3492	IGH	ORPHA:52417
HP:0002113	Pulmonary infiltrates	8915	BCL10	ORPHA:52417
HP:0002113	Pulmonary infiltrates	5156	PDGFRA	OMIM:607685
HP:0002113	Pulmonary infiltrates	1493	CTLA4	ORPHA:900
HP:0002113	Pulmonary infiltrates	26191	PTPN22	ORPHA:900
HP:0002113	Pulmonary infiltrates	3115	HLA-DPB1	ORPHA:900
HP:0002113	Pulmonary infiltrates	5657	PRTN3	ORPHA:900
HP:0002113	Pulmonary infiltrates	3113	HLA-DPA1	ORPHA:900
HP:0002113	Pulmonary infiltrates	3043	HBB	ORPHA:251380
HP:0002113	Pulmonary infiltrates	53335	BCL11A	ORPHA:251380
HP:0002113	Pulmonary infiltrates	10661	KLF1	ORPHA:251380
HP:0002113	Pulmonary infiltrates	3047	HBG1	ORPHA:251380
HP:0002113	Pulmonary infiltrates	3048	HBG2	ORPHA:251380
HP:0002113	Pulmonary infiltrates	7317	UBA1	OMIM:301054
HP:0002113	Pulmonary infiltrates	2629	GBA1	OMIM:230800
HP:0002113	Pulmonary infiltrates	60468	BACH2	OMIM:618394
HP:0002113	Pulmonary infiltrates	3459	IFNGR1	OMIM:209950
HP:0002113	Pulmonary infiltrates	3459	IFNGR1	ORPHA:117
HP:0002113	Pulmonary infiltrates	7248	TSC1	ORPHA:538
HP:0002113	Pulmonary infiltrates	7249	TSC2	ORPHA:538
HP:0002113	Pulmonary infiltrates	9663	LPIN2	ORPHA:77297
HP:0002113	Pulmonary infiltrates	3123	HLA-DRB1	OMIM:181000
HP:0002113	Pulmonary infiltrates	3123	HLA-DRB1	ORPHA:220393
HP:0002113	Pulmonary infiltrates	348	APOE	ORPHA:158029
HP:0002113	Pulmonary infiltrates	56244	BTNL2	OMIM:612387
HP:0002113	Pulmonary infiltrates	5557	PRIM1	OMIM:620005
HP:0002113	Pulmonary infiltrates	6439	SFTPB	ORPHA:217563
HP:0002113	Pulmonary infiltrates	4615	MYD88	ORPHA:33226
HP:0002113	Pulmonary infiltrates	10568	SLC34A2	ORPHA:60025
HP:0002113	Pulmonary infiltrates	254428	SLC41A1	OMIM:619468
HP:0002113	Pulmonary infiltrates	1794	DOCK2	OMIM:616433
HP:0002113	Pulmonary infiltrates	1235	CCR6	ORPHA:220393
HP:0002113	Pulmonary infiltrates	1490	CCN2	ORPHA:220393
HP:0002113	Pulmonary infiltrates	3663	IRF5	ORPHA:220393
HP:0002113	Pulmonary infiltrates	857	CAV1	ORPHA:220393
HP:0002113	Pulmonary infiltrates	3559	IL2RA	OMIM:606367
HP:0002113	Pulmonary infiltrates	7080	NKX2-1	OMIM:610978
HP:0002113	Pulmonary infiltrates	5873	RAB27A	ORPHA:79477
HP:0002113	Pulmonary infiltrates	149233	IL23R	ORPHA:117
HP:0002113	Pulmonary infiltrates	6775	STAT4	ORPHA:117
HP:0002113	Pulmonary infiltrates	3586	IL10	ORPHA:117
HP:0002113	Pulmonary infiltrates	4210	MEFV	ORPHA:117
HP:0002113	Pulmonary infiltrates	1230	CCR1	ORPHA:117
HP:0002113	Pulmonary infiltrates	3592	IL12A	ORPHA:117
HP:0002113	Pulmonary infiltrates	101928376	IL12A-AS1	ORPHA:117
HP:0002113	Pulmonary infiltrates	3106	HLA-B	ORPHA:117
HP:0002113	Pulmonary infiltrates	7099	TLR4	ORPHA:117
HP:0002113	Pulmonary infiltrates	720	C4A	ORPHA:117
HP:0002113	Pulmonary infiltrates	337867	UBAC2	ORPHA:117
HP:0002113	Pulmonary infiltrates	51752	ERAP1	ORPHA:117
HP:0002113	Pulmonary infiltrates	8302	KLRC4	ORPHA:117
HP:0002113	Pulmonary infiltrates	6609	SMPD1	OMIM:607616
HP:0002113	Pulmonary infiltrates	6609	SMPD1	OMIM:257200
HP:0002113	Pulmonary infiltrates	427	ASAH1	ORPHA:333
HP:0011362	Abnormal hair quantity	4035	LRP1	OMIM:604093
HP:0011362	Abnormal hair quantity	2255	FGF10	OMIM:620193
HP:0011362	Abnormal hair quantity	2706	GJB2	OMIM:602540
HP:0011362	Abnormal hair quantity	84172	POLR1B	ORPHA:861
HP:0011362	Abnormal hair quantity	9533	POLR1C	ORPHA:861
HP:0011362	Abnormal hair quantity	51082	POLR1D	ORPHA:861
HP:0011362	Abnormal hair quantity	6949	TCOF1	ORPHA:861
HP:0011362	Abnormal hair quantity	3229	HOXC13	OMIM:614931
HP:0011362	Abnormal hair quantity	10651	MTX2	ORPHA:90153
HP:0011362	Abnormal hair quantity	26227	PHGDH	OMIM:256520
HP:0011362	Abnormal hair quantity	267010	RNU12	OMIM:603116
HP:0011362	Abnormal hair quantity	83999	KREMEN1	OMIM:617392
HP:0011362	Abnormal hair quantity	1801	DPH1	OMIM:616901
HP:0011362	Abnormal hair quantity	9896	FIG4	ORPHA:3472
HP:0011362	Abnormal hair quantity	9896	FIG4	OMIM:216340
HP:0011362	Abnormal hair quantity	55697	VAC14	ORPHA:3472
HP:0011362	Abnormal hair quantity	11285	B4GALT7	ORPHA:75496
HP:0011362	Abnormal hair quantity	3675	ITGA3	OMIM:614748
HP:0011362	Abnormal hair quantity	51611	DPH5	OMIM:620070
HP:0011362	Abnormal hair quantity	4763	NF1	ORPHA:139474
HP:0011362	Abnormal hair quantity	1748	DLX4	OMIM:616788
HP:0011362	Abnormal hair quantity	90121	TSR2	OMIM:300946
HP:0011362	Abnormal hair quantity	11005	SPINK5	ORPHA:634
HP:0011362	Abnormal hair quantity	23241	PACS2	OMIM:618067
HP:0011362	Abnormal hair quantity	6228	RPS23	OMIM:617412
HP:0011362	Abnormal hair quantity	7360	UGP2	OMIM:618744
HP:0011362	Abnormal hair quantity	7109	TRAPPC10	OMIM:620027
HP:0011362	Abnormal hair quantity	10274	STAG1	ORPHA:502434
HP:0011362	Abnormal hair quantity	10300	KATNB1	OMIM:616212
HP:0011362	Abnormal hair quantity	7552	ZNF711	OMIM:300803
HP:0011362	Abnormal hair quantity	9442	MED27	OMIM:619286
HP:0011362	Abnormal hair quantity	55690	PACS1	OMIM:615009
HP:0011362	Abnormal hair quantity	55690	PACS1	ORPHA:329224
HP:0011362	Abnormal hair quantity	318	NUDT2	OMIM:619844
HP:0011362	Abnormal hair quantity	2314	FLII	ORPHA:819
HP:0011362	Abnormal hair quantity	23096	IQSEC2	ORPHA:819
HP:0011362	Abnormal hair quantity	10743	RAI1	ORPHA:819
HP:0011362	Abnormal hair quantity	10743	RAI1	OMIM:182290
HP:0011362	Abnormal hair quantity	10522	DEAF1	ORPHA:819
HP:0011362	Abnormal hair quantity	10978	CLP1	OMIM:615803
HP:0011362	Abnormal hair quantity	57082	KNL1	OMIM:604321
HP:0011362	Abnormal hair quantity	26153	KIF26A	OMIM:620156
HP:0011362	Abnormal hair quantity	83696	TRAPPC9	OMIM:613192
HP:0011362	Abnormal hair quantity	83696	TRAPPC9	ORPHA:352530
HP:0011362	Abnormal hair quantity	55870	ASH1L	OMIM:617796
HP:0011362	Abnormal hair quantity	158326	FREM1	ORPHA:3366
HP:0011362	Abnormal hair quantity	9377	COX5A	OMIM:619064
HP:0011362	Abnormal hair quantity	23347	SMCHD1	OMIM:603457
HP:0011362	Abnormal hair quantity	10087	CERT1	OMIM:616351
HP:0011362	Abnormal hair quantity	23036	ZNF292	OMIM:619188
HP:0011362	Abnormal hair quantity	3340	NDST1	OMIM:616116
HP:0011362	Abnormal hair quantity	79813	EHMT1	OMIM:610253
HP:0011362	Abnormal hair quantity	79813	EHMT1	ORPHA:96147
HP:0011362	Abnormal hair quantity	1009	CDH11	ORPHA:1299
HP:0011362	Abnormal hair quantity	1009	CDH11	OMIM:211380
HP:0011362	Abnormal hair quantity	84300	UQCC2	OMIM:615824
HP:0011362	Abnormal hair quantity	3192	HNRNPU	ORPHA:238769
HP:0011362	Abnormal hair quantity	253738	EBF3	OMIM:617330
HP:0011362	Abnormal hair quantity	26038	CHD5	OMIM:619873
HP:0011362	Abnormal hair quantity	55621	TRMT1	OMIM:618302
HP:0011362	Abnormal hair quantity	1182	CLCN3	OMIM:619512
HP:0011362	Abnormal hair quantity	8558	CDK10	OMIM:617694
HP:0011362	Abnormal hair quantity	55280	CWF19L1	OMIM:616127
HP:0011362	Abnormal hair quantity	55280	CWF19L1	ORPHA:453521
HP:0011362	Abnormal hair quantity	5727	PTCH1	OMIM:610828
HP:0011362	Abnormal hair quantity	55027	HEATR3	OMIM:620072
HP:0011362	Abnormal hair quantity	54828	BCAS3	OMIM:619641
HP:0011362	Abnormal hair quantity	4286	MITF	OMIM:193510
HP:0011362	Abnormal hair quantity	4286	MITF	ORPHA:897
HP:0011362	Abnormal hair quantity	56098	PCDHGC4	OMIM:619880
HP:0011362	Abnormal hair quantity	7358	UGDH	OMIM:618792
HP:0011362	Abnormal hair quantity	2556	GABRA3	OMIM:301091
HP:0011362	Abnormal hair quantity	7030	TFE3	OMIM:301066
HP:0011362	Abnormal hair quantity	23162	MAPK8IP3	OMIM:618443
HP:0011362	Abnormal hair quantity	5077	PAX3	OMIM:193500
HP:0011362	Abnormal hair quantity	5077	PAX3	OMIM:148820
HP:0011362	Abnormal hair quantity	5077	PAX3	ORPHA:894
HP:0011362	Abnormal hair quantity	57479	PRR12	OMIM:619539
HP:0011362	Abnormal hair quantity	6611	SMS	OMIM:309583
HP:0011362	Abnormal hair quantity	6611	SMS	ORPHA:3063
HP:0011362	Abnormal hair quantity	23219	FBXO28	OMIM:619777
HP:0011362	Abnormal hair quantity	79791	FBXO31	OMIM:615979
HP:0011362	Abnormal hair quantity	85440	DOCK7	OMIM:615859
HP:0011362	Abnormal hair quantity	85440	DOCK7	ORPHA:411986
HP:0011362	Abnormal hair quantity	22856	CHSY1	OMIM:605282
HP:0011362	Abnormal hair quantity	6509	SLC1A4	ORPHA:447997
HP:0011362	Abnormal hair quantity	7546	ZIC2	OMIM:609637
HP:0011362	Abnormal hair quantity	55023	PHIP	ORPHA:589905
HP:0011362	Abnormal hair quantity	55023	PHIP	OMIM:617991
HP:0011362	Abnormal hair quantity	29123	ANKRD11	OMIM:148050
HP:0011362	Abnormal hair quantity	29123	ANKRD11	ORPHA:2332
HP:0011362	Abnormal hair quantity	2702	GJA5	OMIM:612474
HP:0011362	Abnormal hair quantity	2703	GJA8	OMIM:612474
HP:0011362	Abnormal hair quantity	22907	DHX30	OMIM:617804
HP:0011362	Abnormal hair quantity	1642	DDB1	OMIM:619426
HP:0011362	Abnormal hair quantity	81603	TRIM8	OMIM:619428
HP:0011362	Abnormal hair quantity	6888	TALDO1	OMIM:606003
HP:0011362	Abnormal hair quantity	3720	JARID2	OMIM:620098
HP:0011362	Abnormal hair quantity	9949	AMMECR1	OMIM:300990
HP:0011362	Abnormal hair quantity	11160	ERLIN2	ORPHA:280384
HP:0011362	Abnormal hair quantity	11160	ERLIN2	ORPHA:209951
HP:0011362	Abnormal hair quantity	8473	OGT	OMIM:300997
HP:0011362	Abnormal hair quantity	51621	KLF13	OMIM:612001
HP:0011362	Abnormal hair quantity	1139	CHRNA7	OMIM:612001
HP:0011362	Abnormal hair quantity	5648	MASP1	OMIM:257920
HP:0011362	Abnormal hair quantity	55628	ZNF407	OMIM:619557
HP:0011362	Abnormal hair quantity	113179	ADAT3	ORPHA:363528
HP:0011362	Abnormal hair quantity	55209	SETD5	OMIM:615761
HP:0011362	Abnormal hair quantity	998	CDC42	OMIM:616737
HP:0011362	Abnormal hair quantity	998	CDC42	ORPHA:487796
HP:0011362	Abnormal hair quantity	1908	EDN3	ORPHA:897
HP:0011362	Abnormal hair quantity	1910	EDNRB	ORPHA:897
HP:0011362	Abnormal hair quantity	6663	SOX10	ORPHA:897
HP:0011362	Abnormal hair quantity	9969	MED13	OMIM:618009
HP:0011362	Abnormal hair quantity	1000	CDH2	OMIM:618929
HP:0011362	Abnormal hair quantity	2248	FGF3	ORPHA:90024
HP:0011362	Abnormal hair quantity	6792	CDKL5	ORPHA:505652
HP:0011362	Abnormal hair quantity	8091	HMGA2	ORPHA:94063
HP:0011362	Abnormal hair quantity	23592	LEMD3	ORPHA:94063
HP:0011362	Abnormal hair quantity	5718	PSMD12	ORPHA:529962
HP:0011362	Abnormal hair quantity	2186	BPTF	ORPHA:529962
HP:0011362	Abnormal hair quantity	80185	TTI2	OMIM:615541
HP:0011362	Abnormal hair quantity	80185	TTI2	ORPHA:391307
HP:0011362	Abnormal hair quantity	10771	ZMYND11	OMIM:616083
HP:0011362	Abnormal hair quantity	6711	SPTBN1	OMIM:619475
HP:0011362	Abnormal hair quantity	5702	PSMC3	OMIM:619354
HP:0011362	Abnormal hair quantity	50937	CDON	OMIM:614226
HP:0011362	Abnormal hair quantity	8405	SPOP	OMIM:618828
HP:0011362	Abnormal hair quantity	1457	CSNK2A1	OMIM:617062
HP:0011362	Abnormal hair quantity	23556	PIGN	ORPHA:280633
HP:0011362	Abnormal hair quantity	8450	CUL4B	ORPHA:85293
HP:0011362	Abnormal hair quantity	6591	SNAI2	ORPHA:2884
HP:0011362	Abnormal hair quantity	3815	KIT	ORPHA:2884
HP:0011362	Abnormal hair quantity	2273	FHL1	OMIM:300280
HP:0011362	Abnormal hair quantity	403	ARL3	OMIM:618161
HP:0011362	Abnormal hair quantity	5879	RAC1	OMIM:617751
HP:0011362	Abnormal hair quantity	23133	PHF8	ORPHA:85287
HP:0011362	Abnormal hair quantity	23133	PHF8	OMIM:300263
HP:0011362	Abnormal hair quantity	3778	KCNMA1	OMIM:618729
HP:0011362	Abnormal hair quantity	64802	NMNAT1	OMIM:619260
HP:0011362	Abnormal hair quantity	11141	IL1RAPL1	OMIM:300143
HP:0011362	Abnormal hair quantity	10844	TUBGCP2	OMIM:618737
HP:0011362	Abnormal hair quantity	22827	PUF60	ORPHA:508498
HP:0011362	Abnormal hair quantity	91949	COG7	OMIM:608779
HP:0011362	Abnormal hair quantity	4558	MT-TF	ORPHA:550
HP:0011362	Abnormal hair quantity	4572	MT-TQ	ORPHA:550
HP:0011362	Abnormal hair quantity	4512	MT-CO1	ORPHA:550
HP:0011362	Abnormal hair quantity	4513	MT-CO2	ORPHA:550
HP:0011362	Abnormal hair quantity	4514	MT-CO3	ORPHA:550
HP:0011362	Abnormal hair quantity	4578	MT-TW	ORPHA:550
HP:0011362	Abnormal hair quantity	4540	MT-ND5	ORPHA:550
HP:0011362	Abnormal hair quantity	4541	MT-ND6	ORPHA:550
HP:0011362	Abnormal hair quantity	4535	MT-ND1	ORPHA:550
HP:0011362	Abnormal hair quantity	4538	MT-ND4	ORPHA:550
HP:0011362	Abnormal hair quantity	4567	MT-TL1	ORPHA:550
HP:0011362	Abnormal hair quantity	4574	MT-TS1	ORPHA:550
HP:0011362	Abnormal hair quantity	4575	MT-TS2	ORPHA:550
HP:0011362	Abnormal hair quantity	4564	MT-TH	ORPHA:550
HP:0011362	Abnormal hair quantity	128869	PIGU	OMIM:618590
HP:0011362	Abnormal hair quantity	4054	LTBP3	OMIM:601216
HP:0011362	Abnormal hair quantity	526	ATP6V1B2	OMIM:616455
HP:0011362	Abnormal hair quantity	79644	SRD5A3	OMIM:612379
HP:0011362	Abnormal hair quantity	79644	SRD5A3	ORPHA:324737
HP:0011362	Abnormal hair quantity	4784	NFIX	OMIM:602535
HP:0011362	Abnormal hair quantity	65082	VPS33A	ORPHA:505248
HP:0011362	Abnormal hair quantity	9630	GNA14	ORPHA:1063
HP:0011362	Abnormal hair quantity	55967	NDUFA12	OMIM:618244
HP:0011362	Abnormal hair quantity	55967	NDUFA12	ORPHA:255241
HP:0011362	Abnormal hair quantity	57492	ARID1B	OMIM:135900
HP:0011362	Abnormal hair quantity	57492	ARID1B	ORPHA:1465
HP:0011362	Abnormal hair quantity	22930	RAB3GAP1	OMIM:600118
HP:0011362	Abnormal hair quantity	4125	MAN2B1	OMIM:248500
HP:0011362	Abnormal hair quantity	6601	SMARCC2	OMIM:618362
HP:0011362	Abnormal hair quantity	6601	SMARCC2	ORPHA:1465
HP:0011362	Abnormal hair quantity	3899	AFF3	OMIM:619297
HP:0011362	Abnormal hair quantity	3643	INSR	OMIM:246200
HP:0011362	Abnormal hair quantity	3643	INSR	OMIM:262190
HP:0011362	Abnormal hair quantity	3643	INSR	ORPHA:508
HP:0011362	Abnormal hair quantity	3643	INSR	ORPHA:769
HP:0011362	Abnormal hair quantity	5119	CHMP1A	OMIM:614961
HP:0011362	Abnormal hair quantity	6597	SMARCA4	ORPHA:1465
HP:0011362	Abnormal hair quantity	6597	SMARCA4	OMIM:614609
HP:0011362	Abnormal hair quantity	6598	SMARCB1	ORPHA:1465
HP:0011362	Abnormal hair quantity	6598	SMARCB1	OMIM:614608
HP:0011362	Abnormal hair quantity	6659	SOX4	ORPHA:1465
HP:0011362	Abnormal hair quantity	8289	ARID1A	ORPHA:1465
HP:0011362	Abnormal hair quantity	5977	DPF2	ORPHA:1465
HP:0011362	Abnormal hair quantity	6602	SMARCD1	ORPHA:1465
HP:0011362	Abnormal hair quantity	196528	ARID2	ORPHA:1465
HP:0011362	Abnormal hair quantity	6605	SMARCE1	ORPHA:1465
HP:0011362	Abnormal hair quantity	6664	SOX11	ORPHA:1465
HP:0011362	Abnormal hair quantity	6664	SOX11	OMIM:615866
HP:0011362	Abnormal hair quantity	3858	KRT10	OMIM:609165
HP:0011362	Abnormal hair quantity	84133	ZNRF3	ORPHA:1501
HP:0011362	Abnormal hair quantity	7157	TP53	ORPHA:1501
HP:0011362	Abnormal hair quantity	5573	PRKAR1A	ORPHA:1501
HP:0011362	Abnormal hair quantity	1499	CTNNB1	ORPHA:1501
HP:0011362	Abnormal hair quantity	1029	CDKN2A	ORPHA:1501
HP:0011362	Abnormal hair quantity	7015	TERT	ORPHA:1501
HP:0011362	Abnormal hair quantity	171023	ASXL1	ORPHA:97297
HP:0011362	Abnormal hair quantity	171023	ASXL1	OMIM:605039
HP:0011362	Abnormal hair quantity	283987	HID1	OMIM:619983
HP:0011362	Abnormal hair quantity	633	BGN	OMIM:300989
HP:0011362	Abnormal hair quantity	23028	KDM1A	ORPHA:477993
HP:0011362	Abnormal hair quantity	57231	SNX14	OMIM:616354
HP:0011362	Abnormal hair quantity	55148	UBR7	OMIM:619189
HP:0011362	Abnormal hair quantity	51729	WBP11	OMIM:619227
HP:0011362	Abnormal hair quantity	3782	KCNN3	OMIM:618658
HP:0011362	Abnormal hair quantity	5498	PPOX	ORPHA:79473
HP:0011362	Abnormal hair quantity	26040	SETBP1	OMIM:269150
HP:0011362	Abnormal hair quantity	1075	CTSC	ORPHA:678
HP:0011362	Abnormal hair quantity	50801	KCNK4	OMIM:618381
HP:0011362	Abnormal hair quantity	1798	DPAGT1	ORPHA:86309
HP:0011362	Abnormal hair quantity	10664	CTCF	ORPHA:363611
HP:0011362	Abnormal hair quantity	9851	KIAA0753	OMIM:619479
HP:0011362	Abnormal hair quantity	23512	SUZ12	OMIM:618786
HP:0011362	Abnormal hair quantity	23461	ABCA5	OMIM:135400
HP:0011362	Abnormal hair quantity	3572	IL6ST	OMIM:619750
HP:0011362	Abnormal hair quantity	22931	RAB18	OMIM:614222
HP:0011362	Abnormal hair quantity	29957	SLC25A24	OMIM:612289
HP:0011362	Abnormal hair quantity	8239	USP9X	ORPHA:480880
HP:0011362	Abnormal hair quantity	8239	USP9X	OMIM:300968
HP:0011362	Abnormal hair quantity	5593	PRKG2	OMIM:619636
HP:0011362	Abnormal hair quantity	54499	TMCO1	OMIM:213980
HP:0011362	Abnormal hair quantity	5293	PIK3CD	ORPHA:221139
HP:0011362	Abnormal hair quantity	90417	KNSTRN	ORPHA:221139
HP:0011362	Abnormal hair quantity	25915	NDUFAF3	ORPHA:70474
HP:0011362	Abnormal hair quantity	4714	NDUFB8	ORPHA:70474
HP:0011362	Abnormal hair quantity	4720	NDUFS2	ORPHA:70474
HP:0011362	Abnormal hair quantity	4720	NDUFS2	ORPHA:255241
HP:0011362	Abnormal hair quantity	9997	SCO2	ORPHA:70474
HP:0011362	Abnormal hair quantity	6834	SURF1	ORPHA:70474
HP:0011362	Abnormal hair quantity	6834	SURF1	ORPHA:255241
HP:0011362	Abnormal hair quantity	8314	BAP1	OMIM:619762
HP:0011362	Abnormal hair quantity	374879	ZNF699	OMIM:619488
HP:0011362	Abnormal hair quantity	5594	MAPK1	OMIM:619087
HP:0011362	Abnormal hair quantity	10293	TRAIP	OMIM:616777
HP:0011362	Abnormal hair quantity	641	BLM	OMIM:210900
HP:0011362	Abnormal hair quantity	9772	TMEM94	OMIM:618316
HP:0011362	Abnormal hair quantity	118924	FRA10AC1	OMIM:620113
HP:0011362	Abnormal hair quantity	55252	ASXL2	OMIM:617190
HP:0011362	Abnormal hair quantity	6389	SDHA	ORPHA:255241
HP:0011362	Abnormal hair quantity	80704	SLC19A3	ORPHA:255241
HP:0011362	Abnormal hair quantity	91942	NDUFAF2	ORPHA:255241
HP:0011362	Abnormal hair quantity	4723	NDUFV1	ORPHA:255241
HP:0011362	Abnormal hair quantity	55572	FOXRED1	ORPHA:255241
HP:0011362	Abnormal hair quantity	4729	NDUFV2	ORPHA:255241
HP:0011362	Abnormal hair quantity	51204	TACO1	ORPHA:255241
HP:0011362	Abnormal hair quantity	4724	NDUFS4	ORPHA:255241
HP:0011362	Abnormal hair quantity	4728	NDUFS8	ORPHA:255241
HP:0011362	Abnormal hair quantity	137682	NDUFAF6	ORPHA:255241
HP:0011362	Abnormal hair quantity	4722	NDUFS3	ORPHA:255241
HP:0011362	Abnormal hair quantity	79133	NDUFAF5	ORPHA:255241
HP:0011362	Abnormal hair quantity	5160	PDHA1	ORPHA:255241
HP:0011362	Abnormal hair quantity	100131801	PET100	ORPHA:255241
HP:0011362	Abnormal hair quantity	1355	COX15	ORPHA:255241
HP:0011362	Abnormal hair quantity	1892	ECHS1	ORPHA:255241
HP:0011362	Abnormal hair quantity	123263	MTFMT	ORPHA:255241
HP:0011362	Abnormal hair quantity	51079	NDUFA13	ORPHA:255241
HP:0011362	Abnormal hair quantity	374291	NDUFS7	ORPHA:255241
HP:0011362	Abnormal hair quantity	4705	NDUFA10	ORPHA:255241
HP:0011362	Abnormal hair quantity	51601	LIPT1	ORPHA:255241
HP:0011362	Abnormal hair quantity	4719	NDUFS1	ORPHA:255241
HP:0011362	Abnormal hair quantity	4695	NDUFA2	ORPHA:255241
HP:0011362	Abnormal hair quantity	4697	NDUFA4	ORPHA:255241
HP:0011362	Abnormal hair quantity	4704	NDUFA9	ORPHA:255241
HP:0011362	Abnormal hair quantity	54941	RNF125	OMIM:616260
HP:0011362	Abnormal hair quantity	3423	IDS	OMIM:309900
HP:0011362	Abnormal hair quantity	2720	GLB1	OMIM:230500
HP:0011362	Abnormal hair quantity	138050	HGSNAT	OMIM:252930
HP:0011362	Abnormal hair quantity	5468	PPARG	ORPHA:528
HP:0011362	Abnormal hair quantity	10555	AGPAT2	ORPHA:528
HP:0011362	Abnormal hair quantity	284119	CAVIN1	ORPHA:528
HP:0011362	Abnormal hair quantity	26580	BSCL2	ORPHA:528
HP:0011362	Abnormal hair quantity	2353	FOS	ORPHA:528
HP:0011362	Abnormal hair quantity	857	CAV1	ORPHA:528
HP:0011362	Abnormal hair quantity	11011	TLK2	OMIM:618050
HP:0011362	Abnormal hair quantity	116150	NUS1	OMIM:617082
HP:0011362	Abnormal hair quantity	127534	GJB4	OMIM:617524
HP:0011362	Abnormal hair quantity	55315	SLC29A3	ORPHA:168569
HP:0011362	Abnormal hair quantity	2719	GPC3	OMIM:312870
HP:0011362	Abnormal hair quantity	2239	GPC4	OMIM:312870
HP:0011362	Abnormal hair quantity	137492	VPS37A	OMIM:614898
HP:0011362	Abnormal hair quantity	5696	PSMB8	OMIM:256040
HP:0011362	Abnormal hair quantity	8243	SMC1A	OMIM:300590
HP:0011362	Abnormal hair quantity	8243	SMC1A	OMIM:301044
HP:0011362	Abnormal hair quantity	10128	LRPPRC	OMIM:220111
HP:0011362	Abnormal hair quantity	6448	SGSH	OMIM:252900
HP:0011362	Abnormal hair quantity	23394	ADNP	ORPHA:404448
HP:0011362	Abnormal hair quantity	23013	SPEN	OMIM:619312
HP:0011362	Abnormal hair quantity	9210	BMP15	OMIM:300510
HP:0011362	Abnormal hair quantity	124997	WDR81	OMIM:610185
HP:0011362	Abnormal hair quantity	6885	MAP3K7	OMIM:617137
HP:0011362	Abnormal hair quantity	6650	CAPN15	OMIM:619318
HP:0011362	Abnormal hair quantity	2908	NR3C1	ORPHA:786
HP:0011362	Abnormal hair quantity	2908	NR3C1	ORPHA:96253
HP:0011362	Abnormal hair quantity	2908	NR3C1	OMIM:615962
HP:0011362	Abnormal hair quantity	411	ARSB	OMIM:253200
HP:0011362	Abnormal hair quantity	5447	POR	ORPHA:95699
HP:0011362	Abnormal hair quantity	55593	OTUD5	OMIM:301056
HP:0011362	Abnormal hair quantity	55869	HDAC8	OMIM:300882
HP:0011362	Abnormal hair quantity	10847	SRCAP	OMIM:136140
HP:0011362	Abnormal hair quantity	54453	RIN2	ORPHA:217335
HP:0011362	Abnormal hair quantity	170302	ARX	OMIM:300004
HP:0011362	Abnormal hair quantity	80816	ASXL3	OMIM:615485
HP:0011362	Abnormal hair quantity	51506	UFC1	OMIM:618076
HP:0011362	Abnormal hair quantity	4081	MAB21L1	OMIM:618479
HP:0011362	Abnormal hair quantity	3097	HIVEP2	OMIM:616977
HP:0011362	Abnormal hair quantity	3284	HSD3B2	ORPHA:90791
HP:0011362	Abnormal hair quantity	9126	SMC3	OMIM:610759
HP:0011362	Abnormal hair quantity	4131	MAP1B	OMIM:618918
HP:0011362	Abnormal hair quantity	50940	PDE11A	ORPHA:1359
HP:0011362	Abnormal hair quantity	50940	PDE11A	ORPHA:189439
HP:0011362	Abnormal hair quantity	1584	CYP11B1	ORPHA:90795
HP:0011362	Abnormal hair quantity	6904	TBCD	ORPHA:496641
HP:0011362	Abnormal hair quantity	84196	USP48	ORPHA:96253
HP:0011362	Abnormal hair quantity	9101	USP8	ORPHA:96253
HP:0011362	Abnormal hair quantity	9101	USP8	OMIM:219090
HP:0011362	Abnormal hair quantity	64072	CDH23	ORPHA:96253
HP:0011362	Abnormal hair quantity	546	ATRX	ORPHA:96253
HP:0011362	Abnormal hair quantity	2530	FUT8	OMIM:618005
HP:0011362	Abnormal hair quantity	8913	CACNA1G	OMIM:618087
HP:0011362	Abnormal hair quantity	1020	CDK5	OMIM:616342
HP:0011362	Abnormal hair quantity	4853	NOTCH2	OMIM:102500
HP:0011362	Abnormal hair quantity	7965	AIMP2	OMIM:618006
HP:0011362	Abnormal hair quantity	84100	ARL6	OMIM:209900
HP:0011362	Abnormal hair quantity	79140	CCDC28B	OMIM:209900
HP:0011362	Abnormal hair quantity	582	BBS1	OMIM:209900
HP:0011362	Abnormal hair quantity	1201	CLN3	ORPHA:228346
HP:0011362	Abnormal hair quantity	114034	TOE1	OMIM:614969
HP:0011362	Abnormal hair quantity	4323	MMP14	OMIM:277950
HP:0011362	Abnormal hair quantity	4323	MMP14	ORPHA:371428
HP:0011362	Abnormal hair quantity	3339	HSPG2	ORPHA:1865
HP:0011362	Abnormal hair quantity	4313	MMP2	ORPHA:371428
HP:0011362	Abnormal hair quantity	4313	MMP2	OMIM:259600
HP:0011362	Abnormal hair quantity	7319	UBE2A	OMIM:300860
HP:0011362	Abnormal hair quantity	9509	ADAMTS2	OMIM:225410
HP:0011362	Abnormal hair quantity	7403	KDM6A	OMIM:300867
HP:0011362	Abnormal hair quantity	7403	KDM6A	OMIM:147920
HP:0011362	Abnormal hair quantity	128637	TBC1D20	OMIM:615663
HP:0011362	Abnormal hair quantity	4214	MAP3K1	OMIM:613762
HP:0011362	Abnormal hair quantity	93627	TBCK	ORPHA:488632
HP:0011362	Abnormal hair quantity	2783	GNB2	OMIM:619503
HP:0011362	Abnormal hair quantity	9049	AIP	OMIM:219090
HP:0011362	Abnormal hair quantity	3425	IDUA	OMIM:607014
HP:0011362	Abnormal hair quantity	3425	IDUA	OMIM:607015
HP:0011362	Abnormal hair quantity	4247	MGAT2	OMIM:212066
HP:0011362	Abnormal hair quantity	4247	MGAT2	ORPHA:79329
HP:0011362	Abnormal hair quantity	9563	H6PD	OMIM:604931
HP:0011362	Abnormal hair quantity	2074	ERCC6	OMIM:214150
HP:0011362	Abnormal hair quantity	7840	ALMS1	ORPHA:64
HP:0011362	Abnormal hair quantity	1267	CNP	OMIM:619071
HP:0011362	Abnormal hair quantity	6608	SMO	OMIM:601707
HP:0011362	Abnormal hair quantity	10526	IPO8	OMIM:619472
HP:0011362	Abnormal hair quantity	84504	NKX6-2	ORPHA:527497
HP:0011362	Abnormal hair quantity	5566	PRKACA	OMIM:615830
HP:0011362	Abnormal hair quantity	5566	PRKACA	ORPHA:189439
HP:0011362	Abnormal hair quantity	2737	GLI3	OMIM:175700
HP:0011362	Abnormal hair quantity	8622	PDE8B	ORPHA:189439
HP:0011362	Abnormal hair quantity	6134	RPL10	ORPHA:459070
HP:0011362	Abnormal hair quantity	9060	PAPSS2	OMIM:612847
HP:0011362	Abnormal hair quantity	10236	HNRNPR	OMIM:620073
HP:0011362	Abnormal hair quantity	7204	TRIO	OMIM:617061
HP:0011362	Abnormal hair quantity	6872	TAF1	OMIM:300966
HP:0011362	Abnormal hair quantity	57477	SHROOM4	ORPHA:85288
HP:0011362	Abnormal hair quantity	2263	FGFR2	OMIM:614592
HP:0011362	Abnormal hair quantity	2263	FGFR2	ORPHA:313855
HP:0011362	Abnormal hair quantity	91875	TTC5	OMIM:619244
HP:0011362	Abnormal hair quantity	79798	ARMC5	ORPHA:189427
HP:0011362	Abnormal hair quantity	2778	GNAS	ORPHA:189427
HP:0011362	Abnormal hair quantity	9373	PLAA	ORPHA:521426
HP:0011362	Abnormal hair quantity	9373	PLAA	OMIM:617527
HP:0011362	Abnormal hair quantity	7841	MOGS	ORPHA:79330
HP:0011362	Abnormal hair quantity	55691	FRMD4A	OMIM:616819
HP:0011362	Abnormal hair quantity	55691	FRMD4A	ORPHA:466688
HP:0011362	Abnormal hair quantity	10020	GNE	OMIM:269921
HP:0011362	Abnormal hair quantity	6603	SMARCD2	OMIM:617475
HP:0011362	Abnormal hair quantity	1315	COPB1	OMIM:619255
HP:0011362	Abnormal hair quantity	2990	GUSB	OMIM:253220
HP:0011362	Abnormal hair quantity	64919	BCL11B	OMIM:617237
HP:0011362	Abnormal hair quantity	8481	OFD1	OMIM:300804
HP:0011362	Abnormal hair quantity	25836	NIPBL	OMIM:122470
HP:0011362	Abnormal hair quantity	54187	NANS	OMIM:610442
HP:0011362	Abnormal hair quantity	51322	WAC	OMIM:616708
HP:0011362	Abnormal hair quantity	51322	WAC	ORPHA:466950
HP:0011362	Abnormal hair quantity	2492	FSHR	ORPHA:64739
HP:0011362	Abnormal hair quantity	147372	CCBE1	OMIM:235510
HP:0011362	Abnormal hair quantity	4848	CNOT2	OMIM:618608
HP:0011362	Abnormal hair quantity	64131	XYLT1	ORPHA:370930
HP:0011362	Abnormal hair quantity	55553	SOX6	OMIM:618971
HP:0011362	Abnormal hair quantity	284361	EMC10	OMIM:619264
HP:0011362	Abnormal hair quantity	84823	LMNB2	OMIM:608709
HP:0011362	Abnormal hair quantity	29072	SETD2	OMIM:616831
HP:0011362	Abnormal hair quantity	6878	TAF6	OMIM:617126
HP:0011362	Abnormal hair quantity	4669	NAGLU	OMIM:252920
HP:0011362	Abnormal hair quantity	8085	KMT2D	OMIM:147920
HP:0011362	Abnormal hair quantity	26191	PTPN22	ORPHA:397
HP:0011362	Abnormal hair quantity	3106	HLA-B	ORPHA:397
HP:0011362	Abnormal hair quantity	3123	HLA-DRB1	ORPHA:397
HP:0011362	Abnormal hair quantity	3123	HLA-DRB1	ORPHA:797
HP:0011362	Abnormal hair quantity	8974	P4HA2	ORPHA:397
HP:0011362	Abnormal hair quantity	1736	DKC1	OMIM:305000
HP:0011362	Abnormal hair quantity	1736	DKC1	ORPHA:1775
HP:0011362	Abnormal hair quantity	51099	ABHD5	OMIM:275630
HP:0011362	Abnormal hair quantity	51099	ABHD5	ORPHA:98907
HP:0011362	Abnormal hair quantity	6720	SREBF1	OMIM:158310
HP:0011362	Abnormal hair quantity	162	AP1B1	OMIM:242150
HP:0011362	Abnormal hair quantity	4790	NFKB1	OMIM:616576
HP:0011362	Abnormal hair quantity	3141	HLCS	OMIM:253270
HP:0011362	Abnormal hair quantity	3141	HLCS	ORPHA:79242
HP:0011362	Abnormal hair quantity	10908	PNPLA6	OMIM:275400
HP:0011362	Abnormal hair quantity	5818	NECTIN1	ORPHA:3253
HP:0011362	Abnormal hair quantity	7298	TYMS	OMIM:620040
HP:0011362	Abnormal hair quantity	7298	TYMS	ORPHA:1775
HP:0011362	Abnormal hair quantity	90	ACVR1	OMIM:135100
HP:0011362	Abnormal hair quantity	90	ACVR1	ORPHA:337
HP:0011362	Abnormal hair quantity	7780	SLC30A2	OMIM:608118
HP:0011362	Abnormal hair quantity	284058	KANSL1	ORPHA:363958
HP:0011362	Abnormal hair quantity	284058	KANSL1	ORPHA:363965
HP:0011362	Abnormal hair quantity	26277	TINF2	OMIM:613990
HP:0011362	Abnormal hair quantity	26277	TINF2	OMIM:127550
HP:0011362	Abnormal hair quantity	26277	TINF2	ORPHA:1775
HP:0011362	Abnormal hair quantity	50814	NSDHL	OMIM:308050
HP:0011362	Abnormal hair quantity	686	BTD	OMIM:253260
HP:0011362	Abnormal hair quantity	686	BTD	ORPHA:79241
HP:0011362	Abnormal hair quantity	3117	HLA-DQA1	OMIM:212750
HP:0011362	Abnormal hair quantity	3119	HLA-DQB1	OMIM:212750
HP:0011362	Abnormal hair quantity	64359	NXN	ORPHA:1507
HP:0011362	Abnormal hair quantity	4920	ROR2	ORPHA:1507
HP:0011362	Abnormal hair quantity	64087	MCCC2	OMIM:210210
HP:0011362	Abnormal hair quantity	5191	PEX7	OMIM:215100
HP:0011362	Abnormal hair quantity	1281	COL3A1	ORPHA:286
HP:0011362	Abnormal hair quantity	215	ABCD1	OMIM:300100
HP:0011362	Abnormal hair quantity	2313	FLI1	OMIM:617443
HP:0011362	Abnormal hair quantity	5073	PARN	OMIM:616353
HP:0011362	Abnormal hair quantity	5073	PARN	ORPHA:1775
HP:0011362	Abnormal hair quantity	374393	FAM111B	OMIM:615704
HP:0011362	Abnormal hair quantity	165	AEBP1	ORPHA:536532
HP:0011362	Abnormal hair quantity	55131	RBM28	ORPHA:157954
HP:0011362	Abnormal hair quantity	55131	RBM28	OMIM:612079
HP:0011362	Abnormal hair quantity	5339	PLEC	OMIM:616487
HP:0011362	Abnormal hair quantity	5339	PLEC	ORPHA:257
HP:0011362	Abnormal hair quantity	23312	DMXL2	ORPHA:453533
HP:0011362	Abnormal hair quantity	8456	FOXN1	OMIM:601705
HP:0011362	Abnormal hair quantity	1857	DVL3	ORPHA:3107
HP:0011362	Abnormal hair quantity	7474	WNT5A	ORPHA:3107
HP:0011362	Abnormal hair quantity	1855	DVL1	ORPHA:3107
HP:0011362	Abnormal hair quantity	2535	FZD2	ORPHA:3107
HP:0011362	Abnormal hair quantity	1909	EDNRA	OMIM:616367
HP:0011362	Abnormal hair quantity	80067	DCAF17	ORPHA:3464
HP:0011362	Abnormal hair quantity	80067	DCAF17	OMIM:241080
HP:0011362	Abnormal hair quantity	51284	TLR7	OMIM:301080
HP:0011362	Abnormal hair quantity	64421	DCLRE1C	OMIM:603554
HP:0011362	Abnormal hair quantity	64421	DCLRE1C	ORPHA:39041
HP:0011362	Abnormal hair quantity	5896	RAG1	OMIM:603554
HP:0011362	Abnormal hair quantity	5896	RAG1	ORPHA:39041
HP:0011362	Abnormal hair quantity	5897	RAG2	OMIM:603554
HP:0011362	Abnormal hair quantity	5897	RAG2	ORPHA:39041
HP:0011362	Abnormal hair quantity	3575	IL7R	ORPHA:169154
HP:0011362	Abnormal hair quantity	3575	IL7R	ORPHA:39041
HP:0011362	Abnormal hair quantity	4256	MGP	ORPHA:85202
HP:0011362	Abnormal hair quantity	2512	FTL	OMIM:615604
HP:0011362	Abnormal hair quantity	695	BTK	ORPHA:47
HP:0011362	Abnormal hair quantity	84168	ANTXR1	OMIM:230740
HP:0011362	Abnormal hair quantity	84168	ANTXR1	ORPHA:2067
HP:0011362	Abnormal hair quantity	50943	FOXP3	ORPHA:37042
HP:0011362	Abnormal hair quantity	50943	FOXP3	OMIM:304790
HP:0011362	Abnormal hair quantity	1476	CSTB	ORPHA:248
HP:0011362	Abnormal hair quantity	617	BCS1L	ORPHA:123
HP:0011362	Abnormal hair quantity	617	BCS1L	OMIM:262000
HP:0011362	Abnormal hair quantity	5654	HTRA1	OMIM:600142
HP:0011362	Abnormal hair quantity	1493	CTLA4	ORPHA:2584
HP:0011362	Abnormal hair quantity	1493	CTLA4	ORPHA:3162
HP:0011362	Abnormal hair quantity	940	CD28	ORPHA:2584
HP:0011362	Abnormal hair quantity	940	CD28	ORPHA:3162
HP:0011362	Abnormal hair quantity	7133	TNFRSF1B	ORPHA:2584
HP:0011362	Abnormal hair quantity	7133	TNFRSF1B	ORPHA:3162
HP:0011362	Abnormal hair quantity	2068	ERCC2	ORPHA:910
HP:0011362	Abnormal hair quantity	7507	XPA	ORPHA:910
HP:0011362	Abnormal hair quantity	2071	ERCC3	ORPHA:910
HP:0011362	Abnormal hair quantity	7508	XPC	ORPHA:910
HP:0011362	Abnormal hair quantity	1643	DDB2	ORPHA:910
HP:0011362	Abnormal hair quantity	2072	ERCC4	ORPHA:910
HP:0011362	Abnormal hair quantity	2073	ERCC5	ORPHA:910
HP:0011362	Abnormal hair quantity	7051	TGM1	OMIM:242300
HP:0011362	Abnormal hair quantity	7051	TGM1	ORPHA:100976
HP:0011362	Abnormal hair quantity	7051	TGM1	ORPHA:79394
HP:0011362	Abnormal hair quantity	2767	GNA11	ORPHA:428
HP:0011362	Abnormal hair quantity	846	CASR	ORPHA:428
HP:0011362	Abnormal hair quantity	6775	STAT4	ORPHA:93552
HP:0011362	Abnormal hair quantity	6696	SPP1	ORPHA:93552
HP:0011362	Abnormal hair quantity	3654	IRAK1	ORPHA:93552
HP:0011362	Abnormal hair quantity	55630	SLC39A4	ORPHA:37
HP:0011362	Abnormal hair quantity	1294	COL7A1	OMIM:226600
HP:0011362	Abnormal hair quantity	4312	MMP1	OMIM:226600
HP:0011362	Abnormal hair quantity	8882	ZPR1	OMIM:619321
HP:0011362	Abnormal hair quantity	7012	TERC	OMIM:127550
HP:0011362	Abnormal hair quantity	7012	TERC	ORPHA:1775
HP:0011362	Abnormal hair quantity	114798	SLITRK1	OMIM:613229
HP:0011362	Abnormal hair quantity	545	ATR	OMIM:614564
HP:0011362	Abnormal hair quantity	22845	DOLK	OMIM:610768
HP:0011362	Abnormal hair quantity	197131	UBR1	ORPHA:2315
HP:0011362	Abnormal hair quantity	7286	TUFT1	OMIM:607655
HP:0011362	Abnormal hair quantity	23328	SASH1	OMIM:618373
HP:0011362	Abnormal hair quantity	57572	DOCK6	OMIM:614219
HP:0011362	Abnormal hair quantity	57572	DOCK6	ORPHA:974
HP:0011362	Abnormal hair quantity	3868	KRT16	ORPHA:2309
HP:0011362	Abnormal hair quantity	3872	KRT17	ORPHA:2309
HP:0011362	Abnormal hair quantity	3853	KRT6A	ORPHA:2309
HP:0011362	Abnormal hair quantity	3854	KRT6B	ORPHA:2309
HP:0011362	Abnormal hair quantity	56244	BTNL2	ORPHA:797
HP:0011362	Abnormal hair quantity	650	BMP2	OMIM:235200
HP:0011362	Abnormal hair quantity	242	ALOX12B	OMIM:242100
HP:0011362	Abnormal hair quantity	242	ALOX12B	ORPHA:79394
HP:0011362	Abnormal hair quantity	59344	ALOXE3	OMIM:242100
HP:0011362	Abnormal hair quantity	59344	ALOXE3	ORPHA:79394
HP:0011362	Abnormal hair quantity	57514	ARHGAP31	OMIM:100300
HP:0011362	Abnormal hair quantity	57514	ARHGAP31	ORPHA:974
HP:0011362	Abnormal hair quantity	5580	PRKCD	OMIM:615559
HP:0011362	Abnormal hair quantity	538	ATP7A	OMIM:309400
HP:0011362	Abnormal hair quantity	6023	RMRP	ORPHA:39041
HP:0011362	Abnormal hair quantity	3981	LIG4	ORPHA:39041
HP:0011362	Abnormal hair quantity	100	ADA	ORPHA:39041
HP:0011362	Abnormal hair quantity	3561	IL2RG	ORPHA:39041
HP:0011362	Abnormal hair quantity	3516	RBPJ	ORPHA:974
HP:0011362	Abnormal hair quantity	4851	NOTCH1	ORPHA:974
HP:0011362	Abnormal hair quantity	285203	EOGT	ORPHA:974
HP:0011362	Abnormal hair quantity	54567	DLL4	ORPHA:974
HP:0011362	Abnormal hair quantity	84905	ZNF341	OMIM:618282
HP:0011362	Abnormal hair quantity	5295	PIK3R1	ORPHA:3163
HP:0011362	Abnormal hair quantity	10273	STUB1	ORPHA:412057
HP:0011362	Abnormal hair quantity	100151683	RNU4ATAC	ORPHA:2636
HP:0011362	Abnormal hair quantity	8815	BANF1	OMIM:614008
HP:0011362	Abnormal hair quantity	341208	HEPHL1	OMIM:261990
HP:0011362	Abnormal hair quantity	80169	CTC1	ORPHA:1775
HP:0011362	Abnormal hair quantity	55651	NHP2	ORPHA:1775
HP:0011362	Abnormal hair quantity	79650	USB1	ORPHA:1775
HP:0011362	Abnormal hair quantity	55135	WRAP53	ORPHA:1775
HP:0011362	Abnormal hair quantity	51750	RTEL1	ORPHA:1775
HP:0011362	Abnormal hair quantity	4869	NPM1	ORPHA:1775
HP:0011362	Abnormal hair quantity	55505	NOP10	ORPHA:1775
HP:0011362	Abnormal hair quantity	204219	CERS3	ORPHA:79394
HP:0011362	Abnormal hair quantity	26154	ABCA12	ORPHA:79394
HP:0011362	Abnormal hair quantity	285848	PNPLA1	ORPHA:79394
HP:0011362	Abnormal hair quantity	348938	NIPAL4	ORPHA:79394
HP:0011362	Abnormal hair quantity	4014	LORICRIN	ORPHA:79395
HP:0011362	Abnormal hair quantity	3852	KRT5	ORPHA:79396
HP:0011362	Abnormal hair quantity	3852	KRT5	ORPHA:79397
HP:0011362	Abnormal hair quantity	3861	KRT14	ORPHA:79396
HP:0011362	Abnormal hair quantity	3861	KRT14	ORPHA:79397
HP:0011362	Abnormal hair quantity	875	CBS	ORPHA:394
HP:0011362	Abnormal hair quantity	54084	TSPEAR	OMIM:618180
HP:0011362	Abnormal hair quantity	10054	UBA2	OMIM:619959
HP:0011362	Abnormal hair quantity	9759	HDAC4	ORPHA:1001
HP:0011362	Abnormal hair quantity	775	CACNA1C	OMIM:620029
HP:0011362	Abnormal hair quantity	29998	BICRA	OMIM:619325
HP:0011362	Abnormal hair quantity	4952	OCRL	ORPHA:534
HP:0011362	Abnormal hair quantity	23522	KAT6B	OMIM:606170
HP:0011362	Abnormal hair quantity	23522	KAT6B	ORPHA:85201
HP:0011362	Abnormal hair quantity	7703	PCGF2	OMIM:618371
HP:0011362	Abnormal hair quantity	4914	NTRK1	OMIM:256800
HP:0011362	Abnormal hair quantity	5116	PCNT	OMIM:210720
HP:0011362	Abnormal hair quantity	5116	PCNT	ORPHA:808
HP:0011362	Abnormal hair quantity	9419	CRIPT	OMIM:615789
HP:0011362	Abnormal hair quantity	79669	C3orf52	OMIM:620177
HP:0011362	Abnormal hair quantity	1802	DPH2	OMIM:620062
HP:0011362	Abnormal hair quantity	2131	EXT1	ORPHA:502
HP:0011362	Abnormal hair quantity	4094	MAF	ORPHA:1272
HP:0011362	Abnormal hair quantity	4094	MAF	OMIM:601088
HP:0011362	Abnormal hair quantity	79971	WLS	OMIM:619648
HP:0011362	Abnormal hair quantity	1984	EIF5A	OMIM:619376
HP:0011362	Abnormal hair quantity	1062	CENPE	ORPHA:808
HP:0011362	Abnormal hair quantity	5932	RBBP8	ORPHA:808
HP:0011362	Abnormal hair quantity	79902	NUP85	ORPHA:808
HP:0011362	Abnormal hair quantity	84126	ATRIP	ORPHA:808
HP:0011362	Abnormal hair quantity	55835	CENPJ	ORPHA:808
HP:0011362	Abnormal hair quantity	22995	CEP152	ORPHA:808
HP:0011362	Abnormal hair quantity	10733	PLK4	ORPHA:808
HP:0011362	Abnormal hair quantity	65057	ACD	ORPHA:3322
HP:0011362	Abnormal hair quantity	9742	IFT140	OMIM:266920
HP:0011362	Abnormal hair quantity	5587	PRKD1	OMIM:617364
HP:0011362	Abnormal hair quantity	355	FAS	ORPHA:3437
HP:0011362	Abnormal hair quantity	25871	NEPRO	OMIM:618853
HP:0011362	Abnormal hair quantity	64858	DCLRE1B	OMIM:620133
HP:0011362	Abnormal hair quantity	3480	IGF1R	OMIM:270450
HP:0011362	Abnormal hair quantity	147495	APCDD1	OMIM:605389
HP:0011362	Abnormal hair quantity	200879	LIPH	OMIM:604379
HP:0011362	Abnormal hair quantity	9508	ADAMTS3	ORPHA:2136
HP:0011362	Abnormal hair quantity	79633	FAT4	ORPHA:2136
HP:0011362	Abnormal hair quantity	3122	HLA-DRA	ORPHA:505
HP:0011362	Abnormal hair quantity	284252	KCTD1	OMIM:181270
HP:0011362	Abnormal hair quantity	2488	FSHB	ORPHA:52901
HP:0011362	Abnormal hair quantity	3972	LHB	OMIM:228300
HP:0011362	Abnormal hair quantity	1528	CYB5A	ORPHA:90796
HP:0011362	Abnormal hair quantity	6144	RPL21	OMIM:615885
HP:0011362	Abnormal hair quantity	9723	SEMA3E	OMIM:146110
HP:0011362	Abnormal hair quantity	558	AXL	OMIM:146110
HP:0011362	Abnormal hair quantity	2798	GNRHR	OMIM:146110
HP:0011362	Abnormal hair quantity	2796	GNRH1	OMIM:146110
HP:0011362	Abnormal hair quantity	10011	SRA1	OMIM:146110
HP:0011362	Abnormal hair quantity	55717	WDR11	OMIM:146110
HP:0011362	Abnormal hair quantity	8822	FGF17	OMIM:146110
HP:0011362	Abnormal hair quantity	1848	DUSP6	OMIM:146110
HP:0011362	Abnormal hair quantity	81848	SPRY4	OMIM:146110
HP:0011362	Abnormal hair quantity	285025	CCDC141	OMIM:146110
HP:0011362	Abnormal hair quantity	389549	FEZF1	OMIM:146110
HP:0011362	Abnormal hair quantity	1825	DSC3	OMIM:613102
HP:0011362	Abnormal hair quantity	10161	LPAR6	OMIM:278150
HP:0011362	Abnormal hair quantity	6662	SOX9	ORPHA:251510
HP:0011362	Abnormal hair quantity	6845	VAMP7	ORPHA:251510
HP:0011362	Abnormal hair quantity	51741	WWOX	ORPHA:251510
HP:0011362	Abnormal hair quantity	2516	NR5A1	ORPHA:251510
HP:0011362	Abnormal hair quantity	7490	WT1	ORPHA:251510
HP:0011362	Abnormal hair quantity	58524	DMRT3	ORPHA:251510
HP:0011362	Abnormal hair quantity	57647	DHX37	ORPHA:251510
HP:0011362	Abnormal hair quantity	6736	SRY	ORPHA:251510
HP:0011362	Abnormal hair quantity	23414	ZFPM2	ORPHA:251510
HP:0011362	Abnormal hair quantity	190	NR0B1	ORPHA:251510
HP:0011362	Abnormal hair quantity	2626	GATA4	ORPHA:251510
HP:0011362	Abnormal hair quantity	23594	ORC6	OMIM:613803
HP:0011362	Abnormal hair quantity	1308	COL17A1	ORPHA:251393
HP:0011362	Abnormal hair quantity	145173	B3GLCT	OMIM:261540
HP:0011362	Abnormal hair quantity	7389	UROD	OMIM:176100
HP:0011362	Abnormal hair quantity	7389	UROD	ORPHA:95159
HP:0011362	Abnormal hair quantity	3077	HFE	OMIM:176100
HP:0011362	Abnormal hair quantity	3756	KCNH1	ORPHA:3473
HP:0011362	Abnormal hair quantity	2623	GATA1	ORPHA:79277
HP:0011362	Abnormal hair quantity	26137	ZBTB20	OMIM:259050
HP:0011362	Abnormal hair quantity	4047	LSS	OMIM:618275
HP:0011362	Abnormal hair quantity	348	APOE	OMIM:269600
HP:0011362	Abnormal hair quantity	3691	ITGB4	OMIM:619816
HP:0011362	Abnormal hair quantity	55012	PPP2R3C	OMIM:618419
HP:0011362	Abnormal hair quantity	6635	SNRPE	OMIM:615059
HP:0011362	Abnormal hair quantity	79574	EPS8L3	OMIM:612841
HP:0011362	Abnormal hair quantity	367	AR	ORPHA:99429
HP:0011362	Abnormal hair quantity	1586	CYP17A1	ORPHA:90793
HP:0011362	Abnormal hair quantity	6926	TBX3	ORPHA:3138
HP:0011362	Abnormal hair quantity	54345	SOX18	OMIM:137940
HP:0011362	Abnormal hair quantity	54345	SOX18	ORPHA:69735
HP:0011362	Abnormal hair quantity	54345	SOX18	OMIM:607823
HP:0011362	Abnormal hair quantity	5317	PKP1	OMIM:604536
HP:0011362	Abnormal hair quantity	4953	ODC1	OMIM:619075
HP:0011362	Abnormal hair quantity	4953	ODC1	ORPHA:544488
HP:0011362	Abnormal hair quantity	8313	AXIN2	OMIM:608615
HP:0011362	Abnormal hair quantity	1832	DSP	ORPHA:158687
HP:0011362	Abnormal hair quantity	3728	JUP	ORPHA:158687
HP:0011362	Abnormal hair quantity	3845	KRAS	OMIM:615278
HP:0011362	Abnormal hair quantity	673	BRAF	OMIM:115150
HP:0011362	Abnormal hair quantity	8092	ALX1	OMIM:613456
HP:0011362	Abnormal hair quantity	128178	EDARADD	OMIM:614941
HP:0011362	Abnormal hair quantity	64682	ANAPC1	OMIM:618625
HP:0011362	Abnormal hair quantity	11128	POLR3A	OMIM:264090
HP:0011362	Abnormal hair quantity	80144	FRAS1	OMIM:219000
HP:0011362	Abnormal hair quantity	3891	KRT85	OMIM:602032
HP:0011362	Abnormal hair quantity	55806	HR	ORPHA:701
HP:0011362	Abnormal hair quantity	55806	HR	OMIM:203655
HP:0011362	Abnormal hair quantity	10283	CWC27	ORPHA:166035
HP:0011362	Abnormal hair quantity	9401	RECQL4	OMIM:268400
HP:0011362	Abnormal hair quantity	10804	GJB6	ORPHA:189
HP:0011362	Abnormal hair quantity	4000	LMNA	ORPHA:740
HP:0011362	Abnormal hair quantity	4000	LMNA	ORPHA:363618
HP:0011362	Abnormal hair quantity	10269	ZMPSTE24	ORPHA:740
HP:0011362	Abnormal hair quantity	51360	MBTPS2	OMIM:308205
HP:0011362	Abnormal hair quantity	51360	MBTPS2	ORPHA:2273
HP:0011362	Abnormal hair quantity	5605	MAP2K2	OMIM:615280
HP:0011362	Abnormal hair quantity	117581	TWIST2	OMIM:200110
HP:0011362	Abnormal hair quantity	117581	TWIST2	ORPHA:920
HP:0011362	Abnormal hair quantity	84946	LTV1	OMIM:620199
HP:0011362	Abnormal hair quantity	1896	EDA	OMIM:305100
HP:0011362	Abnormal hair quantity	7390	UROS	OMIM:263700
HP:0011362	Abnormal hair quantity	5297	PI4KA	ORPHA:436252
HP:0011362	Abnormal hair quantity	57217	TTC7A	ORPHA:436252
HP:0011362	Abnormal hair quantity	6595	SMARCA2	OMIM:601358
HP:0011362	Abnormal hair quantity	54101	RIPK4	OMIM:263650
HP:0011362	Abnormal hair quantity	2697	GJA1	ORPHA:1010
HP:0011362	Abnormal hair quantity	89910	UBE3B	ORPHA:2707
HP:0011362	Abnormal hair quantity	1001	CDH3	ORPHA:1897
HP:0011362	Abnormal hair quantity	668	FOXL2	OMIM:110100
HP:0011362	Abnormal hair quantity	4193	MDM2	OMIM:618681
HP:0011362	Abnormal hair quantity	29893	PSMC3IP	ORPHA:243
HP:0011362	Abnormal hair quantity	171568	POLR3H	ORPHA:243
HP:0011362	Abnormal hair quantity	125150	ZSWIM7	ORPHA:243
HP:0011362	Abnormal hair quantity	57122	NUP107	ORPHA:243
HP:0011362	Abnormal hair quantity	23514	SPIDR	ORPHA:243
HP:0011362	Abnormal hair quantity	56945	MRPS22	ORPHA:243
HP:0011362	Abnormal hair quantity	646	BNC1	ORPHA:243
HP:0011362	Abnormal hair quantity	3730	ANOS1	OMIM:308700
HP:0011362	Abnormal hair quantity	23476	BRD4	ORPHA:199
HP:0011362	Abnormal hair quantity	5885	RAD21	ORPHA:199
HP:0011362	Abnormal hair quantity	92482	BBIP1	ORPHA:110
HP:0011362	Abnormal hair quantity	80184	CEP290	ORPHA:110
HP:0011362	Abnormal hair quantity	11020	IFT27	ORPHA:110
HP:0011362	Abnormal hair quantity	49855	SCAPER	ORPHA:110
HP:0011362	Abnormal hair quantity	4867	NPHP1	ORPHA:110
HP:0011362	Abnormal hair quantity	51057	WDPCP	ORPHA:110
HP:0011362	Abnormal hair quantity	27241	BBS9	ORPHA:110
HP:0011362	Abnormal hair quantity	84984	CEP19	ORPHA:110
HP:0011362	Abnormal hair quantity	22954	TRIM32	ORPHA:110
HP:0011362	Abnormal hair quantity	54903	MKS1	ORPHA:110
HP:0011362	Abnormal hair quantity	79738	BBS10	ORPHA:110
HP:0011362	Abnormal hair quantity	123016	TTC8	ORPHA:110
HP:0011362	Abnormal hair quantity	26160	IFT172	ORPHA:110
HP:0011362	Abnormal hair quantity	583	BBS2	ORPHA:110
HP:0011362	Abnormal hair quantity	585	BBS4	ORPHA:110
HP:0011362	Abnormal hair quantity	8195	MKKS	ORPHA:110
HP:0011362	Abnormal hair quantity	54585	LZTFL1	ORPHA:110
HP:0011362	Abnormal hair quantity	55212	BBS7	ORPHA:110
HP:0011362	Abnormal hair quantity	166379	BBS12	ORPHA:110
HP:0011362	Abnormal hair quantity	10806	SDCCAG8	ORPHA:110
HP:0011362	Abnormal hair quantity	157657	CFAP418	ORPHA:110
HP:0011362	Abnormal hair quantity	129880	BBS5	ORPHA:110
HP:0011362	Abnormal hair quantity	80173	IFT74	ORPHA:110
HP:0011362	Abnormal hair quantity	4157	MC1R	ORPHA:626
HP:0011362	Abnormal hair quantity	4893	NRAS	ORPHA:626
HP:0011362	Abnormal hair quantity	55777	MBD5	ORPHA:228402
HP:0011362	Abnormal hair quantity	5590	PRKCZ	ORPHA:1606
HP:0011362	Abnormal hair quantity	2563	GABRD	ORPHA:1606
HP:0011362	Abnormal hair quantity	8510	MMP23B	ORPHA:1606
HP:0011362	Abnormal hair quantity	7798	LUZP1	ORPHA:1606
HP:0011362	Abnormal hair quantity	6497	SKI	ORPHA:1606
HP:0011362	Abnormal hair quantity	10630	PDPN	ORPHA:1606
HP:0011362	Abnormal hair quantity	10277	UBE4B	ORPHA:1606
HP:0011362	Abnormal hair quantity	8514	KCNAB2	ORPHA:1606
HP:0011362	Abnormal hair quantity	473	RERE	ORPHA:1606
HP:0011362	Abnormal hair quantity	63976	PRDM16	ORPHA:1606
HP:0011362	Abnormal hair quantity	54897	CASZ1	ORPHA:1606
HP:0011362	Abnormal hair quantity	5728	PTEN	ORPHA:744
HP:0011362	Abnormal hair quantity	207	AKT1	ORPHA:744
HP:0011362	Abnormal hair quantity	63916	ELMO2	ORPHA:3019
HP:0011362	Abnormal hair quantity	7291	TWIST1	OMIM:617746
HP:0011362	Abnormal hair quantity	3764	KCNJ8	ORPHA:1517
HP:0011362	Abnormal hair quantity	10060	ABCC9	ORPHA:1517
HP:0011362	Abnormal hair quantity	4297	KMT2A	OMIM:605130
HP:0011362	Abnormal hair quantity	4297	KMT2A	ORPHA:319182
HP:0011362	Abnormal hair quantity	3664	IRF6	ORPHA:1300
HP:0011362	Abnormal hair quantity	83550	GPR101	ORPHA:963
HP:0011362	Abnormal hair quantity	25782	RAB3GAP2	ORPHA:2510
HP:0011362	Abnormal hair quantity	203068	TUBB	ORPHA:2505
HP:0011362	Abnormal hair quantity	10982	MAPRE2	ORPHA:2505
HP:0011362	Abnormal hair quantity	649	BMP1	OMIM:614856
HP:0011362	Abnormal hair quantity	2707	GJB3	ORPHA:317
HP:0011362	Abnormal hair quantity	2531	KDSR	ORPHA:317
HP:0011362	Abnormal hair quantity	8803	SUCLA2	ORPHA:1933
HP:0011362	Abnormal hair quantity	1588	CYP19A1	ORPHA:91
HP:0011362	Abnormal hair quantity	2260	FGFR1	ORPHA:432
HP:0011362	Abnormal hair quantity	128674	PROKR2	ORPHA:432
HP:0011362	Abnormal hair quantity	2253	FGF8	ORPHA:432
HP:0011362	Abnormal hair quantity	60675	PROK2	ORPHA:432
HP:0011362	Abnormal hair quantity	55636	CHD7	ORPHA:432
HP:0011362	Abnormal hair quantity	6870	TACR3	ORPHA:432
HP:0011362	Abnormal hair quantity	26012	NSMF	ORPHA:432
HP:0011362	Abnormal hair quantity	9394	HS6ST1	ORPHA:432
HP:0011362	Abnormal hair quantity	84634	KISS1R	ORPHA:432
HP:0011362	Abnormal hair quantity	6866	TAC3	ORPHA:432
HP:0011362	Abnormal hair quantity	3814	KISS1	ORPHA:432
HP:0011362	Abnormal hair quantity	80326	WNT10A	OMIM:224750
HP:0011362	Abnormal hair quantity	80326	WNT10A	OMIM:150400
HP:0011362	Abnormal hair quantity	80326	WNT10A	OMIM:257980
HP:0011362	Abnormal hair quantity	54800	KLHL24	OMIM:617294
HP:0011362	Abnormal hair quantity	197	AHSG	ORPHA:2850
HP:0011362	Abnormal hair quantity	3694	ITGB6	ORPHA:2850
HP:0011362	Abnormal hair quantity	60401	EDA2R	ORPHA:181
HP:0011362	Abnormal hair quantity	25959	KANK2	OMIM:616099
HP:0011362	Abnormal hair quantity	9076	CLDN1	ORPHA:59303
HP:0011362	Abnormal hair quantity	112802	KRT71	ORPHA:170
HP:0011362	Abnormal hair quantity	147183	KRT25	ORPHA:170
HP:0011362	Abnormal hair quantity	2332	FMR1	ORPHA:261483
HP:0011362	Abnormal hair quantity	3909	LAMA3	ORPHA:79402
HP:0011362	Abnormal hair quantity	3918	LAMC2	ORPHA:79402
HP:0011362	Abnormal hair quantity	6768	ST14	OMIM:602400
HP:0011362	Abnormal hair quantity	120766137	HRURF	OMIM:146550
HP:0011362	Abnormal hair quantity	1474	CST6	OMIM:618535
HP:0011362	Abnormal hair quantity	7189	TRAF6	ORPHA:1810
HP:0011362	Abnormal hair quantity	126695	KDF1	ORPHA:1810
HP:0011362	Abnormal hair quantity	10913	EDAR	ORPHA:1810
HP:0011362	Abnormal hair quantity	147409	DSG4	ORPHA:573
HP:0011362	Abnormal hair quantity	3892	KRT86	ORPHA:573
HP:0011362	Abnormal hair quantity	3889	KRT83	ORPHA:573
HP:0011362	Abnormal hair quantity	3887	KRT81	ORPHA:573
HP:0011362	Abnormal hair quantity	64840	PORCN	OMIM:305600
HP:0011362	Abnormal hair quantity	8242	KDM5C	OMIM:300534
HP:0011362	Abnormal hair quantity	8242	KDM5C	ORPHA:85279
HP:0011362	Abnormal hair quantity	3914	LAMB3	OMIM:226650
HP:0011362	Abnormal hair quantity	81607	NECTIN4	OMIM:613573
HP:0011362	Abnormal hair quantity	3265	HRAS	ORPHA:2874
HP:0011362	Abnormal hair quantity	10682	EBP	OMIM:302960
HP:0011362	Abnormal hair quantity	10682	EBP	ORPHA:35173
HP:0011362	Abnormal hair quantity	1893	ECM1	OMIM:247100
HP:0011362	Abnormal hair quantity	23404	EXOSC2	OMIM:617763
HP:0011362	Abnormal hair quantity	28755	TRAC	OMIM:615387
HP:0011362	Abnormal hair quantity	51702	PADI3	ORPHA:1410
HP:0011362	Abnormal hair quantity	7053	TGM3	ORPHA:1410
HP:0011362	Abnormal hair quantity	3559	IL2RA	OMIM:606367
HP:0011362	Abnormal hair quantity	326	AIRE	OMIM:240300
HP:0011362	Abnormal hair quantity	162514	TRPV3	OMIM:614594
HP:0011362	Abnormal hair quantity	7421	VDR	OMIM:277440
HP:0011362	Abnormal hair quantity	64065	PERP	OMIM:619208
HP:0011362	Abnormal hair quantity	404672	GTF2H5	ORPHA:33364
HP:0011362	Abnormal hair quantity	6897	TARS1	ORPHA:33364
HP:0011362	Abnormal hair quantity	2961	GTF2E2	ORPHA:33364
HP:0011362	Abnormal hair quantity	80781	COL18A1	OMIM:267750
HP:0011362	Abnormal hair quantity	10999	SLC27A4	OMIM:608649
HP:0011362	Abnormal hair quantity	7486	WRN	OMIM:277700
HP:0011362	Abnormal hair quantity	1041	CDSN	ORPHA:90368
HP:0011362	Abnormal hair quantity	121391	KRT74	ORPHA:90368
HP:0011362	Abnormal hair quantity	8517	IKBKG	OMIM:308300
HP:0011362	Abnormal hair quantity	387	RHOA	OMIM:618727
HP:0011362	Abnormal hair quantity	4758	NEU1	ORPHA:93399
HP:0011362	Abnormal hair quantity	4758	NEU1	ORPHA:93400
HP:0011362	Abnormal hair quantity	64324	NSD1	ORPHA:821
HP:0011362	Abnormal hair quantity	10297	APC2	ORPHA:821
HP:0011362	Abnormal hair quantity	283209	PGM2L1	OMIM:620191
HP:0011362	Abnormal hair quantity	4791	NFKB2	ORPHA:293978
HP:0011362	Abnormal hair quantity	4791	NFKB2	OMIM:615577
HP:0011362	Abnormal hair quantity	7386	UQCRFS1	OMIM:618775
HP:0011362	Abnormal hair quantity	60529	ALX4	OMIM:613451
HP:0011362	Abnormal hair quantity	10262	SF3B4	OMIM:154400
HP:0011362	Abnormal hair quantity	4487	MSX1	OMIM:189500
HP:0011362	Abnormal hair quantity	8036	SHOC2	OMIM:607721
HP:0011362	Abnormal hair quantity	83932	SPRTN	OMIM:616200
HP:0011362	Abnormal hair quantity	2132	EXT2	OMIM:616682
HP:0011362	Abnormal hair quantity	26128	KIFBP	OMIM:609460
HP:0011362	Abnormal hair quantity	57539	WDR35	OMIM:613610
HP:0011362	Abnormal hair quantity	57539	WDR35	ORPHA:1515
HP:0011362	Abnormal hair quantity	57539	WDR35	OMIM:614091
HP:0011362	Abnormal hair quantity	81857	MED25	OMIM:616449
HP:0011362	Abnormal hair quantity	9578	CDC42BPB	OMIM:619841
HP:0011362	Abnormal hair quantity	3021	H3-3B	OMIM:619721
HP:0011362	Abnormal hair quantity	3242	HPD	OMIM:140350
HP:0011362	Abnormal hair quantity	3242	HPD	ORPHA:2118
HP:0011362	Abnormal hair quantity	1161	ERCC8	OMIM:216400
HP:0011362	Abnormal hair quantity	79158	GNPTAB	OMIM:252500
HP:0011362	Abnormal hair quantity	112752	IFT43	ORPHA:1515
HP:0011362	Abnormal hair quantity	112752	IFT43	OMIM:614099
HP:0011362	Abnormal hair quantity	51098	IFT52	ORPHA:1515
HP:0011362	Abnormal hair quantity	55764	IFT122	ORPHA:1515
HP:0011362	Abnormal hair quantity	55764	IFT122	OMIM:218330
HP:0011362	Abnormal hair quantity	57728	WDR19	ORPHA:1515
HP:0011362	Abnormal hair quantity	816	CAMK2B	OMIM:617799
HP:0011362	Abnormal hair quantity	23545	ATP6V0A2	ORPHA:2834
HP:0011362	Abnormal hair quantity	23545	ATP6V0A2	OMIM:278250
HP:0011362	Abnormal hair quantity	23545	ATP6V0A2	ORPHA:357074
HP:0011362	Abnormal hair quantity	6499	SKIC2	OMIM:614602
HP:0011362	Abnormal hair quantity	23184	MESD	OMIM:618644
HP:0011362	Abnormal hair quantity	340061	STING1	OMIM:615934
HP:0011362	Abnormal hair quantity	7020	TFAP2A	OMIM:113620
HP:0011362	Abnormal hair quantity	23116	TOGARAM1	OMIM:619185
HP:0011362	Abnormal hair quantity	10484	SEC23A	OMIM:607812
HP:0011362	Abnormal hair quantity	10484	SEC23A	ORPHA:50814
HP:0011362	Abnormal hair quantity	497661	C18orf32	OMIM:619985
HP:0011362	Abnormal hair quantity	833	CARS1	OMIM:618891
HP:0011362	Abnormal hair quantity	8550	MAPKAPK5	OMIM:619869
HP:0011362	Abnormal hair quantity	23314	SATB2	OMIM:612313
HP:0011362	Abnormal hair quantity	23314	SATB2	ORPHA:251028
HP:0011362	Abnormal hair quantity	23314	SATB2	ORPHA:251019
HP:0011362	Abnormal hair quantity	200734	SPRED2	OMIM:619745
HP:0011362	Abnormal hair quantity	55623	THUMPD1	OMIM:619989
HP:0011362	Abnormal hair quantity	9487	PIGL	ORPHA:3474
HP:0011362	Abnormal hair quantity	9487	PIGL	OMIM:280000
HP:0011362	Abnormal hair quantity	23126	POGZ	OMIM:616364
HP:0011362	Abnormal hair quantity	157570	ESCO2	ORPHA:3103
HP:0011362	Abnormal hair quantity	157570	ESCO2	OMIM:268300
HP:0011362	Abnormal hair quantity	4089	SMAD4	OMIM:139210
HP:0011362	Abnormal hair quantity	2934	GSN	ORPHA:85448
HP:0011362	Abnormal hair quantity	5159	PDGFRB	OMIM:601812
HP:0011362	Abnormal hair quantity	9968	MED12	OMIM:305450
HP:0011362	Abnormal hair quantity	5832	ALDH18A1	OMIM:219150
HP:0011362	Abnormal hair quantity	84919	PPP1R15B	OMIM:616817
HP:0011362	Abnormal hair quantity	84919	PPP1R15B	ORPHA:391408
HP:0011362	Abnormal hair quantity	10430	TMEM147	OMIM:620075
HP:0011362	Abnormal hair quantity	9652	SKIC3	OMIM:222470
HP:0011362	Abnormal hair quantity	2146	EZH2	OMIM:277590
HP:0011362	Abnormal hair quantity	84295	PHF6	ORPHA:127
HP:0011362	Abnormal hair quantity	5631	PRPS1	OMIM:300661
HP:0011362	Abnormal hair quantity	867	CBL	OMIM:613563
HP:0011362	Abnormal hair quantity	7227	TRPS1	OMIM:190350
HP:0011362	Abnormal hair quantity	7227	TRPS1	OMIM:190351
HP:0011362	Abnormal hair quantity	7227	TRPS1	ORPHA:77258
HP:0011362	Abnormal hair quantity	1828	DSG1	OMIM:615508
HP:0011362	Abnormal hair quantity	57459	GATAD2B	OMIM:615074
HP:0011362	Abnormal hair quantity	2972	BRF1	ORPHA:444072
HP:0011362	Abnormal hair quantity	23030	KDM4B	OMIM:619320
HP:0011362	Abnormal hair quantity	3313	HSPA9	OMIM:616854
HP:0011362	Abnormal hair quantity	4792	NFKBIA	OMIM:612132
HP:0011362	Abnormal hair quantity	5831	PYCR1	OMIM:614438
HP:0011362	Abnormal hair quantity	999	CDH1	OMIM:119580
HP:0011362	Abnormal hair quantity	16	AARS1	OMIM:619691
HP:0011362	Abnormal hair quantity	10940	POP1	OMIM:617396
HP:0011362	Abnormal hair quantity	4141	MARS1	OMIM:619692
HP:0011362	Abnormal hair quantity	63035	BCORL1	OMIM:301029
HP:0011362	Abnormal hair quantity	10265	IRX5	OMIM:611174
HP:0011362	Abnormal hair quantity	5604	MAP2K1	ORPHA:1340
HP:0011362	Abnormal hair quantity	9056	SLC7A7	OMIM:222700
HP:0011362	Abnormal hair quantity	1301	COL11A1	ORPHA:560
HP:0011362	Abnormal hair quantity	3977	LIFR	OMIM:601559
HP:0011362	Abnormal hair quantity	4700	NDUFA6	OMIM:618253
HP:0011362	Abnormal hair quantity	79827	CLMP	ORPHA:2301
HP:0011362	Abnormal hair quantity	151516	ASPRV1	ORPHA:313
HP:0011362	Abnormal hair quantity	126410	CYP4F22	ORPHA:313
HP:0011362	Abnormal hair quantity	6820	SULT2B1	ORPHA:313
HP:0011362	Abnormal hair quantity	643418	LIPN	ORPHA:313
HP:0011362	Abnormal hair quantity	121214	SDR9C7	ORPHA:313
HP:0011362	Abnormal hair quantity	9791	PTDSS1	OMIM:151050
HP:0011362	Abnormal hair quantity	134218	DNAJC21	OMIM:617052
HP:0011362	Abnormal hair quantity	7737	RNF113A	OMIM:300953
HP:0011362	Abnormal hair quantity	490	ATP2B1	OMIM:619910
HP:0011362	Abnormal hair quantity	4329	ALDH6A1	OMIM:614105
HP:0011362	Abnormal hair quantity	136647	MPLKIP	OMIM:234050
HP:0011362	Abnormal hair quantity	9702	CEP57	OMIM:614114
HP:0011362	Abnormal hair quantity	5500	PPP1CB	OMIM:617506
HP:0011362	Abnormal hair quantity	54676	GTPBP2	OMIM:617988
HP:0011362	Abnormal hair quantity	93587	TRMT10A	ORPHA:391408
HP:0011362	Abnormal hair quantity	7480	WNT10B	OMIM:617073
HP:0011362	Abnormal hair quantity	10084	PQBP1	OMIM:309500
HP:0011362	Abnormal hair quantity	54888	NSUN2	OMIM:611091
HP:0011362	Abnormal hair quantity	523	ATP6V1A	ORPHA:357074
HP:0011362	Abnormal hair quantity	529	ATP6V1E1	ORPHA:357074
HP:0011362	Abnormal hair quantity	7518	XRCC4	OMIM:616541
HP:0011362	Abnormal hair quantity	5557	PRIM1	OMIM:620005
HP:0011362	Abnormal hair quantity	1788	DNMT3A	OMIM:618724
HP:0011362	Abnormal hair quantity	9757	KMT2B	OMIM:619934
HP:0011362	Abnormal hair quantity	84081	NSRP1	OMIM:620001
HP:0011362	Abnormal hair quantity	124583	CANT1	ORPHA:1425
HP:0011362	Abnormal hair quantity	55790	CSGALNACT1	ORPHA:1425
HP:0011362	Abnormal hair quantity	672	BRCA1	OMIM:617883
HP:0011362	Abnormal hair quantity	126792	B3GALT6	OMIM:615349
HP:0011362	Abnormal hair quantity	25886	POC1A	OMIM:614813
HP:0011362	Abnormal hair quantity	5184	PEPD	OMIM:170100
HP:0011362	Abnormal hair quantity	27125	AFF4	ORPHA:444077
HP:0011362	Abnormal hair quantity	54361	WNT4	ORPHA:247768
HP:0011362	Abnormal hair quantity	129285	PPP1R21	OMIM:619383
HP:0011362	Abnormal hair quantity	1371	CPOX	ORPHA:79273
HP:0011362	Abnormal hair quantity	6913	TBX15	OMIM:260660
HP:0011362	Abnormal hair quantity	2799	GNS	OMIM:252940
HP:0011362	Abnormal hair quantity	8626	TP63	OMIM:604292
HP:0011362	Abnormal hair quantity	55617	TASP1	OMIM:618950
HP:0011362	Abnormal hair quantity	54496	PRMT7	OMIM:617157
HP:0011362	Abnormal hair quantity	1387	CREBBP	OMIM:180849
HP:0011362	Abnormal hair quantity	2033	EP300	OMIM:180849
HP:0011362	Abnormal hair quantity	2316	FLNA	OMIM:309350
HP:0011362	Abnormal hair quantity	150468	CKAP2L	OMIM:272440
HP:0011362	Abnormal hair quantity	388015	RTL1	ORPHA:96334
HP:0011362	Abnormal hair quantity	8788	DLK1	ORPHA:96334
HP:0011362	Abnormal hair quantity	55384	MEG3	ORPHA:96334
HP:0011362	Abnormal hair quantity	8604	SLC25A12	OMIM:612949
HP:0011362	Abnormal hair quantity	435	ASL	ORPHA:23
HP:0011362	Abnormal hair quantity	5567	PRKACB	ORPHA:289
HP:0011362	Abnormal hair quantity	2735	GLI1	ORPHA:289
HP:0011362	Abnormal hair quantity	2121	EVC	ORPHA:289
HP:0011362	Abnormal hair quantity	51626	DYNC2LI1	ORPHA:289
HP:0011362	Abnormal hair quantity	132884	EVC2	ORPHA:289
HP:0011362	Abnormal hair quantity	4221	MEN1	ORPHA:2965
HP:0011362	Abnormal hair quantity	22800	RRAS2	ORPHA:648
HP:0011362	Abnormal hair quantity	8216	LZTR1	ORPHA:648
HP:0011362	Abnormal hair quantity	6016	RIT1	ORPHA:648
HP:0011362	Abnormal hair quantity	6237	RRAS	ORPHA:648
HP:0011362	Abnormal hair quantity	5894	RAF1	ORPHA:648
HP:0011362	Abnormal hair quantity	22808	MRAS	ORPHA:648
HP:0011362	Abnormal hair quantity	6654	SOS1	ORPHA:648
HP:0011362	Abnormal hair quantity	6655	SOS2	ORPHA:648
HP:0011362	Abnormal hair quantity	5781	PTPN11	ORPHA:648
HP:0011362	Abnormal hair quantity	5922	RASA2	ORPHA:648
HP:0011362	Abnormal hair quantity	5189	PEX1	ORPHA:3220
HP:0011362	Abnormal hair quantity	5190	PEX6	ORPHA:3220
HP:0011362	Abnormal hair quantity	1747	DLX3	ORPHA:3352
HP:0011362	Abnormal hair quantity	4683	NBN	ORPHA:647
HP:0011362	Abnormal hair quantity	3248	HPGD	ORPHA:2796
HP:0011362	Abnormal hair quantity	6578	SLCO2A1	ORPHA:2796
HP:0011362	Abnormal hair quantity	1500	CTNND1	ORPHA:1997
HP:0011362	Abnormal hair quantity	2304	FOXE1	ORPHA:1226
HP:0011362	Abnormal hair quantity	55627	SMPD4	OMIM:618622
HP:0011362	Abnormal hair quantity	57003	CCDC47	OMIM:618268
HP:0011362	Abnormal hair quantity	79796	ALG9	OMIM:263210
HP:0011362	Abnormal hair quantity	23325	WASHC4	OMIM:615817
HP:0011362	Abnormal hair quantity	25839	COG4	ORPHA:263501
HP:0011362	Abnormal hair quantity	25839	COG4	OMIM:613489
HP:0011362	Abnormal hair quantity	157680	VPS13B	ORPHA:193
HP:0011362	Abnormal hair quantity	55154	MSTO1	OMIM:617675
HP:0011362	Abnormal hair quantity	55154	MSTO1	ORPHA:502423
HP:0011362	Abnormal hair quantity	9853	RUSC2	OMIM:617773
HP:0011362	Abnormal hair quantity	4750	NEK1	ORPHA:2751
HP:0000750	Delayed speech and language development	23394	ADNP	ORPHA:404448
HP:0000750	Delayed speech and language development	55703	POLR3B	OMIM:614381
HP:0000750	Delayed speech and language development	55703	POLR3B	OMIM:619742
HP:0000750	Delayed speech and language development	51256	TBC1D7	OMIM:248000
HP:0000750	Delayed speech and language development	340533	NEXMIF	OMIM:300912
HP:0000750	Delayed speech and language development	340533	NEXMIF	ORPHA:1942
HP:0000750	Delayed speech and language development	23135	KDM6B	OMIM:618505
HP:0000750	Delayed speech and language development	6659	SOX4	OMIM:618506
HP:0000750	Delayed speech and language development	84334	COA8	ORPHA:436271
HP:0000750	Delayed speech and language development	84334	COA8	OMIM:619061
HP:0000750	Delayed speech and language development	81570	CLPB	OMIM:619835
HP:0000750	Delayed speech and language development	5457	POU4F1	ORPHA:314647
HP:0000750	Delayed speech and language development	23261	CAMTA1	ORPHA:314647
HP:0000750	Delayed speech and language development	23261	CAMTA1	OMIM:614756
HP:0000750	Delayed speech and language development	10159	ATP6AP2	ORPHA:93952
HP:0000750	Delayed speech and language development	10159	ATP6AP2	OMIM:300423
HP:0000750	Delayed speech and language development	55209	SETD5	ORPHA:404440
HP:0000750	Delayed speech and language development	55209	SETD5	OMIM:615761
HP:0000750	Delayed speech and language development	4125	MAN2B1	ORPHA:309282
HP:0000750	Delayed speech and language development	4125	MAN2B1	ORPHA:309288
HP:0000750	Delayed speech and language development	10743	RAI1	ORPHA:477817
HP:0000750	Delayed speech and language development	10743	RAI1	ORPHA:819
HP:0000750	Delayed speech and language development	10743	RAI1	OMIM:182290
HP:0000750	Delayed speech and language development	24137	KIF4A	OMIM:300923
HP:0000750	Delayed speech and language development	80816	ASXL3	OMIM:615485
HP:0000750	Delayed speech and language development	4487	MSX1	ORPHA:199306
HP:0000750	Delayed speech and language development	5818	NECTIN1	ORPHA:199306
HP:0000750	Delayed speech and language development	1739	DLG1	ORPHA:199306
HP:0000750	Delayed speech and language development	652	BMP4	ORPHA:199306
HP:0000750	Delayed speech and language development	8626	TP63	ORPHA:199306
HP:0000750	Delayed speech and language development	999	CDH1	ORPHA:199306
HP:0000750	Delayed speech and language development	5156	PDGFRA	ORPHA:199306
HP:0000750	Delayed speech and language development	3664	IRF6	ORPHA:199306
HP:0000750	Delayed speech and language development	9411	ARHGAP29	ORPHA:199306
HP:0000750	Delayed speech and language development	1748	DLX4	ORPHA:199306
HP:0000750	Delayed speech and language development	8942	KYNU	OMIM:617661
HP:0000750	Delayed speech and language development	283489	CHAMP1	OMIM:616579
HP:0000750	Delayed speech and language development	27245	AHDC1	ORPHA:412069
HP:0000750	Delayed speech and language development	27245	AHDC1	OMIM:615829
HP:0000750	Delayed speech and language development	55690	PACS1	OMIM:615009
HP:0000750	Delayed speech and language development	55690	PACS1	ORPHA:329224
HP:0000750	Delayed speech and language development	55904	KMT2E	OMIM:618512
HP:0000750	Delayed speech and language development	318	NUDT2	OMIM:619844
HP:0000750	Delayed speech and language development	6595	SMARCA2	ORPHA:2728
HP:0000750	Delayed speech and language development	6595	SMARCA2	OMIM:619293
HP:0000750	Delayed speech and language development	2132	EXT2	ORPHA:466926
HP:0000750	Delayed speech and language development	57082	KNL1	OMIM:604321
HP:0000750	Delayed speech and language development	55650	PIGV	OMIM:239300
HP:0000750	Delayed speech and language development	2192	FBLN1	ORPHA:404451
HP:0000750	Delayed speech and language development	2188	FANCF	OMIM:603467
HP:0000750	Delayed speech and language development	284403	WDR62	OMIM:604317
HP:0000750	Delayed speech and language development	8029	CUBN	ORPHA:35858
HP:0000750	Delayed speech and language development	81693	AMN	ORPHA:35858
HP:0000750	Delayed speech and language development	7054	TH	OMIM:605407
HP:0000750	Delayed speech and language development	7054	TH	ORPHA:101150
HP:0000750	Delayed speech and language development	79868	ALG13	ORPHA:324422
HP:0000750	Delayed speech and language development	288	ANK3	OMIM:615493
HP:0000750	Delayed speech and language development	288	ANK3	ORPHA:356996
HP:0000750	Delayed speech and language development	818	CAMK2G	OMIM:618522
HP:0000750	Delayed speech and language development	55154	MSTO1	OMIM:617675
HP:0000750	Delayed speech and language development	55154	MSTO1	ORPHA:502423
HP:0000750	Delayed speech and language development	64359	NXN	OMIM:618529
HP:0000750	Delayed speech and language development	9968	MED12	ORPHA:93932
HP:0000750	Delayed speech and language development	9968	MED12	OMIM:300895
HP:0000750	Delayed speech and language development	7436	VLDLR	OMIM:224050
HP:0000750	Delayed speech and language development	2770	GNAI1	OMIM:619854
HP:0000750	Delayed speech and language development	4091	SMAD6	OMIM:617439
HP:0000750	Delayed speech and language development	84100	ARL6	OMIM:209900
HP:0000750	Delayed speech and language development	79140	CCDC28B	OMIM:209900
HP:0000750	Delayed speech and language development	582	BBS1	OMIM:209900
HP:0000750	Delayed speech and language development	85465	SELENOI	OMIM:618768
HP:0000750	Delayed speech and language development	4330	MN1	OMIM:618774
HP:0000750	Delayed speech and language development	5528	PPP2R5D	OMIM:616355
HP:0000750	Delayed speech and language development	5528	PPP2R5D	ORPHA:457279
HP:0000750	Delayed speech and language development	57231	SNX14	OMIM:616354
HP:0000750	Delayed speech and language development	57231	SNX14	ORPHA:397709
HP:0000750	Delayed speech and language development	23327	NEDD4L	OMIM:617201
HP:0000750	Delayed speech and language development	5833	PCYT2	OMIM:618770
HP:0000750	Delayed speech and language development	3340	NDST1	OMIM:616116
HP:0000750	Delayed speech and language development	6602	SMARCD1	OMIM:618779
HP:0000750	Delayed speech and language development	5373	PMM2	OMIM:212065
HP:0000750	Delayed speech and language development	5373	PMM2	ORPHA:79318
HP:0000750	Delayed speech and language development	8493	PPM1D	OMIM:617450
HP:0000750	Delayed speech and language development	26038	CHD5	OMIM:619873
HP:0000750	Delayed speech and language development	2911	GRM1	OMIM:617691
HP:0000750	Delayed speech and language development	2911	GRM1	OMIM:614831
HP:0000750	Delayed speech and language development	55621	TRMT1	OMIM:618302
HP:0000750	Delayed speech and language development	23126	POGZ	OMIM:616364
HP:0000750	Delayed speech and language development	23126	POGZ	ORPHA:468678
HP:0000750	Delayed speech and language development	55773	TBC1D23	OMIM:617695
HP:0000750	Delayed speech and language development	57680	CHD8	OMIM:615032
HP:0000750	Delayed speech and language development	8558	CDK10	OMIM:617694
HP:0000750	Delayed speech and language development	51633	OTUD6B	OMIM:617452
HP:0000750	Delayed speech and language development	9354	UBE4A	OMIM:619639
HP:0000750	Delayed speech and language development	55280	CWF19L1	OMIM:616127
HP:0000750	Delayed speech and language development	55280	CWF19L1	ORPHA:453521
HP:0000750	Delayed speech and language development	92609	TIMM50	OMIM:617698
HP:0000750	Delayed speech and language development	3098	HK1	OMIM:618547
HP:0000750	Delayed speech and language development	5590	PRKCZ	ORPHA:1606
HP:0000750	Delayed speech and language development	2563	GABRD	ORPHA:1606
HP:0000750	Delayed speech and language development	23013	SPEN	ORPHA:1606
HP:0000750	Delayed speech and language development	23013	SPEN	OMIM:619312
HP:0000750	Delayed speech and language development	8510	MMP23B	ORPHA:1606
HP:0000750	Delayed speech and language development	7798	LUZP1	ORPHA:1606
HP:0000750	Delayed speech and language development	6497	SKI	ORPHA:1606
HP:0000750	Delayed speech and language development	10630	PDPN	ORPHA:1606
HP:0000750	Delayed speech and language development	3339	HSPG2	ORPHA:1606
HP:0000750	Delayed speech and language development	10277	UBE4B	ORPHA:1606
HP:0000750	Delayed speech and language development	8514	KCNAB2	ORPHA:1606
HP:0000750	Delayed speech and language development	473	RERE	ORPHA:1606
HP:0000750	Delayed speech and language development	63976	PRDM16	ORPHA:1606
HP:0000750	Delayed speech and language development	54897	CASZ1	ORPHA:1606
HP:0000750	Delayed speech and language development	1859	DYRK1A	ORPHA:464311
HP:0000750	Delayed speech and language development	1859	DYRK1A	OMIM:614104
HP:0000750	Delayed speech and language development	79718	TBL1XR1	OMIM:602342
HP:0000750	Delayed speech and language development	5621	PRNP	ORPHA:157941
HP:0000750	Delayed speech and language development	2232	FDXR	ORPHA:543470
HP:0000750	Delayed speech and language development	200424	TET3	OMIM:618798
HP:0000750	Delayed speech and language development	111	ADCY5	OMIM:619647
HP:0000750	Delayed speech and language development	111	ADCY5	OMIM:619651
HP:0000750	Delayed speech and language development	9772	TMEM94	OMIM:618316
HP:0000750	Delayed speech and language development	79971	WLS	OMIM:619648
HP:0000750	Delayed speech and language development	9711	RUBCN	ORPHA:404499
HP:0000750	Delayed speech and language development	9711	RUBCN	OMIM:615705
HP:0000750	Delayed speech and language development	4208	MEF2C	ORPHA:228384
HP:0000750	Delayed speech and language development	5981	RFC1	ORPHA:504476
HP:0000750	Delayed speech and language development	55739	NAXD	OMIM:618321
HP:0000750	Delayed speech and language development	5354	PLP1	OMIM:312080
HP:0000750	Delayed speech and language development	5354	PLP1	ORPHA:280219
HP:0000750	Delayed speech and language development	7143	TNR	OMIM:619653
HP:0000750	Delayed speech and language development	2260	FGFR1	OMIM:166250
HP:0000750	Delayed speech and language development	2260	FGFR1	OMIM:190440
HP:0000750	Delayed speech and language development	25836	NIPBL	OMIM:122470
HP:0000750	Delayed speech and language development	374969	SVBP	OMIM:618569
HP:0000750	Delayed speech and language development	51322	WAC	ORPHA:466950
HP:0000750	Delayed speech and language development	51322	WAC	ORPHA:284169
HP:0000750	Delayed speech and language development	51322	WAC	OMIM:616708
HP:0000750	Delayed speech and language development	2778	GNAS	ORPHA:79445
HP:0000750	Delayed speech and language development	2055	CLN8	OMIM:600143
HP:0000750	Delayed speech and language development	2055	CLN8	ORPHA:1947
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:261197
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:261222
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:329249
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:618333
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:613684
HP:0000750	Delayed speech and language development	2033	EP300	ORPHA:353284
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:180849
HP:0000750	Delayed speech and language development	10533	ATG7	OMIM:619422
HP:0000750	Delayed speech and language development	1523	CUX1	OMIM:618330
HP:0000750	Delayed speech and language development	120	ADD3	OMIM:617008
HP:0000750	Delayed speech and language development	4212	MEIS2	ORPHA:261190
HP:0000750	Delayed speech and language development	6443	SGCB	ORPHA:119
HP:0000750	Delayed speech and language development	5813	PURA	ORPHA:314655
HP:0000750	Delayed speech and language development	9949	AMMECR1	OMIM:300990
HP:0000750	Delayed speech and language development	57526	PCDH19	ORPHA:101039
HP:0000750	Delayed speech and language development	695	BTK	OMIM:300755
HP:0000750	Delayed speech and language development	6134	RPL10	OMIM:300998
HP:0000750	Delayed speech and language development	6134	RPL10	ORPHA:459070
HP:0000750	Delayed speech and language development	1281	COL3A1	OMIM:618343
HP:0000750	Delayed speech and language development	160418	TMTC3	OMIM:617255
HP:0000750	Delayed speech and language development	123606	NIPA1	ORPHA:261183
HP:0000750	Delayed speech and language development	7283	TUBG1	ORPHA:261183
HP:0000750	Delayed speech and language development	81614	NIPA2	ORPHA:261183
HP:0000750	Delayed speech and language development	54517	PUS7	OMIM:618342
HP:0000750	Delayed speech and language development	10765	KDM5B	OMIM:618109
HP:0000750	Delayed speech and language development	10785	WDR4	OMIM:618347
HP:0000750	Delayed speech and language development	4967	OGDH	OMIM:203740
HP:0000750	Delayed speech and language development	57122	NUP107	OMIM:618348
HP:0000750	Delayed speech and language development	57122	NUP107	OMIM:616730
HP:0000750	Delayed speech and language development	6418	SET	OMIM:618106
HP:0000750	Delayed speech and language development	56623	INPP5E	OMIM:213300
HP:0000750	Delayed speech and language development	56623	INPP5E	ORPHA:75858
HP:0000750	Delayed speech and language development	56623	INPP5E	OMIM:610156
HP:0000750	Delayed speech and language development	50814	NSDHL	ORPHA:251383
HP:0000750	Delayed speech and language development	50814	NSDHL	OMIM:300831
HP:0000750	Delayed speech and language development	3708	ITPR1	ORPHA:208513
HP:0000750	Delayed speech and language development	3708	ITPR1	OMIM:117360
HP:0000750	Delayed speech and language development	7681	MKRN3	OMIM:176270
HP:0000750	Delayed speech and language development	3653	IPW	OMIM:176270
HP:0000750	Delayed speech and language development	54551	MAGEL2	OMIM:176270
HP:0000750	Delayed speech and language development	54551	MAGEL2	ORPHA:398069
HP:0000750	Delayed speech and language development	54551	MAGEL2	OMIM:615547
HP:0000750	Delayed speech and language development	791114	PWRN1	OMIM:176270
HP:0000750	Delayed speech and language development	100033413	SNORD116-1	OMIM:176270
HP:0000750	Delayed speech and language development	8924	HERC2	OMIM:176270
HP:0000750	Delayed speech and language development	8924	HERC2	OMIM:615516
HP:0000750	Delayed speech and language development	145624	PWAR1	OMIM:176270
HP:0000750	Delayed speech and language development	23742	NPAP1	OMIM:176270
HP:0000750	Delayed speech and language development	338433	SNORD115-1	OMIM:176270
HP:0000750	Delayed speech and language development	1120	CHKB	OMIM:602541
HP:0000750	Delayed speech and language development	5575	PRKAR1B	OMIM:619680
HP:0000750	Delayed speech and language development	5515	PPP2CA	OMIM:618354
HP:0000750	Delayed speech and language development	6096	RORB	OMIM:618357
HP:0000750	Delayed speech and language development	112755	STX1B	OMIM:616172
HP:0000750	Delayed speech and language development	116461	TSEN15	OMIM:617026
HP:0000750	Delayed speech and language development	55262	TRAPPC14	OMIM:618351
HP:0000750	Delayed speech and language development	6492	SIM1	ORPHA:171829
HP:0000750	Delayed speech and language development	6492	SIM1	ORPHA:398079
HP:0000750	Delayed speech and language development	23043	TNIK	OMIM:617028
HP:0000750	Delayed speech and language development	4784	NFIX	OMIM:602535
HP:0000750	Delayed speech and language development	4784	NFIX	ORPHA:447980
HP:0000750	Delayed speech and language development	4784	NFIX	OMIM:614753
HP:0000750	Delayed speech and language development	55250	ELP2	OMIM:617270
HP:0000750	Delayed speech and language development	84340	GFM2	ORPHA:565624
HP:0000750	Delayed speech and language development	84340	GFM2	OMIM:618397
HP:0000750	Delayed speech and language development	8888	MCM3AP	OMIM:618124
HP:0000750	Delayed speech and language development	51132	RLIM	OMIM:300978
HP:0000750	Delayed speech and language development	10588	MTHFS	OMIM:618367
HP:0000750	Delayed speech and language development	2334	AFF2	OMIM:309548
HP:0000750	Delayed speech and language development	2334	AFF2	ORPHA:100973
HP:0000750	Delayed speech and language development	24140	FTSJ1	OMIM:309549
HP:0000750	Delayed speech and language development	6601	SMARCC2	OMIM:618362
HP:0000750	Delayed speech and language development	513	ATP5F1D	OMIM:618120
HP:0000750	Delayed speech and language development	92255	LMBRD2	OMIM:619694
HP:0000750	Delayed speech and language development	27341	RRP7A	OMIM:619453
HP:0000750	Delayed speech and language development	2019	EN1	OMIM:619218
HP:0000750	Delayed speech and language development	549	AUH	OMIM:250950
HP:0000750	Delayed speech and language development	549	AUH	ORPHA:67046
HP:0000750	Delayed speech and language development	5805	PTS	ORPHA:13
HP:0000750	Delayed speech and language development	80311	KLHL15	OMIM:300982
HP:0000750	Delayed speech and language development	56776	FMN2	OMIM:616193
HP:0000750	Delayed speech and language development	23111	SPART	ORPHA:101000
HP:0000750	Delayed speech and language development	2068	ERCC2	OMIM:601675
HP:0000750	Delayed speech and language development	1760	DMPK	ORPHA:589821
HP:0000750	Delayed speech and language development	7086	TKT	OMIM:617044
HP:0000750	Delayed speech and language development	7086	TKT	ORPHA:488618
HP:0000750	Delayed speech and language development	6390	SDHB	OMIM:619224
HP:0000750	Delayed speech and language development	84892	POMGNT2	OMIM:618135
HP:0000750	Delayed speech and language development	63931	MRPS14	OMIM:618378
HP:0000750	Delayed speech and language development	164	AP1G1	OMIM:619467
HP:0000750	Delayed speech and language development	164	AP1G1	OMIM:619548
HP:0000750	Delayed speech and language development	9757	KMT2B	OMIM:617284
HP:0000750	Delayed speech and language development	9758	FRMPD4	OMIM:300983
HP:0000750	Delayed speech and language development	7253	TSHR	OMIM:609152
HP:0000750	Delayed speech and language development	6304	SATB1	OMIM:619228
HP:0000750	Delayed speech and language development	6304	SATB1	OMIM:619229
HP:0000750	Delayed speech and language development	220296	HEPACAM	OMIM:613925
HP:0000750	Delayed speech and language development	220296	HEPACAM	OMIM:613926
HP:0000750	Delayed speech and language development	3028	HSD17B10	ORPHA:391428
HP:0000750	Delayed speech and language development	3028	HSD17B10	OMIM:300438
HP:0000750	Delayed speech and language development	50801	KCNK4	OMIM:618381
HP:0000750	Delayed speech and language development	84065	TMEM222	OMIM:619470
HP:0000750	Delayed speech and language development	26160	IFT172	OMIM:619471
HP:0000750	Delayed speech and language development	11212	PLPBP	OMIM:617290
HP:0000750	Delayed speech and language development	55697	VAC14	OMIM:617054
HP:0000750	Delayed speech and language development	57498	KIDINS220	OMIM:617296
HP:0000750	Delayed speech and language development	8812	CCNK	OMIM:618147
HP:0000750	Delayed speech and language development	57187	THOC2	OMIM:300957
HP:0000750	Delayed speech and language development	57187	THOC2	ORPHA:457240
HP:0000750	Delayed speech and language development	9851	KIAA0753	OMIM:619479
HP:0000750	Delayed speech and language development	27107	ZBTB11	OMIM:618383
HP:0000750	Delayed speech and language development	2892	GRIA3	ORPHA:364028
HP:0000750	Delayed speech and language development	7737	RNF113A	OMIM:300953
HP:0000750	Delayed speech and language development	6711	SPTBN1	OMIM:619475
HP:0000750	Delayed speech and language development	4361	MRE11	ORPHA:251347
HP:0000750	Delayed speech and language development	4361	MRE11	OMIM:604391
HP:0000750	Delayed speech and language development	8452	CUL3	OMIM:619239
HP:0000750	Delayed speech and language development	6608	SMO	OMIM:241800
HP:0000750	Delayed speech and language development	80036	TRPM3	OMIM:620224
HP:0000750	Delayed speech and language development	10283	CWC27	ORPHA:166035
HP:0000750	Delayed speech and language development	10283	CWC27	OMIM:250410
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:96184
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:254531
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:254525
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:96184
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:254531
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:254525
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:96184
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:254531
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:254525
HP:0000750	Delayed speech and language development	11198	SUPT16H	OMIM:619480
HP:0000750	Delayed speech and language development	2887	GRB10	ORPHA:96182
HP:0000750	Delayed speech and language development	25839	COG4	OMIM:618150
HP:0000750	Delayed speech and language development	1457	CSNK2A1	OMIM:617062
HP:0000750	Delayed speech and language development	7204	TRIO	OMIM:617061
HP:0000750	Delayed speech and language development	7204	TRIO	OMIM:618825
HP:0000750	Delayed speech and language development	100147744	RNU7-1	OMIM:619487
HP:0000750	Delayed speech and language development	203068	TUBB	OMIM:156610
HP:0000750	Delayed speech and language development	203068	TUBB	OMIM:615771
HP:0000750	Delayed speech and language development	6872	TAF1	OMIM:300966
HP:0000750	Delayed speech and language development	6872	TAF1	ORPHA:480907
HP:0000750	Delayed speech and language development	8567	MADD	OMIM:619004
HP:0000750	Delayed speech and language development	8567	MADD	OMIM:619005
HP:0000750	Delayed speech and language development	4841	NONO	OMIM:300967
HP:0000750	Delayed speech and language development	4841	NONO	ORPHA:466791
HP:0000750	Delayed speech and language development	5058	PAK1	OMIM:618158
HP:0000750	Delayed speech and language development	8239	USP9X	OMIM:300968
HP:0000750	Delayed speech and language development	57477	SHROOM4	ORPHA:85288
HP:0000750	Delayed speech and language development	23067	SETD1B	OMIM:619000
HP:0000750	Delayed speech and language development	23112	TNRC6B	OMIM:619243
HP:0000750	Delayed speech and language development	91875	TTC5	OMIM:619244
HP:0000750	Delayed speech and language development	9373	PLAA	ORPHA:521426
HP:0000750	Delayed speech and language development	23096	IQSEC2	OMIM:309530
HP:0000750	Delayed speech and language development	23096	IQSEC2	ORPHA:819
HP:0000750	Delayed speech and language development	23096	IQSEC2	ORPHA:217377
HP:0000750	Delayed speech and language development	10681	GNB5	ORPHA:542306
HP:0000750	Delayed speech and language development	10681	GNB5	OMIM:617173
HP:0000750	Delayed speech and language development	10681	GNB5	OMIM:617182
HP:0000750	Delayed speech and language development	5625	PRODH	OMIM:239500
HP:0000750	Delayed speech and language development	2799	GNS	OMIM:252940
HP:0000750	Delayed speech and language development	23387	SIK3	OMIM:618162
HP:0000750	Delayed speech and language development	84231	TRAF7	OMIM:618164
HP:0000750	Delayed speech and language development	8242	KDM5C	ORPHA:85279
HP:0000750	Delayed speech and language development	8242	KDM5C	OMIM:300534
HP:0000750	Delayed speech and language development	1315	COPB1	OMIM:619255
HP:0000750	Delayed speech and language development	284058	KANSL1	OMIM:610443
HP:0000750	Delayed speech and language development	284058	KANSL1	ORPHA:363958
HP:0000750	Delayed speech and language development	284058	KANSL1	ORPHA:363965
HP:0000750	Delayed speech and language development	81615	TMEM163	OMIM:620243
HP:0000750	Delayed speech and language development	51082	POLR1D	OMIM:613717
HP:0000750	Delayed speech and language development	10079	ATP9A	OMIM:620242
HP:0000750	Delayed speech and language development	2801	GOLGA2	OMIM:620240
HP:0000750	Delayed speech and language development	284361	EMC10	OMIM:619264
HP:0000750	Delayed speech and language development	170302	ARX	OMIM:309510
HP:0000750	Delayed speech and language development	170302	ARX	ORPHA:94083
HP:0000750	Delayed speech and language development	8398	PLA2G6	OMIM:610217
HP:0000750	Delayed speech and language development	8398	PLA2G6	OMIM:256600
HP:0000750	Delayed speech and language development	8398	PLA2G6	ORPHA:35069
HP:0000750	Delayed speech and language development	55294	FBXW7	OMIM:620012
HP:0000750	Delayed speech and language development	9131	AIFM1	ORPHA:238329
HP:0000750	Delayed speech and language development	6095	RORA	OMIM:618060
HP:0000750	Delayed speech and language development	5138	PDE2A	OMIM:619150
HP:0000750	Delayed speech and language development	8450	CUL4B	OMIM:300354
HP:0000750	Delayed speech and language development	6535	SLC6A8	OMIM:300352
HP:0000750	Delayed speech and language development	6535	SLC6A8	ORPHA:52503
HP:0000750	Delayed speech and language development	26960	NBEA	OMIM:619157
HP:0000750	Delayed speech and language development	23241	PACS2	OMIM:618067
HP:0000750	Delayed speech and language development	10466	COG5	OMIM:613612
HP:0000750	Delayed speech and language development	10466	COG5	ORPHA:263487
HP:0000750	Delayed speech and language development	123263	MTFMT	OMIM:614947
HP:0000750	Delayed speech and language development	340990	OTOG	OMIM:614945
HP:0000750	Delayed speech and language development	51343	FZR1	OMIM:620145
HP:0000750	Delayed speech and language development	51343	FZR1	ORPHA:442835
HP:0000750	Delayed speech and language development	9839	ZEB2	OMIM:235730
HP:0000750	Delayed speech and language development	10093	ARPC4	OMIM:620141
HP:0000750	Delayed speech and language development	5447	POR	ORPHA:95699
HP:0000750	Delayed speech and language development	80232	WDR26	ORPHA:513456
HP:0000750	Delayed speech and language development	3199	HOXA2	ORPHA:83463
HP:0000750	Delayed speech and language development	4010	LMX1B	ORPHA:495818
HP:0000750	Delayed speech and language development	6812	STXBP1	ORPHA:495818
HP:0000750	Delayed speech and language development	80055	PGAP1	OMIM:615802
HP:0000750	Delayed speech and language development	2314	FLII	ORPHA:819
HP:0000750	Delayed speech and language development	10522	DEAF1	ORPHA:819
HP:0000750	Delayed speech and language development	55780	ERMARD	ORPHA:75857
HP:0000750	Delayed speech and language development	55780	ERMARD	OMIM:615544
HP:0000750	Delayed speech and language development	9382	COG1	OMIM:611209
HP:0000750	Delayed speech and language development	4001	LMNB1	OMIM:619179
HP:0000750	Delayed speech and language development	64324	NSD1	OMIM:117550
HP:0000750	Delayed speech and language development	8913	CACNA1G	OMIM:618087
HP:0000750	Delayed speech and language development	3766	KCNJ10	OMIM:612780
HP:0000750	Delayed speech and language development	80204	FBXO11	OMIM:618089
HP:0000750	Delayed speech and language development	93627	TBCK	OMIM:616900
HP:0000750	Delayed speech and language development	93627	TBCK	ORPHA:488632
HP:0000750	Delayed speech and language development	80254	CEP63	OMIM:614728
HP:0000750	Delayed speech and language development	23325	WASHC4	OMIM:615817
HP:0000750	Delayed speech and language development	56984	PSMG2	OMIM:619183
HP:0000750	Delayed speech and language development	57531	HACE1	ORPHA:464282
HP:0000750	Delayed speech and language development	80856	LNPK	OMIM:618090
HP:0000750	Delayed speech and language development	84823	LMNB2	OMIM:619180
HP:0000750	Delayed speech and language development	64919	BCL11B	OMIM:618092
HP:0000750	Delayed speech and language development	23036	ZNF292	OMIM:619188
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	OMIM:278250
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	ORPHA:2834
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	ORPHA:357074
HP:0000750	Delayed speech and language development	23314	SATB2	OMIM:612313
HP:0000750	Delayed speech and language development	23314	SATB2	ORPHA:251019
HP:0000750	Delayed speech and language development	54872	PIGG	OMIM:616917
HP:0000750	Delayed speech and language development	54872	PIGG	ORPHA:488635
HP:0000750	Delayed speech and language development	25942	SIN3A	OMIM:613406
HP:0000750	Delayed speech and language development	175	AGA	ORPHA:93
HP:0000750	Delayed speech and language development	175	AGA	OMIM:208400
HP:0000750	Delayed speech and language development	3192	HNRNPU	ORPHA:238769
HP:0000750	Delayed speech and language development	9653	HS2ST1	OMIM:619194
HP:0000750	Delayed speech and language development	1798	DPAGT1	ORPHA:86309
HP:0000750	Delayed speech and language development	10841	FTCD	ORPHA:51208
HP:0000750	Delayed speech and language development	2903	GRIN2A	OMIM:245570
HP:0000750	Delayed speech and language development	2903	GRIN2A	ORPHA:163721
HP:0000750	Delayed speech and language development	5063	PAK3	OMIM:300558
HP:0000750	Delayed speech and language development	27286	SRPX2	ORPHA:163721
HP:0000750	Delayed speech and language development	27286	SRPX2	ORPHA:98889
HP:0000750	Delayed speech and language development	26053	AUTS2	OMIM:615834
HP:0000750	Delayed speech and language development	26053	AUTS2	ORPHA:352490
HP:0000750	Delayed speech and language development	3211	HOXB1	OMIM:614744
HP:0000750	Delayed speech and language development	773	CACNA1A	ORPHA:2131
HP:0000750	Delayed speech and language development	773	CACNA1A	ORPHA:442835
HP:0000750	Delayed speech and language development	6507	SLC1A3	ORPHA:2131
HP:0000750	Delayed speech and language development	477	ATP1A2	ORPHA:2131
HP:0000750	Delayed speech and language development	477	ATP1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	478	ATP1A3	ORPHA:2131
HP:0000750	Delayed speech and language development	478	ATP1A3	ORPHA:442835
HP:0000750	Delayed speech and language development	84720	PIGO	OMIM:614749
HP:0000750	Delayed speech and language development	8085	KMT2D	OMIM:620186
HP:0000750	Delayed speech and language development	283209	PGM2L1	OMIM:620191
HP:0000750	Delayed speech and language development	79228	THOC6	ORPHA:363444
HP:0000750	Delayed speech and language development	2316	FLNA	OMIM:300321
HP:0000750	Delayed speech and language development	23522	KAT6B	ORPHA:85201
HP:0000750	Delayed speech and language development	182	JAG1	OMIM:118450
HP:0000750	Delayed speech and language development	10472	ZBTB18	OMIM:612337
HP:0000750	Delayed speech and language development	34	ACADM	ORPHA:42
HP:0000750	Delayed speech and language development	55084	SOBP	OMIM:613671
HP:0000750	Delayed speech and language development	27086	FOXP1	OMIM:613670
HP:0000750	Delayed speech and language development	27086	FOXP1	ORPHA:391372
HP:0000750	Delayed speech and language development	55149	MTPAP	OMIM:613672
HP:0000750	Delayed speech and language development	2146	EZH2	OMIM:277590
HP:0000750	Delayed speech and language development	81887	LAS1L	OMIM:309585
HP:0000750	Delayed speech and language development	10815	CPLX1	ORPHA:352582
HP:0000750	Delayed speech and language development	57465	TBC1D24	ORPHA:352582
HP:0000750	Delayed speech and language development	6509	SLC1A4	ORPHA:447997
HP:0000750	Delayed speech and language development	226	ALDOA	ORPHA:57
HP:0000750	Delayed speech and language development	6567	SLC16A2	ORPHA:59
HP:0000750	Delayed speech and language development	5832	ALDH18A1	ORPHA:447760
HP:0000750	Delayed speech and language development	22907	DHX30	OMIM:617804
HP:0000750	Delayed speech and language development	196528	ARID2	OMIM:617808
HP:0000750	Delayed speech and language development	10075	HUWE1	OMIM:309590
HP:0000750	Delayed speech and language development	6513	SLC2A1	ORPHA:71277
HP:0000750	Delayed speech and language development	6513	SLC2A1	OMIM:606777
HP:0000750	Delayed speech and language development	6513	SLC2A1	ORPHA:1942
HP:0000750	Delayed speech and language development	8243	SMC1A	OMIM:301044
HP:0000750	Delayed speech and language development	124997	WDR81	OMIM:610185
HP:0000750	Delayed speech and language development	8733	GPAA1	OMIM:617810
HP:0000750	Delayed speech and language development	8733	GPAA1	ORPHA:529665
HP:0000750	Delayed speech and language development	89891	DYNC2I2	OMIM:615633
HP:0000750	Delayed speech and language development	132	ADK	OMIM:614300
HP:0000750	Delayed speech and language development	11133	KPTN	OMIM:615637
HP:0000750	Delayed speech and language development	11133	KPTN	ORPHA:397612
HP:0000750	Delayed speech and language development	6334	SCN8A	OMIM:614306
HP:0000750	Delayed speech and language development	6334	SCN8A	ORPHA:442835
HP:0000750	Delayed speech and language development	89970	RSPRY1	OMIM:616723
HP:0000750	Delayed speech and language development	23028	KDM1A	OMIM:616728
HP:0000750	Delayed speech and language development	23028	KDM1A	ORPHA:477993
HP:0000750	Delayed speech and language development	26115	TANC2	OMIM:618906
HP:0000750	Delayed speech and language development	3981	LIG4	OMIM:606593
HP:0000750	Delayed speech and language development	26580	BSCL2	ORPHA:363400
HP:0000750	Delayed speech and language development	26580	BSCL2	OMIM:615924
HP:0000750	Delayed speech and language development	1806	DPYD	OMIM:274270
HP:0000750	Delayed speech and language development	1806	DPYD	ORPHA:293948
HP:0000750	Delayed speech and language development	23291	FBXW11	OMIM:618914
HP:0000750	Delayed speech and language development	2782	GNB1	OMIM:616973
HP:0000750	Delayed speech and language development	4893	NRAS	OMIM:613224
HP:0000750	Delayed speech and language development	3097	HIVEP2	OMIM:616977
HP:0000750	Delayed speech and language development	10982	MAPRE2	OMIM:616734
HP:0000750	Delayed speech and language development	3176	HNMT	OMIM:616739
HP:0000750	Delayed speech and language development	2891	GRIA2	OMIM:618917
HP:0000750	Delayed speech and language development	4131	MAP1B	OMIM:618918
HP:0000750	Delayed speech and language development	84679	SLC9A7	OMIM:301024
HP:0000750	Delayed speech and language development	90161	HS6ST2	OMIM:301025
HP:0000750	Delayed speech and language development	4694	NDUFA1	OMIM:301020
HP:0000750	Delayed speech and language development	10735	STAG2	OMIM:301022
HP:0000750	Delayed speech and language development	2332	FMR1	ORPHA:449291
HP:0000750	Delayed speech and language development	55906	ZC4H2	OMIM:314580
HP:0000750	Delayed speech and language development	63035	BCORL1	OMIM:301029
HP:0000750	Delayed speech and language development	85358	SHANK3	ORPHA:48652
HP:0000750	Delayed speech and language development	85358	SHANK3	OMIM:606232
HP:0000750	Delayed speech and language development	116150	NUS1	OMIM:617831
HP:0000750	Delayed speech and language development	116150	NUS1	ORPHA:442835
HP:0000750	Delayed speech and language development	79947	DHDDS	OMIM:617836
HP:0000750	Delayed speech and language development	79947	DHDDS	ORPHA:442835
HP:0000750	Delayed speech and language development	91137	SLC25A46	OMIM:616505
HP:0000750	Delayed speech and language development	6678	SPARC	OMIM:616507
HP:0000750	Delayed speech and language development	10943	MSL3	OMIM:301032
HP:0000750	Delayed speech and language development	6638	SNRPN	OMIM:209850
HP:0000750	Delayed speech and language development	6638	SNRPN	ORPHA:177907
HP:0000750	Delayed speech and language development	4041	LRP5	ORPHA:2788
HP:0000750	Delayed speech and language development	56479	KCNQ5	OMIM:617601
HP:0000750	Delayed speech and language development	23152	CIC	OMIM:617600
HP:0000750	Delayed speech and language development	128637	TBC1D20	OMIM:615663
HP:0000750	Delayed speech and language development	9343	EFTUD2	ORPHA:79113
HP:0000750	Delayed speech and language development	9343	EFTUD2	OMIM:610536
HP:0000750	Delayed speech and language development	10664	CTCF	ORPHA:363611
HP:0000750	Delayed speech and language development	10367	MICU1	OMIM:615673
HP:0000750	Delayed speech and language development	8270	LAGE3	OMIM:301006
HP:0000750	Delayed speech and language development	22866	CNKSR2	OMIM:301008
HP:0000750	Delayed speech and language development	22866	CNKSR2	ORPHA:442835
HP:0000750	Delayed speech and language development	1861	TOR1A	OMIM:618947
HP:0000750	Delayed speech and language development	79853	TM4SF20	OMIM:615432
HP:0000750	Delayed speech and language development	117581	TWIST2	OMIM:209885
HP:0000750	Delayed speech and language development	117581	TWIST2	OMIM:200110
HP:0000750	Delayed speech and language development	117581	TWIST2	ORPHA:920
HP:0000750	Delayed speech and language development	23040	MYT1L	OMIM:616521
HP:0000750	Delayed speech and language development	8936	WASF1	OMIM:618707
HP:0000750	Delayed speech and language development	6697	SPR	ORPHA:70594
HP:0000750	Delayed speech and language development	26503	SLC17A5	OMIM:604369
HP:0000750	Delayed speech and language development	80210	ARMC9	OMIM:617622
HP:0000750	Delayed speech and language development	81562	LMAN2L	OMIM:617863
HP:0000750	Delayed speech and language development	84628	NTNG2	OMIM:618718
HP:0000750	Delayed speech and language development	139285	AMER1	OMIM:300373
HP:0000750	Delayed speech and language development	259266	ASPM	OMIM:608716
HP:0000750	Delayed speech and language development	54888	NSUN2	OMIM:611091
HP:0000750	Delayed speech and language development	54802	TRIT1	OMIM:617873
HP:0000750	Delayed speech and language development	7518	XRCC4	OMIM:616541
HP:0000750	Delayed speech and language development	4763	NF1	ORPHA:139474
HP:0000750	Delayed speech and language development	4763	NF1	OMIM:601321
HP:0000750	Delayed speech and language development	10274	STAG1	OMIM:617635
HP:0000750	Delayed speech and language development	51317	PHF21A	OMIM:618725
HP:0000750	Delayed speech and language development	2806	GOT2	OMIM:618721
HP:0000750	Delayed speech and language development	1788	DNMT3A	OMIM:618724
HP:0000750	Delayed speech and language development	3778	KCNMA1	OMIM:618729
HP:0000750	Delayed speech and language development	3778	KCNMA1	OMIM:617643
HP:0000750	Delayed speech and language development	5573	PRKAR1A	ORPHA:280651
HP:0000750	Delayed speech and language development	5144	PDE4D	ORPHA:280651
HP:0000750	Delayed speech and language development	5144	PDE4D	OMIM:614613
HP:0000750	Delayed speech and language development	2182	ACSL4	OMIM:300387
HP:0000750	Delayed speech and language development	9699	RIMS2	OMIM:618970
HP:0000750	Delayed speech and language development	1968	EIF2S3	OMIM:300148
HP:0000750	Delayed speech and language development	672	BRCA1	OMIM:617883
HP:0000750	Delayed speech and language development	5087	PBX1	OMIM:617641
HP:0000750	Delayed speech and language development	523	ATP6V1A	OMIM:617403
HP:0000750	Delayed speech and language development	523	ATP6V1A	ORPHA:442835
HP:0000750	Delayed speech and language development	523	ATP6V1A	ORPHA:357074
HP:0000750	Delayed speech and language development	84148	KAT8	OMIM:618974
HP:0000750	Delayed speech and language development	157657	CFAP418	OMIM:617406
HP:0000750	Delayed speech and language development	27034	ACAD8	ORPHA:79159
HP:0000750	Delayed speech and language development	7528	YY1	ORPHA:506358
HP:0000750	Delayed speech and language development	7528	YY1	OMIM:617557
HP:0000750	Delayed speech and language development	2218	FKTN	ORPHA:272
HP:0000750	Delayed speech and language development	8367	H4C5	OMIM:619950
HP:0000750	Delayed speech and language development	91452	ACBD5	OMIM:618863
HP:0000750	Delayed speech and language development	5728	PTEN	OMIM:605309
HP:0000750	Delayed speech and language development	9853	RUSC2	OMIM:617773
HP:0000750	Delayed speech and language development	9524	TECR	OMIM:614020
HP:0000750	Delayed speech and language development	4750	NEK1	OMIM:263520
HP:0000750	Delayed speech and language development	23446	SLC44A1	OMIM:618868
HP:0000750	Delayed speech and language development	6873	TAF2	OMIM:615599
HP:0000750	Delayed speech and language development	2895	GRID2	OMIM:616204
HP:0000750	Delayed speech and language development	10054	UBA2	OMIM:619959
HP:0000750	Delayed speech and language development	2972	BRF1	OMIM:616202
HP:0000750	Delayed speech and language development	26040	SETBP1	ORPHA:436151
HP:0000750	Delayed speech and language development	26040	SETBP1	OMIM:616078
HP:0000750	Delayed speech and language development	3703	STT3A	OMIM:619714
HP:0000750	Delayed speech and language development	84942	WDR73	OMIM:251300
HP:0000750	Delayed speech and language development	116931	MED12L	OMIM:618872
HP:0000750	Delayed speech and language development	3020	H3-3A	OMIM:619720
HP:0000750	Delayed speech and language development	7552	ZNF711	OMIM:300803
HP:0000750	Delayed speech and language development	1630	DCC	OMIM:617542
HP:0000750	Delayed speech and language development	51111	KMT5B	OMIM:617788
HP:0000750	Delayed speech and language development	80155	NAA15	OMIM:617787
HP:0000750	Delayed speech and language development	472	ATM	OMIM:208900
HP:0000750	Delayed speech and language development	10501	SEMA6B	OMIM:618876
HP:0000750	Delayed speech and language development	8309	ACOX2	OMIM:617308
HP:0000750	Delayed speech and language development	10381	TUBB3	OMIM:614039
HP:0000750	Delayed speech and language development	57156	TMEM63C	OMIM:619966
HP:0000750	Delayed speech and language development	28960	DCPS	OMIM:616459
HP:0000750	Delayed speech and language development	27102	EIF2AK1	OMIM:618878
HP:0000750	Delayed speech and language development	3781	KCNN2	OMIM:619725
HP:0000750	Delayed speech and language development	5189	PEX1	OMIM:214100
HP:0000750	Delayed speech and language development	5189	PEX1	OMIM:601539
HP:0000750	Delayed speech and language development	6660	SOX5	ORPHA:313892
HP:0000750	Delayed speech and language development	6660	SOX5	OMIM:616803
HP:0000750	Delayed speech and language development	137492	VPS37A	ORPHA:319199
HP:0000750	Delayed speech and language development	137492	VPS37A	OMIM:614898
HP:0000750	Delayed speech and language development	83696	TRAPPC9	OMIM:613192
HP:0000750	Delayed speech and language development	129685	TAF8	OMIM:619972
HP:0000750	Delayed speech and language development	2590	GALNT2	OMIM:618885
HP:0000750	Delayed speech and language development	55870	ASH1L	OMIM:617796
HP:0000750	Delayed speech and language development	535	ATP6V0A1	OMIM:619970
HP:0000750	Delayed speech and language development	816	CAMK2B	OMIM:617799
HP:0000750	Delayed speech and language development	815	CAMK2A	OMIM:617798
HP:0000750	Delayed speech and language development	23184	MESD	OMIM:618644
HP:0000750	Delayed speech and language development	51319	RSRC1	OMIM:618402
HP:0000750	Delayed speech and language development	8560	DEGS1	OMIM:618404
HP:0000750	Delayed speech and language development	8726	EED	OMIM:617561
HP:0000750	Delayed speech and language development	10715	CERS1	OMIM:616230
HP:0000750	Delayed speech and language development	1656	DDX6	OMIM:618653
HP:0000750	Delayed speech and language development	2744	GLS	OMIM:618412
HP:0000750	Delayed speech and language development	5442	POLRMT	OMIM:619743
HP:0000750	Delayed speech and language development	6712	SPTBN2	OMIM:615386
HP:0000750	Delayed speech and language development	6712	SPTBN2	ORPHA:352403
HP:0000750	Delayed speech and language development	4297	KMT2A	ORPHA:319182
HP:0000750	Delayed speech and language development	4297	KMT2A	OMIM:605130
HP:0000750	Delayed speech and language development	55714	TENM3	OMIM:615145
HP:0000750	Delayed speech and language development	83636	C19orf12	OMIM:614298
HP:0000750	Delayed speech and language development	833	CARS1	OMIM:618891
HP:0000750	Delayed speech and language development	57178	ZMIZ1	OMIM:618659
HP:0000750	Delayed speech and language development	2783	GNB2	OMIM:619503
HP:0000750	Delayed speech and language development	26057	ANKRD17	OMIM:619504
HP:0000750	Delayed speech and language development	3737	KCNA2	ORPHA:442835
HP:0000750	Delayed speech and language development	1759	DNM1	ORPHA:442835
HP:0000750	Delayed speech and language development	8120	AP3B2	ORPHA:442835
HP:0000750	Delayed speech and language development	10991	SLC38A3	ORPHA:442835
HP:0000750	Delayed speech and language development	22906	TRAK1	ORPHA:442835
HP:0000750	Delayed speech and language development	2566	GABRG2	ORPHA:442835
HP:0000750	Delayed speech and language development	1917	EEF1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	1917	EEF1A2	OMIM:616409
HP:0000750	Delayed speech and language development	2561	GABRB2	ORPHA:442835
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:442835
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:1942
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:544254
HP:0000750	Delayed speech and language development	7532	YWHAG	ORPHA:442835
HP:0000750	Delayed speech and language development	79876	UBA5	ORPHA:442835
HP:0000750	Delayed speech and language development	6328	SCN3A	ORPHA:442835
HP:0000750	Delayed speech and language development	6328	SCN3A	OMIM:617935
HP:0000750	Delayed speech and language development	2558	GABRA5	ORPHA:442835
HP:0000750	Delayed speech and language development	781	CACNA2D1	ORPHA:442835
HP:0000750	Delayed speech and language development	2906	GRIN2D	ORPHA:442835
HP:0000750	Delayed speech and language development	10659	CELF2	ORPHA:442835
HP:0000750	Delayed speech and language development	10659	CELF2	OMIM:619561
HP:0000750	Delayed speech and language development	774	CACNA1B	ORPHA:442835
HP:0000750	Delayed speech and language development	1213	CLTC	ORPHA:442835
HP:0000750	Delayed speech and language development	51741	WWOX	ORPHA:442835
HP:0000750	Delayed speech and language development	51741	WWOX	ORPHA:284282
HP:0000750	Delayed speech and language development	23334	SZT2	ORPHA:442835
HP:0000750	Delayed speech and language development	51412	ACTL6B	ORPHA:442835
HP:0000750	Delayed speech and language development	348980	HCN1	ORPHA:442835
HP:0000750	Delayed speech and language development	348980	HCN1	OMIM:618482
HP:0000750	Delayed speech and language development	6506	SLC1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	8867	SYNJ1	ORPHA:442835
HP:0000750	Delayed speech and language development	2258	FGF13	ORPHA:442835
HP:0000750	Delayed speech and language development	3745	KCNB1	ORPHA:442835
HP:0000750	Delayed speech and language development	284111	SLC13A5	ORPHA:442835
HP:0000750	Delayed speech and language development	25977	NECAP1	ORPHA:442835
HP:0000750	Delayed speech and language development	16	AARS1	ORPHA:442835
HP:0000750	Delayed speech and language development	9568	GABBR2	ORPHA:442835
HP:0000750	Delayed speech and language development	2555	GABRA2	ORPHA:442835
HP:0000750	Delayed speech and language development	55152	DALRD3	ORPHA:442835
HP:0000750	Delayed speech and language development	26999	CYFIP2	ORPHA:442835
HP:0000750	Delayed speech and language development	4915	NTRK2	ORPHA:442835
HP:0000750	Delayed speech and language development	25973	PARS2	ORPHA:442835
HP:0000750	Delayed speech and language development	23097	CDK19	ORPHA:442835
HP:0000750	Delayed speech and language development	64801	ARV1	ORPHA:442835
HP:0000750	Delayed speech and language development	2257	FGF12	ORPHA:442835
HP:0000750	Delayed speech and language development	5530	PPP3CA	ORPHA:442835
HP:0000750	Delayed speech and language development	55623	THUMPD1	OMIM:619989
HP:0000750	Delayed speech and language development	284439	SLC25A42	OMIM:618416
HP:0000750	Delayed speech and language development	253738	EBF3	OMIM:617330
HP:0000750	Delayed speech and language development	56006	SMG9	OMIM:619995
HP:0000750	Delayed speech and language development	1182	CLCN3	OMIM:619512
HP:0000750	Delayed speech and language development	29081	METTL5	OMIM:618665
HP:0000750	Delayed speech and language development	10717	AP4B1	OMIM:614066
HP:0000750	Delayed speech and language development	7862	BRPF1	OMIM:617333
HP:0000750	Delayed speech and language development	54914	FOCAD	OMIM:619991
HP:0000750	Delayed speech and language development	8363	H4C11	OMIM:619759
HP:0000750	Delayed speech and language development	7701	ZNF142	OMIM:618425
HP:0000750	Delayed speech and language development	6899	TBX1	ORPHA:1727
HP:0000750	Delayed speech and language development	6899	TBX1	OMIM:188400
HP:0000750	Delayed speech and language development	8659	ALDH4A1	ORPHA:79101
HP:0000750	Delayed speech and language development	26137	ZBTB20	OMIM:259050
HP:0000750	Delayed speech and language development	8314	BAP1	OMIM:619762
HP:0000750	Delayed speech and language development	10021	HCN4	OMIM:619521
HP:0000750	Delayed speech and language development	7750	ZMYM2	OMIM:619522
HP:0000750	Delayed speech and language development	6942	TCF20	OMIM:618430
HP:0000750	Delayed speech and language development	2720	GLB1	OMIM:230650
HP:0000750	Delayed speech and language development	10297	APC2	OMIM:618677
HP:0000750	Delayed speech and language development	10297	APC2	OMIM:617169
HP:0000750	Delayed speech and language development	256471	MFSD8	OMIM:610951
HP:0000750	Delayed speech and language development	51341	ZBTB7A	OMIM:619769
HP:0000750	Delayed speech and language development	9338	TCEAL1	OMIM:301094
HP:0000750	Delayed speech and language development	7030	TFE3	OMIM:301066
HP:0000750	Delayed speech and language development	4123	MAN2C1	OMIM:619775
HP:0000750	Delayed speech and language development	54941	RNF125	OMIM:616260
HP:0000750	Delayed speech and language development	85365	ALG2	OMIM:607906
HP:0000750	Delayed speech and language development	259232	NALCN	OMIM:616266
HP:0000750	Delayed speech and language development	259232	NALCN	ORPHA:371364
HP:0000750	Delayed speech and language development	10463	SLC30A9	OMIM:617595
HP:0000750	Delayed speech and language development	57479	PRR12	OMIM:619539
HP:0000750	Delayed speech and language development	1107	CHD3	OMIM:618205
HP:0000750	Delayed speech and language development	80173	IFT74	OMIM:617119
HP:0000750	Delayed speech and language development	79087	ALG12	ORPHA:79324
HP:0000750	Delayed speech and language development	1173	AP2M1	ORPHA:1942
HP:0000750	Delayed speech and language development	6323	SCN1A	ORPHA:1942
HP:0000750	Delayed speech and language development	1106	CHD2	ORPHA:1942
HP:0000750	Delayed speech and language development	6529	SLC6A1	ORPHA:1942
HP:0000750	Delayed speech and language development	25981	DNAH1	ORPHA:244
HP:0000750	Delayed speech and language development	115948	ODAD3	ORPHA:244
HP:0000750	Delayed speech and language development	54768	HYDIN	ORPHA:244
HP:0000750	Delayed speech and language development	352909	DNAAF3	ORPHA:244
HP:0000750	Delayed speech and language development	27148	STK36	ORPHA:244
HP:0000750	Delayed speech and language development	51314	NME8	ORPHA:244
HP:0000750	Delayed speech and language development	92749	DRC1	ORPHA:244
HP:0000750	Delayed speech and language development	54970	TTC12	ORPHA:244
HP:0000750	Delayed speech and language development	152110	NEK10	ORPHA:244
HP:0000750	Delayed speech and language development	8481	OFD1	ORPHA:244
HP:0000750	Delayed speech and language development	2302	FOXJ1	ORPHA:244
HP:0000750	Delayed speech and language development	221421	RSPH9	ORPHA:244
HP:0000750	Delayed speech and language development	85478	CCDC65	ORPHA:244
HP:0000750	Delayed speech and language development	55036	CCDC40	ORPHA:244
HP:0000750	Delayed speech and language development	51364	ZMYND10	ORPHA:244
HP:0000750	Delayed speech and language development	64446	DNAI2	ORPHA:244
HP:0000750	Delayed speech and language development	6674	SPAG1	ORPHA:244
HP:0000750	Delayed speech and language development	83544	DNAL1	ORPHA:244
HP:0000750	Delayed speech and language development	89765	RSPH1	ORPHA:244
HP:0000750	Delayed speech and language development	83538	ODAD4	ORPHA:244
HP:0000750	Delayed speech and language development	200373	CFAP221	ORPHA:244
HP:0000750	Delayed speech and language development	374407	DNAJB13	ORPHA:244
HP:0000750	Delayed speech and language development	55172	DNAAF2	ORPHA:244
HP:0000750	Delayed speech and language development	161582	DNAAF4	ORPHA:244
HP:0000750	Delayed speech and language development	2622	GAS8	ORPHA:244
HP:0000750	Delayed speech and language development	23639	DNAAF11	ORPHA:244
HP:0000750	Delayed speech and language development	27019	DNAI1	ORPHA:244
HP:0000750	Delayed speech and language development	345895	RSPH4A	ORPHA:244
HP:0000750	Delayed speech and language development	54919	DNAAF5	ORPHA:244
HP:0000750	Delayed speech and language development	6103	RPGR	ORPHA:244
HP:0000750	Delayed speech and language development	388389	CCDC103	ORPHA:244
HP:0000750	Delayed speech and language development	93233	ODAD1	ORPHA:244
HP:0000750	Delayed speech and language development	55130	ODAD2	ORPHA:244
HP:0000750	Delayed speech and language development	1767	DNAH5	ORPHA:244
HP:0000750	Delayed speech and language development	83861	RSPH3	ORPHA:244
HP:0000750	Delayed speech and language development	345643	MCIDAS	ORPHA:244
HP:0000750	Delayed speech and language development	56683	CFAP298	ORPHA:244
HP:0000750	Delayed speech and language development	79925	SPEF2	ORPHA:244
HP:0000750	Delayed speech and language development	10309	CCNO	ORPHA:244
HP:0000750	Delayed speech and language development	115399	LRRC56	ORPHA:244
HP:0000750	Delayed speech and language development	139212	DNAAF6	ORPHA:244
HP:0000750	Delayed speech and language development	123872	DNAAF1	ORPHA:244
HP:0000750	Delayed speech and language development	85016	CFAP300	ORPHA:244
HP:0000750	Delayed speech and language development	339829	CCDC39	ORPHA:244
HP:0000750	Delayed speech and language development	8701	DNAH11	ORPHA:244
HP:0000750	Delayed speech and language development	1770	DNAH9	ORPHA:244
HP:0000750	Delayed speech and language development	246176	GAS2L2	ORPHA:244
HP:0000750	Delayed speech and language development	10262	SF3B4	ORPHA:245
HP:0000750	Delayed speech and language development	10262	SF3B4	OMIM:154400
HP:0000750	Delayed speech and language development	2742	GLRA2	OMIM:301076
HP:0000750	Delayed speech and language development	9896	FIG4	ORPHA:208441
HP:0000750	Delayed speech and language development	26100	WIPI2	OMIM:618453
HP:0000750	Delayed speech and language development	54903	MKS1	OMIM:617121
HP:0000750	Delayed speech and language development	8295	TRRAP	OMIM:618454
HP:0000750	Delayed speech and language development	8621	CDK13	OMIM:617360
HP:0000750	Delayed speech and language development	5256	PHKA2	ORPHA:264580
HP:0000750	Delayed speech and language development	5261	PHKG2	ORPHA:264580
HP:0000750	Delayed speech and language development	5587	PRKD1	OMIM:617364
HP:0000750	Delayed speech and language development	8905	AP1S2	OMIM:304340
HP:0000750	Delayed speech and language development	54808	DYM	ORPHA:239
HP:0000750	Delayed speech and language development	55217	TMLHE	OMIM:300872
HP:0000750	Delayed speech and language development	5898	RALA	OMIM:619311
HP:0000750	Delayed speech and language development	9759	HDAC4	OMIM:619797
HP:0000750	Delayed speech and language development	9759	HDAC4	OMIM:600430
HP:0000750	Delayed speech and language development	30000	TNPO2	OMIM:619556
HP:0000750	Delayed speech and language development	6477	SIAH1	OMIM:619314
HP:0000750	Delayed speech and language development	57102	C12orf4	OMIM:618221
HP:0000750	Delayed speech and language development	51728	POLR3K	OMIM:619310
HP:0000750	Delayed speech and language development	55628	ZNF407	OMIM:619557
HP:0000750	Delayed speech and language development	9256	TSPOAP1	ORPHA:101150
HP:0000750	Delayed speech and language development	1387	CREBBP	ORPHA:353281
HP:0000750	Delayed speech and language development	1387	CREBBP	OMIM:180849
HP:0000750	Delayed speech and language development	1387	CREBBP	ORPHA:353277
HP:0000750	Delayed speech and language development	56521	DNAJC12	OMIM:617384
HP:0000750	Delayed speech and language development	3714	JAG2	OMIM:619566
HP:0000750	Delayed speech and language development	10978	CLP1	ORPHA:411493
HP:0000750	Delayed speech and language development	23030	KDM4B	OMIM:619320
HP:0000750	Delayed speech and language development	443	ASPA	ORPHA:314918
HP:0000750	Delayed speech and language development	5010	CLDN11	OMIM:619328
HP:0000750	Delayed speech and language development	1725	DHPS	OMIM:618480
HP:0000750	Delayed speech and language development	1741	DLG3	OMIM:300850
HP:0000750	Delayed speech and language development	57551	TAOK1	OMIM:619575
HP:0000750	Delayed speech and language development	25929	GEMIN5	OMIM:619333
HP:0000750	Delayed speech and language development	79641	ROGDI	OMIM:226750
HP:0000750	Delayed speech and language development	54496	PRMT7	OMIM:617157
HP:0000750	Delayed speech and language development	84188	FAR1	OMIM:619338
HP:0000750	Delayed speech and language development	9969	MED13	OMIM:618009
HP:0000750	Delayed speech and language development	92344	GORAB	OMIM:231070
HP:0000750	Delayed speech and language development	10157	AASS	OMIM:238700
HP:0000750	Delayed speech and language development	10157	AASS	ORPHA:2203
HP:0000750	Delayed speech and language development	23203	PMPCA	OMIM:213200
HP:0000750	Delayed speech and language development	23203	PMPCA	ORPHA:1170
HP:0000750	Delayed speech and language development	23389	MED13L	ORPHA:369891
HP:0000750	Delayed speech and language development	2898	GRIK2	OMIM:619580
HP:0000750	Delayed speech and language development	1781	DYNC1I2	OMIM:618492
HP:0000750	Delayed speech and language development	7319	UBE2A	OMIM:300860
HP:0000750	Delayed speech and language development	9496	TBX4	ORPHA:261279
HP:0000750	Delayed speech and language development	8091	HMGA2	ORPHA:94063
HP:0000750	Delayed speech and language development	8091	HMGA2	ORPHA:397590
HP:0000750	Delayed speech and language development	23592	LEMD3	ORPHA:94063
HP:0000750	Delayed speech and language development	22808	MRAS	OMIM:618499
HP:0000750	Delayed speech and language development	8635	RNASET2	OMIM:612951
HP:0000750	Delayed speech and language development	23594	ORC6	OMIM:613803
HP:0000750	Delayed speech and language development	1756	DMD	ORPHA:98896
HP:0000750	Delayed speech and language development	8425	LTBP4	ORPHA:98896
HP:0000750	Delayed speech and language development	80185	TTI2	ORPHA:391307
HP:0000750	Delayed speech and language development	80185	TTI2	OMIM:615541
HP:0000750	Delayed speech and language development	2628	GATM	OMIM:612718
HP:0000750	Delayed speech and language development	10771	ZMYND11	OMIM:616083
HP:0000750	Delayed speech and language development	6611	SMS	ORPHA:3063
HP:0000750	Delayed speech and language development	7068	THRB	OMIM:188570
HP:0000750	Delayed speech and language development	5977	DPF2	OMIM:618027
HP:0000750	Delayed speech and language development	35	ACADS	OMIM:201470
HP:0000750	Delayed speech and language development	35	ACADS	ORPHA:26792
HP:0000750	Delayed speech and language development	10847	SRCAP	OMIM:619595
HP:0000750	Delayed speech and language development	10847	SRCAP	ORPHA:2044
HP:0000750	Delayed speech and language development	10847	SRCAP	OMIM:136140
HP:0000750	Delayed speech and language development	55526	DHTKD1	OMIM:204750
HP:0000750	Delayed speech and language development	3839	KPNA3	OMIM:620106
HP:0000750	Delayed speech and language development	79005	SCNM1	OMIM:620107
HP:0000750	Delayed speech and language development	1605	DAG1	OMIM:613818
HP:0000750	Delayed speech and language development	55210	ATAD3A	OMIM:617183
HP:0000750	Delayed speech and language development	2077	ERF	OMIM:617180
HP:0000750	Delayed speech and language development	2077	ERF	OMIM:600775
HP:0000750	Delayed speech and language development	90522	YIF1B	OMIM:619125
HP:0000750	Delayed speech and language development	29123	ANKRD11	ORPHA:261250
HP:0000750	Delayed speech and language development	6197	RPS6KA3	OMIM:300844
HP:0000750	Delayed speech and language development	1200	TPP1	OMIM:204500
HP:0000750	Delayed speech and language development	118924	FRA10AC1	OMIM:620113
HP:0000750	Delayed speech and language development	2593	GAMT	OMIM:612736
HP:0000750	Delayed speech and language development	55252	ASXL2	OMIM:617190
HP:0000750	Delayed speech and language development	6904	TBCD	OMIM:617193
HP:0000750	Delayed speech and language development	4508	MT-ATP6	ORPHA:225154
HP:0000750	Delayed speech and language development	23636	NUP62	ORPHA:225154
HP:0000750	Delayed speech and language development	103	ADAR	ORPHA:225154
HP:0000750	Delayed speech and language development	3739	KCNA4	OMIM:618284
HP:0000750	Delayed speech and language development	23154	NCDN	OMIM:619373
HP:0000750	Delayed speech and language development	4781	NFIB	OMIM:618286
HP:0000750	Delayed speech and language development	55074	OXR1	OMIM:213000
HP:0000750	Delayed speech and language development	11011	TLK2	OMIM:618050
HP:0000750	Delayed speech and language development	27161	AGO2	OMIM:619149
HP:0000750	Delayed speech and language development	8665	EIF3F	OMIM:618295
HP:0000750	Delayed speech and language development	221927	BRAT1	OMIM:618056
HP:0000750	Delayed speech and language development	161742	SPRED1	ORPHA:137605
HP:0000750	Delayed speech and language development	64858	DCLRE1B	OMIM:620133
HP:0000750	Delayed speech and language development	3480	IGF1R	OMIM:270450
HP:0000750	Delayed speech and language development	9325	TRIP4	ORPHA:486815
HP:0000750	Delayed speech and language development	11113	CIT	OMIM:617090
HP:0000750	Delayed speech and language development	4702	NDUFA8	OMIM:619272
HP:0000750	Delayed speech and language development	27183	VPS4A	OMIM:619273
HP:0000750	Delayed speech and language development	10128	LRPPRC	OMIM:220111
HP:0000750	Delayed speech and language development	7337	UBE3A	ORPHA:238446
HP:0000750	Delayed speech and language development	158	ADSL	OMIM:103050
HP:0000750	Delayed speech and language development	375	ARF1	OMIM:618185
HP:0000750	Delayed speech and language development	23019	CNOT1	OMIM:619033
HP:0000750	Delayed speech and language development	55503	TRPV6	OMIM:618188
HP:0000750	Delayed speech and language development	775	CACNA1C	OMIM:620029
HP:0000750	Delayed speech and language development	7109	TRAPPC10	OMIM:620027
HP:0000750	Delayed speech and language development	55777	MBD5	ORPHA:228402
HP:0000750	Delayed speech and language development	132158	GLYCTK	ORPHA:941
HP:0000750	Delayed speech and language development	501	ALDH7A1	OMIM:266100
HP:0000750	Delayed speech and language development	9442	MED27	OMIM:619286
HP:0000750	Delayed speech and language development	4649	MYO9A	OMIM:618198
HP:0000750	Delayed speech and language development	25914	RTTN	OMIM:614833
HP:0000750	Delayed speech and language development	25782	RAB3GAP2	OMIM:212720
HP:0000750	Delayed speech and language development	7102	TSPAN7	OMIM:300210
HP:0000750	Delayed speech and language development	57492	ARID1B	OMIM:135900
HP:0000750	Delayed speech and language development	116228	COX20	OMIM:619054
HP:0000750	Delayed speech and language development	26277	TINF2	OMIM:613990
HP:0000750	Delayed speech and language development	9739	SETD1A	OMIM:619056
HP:0000750	Delayed speech and language development	340024	SLC6A19	OMIM:234500
HP:0000750	Delayed speech and language development	93986	FOXP2	ORPHA:209908
HP:0000750	Delayed speech and language development	93986	FOXP2	OMIM:602081
HP:0000750	Delayed speech and language development	8289	ARID1A	OMIM:614607
HP:0000750	Delayed speech and language development	10716	TBR1	OMIM:606053
HP:0000750	Delayed speech and language development	4697	NDUFA4	OMIM:619065
HP:0000750	Delayed speech and language development	79813	EHMT1	OMIM:610253
HP:0000750	Delayed speech and language development	79813	EHMT1	ORPHA:261652
HP:0000750	Delayed speech and language development	10382	TUBB4A	OMIM:612438
HP:0000750	Delayed speech and language development	5230	PGK1	ORPHA:713
HP:0000750	Delayed speech and language development	5230	PGK1	OMIM:300653
HP:0000750	Delayed speech and language development	7915	ALDH5A1	OMIM:271980
HP:0000750	Delayed speech and language development	2697	GJA1	OMIM:257850
HP:0000750	Delayed speech and language development	2615	LRRC32	OMIM:619074
HP:0000750	Delayed speech and language development	4953	ODC1	OMIM:619075
HP:0000750	Delayed speech and language development	9289	ADGRG1	ORPHA:98889
HP:0000750	Delayed speech and language development	5297	PI4KA	ORPHA:98889
HP:0000750	Delayed speech and language development	5297	PI4KA	OMIM:619708
HP:0000750	Delayed speech and language development	22859	ADGRL1	OMIM:620065
HP:0000750	Delayed speech and language development	6558	SLC12A2	OMIM:619083
HP:0000750	Delayed speech and language development	58508	KMT2C	ORPHA:261652
HP:0000750	Delayed speech and language development	58508	KMT2C	OMIM:617768
HP:0000750	Delayed speech and language development	5594	MAPK1	OMIM:619087
HP:0000750	Delayed speech and language development	3481	IGF2	ORPHA:397590
HP:0000750	Delayed speech and language development	1028	CDKN1C	ORPHA:397590
HP:0000750	Delayed speech and language development	5324	PLAG1	ORPHA:397590
HP:0000750	Delayed speech and language development	284217	LAMA1	OMIM:615960
HP:0000750	Delayed speech and language development	284217	LAMA1	ORPHA:370022
HP:0000750	Delayed speech and language development	286262	TPRN	OMIM:613307
HP:0000750	Delayed speech and language development	51244	CCDC174	OMIM:616816
HP:0000750	Delayed speech and language development	54862	CC2D1A	OMIM:608443
HP:0000750	Delayed speech and language development	23065	EMC1	ORPHA:480898
HP:0000750	Delayed speech and language development	23065	EMC1	OMIM:616875
HP:0000750	Delayed speech and language development	10430	TMEM147	OMIM:620075
HP:0000750	Delayed speech and language development	11152	WDR45	OMIM:300894
HP:0000750	Delayed speech and language development	22880	MORC2	OMIM:619090
HP:0000750	Delayed speech and language development	5295	PIK3R1	OMIM:269880
HP:0000750	Delayed speech and language development	4677	NARS1	OMIM:619091
HP:0000750	Delayed speech and language development	4677	NARS1	OMIM:619092
HP:0000750	Delayed speech and language development	50484	RRM2B	OMIM:268315
HP:0000750	Delayed speech and language development	254065	BRWD3	OMIM:300659
HP:0000750	Delayed speech and language development	9147	NEMF	OMIM:619099
HP:0000750	Delayed speech and language development	1384	CRAT	OMIM:617917
HP:0000750	Delayed speech and language development	85021	REPS1	OMIM:617916
HP:0000750	Delayed speech and language development	1487	CTBP1	OMIM:617915
HP:0000750	Delayed speech and language development	197322	ACSF3	ORPHA:289504
HP:0000750	Delayed speech and language development	54413	NLGN3	OMIM:300425
HP:0000750	Delayed speech and language development	9775	EIF4A3	OMIM:268305
HP:0000750	Delayed speech and language development	93183	PIGM	OMIM:610293
HP:0000750	Delayed speech and language development	2702	GJA5	OMIM:612474
HP:0000750	Delayed speech and language development	2703	GJA8	OMIM:612474
HP:0000750	Delayed speech and language development	867	CBL	OMIM:613563
HP:0000750	Delayed speech and language development	29072	SETD2	OMIM:616831
HP:0000750	Delayed speech and language development	3897	L1CAM	ORPHA:2466
HP:0000750	Delayed speech and language development	51053	GMNN	OMIM:616835
HP:0000750	Delayed speech and language development	27241	BBS9	OMIM:615986
HP:0000750	Delayed speech and language development	2719	GPC3	OMIM:312870
HP:0000750	Delayed speech and language development	2239	GPC4	OMIM:312870
HP:0000750	Delayed speech and language development	27152	INTU	OMIM:617926
HP:0000750	Delayed speech and language development	274	BIN1	ORPHA:169186
HP:0000750	Delayed speech and language development	10290	SPEG	ORPHA:169186
HP:0000750	Delayed speech and language development	6261	RYR1	ORPHA:169186
HP:0000750	Delayed speech and language development	7273	TTN	ORPHA:169186
HP:0000750	Delayed speech and language development	9158	FIBP	ORPHA:500095
HP:0000750	Delayed speech and language development	4683	NBN	OMIM:251260
HP:0000750	Delayed speech and language development	9698	PUM1	OMIM:617931
HP:0000750	Delayed speech and language development	29926	GMPPA	OMIM:615510
HP:0000750	Delayed speech and language development	658	BMPR1B	OMIM:616849
HP:0000750	Delayed speech and language development	57511	COG6	ORPHA:363523
HP:0000750	Delayed speech and language development	57511	COG6	OMIM:615328
HP:0000750	Delayed speech and language development	113179	ADAT3	ORPHA:363528
HP:0000750	Delayed speech and language development	55784	MCTP2	ORPHA:1596
HP:0000750	Delayed speech and language development	5831	PYCR1	OMIM:614438
HP:0000750	Delayed speech and language development	3736	KCNA1	ORPHA:37612
HP:0000750	Delayed speech and language development	26224	FBXL3	OMIM:606220
HP:0000750	Delayed speech and language development	2592	GALT	ORPHA:79239
HP:0000750	Delayed speech and language development	4204	MECP2	OMIM:300055
HP:0000750	Delayed speech and language development	4204	MECP2	OMIM:300496
HP:0000750	Delayed speech and language development	10484	SEC23A	ORPHA:50814
HP:0000750	Delayed speech and language development	7874	USP7	OMIM:616863
HP:0000750	Delayed speech and language development	7874	USP7	ORPHA:500055
HP:0000750	Delayed speech and language development	55603	TENT5A	OMIM:617952
HP:0000750	Delayed speech and language development	26007	TKFC	OMIM:618805
HP:0000750	Delayed speech and language development	27315	PGAP2	OMIM:614207
HP:0000750	Delayed speech and language development	64131	XYLT1	OMIM:615777
HP:0000750	Delayed speech and language development	5257	PHKB	ORPHA:79240
HP:0000750	Delayed speech and language development	128989	TANGO2	ORPHA:480864
HP:0000750	Delayed speech and language development	5718	PSMD12	ORPHA:529962
HP:0000750	Delayed speech and language development	5718	PSMD12	OMIM:617516
HP:0000750	Delayed speech and language development	2186	BPTF	ORPHA:529962
HP:0000750	Delayed speech and language development	2186	BPTF	OMIM:617755
HP:0000750	Delayed speech and language development	54664	TMEM106B	OMIM:617964
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276238
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276244
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276241
HP:0000750	Delayed speech and language development	27010	TPK1	OMIM:614458
HP:0000750	Delayed speech and language development	55644	OSGEP	OMIM:617729
HP:0000750	Delayed speech and language development	57572	DOCK6	OMIM:614219
HP:0000750	Delayed speech and language development	54658	UGT1A1	ORPHA:79234
HP:0000750	Delayed speech and language development	7074	TIAM1	OMIM:619908
HP:0000750	Delayed speech and language development	2464	FRA16E	OMIM:136570
HP:0000750	Delayed speech and language development	112858	TP53RK	OMIM:617730
HP:0000750	Delayed speech and language development	1778	DYNC1H1	OMIM:614228
HP:0000750	Delayed speech and language development	4929	NR4A2	OMIM:619911
HP:0000750	Delayed speech and language development	285175	UNC80	ORPHA:371364
HP:0000750	Delayed speech and language development	8405	SPOP	OMIM:618828
HP:0000750	Delayed speech and language development	8405	SPOP	OMIM:618829
HP:0000750	Delayed speech and language development	26047	CNTNAP2	ORPHA:163681
HP:0000750	Delayed speech and language development	10585	POMT1	ORPHA:86812
HP:0000750	Delayed speech and language development	54870	QRICH1	OMIM:617982
HP:0000750	Delayed speech and language development	4780	NFE2L2	OMIM:617744
HP:0000750	Delayed speech and language development	2890	GRIA1	OMIM:619927
HP:0000750	Delayed speech and language development	54805	CNNM2	OMIM:616418
HP:0000750	Delayed speech and language development	5500	PPP1CB	OMIM:617506
HP:0000750	Delayed speech and language development	7291	TWIST1	OMIM:617746
HP:0000750	Delayed speech and language development	126792	B3GALT6	ORPHA:536467
HP:0000750	Delayed speech and language development	57502	NLGN4X	OMIM:300495
HP:0000750	Delayed speech and language development	4047	LSS	OMIM:618840
HP:0000750	Delayed speech and language development	9320	TRIP12	OMIM:617752
HP:0000750	Delayed speech and language development	529	ATP6V1E1	ORPHA:357074
HP:0000750	Delayed speech and language development	51780	KDM3B	OMIM:618846
HP:0000750	Delayed speech and language development	8575	PRKRA	OMIM:612067
HP:0000750	Delayed speech and language development	5455	POU3F3	OMIM:618604
HP:0000750	Delayed speech and language development	119559	SFXN4	OMIM:615578
HP:0000750	Delayed speech and language development	4848	CNOT2	OMIM:618608
HP:0000750	Delayed speech and language development	1807	DPYS	OMIM:222748
HP:0000750	Delayed speech and language development	2639	GCDH	OMIM:231670
HP:0000750	Delayed speech and language development	23133	PHF8	OMIM:300263
HP:0000750	Delayed speech and language development	84706	GPT2	ORPHA:477673
HP:0000750	Delayed speech and language development	23404	EXOSC2	OMIM:617763
HP:0000750	Delayed speech and language development	8738	CRADD	OMIM:614499
HP:0000750	Delayed speech and language development	4858	NOVA2	OMIM:618859
HP:0000750	Delayed speech and language development	9181	ARHGEF2	OMIM:617523
HP:0000750	Delayed speech and language development	547	KIF1A	OMIM:614255
HP:0000750	Delayed speech and language development	58499	ZNF462	OMIM:618619
HP:0000750	Delayed speech and language development	2582	GALE	OMIM:230350
HP:0000750	Delayed speech and language development	2137	EXTL3	ORPHA:508533
HP:0000750	Delayed speech and language development	29925	GMPPB	OMIM:615350
HP:0000750	Delayed speech and language development	104	ADARB1	OMIM:618862
HP:0000750	Delayed speech and language development	55823	VPS11	OMIM:616683
HP:0000750	Delayed speech and language development	55823	VPS11	ORPHA:466934
HP:0000750	Delayed speech and language development	2775	GNAO1	OMIM:615473
HP:0000750	Delayed speech and language development	2775	GNAO1	OMIM:617493
HP:0000750	Delayed speech and language development	51569	UFM1	OMIM:617899
HP:0000750	Delayed speech and language development	9254	CACNA2D2	OMIM:618501
HP:0000750	Delayed speech and language development	7360	UGP2	OMIM:618744
HP:0000750	Delayed speech and language development	79848	CSPP1	ORPHA:397715
HP:0000750	Delayed speech and language development	9786	KIAA0586	ORPHA:397715
HP:0000750	Delayed speech and language development	65993	MRPS34	OMIM:617664
HP:0000750	Delayed speech and language development	387787	LIPT2	OMIM:617668
HP:0000750	Delayed speech and language development	166378	AFG2A	OMIM:616577
HP:0000750	Delayed speech and language development	65082	VPS33A	OMIM:617303
HP:0000750	Delayed speech and language development	65082	VPS33A	ORPHA:505248
HP:0000750	Delayed speech and language development	10730	YME1L1	OMIM:617302
HP:0000750	Delayed speech and language development	10565	ARFGEF1	OMIM:619964
HP:0000750	Delayed speech and language development	5610	EIF2AK2	OMIM:618877
HP:0000750	Delayed speech and language development	55768	NGLY1	ORPHA:404454
HP:0000750	Delayed speech and language development	3190	HNRNPK	OMIM:616580
HP:0000750	Delayed speech and language development	7343	UBTF	OMIM:617672
HP:0000750	Delayed speech and language development	7343	UBTF	ORPHA:500180
HP:0000750	Delayed speech and language development	150094	SIK1	OMIM:616341
HP:0000750	Delayed speech and language development	3064	HTT	OMIM:617435
HP:0000750	Delayed speech and language development	81857	MED25	ORPHA:464738
HP:0000750	Delayed speech and language development	170825	GSX2	OMIM:618646
HP:0000750	Delayed speech and language development	7920	ABHD16A	OMIM:619735
HP:0000750	Delayed speech and language development	83480	PUS3	ORPHA:488627
HP:0000750	Delayed speech and language development	283987	HID1	OMIM:619983
HP:0000750	Delayed speech and language development	22884	WDR37	OMIM:618652
HP:0000750	Delayed speech and language development	1193	CLIC2	ORPHA:324410
HP:0000750	Delayed speech and language development	1193	CLIC2	OMIM:300886
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93926
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93924
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93925
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:220386
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93926
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93924
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93925
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:220386
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93926
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93924
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93925
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:220386
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93926
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93924
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93925
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:220386
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93926
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93924
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93925
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:220386
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93926
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93924
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93925
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:220386
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93926
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93924
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93925
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:220386
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93926
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93924
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93925
HP:0000750	Delayed speech and language development	6491	STIL	OMIM:612703
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:220386
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93926
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93924
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93925
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:220386
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93926
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93924
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93925
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:220386
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93926
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93924
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93925
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:220386
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93926
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93924
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93925
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:220386
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93926
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93924
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93925
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:220386
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93926
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93924
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93925
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:220386
HP:0000750	Delayed speech and language development	23007	PLCH1	ORPHA:93925
HP:0000750	Delayed speech and language development	6905	TBCE	OMIM:617207
HP:0000750	Delayed speech and language development	5518	PPP2R1A	OMIM:616362
HP:0000750	Delayed speech and language development	5518	PPP2R1A	ORPHA:457284
HP:0000750	Delayed speech and language development	84879	MFSD2A	OMIM:616486
HP:0000750	Delayed speech and language development	27089	UQCRQ	OMIM:615159
HP:0000750	Delayed speech and language development	4191	MDH2	OMIM:617339
HP:0000750	Delayed speech and language development	54828	BCAS3	OMIM:619641
HP:0000750	Delayed speech and language development	3800	KIF5C	OMIM:615282
HP:0000750	Delayed speech and language development	122961	ISCA2	OMIM:616370
HP:0000750	Delayed speech and language development	253959	RALGAPA1	OMIM:618797
HP:0000750	Delayed speech and language development	2904	GRIN2B	OMIM:616139
HP:0000750	Delayed speech and language development	9562	MINPP1	OMIM:619527
HP:0000750	Delayed speech and language development	6925	TCF4	OMIM:610954
HP:0000750	Delayed speech and language development	6925	TCF4	ORPHA:2896
HP:0000750	Delayed speech and language development	57192	MCOLN1	ORPHA:578
HP:0000750	Delayed speech and language development	57192	MCOLN1	OMIM:252650
HP:0000750	Delayed speech and language development	10667	FARS2	ORPHA:466722
HP:0000750	Delayed speech and language development	23556	PIGN	OMIM:614080
HP:0000750	Delayed speech and language development	9922	IQSEC1	OMIM:618687
HP:0000750	Delayed speech and language development	284098	PIGW	OMIM:616025
HP:0000750	Delayed speech and language development	388662	SLC6A17	OMIM:616269
HP:0000750	Delayed speech and language development	7994	KAT6A	OMIM:616268
HP:0000750	Delayed speech and language development	51227	PIGP	OMIM:617599
HP:0000750	Delayed speech and language development	23499	MACF1	OMIM:618325
HP:0000750	Delayed speech and language development	51645	PPIL1	OMIM:619301
HP:0000750	Delayed speech and language development	58497	PRUNE1	OMIM:617481
HP:0000750	Delayed speech and language development	58497	PRUNE1	ORPHA:544469
HP:0000750	Delayed speech and language development	26173	INTS1	OMIM:618571
HP:0000750	Delayed speech and language development	55656	INTS8	OMIM:618572
HP:0000750	Delayed speech and language development	3658	IREB2	OMIM:618451
HP:0000750	Delayed speech and language development	51693	TRAPPC2L	OMIM:618331
HP:0000750	Delayed speech and language development	6857	SYT1	OMIM:618218
HP:0000750	Delayed speech and language development	6857	SYT1	ORPHA:522077
HP:0000750	Delayed speech and language development	81603	TRIM8	OMIM:619428
HP:0000750	Delayed speech and language development	5277	PIGA	OMIM:301072
HP:0000750	Delayed speech and language development	5277	PIGA	OMIM:300868
HP:0000750	Delayed speech and language development	11160	ERLIN2	ORPHA:280384
HP:0000750	Delayed speech and language development	11160	ERLIN2	ORPHA:209951
HP:0000750	Delayed speech and language development	11160	ERLIN2	OMIM:611225
HP:0000750	Delayed speech and language development	10059	DNM1L	ORPHA:330050
HP:0000750	Delayed speech and language development	8925	HERC1	OMIM:617011
HP:0000750	Delayed speech and language development	8925	HERC1	ORPHA:457359
HP:0000750	Delayed speech and language development	84894	LINGO1	OMIM:618103
HP:0000750	Delayed speech and language development	56896	DPYSL5	OMIM:619435
HP:0000750	Delayed speech and language development	54892	NCAPG2	OMIM:618460
HP:0000750	Delayed speech and language development	23516	SLC39A14	OMIM:617013
HP:0000750	Delayed speech and language development	8573	CASK	OMIM:300749
HP:0000750	Delayed speech and language development	8573	CASK	ORPHA:163937
HP:0000750	Delayed speech and language development	92335	STRADA	ORPHA:500533
HP:0000750	Delayed speech and language development	92335	STRADA	OMIM:611087
HP:0000750	Delayed speech and language development	8818	DPM2	ORPHA:329178
HP:0000750	Delayed speech and language development	9526	MPDU1	OMIM:609180
HP:0000750	Delayed speech and language development	10733	PLK4	OMIM:616171
HP:0000750	Delayed speech and language development	11277	TREX1	OMIM:225750
HP:0000750	Delayed speech and language development	6647	SOD1	OMIM:618598
HP:0000750	Delayed speech and language development	4081	MAB21L1	OMIM:618479
HP:0000750	Delayed speech and language development	154881	KCTD7	OMIM:611726
HP:0000750	Delayed speech and language development	29954	POMT2	OMIM:236670
HP:0000750	Delayed speech and language development	9215	LARGE1	OMIM:236670
HP:0000750	Delayed speech and language development	79147	FKRP	OMIM:236670
HP:0000750	Delayed speech and language development	8869	ST3GAL5	OMIM:609056
HP:0000750	Delayed speech and language development	4948	OCA2	ORPHA:98794
HP:0000750	Delayed speech and language development	56915	EXOSC5	OMIM:619576
HP:0000750	Delayed speech and language development	23221	RHOBTB2	OMIM:618004
HP:0000750	Delayed speech and language development	112939	NACC1	OMIM:617393
HP:0000750	Delayed speech and language development	55572	FOXRED1	OMIM:618241
HP:0000750	Delayed speech and language development	7965	AIMP2	OMIM:618006
HP:0000750	Delayed speech and language development	3376	IARS1	ORPHA:541423
HP:0000750	Delayed speech and language development	3376	IARS1	OMIM:617093
HP:0000750	Delayed speech and language development	29920	PYCR2	ORPHA:481152
HP:0000750	Delayed speech and language development	29920	PYCR2	OMIM:616420
HP:0000750	Delayed speech and language development	51608	GET4	OMIM:620200
HP:0000750	Delayed speech and language development	8604	SLC25A12	OMIM:612949
HP:0000750	Delayed speech and language development	6821	SUOX	OMIM:272300
HP:0000750	Delayed speech and language development	7703	PCGF2	OMIM:618371
HP:0000750	Delayed speech and language development	23258	DENND5A	OMIM:617281
HP:0000750	Delayed speech and language development	5631	PRPS1	OMIM:301835
HP:0000750	Delayed speech and language development	389856	USP27X	OMIM:300984
HP:0000750	Delayed speech and language development	1822	ATN1	OMIM:618494
HP:0000750	Delayed speech and language development	3188	HNRNPH2	OMIM:300986
HP:0000750	Delayed speech and language development	5281	PIGF	OMIM:619356
HP:0000750	Delayed speech and language development	2290	FOXG1	ORPHA:261144
HP:0000750	Delayed speech and language development	2290	FOXG1	OMIM:613454
HP:0000750	Delayed speech and language development	57003	CCDC47	OMIM:618268
HP:0000750	Delayed speech and language development	94005	PIGS	OMIM:618143
HP:0000750	Delayed speech and language development	10682	EBP	OMIM:300960
HP:0000750	Delayed speech and language development	22983	MAST1	OMIM:618273
HP:0000750	Delayed speech and language development	23287	AGTPBP1	OMIM:618276
HP:0000750	Delayed speech and language development	79143	MBOAT7	OMIM:617188
HP:0000750	Delayed speech and language development	57038	RARS2	OMIM:611523
HP:0000750	Delayed speech and language development	498	ATP5F1A	OMIM:620358
HP:0000750	Delayed speech and language development	8911	CACNA1I	OMIM:620114
HP:0000750	Delayed speech and language development	10479	SLC9A6	ORPHA:85278
HP:0000750	Delayed speech and language development	10479	SLC9A6	OMIM:300243
HP:0000750	Delayed speech and language development	777	CACNA1E	OMIM:618285
HP:0000750	Delayed speech and language development	55835	CENPJ	OMIM:608393
HP:0000750	Delayed speech and language development	55005	RMND1	OMIM:614922
HP:0000750	Delayed speech and language development	84081	NSRP1	OMIM:620001
HP:0000750	Delayed speech and language development	124454	EARS2	OMIM:614924
HP:0000750	Delayed speech and language development	1795	DOCK3	OMIM:618292
HP:0000750	Delayed speech and language development	60684	TRAPPC11	ORPHA:369840
HP:0000750	Delayed speech and language development	3735	KARS1	OMIM:619147
HP:0000750	Delayed speech and language development	27072	VPS41	OMIM:619389
HP:0000750	Delayed speech and language development	56947	MFF	OMIM:617086
HP:0000750	Delayed speech and language development	1496	CTNNA2	OMIM:618174
HP:0000750	Delayed speech and language development	87178	PNPT1	OMIM:614932
HP:0000750	Delayed speech and language development	87178	PNPT1	ORPHA:319514
HP:0000750	Delayed speech and language development	199857	ALG14	OMIM:619031
HP:0000750	Delayed speech and language development	1183	CLCN4	OMIM:300114
HP:0000750	Delayed speech and language development	347734	SLC35B2	OMIM:620269
HP:0000750	Delayed speech and language development	55325	UFSP2	OMIM:620028
HP:0000750	Delayed speech and language development	1119	CHKA	OMIM:620023
HP:0000750	Delayed speech and language development	8496	PPFIBP1	OMIM:620024
HP:0000750	Delayed speech and language development	4983	OPHN1	OMIM:300486
HP:0000750	Delayed speech and language development	6531	SLC6A3	ORPHA:238455
HP:0000750	Delayed speech and language development	89910	UBE3B	OMIM:244450
HP:0000750	Delayed speech and language development	51506	UFC1	OMIM:618076
HP:0000750	Delayed speech and language development	5689	PSMB1	OMIM:620038
HP:0000750	Delayed speech and language development	271	AMPD2	OMIM:615809
HP:0000750	Delayed speech and language development	56992	KIF15	ORPHA:261323
HP:0000750	Delayed speech and language development	64207	IRF2BPL	OMIM:618088
HP:0000750	Delayed speech and language development	5119	CHMP1A	OMIM:614961
HP:0000750	Delayed speech and language development	55157	DARS2	ORPHA:137898
HP:0000750	Delayed speech and language development	114034	TOE1	OMIM:614969
HP:0000750	Delayed speech and language development	894	CCND2	OMIM:615938
HP:0000750	Delayed speech and language development	6597	SMARCA4	OMIM:614609
HP:0000750	Delayed speech and language development	6597	SMARCA4	ORPHA:1465
HP:0000750	Delayed speech and language development	23116	TOGARAM1	OMIM:619185
HP:0000750	Delayed speech and language development	79583	TMEM231	OMIM:614970
HP:0000750	Delayed speech and language development	10352	WARS2	ORPHA:572798
HP:0000750	Delayed speech and language development	10352	WARS2	OMIM:617710
HP:0000750	Delayed speech and language development	26005	C2CD3	OMIM:615948
HP:0000750	Delayed speech and language development	84947	SERAC1	OMIM:614739
HP:0000750	Delayed speech and language development	7025	NR2F1	ORPHA:401777
HP:0000750	Delayed speech and language development	9255	AIMP1	OMIM:260600
HP:0000750	Delayed speech and language development	54499	TMCO1	OMIM:213980
HP:0000750	Delayed speech and language development	93210	PGAP3	OMIM:615716
HP:0000750	Delayed speech and language development	83475	DOHH	OMIM:620066
HP:0000750	Delayed speech and language development	51611	DPH5	OMIM:620070
HP:0000750	Delayed speech and language development	5700	PSMC1	OMIM:620071
HP:0000750	Delayed speech and language development	440138	ALG11	OMIM:613661
HP:0000750	Delayed speech and language development	64135	IFIH1	OMIM:615846
HP:0000750	Delayed speech and language development	6605	SMARCE1	OMIM:616938
HP:0000750	Delayed speech and language development	6605	SMARCE1	ORPHA:1465
HP:0000750	Delayed speech and language development	55691	FRMD4A	OMIM:616819
HP:0000750	Delayed speech and language development	55691	FRMD4A	ORPHA:466688
HP:0000750	Delayed speech and language development	3187	HNRNPH1	OMIM:620083
HP:0000750	Delayed speech and language development	7355	SLC35A2	OMIM:300896
HP:0000750	Delayed speech and language development	50628	GEMIN4	OMIM:617913
HP:0000750	Delayed speech and language development	85440	DOCK7	OMIM:615859
HP:0000750	Delayed speech and language development	7407	VARS1	OMIM:617802
HP:0000750	Delayed speech and language development	9894	TELO2	OMIM:616954
HP:0000750	Delayed speech and language development	9894	TELO2	ORPHA:488642
HP:0000750	Delayed speech and language development	9230	RAB11B	OMIM:617807
HP:0000750	Delayed speech and language development	51807	TUBA8	ORPHA:250972
HP:0000750	Delayed speech and language development	22845	DOLK	ORPHA:91131
HP:0000750	Delayed speech and language development	79587	CARS2	ORPHA:477774
HP:0000750	Delayed speech and language development	84162	BLTP1	OMIM:617822
HP:0000750	Delayed speech and language development	2902	GRIN1	OMIM:617820
HP:0000750	Delayed speech and language development	2902	GRIN1	OMIM:614254
HP:0000750	Delayed speech and language development	7280	TUBB2A	OMIM:615763
HP:0000750	Delayed speech and language development	998	CDC42	OMIM:616737
HP:0000750	Delayed speech and language development	998	CDC42	ORPHA:487796
HP:0000750	Delayed speech and language development	51010	EXOSC3	OMIM:614678
HP:0000750	Delayed speech and language development	23732	FRRS1L	OMIM:616981
HP:0000750	Delayed speech and language development	9512	PMPCB	OMIM:617954
HP:0000750	Delayed speech and language development	6598	SMARCB1	ORPHA:1465
HP:0000750	Delayed speech and language development	6664	SOX11	ORPHA:1465
HP:0000750	Delayed speech and language development	51185	CRBN	OMIM:607417
HP:0000750	Delayed speech and language development	84342	COG8	OMIM:611182
HP:0000750	Delayed speech and language development	55969	RAB5IF	OMIM:616994
HP:0000750	Delayed speech and language development	51501	HIKESHI	OMIM:616881
HP:0000750	Delayed speech and language development	55180	LINS1	OMIM:614340
HP:0000750	Delayed speech and language development	3747	KCNC2	OMIM:619913
HP:0000750	Delayed speech and language development	22931	RAB18	OMIM:614222
HP:0000750	Delayed speech and language development	56270	WDR45B	OMIM:617977
HP:0000750	Delayed speech and language development	6182	MRPL12	OMIM:618951
HP:0000750	Delayed speech and language development	200894	ARL13B	OMIM:612291
HP:0000750	Delayed speech and language development	122553	TRAPPC6B	OMIM:617862
HP:0000750	Delayed speech and language development	9918	NCAPD2	OMIM:617983
HP:0000750	Delayed speech and language development	57688	ZSWIM6	OMIM:617865
HP:0000750	Delayed speech and language development	2893	GRIA4	OMIM:617864
HP:0000750	Delayed speech and language development	79867	TCTN2	OMIM:616654
HP:0000750	Delayed speech and language development	55704	CCDC88A	OMIM:617507
HP:0000750	Delayed speech and language development	55164	SHQ1	OMIM:619922
HP:0000750	Delayed speech and language development	3756	KCNH1	ORPHA:420561
HP:0000750	Delayed speech and language development	51	ACOX1	OMIM:618960
HP:0000750	Delayed speech and language development	5879	RAC1	OMIM:617751
HP:0000750	Delayed speech and language development	5879	RAC1	ORPHA:500159
HP:0000750	Delayed speech and language development	9197	SLC33A1	OMIM:614482
HP:0000750	Delayed speech and language development	57731	SPTBN4	OMIM:617519
HP:0000750	Delayed speech and language development	57194	ATP10A	ORPHA:411515
HP:0000750	Delayed speech and language development	9990	SLC12A6	OMIM:218000
HP:0000750	Delayed speech and language development	79158	GNPTAB	ORPHA:576
HP:0000750	Delayed speech and language development	8565	YARS1	OMIM:619418
HP:0000750	Delayed speech and language development	6389	SDHA	ORPHA:3208
HP:0000750	Delayed speech and language development	6392	SDHD	ORPHA:3208
HP:0000750	Delayed speech and language development	644096	SDHAF1	ORPHA:3208
HP:0000750	Delayed speech and language development	201163	FLCN	OMIM:610883
HP:0000750	Delayed speech and language development	9439	MED23	OMIM:614249
HP:0000750	Delayed speech and language development	10020	GNE	ORPHA:3166
HP:0000750	Delayed speech and language development	22827	PUF60	ORPHA:508488
HP:0000750	Delayed speech and language development	6472	SHMT2	OMIM:619121
HP:0000750	Delayed speech and language development	55186	SLC25A36	OMIM:620211
HP:0000750	Delayed speech and language development	171023	ASXL1	ORPHA:97297
HP:0000750	Delayed speech and language development	7314	UBB	ORPHA:99772
HP:0000750	Delayed speech and language development	57822	GRHL3	ORPHA:99772
HP:0000750	Delayed speech and language development	7840	ALMS1	ORPHA:64
HP:0002118	Abnormal cerebral ventricle morphology	1718	DHCR24	OMIM:602398
HP:0002118	Abnormal cerebral ventricle morphology	1718	DHCR24	ORPHA:35107
HP:0002118	Abnormal cerebral ventricle morphology	29899	GPSM2	OMIM:604213
HP:0002118	Abnormal cerebral ventricle morphology	2218	FKTN	ORPHA:272
HP:0002118	Abnormal cerebral ventricle morphology	2218	FKTN	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	2218	FKTN	OMIM:236670
HP:0002118	Abnormal cerebral ventricle morphology	2218	FKTN	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	2218	FKTN	OMIM:253800
HP:0002118	Abnormal cerebral ventricle morphology	4524	MTHFR	ORPHA:395
HP:0002118	Abnormal cerebral ventricle morphology	51256	TBC1D7	OMIM:248000
HP:0002118	Abnormal cerebral ventricle morphology	8294	H4C9	OMIM:619951
HP:0002118	Abnormal cerebral ventricle morphology	6873	TAF2	OMIM:615599
HP:0002118	Abnormal cerebral ventricle morphology	6873	TAF2	ORPHA:397951
HP:0002118	Abnormal cerebral ventricle morphology	4897	NRCAM	OMIM:619833
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	ORPHA:53271
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	ORPHA:1860
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	OMIM:616482
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	ORPHA:15
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	ORPHA:93274
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	ORPHA:93262
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	OMIM:100800
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	OMIM:187600
HP:0002118	Abnormal cerebral ventricle morphology	2261	FGFR3	OMIM:612247
HP:0002118	Abnormal cerebral ventricle morphology	2737	GLI3	ORPHA:380
HP:0002118	Abnormal cerebral ventricle morphology	2737	GLI3	OMIM:175700
HP:0002118	Abnormal cerebral ventricle morphology	1630	DCC	OMIM:617542
HP:0002118	Abnormal cerebral ventricle morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002118	Abnormal cerebral ventricle morphology	23322	RPGRIP1L	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002118	Abnormal cerebral ventricle morphology	4867	NPHP1	ORPHA:220497
HP:0002118	Abnormal cerebral ventricle morphology	65062	TMEM237	ORPHA:220497
HP:0002118	Abnormal cerebral ventricle morphology	65062	TMEM237	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	65062	TMEM237	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	65062	TMEM237	OMIM:614424
HP:0002118	Abnormal cerebral ventricle morphology	65062	TMEM237	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	23426	GRIP1	OMIM:617667
HP:0002118	Abnormal cerebral ventricle morphology	2670	GFAP	OMIM:203450
HP:0002118	Abnormal cerebral ventricle morphology	2670	GFAP	ORPHA:363717
HP:0002118	Abnormal cerebral ventricle morphology	54806	AHI1	ORPHA:220493
HP:0002118	Abnormal cerebral ventricle morphology	54806	AHI1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	56623	INPP5E	ORPHA:220493
HP:0002118	Abnormal cerebral ventricle morphology	56623	INPP5E	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	56623	INPP5E	ORPHA:1454
HP:0002118	Abnormal cerebral ventricle morphology	153241	CEP120	ORPHA:220493
HP:0002118	Abnormal cerebral ventricle morphology	153241	CEP120	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	54903	MKS1	ORPHA:220493
HP:0002118	Abnormal cerebral ventricle morphology	54903	MKS1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	54903	MKS1	OMIM:249000
HP:0002118	Abnormal cerebral ventricle morphology	54903	MKS1	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	95681	CEP41	ORPHA:220493
HP:0002118	Abnormal cerebral ventricle morphology	95681	CEP41	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	5728	PTEN	ORPHA:2969
HP:0002118	Abnormal cerebral ventricle morphology	5728	PTEN	ORPHA:65285
HP:0002118	Abnormal cerebral ventricle morphology	84197	POMK	OMIM:615249
HP:0002118	Abnormal cerebral ventricle morphology	84197	POMK	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	84197	POMK	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	55650	PIGV	OMIM:239300
HP:0002118	Abnormal cerebral ventricle morphology	65082	VPS33A	ORPHA:505248
HP:0002118	Abnormal cerebral ventricle morphology	284058	KANSL1	ORPHA:363958
HP:0002118	Abnormal cerebral ventricle morphology	284058	KANSL1	ORPHA:363965
HP:0002118	Abnormal cerebral ventricle morphology	4853	NOTCH2	OMIM:102500
HP:0002118	Abnormal cerebral ventricle morphology	4853	NOTCH2	ORPHA:955
HP:0002118	Abnormal cerebral ventricle morphology	9968	MED12	ORPHA:93932
HP:0002118	Abnormal cerebral ventricle morphology	9968	MED12	OMIM:305450
HP:0002118	Abnormal cerebral ventricle morphology	9326	ZNHIT3	ORPHA:2836
HP:0002118	Abnormal cerebral ventricle morphology	547	KIF1A	ORPHA:2836
HP:0002118	Abnormal cerebral ventricle morphology	3339	HSPG2	ORPHA:1865
HP:0002118	Abnormal cerebral ventricle morphology	9401	RECQL4	OMIM:218600
HP:0002118	Abnormal cerebral ventricle morphology	4763	NF1	ORPHA:363700
HP:0002118	Abnormal cerebral ventricle morphology	4763	NF1	OMIM:162200
HP:0002118	Abnormal cerebral ventricle morphology	5528	PPP2R5D	OMIM:616355
HP:0002118	Abnormal cerebral ventricle morphology	8036	SHOC2	ORPHA:2701
HP:0002118	Abnormal cerebral ventricle morphology	5500	PPP1CB	ORPHA:2701
HP:0002118	Abnormal cerebral ventricle morphology	28514	DLL1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	28514	DLL1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	28514	DLL1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	28514	DLL1	OMIM:618709
HP:0002118	Abnormal cerebral ventricle morphology	28514	DLL1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	2253	FGF8	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	2253	FGF8	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	2253	FGF8	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	2253	FGF8	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	6496	SIX3	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	6496	SIX3	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	6496	SIX3	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	6496	SIX3	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	7050	TGIF1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	7050	TGIF1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	7050	TGIF1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	7050	TGIF1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	4838	NODAL	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	4838	NODAL	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	4838	NODAL	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	4838	NODAL	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	6469	SHH	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	6469	SHH	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	6469	SHH	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	6469	SHH	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	7546	ZIC2	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	7546	ZIC2	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	7546	ZIC2	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	7546	ZIC2	OMIM:609637
HP:0002118	Abnormal cerebral ventricle morphology	7546	ZIC2	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	6491	STIL	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	6491	STIL	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	6491	STIL	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	6491	STIL	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	2619	GAS1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	2619	GAS1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	2619	GAS1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	2619	GAS1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	84976	DISP1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	84976	DISP1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	84976	DISP1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	84976	DISP1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	2736	GLI2	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	2736	GLI2	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	2736	GLI2	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	2736	GLI2	OMIM:610829
HP:0002118	Abnormal cerebral ventricle morphology	2736	GLI2	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	8928	FOXH1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	8928	FOXH1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	8928	FOXH1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	8928	FOXH1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	OMIM:610828
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:377
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	OMIM:109400
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:77301
HP:0002118	Abnormal cerebral ventricle morphology	5727	PTCH1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	50937	CDON	ORPHA:93926
HP:0002118	Abnormal cerebral ventricle morphology	50937	CDON	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	50937	CDON	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	50937	CDON	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	2260	FGFR1	ORPHA:93924
HP:0002118	Abnormal cerebral ventricle morphology	2260	FGFR1	OMIM:101600
HP:0002118	Abnormal cerebral ventricle morphology	2260	FGFR1	OMIM:613001
HP:0002118	Abnormal cerebral ventricle morphology	2260	FGFR1	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	23007	PLCH1	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	23007	PLCH1	OMIM:619895
HP:0002118	Abnormal cerebral ventricle morphology	10735	STAG2	ORPHA:93925
HP:0002118	Abnormal cerebral ventricle morphology	10735	STAG2	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	3039	HBA1	ORPHA:163596
HP:0002118	Abnormal cerebral ventricle morphology	3040	HBA2	ORPHA:163596
HP:0002118	Abnormal cerebral ventricle morphology	63901	FAM111A	OMIM:602361
HP:0002118	Abnormal cerebral ventricle morphology	2316	FLNA	ORPHA:90652
HP:0002118	Abnormal cerebral ventricle morphology	2316	FLNA	OMIM:304120
HP:0002118	Abnormal cerebral ventricle morphology	1499	CTNNB1	ORPHA:54595
HP:0002118	Abnormal cerebral ventricle morphology	673	BRAF	ORPHA:54595
HP:0002118	Abnormal cerebral ventricle morphology	673	BRAF	OMIM:115150
HP:0002118	Abnormal cerebral ventricle morphology	673	BRAF	ORPHA:1340
HP:0002118	Abnormal cerebral ventricle morphology	79600	TCTN1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	79600	TCTN1	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	51684	SUFU	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	51684	SUFU	ORPHA:377
HP:0002118	Abnormal cerebral ventricle morphology	51684	SUFU	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	65250	CPLANE1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	91147	TMEM67	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	91147	TMEM67	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	91147	TMEM67	OMIM:607361
HP:0002118	Abnormal cerebral ventricle morphology	91147	TMEM67	ORPHA:1454
HP:0002118	Abnormal cerebral ventricle morphology	200894	ARL13B	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	9731	CEP104	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	219844	HYLS1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	219844	HYLS1	ORPHA:2189
HP:0002118	Abnormal cerebral ventricle morphology	23247	KATNIP	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	219854	TMEM218	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	79867	TCTN2	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	79867	TCTN2	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	80776	B9D2	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	80776	B9D2	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	10464	PIBF1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	80210	ARMC9	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	23116	TOGARAM1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	25776	CBY1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	27077	B9D1	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	27077	B9D1	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	403	ARL3	ORPHA:475
HP:0002118	Abnormal cerebral ventricle morphology	3981	LIG4	ORPHA:235
HP:0002118	Abnormal cerebral ventricle morphology	54888	NSUN2	ORPHA:235
HP:0002118	Abnormal cerebral ventricle morphology	5518	PPP2R1A	OMIM:616362
HP:0002118	Abnormal cerebral ventricle morphology	5518	PPP2R1A	ORPHA:457284
HP:0002118	Abnormal cerebral ventricle morphology	7157	TP53	ORPHA:2807
HP:0002118	Abnormal cerebral ventricle morphology	7157	TP53	OMIM:260500
HP:0002118	Abnormal cerebral ventricle morphology	5034	P4HB	OMIM:112240
HP:0002118	Abnormal cerebral ventricle morphology	55621	TRMT1	OMIM:618302
HP:0002118	Abnormal cerebral ventricle morphology	1182	CLCN3	OMIM:619512
HP:0002118	Abnormal cerebral ventricle morphology	1349	COX7B	OMIM:309801
HP:0002118	Abnormal cerebral ventricle morphology	1349	COX7B	ORPHA:2556
HP:0002118	Abnormal cerebral ventricle morphology	3052	HCCS	OMIM:309801
HP:0002118	Abnormal cerebral ventricle morphology	3052	HCCS	ORPHA:2556
HP:0002118	Abnormal cerebral ventricle morphology	54539	NDUFB11	OMIM:309801
HP:0002118	Abnormal cerebral ventricle morphology	54539	NDUFB11	ORPHA:2556
HP:0002118	Abnormal cerebral ventricle morphology	55699	IARS2	OMIM:616007
HP:0002118	Abnormal cerebral ventricle morphology	148789	B3GALNT2	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	148789	B3GALNT2	OMIM:615181
HP:0002118	Abnormal cerebral ventricle morphology	148789	B3GALNT2	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	29925	GMPPB	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	29925	GMPPB	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	79147	FKRP	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	79147	FKRP	OMIM:236670
HP:0002118	Abnormal cerebral ventricle morphology	79147	FKRP	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	79147	FKRP	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	79147	FKRP	OMIM:613153
HP:0002118	Abnormal cerebral ventricle morphology	29954	POMT2	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	29954	POMT2	OMIM:236670
HP:0002118	Abnormal cerebral ventricle morphology	29954	POMT2	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	29954	POMT2	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	29954	POMT2	OMIM:613150
HP:0002118	Abnormal cerebral ventricle morphology	55624	POMGNT1	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	55624	POMGNT1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	55624	POMGNT1	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	55624	POMGNT1	OMIM:253280
HP:0002118	Abnormal cerebral ventricle morphology	10585	POMT1	ORPHA:588
HP:0002118	Abnormal cerebral ventricle morphology	10585	POMT1	OMIM:236670
HP:0002118	Abnormal cerebral ventricle morphology	10585	POMT1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	10585	POMT1	ORPHA:370959
HP:0002118	Abnormal cerebral ventricle morphology	10585	POMT1	OMIM:613155
HP:0002118	Abnormal cerebral ventricle morphology	285362	SUMF1	OMIM:272200
HP:0002118	Abnormal cerebral ventricle morphology	285362	SUMF1	ORPHA:585
HP:0002118	Abnormal cerebral ventricle morphology	2187	FANCB	OMIM:314390
HP:0002118	Abnormal cerebral ventricle morphology	2187	FANCB	OMIM:300514
HP:0002118	Abnormal cerebral ventricle morphology	2187	FANCB	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2187	FANCB	ORPHA:3412
HP:0002118	Abnormal cerebral ventricle morphology	7547	ZIC3	OMIM:314390
HP:0002118	Abnormal cerebral ventricle morphology	7547	ZIC3	OMIM:306955
HP:0002118	Abnormal cerebral ventricle morphology	30813	VSX1	OMIM:614195
HP:0002118	Abnormal cerebral ventricle morphology	11041	B4GAT1	OMIM:615287
HP:0002118	Abnormal cerebral ventricle morphology	11041	B4GAT1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	OMIM:123790
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	OMIM:101200
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	OMIM:123500
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	ORPHA:207
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	OMIM:101600
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	ORPHA:87
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	ORPHA:93259
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	OMIM:207410
HP:0002118	Abnormal cerebral ventricle morphology	2263	FGFR2	ORPHA:1555
HP:0002118	Abnormal cerebral ventricle morphology	2683	B4GALT1	ORPHA:79332
HP:0002118	Abnormal cerebral ventricle morphology	2683	B4GALT1	OMIM:607091
HP:0002118	Abnormal cerebral ventricle morphology	8643	PTCH2	ORPHA:377
HP:0002118	Abnormal cerebral ventricle morphology	54941	RNF125	OMIM:616260
HP:0002118	Abnormal cerebral ventricle morphology	55120	FANCL	OMIM:614083
HP:0002118	Abnormal cerebral ventricle morphology	55120	FANCL	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	79989	IFT56	OMIM:619534
HP:0002118	Abnormal cerebral ventricle morphology	3423	IDS	OMIM:309900
HP:0002118	Abnormal cerebral ventricle morphology	284111	SLC13A5	ORPHA:1946
HP:0002118	Abnormal cerebral ventricle morphology	79641	ROGDI	ORPHA:1946
HP:0002118	Abnormal cerebral ventricle morphology	286204	CRB2	OMIM:219730
HP:0002118	Abnormal cerebral ventricle morphology	25981	DNAH1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	115948	ODAD3	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	54768	HYDIN	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	352909	DNAAF3	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	27148	STK36	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	51314	NME8	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	92749	DRC1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	54970	TTC12	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	152110	NEK10	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	8481	OFD1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	8481	OFD1	OMIM:311200
HP:0002118	Abnormal cerebral ventricle morphology	2302	FOXJ1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	221421	RSPH9	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	85478	CCDC65	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	55036	CCDC40	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	51364	ZMYND10	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	64446	DNAI2	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	6674	SPAG1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	83544	DNAL1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	89765	RSPH1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	83538	ODAD4	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	200373	CFAP221	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	374407	DNAJB13	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	55172	DNAAF2	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	161582	DNAAF4	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	2622	GAS8	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	23639	DNAAF11	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	27019	DNAI1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	345895	RSPH4A	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	54919	DNAAF5	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	6103	RPGR	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	388389	CCDC103	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	93233	ODAD1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	55130	ODAD2	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	1767	DNAH5	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	83861	RSPH3	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	345643	MCIDAS	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	56683	CFAP298	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	79925	SPEF2	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	10309	CCNO	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	115399	LRRC56	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	139212	DNAAF6	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	123872	DNAAF1	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	85016	CFAP300	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	339829	CCDC39	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	8701	DNAH11	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	1770	DNAH9	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	246176	GAS2L2	ORPHA:244
HP:0002118	Abnormal cerebral ventricle morphology	81839	VANGL1	OMIM:600145
HP:0002118	Abnormal cerebral ventricle morphology	81839	VANGL1	OMIM:182940
HP:0002118	Abnormal cerebral ventricle morphology	3897	L1CAM	OMIM:304100
HP:0002118	Abnormal cerebral ventricle morphology	3897	L1CAM	OMIM:307000
HP:0002118	Abnormal cerebral ventricle morphology	3897	L1CAM	ORPHA:2182
HP:0002118	Abnormal cerebral ventricle morphology	3897	L1CAM	OMIM:303350
HP:0002118	Abnormal cerebral ventricle morphology	51645	PPIL1	OMIM:619301
HP:0002118	Abnormal cerebral ventricle morphology	51362	CDC40	OMIM:619302
HP:0002118	Abnormal cerebral ventricle morphology	5881	RAC3	OMIM:618577
HP:0002118	Abnormal cerebral ventricle morphology	5888	RAD51	OMIM:617244
HP:0002118	Abnormal cerebral ventricle morphology	5888	RAD51	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	7046	TGFBR1	OMIM:609192
HP:0002118	Abnormal cerebral ventricle morphology	8905	AP1S2	OMIM:304340
HP:0002118	Abnormal cerebral ventricle morphology	8905	AP1S2	ORPHA:85335
HP:0002118	Abnormal cerebral ventricle morphology	1801	DPH1	ORPHA:459061
HP:0002118	Abnormal cerebral ventricle morphology	3912	LAMB1	OMIM:615191
HP:0002118	Abnormal cerebral ventricle morphology	3912	LAMB1	ORPHA:352682
HP:0002118	Abnormal cerebral ventricle morphology	51422	PRKAG2	OMIM:261740
HP:0002118	Abnormal cerebral ventricle morphology	51259	TMEM216	OMIM:608091
HP:0002118	Abnormal cerebral ventricle morphology	51259	TMEM216	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	51259	TMEM216	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	57216	VANGL2	OMIM:182940
HP:0002118	Abnormal cerebral ventricle morphology	6347	CCL2	OMIM:182940
HP:0002118	Abnormal cerebral ventricle morphology	6862	TBXT	OMIM:182940
HP:0002118	Abnormal cerebral ventricle morphology	80199	FUZ	OMIM:182940
HP:0002118	Abnormal cerebral ventricle morphology	80199	FUZ	ORPHA:1136
HP:0002118	Abnormal cerebral ventricle morphology	10312	TCIRG1	ORPHA:667
HP:0002118	Abnormal cerebral ventricle morphology	10312	TCIRG1	OMIM:259700
HP:0002118	Abnormal cerebral ventricle morphology	1186	CLCN7	ORPHA:667
HP:0002118	Abnormal cerebral ventricle morphology	1186	CLCN7	ORPHA:53
HP:0002118	Abnormal cerebral ventricle morphology	29887	SNX10	ORPHA:667
HP:0002118	Abnormal cerebral ventricle morphology	8600	TNFSF11	ORPHA:667
HP:0002118	Abnormal cerebral ventricle morphology	8600	TNFSF11	OMIM:259710
HP:0002118	Abnormal cerebral ventricle morphology	128869	PIGU	OMIM:618590
HP:0002118	Abnormal cerebral ventricle morphology	4967	OGDH	ORPHA:31
HP:0002118	Abnormal cerebral ventricle morphology	6299	SALL1	OMIM:107480
HP:0002118	Abnormal cerebral ventricle morphology	1193	CLIC2	OMIM:300886
HP:0002118	Abnormal cerebral ventricle morphology	1436	CSF1R	OMIM:618476
HP:0002118	Abnormal cerebral ventricle morphology	9871	SEC24D	OMIM:616294
HP:0002118	Abnormal cerebral ventricle morphology	79868	ALG13	OMIM:300884
HP:0002118	Abnormal cerebral ventricle morphology	8882	ZPR1	OMIM:619321
HP:0002118	Abnormal cerebral ventricle morphology	84892	POMGNT2	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	84892	POMGNT2	OMIM:614830
HP:0002118	Abnormal cerebral ventricle morphology	1282	COL4A1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	1282	COL4A1	OMIM:175780
HP:0002118	Abnormal cerebral ventricle morphology	729920	CRPPA	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	729920	CRPPA	OMIM:614643
HP:0002118	Abnormal cerebral ventricle morphology	10329	RXYLT1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	1605	DAG1	ORPHA:899
HP:0002118	Abnormal cerebral ventricle morphology	1605	DAG1	OMIM:616538
HP:0002118	Abnormal cerebral ventricle morphology	79068	FTO	OMIM:612938
HP:0002118	Abnormal cerebral ventricle morphology	56975	FAM20C	OMIM:259775
HP:0002118	Abnormal cerebral ventricle morphology	4784	NFIX	OMIM:602535
HP:0002118	Abnormal cerebral ventricle morphology	340665	CYP26C1	ORPHA:398189
HP:0002118	Abnormal cerebral ventricle morphology	5831	PYCR1	OMIM:612940
HP:0002118	Abnormal cerebral ventricle morphology	2077	ERF	ORPHA:207
HP:0002118	Abnormal cerebral ventricle morphology	1312	COMT	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	221037	JMJD1C	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	2812	GP1BB	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	6239	RREB1	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	6899	TBX1	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	7290	HIRA	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	9632	SEC24C	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	7353	UFD1	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	421	ARVCF	ORPHA:567
HP:0002118	Abnormal cerebral ventricle morphology	84314	TMEM107	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	26123	TCTN3	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	57096	RPGRIP1	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	80184	CEP290	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	80184	CEP290	OMIM:611134
HP:0002118	Abnormal cerebral ventricle morphology	80184	CEP290	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	57545	CC2D2A	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	57545	CC2D2A	OMIM:619111
HP:0002118	Abnormal cerebral ventricle morphology	57545	CC2D2A	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	57545	CC2D2A	ORPHA:1454
HP:0002118	Abnormal cerebral ventricle morphology	57545	CC2D2A	OMIM:612284
HP:0002118	Abnormal cerebral ventricle morphology	79583	TMEM231	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	79583	TMEM231	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	79770	TXNDC15	ORPHA:564
HP:0002118	Abnormal cerebral ventricle morphology	23258	DENND5A	OMIM:617281
HP:0002118	Abnormal cerebral ventricle morphology	10013	HDAC6	OMIM:300863
HP:0002118	Abnormal cerebral ventricle morphology	10013	HDAC6	ORPHA:163966
HP:0002118	Abnormal cerebral ventricle morphology	2009	EML1	OMIM:600348
HP:0002118	Abnormal cerebral ventricle morphology	5573	PRKAR1A	OMIM:101800
HP:0002118	Abnormal cerebral ventricle morphology	84065	TMEM222	OMIM:619470
HP:0002118	Abnormal cerebral ventricle morphology	54809	SAMD9	OMIM:617053
HP:0002118	Abnormal cerebral ventricle morphology	145173	B3GLCT	OMIM:261540
HP:0002118	Abnormal cerebral ventricle morphology	145173	B3GLCT	ORPHA:709
HP:0002118	Abnormal cerebral ventricle morphology	6711	SPTBN1	OMIM:619475
HP:0002118	Abnormal cerebral ventricle morphology	6608	SMO	OMIM:241800
HP:0002118	Abnormal cerebral ventricle morphology	6608	SMO	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	4157	MC1R	ORPHA:626
HP:0002118	Abnormal cerebral ventricle morphology	4893	NRAS	ORPHA:626
HP:0002118	Abnormal cerebral ventricle morphology	4893	NRAS	OMIM:249400
HP:0002118	Abnormal cerebral ventricle morphology	4534	MTM1	OMIM:310400
HP:0002118	Abnormal cerebral ventricle morphology	10682	EBP	OMIM:300960
HP:0002118	Abnormal cerebral ventricle morphology	10682	EBP	ORPHA:401973
HP:0002118	Abnormal cerebral ventricle morphology	5290	PIK3CA	OMIM:602501
HP:0002118	Abnormal cerebral ventricle morphology	5290	PIK3CA	ORPHA:60040
HP:0002118	Abnormal cerebral ventricle morphology	5290	PIK3CA	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	55640	FLVCR2	OMIM:225790
HP:0002118	Abnormal cerebral ventricle morphology	3516	RBPJ	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	4851	NOTCH1	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	57514	ARHGAP31	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	57572	DOCK6	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	57572	DOCK6	OMIM:614219
HP:0002118	Abnormal cerebral ventricle morphology	285203	EOGT	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	54567	DLL4	ORPHA:974
HP:0002118	Abnormal cerebral ventricle morphology	23387	SIK3	OMIM:618162
HP:0002118	Abnormal cerebral ventricle morphology	2177	FANCD2	OMIM:227646
HP:0002118	Abnormal cerebral ventricle morphology	2177	FANCD2	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	26137	ZBTB20	ORPHA:3042
HP:0002118	Abnormal cerebral ventricle morphology	55898	UNC45A	OMIM:619377
HP:0002118	Abnormal cerebral ventricle morphology	2629	GBA1	ORPHA:2072
HP:0002118	Abnormal cerebral ventricle morphology	2629	GBA1	OMIM:231005
HP:0002118	Abnormal cerebral ventricle morphology	51360	MBTPS2	ORPHA:85284
HP:0002118	Abnormal cerebral ventricle morphology	1376	CPT2	ORPHA:228308
HP:0002118	Abnormal cerebral ventricle morphology	9897	WASHC5	ORPHA:7
HP:0002118	Abnormal cerebral ventricle morphology	9897	WASHC5	OMIM:220210
HP:0002118	Abnormal cerebral ventricle morphology	28952	CCDC22	ORPHA:7
HP:0002118	Abnormal cerebral ventricle morphology	6913	TBX15	OMIM:260660
HP:0002118	Abnormal cerebral ventricle morphology	1496	CTNNA2	OMIM:618174
HP:0002118	Abnormal cerebral ventricle morphology	55315	SLC29A3	ORPHA:168569
HP:0002118	Abnormal cerebral ventricle morphology	374654	KIF7	ORPHA:2189
HP:0002118	Abnormal cerebral ventricle morphology	374654	KIF7	OMIM:614120
HP:0002118	Abnormal cerebral ventricle morphology	10535	RNASEH2A	OMIM:610333
HP:0002118	Abnormal cerebral ventricle morphology	4771	NF2	ORPHA:637
HP:0002118	Abnormal cerebral ventricle morphology	4771	NF2	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	8085	KMT2D	OMIM:147920
HP:0002118	Abnormal cerebral ventricle morphology	8085	KMT2D	ORPHA:2322
HP:0002118	Abnormal cerebral ventricle morphology	7403	KDM6A	OMIM:147920
HP:0002118	Abnormal cerebral ventricle morphology	7403	KDM6A	ORPHA:2322
HP:0002118	Abnormal cerebral ventricle morphology	10262	SF3B4	OMIM:154400
HP:0002118	Abnormal cerebral ventricle morphology	894	CCND2	ORPHA:83473
HP:0002118	Abnormal cerebral ventricle morphology	894	CCND2	OMIM:615938
HP:0002118	Abnormal cerebral ventricle morphology	5296	PIK3R2	ORPHA:83473
HP:0002118	Abnormal cerebral ventricle morphology	5296	PIK3R2	OMIM:603387
HP:0002118	Abnormal cerebral ventricle morphology	10000	AKT3	ORPHA:83473
HP:0002118	Abnormal cerebral ventricle morphology	10000	AKT3	OMIM:615937
HP:0002118	Abnormal cerebral ventricle morphology	10992	SF3B2	OMIM:164210
HP:0002118	Abnormal cerebral ventricle morphology	80144	FRAS1	OMIM:219000
HP:0002118	Abnormal cerebral ventricle morphology	5447	POR	ORPHA:95699
HP:0002118	Abnormal cerebral ventricle morphology	5447	POR	OMIM:207410
HP:0002118	Abnormal cerebral ventricle morphology	501	ALDH7A1	OMIM:266100
HP:0002118	Abnormal cerebral ventricle morphology	4552	MTRR	ORPHA:2169
HP:0002118	Abnormal cerebral ventricle morphology	22858	CILK1	OMIM:612651
HP:0002118	Abnormal cerebral ventricle morphology	6662	SOX9	OMIM:114290
HP:0002118	Abnormal cerebral ventricle morphology	29072	SETD2	OMIM:620157
HP:0002118	Abnormal cerebral ventricle morphology	29072	SETD2	OMIM:620155
HP:0002118	Abnormal cerebral ventricle morphology	26153	KIF26A	OMIM:620156
HP:0002118	Abnormal cerebral ventricle morphology	8792	TNFRSF11A	OMIM:612301
HP:0002118	Abnormal cerebral ventricle morphology	114034	TOE1	OMIM:614969
HP:0002118	Abnormal cerebral ventricle morphology	672	BRCA1	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	10459	MAD2L2	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	7516	XRCC2	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	29089	UBE2T	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	675	BRCA2	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2175	FANCA	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2176	FANCC	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2178	FANCE	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2188	FANCF	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2189	FANCG	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	5889	RAD51C	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	55159	RFWD3	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	83990	BRIP1	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	57697	FANCM	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	79728	PALB2	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	84464	SLX4	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2072	ERCC4	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	2072	ERCC4	ORPHA:220295
HP:0002118	Abnormal cerebral ventricle morphology	55215	FANCI	ORPHA:84
HP:0002118	Abnormal cerebral ventricle morphology	5340	PLG	ORPHA:722
HP:0002118	Abnormal cerebral ventricle morphology	5340	PLG	OMIM:217090
HP:0002118	Abnormal cerebral ventricle morphology	1717	DHCR7	OMIM:270400
HP:0002118	Abnormal cerebral ventricle morphology	9896	FIG4	ORPHA:3472
HP:0002118	Abnormal cerebral ventricle morphology	55697	VAC14	ORPHA:3472
HP:0002118	Abnormal cerebral ventricle morphology	3425	IDUA	OMIM:607014
HP:0002118	Abnormal cerebral ventricle morphology	3425	IDUA	ORPHA:93473
HP:0002118	Abnormal cerebral ventricle morphology	53834	FGFRL1	OMIM:194190
HP:0002118	Abnormal cerebral ventricle morphology	1487	CTBP1	OMIM:194190
HP:0002118	Abnormal cerebral ventricle morphology	3954	LETM1	OMIM:194190
HP:0002118	Abnormal cerebral ventricle morphology	7468	NSD2	OMIM:194190
HP:0002118	Abnormal cerebral ventricle morphology	10815	CPLX1	OMIM:194190
HP:0002118	Abnormal cerebral ventricle morphology	3265	HRAS	OMIM:218040
HP:0002118	Abnormal cerebral ventricle morphology	2200	FBN1	OMIM:616914
HP:0002118	Abnormal cerebral ventricle morphology	3192	HNRNPU	ORPHA:238769
HP:0002118	Abnormal cerebral ventricle morphology	4593	MUSK	OMIM:208150
HP:0002118	Abnormal cerebral ventricle morphology	5063	PAK3	OMIM:300558
HP:0002118	Abnormal cerebral ventricle morphology	64327	LMBR1	ORPHA:2378
HP:0002118	Abnormal cerebral ventricle morphology	4519	MT-CYB	ORPHA:137675
HP:0002118	Abnormal cerebral ventricle morphology	8314	BAP1	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	6598	SMARCB1	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	6598	SMARCB1	ORPHA:99966
HP:0002118	Abnormal cerebral ventricle morphology	5155	PDGFB	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	84231	TRAF7	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	207	AKT1	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	7015	TERT	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	6605	SMARCE1	ORPHA:2495
HP:0002118	Abnormal cerebral ventricle morphology	11128	POLR3A	OMIM:264090
HP:0002118	Abnormal cerebral ventricle morphology	11128	POLR3A	ORPHA:3455
HP:0002118	Abnormal cerebral ventricle morphology	4094	MAF	ORPHA:1272
HP:0002118	Abnormal cerebral ventricle morphology	2050	EPHB4	ORPHA:137667
HP:0002118	Abnormal cerebral ventricle morphology	5921	RASA1	ORPHA:137667
HP:0002118	Abnormal cerebral ventricle morphology	3662	IRF4	ORPHA:3452
HP:0002118	Abnormal cerebral ventricle morphology	440193	CCDC88C	OMIM:236600
HP:0002118	Abnormal cerebral ventricle morphology	7048	TGFBR2	OMIM:610168
HP:0002118	Abnormal cerebral ventricle morphology	5824	PEX19	OMIM:614886
HP:0002118	Abnormal cerebral ventricle morphology	701	BUB1B	OMIM:257300
HP:0002118	Abnormal cerebral ventricle morphology	2776	GNAQ	ORPHA:3205
HP:0002118	Abnormal cerebral ventricle morphology	28962	OSTM1	OMIM:259720
HP:0002118	Abnormal cerebral ventricle morphology	157570	ESCO2	OMIM:268300
HP:0002118	Abnormal cerebral ventricle morphology	2581	GALC	OMIM:245200
HP:0002118	Abnormal cerebral ventricle morphology	84667	HES7	OMIM:613686
HP:0002118	Abnormal cerebral ventricle morphology	51134	CEP83	OMIM:615862
HP:0002118	Abnormal cerebral ventricle morphology	2719	GPC3	OMIM:312870
HP:0002118	Abnormal cerebral ventricle morphology	2239	GPC4	OMIM:312870
HP:0002118	Abnormal cerebral ventricle morphology	63895	PIEZO2	ORPHA:2461
HP:0002118	Abnormal cerebral ventricle morphology	9927	MFN2	ORPHA:99947
HP:0002118	Abnormal cerebral ventricle morphology	579	NKX3-2	OMIM:613330
HP:0002118	Abnormal cerebral ventricle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002118	Abnormal cerebral ventricle morphology	26160	IFT172	OMIM:615630
HP:0002118	Abnormal cerebral ventricle morphology	7473	WNT3	ORPHA:3301
HP:0002118	Abnormal cerebral ventricle morphology	7473	WNT3	OMIM:273395
HP:0002118	Abnormal cerebral ventricle morphology	340419	RSPO2	ORPHA:3301
HP:0002118	Abnormal cerebral ventricle morphology	411	ARSB	OMIM:253200
HP:0002118	Abnormal cerebral ventricle morphology	4854	NOTCH3	OMIM:130720
HP:0002118	Abnormal cerebral ventricle morphology	84162	BLTP1	OMIM:617822
HP:0002118	Abnormal cerebral ventricle morphology	6657	SOX2	ORPHA:77298
HP:0002118	Abnormal cerebral ventricle morphology	5604	MAP2K1	ORPHA:1340
HP:0002118	Abnormal cerebral ventricle morphology	5605	MAP2K2	ORPHA:1340
HP:0002118	Abnormal cerebral ventricle morphology	3845	KRAS	ORPHA:1340
HP:0002118	Abnormal cerebral ventricle morphology	1063	CENPF	OMIM:243605
HP:0002118	Abnormal cerebral ventricle morphology	51524	TMEM138	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	23090	ZNF423	ORPHA:2318
HP:0002118	Abnormal cerebral ventricle morphology	64093	SMOC1	ORPHA:1106
HP:0002118	Abnormal cerebral ventricle morphology	57511	COG6	OMIM:614576
HP:0002118	Abnormal cerebral ventricle morphology	124997	WDR81	OMIM:617967
HP:0002118	Abnormal cerebral ventricle morphology	80781	COL18A1	ORPHA:1571
HP:0002118	Abnormal cerebral ventricle morphology	5062	PAK2	ORPHA:1571
HP:0002118	Abnormal cerebral ventricle morphology	4758	NEU1	ORPHA:93400
HP:0002118	Abnormal cerebral ventricle morphology	64840	PORCN	OMIM:305600
HP:0002118	Abnormal cerebral ventricle morphology	9791	PTDSS1	ORPHA:2658
HP:0002118	Abnormal cerebral ventricle morphology	29957	SLC25A24	OMIM:612289
HP:0002118	Abnormal cerebral ventricle morphology	23040	MYT1L	OMIM:616521
HP:0002118	Abnormal cerebral ventricle morphology	7305	TYROBP	ORPHA:2770
HP:0002118	Abnormal cerebral ventricle morphology	54209	TREM2	ORPHA:2770
HP:0002118	Abnormal cerebral ventricle morphology	112752	IFT43	OMIM:617866
HP:0002118	Abnormal cerebral ventricle morphology	2068	ERCC2	ORPHA:220295
HP:0002118	Abnormal cerebral ventricle morphology	2073	ERCC5	ORPHA:220295
HP:0002118	Abnormal cerebral ventricle morphology	2071	ERCC3	ORPHA:220295
HP:0002118	Abnormal cerebral ventricle morphology	139285	AMER1	OMIM:300373
HP:0002118	Abnormal cerebral ventricle morphology	6497	SKI	OMIM:182212
HP:0002118	Abnormal cerebral ventricle morphology	126792	B3GALT6	ORPHA:536467
HP:0002118	Abnormal cerebral ventricle morphology	26503	SLC17A5	OMIM:269920
HP:0002118	Abnormal cerebral ventricle morphology	2990	GUSB	OMIM:253220
HP:0002118	Abnormal cerebral ventricle morphology	59341	TRPV4	ORPHA:2635
HP:0002118	Abnormal cerebral ventricle morphology	8243	SMC1A	ORPHA:220386
HP:0002118	Abnormal cerebral ventricle morphology	8777	MPDZ	OMIM:615219
HP:0002118	Abnormal cerebral ventricle morphology	25974	MMACHC	ORPHA:79282
HP:0002118	Abnormal cerebral ventricle morphology	25974	MMACHC	OMIM:277400
HP:0002118	Abnormal cerebral ventricle morphology	9469	CHST3	OMIM:245600
HP:0002118	Abnormal cerebral ventricle morphology	26229	B3GAT3	OMIM:245600
HP:0002118	Abnormal cerebral ventricle morphology	5052	PRDX1	OMIM:277400
HP:0002118	Abnormal cerebral ventricle morphology	56896	DPYSL5	OMIM:619435
HP:0002118	Abnormal cerebral ventricle morphology	23556	PIGN	ORPHA:2059
HP:0002118	Abnormal cerebral ventricle morphology	7355	SLC35A2	ORPHA:356961
HP:0002118	Abnormal cerebral ventricle morphology	7545	ZIC1	OMIM:616602
HP:0002118	Abnormal cerebral ventricle morphology	7545	ZIC1	OMIM:618736
HP:0002118	Abnormal cerebral ventricle morphology	84942	WDR73	OMIM:251300
HP:0002118	Abnormal cerebral ventricle morphology	57465	TBC1D24	OMIM:220500
HP:0002118	Abnormal cerebral ventricle morphology	57465	TBC1D24	ORPHA:79500
HP:0002118	Abnormal cerebral ventricle morphology	55112	DYNC2I1	ORPHA:93271
HP:0002118	Abnormal cerebral ventricle morphology	57560	IFT80	ORPHA:93271
HP:0002118	Abnormal cerebral ventricle morphology	57539	WDR35	ORPHA:93271
HP:0002118	Abnormal cerebral ventricle morphology	79659	DYNC2H1	ORPHA:93271
HP:0002118	Abnormal cerebral ventricle morphology	89891	DYNC2I2	ORPHA:93271
HP:0002118	Abnormal cerebral ventricle morphology	4081	MAB21L1	OMIM:618479
HP:0002118	Abnormal cerebral ventricle morphology	55636	CHD7	ORPHA:138
HP:0002118	Abnormal cerebral ventricle morphology	9723	SEMA3E	ORPHA:138
HP:0002118	Abnormal cerebral ventricle morphology	57492	ARID1B	OMIM:135900
HP:0002118	Abnormal cerebral ventricle morphology	57492	ARID1B	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	3899	AFF3	OMIM:619297
HP:0002118	Abnormal cerebral ventricle morphology	6597	SMARCA4	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	6597	SMARCA4	OMIM:614609
HP:0002118	Abnormal cerebral ventricle morphology	6659	SOX4	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	8289	ARID1A	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	8289	ARID1A	OMIM:614607
HP:0002118	Abnormal cerebral ventricle morphology	5977	DPF2	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	6601	SMARCC2	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	6602	SMARCD1	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	196528	ARID2	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	6664	SOX11	ORPHA:1465
HP:0002118	Abnormal cerebral ventricle morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002118	Abnormal cerebral ventricle morphology	23545	ATP6V0A2	OMIM:219200
HP:0002118	Abnormal cerebral ventricle morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002118	Abnormal cerebral ventricle morphology	27315	PGAP2	OMIM:614207
HP:0002118	Abnormal cerebral ventricle morphology	27031	NPHP3	OMIM:267010
HP:0002118	Abnormal cerebral ventricle morphology	27031	NPHP3	OMIM:208540
HP:0002118	Abnormal cerebral ventricle morphology	27031	NPHP3	ORPHA:3032
HP:0002118	Abnormal cerebral ventricle morphology	171023	ASXL1	ORPHA:97297
HP:0002118	Abnormal cerebral ventricle morphology	171023	ASXL1	OMIM:605039
HP:0002118	Abnormal cerebral ventricle morphology	9184	BUB3	ORPHA:1052
HP:0002118	Abnormal cerebral ventricle morphology	699	BUB1	ORPHA:1052
HP:0002118	Abnormal cerebral ventricle morphology	9702	CEP57	ORPHA:1052
HP:0002118	Abnormal cerebral ventricle morphology	9319	TRIP13	ORPHA:1052
HP:0002118	Abnormal cerebral ventricle morphology	84188	FAR1	ORPHA:438178
HP:0002118	Abnormal cerebral ventricle morphology	84188	FAR1	OMIM:616154
HP:0002118	Abnormal cerebral ventricle morphology	26227	PHGDH	OMIM:256520
HP:0002118	Abnormal cerebral ventricle morphology	10804	GJB6	ORPHA:477
HP:0002118	Abnormal cerebral ventricle morphology	2706	GJB2	ORPHA:477
HP:0002118	Abnormal cerebral ventricle morphology	4927	NUP88	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	7846	TUBA1A	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	4654	MYOD1	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	5913	RAPSN	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	6572	SLC18A3	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	285489	DOK7	ORPHA:994
HP:0002118	Abnormal cerebral ventricle morphology	7737	RNF113A	OMIM:300953
HP:0002118	Abnormal cerebral ventricle morphology	56006	SMG9	OMIM:616920
HP:0002118	Abnormal cerebral ventricle morphology	998	CDC42	ORPHA:487796
HP:0002118	Abnormal cerebral ventricle morphology	8239	USP9X	ORPHA:480880
HP:0002118	Abnormal cerebral ventricle morphology	8239	USP9X	OMIM:300968
HP:0002118	Abnormal cerebral ventricle morphology	526	ATP6V1B2	ORPHA:79500
HP:0002118	Abnormal cerebral ventricle morphology	54880	BCOR	OMIM:300166
HP:0002118	Abnormal cerebral ventricle morphology	203068	TUBB	OMIM:156610
HP:0002118	Abnormal cerebral ventricle morphology	54676	GTPBP2	OMIM:617988
HP:0002118	Abnormal cerebral ventricle morphology	5373	PMM2	ORPHA:79318
HP:0002118	Abnormal cerebral ventricle morphology	2121	EVC	OMIM:225500
HP:0002118	Abnormal cerebral ventricle morphology	132884	EVC2	OMIM:225500
HP:0002118	Abnormal cerebral ventricle morphology	523	ATP6V1A	ORPHA:357074
HP:0002118	Abnormal cerebral ventricle morphology	529	ATP6V1E1	ORPHA:357074
HP:0002118	Abnormal cerebral ventricle morphology	3798	KIF5A	OMIM:617235
HP:0002118	Abnormal cerebral ventricle morphology	1028	CDKN1C	OMIM:130650
HP:0002118	Abnormal cerebral ventricle morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002118	Abnormal cerebral ventricle morphology	3481	IGF2	OMIM:130650
HP:0002118	Abnormal cerebral ventricle morphology	3784	KCNQ1	OMIM:130650
HP:0002118	Abnormal cerebral ventricle morphology	738	VPS51	OMIM:618606
HP:0002118	Abnormal cerebral ventricle morphology	10195	ALG3	ORPHA:79321
HP:0002118	Abnormal cerebral ventricle morphology	4281	MID1	ORPHA:2745
HP:0002118	Abnormal cerebral ventricle morphology	51095	TRNT1	OMIM:616084
HP:0002118	Abnormal cerebral ventricle morphology	6513	SLC2A1	ORPHA:168577
HP:0002118	Abnormal cerebral ventricle morphology	4125	MAN2B1	ORPHA:309282
HP:0002118	Abnormal cerebral ventricle morphology	3070	HELLS	ORPHA:2268
HP:0002118	Abnormal cerebral ventricle morphology	1789	DNMT3B	ORPHA:2268
HP:0002118	Abnormal cerebral ventricle morphology	83879	CDCA7	ORPHA:2268
HP:0002118	Abnormal cerebral ventricle morphology	9841	ZBTB24	ORPHA:2268
HP:0002118	Abnormal cerebral ventricle morphology	2137	EXTL3	ORPHA:508533
HP:0002118	Abnormal cerebral ventricle morphology	7528	YY1	ORPHA:506358
HP:0002118	Abnormal cerebral ventricle morphology	23394	ADNP	ORPHA:404448
HP:0002118	Abnormal cerebral ventricle morphology	23394	ADNP	OMIM:615873
HP:0002118	Abnormal cerebral ventricle morphology	26235	FBXL4	OMIM:615471
HP:0002118	Abnormal cerebral ventricle morphology	4099	MAG	OMIM:616680
HP:0002118	Abnormal cerebral ventricle morphology	55823	VPS11	OMIM:616683
HP:0002118	Abnormal cerebral ventricle morphology	55823	VPS11	ORPHA:466934
HP:0002118	Abnormal cerebral ventricle morphology	2972	BRF1	OMIM:616202
HP:0002118	Abnormal cerebral ventricle morphology	2972	BRF1	ORPHA:444072
HP:0002118	Abnormal cerebral ventricle morphology	22800	RRAS2	OMIM:618624
HP:0002118	Abnormal cerebral ventricle morphology	3008	H1-4	OMIM:617537
HP:0002118	Abnormal cerebral ventricle morphology	2720	GLB1	OMIM:230600
HP:0002118	Abnormal cerebral ventricle morphology	2720	GLB1	OMIM:230650
HP:0002118	Abnormal cerebral ventricle morphology	1788	DNMT3A	ORPHA:404443
HP:0002118	Abnormal cerebral ventricle morphology	1788	DNMT3A	OMIM:615879
HP:0002118	Abnormal cerebral ventricle morphology	3020	H3-3A	OMIM:619720
HP:0002118	Abnormal cerebral ventricle morphology	10300	KATNB1	OMIM:616212
HP:0002118	Abnormal cerebral ventricle morphology	6536	SLC6A9	OMIM:617301
HP:0002118	Abnormal cerebral ventricle morphology	8722	CTSF	OMIM:615362
HP:0002118	Abnormal cerebral ventricle morphology	55790	CSGALNACT1	OMIM:618870
HP:0002118	Abnormal cerebral ventricle morphology	51111	KMT5B	OMIM:617788
HP:0002118	Abnormal cerebral ventricle morphology	478	ATP1A3	OMIM:619606
HP:0002118	Abnormal cerebral ventricle morphology	10730	YME1L1	OMIM:617302
HP:0002118	Abnormal cerebral ventricle morphology	84520	GON7	OMIM:619603
HP:0002118	Abnormal cerebral ventricle morphology	51112	TRAPPC12	OMIM:617669
HP:0002118	Abnormal cerebral ventricle morphology	51112	TRAPPC12	ORPHA:500144
HP:0002118	Abnormal cerebral ventricle morphology	55768	NGLY1	ORPHA:404454
HP:0002118	Abnormal cerebral ventricle morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0002118	Abnormal cerebral ventricle morphology	137492	VPS37A	ORPHA:319199
HP:0002118	Abnormal cerebral ventricle morphology	9289	ADGRG1	OMIM:606854
HP:0002118	Abnormal cerebral ventricle morphology	9289	ADGRG1	ORPHA:101070
HP:0002118	Abnormal cerebral ventricle morphology	23250	ATP11A	OMIM:619851
HP:0002118	Abnormal cerebral ventricle morphology	3190	HNRNPK	OMIM:616580
HP:0002118	Abnormal cerebral ventricle morphology	113189	CHST14	ORPHA:2953
HP:0002118	Abnormal cerebral ventricle morphology	113189	CHST14	OMIM:601776
HP:0002118	Abnormal cerebral ventricle morphology	29940	DSE	ORPHA:2953
HP:0002118	Abnormal cerebral ventricle morphology	9213	XPR1	ORPHA:1980
HP:0002118	Abnormal cerebral ventricle morphology	5159	PDGFRB	ORPHA:1980
HP:0002118	Abnormal cerebral ventricle morphology	57462	MYORG	ORPHA:1980
HP:0002118	Abnormal cerebral ventricle morphology	6575	SLC20A2	ORPHA:1980
HP:0002118	Abnormal cerebral ventricle morphology	58494	JAM2	ORPHA:1980
HP:0002118	Abnormal cerebral ventricle morphology	1183	CLCN4	ORPHA:485350
HP:0002118	Abnormal cerebral ventricle morphology	83480	PUS3	ORPHA:488627
HP:0002118	Abnormal cerebral ventricle morphology	83480	PUS3	OMIM:617051
HP:0002118	Abnormal cerebral ventricle morphology	652	BMP4	OMIM:607932
HP:0002118	Abnormal cerebral ventricle morphology	22872	SEC31A	OMIM:618651
HP:0002118	Abnormal cerebral ventricle morphology	5442	POLRMT	OMIM:619743
HP:0002118	Abnormal cerebral ventricle morphology	57178	ZMIZ1	OMIM:618659
HP:0002118	Abnormal cerebral ventricle morphology	3340	NDST1	OMIM:616116
HP:0002118	Abnormal cerebral ventricle morphology	93627	TBCK	ORPHA:488632
HP:0002118	Abnormal cerebral ventricle morphology	93627	TBCK	OMIM:616900
HP:0002118	Abnormal cerebral ventricle morphology	2783	GNB2	OMIM:619503
HP:0002118	Abnormal cerebral ventricle morphology	26040	SETBP1	OMIM:269150
HP:0002118	Abnormal cerebral ventricle morphology	26040	SETBP1	ORPHA:798
HP:0002118	Abnormal cerebral ventricle morphology	54	ACP5	ORPHA:1855
HP:0002118	Abnormal cerebral ventricle morphology	10717	AP4B1	OMIM:614066
HP:0002118	Abnormal cerebral ventricle morphology	6905	TBCE	OMIM:241410
HP:0002118	Abnormal cerebral ventricle morphology	6905	TBCE	ORPHA:2323
HP:0002118	Abnormal cerebral ventricle morphology	84879	MFSD2A	OMIM:616486
HP:0002118	Abnormal cerebral ventricle morphology	84879	MFSD2A	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	51633	OTUD6B	OMIM:617452
HP:0002118	Abnormal cerebral ventricle morphology	51633	OTUD6B	ORPHA:505237
HP:0002118	Abnormal cerebral ventricle morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002118	Abnormal cerebral ventricle morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002118	Abnormal cerebral ventricle morphology	5048	PAFAH1B1	OMIM:607432
HP:0002118	Abnormal cerebral ventricle morphology	7531	YWHAE	ORPHA:217385
HP:0002118	Abnormal cerebral ventricle morphology	131405	TRIM71	OMIM:618667
HP:0002118	Abnormal cerebral ventricle morphology	3098	HK1	OMIM:618547
HP:0002118	Abnormal cerebral ventricle morphology	9091	PIGQ	OMIM:618548
HP:0002118	Abnormal cerebral ventricle morphology	5590	PRKCZ	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	2563	GABRD	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	23013	SPEN	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	8510	MMP23B	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	7798	LUZP1	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	10630	PDPN	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	10277	UBE4B	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	8514	KCNAB2	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	473	RERE	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	473	RERE	ORPHA:494344
HP:0002118	Abnormal cerebral ventricle morphology	473	RERE	OMIM:616975
HP:0002118	Abnormal cerebral ventricle morphology	63976	PRDM16	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	54897	CASZ1	ORPHA:1606
HP:0002118	Abnormal cerebral ventricle morphology	1859	DYRK1A	ORPHA:464311
HP:0002118	Abnormal cerebral ventricle morphology	1859	DYRK1A	ORPHA:268261
HP:0002118	Abnormal cerebral ventricle morphology	2203	FBP1	ORPHA:348
HP:0002118	Abnormal cerebral ventricle morphology	5621	PRNP	ORPHA:157941
HP:0002118	Abnormal cerebral ventricle morphology	7358	UGDH	OMIM:618792
HP:0002118	Abnormal cerebral ventricle morphology	113179	ADAT3	OMIM:615286
HP:0002118	Abnormal cerebral ventricle morphology	476	ATP1A1	OMIM:618314
HP:0002118	Abnormal cerebral ventricle morphology	200424	TET3	OMIM:618798
HP:0002118	Abnormal cerebral ventricle morphology	10297	APC2	OMIM:618677
HP:0002118	Abnormal cerebral ventricle morphology	10297	APC2	ORPHA:821
HP:0002118	Abnormal cerebral ventricle morphology	9562	MINPP1	OMIM:619527
HP:0002118	Abnormal cerebral ventricle morphology	79633	FAT4	ORPHA:314679
HP:0002118	Abnormal cerebral ventricle morphology	8642	DCHS1	ORPHA:314679
HP:0002118	Abnormal cerebral ventricle morphology	6925	TCF4	OMIM:610954
HP:0002118	Abnormal cerebral ventricle morphology	57688	ZSWIM6	OMIM:603671
HP:0002118	Abnormal cerebral ventricle morphology	57688	ZSWIM6	ORPHA:1827
HP:0002118	Abnormal cerebral ventricle morphology	2271	FH	OMIM:606812
HP:0002118	Abnormal cerebral ventricle morphology	4208	MEF2C	ORPHA:228384
HP:0002118	Abnormal cerebral ventricle morphology	4208	MEF2C	OMIM:613443
HP:0002118	Abnormal cerebral ventricle morphology	55739	NAXD	OMIM:618321
HP:0002118	Abnormal cerebral ventricle morphology	4123	MAN2C1	OMIM:619775
HP:0002118	Abnormal cerebral ventricle morphology	85365	ALG2	OMIM:607906
HP:0002118	Abnormal cerebral ventricle morphology	8565	YARS1	OMIM:619418
HP:0002118	Abnormal cerebral ventricle morphology	84168	ANTXR1	OMIM:230740
HP:0002118	Abnormal cerebral ventricle morphology	23219	FBXO28	OMIM:619777
HP:0002118	Abnormal cerebral ventricle morphology	1107	CHD3	OMIM:618205
HP:0002118	Abnormal cerebral ventricle morphology	23189	KANK1	OMIM:612900
HP:0002118	Abnormal cerebral ventricle morphology	51322	WAC	ORPHA:466950
HP:0002118	Abnormal cerebral ventricle morphology	51322	WAC	ORPHA:284169
HP:0002118	Abnormal cerebral ventricle morphology	404672	GTF2H5	ORPHA:33364
HP:0002118	Abnormal cerebral ventricle morphology	833	CARS1	ORPHA:33364
HP:0002118	Abnormal cerebral ventricle morphology	136647	MPLKIP	ORPHA:33364
HP:0002118	Abnormal cerebral ventricle morphology	6897	TARS1	ORPHA:33364
HP:0002118	Abnormal cerebral ventricle morphology	2961	GTF2E2	ORPHA:33364
HP:0002118	Abnormal cerebral ventricle morphology	8813	DPM1	ORPHA:79322
HP:0002118	Abnormal cerebral ventricle morphology	9526	MPDU1	ORPHA:79323
HP:0002118	Abnormal cerebral ventricle morphology	9526	MPDU1	OMIM:609180
HP:0002118	Abnormal cerebral ventricle morphology	79087	ALG12	ORPHA:79324
HP:0002118	Abnormal cerebral ventricle morphology	79053	ALG8	ORPHA:79325
HP:0002118	Abnormal cerebral ventricle morphology	25970	SH2B1	ORPHA:261197
HP:0002118	Abnormal cerebral ventricle morphology	8295	TRRAP	OMIM:618454
HP:0002118	Abnormal cerebral ventricle morphology	6576	SLC25A1	OMIM:615182
HP:0002118	Abnormal cerebral ventricle morphology	9742	IFT140	OMIM:266920
HP:0002118	Abnormal cerebral ventricle morphology	133686	NADK2	OMIM:616034
HP:0002118	Abnormal cerebral ventricle morphology	133686	NADK2	ORPHA:431361
HP:0002118	Abnormal cerebral ventricle morphology	29968	PSAT1	OMIM:616038
HP:0002118	Abnormal cerebral ventricle morphology	27429	HTRA2	OMIM:617248
HP:0002118	Abnormal cerebral ventricle morphology	9851	KIAA0753	OMIM:617127
HP:0002118	Abnormal cerebral ventricle morphology	9851	KIAA0753	OMIM:619479
HP:0002118	Abnormal cerebral ventricle morphology	5277	PIGA	OMIM:301072
HP:0002118	Abnormal cerebral ventricle morphology	389827	MYMK	OMIM:254940
HP:0002118	Abnormal cerebral ventricle morphology	389827	MYMK	ORPHA:1358
HP:0002118	Abnormal cerebral ventricle morphology	8803	SUCLA2	ORPHA:1933
HP:0002118	Abnormal cerebral ventricle morphology	9361	LONP1	OMIM:600373
HP:0002118	Abnormal cerebral ventricle morphology	9361	LONP1	ORPHA:79243
HP:0002118	Abnormal cerebral ventricle morphology	22827	PUF60	ORPHA:508498
HP:0002118	Abnormal cerebral ventricle morphology	9488	PIGB	OMIM:618580
HP:0002118	Abnormal cerebral ventricle morphology	8925	HERC1	OMIM:617011
HP:0002118	Abnormal cerebral ventricle morphology	8925	HERC1	ORPHA:457359
HP:0002118	Abnormal cerebral ventricle morphology	1281	COL3A1	OMIM:618343
HP:0002118	Abnormal cerebral ventricle morphology	4728	NDUFS8	OMIM:618222
HP:0002118	Abnormal cerebral ventricle morphology	2775	GNAO1	OMIM:617493
HP:0002118	Abnormal cerebral ventricle morphology	9759	HDAC4	OMIM:619797
HP:0002118	Abnormal cerebral ventricle morphology	30000	TNPO2	OMIM:619556
HP:0002118	Abnormal cerebral ventricle morphology	54892	NCAPG2	OMIM:618460
HP:0002118	Abnormal cerebral ventricle morphology	160418	TMTC3	OMIM:617255
HP:0002118	Abnormal cerebral ventricle morphology	54517	PUS7	OMIM:618342
HP:0002118	Abnormal cerebral ventricle morphology	92335	STRADA	ORPHA:500533
HP:0002118	Abnormal cerebral ventricle morphology	92335	STRADA	OMIM:611087
HP:0002118	Abnormal cerebral ventricle morphology	4720	NDUFS2	OMIM:618228
HP:0002118	Abnormal cerebral ventricle morphology	4720	NDUFS2	ORPHA:70474
HP:0002118	Abnormal cerebral ventricle morphology	79813	EHMT1	ORPHA:96147
HP:0002118	Abnormal cerebral ventricle morphology	79813	EHMT1	ORPHA:261652
HP:0002118	Abnormal cerebral ventricle morphology	10102	TSFM	OMIM:610505
HP:0002118	Abnormal cerebral ventricle morphology	170302	ARX	OMIM:308350
HP:0002118	Abnormal cerebral ventricle morphology	170302	ARX	ORPHA:452
HP:0002118	Abnormal cerebral ventricle morphology	170302	ARX	OMIM:300215
HP:0002118	Abnormal cerebral ventricle morphology	7681	MKRN3	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	3653	IPW	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	54551	MAGEL2	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	54551	MAGEL2	ORPHA:398069
HP:0002118	Abnormal cerebral ventricle morphology	54551	MAGEL2	ORPHA:98754
HP:0002118	Abnormal cerebral ventricle morphology	54551	MAGEL2	ORPHA:177904
HP:0002118	Abnormal cerebral ventricle morphology	54551	MAGEL2	ORPHA:177901
HP:0002118	Abnormal cerebral ventricle morphology	791114	PWRN1	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	100033413	SNORD116-1	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	8924	HERC2	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	145624	PWAR1	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	23742	NPAP1	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	338433	SNORD115-1	OMIM:176270
HP:0002118	Abnormal cerebral ventricle morphology	7707	ZNF148	OMIM:617260
HP:0002118	Abnormal cerebral ventricle morphology	55869	HDAC8	OMIM:300882
HP:0002118	Abnormal cerebral ventricle morphology	55869	HDAC8	ORPHA:199
HP:0002118	Abnormal cerebral ventricle morphology	5515	PPP2CA	OMIM:618354
HP:0002118	Abnormal cerebral ventricle morphology	26275	HIBCH	ORPHA:88639
HP:0002118	Abnormal cerebral ventricle morphology	650	BMP2	ORPHA:261295
HP:0002118	Abnormal cerebral ventricle morphology	23102	TBC1D2B	OMIM:619323
HP:0002118	Abnormal cerebral ventricle morphology	57520	HECW2	OMIM:617268
HP:0002118	Abnormal cerebral ventricle morphology	51601	LIPT1	OMIM:616299
HP:0002118	Abnormal cerebral ventricle morphology	10659	CELF2	OMIM:619561
HP:0002118	Abnormal cerebral ventricle morphology	6492	SIM1	ORPHA:398079
HP:0002118	Abnormal cerebral ventricle morphology	27185	DISC1	ORPHA:171703
HP:0002118	Abnormal cerebral ventricle morphology	8320	EOMES	ORPHA:171703
HP:0002118	Abnormal cerebral ventricle morphology	1654	DDX3X	ORPHA:457260
HP:0002118	Abnormal cerebral ventricle morphology	1654	DDX3X	OMIM:300958
HP:0002118	Abnormal cerebral ventricle morphology	23729	SHPK	ORPHA:440713
HP:0002118	Abnormal cerebral ventricle morphology	5080	PAX6	ORPHA:137902
HP:0002118	Abnormal cerebral ventricle morphology	5080	PAX6	OMIM:120200
HP:0002118	Abnormal cerebral ventricle morphology	26128	KIFBP	ORPHA:66629
HP:0002118	Abnormal cerebral ventricle morphology	5660	PSAP	OMIM:611722
HP:0002118	Abnormal cerebral ventricle morphology	4952	OCRL	ORPHA:534
HP:0002118	Abnormal cerebral ventricle morphology	4952	OCRL	OMIM:309000
HP:0002118	Abnormal cerebral ventricle morphology	9179	AP4M1	OMIM:612936
HP:0002118	Abnormal cerebral ventricle morphology	3417	IDH1	ORPHA:99646
HP:0002118	Abnormal cerebral ventricle morphology	347733	TUBB2B	ORPHA:467166
HP:0002118	Abnormal cerebral ventricle morphology	23221	RHOBTB2	OMIM:618004
HP:0002118	Abnormal cerebral ventricle morphology	55572	FOXRED1	OMIM:618241
HP:0002118	Abnormal cerebral ventricle morphology	8260	NAA10	OMIM:300855
HP:0002118	Abnormal cerebral ventricle morphology	8260	NAA10	ORPHA:276432
HP:0002118	Abnormal cerebral ventricle morphology	11274	USP18	OMIM:617397
HP:0002118	Abnormal cerebral ventricle morphology	1108	CHD4	OMIM:617159
HP:0002118	Abnormal cerebral ventricle morphology	26999	CYFIP2	OMIM:618008
HP:0002118	Abnormal cerebral ventricle morphology	51608	GET4	OMIM:620200
HP:0002118	Abnormal cerebral ventricle morphology	2898	GRIK2	OMIM:619580
HP:0002118	Abnormal cerebral ventricle morphology	191	AHCY	ORPHA:88618
HP:0002118	Abnormal cerebral ventricle morphology	1760	DMPK	ORPHA:589821
HP:0002118	Abnormal cerebral ventricle morphology	633	BGN	OMIM:300989
HP:0002118	Abnormal cerebral ventricle morphology	51300	TIMMDC1	OMIM:618251
HP:0002118	Abnormal cerebral ventricle morphology	4700	NDUFA6	OMIM:618253
HP:0002118	Abnormal cerebral ventricle morphology	2475	MTOR	ORPHA:457485
HP:0002118	Abnormal cerebral ventricle morphology	2475	MTOR	ORPHA:99802
HP:0002118	Abnormal cerebral ventricle morphology	2475	MTOR	OMIM:616638
HP:0002118	Abnormal cerebral ventricle morphology	8635	RNASET2	OMIM:612951
HP:0002118	Abnormal cerebral ventricle morphology	6304	SATB1	OMIM:619229
HP:0002118	Abnormal cerebral ventricle morphology	220296	HEPACAM	OMIM:613925
HP:0002118	Abnormal cerebral ventricle morphology	8883	NAE1	OMIM:620210
HP:0002118	Abnormal cerebral ventricle morphology	60386	SLC25A19	ORPHA:99742
HP:0002118	Abnormal cerebral ventricle morphology	79718	TBL1XR1	ORPHA:487825
HP:0002118	Abnormal cerebral ventricle morphology	50801	KCNK4	OMIM:618381
HP:0002118	Abnormal cerebral ventricle morphology	11212	PLPBP	OMIM:617290
HP:0002118	Abnormal cerebral ventricle morphology	11212	PLPBP	ORPHA:3006
HP:0002118	Abnormal cerebral ventricle morphology	51241	COX16	OMIM:619355
HP:0002118	Abnormal cerebral ventricle morphology	57187	THOC2	OMIM:300957
HP:0002118	Abnormal cerebral ventricle morphology	27107	ZBTB11	OMIM:618383
HP:0002118	Abnormal cerebral ventricle morphology	3839	KPNA3	OMIM:620106
HP:0002118	Abnormal cerebral ventricle morphology	4983	OPHN1	ORPHA:137831
HP:0002118	Abnormal cerebral ventricle morphology	4983	OPHN1	OMIM:300486
HP:0002118	Abnormal cerebral ventricle morphology	80036	TRPM3	OMIM:620224
HP:0002118	Abnormal cerebral ventricle morphology	2131	EXT1	ORPHA:502
HP:0002118	Abnormal cerebral ventricle morphology	7227	TRPS1	ORPHA:502
HP:0002118	Abnormal cerebral ventricle morphology	25839	COG4	OMIM:618150
HP:0002118	Abnormal cerebral ventricle morphology	6872	TAF1	OMIM:300966
HP:0002118	Abnormal cerebral ventricle morphology	374354	NHLRC2	OMIM:618278
HP:0002118	Abnormal cerebral ventricle morphology	374879	ZNF699	OMIM:619488
HP:0002118	Abnormal cerebral ventricle morphology	128240	NAXE	OMIM:617186
HP:0002118	Abnormal cerebral ventricle morphology	22983	MAST1	OMIM:618273
HP:0002118	Abnormal cerebral ventricle morphology	6472	SHMT2	OMIM:619121
HP:0002118	Abnormal cerebral ventricle morphology	29123	ANKRD11	ORPHA:261250
HP:0002118	Abnormal cerebral ventricle morphology	84340	GFM2	OMIM:618397
HP:0002118	Abnormal cerebral ventricle morphology	9373	PLAA	ORPHA:521426
HP:0002118	Abnormal cerebral ventricle morphology	9373	PLAA	OMIM:617527
HP:0002118	Abnormal cerebral ventricle morphology	1759	DNM1	OMIM:620352
HP:0002118	Abnormal cerebral ventricle morphology	55252	ASXL2	OMIM:617190
HP:0002118	Abnormal cerebral ventricle morphology	6904	TBCD	OMIM:617193
HP:0002118	Abnormal cerebral ventricle morphology	340533	NEXMIF	ORPHA:85277
HP:0002118	Abnormal cerebral ventricle morphology	10479	SLC9A6	ORPHA:85278
HP:0002118	Abnormal cerebral ventricle morphology	4781	NFIB	OMIM:618286
HP:0002118	Abnormal cerebral ventricle morphology	54187	NANS	OMIM:610442
HP:0002118	Abnormal cerebral ventricle morphology	3295	HSD17B4	OMIM:261515
HP:0002118	Abnormal cerebral ventricle morphology	4508	MT-ATP6	ORPHA:644
HP:0002118	Abnormal cerebral ventricle morphology	23299	BICD2	OMIM:618291
HP:0002118	Abnormal cerebral ventricle morphology	57538	ALPK3	OMIM:618052
HP:0002118	Abnormal cerebral ventricle morphology	129285	PPP1R21	OMIM:619383
HP:0002118	Abnormal cerebral ventricle morphology	221692	PHACTR1	OMIM:618298
HP:0002118	Abnormal cerebral ventricle morphology	3708	ITPR1	OMIM:206700
HP:0002118	Abnormal cerebral ventricle morphology	5138	PDE2A	OMIM:619150
HP:0002118	Abnormal cerebral ventricle morphology	11113	CIT	OMIM:617090
HP:0002118	Abnormal cerebral ventricle morphology	11113	CIT	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	4702	NDUFA8	OMIM:619272
HP:0002118	Abnormal cerebral ventricle morphology	2294	FOXF1	OMIM:265380
HP:0002118	Abnormal cerebral ventricle morphology	8450	CUL4B	OMIM:300354
HP:0002118	Abnormal cerebral ventricle morphology	55503	TRPV6	OMIM:618188
HP:0002118	Abnormal cerebral ventricle morphology	83700	JAM3	OMIM:613730
HP:0002118	Abnormal cerebral ventricle morphology	5885	RAD21	OMIM:614701
HP:0002118	Abnormal cerebral ventricle morphology	5885	RAD21	ORPHA:199
HP:0002118	Abnormal cerebral ventricle morphology	54820	NDE1	ORPHA:2177
HP:0002118	Abnormal cerebral ventricle morphology	54820	NDE1	OMIM:605013
HP:0002118	Abnormal cerebral ventricle morphology	4774	NFIA	OMIM:613735
HP:0002118	Abnormal cerebral ventricle morphology	4774	NFIA	ORPHA:401986
HP:0002118	Abnormal cerebral ventricle morphology	10667	FARS2	OMIM:614946
HP:0002118	Abnormal cerebral ventricle morphology	8496	PPFIBP1	OMIM:620024
HP:0002118	Abnormal cerebral ventricle morphology	9839	ZEB2	OMIM:235730
HP:0002118	Abnormal cerebral ventricle morphology	64324	NSD1	ORPHA:821
HP:0002118	Abnormal cerebral ventricle morphology	64324	NSD1	OMIM:117550
HP:0002118	Abnormal cerebral ventricle morphology	80232	WDR26	ORPHA:513456
HP:0002118	Abnormal cerebral ventricle morphology	80232	WDR26	OMIM:617616
HP:0002118	Abnormal cerebral ventricle morphology	89910	UBE3B	OMIM:244450
HP:0002118	Abnormal cerebral ventricle morphology	2314	FLII	ORPHA:819
HP:0002118	Abnormal cerebral ventricle morphology	23096	IQSEC2	ORPHA:819
HP:0002118	Abnormal cerebral ventricle morphology	10743	RAI1	ORPHA:819
HP:0002118	Abnormal cerebral ventricle morphology	10743	RAI1	OMIM:182290
HP:0002118	Abnormal cerebral ventricle morphology	10522	DEAF1	ORPHA:819
HP:0002118	Abnormal cerebral ventricle morphology	23431	AP4E1	OMIM:613744
HP:0002118	Abnormal cerebral ventricle morphology	25782	RAB3GAP2	OMIM:212720
HP:0002118	Abnormal cerebral ventricle morphology	10978	CLP1	OMIM:615803
HP:0002118	Abnormal cerebral ventricle morphology	271	AMPD2	OMIM:615809
HP:0002118	Abnormal cerebral ventricle morphology	1340	COX6B1	OMIM:619051
HP:0002118	Abnormal cerebral ventricle morphology	6197	RPS6KA3	OMIM:303600
HP:0002118	Abnormal cerebral ventricle morphology	6197	RPS6KA3	ORPHA:192
HP:0002118	Abnormal cerebral ventricle morphology	4001	LMNB1	OMIM:619179
HP:0002118	Abnormal cerebral ventricle morphology	2892	GRIA3	OMIM:300699
HP:0002118	Abnormal cerebral ventricle morphology	1351	COX8A	OMIM:619059
HP:0002118	Abnormal cerebral ventricle morphology	3064	HTT	ORPHA:248111
HP:0002118	Abnormal cerebral ventricle morphology	9570	GOSR2	OMIM:620166
HP:0002118	Abnormal cerebral ventricle morphology	84823	LMNB2	OMIM:619180
HP:0002118	Abnormal cerebral ventricle morphology	84823	LMNB2	OMIM:616540
HP:0002118	Abnormal cerebral ventricle morphology	23036	ZNF292	OMIM:619188
HP:0002118	Abnormal cerebral ventricle morphology	4591	TRIM37	OMIM:253250
HP:0002118	Abnormal cerebral ventricle morphology	10352	WARS2	ORPHA:572798
HP:0002118	Abnormal cerebral ventricle morphology	10352	WARS2	OMIM:617710
HP:0002118	Abnormal cerebral ventricle morphology	84342	COG8	ORPHA:95428
HP:0002118	Abnormal cerebral ventricle morphology	84342	COG8	OMIM:611182
HP:0002118	Abnormal cerebral ventricle morphology	11284	PNKP	OMIM:613402
HP:0002118	Abnormal cerebral ventricle morphology	4338	MOCS2	OMIM:252160
HP:0002118	Abnormal cerebral ventricle morphology	25942	SIN3A	OMIM:613406
HP:0002118	Abnormal cerebral ventricle morphology	25942	SIN3A	ORPHA:500166
HP:0002118	Abnormal cerebral ventricle morphology	2615	LRRC32	OMIM:619074
HP:0002118	Abnormal cerebral ventricle morphology	79753	SNIP1	OMIM:614501
HP:0002118	Abnormal cerebral ventricle morphology	84720	PIGO	OMIM:614749
HP:0002118	Abnormal cerebral ventricle morphology	83475	DOHH	OMIM:620066
HP:0002118	Abnormal cerebral ventricle morphology	79228	THOC6	ORPHA:363444
HP:0002118	Abnormal cerebral ventricle morphology	58508	KMT2C	ORPHA:261652
HP:0002118	Abnormal cerebral ventricle morphology	10436	EMG1	ORPHA:1270
HP:0002118	Abnormal cerebral ventricle morphology	9568	GABBR2	OMIM:617903
HP:0002118	Abnormal cerebral ventricle morphology	9568	GABBR2	OMIM:617904
HP:0002118	Abnormal cerebral ventricle morphology	54499	TMCO1	ORPHA:1394
HP:0002118	Abnormal cerebral ventricle morphology	6638	SNRPN	ORPHA:98754
HP:0002118	Abnormal cerebral ventricle morphology	6638	SNRPN	ORPHA:177904
HP:0002118	Abnormal cerebral ventricle morphology	6638	SNRPN	ORPHA:177901
HP:0002118	Abnormal cerebral ventricle morphology	4692	NDN	ORPHA:98754
HP:0002118	Abnormal cerebral ventricle morphology	4692	NDN	ORPHA:177904
HP:0002118	Abnormal cerebral ventricle morphology	4692	NDN	ORPHA:177901
HP:0002118	Abnormal cerebral ventricle morphology	4948	OCA2	ORPHA:98754
HP:0002118	Abnormal cerebral ventricle morphology	4948	OCA2	ORPHA:177904
HP:0002118	Abnormal cerebral ventricle morphology	4948	OCA2	ORPHA:177901
HP:0002118	Abnormal cerebral ventricle morphology	23483	TGDS	ORPHA:1388
HP:0002118	Abnormal cerebral ventricle morphology	55275	VPS53	OMIM:615851
HP:0002118	Abnormal cerebral ventricle morphology	2146	EZH2	OMIM:277590
HP:0002118	Abnormal cerebral ventricle morphology	64116	SLC39A8	ORPHA:468699
HP:0002118	Abnormal cerebral ventricle morphology	51750	RTEL1	ORPHA:3322
HP:0002118	Abnormal cerebral ventricle morphology	65057	ACD	ORPHA:3322
HP:0002118	Abnormal cerebral ventricle morphology	5073	PARN	ORPHA:3322
HP:0002118	Abnormal cerebral ventricle morphology	26277	TINF2	ORPHA:3322
HP:0002118	Abnormal cerebral ventricle morphology	1736	DKC1	ORPHA:3322
HP:0002118	Abnormal cerebral ventricle morphology	63925	ZNF335	ORPHA:329228
HP:0002118	Abnormal cerebral ventricle morphology	9276	COPB2	OMIM:617800
HP:0002118	Abnormal cerebral ventricle morphology	9276	COPB2	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	22907	DHX30	OMIM:617804
HP:0002118	Abnormal cerebral ventricle morphology	10664	CTCF	OMIM:615502
HP:0002118	Abnormal cerebral ventricle morphology	10664	CTCF	ORPHA:363611
HP:0002118	Abnormal cerebral ventricle morphology	9230	RAB11B	OMIM:617807
HP:0002118	Abnormal cerebral ventricle morphology	90417	KNSTRN	OMIM:613328
HP:0002118	Abnormal cerebral ventricle morphology	90417	KNSTRN	ORPHA:221139
HP:0002118	Abnormal cerebral ventricle morphology	5293	PIK3CD	OMIM:613328
HP:0002118	Abnormal cerebral ventricle morphology	5293	PIK3CD	ORPHA:221139
HP:0002118	Abnormal cerebral ventricle morphology	84153	RNASEH2C	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	25939	SAMHD1	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	79621	RNASEH2B	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	103	ADAR	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	11277	TREX1	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	100147744	RNU7-1	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	134353	LSM11	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	64135	IFIH1	ORPHA:51
HP:0002118	Abnormal cerebral ventricle morphology	27152	INTU	OMIM:617926
HP:0002118	Abnormal cerebral ventricle morphology	10075	HUWE1	OMIM:309590
HP:0002118	Abnormal cerebral ventricle morphology	55906	ZC4H2	OMIM:301041
HP:0002118	Abnormal cerebral ventricle morphology	11133	KPTN	OMIM:615637
HP:0002118	Abnormal cerebral ventricle morphology	85358	SHANK3	OMIM:606232
HP:0002118	Abnormal cerebral ventricle morphology	1729	DIAPH1	ORPHA:2573
HP:0002118	Abnormal cerebral ventricle morphology	59	ACTA2	ORPHA:2573
HP:0002118	Abnormal cerebral ventricle morphology	57674	RNF213	ORPHA:2573
HP:0002118	Abnormal cerebral ventricle morphology	50943	FOXP3	OMIM:304790
HP:0002118	Abnormal cerebral ventricle morphology	8050	PDHX	ORPHA:255182
HP:0002118	Abnormal cerebral ventricle morphology	55593	OTUD5	OMIM:301056
HP:0002118	Abnormal cerebral ventricle morphology	57526	PCDH19	OMIM:300088
HP:0002118	Abnormal cerebral ventricle morphology	5859	QARS1	OMIM:615760
HP:0002118	Abnormal cerebral ventricle morphology	5160	PDHA1	OMIM:312170
HP:0002118	Abnormal cerebral ventricle morphology	5160	PDHA1	ORPHA:79243
HP:0002118	Abnormal cerebral ventricle morphology	7280	TUBB2A	OMIM:615763
HP:0002118	Abnormal cerebral ventricle morphology	10982	MAPRE2	OMIM:616734
HP:0002118	Abnormal cerebral ventricle morphology	101929726	MYMX	ORPHA:1358
HP:0002118	Abnormal cerebral ventricle morphology	23511	NUP188	OMIM:618804
HP:0002118	Abnormal cerebral ventricle morphology	80746	TSEN2	OMIM:612389
HP:0002118	Abnormal cerebral ventricle morphology	80746	TSEN2	ORPHA:2524
HP:0002118	Abnormal cerebral ventricle morphology	10943	MSL3	OMIM:301032
HP:0002118	Abnormal cerebral ventricle morphology	8985	PLOD3	OMIM:612394
HP:0002118	Abnormal cerebral ventricle morphology	55644	OSGEP	OMIM:617729
HP:0002118	Abnormal cerebral ventricle morphology	2313	FLI1	ORPHA:2308
HP:0002118	Abnormal cerebral ventricle morphology	60	ACTB	OMIM:243310
HP:0002118	Abnormal cerebral ventricle morphology	23476	BRD4	ORPHA:199
HP:0002118	Abnormal cerebral ventricle morphology	9126	SMC3	ORPHA:199
HP:0002118	Abnormal cerebral ventricle morphology	25836	NIPBL	ORPHA:199
HP:0002118	Abnormal cerebral ventricle morphology	9997	SCO2	OMIM:604377
HP:0002118	Abnormal cerebral ventricle morphology	9997	SCO2	ORPHA:70474
HP:0002118	Abnormal cerebral ventricle morphology	71	ACTG1	OMIM:614583
HP:0002118	Abnormal cerebral ventricle morphology	9150	CTDP1	ORPHA:48431
HP:0002118	Abnormal cerebral ventricle morphology	81689	ISCA1	OMIM:617613
HP:0002118	Abnormal cerebral ventricle morphology	22931	RAB18	OMIM:614222
HP:0002118	Abnormal cerebral ventricle morphology	4337	MOCS1	OMIM:252150
HP:0002118	Abnormal cerebral ventricle morphology	51002	TPRKB	OMIM:617731
HP:0002118	Abnormal cerebral ventricle morphology	56270	WDR45B	OMIM:617977
HP:0002118	Abnormal cerebral ventricle morphology	25914	RTTN	ORPHA:468631
HP:0002118	Abnormal cerebral ventricle morphology	8936	WASF1	OMIM:618707
HP:0002118	Abnormal cerebral ventricle morphology	25915	NDUFAF3	ORPHA:70474
HP:0002118	Abnormal cerebral ventricle morphology	4714	NDUFB8	ORPHA:70474
HP:0002118	Abnormal cerebral ventricle morphology	6834	SURF1	ORPHA:70474
HP:0002118	Abnormal cerebral ventricle morphology	7343	UBTF	ORPHA:500180
HP:0002118	Abnormal cerebral ventricle morphology	5162	PDHB	ORPHA:255138
HP:0002118	Abnormal cerebral ventricle morphology	5297	PI4KA	OMIM:616531
HP:0002118	Abnormal cerebral ventricle morphology	122553	TRAPPC6B	OMIM:617862
HP:0002118	Abnormal cerebral ventricle morphology	10293	TRAIP	OMIM:616777
HP:0002118	Abnormal cerebral ventricle morphology	283989	TSEN54	ORPHA:2524
HP:0002118	Abnormal cerebral ventricle morphology	116461	TSEN15	ORPHA:2524
HP:0002118	Abnormal cerebral ventricle morphology	79042	TSEN34	ORPHA:2524
HP:0002118	Abnormal cerebral ventricle morphology	51091	SEPSECS	ORPHA:2524
HP:0002118	Abnormal cerebral ventricle morphology	202018	TAPT1	OMIM:616897
HP:0002118	Abnormal cerebral ventricle morphology	55704	CCDC88A	OMIM:617507
HP:0002118	Abnormal cerebral ventricle morphology	55164	SHQ1	OMIM:619922
HP:0002118	Abnormal cerebral ventricle morphology	100506658	OCLN	OMIM:251290
HP:0002118	Abnormal cerebral ventricle morphology	113246	C12orf57	OMIM:218340
HP:0002118	Abnormal cerebral ventricle morphology	259266	ASPM	OMIM:608716
HP:0002118	Abnormal cerebral ventricle morphology	259266	ASPM	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	7137	TNNI3	OMIM:115210
HP:0002118	Abnormal cerebral ventricle morphology	7518	XRCC4	OMIM:616541
HP:0002118	Abnormal cerebral ventricle morphology	440	ASNS	OMIM:615574
HP:0002118	Abnormal cerebral ventricle morphology	200205	IBA57	OMIM:615330
HP:0002118	Abnormal cerebral ventricle morphology	1284	COL4A2	OMIM:614483
HP:0002118	Abnormal cerebral ventricle morphology	5116	PCNT	ORPHA:2637
HP:0002118	Abnormal cerebral ventricle morphology	5879	RAC1	ORPHA:500159
HP:0002118	Abnormal cerebral ventricle morphology	5430	POLR2A	OMIM:618603
HP:0002118	Abnormal cerebral ventricle morphology	9928	KIF14	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	22995	CEP152	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	284403	WDR62	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	55262	TRAPPC14	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	163786	SASS6	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	29920	PYCR2	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	4176	MCM7	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	80254	CEP63	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	29081	METTL5	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	23310	NCAPD3	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	55755	CDK5RAP2	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	79648	MCPH1	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	23141	ANKLE2	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	7109	TRAPPC10	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	1911	PHC1	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	6884	TAF13	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	9662	CEP135	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	55835	CENPJ	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	57082	KNL1	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	1021	CDK6	ORPHA:2512
HP:0002118	Abnormal cerebral ventricle morphology	23309	SIN3B	ORPHA:500166
HP:0002118	Abnormal cerebral ventricle morphology	1968	EIF2S3	OMIM:300148
HP:0002118	Abnormal cerebral ventricle morphology	51075	TMX2	OMIM:618730
HP:0002118	Abnormal cerebral ventricle morphology	2902	GRIN1	OMIM:614254
HP:0002118	Abnormal cerebral ventricle morphology	92935	MARS2	OMIM:616430
HP:0002118	Abnormal cerebral ventricle morphology	84148	KAT8	OMIM:618974
HP:0002118	Abnormal cerebral ventricle morphology	55753	OGDHL	OMIM:619701
HP:0002118	Abnormal cerebral ventricle morphology	3852	KRT5	ORPHA:79396
HP:0002118	Abnormal cerebral ventricle morphology	3861	KRT14	ORPHA:79396
HP:0002118	Abnormal cerebral ventricle morphology	58499	ZNF462	OMIM:618619
HP:0002118	Abnormal cerebral ventricle morphology	246329	STAC3	OMIM:255995
HP:0002118	Abnormal cerebral ventricle morphology	9990	SLC12A6	OMIM:218000
HP:0002118	Abnormal cerebral ventricle morphology	149371	EXOC8	OMIM:619076
HP:0002118	Abnormal cerebral ventricle morphology	23327	NEDD4L	OMIM:617201
HP:0002118	Abnormal cerebral ventricle morphology	10472	ZBTB18	OMIM:612337
HP:0002118	Abnormal cerebral ventricle morphology	4287	ATXN3	OMIM:109150
HP:0002118	Abnormal cerebral ventricle morphology	4287	ATXN3	ORPHA:276244
HP:0002118	Abnormal cerebral ventricle morphology	4287	ATXN3	ORPHA:276241
HP:0002118	Abnormal cerebral ventricle morphology	4287	ATXN3	ORPHA:276238
HP:0002118	Abnormal cerebral ventricle morphology	116228	COX20	OMIM:619054
HP:0002118	Abnormal cerebral ventricle morphology	123606	NIPA1	ORPHA:261183
HP:0002118	Abnormal cerebral ventricle morphology	7283	TUBG1	ORPHA:261183
HP:0002118	Abnormal cerebral ventricle morphology	81614	NIPA2	ORPHA:261183
HP:0002118	Abnormal cerebral ventricle morphology	8573	CASK	OMIM:300749
HP:0002118	Abnormal cerebral ventricle morphology	267010	RNU12	OMIM:620208
HP:0002118	Abnormal cerebral ventricle morphology	4361	MRE11	ORPHA:251347
HP:0002118	Abnormal cerebral ventricle morphology	23203	PMPCA	OMIM:213200
HP:0002118	Abnormal cerebral ventricle morphology	23203	PMPCA	ORPHA:1170
HP:0002118	Abnormal cerebral ventricle morphology	6311	ATXN2	OMIM:183090
HP:0002118	Abnormal cerebral ventricle morphology	284217	LAMA1	OMIM:615960
HP:0002118	Abnormal cerebral ventricle morphology	284217	LAMA1	ORPHA:370022
HP:0002118	Abnormal cerebral ventricle morphology	2911	GRM1	OMIM:614831
HP:0002118	Abnormal cerebral ventricle morphology	55770	EXOC2	OMIM:619306
HP:0002118	Abnormal cerebral ventricle morphology	79971	WLS	OMIM:619648
HP:0002118	Abnormal cerebral ventricle morphology	6310	ATXN1	OMIM:164400
HP:0002118	Abnormal cerebral ventricle morphology	2074	ERCC6	OMIM:133540
HP:0002118	Abnormal cerebral ventricle morphology	10381	TUBB3	ORPHA:300570
HP:0002118	Abnormal cerebral ventricle morphology	80217	CFAP43	OMIM:236690
HP:0002118	Abnormal cerebral ventricle morphology	1161	ERCC8	OMIM:216400
HP:0002118	Abnormal cerebral ventricle morphology	57122	NUP107	ORPHA:2065
HP:0002118	Abnormal cerebral ventricle morphology	10785	WDR4	ORPHA:2065
HP:0002118	Abnormal cerebral ventricle morphology	55746	NUP133	ORPHA:2065
HP:0002118	Abnormal cerebral ventricle morphology	112858	TP53RK	ORPHA:2065
HP:0002118	Abnormal cerebral ventricle morphology	8270	LAGE3	ORPHA:2065
HP:0002118	Abnormal cerebral ventricle morphology	6599	SMARCC1	OMIM:620241
HP:0002118	Abnormal cerebral ventricle morphology	29980	DONSON	OMIM:251230
HP:0002118	Abnormal cerebral ventricle morphology	10844	TUBGCP2	OMIM:618737
HP:0002118	Abnormal cerebral ventricle morphology	728294	D2HGDH	OMIM:600721
HP:0002118	Abnormal cerebral ventricle morphology	2752	GLUL	OMIM:610015
HP:0002118	Abnormal cerebral ventricle morphology	25828	TXN2	OMIM:616811
HP:0002118	Abnormal cerebral ventricle morphology	25828	TXN2	ORPHA:478029
HP:0002118	Abnormal cerebral ventricle morphology	5189	PEX1	OMIM:214100
HP:0002118	Abnormal cerebral ventricle morphology	81555	YIPF5	OMIM:619278
HP:0002118	Abnormal cerebral ventricle morphology	10466	COG5	ORPHA:263487
HP:0002118	Abnormal cerebral ventricle morphology	4750	NEK1	OMIM:263520
HP:0002118	Abnormal cerebral ventricle morphology	80816	ASXL3	OMIM:615485
HP:0002118	Abnormal cerebral ventricle morphology	387787	LIPT2	OMIM:617668
HP:0002118	Abnormal cerebral ventricle morphology	1841	DTYMK	OMIM:619847
HP:0002118	Abnormal cerebral ventricle morphology	23291	FBXW11	OMIM:618914
HP:0002118	Abnormal cerebral ventricle morphology	57505	AARS2	OMIM:615889
HP:0002118	Abnormal cerebral ventricle morphology	9382	COG1	OMIM:611209
HP:0002118	Abnormal cerebral ventricle morphology	90161	HS6ST2	OMIM:301025
HP:0002118	Abnormal cerebral ventricle morphology	129685	TAF8	OMIM:619972
HP:0002118	Abnormal cerebral ventricle morphology	10588	MTHFS	OMIM:618367
HP:0002118	Abnormal cerebral ventricle morphology	80311	KLHL15	OMIM:300982
HP:0002118	Abnormal cerebral ventricle morphology	25930	PTPN23	OMIM:618890
HP:0002118	Abnormal cerebral ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0002118	Abnormal cerebral ventricle morphology	80208	SPG11	ORPHA:2822
HP:0002118	Abnormal cerebral ventricle morphology	1641	DCX	ORPHA:2148
HP:0002118	Abnormal cerebral ventricle morphology	23230	VPS13A	ORPHA:2388
HP:0002118	Abnormal cerebral ventricle morphology	200734	SPRED2	OMIM:619745
HP:0002118	Abnormal cerebral ventricle morphology	80347	COASY	OMIM:618266
HP:0002118	Abnormal cerebral ventricle morphology	1213	CLTC	OMIM:617854
HP:0002118	Abnormal cerebral ventricle morphology	4329	ALDH6A1	OMIM:614105
HP:0002118	Abnormal cerebral ventricle morphology	93210	PGAP3	OMIM:615716
HP:0002118	Abnormal cerebral ventricle morphology	2896	GRN	OMIM:607485
HP:0002118	Abnormal cerebral ventricle morphology	284252	KCTD1	OMIM:181270
HP:0002118	Abnormal cerebral ventricle morphology	7443	VRK1	OMIM:607596
HP:0002118	Abnormal cerebral ventricle morphology	51244	CCDC174	OMIM:616816
HP:0002118	Abnormal cerebral ventricle morphology	10430	TMEM147	OMIM:620075
HP:0002118	Abnormal cerebral ventricle morphology	8139	GAN	OMIM:256850
HP:0002118	Abnormal cerebral ventricle morphology	1523	CUX1	OMIM:618330
HP:0002118	Abnormal cerebral ventricle morphology	3763	KCNJ6	OMIM:614098
HP:0002118	Abnormal cerebral ventricle morphology	22930	RAB3GAP1	OMIM:619420
HP:0002118	Abnormal cerebral ventricle morphology	2778	GNAS	OMIM:612462
HP:0002118	Abnormal cerebral ventricle morphology	2778	GNAS	OMIM:103580
HP:0002118	Abnormal cerebral ventricle morphology	2778	GNAS	ORPHA:79443
HP:0002118	Abnormal cerebral ventricle morphology	2778	GNAS	ORPHA:79444
HP:0002118	Abnormal cerebral ventricle morphology	1075	CTSC	OMIM:245000
HP:0002118	Abnormal cerebral ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0002118	Abnormal cerebral ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0002118	Abnormal cerebral ventricle morphology	57551	TAOK1	OMIM:619575
HP:0002118	Abnormal cerebral ventricle morphology	7874	USP7	ORPHA:500055
HP:0002118	Abnormal cerebral ventricle morphology	57498	KIDINS220	OMIM:617296
HP:0002118	Abnormal cerebral ventricle morphology	10159	ATP6AP2	ORPHA:363654
HP:0002118	Abnormal cerebral ventricle morphology	9215	LARGE1	OMIM:613154
HP:0002118	Abnormal cerebral ventricle morphology	91875	TTC5	OMIM:619244
HP:0002118	Abnormal cerebral ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0002118	Abnormal cerebral ventricle morphology	4953	ODC1	ORPHA:544488
HP:0002118	Abnormal cerebral ventricle morphology	81857	MED25	ORPHA:464738
HP:0002118	Abnormal cerebral ventricle morphology	3781	KCNN2	OMIM:619725
HP:0002118	Abnormal cerebral ventricle morphology	1786	DNMT1	ORPHA:314404
HP:0002118	Abnormal cerebral ventricle morphology	6651	SON	ORPHA:500150
HP:0002118	Abnormal cerebral ventricle morphology	7249	TSC2	OMIM:613254
HP:0002118	Abnormal cerebral ventricle morphology	7249	TSC2	ORPHA:805
HP:0002118	Abnormal cerebral ventricle morphology	3458	IFNG	OMIM:613254
HP:0002118	Abnormal cerebral ventricle morphology	3458	IFNG	ORPHA:805
HP:0002118	Abnormal cerebral ventricle morphology	2639	GCDH	ORPHA:25
HP:0002118	Abnormal cerebral ventricle morphology	7248	TSC1	ORPHA:805
HP:0002118	Abnormal cerebral ventricle morphology	7248	TSC1	OMIM:191100
HP:0002118	Abnormal cerebral ventricle morphology	51021	MRPS16	OMIM:610498
HP:0002118	Abnormal cerebral ventricle morphology	9578	CDC42BPB	OMIM:619841
HP:0002118	Abnormal cerebral ventricle morphology	29998	BICRA	OMIM:619325
HP:0002118	Abnormal cerebral ventricle morphology	23030	KDM4B	OMIM:619320
HP:0002118	Abnormal cerebral ventricle morphology	54872	PIGG	ORPHA:488635
HP:0002118	Abnormal cerebral ventricle morphology	1387	CREBBP	ORPHA:353277
HP:0002118	Abnormal cerebral ventricle morphology	2033	EP300	ORPHA:353284
HP:0002118	Abnormal cerebral ventricle morphology	3187	HNRNPH1	OMIM:620083
HP:0002118	Abnormal cerebral ventricle morphology	340075	ARSI	ORPHA:401815
HP:0002118	Abnormal cerebral ventricle morphology	23522	KAT6B	OMIM:606170
HP:0002118	Abnormal cerebral ventricle morphology	4659	PPP1R12A	OMIM:618820
HP:0002118	Abnormal cerebral ventricle morphology	5828	PEX2	OMIM:614866
HP:0002118	Abnormal cerebral ventricle morphology	51807	TUBA8	ORPHA:250972
HP:0002118	Abnormal cerebral ventricle morphology	5361	PLXNA1	OMIM:619955
HP:0002118	Abnormal cerebral ventricle morphology	23028	KDM1A	ORPHA:477993
HP:0002118	Abnormal cerebral ventricle morphology	57647	DHX37	OMIM:618731
HP:0002118	Abnormal cerebral ventricle morphology	5192	PEX10	OMIM:614870
HP:0002118	Abnormal cerebral ventricle morphology	118924	FRA10AC1	OMIM:620113
HP:0002118	Abnormal cerebral ventricle morphology	55780	ERMARD	ORPHA:75857
HP:0002118	Abnormal cerebral ventricle morphology	1029	CDKN2A	ORPHA:524
HP:0002118	Abnormal cerebral ventricle morphology	4193	MDM2	ORPHA:524
HP:0002118	Abnormal cerebral ventricle morphology	11200	CHEK2	ORPHA:524
HP:0002118	Abnormal cerebral ventricle morphology	79029	AFG2B	OMIM:619616
HP:0002118	Abnormal cerebral ventricle morphology	80055	PGAP1	OMIM:615802
HP:0002119	Ventriculomegaly	10682	EBP	ORPHA:401973
HP:0002119	Ventriculomegaly	10682	EBP	OMIM:300960
HP:0002119	Ventriculomegaly	10682	EBP	OMIM:302960
HP:0002119	Ventriculomegaly	56896	DPYSL5	OMIM:619435
HP:0002119	Ventriculomegaly	3265	HRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	3845	KRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	4893	NRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	4893	NRAS	OMIM:249400
HP:0002119	Ventriculomegaly	23556	PIGN	ORPHA:2059
HP:0002119	Ventriculomegaly	65062	TMEM237	OMIM:614424
HP:0002119	Ventriculomegaly	65062	TMEM237	ORPHA:564
HP:0002119	Ventriculomegaly	84942	WDR73	OMIM:251300
HP:0002119	Ventriculomegaly	2737	GLI3	ORPHA:36
HP:0002119	Ventriculomegaly	374654	KIF7	ORPHA:36
HP:0002119	Ventriculomegaly	57465	TBC1D24	OMIM:220500
HP:0002119	Ventriculomegaly	57465	TBC1D24	ORPHA:79500
HP:0002119	Ventriculomegaly	55112	DYNC2I1	ORPHA:93271
HP:0002119	Ventriculomegaly	57560	IFT80	ORPHA:93271
HP:0002119	Ventriculomegaly	57539	WDR35	ORPHA:93271
HP:0002119	Ventriculomegaly	79659	DYNC2H1	ORPHA:93271
HP:0002119	Ventriculomegaly	89891	DYNC2I2	ORPHA:93271
HP:0002119	Ventriculomegaly	1436	CSF1R	OMIM:618476
HP:0002119	Ventriculomegaly	84162	BLTP1	OMIM:617822
HP:0002119	Ventriculomegaly	4081	MAB21L1	OMIM:618479
HP:0002119	Ventriculomegaly	55636	CHD7	ORPHA:138
HP:0002119	Ventriculomegaly	9723	SEMA3E	ORPHA:138
HP:0002119	Ventriculomegaly	2218	FKTN	OMIM:236670
HP:0002119	Ventriculomegaly	2218	FKTN	ORPHA:899
HP:0002119	Ventriculomegaly	84892	POMGNT2	ORPHA:899
HP:0002119	Ventriculomegaly	148789	B3GALNT2	ORPHA:899
HP:0002119	Ventriculomegaly	1282	COL4A1	ORPHA:899
HP:0002119	Ventriculomegaly	729920	CRPPA	ORPHA:899
HP:0002119	Ventriculomegaly	729920	CRPPA	OMIM:614643
HP:0002119	Ventriculomegaly	10329	RXYLT1	ORPHA:899
HP:0002119	Ventriculomegaly	1605	DAG1	ORPHA:899
HP:0002119	Ventriculomegaly	11041	B4GAT1	ORPHA:899
HP:0002119	Ventriculomegaly	11041	B4GAT1	OMIM:615287
HP:0002119	Ventriculomegaly	79068	FTO	OMIM:612938
HP:0002119	Ventriculomegaly	57492	ARID1B	OMIM:135900
HP:0002119	Ventriculomegaly	57492	ARID1B	ORPHA:1465
HP:0002119	Ventriculomegaly	3899	AFF3	OMIM:619297
HP:0002119	Ventriculomegaly	6597	SMARCA4	ORPHA:1465
HP:0002119	Ventriculomegaly	6597	SMARCA4	OMIM:614609
HP:0002119	Ventriculomegaly	6598	SMARCB1	ORPHA:1465
HP:0002119	Ventriculomegaly	6598	SMARCB1	OMIM:614608
HP:0002119	Ventriculomegaly	6659	SOX4	ORPHA:1465
HP:0002119	Ventriculomegaly	8289	ARID1A	ORPHA:1465
HP:0002119	Ventriculomegaly	8289	ARID1A	OMIM:614607
HP:0002119	Ventriculomegaly	5977	DPF2	ORPHA:1465
HP:0002119	Ventriculomegaly	6601	SMARCC2	ORPHA:1465
HP:0002119	Ventriculomegaly	6602	SMARCD1	ORPHA:1465
HP:0002119	Ventriculomegaly	196528	ARID2	ORPHA:1465
HP:0002119	Ventriculomegaly	6605	SMARCE1	ORPHA:1465
HP:0002119	Ventriculomegaly	6605	SMARCE1	OMIM:616938
HP:0002119	Ventriculomegaly	6664	SOX11	ORPHA:1465
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	ORPHA:2834
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	OMIM:219200
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	ORPHA:357074
HP:0002119	Ventriculomegaly	1801	DPH1	OMIM:616901
HP:0002119	Ventriculomegaly	1801	DPH1	ORPHA:459061
HP:0002119	Ventriculomegaly	27315	PGAP2	OMIM:614207
HP:0002119	Ventriculomegaly	157570	ESCO2	ORPHA:2319
HP:0002119	Ventriculomegaly	5340	PLG	ORPHA:722
HP:0002119	Ventriculomegaly	5340	PLG	OMIM:217090
HP:0002119	Ventriculomegaly	1717	DHCR7	OMIM:270400
HP:0002119	Ventriculomegaly	84314	TMEM107	ORPHA:564
HP:0002119	Ventriculomegaly	26123	TCTN3	ORPHA:564
HP:0002119	Ventriculomegaly	79867	TCTN2	ORPHA:564
HP:0002119	Ventriculomegaly	79600	TCTN1	ORPHA:564
HP:0002119	Ventriculomegaly	57096	RPGRIP1	ORPHA:564
HP:0002119	Ventriculomegaly	80184	CEP290	ORPHA:564
HP:0002119	Ventriculomegaly	80184	CEP290	OMIM:611134
HP:0002119	Ventriculomegaly	57545	CC2D2A	ORPHA:564
HP:0002119	Ventriculomegaly	79583	TMEM231	ORPHA:564
HP:0002119	Ventriculomegaly	79583	TMEM231	ORPHA:2752
HP:0002119	Ventriculomegaly	79770	TXNDC15	ORPHA:564
HP:0002119	Ventriculomegaly	27077	B9D1	ORPHA:564
HP:0002119	Ventriculomegaly	23322	RPGRIP1L	ORPHA:564
HP:0002119	Ventriculomegaly	27031	NPHP3	OMIM:267010
HP:0002119	Ventriculomegaly	27031	NPHP3	OMIM:208540
HP:0002119	Ventriculomegaly	27031	NPHP3	ORPHA:3032
HP:0002119	Ventriculomegaly	23258	DENND5A	OMIM:617281
HP:0002119	Ventriculomegaly	171023	ASXL1	ORPHA:97297
HP:0002119	Ventriculomegaly	171023	ASXL1	OMIM:605039
HP:0002119	Ventriculomegaly	9184	BUB3	ORPHA:1052
HP:0002119	Ventriculomegaly	699	BUB1	ORPHA:1052
HP:0002119	Ventriculomegaly	9702	CEP57	ORPHA:1052
HP:0002119	Ventriculomegaly	9319	TRIP13	ORPHA:1052
HP:0002119	Ventriculomegaly	701	BUB1B	ORPHA:1052
HP:0002119	Ventriculomegaly	701	BUB1B	OMIM:257300
HP:0002119	Ventriculomegaly	84188	FAR1	ORPHA:438178
HP:0002119	Ventriculomegaly	84188	FAR1	OMIM:616154
HP:0002119	Ventriculomegaly	2260	FGFR1	OMIM:613001
HP:0002119	Ventriculomegaly	124997	WDR81	OMIM:617967
HP:0002119	Ventriculomegaly	2683	B4GALT1	OMIM:607091
HP:0002119	Ventriculomegaly	2683	B4GALT1	ORPHA:79332
HP:0002119	Ventriculomegaly	26227	PHGDH	OMIM:256520
HP:0002119	Ventriculomegaly	10804	GJB6	ORPHA:477
HP:0002119	Ventriculomegaly	2706	GJB2	ORPHA:477
HP:0002119	Ventriculomegaly	4927	NUP88	ORPHA:994
HP:0002119	Ventriculomegaly	4654	MYOD1	ORPHA:994
HP:0002119	Ventriculomegaly	4593	MUSK	ORPHA:994
HP:0002119	Ventriculomegaly	5913	RAPSN	ORPHA:994
HP:0002119	Ventriculomegaly	6572	SLC18A3	ORPHA:994
HP:0002119	Ventriculomegaly	285489	DOK7	ORPHA:994
HP:0002119	Ventriculomegaly	7737	RNF113A	OMIM:300953
HP:0002119	Ventriculomegaly	998	CDC42	ORPHA:487796
HP:0002119	Ventriculomegaly	51524	TMEM138	OMIM:614465
HP:0002119	Ventriculomegaly	11128	POLR3A	OMIM:264090
HP:0002119	Ventriculomegaly	4534	MTM1	OMIM:310400
HP:0002119	Ventriculomegaly	526	ATP6V1B2	ORPHA:79500
HP:0002119	Ventriculomegaly	54880	BCOR	OMIM:300166
HP:0002119	Ventriculomegaly	55640	FLVCR2	OMIM:225790
HP:0002119	Ventriculomegaly	28952	CCDC22	OMIM:300963
HP:0002119	Ventriculomegaly	28952	CCDC22	ORPHA:7
HP:0002119	Ventriculomegaly	80210	ARMC9	OMIM:617622
HP:0002119	Ventriculomegaly	5500	PPP1CB	OMIM:617506
HP:0002119	Ventriculomegaly	54676	GTPBP2	OMIM:617988
HP:0002119	Ventriculomegaly	63895	PIEZO2	OMIM:248700
HP:0002119	Ventriculomegaly	9897	WASHC5	OMIM:220210
HP:0002119	Ventriculomegaly	9897	WASHC5	ORPHA:7
HP:0002119	Ventriculomegaly	2239	GPC4	ORPHA:373
HP:0002119	Ventriculomegaly	2719	GPC3	ORPHA:373
HP:0002119	Ventriculomegaly	23007	PLCH1	OMIM:619895
HP:0002119	Ventriculomegaly	2121	EVC	OMIM:225500
HP:0002119	Ventriculomegaly	132884	EVC2	OMIM:225500
HP:0002119	Ventriculomegaly	153241	CEP120	OMIM:616300
HP:0002119	Ventriculomegaly	523	ATP6V1A	ORPHA:357074
HP:0002119	Ventriculomegaly	529	ATP6V1E1	ORPHA:357074
HP:0002119	Ventriculomegaly	3798	KIF5A	OMIM:617235
HP:0002119	Ventriculomegaly	1028	CDKN1C	OMIM:130650
HP:0002119	Ventriculomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0002119	Ventriculomegaly	3481	IGF2	OMIM:130650
HP:0002119	Ventriculomegaly	3784	KCNQ1	OMIM:130650
HP:0002119	Ventriculomegaly	1376	CPT2	ORPHA:228305
HP:0002119	Ventriculomegaly	10195	ALG3	ORPHA:79321
HP:0002119	Ventriculomegaly	8481	OFD1	ORPHA:2750
HP:0002119	Ventriculomegaly	219844	HYLS1	OMIM:236680
HP:0002119	Ventriculomegaly	4281	MID1	ORPHA:2745
HP:0002119	Ventriculomegaly	8905	AP1S2	OMIM:304340
HP:0002119	Ventriculomegaly	2137	EXTL3	ORPHA:508533
HP:0002119	Ventriculomegaly	1718	DHCR24	OMIM:602398
HP:0002119	Ventriculomegaly	1718	DHCR24	ORPHA:35107
HP:0002119	Ventriculomegaly	29899	GPSM2	OMIM:604213
HP:0002119	Ventriculomegaly	4524	MTHFR	ORPHA:395
HP:0002119	Ventriculomegaly	26235	FBXL4	OMIM:615471
HP:0002119	Ventriculomegaly	4099	MAG	OMIM:616680
HP:0002119	Ventriculomegaly	55823	VPS11	OMIM:616683
HP:0002119	Ventriculomegaly	55823	VPS11	ORPHA:466934
HP:0002119	Ventriculomegaly	2972	BRF1	OMIM:616202
HP:0002119	Ventriculomegaly	2972	BRF1	ORPHA:444072
HP:0002119	Ventriculomegaly	4897	NRCAM	OMIM:619833
HP:0002119	Ventriculomegaly	22800	RRAS2	OMIM:618624
HP:0002119	Ventriculomegaly	3008	H1-4	OMIM:617537
HP:0002119	Ventriculomegaly	2720	GLB1	OMIM:230600
HP:0002119	Ventriculomegaly	2720	GLB1	OMIM:230650
HP:0002119	Ventriculomegaly	1788	DNMT3A	ORPHA:404443
HP:0002119	Ventriculomegaly	1788	DNMT3A	OMIM:615879
HP:0002119	Ventriculomegaly	6662	SOX9	ORPHA:140
HP:0002119	Ventriculomegaly	2073	ERCC5	OMIM:616570
HP:0002119	Ventriculomegaly	3020	H3-3A	OMIM:619720
HP:0002119	Ventriculomegaly	10300	KATNB1	OMIM:616212
HP:0002119	Ventriculomegaly	6536	SLC6A9	OMIM:617301
HP:0002119	Ventriculomegaly	55159	RFWD3	OMIM:617784
HP:0002119	Ventriculomegaly	55159	RFWD3	ORPHA:84
HP:0002119	Ventriculomegaly	8722	CTSF	OMIM:615362
HP:0002119	Ventriculomegaly	55790	CSGALNACT1	OMIM:618870
HP:0002119	Ventriculomegaly	51111	KMT5B	OMIM:617788
HP:0002119	Ventriculomegaly	478	ATP1A3	OMIM:619606
HP:0002119	Ventriculomegaly	10730	YME1L1	OMIM:617302
HP:0002119	Ventriculomegaly	84520	GON7	OMIM:619603
HP:0002119	Ventriculomegaly	51112	TRAPPC12	OMIM:617669
HP:0002119	Ventriculomegaly	51112	TRAPPC12	ORPHA:500144
HP:0002119	Ventriculomegaly	55768	NGLY1	ORPHA:404454
HP:0002119	Ventriculomegaly	1161	ERCC8	OMIM:216400
HP:0002119	Ventriculomegaly	100996717	NOTCH2NLC	OMIM:603472
HP:0002119	Ventriculomegaly	137492	VPS37A	ORPHA:319199
HP:0002119	Ventriculomegaly	23250	ATP11A	OMIM:619851
HP:0002119	Ventriculomegaly	3190	HNRNPK	OMIM:616580
HP:0002119	Ventriculomegaly	284058	KANSL1	ORPHA:363958
HP:0002119	Ventriculomegaly	284058	KANSL1	OMIM:610443
HP:0002119	Ventriculomegaly	284058	KANSL1	ORPHA:363965
HP:0002119	Ventriculomegaly	113189	CHST14	ORPHA:2953
HP:0002119	Ventriculomegaly	113189	CHST14	OMIM:601776
HP:0002119	Ventriculomegaly	29940	DSE	ORPHA:2953
HP:0002119	Ventriculomegaly	9968	MED12	ORPHA:93932
HP:0002119	Ventriculomegaly	2261	FGFR3	ORPHA:1860
HP:0002119	Ventriculomegaly	2261	FGFR3	ORPHA:93274
HP:0002119	Ventriculomegaly	2261	FGFR3	OMIM:187601
HP:0002119	Ventriculomegaly	9326	ZNHIT3	ORPHA:2836
HP:0002119	Ventriculomegaly	547	KIF1A	ORPHA:2836
HP:0002119	Ventriculomegaly	5155	PDGFB	ORPHA:1980
HP:0002119	Ventriculomegaly	9213	XPR1	ORPHA:1980
HP:0002119	Ventriculomegaly	5159	PDGFRB	ORPHA:1980
HP:0002119	Ventriculomegaly	57462	MYORG	ORPHA:1980
HP:0002119	Ventriculomegaly	6575	SLC20A2	ORPHA:1980
HP:0002119	Ventriculomegaly	58494	JAM2	ORPHA:1980
HP:0002119	Ventriculomegaly	1183	CLCN4	ORPHA:485350
HP:0002119	Ventriculomegaly	2074	ERCC6	OMIM:278800
HP:0002119	Ventriculomegaly	2074	ERCC6	OMIM:214150
HP:0002119	Ventriculomegaly	652	BMP4	OMIM:607932
HP:0002119	Ventriculomegaly	22872	SEC31A	OMIM:618651
HP:0002119	Ventriculomegaly	5442	POLRMT	OMIM:619743
HP:0002119	Ventriculomegaly	57178	ZMIZ1	OMIM:618659
HP:0002119	Ventriculomegaly	3340	NDST1	OMIM:616116
HP:0002119	Ventriculomegaly	93627	TBCK	ORPHA:488632
HP:0002119	Ventriculomegaly	93627	TBCK	OMIM:616900
HP:0002119	Ventriculomegaly	2783	GNB2	OMIM:619503
HP:0002119	Ventriculomegaly	26040	SETBP1	OMIM:269150
HP:0002119	Ventriculomegaly	26040	SETBP1	ORPHA:798
HP:0002119	Ventriculomegaly	54	ACP5	ORPHA:1855
HP:0002119	Ventriculomegaly	1499	CTNNB1	ORPHA:404473
HP:0002119	Ventriculomegaly	5518	PPP2R1A	OMIM:616362
HP:0002119	Ventriculomegaly	5518	PPP2R1A	ORPHA:457284
HP:0002119	Ventriculomegaly	10717	AP4B1	OMIM:614066
HP:0002119	Ventriculomegaly	6905	TBCE	OMIM:241410
HP:0002119	Ventriculomegaly	6905	TBCE	ORPHA:2323
HP:0002119	Ventriculomegaly	84879	MFSD2A	OMIM:616486
HP:0002119	Ventriculomegaly	84879	MFSD2A	ORPHA:2512
HP:0002119	Ventriculomegaly	51633	OTUD6B	OMIM:617452
HP:0002119	Ventriculomegaly	51633	OTUD6B	ORPHA:505237
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	ORPHA:217385
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	ORPHA:95232
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	OMIM:607432
HP:0002119	Ventriculomegaly	7531	YWHAE	ORPHA:217385
HP:0002119	Ventriculomegaly	131405	TRIM71	OMIM:618667
HP:0002119	Ventriculomegaly	3098	HK1	OMIM:618547
HP:0002119	Ventriculomegaly	9091	PIGQ	OMIM:618548
HP:0002119	Ventriculomegaly	5590	PRKCZ	ORPHA:1606
HP:0002119	Ventriculomegaly	2563	GABRD	ORPHA:1606
HP:0002119	Ventriculomegaly	23013	SPEN	ORPHA:1606
HP:0002119	Ventriculomegaly	8510	MMP23B	ORPHA:1606
HP:0002119	Ventriculomegaly	7798	LUZP1	ORPHA:1606
HP:0002119	Ventriculomegaly	6497	SKI	ORPHA:1606
HP:0002119	Ventriculomegaly	6497	SKI	ORPHA:2462
HP:0002119	Ventriculomegaly	10630	PDPN	ORPHA:1606
HP:0002119	Ventriculomegaly	3339	HSPG2	ORPHA:1606
HP:0002119	Ventriculomegaly	10277	UBE4B	ORPHA:1606
HP:0002119	Ventriculomegaly	8514	KCNAB2	ORPHA:1606
HP:0002119	Ventriculomegaly	473	RERE	ORPHA:1606
HP:0002119	Ventriculomegaly	473	RERE	ORPHA:494344
HP:0002119	Ventriculomegaly	473	RERE	OMIM:616975
HP:0002119	Ventriculomegaly	63976	PRDM16	ORPHA:1606
HP:0002119	Ventriculomegaly	54897	CASZ1	ORPHA:1606
HP:0002119	Ventriculomegaly	1859	DYRK1A	ORPHA:464311
HP:0002119	Ventriculomegaly	1859	DYRK1A	ORPHA:268261
HP:0002119	Ventriculomegaly	5728	PTEN	ORPHA:101070
HP:0002119	Ventriculomegaly	285362	SUMF1	OMIM:272200
HP:0002119	Ventriculomegaly	2203	FBP1	ORPHA:348
HP:0002119	Ventriculomegaly	26137	ZBTB20	OMIM:259050
HP:0002119	Ventriculomegaly	30813	VSX1	OMIM:614195
HP:0002119	Ventriculomegaly	5621	PRNP	ORPHA:157941
HP:0002119	Ventriculomegaly	7358	UGDH	OMIM:618792
HP:0002119	Ventriculomegaly	113179	ADAT3	OMIM:615286
HP:0002119	Ventriculomegaly	2263	FGFR2	ORPHA:168624
HP:0002119	Ventriculomegaly	2263	FGFR2	OMIM:123790
HP:0002119	Ventriculomegaly	2263	FGFR2	OMIM:101200
HP:0002119	Ventriculomegaly	2263	FGFR2	ORPHA:87
HP:0002119	Ventriculomegaly	476	ATP1A1	OMIM:618314
HP:0002119	Ventriculomegaly	200424	TET3	OMIM:618798
HP:0002119	Ventriculomegaly	10297	APC2	OMIM:618677
HP:0002119	Ventriculomegaly	10297	APC2	ORPHA:821
HP:0002119	Ventriculomegaly	9562	MINPP1	OMIM:619527
HP:0002119	Ventriculomegaly	79633	FAT4	ORPHA:314679
HP:0002119	Ventriculomegaly	8642	DCHS1	ORPHA:314679
HP:0002119	Ventriculomegaly	6925	TCF4	OMIM:610954
HP:0002119	Ventriculomegaly	57688	ZSWIM6	OMIM:603671
HP:0002119	Ventriculomegaly	57688	ZSWIM6	ORPHA:1827
HP:0002119	Ventriculomegaly	2271	FH	OMIM:606812
HP:0002119	Ventriculomegaly	55739	NAXD	OMIM:618321
HP:0002119	Ventriculomegaly	4123	MAN2C1	OMIM:619775
HP:0002119	Ventriculomegaly	54941	RNF125	OMIM:616260
HP:0002119	Ventriculomegaly	8565	YARS1	OMIM:619418
HP:0002119	Ventriculomegaly	84168	ANTXR1	OMIM:230740
HP:0002119	Ventriculomegaly	23219	FBXO28	OMIM:619777
HP:0002119	Ventriculomegaly	1107	CHD3	OMIM:618205
HP:0002119	Ventriculomegaly	23189	KANK1	OMIM:612900
HP:0002119	Ventriculomegaly	51322	WAC	ORPHA:466950
HP:0002119	Ventriculomegaly	51322	WAC	ORPHA:284169
HP:0002119	Ventriculomegaly	404672	GTF2H5	ORPHA:33364
HP:0002119	Ventriculomegaly	833	CARS1	ORPHA:33364
HP:0002119	Ventriculomegaly	2068	ERCC2	ORPHA:33364
HP:0002119	Ventriculomegaly	136647	MPLKIP	ORPHA:33364
HP:0002119	Ventriculomegaly	6897	TARS1	ORPHA:33364
HP:0002119	Ventriculomegaly	2071	ERCC3	ORPHA:33364
HP:0002119	Ventriculomegaly	2071	ERCC3	OMIM:610651
HP:0002119	Ventriculomegaly	2961	GTF2E2	ORPHA:33364
HP:0002119	Ventriculomegaly	2072	ERCC4	OMIM:610965
HP:0002119	Ventriculomegaly	2072	ERCC4	ORPHA:84
HP:0002119	Ventriculomegaly	8813	DPM1	ORPHA:79322
HP:0002119	Ventriculomegaly	9526	MPDU1	ORPHA:79323
HP:0002119	Ventriculomegaly	9526	MPDU1	OMIM:609180
HP:0002119	Ventriculomegaly	79087	ALG12	ORPHA:79324
HP:0002119	Ventriculomegaly	79053	ALG8	ORPHA:79325
HP:0002119	Ventriculomegaly	286204	CRB2	OMIM:219730
HP:0002119	Ventriculomegaly	25981	DNAH1	ORPHA:244
HP:0002119	Ventriculomegaly	115948	ODAD3	ORPHA:244
HP:0002119	Ventriculomegaly	54768	HYDIN	ORPHA:244
HP:0002119	Ventriculomegaly	352909	DNAAF3	ORPHA:244
HP:0002119	Ventriculomegaly	27148	STK36	ORPHA:244
HP:0002119	Ventriculomegaly	51314	NME8	ORPHA:244
HP:0002119	Ventriculomegaly	92749	DRC1	ORPHA:244
HP:0002119	Ventriculomegaly	54970	TTC12	ORPHA:244
HP:0002119	Ventriculomegaly	152110	NEK10	ORPHA:244
HP:0002119	Ventriculomegaly	2302	FOXJ1	ORPHA:244
HP:0002119	Ventriculomegaly	221421	RSPH9	ORPHA:244
HP:0002119	Ventriculomegaly	85478	CCDC65	ORPHA:244
HP:0002119	Ventriculomegaly	55036	CCDC40	ORPHA:244
HP:0002119	Ventriculomegaly	51364	ZMYND10	ORPHA:244
HP:0002119	Ventriculomegaly	64446	DNAI2	ORPHA:244
HP:0002119	Ventriculomegaly	6674	SPAG1	ORPHA:244
HP:0002119	Ventriculomegaly	83544	DNAL1	ORPHA:244
HP:0002119	Ventriculomegaly	89765	RSPH1	ORPHA:244
HP:0002119	Ventriculomegaly	83538	ODAD4	ORPHA:244
HP:0002119	Ventriculomegaly	200373	CFAP221	ORPHA:244
HP:0002119	Ventriculomegaly	374407	DNAJB13	ORPHA:244
HP:0002119	Ventriculomegaly	55172	DNAAF2	ORPHA:244
HP:0002119	Ventriculomegaly	161582	DNAAF4	ORPHA:244
HP:0002119	Ventriculomegaly	2622	GAS8	ORPHA:244
HP:0002119	Ventriculomegaly	23639	DNAAF11	ORPHA:244
HP:0002119	Ventriculomegaly	27019	DNAI1	ORPHA:244
HP:0002119	Ventriculomegaly	345895	RSPH4A	ORPHA:244
HP:0002119	Ventriculomegaly	54919	DNAAF5	ORPHA:244
HP:0002119	Ventriculomegaly	6103	RPGR	ORPHA:244
HP:0002119	Ventriculomegaly	388389	CCDC103	ORPHA:244
HP:0002119	Ventriculomegaly	93233	ODAD1	ORPHA:244
HP:0002119	Ventriculomegaly	55130	ODAD2	ORPHA:244
HP:0002119	Ventriculomegaly	1767	DNAH5	ORPHA:244
HP:0002119	Ventriculomegaly	83861	RSPH3	ORPHA:244
HP:0002119	Ventriculomegaly	345643	MCIDAS	ORPHA:244
HP:0002119	Ventriculomegaly	56683	CFAP298	ORPHA:244
HP:0002119	Ventriculomegaly	79925	SPEF2	ORPHA:244
HP:0002119	Ventriculomegaly	10309	CCNO	ORPHA:244
HP:0002119	Ventriculomegaly	115399	LRRC56	ORPHA:244
HP:0002119	Ventriculomegaly	139212	DNAAF6	ORPHA:244
HP:0002119	Ventriculomegaly	123872	DNAAF1	ORPHA:244
HP:0002119	Ventriculomegaly	85016	CFAP300	ORPHA:244
HP:0002119	Ventriculomegaly	339829	CCDC39	ORPHA:244
HP:0002119	Ventriculomegaly	8701	DNAH11	ORPHA:244
HP:0002119	Ventriculomegaly	1770	DNAH9	ORPHA:244
HP:0002119	Ventriculomegaly	246176	GAS2L2	ORPHA:244
HP:0002119	Ventriculomegaly	3897	L1CAM	OMIM:304100
HP:0002119	Ventriculomegaly	3897	L1CAM	ORPHA:2466
HP:0002119	Ventriculomegaly	3897	L1CAM	OMIM:303350
HP:0002119	Ventriculomegaly	25970	SH2B1	ORPHA:261197
HP:0002119	Ventriculomegaly	8295	TRRAP	OMIM:618454
HP:0002119	Ventriculomegaly	6576	SLC25A1	OMIM:615182
HP:0002119	Ventriculomegaly	9742	IFT140	OMIM:266920
HP:0002119	Ventriculomegaly	5881	RAC3	OMIM:618577
HP:0002119	Ventriculomegaly	133686	NADK2	OMIM:616034
HP:0002119	Ventriculomegaly	133686	NADK2	ORPHA:431361
HP:0002119	Ventriculomegaly	27429	HTRA2	OMIM:617248
HP:0002119	Ventriculomegaly	389827	MYMK	OMIM:254940
HP:0002119	Ventriculomegaly	389827	MYMK	ORPHA:1358
HP:0002119	Ventriculomegaly	8803	SUCLA2	ORPHA:1933
HP:0002119	Ventriculomegaly	22827	PUF60	ORPHA:508498
HP:0002119	Ventriculomegaly	9488	PIGB	OMIM:618580
HP:0002119	Ventriculomegaly	8925	HERC1	OMIM:617011
HP:0002119	Ventriculomegaly	8925	HERC1	ORPHA:457359
HP:0002119	Ventriculomegaly	1281	COL3A1	OMIM:618343
HP:0002119	Ventriculomegaly	4728	NDUFS8	OMIM:618222
HP:0002119	Ventriculomegaly	2775	GNAO1	OMIM:617493
HP:0002119	Ventriculomegaly	9759	HDAC4	OMIM:619797
HP:0002119	Ventriculomegaly	30000	TNPO2	OMIM:619556
HP:0002119	Ventriculomegaly	54892	NCAPG2	OMIM:618460
HP:0002119	Ventriculomegaly	160418	TMTC3	OMIM:617255
HP:0002119	Ventriculomegaly	2187	FANCB	OMIM:300514
HP:0002119	Ventriculomegaly	2187	FANCB	ORPHA:84
HP:0002119	Ventriculomegaly	54517	PUS7	OMIM:618342
HP:0002119	Ventriculomegaly	92335	STRADA	ORPHA:500533
HP:0002119	Ventriculomegaly	92335	STRADA	OMIM:611087
HP:0002119	Ventriculomegaly	4967	OGDH	OMIM:203740
HP:0002119	Ventriculomegaly	4720	NDUFS2	OMIM:618228
HP:0002119	Ventriculomegaly	4720	NDUFS2	ORPHA:70474
HP:0002119	Ventriculomegaly	79813	EHMT1	ORPHA:96147
HP:0002119	Ventriculomegaly	79813	EHMT1	ORPHA:261652
HP:0002119	Ventriculomegaly	10102	TSFM	OMIM:610505
HP:0002119	Ventriculomegaly	170302	ARX	OMIM:308350
HP:0002119	Ventriculomegaly	170302	ARX	ORPHA:452
HP:0002119	Ventriculomegaly	170302	ARX	OMIM:300215
HP:0002119	Ventriculomegaly	7681	MKRN3	OMIM:176270
HP:0002119	Ventriculomegaly	3653	IPW	OMIM:176270
HP:0002119	Ventriculomegaly	54551	MAGEL2	OMIM:176270
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:398069
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:98754
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:177904
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:177901
HP:0002119	Ventriculomegaly	791114	PWRN1	OMIM:176270
HP:0002119	Ventriculomegaly	100033413	SNORD116-1	OMIM:176270
HP:0002119	Ventriculomegaly	8924	HERC2	OMIM:176270
HP:0002119	Ventriculomegaly	145624	PWAR1	OMIM:176270
HP:0002119	Ventriculomegaly	23742	NPAP1	OMIM:176270
HP:0002119	Ventriculomegaly	338433	SNORD115-1	OMIM:176270
HP:0002119	Ventriculomegaly	7707	ZNF148	OMIM:617260
HP:0002119	Ventriculomegaly	55869	HDAC8	OMIM:300882
HP:0002119	Ventriculomegaly	55869	HDAC8	ORPHA:199
HP:0002119	Ventriculomegaly	5515	PPP2CA	OMIM:618354
HP:0002119	Ventriculomegaly	26275	HIBCH	ORPHA:88639
HP:0002119	Ventriculomegaly	650	BMP2	ORPHA:261295
HP:0002119	Ventriculomegaly	23102	TBC1D2B	OMIM:619323
HP:0002119	Ventriculomegaly	57520	HECW2	OMIM:617268
HP:0002119	Ventriculomegaly	51601	LIPT1	OMIM:616299
HP:0002119	Ventriculomegaly	10659	CELF2	OMIM:619561
HP:0002119	Ventriculomegaly	6492	SIM1	ORPHA:398079
HP:0002119	Ventriculomegaly	27185	DISC1	ORPHA:171703
HP:0002119	Ventriculomegaly	8320	EOMES	ORPHA:171703
HP:0002119	Ventriculomegaly	1654	DDX3X	ORPHA:457260
HP:0002119	Ventriculomegaly	1654	DDX3X	OMIM:300958
HP:0002119	Ventriculomegaly	23729	SHPK	ORPHA:440713
HP:0002119	Ventriculomegaly	5080	PAX6	ORPHA:137902
HP:0002119	Ventriculomegaly	5080	PAX6	OMIM:120200
HP:0002119	Ventriculomegaly	26128	KIFBP	ORPHA:66629
HP:0002119	Ventriculomegaly	5660	PSAP	OMIM:611722
HP:0002119	Ventriculomegaly	4952	OCRL	ORPHA:534
HP:0002119	Ventriculomegaly	4952	OCRL	OMIM:309000
HP:0002119	Ventriculomegaly	9179	AP4M1	OMIM:612936
HP:0002119	Ventriculomegaly	3417	IDH1	ORPHA:99646
HP:0002119	Ventriculomegaly	3192	HNRNPU	OMIM:617391
HP:0002119	Ventriculomegaly	3192	HNRNPU	ORPHA:238769
HP:0002119	Ventriculomegaly	23221	RHOBTB2	OMIM:618004
HP:0002119	Ventriculomegaly	79641	ROGDI	OMIM:226750
HP:0002119	Ventriculomegaly	55572	FOXRED1	OMIM:618241
HP:0002119	Ventriculomegaly	8260	NAA10	OMIM:300855
HP:0002119	Ventriculomegaly	8260	NAA10	ORPHA:276432
HP:0002119	Ventriculomegaly	1108	CHD4	OMIM:617159
HP:0002119	Ventriculomegaly	26999	CYFIP2	OMIM:618008
HP:0002119	Ventriculomegaly	51608	GET4	OMIM:620200
HP:0002119	Ventriculomegaly	2898	GRIK2	OMIM:619580
HP:0002119	Ventriculomegaly	191	AHCY	ORPHA:88618
HP:0002119	Ventriculomegaly	1760	DMPK	ORPHA:589821
HP:0002119	Ventriculomegaly	633	BGN	OMIM:300989
HP:0002119	Ventriculomegaly	51300	TIMMDC1	OMIM:618251
HP:0002119	Ventriculomegaly	4700	NDUFA6	OMIM:618253
HP:0002119	Ventriculomegaly	2475	MTOR	ORPHA:457485
HP:0002119	Ventriculomegaly	2475	MTOR	ORPHA:99802
HP:0002119	Ventriculomegaly	2475	MTOR	OMIM:616638
HP:0002119	Ventriculomegaly	8635	RNASET2	OMIM:612951
HP:0002119	Ventriculomegaly	220296	HEPACAM	OMIM:613925
HP:0002119	Ventriculomegaly	8883	NAE1	OMIM:620210
HP:0002119	Ventriculomegaly	60386	SLC25A19	ORPHA:99742
HP:0002119	Ventriculomegaly	79718	TBL1XR1	ORPHA:487825
HP:0002119	Ventriculomegaly	50801	KCNK4	OMIM:618381
HP:0002119	Ventriculomegaly	9791	PTDSS1	OMIM:151050
HP:0002119	Ventriculomegaly	11212	PLPBP	OMIM:617290
HP:0002119	Ventriculomegaly	11212	PLPBP	ORPHA:3006
HP:0002119	Ventriculomegaly	51241	COX16	OMIM:619355
HP:0002119	Ventriculomegaly	57187	THOC2	OMIM:300957
HP:0002119	Ventriculomegaly	27107	ZBTB11	OMIM:618383
HP:0002119	Ventriculomegaly	28962	OSTM1	ORPHA:85179
HP:0002119	Ventriculomegaly	28962	OSTM1	OMIM:259720
HP:0002119	Ventriculomegaly	145173	B3GLCT	OMIM:261540
HP:0002119	Ventriculomegaly	145173	B3GLCT	ORPHA:709
HP:0002119	Ventriculomegaly	6711	SPTBN1	OMIM:619475
HP:0002119	Ventriculomegaly	57514	ARHGAP31	OMIM:100300
HP:0002119	Ventriculomegaly	3839	KPNA3	OMIM:620106
HP:0002119	Ventriculomegaly	4983	OPHN1	ORPHA:137831
HP:0002119	Ventriculomegaly	4983	OPHN1	OMIM:300486
HP:0002119	Ventriculomegaly	80036	TRPM3	OMIM:620224
HP:0002119	Ventriculomegaly	2131	EXT1	ORPHA:502
HP:0002119	Ventriculomegaly	7227	TRPS1	ORPHA:502
HP:0002119	Ventriculomegaly	25839	COG4	OMIM:618150
HP:0002119	Ventriculomegaly	51360	MBTPS2	OMIM:308205
HP:0002119	Ventriculomegaly	5290	PIK3CA	OMIM:602501
HP:0002119	Ventriculomegaly	5290	PIK3CA	ORPHA:99802
HP:0002119	Ventriculomegaly	5290	PIK3CA	ORPHA:60040
HP:0002119	Ventriculomegaly	6872	TAF1	OMIM:300966
HP:0002119	Ventriculomegaly	374354	NHLRC2	OMIM:618278
HP:0002119	Ventriculomegaly	374879	ZNF699	OMIM:619488
HP:0002119	Ventriculomegaly	128240	NAXE	OMIM:617186
HP:0002119	Ventriculomegaly	22983	MAST1	OMIM:618273
HP:0002119	Ventriculomegaly	6472	SHMT2	OMIM:619121
HP:0002119	Ventriculomegaly	29123	ANKRD11	ORPHA:261250
HP:0002119	Ventriculomegaly	9373	PLAA	ORPHA:521426
HP:0002119	Ventriculomegaly	9373	PLAA	OMIM:617527
HP:0002119	Ventriculomegaly	1759	DNM1	OMIM:620352
HP:0002119	Ventriculomegaly	55252	ASXL2	OMIM:617190
HP:0002119	Ventriculomegaly	6904	TBCD	OMIM:617193
HP:0002119	Ventriculomegaly	2629	GBA1	ORPHA:2072
HP:0002119	Ventriculomegaly	2629	GBA1	OMIM:608013
HP:0002119	Ventriculomegaly	340533	NEXMIF	ORPHA:85277
HP:0002119	Ventriculomegaly	10479	SLC9A6	ORPHA:85278
HP:0002119	Ventriculomegaly	84231	TRAF7	OMIM:618164
HP:0002119	Ventriculomegaly	4781	NFIB	OMIM:618286
HP:0002119	Ventriculomegaly	54187	NANS	OMIM:610442
HP:0002119	Ventriculomegaly	3295	HSD17B4	OMIM:261515
HP:0002119	Ventriculomegaly	4508	MT-ATP6	ORPHA:644
HP:0002119	Ventriculomegaly	5727	PTCH1	ORPHA:77301
HP:0002119	Ventriculomegaly	57538	ALPK3	OMIM:618052
HP:0002119	Ventriculomegaly	129285	PPP1R21	OMIM:619383
HP:0002119	Ventriculomegaly	221692	PHACTR1	OMIM:618298
HP:0002119	Ventriculomegaly	10535	RNASEH2A	OMIM:610333
HP:0002119	Ventriculomegaly	10535	RNASEH2A	ORPHA:51
HP:0002119	Ventriculomegaly	3708	ITPR1	OMIM:206700
HP:0002119	Ventriculomegaly	5138	PDE2A	OMIM:619150
HP:0002119	Ventriculomegaly	11113	CIT	OMIM:617090
HP:0002119	Ventriculomegaly	11113	CIT	ORPHA:2512
HP:0002119	Ventriculomegaly	4702	NDUFA8	OMIM:619272
HP:0002119	Ventriculomegaly	8243	SMC1A	OMIM:300590
HP:0002119	Ventriculomegaly	8243	SMC1A	ORPHA:199
HP:0002119	Ventriculomegaly	2294	FOXF1	OMIM:265380
HP:0002119	Ventriculomegaly	8450	CUL4B	OMIM:300354
HP:0002119	Ventriculomegaly	55503	TRPV6	OMIM:618188
HP:0002119	Ventriculomegaly	83700	JAM3	OMIM:613730
HP:0002119	Ventriculomegaly	5885	RAD21	OMIM:614701
HP:0002119	Ventriculomegaly	5885	RAD21	ORPHA:199
HP:0002119	Ventriculomegaly	54820	NDE1	ORPHA:2177
HP:0002119	Ventriculomegaly	54820	NDE1	OMIM:605013
HP:0002119	Ventriculomegaly	4774	NFIA	OMIM:613735
HP:0002119	Ventriculomegaly	4774	NFIA	ORPHA:401986
HP:0002119	Ventriculomegaly	10667	FARS2	OMIM:614946
HP:0002119	Ventriculomegaly	8496	PPFIBP1	OMIM:620024
HP:0002119	Ventriculomegaly	64324	NSD1	ORPHA:821
HP:0002119	Ventriculomegaly	64324	NSD1	OMIM:117550
HP:0002119	Ventriculomegaly	29072	SETD2	ORPHA:821
HP:0002119	Ventriculomegaly	29072	SETD2	OMIM:616831
HP:0002119	Ventriculomegaly	80232	WDR26	ORPHA:513456
HP:0002119	Ventriculomegaly	80232	WDR26	OMIM:617616
HP:0002119	Ventriculomegaly	89910	UBE3B	OMIM:244450
HP:0002119	Ventriculomegaly	4552	MTRR	ORPHA:2169
HP:0002119	Ventriculomegaly	22858	CILK1	OMIM:612651
HP:0002119	Ventriculomegaly	2314	FLII	ORPHA:819
HP:0002119	Ventriculomegaly	23096	IQSEC2	ORPHA:819
HP:0002119	Ventriculomegaly	10743	RAI1	ORPHA:819
HP:0002119	Ventriculomegaly	10743	RAI1	OMIM:182290
HP:0002119	Ventriculomegaly	10522	DEAF1	ORPHA:819
HP:0002119	Ventriculomegaly	23431	AP4E1	OMIM:613744
HP:0002119	Ventriculomegaly	10000	AKT3	ORPHA:99802
HP:0002119	Ventriculomegaly	10000	AKT3	OMIM:615937
HP:0002119	Ventriculomegaly	10978	CLP1	OMIM:615803
HP:0002119	Ventriculomegaly	26153	KIF26A	OMIM:620156
HP:0002119	Ventriculomegaly	271	AMPD2	OMIM:615809
HP:0002119	Ventriculomegaly	1340	COX6B1	OMIM:619051
HP:0002119	Ventriculomegaly	6197	RPS6KA3	OMIM:303600
HP:0002119	Ventriculomegaly	6197	RPS6KA3	ORPHA:192
HP:0002119	Ventriculomegaly	4001	LMNB1	OMIM:619179
HP:0002119	Ventriculomegaly	2892	GRIA3	OMIM:300699
HP:0002119	Ventriculomegaly	1351	COX8A	OMIM:619059
HP:0002119	Ventriculomegaly	3064	HTT	ORPHA:248111
HP:0002119	Ventriculomegaly	114034	TOE1	OMIM:614969
HP:0002119	Ventriculomegaly	894	CCND2	OMIM:615938
HP:0002119	Ventriculomegaly	9570	GOSR2	OMIM:620166
HP:0002119	Ventriculomegaly	672	BRCA1	ORPHA:84
HP:0002119	Ventriculomegaly	10459	MAD2L2	ORPHA:84
HP:0002119	Ventriculomegaly	7516	XRCC2	ORPHA:84
HP:0002119	Ventriculomegaly	29089	UBE2T	ORPHA:84
HP:0002119	Ventriculomegaly	675	BRCA2	ORPHA:84
HP:0002119	Ventriculomegaly	55120	FANCL	ORPHA:84
HP:0002119	Ventriculomegaly	2177	FANCD2	ORPHA:84
HP:0002119	Ventriculomegaly	2175	FANCA	ORPHA:84
HP:0002119	Ventriculomegaly	2176	FANCC	ORPHA:84
HP:0002119	Ventriculomegaly	2178	FANCE	ORPHA:84
HP:0002119	Ventriculomegaly	2188	FANCF	ORPHA:84
HP:0002119	Ventriculomegaly	2189	FANCG	ORPHA:84
HP:0002119	Ventriculomegaly	5888	RAD51	ORPHA:84
HP:0002119	Ventriculomegaly	5889	RAD51C	ORPHA:84
HP:0002119	Ventriculomegaly	83990	BRIP1	ORPHA:84
HP:0002119	Ventriculomegaly	57697	FANCM	ORPHA:84
HP:0002119	Ventriculomegaly	79728	PALB2	ORPHA:84
HP:0002119	Ventriculomegaly	84464	SLX4	ORPHA:84
HP:0002119	Ventriculomegaly	55215	FANCI	ORPHA:84
HP:0002119	Ventriculomegaly	501	ALDH7A1	ORPHA:3006
HP:0002119	Ventriculomegaly	84823	LMNB2	OMIM:619180
HP:0002119	Ventriculomegaly	84823	LMNB2	OMIM:616540
HP:0002119	Ventriculomegaly	23036	ZNF292	OMIM:619188
HP:0002119	Ventriculomegaly	4591	TRIM37	OMIM:253250
HP:0002119	Ventriculomegaly	84342	COG8	ORPHA:95428
HP:0002119	Ventriculomegaly	84342	COG8	OMIM:611182
HP:0002119	Ventriculomegaly	11284	PNKP	OMIM:613402
HP:0002119	Ventriculomegaly	4338	MOCS2	OMIM:252160
HP:0002119	Ventriculomegaly	25942	SIN3A	OMIM:613406
HP:0002119	Ventriculomegaly	25942	SIN3A	ORPHA:500166
HP:0002119	Ventriculomegaly	53834	FGFRL1	OMIM:194190
HP:0002119	Ventriculomegaly	1487	CTBP1	OMIM:194190
HP:0002119	Ventriculomegaly	3954	LETM1	OMIM:194190
HP:0002119	Ventriculomegaly	7468	NSD2	OMIM:194190
HP:0002119	Ventriculomegaly	10815	CPLX1	OMIM:194190
HP:0002119	Ventriculomegaly	2615	LRRC32	OMIM:619074
HP:0002119	Ventriculomegaly	6608	SMO	OMIM:601707
HP:0002119	Ventriculomegaly	6608	SMO	ORPHA:1553
HP:0002119	Ventriculomegaly	79753	SNIP1	OMIM:614501
HP:0002119	Ventriculomegaly	84720	PIGO	OMIM:614749
HP:0002119	Ventriculomegaly	83475	DOHH	OMIM:620066
HP:0002119	Ventriculomegaly	79228	THOC6	ORPHA:363444
HP:0002119	Ventriculomegaly	58508	KMT2C	ORPHA:261652
HP:0002119	Ventriculomegaly	4094	MAF	ORPHA:1272
HP:0002119	Ventriculomegaly	10436	EMG1	ORPHA:1270
HP:0002119	Ventriculomegaly	9896	FIG4	OMIM:612691
HP:0002119	Ventriculomegaly	9568	GABBR2	OMIM:617903
HP:0002119	Ventriculomegaly	9568	GABBR2	OMIM:617904
HP:0002119	Ventriculomegaly	54499	TMCO1	ORPHA:1394
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:98754
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:177904
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:177901
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:98754
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:177904
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:177901
HP:0002119	Ventriculomegaly	23483	TGDS	ORPHA:1388
HP:0002119	Ventriculomegaly	55275	VPS53	OMIM:615851
HP:0002119	Ventriculomegaly	440193	CCDC88C	OMIM:236600
HP:0002119	Ventriculomegaly	64116	SLC39A8	ORPHA:468699
HP:0002119	Ventriculomegaly	51750	RTEL1	ORPHA:3322
HP:0002119	Ventriculomegaly	65057	ACD	ORPHA:3322
HP:0002119	Ventriculomegaly	5073	PARN	ORPHA:3322
HP:0002119	Ventriculomegaly	7015	TERT	ORPHA:3322
HP:0002119	Ventriculomegaly	26277	TINF2	ORPHA:3322
HP:0002119	Ventriculomegaly	1736	DKC1	ORPHA:3322
HP:0002119	Ventriculomegaly	63925	ZNF335	ORPHA:329228
HP:0002119	Ventriculomegaly	9276	COPB2	OMIM:617800
HP:0002119	Ventriculomegaly	9276	COPB2	ORPHA:2512
HP:0002119	Ventriculomegaly	80199	FUZ	ORPHA:1136
HP:0002119	Ventriculomegaly	22907	DHX30	OMIM:617804
HP:0002119	Ventriculomegaly	10664	CTCF	OMIM:615502
HP:0002119	Ventriculomegaly	10664	CTCF	ORPHA:363611
HP:0002119	Ventriculomegaly	2200	FBN1	ORPHA:2462
HP:0002119	Ventriculomegaly	9230	RAB11B	OMIM:617807
HP:0002119	Ventriculomegaly	90417	KNSTRN	OMIM:613328
HP:0002119	Ventriculomegaly	90417	KNSTRN	ORPHA:221139
HP:0002119	Ventriculomegaly	5293	PIK3CD	OMIM:613328
HP:0002119	Ventriculomegaly	5293	PIK3CD	ORPHA:221139
HP:0002119	Ventriculomegaly	84153	RNASEH2C	ORPHA:51
HP:0002119	Ventriculomegaly	25939	SAMHD1	ORPHA:51
HP:0002119	Ventriculomegaly	79621	RNASEH2B	ORPHA:51
HP:0002119	Ventriculomegaly	103	ADAR	ORPHA:51
HP:0002119	Ventriculomegaly	11277	TREX1	ORPHA:51
HP:0002119	Ventriculomegaly	134353	LSM11	ORPHA:51
HP:0002119	Ventriculomegaly	64135	IFIH1	ORPHA:51
HP:0002119	Ventriculomegaly	27152	INTU	OMIM:617926
HP:0002119	Ventriculomegaly	10075	HUWE1	OMIM:309590
HP:0002119	Ventriculomegaly	55906	ZC4H2	OMIM:301041
HP:0002119	Ventriculomegaly	26160	IFT172	OMIM:615630
HP:0002119	Ventriculomegaly	11133	KPTN	OMIM:615637
HP:0002119	Ventriculomegaly	85358	SHANK3	OMIM:606232
HP:0002119	Ventriculomegaly	1729	DIAPH1	ORPHA:2573
HP:0002119	Ventriculomegaly	59	ACTA2	ORPHA:2573
HP:0002119	Ventriculomegaly	57674	RNF213	ORPHA:2573
HP:0002119	Ventriculomegaly	50943	FOXP3	OMIM:304790
HP:0002119	Ventriculomegaly	8050	PDHX	ORPHA:255182
HP:0002119	Ventriculomegaly	55593	OTUD5	OMIM:301056
HP:0002119	Ventriculomegaly	57526	PCDH19	OMIM:300088
HP:0002119	Ventriculomegaly	5859	QARS1	OMIM:615760
HP:0002119	Ventriculomegaly	7280	TUBB2A	OMIM:615763
HP:0002119	Ventriculomegaly	10982	MAPRE2	OMIM:616734
HP:0002119	Ventriculomegaly	101929726	MYMX	ORPHA:1358
HP:0002119	Ventriculomegaly	23511	NUP188	OMIM:618804
HP:0002119	Ventriculomegaly	80746	TSEN2	OMIM:612389
HP:0002119	Ventriculomegaly	80746	TSEN2	ORPHA:2524
HP:0002119	Ventriculomegaly	6469	SHH	OMIM:142945
HP:0002119	Ventriculomegaly	10943	MSL3	OMIM:301032
HP:0002119	Ventriculomegaly	8985	PLOD3	OMIM:612394
HP:0002119	Ventriculomegaly	57511	COG6	OMIM:614576
HP:0002119	Ventriculomegaly	55644	OSGEP	OMIM:617729
HP:0002119	Ventriculomegaly	2313	FLI1	ORPHA:2308
HP:0002119	Ventriculomegaly	60	ACTB	OMIM:243310
HP:0002119	Ventriculomegaly	23476	BRD4	ORPHA:199
HP:0002119	Ventriculomegaly	9126	SMC3	ORPHA:199
HP:0002119	Ventriculomegaly	25836	NIPBL	ORPHA:199
HP:0002119	Ventriculomegaly	9997	SCO2	OMIM:604377
HP:0002119	Ventriculomegaly	9997	SCO2	ORPHA:70474
HP:0002119	Ventriculomegaly	71	ACTG1	OMIM:614583
HP:0002119	Ventriculomegaly	9150	CTDP1	ORPHA:48431
HP:0002119	Ventriculomegaly	81689	ISCA1	OMIM:617613
HP:0002119	Ventriculomegaly	22931	RAB18	OMIM:614222
HP:0002119	Ventriculomegaly	4337	MOCS1	OMIM:252150
HP:0002119	Ventriculomegaly	51002	TPRKB	OMIM:617731
HP:0002119	Ventriculomegaly	56270	WDR45B	OMIM:617977
HP:0002119	Ventriculomegaly	54209	TREM2	ORPHA:2770
HP:0002119	Ventriculomegaly	25914	RTTN	ORPHA:468631
HP:0002119	Ventriculomegaly	8936	WASF1	OMIM:618707
HP:0002119	Ventriculomegaly	28514	DLL1	OMIM:618709
HP:0002119	Ventriculomegaly	25915	NDUFAF3	ORPHA:70474
HP:0002119	Ventriculomegaly	4714	NDUFB8	ORPHA:70474
HP:0002119	Ventriculomegaly	6834	SURF1	ORPHA:70474
HP:0002119	Ventriculomegaly	80781	COL18A1	OMIM:267750
HP:0002119	Ventriculomegaly	7343	UBTF	ORPHA:500180
HP:0002119	Ventriculomegaly	5162	PDHB	ORPHA:255138
HP:0002119	Ventriculomegaly	5297	PI4KA	OMIM:616531
HP:0002119	Ventriculomegaly	122553	TRAPPC6B	OMIM:617862
HP:0002119	Ventriculomegaly	112752	IFT43	OMIM:617866
HP:0002119	Ventriculomegaly	10293	TRAIP	OMIM:616777
HP:0002119	Ventriculomegaly	283989	TSEN54	ORPHA:2524
HP:0002119	Ventriculomegaly	116461	TSEN15	ORPHA:2524
HP:0002119	Ventriculomegaly	79042	TSEN34	ORPHA:2524
HP:0002119	Ventriculomegaly	51091	SEPSECS	ORPHA:2524
HP:0002119	Ventriculomegaly	202018	TAPT1	OMIM:616897
HP:0002119	Ventriculomegaly	55704	CCDC88A	OMIM:617507
HP:0002119	Ventriculomegaly	55164	SHQ1	OMIM:619922
HP:0002119	Ventriculomegaly	100506658	OCLN	OMIM:251290
HP:0002119	Ventriculomegaly	113246	C12orf57	OMIM:218340
HP:0002119	Ventriculomegaly	5296	PIK3R2	OMIM:603387
HP:0002119	Ventriculomegaly	259266	ASPM	OMIM:608716
HP:0002119	Ventriculomegaly	259266	ASPM	ORPHA:2512
HP:0002119	Ventriculomegaly	7137	TNNI3	OMIM:115210
HP:0002119	Ventriculomegaly	7518	XRCC4	OMIM:616541
HP:0002119	Ventriculomegaly	440	ASNS	OMIM:615574
HP:0002119	Ventriculomegaly	200205	IBA57	OMIM:615330
HP:0002119	Ventriculomegaly	1284	COL4A2	OMIM:614483
HP:0002119	Ventriculomegaly	5116	PCNT	ORPHA:2637
HP:0002119	Ventriculomegaly	8777	MPDZ	OMIM:615219
HP:0002119	Ventriculomegaly	5430	POLR2A	OMIM:618603
HP:0002119	Ventriculomegaly	9928	KIF14	ORPHA:2512
HP:0002119	Ventriculomegaly	22995	CEP152	ORPHA:2512
HP:0002119	Ventriculomegaly	284403	WDR62	ORPHA:2512
HP:0002119	Ventriculomegaly	55262	TRAPPC14	ORPHA:2512
HP:0002119	Ventriculomegaly	163786	SASS6	ORPHA:2512
HP:0002119	Ventriculomegaly	29920	PYCR2	ORPHA:2512
HP:0002119	Ventriculomegaly	4176	MCM7	ORPHA:2512
HP:0002119	Ventriculomegaly	80254	CEP63	ORPHA:2512
HP:0002119	Ventriculomegaly	29081	METTL5	ORPHA:2512
HP:0002119	Ventriculomegaly	23310	NCAPD3	ORPHA:2512
HP:0002119	Ventriculomegaly	55755	CDK5RAP2	ORPHA:2512
HP:0002119	Ventriculomegaly	79648	MCPH1	ORPHA:2512
HP:0002119	Ventriculomegaly	6491	STIL	ORPHA:2512
HP:0002119	Ventriculomegaly	23141	ANKLE2	ORPHA:2512
HP:0002119	Ventriculomegaly	7109	TRAPPC10	ORPHA:2512
HP:0002119	Ventriculomegaly	1911	PHC1	ORPHA:2512
HP:0002119	Ventriculomegaly	6884	TAF13	ORPHA:2512
HP:0002119	Ventriculomegaly	9662	CEP135	ORPHA:2512
HP:0002119	Ventriculomegaly	55835	CENPJ	ORPHA:2512
HP:0002119	Ventriculomegaly	57082	KNL1	ORPHA:2512
HP:0002119	Ventriculomegaly	1021	CDK6	ORPHA:2512
HP:0002119	Ventriculomegaly	23309	SIN3B	ORPHA:500166
HP:0002119	Ventriculomegaly	1968	EIF2S3	OMIM:300148
HP:0002119	Ventriculomegaly	51075	TMX2	OMIM:618730
HP:0002119	Ventriculomegaly	92935	MARS2	OMIM:616430
HP:0002119	Ventriculomegaly	84148	KAT8	OMIM:618974
HP:0002119	Ventriculomegaly	55753	OGDHL	OMIM:619701
HP:0002119	Ventriculomegaly	3852	KRT5	ORPHA:79396
HP:0002119	Ventriculomegaly	3861	KRT14	ORPHA:79396
HP:0002119	Ventriculomegaly	58499	ZNF462	OMIM:618619
HP:0002119	Ventriculomegaly	246329	STAC3	OMIM:255995
HP:0002119	Ventriculomegaly	9990	SLC12A6	OMIM:218000
HP:0002119	Ventriculomegaly	7846	TUBA1A	ORPHA:171680
HP:0002119	Ventriculomegaly	4287	ATXN3	OMIM:109150
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276244
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276241
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276238
HP:0002119	Ventriculomegaly	203068	TUBB	OMIM:615771
HP:0002119	Ventriculomegaly	116228	COX20	OMIM:619054
HP:0002119	Ventriculomegaly	123606	NIPA1	ORPHA:261183
HP:0002119	Ventriculomegaly	7283	TUBG1	ORPHA:261183
HP:0002119	Ventriculomegaly	81614	NIPA2	ORPHA:261183
HP:0002119	Ventriculomegaly	8573	CASK	OMIM:300749
HP:0002119	Ventriculomegaly	267010	RNU12	OMIM:620208
HP:0002119	Ventriculomegaly	4361	MRE11	ORPHA:251347
HP:0002119	Ventriculomegaly	8239	USP9X	ORPHA:480880
HP:0002119	Ventriculomegaly	23203	PMPCA	OMIM:213200
HP:0002119	Ventriculomegaly	23203	PMPCA	ORPHA:1170
HP:0002119	Ventriculomegaly	29925	GMPPB	ORPHA:370959
HP:0002119	Ventriculomegaly	79147	FKRP	ORPHA:370959
HP:0002119	Ventriculomegaly	29954	POMT2	ORPHA:370959
HP:0002119	Ventriculomegaly	84197	POMK	ORPHA:370959
HP:0002119	Ventriculomegaly	55624	POMGNT1	ORPHA:370959
HP:0002119	Ventriculomegaly	10585	POMT1	ORPHA:370959
HP:0002119	Ventriculomegaly	54903	MKS1	OMIM:249000
HP:0002119	Ventriculomegaly	6311	ATXN2	OMIM:183090
HP:0002119	Ventriculomegaly	80776	B9D2	OMIM:614175
HP:0002119	Ventriculomegaly	284217	LAMA1	OMIM:615960
HP:0002119	Ventriculomegaly	284217	LAMA1	ORPHA:370022
HP:0002119	Ventriculomegaly	2911	GRM1	OMIM:614831
HP:0002119	Ventriculomegaly	55770	EXOC2	OMIM:619306
HP:0002119	Ventriculomegaly	79971	WLS	OMIM:619648
HP:0002119	Ventriculomegaly	6310	ATXN1	OMIM:164400
HP:0002119	Ventriculomegaly	5373	PMM2	OMIM:212065
HP:0002119	Ventriculomegaly	81555	YIPF5	OMIM:619278
HP:0002119	Ventriculomegaly	10466	COG5	ORPHA:263487
HP:0002119	Ventriculomegaly	4750	NEK1	OMIM:263520
HP:0002119	Ventriculomegaly	100151683	RNU4ATAC	OMIM:210710
HP:0002119	Ventriculomegaly	23394	ADNP	OMIM:615873
HP:0002119	Ventriculomegaly	7355	SLC35A2	ORPHA:356961
HP:0002119	Ventriculomegaly	7355	SLC35A2	OMIM:300896
HP:0002119	Ventriculomegaly	7545	ZIC1	OMIM:616602
HP:0002119	Ventriculomegaly	7545	ZIC1	OMIM:618736
HP:0002119	Ventriculomegaly	80816	ASXL3	OMIM:615485
HP:0002119	Ventriculomegaly	387787	LIPT2	OMIM:617668
HP:0002119	Ventriculomegaly	1841	DTYMK	OMIM:619847
HP:0002119	Ventriculomegaly	23291	FBXW11	OMIM:618914
HP:0002119	Ventriculomegaly	57505	AARS2	OMIM:615889
HP:0002119	Ventriculomegaly	9382	COG1	OMIM:611209
HP:0002119	Ventriculomegaly	90161	HS6ST2	OMIM:301025
HP:0002119	Ventriculomegaly	84340	GFM2	ORPHA:565624
HP:0002119	Ventriculomegaly	129685	TAF8	OMIM:619972
HP:0002119	Ventriculomegaly	10588	MTHFS	OMIM:618367
HP:0002119	Ventriculomegaly	347733	TUBB2B	ORPHA:300573
HP:0002119	Ventriculomegaly	11274	USP18	OMIM:617397
HP:0002119	Ventriculomegaly	7528	YY1	OMIM:617557
HP:0002119	Ventriculomegaly	10381	TUBB3	ORPHA:300570
HP:0002119	Ventriculomegaly	8792	TNFRSF11A	OMIM:612301
HP:0002119	Ventriculomegaly	9361	LONP1	ORPHA:79243
HP:0002119	Ventriculomegaly	5160	PDHA1	ORPHA:79243
HP:0002119	Ventriculomegaly	83480	PUS3	ORPHA:488627
HP:0002119	Ventriculomegaly	54806	AHI1	OMIM:608629
HP:0002119	Ventriculomegaly	80311	KLHL15	OMIM:300982
HP:0002119	Ventriculomegaly	29968	PSAT1	ORPHA:284417
HP:0002119	Ventriculomegaly	9839	ZEB2	ORPHA:261552
HP:0002119	Ventriculomegaly	9839	ZEB2	ORPHA:261537
HP:0002119	Ventriculomegaly	2009	EML1	OMIM:600348
HP:0002119	Ventriculomegaly	25930	PTPN23	OMIM:618890
HP:0002119	Ventriculomegaly	5277	PIGA	OMIM:300868
HP:0002119	Ventriculomegaly	8550	MAPKAPK5	OMIM:619869
HP:0002119	Ventriculomegaly	80208	SPG11	ORPHA:2822
HP:0002119	Ventriculomegaly	1641	DCX	ORPHA:2148
HP:0002119	Ventriculomegaly	10352	WARS2	ORPHA:572798
HP:0002119	Ventriculomegaly	23230	VPS13A	ORPHA:2388
HP:0002119	Ventriculomegaly	200734	SPRED2	OMIM:619745
HP:0002119	Ventriculomegaly	2752	GLUL	OMIM:610015
HP:0002119	Ventriculomegaly	6304	SATB1	OMIM:619229
HP:0002119	Ventriculomegaly	6638	SNRPN	ORPHA:177907
HP:0002119	Ventriculomegaly	57572	DOCK6	OMIM:614219
HP:0002119	Ventriculomegaly	80347	COASY	OMIM:618266
HP:0002119	Ventriculomegaly	56006	SMG9	OMIM:619995
HP:0002119	Ventriculomegaly	9851	KIAA0753	OMIM:619479
HP:0002119	Ventriculomegaly	54539	NDUFB11	OMIM:300952
HP:0002119	Ventriculomegaly	1182	CLCN3	OMIM:619517
HP:0002119	Ventriculomegaly	1213	CLTC	OMIM:617854
HP:0002119	Ventriculomegaly	4329	ALDH6A1	OMIM:614105
HP:0002119	Ventriculomegaly	4784	NFIX	ORPHA:420179
HP:0002119	Ventriculomegaly	93210	PGAP3	OMIM:615716
HP:0002119	Ventriculomegaly	2896	GRN	OMIM:607485
HP:0002119	Ventriculomegaly	85365	ALG2	ORPHA:79326
HP:0002119	Ventriculomegaly	284252	KCTD1	OMIM:181270
HP:0002119	Ventriculomegaly	728294	D2HGDH	OMIM:600721
HP:0002119	Ventriculomegaly	100147744	RNU7-1	OMIM:619487
HP:0002119	Ventriculomegaly	7443	VRK1	OMIM:607596
HP:0002119	Ventriculomegaly	51244	CCDC174	OMIM:616816
HP:0002119	Ventriculomegaly	10430	TMEM147	OMIM:620075
HP:0002119	Ventriculomegaly	79989	IFT56	OMIM:619534
HP:0002119	Ventriculomegaly	5879	RAC1	OMIM:617751
HP:0002119	Ventriculomegaly	5528	PPP2R5D	ORPHA:457279
HP:0002119	Ventriculomegaly	6651	SON	ORPHA:500150
HP:0002119	Ventriculomegaly	738	VPS51	OMIM:618606
HP:0002119	Ventriculomegaly	2146	EZH2	OMIM:277590
HP:0002119	Ventriculomegaly	8139	GAN	OMIM:256850
HP:0002119	Ventriculomegaly	2639	GCDH	OMIM:231670
HP:0002119	Ventriculomegaly	23299	BICD2	OMIM:618291
HP:0002119	Ventriculomegaly	7546	ZIC2	OMIM:609637
HP:0002119	Ventriculomegaly	7305	TYROBP	OMIM:221770
HP:0002119	Ventriculomegaly	1523	CUX1	OMIM:618330
HP:0002119	Ventriculomegaly	3763	KCNJ6	OMIM:614098
HP:0002119	Ventriculomegaly	4208	MEF2C	OMIM:613443
HP:0002119	Ventriculomegaly	2902	GRIN1	ORPHA:208447
HP:0002119	Ventriculomegaly	8085	KMT2D	OMIM:147920
HP:0002119	Ventriculomegaly	7403	KDM6A	OMIM:147920
HP:0002119	Ventriculomegaly	79848	CSPP1	ORPHA:397715
HP:0002119	Ventriculomegaly	9786	KIAA0586	ORPHA:397715
HP:0002119	Ventriculomegaly	57551	TAOK1	OMIM:619575
HP:0002119	Ventriculomegaly	7874	USP7	ORPHA:500055
HP:0002119	Ventriculomegaly	57498	KIDINS220	OMIM:617296
HP:0002119	Ventriculomegaly	10159	ATP6AP2	ORPHA:363654
HP:0002119	Ventriculomegaly	9215	LARGE1	OMIM:613154
HP:0002119	Ventriculomegaly	91875	TTC5	OMIM:619244
HP:0002119	Ventriculomegaly	26005	C2CD3	ORPHA:434179
HP:0002119	Ventriculomegaly	4953	ODC1	ORPHA:544488
HP:0002119	Ventriculomegaly	81857	MED25	ORPHA:464738
HP:0002119	Ventriculomegaly	3781	KCNN2	OMIM:619725
HP:0002119	Ventriculomegaly	1786	DNMT1	ORPHA:314404
HP:0002119	Ventriculomegaly	51021	MRPS16	OMIM:610498
HP:0002119	Ventriculomegaly	9578	CDC42BPB	OMIM:619841
HP:0002119	Ventriculomegaly	51259	TMEM216	OMIM:608091
HP:0002119	Ventriculomegaly	56623	INPP5E	OMIM:213300
HP:0002119	Ventriculomegaly	91147	TMEM67	OMIM:610688
HP:0002119	Ventriculomegaly	79029	AFG2B	OMIM:619616
HP:0002119	Ventriculomegaly	9289	ADGRG1	OMIM:615752
HP:0002119	Ventriculomegaly	80055	PGAP1	OMIM:615802
HP:0002119	Ventriculomegaly	25782	RAB3GAP2	OMIM:212720
HP:0002119	Ventriculomegaly	22930	RAB3GAP1	OMIM:600118
HP:0012330	Pyelonephritis	9968	MED12	OMIM:301068
HP:0012330	Pyelonephritis	51726	DNAJB11	ORPHA:730
HP:0012330	Pyelonephritis	23193	GANAB	ORPHA:730
HP:0012330	Pyelonephritis	5310	PKD1	ORPHA:730
HP:0012330	Pyelonephritis	5311	PKD2	ORPHA:730
HP:0012330	Pyelonephritis	29880	ALG5	ORPHA:730
HP:0012330	Pyelonephritis	9742	IFT140	ORPHA:730
HP:0012330	Pyelonephritis	79796	ALG9	ORPHA:730
HP:0012330	Pyelonephritis	80114	BICC1	ORPHA:730
HP:0012330	Pyelonephritis	284252	KCTD1	OMIM:181270
HP:0012330	Pyelonephritis	284252	KCTD1	ORPHA:2036
HP:0012330	Pyelonephritis	4629	MYH11	OMIM:619351
HP:0012330	Pyelonephritis	7498	XDH	OMIM:278300
HP:0012330	Pyelonephritis	2006	ELN	ORPHA:90348
HP:0012330	Pyelonephritis	10516	FBLN5	ORPHA:90348
HP:0012330	Pyelonephritis	10516	FBLN5	ORPHA:90349
HP:0012330	Pyelonephritis	5832	ALDH18A1	ORPHA:90348
HP:0012330	Pyelonephritis	4052	LTBP1	ORPHA:90349
HP:0012330	Pyelonephritis	30008	EFEMP2	ORPHA:90349
HP:0012330	Pyelonephritis	3426	CFI	OMIM:610984
HP:0012330	Pyelonephritis	3209	HOXA13	OMIM:140000
HP:0012330	Pyelonephritis	54796	BNC2	ORPHA:93110
HP:0012330	Pyelonephritis	85358	SHANK3	ORPHA:48652
HP:0012331	Abnormal autonomic nervous system morphology	79600	TCTN1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	79848	CSPP1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	51684	SUFU	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54806	AHI1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54806	AHI1	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	153241	CEP120	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	153241	CEP120	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	91147	TMEM67	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	200894	ARL13B	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	9731	CEP104	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	219844	HYLS1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	23247	KATNIP	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	219854	TMEM218	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54903	MKS1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54903	MKS1	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	95681	CEP41	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	95681	CEP41	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	56623	INPP5E	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	56623	INPP5E	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	79867	TCTN2	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80776	B9D2	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	10464	PIBF1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80210	ARMC9	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	25776	CBY1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	27077	B9D1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	403	ARL3	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	25970	SH2B1	ORPHA:261222
HP:0012331	Abnormal autonomic nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0012331	Abnormal autonomic nervous system morphology	6535	SLC6A8	ORPHA:52503
HP:0012331	Abnormal autonomic nervous system morphology	10262	SF3B4	OMIM:154400
HP:0012331	Abnormal autonomic nervous system morphology	8260	NAA10	OMIM:309800
HP:0012331	Abnormal autonomic nervous system morphology	54880	BCOR	OMIM:309800
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:99803
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0012331	Abnormal autonomic nervous system morphology	26128	KIFBP	OMIM:609460
HP:0012331	Abnormal autonomic nervous system morphology	26128	KIFBP	ORPHA:66629
HP:0012331	Abnormal autonomic nervous system morphology	6023	RMRP	OMIM:250250
HP:0012331	Abnormal autonomic nervous system morphology	6023	RMRP	ORPHA:175
HP:0012331	Abnormal autonomic nervous system morphology	23556	PIGN	ORPHA:2059
HP:0012331	Abnormal autonomic nervous system morphology	8195	MKKS	OMIM:236700
HP:0012331	Abnormal autonomic nervous system morphology	8195	MKKS	ORPHA:2473
HP:0012331	Abnormal autonomic nervous system morphology	84720	PIGO	OMIM:614749
HP:0012331	Abnormal autonomic nervous system morphology	84720	PIGO	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	57167	SALL4	OMIM:607323
HP:0012331	Abnormal autonomic nervous system morphology	57167	SALL4	ORPHA:959
HP:0012331	Abnormal autonomic nervous system morphology	6925	TCF4	ORPHA:2896
HP:0012331	Abnormal autonomic nervous system morphology	64324	NSD1	ORPHA:821
HP:0012331	Abnormal autonomic nervous system morphology	29072	SETD2	ORPHA:821
HP:0012331	Abnormal autonomic nervous system morphology	10297	APC2	ORPHA:821
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	OMIM:613265
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	OMIM:613712
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	OMIM:613711
HP:0012331	Abnormal autonomic nervous system morphology	627	BDNF	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	283446	MYO1H	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	215	ABCD1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	6608	SMO	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1889	ECE1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1889	ECE1	OMIM:613870
HP:0012331	Abnormal autonomic nervous system morphology	6720	SREBF1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	223117	SEMA3D	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	538	ATP7A	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:277580
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:600155
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:600501
HP:0012331	Abnormal autonomic nervous system morphology	10512	SEMA3C	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2064	ERBB2	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2065	ERBB3	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2065	ERBB3	OMIM:243180
HP:0012331	Abnormal autonomic nervous system morphology	4902	NRTN	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	OMIM:308205
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	ORPHA:2273
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	ORPHA:85284
HP:0012331	Abnormal autonomic nervous system morphology	83479	DDX59	ORPHA:2919
HP:0012331	Abnormal autonomic nervous system morphology	83479	DDX59	OMIM:174300
HP:0012331	Abnormal autonomic nervous system morphology	2623	GATA1	OMIM:190685
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	OMIM:613266
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	OMIM:609136
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:163746
HP:0012331	Abnormal autonomic nervous system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	3845	KRAS	ORPHA:3339
HP:0012331	Abnormal autonomic nervous system morphology	72	ACTG2	ORPHA:2604
HP:0012331	Abnormal autonomic nervous system morphology	72	ACTG2	OMIM:155310
HP:0012331	Abnormal autonomic nervous system morphology	1717	DHCR7	ORPHA:818
HP:0012331	Abnormal autonomic nervous system morphology	1717	DHCR7	OMIM:270400
HP:0012331	Abnormal autonomic nervous system morphology	429	ASCL1	ORPHA:99803
HP:0012331	Abnormal autonomic nervous system morphology	4286	MITF	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	4286	MITF	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0012331	Abnormal autonomic nervous system morphology	6591	SNAI2	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	3815	KIT	ORPHA:2884
HP:0012331	Abnormal autonomic nervous system morphology	3815	KIT	OMIM:172800
HP:0012331	Abnormal autonomic nervous system morphology	55650	PIGV	OMIM:239300
HP:0012331	Abnormal autonomic nervous system morphology	55650	PIGV	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	7846	TUBA1A	ORPHA:171680
HP:0012331	Abnormal autonomic nervous system morphology	170302	ARX	ORPHA:452
HP:0012331	Abnormal autonomic nervous system morphology	7299	TYR	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	4254	KITLG	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	5077	PAX3	ORPHA:894
HP:0012331	Abnormal autonomic nervous system morphology	5077	PAX3	OMIM:148820
HP:0012331	Abnormal autonomic nervous system morphology	84992	PIGY	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	93210	PGAP3	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	284098	PIGW	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	27315	PGAP2	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	27315	PGAP2	OMIM:614207
HP:0012331	Abnormal autonomic nervous system morphology	9487	PIGL	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	84100	ARL6	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	79140	CCDC28B	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	582	BBS1	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	672	BRCA1	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	7516	XRCC2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	29089	UBE2T	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	675	BRCA2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55120	FANCL	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2177	FANCD2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2175	FANCA	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2187	FANCB	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2176	FANCC	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2178	FANCE	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2188	FANCF	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2189	FANCG	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	5888	RAD51	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	5889	RAD51C	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55159	RFWD3	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	83990	BRIP1	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	57697	FANCM	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	79728	PALB2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	84464	SLX4	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2072	ERCC4	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55215	FANCI	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	546	ATRX	ORPHA:847
HP:0012331	Abnormal autonomic nervous system morphology	1312	COMT	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	2812	GP1BB	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	6239	RREB1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	6899	TBX1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	7290	HIRA	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	9632	SEC24C	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	7353	UFD1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	421	ARVCF	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	79583	TMEM231	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	80184	CEP290	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	51259	TMEM216	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	57545	CC2D2A	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	2294	FOXF1	ORPHA:210122
HP:0012331	Abnormal autonomic nervous system morphology	3897	L1CAM	OMIM:304100
HP:0012331	Abnormal autonomic nervous system morphology	3897	L1CAM	ORPHA:1497
HP:0012331	Abnormal autonomic nervous system morphology	26040	SETBP1	ORPHA:798
HP:0012331	Abnormal autonomic nervous system morphology	5979	RET	OMIM:142623
HP:0012331	Abnormal autonomic nervous system morphology	9839	ZEB2	OMIM:235730
HP:0012331	Abnormal autonomic nervous system morphology	7276	TTR	ORPHA:85451
HP:0012332	Abnormal autonomic nervous system physiology	1534	CYB561	OMIM:618182
HP:0012332	Abnormal autonomic nervous system physiology	8518	ELP1	OMIM:223900
HP:0012332	Abnormal autonomic nervous system physiology	8518	ELP1	ORPHA:1764
HP:0012332	Abnormal autonomic nervous system physiology	1621	DBH	ORPHA:230
HP:0012332	Abnormal autonomic nervous system physiology	1621	DBH	OMIM:223360
HP:0012332	Abnormal autonomic nervous system physiology	1136	CHRNA3	OMIM:191800
HP:0012332	Abnormal autonomic nervous system physiology	29926	GMPPA	OMIM:615510
HP:0012332	Abnormal autonomic nervous system physiology	1585	CYP11B2	OMIM:610600
HP:0012332	Abnormal autonomic nervous system physiology	1585	CYP11B2	ORPHA:556030
HP:0012332	Abnormal autonomic nervous system physiology	538	ATP7A	OMIM:304150
HP:0012332	Abnormal autonomic nervous system physiology	1277	COL1A1	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	1289	COL5A1	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	1290	COL5A2	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	2632	GBE1	OMIM:263570
HP:0012332	Abnormal autonomic nervous system physiology	857	CAV1	OMIM:606721
HP:0012332	Abnormal autonomic nervous system physiology	3594	IL12RB1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	23534	TNPO3	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3592	IL12A	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	6689	SPIB	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	5450	POU2AF1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	9966	TNFSF15	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	79258	MMEL1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3663	IRF5	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3074	HEXB	OMIM:268800
HP:0012332	Abnormal autonomic nervous system physiology	51142	CHCHD2	OMIM:616710
HP:0012332	Abnormal autonomic nervous system physiology	80208	SPG11	ORPHA:2822
HP:0012332	Abnormal autonomic nervous system physiology	23095	KIF1B	OMIM:256700
HP:0012332	Abnormal autonomic nervous system physiology	410	ARSA	ORPHA:309271
HP:0012332	Abnormal autonomic nervous system physiology	5660	PSAP	ORPHA:309271
HP:0012332	Abnormal autonomic nervous system physiology	3953	LEPR	ORPHA:179494
HP:0012332	Abnormal autonomic nervous system physiology	23317	DNAJC13	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	1981	EIF4G1	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	55737	VPS35	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	26058	GIGYF2	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	3952	LEP	ORPHA:66628
HP:0012332	Abnormal autonomic nervous system physiology	11128	POLR3A	ORPHA:447896
HP:0012332	Abnormal autonomic nervous system physiology	2783	GNB2	OMIM:619503
HP:0012332	Abnormal autonomic nervous system physiology	84570	COL25A1	ORPHA:91411
HP:0012332	Abnormal autonomic nervous system physiology	79776	ZFHX4	ORPHA:91411
HP:0012332	Abnormal autonomic nervous system physiology	6530	SLC6A2	OMIM:604715
HP:0012332	Abnormal autonomic nervous system physiology	6335	SCN9A	OMIM:133020
HP:0012332	Abnormal autonomic nervous system physiology	6335	SCN9A	OMIM:243000
HP:0012332	Abnormal autonomic nervous system physiology	5621	PRNP	ORPHA:282166
HP:0012332	Abnormal autonomic nervous system physiology	5621	PRNP	OMIM:600072
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	OMIM:605543
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	ORPHA:171695
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	4287	ATXN3	OMIM:109150
HP:0012332	Abnormal autonomic nervous system physiology	6492	SIM1	ORPHA:369873
HP:0012332	Abnormal autonomic nervous system physiology	11280	SCN11A	OMIM:615552
HP:0012332	Abnormal autonomic nervous system physiology	11280	SCN11A	OMIM:615548
HP:0012332	Abnormal autonomic nervous system physiology	55823	VPS11	OMIM:616683
HP:0012332	Abnormal autonomic nervous system physiology	55823	VPS11	ORPHA:466934
HP:0012332	Abnormal autonomic nervous system physiology	8929	PHOX2B	OMIM:209880
HP:0012332	Abnormal autonomic nervous system physiology	8929	PHOX2B	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	22948	CCT5	ORPHA:139578
HP:0012332	Abnormal autonomic nervous system physiology	54832	VPS13C	OMIM:616840
HP:0012332	Abnormal autonomic nervous system physiology	54832	VPS13C	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	6328	SCN3A	OMIM:617935
HP:0012332	Abnormal autonomic nervous system physiology	773	CACNA1A	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	6507	SLC1A3	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	477	ATP1A2	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	478	ATP1A3	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	ORPHA:227510
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	OMIM:146500
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	ORPHA:98933
HP:0012332	Abnormal autonomic nervous system physiology	23345	SYNE1	OMIM:610743
HP:0012332	Abnormal autonomic nervous system physiology	493856	CISD2	ORPHA:3463
HP:0012332	Abnormal autonomic nervous system physiology	7466	WFS1	ORPHA:3463
HP:0012332	Abnormal autonomic nervous system physiology	2670	GFAP	ORPHA:363722
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	ORPHA:85447
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	ORPHA:85451
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	OMIM:105210
HP:0012332	Abnormal autonomic nervous system physiology	25828	TXN2	ORPHA:478029
HP:0012332	Abnormal autonomic nervous system physiology	9568	GABBR2	OMIM:617903
HP:0012332	Abnormal autonomic nervous system physiology	11152	WDR45	ORPHA:329284
HP:0012332	Abnormal autonomic nervous system physiology	11152	WDR45	OMIM:300894
HP:0012332	Abnormal autonomic nervous system physiology	5979	RET	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	429	ASCL1	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	6663	SOX10	OMIM:609136
HP:0012332	Abnormal autonomic nervous system physiology	4204	MECP2	ORPHA:778
HP:0012332	Abnormal autonomic nervous system physiology	801	CALM1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3753	KCNE1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3762	KCNJ5	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	805	CALM2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6910	TBX5	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6336	SCN10A	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3757	KCNH2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	9992	KCNE2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	10142	AKAP9	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	9722	NOS1AP	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	775	CACNA1C	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3784	KCNQ1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	10345	TRDN	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6331	SCN5A	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6330	SCN4B	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	808	CALM3	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6640	SNTA1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	859	CAV3	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	287	ANK2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	7259	TSPYL1	ORPHA:168593
HP:0012332	Abnormal autonomic nervous system physiology	51	ACOX1	OMIM:618960
HP:0012332	Abnormal autonomic nervous system physiology	6571	SLC18A2	OMIM:618049
HP:0012332	Abnormal autonomic nervous system physiology	2717	GLA	OMIM:301500
HP:0012332	Abnormal autonomic nervous system physiology	3977	LIFR	ORPHA:3206
HP:0012332	Abnormal autonomic nervous system physiology	3977	LIFR	OMIM:601559
HP:0012332	Abnormal autonomic nervous system physiology	1889	ECE1	OMIM:613870
HP:0012332	Abnormal autonomic nervous system physiology	10381	TUBB3	ORPHA:300570
HP:0012332	Abnormal autonomic nervous system physiology	8398	PLA2G6	ORPHA:35069
HP:0012332	Abnormal autonomic nervous system physiology	2332	FMR1	ORPHA:93256
HP:0012332	Abnormal autonomic nervous system physiology	8086	AAAS	OMIM:231550
HP:0012332	Abnormal autonomic nervous system physiology	5649	RELN	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	9211	LGI1	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	9681	DEPDC5	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	25793	FBXO7	ORPHA:171695
HP:0012332	Abnormal autonomic nervous system physiology	5981	RFC1	OMIM:614575
HP:0012332	Abnormal autonomic nervous system physiology	221927	BRAT1	OMIM:614498
HP:0012332	Abnormal autonomic nervous system physiology	23230	VPS13A	ORPHA:2388
HP:0012332	Abnormal autonomic nervous system physiology	4914	NTRK1	OMIM:256800
HP:0012332	Abnormal autonomic nervous system physiology	2065	ERBB3	OMIM:243180
HP:0012332	Abnormal autonomic nervous system physiology	11315	PARK7	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	7345	UCHL1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	27429	HTRA2	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	120892	LRRK2	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	9829	DNAJC6	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	5420	PODXL	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	65018	PINK1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	8867	SYNJ1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	5071	PRKN	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	2747	GLUD2	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	126	ADH1C	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4137	MAPT	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	2629	GBA1	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4929	NR4A2	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6908	TBP	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4576	MT-TT	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	9627	SNCAIP	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6311	ATXN2	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6315	ATXN8OS	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	5498	PPOX	ORPHA:79473
HP:0012332	Abnormal autonomic nervous system physiology	4001	LMNB1	ORPHA:99027
HP:0012332	Abnormal autonomic nervous system physiology	2934	GSN	OMIM:105120
HP:0012332	Abnormal autonomic nervous system physiology	567	B2M	ORPHA:314652
HP:0012334	Extrahepatic cholestasis	672	BRCA1	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	285282	RABL3	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	7157	TP53	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	675	BRCA2	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	3845	KRAS	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	1029	CDKN2A	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	79728	PALB2	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	4089	SMAD4	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	23022	PALLD	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	1027	CDKN1B	ORPHA:276152
HP:0012335	Abnormality of folate metabolism	50640	PNPLA8	OMIM:251950
HP:0012335	Abnormality of folate metabolism	6711	SPTBN1	OMIM:619475
HP:0012335	Abnormality of folate metabolism	10841	FTCD	ORPHA:51208
HP:0012335	Abnormality of folate metabolism	6948	TCN2	OMIM:275350
HP:0012335	Abnormality of folate metabolism	1719	DHFR	OMIM:613839
HP:0012335	Abnormality of folate metabolism	8029	CUBN	OMIM:261100
HP:0012335	Abnormality of folate metabolism	55593	OTUD5	OMIM:301056
HP:0012335	Abnormality of folate metabolism	113235	SLC46A1	OMIM:229050
HP:0012335	Abnormality of folate metabolism	3117	HLA-DQA1	OMIM:212750
HP:0012335	Abnormality of folate metabolism	3119	HLA-DQB1	OMIM:212750
HP:0012335	Abnormality of folate metabolism	374879	ZNF699	OMIM:619488
HP:0012335	Abnormality of folate metabolism	81693	AMN	ORPHA:35858
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	50640	PNPLA8	OMIM:251950
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	1719	DHFR	OMIM:613839
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	6711	SPTBN1	OMIM:619475
HP:0012337	Abnormal homeostasis	405753	DUOXA2	ORPHA:95716
HP:0012337	Abnormal homeostasis	6528	SLC5A5	ORPHA:95716
HP:0012337	Abnormal homeostasis	7038	TG	ORPHA:95716
HP:0012337	Abnormal homeostasis	7173	TPO	ORPHA:95716
HP:0012337	Abnormal homeostasis	389434	IYD	ORPHA:95716
HP:0012337	Abnormal homeostasis	50506	DUOX2	ORPHA:95716
HP:0012337	Abnormal homeostasis	9401	RECQL4	ORPHA:221016
HP:0012337	Abnormal homeostasis	213	ALB	ORPHA:86816
HP:0012337	Abnormal homeostasis	7252	TSHB	ORPHA:90674
HP:0012337	Abnormal homeostasis	64682	ANAPC1	ORPHA:221008
HP:0012337	Abnormal homeostasis	81555	YIPF5	OMIM:619278
HP:0012337	Abnormal homeostasis	1356	CP	OMIM:604290
HP:0012337	Abnormal homeostasis	1356	CP	ORPHA:48818
HP:0012337	Abnormal homeostasis	55627	SMPD4	OMIM:618622
HP:0012337	Abnormal homeostasis	60675	PROK2	OMIM:610628
HP:0012337	Abnormal homeostasis	57104	PNPLA2	ORPHA:565612
HP:0012337	Abnormal homeostasis	57104	PNPLA2	OMIM:610717
HP:0012337	Abnormal homeostasis	57104	PNPLA2	ORPHA:98908
HP:0012337	Abnormal homeostasis	63916	ELMO2	ORPHA:3019
HP:0012337	Abnormal homeostasis	169792	GLIS3	OMIM:610199
HP:0012337	Abnormal homeostasis	10560	SLC19A2	ORPHA:49827
HP:0012337	Abnormal homeostasis	10560	SLC19A2	OMIM:249270
HP:0012337	Abnormal homeostasis	134218	DNAJC21	ORPHA:811
HP:0012337	Abnormal homeostasis	79631	EFL1	ORPHA:811
HP:0012337	Abnormal homeostasis	51119	SBDS	ORPHA:811
HP:0012337	Abnormal homeostasis	4976	OPA1	ORPHA:98673
HP:0012337	Abnormal homeostasis	4976	OPA1	ORPHA:1215
HP:0012337	Abnormal homeostasis	4511	MT-TC	OMIM:540000
HP:0012337	Abnormal homeostasis	2332	FMR1	ORPHA:449291
HP:0012337	Abnormal homeostasis	84133	ZNRF3	ORPHA:1501
HP:0012337	Abnormal homeostasis	1029	CDKN2A	ORPHA:1501
HP:0012337	Abnormal homeostasis	1029	CDKN2A	ORPHA:1333
HP:0012337	Abnormal homeostasis	7015	TERT	ORPHA:1501
HP:0012337	Abnormal homeostasis	7015	TERT	ORPHA:1775
HP:0012337	Abnormal homeostasis	7274	TTPA	ORPHA:96
HP:0012337	Abnormal homeostasis	51651	PTRH2	ORPHA:456312
HP:0012337	Abnormal homeostasis	51651	PTRH2	OMIM:616263
HP:0012337	Abnormal homeostasis	2992	GYG1	ORPHA:263297
HP:0012337	Abnormal homeostasis	285282	RABL3	ORPHA:1333
HP:0012337	Abnormal homeostasis	79728	PALB2	ORPHA:1333
HP:0012337	Abnormal homeostasis	23022	PALLD	ORPHA:1333
HP:0012337	Abnormal homeostasis	5144	PDE4D	OMIM:614613
HP:0012337	Abnormal homeostasis	5144	PDE4D	ORPHA:280651
HP:0012337	Abnormal homeostasis	57817	HAMP	ORPHA:79230
HP:0012337	Abnormal homeostasis	148738	HJV	ORPHA:79230
HP:0012337	Abnormal homeostasis	2707	GJB3	ORPHA:317
HP:0012337	Abnormal homeostasis	2531	KDSR	ORPHA:317
HP:0012337	Abnormal homeostasis	127534	GJB4	ORPHA:317
HP:0012337	Abnormal homeostasis	2395	FXN	ORPHA:95
HP:0012337	Abnormal homeostasis	2395	FXN	OMIM:229300
HP:0012337	Abnormal homeostasis	165	AEBP1	ORPHA:536532
HP:0012337	Abnormal homeostasis	846	CASR	ORPHA:676
HP:0012337	Abnormal homeostasis	1357	CPA1	ORPHA:676
HP:0012337	Abnormal homeostasis	3975	LHX1	ORPHA:261265
HP:0012337	Abnormal homeostasis	5189	PEX1	ORPHA:3220
HP:0012337	Abnormal homeostasis	493856	CISD2	ORPHA:3463
HP:0012337	Abnormal homeostasis	493856	CISD2	OMIM:604928
HP:0012337	Abnormal homeostasis	79759	ZNF668	OMIM:620194
HP:0012337	Abnormal homeostasis	5244	ABCB4	ORPHA:69663
HP:0012337	Abnormal homeostasis	51124	IER3IP1	OMIM:614231
HP:0012337	Abnormal homeostasis	4205	MEF2A	OMIM:608320
HP:0012337	Abnormal homeostasis	4854	NOTCH3	ORPHA:136
HP:0012337	Abnormal homeostasis	5879	RAC1	ORPHA:500159
HP:0012337	Abnormal homeostasis	3514	IGKC	ORPHA:183675
HP:0012337	Abnormal homeostasis	3501	IGHG2	ORPHA:183675
HP:0012337	Abnormal homeostasis	23503	ZFYVE26	ORPHA:100996
HP:0012337	Abnormal homeostasis	80169	CTC1	ORPHA:1775
HP:0012337	Abnormal homeostasis	26277	TINF2	ORPHA:1775
HP:0012337	Abnormal homeostasis	55651	NHP2	ORPHA:1775
HP:0012337	Abnormal homeostasis	55135	WRAP53	ORPHA:1775
HP:0012337	Abnormal homeostasis	51750	RTEL1	ORPHA:1775
HP:0012337	Abnormal homeostasis	7012	TERC	ORPHA:1775
HP:0012337	Abnormal homeostasis	55505	NOP10	ORPHA:1775
HP:0012337	Abnormal homeostasis	5073	PARN	ORPHA:1775
HP:0012337	Abnormal homeostasis	1736	DKC1	ORPHA:1775
HP:0012337	Abnormal homeostasis	7298	TYMS	ORPHA:1775
HP:0012337	Abnormal homeostasis	25886	POC1A	OMIM:614813
HP:0012337	Abnormal homeostasis	3480	IGF1R	OMIM:270450
HP:0012337	Abnormal homeostasis	80067	DCAF17	ORPHA:3464
HP:0012337	Abnormal homeostasis	10367	MICU1	ORPHA:401768
HP:0012337	Abnormal homeostasis	3953	LEPR	ORPHA:179494
HP:0012337	Abnormal homeostasis	3952	LEP	ORPHA:66628
HP:0012337	Abnormal homeostasis	23137	SMC5	OMIM:620185
HP:0012337	Abnormal homeostasis	2074	ERCC6	OMIM:214150
HP:0012337	Abnormal homeostasis	3479	IGF1	ORPHA:73272
HP:0012337	Abnormal homeostasis	7840	ALMS1	ORPHA:64
HP:0012337	Abnormal homeostasis	1621	DBH	ORPHA:230
HP:0012337	Abnormal homeostasis	3991	LIPE	ORPHA:435660
HP:0012337	Abnormal homeostasis	3991	LIPE	OMIM:615980
HP:0012337	Abnormal homeostasis	3290	HSD11B1	OMIM:614662
HP:0012337	Abnormal homeostasis	7486	WRN	ORPHA:902
HP:0012337	Abnormal homeostasis	2887	GRB10	ORPHA:96182
HP:0012337	Abnormal homeostasis	221496	LEMD2	OMIM:619322
HP:0012337	Abnormal homeostasis	6934	TCF7L2	OMIM:125853
HP:0012337	Abnormal homeostasis	3990	LIPC	OMIM:125853
HP:0012337	Abnormal homeostasis	9479	MAPK8IP1	OMIM:125853
HP:0012337	Abnormal homeostasis	56729	RETN	OMIM:125853
HP:0012337	Abnormal homeostasis	4544	MTNR1B	OMIM:125853
HP:0012337	Abnormal homeostasis	5506	PPP1R3A	OMIM:125853
HP:0012337	Abnormal homeostasis	208	AKT2	OMIM:125853
HP:0012337	Abnormal homeostasis	208	AKT2	ORPHA:79085
HP:0012337	Abnormal homeostasis	10644	IGF2BP2	OMIM:125853
HP:0012337	Abnormal homeostasis	5770	PTPN1	OMIM:125853
HP:0012337	Abnormal homeostasis	8660	IRS2	OMIM:125853
HP:0012337	Abnormal homeostasis	3159	HMGA1	OMIM:125853
HP:0012337	Abnormal homeostasis	3667	IRS1	OMIM:125853
HP:0012337	Abnormal homeostasis	169026	SLC30A8	OMIM:125853
HP:0012337	Abnormal homeostasis	2820	GPD2	OMIM:125853
HP:0012337	Abnormal homeostasis	3662	IRF4	ORPHA:3452
HP:0012337	Abnormal homeostasis	10651	MTX2	ORPHA:90153
HP:0012337	Abnormal homeostasis	7518	XRCC4	OMIM:616541
HP:0012337	Abnormal homeostasis	3483	IGFALS	ORPHA:140941
HP:0012337	Abnormal homeostasis	9927	MFN2	ORPHA:2398
HP:0012337	Abnormal homeostasis	84100	ARL6	OMIM:209900
HP:0012337	Abnormal homeostasis	79140	CCDC28B	OMIM:209900
HP:0012337	Abnormal homeostasis	582	BBS1	OMIM:209900
HP:0012337	Abnormal homeostasis	84823	LMNB2	ORPHA:79087
HP:0012337	Abnormal homeostasis	284119	CAVIN1	ORPHA:528
HP:0012337	Abnormal homeostasis	284119	CAVIN1	OMIM:613327
HP:0012337	Abnormal homeostasis	2353	FOS	ORPHA:528
HP:0012337	Abnormal homeostasis	641	BLM	ORPHA:125
HP:0012337	Abnormal homeostasis	5424	POLD1	OMIM:615381
HP:0012337	Abnormal homeostasis	109	ADCY3	OMIM:617885
HP:0012337	Abnormal homeostasis	84984	CEP19	OMIM:615703
HP:0012337	Abnormal homeostasis	1588	CYP19A1	ORPHA:91
HP:0012337	Abnormal homeostasis	5346	PLIN1	ORPHA:280356
HP:0012337	Abnormal homeostasis	26580	BSCL2	OMIM:269700
HP:0012337	Abnormal homeostasis	10555	AGPAT2	OMIM:608594
HP:0012337	Abnormal homeostasis	2235	FECH	OMIM:177000
HP:0012337	Abnormal homeostasis	2235	FECH	ORPHA:79278
HP:0012337	Abnormal homeostasis	657	BMPR1A	ORPHA:329971
HP:0012337	Abnormal homeostasis	4089	SMAD4	ORPHA:329971
HP:0012337	Abnormal homeostasis	2022	ENG	ORPHA:329971
HP:0012337	Abnormal homeostasis	8195	MKKS	OMIM:236700
HP:0012337	Abnormal homeostasis	79650	USB1	OMIM:604173
HP:0012337	Abnormal homeostasis	84162	BLTP1	OMIM:617822
HP:0012337	Abnormal homeostasis	7253	TSHR	ORPHA:90673
HP:0012337	Abnormal homeostasis	2733	GLE1	OMIM:253310
HP:0012337	Abnormal homeostasis	3849	KRT2	ORPHA:455
HP:0012337	Abnormal homeostasis	3913	LAMB2	OMIM:609049
HP:0012337	Abnormal homeostasis	3860	KRT13	OMIM:615785
HP:0012337	Abnormal homeostasis	55644	OSGEP	OMIM:617729
HP:0012337	Abnormal homeostasis	4069	LYZ	OMIM:105200
HP:0012337	Abnormal homeostasis	335	APOA1	OMIM:105200
HP:0012337	Abnormal homeostasis	567	B2M	OMIM:105200
HP:0012337	Abnormal homeostasis	51002	TPRKB	OMIM:617731
HP:0012337	Abnormal homeostasis	2776	GNAQ	ORPHA:624
HP:0012337	Abnormal homeostasis	2934	GSN	ORPHA:85448
HP:0012337	Abnormal homeostasis	55704	CCDC88A	OMIM:617507
HP:0012337	Abnormal homeostasis	2683	B4GALT1	ORPHA:79332
HP:0012337	Abnormal homeostasis	2065	ERBB3	OMIM:607598
HP:0012337	Abnormal homeostasis	4846	NOS3	OMIM:189800
HP:0012337	Abnormal homeostasis	4351	MPI	ORPHA:79319
HP:0012337	Abnormal homeostasis	4351	MPI	OMIM:602579
HP:0012337	Abnormal homeostasis	940	CD28	ORPHA:3162
HP:0012337	Abnormal homeostasis	940	CD28	ORPHA:2584
HP:0012337	Abnormal homeostasis	7133	TNFRSF1B	ORPHA:3162
HP:0012337	Abnormal homeostasis	7133	TNFRSF1B	ORPHA:2584
HP:0012337	Abnormal homeostasis	348	APOE	ORPHA:158029
HP:0012337	Abnormal homeostasis	738	VPS51	OMIM:618606
HP:0012337	Abnormal homeostasis	3783	KCNN4	ORPHA:3202
HP:0012337	Abnormal homeostasis	10682	EBP	OMIM:302960
HP:0012337	Abnormal homeostasis	1832	DSP	OMIM:605676
HP:0012337	Abnormal homeostasis	9742	IFT140	OMIM:266920
HP:0012337	Abnormal homeostasis	29968	PSAT1	OMIM:616038
HP:0012337	Abnormal homeostasis	203068	TUBB	ORPHA:2505
HP:0012337	Abnormal homeostasis	10982	MAPRE2	ORPHA:2505
HP:0012337	Abnormal homeostasis	9373	PLAA	OMIM:617527
HP:0012337	Abnormal homeostasis	1144	CHRND	OMIM:253290
HP:0012337	Abnormal homeostasis	1134	CHRNA1	OMIM:253290
HP:0012337	Abnormal homeostasis	123624	AGBL1	ORPHA:98974
HP:0012337	Abnormal homeostasis	64132	XYLT2	OMIM:605822
HP:0012337	Abnormal homeostasis	998	CDC42	ORPHA:487796
HP:0012337	Abnormal homeostasis	998	CDC42	OMIM:616737
HP:0012337	Abnormal homeostasis	5784	PTPN14	OMIM:613611
HP:0012337	Abnormal homeostasis	118429	ANTXR2	ORPHA:2176
HP:0012337	Abnormal homeostasis	3636	INPPL1	ORPHA:3144
HP:0012337	Abnormal homeostasis	5649	RELN	OMIM:257320
HP:0012337	Abnormal homeostasis	207	AKT1	ORPHA:744
HP:0012337	Abnormal homeostasis	10060	ABCC9	OMIM:239850
HP:0012337	Abnormal homeostasis	7075	TIE1	OMIM:619401
HP:0012337	Abnormal homeostasis	285	ANGPT2	OMIM:619369
HP:0012337	Abnormal homeostasis	5594	MAPK1	OMIM:619087
HP:0012337	Abnormal homeostasis	8642	DCHS1	ORPHA:314679
HP:0012337	Abnormal homeostasis	8260	NAA10	OMIM:300855
HP:0012337	Abnormal homeostasis	4668	NAGA	ORPHA:79280
HP:0012337	Abnormal homeostasis	4668	NAGA	OMIM:609242
HP:0012337	Abnormal homeostasis	4668	NAGA	ORPHA:79279
HP:0012337	Abnormal homeostasis	5605	MAP2K2	ORPHA:1340
HP:0012337	Abnormal homeostasis	3845	KRAS	ORPHA:1340
HP:0012337	Abnormal homeostasis	3845	KRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	3845	KRAS	OMIM:600268
HP:0012337	Abnormal homeostasis	22800	RRAS2	ORPHA:648
HP:0012337	Abnormal homeostasis	8216	LZTR1	ORPHA:648
HP:0012337	Abnormal homeostasis	6016	RIT1	ORPHA:648
HP:0012337	Abnormal homeostasis	6237	RRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	5894	RAF1	ORPHA:648
HP:0012337	Abnormal homeostasis	22808	MRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	200734	SPRED2	ORPHA:648
HP:0012337	Abnormal homeostasis	4893	NRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	6654	SOS1	ORPHA:648
HP:0012337	Abnormal homeostasis	6655	SOS2	ORPHA:648
HP:0012337	Abnormal homeostasis	5922	RASA2	ORPHA:648
HP:0012337	Abnormal homeostasis	23592	LEMD3	ORPHA:1306
HP:0012337	Abnormal homeostasis	8517	IKBKG	OMIM:300291
HP:0012337	Abnormal homeostasis	5290	PIK3CA	OMIM:613089
HP:0012337	Abnormal homeostasis	80208	SPG11	ORPHA:2822
HP:0012337	Abnormal homeostasis	374654	KIF7	OMIM:607131
HP:0012337	Abnormal homeostasis	7424	VEGFC	OMIM:615907
HP:0012337	Abnormal homeostasis	6399	TRAPPC2	ORPHA:93284
HP:0012337	Abnormal homeostasis	8838	CCN6	OMIM:208230
HP:0012337	Abnormal homeostasis	8838	CCN6	ORPHA:1159
HP:0012337	Abnormal homeostasis	540	ATP7B	ORPHA:905
HP:0012337	Abnormal homeostasis	3248	HPGD	ORPHA:1525
HP:0012337	Abnormal homeostasis	3248	HPGD	ORPHA:2796
HP:0012337	Abnormal homeostasis	2243	FGA	ORPHA:98880
HP:0012337	Abnormal homeostasis	2244	FGB	ORPHA:98880
HP:0012337	Abnormal homeostasis	2266	FGG	ORPHA:98880
HP:0012337	Abnormal homeostasis	3557	IL1RN	OMIM:612852
HP:0012337	Abnormal homeostasis	54	ACP5	OMIM:607944
HP:0012337	Abnormal homeostasis	2157	F8	ORPHA:169805
HP:0012337	Abnormal homeostasis	2157	F8	ORPHA:169802
HP:0012337	Abnormal homeostasis	6578	SLCO2A1	ORPHA:2796
HP:0012337	Abnormal homeostasis	3081	HGD	ORPHA:56
HP:0012337	Abnormal homeostasis	1289	COL5A1	ORPHA:287
HP:0012337	Abnormal homeostasis	1290	COL5A2	ORPHA:287
HP:0012337	Abnormal homeostasis	4921	DDR2	OMIM:618175
HP:0012337	Abnormal homeostasis	2783	GNB2	OMIM:619503
HP:0012337	Abnormal homeostasis	4982	TNFRSF11B	ORPHA:1416
HP:0012337	Abnormal homeostasis	56172	ANKH	ORPHA:1416
HP:0012337	Abnormal homeostasis	5337	PLD1	OMIM:212093
HP:0012337	Abnormal homeostasis	355	FAS	ORPHA:3261
HP:0012337	Abnormal homeostasis	356	FASLG	ORPHA:3261
HP:0012337	Abnormal homeostasis	5580	PRKCD	ORPHA:3261
HP:0012337	Abnormal homeostasis	843	CASP10	ORPHA:3261
HP:0012337	Abnormal homeostasis	10125	RASGRP1	ORPHA:3261
HP:0012337	Abnormal homeostasis	1836	SLC26A2	OMIM:600972
HP:0012337	Abnormal homeostasis	1836	SLC26A2	ORPHA:93298
HP:0012337	Abnormal homeostasis	10112	KIF20A	OMIM:619433
HP:0012337	Abnormal homeostasis	4750	NEK1	OMIM:263520
HP:0012337	Abnormal homeostasis	2632	GBE1	OMIM:232500
HP:0012337	Abnormal homeostasis	57539	WDR35	OMIM:613610
HP:0012337	Abnormal homeostasis	57539	WDR35	ORPHA:93271
HP:0012337	Abnormal homeostasis	57539	WDR35	OMIM:614091
HP:0012337	Abnormal homeostasis	4758	NEU1	OMIM:256550
HP:0012337	Abnormal homeostasis	5745	PTH1R	OMIM:215045
HP:0012337	Abnormal homeostasis	5745	PTH1R	ORPHA:50945
HP:0012337	Abnormal homeostasis	2990	GUSB	ORPHA:584
HP:0012337	Abnormal homeostasis	2990	GUSB	OMIM:253220
HP:0012337	Abnormal homeostasis	79796	ALG9	ORPHA:79328
HP:0012337	Abnormal homeostasis	4247	MGAT2	ORPHA:79329
HP:0012337	Abnormal homeostasis	6888	TALDO1	ORPHA:101028
HP:0012337	Abnormal homeostasis	55112	DYNC2I1	ORPHA:93271
HP:0012337	Abnormal homeostasis	57560	IFT80	ORPHA:93271
HP:0012337	Abnormal homeostasis	79659	DYNC2H1	ORPHA:93271
HP:0012337	Abnormal homeostasis	89891	DYNC2I2	ORPHA:93271
HP:0012337	Abnormal homeostasis	91754	NEK9	OMIM:617022
HP:0012337	Abnormal homeostasis	202018	TAPT1	OMIM:616897
HP:0012337	Abnormal homeostasis	2122	MECOM	OMIM:616738
HP:0012337	Abnormal homeostasis	2720	GLB1	ORPHA:79255
HP:0012337	Abnormal homeostasis	2720	GLB1	OMIM:230500
HP:0012337	Abnormal homeostasis	1146	CHRNG	OMIM:265000
HP:0012337	Abnormal homeostasis	427	ASAH1	ORPHA:333
HP:0012337	Abnormal homeostasis	9321	TRIP11	OMIM:200600
HP:0012337	Abnormal homeostasis	9321	TRIP11	ORPHA:93299
HP:0012337	Abnormal homeostasis	26503	SLC17A5	OMIM:269920
HP:0012337	Abnormal homeostasis	9786	KIAA0586	OMIM:616546
HP:0012337	Abnormal homeostasis	10661	KLF1	OMIM:613673
HP:0012337	Abnormal homeostasis	6261	RYR1	OMIM:255320
HP:0012337	Abnormal homeostasis	7476	WNT7A	ORPHA:2879
HP:0012337	Abnormal homeostasis	1280	COL2A1	ORPHA:85166
HP:0012337	Abnormal homeostasis	1280	COL2A1	OMIM:200610
HP:0012337	Abnormal homeostasis	2317	FLNB	ORPHA:1263
HP:0012337	Abnormal homeostasis	55109	AGGF1	ORPHA:90308
HP:0012337	Abnormal homeostasis	3339	HSPG2	ORPHA:1865
HP:0012337	Abnormal homeostasis	79053	ALG8	ORPHA:79325
HP:0012337	Abnormal homeostasis	2035	EPB41	ORPHA:288
HP:0012337	Abnormal homeostasis	2995	GYPC	ORPHA:288
HP:0012337	Abnormal homeostasis	6710	SPTB	ORPHA:288
HP:0012337	Abnormal homeostasis	6708	SPTA1	ORPHA:288
HP:0012337	Abnormal homeostasis	9896	FIG4	OMIM:216340
HP:0012337	Abnormal homeostasis	9896	FIG4	ORPHA:3472
HP:0012337	Abnormal homeostasis	191	AHCY	ORPHA:88618
HP:0012337	Abnormal homeostasis	55697	VAC14	ORPHA:3472
HP:0012337	Abnormal homeostasis	1301	COL11A1	OMIM:228520
HP:0012337	Abnormal homeostasis	4905	NSF	OMIM:619340
HP:0012337	Abnormal homeostasis	5277	PIGA	OMIM:300868
HP:0012337	Abnormal homeostasis	6007	RHD	OMIM:619462
HP:0012337	Abnormal homeostasis	146059	CDAN1	OMIM:224120
HP:0012337	Abnormal homeostasis	4591	TRIM37	OMIM:253250
HP:0012337	Abnormal homeostasis	3039	HBA1	ORPHA:163596
HP:0012337	Abnormal homeostasis	3040	HBA2	ORPHA:163596
HP:0012337	Abnormal homeostasis	3930	LBR	OMIM:215140
HP:0012337	Abnormal homeostasis	2294	FOXF1	OMIM:265380
HP:0012337	Abnormal homeostasis	55388	MCM10	OMIM:619313
HP:0012337	Abnormal homeostasis	4593	MUSK	OMIM:208150
HP:0012337	Abnormal homeostasis	5530	PPP3CA	OMIM:618265
HP:0012337	Abnormal homeostasis	1277	COL1A1	OMIM:166210
HP:0012337	Abnormal homeostasis	1278	COL1A2	OMIM:166210
HP:0012337	Abnormal homeostasis	55901	THSD1	OMIM:620244
HP:0012337	Abnormal homeostasis	54675	CRLS1	OMIM:620167
HP:0012337	Abnormal homeostasis	2629	GBA1	OMIM:608013
HP:0012337	Abnormal homeostasis	7389	UROD	ORPHA:95159
HP:0012337	Abnormal homeostasis	6331	SCN5A	OMIM:603830
HP:0012337	Abnormal homeostasis	5313	PKLR	OMIM:266200
HP:0012337	Abnormal homeostasis	6135	RPL11	ORPHA:124
HP:0012337	Abnormal homeostasis	6138	RPL15	ORPHA:124
HP:0012337	Abnormal homeostasis	6229	RPS24	ORPHA:124
HP:0012337	Abnormal homeostasis	6125	RPL5	ORPHA:124
HP:0012337	Abnormal homeostasis	6204	RPS10	ORPHA:124
HP:0012337	Abnormal homeostasis	6224	RPS20	ORPHA:124
HP:0012337	Abnormal homeostasis	6165	RPL35A	ORPHA:124
HP:0012337	Abnormal homeostasis	2623	GATA1	ORPHA:124
HP:0012337	Abnormal homeostasis	2623	GATA1	ORPHA:79277
HP:0012337	Abnormal homeostasis	6223	RPS19	ORPHA:124
HP:0012337	Abnormal homeostasis	6232	RPS27	ORPHA:124
HP:0012337	Abnormal homeostasis	6231	RPS26	ORPHA:124
HP:0012337	Abnormal homeostasis	11224	RPL35	ORPHA:124
HP:0012337	Abnormal homeostasis	6160	RPL31	ORPHA:124
HP:0012337	Abnormal homeostasis	6218	RPS17	ORPHA:124
HP:0012337	Abnormal homeostasis	6201	RPS7	ORPHA:124
HP:0012337	Abnormal homeostasis	6155	RPL27	ORPHA:124
HP:0012337	Abnormal homeostasis	6154	RPL26	ORPHA:124
HP:0012337	Abnormal homeostasis	6210	RPS15A	ORPHA:124
HP:0012337	Abnormal homeostasis	90121	TSR2	ORPHA:124
HP:0012337	Abnormal homeostasis	6141	RPL18	ORPHA:124
HP:0012337	Abnormal homeostasis	6235	RPS29	ORPHA:124
HP:0012337	Abnormal homeostasis	6234	RPS28	ORPHA:124
HP:0012337	Abnormal homeostasis	57538	ALPK3	OMIM:618052
HP:0012337	Abnormal homeostasis	4716	NDUFB10	OMIM:619003
HP:0012337	Abnormal homeostasis	55278	QRSL1	OMIM:618835
HP:0012337	Abnormal homeostasis	23426	GRIP1	OMIM:617667
HP:0012337	Abnormal homeostasis	5188	GATB	OMIM:618838
HP:0012337	Abnormal homeostasis	9971	NR1H4	OMIM:617049
HP:0012337	Abnormal homeostasis	29969	MDFIC	OMIM:620014
HP:0012337	Abnormal homeostasis	23169	SLC35D1	OMIM:269250
HP:0012337	Abnormal homeostasis	7390	UROS	ORPHA:79277
HP:0012337	Abnormal homeostasis	283459	GATC	OMIM:618839
HP:0012337	Abnormal homeostasis	56052	ALG1	OMIM:608540
HP:0012337	Abnormal homeostasis	5476	CTSA	OMIM:256540
HP:0012337	Abnormal homeostasis	5373	PMM2	OMIM:212065
HP:0012337	Abnormal homeostasis	29960	MRM2	OMIM:618567
HP:0012337	Abnormal homeostasis	3773	KCNJ16	OMIM:619406
HP:0012337	Abnormal homeostasis	5087	PBX1	ORPHA:97362
HP:0012337	Abnormal homeostasis	57128	LYRM4	OMIM:615595
HP:0012337	Abnormal homeostasis	3141	HLCS	OMIM:253270
HP:0012337	Abnormal homeostasis	3242	HPD	OMIM:140350
HP:0012337	Abnormal homeostasis	3242	HPD	ORPHA:2118
HP:0012337	Abnormal homeostasis	58528	RRAGD	OMIM:620152
HP:0012337	Abnormal homeostasis	8671	SLC4A4	OMIM:604278
HP:0012337	Abnormal homeostasis	2937	GSS	OMIM:231900
HP:0012337	Abnormal homeostasis	388753	COA6	OMIM:616501
HP:0012337	Abnormal homeostasis	10616	RBCK1	OMIM:615895
HP:0012337	Abnormal homeostasis	353	APRT	OMIM:614723
HP:0012337	Abnormal homeostasis	6821	SUOX	OMIM:272300
HP:0012337	Abnormal homeostasis	60386	SLC25A19	ORPHA:99742
HP:0012337	Abnormal homeostasis	54914	FOCAD	OMIM:619991
HP:0012337	Abnormal homeostasis	27068	PPA2	OMIM:617222
HP:0012337	Abnormal homeostasis	2271	FH	OMIM:606812
HP:0012337	Abnormal homeostasis	3762	KCNJ5	OMIM:613677
HP:0012337	Abnormal homeostasis	1807	DPYS	OMIM:222748
HP:0012337	Abnormal homeostasis	37	ACADVL	ORPHA:26793
HP:0012337	Abnormal homeostasis	65125	WNK1	OMIM:614492
HP:0012337	Abnormal homeostasis	8452	CUL3	OMIM:614496
HP:0012337	Abnormal homeostasis	1534	CYB561	OMIM:618182
HP:0012337	Abnormal homeostasis	3376	IARS1	OMIM:617093
HP:0012337	Abnormal homeostasis	54539	NDUFB11	ORPHA:2609
HP:0012337	Abnormal homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0012337	Abnormal homeostasis	284184	NDUFAF8	ORPHA:2609
HP:0012337	Abnormal homeostasis	4726	NDUFS6	ORPHA:2609
HP:0012337	Abnormal homeostasis	4709	NDUFB3	ORPHA:2609
HP:0012337	Abnormal homeostasis	80224	NUBPL	ORPHA:2609
HP:0012337	Abnormal homeostasis	23417	MLYCD	OMIM:248360
HP:0012337	Abnormal homeostasis	3481	IGF2	ORPHA:231140
HP:0012337	Abnormal homeostasis	3481	IGF2	ORPHA:397590
HP:0012337	Abnormal homeostasis	283120	H19	ORPHA:231140
HP:0012337	Abnormal homeostasis	3158	HMGCS2	ORPHA:35701
HP:0012337	Abnormal homeostasis	5015	OTX2	OMIM:613986
HP:0012337	Abnormal homeostasis	5015	OTX2	ORPHA:95494
HP:0012337	Abnormal homeostasis	5105	PCK1	OMIM:261680
HP:0012337	Abnormal homeostasis	2538	G6PC1	OMIM:232200
HP:0012337	Abnormal homeostasis	36	ACADSB	OMIM:610006
HP:0012337	Abnormal homeostasis	64087	MCCC2	OMIM:210210
HP:0012337	Abnormal homeostasis	64087	MCCC2	ORPHA:6
HP:0012337	Abnormal homeostasis	501	ALDH7A1	ORPHA:3006
HP:0012337	Abnormal homeostasis	2697	GJA1	ORPHA:2710
HP:0012337	Abnormal homeostasis	79087	ALG12	OMIM:607143
HP:0012337	Abnormal homeostasis	2688	GH1	OMIM:262400
HP:0012337	Abnormal homeostasis	5528	PPP2R5D	OMIM:616355
HP:0012337	Abnormal homeostasis	5528	PPP2R5D	ORPHA:457279
HP:0012337	Abnormal homeostasis	132158	GLYCTK	OMIM:220120
HP:0012337	Abnormal homeostasis	55065	SLC52A1	OMIM:615026
HP:0012337	Abnormal homeostasis	84342	COG8	ORPHA:95428
HP:0012337	Abnormal homeostasis	56922	MCCC1	OMIM:210200
HP:0012337	Abnormal homeostasis	56922	MCCC1	ORPHA:6
HP:0012337	Abnormal homeostasis	3265	HRAS	OMIM:218040
HP:0012337	Abnormal homeostasis	129563	DIS3L2	OMIM:267000
HP:0012337	Abnormal homeostasis	4953	ODC1	OMIM:619075
HP:0012337	Abnormal homeostasis	51594	NBAS	OMIM:616483
HP:0012337	Abnormal homeostasis	5447	POR	OMIM:201750
HP:0012337	Abnormal homeostasis	1629	DBT	OMIM:248600
HP:0012337	Abnormal homeostasis	593	BCKDHA	OMIM:248600
HP:0012337	Abnormal homeostasis	594	BCKDHB	OMIM:248600
HP:0012337	Abnormal homeostasis	8879	SGPL1	OMIM:617575
HP:0012337	Abnormal homeostasis	5255	PHKA1	OMIM:300559
HP:0012337	Abnormal homeostasis	5626	PROP1	ORPHA:226307
HP:0012337	Abnormal homeostasis	5626	PROP1	ORPHA:95494
HP:0012337	Abnormal homeostasis	5626	PROP1	ORPHA:90695
HP:0012337	Abnormal homeostasis	89884	LHX4	ORPHA:226307
HP:0012337	Abnormal homeostasis	89884	LHX4	ORPHA:95496
HP:0012337	Abnormal homeostasis	89884	LHX4	ORPHA:95494
HP:0012337	Abnormal homeostasis	89884	LHX4	OMIM:262700
HP:0012337	Abnormal homeostasis	8022	LHX3	ORPHA:226307
HP:0012337	Abnormal homeostasis	5449	POU1F1	ORPHA:226307
HP:0012337	Abnormal homeostasis	5449	POU1F1	ORPHA:95494
HP:0012337	Abnormal homeostasis	8820	HESX1	ORPHA:226307
HP:0012337	Abnormal homeostasis	8820	HESX1	ORPHA:95496
HP:0012337	Abnormal homeostasis	8820	HESX1	ORPHA:95494
HP:0012337	Abnormal homeostasis	55699	IARS2	OMIM:616007
HP:0012337	Abnormal homeostasis	4519	MT-CYB	ORPHA:137675
HP:0012337	Abnormal homeostasis	79753	SNIP1	OMIM:614501
HP:0012337	Abnormal homeostasis	5728	PTEN	ORPHA:109
HP:0012337	Abnormal homeostasis	10056	FARSB	OMIM:613658
HP:0012337	Abnormal homeostasis	128674	PROKR2	ORPHA:95496
HP:0012337	Abnormal homeostasis	55717	WDR11	ORPHA:95496
HP:0012337	Abnormal homeostasis	6091	ROBO1	ORPHA:95496
HP:0012337	Abnormal homeostasis	50937	CDON	ORPHA:95496
HP:0012337	Abnormal homeostasis	23432	GPR161	ORPHA:95496
HP:0012337	Abnormal homeostasis	2203	FBP1	ORPHA:348
HP:0012337	Abnormal homeostasis	2203	FBP1	OMIM:229700
HP:0012337	Abnormal homeostasis	2736	GLI2	ORPHA:95494
HP:0012337	Abnormal homeostasis	3170	FOXA2	ORPHA:95494
HP:0012337	Abnormal homeostasis	1028	CDKN1C	ORPHA:397590
HP:0012337	Abnormal homeostasis	5324	PLAG1	ORPHA:397590
HP:0012337	Abnormal homeostasis	8091	HMGA2	ORPHA:397590
HP:0012337	Abnormal homeostasis	4665	NAB2	ORPHA:2126
HP:0012337	Abnormal homeostasis	6778	STAT6	ORPHA:2126
HP:0012337	Abnormal homeostasis	471	ATIC	OMIM:608688
HP:0012337	Abnormal homeostasis	34	ACADM	ORPHA:42
HP:0012337	Abnormal homeostasis	34	ACADM	OMIM:201450
HP:0012337	Abnormal homeostasis	775	CACNA1C	OMIM:601005
HP:0012337	Abnormal homeostasis	7030	TFE3	OMIM:301066
HP:0012337	Abnormal homeostasis	2239	GPC4	ORPHA:373
HP:0012337	Abnormal homeostasis	2719	GPC3	ORPHA:373
HP:0012337	Abnormal homeostasis	54941	RNF125	OMIM:616260
HP:0012337	Abnormal homeostasis	2184	FAH	OMIM:276700
HP:0012337	Abnormal homeostasis	178	AGL	ORPHA:366
HP:0012337	Abnormal homeostasis	178	AGL	OMIM:232400
HP:0012337	Abnormal homeostasis	6658	SOX3	ORPHA:90695
HP:0012337	Abnormal homeostasis	91949	COG7	OMIM:608779
HP:0012337	Abnormal homeostasis	2690	GHR	ORPHA:314802
HP:0012337	Abnormal homeostasis	2690	GHR	ORPHA:633
HP:0012337	Abnormal homeostasis	5009	OTC	ORPHA:664
HP:0012337	Abnormal homeostasis	549	AUH	ORPHA:67046
HP:0012337	Abnormal homeostasis	10525	HYOU1	OMIM:233600
HP:0012337	Abnormal homeostasis	2710	GK	OMIM:307030
HP:0012337	Abnormal homeostasis	2592	GALT	ORPHA:79239
HP:0012337	Abnormal homeostasis	2530	FUT8	OMIM:618005
HP:0012337	Abnormal homeostasis	7019	TFAM	OMIM:617156
HP:0012337	Abnormal homeostasis	4358	MPV17	OMIM:256810
HP:0012337	Abnormal homeostasis	538	ATP7A	ORPHA:565
HP:0012337	Abnormal homeostasis	2475	MTOR	OMIM:616638
HP:0012337	Abnormal homeostasis	55186	SLC25A36	OMIM:620211
HP:0012337	Abnormal homeostasis	2584	GALK1	ORPHA:79237
HP:0012337	Abnormal homeostasis	1589	CYP21A2	OMIM:201910
HP:0012337	Abnormal homeostasis	51241	COX16	OMIM:619355
HP:0012337	Abnormal homeostasis	54809	SAMD9	OMIM:617053
HP:0012337	Abnormal homeostasis	9150	CTDP1	ORPHA:48431
HP:0012337	Abnormal homeostasis	788	SLC25A20	OMIM:212138
HP:0012337	Abnormal homeostasis	80036	TRPM3	OMIM:620224
HP:0012337	Abnormal homeostasis	5106	PCK2	OMIM:261650
HP:0012337	Abnormal homeostasis	93587	TRMT10A	ORPHA:391408
HP:0012337	Abnormal homeostasis	84919	PPP1R15B	ORPHA:391408
HP:0012337	Abnormal homeostasis	3030	HADHA	OMIM:609016
HP:0012337	Abnormal homeostasis	3030	HADHA	ORPHA:5
HP:0012337	Abnormal homeostasis	5495	PPM1B	ORPHA:163693
HP:0012337	Abnormal homeostasis	6519	SLC3A1	ORPHA:163693
HP:0012337	Abnormal homeostasis	9581	PREPL	ORPHA:163693
HP:0012337	Abnormal homeostasis	79823	CAMKMT	ORPHA:163693
HP:0012337	Abnormal homeostasis	55252	ASXL2	OMIM:617190
HP:0012337	Abnormal homeostasis	1376	CPT2	OMIM:608836
HP:0012337	Abnormal homeostasis	4791	NFKB2	OMIM:615577
HP:0012337	Abnormal homeostasis	5236	PGM1	OMIM:614921
HP:0012337	Abnormal homeostasis	2639	GCDH	OMIM:231670
HP:0012337	Abnormal homeostasis	1968	EIF2S3	OMIM:300148
HP:0012337	Abnormal homeostasis	2693	GHSR	ORPHA:314811
HP:0012337	Abnormal homeostasis	2108	ETFA	OMIM:231680
HP:0012337	Abnormal homeostasis	2109	ETFB	OMIM:231680
HP:0012337	Abnormal homeostasis	2110	ETFDH	OMIM:231680
HP:0012337	Abnormal homeostasis	1497	CTNS	OMIM:219800
HP:0012337	Abnormal homeostasis	1497	CTNS	ORPHA:411629
HP:0012337	Abnormal homeostasis	1497	CTNS	ORPHA:411634
HP:0012337	Abnormal homeostasis	6809	STX3	ORPHA:2290
HP:0012337	Abnormal homeostasis	4645	MYO5B	ORPHA:2290
HP:0012337	Abnormal homeostasis	4645	MYO5B	OMIM:251850
HP:0012337	Abnormal homeostasis	79827	CLMP	OMIM:615237
HP:0012337	Abnormal homeostasis	3909	LAMA3	ORPHA:79404
HP:0012337	Abnormal homeostasis	3918	LAMC2	ORPHA:79404
HP:0012337	Abnormal homeostasis	3914	LAMB3	ORPHA:79404
HP:0012337	Abnormal homeostasis	6523	SLC5A1	ORPHA:35710
HP:0012337	Abnormal homeostasis	3284	HSD3B2	ORPHA:90791
HP:0012337	Abnormal homeostasis	4072	EPCAM	ORPHA:92050
HP:0012337	Abnormal homeostasis	105371045	PERCC1	ORPHA:92050
HP:0012337	Abnormal homeostasis	2212	FCGR2A	OMIM:219700
HP:0012337	Abnormal homeostasis	7040	TGFB1	OMIM:219700
HP:0012337	Abnormal homeostasis	1080	CFTR	OMIM:219700
HP:0012337	Abnormal homeostasis	3938	LCT	OMIM:223000
HP:0012337	Abnormal homeostasis	114548	NLRP3	ORPHA:47045
HP:0012337	Abnormal homeostasis	1956	EGFR	OMIM:616069
HP:0012337	Abnormal homeostasis	1585	CYP11B2	OMIM:203400
HP:0012337	Abnormal homeostasis	1585	CYP11B2	OMIM:610600
HP:0012337	Abnormal homeostasis	1585	CYP11B2	ORPHA:556030
HP:0012337	Abnormal homeostasis	4594	MMUT	OMIM:251000
HP:0012337	Abnormal homeostasis	4594	MMUT	ORPHA:79312
HP:0012337	Abnormal homeostasis	84693	MCEE	OMIM:251120
HP:0012337	Abnormal homeostasis	5095	PCCA	OMIM:606054
HP:0012337	Abnormal homeostasis	5096	PCCB	OMIM:606054
HP:0012337	Abnormal homeostasis	3712	IVD	OMIM:243500
HP:0012337	Abnormal homeostasis	1583	CYP11A1	ORPHA:289548
HP:0012337	Abnormal homeostasis	1583	CYP11A1	ORPHA:168558
HP:0012337	Abnormal homeostasis	6557	SLC12A1	OMIM:601678
HP:0012337	Abnormal homeostasis	3758	KCNJ1	OMIM:241200
HP:0012337	Abnormal homeostasis	1591	CYP24A1	OMIM:143880
HP:0012337	Abnormal homeostasis	326625	MMAB	OMIM:251110
HP:0012337	Abnormal homeostasis	151516	ASPRV1	ORPHA:313
HP:0012337	Abnormal homeostasis	242	ALOX12B	ORPHA:313
HP:0012337	Abnormal homeostasis	126410	CYP4F22	ORPHA:313
HP:0012337	Abnormal homeostasis	6820	SULT2B1	ORPHA:313
HP:0012337	Abnormal homeostasis	26154	ABCA12	ORPHA:313
HP:0012337	Abnormal homeostasis	26154	ABCA12	ORPHA:457
HP:0012337	Abnormal homeostasis	643418	LIPN	ORPHA:313
HP:0012337	Abnormal homeostasis	59344	ALOXE3	ORPHA:313
HP:0012337	Abnormal homeostasis	348938	NIPAL4	ORPHA:313
HP:0012337	Abnormal homeostasis	121214	SDR9C7	ORPHA:313
HP:0012337	Abnormal homeostasis	7051	TGM1	ORPHA:313
HP:0012337	Abnormal homeostasis	7809	BSND	ORPHA:89938
HP:0012337	Abnormal homeostasis	1187	CLCNKA	ORPHA:89938
HP:0012337	Abnormal homeostasis	5314	PKHD1	OMIM:263200
HP:0012337	Abnormal homeostasis	189	AGXT	OMIM:259900
HP:0012337	Abnormal homeostasis	773	CACNA1A	ORPHA:2131
HP:0012337	Abnormal homeostasis	6507	SLC1A3	ORPHA:2131
HP:0012337	Abnormal homeostasis	477	ATP1A2	ORPHA:2131
HP:0012337	Abnormal homeostasis	478	ATP1A3	ORPHA:2131
HP:0012337	Abnormal homeostasis	190	NR0B1	OMIM:300200
HP:0012337	Abnormal homeostasis	6340	SCNN1G	ORPHA:171876
HP:0012337	Abnormal homeostasis	6340	SCNN1G	OMIM:620126
HP:0012337	Abnormal homeostasis	6337	SCNN1A	ORPHA:171876
HP:0012337	Abnormal homeostasis	6337	SCNN1A	OMIM:264350
HP:0012337	Abnormal homeostasis	4306	NR3C2	OMIM:177735
HP:0012337	Abnormal homeostasis	1962	EHHADH	ORPHA:3337
HP:0012337	Abnormal homeostasis	2628	GATM	ORPHA:3337
HP:0012337	Abnormal homeostasis	6569	SLC34A1	ORPHA:3337
HP:0012337	Abnormal homeostasis	1027	CDKN1B	ORPHA:652
HP:0012337	Abnormal homeostasis	1026	CDKN1A	ORPHA:652
HP:0012337	Abnormal homeostasis	1030	CDKN2B	ORPHA:652
HP:0012337	Abnormal homeostasis	1031	CDKN2C	ORPHA:652
HP:0012337	Abnormal homeostasis	55898	UNC45A	OMIM:619377
HP:0012337	Abnormal homeostasis	25974	MMACHC	ORPHA:79282
HP:0012337	Abnormal homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0012337	Abnormal homeostasis	204	AK2	ORPHA:33355
HP:0012337	Abnormal homeostasis	6929	TCF3	ORPHA:33110
HP:0012337	Abnormal homeostasis	973	CD79A	ORPHA:33110
HP:0012337	Abnormal homeostasis	974	CD79B	ORPHA:33110
HP:0012337	Abnormal homeostasis	3543	IGLL1	ORPHA:33110
HP:0012337	Abnormal homeostasis	3507	IGHM	ORPHA:33110
HP:0012337	Abnormal homeostasis	29760	BLNK	ORPHA:33110
HP:0012337	Abnormal homeostasis	56262	LRRC8A	ORPHA:33110
HP:0012337	Abnormal homeostasis	6584	SLC22A5	OMIM:212140
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:397
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:117
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:29207
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:36426
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:3287
HP:0012337	Abnormal homeostasis	8974	P4HA2	ORPHA:397
HP:0012337	Abnormal homeostasis	144811	LACC1	ORPHA:85414
HP:0012337	Abnormal homeostasis	4282	MIF	ORPHA:85414
HP:0012337	Abnormal homeostasis	8573	CASK	OMIM:300908
HP:0012337	Abnormal homeostasis	2539	G6PD	OMIM:300908
HP:0012337	Abnormal homeostasis	171023	ASXL1	ORPHA:98849
HP:0012337	Abnormal homeostasis	6427	SRSF2	ORPHA:98849
HP:0012337	Abnormal homeostasis	6556	SLC11A1	ORPHA:3389
HP:0012337	Abnormal homeostasis	2038	EPB42	ORPHA:822
HP:0012337	Abnormal homeostasis	6521	SLC4A1	ORPHA:822
HP:0012337	Abnormal homeostasis	286	ANK1	ORPHA:822
HP:0012337	Abnormal homeostasis	249	ALPL	OMIM:241500
HP:0012337	Abnormal homeostasis	939	CD27	OMIM:615122
HP:0012337	Abnormal homeostasis	84936	ZFYVE19	OMIM:619849
HP:0012337	Abnormal homeostasis	1991	ELANE	OMIM:162800
HP:0012337	Abnormal homeostasis	1991	ELANE	ORPHA:486
HP:0012337	Abnormal homeostasis	1536	CYBB	ORPHA:379
HP:0012337	Abnormal homeostasis	1536	CYBB	OMIM:306400
HP:0012337	Abnormal homeostasis	4688	NCF2	ORPHA:379
HP:0012337	Abnormal homeostasis	1535	CYBA	ORPHA:379
HP:0012337	Abnormal homeostasis	4689	NCF4	ORPHA:379
HP:0012337	Abnormal homeostasis	79415	CYBC1	ORPHA:379
HP:0012337	Abnormal homeostasis	79415	CYBC1	OMIM:618935
HP:0012337	Abnormal homeostasis	5699	PSMB10	OMIM:619175
HP:0012337	Abnormal homeostasis	5896	RAG1	ORPHA:331206
HP:0012337	Abnormal homeostasis	5896	RAG1	ORPHA:39041
HP:0012337	Abnormal homeostasis	5897	RAG2	ORPHA:331206
HP:0012337	Abnormal homeostasis	5897	RAG2	ORPHA:39041
HP:0012337	Abnormal homeostasis	5621	PRNP	OMIM:600072
HP:0012337	Abnormal homeostasis	1130	LYST	ORPHA:167
HP:0012337	Abnormal homeostasis	23400	ATP13A2	ORPHA:306674
HP:0012337	Abnormal homeostasis	58484	NLRC4	OMIM:616115
HP:0012337	Abnormal homeostasis	58484	NLRC4	OMIM:616050
HP:0012337	Abnormal homeostasis	1244	ABCC2	ORPHA:234
HP:0012337	Abnormal homeostasis	595	CCND1	ORPHA:52416
HP:0012337	Abnormal homeostasis	472	ATM	ORPHA:52416
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:52416
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:52417
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:545
HP:0012337	Abnormal homeostasis	330	BIRC3	ORPHA:52417
HP:0012337	Abnormal homeostasis	10892	MALT1	ORPHA:52417
HP:0012337	Abnormal homeostasis	27086	FOXP1	ORPHA:52417
HP:0012337	Abnormal homeostasis	8915	BCL10	ORPHA:52417
HP:0012337	Abnormal homeostasis	7454	WAS	ORPHA:906
HP:0012337	Abnormal homeostasis	7456	WIPF1	ORPHA:906
HP:0012337	Abnormal homeostasis	2624	GATA2	ORPHA:3226
HP:0012337	Abnormal homeostasis	51284	TLR7	OMIM:301080
HP:0012337	Abnormal homeostasis	11330	CTRC	OMIM:167800
HP:0012337	Abnormal homeostasis	6690	SPINK1	OMIM:167800
HP:0012337	Abnormal homeostasis	5645	PRSS2	OMIM:167800
HP:0012337	Abnormal homeostasis	5644	PRSS1	OMIM:167800
HP:0012337	Abnormal homeostasis	4210	MEFV	ORPHA:342
HP:0012337	Abnormal homeostasis	4210	MEFV	ORPHA:117
HP:0012337	Abnormal homeostasis	23175	LPIN1	OMIM:268200
HP:0012337	Abnormal homeostasis	23175	LPIN1	ORPHA:99845
HP:0012337	Abnormal homeostasis	3575	IL7R	ORPHA:169154
HP:0012337	Abnormal homeostasis	3575	IL7R	ORPHA:39041
HP:0012337	Abnormal homeostasis	8676	STX11	OMIM:603552
HP:0012337	Abnormal homeostasis	8676	STX11	ORPHA:540
HP:0012337	Abnormal homeostasis	554	AVPR2	ORPHA:223
HP:0012337	Abnormal homeostasis	359	AQP2	ORPHA:223
HP:0012337	Abnormal homeostasis	64135	IFIH1	OMIM:615846
HP:0012337	Abnormal homeostasis	11128	POLR3A	ORPHA:3455
HP:0012337	Abnormal homeostasis	695	BTK	ORPHA:47
HP:0012337	Abnormal homeostasis	2153	F5	ORPHA:131
HP:0012337	Abnormal homeostasis	84868	HAVCR2	ORPHA:86884
HP:0012337	Abnormal homeostasis	84868	HAVCR2	OMIM:618398
HP:0012337	Abnormal homeostasis	6583	SLC22A4	OMIM:180300
HP:0012337	Abnormal homeostasis	4261	CIITA	OMIM:180300
HP:0012337	Abnormal homeostasis	51744	CD244	OMIM:180300
HP:0012337	Abnormal homeostasis	4795	NFKBIL1	OMIM:180300
HP:0012337	Abnormal homeostasis	3586	IL10	OMIM:180300
HP:0012337	Abnormal homeostasis	3586	IL10	ORPHA:117
HP:0012337	Abnormal homeostasis	64127	NOD2	ORPHA:90340
HP:0012337	Abnormal homeostasis	1967	EIF2B1	OMIM:603896
HP:0012337	Abnormal homeostasis	10312	TCIRG1	ORPHA:486
HP:0012337	Abnormal homeostasis	2672	GFI1	ORPHA:486
HP:0012337	Abnormal homeostasis	6729	SRP54	ORPHA:486
HP:0012337	Abnormal homeostasis	226	ALDOA	ORPHA:57
HP:0012337	Abnormal homeostasis	2000	ELF4	OMIM:301074
HP:0012337	Abnormal homeostasis	10568	SLC34A2	ORPHA:60025
HP:0012337	Abnormal homeostasis	667	DST	OMIM:614653
HP:0012337	Abnormal homeostasis	3394	IRF8	OMIM:614893
HP:0012337	Abnormal homeostasis	3394	IRF8	OMIM:226990
HP:0012337	Abnormal homeostasis	3394	IRF8	ORPHA:319600
HP:0012337	Abnormal homeostasis	3078	CFHR1	OMIM:235400
HP:0012337	Abnormal homeostasis	10878	CFHR3	OMIM:235400
HP:0012337	Abnormal homeostasis	2068	ERCC2	ORPHA:910
HP:0012337	Abnormal homeostasis	7507	XPA	ORPHA:910
HP:0012337	Abnormal homeostasis	2071	ERCC3	ORPHA:910
HP:0012337	Abnormal homeostasis	7508	XPC	ORPHA:910
HP:0012337	Abnormal homeostasis	1643	DDB2	ORPHA:910
HP:0012337	Abnormal homeostasis	2072	ERCC4	ORPHA:910
HP:0012337	Abnormal homeostasis	2073	ERCC5	ORPHA:910
HP:0012337	Abnormal homeostasis	149233	IL23R	ORPHA:117
HP:0012337	Abnormal homeostasis	1230	CCR1	ORPHA:117
HP:0012337	Abnormal homeostasis	3592	IL12A	ORPHA:117
HP:0012337	Abnormal homeostasis	101928376	IL12A-AS1	ORPHA:117
HP:0012337	Abnormal homeostasis	7099	TLR4	ORPHA:117
HP:0012337	Abnormal homeostasis	3459	IFNGR1	ORPHA:117
HP:0012337	Abnormal homeostasis	3459	IFNGR1	OMIM:209950
HP:0012337	Abnormal homeostasis	720	C4A	ORPHA:117
HP:0012337	Abnormal homeostasis	337867	UBAC2	ORPHA:117
HP:0012337	Abnormal homeostasis	51752	ERAP1	ORPHA:117
HP:0012337	Abnormal homeostasis	8302	KLRC4	ORPHA:117
HP:0012337	Abnormal homeostasis	7187	TRAF3	ORPHA:1930
HP:0012337	Abnormal homeostasis	81622	UNC93B1	ORPHA:1930
HP:0012337	Abnormal homeostasis	148022	TICAM1	ORPHA:1930
HP:0012337	Abnormal homeostasis	7098	TLR3	ORPHA:1930
HP:0012337	Abnormal homeostasis	29110	TBK1	ORPHA:1930
HP:0012337	Abnormal homeostasis	201294	UNC13D	OMIM:608898
HP:0012337	Abnormal homeostasis	201294	UNC13D	ORPHA:540
HP:0012337	Abnormal homeostasis	331	XIAP	OMIM:300635
HP:0012337	Abnormal homeostasis	3932	LCK	OMIM:615758
HP:0012337	Abnormal homeostasis	3875	KRT18	OMIM:215600
HP:0012337	Abnormal homeostasis	6696	SPP1	ORPHA:93552
HP:0012337	Abnormal homeostasis	3654	IRAK1	ORPHA:93552
HP:0012337	Abnormal homeostasis	9256	TSPOAP1	ORPHA:101150
HP:0012337	Abnormal homeostasis	7054	TH	ORPHA:101150
HP:0012337	Abnormal homeostasis	596	BCL2	ORPHA:545
HP:0012337	Abnormal homeostasis	604	BCL6	ORPHA:545
HP:0012337	Abnormal homeostasis	5925	RB1	ORPHA:668
HP:0012337	Abnormal homeostasis	11200	CHEK2	ORPHA:668
HP:0012337	Abnormal homeostasis	6813	STXBP2	ORPHA:540
HP:0012337	Abnormal homeostasis	6813	STXBP2	OMIM:613101
HP:0012337	Abnormal homeostasis	11277	TREX1	OMIM:225750
HP:0012337	Abnormal homeostasis	23095	KIF1B	OMIM:256700
HP:0012337	Abnormal homeostasis	3350	HTR1A	OMIM:614674
HP:0012337	Abnormal homeostasis	672	BRCA1	ORPHA:70567
HP:0012337	Abnormal homeostasis	675	BRCA2	ORPHA:70567
HP:0012337	Abnormal homeostasis	675	BRCA2	ORPHA:654
HP:0012337	Abnormal homeostasis	5774	PTPN3	ORPHA:70567
HP:0012337	Abnormal homeostasis	5978	REST	ORPHA:654
HP:0012337	Abnormal homeostasis	9319	TRIP13	ORPHA:654
HP:0012337	Abnormal homeostasis	10155	TRIM28	ORPHA:654
HP:0012337	Abnormal homeostasis	11281	POU6F2	ORPHA:654
HP:0012337	Abnormal homeostasis	9663	LPIN2	ORPHA:77297
HP:0012337	Abnormal homeostasis	915	CD3D	ORPHA:169160
HP:0012337	Abnormal homeostasis	916	CD3E	ORPHA:169160
HP:0012337	Abnormal homeostasis	10320	IKZF1	ORPHA:36426
HP:0012337	Abnormal homeostasis	10588	MTHFS	OMIM:618367
HP:0012337	Abnormal homeostasis	26525	IL36RN	OMIM:614204
HP:0012337	Abnormal homeostasis	2717	GLA	ORPHA:324
HP:0012337	Abnormal homeostasis	5903	RANBP2	ORPHA:88619
HP:0012337	Abnormal homeostasis	3977	LIFR	OMIM:601559
HP:0012337	Abnormal homeostasis	54681	P4HTM	OMIM:618493
HP:0012337	Abnormal homeostasis	1380	CR2	OMIM:614699
HP:0012337	Abnormal homeostasis	5873	RAB27A	ORPHA:79477
HP:0012337	Abnormal homeostasis	5873	RAB27A	OMIM:607624
HP:0012337	Abnormal homeostasis	55975	KLHL7	OMIM:617055
HP:0012337	Abnormal homeostasis	10019	SH2B3	OMIM:254450
HP:0012337	Abnormal homeostasis	2548	GAA	OMIM:232300
HP:0012337	Abnormal homeostasis	6023	RMRP	ORPHA:39041
HP:0012337	Abnormal homeostasis	55636	CHD7	ORPHA:39041
HP:0012337	Abnormal homeostasis	3981	LIG4	ORPHA:39041
HP:0012337	Abnormal homeostasis	64421	DCLRE1C	ORPHA:39041
HP:0012337	Abnormal homeostasis	100	ADA	ORPHA:39041
HP:0012337	Abnormal homeostasis	3561	IL2RG	ORPHA:39041
HP:0012337	Abnormal homeostasis	374879	ZNF699	OMIM:619488
HP:0012337	Abnormal homeostasis	60468	BACH2	OMIM:618394
HP:0012337	Abnormal homeostasis	5788	PTPRC	OMIM:619924
HP:0012337	Abnormal homeostasis	5294	PIK3CG	OMIM:619802
HP:0012337	Abnormal homeostasis	50485	SMARCAL1	OMIM:242900
HP:0012337	Abnormal homeostasis	5573	PRKAR1A	ORPHA:615
HP:0012337	Abnormal homeostasis	5573	PRKAR1A	ORPHA:520
HP:0012337	Abnormal homeostasis	3988	LIPA	ORPHA:75233
HP:0012337	Abnormal homeostasis	2215	FCGR3B	ORPHA:464370
HP:0012337	Abnormal homeostasis	551	AVP	ORPHA:30925
HP:0012337	Abnormal homeostasis	3458	IFNG	OMIM:618963
HP:0012337	Abnormal homeostasis	3593	IL12B	ORPHA:3287
HP:0012337	Abnormal homeostasis	6945	MLX	ORPHA:3287
HP:0012337	Abnormal homeostasis	57410	SCYL1	ORPHA:466794
HP:0012337	Abnormal homeostasis	613	BCR	ORPHA:521
HP:0012337	Abnormal homeostasis	25	ABL1	ORPHA:521
HP:0012337	Abnormal homeostasis	861	RUNX1	ORPHA:521
HP:0012337	Abnormal homeostasis	5371	PML	ORPHA:520
HP:0012337	Abnormal homeostasis	5914	RARA	ORPHA:520
HP:0012337	Abnormal homeostasis	359948	IRF2BP2	ORPHA:520
HP:0012337	Abnormal homeostasis	81608	FIP1L1	ORPHA:520
HP:0012337	Abnormal homeostasis	4869	NPM1	ORPHA:520
HP:0012337	Abnormal homeostasis	54880	BCOR	ORPHA:520
HP:0012337	Abnormal homeostasis	64859	NABP1	ORPHA:520
HP:0012337	Abnormal homeostasis	6777	STAT5B	ORPHA:520
HP:0012337	Abnormal homeostasis	4926	NUMA1	ORPHA:520
HP:0012337	Abnormal homeostasis	7704	ZBTB16	ORPHA:520
HP:0012337	Abnormal homeostasis	79718	TBL1XR1	ORPHA:520
HP:0012337	Abnormal homeostasis	1371	CPOX	ORPHA:79273
HP:0012337	Abnormal homeostasis	3145	HMBS	ORPHA:79276
HP:0012337	Abnormal homeostasis	1374	CPT1A	ORPHA:156
HP:0012337	Abnormal homeostasis	1374	CPT1A	OMIM:255120
HP:0012337	Abnormal homeostasis	525	ATP6V1B1	OMIM:267300
HP:0012337	Abnormal homeostasis	57551	TAOK1	OMIM:619575
HP:0012337	Abnormal homeostasis	4853	NOTCH2	OMIM:610205
HP:0012337	Abnormal homeostasis	26276	VPS33B	OMIM:208085
HP:0012337	Abnormal homeostasis	5256	PHKA2	ORPHA:264580
HP:0012337	Abnormal homeostasis	790	CAD	OMIM:616457
HP:0012337	Abnormal homeostasis	182	JAG1	OMIM:118450
HP:0012337	Abnormal homeostasis	63894	VIPAS39	OMIM:613404
HP:0012337	Abnormal homeostasis	57724	EPG5	ORPHA:1493
HP:0012337	Abnormal homeostasis	8942	KYNU	ORPHA:79155
HP:0012337	Abnormal homeostasis	760	CA2	ORPHA:2785
HP:0012337	Abnormal homeostasis	1811	SLC26A3	OMIM:214700
HP:0012337	Abnormal homeostasis	6338	SCNN1B	OMIM:177200
HP:0012337	Abnormal homeostasis	1586	CYP17A1	OMIM:202110
HP:0012337	Abnormal homeostasis	435	ASL	OMIM:207900
HP:0012337	Abnormal homeostasis	445	ASS1	OMIM:215700
HP:0012337	Abnormal homeostasis	1373	CPS1	OMIM:237300
HP:0012337	Abnormal homeostasis	10166	SLC25A15	ORPHA:415
HP:0012337	Abnormal homeostasis	64324	NSD1	OMIM:117550
HP:0012337	Abnormal homeostasis	116519	APOA5	OMIM:145750
HP:0012337	Abnormal homeostasis	5566	PRKACA	ORPHA:189439
HP:0012337	Abnormal homeostasis	8622	PDE8B	ORPHA:189439
HP:0012337	Abnormal homeostasis	50940	PDE11A	ORPHA:189439
HP:0012337	Abnormal homeostasis	212	ALAS2	ORPHA:75563
HP:0012337	Abnormal homeostasis	26137	ZBTB20	OMIM:259050
HP:0012337	Abnormal homeostasis	2778	GNAS	ORPHA:189427
HP:0012337	Abnormal homeostasis	5080	PAX6	OMIM:106210
HP:0012337	Abnormal homeostasis	650	BMP2	OMIM:235200
HP:0012337	Abnormal homeostasis	63924	CIDEC	OMIM:615238
HP:0012337	Abnormal homeostasis	8518	ELP1	OMIM:223900
HP:0012337	Abnormal homeostasis	970	CD70	OMIM:618261
HP:0012337	Abnormal homeostasis	30011	SH3KBP1	OMIM:300310
HP:0012337	Abnormal homeostasis	90268	OTULIN	OMIM:617099
HP:0012337	Abnormal homeostasis	8367	H4C5	OMIM:619950
HP:0012337	Abnormal homeostasis	1053	CEBPE	OMIM:260570
HP:0012337	Abnormal homeostasis	3043	HBB	ORPHA:231214
HP:0012337	Abnormal homeostasis	3043	HBB	ORPHA:231226
HP:0012337	Abnormal homeostasis	3702	ITK	OMIM:613011
HP:0012337	Abnormal homeostasis	85446	ZFHX2	OMIM:147430
HP:0012337	Abnormal homeostasis	5190	PEX6	OMIM:614863
HP:0012337	Abnormal homeostasis	4598	MVK	OMIM:260920
HP:0012337	Abnormal homeostasis	4598	MVK	ORPHA:343
HP:0012337	Abnormal homeostasis	100151683	RNU4ATAC	OMIM:210710
HP:0012337	Abnormal homeostasis	2643	GCH1	OMIM:233910
HP:0012337	Abnormal homeostasis	4803	NGF	OMIM:608654
HP:0012337	Abnormal homeostasis	718	C3	OMIM:613779
HP:0012337	Abnormal homeostasis	3190	HNRNPK	ORPHA:453504
HP:0012337	Abnormal homeostasis	3190	HNRNPK	ORPHA:352665
HP:0012337	Abnormal homeostasis	7317	UBA1	OMIM:301054
HP:0012337	Abnormal homeostasis	57169	ZNFX1	OMIM:619644
HP:0012337	Abnormal homeostasis	9948	WDR1	OMIM:150550
HP:0012337	Abnormal homeostasis	22861	NLRP1	OMIM:617388
HP:0012337	Abnormal homeostasis	91662	NLRP12	OMIM:611762
HP:0012337	Abnormal homeostasis	5376	PMP22	ORPHA:98916
HP:0012337	Abnormal homeostasis	4068	SH2D1A	OMIM:308240
HP:0012337	Abnormal homeostasis	5805	PTS	OMIM:261640
HP:0012337	Abnormal homeostasis	5966	REL	OMIM:619652
HP:0012337	Abnormal homeostasis	10134	BCAP31	ORPHA:369939
HP:0012337	Abnormal homeostasis	7128	TNFAIP3	OMIM:616744
HP:0012337	Abnormal homeostasis	84876	ORAI1	OMIM:612782
HP:0012337	Abnormal homeostasis	6786	STIM1	OMIM:612783
HP:0012337	Abnormal homeostasis	340061	STING1	OMIM:615934
HP:0012337	Abnormal homeostasis	506	ATP5F1B	OMIM:620085
HP:0012337	Abnormal homeostasis	56984	PSMG2	OMIM:619183
HP:0012337	Abnormal homeostasis	6850	SYK	OMIM:619381
HP:0012337	Abnormal homeostasis	5860	QDPR	OMIM:261630
HP:0012337	Abnormal homeostasis	205327	C2orf69	OMIM:619423
HP:0012337	Abnormal homeostasis	8737	RIPK1	OMIM:618852
HP:0012337	Abnormal homeostasis	254428	SLC41A1	OMIM:619468
HP:0012337	Abnormal homeostasis	341208	HEPHL1	OMIM:261990
HP:0012337	Abnormal homeostasis	1794	DOCK2	OMIM:616433
HP:0012337	Abnormal homeostasis	9244	CRLF1	OMIM:272430
HP:0012337	Abnormal homeostasis	165918	RNF168	ORPHA:420741
HP:0012337	Abnormal homeostasis	80216	ALPK1	OMIM:614979
HP:0012337	Abnormal homeostasis	4914	NTRK1	ORPHA:642
HP:0012337	Abnormal homeostasis	55858	TMEM165	OMIM:614727
HP:0012337	Abnormal homeostasis	2581	GALC	ORPHA:206436
HP:0012337	Abnormal homeostasis	5660	PSAP	ORPHA:206436
HP:0012337	Abnormal homeostasis	10535	RNASEH2A	ORPHA:51
HP:0012337	Abnormal homeostasis	84153	RNASEH2C	ORPHA:51
HP:0012337	Abnormal homeostasis	25939	SAMHD1	ORPHA:51
HP:0012337	Abnormal homeostasis	79621	RNASEH2B	ORPHA:51
HP:0012337	Abnormal homeostasis	103	ADAR	ORPHA:51
HP:0012337	Abnormal homeostasis	100147744	RNU7-1	ORPHA:51
HP:0012337	Abnormal homeostasis	134353	LSM11	ORPHA:51
HP:0012337	Abnormal homeostasis	7080	NKX2-1	ORPHA:209905
HP:0012337	Abnormal homeostasis	5979	RET	ORPHA:1848
HP:0012337	Abnormal homeostasis	8516	ITGA8	ORPHA:1848
HP:0012337	Abnormal homeostasis	26281	FGF20	ORPHA:1848
HP:0012337	Abnormal homeostasis	2674	GFRA1	ORPHA:1848
HP:0012337	Abnormal homeostasis	7484	WNT9B	ORPHA:1848
HP:0012337	Abnormal homeostasis	80000	GREB1L	ORPHA:1848
HP:0012337	Abnormal homeostasis	3291	HSD11B2	ORPHA:320
HP:0012337	Abnormal homeostasis	3766	KCNJ10	OMIM:612780
HP:0012337	Abnormal homeostasis	3032	HADHB	ORPHA:746
HP:0012337	Abnormal homeostasis	22845	DOLK	OMIM:610768
HP:0012337	Abnormal homeostasis	5058	PAK1	OMIM:618158
HP:0012337	Abnormal homeostasis	79783	SUGCT	ORPHA:35706
HP:0012337	Abnormal homeostasis	8925	HERC1	ORPHA:457359
HP:0012337	Abnormal homeostasis	10984	KCNQ1OT1	OMIM:130650
HP:0012337	Abnormal homeostasis	3784	KCNQ1	OMIM:130650
HP:0012337	Abnormal homeostasis	10943	MSL3	OMIM:301032
HP:0012337	Abnormal homeostasis	7403	KDM6A	OMIM:300867
HP:0012337	Abnormal homeostasis	23152	CIC	OMIM:617600
HP:0012337	Abnormal homeostasis	7259	TSPYL1	ORPHA:168593
HP:0012337	Abnormal homeostasis	7259	TSPYL1	OMIM:608800
HP:0012337	Abnormal homeostasis	6335	SCN9A	ORPHA:90026
HP:0012337	Abnormal homeostasis	11280	SCN11A	ORPHA:90026
HP:0012337	Abnormal homeostasis	6336	SCN10A	ORPHA:90026
HP:0012337	Abnormal homeostasis	7849	PAX8	OMIM:218700
HP:0012337	Abnormal homeostasis	221927	BRAT1	OMIM:614498
HP:0012337	Abnormal homeostasis	93627	TBCK	ORPHA:488632
HP:0012337	Abnormal homeostasis	2555	GABRA2	OMIM:618557
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:98794
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:98795
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:411511
HP:0012337	Abnormal homeostasis	4948	OCA2	ORPHA:98794
HP:0012337	Abnormal homeostasis	9071	CLDN10	OMIM:617671
HP:0012337	Abnormal homeostasis	81607	NECTIN4	OMIM:613573
HP:0012337	Abnormal homeostasis	56983	POGLUT1	ORPHA:79145
HP:0012337	Abnormal homeostasis	3852	KRT5	ORPHA:79145
HP:0012337	Abnormal homeostasis	3852	KRT5	ORPHA:79400
HP:0012337	Abnormal homeostasis	23509	POFUT1	ORPHA:79145
HP:0012337	Abnormal homeostasis	55851	PSENEN	ORPHA:79145
HP:0012337	Abnormal homeostasis	3861	KRT14	ORPHA:79400
HP:0012337	Abnormal homeostasis	3861	KRT14	OMIM:161000
HP:0012337	Abnormal homeostasis	3861	KRT14	ORPHA:69087
HP:0012337	Abnormal homeostasis	3709	ITPR2	OMIM:106190
HP:0012337	Abnormal homeostasis	10660	LBX1	OMIM:619483
HP:0012337	Abnormal homeostasis	4792	NFKBIA	OMIM:612132
HP:0012337	Abnormal homeostasis	487	ATP2A1	OMIM:601003
HP:0012337	Abnormal homeostasis	4621	MYH3	ORPHA:2053
HP:0012337	Abnormal homeostasis	4621	MYH3	OMIM:193700
HP:0012337	Abnormal homeostasis	259232	NALCN	ORPHA:2053
HP:0012337	Abnormal homeostasis	246329	STAC3	ORPHA:168572
HP:0012337	Abnormal homeostasis	246329	STAC3	OMIM:255995
HP:0012337	Abnormal homeostasis	274	BIN1	ORPHA:169189
HP:0012337	Abnormal homeostasis	64419	MTMR14	ORPHA:169189
HP:0012337	Abnormal homeostasis	4618	MYF6	ORPHA:169189
HP:0012337	Abnormal homeostasis	1785	DNM2	ORPHA:169189
HP:0012337	Abnormal homeostasis	23529	CLCF1	ORPHA:1545
HP:0012337	Abnormal homeostasis	83696	TRAPPC9	ORPHA:352530
HP:0012337	Abnormal homeostasis	7189	TRAF6	ORPHA:1810
HP:0012337	Abnormal homeostasis	128178	EDARADD	ORPHA:1810
HP:0012337	Abnormal homeostasis	126695	KDF1	ORPHA:1810
HP:0012337	Abnormal homeostasis	10913	EDAR	ORPHA:1810
HP:0012337	Abnormal homeostasis	9131	AIFM1	ORPHA:238329
HP:0012337	Abnormal homeostasis	9131	AIFM1	OMIM:300816
HP:0012337	Abnormal homeostasis	4702	NDUFA8	OMIM:619272
HP:0012337	Abnormal homeostasis	79717	PPCS	OMIM:618189
HP:0012337	Abnormal homeostasis	26235	FBXL4	OMIM:615471
HP:0012337	Abnormal homeostasis	4570	MT-TN	OMIM:220110
HP:0012337	Abnormal homeostasis	4570	MT-TN	ORPHA:663
HP:0012337	Abnormal homeostasis	6834	SURF1	OMIM:220110
HP:0012337	Abnormal homeostasis	6834	SURF1	OMIM:616684
HP:0012337	Abnormal homeostasis	6834	SURF1	ORPHA:70474
HP:0012337	Abnormal homeostasis	6834	SURF1	ORPHA:255241
HP:0012337	Abnormal homeostasis	10059	DNM1L	OMIM:614388
HP:0012337	Abnormal homeostasis	10059	DNM1L	ORPHA:330050
HP:0012337	Abnormal homeostasis	400916	CHCHD10	OMIM:616209
HP:0012337	Abnormal homeostasis	400916	CHCHD10	ORPHA:457050
HP:0012337	Abnormal homeostasis	25821	MTO1	OMIM:614702
HP:0012337	Abnormal homeostasis	123263	MTFMT	OMIM:614947
HP:0012337	Abnormal homeostasis	123263	MTFMT	ORPHA:255241
HP:0012337	Abnormal homeostasis	10667	FARS2	OMIM:614946
HP:0012337	Abnormal homeostasis	80222	TARS2	OMIM:615918
HP:0012337	Abnormal homeostasis	4536	MT-ND2	ORPHA:255210
HP:0012337	Abnormal homeostasis	4537	MT-ND3	ORPHA:255210
HP:0012337	Abnormal homeostasis	4577	MT-TV	ORPHA:255210
HP:0012337	Abnormal homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0012337	Abnormal homeostasis	4508	MT-ATP6	ORPHA:320360
HP:0012337	Abnormal homeostasis	4566	MT-TK	ORPHA:255210
HP:0012337	Abnormal homeostasis	4566	MT-TK	OMIM:545000
HP:0012337	Abnormal homeostasis	4566	MT-TK	ORPHA:1349
HP:0012337	Abnormal homeostasis	51218	GLRX5	ORPHA:401866
HP:0012337	Abnormal homeostasis	51218	GLRX5	OMIM:616859
HP:0012337	Abnormal homeostasis	6341	SCO1	OMIM:619048
HP:0012337	Abnormal homeostasis	65993	MRPS34	OMIM:617664
HP:0012337	Abnormal homeostasis	5917	RARS1	ORPHA:438114
HP:0012337	Abnormal homeostasis	56997	COQ8A	ORPHA:139485
HP:0012337	Abnormal homeostasis	56997	COQ8A	OMIM:612016
HP:0012337	Abnormal homeostasis	1352	COX10	OMIM:619046
HP:0012337	Abnormal homeostasis	387787	LIPT2	OMIM:617668
HP:0012337	Abnormal homeostasis	1841	DTYMK	OMIM:619847
HP:0012337	Abnormal homeostasis	10730	YME1L1	OMIM:617302
HP:0012337	Abnormal homeostasis	55163	PNPO	ORPHA:79096
HP:0012337	Abnormal homeostasis	55163	PNPO	OMIM:610090
HP:0012337	Abnormal homeostasis	271	AMPD2	OMIM:615809
HP:0012337	Abnormal homeostasis	87178	PNPT1	ORPHA:319514
HP:0012337	Abnormal homeostasis	87178	PNPT1	OMIM:614932
HP:0012337	Abnormal homeostasis	1340	COX6B1	OMIM:619051
HP:0012337	Abnormal homeostasis	84987	COX14	OMIM:619053
HP:0012337	Abnormal homeostasis	4718	NDUFC2	OMIM:619170
HP:0012337	Abnormal homeostasis	1738	DLD	ORPHA:2394
HP:0012337	Abnormal homeostasis	55687	TRMU	OMIM:613070
HP:0012337	Abnormal homeostasis	1351	COX8A	OMIM:619059
HP:0012337	Abnormal homeostasis	116228	COX20	OMIM:619054
HP:0012337	Abnormal homeostasis	100131801	PET100	OMIM:619055
HP:0012337	Abnormal homeostasis	100131801	PET100	ORPHA:255241
HP:0012337	Abnormal homeostasis	1020	CDK5	OMIM:616342
HP:0012337	Abnormal homeostasis	11232	POLG2	OMIM:618528
HP:0012337	Abnormal homeostasis	11232	POLG2	OMIM:610131
HP:0012337	Abnormal homeostasis	11232	POLG2	ORPHA:254892
HP:0012337	Abnormal homeostasis	55157	DARS2	ORPHA:137898
HP:0012337	Abnormal homeostasis	1339	COX6A2	OMIM:619062
HP:0012337	Abnormal homeostasis	100303755	PET117	OMIM:619063
HP:0012337	Abnormal homeostasis	9377	COX5A	OMIM:619064
HP:0012337	Abnormal homeostasis	1327	COX4I1	OMIM:619060
HP:0012337	Abnormal homeostasis	54968	TMEM70	OMIM:614052
HP:0012337	Abnormal homeostasis	4571	MT-TP	OMIM:545000
HP:0012337	Abnormal homeostasis	4565	MT-TI	OMIM:545000
HP:0012337	Abnormal homeostasis	5442	POLRMT	OMIM:619743
HP:0012337	Abnormal homeostasis	39	ACAT2	OMIM:614055
HP:0012337	Abnormal homeostasis	790955	UQCC3	OMIM:616111
HP:0012337	Abnormal homeostasis	246243	RNASEH1	OMIM:616479
HP:0012337	Abnormal homeostasis	10352	WARS2	ORPHA:572798
HP:0012337	Abnormal homeostasis	10352	WARS2	OMIM:617710
HP:0012337	Abnormal homeostasis	84300	UQCC2	OMIM:615824
HP:0012337	Abnormal homeostasis	51021	MRPS16	OMIM:610498
HP:0012337	Abnormal homeostasis	284439	SLC25A42	OMIM:618416
HP:0012337	Abnormal homeostasis	84947	SERAC1	OMIM:614739
HP:0012337	Abnormal homeostasis	28976	ACAD9	ORPHA:99901
HP:0012337	Abnormal homeostasis	3735	KARS1	OMIM:619196
HP:0012337	Abnormal homeostasis	3735	KARS1	OMIM:619147
HP:0012337	Abnormal homeostasis	5091	PC	OMIM:266150
HP:0012337	Abnormal homeostasis	55768	NGLY1	OMIM:615273
HP:0012337	Abnormal homeostasis	65080	MRPL44	OMIM:615395
HP:0012337	Abnormal homeostasis	27089	UQCRQ	OMIM:615159
HP:0012337	Abnormal homeostasis	51660	MPC1	OMIM:614741
HP:0012337	Abnormal homeostasis	1593	CYP27A1	ORPHA:909
HP:0012337	Abnormal homeostasis	7381	UQCRB	OMIM:615158
HP:0012337	Abnormal homeostasis	92609	TIMM50	OMIM:617698
HP:0012337	Abnormal homeostasis	92609	TIMM50	ORPHA:505216
HP:0012337	Abnormal homeostasis	4191	MDH2	OMIM:617339
HP:0012337	Abnormal homeostasis	90624	LYRM7	OMIM:615838
HP:0012337	Abnormal homeostasis	5428	POLG	OMIM:203700
HP:0012337	Abnormal homeostasis	5428	POLG	OMIM:607459
HP:0012337	Abnormal homeostasis	5428	POLG	ORPHA:254892
HP:0012337	Abnormal homeostasis	5428	POLG	OMIM:157640
HP:0012337	Abnormal homeostasis	5428	POLG	ORPHA:70595
HP:0012337	Abnormal homeostasis	55210	ATAD3A	ORPHA:496790
HP:0012337	Abnormal homeostasis	55210	ATAD3A	OMIM:618810
HP:0012337	Abnormal homeostasis	55210	ATAD3A	OMIM:617183
HP:0012337	Abnormal homeostasis	7385	UQCRC2	OMIM:615160
HP:0012337	Abnormal homeostasis	25828	TXN2	ORPHA:478029
HP:0012337	Abnormal homeostasis	25828	TXN2	OMIM:616811
HP:0012337	Abnormal homeostasis	4285	MIPEP	OMIM:617228
HP:0012337	Abnormal homeostasis	56652	TWNK	OMIM:616138
HP:0012337	Abnormal homeostasis	56652	TWNK	OMIM:607459
HP:0012337	Abnormal homeostasis	56652	TWNK	ORPHA:254892
HP:0012337	Abnormal homeostasis	56652	TWNK	OMIM:609286
HP:0012337	Abnormal homeostasis	56652	TWNK	ORPHA:70595
HP:0012337	Abnormal homeostasis	10531	PITRM1	OMIM:619405
HP:0012337	Abnormal homeostasis	270	AMPD1	ORPHA:45
HP:0012337	Abnormal homeostasis	272	AMPD3	ORPHA:45
HP:0012337	Abnormal homeostasis	55739	NAXD	OMIM:618321
HP:0012337	Abnormal homeostasis	79989	IFT56	OMIM:619534
HP:0012337	Abnormal homeostasis	125988	MICOS13	OMIM:618329
HP:0012337	Abnormal homeostasis	8565	YARS1	OMIM:619418
HP:0012337	Abnormal homeostasis	1384	CRAT	OMIM:617917
HP:0012337	Abnormal homeostasis	91574	MTRFR	OMIM:613559
HP:0012337	Abnormal homeostasis	3954	LETM1	OMIM:620089
HP:0012337	Abnormal homeostasis	23479	ISCU	OMIM:255125
HP:0012337	Abnormal homeostasis	27247	NFU1	OMIM:605711
HP:0012337	Abnormal homeostasis	57505	AARS2	OMIM:614096
HP:0012337	Abnormal homeostasis	81570	CLPB	OMIM:616271
HP:0012337	Abnormal homeostasis	81570	CLPB	ORPHA:445038
HP:0012337	Abnormal homeostasis	1892	ECHS1	OMIM:616277
HP:0012337	Abnormal homeostasis	1892	ECHS1	ORPHA:255241
HP:0012337	Abnormal homeostasis	51117	COQ4	OMIM:616276
HP:0012337	Abnormal homeostasis	51067	YARS2	OMIM:613561
HP:0012337	Abnormal homeostasis	133686	NADK2	OMIM:616034
HP:0012337	Abnormal homeostasis	57017	COQ9	OMIM:614654
HP:0012337	Abnormal homeostasis	23590	PDSS1	OMIM:614651
HP:0012337	Abnormal homeostasis	27429	HTRA2	OMIM:617248
HP:0012337	Abnormal homeostasis	57107	PDSS2	OMIM:614652
HP:0012337	Abnormal homeostasis	57107	PDSS2	ORPHA:255249
HP:0012337	Abnormal homeostasis	3329	HSPD1	OMIM:612233
HP:0012337	Abnormal homeostasis	291	SLC25A4	ORPHA:254892
HP:0012337	Abnormal homeostasis	291	SLC25A4	OMIM:609283
HP:0012337	Abnormal homeostasis	291	SLC25A4	OMIM:615418
HP:0012337	Abnormal homeostasis	50484	RRM2B	ORPHA:254892
HP:0012337	Abnormal homeostasis	3155	HMGCL	ORPHA:20
HP:0012337	Abnormal homeostasis	4728	NDUFS8	OMIM:618222
HP:0012337	Abnormal homeostasis	4728	NDUFS8	ORPHA:255241
HP:0012337	Abnormal homeostasis	4723	NDUFV1	OMIM:618225
HP:0012337	Abnormal homeostasis	4723	NDUFV1	ORPHA:255241
HP:0012337	Abnormal homeostasis	763	CA5A	OMIM:615751
HP:0012337	Abnormal homeostasis	85476	GFM1	OMIM:609060
HP:0012337	Abnormal homeostasis	4719	NDUFS1	OMIM:618226
HP:0012337	Abnormal homeostasis	4719	NDUFS1	ORPHA:255241
HP:0012337	Abnormal homeostasis	4967	OGDH	OMIM:203740
HP:0012337	Abnormal homeostasis	4720	NDUFS2	OMIM:618228
HP:0012337	Abnormal homeostasis	4720	NDUFS2	ORPHA:70474
HP:0012337	Abnormal homeostasis	4720	NDUFS2	ORPHA:255241
HP:0012337	Abnormal homeostasis	5250	SLC25A3	ORPHA:91130
HP:0012337	Abnormal homeostasis	10102	TSFM	OMIM:610505
HP:0012337	Abnormal homeostasis	8050	PDHX	ORPHA:255182
HP:0012337	Abnormal homeostasis	56945	MRPS22	OMIM:611719
HP:0012337	Abnormal homeostasis	4568	MT-TL2	ORPHA:663
HP:0012337	Abnormal homeostasis	26275	HIBCH	ORPHA:88639
HP:0012337	Abnormal homeostasis	23395	LARS2	OMIM:617021
HP:0012337	Abnormal homeostasis	51103	NDUFAF1	OMIM:618234
HP:0012337	Abnormal homeostasis	6647	SOD1	OMIM:618598
HP:0012337	Abnormal homeostasis	79587	CARS2	ORPHA:477774
HP:0012337	Abnormal homeostasis	79587	CARS2	OMIM:616672
HP:0012337	Abnormal homeostasis	126328	NDUFA11	OMIM:618236
HP:0012337	Abnormal homeostasis	8867	SYNJ1	OMIM:617389
HP:0012337	Abnormal homeostasis	51601	LIPT1	OMIM:616299
HP:0012337	Abnormal homeostasis	51601	LIPT1	ORPHA:255241
HP:0012337	Abnormal homeostasis	4722	NDUFS3	OMIM:618230
HP:0012337	Abnormal homeostasis	4722	NDUFS3	ORPHA:255241
HP:0012337	Abnormal homeostasis	8492	PRSS12	OMIM:249500
HP:0012337	Abnormal homeostasis	5160	PDHA1	OMIM:312170
HP:0012337	Abnormal homeostasis	5160	PDHA1	ORPHA:79243
HP:0012337	Abnormal homeostasis	5160	PDHA1	ORPHA:255241
HP:0012337	Abnormal homeostasis	54931	TRMT10C	OMIM:616974
HP:0012337	Abnormal homeostasis	29078	NDUFAF4	OMIM:618237
HP:0012337	Abnormal homeostasis	137682	NDUFAF6	OMIM:618239
HP:0012337	Abnormal homeostasis	137682	NDUFAF6	ORPHA:255241
HP:0012337	Abnormal homeostasis	11093	ADAMTS13	OMIM:274150
HP:0012337	Abnormal homeostasis	3939	LDHA	OMIM:612933
HP:0012337	Abnormal homeostasis	4952	OCRL	ORPHA:534
HP:0012337	Abnormal homeostasis	4204	MECP2	ORPHA:778
HP:0012337	Abnormal homeostasis	90161	HS6ST2	OMIM:301025
HP:0012337	Abnormal homeostasis	4694	NDUFA1	OMIM:301020
HP:0012337	Abnormal homeostasis	55967	NDUFA12	OMIM:618244
HP:0012337	Abnormal homeostasis	55967	NDUFA12	ORPHA:255241
HP:0012337	Abnormal homeostasis	4715	NDUFB9	OMIM:618245
HP:0012337	Abnormal homeostasis	4704	NDUFA9	OMIM:618247
HP:0012337	Abnormal homeostasis	4704	NDUFA9	ORPHA:255241
HP:0012337	Abnormal homeostasis	51116	MRPS2	OMIM:617950
HP:0012337	Abnormal homeostasis	9512	PMPCB	OMIM:617954
HP:0012337	Abnormal homeostasis	51079	NDUFA13	OMIM:618249
HP:0012337	Abnormal homeostasis	51079	NDUFA13	ORPHA:255241
HP:0012337	Abnormal homeostasis	708	C1QBP	OMIM:617713
HP:0012337	Abnormal homeostasis	9361	LONP1	ORPHA:79243
HP:0012337	Abnormal homeostasis	55750	AGK	OMIM:212350
HP:0012337	Abnormal homeostasis	54704	PDP1	ORPHA:79246
HP:0012337	Abnormal homeostasis	128989	TANGO2	ORPHA:480864
HP:0012337	Abnormal homeostasis	128989	TANGO2	OMIM:616878
HP:0012337	Abnormal homeostasis	91647	ATPAF2	OMIM:604273
HP:0012337	Abnormal homeostasis	8604	SLC25A12	OMIM:612949
HP:0012337	Abnormal homeostasis	9056	SLC7A7	OMIM:222700
HP:0012337	Abnormal homeostasis	80324	PUS1	OMIM:600462
HP:0012337	Abnormal homeostasis	55863	TMEM126B	OMIM:618250
HP:0012337	Abnormal homeostasis	112812	FDX2	OMIM:251900
HP:0012337	Abnormal homeostasis	6390	SDHB	OMIM:619224
HP:0012337	Abnormal homeostasis	63931	MRPS14	OMIM:618378
HP:0012337	Abnormal homeostasis	8802	SUCLG1	ORPHA:17
HP:0012337	Abnormal homeostasis	4714	NDUFB8	OMIM:618252
HP:0012337	Abnormal homeostasis	4714	NDUFB8	ORPHA:70474
HP:0012337	Abnormal homeostasis	4700	NDUFA6	OMIM:618253
HP:0012337	Abnormal homeostasis	84705	GTPBP3	OMIM:616198
HP:0012337	Abnormal homeostasis	6773	STAT2	OMIM:616636
HP:0012337	Abnormal homeostasis	27010	TPK1	OMIM:614458
HP:0012337	Abnormal homeostasis	3028	HSD17B10	ORPHA:391428
HP:0012337	Abnormal homeostasis	9997	SCO2	OMIM:604377
HP:0012337	Abnormal homeostasis	9997	SCO2	ORPHA:70474
HP:0012337	Abnormal homeostasis	9997	SCO2	ORPHA:521411
HP:0012337	Abnormal homeostasis	11212	PLPBP	OMIM:617290
HP:0012337	Abnormal homeostasis	2998	GYS2	OMIM:240600
HP:0012337	Abnormal homeostasis	11019	LIAS	OMIM:614462
HP:0012337	Abnormal homeostasis	11222	MRPL3	OMIM:614582
HP:0012337	Abnormal homeostasis	81689	ISCA1	OMIM:617613
HP:0012337	Abnormal homeostasis	4329	ALDH6A1	OMIM:614105
HP:0012337	Abnormal homeostasis	25915	NDUFAF3	ORPHA:70474
HP:0012337	Abnormal homeostasis	128240	NAXE	OMIM:617186
HP:0012337	Abnormal homeostasis	6182	MRPL12	OMIM:618951
HP:0012337	Abnormal homeostasis	7084	TK2	OMIM:617069
HP:0012337	Abnormal homeostasis	28957	MRPS28	OMIM:618958
HP:0012337	Abnormal homeostasis	57570	TRMT5	OMIM:616539
HP:0012337	Abnormal homeostasis	5261	PHKG2	OMIM:613027
HP:0012337	Abnormal homeostasis	57038	RARS2	OMIM:611523
HP:0012337	Abnormal homeostasis	498	ATP5F1A	OMIM:620358
HP:0012337	Abnormal homeostasis	7284	TUFM	OMIM:610678
HP:0012337	Abnormal homeostasis	6389	SDHA	ORPHA:255241
HP:0012337	Abnormal homeostasis	6389	SDHA	OMIM:252011
HP:0012337	Abnormal homeostasis	80704	SLC19A3	ORPHA:255241
HP:0012337	Abnormal homeostasis	91942	NDUFAF2	ORPHA:255241
HP:0012337	Abnormal homeostasis	55572	FOXRED1	ORPHA:255241
HP:0012337	Abnormal homeostasis	4729	NDUFV2	ORPHA:255241
HP:0012337	Abnormal homeostasis	51204	TACO1	ORPHA:255241
HP:0012337	Abnormal homeostasis	4724	NDUFS4	ORPHA:255241
HP:0012337	Abnormal homeostasis	79133	NDUFAF5	ORPHA:255241
HP:0012337	Abnormal homeostasis	1355	COX15	ORPHA:255241
HP:0012337	Abnormal homeostasis	374291	NDUFS7	ORPHA:255241
HP:0012337	Abnormal homeostasis	4705	NDUFA10	ORPHA:255241
HP:0012337	Abnormal homeostasis	4695	NDUFA2	ORPHA:255241
HP:0012337	Abnormal homeostasis	4697	NDUFA4	ORPHA:255241
HP:0012337	Abnormal homeostasis	1716	DGUOK	OMIM:617070
HP:0012337	Abnormal homeostasis	27235	COQ2	ORPHA:255249
HP:0012337	Abnormal homeostasis	51081	MRPS7	OMIM:617872
HP:0012337	Abnormal homeostasis	63899	NSUN3	OMIM:619012
HP:0012337	Abnormal homeostasis	119559	SFXN4	OMIM:615578
HP:0012337	Abnormal homeostasis	131118	DNAJC19	ORPHA:66634
HP:0012337	Abnormal homeostasis	2806	GOT2	OMIM:618721
HP:0012337	Abnormal homeostasis	55005	RMND1	OMIM:614922
HP:0012337	Abnormal homeostasis	124454	EARS2	OMIM:614924
HP:0012337	Abnormal homeostasis	84842	HPDL	OMIM:619026
HP:0012337	Abnormal homeostasis	1468	SLC25A10	OMIM:618972
HP:0012337	Abnormal homeostasis	29928	TIMM22	OMIM:618851
HP:0012337	Abnormal homeostasis	51733	UPB1	OMIM:613161
HP:0012337	Abnormal homeostasis	115286	SLC25A26	OMIM:616794
HP:0012337	Abnormal homeostasis	8803	SUCLA2	OMIM:612073
HP:0012337	Abnormal homeostasis	9054	NFS1	OMIM:619386
HP:0012337	Abnormal homeostasis	22868	FASTKD2	OMIM:618855
HP:0012337	Abnormal homeostasis	7388	UQCRH	OMIM:620137
HP:0012337	Abnormal homeostasis	54938	SARS2	OMIM:613845
HP:0012337	Abnormal homeostasis	50640	PNPLA8	OMIM:251950
HP:0012337	Abnormal homeostasis	23126	POGZ	OMIM:616364
HP:0012337	Abnormal homeostasis	6611	SMS	ORPHA:3063
HP:0012337	Abnormal homeostasis	3785	KCNQ2	ORPHA:439218
HP:0012337	Abnormal homeostasis	10165	SLC25A13	ORPHA:247585
HP:0012337	Abnormal homeostasis	10165	SLC25A13	OMIM:603471
HP:0012337	Abnormal homeostasis	51692	CPSF3	OMIM:619876
HP:0012337	Abnormal homeostasis	112476	PRRT2	ORPHA:569
HP:0012337	Abnormal homeostasis	6323	SCN1A	ORPHA:569
HP:0012337	Abnormal homeostasis	3908	LAMA2	ORPHA:258
HP:0012337	Abnormal homeostasis	10551	AGR2	OMIM:620233
HP:0012337	Abnormal homeostasis	8314	BAP1	ORPHA:50251
HP:0012337	Abnormal homeostasis	11274	USP18	OMIM:617397
HP:0012337	Abnormal homeostasis	440275	EIF2AK4	ORPHA:199241
HP:0012337	Abnormal homeostasis	4552	MTRR	OMIM:236270
HP:0012337	Abnormal homeostasis	55788	LMBRD1	OMIM:277380
HP:0012337	Abnormal homeostasis	3054	HCFC1	OMIM:309541
HP:0012337	Abnormal homeostasis	51293	CD320	OMIM:613646
HP:0012337	Abnormal homeostasis	5826	ABCD4	OMIM:614857
HP:0012337	Abnormal homeostasis	4548	MTR	OMIM:250940
HP:0012337	Abnormal homeostasis	27249	MMADHC	OMIM:277410
HP:0012337	Abnormal homeostasis	5052	PRDX1	OMIM:277400
HP:0012337	Abnormal homeostasis	6927	HNF1A	OMIM:600496
HP:0012337	Abnormal homeostasis	6927	HNF1A	ORPHA:552
HP:0012337	Abnormal homeostasis	6927	HNF1A	OMIM:222100
HP:0012337	Abnormal homeostasis	3767	KCNJ11	ORPHA:552
HP:0012337	Abnormal homeostasis	3767	KCNJ11	OMIM:610582
HP:0012337	Abnormal homeostasis	3767	KCNJ11	OMIM:616329
HP:0012337	Abnormal homeostasis	3767	KCNJ11	ORPHA:79134
HP:0012337	Abnormal homeostasis	3767	KCNJ11	ORPHA:99885
HP:0012337	Abnormal homeostasis	3767	KCNJ11	ORPHA:99886
HP:0012337	Abnormal homeostasis	3767	KCNJ11	OMIM:618856
HP:0012337	Abnormal homeostasis	8462	KLF11	ORPHA:552
HP:0012337	Abnormal homeostasis	2645	GCK	ORPHA:552
HP:0012337	Abnormal homeostasis	2645	GCK	ORPHA:99885
HP:0012337	Abnormal homeostasis	2645	GCK	OMIM:606176
HP:0012337	Abnormal homeostasis	26060	APPL1	ORPHA:552
HP:0012337	Abnormal homeostasis	640	BLK	ORPHA:552
HP:0012337	Abnormal homeostasis	1056	CEL	ORPHA:552
HP:0012337	Abnormal homeostasis	1056	CEL	OMIM:609812
HP:0012337	Abnormal homeostasis	4760	NEUROD1	ORPHA:552
HP:0012337	Abnormal homeostasis	3651	PDX1	ORPHA:552
HP:0012337	Abnormal homeostasis	3651	PDX1	ORPHA:99885
HP:0012337	Abnormal homeostasis	6833	ABCC8	ORPHA:552
HP:0012337	Abnormal homeostasis	6833	ABCC8	ORPHA:79134
HP:0012337	Abnormal homeostasis	6833	ABCC8	ORPHA:99885
HP:0012337	Abnormal homeostasis	6833	ABCC8	ORPHA:99886
HP:0012337	Abnormal homeostasis	6833	ABCC8	OMIM:618857
HP:0012337	Abnormal homeostasis	5078	PAX4	ORPHA:552
HP:0012337	Abnormal homeostasis	3172	HNF4A	ORPHA:552
HP:0012337	Abnormal homeostasis	3630	INS	ORPHA:552
HP:0012337	Abnormal homeostasis	3630	INS	OMIM:613370
HP:0012337	Abnormal homeostasis	3630	INS	OMIM:616214
HP:0012337	Abnormal homeostasis	3630	INS	ORPHA:99885
HP:0012337	Abnormal homeostasis	3630	INS	OMIM:618858
HP:0012337	Abnormal homeostasis	10128	LRPPRC	OMIM:220111
HP:0012337	Abnormal homeostasis	3643	INSR	OMIM:262190
HP:0012337	Abnormal homeostasis	3643	INSR	OMIM:246200
HP:0012337	Abnormal homeostasis	10269	ZMPSTE24	OMIM:608612
HP:0012337	Abnormal homeostasis	2737	GLI3	OMIM:175700
HP:0012337	Abnormal homeostasis	222546	RFX6	OMIM:615710
HP:0012337	Abnormal homeostasis	3795	KHK	ORPHA:2056
HP:0012337	Abnormal homeostasis	79798	ARMC5	OMIM:615954
HP:0012337	Abnormal homeostasis	256297	PTF1A	OMIM:609069
HP:0012337	Abnormal homeostasis	2627	GATA6	OMIM:600001
HP:0012337	Abnormal homeostasis	57061	HYMAI	OMIM:601410
HP:0012337	Abnormal homeostasis	57061	HYMAI	ORPHA:99886
HP:0012337	Abnormal homeostasis	346171	ZFP57	OMIM:601410
HP:0012337	Abnormal homeostasis	346171	ZFP57	ORPHA:99886
HP:0012337	Abnormal homeostasis	27125	AFF4	ORPHA:444077
HP:0012337	Abnormal homeostasis	5468	PPARG	OMIM:604367
HP:0012337	Abnormal homeostasis	25970	SH2B1	ORPHA:329249
HP:0012337	Abnormal homeostasis	5167	ENPP1	OMIM:615522
HP:0012337	Abnormal homeostasis	4000	LMNA	OMIM:248370
HP:0012337	Abnormal homeostasis	4000	LMNA	OMIM:151660
HP:0012337	Abnormal homeostasis	4000	LMNA	ORPHA:79474
HP:0012337	Abnormal homeostasis	10342	TFG	OMIM:604484
HP:0012337	Abnormal homeostasis	79731	NARS2	ORPHA:79134
HP:0012337	Abnormal homeostasis	6774	STAT3	ORPHA:99885
HP:0012337	Abnormal homeostasis	617	BCS1L	OMIM:124000
HP:0012337	Abnormal homeostasis	5325	PLAGL1	ORPHA:99886
HP:0012337	Abnormal homeostasis	38	ACAT1	ORPHA:134
HP:0012337	Abnormal homeostasis	5295	PIK3R1	OMIM:269880
HP:0012337	Abnormal homeostasis	6524	SLC5A2	ORPHA:69076
HP:0012337	Abnormal homeostasis	1537	CYC1	OMIM:615453
HP:0012337	Abnormal homeostasis	9692	PRORP	OMIM:619737
HP:0012337	Abnormal homeostasis	9149	DYRK1B	OMIM:615812
HP:0012337	Abnormal homeostasis	654	BMP6	ORPHA:465508
HP:0012337	Abnormal homeostasis	3077	HFE	ORPHA:465508
HP:0012337	Abnormal homeostasis	9699	RIMS2	OMIM:618970
HP:0012337	Abnormal homeostasis	26191	PTPN22	OMIM:222100
HP:0012337	Abnormal homeostasis	3710	ITPR3	OMIM:222100
HP:0012337	Abnormal homeostasis	3569	IL6	OMIM:222100
HP:0012337	Abnormal homeostasis	27241	BBS9	OMIM:615986
HP:0012337	Abnormal homeostasis	84334	COA8	ORPHA:436271
HP:0012337	Abnormal homeostasis	57176	VARS2	OMIM:615917
HP:0012337	Abnormal homeostasis	4141	MARS1	OMIM:615486
HP:0012337	Abnormal homeostasis	6392	SDHD	OMIM:619167
HP:0012337	Abnormal homeostasis	23474	ETHE1	ORPHA:51188
HP:0012337	Abnormal homeostasis	23474	ETHE1	OMIM:602473
HP:0012337	Abnormal homeostasis	1890	TYMP	ORPHA:298
HP:0012337	Abnormal homeostasis	1890	TYMP	OMIM:603041
HP:0012337	Abnormal homeostasis	3980	LIG3	ORPHA:298
HP:0012337	Abnormal homeostasis	23203	PMPCA	ORPHA:1170
HP:0012337	Abnormal homeostasis	514	ATP5F1E	OMIM:614053
HP:0012337	Abnormal homeostasis	388962	BOLA3	OMIM:614299
HP:0012337	Abnormal homeostasis	4576	MT-TT	OMIM:551000
HP:0012337	Abnormal homeostasis	1737	DLAT	OMIM:245348
HP:0012337	Abnormal homeostasis	2671	GFER	ORPHA:330054
HP:0012337	Abnormal homeostasis	26007	TKFC	ORPHA:1369
HP:0012337	Abnormal homeostasis	26007	TKFC	OMIM:618805
HP:0012337	Abnormal homeostasis	58472	SQOR	OMIM:619221
HP:0012337	Abnormal homeostasis	51520	LARS1	OMIM:615438
HP:0012337	Abnormal homeostasis	5162	PDHB	ORPHA:255138
HP:0012337	Abnormal homeostasis	5162	PDHB	OMIM:614111
HP:0012337	Abnormal homeostasis	60528	ELAC2	OMIM:615440
HP:0012337	Abnormal homeostasis	4713	NDUFB7	OMIM:620135
HP:0012337	Abnormal homeostasis	6505	SLC1A1	OMIM:222730
HP:0012337	Abnormal homeostasis	9095	TBX19	OMIM:201400
HP:0012337	Abnormal homeostasis	79048	SECISBP2	ORPHA:171706
HP:0012337	Abnormal homeostasis	9620	CELSR1	OMIM:619319
HP:0012337	Abnormal homeostasis	1786	DNMT1	ORPHA:314404
HP:0012337	Abnormal homeostasis	1786	DNMT1	OMIM:604121
HP:0012337	Abnormal homeostasis	57165	GJC2	ORPHA:79452
HP:0012337	Abnormal homeostasis	1185	CLCN6	OMIM:619173
HP:0012337	Abnormal homeostasis	51360	MBTPS2	ORPHA:2273
HP:0012337	Abnormal homeostasis	8567	MADD	OMIM:619004
HP:0012337	Abnormal homeostasis	8929	PHOX2B	OMIM:209880
HP:0012337	Abnormal homeostasis	84818	IL17RC	ORPHA:1334
HP:0012337	Abnormal homeostasis	64581	CLEC7A	ORPHA:1334
HP:0012337	Abnormal homeostasis	23765	IL17RA	ORPHA:1334
HP:0012337	Abnormal homeostasis	10758	TRAF3IP2	ORPHA:1334
HP:0012337	Abnormal homeostasis	112744	IL17F	ORPHA:1334
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276238
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276244
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276241
HP:0012337	Abnormal homeostasis	1161	ERCC8	ORPHA:90321
HP:0012337	Abnormal homeostasis	6926	TBX3	ORPHA:3138
HP:0012337	Abnormal homeostasis	1186	CLCN7	ORPHA:667
HP:0012337	Abnormal homeostasis	29887	SNX10	ORPHA:667
HP:0012337	Abnormal homeostasis	8600	TNFSF11	ORPHA:667
HP:0012337	Abnormal homeostasis	7386	UQCRFS1	OMIM:618775
HP:0012337	Abnormal homeostasis	388015	RTL1	ORPHA:96184
HP:0012337	Abnormal homeostasis	388015	RTL1	ORPHA:254531
HP:0012337	Abnormal homeostasis	8788	DLK1	ORPHA:96184
HP:0012337	Abnormal homeostasis	8788	DLK1	ORPHA:254531
HP:0012337	Abnormal homeostasis	55384	MEG3	ORPHA:96184
HP:0012337	Abnormal homeostasis	55384	MEG3	ORPHA:254531
HP:0012337	Abnormal homeostasis	5092	PCBD1	ORPHA:1578
HP:0012337	Abnormal homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0012337	Abnormal homeostasis	65266	WNK4	OMIM:614491
HP:0012337	Abnormal homeostasis	26249	KLHL3	OMIM:614495
HP:0012337	Abnormal homeostasis	5053	PAH	OMIM:261600
HP:0012337	Abnormal homeostasis	283446	MYO1H	OMIM:619482
HP:0012337	Abnormal homeostasis	440138	ALG11	ORPHA:280071
HP:0012337	Abnormal homeostasis	440138	ALG11	OMIM:613661
HP:0012337	Abnormal homeostasis	6571	SLC18A2	OMIM:618049
HP:0012337	Abnormal homeostasis	55823	VPS11	OMIM:616683
HP:0012337	Abnormal homeostasis	2260	FGFR1	ORPHA:220386
HP:0012337	Abnormal homeostasis	2260	FGFR1	ORPHA:93924
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:220386
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93926
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93924
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93925
HP:0012337	Abnormal homeostasis	10735	STAG2	ORPHA:220386
HP:0012337	Abnormal homeostasis	10735	STAG2	ORPHA:93925
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:220386
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93926
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93924
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93925
HP:0012337	Abnormal homeostasis	8243	SMC1A	ORPHA:220386
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:220386
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93926
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93924
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93925
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:220386
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93926
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93924
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93925
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:220386
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93926
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93924
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93925
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:220386
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93926
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93924
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93925
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:220386
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93926
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93924
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93925
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:220386
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93926
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93924
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93925
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:220386
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93926
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93924
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93925
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:220386
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93926
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93924
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93925
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:220386
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93926
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93924
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:220386
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93926
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93924
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	54551	MAGEL2	ORPHA:398069
HP:0012337	Abnormal homeostasis	54551	MAGEL2	OMIM:176270
HP:0012337	Abnormal homeostasis	55164	SHQ1	OMIM:619922
HP:0012337	Abnormal homeostasis	23007	PLCH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	1644	DDC	OMIM:608643
HP:0012337	Abnormal homeostasis	8398	PLA2G6	ORPHA:35069
HP:0012337	Abnormal homeostasis	4001	LMNB1	ORPHA:99027
HP:0012337	Abnormal homeostasis	7681	MKRN3	OMIM:176270
HP:0012337	Abnormal homeostasis	3653	IPW	OMIM:176270
HP:0012337	Abnormal homeostasis	791114	PWRN1	OMIM:176270
HP:0012337	Abnormal homeostasis	100033413	SNORD116-1	OMIM:176270
HP:0012337	Abnormal homeostasis	8924	HERC2	OMIM:176270
HP:0012337	Abnormal homeostasis	145624	PWAR1	OMIM:176270
HP:0012337	Abnormal homeostasis	23742	NPAP1	OMIM:176270
HP:0012337	Abnormal homeostasis	338433	SNORD115-1	OMIM:176270
HP:0012337	Abnormal homeostasis	6697	SPR	ORPHA:70594
HP:0012337	Abnormal homeostasis	3675	ITGA3	OMIM:614748
HP:0012337	Abnormal homeostasis	5019	OXCT1	OMIM:245050
HP:0012337	Abnormal homeostasis	6473	SHOX	ORPHA:314795
HP:0012337	Abnormal homeostasis	27130	INVS	OMIM:602088
HP:0012337	Abnormal homeostasis	6094	ROM1	ORPHA:791
HP:0012337	Abnormal homeostasis	7401	CLRN1	ORPHA:791
HP:0012337	Abnormal homeostasis	24	ABCA4	ORPHA:791
HP:0012337	Abnormal homeostasis	130557	ZNF513	ORPHA:791
HP:0012337	Abnormal homeostasis	92211	CDHR1	ORPHA:791
HP:0012337	Abnormal homeostasis	23568	ARL2BP	ORPHA:791
HP:0012337	Abnormal homeostasis	6121	RPE65	ORPHA:791
HP:0012337	Abnormal homeostasis	54806	AHI1	ORPHA:791
HP:0012337	Abnormal homeostasis	6101	RP1	ORPHA:791
HP:0012337	Abnormal homeostasis	4751	NEK2	ORPHA:791
HP:0012337	Abnormal homeostasis	346007	EYS	ORPHA:791
HP:0012337	Abnormal homeostasis	8100	IFT88	ORPHA:791
HP:0012337	Abnormal homeostasis	23020	SNRNP200	ORPHA:791
HP:0012337	Abnormal homeostasis	762	CA4	ORPHA:791
HP:0012337	Abnormal homeostasis	138050	HGSNAT	ORPHA:791
HP:0012337	Abnormal homeostasis	196	AHR	ORPHA:791
HP:0012337	Abnormal homeostasis	3614	IMPDH1	ORPHA:791
HP:0012337	Abnormal homeostasis	123016	TTC8	ORPHA:791
HP:0012337	Abnormal homeostasis	6103	RPGR	ORPHA:791
HP:0012337	Abnormal homeostasis	1406	CRX	ORPHA:791
HP:0012337	Abnormal homeostasis	583	BBS2	ORPHA:791
HP:0012337	Abnormal homeostasis	4117	MAK	ORPHA:791
HP:0012337	Abnormal homeostasis	25794	FSCN2	ORPHA:791
HP:0012337	Abnormal homeostasis	375298	CERKL	ORPHA:791
HP:0012337	Abnormal homeostasis	3420	IDH3B	ORPHA:791
HP:0012337	Abnormal homeostasis	7275	TUB	ORPHA:791
HP:0012337	Abnormal homeostasis	24148	PRPF6	ORPHA:791
HP:0012337	Abnormal homeostasis	23418	CRB1	ORPHA:791
HP:0012337	Abnormal homeostasis	10461	MERTK	ORPHA:791
HP:0012337	Abnormal homeostasis	57709	SLC7A14	ORPHA:791
HP:0012337	Abnormal homeostasis	768206	PRCD	ORPHA:791
HP:0012337	Abnormal homeostasis	7399	USH2A	ORPHA:791
HP:0012337	Abnormal homeostasis	5949	RBP3	ORPHA:791
HP:0012337	Abnormal homeostasis	9227	LRAT	ORPHA:791
HP:0012337	Abnormal homeostasis	84140	FAM161A	ORPHA:791
HP:0012337	Abnormal homeostasis	55812	SPATA7	ORPHA:791
HP:0012337	Abnormal homeostasis	5145	PDE6A	ORPHA:791
HP:0012337	Abnormal homeostasis	10210	TOPORS	ORPHA:791
HP:0012337	Abnormal homeostasis	8842	PROM1	ORPHA:791
HP:0012337	Abnormal homeostasis	9128	PRPF4	ORPHA:791
HP:0012337	Abnormal homeostasis	145226	RDH12	ORPHA:791
HP:0012337	Abnormal homeostasis	50939	IMPG2	ORPHA:791
HP:0012337	Abnormal homeostasis	8481	OFD1	ORPHA:791
HP:0012337	Abnormal homeostasis	49855	SCAPER	ORPHA:791
HP:0012337	Abnormal homeostasis	2979	GUCA1B	ORPHA:791
HP:0012337	Abnormal homeostasis	1259	CNGA1	ORPHA:791
HP:0012337	Abnormal homeostasis	1258	CNGB1	ORPHA:791
HP:0012337	Abnormal homeostasis	60509	AGBL5	ORPHA:791
HP:0012337	Abnormal homeostasis	388939	PCARE	ORPHA:791
HP:0012337	Abnormal homeostasis	7439	BEST1	ORPHA:791
HP:0012337	Abnormal homeostasis	9785	DHX38	ORPHA:791
HP:0012337	Abnormal homeostasis	7287	TULP1	ORPHA:791
HP:0012337	Abnormal homeostasis	5995	RGR	ORPHA:791
HP:0012337	Abnormal homeostasis	9129	PRPF3	ORPHA:791
HP:0012337	Abnormal homeostasis	3617	IMPG1	ORPHA:791
HP:0012337	Abnormal homeostasis	5158	PDE6B	ORPHA:791
HP:0012337	Abnormal homeostasis	6102	RP2	ORPHA:791
HP:0012337	Abnormal homeostasis	55857	KIZ	ORPHA:791
HP:0012337	Abnormal homeostasis	64218	SEMA4A	ORPHA:791
HP:0012337	Abnormal homeostasis	157657	CFAP418	ORPHA:791
HP:0012337	Abnormal homeostasis	6295	SAG	ORPHA:791
HP:0012337	Abnormal homeostasis	63036	CELA2A	OMIM:618620
HP:0012337	Abnormal homeostasis	4160	MC4R	ORPHA:71529
HP:0012337	Abnormal homeostasis	10908	PNPLA6	ORPHA:2377
HP:0012337	Abnormal homeostasis	7068	THRB	OMIM:274300
HP:0012337	Abnormal homeostasis	1363	CPE	OMIM:619326
HP:0012337	Abnormal homeostasis	23600	AMACR	ORPHA:79095
HP:0012337	Abnormal homeostasis	5422	POLA1	ORPHA:163976
HP:0012337	Abnormal homeostasis	2642	GCGR	OMIM:619290
HP:0012337	Abnormal homeostasis	2200	FBN1	ORPHA:2833
HP:0012337	Abnormal homeostasis	4340	MOG	OMIM:614250
HP:0012337	Abnormal homeostasis	833	CARS1	OMIM:618891
HP:0012337	Abnormal homeostasis	64788	LMF1	OMIM:246650
HP:0012337	Abnormal homeostasis	5333	PLCD1	ORPHA:2387
HP:0012337	Abnormal homeostasis	5116	PCNT	OMIM:210720
HP:0012337	Abnormal homeostasis	25942	SIN3A	OMIM:613406
HP:0012337	Abnormal homeostasis	5192	PEX10	ORPHA:247815
HP:0012337	Abnormal homeostasis	686	BTD	OMIM:253260
HP:0012337	Abnormal homeostasis	686	BTD	ORPHA:79241
HP:0012337	Abnormal homeostasis	4638	MYLK	OMIM:249210
HP:0012337	Abnormal homeostasis	285489	DOK7	OMIM:618389
HP:0012337	Abnormal homeostasis	9722	NOS1AP	OMIM:619155
HP:0012337	Abnormal homeostasis	54916	TMEM260	OMIM:617478
HP:0012337	Abnormal homeostasis	7841	MOGS	OMIM:606056
HP:0012337	Abnormal homeostasis	7841	MOGS	ORPHA:79330
HP:0012337	Abnormal homeostasis	2492	FSHR	ORPHA:64739
HP:0012337	Abnormal homeostasis	5551	PRF1	OMIM:603553
HP:0012337	Abnormal homeostasis	197131	UBR1	OMIM:243800
HP:0012337	Abnormal homeostasis	1604	CD55	OMIM:226300
HP:0012337	Abnormal homeostasis	10203	CALCRL	OMIM:618773
HP:0012337	Abnormal homeostasis	3075	CFH	ORPHA:244242
HP:0012337	Abnormal homeostasis	3426	CFI	ORPHA:244242
HP:0012337	Abnormal homeostasis	4179	CD46	ORPHA:244242
HP:0012337	Abnormal homeostasis	101101692	HELLPAR	ORPHA:244242
HP:0012337	Abnormal homeostasis	26227	PHGDH	OMIM:256520
HP:0012337	Abnormal homeostasis	2324	FLT4	OMIM:153100
HP:0012337	Abnormal homeostasis	11342	RNF13	ORPHA:544503
HP:0012337	Abnormal homeostasis	9939	RBM8A	OMIM:274000
HP:0012337	Abnormal homeostasis	58	ACTA1	ORPHA:171430
HP:0012337	Abnormal homeostasis	4703	NEB	ORPHA:171430
HP:0012337	Abnormal homeostasis	131377	KLHL40	ORPHA:171430
HP:0012337	Abnormal homeostasis	10324	KLHL41	ORPHA:171430
HP:0012337	Abnormal homeostasis	56203	LMOD3	ORPHA:171430
HP:0012337	Abnormal homeostasis	5651	TMPRSS15	OMIM:226200
HP:0012337	Abnormal homeostasis	367	AR	ORPHA:90797
HP:0012337	Abnormal homeostasis	7555	CNBP	OMIM:602668
HP:0012337	Abnormal homeostasis	3033	HADH	ORPHA:71212
HP:0012337	Abnormal homeostasis	60676	PAPPA2	OMIM:619489
HP:0012337	Abnormal homeostasis	2625	GATA3	OMIM:146255
HP:0012337	Abnormal homeostasis	10686	CLDN16	OMIM:248250
HP:0012337	Abnormal homeostasis	51684	SUFU	ORPHA:280200
HP:0012337	Abnormal homeostasis	81839	VANGL1	ORPHA:3027
HP:0012337	Abnormal homeostasis	80199	FUZ	ORPHA:3027
HP:0012337	Abnormal homeostasis	6657	SOX2	ORPHA:3157
HP:0012337	Abnormal homeostasis	9915	ARNT2	ORPHA:3157
HP:0012337	Abnormal homeostasis	199857	ALG14	OMIM:619036
HP:0012337	Abnormal homeostasis	2050	EPHB4	OMIM:617300
HP:0012337	Abnormal homeostasis	2050	EPHB4	ORPHA:137667
HP:0012337	Abnormal homeostasis	2303	FOXC2	OMIM:153400
HP:0012337	Abnormal homeostasis	9780	PIEZO1	OMIM:616843
HP:0012337	Abnormal homeostasis	867	CBL	OMIM:613563
HP:0012337	Abnormal homeostasis	3832	KIF11	ORPHA:2526
HP:0012337	Abnormal homeostasis	9508	ADAMTS3	ORPHA:2136
HP:0012337	Abnormal homeostasis	147372	CCBE1	ORPHA:2136
HP:0012337	Abnormal homeostasis	79633	FAT4	ORPHA:2136
HP:0012337	Abnormal homeostasis	5921	RASA1	ORPHA:137667
HP:0012337	Abnormal homeostasis	7248	TSC1	ORPHA:538
HP:0012337	Abnormal homeostasis	7249	TSC2	ORPHA:538
HP:0012337	Abnormal homeostasis	56244	BTNL2	ORPHA:797
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:797
HP:0012337	Abnormal homeostasis	5604	MAP2K1	OMIM:163950
HP:0012337	Abnormal homeostasis	5781	PTPN11	OMIM:163950
HP:0012337	Abnormal homeostasis	57057	TBX20	ORPHA:99103
HP:0012337	Abnormal homeostasis	4624	MYH6	ORPHA:99103
HP:0012337	Abnormal homeostasis	1482	NKX2-5	ORPHA:99103
HP:0012337	Abnormal homeostasis	70	ACTC1	ORPHA:99103
HP:0012337	Abnormal homeostasis	10370	CITED2	ORPHA:99103
HP:0012337	Abnormal homeostasis	2626	GATA4	ORPHA:99103
HP:0012337	Abnormal homeostasis	2335	FN1	ORPHA:84090
HP:0012337	Abnormal homeostasis	29072	SETD2	ORPHA:821
HP:0012337	Abnormal homeostasis	10297	APC2	ORPHA:821
HP:0012337	Abnormal homeostasis	9158	FIBP	OMIM:617107
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:98754
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:177904
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:177901
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:98754
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:177904
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:177901
HP:0012337	Abnormal homeostasis	1009	CDH11	ORPHA:1299
HP:0012337	Abnormal homeostasis	9509	ADAMTS2	OMIM:225410
HP:0012337	Abnormal homeostasis	23476	BRD4	ORPHA:199
HP:0012337	Abnormal homeostasis	9126	SMC3	ORPHA:199
HP:0012337	Abnormal homeostasis	25836	NIPBL	ORPHA:199
HP:0012337	Abnormal homeostasis	55869	HDAC8	ORPHA:199
HP:0012337	Abnormal homeostasis	5885	RAD21	ORPHA:199
HP:0012337	Abnormal homeostasis	699	BUB1	OMIM:620183
HP:0012337	Abnormal homeostasis	699	BUB1	ORPHA:1052
HP:0012337	Abnormal homeostasis	1725	DHPS	OMIM:618480
HP:0012337	Abnormal homeostasis	104	ADARB1	OMIM:618862
HP:0012337	Abnormal homeostasis	29895	MYL11	OMIM:619110
HP:0012337	Abnormal homeostasis	10274	STAG1	OMIM:617635
HP:0012337	Abnormal homeostasis	2261	FGFR3	ORPHA:1860
HP:0012337	Abnormal homeostasis	2261	FGFR3	ORPHA:93274
HP:0012337	Abnormal homeostasis	79770	TXNDC15	OMIM:619879
HP:0012337	Abnormal homeostasis	415	ARSL	ORPHA:79345
HP:0012337	Abnormal homeostasis	83475	DOHH	OMIM:620066
HP:0012337	Abnormal homeostasis	23556	PIGN	ORPHA:280633
HP:0012337	Abnormal homeostasis	9184	BUB3	ORPHA:1052
HP:0012337	Abnormal homeostasis	9702	CEP57	ORPHA:1052
HP:0012337	Abnormal homeostasis	701	BUB1B	ORPHA:1052
HP:0012337	Abnormal homeostasis	1822	ATN1	OMIM:618494
HP:0012337	Abnormal homeostasis	55790	CSGALNACT1	OMIM:618870
HP:0012337	Abnormal homeostasis	10082	GPC6	ORPHA:93329
HP:0012337	Abnormal homeostasis	1717	DHCR7	ORPHA:818
HP:0012337	Abnormal homeostasis	168667	BMPER	OMIM:608022
HP:0012337	Abnormal homeostasis	6775	STAT4	ORPHA:85408
HP:0012337	Abnormal homeostasis	3560	IL2RB	ORPHA:85408
HP:0012337	Abnormal homeostasis	79722	ANKRD55	ORPHA:85408
HP:0012337	Abnormal homeostasis	919	CD247	ORPHA:85408
HP:0012337	Abnormal homeostasis	5771	PTPN2	ORPHA:85408
HP:0012337	Abnormal homeostasis	811	CALR	ORPHA:824
HP:0012337	Abnormal homeostasis	4352	MPL	ORPHA:824
HP:0012337	Abnormal homeostasis	3717	JAK2	ORPHA:824
HP:0012337	Abnormal homeostasis	54790	TET2	ORPHA:824
HP:0012337	Abnormal homeostasis	3105	HLA-A	ORPHA:179
HP:0012337	Abnormal homeostasis	403	ARL3	OMIM:618173
HP:0012337	Abnormal homeostasis	5961	PRPH2	ORPHA:52427
HP:0012337	Abnormal homeostasis	6017	RLBP1	ORPHA:52427
HP:0012337	Abnormal homeostasis	6010	RHO	ORPHA:52427
HP:0012337	Abnormal homeostasis	5959	RDH5	ORPHA:52427
HP:0012337	Abnormal homeostasis	10594	PRPF8	OMIM:600059
HP:0012337	Abnormal homeostasis	23370	ARHGEF18	OMIM:617433
HP:0012337	Abnormal homeostasis	83552	MFRP	OMIM:611040
HP:0012337	Abnormal homeostasis	55624	POMGNT1	OMIM:617123
HP:0012337	Abnormal homeostasis	5148	PDE6G	OMIM:613582
HP:0012337	Abnormal homeostasis	92840	REEP6	OMIM:617304
HP:0012337	Abnormal homeostasis	94137	RP1L1	OMIM:618826
HP:0012337	Abnormal homeostasis	285440	CYP4V2	ORPHA:41751
HP:0012337	Abnormal homeostasis	79947	DHDDS	OMIM:613861
HP:0012337	Abnormal homeostasis	3419	IDH3A	OMIM:619007
HP:0012337	Abnormal homeostasis	57670	KIAA1549	OMIM:618613
HP:0012337	Abnormal homeostasis	5836	PYGL	ORPHA:369
HP:0012337	Abnormal homeostasis	6329	SCN4A	ORPHA:681
HP:0012337	Abnormal homeostasis	779	CACNA1S	ORPHA:681
HP:0012337	Abnormal homeostasis	779	CACNA1S	ORPHA:79102
HP:0012337	Abnormal homeostasis	10008	KCNE3	ORPHA:681
HP:0012337	Abnormal homeostasis	23729	SHPK	ORPHA:440713
HP:0012337	Abnormal homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0012337	Abnormal homeostasis	2556	GABRA3	ORPHA:79102
HP:0012337	Abnormal homeostasis	83959	SLC4A11	ORPHA:293603
HP:0012337	Abnormal homeostasis	6935	ZEB1	OMIM:613270
HP:0012337	Abnormal homeostasis	6935	ZEB1	ORPHA:98973
HP:0012337	Abnormal homeostasis	5159	PDGFRB	OMIM:601812
HP:0012337	Abnormal homeostasis	7010	TEK	OMIM:617272
HP:0012337	Abnormal homeostasis	1296	COL8A2	OMIM:136800
HP:0012337	Abnormal homeostasis	1296	COL8A2	ORPHA:98973
HP:0012337	Abnormal homeostasis	30813	VSX1	ORPHA:98973
HP:0012337	Abnormal homeostasis	58495	OVOL2	ORPHA:98973
HP:0012337	Abnormal homeostasis	79977	GRHL2	ORPHA:98973
HP:0012337	Abnormal homeostasis	83483	PLVAP	OMIM:618183
HP:0012337	Abnormal homeostasis	1798	DPAGT1	ORPHA:86309
HP:0012337	Abnormal homeostasis	51422	PRKAG2	OMIM:261740
HP:0012337	Abnormal homeostasis	50619	DEF6	OMIM:619573
HP:0012337	Abnormal homeostasis	950	SCARB2	OMIM:254900
HP:0012337	Abnormal homeostasis	2746	GLUD1	ORPHA:35878
HP:0012337	Abnormal homeostasis	7351	UCP2	ORPHA:276556
HP:0012337	Abnormal homeostasis	5122	PCSK1	OMIM:600955
HP:0012337	Abnormal homeostasis	4221	MEN1	ORPHA:97279
HP:0012337	Abnormal homeostasis	7528	YY1	ORPHA:97279
HP:0012337	Abnormal homeostasis	229	ALDOB	ORPHA:469
HP:0012337	Abnormal homeostasis	2517	FUCA1	OMIM:230000
HP:0012337	Abnormal homeostasis	2947	GSTM3	ORPHA:586
HP:0012337	Abnormal homeostasis	2729	GCLC	ORPHA:586
HP:0012337	Abnormal homeostasis	1084	CEACAM3	ORPHA:586
HP:0012337	Abnormal homeostasis	51164	DCTN4	ORPHA:586
HP:0012337	Abnormal homeostasis	1909	EDNRA	ORPHA:586
HP:0012337	Abnormal homeostasis	6550	SLC9A3	ORPHA:586
HP:0012337	Abnormal homeostasis	3162	HMOX1	ORPHA:586
HP:0012337	Abnormal homeostasis	115019	SLC26A9	ORPHA:586
HP:0012337	Abnormal homeostasis	11254	SLC6A14	ORPHA:586
HP:0012337	Abnormal homeostasis	5265	SERPINA1	ORPHA:586
HP:0012337	Abnormal homeostasis	22802	CLCA4	ORPHA:586
HP:0012337	Abnormal homeostasis	4680	CEACAM6	ORPHA:586
HP:0012337	Abnormal homeostasis	5406	PNLIP	OMIM:614338
HP:0012337	Abnormal homeostasis	771	CA12	OMIM:143860
HP:0012337	Abnormal homeostasis	6492	SIM1	ORPHA:369873
HP:0012337	Abnormal homeostasis	154	ADRB2	OMIM:601665
HP:0012337	Abnormal homeostasis	155	ADRB3	OMIM:601665
HP:0012337	Abnormal homeostasis	7352	UCP3	OMIM:601665
HP:0012337	Abnormal homeostasis	8431	NR0B2	OMIM:601665
HP:0012337	Abnormal homeostasis	9607	CARTPT	OMIM:601665
HP:0012337	Abnormal homeostasis	5443	POMC	OMIM:601665
HP:0012337	Abnormal homeostasis	51738	GHRL	OMIM:601665
HP:0012337	Abnormal homeostasis	9672	SDC3	OMIM:601665
HP:0012337	Abnormal homeostasis	181	AGRP	OMIM:601665
HP:0012337	Abnormal homeostasis	84665	MYPN	ORPHA:75249
HP:0012337	Abnormal homeostasis	2318	FLNC	ORPHA:75249
HP:0012337	Abnormal homeostasis	7139	TNNT2	ORPHA:75249
HP:0012337	Abnormal homeostasis	7137	TNNI3	ORPHA:75249
HP:0012337	Abnormal homeostasis	7092	TLL1	ORPHA:99106
HP:0012337	Abnormal homeostasis	6514	SLC2A2	OMIM:227810
HP:0012337	Abnormal homeostasis	10195	ALG3	OMIM:601110
HP:0012337	Abnormal homeostasis	10847	SRCAP	ORPHA:2044
HP:0012337	Abnormal homeostasis	7994	KAT6A	OMIM:616268
HP:0012337	Abnormal homeostasis	22907	DHX30	OMIM:617804
HP:0012337	Abnormal homeostasis	116931	MED12L	OMIM:618872
HP:0012337	Abnormal homeostasis	56246	MRAP	ORPHA:361
HP:0012337	Abnormal homeostasis	6770	STAR	ORPHA:361
HP:0012337	Abnormal homeostasis	4158	MC2R	ORPHA:361
HP:0012337	Abnormal homeostasis	23530	NNT	ORPHA:361
HP:0012337	Abnormal homeostasis	10587	TXNRD2	ORPHA:361
HP:0012337	Abnormal homeostasis	5257	PHKB	ORPHA:79240
HP:0012337	Abnormal homeostasis	6566	SLC16A1	OMIM:616095
HP:0012337	Abnormal homeostasis	27034	ACAD8	ORPHA:79159
HP:0012337	Abnormal homeostasis	35	ACADS	ORPHA:26792
HP:0012337	Abnormal homeostasis	57511	COG6	OMIM:614576
HP:0012337	Abnormal homeostasis	368	ABCC6	OMIM:177850
HP:0012337	Abnormal homeostasis	3815	KIT	ORPHA:79455
HP:0012337	Abnormal homeostasis	4524	MTHFR	ORPHA:563612
HP:0012337	Abnormal homeostasis	4524	MTHFR	ORPHA:563609
HP:0012337	Abnormal homeostasis	57216	VANGL2	ORPHA:563612
HP:0012337	Abnormal homeostasis	57216	VANGL2	ORPHA:563609
HP:0012337	Abnormal homeostasis	513	ATP5F1D	OMIM:618120
HP:0012337	Abnormal homeostasis	166785	MMAA	OMIM:251100
HP:0012337	Abnormal homeostasis	51095	TRNT1	OMIM:616084
HP:0012337	Abnormal homeostasis	200205	IBA57	OMIM:615330
HP:0012337	Abnormal homeostasis	3570	IL6R	OMIM:618944
HP:0012337	Abnormal homeostasis	7428	VHL	ORPHA:892
HP:0012337	Abnormal homeostasis	10002	NR2E3	OMIM:268100
HP:0012337	Abnormal homeostasis	26121	PRPF31	OMIM:600138
HP:0012337	Abnormal homeostasis	4693	NDP	ORPHA:891
HP:0012337	Abnormal homeostasis	1499	CTNNB1	ORPHA:891
HP:0012337	Abnormal homeostasis	23554	TSPAN12	ORPHA:891
HP:0012337	Abnormal homeostasis	4041	LRP5	ORPHA:891
HP:0012337	Abnormal homeostasis	79797	ZNF408	ORPHA:891
HP:0012337	Abnormal homeostasis	8322	FZD4	ORPHA:891
HP:0012337	Abnormal homeostasis	4901	NRL	OMIM:613750
HP:0012337	Abnormal homeostasis	6100	RP9	OMIM:180104
HP:0012337	Abnormal homeostasis	2984	GUCY2C	OMIM:614665
HP:0012337	Abnormal homeostasis	152110	NEK10	OMIM:618781
HP:0012337	Abnormal homeostasis	197322	ACSF3	ORPHA:289504
HP:0012337	Abnormal homeostasis	3418	IDH2	OMIM:613657
HP:0012337	Abnormal homeostasis	79944	L2HGDH	OMIM:236792
HP:0012337	Abnormal homeostasis	84196	USP48	ORPHA:96253
HP:0012337	Abnormal homeostasis	7157	TP53	ORPHA:96253
HP:0012337	Abnormal homeostasis	9101	USP8	ORPHA:96253
HP:0012337	Abnormal homeostasis	9101	USP8	OMIM:219090
HP:0012337	Abnormal homeostasis	64072	CDH23	ORPHA:96253
HP:0012337	Abnormal homeostasis	2908	NR3C1	ORPHA:96253
HP:0012337	Abnormal homeostasis	673	BRAF	ORPHA:96253
HP:0012337	Abnormal homeostasis	546	ATRX	ORPHA:96253
HP:0012337	Abnormal homeostasis	286053	NSMCE2	OMIM:617253
HP:0012337	Abnormal homeostasis	6928	HNF1B	OMIM:137920
HP:0012337	Abnormal homeostasis	7466	WFS1	OMIM:614296
HP:0012337	Abnormal homeostasis	2099	ESR1	OMIM:615363
HP:0012337	Abnormal homeostasis	26160	IFT172	OMIM:615630
HP:0012337	Abnormal homeostasis	389692	MAFA	OMIM:147630
HP:0012337	Abnormal homeostasis	9049	AIP	OMIM:219090
HP:0012337	Abnormal homeostasis	5696	PSMB8	OMIM:256040
HP:0012337	Abnormal homeostasis	30061	SLC40A1	OMIM:606069
HP:0012337	Abnormal homeostasis	4040	LRP6	OMIM:610947
HP:0012337	Abnormal homeostasis	51371	POMP	OMIM:618048
HP:0012337	Abnormal homeostasis	5692	PSMB4	OMIM:617591
HP:0012337	Abnormal homeostasis	5698	PSMB9	OMIM:617591
HP:0012337	Abnormal homeostasis	8425	LTBP4	OMIM:613177
HP:0012337	Abnormal homeostasis	7132	TNFRSF1A	OMIM:142680
HP:0012337	Abnormal homeostasis	7132	TNFRSF1A	ORPHA:32960
HP:0012337	Abnormal homeostasis	6804	STX1A	ORPHA:904
HP:0012337	Abnormal homeostasis	7461	CLIP2	ORPHA:904
HP:0012337	Abnormal homeostasis	84277	DNAJC30	ORPHA:904
HP:0012337	Abnormal homeostasis	8468	FKBP6	ORPHA:904
HP:0012337	Abnormal homeostasis	5982	RFC2	ORPHA:904
HP:0012337	Abnormal homeostasis	2969	GTF2I	ORPHA:904
HP:0012337	Abnormal homeostasis	3984	LIMK1	ORPHA:904
HP:0012337	Abnormal homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0012337	Abnormal homeostasis	155382	VPS37D	ORPHA:904
HP:0012337	Abnormal homeostasis	155368	METTL27	ORPHA:904
HP:0012337	Abnormal homeostasis	114049	BUD23	ORPHA:904
HP:0012337	Abnormal homeostasis	7458	EIF4H	ORPHA:904
HP:0012337	Abnormal homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0012337	Abnormal homeostasis	9275	BCL7B	ORPHA:904
HP:0012337	Abnormal homeostasis	26608	TBL2	ORPHA:904
HP:0012337	Abnormal homeostasis	653361	NCF1	ORPHA:904
HP:0012337	Abnormal homeostasis	135886	TMEM270	ORPHA:904
HP:0012337	Abnormal homeostasis	51085	MLXIPL	ORPHA:904
HP:0012337	Abnormal homeostasis	9031	BAZ1B	ORPHA:904
HP:0012337	Abnormal homeostasis	2006	ELN	ORPHA:904
HP:0012337	Abnormal homeostasis	1493	CTLA4	ORPHA:900
HP:0012337	Abnormal homeostasis	3115	HLA-DPB1	ORPHA:900
HP:0012337	Abnormal homeostasis	5657	PRTN3	ORPHA:900
HP:0012337	Abnormal homeostasis	3113	HLA-DPA1	ORPHA:900
HP:0012337	Abnormal homeostasis	710	SERPING1	OMIM:106100
HP:0012337	Abnormal homeostasis	285362	SUMF1	OMIM:272200
HP:0012337	Abnormal homeostasis	4615	MYD88	ORPHA:33226
HP:0012337	Abnormal homeostasis	3321	IGSF3	OMIM:149700
HP:0012337	Abnormal homeostasis	4868	NPHS1	ORPHA:656
HP:0012337	Abnormal homeostasis	23607	CD2AP	ORPHA:656
HP:0012337	Abnormal homeostasis	9688	NUP93	ORPHA:656
HP:0012337	Abnormal homeostasis	4643	MYO1E	ORPHA:656
HP:0012337	Abnormal homeostasis	64423	INF2	ORPHA:656
HP:0012337	Abnormal homeostasis	26130	GAPVD1	ORPHA:656
HP:0012337	Abnormal homeostasis	7490	WT1	ORPHA:656
HP:0012337	Abnormal homeostasis	57122	NUP107	ORPHA:656
HP:0012337	Abnormal homeostasis	51479	ANKFY1	ORPHA:656
HP:0012337	Abnormal homeostasis	54443	ANLN	ORPHA:656
HP:0012337	Abnormal homeostasis	5800	PTPRO	ORPHA:656
HP:0012337	Abnormal homeostasis	286204	CRB2	ORPHA:656
HP:0012337	Abnormal homeostasis	23165	NUP205	ORPHA:656
HP:0012337	Abnormal homeostasis	2013	EMP2	ORPHA:656
HP:0012337	Abnormal homeostasis	79023	NUP37	ORPHA:656
HP:0012337	Abnormal homeostasis	51196	PLCE1	ORPHA:656
HP:0012337	Abnormal homeostasis	79902	NUP85	ORPHA:656
HP:0012337	Abnormal homeostasis	1285	COL4A3	ORPHA:656
HP:0012337	Abnormal homeostasis	396	ARHGDIA	ORPHA:656
HP:0012337	Abnormal homeostasis	79934	COQ8B	ORPHA:656
HP:0012337	Abnormal homeostasis	23279	NUP160	ORPHA:656
HP:0012337	Abnormal homeostasis	9863	MAGI2	ORPHA:656
HP:0012337	Abnormal homeostasis	81	ACTN4	ORPHA:656
HP:0012337	Abnormal homeostasis	7225	TRPC6	ORPHA:656
HP:0012337	Abnormal homeostasis	8542	APOL1	ORPHA:656
HP:0012337	Abnormal homeostasis	54885	TBC1D8B	ORPHA:656
HP:0012337	Abnormal homeostasis	7827	NPHS2	ORPHA:656
HP:0012337	Abnormal homeostasis	83478	ARHGAP24	ORPHA:656
HP:0012337	Abnormal homeostasis	23500	DAAM2	ORPHA:656
HP:0012337	Abnormal homeostasis	5076	PAX2	ORPHA:656
HP:0012337	Abnormal homeostasis	55746	NUP133	ORPHA:656
HP:0012337	Abnormal homeostasis	54345	SOX18	OMIM:137940
HP:0012337	Abnormal homeostasis	54345	SOX18	OMIM:607823
HP:0012337	Abnormal homeostasis	54345	SOX18	ORPHA:69735
HP:0012337	Abnormal homeostasis	2290	FOXG1	ORPHA:261144
HP:0012337	Abnormal homeostasis	54453	RIN2	OMIM:613075
HP:0012337	Abnormal homeostasis	6711	SPTBN1	OMIM:619475
HP:0012337	Abnormal homeostasis	85358	SHANK3	ORPHA:48652
HP:0012337	Abnormal homeostasis	85358	SHANK3	OMIM:606232
HP:0012337	Abnormal homeostasis	7045	TGFBI	OMIM:608470
HP:0012337	Abnormal homeostasis	9326	ZNHIT3	ORPHA:2836
HP:0012337	Abnormal homeostasis	547	KIF1A	ORPHA:2836
HP:0012337	Abnormal homeostasis	5828	PEX2	OMIM:614866
HP:0012337	Abnormal homeostasis	5457	POU4F1	ORPHA:314647
HP:0012337	Abnormal homeostasis	23261	CAMTA1	ORPHA:314647
HP:0012337	Abnormal homeostasis	23261	CAMTA1	OMIM:614756
HP:0012337	Abnormal homeostasis	5830	PEX5	OMIM:214110
HP:0012337	Abnormal homeostasis	83550	GPR101	ORPHA:963
HP:0012337	Abnormal homeostasis	5293	PIK3CD	ORPHA:221139
HP:0012337	Abnormal homeostasis	90417	KNSTRN	ORPHA:221139
HP:0012337	Abnormal homeostasis	22947	DUX4L1	ORPHA:269
HP:0012337	Abnormal homeostasis	1789	DNMT3B	ORPHA:269
HP:0012337	Abnormal homeostasis	2483	FRG1	ORPHA:269
HP:0012337	Abnormal homeostasis	23347	SMCHD1	ORPHA:269
HP:0012337	Abnormal homeostasis	100288687	DUX4	ORPHA:269
HP:0012337	Abnormal homeostasis	71	ACTG1	ORPHA:2995
HP:0012337	Abnormal homeostasis	60	ACTB	ORPHA:2995
HP:0012337	Abnormal homeostasis	7512	XPNPEP2	ORPHA:100057
HP:0012337	Abnormal homeostasis	11133	KPTN	ORPHA:397612
HP:0012337	Abnormal homeostasis	84168	ANTXR1	ORPHA:2067
HP:0012337	Abnormal homeostasis	5723	PSPH	ORPHA:79350
HP:0012337	Abnormal homeostasis	79158	GNPTAB	OMIM:252500
HP:0012337	Abnormal homeostasis	57231	SNX14	ORPHA:397709
HP:0012337	Abnormal homeostasis	55343	SLC35C1	ORPHA:99843
HP:0012337	Abnormal homeostasis	55691	FRMD4A	ORPHA:466688
HP:0012337	Abnormal homeostasis	137814	NKX2-6	ORPHA:3384
HP:0012337	Abnormal homeostasis	23129	PLXND1	ORPHA:3384
HP:0012337	Abnormal homeostasis	4607	MYBPC3	OMIM:115197
HP:0012337	Abnormal homeostasis	7276	TTR	OMIM:105210
HP:0012337	Abnormal homeostasis	6440	SFTPC	ORPHA:70587
HP:0012337	Abnormal homeostasis	21	ABCA3	ORPHA:70587
HP:0012337	Abnormal homeostasis	6439	SFTPB	ORPHA:70587
HP:0012337	Abnormal homeostasis	4558	MT-TF	ORPHA:550
HP:0012337	Abnormal homeostasis	4572	MT-TQ	ORPHA:550
HP:0012337	Abnormal homeostasis	4512	MT-CO1	ORPHA:550
HP:0012337	Abnormal homeostasis	4513	MT-CO2	ORPHA:550
HP:0012337	Abnormal homeostasis	4514	MT-CO3	ORPHA:550
HP:0012337	Abnormal homeostasis	4578	MT-TW	ORPHA:550
HP:0012337	Abnormal homeostasis	4540	MT-ND5	ORPHA:550
HP:0012337	Abnormal homeostasis	4541	MT-ND6	ORPHA:550
HP:0012337	Abnormal homeostasis	4535	MT-ND1	ORPHA:550
HP:0012337	Abnormal homeostasis	4538	MT-ND4	ORPHA:550
HP:0012337	Abnormal homeostasis	4567	MT-TL1	ORPHA:550
HP:0012337	Abnormal homeostasis	4574	MT-TS1	ORPHA:550
HP:0012337	Abnormal homeostasis	4575	MT-TS2	ORPHA:550
HP:0012337	Abnormal homeostasis	4564	MT-TH	ORPHA:550
HP:0012337	Abnormal homeostasis	6772	STAT1	ORPHA:391487
HP:0012337	Abnormal homeostasis	10043	TOM1	ORPHA:391487
HP:0012337	Abnormal homeostasis	23019	CNOT1	OMIM:618500
HP:0012337	Abnormal homeostasis	10068	IL18BP	OMIM:618549
HP:0012337	Abnormal homeostasis	2321	FLT1	ORPHA:275555
HP:0012337	Abnormal homeostasis	219736	STOX1	ORPHA:275555
HP:0012337	Abnormal homeostasis	10699	CORIN	ORPHA:275555
HP:0012337	Abnormal homeostasis	987	LRBA	OMIM:614700
HP:0012337	Abnormal homeostasis	50943	FOXP3	OMIM:304790
HP:0012337	Abnormal homeostasis	50943	FOXP3	ORPHA:37042
HP:0012337	Abnormal homeostasis	55315	SLC29A3	OMIM:602782
HP:0012337	Abnormal homeostasis	60401	EDA2R	ORPHA:181
HP:0012337	Abnormal homeostasis	1896	EDA	ORPHA:181
HP:0012337	Abnormal homeostasis	83737	ITCH	OMIM:613385
HP:0012337	Abnormal homeostasis	83737	ITCH	ORPHA:228426
HP:0012337	Abnormal homeostasis	84340	GFM2	OMIM:618397
HP:0012337	Abnormal homeostasis	50674	NEUROG3	ORPHA:83620
HP:0012337	Abnormal homeostasis	51816	ADA2	OMIM:615688
HP:0012337	Abnormal homeostasis	2542	SLC37A4	OMIM:619525
HP:0012337	Abnormal homeostasis	7086	TKT	ORPHA:488618
HP:0012337	Abnormal homeostasis	2859	GPR35	ORPHA:171
HP:0012337	Abnormal homeostasis	10507	SEMA4D	ORPHA:171
HP:0012337	Abnormal homeostasis	4485	MST1	ORPHA:171
HP:0012337	Abnormal homeostasis	6925	TCF4	ORPHA:171
HP:0012337	Abnormal homeostasis	326	AIRE	OMIM:240300
HP:0012337	Abnormal homeostasis	1777	DNASE2	OMIM:619858
HP:0012337	Abnormal homeostasis	10273	STUB1	ORPHA:412057
HP:0012337	Abnormal homeostasis	284252	KCTD1	ORPHA:2036
HP:0012337	Abnormal homeostasis	5297	PI4KA	ORPHA:436252
HP:0012337	Abnormal homeostasis	57217	TTC7A	ORPHA:436252
HP:0012337	Abnormal homeostasis	847	CAT	ORPHA:926
HP:0012337	Abnormal homeostasis	3117	HLA-DQA1	OMIM:212750
HP:0012337	Abnormal homeostasis	3119	HLA-DQB1	OMIM:212750
HP:0012337	Abnormal homeostasis	9570	GOSR2	OMIM:620166
HP:0012337	Abnormal homeostasis	4556	MT-TE	ORPHA:2596
HP:0012337	Abnormal homeostasis	1854	DUT	OMIM:620044
HP:0012337	Abnormal homeostasis	51311	TLR8	OMIM:301078
HP:0012337	Abnormal homeostasis	4313	MMP2	ORPHA:371428
HP:0012337	Abnormal homeostasis	4323	MMP14	ORPHA:371428
HP:0012337	Abnormal homeostasis	857	CAV1	OMIM:606721
HP:0012337	Abnormal homeostasis	5611	DNAJC3	OMIM:616192
HP:0012337	Abnormal homeostasis	375056	MIA3	OMIM:619269
HP:0012337	Abnormal homeostasis	9451	EIF2AK3	OMIM:226980
HP:0012337	Abnormal homeostasis	23312	DMXL2	OMIM:616113
HP:0012337	Abnormal homeostasis	9051	PSTPIP1	ORPHA:69126
HP:0012337	Abnormal homeostasis	6688	SPI1	OMIM:619707
HP:0012337	Abnormal homeostasis	3559	IL2RA	OMIM:606367
HP:0012337	Abnormal homeostasis	1188	CLCNKB	ORPHA:358
HP:0012337	Abnormal homeostasis	6559	SLC12A3	ORPHA:358
HP:0012337	Abnormal homeostasis	5340	PLG	OMIM:619360
HP:0012337	Abnormal homeostasis	1369	CPN1	OMIM:212070
HP:0012337	Abnormal homeostasis	284	ANGPT1	OMIM:619361
HP:0012337	Abnormal homeostasis	26509	MYOF	OMIM:619366
HP:0012337	Abnormal homeostasis	64711	HS3ST6	OMIM:619367
HP:0012337	Abnormal homeostasis	3827	KNG1	OMIM:619363
HP:0012337	Abnormal homeostasis	11005	SPINK5	OMIM:256500
HP:0012337	Abnormal homeostasis	5336	PLCG2	OMIM:614468
HP:0012337	Abnormal homeostasis	1776	DNASE1L3	ORPHA:36412
HP:0012337	Abnormal homeostasis	2161	F12	OMIM:610618
HP:0012337	Abnormal homeostasis	8291	DYSF	ORPHA:268
HP:0012337	Abnormal homeostasis	776	CACNA1D	ORPHA:369929
HP:0012337	Abnormal homeostasis	776	CACNA1D	OMIM:615474
HP:0012337	Abnormal homeostasis	1181	CLCN2	ORPHA:404
HP:0012338	Abnormal energy expenditure	6492	SIM1	ORPHA:369873
HP:0012338	Abnormal energy expenditure	154	ADRB2	OMIM:601665
HP:0012338	Abnormal energy expenditure	155	ADRB3	OMIM:601665
HP:0012338	Abnormal energy expenditure	5167	ENPP1	OMIM:601665
HP:0012338	Abnormal energy expenditure	7352	UCP3	OMIM:601665
HP:0012338	Abnormal energy expenditure	8431	NR0B2	OMIM:601665
HP:0012338	Abnormal energy expenditure	9607	CARTPT	OMIM:601665
HP:0012338	Abnormal energy expenditure	5443	POMC	OMIM:601665
HP:0012338	Abnormal energy expenditure	51738	GHRL	OMIM:601665
HP:0012338	Abnormal energy expenditure	5468	PPARG	OMIM:601665
HP:0012338	Abnormal energy expenditure	9672	SDC3	OMIM:601665
HP:0012338	Abnormal energy expenditure	181	AGRP	OMIM:601665
HP:0012338	Abnormal energy expenditure	55768	NGLY1	ORPHA:404454
HP:0012339	Increased resting energy expenditure	6492	SIM1	ORPHA:369873
HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	5649	RELN	OMIM:600512
HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	64780	MICAL1	OMIM:600512
HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	9211	LGI1	OMIM:600512
HP:0002121	Generalized non-motor (absence) seizure	84706	GPT2	OMIM:616281
HP:0002121	Generalized non-motor (absence) seizure	4524	MTHFR	ORPHA:395
HP:0002121	Generalized non-motor (absence) seizure	4791	NFKB2	ORPHA:293978
HP:0002121	Generalized non-motor (absence) seizure	26960	NBEA	OMIM:619157
HP:0002121	Generalized non-motor (absence) seizure	340533	NEXMIF	OMIM:300912
HP:0002121	Generalized non-motor (absence) seizure	340533	NEXMIF	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	57468	SLC12A5	OMIM:616685
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	OMIM:615871
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	OMIM:618482
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	8733	GPAA1	OMIM:617810
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	OMIM:254770
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	OMIM:607631
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	ORPHA:1941
HP:0002121	Generalized non-motor (absence) seizure	11133	KPTN	OMIM:615637
HP:0002121	Generalized non-motor (absence) seizure	781	CACNA2D1	OMIM:620149
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	OMIM:613060
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	1181	CLCN2	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	1181	CLCN2	OMIM:607628
HP:0002121	Generalized non-motor (absence) seizure	3786	KCNQ3	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	3786	KCNQ3	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	22858	CILK1	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	22858	CILK1	OMIM:617924
HP:0002121	Generalized non-motor (absence) seizure	6334	SCN8A	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	6334	SCN8A	OMIM:614558
HP:0002121	Generalized non-motor (absence) seizure	112476	PRRT2	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	112476	PRRT2	ORPHA:98811
HP:0002121	Generalized non-motor (absence) seizure	3785	KCNQ2	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	79813	EHMT1	ORPHA:96147
HP:0002121	Generalized non-motor (absence) seizure	64324	NSD1	ORPHA:821
HP:0002121	Generalized non-motor (absence) seizure	29072	SETD2	ORPHA:821
HP:0002121	Generalized non-motor (absence) seizure	10297	APC2	ORPHA:821
HP:0002121	Generalized non-motor (absence) seizure	80232	WDR26	ORPHA:513456
HP:0002121	Generalized non-motor (absence) seizure	54344	DPM3	OMIM:618992
HP:0002121	Generalized non-motor (absence) seizure	5515	PPP2CA	OMIM:618354
HP:0002121	Generalized non-motor (absence) seizure	24137	KIF4A	OMIM:300923
HP:0002121	Generalized non-motor (absence) seizure	6096	RORB	OMIM:618357
HP:0002121	Generalized non-motor (absence) seizure	112755	STX1B	OMIM:616172
HP:0002121	Generalized non-motor (absence) seizure	112755	STX1B	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	478	ATP1A3	OMIM:619606
HP:0002121	Generalized non-motor (absence) seizure	2782	GNB1	OMIM:616973
HP:0002121	Generalized non-motor (absence) seizure	7532	YWHAG	OMIM:617665
HP:0002121	Generalized non-motor (absence) seizure	80055	PGAP1	OMIM:615802
HP:0002121	Generalized non-motor (absence) seizure	1476	CSTB	OMIM:254800
HP:0002121	Generalized non-motor (absence) seizure	55768	NGLY1	ORPHA:404454
HP:0002121	Generalized non-motor (absence) seizure	3908	LAMA2	ORPHA:258
HP:0002121	Generalized non-motor (absence) seizure	347733	TUBB2B	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	7846	TUBA1A	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	10381	TUBB3	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	6609	SMPD1	ORPHA:77293
HP:0002121	Generalized non-motor (absence) seizure	3899	AFF3	OMIM:619297
HP:0002121	Generalized non-motor (absence) seizure	80224	NUBPL	OMIM:618242
HP:0002121	Generalized non-motor (absence) seizure	79029	AFG2B	OMIM:619616
HP:0002121	Generalized non-motor (absence) seizure	116150	NUS1	OMIM:617831
HP:0002121	Generalized non-motor (absence) seizure	815	CAMK2A	OMIM:617798
HP:0002121	Generalized non-motor (absence) seizure	2664	GDI1	OMIM:300849
HP:0002121	Generalized non-motor (absence) seizure	2770	GNAI1	OMIM:619854
HP:0002121	Generalized non-motor (absence) seizure	27315	PGAP2	OMIM:614207
HP:0002121	Generalized non-motor (absence) seizure	84188	FAR1	OMIM:619338
HP:0002121	Generalized non-motor (absence) seizure	1183	CLCN4	ORPHA:485350
HP:0002121	Generalized non-motor (absence) seizure	9570	GOSR2	OMIM:620166
HP:0002121	Generalized non-motor (absence) seizure	9570	GOSR2	OMIM:614018
HP:0002121	Generalized non-motor (absence) seizure	23327	NEDD4L	OMIM:617201
HP:0002121	Generalized non-motor (absence) seizure	23152	CIC	OMIM:617600
HP:0002121	Generalized non-motor (absence) seizure	4915	NTRK2	OMIM:613886
HP:0002121	Generalized non-motor (absence) seizure	1954	MEGF8	OMIM:614976
HP:0002121	Generalized non-motor (absence) seizure	6304	SATB1	OMIM:619229
HP:0002121	Generalized non-motor (absence) seizure	26227	PHGDH	ORPHA:79351
HP:0002121	Generalized non-motor (absence) seizure	84059	ADGRV1	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	7915	ALDH5A1	OMIM:271980
HP:0002121	Generalized non-motor (absence) seizure	2746	GLUD1	ORPHA:35878
HP:0002121	Generalized non-motor (absence) seizure	51604	PIGT	OMIM:615398
HP:0002121	Generalized non-motor (absence) seizure	51604	PIGT	ORPHA:369837
HP:0002121	Generalized non-motor (absence) seizure	5063	PAK3	OMIM:300558
HP:0002121	Generalized non-motor (absence) seizure	3747	KCNC2	OMIM:619913
HP:0002121	Generalized non-motor (absence) seizure	23443	SLC35A3	OMIM:615553
HP:0002121	Generalized non-motor (absence) seizure	23443	SLC35A3	ORPHA:370943
HP:0002121	Generalized non-motor (absence) seizure	23040	MYT1L	OMIM:616521
HP:0002121	Generalized non-motor (absence) seizure	85440	DOCK7	ORPHA:411986
HP:0002121	Generalized non-motor (absence) seizure	80036	TRPM3	OMIM:620224
HP:0002121	Generalized non-motor (absence) seizure	57459	GATAD2B	ORPHA:363686
HP:0002121	Generalized non-motor (absence) seizure	6595	SMARCA2	ORPHA:3051
HP:0002121	Generalized non-motor (absence) seizure	55210	ATAD3A	OMIM:617183
HP:0002121	Generalized non-motor (absence) seizure	10472	ZBTB18	OMIM:612337
HP:0002121	Generalized non-motor (absence) seizure	23031	MAST3	OMIM:620115
HP:0002121	Generalized non-motor (absence) seizure	2556	GABRA3	OMIM:301091
HP:0002121	Generalized non-motor (absence) seizure	6529	SLC6A1	OMIM:616421
HP:0002121	Generalized non-motor (absence) seizure	6529	SLC6A1	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	6651	SON	ORPHA:500150
HP:0002121	Generalized non-motor (absence) seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0002121	Generalized non-motor (absence) seizure	2146	EZH2	OMIM:277590
HP:0002121	Generalized non-motor (absence) seizure	1719	DHFR	OMIM:613839
HP:0002121	Generalized non-motor (absence) seizure	54936	ADPRS	OMIM:618170
HP:0002121	Generalized non-motor (absence) seizure	4204	MECP2	OMIM:300260
HP:0002121	Generalized non-motor (absence) seizure	1893	ECM1	OMIM:247100
HP:0002121	Generalized non-motor (absence) seizure	8621	CDK13	OMIM:617360
HP:0002121	Generalized non-motor (absence) seizure	93183	PIGM	OMIM:610293
HP:0002121	Generalized non-motor (absence) seizure	93587	TRMT10A	OMIM:616033
HP:0002121	Generalized non-motor (absence) seizure	2702	GJA5	OMIM:612474
HP:0002121	Generalized non-motor (absence) seizure	2703	GJA8	OMIM:612474
HP:0002121	Generalized non-motor (absence) seizure	6792	CDKL5	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	3736	KCNA1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	9091	PIGQ	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2775	GNAO1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2902	GRIN1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	79751	SLC25A22	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	150094	SIK1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	8573	CASK	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	23312	DMXL2	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2917	GRM7	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	170302	ARX	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	11284	PNKP	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	51227	PIGP	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	4761	NEUROD2	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	57526	PCDH19	ORPHA:101039
HP:0002121	Generalized non-motor (absence) seizure	57526	PCDH19	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	7337	UBE3A	ORPHA:98795
HP:0002121	Generalized non-motor (absence) seizure	3192	HNRNPU	OMIM:617391
HP:0002121	Generalized non-motor (absence) seizure	6324	SCN1B	OMIM:617350
HP:0002121	Generalized non-motor (absence) seizure	6324	SCN1B	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	1173	AP2M1	OMIM:618587
HP:0002121	Generalized non-motor (absence) seizure	2562	GABRB3	OMIM:617113
HP:0002121	Generalized non-motor (absence) seizure	2562	GABRB3	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	343450	KCNT2	OMIM:617771
HP:0002121	Generalized non-motor (absence) seizure	5530	PPP3CA	OMIM:617711
HP:0002121	Generalized non-motor (absence) seizure	1759	DNM1	OMIM:616346
HP:0002121	Generalized non-motor (absence) seizure	1759	DNM1	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	23334	SZT2	OMIM:615476
HP:0002121	Generalized non-motor (absence) seizure	785	CACNB4	OMIM:613855
HP:0002121	Generalized non-motor (absence) seizure	785	CACNB4	OMIM:607682
HP:0002121	Generalized non-motor (absence) seizure	81570	CLPB	OMIM:619835
HP:0002121	Generalized non-motor (absence) seizure	23732	FRRS1L	ORPHA:725
HP:0002121	Generalized non-motor (absence) seizure	2903	GRIN2A	ORPHA:725
HP:0002121	Generalized non-motor (absence) seizure	2903	GRIN2A	ORPHA:1945
HP:0002121	Generalized non-motor (absence) seizure	2903	GRIN2A	ORPHA:98818
HP:0002121	Generalized non-motor (absence) seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002121	Generalized non-motor (absence) seizure	27286	SRPX2	ORPHA:1945
HP:0002121	Generalized non-motor (absence) seizure	2566	GABRG2	ORPHA:1945
HP:0002121	Generalized non-motor (absence) seizure	2566	GABRG2	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	2566	GABRG2	OMIM:618396
HP:0002121	Generalized non-motor (absence) seizure	6335	SCN9A	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	6326	SCN2A	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	2554	GABRA1	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	ORPHA:33069
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	378884	NHLRC1	ORPHA:501
HP:0002121	Generalized non-motor (absence) seizure	7957	EPM2A	ORPHA:501
HP:0002121	Generalized non-motor (absence) seizure	9839	ZEB2	ORPHA:261537
HP:0002121	Generalized non-motor (absence) seizure	9839	ZEB2	ORPHA:261552
HP:0002121	Generalized non-motor (absence) seizure	3778	KCNMA1	OMIM:618596
HP:0002121	Generalized non-motor (absence) seizure	5602	MAPK10	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	773	CACNA1A	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	23316	CUX2	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	1106	CHD2	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	387119	CEP85L	OMIM:618873
HP:0002121	Generalized non-motor (absence) seizure	3745	KCNB1	OMIM:616056
HP:0002121	Generalized non-motor (absence) seizure	81603	TRIM8	OMIM:619428
HP:0002121	Generalized non-motor (absence) seizure	23314	SATB2	ORPHA:576283
HP:0002121	Generalized non-motor (absence) seizure	3190	HNRNPK	ORPHA:453504
HP:0002121	Generalized non-motor (absence) seizure	3190	HNRNPK	ORPHA:352665
HP:0002121	Generalized non-motor (absence) seizure	7840	ALMS1	ORPHA:64
HP:0002121	Generalized non-motor (absence) seizure	427	ASAH1	ORPHA:2590
HP:0002121	Generalized non-motor (absence) seizure	1281	COL3A1	OMIM:618343
HP:0002121	Generalized non-motor (absence) seizure	1859	DYRK1A	ORPHA:268261
HP:0002121	Generalized non-motor (absence) seizure	54496	PRMT7	OMIM:617157
HP:0002121	Generalized non-motor (absence) seizure	23394	ADNP	OMIM:615873
HP:0002121	Generalized non-motor (absence) seizure	23219	FBXO28	OMIM:619777
HP:0002121	Generalized non-motor (absence) seizure	51322	WAC	ORPHA:466950
HP:0002121	Generalized non-motor (absence) seizure	1917	EEF1A2	OMIM:616409
HP:0002121	Generalized non-motor (absence) seizure	51343	FZR1	OMIM:620145
HP:0002121	Generalized non-motor (absence) seizure	9289	ADGRG1	ORPHA:101070
HP:0002121	Generalized non-motor (absence) seizure	5728	PTEN	ORPHA:101070
HP:0002121	Generalized non-motor (absence) seizure	8831	SYNGAP1	OMIM:612621
HP:0002121	Generalized non-motor (absence) seizure	8831	SYNGAP1	ORPHA:544254
HP:0002121	Generalized non-motor (absence) seizure	79947	DHDDS	OMIM:617836
HP:0002121	Generalized non-motor (absence) seizure	6513	SLC2A1	ORPHA:64280
HP:0002121	Generalized non-motor (absence) seizure	8912	CACNA1H	ORPHA:64280
HP:0002121	Generalized non-motor (absence) seizure	8629	JRK	ORPHA:64280
HP:0002121	Generalized non-motor (absence) seizure	23067	SETD1B	OMIM:619000
HP:0002121	Generalized non-motor (absence) seizure	8659	ALDH4A1	ORPHA:79101
HP:0002121	Generalized non-motor (absence) seizure	8813	DPM1	ORPHA:79322
HP:0002121	Generalized non-motor (absence) seizure	501	ALDH7A1	ORPHA:3006
HP:0002121	Generalized non-motor (absence) seizure	11212	PLPBP	ORPHA:3006
HP:0010819	Atonic seizure	610	HCN2	OMIM:602477
HP:0010819	Atonic seizure	6323	SCN1A	OMIM:607208
HP:0010819	Atonic seizure	6323	SCN1A	OMIM:604403
HP:0010819	Atonic seizure	6323	SCN1A	ORPHA:1942
HP:0010819	Atonic seizure	6323	SCN1A	ORPHA:2382
HP:0010819	Atonic seizure	6323	SCN1A	ORPHA:36387
HP:0010819	Atonic seizure	57526	PCDH19	ORPHA:101039
HP:0010819	Atonic seizure	57526	PCDH19	OMIM:300088
HP:0010819	Atonic seizure	340533	NEXMIF	OMIM:300912
HP:0010819	Atonic seizure	340533	NEXMIF	ORPHA:1942
HP:0010819	Atonic seizure	1173	AP2M1	OMIM:618587
HP:0010819	Atonic seizure	1173	AP2M1	ORPHA:1942
HP:0010819	Atonic seizure	2903	GRIN2A	OMIM:245570
HP:0010819	Atonic seizure	2903	GRIN2A	ORPHA:725
HP:0010819	Atonic seizure	23316	CUX2	OMIM:618141
HP:0010819	Atonic seizure	23316	CUX2	ORPHA:2382
HP:0010819	Atonic seizure	9853	RUSC2	OMIM:617773
HP:0010819	Atonic seizure	1859	DYRK1A	ORPHA:268261
HP:0010819	Atonic seizure	3747	KCNC2	OMIM:619913
HP:0010819	Atonic seizure	8733	GPAA1	OMIM:617810
HP:0010819	Atonic seizure	85440	DOCK7	ORPHA:411986
HP:0010819	Atonic seizure	85440	DOCK7	OMIM:615859
HP:0010819	Atonic seizure	8659	ALDH4A1	ORPHA:79101
HP:0010819	Atonic seizure	51343	FZR1	OMIM:620145
HP:0010819	Atonic seizure	378884	NHLRC1	ORPHA:501
HP:0010819	Atonic seizure	7957	EPM2A	ORPHA:501
HP:0010819	Atonic seizure	10159	ATP6AP2	ORPHA:93952
HP:0010819	Atonic seizure	83475	DOHH	OMIM:620066
HP:0010819	Atonic seizure	9289	ADGRG1	ORPHA:101070
HP:0010819	Atonic seizure	5728	PTEN	ORPHA:101070
HP:0010819	Atonic seizure	1457	CSNK2A1	OMIM:617062
HP:0010819	Atonic seizure	2593	GAMT	ORPHA:382
HP:0010819	Atonic seizure	2593	GAMT	OMIM:612736
HP:0010819	Atonic seizure	387119	CEP85L	OMIM:618873
HP:0010819	Atonic seizure	79868	ALG13	OMIM:300884
HP:0010819	Atonic seizure	112755	STX1B	OMIM:616172
HP:0010819	Atonic seizure	112755	STX1B	ORPHA:36387
HP:0010819	Atonic seizure	2566	GABRG2	OMIM:618396
HP:0010819	Atonic seizure	2566	GABRG2	ORPHA:36387
HP:0010819	Atonic seizure	3745	KCNB1	OMIM:616056
HP:0010819	Atonic seizure	6487	ST3GAL3	OMIM:615006
HP:0010819	Atonic seizure	1106	CHD2	OMIM:615369
HP:0010819	Atonic seizure	1106	CHD2	ORPHA:1942
HP:0010819	Atonic seizure	1106	CHD2	ORPHA:2382
HP:0010819	Atonic seizure	2782	GNB1	OMIM:616973
HP:0010819	Atonic seizure	10565	ARFGEF1	OMIM:619964
HP:0010819	Atonic seizure	23096	IQSEC2	OMIM:309530
HP:0010819	Atonic seizure	23031	MAST3	OMIM:620115
HP:0010819	Atonic seizure	5290	PIK3CA	ORPHA:99802
HP:0010819	Atonic seizure	2475	MTOR	ORPHA:99802
HP:0010819	Atonic seizure	10000	AKT3	ORPHA:99802
HP:0010819	Atonic seizure	55768	NGLY1	ORPHA:404454
HP:0010819	Atonic seizure	427	ASAH1	ORPHA:2590
HP:0010819	Atonic seizure	3192	HNRNPU	OMIM:617391
HP:0010819	Atonic seizure	1351	COX8A	OMIM:619059
HP:0010819	Atonic seizure	2898	GRIK2	OMIM:611092
HP:0010819	Atonic seizure	10588	MTHFS	OMIM:618367
HP:0010819	Atonic seizure	6529	SLC6A1	OMIM:616421
HP:0010819	Atonic seizure	6529	SLC6A1	ORPHA:1942
HP:0010819	Atonic seizure	2562	GABRB3	OMIM:617113
HP:0010819	Atonic seizure	2562	GABRB3	ORPHA:2382
HP:0010819	Atonic seizure	54496	PRMT7	OMIM:617157
HP:0010819	Atonic seizure	816	CAMK2B	OMIM:617799
HP:0010819	Atonic seizure	1759	DNM1	OMIM:616346
HP:0010819	Atonic seizure	1759	DNM1	ORPHA:2382
HP:0010819	Atonic seizure	23732	FRRS1L	ORPHA:725
HP:0010819	Atonic seizure	84059	ADGRV1	OMIM:604352
HP:0010819	Atonic seizure	84059	ADGRV1	ORPHA:36387
HP:0010819	Atonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0010819	Atonic seizure	6324	SCN1B	OMIM:604233
HP:0010819	Atonic seizure	6324	SCN1B	ORPHA:1934
HP:0010819	Atonic seizure	6324	SCN1B	ORPHA:36387
HP:0010819	Atonic seizure	8813	DPM1	ORPHA:79322
HP:0010819	Atonic seizure	6513	SLC2A1	ORPHA:1942
HP:0010819	Atonic seizure	8831	SYNGAP1	ORPHA:1942
HP:0010819	Atonic seizure	501	ALDH7A1	ORPHA:3006
HP:0010819	Atonic seizure	11212	PLPBP	ORPHA:3006
HP:0010819	Atonic seizure	5602	MAPK10	ORPHA:2382
HP:0010819	Atonic seizure	773	CACNA1A	ORPHA:2382
HP:0010819	Atonic seizure	1496	CTNNA2	OMIM:618174
HP:0010819	Atonic seizure	93183	PIGM	OMIM:610293
HP:0010819	Atonic seizure	2783	GNB2	OMIM:619503
HP:0010819	Atonic seizure	2554	GABRA1	OMIM:615744
HP:0010819	Atonic seizure	9570	GOSR2	OMIM:614018
HP:0010819	Atonic seizure	26227	PHGDH	ORPHA:79351
HP:0010819	Atonic seizure	144165	PRICKLE1	OMIM:612437
HP:0010819	Atonic seizure	6792	CDKL5	ORPHA:1934
HP:0010819	Atonic seizure	3736	KCNA1	ORPHA:1934
HP:0010819	Atonic seizure	9091	PIGQ	ORPHA:1934
HP:0010819	Atonic seizure	2775	GNAO1	ORPHA:1934
HP:0010819	Atonic seizure	81603	TRIM8	ORPHA:1934
HP:0010819	Atonic seizure	2902	GRIN1	ORPHA:1934
HP:0010819	Atonic seizure	2902	GRIN1	ORPHA:208447
HP:0010819	Atonic seizure	79751	SLC25A22	ORPHA:1934
HP:0010819	Atonic seizure	150094	SIK1	ORPHA:1934
HP:0010819	Atonic seizure	8573	CASK	ORPHA:1934
HP:0010819	Atonic seizure	23312	DMXL2	ORPHA:1934
HP:0010819	Atonic seizure	2917	GRM7	ORPHA:1934
HP:0010819	Atonic seizure	170302	ARX	ORPHA:1934
HP:0010819	Atonic seizure	11284	PNKP	ORPHA:1934
HP:0010819	Atonic seizure	6326	SCN2A	ORPHA:1934
HP:0010819	Atonic seizure	6326	SCN2A	ORPHA:36387
HP:0010819	Atonic seizure	51227	PIGP	ORPHA:1934
HP:0010819	Atonic seizure	4761	NEUROD2	ORPHA:1934
HP:0010819	Atonic seizure	6335	SCN9A	ORPHA:36387
HP:0010819	Atonic seizure	2563	GABRD	ORPHA:36387
HP:0010819	Atonic seizure	348980	HCN1	ORPHA:36387
HP:0001250	Seizure	6515	SLC2A3	ORPHA:399
HP:0001250	Seizure	875	CBS	ORPHA:394
HP:0001250	Seizure	875	CBS	OMIM:236200
HP:0001250	Seizure	23394	ADNP	ORPHA:404448
HP:0001250	Seizure	23394	ADNP	OMIM:615873
HP:0001250	Seizure	51399	TRAPPC4	OMIM:618741
HP:0001250	Seizure	1139	CHRNA7	ORPHA:199318
HP:0001250	Seizure	1139	CHRNA7	OMIM:612001
HP:0001250	Seizure	51569	UFM1	OMIM:617899
HP:0001250	Seizure	1024	CDK8	OMIM:618748
HP:0001250	Seizure	7360	UGP2	OMIM:618744
HP:0001250	Seizure	2731	GLDC	OMIM:605899
HP:0001250	Seizure	275	AMT	OMIM:605899
HP:0001250	Seizure	3909	LAMA3	ORPHA:79404
HP:0001250	Seizure	3918	LAMC2	ORPHA:79404
HP:0001250	Seizure	3914	LAMB3	ORPHA:79404
HP:0001250	Seizure	3481	IGF2	ORPHA:231140
HP:0001250	Seizure	283120	H19	ORPHA:231140
HP:0001250	Seizure	2737	GLI3	ORPHA:380
HP:0001250	Seizure	2737	GLI3	OMIM:175700
HP:0001250	Seizure	2737	GLI3	OMIM:146510
HP:0001250	Seizure	396	ARHGDIA	OMIM:615244
HP:0001250	Seizure	2348	FOLR1	OMIM:613068
HP:0001250	Seizure	23322	RPGRIP1L	ORPHA:220497
HP:0001250	Seizure	23322	RPGRIP1L	ORPHA:1454
HP:0001250	Seizure	4867	NPHP1	ORPHA:220497
HP:0001250	Seizure	65062	TMEM237	ORPHA:220497
HP:0001250	Seizure	65062	TMEM237	ORPHA:2318
HP:0001250	Seizure	65062	TMEM237	ORPHA:475
HP:0001250	Seizure	27245	AHDC1	ORPHA:412069
HP:0001250	Seizure	2137	EXTL3	OMIM:617425
HP:0001250	Seizure	2137	EXTL3	ORPHA:508533
HP:0001250	Seizure	166378	AFG2A	OMIM:616577
HP:0001250	Seizure	84466	MEGF10	OMIM:614399
HP:0001250	Seizure	54806	AHI1	ORPHA:220493
HP:0001250	Seizure	54806	AHI1	ORPHA:475
HP:0001250	Seizure	56623	INPP5E	ORPHA:220493
HP:0001250	Seizure	56623	INPP5E	ORPHA:1454
HP:0001250	Seizure	56623	INPP5E	ORPHA:475
HP:0001250	Seizure	153241	CEP120	ORPHA:220493
HP:0001250	Seizure	153241	CEP120	ORPHA:475
HP:0001250	Seizure	54903	MKS1	ORPHA:220493
HP:0001250	Seizure	54903	MKS1	ORPHA:475
HP:0001250	Seizure	95681	CEP41	ORPHA:220493
HP:0001250	Seizure	95681	CEP41	ORPHA:475
HP:0001250	Seizure	84197	POMK	OMIM:615249
HP:0001250	Seizure	84197	POMK	ORPHA:370959
HP:0001250	Seizure	84197	POMK	ORPHA:899
HP:0001250	Seizure	1161	ERCC8	OMIM:216400
HP:0001250	Seizure	1161	ERCC8	ORPHA:90324
HP:0001250	Seizure	1161	ERCC8	ORPHA:90321
HP:0001250	Seizure	488	ATP2A2	OMIM:124200
HP:0001250	Seizure	317662	FAM149B1	OMIM:618763
HP:0001250	Seizure	317662	FAM149B1	ORPHA:2754
HP:0001250	Seizure	7436	VLDLR	OMIM:224050
HP:0001250	Seizure	7436	VLDLR	ORPHA:1766
HP:0001250	Seizure	55681	SCYL2	OMIM:618766
HP:0001250	Seizure	5191	PEX7	OMIM:215100
HP:0001250	Seizure	2697	GJA1	ORPHA:2710
HP:0001250	Seizure	2697	GJA1	ORPHA:1010
HP:0001250	Seizure	2697	GJA1	OMIM:164200
HP:0001250	Seizure	9401	RECQL4	OMIM:218600
HP:0001250	Seizure	171023	ASXL1	ORPHA:97297
HP:0001250	Seizure	171023	ASXL1	OMIM:605039
HP:0001250	Seizure	4330	MN1	OMIM:618774
HP:0001250	Seizure	3340	NDST1	OMIM:616116
HP:0001250	Seizure	284184	NDUFAF8	OMIM:618776
HP:0001250	Seizure	4247	MGAT2	OMIM:212066
HP:0001250	Seizure	4247	MGAT2	ORPHA:79329
HP:0001250	Seizure	54	ACP5	ORPHA:1855
HP:0001250	Seizure	5373	PMM2	OMIM:212065
HP:0001250	Seizure	5373	PMM2	ORPHA:79318
HP:0001250	Seizure	63901	FAM111A	OMIM:602361
HP:0001250	Seizure	63901	FAM111A	OMIM:127000
HP:0001250	Seizure	1499	CTNNB1	ORPHA:54595
HP:0001250	Seizure	1499	CTNNB1	ORPHA:404473
HP:0001250	Seizure	673	BRAF	ORPHA:54595
HP:0001250	Seizure	673	BRAF	OMIM:613707
HP:0001250	Seizure	673	BRAF	OMIM:613706
HP:0001250	Seizure	673	BRAF	OMIM:115150
HP:0001250	Seizure	8398	PLA2G6	ORPHA:199351
HP:0001250	Seizure	8398	PLA2G6	ORPHA:35069
HP:0001250	Seizure	8398	PLA2G6	OMIM:610217
HP:0001250	Seizure	8398	PLA2G6	OMIM:256600
HP:0001250	Seizure	5476	CTSA	ORPHA:351
HP:0001250	Seizure	5476	CTSA	OMIM:256540
HP:0001250	Seizure	55621	TRMT1	OMIM:618302
HP:0001250	Seizure	6905	TBCE	OMIM:241410
HP:0001250	Seizure	6905	TBCE	OMIM:244460
HP:0001250	Seizure	6905	TBCE	ORPHA:2323
HP:0001250	Seizure	6905	TBCE	OMIM:617207
HP:0001250	Seizure	6905	TBCE	ORPHA:496756
HP:0001250	Seizure	11277	TREX1	OMIM:192315
HP:0001250	Seizure	11277	TREX1	OMIM:225750
HP:0001250	Seizure	11277	TREX1	ORPHA:51
HP:0001250	Seizure	11277	TREX1	OMIM:152700
HP:0001250	Seizure	51633	OTUD6B	OMIM:617452
HP:0001250	Seizure	51633	OTUD6B	ORPHA:505237
HP:0001250	Seizure	9636	ISG15	OMIM:616126
HP:0001250	Seizure	5604	MAP2K1	OMIM:615279
HP:0001250	Seizure	2517	FUCA1	ORPHA:349
HP:0001250	Seizure	2517	FUCA1	OMIM:230000
HP:0001250	Seizure	2203	FBP1	ORPHA:348
HP:0001250	Seizure	2203	FBP1	OMIM:229700
HP:0001250	Seizure	5727	PTCH1	OMIM:610828
HP:0001250	Seizure	5727	PTCH1	ORPHA:220386
HP:0001250	Seizure	5727	PTCH1	ORPHA:280200
HP:0001250	Seizure	5727	PTCH1	ORPHA:77301
HP:0001250	Seizure	5727	PTCH1	ORPHA:93926
HP:0001250	Seizure	5727	PTCH1	ORPHA:93924
HP:0001250	Seizure	5727	PTCH1	ORPHA:93925
HP:0001250	Seizure	4210	MEFV	ORPHA:342
HP:0001250	Seizure	4210	MEFV	ORPHA:117
HP:0001250	Seizure	2736	GLI2	OMIM:610829
HP:0001250	Seizure	2736	GLI2	ORPHA:95494
HP:0001250	Seizure	2736	GLI2	ORPHA:220386
HP:0001250	Seizure	2736	GLI2	ORPHA:280200
HP:0001250	Seizure	2736	GLI2	ORPHA:93926
HP:0001250	Seizure	2736	GLI2	ORPHA:93924
HP:0001250	Seizure	2736	GLI2	ORPHA:93925
HP:0001250	Seizure	3766	KCNJ10	ORPHA:199343
HP:0001250	Seizure	3766	KCNJ10	OMIM:612780
HP:0001250	Seizure	54828	BCAS3	OMIM:619641
HP:0001250	Seizure	1615	DARS1	OMIM:615281
HP:0001250	Seizure	5621	PRNP	ORPHA:157941
HP:0001250	Seizure	5621	PRNP	ORPHA:282166
HP:0001250	Seizure	11041	B4GAT1	OMIM:615287
HP:0001250	Seizure	11041	B4GAT1	ORPHA:899
HP:0001250	Seizure	2232	FDXR	ORPHA:543470
HP:0001250	Seizure	113179	ADAT3	OMIM:615286
HP:0001250	Seizure	113179	ADAT3	ORPHA:363528
HP:0001250	Seizure	1742	DLG4	OMIM:618793
HP:0001250	Seizure	200424	TET3	OMIM:618798
HP:0001250	Seizure	79971	WLS	OMIM:619648
HP:0001250	Seizure	9711	RUBCN	ORPHA:404499
HP:0001250	Seizure	9711	RUBCN	OMIM:615705
HP:0001250	Seizure	10667	FARS2	ORPHA:466722
HP:0001250	Seizure	10667	FARS2	OMIM:614946
HP:0001250	Seizure	57688	ZSWIM6	OMIM:603671
HP:0001250	Seizure	57688	ZSWIM6	ORPHA:1827
HP:0001250	Seizure	51567	TDP2	ORPHA:404493
HP:0001250	Seizure	51567	TDP2	OMIM:616949
HP:0001250	Seizure	90	ACVR1	ORPHA:337
HP:0001250	Seizure	57609	DIP2B	OMIM:136630
HP:0001250	Seizure	4208	MEF2C	ORPHA:228384
HP:0001250	Seizure	4208	MEF2C	OMIM:613443
HP:0001250	Seizure	1436	CSF1R	OMIM:221820
HP:0001250	Seizure	1436	CSF1R	OMIM:618476
HP:0001250	Seizure	775	CACNA1C	OMIM:601005
HP:0001250	Seizure	775	CACNA1C	ORPHA:101016
HP:0001250	Seizure	775	CACNA1C	OMIM:620029
HP:0001250	Seizure	2239	GPC4	ORPHA:373
HP:0001250	Seizure	2719	GPC3	ORPHA:373
HP:0001250	Seizure	55739	NAXD	OMIM:618321
HP:0001250	Seizure	197258	FCSK	OMIM:618324
HP:0001250	Seizure	3423	IDS	OMIM:309900
HP:0001250	Seizure	3423	IDS	ORPHA:217093
HP:0001250	Seizure	3423	IDS	ORPHA:217085
HP:0001250	Seizure	23483	TGDS	OMIM:616145
HP:0001250	Seizure	84168	ANTXR1	OMIM:230740
HP:0001250	Seizure	25836	NIPBL	OMIM:122470
HP:0001250	Seizure	25836	NIPBL	ORPHA:199
HP:0001250	Seizure	4087	SMAD2	OMIM:619657
HP:0001250	Seizure	79648	MCPH1	OMIM:251200
HP:0001250	Seizure	1387	CREBBP	OMIM:618332
HP:0001250	Seizure	1387	CREBBP	ORPHA:353281
HP:0001250	Seizure	1387	CREBBP	ORPHA:353277
HP:0001250	Seizure	1387	CREBBP	OMIM:180849
HP:0001250	Seizure	120	ADD3	OMIM:617008
HP:0001250	Seizure	5426	POLE	OMIM:618336
HP:0001250	Seizure	1203	CLN5	ORPHA:228360
HP:0001250	Seizure	1203	CLN5	OMIM:256731
HP:0001250	Seizure	7291	TWIST1	ORPHA:794
HP:0001250	Seizure	2263	FGFR2	ORPHA:794
HP:0001250	Seizure	2263	FGFR2	ORPHA:93260
HP:0001250	Seizure	2263	FGFR2	ORPHA:93259
HP:0001250	Seizure	2263	FGFR2	ORPHA:2363
HP:0001250	Seizure	2263	FGFR2	OMIM:123500
HP:0001250	Seizure	2639	GCDH	ORPHA:25
HP:0001250	Seizure	2639	GCDH	OMIM:231670
HP:0001250	Seizure	2074	ERCC6	OMIM:133540
HP:0001250	Seizure	2074	ERCC6	ORPHA:1466
HP:0001250	Seizure	2074	ERCC6	ORPHA:90324
HP:0001250	Seizure	2074	ERCC6	ORPHA:90321
HP:0001250	Seizure	2074	ERCC6	OMIM:214150
HP:0001250	Seizure	3155	HMGCL	ORPHA:20
HP:0001250	Seizure	3155	HMGCL	OMIM:246450
HP:0001250	Seizure	6448	SGSH	OMIM:252900
HP:0001250	Seizure	8925	HERC1	OMIM:617011
HP:0001250	Seizure	1281	COL3A1	OMIM:618343
HP:0001250	Seizure	1281	COL3A1	ORPHA:231160
HP:0001250	Seizure	10564	ARFGEF2	OMIM:608097
HP:0001250	Seizure	55746	NUP133	OMIM:618349
HP:0001250	Seizure	55746	NUP133	ORPHA:2065
HP:0001250	Seizure	51259	TMEM216	OMIM:608091
HP:0001250	Seizure	51259	TMEM216	ORPHA:2318
HP:0001250	Seizure	51259	TMEM216	ORPHA:2754
HP:0001250	Seizure	7681	MKRN3	OMIM:176270
HP:0001250	Seizure	3653	IPW	OMIM:176270
HP:0001250	Seizure	54551	MAGEL2	OMIM:176270
HP:0001250	Seizure	54551	MAGEL2	ORPHA:398069
HP:0001250	Seizure	54551	MAGEL2	ORPHA:177904
HP:0001250	Seizure	54551	MAGEL2	ORPHA:177901
HP:0001250	Seizure	54551	MAGEL2	OMIM:615547
HP:0001250	Seizure	54551	MAGEL2	ORPHA:98754
HP:0001250	Seizure	791114	PWRN1	OMIM:176270
HP:0001250	Seizure	100033413	SNORD116-1	OMIM:176270
HP:0001250	Seizure	145624	PWAR1	OMIM:176270
HP:0001250	Seizure	23742	NPAP1	OMIM:176270
HP:0001250	Seizure	338433	SNORD115-1	OMIM:176270
HP:0001250	Seizure	1950	EGF	OMIM:611718
HP:0001250	Seizure	56945	MRPS22	OMIM:611719
HP:0001250	Seizure	5575	PRKAR1B	OMIM:619680
HP:0001250	Seizure	3028	HSD17B10	ORPHA:391457
HP:0001250	Seizure	3028	HSD17B10	ORPHA:391428
HP:0001250	Seizure	3028	HSD17B10	OMIM:300438
HP:0001250	Seizure	10733	PLK4	OMIM:616171
HP:0001250	Seizure	10733	PLK4	ORPHA:2518
HP:0001250	Seizure	3712	IVD	ORPHA:33
HP:0001250	Seizure	3712	IVD	OMIM:243500
HP:0001250	Seizure	23395	LARS2	OMIM:617021
HP:0001250	Seizure	23114	NFASC	OMIM:618356
HP:0001250	Seizure	55182	RNF220	OMIM:619688
HP:0001250	Seizure	6492	SIM1	ORPHA:398079
HP:0001250	Seizure	51114	ZDHHC9	ORPHA:776
HP:0001250	Seizure	65109	UPF3B	ORPHA:776
HP:0001250	Seizure	9968	MED12	ORPHA:776
HP:0001250	Seizure	9968	MED12	OMIM:309520
HP:0001250	Seizure	9968	MED12	OMIM:300895
HP:0001250	Seizure	9968	MED12	ORPHA:93932
HP:0001250	Seizure	9968	MED12	OMIM:305450
HP:0001250	Seizure	346171	ZFP57	ORPHA:99886
HP:0001250	Seizure	801	CALM1	ORPHA:101016
HP:0001250	Seizure	3753	KCNE1	ORPHA:101016
HP:0001250	Seizure	3753	KCNE1	ORPHA:90647
HP:0001250	Seizure	3762	KCNJ5	ORPHA:101016
HP:0001250	Seizure	3762	KCNJ5	ORPHA:37553
HP:0001250	Seizure	805	CALM2	ORPHA:101016
HP:0001250	Seizure	805	CALM2	OMIM:616249
HP:0001250	Seizure	6910	TBX5	ORPHA:101016
HP:0001250	Seizure	6336	SCN10A	ORPHA:101016
HP:0001250	Seizure	6336	SCN10A	ORPHA:46348
HP:0001250	Seizure	3757	KCNH2	ORPHA:101016
HP:0001250	Seizure	9992	KCNE2	ORPHA:101016
HP:0001250	Seizure	10142	AKAP9	ORPHA:101016
HP:0001250	Seizure	9722	NOS1AP	ORPHA:101016
HP:0001250	Seizure	3784	KCNQ1	ORPHA:101016
HP:0001250	Seizure	3784	KCNQ1	ORPHA:90647
HP:0001250	Seizure	10345	TRDN	ORPHA:101016
HP:0001250	Seizure	10345	TRDN	OMIM:604772
HP:0001250	Seizure	6331	SCN5A	ORPHA:101016
HP:0001250	Seizure	6330	SCN4B	ORPHA:101016
HP:0001250	Seizure	808	CALM3	ORPHA:101016
HP:0001250	Seizure	6640	SNTA1	ORPHA:101016
HP:0001250	Seizure	859	CAV3	ORPHA:101016
HP:0001250	Seizure	287	ANK2	ORPHA:101016
HP:0001250	Seizure	79709	COLGALT1	OMIM:618360
HP:0001250	Seizure	473	RERE	ORPHA:494344
HP:0001250	Seizure	473	RERE	OMIM:616975
HP:0001250	Seizure	473	RERE	ORPHA:1606
HP:0001250	Seizure	486	FXYD2	OMIM:154020
HP:0001250	Seizure	84340	GFM2	ORPHA:565624
HP:0001250	Seizure	10588	MTHFS	OMIM:618367
HP:0001250	Seizure	24140	FTSJ1	OMIM:309549
HP:0001250	Seizure	6601	SMARCC2	OMIM:618362
HP:0001250	Seizure	6601	SMARCC2	ORPHA:1465
HP:0001250	Seizure	92255	LMBRD2	OMIM:619694
HP:0001250	Seizure	7157	TP53	OMIM:260500
HP:0001250	Seizure	7157	TP53	ORPHA:2807
HP:0001250	Seizure	3054	HCFC1	OMIM:309541
HP:0001250	Seizure	201163	FLCN	OMIM:610883
HP:0001250	Seizure	1201	CLN3	ORPHA:228346
HP:0001250	Seizure	1201	CLN3	OMIM:204200
HP:0001250	Seizure	819	CAMLG	OMIM:620201
HP:0001250	Seizure	2717	GLA	ORPHA:324
HP:0001250	Seizure	2717	GLA	OMIM:301500
HP:0001250	Seizure	25778	DSTYK	ORPHA:101003
HP:0001250	Seizure	5805	PTS	ORPHA:13
HP:0001250	Seizure	5805	PTS	OMIM:261640
HP:0001250	Seizure	2743	GLRB	ORPHA:3197
HP:0001250	Seizure	84896	ATAD1	ORPHA:3197
HP:0001250	Seizure	84896	ATAD1	OMIM:618011
HP:0001250	Seizure	9152	SLC6A5	ORPHA:3197
HP:0001250	Seizure	11342	RNF13	OMIM:618379
HP:0001250	Seizure	11342	RNF13	ORPHA:544503
HP:0001250	Seizure	8802	SUCLG1	ORPHA:17
HP:0001250	Seizure	84705	GTPBP3	OMIM:616198
HP:0001250	Seizure	84705	GTPBP3	ORPHA:444013
HP:0001250	Seizure	220296	HEPACAM	OMIM:613925
HP:0001250	Seizure	220296	HEPACAM	OMIM:613926
HP:0001250	Seizure	220296	HEPACAM	OMIM:604004
HP:0001250	Seizure	8883	NAE1	OMIM:620210
HP:0001250	Seizure	4763	NF1	ORPHA:97685
HP:0001250	Seizure	4763	NF1	ORPHA:139474
HP:0001250	Seizure	4763	NF1	ORPHA:363700
HP:0001250	Seizure	4763	NF1	OMIM:162200
HP:0001250	Seizure	83480	PUS3	OMIM:617051
HP:0001250	Seizure	83480	PUS3	ORPHA:488627
HP:0001250	Seizure	9197	SLC33A1	ORPHA:171863
HP:0001250	Seizure	9197	SLC33A1	OMIM:614482
HP:0001250	Seizure	4158	MC2R	OMIM:202200
HP:0001250	Seizure	54809	SAMD9	OMIM:617053
HP:0001250	Seizure	435	ASL	OMIM:207900
HP:0001250	Seizure	8452	CUL3	OMIM:619239
HP:0001250	Seizure	3032	HADHB	ORPHA:746
HP:0001250	Seizure	3030	HADHA	ORPHA:746
HP:0001250	Seizure	3030	HADHA	ORPHA:5
HP:0001250	Seizure	2218	FKTN	OMIM:253800
HP:0001250	Seizure	2218	FKTN	ORPHA:272
HP:0001250	Seizure	2218	FKTN	ORPHA:588
HP:0001250	Seizure	2218	FKTN	OMIM:236670
HP:0001250	Seizure	2218	FKTN	ORPHA:899
HP:0001250	Seizure	80184	CEP290	OMIM:611755
HP:0001250	Seizure	80184	CEP290	ORPHA:65
HP:0001250	Seizure	80184	CEP290	ORPHA:2318
HP:0001250	Seizure	4221	MEN1	ORPHA:97279
HP:0001250	Seizure	4221	MEN1	ORPHA:2965
HP:0001250	Seizure	7528	YY1	ORPHA:97279
HP:0001250	Seizure	207	AKT1	ORPHA:744
HP:0001250	Seizure	207	AKT1	ORPHA:201
HP:0001250	Seizure	207	AKT1	ORPHA:2495
HP:0001250	Seizure	207	AKT1	OMIM:615109
HP:0001250	Seizure	162417	NAGS	OMIM:237310
HP:0001250	Seizure	162417	NAGS	ORPHA:927
HP:0001250	Seizure	9829	DNAJC6	ORPHA:391411
HP:0001250	Seizure	9829	DNAJC6	OMIM:615528
HP:0001250	Seizure	5420	PODXL	ORPHA:391411
HP:0001250	Seizure	29925	GMPPB	ORPHA:370959
HP:0001250	Seizure	29925	GMPPB	ORPHA:588
HP:0001250	Seizure	29925	GMPPB	ORPHA:363623
HP:0001250	Seizure	29925	GMPPB	OMIM:615350
HP:0001250	Seizure	29925	GMPPB	OMIM:615351
HP:0001250	Seizure	29925	GMPPB	OMIM:615352
HP:0001250	Seizure	79147	FKRP	ORPHA:370959
HP:0001250	Seizure	79147	FKRP	ORPHA:588
HP:0001250	Seizure	79147	FKRP	OMIM:236670
HP:0001250	Seizure	79147	FKRP	ORPHA:899
HP:0001250	Seizure	29954	POMT2	ORPHA:370959
HP:0001250	Seizure	29954	POMT2	ORPHA:588
HP:0001250	Seizure	29954	POMT2	OMIM:236670
HP:0001250	Seizure	29954	POMT2	ORPHA:899
HP:0001250	Seizure	29954	POMT2	OMIM:613150
HP:0001250	Seizure	55624	POMGNT1	ORPHA:370959
HP:0001250	Seizure	55624	POMGNT1	OMIM:253280
HP:0001250	Seizure	55624	POMGNT1	ORPHA:588
HP:0001250	Seizure	55624	POMGNT1	ORPHA:899
HP:0001250	Seizure	10585	POMT1	ORPHA:370959
HP:0001250	Seizure	10585	POMT1	ORPHA:588
HP:0001250	Seizure	10585	POMT1	OMIM:236670
HP:0001250	Seizure	10585	POMT1	ORPHA:899
HP:0001250	Seizure	51360	MBTPS2	OMIM:308205
HP:0001250	Seizure	51360	MBTPS2	ORPHA:659
HP:0001250	Seizure	51360	MBTPS2	ORPHA:2273
HP:0001250	Seizure	7204	TRIO	OMIM:617061
HP:0001250	Seizure	7204	TRIO	ORPHA:476126
HP:0001250	Seizure	7204	TRIO	OMIM:618825
HP:0001250	Seizure	60558	GUF1	OMIM:617065
HP:0001250	Seizure	57477	SHROOM4	ORPHA:85288
HP:0001250	Seizure	9326	ZNHIT3	OMIM:260565
HP:0001250	Seizure	9326	ZNHIT3	ORPHA:2836
HP:0001250	Seizure	55640	FLVCR2	OMIM:225790
HP:0001250	Seizure	23112	TNRC6B	OMIM:619243
HP:0001250	Seizure	91875	TTC5	OMIM:619244
HP:0001250	Seizure	23096	IQSEC2	OMIM:309530
HP:0001250	Seizure	23096	IQSEC2	ORPHA:819
HP:0001250	Seizure	23096	IQSEC2	ORPHA:397933
HP:0001250	Seizure	23096	IQSEC2	ORPHA:217377
HP:0001250	Seizure	8450	CUL4B	ORPHA:85293
HP:0001250	Seizure	8450	CUL4B	OMIM:300354
HP:0001250	Seizure	6853	SYN1	ORPHA:85294
HP:0001250	Seizure	6853	SYN1	OMIM:300491
HP:0001250	Seizure	84919	PPP1R15B	ORPHA:391408
HP:0001250	Seizure	84919	PPP1R15B	OMIM:616817
HP:0001250	Seizure	2799	GNS	OMIM:252940
HP:0001250	Seizure	55670	PEX26	ORPHA:772
HP:0001250	Seizure	55670	PEX26	ORPHA:44
HP:0001250	Seizure	55670	PEX26	OMIM:614872
HP:0001250	Seizure	55670	PEX26	ORPHA:912
HP:0001250	Seizure	5824	PEX19	ORPHA:772
HP:0001250	Seizure	5824	PEX19	ORPHA:44
HP:0001250	Seizure	5824	PEX19	OMIM:614886
HP:0001250	Seizure	5824	PEX19	ORPHA:912
HP:0001250	Seizure	5828	PEX2	ORPHA:772
HP:0001250	Seizure	5828	PEX2	ORPHA:44
HP:0001250	Seizure	5828	PEX2	OMIM:614866
HP:0001250	Seizure	5828	PEX2	ORPHA:912
HP:0001250	Seizure	9409	PEX16	ORPHA:772
HP:0001250	Seizure	9409	PEX16	ORPHA:44
HP:0001250	Seizure	9409	PEX16	OMIM:614876
HP:0001250	Seizure	9409	PEX16	ORPHA:912
HP:0001250	Seizure	5190	PEX6	ORPHA:772
HP:0001250	Seizure	5190	PEX6	ORPHA:44
HP:0001250	Seizure	5190	PEX6	OMIM:614862
HP:0001250	Seizure	5190	PEX6	OMIM:614863
HP:0001250	Seizure	5190	PEX6	ORPHA:912
HP:0001250	Seizure	8799	PEX11B	ORPHA:772
HP:0001250	Seizure	8799	PEX11B	ORPHA:44
HP:0001250	Seizure	8799	PEX11B	ORPHA:912
HP:0001250	Seizure	5830	PEX5	ORPHA:772
HP:0001250	Seizure	5830	PEX5	ORPHA:44
HP:0001250	Seizure	5830	PEX5	OMIM:214110
HP:0001250	Seizure	5830	PEX5	OMIM:616716
HP:0001250	Seizure	5830	PEX5	OMIM:202370
HP:0001250	Seizure	5830	PEX5	ORPHA:912
HP:0001250	Seizure	5189	PEX1	ORPHA:772
HP:0001250	Seizure	5189	PEX1	ORPHA:44
HP:0001250	Seizure	5189	PEX1	OMIM:214100
HP:0001250	Seizure	5189	PEX1	OMIM:601539
HP:0001250	Seizure	5189	PEX1	ORPHA:912
HP:0001250	Seizure	5193	PEX12	ORPHA:772
HP:0001250	Seizure	5193	PEX12	ORPHA:44
HP:0001250	Seizure	5193	PEX12	OMIM:614859
HP:0001250	Seizure	5193	PEX12	ORPHA:912
HP:0001250	Seizure	5194	PEX13	ORPHA:772
HP:0001250	Seizure	5194	PEX13	ORPHA:44
HP:0001250	Seizure	5194	PEX13	OMIM:614883
HP:0001250	Seizure	5194	PEX13	ORPHA:912
HP:0001250	Seizure	5195	PEX14	ORPHA:772
HP:0001250	Seizure	5195	PEX14	ORPHA:44
HP:0001250	Seizure	5195	PEX14	OMIM:614887
HP:0001250	Seizure	5195	PEX14	ORPHA:912
HP:0001250	Seizure	5192	PEX10	ORPHA:772
HP:0001250	Seizure	5192	PEX10	ORPHA:44
HP:0001250	Seizure	5192	PEX10	OMIM:614870
HP:0001250	Seizure	5192	PEX10	ORPHA:912
HP:0001250	Seizure	2658	GDF2	ORPHA:774
HP:0001250	Seizure	94	ACVRL1	ORPHA:774
HP:0001250	Seizure	94	ACVRL1	OMIM:600376
HP:0001250	Seizure	4089	SMAD4	ORPHA:774
HP:0001250	Seizure	4089	SMAD4	OMIM:139210
HP:0001250	Seizure	2022	ENG	ORPHA:774
HP:0001250	Seizure	2022	ENG	OMIM:187300
HP:0001250	Seizure	2022	ENG	ORPHA:231160
HP:0001250	Seizure	201595	STT3B	ORPHA:370924
HP:0001250	Seizure	201595	STT3B	OMIM:615597
HP:0001250	Seizure	6748	SSR4	ORPHA:370927
HP:0001250	Seizure	6748	SSR4	OMIM:300934
HP:0001250	Seizure	10084	PQBP1	OMIM:309500
HP:0001250	Seizure	10084	PQBP1	ORPHA:93947
HP:0001250	Seizure	8242	KDM5C	ORPHA:85279
HP:0001250	Seizure	8242	KDM5C	OMIM:300534
HP:0001250	Seizure	10273	STUB1	ORPHA:412057
HP:0001250	Seizure	54187	NANS	OMIM:610442
HP:0001250	Seizure	284058	KANSL1	OMIM:610443
HP:0001250	Seizure	284058	KANSL1	ORPHA:363958
HP:0001250	Seizure	284058	KANSL1	ORPHA:363965
HP:0001250	Seizure	1968	EIF2S3	ORPHA:85282
HP:0001250	Seizure	1968	EIF2S3	OMIM:300148
HP:0001250	Seizure	138050	HGSNAT	OMIM:252930
HP:0001250	Seizure	10020	GNE	ORPHA:3166
HP:0001250	Seizure	10020	GNE	OMIM:269921
HP:0001250	Seizure	81615	TMEM163	OMIM:620243
HP:0001250	Seizure	1376	CPT2	ORPHA:228305
HP:0001250	Seizure	1376	CPT2	ORPHA:228308
HP:0001250	Seizure	1376	CPT2	OMIM:600649
HP:0001250	Seizure	1376	CPT2	OMIM:614212
HP:0001250	Seizure	1376	CPT2	OMIM:608836
HP:0001250	Seizure	10079	ATP9A	OMIM:620242
HP:0001250	Seizure	124093	CCDC78	OMIM:614807
HP:0001250	Seizure	5903	RANBP2	OMIM:608033
HP:0001250	Seizure	5903	RANBP2	ORPHA:88619
HP:0001250	Seizure	126129	CPT1C	ORPHA:444099
HP:0001250	Seizure	27445	PCLO	OMIM:608027
HP:0001250	Seizure	1373	CPS1	OMIM:237300
HP:0001250	Seizure	1373	CPS1	ORPHA:147
HP:0001250	Seizure	5696	PSMB8	OMIM:256040
HP:0001250	Seizure	4669	NAGLU	OMIM:252920
HP:0001250	Seizure	2260	FGFR1	ORPHA:3157
HP:0001250	Seizure	2260	FGFR1	ORPHA:2396
HP:0001250	Seizure	2260	FGFR1	OMIM:613001
HP:0001250	Seizure	2260	FGFR1	ORPHA:220386
HP:0001250	Seizure	2260	FGFR1	ORPHA:280200
HP:0001250	Seizure	2260	FGFR1	ORPHA:93924
HP:0001250	Seizure	2260	FGFR1	ORPHA:478
HP:0001250	Seizure	128674	PROKR2	ORPHA:3157
HP:0001250	Seizure	128674	PROKR2	ORPHA:95496
HP:0001250	Seizure	128674	PROKR2	OMIM:244200
HP:0001250	Seizure	128674	PROKR2	ORPHA:478
HP:0001250	Seizure	6657	SOX2	ORPHA:3157
HP:0001250	Seizure	6658	SOX3	ORPHA:3157
HP:0001250	Seizure	9915	ARNT2	ORPHA:3157
HP:0001250	Seizure	8820	HESX1	ORPHA:3157
HP:0001250	Seizure	8820	HESX1	ORPHA:95496
HP:0001250	Seizure	8820	HESX1	ORPHA:95494
HP:0001250	Seizure	8820	HESX1	ORPHA:478
HP:0001250	Seizure	5015	OTX2	ORPHA:3157
HP:0001250	Seizure	5015	OTX2	ORPHA:95494
HP:0001250	Seizure	5015	OTX2	OMIM:610125
HP:0001250	Seizure	5015	OTX2	OMIM:613986
HP:0001250	Seizure	4352	MPL	ORPHA:71493
HP:0001250	Seizure	7066	THPO	ORPHA:71493
HP:0001250	Seizure	3717	JAK2	ORPHA:71493
HP:0001250	Seizure	355	FAS	ORPHA:3261
HP:0001250	Seizure	355	FAS	ORPHA:117
HP:0001250	Seizure	356	FASLG	ORPHA:3261
HP:0001250	Seizure	5580	PRKCD	ORPHA:3261
HP:0001250	Seizure	843	CASP10	ORPHA:3261
HP:0001250	Seizure	10125	RASGRP1	ORPHA:3261
HP:0001250	Seizure	6535	SLC6A8	OMIM:300352
HP:0001250	Seizure	6535	SLC6A8	ORPHA:52503
HP:0001250	Seizure	6309	SC5D	ORPHA:46059
HP:0001250	Seizure	6309	SC5D	OMIM:607330
HP:0001250	Seizure	894	CCND2	ORPHA:83473
HP:0001250	Seizure	5296	PIK3R2	ORPHA:83473
HP:0001250	Seizure	5296	PIK3R2	OMIM:603387
HP:0001250	Seizure	5885	RAD21	OMIM:614701
HP:0001250	Seizure	5885	RAD21	ORPHA:199
HP:0001250	Seizure	1593	CYP27A1	OMIM:213700
HP:0001250	Seizure	1593	CYP27A1	ORPHA:909
HP:0001250	Seizure	25821	MTO1	OMIM:614702
HP:0001250	Seizure	55775	TDP1	ORPHA:94124
HP:0001250	Seizure	55775	TDP1	OMIM:607250
HP:0001250	Seizure	51816	ADA2	ORPHA:820
HP:0001250	Seizure	51816	ADA2	OMIM:182410
HP:0001250	Seizure	80144	FRAS1	OMIM:219000
HP:0001250	Seizure	613	BCR	ORPHA:261330
HP:0001250	Seizure	1399	CRKL	ORPHA:261330
HP:0001250	Seizure	5594	MAPK1	ORPHA:261330
HP:0001250	Seizure	9640	ZNF592	ORPHA:83472
HP:0001250	Seizure	84942	WDR73	ORPHA:83472
HP:0001250	Seizure	84942	WDR73	ORPHA:2065
HP:0001250	Seizure	84942	WDR73	OMIM:251300
HP:0001250	Seizure	224	ALDH3A2	ORPHA:816
HP:0001250	Seizure	224	ALDH3A2	OMIM:270200
HP:0001250	Seizure	2314	FLII	ORPHA:819
HP:0001250	Seizure	10743	RAI1	ORPHA:819
HP:0001250	Seizure	10743	RAI1	OMIM:182290
HP:0001250	Seizure	1717	DHCR7	ORPHA:818
HP:0001250	Seizure	1717	DHCR7	OMIM:270400
HP:0001250	Seizure	5818	NECTIN1	ORPHA:3253
HP:0001250	Seizure	55780	ERMARD	ORPHA:75857
HP:0001250	Seizure	55780	ERMARD	OMIM:615544
HP:0001250	Seizure	150468	CKAP2L	ORPHA:3255
HP:0001250	Seizure	150468	CKAP2L	OMIM:272440
HP:0001250	Seizure	5979	RET	ORPHA:99803
HP:0001250	Seizure	429	ASCL1	ORPHA:99803
HP:0001250	Seizure	8929	PHOX2B	ORPHA:99803
HP:0001250	Seizure	8929	PHOX2B	ORPHA:661
HP:0001250	Seizure	8929	PHOX2B	ORPHA:2151
HP:0001250	Seizure	26153	KIF26A	OMIM:620156
HP:0001250	Seizure	58528	RRAGD	OMIM:620152
HP:0001250	Seizure	1185	CLCN6	OMIM:619173
HP:0001250	Seizure	56992	KIF15	ORPHA:261323
HP:0001250	Seizure	4718	NDUFC2	OMIM:619170
HP:0001250	Seizure	2483	FRG1	OMIM:158900
HP:0001250	Seizure	1738	DLD	ORPHA:2394
HP:0001250	Seizure	1738	DLD	OMIM:246900
HP:0001250	Seizure	55157	DARS2	ORPHA:137898
HP:0001250	Seizure	412	STS	ORPHA:281090
HP:0001250	Seizure	3845	KRAS	ORPHA:2396
HP:0001250	Seizure	3845	KRAS	ORPHA:144
HP:0001250	Seizure	3845	KRAS	OMIM:163200
HP:0001250	Seizure	3845	KRAS	ORPHA:2612
HP:0001250	Seizure	3845	KRAS	OMIM:600268
HP:0001250	Seizure	55858	TMEM165	OMIM:614727
HP:0001250	Seizure	64087	MCCC2	OMIM:210210
HP:0001250	Seizure	546	ATRX	ORPHA:847
HP:0001250	Seizure	546	ATRX	OMIM:309580
HP:0001250	Seizure	546	ATRX	OMIM:301040
HP:0001250	Seizure	54675	CRLS1	OMIM:620167
HP:0001250	Seizure	9184	BUB3	ORPHA:1052
HP:0001250	Seizure	699	BUB1	ORPHA:1052
HP:0001250	Seizure	9702	CEP57	ORPHA:1052
HP:0001250	Seizure	9319	TRIP13	ORPHA:1052
HP:0001250	Seizure	9319	TRIP13	OMIM:617598
HP:0001250	Seizure	23036	ZNF292	OMIM:619188
HP:0001250	Seizure	55148	UBR7	OMIM:619189
HP:0001250	Seizure	23230	VPS13A	ORPHA:2388
HP:0001250	Seizure	23230	VPS13A	OMIM:200150
HP:0001250	Seizure	56922	MCCC1	OMIM:210200
HP:0001250	Seizure	54872	PIGG	OMIM:616917
HP:0001250	Seizure	54872	PIGG	ORPHA:280
HP:0001250	Seizure	54872	PIGG	ORPHA:488635
HP:0001250	Seizure	25942	SIN3A	OMIM:613406
HP:0001250	Seizure	25942	SIN3A	ORPHA:500166
HP:0001250	Seizure	175	AGA	ORPHA:93
HP:0001250	Seizure	175	AGA	OMIM:208400
HP:0001250	Seizure	53834	FGFRL1	OMIM:194190
HP:0001250	Seizure	1487	CTBP1	OMIM:194190
HP:0001250	Seizure	1487	CTBP1	ORPHA:280
HP:0001250	Seizure	3954	LETM1	OMIM:194190
HP:0001250	Seizure	3954	LETM1	ORPHA:280
HP:0001250	Seizure	3954	LETM1	OMIM:620089
HP:0001250	Seizure	7468	NSD2	OMIM:194190
HP:0001250	Seizure	7468	NSD2	ORPHA:280
HP:0001250	Seizure	84947	SERAC1	OMIM:614739
HP:0001250	Seizure	23530	NNT	OMIM:614736
HP:0001250	Seizure	383	ARG1	ORPHA:90
HP:0001250	Seizure	383	ARG1	OMIM:207800
HP:0001250	Seizure	3769	KCNJ13	ORPHA:65
HP:0001250	Seizure	343035	RD3	ORPHA:65
HP:0001250	Seizure	145226	RDH12	ORPHA:65
HP:0001250	Seizure	1406	CRX	ORPHA:65
HP:0001250	Seizure	64802	NMNAT1	ORPHA:65
HP:0001250	Seizure	57096	RPGRIP1	ORPHA:65
HP:0001250	Seizure	10383	TUBB4B	ORPHA:65
HP:0001250	Seizure	9742	IFT140	ORPHA:65
HP:0001250	Seizure	9742	IFT140	OMIM:266920
HP:0001250	Seizure	85015	USP45	ORPHA:65
HP:0001250	Seizure	6121	RPE65	ORPHA:65
HP:0001250	Seizure	23418	CRB1	ORPHA:65
HP:0001250	Seizure	5130	PCYT1A	ORPHA:65
HP:0001250	Seizure	9657	IQCB1	ORPHA:65
HP:0001250	Seizure	392255	GDF6	ORPHA:65
HP:0001250	Seizure	23746	AIPL1	ORPHA:65
HP:0001250	Seizure	3000	GUCY2D	ORPHA:65
HP:0001250	Seizure	9227	LRAT	ORPHA:65
HP:0001250	Seizure	55812	SPATA7	ORPHA:65
HP:0001250	Seizure	7287	TULP1	ORPHA:65
HP:0001250	Seizure	167691	LCA5	ORPHA:65
HP:0001250	Seizure	3614	IMPDH1	ORPHA:65
HP:0001250	Seizure	7025	NR2F1	ORPHA:401777
HP:0001250	Seizure	56006	SMG9	OMIM:616920
HP:0001250	Seizure	51660	MPC1	OMIM:614741
HP:0001250	Seizure	116442	RAB39B	ORPHA:2379
HP:0001250	Seizure	116442	RAB39B	OMIM:311510
HP:0001250	Seizure	116442	RAB39B	OMIM:300271
HP:0001250	Seizure	91754	NEK9	ORPHA:64754
HP:0001250	Seizure	10846	PDE10A	OMIM:616921
HP:0001250	Seizure	84720	PIGO	OMIM:614749
HP:0001250	Seizure	84720	PIGO	ORPHA:247262
HP:0001250	Seizure	89884	LHX4	ORPHA:95496
HP:0001250	Seizure	89884	LHX4	ORPHA:95494
HP:0001250	Seizure	6091	ROBO1	ORPHA:95496
HP:0001250	Seizure	50937	CDON	ORPHA:95496
HP:0001250	Seizure	50937	CDON	ORPHA:220386
HP:0001250	Seizure	50937	CDON	ORPHA:280200
HP:0001250	Seizure	50937	CDON	ORPHA:93926
HP:0001250	Seizure	50937	CDON	ORPHA:93924
HP:0001250	Seizure	50937	CDON	ORPHA:93925
HP:0001250	Seizure	23432	GPR161	ORPHA:95496
HP:0001250	Seizure	23137	SMC5	OMIM:620185
HP:0001250	Seizure	79759	ZNF668	OMIM:620194
HP:0001250	Seizure	3251	HPRT1	OMIM:300322
HP:0001250	Seizure	3251	HPRT1	ORPHA:79233
HP:0001250	Seizure	5626	PROP1	ORPHA:95494
HP:0001250	Seizure	5626	PROP1	OMIM:262600
HP:0001250	Seizure	3170	FOXA2	ORPHA:95494
HP:0001250	Seizure	5449	POU1F1	ORPHA:95494
HP:0001250	Seizure	8050	PDHX	OMIM:245349
HP:0001250	Seizure	8050	PDHX	ORPHA:255182
HP:0001250	Seizure	23522	KAT6B	ORPHA:85201
HP:0001250	Seizure	23522	KAT6B	ORPHA:3047
HP:0001250	Seizure	4256	MGP	ORPHA:85202
HP:0001250	Seizure	4256	MGP	OMIM:245150
HP:0001250	Seizure	23261	CAMTA1	OMIM:614756
HP:0001250	Seizure	2255	FGF10	ORPHA:2363
HP:0001250	Seizure	6605	SMARCE1	OMIM:616938
HP:0001250	Seizure	6605	SMARCE1	ORPHA:1465
HP:0001250	Seizure	6605	SMARCE1	ORPHA:2495
HP:0001250	Seizure	388015	RTL1	ORPHA:96334
HP:0001250	Seizure	8788	DLK1	ORPHA:96334
HP:0001250	Seizure	55384	MEG3	ORPHA:96334
HP:0001250	Seizure	158	ADSL	ORPHA:46
HP:0001250	Seizure	158	ADSL	OMIM:103050
HP:0001250	Seizure	51322	WAC	ORPHA:284169
HP:0001250	Seizure	51322	WAC	OMIM:616708
HP:0001250	Seizure	1013	CDH15	OMIM:612580
HP:0001250	Seizure	10735	STAG2	ORPHA:521258
HP:0001250	Seizure	10735	STAG2	ORPHA:220386
HP:0001250	Seizure	10735	STAG2	ORPHA:93925
HP:0001250	Seizure	10735	STAG2	OMIM:301043
HP:0001250	Seizure	1374	CPT1A	OMIM:255120
HP:0001250	Seizure	1374	CPT1A	ORPHA:156
HP:0001250	Seizure	5663	PSEN1	ORPHA:1020
HP:0001250	Seizure	5663	PSEN1	OMIM:607822
HP:0001250	Seizure	5664	PSEN2	ORPHA:1020
HP:0001250	Seizure	10452	TOMM40	ORPHA:1020
HP:0001250	Seizure	54209	TREM2	ORPHA:1020
HP:0001250	Seizure	54209	TREM2	ORPHA:2770
HP:0001250	Seizure	54209	TREM2	OMIM:618193
HP:0001250	Seizure	10347	ABCA7	ORPHA:1020
HP:0001250	Seizure	6653	SORL1	ORPHA:1020
HP:0001250	Seizure	147372	CCBE1	OMIM:235510
HP:0001250	Seizure	147372	CCBE1	ORPHA:2136
HP:0001250	Seizure	2776	GNAQ	ORPHA:3205
HP:0001250	Seizure	2776	GNAQ	ORPHA:624
HP:0001250	Seizure	2776	GNAQ	OMIM:185300
HP:0001250	Seizure	6567	SLC16A2	ORPHA:59
HP:0001250	Seizure	3897	L1CAM	ORPHA:1497
HP:0001250	Seizure	3897	L1CAM	OMIM:304100
HP:0001250	Seizure	3897	L1CAM	ORPHA:2182
HP:0001250	Seizure	22907	DHX30	OMIM:617804
HP:0001250	Seizure	9990	SLC12A6	ORPHA:1496
HP:0001250	Seizure	9990	SLC12A6	OMIM:620068
HP:0001250	Seizure	9990	SLC12A6	OMIM:218000
HP:0001250	Seizure	9894	TELO2	OMIM:616954
HP:0001250	Seizure	9894	TELO2	ORPHA:488642
HP:0001250	Seizure	57724	EPG5	ORPHA:1493
HP:0001250	Seizure	57724	EPG5	OMIM:242840
HP:0001250	Seizure	196528	ARID2	OMIM:617808
HP:0001250	Seizure	196528	ARID2	ORPHA:1465
HP:0001250	Seizure	10535	RNASEH2A	ORPHA:51
HP:0001250	Seizure	10535	RNASEH2A	OMIM:610333
HP:0001250	Seizure	84153	RNASEH2C	ORPHA:51
HP:0001250	Seizure	25939	SAMHD1	ORPHA:51
HP:0001250	Seizure	79621	RNASEH2B	ORPHA:51
HP:0001250	Seizure	103	ADAR	ORPHA:51
HP:0001250	Seizure	100147744	RNU7-1	ORPHA:51
HP:0001250	Seizure	100147744	RNU7-1	OMIM:619487
HP:0001250	Seizure	134353	LSM11	ORPHA:51
HP:0001250	Seizure	134353	LSM11	OMIM:619486
HP:0001250	Seizure	64135	IFIH1	ORPHA:51
HP:0001250	Seizure	64135	IFIH1	OMIM:615846
HP:0001250	Seizure	56052	ALG1	OMIM:608540
HP:0001250	Seizure	56052	ALG1	ORPHA:79327
HP:0001250	Seizure	55703	POLR3B	OMIM:607694
HP:0001250	Seizure	55703	POLR3B	OMIM:619742
HP:0001250	Seizure	11128	POLR3A	OMIM:607694
HP:0001250	Seizure	11128	POLR3A	ORPHA:3455
HP:0001250	Seizure	10075	HUWE1	OMIM:309590
HP:0001250	Seizure	132	ADK	OMIM:614300
HP:0001250	Seizure	2290	FOXG1	OMIM:613454
HP:0001250	Seizure	2290	FOXG1	ORPHA:261144
HP:0001250	Seizure	79848	CSPP1	OMIM:615636
HP:0001250	Seizure	79848	CSPP1	ORPHA:475
HP:0001250	Seizure	29123	ANKRD11	ORPHA:2332
HP:0001250	Seizure	29123	ANKRD11	ORPHA:261250
HP:0001250	Seizure	29123	ANKRD11	OMIM:148050
HP:0001250	Seizure	9759	HDAC4	ORPHA:1001
HP:0001250	Seizure	9759	HDAC4	OMIM:600430
HP:0001250	Seizure	9759	HDAC4	OMIM:619797
HP:0001250	Seizure	6261	RYR1	ORPHA:466650
HP:0001250	Seizure	50943	FOXP3	OMIM:304790
HP:0001250	Seizure	5279	PIGC	OMIM:617816
HP:0001250	Seizure	91147	TMEM67	OMIM:216360
HP:0001250	Seizure	91147	TMEM67	ORPHA:1454
HP:0001250	Seizure	91147	TMEM67	ORPHA:475
HP:0001250	Seizure	84162	BLTP1	OMIM:617822
HP:0001250	Seizure	3097	HIVEP2	OMIM:616977
HP:0001250	Seizure	6638	SNRPN	ORPHA:177904
HP:0001250	Seizure	6638	SNRPN	ORPHA:177901
HP:0001250	Seizure	6638	SNRPN	ORPHA:177907
HP:0001250	Seizure	6638	SNRPN	ORPHA:411515
HP:0001250	Seizure	6638	SNRPN	OMIM:105830
HP:0001250	Seizure	6638	SNRPN	ORPHA:98754
HP:0001250	Seizure	6638	SNRPN	OMIM:209850
HP:0001250	Seizure	4692	NDN	ORPHA:177904
HP:0001250	Seizure	4692	NDN	ORPHA:177901
HP:0001250	Seizure	4692	NDN	ORPHA:98754
HP:0001250	Seizure	4948	OCA2	ORPHA:177904
HP:0001250	Seizure	4948	OCA2	ORPHA:177901
HP:0001250	Seizure	4948	OCA2	ORPHA:98794
HP:0001250	Seizure	4948	OCA2	ORPHA:98754
HP:0001250	Seizure	2332	FMR1	ORPHA:449291
HP:0001250	Seizure	2332	FMR1	OMIM:300624
HP:0001250	Seizure	2332	FMR1	ORPHA:908
HP:0001250	Seizure	55906	ZC4H2	OMIM:314580
HP:0001250	Seizure	85358	SHANK3	ORPHA:48652
HP:0001250	Seizure	85358	SHANK3	OMIM:606232
HP:0001250	Seizure	10560	SLC19A2	OMIM:249270
HP:0001250	Seizure	2068	ERCC2	ORPHA:1466
HP:0001250	Seizure	2068	ERCC2	ORPHA:910
HP:0001250	Seizure	2067	ERCC1	ORPHA:1466
HP:0001250	Seizure	2073	ERCC5	ORPHA:1466
HP:0001250	Seizure	2073	ERCC5	ORPHA:910
HP:0001250	Seizure	6597	SMARCA4	ORPHA:1465
HP:0001250	Seizure	6597	SMARCA4	OMIM:614609
HP:0001250	Seizure	6598	SMARCB1	ORPHA:1465
HP:0001250	Seizure	6598	SMARCB1	OMIM:614608
HP:0001250	Seizure	6598	SMARCB1	ORPHA:2495
HP:0001250	Seizure	6598	SMARCB1	ORPHA:99966
HP:0001250	Seizure	6659	SOX4	ORPHA:1465
HP:0001250	Seizure	8289	ARID1A	ORPHA:1465
HP:0001250	Seizure	8289	ARID1A	OMIM:614607
HP:0001250	Seizure	5977	DPF2	ORPHA:1465
HP:0001250	Seizure	6602	SMARCD1	ORPHA:1465
HP:0001250	Seizure	57492	ARID1B	ORPHA:1465
HP:0001250	Seizure	57492	ARID1B	ORPHA:251056
HP:0001250	Seizure	57492	ARID1B	OMIM:135900
HP:0001250	Seizure	6664	SOX11	ORPHA:1465
HP:0001250	Seizure	6709	SPTAN1	OMIM:613477
HP:0001250	Seizure	4358	MPV17	OMIM:256810
HP:0001250	Seizure	6663	SOX10	ORPHA:163746
HP:0001250	Seizure	6663	SOX10	OMIM:609136
HP:0001250	Seizure	6663	SOX10	ORPHA:478
HP:0001250	Seizure	2911	GRM1	ORPHA:324262
HP:0001250	Seizure	2911	GRM1	OMIM:614831
HP:0001250	Seizure	79583	TMEM231	ORPHA:2318
HP:0001250	Seizure	51524	TMEM138	ORPHA:2318
HP:0001250	Seizure	23090	ZNF423	ORPHA:2318
HP:0001250	Seizure	57545	CC2D2A	ORPHA:2318
HP:0001250	Seizure	57545	CC2D2A	ORPHA:1454
HP:0001250	Seizure	57545	CC2D2A	OMIM:612285
HP:0001250	Seizure	545	ATR	OMIM:210600
HP:0001250	Seizure	25839	COG4	OMIM:613489
HP:0001250	Seizure	2313	FLI1	ORPHA:2308
HP:0001250	Seizure	2313	FLI1	ORPHA:370348
HP:0001250	Seizure	7305	TYROBP	ORPHA:2770
HP:0001250	Seizure	7305	TYROBP	OMIM:221770
HP:0001250	Seizure	8936	WASF1	OMIM:618707
HP:0001250	Seizure	11235	PDCD10	OMIM:603285
HP:0001250	Seizure	11235	PDCD10	ORPHA:221061
HP:0001250	Seizure	6697	SPR	ORPHA:70594
HP:0001250	Seizure	6697	SPR	OMIM:612716
HP:0001250	Seizure	28514	DLL1	OMIM:618709
HP:0001250	Seizure	28514	DLL1	ORPHA:220386
HP:0001250	Seizure	28514	DLL1	ORPHA:280200
HP:0001250	Seizure	28514	DLL1	ORPHA:93926
HP:0001250	Seizure	28514	DLL1	ORPHA:93924
HP:0001250	Seizure	28514	DLL1	ORPHA:93925
HP:0001250	Seizure	83605	CCM2	OMIM:603284
HP:0001250	Seizure	83605	CCM2	ORPHA:221061
HP:0001250	Seizure	23556	PIGN	ORPHA:280633
HP:0001250	Seizure	23556	PIGN	ORPHA:2059
HP:0001250	Seizure	23556	PIGN	OMIM:614080
HP:0001250	Seizure	3661	IRF3	OMIM:616532
HP:0001250	Seizure	60482	SLC5A7	ORPHA:98914
HP:0001250	Seizure	4649	MYO9A	ORPHA:98914
HP:0001250	Seizure	1305	COL13A1	ORPHA:98914
HP:0001250	Seizure	1103	CHAT	ORPHA:98914
HP:0001250	Seizure	6576	SLC25A1	ORPHA:98914
HP:0001250	Seizure	6576	SLC25A1	OMIM:615182
HP:0001250	Seizure	6843	VAMP1	ORPHA:98914
HP:0001250	Seizure	6843	VAMP1	ORPHA:251282
HP:0001250	Seizure	375790	AGRN	ORPHA:98914
HP:0001250	Seizure	127833	SYT2	ORPHA:98914
HP:0001250	Seizure	6572	SLC18A3	ORPHA:98914
HP:0001250	Seizure	6616	SNAP25	ORPHA:98914
HP:0001250	Seizure	84628	NTNG2	OMIM:618718
HP:0001250	Seizure	5456	POU3F4	ORPHA:1435
HP:0001250	Seizure	139285	AMER1	OMIM:300373
HP:0001250	Seizure	51	ACOX1	OMIM:264470
HP:0001250	Seizure	51	ACOX1	ORPHA:2971
HP:0001250	Seizure	51	ACOX1	OMIM:618960
HP:0001250	Seizure	10577	NPC2	OMIM:607625
HP:0001250	Seizure	5873	RAB27A	OMIM:607624
HP:0001250	Seizure	5873	RAB27A	ORPHA:79477
HP:0001250	Seizure	51317	PHF21A	OMIM:618725
HP:0001250	Seizure	51317	PHF21A	ORPHA:52022
HP:0001250	Seizure	2253	FGF8	ORPHA:220386
HP:0001250	Seizure	2253	FGF8	ORPHA:280200
HP:0001250	Seizure	2253	FGF8	ORPHA:93926
HP:0001250	Seizure	2253	FGF8	ORPHA:93924
HP:0001250	Seizure	2253	FGF8	ORPHA:93925
HP:0001250	Seizure	2253	FGF8	ORPHA:478
HP:0001250	Seizure	6496	SIX3	ORPHA:220386
HP:0001250	Seizure	6496	SIX3	OMIM:157170
HP:0001250	Seizure	6496	SIX3	ORPHA:280200
HP:0001250	Seizure	6496	SIX3	ORPHA:93926
HP:0001250	Seizure	6496	SIX3	ORPHA:93924
HP:0001250	Seizure	6496	SIX3	ORPHA:93925
HP:0001250	Seizure	7050	TGIF1	ORPHA:220386
HP:0001250	Seizure	7050	TGIF1	ORPHA:280200
HP:0001250	Seizure	7050	TGIF1	ORPHA:93926
HP:0001250	Seizure	7050	TGIF1	ORPHA:93924
HP:0001250	Seizure	7050	TGIF1	ORPHA:93925
HP:0001250	Seizure	4838	NODAL	ORPHA:220386
HP:0001250	Seizure	4838	NODAL	ORPHA:280200
HP:0001250	Seizure	4838	NODAL	ORPHA:93926
HP:0001250	Seizure	4838	NODAL	ORPHA:93924
HP:0001250	Seizure	4838	NODAL	ORPHA:93925
HP:0001250	Seizure	6469	SHH	ORPHA:220386
HP:0001250	Seizure	6469	SHH	ORPHA:280200
HP:0001250	Seizure	6469	SHH	ORPHA:93926
HP:0001250	Seizure	6469	SHH	ORPHA:93924
HP:0001250	Seizure	6469	SHH	ORPHA:93925
HP:0001250	Seizure	7546	ZIC2	ORPHA:220386
HP:0001250	Seizure	7546	ZIC2	ORPHA:280200
HP:0001250	Seizure	7546	ZIC2	ORPHA:93926
HP:0001250	Seizure	7546	ZIC2	ORPHA:93924
HP:0001250	Seizure	7546	ZIC2	ORPHA:93925
HP:0001250	Seizure	7546	ZIC2	OMIM:609637
HP:0001250	Seizure	6491	STIL	ORPHA:220386
HP:0001250	Seizure	6491	STIL	ORPHA:93926
HP:0001250	Seizure	6491	STIL	ORPHA:93924
HP:0001250	Seizure	6491	STIL	ORPHA:93925
HP:0001250	Seizure	6491	STIL	OMIM:612703
HP:0001250	Seizure	2619	GAS1	ORPHA:220386
HP:0001250	Seizure	2619	GAS1	ORPHA:280200
HP:0001250	Seizure	2619	GAS1	ORPHA:93926
HP:0001250	Seizure	2619	GAS1	ORPHA:93924
HP:0001250	Seizure	2619	GAS1	ORPHA:93925
HP:0001250	Seizure	84976	DISP1	ORPHA:220386
HP:0001250	Seizure	84976	DISP1	ORPHA:280200
HP:0001250	Seizure	84976	DISP1	ORPHA:93926
HP:0001250	Seizure	84976	DISP1	ORPHA:93924
HP:0001250	Seizure	84976	DISP1	ORPHA:93925
HP:0001250	Seizure	8928	FOXH1	ORPHA:220386
HP:0001250	Seizure	8928	FOXH1	ORPHA:280200
HP:0001250	Seizure	8928	FOXH1	ORPHA:93926
HP:0001250	Seizure	8928	FOXH1	ORPHA:93924
HP:0001250	Seizure	8928	FOXH1	ORPHA:93925
HP:0001250	Seizure	2806	GOT2	OMIM:618721
HP:0001250	Seizure	8777	MPDZ	OMIM:615219
HP:0001250	Seizure	8481	OFD1	ORPHA:2750
HP:0001250	Seizure	8481	OFD1	ORPHA:2754
HP:0001250	Seizure	8481	OFD1	OMIM:311200
HP:0001250	Seizure	10210	TOPORS	ORPHA:2754
HP:0001250	Seizure	9851	KIAA0753	ORPHA:2754
HP:0001250	Seizure	26123	TCTN3	ORPHA:2754
HP:0001250	Seizure	5147	PDE6D	ORPHA:2754
HP:0001250	Seizure	65250	CPLANE1	ORPHA:2754
HP:0001250	Seizure	65250	CPLANE1	ORPHA:475
HP:0001250	Seizure	374654	KIF7	ORPHA:2754
HP:0001250	Seizure	374654	KIF7	OMIM:200990
HP:0001250	Seizure	51075	TMX2	OMIM:618730
HP:0001250	Seizure	57647	DHX37	OMIM:618731
HP:0001250	Seizure	64221	ROBO3	ORPHA:2744
HP:0001250	Seizure	1630	DCC	ORPHA:2744
HP:0001250	Seizure	1630	DCC	OMIM:617542
HP:0001250	Seizure	1630	DCC	ORPHA:478
HP:0001250	Seizure	80169	CTC1	OMIM:612199
HP:0001250	Seizure	51763	INPP5K	OMIM:617404
HP:0001250	Seizure	2212	FCGR2A	OMIM:152700
HP:0001250	Seizure	2213	FCGR2B	OMIM:152700
HP:0001250	Seizure	26191	PTPN22	OMIM:152700
HP:0001250	Seizure	26191	PTPN22	ORPHA:900
HP:0001250	Seizure	1493	CTLA4	OMIM:152700
HP:0001250	Seizure	1493	CTLA4	ORPHA:900
HP:0001250	Seizure	1773	DNASE1	OMIM:152700
HP:0001250	Seizure	498	ATP5F1A	OMIM:615228
HP:0001250	Seizure	498	ATP5F1A	OMIM:616045
HP:0001250	Seizure	57194	ATP10A	ORPHA:411515
HP:0001250	Seizure	4982	TNFRSF11B	ORPHA:1416
HP:0001250	Seizure	56172	ANKH	ORPHA:1416
HP:0001250	Seizure	3759	KCNJ2	ORPHA:37553
HP:0001250	Seizure	85465	SELENOI	ORPHA:506353
HP:0001250	Seizure	2811	GP1BA	ORPHA:274
HP:0001250	Seizure	2812	GP1BB	ORPHA:274
HP:0001250	Seizure	2812	GP1BB	ORPHA:567
HP:0001250	Seizure	2815	GP9	ORPHA:274
HP:0001250	Seizure	10617	STAMBP	OMIM:614261
HP:0001250	Seizure	8367	H4C5	OMIM:619950
HP:0001250	Seizure	229	ALDOB	OMIM:229600
HP:0001250	Seizure	229	ALDOB	ORPHA:469
HP:0001250	Seizure	3703	STT3A	OMIM:615596
HP:0001250	Seizure	3703	STT3A	ORPHA:370921
HP:0001250	Seizure	55627	SMPD4	OMIM:618622
HP:0001250	Seizure	23417	MLYCD	OMIM:248360
HP:0001250	Seizure	81857	MED25	OMIM:616449
HP:0001250	Seizure	81857	MED25	ORPHA:464738
HP:0001250	Seizure	5361	PLXNA1	OMIM:619955
HP:0001250	Seizure	4693	NDP	OMIM:310600
HP:0001250	Seizure	4693	NDP	ORPHA:649
HP:0001250	Seizure	4047	LSS	ORPHA:2850
HP:0001250	Seizure	4047	LSS	OMIM:618840
HP:0001250	Seizure	197	AHSG	ORPHA:2850
HP:0001250	Seizure	3694	ITGB6	ORPHA:2850
HP:0001250	Seizure	2072	ERCC4	ORPHA:90321
HP:0001250	Seizure	2072	ERCC4	ORPHA:910
HP:0001250	Seizure	3190	HNRNPK	ORPHA:453504
HP:0001250	Seizure	3190	HNRNPK	ORPHA:352665
HP:0001250	Seizure	3074	HEXB	ORPHA:309162
HP:0001250	Seizure	3074	HEXB	ORPHA:309155
HP:0001250	Seizure	4522	MTHFD1	OMIM:617780
HP:0001250	Seizure	6855	SYP	OMIM:300802
HP:0001250	Seizure	55689	YEATS2	OMIM:615127
HP:0001250	Seizure	2670	GFAP	OMIM:203450
HP:0001250	Seizure	2670	GFAP	ORPHA:363717
HP:0001250	Seizure	80155	NAA15	OMIM:617787
HP:0001250	Seizure	10730	YME1L1	OMIM:617302
HP:0001250	Seizure	128486	FITM2	OMIM:618635
HP:0001250	Seizure	28960	DCPS	OMIM:616459
HP:0001250	Seizure	57231	SNX14	ORPHA:397709
HP:0001250	Seizure	57231	SNX14	OMIM:616354
HP:0001250	Seizure	23474	ETHE1	ORPHA:51188
HP:0001250	Seizure	23474	ETHE1	OMIM:602473
HP:0001250	Seizure	51684	SUFU	ORPHA:280200
HP:0001250	Seizure	51684	SUFU	ORPHA:2495
HP:0001250	Seizure	51684	SUFU	ORPHA:475
HP:0001250	Seizure	10559	SLC35A1	OMIM:603585
HP:0001250	Seizure	55870	ASH1L	OMIM:617796
HP:0001250	Seizure	91869	RFT1	ORPHA:244310
HP:0001250	Seizure	91869	RFT1	OMIM:612015
HP:0001250	Seizure	547	KIF1A	ORPHA:2836
HP:0001250	Seizure	547	KIF1A	OMIM:614255
HP:0001250	Seizure	5155	PDGFB	ORPHA:1980
HP:0001250	Seizure	5155	PDGFB	OMIM:213600
HP:0001250	Seizure	5155	PDGFB	ORPHA:2495
HP:0001250	Seizure	9213	XPR1	ORPHA:1980
HP:0001250	Seizure	9213	XPR1	OMIM:616413
HP:0001250	Seizure	5159	PDGFRB	ORPHA:1980
HP:0001250	Seizure	5159	PDGFRB	OMIM:213600
HP:0001250	Seizure	57462	MYORG	ORPHA:1980
HP:0001250	Seizure	6575	SLC20A2	ORPHA:1980
HP:0001250	Seizure	6575	SLC20A2	OMIM:213600
HP:0001250	Seizure	58494	JAM2	ORPHA:1980
HP:0001250	Seizure	58494	JAM2	OMIM:618824
HP:0001250	Seizure	2626	GATA4	ORPHA:251071
HP:0001250	Seizure	7469	NELFA	ORPHA:280
HP:0001250	Seizure	22884	WDR37	OMIM:618652
HP:0001250	Seizure	57178	ZMIZ1	OMIM:618659
HP:0001250	Seizure	80208	SPG11	ORPHA:2822
HP:0001250	Seizure	388962	BOLA3	OMIM:614299
HP:0001250	Seizure	26057	ANKRD17	OMIM:619504
HP:0001250	Seizure	8241	RBM10	OMIM:311900
HP:0001250	Seizure	8241	RBM10	ORPHA:2886
HP:0001250	Seizure	57167	SALL4	ORPHA:233
HP:0001250	Seizure	9935	MAFB	ORPHA:233
HP:0001250	Seizure	1123	CHN1	ORPHA:233
HP:0001250	Seizure	3981	LIG4	ORPHA:235
HP:0001250	Seizure	54888	NSUN2	ORPHA:235
HP:0001250	Seizure	54888	NSUN2	OMIM:611091
HP:0001250	Seizure	51594	NBAS	OMIM:616483
HP:0001250	Seizure	253738	EBF3	OMIM:617330
HP:0001250	Seizure	29081	METTL5	OMIM:618665
HP:0001250	Seizure	84879	MFSD2A	OMIM:616486
HP:0001250	Seizure	7862	BRPF1	OMIM:617333
HP:0001250	Seizure	131405	TRIM71	OMIM:618667
HP:0001250	Seizure	286	ANK1	ORPHA:251066
HP:0001250	Seizure	166785	MMAA	OMIM:251100
HP:0001250	Seizure	5551	PRF1	OMIM:603553
HP:0001250	Seizure	5551	PRF1	ORPHA:540
HP:0001250	Seizure	8676	STX11	OMIM:603552
HP:0001250	Seizure	8676	STX11	ORPHA:540
HP:0001250	Seizure	554	AVPR2	ORPHA:223
HP:0001250	Seizure	554	AVPR2	OMIM:304800
HP:0001250	Seizure	359	AQP2	ORPHA:223
HP:0001250	Seizure	359	AQP2	OMIM:125800
HP:0001250	Seizure	26137	ZBTB20	OMIM:259050
HP:0001250	Seizure	26137	ZBTB20	ORPHA:3042
HP:0001250	Seizure	7750	ZMYM2	OMIM:619522
HP:0001250	Seizure	9562	MINPP1	OMIM:619527
HP:0001250	Seizure	9562	MINPP1	ORPHA:284339
HP:0001250	Seizure	79989	IFT56	OMIM:619534
HP:0001250	Seizure	284098	PIGW	OMIM:616025
HP:0001250	Seizure	284098	PIGW	ORPHA:247262
HP:0001250	Seizure	2157	F8	ORPHA:169805
HP:0001250	Seizure	4851	NOTCH1	OMIM:616028
HP:0001250	Seizure	4851	NOTCH1	ORPHA:974
HP:0001250	Seizure	3930	LBR	OMIM:169400
HP:0001250	Seizure	79641	ROGDI	ORPHA:1946
HP:0001250	Seizure	79641	ROGDI	OMIM:226750
HP:0001250	Seizure	133686	NADK2	OMIM:616034
HP:0001250	Seizure	133686	NADK2	ORPHA:431361
HP:0001250	Seizure	164	AP1G1	OMIM:619548
HP:0001250	Seizure	164	AP1G1	OMIM:619467
HP:0001250	Seizure	8905	AP1S2	OMIM:304340
HP:0001250	Seizure	8803	SUCLA2	ORPHA:1933
HP:0001250	Seizure	8803	SUCLA2	OMIM:612073
HP:0001250	Seizure	10456	HAX1	OMIM:610738
HP:0001250	Seizure	3912	LAMB1	OMIM:615191
HP:0001250	Seizure	3912	LAMB1	ORPHA:352682
HP:0001250	Seizure	55217	TMLHE	OMIM:300872
HP:0001250	Seizure	4728	NDUFS8	OMIM:618222
HP:0001250	Seizure	4728	NDUFS8	ORPHA:255241
HP:0001250	Seizure	10466	COG5	ORPHA:263487
HP:0001250	Seizure	51422	PRKAG2	OMIM:261740
HP:0001250	Seizure	374291	NDUFS7	OMIM:618224
HP:0001250	Seizure	374291	NDUFS7	ORPHA:255241
HP:0001250	Seizure	4723	NDUFV1	OMIM:618225
HP:0001250	Seizure	4723	NDUFV1	ORPHA:255241
HP:0001250	Seizure	30000	TNPO2	OMIM:619556
HP:0001250	Seizure	79705	LRRK1	OMIM:615198
HP:0001250	Seizure	4719	NDUFS1	OMIM:618226
HP:0001250	Seizure	4719	NDUFS1	ORPHA:255241
HP:0001250	Seizure	2627	GATA6	OMIM:600001
HP:0001250	Seizure	2627	GATA6	ORPHA:2255
HP:0001250	Seizure	1908	EDN3	ORPHA:661
HP:0001250	Seizure	2668	GDNF	ORPHA:661
HP:0001250	Seizure	627	BDNF	ORPHA:661
HP:0001250	Seizure	283446	MYO1H	ORPHA:661
HP:0001250	Seizure	283446	MYO1H	OMIM:619482
HP:0001250	Seizure	55869	HDAC8	OMIM:300882
HP:0001250	Seizure	55869	HDAC8	ORPHA:3459
HP:0001250	Seizure	55869	HDAC8	ORPHA:199
HP:0001250	Seizure	91942	NDUFAF2	OMIM:618233
HP:0001250	Seizure	91942	NDUFAF2	ORPHA:255241
HP:0001250	Seizure	650	BMP2	ORPHA:261295
HP:0001250	Seizure	1193	CLIC2	OMIM:300886
HP:0001250	Seizure	1193	CLIC2	ORPHA:324410
HP:0001250	Seizure	79868	ALG13	OMIM:300884
HP:0001250	Seizure	126328	NDUFA11	OMIM:618236
HP:0001250	Seizure	9342	SNAP29	ORPHA:66631
HP:0001250	Seizure	4726	NDUFS6	OMIM:618232
HP:0001250	Seizure	79133	NDUFAF5	OMIM:618238
HP:0001250	Seizure	79133	NDUFAF5	ORPHA:255241
HP:0001250	Seizure	2033	EP300	ORPHA:353284
HP:0001250	Seizure	2033	EP300	OMIM:180849
HP:0001250	Seizure	137682	NDUFAF6	OMIM:618239
HP:0001250	Seizure	137682	NDUFAF6	ORPHA:255241
HP:0001250	Seizure	162514	TRPV3	ORPHA:659
HP:0001250	Seizure	64065	PERP	ORPHA:659
HP:0001250	Seizure	1130	LYST	OMIM:214500
HP:0001250	Seizure	1130	LYST	ORPHA:167
HP:0001250	Seizure	26128	KIFBP	ORPHA:66629
HP:0001250	Seizure	2710	GK	OMIM:307030
HP:0001250	Seizure	9179	AP4M1	OMIM:612936
HP:0001250	Seizure	9179	AP4M1	ORPHA:280763
HP:0001250	Seizure	9126	SMC3	OMIM:610759
HP:0001250	Seizure	9126	SMC3	ORPHA:199
HP:0001250	Seizure	79944	L2HGDH	OMIM:236792
HP:0001250	Seizure	79944	L2HGDH	ORPHA:79314
HP:0001250	Seizure	79068	FTO	OMIM:612938
HP:0001250	Seizure	4976	OPA1	ORPHA:98673
HP:0001250	Seizure	1491	CTH	ORPHA:212
HP:0001250	Seizure	1741	DLG3	OMIM:300850
HP:0001250	Seizure	57551	TAOK1	OMIM:619575
HP:0001250	Seizure	55572	FOXRED1	OMIM:618241
HP:0001250	Seizure	55572	FOXRED1	ORPHA:255241
HP:0001250	Seizure	11274	USP18	OMIM:617397
HP:0001250	Seizure	29920	PYCR2	ORPHA:481152
HP:0001250	Seizure	29920	PYCR2	OMIM:616420
HP:0001250	Seizure	22845	DOLK	OMIM:610768
HP:0001250	Seizure	22845	DOLK	ORPHA:91131
HP:0001250	Seizure	4864	NPC1	OMIM:257220
HP:0001250	Seizure	6898	TAT	ORPHA:28378
HP:0001250	Seizure	10483	SEC23B	ORPHA:201
HP:0001250	Seizure	6391	SDHC	ORPHA:201
HP:0001250	Seizure	205717	USF3	ORPHA:201
HP:0001250	Seizure	100144748	KLLN	ORPHA:201
HP:0001250	Seizure	3643	INSR	ORPHA:263458
HP:0001250	Seizure	7319	UBE2A	OMIM:300860
HP:0001250	Seizure	7319	UBE2A	ORPHA:163956
HP:0001250	Seizure	3172	HNF4A	ORPHA:263455
HP:0001250	Seizure	10524	KAT5	OMIM:619103
HP:0001250	Seizure	51300	TIMMDC1	OMIM:618251
HP:0001250	Seizure	4714	NDUFB8	OMIM:618252
HP:0001250	Seizure	4714	NDUFB8	ORPHA:70474
HP:0001250	Seizure	8635	RNASET2	OMIM:612951
HP:0001250	Seizure	9244	CRLF1	OMIM:272430
HP:0001250	Seizure	9244	CRLF1	ORPHA:1545
HP:0001250	Seizure	1021	CDK6	OMIM:616080
HP:0001250	Seizure	50814	NSDHL	OMIM:300831
HP:0001250	Seizure	50814	NSDHL	ORPHA:251383
HP:0001250	Seizure	3975	LHX1	ORPHA:261265
HP:0001250	Seizure	6928	HNF1B	ORPHA:261265
HP:0001250	Seizure	57003	CCDC47	OMIM:618268
HP:0001250	Seizure	51095	TRNT1	OMIM:616084
HP:0001250	Seizure	10847	SRCAP	OMIM:619595
HP:0001250	Seizure	10847	SRCAP	ORPHA:2044
HP:0001250	Seizure	4157	MC1R	ORPHA:626
HP:0001250	Seizure	4893	NRAS	ORPHA:626
HP:0001250	Seizure	4893	NRAS	OMIM:163200
HP:0001250	Seizure	4893	NRAS	ORPHA:2612
HP:0001250	Seizure	4893	NRAS	OMIM:249400
HP:0001250	Seizure	1528	CYB5A	ORPHA:621
HP:0001250	Seizure	1727	CYB5R3	ORPHA:621
HP:0001250	Seizure	54982	CLN6	OMIM:601780
HP:0001250	Seizure	2132	EXT2	ORPHA:52022
HP:0001250	Seizure	2132	EXT2	ORPHA:466926
HP:0001250	Seizure	2132	EXT2	OMIM:616682
HP:0001250	Seizure	60529	ALX4	ORPHA:52022
HP:0001250	Seizure	60529	ALX4	ORPHA:60015
HP:0001250	Seizure	7504	XK	OMIM:300842
HP:0001250	Seizure	90522	YIF1B	OMIM:619125
HP:0001250	Seizure	374354	NHLRC2	OMIM:618278
HP:0001250	Seizure	22983	MAST1	OMIM:618273
HP:0001250	Seizure	118924	FRA10AC1	OMIM:620113
HP:0001250	Seizure	8911	CACNA1I	OMIM:620114
HP:0001250	Seizure	4488	MSX2	OMIM:168500
HP:0001250	Seizure	4488	MSX2	ORPHA:60015
HP:0001250	Seizure	4488	MSX2	OMIM:604757
HP:0001250	Seizure	9895	TECPR2	ORPHA:320385
HP:0001250	Seizure	4781	NFIB	OMIM:618286
HP:0001250	Seizure	55835	CENPJ	OMIM:608393
HP:0001250	Seizure	4668	NAGA	OMIM:609241
HP:0001250	Seizure	4668	NAGA	ORPHA:79281
HP:0001250	Seizure	4668	NAGA	ORPHA:79279
HP:0001250	Seizure	9487	PIGL	OMIM:280000
HP:0001250	Seizure	9487	PIGL	ORPHA:247262
HP:0001250	Seizure	9487	PIGL	ORPHA:3474
HP:0001250	Seizure	131118	DNAJC19	ORPHA:66634
HP:0001250	Seizure	131118	DNAJC19	OMIM:610198
HP:0001250	Seizure	3593	IL12B	ORPHA:3287
HP:0001250	Seizure	3106	HLA-B	ORPHA:3287
HP:0001250	Seizure	3106	HLA-B	ORPHA:117
HP:0001250	Seizure	6945	MLX	ORPHA:3287
HP:0001250	Seizure	79644	SRD5A3	ORPHA:324737
HP:0001250	Seizure	79644	SRD5A3	OMIM:612713
HP:0001250	Seizure	3735	KARS1	OMIM:619147
HP:0001250	Seizure	27161	AGO2	OMIM:619149
HP:0001250	Seizure	8665	EIF3F	OMIM:618295
HP:0001250	Seizure	9131	AIFM1	OMIM:300816
HP:0001250	Seizure	9131	AIFM1	OMIM:300232
HP:0001250	Seizure	4771	NF2	ORPHA:637
HP:0001250	Seizure	4771	NF2	ORPHA:2495
HP:0001250	Seizure	4771	NF2	OMIM:101000
HP:0001250	Seizure	8517	IKBKG	OMIM:308300
HP:0001250	Seizure	8517	IKBKG	ORPHA:464
HP:0001250	Seizure	26275	HIBCH	OMIM:250620
HP:0001250	Seizure	26275	HIBCH	ORPHA:88639
HP:0001250	Seizure	11005	SPINK5	ORPHA:634
HP:0001250	Seizure	199857	ALG14	OMIM:619031
HP:0001250	Seizure	10134	BCAP31	OMIM:300475
HP:0001250	Seizure	25970	SH2B1	ORPHA:261222
HP:0001250	Seizure	25970	SH2B1	ORPHA:261197
HP:0001250	Seizure	375	ARF1	OMIM:618185
HP:0001250	Seizure	8506	CNTNAP1	OMIM:618186
HP:0001250	Seizure	83700	JAM3	OMIM:613730
HP:0001250	Seizure	95	ACY1	ORPHA:137754
HP:0001250	Seizure	95	ACY1	OMIM:609924
HP:0001250	Seizure	7109	TRAPPC10	OMIM:620027
HP:0001250	Seizure	10274	STAG1	ORPHA:502434
HP:0001250	Seizure	10274	STAG1	OMIM:617635
HP:0001250	Seizure	4774	NFIA	OMIM:613735
HP:0001250	Seizure	4774	NFIA	ORPHA:401986
HP:0001250	Seizure	118987	PDZD8	OMIM:620021
HP:0001250	Seizure	80222	TARS2	OMIM:615918
HP:0001250	Seizure	3073	HEXA	OMIM:272800
HP:0001250	Seizure	54968	TMEM70	ORPHA:1194
HP:0001250	Seizure	54968	TMEM70	OMIM:614052
HP:0001250	Seizure	3141	HLCS	OMIM:253270
HP:0001250	Seizure	3141	HLCS	ORPHA:79242
HP:0001250	Seizure	23431	AP4E1	OMIM:613744
HP:0001250	Seizure	23431	AP4E1	ORPHA:280763
HP:0001250	Seizure	9739	SETD1A	OMIM:619056
HP:0001250	Seizure	340024	SLC6A19	OMIM:234500
HP:0001250	Seizure	340024	SLC6A19	ORPHA:2116
HP:0001250	Seizure	10015	PDCD6IP	OMIM:620047
HP:0001250	Seizure	3117	HLA-DQA1	OMIM:212750
HP:0001250	Seizure	3119	HLA-DQB1	OMIM:212750
HP:0001250	Seizure	8772	FADD	OMIM:613759
HP:0001250	Seizure	8772	FADD	ORPHA:306550
HP:0001250	Seizure	84334	COA8	OMIM:619061
HP:0001250	Seizure	84334	COA8	ORPHA:436271
HP:0001250	Seizure	26053	AUTS2	ORPHA:352490
HP:0001250	Seizure	23461	ABCA5	ORPHA:2026
HP:0001250	Seizure	10382	TUBB4A	OMIM:612438
HP:0001250	Seizure	6197	RPS6KA3	ORPHA:276630
HP:0001250	Seizure	6197	RPS6KA3	OMIM:303600
HP:0001250	Seizure	6197	RPS6KA3	ORPHA:192
HP:0001250	Seizure	6908	TBP	OMIM:607136
HP:0001250	Seizure	5091	PC	OMIM:266150
HP:0001250	Seizure	149371	EXOC8	OMIM:619076
HP:0001250	Seizure	285175	UNC80	OMIM:616801
HP:0001250	Seizure	285175	UNC80	ORPHA:371364
HP:0001250	Seizure	8314	BAP1	ORPHA:2495
HP:0001250	Seizure	8314	BAP1	OMIM:619762
HP:0001250	Seizure	84231	TRAF7	ORPHA:2495
HP:0001250	Seizure	84231	TRAF7	OMIM:618164
HP:0001250	Seizure	6608	SMO	ORPHA:2495
HP:0001250	Seizure	7015	TERT	ORPHA:2495
HP:0001250	Seizure	1282	COL4A1	OMIM:175780
HP:0001250	Seizure	1282	COL4A1	ORPHA:899
HP:0001250	Seizure	9719	ADAMTSL2	OMIM:231050
HP:0001250	Seizure	22859	ADGRL1	OMIM:620065
HP:0001250	Seizure	84992	PIGY	OMIM:616809
HP:0001250	Seizure	84992	PIGY	ORPHA:247262
HP:0001250	Seizure	58508	KMT2C	ORPHA:261652
HP:0001250	Seizure	58508	KMT2C	OMIM:617768
HP:0001250	Seizure	92002	CCNQ	ORPHA:140952
HP:0001250	Seizure	5591	PRKDC	OMIM:615966
HP:0001250	Seizure	25828	TXN2	OMIM:616811
HP:0001250	Seizure	114548	NLRP3	OMIM:607115
HP:0001250	Seizure	3187	HNRNPH1	OMIM:620083
HP:0001250	Seizure	63895	PIEZO2	OMIM:248700
HP:0001250	Seizure	11152	WDR45	OMIM:300894
HP:0001250	Seizure	11152	WDR45	ORPHA:329284
HP:0001250	Seizure	2937	GSS	OMIM:266130
HP:0001250	Seizure	2778	GNAS	OMIM:612462
HP:0001250	Seizure	2778	GNAS	OMIM:103580
HP:0001250	Seizure	84317	CCDC115	OMIM:616828
HP:0001250	Seizure	92154	MTSS2	OMIM:620086
HP:0001250	Seizure	84978	FRMD5	OMIM:620094
HP:0001250	Seizure	6253	RTN2	ORPHA:100993
HP:0001250	Seizure	51271	UBAP1	ORPHA:100993
HP:0001250	Seizure	54413	NLGN3	OMIM:300425
HP:0001250	Seizure	10159	ATP6AP2	OMIM:300423
HP:0001250	Seizure	10159	ATP6AP2	ORPHA:363654
HP:0001250	Seizure	23503	ZFYVE26	ORPHA:100996
HP:0001250	Seizure	51004	COQ6	OMIM:614650
HP:0001250	Seizure	57017	COQ9	OMIM:614654
HP:0001250	Seizure	80199	FUZ	ORPHA:1136
HP:0001250	Seizure	55690	PACS1	ORPHA:329224
HP:0001250	Seizure	55690	PACS1	OMIM:615009
HP:0001250	Seizure	79738	BBS10	OMIM:615987
HP:0001250	Seizure	3720	JARID2	OMIM:620098
HP:0001250	Seizure	3075	CFH	OMIM:235400
HP:0001250	Seizure	3078	CFHR1	OMIM:235400
HP:0001250	Seizure	10878	CFHR3	OMIM:235400
HP:0001250	Seizure	6683	SPAST	ORPHA:100985
HP:0001250	Seizure	51621	KLF13	OMIM:612001
HP:0001250	Seizure	471	ATIC	ORPHA:250977
HP:0001250	Seizure	471	ATIC	OMIM:608688
HP:0001250	Seizure	51807	TUBA8	ORPHA:250972
HP:0001250	Seizure	411	ARSB	OMIM:253200
HP:0001250	Seizure	22880	MORC2	ORPHA:466768
HP:0001250	Seizure	55784	MCTP2	ORPHA:1596
HP:0001250	Seizure	51010	EXOSC3	OMIM:614678
HP:0001250	Seizure	51010	EXOSC3	ORPHA:2254
HP:0001250	Seizure	51218	GLRX5	OMIM:616859
HP:0001250	Seizure	11253	MAN1B1	OMIM:614202
HP:0001250	Seizure	11253	MAN1B1	ORPHA:397941
HP:0001250	Seizure	7874	USP7	OMIM:616863
HP:0001250	Seizure	7874	USP7	ORPHA:500055
HP:0001250	Seizure	23400	ATP13A2	OMIM:606693
HP:0001250	Seizure	1641	DCX	OMIM:300067
HP:0001250	Seizure	1641	DCX	ORPHA:2148
HP:0001250	Seizure	1105	CHD1	ORPHA:529965
HP:0001250	Seizure	1105	CHD1	OMIM:617682
HP:0001250	Seizure	5718	PSMD12	ORPHA:529962
HP:0001250	Seizure	5718	PSMD12	OMIM:617516
HP:0001250	Seizure	2186	BPTF	ORPHA:529962
HP:0001250	Seizure	3758	KCNJ1	OMIM:241200
HP:0001250	Seizure	23065	EMC1	OMIM:616875
HP:0001250	Seizure	80781	COL18A1	ORPHA:1571
HP:0001250	Seizure	80781	COL18A1	OMIM:267750
HP:0001250	Seizure	5062	PAK2	ORPHA:1571
HP:0001250	Seizure	5062	PAK2	OMIM:618458
HP:0001250	Seizure	5498	PPOX	ORPHA:79473
HP:0001250	Seizure	55644	OSGEP	OMIM:617729
HP:0001250	Seizure	55644	OSGEP	ORPHA:2065
HP:0001250	Seizure	57572	DOCK6	OMIM:614219
HP:0001250	Seizure	57572	DOCK6	ORPHA:974
HP:0001250	Seizure	4644	MYO5A	ORPHA:79476
HP:0001250	Seizure	4644	MYO5A	ORPHA:33445
HP:0001250	Seizure	4644	MYO5A	OMIM:214450
HP:0001250	Seizure	7074	TIAM1	OMIM:619908
HP:0001250	Seizure	59336	PRDM13	OMIM:619909
HP:0001250	Seizure	59336	PRDM13	OMIM:619761
HP:0001250	Seizure	3835	KIF22	ORPHA:93360
HP:0001250	Seizure	2464	FRA16E	OMIM:136570
HP:0001250	Seizure	79784	MYH14	ORPHA:397744
HP:0001250	Seizure	112858	TP53RK	OMIM:617730
HP:0001250	Seizure	112858	TP53RK	ORPHA:2065
HP:0001250	Seizure	81562	LMAN2L	OMIM:616887
HP:0001250	Seizure	163786	SASS6	OMIM:616402
HP:0001250	Seizure	490	ATP2B1	OMIM:619910
HP:0001250	Seizure	4929	NR4A2	OMIM:619911
HP:0001250	Seizure	6925	TCF4	ORPHA:2896
HP:0001250	Seizure	6925	TCF4	OMIM:610954
HP:0001250	Seizure	23209	MLC1	OMIM:604004
HP:0001250	Seizure	2316	FLNA	OMIM:300049
HP:0001250	Seizure	2316	FLNA	OMIM:300048
HP:0001250	Seizure	2890	GRIA1	OMIM:619927
HP:0001250	Seizure	2890	GRIA1	OMIM:619931
HP:0001250	Seizure	54805	CNNM2	OMIM:616418
HP:0001250	Seizure	55164	SHQ1	OMIM:619922
HP:0001250	Seizure	2767	GNA11	ORPHA:1556
HP:0001250	Seizure	151188	ARL6IP6	ORPHA:1556
HP:0001250	Seizure	3756	KCNH1	ORPHA:420561
HP:0001250	Seizure	3756	KCNH1	OMIM:135500
HP:0001250	Seizure	3756	KCNH1	ORPHA:3473
HP:0001250	Seizure	3756	KCNH1	OMIM:611816
HP:0001250	Seizure	5495	PPM1B	ORPHA:163693
HP:0001250	Seizure	6519	SLC3A1	ORPHA:163693
HP:0001250	Seizure	9581	PREPL	ORPHA:163693
HP:0001250	Seizure	79823	CAMKMT	ORPHA:163693
HP:0001250	Seizure	29929	ALG6	OMIM:603147
HP:0001250	Seizure	29929	ALG6	ORPHA:79320
HP:0001250	Seizure	10717	AP4B1	ORPHA:280763
HP:0001250	Seizure	10717	AP4B1	OMIM:614066
HP:0001250	Seizure	4841	NONO	ORPHA:466791
HP:0001250	Seizure	4841	NONO	OMIM:300967
HP:0001250	Seizure	57502	NLGN4X	OMIM:300495
HP:0001250	Seizure	9320	TRIP12	OMIM:617752
HP:0001250	Seizure	5879	RAC1	OMIM:617751
HP:0001250	Seizure	5879	RAC1	ORPHA:500159
HP:0001250	Seizure	440	ASNS	OMIM:615574
HP:0001250	Seizure	5538	PPT1	OMIM:256730
HP:0001250	Seizure	5455	POU3F3	OMIM:618604
HP:0001250	Seizure	5430	POLR2A	OMIM:618603
HP:0001250	Seizure	3265	HRAS	ORPHA:2874
HP:0001250	Seizure	3265	HRAS	OMIM:163200
HP:0001250	Seizure	3265	HRAS	ORPHA:2612
HP:0001250	Seizure	23529	CLCF1	ORPHA:1545
HP:0001250	Seizure	22827	PUF60	OMIM:615583
HP:0001250	Seizure	22827	PUF60	ORPHA:508488
HP:0001250	Seizure	10369	CACNG2	OMIM:614256
HP:0001250	Seizure	1497	CTNS	ORPHA:411634
HP:0001250	Seizure	26235	FBXL4	OMIM:615471
HP:0001250	Seizure	5238	PGM3	ORPHA:443811
HP:0001250	Seizure	9254	CACNA2D2	OMIM:618501
HP:0001250	Seizure	91801	ALKBH8	OMIM:618504
HP:0001250	Seizure	4072	EPCAM	ORPHA:144
HP:0001250	Seizure	4292	MLH1	ORPHA:144
HP:0001250	Seizure	5395	PMS2	ORPHA:144
HP:0001250	Seizure	27030	MLH3	ORPHA:144
HP:0001250	Seizure	22909	FAN1	ORPHA:144
HP:0001250	Seizure	7048	TGFBR2	ORPHA:144
HP:0001250	Seizure	2956	MSH6	ORPHA:144
HP:0001250	Seizure	5378	PMS1	ORPHA:144
HP:0001250	Seizure	4436	MSH2	ORPHA:144
HP:0001250	Seizure	4552	MTRR	OMIM:236270
HP:0001250	Seizure	4552	MTRR	ORPHA:2169
HP:0001250	Seizure	65993	MRPS34	OMIM:617664
HP:0001250	Seizure	80816	ASXL3	OMIM:615485
HP:0001250	Seizure	80816	ASXL3	ORPHA:352577
HP:0001250	Seizure	387787	LIPT2	OMIM:617668
HP:0001250	Seizure	64072	CDH23	ORPHA:2965
HP:0001250	Seizure	64072	CDH23	ORPHA:91347
HP:0001250	Seizure	9049	AIP	ORPHA:2965
HP:0001250	Seizure	55904	KMT2E	OMIM:618512
HP:0001250	Seizure	10686	CLDN16	OMIM:248250
HP:0001250	Seizure	57082	KNL1	OMIM:604321
HP:0001250	Seizure	100996717	NOTCH2NLC	OMIM:603472
HP:0001250	Seizure	100996717	NOTCH2NLC	ORPHA:2289
HP:0001250	Seizure	55650	PIGV	OMIM:239300
HP:0001250	Seizure	55650	PIGV	ORPHA:247262
HP:0001250	Seizure	284403	WDR62	OMIM:604317
HP:0001250	Seizure	410	ARSA	ORPHA:309271
HP:0001250	Seizure	410	ARSA	ORPHA:309263
HP:0001250	Seizure	410	ARSA	OMIM:250100
HP:0001250	Seizure	410	ARSA	ORPHA:309256
HP:0001250	Seizure	348	APOE	OMIM:607822
HP:0001250	Seizure	288	ANK3	OMIM:615493
HP:0001250	Seizure	288	ANK3	ORPHA:356996
HP:0001250	Seizure	23250	ATP11A	OMIM:619851
HP:0001250	Seizure	818	CAMK2G	OMIM:618522
HP:0001250	Seizure	5105	PCK1	OMIM:261680
HP:0001250	Seizure	1020	CDK5	OMIM:616342
HP:0001250	Seizure	7343	UBTF	OMIM:617672
HP:0001250	Seizure	7343	UBTF	ORPHA:500180
HP:0001250	Seizure	7994	KAT6A	ORPHA:457193
HP:0001250	Seizure	7994	KAT6A	OMIM:616268
HP:0001250	Seizure	1716	DGUOK	OMIM:251880
HP:0001250	Seizure	80776	B9D2	OMIM:614175
HP:0001250	Seizure	80776	B9D2	ORPHA:475
HP:0001250	Seizure	23007	PLCH1	ORPHA:93925
HP:0001250	Seizure	10716	TBR1	ORPHA:1617
HP:0001250	Seizure	788	SLC25A20	ORPHA:159
HP:0001250	Seizure	788	SLC25A20	OMIM:212138
HP:0001250	Seizure	4854	NOTCH3	OMIM:125310
HP:0001250	Seizure	4854	NOTCH3	ORPHA:136
HP:0001250	Seizure	5518	PPP2R1A	OMIM:616362
HP:0001250	Seizure	5518	PPP2R1A	ORPHA:457284
HP:0001250	Seizure	26038	CHD5	OMIM:619873
HP:0001250	Seizure	3590	IL11RA	OMIM:614188
HP:0001250	Seizure	55773	TBC1D23	OMIM:617695
HP:0001250	Seizure	57680	CHD8	OMIM:615032
HP:0001250	Seizure	8558	CDK10	OMIM:617694
HP:0001250	Seizure	51692	CPSF3	OMIM:619876
HP:0001250	Seizure	5590	PRKCZ	ORPHA:1606
HP:0001250	Seizure	23013	SPEN	ORPHA:1606
HP:0001250	Seizure	23013	SPEN	OMIM:619312
HP:0001250	Seizure	8510	MMP23B	ORPHA:1606
HP:0001250	Seizure	7798	LUZP1	ORPHA:1606
HP:0001250	Seizure	6497	SKI	ORPHA:1606
HP:0001250	Seizure	10630	PDPN	ORPHA:1606
HP:0001250	Seizure	3339	HSPG2	ORPHA:1606
HP:0001250	Seizure	10277	UBE4B	ORPHA:1606
HP:0001250	Seizure	8514	KCNAB2	ORPHA:1606
HP:0001250	Seizure	63976	PRDM16	ORPHA:1606
HP:0001250	Seizure	54897	CASZ1	ORPHA:1606
HP:0001250	Seizure	6262	RYR2	OMIM:604772
HP:0001250	Seizure	845	CASQ2	OMIM:604772
HP:0001250	Seizure	845	CASQ2	OMIM:611938
HP:0001250	Seizure	148789	B3GALNT2	ORPHA:588
HP:0001250	Seizure	148789	B3GALNT2	ORPHA:899
HP:0001250	Seizure	9215	LARGE1	ORPHA:588
HP:0001250	Seizure	9215	LARGE1	OMIM:236670
HP:0001250	Seizure	9215	LARGE1	ORPHA:899
HP:0001250	Seizure	1822	ATN1	ORPHA:101
HP:0001250	Seizure	1822	ATN1	OMIM:125370
HP:0001250	Seizure	1822	ATN1	OMIM:618494
HP:0001250	Seizure	285362	SUMF1	ORPHA:585
HP:0001250	Seizure	472	ATM	ORPHA:100
HP:0001250	Seizure	472	ATM	OMIM:208900
HP:0001250	Seizure	9276	COPB2	OMIM:619884
HP:0001250	Seizure	56098	PCDHGC4	OMIM:619880
HP:0001250	Seizure	27068	PPA2	OMIM:617222
HP:0001250	Seizure	4285	MIPEP	OMIM:617228
HP:0001250	Seizure	3773	KCNJ16	OMIM:619406
HP:0001250	Seizure	38	ACAT1	ORPHA:134
HP:0001250	Seizure	5354	PLP1	OMIM:312080
HP:0001250	Seizure	1758	DMP1	ORPHA:289176
HP:0001250	Seizure	5167	ENPP1	ORPHA:289176
HP:0001250	Seizure	5167	ENPP1	ORPHA:51608
HP:0001250	Seizure	64919	BCL11B	OMIM:617237
HP:0001250	Seizure	84295	PHF6	ORPHA:127
HP:0001250	Seizure	84295	PHF6	OMIM:301900
HP:0001250	Seizure	286204	CRB2	OMIM:219730
HP:0001250	Seizure	1967	EIF2B1	OMIM:603896
HP:0001250	Seizure	10533	ATG7	OMIM:619422
HP:0001250	Seizure	205327	C2orf69	OMIM:619423
HP:0001250	Seizure	5881	RAC3	OMIM:618577
HP:0001250	Seizure	26173	INTS1	OMIM:618571
HP:0001250	Seizure	55656	INTS8	OMIM:618572
HP:0001250	Seizure	27429	HTRA2	OMIM:617248
HP:0001250	Seizure	4212	MEIS2	ORPHA:261190
HP:0001250	Seizure	3242	HPD	OMIM:276710
HP:0001250	Seizure	389827	MYMK	OMIM:254940
HP:0001250	Seizure	4126	MANBA	ORPHA:118
HP:0001250	Seizure	4126	MANBA	OMIM:248510
HP:0001250	Seizure	149233	IL23R	ORPHA:117
HP:0001250	Seizure	6775	STAT4	ORPHA:117
HP:0001250	Seizure	6775	STAT4	ORPHA:93552
HP:0001250	Seizure	3586	IL10	ORPHA:117
HP:0001250	Seizure	1230	CCR1	ORPHA:117
HP:0001250	Seizure	3592	IL12A	ORPHA:117
HP:0001250	Seizure	101928376	IL12A-AS1	ORPHA:117
HP:0001250	Seizure	7099	TLR4	ORPHA:117
HP:0001250	Seizure	3459	IFNGR1	ORPHA:117
HP:0001250	Seizure	720	C4A	ORPHA:117
HP:0001250	Seizure	337867	UBAC2	ORPHA:117
HP:0001250	Seizure	51752	ERAP1	ORPHA:117
HP:0001250	Seizure	8302	KLRC4	ORPHA:117
HP:0001250	Seizure	291	SLC25A4	ORPHA:254892
HP:0001250	Seizure	291	SLC25A4	OMIM:617184
HP:0001250	Seizure	11232	POLG2	ORPHA:254892
HP:0001250	Seizure	11232	POLG2	OMIM:610131
HP:0001250	Seizure	9361	LONP1	OMIM:600373
HP:0001250	Seizure	9361	LONP1	ORPHA:79243
HP:0001250	Seizure	9488	PIGB	OMIM:618580
HP:0001250	Seizure	4512	MT-CO1	ORPHA:550
HP:0001250	Seizure	4513	MT-CO2	ORPHA:550
HP:0001250	Seizure	4514	MT-CO3	ORPHA:550
HP:0001250	Seizure	84894	LINGO1	OMIM:618103
HP:0001250	Seizure	160418	TMTC3	OMIM:617255
HP:0001250	Seizure	123606	NIPA1	ORPHA:261183
HP:0001250	Seizure	123606	NIPA1	OMIM:600363
HP:0001250	Seizure	7283	TUBG1	ORPHA:261183
HP:0001250	Seizure	7283	TUBG1	OMIM:615412
HP:0001250	Seizure	81614	NIPA2	ORPHA:261183
HP:0001250	Seizure	6418	SET	OMIM:618106
HP:0001250	Seizure	9526	MPDU1	OMIM:609180
HP:0001250	Seizure	9526	MPDU1	ORPHA:79323
HP:0001250	Seizure	60675	PROK2	OMIM:610628
HP:0001250	Seizure	60675	PROK2	ORPHA:478
HP:0001250	Seizure	201294	UNC13D	ORPHA:540
HP:0001250	Seizure	6813	STXBP2	ORPHA:540
HP:0001250	Seizure	1120	CHKB	OMIM:602541
HP:0001250	Seizure	128869	PIGU	OMIM:618590
HP:0001250	Seizure	745	MYRF	OMIM:618113
HP:0001250	Seizure	10300	KATNB1	ORPHA:89844
HP:0001250	Seizure	10300	KATNB1	OMIM:616212
HP:0001250	Seizure	57520	HECW2	OMIM:617268
HP:0001250	Seizure	5053	PAH	OMIM:261600
HP:0001250	Seizure	5053	PAH	ORPHA:79254
HP:0001250	Seizure	5053	PAH	ORPHA:2209
HP:0001250	Seizure	4952	OCRL	ORPHA:534
HP:0001250	Seizure	4952	OCRL	OMIM:309000
HP:0001250	Seizure	537	ATP6AP1	OMIM:300972
HP:0001250	Seizure	1621	DBH	OMIM:223360
HP:0001250	Seizure	3376	IARS1	ORPHA:541423
HP:0001250	Seizure	3376	IARS1	OMIM:617093
HP:0001250	Seizure	1312	COMT	ORPHA:567
HP:0001250	Seizure	221037	JMJD1C	ORPHA:567
HP:0001250	Seizure	6239	RREB1	ORPHA:567
HP:0001250	Seizure	6899	TBX1	ORPHA:567
HP:0001250	Seizure	6899	TBX1	ORPHA:1727
HP:0001250	Seizure	6899	TBX1	OMIM:188400
HP:0001250	Seizure	7290	HIRA	ORPHA:567
HP:0001250	Seizure	9632	SEC24C	ORPHA:567
HP:0001250	Seizure	7353	UFD1	ORPHA:567
HP:0001250	Seizure	421	ARVCF	ORPHA:567
HP:0001250	Seizure	8260	NAA10	ORPHA:568
HP:0001250	Seizure	8260	NAA10	OMIM:309800
HP:0001250	Seizure	54880	BCOR	ORPHA:568
HP:0001250	Seizure	54880	BCOR	OMIM:300166
HP:0001250	Seizure	54880	BCOR	OMIM:309800
HP:0001250	Seizure	80311	KLHL15	OMIM:300982
HP:0001250	Seizure	6045	RNF2	OMIM:619460
HP:0001250	Seizure	6557	SLC12A1	OMIM:601678
HP:0001250	Seizure	5631	PRPS1	OMIM:301835
HP:0001250	Seizure	7161	TP73	OMIM:619466
HP:0001250	Seizure	2009	EML1	OMIM:600348
HP:0001250	Seizure	9758	FRMPD4	OMIM:300983
HP:0001250	Seizure	3188	HNRNPH2	OMIM:300986
HP:0001250	Seizure	4548	MTR	OMIM:250940
HP:0001250	Seizure	84065	TMEM222	OMIM:619470
HP:0001250	Seizure	57187	THOC2	OMIM:300957
HP:0001250	Seizure	57187	THOC2	ORPHA:457240
HP:0001250	Seizure	4576	MT-TT	ORPHA:254857
HP:0001250	Seizure	348180	CTU2	OMIM:618142
HP:0001250	Seizure	10682	EBP	OMIM:300960
HP:0001250	Seizure	10682	EBP	ORPHA:401973
HP:0001250	Seizure	2222	FDFT1	OMIM:618156
HP:0001250	Seizure	6872	TAF1	OMIM:300966
HP:0001250	Seizure	6872	TAF1	ORPHA:480907
HP:0001250	Seizure	8567	MADD	OMIM:619004
HP:0001250	Seizure	8567	MADD	OMIM:619005
HP:0001250	Seizure	2760	GM2A	ORPHA:309246
HP:0001250	Seizure	2760	GM2A	OMIM:272750
HP:0001250	Seizure	5058	PAK1	OMIM:618158
HP:0001250	Seizure	8239	USP9X	OMIM:300968
HP:0001250	Seizure	8239	USP9X	ORPHA:480880
HP:0001250	Seizure	79152	FA2H	ORPHA:171629
HP:0001250	Seizure	79152	FA2H	OMIM:612319
HP:0001250	Seizure	9373	PLAA	ORPHA:521426
HP:0001250	Seizure	9373	PLAA	OMIM:617527
HP:0001250	Seizure	1654	DDX3X	OMIM:300958
HP:0001250	Seizure	1654	DDX3X	ORPHA:457260
HP:0001250	Seizure	2998	GYS2	ORPHA:2089
HP:0001250	Seizure	2998	GYS2	OMIM:240600
HP:0001250	Seizure	57038	RARS2	OMIM:611523
HP:0001250	Seizure	3145	HMBS	OMIM:176000
HP:0001250	Seizure	3145	HMBS	ORPHA:79276
HP:0001250	Seizure	10681	GNB5	ORPHA:542306
HP:0001250	Seizure	10681	GNB5	OMIM:617173
HP:0001250	Seizure	10681	GNB5	OMIM:617182
HP:0001250	Seizure	3516	RBPJ	ORPHA:974
HP:0001250	Seizure	57514	ARHGAP31	ORPHA:974
HP:0001250	Seizure	57514	ARHGAP31	OMIM:100300
HP:0001250	Seizure	285203	EOGT	ORPHA:974
HP:0001250	Seizure	54567	DLL4	ORPHA:974
HP:0001250	Seizure	1200	TPP1	ORPHA:284324
HP:0001250	Seizure	1200	TPP1	OMIM:204500
HP:0001250	Seizure	3090	HIC1	ORPHA:531
HP:0001250	Seizure	7531	YWHAE	ORPHA:531
HP:0001250	Seizure	23387	SIK3	OMIM:618162
HP:0001250	Seizure	63899	NSUN3	OMIM:619012
HP:0001250	Seizure	727676	SNORD118	ORPHA:542310
HP:0001250	Seizure	727676	SNORD118	OMIM:614561
HP:0001250	Seizure	11043	MID2	OMIM:300928
HP:0001250	Seizure	84081	NSRP1	OMIM:620001
HP:0001250	Seizure	114034	TOE1	ORPHA:284339
HP:0001250	Seizure	114034	TOE1	OMIM:614969
HP:0001250	Seizure	3839	KPNA3	ORPHA:171612
HP:0001250	Seizure	84842	HPDL	OMIM:619026
HP:0001250	Seizure	5860	QDPR	OMIM:261630
HP:0001250	Seizure	1496	CTNNA2	OMIM:618174
HP:0001250	Seizure	83550	GPR101	OMIM:300942
HP:0001250	Seizure	6559	SLC12A3	OMIM:263800
HP:0001250	Seizure	51002	TPRKB	ORPHA:2065
HP:0001250	Seizure	57122	NUP107	ORPHA:2065
HP:0001250	Seizure	8270	LAGE3	ORPHA:2065
HP:0001250	Seizure	8270	LAGE3	OMIM:301006
HP:0001250	Seizure	55294	FBXW7	OMIM:620012
HP:0001250	Seizure	6095	RORA	OMIM:618060
HP:0001250	Seizure	5393	EXOSC9	OMIM:618065
HP:0001250	Seizure	5393	EXOSC9	ORPHA:2254
HP:0001250	Seizure	10312	TCIRG1	OMIM:259700
HP:0001250	Seizure	5009	OTC	OMIM:311250
HP:0001250	Seizure	123263	MTFMT	OMIM:614947
HP:0001250	Seizure	123263	MTFMT	ORPHA:255241
HP:0001250	Seizure	1278	COL1A2	ORPHA:230851
HP:0001250	Seizure	9693	RAPGEF2	OMIM:618075
HP:0001250	Seizure	51506	UFC1	OMIM:618076
HP:0001250	Seizure	63916	ELMO2	ORPHA:3019
HP:0001250	Seizure	4010	LMX1B	ORPHA:495818
HP:0001250	Seizure	4010	LMX1B	ORPHA:2614
HP:0001250	Seizure	6662	SOX9	OMIM:114290
HP:0001250	Seizure	10978	CLP1	OMIM:615803
HP:0001250	Seizure	10978	CLP1	ORPHA:411493
HP:0001250	Seizure	10225	CD96	OMIM:211750
HP:0001250	Seizure	10225	CD96	ORPHA:1308
HP:0001250	Seizure	271	AMPD2	OMIM:615809
HP:0001250	Seizure	93210	PGAP3	ORPHA:247262
HP:0001250	Seizure	93210	PGAP3	OMIM:615716
HP:0001250	Seizure	8913	CACNA1G	OMIM:618087
HP:0001250	Seizure	64207	IRF2BPL	OMIM:618088
HP:0001250	Seizure	80204	FBXO11	OMIM:618089
HP:0001250	Seizure	5624	PROC	OMIM:612304
HP:0001250	Seizure	215	ABCD1	OMIM:300100
HP:0001250	Seizure	215	ABCD1	ORPHA:139396
HP:0001250	Seizure	7852	CXCR4	ORPHA:51636
HP:0001250	Seizure	1009	CDH11	ORPHA:1299
HP:0001250	Seizure	113235	SLC46A1	OMIM:229050
HP:0001250	Seizure	113235	SLC46A1	ORPHA:90045
HP:0001250	Seizure	4036	LRP2	ORPHA:2143
HP:0001250	Seizure	4036	LRP2	OMIM:222448
HP:0001250	Seizure	3782	KCNN3	ORPHA:3473
HP:0001250	Seizure	54496	PRMT7	ORPHA:464288
HP:0001250	Seizure	1629	DBT	OMIM:248600
HP:0001250	Seizure	593	BCKDHA	OMIM:248600
HP:0001250	Seizure	594	BCKDHB	OMIM:248600
HP:0001250	Seizure	9508	ADAMTS3	ORPHA:2136
HP:0001250	Seizure	79633	FAT4	ORPHA:2136
HP:0001250	Seizure	4519	MT-CYB	ORPHA:137675
HP:0001250	Seizure	79753	SNIP1	OMIM:614501
HP:0001250	Seizure	3418	IDH2	OMIM:613657
HP:0001250	Seizure	10056	FARSB	OMIM:613658
HP:0001250	Seizure	3748	KCNC3	ORPHA:98768
HP:0001250	Seizure	493856	CISD2	ORPHA:3463
HP:0001250	Seizure	7466	WFS1	ORPHA:3463
HP:0001250	Seizure	7466	WFS1	OMIM:222300
HP:0001250	Seizure	10436	EMG1	ORPHA:1270
HP:0001250	Seizure	81887	LAS1L	ORPHA:3459
HP:0001250	Seizure	440138	ALG11	OMIM:613661
HP:0001250	Seizure	440138	ALG11	ORPHA:280071
HP:0001250	Seizure	5627	PROS1	OMIM:614514
HP:0001250	Seizure	2050	EPHB4	ORPHA:137667
HP:0001250	Seizure	5921	RASA1	ORPHA:137667
HP:0001250	Seizure	9440	MED17	OMIM:613668
HP:0001250	Seizure	3662	IRF4	ORPHA:3452
HP:0001250	Seizure	4846	NOS3	OMIM:189800
HP:0001250	Seizure	57393	CLTRN	ORPHA:2116
HP:0001250	Seizure	440193	CCDC88C	OMIM:236600
HP:0001250	Seizure	445	ASS1	OMIM:215700
HP:0001250	Seizure	64116	SLC39A8	ORPHA:468699
HP:0001250	Seizure	64116	SLC39A8	OMIM:616721
HP:0001250	Seizure	5832	ALDH18A1	ORPHA:447753
HP:0001250	Seizure	5832	ALDH18A1	OMIM:219150
HP:0001250	Seizure	28962	OSTM1	OMIM:259720
HP:0001250	Seizure	28962	OSTM1	ORPHA:85179
HP:0001250	Seizure	55023	PHIP	ORPHA:589905
HP:0001250	Seizure	80331	DNAJC5	OMIM:162350
HP:0001250	Seizure	54704	PDP1	OMIM:608782
HP:0001250	Seizure	8600	TNFSF11	OMIM:259710
HP:0001250	Seizure	91949	COG7	OMIM:608779
HP:0001250	Seizure	91949	COG7	ORPHA:79333
HP:0001250	Seizure	79796	ALG9	OMIM:608776
HP:0001250	Seizure	79796	ALG9	ORPHA:79328
HP:0001250	Seizure	1729	DIAPH1	ORPHA:2573
HP:0001250	Seizure	1729	DIAPH1	OMIM:616632
HP:0001250	Seizure	59	ACTA2	ORPHA:2573
HP:0001250	Seizure	57674	RNF213	ORPHA:2573
HP:0001250	Seizure	1776	DNASE1L3	ORPHA:36412
HP:0001250	Seizure	26115	TANC2	OMIM:618906
HP:0001250	Seizure	55593	OTUD5	OMIM:301056
HP:0001250	Seizure	889	KRIT1	ORPHA:221061
HP:0001250	Seizure	889	KRIT1	OMIM:116860
HP:0001250	Seizure	5160	PDHA1	OMIM:312170
HP:0001250	Seizure	5160	PDHA1	ORPHA:255241
HP:0001250	Seizure	5160	PDHA1	ORPHA:79243
HP:0001250	Seizure	998	CDC42	OMIM:616737
HP:0001250	Seizure	998	CDC42	ORPHA:487796
HP:0001250	Seizure	10982	MAPRE2	OMIM:616734
HP:0001250	Seizure	63035	BCORL1	OMIM:301029
HP:0001250	Seizure	1778	DYNC1H1	OMIM:614563
HP:0001250	Seizure	3796	KIF2A	OMIM:615411
HP:0001250	Seizure	10616	RBCK1	OMIM:615895
HP:0001250	Seizure	259232	NALCN	OMIM:615419
HP:0001250	Seizure	259232	NALCN	OMIM:616266
HP:0001250	Seizure	259232	NALCN	ORPHA:371364
HP:0001250	Seizure	100506658	OCLN	ORPHA:1229
HP:0001250	Seizure	100506658	OCLN	OMIM:251290
HP:0001250	Seizure	51185	CRBN	OMIM:607417
HP:0001250	Seizure	5422	POLA1	OMIM:301030
HP:0001250	Seizure	10943	MSL3	OMIM:301032
HP:0001250	Seizure	57511	COG6	OMIM:614576
HP:0001250	Seizure	9343	EFTUD2	ORPHA:79113
HP:0001250	Seizure	9343	EFTUD2	OMIM:610536
HP:0001250	Seizure	60	ACTB	OMIM:243310
HP:0001250	Seizure	60	ACTB	ORPHA:2995
HP:0001250	Seizure	23476	BRD4	ORPHA:199
HP:0001250	Seizure	157680	VPS13B	ORPHA:193
HP:0001250	Seizure	157680	VPS13B	OMIM:216550
HP:0001250	Seizure	71	ACTG1	OMIM:614583
HP:0001250	Seizure	71	ACTG1	ORPHA:2995
HP:0001250	Seizure	368	ABCC6	ORPHA:51608
HP:0001250	Seizure	81689	ISCA1	OMIM:617613
HP:0001250	Seizure	64857	PLEKHG2	OMIM:616763
HP:0001250	Seizure	51520	LARS1	OMIM:615438
HP:0001250	Seizure	25914	RTTN	ORPHA:468631
HP:0001250	Seizure	25914	RTTN	OMIM:614833
HP:0001250	Seizure	63932	STEEP1	OMIM:301013
HP:0001250	Seizure	26503	SLC17A5	OMIM:604369
HP:0001250	Seizure	26503	SLC17A5	OMIM:269920
HP:0001250	Seizure	55617	TASP1	OMIM:618950
HP:0001250	Seizure	6182	MRPL12	OMIM:618951
HP:0001250	Seizure	80210	ARMC9	OMIM:617622
HP:0001250	Seizure	80210	ARMC9	ORPHA:475
HP:0001250	Seizure	4190	MDH1	OMIM:618959
HP:0001250	Seizure	5654	HTRA1	OMIM:616779
HP:0001250	Seizure	617	BCS1L	OMIM:124000
HP:0001250	Seizure	113246	C12orf57	OMIM:218340
HP:0001250	Seizure	6834	SURF1	ORPHA:255241
HP:0001250	Seizure	6834	SURF1	OMIM:220110
HP:0001250	Seizure	6834	SURF1	ORPHA:70474
HP:0001250	Seizure	4729	NDUFV2	ORPHA:255241
HP:0001250	Seizure	55967	NDUFA12	ORPHA:255241
HP:0001250	Seizure	51204	TACO1	ORPHA:255241
HP:0001250	Seizure	4720	NDUFS2	ORPHA:255241
HP:0001250	Seizure	4720	NDUFS2	ORPHA:70474
HP:0001250	Seizure	4724	NDUFS4	ORPHA:255241
HP:0001250	Seizure	4722	NDUFS3	ORPHA:255241
HP:0001250	Seizure	1355	COX15	ORPHA:255241
HP:0001250	Seizure	1892	ECHS1	ORPHA:255241
HP:0001250	Seizure	51079	NDUFA13	ORPHA:255241
HP:0001250	Seizure	4705	NDUFA10	ORPHA:255241
HP:0001250	Seizure	51601	LIPT1	ORPHA:255241
HP:0001250	Seizure	4695	NDUFA2	ORPHA:255241
HP:0001250	Seizure	4697	NDUFA4	ORPHA:255241
HP:0001250	Seizure	4704	NDUFA9	ORPHA:255241
HP:0001250	Seizure	259266	ASPM	OMIM:608716
HP:0001250	Seizure	652	BMP4	ORPHA:139471
HP:0001250	Seizure	8192	CLPP	OMIM:614129
HP:0001250	Seizure	85378	TUBGCP6	ORPHA:2518
HP:0001250	Seizure	85378	TUBGCP6	OMIM:251270
HP:0001250	Seizure	27229	TUBGCP4	ORPHA:2518
HP:0001250	Seizure	9939	RBM8A	OMIM:274000
HP:0001250	Seizure	22930	RAB3GAP1	ORPHA:2510
HP:0001250	Seizure	25782	RAB3GAP2	ORPHA:2510
HP:0001250	Seizure	22931	RAB18	ORPHA:2510
HP:0001250	Seizure	9451	EIF2AK3	ORPHA:1667
HP:0001250	Seizure	11141	IL1RAPL1	OMIM:300143
HP:0001250	Seizure	23309	SIN3B	ORPHA:500166
HP:0001250	Seizure	8884	SLC5A6	OMIM:618973
HP:0001250	Seizure	55367	PIDD1	OMIM:619827
HP:0001250	Seizure	84148	KAT8	OMIM:618974
HP:0001250	Seizure	5274	SERPINI1	OMIM:604218
HP:0001250	Seizure	29899	GPSM2	OMIM:604213
HP:0001250	Seizure	23141	ANKLE2	OMIM:616681
HP:0001250	Seizure	104	ADARB1	OMIM:618862
HP:0001250	Seizure	50651	SLC45A1	OMIM:617532
HP:0001250	Seizure	5723	PSPH	OMIM:614023
HP:0001250	Seizure	8518	ELP1	ORPHA:1764
HP:0001250	Seizure	60684	TRAPPC11	OMIM:615356
HP:0001250	Seizure	60684	TRAPPC11	ORPHA:869
HP:0001250	Seizure	60684	TRAPPC11	ORPHA:369847
HP:0001250	Seizure	84570	COL25A1	ORPHA:91411
HP:0001250	Seizure	79776	ZFHX4	ORPHA:91411
HP:0001250	Seizure	124997	WDR81	ORPHA:1766
HP:0001250	Seizure	51761	ATP8A2	ORPHA:1766
HP:0001250	Seizure	767	CA8	ORPHA:1766
HP:0001250	Seizure	3158	HMGCS2	ORPHA:35701
HP:0001250	Seizure	116931	MED12L	OMIM:618872
HP:0001250	Seizure	249	ALPL	OMIM:241500
HP:0001250	Seizure	249	ALPL	OMIM:241510
HP:0001250	Seizure	3020	H3-3A	OMIM:619720
HP:0001250	Seizure	8722	CTSF	OMIM:615362
HP:0001250	Seizure	10026	PIGK	OMIM:618879
HP:0001250	Seizure	64218	SEMA4A	ORPHA:440437
HP:0001250	Seizure	657	BMPR1A	ORPHA:440437
HP:0001250	Seizure	6224	RPS20	ORPHA:440437
HP:0001250	Seizure	375387	NRROS	OMIM:618875
HP:0001250	Seizure	10501	SEMA6B	OMIM:618876
HP:0001250	Seizure	140803	TRPM6	OMIM:602014
HP:0001250	Seizure	6660	SOX5	ORPHA:313892
HP:0001250	Seizure	9692	PRORP	OMIM:619737
HP:0001250	Seizure	6773	STAT2	OMIM:618886
HP:0001250	Seizure	8560	DEGS1	OMIM:618404
HP:0001250	Seizure	7020	TFAP2A	OMIM:113620
HP:0001250	Seizure	8726	EED	OMIM:617561
HP:0001250	Seizure	4297	KMT2A	ORPHA:319182
HP:0001250	Seizure	4297	KMT2A	OMIM:605130
HP:0001250	Seizure	284439	SLC25A42	OMIM:618416
HP:0001250	Seizure	79600	TCTN1	ORPHA:475
HP:0001250	Seizure	200894	ARL13B	ORPHA:475
HP:0001250	Seizure	9731	CEP104	ORPHA:475
HP:0001250	Seizure	219844	HYLS1	ORPHA:475
HP:0001250	Seizure	23247	KATNIP	ORPHA:475
HP:0001250	Seizure	219854	TMEM218	ORPHA:475
HP:0001250	Seizure	9786	KIAA0586	ORPHA:475
HP:0001250	Seizure	79867	TCTN2	ORPHA:475
HP:0001250	Seizure	10464	PIBF1	ORPHA:475
HP:0001250	Seizure	23116	TOGARAM1	ORPHA:475
HP:0001250	Seizure	25776	CBY1	ORPHA:475
HP:0001250	Seizure	27077	B9D1	ORPHA:475
HP:0001250	Seizure	403	ARL3	ORPHA:475
HP:0001250	Seizure	339983	NAT8L	OMIM:614063
HP:0001250	Seizure	8879	SGPL1	OMIM:617575
HP:0001250	Seizure	84504	NKX6-2	ORPHA:527497
HP:0001250	Seizure	8021	NUP214	OMIM:618426
HP:0001250	Seizure	2643	GCH1	OMIM:233910
HP:0001250	Seizure	8364	H4C3	OMIM:619758
HP:0001250	Seizure	27086	FOXP1	ORPHA:391372
HP:0001250	Seizure	6942	TCF20	OMIM:618430
HP:0001250	Seizure	51341	ZBTB7A	OMIM:619769
HP:0001250	Seizure	7841	MOGS	ORPHA:79330
HP:0001250	Seizure	7841	MOGS	OMIM:606056
HP:0001250	Seizure	9338	TCEAL1	OMIM:301094
HP:0001250	Seizure	540	ATP7B	OMIM:277900
HP:0001250	Seizure	54941	RNF125	OMIM:616260
HP:0001250	Seizure	10195	ALG3	ORPHA:79321
HP:0001250	Seizure	10195	ALG3	OMIM:601110
HP:0001250	Seizure	79087	ALG12	ORPHA:79324
HP:0001250	Seizure	79053	ALG8	ORPHA:79325
HP:0001250	Seizure	8295	TRRAP	OMIM:618454
HP:0001250	Seizure	51117	COQ4	OMIM:616276
HP:0001250	Seizure	3658	IREB2	OMIM:618451
HP:0001250	Seizure	55770	EXOC2	OMIM:619306
HP:0001250	Seizure	1801	DPH1	ORPHA:459061
HP:0001250	Seizure	4594	MMUT	ORPHA:79312
HP:0001250	Seizure	10371	SEMA3A	ORPHA:478
HP:0001250	Seizure	81848	SPRY4	ORPHA:478
HP:0001250	Seizure	23767	FLRT3	ORPHA:478
HP:0001250	Seizure	79625	NDNF	ORPHA:478
HP:0001250	Seizure	389549	FEZF1	ORPHA:478
HP:0001250	Seizure	3730	ANOS1	ORPHA:478
HP:0001250	Seizure	54756	IL17RD	ORPHA:478
HP:0001250	Seizure	285025	CCDC141	ORPHA:478
HP:0001250	Seizure	55636	CHD7	ORPHA:478
HP:0001250	Seizure	1848	DUSP6	ORPHA:478
HP:0001250	Seizure	6870	TACR3	ORPHA:478
HP:0001250	Seizure	9394	HS6ST1	ORPHA:478
HP:0001250	Seizure	8822	FGF17	ORPHA:478
HP:0001250	Seizure	5898	RALA	OMIM:619311
HP:0001250	Seizure	85476	GFM1	OMIM:609060
HP:0001250	Seizure	10102	TSFM	OMIM:610505
HP:0001250	Seizure	256297	PTF1A	OMIM:609069
HP:0001250	Seizure	23102	TBC1D2B	OMIM:619323
HP:0001250	Seizure	29998	BICRA	OMIM:619325
HP:0001250	Seizure	23030	KDM4B	OMIM:619320
HP:0001250	Seizure	84892	POMGNT2	ORPHA:899
HP:0001250	Seizure	729920	CRPPA	ORPHA:899
HP:0001250	Seizure	10329	RXYLT1	ORPHA:899
HP:0001250	Seizure	1605	DAG1	ORPHA:899
HP:0001250	Seizure	4942	OAT	ORPHA:414
HP:0001250	Seizure	1725	DHPS	OMIM:618480
HP:0001250	Seizure	28982	FLVCR1	ORPHA:88628
HP:0001250	Seizure	4621	MYH3	OMIM:193700
HP:0001250	Seizure	2560	GABRB1	OMIM:617153
HP:0001250	Seizure	2530	FUT8	OMIM:618005
HP:0001250	Seizure	7965	AIMP2	OMIM:618006
HP:0001250	Seizure	10157	AASS	OMIM:238700
HP:0001250	Seizure	10157	AASS	ORPHA:3124
HP:0001250	Seizure	10157	AASS	ORPHA:2203
HP:0001250	Seizure	1781	DYNC1I2	OMIM:618492
HP:0001250	Seizure	372	ARCN1	OMIM:617164
HP:0001250	Seizure	3977	LIFR	OMIM:601559
HP:0001250	Seizure	54681	P4HTM	OMIM:618493
HP:0001250	Seizure	5283	PIGH	OMIM:618010
HP:0001250	Seizure	5144	PDE4D	ORPHA:439822
HP:0001250	Seizure	84668	HYCC1	OMIM:610532
HP:0001250	Seizure	1938	EEF2	ORPHA:101112
HP:0001250	Seizure	35	ACADS	OMIM:201470
HP:0001250	Seizure	35	ACADS	ORPHA:26792
HP:0001250	Seizure	145173	B3GLCT	OMIM:261540
HP:0001250	Seizure	29926	GMPPA	ORPHA:869
HP:0001250	Seizure	8086	AAAS	ORPHA:869
HP:0001250	Seizure	128240	NAXE	OMIM:617186
HP:0001250	Seizure	3198	HOXA1	OMIM:601536
HP:0001250	Seizure	539	ATP5PO	OMIM:620359
HP:0001250	Seizure	1650	DDOST	ORPHA:300536
HP:0001250	Seizure	51371	POMP	OMIM:618048
HP:0001250	Seizure	2733	GLE1	OMIM:611890
HP:0001250	Seizure	55005	RMND1	OMIM:614922
HP:0001250	Seizure	3295	HSD17B4	OMIM:261515
HP:0001250	Seizure	10295	BCKDK	OMIM:614923
HP:0001250	Seizure	124454	EARS2	OMIM:614924
HP:0001250	Seizure	55074	OXR1	OMIM:213000
HP:0001250	Seizure	5076	PAX2	OMIM:120330
HP:0001250	Seizure	11011	TLK2	OMIM:618050
HP:0001250	Seizure	27072	VPS41	OMIM:619389
HP:0001250	Seizure	9054	NFS1	OMIM:619386
HP:0001250	Seizure	161742	SPRED1	ORPHA:137605
HP:0001250	Seizure	11113	CIT	OMIM:617090
HP:0001250	Seizure	27183	VPS4A	OMIM:619273
HP:0001250	Seizure	10128	LRPPRC	OMIM:220111
HP:0001250	Seizure	10128	LRPPRC	ORPHA:70472
HP:0001250	Seizure	4570	MT-TN	OMIM:220110
HP:0001250	Seizure	10479	SLC9A6	OMIM:300243
HP:0001250	Seizure	9442	MED27	OMIM:619286
HP:0001250	Seizure	64601	VPS16	OMIM:619291
HP:0001250	Seizure	7084	TK2	OMIM:609560
HP:0001250	Seizure	22897	CEP164	OMIM:614845
HP:0001250	Seizure	36	ACADSB	OMIM:610006
HP:0001250	Seizure	7276	TTR	OMIM:105210
HP:0001250	Seizure	5095	PCCA	OMIM:606054
HP:0001250	Seizure	5096	PCCB	OMIM:606054
HP:0001250	Seizure	51199	NIN	OMIM:614851
HP:0001250	Seizure	51199	NIN	ORPHA:319675
HP:0001250	Seizure	65998	ZFTA	ORPHA:251636
HP:0001250	Seizure	5970	RELA	ORPHA:251636
HP:0001250	Seizure	22995	CEP152	OMIM:614852
HP:0001250	Seizure	4338	MOCS2	OMIM:252160
HP:0001250	Seizure	2752	GLUL	OMIM:610015
HP:0001250	Seizure	9255	AIMP1	OMIM:260600
HP:0001250	Seizure	11340	EXOSC8	ORPHA:2254
HP:0001250	Seizure	23287	AGTPBP1	ORPHA:2254
HP:0001250	Seizure	7443	VRK1	ORPHA:2254
HP:0001250	Seizure	91137	SLC25A46	ORPHA:2254
HP:0001250	Seizure	5297	PI4KA	ORPHA:98889
HP:0001250	Seizure	5297	PI4KA	OMIM:619708
HP:0001250	Seizure	3115	HLA-DPB1	ORPHA:900
HP:0001250	Seizure	5657	PRTN3	ORPHA:900
HP:0001250	Seizure	3113	HLA-DPA1	ORPHA:900
HP:0001250	Seizure	728294	D2HGDH	OMIM:600721
HP:0001250	Seizure	9095	TBX19	OMIM:201400
HP:0001250	Seizure	5230	PGK1	OMIM:300653
HP:0001250	Seizure	10165	SLC25A13	ORPHA:247585
HP:0001250	Seizure	50628	GEMIN4	OMIM:617913
HP:0001250	Seizure	51574	LARP7	ORPHA:319671
HP:0001250	Seizure	80025	PANK2	ORPHA:216866
HP:0001250	Seizure	3329	HSPD1	OMIM:612233
HP:0001250	Seizure	7507	XPA	ORPHA:910
HP:0001250	Seizure	2071	ERCC3	ORPHA:910
HP:0001250	Seizure	7508	XPC	ORPHA:910
HP:0001250	Seizure	1643	DDB2	ORPHA:910
HP:0001250	Seizure	9698	PUM1	OMIM:617931
HP:0001250	Seizure	6696	SPP1	ORPHA:93552
HP:0001250	Seizure	3654	IRAK1	ORPHA:93552
HP:0001250	Seizure	27249	MMADHC	OMIM:277410
HP:0001250	Seizure	27249	MMADHC	ORPHA:79283
HP:0001250	Seizure	55187	VPS13D	OMIM:607317
HP:0001250	Seizure	7280	TUBB2A	OMIM:615763
HP:0001250	Seizure	4953	ODC1	ORPHA:544488
HP:0001250	Seizure	2592	GALT	ORPHA:79239
HP:0001250	Seizure	9512	PMPCB	OMIM:617954
HP:0001250	Seizure	2058	EPRS1	OMIM:617951
HP:0001250	Seizure	11280	SCN11A	ORPHA:46348
HP:0001250	Seizure	20	ABCA2	OMIM:618808
HP:0001250	Seizure	54664	TMEM106B	OMIM:617964
HP:0001250	Seizure	84818	IL17RC	ORPHA:1334
HP:0001250	Seizure	64581	CLEC7A	ORPHA:1334
HP:0001250	Seizure	23765	IL17RA	ORPHA:1334
HP:0001250	Seizure	10758	TRAF3IP2	ORPHA:1334
HP:0001250	Seizure	112744	IL17F	ORPHA:1334
HP:0001250	Seizure	54658	UGT1A1	ORPHA:79234
HP:0001250	Seizure	2584	GALK1	ORPHA:79237
HP:0001250	Seizure	11019	LIAS	OMIM:614462
HP:0001250	Seizure	4337	MOCS1	OMIM:252150
HP:0001250	Seizure	56270	WDR45B	OMIM:617977
HP:0001250	Seizure	22934	RPIA	OMIM:608611
HP:0001250	Seizure	8405	SPOP	OMIM:618829
HP:0001250	Seizure	25915	NDUFAF3	ORPHA:70474
HP:0001250	Seizure	9997	SCO2	ORPHA:70474
HP:0001250	Seizure	5162	PDHB	ORPHA:255138
HP:0001250	Seizure	23310	NCAPD3	OMIM:617984
HP:0001250	Seizure	6509	SLC1A4	OMIM:616657
HP:0001250	Seizure	126792	B3GALT6	ORPHA:536467
HP:0001250	Seizure	529	ATP6V1E1	ORPHA:357074
HP:0001250	Seizure	200205	IBA57	OMIM:615330
HP:0001250	Seizure	51780	KDM3B	OMIM:618846
HP:0001250	Seizure	5116	PCNT	ORPHA:2637
HP:0001250	Seizure	25974	MMACHC	ORPHA:79282
HP:0001250	Seizure	25974	MMACHC	OMIM:277400
HP:0001250	Seizure	63929	XPNPEP3	OMIM:613159
HP:0001250	Seizure	55788	LMBRD1	ORPHA:79284
HP:0001250	Seizure	57731	SPTBN4	OMIM:617519
HP:0001250	Seizure	1807	DPYS	OMIM:222748
HP:0001250	Seizure	846	CASR	OMIM:601198
HP:0001250	Seizure	9130	FAM50A	OMIM:300261
HP:0001250	Seizure	18	ABAT	OMIM:613163
HP:0001250	Seizure	8738	CRADD	OMIM:614499
HP:0001250	Seizure	4858	NOVA2	OMIM:618859
HP:0001250	Seizure	22868	FASTKD2	OMIM:618855
HP:0001250	Seizure	1371	CPOX	ORPHA:79273
HP:0001250	Seizure	5052	PRDX1	OMIM:277400
HP:0001250	Seizure	55901	THSD1	ORPHA:231160
HP:0001250	Seizure	7049	TGFBR3	ORPHA:231160
HP:0001250	Seizure	83854	ANGPTL6	ORPHA:231160
HP:0001250	Seizure	81555	YIPF5	OMIM:619278
HP:0001250	Seizure	2997	GYS1	OMIM:611556
HP:0001250	Seizure	4511	MT-TC	OMIM:540000
HP:0001250	Seizure	1757	SARDH	ORPHA:3129
HP:0001250	Seizure	10087	CERT1	OMIM:616351
HP:0001250	Seizure	10715	CERS1	OMIM:616230
HP:0001250	Seizure	84138	SLC7A6OS	OMIM:619191
HP:0001250	Seizure	9354	UBE4A	OMIM:619639
HP:0001250	Seizure	7701	ZNF142	OMIM:618425
HP:0001250	Seizure	51611	DPH5	OMIM:620070
HP:0001250	Seizure	8218	CLTCL1	ORPHA:453510
HP:0001250	Seizure	2742	GLRA2	OMIM:301076
HP:0001250	Seizure	4967	OGDH	OMIM:203740
HP:0001250	Seizure	29078	NDUFAF4	OMIM:618237
HP:0001250	Seizure	6301	SARS1	OMIM:617709
HP:0001250	Seizure	513	ATP5F1D	OMIM:618120
HP:0001250	Seizure	3746	KCNC1	OMIM:616187
HP:0001250	Seizure	3431	SP110	ORPHA:79124
HP:0001250	Seizure	6821	SUOX	OMIM:272300
HP:0001250	Seizure	208	AKT2	OMIM:240900
HP:0001250	Seizure	60386	SLC25A19	ORPHA:99742
HP:0001250	Seizure	10771	ZMYND11	OMIM:616083
HP:0001250	Seizure	37	ACADVL	OMIM:201475
HP:0001250	Seizure	5281	PIGF	OMIM:619356
HP:0001250	Seizure	56910	STARD7	OMIM:607876
HP:0001250	Seizure	122553	TRAPPC6B	OMIM:617862
HP:0001250	Seizure	10319	LAMC3	OMIM:614115
HP:0001250	Seizure	54676	GTPBP2	OMIM:617988
HP:0001250	Seizure	4750	NEK1	ORPHA:2751
HP:0001250	Seizure	25978	CHMP2B	ORPHA:275864
HP:0001250	Seizure	8878	SQSTM1	ORPHA:275864
HP:0001250	Seizure	4137	MAPT	ORPHA:275864
HP:0001250	Seizure	7415	VCP	ORPHA:275864
HP:0001250	Seizure	84706	GPT2	OMIM:616281
HP:0001250	Seizure	4791	NFKB2	ORPHA:293978
HP:0001250	Seizure	26960	NBEA	OMIM:619157
HP:0001250	Seizure	8733	GPAA1	OMIM:617810
HP:0001250	Seizure	11133	KPTN	OMIM:615637
HP:0001250	Seizure	781	CACNA2D1	OMIM:620149
HP:0001250	Seizure	8629	JRK	ORPHA:307
HP:0001250	Seizure	80232	WDR26	ORPHA:513456
HP:0001250	Seizure	54344	DPM3	OMIM:618992
HP:0001250	Seizure	5515	PPP2CA	OMIM:618354
HP:0001250	Seizure	24137	KIF4A	OMIM:300923
HP:0001250	Seizure	6096	RORB	OMIM:618357
HP:0001250	Seizure	7532	YWHAG	OMIM:617665
HP:0001250	Seizure	80055	PGAP1	OMIM:615802
HP:0001250	Seizure	1476	CSTB	OMIM:254800
HP:0001250	Seizure	3908	LAMA2	ORPHA:258
HP:0001250	Seizure	347733	TUBB2B	ORPHA:467166
HP:0001250	Seizure	7846	TUBA1A	ORPHA:467166
HP:0001250	Seizure	10381	TUBB3	ORPHA:467166
HP:0001250	Seizure	6609	SMPD1	ORPHA:77293
HP:0001250	Seizure	3899	AFF3	OMIM:619297
HP:0001250	Seizure	80224	NUBPL	OMIM:618242
HP:0001250	Seizure	79029	AFG2B	OMIM:619616
HP:0001250	Seizure	815	CAMK2A	OMIM:617798
HP:0001250	Seizure	2664	GDI1	OMIM:300849
HP:0001250	Seizure	27315	PGAP2	OMIM:614207
HP:0001250	Seizure	84188	FAR1	OMIM:619338
HP:0001250	Seizure	9570	GOSR2	OMIM:620166
HP:0001250	Seizure	9570	GOSR2	OMIM:614018
HP:0001250	Seizure	23327	NEDD4L	OMIM:617201
HP:0001250	Seizure	4915	NTRK2	OMIM:613886
HP:0001250	Seizure	1954	MEGF8	OMIM:614976
HP:0001250	Seizure	2746	GLUD1	ORPHA:35878
HP:0001250	Seizure	5063	PAK3	OMIM:300558
HP:0001250	Seizure	23443	SLC35A3	OMIM:615553
HP:0001250	Seizure	23443	SLC35A3	ORPHA:370943
HP:0001250	Seizure	80036	TRPM3	OMIM:620224
HP:0001250	Seizure	57459	GATAD2B	ORPHA:363686
HP:0001250	Seizure	55210	ATAD3A	OMIM:617183
HP:0001250	Seizure	10472	ZBTB18	OMIM:612337
HP:0001250	Seizure	6651	SON	ORPHA:500150
HP:0001250	Seizure	2146	EZH2	OMIM:277590
HP:0001250	Seizure	1719	DHFR	OMIM:613839
HP:0001250	Seizure	1893	ECM1	OMIM:247100
HP:0001250	Seizure	8621	CDK13	OMIM:617360
HP:0001250	Seizure	93183	PIGM	OMIM:610293
HP:0001250	Seizure	93587	TRMT10A	OMIM:616033
HP:0001250	Seizure	2702	GJA5	OMIM:612474
HP:0001250	Seizure	2703	GJA8	OMIM:612474
HP:0001250	Seizure	3736	KCNA1	ORPHA:1934
HP:0001250	Seizure	8573	CASK	ORPHA:1934
HP:0001250	Seizure	2917	GRM7	ORPHA:1934
HP:0001250	Seizure	11284	PNKP	ORPHA:1934
HP:0001250	Seizure	51227	PIGP	ORPHA:1934
HP:0001250	Seizure	4761	NEUROD2	ORPHA:1934
HP:0001250	Seizure	401474	SAMD12	OMIM:601068
HP:0001250	Seizure	4558	MT-TF	ORPHA:551
HP:0001250	Seizure	4558	MT-TF	OMIM:545000
HP:0001250	Seizure	4567	MT-TL1	ORPHA:551
HP:0001250	Seizure	4567	MT-TL1	ORPHA:255210
HP:0001250	Seizure	4567	MT-TL1	OMIM:545000
HP:0001250	Seizure	4549	MT-RNR1	ORPHA:551
HP:0001250	Seizure	4574	MT-TS1	ORPHA:551
HP:0001250	Seizure	4575	MT-TS2	ORPHA:551
HP:0001250	Seizure	4571	MT-TP	ORPHA:551
HP:0001250	Seizure	4571	MT-TP	OMIM:545000
HP:0001250	Seizure	4572	MT-TQ	ORPHA:551
HP:0001250	Seizure	4540	MT-ND5	ORPHA:551
HP:0001250	Seizure	4540	MT-ND5	ORPHA:255210
HP:0001250	Seizure	4566	MT-TK	ORPHA:551
HP:0001250	Seizure	4566	MT-TK	ORPHA:255210
HP:0001250	Seizure	4566	MT-TK	OMIM:545000
HP:0001250	Seizure	4564	MT-TH	ORPHA:551
HP:0001250	Seizure	7915	ALDH5A1	ORPHA:22
HP:0001250	Seizure	7915	ALDH5A1	OMIM:271980
HP:0001250	Seizure	4524	MTHFR	ORPHA:395
HP:0001250	Seizure	57468	SLC12A5	OMIM:616685
HP:0001250	Seizure	1859	DYRK1A	ORPHA:268261
HP:0001250	Seizure	8818	DPM2	ORPHA:329178
HP:0001250	Seizure	2720	GLB1	OMIM:230600
HP:0001250	Seizure	2896	GRN	OMIM:614706
HP:0001250	Seizure	170302	ARX	OMIM:308350
HP:0001250	Seizure	4758	NEU1	ORPHA:93399
HP:0001250	Seizure	4535	MT-ND1	ORPHA:255210
HP:0001250	Seizure	4536	MT-ND2	ORPHA:255210
HP:0001250	Seizure	4537	MT-ND3	ORPHA:255210
HP:0001250	Seizure	4538	MT-ND4	ORPHA:255210
HP:0001250	Seizure	4578	MT-TW	ORPHA:255210
HP:0001250	Seizure	4577	MT-TV	ORPHA:255210
HP:0001250	Seizure	4508	MT-ATP6	ORPHA:255210
HP:0001250	Seizure	4541	MT-ND6	ORPHA:255210
HP:0001250	Seizure	22854	NTNG1	ORPHA:3095
HP:0001250	Seizure	4204	MECP2	ORPHA:3095
HP:0001250	Seizure	55768	NGLY1	ORPHA:404454
HP:0001250	Seizure	54820	NDE1	OMIM:605013
HP:0001250	Seizure	3767	KCNJ11	ORPHA:99885
HP:0001250	Seizure	6774	STAT3	ORPHA:99885
HP:0001250	Seizure	2645	GCK	ORPHA:99885
HP:0001250	Seizure	3651	PDX1	ORPHA:99885
HP:0001250	Seizure	6833	ABCC8	ORPHA:99885
HP:0001250	Seizure	3630	INS	ORPHA:99885
HP:0001250	Seizure	154881	KCTD7	OMIM:611726
HP:0001250	Seizure	10166	SLC25A15	ORPHA:415
HP:0001250	Seizure	10166	SLC25A15	OMIM:238970
HP:0001250	Seizure	427	ASAH1	OMIM:159950
HP:0001250	Seizure	427	ASAH1	ORPHA:2590
HP:0001250	Seizure	4694	NDUFA1	OMIM:301020
HP:0001250	Seizure	150094	SIK1	OMIM:616341
HP:0001250	Seizure	150094	SIK1	ORPHA:1935
HP:0001250	Seizure	79947	DHDDS	OMIM:617836
HP:0001250	Seizure	686	BTD	ORPHA:79241
HP:0001250	Seizure	10939	AFG3L2	ORPHA:313772
HP:0001250	Seizure	10939	AFG3L2	OMIM:614487
HP:0001250	Seizure	57531	HACE1	ORPHA:464282
HP:0001250	Seizure	57531	HACE1	OMIM:616756
HP:0001250	Seizure	80856	LNPK	OMIM:618090
HP:0001250	Seizure	51651	PTRH2	ORPHA:456312
HP:0001250	Seizure	4565	MT-TI	OMIM:545000
HP:0001250	Seizure	5277	PIGA	OMIM:300868
HP:0001250	Seizure	83696	TRAPPC9	ORPHA:352530
HP:0001250	Seizure	6785	ELOVL4	OMIM:614457
HP:0001250	Seizure	144165	PRICKLE1	OMIM:612437
HP:0001250	Seizure	2629	GBA1	OMIM:231000
HP:0001250	Seizure	2629	GBA1	ORPHA:2072
HP:0001250	Seizure	2629	GBA1	ORPHA:77261
HP:0001250	Seizure	2629	GBA1	ORPHA:77260
HP:0001250	Seizure	6611	SMS	ORPHA:3063
HP:0001250	Seizure	57061	HYMAI	ORPHA:96191
HP:0001250	Seizure	5325	PLAGL1	ORPHA:96191
HP:0001250	Seizure	56978	PRDM8	OMIM:616640
HP:0001250	Seizure	51604	PIGT	ORPHA:369837
HP:0001250	Seizure	79751	SLC25A22	OMIM:609304
HP:0001250	Seizure	79751	SLC25A22	ORPHA:1935
HP:0001250	Seizure	5293	PIK3CD	ORPHA:221139
HP:0001250	Seizure	5293	PIK3CD	OMIM:613328
HP:0001250	Seizure	90417	KNSTRN	ORPHA:221139
HP:0001250	Seizure	90417	KNSTRN	OMIM:613328
HP:0001250	Seizure	9289	ADGRG1	ORPHA:101070
HP:0001250	Seizure	5728	PTEN	ORPHA:101070
HP:0001250	Seizure	51124	IER3IP1	OMIM:614231
HP:0001250	Seizure	10991	SLC38A3	OMIM:619881
HP:0001250	Seizure	79143	MBOAT7	OMIM:617188
HP:0001250	Seizure	283989	TSEN54	ORPHA:2524
HP:0001250	Seizure	116461	TSEN15	ORPHA:2524
HP:0001250	Seizure	79042	TSEN34	ORPHA:2524
HP:0001250	Seizure	80746	TSEN2	ORPHA:2524
HP:0001250	Seizure	51091	SEPSECS	ORPHA:2524
HP:0001250	Seizure	256471	MFSD8	OMIM:610951
HP:0001250	Seizure	114327	EFHC1	OMIM:607631
HP:0001250	Seizure	1181	CLCN2	OMIM:607628
HP:0001250	Seizure	54802	TRIT1	OMIM:617873
HP:0001250	Seizure	84823	LMNB2	OMIM:616540
HP:0001250	Seizure	6389	SDHA	ORPHA:3208
HP:0001250	Seizure	6390	SDHB	ORPHA:3208
HP:0001250	Seizure	6392	SDHD	ORPHA:3208
HP:0001250	Seizure	644096	SDHAF1	ORPHA:3208
HP:0001250	Seizure	2581	GALC	ORPHA:206436
HP:0001250	Seizure	5660	PSAP	ORPHA:206436
HP:0001250	Seizure	8813	DPM1	ORPHA:79322
HP:0001250	Seizure	701	BUB1B	OMIM:257300
HP:0001250	Seizure	22858	CILK1	OMIM:617924
HP:0001250	Seizure	4702	NDUFA8	OMIM:619272
HP:0001250	Seizure	10785	WDR4	OMIM:618346
HP:0001250	Seizure	23600	AMACR	OMIM:614307
HP:0001250	Seizure	26580	BSCL2	ORPHA:363400
HP:0001250	Seizure	5859	QARS1	OMIM:615760
HP:0001250	Seizure	51741	WWOX	OMIM:616211
HP:0001250	Seizure	51741	WWOX	ORPHA:442835
HP:0001250	Seizure	1352	COX10	OMIM:619046
HP:0001250	Seizure	1841	DTYMK	OMIM:619847
HP:0001250	Seizure	790	CAD	OMIM:616457
HP:0001250	Seizure	55163	PNPO	ORPHA:79096
HP:0001250	Seizure	129563	DIS3L2	ORPHA:2849
HP:0001250	Seizure	8869	ST3GAL5	OMIM:609056
HP:0001250	Seizure	27235	COQ2	OMIM:607426
HP:0001250	Seizure	23221	RHOBTB2	OMIM:618004
HP:0001250	Seizure	100131801	PET100	OMIM:619055
HP:0001250	Seizure	8120	AP3B2	OMIM:617276
HP:0001250	Seizure	8120	AP3B2	ORPHA:442835
HP:0001250	Seizure	1889	ECE1	OMIM:613870
HP:0001250	Seizure	23545	ATP6V0A2	ORPHA:2834
HP:0001250	Seizure	1509	CTSD	OMIM:610127
HP:0001250	Seizure	51608	GET4	OMIM:620200
HP:0001250	Seizure	54539	NDUFB11	ORPHA:2556
HP:0001250	Seizure	1349	COX7B	ORPHA:2556
HP:0001250	Seizure	3052	HCCS	ORPHA:2556
HP:0001250	Seizure	8604	SLC25A12	OMIM:612949
HP:0001250	Seizure	84342	COG8	OMIM:611182
HP:0001250	Seizure	833	CARS1	OMIM:618891
HP:0001250	Seizure	4700	NDUFA6	OMIM:618253
HP:0001250	Seizure	2257	FGF12	OMIM:617166
HP:0001250	Seizure	2257	FGF12	ORPHA:442835
HP:0001250	Seizure	128637	TBC1D20	OMIM:615663
HP:0001250	Seizure	84300	UQCC2	OMIM:615824
HP:0001250	Seizure	79731	NARS2	OMIM:616239
HP:0001250	Seizure	3737	KCNA2	ORPHA:442835
HP:0001250	Seizure	51343	FZR1	ORPHA:442835
HP:0001250	Seizure	22906	TRAK1	ORPHA:442835
HP:0001250	Seizure	22906	TRAK1	OMIM:618201
HP:0001250	Seizure	2561	GABRB2	ORPHA:442835
HP:0001250	Seizure	79876	UBA5	ORPHA:442835
HP:0001250	Seizure	2558	GABRA5	ORPHA:442835
HP:0001250	Seizure	2558	GABRA5	OMIM:618559
HP:0001250	Seizure	2906	GRIN2D	ORPHA:442835
HP:0001250	Seizure	1213	CLTC	ORPHA:442835
HP:0001250	Seizure	51412	ACTL6B	ORPHA:442835
HP:0001250	Seizure	16	AARS1	ORPHA:442835
HP:0001250	Seizure	22866	CNKSR2	ORPHA:442835
HP:0001250	Seizure	2555	GABRA2	ORPHA:442835
HP:0001250	Seizure	2555	GABRA2	OMIM:618557
HP:0001250	Seizure	55152	DALRD3	ORPHA:442835
HP:0001250	Seizure	26999	CYFIP2	ORPHA:442835
HP:0001250	Seizure	25973	PARS2	ORPHA:442835
HP:0001250	Seizure	23097	CDK19	ORPHA:442835
HP:0001250	Seizure	10522	DEAF1	OMIM:617171
HP:0001250	Seizure	10522	DEAF1	ORPHA:468620
HP:0001250	Seizure	2892	GRIA3	ORPHA:364028
HP:0001250	Seizure	10367	MICU1	OMIM:615673
HP:0001250	Seizure	3704	ITPA	OMIM:616647
HP:0001250	Seizure	6507	SLC1A3	ORPHA:2131
HP:0001250	Seizure	8659	ALDH4A1	ORPHA:79101
HP:0001250	Seizure	283209	PGM2L1	OMIM:620191
HP:0001250	Seizure	1718	DHCR24	ORPHA:35107
HP:0001250	Seizure	8915	BCL10	OMIM:616098
HP:0001250	Seizure	50485	SMARCAL1	ORPHA:1830
HP:0001250	Seizure	2893	GRIA4	OMIM:617864
HP:0001250	Seizure	3832	KIF11	ORPHA:2526
HP:0001250	Seizure	55704	CCDC88A	OMIM:617507
HP:0001250	Seizure	476	ATP1A1	OMIM:618314
HP:0001250	Seizure	476	ATP1A1	ORPHA:564178
HP:0001250	Seizure	5625	PRODH	OMIM:239500
HP:0001250	Seizure	2271	FH	OMIM:606812
HP:0001250	Seizure	9922	IQSEC1	OMIM:618687
HP:0001250	Seizure	777	CACNA1E	OMIM:618285
HP:0001250	Seizure	738	VPS51	OMIM:618606
HP:0001250	Seizure	374969	SVBP	OMIM:618569
HP:0001250	Seizure	80704	SLC19A3	ORPHA:263410
HP:0001250	Seizure	51733	UPB1	OMIM:613161
HP:0001250	Seizure	50484	RRM2B	OMIM:612075
HP:0001250	Seizure	51693	TRAPPC2L	OMIM:618331
HP:0001250	Seizure	55753	OGDHL	OMIM:619701
HP:0001250	Seizure	7407	VARS1	OMIM:617802
HP:0001250	Seizure	7351	UCP2	ORPHA:276556
HP:0001250	Seizure	56246	MRAP	ORPHA:361
HP:0001250	Seizure	6770	STAR	ORPHA:361
HP:0001250	Seizure	10587	TXNRD2	ORPHA:361
HP:0001250	Seizure	5443	POMC	OMIM:609734
HP:0001250	Seizure	5443	POMC	ORPHA:71526
HP:0001250	Seizure	6927	HNF1A	ORPHA:324575
HP:0001250	Seizure	3033	HADH	OMIM:231530
HP:0001250	Seizure	3033	HADH	ORPHA:71212
HP:0001250	Seizure	3033	HADH	OMIM:609975
HP:0001250	Seizure	5122	PCSK1	ORPHA:71528
HP:0001250	Seizure	6566	SLC16A1	OMIM:610021
HP:0001250	Seizure	55186	SLC25A36	OMIM:620211
HP:0001250	Seizure	2542	SLC37A4	ORPHA:79259
HP:0001250	Seizure	2982	GUCY1A1	OMIM:615750
HP:0001250	Seizure	2512	FTL	OMIM:615604
HP:0001250	Seizure	55129	ANO10	ORPHA:284289
HP:0001250	Seizure	23162	MAPK8IP3	OMIM:618443
HP:0001250	Seizure	8565	YARS1	OMIM:619418
HP:0001250	Seizure	404672	GTF2H5	ORPHA:33364
HP:0001250	Seizure	7737	RNF113A	ORPHA:33364
HP:0001250	Seizure	136647	MPLKIP	ORPHA:33364
HP:0001250	Seizure	6897	TARS1	ORPHA:33364
HP:0001250	Seizure	2961	GTF2E2	ORPHA:33364
HP:0001250	Seizure	950	SCARB2	OMIM:254900
HP:0001250	Seizure	9230	RAB11B	OMIM:617807
HP:0001250	Seizure	9247	GCM2	OMIM:618883
HP:0001250	Seizure	9247	GCM2	ORPHA:2239
HP:0001250	Seizure	1594	CYP27B1	OMIM:264700
HP:0001250	Seizure	1594	CYP27B1	ORPHA:289157
HP:0001250	Seizure	120227	CYP2R1	ORPHA:289157
HP:0001250	Seizure	2625	GATA3	ORPHA:2237
HP:0001250	Seizure	7421	VDR	OMIM:277440
HP:0001250	Seizure	5741	PTH	OMIM:146200
HP:0001250	Seizure	8792	TNFRSF11A	OMIM:612301
HP:0001250	Seizure	8675	STX16	ORPHA:94089
HP:0001250	Seizure	50801	KCNK4	OMIM:618381
HP:0001250	Seizure	8504	PEX3	OMIM:617370
HP:0001250	Seizure	5649	RELN	OMIM:600512
HP:0001250	Seizure	64780	MICAL1	OMIM:600512
HP:0001250	Seizure	9211	LGI1	OMIM:600512
HP:0001250	Seizure	3785	KCNQ2	ORPHA:1949
HP:0001250	Seizure	3785	KCNQ2	ORPHA:306
HP:0001250	Seizure	3785	KCNQ2	OMIM:121200
HP:0001250	Seizure	3786	KCNQ3	ORPHA:1949
HP:0001250	Seizure	3786	KCNQ3	ORPHA:306
HP:0001250	Seizure	3786	KCNQ3	OMIM:121201
HP:0001250	Seizure	23312	DMXL2	OMIM:618663
HP:0001250	Seizure	132158	GLYCTK	OMIM:220120
HP:0001250	Seizure	23241	PACS2	OMIM:618067
HP:0001250	Seizure	6487	ST3GAL3	OMIM:615006
HP:0001250	Seizure	51294	PCDH12	OMIM:251280
HP:0001250	Seizure	53616	ADAM22	OMIM:617933
HP:0001250	Seizure	55325	UFSP2	OMIM:620028
HP:0001250	Seizure	23732	FRRS1L	ORPHA:725
HP:0001250	Seizure	2903	GRIN2A	ORPHA:725
HP:0001250	Seizure	6334	SCN8A	ORPHA:306
HP:0001250	Seizure	6326	SCN2A	ORPHA:306
HP:0001250	Seizure	112476	PRRT2	ORPHA:306
HP:0001250	Seizure	9568	GABBR2	OMIM:617904
HP:0001250	Seizure	11160	ERLIN2	ORPHA:280384
HP:0001250	Seizure	8912	CACNA1H	ORPHA:64280
HP:0001250	Seizure	6134	RPL10	OMIM:300998
HP:0001250	Seizure	6134	RPL10	ORPHA:459070
HP:0001250	Seizure	351	APP	ORPHA:324723
HP:0001250	Seizure	23446	SLC44A1	OMIM:618868
HP:0001250	Seizure	4598	MVK	OMIM:260920
HP:0001250	Seizure	8924	HERC2	OMIM:615516
HP:0001250	Seizure	1788	DNMT3A	OMIM:615879
HP:0001250	Seizure	55209	SETD5	ORPHA:404440
HP:0001250	Seizure	5745	PTH1R	OMIM:600002
HP:0001250	Seizure	4784	NFIX	ORPHA:447980
HP:0001250	Seizure	51111	KMT5B	OMIM:617788
HP:0001250	Seizure	5184	PEPD	OMIM:170100
HP:0001250	Seizure	90161	HS6ST2	OMIM:301025
HP:0001250	Seizure	55777	MBD5	OMIM:156200
HP:0001250	Seizure	4001	LMNB1	OMIM:619179
HP:0001250	Seizure	51319	RSRC1	OMIM:618402
HP:0001250	Seizure	7920	ABHD16A	OMIM:619735
HP:0001250	Seizure	549	AUH	OMIM:250950
HP:0001250	Seizure	2744	GLS	OMIM:618412
HP:0001250	Seizure	23314	SATB2	OMIM:612313
HP:0001250	Seizure	55623	THUMPD1	OMIM:619989
HP:0001250	Seizure	610	HCN2	OMIM:602477
HP:0001250	Seizure	11154	AP4S1	OMIM:614067
HP:0001250	Seizure	64849	SLC13A3	OMIM:618384
HP:0001250	Seizure	55343	SLC35C1	OMIM:266265
HP:0001250	Seizure	10236	HNRNPR	OMIM:620073
HP:0001250	Seizure	4094	MAF	ORPHA:1272
HP:0001250	Seizure	1806	DPYD	ORPHA:1675
HP:0001250	Seizure	55717	WDR11	OMIM:620237
HP:0001250	Seizure	55252	ASXL2	OMIM:617190
HP:0001250	Seizure	34	ACADM	ORPHA:42
HP:0001250	Seizure	23219	FBXO28	OMIM:619777
HP:0001250	Seizure	284361	EMC10	OMIM:619264
HP:0001250	Seizure	3763	KCNJ6	OMIM:614098
HP:0001250	Seizure	6323	SCN1A	OMIM:607208
HP:0001250	Seizure	6323	SCN1A	ORPHA:36387
HP:0001250	Seizure	6323	SCN1A	ORPHA:33069
HP:0001250	Seizure	10059	DNM1L	ORPHA:330050
HP:0001250	Seizure	2775	GNAO1	OMIM:617493
HP:0001250	Seizure	1173	AP2M1	OMIM:618587
HP:0001250	Seizure	1183	CLCN4	OMIM:300114
HP:0001250	Seizure	1183	CLCN4	ORPHA:485350
HP:0001250	Seizure	23019	CNOT1	OMIM:618500
HP:0001250	Seizure	55823	VPS11	OMIM:616683
HP:0001250	Seizure	23135	KDM6B	OMIM:618505
HP:0001250	Seizure	2904	GRIN2B	OMIM:613970
HP:0001250	Seizure	92335	STRADA	ORPHA:500533
HP:0001250	Seizure	6328	SCN3A	OMIM:617935
HP:0001250	Seizure	8496	PPFIBP1	OMIM:620024
HP:0001250	Seizure	23126	POGZ	ORPHA:468678
HP:0001250	Seizure	23126	POGZ	OMIM:616364
HP:0001250	Seizure	64324	NSD1	ORPHA:821
HP:0001250	Seizure	29072	SETD2	ORPHA:821
HP:0001250	Seizure	10297	APC2	ORPHA:821
HP:0001250	Seizure	2258	FGF13	OMIM:301058
HP:0001250	Seizure	57165	GJC2	OMIM:608804
HP:0001250	Seizure	2593	GAMT	ORPHA:382
HP:0001250	Seizure	387119	CEP85L	OMIM:618873
HP:0001250	Seizure	112755	STX1B	OMIM:616172
HP:0001250	Seizure	112755	STX1B	ORPHA:36387
HP:0001250	Seizure	3745	KCNB1	OMIM:616056
HP:0001250	Seizure	2782	GNB1	ORPHA:488613
HP:0001250	Seizure	2782	GNB1	OMIM:616973
HP:0001250	Seizure	478	ATP1A3	OMIM:619606
HP:0001250	Seizure	6900	CNTN2	OMIM:615400
HP:0001250	Seizure	4041	LRP5	OMIM:259770
HP:0001250	Seizure	51083	GAL	OMIM:616461
HP:0001250	Seizure	535	ATP6V0A1	OMIM:619970
HP:0001250	Seizure	816	CAMK2B	OMIM:617799
HP:0001250	Seizure	23229	ARHGEF9	ORPHA:163985
HP:0001250	Seizure	23229	ARHGEF9	OMIM:300607
HP:0001250	Seizure	116150	NUS1	OMIM:617831
HP:0001250	Seizure	1759	DNM1	OMIM:616346
HP:0001250	Seizure	3064	HTT	OMIM:617435
HP:0001250	Seizure	267010	RNU12	OMIM:620208
HP:0001250	Seizure	2770	GNAI1	OMIM:619854
HP:0001250	Seizure	2055	CLN8	OMIM:610003
HP:0001250	Seizure	2055	CLN8	ORPHA:1947
HP:0001250	Seizure	1000	CDH2	OMIM:618929
HP:0001250	Seizure	128989	TANGO2	ORPHA:480864
HP:0001250	Seizure	8131	NPRL3	ORPHA:98820
HP:0001250	Seizure	10641	NPRL2	ORPHA:98820
HP:0001250	Seizure	9681	DEPDC5	ORPHA:98820
HP:0001250	Seizure	2898	GRIK2	OMIM:619580
HP:0001250	Seizure	56776	FMN2	OMIM:616193
HP:0001250	Seizure	283987	HID1	OMIM:619983
HP:0001250	Seizure	776	CACNA1D	ORPHA:369929
HP:0001250	Seizure	56479	KCNQ5	OMIM:617601
HP:0001250	Seizure	23152	CIC	OMIM:617600
HP:0001250	Seizure	2783	GNB2	OMIM:619503
HP:0001250	Seizure	9419	CRIPT	OMIM:615789
HP:0001250	Seizure	6335	SCN9A	ORPHA:36387
HP:0001250	Seizure	6335	SCN9A	ORPHA:33069
HP:0001250	Seizure	2563	GABRD	ORPHA:36387
HP:0001250	Seizure	6324	SCN1B	ORPHA:36387
HP:0001250	Seizure	6324	SCN1B	ORPHA:33069
HP:0001250	Seizure	348980	HCN1	ORPHA:36387
HP:0001250	Seizure	84059	ADGRV1	ORPHA:36387
HP:0001250	Seizure	2566	GABRG2	ORPHA:36387
HP:0001250	Seizure	2566	GABRG2	ORPHA:33069
HP:0001250	Seizure	2566	GABRG2	OMIM:618396
HP:0001250	Seizure	2261	FGFR3	OMIM:616482
HP:0001250	Seizure	3747	KCNC2	OMIM:619913
HP:0001250	Seizure	23040	MYT1L	OMIM:616521
HP:0001250	Seizure	4983	OPHN1	ORPHA:137831
HP:0001250	Seizure	85440	DOCK7	ORPHA:411986
HP:0001250	Seizure	85440	DOCK7	OMIM:615859
HP:0001250	Seizure	2554	GABRA1	ORPHA:33069
HP:0001250	Seizure	2554	GABRA1	OMIM:615744
HP:0001250	Seizure	57526	PCDH19	ORPHA:33069
HP:0001250	Seizure	378884	NHLRC1	ORPHA:501
HP:0001250	Seizure	7957	EPM2A	ORPHA:501
HP:0001250	Seizure	526	ATP6V1B2	ORPHA:79500
HP:0001250	Seizure	57465	TBC1D24	ORPHA:79500
HP:0001250	Seizure	11198	SUPT16H	OMIM:619480
HP:0001250	Seizure	25814	ATXN10	ORPHA:98761
HP:0001250	Seizure	5138	PDE2A	ORPHA:31709
HP:0001250	Seizure	57169	ZNFX1	OMIM:619644
HP:0001250	Seizure	9896	FIG4	OMIM:612691
HP:0001250	Seizure	9896	FIG4	ORPHA:208441
HP:0001250	Seizure	773	CACNA1A	OMIM:617106
HP:0001250	Seizure	163175	LGI4	OMIM:617468
HP:0001250	Seizure	3708	ITPR1	OMIM:117360
HP:0001250	Seizure	23031	MAST3	OMIM:620115
HP:0001250	Seizure	2556	GABRA3	OMIM:301091
HP:0001250	Seizure	57020	VPS35L	OMIM:619135
HP:0001250	Seizure	26047	CNTNAP2	OMIM:610042
HP:0001250	Seizure	23499	MACF1	OMIM:618325
HP:0001250	Seizure	5048	PAFAH1B1	ORPHA:95232
HP:0001250	Seizure	7248	TSC1	OMIM:607341
HP:0001250	Seizure	7249	TSC2	OMIM:607341
HP:0001250	Seizure	2475	MTOR	OMIM:607341
HP:0001250	Seizure	197322	ACSF3	ORPHA:289504
HP:0001250	Seizure	7040	TGFB1	OMIM:618213
HP:0001250	Seizure	2902	GRIN1	OMIM:614254
HP:0001250	Seizure	221927	BRAT1	OMIM:618056
HP:0001250	Seizure	81603	TRIM8	OMIM:619428
HP:0001250	Seizure	10695	CNPY3	OMIM:617929
HP:0001250	Seizure	57094	CPA6	OMIM:614417
HP:0001250	Seizure	57094	CPA6	OMIM:614418
HP:0001250	Seizure	50640	PNPLA8	OMIM:251950
HP:0001250	Seizure	8085	KMT2D	OMIM:147920
HP:0001250	Seizure	7403	KDM6A	OMIM:147920
HP:0001250	Seizure	7187	TRAF3	ORPHA:1930
HP:0001250	Seizure	81622	UNC93B1	ORPHA:1930
HP:0001250	Seizure	148022	TICAM1	ORPHA:1930
HP:0001250	Seizure	7098	TLR3	ORPHA:1930
HP:0001250	Seizure	29110	TBK1	ORPHA:1930
HP:0001250	Seizure	7337	UBE3A	ORPHA:98795
HP:0001250	Seizure	3192	HNRNPU	OMIM:617391
HP:0001250	Seizure	2562	GABRB3	OMIM:617113
HP:0001250	Seizure	2562	GABRB3	ORPHA:2382
HP:0001250	Seizure	23334	SZT2	OMIM:615476
HP:0001250	Seizure	785	CACNB4	OMIM:613855
HP:0001250	Seizure	785	CACNB4	OMIM:607682
HP:0001250	Seizure	81570	CLPB	OMIM:619835
HP:0001250	Seizure	27286	SRPX2	ORPHA:1945
HP:0001250	Seizure	9839	ZEB2	ORPHA:261537
HP:0001250	Seizure	9839	ZEB2	ORPHA:261552
HP:0001250	Seizure	3778	KCNMA1	OMIM:618596
HP:0001250	Seizure	5602	MAPK10	ORPHA:2382
HP:0001250	Seizure	23316	CUX2	ORPHA:2382
HP:0001250	Seizure	6584	SLC22A5	ORPHA:158
HP:0001250	Seizure	57107	PDSS2	ORPHA:255249
HP:0001250	Seizure	57107	PDSS2	OMIM:614652
HP:0001250	Seizure	56896	DPYSL5	OMIM:619435
HP:0001250	Seizure	55733	HHAT	OMIM:600092
HP:0001250	Seizure	57176	VARS2	OMIM:615917
HP:0001250	Seizure	5917	RARS1	ORPHA:438114
HP:0001250	Seizure	50	ACO2	OMIM:614559
HP:0001250	Seizure	4131	MAP1B	OMIM:618918
HP:0001250	Seizure	4131	MAP1B	ORPHA:98892
HP:0001250	Seizure	6844	VAMP2	OMIM:618760
HP:0001250	Seizure	340665	CYP26C1	ORPHA:398189
HP:0001250	Seizure	22872	SEC31A	OMIM:618651
HP:0001250	Seizure	8789	FBP2	OMIM:619864
HP:0001250	Seizure	5442	POLRMT	OMIM:619743
HP:0001250	Seizure	5833	PCYT2	OMIM:618770
HP:0001250	Seizure	124512	METTL23	OMIM:615942
HP:0001250	Seizure	23265	EXOC7	OMIM:619072
HP:0001250	Seizure	1182	CLCN3	OMIM:619517
HP:0001250	Seizure	151	ADRA2B	ORPHA:86814
HP:0001250	Seizure	1501	CTNND2	ORPHA:86814
HP:0001250	Seizure	10299	MARCHF6	ORPHA:86814
HP:0001250	Seizure	10299	MARCHF6	OMIM:613608
HP:0001250	Seizure	9772	TMEM94	OMIM:618316
HP:0001250	Seizure	4677	NARS1	OMIM:619091
HP:0001250	Seizure	4677	NARS1	OMIM:619092
HP:0001250	Seizure	1284	COL4A2	OMIM:614483
HP:0001250	Seizure	1315	COPB1	OMIM:619255
HP:0001250	Seizure	2801	GOLGA2	OMIM:620240
HP:0001250	Seizure	27247	NFU1	OMIM:605711
HP:0001250	Seizure	51645	PPIL1	OMIM:619301
HP:0001250	Seizure	1468	SLC25A10	OMIM:618972
HP:0001250	Seizure	51362	CDC40	OMIM:619302
HP:0001250	Seizure	1188	CLCNKB	ORPHA:358
HP:0001250	Seizure	22796	COG2	ORPHA:435934
HP:0001250	Seizure	22796	COG2	OMIM:617395
HP:0001250	Seizure	55610	VPS50	OMIM:619685
HP:0001250	Seizure	83475	DOHH	OMIM:620066
HP:0001250	Seizure	1457	CSNK2A1	OMIM:617062
HP:0001250	Seizure	1351	COX8A	OMIM:619059
HP:0001250	Seizure	1798	DPAGT1	ORPHA:86309
HP:0001250	Seizure	443	ASPA	OMIM:271900
HP:0001250	Seizure	6812	STXBP1	OMIM:612164
HP:0001250	Seizure	343450	KCNT2	OMIM:617771
HP:0001250	Seizure	10815	CPLX1	OMIM:617976
HP:0001250	Seizure	3458	IFNG	OMIM:613254
HP:0001250	Seizure	3458	IFNG	ORPHA:805
HP:0001250	Seizure	92609	TIMM50	OMIM:617698
HP:0001250	Seizure	116115	ZNF526	OMIM:619877
HP:0001250	Seizure	538	ATP7A	OMIM:309400
HP:0001250	Seizure	4191	MDH2	OMIM:617339
HP:0001250	Seizure	79813	EHMT1	ORPHA:96147
HP:0001250	Seizure	1917	EEF1A2	OMIM:616409
HP:0001250	Seizure	6595	SMARCA2	ORPHA:3051
HP:0001250	Seizure	51112	TRAPPC12	ORPHA:500144
HP:0001250	Seizure	51112	TRAPPC12	OMIM:617669
HP:0001250	Seizure	2571	GAD1	OMIM:619124
HP:0001250	Seizure	8867	SYNJ1	OMIM:617389
HP:0001250	Seizure	10659	CELF2	OMIM:619561
HP:0001250	Seizure	7358	UGDH	OMIM:618792
HP:0001250	Seizure	56947	MFF	ORPHA:485421
HP:0001250	Seizure	56947	MFF	OMIM:617086
HP:0001250	Seizure	6506	SLC1A2	OMIM:617105
HP:0001250	Seizure	5290	PIK3CA	ORPHA:99802
HP:0001250	Seizure	10000	AKT3	ORPHA:99802
HP:0001250	Seizure	6904	TBCD	OMIM:617193
HP:0001250	Seizure	7355	SLC35A2	OMIM:300896
HP:0001250	Seizure	23154	NCDN	OMIM:619373
HP:0001250	Seizure	85365	ALG2	OMIM:607906
HP:0001250	Seizure	5530	PPP3CA	OMIM:617711
HP:0001250	Seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0001250	Seizure	79718	TBL1XR1	OMIM:616944
HP:0001250	Seizure	6513	SLC2A1	ORPHA:1942
HP:0001250	Seizure	8831	SYNGAP1	ORPHA:1942
HP:0001250	Seizure	340533	NEXMIF	ORPHA:1942
HP:0001250	Seizure	1106	CHD2	ORPHA:1942
HP:0001250	Seizure	6529	SLC6A1	ORPHA:1942
HP:0001250	Seizure	501	ALDH7A1	ORPHA:3006
HP:0001250	Seizure	11212	PLPBP	ORPHA:3006
HP:0001250	Seizure	29968	PSAT1	ORPHA:284417
HP:0001250	Seizure	1327	COX4I1	OMIM:619060
HP:0001250	Seizure	774	CACNA1B	OMIM:618497
HP:0001250	Seizure	4905	NSF	OMIM:619340
HP:0001250	Seizure	221692	PHACTR1	OMIM:618298
HP:0001250	Seizure	58497	PRUNE1	ORPHA:544469
HP:0001250	Seizure	23236	PLCB1	OMIM:613722
HP:0001250	Seizure	26227	PHGDH	ORPHA:79351
HP:0001250	Seizure	26040	SETBP1	ORPHA:798
HP:0001250	Seizure	5813	PURA	ORPHA:314655
HP:0001250	Seizure	7840	ALMS1	ORPHA:64
HP:0001250	Seizure	23067	SETD1B	OMIM:619000
HP:0001250	Seizure	1027	CDKN1B	ORPHA:652
HP:0001250	Seizure	1026	CDKN1A	ORPHA:652
HP:0001250	Seizure	1030	CDKN2B	ORPHA:652
HP:0001250	Seizure	1031	CDKN2C	ORPHA:652
HP:0001250	Seizure	25930	PTPN23	OMIM:618890
HP:0001250	Seizure	8943	AP3D1	OMIM:617050
HP:0001250	Seizure	5457	POU4F1	ORPHA:314647
HP:0001250	Seizure	2019	EN1	OMIM:619218
HP:0001250	Seizure	9969	MED13	OMIM:618009
HP:0001250	Seizure	135	ADORA2A	ORPHA:363549
HP:0001250	Seizure	9853	RUSC2	OMIM:617773
HP:0001250	Seizure	10565	ARFGEF1	OMIM:619964
HP:0001250	Seizure	2192	FBLN1	ORPHA:404451
HP:0001250	Seizure	3098	HK1	OMIM:618547
HP:0001250	Seizure	253959	RALGAPA1	OMIM:618797
HP:0001250	Seizure	55275	VPS53	OMIM:615851
HP:0001250	Seizure	1107	CHD3	OMIM:618205
HP:0001250	Seizure	8449	DHX16	OMIM:618733
HP:0001250	Seizure	56997	COQ8A	OMIM:612016
HP:0001250	Seizure	29960	MRM2	OMIM:618567
HP:0001250	Seizure	5428	POLG	OMIM:203700
HP:0001250	Seizure	56652	TWNK	OMIM:271245
HP:0001250	Seizure	23258	DENND5A	OMIM:617281
HP:0001250	Seizure	3800	KIF5C	OMIM:615282
HP:0001250	Seizure	3798	KIF5A	OMIM:617235
HP:0001250	Seizure	523	ATP6V1A	OMIM:618012
HP:0001250	Seizure	477	ATP1A2	OMIM:619605
HP:0001250	Seizure	27010	TPK1	OMIM:614458
HP:0001250	Seizure	2891	GRIA2	OMIM:618917
HP:0001250	Seizure	63908	NAPB	OMIM:620033
HP:0001250	Seizure	84274	COQ5	OMIM:619028
HP:0001250	Seizure	54936	ADPRS	OMIM:618170
HP:0001250	Seizure	6792	CDKL5	OMIM:300672
HP:0001250	Seizure	8243	SMC1A	OMIM:301044
HP:0001250	Seizure	7030	TFE3	OMIM:301066
HP:0001250	Seizure	64801	ARV1	OMIM:617020
HP:0001250	Seizure	2590	GALNT2	OMIM:618885
HP:0001250	Seizure	79587	CARS2	ORPHA:477774
HP:0001250	Seizure	5528	PPP2R5D	OMIM:616355
HP:0001250	Seizure	94005	PIGS	OMIM:618143
HP:0001250	Seizure	10352	WARS2	OMIM:617710
HP:0001250	Seizure	10352	WARS2	ORPHA:572798
HP:0001250	Seizure	93627	TBCK	ORPHA:488632
HP:0001250	Seizure	25977	NECAP1	OMIM:615833
HP:0001250	Seizure	9091	PIGQ	OMIM:618548
HP:0001250	Seizure	284111	SLC13A5	OMIM:615905
HP:0001250	Seizure	1137	CHRNA4	ORPHA:98784
HP:0001250	Seizure	1135	CHRNA2	ORPHA:98784
HP:0001250	Seizure	1135	CHRNA2	OMIM:610353
HP:0001250	Seizure	57010	CABP4	ORPHA:98784
HP:0001250	Seizure	1141	CHRNB2	ORPHA:98784
HP:0001250	Seizure	57582	KCNT1	ORPHA:98784
HP:0001250	Seizure	1392	CRH	ORPHA:98784
HP:0001250	Seizure	112939	NACC1	OMIM:617393
HP:0001250	Seizure	6711	SPTBN1	OMIM:619475
HP:0001250	Seizure	2741	GLRA1	OMIM:149400
HP:0001250	Seizure	10243	GPHN	OMIM:149400
HP:0001250	Seizure	6304	SATB1	OMIM:619229
HP:0001250	Seizure	3781	KCNN2	OMIM:619725
HP:0001250	Seizure	1062	CENPE	OMIM:616051
HP:0001250	Seizure	10430	TMEM147	OMIM:620075
HP:0001250	Seizure	58472	SQOR	OMIM:619221
HP:0001250	Seizure	84816	RTN4IP1	OMIM:616732
HP:0001250	Seizure	5934	RBL2	OMIM:619690
HP:0001250	Seizure	56915	EXOSC5	OMIM:619576
HP:0001250	Seizure	10021	HCN4	OMIM:619521
HP:0001250	Seizure	125988	MICOS13	OMIM:618329
HP:0001250	Seizure	129285	PPP1R21	OMIM:619383
HP:0001250	Seizure	1460	CSNK2B	OMIM:618732
HP:0001250	Seizure	5610	EIF2AK2	OMIM:619687
HP:0002126	Polymicrogyria	27183	VPS4A	OMIM:619273
HP:0002126	Polymicrogyria	9488	PIGB	OMIM:618580
HP:0002126	Polymicrogyria	29899	GPSM2	OMIM:604213
HP:0002126	Polymicrogyria	8450	CUL4B	OMIM:300354
HP:0002126	Polymicrogyria	1281	COL3A1	OMIM:618343
HP:0002126	Polymicrogyria	10262	SF3B4	OMIM:154400
HP:0002126	Polymicrogyria	894	CCND2	ORPHA:83473
HP:0002126	Polymicrogyria	894	CCND2	OMIM:615938
HP:0002126	Polymicrogyria	5296	PIK3R2	ORPHA:83473
HP:0002126	Polymicrogyria	5296	PIK3R2	OMIM:603387
HP:0002126	Polymicrogyria	10000	AKT3	ORPHA:83473
HP:0002126	Polymicrogyria	10000	AKT3	ORPHA:99802
HP:0002126	Polymicrogyria	10000	AKT3	OMIM:615937
HP:0002126	Polymicrogyria	160418	TMTC3	OMIM:617255
HP:0002126	Polymicrogyria	26128	KIFBP	OMIM:609460
HP:0002126	Polymicrogyria	100151683	RNU4ATAC	OMIM:210710
HP:0002126	Polymicrogyria	51807	TUBA8	ORPHA:250972
HP:0002126	Polymicrogyria	55624	POMGNT1	OMIM:253280
HP:0002126	Polymicrogyria	55624	POMGNT1	ORPHA:899
HP:0002126	Polymicrogyria	55624	POMGNT1	ORPHA:370959
HP:0002126	Polymicrogyria	6328	SCN3A	OMIM:617938
HP:0002126	Polymicrogyria	50814	NSDHL	ORPHA:251383
HP:0002126	Polymicrogyria	50814	NSDHL	OMIM:300831
HP:0002126	Polymicrogyria	1605	DAG1	ORPHA:370997
HP:0002126	Polymicrogyria	1605	DAG1	ORPHA:899
HP:0002126	Polymicrogyria	1605	DAG1	OMIM:616538
HP:0002126	Polymicrogyria	10300	KATNB1	OMIM:616212
HP:0002126	Polymicrogyria	9342	SNAP29	ORPHA:66631
HP:0002126	Polymicrogyria	9342	SNAP29	OMIM:609528
HP:0002126	Polymicrogyria	2782	GNB1	ORPHA:488613
HP:0002126	Polymicrogyria	2782	GNB1	OMIM:616973
HP:0002126	Polymicrogyria	23322	RPGRIP1L	ORPHA:220497
HP:0002126	Polymicrogyria	4867	NPHP1	ORPHA:220497
HP:0002126	Polymicrogyria	65062	TMEM237	ORPHA:220497
HP:0002126	Polymicrogyria	65062	TMEM237	ORPHA:475
HP:0002126	Polymicrogyria	54931	TRMT10C	OMIM:616974
HP:0002126	Polymicrogyria	79644	SRD5A3	OMIM:612379
HP:0002126	Polymicrogyria	25914	RTTN	OMIM:614833
HP:0002126	Polymicrogyria	25914	RTTN	ORPHA:468631
HP:0002126	Polymicrogyria	54806	AHI1	ORPHA:220493
HP:0002126	Polymicrogyria	54806	AHI1	ORPHA:475
HP:0002126	Polymicrogyria	56623	INPP5E	ORPHA:220493
HP:0002126	Polymicrogyria	56623	INPP5E	ORPHA:475
HP:0002126	Polymicrogyria	153241	CEP120	ORPHA:220493
HP:0002126	Polymicrogyria	153241	CEP120	ORPHA:475
HP:0002126	Polymicrogyria	54903	MKS1	ORPHA:220493
HP:0002126	Polymicrogyria	54903	MKS1	ORPHA:475
HP:0002126	Polymicrogyria	95681	CEP41	ORPHA:220493
HP:0002126	Polymicrogyria	95681	CEP41	ORPHA:475
HP:0002126	Polymicrogyria	27185	DISC1	ORPHA:171703
HP:0002126	Polymicrogyria	8320	EOMES	ORPHA:171703
HP:0002126	Polymicrogyria	5610	EIF2AK2	OMIM:618877
HP:0002126	Polymicrogyria	5290	PIK3CA	ORPHA:99802
HP:0002126	Polymicrogyria	5290	PIK3CA	ORPHA:60040
HP:0002126	Polymicrogyria	5290	PIK3CA	OMIM:602501
HP:0002126	Polymicrogyria	55780	ERMARD	ORPHA:75857
HP:0002126	Polymicrogyria	26153	KIF26A	OMIM:620156
HP:0002126	Polymicrogyria	2067	ERCC1	OMIM:610758
HP:0002126	Polymicrogyria	5189	PEX1	OMIM:214100
HP:0002126	Polymicrogyria	5189	PEX1	ORPHA:912
HP:0002126	Polymicrogyria	29954	POMT2	OMIM:236670
HP:0002126	Polymicrogyria	29954	POMT2	ORPHA:899
HP:0002126	Polymicrogyria	29954	POMT2	ORPHA:370959
HP:0002126	Polymicrogyria	9215	LARGE1	OMIM:236670
HP:0002126	Polymicrogyria	9215	LARGE1	ORPHA:899
HP:0002126	Polymicrogyria	79147	FKRP	OMIM:236670
HP:0002126	Polymicrogyria	79147	FKRP	ORPHA:899
HP:0002126	Polymicrogyria	79147	FKRP	ORPHA:370959
HP:0002126	Polymicrogyria	10585	POMT1	OMIM:236670
HP:0002126	Polymicrogyria	10585	POMT1	ORPHA:899
HP:0002126	Polymicrogyria	10585	POMT1	ORPHA:370959
HP:0002126	Polymicrogyria	2218	FKTN	OMIM:236670
HP:0002126	Polymicrogyria	2218	FKTN	ORPHA:899
HP:0002126	Polymicrogyria	2218	FKTN	OMIM:253800
HP:0002126	Polymicrogyria	4131	MAP1B	OMIM:618918
HP:0002126	Polymicrogyria	84892	POMGNT2	ORPHA:899
HP:0002126	Polymicrogyria	148789	B3GALNT2	ORPHA:899
HP:0002126	Polymicrogyria	148789	B3GALNT2	OMIM:615181
HP:0002126	Polymicrogyria	1282	COL4A1	ORPHA:899
HP:0002126	Polymicrogyria	729920	CRPPA	ORPHA:899
HP:0002126	Polymicrogyria	729920	CRPPA	OMIM:614643
HP:0002126	Polymicrogyria	10329	RXYLT1	ORPHA:899
HP:0002126	Polymicrogyria	11041	B4GAT1	ORPHA:899
HP:0002126	Polymicrogyria	84197	POMK	ORPHA:899
HP:0002126	Polymicrogyria	84197	POMK	ORPHA:370959
HP:0002126	Polymicrogyria	284403	WDR62	OMIM:604317
HP:0002126	Polymicrogyria	11274	USP18	OMIM:617397
HP:0002126	Polymicrogyria	10381	TUBB3	ORPHA:300570
HP:0002126	Polymicrogyria	9361	LONP1	ORPHA:79243
HP:0002126	Polymicrogyria	5160	PDHA1	ORPHA:79243
HP:0002126	Polymicrogyria	8131	NPRL3	ORPHA:98820
HP:0002126	Polymicrogyria	10641	NPRL2	ORPHA:98820
HP:0002126	Polymicrogyria	9681	DEPDC5	ORPHA:98820
HP:0002126	Polymicrogyria	80311	KLHL15	OMIM:300982
HP:0002126	Polymicrogyria	9401	RECQL4	OMIM:218600
HP:0002126	Polymicrogyria	9839	ZEB2	ORPHA:261552
HP:0002126	Polymicrogyria	9839	ZEB2	ORPHA:261537
HP:0002126	Polymicrogyria	2009	EML1	OMIM:600348
HP:0002126	Polymicrogyria	4330	MN1	OMIM:618774
HP:0002126	Polymicrogyria	23327	NEDD4L	OMIM:617201
HP:0002126	Polymicrogyria	1822	ATN1	OMIM:618494
HP:0002126	Polymicrogyria	26005	C2CD3	OMIM:615948
HP:0002126	Polymicrogyria	57572	DOCK6	OMIM:614219
HP:0002126	Polymicrogyria	79600	TCTN1	ORPHA:475
HP:0002126	Polymicrogyria	79848	CSPP1	ORPHA:475
HP:0002126	Polymicrogyria	51684	SUFU	ORPHA:475
HP:0002126	Polymicrogyria	51684	SUFU	OMIM:617757
HP:0002126	Polymicrogyria	65250	CPLANE1	ORPHA:475
HP:0002126	Polymicrogyria	65250	CPLANE1	OMIM:277170
HP:0002126	Polymicrogyria	91147	TMEM67	ORPHA:475
HP:0002126	Polymicrogyria	200894	ARL13B	ORPHA:475
HP:0002126	Polymicrogyria	9731	CEP104	ORPHA:475
HP:0002126	Polymicrogyria	219844	HYLS1	ORPHA:475
HP:0002126	Polymicrogyria	23247	KATNIP	ORPHA:475
HP:0002126	Polymicrogyria	219854	TMEM218	ORPHA:475
HP:0002126	Polymicrogyria	9786	KIAA0586	ORPHA:475
HP:0002126	Polymicrogyria	9786	KIAA0586	OMIM:616546
HP:0002126	Polymicrogyria	79867	TCTN2	ORPHA:475
HP:0002126	Polymicrogyria	79867	TCTN2	OMIM:616654
HP:0002126	Polymicrogyria	80776	B9D2	ORPHA:475
HP:0002126	Polymicrogyria	10464	PIBF1	ORPHA:475
HP:0002126	Polymicrogyria	80210	ARMC9	ORPHA:475
HP:0002126	Polymicrogyria	80210	ARMC9	OMIM:617622
HP:0002126	Polymicrogyria	23116	TOGARAM1	ORPHA:475
HP:0002126	Polymicrogyria	25776	CBY1	ORPHA:475
HP:0002126	Polymicrogyria	27077	B9D1	ORPHA:475
HP:0002126	Polymicrogyria	403	ARL3	ORPHA:475
HP:0002126	Polymicrogyria	4204	MECP2	OMIM:300673
HP:0002126	Polymicrogyria	23512	SUZ12	OMIM:618786
HP:0002126	Polymicrogyria	112858	TP53RK	OMIM:617730
HP:0002126	Polymicrogyria	6608	SMO	OMIM:601707
HP:0002126	Polymicrogyria	8270	LAGE3	OMIM:301006
HP:0002126	Polymicrogyria	25782	RAB3GAP2	OMIM:614225
HP:0002126	Polymicrogyria	22931	RAB18	OMIM:614222
HP:0002126	Polymicrogyria	57514	ARHGAP31	OMIM:100300
HP:0002126	Polymicrogyria	4659	PPP1R12A	OMIM:618820
HP:0002126	Polymicrogyria	5828	PEX2	OMIM:614866
HP:0002126	Polymicrogyria	5828	PEX2	ORPHA:912
HP:0002126	Polymicrogyria	526	ATP6V1B2	ORPHA:79500
HP:0002126	Polymicrogyria	57465	TBC1D24	ORPHA:79500
HP:0002126	Polymicrogyria	23545	ATP6V0A2	OMIM:219200
HP:0002126	Polymicrogyria	23545	ATP6V0A2	ORPHA:357074
HP:0002126	Polymicrogyria	80781	COL18A1	OMIM:267750
HP:0002126	Polymicrogyria	29925	GMPPB	ORPHA:370959
HP:0002126	Polymicrogyria	1718	DHCR24	ORPHA:35107
HP:0002126	Polymicrogyria	2222	FDFT1	OMIM:618156
HP:0002126	Polymicrogyria	3800	KIF5C	OMIM:615282
HP:0002126	Polymicrogyria	9326	ZNHIT3	OMIM:260565
HP:0002126	Polymicrogyria	55640	FLVCR2	OMIM:225790
HP:0002126	Polymicrogyria	9896	FIG4	OMIM:612691
HP:0002126	Polymicrogyria	79143	MBOAT7	OMIM:617188
HP:0002126	Polymicrogyria	10319	LAMC3	OMIM:614115
HP:0002126	Polymicrogyria	55670	PEX26	OMIM:614872
HP:0002126	Polymicrogyria	55670	PEX26	ORPHA:912
HP:0002126	Polymicrogyria	55704	CCDC88A	OMIM:617507
HP:0002126	Polymicrogyria	100506658	OCLN	OMIM:251290
HP:0002126	Polymicrogyria	7284	TUFM	OMIM:610678
HP:0002126	Polymicrogyria	11128	POLR3A	ORPHA:3455
HP:0002126	Polymicrogyria	2271	FH	OMIM:606812
HP:0002126	Polymicrogyria	1376	CPT2	OMIM:608836
HP:0002126	Polymicrogyria	1376	CPT2	ORPHA:228308
HP:0002126	Polymicrogyria	4123	MAN2C1	OMIM:619775
HP:0002126	Polymicrogyria	523	ATP6V1A	ORPHA:357074
HP:0002126	Polymicrogyria	529	ATP6V1E1	ORPHA:357074
HP:0002126	Polymicrogyria	5879	RAC1	OMIM:617751
HP:0002126	Polymicrogyria	5879	RAC1	ORPHA:500159
HP:0002126	Polymicrogyria	6651	SON	ORPHA:500150
HP:0002126	Polymicrogyria	200205	IBA57	OMIM:615330
HP:0002126	Polymicrogyria	1284	COL4A2	OMIM:614483
HP:0002126	Polymicrogyria	5194	PEX13	OMIM:614883
HP:0002126	Polymicrogyria	5194	PEX13	ORPHA:912
HP:0002126	Polymicrogyria	23219	FBXO28	OMIM:619777
HP:0002126	Polymicrogyria	5195	PEX14	OMIM:614887
HP:0002126	Polymicrogyria	5195	PEX14	ORPHA:912
HP:0002126	Polymicrogyria	3295	HSD17B4	OMIM:261515
HP:0002126	Polymicrogyria	71	ACTG1	ORPHA:2995
HP:0002126	Polymicrogyria	60	ACTB	ORPHA:2995
HP:0002126	Polymicrogyria	8295	TRRAP	OMIM:618454
HP:0002126	Polymicrogyria	51075	TMX2	OMIM:618730
HP:0002126	Polymicrogyria	8884	SLC5A6	OMIM:618973
HP:0002126	Polymicrogyria	5728	PTEN	ORPHA:65285
HP:0002126	Polymicrogyria	57647	DHX37	OMIM:618731
HP:0002126	Polymicrogyria	2902	GRIN1	OMIM:614254
HP:0002126	Polymicrogyria	10243	GPHN	OMIM:615501
HP:0002126	Polymicrogyria	80199	FUZ	ORPHA:1136
HP:0002126	Polymicrogyria	5824	PEX19	ORPHA:912
HP:0002126	Polymicrogyria	8504	PEX3	ORPHA:912
HP:0002126	Polymicrogyria	8799	PEX11B	ORPHA:912
HP:0002126	Polymicrogyria	9409	PEX16	ORPHA:912
HP:0002126	Polymicrogyria	5190	PEX6	ORPHA:912
HP:0002126	Polymicrogyria	5830	PEX5	ORPHA:912
HP:0002126	Polymicrogyria	5193	PEX12	ORPHA:912
HP:0002126	Polymicrogyria	5192	PEX10	ORPHA:912
HP:0002126	Polymicrogyria	7490	WT1	OMIM:106210
HP:0002126	Polymicrogyria	5080	PAX6	OMIM:106210
HP:0002126	Polymicrogyria	168667	BMPER	OMIM:608022
HP:0002126	Polymicrogyria	1778	DYNC1H1	OMIM:614563
HP:0002126	Polymicrogyria	23229	ARHGEF9	OMIM:300607
HP:0002126	Polymicrogyria	8496	PPFIBP1	OMIM:620024
HP:0002126	Polymicrogyria	23299	BICD2	OMIM:618291
HP:0002126	Polymicrogyria	7846	TUBA1A	ORPHA:171680
HP:0002126	Polymicrogyria	6638	SNRPN	ORPHA:177904
HP:0002126	Polymicrogyria	6638	SNRPN	ORPHA:177901
HP:0002126	Polymicrogyria	6638	SNRPN	ORPHA:98754
HP:0002126	Polymicrogyria	4692	NDN	ORPHA:177904
HP:0002126	Polymicrogyria	4692	NDN	ORPHA:177901
HP:0002126	Polymicrogyria	4692	NDN	ORPHA:98754
HP:0002126	Polymicrogyria	54551	MAGEL2	ORPHA:177904
HP:0002126	Polymicrogyria	54551	MAGEL2	ORPHA:177901
HP:0002126	Polymicrogyria	54551	MAGEL2	ORPHA:98754
HP:0002126	Polymicrogyria	4948	OCA2	ORPHA:177904
HP:0002126	Polymicrogyria	4948	OCA2	ORPHA:177901
HP:0002126	Polymicrogyria	4948	OCA2	ORPHA:98754
HP:0002126	Polymicrogyria	9289	ADGRG1	OMIM:606854
HP:0002126	Polymicrogyria	9289	ADGRG1	OMIM:615752
HP:0002126	Polymicrogyria	23162	MAPK8IP3	OMIM:618443
HP:0002126	Polymicrogyria	22930	RAB3GAP1	OMIM:600118
HP:0002126	Polymicrogyria	5297	PI4KA	OMIM:616531
HP:0002126	Polymicrogyria	347733	TUBB2B	ORPHA:300573
HP:0002126	Polymicrogyria	10367	MICU1	OMIM:615673
HP:0002126	Polymicrogyria	6472	SHMT2	OMIM:619121
HP:0002126	Polymicrogyria	28514	DLL1	ORPHA:280195
HP:0002126	Polymicrogyria	2253	FGF8	ORPHA:280195
HP:0002126	Polymicrogyria	6496	SIX3	ORPHA:280195
HP:0002126	Polymicrogyria	7050	TGIF1	ORPHA:280195
HP:0002126	Polymicrogyria	4838	NODAL	ORPHA:280195
HP:0002126	Polymicrogyria	6469	SHH	ORPHA:280195
HP:0002126	Polymicrogyria	7546	ZIC2	ORPHA:280195
HP:0002126	Polymicrogyria	6491	STIL	ORPHA:280195
HP:0002126	Polymicrogyria	2619	GAS1	ORPHA:280195
HP:0002126	Polymicrogyria	84976	DISP1	ORPHA:280195
HP:0002126	Polymicrogyria	2736	GLI2	ORPHA:280195
HP:0002126	Polymicrogyria	8928	FOXH1	ORPHA:280195
HP:0002126	Polymicrogyria	5727	PTCH1	ORPHA:280195
HP:0002126	Polymicrogyria	50937	CDON	ORPHA:280195
HP:0002126	Polymicrogyria	477	ATP1A2	OMIM:619605
HP:0002126	Polymicrogyria	478	ATP1A3	OMIM:619606
HP:0002126	Polymicrogyria	128637	TBC1D20	OMIM:615663
HP:0002126	Polymicrogyria	2475	MTOR	OMIM:616638
HP:0002126	Polymicrogyria	54187	NANS	OMIM:610442
HP:0002126	Polymicrogyria	25942	SIN3A	OMIM:613406
HP:0002126	Polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0002126	Polymicrogyria	27286	SRPX2	OMIM:300643
HP:0002126	Polymicrogyria	22858	CILK1	OMIM:612651
HP:0002126	Polymicrogyria	4953	ODC1	OMIM:619075
HP:0002126	Polymicrogyria	10524	KAT5	OMIM:619103
HP:0002126	Polymicrogyria	203068	TUBB	OMIM:615771
HP:0002127	Abnormal upper motor neuron morphology	57679	ALS2	OMIM:205100
HP:0002127	Abnormal upper motor neuron morphology	57679	ALS2	OMIM:606353
HP:0002127	Abnormal upper motor neuron morphology	57679	ALS2	ORPHA:247604
HP:0002127	Abnormal upper motor neuron morphology	10908	PNPLA6	OMIM:215470
HP:0002127	Abnormal upper motor neuron morphology	9782	MATR3	OMIM:606070
HP:0002127	Abnormal upper motor neuron morphology	2632	GBE1	OMIM:263570
HP:0002127	Abnormal upper motor neuron morphology	6687	SPG7	ORPHA:35689
HP:0002127	Abnormal upper motor neuron morphology	2521	FUS	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	7415	VCP	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	23435	TARDBP	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	29110	TBK1	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0002127	Abnormal upper motor neuron morphology	11160	ERLIN2	ORPHA:247604
HP:0002127	Abnormal upper motor neuron morphology	7305	TYROBP	OMIM:221770
HP:0002127	Abnormal upper motor neuron morphology	5832	ALDH18A1	OMIM:601162
HP:0100543	Cognitive impairment	5274	SERPINI1	OMIM:604218
HP:0100543	Cognitive impairment	8029	CUBN	OMIM:261100
HP:0100543	Cognitive impairment	9782	MATR3	OMIM:606070
HP:0100543	Cognitive impairment	9782	MATR3	ORPHA:600
HP:0100543	Cognitive impairment	4693	NDP	OMIM:310600
HP:0100543	Cognitive impairment	6311	ATXN2	OMIM:183090
HP:0100543	Cognitive impairment	6311	ATXN2	ORPHA:98756
HP:0100543	Cognitive impairment	6311	ATXN2	OMIM:168600
HP:0100543	Cognitive impairment	3664	IRF6	OMIM:119500
HP:0100543	Cognitive impairment	54476	RNF216	OMIM:212840
HP:0100543	Cognitive impairment	54476	RNF216	ORPHA:1173
HP:0100543	Cognitive impairment	1890	TYMP	ORPHA:298
HP:0100543	Cognitive impairment	1890	TYMP	OMIM:603041
HP:0100543	Cognitive impairment	4519	MT-CYB	OMIM:540000
HP:0100543	Cognitive impairment	4511	MT-TC	OMIM:540000
HP:0100543	Cognitive impairment	4577	MT-TV	OMIM:540000
HP:0100543	Cognitive impairment	7276	TTR	OMIM:105210
HP:0100543	Cognitive impairment	4508	MT-ATP6	OMIM:551500
HP:0100543	Cognitive impairment	4508	MT-ATP6	ORPHA:644
HP:0100543	Cognitive impairment	10908	PNPLA6	ORPHA:1173
HP:0100543	Cognitive impairment	1471	CST3	OMIM:105150
HP:0100543	Cognitive impairment	493856	CISD2	ORPHA:3463
HP:0100543	Cognitive impairment	7466	WFS1	ORPHA:3463
HP:0100543	Cognitive impairment	7466	WFS1	ORPHA:411590
HP:0100543	Cognitive impairment	4311	MME	ORPHA:497764
HP:0100543	Cognitive impairment	4311	MME	OMIM:617017
HP:0100543	Cognitive impairment	540	ATP7B	OMIM:277900
HP:0100543	Cognitive impairment	4556	MT-TE	ORPHA:2596
HP:0100543	Cognitive impairment	80331	DNAJC5	OMIM:162350
HP:0100543	Cognitive impairment	51142	CHCHD2	OMIM:616710
HP:0100543	Cognitive impairment	7080	NKX2-1	OMIM:118700
HP:0100543	Cognitive impairment	2066	ERBB4	OMIM:615515
HP:0100543	Cognitive impairment	4353	MPO	OMIM:104300
HP:0100543	Cognitive impairment	4846	NOS3	OMIM:104300
HP:0100543	Cognitive impairment	3077	HFE	OMIM:104300
HP:0100543	Cognitive impairment	5328	PLAU	OMIM:104300
HP:0100543	Cognitive impairment	144165	PRICKLE1	ORPHA:308
HP:0100543	Cognitive impairment	25814	ATXN10	OMIM:603516
HP:0100543	Cognitive impairment	57505	AARS2	OMIM:615889
HP:0100543	Cognitive impairment	54822	TRPM7	OMIM:105500
HP:0100543	Cognitive impairment	4694	NDUFA1	OMIM:301020
HP:0100543	Cognitive impairment	116442	RAB39B	OMIM:311510
HP:0100543	Cognitive impairment	1737	DLAT	ORPHA:79244
HP:0100543	Cognitive impairment	4864	NPC1	OMIM:257220
HP:0100543	Cognitive impairment	10382	TUBB4A	ORPHA:98805
HP:0100543	Cognitive impairment	219285	SAMD9L	OMIM:619806
HP:0100543	Cognitive impairment	6620	SNCB	OMIM:127750
HP:0100543	Cognitive impairment	10577	NPC2	OMIM:607625
HP:0100543	Cognitive impairment	126129	CPT1C	ORPHA:444099
HP:0100543	Cognitive impairment	80217	CFAP43	OMIM:236690
HP:0100543	Cognitive impairment	2747	GLUD2	OMIM:168600
HP:0100543	Cognitive impairment	126	ADH1C	OMIM:168600
HP:0100543	Cognitive impairment	4929	NR4A2	OMIM:168600
HP:0100543	Cognitive impairment	4576	MT-TT	OMIM:168600
HP:0100543	Cognitive impairment	9627	SNCAIP	OMIM:168600
HP:0100543	Cognitive impairment	6315	ATXN8OS	OMIM:168600
HP:0100543	Cognitive impairment	5052	PRDX1	OMIM:277400
HP:0100543	Cognitive impairment	1203	CLN5	ORPHA:228360
HP:0100543	Cognitive impairment	51728	POLR3K	OMIM:619310
HP:0100543	Cognitive impairment	23446	SLC44A1	OMIM:618868
HP:0100543	Cognitive impairment	1786	DNMT1	ORPHA:314404
HP:0100543	Cognitive impairment	51816	ADA2	ORPHA:820
HP:0100543	Cognitive impairment	51816	ADA2	OMIM:182410
HP:0100543	Cognitive impairment	8722	CTSF	OMIM:615362
HP:0100543	Cognitive impairment	54982	CLN6	OMIM:204300
HP:0100543	Cognitive impairment	23600	AMACR	ORPHA:79095
HP:0100543	Cognitive impairment	1476	CSTB	OMIM:254800
HP:0100543	Cognitive impairment	5053	PAH	ORPHA:79254
HP:0100543	Cognitive impairment	6314	ATXN7	OMIM:164500
HP:0100543	Cognitive impairment	6314	ATXN7	ORPHA:94147
HP:0100543	Cognitive impairment	2592	GALT	ORPHA:79239
HP:0100543	Cognitive impairment	1340	COX6B1	OMIM:619051
HP:0100543	Cognitive impairment	51360	MBTPS2	ORPHA:2273
HP:0100543	Cognitive impairment	7343	UBTF	OMIM:617672
HP:0100543	Cognitive impairment	3746	KCNC1	OMIM:616187
HP:0100543	Cognitive impairment	54834	GDAP2	OMIM:618369
HP:0100543	Cognitive impairment	23317	DNAJC13	ORPHA:411602
HP:0100543	Cognitive impairment	1981	EIF4G1	ORPHA:411602
HP:0100543	Cognitive impairment	55737	VPS35	ORPHA:411602
HP:0100543	Cognitive impairment	26058	GIGYF2	ORPHA:411602
HP:0100543	Cognitive impairment	6575	SLC20A2	OMIM:213600
HP:0100543	Cognitive impairment	1509	CTSD	OMIM:610127
HP:0100543	Cognitive impairment	9570	GOSR2	OMIM:620166
HP:0100543	Cognitive impairment	55750	AGK	OMIM:212350
HP:0100543	Cognitive impairment	60	ACTB	ORPHA:79107
HP:0100543	Cognitive impairment	1678	TIMM8A	OMIM:304700
HP:0100543	Cognitive impairment	1678	TIMM8A	ORPHA:52368
HP:0100543	Cognitive impairment	51324	SPG21	ORPHA:101001
HP:0100543	Cognitive impairment	2332	FMR1	OMIM:300623
HP:0100543	Cognitive impairment	1759	DNM1	ORPHA:2382
HP:0100543	Cognitive impairment	1759	DNM1	ORPHA:442835
HP:0100543	Cognitive impairment	2562	GABRB3	ORPHA:2382
HP:0100543	Cognitive impairment	5602	MAPK10	ORPHA:2382
HP:0100543	Cognitive impairment	23316	CUX2	ORPHA:2382
HP:0100543	Cognitive impairment	1106	CHD2	ORPHA:2382
HP:0100543	Cognitive impairment	83636	C19orf12	OMIM:614298
HP:0100543	Cognitive impairment	7098	TLR3	OMIM:613002
HP:0100543	Cognitive impairment	51271	UBAP1	OMIM:618418
HP:0100543	Cognitive impairment	3737	KCNA2	ORPHA:442835
HP:0100543	Cognitive impairment	8120	AP3B2	ORPHA:442835
HP:0100543	Cognitive impairment	10991	SLC38A3	ORPHA:442835
HP:0100543	Cognitive impairment	51343	FZR1	ORPHA:442835
HP:0100543	Cognitive impairment	22906	TRAK1	ORPHA:442835
HP:0100543	Cognitive impairment	1917	EEF1A2	ORPHA:442835
HP:0100543	Cognitive impairment	2561	GABRB2	ORPHA:442835
HP:0100543	Cognitive impairment	8831	SYNGAP1	ORPHA:442835
HP:0100543	Cognitive impairment	7532	YWHAG	ORPHA:442835
HP:0100543	Cognitive impairment	79876	UBA5	ORPHA:442835
HP:0100543	Cognitive impairment	6328	SCN3A	ORPHA:442835
HP:0100543	Cognitive impairment	2558	GABRA5	ORPHA:442835
HP:0100543	Cognitive impairment	781	CACNA2D1	ORPHA:442835
HP:0100543	Cognitive impairment	2906	GRIN2D	ORPHA:442835
HP:0100543	Cognitive impairment	116150	NUS1	ORPHA:442835
HP:0100543	Cognitive impairment	10659	CELF2	ORPHA:442835
HP:0100543	Cognitive impairment	774	CACNA1B	ORPHA:442835
HP:0100543	Cognitive impairment	51741	WWOX	ORPHA:442835
HP:0100543	Cognitive impairment	23334	SZT2	ORPHA:442835
HP:0100543	Cognitive impairment	51412	ACTL6B	ORPHA:442835
HP:0100543	Cognitive impairment	6506	SLC1A2	ORPHA:442835
HP:0100543	Cognitive impairment	2258	FGF13	ORPHA:442835
HP:0100543	Cognitive impairment	3745	KCNB1	ORPHA:442835
HP:0100543	Cognitive impairment	284111	SLC13A5	ORPHA:442835
HP:0100543	Cognitive impairment	284111	SLC13A5	ORPHA:1946
HP:0100543	Cognitive impairment	25977	NECAP1	ORPHA:442835
HP:0100543	Cognitive impairment	16	AARS1	ORPHA:442835
HP:0100543	Cognitive impairment	16	AARS1	OMIM:619661
HP:0100543	Cognitive impairment	22866	CNKSR2	ORPHA:442835
HP:0100543	Cognitive impairment	9568	GABBR2	ORPHA:442835
HP:0100543	Cognitive impairment	2555	GABRA2	ORPHA:442835
HP:0100543	Cognitive impairment	55152	DALRD3	ORPHA:442835
HP:0100543	Cognitive impairment	26999	CYFIP2	ORPHA:442835
HP:0100543	Cognitive impairment	4915	NTRK2	ORPHA:442835
HP:0100543	Cognitive impairment	25973	PARS2	ORPHA:442835
HP:0100543	Cognitive impairment	23097	CDK19	ORPHA:442835
HP:0100543	Cognitive impairment	64801	ARV1	ORPHA:442835
HP:0100543	Cognitive impairment	79947	DHDDS	ORPHA:442835
HP:0100543	Cognitive impairment	2257	FGF12	ORPHA:442835
HP:0100543	Cognitive impairment	5530	PPP3CA	ORPHA:442835
HP:0100543	Cognitive impairment	950	SCARB2	OMIM:254900
HP:0100543	Cognitive impairment	84138	SLC7A6OS	OMIM:619191
HP:0100543	Cognitive impairment	8879	SGPL1	OMIM:617575
HP:0100543	Cognitive impairment	58494	JAM2	OMIM:618824
HP:0100543	Cognitive impairment	9927	MFN2	OMIM:609260
HP:0100543	Cognitive impairment	10846	PDE10A	OMIM:616922
HP:0100543	Cognitive impairment	80067	DCAF17	ORPHA:3464
HP:0100543	Cognitive impairment	25915	NDUFAF3	ORPHA:70474
HP:0100543	Cognitive impairment	4714	NDUFB8	ORPHA:70474
HP:0100543	Cognitive impairment	4720	NDUFS2	ORPHA:70474
HP:0100543	Cognitive impairment	9997	SCO2	ORPHA:70474
HP:0100543	Cognitive impairment	6834	SURF1	ORPHA:70474
HP:0100543	Cognitive impairment	57462	MYORG	OMIM:618317
HP:0100543	Cognitive impairment	256471	MFSD8	OMIM:610951
HP:0100543	Cognitive impairment	6908	TBP	ORPHA:98759
HP:0100543	Cognitive impairment	11152	WDR45	OMIM:300894
HP:0100543	Cognitive impairment	427	ASAH1	ORPHA:2590
HP:0100543	Cognitive impairment	25974	MMACHC	ORPHA:79282
HP:0100543	Cognitive impairment	4683	NBN	ORPHA:647
HP:0100543	Cognitive impairment	79641	ROGDI	ORPHA:1946
HP:0100543	Cognitive impairment	6609	SMPD1	OMIM:607616
HP:0100543	Cognitive impairment	3980	LIG3	OMIM:619780
HP:0100543	Cognitive impairment	79587	CARS2	OMIM:616672
HP:0100543	Cognitive impairment	4893	NRAS	OMIM:249400
HP:0100543	Cognitive impairment	80169	CTC1	OMIM:612199
HP:0100543	Cognitive impairment	10749	KIF1C	OMIM:611302
HP:0100543	Cognitive impairment	3145	HMBS	ORPHA:79276
HP:0100543	Cognitive impairment	410	ARSA	OMIM:250100
HP:0100543	Cognitive impairment	4137	MAPT	OMIM:600274
HP:0100543	Cognitive impairment	4137	MAPT	OMIM:172700
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:275864
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:100070
HP:0100543	Cognitive impairment	5663	PSEN1	OMIM:600274
HP:0100543	Cognitive impairment	5663	PSEN1	OMIM:172700
HP:0100543	Cognitive impairment	5663	PSEN1	ORPHA:275864
HP:0100543	Cognitive impairment	5663	PSEN1	ORPHA:100070
HP:0100543	Cognitive impairment	8398	PLA2G6	ORPHA:199351
HP:0100543	Cognitive impairment	8398	PLA2G6	OMIM:612953
HP:0100543	Cognitive impairment	25978	CHMP2B	OMIM:600795
HP:0100543	Cognitive impairment	25978	CHMP2B	ORPHA:275864
HP:0100543	Cognitive impairment	25978	CHMP2B	ORPHA:100070
HP:0100543	Cognitive impairment	29978	UBQLN2	OMIM:300857
HP:0100543	Cognitive impairment	1540	CYLD	OMIM:619132
HP:0100543	Cognitive impairment	7072	TIA1	OMIM:619133
HP:0100543	Cognitive impairment	23435	TARDBP	OMIM:612069
HP:0100543	Cognitive impairment	23435	TARDBP	ORPHA:275872
HP:0100543	Cognitive impairment	400916	CHCHD10	OMIM:615911
HP:0100543	Cognitive impairment	400916	CHCHD10	ORPHA:275872
HP:0100543	Cognitive impairment	7277	TUBA4A	OMIM:616208
HP:0100543	Cognitive impairment	2521	FUS	ORPHA:275872
HP:0100543	Cognitive impairment	8878	SQSTM1	ORPHA:275872
HP:0100543	Cognitive impairment	8878	SQSTM1	ORPHA:275864
HP:0100543	Cognitive impairment	8878	SQSTM1	OMIM:616437
HP:0100543	Cognitive impairment	29110	TBK1	ORPHA:275872
HP:0100543	Cognitive impairment	29110	TBK1	OMIM:616439
HP:0100543	Cognitive impairment	203228	C9orf72	OMIM:105550
HP:0100543	Cognitive impairment	2896	GRN	OMIM:607485
HP:0100543	Cognitive impairment	2896	GRN	ORPHA:275864
HP:0100543	Cognitive impairment	2896	GRN	ORPHA:100070
HP:0100543	Cognitive impairment	899	CCNF	OMIM:619141
HP:0100543	Cognitive impairment	23503	ZFYVE26	ORPHA:100996
HP:0100543	Cognitive impairment	5575	PRKAR1B	ORPHA:412066
HP:0100543	Cognitive impairment	3181	HNRNPA2B1	OMIM:615422
HP:0100543	Cognitive impairment	3181	HNRNPA2B1	ORPHA:52430
HP:0100543	Cognitive impairment	54664	TMEM106B	ORPHA:275864
HP:0100543	Cognitive impairment	54664	TMEM106B	ORPHA:100070
HP:0100543	Cognitive impairment	54209	TREM2	ORPHA:275864
HP:0100543	Cognitive impairment	54209	TREM2	ORPHA:100070
HP:0100543	Cognitive impairment	1639	DCTN1	OMIM:168605
HP:0100543	Cognitive impairment	3178	HNRNPA1	ORPHA:52430
HP:0100543	Cognitive impairment	55131	RBM28	ORPHA:157954
HP:0100543	Cognitive impairment	55131	RBM28	OMIM:612079
HP:0100543	Cognitive impairment	644096	SDHAF1	ORPHA:3208
HP:0100543	Cognitive impairment	4204	MECP2	OMIM:312750
HP:0100543	Cognitive impairment	138050	HGSNAT	OMIM:252930
HP:0100543	Cognitive impairment	25894	PLEKHG4	ORPHA:98765
HP:0100543	Cognitive impairment	2074	ERCC6	OMIM:214150
HP:0100543	Cognitive impairment	2074	ERCC6	ORPHA:90324
HP:0100543	Cognitive impairment	3735	KARS1	OMIM:619196
HP:0100543	Cognitive impairment	1497	CTNS	OMIM:219800
HP:0100543	Cognitive impairment	26277	TINF2	OMIM:268130
HP:0100543	Cognitive impairment	64849	SLC13A3	OMIM:618384
HP:0100543	Cognitive impairment	3028	HSD17B10	OMIM:300438
HP:0100543	Cognitive impairment	23516	SLC39A14	OMIM:617013
HP:0100543	Cognitive impairment	1161	ERCC8	ORPHA:90324
HP:0100543	Cognitive impairment	100151683	RNU4ATAC	OMIM:210710
HP:0100543	Cognitive impairment	2643	GCH1	OMIM:233910
HP:0100543	Cognitive impairment	773	CACNA1A	ORPHA:2131
HP:0100543	Cognitive impairment	6507	SLC1A3	ORPHA:2131
HP:0100543	Cognitive impairment	477	ATP1A2	ORPHA:2131
HP:0100543	Cognitive impairment	478	ATP1A3	ORPHA:2131
HP:0100543	Cognitive impairment	123263	MTFMT	OMIM:614947
HP:0100543	Cognitive impairment	4001	LMNB1	OMIM:169500
HP:0100543	Cognitive impairment	2629	GBA1	OMIM:608013
HP:0100543	Cognitive impairment	2629	GBA1	OMIM:230900
HP:0100543	Cognitive impairment	2629	GBA1	OMIM:231000
HP:0100543	Cognitive impairment	10128	LRPPRC	ORPHA:70472
HP:0100543	Cognitive impairment	26275	HIBCH	ORPHA:88639
HP:0100543	Cognitive impairment	8867	SYNJ1	OMIM:617389
HP:0100543	Cognitive impairment	2581	GALC	ORPHA:206448
HP:0100543	Cognitive impairment	2581	GALC	ORPHA:206436
HP:0100543	Cognitive impairment	5660	PSAP	OMIM:611722
HP:0100543	Cognitive impairment	5660	PSAP	ORPHA:206436
HP:0100543	Cognitive impairment	5873	RAB27A	OMIM:607624
HP:0100543	Cognitive impairment	5805	PTS	OMIM:261640
HP:0100543	Cognitive impairment	1537	CYC1	OMIM:615453
HP:0100543	Cognitive impairment	7415	VCP	ORPHA:329478
HP:0100543	Cognitive impairment	125988	MICOS13	OMIM:618329
HP:0100543	Cognitive impairment	5832	ALDH18A1	ORPHA:447757
HP:0100543	Cognitive impairment	57192	MCOLN1	OMIM:252650
HP:0100543	Cognitive impairment	3172	HNF4A	ORPHA:263455
HP:0100543	Cognitive impairment	10715	CERS1	OMIM:616230
HP:0100543	Cognitive impairment	11277	TREX1	ORPHA:247691
HP:0100543	Cognitive impairment	5159	PDGFRB	OMIM:616592
HP:0100543	Cognitive impairment	5860	QDPR	OMIM:261630
HP:0100543	Cognitive impairment	51300	TIMMDC1	OMIM:618251
HP:0100543	Cognitive impairment	4700	NDUFA6	OMIM:618253
HP:0100543	Cognitive impairment	50484	RRM2B	OMIM:612075
HP:0100543	Cognitive impairment	7957	EPM2A	OMIM:254780
HP:0100543	Cognitive impairment	378884	NHLRC1	OMIM:254780
HP:0100543	Cognitive impairment	9445	ITM2B	OMIM:176500
HP:0100543	Cognitive impairment	3425	IDUA	OMIM:607014
HP:0100543	Cognitive impairment	4669	NAGLU	OMIM:252920
HP:0100543	Cognitive impairment	220296	HEPACAM	OMIM:613925
HP:0100543	Cognitive impairment	4512	MT-CO1	ORPHA:550
HP:0100543	Cognitive impairment	4513	MT-CO2	ORPHA:550
HP:0100543	Cognitive impairment	4514	MT-CO3	ORPHA:550
HP:0100543	Cognitive impairment	4578	MT-TW	ORPHA:550
HP:0100543	Cognitive impairment	4541	MT-ND6	ORPHA:550
HP:0100543	Cognitive impairment	4535	MT-ND1	ORPHA:550
HP:0100543	Cognitive impairment	4538	MT-ND4	ORPHA:550
HP:0100543	Cognitive impairment	123606	NIPA1	ORPHA:261183
HP:0100543	Cognitive impairment	7283	TUBG1	ORPHA:261183
HP:0100543	Cognitive impairment	81614	NIPA2	ORPHA:261183
HP:0100543	Cognitive impairment	5457	POU4F1	ORPHA:314647
HP:0100543	Cognitive impairment	23261	CAMTA1	ORPHA:314647
HP:0100543	Cognitive impairment	4072	EPCAM	ORPHA:144
HP:0100543	Cognitive impairment	4292	MLH1	ORPHA:144
HP:0100543	Cognitive impairment	5395	PMS2	ORPHA:144
HP:0100543	Cognitive impairment	27030	MLH3	ORPHA:144
HP:0100543	Cognitive impairment	22909	FAN1	ORPHA:144
HP:0100543	Cognitive impairment	7048	TGFBR2	ORPHA:144
HP:0100543	Cognitive impairment	3845	KRAS	ORPHA:144
HP:0100543	Cognitive impairment	2956	MSH6	ORPHA:144
HP:0100543	Cognitive impairment	5378	PMS1	ORPHA:144
HP:0100543	Cognitive impairment	4436	MSH2	ORPHA:144
HP:0100543	Cognitive impairment	64218	SEMA4A	ORPHA:440437
HP:0100543	Cognitive impairment	657	BMPR1A	ORPHA:440437
HP:0100543	Cognitive impairment	6224	RPS20	ORPHA:440437
HP:0100543	Cognitive impairment	4884	NPTX1	OMIM:620158
HP:0100543	Cognitive impairment	84196	USP48	ORPHA:96253
HP:0100543	Cognitive impairment	9101	USP8	ORPHA:96253
HP:0100543	Cognitive impairment	64072	CDH23	ORPHA:96253
HP:0100543	Cognitive impairment	2908	NR3C1	ORPHA:96253
HP:0100543	Cognitive impairment	546	ATRX	ORPHA:96253
HP:0100543	Cognitive impairment	9692	PRORP	OMIM:619737
HP:0100543	Cognitive impairment	6843	VAMP1	OMIM:108600
HP:0100543	Cognitive impairment	6843	VAMP1	ORPHA:251282
HP:0100543	Cognitive impairment	3119	HLA-DQB1	OMIM:123400
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276238
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276244
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276241
HP:0100543	Cognitive impairment	4763	NF1	ORPHA:97685
HP:0100543	Cognitive impairment	54658	UGT1A1	ORPHA:79234
HP:0100543	Cognitive impairment	7305	TYROBP	ORPHA:2770
HP:0100543	Cognitive impairment	7305	TYROBP	OMIM:221770
HP:0100543	Cognitive impairment	2259	FGF14	ORPHA:98764
HP:0100543	Cognitive impairment	10165	SLC25A13	ORPHA:247585
HP:0100543	Cognitive impairment	10020	GNE	ORPHA:3166
HP:0100543	Cognitive impairment	84188	FAR1	ORPHA:447753
HP:0100543	Cognitive impairment	1967	EIF2B1	OMIM:603896
HP:0100543	Cognitive impairment	197322	ACSF3	ORPHA:289504
HP:0100543	Cognitive impairment	4615	MYD88	ORPHA:33226
HP:0100543	Cognitive impairment	51308	REEP2	ORPHA:401849
HP:0100543	Cognitive impairment	1893	ECM1	OMIM:247100
HP:0100543	Cognitive impairment	55367	PIDD1	OMIM:619827
HP:0100543	Cognitive impairment	149233	IL23R	ORPHA:117
HP:0100543	Cognitive impairment	3586	IL10	ORPHA:117
HP:0100543	Cognitive impairment	4210	MEFV	ORPHA:117
HP:0100543	Cognitive impairment	1230	CCR1	ORPHA:117
HP:0100543	Cognitive impairment	3592	IL12A	ORPHA:117
HP:0100543	Cognitive impairment	101928376	IL12A-AS1	ORPHA:117
HP:0100543	Cognitive impairment	7099	TLR4	ORPHA:117
HP:0100543	Cognitive impairment	3459	IFNGR1	ORPHA:117
HP:0100543	Cognitive impairment	720	C4A	ORPHA:117
HP:0100543	Cognitive impairment	337867	UBAC2	ORPHA:117
HP:0100543	Cognitive impairment	51752	ERAP1	ORPHA:117
HP:0100543	Cognitive impairment	8302	KLRC4	ORPHA:117
HP:0100543	Cognitive impairment	3073	HEXA	OMIM:272800
HP:0100543	Cognitive impairment	22796	COG2	ORPHA:435934
HP:0100543	Cognitive impairment	5354	PLP1	OMIM:312080
HP:0100543	Cognitive impairment	4297	KMT2A	ORPHA:319182
HP:0100543	Cognitive impairment	23545	ATP6V0A2	ORPHA:357074
HP:0100543	Cognitive impairment	523	ATP6V1A	ORPHA:357074
HP:0100543	Cognitive impairment	529	ATP6V1E1	ORPHA:357074
HP:0100543	Cognitive impairment	5538	PPT1	OMIM:256730
HP:0100543	Cognitive impairment	246243	RNASEH1	ORPHA:329336
HP:0100543	Cognitive impairment	1201	CLN3	OMIM:204200
HP:0100543	Cognitive impairment	6334	SCN8A	ORPHA:306
HP:0100543	Cognitive impairment	6326	SCN2A	ORPHA:306
HP:0100543	Cognitive impairment	112476	PRRT2	ORPHA:306
HP:0100543	Cognitive impairment	3785	KCNQ2	ORPHA:306
HP:0100543	Cognitive impairment	3786	KCNQ3	ORPHA:306
HP:0100543	Cognitive impairment	2584	GALK1	ORPHA:79237
HP:0100543	Cognitive impairment	2934	GSN	ORPHA:85448
HP:0100543	Cognitive impairment	26047	CNTNAP2	OMIM:610042
HP:0100543	Cognitive impairment	26047	CNTNAP2	ORPHA:163681
HP:0100543	Cognitive impairment	1387	CREBBP	ORPHA:353277
HP:0100543	Cognitive impairment	1387	CREBBP	ORPHA:353281
HP:0100543	Cognitive impairment	2033	EP300	ORPHA:353284
HP:0100543	Cognitive impairment	1312	COMT	OMIM:181500
HP:0100543	Cognitive impairment	23780	APOL2	OMIM:181500
HP:0100543	Cognitive impairment	267012	DAOA	OMIM:181500
HP:0100543	Cognitive impairment	3356	HTR2A	OMIM:181500
HP:0100543	Cognitive impairment	6854	SYN2	OMIM:181500
HP:0100543	Cognitive impairment	1814	DRD3	OMIM:181500
HP:0100543	Cognitive impairment	27184	DISC2	OMIM:181500
HP:0100543	Cognitive impairment	65078	RTN4R	OMIM:181500
HP:0100543	Cognitive impairment	80832	APOL4	OMIM:181500
HP:0100543	Cognitive impairment	1116	CHI3L1	OMIM:181500
HP:0100543	Cognitive impairment	57338	JPH3	OMIM:606438
HP:0100543	Cognitive impairment	154881	KCTD7	ORPHA:263516
HP:0100543	Cognitive impairment	2720	GLB1	OMIM:230600
HP:0100543	Cognitive impairment	285362	SUMF1	ORPHA:585
HP:0100543	Cognitive impairment	285362	SUMF1	OMIM:272200
HP:0100543	Cognitive impairment	4221	MEN1	ORPHA:97279
HP:0100543	Cognitive impairment	7528	YY1	ORPHA:97279
HP:0100543	Cognitive impairment	1512	CTSH	ORPHA:2073
HP:0100543	Cognitive impairment	5032	P2RY11	ORPHA:2073
HP:0100543	Cognitive impairment	4340	MOG	ORPHA:2073
HP:0100543	Cognitive impairment	3060	HCRT	ORPHA:2073
HP:0100543	Cognitive impairment	22891	ZNF365	ORPHA:2073
HP:0100543	Cognitive impairment	7292	TNFSF4	ORPHA:2073
HP:0100543	Cognitive impairment	3123	HLA-DRB1	ORPHA:2073
HP:0100543	Cognitive impairment	5664	PSEN2	ORPHA:1020
HP:0100543	Cognitive impairment	10452	TOMM40	ORPHA:1020
HP:0100543	Cognitive impairment	351	APP	ORPHA:1020
HP:0100543	Cognitive impairment	10347	ABCA7	ORPHA:1020
HP:0100543	Cognitive impairment	6653	SORL1	ORPHA:1020
HP:0100543	Cognitive impairment	1213	CLTC	OMIM:617854
HP:0100543	Cognitive impairment	4854	NOTCH3	ORPHA:136
HP:0100543	Cognitive impairment	3064	HTT	ORPHA:399
HP:0100543	Cognitive impairment	6515	SLC2A3	ORPHA:399
HP:0100543	Cognitive impairment	23230	VPS13A	ORPHA:2388
HP:0100543	Cognitive impairment	1760	DMPK	ORPHA:589821
HP:0100543	Cognitive impairment	7274	TTPA	OMIM:277460
HP:0100543	Cognitive impairment	50964	SOST	OMIM:269500
HP:0100543	Cognitive impairment	8243	SMC1A	OMIM:300590
HP:0100543	Cognitive impairment	4524	MTHFR	ORPHA:395
HP:0100543	Cognitive impairment	91574	MTRFR	ORPHA:254930
HP:0100543	Cognitive impairment	91574	MTRFR	OMIM:615035
HP:0100543	Cognitive impairment	91574	MTRFR	ORPHA:320375
HP:0100543	Cognitive impairment	4099	MAG	OMIM:616680
HP:0100543	Cognitive impairment	2200	FBN1	ORPHA:1885
HP:0100543	Cognitive impairment	54507	ADAMTSL4	ORPHA:1885
HP:0100543	Cognitive impairment	100996717	NOTCH2NLC	OMIM:618866
HP:0100543	Cognitive impairment	100996717	NOTCH2NLC	OMIM:603472
HP:0100543	Cognitive impairment	11284	PNKP	ORPHA:459033
HP:0100543	Cognitive impairment	11284	PNKP	OMIM:616267
HP:0100543	Cognitive impairment	4774	NFIA	OMIM:613735
HP:0100543	Cognitive impairment	2261	FGFR3	ORPHA:93274
HP:0100543	Cognitive impairment	1131	CHRM3	ORPHA:2970
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:94125
HP:0100543	Cognitive impairment	5428	POLG	OMIM:607459
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:254892
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:254886
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:70595
HP:0100543	Cognitive impairment	57165	GJC2	OMIM:608804
HP:0100543	Cognitive impairment	57165	GJC2	OMIM:613206
HP:0100543	Cognitive impairment	3074	HEXB	ORPHA:309162
HP:0100543	Cognitive impairment	51218	GLRX5	ORPHA:401866
HP:0100543	Cognitive impairment	5155	PDGFB	OMIM:615483
HP:0100543	Cognitive impairment	5155	PDGFB	ORPHA:2495
HP:0100543	Cognitive impairment	3908	LAMA2	ORPHA:258
HP:0100543	Cognitive impairment	23400	ATP13A2	ORPHA:314632
HP:0100543	Cognitive impairment	23400	ATP13A2	ORPHA:513436
HP:0100543	Cognitive impairment	6023	RMRP	ORPHA:175
HP:0100543	Cognitive impairment	28958	COA3	OMIM:619058
HP:0100543	Cognitive impairment	79868	ALG13	ORPHA:324422
HP:0100543	Cognitive impairment	347733	TUBB2B	ORPHA:300573
HP:0100543	Cognitive impairment	215	ABCD1	ORPHA:139399
HP:0100543	Cognitive impairment	1716	DGUOK	ORPHA:329314
HP:0100543	Cognitive impairment	3423	IDS	ORPHA:217085
HP:0100543	Cognitive impairment	3423	IDS	ORPHA:217093
HP:0100543	Cognitive impairment	311	ANXA11	OMIM:619733
HP:0100543	Cognitive impairment	23732	FRRS1L	ORPHA:725
HP:0100543	Cognitive impairment	2903	GRIN2A	ORPHA:725
HP:0100543	Cognitive impairment	10157	AASS	ORPHA:3124
HP:0100543	Cognitive impairment	10157	AASS	OMIM:238700
HP:0100543	Cognitive impairment	8200	GDF5	ORPHA:968
HP:0100543	Cognitive impairment	6513	SLC2A1	OMIM:601042
HP:0100543	Cognitive impairment	8131	NPRL3	ORPHA:98820
HP:0100543	Cognitive impairment	10641	NPRL2	ORPHA:98820
HP:0100543	Cognitive impairment	9681	DEPDC5	ORPHA:98820
HP:0100543	Cognitive impairment	9681	DEPDC5	ORPHA:98784
HP:0100543	Cognitive impairment	1130	LYST	ORPHA:167
HP:0100543	Cognitive impairment	6687	SPG7	OMIM:607259
HP:0100543	Cognitive impairment	1281	COL3A1	ORPHA:286
HP:0100543	Cognitive impairment	84504	NKX6-2	OMIM:617560
HP:0100543	Cognitive impairment	5297	PI4KA	OMIM:619621
HP:0100543	Cognitive impairment	23203	PMPCA	ORPHA:1170
HP:0100543	Cognitive impairment	1641	DCX	ORPHA:2148
HP:0100543	Cognitive impairment	23461	ABCA5	ORPHA:2026
HP:0100543	Cognitive impairment	9131	AIFM1	OMIM:310490
HP:0100543	Cognitive impairment	93627	TBCK	ORPHA:488632
HP:0100543	Cognitive impairment	54840	APTX	OMIM:208920
HP:0100543	Cognitive impairment	54832	VPS13C	ORPHA:2828
HP:0100543	Cognitive impairment	11315	PARK7	ORPHA:2828
HP:0100543	Cognitive impairment	7345	UCHL1	ORPHA:2828
HP:0100543	Cognitive impairment	27429	HTRA2	ORPHA:2828
HP:0100543	Cognitive impairment	120892	LRRK2	ORPHA:2828
HP:0100543	Cognitive impairment	9829	DNAJC6	ORPHA:2828
HP:0100543	Cognitive impairment	9829	DNAJC6	OMIM:615528
HP:0100543	Cognitive impairment	6622	SNCA	ORPHA:2828
HP:0100543	Cognitive impairment	6622	SNCA	ORPHA:171695
HP:0100543	Cognitive impairment	5420	PODXL	ORPHA:2828
HP:0100543	Cognitive impairment	65018	PINK1	ORPHA:2828
HP:0100543	Cognitive impairment	5071	PRKN	ORPHA:2828
HP:0100543	Cognitive impairment	55157	DARS2	OMIM:611105
HP:0100543	Cognitive impairment	4747	NEFL	ORPHA:101085
HP:0100543	Cognitive impairment	6335	SCN9A	ORPHA:36387
HP:0100543	Cognitive impairment	6335	SCN9A	ORPHA:33069
HP:0100543	Cognitive impairment	112755	STX1B	ORPHA:36387
HP:0100543	Cognitive impairment	2563	GABRD	ORPHA:36387
HP:0100543	Cognitive impairment	6323	SCN1A	ORPHA:36387
HP:0100543	Cognitive impairment	6323	SCN1A	ORPHA:33069
HP:0100543	Cognitive impairment	6324	SCN1B	ORPHA:36387
HP:0100543	Cognitive impairment	6324	SCN1B	ORPHA:33069
HP:0100543	Cognitive impairment	348980	HCN1	ORPHA:36387
HP:0100543	Cognitive impairment	84059	ADGRV1	ORPHA:36387
HP:0100543	Cognitive impairment	2566	GABRG2	ORPHA:36387
HP:0100543	Cognitive impairment	2566	GABRG2	ORPHA:33069
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:356
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:157941
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:280397
HP:0100543	Cognitive impairment	5654	HTRA1	ORPHA:199354
HP:0100543	Cognitive impairment	5654	HTRA1	OMIM:616779
HP:0100543	Cognitive impairment	339453	TMEM240	ORPHA:98773
HP:0100543	Cognitive impairment	339453	TMEM240	OMIM:607454
HP:0100543	Cognitive impairment	7840	ALMS1	ORPHA:64
HP:0100543	Cognitive impairment	9056	SLC7A7	ORPHA:470
HP:0100543	Cognitive impairment	113612	CYP2U1	OMIM:615030
HP:0100543	Cognitive impairment	113612	CYP2U1	ORPHA:320411
HP:0100543	Cognitive impairment	7157	TP53	ORPHA:2807
HP:0100543	Cognitive impairment	4952	OCRL	OMIM:300555
HP:0100543	Cognitive impairment	1593	CYP27A1	ORPHA:909
HP:0100543	Cognitive impairment	54902	TTC19	OMIM:615157
HP:0100543	Cognitive impairment	5566	PRKACA	ORPHA:189439
HP:0100543	Cognitive impairment	8622	PDE8B	ORPHA:189439
HP:0100543	Cognitive impairment	5573	PRKAR1A	ORPHA:189439
HP:0100543	Cognitive impairment	50940	PDE11A	ORPHA:189439
HP:0100543	Cognitive impairment	8314	BAP1	ORPHA:2495
HP:0100543	Cognitive impairment	4771	NF2	ORPHA:2495
HP:0100543	Cognitive impairment	6598	SMARCB1	ORPHA:2495
HP:0100543	Cognitive impairment	84231	TRAF7	ORPHA:2495
HP:0100543	Cognitive impairment	6608	SMO	ORPHA:2495
HP:0100543	Cognitive impairment	207	AKT1	ORPHA:2495
HP:0100543	Cognitive impairment	207	AKT1	ORPHA:201
HP:0100543	Cognitive impairment	5290	PIK3CA	ORPHA:2495
HP:0100543	Cognitive impairment	5290	PIK3CA	ORPHA:201
HP:0100543	Cognitive impairment	7015	TERT	ORPHA:2495
HP:0100543	Cognitive impairment	51684	SUFU	ORPHA:2495
HP:0100543	Cognitive impairment	6605	SMARCE1	ORPHA:2495
HP:0100543	Cognitive impairment	5582	PRKCG	ORPHA:98763
HP:0100543	Cognitive impairment	148789	B3GALNT2	ORPHA:588
HP:0100543	Cognitive impairment	29925	GMPPB	ORPHA:588
HP:0100543	Cognitive impairment	29925	GMPPB	ORPHA:363623
HP:0100543	Cognitive impairment	79147	FKRP	ORPHA:588
HP:0100543	Cognitive impairment	9215	LARGE1	ORPHA:588
HP:0100543	Cognitive impairment	29954	POMT2	ORPHA:588
HP:0100543	Cognitive impairment	29954	POMT2	ORPHA:206559
HP:0100543	Cognitive impairment	2218	FKTN	ORPHA:588
HP:0100543	Cognitive impairment	55624	POMGNT1	ORPHA:588
HP:0100543	Cognitive impairment	10585	POMT1	ORPHA:588
HP:0100543	Cognitive impairment	1822	ATN1	ORPHA:101
HP:0100543	Cognitive impairment	8517	IKBKG	ORPHA:464
HP:0100543	Cognitive impairment	472	ATM	ORPHA:100
HP:0100543	Cognitive impairment	5521	PPP2R2B	ORPHA:98762
HP:0100543	Cognitive impairment	80208	SPG11	ORPHA:300605
HP:0100543	Cognitive impairment	80208	SPG11	OMIM:602099
HP:0100543	Cognitive impairment	10280	SIGMAR1	ORPHA:300605
HP:0100543	Cognitive impairment	10558	SPTLC1	ORPHA:300605
HP:0100543	Cognitive impairment	57679	ALS2	ORPHA:300605
HP:0100543	Cognitive impairment	79798	ARMC5	ORPHA:189427
HP:0100543	Cognitive impairment	2778	GNAS	ORPHA:189427
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:612463
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:612462
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:103580
HP:0100543	Cognitive impairment	1356	CP	ORPHA:48818
HP:0100543	Cognitive impairment	6310	ATXN1	ORPHA:98755
HP:0100543	Cognitive impairment	6310	ATXN1	OMIM:164400
HP:0100543	Cognitive impairment	2706	GJB2	ORPHA:494
HP:0100543	Cognitive impairment	80025	PANK2	ORPHA:216873
HP:0100543	Cognitive impairment	80025	PANK2	ORPHA:216866
HP:0100543	Cognitive impairment	1282	COL4A1	OMIM:618564
HP:0100543	Cognitive impairment	9652	SKIC3	OMIM:222470
HP:0100543	Cognitive impairment	7317	UBA1	ORPHA:1145
HP:0100543	Cognitive impairment	162417	NAGS	ORPHA:927
HP:0100543	Cognitive impairment	162417	NAGS	OMIM:237310
HP:0100543	Cognitive impairment	545	ATR	ORPHA:808
HP:0100543	Cognitive impairment	1062	CENPE	ORPHA:808
HP:0100543	Cognitive impairment	5116	PCNT	ORPHA:808
HP:0100543	Cognitive impairment	5932	RBBP8	ORPHA:808
HP:0100543	Cognitive impairment	79902	NUP85	ORPHA:808
HP:0100543	Cognitive impairment	84126	ATRIP	ORPHA:808
HP:0100543	Cognitive impairment	55835	CENPJ	ORPHA:808
HP:0100543	Cognitive impairment	10293	TRAIP	ORPHA:808
HP:0100543	Cognitive impairment	22995	CEP152	ORPHA:808
HP:0100543	Cognitive impairment	10733	PLK4	ORPHA:808
HP:0100543	Cognitive impairment	2055	CLN8	ORPHA:1947
HP:0100543	Cognitive impairment	3752	KCND3	OMIM:607346
HP:0100543	Cognitive impairment	7248	TSC1	OMIM:607341
HP:0100543	Cognitive impairment	7248	TSC1	ORPHA:538
HP:0100543	Cognitive impairment	7249	TSC2	OMIM:607341
HP:0100543	Cognitive impairment	7249	TSC2	ORPHA:538
HP:0100543	Cognitive impairment	2475	MTOR	OMIM:607341
HP:0100543	Cognitive impairment	2512	FTL	ORPHA:157846
HP:0100543	Cognitive impairment	56652	TWNK	OMIM:607459
HP:0100543	Cognitive impairment	56652	TWNK	ORPHA:254892
HP:0100543	Cognitive impairment	56652	TWNK	ORPHA:70595
HP:0100543	Cognitive impairment	3798	KIF5A	ORPHA:100991
HP:0100543	Cognitive impairment	25793	FBXO7	ORPHA:171695
HP:0100543	Cognitive impairment	355	FAS	ORPHA:3437
HP:0100543	Cognitive impairment	26191	PTPN22	ORPHA:3437
HP:0100543	Cognitive impairment	120	ADD3	OMIM:617008
HP:0100543	Cognitive impairment	80207	OPA3	OMIM:258501
HP:0100543	Cognitive impairment	9573	GDF3	ORPHA:2345
HP:0100543	Cognitive impairment	392255	GDF6	ORPHA:2345
HP:0100543	Cognitive impairment	4222	MEOX1	ORPHA:2345
HP:0100543	Cognitive impairment	129880	BBS5	OMIM:615983
HP:0100543	Cognitive impairment	166379	BBS12	OMIM:615989
HP:0100543	Cognitive impairment	2245	FGD1	ORPHA:915
HP:0100543	Cognitive impairment	137492	VPS37A	OMIM:614898
HP:0100543	Cognitive impairment	55670	PEX26	ORPHA:912
HP:0100543	Cognitive impairment	5824	PEX19	ORPHA:912
HP:0100543	Cognitive impairment	5828	PEX2	ORPHA:912
HP:0100543	Cognitive impairment	8504	PEX3	ORPHA:912
HP:0100543	Cognitive impairment	8799	PEX11B	ORPHA:912
HP:0100543	Cognitive impairment	9409	PEX16	ORPHA:912
HP:0100543	Cognitive impairment	5190	PEX6	ORPHA:912
HP:0100543	Cognitive impairment	5830	PEX5	ORPHA:912
HP:0100543	Cognitive impairment	5189	PEX1	ORPHA:912
HP:0100543	Cognitive impairment	5193	PEX12	ORPHA:912
HP:0100543	Cognitive impairment	5194	PEX13	ORPHA:912
HP:0100543	Cognitive impairment	5195	PEX14	ORPHA:912
HP:0100543	Cognitive impairment	5192	PEX10	ORPHA:912
HP:0100543	Cognitive impairment	3075	CFH	OMIM:235400
HP:0100543	Cognitive impairment	3078	CFHR1	OMIM:235400
HP:0100543	Cognitive impairment	10878	CFHR3	OMIM:235400
HP:0100543	Cognitive impairment	84705	GTPBP3	ORPHA:444013
HP:0100543	Cognitive impairment	2068	ERCC2	ORPHA:910
HP:0100543	Cognitive impairment	7507	XPA	ORPHA:910
HP:0100543	Cognitive impairment	2071	ERCC3	ORPHA:910
HP:0100543	Cognitive impairment	7508	XPC	ORPHA:910
HP:0100543	Cognitive impairment	1643	DDB2	ORPHA:910
HP:0100543	Cognitive impairment	2072	ERCC4	ORPHA:910
HP:0100543	Cognitive impairment	2073	ERCC5	ORPHA:910
HP:0100543	Cognitive impairment	4558	MT-TF	ORPHA:551
HP:0100543	Cognitive impairment	4567	MT-TL1	ORPHA:551
HP:0100543	Cognitive impairment	4549	MT-RNR1	ORPHA:551
HP:0100543	Cognitive impairment	4574	MT-TS1	ORPHA:551
HP:0100543	Cognitive impairment	4575	MT-TS2	ORPHA:551
HP:0100543	Cognitive impairment	4571	MT-TP	ORPHA:551
HP:0100543	Cognitive impairment	4572	MT-TQ	ORPHA:551
HP:0100543	Cognitive impairment	4540	MT-ND5	ORPHA:551
HP:0100543	Cognitive impairment	4566	MT-TK	ORPHA:551
HP:0100543	Cognitive impairment	4564	MT-TH	ORPHA:551
HP:0100543	Cognitive impairment	2639	GCDH	ORPHA:25
HP:0100543	Cognitive impairment	291	SLC25A4	ORPHA:254892
HP:0100543	Cognitive impairment	11232	POLG2	ORPHA:254892
HP:0100543	Cognitive impairment	6492	SIM1	ORPHA:369873
HP:0100543	Cognitive impairment	92935	MARS2	OMIM:611390
HP:0100543	Cognitive impairment	6683	SPAST	ORPHA:100985
HP:0100543	Cognitive impairment	10806	SDCCAG8	OMIM:615993
HP:0100543	Cognitive impairment	54585	LZTFL1	OMIM:615994
HP:0100543	Cognitive impairment	6775	STAT4	ORPHA:93552
HP:0100543	Cognitive impairment	6696	SPP1	ORPHA:93552
HP:0100543	Cognitive impairment	3654	IRAK1	ORPHA:93552
HP:0100543	Cognitive impairment	6571	SLC18A2	ORPHA:352649
HP:0100543	Cognitive impairment	27235	COQ2	OMIM:146500
HP:0100543	Cognitive impairment	10102	TSFM	OMIM:610505
HP:0100543	Cognitive impairment	3708	ITPR1	ORPHA:208513
HP:0100543	Cognitive impairment	1908	EDN3	ORPHA:661
HP:0100543	Cognitive impairment	2668	GDNF	ORPHA:661
HP:0100543	Cognitive impairment	627	BDNF	ORPHA:661
HP:0100543	Cognitive impairment	283446	MYO1H	ORPHA:661
HP:0100543	Cognitive impairment	8929	PHOX2B	ORPHA:661
HP:0100543	Cognitive impairment	26580	BSCL2	ORPHA:363400
HP:0100543	Cognitive impairment	9150	CTDP1	OMIM:604168
HP:0100543	Cognitive impairment	3748	KCNC3	OMIM:605259
HP:0100543	Cognitive impairment	3106	HLA-B	ORPHA:29207
HP:0100543	Cognitive impairment	11235	PDCD10	ORPHA:221061
HP:0100543	Cognitive impairment	83605	CCM2	ORPHA:221061
HP:0100543	Cognitive impairment	889	KRIT1	ORPHA:221061
HP:0100543	Cognitive impairment	7084	TK2	ORPHA:254886
HP:0100543	Cognitive impairment	7084	TK2	ORPHA:254875
HP:0100543	Cognitive impairment	1436	CSF1R	OMIM:618476
HP:0100543	Cognitive impairment	54453	RIN2	ORPHA:217335
HP:0100543	Cognitive impairment	10273	STUB1	OMIM:615768
HP:0100543	Cognitive impairment	10273	STUB1	ORPHA:412057
HP:0100543	Cognitive impairment	3897	L1CAM	ORPHA:306617
HP:0100543	Cognitive impairment	9126	SMC3	OMIM:610759
HP:0100543	Cognitive impairment	10166	SLC25A15	ORPHA:415
HP:0100543	Cognitive impairment	2542	SLC37A4	ORPHA:79259
HP:0100543	Cognitive impairment	147409	DSG4	ORPHA:573
HP:0100543	Cognitive impairment	3892	KRT86	ORPHA:573
HP:0100543	Cognitive impairment	3889	KRT83	ORPHA:573
HP:0100543	Cognitive impairment	3887	KRT81	ORPHA:573
HP:0100543	Cognitive impairment	79158	GNPTAB	ORPHA:576
HP:0100543	Cognitive impairment	10059	DNM1L	ORPHA:98673
HP:0100543	Cognitive impairment	4976	OPA1	ORPHA:98673
HP:0100543	Cognitive impairment	2895	GRID2	ORPHA:363432
HP:0100543	Cognitive impairment	54551	MAGEL2	ORPHA:398069
HP:0100543	Cognitive impairment	549	AUH	OMIM:250950
HP:0100543	Cognitive impairment	2717	GLA	ORPHA:324
HP:0100543	Cognitive impairment	9217	VAPB	OMIM:608627
HP:0100543	Cognitive impairment	10483	SEC23B	ORPHA:201
HP:0100543	Cognitive impairment	5728	PTEN	ORPHA:201
HP:0100543	Cognitive impairment	6390	SDHB	ORPHA:201
HP:0100543	Cognitive impairment	6392	SDHD	ORPHA:201
HP:0100543	Cognitive impairment	6391	SDHC	ORPHA:201
HP:0100543	Cognitive impairment	205717	USF3	ORPHA:201
HP:0100543	Cognitive impairment	100144748	KLLN	ORPHA:201
HP:0100543	Cognitive impairment	2632	GBE1	OMIM:263570
HP:0100543	Cognitive impairment	1137	CHRNA4	ORPHA:98784
HP:0100543	Cognitive impairment	1135	CHRNA2	ORPHA:98784
HP:0100543	Cognitive impairment	57010	CABP4	ORPHA:98784
HP:0100543	Cognitive impairment	1141	CHRNB2	ORPHA:98784
HP:0100543	Cognitive impairment	57582	KCNT1	ORPHA:98784
HP:0100543	Cognitive impairment	1392	CRH	ORPHA:98784
HP:0100543	Cognitive impairment	9420	CYP7B1	OMIM:270800
HP:0100543	Cognitive impairment	23111	SPART	ORPHA:101000
HP:0100543	Cognitive impairment	5611	DNAJC3	OMIM:616192
HP:0100543	Cognitive impairment	6712	SPTBN2	OMIM:600224
HP:0100543	Cognitive impairment	9757	KMT2B	OMIM:617284
HP:0100543	Cognitive impairment	23395	LARS2	OMIM:615300
HP:0100543	Cognitive impairment	79827	CLMP	ORPHA:2301
HP:0100543	Cognitive impairment	2316	FLNA	ORPHA:2301
HP:0100543	Cognitive impairment	2239	GPC4	ORPHA:2662
HP:0100543	Cognitive impairment	151516	ASPRV1	ORPHA:313
HP:0100543	Cognitive impairment	242	ALOX12B	ORPHA:313
HP:0100543	Cognitive impairment	126410	CYP4F22	ORPHA:313
HP:0100543	Cognitive impairment	6820	SULT2B1	ORPHA:313
HP:0100543	Cognitive impairment	26154	ABCA12	ORPHA:313
HP:0100543	Cognitive impairment	643418	LIPN	ORPHA:313
HP:0100543	Cognitive impairment	59344	ALOXE3	ORPHA:313
HP:0100543	Cognitive impairment	348938	NIPAL4	ORPHA:313
HP:0100543	Cognitive impairment	121214	SDR9C7	ORPHA:313
HP:0100543	Cognitive impairment	7051	TGM1	ORPHA:313
HP:0100543	Cognitive impairment	1756	DMD	ORPHA:98896
HP:0100543	Cognitive impairment	8425	LTBP4	ORPHA:98896
HP:0100543	Cognitive impairment	56978	PRDM8	OMIM:616640
HP:0100543	Cognitive impairment	64840	PORCN	ORPHA:2092
HP:0100543	Cognitive impairment	6711	SPTBN1	OMIM:619475
HP:0100543	Cognitive impairment	2554	GABRA1	ORPHA:33069
HP:0100543	Cognitive impairment	57526	PCDH19	ORPHA:33069
HP:0100543	Cognitive impairment	6697	SPR	ORPHA:70594
HP:0100543	Cognitive impairment	56910	STARD7	OMIM:607876
HP:0100543	Cognitive impairment	2760	GM2A	ORPHA:309246
HP:0100543	Cognitive impairment	10939	AFG3L2	ORPHA:101109
HP:0100543	Cognitive impairment	10939	AFG3L2	OMIM:614487
HP:0100543	Cognitive impairment	9213	XPR1	OMIM:616413
HP:0100543	Cognitive impairment	79152	FA2H	ORPHA:171629
HP:0100543	Cognitive impairment	57704	GBA2	ORPHA:320391
HP:0100543	Cognitive impairment	4128	MAOA	ORPHA:3057
HP:0100543	Cognitive impairment	10137	RBM12	OMIM:617629
HP:0100543	Cognitive impairment	199221	DZIP1L	ORPHA:731
HP:0100543	Cognitive impairment	5314	PKHD1	ORPHA:731
HP:0100543	Cognitive impairment	673	BRAF	OMIM:613706
HP:0100543	Cognitive impairment	2767	GNA11	ORPHA:1556
HP:0100543	Cognitive impairment	151188	ARL6IP6	ORPHA:1556
HP:0100543	Cognitive impairment	80347	COASY	ORPHA:397725
HP:0100543	Cognitive impairment	3920	LAMP2	OMIM:300257
HP:0100543	Cognitive impairment	7518	XRCC4	OMIM:616541
HP:0100543	Cognitive impairment	200205	IBA57	OMIM:615330
HP:0100543	Cognitive impairment	8575	PRKRA	OMIM:612067
HP:0100543	Cognitive impairment	727676	SNORD118	ORPHA:542310
HP:0100543	Cognitive impairment	4621	MYH3	ORPHA:2990
HP:0100543	Cognitive impairment	1146	CHRNG	ORPHA:2990
HP:0100543	Cognitive impairment	6389	SDHA	OMIM:252011
HP:0100543	Cognitive impairment	4668	NAGA	OMIM:609242
HP:0100543	Cognitive impairment	23529	CLCF1	ORPHA:1545
HP:0100543	Cognitive impairment	9244	CRLF1	ORPHA:1545
HP:0100543	Cognitive impairment	348	APOE	OMIM:606889
HP:0100543	Cognitive impairment	8913	CACNA1G	OMIM:616795
HP:0100543	Cognitive impairment	9907	AP5Z1	ORPHA:306511
HP:0100543	Cognitive impairment	64221	ROBO3	ORPHA:2744
HP:0100543	Cognitive impairment	1630	DCC	ORPHA:2744
HP:0100543	Cognitive impairment	9373	PLAA	OMIM:617527
HP:0100543	Cognitive impairment	284217	LAMA1	ORPHA:370022
HP:0100543	Cognitive impairment	51002	TPRKB	ORPHA:2065
HP:0100543	Cognitive impairment	84942	WDR73	ORPHA:2065
HP:0100543	Cognitive impairment	55644	OSGEP	ORPHA:2065
HP:0100543	Cognitive impairment	57122	NUP107	ORPHA:2065
HP:0100543	Cognitive impairment	10785	WDR4	ORPHA:2065
HP:0100543	Cognitive impairment	55746	NUP133	ORPHA:2065
HP:0100543	Cognitive impairment	112858	TP53RK	ORPHA:2065
HP:0100543	Cognitive impairment	8270	LAGE3	ORPHA:2065
HP:0100543	Cognitive impairment	161742	SPRED1	ORPHA:137605
HP:0100543	Cognitive impairment	87178	PNPT1	OMIM:614934
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	OMIM:615604
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	OMIM:606159
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	ORPHA:157846
HP:0012343	Decreased circulating ferritin concentration	2671	GFER	ORPHA:330054
HP:0012343	Decreased circulating ferritin concentration	55532	SLC30A10	ORPHA:309854
HP:0012345	Abnormal glycosylation	283209	PGM2L1	OMIM:620191
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012345	Abnormal glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012345	Abnormal glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012345	Abnormal glycosylation	5236	PGM1	OMIM:614921
HP:0012345	Abnormal glycosylation	92344	GORAB	OMIM:231070
HP:0012345	Abnormal glycosylation	29929	ALG6	OMIM:603147
HP:0012345	Abnormal glycosylation	29929	ALG6	ORPHA:79320
HP:0012345	Abnormal glycosylation	1650	DDOST	ORPHA:300536
HP:0012345	Abnormal glycosylation	1650	DDOST	OMIM:614507
HP:0012345	Abnormal glycosylation	4351	MPI	OMIM:602579
HP:0012345	Abnormal glycosylation	8813	DPM1	OMIM:608799
HP:0012345	Abnormal glycosylation	6748	SSR4	OMIM:300934
HP:0012345	Abnormal glycosylation	85365	ALG2	OMIM:607906
HP:0012345	Abnormal glycosylation	85365	ALG2	ORPHA:79326
HP:0012345	Abnormal glycosylation	1798	DPAGT1	OMIM:608093
HP:0012345	Abnormal glycosylation	8818	DPM2	ORPHA:329178
HP:0012345	Abnormal glycosylation	22845	DOLK	ORPHA:91131
HP:0012345	Abnormal glycosylation	22845	DOLK	OMIM:610768
HP:0012345	Abnormal glycosylation	9526	MPDU1	ORPHA:79323
HP:0012345	Abnormal glycosylation	79053	ALG8	ORPHA:79325
HP:0012345	Abnormal glycosylation	79053	ALG8	OMIM:608104
HP:0012345	Abnormal glycosylation	79087	ALG12	OMIM:607143
HP:0012345	Abnormal glycosylation	10195	ALG3	OMIM:601110
HP:0012345	Abnormal glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012345	Abnormal glycosylation	79644	SRD5A3	OMIM:612379
HP:0012345	Abnormal glycosylation	84061	MAGT1	OMIM:301031
HP:0012345	Abnormal glycosylation	440138	ALG11	ORPHA:280071
HP:0012345	Abnormal glycosylation	440138	ALG11	OMIM:613661
HP:0012345	Abnormal glycosylation	79868	ALG13	OMIM:300884
HP:0012345	Abnormal glycosylation	91869	RFT1	OMIM:612015
HP:0012345	Abnormal glycosylation	54344	DPM3	OMIM:612937
HP:0012345	Abnormal glycosylation	56052	ALG1	OMIM:608540
HP:0012345	Abnormal glycosylation	5373	PMM2	OMIM:212065
HP:0012345	Abnormal glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012345	Abnormal glycosylation	25839	COG4	ORPHA:263501
HP:0012345	Abnormal glycosylation	25839	COG4	OMIM:613489
HP:0012345	Abnormal glycosylation	91949	COG7	OMIM:608779
HP:0012345	Abnormal glycosylation	91949	COG7	ORPHA:79333
HP:0012345	Abnormal glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012345	Abnormal glycosylation	84342	COG8	OMIM:611182
HP:0012345	Abnormal glycosylation	537	ATP6AP1	OMIM:300972
HP:0012345	Abnormal glycosylation	57511	COG6	OMIM:614576
HP:0012345	Abnormal glycosylation	2542	SLC37A4	OMIM:619525
HP:0012345	Abnormal glycosylation	10466	COG5	OMIM:613612
HP:0012345	Abnormal glycosylation	819	CAMLG	OMIM:620201
HP:0012345	Abnormal glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012345	Abnormal glycosylation	4247	MGAT2	OMIM:212066
HP:0012345	Abnormal glycosylation	2683	B4GALT1	ORPHA:79332
HP:0012345	Abnormal glycosylation	51608	GET4	OMIM:620200
HP:0012345	Abnormal glycosylation	9382	COG1	OMIM:611209
HP:0012345	Abnormal glycosylation	9382	COG1	ORPHA:263508
HP:0012345	Abnormal glycosylation	790	CAD	OMIM:616457
HP:0012345	Abnormal glycosylation	201595	STT3B	OMIM:615597
HP:0012345	Abnormal glycosylation	201595	STT3B	ORPHA:370924
HP:0012345	Abnormal glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012345	Abnormal glycosylation	84317	CCDC115	OMIM:616828
HP:0012345	Abnormal glycosylation	22796	COG2	OMIM:617395
HP:0012345	Abnormal glycosylation	3703	STT3A	OMIM:615596
HP:0012345	Abnormal glycosylation	3703	STT3A	ORPHA:370921
HP:0012345	Abnormal glycosylation	80267	EDEM3	OMIM:619493
HP:0012345	Abnormal glycosylation	147007	TMEM199	OMIM:616829
HP:0012345	Abnormal glycosylation	2590	GALNT2	OMIM:618885
HP:0012346	Abnormal protein glycosylation	283209	PGM2L1	OMIM:620191
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012346	Abnormal protein glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	5236	PGM1	OMIM:614921
HP:0012346	Abnormal protein glycosylation	92344	GORAB	OMIM:231070
HP:0012346	Abnormal protein glycosylation	29929	ALG6	OMIM:603147
HP:0012346	Abnormal protein glycosylation	29929	ALG6	ORPHA:79320
HP:0012346	Abnormal protein glycosylation	1650	DDOST	ORPHA:300536
HP:0012346	Abnormal protein glycosylation	1650	DDOST	OMIM:614507
HP:0012346	Abnormal protein glycosylation	4351	MPI	OMIM:602579
HP:0012346	Abnormal protein glycosylation	8813	DPM1	OMIM:608799
HP:0012346	Abnormal protein glycosylation	6748	SSR4	OMIM:300934
HP:0012346	Abnormal protein glycosylation	85365	ALG2	OMIM:607906
HP:0012346	Abnormal protein glycosylation	85365	ALG2	ORPHA:79326
HP:0012346	Abnormal protein glycosylation	1798	DPAGT1	OMIM:608093
HP:0012346	Abnormal protein glycosylation	8818	DPM2	ORPHA:329178
HP:0012346	Abnormal protein glycosylation	22845	DOLK	ORPHA:91131
HP:0012346	Abnormal protein glycosylation	22845	DOLK	OMIM:610768
HP:0012346	Abnormal protein glycosylation	9526	MPDU1	ORPHA:79323
HP:0012346	Abnormal protein glycosylation	79053	ALG8	ORPHA:79325
HP:0012346	Abnormal protein glycosylation	79053	ALG8	OMIM:608104
HP:0012346	Abnormal protein glycosylation	79087	ALG12	OMIM:607143
HP:0012346	Abnormal protein glycosylation	10195	ALG3	OMIM:601110
HP:0012346	Abnormal protein glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012346	Abnormal protein glycosylation	79644	SRD5A3	OMIM:612379
HP:0012346	Abnormal protein glycosylation	84061	MAGT1	OMIM:301031
HP:0012346	Abnormal protein glycosylation	440138	ALG11	ORPHA:280071
HP:0012346	Abnormal protein glycosylation	440138	ALG11	OMIM:613661
HP:0012346	Abnormal protein glycosylation	79868	ALG13	OMIM:300884
HP:0012346	Abnormal protein glycosylation	91869	RFT1	OMIM:612015
HP:0012346	Abnormal protein glycosylation	54344	DPM3	OMIM:612937
HP:0012346	Abnormal protein glycosylation	56052	ALG1	OMIM:608540
HP:0012346	Abnormal protein glycosylation	5373	PMM2	OMIM:212065
HP:0012346	Abnormal protein glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012346	Abnormal protein glycosylation	25839	COG4	ORPHA:263501
HP:0012346	Abnormal protein glycosylation	25839	COG4	OMIM:613489
HP:0012346	Abnormal protein glycosylation	91949	COG7	OMIM:608779
HP:0012346	Abnormal protein glycosylation	91949	COG7	ORPHA:79333
HP:0012346	Abnormal protein glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012346	Abnormal protein glycosylation	84342	COG8	OMIM:611182
HP:0012346	Abnormal protein glycosylation	537	ATP6AP1	OMIM:300972
HP:0012346	Abnormal protein glycosylation	57511	COG6	OMIM:614576
HP:0012346	Abnormal protein glycosylation	2542	SLC37A4	OMIM:619525
HP:0012346	Abnormal protein glycosylation	10466	COG5	OMIM:613612
HP:0012346	Abnormal protein glycosylation	819	CAMLG	OMIM:620201
HP:0012346	Abnormal protein glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012346	Abnormal protein glycosylation	4247	MGAT2	OMIM:212066
HP:0012346	Abnormal protein glycosylation	2683	B4GALT1	ORPHA:79332
HP:0012346	Abnormal protein glycosylation	51608	GET4	OMIM:620200
HP:0012346	Abnormal protein glycosylation	9382	COG1	OMIM:611209
HP:0012346	Abnormal protein glycosylation	9382	COG1	ORPHA:263508
HP:0012346	Abnormal protein glycosylation	80267	EDEM3	OMIM:619493
HP:0012346	Abnormal protein glycosylation	147007	TMEM199	OMIM:616829
HP:0012346	Abnormal protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012346	Abnormal protein glycosylation	2590	GALNT2	OMIM:618885
HP:0012347	Abnormal protein N-linked glycosylation	283209	PGM2L1	OMIM:620191
HP:0012347	Abnormal protein N-linked glycosylation	10466	COG5	ORPHA:263487
HP:0012347	Abnormal protein N-linked glycosylation	57511	COG6	ORPHA:363523
HP:0012347	Abnormal protein N-linked glycosylation	7355	SLC35A2	OMIM:300896
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012347	Abnormal protein N-linked glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	5236	PGM1	OMIM:614921
HP:0012347	Abnormal protein N-linked glycosylation	2683	B4GALT1	OMIM:607091
HP:0012347	Abnormal protein N-linked glycosylation	92344	GORAB	OMIM:231070
HP:0012347	Abnormal protein N-linked glycosylation	29929	ALG6	OMIM:603147
HP:0012347	Abnormal protein N-linked glycosylation	29929	ALG6	ORPHA:79320
HP:0012347	Abnormal protein N-linked glycosylation	1650	DDOST	ORPHA:300536
HP:0012347	Abnormal protein N-linked glycosylation	1650	DDOST	OMIM:614507
HP:0012347	Abnormal protein N-linked glycosylation	4351	MPI	OMIM:602579
HP:0012347	Abnormal protein N-linked glycosylation	8813	DPM1	OMIM:608799
HP:0012347	Abnormal protein N-linked glycosylation	6748	SSR4	OMIM:300934
HP:0012347	Abnormal protein N-linked glycosylation	85365	ALG2	OMIM:607906
HP:0012347	Abnormal protein N-linked glycosylation	85365	ALG2	ORPHA:79326
HP:0012347	Abnormal protein N-linked glycosylation	1798	DPAGT1	OMIM:608093
HP:0012347	Abnormal protein N-linked glycosylation	8818	DPM2	ORPHA:329178
HP:0012347	Abnormal protein N-linked glycosylation	22845	DOLK	ORPHA:91131
HP:0012347	Abnormal protein N-linked glycosylation	22845	DOLK	OMIM:610768
HP:0012347	Abnormal protein N-linked glycosylation	9526	MPDU1	ORPHA:79323
HP:0012347	Abnormal protein N-linked glycosylation	79053	ALG8	ORPHA:79325
HP:0012347	Abnormal protein N-linked glycosylation	79053	ALG8	OMIM:608104
HP:0012347	Abnormal protein N-linked glycosylation	79087	ALG12	OMIM:607143
HP:0012347	Abnormal protein N-linked glycosylation	10195	ALG3	OMIM:601110
HP:0012347	Abnormal protein N-linked glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012347	Abnormal protein N-linked glycosylation	79644	SRD5A3	OMIM:612379
HP:0012347	Abnormal protein N-linked glycosylation	84061	MAGT1	OMIM:301031
HP:0012347	Abnormal protein N-linked glycosylation	440138	ALG11	ORPHA:280071
HP:0012347	Abnormal protein N-linked glycosylation	440138	ALG11	OMIM:613661
HP:0012347	Abnormal protein N-linked glycosylation	79868	ALG13	OMIM:300884
HP:0012347	Abnormal protein N-linked glycosylation	91869	RFT1	OMIM:612015
HP:0012347	Abnormal protein N-linked glycosylation	54344	DPM3	OMIM:612937
HP:0012347	Abnormal protein N-linked glycosylation	56052	ALG1	OMIM:608540
HP:0012347	Abnormal protein N-linked glycosylation	5373	PMM2	OMIM:212065
HP:0012347	Abnormal protein N-linked glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012347	Abnormal protein N-linked glycosylation	25839	COG4	ORPHA:263501
HP:0012347	Abnormal protein N-linked glycosylation	25839	COG4	OMIM:613489
HP:0012347	Abnormal protein N-linked glycosylation	91949	COG7	OMIM:608779
HP:0012347	Abnormal protein N-linked glycosylation	91949	COG7	ORPHA:79333
HP:0012347	Abnormal protein N-linked glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012347	Abnormal protein N-linked glycosylation	84342	COG8	OMIM:611182
HP:0012347	Abnormal protein N-linked glycosylation	537	ATP6AP1	OMIM:300972
HP:0012347	Abnormal protein N-linked glycosylation	2542	SLC37A4	OMIM:619525
HP:0012347	Abnormal protein N-linked glycosylation	819	CAMLG	OMIM:620201
HP:0012347	Abnormal protein N-linked glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012347	Abnormal protein N-linked glycosylation	4247	MGAT2	OMIM:212066
HP:0012347	Abnormal protein N-linked glycosylation	51608	GET4	OMIM:620200
HP:0012347	Abnormal protein N-linked glycosylation	9382	COG1	OMIM:611209
HP:0012347	Abnormal protein N-linked glycosylation	9382	COG1	ORPHA:263508
HP:0012347	Abnormal protein N-linked glycosylation	80267	EDEM3	OMIM:619493
HP:0012347	Abnormal protein N-linked glycosylation	147007	TMEM199	OMIM:616829
HP:0012348	Decreased galactosylation of N-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012340	Decreased resting energy expenditure	154	ADRB2	OMIM:601665
HP:0012340	Decreased resting energy expenditure	155	ADRB3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5167	ENPP1	OMIM:601665
HP:0012340	Decreased resting energy expenditure	7352	UCP3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	8431	NR0B2	OMIM:601665
HP:0012340	Decreased resting energy expenditure	9607	CARTPT	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5443	POMC	OMIM:601665
HP:0012340	Decreased resting energy expenditure	51738	GHRL	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5468	PPARG	OMIM:601665
HP:0012340	Decreased resting energy expenditure	9672	SDC3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	181	AGRP	OMIM:601665
HP:0012340	Decreased resting energy expenditure	55768	NGLY1	ORPHA:404454
HP:0002132	Porencephalic cyst	79709	COLGALT1	OMIM:618360
HP:0002132	Porencephalic cyst	3912	LAMB1	OMIM:615191
HP:0002132	Porencephalic cyst	6628	SNRPB	ORPHA:1393
HP:0002132	Porencephalic cyst	6628	SNRPB	OMIM:117650
HP:0002132	Porencephalic cyst	65250	CPLANE1	OMIM:277170
HP:0002132	Porencephalic cyst	1284	COL4A2	OMIM:614483
HP:0002132	Porencephalic cyst	8985	PLOD3	OMIM:612394
HP:0002132	Porencephalic cyst	3265	HRAS	ORPHA:2612
HP:0002132	Porencephalic cyst	3845	KRAS	ORPHA:2612
HP:0002132	Porencephalic cyst	4893	NRAS	ORPHA:2612
HP:0002132	Porencephalic cyst	2260	FGFR1	OMIM:613001
HP:0002132	Porencephalic cyst	9326	ZNHIT3	ORPHA:2836
HP:0002132	Porencephalic cyst	547	KIF1A	ORPHA:2836
HP:0002132	Porencephalic cyst	8481	OFD1	OMIM:311200
HP:0002132	Porencephalic cyst	1282	COL4A1	OMIM:175780
HP:0002132	Porencephalic cyst	10535	RNASEH2A	ORPHA:51
HP:0002132	Porencephalic cyst	84153	RNASEH2C	ORPHA:51
HP:0002132	Porencephalic cyst	25939	SAMHD1	ORPHA:51
HP:0002132	Porencephalic cyst	79621	RNASEH2B	ORPHA:51
HP:0002132	Porencephalic cyst	103	ADAR	ORPHA:51
HP:0002132	Porencephalic cyst	11277	TREX1	ORPHA:51
HP:0002132	Porencephalic cyst	100147744	RNU7-1	ORPHA:51
HP:0002132	Porencephalic cyst	134353	LSM11	ORPHA:51
HP:0002132	Porencephalic cyst	64135	IFIH1	ORPHA:51
HP:0002132	Porencephalic cyst	3516	RBPJ	ORPHA:974
HP:0002132	Porencephalic cyst	4851	NOTCH1	ORPHA:974
HP:0002132	Porencephalic cyst	57514	ARHGAP31	ORPHA:974
HP:0002132	Porencephalic cyst	57572	DOCK6	ORPHA:974
HP:0002132	Porencephalic cyst	285203	EOGT	ORPHA:974
HP:0002132	Porencephalic cyst	54567	DLL4	ORPHA:974
HP:0002132	Porencephalic cyst	26123	TCTN3	OMIM:258860
HP:0002132	Porencephalic cyst	2879	GPX4	OMIM:250220
HP:0002133	Status epilepticus	4702	NDUFA8	OMIM:619272
HP:0002133	Status epilepticus	10059	DNM1L	ORPHA:330050
HP:0002133	Status epilepticus	10059	DNM1L	OMIM:614388
HP:0002133	Status epilepticus	7915	ALDH5A1	ORPHA:22
HP:0002133	Status epilepticus	7915	ALDH5A1	OMIM:271980
HP:0002133	Status epilepticus	340533	NEXMIF	OMIM:300912
HP:0002133	Status epilepticus	10785	WDR4	OMIM:618346
HP:0002133	Status epilepticus	348980	HCN1	OMIM:615871
HP:0002133	Status epilepticus	348980	HCN1	ORPHA:442835
HP:0002133	Status epilepticus	348980	HCN1	ORPHA:36387
HP:0002133	Status epilepticus	23241	PACS2	OMIM:618067
HP:0002133	Status epilepticus	114327	EFHC1	OMIM:254770
HP:0002133	Status epilepticus	114327	EFHC1	ORPHA:307
HP:0002133	Status epilepticus	100151683	RNU4ATAC	OMIM:210710
HP:0002133	Status epilepticus	100151683	RNU4ATAC	ORPHA:2636
HP:0002133	Status epilepticus	2904	GRIN2B	OMIM:613970
HP:0002133	Status epilepticus	92335	STRADA	ORPHA:500533
HP:0002133	Status epilepticus	478	ATP1A3	OMIM:614820
HP:0002133	Status epilepticus	478	ATP1A3	OMIM:619606
HP:0002133	Status epilepticus	478	ATP1A3	ORPHA:442835
HP:0002133	Status epilepticus	478	ATP1A3	ORPHA:2131
HP:0002133	Status epilepticus	2563	GABRD	ORPHA:307
HP:0002133	Status epilepticus	2563	GABRD	ORPHA:36387
HP:0002133	Status epilepticus	1181	CLCN2	ORPHA:307
HP:0002133	Status epilepticus	3786	KCNQ3	ORPHA:307
HP:0002133	Status epilepticus	3786	KCNQ3	ORPHA:306
HP:0002133	Status epilepticus	3786	KCNQ3	ORPHA:1949
HP:0002133	Status epilepticus	22858	CILK1	ORPHA:307
HP:0002133	Status epilepticus	8629	JRK	ORPHA:307
HP:0002133	Status epilepticus	785	CACNB4	ORPHA:307
HP:0002133	Status epilepticus	6334	SCN8A	ORPHA:306
HP:0002133	Status epilepticus	6334	SCN8A	ORPHA:442835
HP:0002133	Status epilepticus	112476	PRRT2	ORPHA:306
HP:0002133	Status epilepticus	112476	PRRT2	ORPHA:569
HP:0002133	Status epilepticus	3785	KCNQ2	ORPHA:306
HP:0002133	Status epilepticus	3785	KCNQ2	ORPHA:1949
HP:0002133	Status epilepticus	79813	EHMT1	ORPHA:96147
HP:0002133	Status epilepticus	23600	AMACR	OMIM:614307
HP:0002133	Status epilepticus	501	ALDH7A1	OMIM:266100
HP:0002133	Status epilepticus	501	ALDH7A1	ORPHA:3006
HP:0002133	Status epilepticus	26580	BSCL2	ORPHA:363400
HP:0002133	Status epilepticus	64801	ARV1	OMIM:617020
HP:0002133	Status epilepticus	64801	ARV1	ORPHA:442835
HP:0002133	Status epilepticus	79587	CARS2	ORPHA:477774
HP:0002133	Status epilepticus	79587	CARS2	OMIM:616672
HP:0002133	Status epilepticus	6651	SON	OMIM:617140
HP:0002133	Status epilepticus	5859	QARS1	OMIM:615760
HP:0002133	Status epilepticus	51741	WWOX	OMIM:616211
HP:0002133	Status epilepticus	51741	WWOX	ORPHA:442835
HP:0002133	Status epilepticus	1352	COX10	OMIM:619046
HP:0002133	Status epilepticus	57582	KCNT1	OMIM:615005
HP:0002133	Status epilepticus	57582	KCNT1	OMIM:614959
HP:0002133	Status epilepticus	57465	TBC1D24	ORPHA:352596
HP:0002133	Status epilepticus	57465	TBC1D24	OMIM:615338
HP:0002133	Status epilepticus	1841	DTYMK	OMIM:619847
HP:0002133	Status epilepticus	790	CAD	OMIM:616457
HP:0002133	Status epilepticus	1106	CHD2	OMIM:615369
HP:0002133	Status epilepticus	2782	GNB1	OMIM:616973
HP:0002133	Status epilepticus	7532	YWHAG	OMIM:617665
HP:0002133	Status epilepticus	7532	YWHAG	ORPHA:442835
HP:0002133	Status epilepticus	55163	PNPO	ORPHA:79096
HP:0002133	Status epilepticus	129563	DIS3L2	ORPHA:2849
HP:0002133	Status epilepticus	5290	PIK3CA	ORPHA:99802
HP:0002133	Status epilepticus	2475	MTOR	ORPHA:99802
HP:0002133	Status epilepticus	10000	AKT3	ORPHA:99802
HP:0002133	Status epilepticus	6833	ABCC8	ORPHA:276575
HP:0002133	Status epilepticus	8869	ST3GAL5	OMIM:609056
HP:0002133	Status epilepticus	3767	KCNJ11	ORPHA:276580
HP:0002133	Status epilepticus	27235	COQ2	OMIM:607426
HP:0002133	Status epilepticus	23221	RHOBTB2	OMIM:618004
HP:0002133	Status epilepticus	100131801	PET100	OMIM:619055
HP:0002133	Status epilepticus	8120	AP3B2	OMIM:617276
HP:0002133	Status epilepticus	8120	AP3B2	ORPHA:442835
HP:0002133	Status epilepticus	5530	PPP3CA	OMIM:617711
HP:0002133	Status epilepticus	5530	PPP3CA	ORPHA:442835
HP:0002133	Status epilepticus	1889	ECE1	OMIM:613870
HP:0002133	Status epilepticus	23545	ATP6V0A2	ORPHA:2834
HP:0002133	Status epilepticus	4915	NTRK2	OMIM:617830
HP:0002133	Status epilepticus	4915	NTRK2	ORPHA:442835
HP:0002133	Status epilepticus	2917	GRM7	OMIM:618922
HP:0002133	Status epilepticus	1509	CTSD	OMIM:610127
HP:0002133	Status epilepticus	51608	GET4	OMIM:620200
HP:0002133	Status epilepticus	477	ATP1A2	ORPHA:569
HP:0002133	Status epilepticus	477	ATP1A2	ORPHA:442835
HP:0002133	Status epilepticus	477	ATP1A2	ORPHA:2131
HP:0002133	Status epilepticus	11212	PLPBP	ORPHA:3006
HP:0002133	Status epilepticus	54539	NDUFB11	ORPHA:2556
HP:0002133	Status epilepticus	1349	COX7B	ORPHA:2556
HP:0002133	Status epilepticus	3052	HCCS	ORPHA:2556
HP:0002133	Status epilepticus	84342	COG8	OMIM:611182
HP:0002133	Status epilepticus	132158	GLYCTK	OMIM:220120
HP:0002133	Status epilepticus	833	CARS1	OMIM:618891
HP:0002133	Status epilepticus	4700	NDUFA6	OMIM:618253
HP:0002133	Status epilepticus	2257	FGF12	OMIM:617166
HP:0002133	Status epilepticus	2257	FGF12	ORPHA:442835
HP:0002133	Status epilepticus	128637	TBC1D20	OMIM:615663
HP:0002133	Status epilepticus	84300	UQCC2	OMIM:615824
HP:0002133	Status epilepticus	6304	SATB1	OMIM:619229
HP:0002133	Status epilepticus	79731	NARS2	OMIM:616239
HP:0002133	Status epilepticus	3737	KCNA2	ORPHA:442835
HP:0002133	Status epilepticus	1759	DNM1	ORPHA:442835
HP:0002133	Status epilepticus	523	ATP6V1A	ORPHA:442835
HP:0002133	Status epilepticus	10991	SLC38A3	ORPHA:442835
HP:0002133	Status epilepticus	51343	FZR1	ORPHA:442835
HP:0002133	Status epilepticus	22906	TRAK1	ORPHA:442835
HP:0002133	Status epilepticus	22906	TRAK1	OMIM:618201
HP:0002133	Status epilepticus	1917	EEF1A2	ORPHA:442835
HP:0002133	Status epilepticus	2561	GABRB2	ORPHA:442835
HP:0002133	Status epilepticus	8831	SYNGAP1	ORPHA:442835
HP:0002133	Status epilepticus	79876	UBA5	ORPHA:442835
HP:0002133	Status epilepticus	6328	SCN3A	ORPHA:442835
HP:0002133	Status epilepticus	2558	GABRA5	ORPHA:442835
HP:0002133	Status epilepticus	2558	GABRA5	OMIM:618559
HP:0002133	Status epilepticus	781	CACNA2D1	ORPHA:442835
HP:0002133	Status epilepticus	2906	GRIN2D	ORPHA:442835
HP:0002133	Status epilepticus	116150	NUS1	ORPHA:442835
HP:0002133	Status epilepticus	116150	NUS1	OMIM:617082
HP:0002133	Status epilepticus	10659	CELF2	ORPHA:442835
HP:0002133	Status epilepticus	774	CACNA1B	ORPHA:442835
HP:0002133	Status epilepticus	1213	CLTC	ORPHA:442835
HP:0002133	Status epilepticus	23334	SZT2	ORPHA:442835
HP:0002133	Status epilepticus	51412	ACTL6B	ORPHA:442835
HP:0002133	Status epilepticus	6506	SLC1A2	ORPHA:442835
HP:0002133	Status epilepticus	2258	FGF13	ORPHA:442835
HP:0002133	Status epilepticus	3745	KCNB1	ORPHA:442835
HP:0002133	Status epilepticus	284111	SLC13A5	ORPHA:442835
HP:0002133	Status epilepticus	284111	SLC13A5	OMIM:615905
HP:0002133	Status epilepticus	25977	NECAP1	ORPHA:442835
HP:0002133	Status epilepticus	16	AARS1	ORPHA:442835
HP:0002133	Status epilepticus	22866	CNKSR2	ORPHA:442835
HP:0002133	Status epilepticus	9568	GABBR2	ORPHA:442835
HP:0002133	Status epilepticus	2555	GABRA2	ORPHA:442835
HP:0002133	Status epilepticus	2555	GABRA2	OMIM:618557
HP:0002133	Status epilepticus	55152	DALRD3	ORPHA:442835
HP:0002133	Status epilepticus	26999	CYFIP2	ORPHA:442835
HP:0002133	Status epilepticus	25973	PARS2	ORPHA:442835
HP:0002133	Status epilepticus	23097	CDK19	ORPHA:442835
HP:0002133	Status epilepticus	79947	DHDDS	ORPHA:442835
HP:0002133	Status epilepticus	112755	STX1B	ORPHA:36387
HP:0002133	Status epilepticus	84059	ADGRV1	ORPHA:36387
HP:0002133	Status epilepticus	5660	PSAP	OMIM:610539
HP:0002133	Status epilepticus	10522	DEAF1	OMIM:617171
HP:0002133	Status epilepticus	10522	DEAF1	ORPHA:468620
HP:0002133	Status epilepticus	2892	GRIA3	ORPHA:364028
HP:0002133	Status epilepticus	10367	MICU1	OMIM:615673
HP:0002133	Status epilepticus	6812	STXBP1	OMIM:612164
HP:0002133	Status epilepticus	94005	PIGS	OMIM:618143
HP:0002133	Status epilepticus	57468	SLC12A5	OMIM:616645
HP:0002133	Status epilepticus	3704	ITPA	OMIM:616647
HP:0002133	Status epilepticus	6507	SLC1A3	ORPHA:2131
HP:0002133	Status epilepticus	8659	ALDH4A1	ORPHA:79101
HP:0002133	Status epilepticus	378884	NHLRC1	ORPHA:501
HP:0002133	Status epilepticus	7957	EPM2A	ORPHA:501
HP:0002133	Status epilepticus	25814	ATXN10	ORPHA:98761
HP:0002133	Status epilepticus	283209	PGM2L1	OMIM:620191
HP:0002133	Status epilepticus	6595	SMARCA2	ORPHA:3051
HP:0002133	Status epilepticus	170302	ARX	ORPHA:3175
HP:0002133	Status epilepticus	1718	DHCR24	ORPHA:35107
HP:0002133	Status epilepticus	8915	BCL10	OMIM:616098
HP:0002133	Status epilepticus	8733	GPAA1	ORPHA:529665
HP:0002133	Status epilepticus	9896	FIG4	OMIM:612691
HP:0002133	Status epilepticus	50485	SMARCAL1	ORPHA:1830
HP:0002133	Status epilepticus	2893	GRIA4	OMIM:617864
HP:0002133	Status epilepticus	3832	KIF11	ORPHA:2526
HP:0002133	Status epilepticus	55704	CCDC88A	OMIM:617507
HP:0002133	Status epilepticus	476	ATP1A1	OMIM:618314
HP:0002133	Status epilepticus	476	ATP1A1	ORPHA:564178
HP:0002133	Status epilepticus	5625	PRODH	OMIM:239500
HP:0002133	Status epilepticus	2271	FH	OMIM:606812
HP:0002133	Status epilepticus	9922	IQSEC1	OMIM:618687
HP:0002133	Status epilepticus	777	CACNA1E	OMIM:618285
HP:0002133	Status epilepticus	84823	LMNB2	OMIM:616540
HP:0002133	Status epilepticus	26047	CNTNAP2	OMIM:610042
HP:0002133	Status epilepticus	738	VPS51	OMIM:618606
HP:0002133	Status epilepticus	3458	IFNG	ORPHA:805
HP:0002133	Status epilepticus	7248	TSC1	ORPHA:805
HP:0002133	Status epilepticus	7249	TSC2	ORPHA:805
HP:0002133	Status epilepticus	374969	SVBP	OMIM:618569
HP:0002133	Status epilepticus	3778	KCNMA1	OMIM:618729
HP:0002133	Status epilepticus	4204	MECP2	OMIM:300260
HP:0002133	Status epilepticus	80704	SLC19A3	ORPHA:263410
HP:0002133	Status epilepticus	51733	UPB1	OMIM:613161
HP:0002133	Status epilepticus	50484	RRM2B	OMIM:612075
HP:0002133	Status epilepticus	51693	TRAPPC2L	OMIM:618331
HP:0002133	Status epilepticus	55753	OGDHL	OMIM:619701
HP:0002133	Status epilepticus	7407	VARS1	OMIM:617802
HP:0002133	Status epilepticus	7351	UCP2	ORPHA:276556
HP:0002133	Status epilepticus	92609	TIMM50	ORPHA:505216
HP:0002133	Status epilepticus	5277	PIGA	OMIM:301072
HP:0002133	Status epilepticus	2902	GRIN1	ORPHA:208447
HP:0002133	Status epilepticus	7187	TRAF3	ORPHA:1930
HP:0002133	Status epilepticus	81622	UNC93B1	ORPHA:1930
HP:0002133	Status epilepticus	148022	TICAM1	ORPHA:1930
HP:0002133	Status epilepticus	7098	TLR3	ORPHA:1930
HP:0002133	Status epilepticus	29110	TBK1	ORPHA:1930
HP:0002133	Status epilepticus	4221	MEN1	ORPHA:652
HP:0002133	Status epilepticus	1027	CDKN1B	ORPHA:652
HP:0002133	Status epilepticus	1026	CDKN1A	ORPHA:652
HP:0002133	Status epilepticus	1030	CDKN2B	ORPHA:652
HP:0002133	Status epilepticus	1031	CDKN2C	ORPHA:652
HP:0002133	Status epilepticus	56997	COQ8A	OMIM:612016
HP:0002133	Status epilepticus	29960	MRM2	OMIM:618567
HP:0002133	Status epilepticus	5428	POLG	OMIM:203700
HP:0002133	Status epilepticus	6335	SCN9A	ORPHA:33069
HP:0002133	Status epilepticus	6326	SCN2A	ORPHA:33069
HP:0002133	Status epilepticus	2554	GABRA1	ORPHA:33069
HP:0002133	Status epilepticus	6323	SCN1A	ORPHA:33069
HP:0002133	Status epilepticus	6324	SCN1B	ORPHA:33069
HP:0002133	Status epilepticus	57526	PCDH19	ORPHA:33069
HP:0002133	Status epilepticus	2566	GABRG2	ORPHA:33069
HP:0002133	Status epilepticus	56652	TWNK	OMIM:271245
HP:0002133	Status epilepticus	54982	CLN6	OMIM:204300
HP:0002133	Status epilepticus	3192	HNRNPU	OMIM:617391
HP:0002133	Status epilepticus	135	ADORA2A	ORPHA:363549
HP:0002133	Status epilepticus	8604	SLC25A12	OMIM:612949
HP:0002133	Status epilepticus	773	CACNA1A	OMIM:617106
HP:0002133	Status epilepticus	23031	MAST3	OMIM:620115
HP:0002133	Status epilepticus	6513	SLC2A1	OMIM:608885
HP:0002133	Status epilepticus	5830	PEX5	OMIM:616716
HP:0002133	Status epilepticus	8867	SYNJ1	OMIM:617389
HP:0002133	Status epilepticus	6844	VAMP2	OMIM:618760
HP:0002133	Status epilepticus	5138	PDE2A	OMIM:619150
HP:0002133	Status epilepticus	57107	PDSS2	OMIM:614652
HP:0002133	Status epilepticus	221927	BRAT1	OMIM:614498
HP:0002133	Status epilepticus	23219	FBXO28	OMIM:619777
HP:0002133	Status epilepticus	427	ASAH1	ORPHA:2590
HP:0002133	Status epilepticus	9570	GOSR2	OMIM:614018
HP:0002133	Status epilepticus	154881	KCTD7	OMIM:611726
HP:0002133	Status epilepticus	3747	KCNC2	OMIM:619913
HP:0002133	Status epilepticus	4953	ODC1	ORPHA:544488
HP:0002133	Status epilepticus	2903	GRIN2A	ORPHA:98818
HP:0002133	Status epilepticus	539	ATP5PO	OMIM:620359
HP:0002134	Abnormal basal ganglia morphology	87178	PNPT1	ORPHA:319514
HP:0002134	Abnormal basal ganglia morphology	7084	TK2	OMIM:609560
HP:0002134	Abnormal basal ganglia morphology	170825	GSX2	OMIM:618646
HP:0002134	Abnormal basal ganglia morphology	8050	PDHX	ORPHA:255182
HP:0002134	Abnormal basal ganglia morphology	81570	CLPB	ORPHA:445038
HP:0002134	Abnormal basal ganglia morphology	11128	POLR3A	ORPHA:447896
HP:0002134	Abnormal basal ganglia morphology	79848	CSPP1	ORPHA:397715
HP:0002134	Abnormal basal ganglia morphology	9786	KIAA0586	ORPHA:397715
HP:0002134	Abnormal basal ganglia morphology	2232	FDXR	ORPHA:543470
HP:0002134	Abnormal basal ganglia morphology	549	AUH	ORPHA:67046
HP:0002134	Abnormal basal ganglia morphology	8803	SUCLA2	OMIM:612073
HP:0002134	Abnormal basal ganglia morphology	9131	AIFM1	OMIM:300816
HP:0002134	Abnormal basal ganglia morphology	3028	HSD17B10	ORPHA:391428
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:214150
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:133540
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	ORPHA:90324
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:278800
HP:0002134	Abnormal basal ganglia morphology	4558	MT-TF	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4572	MT-TQ	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4512	MT-CO1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4513	MT-CO2	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4514	MT-CO3	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4574	MT-TS1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4575	MT-TS2	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4564	MT-TH	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	113612	CYP2U1	OMIM:615030
HP:0002134	Abnormal basal ganglia morphology	58494	JAM2	OMIM:618824
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	ORPHA:90324
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	OMIM:216400
HP:0002134	Abnormal basal ganglia morphology	9636	ISG15	OMIM:616126
HP:0002134	Abnormal basal ganglia morphology	2072	ERCC4	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	2767	GNA11	OMIM:615361
HP:0002134	Abnormal basal ganglia morphology	5155	PDGFB	OMIM:615483
HP:0002134	Abnormal basal ganglia morphology	5155	PDGFB	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	9213	XPR1	OMIM:616413
HP:0002134	Abnormal basal ganglia morphology	2625	GATA3	OMIM:146255
HP:0002134	Abnormal basal ganglia morphology	5159	PDGFRB	OMIM:615007
HP:0002134	Abnormal basal ganglia morphology	5159	PDGFRB	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	57462	MYORG	OMIM:618317
HP:0002134	Abnormal basal ganglia morphology	760	CA2	OMIM:259730
HP:0002134	Abnormal basal ganglia morphology	760	CA2	ORPHA:2785
HP:0002134	Abnormal basal ganglia morphology	10059	DNM1L	ORPHA:98673
HP:0002134	Abnormal basal ganglia morphology	4976	OPA1	ORPHA:98673
HP:0002134	Abnormal basal ganglia morphology	90	ACVR1	OMIM:135100
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	OMIM:612462
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	ORPHA:79443
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	ORPHA:79444
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	OMIM:103580
HP:0002134	Abnormal basal ganglia morphology	727676	SNORD118	ORPHA:542310
HP:0002134	Abnormal basal ganglia morphology	91137	SLC25A46	OMIM:616505
HP:0002134	Abnormal basal ganglia morphology	6575	SLC20A2	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	63901	FAM111A	OMIM:127000
HP:0002134	Abnormal basal ganglia morphology	63901	FAM111A	ORPHA:93325
HP:0002134	Abnormal basal ganglia morphology	116442	RAB39B	OMIM:311510
HP:0002134	Abnormal basal ganglia morphology	56984	PSMG2	OMIM:619183
HP:0002134	Abnormal basal ganglia morphology	846	CASR	OMIM:601198
HP:0002134	Abnormal basal ganglia morphology	23258	DENND5A	OMIM:617281
HP:0002134	Abnormal basal ganglia morphology	23404	EXOSC2	OMIM:617763
HP:0002134	Abnormal basal ganglia morphology	2071	ERCC3	OMIM:610651
HP:0002134	Abnormal basal ganglia morphology	113235	SLC46A1	OMIM:229050
HP:0002134	Abnormal basal ganglia morphology	5696	PSMB8	OMIM:256040
HP:0002134	Abnormal basal ganglia morphology	2697	GJA1	OMIM:164200
HP:0002134	Abnormal basal ganglia morphology	8905	AP1S2	OMIM:304340
HP:0002134	Abnormal basal ganglia morphology	1641	DCX	ORPHA:2148
HP:0002134	Abnormal basal ganglia morphology	80347	COASY	ORPHA:397725
HP:0002134	Abnormal basal ganglia morphology	23400	ATP13A2	ORPHA:314632
HP:0002134	Abnormal basal ganglia morphology	54209	TREM2	OMIM:618193
HP:0002134	Abnormal basal ganglia morphology	1678	TIMM8A	ORPHA:52368
HP:0002134	Abnormal basal ganglia morphology	3064	HTT	ORPHA:399
HP:0002134	Abnormal basal ganglia morphology	3064	HTT	OMIM:617435
HP:0002134	Abnormal basal ganglia morphology	6515	SLC2A3	ORPHA:399
HP:0002134	Abnormal basal ganglia morphology	26580	BSCL2	ORPHA:363400
HP:0002134	Abnormal basal ganglia morphology	2512	FTL	ORPHA:157846
HP:0002134	Abnormal basal ganglia morphology	7305	TYROBP	OMIM:221770
HP:0002134	Abnormal basal ganglia morphology	23230	VPS13A	OMIM:200150
HP:0002134	Abnormal basal ganglia morphology	23230	VPS13A	ORPHA:2388
HP:0002134	Abnormal basal ganglia morphology	4750	NEK1	OMIM:617892
HP:0002134	Abnormal basal ganglia morphology	93986	FOXP2	ORPHA:209908
HP:0002134	Abnormal basal ganglia morphology	79133	NDUFAF5	OMIM:618238
HP:0002134	Abnormal basal ganglia morphology	4983	OPHN1	ORPHA:137831
HP:0002134	Abnormal basal ganglia morphology	57338	JPH3	ORPHA:98934
HP:0002134	Abnormal basal ganglia morphology	1593	CYP27A1	ORPHA:909
HP:0002134	Abnormal basal ganglia morphology	3785	KCNQ2	ORPHA:439218
HP:0002134	Abnormal basal ganglia morphology	5430	POLR2A	OMIM:618603
HP:0002134	Abnormal basal ganglia morphology	4594	MMUT	OMIM:251000
HP:0002134	Abnormal basal ganglia morphology	3417	IDH1	ORPHA:99646
HP:0002134	Abnormal basal ganglia morphology	11152	WDR45	OMIM:300894
HP:0002134	Abnormal basal ganglia morphology	27072	VPS41	OMIM:619389
HP:0002134	Abnormal basal ganglia morphology	83636	C19orf12	OMIM:614298
HP:0002134	Abnormal basal ganglia morphology	80025	PANK2	ORPHA:216866
HP:0002134	Abnormal basal ganglia morphology	80025	PANK2	OMIM:607236
HP:0002134	Abnormal basal ganglia morphology	80025	PANK2	OMIM:234200
HP:0002134	Abnormal basal ganglia morphology	79152	FA2H	ORPHA:171629
HP:0002134	Abnormal basal ganglia morphology	318	NUDT2	OMIM:619844
HP:0002134	Abnormal basal ganglia morphology	8398	PLA2G6	ORPHA:35069
HP:0002134	Abnormal basal ganglia morphology	1737	DLAT	ORPHA:79244
HP:0002134	Abnormal basal ganglia morphology	1376	CPT2	OMIM:608836
HP:0002134	Abnormal basal ganglia morphology	85476	GFM1	OMIM:609060
HP:0002134	Abnormal basal ganglia morphology	23636	NUP62	ORPHA:225154
HP:0002134	Abnormal basal ganglia morphology	10667	FARS2	OMIM:614946
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	ORPHA:261537
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	ORPHA:261552
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	OMIM:235730
HP:0002134	Abnormal basal ganglia morphology	545	ATR	OMIM:210600
HP:0002134	Abnormal basal ganglia morphology	91869	RFT1	ORPHA:244310
HP:0002134	Abnormal basal ganglia morphology	131118	DNAJC19	ORPHA:66634
HP:0002134	Abnormal basal ganglia morphology	6389	SDHA	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	80704	SLC19A3	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	91942	NDUFAF2	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	6834	SURF1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4723	NDUFV1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	55572	FOXRED1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4729	NDUFV2	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	55967	NDUFA12	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	51204	TACO1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	51204	TACO1	OMIM:619052
HP:0002134	Abnormal basal ganglia morphology	4720	NDUFS2	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4724	NDUFS4	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4724	NDUFS4	OMIM:252010
HP:0002134	Abnormal basal ganglia morphology	4728	NDUFS8	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4722	NDUFS3	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	100131801	PET100	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	1355	COX15	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	1892	ECHS1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	123263	MTFMT	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	51079	NDUFA13	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	374291	NDUFS7	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4705	NDUFA10	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	51601	LIPT1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4719	NDUFS1	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4719	NDUFS1	OMIM:618226
HP:0002134	Abnormal basal ganglia morphology	4695	NDUFA2	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4697	NDUFA4	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	4704	NDUFA9	ORPHA:255241
HP:0002134	Abnormal basal ganglia morphology	8802	SUCLG1	OMIM:245400
HP:0002134	Abnormal basal ganglia morphology	5621	PRNP	ORPHA:282166
HP:0002134	Abnormal basal ganglia morphology	4535	MT-ND1	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4536	MT-ND2	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4537	MT-ND3	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4538	MT-ND4	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4567	MT-TL1	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4578	MT-TW	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4577	MT-TV	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4508	MT-ATP6	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4540	MT-ND5	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4541	MT-ND6	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4566	MT-TK	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	57107	PDSS2	ORPHA:255249
HP:0002134	Abnormal basal ganglia morphology	57107	PDSS2	OMIM:614652
HP:0002134	Abnormal basal ganglia morphology	27235	COQ2	ORPHA:255249
HP:0002134	Abnormal basal ganglia morphology	85365	ALG2	OMIM:607906
HP:0002134	Abnormal basal ganglia morphology	80208	SPG11	ORPHA:2822
HP:0002134	Abnormal basal ganglia morphology	2670	GFAP	ORPHA:363717
HP:0002134	Abnormal basal ganglia morphology	23474	ETHE1	OMIM:602473
HP:0002134	Abnormal basal ganglia morphology	10128	LRPPRC	ORPHA:70472
HP:0002134	Abnormal basal ganglia morphology	1356	CP	ORPHA:48818
HP:0002134	Abnormal basal ganglia morphology	54820	NDE1	ORPHA:2177
HP:0002134	Abnormal basal ganglia morphology	120892	LRRK2	OMIM:607060
HP:0002134	Abnormal basal ganglia morphology	5071	PRKN	OMIM:600116
HP:0002134	Abnormal basal ganglia morphology	2747	GLUD2	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	126	ADH1C	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	2629	GBA1	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	6908	TBP	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	4576	MT-TT	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	9627	SNCAIP	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	6315	ATXN8OS	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	25793	FBXO7	ORPHA:171695
HP:0002134	Abnormal basal ganglia morphology	6622	SNCA	ORPHA:171695
HP:0002134	Abnormal basal ganglia morphology	137682	NDUFAF6	OMIM:618239
HP:0002134	Abnormal basal ganglia morphology	9361	LONP1	ORPHA:79243
HP:0002134	Abnormal basal ganglia morphology	5160	PDHA1	ORPHA:79243
HP:0002134	Abnormal basal ganglia morphology	6905	TBCE	ORPHA:496756
HP:0002134	Abnormal basal ganglia morphology	54187	NANS	OMIM:610442
HP:0002134	Abnormal basal ganglia morphology	93627	TBCK	OMIM:616900
HP:0002134	Abnormal basal ganglia morphology	26275	HIBCH	ORPHA:88639
HP:0002134	Abnormal basal ganglia morphology	1528	CYB5A	ORPHA:621
HP:0002134	Abnormal basal ganglia morphology	1727	CYB5R3	ORPHA:621
HP:0002134	Abnormal basal ganglia morphology	8506	CNTNAP1	OMIM:616286
HP:0002134	Abnormal basal ganglia morphology	2737	GLI3	ORPHA:672
HP:0002134	Abnormal basal ganglia morphology	10367	MICU1	ORPHA:401768
HP:0002134	Abnormal basal ganglia morphology	55532	SLC30A10	ORPHA:309854
HP:0002134	Abnormal basal ganglia morphology	443	ASPA	ORPHA:314918
HP:0002134	Abnormal basal ganglia morphology	56947	MFF	ORPHA:485421
HP:0002134	Abnormal basal ganglia morphology	133686	NADK2	ORPHA:431361
HP:0002134	Abnormal basal ganglia morphology	22868	FASTKD2	OMIM:618855
HP:0002134	Abnormal basal ganglia morphology	84705	GTPBP3	ORPHA:444013
HP:0002134	Abnormal basal ganglia morphology	56997	COQ8A	ORPHA:139485
HP:0002134	Abnormal basal ganglia morphology	55823	VPS11	OMIM:619637
HP:0002134	Abnormal basal ganglia morphology	2720	GLB1	ORPHA:79255
HP:0002134	Abnormal basal ganglia morphology	5654	HTRA1	OMIM:616779
HP:0002134	Abnormal basal ganglia morphology	7846	TUBA1A	ORPHA:171680
HP:0002134	Abnormal basal ganglia morphology	347733	TUBB2B	ORPHA:300573
HP:0002134	Abnormal basal ganglia morphology	203068	TUBB	OMIM:615771
HP:0002134	Abnormal basal ganglia morphology	10381	TUBB3	OMIM:600638
HP:0002134	Abnormal basal ganglia morphology	10846	PDE10A	ORPHA:494541
HP:0002134	Abnormal basal ganglia morphology	51102	MECR	ORPHA:508093
HP:0002134	Abnormal basal ganglia morphology	2639	GCDH	ORPHA:25
HP:0002134	Abnormal basal ganglia morphology	5903	RANBP2	ORPHA:88619
HP:0002134	Abnormal basal ganglia morphology	23446	SLC44A1	OMIM:618868
HP:0002134	Abnormal basal ganglia morphology	54676	GTPBP2	OMIM:617988
HP:0002134	Abnormal basal ganglia morphology	9757	KMT2B	ORPHA:589618
HP:0002134	Abnormal basal ganglia morphology	64601	VPS16	OMIM:619291
HP:0002134	Abnormal basal ganglia morphology	4929	NR4A2	OMIM:619911
HP:0002134	Abnormal basal ganglia morphology	8622	PDE8B	OMIM:609161
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276238
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276244
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276241
HP:0002134	Abnormal basal ganglia morphology	10535	RNASEH2A	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	84153	RNASEH2C	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	25939	SAMHD1	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	79621	RNASEH2B	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	103	ADAR	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	11277	TREX1	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	100147744	RNU7-1	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	134353	LSM11	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	64135	IFIH1	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	2643	GCH1	ORPHA:98808
HP:0002134	Abnormal basal ganglia morphology	3615	IMPDH2	ORPHA:98808
HP:0002134	Abnormal basal ganglia morphology	6311	ATXN2	ORPHA:98756
HP:0002134	Abnormal basal ganglia morphology	29960	MRM2	OMIM:618567
HP:0002134	Abnormal basal ganglia morphology	5610	EIF2AK2	OMIM:618877
HP:0002134	Abnormal basal ganglia morphology	6857	SYT1	ORPHA:522077
HP:0002134	Abnormal basal ganglia morphology	9997	SCO2	OMIM:604377
HP:0002134	Abnormal basal ganglia morphology	9997	SCO2	ORPHA:70474
HP:0002134	Abnormal basal ganglia morphology	4137	MAPT	OMIM:601104
HP:0002134	Abnormal basal ganglia morphology	7443	VRK1	OMIM:607596
HP:0002134	Abnormal basal ganglia morphology	25915	NDUFAF3	ORPHA:70474
HP:0002134	Abnormal basal ganglia morphology	4714	NDUFB8	ORPHA:70474
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:214150
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:133540
HP:0002135	Basal ganglia calcification	2074	ERCC6	ORPHA:90324
HP:0002135	Basal ganglia calcification	2074	ERCC6	ORPHA:90321
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:278800
HP:0002135	Basal ganglia calcification	4558	MT-TF	ORPHA:550
HP:0002135	Basal ganglia calcification	4572	MT-TQ	ORPHA:550
HP:0002135	Basal ganglia calcification	4512	MT-CO1	ORPHA:550
HP:0002135	Basal ganglia calcification	4513	MT-CO2	ORPHA:550
HP:0002135	Basal ganglia calcification	4514	MT-CO3	ORPHA:550
HP:0002135	Basal ganglia calcification	4578	MT-TW	ORPHA:550
HP:0002135	Basal ganglia calcification	4540	MT-ND5	ORPHA:550
HP:0002135	Basal ganglia calcification	4541	MT-ND6	ORPHA:550
HP:0002135	Basal ganglia calcification	4535	MT-ND1	ORPHA:550
HP:0002135	Basal ganglia calcification	4538	MT-ND4	ORPHA:550
HP:0002135	Basal ganglia calcification	4567	MT-TL1	ORPHA:550
HP:0002135	Basal ganglia calcification	4574	MT-TS1	ORPHA:550
HP:0002135	Basal ganglia calcification	4575	MT-TS2	ORPHA:550
HP:0002135	Basal ganglia calcification	4564	MT-TH	ORPHA:550
HP:0002135	Basal ganglia calcification	113612	CYP2U1	OMIM:615030
HP:0002135	Basal ganglia calcification	79621	RNASEH2B	OMIM:610181
HP:0002135	Basal ganglia calcification	58494	JAM2	OMIM:618824
HP:0002135	Basal ganglia calcification	1161	ERCC8	ORPHA:90324
HP:0002135	Basal ganglia calcification	1161	ERCC8	ORPHA:90321
HP:0002135	Basal ganglia calcification	1161	ERCC8	OMIM:216400
HP:0002135	Basal ganglia calcification	9636	ISG15	OMIM:616126
HP:0002135	Basal ganglia calcification	2072	ERCC4	ORPHA:90321
HP:0002135	Basal ganglia calcification	54209	TREM2	OMIM:618193
HP:0002135	Basal ganglia calcification	100147744	RNU7-1	OMIM:619487
HP:0002135	Basal ganglia calcification	2767	GNA11	OMIM:615361
HP:0002135	Basal ganglia calcification	11277	TREX1	OMIM:225750
HP:0002135	Basal ganglia calcification	5155	PDGFB	OMIM:615483
HP:0002135	Basal ganglia calcification	5155	PDGFB	OMIM:213600
HP:0002135	Basal ganglia calcification	134353	LSM11	OMIM:619486
HP:0002135	Basal ganglia calcification	9213	XPR1	OMIM:616413
HP:0002135	Basal ganglia calcification	2625	GATA3	OMIM:146255
HP:0002135	Basal ganglia calcification	64135	IFIH1	OMIM:615846
HP:0002135	Basal ganglia calcification	5159	PDGFRB	OMIM:615007
HP:0002135	Basal ganglia calcification	5159	PDGFRB	OMIM:213600
HP:0002135	Basal ganglia calcification	57462	MYORG	OMIM:618317
HP:0002135	Basal ganglia calcification	760	CA2	OMIM:259730
HP:0002135	Basal ganglia calcification	760	CA2	ORPHA:2785
HP:0002135	Basal ganglia calcification	10059	DNM1L	ORPHA:98673
HP:0002135	Basal ganglia calcification	4976	OPA1	ORPHA:98673
HP:0002135	Basal ganglia calcification	90	ACVR1	OMIM:135100
HP:0002135	Basal ganglia calcification	2778	GNAS	OMIM:612462
HP:0002135	Basal ganglia calcification	2778	GNAS	ORPHA:79443
HP:0002135	Basal ganglia calcification	2778	GNAS	ORPHA:79444
HP:0002135	Basal ganglia calcification	2778	GNAS	OMIM:103580
HP:0002135	Basal ganglia calcification	727676	SNORD118	ORPHA:542310
HP:0002135	Basal ganglia calcification	91137	SLC25A46	OMIM:616505
HP:0002135	Basal ganglia calcification	6575	SLC20A2	OMIM:213600
HP:0002135	Basal ganglia calcification	63901	FAM111A	OMIM:127000
HP:0002135	Basal ganglia calcification	63901	FAM111A	ORPHA:93325
HP:0002135	Basal ganglia calcification	116442	RAB39B	OMIM:311510
HP:0002135	Basal ganglia calcification	56984	PSMG2	OMIM:619183
HP:0002135	Basal ganglia calcification	846	CASR	OMIM:601198
HP:0002135	Basal ganglia calcification	23258	DENND5A	OMIM:617281
HP:0002135	Basal ganglia calcification	23404	EXOSC2	OMIM:617763
HP:0002135	Basal ganglia calcification	7305	TYROBP	OMIM:221770
HP:0002135	Basal ganglia calcification	2071	ERCC3	OMIM:610651
HP:0002135	Basal ganglia calcification	113235	SLC46A1	OMIM:229050
HP:0002135	Basal ganglia calcification	25939	SAMHD1	OMIM:612952
HP:0002135	Basal ganglia calcification	5696	PSMB8	OMIM:256040
HP:0002135	Basal ganglia calcification	2697	GJA1	OMIM:164200
HP:0002135	Basal ganglia calcification	8905	AP1S2	OMIM:304340
HP:0002136	Broad-based gait	6535	SLC6A8	OMIM:300352
HP:0002136	Broad-based gait	11253	MAN1B1	ORPHA:397941
HP:0002136	Broad-based gait	26960	NBEA	OMIM:619157
HP:0002136	Broad-based gait	1859	DYRK1A	ORPHA:268261
HP:0002136	Broad-based gait	23241	PACS2	OMIM:618067
HP:0002136	Broad-based gait	124997	WDR81	OMIM:610185
HP:0002136	Broad-based gait	23314	SATB2	ORPHA:251028
HP:0002136	Broad-based gait	23314	SATB2	OMIM:612313
HP:0002136	Broad-based gait	85358	SHANK3	OMIM:606232
HP:0002136	Broad-based gait	85300	ATCAY	ORPHA:94122
HP:0002136	Broad-based gait	85300	ATCAY	OMIM:601238
HP:0002136	Broad-based gait	51412	ACTL6B	OMIM:618470
HP:0002136	Broad-based gait	10743	RAI1	ORPHA:477817
HP:0002136	Broad-based gait	80232	WDR26	ORPHA:513456
HP:0002136	Broad-based gait	80232	WDR26	OMIM:617616
HP:0002136	Broad-based gait	91942	NDUFAF2	OMIM:618233
HP:0002136	Broad-based gait	440193	CCDC88C	OMIM:616053
HP:0002136	Broad-based gait	440193	CCDC88C	ORPHA:423275
HP:0002136	Broad-based gait	56521	DNAJC12	OMIM:617384
HP:0002136	Broad-based gait	63895	PIEZO2	OMIM:617146
HP:0002136	Broad-based gait	6492	SIM1	ORPHA:171829
HP:0002136	Broad-based gait	790	CAD	OMIM:616457
HP:0002136	Broad-based gait	7532	YWHAG	OMIM:617665
HP:0002136	Broad-based gait	1654	DDX3X	ORPHA:457260
HP:0002136	Broad-based gait	1654	DDX3X	OMIM:300958
HP:0002136	Broad-based gait	10847	SRCAP	ORPHA:2044
HP:0002136	Broad-based gait	2132	EXT2	ORPHA:466926
HP:0002136	Broad-based gait	2581	GALC	ORPHA:206448
HP:0002136	Broad-based gait	57231	SNX14	ORPHA:397709
HP:0002136	Broad-based gait	4131	MAP1B	OMIM:618918
HP:0002136	Broad-based gait	4297	KMT2A	OMIM:605130
HP:0002136	Broad-based gait	84679	SLC9A7	OMIM:301024
HP:0002136	Broad-based gait	7337	UBE3A	ORPHA:98794
HP:0002136	Broad-based gait	7337	UBE3A	ORPHA:98795
HP:0002136	Broad-based gait	7337	UBE3A	OMIM:105830
HP:0002136	Broad-based gait	7337	UBE3A	ORPHA:411511
HP:0002136	Broad-based gait	7337	UBE3A	ORPHA:411515
HP:0002136	Broad-based gait	4948	OCA2	ORPHA:98794
HP:0002136	Broad-based gait	9289	ADGRG1	OMIM:606854
HP:0002136	Broad-based gait	23321	TRIM2	OMIM:615490
HP:0002136	Broad-based gait	3064	HTT	ORPHA:248111
HP:0002136	Broad-based gait	51132	RLIM	OMIM:300978
HP:0002136	Broad-based gait	63035	BCORL1	OMIM:301029
HP:0002136	Broad-based gait	9968	MED12	ORPHA:93932
HP:0002136	Broad-based gait	26007	TKFC	OMIM:618805
HP:0002136	Broad-based gait	4358	MPV17	OMIM:256810
HP:0002136	Broad-based gait	7436	VLDLR	OMIM:224050
HP:0002136	Broad-based gait	267010	RNU12	OMIM:620208
HP:0002136	Broad-based gait	267010	RNU12	ORPHA:512260
HP:0002136	Broad-based gait	9378	NRXN1	OMIM:614325
HP:0002136	Broad-based gait	1737	DLAT	ORPHA:79244
HP:0002136	Broad-based gait	4547	MTTP	ORPHA:14
HP:0002136	Broad-based gait	9839	ZEB2	ORPHA:261552
HP:0002136	Broad-based gait	9839	ZEB2	ORPHA:261537
HP:0002136	Broad-based gait	6712	SPTBN2	OMIM:600224
HP:0002136	Broad-based gait	10087	CERT1	OMIM:616351
HP:0002136	Broad-based gait	7156	TOP3A	OMIM:618098
HP:0002136	Broad-based gait	833	CARS1	OMIM:618891
HP:0002136	Broad-based gait	7067	THRA	OMIM:614450
HP:0002136	Broad-based gait	246243	RNASEH1	OMIM:616479
HP:0002136	Broad-based gait	54664	TMEM106B	OMIM:617964
HP:0002136	Broad-based gait	5813	PURA	ORPHA:438216
HP:0002136	Broad-based gait	5813	PURA	OMIM:616158
HP:0002136	Broad-based gait	2783	GNB2	OMIM:619503
HP:0002136	Broad-based gait	57531	HACE1	OMIM:616756
HP:0002136	Broad-based gait	4204	MECP2	ORPHA:3077
HP:0002136	Broad-based gait	9907	AP5Z1	OMIM:613647
HP:0002136	Broad-based gait	9907	AP5Z1	ORPHA:306511
HP:0002136	Broad-based gait	6908	TBP	OMIM:607136
HP:0002136	Broad-based gait	28982	FLVCR1	OMIM:609033
HP:0002136	Broad-based gait	6445	SGCG	ORPHA:353
HP:0002136	Broad-based gait	3752	KCND3	ORPHA:98772
HP:0002136	Broad-based gait	84065	TMEM222	OMIM:619470
HP:0002136	Broad-based gait	253738	EBF3	OMIM:617330
HP:0002136	Broad-based gait	339983	NAT8L	OMIM:614063
HP:0002136	Broad-based gait	8493	PPM1D	OMIM:617450
HP:0002136	Broad-based gait	55773	TBC1D23	OMIM:617695
HP:0002136	Broad-based gait	8558	CDK10	OMIM:617694
HP:0002136	Broad-based gait	7737	RNF113A	OMIM:300953
HP:0002136	Broad-based gait	6711	SPTBN1	OMIM:619475
HP:0002136	Broad-based gait	7415	VCP	ORPHA:435387
HP:0002136	Broad-based gait	1213	CLTC	OMIM:617854
HP:0002136	Broad-based gait	55280	CWF19L1	OMIM:616127
HP:0002136	Broad-based gait	131669	UROC1	OMIM:276880
HP:0002136	Broad-based gait	131669	UROC1	ORPHA:210128
HP:0002136	Broad-based gait	27235	COQ2	ORPHA:227510
HP:0002136	Broad-based gait	6638	SNRPN	OMIM:105830
HP:0002136	Broad-based gait	6638	SNRPN	ORPHA:411515
HP:0002136	Broad-based gait	8936	WASF1	OMIM:618707
HP:0002136	Broad-based gait	1298	COL9A2	OMIM:600204
HP:0002136	Broad-based gait	9276	COPB2	OMIM:619884
HP:0002136	Broad-based gait	122553	TRAPPC6B	OMIM:617862
HP:0002136	Broad-based gait	53335	BCL11A	OMIM:617101
HP:0002136	Broad-based gait	59336	PRDM13	OMIM:619761
HP:0002136	Broad-based gait	57688	ZSWIM6	OMIM:617865
HP:0002136	Broad-based gait	23261	CAMTA1	OMIM:614756
HP:0002136	Broad-based gait	3708	ITPR1	OMIM:117360
HP:0002136	Broad-based gait	8450	CUL4B	ORPHA:85293
HP:0002136	Broad-based gait	54676	GTPBP2	OMIM:617988
HP:0002136	Broad-based gait	57704	GBA2	ORPHA:320391
HP:0002136	Broad-based gait	93587	TRMT10A	ORPHA:391408
HP:0002136	Broad-based gait	84919	PPP1R15B	ORPHA:391408
HP:0002136	Broad-based gait	10522	DEAF1	ORPHA:468620
HP:0002136	Broad-based gait	8241	RBM10	ORPHA:2886
HP:0002136	Broad-based gait	1200	TPP1	ORPHA:284324
HP:0002136	Broad-based gait	23299	BICD2	OMIM:615290
HP:0002136	Broad-based gait	5354	PLP1	OMIM:312080
HP:0002136	Broad-based gait	54888	NSUN2	OMIM:611091
HP:0002136	Broad-based gait	2629	GBA1	ORPHA:2072
HP:0002136	Broad-based gait	7518	XRCC4	OMIM:616541
HP:0002136	Broad-based gait	9487	PIGL	OMIM:280000
HP:0002136	Broad-based gait	6611	SMS	OMIM:309583
HP:0002136	Broad-based gait	1107	CHD3	OMIM:618205
HP:0002136	Broad-based gait	2961	GTF2E2	OMIM:616943
HP:0002136	Broad-based gait	5428	POLG	OMIM:607459
HP:0002136	Broad-based gait	56652	TWNK	OMIM:607459
HP:0002136	Broad-based gait	84706	GPT2	ORPHA:477673
HP:0002136	Broad-based gait	57716	PRX	OMIM:614895
HP:0002136	Broad-based gait	57716	PRX	OMIM:145900
HP:0002136	Broad-based gait	96459	FNIP1	OMIM:619705
HP:0002136	Broad-based gait	9230	RAB11B	OMIM:617807
HP:0002136	Broad-based gait	57194	ATP10A	ORPHA:411515
HP:0002136	Broad-based gait	6443	SGCB	ORPHA:119
HP:0002136	Broad-based gait	4359	MPZ	OMIM:145900
HP:0002136	Broad-based gait	5376	PMP22	OMIM:145900
HP:0002136	Broad-based gait	1959	EGR2	OMIM:145900
HP:0002136	Broad-based gait	5830	PEX5	OMIM:616716
HP:0002136	Broad-based gait	7080	NKX2-1	OMIM:610978
HP:0002136	Broad-based gait	59341	TRPV4	OMIM:181405
HP:0001342	Cerebral hemorrhage	1471	CST3	OMIM:105150
HP:0001342	Cerebral hemorrhage	1471	CST3	ORPHA:100008
HP:0001342	Cerebral hemorrhage	94	ACVRL1	OMIM:600376
HP:0001342	Cerebral hemorrhage	94	ACVRL1	ORPHA:774
HP:0001342	Cerebral hemorrhage	3717	JAK2	OMIM:133100
HP:0001342	Cerebral hemorrhage	3717	JAK2	OMIM:263300
HP:0001342	Cerebral hemorrhage	10019	SH2B3	OMIM:133100
HP:0001342	Cerebral hemorrhage	2057	EPOR	OMIM:133100
HP:0001342	Cerebral hemorrhage	7428	VHL	OMIM:263400
HP:0001342	Cerebral hemorrhage	7428	VHL	OMIM:171300
HP:0001342	Cerebral hemorrhage	7428	VHL	ORPHA:29072
HP:0001342	Cerebral hemorrhage	7428	VHL	ORPHA:276621
HP:0001342	Cerebral hemorrhage	2132	EXT2	OMIM:616682
HP:0001342	Cerebral hemorrhage	2677	GGCX	OMIM:277450
HP:0001342	Cerebral hemorrhage	55654	TMEM127	OMIM:171300
HP:0001342	Cerebral hemorrhage	55654	TMEM127	ORPHA:29072
HP:0001342	Cerebral hemorrhage	5979	RET	OMIM:171300
HP:0001342	Cerebral hemorrhage	5979	RET	ORPHA:29072
HP:0001342	Cerebral hemorrhage	5979	RET	ORPHA:276621
HP:0001342	Cerebral hemorrhage	6390	SDHB	OMIM:171300
HP:0001342	Cerebral hemorrhage	6390	SDHB	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6390	SDHB	ORPHA:276621
HP:0001342	Cerebral hemorrhage	6392	SDHD	OMIM:171300
HP:0001342	Cerebral hemorrhage	6392	SDHD	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6392	SDHD	ORPHA:276621
HP:0001342	Cerebral hemorrhage	4149	MAX	OMIM:171300
HP:0001342	Cerebral hemorrhage	4149	MAX	ORPHA:29072
HP:0001342	Cerebral hemorrhage	1743	DLST	ORPHA:29072
HP:0001342	Cerebral hemorrhage	4191	MDH2	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6389	SDHA	ORPHA:29072
HP:0001342	Cerebral hemorrhage	23095	KIF1B	ORPHA:29072
HP:0001342	Cerebral hemorrhage	2271	FH	ORPHA:29072
HP:0001342	Cerebral hemorrhage	8402	SLC25A11	ORPHA:29072
HP:0001342	Cerebral hemorrhage	54949	SDHAF2	ORPHA:29072
HP:0001342	Cerebral hemorrhage	4763	NF1	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6391	SDHC	ORPHA:29072
HP:0001342	Cerebral hemorrhage	8314	BAP1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	4771	NF2	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6598	SMARCB1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	5155	PDGFB	ORPHA:2495
HP:0001342	Cerebral hemorrhage	84231	TRAF7	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6608	SMO	ORPHA:2495
HP:0001342	Cerebral hemorrhage	207	AKT1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	5290	PIK3CA	ORPHA:2495
HP:0001342	Cerebral hemorrhage	7015	TERT	ORPHA:2495
HP:0001342	Cerebral hemorrhage	51684	SUFU	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6605	SMARCE1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	8517	IKBKG	OMIM:301081
HP:0001342	Cerebral hemorrhage	1282	COL4A1	OMIM:175780
HP:0001342	Cerebral hemorrhage	2335	FN1	ORPHA:84090
HP:0001342	Cerebral hemorrhage	11235	PDCD10	OMIM:603285
HP:0001342	Cerebral hemorrhage	11235	PDCD10	ORPHA:221061
HP:0001342	Cerebral hemorrhage	83605	CCM2	OMIM:603284
HP:0001342	Cerebral hemorrhage	83605	CCM2	ORPHA:221061
HP:0001342	Cerebral hemorrhage	2243	FGA	ORPHA:98880
HP:0001342	Cerebral hemorrhage	2244	FGB	ORPHA:98880
HP:0001342	Cerebral hemorrhage	2266	FGG	ORPHA:98880
HP:0001342	Cerebral hemorrhage	889	KRIT1	ORPHA:221061
HP:0001342	Cerebral hemorrhage	368	ABCC6	OMIM:177850
HP:0001342	Cerebral hemorrhage	2316	FLNA	OMIM:300049
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324713
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324703
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324708
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:100006
HP:0001342	Cerebral hemorrhage	3075	CFH	ORPHA:244242
HP:0001342	Cerebral hemorrhage	3426	CFI	ORPHA:244242
HP:0001342	Cerebral hemorrhage	4179	CD46	ORPHA:244242
HP:0001342	Cerebral hemorrhage	101101692	HELLPAR	ORPHA:244242
HP:0001342	Cerebral hemorrhage	5627	PROS1	OMIM:614514
HP:0001342	Cerebral hemorrhage	2165	F13B	ORPHA:331
HP:0001342	Cerebral hemorrhage	2162	F13A1	ORPHA:331
HP:0001342	Cerebral hemorrhage	4854	NOTCH3	ORPHA:136
HP:0001342	Cerebral hemorrhage	2658	GDF2	ORPHA:774
HP:0001342	Cerebral hemorrhage	4089	SMAD4	ORPHA:774
HP:0001342	Cerebral hemorrhage	2022	ENG	ORPHA:774
HP:0001342	Cerebral hemorrhage	2022	ENG	OMIM:187300
HP:0001342	Cerebral hemorrhage	51816	ADA2	OMIM:182410
HP:0001342	Cerebral hemorrhage	442721	LMOD2	OMIM:619897
HP:0001342	Cerebral hemorrhage	11274	USP18	OMIM:617397
HP:0001342	Cerebral hemorrhage	727676	SNORD118	ORPHA:542310
HP:0001342	Cerebral hemorrhage	6773	STAT2	OMIM:618886
HP:0001342	Cerebral hemorrhage	79184	BRCC3	ORPHA:280679
HP:0001342	Cerebral hemorrhage	1788	DNMT3A	ORPHA:276621
HP:0001342	Cerebral hemorrhage	2034	EPAS1	ORPHA:276621
HP:0001342	Cerebral hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0001342	Cerebral hemorrhage	1376	CPT2	OMIM:608836
HP:0001342	Cerebral hemorrhage	54820	NDE1	ORPHA:2177
HP:0002138	Subarachnoid hemorrhage	94	ACVRL1	OMIM:600376
HP:0002138	Subarachnoid hemorrhage	94	ACVRL1	ORPHA:774
HP:0002138	Subarachnoid hemorrhage	2658	GDF2	ORPHA:774
HP:0002138	Subarachnoid hemorrhage	4089	SMAD4	ORPHA:774
HP:0002138	Subarachnoid hemorrhage	4089	SMAD4	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	2022	ENG	ORPHA:774
HP:0002138	Subarachnoid hemorrhage	2022	ENG	OMIM:187300
HP:0002138	Subarachnoid hemorrhage	2022	ENG	ORPHA:231160
HP:0002138	Subarachnoid hemorrhage	2548	GAA	OMIM:232300
HP:0002138	Subarachnoid hemorrhage	4088	SMAD3	OMIM:613795
HP:0002138	Subarachnoid hemorrhage	4088	SMAD3	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	5921	RASA1	ORPHA:90307
HP:0002138	Subarachnoid hemorrhage	2159	F10	ORPHA:328
HP:0002138	Subarachnoid hemorrhage	351	APP	OMIM:605714
HP:0002138	Subarachnoid hemorrhage	81704	DOCK8	OMIM:243700
HP:0002138	Subarachnoid hemorrhage	6786	STIM1	OMIM:185070
HP:0002138	Subarachnoid hemorrhage	55901	THSD1	OMIM:618734
HP:0002138	Subarachnoid hemorrhage	55901	THSD1	ORPHA:231160
HP:0002138	Subarachnoid hemorrhage	4629	MYH11	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	7046	TGFBR1	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	7048	TGFBR2	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	4015	LOX	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	4087	SMAD2	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	7043	TGFB3	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	7042	TGFB2	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	2200	FBN1	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	59	ACTA2	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	5592	PRKG1	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	2301	FOXE3	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	4144	MAT2A	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	23493	HEY2	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	8076	MFAP5	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	4638	MYLK	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	2006	ELN	ORPHA:91387
HP:0002138	Subarachnoid hemorrhage	2811	GP1BA	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	2812	GP1BB	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	3674	ITGA2B	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	3673	ITGA2	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	135228	CD109	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	3690	ITGB3	ORPHA:853
HP:0002138	Subarachnoid hemorrhage	7049	TGFBR3	ORPHA:231160
HP:0002138	Subarachnoid hemorrhage	1281	COL3A1	ORPHA:231160
HP:0002138	Subarachnoid hemorrhage	83854	ANGPTL6	ORPHA:231160
HP:0002139	Arrhinencephaly	9896	FIG4	OMIM:216340
HP:0002139	Arrhinencephaly	9896	FIG4	ORPHA:3472
HP:0002139	Arrhinencephaly	2737	GLI3	ORPHA:672
HP:0002139	Arrhinencephaly	55697	VAC14	ORPHA:3472
HP:0002139	Arrhinencephaly	65250	CPLANE1	OMIM:277170
HP:0002139	Arrhinencephaly	9928	KIF14	OMIM:616258
HP:0002139	Arrhinencephaly	9928	KIF14	OMIM:617914
HP:0002139	Arrhinencephaly	219844	HYLS1	ORPHA:2189
HP:0002139	Arrhinencephaly	219844	HYLS1	OMIM:236680
HP:0002139	Arrhinencephaly	374654	KIF7	ORPHA:2189
HP:0002139	Arrhinencephaly	55636	CHD7	OMIM:214800
HP:0002139	Arrhinencephaly	26123	TCTN3	OMIM:614815
HP:0002139	Arrhinencephaly	10535	RNASEH2A	ORPHA:51
HP:0002139	Arrhinencephaly	84153	RNASEH2C	ORPHA:51
HP:0002139	Arrhinencephaly	25939	SAMHD1	ORPHA:51
HP:0002139	Arrhinencephaly	79621	RNASEH2B	ORPHA:51
HP:0002139	Arrhinencephaly	103	ADAR	ORPHA:51
HP:0002139	Arrhinencephaly	11277	TREX1	ORPHA:51
HP:0002139	Arrhinencephaly	100147744	RNU7-1	ORPHA:51
HP:0002139	Arrhinencephaly	134353	LSM11	ORPHA:51
HP:0002139	Arrhinencephaly	64135	IFIH1	ORPHA:51
HP:0002139	Arrhinencephaly	1312	COMT	ORPHA:567
HP:0002139	Arrhinencephaly	221037	JMJD1C	ORPHA:567
HP:0002139	Arrhinencephaly	2812	GP1BB	ORPHA:567
HP:0002139	Arrhinencephaly	6239	RREB1	ORPHA:567
HP:0002139	Arrhinencephaly	6899	TBX1	ORPHA:567
HP:0002139	Arrhinencephaly	7290	HIRA	ORPHA:567
HP:0002139	Arrhinencephaly	9632	SEC24C	ORPHA:567
HP:0002139	Arrhinencephaly	7353	UFD1	ORPHA:567
HP:0002139	Arrhinencephaly	421	ARVCF	ORPHA:567
HP:0002139	Arrhinencephaly	81839	VANGL1	ORPHA:3027
HP:0002139	Arrhinencephaly	80199	FUZ	ORPHA:3027
HP:0002139	Arrhinencephaly	2187	FANCB	ORPHA:3412
HP:0002139	Arrhinencephaly	526	ATP6V1B2	ORPHA:79500
HP:0002139	Arrhinencephaly	57465	TBC1D24	ORPHA:79500
HP:0002139	Arrhinencephaly	10262	SF3B4	ORPHA:1788
HP:0002139	Arrhinencephaly	64093	SMOC1	ORPHA:1106
HP:0012358	Abnormal protein O-linked glycosylation	25839	COG4	ORPHA:263501
HP:0012358	Abnormal protein O-linked glycosylation	2542	SLC37A4	OMIM:619525
HP:0012358	Abnormal protein O-linked glycosylation	147007	TMEM199	OMIM:616829
HP:0012358	Abnormal protein O-linked glycosylation	2590	GALNT2	OMIM:618885
HP:0012358	Abnormal protein O-linked glycosylation	537	ATP6AP1	OMIM:300972
HP:0012358	Abnormal protein O-linked glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012358	Abnormal protein O-linked glycosylation	54344	DPM3	ORPHA:263494
HP:0012358	Abnormal protein O-linked glycosylation	8818	DPM2	OMIM:615042
HP:0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	51083	GAL	OMIM:616461
HP:0032786	Migrating focal seizure	2558	GABRA5	OMIM:618559
HP:0002140	Ischemic stroke	94	ACVRL1	OMIM:600376
HP:0002140	Ischemic stroke	4854	NOTCH3	ORPHA:136
HP:0002140	Ischemic stroke	51816	ADA2	OMIM:182410
HP:0002140	Ischemic stroke	2022	ENG	OMIM:187300
HP:0002140	Ischemic stroke	81031	SLC2A10	OMIM:208050
HP:0002140	Ischemic stroke	6651	SON	ORPHA:500150
HP:0002140	Ischemic stroke	2982	GUCY1A1	OMIM:615750
HP:0002140	Ischemic stroke	3717	JAK2	OMIM:614521
HP:0002140	Ischemic stroke	50485	SMARCAL1	ORPHA:1830
HP:0002140	Ischemic stroke	6331	SCN5A	ORPHA:1344
HP:0002140	Ischemic stroke	4878	NPPA	ORPHA:1344
HP:0002140	Ischemic stroke	2783	GNB2	OMIM:619503
HP:0002140	Ischemic stroke	79184	BRCC3	ORPHA:280679
HP:0002140	Ischemic stroke	1282	COL4A1	OMIM:175780
HP:0002140	Ischemic stroke	4629	MYH11	ORPHA:91387
HP:0002140	Ischemic stroke	7046	TGFBR1	ORPHA:91387
HP:0002140	Ischemic stroke	7048	TGFBR2	ORPHA:91387
HP:0002140	Ischemic stroke	4015	LOX	ORPHA:91387
HP:0002140	Ischemic stroke	4087	SMAD2	ORPHA:91387
HP:0002140	Ischemic stroke	7043	TGFB3	ORPHA:91387
HP:0002140	Ischemic stroke	4088	SMAD3	ORPHA:91387
HP:0002140	Ischemic stroke	7042	TGFB2	ORPHA:91387
HP:0002140	Ischemic stroke	4089	SMAD4	ORPHA:91387
HP:0002140	Ischemic stroke	2200	FBN1	ORPHA:91387
HP:0002140	Ischemic stroke	59	ACTA2	ORPHA:91387
HP:0002140	Ischemic stroke	5592	PRKG1	ORPHA:91387
HP:0002140	Ischemic stroke	2301	FOXE3	ORPHA:91387
HP:0002140	Ischemic stroke	4144	MAT2A	ORPHA:91387
HP:0002140	Ischemic stroke	23493	HEY2	ORPHA:91387
HP:0002140	Ischemic stroke	8076	MFAP5	ORPHA:91387
HP:0002140	Ischemic stroke	4638	MYLK	ORPHA:91387
HP:0002140	Ischemic stroke	2006	ELN	ORPHA:91387
HP:0002140	Ischemic stroke	5654	HTRA1	OMIM:600142
HP:0002140	Ischemic stroke	5654	HTRA1	OMIM:616779
HP:0002140	Ischemic stroke	79709	COLGALT1	OMIM:618360
HP:0002140	Ischemic stroke	4668	NAGA	OMIM:609242
HP:0002140	Ischemic stroke	5286	PIK3C2A	OMIM:618440
HP:0002141	Gait imbalance	2592	GALT	ORPHA:79239
HP:0002141	Gait imbalance	7337	UBE3A	ORPHA:98794
HP:0002141	Gait imbalance	7337	UBE3A	ORPHA:98795
HP:0002141	Gait imbalance	7337	UBE3A	ORPHA:411511
HP:0002141	Gait imbalance	4948	OCA2	ORPHA:98794
HP:0002141	Gait imbalance	3064	HTT	ORPHA:399
HP:0002141	Gait imbalance	6515	SLC2A3	ORPHA:399
HP:0002141	Gait imbalance	146057	TTBK2	OMIM:604432
HP:0002141	Gait imbalance	146057	TTBK2	ORPHA:98767
HP:0002141	Gait imbalance	4694	NDUFA1	OMIM:301020
HP:0002141	Gait imbalance	4137	MAPT	OMIM:601104
HP:0002141	Gait imbalance	4137	MAPT	ORPHA:240071
HP:0002141	Gait imbalance	4137	MAPT	ORPHA:240094
HP:0002141	Gait imbalance	23013	SPEN	OMIM:619312
HP:0002141	Gait imbalance	513	ATP5F1D	OMIM:618120
HP:0002141	Gait imbalance	7415	VCP	ORPHA:435387
HP:0002141	Gait imbalance	50484	RRM2B	ORPHA:329336
HP:0002141	Gait imbalance	246243	RNASEH1	ORPHA:329336
HP:0002141	Gait imbalance	23533	PIK3R5	ORPHA:64753
HP:0002141	Gait imbalance	23064	SETX	ORPHA:64753
HP:0002141	Gait imbalance	7994	KAT6A	OMIM:616268
HP:0002141	Gait imbalance	2318	FLNC	ORPHA:63273
HP:0002141	Gait imbalance	1108	CHD4	OMIM:617159
HP:0002141	Gait imbalance	9894	TELO2	ORPHA:488642
HP:0002141	Gait imbalance	54834	GDAP2	OMIM:618369
HP:0002141	Gait imbalance	6804	STX1A	ORPHA:904
HP:0002141	Gait imbalance	7461	CLIP2	ORPHA:904
HP:0002141	Gait imbalance	84277	DNAJC30	ORPHA:904
HP:0002141	Gait imbalance	8468	FKBP6	ORPHA:904
HP:0002141	Gait imbalance	5982	RFC2	ORPHA:904
HP:0002141	Gait imbalance	2969	GTF2I	ORPHA:904
HP:0002141	Gait imbalance	3984	LIMK1	ORPHA:904
HP:0002141	Gait imbalance	9569	GTF2IRD1	ORPHA:904
HP:0002141	Gait imbalance	155382	VPS37D	ORPHA:904
HP:0002141	Gait imbalance	155368	METTL27	ORPHA:904
HP:0002141	Gait imbalance	114049	BUD23	ORPHA:904
HP:0002141	Gait imbalance	7458	EIF4H	ORPHA:904
HP:0002141	Gait imbalance	84163	GTF2IRD2	ORPHA:904
HP:0002141	Gait imbalance	9275	BCL7B	ORPHA:904
HP:0002141	Gait imbalance	26608	TBL2	ORPHA:904
HP:0002141	Gait imbalance	653361	NCF1	ORPHA:904
HP:0002141	Gait imbalance	135886	TMEM270	ORPHA:904
HP:0002141	Gait imbalance	51085	MLXIPL	ORPHA:904
HP:0002141	Gait imbalance	51085	MLXIPL	OMIM:194050
HP:0002141	Gait imbalance	9031	BAZ1B	ORPHA:904
HP:0002141	Gait imbalance	2006	ELN	ORPHA:904
HP:0002141	Gait imbalance	2006	ELN	OMIM:194050
HP:0002141	Gait imbalance	84100	ARL6	OMIM:209900
HP:0002141	Gait imbalance	79140	CCDC28B	OMIM:209900
HP:0002141	Gait imbalance	582	BBS1	OMIM:209900
HP:0002141	Gait imbalance	57679	ALS2	ORPHA:247604
HP:0002141	Gait imbalance	11160	ERLIN2	ORPHA:247604
HP:0002141	Gait imbalance	83480	PUS3	ORPHA:488627
HP:0002141	Gait imbalance	9289	ADGRG1	ORPHA:101070
HP:0002141	Gait imbalance	5728	PTEN	ORPHA:101070
HP:0002141	Gait imbalance	3098	HK1	ORPHA:99953
HP:0002141	Gait imbalance	25814	ATXN10	ORPHA:98761
HP:0002141	Gait imbalance	54828	BCAS3	OMIM:619641
HP:0002141	Gait imbalance	6872	TAF1	OMIM:300966
HP:0002141	Gait imbalance	54872	PIGG	ORPHA:488635
HP:0002141	Gait imbalance	5376	PMP22	ORPHA:90658
HP:0002141	Gait imbalance	5376	PMP22	ORPHA:101081
HP:0002141	Gait imbalance	54832	VPS13C	ORPHA:2828
HP:0002141	Gait imbalance	11315	PARK7	ORPHA:2828
HP:0002141	Gait imbalance	7345	UCHL1	ORPHA:2828
HP:0002141	Gait imbalance	27429	HTRA2	ORPHA:2828
HP:0002141	Gait imbalance	120892	LRRK2	ORPHA:2828
HP:0002141	Gait imbalance	9829	DNAJC6	ORPHA:2828
HP:0002141	Gait imbalance	6622	SNCA	ORPHA:2828
HP:0002141	Gait imbalance	5420	PODXL	ORPHA:2828
HP:0002141	Gait imbalance	65018	PINK1	ORPHA:2828
HP:0002141	Gait imbalance	8867	SYNJ1	ORPHA:2828
HP:0002141	Gait imbalance	5071	PRKN	ORPHA:2828
HP:0002141	Gait imbalance	113278	SLC52A3	OMIM:211530
HP:0002141	Gait imbalance	2395	FXN	ORPHA:95
HP:0002141	Gait imbalance	10522	DEAF1	ORPHA:468620
HP:0002141	Gait imbalance	10558	SPTLC1	ORPHA:36386
HP:0002141	Gait imbalance	25923	ATL3	ORPHA:36386
HP:0002141	Gait imbalance	9517	SPTLC2	ORPHA:36386
HP:0002141	Gait imbalance	51062	ATL1	ORPHA:36386
HP:0002141	Gait imbalance	6310	ATXN1	ORPHA:98755
HP:0007240	Progressive gait ataxia	1200	TPP1	ORPHA:284324
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309271
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309256
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309263
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309271
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309256
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309263
HP:0007240	Progressive gait ataxia	55129	ANO10	ORPHA:284289
HP:0007240	Progressive gait ataxia	1938	EEF2	ORPHA:101112
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276244
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276241
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276238
HP:0007240	Progressive gait ataxia	6638	SNRPN	OMIM:105830
HP:0007240	Progressive gait ataxia	7337	UBE3A	OMIM:105830
HP:0007240	Progressive gait ataxia	5832	ALDH18A1	ORPHA:447757
HP:0007240	Progressive gait ataxia	6335	SCN9A	ORPHA:33069
HP:0007240	Progressive gait ataxia	6326	SCN2A	ORPHA:33069
HP:0007240	Progressive gait ataxia	2554	GABRA1	ORPHA:33069
HP:0007240	Progressive gait ataxia	6323	SCN1A	ORPHA:33069
HP:0007240	Progressive gait ataxia	6323	SCN1A	ORPHA:569
HP:0007240	Progressive gait ataxia	6324	SCN1B	ORPHA:33069
HP:0007240	Progressive gait ataxia	57526	PCDH19	ORPHA:33069
HP:0007240	Progressive gait ataxia	2566	GABRG2	ORPHA:33069
HP:0007240	Progressive gait ataxia	4508	MT-ATP6	ORPHA:644
HP:0007240	Progressive gait ataxia	773	CACNA1A	ORPHA:569
HP:0007240	Progressive gait ataxia	112476	PRRT2	ORPHA:569
HP:0007240	Progressive gait ataxia	477	ATP1A2	ORPHA:569
HP:0007240	Progressive gait ataxia	6712	SPTBN2	ORPHA:352403
HP:0007240	Progressive gait ataxia	55149	MTPAP	ORPHA:254343
HP:0007240	Progressive gait ataxia	23400	ATP13A2	ORPHA:513436
HP:0007240	Progressive gait ataxia	5428	POLG	OMIM:607459
HP:0007240	Progressive gait ataxia	56652	TWNK	OMIM:607459
HP:0007240	Progressive gait ataxia	79152	FA2H	ORPHA:329308
HP:0007240	Progressive gait ataxia	2705	GJB1	ORPHA:1175
HP:0007240	Progressive gait ataxia	23064	SETX	OMIM:606002
HP:0007240	Progressive gait ataxia	26278	SACS	OMIM:270550
HP:0007240	Progressive gait ataxia	5192	PEX10	ORPHA:247815
HP:0002143	Abnormal spinal cord morphology	2706	GJB2	ORPHA:494
HP:0002143	Abnormal spinal cord morphology	28982	FLVCR1	ORPHA:88628
HP:0002143	Abnormal spinal cord morphology	9927	MFN2	ORPHA:99947
HP:0002143	Abnormal spinal cord morphology	3187	HNRNPH1	OMIM:620083
HP:0002143	Abnormal spinal cord morphology	5290	PIK3CA	OMIM:612918
HP:0002143	Abnormal spinal cord morphology	54892	NCAPG2	OMIM:618460
HP:0002143	Abnormal spinal cord morphology	84231	TRAF7	OMIM:618164
HP:0002143	Abnormal spinal cord morphology	54496	PRMT7	OMIM:617157
HP:0002143	Abnormal spinal cord morphology	3110	MNX1	OMIM:176450
HP:0002143	Abnormal spinal cord morphology	23028	KDM1A	OMIM:616728
HP:0002143	Abnormal spinal cord morphology	10093	ARPC4	OMIM:620141
HP:0002143	Abnormal spinal cord morphology	2131	EXT1	ORPHA:321
HP:0002143	Abnormal spinal cord morphology	2132	EXT2	ORPHA:321
HP:0002143	Abnormal spinal cord morphology	81839	VANGL1	OMIM:600145
HP:0002143	Abnormal spinal cord morphology	11198	SUPT16H	OMIM:619480
HP:0002143	Abnormal spinal cord morphology	6299	SALL1	OMIM:107480
HP:0002143	Abnormal spinal cord morphology	4774	NFIA	ORPHA:401986
HP:0002143	Abnormal spinal cord morphology	23498	HAAO	OMIM:617660
HP:0002143	Abnormal spinal cord morphology	10815	CPLX1	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	10815	CPLX1	OMIM:194190
HP:0002143	Abnormal spinal cord morphology	54872	PIGG	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	7469	NELFA	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	1487	CTBP1	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	1487	CTBP1	OMIM:194190
HP:0002143	Abnormal spinal cord morphology	3954	LETM1	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	3954	LETM1	OMIM:194190
HP:0002143	Abnormal spinal cord morphology	7468	NSD2	ORPHA:280
HP:0002143	Abnormal spinal cord morphology	7468	NSD2	OMIM:194190
HP:0002143	Abnormal spinal cord morphology	1387	CREBBP	OMIM:618332
HP:0002143	Abnormal spinal cord morphology	1615	DARS1	OMIM:615281
HP:0002143	Abnormal spinal cord morphology	4854	NOTCH3	OMIM:130720
HP:0002143	Abnormal spinal cord morphology	7750	ZMYM2	OMIM:619522
HP:0002143	Abnormal spinal cord morphology	55262	TRAPPC14	OMIM:618351
HP:0002143	Abnormal spinal cord morphology	5888	RAD51	OMIM:617244
HP:0002143	Abnormal spinal cord morphology	53834	FGFRL1	OMIM:194190
HP:0002143	Abnormal spinal cord morphology	1499	CTNNB1	ORPHA:404473
HP:0002143	Abnormal spinal cord morphology	5251	PHEX	OMIM:307800
HP:0002143	Abnormal spinal cord morphology	595	CCND1	ORPHA:29073
HP:0002143	Abnormal spinal cord morphology	324	APC	ORPHA:99818
HP:0002143	Abnormal spinal cord morphology	2778	GNAS	ORPHA:79443
HP:0002143	Abnormal spinal cord morphology	59341	TRPV4	OMIM:113500
HP:0002143	Abnormal spinal cord morphology	3043	HBB	ORPHA:231222
HP:0002143	Abnormal spinal cord morphology	1836	SLC26A2	OMIM:222600
HP:0002143	Abnormal spinal cord morphology	207	AKT1	OMIM:176920
HP:0002143	Abnormal spinal cord morphology	23095	KIF1B	OMIM:256700
HP:0002143	Abnormal spinal cord morphology	25871	NEPRO	OMIM:618853
HP:0002143	Abnormal spinal cord morphology	2304	FOXE1	ORPHA:319487
HP:0002143	Abnormal spinal cord morphology	3026	HABP2	ORPHA:319487
HP:0002143	Abnormal spinal cord morphology	9562	MINPP1	ORPHA:319487
HP:0002143	Abnormal spinal cord morphology	567	B2M	ORPHA:314652
HP:0002143	Abnormal spinal cord morphology	1763	DNA2	OMIM:615807
HP:0002143	Abnormal spinal cord morphology	126792	B3GALT6	OMIM:271640
HP:0002143	Abnormal spinal cord morphology	128240	NAXE	OMIM:617186
HP:0002143	Abnormal spinal cord morphology	1593	CYP27A1	ORPHA:909
HP:0002143	Abnormal spinal cord morphology	5921	RASA1	ORPHA:90307
HP:0002143	Abnormal spinal cord morphology	686	BTD	ORPHA:79241
HP:0002143	Abnormal spinal cord morphology	4771	NF2	ORPHA:637
HP:0002143	Abnormal spinal cord morphology	79158	GNPTAB	OMIM:252500
HP:0002143	Abnormal spinal cord morphology	2720	GLB1	OMIM:253010
HP:0002143	Abnormal spinal cord morphology	2588	GALNS	OMIM:253000
HP:0002143	Abnormal spinal cord morphology	64802	NMNAT1	OMIM:619260
HP:0002143	Abnormal spinal cord morphology	1280	COL2A1	OMIM:183900
HP:0002143	Abnormal spinal cord morphology	411	ARSB	OMIM:253200
HP:0002143	Abnormal spinal cord morphology	1311	COMP	OMIM:177170
HP:0002143	Abnormal spinal cord morphology	2137	EXTL3	ORPHA:508533
HP:0002143	Abnormal spinal cord morphology	6023	RMRP	OMIM:607095
HP:0002143	Abnormal spinal cord morphology	4784	NFIX	OMIM:602535
HP:0002143	Abnormal spinal cord morphology	3425	IDUA	OMIM:607016
HP:0002143	Abnormal spinal cord morphology	3423	IDS	OMIM:309900
HP:0002143	Abnormal spinal cord morphology	415	ARSL	ORPHA:79345
HP:0002143	Abnormal spinal cord morphology	94	ACVRL1	OMIM:600376
HP:0002143	Abnormal spinal cord morphology	2022	ENG	OMIM:187300
HP:0002143	Abnormal spinal cord morphology	22827	PUF60	ORPHA:508498
HP:0002143	Abnormal spinal cord morphology	64840	PORCN	ORPHA:2092
HP:0002143	Abnormal spinal cord morphology	91754	NEK9	ORPHA:64754
HP:0002143	Abnormal spinal cord morphology	4010	LMX1B	OMIM:161200
HP:0002143	Abnormal spinal cord morphology	284058	KANSL1	ORPHA:363965
HP:0002143	Abnormal spinal cord morphology	284058	KANSL1	ORPHA:363958
HP:0002143	Abnormal spinal cord morphology	6628	SNRPB	ORPHA:1393
HP:0002143	Abnormal spinal cord morphology	6662	SOX9	OMIM:114290
HP:0002143	Abnormal spinal cord morphology	2316	FLNA	OMIM:304120
HP:0002143	Abnormal spinal cord morphology	2187	FANCB	ORPHA:3412
HP:0002143	Abnormal spinal cord morphology	2187	FANCB	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	5077	PAX3	ORPHA:894
HP:0002143	Abnormal spinal cord morphology	5077	PAX3	OMIM:193500
HP:0002143	Abnormal spinal cord morphology	4763	NF1	OMIM:162200
HP:0002143	Abnormal spinal cord morphology	672	BRCA1	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	10459	MAD2L2	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	7516	XRCC2	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	29089	UBE2T	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	675	BRCA2	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	55120	FANCL	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2177	FANCD2	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2175	FANCA	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2176	FANCC	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2178	FANCE	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2188	FANCF	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2189	FANCG	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	5889	RAD51C	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	55159	RFWD3	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	83990	BRIP1	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	57697	FANCM	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	79728	PALB2	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	84464	SLX4	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	2072	ERCC4	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	55215	FANCI	ORPHA:84
HP:0002143	Abnormal spinal cord morphology	1312	COMT	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	221037	JMJD1C	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	2812	GP1BB	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	6239	RREB1	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	6899	TBX1	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	7290	HIRA	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	9632	SEC24C	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	7353	UFD1	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	421	ARVCF	ORPHA:567
HP:0002143	Abnormal spinal cord morphology	3265	HRAS	ORPHA:2874
HP:0002143	Abnormal spinal cord morphology	9573	GDF3	ORPHA:2345
HP:0002143	Abnormal spinal cord morphology	392255	GDF6	ORPHA:2345
HP:0002143	Abnormal spinal cord morphology	4222	MEOX1	ORPHA:2345
HP:0002143	Abnormal spinal cord morphology	29968	PSAT1	OMIM:616038
HP:0002143	Abnormal spinal cord morphology	55521	TRIM36	OMIM:206500
HP:0002143	Abnormal spinal cord morphology	2313	FLI1	ORPHA:2308
HP:0002143	Abnormal spinal cord morphology	60386	SLC25A19	ORPHA:99742
HP:0002143	Abnormal spinal cord morphology	26227	PHGDH	OMIM:256520
HP:0002143	Abnormal spinal cord morphology	5727	PTCH1	OMIM:109400
HP:0002143	Abnormal spinal cord morphology	4287	ATXN3	OMIM:109150
HP:0002143	Abnormal spinal cord morphology	4287	ATXN3	ORPHA:276238
HP:0002143	Abnormal spinal cord morphology	4287	ATXN3	ORPHA:276244
HP:0002143	Abnormal spinal cord morphology	4287	ATXN3	ORPHA:276241
HP:0002143	Abnormal spinal cord morphology	6311	ATXN2	OMIM:183090
HP:0002143	Abnormal spinal cord morphology	5575	PRKAR1B	ORPHA:412066
HP:0002143	Abnormal spinal cord morphology	2705	GJB1	ORPHA:1175
HP:0002143	Abnormal spinal cord morphology	5354	PLP1	OMIM:312920
HP:0002143	Abnormal spinal cord morphology	55775	TDP1	ORPHA:94124
HP:0002143	Abnormal spinal cord morphology	85021	REPS1	OMIM:617916
HP:0002143	Abnormal spinal cord morphology	50484	RRM2B	ORPHA:329336
HP:0002143	Abnormal spinal cord morphology	246243	RNASEH1	ORPHA:329336
HP:0002143	Abnormal spinal cord morphology	57167	SALL4	ORPHA:233
HP:0002143	Abnormal spinal cord morphology	57167	SALL4	OMIM:607323
HP:0002143	Abnormal spinal cord morphology	9935	MAFB	ORPHA:233
HP:0002143	Abnormal spinal cord morphology	1123	CHN1	ORPHA:233
HP:0002143	Abnormal spinal cord morphology	6095	RORA	OMIM:618060
HP:0002143	Abnormal spinal cord morphology	3981	LIG4	ORPHA:235
HP:0002143	Abnormal spinal cord morphology	54888	NSUN2	ORPHA:235
HP:0002143	Abnormal spinal cord morphology	9791	PTDSS1	OMIM:151050
HP:0002143	Abnormal spinal cord morphology	9158	FIBP	ORPHA:500095
HP:0002143	Abnormal spinal cord morphology	7148	TNXB	ORPHA:230839
HP:0002143	Abnormal spinal cord morphology	5648	MASP1	OMIM:257920
HP:0002143	Abnormal spinal cord morphology	5648	MASP1	ORPHA:293843
HP:0002143	Abnormal spinal cord morphology	60	ACTB	ORPHA:64755
HP:0002143	Abnormal spinal cord morphology	6804	STX1A	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	7461	CLIP2	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	84277	DNAJC30	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	8468	FKBP6	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	5982	RFC2	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	2969	GTF2I	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	3984	LIMK1	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	9569	GTF2IRD1	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	155382	VPS37D	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	155368	METTL27	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	114049	BUD23	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	7458	EIF4H	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	84163	GTF2IRD2	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	9275	BCL7B	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	26608	TBL2	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	653361	NCF1	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	135886	TMEM270	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	51085	MLXIPL	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	9031	BAZ1B	ORPHA:904
HP:0002143	Abnormal spinal cord morphology	145173	B3GLCT	ORPHA:709
HP:0002143	Abnormal spinal cord morphology	7545	ZIC1	OMIM:616602
HP:0002143	Abnormal spinal cord morphology	7545	ZIC1	OMIM:618736
HP:0002143	Abnormal spinal cord morphology	57216	VANGL2	OMIM:182940
HP:0002143	Abnormal spinal cord morphology	6347	CCL2	OMIM:182940
HP:0002143	Abnormal spinal cord morphology	6862	TBXT	OMIM:182940
HP:0002143	Abnormal spinal cord morphology	5781	PTPN11	ORPHA:500
HP:0002143	Abnormal spinal cord morphology	5781	PTPN11	OMIM:151100
HP:0002143	Abnormal spinal cord morphology	673	BRAF	ORPHA:500
HP:0002143	Abnormal spinal cord morphology	5894	RAF1	ORPHA:500
HP:0002143	Abnormal spinal cord morphology	526	ATP6V1B2	ORPHA:79500
HP:0002143	Abnormal spinal cord morphology	57465	TBC1D24	ORPHA:79500
HP:0002143	Abnormal spinal cord morphology	80781	COL18A1	OMIM:267750
HP:0002143	Abnormal spinal cord morphology	8517	IKBKG	ORPHA:464
HP:0002143	Abnormal spinal cord morphology	51715	RAB23	OMIM:201000
HP:0002143	Abnormal spinal cord morphology	3664	IRF6	OMIM:119500
HP:0002143	Abnormal spinal cord morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0002143	Abnormal spinal cord morphology	139285	AMER1	OMIM:300373
HP:0002143	Abnormal spinal cord morphology	139285	AMER1	ORPHA:2780
HP:0002143	Abnormal spinal cord morphology	4621	MYH3	OMIM:193700
HP:0002143	Abnormal spinal cord morphology	4621	MYH3	ORPHA:2990
HP:0002143	Abnormal spinal cord morphology	57492	ARID1B	OMIM:135900
HP:0002143	Abnormal spinal cord morphology	3756	KCNH1	OMIM:135500
HP:0002143	Abnormal spinal cord morphology	650	BMP2	OMIM:617877
HP:0002143	Abnormal spinal cord morphology	134701	RIPPLY2	ORPHA:2311
HP:0002143	Abnormal spinal cord morphology	10683	DLL3	ORPHA:2311
HP:0002143	Abnormal spinal cord morphology	3955	LFNG	ORPHA:2311
HP:0002143	Abnormal spinal cord morphology	84667	HES7	ORPHA:2311
HP:0002143	Abnormal spinal cord morphology	84667	HES7	OMIM:613686
HP:0002143	Abnormal spinal cord morphology	145873	MESP2	ORPHA:2311
HP:0002143	Abnormal spinal cord morphology	10584	COLEC10	ORPHA:293843
HP:0002143	Abnormal spinal cord morphology	78989	COLEC11	ORPHA:293843
HP:0002143	Abnormal spinal cord morphology	9820	CUL7	OMIM:273750
HP:0002143	Abnormal spinal cord morphology	6885	MAP3K7	ORPHA:1826
HP:0002143	Abnormal spinal cord morphology	1146	CHRNG	ORPHA:2990
HP:0002143	Abnormal spinal cord morphology	3166	HMX1	OMIM:612109
HP:0002143	Abnormal spinal cord morphology	147372	CCBE1	OMIM:235510
HP:0002143	Abnormal spinal cord morphology	6223	RPS19	OMIM:105650
HP:0002143	Abnormal spinal cord morphology	23299	BICD2	OMIM:618291
HP:0002143	Abnormal spinal cord morphology	9401	RECQL4	OMIM:218600
HP:0002143	Abnormal spinal cord morphology	5422	POLA1	OMIM:301030
HP:0002143	Abnormal spinal cord morphology	2317	FLNB	OMIM:150250
HP:0002143	Abnormal spinal cord morphology	8621	CDK13	OMIM:617360
HP:0002143	Abnormal spinal cord morphology	51729	WBP11	OMIM:619227
HP:0002143	Abnormal spinal cord morphology	4921	DDR2	OMIM:271665
HP:0002143	Abnormal spinal cord morphology	2294	FOXF1	OMIM:265380
HP:0002143	Abnormal spinal cord morphology	3590	IL11RA	OMIM:614188
HP:0002143	Abnormal spinal cord morphology	23259	DDHD2	OMIM:615033
HP:0002143	Abnormal spinal cord morphology	95	ACY1	ORPHA:137754
HP:0002143	Abnormal spinal cord morphology	25839	COG4	OMIM:618150
HP:0002143	Abnormal spinal cord morphology	10743	RAI1	ORPHA:477817
HP:0002143	Abnormal spinal cord morphology	92002	CCNQ	ORPHA:140952
HP:0002143	Abnormal spinal cord morphology	2033	EP300	ORPHA:353284
HP:0002143	Abnormal spinal cord morphology	10978	CLP1	OMIM:615803
HP:0002143	Abnormal spinal cord morphology	19	ABCA1	ORPHA:31150
HP:0002143	Abnormal spinal cord morphology	2192	FBLN1	ORPHA:404451
HP:0002143	Abnormal spinal cord morphology	3190	HNRNPK	OMIM:616580
HP:0002143	Abnormal spinal cord morphology	22943	DKK1	ORPHA:268882
HP:0002143	Abnormal spinal cord morphology	6678	SPARC	OMIM:616507
HP:0002143	Abnormal spinal cord morphology	9939	RBM8A	OMIM:274000
HP:0002143	Abnormal spinal cord morphology	8091	HMGA2	ORPHA:94063
HP:0002143	Abnormal spinal cord morphology	23592	LEMD3	ORPHA:94063
HP:0002143	Abnormal spinal cord morphology	860	RUNX2	OMIM:119600
HP:0002143	Abnormal spinal cord morphology	25970	SH2B1	ORPHA:261197
HP:0002143	Abnormal spinal cord morphology	4893	NRAS	OMIM:249400
HP:0002143	Abnormal spinal cord morphology	29072	SETD2	OMIM:616831
HP:0002143	Abnormal spinal cord morphology	80199	FUZ	ORPHA:1136
HP:0002143	Abnormal spinal cord morphology	4853	NOTCH2	ORPHA:955
HP:0002143	Abnormal spinal cord morphology	6911	TBX6	OMIM:122600
HP:0002143	Abnormal spinal cord morphology	51339	DACT1	ORPHA:63260
HP:0002143	Abnormal spinal cord morphology	23064	SETX	OMIM:602433
HP:0002143	Abnormal spinal cord morphology	1130	LYST	ORPHA:167
HP:0002143	Abnormal spinal cord morphology	6687	SPG7	ORPHA:35689
HP:0002143	Abnormal spinal cord morphology	5611	DNAJC3	ORPHA:445062
HP:0002143	Abnormal spinal cord morphology	4524	MTHFR	ORPHA:395
HP:0002143	Abnormal spinal cord morphology	10908	PNPLA6	ORPHA:139480
HP:0002143	Abnormal spinal cord morphology	10908	PNPLA6	OMIM:612020
HP:0002143	Abnormal spinal cord morphology	79152	FA2H	ORPHA:329308
HP:0002143	Abnormal spinal cord morphology	215	ABCD1	ORPHA:139399
HP:0002143	Abnormal spinal cord morphology	9420	CYP7B1	ORPHA:100986
HP:0002143	Abnormal spinal cord morphology	22948	CCT5	OMIM:256840
HP:0002143	Abnormal spinal cord morphology	80208	SPG11	ORPHA:2822
HP:0002143	Abnormal spinal cord morphology	22880	MORC2	ORPHA:466768
HP:0002143	Abnormal spinal cord morphology	25974	MMACHC	ORPHA:79282
HP:0002143	Abnormal spinal cord morphology	5832	ALDH18A1	ORPHA:447757
HP:0002143	Abnormal spinal cord morphology	4001	LMNB1	ORPHA:99027
HP:0002143	Abnormal spinal cord morphology	2729	GCLC	OMIM:230450
HP:0002143	Abnormal spinal cord morphology	6310	ATXN1	OMIM:164400
HP:0002143	Abnormal spinal cord morphology	4125	MAN2B1	OMIM:248500
HP:0002143	Abnormal spinal cord morphology	5428	POLG	OMIM:607459
HP:0002143	Abnormal spinal cord morphology	5428	POLG	ORPHA:70595
HP:0002143	Abnormal spinal cord morphology	56652	TWNK	OMIM:607459
HP:0002143	Abnormal spinal cord morphology	56652	TWNK	ORPHA:70595
HP:0002143	Abnormal spinal cord morphology	5631	PRPS1	ORPHA:1187
HP:0002143	Abnormal spinal cord morphology	5631	PRPS1	OMIM:301835
HP:0002143	Abnormal spinal cord morphology	7428	VHL	OMIM:193300
HP:0002143	Abnormal spinal cord morphology	2303	FOXC2	ORPHA:33001
HP:0002143	Abnormal spinal cord morphology	4548	MTR	OMIM:601634
HP:0002143	Abnormal spinal cord morphology	4552	MTRR	OMIM:601634
HP:0002143	Abnormal spinal cord morphology	4522	MTHFD1	OMIM:601634
HP:0002143	Abnormal spinal cord morphology	3835	KIF22	OMIM:603546
HP:0002143	Abnormal spinal cord morphology	9790	BMS1	ORPHA:1114
HP:0002143	Abnormal spinal cord morphology	5339	PLEC	ORPHA:1114
HP:0002143	Abnormal spinal cord morphology	10054	UBA2	ORPHA:1114
HP:0002143	Abnormal spinal cord morphology	3691	ITGB4	ORPHA:1114
HP:0002143	Abnormal spinal cord morphology	54567	DLL4	ORPHA:1114
HP:0002143	Abnormal spinal cord morphology	388015	RTL1	ORPHA:96334
HP:0002143	Abnormal spinal cord morphology	8788	DLK1	ORPHA:96334
HP:0002143	Abnormal spinal cord morphology	55384	MEG3	ORPHA:96334
HP:0002143	Abnormal spinal cord morphology	65998	ZFTA	ORPHA:251636
HP:0002143	Abnormal spinal cord morphology	5970	RELA	ORPHA:251636
HP:0002143	Abnormal spinal cord morphology	6598	SMARCB1	OMIM:162091
HP:0002143	Abnormal spinal cord morphology	8216	LZTR1	OMIM:615670
HP:0002143	Abnormal spinal cord morphology	2670	GFAP	ORPHA:363722
HP:0002143	Abnormal spinal cord morphology	4747	NEFL	ORPHA:101085
HP:0002143	Abnormal spinal cord morphology	5297	PI4KA	OMIM:619621
HP:0002143	Abnormal spinal cord morphology	2395	FXN	ORPHA:95
HP:0002143	Abnormal spinal cord morphology	55157	DARS2	ORPHA:137898
HP:0002143	Abnormal spinal cord morphology	84188	FAR1	ORPHA:447753
HP:0002143	Abnormal spinal cord morphology	51284	TLR7	OMIM:301080
HP:0002143	Abnormal spinal cord morphology	6253	RTN2	ORPHA:100993
HP:0002143	Abnormal spinal cord morphology	51271	UBAP1	ORPHA:100993
HP:0002143	Abnormal spinal cord morphology	51218	GLRX5	ORPHA:401866
HP:0002143	Abnormal spinal cord morphology	3839	KPNA3	ORPHA:171612
HP:0002143	Abnormal spinal cord morphology	11235	PDCD10	ORPHA:221061
HP:0002143	Abnormal spinal cord morphology	83605	CCM2	ORPHA:221061
HP:0002143	Abnormal spinal cord morphology	889	KRIT1	ORPHA:221061
HP:0002143	Abnormal spinal cord morphology	9897	WASHC5	ORPHA:100989
HP:0002143	Abnormal spinal cord morphology	9197	SLC33A1	ORPHA:171863
HP:0002143	Abnormal spinal cord morphology	51360	MBTPS2	OMIM:308205
HP:0002143	Abnormal spinal cord morphology	11041	B4GAT1	OMIM:615287
HP:0002143	Abnormal spinal cord morphology	4088	SMAD3	ORPHA:284984
HP:0002143	Abnormal spinal cord morphology	4088	SMAD3	OMIM:613795
HP:0002143	Abnormal spinal cord morphology	4088	SMAD3	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	2200	FBN1	OMIM:604308
HP:0002143	Abnormal spinal cord morphology	2200	FBN1	OMIM:154700
HP:0002143	Abnormal spinal cord morphology	2200	FBN1	OMIM:616914
HP:0002143	Abnormal spinal cord morphology	2200	FBN1	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4015	LOX	OMIM:617168
HP:0002143	Abnormal spinal cord morphology	4015	LOX	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	8076	MFAP5	OMIM:616166
HP:0002143	Abnormal spinal cord morphology	8076	MFAP5	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	7048	TGFBR2	OMIM:610168
HP:0002143	Abnormal spinal cord morphology	7048	TGFBR2	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	7042	TGFB2	OMIM:614816
HP:0002143	Abnormal spinal cord morphology	7042	TGFB2	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4629	MYH11	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	7046	TGFBR1	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4087	SMAD2	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	7043	TGFB3	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4089	SMAD4	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	59	ACTA2	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	5592	PRKG1	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	2301	FOXE3	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4144	MAT2A	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	23493	HEY2	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	4638	MYLK	ORPHA:91387
HP:0002143	Abnormal spinal cord morphology	2006	ELN	ORPHA:91387
HP:0002144	Tethered cord	3187	HNRNPH1	OMIM:620083
HP:0002144	Tethered cord	5290	PIK3CA	OMIM:612918
HP:0002144	Tethered cord	54892	NCAPG2	OMIM:618460
HP:0002144	Tethered cord	84231	TRAF7	OMIM:618164
HP:0002144	Tethered cord	54496	PRMT7	OMIM:617157
HP:0002144	Tethered cord	3110	MNX1	OMIM:176450
HP:0002144	Tethered cord	23028	KDM1A	OMIM:616728
HP:0002144	Tethered cord	10093	ARPC4	OMIM:620141
HP:0002144	Tethered cord	2131	EXT1	ORPHA:321
HP:0002144	Tethered cord	2132	EXT2	ORPHA:321
HP:0002144	Tethered cord	81839	VANGL1	OMIM:600145
HP:0002144	Tethered cord	11198	SUPT16H	OMIM:619480
HP:0002144	Tethered cord	6299	SALL1	OMIM:107480
HP:0002144	Tethered cord	4774	NFIA	ORPHA:401986
HP:0002144	Tethered cord	23498	HAAO	OMIM:617660
HP:0002144	Tethered cord	10815	CPLX1	ORPHA:280
HP:0002144	Tethered cord	10815	CPLX1	OMIM:194190
HP:0002144	Tethered cord	54872	PIGG	ORPHA:280
HP:0002144	Tethered cord	7469	NELFA	ORPHA:280
HP:0002144	Tethered cord	1487	CTBP1	ORPHA:280
HP:0002144	Tethered cord	1487	CTBP1	OMIM:194190
HP:0002144	Tethered cord	3954	LETM1	ORPHA:280
HP:0002144	Tethered cord	3954	LETM1	OMIM:194190
HP:0002144	Tethered cord	7468	NSD2	ORPHA:280
HP:0002144	Tethered cord	7468	NSD2	OMIM:194190
HP:0002144	Tethered cord	1387	CREBBP	OMIM:618332
HP:0002144	Tethered cord	1615	DARS1	OMIM:615281
HP:0002144	Tethered cord	4854	NOTCH3	OMIM:130720
HP:0002144	Tethered cord	7750	ZMYM2	OMIM:619522
HP:0002144	Tethered cord	55262	TRAPPC14	OMIM:618351
HP:0002144	Tethered cord	5888	RAD51	OMIM:617244
HP:0002144	Tethered cord	53834	FGFRL1	OMIM:194190
HP:0002144	Tethered cord	1499	CTNNB1	ORPHA:404473
HP:0002145	Frontotemporal dementia	4137	MAPT	OMIM:600274
HP:0002145	Frontotemporal dementia	4137	MAPT	OMIM:172700
HP:0002145	Frontotemporal dementia	4137	MAPT	ORPHA:275864
HP:0002145	Frontotemporal dementia	4137	MAPT	ORPHA:100070
HP:0002145	Frontotemporal dementia	5663	PSEN1	OMIM:600274
HP:0002145	Frontotemporal dementia	5663	PSEN1	OMIM:172700
HP:0002145	Frontotemporal dementia	5663	PSEN1	ORPHA:275864
HP:0002145	Frontotemporal dementia	5663	PSEN1	ORPHA:100070
HP:0002145	Frontotemporal dementia	8398	PLA2G6	ORPHA:199351
HP:0002145	Frontotemporal dementia	8398	PLA2G6	OMIM:612953
HP:0002145	Frontotemporal dementia	25978	CHMP2B	OMIM:600795
HP:0002145	Frontotemporal dementia	25978	CHMP2B	ORPHA:275864
HP:0002145	Frontotemporal dementia	25978	CHMP2B	ORPHA:100070
HP:0002145	Frontotemporal dementia	29978	UBQLN2	OMIM:300857
HP:0002145	Frontotemporal dementia	1540	CYLD	OMIM:619132
HP:0002145	Frontotemporal dementia	7072	TIA1	OMIM:619133
HP:0002145	Frontotemporal dementia	23435	TARDBP	OMIM:612069
HP:0002145	Frontotemporal dementia	23435	TARDBP	ORPHA:275872
HP:0002145	Frontotemporal dementia	400916	CHCHD10	OMIM:615911
HP:0002145	Frontotemporal dementia	400916	CHCHD10	ORPHA:275872
HP:0002145	Frontotemporal dementia	7277	TUBA4A	OMIM:616208
HP:0002145	Frontotemporal dementia	7415	VCP	OMIM:167320
HP:0002145	Frontotemporal dementia	7415	VCP	ORPHA:275872
HP:0002145	Frontotemporal dementia	7415	VCP	ORPHA:275864
HP:0002145	Frontotemporal dementia	7415	VCP	ORPHA:52430
HP:0002145	Frontotemporal dementia	7415	VCP	ORPHA:100070
HP:0002145	Frontotemporal dementia	2521	FUS	ORPHA:275872
HP:0002145	Frontotemporal dementia	8878	SQSTM1	ORPHA:275872
HP:0002145	Frontotemporal dementia	8878	SQSTM1	ORPHA:275864
HP:0002145	Frontotemporal dementia	8878	SQSTM1	OMIM:616437
HP:0002145	Frontotemporal dementia	29110	TBK1	ORPHA:275872
HP:0002145	Frontotemporal dementia	29110	TBK1	OMIM:616439
HP:0002145	Frontotemporal dementia	203228	C9orf72	OMIM:105550
HP:0002145	Frontotemporal dementia	2896	GRN	OMIM:607485
HP:0002145	Frontotemporal dementia	2896	GRN	ORPHA:275864
HP:0002145	Frontotemporal dementia	2896	GRN	ORPHA:100070
HP:0002145	Frontotemporal dementia	899	CCNF	OMIM:619141
HP:0002145	Frontotemporal dementia	23503	ZFYVE26	ORPHA:100996
HP:0002145	Frontotemporal dementia	5575	PRKAR1B	ORPHA:412066
HP:0002145	Frontotemporal dementia	3181	HNRNPA2B1	OMIM:615422
HP:0002145	Frontotemporal dementia	3181	HNRNPA2B1	ORPHA:52430
HP:0002145	Frontotemporal dementia	54664	TMEM106B	ORPHA:275864
HP:0002145	Frontotemporal dementia	54664	TMEM106B	ORPHA:100070
HP:0002145	Frontotemporal dementia	54209	TREM2	ORPHA:275864
HP:0002145	Frontotemporal dementia	54209	TREM2	ORPHA:100070
HP:0002145	Frontotemporal dementia	1639	DCTN1	OMIM:168605
HP:0002145	Frontotemporal dementia	3178	HNRNPA1	ORPHA:52430
HP:0002145	Frontotemporal dementia	5664	PSEN2	ORPHA:1020
HP:0002145	Frontotemporal dementia	10452	TOMM40	ORPHA:1020
HP:0002145	Frontotemporal dementia	351	APP	ORPHA:1020
HP:0002145	Frontotemporal dementia	10347	ABCA7	ORPHA:1020
HP:0002145	Frontotemporal dementia	6653	SORL1	ORPHA:1020
HP:0001939	Abnormality of metabolism/homeostasis	2132	EXT2	OMIM:616682
HP:0001939	Abnormality of metabolism/homeostasis	6595	SMARCA2	ORPHA:2728
HP:0001939	Abnormality of metabolism/homeostasis	79693	YRDC	OMIM:619609
HP:0001939	Abnormality of metabolism/homeostasis	83480	PUS3	ORPHA:488627
HP:0001939	Abnormality of metabolism/homeostasis	4036	LRP2	ORPHA:2143
HP:0001939	Abnormality of metabolism/homeostasis	4036	LRP2	OMIM:222448
HP:0001939	Abnormality of metabolism/homeostasis	4094	MAF	ORPHA:1272
HP:0001939	Abnormality of metabolism/homeostasis	2934	GSN	ORPHA:85448
HP:0001939	Abnormality of metabolism/homeostasis	2303	FOXC2	ORPHA:33001
HP:0001939	Abnormality of metabolism/homeostasis	51004	COQ6	OMIM:614650
HP:0001939	Abnormality of metabolism/homeostasis	81603	TRIM8	OMIM:619428
HP:0001939	Abnormality of metabolism/homeostasis	55243	KIRREL1	OMIM:619201
HP:0001939	Abnormality of metabolism/homeostasis	9342	SNAP29	ORPHA:66631
HP:0001939	Abnormality of metabolism/homeostasis	112858	TP53RK	OMIM:617730
HP:0001939	Abnormality of metabolism/homeostasis	112858	TP53RK	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	8270	LAGE3	OMIM:301006
HP:0001939	Abnormality of metabolism/homeostasis	8270	LAGE3	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	51002	TPRKB	OMIM:617731
HP:0001939	Abnormality of metabolism/homeostasis	51002	TPRKB	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	9935	MAFB	ORPHA:2774
HP:0001939	Abnormality of metabolism/homeostasis	9935	MAFB	OMIM:166300
HP:0001939	Abnormality of metabolism/homeostasis	57728	WDR19	OMIM:614376
HP:0001939	Abnormality of metabolism/homeostasis	57728	WDR19	OMIM:614377
HP:0001939	Abnormality of metabolism/homeostasis	9780	PIEZO1	OMIM:616843
HP:0001939	Abnormality of metabolism/homeostasis	5626	PROP1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	89884	LHX4	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	8022	LHX3	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	5449	POU1F1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	8820	HESX1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	405753	DUOXA2	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	6528	SLC5A5	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	7038	TG	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	7173	TPO	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	389434	IYD	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	50506	DUOX2	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	9401	RECQL4	ORPHA:221016
HP:0001939	Abnormality of metabolism/homeostasis	2050	EPHB4	ORPHA:90186
HP:0001939	Abnormality of metabolism/homeostasis	2050	EPHB4	OMIM:617300
HP:0001939	Abnormality of metabolism/homeostasis	5340	PLG	OMIM:619360
HP:0001939	Abnormality of metabolism/homeostasis	284	ANGPT1	OMIM:619361
HP:0001939	Abnormality of metabolism/homeostasis	213	ALB	ORPHA:86816
HP:0001939	Abnormality of metabolism/homeostasis	84868	HAVCR2	OMIM:618398
HP:0001939	Abnormality of metabolism/homeostasis	26509	MYOF	OMIM:619366
HP:0001939	Abnormality of metabolism/homeostasis	64711	HS3ST6	OMIM:619367
HP:0001939	Abnormality of metabolism/homeostasis	7252	TSHB	ORPHA:90674
HP:0001939	Abnormality of metabolism/homeostasis	2161	F12	OMIM:610618
HP:0001939	Abnormality of metabolism/homeostasis	64682	ANAPC1	ORPHA:221008
HP:0001939	Abnormality of metabolism/homeostasis	629	CFB	OMIM:612924
HP:0001939	Abnormality of metabolism/homeostasis	1776	DNASE1L3	ORPHA:36412
HP:0001939	Abnormality of metabolism/homeostasis	7056	THBD	OMIM:612926
HP:0001939	Abnormality of metabolism/homeostasis	3655	ITGA6	ORPHA:79403
HP:0001939	Abnormality of metabolism/homeostasis	6720	SREBF1	OMIM:158310
HP:0001939	Abnormality of metabolism/homeostasis	9380	GRHPR	OMIM:260000
HP:0001939	Abnormality of metabolism/homeostasis	25959	KANK2	OMIM:617783
HP:0001939	Abnormality of metabolism/homeostasis	10413	YAP1	ORPHA:1473
HP:0001939	Abnormality of metabolism/homeostasis	10413	YAP1	OMIM:120433
HP:0001939	Abnormality of metabolism/homeostasis	1286	COL4A4	OMIM:141200
HP:0001939	Abnormality of metabolism/homeostasis	1286	COL4A4	OMIM:203780
HP:0001939	Abnormality of metabolism/homeostasis	51726	DNAJB11	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	23193	GANAB	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	5310	PKD1	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	29880	ALG5	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	79796	ALG9	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	80114	BICC1	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	1801	DPH1	OMIM:616901
HP:0001939	Abnormality of metabolism/homeostasis	55109	AGGF1	ORPHA:90308
HP:0001939	Abnormality of metabolism/homeostasis	2159	F10	ORPHA:328
HP:0001939	Abnormality of metabolism/homeostasis	27031	NPHP3	OMIM:604387
HP:0001939	Abnormality of metabolism/homeostasis	54	ACP5	ORPHA:1855
HP:0001939	Abnormality of metabolism/homeostasis	4069	LYZ	OMIM:105200
HP:0001939	Abnormality of metabolism/homeostasis	2243	FGA	OMIM:105200
HP:0001939	Abnormality of metabolism/homeostasis	1282	COL4A1	ORPHA:73229
HP:0001939	Abnormality of metabolism/homeostasis	1282	COL4A1	OMIM:611773
HP:0001939	Abnormality of metabolism/homeostasis	5345	SERPINF2	ORPHA:79
HP:0001939	Abnormality of metabolism/homeostasis	10253	SPRY2	OMIM:616818
HP:0001939	Abnormality of metabolism/homeostasis	2811	GP1BA	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3674	ITGA2B	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3673	ITGA2	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	135228	CD109	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3690	ITGB3	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	94	ACVRL1	ORPHA:774
HP:0001939	Abnormality of metabolism/homeostasis	2022	ENG	ORPHA:774
HP:0001939	Abnormality of metabolism/homeostasis	2157	F8	ORPHA:169805
HP:0001939	Abnormality of metabolism/homeostasis	2629	GBA1	ORPHA:77261
HP:0001939	Abnormality of metabolism/homeostasis	2629	GBA1	ORPHA:77259
HP:0001939	Abnormality of metabolism/homeostasis	112817	HOGA1	ORPHA:93600
HP:0001939	Abnormality of metabolism/homeostasis	1288	COL4A6	ORPHA:1018
HP:0001939	Abnormality of metabolism/homeostasis	81555	YIPF5	OMIM:619278
HP:0001939	Abnormality of metabolism/homeostasis	55627	SMPD4	OMIM:618622
HP:0001939	Abnormality of metabolism/homeostasis	60675	PROK2	OMIM:610628
HP:0001939	Abnormality of metabolism/homeostasis	169792	GLIS3	OMIM:610199
HP:0001939	Abnormality of metabolism/homeostasis	4976	OPA1	ORPHA:98673
HP:0001939	Abnormality of metabolism/homeostasis	4976	OPA1	ORPHA:1215
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:177904
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:177901
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:98754
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:177904
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:177901
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:98754
HP:0001939	Abnormality of metabolism/homeostasis	23592	LEMD3	ORPHA:94063
HP:0001939	Abnormality of metabolism/homeostasis	8195	MKKS	OMIM:605231
HP:0001939	Abnormality of metabolism/homeostasis	2707	GJB3	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	2531	KDSR	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	127534	GJB4	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	2395	FXN	ORPHA:95
HP:0001939	Abnormality of metabolism/homeostasis	2395	FXN	OMIM:229300
HP:0001939	Abnormality of metabolism/homeostasis	79759	ZNF668	OMIM:620194
HP:0001939	Abnormality of metabolism/homeostasis	5879	RAC1	ORPHA:500159
HP:0001939	Abnormality of metabolism/homeostasis	4693	NDP	ORPHA:649
HP:0001939	Abnormality of metabolism/homeostasis	5611	DNAJC3	ORPHA:445062
HP:0001939	Abnormality of metabolism/homeostasis	23503	ZFYVE26	ORPHA:100996
HP:0001939	Abnormality of metabolism/homeostasis	80169	CTC1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	26277	TINF2	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55651	NHP2	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	79650	USB1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55135	WRAP53	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	7012	TERC	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55505	NOP10	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	5073	PARN	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	1736	DKC1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	25886	POC1A	OMIM:614813
HP:0001939	Abnormality of metabolism/homeostasis	3480	IGF1R	OMIM:270450
HP:0001939	Abnormality of metabolism/homeostasis	23137	SMC5	OMIM:620185
HP:0001939	Abnormality of metabolism/homeostasis	3290	HSD11B1	OMIM:614662
HP:0001939	Abnormality of metabolism/homeostasis	221496	LEMD2	OMIM:619322
HP:0001939	Abnormality of metabolism/homeostasis	9927	MFN2	ORPHA:2398
HP:0001939	Abnormality of metabolism/homeostasis	79140	CCDC28B	OMIM:209900
HP:0001939	Abnormality of metabolism/homeostasis	2733	GLE1	OMIM:253310
HP:0001939	Abnormality of metabolism/homeostasis	3849	KRT2	ORPHA:455
HP:0001939	Abnormality of metabolism/homeostasis	3860	KRT13	OMIM:615785
HP:0001939	Abnormality of metabolism/homeostasis	2776	GNAQ	ORPHA:624
HP:0001939	Abnormality of metabolism/homeostasis	55704	CCDC88A	OMIM:617507
HP:0001939	Abnormality of metabolism/homeostasis	2065	ERBB3	OMIM:607598
HP:0001939	Abnormality of metabolism/homeostasis	203068	TUBB	ORPHA:2505
HP:0001939	Abnormality of metabolism/homeostasis	10982	MAPRE2	ORPHA:2505
HP:0001939	Abnormality of metabolism/homeostasis	123624	AGBL1	ORPHA:98974
HP:0001939	Abnormality of metabolism/homeostasis	64132	XYLT2	OMIM:605822
HP:0001939	Abnormality of metabolism/homeostasis	998	CDC42	ORPHA:487796
HP:0001939	Abnormality of metabolism/homeostasis	998	CDC42	OMIM:616737
HP:0001939	Abnormality of metabolism/homeostasis	5784	PTPN14	OMIM:613611
HP:0001939	Abnormality of metabolism/homeostasis	118429	ANTXR2	ORPHA:2176
HP:0001939	Abnormality of metabolism/homeostasis	5649	RELN	OMIM:257320
HP:0001939	Abnormality of metabolism/homeostasis	7075	TIE1	OMIM:619401
HP:0001939	Abnormality of metabolism/homeostasis	285	ANGPT2	OMIM:619369
HP:0001939	Abnormality of metabolism/homeostasis	5594	MAPK1	OMIM:619087
HP:0001939	Abnormality of metabolism/homeostasis	8642	DCHS1	ORPHA:314679
HP:0001939	Abnormality of metabolism/homeostasis	22800	RRAS2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6237	RRAS	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	22808	MRAS	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	200734	SPRED2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6654	SOS1	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6655	SOS2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	5781	PTPN11	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	5781	PTPN11	OMIM:163950
HP:0001939	Abnormality of metabolism/homeostasis	5922	RASA2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	80208	SPG11	ORPHA:2822
HP:0001939	Abnormality of metabolism/homeostasis	374654	KIF7	OMIM:607131
HP:0001939	Abnormality of metabolism/homeostasis	7424	VEGFC	OMIM:615907
HP:0001939	Abnormality of metabolism/homeostasis	6399	TRAPPC2	ORPHA:93284
HP:0001939	Abnormality of metabolism/homeostasis	8838	CCN6	OMIM:208230
HP:0001939	Abnormality of metabolism/homeostasis	8838	CCN6	ORPHA:1159
HP:0001939	Abnormality of metabolism/homeostasis	3248	HPGD	ORPHA:1525
HP:0001939	Abnormality of metabolism/homeostasis	3248	HPGD	ORPHA:2796
HP:0001939	Abnormality of metabolism/homeostasis	2244	FGB	ORPHA:98880
HP:0001939	Abnormality of metabolism/homeostasis	2266	FGG	ORPHA:98880
HP:0001939	Abnormality of metabolism/homeostasis	1289	COL5A1	ORPHA:287
HP:0001939	Abnormality of metabolism/homeostasis	1290	COL5A2	ORPHA:287
HP:0001939	Abnormality of metabolism/homeostasis	4921	DDR2	OMIM:618175
HP:0001939	Abnormality of metabolism/homeostasis	56172	ANKH	ORPHA:1416
HP:0001939	Abnormality of metabolism/homeostasis	11020	IFT27	OMIM:615996
HP:0001939	Abnormality of metabolism/homeostasis	5590	PRKCZ	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	2563	GABRD	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	23013	SPEN	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	8510	MMP23B	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	7798	LUZP1	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	6497	SKI	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	10630	PDPN	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	10277	UBE4B	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	8514	KCNAB2	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	473	RERE	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	63976	PRDM16	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	54897	CASZ1	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	3178	HNRNPA1	ORPHA:52430
HP:0001939	Abnormality of metabolism/homeostasis	3181	HNRNPA2B1	ORPHA:52430
HP:0001939	Abnormality of metabolism/homeostasis	51651	PTRH2	OMIM:616263
HP:0001939	Abnormality of metabolism/homeostasis	9757	KMT2B	OMIM:619934
HP:0001939	Abnormality of metabolism/homeostasis	27183	VPS4A	OMIM:619273
HP:0001939	Abnormality of metabolism/homeostasis	5337	PLD1	OMIM:212093
HP:0001939	Abnormality of metabolism/homeostasis	1836	SLC26A2	OMIM:600972
HP:0001939	Abnormality of metabolism/homeostasis	1836	SLC26A2	ORPHA:93298
HP:0001939	Abnormality of metabolism/homeostasis	4750	NEK1	OMIM:263520
HP:0001939	Abnormality of metabolism/homeostasis	55112	DYNC2I1	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	57560	IFT80	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	79659	DYNC2H1	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	89891	DYNC2I2	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	91754	NEK9	OMIM:617022
HP:0001939	Abnormality of metabolism/homeostasis	2122	MECOM	OMIM:616738
HP:0001939	Abnormality of metabolism/homeostasis	7476	WNT7A	ORPHA:2879
HP:0001939	Abnormality of metabolism/homeostasis	2317	FLNB	ORPHA:1263
HP:0001939	Abnormality of metabolism/homeostasis	1301	COL11A1	OMIM:228520
HP:0001939	Abnormality of metabolism/homeostasis	4905	NSF	OMIM:619340
HP:0001939	Abnormality of metabolism/homeostasis	4591	TRIM37	OMIM:253250
HP:0001939	Abnormality of metabolism/homeostasis	3039	HBA1	ORPHA:163596
HP:0001939	Abnormality of metabolism/homeostasis	3040	HBA2	ORPHA:163596
HP:0001939	Abnormality of metabolism/homeostasis	5530	PPP3CA	OMIM:618265
HP:0001939	Abnormality of metabolism/homeostasis	1278	COL1A2	OMIM:166210
HP:0001939	Abnormality of metabolism/homeostasis	55901	THSD1	OMIM:620244
HP:0001939	Abnormality of metabolism/homeostasis	6138	RPL15	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6229	RPS24	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6125	RPL5	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6224	RPS20	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6165	RPL35A	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6223	RPS19	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6232	RPS27	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6231	RPS26	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	11224	RPL35	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6160	RPL31	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6218	RPS17	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6201	RPS7	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6155	RPL27	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6154	RPL26	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6210	RPS15A	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	90121	TSR2	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6141	RPL18	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6235	RPS29	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6234	RPS28	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	57538	ALPK3	OMIM:618052
HP:0001939	Abnormality of metabolism/homeostasis	23426	GRIP1	OMIM:617667
HP:0001939	Abnormality of metabolism/homeostasis	5921	RASA1	ORPHA:137667
HP:0001939	Abnormality of metabolism/homeostasis	29969	MDFIC	OMIM:620014
HP:0001939	Abnormality of metabolism/homeostasis	23169	SLC35D1	OMIM:269250
HP:0001939	Abnormality of metabolism/homeostasis	6288	SAA1	ORPHA:85445
HP:0001939	Abnormality of metabolism/homeostasis	7915	ALDH5A1	ORPHA:22
HP:0001939	Abnormality of metabolism/homeostasis	5199	CFP	OMIM:312060
HP:0001939	Abnormality of metabolism/homeostasis	7172	TPMT	OMIM:610460
HP:0001939	Abnormality of metabolism/homeostasis	4166	CHST6	ORPHA:98969
HP:0001939	Abnormality of metabolism/homeostasis	4166	CHST6	OMIM:217800
HP:0001939	Abnormality of metabolism/homeostasis	2316	FLNA	OMIM:314400
HP:0001939	Abnormality of metabolism/homeostasis	51	ACOX1	ORPHA:2971
HP:0001939	Abnormality of metabolism/homeostasis	1186	CLCN7	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	29887	SNX10	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	8600	TNFSF11	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	10	NAT2	OMIM:243400
HP:0001939	Abnormality of metabolism/homeostasis	6716	SRD5A2	OMIM:264600
HP:0001939	Abnormality of metabolism/homeostasis	3908	LAMA2	ORPHA:258
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309271
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309263
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309256
HP:0001939	Abnormality of metabolism/homeostasis	29958	DMGDH	ORPHA:243343
HP:0001939	Abnormality of metabolism/homeostasis	84133	ZNRF3	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	1029	CDKN2A	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	7015	TERT	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	22	ABCB7	OMIM:301310
HP:0001939	Abnormality of metabolism/homeostasis	1565	CYP2D6	OMIM:608902
HP:0001939	Abnormality of metabolism/homeostasis	2512	FTL	ORPHA:163
HP:0001939	Abnormality of metabolism/homeostasis	3293	HSD17B3	OMIM:264300
HP:0001939	Abnormality of metabolism/homeostasis	175	AGA	OMIM:208400
HP:0001939	Abnormality of metabolism/homeostasis	26503	SLC17A5	OMIM:604369
HP:0001939	Abnormality of metabolism/homeostasis	11322	TMC6	OMIM:226400
HP:0001939	Abnormality of metabolism/homeostasis	778	CACNA1F	OMIM:300600
HP:0001939	Abnormality of metabolism/homeostasis	11146	GLMN	OMIM:138000
HP:0001939	Abnormality of metabolism/homeostasis	5241	PGR	OMIM:264080
HP:0001939	Abnormality of metabolism/homeostasis	137814	NKX2-6	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	1482	NKX2-5	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	2627	GATA6	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	4353	MPO	OMIM:254600
HP:0001939	Abnormality of metabolism/homeostasis	5264	PHYH	ORPHA:773
HP:0001939	Abnormality of metabolism/homeostasis	5191	PEX7	ORPHA:773
HP:0001939	Abnormality of metabolism/homeostasis	55670	PEX26	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5824	PEX19	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	8504	PEX3	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	9409	PEX16	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	8799	PEX11B	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5193	PEX12	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5194	PEX13	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5195	PEX14	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	3851	KRT4	OMIM:193900
HP:0001939	Abnormality of metabolism/homeostasis	5538	PPT1	OMIM:256730
HP:0001939	Abnormality of metabolism/homeostasis	80324	PUS1	ORPHA:2598
HP:0001939	Abnormality of metabolism/homeostasis	51067	YARS2	ORPHA:2598
HP:0001939	Abnormality of metabolism/homeostasis	29893	PSMC3IP	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	171568	POLR3H	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	2516	NR5A1	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	125150	ZSWIM7	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	9210	BMP15	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	23514	SPIDR	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	2492	FSHR	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	646	BNC1	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	4548	MTR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4552	MTRR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4524	MTHFR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4522	MTHFD1	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	54463	RETREG1	OMIM:201300
HP:0001939	Abnormality of metabolism/homeostasis	29960	MRM2	OMIM:618567
HP:0001939	Abnormality of metabolism/homeostasis	3773	KCNJ16	OMIM:619406
HP:0001939	Abnormality of metabolism/homeostasis	83483	PLVAP	OMIM:618183
HP:0001939	Abnormality of metabolism/homeostasis	5087	PBX1	ORPHA:97362
HP:0001939	Abnormality of metabolism/homeostasis	4967	OGDH	OMIM:203740
HP:0001939	Abnormality of metabolism/homeostasis	5250	SLC25A3	ORPHA:91130
HP:0001939	Abnormality of metabolism/homeostasis	5250	SLC25A3	OMIM:610773
HP:0001939	Abnormality of metabolism/homeostasis	56945	MRPS22	OMIM:611719
HP:0001939	Abnormality of metabolism/homeostasis	23395	LARS2	OMIM:617021
HP:0001939	Abnormality of metabolism/homeostasis	58528	RRAGD	OMIM:620152
HP:0001939	Abnormality of metabolism/homeostasis	10616	RBCK1	OMIM:615895
HP:0001939	Abnormality of metabolism/homeostasis	353	APRT	OMIM:614723
HP:0001939	Abnormality of metabolism/homeostasis	4329	ALDH6A1	OMIM:614105
HP:0001939	Abnormality of metabolism/homeostasis	27068	PPA2	OMIM:617222
HP:0001939	Abnormality of metabolism/homeostasis	7284	TUFM	OMIM:610678
HP:0001939	Abnormality of metabolism/homeostasis	3762	KCNJ5	OMIM:613677
HP:0001939	Abnormality of metabolism/homeostasis	57505	AARS2	OMIM:614096
HP:0001939	Abnormality of metabolism/homeostasis	65125	WNK1	OMIM:614492
HP:0001939	Abnormality of metabolism/homeostasis	51733	UPB1	OMIM:613161
HP:0001939	Abnormality of metabolism/homeostasis	8452	CUL3	OMIM:614496
HP:0001939	Abnormality of metabolism/homeostasis	5052	PRDX1	OMIM:277400
HP:0001939	Abnormality of metabolism/homeostasis	1534	CYB561	OMIM:618182
HP:0001939	Abnormality of metabolism/homeostasis	23417	MLYCD	OMIM:248360
HP:0001939	Abnormality of metabolism/homeostasis	3481	IGF2	ORPHA:231140
HP:0001939	Abnormality of metabolism/homeostasis	3481	IGF2	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	283120	H19	ORPHA:231140
HP:0001939	Abnormality of metabolism/homeostasis	3158	HMGCS2	ORPHA:35701
HP:0001939	Abnormality of metabolism/homeostasis	5015	OTX2	OMIM:613986
HP:0001939	Abnormality of metabolism/homeostasis	5015	OTX2	ORPHA:95494
HP:0001939	Abnormality of metabolism/homeostasis	2538	G6PC1	OMIM:232200
HP:0001939	Abnormality of metabolism/homeostasis	501	ALDH7A1	ORPHA:3006
HP:0001939	Abnormality of metabolism/homeostasis	11212	PLPBP	ORPHA:3006
HP:0001939	Abnormality of metabolism/homeostasis	2697	GJA1	ORPHA:2710
HP:0001939	Abnormality of metabolism/homeostasis	79087	ALG12	OMIM:607143
HP:0001939	Abnormality of metabolism/homeostasis	2688	GH1	OMIM:262400
HP:0001939	Abnormality of metabolism/homeostasis	5528	PPP2R5D	OMIM:616355
HP:0001939	Abnormality of metabolism/homeostasis	5528	PPP2R5D	ORPHA:457279
HP:0001939	Abnormality of metabolism/homeostasis	84342	COG8	ORPHA:95428
HP:0001939	Abnormality of metabolism/homeostasis	3265	HRAS	OMIM:218040
HP:0001939	Abnormality of metabolism/homeostasis	129563	DIS3L2	OMIM:267000
HP:0001939	Abnormality of metabolism/homeostasis	4953	ODC1	OMIM:619075
HP:0001939	Abnormality of metabolism/homeostasis	51594	NBAS	OMIM:616483
HP:0001939	Abnormality of metabolism/homeostasis	5447	POR	OMIM:201750
HP:0001939	Abnormality of metabolism/homeostasis	1629	DBT	OMIM:248600
HP:0001939	Abnormality of metabolism/homeostasis	593	BCKDHA	OMIM:248600
HP:0001939	Abnormality of metabolism/homeostasis	594	BCKDHB	OMIM:248600
HP:0001939	Abnormality of metabolism/homeostasis	8879	SGPL1	OMIM:617575
HP:0001939	Abnormality of metabolism/homeostasis	5255	PHKA1	OMIM:300559
HP:0001939	Abnormality of metabolism/homeostasis	51660	MPC1	OMIM:614741
HP:0001939	Abnormality of metabolism/homeostasis	55699	IARS2	OMIM:616007
HP:0001939	Abnormality of metabolism/homeostasis	6566	SLC16A1	OMIM:610021
HP:0001939	Abnormality of metabolism/homeostasis	7381	UQCRB	OMIM:615158
HP:0001939	Abnormality of metabolism/homeostasis	4519	MT-CYB	ORPHA:137675
HP:0001939	Abnormality of metabolism/homeostasis	79753	SNIP1	OMIM:614501
HP:0001939	Abnormality of metabolism/homeostasis	5836	PYGL	OMIM:232700
HP:0001939	Abnormality of metabolism/homeostasis	5836	PYGL	ORPHA:369
HP:0001939	Abnormality of metabolism/homeostasis	5728	PTEN	ORPHA:109
HP:0001939	Abnormality of metabolism/homeostasis	128674	PROKR2	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	55717	WDR11	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	6091	ROBO1	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	23432	GPR161	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	3170	FOXA2	ORPHA:95494
HP:0001939	Abnormality of metabolism/homeostasis	2908	NR3C1	OMIM:615962
HP:0001939	Abnormality of metabolism/homeostasis	2908	NR3C1	ORPHA:786
HP:0001939	Abnormality of metabolism/homeostasis	1028	CDKN1C	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	5324	PLAG1	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	8091	HMGA2	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	4665	NAB2	ORPHA:2126
HP:0001939	Abnormality of metabolism/homeostasis	6778	STAT6	ORPHA:2126
HP:0001939	Abnormality of metabolism/homeostasis	28976	ACAD9	OMIM:611126
HP:0001939	Abnormality of metabolism/homeostasis	471	ATIC	OMIM:608688
HP:0001939	Abnormality of metabolism/homeostasis	34	ACADM	ORPHA:42
HP:0001939	Abnormality of metabolism/homeostasis	34	ACADM	OMIM:201450
HP:0001939	Abnormality of metabolism/homeostasis	7030	TFE3	OMIM:301066
HP:0001939	Abnormality of metabolism/homeostasis	2239	GPC4	ORPHA:373
HP:0001939	Abnormality of metabolism/homeostasis	2719	GPC3	ORPHA:373
HP:0001939	Abnormality of metabolism/homeostasis	54941	RNF125	OMIM:616260
HP:0001939	Abnormality of metabolism/homeostasis	8565	YARS1	OMIM:619418
HP:0001939	Abnormality of metabolism/homeostasis	2184	FAH	OMIM:276700
HP:0001939	Abnormality of metabolism/homeostasis	178	AGL	ORPHA:366
HP:0001939	Abnormality of metabolism/homeostasis	178	AGL	OMIM:232400
HP:0001939	Abnormality of metabolism/homeostasis	6658	SOX3	ORPHA:90695
HP:0001939	Abnormality of metabolism/homeostasis	3479	IGF1	ORPHA:73272
HP:0001939	Abnormality of metabolism/homeostasis	91949	COG7	OMIM:608779
HP:0001939	Abnormality of metabolism/homeostasis	2690	GHR	ORPHA:314802
HP:0001939	Abnormality of metabolism/homeostasis	2690	GHR	ORPHA:633
HP:0001939	Abnormality of metabolism/homeostasis	256297	PTF1A	OMIM:609069
HP:0001939	Abnormality of metabolism/homeostasis	549	AUH	ORPHA:67046
HP:0001939	Abnormality of metabolism/homeostasis	10525	HYOU1	OMIM:233600
HP:0001939	Abnormality of metabolism/homeostasis	2530	FUT8	OMIM:618005
HP:0001939	Abnormality of metabolism/homeostasis	513	ATP5F1D	OMIM:618120
HP:0001939	Abnormality of metabolism/homeostasis	7019	TFAM	OMIM:617156
HP:0001939	Abnormality of metabolism/homeostasis	10352	WARS2	OMIM:617710
HP:0001939	Abnormality of metabolism/homeostasis	128989	TANGO2	ORPHA:480864
HP:0001939	Abnormality of metabolism/homeostasis	128989	TANGO2	OMIM:616878
HP:0001939	Abnormality of metabolism/homeostasis	9971	NR1H4	OMIM:617049
HP:0001939	Abnormality of metabolism/homeostasis	2475	MTOR	OMIM:616638
HP:0001939	Abnormality of metabolism/homeostasis	55186	SLC25A36	OMIM:620211
HP:0001939	Abnormality of metabolism/homeostasis	2584	GALK1	ORPHA:79237
HP:0001939	Abnormality of metabolism/homeostasis	1589	CYP21A2	OMIM:201910
HP:0001939	Abnormality of metabolism/homeostasis	9150	CTDP1	ORPHA:48431
HP:0001939	Abnormality of metabolism/homeostasis	80036	TRPM3	OMIM:620224
HP:0001939	Abnormality of metabolism/homeostasis	55278	QRSL1	OMIM:618835
HP:0001939	Abnormality of metabolism/homeostasis	5188	GATB	OMIM:618838
HP:0001939	Abnormality of metabolism/homeostasis	93587	TRMT10A	ORPHA:391408
HP:0001939	Abnormality of metabolism/homeostasis	84919	PPP1R15B	ORPHA:391408
HP:0001939	Abnormality of metabolism/homeostasis	283459	GATC	OMIM:618839
HP:0001939	Abnormality of metabolism/homeostasis	5495	PPM1B	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	6519	SLC3A1	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	9581	PREPL	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	79823	CAMKMT	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	55252	ASXL2	OMIM:617190
HP:0001939	Abnormality of metabolism/homeostasis	51081	MRPS7	OMIM:617872
HP:0001939	Abnormality of metabolism/homeostasis	4791	NFKB2	OMIM:615577
HP:0001939	Abnormality of metabolism/homeostasis	1968	EIF2S3	OMIM:300148
HP:0001939	Abnormality of metabolism/homeostasis	7388	UQCRH	OMIM:620137
HP:0001939	Abnormality of metabolism/homeostasis	2693	GHSR	ORPHA:314811
HP:0001939	Abnormality of metabolism/homeostasis	2108	ETFA	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	2109	ETFB	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	2110	ETFDH	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	197322	ACSF3	OMIM:614265
HP:0001939	Abnormality of metabolism/homeostasis	197322	ACSF3	ORPHA:289504
HP:0001939	Abnormality of metabolism/homeostasis	6809	STX3	ORPHA:2290
HP:0001939	Abnormality of metabolism/homeostasis	79827	CLMP	OMIM:615237
HP:0001939	Abnormality of metabolism/homeostasis	3909	LAMA3	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	3918	LAMC2	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	3914	LAMB3	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	50674	NEUROG3	ORPHA:83620
HP:0001939	Abnormality of metabolism/homeostasis	50674	NEUROG3	OMIM:610370
HP:0001939	Abnormality of metabolism/homeostasis	6523	SLC5A1	ORPHA:35710
HP:0001939	Abnormality of metabolism/homeostasis	3284	HSD3B2	ORPHA:90791
HP:0001939	Abnormality of metabolism/homeostasis	6774	STAT3	ORPHA:99885
HP:0001939	Abnormality of metabolism/homeostasis	3630	INS	ORPHA:99885
HP:0001939	Abnormality of metabolism/homeostasis	346171	ZFP57	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	346171	ZFP57	OMIM:601410
HP:0001939	Abnormality of metabolism/homeostasis	57061	HYMAI	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	57061	HYMAI	ORPHA:96191
HP:0001939	Abnormality of metabolism/homeostasis	57061	HYMAI	OMIM:601410
HP:0001939	Abnormality of metabolism/homeostasis	5325	PLAGL1	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	5325	PLAGL1	ORPHA:96191
HP:0001939	Abnormality of metabolism/homeostasis	4072	EPCAM	ORPHA:92050
HP:0001939	Abnormality of metabolism/homeostasis	105371045	PERCC1	ORPHA:92050
HP:0001939	Abnormality of metabolism/homeostasis	114548	NLRP3	ORPHA:47045
HP:0001939	Abnormality of metabolism/homeostasis	1956	EGFR	OMIM:616069
HP:0001939	Abnormality of metabolism/homeostasis	84693	MCEE	OMIM:251120
HP:0001939	Abnormality of metabolism/homeostasis	3712	IVD	OMIM:243500
HP:0001939	Abnormality of metabolism/homeostasis	6557	SLC12A1	OMIM:601678
HP:0001939	Abnormality of metabolism/homeostasis	3758	KCNJ1	OMIM:241200
HP:0001939	Abnormality of metabolism/homeostasis	326625	MMAB	OMIM:251110
HP:0001939	Abnormality of metabolism/homeostasis	151516	ASPRV1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	242	ALOX12B	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	126410	CYP4F22	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	6820	SULT2B1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	643418	LIPN	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	348938	NIPAL4	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	121214	SDR9C7	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	7051	TGM1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	2074	ERCC6	OMIM:214150
HP:0001939	Abnormality of metabolism/homeostasis	189	AGXT	OMIM:259900
HP:0001939	Abnormality of metabolism/homeostasis	773	CACNA1A	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	6507	SLC1A3	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	477	ATP1A2	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	478	ATP1A3	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	166785	MMAA	OMIM:251100
HP:0001939	Abnormality of metabolism/homeostasis	190	NR0B1	OMIM:300200
HP:0001939	Abnormality of metabolism/homeostasis	6340	SCNN1G	ORPHA:171876
HP:0001939	Abnormality of metabolism/homeostasis	6340	SCNN1G	OMIM:620126
HP:0001939	Abnormality of metabolism/homeostasis	4306	NR3C2	OMIM:177735
HP:0001939	Abnormality of metabolism/homeostasis	28957	MRPS28	OMIM:618958
HP:0001939	Abnormality of metabolism/homeostasis	1027	CDKN1B	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1026	CDKN1A	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1030	CDKN2B	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1031	CDKN2C	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	6524	SLC5A2	ORPHA:69076
HP:0001939	Abnormality of metabolism/homeostasis	55898	UNC45A	OMIM:619377
HP:0001939	Abnormality of metabolism/homeostasis	9451	EIF2AK3	ORPHA:1667
HP:0001939	Abnormality of metabolism/homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0001939	Abnormality of metabolism/homeostasis	204	AK2	ORPHA:33355
HP:0001939	Abnormality of metabolism/homeostasis	27034	ACAD8	ORPHA:79159
HP:0001939	Abnormality of metabolism/homeostasis	6929	TCF3	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	973	CD79A	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	974	CD79B	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3543	IGLL1	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3507	IGHM	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	29760	BLNK	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	56262	LRRC8A	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:397
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:29207
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:36426
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:3287
HP:0001939	Abnormality of metabolism/homeostasis	8974	P4HA2	ORPHA:397
HP:0001939	Abnormality of metabolism/homeostasis	144811	LACC1	ORPHA:85414
HP:0001939	Abnormality of metabolism/homeostasis	171023	ASXL1	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	3815	KIT	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	6427	SRSF2	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	ORPHA:131
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	4352	MPL	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	4352	MPL	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	ORPHA:131
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	2038	EPB42	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	6521	SLC4A1	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	6710	SPTB	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	6710	SPTB	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	6708	SPTA1	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	6708	SPTA1	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	286	ANK1	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	249	ALPL	OMIM:241500
HP:0001939	Abnormality of metabolism/homeostasis	939	CD27	OMIM:615122
HP:0001939	Abnormality of metabolism/homeostasis	84936	ZFYVE19	OMIM:619849
HP:0001939	Abnormality of metabolism/homeostasis	1536	CYBB	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	1536	CYBB	OMIM:306400
HP:0001939	Abnormality of metabolism/homeostasis	4688	NCF2	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	1535	CYBA	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	4689	NCF4	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	79415	CYBC1	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	79415	CYBC1	OMIM:618935
HP:0001939	Abnormality of metabolism/homeostasis	6772	STAT1	OMIM:614162
HP:0001939	Abnormality of metabolism/homeostasis	5699	PSMB10	OMIM:619175
HP:0001939	Abnormality of metabolism/homeostasis	1777	DNASE2	OMIM:619858
HP:0001939	Abnormality of metabolism/homeostasis	5621	PRNP	OMIM:600072
HP:0001939	Abnormality of metabolism/homeostasis	2035	EPB41	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	2995	GYPC	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	1130	LYST	ORPHA:167
HP:0001939	Abnormality of metabolism/homeostasis	23400	ATP13A2	ORPHA:306674
HP:0001939	Abnormality of metabolism/homeostasis	58484	NLRC4	OMIM:616115
HP:0001939	Abnormality of metabolism/homeostasis	58484	NLRC4	OMIM:616050
HP:0001939	Abnormality of metabolism/homeostasis	1244	ABCC2	ORPHA:234
HP:0001939	Abnormality of metabolism/homeostasis	595	CCND1	ORPHA:52416
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:52416
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	330	BIRC3	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	10892	MALT1	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	8915	BCL10	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	7454	WAS	ORPHA:906
HP:0001939	Abnormality of metabolism/homeostasis	7456	WIPF1	ORPHA:906
HP:0001939	Abnormality of metabolism/homeostasis	2624	GATA2	ORPHA:3226
HP:0001939	Abnormality of metabolism/homeostasis	51284	TLR7	OMIM:301080
HP:0001939	Abnormality of metabolism/homeostasis	11330	CTRC	OMIM:167800
HP:0001939	Abnormality of metabolism/homeostasis	6690	SPINK1	OMIM:167800
HP:0001939	Abnormality of metabolism/homeostasis	5645	PRSS2	OMIM:167800
HP:0001939	Abnormality of metabolism/homeostasis	5644	PRSS1	OMIM:167800
HP:0001939	Abnormality of metabolism/homeostasis	4210	MEFV	ORPHA:342
HP:0001939	Abnormality of metabolism/homeostasis	4210	MEFV	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	5551	PRF1	OMIM:603553
HP:0001939	Abnormality of metabolism/homeostasis	5551	PRF1	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	3575	IL7R	ORPHA:169154
HP:0001939	Abnormality of metabolism/homeostasis	3575	IL7R	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	8676	STX11	OMIM:603552
HP:0001939	Abnormality of metabolism/homeostasis	8676	STX11	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	359	AQP2	ORPHA:223
HP:0001939	Abnormality of metabolism/homeostasis	64135	IFIH1	OMIM:615846
HP:0001939	Abnormality of metabolism/homeostasis	3662	IRF4	ORPHA:3452
HP:0001939	Abnormality of metabolism/homeostasis	695	BTK	ORPHA:47
HP:0001939	Abnormality of metabolism/homeostasis	5373	PMM2	ORPHA:79318
HP:0001939	Abnormality of metabolism/homeostasis	2153	F5	ORPHA:131
HP:0001939	Abnormality of metabolism/homeostasis	6583	SLC22A4	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	4261	CIITA	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	51744	CD244	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	4795	NFKBIL1	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	3586	IL10	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	3586	IL10	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	64127	NOD2	ORPHA:90340
HP:0001939	Abnormality of metabolism/homeostasis	1967	EIF2B1	OMIM:603896
HP:0001939	Abnormality of metabolism/homeostasis	10312	TCIRG1	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	2672	GFI1	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	226	ALDOA	ORPHA:57
HP:0001939	Abnormality of metabolism/homeostasis	2000	ELF4	OMIM:301074
HP:0001939	Abnormality of metabolism/homeostasis	667	DST	OMIM:614653
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	OMIM:614893
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	OMIM:226990
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	ORPHA:319600
HP:0001939	Abnormality of metabolism/homeostasis	3075	CFH	OMIM:235400
HP:0001939	Abnormality of metabolism/homeostasis	3078	CFHR1	OMIM:235400
HP:0001939	Abnormality of metabolism/homeostasis	10878	CFHR3	OMIM:235400
HP:0001939	Abnormality of metabolism/homeostasis	149233	IL23R	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	1230	CCR1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	355	FAS	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3592	IL12A	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	101928376	IL12A-AS1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	7099	TLR4	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3459	IFNGR1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3459	IFNGR1	OMIM:209950
HP:0001939	Abnormality of metabolism/homeostasis	720	C4A	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	337867	UBAC2	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	51752	ERAP1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	8302	KLRC4	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	7187	TRAF3	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	81622	UNC93B1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	148022	TICAM1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	7098	TLR3	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	29110	TBK1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	201294	UNC13D	OMIM:608898
HP:0001939	Abnormality of metabolism/homeostasis	201294	UNC13D	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	55388	MCM10	OMIM:619313
HP:0001939	Abnormality of metabolism/homeostasis	331	XIAP	OMIM:300635
HP:0001939	Abnormality of metabolism/homeostasis	3932	LCK	OMIM:615758
HP:0001939	Abnormality of metabolism/homeostasis	3875	KRT18	OMIM:215600
HP:0001939	Abnormality of metabolism/homeostasis	596	BCL2	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	604	BCL6	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	7157	TP53	ORPHA:668
HP:0001939	Abnormality of metabolism/homeostasis	5925	RB1	ORPHA:668
HP:0001939	Abnormality of metabolism/homeostasis	11200	CHEK2	ORPHA:668
HP:0001939	Abnormality of metabolism/homeostasis	6813	STXBP2	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	6813	STXBP2	OMIM:613101
HP:0001939	Abnormality of metabolism/homeostasis	55315	SLC29A3	OMIM:602782
HP:0001939	Abnormality of metabolism/homeostasis	3350	HTR1A	OMIM:614674
HP:0001939	Abnormality of metabolism/homeostasis	672	BRCA1	ORPHA:70567
HP:0001939	Abnormality of metabolism/homeostasis	675	BRCA2	ORPHA:70567
HP:0001939	Abnormality of metabolism/homeostasis	675	BRCA2	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	5774	PTPN3	ORPHA:70567
HP:0001939	Abnormality of metabolism/homeostasis	11093	ADAMTS13	OMIM:274150
HP:0001939	Abnormality of metabolism/homeostasis	7248	TSC1	ORPHA:538
HP:0001939	Abnormality of metabolism/homeostasis	7249	TSC2	ORPHA:538
HP:0001939	Abnormality of metabolism/homeostasis	3930	LBR	ORPHA:779
HP:0001939	Abnormality of metabolism/homeostasis	5978	REST	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	9319	TRIP13	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	10155	TRIM28	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	11281	POU6F2	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	9663	LPIN2	ORPHA:77297
HP:0001939	Abnormality of metabolism/homeostasis	915	CD3D	ORPHA:169160
HP:0001939	Abnormality of metabolism/homeostasis	916	CD3E	ORPHA:169160
HP:0001939	Abnormality of metabolism/homeostasis	919	CD247	ORPHA:169160
HP:0001939	Abnormality of metabolism/homeostasis	10320	IKZF1	ORPHA:36426
HP:0001939	Abnormality of metabolism/homeostasis	10588	MTHFS	OMIM:618367
HP:0001939	Abnormality of metabolism/homeostasis	26525	IL36RN	OMIM:614204
HP:0001939	Abnormality of metabolism/homeostasis	5903	RANBP2	ORPHA:88619
HP:0001939	Abnormality of metabolism/homeostasis	3977	LIFR	OMIM:601559
HP:0001939	Abnormality of metabolism/homeostasis	1380	CR2	OMIM:614699
HP:0001939	Abnormality of metabolism/homeostasis	5873	RAB27A	ORPHA:79477
HP:0001939	Abnormality of metabolism/homeostasis	5873	RAB27A	OMIM:607624
HP:0001939	Abnormality of metabolism/homeostasis	368	ABCC6	ORPHA:51608
HP:0001939	Abnormality of metabolism/homeostasis	10019	SH2B3	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	2548	GAA	OMIM:232300
HP:0001939	Abnormality of metabolism/homeostasis	6023	RMRP	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	55636	CHD7	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	64421	DCLRE1C	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	100	ADA	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	3561	IL2RG	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	60468	BACH2	OMIM:618394
HP:0001939	Abnormality of metabolism/homeostasis	5788	PTPRC	OMIM:619924
HP:0001939	Abnormality of metabolism/homeostasis	51816	ADA2	OMIM:615688
HP:0001939	Abnormality of metabolism/homeostasis	1277	COL1A1	ORPHA:1310
HP:0001939	Abnormality of metabolism/homeostasis	1277	COL1A1	OMIM:114000
HP:0001939	Abnormality of metabolism/homeostasis	5294	PIK3CG	OMIM:619802
HP:0001939	Abnormality of metabolism/homeostasis	551	AVP	ORPHA:30925
HP:0001939	Abnormality of metabolism/homeostasis	3458	IFNG	OMIM:618963
HP:0001939	Abnormality of metabolism/homeostasis	3593	IL12B	ORPHA:3287
HP:0001939	Abnormality of metabolism/homeostasis	6945	MLX	ORPHA:3287
HP:0001939	Abnormality of metabolism/homeostasis	57410	SCYL1	ORPHA:466794
HP:0001939	Abnormality of metabolism/homeostasis	613	BCR	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	25	ABL1	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	861	RUNX1	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	5371	PML	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	5914	RARA	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	359948	IRF2BP2	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	81608	FIP1L1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	4869	NPM1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	54880	BCOR	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	64859	NABP1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	6777	STAT5B	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	4926	NUMA1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	7704	ZBTB16	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	79718	TBL1XR1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	9051	PSTPIP1	ORPHA:69126
HP:0001939	Abnormality of metabolism/homeostasis	56652	TWNK	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	11232	POLG2	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	2998	GYS2	OMIM:240600
HP:0001939	Abnormality of metabolism/homeostasis	2998	GYS2	ORPHA:2089
HP:0001939	Abnormality of metabolism/homeostasis	51728	POLR3K	OMIM:619310
HP:0001939	Abnormality of metabolism/homeostasis	1374	CPT1A	ORPHA:156
HP:0001939	Abnormality of metabolism/homeostasis	1374	CPT1A	OMIM:255120
HP:0001939	Abnormality of metabolism/homeostasis	525	ATP6V1B1	OMIM:267300
HP:0001939	Abnormality of metabolism/homeostasis	57551	TAOK1	OMIM:619575
HP:0001939	Abnormality of metabolism/homeostasis	57107	PDSS2	ORPHA:255249
HP:0001939	Abnormality of metabolism/homeostasis	27235	COQ2	ORPHA:255249
HP:0001939	Abnormality of metabolism/homeostasis	5257	PHKB	ORPHA:79240
HP:0001939	Abnormality of metabolism/homeostasis	4853	NOTCH2	OMIM:610205
HP:0001939	Abnormality of metabolism/homeostasis	790	CAD	OMIM:616457
HP:0001939	Abnormality of metabolism/homeostasis	182	JAG1	OMIM:118450
HP:0001939	Abnormality of metabolism/homeostasis	57724	EPG5	ORPHA:1493
HP:0001939	Abnormality of metabolism/homeostasis	9101	USP8	OMIM:219090
HP:0001939	Abnormality of metabolism/homeostasis	1811	SLC26A3	OMIM:214700
HP:0001939	Abnormality of metabolism/homeostasis	1586	CYP17A1	OMIM:202110
HP:0001939	Abnormality of metabolism/homeostasis	10166	SLC25A15	ORPHA:415
HP:0001939	Abnormality of metabolism/homeostasis	10269	ZMPSTE24	OMIM:608612
HP:0001939	Abnormality of metabolism/homeostasis	286053	NSMCE2	OMIM:617253
HP:0001939	Abnormality of metabolism/homeostasis	64324	NSD1	OMIM:117550
HP:0001939	Abnormality of metabolism/homeostasis	212	ALAS2	ORPHA:75563
HP:0001939	Abnormality of metabolism/homeostasis	2099	ESR1	ORPHA:785
HP:0001939	Abnormality of metabolism/homeostasis	2099	ESR1	OMIM:615363
HP:0001939	Abnormality of metabolism/homeostasis	857	CAV1	OMIM:606721
HP:0001939	Abnormality of metabolism/homeostasis	26137	ZBTB20	OMIM:259050
HP:0001939	Abnormality of metabolism/homeostasis	10651	MTX2	OMIM:619127
HP:0001939	Abnormality of metabolism/homeostasis	79798	ARMC5	ORPHA:189427
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	ORPHA:189427
HP:0001939	Abnormality of metabolism/homeostasis	57570	TRMT5	OMIM:616539
HP:0001939	Abnormality of metabolism/homeostasis	30061	SLC40A1	OMIM:606069
HP:0001939	Abnormality of metabolism/homeostasis	650	BMP2	OMIM:235200
HP:0001939	Abnormality of metabolism/homeostasis	26060	APPL1	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	640	BLK	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	1056	CEL	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	63924	CIDEC	OMIM:615238
HP:0001939	Abnormality of metabolism/homeostasis	970	CD70	OMIM:618261
HP:0001939	Abnormality of metabolism/homeostasis	30011	SH3KBP1	OMIM:300310
HP:0001939	Abnormality of metabolism/homeostasis	90268	OTULIN	OMIM:617099
HP:0001939	Abnormality of metabolism/homeostasis	8367	H4C5	OMIM:619950
HP:0001939	Abnormality of metabolism/homeostasis	1053	CEBPE	OMIM:260570
HP:0001939	Abnormality of metabolism/homeostasis	3043	HBB	ORPHA:231214
HP:0001939	Abnormality of metabolism/homeostasis	3043	HBB	ORPHA:231226
HP:0001939	Abnormality of metabolism/homeostasis	3702	ITK	OMIM:613011
HP:0001939	Abnormality of metabolism/homeostasis	85446	ZFHX2	OMIM:147430
HP:0001939	Abnormality of metabolism/homeostasis	5190	PEX6	OMIM:614863
HP:0001939	Abnormality of metabolism/homeostasis	5580	PRKCD	OMIM:615559
HP:0001939	Abnormality of metabolism/homeostasis	4803	NGF	OMIM:608654
HP:0001939	Abnormality of metabolism/homeostasis	718	C3	OMIM:613779
HP:0001939	Abnormality of metabolism/homeostasis	7317	UBA1	OMIM:301054
HP:0001939	Abnormality of metabolism/homeostasis	57169	ZNFX1	OMIM:619644
HP:0001939	Abnormality of metabolism/homeostasis	9948	WDR1	OMIM:150550
HP:0001939	Abnormality of metabolism/homeostasis	22861	NLRP1	OMIM:617388
HP:0001939	Abnormality of metabolism/homeostasis	91662	NLRP12	OMIM:611762
HP:0001939	Abnormality of metabolism/homeostasis	5376	PMP22	ORPHA:98916
HP:0001939	Abnormality of metabolism/homeostasis	4068	SH2D1A	OMIM:308240
HP:0001939	Abnormality of metabolism/homeostasis	55739	NAXD	OMIM:618321
HP:0001939	Abnormality of metabolism/homeostasis	10134	BCAP31	ORPHA:369939
HP:0001939	Abnormality of metabolism/homeostasis	7128	TNFAIP3	OMIM:616744
HP:0001939	Abnormality of metabolism/homeostasis	6786	STIM1	OMIM:612783
HP:0001939	Abnormality of metabolism/homeostasis	340061	STING1	OMIM:615934
HP:0001939	Abnormality of metabolism/homeostasis	56984	PSMG2	OMIM:619183
HP:0001939	Abnormality of metabolism/homeostasis	6850	SYK	OMIM:619381
HP:0001939	Abnormality of metabolism/homeostasis	5860	QDPR	OMIM:261630
HP:0001939	Abnormality of metabolism/homeostasis	205327	C2orf69	OMIM:619423
HP:0001939	Abnormality of metabolism/homeostasis	8737	RIPK1	OMIM:618852
HP:0001939	Abnormality of metabolism/homeostasis	254428	SLC41A1	OMIM:619468
HP:0001939	Abnormality of metabolism/homeostasis	341208	HEPHL1	OMIM:261990
HP:0001939	Abnormality of metabolism/homeostasis	5696	PSMB8	OMIM:256040
HP:0001939	Abnormality of metabolism/homeostasis	165918	RNF168	ORPHA:420741
HP:0001939	Abnormality of metabolism/homeostasis	80216	ALPK1	OMIM:614979
HP:0001939	Abnormality of metabolism/homeostasis	55858	TMEM165	OMIM:614727
HP:0001939	Abnormality of metabolism/homeostasis	10535	RNASEH2A	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	84153	RNASEH2C	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	25939	SAMHD1	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	79621	RNASEH2B	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	103	ADAR	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	100147744	RNU7-1	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	134353	LSM11	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	54675	CRLS1	OMIM:620167
HP:0001939	Abnormality of metabolism/homeostasis	7080	NKX2-1	ORPHA:209905
HP:0001939	Abnormality of metabolism/homeostasis	8516	ITGA8	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	26281	FGF20	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	2674	GFRA1	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	7484	WNT9B	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	80000	GREB1L	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	7528	YY1	ORPHA:97279
HP:0001939	Abnormality of metabolism/homeostasis	3032	HADHB	ORPHA:746
HP:0001939	Abnormality of metabolism/homeostasis	22845	DOLK	OMIM:610768
HP:0001939	Abnormality of metabolism/homeostasis	60561	RINT1	OMIM:618641
HP:0001939	Abnormality of metabolism/homeostasis	284439	SLC25A42	OMIM:618416
HP:0001939	Abnormality of metabolism/homeostasis	5162	PDHB	OMIM:614111
HP:0001939	Abnormality of metabolism/homeostasis	2806	GOT2	OMIM:618721
HP:0001939	Abnormality of metabolism/homeostasis	79587	CARS2	OMIM:616672
HP:0001939	Abnormality of metabolism/homeostasis	5058	PAK1	OMIM:618158
HP:0001939	Abnormality of metabolism/homeostasis	283209	PGM2L1	OMIM:620191
HP:0001939	Abnormality of metabolism/homeostasis	80308	FLAD1	OMIM:255100
HP:0001939	Abnormality of metabolism/homeostasis	79581	SLC52A2	OMIM:614707
HP:0001939	Abnormality of metabolism/homeostasis	79783	SUGCT	ORPHA:35706
HP:0001939	Abnormality of metabolism/homeostasis	3710	ITPR3	OMIM:222100
HP:0001939	Abnormality of metabolism/homeostasis	9095	TBX19	ORPHA:199296
HP:0001939	Abnormality of metabolism/homeostasis	8925	HERC1	ORPHA:457359
HP:0001939	Abnormality of metabolism/homeostasis	10984	KCNQ1OT1	OMIM:130650
HP:0001939	Abnormality of metabolism/homeostasis	3784	KCNQ1	OMIM:130650
HP:0001939	Abnormality of metabolism/homeostasis	29072	SETD2	ORPHA:821
HP:0001939	Abnormality of metabolism/homeostasis	10297	APC2	ORPHA:821
HP:0001939	Abnormality of metabolism/homeostasis	10943	MSL3	OMIM:301032
HP:0001939	Abnormality of metabolism/homeostasis	8567	MADD	OMIM:619004
HP:0001939	Abnormality of metabolism/homeostasis	7403	KDM6A	OMIM:300867
HP:0001939	Abnormality of metabolism/homeostasis	10682	EBP	ORPHA:35173
HP:0001939	Abnormality of metabolism/homeostasis	23152	CIC	OMIM:617600
HP:0001939	Abnormality of metabolism/homeostasis	7259	TSPYL1	ORPHA:168593
HP:0001939	Abnormality of metabolism/homeostasis	7259	TSPYL1	OMIM:608800
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	ORPHA:198
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	OMIM:309400
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	ORPHA:565
HP:0001939	Abnormality of metabolism/homeostasis	775	CACNA1C	OMIM:601005
HP:0001939	Abnormality of metabolism/homeostasis	6335	SCN9A	ORPHA:90026
HP:0001939	Abnormality of metabolism/homeostasis	11280	SCN11A	ORPHA:90026
HP:0001939	Abnormality of metabolism/homeostasis	6336	SCN10A	ORPHA:90026
HP:0001939	Abnormality of metabolism/homeostasis	388753	COA6	OMIM:616501
HP:0001939	Abnormality of metabolism/homeostasis	25974	MMACHC	ORPHA:79282
HP:0001939	Abnormality of metabolism/homeostasis	36	ACADSB	OMIM:610006
HP:0001939	Abnormality of metabolism/homeostasis	1716	DGUOK	OMIM:251880
HP:0001939	Abnormality of metabolism/homeostasis	37	ACADVL	ORPHA:26793
HP:0001939	Abnormality of metabolism/homeostasis	4914	NTRK1	ORPHA:642
HP:0001939	Abnormality of metabolism/homeostasis	7849	PAX8	OMIM:218700
HP:0001939	Abnormality of metabolism/homeostasis	7386	UQCRFS1	OMIM:618775
HP:0001939	Abnormality of metabolism/homeostasis	54681	P4HTM	OMIM:618493
HP:0001939	Abnormality of metabolism/homeostasis	55065	SLC52A1	OMIM:615026
HP:0001939	Abnormality of metabolism/homeostasis	221927	BRAT1	OMIM:614498
HP:0001939	Abnormality of metabolism/homeostasis	93627	TBCK	ORPHA:488632
HP:0001939	Abnormality of metabolism/homeostasis	2555	GABRA2	OMIM:618557
HP:0001939	Abnormality of metabolism/homeostasis	788	SLC25A20	ORPHA:159
HP:0001939	Abnormality of metabolism/homeostasis	56244	BTNL2	ORPHA:797
HP:0001939	Abnormality of metabolism/homeostasis	3123	HLA-DRB1	ORPHA:797
HP:0001939	Abnormality of metabolism/homeostasis	7253	TSHR	ORPHA:90673
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:98794
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:98795
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:411511
HP:0001939	Abnormality of metabolism/homeostasis	4948	OCA2	ORPHA:98794
HP:0001939	Abnormality of metabolism/homeostasis	3939	LDHA	ORPHA:284426
HP:0001939	Abnormality of metabolism/homeostasis	1896	EDA	OMIM:305100
HP:0001939	Abnormality of metabolism/homeostasis	1896	EDA	OMIM:313500
HP:0001939	Abnormality of metabolism/homeostasis	9071	CLDN10	OMIM:617671
HP:0001939	Abnormality of metabolism/homeostasis	51360	MBTPS2	ORPHA:2273
HP:0001939	Abnormality of metabolism/homeostasis	84876	ORAI1	OMIM:612782
HP:0001939	Abnormality of metabolism/homeostasis	81607	NECTIN4	OMIM:613573
HP:0001939	Abnormality of metabolism/homeostasis	5604	MAP2K1	OMIM:615279
HP:0001939	Abnormality of metabolism/homeostasis	56983	POGLUT1	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3852	KRT5	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3852	KRT5	ORPHA:79400
HP:0001939	Abnormality of metabolism/homeostasis	23509	POFUT1	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	55851	PSENEN	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	ORPHA:79400
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	OMIM:161000
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	ORPHA:69087
HP:0001939	Abnormality of metabolism/homeostasis	3190	HNRNPK	ORPHA:352665
HP:0001939	Abnormality of metabolism/homeostasis	3190	HNRNPK	ORPHA:453504
HP:0001939	Abnormality of metabolism/homeostasis	3709	ITPR2	OMIM:106190
HP:0001939	Abnormality of metabolism/homeostasis	59344	ALOXE3	OMIM:606545
HP:0001939	Abnormality of metabolism/homeostasis	5605	MAP2K2	OMIM:615280
HP:0001939	Abnormality of metabolism/homeostasis	10660	LBX1	OMIM:619483
HP:0001939	Abnormality of metabolism/homeostasis	4792	NFKBIA	OMIM:612132
HP:0001939	Abnormality of metabolism/homeostasis	487	ATP2A1	OMIM:601003
HP:0001939	Abnormality of metabolism/homeostasis	4621	MYH3	ORPHA:2053
HP:0001939	Abnormality of metabolism/homeostasis	4621	MYH3	OMIM:193700
HP:0001939	Abnormality of metabolism/homeostasis	259232	NALCN	ORPHA:2053
HP:0001939	Abnormality of metabolism/homeostasis	8518	ELP1	ORPHA:1764
HP:0001939	Abnormality of metabolism/homeostasis	5236	PGM1	OMIM:614921
HP:0001939	Abnormality of metabolism/homeostasis	3339	HSPG2	OMIM:255800
HP:0001939	Abnormality of metabolism/homeostasis	3339	HSPG2	ORPHA:800
HP:0001939	Abnormality of metabolism/homeostasis	6331	SCN5A	OMIM:272120
HP:0001939	Abnormality of metabolism/homeostasis	246329	STAC3	ORPHA:168572
HP:0001939	Abnormality of metabolism/homeostasis	246329	STAC3	OMIM:255995
HP:0001939	Abnormality of metabolism/homeostasis	274	BIN1	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	64419	MTMR14	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	4618	MYF6	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	1785	DNM2	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	23529	CLCF1	ORPHA:1545
HP:0001939	Abnormality of metabolism/homeostasis	9244	CRLF1	ORPHA:1545
HP:0001939	Abnormality of metabolism/homeostasis	83696	TRAPPC9	ORPHA:352530
HP:0001939	Abnormality of metabolism/homeostasis	1146	CHRNG	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	1144	CHRND	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	1134	CHRNA1	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	26154	ABCA12	ORPHA:457
HP:0001939	Abnormality of metabolism/homeostasis	7189	TRAF6	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	128178	EDARADD	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	126695	KDF1	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	10913	EDAR	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	2625	GATA3	OMIM:146255
HP:0001939	Abnormality of metabolism/homeostasis	8671	SLC4A4	OMIM:604278
HP:0001939	Abnormality of metabolism/homeostasis	760	CA2	ORPHA:2785
HP:0001939	Abnormality of metabolism/homeostasis	1576	CYP3A4	OMIM:619073
HP:0001939	Abnormality of metabolism/homeostasis	5251	PHEX	ORPHA:89936
HP:0001939	Abnormality of metabolism/homeostasis	5251	PHEX	OMIM:307800
HP:0001939	Abnormality of metabolism/homeostasis	1594	CYP27B1	ORPHA:289157
HP:0001939	Abnormality of metabolism/homeostasis	1594	CYP27B1	OMIM:264700
HP:0001939	Abnormality of metabolism/homeostasis	120227	CYP2R1	ORPHA:289157
HP:0001939	Abnormality of metabolism/homeostasis	120227	CYP2R1	OMIM:600081
HP:0001939	Abnormality of metabolism/homeostasis	9368	NHERF1	OMIM:612287
HP:0001939	Abnormality of metabolism/homeostasis	3636	INPPL1	OMIM:258480
HP:0001939	Abnormality of metabolism/homeostasis	56975	FAM20C	OMIM:259775
HP:0001939	Abnormality of metabolism/homeostasis	1175	AP2S1	OMIM:600740
HP:0001939	Abnormality of metabolism/homeostasis	3251	HPRT1	ORPHA:510
HP:0001939	Abnormality of metabolism/homeostasis	3251	HPRT1	OMIM:300322
HP:0001939	Abnormality of metabolism/homeostasis	3251	HPRT1	OMIM:300323
HP:0001939	Abnormality of metabolism/homeostasis	3251	HPRT1	ORPHA:79233
HP:0001939	Abnormality of metabolism/homeostasis	25970	SH2B1	ORPHA:261222
HP:0001939	Abnormality of metabolism/homeostasis	5972	REN	OMIM:613092
HP:0001939	Abnormality of metabolism/homeostasis	29927	SEC61A1	OMIM:617056
HP:0001939	Abnormality of metabolism/homeostasis	4609	MYC	ORPHA:543
HP:0001939	Abnormality of metabolism/homeostasis	3998	LMAN1	ORPHA:35909
HP:0001939	Abnormality of metabolism/homeostasis	90411	MCFD2	ORPHA:35909
HP:0001939	Abnormality of metabolism/homeostasis	7369	UMOD	OMIM:162000
HP:0001939	Abnormality of metabolism/homeostasis	4582	MUC1	OMIM:174000
HP:0001939	Abnormality of metabolism/homeostasis	9949	AMMECR1	OMIM:300990
HP:0001939	Abnormality of metabolism/homeostasis	56606	SLC2A9	ORPHA:94088
HP:0001939	Abnormality of metabolism/homeostasis	116085	SLC22A12	ORPHA:94088
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:143
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:99880
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:99879
HP:0001939	Abnormality of metabolism/homeostasis	10916	MAGED2	OMIM:300971
HP:0001939	Abnormality of metabolism/homeostasis	4982	TNFRSF11B	OMIM:239000
HP:0001939	Abnormality of metabolism/homeostasis	79717	PPCS	OMIM:618189
HP:0001939	Abnormality of metabolism/homeostasis	5917	RARS1	ORPHA:438114
HP:0001939	Abnormality of metabolism/homeostasis	271	AMPD2	OMIM:615809
HP:0001939	Abnormality of metabolism/homeostasis	1020	CDK5	OMIM:616342
HP:0001939	Abnormality of metabolism/homeostasis	4571	MT-TP	OMIM:545000
HP:0001939	Abnormality of metabolism/homeostasis	4565	MT-TI	OMIM:545000
HP:0001939	Abnormality of metabolism/homeostasis	39	ACAT2	OMIM:614055
HP:0001939	Abnormality of metabolism/homeostasis	246243	RNASEH1	OMIM:616479
HP:0001939	Abnormality of metabolism/homeostasis	51021	MRPS16	OMIM:610498
HP:0001939	Abnormality of metabolism/homeostasis	27089	UQCRQ	OMIM:615159
HP:0001939	Abnormality of metabolism/homeostasis	1593	CYP27A1	ORPHA:909
HP:0001939	Abnormality of metabolism/homeostasis	55210	ATAD3A	ORPHA:496790
HP:0001939	Abnormality of metabolism/homeostasis	55210	ATAD3A	OMIM:618810
HP:0001939	Abnormality of metabolism/homeostasis	55210	ATAD3A	OMIM:617183
HP:0001939	Abnormality of metabolism/homeostasis	10531	PITRM1	OMIM:619405
HP:0001939	Abnormality of metabolism/homeostasis	270	AMPD1	ORPHA:45
HP:0001939	Abnormality of metabolism/homeostasis	272	AMPD3	ORPHA:45
HP:0001939	Abnormality of metabolism/homeostasis	1384	CRAT	OMIM:617917
HP:0001939	Abnormality of metabolism/homeostasis	91574	MTRFR	OMIM:613559
HP:0001939	Abnormality of metabolism/homeostasis	3954	LETM1	OMIM:620089
HP:0001939	Abnormality of metabolism/homeostasis	51117	COQ4	OMIM:616276
HP:0001939	Abnormality of metabolism/homeostasis	3329	HSPD1	OMIM:612233
HP:0001939	Abnormality of metabolism/homeostasis	6647	SOD1	OMIM:618598
HP:0001939	Abnormality of metabolism/homeostasis	8867	SYNJ1	OMIM:617389
HP:0001939	Abnormality of metabolism/homeostasis	8492	PRSS12	OMIM:249500
HP:0001939	Abnormality of metabolism/homeostasis	9512	PMPCB	OMIM:617954
HP:0001939	Abnormality of metabolism/homeostasis	708	C1QBP	OMIM:617713
HP:0001939	Abnormality of metabolism/homeostasis	55750	AGK	OMIM:212350
HP:0001939	Abnormality of metabolism/homeostasis	8604	SLC25A12	OMIM:612949
HP:0001939	Abnormality of metabolism/homeostasis	112812	FDX2	OMIM:251900
HP:0001939	Abnormality of metabolism/homeostasis	84705	GTPBP3	OMIM:616198
HP:0001939	Abnormality of metabolism/homeostasis	11019	LIAS	OMIM:614462
HP:0001939	Abnormality of metabolism/homeostasis	81689	ISCA1	OMIM:617613
HP:0001939	Abnormality of metabolism/homeostasis	6182	MRPL12	OMIM:618951
HP:0001939	Abnormality of metabolism/homeostasis	63899	NSUN3	OMIM:619012
HP:0001939	Abnormality of metabolism/homeostasis	119559	SFXN4	OMIM:615578
HP:0001939	Abnormality of metabolism/homeostasis	1468	SLC25A10	OMIM:618972
HP:0001939	Abnormality of metabolism/homeostasis	29928	TIMM22	OMIM:618851
HP:0001939	Abnormality of metabolism/homeostasis	115286	SLC25A26	OMIM:616794
HP:0001939	Abnormality of metabolism/homeostasis	22868	FASTKD2	OMIM:618855
HP:0001939	Abnormality of metabolism/homeostasis	50640	PNPLA8	OMIM:251950
HP:0001939	Abnormality of metabolism/homeostasis	10058	ABCB6	ORPHA:90044
HP:0001939	Abnormality of metabolism/homeostasis	10058	ABCB6	OMIM:609153
HP:0001939	Abnormality of metabolism/homeostasis	6522	SLC4A2	OMIM:620366
HP:0001939	Abnormality of metabolism/homeostasis	65266	WNK4	OMIM:614491
HP:0001939	Abnormality of metabolism/homeostasis	26249	KLHL3	OMIM:614495
HP:0001939	Abnormality of metabolism/homeostasis	2731	GLDC	OMIM:605899
HP:0001939	Abnormality of metabolism/homeostasis	275	AMT	OMIM:605899
HP:0001939	Abnormality of metabolism/homeostasis	348932	SLC6A18	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	153201	SLC36A2	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	54716	SLC6A20	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	340024	SLC6A19	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	388962	BOLA3	OMIM:614299
HP:0001939	Abnormality of metabolism/homeostasis	84699	CREB3L3	OMIM:619324
HP:0001939	Abnormality of metabolism/homeostasis	2314	FLII	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	23096	IQSEC2	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	10743	RAI1	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	10743	RAI1	OMIM:182290
HP:0001939	Abnormality of metabolism/homeostasis	10522	DEAF1	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	3952	LEP	ORPHA:66628
HP:0001939	Abnormality of metabolism/homeostasis	5346	PLIN1	OMIM:613877
HP:0001939	Abnormality of metabolism/homeostasis	5346	PLIN1	ORPHA:280356
HP:0001939	Abnormality of metabolism/homeostasis	284654	RSPO1	OMIM:610644
HP:0001939	Abnormality of metabolism/homeostasis	10555	AGPAT2	OMIM:608594
HP:0001939	Abnormality of metabolism/homeostasis	10555	AGPAT2	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	5424	POLD1	OMIM:615381
HP:0001939	Abnormality of metabolism/homeostasis	5283	PIGH	OMIM:618010
HP:0001939	Abnormality of metabolism/homeostasis	3953	LEPR	ORPHA:179494
HP:0001939	Abnormality of metabolism/homeostasis	165	AEBP1	ORPHA:536532
HP:0001939	Abnormality of metabolism/homeostasis	3991	LIPE	ORPHA:435660
HP:0001939	Abnormality of metabolism/homeostasis	2193	FARSA	OMIM:619013
HP:0001939	Abnormality of metabolism/homeostasis	284119	CAVIN1	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	284119	CAVIN1	OMIM:613327
HP:0001939	Abnormality of metabolism/homeostasis	2353	FOS	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	2010	EMD	ORPHA:98863
HP:0001939	Abnormality of metabolism/homeostasis	26119	LDLRAP1	OMIM:603813
HP:0001939	Abnormality of metabolism/homeostasis	109	ADCY3	OMIM:617885
HP:0001939	Abnormality of metabolism/homeostasis	79188	TMEM43	ORPHA:98853
HP:0001939	Abnormality of metabolism/homeostasis	23345	SYNE1	ORPHA:98853
HP:0001939	Abnormality of metabolism/homeostasis	23224	SYNE2	ORPHA:98853
HP:0001939	Abnormality of metabolism/homeostasis	444	ASPH	OMIM:601552
HP:0001939	Abnormality of metabolism/homeostasis	3054	HCFC1	OMIM:309541
HP:0001939	Abnormality of metabolism/homeostasis	875	CBS	OMIM:236200
HP:0001939	Abnormality of metabolism/homeostasis	5826	ABCD4	OMIM:614857
HP:0001939	Abnormality of metabolism/homeostasis	27249	MMADHC	OMIM:277410
HP:0001939	Abnormality of metabolism/homeostasis	8882	ZPR1	OMIM:619321
HP:0001939	Abnormality of metabolism/homeostasis	6448	SGSH	OMIM:252900
HP:0001939	Abnormality of metabolism/homeostasis	4669	NAGLU	OMIM:252920
HP:0001939	Abnormality of metabolism/homeostasis	2799	GNS	OMIM:252940
HP:0001939	Abnormality of metabolism/homeostasis	51293	CD320	OMIM:613646
HP:0001939	Abnormality of metabolism/homeostasis	5443	POMC	OMIM:609734
HP:0001939	Abnormality of metabolism/homeostasis	5443	POMC	ORPHA:71526
HP:0001939	Abnormality of metabolism/homeostasis	23126	POGZ	OMIM:616364
HP:0001939	Abnormality of metabolism/homeostasis	5122	PCSK1	ORPHA:71528
HP:0001939	Abnormality of metabolism/homeostasis	6611	SMS	ORPHA:3063
HP:0001939	Abnormality of metabolism/homeostasis	3785	KCNQ2	ORPHA:439218
HP:0001939	Abnormality of metabolism/homeostasis	51692	CPSF3	OMIM:619876
HP:0001939	Abnormality of metabolism/homeostasis	112476	PRRT2	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	6323	SCN1A	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	2294	FOXF1	OMIM:265380
HP:0001939	Abnormality of metabolism/homeostasis	6016	RIT1	OMIM:615355
HP:0001939	Abnormality of metabolism/homeostasis	84162	BLTP1	OMIM:617822
HP:0001939	Abnormality of metabolism/homeostasis	202018	TAPT1	OMIM:616897
HP:0001939	Abnormality of metabolism/homeostasis	3832	KIF11	ORPHA:2526
HP:0001939	Abnormality of metabolism/homeostasis	738	VPS51	OMIM:618606
HP:0001939	Abnormality of metabolism/homeostasis	9131	AIFM1	ORPHA:238329
HP:0001939	Abnormality of metabolism/homeostasis	9131	AIFM1	OMIM:300816
HP:0001939	Abnormality of metabolism/homeostasis	4702	NDUFA8	OMIM:619272
HP:0001939	Abnormality of metabolism/homeostasis	10128	LRPPRC	OMIM:220111
HP:0001939	Abnormality of metabolism/homeostasis	10128	LRPPRC	ORPHA:70472
HP:0001939	Abnormality of metabolism/homeostasis	9997	SCO2	OMIM:604377
HP:0001939	Abnormality of metabolism/homeostasis	9997	SCO2	ORPHA:70474
HP:0001939	Abnormality of metabolism/homeostasis	4558	MT-TF	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4572	MT-TQ	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4513	MT-CO2	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4575	MT-TS2	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4564	MT-TH	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	54539	NDUFB11	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	25915	NDUFAF3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	25915	NDUFAF3	ORPHA:70474
HP:0001939	Abnormality of metabolism/homeostasis	25915	NDUFAF3	OMIM:618240
HP:0001939	Abnormality of metabolism/homeostasis	51103	NDUFAF1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	91942	NDUFAF2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	91942	NDUFAF2	OMIM:618233
HP:0001939	Abnormality of metabolism/homeostasis	91942	NDUFAF2	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4723	NDUFV1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4723	NDUFV1	OMIM:618225
HP:0001939	Abnormality of metabolism/homeostasis	4723	NDUFV1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	55572	FOXRED1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	55572	FOXRED1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	284184	NDUFAF8	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4729	NDUFV2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4729	NDUFV2	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4694	NDUFA1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4720	NDUFS2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4720	NDUFS2	ORPHA:70474
HP:0001939	Abnormality of metabolism/homeostasis	4720	NDUFS2	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4726	NDUFS6	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4728	NDUFS8	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4728	NDUFS8	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4722	NDUFS3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4722	NDUFS3	OMIM:618230
HP:0001939	Abnormality of metabolism/homeostasis	4722	NDUFS3	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	79133	NDUFAF5	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	79133	NDUFAF5	OMIM:618238
HP:0001939	Abnormality of metabolism/homeostasis	79133	NDUFAF5	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	126328	NDUFA11	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4709	NDUFB3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	80224	NUBPL	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	80224	NUBPL	OMIM:618242
HP:0001939	Abnormality of metabolism/homeostasis	29078	NDUFAF4	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	374291	NDUFS7	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	374291	NDUFS7	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4700	NDUFA6	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4700	NDUFA6	OMIM:618253
HP:0001939	Abnormality of metabolism/homeostasis	4719	NDUFS1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4719	NDUFS1	OMIM:618226
HP:0001939	Abnormality of metabolism/homeostasis	4719	NDUFS1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4715	NDUFB9	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	57128	LYRM4	OMIM:615595
HP:0001939	Abnormality of metabolism/homeostasis	64849	SLC13A3	OMIM:618384
HP:0001939	Abnormality of metabolism/homeostasis	6513	SLC2A1	OMIM:612126
HP:0001939	Abnormality of metabolism/homeostasis	85476	GFM1	OMIM:609060
HP:0001939	Abnormality of metabolism/homeostasis	123263	MTFMT	OMIM:614947
HP:0001939	Abnormality of metabolism/homeostasis	123263	MTFMT	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4714	NDUFB8	ORPHA:70474
HP:0001939	Abnormality of metabolism/homeostasis	4714	NDUFB8	OMIM:618252
HP:0001939	Abnormality of metabolism/homeostasis	51112	TRAPPC12	ORPHA:500144
HP:0001939	Abnormality of metabolism/homeostasis	128240	NAXE	OMIM:617186
HP:0001939	Abnormality of metabolism/homeostasis	65993	MRPS34	OMIM:617664
HP:0001939	Abnormality of metabolism/homeostasis	25828	TXN2	ORPHA:478029
HP:0001939	Abnormality of metabolism/homeostasis	25828	TXN2	OMIM:616811
HP:0001939	Abnormality of metabolism/homeostasis	56997	COQ8A	ORPHA:139485
HP:0001939	Abnormality of metabolism/homeostasis	56997	COQ8A	OMIM:612016
HP:0001939	Abnormality of metabolism/homeostasis	84340	GFM2	OMIM:618397
HP:0001939	Abnormality of metabolism/homeostasis	84340	GFM2	ORPHA:565624
HP:0001939	Abnormality of metabolism/homeostasis	539	ATP5PO	OMIM:620359
HP:0001939	Abnormality of metabolism/homeostasis	57038	RARS2	OMIM:611523
HP:0001939	Abnormality of metabolism/homeostasis	4204	MECP2	ORPHA:778
HP:0001939	Abnormality of metabolism/homeostasis	87178	PNPT1	ORPHA:319514
HP:0001939	Abnormality of metabolism/homeostasis	87178	PNPT1	OMIM:614932
HP:0001939	Abnormality of metabolism/homeostasis	80704	SLC19A3	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	55967	NDUFA12	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	55967	NDUFA12	OMIM:618244
HP:0001939	Abnormality of metabolism/homeostasis	51204	TACO1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	1355	COX15	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	1892	ECHS1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	1892	ECHS1	OMIM:616277
HP:0001939	Abnormality of metabolism/homeostasis	4705	NDUFA10	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4705	NDUFA10	OMIM:618243
HP:0001939	Abnormality of metabolism/homeostasis	51601	LIPT1	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4695	NDUFA2	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4697	NDUFA4	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	4697	NDUFA4	OMIM:619065
HP:0001939	Abnormality of metabolism/homeostasis	4704	NDUFA9	ORPHA:255241
HP:0001939	Abnormality of metabolism/homeostasis	84987	COX14	OMIM:619053
HP:0001939	Abnormality of metabolism/homeostasis	4358	MPV17	OMIM:618400
HP:0001939	Abnormality of metabolism/homeostasis	116228	COX20	OMIM:619054
HP:0001939	Abnormality of metabolism/homeostasis	200205	IBA57	OMIM:615330
HP:0001939	Abnormality of metabolism/homeostasis	60386	SLC25A19	OMIM:613710
HP:0001939	Abnormality of metabolism/homeostasis	55157	DARS2	ORPHA:137898
HP:0001939	Abnormality of metabolism/homeostasis	55005	RMND1	OMIM:614922
HP:0001939	Abnormality of metabolism/homeostasis	64116	SLC39A8	ORPHA:468699
HP:0001939	Abnormality of metabolism/homeostasis	9361	LONP1	ORPHA:79243
HP:0001939	Abnormality of metabolism/homeostasis	8802	SUCLG1	OMIM:245400
HP:0001939	Abnormality of metabolism/homeostasis	8802	SUCLG1	ORPHA:17
HP:0001939	Abnormality of metabolism/homeostasis	100303755	PET117	OMIM:619063
HP:0001939	Abnormality of metabolism/homeostasis	27247	NFU1	OMIM:605711
HP:0001939	Abnormality of metabolism/homeostasis	1327	COX4I1	OMIM:619060
HP:0001939	Abnormality of metabolism/homeostasis	84842	HPDL	OMIM:619026
HP:0001939	Abnormality of metabolism/homeostasis	81570	CLPB	OMIM:616271
HP:0001939	Abnormality of metabolism/homeostasis	790955	UQCC3	OMIM:616111
HP:0001939	Abnormality of metabolism/homeostasis	133686	NADK2	OMIM:616034
HP:0001939	Abnormality of metabolism/homeostasis	84300	UQCC2	OMIM:615824
HP:0001939	Abnormality of metabolism/homeostasis	79731	NARS2	OMIM:616239
HP:0001939	Abnormality of metabolism/homeostasis	27010	TPK1	OMIM:614458
HP:0001939	Abnormality of metabolism/homeostasis	3028	HSD17B10	ORPHA:391428
HP:0001939	Abnormality of metabolism/homeostasis	958	CD40	OMIM:606843
HP:0001939	Abnormality of metabolism/homeostasis	2137	EXTL3	ORPHA:508533
HP:0001939	Abnormality of metabolism/homeostasis	356	FASLG	ORPHA:3261
HP:0001939	Abnormality of metabolism/homeostasis	843	CASP10	ORPHA:3261
HP:0001939	Abnormality of metabolism/homeostasis	10125	RASGRP1	ORPHA:3261
HP:0001939	Abnormality of metabolism/homeostasis	10043	TOM1	OMIM:619510
HP:0001939	Abnormality of metabolism/homeostasis	3572	IL6ST	OMIM:619752
HP:0001939	Abnormality of metabolism/homeostasis	930	CD19	OMIM:613493
HP:0001939	Abnormality of metabolism/homeostasis	930	CD19	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	115650	TNFRSF13C	OMIM:613494
HP:0001939	Abnormality of metabolism/homeostasis	115650	TNFRSF13C	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	51604	PIGT	ORPHA:369837
HP:0001939	Abnormality of metabolism/homeostasis	9841	ZBTB24	OMIM:614069
HP:0001939	Abnormality of metabolism/homeostasis	5880	RAC2	OMIM:618987
HP:0001939	Abnormality of metabolism/homeostasis	6948	TCN2	OMIM:275350
HP:0001939	Abnormality of metabolism/homeostasis	6948	TCN2	ORPHA:859
HP:0001939	Abnormality of metabolism/homeostasis	987	LRBA	OMIM:614700
HP:0001939	Abnormality of metabolism/homeostasis	54440	SASH3	OMIM:301082
HP:0001939	Abnormality of metabolism/homeostasis	841	CASP8	OMIM:607271
HP:0001939	Abnormality of metabolism/homeostasis	5336	PLCG2	OMIM:614878
HP:0001939	Abnormality of metabolism/homeostasis	28956	LAMTOR2	OMIM:610798
HP:0001939	Abnormality of metabolism/homeostasis	3718	JAK3	ORPHA:35078
HP:0001939	Abnormality of metabolism/homeostasis	29851	ICOS	OMIM:607594
HP:0001939	Abnormality of metabolism/homeostasis	29851	ICOS	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	7298	TYMS	OMIM:620040
HP:0001939	Abnormality of metabolism/homeostasis	23387	SIK3	OMIM:618162
HP:0001939	Abnormality of metabolism/homeostasis	23495	TNFRSF13B	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	3978	LIG1	OMIM:619774
HP:0001939	Abnormality of metabolism/homeostasis	537	ATP6AP1	OMIM:300972
HP:0001939	Abnormality of metabolism/homeostasis	10625	IVNS1ABP	OMIM:618969
HP:0001939	Abnormality of metabolism/homeostasis	8792	TNFRSF11A	OMIM:612301
HP:0001939	Abnormality of metabolism/homeostasis	5426	POLE	OMIM:615139
HP:0001939	Abnormality of metabolism/homeostasis	5557	PRIM1	OMIM:620005
HP:0001939	Abnormality of metabolism/homeostasis	3514	IGKC	ORPHA:183675
HP:0001939	Abnormality of metabolism/homeostasis	3501	IGHG2	ORPHA:183675
HP:0001939	Abnormality of metabolism/homeostasis	81704	DOCK8	OMIM:243700
HP:0001939	Abnormality of metabolism/homeostasis	96459	FNIP1	OMIM:619705
HP:0001939	Abnormality of metabolism/homeostasis	6688	SPI1	OMIM:619707
HP:0001939	Abnormality of metabolism/homeostasis	9138	ARHGEF1	OMIM:618459
HP:0001939	Abnormality of metabolism/homeostasis	8883	NAE1	OMIM:620210
HP:0001939	Abnormality of metabolism/homeostasis	776	CACNA1D	OMIM:615474
HP:0001939	Abnormality of metabolism/homeostasis	776	CACNA1D	ORPHA:369929
HP:0001939	Abnormality of metabolism/homeostasis	1584	CYP11B1	OMIM:202010
HP:0001939	Abnormality of metabolism/homeostasis	1584	CYP11B1	ORPHA:90795
HP:0001939	Abnormality of metabolism/homeostasis	1584	CYP11B1	ORPHA:403
HP:0001939	Abnormality of metabolism/homeostasis	801	CALM1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3753	KCNE1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	805	CALM2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6910	TBX5	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3757	KCNH2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	9992	KCNE2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	10142	AKAP9	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	10345	TRDN	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6330	SCN4B	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	808	CALM3	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6640	SNTA1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	287	ANK2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3759	KCNJ2	OMIM:170390
HP:0001939	Abnormality of metabolism/homeostasis	1181	CLCN2	ORPHA:404
HP:0001939	Abnormality of metabolism/homeostasis	1181	CLCN2	OMIM:605635
HP:0001939	Abnormality of metabolism/homeostasis	1281	COL3A1	ORPHA:286
HP:0001939	Abnormality of metabolism/homeostasis	9842	PLEKHM1	ORPHA:210110
HP:0001939	Abnormality of metabolism/homeostasis	1436	CSF1R	OMIM:618476
HP:0001939	Abnormality of metabolism/homeostasis	9993	DGCR2	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	8220	ESS2	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	8214	DGCR6	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	54487	DGCR8	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	1312	COMT	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	221037	JMJD1C	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	2812	GP1BB	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	6239	RREB1	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	7290	HIRA	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	9632	SEC24C	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	7353	UFD1	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	421	ARVCF	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	8021	NUP214	OMIM:618426
HP:0001939	Abnormality of metabolism/homeostasis	51567	TDP2	OMIM:616949
HP:0001939	Abnormality of metabolism/homeostasis	2936	GSR	OMIM:618660
HP:0001939	Abnormality of metabolism/homeostasis	3098	HK1	OMIM:235700
HP:0001939	Abnormality of metabolism/homeostasis	9338	TCEAL1	OMIM:301094
HP:0001939	Abnormality of metabolism/homeostasis	6005	RHAG	OMIM:185000
HP:0001939	Abnormality of metabolism/homeostasis	6005	RHAG	ORPHA:71275
HP:0001939	Abnormality of metabolism/homeostasis	10661	KLF1	OMIM:613673
HP:0001939	Abnormality of metabolism/homeostasis	28962	OSTM1	OMIM:259720
HP:0001939	Abnormality of metabolism/homeostasis	6006	RHCE	ORPHA:71275
HP:0001939	Abnormality of metabolism/homeostasis	6007	RHD	ORPHA:71275
HP:0001939	Abnormality of metabolism/homeostasis	4010	LMX1B	ORPHA:2613
HP:0001939	Abnormality of metabolism/homeostasis	84823	LMNB2	ORPHA:79087
HP:0001939	Abnormality of metabolism/homeostasis	2147	F2	ORPHA:325
HP:0001939	Abnormality of metabolism/homeostasis	81494	CFHR5	OMIM:614809
HP:0001939	Abnormality of metabolism/homeostasis	23630	KCNE5	ORPHA:86818
HP:0001939	Abnormality of metabolism/homeostasis	2182	ACSL4	ORPHA:86818
HP:0001939	Abnormality of metabolism/homeostasis	1287	COL4A5	OMIM:301050
HP:0001939	Abnormality of metabolism/homeostasis	60684	TRAPPC11	OMIM:615356
HP:0001939	Abnormality of metabolism/homeostasis	60684	TRAPPC11	ORPHA:369840
HP:0001939	Abnormality of metabolism/homeostasis	57539	WDR35	OMIM:613610
HP:0001939	Abnormality of metabolism/homeostasis	80270	HSD3B7	ORPHA:79301
HP:0001939	Abnormality of metabolism/homeostasis	80270	HSD3B7	OMIM:607765
HP:0001939	Abnormality of metabolism/homeostasis	79848	CSPP1	ORPHA:397715
HP:0001939	Abnormality of metabolism/homeostasis	9786	KIAA0586	ORPHA:397715
HP:0001939	Abnormality of metabolism/homeostasis	22897	CEP164	OMIM:614845
HP:0001939	Abnormality of metabolism/homeostasis	2677	GGCX	OMIM:277450
HP:0001939	Abnormality of metabolism/homeostasis	10068	IL18BP	OMIM:618549
HP:0001939	Abnormality of metabolism/homeostasis	2321	FLT1	ORPHA:275555
HP:0001939	Abnormality of metabolism/homeostasis	219736	STOX1	ORPHA:275555
HP:0001939	Abnormality of metabolism/homeostasis	10699	CORIN	ORPHA:275555
HP:0001939	Abnormality of metabolism/homeostasis	8818	DPM2	OMIM:615042
HP:0001939	Abnormality of metabolism/homeostasis	8818	DPM2	ORPHA:329178
HP:0001939	Abnormality of metabolism/homeostasis	9968	MED12	OMIM:301068
HP:0001939	Abnormality of metabolism/homeostasis	4846	NOS3	OMIM:189800
HP:0001939	Abnormality of metabolism/homeostasis	8813	DPM1	OMIM:608799
HP:0001939	Abnormality of metabolism/homeostasis	8813	DPM1	ORPHA:79322
HP:0001939	Abnormality of metabolism/homeostasis	84317	CCDC115	OMIM:616828
HP:0001939	Abnormality of metabolism/homeostasis	1616	DAXX	ORPHA:100075
HP:0001939	Abnormality of metabolism/homeostasis	2658	GDF2	OMIM:615506
HP:0001939	Abnormality of metabolism/homeostasis	6309	SC5D	OMIM:607330
HP:0001939	Abnormality of metabolism/homeostasis	10466	COG5	ORPHA:263487
HP:0001939	Abnormality of metabolism/homeostasis	91147	TMEM67	OMIM:216360
HP:0001939	Abnormality of metabolism/homeostasis	91147	TMEM67	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	91147	TMEM67	ORPHA:84081
HP:0001939	Abnormality of metabolism/homeostasis	55182	RNF220	OMIM:619688
HP:0001939	Abnormality of metabolism/homeostasis	29998	BICRA	OMIM:619325
HP:0001939	Abnormality of metabolism/homeostasis	79644	SRD5A3	OMIM:612379
HP:0001939	Abnormality of metabolism/homeostasis	79644	SRD5A3	ORPHA:324737
HP:0001939	Abnormality of metabolism/homeostasis	22796	COG2	OMIM:617395
HP:0001939	Abnormality of metabolism/homeostasis	11274	USP18	OMIM:617397
HP:0001939	Abnormality of metabolism/homeostasis	7289	TULP3	OMIM:619902
HP:0001939	Abnormality of metabolism/homeostasis	56623	INPP5E	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	23322	RPGRIP1L	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	57545	CC2D2A	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	57545	CC2D2A	OMIM:619111
HP:0001939	Abnormality of metabolism/homeostasis	285282	RABL3	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	3845	KRAS	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	79728	PALB2	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	23022	PALLD	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	3975	LHX1	ORPHA:261265
HP:0001939	Abnormality of metabolism/homeostasis	51520	LARS1	OMIM:615438
HP:0001939	Abnormality of metabolism/homeostasis	4534	MTM1	OMIM:310400
HP:0001939	Abnormality of metabolism/homeostasis	51124	IER3IP1	OMIM:614231
HP:0001939	Abnormality of metabolism/homeostasis	100506658	OCLN	OMIM:251290
HP:0001939	Abnormality of metabolism/homeostasis	27232	GNMT	OMIM:606664
HP:0001939	Abnormality of metabolism/homeostasis	1650	DDOST	ORPHA:300536
HP:0001939	Abnormality of metabolism/homeostasis	4627	MYH9	ORPHA:182050
HP:0001939	Abnormality of metabolism/homeostasis	5224	PGAM2	OMIM:261670
HP:0001939	Abnormality of metabolism/homeostasis	90523	MLIP	OMIM:620138
HP:0001939	Abnormality of metabolism/homeostasis	6443	SGCB	ORPHA:119
HP:0001939	Abnormality of metabolism/homeostasis	5230	PGK1	ORPHA:713
HP:0001939	Abnormality of metabolism/homeostasis	203859	ANO5	ORPHA:206549
HP:0001939	Abnormality of metabolism/homeostasis	140732	SUN5	ORPHA:529970
HP:0001939	Abnormality of metabolism/homeostasis	83449	PMFBP1	ORPHA:529970
HP:0001939	Abnormality of metabolism/homeostasis	140803	TRPM6	OMIM:602014
HP:0001939	Abnormality of metabolism/homeostasis	1950	EGF	OMIM:611718
HP:0001939	Abnormality of metabolism/homeostasis	54805	CNNM2	OMIM:613882
HP:0001939	Abnormality of metabolism/homeostasis	54805	CNNM2	OMIM:616418
HP:0001939	Abnormality of metabolism/homeostasis	2783	GNB2	OMIM:619503
HP:0001939	Abnormality of metabolism/homeostasis	7074	TIAM1	OMIM:619908
HP:0001939	Abnormality of metabolism/homeostasis	100996717	NOTCH2NLC	OMIM:619473
HP:0001939	Abnormality of metabolism/homeostasis	100996717	NOTCH2NLC	OMIM:603472
HP:0001939	Abnormality of metabolism/homeostasis	2670	GFAP	OMIM:203450
HP:0001939	Abnormality of metabolism/homeostasis	966	CD59	OMIM:612300
HP:0001939	Abnormality of metabolism/homeostasis	2632	GBE1	OMIM:263570
HP:0001939	Abnormality of metabolism/homeostasis	4359	MPZ	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	4359	MPZ	ORPHA:101082
HP:0001939	Abnormality of metabolism/homeostasis	1959	EGR2	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	57716	PRX	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	9990	SLC12A6	OMIM:218000
HP:0001939	Abnormality of metabolism/homeostasis	4683	NBN	OMIM:251260
HP:0001939	Abnormality of metabolism/homeostasis	7204	TRIO	ORPHA:476126
HP:0001939	Abnormality of metabolism/homeostasis	4854	NOTCH3	ORPHA:2591
HP:0001939	Abnormality of metabolism/homeostasis	5159	PDGFRB	ORPHA:2591
HP:0001939	Abnormality of metabolism/homeostasis	10785	WDR4	OMIM:618347
HP:0001939	Abnormality of metabolism/homeostasis	84942	WDR73	OMIM:251300
HP:0001939	Abnormality of metabolism/homeostasis	55775	TDP1	ORPHA:94124
HP:0001939	Abnormality of metabolism/homeostasis	55775	TDP1	OMIM:607250
HP:0001939	Abnormality of metabolism/homeostasis	8526	DGKE	OMIM:615008
HP:0001939	Abnormality of metabolism/homeostasis	4089	SMAD4	OMIM:174900
HP:0001939	Abnormality of metabolism/homeostasis	657	BMPR1A	OMIM:174900
HP:0001939	Abnormality of metabolism/homeostasis	657	BMPR1A	ORPHA:79076
HP:0001939	Abnormality of metabolism/homeostasis	54840	APTX	OMIM:208920
HP:0001939	Abnormality of metabolism/homeostasis	950	SCARB2	OMIM:254900
HP:0001939	Abnormality of metabolism/homeostasis	79053	ALG8	OMIM:608104
HP:0001939	Abnormality of metabolism/homeostasis	55644	OSGEP	OMIM:617729
HP:0001939	Abnormality of metabolism/homeostasis	23533	PIK3R5	ORPHA:64753
HP:0001939	Abnormality of metabolism/homeostasis	23064	SETX	ORPHA:64753
HP:0001939	Abnormality of metabolism/homeostasis	56052	ALG1	ORPHA:79327
HP:0001939	Abnormality of metabolism/homeostasis	3594	IL12RB1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	23534	TNPO3	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	6689	SPIB	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	5450	POU2AF1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	9966	TNFSF15	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	79258	MMEL1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	3663	IRF5	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	11284	PNKP	OMIM:616267
HP:0001939	Abnormality of metabolism/homeostasis	50943	FOXP3	ORPHA:37042
HP:0001939	Abnormality of metabolism/homeostasis	1828	DSG1	OMIM:615508
HP:0001939	Abnormality of metabolism/homeostasis	2737	GLI3	OMIM:175700
HP:0001939	Abnormality of metabolism/homeostasis	222546	RFX6	OMIM:615710
HP:0001939	Abnormality of metabolism/homeostasis	27125	AFF4	ORPHA:444077
HP:0001939	Abnormality of metabolism/homeostasis	9699	RIMS2	OMIM:618970
HP:0001939	Abnormality of metabolism/homeostasis	27241	BBS9	OMIM:615986
HP:0001939	Abnormality of metabolism/homeostasis	9722	NOS1AP	OMIM:619155
HP:0001939	Abnormality of metabolism/homeostasis	1798	DPAGT1	OMIM:608093
HP:0001939	Abnormality of metabolism/homeostasis	5651	TMPRSS15	OMIM:226200
HP:0001939	Abnormality of metabolism/homeostasis	387700	SLC16A12	OMIM:612018
HP:0001939	Abnormality of metabolism/homeostasis	22909	FAN1	OMIM:614817
HP:0001939	Abnormality of metabolism/homeostasis	80067	DCAF17	ORPHA:3464
HP:0001939	Abnormality of metabolism/homeostasis	80067	DCAF17	OMIM:241080
HP:0001939	Abnormality of metabolism/homeostasis	3949	LDLR	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	64240	ABCG5	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	1071	CETP	ORPHA:79506
HP:0001939	Abnormality of metabolism/homeostasis	345	APOC3	ORPHA:79506
HP:0001939	Abnormality of metabolism/homeostasis	8694	DGAT1	OMIM:615863
HP:0001939	Abnormality of metabolism/homeostasis	4644	MYO5A	ORPHA:79476
HP:0001939	Abnormality of metabolism/homeostasis	404672	GTF2H5	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	7737	RNF113A	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	136647	MPLKIP	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	6897	TARS1	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	2961	GTF2E2	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	5625	PRODH	OMIM:239500
HP:0001939	Abnormality of metabolism/homeostasis	5352	PLOD2	OMIM:609220
HP:0001939	Abnormality of metabolism/homeostasis	1718	DHCR24	OMIM:602398
HP:0001939	Abnormality of metabolism/homeostasis	3064	HTT	ORPHA:399
HP:0001939	Abnormality of metabolism/homeostasis	6515	SLC2A3	ORPHA:399
HP:0001939	Abnormality of metabolism/homeostasis	4893	NRAS	OMIM:163200
HP:0001939	Abnormality of metabolism/homeostasis	388015	RTL1	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	388015	RTL1	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	8788	DLK1	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	8788	DLK1	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	55384	MEG3	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	55384	MEG3	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	4205	MEF2A	OMIM:608320
HP:0001939	Abnormality of metabolism/homeostasis	1733	DIO1	OMIM:619855
HP:0001939	Abnormality of metabolism/homeostasis	6907	TBL1X	OMIM:301033
HP:0001939	Abnormality of metabolism/homeostasis	23474	ETHE1	ORPHA:51188
HP:0001939	Abnormality of metabolism/homeostasis	23474	ETHE1	OMIM:602473
HP:0001939	Abnormality of metabolism/homeostasis	4511	MT-TC	OMIM:540000
HP:0001939	Abnormality of metabolism/homeostasis	23203	PMPCA	ORPHA:1170
HP:0001939	Abnormality of metabolism/homeostasis	4576	MT-TT	OMIM:551000
HP:0001939	Abnormality of metabolism/homeostasis	58472	SQOR	OMIM:619221
HP:0001939	Abnormality of metabolism/homeostasis	26873	OPLAH	OMIM:260005
HP:0001939	Abnormality of metabolism/homeostasis	50615	IL21R	OMIM:615207
HP:0001939	Abnormality of metabolism/homeostasis	336	APOA2	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	2053	EPHX2	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	10842	PPP1R17	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	20	ABCA2	OMIM:618808
HP:0001939	Abnormality of metabolism/homeostasis	89910	UBE3B	OMIM:244450
HP:0001939	Abnormality of metabolism/homeostasis	201163	FLCN	OMIM:610883
HP:0001939	Abnormality of metabolism/homeostasis	1491	CTH	OMIM:219500
HP:0001939	Abnormality of metabolism/homeostasis	1491	CTH	ORPHA:212
HP:0001939	Abnormality of metabolism/homeostasis	9488	PIGB	OMIM:618580
HP:0001939	Abnormality of metabolism/homeostasis	79705	LRRK1	OMIM:615198
HP:0001939	Abnormality of metabolism/homeostasis	5279	PIGC	OMIM:617816
HP:0001939	Abnormality of metabolism/homeostasis	128869	PIGU	OMIM:618590
HP:0001939	Abnormality of metabolism/homeostasis	10026	PIGK	OMIM:618879
HP:0001939	Abnormality of metabolism/homeostasis	55650	PIGV	OMIM:239300
HP:0001939	Abnormality of metabolism/homeostasis	55650	PIGV	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	90	ACVR1	OMIM:135100
HP:0001939	Abnormality of metabolism/homeostasis	84992	PIGY	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	84992	PIGY	OMIM:616809
HP:0001939	Abnormality of metabolism/homeostasis	84720	PIGO	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	84720	PIGO	OMIM:614749
HP:0001939	Abnormality of metabolism/homeostasis	93210	PGAP3	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	93210	PGAP3	OMIM:615716
HP:0001939	Abnormality of metabolism/homeostasis	284098	PIGW	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	284098	PIGW	OMIM:616025
HP:0001939	Abnormality of metabolism/homeostasis	27315	PGAP2	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	27315	PGAP2	OMIM:614207
HP:0001939	Abnormality of metabolism/homeostasis	54872	PIGG	OMIM:616917
HP:0001939	Abnormality of metabolism/homeostasis	94005	PIGS	OMIM:618143
HP:0001939	Abnormality of metabolism/homeostasis	9091	PIGQ	OMIM:618548
HP:0001939	Abnormality of metabolism/homeostasis	8733	GPAA1	ORPHA:529665
HP:0001939	Abnormality of metabolism/homeostasis	50964	SOST	OMIM:122860
HP:0001939	Abnormality of metabolism/homeostasis	63916	ELMO2	OMIM:606893
HP:0001939	Abnormality of metabolism/homeostasis	166929	SGMS2	OMIM:126550
HP:0001939	Abnormality of metabolism/homeostasis	60681	FKBP10	OMIM:610968
HP:0001939	Abnormality of metabolism/homeostasis	57592	ZNF687	OMIM:616833
HP:0001939	Abnormality of metabolism/homeostasis	9915	ARNT2	OMIM:615926
HP:0001939	Abnormality of metabolism/homeostasis	4867	NPHP1	OMIM:256100
HP:0001939	Abnormality of metabolism/homeostasis	92344	GORAB	OMIM:231070
HP:0001939	Abnormality of metabolism/homeostasis	2887	GRB10	ORPHA:96182
HP:0001939	Abnormality of metabolism/homeostasis	1200	TPP1	OMIM:204500
HP:0001939	Abnormality of metabolism/homeostasis	1201	CLN3	OMIM:204200
HP:0001939	Abnormality of metabolism/homeostasis	2055	CLN8	OMIM:600143
HP:0001939	Abnormality of metabolism/homeostasis	2055	CLN8	ORPHA:1947
HP:0001939	Abnormality of metabolism/homeostasis	154881	KCTD7	OMIM:611726
HP:0001939	Abnormality of metabolism/homeostasis	1041	CDSN	ORPHA:90368
HP:0001939	Abnormality of metabolism/homeostasis	1041	CDSN	OMIM:270300
HP:0001939	Abnormality of metabolism/homeostasis	121391	KRT74	ORPHA:90368
HP:0001939	Abnormality of metabolism/homeostasis	3857	KRT9	OMIM:144200
HP:0001939	Abnormality of metabolism/homeostasis	7297	TYK2	OMIM:611521
HP:0001939	Abnormality of metabolism/homeostasis	51135	IRAK4	OMIM:607676
HP:0001939	Abnormality of metabolism/homeostasis	84905	ZNF341	OMIM:618282
HP:0001939	Abnormality of metabolism/homeostasis	7941	PLA2G7	OMIM:147050
HP:0001939	Abnormality of metabolism/homeostasis	3566	IL4R	OMIM:147050
HP:0001939	Abnormality of metabolism/homeostasis	2206	MS4A2	OMIM:147050
HP:0001939	Abnormality of metabolism/homeostasis	6868	ADAM17	OMIM:614328
HP:0001939	Abnormality of metabolism/homeostasis	2177	FANCD2	OMIM:227646
HP:0001939	Abnormality of metabolism/homeostasis	2176	FANCC	OMIM:227645
HP:0001939	Abnormality of metabolism/homeostasis	2178	FANCE	OMIM:600901
HP:0001939	Abnormality of metabolism/homeostasis	2175	FANCA	OMIM:227650
HP:0001939	Abnormality of metabolism/homeostasis	2744	GLS	OMIM:618412
HP:0001939	Abnormality of metabolism/homeostasis	2189	FANCG	OMIM:614082
HP:0001939	Abnormality of metabolism/homeostasis	2189	FANCG	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2187	FANCB	OMIM:300514
HP:0001939	Abnormality of metabolism/homeostasis	2187	FANCB	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	10459	MAD2L2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	29089	UBE2T	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2188	FANCF	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	5888	RAD51	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	55159	RFWD3	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	83990	BRIP1	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	57697	FANCM	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	84464	SLX4	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	55215	FANCI	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	338657	CENATAC	OMIM:620153
HP:0001939	Abnormality of metabolism/homeostasis	64858	DCLRE1B	OMIM:620133
HP:0001939	Abnormality of metabolism/homeostasis	57654	UVSSA	OMIM:614640
HP:0001939	Abnormality of metabolism/homeostasis	1203	CLN5	OMIM:256731
HP:0001939	Abnormality of metabolism/homeostasis	54982	CLN6	OMIM:204300
HP:0001939	Abnormality of metabolism/homeostasis	80331	DNAJC5	OMIM:162350
HP:0001939	Abnormality of metabolism/homeostasis	4143	MAT1A	OMIM:250850
HP:0001939	Abnormality of metabolism/homeostasis	9015	TAF1A	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	5663	PSEN1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7112	TMPO	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9464	HAND2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	88	ACTN2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	88	ACTN2	OMIM:618655
HP:0001939	Abnormality of metabolism/homeostasis	10486	CAP2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	10060	ABCC9	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7168	TPM1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7414	VCL	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1832	DSP	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	70	ACTC1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	27063	ANKRD1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	8048	CSRP3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	3910	LAMA4	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9531	BAG3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9531	BAG3	OMIM:612954
HP:0001939	Abnormality of metabolism/homeostasis	5350	PLN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	91624	NEXN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	4624	MYH6	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	282996	RBM20	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	11155	LDB3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	11155	LDB3	OMIM:609452
HP:0001939	Abnormality of metabolism/homeostasis	2274	FHL2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	5894	RAF1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	57798	GATAD1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7134	TNNC1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1674	DES	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1674	DES	OMIM:604765
HP:0001939	Abnormality of metabolism/homeostasis	6444	SGCD	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	6444	SGCD	OMIM:601287
HP:0001939	Abnormality of metabolism/homeostasis	6444	SGCD	OMIM:606685
HP:0001939	Abnormality of metabolism/homeostasis	8557	TCAP	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	8557	TCAP	OMIM:601954
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615350
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615351
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615352
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:588
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:370968
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:370959
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:353327
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:363623
HP:0001939	Abnormality of metabolism/homeostasis	3094	HINT1	ORPHA:324442
HP:0001939	Abnormality of metabolism/homeostasis	3094	HINT1	OMIM:137200
HP:0001939	Abnormality of metabolism/homeostasis	8106	PABPN1	ORPHA:270
HP:0001939	Abnormality of metabolism/homeostasis	8106	PABPN1	OMIM:164300
HP:0001939	Abnormality of metabolism/homeostasis	5361	PLXNA1	OMIM:619955
HP:0001939	Abnormality of metabolism/homeostasis	55733	HHAT	OMIM:600092
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	OMIM:253600
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	ORPHA:267
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	OMIM:618129
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	ORPHA:266
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	OMIM:609200
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	ORPHA:98911
HP:0001939	Abnormality of metabolism/homeostasis	84466	MEGF10	OMIM:614399
HP:0001939	Abnormality of metabolism/homeostasis	22954	TRIM32	ORPHA:1878
HP:0001939	Abnormality of metabolism/homeostasis	22954	TRIM32	OMIM:254110
HP:0001939	Abnormality of metabolism/homeostasis	311	ANXA11	OMIM:619733
HP:0001939	Abnormality of metabolism/homeostasis	6445	SGCG	OMIM:253700
HP:0001939	Abnormality of metabolism/homeostasis	6445	SGCG	ORPHA:353
HP:0001939	Abnormality of metabolism/homeostasis	83636	C19orf12	OMIM:614298
HP:0001939	Abnormality of metabolism/homeostasis	844	CASQ1	OMIM:616231
HP:0001939	Abnormality of metabolism/homeostasis	844	CASQ1	ORPHA:88635
HP:0001939	Abnormality of metabolism/homeostasis	23299	BICD2	OMIM:615290
HP:0001939	Abnormality of metabolism/homeostasis	4633	MYL2	OMIM:619424
HP:0001939	Abnormality of metabolism/homeostasis	51693	TRAPPC2L	OMIM:618331
HP:0001939	Abnormality of metabolism/homeostasis	58497	PRUNE1	ORPHA:544469
HP:0001939	Abnormality of metabolism/homeostasis	389827	MYMK	OMIM:254940
HP:0001939	Abnormality of metabolism/homeostasis	353116	RILPL1	OMIM:619790
HP:0001939	Abnormality of metabolism/homeostasis	160418	TMTC3	OMIM:617255
HP:0001939	Abnormality of metabolism/homeostasis	79912	PYROXD1	OMIM:617258
HP:0001939	Abnormality of metabolism/homeostasis	203547	VMA21	OMIM:310440
HP:0001939	Abnormality of metabolism/homeostasis	6442	SGCA	OMIM:608099
HP:0001939	Abnormality of metabolism/homeostasis	6442	SGCA	ORPHA:62
HP:0001939	Abnormality of metabolism/homeostasis	10049	DNAJB6	OMIM:603511
HP:0001939	Abnormality of metabolism/homeostasis	3714	JAG2	OMIM:619566
HP:0001939	Abnormality of metabolism/homeostasis	63895	PIEZO2	OMIM:617146
HP:0001939	Abnormality of metabolism/homeostasis	6904	TBCD	ORPHA:496641
HP:0001939	Abnormality of metabolism/homeostasis	6904	TBCD	OMIM:617193
HP:0001939	Abnormality of metabolism/homeostasis	65260	COA7	OMIM:618387
HP:0001939	Abnormality of metabolism/homeostasis	26092	TOR1AIP1	OMIM:617072
HP:0001939	Abnormality of metabolism/homeostasis	2801	GOLGA2	OMIM:620240
HP:0001939	Abnormality of metabolism/homeostasis	9987	HNRNPDL	OMIM:609115
HP:0001939	Abnormality of metabolism/homeostasis	6840	SVIL	OMIM:619040
HP:0001939	Abnormality of metabolism/homeostasis	1073	CFL2	ORPHA:171436
HP:0001939	Abnormality of metabolism/homeostasis	199857	ALG14	ORPHA:353327
HP:0001939	Abnormality of metabolism/homeostasis	3736	KCNA1	ORPHA:972
HP:0001939	Abnormality of metabolism/homeostasis	3736	KCNA1	OMIM:160120
HP:0001939	Abnormality of metabolism/homeostasis	29967	LRP12	OMIM:164310
HP:0001939	Abnormality of metabolism/homeostasis	9570	GOSR2	OMIM:620166
HP:0001939	Abnormality of metabolism/homeostasis	9570	GOSR2	OMIM:614018
HP:0001939	Abnormality of metabolism/homeostasis	374393	FAM111B	OMIM:615704
HP:0001939	Abnormality of metabolism/homeostasis	4744	NEFH	OMIM:616924
HP:0001939	Abnormality of metabolism/homeostasis	5165	PDK3	ORPHA:352675
HP:0001939	Abnormality of metabolism/homeostasis	11149	BVES	OMIM:616812
HP:0001939	Abnormality of metabolism/homeostasis	55679	LIMS2	OMIM:616827
HP:0001939	Abnormality of metabolism/homeostasis	3679	ITGA7	OMIM:613204
HP:0001939	Abnormality of metabolism/homeostasis	55033	FKBP14	ORPHA:300179
HP:0001939	Abnormality of metabolism/homeostasis	10755	GIPC1	OMIM:618940
HP:0001939	Abnormality of metabolism/homeostasis	54888	NSUN2	OMIM:611091
HP:0001939	Abnormality of metabolism/homeostasis	3920	LAMP2	OMIM:300257
HP:0001939	Abnormality of metabolism/homeostasis	9907	AP5Z1	ORPHA:306511
HP:0001939	Abnormality of metabolism/homeostasis	8449	DHX16	OMIM:618733
HP:0001939	Abnormality of metabolism/homeostasis	284217	LAMA1	ORPHA:370022
HP:0001939	Abnormality of metabolism/homeostasis	3071	NCKAP1L	OMIM:618982
HP:0001939	Abnormality of metabolism/homeostasis	10526	IPO8	OMIM:619472
HP:0001939	Abnormality of metabolism/homeostasis	4878	NPPA	OMIM:615745
HP:0001939	Abnormality of metabolism/homeostasis	3029	HAGH	OMIM:614033
HP:0001939	Abnormality of metabolism/homeostasis	10229	COQ7	OMIM:616733
HP:0001939	Abnormality of metabolism/homeostasis	2876	GPX1	OMIM:614164
HP:0001939	Abnormality of metabolism/homeostasis	7319	UBE2A	ORPHA:163956
HP:0001939	Abnormality of metabolism/homeostasis	5048	PAFAH1B1	ORPHA:95232
HP:0001939	Abnormality of metabolism/homeostasis	497661	C18orf32	OMIM:619985
HP:0001939	Abnormality of metabolism/homeostasis	84572	GNPTG	OMIM:252605
HP:0001939	Abnormality of metabolism/homeostasis	79158	GNPTAB	OMIM:252600
HP:0001939	Abnormality of metabolism/homeostasis	79158	GNPTAB	OMIM:252500
HP:0001939	Abnormality of metabolism/homeostasis	2937	GSS	OMIM:266130
HP:0001939	Abnormality of metabolism/homeostasis	2937	GSS	OMIM:231900
HP:0001939	Abnormality of metabolism/homeostasis	80207	OPA3	OMIM:258501
HP:0001939	Abnormality of metabolism/homeostasis	131118	DNAJC19	OMIM:610198
HP:0001939	Abnormality of metabolism/homeostasis	27429	HTRA2	OMIM:617248
HP:0001939	Abnormality of metabolism/homeostasis	92609	TIMM50	OMIM:617698
HP:0001939	Abnormality of metabolism/homeostasis	3155	HMGCL	ORPHA:20
HP:0001939	Abnormality of metabolism/homeostasis	3155	HMGCL	OMIM:246450
HP:0001939	Abnormality of metabolism/homeostasis	55654	TMEM127	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	55654	TMEM127	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	OMIM:171400
HP:0001939	Abnormality of metabolism/homeostasis	6390	SDHB	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	6390	SDHB	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6390	SDHB	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	6392	SDHD	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	6392	SDHD	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6392	SDHD	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	4149	MAX	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	4149	MAX	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	7428	VHL	OMIM:171300
HP:0001939	Abnormality of metabolism/homeostasis	7428	VHL	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	7428	VHL	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	1743	DLST	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	4191	MDH2	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6389	SDHA	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	23095	KIF1B	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	8402	SLC25A11	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	54949	SDHAF2	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	4763	NF1	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6391	SDHC	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	1788	DNMT3A	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	2034	EPAS1	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	6530	SLC6A2	OMIM:604715
HP:0001939	Abnormality of metabolism/homeostasis	5091	PC	OMIM:266150
HP:0001939	Abnormality of metabolism/homeostasis	51241	COX16	OMIM:619355
HP:0001939	Abnormality of metabolism/homeostasis	55768	NGLY1	OMIM:615273
HP:0001939	Abnormality of metabolism/homeostasis	26235	FBXL4	OMIM:615471
HP:0001939	Abnormality of metabolism/homeostasis	498	ATP5F1A	OMIM:616045
HP:0001939	Abnormality of metabolism/homeostasis	498	ATP5F1A	OMIM:620358
HP:0001939	Abnormality of metabolism/homeostasis	11222	MRPL3	OMIM:614582
HP:0001939	Abnormality of metabolism/homeostasis	763	CA5A	OMIM:615751
HP:0001939	Abnormality of metabolism/homeostasis	10059	DNM1L	OMIM:614388
HP:0001939	Abnormality of metabolism/homeostasis	25821	MTO1	OMIM:614702
HP:0001939	Abnormality of metabolism/homeostasis	90624	LYRM7	OMIM:615838
HP:0001939	Abnormality of metabolism/homeostasis	8659	ALDH4A1	ORPHA:79101
HP:0001939	Abnormality of metabolism/homeostasis	57176	VARS2	OMIM:615917
HP:0001939	Abnormality of metabolism/homeostasis	2203	FBP1	ORPHA:348
HP:0001939	Abnormality of metabolism/homeostasis	80222	TARS2	OMIM:615918
HP:0001939	Abnormality of metabolism/homeostasis	4535	MT-ND1	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4536	MT-ND2	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4537	MT-ND3	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4538	MT-ND4	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4567	MT-TL1	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4578	MT-TW	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4577	MT-TV	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4540	MT-ND5	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4541	MT-ND6	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4566	MT-TK	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	8050	PDHX	OMIM:245349
HP:0001939	Abnormality of metabolism/homeostasis	4716	NDUFB10	OMIM:619003
HP:0001939	Abnormality of metabolism/homeostasis	6341	SCO1	OMIM:619048
HP:0001939	Abnormality of metabolism/homeostasis	7385	UQCRC2	OMIM:615160
HP:0001939	Abnormality of metabolism/homeostasis	5160	PDHA1	OMIM:312170
HP:0001939	Abnormality of metabolism/homeostasis	1352	COX10	OMIM:619046
HP:0001939	Abnormality of metabolism/homeostasis	387787	LIPT2	OMIM:617668
HP:0001939	Abnormality of metabolism/homeostasis	1841	DTYMK	OMIM:619847
HP:0001939	Abnormality of metabolism/homeostasis	4285	MIPEP	OMIM:617228
HP:0001939	Abnormality of metabolism/homeostasis	54931	TRMT10C	OMIM:616974
HP:0001939	Abnormality of metabolism/homeostasis	5428	POLG	ORPHA:298
HP:0001939	Abnormality of metabolism/homeostasis	1890	TYMP	ORPHA:298
HP:0001939	Abnormality of metabolism/homeostasis	3980	LIG3	ORPHA:298
HP:0001939	Abnormality of metabolism/homeostasis	1340	COX6B1	OMIM:619051
HP:0001939	Abnormality of metabolism/homeostasis	90161	HS6ST2	OMIM:301025
HP:0001939	Abnormality of metabolism/homeostasis	4718	NDUFC2	OMIM:619170
HP:0001939	Abnormality of metabolism/homeostasis	1351	COX8A	OMIM:619059
HP:0001939	Abnormality of metabolism/homeostasis	51116	MRPS2	OMIM:617950
HP:0001939	Abnormality of metabolism/homeostasis	125988	MICOS13	OMIM:618329
HP:0001939	Abnormality of metabolism/homeostasis	4724	NDUFS4	OMIM:252010
HP:0001939	Abnormality of metabolism/homeostasis	162417	NAGS	ORPHA:927
HP:0001939	Abnormality of metabolism/homeostasis	51079	NDUFA13	OMIM:618249
HP:0001939	Abnormality of metabolism/homeostasis	291	SLC25A4	OMIM:615418
HP:0001939	Abnormality of metabolism/homeostasis	54704	PDP1	ORPHA:79246
HP:0001939	Abnormality of metabolism/homeostasis	9377	COX5A	OMIM:619064
HP:0001939	Abnormality of metabolism/homeostasis	55863	TMEM126B	OMIM:618250
HP:0001939	Abnormality of metabolism/homeostasis	54968	TMEM70	OMIM:614052
HP:0001939	Abnormality of metabolism/homeostasis	3735	KARS1	OMIM:619147
HP:0001939	Abnormality of metabolism/homeostasis	63931	MRPS14	OMIM:618378
HP:0001939	Abnormality of metabolism/homeostasis	57017	COQ9	OMIM:614654
HP:0001939	Abnormality of metabolism/homeostasis	84947	SERAC1	OMIM:614739
HP:0001939	Abnormality of metabolism/homeostasis	10577	NPC2	OMIM:607625
HP:0001939	Abnormality of metabolism/homeostasis	4864	NPC1	OMIM:257220
HP:0001939	Abnormality of metabolism/homeostasis	10483	SEC23B	OMIM:224100
HP:0001939	Abnormality of metabolism/homeostasis	146059	CDAN1	OMIM:224120
HP:0001939	Abnormality of metabolism/homeostasis	5095	PCCA	ORPHA:35
HP:0001939	Abnormality of metabolism/homeostasis	5095	PCCA	OMIM:606054
HP:0001939	Abnormality of metabolism/homeostasis	5096	PCCB	ORPHA:35
HP:0001939	Abnormality of metabolism/homeostasis	5096	PCCB	OMIM:606054
HP:0001939	Abnormality of metabolism/homeostasis	64087	MCCC2	OMIM:210210
HP:0001939	Abnormality of metabolism/homeostasis	3000	GUCY2D	OMIM:204000
HP:0001939	Abnormality of metabolism/homeostasis	10165	SLC25A13	OMIM:605814
HP:0001939	Abnormality of metabolism/homeostasis	10165	SLC25A13	ORPHA:247598
HP:0001939	Abnormality of metabolism/homeostasis	435	ASL	ORPHA:23
HP:0001939	Abnormality of metabolism/homeostasis	435	ASL	OMIM:207900
HP:0001939	Abnormality of metabolism/homeostasis	1497	CTNS	OMIM:219800
HP:0001939	Abnormality of metabolism/homeostasis	1497	CTNS	ORPHA:411629
HP:0001939	Abnormality of metabolism/homeostasis	1497	CTNS	ORPHA:411634
HP:0001939	Abnormality of metabolism/homeostasis	6505	SLC1A1	OMIM:222730
HP:0001939	Abnormality of metabolism/homeostasis	4952	OCRL	OMIM:300555
HP:0001939	Abnormality of metabolism/homeostasis	4952	OCRL	OMIM:309000
HP:0001939	Abnormality of metabolism/homeostasis	4952	OCRL	ORPHA:534
HP:0001939	Abnormality of metabolism/homeostasis	51095	TRNT1	OMIM:616084
HP:0001939	Abnormality of metabolism/homeostasis	4574	MT-TS1	OMIM:220110
HP:0001939	Abnormality of metabolism/homeostasis	4570	MT-TN	OMIM:220110
HP:0001939	Abnormality of metabolism/homeostasis	6834	SURF1	OMIM:220110
HP:0001939	Abnormality of metabolism/homeostasis	54914	FOCAD	OMIM:619991
HP:0001939	Abnormality of metabolism/homeostasis	2592	GALT	OMIM:230400
HP:0001939	Abnormality of metabolism/homeostasis	84334	COA8	ORPHA:436271
HP:0001939	Abnormality of metabolism/homeostasis	10667	FARS2	OMIM:614946
HP:0001939	Abnormality of metabolism/homeostasis	1184	CLCN5	OMIM:308990
HP:0001939	Abnormality of metabolism/homeostasis	1184	CLCN5	OMIM:300009
HP:0001939	Abnormality of metabolism/homeostasis	5830	PEX5	OMIM:214110
HP:0001939	Abnormality of metabolism/homeostasis	1373	CPS1	ORPHA:147
HP:0001939	Abnormality of metabolism/homeostasis	5009	OTC	ORPHA:664
HP:0001939	Abnormality of metabolism/homeostasis	7372	UMPS	ORPHA:30
HP:0001939	Abnormality of metabolism/homeostasis	617	BCS1L	OMIM:603358
HP:0001939	Abnormality of metabolism/homeostasis	617	BCS1L	OMIM:124000
HP:0001939	Abnormality of metabolism/homeostasis	4141	MARS1	OMIM:615486
HP:0001939	Abnormality of metabolism/homeostasis	2628	GATM	OMIM:134600
HP:0001939	Abnormality of metabolism/homeostasis	137682	NDUFAF6	OMIM:618913
HP:0001939	Abnormality of metabolism/homeostasis	55503	TRPV6	ORPHA:417
HP:0001939	Abnormality of metabolism/homeostasis	846	CASR	ORPHA:417
HP:0001939	Abnormality of metabolism/homeostasis	846	CASR	OMIM:239200
HP:0001939	Abnormality of metabolism/homeostasis	2729	GCLC	ORPHA:33574
HP:0001939	Abnormality of metabolism/homeostasis	4758	NEU1	ORPHA:812
HP:0001939	Abnormality of metabolism/homeostasis	1962	EHHADH	OMIM:615605
HP:0001939	Abnormality of metabolism/homeostasis	540	ATP7B	OMIM:277900
HP:0001939	Abnormality of metabolism/homeostasis	5189	PEX1	OMIM:214100
HP:0001939	Abnormality of metabolism/homeostasis	4942	OAT	ORPHA:414
HP:0001939	Abnormality of metabolism/homeostasis	2271	FH	OMIM:606812
HP:0001939	Abnormality of metabolism/homeostasis	10559	SLC35A1	OMIM:603585
HP:0001939	Abnormality of metabolism/homeostasis	100131801	PET100	OMIM:619055
HP:0001939	Abnormality of metabolism/homeostasis	10841	FTCD	OMIM:229100
HP:0001939	Abnormality of metabolism/homeostasis	10560	SLC19A2	OMIM:249270
HP:0001939	Abnormality of metabolism/homeostasis	7084	TK2	OMIM:609560
HP:0001939	Abnormality of metabolism/homeostasis	3172	HNF4A	OMIM:616026
HP:0001939	Abnormality of metabolism/homeostasis	50628	GEMIN4	OMIM:617913
HP:0001939	Abnormality of metabolism/homeostasis	8942	KYNU	OMIM:236800
HP:0001939	Abnormality of metabolism/homeostasis	4668	NAGA	OMIM:609242
HP:0001939	Abnormality of metabolism/homeostasis	91647	ATPAF2	OMIM:604273
HP:0001939	Abnormality of metabolism/homeostasis	3081	HGD	ORPHA:56
HP:0001939	Abnormality of metabolism/homeostasis	9056	SLC7A7	OMIM:222700
HP:0001939	Abnormality of metabolism/homeostasis	26276	VPS33B	OMIM:208085
HP:0001939	Abnormality of metabolism/homeostasis	8803	SUCLA2	OMIM:612073
HP:0001939	Abnormality of metabolism/homeostasis	8803	SUCLA2	ORPHA:1933
HP:0001939	Abnormality of metabolism/homeostasis	132158	GLYCTK	OMIM:220120
HP:0001939	Abnormality of metabolism/homeostasis	9054	NFS1	OMIM:619386
HP:0001939	Abnormality of metabolism/homeostasis	50484	RRM2B	OMIM:612075
HP:0001939	Abnormality of metabolism/homeostasis	63894	VIPAS39	OMIM:613404
HP:0001939	Abnormality of metabolism/homeostasis	26275	HIBCH	OMIM:250620
HP:0001939	Abnormality of metabolism/homeostasis	2068	ERCC2	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	7507	XPA	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	2071	ERCC3	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	7508	XPC	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	1643	DDB2	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	2072	ERCC4	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	2073	ERCC5	ORPHA:910
HP:0001939	Abnormality of metabolism/homeostasis	2582	GALE	OMIM:230350
HP:0001939	Abnormality of metabolism/homeostasis	11005	SPINK5	ORPHA:634
HP:0001939	Abnormality of metabolism/homeostasis	4337	MOCS1	OMIM:252150
HP:0001939	Abnormality of metabolism/homeostasis	6821	SUOX	OMIM:272300
HP:0001939	Abnormality of metabolism/homeostasis	6999	TDO2	OMIM:600627
HP:0001939	Abnormality of metabolism/homeostasis	116519	APOA5	OMIM:145750
HP:0001939	Abnormality of metabolism/homeostasis	116519	APOA5	OMIM:144650
HP:0001939	Abnormality of metabolism/homeostasis	3931	LCAT	OMIM:136120
HP:0001939	Abnormality of metabolism/homeostasis	197131	UBR1	OMIM:243800
HP:0001939	Abnormality of metabolism/homeostasis	4023	LPL	OMIM:144250
HP:0001939	Abnormality of metabolism/homeostasis	79648	MCPH1	OMIM:251200
HP:0001939	Abnormality of metabolism/homeostasis	55240	STEAP3	ORPHA:300298
HP:0001939	Abnormality of metabolism/homeostasis	9652	SKIC3	OMIM:222470
HP:0001939	Abnormality of metabolism/homeostasis	4891	SLC11A2	OMIM:206100
HP:0001939	Abnormality of metabolism/homeostasis	57817	HAMP	OMIM:613313
HP:0001939	Abnormality of metabolism/homeostasis	148738	HJV	OMIM:602390
HP:0001939	Abnormality of metabolism/homeostasis	7036	TFR2	OMIM:604250
HP:0001939	Abnormality of metabolism/homeostasis	5144	PDE4D	ORPHA:280651
HP:0001939	Abnormality of metabolism/homeostasis	149775	GNAS-AS1	OMIM:603233
HP:0001939	Abnormality of metabolism/homeostasis	200942	KLHDC8B	OMIM:236000
HP:0001939	Abnormality of metabolism/homeostasis	50814	NSDHL	OMIM:308050
HP:0001939	Abnormality of metabolism/homeostasis	8675	STX16	ORPHA:94089
HP:0001939	Abnormality of metabolism/homeostasis	63901	FAM111A	ORPHA:93325
HP:0001939	Abnormality of metabolism/homeostasis	3073	HEXA	OMIM:272800
HP:0001939	Abnormality of metabolism/homeostasis	2760	GM2A	OMIM:272750
HP:0001939	Abnormality of metabolism/homeostasis	11136	SLC7A9	OMIM:220100
HP:0001939	Abnormality of metabolism/homeostasis	217	ALDH2	OMIM:610251
HP:0001939	Abnormality of metabolism/homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0001939	Abnormality of metabolism/homeostasis	9620	CELSR1	OMIM:619319
HP:0001939	Abnormality of metabolism/homeostasis	57165	GJC2	ORPHA:79452
HP:0001939	Abnormality of metabolism/homeostasis	27329	ANGPTL3	OMIM:605019
HP:0001939	Abnormality of metabolism/homeostasis	6307	MSMO1	OMIM:616834
HP:0001939	Abnormality of metabolism/homeostasis	80025	PANK2	OMIM:607236
HP:0001939	Abnormality of metabolism/homeostasis	2332	FMR1	ORPHA:908
HP:0001939	Abnormality of metabolism/homeostasis	2332	FMR1	OMIM:300624
HP:0001939	Abnormality of metabolism/homeostasis	84548	TMEM185A	ORPHA:100974
HP:0001939	Abnormality of metabolism/homeostasis	29775	CARD10	OMIM:619632
HP:0001939	Abnormality of metabolism/homeostasis	79722	ANKRD55	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	79722	ANKRD55	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	5771	PTPN2	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	5771	PTPN2	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	27178	IL37	OMIM:619398
HP:0001939	Abnormality of metabolism/homeostasis	1314	COPA	OMIM:616414
HP:0001939	Abnormality of metabolism/homeostasis	3557	IL1RN	OMIM:612852
HP:0001939	Abnormality of metabolism/homeostasis	10095	ARPC1B	OMIM:617718
HP:0001939	Abnormality of metabolism/homeostasis	2821	GPI	OMIM:613470
HP:0001939	Abnormality of metabolism/homeostasis	11231	SEC63	ORPHA:2924
HP:0001939	Abnormality of metabolism/homeostasis	5589	PRKCSH	ORPHA:2924
HP:0001939	Abnormality of metabolism/homeostasis	5589	PRKCSH	OMIM:174050
HP:0001939	Abnormality of metabolism/homeostasis	4041	LRP5	ORPHA:2924
HP:0001939	Abnormality of metabolism/homeostasis	2328	FMO3	OMIM:602079
HP:0001939	Abnormality of metabolism/homeostasis	2328	FMO3	ORPHA:468726
HP:0001939	Abnormality of metabolism/homeostasis	157570	ESCO2	OMIM:268300
HP:0001939	Abnormality of metabolism/homeostasis	51251	NT5C3A	OMIM:266120
HP:0001939	Abnormality of metabolism/homeostasis	6748	SSR4	OMIM:300934
HP:0001939	Abnormality of metabolism/homeostasis	79868	ALG13	OMIM:300884
HP:0001939	Abnormality of metabolism/homeostasis	91869	RFT1	OMIM:612015
HP:0001939	Abnormality of metabolism/homeostasis	197257	LDHD	OMIM:245450
HP:0001939	Abnormality of metabolism/homeostasis	89874	SLC25A21	OMIM:618811
HP:0001939	Abnormality of metabolism/homeostasis	1806	DPYD	OMIM:274270
HP:0001939	Abnormality of metabolism/homeostasis	1806	DPYD	ORPHA:1675
HP:0001939	Abnormality of metabolism/homeostasis	2643	GCH1	ORPHA:98808
HP:0001939	Abnormality of metabolism/homeostasis	4929	NR4A2	ORPHA:98808
HP:0001939	Abnormality of metabolism/homeostasis	4929	NR4A2	OMIM:619911
HP:0001939	Abnormality of metabolism/homeostasis	3615	IMPDH2	ORPHA:98808
HP:0001939	Abnormality of metabolism/homeostasis	7054	TH	OMIM:605407
HP:0001939	Abnormality of metabolism/homeostasis	7054	TH	ORPHA:101150
HP:0001939	Abnormality of metabolism/homeostasis	55163	PNPO	ORPHA:79096
HP:0001939	Abnormality of metabolism/homeostasis	55163	PNPO	OMIM:610090
HP:0001939	Abnormality of metabolism/homeostasis	5805	PTS	OMIM:261640
HP:0001939	Abnormality of metabolism/homeostasis	9256	TSPOAP1	ORPHA:101150
HP:0001939	Abnormality of metabolism/homeostasis	10159	ATP6AP2	OMIM:301045
HP:0001939	Abnormality of metabolism/homeostasis	51750	RTEL1	OMIM:615190
HP:0001939	Abnormality of metabolism/homeostasis	4790	NFKB1	OMIM:616576
HP:0001939	Abnormality of metabolism/homeostasis	4790	NFKB1	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	114803	MYSM1	OMIM:618116
HP:0001939	Abnormality of metabolism/homeostasis	56259	CTNNBL1	OMIM:619846
HP:0001939	Abnormality of metabolism/homeostasis	79840	NHEJ1	ORPHA:169079
HP:0001939	Abnormality of metabolism/homeostasis	7037	TFRC	OMIM:616740
HP:0001939	Abnormality of metabolism/homeostasis	10111	RAD50	OMIM:613078
HP:0001939	Abnormality of metabolism/homeostasis	9839	ZEB2	ORPHA:261552
HP:0001939	Abnormality of metabolism/homeostasis	9839	ZEB2	ORPHA:261537
HP:0001939	Abnormality of metabolism/homeostasis	4478	MSN	OMIM:300988
HP:0001939	Abnormality of metabolism/homeostasis	146206	CARMIL2	OMIM:618131
HP:0001939	Abnormality of metabolism/homeostasis	3070	HELLS	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	3070	HELLS	OMIM:616911
HP:0001939	Abnormality of metabolism/homeostasis	83879	CDCA7	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	83879	CDCA7	OMIM:616910
HP:0001939	Abnormality of metabolism/homeostasis	8742	TNFSF12	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	931	MS4A1	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	975	CD81	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	57217	TTC7A	OMIM:243150
HP:0001939	Abnormality of metabolism/homeostasis	9508	ADAMTS3	ORPHA:2136
HP:0001939	Abnormality of metabolism/homeostasis	79633	FAT4	ORPHA:2136
HP:0001939	Abnormality of metabolism/homeostasis	493856	CISD2	OMIM:604928
HP:0001939	Abnormality of metabolism/homeostasis	6117	RPA1	OMIM:619767
HP:0001939	Abnormality of metabolism/homeostasis	4938	OAS1	OMIM:618042
HP:0001939	Abnormality of metabolism/homeostasis	9939	RBM8A	OMIM:274000
HP:0001939	Abnormality of metabolism/homeostasis	1604	CD55	OMIM:226300
HP:0001939	Abnormality of metabolism/homeostasis	219285	SAMD9L	ORPHA:2585
HP:0001939	Abnormality of metabolism/homeostasis	4796	TONSL	OMIM:271510
HP:0001939	Abnormality of metabolism/homeostasis	1457	CSNK2A1	OMIM:617062
HP:0001939	Abnormality of metabolism/homeostasis	57379	AICDA	OMIM:605258
HP:0001939	Abnormality of metabolism/homeostasis	374354	NHLRC2	OMIM:618278
HP:0001939	Abnormality of metabolism/homeostasis	59067	IL21	OMIM:615767
HP:0001939	Abnormality of metabolism/homeostasis	65082	VPS33A	ORPHA:505248
HP:0001939	Abnormality of metabolism/homeostasis	6651	SON	ORPHA:500150
HP:0001939	Abnormality of metabolism/homeostasis	7852	CXCR4	OMIM:193670
HP:0001939	Abnormality of metabolism/homeostasis	3431	SP110	OMIM:235550
HP:0001939	Abnormality of metabolism/homeostasis	51311	TLR8	OMIM:301078
HP:0001939	Abnormality of metabolism/homeostasis	7374	UNG	OMIM:608106
HP:0001939	Abnormality of metabolism/homeostasis	8884	SLC5A6	OMIM:618973
HP:0001939	Abnormality of metabolism/homeostasis	84888	SPPL2A	OMIM:619549
HP:0001939	Abnormality of metabolism/homeostasis	6898	TAT	ORPHA:28378
HP:0001939	Abnormality of metabolism/homeostasis	57192	MCOLN1	ORPHA:578
HP:0001939	Abnormality of metabolism/homeostasis	57192	MCOLN1	OMIM:252650
HP:0001939	Abnormality of metabolism/homeostasis	6531	SLC6A3	ORPHA:238455
HP:0001939	Abnormality of metabolism/homeostasis	6575	SLC20A2	OMIM:213600
HP:0001939	Abnormality of metabolism/homeostasis	5155	PDGFB	OMIM:213600
HP:0001939	Abnormality of metabolism/homeostasis	1185	CLCN6	OMIM:619173
HP:0001939	Abnormality of metabolism/homeostasis	8929	PHOX2B	OMIM:209880
HP:0001939	Abnormality of metabolism/homeostasis	84818	IL17RC	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	64581	CLEC7A	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	10758	TRAF3IP2	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	112744	IL17F	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276238
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276244
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276241
HP:0001939	Abnormality of metabolism/homeostasis	6926	TBX3	ORPHA:3138
HP:0001939	Abnormality of metabolism/homeostasis	633	BGN	OMIM:300106
HP:0001939	Abnormality of metabolism/homeostasis	6452	SH3BP2	OMIM:118400
HP:0001939	Abnormality of metabolism/homeostasis	5281	PIGF	OMIM:619356
HP:0001939	Abnormality of metabolism/homeostasis	7922	SLC39A7	OMIM:619693
HP:0001939	Abnormality of metabolism/homeostasis	1678	TIMM8A	ORPHA:52368
HP:0001939	Abnormality of metabolism/homeostasis	4868	NPHS1	ORPHA:839
HP:0001939	Abnormality of metabolism/homeostasis	5631	PRPS1	ORPHA:423479
HP:0001939	Abnormality of metabolism/homeostasis	54903	MKS1	OMIM:249000
HP:0001939	Abnormality of metabolism/homeostasis	53630	BCO1	OMIM:115300
HP:0001939	Abnormality of metabolism/homeostasis	4615	MYD88	ORPHA:33226
HP:0001939	Abnormality of metabolism/homeostasis	4615	MYD88	OMIM:153600
HP:0001939	Abnormality of metabolism/homeostasis	3827	KNG1	OMIM:228960
HP:0001939	Abnormality of metabolism/homeostasis	3766	KCNJ10	ORPHA:199343
HP:0001939	Abnormality of metabolism/homeostasis	476	ATP1A1	OMIM:618314
HP:0001939	Abnormality of metabolism/homeostasis	476	ATP1A1	ORPHA:564178
HP:0001939	Abnormality of metabolism/homeostasis	10686	CLDN16	OMIM:248250
HP:0001939	Abnormality of metabolism/homeostasis	486	FXYD2	OMIM:154020
HP:0001939	Abnormality of metabolism/homeostasis	55764	IFT122	OMIM:218330
HP:0001939	Abnormality of metabolism/homeostasis	5105	PCK1	OMIM:261680
HP:0001939	Abnormality of metabolism/homeostasis	6584	SLC22A5	OMIM:212140
HP:0001939	Abnormality of metabolism/homeostasis	5106	PCK2	OMIM:261650
HP:0001939	Abnormality of metabolism/homeostasis	445	ASS1	OMIM:215700
HP:0001939	Abnormality of metabolism/homeostasis	5832	ALDH18A1	OMIM:219150
HP:0001939	Abnormality of metabolism/homeostasis	1621	DBH	OMIM:223360
HP:0001939	Abnormality of metabolism/homeostasis	6261	RYR1	OMIM:145600
HP:0001939	Abnormality of metabolism/homeostasis	283446	MYO1H	OMIM:619482
HP:0001939	Abnormality of metabolism/homeostasis	2215	FCGR3B	ORPHA:464370
HP:0001939	Abnormality of metabolism/homeostasis	440138	ALG11	ORPHA:280071
HP:0001939	Abnormality of metabolism/homeostasis	440138	ALG11	OMIM:613661
HP:0001939	Abnormality of metabolism/homeostasis	6571	SLC18A2	OMIM:618049
HP:0001939	Abnormality of metabolism/homeostasis	55823	VPS11	OMIM:616683
HP:0001939	Abnormality of metabolism/homeostasis	2260	FGFR1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2260	FGFR1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	10735	STAG2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	10735	STAG2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	8243	SMC1A	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	6469	SHH	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6469	SHH	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6469	SHH	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6469	SHH	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	54551	MAGEL2	ORPHA:398069
HP:0001939	Abnormality of metabolism/homeostasis	54551	MAGEL2	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	55164	SHQ1	OMIM:619922
HP:0001939	Abnormality of metabolism/homeostasis	23007	PLCH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	1644	DDC	OMIM:608643
HP:0001939	Abnormality of metabolism/homeostasis	2581	GALC	ORPHA:206436
HP:0001939	Abnormality of metabolism/homeostasis	5660	PSAP	ORPHA:206436
HP:0001939	Abnormality of metabolism/homeostasis	8398	PLA2G6	ORPHA:35069
HP:0001939	Abnormality of metabolism/homeostasis	4001	LMNB1	ORPHA:99027
HP:0001939	Abnormality of metabolism/homeostasis	7681	MKRN3	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	3653	IPW	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	791114	PWRN1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	100033413	SNORD116-1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	8924	HERC2	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	145624	PWAR1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	23742	NPAP1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	338433	SNORD115-1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	6697	SPR	ORPHA:70594
HP:0001939	Abnormality of metabolism/homeostasis	3675	ITGA3	OMIM:614748
HP:0001939	Abnormality of metabolism/homeostasis	229	ALDOB	OMIM:229600
HP:0001939	Abnormality of metabolism/homeostasis	38	ACAT1	OMIM:203750
HP:0001939	Abnormality of metabolism/homeostasis	5019	OXCT1	OMIM:245050
HP:0001939	Abnormality of metabolism/homeostasis	1537	CYC1	OMIM:615453
HP:0001939	Abnormality of metabolism/homeostasis	6473	SHOX	ORPHA:314795
HP:0001939	Abnormality of metabolism/homeostasis	27130	INVS	OMIM:602088
HP:0001939	Abnormality of metabolism/homeostasis	54938	SARS2	OMIM:613845
HP:0001939	Abnormality of metabolism/homeostasis	6927	HNF1A	OMIM:600496
HP:0001939	Abnormality of metabolism/homeostasis	6927	HNF1A	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	7840	ALMS1	ORPHA:64
HP:0001939	Abnormality of metabolism/homeostasis	92840	REEP6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6094	ROM1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6017	RLBP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7401	CLRN1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	24	ABCA4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	130557	ZNF513	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	582	BBS1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	92211	CDHR1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23568	ARL2BP	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6121	RPE65	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	54806	AHI1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6101	RP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3419	IDH3A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4751	NEK2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	346007	EYS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8100	IFT88	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23020	SNRNP200	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	762	CA4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	138050	HGSNAT	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	196	AHR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3614	IMPDH1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	123016	TTC8	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6103	RPGR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1406	CRX	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5148	PDE6G	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	26160	IFT172	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	26121	PRPF31	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	583	BBS2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4117	MAK	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	25794	FSCN2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	375298	CERKL	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3420	IDH3B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	57670	KIAA1549	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7275	TUB	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	24148	PRPF6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23418	CRB1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10461	MERTK	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	57709	SLC7A14	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	768206	PRCD	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7399	USH2A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23370	ARHGEF18	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5949	RBP3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6010	RHO	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6100	RP9	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10002	NR2E3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9227	LRAT	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	84140	FAM161A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55812	SPATA7	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55624	POMGNT1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	79797	ZNF408	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	403	ARL3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5145	PDE6A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10210	TOPORS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8842	PROM1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9128	PRPF4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	145226	RDH12	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	50939	IMPG2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8481	OFD1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	49855	SCAPER	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9742	IFT140	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	2979	GUCA1B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1259	CNGA1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1258	CNGB1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	60509	AGBL5	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5961	PRPH2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	388939	PCARE	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7439	BEST1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9785	DHX38	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7287	TULP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5995	RGR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9129	PRPF3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55975	KLHL7	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3617	IMPG1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	94137	RP1L1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5158	PDE6B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6102	RP2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55857	KIZ	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	64218	SEMA4A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4901	NRL	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	157657	CFAP418	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10594	PRPF8	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	84100	ARL6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6295	SAG	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	79947	DHDDS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	63036	CELA2A	OMIM:618620
HP:0001939	Abnormality of metabolism/homeostasis	23312	DMXL2	ORPHA:453533
HP:0001939	Abnormality of metabolism/homeostasis	26580	BSCL2	OMIM:269700
HP:0001939	Abnormality of metabolism/homeostasis	4160	MC4R	ORPHA:71529
HP:0001939	Abnormality of metabolism/homeostasis	3651	PDX1	OMIM:606392
HP:0001939	Abnormality of metabolism/homeostasis	3651	PDX1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	389692	MAFA	OMIM:147630
HP:0001939	Abnormality of metabolism/homeostasis	5566	PRKACA	ORPHA:189439
HP:0001939	Abnormality of metabolism/homeostasis	8622	PDE8B	ORPHA:189439
HP:0001939	Abnormality of metabolism/homeostasis	5573	PRKAR1A	ORPHA:189439
HP:0001939	Abnormality of metabolism/homeostasis	50940	PDE11A	ORPHA:189439
HP:0001939	Abnormality of metabolism/homeostasis	10908	PNPLA6	ORPHA:2377
HP:0001939	Abnormality of metabolism/homeostasis	6804	STX1A	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	7461	CLIP2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	84277	DNAJC30	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	8468	FKBP6	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	5982	RFC2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	2969	GTF2I	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	3984	LIMK1	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	155382	VPS37D	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	155368	METTL27	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	114049	BUD23	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	7458	EIF4H	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	9275	BCL7B	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	26608	TBL2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	653361	NCF1	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	135886	TMEM270	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	51085	MLXIPL	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	9031	BAZ1B	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	2006	ELN	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	3643	INSR	ORPHA:2297
HP:0001939	Abnormality of metabolism/homeostasis	7068	THRB	OMIM:274300
HP:0001939	Abnormality of metabolism/homeostasis	7518	XRCC4	ORPHA:99812
HP:0001939	Abnormality of metabolism/homeostasis	3981	LIG4	ORPHA:99812
HP:0001939	Abnormality of metabolism/homeostasis	3981	LIG4	OMIM:606593
HP:0001939	Abnormality of metabolism/homeostasis	7486	WRN	ORPHA:902
HP:0001939	Abnormality of metabolism/homeostasis	4556	MT-TE	ORPHA:225
HP:0001939	Abnormality of metabolism/homeostasis	4040	LRP6	OMIM:610947
HP:0001939	Abnormality of metabolism/homeostasis	8462	KLF11	OMIM:610508
HP:0001939	Abnormality of metabolism/homeostasis	472	ATM	ORPHA:100
HP:0001939	Abnormality of metabolism/homeostasis	7555	CNBP	OMIM:602668
HP:0001939	Abnormality of metabolism/homeostasis	5468	PPARG	OMIM:604367
HP:0001939	Abnormality of metabolism/homeostasis	5468	PPARG	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	6934	TCF7L2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	2645	GCK	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	2645	GCK	ORPHA:79299
HP:0001939	Abnormality of metabolism/homeostasis	3569	IL6	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3990	LIPC	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	9479	MAPK8IP1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	56729	RETN	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	4544	MTNR1B	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5506	PPP1R3A	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	7466	WFS1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	7466	WFS1	OMIM:614296
HP:0001939	Abnormality of metabolism/homeostasis	208	AKT2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	6833	ABCC8	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	6833	ABCC8	OMIM:610374
HP:0001939	Abnormality of metabolism/homeostasis	10644	IGF2BP2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5167	ENPP1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5770	PTPN1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	8660	IRS2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3159	HMGA1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5078	PAX4	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	6928	HNF1B	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3667	IRS1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	4760	NEUROD1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	169026	SLC30A8	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	2820	GPD2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3767	KCNJ11	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	6514	SLC2A2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	641	BLM	OMIM:210900
HP:0001939	Abnormality of metabolism/homeostasis	6492	SIM1	ORPHA:398079
HP:0001939	Abnormality of metabolism/homeostasis	1363	CPE	OMIM:619326
HP:0001939	Abnormality of metabolism/homeostasis	5422	POLA1	ORPHA:163976
HP:0001939	Abnormality of metabolism/homeostasis	4221	MEN1	ORPHA:99725
HP:0001939	Abnormality of metabolism/homeostasis	9049	AIP	ORPHA:99725
HP:0001939	Abnormality of metabolism/homeostasis	1786	DNMT1	OMIM:604121
HP:0001939	Abnormality of metabolism/homeostasis	11128	POLR3A	ORPHA:3455
HP:0001939	Abnormality of metabolism/homeostasis	2642	GCGR	OMIM:619290
HP:0001939	Abnormality of metabolism/homeostasis	51218	GLRX5	OMIM:616860
HP:0001939	Abnormality of metabolism/homeostasis	2200	FBN1	ORPHA:2833
HP:0001939	Abnormality of metabolism/homeostasis	10273	STUB1	ORPHA:412057
HP:0001939	Abnormality of metabolism/homeostasis	9149	DYRK1B	OMIM:615812
HP:0001939	Abnormality of metabolism/homeostasis	847	CAT	ORPHA:926
HP:0001939	Abnormality of metabolism/homeostasis	367	AR	ORPHA:481
HP:0001939	Abnormality of metabolism/homeostasis	4340	MOG	OMIM:614250
HP:0001939	Abnormality of metabolism/homeostasis	4000	LMNA	OMIM:151660
HP:0001939	Abnormality of metabolism/homeostasis	4000	LMNA	ORPHA:79474
HP:0001939	Abnormality of metabolism/homeostasis	833	CARS1	OMIM:618891
HP:0001939	Abnormality of metabolism/homeostasis	64788	LMF1	OMIM:246650
HP:0001939	Abnormality of metabolism/homeostasis	5333	PLCD1	ORPHA:2387
HP:0001939	Abnormality of metabolism/homeostasis	84984	CEP19	OMIM:615703
HP:0001939	Abnormality of metabolism/homeostasis	5116	PCNT	OMIM:210720
HP:0001939	Abnormality of metabolism/homeostasis	25942	SIN3A	OMIM:613406
HP:0001939	Abnormality of metabolism/homeostasis	1188	CLCNKB	ORPHA:358
HP:0001939	Abnormality of metabolism/homeostasis	6559	SLC12A3	ORPHA:358
HP:0001939	Abnormality of metabolism/homeostasis	5192	PEX10	ORPHA:247815
HP:0001939	Abnormality of metabolism/homeostasis	1588	CYP19A1	ORPHA:91
HP:0001939	Abnormality of metabolism/homeostasis	1499	CTNNB1	ORPHA:54595
HP:0001939	Abnormality of metabolism/homeostasis	673	BRAF	ORPHA:54595
HP:0001939	Abnormality of metabolism/homeostasis	686	BTD	OMIM:253260
HP:0001939	Abnormality of metabolism/homeostasis	686	BTD	ORPHA:79241
HP:0001939	Abnormality of metabolism/homeostasis	4594	MMUT	OMIM:251000
HP:0001939	Abnormality of metabolism/homeostasis	5053	PAH	OMIM:261600
HP:0001939	Abnormality of metabolism/homeostasis	5339	PLEC	OMIM:226730
HP:0001939	Abnormality of metabolism/homeostasis	3691	ITGB4	OMIM:226730
HP:0001939	Abnormality of metabolism/homeostasis	4233	MET	ORPHA:33402
HP:0001939	Abnormality of metabolism/homeostasis	10397	NDRG1	OMIM:601455
HP:0001939	Abnormality of metabolism/homeostasis	4638	MYLK	OMIM:249210
HP:0001939	Abnormality of metabolism/homeostasis	54916	TMEM260	OMIM:617478
HP:0001939	Abnormality of metabolism/homeostasis	10203	CALCRL	OMIM:618773
HP:0001939	Abnormality of metabolism/homeostasis	2324	FLT4	OMIM:153100
HP:0001939	Abnormality of metabolism/homeostasis	9373	PLAA	ORPHA:521426
HP:0001939	Abnormality of metabolism/homeostasis	131377	KLHL40	ORPHA:171430
HP:0001939	Abnormality of metabolism/homeostasis	56203	LMOD3	ORPHA:171430
HP:0001939	Abnormality of metabolism/homeostasis	29929	ALG6	OMIM:603147
HP:0001939	Abnormality of metabolism/homeostasis	2990	GUSB	ORPHA:584
HP:0001939	Abnormality of metabolism/homeostasis	59341	TRPV4	OMIM:184095
HP:0001939	Abnormality of metabolism/homeostasis	5286	PIK3C2A	OMIM:618440
HP:0001939	Abnormality of metabolism/homeostasis	3425	IDUA	ORPHA:93474
HP:0001939	Abnormality of metabolism/homeostasis	3425	IDUA	ORPHA:93473
HP:0001939	Abnormality of metabolism/homeostasis	64241	ABCG8	OMIM:210250
HP:0001939	Abnormality of metabolism/homeostasis	2746	GLUD1	ORPHA:35878
HP:0001939	Abnormality of metabolism/homeostasis	2746	GLUD1	OMIM:606762
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	OMIM:253010
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	OMIM:230650
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	OMIM:230500
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	OMIM:230600
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	ORPHA:79255
HP:0001939	Abnormality of metabolism/homeostasis	5476	CTSA	OMIM:256540
HP:0001939	Abnormality of metabolism/homeostasis	3295	HSD17B4	OMIM:261515
HP:0001939	Abnormality of metabolism/homeostasis	91452	ACBD5	OMIM:618863
HP:0001939	Abnormality of metabolism/homeostasis	54658	UGT1A1	OMIM:237900
HP:0001939	Abnormality of metabolism/homeostasis	7072	TIA1	OMIM:604454
HP:0001939	Abnormality of metabolism/homeostasis	7072	TIA1	ORPHA:603
HP:0001939	Abnormality of metabolism/homeostasis	79784	MYH14	ORPHA:397744
HP:0001939	Abnormality of metabolism/homeostasis	79784	MYH14	OMIM:614369
HP:0001939	Abnormality of metabolism/homeostasis	2673	GFPT1	OMIM:610542
HP:0001939	Abnormality of metabolism/homeostasis	4568	MT-TL2	ORPHA:663
HP:0001939	Abnormality of metabolism/homeostasis	54870	QRICH1	OMIM:617982
HP:0001939	Abnormality of metabolism/homeostasis	1299	COL9A3	OMIM:600969
HP:0001939	Abnormality of metabolism/homeostasis	10730	YME1L1	OMIM:617302
HP:0001939	Abnormality of metabolism/homeostasis	10342	TFG	OMIM:604484
HP:0001939	Abnormality of metabolism/homeostasis	122622	ADSS1	OMIM:617030
HP:0001939	Abnormality of metabolism/homeostasis	57449	PLEKHG5	OMIM:615376
HP:0001939	Abnormality of metabolism/homeostasis	7415	VCP	ORPHA:329478
HP:0001939	Abnormality of metabolism/homeostasis	55681	SCYL2	ORPHA:1143
HP:0001939	Abnormality of metabolism/homeostasis	57222	ERGIC1	ORPHA:1143
HP:0001939	Abnormality of metabolism/homeostasis	85365	ALG2	OMIM:616228
HP:0001939	Abnormality of metabolism/homeostasis	8878	SQSTM1	ORPHA:603
HP:0001939	Abnormality of metabolism/homeostasis	9782	MATR3	ORPHA:600
HP:0001939	Abnormality of metabolism/homeostasis	5442	POLRMT	OMIM:619743
HP:0001939	Abnormality of metabolism/homeostasis	79147	FKRP	ORPHA:370980
HP:0001939	Abnormality of metabolism/homeostasis	2218	FKTN	ORPHA:370980
HP:0001939	Abnormality of metabolism/homeostasis	729920	CRPPA	ORPHA:370980
HP:0001939	Abnormality of metabolism/homeostasis	10585	POMT1	ORPHA:370980
HP:0001939	Abnormality of metabolism/homeostasis	9325	TRIP4	ORPHA:486815
HP:0001939	Abnormality of metabolism/homeostasis	285489	DOK7	OMIM:254300
HP:0001939	Abnormality of metabolism/homeostasis	3483	IGFALS	OMIM:615961
HP:0001939	Abnormality of metabolism/homeostasis	8085	KMT2D	OMIM:620186
HP:0001939	Abnormality of metabolism/homeostasis	3664	IRF6	ORPHA:1300
HP:0001939	Abnormality of metabolism/homeostasis	153642	ARSK	OMIM:619698
HP:0001939	Abnormality of metabolism/homeostasis	411	ARSB	OMIM:253200
HP:0001939	Abnormality of metabolism/homeostasis	1441	CSF3R	OMIM:162830
HP:0001939	Abnormality of metabolism/homeostasis	6687	SPG7	ORPHA:99013
HP:0001939	Abnormality of metabolism/homeostasis	2521	FUS	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	23435	TARDBP	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	1763	DNA2	ORPHA:352470
HP:0001939	Abnormality of metabolism/homeostasis	28958	COA3	OMIM:619058
HP:0001939	Abnormality of metabolism/homeostasis	493753	COA5	OMIM:616500
HP:0001939	Abnormality of metabolism/homeostasis	64432	MRPS25	OMIM:619025
HP:0001939	Abnormality of metabolism/homeostasis	5213	PFKM	OMIM:232800
HP:0001939	Abnormality of metabolism/homeostasis	5213	PFKM	ORPHA:371
HP:0001939	Abnormality of metabolism/homeostasis	55687	TRMU	ORPHA:254864
HP:0001939	Abnormality of metabolism/homeostasis	2027	ENO3	OMIM:612932
HP:0001939	Abnormality of metabolism/homeostasis	57190	SELENON	ORPHA:324604
HP:0001939	Abnormality of metabolism/homeostasis	4625	MYH7	ORPHA:324604
HP:0001939	Abnormality of metabolism/homeostasis	58	ACTA1	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	7169	TPM2	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	390594	KBTBD13	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	10324	KLHL41	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	7170	TPM3	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	1303	COL12A1	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1291	COL6A1	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1292	COL6A2	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1293	COL6A3	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	84570	COL25A1	ORPHA:91411
HP:0001939	Abnormality of metabolism/homeostasis	79776	ZFHX4	ORPHA:91411
HP:0001939	Abnormality of metabolism/homeostasis	81839	VANGL1	ORPHA:3027
HP:0001939	Abnormality of metabolism/homeostasis	80199	FUZ	ORPHA:3027
HP:0001939	Abnormality of metabolism/homeostasis	6657	SOX2	ORPHA:3157
HP:0001939	Abnormality of metabolism/homeostasis	4125	MAN2B1	ORPHA:309282
HP:0001939	Abnormality of metabolism/homeostasis	4125	MAN2B1	ORPHA:309288
HP:0001939	Abnormality of metabolism/homeostasis	1161	ERCC8	OMIM:614621
HP:0001939	Abnormality of metabolism/homeostasis	2235	FECH	ORPHA:79278
HP:0001939	Abnormality of metabolism/homeostasis	4883	NPR3	OMIM:619543
HP:0001939	Abnormality of metabolism/homeostasis	940	CD28	ORPHA:3162
HP:0001939	Abnormality of metabolism/homeostasis	7133	TNFRSF1B	ORPHA:3162
HP:0001939	Abnormality of metabolism/homeostasis	727897	MUC5B	OMIM:178500
HP:0001939	Abnormality of metabolism/homeostasis	729238	SFTPA2	OMIM:178500
HP:0001939	Abnormality of metabolism/homeostasis	11311	VPS45	OMIM:615285
HP:0001939	Abnormality of metabolism/homeostasis	57057	TBX20	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	10370	CITED2	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	2626	GATA4	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	9158	FIBP	OMIM:617107
HP:0001939	Abnormality of metabolism/homeostasis	1009	CDH11	ORPHA:1299
HP:0001939	Abnormality of metabolism/homeostasis	9509	ADAMTS2	OMIM:225410
HP:0001939	Abnormality of metabolism/homeostasis	1439	CSF2RB	ORPHA:264675
HP:0001939	Abnormality of metabolism/homeostasis	1438	CSF2RA	ORPHA:264675
HP:0001939	Abnormality of metabolism/homeostasis	23476	BRD4	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	9126	SMC3	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	25836	NIPBL	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	55869	HDAC8	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	5885	RAD21	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	699	BUB1	OMIM:620183
HP:0001939	Abnormality of metabolism/homeostasis	699	BUB1	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	1725	DHPS	OMIM:618480
HP:0001939	Abnormality of metabolism/homeostasis	9321	TRIP11	OMIM:200600
HP:0001939	Abnormality of metabolism/homeostasis	104	ADARB1	OMIM:618862
HP:0001939	Abnormality of metabolism/homeostasis	4593	MUSK	OMIM:208150
HP:0001939	Abnormality of metabolism/homeostasis	8216	LZTR1	OMIM:616564
HP:0001939	Abnormality of metabolism/homeostasis	8216	LZTR1	OMIM:605275
HP:0001939	Abnormality of metabolism/homeostasis	29895	MYL11	OMIM:619110
HP:0001939	Abnormality of metabolism/homeostasis	10274	STAG1	OMIM:617635
HP:0001939	Abnormality of metabolism/homeostasis	2261	FGFR3	ORPHA:1860
HP:0001939	Abnormality of metabolism/homeostasis	2261	FGFR3	ORPHA:93274
HP:0001939	Abnormality of metabolism/homeostasis	79770	TXNDC15	OMIM:619879
HP:0001939	Abnormality of metabolism/homeostasis	415	ARSL	ORPHA:79345
HP:0001939	Abnormality of metabolism/homeostasis	83475	DOHH	OMIM:620066
HP:0001939	Abnormality of metabolism/homeostasis	23556	PIGN	ORPHA:280633
HP:0001939	Abnormality of metabolism/homeostasis	9896	FIG4	ORPHA:3472
HP:0001939	Abnormality of metabolism/homeostasis	55697	VAC14	ORPHA:3472
HP:0001939	Abnormality of metabolism/homeostasis	9184	BUB3	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	9702	CEP57	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	701	BUB1B	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	1822	ATN1	OMIM:618494
HP:0001939	Abnormality of metabolism/homeostasis	55790	CSGALNACT1	OMIM:618870
HP:0001939	Abnormality of metabolism/homeostasis	10082	GPC6	ORPHA:93329
HP:0001939	Abnormality of metabolism/homeostasis	1717	DHCR7	ORPHA:818
HP:0001939	Abnormality of metabolism/homeostasis	168667	BMPER	OMIM:608022
HP:0001939	Abnormality of metabolism/homeostasis	10295	BCKDK	OMIM:614923
HP:0001939	Abnormality of metabolism/homeostasis	1757	SARDH	ORPHA:3129
HP:0001939	Abnormality of metabolism/homeostasis	1757	SARDH	OMIM:268900
HP:0001939	Abnormality of metabolism/homeostasis	6888	TALDO1	ORPHA:101028
HP:0001939	Abnormality of metabolism/homeostasis	3034	HAL	OMIM:235800
HP:0001939	Abnormality of metabolism/homeostasis	3034	HAL	ORPHA:2157
HP:0001939	Abnormality of metabolism/homeostasis	10367	MICU1	OMIM:615673
HP:0001939	Abnormality of metabolism/homeostasis	152926	PPM1K	OMIM:615135
HP:0001939	Abnormality of metabolism/homeostasis	1738	DLD	ORPHA:2394
HP:0001939	Abnormality of metabolism/homeostasis	587	BCAT2	OMIM:618850
HP:0001939	Abnormality of metabolism/homeostasis	506	ATP5F1B	OMIM:620085
HP:0001939	Abnormality of metabolism/homeostasis	3242	HPD	ORPHA:2118
HP:0001939	Abnormality of metabolism/homeostasis	191	AHCY	ORPHA:88618
HP:0001939	Abnormality of metabolism/homeostasis	7498	XDH	OMIM:278300
HP:0001939	Abnormality of metabolism/homeostasis	3795	KHK	ORPHA:2056
HP:0001939	Abnormality of metabolism/homeostasis	8314	BAP1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	4771	NF2	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6598	SMARCB1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	84231	TRAF7	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6608	SMO	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	207	AKT1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	5290	PIK3CA	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	51684	SUFU	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6605	SMARCE1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	7156	TOP3A	OMIM:618097
HP:0001939	Abnormality of metabolism/homeostasis	9180	OSMR	OMIM:105250
HP:0001939	Abnormality of metabolism/homeostasis	1471	CST3	ORPHA:100008
HP:0001939	Abnormality of metabolism/homeostasis	4361	MRE11	OMIM:604391
HP:0001939	Abnormality of metabolism/homeostasis	3689	ITGB2	OMIM:116920
HP:0001939	Abnormality of metabolism/homeostasis	3105	HLA-A	ORPHA:179
HP:0001939	Abnormality of metabolism/homeostasis	5959	RDH5	ORPHA:52427
HP:0001939	Abnormality of metabolism/homeostasis	83552	MFRP	OMIM:611040
HP:0001939	Abnormality of metabolism/homeostasis	285440	CYP4V2	ORPHA:41751
HP:0001939	Abnormality of metabolism/homeostasis	4338	MOCS2	OMIM:252160
HP:0001939	Abnormality of metabolism/homeostasis	55034	MOCOS	OMIM:603592
HP:0001939	Abnormality of metabolism/homeostasis	9200	HACD1	OMIM:619967
HP:0001939	Abnormality of metabolism/homeostasis	51102	MECR	ORPHA:508093
HP:0001939	Abnormality of metabolism/homeostasis	92667	MGME1	OMIM:615084
HP:0001939	Abnormality of metabolism/homeostasis	55037	PTCD3	OMIM:619057
HP:0001939	Abnormality of metabolism/homeostasis	122961	ISCA2	OMIM:616370
HP:0001939	Abnormality of metabolism/homeostasis	60528	ELAC2	OMIM:615440
HP:0001939	Abnormality of metabolism/homeostasis	51649	MRPS23	OMIM:618952
HP:0001939	Abnormality of metabolism/homeostasis	54802	TRIT1	OMIM:617873
HP:0001939	Abnormality of metabolism/homeostasis	4713	NDUFB7	OMIM:620135
HP:0001939	Abnormality of metabolism/homeostasis	54902	TTC19	OMIM:615157
HP:0001939	Abnormality of metabolism/homeostasis	125170	MIEF2	OMIM:619024
HP:0001939	Abnormality of metabolism/homeostasis	514	ATP5F1E	OMIM:614053
HP:0001939	Abnormality of metabolism/homeostasis	9197	SLC33A1	OMIM:614482
HP:0001939	Abnormality of metabolism/homeostasis	5664	PSEN2	OMIM:606889
HP:0001939	Abnormality of metabolism/homeostasis	351	APP	OMIM:605714
HP:0001939	Abnormality of metabolism/homeostasis	351	APP	ORPHA:100006
HP:0001939	Abnormality of metabolism/homeostasis	9445	ITM2B	OMIM:176500
HP:0001939	Abnormality of metabolism/homeostasis	9445	ITM2B	OMIM:117300
HP:0001939	Abnormality of metabolism/homeostasis	4613	MYCN	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	7153	TOP2A	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	238	ALK	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	389421	LIN28B	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	4004	LMO1	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	57531	HACE1	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	83959	SLC4A11	ORPHA:293603
HP:0001939	Abnormality of metabolism/homeostasis	6935	ZEB1	OMIM:613270
HP:0001939	Abnormality of metabolism/homeostasis	6935	ZEB1	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	7010	TEK	OMIM:617272
HP:0001939	Abnormality of metabolism/homeostasis	1296	COL8A2	OMIM:136800
HP:0001939	Abnormality of metabolism/homeostasis	1296	COL8A2	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	30813	VSX1	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	58495	OVOL2	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	79977	GRHL2	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	4126	MANBA	OMIM:248510
HP:0001939	Abnormality of metabolism/homeostasis	2588	GALNS	OMIM:253000
HP:0001939	Abnormality of metabolism/homeostasis	57393	CLTRN	ORPHA:2116
HP:0001939	Abnormality of metabolism/homeostasis	56947	MFF	ORPHA:485421
HP:0001939	Abnormality of metabolism/homeostasis	2232	FDXR	ORPHA:543470
HP:0001939	Abnormality of metabolism/homeostasis	4907	NT5E	ORPHA:289601
HP:0001939	Abnormality of metabolism/homeostasis	5130	PCYT1A	ORPHA:85167
HP:0001939	Abnormality of metabolism/homeostasis	2214	FCGR3A	OMIM:615707
HP:0001939	Abnormality of metabolism/homeostasis	8546	AP3B1	OMIM:608233
HP:0001939	Abnormality of metabolism/homeostasis	10845	CLPX	OMIM:618015
HP:0001939	Abnormality of metabolism/homeostasis	9414	TJP2	OMIM:607748
HP:0001939	Abnormality of metabolism/homeostasis	5205	ATP8B1	OMIM:243300
HP:0001939	Abnormality of metabolism/homeostasis	5205	ATP8B1	ORPHA:69665
HP:0001939	Abnormality of metabolism/homeostasis	55610	VPS50	OMIM:619685
HP:0001939	Abnormality of metabolism/homeostasis	57003	CCDC47	OMIM:618268
HP:0001939	Abnormality of metabolism/homeostasis	8482	SEMA7A	OMIM:619874
HP:0001939	Abnormality of metabolism/homeostasis	8647	ABCB11	ORPHA:69665
HP:0001939	Abnormality of metabolism/homeostasis	5498	PPOX	OMIM:176200
HP:0001939	Abnormality of metabolism/homeostasis	5498	PPOX	ORPHA:79473
HP:0001939	Abnormality of metabolism/homeostasis	2517	FUCA1	OMIM:230000
HP:0001939	Abnormality of metabolism/homeostasis	2947	GSTM3	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	7040	TGFB1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	7040	TGFB1	OMIM:219700
HP:0001939	Abnormality of metabolism/homeostasis	1084	CEACAM3	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	6556	SLC11A1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	51164	DCTN4	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	3783	KCNN4	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	4282	MIF	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	1909	EDNRA	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	6550	SLC9A3	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	3162	HMOX1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	115019	SLC26A9	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	3077	HFE	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	11254	SLC6A14	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	5265	SERPINA1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	1080	CFTR	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	1080	CFTR	OMIM:211400
HP:0001939	Abnormality of metabolism/homeostasis	1080	CFTR	OMIM:219700
HP:0001939	Abnormality of metabolism/homeostasis	22802	CLCA4	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	4680	CEACAM6	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	5406	PNLIP	OMIM:614338
HP:0001939	Abnormality of metabolism/homeostasis	6338	SCNN1B	OMIM:211400
HP:0001939	Abnormality of metabolism/homeostasis	2212	FCGR2A	OMIM:219700
HP:0001939	Abnormality of metabolism/homeostasis	10551	AGR2	OMIM:620233
HP:0001939	Abnormality of metabolism/homeostasis	771	CA12	OMIM:143860
HP:0001939	Abnormality of metabolism/homeostasis	6337	SCNN1A	OMIM:613021
HP:0001939	Abnormality of metabolism/homeostasis	131669	UROC1	OMIM:276880
HP:0001939	Abnormality of metabolism/homeostasis	131669	UROC1	ORPHA:210128
HP:0001939	Abnormality of metabolism/homeostasis	344	APOC2	OMIM:207750
HP:0001939	Abnormality of metabolism/homeostasis	338328	GPIHBP1	OMIM:615947
HP:0001939	Abnormality of metabolism/homeostasis	7018	TF	OMIM:209300
HP:0001939	Abnormality of metabolism/homeostasis	1339	COX6A2	OMIM:619062
HP:0001939	Abnormality of metabolism/homeostasis	6329	SCN4A	ORPHA:681
HP:0001939	Abnormality of metabolism/homeostasis	779	CACNA1S	ORPHA:681
HP:0001939	Abnormality of metabolism/homeostasis	779	CACNA1S	ORPHA:79102
HP:0001939	Abnormality of metabolism/homeostasis	10008	KCNE3	ORPHA:681
HP:0001939	Abnormality of metabolism/homeostasis	51099	ABHD5	ORPHA:98907
HP:0001939	Abnormality of metabolism/homeostasis	57104	PNPLA2	ORPHA:98908
HP:0001939	Abnormality of metabolism/homeostasis	10939	AFG3L2	OMIM:614487
HP:0001939	Abnormality of metabolism/homeostasis	400916	CHCHD10	ORPHA:457050
HP:0001939	Abnormality of metabolism/homeostasis	55154	MSTO1	ORPHA:502423
HP:0001939	Abnormality of metabolism/homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0001939	Abnormality of metabolism/homeostasis	2556	GABRA3	ORPHA:79102
HP:0001939	Abnormality of metabolism/homeostasis	23479	ISCU	OMIM:255125
HP:0001939	Abnormality of metabolism/homeostasis	2997	GYS1	OMIM:611556
HP:0001939	Abnormality of metabolism/homeostasis	2992	GYG1	ORPHA:263297
HP:0001939	Abnormality of metabolism/homeostasis	29968	PSAT1	ORPHA:284417
HP:0001939	Abnormality of metabolism/homeostasis	29968	PSAT1	OMIM:610992
HP:0001939	Abnormality of metabolism/homeostasis	5723	PSPH	ORPHA:79350
HP:0001939	Abnormality of metabolism/homeostasis	5723	PSPH	OMIM:614023
HP:0001939	Abnormality of metabolism/homeostasis	26227	PHGDH	ORPHA:79351
HP:0001939	Abnormality of metabolism/homeostasis	7132	TNFRSF1A	OMIM:142680
HP:0001939	Abnormality of metabolism/homeostasis	567	B2M	ORPHA:314652
HP:0001939	Abnormality of metabolism/homeostasis	11253	MAN1B1	ORPHA:397941
HP:0001939	Abnormality of metabolism/homeostasis	819	CAMLG	OMIM:620201
HP:0001939	Abnormality of metabolism/homeostasis	51608	GET4	OMIM:620200
HP:0001939	Abnormality of metabolism/homeostasis	9382	COG1	OMIM:611209
HP:0001939	Abnormality of metabolism/homeostasis	9382	COG1	ORPHA:263508
HP:0001939	Abnormality of metabolism/homeostasis	133396	IL31RA	OMIM:613955
HP:0001939	Abnormality of metabolism/homeostasis	728294	D2HGDH	OMIM:600721
HP:0001939	Abnormality of metabolism/homeostasis	3418	IDH2	OMIM:613657
HP:0001939	Abnormality of metabolism/homeostasis	3417	IDH1	ORPHA:99646
HP:0001939	Abnormality of metabolism/homeostasis	154	ADRB2	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	155	ADRB3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	7352	UCP3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	8431	NR0B2	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	9607	CARTPT	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	51738	GHRL	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	9672	SDC3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	181	AGRP	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	2671	GFER	ORPHA:330054
HP:0001939	Abnormality of metabolism/homeostasis	201595	STT3B	OMIM:615597
HP:0001939	Abnormality of metabolism/homeostasis	201595	STT3B	ORPHA:370924
HP:0001939	Abnormality of metabolism/homeostasis	3703	STT3A	OMIM:615596
HP:0001939	Abnormality of metabolism/homeostasis	3703	STT3A	ORPHA:370921
HP:0001939	Abnormality of metabolism/homeostasis	80267	EDEM3	OMIM:619493
HP:0001939	Abnormality of metabolism/homeostasis	25839	COG4	ORPHA:263501
HP:0001939	Abnormality of metabolism/homeostasis	147007	TMEM199	OMIM:616829
HP:0001939	Abnormality of metabolism/homeostasis	7355	SLC35A2	ORPHA:356961
HP:0001939	Abnormality of metabolism/homeostasis	54344	DPM3	ORPHA:263494
HP:0001939	Abnormality of metabolism/homeostasis	866	SERPINA6	OMIM:611489
HP:0001939	Abnormality of metabolism/homeostasis	79048	SECISBP2	ORPHA:171706
HP:0001939	Abnormality of metabolism/homeostasis	8292	COLQ	ORPHA:98915
HP:0001939	Abnormality of metabolism/homeostasis	3913	LAMB2	ORPHA:98915
HP:0001939	Abnormality of metabolism/homeostasis	3423	IDS	ORPHA:217093
HP:0001939	Abnormality of metabolism/homeostasis	3423	IDS	ORPHA:217085
HP:0001939	Abnormality of metabolism/homeostasis	55129	ANO10	ORPHA:284289
HP:0001939	Abnormality of metabolism/homeostasis	4351	MPI	ORPHA:79319
HP:0001939	Abnormality of metabolism/homeostasis	590	BCHE	ORPHA:132
HP:0001939	Abnormality of metabolism/homeostasis	130589	GALM	ORPHA:570422
HP:0001939	Abnormality of metabolism/homeostasis	11181	TREH	ORPHA:103909
HP:0001939	Abnormality of metabolism/homeostasis	10195	ALG3	ORPHA:79321
HP:0001939	Abnormality of metabolism/homeostasis	9526	MPDU1	ORPHA:79323
HP:0001939	Abnormality of metabolism/homeostasis	1357	CPA1	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	54808	DYM	ORPHA:239
HP:0001939	Abnormality of metabolism/homeostasis	7092	TLL1	ORPHA:99106
HP:0001939	Abnormality of metabolism/homeostasis	64374	SIL1	ORPHA:559
HP:0001939	Abnormality of metabolism/homeostasis	51763	INPP5K	ORPHA:559
HP:0001939	Abnormality of metabolism/homeostasis	84892	POMGNT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	148789	B3GALNT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	29954	POMT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	10329	RXYLT1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	1605	DAG1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	11041	B4GAT1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	84197	POMK	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	57465	TBC1D24	OMIM:220500
HP:0001939	Abnormality of metabolism/homeostasis	57465	TBC1D24	ORPHA:79500
HP:0001939	Abnormality of metabolism/homeostasis	6576	SLC25A1	OMIM:615182
HP:0001939	Abnormality of metabolism/homeostasis	526	ATP6V1B2	ORPHA:79500
HP:0001939	Abnormality of metabolism/homeostasis	1719	DHFR	OMIM:613839
HP:0001939	Abnormality of metabolism/homeostasis	54977	SLC25A38	OMIM:205950
HP:0001939	Abnormality of metabolism/homeostasis	10847	SRCAP	ORPHA:2044
HP:0001939	Abnormality of metabolism/homeostasis	2815	GP9	ORPHA:274
HP:0001939	Abnormality of metabolism/homeostasis	1583	CYP11A1	ORPHA:289548
HP:0001939	Abnormality of metabolism/homeostasis	1583	CYP11A1	ORPHA:168558
HP:0001939	Abnormality of metabolism/homeostasis	56246	MRAP	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	6770	STAR	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	4158	MC2R	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	23530	NNT	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	10587	TXNRD2	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	1187	CLCNKA	OMIM:613090
HP:0001939	Abnormality of metabolism/homeostasis	7809	BSND	OMIM:602522
HP:0001939	Abnormality of metabolism/homeostasis	554	AVPR2	OMIM:300539
HP:0001939	Abnormality of metabolism/homeostasis	3291	HSD11B2	ORPHA:320
HP:0001939	Abnormality of metabolism/homeostasis	1585	CYP11B2	ORPHA:556030
HP:0001939	Abnormality of metabolism/homeostasis	10861	SLC26A1	OMIM:620372
HP:0001939	Abnormality of metabolism/homeostasis	55811	ADCY10	ORPHA:2197
HP:0001939	Abnormality of metabolism/homeostasis	7994	KAT6A	OMIM:616268
HP:0001939	Abnormality of metabolism/homeostasis	22907	DHX30	OMIM:617804
HP:0001939	Abnormality of metabolism/homeostasis	116931	MED12L	OMIM:618872
HP:0001939	Abnormality of metabolism/homeostasis	28755	TRAC	OMIM:615387
HP:0001939	Abnormality of metabolism/homeostasis	22806	IKZF3	OMIM:619437
HP:0001939	Abnormality of metabolism/homeostasis	1066	CES1	OMIM:618057
HP:0001939	Abnormality of metabolism/homeostasis	5313	PKLR	OMIM:266200
HP:0001939	Abnormality of metabolism/homeostasis	5313	PKLR	ORPHA:766
HP:0001939	Abnormality of metabolism/homeostasis	3938	LCT	OMIM:223000
HP:0001939	Abnormality of metabolism/homeostasis	4175	MCM6	OMIM:223100
HP:0001939	Abnormality of metabolism/homeostasis	23729	SHPK	OMIM:617213
HP:0001939	Abnormality of metabolism/homeostasis	9493	KIF23	ORPHA:98870
HP:0001939	Abnormality of metabolism/homeostasis	29127	RACGAP1	ORPHA:98870
HP:0001939	Abnormality of metabolism/homeostasis	55532	SLC30A10	OMIM:613280
HP:0001939	Abnormality of metabolism/homeostasis	55532	SLC30A10	ORPHA:309854
HP:0001939	Abnormality of metabolism/homeostasis	5825	ABCD3	OMIM:616278
HP:0001939	Abnormality of metabolism/homeostasis	23545	ATP6V0A2	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	523	ATP6V1A	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	529	ATP6V1E1	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	6208	RPS14	ORPHA:86841
HP:0001939	Abnormality of metabolism/homeostasis	7201	TRHR	ORPHA:99832
HP:0001939	Abnormality of metabolism/homeostasis	2299	FOXI1	OMIM:274600
HP:0001939	Abnormality of metabolism/homeostasis	5172	SLC26A4	OMIM:274600
HP:0001939	Abnormality of metabolism/homeostasis	22934	RPIA	OMIM:608611
HP:0001939	Abnormality of metabolism/homeostasis	7086	TKT	ORPHA:488618
HP:0001939	Abnormality of metabolism/homeostasis	4703	NEB	OMIM:256030
HP:0001939	Abnormality of metabolism/homeostasis	7273	TTN	OMIM:611705
HP:0001939	Abnormality of metabolism/homeostasis	64208	POPDC3	OMIM:618848
HP:0001939	Abnormality of metabolism/homeostasis	4747	NEFL	ORPHA:99939
HP:0001939	Abnormality of metabolism/homeostasis	57216	VANGL2	ORPHA:563612
HP:0001939	Abnormality of metabolism/homeostasis	57216	VANGL2	ORPHA:563609
HP:0001939	Abnormality of metabolism/homeostasis	57591	MRTFA	OMIM:618847
HP:0001939	Abnormality of metabolism/homeostasis	4056	LTC4S	OMIM:614037
HP:0001939	Abnormality of metabolism/homeostasis	2819	GPD1	OMIM:614480
HP:0001939	Abnormality of metabolism/homeostasis	5311	PKD2	OMIM:613095
HP:0001939	Abnormality of metabolism/homeostasis	51473	DCDC2	OMIM:617394
HP:0001939	Abnormality of metabolism/homeostasis	197258	FCSK	OMIM:618324
HP:0001939	Abnormality of metabolism/homeostasis	23019	CNOT1	OMIM:618500
HP:0001939	Abnormality of metabolism/homeostasis	3988	LIPA	OMIM:278000
HP:0001939	Abnormality of metabolism/homeostasis	5314	PKHD1	ORPHA:53035
HP:0001939	Abnormality of metabolism/homeostasis	5314	PKHD1	ORPHA:731
HP:0001939	Abnormality of metabolism/homeostasis	5244	ABCB4	OMIM:602347
HP:0001939	Abnormality of metabolism/homeostasis	5244	ABCB4	ORPHA:69663
HP:0001939	Abnormality of metabolism/homeostasis	11277	TREX1	ORPHA:247691
HP:0001939	Abnormality of metabolism/homeostasis	7504	XK	OMIM:300842
HP:0001939	Abnormality of metabolism/homeostasis	162	AP1B1	OMIM:242150
HP:0001939	Abnormality of metabolism/homeostasis	200931	SLC51A	OMIM:619484
HP:0001939	Abnormality of metabolism/homeostasis	55340	GIMAP5	OMIM:619463
HP:0001939	Abnormality of metabolism/homeostasis	113220	KIF12	OMIM:619662
HP:0001939	Abnormality of metabolism/homeostasis	57511	COG6	OMIM:614576
HP:0001939	Abnormality of metabolism/homeostasis	2542	SLC37A4	OMIM:619525
HP:0001939	Abnormality of metabolism/homeostasis	4645	MYO5B	OMIM:619868
HP:0001939	Abnormality of metabolism/homeostasis	199221	DZIP1L	ORPHA:731
HP:0001939	Abnormality of metabolism/homeostasis	6718	AKR1D1	ORPHA:79303
HP:0001939	Abnormality of metabolism/homeostasis	23600	AMACR	OMIM:214950
HP:0001939	Abnormality of metabolism/homeostasis	2313	FLI1	ORPHA:370348
HP:0001939	Abnormality of metabolism/homeostasis	5950	RBP4	OMIM:615147
HP:0001939	Abnormality of metabolism/homeostasis	4842	NOS1	ORPHA:930
HP:0001939	Abnormality of metabolism/homeostasis	4247	MGAT2	ORPHA:79329
HP:0001939	Abnormality of metabolism/homeostasis	5994	RFXAP	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	5993	RFX5	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	8625	RFXANK	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	3551	IKBKB	OMIM:615592
HP:0001939	Abnormality of metabolism/homeostasis	4860	PNP	OMIM:613179
HP:0001939	Abnormality of metabolism/homeostasis	7535	ZAP70	ORPHA:911
HP:0001939	Abnormality of metabolism/homeostasis	3559	IL2RA	OMIM:606367
HP:0001939	Abnormality of metabolism/homeostasis	55719	SLF2	OMIM:620184
HP:0001939	Abnormality of metabolism/homeostasis	1503	CTPS1	OMIM:615897
HP:0001939	Abnormality of metabolism/homeostasis	5896	RAG1	ORPHA:331206
HP:0001939	Abnormality of metabolism/homeostasis	5897	RAG2	ORPHA:331206
HP:0001939	Abnormality of metabolism/homeostasis	1794	DOCK2	OMIM:616433
HP:0001939	Abnormality of metabolism/homeostasis	5238	PGM3	ORPHA:443811
HP:0001939	Abnormality of metabolism/homeostasis	84433	CARD11	OMIM:615206
HP:0001939	Abnormality of metabolism/homeostasis	56160	NSMCE3	OMIM:617241
HP:0001939	Abnormality of metabolism/homeostasis	3937	LCP2	OMIM:619374
HP:0001939	Abnormality of metabolism/homeostasis	50485	SMARCAL1	ORPHA:1830
HP:0001939	Abnormality of metabolism/homeostasis	23765	IL17RA	OMIM:613953
HP:0001939	Abnormality of metabolism/homeostasis	142680	SLC34A3	OMIM:241530
HP:0001939	Abnormality of metabolism/homeostasis	7421	VDR	OMIM:277440
HP:0001939	Abnormality of metabolism/homeostasis	6569	SLC34A1	OMIM:613388
HP:0001939	Abnormality of metabolism/homeostasis	6569	SLC34A1	ORPHA:157215
HP:0001939	Abnormality of metabolism/homeostasis	2591	GALNT3	OMIM:211900
HP:0001939	Abnormality of metabolism/homeostasis	9365	KL	OMIM:617994
HP:0001939	Abnormality of metabolism/homeostasis	335	APOA1	OMIM:619836
HP:0001939	Abnormality of metabolism/homeostasis	19	ABCA1	OMIM:205400
HP:0001939	Abnormality of metabolism/homeostasis	28234	SLCO1B3	ORPHA:3111
HP:0001939	Abnormality of metabolism/homeostasis	10599	SLCO1B1	ORPHA:3111
HP:0001939	Abnormality of metabolism/homeostasis	5741	PTH	OMIM:146200
HP:0001939	Abnormality of metabolism/homeostasis	1591	CYP24A1	OMIM:143880
HP:0001939	Abnormality of metabolism/homeostasis	6899	TBX1	OMIM:188400
HP:0001939	Abnormality of metabolism/homeostasis	9247	GCM2	OMIM:618883
HP:0001939	Abnormality of metabolism/homeostasis	6905	TBCE	OMIM:241410
HP:0001939	Abnormality of metabolism/homeostasis	4312	MMP1	ORPHA:79408
HP:0001939	Abnormality of metabolism/homeostasis	1294	COL7A1	ORPHA:79408
HP:0001939	Abnormality of metabolism/homeostasis	1294	COL7A1	ORPHA:89842
HP:0001939	Abnormality of metabolism/homeostasis	3376	IARS1	ORPHA:541423
HP:0001939	Abnormality of metabolism/homeostasis	3376	IARS1	OMIM:617093
HP:0001939	Abnormality of metabolism/homeostasis	7780	SLC30A2	OMIM:608118
HP:0001939	Abnormality of metabolism/homeostasis	55630	SLC39A4	OMIM:201100
HP:0001939	Abnormality of metabolism/homeostasis	1991	ELANE	ORPHA:2686
HP:0001939	Abnormality of metabolism/homeostasis	85007	PHYKPL	OMIM:615011
HP:0001939	Abnormality of metabolism/homeostasis	164656	TMPRSS6	OMIM:206200
HP:0001939	Abnormality of metabolism/homeostasis	654	BMP6	OMIM:620121
HP:0001939	Abnormality of metabolism/homeostasis	7490	WT1	OMIM:106210
HP:0001939	Abnormality of metabolism/homeostasis	5080	PAX6	OMIM:106210
HP:0001939	Abnormality of metabolism/homeostasis	255738	PCSK9	OMIM:603776
HP:0001939	Abnormality of metabolism/homeostasis	867	CBL	ORPHA:98850
HP:0001939	Abnormality of metabolism/homeostasis	65080	MRPL44	OMIM:615395
HP:0001939	Abnormality of metabolism/homeostasis	570	BAAT	OMIM:619232
HP:0001939	Abnormality of metabolism/homeostasis	6609	SMPD1	OMIM:257200
HP:0001939	Abnormality of metabolism/homeostasis	9215	LARGE1	OMIM:613154
HP:0001939	Abnormality of metabolism/homeostasis	348	APOE	OMIM:269600
HP:0001939	Abnormality of metabolism/homeostasis	9487	PIGL	OMIM:280000
HP:0001939	Abnormality of metabolism/homeostasis	859	CAV3	OMIM:614321
HP:0001939	Abnormality of metabolism/homeostasis	54532	USP53	OMIM:619658
HP:0001939	Abnormality of metabolism/homeostasis	124454	EARS2	OMIM:614924
HP:0001939	Abnormality of metabolism/homeostasis	23230	VPS13A	ORPHA:2388
HP:0001939	Abnormality of metabolism/homeostasis	2683	B4GALT1	OMIM:607091
HP:0001939	Abnormality of metabolism/homeostasis	132	ADK	OMIM:614300
HP:0001939	Abnormality of metabolism/homeostasis	26007	TKFC	OMIM:618805
HP:0001939	Abnormality of metabolism/homeostasis	8772	FADD	OMIM:613759
HP:0001939	Abnormality of metabolism/homeostasis	51181	DCXR	ORPHA:2843
HP:0001939	Abnormality of metabolism/homeostasis	644	BLVRA	OMIM:614156
HP:0001939	Abnormality of metabolism/homeostasis	23516	SLC39A14	ORPHA:521406
HP:0001939	Abnormality of metabolism/homeostasis	23516	SLC39A14	OMIM:617013
HP:0001939	Abnormality of metabolism/homeostasis	2335	FN1	ORPHA:93315
HP:0001939	Abnormality of metabolism/homeostasis	1280	COL2A1	ORPHA:93315
HP:0001939	Abnormality of metabolism/homeostasis	4882	NPR2	OMIM:615923
HP:0001939	Abnormality of metabolism/homeostasis	1756	DMD	OMIM:302045
HP:0001939	Abnormality of metabolism/homeostasis	2273	FHL1	OMIM:300280
HP:0001939	Abnormality of metabolism/homeostasis	1829	DSG2	OMIM:610193
HP:0001939	Abnormality of metabolism/homeostasis	10463	SLC30A9	OMIM:617595
HP:0001939	Abnormality of metabolism/homeostasis	5321	PLA2G4A	OMIM:618372
HP:0001939	Abnormality of metabolism/homeostasis	27040	LAT	OMIM:617514
HP:0001939	Abnormality of metabolism/homeostasis	5295	PIK3R1	OMIM:616005
HP:0001939	Abnormality of metabolism/homeostasis	5966	REL	OMIM:619652
HP:0001939	Abnormality of metabolism/homeostasis	84061	MAGT1	OMIM:300853
HP:0001939	Abnormality of metabolism/homeostasis	7174	TPP2	OMIM:619220
HP:0001939	Abnormality of metabolism/homeostasis	3560	IL2RB	OMIM:618495
HP:0001939	Abnormality of metabolism/homeostasis	443	ASPA	OMIM:271900
HP:0001939	Abnormality of metabolism/homeostasis	135	ADORA2A	ORPHA:363549
HP:0001939	Abnormality of metabolism/homeostasis	64902	AGXT2	OMIM:210100
HP:0001939	Abnormality of metabolism/homeostasis	24145	PANX1	OMIM:618550
HP:0001939	Abnormality of metabolism/homeostasis	9154	SLC28A1	OMIM:618477
HP:0001939	Abnormality of metabolism/homeostasis	9692	PRORP	OMIM:619737
HP:0001939	Abnormality of metabolism/homeostasis	23590	PDSS1	OMIM:614651
HP:0001939	Abnormality of metabolism/homeostasis	10102	TSFM	OMIM:610505
HP:0001939	Abnormality of metabolism/homeostasis	3570	IL6R	OMIM:618944
HP:0001939	Abnormality of metabolism/homeostasis	6652	SORD	OMIM:618912
HP:0001939	Abnormality of metabolism/homeostasis	2495	FTH1	OMIM:615517
HP:0001939	Abnormality of metabolism/homeostasis	2222	FDFT1	OMIM:618156
HP:0001939	Abnormality of metabolism/homeostasis	5184	PEPD	OMIM:170100
HP:0001939	Abnormality of metabolism/homeostasis	7234	TRU-TCA1-1	OMIM:620198
HP:0001939	Abnormality of metabolism/homeostasis	9529	BAG5	OMIM:619747
HP:0001939	Abnormality of metabolism/homeostasis	5092	PCBD1	OMIM:264070
HP:0001939	Abnormality of metabolism/homeostasis	2717	GLA	OMIM:301500
HP:0001939	Abnormality of metabolism/homeostasis	3141	HLCS	OMIM:253270
HP:0001939	Abnormality of metabolism/homeostasis	56922	MCCC1	OMIM:210200
HP:0001939	Abnormality of metabolism/homeostasis	6476	SI	OMIM:222900
HP:0001939	Abnormality of metabolism/homeostasis	85021	REPS1	OMIM:617916
HP:0001939	Abnormality of metabolism/homeostasis	1174	AP1S1	OMIM:609313
HP:0001939	Abnormality of metabolism/homeostasis	9453	GGPS1	OMIM:619518
HP:0001939	Abnormality of metabolism/homeostasis	1120	CHKB	OMIM:602541
HP:0001939	Abnormality of metabolism/homeostasis	3074	HEXB	ORPHA:309162
HP:0001939	Abnormality of metabolism/homeostasis	3074	HEXB	ORPHA:309155
HP:0001939	Abnormality of metabolism/homeostasis	3074	HEXB	ORPHA:309169
HP:0001939	Abnormality of metabolism/homeostasis	3074	HEXB	OMIM:268800
HP:0001939	Abnormality of metabolism/homeostasis	1147	CHUK	OMIM:613630
HP:0001939	Abnormality of metabolism/homeostasis	5351	PLOD1	OMIM:225400
HP:0001939	Abnormality of metabolism/homeostasis	6555	SLC10A2	OMIM:613291
HP:0001939	Abnormality of metabolism/homeostasis	123264	SLC51B	OMIM:619481
HP:0001939	Abnormality of metabolism/homeostasis	6578	SLCO2A1	OMIM:167100
HP:0001939	Abnormality of metabolism/homeostasis	427	ASAH1	OMIM:228000
HP:0001939	Abnormality of metabolism/homeostasis	50619	DEF6	OMIM:619573
HP:0001939	Abnormality of metabolism/homeostasis	22948	CCT5	OMIM:256840
HP:0001939	Abnormality of metabolism/homeostasis	60676	PAPPA2	OMIM:619489
HP:0001939	Abnormality of metabolism/homeostasis	6535	SLC6A8	OMIM:300352
HP:0001939	Abnormality of metabolism/homeostasis	2593	GAMT	OMIM:612736
HP:0001939	Abnormality of metabolism/homeostasis	3818	KLKB1	OMIM:612423
HP:0001939	Abnormality of metabolism/homeostasis	2678	GGT1	OMIM:231950
HP:0001939	Abnormality of metabolism/homeostasis	55526	DHTKD1	OMIM:204750
HP:0001939	Abnormality of metabolism/homeostasis	6342	SCP2	OMIM:613724
HP:0001939	Abnormality of metabolism/homeostasis	7516	XRCC2	OMIM:617247
HP:0001939	Abnormality of metabolism/homeostasis	5889	RAD51C	OMIM:613390
HP:0001939	Abnormality of metabolism/homeostasis	55120	FANCL	OMIM:614083
HP:0001939	Abnormality of metabolism/homeostasis	4173	MCM4	OMIM:609981
HP:0001939	Abnormality of metabolism/homeostasis	23554	TSPAN12	ORPHA:891
HP:0001939	Abnormality of metabolism/homeostasis	8322	FZD4	ORPHA:891
HP:0001939	Abnormality of metabolism/homeostasis	339855	KY	ORPHA:496689
HP:0001939	Abnormality of metabolism/homeostasis	1272	CNTN1	OMIM:612540
HP:0001939	Abnormality of metabolism/homeostasis	1410	CRYAB	ORPHA:399058
HP:0001939	Abnormality of metabolism/homeostasis	10290	SPEG	OMIM:615959
HP:0001939	Abnormality of metabolism/homeostasis	57731	SPTBN4	OMIM:617519
HP:0001939	Abnormality of metabolism/homeostasis	124093	CCDC78	OMIM:614807
HP:0001939	Abnormality of metabolism/homeostasis	55958	KLHL9	ORPHA:399081
HP:0001939	Abnormality of metabolism/homeostasis	4632	MYL1	OMIM:618414
HP:0001939	Abnormality of metabolism/homeostasis	11342	RNF13	ORPHA:544503
HP:0001939	Abnormality of metabolism/homeostasis	152110	NEK10	OMIM:618781
HP:0001939	Abnormality of metabolism/homeostasis	79944	L2HGDH	OMIM:236792
HP:0001939	Abnormality of metabolism/homeostasis	5054	SERPINE1	ORPHA:465
HP:0001939	Abnormality of metabolism/homeostasis	84196	USP48	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	64072	CDH23	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	546	ATRX	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	7351	UCP2	ORPHA:276556
HP:0001939	Abnormality of metabolism/homeostasis	2710	GK	OMIM:307030
HP:0001939	Abnormality of metabolism/homeostasis	64170	CARD9	OMIM:212050
HP:0001939	Abnormality of metabolism/homeostasis	1356	CP	OMIM:604290
HP:0001939	Abnormality of metabolism/homeostasis	1356	CP	ORPHA:48818
HP:0001939	Abnormality of metabolism/homeostasis	6499	SKIC2	OMIM:614602
HP:0001939	Abnormality of metabolism/homeostasis	27086	FOXP1	ORPHA:391372
HP:0001939	Abnormality of metabolism/homeostasis	5277	PIGA	ORPHA:447
HP:0001939	Abnormality of metabolism/homeostasis	7512	XPNPEP2	ORPHA:100057
HP:0001939	Abnormality of metabolism/homeostasis	710	SERPING1	ORPHA:100050
HP:0001939	Abnormality of metabolism/homeostasis	7390	UROS	OMIM:263700
HP:0001939	Abnormality of metabolism/homeostasis	7389	UROD	ORPHA:95159
HP:0001939	Abnormality of metabolism/homeostasis	286410	ATP11C	OMIM:301015
HP:0001939	Abnormality of metabolism/homeostasis	5837	PYGM	OMIM:232600
HP:0001939	Abnormality of metabolism/homeostasis	5837	PYGM	ORPHA:368
HP:0001939	Abnormality of metabolism/homeostasis	1371	CPOX	ORPHA:79273
HP:0001939	Abnormality of metabolism/homeostasis	23175	LPIN1	ORPHA:99845
HP:0001939	Abnormality of metabolism/homeostasis	4512	MT-CO1	ORPHA:99845
HP:0001939	Abnormality of metabolism/homeostasis	4514	MT-CO3	ORPHA:99845
HP:0001939	Abnormality of metabolism/homeostasis	6775	STAT4	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	6696	SPP1	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	3654	IRAK1	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	3145	HMBS	ORPHA:79276
HP:0001939	Abnormality of metabolism/homeostasis	79989	IFT56	OMIM:619534
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228302
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228305
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228308
HP:0001939	Abnormality of metabolism/homeostasis	210	ALAD	ORPHA:100924
HP:0001939	Abnormality of metabolism/homeostasis	2623	GATA1	ORPHA:79277
HP:0001939	Abnormality of metabolism/homeostasis	917	CD3G	OMIM:615607
HP:0001939	Abnormality of metabolism/homeostasis	3945	LDHB	OMIM:614128
HP:0001939	Abnormality of metabolism/homeostasis	174	AFP	OMIM:615969
HP:0001939	Abnormality of metabolism/homeostasis	8029	CUBN	ORPHA:35858
HP:0001939	Abnormality of metabolism/homeostasis	8029	CUBN	OMIM:261100
HP:0001939	Abnormality of metabolism/homeostasis	81693	AMN	ORPHA:35858
HP:0001939	Abnormality of metabolism/homeostasis	81693	AMN	OMIM:618882
HP:0001939	Abnormality of metabolism/homeostasis	2917	GRM7	OMIM:618922
HP:0001939	Abnormality of metabolism/homeostasis	55788	LMBRD1	ORPHA:79284
HP:0001939	Abnormality of metabolism/homeostasis	6573	SLC19A1	OMIM:601775
HP:0001939	Abnormality of metabolism/homeostasis	3117	HLA-DQA1	OMIM:212750
HP:0001939	Abnormality of metabolism/homeostasis	3119	HLA-DQB1	OMIM:212750
HP:0001939	Abnormality of metabolism/homeostasis	2984	GUCY2C	OMIM:614616
HP:0001939	Abnormality of metabolism/homeostasis	215	ABCD1	ORPHA:139399
HP:0001939	Abnormality of metabolism/homeostasis	2694	CBLIF	OMIM:261000
HP:0001939	Abnormality of metabolism/homeostasis	1737	DLAT	ORPHA:79244
HP:0001939	Abnormality of metabolism/homeostasis	55593	OTUD5	OMIM:301056
HP:0001939	Abnormality of metabolism/homeostasis	113235	SLC46A1	OMIM:229050
HP:0001939	Abnormality of metabolism/homeostasis	374879	ZNF699	OMIM:619488
HP:0001939	Abnormality of metabolism/homeostasis	51128	SAR1B	ORPHA:71
HP:0001939	Abnormality of metabolism/homeostasis	9420	CYP7B1	ORPHA:79302
HP:0001939	Abnormality of metabolism/homeostasis	1758	DMP1	ORPHA:289176
HP:0001939	Abnormality of metabolism/homeostasis	6554	SLC10A1	OMIM:619256
HP:0001939	Abnormality of metabolism/homeostasis	8074	FGF23	ORPHA:89937
HP:0001939	Abnormality of metabolism/homeostasis	2590	GALNT2	OMIM:618885
HP:0001939	Abnormality of metabolism/homeostasis	2859	GPR35	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	10507	SEMA4D	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	4485	MST1	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	6925	TCF4	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	134218	DNAJC21	OMIM:617052
HP:0001939	Abnormality of metabolism/homeostasis	134218	DNAJC21	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	6135	RPL11	OMIM:612562
HP:0001939	Abnormality of metabolism/homeostasis	10516	FBLN5	ORPHA:90348
HP:0001939	Abnormality of metabolism/homeostasis	10056	FARSB	OMIM:613658
HP:0001939	Abnormality of metabolism/homeostasis	5745	PTH1R	OMIM:600002
HP:0001939	Abnormality of metabolism/homeostasis	4547	MTTP	ORPHA:14
HP:0001939	Abnormality of metabolism/homeostasis	8309	ACOX2	OMIM:617308
HP:0001939	Abnormality of metabolism/homeostasis	6204	RPS10	OMIM:613308
HP:0001939	Abnormality of metabolism/homeostasis	79631	EFL1	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	51119	SBDS	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	6729	SRP54	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	57704	GBA2	ORPHA:352641
HP:0001939	Abnormality of metabolism/homeostasis	338	APOB	OMIM:615558
HP:0001939	Abnormality of metabolism/homeostasis	7274	TTPA	OMIM:277460
HP:0001939	Abnormality of metabolism/homeostasis	1581	CYP7A1	ORPHA:209902
HP:0001939	Abnormality of metabolism/homeostasis	54809	SAMD9	OMIM:610455
HP:0001939	Abnormality of metabolism/homeostasis	79879	CCDC134	OMIM:619795
HP:0001939	Abnormality of metabolism/homeostasis	2767	GNA11	OMIM:615361
HP:0001939	Abnormality of metabolism/homeostasis	10568	SLC34A2	ORPHA:60025
HP:0001939	Abnormality of metabolism/homeostasis	100151683	RNU4ATAC	ORPHA:2636
HP:0001939	Abnormality of metabolism/homeostasis	54757	FAM20A	ORPHA:1031
HP:0001939	Abnormality of metabolism/homeostasis	149461	CLDN19	ORPHA:2196
HP:0001939	Abnormality of metabolism/homeostasis	326	AIRE	ORPHA:3453
HP:0001939	Abnormality of metabolism/homeostasis	51371	POMP	OMIM:618048
HP:0001939	Abnormality of metabolism/homeostasis	5692	PSMB4	OMIM:617591
HP:0001939	Abnormality of metabolism/homeostasis	5698	PSMB9	OMIM:617591
HP:0001939	Abnormality of metabolism/homeostasis	8425	LTBP4	OMIM:613177
HP:0001939	Abnormality of metabolism/homeostasis	1493	CTLA4	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	26191	PTPN22	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	3115	HLA-DPB1	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	5657	PRTN3	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	3113	HLA-DPA1	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	147372	CCBE1	OMIM:235510
HP:0001939	Abnormality of metabolism/homeostasis	285362	SUMF1	OMIM:272200
HP:0001939	Abnormality of metabolism/homeostasis	3321	IGSF3	OMIM:149700
HP:0001939	Abnormality of metabolism/homeostasis	23607	CD2AP	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	9688	NUP93	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	4643	MYO1E	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	64423	INF2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	26130	GAPVD1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	57122	NUP107	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	51479	ANKFY1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	54443	ANLN	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	5800	PTPRO	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	286204	CRB2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23165	NUP205	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	2013	EMP2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79023	NUP37	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	51196	PLCE1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79902	NUP85	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	1285	COL4A3	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	396	ARHGDIA	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79934	COQ8B	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23279	NUP160	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	9863	MAGI2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	81	ACTN4	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	7225	TRPC6	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	8542	APOL1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	54885	TBC1D8B	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	7827	NPHS2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	83478	ARHGAP24	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23500	DAAM2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	5076	PAX2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	55746	NUP133	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	54345	SOX18	OMIM:137940
HP:0001939	Abnormality of metabolism/homeostasis	54345	SOX18	OMIM:607823
HP:0001939	Abnormality of metabolism/homeostasis	54345	SOX18	ORPHA:69735
HP:0001939	Abnormality of metabolism/homeostasis	2290	FOXG1	ORPHA:261144
HP:0001939	Abnormality of metabolism/homeostasis	54453	RIN2	OMIM:613075
HP:0001939	Abnormality of metabolism/homeostasis	6711	SPTBN1	OMIM:619475
HP:0001939	Abnormality of metabolism/homeostasis	85358	SHANK3	ORPHA:48652
HP:0001939	Abnormality of metabolism/homeostasis	85358	SHANK3	OMIM:606232
HP:0001939	Abnormality of metabolism/homeostasis	7045	TGFBI	OMIM:608470
HP:0001939	Abnormality of metabolism/homeostasis	284252	KCTD1	ORPHA:2036
HP:0001939	Abnormality of metabolism/homeostasis	284252	KCTD1	OMIM:181270
HP:0001939	Abnormality of metabolism/homeostasis	9326	ZNHIT3	ORPHA:2836
HP:0001939	Abnormality of metabolism/homeostasis	547	KIF1A	ORPHA:2836
HP:0001939	Abnormality of metabolism/homeostasis	5828	PEX2	OMIM:614866
HP:0001939	Abnormality of metabolism/homeostasis	5457	POU4F1	ORPHA:314647
HP:0001939	Abnormality of metabolism/homeostasis	23261	CAMTA1	ORPHA:314647
HP:0001939	Abnormality of metabolism/homeostasis	23261	CAMTA1	OMIM:614756
HP:0001939	Abnormality of metabolism/homeostasis	83550	GPR101	ORPHA:963
HP:0001939	Abnormality of metabolism/homeostasis	5293	PIK3CD	ORPHA:221139
HP:0001939	Abnormality of metabolism/homeostasis	90417	KNSTRN	ORPHA:221139
HP:0001939	Abnormality of metabolism/homeostasis	22947	DUX4L1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	1789	DNMT3B	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	2483	FRG1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	23347	SMCHD1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	100288687	DUX4	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	71	ACTG1	ORPHA:2995
HP:0001939	Abnormality of metabolism/homeostasis	60	ACTB	ORPHA:2995
HP:0001939	Abnormality of metabolism/homeostasis	11133	KPTN	ORPHA:397612
HP:0001939	Abnormality of metabolism/homeostasis	84168	ANTXR1	ORPHA:2067
HP:0001939	Abnormality of metabolism/homeostasis	57231	SNX14	ORPHA:397709
HP:0001939	Abnormality of metabolism/homeostasis	55343	SLC35C1	ORPHA:99843
HP:0001939	Abnormality of metabolism/homeostasis	55691	FRMD4A	ORPHA:466688
HP:0001939	Abnormality of metabolism/homeostasis	23129	PLXND1	ORPHA:3384
HP:0001939	Abnormality of metabolism/homeostasis	51422	PRKAG2	OMIM:261740
HP:0001939	Abnormality of metabolism/homeostasis	4607	MYBPC3	OMIM:115197
HP:0001939	Abnormality of metabolism/homeostasis	8260	NAA10	OMIM:300855
HP:0001939	Abnormality of metabolism/homeostasis	84665	MYPN	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	2318	FLNC	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	7139	TNNT2	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	7137	TNNI3	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	10112	KIF20A	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	7276	TTR	OMIM:105210
HP:0001939	Abnormality of metabolism/homeostasis	440275	EIF2AK4	ORPHA:199241
HP:0001939	Abnormality of metabolism/homeostasis	3426	CFI	ORPHA:244242
HP:0001939	Abnormality of metabolism/homeostasis	4179	CD46	ORPHA:244242
HP:0001939	Abnormality of metabolism/homeostasis	101101692	HELLPAR	ORPHA:244242
HP:0001939	Abnormality of metabolism/homeostasis	7841	MOGS	ORPHA:79330
HP:0001939	Abnormality of metabolism/homeostasis	6440	SFTPC	ORPHA:70587
HP:0001939	Abnormality of metabolism/homeostasis	21	ABCA3	ORPHA:70587
HP:0001939	Abnormality of metabolism/homeostasis	6439	SFTPB	ORPHA:70587
HP:0001939	Abnormality of metabolism/homeostasis	60401	EDA2R	ORPHA:181
HP:0001939	Abnormality of metabolism/homeostasis	83737	ITCH	OMIM:613385
HP:0001939	Abnormality of metabolism/homeostasis	83737	ITCH	ORPHA:228426
HP:0001939	Abnormality of metabolism/homeostasis	5297	PI4KA	ORPHA:436252
HP:0001939	Abnormality of metabolism/homeostasis	1854	DUT	OMIM:620044
HP:0001939	Abnormality of metabolism/homeostasis	4313	MMP2	ORPHA:371428
HP:0001939	Abnormality of metabolism/homeostasis	4323	MMP14	ORPHA:371428
HP:0001939	Abnormality of metabolism/homeostasis	375056	MIA3	OMIM:619269
HP:0001939	Abnormality of metabolism/homeostasis	1369	CPN1	OMIM:212070
HP:0001939	Abnormality of metabolism/homeostasis	8291	DYSF	ORPHA:268
HP:0001939	Abnormality of metabolism/homeostasis	3033	HADH	OMIM:231530
HP:0001939	Abnormality of metabolism/homeostasis	3033	HADH	ORPHA:71212
HP:0001939	Abnormality of metabolism/homeostasis	3030	HADHA	OMIM:609016
HP:0001939	Abnormality of metabolism/homeostasis	4539	MT-ND4L	ORPHA:104
HP:0001939	Abnormality of metabolism/homeostasis	5328	PLAU	OMIM:104300
HP:0001939	Abnormality of metabolism/homeostasis	3553	IL1B	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	4595	MUTYH	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	3659	IRF1	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	2064	ERBB2	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	1316	KLF6	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	324	APC	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	2263	FGFR2	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	6794	STK11	OMIM:260350
HP:0001939	Abnormality of metabolism/homeostasis	35	ACADS	ORPHA:26792
HP:0001939	Abnormality of metabolism/homeostasis	10020	GNE	OMIM:269921
HP:0001939	Abnormality of metabolism/homeostasis	2639	GCDH	OMIM:231670
HP:0001939	Abnormality of metabolism/homeostasis	5256	PHKA2	ORPHA:264580
HP:0001939	Abnormality of metabolism/homeostasis	5261	PHKG2	ORPHA:264580
HP:0001939	Abnormality of metabolism/homeostasis	8573	CASK	OMIM:300908
HP:0001939	Abnormality of metabolism/homeostasis	2539	G6PD	OMIM:300908
HP:0001939	Abnormality of metabolism/homeostasis	6773	STAT2	OMIM:616636
HP:0001939	Abnormality of metabolism/homeostasis	8517	IKBKG	OMIM:300291
HP:0001939	Abnormality of metabolism/homeostasis	959	CD40LG	OMIM:308230
HP:0001939	Abnormality of metabolism/homeostasis	4598	MVK	OMIM:260920
HP:0001939	Abnormality of metabolism/homeostasis	4598	MVK	OMIM:610377
HP:0001939	Abnormality of metabolism/homeostasis	11151	CORO1A	OMIM:615401
HP:0001939	Abnormality of metabolism/homeostasis	2752	GLUL	OMIM:610015
HP:0001939	Abnormality of metabolism/homeostasis	4190	MDH1	OMIM:618959
HP:0001939	Abnormality of metabolism/homeostasis	4780	NFE2L2	OMIM:617744
HP:0001939	Abnormality of metabolism/homeostasis	10243	GPHN	OMIM:615501
HP:0001939	Abnormality of metabolism/homeostasis	383	ARG1	OMIM:207800
HP:0001939	Abnormality of metabolism/homeostasis	10157	AASS	ORPHA:2203
HP:0001939	Abnormality of metabolism/homeostasis	6533	SLC6A6	OMIM:145350
HP:0001939	Abnormality of metabolism/homeostasis	6558	SLC12A2	OMIM:619080
HP:0001939	Abnormality of metabolism/homeostasis	54790	TET2	OMIM:619126
HP:0001939	Abnormality of metabolism/homeostasis	1807	DPYS	OMIM:222748
HP:0001939	Abnormality of metabolism/homeostasis	8443	GNPAT	OMIM:222765
HP:0002148	Hypophosphatemia	1576	CYP3A4	OMIM:619073
HP:0002148	Hypophosphatemia	7421	VDR	ORPHA:93160
HP:0002148	Hypophosphatemia	7421	VDR	OMIM:277440
HP:0002148	Hypophosphatemia	4952	OCRL	OMIM:300555
HP:0002148	Hypophosphatemia	4952	OCRL	ORPHA:534
HP:0002148	Hypophosphatemia	229	ALDOB	OMIM:229600
HP:0002148	Hypophosphatemia	229	ALDOB	ORPHA:469
HP:0002148	Hypophosphatemia	1594	CYP27B1	ORPHA:289157
HP:0002148	Hypophosphatemia	1594	CYP27B1	OMIM:264700
HP:0002148	Hypophosphatemia	120227	CYP2R1	ORPHA:289157
HP:0002148	Hypophosphatemia	120227	CYP2R1	OMIM:600081
HP:0002148	Hypophosphatemia	9368	NHERF1	OMIM:612287
HP:0002148	Hypophosphatemia	10312	TCIRG1	ORPHA:667
HP:0002148	Hypophosphatemia	1186	CLCN7	ORPHA:667
HP:0002148	Hypophosphatemia	29887	SNX10	ORPHA:667
HP:0002148	Hypophosphatemia	8600	TNFSF11	ORPHA:667
HP:0002148	Hypophosphatemia	79577	CDC73	ORPHA:143
HP:0002148	Hypophosphatemia	79577	CDC73	ORPHA:99880
HP:0002148	Hypophosphatemia	79577	CDC73	ORPHA:99879
HP:0002148	Hypophosphatemia	3636	INPPL1	OMIM:258480
HP:0002148	Hypophosphatemia	6514	SLC2A2	OMIM:227810
HP:0002148	Hypophosphatemia	6514	SLC2A2	ORPHA:2088
HP:0002148	Hypophosphatemia	56975	FAM20C	OMIM:259775
HP:0002148	Hypophosphatemia	5745	PTH1R	OMIM:156400
HP:0002148	Hypophosphatemia	1285	COL4A3	OMIM:104200
HP:0002148	Hypophosphatemia	4221	MEN1	ORPHA:99879
HP:0002148	Hypophosphatemia	9247	GCM2	ORPHA:99879
HP:0002148	Hypophosphatemia	2778	GNAS	ORPHA:562
HP:0002148	Hypophosphatemia	1175	AP2S1	OMIM:600740
HP:0002148	Hypophosphatemia	846	CASR	OMIM:239200
HP:0002148	Hypophosphatemia	5251	PHEX	OMIM:307800
HP:0002148	Hypophosphatemia	1497	CTNS	OMIM:219800
HP:0002148	Hypophosphatemia	3172	HNF4A	ORPHA:263455
HP:0002148	Hypophosphatemia	142680	SLC34A3	ORPHA:157215
HP:0002148	Hypophosphatemia	142680	SLC34A3	OMIM:241530
HP:0002148	Hypophosphatemia	6569	SLC34A1	ORPHA:157215
HP:0002148	Hypophosphatemia	6569	SLC34A1	ORPHA:3337
HP:0002148	Hypophosphatemia	1184	CLCN5	OMIM:300554
HP:0002148	Hypophosphatemia	5442	POLRMT	OMIM:619743
HP:0002148	Hypophosphatemia	368	ABCC6	OMIM:614473
HP:0002148	Hypophosphatemia	368	ABCC6	ORPHA:51608
HP:0002148	Hypophosphatemia	137682	NDUFAF6	OMIM:618913
HP:0002148	Hypophosphatemia	137682	NDUFAF6	ORPHA:3337
HP:0002148	Hypophosphatemia	4665	NAB2	ORPHA:2126
HP:0002148	Hypophosphatemia	6778	STAT6	ORPHA:2126
HP:0002148	Hypophosphatemia	8074	FGF23	OMIM:193100
HP:0002148	Hypophosphatemia	2184	FAH	OMIM:276700
HP:0002148	Hypophosphatemia	3845	KRAS	OMIM:163200
HP:0002148	Hypophosphatemia	4893	NRAS	OMIM:163200
HP:0002148	Hypophosphatemia	3265	HRAS	OMIM:163200
HP:0002148	Hypophosphatemia	3265	HRAS	ORPHA:2874
HP:0002148	Hypophosphatemia	1962	EHHADH	ORPHA:3337
HP:0002148	Hypophosphatemia	2628	GATM	ORPHA:3337
HP:0002148	Hypophosphatemia	63901	FAM111A	OMIM:127000
HP:0002148	Hypophosphatemia	100134444	KCNJ18	ORPHA:79102
HP:0002148	Hypophosphatemia	2556	GABRA3	ORPHA:79102
HP:0002148	Hypophosphatemia	779	CACNA1S	ORPHA:79102
HP:0002148	Hypophosphatemia	1758	DMP1	ORPHA:289176
HP:0002148	Hypophosphatemia	5167	ENPP1	ORPHA:289176
HP:0002149	Hyperuricemia	3251	HPRT1	ORPHA:510
HP:0002149	Hyperuricemia	3251	HPRT1	OMIM:300322
HP:0002149	Hyperuricemia	3251	HPRT1	OMIM:300323
HP:0002149	Hyperuricemia	3251	HPRT1	ORPHA:79233
HP:0002149	Hyperuricemia	3155	HMGCL	ORPHA:20
HP:0002149	Hyperuricemia	3155	HMGCL	OMIM:246450
HP:0002149	Hyperuricemia	25970	SH2B1	ORPHA:261222
HP:0002149	Hyperuricemia	5972	REN	OMIM:613092
HP:0002149	Hyperuricemia	229	ALDOB	OMIM:229600
HP:0002149	Hyperuricemia	229	ALDOB	ORPHA:469
HP:0002149	Hyperuricemia	29927	SEC61A1	OMIM:617056
HP:0002149	Hyperuricemia	5631	PRPS1	ORPHA:411543
HP:0002149	Hyperuricemia	5631	PRPS1	ORPHA:411536
HP:0002149	Hyperuricemia	5631	PRPS1	OMIM:300661
HP:0002149	Hyperuricemia	5836	PYGL	OMIM:232700
HP:0002149	Hyperuricemia	6928	HNF1B	ORPHA:93111
HP:0002149	Hyperuricemia	6928	HNF1B	OMIM:137920
HP:0002149	Hyperuricemia	2542	SLC37A4	OMIM:232220
HP:0002149	Hyperuricemia	2542	SLC37A4	ORPHA:79259
HP:0002149	Hyperuricemia	2542	SLC37A4	OMIM:232240
HP:0002149	Hyperuricemia	2203	FBP1	ORPHA:348
HP:0002149	Hyperuricemia	4609	MYC	ORPHA:543
HP:0002149	Hyperuricemia	5468	PPARG	OMIM:604367
HP:0002149	Hyperuricemia	5468	PPARG	ORPHA:79083
HP:0002149	Hyperuricemia	3998	LMAN1	ORPHA:35909
HP:0002149	Hyperuricemia	90411	MCFD2	ORPHA:35909
HP:0002149	Hyperuricemia	4982	TNFRSF11B	ORPHA:2801
HP:0002149	Hyperuricemia	4982	TNFRSF11B	OMIM:239000
HP:0002149	Hyperuricemia	8792	TNFRSF11A	ORPHA:2801
HP:0002149	Hyperuricemia	10686	CLDN16	OMIM:248250
HP:0002149	Hyperuricemia	38	ACAT1	ORPHA:134
HP:0002149	Hyperuricemia	5213	PFKM	ORPHA:371
HP:0002149	Hyperuricemia	5213	PFKM	OMIM:232800
HP:0002149	Hyperuricemia	7369	UMOD	OMIM:162000
HP:0002149	Hyperuricemia	2538	G6PC1	OMIM:232200
HP:0002149	Hyperuricemia	5837	PYGM	OMIM:232600
HP:0002149	Hyperuricemia	7840	ALMS1	OMIM:203800
HP:0002149	Hyperuricemia	5257	PHKB	OMIM:261750
HP:0002149	Hyperuricemia	4582	MUC1	OMIM:174000
HP:0002149	Hyperuricemia	5256	PHKA2	OMIM:306000
HP:0002149	Hyperuricemia	54938	SARS2	OMIM:613845
HP:0009308	Symphalangism of middle phalanx of 4th finger	9241	NOG	OMIM:186500
HP:0012363	Decreased sialylation of O-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012363	Decreased sialylation of O-linked protein glycosylation	54344	DPM3	ORPHA:263494
HP:0012368	Flat face	9949	AMMECR1	OMIM:300990
HP:0012368	Flat face	1280	COL2A1	OMIM:132450
HP:0012368	Flat face	1280	COL2A1	ORPHA:93315
HP:0012368	Flat face	1280	COL2A1	ORPHA:94068
HP:0012368	Flat face	1280	COL2A1	OMIM:183900
HP:0012368	Flat face	1280	COL2A1	OMIM:151210
HP:0012368	Flat face	1280	COL2A1	ORPHA:93346
HP:0012368	Flat face	5193	PEX12	OMIM:266510
HP:0012368	Flat face	5193	PEX12	OMIM:614859
HP:0012368	Flat face	5193	PEX12	ORPHA:912
HP:0012368	Flat face	2335	FN1	ORPHA:93315
HP:0012368	Flat face	5885	RAD21	OMIM:614701
HP:0012368	Flat face	347734	SLC35B2	OMIM:620269
HP:0012368	Flat face	2720	GLB1	OMIM:230600
HP:0012368	Flat face	5077	PAX3	ORPHA:1529
HP:0012368	Flat face	5077	PAX3	OMIM:122880
HP:0012368	Flat face	2261	FGFR3	ORPHA:93274
HP:0012368	Flat face	2261	FGFR3	ORPHA:1860
HP:0012368	Flat face	10060	ABCC9	OMIM:619719
HP:0012368	Flat face	4125	MAN2B1	ORPHA:309282
HP:0012368	Flat face	6662	SOX9	ORPHA:140
HP:0012368	Flat face	6662	SOX9	OMIM:114290
HP:0012368	Flat face	2623	GATA1	OMIM:190685
HP:0012368	Flat face	126792	B3GALT6	ORPHA:2725
HP:0012368	Flat face	126792	B3GALT6	OMIM:271640
HP:0012368	Flat face	126792	B3GALT6	OMIM:615349
HP:0012368	Flat face	28960	DCPS	OMIM:616459
HP:0012368	Flat face	10982	MAPRE2	OMIM:616734
HP:0012368	Flat face	999	CDH1	OMIM:119580
HP:0012368	Flat face	5189	PEX1	OMIM:214100
HP:0012368	Flat face	5189	PEX1	ORPHA:912
HP:0012368	Flat face	9126	SMC3	OMIM:610759
HP:0012368	Flat face	4297	KMT2A	OMIM:605130
HP:0012368	Flat face	4297	KMT2A	ORPHA:319182
HP:0012368	Flat face	6595	SMARCA2	OMIM:619293
HP:0012368	Flat face	79158	GNPTAB	ORPHA:576
HP:0012368	Flat face	4148	MATN3	ORPHA:156728
HP:0012368	Flat face	4148	MATN3	OMIM:608728
HP:0012368	Flat face	2263	FGFR2	ORPHA:87
HP:0012368	Flat face	2263	FGFR2	OMIM:101400
HP:0012368	Flat face	2263	FGFR2	OMIM:101200
HP:0012368	Flat face	4621	MYH3	OMIM:193700
HP:0012368	Flat face	818	CAMK2G	OMIM:618522
HP:0012368	Flat face	10082	GPC6	OMIM:258315
HP:0012368	Flat face	10606	PAICS	OMIM:619859
HP:0012368	Flat face	64131	XYLT1	OMIM:615777
HP:0012368	Flat face	546	ATRX	ORPHA:847
HP:0012368	Flat face	5191	PEX7	OMIM:215100
HP:0012368	Flat face	3339	HSPG2	ORPHA:1865
HP:0012368	Flat face	3339	HSPG2	OMIM:224410
HP:0012368	Flat face	3339	HSPG2	OMIM:255800
HP:0012368	Flat face	3339	HSPG2	ORPHA:800
HP:0012368	Flat face	1281	COL3A1	ORPHA:286
HP:0012368	Flat face	1301	COL11A1	ORPHA:560
HP:0012368	Flat face	1301	COL11A1	OMIM:228520
HP:0012368	Flat face	1301	COL11A1	ORPHA:250984
HP:0012368	Flat face	1500	CTNND1	OMIM:617681
HP:0012368	Flat face	54968	TMEM70	OMIM:614052
HP:0012368	Flat face	10524	KAT5	OMIM:619103
HP:0012368	Flat face	4330	MN1	OMIM:618774
HP:0012368	Flat face	8985	PLOD3	OMIM:612394
HP:0012368	Flat face	5144	PDE4D	ORPHA:439822
HP:0012368	Flat face	79813	EHMT1	OMIM:610253
HP:0012368	Flat face	3070	HELLS	ORPHA:2268
HP:0012368	Flat face	1789	DNMT3B	ORPHA:2268
HP:0012368	Flat face	1789	DNMT3B	OMIM:242860
HP:0012368	Flat face	83879	CDCA7	ORPHA:2268
HP:0012368	Flat face	83879	CDCA7	OMIM:616910
HP:0012368	Flat face	9841	ZBTB24	ORPHA:2268
HP:0012368	Flat face	55012	PPP2R3C	OMIM:618419
HP:0012368	Flat face	55969	RAB5IF	OMIM:616994
HP:0012368	Flat face	1009	CDH11	ORPHA:1299
HP:0012368	Flat face	7291	TWIST1	OMIM:101400
HP:0012368	Flat face	7291	TWIST1	OMIM:180750
HP:0012368	Flat face	139285	AMER1	ORPHA:2780
HP:0012368	Flat face	10522	DEAF1	OMIM:615828
HP:0012368	Flat face	54496	PRMT7	ORPHA:464288
HP:0012368	Flat face	9361	LONP1	ORPHA:1458
HP:0012368	Flat face	3835	KIF22	ORPHA:93360
HP:0012368	Flat face	11285	B4GALT7	OMIM:130070
HP:0012368	Flat face	1836	SLC26A2	OMIM:600972
HP:0012368	Flat face	1836	SLC26A2	ORPHA:93298
HP:0012368	Flat face	9851	KIAA0753	OMIM:619479
HP:0012368	Flat face	9851	KIAA0753	OMIM:617127
HP:0012368	Flat face	7862	BRPF1	OMIM:617333
HP:0012368	Flat face	5063	PAK3	OMIM:300558
HP:0012368	Flat face	79633	FAT4	OMIM:616006
HP:0012368	Flat face	79633	FAT4	ORPHA:2136
HP:0012368	Flat face	9508	ADAMTS3	ORPHA:2136
HP:0012368	Flat face	9508	ADAMTS3	OMIM:618154
HP:0012368	Flat face	147372	CCBE1	ORPHA:2136
HP:0012368	Flat face	147372	CCBE1	OMIM:235510
HP:0012368	Flat face	4659	PPP1R12A	OMIM:618820
HP:0012368	Flat face	5828	PEX2	OMIM:614866
HP:0012368	Flat face	5828	PEX2	ORPHA:912
HP:0012368	Flat face	54499	TMCO1	OMIM:213980
HP:0012368	Flat face	2317	FLNB	ORPHA:503
HP:0012368	Flat face	2317	FLNB	OMIM:150250
HP:0012368	Flat face	285362	SUMF1	OMIM:272200
HP:0012368	Flat face	23545	ATP6V0A2	OMIM:219200
HP:0012368	Flat face	5727	PTCH1	OMIM:610828
HP:0012368	Flat face	2990	GUSB	ORPHA:584
HP:0012368	Flat face	4094	MAF	ORPHA:1272
HP:0012368	Flat face	4094	MAF	OMIM:601088
HP:0012368	Flat face	2571	GAD1	OMIM:619124
HP:0012368	Flat face	203068	TUBB	OMIM:156610
HP:0012368	Flat face	54928	BPNT2	OMIM:614078
HP:0012368	Flat face	202018	TAPT1	OMIM:616897
HP:0012368	Flat face	55670	PEX26	OMIM:614872
HP:0012368	Flat face	55670	PEX26	ORPHA:912
HP:0012368	Flat face	4920	ROR2	OMIM:268310
HP:0012368	Flat face	9321	TRIP11	OMIM:200600
HP:0012368	Flat face	9321	TRIP11	ORPHA:93299
HP:0012368	Flat face	85365	ALG2	OMIM:607906
HP:0012368	Flat face	64116	SLC39A8	ORPHA:468699
HP:0012368	Flat face	79791	FBXO31	OMIM:615979
HP:0012368	Flat face	1302	COL11A2	ORPHA:1427
HP:0012368	Flat face	7474	WNT5A	OMIM:180700
HP:0012368	Flat face	1855	DVL1	OMIM:180700
HP:0012368	Flat face	50945	TBX22	ORPHA:921
HP:0012368	Flat face	10682	EBP	OMIM:302960
HP:0012368	Flat face	9469	CHST3	OMIM:245600
HP:0012368	Flat face	26229	B3GAT3	OMIM:245600
HP:0012368	Flat face	1387	CREBBP	OMIM:618332
HP:0012368	Flat face	2033	EP300	OMIM:618333
HP:0012368	Flat face	1297	COL9A1	OMIM:614134
HP:0012368	Flat face	1297	COL9A1	ORPHA:250984
HP:0012368	Flat face	1298	COL9A2	ORPHA:250984
HP:0012368	Flat face	1299	COL9A3	ORPHA:250984
HP:0012368	Flat face	84695	LOXL3	ORPHA:250984
HP:0012368	Flat face	2316	FLNA	OMIM:311300
HP:0012368	Flat face	5824	PEX19	ORPHA:912
HP:0012368	Flat face	8504	PEX3	ORPHA:912
HP:0012368	Flat face	8799	PEX11B	ORPHA:912
HP:0012368	Flat face	9409	PEX16	ORPHA:912
HP:0012368	Flat face	5190	PEX6	ORPHA:912
HP:0012368	Flat face	5830	PEX5	ORPHA:912
HP:0012368	Flat face	5194	PEX13	ORPHA:912
HP:0012368	Flat face	5195	PEX14	ORPHA:912
HP:0012368	Flat face	5192	PEX10	ORPHA:912
HP:0010668	Abnormal zygomatic bone morphology	50964	SOST	OMIM:269500
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:271700
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:108300
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:156550
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	ORPHA:166100
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:183900
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	ORPHA:85166
HP:0010668	Abnormal zygomatic bone morphology	10128	LRPPRC	OMIM:220111
HP:0010668	Abnormal zygomatic bone morphology	7528	YY1	ORPHA:506358
HP:0010668	Abnormal zygomatic bone morphology	7528	YY1	OMIM:617557
HP:0010668	Abnormal zygomatic bone morphology	2077	ERF	OMIM:600775
HP:0010668	Abnormal zygomatic bone morphology	9131	AIFM1	OMIM:300232
HP:0010668	Abnormal zygomatic bone morphology	6535	SLC6A8	OMIM:300352
HP:0010668	Abnormal zygomatic bone morphology	6535	SLC6A8	ORPHA:52503
HP:0010668	Abnormal zygomatic bone morphology	11253	MAN1B1	ORPHA:397941
HP:0010668	Abnormal zygomatic bone morphology	11253	MAN1B1	OMIM:614202
HP:0010668	Abnormal zygomatic bone morphology	10262	SF3B4	OMIM:154400
HP:0010668	Abnormal zygomatic bone morphology	10262	SF3B4	ORPHA:1788
HP:0010668	Abnormal zygomatic bone morphology	2200	FBN1	ORPHA:1885
HP:0010668	Abnormal zygomatic bone morphology	2200	FBN1	OMIM:154700
HP:0010668	Abnormal zygomatic bone morphology	54507	ADAMTSL4	ORPHA:1885
HP:0010668	Abnormal zygomatic bone morphology	8425	LTBP4	OMIM:613177
HP:0010668	Abnormal zygomatic bone morphology	55624	POMGNT1	OMIM:253280
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	ORPHA:53271
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	ORPHA:93262
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:146000
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:100800
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:602849
HP:0010668	Abnormal zygomatic bone morphology	55777	MBD5	ORPHA:228402
HP:0010668	Abnormal zygomatic bone morphology	3636	INPPL1	ORPHA:3144
HP:0010668	Abnormal zygomatic bone morphology	23169	SLC35D1	ORPHA:3144
HP:0010668	Abnormal zygomatic bone morphology	23169	SLC35D1	OMIM:269250
HP:0010668	Abnormal zygomatic bone morphology	10992	SF3B2	OMIM:164210
HP:0010668	Abnormal zygomatic bone morphology	4000	LMNA	OMIM:176670
HP:0010668	Abnormal zygomatic bone morphology	118987	PDZD8	OMIM:620021
HP:0010668	Abnormal zygomatic bone morphology	23126	POGZ	ORPHA:468678
HP:0010668	Abnormal zygomatic bone morphology	23126	POGZ	OMIM:616364
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:300244
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	ORPHA:90652
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:304120
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:311300
HP:0010668	Abnormal zygomatic bone morphology	267010	RNU12	OMIM:603116
HP:0010668	Abnormal zygomatic bone morphology	613	BCR	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	1399	CRKL	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	5594	MAPK1	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	80816	ASXL3	OMIM:615485
HP:0010668	Abnormal zygomatic bone morphology	1723	DHODH	OMIM:263750
HP:0010668	Abnormal zygomatic bone morphology	1723	DHODH	ORPHA:246
HP:0010668	Abnormal zygomatic bone morphology	10084	PQBP1	ORPHA:93946
HP:0010668	Abnormal zygomatic bone morphology	10084	PQBP1	OMIM:309500
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:620157
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:620155
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:616831
HP:0010668	Abnormal zygomatic bone morphology	5189	PEX1	OMIM:214100
HP:0010668	Abnormal zygomatic bone morphology	4038	LRP4	ORPHA:3258
HP:0010668	Abnormal zygomatic bone morphology	4038	LRP4	OMIM:212780
HP:0010668	Abnormal zygomatic bone morphology	324	APC	ORPHA:3258
HP:0010668	Abnormal zygomatic bone morphology	55650	PIGV	OMIM:239300
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:154780
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:228520
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:604841
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	ORPHA:560
HP:0010668	Abnormal zygomatic bone morphology	7021	TFAP2B	ORPHA:46627
HP:0010668	Abnormal zygomatic bone morphology	4853	NOTCH2	OMIM:102500
HP:0010668	Abnormal zygomatic bone morphology	9968	MED12	ORPHA:93932
HP:0010668	Abnormal zygomatic bone morphology	9326	ZNHIT3	ORPHA:2836
HP:0010668	Abnormal zygomatic bone morphology	547	KIF1A	ORPHA:2836
HP:0010668	Abnormal zygomatic bone morphology	5426	POLE	OMIM:615139
HP:0010668	Abnormal zygomatic bone morphology	51109	RDH11	OMIM:616108
HP:0010668	Abnormal zygomatic bone morphology	51109	RDH11	ORPHA:436245
HP:0010668	Abnormal zygomatic bone morphology	55858	TMEM165	OMIM:614727
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:108721
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:108720
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:150250
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	ORPHA:503
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	ORPHA:93259
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:101400
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:123790
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:101200
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:207410
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:614592
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	ORPHA:1555
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:123150
HP:0010668	Abnormal zygomatic bone morphology	5191	PEX7	OMIM:215100
HP:0010668	Abnormal zygomatic bone morphology	7020	TFAP2A	OMIM:113620
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:184840
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:614524
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:215150
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	ORPHA:166100
HP:0010668	Abnormal zygomatic bone morphology	10484	SEC23A	OMIM:607812
HP:0010668	Abnormal zygomatic bone morphology	860	RUNX2	OMIM:119600
HP:0010668	Abnormal zygomatic bone morphology	79813	EHMT1	OMIM:610253
HP:0010668	Abnormal zygomatic bone morphology	7291	TWIST1	OMIM:101400
HP:0010668	Abnormal zygomatic bone morphology	7291	TWIST1	OMIM:180750
HP:0010668	Abnormal zygomatic bone morphology	5144	PDE4D	OMIM:614613
HP:0010668	Abnormal zygomatic bone morphology	5144	PDE4D	ORPHA:439822
HP:0010668	Abnormal zygomatic bone morphology	5144	PDE4D	ORPHA:280651
HP:0010668	Abnormal zygomatic bone morphology	23314	SATB2	OMIM:612313
HP:0010668	Abnormal zygomatic bone morphology	55636	CHD7	OMIM:214800
HP:0010668	Abnormal zygomatic bone morphology	8642	DCHS1	OMIM:601390
HP:0010668	Abnormal zygomatic bone morphology	26040	SETBP1	OMIM:269150
HP:0010668	Abnormal zygomatic bone morphology	374654	KIF7	OMIM:607131
HP:0010668	Abnormal zygomatic bone morphology	2296	FOXC1	OMIM:602482
HP:0010668	Abnormal zygomatic bone morphology	1789	DNMT3B	OMIM:242860
HP:0010668	Abnormal zygomatic bone morphology	1836	SLC26A2	OMIM:600972
HP:0010668	Abnormal zygomatic bone morphology	1836	SLC26A2	OMIM:256050
HP:0010668	Abnormal zygomatic bone morphology	5447	POR	OMIM:201750
HP:0010668	Abnormal zygomatic bone morphology	5447	POR	OMIM:207410
HP:0010668	Abnormal zygomatic bone morphology	4803	NGF	ORPHA:64752
HP:0010668	Abnormal zygomatic bone morphology	4914	NTRK1	ORPHA:64752
HP:0010668	Abnormal zygomatic bone morphology	81031	SLC2A10	ORPHA:3342
HP:0010668	Abnormal zygomatic bone morphology	81031	SLC2A10	OMIM:208050
HP:0010668	Abnormal zygomatic bone morphology	11128	POLR3A	OMIM:264090
HP:0010668	Abnormal zygomatic bone morphology	11128	POLR3A	ORPHA:3455
HP:0010668	Abnormal zygomatic bone morphology	157570	ESCO2	ORPHA:3103
HP:0010668	Abnormal zygomatic bone morphology	157570	ESCO2	OMIM:268300
HP:0010668	Abnormal zygomatic bone morphology	145258	GSC	OMIM:602471
HP:0010668	Abnormal zygomatic bone morphology	2736	GLI2	OMIM:610829
HP:0010668	Abnormal zygomatic bone morphology	4036	LRP2	OMIM:222448
HP:0010668	Abnormal zygomatic bone morphology	79718	TBL1XR1	OMIM:602342
HP:0010668	Abnormal zygomatic bone morphology	79718	TBL1XR1	ORPHA:487825
HP:0010668	Abnormal zygomatic bone morphology	26137	ZBTB20	OMIM:259050
HP:0010668	Abnormal zygomatic bone morphology	4089	SMAD4	OMIM:139210
HP:0010668	Abnormal zygomatic bone morphology	4849	CNOT3	OMIM:618672
HP:0010668	Abnormal zygomatic bone morphology	641	BLM	OMIM:210900
HP:0010668	Abnormal zygomatic bone morphology	641	BLM	ORPHA:125
HP:0010668	Abnormal zygomatic bone morphology	57492	ARID1B	ORPHA:251056
HP:0010668	Abnormal zygomatic bone morphology	6231	RPS26	OMIM:613309
HP:0010668	Abnormal zygomatic bone morphology	51085	MLXIPL	OMIM:194050
HP:0010668	Abnormal zygomatic bone morphology	2006	ELN	OMIM:194050
HP:0010668	Abnormal zygomatic bone morphology	124583	CANT1	OMIM:251450
HP:0010668	Abnormal zygomatic bone morphology	3187	HNRNPH1	OMIM:620083
HP:0010668	Abnormal zygomatic bone morphology	4920	ROR2	OMIM:268310
HP:0010668	Abnormal zygomatic bone morphology	3835	KIF22	OMIM:603546
HP:0010668	Abnormal zygomatic bone morphology	7030	TFE3	OMIM:301066
HP:0010668	Abnormal zygomatic bone morphology	3339	HSPG2	OMIM:224410
HP:0010668	Abnormal zygomatic bone morphology	3339	HSPG2	OMIM:255800
HP:0010668	Abnormal zygomatic bone morphology	10743	RAI1	OMIM:182290
HP:0010668	Abnormal zygomatic bone morphology	6949	TCOF1	OMIM:154500
HP:0010668	Abnormal zygomatic bone morphology	6949	TCOF1	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	27086	FOXP1	OMIM:613670
HP:0010668	Abnormal zygomatic bone morphology	546	ATRX	OMIM:309580
HP:0010668	Abnormal zygomatic bone morphology	546	ATRX	OMIM:301040
HP:0010668	Abnormal zygomatic bone morphology	10735	STAG2	ORPHA:521258
HP:0010668	Abnormal zygomatic bone morphology	5818	NECTIN1	OMIM:225060
HP:0010668	Abnormal zygomatic bone morphology	23483	TGDS	ORPHA:1388
HP:0010668	Abnormal zygomatic bone morphology	2260	FGFR1	OMIM:166250
HP:0010668	Abnormal zygomatic bone morphology	2260	FGFR1	OMIM:123150
HP:0010668	Abnormal zygomatic bone morphology	22930	RAB3GAP1	ORPHA:1387
HP:0010668	Abnormal zygomatic bone morphology	25782	RAB3GAP2	ORPHA:1387
HP:0010668	Abnormal zygomatic bone morphology	4088	SMAD3	OMIM:613795
HP:0010668	Abnormal zygomatic bone morphology	4088	SMAD3	ORPHA:284984
HP:0010668	Abnormal zygomatic bone morphology	7048	TGFBR2	OMIM:610168
HP:0010668	Abnormal zygomatic bone morphology	7048	TGFBR2	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	51574	LARP7	ORPHA:319671
HP:0010668	Abnormal zygomatic bone morphology	51574	LARP7	OMIM:615071
HP:0010668	Abnormal zygomatic bone morphology	147372	CCBE1	OMIM:235510
HP:0010668	Abnormal zygomatic bone morphology	50945	TBX22	ORPHA:921
HP:0010668	Abnormal zygomatic bone morphology	701	BUB1B	OMIM:257300
HP:0010668	Abnormal zygomatic bone morphology	10682	EBP	OMIM:302960
HP:0010668	Abnormal zygomatic bone morphology	8626	TP63	ORPHA:69085
HP:0010668	Abnormal zygomatic bone morphology	8626	TP63	OMIM:604292
HP:0010668	Abnormal zygomatic bone morphology	4883	NPR3	OMIM:619543
HP:0010668	Abnormal zygomatic bone morphology	55212	BBS7	OMIM:615984
HP:0010668	Abnormal zygomatic bone morphology	2702	GJA5	OMIM:612474
HP:0010668	Abnormal zygomatic bone morphology	2703	GJA8	OMIM:612474
HP:0010668	Abnormal zygomatic bone morphology	7046	TGFBR1	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	7046	TGFBR1	OMIM:609192
HP:0010668	Abnormal zygomatic bone morphology	10526	IPO8	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	9533	POLR1C	OMIM:248390
HP:0010668	Abnormal zygomatic bone morphology	9533	POLR1C	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	1297	COL9A1	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	1298	COL9A2	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	1299	COL9A3	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	84695	LOXL3	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	4921	DDR2	OMIM:271665
HP:0010668	Abnormal zygomatic bone morphology	8925	HERC1	OMIM:617011
HP:0010668	Abnormal zygomatic bone morphology	8925	HERC1	ORPHA:457359
HP:0010668	Abnormal zygomatic bone morphology	5193	PEX12	OMIM:266510
HP:0010668	Abnormal zygomatic bone morphology	65062	TMEM237	OMIM:614424
HP:0010668	Abnormal zygomatic bone morphology	89970	RSPRY1	OMIM:616723
HP:0010668	Abnormal zygomatic bone morphology	89970	RSPRY1	ORPHA:457395
HP:0010668	Abnormal zygomatic bone morphology	23363	OBSL1	OMIM:612921
HP:0010668	Abnormal zygomatic bone morphology	85358	SHANK3	OMIM:606232
HP:0010668	Abnormal zygomatic bone morphology	85358	SHANK3	ORPHA:48652
HP:0010668	Abnormal zygomatic bone morphology	50814	NSDHL	ORPHA:251383
HP:0010668	Abnormal zygomatic bone morphology	50814	NSDHL	OMIM:300831
HP:0010668	Abnormal zygomatic bone morphology	5745	PTH1R	OMIM:215045
HP:0010668	Abnormal zygomatic bone morphology	5745	PTH1R	ORPHA:50945
HP:0010668	Abnormal zygomatic bone morphology	128869	PIGU	OMIM:618590
HP:0010668	Abnormal zygomatic bone morphology	650	BMP2	ORPHA:261295
HP:0010668	Abnormal zygomatic bone morphology	91179	SCARF2	OMIM:600920
HP:0010668	Abnormal zygomatic bone morphology	4854	NOTCH3	OMIM:130720
HP:0010668	Abnormal zygomatic bone morphology	4854	NOTCH3	ORPHA:2789
HP:0010668	Abnormal zygomatic bone morphology	2623	GATA1	OMIM:190685
HP:0010668	Abnormal zygomatic bone morphology	1289	COL5A1	OMIM:619329
HP:0010668	Abnormal zygomatic bone morphology	176	ACAN	OMIM:612813
HP:0010668	Abnormal zygomatic bone morphology	56975	FAM20C	OMIM:259775
HP:0010668	Abnormal zygomatic bone morphology	4763	NF1	OMIM:601321
HP:0010668	Abnormal zygomatic bone morphology	4763	NF1	ORPHA:139474
HP:0010668	Abnormal zygomatic bone morphology	90161	HS6ST2	OMIM:301025
HP:0010668	Abnormal zygomatic bone morphology	1741	DLG3	OMIM:300850
HP:0010668	Abnormal zygomatic bone morphology	3039	HBA1	ORPHA:98791
HP:0010668	Abnormal zygomatic bone morphology	3040	HBA2	ORPHA:98791
HP:0010668	Abnormal zygomatic bone morphology	4621	MYH3	OMIM:193700
HP:0010668	Abnormal zygomatic bone morphology	51132	RLIM	OMIM:300978
HP:0010668	Abnormal zygomatic bone morphology	4125	MAN2B1	OMIM:248500
HP:0010668	Abnormal zygomatic bone morphology	54496	PRMT7	OMIM:617157
HP:0010668	Abnormal zygomatic bone morphology	10082	GPC6	OMIM:258315
HP:0010668	Abnormal zygomatic bone morphology	5831	PYCR1	OMIM:612940
HP:0010668	Abnormal zygomatic bone morphology	5831	PYCR1	ORPHA:2078
HP:0010668	Abnormal zygomatic bone morphology	9820	CUL7	OMIM:273750
HP:0010668	Abnormal zygomatic bone morphology	92344	GORAB	OMIM:231070
HP:0010668	Abnormal zygomatic bone morphology	92344	GORAB	ORPHA:2078
HP:0010668	Abnormal zygomatic bone morphology	3759	KCNJ2	OMIM:170390
HP:0010668	Abnormal zygomatic bone morphology	1312	COMT	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	221037	JMJD1C	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	2812	GP1BB	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	6239	RREB1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	6899	TBX1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	7290	HIRA	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	9632	SEC24C	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	7353	UFD1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	421	ARVCF	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	1009	CDH11	OMIM:211380
HP:0010668	Abnormal zygomatic bone morphology	6898	TAT	ORPHA:28378
HP:0010668	Abnormal zygomatic bone morphology	444	ASPH	OMIM:601552
HP:0010668	Abnormal zygomatic bone morphology	6469	SHH	OMIM:142945
HP:0010668	Abnormal zygomatic bone morphology	7703	PCGF2	OMIM:618371
HP:0010668	Abnormal zygomatic bone morphology	7319	UBE2A	OMIM:300860
HP:0010668	Abnormal zygomatic bone morphology	1277	COL1A1	OMIM:130060
HP:0010668	Abnormal zygomatic bone morphology	9496	TBX4	ORPHA:261279
HP:0010668	Abnormal zygomatic bone morphology	633	BGN	OMIM:300989
HP:0010668	Abnormal zygomatic bone morphology	3977	LIFR	OMIM:601559
HP:0010668	Abnormal zygomatic bone morphology	5277	PIGA	OMIM:300868
HP:0010668	Abnormal zygomatic bone morphology	8985	PLOD3	OMIM:612394
HP:0010668	Abnormal zygomatic bone morphology	79633	FAT4	OMIM:615546
HP:0010668	Abnormal zygomatic bone morphology	9343	EFTUD2	OMIM:610536
HP:0010668	Abnormal zygomatic bone morphology	9343	EFTUD2	ORPHA:79113
HP:0010668	Abnormal zygomatic bone morphology	84172	POLR1B	OMIM:618939
HP:0010668	Abnormal zygomatic bone morphology	84172	POLR1B	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	6628	SNRPB	OMIM:117650
HP:0010668	Abnormal zygomatic bone morphology	2892	GRIA3	ORPHA:364028
HP:0010668	Abnormal zygomatic bone morphology	51604	PIGT	ORPHA:369837
HP:0010668	Abnormal zygomatic bone morphology	5702	PSMC3	OMIM:619354
HP:0010668	Abnormal zygomatic bone morphology	4796	TONSL	OMIM:271510
HP:0010668	Abnormal zygomatic bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0010668	Abnormal zygomatic bone morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	23630	KCNE5	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	2182	ACSL4	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	9949	AMMECR1	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	51082	POLR1D	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	51082	POLR1D	OMIM:613717
HP:0010668	Abnormal zygomatic bone morphology	4841	NONO	OMIM:300967
HP:0010668	Abnormal zygomatic bone morphology	4841	NONO	ORPHA:466791
HP:0010668	Abnormal zygomatic bone morphology	51715	RAB23	OMIM:201000
HP:0010668	Abnormal zygomatic bone morphology	25839	COG4	ORPHA:85172
HP:0010668	Abnormal zygomatic bone morphology	3756	KCNH1	ORPHA:420561
HP:0010668	Abnormal zygomatic bone morphology	126792	B3GALT6	OMIM:271640
HP:0010668	Abnormal zygomatic bone morphology	9759	HDAC4	OMIM:600430
HP:0010668	Abnormal zygomatic bone morphology	4094	MAF	OMIM:601088
HP:0010668	Abnormal zygomatic bone morphology	5295	PIK3R1	ORPHA:3163
HP:0010668	Abnormal zygomatic bone morphology	4256	MGP	OMIM:245150
HP:0010668	Abnormal zygomatic bone morphology	523	ATP6V1A	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	529	ATP6V1E1	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	529	ATP6V1E1	OMIM:617402
HP:0010668	Abnormal zygomatic bone morphology	29920	PYCR2	OMIM:616420
HP:0010668	Abnormal zygomatic bone morphology	178	AGL	OMIM:232400
HP:0010668	Abnormal zygomatic bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0010668	Abnormal zygomatic bone morphology	387	RHOA	OMIM:618727
HP:0010668	Abnormal zygomatic bone morphology	5449	POU1F1	OMIM:613038
HP:0010668	Abnormal zygomatic bone morphology	4693	NDP	ORPHA:649
HP:0010668	Abnormal zygomatic bone morphology	9939	RBM8A	OMIM:274000
HP:0010668	Abnormal zygomatic bone morphology	6496	SIX3	OMIM:157170
HP:0010668	Abnormal zygomatic bone morphology	7474	WNT5A	OMIM:180700
HP:0010668	Abnormal zygomatic bone morphology	1855	DVL1	OMIM:180700
HP:0010668	Abnormal zygomatic bone morphology	5573	PRKAR1A	ORPHA:280651
HP:0010668	Abnormal zygomatic bone morphology	9130	FAM50A	OMIM:300261
HP:0010668	Abnormal zygomatic bone morphology	4204	MECP2	OMIM:300260
HP:0010668	Abnormal zygomatic bone morphology	2535	FZD2	ORPHA:93328
HP:0010668	Abnormal zygomatic bone morphology	5077	PAX3	OMIM:122880
HP:0010668	Abnormal zygomatic bone morphology	871	SERPINH1	OMIM:613848
HP:0010668	Abnormal zygomatic bone morphology	121340	SP7	OMIM:613849
HP:0010668	Abnormal zygomatic bone morphology	4683	NBN	OMIM:251260
HP:0010668	Abnormal zygomatic bone morphology	81887	LAS1L	ORPHA:3459
HP:0010668	Abnormal zygomatic bone morphology	55869	HDAC8	ORPHA:3459
HP:0010668	Abnormal zygomatic bone morphology	9150	CTDP1	OMIM:604168
HP:0010668	Abnormal zygomatic bone morphology	9150	CTDP1	ORPHA:48431
HP:0010668	Abnormal zygomatic bone morphology	286053	NSMCE2	ORPHA:436182
HP:0010668	Abnormal zygomatic bone morphology	7518	XRCC4	ORPHA:436182
HP:0010668	Abnormal zygomatic bone morphology	3043	HBB	ORPHA:231226
HP:0010668	Abnormal zygomatic bone morphology	3043	HBB	ORPHA:231214
HP:0010668	Abnormal zygomatic bone morphology	23019	CNOT1	ORPHA:556955
HP:0010668	Abnormal zygomatic bone morphology	23019	CNOT1	OMIM:618500
HP:0010668	Abnormal zygomatic bone morphology	157680	VPS13B	ORPHA:193
HP:0010668	Abnormal zygomatic bone morphology	51594	NBAS	OMIM:614800
HP:0010668	Abnormal zygomatic bone morphology	6804	STX1A	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	7461	CLIP2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	84277	DNAJC30	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	8468	FKBP6	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	5982	RFC2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	2969	GTF2I	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	3984	LIMK1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	155382	VPS37D	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	155368	METTL27	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	114049	BUD23	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	7458	EIF4H	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	9275	BCL7B	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	26608	TBL2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	653361	NCF1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	135886	TMEM270	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	9031	BAZ1B	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	5604	MAP2K1	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	5605	MAP2K2	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	3845	KRAS	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	673	BRAF	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	8481	OFD1	ORPHA:2750
HP:0010668	Abnormal zygomatic bone morphology	5184	PEPD	ORPHA:742
HP:0010668	Abnormal zygomatic bone morphology	9723	SEMA3E	ORPHA:138
HP:0010668	Abnormal zygomatic bone morphology	760	CA2	ORPHA:2785
HP:0010668	Abnormal zygomatic bone morphology	117581	TWIST2	OMIM:200110
HP:0010668	Abnormal zygomatic bone morphology	25885	POLR1A	OMIM:616462
HP:0012364	Decreased urinary potassium	866	SERPINA6	OMIM:611489
HP:0012364	Decreased urinary potassium	100134444	KCNJ18	ORPHA:79102
HP:0012364	Decreased urinary potassium	2556	GABRA3	ORPHA:79102
HP:0012364	Decreased urinary potassium	779	CACNA1S	ORPHA:79102
HP:0012364	Decreased urinary potassium	1188	CLCNKB	ORPHA:358
HP:0012364	Decreased urinary potassium	6559	SLC12A3	ORPHA:358
HP:0012365	Hypophosphaturia	54757	FAM20A	ORPHA:1031
HP:0012366	Basilar invagination	22943	DKK1	ORPHA:268882
HP:0012366	Basilar invagination	126792	B3GALT6	ORPHA:536467
HP:0012366	Basilar invagination	55719	SLF2	OMIM:620184
HP:0012366	Basilar invagination	4617	MYF5	OMIM:618155
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	54344	DPM3	ORPHA:263494
HP:0009314	Symphalangism affecting the proximal phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0002150	Hypercalciuria	9949	AMMECR1	OMIM:300990
HP:0002150	Hypercalciuria	7809	BSND	ORPHA:89938
HP:0002150	Hypercalciuria	1188	CLCNKB	ORPHA:89938
HP:0002150	Hypercalciuria	1187	CLCNKA	ORPHA:89938
HP:0002150	Hypercalciuria	4952	OCRL	OMIM:300555
HP:0002150	Hypercalciuria	4952	OCRL	ORPHA:534
HP:0002150	Hypercalciuria	1184	CLCN5	OMIM:300554
HP:0002150	Hypercalciuria	1184	CLCN5	OMIM:308990
HP:0002150	Hypercalciuria	1184	CLCN5	OMIM:300009
HP:0002150	Hypercalciuria	1184	CLCN5	OMIM:310468
HP:0002150	Hypercalciuria	51604	PIGT	OMIM:615398
HP:0002150	Hypercalciuria	51604	PIGT	ORPHA:369837
HP:0002150	Hypercalciuria	142680	SLC34A3	OMIM:241530
HP:0002150	Hypercalciuria	142680	SLC34A3	ORPHA:157215
HP:0002150	Hypercalciuria	6569	SLC34A1	OMIM:616963
HP:0002150	Hypercalciuria	6569	SLC34A1	OMIM:612286
HP:0002150	Hypercalciuria	6569	SLC34A1	OMIM:613388
HP:0002150	Hypercalciuria	6569	SLC34A1	ORPHA:3337
HP:0002150	Hypercalciuria	6569	SLC34A1	ORPHA:157215
HP:0002150	Hypercalciuria	3643	INSR	ORPHA:508
HP:0002150	Hypercalciuria	6804	STX1A	ORPHA:904
HP:0002150	Hypercalciuria	7461	CLIP2	ORPHA:904
HP:0002150	Hypercalciuria	84277	DNAJC30	ORPHA:904
HP:0002150	Hypercalciuria	8468	FKBP6	ORPHA:904
HP:0002150	Hypercalciuria	5982	RFC2	ORPHA:904
HP:0002150	Hypercalciuria	2969	GTF2I	ORPHA:904
HP:0002150	Hypercalciuria	3984	LIMK1	ORPHA:904
HP:0002150	Hypercalciuria	9569	GTF2IRD1	ORPHA:904
HP:0002150	Hypercalciuria	155382	VPS37D	ORPHA:904
HP:0002150	Hypercalciuria	155368	METTL27	ORPHA:904
HP:0002150	Hypercalciuria	114049	BUD23	ORPHA:904
HP:0002150	Hypercalciuria	7458	EIF4H	ORPHA:904
HP:0002150	Hypercalciuria	84163	GTF2IRD2	ORPHA:904
HP:0002150	Hypercalciuria	9275	BCL7B	ORPHA:904
HP:0002150	Hypercalciuria	26608	TBL2	ORPHA:904
HP:0002150	Hypercalciuria	653361	NCF1	ORPHA:904
HP:0002150	Hypercalciuria	135886	TMEM270	ORPHA:904
HP:0002150	Hypercalciuria	51085	MLXIPL	ORPHA:904
HP:0002150	Hypercalciuria	51085	MLXIPL	OMIM:194050
HP:0002150	Hypercalciuria	9031	BAZ1B	ORPHA:904
HP:0002150	Hypercalciuria	2006	ELN	ORPHA:904
HP:0002150	Hypercalciuria	2006	ELN	OMIM:194050
HP:0002150	Hypercalciuria	2767	GNA11	ORPHA:428
HP:0002150	Hypercalciuria	846	CASR	ORPHA:428
HP:0002150	Hypercalciuria	846	CASR	OMIM:601198
HP:0002150	Hypercalciuria	846	CASR	OMIM:145980
HP:0002150	Hypercalciuria	846	CASR	OMIM:239200
HP:0002150	Hypercalciuria	56606	SLC2A9	ORPHA:94088
HP:0002150	Hypercalciuria	116085	SLC22A12	ORPHA:94088
HP:0002150	Hypercalciuria	55811	ADCY10	OMIM:143870
HP:0002150	Hypercalciuria	55811	ADCY10	ORPHA:2197
HP:0002150	Hypercalciuria	79577	CDC73	ORPHA:143
HP:0002150	Hypercalciuria	79577	CDC73	ORPHA:99880
HP:0002150	Hypercalciuria	79577	CDC73	ORPHA:99879
HP:0002150	Hypercalciuria	6514	SLC2A2	OMIM:227810
HP:0002150	Hypercalciuria	6514	SLC2A2	ORPHA:2088
HP:0002150	Hypercalciuria	249	ALPL	OMIM:241500
HP:0002150	Hypercalciuria	10686	CLDN16	OMIM:248250
HP:0002150	Hypercalciuria	540	ATP7B	OMIM:277900
HP:0002150	Hypercalciuria	1962	EHHADH	ORPHA:3337
HP:0002150	Hypercalciuria	2628	GATM	ORPHA:3337
HP:0002150	Hypercalciuria	137682	NDUFAF6	ORPHA:3337
HP:0002150	Hypercalciuria	4221	MEN1	ORPHA:652
HP:0002150	Hypercalciuria	4221	MEN1	ORPHA:99879
HP:0002150	Hypercalciuria	1027	CDKN1B	ORPHA:652
HP:0002150	Hypercalciuria	1026	CDKN1A	ORPHA:652
HP:0002150	Hypercalciuria	1030	CDKN2B	ORPHA:652
HP:0002150	Hypercalciuria	1031	CDKN2C	ORPHA:652
HP:0002150	Hypercalciuria	10916	MAGED2	OMIM:300971
HP:0002150	Hypercalciuria	2212	FCGR2A	OMIM:219700
HP:0002150	Hypercalciuria	7040	TGFB1	OMIM:219700
HP:0002150	Hypercalciuria	1080	CFTR	OMIM:219700
HP:0002150	Hypercalciuria	3123	HLA-DRB1	OMIM:181000
HP:0002150	Hypercalciuria	3123	HLA-DRB1	ORPHA:797
HP:0002150	Hypercalciuria	5745	PTH1R	OMIM:156400
HP:0002150	Hypercalciuria	8074	FGF23	OMIM:617993
HP:0002150	Hypercalciuria	5286	PIK3C2A	OMIM:618440
HP:0002150	Hypercalciuria	3762	KCNJ5	OMIM:613677
HP:0002150	Hypercalciuria	3762	KCNJ5	ORPHA:251274
HP:0002150	Hypercalciuria	6928	HNF1B	ORPHA:1309
HP:0002150	Hypercalciuria	9247	GCM2	ORPHA:99879
HP:0002150	Hypercalciuria	9247	GCM2	ORPHA:2239
HP:0002150	Hypercalciuria	4982	TNFRSF11B	OMIM:239000
HP:0002150	Hypercalciuria	50617	ATP6V0A4	OMIM:602722
HP:0002150	Hypercalciuria	6557	SLC12A1	OMIM:601678
HP:0002150	Hypercalciuria	3758	KCNJ1	OMIM:241200
HP:0002150	Hypercalciuria	149461	CLDN19	OMIM:248190
HP:0002150	Hypercalciuria	1591	CYP24A1	OMIM:143880
HP:0002150	Hypercalciuria	1028	CDKN1C	OMIM:614732
HP:0002150	Hypercalciuria	56244	BTNL2	ORPHA:797
HP:0002152	Hyperproteinemia	595	CCND1	ORPHA:29073
HP:0002153	Hyperkalemia	5076	PAX2	ORPHA:97362
HP:0002153	Hyperkalemia	5087	PBX1	ORPHA:97362
HP:0002153	Hyperkalemia	4791	NFKB2	ORPHA:293978
HP:0002153	Hyperkalemia	5447	POR	OMIM:201750
HP:0002153	Hyperkalemia	54809	SAMD9	OMIM:617053
HP:0002153	Hyperkalemia	6261	RYR1	ORPHA:466650
HP:0002153	Hyperkalemia	6261	RYR1	ORPHA:423
HP:0002153	Hyperkalemia	6261	RYR1	OMIM:145600
HP:0002153	Hyperkalemia	10058	ABCB6	ORPHA:90044
HP:0002153	Hyperkalemia	10058	ABCB6	OMIM:609153
HP:0002153	Hyperkalemia	100134444	KCNJ18	ORPHA:79102
HP:0002153	Hyperkalemia	2556	GABRA3	ORPHA:79102
HP:0002153	Hyperkalemia	779	CACNA1S	ORPHA:79102
HP:0002153	Hyperkalemia	779	CACNA1S	ORPHA:423
HP:0002153	Hyperkalemia	23175	LPIN1	OMIM:268200
HP:0002153	Hyperkalemia	23175	LPIN1	ORPHA:99845
HP:0002153	Hyperkalemia	6340	SCNN1G	ORPHA:171876
HP:0002153	Hyperkalemia	6340	SCNN1G	OMIM:620126
HP:0002153	Hyperkalemia	6337	SCNN1A	ORPHA:171876
HP:0002153	Hyperkalemia	6337	SCNN1A	OMIM:264350
HP:0002153	Hyperkalemia	6338	SCNN1B	ORPHA:171876
HP:0002153	Hyperkalemia	6338	SCNN1B	OMIM:620125
HP:0002153	Hyperkalemia	4306	NR3C2	OMIM:177735
HP:0002153	Hyperkalemia	4512	MT-CO1	ORPHA:99845
HP:0002153	Hyperkalemia	4514	MT-CO3	ORPHA:99845
HP:0002153	Hyperkalemia	6513	SLC2A1	OMIM:608885
HP:0002153	Hyperkalemia	3284	HSD3B2	ORPHA:90791
HP:0002153	Hyperkalemia	3284	HSD3B2	OMIM:201810
HP:0002153	Hyperkalemia	771	CA12	OMIM:143860
HP:0002153	Hyperkalemia	9095	TBX19	ORPHA:199296
HP:0002153	Hyperkalemia	6329	SCN4A	OMIM:170500
HP:0002153	Hyperkalemia	6329	SCN4A	ORPHA:682
HP:0002153	Hyperkalemia	10463	SLC30A9	OMIM:617595
HP:0002153	Hyperkalemia	11232	POLG2	OMIM:618528
HP:0002153	Hyperkalemia	1583	CYP11A1	ORPHA:168558
HP:0002153	Hyperkalemia	1583	CYP11A1	ORPHA:289548
HP:0002153	Hyperkalemia	1585	CYP11B2	OMIM:203400
HP:0002153	Hyperkalemia	1585	CYP11B2	OMIM:610600
HP:0002153	Hyperkalemia	1585	CYP11B2	ORPHA:556030
HP:0002153	Hyperkalemia	6522	SLC4A2	OMIM:620366
HP:0002153	Hyperkalemia	226	ALDOA	ORPHA:57
HP:0002153	Hyperkalemia	56246	MRAP	ORPHA:361
HP:0002153	Hyperkalemia	6770	STAR	ORPHA:361
HP:0002153	Hyperkalemia	4158	MC2R	ORPHA:361
HP:0002153	Hyperkalemia	23530	NNT	ORPHA:361
HP:0002153	Hyperkalemia	23530	NNT	OMIM:614736
HP:0002153	Hyperkalemia	10587	TXNRD2	ORPHA:361
HP:0002153	Hyperkalemia	65266	WNK4	OMIM:614491
HP:0002153	Hyperkalemia	65125	WNK1	OMIM:614492
HP:0002153	Hyperkalemia	26249	KLHL3	OMIM:614495
HP:0002153	Hyperkalemia	8452	CUL3	OMIM:614496
HP:0002153	Hyperkalemia	27130	INVS	OMIM:602088
HP:0002154	Hyperglycinemia	2731	GLDC	OMIM:605899
HP:0002154	Hyperglycinemia	275	AMT	OMIM:605899
HP:0002154	Hyperglycinemia	8802	SUCLG1	OMIM:245400
HP:0002154	Hyperglycinemia	100303755	PET117	OMIM:619063
HP:0002154	Hyperglycinemia	29968	PSAT1	ORPHA:284417
HP:0002154	Hyperglycinemia	9056	SLC7A7	ORPHA:470
HP:0002154	Hyperglycinemia	27247	NFU1	OMIM:605711
HP:0002154	Hyperglycinemia	1351	COX8A	OMIM:619059
HP:0002154	Hyperglycinemia	348932	SLC6A18	ORPHA:42062
HP:0002154	Hyperglycinemia	153201	SLC36A2	ORPHA:42062
HP:0002154	Hyperglycinemia	54716	SLC6A20	ORPHA:42062
HP:0002154	Hyperglycinemia	340024	SLC6A19	ORPHA:42062
HP:0002154	Hyperglycinemia	9054	NFS1	OMIM:619386
HP:0002154	Hyperglycinemia	200205	IBA57	OMIM:615330
HP:0002154	Hyperglycinemia	55532	SLC30A10	ORPHA:309854
HP:0002154	Hyperglycinemia	388962	BOLA3	OMIM:614299
HP:0002154	Hyperglycinemia	498	ATP5F1A	OMIM:620358
HP:0002154	Hyperglycinemia	8659	ALDH4A1	ORPHA:79101
HP:0002154	Hyperglycinemia	51218	GLRX5	OMIM:616859
HP:0002154	Hyperglycinemia	326625	MMAB	OMIM:251110
HP:0002154	Hyperglycinemia	4594	MMUT	OMIM:251000
HP:0002154	Hyperglycinemia	132158	GLYCTK	ORPHA:941
HP:0002154	Hyperglycinemia	166785	MMAA	OMIM:251100
HP:0002154	Hyperglycinemia	5095	PCCA	OMIM:606054
HP:0002154	Hyperglycinemia	5096	PCCB	OMIM:606054
HP:0002154	Hyperglycinemia	3664	IRF6	ORPHA:1300
HP:0002155	Hypertriglyceridemia	83483	PLVAP	OMIM:618183
HP:0002155	Hypertriglyceridemia	2235	FECH	OMIM:177000
HP:0002155	Hypertriglyceridemia	201294	UNC13D	OMIM:608898
HP:0002155	Hypertriglyceridemia	201294	UNC13D	ORPHA:540
HP:0002155	Hypertriglyceridemia	286053	NSMCE2	OMIM:617253
HP:0002155	Hypertriglyceridemia	286053	NSMCE2	ORPHA:436182
HP:0002155	Hypertriglyceridemia	55388	MCM10	OMIM:619313
HP:0002155	Hypertriglyceridemia	63036	CELA2A	OMIM:618620
HP:0002155	Hypertriglyceridemia	331	XIAP	OMIM:300635
HP:0002155	Hypertriglyceridemia	4160	MC4R	ORPHA:71529
HP:0002155	Hypertriglyceridemia	3990	LIPC	OMIM:614025
HP:0002155	Hypertriglyceridemia	3990	LIPC	ORPHA:140905
HP:0002155	Hypertriglyceridemia	19	ABCA1	OMIM:205400
HP:0002155	Hypertriglyceridemia	19	ABCA1	OMIM:604091
HP:0002155	Hypertriglyceridemia	19	ABCA1	ORPHA:31150
HP:0002155	Hypertriglyceridemia	63924	CIDEC	OMIM:615238
HP:0002155	Hypertriglyceridemia	63924	CIDEC	ORPHA:435651
HP:0002155	Hypertriglyceridemia	857	CAV1	OMIM:612526
HP:0002155	Hypertriglyceridemia	857	CAV1	OMIM:606721
HP:0002155	Hypertriglyceridemia	857	CAV1	ORPHA:528
HP:0002155	Hypertriglyceridemia	5551	PRF1	ORPHA:540
HP:0002155	Hypertriglyceridemia	5551	PRF1	OMIM:603553
HP:0002155	Hypertriglyceridemia	8676	STX11	ORPHA:540
HP:0002155	Hypertriglyceridemia	8676	STX11	OMIM:603552
HP:0002155	Hypertriglyceridemia	6813	STXBP2	ORPHA:540
HP:0002155	Hypertriglyceridemia	6813	STXBP2	OMIM:613101
HP:0002155	Hypertriglyceridemia	10165	SLC25A13	OMIM:605814
HP:0002155	Hypertriglyceridemia	10165	SLC25A13	OMIM:603471
HP:0002155	Hypertriglyceridemia	10165	SLC25A13	ORPHA:247598
HP:0002155	Hypertriglyceridemia	10165	SLC25A13	ORPHA:247585
HP:0002155	Hypertriglyceridemia	26580	BSCL2	ORPHA:363400
HP:0002155	Hypertriglyceridemia	26580	BSCL2	OMIM:615924
HP:0002155	Hypertriglyceridemia	26580	BSCL2	OMIM:269700
HP:0002155	Hypertriglyceridemia	26580	BSCL2	ORPHA:528
HP:0002155	Hypertriglyceridemia	84699	CREB3L3	OMIM:619324
HP:0002155	Hypertriglyceridemia	2314	FLII	ORPHA:819
HP:0002155	Hypertriglyceridemia	23096	IQSEC2	ORPHA:819
HP:0002155	Hypertriglyceridemia	10743	RAI1	ORPHA:819
HP:0002155	Hypertriglyceridemia	10743	RAI1	OMIM:182290
HP:0002155	Hypertriglyceridemia	10522	DEAF1	ORPHA:819
HP:0002155	Hypertriglyceridemia	3952	LEP	ORPHA:66628
HP:0002155	Hypertriglyceridemia	7486	WRN	OMIM:277700
HP:0002155	Hypertriglyceridemia	348	APOE	ORPHA:412
HP:0002155	Hypertriglyceridemia	2710	GK	OMIM:307030
HP:0002155	Hypertriglyceridemia	2542	SLC37A4	ORPHA:79259
HP:0002155	Hypertriglyceridemia	6609	SMPD1	ORPHA:77293
HP:0002155	Hypertriglyceridemia	6609	SMPD1	OMIM:607616
HP:0002155	Hypertriglyceridemia	5699	PSMB10	OMIM:619175
HP:0002155	Hypertriglyceridemia	50619	DEF6	OMIM:619573
HP:0002155	Hypertriglyceridemia	3988	LIPA	OMIM:278000
HP:0002155	Hypertriglyceridemia	3988	LIPA	ORPHA:75234
HP:0002155	Hypertriglyceridemia	5468	PPARG	ORPHA:79083
HP:0002155	Hypertriglyceridemia	5468	PPARG	OMIM:604367
HP:0002155	Hypertriglyceridemia	5468	PPARG	ORPHA:528
HP:0002155	Hypertriglyceridemia	9149	DYRK1B	OMIM:615812
HP:0002155	Hypertriglyceridemia	208	AKT2	ORPHA:79085
HP:0002155	Hypertriglyceridemia	5346	PLIN1	OMIM:613877
HP:0002155	Hypertriglyceridemia	5346	PLIN1	ORPHA:280356
HP:0002155	Hypertriglyceridemia	5257	PHKB	ORPHA:79240
HP:0002155	Hypertriglyceridemia	284654	RSPO1	OMIM:610644
HP:0002155	Hypertriglyceridemia	7840	ALMS1	OMIM:203800
HP:0002155	Hypertriglyceridemia	7840	ALMS1	ORPHA:64
HP:0002155	Hypertriglyceridemia	1581	CYP7A1	ORPHA:209902
HP:0002155	Hypertriglyceridemia	10555	AGPAT2	OMIM:608594
HP:0002155	Hypertriglyceridemia	10555	AGPAT2	ORPHA:528
HP:0002155	Hypertriglyceridemia	1130	LYST	ORPHA:167
HP:0002155	Hypertriglyceridemia	5424	POLD1	OMIM:615381
HP:0002155	Hypertriglyceridemia	4000	LMNA	OMIM:151660
HP:0002155	Hypertriglyceridemia	4000	LMNA	OMIM:616516
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:79474
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:280365
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:363618
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:98855
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:98853
HP:0002155	Hypertriglyceridemia	4000	LMNA	ORPHA:2348
HP:0002155	Hypertriglyceridemia	5283	PIGH	OMIM:618010
HP:0002155	Hypertriglyceridemia	3953	LEPR	ORPHA:179494
HP:0002155	Hypertriglyceridemia	84984	CEP19	OMIM:615703
HP:0002155	Hypertriglyceridemia	338328	GPIHBP1	OMIM:615947
HP:0002155	Hypertriglyceridemia	165	AEBP1	ORPHA:536532
HP:0002155	Hypertriglyceridemia	9056	SLC7A7	ORPHA:470
HP:0002155	Hypertriglyceridemia	8879	SGPL1	OMIM:617575
HP:0002155	Hypertriglyceridemia	51604	PIGT	ORPHA:369837
HP:0002155	Hypertriglyceridemia	3991	LIPE	ORPHA:435660
HP:0002155	Hypertriglyceridemia	5836	PYGL	OMIM:232700
HP:0002155	Hypertriglyceridemia	338	APOB	OMIM:615558
HP:0002155	Hypertriglyceridemia	11128	POLR3A	OMIM:264090
HP:0002155	Hypertriglyceridemia	11128	POLR3A	ORPHA:3455
HP:0002155	Hypertriglyceridemia	4040	LRP6	OMIM:610947
HP:0002155	Hypertriglyceridemia	3931	LCAT	OMIM:245900
HP:0002155	Hypertriglyceridemia	3931	LCAT	OMIM:136120
HP:0002155	Hypertriglyceridemia	84868	HAVCR2	OMIM:618398
HP:0002155	Hypertriglyceridemia	10651	MTX2	OMIM:619127
HP:0002155	Hypertriglyceridemia	5261	PHKG2	OMIM:613027
HP:0002155	Hypertriglyceridemia	5261	PHKG2	ORPHA:264580
HP:0002155	Hypertriglyceridemia	182	JAG1	OMIM:118450
HP:0002155	Hypertriglyceridemia	6514	SLC2A2	ORPHA:2088
HP:0002155	Hypertriglyceridemia	7274	TTPA	OMIM:277460
HP:0002155	Hypertriglyceridemia	5294	PIK3CG	OMIM:619802
HP:0002155	Hypertriglyceridemia	7518	XRCC4	ORPHA:436182
HP:0002155	Hypertriglyceridemia	51128	SAR1B	ORPHA:71
HP:0002155	Hypertriglyceridemia	57104	PNPLA2	OMIM:610717
HP:0002155	Hypertriglyceridemia	57104	PNPLA2	ORPHA:98908
HP:0002155	Hypertriglyceridemia	2819	GPD1	OMIM:614480
HP:0002155	Hypertriglyceridemia	5692	PSMB4	OMIM:617591
HP:0002155	Hypertriglyceridemia	5698	PSMB9	OMIM:617591
HP:0002155	Hypertriglyceridemia	2193	FARSA	OMIM:619013
HP:0002155	Hypertriglyceridemia	8565	YARS1	OMIM:619418
HP:0002155	Hypertriglyceridemia	51099	ABHD5	ORPHA:98907
HP:0002155	Hypertriglyceridemia	116519	APOA5	OMIM:145750
HP:0002155	Hypertriglyceridemia	284119	CAVIN1	ORPHA:528
HP:0002155	Hypertriglyceridemia	284119	CAVIN1	OMIM:613327
HP:0002155	Hypertriglyceridemia	2353	FOS	ORPHA:528
HP:0002155	Hypertriglyceridemia	2273	FHL1	ORPHA:98863
HP:0002155	Hypertriglyceridemia	2010	EMD	ORPHA:98863
HP:0002155	Hypertriglyceridemia	178	AGL	ORPHA:366
HP:0002155	Hypertriglyceridemia	26119	LDLRAP1	OMIM:603813
HP:0002155	Hypertriglyceridemia	64788	LMF1	OMIM:246650
HP:0002155	Hypertriglyceridemia	5256	PHKA2	ORPHA:264580
HP:0002155	Hypertriglyceridemia	5256	PHKA2	OMIM:306000
HP:0002155	Hypertriglyceridemia	344	APOC2	OMIM:207750
HP:0002155	Hypertriglyceridemia	109	ADCY3	OMIM:617885
HP:0002155	Hypertriglyceridemia	55315	SLC29A3	ORPHA:168569
HP:0002155	Hypertriglyceridemia	5696	PSMB8	OMIM:256040
HP:0002155	Hypertriglyceridemia	79188	TMEM43	ORPHA:98853
HP:0002155	Hypertriglyceridemia	23345	SYNE1	ORPHA:98853
HP:0002155	Hypertriglyceridemia	23224	SYNE2	ORPHA:98853
HP:0002155	Hypertriglyceridemia	4023	LPL	OMIM:238600
HP:0002156	Homocystinuria	444	ASPH	OMIM:601552
HP:0002156	Homocystinuria	4552	MTRR	OMIM:236270
HP:0002156	Homocystinuria	4524	MTHFR	OMIM:236250
HP:0002156	Homocystinuria	4524	MTHFR	ORPHA:395
HP:0002156	Homocystinuria	55788	LMBRD1	OMIM:277380
HP:0002156	Homocystinuria	3054	HCFC1	OMIM:309541
HP:0002156	Homocystinuria	875	CBS	OMIM:236200
HP:0002156	Homocystinuria	5826	ABCD4	OMIM:614857
HP:0002156	Homocystinuria	4548	MTR	OMIM:250940
HP:0002156	Homocystinuria	27249	MMADHC	OMIM:277410
HP:0002156	Homocystinuria	25974	MMACHC	OMIM:277400
HP:0002156	Homocystinuria	5052	PRDX1	OMIM:277400
HP:0002157	Azotemia	435	ASL	ORPHA:23
HP:0002157	Azotemia	435	ASL	OMIM:207900
HP:0002157	Azotemia	4594	MMUT	ORPHA:289916
HP:0002157	Azotemia	4594	MMUT	OMIM:251000
HP:0002157	Azotemia	4594	MMUT	ORPHA:79312
HP:0002157	Azotemia	10128	LRPPRC	OMIM:220111
HP:0002157	Azotemia	3155	HMGCL	ORPHA:20
HP:0002157	Azotemia	3155	HMGCL	OMIM:246450
HP:0002157	Azotemia	3376	IARS1	OMIM:617093
HP:0002157	Azotemia	26235	FBXL4	OMIM:615471
HP:0002157	Azotemia	763	CA5A	OMIM:615751
HP:0002157	Azotemia	5009	OTC	OMIM:311250
HP:0002157	Azotemia	5009	OTC	ORPHA:664
HP:0002157	Azotemia	25821	MTO1	OMIM:614702
HP:0002157	Azotemia	10102	TSFM	OMIM:610505
HP:0002157	Azotemia	5095	PCCA	ORPHA:35
HP:0002157	Azotemia	5095	PCCA	OMIM:606054
HP:0002157	Azotemia	5096	PCCB	ORPHA:35
HP:0002157	Azotemia	5096	PCCB	OMIM:606054
HP:0002157	Azotemia	56945	MRPS22	OMIM:611719
HP:0002157	Azotemia	1373	CPS1	ORPHA:147
HP:0002157	Azotemia	1373	CPS1	OMIM:237300
HP:0002157	Azotemia	54968	TMEM70	ORPHA:1194
HP:0002157	Azotemia	54968	TMEM70	OMIM:614052
HP:0002157	Azotemia	4141	MARS1	OMIM:615486
HP:0002157	Azotemia	1376	CPT2	OMIM:600649
HP:0002157	Azotemia	1376	CPT2	OMIM:608836
HP:0002157	Azotemia	1376	CPT2	ORPHA:228308
HP:0002157	Azotemia	790	CAD	OMIM:616457
HP:0002157	Azotemia	10157	AASS	ORPHA:2203
HP:0002157	Azotemia	10157	AASS	ORPHA:3124
HP:0002157	Azotemia	3141	HLCS	OMIM:253270
HP:0002157	Azotemia	3141	HLCS	ORPHA:79242
HP:0002157	Azotemia	4204	MECP2	ORPHA:778
HP:0002157	Azotemia	10166	SLC25A15	ORPHA:415
HP:0002157	Azotemia	10166	SLC25A15	OMIM:238970
HP:0002157	Azotemia	1340	COX6B1	OMIM:619051
HP:0002157	Azotemia	1738	DLD	ORPHA:2394
HP:0002157	Azotemia	60561	RINT1	OMIM:618641
HP:0002157	Azotemia	513	ATP5F1D	OMIM:618120
HP:0002157	Azotemia	686	BTD	OMIM:253260
HP:0002157	Azotemia	686	BTD	ORPHA:79241
HP:0002157	Azotemia	128989	TANGO2	ORPHA:480864
HP:0002157	Azotemia	128989	TANGO2	OMIM:616878
HP:0002157	Azotemia	9056	SLC7A7	OMIM:222700
HP:0002157	Azotemia	9056	SLC7A7	ORPHA:470
HP:0002157	Azotemia	4700	NDUFA6	OMIM:618253
HP:0002157	Azotemia	9971	NR1H4	OMIM:617049
HP:0002157	Azotemia	2752	GLUL	OMIM:610015
HP:0002157	Azotemia	284439	SLC25A42	OMIM:618416
HP:0002157	Azotemia	84947	SERAC1	OMIM:614739
HP:0002157	Azotemia	28976	ACAD9	ORPHA:99901
HP:0002157	Azotemia	55186	SLC25A36	OMIM:620211
HP:0002157	Azotemia	326625	MMAB	OMIM:251110
HP:0002157	Azotemia	788	SLC25A20	ORPHA:159
HP:0002157	Azotemia	788	SLC25A20	OMIM:212138
HP:0002157	Azotemia	383	ARG1	ORPHA:90
HP:0002157	Azotemia	383	ARG1	OMIM:207800
HP:0002157	Azotemia	3028	HSD17B10	ORPHA:391428
HP:0002157	Azotemia	51594	NBAS	OMIM:616483
HP:0002157	Azotemia	37	ACADVL	OMIM:201475
HP:0002157	Azotemia	37	ACADVL	ORPHA:26793
HP:0002157	Azotemia	54914	FOCAD	OMIM:619991
HP:0002157	Azotemia	166785	MMAA	OMIM:251100
HP:0002157	Azotemia	7385	UQCRC2	OMIM:615160
HP:0002157	Azotemia	5162	PDHB	OMIM:614111
HP:0002157	Azotemia	440138	ALG11	OMIM:613661
HP:0002157	Azotemia	498	ATP5F1A	OMIM:620358
HP:0002157	Azotemia	3033	HADH	ORPHA:71212
HP:0002157	Azotemia	5832	ALDH18A1	OMIM:219150
HP:0002157	Azotemia	7284	TUFM	OMIM:610678
HP:0002157	Azotemia	3030	HADHA	OMIM:609015
HP:0002157	Azotemia	38	ACAT1	ORPHA:134
HP:0002157	Azotemia	34	ACADM	ORPHA:42
HP:0002157	Azotemia	1537	CYC1	OMIM:615453
HP:0002157	Azotemia	1374	CPT1A	OMIM:255120
HP:0002157	Azotemia	2806	GOT2	OMIM:618721
HP:0002157	Azotemia	29960	MRM2	OMIM:618567
HP:0002157	Azotemia	25974	MMACHC	ORPHA:79282
HP:0002157	Azotemia	445	ASS1	OMIM:215700
HP:0002157	Azotemia	9451	EIF2AK3	ORPHA:1667
HP:0002157	Azotemia	506	ATP5F1B	OMIM:620085
HP:0002157	Azotemia	79587	CARS2	OMIM:616672
HP:0002157	Azotemia	7388	UQCRH	OMIM:620137
HP:0002157	Azotemia	6584	SLC22A5	OMIM:212140
HP:0002157	Azotemia	25970	SH2B1	ORPHA:261222
HP:0002157	Azotemia	5972	REN	OMIM:613092
HP:0002157	Azotemia	229	ALDOB	OMIM:229600
HP:0002157	Azotemia	229	ALDOB	ORPHA:469
HP:0002157	Azotemia	5836	PYGL	OMIM:232700
HP:0002157	Azotemia	2542	SLC37A4	OMIM:232220
HP:0002157	Azotemia	2542	SLC37A4	ORPHA:79259
HP:0002157	Azotemia	2542	SLC37A4	OMIM:232240
HP:0002157	Azotemia	2203	FBP1	ORPHA:348
HP:0002157	Azotemia	4609	MYC	ORPHA:543
HP:0002157	Azotemia	5468	PPARG	OMIM:604367
HP:0002157	Azotemia	5468	PPARG	ORPHA:79083
HP:0002157	Azotemia	3998	LMAN1	ORPHA:35909
HP:0002157	Azotemia	90411	MCFD2	ORPHA:35909
HP:0002157	Azotemia	4982	TNFRSF11B	ORPHA:2801
HP:0002157	Azotemia	4982	TNFRSF11B	OMIM:239000
HP:0002157	Azotemia	8792	TNFRSF11A	ORPHA:2801
HP:0002157	Azotemia	10686	CLDN16	OMIM:248250
HP:0002157	Azotemia	5213	PFKM	ORPHA:371
HP:0002157	Azotemia	5213	PFKM	OMIM:232800
HP:0002157	Azotemia	7369	UMOD	OMIM:162000
HP:0002157	Azotemia	2538	G6PC1	OMIM:232200
HP:0002157	Azotemia	5837	PYGM	OMIM:232600
HP:0002157	Azotemia	7840	ALMS1	OMIM:203800
HP:0002157	Azotemia	5257	PHKB	OMIM:261750
HP:0002157	Azotemia	5256	PHKA2	OMIM:306000
HP:0002157	Azotemia	1285	COL4A3	OMIM:104200
HP:0002157	Azotemia	8882	ZPR1	OMIM:619321
HP:0002157	Azotemia	8518	ELP1	OMIM:223900
HP:0002157	Azotemia	1621	DBH	ORPHA:230
HP:0002157	Azotemia	1621	DBH	OMIM:223360
HP:0002157	Azotemia	51081	MRPS7	OMIM:617872
HP:0002157	Azotemia	11093	ADAMTS13	OMIM:274150
HP:0002157	Azotemia	4179	CD46	OMIM:612922
HP:0002157	Azotemia	54938	SARS2	OMIM:613845
HP:0002157	Azotemia	629	CFB	OMIM:612924
HP:0002157	Azotemia	3426	CFI	OMIM:612923
HP:0002157	Azotemia	7056	THBD	OMIM:612926
HP:0002157	Azotemia	3075	CFH	OMIM:235400
HP:0002157	Azotemia	3078	CFHR1	OMIM:235400
HP:0002157	Azotemia	10878	CFHR3	OMIM:235400
HP:0002157	Azotemia	718	C3	OMIM:612925
HP:0002157	Azotemia	22909	FAN1	OMIM:614817
HP:0002157	Azotemia	1161	ERCC8	ORPHA:90321
HP:0002157	Azotemia	2072	ERCC4	ORPHA:90321
HP:0002157	Azotemia	2074	ERCC6	ORPHA:90321
HP:0002157	Azotemia	5277	PIGA	ORPHA:447
HP:0002157	Azotemia	3043	HBB	ORPHA:232
HP:0002157	Azotemia	5311	PKD2	OMIM:613095
HP:0002157	Azotemia	5311	PKD2	ORPHA:730
HP:0002157	Azotemia	595	CCND1	ORPHA:29073
HP:0002157	Azotemia	57545	CC2D2A	OMIM:619111
HP:0002157	Azotemia	29927	SEC61A1	OMIM:617056
HP:0002157	Azotemia	2321	FLT1	ORPHA:275555
HP:0002157	Azotemia	219736	STOX1	ORPHA:275555
HP:0002157	Azotemia	10699	CORIN	ORPHA:275555
HP:0002157	Azotemia	4867	NPHP1	OMIM:266900
HP:0002157	Azotemia	10229	COQ7	OMIM:616733
HP:0002157	Azotemia	51726	DNAJB11	ORPHA:730
HP:0002157	Azotemia	23193	GANAB	ORPHA:730
HP:0002157	Azotemia	5310	PKD1	ORPHA:730
HP:0002157	Azotemia	29880	ALG5	ORPHA:730
HP:0002157	Azotemia	9742	IFT140	ORPHA:730
HP:0002157	Azotemia	79796	ALG9	ORPHA:730
HP:0002157	Azotemia	80114	BICC1	ORPHA:730
HP:0002157	Azotemia	79989	IFT56	OMIM:619534
HP:0002157	Azotemia	6521	SLC4A1	OMIM:179800
HP:0002157	Azotemia	6928	HNF1B	OMIM:137920
HP:0002157	Azotemia	54916	TMEM260	OMIM:617478
HP:0002157	Azotemia	353	APRT	OMIM:614723
HP:0002157	Azotemia	6522	SLC4A2	OMIM:620366
HP:0002157	Azotemia	5076	PAX2	OMIM:120330
HP:0002157	Azotemia	11277	TREX1	ORPHA:247691
HP:0002157	Azotemia	254428	SLC41A1	OMIM:619468
HP:0002157	Azotemia	57728	WDR19	OMIM:614376
HP:0002157	Azotemia	90523	MLIP	OMIM:620138
HP:0002157	Azotemia	4582	MUC1	OMIM:174000
HP:0002157	Azotemia	79053	ALG8	OMIM:608104
HP:0002157	Azotemia	3251	HPRT1	ORPHA:79233
HP:0002157	Azotemia	27130	INVS	OMIM:602088
HP:0002157	Azotemia	4860	PNP	ORPHA:760
HP:0002157	Azotemia	4860	PNP	OMIM:613179
HP:0002157	Azotemia	116085	SLC22A12	OMIM:220150
HP:0002157	Azotemia	116085	SLC22A12	ORPHA:94088
HP:0002157	Azotemia	6514	SLC2A2	OMIM:227810
HP:0002157	Azotemia	56606	SLC2A9	OMIM:612076
HP:0002157	Azotemia	56606	SLC2A9	ORPHA:94088
HP:0002157	Azotemia	10243	GPHN	OMIM:615501
HP:0002157	Azotemia	4337	MOCS1	OMIM:252150
HP:0002157	Azotemia	3172	HNF4A	OMIM:616026
HP:0002157	Azotemia	4338	MOCS2	OMIM:252160
HP:0002157	Azotemia	5631	PRPS1	ORPHA:1187
HP:0002157	Azotemia	1497	CTNS	ORPHA:411634
HP:0002157	Azotemia	540	ATP7B	OMIM:277900
HP:0002157	Azotemia	55034	MOCOS	OMIM:603592
HP:0002157	Azotemia	1962	EHHADH	ORPHA:3337
HP:0002157	Azotemia	2628	GATM	ORPHA:3337
HP:0002157	Azotemia	137682	NDUFAF6	ORPHA:3337
HP:0002157	Azotemia	6569	SLC34A1	ORPHA:3337
HP:0002157	Azotemia	2746	GLUD1	ORPHA:35878
HP:0002157	Azotemia	2746	GLUD1	OMIM:606762
HP:0002157	Azotemia	162417	NAGS	ORPHA:927
HP:0002157	Azotemia	10165	SLC25A13	ORPHA:247585
HP:0002157	Azotemia	56922	MCCC1	OMIM:210200
HP:0002157	Azotemia	64087	MCCC2	OMIM:210210
HP:0003297	Hyperlysinuria	9056	SLC7A7	OMIM:222700
HP:0003297	Hyperlysinuria	9056	SLC7A7	ORPHA:470
HP:0003297	Hyperlysinuria	11136	SLC7A9	OMIM:220100
HP:0003297	Hyperlysinuria	6519	SLC3A1	OMIM:220100
HP:0003297	Hyperlysinuria	133686	NADK2	OMIM:616034
HP:0003297	Hyperlysinuria	10157	AASS	ORPHA:2203
HP:0003297	Hyperlysinuria	10157	AASS	OMIM:238700
HP:0003297	Hyperlysinuria	10157	AASS	ORPHA:3124
HP:0002159	Heparan sulfate excretion in urine	65082	VPS33A	ORPHA:505248
HP:0002159	Heparan sulfate excretion in urine	6448	SGSH	OMIM:252900
HP:0002159	Heparan sulfate excretion in urine	55768	NGLY1	OMIM:615273
HP:0002159	Heparan sulfate excretion in urine	3423	IDS	OMIM:309900
HP:0002159	Heparan sulfate excretion in urine	3423	IDS	ORPHA:217085
HP:0002159	Heparan sulfate excretion in urine	3423	IDS	ORPHA:217093
HP:0002159	Heparan sulfate excretion in urine	2990	GUSB	OMIM:253220
HP:0002159	Heparan sulfate excretion in urine	138050	HGSNAT	OMIM:252930
HP:0002159	Heparan sulfate excretion in urine	3425	IDUA	OMIM:607014
HP:0002159	Heparan sulfate excretion in urine	3425	IDUA	OMIM:607015
HP:0002159	Heparan sulfate excretion in urine	4669	NAGLU	OMIM:252920
HP:0002159	Heparan sulfate excretion in urine	2799	GNS	OMIM:252940
HP:0009317	Deviation of the 3rd finger	3549	IHH	OMIM:112500
HP:0009317	Deviation of the 3rd finger	2263	FGFR2	OMIM:149730
HP:0009317	Deviation of the 3rd finger	51651	PTRH2	OMIM:616263
HP:0009317	Deviation of the 3rd finger	51651	PTRH2	ORPHA:456312
HP:0009317	Deviation of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009317	Deviation of the 3rd finger	91461	PKDCC	OMIM:618821
HP:0009317	Deviation of the 3rd finger	388015	RTL1	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	8788	DLK1	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	55384	MEG3	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	5293	PIK3CD	ORPHA:221139
HP:0009317	Deviation of the 3rd finger	90417	KNSTRN	ORPHA:221139
HP:0009316	Abnormal 3rd finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0009316	Abnormal 3rd finger phalanx morphology	2778	GNAS	ORPHA:79445
HP:0009316	Abnormal 3rd finger phalanx morphology	8200	GDF5	OMIM:113100
HP:0009316	Abnormal 3rd finger phalanx morphology	50814	NSDHL	OMIM:308050
HP:0009316	Abnormal 3rd finger phalanx morphology	7291	TWIST1	OMIM:101400
HP:0009316	Abnormal 3rd finger phalanx morphology	2263	FGFR2	OMIM:101400
HP:0009316	Abnormal 3rd finger phalanx morphology	22856	CHSY1	ORPHA:363417
HP:0009319	Joint contracture of the 3rd finger	1836	SLC26A2	ORPHA:93307
HP:0009319	Joint contracture of the 3rd finger	81857	MED25	ORPHA:464738
HP:0009319	Joint contracture of the 3rd finger	8243	SMC1A	OMIM:301044
HP:0009319	Joint contracture of the 3rd finger	1277	COL1A1	OMIM:130060
HP:0009319	Joint contracture of the 3rd finger	6909	TBX2	OMIM:618223
HP:0009319	Joint contracture of the 3rd finger	23327	NEDD4L	OMIM:617201
HP:0009319	Joint contracture of the 3rd finger	8985	PLOD3	OMIM:612394
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	2019	EN1	OMIM:619218
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	6926	TBX3	OMIM:181450
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	8200	GDF5	OMIM:113100
HP:0012372	Abnormal eye morphology	7021	TFAP2B	OMIM:169100
HP:0012372	Abnormal eye morphology	7021	TFAP2B	ORPHA:46627
HP:0012372	Abnormal eye morphology	2737	GLI3	ORPHA:380
HP:0012372	Abnormal eye morphology	2737	GLI3	ORPHA:36
HP:0012372	Abnormal eye morphology	2737	GLI3	ORPHA:672
HP:0012372	Abnormal eye morphology	2737	GLI3	OMIM:175700
HP:0012372	Abnormal eye morphology	2132	EXT2	ORPHA:466926
HP:0012372	Abnormal eye morphology	2132	EXT2	OMIM:616682
HP:0012372	Abnormal eye morphology	57082	KNL1	OMIM:604321
HP:0012372	Abnormal eye morphology	10606	PAICS	OMIM:619859
HP:0012372	Abnormal eye morphology	1500	CTNND1	OMIM:617681
HP:0012372	Abnormal eye morphology	1500	CTNND1	ORPHA:1997
HP:0012372	Abnormal eye morphology	4330	MN1	OMIM:618774
HP:0012372	Abnormal eye morphology	6602	SMARCD1	OMIM:618779
HP:0012372	Abnormal eye morphology	23512	SUZ12	OMIM:618786
HP:0012372	Abnormal eye morphology	23512	SUZ12	ORPHA:3447
HP:0012372	Abnormal eye morphology	57680	CHD8	OMIM:615032
HP:0012372	Abnormal eye morphology	8558	CDK10	OMIM:617694
HP:0012372	Abnormal eye morphology	8516	ITGA8	ORPHA:1848
HP:0012372	Abnormal eye morphology	8516	ITGA8	OMIM:191830
HP:0012372	Abnormal eye morphology	26281	FGF20	ORPHA:1848
HP:0012372	Abnormal eye morphology	2674	GFRA1	ORPHA:1848
HP:0012372	Abnormal eye morphology	7484	WNT9B	ORPHA:1848
HP:0012372	Abnormal eye morphology	80000	GREB1L	ORPHA:1848
HP:0012372	Abnormal eye morphology	54828	BCAS3	OMIM:619641
HP:0012372	Abnormal eye morphology	79633	FAT4	ORPHA:314679
HP:0012372	Abnormal eye morphology	79633	FAT4	ORPHA:2136
HP:0012372	Abnormal eye morphology	79633	FAT4	OMIM:616006
HP:0012372	Abnormal eye morphology	79633	FAT4	OMIM:615546
HP:0012372	Abnormal eye morphology	8642	DCHS1	ORPHA:314679
HP:0012372	Abnormal eye morphology	8642	DCHS1	OMIM:601390
HP:0012372	Abnormal eye morphology	2239	GPC4	ORPHA:373
HP:0012372	Abnormal eye morphology	2239	GPC4	OMIM:301026
HP:0012372	Abnormal eye morphology	2239	GPC4	OMIM:312870
HP:0012372	Abnormal eye morphology	2239	GPC4	ORPHA:2662
HP:0012372	Abnormal eye morphology	64919	BCL11B	OMIM:617237
HP:0012372	Abnormal eye morphology	64919	BCL11B	OMIM:618092
HP:0012372	Abnormal eye morphology	56160	NSMCE3	OMIM:617241
HP:0012372	Abnormal eye morphology	60529	ALX4	ORPHA:228390
HP:0012372	Abnormal eye morphology	60529	ALX4	OMIM:609597
HP:0012372	Abnormal eye morphology	60529	ALX4	OMIM:613451
HP:0012372	Abnormal eye morphology	8473	OGT	OMIM:300997
HP:0012372	Abnormal eye morphology	6418	SET	OMIM:618106
HP:0012372	Abnormal eye morphology	4703	NEB	OMIM:256030
HP:0012372	Abnormal eye morphology	4703	NEB	ORPHA:171433
HP:0012372	Abnormal eye morphology	4703	NEB	ORPHA:171439
HP:0012372	Abnormal eye morphology	7372	UMPS	ORPHA:30
HP:0012372	Abnormal eye morphology	23114	NFASC	OMIM:618356
HP:0012372	Abnormal eye morphology	3039	HBA1	ORPHA:98791
HP:0012372	Abnormal eye morphology	3040	HBA2	ORPHA:98791
HP:0012372	Abnormal eye morphology	51434	ANAPC7	OMIM:619699
HP:0012372	Abnormal eye morphology	551	AVP	OMIM:125700
HP:0012372	Abnormal eye morphology	23111	SPART	ORPHA:101000
HP:0012372	Abnormal eye morphology	23111	SPART	OMIM:275900
HP:0012372	Abnormal eye morphology	63931	MRPS14	OMIM:618378
HP:0012372	Abnormal eye morphology	4927	NUP88	ORPHA:994
HP:0012372	Abnormal eye morphology	5913	RAPSN	ORPHA:994
HP:0012372	Abnormal eye morphology	5913	RAPSN	OMIM:618388
HP:0012372	Abnormal eye morphology	6572	SLC18A3	ORPHA:994
HP:0012372	Abnormal eye morphology	285489	DOK7	ORPHA:994
HP:0012372	Abnormal eye morphology	8812	CCNK	OMIM:618147
HP:0012372	Abnormal eye morphology	348180	CTU2	OMIM:618142
HP:0012372	Abnormal eye morphology	11198	SUPT16H	OMIM:619480
HP:0012372	Abnormal eye morphology	1457	CSNK2A1	OMIM:617062
HP:0012372	Abnormal eye morphology	7204	TRIO	OMIM:617061
HP:0012372	Abnormal eye morphology	7204	TRIO	OMIM:618825
HP:0012372	Abnormal eye morphology	9508	ADAMTS3	OMIM:618154
HP:0012372	Abnormal eye morphology	9508	ADAMTS3	ORPHA:2136
HP:0012372	Abnormal eye morphology	1654	DDX3X	OMIM:300958
HP:0012372	Abnormal eye morphology	23387	SIK3	OMIM:618162
HP:0012372	Abnormal eye morphology	10020	GNE	ORPHA:3166
HP:0012372	Abnormal eye morphology	10020	GNE	OMIM:269921
HP:0012372	Abnormal eye morphology	84081	NSRP1	OMIM:620001
HP:0012372	Abnormal eye morphology	84842	HPDL	OMIM:619026
HP:0012372	Abnormal eye morphology	168667	BMPER	OMIM:608022
HP:0012372	Abnormal eye morphology	894	CCND2	ORPHA:83473
HP:0012372	Abnormal eye morphology	51506	UFC1	OMIM:618076
HP:0012372	Abnormal eye morphology	55780	ERMARD	ORPHA:75857
HP:0012372	Abnormal eye morphology	1185	CLCN6	OMIM:619173
HP:0012372	Abnormal eye morphology	56992	KIF15	ORPHA:261323
HP:0012372	Abnormal eye morphology	4001	LMNB1	OMIM:619179
HP:0012372	Abnormal eye morphology	1272	CNTN1	OMIM:612540
HP:0012372	Abnormal eye morphology	1801	DPH1	OMIM:616901
HP:0012372	Abnormal eye morphology	1801	DPH1	ORPHA:459061
HP:0012372	Abnormal eye morphology	6999	TDO2	OMIM:600627
HP:0012372	Abnormal eye morphology	23036	ZNF292	OMIM:619188
HP:0012372	Abnormal eye morphology	55148	UBR7	OMIM:619189
HP:0012372	Abnormal eye morphology	3070	HELLS	OMIM:616911
HP:0012372	Abnormal eye morphology	3070	HELLS	ORPHA:2268
HP:0012372	Abnormal eye morphology	83879	CDCA7	OMIM:616910
HP:0012372	Abnormal eye morphology	83879	CDCA7	ORPHA:2268
HP:0012372	Abnormal eye morphology	57217	TTC7A	OMIM:243150
HP:0012372	Abnormal eye morphology	56006	SMG9	OMIM:616920
HP:0012372	Abnormal eye morphology	64327	LMBR1	ORPHA:2378
HP:0012372	Abnormal eye morphology	147372	CCBE1	ORPHA:2136
HP:0012372	Abnormal eye morphology	147372	CCBE1	OMIM:235510
HP:0012372	Abnormal eye morphology	3675	ITGA3	OMIM:614748
HP:0012372	Abnormal eye morphology	10907	TXNL4A	OMIM:608572
HP:0012372	Abnormal eye morphology	10907	TXNL4A	ORPHA:1200
HP:0012372	Abnormal eye morphology	23522	KAT6B	ORPHA:85201
HP:0012372	Abnormal eye morphology	10472	ZBTB18	OMIM:612337
HP:0012372	Abnormal eye morphology	10472	ZBTB18	ORPHA:36367
HP:0012372	Abnormal eye morphology	2146	EZH2	OMIM:277590
HP:0012372	Abnormal eye morphology	2146	EZH2	ORPHA:3447
HP:0012372	Abnormal eye morphology	6509	SLC1A4	ORPHA:447997
HP:0012372	Abnormal eye morphology	56052	ALG1	OMIM:608540
HP:0012372	Abnormal eye morphology	132	ADK	OMIM:614300
HP:0012372	Abnormal eye morphology	2733	GLE1	ORPHA:1486
HP:0012372	Abnormal eye morphology	11133	KPTN	OMIM:615637
HP:0012372	Abnormal eye morphology	3097	HIVEP2	OMIM:616977
HP:0012372	Abnormal eye morphology	7547	ZIC3	OMIM:306955
HP:0012372	Abnormal eye morphology	63035	BCORL1	OMIM:301029
HP:0012372	Abnormal eye morphology	57211	ADGRG6	OMIM:616503
HP:0012372	Abnormal eye morphology	3759	KCNJ2	OMIM:170390
HP:0012372	Abnormal eye morphology	3759	KCNJ2	ORPHA:37553
HP:0012372	Abnormal eye morphology	860	RUNX2	ORPHA:1452
HP:0012372	Abnormal eye morphology	860	RUNX2	OMIM:119600
HP:0012372	Abnormal eye morphology	25885	POLR1A	ORPHA:1200
HP:0012372	Abnormal eye morphology	55617	TASP1	OMIM:618950
HP:0012372	Abnormal eye morphology	92335	STRADA	OMIM:611087
HP:0012372	Abnormal eye morphology	1748	DLX4	OMIM:616788
HP:0012372	Abnormal eye morphology	1146	CHRNG	ORPHA:2990
HP:0012372	Abnormal eye morphology	1146	CHRNG	OMIM:265000
HP:0012372	Abnormal eye morphology	1146	CHRNG	OMIM:253290
HP:0012372	Abnormal eye morphology	9851	KIAA0753	ORPHA:2754
HP:0012372	Abnormal eye morphology	9851	KIAA0753	OMIM:617127
HP:0012372	Abnormal eye morphology	317662	FAM149B1	ORPHA:2754
HP:0012372	Abnormal eye morphology	11141	IL1RAPL1	OMIM:300143
HP:0012372	Abnormal eye morphology	55553	SOX6	OMIM:618971
HP:0012372	Abnormal eye morphology	57647	DHX37	OMIM:618731
HP:0012372	Abnormal eye morphology	10736	SIX2	ORPHA:488437
HP:0012372	Abnormal eye morphology	79875	THSD4	OMIM:619825
HP:0012372	Abnormal eye morphology	4281	MID1	ORPHA:2745
HP:0012372	Abnormal eye morphology	4281	MID1	OMIM:300000
HP:0012372	Abnormal eye morphology	3762	KCNJ5	ORPHA:37553
HP:0012372	Abnormal eye morphology	11253	MAN1B1	ORPHA:397941
HP:0012372	Abnormal eye morphology	11253	MAN1B1	OMIM:614202
HP:0012372	Abnormal eye morphology	8294	H4C9	OMIM:619951
HP:0012372	Abnormal eye morphology	50651	SLC45A1	OMIM:617532
HP:0012372	Abnormal eye morphology	9853	RUSC2	OMIM:617773
HP:0012372	Abnormal eye morphology	56172	ANKH	ORPHA:1522
HP:0012372	Abnormal eye morphology	56172	ANKH	OMIM:123000
HP:0012372	Abnormal eye morphology	8425	LTBP4	OMIM:613177
HP:0012372	Abnormal eye morphology	1947	EFNB1	ORPHA:1520
HP:0012372	Abnormal eye morphology	1947	EFNB1	OMIM:304110
HP:0012372	Abnormal eye morphology	999	CDH1	ORPHA:1997
HP:0012372	Abnormal eye morphology	999	CDH1	OMIM:119580
HP:0012372	Abnormal eye morphology	51319	RSRC1	OMIM:618402
HP:0012372	Abnormal eye morphology	283987	HID1	OMIM:619983
HP:0012372	Abnormal eye morphology	1501	CTNND2	ORPHA:281
HP:0012372	Abnormal eye morphology	9037	SEMA5A	ORPHA:281
HP:0012372	Abnormal eye morphology	55623	THUMPD1	OMIM:619989
HP:0012372	Abnormal eye morphology	1789	DNMT3B	OMIM:242860
HP:0012372	Abnormal eye morphology	1789	DNMT3B	ORPHA:2268
HP:0012372	Abnormal eye morphology	85301	COL27A1	OMIM:615155
HP:0012372	Abnormal eye morphology	11154	AP4S1	OMIM:614067
HP:0012372	Abnormal eye morphology	7862	BRPF1	OMIM:617333
HP:0012372	Abnormal eye morphology	8363	H4C11	OMIM:619759
HP:0012372	Abnormal eye morphology	5048	PAFAH1B1	ORPHA:217385
HP:0012372	Abnormal eye morphology	7531	YWHAE	ORPHA:217385
HP:0012372	Abnormal eye morphology	9841	ZBTB24	OMIM:614069
HP:0012372	Abnormal eye morphology	9841	ZBTB24	ORPHA:2268
HP:0012372	Abnormal eye morphology	8364	H4C3	OMIM:619758
HP:0012372	Abnormal eye morphology	4247	MGAT2	ORPHA:79329
HP:0012372	Abnormal eye morphology	7750	ZMYM2	OMIM:619522
HP:0012372	Abnormal eye morphology	2542	SLC37A4	OMIM:619525
HP:0012372	Abnormal eye morphology	2683	B4GALT1	ORPHA:79332
HP:0012372	Abnormal eye morphology	51651	PTRH2	OMIM:616263
HP:0012372	Abnormal eye morphology	51651	PTRH2	ORPHA:456312
HP:0012372	Abnormal eye morphology	6261	RYR1	ORPHA:324581
HP:0012372	Abnormal eye morphology	6261	RYR1	OMIM:619542
HP:0012372	Abnormal eye morphology	8621	CDK13	OMIM:617360
HP:0012372	Abnormal eye morphology	81848	SPRY4	ORPHA:432
HP:0012372	Abnormal eye morphology	60675	PROK2	ORPHA:432
HP:0012372	Abnormal eye morphology	6870	TACR3	ORPHA:432
HP:0012372	Abnormal eye morphology	1848	DUSP6	ORPHA:432
HP:0012372	Abnormal eye morphology	26012	NSMF	ORPHA:432
HP:0012372	Abnormal eye morphology	9394	HS6ST1	ORPHA:432
HP:0012372	Abnormal eye morphology	2796	GNRH1	ORPHA:432
HP:0012372	Abnormal eye morphology	2798	GNRHR	ORPHA:432
HP:0012372	Abnormal eye morphology	84634	KISS1R	ORPHA:432
HP:0012372	Abnormal eye morphology	6866	TAC3	ORPHA:432
HP:0012372	Abnormal eye morphology	8822	FGF17	ORPHA:432
HP:0012372	Abnormal eye morphology	3814	KISS1	ORPHA:432
HP:0012372	Abnormal eye morphology	6477	SIAH1	OMIM:619314
HP:0012372	Abnormal eye morphology	6323	SCN1A	OMIM:619317
HP:0012372	Abnormal eye morphology	650	BMP2	ORPHA:261295
HP:0012372	Abnormal eye morphology	2710	GK	OMIM:307030
HP:0012372	Abnormal eye morphology	83999	KREMEN1	OMIM:617392
HP:0012372	Abnormal eye morphology	50619	DEF6	OMIM:619573
HP:0012372	Abnormal eye morphology	29920	PYCR2	ORPHA:481152
HP:0012372	Abnormal eye morphology	9969	MED13	OMIM:618009
HP:0012372	Abnormal eye morphology	8604	SLC25A12	OMIM:612949
HP:0012372	Abnormal eye morphology	9496	TBX4	ORPHA:261279
HP:0012372	Abnormal eye morphology	9451	EIF2AK3	OMIM:226980
HP:0012372	Abnormal eye morphology	5277	PIGA	OMIM:300868
HP:0012372	Abnormal eye morphology	57187	THOC2	ORPHA:457240
HP:0012372	Abnormal eye morphology	9791	PTDSS1	OMIM:151050
HP:0012372	Abnormal eye morphology	9791	PTDSS1	ORPHA:2658
HP:0012372	Abnormal eye morphology	10771	ZMYND11	OMIM:616083
HP:0012372	Abnormal eye morphology	5977	DPF2	OMIM:618027
HP:0012372	Abnormal eye morphology	79005	SCNM1	OMIM:620107
HP:0012372	Abnormal eye morphology	23405	DICER1	OMIM:618272
HP:0012372	Abnormal eye morphology	2571	GAD1	OMIM:619124
HP:0012372	Abnormal eye morphology	118924	FRA10AC1	OMIM:620113
HP:0012372	Abnormal eye morphology	57020	VPS35L	OMIM:619135
HP:0012372	Abnormal eye morphology	23154	NCDN	OMIM:619373
HP:0012372	Abnormal eye morphology	55835	CENPJ	OMIM:608393
HP:0012372	Abnormal eye morphology	3295	HSD17B4	OMIM:261515
HP:0012372	Abnormal eye morphology	11011	TLK2	OMIM:618050
HP:0012372	Abnormal eye morphology	5567	PRKACB	OMIM:619143
HP:0012372	Abnormal eye morphology	221692	PHACTR1	OMIM:618298
HP:0012372	Abnormal eye morphology	6499	SKIC2	ORPHA:84064
HP:0012372	Abnormal eye morphology	6499	SKIC2	OMIM:614602
HP:0012372	Abnormal eye morphology	11113	CIT	OMIM:617090
HP:0012372	Abnormal eye morphology	10128	LRPPRC	OMIM:220111
HP:0012372	Abnormal eye morphology	95	ACY1	ORPHA:137754
HP:0012372	Abnormal eye morphology	95	ACY1	OMIM:609924
HP:0012372	Abnormal eye morphology	58	ACTA1	ORPHA:171433
HP:0012372	Abnormal eye morphology	58	ACTA1	ORPHA:171439
HP:0012372	Abnormal eye morphology	10324	KLHL41	ORPHA:171433
HP:0012372	Abnormal eye morphology	10324	KLHL41	ORPHA:171439
HP:0012372	Abnormal eye morphology	7170	TPM3	ORPHA:171433
HP:0012372	Abnormal eye morphology	7170	TPM3	ORPHA:171439
HP:0012372	Abnormal eye morphology	6595	SMARCA2	OMIM:619293
HP:0012372	Abnormal eye morphology	3899	AFF3	OMIM:619297
HP:0012372	Abnormal eye morphology	657	BMPR1A	ORPHA:79076
HP:0012372	Abnormal eye morphology	5826	ABCD4	OMIM:614857
HP:0012372	Abnormal eye morphology	55027	HEATR3	OMIM:620072
HP:0012372	Abnormal eye morphology	10430	TMEM147	OMIM:620075
HP:0012372	Abnormal eye morphology	84665	MYPN	ORPHA:171439
HP:0012372	Abnormal eye morphology	7169	TPM2	ORPHA:171439
HP:0012372	Abnormal eye morphology	390594	KBTBD13	ORPHA:171439
HP:0012372	Abnormal eye morphology	57222	ERGIC1	ORPHA:1143
HP:0012372	Abnormal eye morphology	27152	INTU	OMIM:617925
HP:0012372	Abnormal eye morphology	1144	CHRND	OMIM:253290
HP:0012372	Abnormal eye morphology	1134	CHRNA1	OMIM:253290
HP:0012372	Abnormal eye morphology	579	NKX3-2	OMIM:613330
HP:0012372	Abnormal eye morphology	51621	KLF13	OMIM:612001
HP:0012372	Abnormal eye morphology	1139	CHRNA7	OMIM:612001
HP:0012372	Abnormal eye morphology	113179	ADAT3	ORPHA:363528
HP:0012372	Abnormal eye morphology	55784	MCTP2	ORPHA:1596
HP:0012372	Abnormal eye morphology	10265	IRX5	OMIM:611174
HP:0012372	Abnormal eye morphology	9325	TRIP4	OMIM:616866
HP:0012372	Abnormal eye morphology	7067	THRA	OMIM:614450
HP:0012372	Abnormal eye morphology	59336	PRDM13	OMIM:619909
HP:0012372	Abnormal eye morphology	54796	BNC2	ORPHA:93110
HP:0012372	Abnormal eye morphology	26047	CNTNAP2	ORPHA:163681
HP:0012372	Abnormal eye morphology	54870	QRICH1	OMIM:617982
HP:0012372	Abnormal eye morphology	202018	TAPT1	OMIM:616897
HP:0012372	Abnormal eye morphology	4841	NONO	ORPHA:466791
HP:0012372	Abnormal eye morphology	9320	TRIP12	OMIM:617752
HP:0012372	Abnormal eye morphology	738	VPS51	OMIM:618606
HP:0012372	Abnormal eye morphology	5430	POLR2A	OMIM:618603
HP:0012372	Abnormal eye morphology	5307	PITX1	OMIM:119800
HP:0012372	Abnormal eye morphology	92935	MARS2	OMIM:616430
HP:0012372	Abnormal eye morphology	85300	ATCAY	OMIM:601238
HP:0012372	Abnormal eye morphology	85300	ATCAY	ORPHA:94122
HP:0012372	Abnormal eye morphology	611	OPN1SW	ORPHA:88629
HP:0012372	Abnormal eye morphology	5649	RELN	ORPHA:89844
HP:0012372	Abnormal eye morphology	10300	KATNB1	ORPHA:89844
HP:0012372	Abnormal eye morphology	4123	MAN2C1	OMIM:619775
HP:0012372	Abnormal eye morphology	3909	LAMA3	ORPHA:79404
HP:0012372	Abnormal eye morphology	3918	LAMC2	ORPHA:79404
HP:0012372	Abnormal eye morphology	3914	LAMB3	ORPHA:79404
HP:0012372	Abnormal eye morphology	1290	COL5A2	ORPHA:287
HP:0012372	Abnormal eye morphology	1954	MEGF8	ORPHA:65759
HP:0012372	Abnormal eye morphology	5351	PLOD1	OMIM:225400
HP:0012372	Abnormal eye morphology	5351	PLOD1	ORPHA:1900
HP:0012372	Abnormal eye morphology	7403	KDM6A	ORPHA:2322
HP:0012372	Abnormal eye morphology	2314	FLII	ORPHA:819
HP:0012372	Abnormal eye morphology	23096	IQSEC2	ORPHA:819
HP:0012372	Abnormal eye morphology	10743	RAI1	ORPHA:819
HP:0012372	Abnormal eye morphology	10522	DEAF1	ORPHA:819
HP:0012372	Abnormal eye morphology	10982	MAPRE2	OMIM:616734
HP:0012372	Abnormal eye morphology	10982	MAPRE2	ORPHA:2505
HP:0012372	Abnormal eye morphology	79718	TBL1XR1	ORPHA:487825
HP:0012372	Abnormal eye morphology	79718	TBL1XR1	OMIM:602342
HP:0012372	Abnormal eye morphology	668	FOXL2	OMIM:110100
HP:0012372	Abnormal eye morphology	10664	CTCF	ORPHA:363611
HP:0012372	Abnormal eye morphology	92344	GORAB	ORPHA:2078
HP:0012372	Abnormal eye morphology	6913	TBX15	OMIM:260660
HP:0012372	Abnormal eye morphology	7528	YY1	ORPHA:506358
HP:0012372	Abnormal eye morphology	8036	SHOC2	OMIM:607721
HP:0012372	Abnormal eye morphology	5087	PBX1	ORPHA:97362
HP:0012372	Abnormal eye morphology	9759	HDAC4	OMIM:619797
HP:0012372	Abnormal eye morphology	30000	TNPO2	OMIM:619556
HP:0012372	Abnormal eye morphology	23241	PACS2	OMIM:618067
HP:0012372	Abnormal eye morphology	10765	KDM5B	OMIM:618109
HP:0012372	Abnormal eye morphology	64116	SLC39A8	OMIM:616721
HP:0012372	Abnormal eye morphology	64116	SLC39A8	ORPHA:468699
HP:0012372	Abnormal eye morphology	3008	H1-4	OMIM:617537
HP:0012372	Abnormal eye morphology	118987	PDZD8	OMIM:620021
HP:0012372	Abnormal eye morphology	84570	COL25A1	ORPHA:91411
HP:0012372	Abnormal eye morphology	79776	ZFHX4	ORPHA:91411
HP:0012372	Abnormal eye morphology	55209	SETD5	OMIM:615761
HP:0012372	Abnormal eye morphology	6812	STXBP1	ORPHA:495818
HP:0012372	Abnormal eye morphology	10686	CLDN16	OMIM:248250
HP:0012372	Abnormal eye morphology	5010	CLDN11	OMIM:619328
HP:0012372	Abnormal eye morphology	55777	MBD5	OMIM:156200
HP:0012372	Abnormal eye morphology	2590	GALNT2	OMIM:618885
HP:0012372	Abnormal eye morphology	55870	ASH1L	OMIM:617796
HP:0012372	Abnormal eye morphology	54496	PRMT7	OMIM:617157
HP:0012372	Abnormal eye morphology	113189	CHST14	ORPHA:2953
HP:0012372	Abnormal eye morphology	113189	CHST14	OMIM:601776
HP:0012372	Abnormal eye morphology	29940	DSE	ORPHA:2953
HP:0012372	Abnormal eye morphology	5119	CHMP1A	OMIM:614961
HP:0012372	Abnormal eye morphology	816	CAMK2B	OMIM:617799
HP:0012372	Abnormal eye morphology	1108	CHD4	OMIM:617159
HP:0012372	Abnormal eye morphology	708	C1QBP	OMIM:617713
HP:0012372	Abnormal eye morphology	9241	NOG	OMIM:186500
HP:0012372	Abnormal eye morphology	222663	SCUBE3	OMIM:619184
HP:0012372	Abnormal eye morphology	6045	RNF2	OMIM:619460
HP:0012372	Abnormal eye morphology	9757	KMT2B	OMIM:617284
HP:0012372	Abnormal eye morphology	9757	KMT2B	OMIM:619934
HP:0012372	Abnormal eye morphology	4761	NEUROD2	OMIM:618374
HP:0012372	Abnormal eye morphology	57178	ZMIZ1	OMIM:618659
HP:0012372	Abnormal eye morphology	2743	GLRB	OMIM:614619
HP:0012372	Abnormal eye morphology	253738	EBF3	OMIM:617330
HP:0012372	Abnormal eye morphology	57003	CCDC47	OMIM:618268
HP:0012372	Abnormal eye morphology	4659	PPP1R12A	OMIM:618820
HP:0012372	Abnormal eye morphology	9091	PIGQ	OMIM:618548
HP:0012372	Abnormal eye morphology	283446	MYO1H	OMIM:619482
HP:0012372	Abnormal eye morphology	2890	GRIA1	OMIM:619927
HP:0012372	Abnormal eye morphology	23261	CAMTA1	OMIM:614756
HP:0012372	Abnormal eye morphology	51341	ZBTB7A	OMIM:619769
HP:0012372	Abnormal eye morphology	51322	WAC	ORPHA:284169
HP:0012372	Abnormal eye morphology	51322	WAC	OMIM:616708
HP:0012372	Abnormal eye morphology	80267	EDEM3	OMIM:619493
HP:0012372	Abnormal eye morphology	5528	PPP2R5D	ORPHA:457279
HP:0012372	Abnormal eye morphology	1107	CHD3	OMIM:618205
HP:0012372	Abnormal eye morphology	6885	MAP3K7	ORPHA:1826
HP:0012372	Abnormal eye morphology	9181	ARHGEF2	OMIM:617523
HP:0012372	Abnormal eye morphology	55294	FBXW7	OMIM:620012
HP:0012372	Abnormal eye morphology	64221	ROBO3	OMIM:607313
HP:0012372	Abnormal eye morphology	3778	KCNMA1	OMIM:618729
HP:0012372	Abnormal eye morphology	2245	FGD1	ORPHA:915
HP:0012372	Abnormal eye morphology	3767	KCNJ11	ORPHA:552
HP:0012372	Abnormal eye morphology	3767	KCNJ11	ORPHA:99885
HP:0012372	Abnormal eye morphology	8462	KLF11	ORPHA:552
HP:0012372	Abnormal eye morphology	2645	GCK	ORPHA:552
HP:0012372	Abnormal eye morphology	2645	GCK	ORPHA:99885
HP:0012372	Abnormal eye morphology	26060	APPL1	ORPHA:552
HP:0012372	Abnormal eye morphology	640	BLK	ORPHA:552
HP:0012372	Abnormal eye morphology	1056	CEL	ORPHA:552
HP:0012372	Abnormal eye morphology	4760	NEUROD1	ORPHA:552
HP:0012372	Abnormal eye morphology	3651	PDX1	ORPHA:552
HP:0012372	Abnormal eye morphology	3651	PDX1	ORPHA:99885
HP:0012372	Abnormal eye morphology	6833	ABCC8	ORPHA:552
HP:0012372	Abnormal eye morphology	6833	ABCC8	ORPHA:99885
HP:0012372	Abnormal eye morphology	5078	PAX4	ORPHA:552
HP:0012372	Abnormal eye morphology	3172	HNF4A	ORPHA:552
HP:0012372	Abnormal eye morphology	6927	HNF1A	ORPHA:552
HP:0012372	Abnormal eye morphology	3630	INS	ORPHA:552
HP:0012372	Abnormal eye morphology	3630	INS	ORPHA:99885
HP:0012372	Abnormal eye morphology	5627	PROS1	ORPHA:743
HP:0012372	Abnormal eye morphology	3043	HBB	ORPHA:251380
HP:0012372	Abnormal eye morphology	3043	HBB	OMIM:603903
HP:0012372	Abnormal eye morphology	53335	BCL11A	ORPHA:251380
HP:0012372	Abnormal eye morphology	10661	KLF1	ORPHA:251380
HP:0012372	Abnormal eye morphology	3047	HBG1	ORPHA:251380
HP:0012372	Abnormal eye morphology	3048	HBG2	ORPHA:251380
HP:0012372	Abnormal eye morphology	1019	CDK4	ORPHA:618
HP:0012372	Abnormal eye morphology	4255	MGMT	ORPHA:618
HP:0012372	Abnormal eye morphology	54386	TERF2IP	ORPHA:618
HP:0012372	Abnormal eye morphology	65057	ACD	ORPHA:618
HP:0012372	Abnormal eye morphology	1029	CDKN2A	ORPHA:618
HP:0012372	Abnormal eye morphology	25913	POT1	ORPHA:618
HP:0012372	Abnormal eye morphology	1030	CDKN2B	ORPHA:618
HP:0012372	Abnormal eye morphology	51128	SAR1B	ORPHA:71
HP:0012372	Abnormal eye morphology	3593	IL12B	ORPHA:3287
HP:0012372	Abnormal eye morphology	6945	MLX	ORPHA:3287
HP:0012372	Abnormal eye morphology	641	BLM	ORPHA:125
HP:0012372	Abnormal eye morphology	375056	MIA3	OMIM:619269
HP:0012372	Abnormal eye morphology	9907	AP5Z1	ORPHA:306511
HP:0012372	Abnormal eye morphology	9907	AP5Z1	OMIM:613647
HP:0012372	Abnormal eye morphology	22954	TRIM32	OMIM:615988
HP:0012372	Abnormal eye morphology	2294	FOXF1	OMIM:265380
HP:0012372	Abnormal eye morphology	4621	MYH3	ORPHA:2053
HP:0012372	Abnormal eye morphology	4621	MYH3	OMIM:193700
HP:0012372	Abnormal eye morphology	8367	H4C5	OMIM:619950
HP:0012372	Abnormal eye morphology	10274	STAG1	ORPHA:502434
HP:0012372	Abnormal eye morphology	10274	STAG1	OMIM:617635
HP:0012372	Abnormal eye morphology	5457	POU4F1	ORPHA:314647
HP:0012372	Abnormal eye morphology	3020	H3-3A	OMIM:619720
HP:0012372	Abnormal eye morphology	613	BCR	ORPHA:261330
HP:0012372	Abnormal eye morphology	1399	CRKL	ORPHA:261330
HP:0012372	Abnormal eye morphology	27245	AHDC1	ORPHA:412069
HP:0012372	Abnormal eye morphology	55904	KMT2E	OMIM:618512
HP:0012372	Abnormal eye morphology	80055	PGAP1	OMIM:615802
HP:0012372	Abnormal eye morphology	10847	SRCAP	ORPHA:2044
HP:0012372	Abnormal eye morphology	10847	SRCAP	OMIM:136140
HP:0012372	Abnormal eye morphology	28960	DCPS	OMIM:616459
HP:0012372	Abnormal eye morphology	28958	COA3	OMIM:619058
HP:0012372	Abnormal eye morphology	2892	GRIA3	OMIM:300699
HP:0012372	Abnormal eye morphology	2892	GRIA3	ORPHA:364028
HP:0012372	Abnormal eye morphology	1351	COX8A	OMIM:619059
HP:0012372	Abnormal eye morphology	8913	CACNA1G	OMIM:618087
HP:0012372	Abnormal eye morphology	9739	SETD1A	OMIM:619056
HP:0012372	Abnormal eye morphology	80204	FBXO11	OMIM:618089
HP:0012372	Abnormal eye morphology	10015	PDCD6IP	OMIM:620047
HP:0012372	Abnormal eye morphology	9377	COX5A	OMIM:619064
HP:0012372	Abnormal eye morphology	57531	HACE1	ORPHA:464282
HP:0012372	Abnormal eye morphology	4212	MEIS2	OMIM:600987
HP:0012372	Abnormal eye morphology	4212	MEIS2	ORPHA:261190
HP:0012372	Abnormal eye morphology	26057	ANKRD17	OMIM:619504
HP:0012372	Abnormal eye morphology	4953	ODC1	OMIM:619075
HP:0012372	Abnormal eye morphology	4953	ODC1	ORPHA:544488
HP:0012372	Abnormal eye morphology	6792	CDKL5	OMIM:300672
HP:0012372	Abnormal eye morphology	6792	CDKL5	ORPHA:505652
HP:0012372	Abnormal eye morphology	5063	PAK3	OMIM:300558
HP:0012372	Abnormal eye morphology	4803	NGF	ORPHA:64752
HP:0012372	Abnormal eye morphology	79759	ZNF668	OMIM:620194
HP:0012372	Abnormal eye morphology	51611	DPH5	OMIM:620070
HP:0012372	Abnormal eye morphology	79228	THOC6	ORPHA:363444
HP:0012372	Abnormal eye morphology	79228	THOC6	OMIM:613680
HP:0012372	Abnormal eye morphology	7358	UGDH	OMIM:618792
HP:0012372	Abnormal eye morphology	6942	TCF20	OMIM:618430
HP:0012372	Abnormal eye morphology	5591	PRKDC	OMIM:615966
HP:0012372	Abnormal eye morphology	9772	TMEM94	OMIM:618316
HP:0012372	Abnormal eye morphology	6901	TAFAZZIN	OMIM:302060
HP:0012372	Abnormal eye morphology	8242	KDM5C	OMIM:300534
HP:0012372	Abnormal eye morphology	8242	KDM5C	ORPHA:85279
HP:0012372	Abnormal eye morphology	79989	IFT56	OMIM:619534
HP:0012372	Abnormal eye morphology	51574	LARP7	ORPHA:319671
HP:0012372	Abnormal eye morphology	51574	LARP7	OMIM:615071
HP:0012372	Abnormal eye morphology	79791	FBXO31	OMIM:615979
HP:0012372	Abnormal eye morphology	84876	ORAI1	ORPHA:3204
HP:0012372	Abnormal eye morphology	81603	TRIM8	OMIM:619428
HP:0012372	Abnormal eye morphology	3720	JARID2	OMIM:620098
HP:0012372	Abnormal eye morphology	55906	ZC4H2	OMIM:301041
HP:0012372	Abnormal eye morphology	27238	GPKOW	ORPHA:2570
HP:0012372	Abnormal eye morphology	54517	PUS7	OMIM:618342
HP:0012372	Abnormal eye morphology	85358	SHANK3	OMIM:606232
HP:0012372	Abnormal eye morphology	85358	SHANK3	ORPHA:48652
HP:0012372	Abnormal eye morphology	57520	HECW2	OMIM:617268
HP:0012372	Abnormal eye morphology	84679	SLC9A7	OMIM:301024
HP:0012372	Abnormal eye morphology	90161	HS6ST2	OMIM:301025
HP:0012372	Abnormal eye morphology	1725	DHPS	OMIM:618480
HP:0012372	Abnormal eye morphology	23221	RHOBTB2	OMIM:618004
HP:0012372	Abnormal eye morphology	6774	STAT3	ORPHA:2314
HP:0012372	Abnormal eye morphology	1000	CDH2	OMIM:618929
HP:0012372	Abnormal eye morphology	10943	MSL3	OMIM:301032
HP:0012372	Abnormal eye morphology	8091	HMGA2	ORPHA:94063
HP:0012372	Abnormal eye morphology	23592	LEMD3	ORPHA:94063
HP:0012372	Abnormal eye morphology	5718	PSMD12	ORPHA:529962
HP:0012372	Abnormal eye morphology	2186	BPTF	ORPHA:529962
HP:0012372	Abnormal eye morphology	80185	TTI2	OMIM:615541
HP:0012372	Abnormal eye morphology	80185	TTI2	ORPHA:391307
HP:0012372	Abnormal eye morphology	25	ABL1	OMIM:617602
HP:0012372	Abnormal eye morphology	5058	PAK1	OMIM:618158
HP:0012372	Abnormal eye morphology	57038	RARS2	OMIM:611523
HP:0012372	Abnormal eye morphology	2799	GNS	OMIM:252940
HP:0012372	Abnormal eye morphology	6748	SSR4	ORPHA:370927
HP:0012372	Abnormal eye morphology	6748	SSR4	OMIM:300934
HP:0012372	Abnormal eye morphology	2332	FMR1	ORPHA:261483
HP:0012372	Abnormal eye morphology	10479	SLC9A6	ORPHA:85278
HP:0012372	Abnormal eye morphology	55023	PHIP	OMIM:617991
HP:0012372	Abnormal eye morphology	2193	FARSA	OMIM:619013
HP:0012372	Abnormal eye morphology	1984	EIF5A	OMIM:619376
HP:0012372	Abnormal eye morphology	178	AGL	OMIM:232400
HP:0012372	Abnormal eye morphology	27161	AGO2	OMIM:619149
HP:0012372	Abnormal eye morphology	2902	GRIN1	OMIM:614254
HP:0012372	Abnormal eye morphology	2036	EPB41L1	OMIM:614257
HP:0012372	Abnormal eye morphology	4858	NOVA2	OMIM:618859
HP:0012372	Abnormal eye morphology	25886	POC1A	OMIM:614813
HP:0012372	Abnormal eye morphology	3480	IGF1R	OMIM:270450
HP:0012372	Abnormal eye morphology	55343	SLC35C1	ORPHA:99843
HP:0012372	Abnormal eye morphology	3572	IL6ST	OMIM:618523
HP:0012372	Abnormal eye morphology	9244	CRLF1	OMIM:272430
HP:0012372	Abnormal eye morphology	3850	KRT3	OMIM:618767
HP:0012372	Abnormal eye morphology	4126	MANBA	OMIM:248510
HP:0012372	Abnormal eye morphology	695	BTK	OMIM:300755
HP:0012372	Abnormal eye morphology	695	BTK	ORPHA:47
HP:0012372	Abnormal eye morphology	695	BTK	OMIM:307200
HP:0012372	Abnormal eye morphology	930	CD19	OMIM:613493
HP:0012372	Abnormal eye morphology	930	CD19	OMIM:240500
HP:0012372	Abnormal eye morphology	987	LRBA	OMIM:614700
HP:0012372	Abnormal eye morphology	7454	WAS	ORPHA:906
HP:0012372	Abnormal eye morphology	7456	WIPF1	ORPHA:906
HP:0012372	Abnormal eye morphology	3507	IGHM	OMIM:601495
HP:0012372	Abnormal eye morphology	3507	IGHM	ORPHA:33110
HP:0012372	Abnormal eye morphology	8676	STX11	OMIM:603552
HP:0012372	Abnormal eye morphology	5896	RAG1	OMIM:601457
HP:0012372	Abnormal eye morphology	5897	RAG2	OMIM:601457
HP:0012372	Abnormal eye morphology	162	AP1B1	OMIM:242150
HP:0012372	Abnormal eye morphology	5075	PAX1	OMIM:615560
HP:0012372	Abnormal eye morphology	974	CD79B	OMIM:612692
HP:0012372	Abnormal eye morphology	974	CD79B	ORPHA:33110
HP:0012372	Abnormal eye morphology	5429	POLH	OMIM:278750
HP:0012372	Abnormal eye morphology	5340	PLG	OMIM:217090
HP:0012372	Abnormal eye morphology	29851	ICOS	OMIM:607594
HP:0012372	Abnormal eye morphology	29851	ICOS	OMIM:240500
HP:0012372	Abnormal eye morphology	23495	TNFRSF13B	OMIM:240500
HP:0012372	Abnormal eye morphology	115650	TNFRSF13C	OMIM:240500
HP:0012372	Abnormal eye morphology	1380	CR2	OMIM:240500
HP:0012372	Abnormal eye morphology	5692	PSMB4	OMIM:617591
HP:0012372	Abnormal eye morphology	5698	PSMB9	OMIM:617591
HP:0012372	Abnormal eye morphology	7037	TFRC	OMIM:616740
HP:0012372	Abnormal eye morphology	54809	SAMD9	OMIM:610455
HP:0012372	Abnormal eye morphology	3321	IGSF3	OMIM:149700
HP:0012372	Abnormal eye morphology	6929	TCF3	ORPHA:33110
HP:0012372	Abnormal eye morphology	973	CD79A	ORPHA:33110
HP:0012372	Abnormal eye morphology	3543	IGLL1	ORPHA:33110
HP:0012372	Abnormal eye morphology	29760	BLNK	ORPHA:33110
HP:0012372	Abnormal eye morphology	56262	LRRC8A	ORPHA:33110
HP:0012372	Abnormal eye morphology	25970	SH2B1	ORPHA:261222
HP:0012372	Abnormal eye morphology	91452	ACBD5	OMIM:618863
HP:0012372	Abnormal eye morphology	23126	POGZ	ORPHA:468678
HP:0012372	Abnormal eye morphology	23126	POGZ	OMIM:616364
HP:0012372	Abnormal eye morphology	6311	ATXN2	OMIM:183090
HP:0012372	Abnormal eye morphology	10352	WARS2	ORPHA:572798
HP:0012372	Abnormal eye morphology	10352	WARS2	OMIM:617710
HP:0012372	Abnormal eye morphology	55012	PPP2R3C	OMIM:618419
HP:0012372	Abnormal eye morphology	491	ATP2B2	OMIM:601386
HP:0012372	Abnormal eye morphology	6134	RPL10	ORPHA:459070
HP:0012372	Abnormal eye morphology	6134	RPL10	OMIM:300998
HP:0012372	Abnormal eye morphology	80025	PANK2	OMIM:607236
HP:0012372	Abnormal eye morphology	80025	PANK2	ORPHA:216866
HP:0012372	Abnormal eye morphology	7355	SLC35A2	OMIM:300896
HP:0012372	Abnormal eye morphology	2625	GATA3	ORPHA:2237
HP:0012372	Abnormal eye morphology	29929	ALG6	ORPHA:79320
HP:0012372	Abnormal eye morphology	25981	DNAH1	ORPHA:244
HP:0012372	Abnormal eye morphology	115948	ODAD3	ORPHA:244
HP:0012372	Abnormal eye morphology	54768	HYDIN	ORPHA:244
HP:0012372	Abnormal eye morphology	352909	DNAAF3	ORPHA:244
HP:0012372	Abnormal eye morphology	27148	STK36	ORPHA:244
HP:0012372	Abnormal eye morphology	51314	NME8	ORPHA:244
HP:0012372	Abnormal eye morphology	92749	DRC1	ORPHA:244
HP:0012372	Abnormal eye morphology	54970	TTC12	ORPHA:244
HP:0012372	Abnormal eye morphology	152110	NEK10	ORPHA:244
HP:0012372	Abnormal eye morphology	2302	FOXJ1	ORPHA:244
HP:0012372	Abnormal eye morphology	221421	RSPH9	ORPHA:244
HP:0012372	Abnormal eye morphology	85478	CCDC65	ORPHA:244
HP:0012372	Abnormal eye morphology	55036	CCDC40	ORPHA:244
HP:0012372	Abnormal eye morphology	51364	ZMYND10	ORPHA:244
HP:0012372	Abnormal eye morphology	64446	DNAI2	ORPHA:244
HP:0012372	Abnormal eye morphology	6674	SPAG1	ORPHA:244
HP:0012372	Abnormal eye morphology	83544	DNAL1	ORPHA:244
HP:0012372	Abnormal eye morphology	89765	RSPH1	ORPHA:244
HP:0012372	Abnormal eye morphology	83538	ODAD4	ORPHA:244
HP:0012372	Abnormal eye morphology	200373	CFAP221	ORPHA:244
HP:0012372	Abnormal eye morphology	374407	DNAJB13	ORPHA:244
HP:0012372	Abnormal eye morphology	55172	DNAAF2	ORPHA:244
HP:0012372	Abnormal eye morphology	161582	DNAAF4	ORPHA:244
HP:0012372	Abnormal eye morphology	2622	GAS8	ORPHA:244
HP:0012372	Abnormal eye morphology	23639	DNAAF11	ORPHA:244
HP:0012372	Abnormal eye morphology	27019	DNAI1	ORPHA:244
HP:0012372	Abnormal eye morphology	345895	RSPH4A	ORPHA:244
HP:0012372	Abnormal eye morphology	54919	DNAAF5	ORPHA:244
HP:0012372	Abnormal eye morphology	388389	CCDC103	ORPHA:244
HP:0012372	Abnormal eye morphology	93233	ODAD1	ORPHA:244
HP:0012372	Abnormal eye morphology	55130	ODAD2	ORPHA:244
HP:0012372	Abnormal eye morphology	1767	DNAH5	ORPHA:244
HP:0012372	Abnormal eye morphology	83861	RSPH3	ORPHA:244
HP:0012372	Abnormal eye morphology	345643	MCIDAS	ORPHA:244
HP:0012372	Abnormal eye morphology	56683	CFAP298	ORPHA:244
HP:0012372	Abnormal eye morphology	79925	SPEF2	ORPHA:244
HP:0012372	Abnormal eye morphology	10309	CCNO	ORPHA:244
HP:0012372	Abnormal eye morphology	115399	LRRC56	ORPHA:244
HP:0012372	Abnormal eye morphology	139212	DNAAF6	ORPHA:244
HP:0012372	Abnormal eye morphology	123872	DNAAF1	ORPHA:244
HP:0012372	Abnormal eye morphology	85016	CFAP300	ORPHA:244
HP:0012372	Abnormal eye morphology	339829	CCDC39	ORPHA:244
HP:0012372	Abnormal eye morphology	8701	DNAH11	ORPHA:244
HP:0012372	Abnormal eye morphology	1770	DNAH9	ORPHA:244
HP:0012372	Abnormal eye morphology	246176	GAS2L2	ORPHA:244
HP:0012372	Abnormal eye morphology	3329	HSPD1	ORPHA:100994
HP:0012372	Abnormal eye morphology	3798	KIF5A	ORPHA:100991
HP:0012372	Abnormal eye morphology	55212	BBS7	OMIM:615984
HP:0012372	Abnormal eye morphology	585	BBS4	OMIM:615982
HP:0012372	Abnormal eye morphology	166379	BBS12	OMIM:615989
HP:0012372	Abnormal eye morphology	79738	BBS10	OMIM:615987
HP:0012372	Abnormal eye morphology	11020	IFT27	OMIM:615996
HP:0012372	Abnormal eye morphology	443	ASPA	ORPHA:314918
HP:0012372	Abnormal eye morphology	4704	NDUFA9	OMIM:618247
HP:0012372	Abnormal eye morphology	8120	AP3B2	OMIM:617276
HP:0012372	Abnormal eye morphology	8195	MKKS	OMIM:605231
HP:0012372	Abnormal eye morphology	3028	HSD17B10	ORPHA:391428
HP:0012372	Abnormal eye morphology	51	ACOX1	OMIM:264470
HP:0012372	Abnormal eye morphology	253827	MSRB3	OMIM:613718
HP:0012372	Abnormal eye morphology	26235	FBXL4	OMIM:615471
HP:0012372	Abnormal eye morphology	29925	GMPPB	OMIM:615350
HP:0012372	Abnormal eye morphology	29925	GMPPB	OMIM:615351
HP:0012372	Abnormal eye morphology	29925	GMPPB	OMIM:615352
HP:0012372	Abnormal eye morphology	29925	GMPPB	ORPHA:588
HP:0012372	Abnormal eye morphology	29925	GMPPB	ORPHA:370959
HP:0012372	Abnormal eye morphology	29925	GMPPB	ORPHA:363623
HP:0012372	Abnormal eye morphology	2972	BRF1	OMIM:616202
HP:0012372	Abnormal eye morphology	2972	BRF1	ORPHA:444072
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	OMIM:615356
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	ORPHA:369840
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	ORPHA:369847
HP:0012372	Abnormal eye morphology	4897	NRCAM	OMIM:619833
HP:0012372	Abnormal eye morphology	81857	MED25	OMIM:616449
HP:0012372	Abnormal eye morphology	1786	DNMT1	ORPHA:314404
HP:0012372	Abnormal eye morphology	1736	DKC1	OMIM:305000
HP:0012372	Abnormal eye morphology	1736	DKC1	ORPHA:1775
HP:0012372	Abnormal eye morphology	347733	TUBB2B	ORPHA:1766
HP:0012372	Abnormal eye morphology	7436	VLDLR	ORPHA:1766
HP:0012372	Abnormal eye morphology	7436	VLDLR	OMIM:224050
HP:0012372	Abnormal eye morphology	124997	WDR81	ORPHA:1766
HP:0012372	Abnormal eye morphology	51761	ATP8A2	ORPHA:1766
HP:0012372	Abnormal eye morphology	767	CA8	ORPHA:1766
HP:0012372	Abnormal eye morphology	114803	MYSM1	ORPHA:508542
HP:0012372	Abnormal eye morphology	7086	TKT	ORPHA:488618
HP:0012372	Abnormal eye morphology	112802	KRT71	ORPHA:170
HP:0012372	Abnormal eye morphology	121391	KRT74	ORPHA:170
HP:0012372	Abnormal eye morphology	200879	LIPH	ORPHA:170
HP:0012372	Abnormal eye morphology	10161	LPAR6	ORPHA:170
HP:0012372	Abnormal eye morphology	147183	KRT25	ORPHA:170
HP:0012372	Abnormal eye morphology	23250	ATP11A	OMIM:619851
HP:0012372	Abnormal eye morphology	130589	GALM	OMIM:618881
HP:0012372	Abnormal eye morphology	130589	GALM	ORPHA:570422
HP:0012372	Abnormal eye morphology	2671	GFER	OMIM:613076
HP:0012372	Abnormal eye morphology	79184	BRCC3	ORPHA:280679
HP:0012372	Abnormal eye morphology	7020	TFAP2A	OMIM:113620
HP:0012372	Abnormal eye morphology	7020	TFAP2A	ORPHA:1297
HP:0012372	Abnormal eye morphology	2512	FTL	ORPHA:163
HP:0012372	Abnormal eye morphology	2512	FTL	ORPHA:254704
HP:0012372	Abnormal eye morphology	857	CAV1	OMIM:606721
HP:0012372	Abnormal eye morphology	23347	SMCHD1	OMIM:603457
HP:0012372	Abnormal eye morphology	23347	SMCHD1	ORPHA:2250
HP:0012372	Abnormal eye morphology	8726	EED	OMIM:617561
HP:0012372	Abnormal eye morphology	54968	TMEM70	OMIM:614052
HP:0012372	Abnormal eye morphology	8550	MAPKAPK5	OMIM:619869
HP:0012372	Abnormal eye morphology	1201	CLN3	OMIM:204200
HP:0012372	Abnormal eye morphology	1201	CLN3	ORPHA:228346
HP:0012372	Abnormal eye morphology	23268	DNMBP	OMIM:618415
HP:0012372	Abnormal eye morphology	10716	TBR1	ORPHA:1617
HP:0012372	Abnormal eye morphology	3981	LIG4	ORPHA:235
HP:0012372	Abnormal eye morphology	54888	NSUN2	ORPHA:235
HP:0012372	Abnormal eye morphology	2936	GSR	OMIM:618660
HP:0012372	Abnormal eye morphology	27125	AFF4	OMIM:616368
HP:0012372	Abnormal eye morphology	27125	AFF4	ORPHA:444077
HP:0012372	Abnormal eye morphology	2592	GALT	OMIM:230400
HP:0012372	Abnormal eye morphology	2592	GALT	ORPHA:79239
HP:0012372	Abnormal eye morphology	116115	ZNF526	OMIM:619877
HP:0012372	Abnormal eye morphology	229	ALDOB	ORPHA:469
HP:0012372	Abnormal eye morphology	85365	ALG2	ORPHA:79326
HP:0012372	Abnormal eye morphology	85365	ALG2	OMIM:607906
HP:0012372	Abnormal eye morphology	5605	MAP2K2	OMIM:615280
HP:0012372	Abnormal eye morphology	253959	RALGAPA1	OMIM:618797
HP:0012372	Abnormal eye morphology	2232	FDXR	ORPHA:543470
HP:0012372	Abnormal eye morphology	4285	MIPEP	OMIM:617228
HP:0012372	Abnormal eye morphology	9562	MINPP1	OMIM:619527
HP:0012372	Abnormal eye morphology	8643	PTCH2	ORPHA:377
HP:0012372	Abnormal eye morphology	55739	NAXD	OMIM:618321
HP:0012372	Abnormal eye morphology	5741	PTH	OMIM:146200
HP:0012372	Abnormal eye morphology	4052	LTBP1	ORPHA:90349
HP:0012372	Abnormal eye morphology	30008	EFEMP2	ORPHA:90349
HP:0012372	Abnormal eye morphology	10195	ALG3	ORPHA:79321
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:79443
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:79444
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:94089
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:612463
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:612462
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:103580
HP:0012372	Abnormal eye morphology	84295	PHF6	ORPHA:127
HP:0012372	Abnormal eye morphology	79053	ALG8	ORPHA:79325
HP:0012372	Abnormal eye morphology	257	ALX3	OMIM:136760
HP:0012372	Abnormal eye morphology	257	ALX3	ORPHA:391474
HP:0012372	Abnormal eye morphology	23676	SMPX	OMIM:301075
HP:0012372	Abnormal eye morphology	1387	CREBBP	OMIM:618332
HP:0012372	Abnormal eye morphology	1387	CREBBP	ORPHA:353281
HP:0012372	Abnormal eye morphology	1387	CREBBP	OMIM:180849
HP:0012372	Abnormal eye morphology	1387	CREBBP	ORPHA:353277
HP:0012372	Abnormal eye morphology	58497	PRUNE1	OMIM:617481
HP:0012372	Abnormal eye morphology	58497	PRUNE1	ORPHA:544469
HP:0012372	Abnormal eye morphology	3980	LIG3	OMIM:619780
HP:0012372	Abnormal eye morphology	26173	INTS1	OMIM:618571
HP:0012372	Abnormal eye morphology	29968	PSAT1	OMIM:616038
HP:0012372	Abnormal eye morphology	27429	HTRA2	OMIM:617248
HP:0012372	Abnormal eye morphology	389827	MYMK	OMIM:254940
HP:0012372	Abnormal eye morphology	9949	AMMECR1	OMIM:300990
HP:0012372	Abnormal eye morphology	11232	POLG2	ORPHA:254892
HP:0012372	Abnormal eye morphology	9361	LONP1	OMIM:600373
HP:0012372	Abnormal eye morphology	9361	LONP1	ORPHA:1458
HP:0012372	Abnormal eye morphology	3912	LAMB1	OMIM:615191
HP:0012372	Abnormal eye morphology	51422	PRKAG2	OMIM:261740
HP:0012372	Abnormal eye morphology	160418	TMTC3	OMIM:617255
HP:0012372	Abnormal eye morphology	79876	UBA5	OMIM:617133
HP:0012372	Abnormal eye morphology	1798	DPAGT1	OMIM:608093
HP:0012372	Abnormal eye morphology	8675	STX16	ORPHA:94089
HP:0012372	Abnormal eye morphology	54765	TRIM44	OMIM:617142
HP:0012372	Abnormal eye morphology	54765	TRIM44	ORPHA:250923
HP:0012372	Abnormal eye morphology	5053	PAH	OMIM:261600
HP:0012372	Abnormal eye morphology	5053	PAH	ORPHA:79254
HP:0012372	Abnormal eye morphology	2033	EP300	ORPHA:353284
HP:0012372	Abnormal eye morphology	2033	EP300	OMIM:180849
HP:0012372	Abnormal eye morphology	2250	FGF5	OMIM:190330
HP:0012372	Abnormal eye morphology	1760	DMPK	OMIM:160900
HP:0012372	Abnormal eye morphology	1760	DMPK	ORPHA:589821
HP:0012372	Abnormal eye morphology	147409	DSG4	ORPHA:573
HP:0012372	Abnormal eye morphology	3892	KRT86	ORPHA:573
HP:0012372	Abnormal eye morphology	3889	KRT83	ORPHA:573
HP:0012372	Abnormal eye morphology	3887	KRT81	ORPHA:573
HP:0012372	Abnormal eye morphology	10059	DNM1L	ORPHA:98673
HP:0012372	Abnormal eye morphology	4976	OPA1	ORPHA:98673
HP:0012372	Abnormal eye morphology	63925	ZNF335	OMIM:615095
HP:0012372	Abnormal eye morphology	92255	LMBRD2	OMIM:619694
HP:0012372	Abnormal eye morphology	3756	KCNH1	OMIM:135500
HP:0012372	Abnormal eye morphology	3756	KCNH1	ORPHA:3473
HP:0012372	Abnormal eye morphology	1009	CDH11	OMIM:211380
HP:0012372	Abnormal eye morphology	8260	NAA10	ORPHA:568
HP:0012372	Abnormal eye morphology	84314	TMEM107	ORPHA:564
HP:0012372	Abnormal eye morphology	26123	TCTN3	ORPHA:564
HP:0012372	Abnormal eye morphology	79867	TCTN2	ORPHA:564
HP:0012372	Abnormal eye morphology	80776	B9D2	ORPHA:564
HP:0012372	Abnormal eye morphology	79600	TCTN1	ORPHA:564
HP:0012372	Abnormal eye morphology	51259	TMEM216	ORPHA:564
HP:0012372	Abnormal eye morphology	57545	CC2D2A	ORPHA:564
HP:0012372	Abnormal eye morphology	57545	CC2D2A	OMIM:612285
HP:0012372	Abnormal eye morphology	79770	TXNDC15	ORPHA:564
HP:0012372	Abnormal eye morphology	27077	B9D1	ORPHA:564
HP:0012372	Abnormal eye morphology	23322	RPGRIP1L	ORPHA:564
HP:0012372	Abnormal eye morphology	65062	TMEM237	ORPHA:564
HP:0012372	Abnormal eye morphology	2583	B4GALNT1	ORPHA:101006
HP:0012372	Abnormal eye morphology	372	ARCN1	OMIM:617164
HP:0012372	Abnormal eye morphology	11342	RNF13	OMIM:618379
HP:0012372	Abnormal eye morphology	11342	RNF13	ORPHA:544503
HP:0012372	Abnormal eye morphology	64374	SIL1	ORPHA:559
HP:0012372	Abnormal eye morphology	51763	INPP5K	ORPHA:559
HP:0012372	Abnormal eye morphology	51763	INPP5K	OMIM:617404
HP:0012372	Abnormal eye morphology	4810	NHS	ORPHA:627
HP:0012372	Abnormal eye morphology	526	ATP6V1B2	ORPHA:79500
HP:0012372	Abnormal eye morphology	526	ATP6V1B2	ORPHA:3473
HP:0012372	Abnormal eye morphology	57465	TBC1D24	ORPHA:79500
HP:0012372	Abnormal eye morphology	57465	TBC1D24	OMIM:220500
HP:0012372	Abnormal eye morphology	1412	CRYBA2	OMIM:115900
HP:0012372	Abnormal eye morphology	8720	MBTPS1	OMIM:618392
HP:0012372	Abnormal eye morphology	25839	COG4	OMIM:618150
HP:0012372	Abnormal eye morphology	25839	COG4	ORPHA:85172
HP:0012372	Abnormal eye morphology	84172	POLR1B	ORPHA:861
HP:0012372	Abnormal eye morphology	9533	POLR1C	ORPHA:861
HP:0012372	Abnormal eye morphology	51082	POLR1D	ORPHA:861
HP:0012372	Abnormal eye morphology	8239	USP9X	OMIM:300968
HP:0012372	Abnormal eye morphology	8239	USP9X	ORPHA:480880
HP:0012372	Abnormal eye morphology	57477	SHROOM4	ORPHA:85288
HP:0012372	Abnormal eye morphology	57704	GBA2	ORPHA:320391
HP:0012372	Abnormal eye morphology	57704	GBA2	OMIM:614409
HP:0012372	Abnormal eye morphology	3516	RBPJ	ORPHA:974
HP:0012372	Abnormal eye morphology	4851	NOTCH1	ORPHA:974
HP:0012372	Abnormal eye morphology	57514	ARHGAP31	ORPHA:974
HP:0012372	Abnormal eye morphology	57572	DOCK6	ORPHA:974
HP:0012372	Abnormal eye morphology	285203	EOGT	ORPHA:974
HP:0012372	Abnormal eye morphology	54567	DLL4	ORPHA:974
HP:0012372	Abnormal eye morphology	627	BDNF	ORPHA:893
HP:0012372	Abnormal eye morphology	10084	PQBP1	OMIM:309500
HP:0012372	Abnormal eye morphology	1315	COPB1	OMIM:619255
HP:0012372	Abnormal eye morphology	5557	PRIM1	OMIM:620005
HP:0012372	Abnormal eye morphology	55181	SMG8	OMIM:619268
HP:0012372	Abnormal eye morphology	87178	PNPT1	OMIM:614932
HP:0012372	Abnormal eye morphology	9987	HNRNPDL	OMIM:609115
HP:0012372	Abnormal eye morphology	83700	JAM3	OMIM:613730
HP:0012372	Abnormal eye morphology	64324	NSD1	ORPHA:821
HP:0012372	Abnormal eye morphology	10297	APC2	ORPHA:821
HP:0012372	Abnormal eye morphology	57539	WDR35	ORPHA:93271
HP:0012372	Abnormal eye morphology	9442	MED27	OMIM:619286
HP:0012372	Abnormal eye morphology	23600	AMACR	ORPHA:79095
HP:0012372	Abnormal eye morphology	23600	AMACR	OMIM:614307
HP:0012372	Abnormal eye morphology	1717	DHCR7	ORPHA:818
HP:0012372	Abnormal eye morphology	1717	DHCR7	OMIM:270400
HP:0012372	Abnormal eye morphology	30061	SLC40A1	OMIM:606069
HP:0012372	Abnormal eye morphology	4038	LRP4	ORPHA:3258
HP:0012372	Abnormal eye morphology	1716	DGUOK	ORPHA:329314
HP:0012372	Abnormal eye morphology	55107	ANO1	OMIM:620045
HP:0012372	Abnormal eye morphology	672	BRCA1	ORPHA:84
HP:0012372	Abnormal eye morphology	10459	MAD2L2	ORPHA:84
HP:0012372	Abnormal eye morphology	7516	XRCC2	ORPHA:84
HP:0012372	Abnormal eye morphology	29089	UBE2T	ORPHA:84
HP:0012372	Abnormal eye morphology	675	BRCA2	ORPHA:84
HP:0012372	Abnormal eye morphology	55120	FANCL	ORPHA:84
HP:0012372	Abnormal eye morphology	2177	FANCD2	ORPHA:84
HP:0012372	Abnormal eye morphology	2175	FANCA	ORPHA:84
HP:0012372	Abnormal eye morphology	2176	FANCC	ORPHA:84
HP:0012372	Abnormal eye morphology	2178	FANCE	ORPHA:84
HP:0012372	Abnormal eye morphology	2188	FANCF	ORPHA:84
HP:0012372	Abnormal eye morphology	2189	FANCG	ORPHA:84
HP:0012372	Abnormal eye morphology	5888	RAD51	ORPHA:84
HP:0012372	Abnormal eye morphology	5889	RAD51C	ORPHA:84
HP:0012372	Abnormal eye morphology	55159	RFWD3	ORPHA:84
HP:0012372	Abnormal eye morphology	83990	BRIP1	ORPHA:84
HP:0012372	Abnormal eye morphology	57697	FANCM	ORPHA:84
HP:0012372	Abnormal eye morphology	79728	PALB2	ORPHA:84
HP:0012372	Abnormal eye morphology	84464	SLX4	ORPHA:84
HP:0012372	Abnormal eye morphology	55215	FANCI	ORPHA:84
HP:0012372	Abnormal eye morphology	7466	WFS1	OMIM:222300
HP:0012372	Abnormal eye morphology	26090	ABHD12	OMIM:612674
HP:0012372	Abnormal eye morphology	55636	CHD7	OMIM:214800
HP:0012372	Abnormal eye morphology	23424	TDRD7	OMIM:613887
HP:0012372	Abnormal eye morphology	3782	KCNN3	ORPHA:3473
HP:0012372	Abnormal eye morphology	4853	NOTCH2	ORPHA:955
HP:0012372	Abnormal eye morphology	374393	FAM111B	OMIM:615704
HP:0012372	Abnormal eye morphology	1174	AP1S1	OMIM:609313
HP:0012372	Abnormal eye morphology	26227	PHGDH	OMIM:256520
HP:0012372	Abnormal eye morphology	91754	NEK9	ORPHA:64754
HP:0012372	Abnormal eye morphology	55719	SLF2	OMIM:620184
HP:0012372	Abnormal eye morphology	81887	LAS1L	ORPHA:3459
HP:0012372	Abnormal eye morphology	55869	HDAC8	ORPHA:3459
HP:0012372	Abnormal eye morphology	55869	HDAC8	ORPHA:199
HP:0012372	Abnormal eye morphology	10165	SLC25A13	ORPHA:247598
HP:0012372	Abnormal eye morphology	3178	HNRNPA1	ORPHA:52430
HP:0012372	Abnormal eye morphology	7415	VCP	ORPHA:52430
HP:0012372	Abnormal eye morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012372	Abnormal eye morphology	55129	ANO10	ORPHA:284289
HP:0012372	Abnormal eye morphology	50628	GEMIN4	OMIM:617913
HP:0012372	Abnormal eye morphology	2702	GJA5	OMIM:612474
HP:0012372	Abnormal eye morphology	1288	COL4A6	ORPHA:1018
HP:0012372	Abnormal eye morphology	9158	FIBP	ORPHA:500095
HP:0012372	Abnormal eye morphology	9420	CYP7B1	ORPHA:100986
HP:0012372	Abnormal eye morphology	9420	CYP7B1	OMIM:270800
HP:0012372	Abnormal eye morphology	92482	BBIP1	OMIM:615995
HP:0012372	Abnormal eye morphology	2584	GALK1	OMIM:230200
HP:0012372	Abnormal eye morphology	2584	GALK1	ORPHA:79237
HP:0012372	Abnormal eye morphology	84162	BLTP1	OMIM:617822
HP:0012372	Abnormal eye morphology	3313	HSPA9	OMIM:616854
HP:0012372	Abnormal eye morphology	387700	SLC16A12	OMIM:612018
HP:0012372	Abnormal eye morphology	10651	MTX2	ORPHA:90153
HP:0012372	Abnormal eye morphology	8671	SLC4A4	OMIM:604278
HP:0012372	Abnormal eye morphology	7283	TUBG1	OMIM:615412
HP:0012372	Abnormal eye morphology	1063	CENPF	OMIM:243605
HP:0012372	Abnormal eye morphology	5745	PTH1R	ORPHA:50945
HP:0012372	Abnormal eye morphology	8985	PLOD3	OMIM:612394
HP:0012372	Abnormal eye morphology	175	AGA	OMIM:208400
HP:0012372	Abnormal eye morphology	139285	AMER1	ORPHA:2780
HP:0012372	Abnormal eye morphology	2313	FLI1	ORPHA:2308
HP:0012372	Abnormal eye morphology	23476	BRD4	ORPHA:199
HP:0012372	Abnormal eye morphology	9126	SMC3	ORPHA:199
HP:0012372	Abnormal eye morphology	25836	NIPBL	ORPHA:199
HP:0012372	Abnormal eye morphology	5885	RAD21	ORPHA:199
HP:0012372	Abnormal eye morphology	9150	CTDP1	ORPHA:48431
HP:0012372	Abnormal eye morphology	8092	ALX1	ORPHA:306542
HP:0012372	Abnormal eye morphology	3704	ITPA	OMIM:616647
HP:0012372	Abnormal eye morphology	28957	MRPS28	OMIM:618958
HP:0012372	Abnormal eye morphology	54676	GTPBP2	OMIM:617988
HP:0012372	Abnormal eye morphology	617	BCS1L	OMIM:124000
HP:0012372	Abnormal eye morphology	10558	SPTLC1	OMIM:162400
HP:0012372	Abnormal eye morphology	1376	CPT2	OMIM:608836
HP:0012372	Abnormal eye morphology	652	BMP4	ORPHA:139471
HP:0012372	Abnormal eye morphology	7518	XRCC4	OMIM:616541
HP:0012372	Abnormal eye morphology	9130	FAM50A	OMIM:300261
HP:0012372	Abnormal eye morphology	55651	NHP2	ORPHA:1775
HP:0012372	Abnormal eye morphology	79650	USB1	ORPHA:1775
HP:0012372	Abnormal eye morphology	55135	WRAP53	ORPHA:1775
HP:0012372	Abnormal eye morphology	51750	RTEL1	ORPHA:1775
HP:0012372	Abnormal eye morphology	4869	NPM1	ORPHA:1775
HP:0012372	Abnormal eye morphology	7012	TERC	ORPHA:1775
HP:0012372	Abnormal eye morphology	55505	NOP10	ORPHA:1775
HP:0012372	Abnormal eye morphology	5073	PARN	ORPHA:1775
HP:0012372	Abnormal eye morphology	7298	TYMS	ORPHA:1775
HP:0012372	Abnormal eye morphology	1417	CRYBB3	OMIM:609741
HP:0012372	Abnormal eye morphology	23094	SIPA1L3	OMIM:616851
HP:0012372	Abnormal eye morphology	3417	IDH1	ORPHA:99646
HP:0012372	Abnormal eye morphology	4513	MT-CO2	OMIM:540000
HP:0012372	Abnormal eye morphology	4511	MT-TC	OMIM:540000
HP:0012372	Abnormal eye morphology	4574	MT-TS1	OMIM:540000
HP:0012372	Abnormal eye morphology	4558	MT-TF	OMIM:540000
HP:0012372	Abnormal eye morphology	4572	MT-TQ	OMIM:540000
HP:0012372	Abnormal eye morphology	4577	MT-TV	OMIM:540000
HP:0012372	Abnormal eye morphology	4578	MT-TW	OMIM:540000
HP:0012372	Abnormal eye morphology	57589	RIC1	OMIM:618761
HP:0012372	Abnormal eye morphology	23511	NUP188	OMIM:618804
HP:0012372	Abnormal eye morphology	4047	LSS	OMIM:616509
HP:0012372	Abnormal eye morphology	20	ABCA2	OMIM:618808
HP:0012372	Abnormal eye morphology	22872	SEC31A	OMIM:618651
HP:0012372	Abnormal eye morphology	84668	HYCC1	OMIM:610532
HP:0012372	Abnormal eye morphology	84668	HYCC1	ORPHA:85163
HP:0012372	Abnormal eye morphology	5702	PSMC3	OMIM:619354
HP:0012372	Abnormal eye morphology	9894	TELO2	ORPHA:488642
HP:0012372	Abnormal eye morphology	84992	PIGY	OMIM:616809
HP:0012372	Abnormal eye morphology	79813	EHMT1	ORPHA:261652
HP:0012372	Abnormal eye morphology	58508	KMT2C	ORPHA:261652
HP:0012372	Abnormal eye morphology	953	ENTPD1	OMIM:615683
HP:0012372	Abnormal eye morphology	2651	GCNT2	OMIM:116700
HP:0012372	Abnormal eye morphology	3739	KCNA4	OMIM:618284
HP:0012372	Abnormal eye morphology	9197	SLC33A1	OMIM:614482
HP:0012372	Abnormal eye morphology	5286	PIK3C2A	OMIM:618440
HP:0012372	Abnormal eye morphology	5286	PIK3C2A	ORPHA:557003
HP:0012372	Abnormal eye morphology	7319	UBE2A	ORPHA:163956
HP:0012372	Abnormal eye morphology	6307	MSMO1	OMIM:616834
HP:0012372	Abnormal eye morphology	2108	ETFA	OMIM:231680
HP:0012372	Abnormal eye morphology	2109	ETFB	OMIM:231680
HP:0012372	Abnormal eye morphology	2110	ETFDH	OMIM:231680
HP:0012372	Abnormal eye morphology	2137	EXTL3	ORPHA:508533
HP:0012372	Abnormal eye morphology	4287	ATXN3	OMIM:109150
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276238
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276244
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276241
HP:0012372	Abnormal eye morphology	9871	SEC24D	ORPHA:2050
HP:0012372	Abnormal eye morphology	9871	SEC24D	OMIM:616294
HP:0012372	Abnormal eye morphology	5034	P4HB	ORPHA:2050
HP:0012372	Abnormal eye morphology	5034	P4HB	OMIM:112240
HP:0012372	Abnormal eye morphology	28981	IFT81	OMIM:617895
HP:0012372	Abnormal eye morphology	775	CACNA1C	OMIM:620029
HP:0012372	Abnormal eye morphology	7068	THRB	OMIM:274300
HP:0012372	Abnormal eye morphology	6662	SOX9	ORPHA:140
HP:0012372	Abnormal eye morphology	80816	ASXL3	OMIM:615485
HP:0012372	Abnormal eye morphology	1855	DVL1	OMIM:616331
HP:0012372	Abnormal eye morphology	1855	DVL1	ORPHA:3107
HP:0012372	Abnormal eye morphology	1855	DVL1	OMIM:180700
HP:0012372	Abnormal eye morphology	23384	SPECC1L	ORPHA:1519
HP:0012372	Abnormal eye morphology	64175	P3H1	OMIM:610915
HP:0012372	Abnormal eye morphology	64359	NXN	OMIM:618529
HP:0012372	Abnormal eye morphology	64359	NXN	ORPHA:1507
HP:0012372	Abnormal eye morphology	4920	ROR2	ORPHA:1507
HP:0012372	Abnormal eye morphology	4920	ROR2	OMIM:268310
HP:0012372	Abnormal eye morphology	57216	VANGL2	ORPHA:563612
HP:0012372	Abnormal eye morphology	1281	COL3A1	ORPHA:286
HP:0012372	Abnormal eye morphology	5424	POLD1	OMIM:615381
HP:0012372	Abnormal eye morphology	26053	AUTS2	ORPHA:352490
HP:0012372	Abnormal eye morphology	26053	AUTS2	OMIM:615834
HP:0012372	Abnormal eye morphology	23327	NEDD4L	OMIM:617201
HP:0012372	Abnormal eye morphology	11285	B4GALT7	OMIM:130070
HP:0012372	Abnormal eye morphology	5447	POR	OMIM:201750
HP:0012372	Abnormal eye morphology	5447	POR	OMIM:207410
HP:0012372	Abnormal eye morphology	4593	MUSK	OMIM:208150
HP:0012372	Abnormal eye morphology	54914	FOCAD	OMIM:619991
HP:0012372	Abnormal eye morphology	1857	DVL3	ORPHA:3107
HP:0012372	Abnormal eye morphology	1857	DVL3	OMIM:616894
HP:0012372	Abnormal eye morphology	7474	WNT5A	ORPHA:3107
HP:0012372	Abnormal eye morphology	7474	WNT5A	OMIM:180700
HP:0012372	Abnormal eye morphology	2535	FZD2	ORPHA:3107
HP:0012372	Abnormal eye morphology	1493	CTLA4	ORPHA:900
HP:0012372	Abnormal eye morphology	3115	HLA-DPB1	ORPHA:900
HP:0012372	Abnormal eye morphology	5657	PRTN3	ORPHA:900
HP:0012372	Abnormal eye morphology	3113	HLA-DPA1	ORPHA:900
HP:0012372	Abnormal eye morphology	79796	ALG9	ORPHA:79328
HP:0012372	Abnormal eye morphology	79796	ALG9	OMIM:263210
HP:0012372	Abnormal eye morphology	54928	BPNT2	OMIM:614078
HP:0012372	Abnormal eye morphology	3662	IRF4	ORPHA:3452
HP:0012372	Abnormal eye morphology	56975	FAM20C	ORPHA:1832
HP:0012372	Abnormal eye morphology	56975	FAM20C	OMIM:259775
HP:0012372	Abnormal eye morphology	2626	GATA4	OMIM:187500
HP:0012372	Abnormal eye morphology	2626	GATA4	ORPHA:3303
HP:0012372	Abnormal eye morphology	23414	ZFPM2	OMIM:187500
HP:0012372	Abnormal eye morphology	23414	ZFPM2	ORPHA:3303
HP:0012372	Abnormal eye morphology	1482	NKX2-5	OMIM:187500
HP:0012372	Abnormal eye morphology	1482	NKX2-5	ORPHA:3303
HP:0012372	Abnormal eye morphology	2627	GATA6	OMIM:187500
HP:0012372	Abnormal eye morphology	2627	GATA6	ORPHA:3303
HP:0012372	Abnormal eye morphology	249	ALPL	OMIM:241510
HP:0012372	Abnormal eye morphology	23483	TGDS	OMIM:616145
HP:0012372	Abnormal eye morphology	1028	CDKN1C	OMIM:130650
HP:0012372	Abnormal eye morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012372	Abnormal eye morphology	3481	IGF2	OMIM:130650
HP:0012372	Abnormal eye morphology	3784	KCNQ1	OMIM:130650
HP:0012372	Abnormal eye morphology	9652	SKIC3	OMIM:222470
HP:0012372	Abnormal eye morphology	4615	MYD88	ORPHA:33226
HP:0012372	Abnormal eye morphology	91252	SLC39A13	ORPHA:157965
HP:0012372	Abnormal eye morphology	5881	RAC3	OMIM:618577
HP:0012372	Abnormal eye morphology	6938	TCF12	ORPHA:35099
HP:0012372	Abnormal eye morphology	7545	ZIC1	ORPHA:35099
HP:0012372	Abnormal eye morphology	4921	DDR2	OMIM:271665
HP:0012372	Abnormal eye morphology	9488	PIGB	OMIM:618580
HP:0012372	Abnormal eye morphology	8925	HERC1	OMIM:617011
HP:0012372	Abnormal eye morphology	8925	HERC1	ORPHA:457359
HP:0012372	Abnormal eye morphology	56896	DPYSL5	OMIM:619435
HP:0012372	Abnormal eye morphology	2335	FN1	ORPHA:93315
HP:0012372	Abnormal eye morphology	137814	NKX2-6	ORPHA:3303
HP:0012372	Abnormal eye morphology	3791	KDR	ORPHA:3303
HP:0012372	Abnormal eye morphology	2657	GDF1	ORPHA:3303
HP:0012372	Abnormal eye morphology	140628	GATA5	ORPHA:3303
HP:0012372	Abnormal eye morphology	2324	FLT4	ORPHA:3303
HP:0012372	Abnormal eye morphology	10370	CITED2	ORPHA:3303
HP:0012372	Abnormal eye morphology	5515	PPP2CA	OMIM:618354
HP:0012372	Abnormal eye morphology	54820	NDE1	OMIM:605013
HP:0012372	Abnormal eye morphology	3643	INSR	OMIM:246200
HP:0012372	Abnormal eye morphology	64131	XYLT1	OMIM:615777
HP:0012372	Abnormal eye morphology	64131	XYLT1	ORPHA:370930
HP:0012372	Abnormal eye morphology	64131	XYLT1	ORPHA:1425
HP:0012372	Abnormal eye morphology	1781	DYNC1I2	OMIM:618492
HP:0012372	Abnormal eye morphology	633	BGN	OMIM:300989
HP:0012372	Abnormal eye morphology	9419	CRIPT	OMIM:615789
HP:0012372	Abnormal eye morphology	26040	SETBP1	ORPHA:798
HP:0012372	Abnormal eye morphology	6611	SMS	ORPHA:3063
HP:0012372	Abnormal eye morphology	10526	IPO8	OMIM:619472
HP:0012372	Abnormal eye morphology	23233	EXOC6B	ORPHA:93359
HP:0012372	Abnormal eye morphology	91461	PKDCC	OMIM:618821
HP:0012372	Abnormal eye morphology	2254	FGF9	OMIM:612961
HP:0012372	Abnormal eye morphology	8936	WASF1	OMIM:618707
HP:0012372	Abnormal eye morphology	6872	TAF1	OMIM:300966
HP:0012372	Abnormal eye morphology	374879	ZNF699	OMIM:619488
HP:0012372	Abnormal eye morphology	8318	CDC45	OMIM:617063
HP:0012372	Abnormal eye morphology	55755	CDK5RAP2	OMIM:604804
HP:0012372	Abnormal eye morphology	83737	ITCH	OMIM:613385
HP:0012372	Abnormal eye morphology	83737	ITCH	ORPHA:228426
HP:0012372	Abnormal eye morphology	1277	COL1A1	ORPHA:1310
HP:0012372	Abnormal eye morphology	55252	ASXL2	OMIM:617190
HP:0012372	Abnormal eye morphology	259266	ASPM	OMIM:608716
HP:0012372	Abnormal eye morphology	89970	RSPRY1	ORPHA:457395
HP:0012372	Abnormal eye morphology	10491	CRTAP	OMIM:610682
HP:0012372	Abnormal eye morphology	8815	BANF1	OMIM:614008
HP:0012372	Abnormal eye morphology	22800	RRAS2	ORPHA:648
HP:0012372	Abnormal eye morphology	867	CBL	ORPHA:648
HP:0012372	Abnormal eye morphology	6016	RIT1	ORPHA:648
HP:0012372	Abnormal eye morphology	6237	RRAS	ORPHA:648
HP:0012372	Abnormal eye morphology	5894	RAF1	ORPHA:648
HP:0012372	Abnormal eye morphology	22808	MRAS	ORPHA:648
HP:0012372	Abnormal eye morphology	200734	SPRED2	ORPHA:648
HP:0012372	Abnormal eye morphology	5781	PTPN11	ORPHA:648
HP:0012372	Abnormal eye morphology	5922	RASA2	ORPHA:648
HP:0012372	Abnormal eye morphology	55790	CSGALNACT1	ORPHA:1425
HP:0012372	Abnormal eye morphology	1513	CTSK	ORPHA:763
HP:0012372	Abnormal eye morphology	4654	MYOD1	OMIM:618975
HP:0012372	Abnormal eye morphology	51099	ABHD5	ORPHA:98907
HP:0012372	Abnormal eye morphology	51099	ABHD5	OMIM:275630
HP:0012372	Abnormal eye morphology	3978	LIG1	OMIM:619774
HP:0012372	Abnormal eye morphology	23328	SASH1	OMIM:618373
HP:0012372	Abnormal eye morphology	5648	MASP1	OMIM:257920
HP:0012372	Abnormal eye morphology	472	ATM	OMIM:208900
HP:0012372	Abnormal eye morphology	23064	SETX	OMIM:606002
HP:0012372	Abnormal eye morphology	165918	RNF168	ORPHA:420741
HP:0012372	Abnormal eye morphology	4629	MYH11	ORPHA:91387
HP:0012372	Abnormal eye morphology	4015	LOX	ORPHA:91387
HP:0012372	Abnormal eye morphology	4087	SMAD2	ORPHA:91387
HP:0012372	Abnormal eye morphology	7043	TGFB3	ORPHA:91387
HP:0012372	Abnormal eye morphology	5592	PRKG1	ORPHA:91387
HP:0012372	Abnormal eye morphology	4144	MAT2A	ORPHA:91387
HP:0012372	Abnormal eye morphology	23493	HEY2	ORPHA:91387
HP:0012372	Abnormal eye morphology	8076	MFAP5	ORPHA:91387
HP:0012372	Abnormal eye morphology	4638	MYLK	ORPHA:91387
HP:0012372	Abnormal eye morphology	197257	LDHD	OMIM:245450
HP:0012372	Abnormal eye morphology	1750	DLX6	ORPHA:2440
HP:0012372	Abnormal eye morphology	7979	SEM1	ORPHA:2440
HP:0012372	Abnormal eye morphology	8945	BTRC	ORPHA:2440
HP:0012372	Abnormal eye morphology	58513	EPS15L1	ORPHA:2440
HP:0012372	Abnormal eye morphology	6468	FBXW4	ORPHA:2440
HP:0012372	Abnormal eye morphology	7480	WNT10B	ORPHA:2440
HP:0012372	Abnormal eye morphology	1749	DLX5	ORPHA:2440
HP:0012372	Abnormal eye morphology	5978	REST	ORPHA:654
HP:0012372	Abnormal eye morphology	129563	DIS3L2	ORPHA:654
HP:0012372	Abnormal eye morphology	10155	TRIM28	ORPHA:654
HP:0012372	Abnormal eye morphology	11281	POU6F2	ORPHA:654
HP:0012372	Abnormal eye morphology	2719	GPC3	ORPHA:654
HP:0012372	Abnormal eye morphology	283120	H19	ORPHA:654
HP:0012372	Abnormal eye morphology	341640	FREM2	ORPHA:2052
HP:0012372	Abnormal eye morphology	23426	GRIP1	ORPHA:2052
HP:0012372	Abnormal eye morphology	85440	DOCK7	ORPHA:411986
HP:0012372	Abnormal eye morphology	158326	FREM1	OMIM:248450
HP:0012372	Abnormal eye morphology	158326	FREM1	ORPHA:2717
HP:0012372	Abnormal eye morphology	5915	RARB	OMIM:615524
HP:0012372	Abnormal eye morphology	5915	RARB	ORPHA:2470
HP:0012372	Abnormal eye morphology	64093	SMOC1	OMIM:206920
HP:0012372	Abnormal eye morphology	9723	SEMA3E	ORPHA:138
HP:0012372	Abnormal eye morphology	81788	NUAK2	OMIM:619452
HP:0012372	Abnormal eye morphology	219844	HYLS1	ORPHA:2189
HP:0012372	Abnormal eye morphology	286053	NSMCE2	OMIM:617253
HP:0012372	Abnormal eye morphology	286053	NSMCE2	ORPHA:436182
HP:0012372	Abnormal eye morphology	79087	ALG12	OMIM:607143
HP:0012372	Abnormal eye morphology	79087	ALG12	ORPHA:79324
HP:0012372	Abnormal eye morphology	2895	GRID2	OMIM:616204
HP:0012372	Abnormal eye morphology	7167	TPI1	OMIM:615512
HP:0012372	Abnormal eye morphology	6809	STX3	OMIM:619446
HP:0012372	Abnormal eye morphology	9179	AP4M1	OMIM:612936
HP:0012372	Abnormal eye morphology	4718	NDUFC2	OMIM:619170
HP:0012372	Abnormal eye morphology	84340	GFM2	ORPHA:565624
HP:0012372	Abnormal eye morphology	64834	ELOVL1	OMIM:618527
HP:0012372	Abnormal eye morphology	54664	TMEM106B	OMIM:617964
HP:0012372	Abnormal eye morphology	149371	EXOC8	OMIM:619076
HP:0012372	Abnormal eye morphology	1861	TOR1A	OMIM:618947
HP:0012372	Abnormal eye morphology	90624	LYRM7	OMIM:615838
HP:0012372	Abnormal eye morphology	3187	HNRNPH1	OMIM:620083
HP:0012372	Abnormal eye morphology	2055	CLN8	ORPHA:1947
HP:0012372	Abnormal eye morphology	55331	ACER3	OMIM:617762
HP:0012372	Abnormal eye morphology	54982	CLN6	OMIM:601780
HP:0012372	Abnormal eye morphology	1200	TPP1	OMIM:204500
HP:0012372	Abnormal eye morphology	284086	NEK8	OMIM:613824
HP:0012372	Abnormal eye morphology	1203	CLN5	OMIM:256731
HP:0012372	Abnormal eye morphology	1737	DLAT	ORPHA:79244
HP:0012372	Abnormal eye morphology	80216	ALPK1	OMIM:614979
HP:0012372	Abnormal eye morphology	356	FASLG	ORPHA:3261
HP:0012372	Abnormal eye morphology	5580	PRKCD	ORPHA:3261
HP:0012372	Abnormal eye morphology	843	CASP10	ORPHA:3261
HP:0012372	Abnormal eye morphology	10125	RASGRP1	ORPHA:3261
HP:0012372	Abnormal eye morphology	2859	GPR35	ORPHA:171
HP:0012372	Abnormal eye morphology	10507	SEMA4D	ORPHA:171
HP:0012372	Abnormal eye morphology	4485	MST1	ORPHA:171
HP:0012372	Abnormal eye morphology	939	CD27	OMIM:615122
HP:0012372	Abnormal eye morphology	151188	ARL6IP6	ORPHA:1556
HP:0012372	Abnormal eye morphology	55213	RCBTB1	OMIM:617175
HP:0012372	Abnormal eye morphology	5230	PGK1	OMIM:300653
HP:0012372	Abnormal eye morphology	5230	PGK1	ORPHA:713
HP:0012372	Abnormal eye morphology	2530	FUT8	OMIM:618005
HP:0012372	Abnormal eye morphology	667	DST	OMIM:614653
HP:0012372	Abnormal eye morphology	85446	ZFHX2	OMIM:147430
HP:0012372	Abnormal eye morphology	10681	GNB5	ORPHA:542306
HP:0012372	Abnormal eye morphology	5932	RBBP8	OMIM:606744
HP:0012372	Abnormal eye morphology	10013	HDAC6	ORPHA:163966
HP:0012372	Abnormal eye morphology	10013	HDAC6	OMIM:300863
HP:0012372	Abnormal eye morphology	11023	VAX1	OMIM:614402
HP:0012372	Abnormal eye morphology	1173	AP2M1	ORPHA:1942
HP:0012372	Abnormal eye morphology	340533	NEXMIF	ORPHA:1942
HP:0012372	Abnormal eye morphology	1106	CHD2	ORPHA:1942
HP:0012372	Abnormal eye morphology	6529	SLC6A1	ORPHA:1942
HP:0012372	Abnormal eye morphology	29980	DONSON	OMIM:251230
HP:0012372	Abnormal eye morphology	2639	GCDH	ORPHA:25
HP:0012372	Abnormal eye morphology	5551	PRF1	ORPHA:88
HP:0012372	Abnormal eye morphology	51119	SBDS	ORPHA:88
HP:0012372	Abnormal eye morphology	1785	DNM2	OMIM:615368
HP:0012372	Abnormal eye morphology	54892	NCAPG2	OMIM:618460
HP:0012372	Abnormal eye morphology	246243	RNASEH1	ORPHA:329336
HP:0012372	Abnormal eye morphology	80201	HKDC1	OMIM:619614
HP:0012372	Abnormal eye morphology	80324	PUS1	OMIM:600462
HP:0012372	Abnormal eye morphology	51057	WDPCP	ORPHA:110
HP:0012372	Abnormal eye morphology	84984	CEP19	ORPHA:110
HP:0012372	Abnormal eye morphology	81689	ISCA1	OMIM:617613
HP:0012372	Abnormal eye morphology	3032	HADHB	ORPHA:746
HP:0012372	Abnormal eye morphology	3033	HADH	ORPHA:71212
HP:0012372	Abnormal eye morphology	2937	GSS	OMIM:266130
HP:0012372	Abnormal eye morphology	644096	SDHAF1	ORPHA:3208
HP:0012372	Abnormal eye morphology	5052	PRDX1	OMIM:277400
HP:0012372	Abnormal eye morphology	57061	HYMAI	ORPHA:96191
HP:0012372	Abnormal eye morphology	5325	PLAGL1	ORPHA:96191
HP:0012372	Abnormal eye morphology	5422	POLA1	OMIM:301030
HP:0012372	Abnormal eye morphology	9131	AIFM1	ORPHA:83629
HP:0012372	Abnormal eye morphology	1663	DDX11	OMIM:613398
HP:0012372	Abnormal eye morphology	83479	DDX59	OMIM:174300
HP:0012372	Abnormal eye morphology	83483	PLVAP	OMIM:618183
HP:0012372	Abnormal eye morphology	55773	TBC1D23	OMIM:617695
HP:0012372	Abnormal eye morphology	22884	WDR37	OMIM:618652
HP:0012372	Abnormal eye morphology	8665	EIF3F	OMIM:618295
HP:0012372	Abnormal eye morphology	55690	PACS1	ORPHA:329224
HP:0012372	Abnormal eye morphology	121340	SP7	OMIM:613849
HP:0012372	Abnormal eye morphology	6228	RPS23	OMIM:617412
HP:0012372	Abnormal eye morphology	23028	KDM1A	OMIM:616728
HP:0012372	Abnormal eye morphology	23028	KDM1A	ORPHA:477993
HP:0012372	Abnormal eye morphology	4297	KMT2A	OMIM:605130
HP:0012372	Abnormal eye morphology	55603	TENT5A	OMIM:617952
HP:0012372	Abnormal eye morphology	23184	MESD	OMIM:618644
HP:0012372	Abnormal eye morphology	90993	CREB3L1	OMIM:616229
HP:0012372	Abnormal eye morphology	83480	PUS3	ORPHA:488627
HP:0012372	Abnormal eye morphology	83480	PUS3	OMIM:617051
HP:0012372	Abnormal eye morphology	9509	ADAMTS2	OMIM:225410
HP:0012372	Abnormal eye morphology	649	BMP1	OMIM:614856
HP:0012372	Abnormal eye morphology	5593	PRKG2	OMIM:619638
HP:0012372	Abnormal eye morphology	1836	SLC26A2	ORPHA:628
HP:0012372	Abnormal eye morphology	1528	CYB5A	ORPHA:621
HP:0012372	Abnormal eye morphology	1727	CYB5R3	ORPHA:621
HP:0012372	Abnormal eye morphology	1303	COL12A1	ORPHA:536516
HP:0012372	Abnormal eye morphology	715	C1R	OMIM:130080
HP:0012372	Abnormal eye morphology	10220	GDF11	OMIM:619122
HP:0012372	Abnormal eye morphology	57570	TRMT5	OMIM:616539
HP:0012372	Abnormal eye morphology	55898	UNC45A	OMIM:619377
HP:0012372	Abnormal eye morphology	5236	PGM1	OMIM:614921
HP:0012372	Abnormal eye morphology	5479	PPIB	OMIM:259440
HP:0012372	Abnormal eye morphology	81615	TMEM163	OMIM:620243
HP:0012372	Abnormal eye morphology	387733	IFITM5	OMIM:610967
HP:0012372	Abnormal eye morphology	60681	FKBP10	OMIM:610968
HP:0012372	Abnormal eye morphology	7471	WNT1	OMIM:615220
HP:0012372	Abnormal eye morphology	55151	TMEM38B	OMIM:615066
HP:0012372	Abnormal eye morphology	3636	INPPL1	ORPHA:2746
HP:0012372	Abnormal eye morphology	51013	EXOSC1	OMIM:619304
HP:0012372	Abnormal eye morphology	871	SERPINH1	OMIM:613848
HP:0012372	Abnormal eye morphology	78989	COLEC11	ORPHA:293843
HP:0012372	Abnormal eye morphology	84720	PIGO	ORPHA:247262
HP:0012372	Abnormal eye morphology	93210	PGAP3	ORPHA:247262
HP:0012372	Abnormal eye morphology	284098	PIGW	ORPHA:247262
HP:0012372	Abnormal eye morphology	27315	PGAP2	ORPHA:247262
HP:0012372	Abnormal eye morphology	84706	GPT2	OMIM:616281
HP:0012372	Abnormal eye morphology	84706	GPT2	ORPHA:477673
HP:0012372	Abnormal eye morphology	23019	CNOT1	OMIM:618500
HP:0012372	Abnormal eye morphology	23019	CNOT1	ORPHA:556955
HP:0012372	Abnormal eye morphology	55627	SMPD4	OMIM:618622
HP:0012372	Abnormal eye morphology	10060	ABCC9	OMIM:619719
HP:0012372	Abnormal eye morphology	5575	PRKAR1B	OMIM:619680
HP:0012372	Abnormal eye morphology	4983	OPHN1	OMIM:300486
HP:0012372	Abnormal eye morphology	29998	BICRA	OMIM:619325
HP:0012372	Abnormal eye morphology	5859	QARS1	OMIM:615760
HP:0012372	Abnormal eye morphology	2624	GATA2	OMIM:614038
HP:0012372	Abnormal eye morphology	22858	CILK1	OMIM:612651
HP:0012372	Abnormal eye morphology	84520	GON7	OMIM:619603
HP:0012372	Abnormal eye morphology	26153	KIF26A	OMIM:620156
HP:0012372	Abnormal eye morphology	55764	IFT122	ORPHA:1515
HP:0012372	Abnormal eye morphology	55764	IFT122	OMIM:218330
HP:0012372	Abnormal eye morphology	10559	SLC35A1	OMIM:603585
HP:0012372	Abnormal eye morphology	84987	COX14	OMIM:619053
HP:0012372	Abnormal eye morphology	57492	ARID1B	OMIM:135900
HP:0012372	Abnormal eye morphology	537	ATP6AP1	OMIM:300972
HP:0012372	Abnormal eye morphology	815	CAMK2A	OMIM:617798
HP:0012372	Abnormal eye morphology	5442	POLRMT	OMIM:619743
HP:0012372	Abnormal eye morphology	3188	HNRNPH2	OMIM:300986
HP:0012372	Abnormal eye morphology	51199	NIN	OMIM:614851
HP:0012372	Abnormal eye morphology	51199	NIN	ORPHA:319675
HP:0012372	Abnormal eye morphology	2783	GNB2	OMIM:619503
HP:0012372	Abnormal eye morphology	10801	SEPTIN9	OMIM:162100
HP:0012372	Abnormal eye morphology	2121	EVC	OMIM:193530
HP:0012372	Abnormal eye morphology	132884	EVC2	OMIM:193530
HP:0012372	Abnormal eye morphology	10056	FARSB	OMIM:613658
HP:0012372	Abnormal eye morphology	145258	GSC	OMIM:602471
HP:0012372	Abnormal eye morphology	90416	CCDC32	OMIM:619123
HP:0012372	Abnormal eye morphology	84919	PPP1R15B	OMIM:616817
HP:0012372	Abnormal eye morphology	84919	PPP1R15B	ORPHA:391408
HP:0012372	Abnormal eye morphology	93587	TRMT10A	ORPHA:391408
HP:0012372	Abnormal eye morphology	6714	SRC	OMIM:616937
HP:0012372	Abnormal eye morphology	84628	NTNG2	OMIM:618718
HP:0012372	Abnormal eye morphology	4488	MSX2	OMIM:604757
HP:0012372	Abnormal eye morphology	4677	NARS1	OMIM:619091
HP:0012372	Abnormal eye morphology	2678	GGT1	OMIM:231950
HP:0012372	Abnormal eye morphology	8295	TRRAP	OMIM:618454
HP:0012372	Abnormal eye morphology	1523	CUX1	OMIM:618330
HP:0012372	Abnormal eye morphology	84148	KAT8	OMIM:618974
HP:0012372	Abnormal eye morphology	1642	DDB1	OMIM:619426
HP:0012372	Abnormal eye morphology	51002	TPRKB	ORPHA:2065
HP:0012372	Abnormal eye morphology	55644	OSGEP	ORPHA:2065
HP:0012372	Abnormal eye morphology	57122	NUP107	ORPHA:2065
HP:0012372	Abnormal eye morphology	55746	NUP133	ORPHA:2065
HP:0012372	Abnormal eye morphology	112858	TP53RK	ORPHA:2065
HP:0012372	Abnormal eye morphology	8270	LAGE3	ORPHA:2065
HP:0012372	Abnormal eye morphology	64858	DCLRE1B	OMIM:620133
HP:0012372	Abnormal eye morphology	735	C9	OMIM:615591
HP:0012372	Abnormal eye morphology	5654	HTRA1	OMIM:610149
HP:0012372	Abnormal eye morphology	1471	CST3	OMIM:611953
HP:0012372	Abnormal eye morphology	80208	SPG11	OMIM:604360
HP:0012372	Abnormal eye morphology	50801	KCNK4	OMIM:618381
HP:0012372	Abnormal eye morphology	8022	LHX3	ORPHA:226307
HP:0012372	Abnormal eye morphology	84282	RNF135	ORPHA:137634
HP:0012372	Abnormal eye morphology	51807	TUBA8	ORPHA:250972
HP:0012372	Abnormal eye morphology	8854	ALDH1A2	OMIM:620025
HP:0012372	Abnormal eye morphology	8405	SPOP	OMIM:618828
HP:0012372	Abnormal eye morphology	256297	PTF1A	OMIM:609069
HP:0012372	Abnormal eye morphology	256297	PTF1A	ORPHA:65288
HP:0012372	Abnormal eye morphology	3190	HNRNPK	ORPHA:453504
HP:0012372	Abnormal eye morphology	3190	HNRNPK	ORPHA:352665
HP:0012372	Abnormal eye morphology	57459	GATAD2B	ORPHA:363686
HP:0012372	Abnormal eye morphology	2222	FDFT1	OMIM:618156
HP:0012372	Abnormal eye morphology	29123	ANKRD11	ORPHA:261250
HP:0012372	Abnormal eye morphology	2893	GRIA4	OMIM:617864
HP:0012372	Abnormal eye morphology	5500	PPP1CB	OMIM:617506
HP:0012372	Abnormal eye morphology	23499	MACF1	ORPHA:572013
HP:0012372	Abnormal eye morphology	387119	CEP85L	ORPHA:572013
HP:0012372	Abnormal eye morphology	7846	TUBA1A	ORPHA:171680
HP:0012372	Abnormal eye morphology	4208	MEF2C	ORPHA:228384
HP:0012372	Abnormal eye morphology	9968	MED12	ORPHA:93932
HP:0012372	Abnormal eye morphology	10381	TUBB3	ORPHA:300570
HP:0012372	Abnormal eye morphology	9928	KIF14	OMIM:617914
HP:0012372	Abnormal eye morphology	25930	PTPN23	OMIM:618890
HP:0012372	Abnormal eye morphology	132158	GLYCTK	OMIM:220120
HP:0012372	Abnormal eye morphology	5518	PPP2R1A	ORPHA:457284
HP:0012372	Abnormal eye morphology	4747	NEFL	ORPHA:101085
HP:0012372	Abnormal eye morphology	1188	CLCNKB	OMIM:607364
HP:0012372	Abnormal eye morphology	3476	IGBP1	OMIM:300472
HP:0012372	Abnormal eye morphology	3476	IGBP1	ORPHA:52055
HP:0012372	Abnormal eye morphology	4919	ROR1	OMIM:617654
HP:0012372	Abnormal eye morphology	116931	MED12L	OMIM:618872
HP:0012372	Abnormal eye morphology	64412	GZF1	OMIM:617662
HP:0012372	Abnormal eye morphology	95681	CEP41	ORPHA:220493
HP:0012372	Abnormal eye morphology	95681	CEP41	ORPHA:475
HP:0012372	Abnormal eye morphology	3149	HMGB3	OMIM:300915
HP:0012372	Abnormal eye morphology	51524	TMEM138	ORPHA:2318
HP:0012372	Abnormal eye morphology	23090	ZNF423	ORPHA:2318
HP:0012372	Abnormal eye morphology	65250	CPLANE1	ORPHA:475
HP:0012372	Abnormal eye morphology	200894	ARL13B	ORPHA:475
HP:0012372	Abnormal eye morphology	9731	CEP104	ORPHA:475
HP:0012372	Abnormal eye morphology	23247	KATNIP	ORPHA:475
HP:0012372	Abnormal eye morphology	219854	TMEM218	ORPHA:475
HP:0012372	Abnormal eye morphology	10464	PIBF1	ORPHA:475
HP:0012372	Abnormal eye morphology	80210	ARMC9	ORPHA:475
HP:0012372	Abnormal eye morphology	23116	TOGARAM1	ORPHA:475
HP:0012372	Abnormal eye morphology	25776	CBY1	ORPHA:475
HP:0012372	Abnormal eye morphology	286	ANK1	ORPHA:251066
HP:0012372	Abnormal eye morphology	8085	KMT2D	OMIM:620186
HP:0012372	Abnormal eye morphology	9338	TCEAL1	OMIM:301094
HP:0012372	Abnormal eye morphology	50945	TBX22	ORPHA:921
HP:0012372	Abnormal eye morphology	8929	PHOX2B	ORPHA:2151
HP:0012372	Abnormal eye morphology	4359	MPZ	ORPHA:101082
HP:0012372	Abnormal eye morphology	5167	ENPP1	ORPHA:51608
HP:0012372	Abnormal eye morphology	368	ABCC6	ORPHA:51608
HP:0012372	Abnormal eye morphology	51132	RLIM	OMIM:300978
HP:0012372	Abnormal eye morphology	5144	PDE4D	ORPHA:280651
HP:0012372	Abnormal eye morphology	5144	PDE4D	OMIM:614613
HP:0012372	Abnormal eye morphology	5594	MAPK1	OMIM:619087
HP:0012372	Abnormal eye morphology	4254	KITLG	OMIM:619947
HP:0012372	Abnormal eye morphology	6654	SOS1	OMIM:610733
HP:0012372	Abnormal eye morphology	29957	SLC25A24	ORPHA:2095
HP:0012372	Abnormal eye morphology	91179	SCARF2	OMIM:600920
HP:0012372	Abnormal eye morphology	8974	P4HA2	ORPHA:397
HP:0012372	Abnormal eye morphology	4524	MTHFR	ORPHA:395
HP:0012372	Abnormal eye morphology	55703	POLR3B	OMIM:614381
HP:0012372	Abnormal eye morphology	55703	POLR3B	OMIM:607694
HP:0012372	Abnormal eye morphology	10617	STAMBP	OMIM:614261
HP:0012372	Abnormal eye morphology	4099	MAG	OMIM:616680
HP:0012372	Abnormal eye morphology	51256	TBC1D7	OMIM:248000
HP:0012372	Abnormal eye morphology	55823	VPS11	OMIM:616683
HP:0012372	Abnormal eye morphology	55823	VPS11	ORPHA:466934
HP:0012372	Abnormal eye morphology	23446	SLC44A1	OMIM:618868
HP:0012372	Abnormal eye morphology	201595	STT3B	OMIM:615597
HP:0012372	Abnormal eye morphology	201595	STT3B	ORPHA:370924
HP:0012372	Abnormal eye morphology	84334	COA8	ORPHA:436271
HP:0012372	Abnormal eye morphology	6687	SPG7	ORPHA:99013
HP:0012372	Abnormal eye morphology	6687	SPG7	OMIM:607259
HP:0012372	Abnormal eye morphology	5354	PLP1	ORPHA:99015
HP:0012372	Abnormal eye morphology	5354	PLP1	ORPHA:280234
HP:0012372	Abnormal eye morphology	5354	PLP1	OMIM:312080
HP:0012372	Abnormal eye morphology	5354	PLP1	OMIM:312920
HP:0012372	Abnormal eye morphology	57165	GJC2	OMIM:608804
HP:0012372	Abnormal eye morphology	8566	PDXK	OMIM:618511
HP:0012372	Abnormal eye morphology	65993	MRPS34	OMIM:617664
HP:0012372	Abnormal eye morphology	6536	SLC6A9	OMIM:617301
HP:0012372	Abnormal eye morphology	51741	WWOX	OMIM:616211
HP:0012372	Abnormal eye morphology	51741	WWOX	ORPHA:442835
HP:0012372	Abnormal eye morphology	51741	WWOX	OMIM:614322
HP:0012372	Abnormal eye morphology	200205	IBA57	OMIM:616451
HP:0012372	Abnormal eye morphology	200205	IBA57	ORPHA:468661
HP:0012372	Abnormal eye morphology	200205	IBA57	OMIM:615330
HP:0012372	Abnormal eye morphology	6660	SOX5	ORPHA:313892
HP:0012372	Abnormal eye morphology	6660	SOX5	OMIM:616803
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309271
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309263
HP:0012372	Abnormal eye morphology	410	ARSA	OMIM:250100
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309256
HP:0012372	Abnormal eye morphology	7345	UCHL1	OMIM:615491
HP:0012372	Abnormal eye morphology	7345	UCHL1	OMIM:620221
HP:0012372	Abnormal eye morphology	5105	PCK1	OMIM:261680
HP:0012372	Abnormal eye morphology	7994	KAT6A	ORPHA:457193
HP:0012372	Abnormal eye morphology	7994	KAT6A	OMIM:616268
HP:0012372	Abnormal eye morphology	9326	ZNHIT3	ORPHA:2836
HP:0012372	Abnormal eye morphology	9326	ZNHIT3	OMIM:260565
HP:0012372	Abnormal eye morphology	547	KIF1A	ORPHA:2836
HP:0012372	Abnormal eye morphology	547	KIF1A	OMIM:614255
HP:0012372	Abnormal eye morphology	55681	SCYL2	OMIM:618766
HP:0012372	Abnormal eye morphology	55149	MTPAP	ORPHA:254343
HP:0012372	Abnormal eye morphology	55149	MTPAP	OMIM:613672
HP:0012372	Abnormal eye morphology	54872	PIGG	ORPHA:280
HP:0012372	Abnormal eye morphology	7469	NELFA	ORPHA:280
HP:0012372	Abnormal eye morphology	83636	C19orf12	OMIM:614298
HP:0012372	Abnormal eye morphology	83636	C19orf12	OMIM:615043
HP:0012372	Abnormal eye morphology	5833	PCYT2	OMIM:618770
HP:0012372	Abnormal eye morphology	388962	BOLA3	OMIM:614299
HP:0012372	Abnormal eye morphology	79731	NARS2	OMIM:616239
HP:0012372	Abnormal eye morphology	3737	KCNA2	ORPHA:442835
HP:0012372	Abnormal eye morphology	1759	DNM1	ORPHA:442835
HP:0012372	Abnormal eye morphology	1759	DNM1	OMIM:620352
HP:0012372	Abnormal eye morphology	10991	SLC38A3	ORPHA:442835
HP:0012372	Abnormal eye morphology	51343	FZR1	ORPHA:442835
HP:0012372	Abnormal eye morphology	22906	TRAK1	ORPHA:442835
HP:0012372	Abnormal eye morphology	2566	GABRG2	ORPHA:442835
HP:0012372	Abnormal eye morphology	1917	EEF1A2	ORPHA:442835
HP:0012372	Abnormal eye morphology	2561	GABRB2	ORPHA:442835
HP:0012372	Abnormal eye morphology	8831	SYNGAP1	ORPHA:442835
HP:0012372	Abnormal eye morphology	7532	YWHAG	ORPHA:442835
HP:0012372	Abnormal eye morphology	6328	SCN3A	ORPHA:442835
HP:0012372	Abnormal eye morphology	2558	GABRA5	ORPHA:442835
HP:0012372	Abnormal eye morphology	781	CACNA2D1	ORPHA:442835
HP:0012372	Abnormal eye morphology	2906	GRIN2D	ORPHA:442835
HP:0012372	Abnormal eye morphology	10659	CELF2	ORPHA:442835
HP:0012372	Abnormal eye morphology	774	CACNA1B	ORPHA:442835
HP:0012372	Abnormal eye morphology	1213	CLTC	ORPHA:442835
HP:0012372	Abnormal eye morphology	23334	SZT2	ORPHA:442835
HP:0012372	Abnormal eye morphology	51412	ACTL6B	ORPHA:442835
HP:0012372	Abnormal eye morphology	348980	HCN1	ORPHA:442835
HP:0012372	Abnormal eye morphology	6506	SLC1A2	ORPHA:442835
HP:0012372	Abnormal eye morphology	8867	SYNJ1	ORPHA:442835
HP:0012372	Abnormal eye morphology	2258	FGF13	ORPHA:442835
HP:0012372	Abnormal eye morphology	477	ATP1A2	ORPHA:442835
HP:0012372	Abnormal eye morphology	3745	KCNB1	ORPHA:442835
HP:0012372	Abnormal eye morphology	284111	SLC13A5	ORPHA:442835
HP:0012372	Abnormal eye morphology	25977	NECAP1	ORPHA:442835
HP:0012372	Abnormal eye morphology	16	AARS1	ORPHA:442835
HP:0012372	Abnormal eye morphology	6334	SCN8A	ORPHA:442835
HP:0012372	Abnormal eye morphology	22866	CNKSR2	ORPHA:442835
HP:0012372	Abnormal eye morphology	9568	GABBR2	ORPHA:442835
HP:0012372	Abnormal eye morphology	2555	GABRA2	ORPHA:442835
HP:0012372	Abnormal eye morphology	55152	DALRD3	ORPHA:442835
HP:0012372	Abnormal eye morphology	773	CACNA1A	ORPHA:442835
HP:0012372	Abnormal eye morphology	26999	CYFIP2	ORPHA:442835
HP:0012372	Abnormal eye morphology	4915	NTRK2	ORPHA:442835
HP:0012372	Abnormal eye morphology	4915	NTRK2	OMIM:617830
HP:0012372	Abnormal eye morphology	25973	PARS2	ORPHA:442835
HP:0012372	Abnormal eye morphology	25973	PARS2	OMIM:618437
HP:0012372	Abnormal eye morphology	23097	CDK19	ORPHA:442835
HP:0012372	Abnormal eye morphology	5530	PPP3CA	ORPHA:442835
HP:0012372	Abnormal eye morphology	478	ATP1A3	ORPHA:442835
HP:0012372	Abnormal eye morphology	478	ATP1A3	OMIM:601338
HP:0012372	Abnormal eye morphology	478	ATP1A3	ORPHA:1171
HP:0012372	Abnormal eye morphology	9927	MFN2	OMIM:601152
HP:0012372	Abnormal eye morphology	9927	MFN2	OMIM:609260
HP:0012372	Abnormal eye morphology	9927	MFN2	OMIM:617087
HP:0012372	Abnormal eye morphology	9927	MFN2	ORPHA:99947
HP:0012372	Abnormal eye morphology	8241	RBM10	OMIM:311900
HP:0012372	Abnormal eye morphology	8241	RBM10	ORPHA:2886
HP:0012372	Abnormal eye morphology	92609	TIMM50	OMIM:617698
HP:0012372	Abnormal eye morphology	92609	TIMM50	ORPHA:505216
HP:0012372	Abnormal eye morphology	51692	CPSF3	OMIM:619876
HP:0012372	Abnormal eye morphology	150468	CKAP2L	OMIM:272440
HP:0012372	Abnormal eye morphology	150468	CKAP2L	ORPHA:3255
HP:0012372	Abnormal eye morphology	8818	DPM2	OMIM:615042
HP:0012372	Abnormal eye morphology	8818	DPM2	ORPHA:329178
HP:0012372	Abnormal eye morphology	122961	ISCA2	OMIM:616370
HP:0012372	Abnormal eye morphology	8733	GPAA1	ORPHA:529665
HP:0012372	Abnormal eye morphology	8733	GPAA1	OMIM:617810
HP:0012372	Abnormal eye morphology	4849	CNOT3	OMIM:618672
HP:0012372	Abnormal eye morphology	56947	MFF	ORPHA:485421
HP:0012372	Abnormal eye morphology	56947	MFF	OMIM:617086
HP:0012372	Abnormal eye morphology	7841	MOGS	ORPHA:79330
HP:0012372	Abnormal eye morphology	7841	MOGS	OMIM:606056
HP:0012372	Abnormal eye morphology	5981	RFC1	ORPHA:504476
HP:0012372	Abnormal eye morphology	197258	FCSK	OMIM:618324
HP:0012372	Abnormal eye morphology	2395	FXN	OMIM:229300
HP:0012372	Abnormal eye morphology	2395	FXN	ORPHA:95
HP:0012372	Abnormal eye morphology	10463	SLC30A9	OMIM:617595
HP:0012372	Abnormal eye morphology	125988	MICOS13	OMIM:618329
HP:0012372	Abnormal eye morphology	9725	TMEM63A	OMIM:618688
HP:0012372	Abnormal eye morphology	9526	MPDU1	ORPHA:79323
HP:0012372	Abnormal eye morphology	9526	MPDU1	OMIM:609180
HP:0012372	Abnormal eye morphology	1967	EIF2B1	OMIM:603896
HP:0012372	Abnormal eye morphology	10533	ATG7	OMIM:619422
HP:0012372	Abnormal eye morphology	91137	SLC25A46	OMIM:619303
HP:0012372	Abnormal eye morphology	91137	SLC25A46	ORPHA:2254
HP:0012372	Abnormal eye morphology	91137	SLC25A46	OMIM:616505
HP:0012372	Abnormal eye morphology	55656	INTS8	OMIM:618572
HP:0012372	Abnormal eye morphology	8905	AP1S2	OMIM:304340
HP:0012372	Abnormal eye morphology	4594	MMUT	ORPHA:79312
HP:0012372	Abnormal eye morphology	4594	MMUT	ORPHA:289916
HP:0012372	Abnormal eye morphology	7291	TWIST1	ORPHA:794
HP:0012372	Abnormal eye morphology	4549	MT-RNR1	ORPHA:551
HP:0012372	Abnormal eye morphology	4571	MT-TP	ORPHA:551
HP:0012372	Abnormal eye morphology	4564	MT-TH	ORPHA:551
HP:0012372	Abnormal eye morphology	4564	MT-TH	ORPHA:550
HP:0012372	Abnormal eye morphology	10785	WDR4	OMIM:618346
HP:0012372	Abnormal eye morphology	50	ACO2	OMIM:616289
HP:0012372	Abnormal eye morphology	50	ACO2	OMIM:614559
HP:0012372	Abnormal eye morphology	51728	POLR3K	OMIM:619310
HP:0012372	Abnormal eye morphology	846	CASR	ORPHA:428
HP:0012372	Abnormal eye morphology	23345	SYNE1	OMIM:610743
HP:0012372	Abnormal eye morphology	128869	PIGU	OMIM:618590
HP:0012372	Abnormal eye morphology	81790	RNF170	OMIM:619686
HP:0012372	Abnormal eye morphology	23102	TBC1D2B	OMIM:619323
HP:0012372	Abnormal eye morphology	1436	CSF1R	OMIM:618476
HP:0012372	Abnormal eye morphology	79868	ALG13	OMIM:300884
HP:0012372	Abnormal eye morphology	6651	SON	OMIM:617140
HP:0012372	Abnormal eye morphology	6651	SON	ORPHA:500150
HP:0012372	Abnormal eye morphology	10978	CLP1	ORPHA:411493
HP:0012372	Abnormal eye morphology	8882	ZPR1	OMIM:619321
HP:0012372	Abnormal eye morphology	11152	WDR45	ORPHA:329284
HP:0012372	Abnormal eye morphology	154881	KCTD7	OMIM:611726
HP:0012372	Abnormal eye morphology	154881	KCTD7	ORPHA:263516
HP:0012372	Abnormal eye morphology	79944	L2HGDH	OMIM:236792
HP:0012372	Abnormal eye morphology	8869	ST3GAL5	OMIM:609056
HP:0012372	Abnormal eye morphology	6904	TBCD	ORPHA:496641
HP:0012372	Abnormal eye morphology	6904	TBCD	OMIM:617193
HP:0012372	Abnormal eye morphology	5934	RBL2	OMIM:619690
HP:0012372	Abnormal eye morphology	56915	EXOSC5	OMIM:619576
HP:0012372	Abnormal eye morphology	123263	MTFMT	OMIM:618248
HP:0012372	Abnormal eye morphology	123263	MTFMT	OMIM:614947
HP:0012372	Abnormal eye morphology	123263	MTFMT	ORPHA:255241
HP:0012372	Abnormal eye morphology	2077	ERF	ORPHA:207
HP:0012372	Abnormal eye morphology	549	AUH	OMIM:250950
HP:0012372	Abnormal eye morphology	112812	FDX2	OMIM:251900
HP:0012372	Abnormal eye morphology	51102	MECR	OMIM:617282
HP:0012372	Abnormal eye morphology	51102	MECR	ORPHA:508093
HP:0012372	Abnormal eye morphology	23258	DENND5A	OMIM:617281
HP:0012372	Abnormal eye morphology	9758	FRMPD4	OMIM:300983
HP:0012372	Abnormal eye morphology	54681	P4HTM	OMIM:618493
HP:0012372	Abnormal eye morphology	84065	TMEM222	OMIM:619470
HP:0012372	Abnormal eye morphology	22978	NT5C2	ORPHA:320396
HP:0012372	Abnormal eye morphology	22978	NT5C2	OMIM:613162
HP:0012372	Abnormal eye morphology	79152	FA2H	ORPHA:171629
HP:0012372	Abnormal eye morphology	79152	FA2H	ORPHA:329308
HP:0012372	Abnormal eye morphology	79152	FA2H	OMIM:612319
HP:0012372	Abnormal eye morphology	9373	PLAA	ORPHA:521426
HP:0012372	Abnormal eye morphology	9373	PLAA	OMIM:617527
HP:0012372	Abnormal eye morphology	23516	SLC39A14	OMIM:144755
HP:0012372	Abnormal eye morphology	23636	NUP62	ORPHA:225154
HP:0012372	Abnormal eye morphology	23636	NUP62	OMIM:271930
HP:0012372	Abnormal eye morphology	131118	DNAJC19	ORPHA:66634
HP:0012372	Abnormal eye morphology	131118	DNAJC19	OMIM:610198
HP:0012372	Abnormal eye morphology	51594	NBAS	OMIM:614800
HP:0012372	Abnormal eye morphology	11043	MID2	OMIM:300928
HP:0012372	Abnormal eye morphology	84233	TMEM126A	OMIM:612989
HP:0012372	Abnormal eye morphology	9897	WASHC5	ORPHA:7
HP:0012372	Abnormal eye morphology	28952	CCDC22	ORPHA:7
HP:0012372	Abnormal eye morphology	1678	TIMM8A	ORPHA:52368
HP:0012372	Abnormal eye morphology	129285	PPP1R21	OMIM:619383
HP:0012372	Abnormal eye morphology	114034	TOE1	ORPHA:284339
HP:0012372	Abnormal eye morphology	114034	TOE1	OMIM:614969
HP:0012372	Abnormal eye morphology	1496	CTNNA2	OMIM:618174
HP:0012372	Abnormal eye morphology	27445	PCLO	OMIM:608027
HP:0012372	Abnormal eye morphology	8398	PLA2G6	OMIM:610217
HP:0012372	Abnormal eye morphology	8398	PLA2G6	ORPHA:35069
HP:0012372	Abnormal eye morphology	8398	PLA2G6	OMIM:256600
HP:0012372	Abnormal eye morphology	10134	BCAP31	OMIM:300475
HP:0012372	Abnormal eye morphology	10134	BCAP31	ORPHA:369939
HP:0012372	Abnormal eye morphology	23769	FLRT1	ORPHA:320406
HP:0012372	Abnormal eye morphology	64837	KLC2	ORPHA:320406
HP:0012372	Abnormal eye morphology	64837	KLC2	OMIM:609541
HP:0012372	Abnormal eye morphology	4570	MT-TN	OMIM:220110
HP:0012372	Abnormal eye morphology	6834	SURF1	OMIM:220110
HP:0012372	Abnormal eye morphology	6834	SURF1	ORPHA:70474
HP:0012372	Abnormal eye morphology	6834	SURF1	ORPHA:255241
HP:0012372	Abnormal eye morphology	25821	MTO1	OMIM:614702
HP:0012372	Abnormal eye morphology	2896	GRN	OMIM:614706
HP:0012372	Abnormal eye morphology	79581	SLC52A2	OMIM:614707
HP:0012372	Abnormal eye morphology	51218	GLRX5	ORPHA:401866
HP:0012372	Abnormal eye morphology	51218	GLRX5	OMIM:616859
HP:0012372	Abnormal eye morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0012372	Abnormal eye morphology	9640	ZNF592	ORPHA:83472
HP:0012372	Abnormal eye morphology	2475	MTOR	ORPHA:99802
HP:0012372	Abnormal eye morphology	10000	AKT3	ORPHA:99802
HP:0012372	Abnormal eye morphology	271	AMPD2	OMIM:615809
HP:0012372	Abnormal eye morphology	51204	TACO1	OMIM:619052
HP:0012372	Abnormal eye morphology	51204	TACO1	ORPHA:255241
HP:0012372	Abnormal eye morphology	55037	PTCD3	OMIM:619057
HP:0012372	Abnormal eye morphology	1757	SARDH	ORPHA:3129
HP:0012372	Abnormal eye morphology	55157	DARS2	ORPHA:137898
HP:0012372	Abnormal eye morphology	10367	MICU1	ORPHA:401768
HP:0012372	Abnormal eye morphology	10367	MICU1	OMIM:615673
HP:0012372	Abnormal eye morphology	10382	TUBB4A	OMIM:612438
HP:0012372	Abnormal eye morphology	84947	SERAC1	OMIM:614739
HP:0012372	Abnormal eye morphology	11340	EXOSC8	ORPHA:2254
HP:0012372	Abnormal eye morphology	5393	EXOSC9	ORPHA:2254
HP:0012372	Abnormal eye morphology	23287	AGTPBP1	ORPHA:2254
HP:0012372	Abnormal eye morphology	51010	EXOSC3	ORPHA:2254
HP:0012372	Abnormal eye morphology	7443	VRK1	ORPHA:2254
HP:0012372	Abnormal eye morphology	3748	KCNC3	ORPHA:98768
HP:0012372	Abnormal eye morphology	3748	KCNC3	OMIM:605259
HP:0012372	Abnormal eye morphology	8050	PDHX	OMIM:245349
HP:0012372	Abnormal eye morphology	4256	MGP	ORPHA:85202
HP:0012372	Abnormal eye morphology	471	ATIC	OMIM:608688
HP:0012372	Abnormal eye morphology	23065	EMC1	ORPHA:480898
HP:0012372	Abnormal eye morphology	23065	EMC1	OMIM:616875
HP:0012372	Abnormal eye morphology	6310	ATXN1	ORPHA:98755
HP:0012372	Abnormal eye morphology	6310	ATXN1	OMIM:164400
HP:0012372	Abnormal eye morphology	55275	VPS53	OMIM:615851
HP:0012372	Abnormal eye morphology	283989	TSEN54	OMIM:277470
HP:0012372	Abnormal eye morphology	28962	OSTM1	OMIM:259720
HP:0012372	Abnormal eye morphology	23590	PDSS1	OMIM:614651
HP:0012372	Abnormal eye morphology	9230	RAB11B	OMIM:617807
HP:0012372	Abnormal eye morphology	90417	KNSTRN	OMIM:613328
HP:0012372	Abnormal eye morphology	5293	PIK3CD	OMIM:613328
HP:0012372	Abnormal eye morphology	10075	HUWE1	OMIM:309590
HP:0012372	Abnormal eye morphology	53616	ADAM22	OMIM:617933
HP:0012372	Abnormal eye morphology	998	CDC42	OMIM:616737
HP:0012372	Abnormal eye morphology	998	CDC42	ORPHA:487796
HP:0012372	Abnormal eye morphology	10560	SLC19A2	ORPHA:49827
HP:0012372	Abnormal eye morphology	10560	SLC19A2	OMIM:249270
HP:0012372	Abnormal eye morphology	10342	TFG	ORPHA:431329
HP:0012372	Abnormal eye morphology	10342	TFG	OMIM:615658
HP:0012372	Abnormal eye morphology	9512	PMPCB	OMIM:617954
HP:0012372	Abnormal eye morphology	2058	EPRS1	OMIM:617951
HP:0012372	Abnormal eye morphology	54974	THG1L	OMIM:618800
HP:0012372	Abnormal eye morphology	5604	MAP2K1	ORPHA:1340
HP:0012372	Abnormal eye morphology	259232	NALCN	OMIM:615419
HP:0012372	Abnormal eye morphology	128989	TANGO2	ORPHA:480864
HP:0012372	Abnormal eye morphology	128989	TANGO2	OMIM:616878
HP:0012372	Abnormal eye morphology	57511	COG6	OMIM:614576
HP:0012372	Abnormal eye morphology	1729	DIAPH1	OMIM:616632
HP:0012372	Abnormal eye morphology	51501	HIKESHI	OMIM:616881
HP:0012372	Abnormal eye morphology	22934	RPIA	OMIM:608611
HP:0012372	Abnormal eye morphology	4714	NDUFB8	ORPHA:70474
HP:0012372	Abnormal eye morphology	9997	SCO2	ORPHA:70474
HP:0012372	Abnormal eye morphology	51124	IER3IP1	OMIM:614231
HP:0012372	Abnormal eye morphology	55704	CCDC88A	OMIM:617507
HP:0012372	Abnormal eye morphology	80704	SLC19A3	ORPHA:255241
HP:0012372	Abnormal eye morphology	55967	NDUFA12	ORPHA:255241
HP:0012372	Abnormal eye morphology	137682	NDUFAF6	ORPHA:255241
HP:0012372	Abnormal eye morphology	5160	PDHA1	ORPHA:255241
HP:0012372	Abnormal eye morphology	100131801	PET100	ORPHA:255241
HP:0012372	Abnormal eye morphology	1355	COX15	ORPHA:255241
HP:0012372	Abnormal eye morphology	1892	ECHS1	ORPHA:255241
HP:0012372	Abnormal eye morphology	4705	NDUFA10	ORPHA:255241
HP:0012372	Abnormal eye morphology	51601	LIPT1	ORPHA:255241
HP:0012372	Abnormal eye morphology	4695	NDUFA2	ORPHA:255241
HP:0012372	Abnormal eye morphology	4697	NDUFA4	ORPHA:255241
HP:0012372	Abnormal eye morphology	5538	PPT1	OMIM:256730
HP:0012372	Abnormal eye morphology	57410	SCYL1	ORPHA:466794
HP:0012372	Abnormal eye morphology	35	ACADS	ORPHA:26792
HP:0012372	Abnormal eye morphology	10844	TUBGCP2	OMIM:618737
HP:0012372	Abnormal eye morphology	221927	BRAT1	OMIM:614498
HP:0012372	Abnormal eye morphology	55753	OGDHL	OMIM:619701
HP:0012372	Abnormal eye morphology	10939	AFG3L2	OMIM:618977
HP:0012372	Abnormal eye morphology	5297	PI4KA	OMIM:619708
HP:0012372	Abnormal eye morphology	344	APOC2	OMIM:207750
HP:0012372	Abnormal eye morphology	2538	G6PC1	OMIM:232200
HP:0012372	Abnormal eye morphology	338328	GPIHBP1	OMIM:615947
HP:0012372	Abnormal eye morphology	4023	LPL	OMIM:238600
HP:0012372	Abnormal eye morphology	6890	TAP1	OMIM:604571
HP:0012372	Abnormal eye morphology	6891	TAP2	OMIM:604571
HP:0012372	Abnormal eye morphology	6892	TAPBP	OMIM:604571
HP:0012372	Abnormal eye morphology	1289	COL5A1	OMIM:130000
HP:0012372	Abnormal eye morphology	2201	FBN2	OMIM:121050
HP:0012372	Abnormal eye morphology	2201	FBN2	ORPHA:115
HP:0012372	Abnormal eye morphology	170691	ADAMTS17	OMIM:613195
HP:0012372	Abnormal eye morphology	4088	SMAD3	OMIM:613795
HP:0012372	Abnormal eye morphology	7048	TGFBR2	OMIM:610168
HP:0012372	Abnormal eye morphology	10157	AASS	OMIM:238700
HP:0012372	Abnormal eye morphology	6821	SUOX	OMIM:272300
HP:0012372	Abnormal eye morphology	7046	TGFBR1	OMIM:609192
HP:0012372	Abnormal eye morphology	336	APOA2	OMIM:143890
HP:0012372	Abnormal eye morphology	2053	EPHX2	OMIM:143890
HP:0012372	Abnormal eye morphology	10842	PPP1R17	OMIM:143890
HP:0012372	Abnormal eye morphology	2690	GHR	OMIM:143890
HP:0012372	Abnormal eye morphology	3990	LIPC	OMIM:614025
HP:0012372	Abnormal eye morphology	50964	SOST	OMIM:269500
HP:0012372	Abnormal eye morphology	50964	SOST	OMIM:122860
HP:0012372	Abnormal eye morphology	3590	IL11RA	OMIM:614188
HP:0012372	Abnormal eye morphology	6598	SMARCB1	ORPHA:2495
HP:0012372	Abnormal eye morphology	84231	TRAF7	ORPHA:2495
HP:0012372	Abnormal eye morphology	6608	SMO	ORPHA:2495
HP:0012372	Abnormal eye morphology	7015	TERT	ORPHA:2495
HP:0012372	Abnormal eye morphology	6605	SMARCE1	ORPHA:2495
HP:0012372	Abnormal eye morphology	6522	SLC4A2	OMIM:620366
HP:0012372	Abnormal eye morphology	7386	UQCRFS1	OMIM:618775
HP:0012372	Abnormal eye morphology	6135	RPL11	ORPHA:124
HP:0012372	Abnormal eye morphology	6138	RPL15	ORPHA:124
HP:0012372	Abnormal eye morphology	6229	RPS24	ORPHA:124
HP:0012372	Abnormal eye morphology	6125	RPL5	ORPHA:124
HP:0012372	Abnormal eye morphology	6204	RPS10	ORPHA:124
HP:0012372	Abnormal eye morphology	6224	RPS20	ORPHA:124
HP:0012372	Abnormal eye morphology	6165	RPL35A	ORPHA:124
HP:0012372	Abnormal eye morphology	6223	RPS19	ORPHA:124
HP:0012372	Abnormal eye morphology	6232	RPS27	ORPHA:124
HP:0012372	Abnormal eye morphology	6231	RPS26	ORPHA:124
HP:0012372	Abnormal eye morphology	11224	RPL35	ORPHA:124
HP:0012372	Abnormal eye morphology	6160	RPL31	ORPHA:124
HP:0012372	Abnormal eye morphology	6218	RPS17	ORPHA:124
HP:0012372	Abnormal eye morphology	6201	RPS7	ORPHA:124
HP:0012372	Abnormal eye morphology	6155	RPL27	ORPHA:124
HP:0012372	Abnormal eye morphology	6154	RPL26	ORPHA:124
HP:0012372	Abnormal eye morphology	6210	RPS15A	ORPHA:124
HP:0012372	Abnormal eye morphology	90121	TSR2	ORPHA:124
HP:0012372	Abnormal eye morphology	6141	RPL18	ORPHA:124
HP:0012372	Abnormal eye morphology	6235	RPS29	ORPHA:124
HP:0012372	Abnormal eye morphology	6234	RPS28	ORPHA:124
HP:0012372	Abnormal eye morphology	51816	ADA2	ORPHA:124
HP:0012372	Abnormal eye morphology	389692	MAFA	OMIM:147630
HP:0012372	Abnormal eye morphology	6736	SRY	ORPHA:1772
HP:0012372	Abnormal eye morphology	169792	GLIS3	OMIM:610199
HP:0012372	Abnormal eye morphology	5831	PYCR1	OMIM:614438
HP:0012372	Abnormal eye morphology	81846	SBF2	ORPHA:99956
HP:0012372	Abnormal eye morphology	10535	RNASEH2A	ORPHA:51
HP:0012372	Abnormal eye morphology	84153	RNASEH2C	ORPHA:51
HP:0012372	Abnormal eye morphology	25939	SAMHD1	ORPHA:51
HP:0012372	Abnormal eye morphology	79621	RNASEH2B	ORPHA:51
HP:0012372	Abnormal eye morphology	100147744	RNU7-1	ORPHA:51
HP:0012372	Abnormal eye morphology	134353	LSM11	ORPHA:51
HP:0012372	Abnormal eye morphology	64135	IFIH1	ORPHA:51
HP:0012372	Abnormal eye morphology	124583	CANT1	OMIM:251450
HP:0012372	Abnormal eye morphology	2316	FLNA	ORPHA:90652
HP:0012372	Abnormal eye morphology	27235	COQ2	OMIM:146500
HP:0012372	Abnormal eye morphology	9469	CHST3	OMIM:245600
HP:0012372	Abnormal eye morphology	26229	B3GAT3	OMIM:245600
HP:0012372	Abnormal eye morphology	5296	PIK3R2	OMIM:603387
HP:0012372	Abnormal eye morphology	3763	KCNJ6	ORPHA:435628
HP:0012372	Abnormal eye morphology	3763	KCNJ6	OMIM:614098
HP:0012372	Abnormal eye morphology	285590	SH3PXD2B	OMIM:249420
HP:0012372	Abnormal eye morphology	170302	ARX	OMIM:300004
HP:0012372	Abnormal eye morphology	3758	KCNJ1	OMIM:241200
HP:0012372	Abnormal eye morphology	22856	CHSY1	ORPHA:363417
HP:0012372	Abnormal eye morphology	545	ATR	OMIM:210600
HP:0012372	Abnormal eye morphology	8573	CASK	OMIM:300749
HP:0012372	Abnormal eye morphology	91801	ALKBH8	OMIM:618504
HP:0012372	Abnormal eye morphology	55650	PIGV	OMIM:239300
HP:0012372	Abnormal eye morphology	57498	KIDINS220	OMIM:617296
HP:0012372	Abnormal eye morphology	3291	HSD11B2	ORPHA:320
HP:0012372	Abnormal eye morphology	3291	HSD11B2	OMIM:218030
HP:0012372	Abnormal eye morphology	1788	DNMT3A	ORPHA:276621
HP:0012372	Abnormal eye morphology	2034	EPAS1	ORPHA:276621
HP:0012372	Abnormal eye morphology	2261	FGFR3	ORPHA:2363
HP:0012372	Abnormal eye morphology	2255	FGF10	ORPHA:2363
HP:0012372	Abnormal eye morphology	3141	HLCS	ORPHA:79242
HP:0012372	Abnormal eye morphology	6335	SCN9A	OMIM:133020
HP:0012372	Abnormal eye morphology	54941	RNF125	OMIM:616260
HP:0012372	Abnormal eye morphology	55699	IARS2	OMIM:616007
HP:0012372	Abnormal eye morphology	404672	GTF2H5	ORPHA:33364
HP:0012372	Abnormal eye morphology	833	CARS1	ORPHA:33364
HP:0012372	Abnormal eye morphology	7737	RNF113A	ORPHA:33364
HP:0012372	Abnormal eye morphology	136647	MPLKIP	ORPHA:33364
HP:0012372	Abnormal eye morphology	136647	MPLKIP	OMIM:234050
HP:0012372	Abnormal eye morphology	6897	TARS1	ORPHA:33364
HP:0012372	Abnormal eye morphology	2961	GTF2E2	ORPHA:33364
HP:0012372	Abnormal eye morphology	22861	NLRP1	OMIM:617388
HP:0012372	Abnormal eye morphology	4081	MAB21L1	OMIM:618479
HP:0012372	Abnormal eye morphology	3930	LBR	ORPHA:779
HP:0012372	Abnormal eye morphology	165	AEBP1	ORPHA:536532
HP:0012372	Abnormal eye morphology	56244	BTNL2	ORPHA:797
HP:0012372	Abnormal eye morphology	8787	RGS9	OMIM:608415
HP:0012372	Abnormal eye morphology	6314	ATXN7	ORPHA:94147
HP:0012372	Abnormal eye morphology	6591	SNAI2	ORPHA:895
HP:0012372	Abnormal eye morphology	6591	SNAI2	ORPHA:2884
HP:0012372	Abnormal eye morphology	80153	EDC3	OMIM:616460
HP:0012372	Abnormal eye morphology	3815	KIT	OMIM:172800
HP:0012372	Abnormal eye morphology	3815	KIT	ORPHA:2884
HP:0012372	Abnormal eye morphology	2591	GALNT3	OMIM:211900
HP:0012372	Abnormal eye morphology	6609	SMPD1	OMIM:607616
HP:0012372	Abnormal eye morphology	8813	DPM1	OMIM:608799
HP:0012372	Abnormal eye morphology	9382	COG1	ORPHA:263508
HP:0012372	Abnormal eye morphology	1806	DPYD	ORPHA:1675
HP:0012372	Abnormal eye morphology	8777	MPDZ	OMIM:615219
HP:0012372	Abnormal eye morphology	406987	MIR204	OMIM:616722
HP:0012372	Abnormal eye morphology	10273	STUB1	ORPHA:412057
HP:0012372	Abnormal eye morphology	84131	CEP78	OMIM:617236
HP:0012372	Abnormal eye morphology	1509	CTSD	OMIM:610127
HP:0012372	Abnormal eye morphology	171023	ASXL1	ORPHA:97297
HP:0012372	Abnormal eye morphology	284217	LAMA1	OMIM:615960
HP:0012372	Abnormal eye morphology	284217	LAMA1	ORPHA:370022
HP:0012372	Abnormal eye morphology	56623	INPP5E	ORPHA:75858
HP:0012372	Abnormal eye morphology	63915	BLOC1S5	OMIM:619172
HP:0012372	Abnormal eye morphology	8943	AP3D1	OMIM:617050
HP:0012372	Abnormal eye morphology	8943	AP3D1	ORPHA:1000
HP:0012372	Abnormal eye morphology	8943	AP3D1	ORPHA:54
HP:0012372	Abnormal eye morphology	3257	HPS1	OMIM:203300
HP:0012372	Abnormal eye morphology	5590	PRKCZ	ORPHA:1606
HP:0012372	Abnormal eye morphology	2563	GABRD	ORPHA:1606
HP:0012372	Abnormal eye morphology	23013	SPEN	ORPHA:1606
HP:0012372	Abnormal eye morphology	8510	MMP23B	ORPHA:1606
HP:0012372	Abnormal eye morphology	7798	LUZP1	ORPHA:1606
HP:0012372	Abnormal eye morphology	6497	SKI	ORPHA:1606
HP:0012372	Abnormal eye morphology	10630	PDPN	ORPHA:1606
HP:0012372	Abnormal eye morphology	3339	HSPG2	ORPHA:1606
HP:0012372	Abnormal eye morphology	10277	UBE4B	ORPHA:1606
HP:0012372	Abnormal eye morphology	8514	KCNAB2	ORPHA:1606
HP:0012372	Abnormal eye morphology	473	RERE	ORPHA:1606
HP:0012372	Abnormal eye morphology	63976	PRDM16	ORPHA:1606
HP:0012372	Abnormal eye morphology	54897	CASZ1	ORPHA:1606
HP:0012372	Abnormal eye morphology	8546	AP3B1	OMIM:608233
HP:0012372	Abnormal eye morphology	4935	GPR143	ORPHA:54
HP:0012372	Abnormal eye morphology	4935	GPR143	OMIM:300500
HP:0012372	Abnormal eye morphology	89781	HPS4	OMIM:614073
HP:0012372	Abnormal eye morphology	11234	HPS5	OMIM:614074
HP:0012372	Abnormal eye morphology	26258	BLOC1S6	OMIM:614171
HP:0012372	Abnormal eye morphology	388552	BLOC1S3	OMIM:614077
HP:0012372	Abnormal eye morphology	79803	HPS6	OMIM:614075
HP:0012372	Abnormal eye morphology	84062	DTNBP1	OMIM:614076
HP:0012372	Abnormal eye morphology	4007	PRICKLE3	OMIM:308905
HP:0012372	Abnormal eye morphology	26137	ZBTB20	OMIM:259050
HP:0012372	Abnormal eye morphology	9445	ITM2B	OMIM:117300
HP:0012372	Abnormal eye morphology	7431	VIM	OMIM:116300
HP:0012372	Abnormal eye morphology	5631	PRPS1	ORPHA:423479
HP:0012372	Abnormal eye morphology	25974	MMACHC	ORPHA:79282
HP:0012372	Abnormal eye morphology	4204	MECP2	OMIM:300055
HP:0012372	Abnormal eye morphology	23394	ADNP	ORPHA:404448
HP:0012372	Abnormal eye morphology	7053	TGM3	OMIM:617251
HP:0012372	Abnormal eye morphology	84188	FAR1	ORPHA:438178
HP:0012372	Abnormal eye morphology	6711	SPTBN1	OMIM:619475
HP:0012372	Abnormal eye morphology	9401	RECQL4	ORPHA:221016
HP:0012372	Abnormal eye morphology	112939	NACC1	ORPHA:500545
HP:0012372	Abnormal eye morphology	221496	LEMD2	OMIM:212500
HP:0012372	Abnormal eye morphology	64682	ANAPC1	OMIM:618625
HP:0012372	Abnormal eye morphology	64682	ANAPC1	ORPHA:221008
HP:0012372	Abnormal eye morphology	81031	SLC2A10	ORPHA:3342
HP:0012372	Abnormal eye morphology	4166	CHST6	OMIM:217800
HP:0012372	Abnormal eye morphology	4070	TACSTD2	OMIM:204870
HP:0012372	Abnormal eye morphology	29914	UBIAD1	OMIM:121800
HP:0012372	Abnormal eye morphology	1308	COL17A1	ORPHA:293381
HP:0012372	Abnormal eye morphology	291	SLC25A4	ORPHA:1369
HP:0012372	Abnormal eye morphology	26007	TKFC	ORPHA:1369
HP:0012372	Abnormal eye morphology	55750	AGK	ORPHA:1369
HP:0012372	Abnormal eye morphology	23404	EXOSC2	OMIM:617763
HP:0012372	Abnormal eye morphology	3859	KRT12	OMIM:122100
HP:0012372	Abnormal eye morphology	4591	TRIM37	OMIM:253250
HP:0012372	Abnormal eye morphology	84627	ZNF469	ORPHA:90354
HP:0012372	Abnormal eye morphology	444	ASPH	OMIM:601552
HP:0012372	Abnormal eye morphology	4016	LOXL1	OMIM:177650
HP:0012372	Abnormal eye morphology	26610	ELP4	OMIM:617141
HP:0012372	Abnormal eye morphology	6297	SALL2	OMIM:216820
HP:0012372	Abnormal eye morphology	9653	HS2ST1	OMIM:619194
HP:0012372	Abnormal eye morphology	3299	HSF4	OMIM:116800
HP:0012372	Abnormal eye morphology	10682	EBP	OMIM:300960
HP:0012372	Abnormal eye morphology	406960	MIR184	OMIM:614303
HP:0012372	Abnormal eye morphology	1285	COL4A3	OMIM:104200
HP:0012372	Abnormal eye morphology	57551	TAOK1	OMIM:619575
HP:0012372	Abnormal eye morphology	1419	CRYGB	OMIM:615188
HP:0012372	Abnormal eye morphology	89910	UBE3B	ORPHA:2707
HP:0012372	Abnormal eye morphology	84168	ANTXR1	OMIM:230740
HP:0012372	Abnormal eye morphology	1312	COMT	ORPHA:567
HP:0012372	Abnormal eye morphology	221037	JMJD1C	ORPHA:567
HP:0012372	Abnormal eye morphology	2812	GP1BB	ORPHA:567
HP:0012372	Abnormal eye morphology	6239	RREB1	ORPHA:567
HP:0012372	Abnormal eye morphology	6899	TBX1	ORPHA:567
HP:0012372	Abnormal eye morphology	7290	HIRA	ORPHA:567
HP:0012372	Abnormal eye morphology	9632	SEC24C	ORPHA:567
HP:0012372	Abnormal eye morphology	7353	UFD1	ORPHA:567
HP:0012372	Abnormal eye morphology	421	ARVCF	ORPHA:567
HP:0012372	Abnormal eye morphology	1822	ATN1	ORPHA:101
HP:0012372	Abnormal eye morphology	3949	LDLR	ORPHA:391665
HP:0012372	Abnormal eye morphology	255738	PCSK9	ORPHA:391665
HP:0012372	Abnormal eye morphology	26119	LDLRAP1	ORPHA:391665
HP:0012372	Abnormal eye morphology	338	APOB	ORPHA:391665
HP:0012372	Abnormal eye morphology	64240	ABCG5	ORPHA:391665
HP:0012372	Abnormal eye morphology	64241	ABCG8	ORPHA:391665
HP:0012372	Abnormal eye morphology	3123	HLA-DRB1	OMIM:181000
HP:0012372	Abnormal eye morphology	493856	CISD2	OMIM:604928
HP:0012372	Abnormal eye morphology	25915	NDUFAF3	ORPHA:2609
HP:0012372	Abnormal eye morphology	51103	NDUFAF1	ORPHA:2609
HP:0012372	Abnormal eye morphology	91942	NDUFAF2	ORPHA:2609
HP:0012372	Abnormal eye morphology	51300	TIMMDC1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4716	NDUFB10	ORPHA:2609
HP:0012372	Abnormal eye morphology	4723	NDUFV1	ORPHA:2609
HP:0012372	Abnormal eye morphology	55572	FOXRED1	ORPHA:2609
HP:0012372	Abnormal eye morphology	284184	NDUFAF8	ORPHA:2609
HP:0012372	Abnormal eye morphology	55863	TMEM126B	ORPHA:2609
HP:0012372	Abnormal eye morphology	4535	MT-ND1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4535	MT-ND1	OMIM:535000
HP:0012372	Abnormal eye morphology	4537	MT-ND3	ORPHA:2609
HP:0012372	Abnormal eye morphology	4729	NDUFV2	ORPHA:2609
HP:0012372	Abnormal eye morphology	4694	NDUFA1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4720	NDUFS2	ORPHA:2609
HP:0012372	Abnormal eye morphology	4724	NDUFS4	ORPHA:2609
HP:0012372	Abnormal eye morphology	4724	NDUFS4	OMIM:252010
HP:0012372	Abnormal eye morphology	4726	NDUFS6	ORPHA:2609
HP:0012372	Abnormal eye morphology	4728	NDUFS8	ORPHA:2609
HP:0012372	Abnormal eye morphology	4722	NDUFS3	ORPHA:2609
HP:0012372	Abnormal eye morphology	79133	NDUFAF5	ORPHA:2609
HP:0012372	Abnormal eye morphology	126328	NDUFA11	ORPHA:2609
HP:0012372	Abnormal eye morphology	4709	NDUFB3	ORPHA:2609
HP:0012372	Abnormal eye morphology	80224	NUBPL	ORPHA:2609
HP:0012372	Abnormal eye morphology	29078	NDUFAF4	ORPHA:2609
HP:0012372	Abnormal eye morphology	374291	NDUFS7	ORPHA:2609
HP:0012372	Abnormal eye morphology	4700	NDUFA6	ORPHA:2609
HP:0012372	Abnormal eye morphology	4536	MT-ND2	ORPHA:2609
HP:0012372	Abnormal eye morphology	4536	MT-ND2	OMIM:535000
HP:0012372	Abnormal eye morphology	4719	NDUFS1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4715	NDUFB9	ORPHA:2609
HP:0012372	Abnormal eye morphology	6452	SH3BP2	OMIM:118400
HP:0012372	Abnormal eye morphology	91574	MTRFR	ORPHA:320375
HP:0012372	Abnormal eye morphology	25828	TXN2	ORPHA:478029
HP:0012372	Abnormal eye morphology	25828	TXN2	OMIM:616811
HP:0012372	Abnormal eye morphology	51079	NDUFA13	OMIM:618249
HP:0012372	Abnormal eye morphology	55717	WDR11	OMIM:620237
HP:0012372	Abnormal eye morphology	686	BTD	ORPHA:79241
HP:0012372	Abnormal eye morphology	4514	MT-CO3	OMIM:535000
HP:0012372	Abnormal eye morphology	4541	MT-ND6	OMIM:535000
HP:0012372	Abnormal eye morphology	4540	MT-ND5	OMIM:535000
HP:0012372	Abnormal eye morphology	4539	MT-ND4L	OMIM:535000
HP:0012372	Abnormal eye morphology	4538	MT-ND4	OMIM:535000
HP:0012372	Abnormal eye morphology	10102	TSFM	OMIM:610505
HP:0012372	Abnormal eye morphology	1969	EPHA2	OMIM:116600
HP:0012372	Abnormal eye morphology	6299	SALL1	ORPHA:857
HP:0012372	Abnormal eye morphology	51339	DACT1	ORPHA:857
HP:0012372	Abnormal eye morphology	10992	SF3B2	OMIM:164210
HP:0012372	Abnormal eye morphology	1410	CRYAB	OMIM:613763
HP:0012372	Abnormal eye morphology	1287	COL4A5	OMIM:301050
HP:0012372	Abnormal eye morphology	2934	GSN	ORPHA:85448
HP:0012372	Abnormal eye morphology	2934	GSN	OMIM:105120
HP:0012372	Abnormal eye morphology	9839	ZEB2	ORPHA:261537
HP:0012372	Abnormal eye morphology	9839	ZEB2	ORPHA:261552
HP:0012372	Abnormal eye morphology	182	JAG1	OMIM:118450
HP:0012372	Abnormal eye morphology	2296	FOXC1	OMIM:601631
HP:0012372	Abnormal eye morphology	146167	SLC38A8	OMIM:609218
HP:0012372	Abnormal eye morphology	5062	PAK2	ORPHA:1571
HP:0012372	Abnormal eye morphology	114902	C1QTNF5	ORPHA:67042
HP:0012372	Abnormal eye morphology	7867	MAPKAPK3	OMIM:617111
HP:0012372	Abnormal eye morphology	8565	YARS1	OMIM:619418
HP:0012372	Abnormal eye morphology	54585	LZTFL1	OMIM:615994
HP:0012372	Abnormal eye morphology	169522	KCNV2	OMIM:610356
HP:0012372	Abnormal eye morphology	5727	PTCH1	OMIM:610828
HP:0012372	Abnormal eye morphology	22827	PUF60	ORPHA:508488
HP:0012372	Abnormal eye morphology	9896	FIG4	ORPHA:3472
HP:0012372	Abnormal eye morphology	55697	VAC14	ORPHA:3472
HP:0012372	Abnormal eye morphology	6949	TCOF1	OMIM:154500
HP:0012372	Abnormal eye morphology	6650	CAPN15	OMIM:619318
HP:0012372	Abnormal eye morphology	63901	FAM111A	ORPHA:93325
HP:0012372	Abnormal eye morphology	64220	STRA6	OMIM:601186
HP:0012372	Abnormal eye morphology	6469	SHH	OMIM:611638
HP:0012372	Abnormal eye morphology	2811	GP1BA	OMIM:258660
HP:0012372	Abnormal eye morphology	4854	NOTCH3	OMIM:125310
HP:0012372	Abnormal eye morphology	4646	MYO6	OMIM:607821
HP:0012372	Abnormal eye morphology	83696	TRAPPC9	ORPHA:352530
HP:0012372	Abnormal eye morphology	10484	SEC23A	OMIM:607812
HP:0012372	Abnormal eye morphology	4595	MUTYH	ORPHA:247798
HP:0012372	Abnormal eye morphology	55733	HHAT	ORPHA:1422
HP:0012372	Abnormal eye morphology	55733	HHAT	OMIM:600092
HP:0012372	Abnormal eye morphology	6786	STIM1	OMIM:612783
HP:0012372	Abnormal eye morphology	84942	WDR73	OMIM:251300
HP:0012372	Abnormal eye morphology	4036	LRP2	OMIM:222448
HP:0012372	Abnormal eye morphology	3708	ITPR1	OMIM:206700
HP:0012372	Abnormal eye morphology	388015	RTL1	ORPHA:96334
HP:0012372	Abnormal eye morphology	8788	DLK1	ORPHA:96334
HP:0012372	Abnormal eye morphology	55384	MEG3	ORPHA:96334
HP:0012372	Abnormal eye morphology	5309	PITX3	OMIM:107250
HP:0012372	Abnormal eye morphology	3166	HMX1	OMIM:612109
HP:0012372	Abnormal eye morphology	23389	MED13L	ORPHA:369891
HP:0012372	Abnormal eye morphology	55714	TENM3	OMIM:615145
HP:0012372	Abnormal eye morphology	875	CBS	ORPHA:394
HP:0012372	Abnormal eye morphology	23568	ARL2BP	ORPHA:791
HP:0012372	Abnormal eye morphology	54806	AHI1	ORPHA:791
HP:0012372	Abnormal eye morphology	4751	NEK2	ORPHA:791
HP:0012372	Abnormal eye morphology	8100	IFT88	ORPHA:791
HP:0012372	Abnormal eye morphology	762	CA4	ORPHA:791
HP:0012372	Abnormal eye morphology	138050	HGSNAT	ORPHA:791
HP:0012372	Abnormal eye morphology	196	AHR	ORPHA:791
HP:0012372	Abnormal eye morphology	26121	PRPF31	ORPHA:791
HP:0012372	Abnormal eye morphology	583	BBS2	ORPHA:791
HP:0012372	Abnormal eye morphology	10461	MERTK	ORPHA:791
HP:0012372	Abnormal eye morphology	57709	SLC7A14	ORPHA:791
HP:0012372	Abnormal eye morphology	23370	ARHGEF18	ORPHA:791
HP:0012372	Abnormal eye morphology	5949	RBP3	ORPHA:791
HP:0012372	Abnormal eye morphology	6100	RP9	ORPHA:791
HP:0012372	Abnormal eye morphology	10002	NR2E3	ORPHA:791
HP:0012372	Abnormal eye morphology	84140	FAM161A	ORPHA:791
HP:0012372	Abnormal eye morphology	2979	GUCA1B	ORPHA:791
HP:0012372	Abnormal eye morphology	1258	CNGB1	ORPHA:791
HP:0012372	Abnormal eye morphology	9129	PRPF3	ORPHA:791
HP:0012372	Abnormal eye morphology	55975	KLHL7	ORPHA:791
HP:0012372	Abnormal eye morphology	3617	IMPG1	ORPHA:791
HP:0012372	Abnormal eye morphology	6102	RP2	ORPHA:791
HP:0012372	Abnormal eye morphology	55857	KIZ	ORPHA:791
HP:0012372	Abnormal eye morphology	6295	SAG	ORPHA:791
HP:0012372	Abnormal eye morphology	6295	SAG	ORPHA:215
HP:0012372	Abnormal eye morphology	79947	DHDDS	ORPHA:791
HP:0012372	Abnormal eye morphology	6873	TAF2	ORPHA:397951
HP:0012372	Abnormal eye morphology	63916	ELMO2	ORPHA:3019
HP:0012372	Abnormal eye morphology	5956	OPN1LW	ORPHA:1872
HP:0012372	Abnormal eye morphology	5956	OPN1LW	ORPHA:16
HP:0012372	Abnormal eye morphology	778	CACNA1F	ORPHA:1872
HP:0012372	Abnormal eye morphology	778	CACNA1F	ORPHA:215
HP:0012372	Abnormal eye morphology	8754	ADAM9	ORPHA:1872
HP:0012372	Abnormal eye morphology	22999	RIMS1	ORPHA:1872
HP:0012372	Abnormal eye morphology	128338	DRAM2	ORPHA:1872
HP:0012372	Abnormal eye morphology	2652	OPN1MW	ORPHA:1872
HP:0012372	Abnormal eye morphology	2652	OPN1MW	ORPHA:16
HP:0012372	Abnormal eye morphology	9094	UNC119	ORPHA:1872
HP:0012372	Abnormal eye morphology	93589	CACNA2D4	ORPHA:1872
HP:0012372	Abnormal eye morphology	93589	CACNA2D4	ORPHA:215
HP:0012372	Abnormal eye morphology	282809	POC1B	ORPHA:1872
HP:0012372	Abnormal eye morphology	83394	PITPNM3	ORPHA:1872
HP:0012372	Abnormal eye morphology	23093	TTLL5	ORPHA:1872
HP:0012372	Abnormal eye morphology	9364	RAB28	ORPHA:1872
HP:0012372	Abnormal eye morphology	22880	MORC2	ORPHA:466768
HP:0012372	Abnormal eye morphology	1908	EDN3	ORPHA:897
HP:0012372	Abnormal eye morphology	4286	MITF	ORPHA:897
HP:0012372	Abnormal eye morphology	1910	EDNRB	ORPHA:897
HP:0012372	Abnormal eye morphology	6663	SOX10	ORPHA:897
HP:0012372	Abnormal eye morphology	65082	VPS33A	ORPHA:505248
HP:0012372	Abnormal eye morphology	26022	TMEM98	ORPHA:35612
HP:0012372	Abnormal eye morphology	6657	SOX2	ORPHA:35612
HP:0012372	Abnormal eye morphology	220	ALDH1A3	ORPHA:35612
HP:0012372	Abnormal eye morphology	646960	PRSS56	ORPHA:35612
HP:0012372	Abnormal eye morphology	30062	RAX	ORPHA:35612
HP:0012372	Abnormal eye morphology	5015	OTX2	ORPHA:35612
HP:0012372	Abnormal eye morphology	4990	SIX6	ORPHA:35612
HP:0012372	Abnormal eye morphology	6023	RMRP	ORPHA:175
HP:0012372	Abnormal eye morphology	2068	ERCC2	ORPHA:1466
HP:0012372	Abnormal eye morphology	2067	ERCC1	ORPHA:1466
HP:0012372	Abnormal eye morphology	2074	ERCC6	ORPHA:1466
HP:0012372	Abnormal eye morphology	2073	ERCC5	ORPHA:1466
HP:0012372	Abnormal eye morphology	1130	LYST	ORPHA:167
HP:0012372	Abnormal eye morphology	4547	MTTP	ORPHA:14
HP:0012372	Abnormal eye morphology	7274	TTPA	ORPHA:96
HP:0012372	Abnormal eye morphology	54476	RNF216	ORPHA:1173
HP:0012372	Abnormal eye morphology	10908	PNPLA6	ORPHA:1173
HP:0012372	Abnormal eye morphology	2202	EFEMP1	ORPHA:75376
HP:0012372	Abnormal eye morphology	3075	CFH	ORPHA:75376
HP:0012372	Abnormal eye morphology	3426	CFI	ORPHA:75376
HP:0012372	Abnormal eye morphology	55112	DYNC2I1	ORPHA:474
HP:0012372	Abnormal eye morphology	153241	CEP120	ORPHA:474
HP:0012372	Abnormal eye morphology	57560	IFT80	ORPHA:474
HP:0012372	Abnormal eye morphology	51626	DYNC2LI1	ORPHA:474
HP:0012372	Abnormal eye morphology	79659	DYNC2H1	ORPHA:474
HP:0012372	Abnormal eye morphology	89891	DYNC2I2	ORPHA:474
HP:0012372	Abnormal eye morphology	79809	TTC21B	ORPHA:474
HP:0012372	Abnormal eye morphology	1499	CTNNB1	ORPHA:873
HP:0012372	Abnormal eye morphology	324	APC	ORPHA:873
HP:0012372	Abnormal eye morphology	3769	KCNJ13	ORPHA:65
HP:0012372	Abnormal eye morphology	343035	RD3	ORPHA:65
HP:0012372	Abnormal eye morphology	80184	CEP290	ORPHA:65
HP:0012372	Abnormal eye morphology	80184	CEP290	ORPHA:3156
HP:0012372	Abnormal eye morphology	10383	TUBB4B	ORPHA:65
HP:0012372	Abnormal eye morphology	9657	IQCB1	ORPHA:65
HP:0012372	Abnormal eye morphology	9657	IQCB1	ORPHA:3156
HP:0012372	Abnormal eye morphology	392255	GDF6	ORPHA:65
HP:0012372	Abnormal eye morphology	6197	RPS6KA3	ORPHA:192
HP:0012372	Abnormal eye morphology	157680	VPS13B	ORPHA:193
HP:0012372	Abnormal eye morphology	7486	WRN	ORPHA:902
HP:0012372	Abnormal eye morphology	63895	PIEZO2	OMIM:108145
HP:0012372	Abnormal eye morphology	5184	PEPD	ORPHA:742
HP:0012372	Abnormal eye morphology	5728	PTEN	ORPHA:744
HP:0012372	Abnormal eye morphology	207	AKT1	ORPHA:744
HP:0012372	Abnormal eye morphology	4982	TNFRSF11B	ORPHA:2801
HP:0012372	Abnormal eye morphology	8792	TNFRSF11A	ORPHA:2801
HP:0012372	Abnormal eye morphology	1356	CP	ORPHA:48818
HP:0012372	Abnormal eye morphology	4308	TRPM1	ORPHA:215
HP:0012372	Abnormal eye morphology	57010	CABP4	ORPHA:215
HP:0012372	Abnormal eye morphology	345193	LRIT3	ORPHA:215
HP:0012372	Abnormal eye morphology	2916	GRM6	ORPHA:215
HP:0012372	Abnormal eye morphology	440435	GPR179	ORPHA:215
HP:0012372	Abnormal eye morphology	6011	GRK1	ORPHA:215
HP:0012372	Abnormal eye morphology	2784	GNB3	ORPHA:215
HP:0012372	Abnormal eye morphology	2779	GNAT1	ORPHA:215
HP:0012372	Abnormal eye morphology	60506	NYX	ORPHA:215
HP:0012372	Abnormal eye morphology	5264	PHYH	ORPHA:773
HP:0012372	Abnormal eye morphology	5191	PEX7	ORPHA:773
HP:0012372	Abnormal eye morphology	149461	CLDN19	ORPHA:2196
HP:0012372	Abnormal eye morphology	85378	TUBGCP6	ORPHA:2518
HP:0012372	Abnormal eye morphology	85378	TUBGCP6	OMIM:251270
HP:0012372	Abnormal eye morphology	27229	TUBGCP4	ORPHA:2518
HP:0012372	Abnormal eye morphology	10733	PLK4	ORPHA:2518
HP:0012372	Abnormal eye morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0012372	Abnormal eye morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012372	Abnormal eye morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012372	Abnormal eye morphology	22931	RAB18	ORPHA:2510
HP:0012372	Abnormal eye morphology	128637	TBC1D20	ORPHA:2510
HP:0012372	Abnormal eye morphology	201163	FLCN	ORPHA:122
HP:0012372	Abnormal eye morphology	4509	MT-ATP8	ORPHA:480
HP:0012372	Abnormal eye morphology	4567	MT-TL1	ORPHA:480
HP:0012372	Abnormal eye morphology	50484	RRM2B	ORPHA:480
HP:0012372	Abnormal eye morphology	9990	SLC12A6	ORPHA:1496
HP:0012372	Abnormal eye morphology	57724	EPG5	ORPHA:1493
HP:0012372	Abnormal eye morphology	26146	TRAF3IP1	ORPHA:3156
HP:0012372	Abnormal eye morphology	10806	SDCCAG8	ORPHA:3156
HP:0012372	Abnormal eye morphology	27130	INVS	ORPHA:3156
HP:0012372	Abnormal eye morphology	4867	NPHP1	ORPHA:3156
HP:0012372	Abnormal eye morphology	261734	NPHP4	ORPHA:3156
HP:0012372	Abnormal eye morphology	27031	NPHP3	ORPHA:3156
HP:0012372	Abnormal eye morphology	22897	CEP164	ORPHA:3156
HP:0012372	Abnormal eye morphology	7299	TYR	ORPHA:79434
HP:0012372	Abnormal eye morphology	51151	SLC45A2	ORPHA:79435
HP:0012372	Abnormal eye morphology	1001	CDH3	ORPHA:1897
HP:0012372	Abnormal eye morphology	4796	TONSL	ORPHA:93357
HP:0012372	Abnormal eye morphology	1634	DCN	OMIM:610048
HP:0012372	Abnormal eye morphology	8314	BAP1	OMIM:614327
HP:0012372	Abnormal eye morphology	8314	BAP1	OMIM:606661
HP:0012372	Abnormal eye morphology	8930	MBD4	OMIM:619975
HP:0012372	Abnormal eye morphology	8930	MBD4	OMIM:606660
HP:0012372	Abnormal eye morphology	6794	STK11	OMIM:155600
HP:0012372	Abnormal eye morphology	673	BRAF	OMIM:155600
HP:0012372	Abnormal eye morphology	8626	TP63	ORPHA:69085
HP:0012372	Abnormal eye morphology	4140	MARK3	OMIM:618283
HP:0012372	Abnormal eye morphology	7042	TGFB2	OMIM:614816
HP:0012372	Abnormal eye morphology	11107	PRDM5	OMIM:614170
HP:0012372	Abnormal eye morphology	7840	ALMS1	ORPHA:64
HP:0012372	Abnormal eye morphology	285440	CYP4V2	ORPHA:41751
HP:0012372	Abnormal eye morphology	6785	ELOVL4	ORPHA:827
HP:0012372	Abnormal eye morphology	6247	RS1	OMIM:312700
HP:0012372	Abnormal eye morphology	1406	CRX	OMIM:120970
HP:0012372	Abnormal eye morphology	224	ALDH3A2	OMIM:270200
HP:0012372	Abnormal eye morphology	83552	MFRP	OMIM:611040
HP:0012372	Abnormal eye morphology	7078	TIMP3	ORPHA:59181
HP:0012372	Abnormal eye morphology	51095	TRNT1	OMIM:616959
HP:0012372	Abnormal eye morphology	1462	VCAN	OMIM:143200
HP:0012372	Abnormal eye morphology	79955	PDZD7	ORPHA:231178
HP:0012372	Abnormal eye morphology	4647	MYO7A	ORPHA:231178
HP:0012372	Abnormal eye morphology	4647	MYO7A	ORPHA:231169
HP:0012372	Abnormal eye morphology	25861	WHRN	ORPHA:231178
HP:0012372	Abnormal eye morphology	84059	ADGRV1	ORPHA:231178
HP:0012372	Abnormal eye morphology	7681	MKRN3	OMIM:176270
HP:0012372	Abnormal eye morphology	3653	IPW	OMIM:176270
HP:0012372	Abnormal eye morphology	54551	MAGEL2	OMIM:176270
HP:0012372	Abnormal eye morphology	54551	MAGEL2	ORPHA:98754
HP:0012372	Abnormal eye morphology	54551	MAGEL2	ORPHA:177904
HP:0012372	Abnormal eye morphology	54551	MAGEL2	ORPHA:177901
HP:0012372	Abnormal eye morphology	54551	MAGEL2	ORPHA:177910
HP:0012372	Abnormal eye morphology	791114	PWRN1	OMIM:176270
HP:0012372	Abnormal eye morphology	100033413	SNORD116-1	OMIM:176270
HP:0012372	Abnormal eye morphology	8924	HERC2	OMIM:176270
HP:0012372	Abnormal eye morphology	145624	PWAR1	OMIM:176270
HP:0012372	Abnormal eye morphology	23742	NPAP1	OMIM:176270
HP:0012372	Abnormal eye morphology	338433	SNORD115-1	OMIM:176270
HP:0012372	Abnormal eye morphology	4575	MT-TS2	ORPHA:231183
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:98754
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:177904
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:177901
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:177910
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:177907
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:411515
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:98754
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177904
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177901
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177910
HP:0012372	Abnormal eye morphology	7337	UBE3A	ORPHA:98794
HP:0012372	Abnormal eye morphology	7337	UBE3A	ORPHA:98795
HP:0012372	Abnormal eye morphology	7337	UBE3A	ORPHA:411511
HP:0012372	Abnormal eye morphology	7337	UBE3A	ORPHA:411515
HP:0012372	Abnormal eye morphology	284058	KANSL1	OMIM:610443
HP:0012372	Abnormal eye morphology	10083	USH1C	ORPHA:231169
HP:0012372	Abnormal eye morphology	124590	USH1G	ORPHA:231169
HP:0012372	Abnormal eye morphology	83715	ESPN	ORPHA:231169
HP:0012372	Abnormal eye morphology	10518	CIB2	ORPHA:231169
HP:0012372	Abnormal eye morphology	65217	PCDH15	ORPHA:231169
HP:0012372	Abnormal eye morphology	57194	ATP10A	ORPHA:411515
HP:0012372	Abnormal eye morphology	5873	RAB27A	ORPHA:79477
HP:0012372	Abnormal eye morphology	79083	MLPH	ORPHA:79478
HP:0012372	Abnormal eye morphology	7360	UGP2	OMIM:618744
HP:0012372	Abnormal eye morphology	92154	MTSS2	OMIM:620086
HP:0012372	Abnormal eye morphology	1638	DCT	OMIM:619165
HP:0012372	Abnormal eye morphology	60386	SLC25A19	OMIM:607196
HP:0012372	Abnormal eye morphology	93426	SYCE1	OMIM:616947
HP:0012372	Abnormal eye morphology	4556	MT-TE	ORPHA:225
HP:0012372	Abnormal eye morphology	4566	MT-TK	ORPHA:225
HP:0012372	Abnormal eye morphology	4644	MYO5A	ORPHA:33445
HP:0012372	Abnormal eye morphology	92002	CCNQ	ORPHA:140952
HP:0012372	Abnormal eye morphology	129880	BBS5	OMIM:615983
HP:0012372	Abnormal eye morphology	6309	SC5D	ORPHA:46059
HP:0012372	Abnormal eye morphology	6309	SC5D	OMIM:607330
HP:0012372	Abnormal eye morphology	59341	TRPV4	OMIM:184095
HP:0012372	Abnormal eye morphology	2588	GALNS	OMIM:253000
HP:0012372	Abnormal eye morphology	335	APOA1	ORPHA:425
HP:0012372	Abnormal eye morphology	6720	SREBF1	OMIM:158310
HP:0012372	Abnormal eye morphology	2312	FLG	ORPHA:461
HP:0012372	Abnormal eye morphology	51715	RAB23	OMIM:201000
HP:0012372	Abnormal eye morphology	100506658	OCLN	OMIM:251290
HP:0012372	Abnormal eye morphology	79158	GNPTAB	OMIM:252500
HP:0012372	Abnormal eye morphology	79158	GNPTAB	OMIM:252600
HP:0012372	Abnormal eye morphology	84572	GNPTG	OMIM:252605
HP:0012372	Abnormal eye morphology	4668	NAGA	ORPHA:79280
HP:0012372	Abnormal eye morphology	3977	LIFR	OMIM:601559
HP:0012372	Abnormal eye morphology	338917	VSX2	OMIM:610093
HP:0012372	Abnormal eye morphology	4914	NTRK1	OMIM:256800
HP:0012372	Abnormal eye morphology	6399	TRAPPC2	OMIM:313400
HP:0012372	Abnormal eye morphology	7507	XPA	ORPHA:910
HP:0012372	Abnormal eye morphology	2071	ERCC3	ORPHA:910
HP:0012372	Abnormal eye morphology	7508	XPC	ORPHA:910
HP:0012372	Abnormal eye morphology	1643	DDB2	ORPHA:910
HP:0012372	Abnormal eye morphology	2658	GDF2	ORPHA:774
HP:0012372	Abnormal eye morphology	94	ACVRL1	ORPHA:774
HP:0012372	Abnormal eye morphology	4089	SMAD4	ORPHA:774
HP:0012372	Abnormal eye morphology	2022	ENG	ORPHA:774
HP:0012372	Abnormal eye morphology	2483	FRG1	OMIM:158900
HP:0012372	Abnormal eye morphology	29072	SETD2	OMIM:620157
HP:0012372	Abnormal eye morphology	29072	SETD2	OMIM:620155
HP:0012372	Abnormal eye morphology	79991	STN1	OMIM:617341
HP:0012372	Abnormal eye morphology	5111	PCNA	ORPHA:438134
HP:0012372	Abnormal eye morphology	4512	MT-CO1	ORPHA:104
HP:0012372	Abnormal eye morphology	3192	HNRNPU	ORPHA:238769
HP:0012372	Abnormal eye morphology	79644	SRD5A3	ORPHA:324737
HP:0012372	Abnormal eye morphology	9342	SNAP29	OMIM:609528
HP:0012372	Abnormal eye morphology	7025	NR2F1	ORPHA:401777
HP:0012372	Abnormal eye morphology	54802	TRIT1	OMIM:617873
HP:0012372	Abnormal eye morphology	2187	FANCB	OMIM:300514
HP:0012372	Abnormal eye morphology	55770	EXOC2	OMIM:619306
HP:0012372	Abnormal eye morphology	5361	PLXNA1	OMIM:619955
HP:0012372	Abnormal eye morphology	23259	DDHD2	ORPHA:320380
HP:0012372	Abnormal eye morphology	9573	GDF3	OMIM:613703
HP:0012372	Abnormal eye morphology	4784	NFIX	ORPHA:420179
HP:0012372	Abnormal eye morphology	415	ARSL	ORPHA:79345
HP:0012372	Abnormal eye morphology	4750	NEK1	ORPHA:2751
HP:0012372	Abnormal eye morphology	1298	COL9A2	OMIM:614284
HP:0012372	Abnormal eye morphology	1298	COL9A2	ORPHA:250984
HP:0012372	Abnormal eye morphology	1299	COL9A3	ORPHA:250984
HP:0012372	Abnormal eye morphology	84695	LOXL3	ORPHA:250984
HP:0012372	Abnormal eye morphology	3982	LIM2	OMIM:615277
HP:0012372	Abnormal eye morphology	64132	XYLT2	OMIM:605822
HP:0012372	Abnormal eye morphology	84265	POLR3GL	OMIM:619234
HP:0012372	Abnormal eye morphology	83932	SPRTN	OMIM:616200
HP:0012372	Abnormal eye morphology	170692	ADAMTS18	OMIM:615458
HP:0012372	Abnormal eye morphology	128866	CHMP4B	OMIM:605387
HP:0012372	Abnormal eye morphology	7555	CNBP	OMIM:602668
HP:0012372	Abnormal eye morphology	146862	UNC45B	OMIM:616279
HP:0012372	Abnormal eye morphology	80207	OPA3	ORPHA:67036
HP:0012372	Abnormal eye morphology	889	KRIT1	OMIM:116860
HP:0012372	Abnormal eye morphology	29894	CPSF1	OMIM:618827
HP:0012372	Abnormal eye morphology	80232	WDR26	ORPHA:513456
HP:0012372	Abnormal eye morphology	2200	FBN1	OMIM:154700
HP:0012372	Abnormal eye morphology	4043	LRPAP1	OMIM:615431
HP:0012372	Abnormal eye morphology	79639	TMEM53	OMIM:619727
HP:0012372	Abnormal eye morphology	84196	USP48	ORPHA:96253
HP:0012372	Abnormal eye morphology	7157	TP53	ORPHA:96253
HP:0012372	Abnormal eye morphology	9101	USP8	ORPHA:96253
HP:0012372	Abnormal eye morphology	64072	CDH23	ORPHA:96253
HP:0012372	Abnormal eye morphology	2908	NR3C1	ORPHA:96253
HP:0012372	Abnormal eye morphology	546	ATRX	ORPHA:96253
HP:0012372	Abnormal eye morphology	7040	TGFB1	ORPHA:1328
HP:0012372	Abnormal eye morphology	7040	TGFB1	OMIM:131300
HP:0012372	Abnormal eye morphology	760	CA2	OMIM:259730
HP:0012372	Abnormal eye morphology	29887	SNX10	ORPHA:667
HP:0012372	Abnormal eye morphology	8600	TNFSF11	ORPHA:667
HP:0012372	Abnormal eye morphology	64127	NOD2	OMIM:186580
HP:0012372	Abnormal eye morphology	1497	CTNS	OMIM:219800
HP:0012372	Abnormal eye morphology	1497	CTNS	OMIM:219900
HP:0012372	Abnormal eye morphology	4683	NBN	OMIM:251260
HP:0012372	Abnormal eye morphology	1182	CLCN3	OMIM:619517
HP:0012372	Abnormal eye morphology	4329	ALDH6A1	OMIM:614105
HP:0012372	Abnormal eye morphology	23761	PISD	OMIM:618889
HP:0012372	Abnormal eye morphology	4508	MT-ATP6	ORPHA:644
HP:0012372	Abnormal eye morphology	4508	MT-ATP6	OMIM:551500
HP:0012372	Abnormal eye morphology	5428	POLG	OMIM:607459
HP:0012372	Abnormal eye morphology	56652	TWNK	OMIM:607459
HP:0012372	Abnormal eye morphology	27072	VPS41	OMIM:619389
HP:0012372	Abnormal eye morphology	51098	IFT52	OMIM:617102
HP:0012372	Abnormal eye morphology	8449	DHX16	OMIM:618733
HP:0012372	Abnormal eye morphology	1161	ERCC8	OMIM:216400
HP:0012372	Abnormal eye morphology	57167	SALL4	ORPHA:233
HP:0012372	Abnormal eye morphology	1123	CHN1	ORPHA:233
HP:0012372	Abnormal eye morphology	4627	MYH9	ORPHA:182050
HP:0012372	Abnormal eye morphology	4507	MTAP	OMIM:112250
HP:0012372	Abnormal eye morphology	5573	PRKAR1A	OMIM:160980
HP:0012372	Abnormal eye morphology	3081	HGD	OMIM:203500
HP:0012372	Abnormal eye morphology	6775	STAT4	ORPHA:85410
HP:0012372	Abnormal eye morphology	3560	IL2RB	ORPHA:85410
HP:0012372	Abnormal eye morphology	79722	ANKRD55	ORPHA:85410
HP:0012372	Abnormal eye morphology	26191	PTPN22	ORPHA:85410
HP:0012372	Abnormal eye morphology	919	CD247	ORPHA:85410
HP:0012372	Abnormal eye morphology	3559	IL2RA	ORPHA:85410
HP:0012372	Abnormal eye morphology	5771	PTPN2	ORPHA:85410
HP:0012372	Abnormal eye morphology	8419	BFSP2	OMIM:611597
HP:0012372	Abnormal eye morphology	91851	CHRDL1	OMIM:309300
HP:0012372	Abnormal eye morphology	7276	TTR	OMIM:105210
HP:0012372	Abnormal eye morphology	7399	USH2A	OMIM:613809
HP:0012372	Abnormal eye morphology	7401	CLRN1	OMIM:614180
HP:0012372	Abnormal eye morphology	10594	PRPF8	OMIM:600059
HP:0012372	Abnormal eye morphology	25794	FSCN2	OMIM:607921
HP:0012372	Abnormal eye morphology	1121	CHM	OMIM:303100
HP:0012372	Abnormal eye morphology	4117	MAK	OMIM:614181
HP:0012372	Abnormal eye morphology	9785	DHX38	OMIM:618220
HP:0012372	Abnormal eye morphology	54903	MKS1	OMIM:615990
HP:0012372	Abnormal eye morphology	94137	RP1L1	OMIM:618826
HP:0012372	Abnormal eye morphology	2677	GGCX	ORPHA:436274
HP:0012372	Abnormal eye morphology	3035	HARS1	OMIM:614504
HP:0012372	Abnormal eye morphology	6010	RHO	OMIM:613731
HP:0012372	Abnormal eye morphology	6010	RHO	ORPHA:52427
HP:0012372	Abnormal eye morphology	5145	PDE6A	OMIM:613810
HP:0012372	Abnormal eye morphology	84839	RAX2	OMIM:620102
HP:0012372	Abnormal eye morphology	130557	ZNF513	OMIM:613617
HP:0012372	Abnormal eye morphology	25914	RTTN	ORPHA:468631
HP:0012372	Abnormal eye morphology	6094	ROM1	OMIM:608133
HP:0012372	Abnormal eye morphology	80781	COL18A1	OMIM:267750
HP:0012372	Abnormal eye morphology	49855	SCAPER	OMIM:618195
HP:0012372	Abnormal eye morphology	6101	RP1	OMIM:180100
HP:0012372	Abnormal eye morphology	5959	RDH5	ORPHA:52427
HP:0012372	Abnormal eye morphology	9227	LRAT	ORPHA:364055
HP:0012372	Abnormal eye morphology	55812	SPATA7	ORPHA:364055
HP:0012372	Abnormal eye morphology	6121	RPE65	ORPHA:364055
HP:0012372	Abnormal eye morphology	6121	RPE65	OMIM:204100
HP:0012372	Abnormal eye morphology	6121	RPE65	OMIM:613794
HP:0012372	Abnormal eye morphology	167691	LCA5	ORPHA:364055
HP:0012372	Abnormal eye morphology	9742	IFT140	OMIM:617781
HP:0012372	Abnormal eye morphology	9742	IFT140	OMIM:266920
HP:0012372	Abnormal eye morphology	64801	ARV1	OMIM:617020
HP:0012372	Abnormal eye morphology	3098	HK1	OMIM:617460
HP:0012372	Abnormal eye morphology	8842	PROM1	OMIM:612095
HP:0012372	Abnormal eye morphology	92211	CDHR1	OMIM:613660
HP:0012372	Abnormal eye morphology	5148	PDE6G	OMIM:613582
HP:0012372	Abnormal eye morphology	60509	AGBL5	OMIM:617023
HP:0012372	Abnormal eye morphology	123016	TTC8	OMIM:613464
HP:0012372	Abnormal eye morphology	3420	IDH3B	OMIM:612572
HP:0012372	Abnormal eye morphology	24148	PRPF6	OMIM:613983
HP:0012372	Abnormal eye morphology	92840	REEP6	OMIM:617304
HP:0012372	Abnormal eye morphology	9128	PRPF4	OMIM:615922
HP:0012372	Abnormal eye morphology	3419	IDH3A	OMIM:619007
HP:0012372	Abnormal eye morphology	85015	USP45	OMIM:618513
HP:0012372	Abnormal eye morphology	768206	PRCD	OMIM:610599
HP:0012372	Abnormal eye morphology	388939	PCARE	OMIM:613428
HP:0012372	Abnormal eye morphology	23020	SNRNP200	OMIM:610359
HP:0012372	Abnormal eye morphology	57096	RPGRIP1	OMIM:613826
HP:0012372	Abnormal eye morphology	6742	SSBP1	OMIM:165510
HP:0012372	Abnormal eye morphology	346007	EYS	OMIM:602772
HP:0012372	Abnormal eye morphology	3105	HLA-A	ORPHA:179
HP:0012372	Abnormal eye morphology	10210	TOPORS	OMIM:609923
HP:0012372	Abnormal eye morphology	22926	ATF6	ORPHA:49382
HP:0012372	Abnormal eye morphology	5146	PDE6C	ORPHA:49382
HP:0012372	Abnormal eye morphology	6103	RPGR	ORPHA:49382
HP:0012372	Abnormal eye morphology	5149	PDE6H	ORPHA:49382
HP:0012372	Abnormal eye morphology	2780	GNAT2	ORPHA:49382
HP:0012372	Abnormal eye morphology	1261	CNGA3	ORPHA:49382
HP:0012372	Abnormal eye morphology	54714	CNGB3	ORPHA:49382
HP:0012372	Abnormal eye morphology	24	ABCA4	OMIM:604116
HP:0012372	Abnormal eye morphology	24	ABCA4	OMIM:601718
HP:0012372	Abnormal eye morphology	83723	TLCD3B	OMIM:619531
HP:0012372	Abnormal eye morphology	112752	IFT43	OMIM:617871
HP:0012372	Abnormal eye morphology	7275	TUB	OMIM:616188
HP:0012372	Abnormal eye morphology	64218	SEMA4A	OMIM:610283
HP:0012372	Abnormal eye morphology	79797	ZNF408	OMIM:616469
HP:0012372	Abnormal eye morphology	4901	NRL	OMIM:613750
HP:0012372	Abnormal eye morphology	9187	SLC24A1	OMIM:613830
HP:0012372	Abnormal eye morphology	1259	CNGA1	OMIM:613756
HP:0012372	Abnormal eye morphology	51109	RDH11	OMIM:616108
HP:0012372	Abnormal eye morphology	84100	ARL6	OMIM:209900
HP:0012372	Abnormal eye morphology	79140	CCDC28B	OMIM:209900
HP:0012372	Abnormal eye morphology	582	BBS1	OMIM:209900
HP:0012372	Abnormal eye morphology	26504	CNNM4	OMIM:217080
HP:0012372	Abnormal eye morphology	6533	SLC6A6	OMIM:145350
HP:0012372	Abnormal eye morphology	64802	NMNAT1	OMIM:608553
HP:0012372	Abnormal eye morphology	64802	NMNAT1	OMIM:619260
HP:0012372	Abnormal eye morphology	2072	ERCC4	OMIM:610965
HP:0012372	Abnormal eye morphology	23746	AIPL1	OMIM:604393
HP:0012372	Abnormal eye morphology	3614	IMPDH1	OMIM:180105
HP:0012372	Abnormal eye morphology	403	ARL3	OMIM:618173
HP:0012372	Abnormal eye morphology	23418	CRB1	OMIM:600105
HP:0012372	Abnormal eye morphology	23155	CLCC1	OMIM:609913
HP:0012372	Abnormal eye morphology	116150	NUS1	OMIM:617082
HP:0012372	Abnormal eye morphology	26160	IFT172	OMIM:616394
HP:0012372	Abnormal eye morphology	8481	OFD1	OMIM:300424
HP:0012372	Abnormal eye morphology	2257	FGF12	OMIM:617166
HP:0012372	Abnormal eye morphology	57728	WDR19	OMIM:614376
HP:0012372	Abnormal eye morphology	375298	CERKL	OMIM:608380
HP:0012372	Abnormal eye morphology	4598	MVK	OMIM:610377
HP:0012372	Abnormal eye morphology	27241	BBS9	OMIM:615986
HP:0012372	Abnormal eye morphology	57670	KIAA1549	OMIM:618613
HP:0012372	Abnormal eye morphology	7287	TULP1	OMIM:613843
HP:0012372	Abnormal eye morphology	5995	RGR	OMIM:613769
HP:0012372	Abnormal eye morphology	5158	PDE6B	OMIM:613801
HP:0012372	Abnormal eye morphology	145226	RDH12	OMIM:612712
HP:0012372	Abnormal eye morphology	28982	FLVCR1	OMIM:609033
HP:0012372	Abnormal eye morphology	59	ACTA2	OMIM:613834
HP:0012372	Abnormal eye morphology	11235	PDCD10	ORPHA:221061
HP:0012372	Abnormal eye morphology	83605	CCM2	ORPHA:221061
HP:0012372	Abnormal eye morphology	374654	KIF7	OMIM:200990
HP:0012372	Abnormal eye morphology	5077	PAX3	OMIM:193500
HP:0012372	Abnormal eye morphology	10166	SLC25A15	OMIM:238970
HP:0012372	Abnormal eye morphology	80169	CTC1	OMIM:612199
HP:0012372	Abnormal eye morphology	26277	TINF2	OMIM:268130
HP:0012372	Abnormal eye morphology	26277	TINF2	OMIM:613990
HP:0012372	Abnormal eye morphology	5624	PROC	OMIM:612304
HP:0012372	Abnormal eye morphology	5925	RB1	OMIM:180200
HP:0012372	Abnormal eye morphology	23137	SMC5	OMIM:620185
HP:0012372	Abnormal eye morphology	4653	MYOC	OMIM:137750
HP:0012372	Abnormal eye morphology	1593	CYP27A1	ORPHA:909
HP:0012372	Abnormal eye morphology	26278	SACS	ORPHA:98
HP:0012372	Abnormal eye morphology	26278	SACS	OMIM:270550
HP:0012372	Abnormal eye morphology	4771	NF2	OMIM:101000
HP:0012372	Abnormal eye morphology	5456	POU3F4	ORPHA:1435
HP:0012372	Abnormal eye morphology	7003	TEAD1	OMIM:108985
HP:0012372	Abnormal eye morphology	8518	ELP1	ORPHA:1764
HP:0012372	Abnormal eye morphology	23556	PIGN	ORPHA:2059
HP:0012372	Abnormal eye morphology	5832	ALDH18A1	OMIM:616603
HP:0012372	Abnormal eye morphology	5832	ALDH18A1	ORPHA:90348
HP:0012372	Abnormal eye morphology	145173	B3GLCT	ORPHA:709
HP:0012372	Abnormal eye morphology	4693	NDP	OMIM:310600
HP:0012372	Abnormal eye morphology	4693	NDP	ORPHA:91495
HP:0012372	Abnormal eye morphology	4693	NDP	ORPHA:649
HP:0012372	Abnormal eye morphology	220202	ATOH7	ORPHA:91495
HP:0012372	Abnormal eye morphology	220202	ATOH7	OMIM:221900
HP:0012372	Abnormal eye morphology	8322	FZD4	ORPHA:91495
HP:0012372	Abnormal eye morphology	80144	FRAS1	OMIM:219000
HP:0012372	Abnormal eye morphology	126792	B3GALT6	OMIM:609465
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:93399
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:812
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:93400
HP:0012372	Abnormal eye morphology	411	ARSB	OMIM:253200
HP:0012372	Abnormal eye morphology	7045	TGFBI	ORPHA:98964
HP:0012372	Abnormal eye morphology	7045	TGFBI	OMIM:608470
HP:0012372	Abnormal eye morphology	55593	OTUD5	OMIM:301056
HP:0012372	Abnormal eye morphology	4125	MAN2B1	ORPHA:309282
HP:0012372	Abnormal eye morphology	4125	MAN2B1	ORPHA:309288
HP:0012372	Abnormal eye morphology	83959	SLC4A11	ORPHA:293603
HP:0012372	Abnormal eye morphology	83959	SLC4A11	ORPHA:1490
HP:0012372	Abnormal eye morphology	83959	SLC4A11	ORPHA:98974
HP:0012372	Abnormal eye morphology	54101	RIPK4	ORPHA:1234
HP:0012372	Abnormal eye morphology	6905	TBCE	ORPHA:2323
HP:0012372	Abnormal eye morphology	10413	YAP1	ORPHA:1473
HP:0012372	Abnormal eye morphology	5080	PAX6	ORPHA:137902
HP:0012372	Abnormal eye morphology	5080	PAX6	OMIM:120200
HP:0012372	Abnormal eye morphology	4952	OCRL	ORPHA:534
HP:0012372	Abnormal eye morphology	29954	POMT2	OMIM:236670
HP:0012372	Abnormal eye morphology	29954	POMT2	ORPHA:899
HP:0012372	Abnormal eye morphology	9215	LARGE1	OMIM:236670
HP:0012372	Abnormal eye morphology	9215	LARGE1	ORPHA:899
HP:0012372	Abnormal eye morphology	79147	FKRP	OMIM:236670
HP:0012372	Abnormal eye morphology	79147	FKRP	ORPHA:899
HP:0012372	Abnormal eye morphology	79147	FKRP	OMIM:613153
HP:0012372	Abnormal eye morphology	10585	POMT1	OMIM:236670
HP:0012372	Abnormal eye morphology	10585	POMT1	ORPHA:899
HP:0012372	Abnormal eye morphology	2218	FKTN	OMIM:236670
HP:0012372	Abnormal eye morphology	2218	FKTN	ORPHA:899
HP:0012372	Abnormal eye morphology	84892	POMGNT2	ORPHA:899
HP:0012372	Abnormal eye morphology	148789	B3GALNT2	ORPHA:899
HP:0012372	Abnormal eye morphology	1282	COL4A1	ORPHA:899
HP:0012372	Abnormal eye morphology	1282	COL4A1	OMIM:175780
HP:0012372	Abnormal eye morphology	729920	CRPPA	ORPHA:899
HP:0012372	Abnormal eye morphology	10329	RXYLT1	ORPHA:899
HP:0012372	Abnormal eye morphology	1605	DAG1	ORPHA:899
HP:0012372	Abnormal eye morphology	11041	B4GAT1	ORPHA:899
HP:0012372	Abnormal eye morphology	84197	POMK	ORPHA:899
HP:0012372	Abnormal eye morphology	55624	POMGNT1	ORPHA:899
HP:0012372	Abnormal eye morphology	427	ASAH1	ORPHA:333
HP:0012372	Abnormal eye morphology	5980	REV3L	ORPHA:570
HP:0012372	Abnormal eye morphology	23129	PLXND1	ORPHA:570
HP:0012372	Abnormal eye morphology	51360	MBTPS2	ORPHA:2273
HP:0012372	Abnormal eye morphology	10584	COLEC10	OMIM:248340
HP:0012372	Abnormal eye morphology	1545	CYP1B1	OMIM:617315
HP:0012372	Abnormal eye morphology	3423	IDS	ORPHA:217085
HP:0012372	Abnormal eye morphology	3423	IDS	ORPHA:217093
HP:0012372	Abnormal eye morphology	5155	PDGFB	ORPHA:1980
HP:0012372	Abnormal eye morphology	9213	XPR1	ORPHA:1980
HP:0012372	Abnormal eye morphology	5159	PDGFRB	ORPHA:1980
HP:0012372	Abnormal eye morphology	5159	PDGFRB	OMIM:601812
HP:0012372	Abnormal eye morphology	57462	MYORG	ORPHA:1980
HP:0012372	Abnormal eye morphology	6575	SLC20A2	ORPHA:1980
HP:0012372	Abnormal eye morphology	58494	JAM2	ORPHA:1980
HP:0012372	Abnormal eye morphology	412	STS	ORPHA:281090
HP:0012372	Abnormal eye morphology	27151	CPAMD8	OMIM:617319
HP:0012372	Abnormal eye morphology	2260	FGFR1	ORPHA:2396
HP:0012372	Abnormal eye morphology	3845	KRAS	ORPHA:2396
HP:0012372	Abnormal eye morphology	3845	KRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	1147	CHUK	OMIM:619339
HP:0012372	Abnormal eye morphology	2717	GLA	ORPHA:324
HP:0012372	Abnormal eye morphology	4323	MMP14	OMIM:277950
HP:0012372	Abnormal eye morphology	54539	NDUFB11	ORPHA:2556
HP:0012372	Abnormal eye morphology	1349	COX7B	ORPHA:2556
HP:0012372	Abnormal eye morphology	3052	HCCS	ORPHA:2556
HP:0012372	Abnormal eye morphology	6768	ST14	OMIM:602400
HP:0012372	Abnormal eye morphology	6898	TAT	ORPHA:28378
HP:0012372	Abnormal eye morphology	9184	BUB3	ORPHA:1052
HP:0012372	Abnormal eye morphology	699	BUB1	ORPHA:1052
HP:0012372	Abnormal eye morphology	9702	CEP57	ORPHA:1052
HP:0012372	Abnormal eye morphology	9319	TRIP13	ORPHA:1052
HP:0012372	Abnormal eye morphology	701	BUB1B	ORPHA:1052
HP:0012372	Abnormal eye morphology	4053	LTBP2	OMIM:613086
HP:0012372	Abnormal eye morphology	2720	GLB1	OMIM:253010
HP:0012372	Abnormal eye morphology	4041	LRP5	ORPHA:2788
HP:0012372	Abnormal eye morphology	1301	COL11A1	ORPHA:90654
HP:0012372	Abnormal eye morphology	93627	TBCK	ORPHA:488632
HP:0012372	Abnormal eye morphology	2301	FOXE3	OMIM:610256
HP:0012372	Abnormal eye morphology	3425	IDUA	OMIM:607014
HP:0012372	Abnormal eye morphology	3425	IDUA	OMIM:607016
HP:0012372	Abnormal eye morphology	3425	IDUA	OMIM:607015
HP:0012372	Abnormal eye morphology	3425	IDUA	ORPHA:93474
HP:0012372	Abnormal eye morphology	3425	IDUA	ORPHA:93473
HP:0012372	Abnormal eye morphology	3425	IDUA	ORPHA:93476
HP:0012372	Abnormal eye morphology	2697	GJA1	ORPHA:317
HP:0012372	Abnormal eye morphology	2707	GJB3	ORPHA:317
HP:0012372	Abnormal eye morphology	2531	KDSR	ORPHA:317
HP:0012372	Abnormal eye morphology	127534	GJB4	ORPHA:317
HP:0012372	Abnormal eye morphology	9487	PIGL	ORPHA:3474
HP:0012372	Abnormal eye morphology	11081	KERA	OMIM:217300
HP:0012372	Abnormal eye morphology	5476	CTSA	ORPHA:351
HP:0012372	Abnormal eye morphology	55768	NGLY1	OMIM:615273
HP:0012372	Abnormal eye morphology	64840	PORCN	ORPHA:2092
HP:0012372	Abnormal eye morphology	1296	COL8A2	OMIM:609140
HP:0012372	Abnormal eye morphology	1296	COL8A2	ORPHA:98973
HP:0012372	Abnormal eye morphology	1296	COL8A2	ORPHA:98974
HP:0012372	Abnormal eye morphology	4519	MT-CYB	ORPHA:137675
HP:0012372	Abnormal eye morphology	6804	STX1A	ORPHA:904
HP:0012372	Abnormal eye morphology	7461	CLIP2	ORPHA:904
HP:0012372	Abnormal eye morphology	84277	DNAJC30	ORPHA:904
HP:0012372	Abnormal eye morphology	8468	FKBP6	ORPHA:904
HP:0012372	Abnormal eye morphology	5982	RFC2	ORPHA:904
HP:0012372	Abnormal eye morphology	2969	GTF2I	ORPHA:904
HP:0012372	Abnormal eye morphology	3984	LIMK1	ORPHA:904
HP:0012372	Abnormal eye morphology	9569	GTF2IRD1	ORPHA:904
HP:0012372	Abnormal eye morphology	155382	VPS37D	ORPHA:904
HP:0012372	Abnormal eye morphology	155368	METTL27	ORPHA:904
HP:0012372	Abnormal eye morphology	114049	BUD23	ORPHA:904
HP:0012372	Abnormal eye morphology	7458	EIF4H	ORPHA:904
HP:0012372	Abnormal eye morphology	84163	GTF2IRD2	ORPHA:904
HP:0012372	Abnormal eye morphology	9275	BCL7B	ORPHA:904
HP:0012372	Abnormal eye morphology	26608	TBL2	ORPHA:904
HP:0012372	Abnormal eye morphology	653361	NCF1	ORPHA:904
HP:0012372	Abnormal eye morphology	135886	TMEM270	ORPHA:904
HP:0012372	Abnormal eye morphology	51085	MLXIPL	ORPHA:904
HP:0012372	Abnormal eye morphology	9031	BAZ1B	ORPHA:904
HP:0012372	Abnormal eye morphology	2006	ELN	ORPHA:904
HP:0012372	Abnormal eye morphology	2006	ELN	ORPHA:90348
HP:0012372	Abnormal eye morphology	4893	NRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	3265	HRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	1859	DYRK1A	ORPHA:464311
HP:0012372	Abnormal eye morphology	2517	FUCA1	ORPHA:349
HP:0012372	Abnormal eye morphology	285362	SUMF1	OMIM:272200
HP:0012372	Abnormal eye morphology	285362	SUMF1	ORPHA:585
HP:0012372	Abnormal eye morphology	8517	IKBKG	ORPHA:464
HP:0012372	Abnormal eye morphology	2990	GUSB	ORPHA:584
HP:0012372	Abnormal eye morphology	2990	GUSB	OMIM:253220
HP:0012372	Abnormal eye morphology	4000	LMNA	ORPHA:740
HP:0012372	Abnormal eye morphology	10269	ZMPSTE24	ORPHA:740
HP:0012372	Abnormal eye morphology	55210	ATAD3A	ORPHA:496790
HP:0012372	Abnormal eye morphology	55210	ATAD3A	OMIM:617183
HP:0012372	Abnormal eye morphology	162514	TRPV3	OMIM:614594
HP:0012372	Abnormal eye morphology	5130	PCYT1A	ORPHA:85167
HP:0012372	Abnormal eye morphology	50485	SMARCAL1	ORPHA:1830
HP:0012372	Abnormal eye morphology	6925	TCF4	OMIM:613267
HP:0012372	Abnormal eye morphology	6925	TCF4	ORPHA:98974
HP:0012372	Abnormal eye morphology	3931	LCAT	ORPHA:79292
HP:0012372	Abnormal eye morphology	57192	MCOLN1	ORPHA:578
HP:0012372	Abnormal eye morphology	57192	MCOLN1	OMIM:252650
HP:0012372	Abnormal eye morphology	11128	POLR3A	ORPHA:3455
HP:0012372	Abnormal eye morphology	19	ABCA1	ORPHA:31150
HP:0012372	Abnormal eye morphology	7837	PXDN	OMIM:269400
HP:0012372	Abnormal eye morphology	5295	PIK3R1	ORPHA:3163
HP:0012372	Abnormal eye morphology	5331	PLCB3	OMIM:618961
HP:0012372	Abnormal eye morphology	55612	FERMT1	ORPHA:2908
HP:0012372	Abnormal eye morphology	2629	GBA1	ORPHA:2072
HP:0012372	Abnormal eye morphology	10516	FBLN5	ORPHA:90348
HP:0012372	Abnormal eye morphology	4094	MAF	OMIM:610202
HP:0012372	Abnormal eye morphology	4094	MAF	ORPHA:1377
HP:0012372	Abnormal eye morphology	9939	RBM8A	OMIM:274000
HP:0012372	Abnormal eye morphology	4313	MMP2	OMIM:259600
HP:0012372	Abnormal eye morphology	117581	TWIST2	ORPHA:920
HP:0012372	Abnormal eye morphology	157570	ESCO2	OMIM:268300
HP:0012372	Abnormal eye morphology	2317	FLNB	OMIM:150250
HP:0012372	Abnormal eye morphology	3832	KIF11	OMIM:152950
HP:0012372	Abnormal eye morphology	58495	OVOL2	OMIM:122000
HP:0012372	Abnormal eye morphology	58495	OVOL2	ORPHA:98973
HP:0012372	Abnormal eye morphology	2703	GJA8	ORPHA:1377
HP:0012372	Abnormal eye morphology	1413	CRYBA4	ORPHA:1377
HP:0012372	Abnormal eye morphology	1409	CRYAA	ORPHA:1377
HP:0012372	Abnormal eye morphology	1415	CRYBB2	ORPHA:1377
HP:0012372	Abnormal eye morphology	1414	CRYBB1	ORPHA:1377
HP:0012372	Abnormal eye morphology	1420	CRYGC	ORPHA:1377
HP:0012372	Abnormal eye morphology	1421	CRYGD	ORPHA:1377
HP:0012372	Abnormal eye morphology	9935	MAFB	OMIM:166300
HP:0012372	Abnormal eye morphology	55670	PEX26	ORPHA:912
HP:0012372	Abnormal eye morphology	5824	PEX19	ORPHA:912
HP:0012372	Abnormal eye morphology	5828	PEX2	ORPHA:912
HP:0012372	Abnormal eye morphology	8504	PEX3	ORPHA:912
HP:0012372	Abnormal eye morphology	8799	PEX11B	ORPHA:912
HP:0012372	Abnormal eye morphology	9409	PEX16	ORPHA:912
HP:0012372	Abnormal eye morphology	5190	PEX6	ORPHA:912
HP:0012372	Abnormal eye morphology	5830	PEX5	ORPHA:912
HP:0012372	Abnormal eye morphology	5189	PEX1	ORPHA:912
HP:0012372	Abnormal eye morphology	5193	PEX12	ORPHA:912
HP:0012372	Abnormal eye morphology	5194	PEX13	ORPHA:912
HP:0012372	Abnormal eye morphology	5195	PEX14	ORPHA:912
HP:0012372	Abnormal eye morphology	5192	PEX10	ORPHA:912
HP:0012372	Abnormal eye morphology	3852	KRT5	ORPHA:79396
HP:0012372	Abnormal eye morphology	3861	KRT14	ORPHA:79396
HP:0012372	Abnormal eye morphology	6935	ZEB1	ORPHA:98973
HP:0012372	Abnormal eye morphology	6935	ZEB1	ORPHA:98974
HP:0012372	Abnormal eye morphology	30813	VSX1	ORPHA:98973
HP:0012372	Abnormal eye morphology	79977	GRHL2	ORPHA:98973
HP:0012372	Abnormal eye morphology	54808	DYM	ORPHA:239
HP:0012372	Abnormal eye morphology	123624	AGBL1	ORPHA:98974
HP:0012372	Abnormal eye morphology	10312	TCIRG1	ORPHA:210110
HP:0012372	Abnormal eye morphology	1186	CLCN7	ORPHA:210110
HP:0012372	Abnormal eye morphology	9842	PLEKHM1	ORPHA:210110
HP:0012372	Abnormal eye morphology	200576	PIKFYVE	OMIM:121850
HP:0012372	Abnormal eye morphology	1495	CTNNA1	OMIM:608970
HP:0012372	Abnormal eye morphology	1280	COL2A1	ORPHA:485
HP:0012372	Abnormal eye morphology	1297	COL9A1	OMIM:614134
HP:0012372	Abnormal eye morphology	2065	ERBB3	OMIM:607598
HP:0012372	Abnormal eye morphology	1302	COL11A2	ORPHA:1427
HP:0012372	Abnormal eye morphology	54880	BCOR	OMIM:300166
HP:0012372	Abnormal eye morphology	57688	ZSWIM6	OMIM:603671
HP:0012372	Abnormal eye morphology	631	BFSP1	OMIM:611391
HP:0012372	Abnormal eye morphology	4284	MIP	OMIM:615274
HP:0012372	Abnormal eye morphology	134218	DNAJC21	OMIM:617052
HP:0012372	Abnormal eye morphology	203068	TUBB	OMIM:615771
HP:0012372	Abnormal eye morphology	5147	PDE6D	OMIM:615665
HP:0012372	Abnormal eye morphology	84816	RTN4IP1	OMIM:616732
HP:0012372	Abnormal eye morphology	2161	F12	ORPHA:330
HP:0012372	Abnormal eye morphology	103	ADAR	ORPHA:41
HP:0012372	Abnormal eye morphology	80173	IFT74	OMIM:617119
HP:0012372	Abnormal eye morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012372	Abnormal eye morphology	22947	DUX4L1	ORPHA:269
HP:0012372	Abnormal eye morphology	100288687	DUX4	ORPHA:269
HP:0012372	Abnormal eye morphology	7428	VHL	ORPHA:892
HP:0012372	Abnormal eye morphology	7428	VHL	ORPHA:29072
HP:0012372	Abnormal eye morphology	7428	VHL	OMIM:193300
HP:0012372	Abnormal eye morphology	595	CCND1	ORPHA:892
HP:0012372	Abnormal eye morphology	595	CCND1	OMIM:193300
HP:0012372	Abnormal eye morphology	1743	DLST	ORPHA:29072
HP:0012372	Abnormal eye morphology	4191	MDH2	ORPHA:29072
HP:0012372	Abnormal eye morphology	5979	RET	ORPHA:29072
HP:0012372	Abnormal eye morphology	6389	SDHA	ORPHA:29072
HP:0012372	Abnormal eye morphology	23095	KIF1B	ORPHA:29072
HP:0012372	Abnormal eye morphology	2271	FH	ORPHA:29072
HP:0012372	Abnormal eye morphology	8402	SLC25A11	ORPHA:29072
HP:0012372	Abnormal eye morphology	54949	SDHAF2	ORPHA:29072
HP:0012372	Abnormal eye morphology	55654	TMEM127	ORPHA:29072
HP:0012372	Abnormal eye morphology	4149	MAX	ORPHA:29072
HP:0012372	Abnormal eye morphology	7249	TSC2	OMIM:613254
HP:0012372	Abnormal eye morphology	3458	IFNG	OMIM:613254
HP:0012372	Abnormal eye morphology	7248	TSC1	OMIM:191100
HP:0012372	Abnormal eye morphology	4763	NF1	OMIM:601321
HP:0012372	Abnormal eye morphology	4763	NF1	OMIM:162200
HP:0012372	Abnormal eye morphology	4763	NF1	OMIM:162210
HP:0012372	Abnormal eye morphology	4763	NF1	ORPHA:363700
HP:0012372	Abnormal eye morphology	4763	NF1	OMIM:193520
HP:0012372	Abnormal eye morphology	4763	NF1	ORPHA:97685
HP:0012372	Abnormal eye morphology	2956	MSH6	OMIM:619097
HP:0012372	Abnormal eye morphology	161742	SPRED1	ORPHA:137605
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:280200
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:220386
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:93926
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:93924
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:93925
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:280200
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:220386
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:93926
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:93924
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:93925
HP:0012372	Abnormal eye morphology	6496	SIX3	ORPHA:280200
HP:0012372	Abnormal eye morphology	6496	SIX3	ORPHA:220386
HP:0012372	Abnormal eye morphology	6496	SIX3	ORPHA:93926
HP:0012372	Abnormal eye morphology	6496	SIX3	ORPHA:93924
HP:0012372	Abnormal eye morphology	6496	SIX3	ORPHA:93925
HP:0012372	Abnormal eye morphology	6496	SIX3	OMIM:157170
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:280200
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:220386
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:93926
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:93924
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:93925
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:280200
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:220386
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:93926
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:93924
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:93925
HP:0012372	Abnormal eye morphology	51684	SUFU	ORPHA:280200
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:280200
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:220386
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:93926
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:93924
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:93925
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:280200
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:220386
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:93926
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:93924
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:93925
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:280200
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:220386
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:93926
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:93924
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:93925
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:280200
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:220386
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:93926
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:93924
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:93925
HP:0012372	Abnormal eye morphology	5396	PRRX1	ORPHA:990
HP:0012372	Abnormal eye morphology	23007	PLCH1	OMIM:619895
HP:0012372	Abnormal eye morphology	23007	PLCH1	ORPHA:93925
HP:0012372	Abnormal eye morphology	8243	SMC1A	ORPHA:220386
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:220386
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93926
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93924
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93925
HP:0012372	Abnormal eye morphology	284252	KCTD1	OMIM:181270
HP:0012372	Abnormal eye morphology	1656	DDX6	OMIM:618653
HP:0012372	Abnormal eye morphology	91147	TMEM67	OMIM:613550
HP:0012372	Abnormal eye morphology	29926	GMPPA	OMIM:615510
HP:0012372	Abnormal eye morphology	5376	PMP22	ORPHA:90658
HP:0012372	Abnormal eye morphology	79628	SH3TC2	ORPHA:99949
HP:0012372	Abnormal eye morphology	25942	SIN3A	OMIM:613406
HP:0012372	Abnormal eye morphology	8086	AAAS	OMIM:231550
HP:0012372	Abnormal eye morphology	54507	ADAMTSL4	OMIM:225200
HP:0012372	Abnormal eye morphology	80036	TRPM3	OMIM:620253
HP:0012372	Abnormal eye morphology	6909	TBX2	OMIM:618223
HP:0012372	Abnormal eye morphology	387	RHOA	OMIM:618727
HP:0012372	Abnormal eye morphology	10586	MAB21L2	OMIM:615877
HP:0012372	Abnormal eye morphology	53834	FGFRL1	OMIM:194190
HP:0012372	Abnormal eye morphology	1487	CTBP1	OMIM:194190
HP:0012372	Abnormal eye morphology	3954	LETM1	OMIM:194190
HP:0012372	Abnormal eye morphology	7468	NSD2	OMIM:194190
HP:0012372	Abnormal eye morphology	10815	CPLX1	OMIM:194190
HP:0012372	Abnormal eye morphology	11200	CHEK2	OMIM:259500
HP:0012372	Abnormal eye morphology	6655	SOS2	OMIM:616559
HP:0012372	Abnormal eye morphology	8216	LZTR1	OMIM:616564
HP:0012372	Abnormal eye morphology	3074	HEXB	ORPHA:309155
HP:0012372	Abnormal eye morphology	3074	HEXB	OMIM:268800
HP:0012372	Abnormal eye morphology	2581	GALC	ORPHA:206436
HP:0012372	Abnormal eye morphology	5660	PSAP	ORPHA:206436
HP:0012372	Abnormal eye morphology	79583	TMEM231	ORPHA:2752
HP:0012372	Abnormal eye morphology	3073	HEXA	OMIM:272800
HP:0012372	Abnormal eye morphology	1615	DARS1	OMIM:615281
HP:0012372	Abnormal eye morphology	2760	GM2A	ORPHA:309246
HP:0012372	Abnormal eye morphology	10730	YME1L1	OMIM:617302
HP:0012372	Abnormal eye morphology	1411	CRYBA1	OMIM:600881
HP:0012372	Abnormal eye morphology	2700	GJA3	OMIM:601885
HP:0012372	Abnormal eye morphology	8443	GNPAT	OMIM:222765
HP:0012372	Abnormal eye morphology	6513	SLC2A1	ORPHA:168577
HP:0012372	Abnormal eye morphology	81570	CLPB	OMIM:616271
HP:0012372	Abnormal eye morphology	1427	CRYGS	OMIM:116100
HP:0012372	Abnormal eye morphology	55229	PANK4	OMIM:619593
HP:0012372	Abnormal eye morphology	114928	GPRASP2	OMIM:301018
HP:0012372	Abnormal eye morphology	54499	TMCO1	OMIM:213980
HP:0012372	Abnormal eye morphology	54675	CRLS1	OMIM:620167
HP:0012372	Abnormal eye morphology	2192	FBLN1	ORPHA:404451
HP:0012372	Abnormal eye morphology	5339	PLEC	OMIM:226670
HP:0012372	Abnormal eye morphology	4337	MOCS1	OMIM:252150
HP:0012372	Abnormal eye morphology	4338	MOCS2	OMIM:252160
HP:0012372	Abnormal eye morphology	113246	C12orf57	OMIM:218340
HP:0012372	Abnormal eye morphology	7010	TEK	OMIM:617272
HP:0012372	Abnormal eye morphology	5322	PLA2G5	OMIM:228980
HP:0012372	Abnormal eye morphology	57105	CYSLTR2	ORPHA:39044
HP:0012372	Abnormal eye morphology	2776	GNAQ	ORPHA:39044
HP:0012372	Abnormal eye morphology	2767	GNA11	ORPHA:39044
HP:0012372	Abnormal eye morphology	23451	SF3B1	ORPHA:39044
HP:0012372	Abnormal eye morphology	144811	LACC1	ORPHA:85414
HP:0012372	Abnormal eye morphology	4282	MIF	ORPHA:85414
HP:0012372	Abnormal eye morphology	3569	IL6	ORPHA:85414
HP:0012372	Abnormal eye morphology	7128	TNFAIP3	OMIM:616744
HP:0012372	Abnormal eye morphology	3106	HLA-B	OMIM:106300
HP:0012372	Abnormal eye morphology	330	BIRC3	ORPHA:52417
HP:0012372	Abnormal eye morphology	10892	MALT1	ORPHA:52417
HP:0012372	Abnormal eye morphology	27086	FOXP1	ORPHA:52417
HP:0012372	Abnormal eye morphology	3492	IGH	ORPHA:52417
HP:0012372	Abnormal eye morphology	8915	BCL10	ORPHA:52417
HP:0012372	Abnormal eye morphology	4942	OAT	OMIM:258870
HP:0012372	Abnormal eye morphology	7253	TSHR	ORPHA:424
HP:0012372	Abnormal eye morphology	55033	FKBP14	ORPHA:300179
HP:0012372	Abnormal eye morphology	4010	LMX1B	OMIM:161200
HP:0012372	Abnormal eye morphology	462	SERPINC1	ORPHA:82
HP:0012372	Abnormal eye morphology	136371	ASB10	OMIM:603383
HP:0012372	Abnormal eye morphology	59335	PRDM12	OMIM:616488
HP:0012372	Abnormal eye morphology	4358	MPV17	OMIM:256810
HP:0012372	Abnormal eye morphology	83938	LRMDA	OMIM:615179
HP:0012372	Abnormal eye morphology	23474	ETHE1	ORPHA:51188
HP:0012372	Abnormal eye morphology	9993	DGCR2	OMIM:192430
HP:0012372	Abnormal eye morphology	8220	ESS2	OMIM:192430
HP:0012372	Abnormal eye morphology	8214	DGCR6	OMIM:192430
HP:0012372	Abnormal eye morphology	54487	DGCR8	OMIM:192430
HP:0012372	Abnormal eye morphology	157657	CFAP418	OMIM:614500
HP:0012372	Abnormal eye morphology	5961	PRPH2	OMIM:169150
HP:0012372	Abnormal eye morphology	10283	CWC27	OMIM:250410
HP:0012372	Abnormal eye morphology	10625	IVNS1ABP	OMIM:618969
HP:0012372	Abnormal eye morphology	3932	LCK	OMIM:615758
HP:0012372	Abnormal eye morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012372	Abnormal eye morphology	523	ATP6V1A	ORPHA:357074
HP:0012372	Abnormal eye morphology	529	ATP6V1E1	ORPHA:357074
HP:0012372	Abnormal eye morphology	5308	PITX2	OMIM:180550
HP:0012372	Abnormal eye morphology	710	SERPING1	ORPHA:100050
HP:0012372	Abnormal eye morphology	3490	IGFBP7	OMIM:614224
HP:0012372	Abnormal eye morphology	2670	GFAP	OMIM:203450
HP:0012372	Abnormal eye morphology	5950	RBP4	OMIM:616428
HP:0012372	Abnormal eye morphology	3913	LAMB2	OMIM:609049
HP:0012372	Abnormal eye morphology	7306	TYRP1	ORPHA:79433
HP:0012372	Abnormal eye morphology	9699	RIMS2	OMIM:618970
HP:0012372	Abnormal eye morphology	9371	KIF3B	OMIM:618955
HP:0012372	Abnormal eye morphology	2673	GFPT1	OMIM:610542
HP:0012372	Abnormal eye morphology	1181	CLCN2	OMIM:615651
HP:0012372	Abnormal eye morphology	71	ACTG1	ORPHA:2995
HP:0012372	Abnormal eye morphology	60	ACTB	ORPHA:2995
HP:0012372	Abnormal eye morphology	23554	TSPAN12	ORPHA:891
HP:0012372	Abnormal eye morphology	23503	ZFYVE26	ORPHA:100996
HP:0012372	Abnormal eye morphology	189	AGXT	OMIM:259900
HP:0012372	Abnormal eye morphology	5373	PMM2	ORPHA:79318
HP:0012372	Abnormal eye morphology	283652	SLC24A5	ORPHA:370097
HP:0012372	Abnormal eye morphology	3000	GUCY2D	ORPHA:75377
HP:0012372	Abnormal eye morphology	2978	GUCA1A	ORPHA:75377
HP:0012372	Abnormal eye morphology	6017	RLBP1	ORPHA:85128
HP:0012372	Abnormal eye morphology	7123	CLEC3B	OMIM:619977
HP:0012372	Abnormal eye morphology	85465	SELENOI	ORPHA:506353
HP:0012372	Abnormal eye morphology	256471	MFSD8	OMIM:616170
HP:0012372	Abnormal eye morphology	326	AIRE	OMIM:240300
HP:0012372	Abnormal eye morphology	22901	ARSG	OMIM:618144
HP:0012372	Abnormal eye morphology	2615	LRRC32	OMIM:619074
HP:0012372	Abnormal eye morphology	726	CAPN5	OMIM:193235
HP:0012372	Abnormal eye morphology	27183	VPS4A	OMIM:619273
HP:0012372	Abnormal eye morphology	5076	PAX2	OMIM:120330
HP:0012372	Abnormal eye morphology	755	CFAP410	OMIM:617547
HP:0012372	Abnormal eye morphology	3030	HADHA	ORPHA:5
HP:0012372	Abnormal eye morphology	7439	BEST1	OMIM:193220
HP:0012372	Abnormal eye morphology	402	ARL2	OMIM:619082
HP:0012372	Abnormal eye morphology	4157	MC1R	ORPHA:79432
HP:0012372	Abnormal eye morphology	4948	OCA2	ORPHA:79432
HP:0012372	Abnormal eye morphology	50939	IMPG2	OMIM:613581
HP:0012372	Abnormal eye morphology	51604	PIGT	ORPHA:369837
HP:0012372	Abnormal eye morphology	6472	SHMT2	OMIM:619121
HP:0012372	Abnormal eye morphology	4137	MAPT	ORPHA:240071
HP:0012372	Abnormal eye morphology	7132	TNFRSF1A	OMIM:142680
HP:0012372	Abnormal eye morphology	164	AP1G1	OMIM:619548
HP:0012372	Abnormal eye morphology	81794	ADAMTS10	OMIM:277600
HP:0012372	Abnormal eye morphology	79848	CSPP1	ORPHA:397715
HP:0012372	Abnormal eye morphology	9786	KIAA0586	ORPHA:397715
HP:0012372	Abnormal eye morphology	11277	TREX1	ORPHA:247691
HP:0012372	Abnormal eye morphology	348	APOE	OMIM:603075
HP:0012372	Abnormal eye morphology	83872	HMCN1	OMIM:603075
HP:0012372	Abnormal eye morphology	3078	CFHR1	OMIM:603075
HP:0012372	Abnormal eye morphology	10878	CFHR3	OMIM:603075
HP:0012372	Abnormal eye morphology	10058	ABCB6	OMIM:614497
HP:0012372	Abnormal eye morphology	51134	CEP83	OMIM:615862
HP:0012372	Abnormal eye morphology	26005	C2CD3	OMIM:615948
HP:0012372	Abnormal eye morphology	51112	TRAPPC12	OMIM:617669
HP:0012372	Abnormal eye morphology	10935	PRDX3	OMIM:619871
HP:0012372	Abnormal eye morphology	6492	SIM1	ORPHA:398079
HP:0012372	Abnormal eye morphology	10216	PRG4	ORPHA:2848
HP:0012372	Abnormal eye morphology	79443	FYCO1	OMIM:610019
HP:0012372	Abnormal eye morphology	7390	UROS	ORPHA:79277
HP:0012372	Abnormal eye morphology	2623	GATA1	ORPHA:79277
HP:0012372	Abnormal eye morphology	7389	UROD	ORPHA:95159
HP:0012372	Abnormal eye morphology	55315	SLC29A3	OMIM:602782
HP:0012372	Abnormal eye morphology	114548	NLRP3	ORPHA:575
HP:0012372	Abnormal eye morphology	5696	PSMB8	OMIM:256040
HP:0012372	Abnormal eye morphology	1776	DNASE1L3	ORPHA:36412
HP:0012372	Abnormal eye morphology	7084	TK2	ORPHA:254886
HP:0012372	Abnormal eye morphology	51284	TLR7	OMIM:301080
HP:0012372	Abnormal eye morphology	149233	IL23R	ORPHA:117
HP:0012372	Abnormal eye morphology	3586	IL10	ORPHA:117
HP:0012372	Abnormal eye morphology	4210	MEFV	ORPHA:117
HP:0012372	Abnormal eye morphology	1230	CCR1	ORPHA:117
HP:0012372	Abnormal eye morphology	355	FAS	ORPHA:117
HP:0012372	Abnormal eye morphology	3592	IL12A	ORPHA:117
HP:0012372	Abnormal eye morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012372	Abnormal eye morphology	7099	TLR4	ORPHA:117
HP:0012372	Abnormal eye morphology	3459	IFNGR1	ORPHA:117
HP:0012372	Abnormal eye morphology	720	C4A	ORPHA:117
HP:0012372	Abnormal eye morphology	337867	UBAC2	ORPHA:117
HP:0012372	Abnormal eye morphology	51752	ERAP1	ORPHA:117
HP:0012372	Abnormal eye morphology	8302	KLRC4	ORPHA:117
HP:0012372	Abnormal eye morphology	9692	PRORP	OMIM:619737
HP:0012372	Abnormal eye morphology	113457	TUBA3D	OMIM:617928
HP:0012372	Abnormal eye morphology	57479	PRR12	OMIM:619539
HP:0012372	Abnormal eye morphology	23291	FBXW11	OMIM:618914
HP:0012372	Abnormal eye morphology	2248	FGF3	ORPHA:2791
HP:0012372	Abnormal eye morphology	3858	KRT10	ORPHA:312
HP:0012372	Abnormal eye morphology	3848	KRT1	ORPHA:312
HP:0012372	Abnormal eye morphology	10483	SEC23B	ORPHA:201
HP:0012372	Abnormal eye morphology	6390	SDHB	ORPHA:201
HP:0012372	Abnormal eye morphology	6392	SDHD	ORPHA:201
HP:0012372	Abnormal eye morphology	6391	SDHC	ORPHA:201
HP:0012372	Abnormal eye morphology	205717	USF3	ORPHA:201
HP:0012372	Abnormal eye morphology	5290	PIK3CA	ORPHA:201
HP:0012372	Abnormal eye morphology	100144748	KLLN	ORPHA:201
HP:0012372	Abnormal eye morphology	153642	ARSK	OMIM:619698
HP:0012372	Abnormal eye morphology	55214	P3H2	OMIM:614292
HP:0012372	Abnormal eye morphology	5626	PROP1	ORPHA:95494
HP:0012372	Abnormal eye morphology	2736	GLI2	ORPHA:95494
HP:0012372	Abnormal eye morphology	89884	LHX4	ORPHA:95494
HP:0012372	Abnormal eye morphology	89884	LHX4	ORPHA:95496
HP:0012372	Abnormal eye morphology	3170	FOXA2	ORPHA:95494
HP:0012372	Abnormal eye morphology	5449	POU1F1	ORPHA:95494
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:95494
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:95496
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:3157
HP:0012372	Abnormal eye morphology	10735	STAG2	OMIM:301043
HP:0012372	Abnormal eye morphology	128674	PROKR2	ORPHA:95496
HP:0012372	Abnormal eye morphology	128674	PROKR2	ORPHA:3157
HP:0012372	Abnormal eye morphology	6091	ROBO1	ORPHA:95496
HP:0012372	Abnormal eye morphology	50937	CDON	ORPHA:95496
HP:0012372	Abnormal eye morphology	23432	GPR161	ORPHA:95496
HP:0012372	Abnormal eye morphology	9578	CDC42BPB	OMIM:619841
HP:0012372	Abnormal eye morphology	6658	SOX3	ORPHA:3157
HP:0012372	Abnormal eye morphology	9915	ARNT2	ORPHA:3157
HP:0012372	Abnormal eye morphology	7473	WNT3	ORPHA:3301
HP:0012372	Abnormal eye morphology	340419	RSPO2	ORPHA:3301
HP:0012372	Abnormal eye morphology	23314	SATB2	ORPHA:576283
HP:0012372	Abnormal eye morphology	23729	SHPK	ORPHA:440713
HP:0012372	Abnormal eye morphology	55154	MSTO1	ORPHA:502423
HP:0012372	Abnormal eye morphology	10804	GJB6	ORPHA:477
HP:0012372	Abnormal eye morphology	2706	GJB2	ORPHA:477
HP:0012372	Abnormal eye morphology	4072	EPCAM	ORPHA:92050
HP:0012372	Abnormal eye morphology	105371045	PERCC1	ORPHA:92050
HP:0012372	Abnormal eye morphology	2263	FGFR2	ORPHA:87
HP:0012372	Abnormal eye morphology	10320	IKZF1	ORPHA:36426
HP:0012372	Abnormal eye morphology	8218	CLTCL1	ORPHA:453510
HP:0012372	Abnormal eye morphology	26128	KIFBP	OMIM:609460
HP:0012372	Abnormal eye morphology	1286	COL4A4	OMIM:203780
HP:0012372	Abnormal eye morphology	2303	FOXC2	ORPHA:33001
HP:0012372	Abnormal eye morphology	10653	SPINT2	OMIM:270420
HP:0012372	Abnormal eye morphology	55630	SLC39A4	ORPHA:37
HP:0012372	Abnormal eye morphology	4312	MMP1	ORPHA:79408
HP:0012372	Abnormal eye morphology	1294	COL7A1	ORPHA:79408
HP:0012372	Abnormal eye morphology	1294	COL7A1	ORPHA:79409
HP:0012372	Abnormal eye morphology	1294	COL7A1	ORPHA:89842
HP:0012372	Abnormal eye morphology	5336	PLCG2	OMIM:614878
HP:0012372	Abnormal eye morphology	242	ALOX12B	ORPHA:79394
HP:0012372	Abnormal eye morphology	204219	CERS3	ORPHA:79394
HP:0012372	Abnormal eye morphology	26154	ABCA12	ORPHA:79394
HP:0012372	Abnormal eye morphology	285848	PNPLA1	ORPHA:79394
HP:0012372	Abnormal eye morphology	59344	ALOXE3	ORPHA:79394
HP:0012372	Abnormal eye morphology	348938	NIPAL4	ORPHA:79394
HP:0012372	Abnormal eye morphology	7051	TGM1	ORPHA:79394
HP:0012372	Abnormal eye morphology	7490	WT1	OMIM:106210
HP:0012372	Abnormal eye morphology	540	ATP7B	ORPHA:905
HP:0012372	Abnormal eye morphology	540	ATP7B	OMIM:277900
HP:0012372	Abnormal eye morphology	1804	DPP6	OMIM:616311
HP:0012372	Abnormal eye morphology	7407	VARS1	OMIM:617802
HP:0012372	Abnormal eye morphology	7030	TFE3	OMIM:301066
HP:0012372	Abnormal eye morphology	23162	MAPK8IP3	OMIM:618443
HP:0012372	Abnormal eye morphology	1278	COL1A2	ORPHA:230851
HP:0012372	Abnormal eye morphology	10093	ARPC4	OMIM:620141
HP:0012372	Abnormal eye morphology	55901	THSD1	OMIM:620244
HP:0012372	Abnormal eye morphology	4327	MMP19	OMIM:611543
HP:0012375	Chemosis	3162	HMOX1	OMIM:614034
HP:0012378	Fatigue	1374	CPT1A	ORPHA:156
HP:0012378	Fatigue	26191	PTPN22	ORPHA:397
HP:0012378	Fatigue	26191	PTPN22	ORPHA:900
HP:0012378	Fatigue	26191	PTPN22	OMIM:180300
HP:0012378	Fatigue	3106	HLA-B	ORPHA:397
HP:0012378	Fatigue	3106	HLA-B	ORPHA:117
HP:0012378	Fatigue	3106	HLA-B	ORPHA:36426
HP:0012378	Fatigue	3106	HLA-B	ORPHA:3287
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:397
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:545
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:797
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:747
HP:0012378	Fatigue	8974	P4HA2	ORPHA:397
HP:0012378	Fatigue	171023	ASXL1	ORPHA:98850
HP:0012378	Fatigue	171023	ASXL1	ORPHA:98849
HP:0012378	Fatigue	54790	TET2	ORPHA:98850
HP:0012378	Fatigue	54790	TET2	ORPHA:98849
HP:0012378	Fatigue	54790	TET2	ORPHA:824
HP:0012378	Fatigue	54790	TET2	ORPHA:729
HP:0012378	Fatigue	54790	TET2	ORPHA:98826
HP:0012378	Fatigue	867	CBL	ORPHA:98850
HP:0012378	Fatigue	861	RUNX1	ORPHA:98850
HP:0012378	Fatigue	861	RUNX1	ORPHA:521
HP:0012378	Fatigue	6427	SRSF2	ORPHA:98850
HP:0012378	Fatigue	6427	SRSF2	ORPHA:98849
HP:0012378	Fatigue	4791	NFKB2	ORPHA:293978
HP:0012378	Fatigue	7428	VHL	OMIM:263400
HP:0012378	Fatigue	7428	VHL	ORPHA:276621
HP:0012378	Fatigue	7428	VHL	ORPHA:29072
HP:0012378	Fatigue	5913	RAPSN	OMIM:616326
HP:0012378	Fatigue	7148	TNXB	ORPHA:230839
HP:0012378	Fatigue	4625	MYH7	ORPHA:1880
HP:0012378	Fatigue	3815	KIT	ORPHA:98849
HP:0012378	Fatigue	3815	KIT	ORPHA:44890
HP:0012378	Fatigue	8291	DYSF	OMIM:253601
HP:0012378	Fatigue	811	CALR	ORPHA:824
HP:0012378	Fatigue	4352	MPL	ORPHA:824
HP:0012378	Fatigue	4352	MPL	ORPHA:729
HP:0012378	Fatigue	3717	JAK2	ORPHA:824
HP:0012378	Fatigue	3717	JAK2	ORPHA:729
HP:0012378	Fatigue	3717	JAK2	OMIM:133100
HP:0012378	Fatigue	7068	THRB	OMIM:274300
HP:0012378	Fatigue	6556	SLC11A1	ORPHA:3389
HP:0012378	Fatigue	10060	ABCC9	OMIM:619719
HP:0012378	Fatigue	4072	EPCAM	ORPHA:144
HP:0012378	Fatigue	4292	MLH1	ORPHA:144
HP:0012378	Fatigue	5395	PMS2	ORPHA:144
HP:0012378	Fatigue	27030	MLH3	ORPHA:144
HP:0012378	Fatigue	22909	FAN1	ORPHA:144
HP:0012378	Fatigue	7048	TGFBR2	ORPHA:144
HP:0012378	Fatigue	5290	PIK3CA	ORPHA:144
HP:0012378	Fatigue	2956	MSH6	ORPHA:144
HP:0012378	Fatigue	5378	PMS1	ORPHA:144
HP:0012378	Fatigue	4436	MSH2	ORPHA:144
HP:0012378	Fatigue	4233	MET	ORPHA:33402
HP:0012378	Fatigue	1499	CTNNB1	ORPHA:33402
HP:0012378	Fatigue	79577	CDC73	ORPHA:143
HP:0012378	Fatigue	79577	CDC73	ORPHA:99880
HP:0012378	Fatigue	1278	COL1A2	ORPHA:230851
HP:0012378	Fatigue	64218	SEMA4A	ORPHA:440437
HP:0012378	Fatigue	657	BMPR1A	ORPHA:440437
HP:0012378	Fatigue	6224	RPS20	ORPHA:440437
HP:0012378	Fatigue	2670	GFAP	OMIM:203450
HP:0012378	Fatigue	4221	MEN1	ORPHA:2965
HP:0012378	Fatigue	4221	MEN1	ORPHA:97279
HP:0012378	Fatigue	64072	CDH23	ORPHA:2965
HP:0012378	Fatigue	64072	CDH23	ORPHA:91347
HP:0012378	Fatigue	9049	AIP	ORPHA:2965
HP:0012378	Fatigue	9049	AIP	ORPHA:963
HP:0012378	Fatigue	2911	GRM1	OMIM:614831
HP:0012378	Fatigue	30061	SLC40A1	OMIM:606069
HP:0012378	Fatigue	23400	ATP13A2	ORPHA:314632
HP:0012378	Fatigue	23400	ATP13A2	ORPHA:306674
HP:0012378	Fatigue	23400	ATP13A2	OMIM:606693
HP:0012378	Fatigue	7252	TSHB	ORPHA:90674
HP:0012378	Fatigue	6005	RHAG	OMIM:185000
HP:0012378	Fatigue	6772	STAT1	OMIM:614162
HP:0012378	Fatigue	2859	GPR35	ORPHA:171
HP:0012378	Fatigue	10507	SEMA4D	ORPHA:171
HP:0012378	Fatigue	4485	MST1	ORPHA:171
HP:0012378	Fatigue	6925	TCF4	ORPHA:171
HP:0012378	Fatigue	54453	RIN2	OMIM:613075
HP:0012378	Fatigue	215	ABCD1	ORPHA:139399
HP:0012378	Fatigue	50484	RRM2B	OMIM:613077
HP:0012378	Fatigue	50484	RRM2B	ORPHA:254892
HP:0012378	Fatigue	146862	UNC45B	OMIM:619178
HP:0012378	Fatigue	2624	GATA2	ORPHA:98827
HP:0012378	Fatigue	2624	GATA2	ORPHA:3226
HP:0012378	Fatigue	5979	RET	ORPHA:276621
HP:0012378	Fatigue	5979	RET	ORPHA:29072
HP:0012378	Fatigue	1788	DNMT3A	ORPHA:276621
HP:0012378	Fatigue	2034	EPAS1	ORPHA:276621
HP:0012378	Fatigue	6392	SDHD	ORPHA:276621
HP:0012378	Fatigue	6392	SDHD	ORPHA:29072
HP:0012378	Fatigue	6390	SDHB	ORPHA:276621
HP:0012378	Fatigue	6390	SDHB	ORPHA:29072
HP:0012378	Fatigue	6390	SDHB	ORPHA:44890
HP:0012378	Fatigue	83550	GPR101	ORPHA:963
HP:0012378	Fatigue	1277	COL1A1	ORPHA:287
HP:0012378	Fatigue	1289	COL5A1	ORPHA:287
HP:0012378	Fatigue	1290	COL5A2	ORPHA:287
HP:0012378	Fatigue	1175	AP2S1	OMIM:600740
HP:0012378	Fatigue	57190	SELENON	ORPHA:2020
HP:0012378	Fatigue	58	ACTA1	ORPHA:2020
HP:0012378	Fatigue	4633	MYL2	ORPHA:2020
HP:0012378	Fatigue	3679	ITGA7	ORPHA:2020
HP:0012378	Fatigue	7169	TPM2	ORPHA:2020
HP:0012378	Fatigue	9200	HACD1	ORPHA:2020
HP:0012378	Fatigue	7170	TPM3	ORPHA:2020
HP:0012378	Fatigue	51776	MAP3K20	ORPHA:2020
HP:0012378	Fatigue	5528	PPP2R5D	OMIM:616355
HP:0012378	Fatigue	25942	SIN3A	OMIM:613406
HP:0012378	Fatigue	10370	CITED2	ORPHA:99105
HP:0012378	Fatigue	10370	CITED2	ORPHA:99103
HP:0012378	Fatigue	7092	TLL1	ORPHA:99106
HP:0012378	Fatigue	7092	TLL1	ORPHA:99103
HP:0012378	Fatigue	10019	SH2B3	OMIM:133100
HP:0012378	Fatigue	2057	EPOR	OMIM:133100
HP:0012378	Fatigue	2057	EPOR	ORPHA:90042
HP:0012378	Fatigue	1244	ABCC2	ORPHA:234
HP:0012378	Fatigue	595	CCND1	ORPHA:52416
HP:0012378	Fatigue	595	CCND1	ORPHA:29073
HP:0012378	Fatigue	472	ATM	ORPHA:52416
HP:0012378	Fatigue	3492	IGH	ORPHA:52416
HP:0012378	Fatigue	3492	IGH	ORPHA:52417
HP:0012378	Fatigue	3492	IGH	ORPHA:545
HP:0012378	Fatigue	1621	DBH	ORPHA:230
HP:0012378	Fatigue	330	BIRC3	ORPHA:52417
HP:0012378	Fatigue	10892	MALT1	ORPHA:52417
HP:0012378	Fatigue	27086	FOXP1	ORPHA:52417
HP:0012378	Fatigue	8915	BCL10	ORPHA:52417
HP:0012378	Fatigue	8074	FGF23	ORPHA:89937
HP:0012378	Fatigue	213	ALB	OMIM:616000
HP:0012378	Fatigue	213	ALB	ORPHA:86816
HP:0012378	Fatigue	5626	PROP1	ORPHA:226307
HP:0012378	Fatigue	5626	PROP1	ORPHA:95494
HP:0012378	Fatigue	5626	PROP1	ORPHA:90695
HP:0012378	Fatigue	89884	LHX4	ORPHA:226307
HP:0012378	Fatigue	89884	LHX4	ORPHA:95494
HP:0012378	Fatigue	8022	LHX3	ORPHA:226307
HP:0012378	Fatigue	5449	POU1F1	ORPHA:226307
HP:0012378	Fatigue	5449	POU1F1	ORPHA:95494
HP:0012378	Fatigue	8820	HESX1	ORPHA:226307
HP:0012378	Fatigue	8820	HESX1	ORPHA:95494
HP:0012378	Fatigue	8820	HESX1	ORPHA:3157
HP:0012378	Fatigue	10068	IL18BP	OMIM:618549
HP:0012378	Fatigue	51604	PIGT	OMIM:615399
HP:0012378	Fatigue	1743	DLST	ORPHA:29072
HP:0012378	Fatigue	4191	MDH2	ORPHA:29072
HP:0012378	Fatigue	6389	SDHA	ORPHA:29072
HP:0012378	Fatigue	6389	SDHA	OMIM:619259
HP:0012378	Fatigue	6389	SDHA	ORPHA:44890
HP:0012378	Fatigue	23095	KIF1B	ORPHA:29072
HP:0012378	Fatigue	2271	FH	ORPHA:29072
HP:0012378	Fatigue	8402	SLC25A11	ORPHA:29072
HP:0012378	Fatigue	54949	SDHAF2	ORPHA:29072
HP:0012378	Fatigue	55654	TMEM127	ORPHA:29072
HP:0012378	Fatigue	4763	NF1	ORPHA:29072
HP:0012378	Fatigue	6391	SDHC	ORPHA:29072
HP:0012378	Fatigue	6391	SDHC	ORPHA:44890
HP:0012378	Fatigue	4149	MAX	ORPHA:29072
HP:0012378	Fatigue	79798	ARMC5	OMIM:615954
HP:0012378	Fatigue	7454	WAS	ORPHA:906
HP:0012378	Fatigue	7456	WIPF1	ORPHA:906
HP:0012378	Fatigue	81031	SLC2A10	ORPHA:3342
HP:0012378	Fatigue	1493	CTLA4	ORPHA:900
HP:0012378	Fatigue	3115	HLA-DPB1	ORPHA:900
HP:0012378	Fatigue	3115	HLA-DPB1	ORPHA:133
HP:0012378	Fatigue	5657	PRTN3	ORPHA:900
HP:0012378	Fatigue	3113	HLA-DPA1	ORPHA:900
HP:0012378	Fatigue	6329	SCN4A	ORPHA:99734
HP:0012378	Fatigue	2736	GLI2	ORPHA:95494
HP:0012378	Fatigue	3170	FOXA2	ORPHA:95494
HP:0012378	Fatigue	5015	OTX2	ORPHA:95494
HP:0012378	Fatigue	5015	OTX2	ORPHA:3157
HP:0012378	Fatigue	2908	NR3C1	OMIM:615962
HP:0012378	Fatigue	2908	NR3C1	ORPHA:786
HP:0012378	Fatigue	4665	NAB2	ORPHA:2126
HP:0012378	Fatigue	6778	STAT6	ORPHA:2126
HP:0012378	Fatigue	866	SERPINA6	OMIM:611489
HP:0012378	Fatigue	6901	TAFAZZIN	OMIM:302060
HP:0012378	Fatigue	3662	IRF4	ORPHA:3452
HP:0012378	Fatigue	9493	KIF23	ORPHA:98870
HP:0012378	Fatigue	29127	RACGAP1	ORPHA:98870
HP:0012378	Fatigue	695	BTK	ORPHA:47
HP:0012378	Fatigue	5339	PLEC	ORPHA:257
HP:0012378	Fatigue	34	ACADM	ORPHA:42
HP:0012378	Fatigue	84868	HAVCR2	ORPHA:86884
HP:0012378	Fatigue	6572	SLC18A3	OMIM:617239
HP:0012378	Fatigue	859	CAV3	OMIM:123320
HP:0012378	Fatigue	162417	NAGS	ORPHA:927
HP:0012378	Fatigue	654	BMP6	ORPHA:465508
HP:0012378	Fatigue	3077	HFE	ORPHA:465508
HP:0012378	Fatigue	6583	SLC22A4	OMIM:180300
HP:0012378	Fatigue	4261	CIITA	OMIM:180300
HP:0012378	Fatigue	51744	CD244	OMIM:180300
HP:0012378	Fatigue	4795	NFKBIL1	OMIM:180300
HP:0012378	Fatigue	3586	IL10	OMIM:180300
HP:0012378	Fatigue	3586	IL10	ORPHA:117
HP:0012378	Fatigue	25978	CHMP2B	ORPHA:803
HP:0012378	Fatigue	3178	HNRNPA1	ORPHA:803
HP:0012378	Fatigue	8148	TAF15	ORPHA:803
HP:0012378	Fatigue	5445	PON2	ORPHA:803
HP:0012378	Fatigue	9217	VAPB	ORPHA:803
HP:0012378	Fatigue	8878	SQSTM1	ORPHA:803
HP:0012378	Fatigue	5630	PRPH	ORPHA:803
HP:0012378	Fatigue	29110	TBK1	ORPHA:803
HP:0012378	Fatigue	29110	TBK1	ORPHA:1930
HP:0012378	Fatigue	55830	GLT8D1	ORPHA:803
HP:0012378	Fatigue	755	CFAP410	ORPHA:803
HP:0012378	Fatigue	10891	PPARGC1A	ORPHA:803
HP:0012378	Fatigue	6647	SOD1	ORPHA:803
HP:0012378	Fatigue	10133	OPTN	ORPHA:803
HP:0012378	Fatigue	1639	DCTN1	ORPHA:803
HP:0012378	Fatigue	9896	FIG4	ORPHA:803
HP:0012378	Fatigue	5444	PON1	ORPHA:803
HP:0012378	Fatigue	5446	PON3	ORPHA:803
HP:0012378	Fatigue	4744	NEFH	ORPHA:803
HP:0012378	Fatigue	5216	PFN1	ORPHA:803
HP:0012378	Fatigue	9782	MATR3	ORPHA:803
HP:0012378	Fatigue	54209	TREM2	ORPHA:803
HP:0012378	Fatigue	7415	VCP	ORPHA:803
HP:0012378	Fatigue	283	ANG	ORPHA:803
HP:0012378	Fatigue	23435	TARDBP	ORPHA:803
HP:0012378	Fatigue	29978	UBQLN2	ORPHA:803
HP:0012378	Fatigue	2733	GLE1	ORPHA:803
HP:0012378	Fatigue	2521	FUS	ORPHA:803
HP:0012378	Fatigue	4750	NEK1	ORPHA:803
HP:0012378	Fatigue	2043	EPHA4	ORPHA:803
HP:0012378	Fatigue	6311	ATXN2	ORPHA:803
HP:0012378	Fatigue	1610	DAO	ORPHA:803
HP:0012378	Fatigue	2066	ERBB4	ORPHA:803
HP:0012378	Fatigue	311	ANXA11	ORPHA:803
HP:0012378	Fatigue	23025	UNC13A	ORPHA:803
HP:0012378	Fatigue	899	CCNF	ORPHA:803
HP:0012378	Fatigue	400916	CHCHD10	ORPHA:803
HP:0012378	Fatigue	3514	IGKC	ORPHA:183675
HP:0012378	Fatigue	3501	IGHG2	ORPHA:183675
HP:0012378	Fatigue	5837	PYGM	ORPHA:368
HP:0012378	Fatigue	7201	TRHR	ORPHA:99832
HP:0012378	Fatigue	7201	TRHR	OMIM:618573
HP:0012378	Fatigue	4615	MYD88	ORPHA:33226
HP:0012378	Fatigue	2629	GBA1	ORPHA:77261
HP:0012378	Fatigue	55023	PHIP	ORPHA:589905
HP:0012378	Fatigue	10568	SLC34A2	ORPHA:60025
HP:0012378	Fatigue	5256	PHKA2	ORPHA:264580
HP:0012378	Fatigue	5256	PHKA2	OMIM:306000
HP:0012378	Fatigue	5261	PHKG2	ORPHA:264580
HP:0012378	Fatigue	6658	SOX3	ORPHA:90695
HP:0012378	Fatigue	6658	SOX3	ORPHA:3157
HP:0012378	Fatigue	2068	ERCC2	ORPHA:910
HP:0012378	Fatigue	7507	XPA	ORPHA:910
HP:0012378	Fatigue	2071	ERCC3	ORPHA:910
HP:0012378	Fatigue	7508	XPC	ORPHA:910
HP:0012378	Fatigue	1643	DDB2	ORPHA:910
HP:0012378	Fatigue	2072	ERCC4	ORPHA:910
HP:0012378	Fatigue	2073	ERCC5	ORPHA:910
HP:0012378	Fatigue	6929	TCF3	ORPHA:33110
HP:0012378	Fatigue	973	CD79A	ORPHA:33110
HP:0012378	Fatigue	974	CD79B	ORPHA:33110
HP:0012378	Fatigue	3543	IGLL1	ORPHA:33110
HP:0012378	Fatigue	3507	IGHM	ORPHA:33110
HP:0012378	Fatigue	29760	BLNK	ORPHA:33110
HP:0012378	Fatigue	5295	PIK3R1	ORPHA:33110
HP:0012378	Fatigue	56262	LRRC8A	ORPHA:33110
HP:0012378	Fatigue	149233	IL23R	ORPHA:117
HP:0012378	Fatigue	6775	STAT4	ORPHA:117
HP:0012378	Fatigue	4210	MEFV	ORPHA:117
HP:0012378	Fatigue	1230	CCR1	ORPHA:117
HP:0012378	Fatigue	355	FAS	ORPHA:117
HP:0012378	Fatigue	3592	IL12A	ORPHA:117
HP:0012378	Fatigue	3592	IL12A	ORPHA:186
HP:0012378	Fatigue	101928376	IL12A-AS1	ORPHA:117
HP:0012378	Fatigue	7099	TLR4	ORPHA:117
HP:0012378	Fatigue	3459	IFNGR1	ORPHA:117
HP:0012378	Fatigue	720	C4A	ORPHA:117
HP:0012378	Fatigue	337867	UBAC2	ORPHA:117
HP:0012378	Fatigue	51752	ERAP1	ORPHA:117
HP:0012378	Fatigue	8302	KLRC4	ORPHA:117
HP:0012378	Fatigue	7187	TRAF3	ORPHA:1930
HP:0012378	Fatigue	81622	UNC93B1	ORPHA:1930
HP:0012378	Fatigue	148022	TICAM1	ORPHA:1930
HP:0012378	Fatigue	7098	TLR3	ORPHA:1930
HP:0012378	Fatigue	291	SLC25A4	ORPHA:254892
HP:0012378	Fatigue	291	SLC25A4	OMIM:615418
HP:0012378	Fatigue	5428	POLG	ORPHA:254892
HP:0012378	Fatigue	56652	TWNK	ORPHA:254892
HP:0012378	Fatigue	56652	TWNK	OMIM:609286
HP:0012378	Fatigue	11232	POLG2	ORPHA:254892
HP:0012378	Fatigue	3155	HMGCL	ORPHA:20
HP:0012378	Fatigue	9842	PLEKHM1	OMIM:618107
HP:0012378	Fatigue	6261	RYR1	ORPHA:466650
HP:0012378	Fatigue	6571	SLC18A2	ORPHA:352649
HP:0012378	Fatigue	6571	SLC18A2	OMIM:618049
HP:0012378	Fatigue	596	BCL2	ORPHA:545
HP:0012378	Fatigue	604	BCL6	ORPHA:545
HP:0012378	Fatigue	58484	NLRC4	OMIM:616050
HP:0012378	Fatigue	7317	UBA1	OMIM:301054
HP:0012378	Fatigue	22880	MORC2	ORPHA:466768
HP:0012378	Fatigue	5774	PTPN3	ORPHA:70567
HP:0012378	Fatigue	59067	IL21	OMIM:615767
HP:0012378	Fatigue	7248	TSC1	ORPHA:538
HP:0012378	Fatigue	7249	TSC2	ORPHA:538
HP:0012378	Fatigue	3930	LBR	ORPHA:779
HP:0012378	Fatigue	1991	ELANE	ORPHA:2686
HP:0012378	Fatigue	7849	PAX8	ORPHA:95720
HP:0012378	Fatigue	7849	PAX8	ORPHA:95713
HP:0012378	Fatigue	7253	TSHR	ORPHA:95720
HP:0012378	Fatigue	7253	TSHR	ORPHA:95713
HP:0012378	Fatigue	5172	SLC26A4	ORPHA:95720
HP:0012378	Fatigue	5172	SLC26A4	ORPHA:95713
HP:0012378	Fatigue	10059	DNM1L	ORPHA:98673
HP:0012378	Fatigue	4976	OPA1	ORPHA:98673
HP:0012378	Fatigue	4976	OPA1	ORPHA:1215
HP:0012378	Fatigue	10320	IKZF1	ORPHA:36426
HP:0012378	Fatigue	3039	HBA1	ORPHA:98791
HP:0012378	Fatigue	3040	HBA2	ORPHA:98791
HP:0012378	Fatigue	27235	COQ2	OMIM:607426
HP:0012378	Fatigue	55240	STEAP3	ORPHA:300298
HP:0012378	Fatigue	8867	SYNJ1	OMIM:615530
HP:0012378	Fatigue	8867	SYNJ1	ORPHA:391411
HP:0012378	Fatigue	79572	ATP13A3	OMIM:265400
HP:0012378	Fatigue	6331	SCN5A	ORPHA:1344
HP:0012378	Fatigue	4878	NPPA	ORPHA:1344
HP:0012378	Fatigue	7080	NKX2-1	ORPHA:95713
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:95713
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:99103
HP:0012378	Fatigue	2304	FOXE1	ORPHA:95713
HP:0012378	Fatigue	708	C1QBP	OMIM:617713
HP:0012378	Fatigue	5257	PHKB	ORPHA:79240
HP:0012378	Fatigue	55750	AGK	OMIM:212350
HP:0012378	Fatigue	2717	GLA	ORPHA:324
HP:0012378	Fatigue	4566	MT-TK	ORPHA:1349
HP:0012378	Fatigue	212	ALAS2	ORPHA:75563
HP:0012378	Fatigue	538	ATP7A	ORPHA:565
HP:0012378	Fatigue	55863	TMEM126B	OMIM:618250
HP:0012378	Fatigue	3643	INSR	ORPHA:263458
HP:0012378	Fatigue	3172	HNF4A	ORPHA:263455
HP:0012378	Fatigue	546	ATRX	ORPHA:231401
HP:0012378	Fatigue	146206	CARMIL2	OMIM:618131
HP:0012378	Fatigue	55340	GIMAP5	OMIM:619463
HP:0012378	Fatigue	1756	DMD	ORPHA:98895
HP:0012378	Fatigue	56244	BTNL2	ORPHA:797
HP:0012378	Fatigue	57057	TBX20	ORPHA:99103
HP:0012378	Fatigue	4624	MYH6	ORPHA:99103
HP:0012378	Fatigue	70	ACTC1	ORPHA:99103
HP:0012378	Fatigue	2626	GATA4	ORPHA:99103
HP:0012378	Fatigue	2627	GATA6	ORPHA:99103
HP:0012378	Fatigue	84265	POLR3GL	OMIM:619234
HP:0012378	Fatigue	55791	LRIF1	OMIM:619477
HP:0012378	Fatigue	6711	SPTBN1	OMIM:619475
HP:0012378	Fatigue	2643	GCH1	ORPHA:98808
HP:0012378	Fatigue	4929	NR4A2	ORPHA:98808
HP:0012378	Fatigue	3615	IMPDH2	ORPHA:98808
HP:0012378	Fatigue	7528	YY1	ORPHA:97279
HP:0012378	Fatigue	7036	TFR2	OMIM:604250
HP:0012378	Fatigue	9829	DNAJC6	ORPHA:391411
HP:0012378	Fatigue	5420	PODXL	ORPHA:391411
HP:0012378	Fatigue	1298	COL9A2	OMIM:600204
HP:0012378	Fatigue	7204	TRIO	OMIM:617061
HP:0012378	Fatigue	3594	IL12RB1	ORPHA:186
HP:0012378	Fatigue	23534	TNPO3	ORPHA:186
HP:0012378	Fatigue	6689	SPIB	ORPHA:186
HP:0012378	Fatigue	5450	POU2AF1	ORPHA:186
HP:0012378	Fatigue	9966	TNFSF15	ORPHA:186
HP:0012378	Fatigue	79258	MMEL1	ORPHA:186
HP:0012378	Fatigue	3663	IRF5	ORPHA:186
HP:0012378	Fatigue	128240	NAXE	OMIM:617186
HP:0012378	Fatigue	3075	CFH	ORPHA:244242
HP:0012378	Fatigue	3426	CFI	ORPHA:244242
HP:0012378	Fatigue	4179	CD46	ORPHA:244242
HP:0012378	Fatigue	101101692	HELLPAR	ORPHA:244242
HP:0012378	Fatigue	5294	PIK3CG	OMIM:619802
HP:0012378	Fatigue	6519	SLC3A1	ORPHA:163690
HP:0012378	Fatigue	9581	PREPL	ORPHA:163690
HP:0012378	Fatigue	2645	GCK	ORPHA:79299
HP:0012378	Fatigue	9095	TBX19	ORPHA:199296
HP:0012378	Fatigue	9365	KL	OMIM:617994
HP:0012378	Fatigue	5156	PDGFRA	ORPHA:44890
HP:0012378	Fatigue	55624	POMGNT1	OMIM:613157
HP:0012378	Fatigue	5236	PGM1	OMIM:614921
HP:0012378	Fatigue	27249	MMADHC	ORPHA:79283
HP:0012378	Fatigue	6340	SCNN1G	ORPHA:526
HP:0012378	Fatigue	6338	SCNN1B	ORPHA:526
HP:0012378	Fatigue	6337	SCNN1A	ORPHA:526
HP:0012378	Fatigue	3593	IL12B	ORPHA:3287
HP:0012378	Fatigue	6945	MLX	ORPHA:3287
HP:0012378	Fatigue	613	BCR	ORPHA:521
HP:0012378	Fatigue	25	ABL1	ORPHA:521
HP:0012378	Fatigue	6774	STAT3	ORPHA:520
HP:0012378	Fatigue	5371	PML	ORPHA:520
HP:0012378	Fatigue	5914	RARA	ORPHA:520
HP:0012378	Fatigue	359948	IRF2BP2	ORPHA:520
HP:0012378	Fatigue	81608	FIP1L1	ORPHA:520
HP:0012378	Fatigue	4869	NPM1	ORPHA:520
HP:0012378	Fatigue	5573	PRKAR1A	ORPHA:520
HP:0012378	Fatigue	54880	BCOR	ORPHA:520
HP:0012378	Fatigue	64859	NABP1	ORPHA:520
HP:0012378	Fatigue	6777	STAT5B	ORPHA:520
HP:0012378	Fatigue	4926	NUMA1	ORPHA:520
HP:0012378	Fatigue	7704	ZBTB16	ORPHA:520
HP:0012378	Fatigue	79718	TBL1XR1	ORPHA:520
HP:0012378	Fatigue	3839	KPNA3	ORPHA:171612
HP:0012378	Fatigue	2512	FTL	ORPHA:254704
HP:0012378	Fatigue	115286	SLC25A26	OMIM:616794
HP:0012378	Fatigue	341208	HEPHL1	OMIM:261990
HP:0012378	Fatigue	9051	PSTPIP1	ORPHA:69126
HP:0012378	Fatigue	6559	SLC12A3	OMIM:263800
HP:0012378	Fatigue	2260	FGFR1	ORPHA:3157
HP:0012378	Fatigue	128674	PROKR2	ORPHA:3157
HP:0012378	Fatigue	6657	SOX2	ORPHA:3157
HP:0012378	Fatigue	9915	ARNT2	ORPHA:3157
HP:0012378	Fatigue	50640	PNPLA8	OMIM:251950
HP:0012378	Fatigue	6521	SLC4A1	ORPHA:3202
HP:0012378	Fatigue	9780	PIEZO1	ORPHA:3202
HP:0012378	Fatigue	3783	KCNN4	ORPHA:3202
HP:0012378	Fatigue	4088	SMAD3	ORPHA:284984
HP:0012378	Fatigue	4088	SMAD3	OMIM:613795
HP:0012378	Fatigue	7084	TK2	ORPHA:254875
HP:0012378	Fatigue	114548	NLRP3	OMIM:191900
HP:0012378	Fatigue	10625	IVNS1ABP	OMIM:618969
HP:0012378	Fatigue	4194	MDM4	OMIM:618849
HP:0012378	Fatigue	4087	SMAD2	OMIM:619656
HP:0012378	Fatigue	8659	ALDH4A1	ORPHA:79101
HP:0012378	Fatigue	56246	MRAP	ORPHA:361
HP:0012378	Fatigue	6770	STAR	ORPHA:361
HP:0012378	Fatigue	4158	MC2R	ORPHA:361
HP:0012378	Fatigue	23530	NNT	ORPHA:361
HP:0012378	Fatigue	10587	TXNRD2	ORPHA:361
HP:0012378	Fatigue	440275	EIF2AK4	OMIM:234810
HP:0012378	Fatigue	672	BRCA1	ORPHA:1333
HP:0012378	Fatigue	285282	RABL3	ORPHA:1333
HP:0012378	Fatigue	7157	TP53	ORPHA:1333
HP:0012378	Fatigue	675	BRCA2	ORPHA:1333
HP:0012378	Fatigue	3845	KRAS	ORPHA:1333
HP:0012378	Fatigue	1029	CDKN2A	ORPHA:1333
HP:0012378	Fatigue	79728	PALB2	ORPHA:1333
HP:0012378	Fatigue	4089	SMAD4	ORPHA:1333
HP:0012378	Fatigue	23022	PALLD	ORPHA:1333
HP:0012378	Fatigue	5660	PSAP	OMIM:610539
HP:0012379	Abnormal circulating enzyme concentration or activity	4535	MT-ND1	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4536	MT-ND2	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4537	MT-ND3	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4538	MT-ND4	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4567	MT-TL1	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4578	MT-TW	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4577	MT-TV	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4508	MT-ATP6	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4540	MT-ND5	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4541	MT-ND6	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4566	MT-TK	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4967	OGDH	ORPHA:31
HP:0012379	Abnormal circulating enzyme concentration or activity	875	CBS	ORPHA:394
HP:0012379	Abnormal circulating enzyme concentration or activity	26235	FBXL4	OMIM:615471
HP:0012379	Abnormal circulating enzyme concentration or activity	229	ALDOB	OMIM:229600
HP:0012379	Abnormal circulating enzyme concentration or activity	55532	SLC30A10	ORPHA:309854
HP:0012379	Abnormal circulating enzyme concentration or activity	55532	SLC30A10	OMIM:613280
HP:0012379	Abnormal circulating enzyme concentration or activity	1161	ERCC8	ORPHA:90324
HP:0012379	Abnormal circulating enzyme concentration or activity	1161	ERCC8	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	2074	ERCC6	ORPHA:90324
HP:0012379	Abnormal circulating enzyme concentration or activity	2074	ERCC6	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	60684	TRAPPC11	OMIM:615356
HP:0012379	Abnormal circulating enzyme concentration or activity	60684	TRAPPC11	ORPHA:369840
HP:0012379	Abnormal circulating enzyme concentration or activity	7355	SLC35A2	ORPHA:356961
HP:0012379	Abnormal circulating enzyme concentration or activity	57539	WDR35	OMIM:613610
HP:0012379	Abnormal circulating enzyme concentration or activity	80270	HSD3B7	ORPHA:79301
HP:0012379	Abnormal circulating enzyme concentration or activity	80270	HSD3B7	OMIM:607765
HP:0012379	Abnormal circulating enzyme concentration or activity	2072	ERCC4	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	2072	ERCC4	OMIM:610965
HP:0012379	Abnormal circulating enzyme concentration or activity	6718	AKR1D1	ORPHA:79303
HP:0012379	Abnormal circulating enzyme concentration or activity	6718	AKR1D1	OMIM:235555
HP:0012379	Abnormal circulating enzyme concentration or activity	79848	CSPP1	ORPHA:397715
HP:0012379	Abnormal circulating enzyme concentration or activity	9786	KIAA0586	ORPHA:397715
HP:0012379	Abnormal circulating enzyme concentration or activity	6729	SRP54	OMIM:618752
HP:0012379	Abnormal circulating enzyme concentration or activity	6729	SRP54	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	6729	SRP54	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	162	AP1B1	OMIM:242150
HP:0012379	Abnormal circulating enzyme concentration or activity	79947	DHDDS	OMIM:613861
HP:0012379	Abnormal circulating enzyme concentration or activity	9200	HACD1	OMIM:619967
HP:0012379	Abnormal circulating enzyme concentration or activity	55768	NGLY1	ORPHA:404454
HP:0012379	Abnormal circulating enzyme concentration or activity	55768	NGLY1	OMIM:615273
HP:0012379	Abnormal circulating enzyme concentration or activity	134218	DNAJC21	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	134218	DNAJC21	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	79631	EFL1	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	51119	SBDS	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	51119	SBDS	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:143500
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:606785
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:218800
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	OMIM:203700
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	1890	TYMP	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	3980	LIG3	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	50484	RRM2B	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	50484	RRM2B	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	25839	COG4	ORPHA:263501
HP:0012379	Abnormal circulating enzyme concentration or activity	25839	COG4	OMIM:613489
HP:0012379	Abnormal circulating enzyme concentration or activity	1738	DLD	ORPHA:2394
HP:0012379	Abnormal circulating enzyme concentration or activity	1738	DLD	OMIM:246900
HP:0012379	Abnormal circulating enzyme concentration or activity	60561	RINT1	OMIM:618641
HP:0012379	Abnormal circulating enzyme concentration or activity	2859	GPR35	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	10507	SEMA4D	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	4485	MST1	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	6925	TCF4	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	5896	RAG1	ORPHA:331206
HP:0012379	Abnormal circulating enzyme concentration or activity	5897	RAG2	ORPHA:331206
HP:0012379	Abnormal circulating enzyme concentration or activity	2538	G6PC1	OMIM:232200
HP:0012379	Abnormal circulating enzyme concentration or activity	22897	CEP164	OMIM:614845
HP:0012379	Abnormal circulating enzyme concentration or activity	3117	HLA-DQA1	OMIM:212750
HP:0012379	Abnormal circulating enzyme concentration or activity	3119	HLA-DQB1	OMIM:212750
HP:0012379	Abnormal circulating enzyme concentration or activity	7840	ALMS1	OMIM:203800
HP:0012379	Abnormal circulating enzyme concentration or activity	7840	ALMS1	ORPHA:64
HP:0012379	Abnormal circulating enzyme concentration or activity	1716	DGUOK	OMIM:251880
HP:0012379	Abnormal circulating enzyme concentration or activity	1716	DGUOK	OMIM:617068
HP:0012379	Abnormal circulating enzyme concentration or activity	10555	AGPAT2	OMIM:608594
HP:0012379	Abnormal circulating enzyme concentration or activity	1130	LYST	ORPHA:167
HP:0012379	Abnormal circulating enzyme concentration or activity	9377	COX5A	OMIM:619064
HP:0012379	Abnormal circulating enzyme concentration or activity	9131	AIFM1	OMIM:310490
HP:0012379	Abnormal circulating enzyme concentration or activity	4598	MVK	OMIM:610377
HP:0012379	Abnormal circulating enzyme concentration or activity	51021	MRPS16	OMIM:610498
HP:0012379	Abnormal circulating enzyme concentration or activity	63894	VIPAS39	OMIM:613404
HP:0012379	Abnormal circulating enzyme concentration or activity	28976	ACAD9	ORPHA:99901
HP:0012379	Abnormal circulating enzyme concentration or activity	28976	ACAD9	OMIM:611126
HP:0012379	Abnormal circulating enzyme concentration or activity	788	SLC25A20	ORPHA:159
HP:0012379	Abnormal circulating enzyme concentration or activity	788	SLC25A20	OMIM:212138
HP:0012379	Abnormal circulating enzyme concentration or activity	5373	PMM2	OMIM:212065
HP:0012379	Abnormal circulating enzyme concentration or activity	5373	PMM2	ORPHA:79318
HP:0012379	Abnormal circulating enzyme concentration or activity	1798	DPAGT1	ORPHA:86309
HP:0012379	Abnormal circulating enzyme concentration or activity	1798	DPAGT1	OMIM:608093
HP:0012379	Abnormal circulating enzyme concentration or activity	9056	SLC7A7	ORPHA:470
HP:0012379	Abnormal circulating enzyme concentration or activity	51594	NBAS	OMIM:616483
HP:0012379	Abnormal circulating enzyme concentration or activity	11277	TREX1	OMIM:192315
HP:0012379	Abnormal circulating enzyme concentration or activity	11277	TREX1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	11277	TREX1	OMIM:225750
HP:0012379	Abnormal circulating enzyme concentration or activity	54914	FOCAD	OMIM:619991
HP:0012379	Abnormal circulating enzyme concentration or activity	2677	GGCX	OMIM:277450
HP:0012379	Abnormal circulating enzyme concentration or activity	10068	IL18BP	OMIM:618549
HP:0012379	Abnormal circulating enzyme concentration or activity	5566	PRKACA	ORPHA:189439
HP:0012379	Abnormal circulating enzyme concentration or activity	8622	PDE8B	ORPHA:189439
HP:0012379	Abnormal circulating enzyme concentration or activity	5573	PRKAR1A	ORPHA:189439
HP:0012379	Abnormal circulating enzyme concentration or activity	50940	PDE11A	ORPHA:189439
HP:0012379	Abnormal circulating enzyme concentration or activity	2321	FLT1	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	219736	STOX1	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	10699	CORIN	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	5836	PYGL	OMIM:232700
HP:0012379	Abnormal circulating enzyme concentration or activity	5836	PYGL	ORPHA:369
HP:0012379	Abnormal circulating enzyme concentration or activity	10056	FARSB	OMIM:613658
HP:0012379	Abnormal circulating enzyme concentration or activity	2203	FBP1	ORPHA:348
HP:0012379	Abnormal circulating enzyme concentration or activity	472	ATM	ORPHA:100
HP:0012379	Abnormal circulating enzyme concentration or activity	5551	PRF1	OMIM:603553
HP:0012379	Abnormal circulating enzyme concentration or activity	5551	PRF1	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	6804	STX1A	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	2947	GSTM3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	7040	TGFB1	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	2729	GCLC	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	1084	CEACAM3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	6556	SLC11A1	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	51164	DCTN4	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	3783	KCNN4	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	4282	MIF	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	1909	EDNRA	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	6550	SLC9A3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	115019	SLC26A9	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	11254	SLC6A14	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	5265	SERPINA1	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	5265	SERPINA1	OMIM:613490
HP:0012379	Abnormal circulating enzyme concentration or activity	1080	CFTR	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	22802	CLCA4	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	4680	CEACAM6	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	8818	DPM2	OMIM:615042
HP:0012379	Abnormal circulating enzyme concentration or activity	8818	DPM2	ORPHA:329178
HP:0012379	Abnormal circulating enzyme concentration or activity	7385	UQCRC2	OMIM:615160
HP:0012379	Abnormal circulating enzyme concentration or activity	57169	ZNFX1	OMIM:619644
HP:0012379	Abnormal circulating enzyme concentration or activity	25970	SH2B1	ORPHA:329249
HP:0012379	Abnormal circulating enzyme concentration or activity	8647	ABCB11	ORPHA:69665
HP:0012379	Abnormal circulating enzyme concentration or activity	182	JAG1	OMIM:118450
HP:0012379	Abnormal circulating enzyme concentration or activity	23175	LPIN1	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	4512	MT-CO1	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	4514	MT-CO3	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	6392	SDHD	ORPHA:100093
HP:0012379	Abnormal circulating enzyme concentration or activity	51128	SAR1B	ORPHA:71
HP:0012379	Abnormal circulating enzyme concentration or activity	57104	PNPLA2	OMIM:610717
HP:0012379	Abnormal circulating enzyme concentration or activity	57104	PNPLA2	ORPHA:98908
HP:0012379	Abnormal circulating enzyme concentration or activity	9968	MED12	OMIM:301068
HP:0012379	Abnormal circulating enzyme concentration or activity	9493	KIF23	ORPHA:98870
HP:0012379	Abnormal circulating enzyme concentration or activity	29127	RACGAP1	ORPHA:98870
HP:0012379	Abnormal circulating enzyme concentration or activity	4846	NOS3	OMIM:189800
HP:0012379	Abnormal circulating enzyme concentration or activity	8813	DPM1	OMIM:608799
HP:0012379	Abnormal circulating enzyme concentration or activity	8813	DPM1	ORPHA:79322
HP:0012379	Abnormal circulating enzyme concentration or activity	811	CALR	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	3717	JAK2	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	2153	F5	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	5692	PSMB4	OMIM:617591
HP:0012379	Abnormal circulating enzyme concentration or activity	5698	PSMB9	OMIM:617591
HP:0012379	Abnormal circulating enzyme concentration or activity	125988	MICOS13	OMIM:618329
HP:0012379	Abnormal circulating enzyme concentration or activity	50943	FOXP3	ORPHA:37042
HP:0012379	Abnormal circulating enzyme concentration or activity	5194	PEX13	OMIM:614883
HP:0012379	Abnormal circulating enzyme concentration or activity	3172	HNF4A	OMIM:616026
HP:0012379	Abnormal circulating enzyme concentration or activity	3172	HNF4A	ORPHA:263455
HP:0012379	Abnormal circulating enzyme concentration or activity	57817	HAMP	OMIM:613313
HP:0012379	Abnormal circulating enzyme concentration or activity	57817	HAMP	ORPHA:79230
HP:0012379	Abnormal circulating enzyme concentration or activity	5824	PEX19	OMIM:614886
HP:0012379	Abnormal circulating enzyme concentration or activity	147007	TMEM199	OMIM:616829
HP:0012379	Abnormal circulating enzyme concentration or activity	84317	CCDC115	OMIM:616828
HP:0012379	Abnormal circulating enzyme concentration or activity	2184	FAH	OMIM:276700
HP:0012379	Abnormal circulating enzyme concentration or activity	79087	ALG12	ORPHA:79324
HP:0012379	Abnormal circulating enzyme concentration or activity	79053	ALG8	ORPHA:79325
HP:0012379	Abnormal circulating enzyme concentration or activity	197322	ACSF3	ORPHA:289504
HP:0012379	Abnormal circulating enzyme concentration or activity	1616	DAXX	ORPHA:100075
HP:0012379	Abnormal circulating enzyme concentration or activity	546	ATRX	ORPHA:100075
HP:0012379	Abnormal circulating enzyme concentration or activity	5825	ABCD3	OMIM:616278
HP:0012379	Abnormal circulating enzyme concentration or activity	54344	DPM3	ORPHA:263494
HP:0012379	Abnormal circulating enzyme concentration or activity	54344	DPM3	OMIM:612937
HP:0012379	Abnormal circulating enzyme concentration or activity	51067	YARS2	OMIM:613561
HP:0012379	Abnormal circulating enzyme concentration or activity	5256	PHKA2	ORPHA:264580
HP:0012379	Abnormal circulating enzyme concentration or activity	5256	PHKA2	OMIM:306000
HP:0012379	Abnormal circulating enzyme concentration or activity	5261	PHKG2	ORPHA:264580
HP:0012379	Abnormal circulating enzyme concentration or activity	5261	PHKG2	OMIM:613027
HP:0012379	Abnormal circulating enzyme concentration or activity	284119	CAVIN1	OMIM:613327
HP:0012379	Abnormal circulating enzyme concentration or activity	3242	HPD	OMIM:276710
HP:0012379	Abnormal circulating enzyme concentration or activity	2658	GDF2	OMIM:615506
HP:0012379	Abnormal circulating enzyme concentration or activity	10535	RNASEH2A	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	10535	RNASEH2A	OMIM:610333
HP:0012379	Abnormal circulating enzyme concentration or activity	84153	RNASEH2C	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	84153	RNASEH2C	OMIM:610329
HP:0012379	Abnormal circulating enzyme concentration or activity	25939	SAMHD1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	79621	RNASEH2B	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	103	ADAR	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	100147744	RNU7-1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	100147744	RNU7-1	OMIM:619487
HP:0012379	Abnormal circulating enzyme concentration or activity	134353	LSM11	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	64135	IFIH1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	6309	SC5D	OMIM:607330
HP:0012379	Abnormal circulating enzyme concentration or activity	10159	ATP6AP2	OMIM:301045
HP:0012379	Abnormal circulating enzyme concentration or activity	291	SLC25A4	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	3155	HMGCL	ORPHA:20
HP:0012379	Abnormal circulating enzyme concentration or activity	10466	COG5	ORPHA:263487
HP:0012379	Abnormal circulating enzyme concentration or activity	212	ALAS2	OMIM:300752
HP:0012379	Abnormal circulating enzyme concentration or activity	212	ALAS2	ORPHA:75563
HP:0012379	Abnormal circulating enzyme concentration or activity	22845	DOLK	ORPHA:91131
HP:0012379	Abnormal circulating enzyme concentration or activity	81570	CLPB	ORPHA:445038
HP:0012379	Abnormal circulating enzyme concentration or activity	55593	OTUD5	OMIM:301056
HP:0012379	Abnormal circulating enzyme concentration or activity	8676	STX11	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	201294	UNC13D	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	6813	STXBP2	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	91147	TMEM67	OMIM:216360
HP:0012379	Abnormal circulating enzyme concentration or activity	91147	TMEM67	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	91147	TMEM67	ORPHA:84081
HP:0012379	Abnormal circulating enzyme concentration or activity	55182	RNF220	OMIM:619688
HP:0012379	Abnormal circulating enzyme concentration or activity	29998	BICRA	OMIM:619325
HP:0012379	Abnormal circulating enzyme concentration or activity	51601	LIPT1	OMIM:616299
HP:0012379	Abnormal circulating enzyme concentration or activity	79644	SRD5A3	OMIM:612379
HP:0012379	Abnormal circulating enzyme concentration or activity	79644	SRD5A3	ORPHA:324737
HP:0012379	Abnormal circulating enzyme concentration or activity	10166	SLC25A15	ORPHA:415
HP:0012379	Abnormal circulating enzyme concentration or activity	427	ASAH1	ORPHA:333
HP:0012379	Abnormal circulating enzyme concentration or activity	3106	HLA-B	ORPHA:36426
HP:0012379	Abnormal circulating enzyme concentration or activity	10320	IKZF1	ORPHA:36426
HP:0012379	Abnormal circulating enzyme concentration or activity	22796	COG2	OMIM:617395
HP:0012379	Abnormal circulating enzyme concentration or activity	55240	STEAP3	ORPHA:300298
HP:0012379	Abnormal circulating enzyme concentration or activity	3930	LBR	OMIM:613471
HP:0012379	Abnormal circulating enzyme concentration or activity	51218	GLRX5	OMIM:616860
HP:0012379	Abnormal circulating enzyme concentration or activity	6928	HNF1B	OMIM:137920
HP:0012379	Abnormal circulating enzyme concentration or activity	6928	HNF1B	ORPHA:261265
HP:0012379	Abnormal circulating enzyme concentration or activity	6928	HNF1B	ORPHA:93111
HP:0012379	Abnormal circulating enzyme concentration or activity	7019	TFAM	OMIM:617156
HP:0012379	Abnormal circulating enzyme concentration or activity	11274	USP18	OMIM:617397
HP:0012379	Abnormal circulating enzyme concentration or activity	10616	RBCK1	OMIM:615895
HP:0012379	Abnormal circulating enzyme concentration or activity	708	C1QBP	OMIM:617713
HP:0012379	Abnormal circulating enzyme concentration or activity	5257	PHKB	ORPHA:79240
HP:0012379	Abnormal circulating enzyme concentration or activity	3431	SP110	ORPHA:79124
HP:0012379	Abnormal circulating enzyme concentration or activity	128989	TANGO2	ORPHA:480864
HP:0012379	Abnormal circulating enzyme concentration or activity	128989	TANGO2	OMIM:616878
HP:0012379	Abnormal circulating enzyme concentration or activity	4547	MTTP	ORPHA:14
HP:0012379	Abnormal circulating enzyme concentration or activity	55340	GIMAP5	OMIM:619463
HP:0012379	Abnormal circulating enzyme concentration or activity	57511	COG6	OMIM:614576
HP:0012379	Abnormal circulating enzyme concentration or activity	7289	TULP3	OMIM:619902
HP:0012379	Abnormal circulating enzyme concentration or activity	56623	INPP5E	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	23322	RPGRIP1L	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	57545	CC2D2A	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	57545	CC2D2A	OMIM:619111
HP:0012379	Abnormal circulating enzyme concentration or activity	672	BRCA1	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	285282	RABL3	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	675	BRCA2	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	3845	KRAS	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	1029	CDKN2A	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	79728	PALB2	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	4089	SMAD4	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	23022	PALLD	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	23495	TNFRSF13B	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	4790	NFKB1	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	4791	NFKB2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	115650	TNFRSF13C	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	1380	CR2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	8742	TNFSF12	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	930	CD19	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	29851	ICOS	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	931	MS4A1	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	975	CD81	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	359948	IRF2BP2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	148738	HJV	ORPHA:79230
HP:0012379	Abnormal circulating enzyme concentration or activity	5498	PPOX	ORPHA:79473
HP:0012379	Abnormal circulating enzyme concentration or activity	1756	DMD	ORPHA:98895
HP:0012379	Abnormal circulating enzyme concentration or activity	650	BMP2	OMIM:235200
HP:0012379	Abnormal circulating enzyme concentration or activity	26160	IFT172	OMIM:619471
HP:0012379	Abnormal circulating enzyme concentration or activity	51241	COX16	OMIM:619355
HP:0012379	Abnormal circulating enzyme concentration or activity	3975	LHX1	ORPHA:261265
HP:0012379	Abnormal circulating enzyme concentration or activity	10367	MICU1	OMIM:615673
HP:0012379	Abnormal circulating enzyme concentration or activity	26580	BSCL2	OMIM:269700
HP:0012379	Abnormal circulating enzyme concentration or activity	6711	SPTBN1	OMIM:619475
HP:0012379	Abnormal circulating enzyme concentration or activity	51520	LARS1	OMIM:615438
HP:0012379	Abnormal circulating enzyme concentration or activity	4534	MTM1	OMIM:310400
HP:0012379	Abnormal circulating enzyme concentration or activity	7036	TFR2	OMIM:604250
HP:0012379	Abnormal circulating enzyme concentration or activity	440138	ALG11	ORPHA:280071
HP:0012379	Abnormal circulating enzyme concentration or activity	10651	MTX2	OMIM:619127
HP:0012379	Abnormal circulating enzyme concentration or activity	51124	IER3IP1	OMIM:614231
HP:0012379	Abnormal circulating enzyme concentration or activity	200931	SLC51A	OMIM:619484
HP:0012379	Abnormal circulating enzyme concentration or activity	51816	ADA2	OMIM:615688
HP:0012379	Abnormal circulating enzyme concentration or activity	28957	MRPS28	OMIM:618958
HP:0012379	Abnormal circulating enzyme concentration or activity	3075	CFH	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	3426	CFI	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	4179	CD46	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	101101692	HELLPAR	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	51473	DCDC2	ORPHA:84081
HP:0012379	Abnormal circulating enzyme concentration or activity	2998	GYS2	ORPHA:2089
HP:0012379	Abnormal circulating enzyme concentration or activity	100506658	OCLN	OMIM:251290
HP:0012379	Abnormal circulating enzyme concentration or activity	3033	HADH	ORPHA:71212
HP:0012379	Abnormal circulating enzyme concentration or activity	27232	GNMT	OMIM:606664
HP:0012379	Abnormal circulating enzyme concentration or activity	617	BCS1L	OMIM:124000
HP:0012379	Abnormal circulating enzyme concentration or activity	51	ACOX1	OMIM:264470
HP:0012379	Abnormal circulating enzyme concentration or activity	1650	DDOST	ORPHA:300536
HP:0012379	Abnormal circulating enzyme concentration or activity	2819	GPD1	OMIM:614480
HP:0012379	Abnormal circulating enzyme concentration or activity	1537	CYC1	OMIM:615453
HP:0012379	Abnormal circulating enzyme concentration or activity	2193	FARSA	OMIM:619013
HP:0012379	Abnormal circulating enzyme concentration or activity	178	AGL	OMIM:232400
HP:0012379	Abnormal circulating enzyme concentration or activity	51099	ABHD5	ORPHA:98907
HP:0012379	Abnormal circulating enzyme concentration or activity	5557	PRIM1	OMIM:620005
HP:0012379	Abnormal circulating enzyme concentration or activity	3295	HSD17B4	OMIM:261515
HP:0012379	Abnormal circulating enzyme concentration or activity	10020	GNE	ORPHA:3166
HP:0012379	Abnormal circulating enzyme concentration or activity	8481	OFD1	ORPHA:2750
HP:0012379	Abnormal circulating enzyme concentration or activity	9451	EIF2AK3	ORPHA:1667
HP:0012379	Abnormal circulating enzyme concentration or activity	37	ACADVL	ORPHA:26793
HP:0012379	Abnormal circulating enzyme concentration or activity	4627	MYH9	ORPHA:182050
HP:0012379	Abnormal circulating enzyme concentration or activity	157657	CFAP418	OMIM:617406
HP:0012379	Abnormal circulating enzyme concentration or activity	90523	MLIP	OMIM:620138
HP:0012379	Abnormal circulating enzyme concentration or activity	5696	PSMB8	OMIM:256040
HP:0012379	Abnormal circulating enzyme concentration or activity	22909	FAN1	OMIM:614817
HP:0012379	Abnormal circulating enzyme concentration or activity	4337	MOCS1	OMIM:252150
HP:0012379	Abnormal circulating enzyme concentration or activity	9488	PIGB	OMIM:618580
HP:0012379	Abnormal circulating enzyme concentration or activity	79705	LRRK1	OMIM:615198
HP:0012379	Abnormal circulating enzyme concentration or activity	55503	TRPV6	OMIM:618188
HP:0012379	Abnormal circulating enzyme concentration or activity	10312	TCIRG1	OMIM:259700
HP:0012379	Abnormal circulating enzyme concentration or activity	10312	TCIRG1	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	5279	PIGC	OMIM:617816
HP:0012379	Abnormal circulating enzyme concentration or activity	5745	PTH1R	OMIM:600002
HP:0012379	Abnormal circulating enzyme concentration or activity	5745	PTH1R	OMIM:156400
HP:0012379	Abnormal circulating enzyme concentration or activity	128869	PIGU	OMIM:618590
HP:0012379	Abnormal circulating enzyme concentration or activity	8792	TNFRSF11A	OMIM:174810
HP:0012379	Abnormal circulating enzyme concentration or activity	8792	TNFRSF11A	OMIM:602080
HP:0012379	Abnormal circulating enzyme concentration or activity	10026	PIGK	OMIM:618879
HP:0012379	Abnormal circulating enzyme concentration or activity	120227	CYP2R1	OMIM:600081
HP:0012379	Abnormal circulating enzyme concentration or activity	55650	PIGV	OMIM:239300
HP:0012379	Abnormal circulating enzyme concentration or activity	55650	PIGV	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	56975	FAM20C	OMIM:259775
HP:0012379	Abnormal circulating enzyme concentration or activity	5251	PHEX	OMIM:307800
HP:0012379	Abnormal circulating enzyme concentration or activity	5251	PHEX	ORPHA:89936
HP:0012379	Abnormal circulating enzyme concentration or activity	90	ACVR1	OMIM:135100
HP:0012379	Abnormal circulating enzyme concentration or activity	84992	PIGY	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	84992	PIGY	OMIM:616809
HP:0012379	Abnormal circulating enzyme concentration or activity	84720	PIGO	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	84720	PIGO	OMIM:614749
HP:0012379	Abnormal circulating enzyme concentration or activity	93210	PGAP3	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	93210	PGAP3	OMIM:615716
HP:0012379	Abnormal circulating enzyme concentration or activity	284098	PIGW	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	284098	PIGW	OMIM:616025
HP:0012379	Abnormal circulating enzyme concentration or activity	27315	PGAP2	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	27315	PGAP2	OMIM:614207
HP:0012379	Abnormal circulating enzyme concentration or activity	4982	TNFRSF11B	OMIM:239000
HP:0012379	Abnormal circulating enzyme concentration or activity	1594	CYP27B1	OMIM:264700
HP:0012379	Abnormal circulating enzyme concentration or activity	5277	PIGA	OMIM:300868
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	OMIM:615424
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	OMIM:615426
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	7421	VDR	OMIM:277440
HP:0012379	Abnormal circulating enzyme concentration or activity	3181	HNRNPA2B1	OMIM:615422
HP:0012379	Abnormal circulating enzyme concentration or activity	3181	HNRNPA2B1	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	54872	PIGG	OMIM:616917
HP:0012379	Abnormal circulating enzyme concentration or activity	1576	CYP3A4	OMIM:619073
HP:0012379	Abnormal circulating enzyme concentration or activity	1186	CLCN7	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	9842	PLEKHM1	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	8074	FGF23	ORPHA:89937
HP:0012379	Abnormal circulating enzyme concentration or activity	8074	FGF23	OMIM:193100
HP:0012379	Abnormal circulating enzyme concentration or activity	5311	PKD2	OMIM:613095
HP:0012379	Abnormal circulating enzyme concentration or activity	57003	CCDC47	OMIM:618268
HP:0012379	Abnormal circulating enzyme concentration or activity	142680	SLC34A3	OMIM:241530
HP:0012379	Abnormal circulating enzyme concentration or activity	94005	PIGS	OMIM:618143
HP:0012379	Abnormal circulating enzyme concentration or activity	9091	PIGQ	OMIM:618548
HP:0012379	Abnormal circulating enzyme concentration or activity	5589	PRKCSH	OMIM:174050
HP:0012379	Abnormal circulating enzyme concentration or activity	3594	IL12RB1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	23534	TNPO3	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	3592	IL12A	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	6689	SPIB	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	5450	POU2AF1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	9966	TNFSF15	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	79258	MMEL1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	3663	IRF5	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	8733	GPAA1	ORPHA:529665
HP:0012379	Abnormal circulating enzyme concentration or activity	2628	GATM	OMIM:134600
HP:0012379	Abnormal circulating enzyme concentration or activity	8878	SQSTM1	OMIM:167250
HP:0012379	Abnormal circulating enzyme concentration or activity	7415	VCP	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	7415	VCP	ORPHA:329475
HP:0012379	Abnormal circulating enzyme concentration or activity	50964	SOST	OMIM:122860
HP:0012379	Abnormal circulating enzyme concentration or activity	23387	SIK3	OMIM:618162
HP:0012379	Abnormal circulating enzyme concentration or activity	5167	ENPP1	OMIM:613312
HP:0012379	Abnormal circulating enzyme concentration or activity	63916	ELMO2	OMIM:606893
HP:0012379	Abnormal circulating enzyme concentration or activity	6522	SLC4A2	OMIM:620366
HP:0012379	Abnormal circulating enzyme concentration or activity	166929	SGMS2	OMIM:126550
HP:0012379	Abnormal circulating enzyme concentration or activity	60681	FKBP10	OMIM:610968
HP:0012379	Abnormal circulating enzyme concentration or activity	57592	ZNF687	OMIM:616833
HP:0012379	Abnormal circulating enzyme concentration or activity	4688	NCF2	OMIM:233710
HP:0012379	Abnormal circulating enzyme concentration or activity	133686	NADK2	ORPHA:431361
HP:0012379	Abnormal circulating enzyme concentration or activity	1536	CYBB	OMIM:306400
HP:0012379	Abnormal circulating enzyme concentration or activity	653361	NCF1	OMIM:233700
HP:0012379	Abnormal circulating enzyme concentration or activity	1535	CYBA	OMIM:233690
HP:0012379	Abnormal circulating enzyme concentration or activity	2395	FXN	OMIM:229300
HP:0012379	Abnormal circulating enzyme concentration or activity	27249	MMADHC	OMIM:277410
HP:0012379	Abnormal circulating enzyme concentration or activity	326625	MMAB	OMIM:251110
HP:0012379	Abnormal circulating enzyme concentration or activity	25974	MMACHC	OMIM:277400
HP:0012379	Abnormal circulating enzyme concentration or activity	5052	PRDX1	OMIM:277400
HP:0012379	Abnormal circulating enzyme concentration or activity	166785	MMAA	OMIM:251100
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	ORPHA:411543
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	ORPHA:411536
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	OMIM:300661
HP:0012379	Abnormal circulating enzyme concentration or activity	3029	HAGH	OMIM:614033
HP:0012379	Abnormal circulating enzyme concentration or activity	7372	UMPS	OMIM:258900
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:146300
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:241500
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:241510
HP:0012379	Abnormal circulating enzyme concentration or activity	55630	SLC39A4	OMIM:201100
HP:0012379	Abnormal circulating enzyme concentration or activity	497661	C18orf32	OMIM:619985
HP:0012379	Abnormal circulating enzyme concentration or activity	51604	PIGT	ORPHA:369837
HP:0012379	Abnormal circulating enzyme concentration or activity	2937	GSS	OMIM:266130
HP:0012379	Abnormal circulating enzyme concentration or activity	2937	GSS	OMIM:231900
HP:0012379	Abnormal circulating enzyme concentration or activity	10577	NPC2	OMIM:607625
HP:0012379	Abnormal circulating enzyme concentration or activity	4864	NPC1	OMIM:257220
HP:0012379	Abnormal circulating enzyme concentration or activity	5095	PCCA	ORPHA:35
HP:0012379	Abnormal circulating enzyme concentration or activity	5095	PCCA	OMIM:606054
HP:0012379	Abnormal circulating enzyme concentration or activity	5096	PCCB	ORPHA:35
HP:0012379	Abnormal circulating enzyme concentration or activity	5096	PCCB	OMIM:606054
HP:0012379	Abnormal circulating enzyme concentration or activity	64087	MCCC2	OMIM:210210
HP:0012379	Abnormal circulating enzyme concentration or activity	4552	MTRR	OMIM:236270
HP:0012379	Abnormal circulating enzyme concentration or activity	55788	LMBRD1	OMIM:277380
HP:0012379	Abnormal circulating enzyme concentration or activity	5826	ABCD4	OMIM:614857
HP:0012379	Abnormal circulating enzyme concentration or activity	4548	MTR	OMIM:250940
HP:0012379	Abnormal circulating enzyme concentration or activity	217	ALDH2	OMIM:610251
HP:0012379	Abnormal circulating enzyme concentration or activity	7498	XDH	OMIM:278300
HP:0012379	Abnormal circulating enzyme concentration or activity	2271	FH	OMIM:606812
HP:0012379	Abnormal circulating enzyme concentration or activity	2271	FH	OMIM:150800
HP:0012379	Abnormal circulating enzyme concentration or activity	84572	GNPTG	OMIM:252605
HP:0012379	Abnormal circulating enzyme concentration or activity	79158	GNPTAB	OMIM:252600
HP:0012379	Abnormal circulating enzyme concentration or activity	79158	GNPTAB	OMIM:252500
HP:0012379	Abnormal circulating enzyme concentration or activity	2821	GPI	OMIM:613470
HP:0012379	Abnormal circulating enzyme concentration or activity	4338	MOCS2	OMIM:252160
HP:0012379	Abnormal circulating enzyme concentration or activity	10243	GPHN	OMIM:615501
HP:0012379	Abnormal circulating enzyme concentration or activity	6821	SUOX	OMIM:272300
HP:0012379	Abnormal circulating enzyme concentration or activity	1806	DPYD	OMIM:274270
HP:0012379	Abnormal circulating enzyme concentration or activity	1806	DPYD	ORPHA:1675
HP:0012379	Abnormal circulating enzyme concentration or activity	1807	DPYS	OMIM:222748
HP:0012379	Abnormal circulating enzyme concentration or activity	4247	MGAT2	ORPHA:79329
HP:0012379	Abnormal circulating enzyme concentration or activity	10483	SEC23B	OMIM:224100
HP:0012379	Abnormal circulating enzyme concentration or activity	2629	GBA1	OMIM:231000
HP:0012379	Abnormal circulating enzyme concentration or activity	633	BGN	OMIM:300106
HP:0012379	Abnormal circulating enzyme concentration or activity	6452	SH3BP2	OMIM:118400
HP:0012379	Abnormal circulating enzyme concentration or activity	5281	PIGF	OMIM:619356
HP:0012379	Abnormal circulating enzyme concentration or activity	5283	PIGH	OMIM:618010
HP:0012379	Abnormal circulating enzyme concentration or activity	25	ABL1	OMIM:608232
HP:0012379	Abnormal circulating enzyme concentration or activity	613	BCR	OMIM:608232
HP:0012379	Abnormal circulating enzyme concentration or activity	5053	PAH	OMIM:261600
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:253010
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230650
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230500
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230600
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	ORPHA:79255
HP:0012379	Abnormal circulating enzyme concentration or activity	5476	CTSA	OMIM:256540
HP:0012379	Abnormal circulating enzyme concentration or activity	2582	GALE	OMIM:230350
HP:0012379	Abnormal circulating enzyme concentration or activity	1441	CSF3R	OMIM:162830
HP:0012379	Abnormal circulating enzyme concentration or activity	4883	NPR3	OMIM:619543
HP:0012379	Abnormal circulating enzyme concentration or activity	6569	SLC34A1	ORPHA:157215
HP:0012379	Abnormal circulating enzyme concentration or activity	1758	DMP1	ORPHA:289176
HP:0012379	Abnormal circulating enzyme concentration or activity	368	ABCC6	ORPHA:51608
HP:0012379	Abnormal circulating enzyme concentration or activity	4882	NPR2	OMIM:615923
HP:0012379	Abnormal circulating enzyme concentration or activity	1497	CTNS	ORPHA:411634
HP:0012379	Abnormal circulating enzyme concentration or activity	2099	ESR1	ORPHA:785
HP:0012379	Abnormal circulating enzyme concentration or activity	4524	MTHFR	ORPHA:395
HP:0012379	Abnormal circulating enzyme concentration or activity	10841	FTCD	ORPHA:51208
HP:0012379	Abnormal circulating enzyme concentration or activity	1593	CYP27A1	ORPHA:909
HP:0012379	Abnormal circulating enzyme concentration or activity	3795	KHK	ORPHA:2056
HP:0012379	Abnormal circulating enzyme concentration or activity	8659	ALDH4A1	ORPHA:79101
HP:0012379	Abnormal circulating enzyme concentration or activity	132158	GLYCTK	ORPHA:941
HP:0012379	Abnormal circulating enzyme concentration or activity	415	ARSL	ORPHA:79345
HP:0012379	Abnormal circulating enzyme concentration or activity	10128	LRPPRC	ORPHA:70472
HP:0012379	Abnormal circulating enzyme concentration or activity	85365	ALG2	ORPHA:79326
HP:0012379	Abnormal circulating enzyme concentration or activity	3028	HSD17B10	ORPHA:391457
HP:0012379	Abnormal circulating enzyme concentration or activity	3028	HSD17B10	ORPHA:391428
HP:0012379	Abnormal circulating enzyme concentration or activity	443	ASPA	ORPHA:314918
HP:0012379	Abnormal circulating enzyme concentration or activity	10157	AASS	ORPHA:2203
HP:0012379	Abnormal circulating enzyme concentration or activity	79048	SECISBP2	ORPHA:171706
HP:0012379	Abnormal circulating enzyme concentration or activity	1356	CP	ORPHA:48818
HP:0012379	Abnormal circulating enzyme concentration or activity	8292	COLQ	ORPHA:98915
HP:0012379	Abnormal circulating enzyme concentration or activity	3913	LAMB2	ORPHA:98915
HP:0012379	Abnormal circulating enzyme concentration or activity	353	APRT	ORPHA:976
HP:0012379	Abnormal circulating enzyme concentration or activity	55129	ANO10	ORPHA:284289
HP:0012379	Abnormal circulating enzyme concentration or activity	4351	MPI	ORPHA:79319
HP:0012379	Abnormal circulating enzyme concentration or activity	590	BCHE	ORPHA:132
HP:0012379	Abnormal circulating enzyme concentration or activity	84340	GFM2	ORPHA:565624
HP:0012379	Abnormal circulating enzyme concentration or activity	210	ALAD	ORPHA:100924
HP:0012379	Abnormal circulating enzyme concentration or activity	130589	GALM	ORPHA:570422
HP:0012379	Abnormal circulating enzyme concentration or activity	11181	TREH	ORPHA:103909
HP:0012379	Abnormal circulating enzyme concentration or activity	29958	DMGDH	ORPHA:243343
HP:0012379	Abnormal circulating enzyme concentration or activity	5660	PSAP	ORPHA:206436
HP:0012379	Abnormal circulating enzyme concentration or activity	29929	ALG6	ORPHA:79320
HP:0012379	Abnormal circulating enzyme concentration or activity	10195	ALG3	ORPHA:79321
HP:0012379	Abnormal circulating enzyme concentration or activity	1737	DLAT	ORPHA:79244
HP:0012379	Abnormal circulating enzyme concentration or activity	5351	PLOD1	ORPHA:1900
HP:0012379	Abnormal circulating enzyme concentration or activity	9526	MPDU1	ORPHA:79323
HP:0012379	Abnormal circulating enzyme concentration or activity	10352	WARS2	ORPHA:572798
HP:0012379	Abnormal circulating enzyme concentration or activity	28234	SLCO1B3	ORPHA:3111
HP:0012379	Abnormal circulating enzyme concentration or activity	10599	SLCO1B1	ORPHA:3111
HP:0012379	Abnormal circulating enzyme concentration or activity	3145	HMBS	ORPHA:79276
HP:0012379	Abnormal circulating enzyme concentration or activity	760	CA2	ORPHA:2785
HP:0012379	Abnormal circulating enzyme concentration or activity	11330	CTRC	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	5644	PRSS1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	5645	PRSS2	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	6690	SPINK1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	846	CASR	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	1357	CPA1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	54808	DYM	ORPHA:239
HP:0012379	Abnormal circulating enzyme concentration or activity	2584	GALK1	ORPHA:79237
HP:0012379	Abnormal circulating enzyme concentration or activity	847	CAT	ORPHA:926
HP:0012379	Abnormal circulating enzyme concentration or activity	847	CAT	OMIM:614097
HP:0012379	Abnormal circulating enzyme concentration or activity	5213	PFKM	OMIM:232800
HP:0012379	Abnormal circulating enzyme concentration or activity	3339	HSPG2	ORPHA:800
HP:0012379	Abnormal circulating enzyme concentration or activity	5313	PKLR	OMIM:266200
HP:0012379	Abnormal circulating enzyme concentration or activity	5313	PKLR	ORPHA:766
HP:0012379	Abnormal circulating enzyme concentration or activity	3938	LCT	OMIM:223000
HP:0012379	Abnormal circulating enzyme concentration or activity	4175	MCM6	OMIM:223100
HP:0012379	Abnormal circulating enzyme concentration or activity	3931	LCAT	OMIM:245900
HP:0012379	Abnormal circulating enzyme concentration or activity	3043	HBB	ORPHA:232
HP:0012379	Abnormal circulating enzyme concentration or activity	3123	HLA-DRB1	ORPHA:747
HP:0012379	Abnormal circulating enzyme concentration or activity	4352	MPL	ORPHA:824
HP:0012379	Abnormal circulating enzyme concentration or activity	6775	STAT4	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	6696	SPP1	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	3654	IRAK1	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	79650	USB1	OMIM:604173
HP:0012379	Abnormal circulating enzyme concentration or activity	5339	PLEC	ORPHA:254361
HP:0012379	Abnormal circulating enzyme concentration or activity	4609	MYC	ORPHA:543
HP:0012379	Abnormal circulating enzyme concentration or activity	6573	SLC19A1	OMIM:601775
HP:0012379	Abnormal circulating enzyme concentration or activity	4522	MTHFD1	OMIM:617780
HP:0012379	Abnormal circulating enzyme concentration or activity	6786	STIM1	OMIM:185070
HP:0012379	Abnormal circulating enzyme concentration or activity	10531	PITRM1	OMIM:619405
HP:0012379	Abnormal circulating enzyme concentration or activity	5294	PIK3CG	OMIM:619802
HP:0012379	Abnormal circulating enzyme concentration or activity	54888	NSUN2	OMIM:611091
HP:0012379	Abnormal circulating enzyme concentration or activity	339855	KY	OMIM:617114
HP:0012379	Abnormal circulating enzyme concentration or activity	2694	CBLIF	OMIM:261000
HP:0012379	Abnormal circulating enzyme concentration or activity	6208	RPS14	ORPHA:86841
HP:0012379	Abnormal circulating enzyme concentration or activity	10661	KLF1	OMIM:613673
HP:0012379	Abnormal circulating enzyme concentration or activity	8398	PLA2G6	ORPHA:35069
HP:0012379	Abnormal circulating enzyme concentration or activity	1719	DHFR	OMIM:613839
HP:0012379	Abnormal circulating enzyme concentration or activity	6521	SLC4A1	ORPHA:3202
HP:0012379	Abnormal circulating enzyme concentration or activity	9780	PIEZO1	ORPHA:3202
HP:0012379	Abnormal circulating enzyme concentration or activity	6005	RHAG	ORPHA:3203
HP:0012379	Abnormal circulating enzyme concentration or activity	6005	RHAG	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	64241	ABCG8	OMIM:210250
HP:0012379	Abnormal circulating enzyme concentration or activity	146059	CDAN1	OMIM:224120
HP:0012379	Abnormal circulating enzyme concentration or activity	6006	RHCE	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	6007	RHD	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	2313	FLI1	ORPHA:370348
HP:0012379	Abnormal circulating enzyme concentration or activity	6135	RPL11	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6138	RPL15	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6138	RPL15	OMIM:615550
HP:0012379	Abnormal circulating enzyme concentration or activity	6229	RPS24	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6229	RPS24	OMIM:610629
HP:0012379	Abnormal circulating enzyme concentration or activity	6125	RPL5	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6204	RPS10	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6224	RPS20	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6165	RPL35A	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6223	RPS19	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6223	RPS19	OMIM:105650
HP:0012379	Abnormal circulating enzyme concentration or activity	6232	RPS27	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6231	RPS26	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	11224	RPL35	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6160	RPL31	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6218	RPS17	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6201	RPS7	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6155	RPL27	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6154	RPL26	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6210	RPS15A	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	90121	TSR2	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	90121	TSR2	OMIM:300946
HP:0012379	Abnormal circulating enzyme concentration or activity	6141	RPL18	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6235	RPS29	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	6235	RPS29	OMIM:615909
HP:0012379	Abnormal circulating enzyme concentration or activity	6234	RPS28	ORPHA:124
HP:0012379	Abnormal circulating enzyme concentration or activity	100	ADA	OMIM:102700
HP:0012379	Abnormal circulating enzyme concentration or activity	197258	FCSK	OMIM:618324
HP:0012379	Abnormal circulating enzyme concentration or activity	6513	SLC2A1	OMIM:608885
HP:0012379	Abnormal circulating enzyme concentration or activity	199221	DZIP1L	ORPHA:731
HP:0012379	Abnormal circulating enzyme concentration or activity	23019	CNOT1	ORPHA:556955
HP:0012379	Abnormal circulating enzyme concentration or activity	171023	ASXL1	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	171023	ASXL1	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	54790	TET2	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	54790	TET2	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	867	CBL	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	861	RUNX1	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	6427	SRSF2	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	6427	SRSF2	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	3815	KIT	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	3815	KIT	ORPHA:79455
HP:0012379	Abnormal circulating enzyme concentration or activity	91949	COG7	OMIM:608779
HP:0012379	Abnormal circulating enzyme concentration or activity	3376	IARS1	OMIM:617093
HP:0012379	Abnormal circulating enzyme concentration or activity	286053	NSMCE2	OMIM:617253
HP:0012379	Abnormal circulating enzyme concentration or activity	4952	OCRL	OMIM:300555
HP:0012379	Abnormal circulating enzyme concentration or activity	8482	SEMA7A	OMIM:619874
HP:0012379	Abnormal circulating enzyme concentration or activity	57128	LYRM4	OMIM:615595
HP:0012379	Abnormal circulating enzyme concentration or activity	65080	MRPL44	OMIM:615395
HP:0012379	Abnormal circulating enzyme concentration or activity	570	BAAT	OMIM:619232
HP:0012379	Abnormal circulating enzyme concentration or activity	11222	MRPL3	OMIM:614582
HP:0012379	Abnormal circulating enzyme concentration or activity	7381	UQCRB	OMIM:615158
HP:0012379	Abnormal circulating enzyme concentration or activity	5009	OTC	OMIM:311250
HP:0012379	Abnormal circulating enzyme concentration or activity	5580	PRKCD	OMIM:615559
HP:0012379	Abnormal circulating enzyme concentration or activity	5828	PEX2	OMIM:614866
HP:0012379	Abnormal circulating enzyme concentration or activity	435	ASL	OMIM:207900
HP:0012379	Abnormal circulating enzyme concentration or activity	2592	GALT	OMIM:230400
HP:0012379	Abnormal circulating enzyme concentration or activity	338	APOB	OMIM:615558
HP:0012379	Abnormal circulating enzyme concentration or activity	9420	CYP7B1	OMIM:613812
HP:0012379	Abnormal circulating enzyme concentration or activity	9420	CYP7B1	ORPHA:79302
HP:0012379	Abnormal circulating enzyme concentration or activity	23600	AMACR	OMIM:214950
HP:0012379	Abnormal circulating enzyme concentration or activity	123264	SLC51B	OMIM:619481
HP:0012379	Abnormal circulating enzyme concentration or activity	10165	SLC25A13	OMIM:605814
HP:0012379	Abnormal circulating enzyme concentration or activity	197131	UBR1	OMIM:243800
HP:0012379	Abnormal circulating enzyme concentration or activity	55610	VPS50	OMIM:619685
HP:0012379	Abnormal circulating enzyme concentration or activity	7504	XK	OMIM:300842
HP:0012379	Abnormal circulating enzyme concentration or activity	6514	SLC2A2	OMIM:227810
HP:0012379	Abnormal circulating enzyme concentration or activity	6514	SLC2A2	ORPHA:2088
HP:0012379	Abnormal circulating enzyme concentration or activity	6341	SCO1	OMIM:619048
HP:0012379	Abnormal circulating enzyme concentration or activity	4141	MARS1	OMIM:615486
HP:0012379	Abnormal circulating enzyme concentration or activity	3162	HMOX1	OMIM:614034
HP:0012379	Abnormal circulating enzyme concentration or activity	54931	TRMT10C	OMIM:616974
HP:0012379	Abnormal circulating enzyme concentration or activity	5184	PEPD	OMIM:170100
HP:0012379	Abnormal circulating enzyme concentration or activity	131118	DNAJC19	OMIM:610198
HP:0012379	Abnormal circulating enzyme concentration or activity	2542	SLC37A4	OMIM:619525
HP:0012379	Abnormal circulating enzyme concentration or activity	8309	ACOX2	OMIM:617308
HP:0012379	Abnormal circulating enzyme concentration or activity	9409	PEX16	OMIM:614876
HP:0012379	Abnormal circulating enzyme concentration or activity	7486	WRN	OMIM:277700
HP:0012379	Abnormal circulating enzyme concentration or activity	540	ATP7B	OMIM:277900
HP:0012379	Abnormal circulating enzyme concentration or activity	3030	HADHA	OMIM:609015
HP:0012379	Abnormal circulating enzyme concentration or activity	56652	TWNK	OMIM:271245
HP:0012379	Abnormal circulating enzyme concentration or activity	2273	FHL1	OMIM:300280
HP:0012379	Abnormal circulating enzyme concentration or activity	1376	CPT2	OMIM:608836
HP:0012379	Abnormal circulating enzyme concentration or activity	79989	IFT56	OMIM:619534
HP:0012379	Abnormal circulating enzyme concentration or activity	51116	MRPS2	OMIM:617950
HP:0012379	Abnormal circulating enzyme concentration or activity	537	ATP6AP1	OMIM:300972
HP:0012379	Abnormal circulating enzyme concentration or activity	9215	LARGE1	OMIM:613154
HP:0012379	Abnormal circulating enzyme concentration or activity	50619	DEF6	OMIM:619573
HP:0012379	Abnormal circulating enzyme concentration or activity	348	APOE	OMIM:269600
HP:0012379	Abnormal circulating enzyme concentration or activity	3988	LIPA	OMIM:278000
HP:0012379	Abnormal circulating enzyme concentration or activity	11232	POLG2	OMIM:618528
HP:0012379	Abnormal circulating enzyme concentration or activity	9487	PIGL	OMIM:280000
HP:0012379	Abnormal circulating enzyme concentration or activity	859	CAV3	OMIM:614321
HP:0012379	Abnormal circulating enzyme concentration or activity	191	AHCY	OMIM:613752
HP:0012379	Abnormal circulating enzyme concentration or activity	1374	CPT1A	OMIM:255120
HP:0012379	Abnormal circulating enzyme concentration or activity	4358	MPV17	OMIM:256810
HP:0012379	Abnormal circulating enzyme concentration or activity	5236	PGM1	OMIM:614921
HP:0012379	Abnormal circulating enzyme concentration or activity	54532	USP53	OMIM:619658
HP:0012379	Abnormal circulating enzyme concentration or activity	5195	PEX14	OMIM:614887
HP:0012379	Abnormal circulating enzyme concentration or activity	55858	TMEM165	OMIM:614727
HP:0012379	Abnormal circulating enzyme concentration or activity	7841	MOGS	OMIM:606056
HP:0012379	Abnormal circulating enzyme concentration or activity	124454	EARS2	OMIM:614924
HP:0012379	Abnormal circulating enzyme concentration or activity	3158	HMGCS2	OMIM:605911
HP:0012379	Abnormal circulating enzyme concentration or activity	8802	SUCLG1	OMIM:245400
HP:0012379	Abnormal circulating enzyme concentration or activity	84342	COG8	OMIM:611182
HP:0012379	Abnormal circulating enzyme concentration or activity	9054	NFS1	OMIM:619386
HP:0012379	Abnormal circulating enzyme concentration or activity	113220	KIF12	OMIM:619662
HP:0012379	Abnormal circulating enzyme concentration or activity	1794	DOCK2	OMIM:616433
HP:0012379	Abnormal circulating enzyme concentration or activity	23230	VPS13A	ORPHA:2388
HP:0012379	Abnormal circulating enzyme concentration or activity	9971	NR1H4	OMIM:617049
HP:0012379	Abnormal circulating enzyme concentration or activity	2683	B4GALT1	OMIM:607091
HP:0012379	Abnormal circulating enzyme concentration or activity	4645	MYO5B	OMIM:619868
HP:0012379	Abnormal circulating enzyme concentration or activity	26276	VPS33B	OMIM:620010
HP:0012379	Abnormal circulating enzyme concentration or activity	6584	SLC22A5	OMIM:212140
HP:0012379	Abnormal circulating enzyme concentration or activity	132	ADK	OMIM:614300
HP:0012379	Abnormal circulating enzyme concentration or activity	5314	PKHD1	ORPHA:53035
HP:0012379	Abnormal circulating enzyme concentration or activity	2548	GAA	ORPHA:308552
HP:0012379	Abnormal circulating enzyme concentration or activity	226	ALDOA	OMIM:611881
HP:0012379	Abnormal circulating enzyme concentration or activity	55687	TRMU	OMIM:613070
HP:0012379	Abnormal circulating enzyme concentration or activity	5105	PCK1	OMIM:261680
HP:0012379	Abnormal circulating enzyme concentration or activity	26007	TKFC	OMIM:618805
HP:0012379	Abnormal circulating enzyme concentration or activity	8772	FADD	OMIM:613759
HP:0012379	Abnormal circulating enzyme concentration or activity	587	BCAT2	OMIM:618850
HP:0012379	Abnormal circulating enzyme concentration or activity	5424	POLD1	OMIM:615381
HP:0012379	Abnormal circulating enzyme concentration or activity	6773	STAT2	OMIM:616636
HP:0012379	Abnormal circulating enzyme concentration or activity	7915	ALDH5A1	OMIM:271980
HP:0012379	Abnormal circulating enzyme concentration or activity	6476	SI	OMIM:222900
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309162
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309155
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309169
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	OMIM:268800
HP:0012379	Abnormal circulating enzyme concentration or activity	3423	IDS	OMIM:309900
HP:0012379	Abnormal circulating enzyme concentration or activity	6609	SMPD1	OMIM:607616
HP:0012379	Abnormal circulating enzyme concentration or activity	2581	GALC	OMIM:245200
HP:0012379	Abnormal circulating enzyme concentration or activity	4126	MANBA	OMIM:248510
HP:0012379	Abnormal circulating enzyme concentration or activity	2678	GGT1	OMIM:231950
HP:0012379	Abnormal circulating enzyme concentration or activity	270	AMPD1	OMIM:615511
HP:0012379	Abnormal circulating enzyme concentration or activity	2027	ENO3	OMIM:612932
HP:0012379	Abnormal circulating enzyme concentration or activity	79783	SUGCT	OMIM:231690
HP:0012379	Abnormal circulating enzyme concentration or activity	2639	GCDH	OMIM:231670
HP:0012379	Abnormal circulating enzyme concentration or activity	26227	PHGDH	OMIM:601815
HP:0012379	Abnormal circulating enzyme concentration or activity	4125	MAN2B1	OMIM:248500
HP:0012379	Abnormal circulating enzyme concentration or activity	7389	UROD	OMIM:176100
HP:0012379	Abnormal circulating enzyme concentration or activity	3077	HFE	OMIM:176100
HP:0012379	Abnormal circulating enzyme concentration or activity	2517	FUCA1	OMIM:230000
HP:0012379	Abnormal circulating enzyme concentration or activity	26873	OPLAH	OMIM:260005
HP:0012379	Abnormal circulating enzyme concentration or activity	7941	PLA2G7	OMIM:614278
HP:0012379	Abnormal circulating enzyme concentration or activity	1053	CEBPE	OMIM:245480
HP:0012379	Abnormal circulating enzyme concentration or activity	34	ACADM	ORPHA:42
HP:0012379	Abnormal circulating enzyme concentration or activity	2624	GATA2	ORPHA:98827
HP:0012379	Abnormal circulating enzyme concentration or activity	3939	LDHA	ORPHA:284426
HP:0012379	Abnormal circulating enzyme concentration or activity	64374	SIL1	ORPHA:559
HP:0012379	Abnormal circulating enzyme concentration or activity	51763	INPP5K	ORPHA:559
HP:0012379	Abnormal circulating enzyme concentration or activity	2623	GATA1	ORPHA:67044
HP:0012379	Abnormal circulating enzyme concentration or activity	7157	TP53	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	5925	RB1	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	11200	CHEK2	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	84892	POMGNT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	148789	B3GALNT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	79147	FKRP	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	29954	POMT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	1282	COL4A1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	729920	CRPPA	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	10329	RXYLT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	1605	DAG1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	11041	B4GAT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	10585	POMT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	84197	POMK	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	2218	FKTN	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	55624	POMGNT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	3945	LDHB	OMIM:614128
HP:0012379	Abnormal circulating enzyme concentration or activity	5244	ABCB4	OMIM:614972
HP:0012379	Abnormal circulating enzyme concentration or activity	5205	ATP8B1	OMIM:147480
HP:0012379	Abnormal circulating enzyme concentration or activity	686	BTD	OMIM:253260
HP:0012379	Abnormal circulating enzyme concentration or activity	686	BTD	ORPHA:79241
HP:0012379	Abnormal circulating enzyme concentration or activity	5191	PEX7	OMIM:266500
HP:0012379	Abnormal circulating enzyme concentration or activity	5264	PHYH	OMIM:266500
HP:0012376	Microphakia	4010	LMX1B	OMIM:161200
HP:0012376	Microphakia	27151	CPAMD8	OMIM:617319
HP:0012376	Microphakia	3166	HMX1	OMIM:612109
HP:0012377	Hemianopia	4512	MT-CO1	OMIM:540000
HP:0012377	Hemianopia	4513	MT-CO2	OMIM:540000
HP:0012377	Hemianopia	4514	MT-CO3	OMIM:540000
HP:0012377	Hemianopia	4519	MT-CYB	OMIM:540000
HP:0012377	Hemianopia	4511	MT-TC	OMIM:540000
HP:0012377	Hemianopia	4574	MT-TS1	OMIM:540000
HP:0012377	Hemianopia	4575	MT-TS2	OMIM:540000
HP:0012377	Hemianopia	4575	MT-TS2	ORPHA:231183
HP:0012377	Hemianopia	4558	MT-TF	OMIM:540000
HP:0012377	Hemianopia	4541	MT-ND6	OMIM:540000
HP:0012377	Hemianopia	4567	MT-TL1	OMIM:540000
HP:0012377	Hemianopia	4540	MT-ND5	OMIM:540000
HP:0012377	Hemianopia	4566	MT-TK	OMIM:540000
HP:0012377	Hemianopia	4535	MT-ND1	OMIM:540000
HP:0012377	Hemianopia	4572	MT-TQ	OMIM:540000
HP:0012377	Hemianopia	4577	MT-TV	OMIM:540000
HP:0012377	Hemianopia	4578	MT-TW	OMIM:540000
HP:0012377	Hemianopia	64072	CDH23	ORPHA:231169
HP:0012377	Hemianopia	64072	CDH23	ORPHA:91347
HP:0012377	Hemianopia	64072	CDH23	ORPHA:2965
HP:0012377	Hemianopia	10083	USH1C	ORPHA:231169
HP:0012377	Hemianopia	124590	USH1G	ORPHA:231169
HP:0012377	Hemianopia	83715	ESPN	ORPHA:231169
HP:0012377	Hemianopia	10518	CIB2	ORPHA:231169
HP:0012377	Hemianopia	4647	MYO7A	ORPHA:231169
HP:0012377	Hemianopia	4647	MYO7A	ORPHA:231178
HP:0012377	Hemianopia	65217	PCDH15	ORPHA:231169
HP:0012377	Hemianopia	7399	USH2A	ORPHA:231178
HP:0012377	Hemianopia	79955	PDZD7	ORPHA:231178
HP:0012377	Hemianopia	25861	WHRN	ORPHA:231178
HP:0012377	Hemianopia	84059	ADGRV1	ORPHA:231178
HP:0012377	Hemianopia	11277	TREX1	ORPHA:247691
HP:0012377	Hemianopia	347733	TUBB2B	ORPHA:300573
HP:0012377	Hemianopia	16	AARS1	OMIM:619661
HP:0012377	Hemianopia	83550	GPR101	OMIM:300942
HP:0012377	Hemianopia	9692	PRORP	OMIM:619737
HP:0012377	Hemianopia	4221	MEN1	ORPHA:2965
HP:0012377	Hemianopia	9049	AIP	ORPHA:2965
HP:0012377	Hemianopia	5290	PIK3CA	ORPHA:99802
HP:0012377	Hemianopia	2475	MTOR	ORPHA:99802
HP:0012377	Hemianopia	10000	AKT3	ORPHA:99802
HP:0012377	Hemianopia	7401	CLRN1	ORPHA:231183
HP:0012377	Hemianopia	22901	ARSG	ORPHA:231183
HP:0012377	Hemianopia	3035	HARS1	ORPHA:231183
HP:0012377	Hemianopia	84131	CEP78	ORPHA:231183
HP:0012377	Hemianopia	2776	GNAQ	ORPHA:3205
HP:0012377	Hemianopia	55209	SETD5	ORPHA:404440
HP:0012377	Hemianopia	23600	AMACR	ORPHA:79095
HP:0012377	Hemianopia	8314	BAP1	ORPHA:2495
HP:0012377	Hemianopia	4771	NF2	ORPHA:2495
HP:0012377	Hemianopia	6598	SMARCB1	ORPHA:2495
HP:0012377	Hemianopia	5155	PDGFB	ORPHA:2495
HP:0012377	Hemianopia	84231	TRAF7	ORPHA:2495
HP:0012377	Hemianopia	6608	SMO	ORPHA:2495
HP:0012377	Hemianopia	207	AKT1	ORPHA:2495
HP:0012377	Hemianopia	7015	TERT	ORPHA:2495
HP:0012377	Hemianopia	51684	SUFU	ORPHA:2495
HP:0012377	Hemianopia	6605	SMARCE1	ORPHA:2495
HP:0012377	Hemianopia	1499	CTNNB1	ORPHA:54595
HP:0012377	Hemianopia	673	BRAF	ORPHA:54595
HP:0012370	Prominence of the zygomatic bone	760	CA2	ORPHA:2785
HP:0012371	Hyperplasia of midface	92335	STRADA	OMIM:611087
HP:0012371	Hyperplasia of midface	23111	SPART	OMIM:275900
HP:0012371	Hyperplasia of midface	286053	NSMCE2	OMIM:617253
HP:0012371	Hyperplasia of midface	10265	IRX5	OMIM:611174
HP:0012373	Abnormal eye physiology	51256	TBC1D7	OMIM:248000
HP:0012373	Abnormal eye physiology	30000	TNPO2	OMIM:619556
HP:0012373	Abnormal eye physiology	9158	FIBP	ORPHA:500095
HP:0012373	Abnormal eye physiology	7003	TEAD1	OMIM:108985
HP:0012373	Abnormal eye physiology	5575	PRKAR1B	OMIM:619680
HP:0012373	Abnormal eye physiology	6905	TBCE	ORPHA:2323
HP:0012373	Abnormal eye physiology	56915	EXOSC5	OMIM:619576
HP:0012373	Abnormal eye physiology	55870	ASH1L	OMIM:617796
HP:0012373	Abnormal eye physiology	6045	RNF2	OMIM:619460
HP:0012373	Abnormal eye physiology	372	ARCN1	OMIM:617164
HP:0012373	Abnormal eye physiology	4591	TRIM37	OMIM:253250
HP:0012373	Abnormal eye physiology	2743	GLRB	OMIM:614619
HP:0012373	Abnormal eye physiology	253738	EBF3	OMIM:617330
HP:0012373	Abnormal eye physiology	134218	DNAJC21	OMIM:617052
HP:0012373	Abnormal eye physiology	8239	USP9X	ORPHA:480880
HP:0012373	Abnormal eye physiology	8239	USP9X	OMIM:300968
HP:0012373	Abnormal eye physiology	283446	MYO1H	OMIM:619482
HP:0012373	Abnormal eye physiology	2890	GRIA1	OMIM:619927
HP:0012373	Abnormal eye physiology	51341	ZBTB7A	OMIM:619769
HP:0012373	Abnormal eye physiology	50485	SMARCAL1	OMIM:242900
HP:0012373	Abnormal eye physiology	81031	SLC2A10	OMIM:208050
HP:0012373	Abnormal eye physiology	55181	SMG8	OMIM:619268
HP:0012373	Abnormal eye physiology	26173	INTS1	OMIM:618571
HP:0012373	Abnormal eye physiology	57459	GATAD2B	ORPHA:363686
HP:0012373	Abnormal eye physiology	79158	GNPTAB	OMIM:252600
HP:0012373	Abnormal eye physiology	340533	NEXMIF	OMIM:300912
HP:0012373	Abnormal eye physiology	1139	CHRNA7	ORPHA:199318
HP:0012373	Abnormal eye physiology	1139	CHRNA7	OMIM:612001
HP:0012373	Abnormal eye physiology	23135	KDM6B	OMIM:618505
HP:0012373	Abnormal eye physiology	2677	GGCX	ORPHA:436274
HP:0012373	Abnormal eye physiology	4897	NRCAM	OMIM:619833
HP:0012373	Abnormal eye physiology	80816	ASXL3	OMIM:615485
HP:0012373	Abnormal eye physiology	80816	ASXL3	ORPHA:352577
HP:0012373	Abnormal eye physiology	283489	CHAMP1	OMIM:616579
HP:0012373	Abnormal eye physiology	112802	KRT71	ORPHA:170
HP:0012373	Abnormal eye physiology	121391	KRT74	ORPHA:170
HP:0012373	Abnormal eye physiology	200879	LIPH	ORPHA:170
HP:0012373	Abnormal eye physiology	10161	LPAR6	ORPHA:170
HP:0012373	Abnormal eye physiology	147183	KRT25	ORPHA:170
HP:0012373	Abnormal eye physiology	818	CAMK2G	OMIM:618522
HP:0012373	Abnormal eye physiology	8493	PPM1D	OMIM:617450
HP:0012373	Abnormal eye physiology	55773	TBC1D23	OMIM:617695
HP:0012373	Abnormal eye physiology	23259	DDHD2	OMIM:615033
HP:0012373	Abnormal eye physiology	23259	DDHD2	ORPHA:320380
HP:0012373	Abnormal eye physiology	55280	CWF19L1	OMIM:616127
HP:0012373	Abnormal eye physiology	92609	TIMM50	OMIM:617698
HP:0012373	Abnormal eye physiology	8818	DPM2	OMIM:615042
HP:0012373	Abnormal eye physiology	8818	DPM2	ORPHA:329178
HP:0012373	Abnormal eye physiology	56098	PCDHGC4	OMIM:619880
HP:0012373	Abnormal eye physiology	113179	ADAT3	OMIM:615286
HP:0012373	Abnormal eye physiology	113179	ADAT3	ORPHA:363528
HP:0012373	Abnormal eye physiology	1742	DLG4	OMIM:618793
HP:0012373	Abnormal eye physiology	9772	TMEM94	OMIM:618316
HP:0012373	Abnormal eye physiology	4208	MEF2C	ORPHA:228384
HP:0012373	Abnormal eye physiology	9949	AMMECR1	OMIM:300990
HP:0012373	Abnormal eye physiology	9949	AMMECR1	ORPHA:86818
HP:0012373	Abnormal eye physiology	51574	LARP7	OMIM:615071
HP:0012373	Abnormal eye physiology	51574	LARP7	ORPHA:319671
HP:0012373	Abnormal eye physiology	56896	DPYSL5	OMIM:619435
HP:0012373	Abnormal eye physiology	6418	SET	OMIM:618106
HP:0012373	Abnormal eye physiology	55746	NUP133	OMIM:618349
HP:0012373	Abnormal eye physiology	50814	NSDHL	ORPHA:251383
HP:0012373	Abnormal eye physiology	50814	NSDHL	OMIM:300831
HP:0012373	Abnormal eye physiology	7681	MKRN3	OMIM:176270
HP:0012373	Abnormal eye physiology	3653	IPW	OMIM:176270
HP:0012373	Abnormal eye physiology	791114	PWRN1	OMIM:176270
HP:0012373	Abnormal eye physiology	100033413	SNORD116-1	OMIM:176270
HP:0012373	Abnormal eye physiology	8924	HERC2	OMIM:176270
HP:0012373	Abnormal eye physiology	8924	HERC2	OMIM:615516
HP:0012373	Abnormal eye physiology	145624	PWAR1	OMIM:176270
HP:0012373	Abnormal eye physiology	23742	NPAP1	OMIM:176270
HP:0012373	Abnormal eye physiology	338433	SNORD115-1	OMIM:176270
HP:0012373	Abnormal eye physiology	2972	BRF1	ORPHA:444072
HP:0012373	Abnormal eye physiology	2972	BRF1	OMIM:616202
HP:0012373	Abnormal eye physiology	6492	SIM1	ORPHA:171829
HP:0012373	Abnormal eye physiology	6492	SIM1	ORPHA:398079
HP:0012373	Abnormal eye physiology	4998	ORC1	OMIM:224690
HP:0012373	Abnormal eye physiology	84065	TMEM222	OMIM:619470
HP:0012373	Abnormal eye physiology	9321	TRIP11	ORPHA:166272
HP:0012373	Abnormal eye physiology	6711	SPTBN1	OMIM:619475
HP:0012373	Abnormal eye physiology	11198	SUPT16H	OMIM:619480
HP:0012373	Abnormal eye physiology	8318	CDC45	OMIM:617063
HP:0012373	Abnormal eye physiology	57477	SHROOM4	ORPHA:85288
HP:0012373	Abnormal eye physiology	23096	IQSEC2	OMIM:309530
HP:0012373	Abnormal eye physiology	23096	IQSEC2	ORPHA:819
HP:0012373	Abnormal eye physiology	23096	IQSEC2	ORPHA:397933
HP:0012373	Abnormal eye physiology	3516	RBPJ	ORPHA:974
HP:0012373	Abnormal eye physiology	4851	NOTCH1	ORPHA:974
HP:0012373	Abnormal eye physiology	57514	ARHGAP31	ORPHA:974
HP:0012373	Abnormal eye physiology	285203	EOGT	ORPHA:974
HP:0012373	Abnormal eye physiology	54567	DLL4	ORPHA:974
HP:0012373	Abnormal eye physiology	6748	SSR4	ORPHA:370927
HP:0012373	Abnormal eye physiology	6748	SSR4	OMIM:300934
HP:0012373	Abnormal eye physiology	8242	KDM5C	ORPHA:85279
HP:0012373	Abnormal eye physiology	8242	KDM5C	OMIM:300534
HP:0012373	Abnormal eye physiology	10079	ATP9A	OMIM:620242
HP:0012373	Abnormal eye physiology	2801	GOLGA2	OMIM:620240
HP:0012373	Abnormal eye physiology	1513	CTSK	ORPHA:763
HP:0012373	Abnormal eye physiology	84282	RNF135	ORPHA:137634
HP:0012373	Abnormal eye physiology	8200	GDF5	ORPHA:3250
HP:0012373	Abnormal eye physiology	2314	FLII	ORPHA:819
HP:0012373	Abnormal eye physiology	10522	DEAF1	ORPHA:819
HP:0012373	Abnormal eye physiology	5979	RET	ORPHA:99803
HP:0012373	Abnormal eye physiology	429	ASCL1	ORPHA:99803
HP:0012373	Abnormal eye physiology	8929	PHOX2B	ORPHA:99803
HP:0012373	Abnormal eye physiology	10225	CD96	OMIM:211750
HP:0012373	Abnormal eye physiology	10225	CD96	ORPHA:1308
HP:0012373	Abnormal eye physiology	56992	KIF15	ORPHA:261323
HP:0012373	Abnormal eye physiology	80204	FBXO11	OMIM:618089
HP:0012373	Abnormal eye physiology	23325	WASHC4	OMIM:615817
HP:0012373	Abnormal eye physiology	11160	ERLIN2	OMIM:611225
HP:0012373	Abnormal eye physiology	83879	CDCA7	OMIM:616910
HP:0012373	Abnormal eye physiology	3192	HNRNPU	ORPHA:238769
HP:0012373	Abnormal eye physiology	51114	ZDHHC9	OMIM:300799
HP:0012373	Abnormal eye physiology	116442	RAB39B	ORPHA:2379
HP:0012373	Abnormal eye physiology	79753	SNIP1	OMIM:614501
HP:0012373	Abnormal eye physiology	1650	DDOST	OMIM:614507
HP:0012373	Abnormal eye physiology	182	JAG1	OMIM:118450
HP:0012373	Abnormal eye physiology	55275	VPS53	OMIM:615851
HP:0012373	Abnormal eye physiology	2146	EZH2	OMIM:277590
HP:0012373	Abnormal eye physiology	171023	ASXL1	OMIM:605039
HP:0012373	Abnormal eye physiology	51134	CEP83	OMIM:615862
HP:0012373	Abnormal eye physiology	22907	DHX30	OMIM:617804
HP:0012373	Abnormal eye physiology	7319	UBE2A	ORPHA:163956
HP:0012373	Abnormal eye physiology	84162	BLTP1	OMIM:617822
HP:0012373	Abnormal eye physiology	84679	SLC9A7	OMIM:301024
HP:0012373	Abnormal eye physiology	63035	BCORL1	OMIM:301029
HP:0012373	Abnormal eye physiology	9378	NRXN1	OMIM:614325
HP:0012373	Abnormal eye physiology	1000	CDH2	OMIM:618929
HP:0012373	Abnormal eye physiology	6197	RPS6KA3	ORPHA:192
HP:0012373	Abnormal eye physiology	10664	CTCF	ORPHA:363611
HP:0012373	Abnormal eye physiology	10664	CTCF	OMIM:615502
HP:0012373	Abnormal eye physiology	81689	ISCA1	OMIM:617613
HP:0012373	Abnormal eye physiology	122553	TRAPPC6B	OMIM:617862
HP:0012373	Abnormal eye physiology	92335	STRADA	OMIM:611087
HP:0012373	Abnormal eye physiology	55691	FRMD4A	ORPHA:466688
HP:0012373	Abnormal eye physiology	55691	FRMD4A	OMIM:616819
HP:0012373	Abnormal eye physiology	1788	DNMT3A	OMIM:618724
HP:0012373	Abnormal eye physiology	9451	EIF2AK3	ORPHA:1667
HP:0012373	Abnormal eye physiology	11141	IL1RAPL1	OMIM:300143
HP:0012373	Abnormal eye physiology	6660	SOX5	ORPHA:313892
HP:0012373	Abnormal eye physiology	6660	SOX5	OMIM:616803
HP:0012373	Abnormal eye physiology	2626	GATA4	ORPHA:251071
HP:0012373	Abnormal eye physiology	5566	PRKACA	ORPHA:289
HP:0012373	Abnormal eye physiology	5567	PRKACB	ORPHA:289
HP:0012373	Abnormal eye physiology	2735	GLI1	ORPHA:289
HP:0012373	Abnormal eye physiology	2121	EVC	ORPHA:289
HP:0012373	Abnormal eye physiology	51626	DYNC2LI1	ORPHA:289
HP:0012373	Abnormal eye physiology	132884	EVC2	ORPHA:289
HP:0012373	Abnormal eye physiology	1656	DDX6	OMIM:618653
HP:0012373	Abnormal eye physiology	26057	ANKRD17	OMIM:619504
HP:0012373	Abnormal eye physiology	29081	METTL5	OMIM:618665
HP:0012373	Abnormal eye physiology	4191	MDH2	OMIM:617339
HP:0012373	Abnormal eye physiology	53335	BCL11A	OMIM:617101
HP:0012373	Abnormal eye physiology	6942	TCF20	OMIM:618430
HP:0012373	Abnormal eye physiology	2542	SLC37A4	OMIM:619525
HP:0012373	Abnormal eye physiology	2678	GGT1	OMIM:231950
HP:0012373	Abnormal eye physiology	23219	FBXO28	OMIM:619777
HP:0012373	Abnormal eye physiology	29929	ALG6	ORPHA:79320
HP:0012373	Abnormal eye physiology	29929	ALG6	OMIM:603147
HP:0012373	Abnormal eye physiology	79087	ALG12	ORPHA:79324
HP:0012373	Abnormal eye physiology	1723	DHODH	ORPHA:246
HP:0012373	Abnormal eye physiology	51013	EXOSC1	OMIM:619304
HP:0012373	Abnormal eye physiology	2775	GNAO1	ORPHA:1934
HP:0012373	Abnormal eye physiology	81603	TRIM8	ORPHA:1934
HP:0012373	Abnormal eye physiology	150094	SIK1	ORPHA:1934
HP:0012373	Abnormal eye physiology	23312	DMXL2	ORPHA:1934
HP:0012373	Abnormal eye physiology	11284	PNKP	ORPHA:1934
HP:0012373	Abnormal eye physiology	6324	SCN1B	ORPHA:1934
HP:0012373	Abnormal eye physiology	29998	BICRA	OMIM:619325
HP:0012373	Abnormal eye physiology	2710	GK	OMIM:307030
HP:0012373	Abnormal eye physiology	1741	DLG3	OMIM:300850
HP:0012373	Abnormal eye physiology	191	AHCY	ORPHA:88618
HP:0012373	Abnormal eye physiology	10524	KAT5	OMIM:619103
HP:0012373	Abnormal eye physiology	5573	PRKAR1A	OMIM:101800
HP:0012373	Abnormal eye physiology	80185	TTI2	ORPHA:391307
HP:0012373	Abnormal eye physiology	80185	TTI2	OMIM:615541
HP:0012373	Abnormal eye physiology	10847	SRCAP	OMIM:619595
HP:0012373	Abnormal eye physiology	10847	SRCAP	ORPHA:2044
HP:0012373	Abnormal eye physiology	10847	SRCAP	OMIM:136140
HP:0012373	Abnormal eye physiology	5702	PSMC3	OMIM:619354
HP:0012373	Abnormal eye physiology	79005	SCNM1	OMIM:620107
HP:0012373	Abnormal eye physiology	3480	IGF1R	OMIM:270450
HP:0012373	Abnormal eye physiology	10134	BCAP31	OMIM:300475
HP:0012373	Abnormal eye physiology	10134	BCAP31	ORPHA:369939
HP:0012373	Abnormal eye physiology	10274	STAG1	ORPHA:502434
HP:0012373	Abnormal eye physiology	501	ALDH7A1	OMIM:266100
HP:0012373	Abnormal eye physiology	10015	PDCD6IP	OMIM:620047
HP:0012373	Abnormal eye physiology	2615	LRRC32	OMIM:619074
HP:0012373	Abnormal eye physiology	1727	CYB5R3	OMIM:250800
HP:0012373	Abnormal eye physiology	51244	CCDC174	OMIM:616816
HP:0012373	Abnormal eye physiology	51053	GMNN	OMIM:616835
HP:0012373	Abnormal eye physiology	51621	KLF13	OMIM:612001
HP:0012373	Abnormal eye physiology	55784	MCTP2	ORPHA:1596
HP:0012373	Abnormal eye physiology	11253	MAN1B1	OMIM:614202
HP:0012373	Abnormal eye physiology	27315	PGAP2	OMIM:614207
HP:0012373	Abnormal eye physiology	3209	HOXA13	ORPHA:2438
HP:0012373	Abnormal eye physiology	23395	LARS2	OMIM:615300
HP:0012373	Abnormal eye physiology	3835	KIF22	ORPHA:93360
HP:0012373	Abnormal eye physiology	8405	SPOP	OMIM:618829
HP:0012373	Abnormal eye physiology	23630	KCNE5	ORPHA:86818
HP:0012373	Abnormal eye physiology	2182	ACSL4	ORPHA:86818
HP:0012373	Abnormal eye physiology	9320	TRIP12	OMIM:617752
HP:0012373	Abnormal eye physiology	6913	TBX15	ORPHA:93333
HP:0012373	Abnormal eye physiology	55343	SLC35C1	ORPHA:99843
HP:0012373	Abnormal eye physiology	3572	IL6ST	OMIM:618523
HP:0012373	Abnormal eye physiology	242	ALOX12B	ORPHA:79394
HP:0012373	Abnormal eye physiology	204219	CERS3	ORPHA:79394
HP:0012373	Abnormal eye physiology	26154	ABCA12	ORPHA:79394
HP:0012373	Abnormal eye physiology	285848	PNPLA1	ORPHA:79394
HP:0012373	Abnormal eye physiology	59344	ALOXE3	ORPHA:79394
HP:0012373	Abnormal eye physiology	348938	NIPAL4	ORPHA:79394
HP:0012373	Abnormal eye physiology	7051	TGM1	ORPHA:79394
HP:0012373	Abnormal eye physiology	9244	CRLF1	OMIM:272430
HP:0012373	Abnormal eye physiology	1288	COL4A6	ORPHA:1018
HP:0012373	Abnormal eye physiology	1287	COL4A5	ORPHA:1018
HP:0012373	Abnormal eye physiology	3064	HTT	ORPHA:399
HP:0012373	Abnormal eye physiology	3064	HTT	OMIM:143100
HP:0012373	Abnormal eye physiology	6515	SLC2A3	ORPHA:399
HP:0012373	Abnormal eye physiology	3763	KCNJ6	ORPHA:435628
HP:0012373	Abnormal eye physiology	114327	EFHC1	ORPHA:307
HP:0012373	Abnormal eye physiology	114327	EFHC1	ORPHA:1941
HP:0012373	Abnormal eye physiology	3786	KCNQ3	ORPHA:307
HP:0012373	Abnormal eye physiology	22858	CILK1	ORPHA:307
HP:0012373	Abnormal eye physiology	5521	PPP2R2B	OMIM:604326
HP:0012373	Abnormal eye physiology	8050	PDHX	OMIM:245349
HP:0012373	Abnormal eye physiology	11212	PLPBP	ORPHA:3006
HP:0012373	Abnormal eye physiology	7915	ALDH5A1	OMIM:271980
HP:0012373	Abnormal eye physiology	23476	BRD4	ORPHA:199
HP:0012373	Abnormal eye physiology	9126	SMC3	ORPHA:199
HP:0012373	Abnormal eye physiology	25836	NIPBL	ORPHA:199
HP:0012373	Abnormal eye physiology	55869	HDAC8	ORPHA:199
HP:0012373	Abnormal eye physiology	5980	REV3L	ORPHA:570
HP:0012373	Abnormal eye physiology	23129	PLXND1	ORPHA:570
HP:0012373	Abnormal eye physiology	51360	MBTPS2	ORPHA:2273
HP:0012373	Abnormal eye physiology	51360	MBTPS2	OMIM:308800
HP:0012373	Abnormal eye physiology	51360	MBTPS2	OMIM:300918
HP:0012373	Abnormal eye physiology	6868	ADAM17	OMIM:614328
HP:0012373	Abnormal eye physiology	6868	ADAM17	ORPHA:294023
HP:0012373	Abnormal eye physiology	7454	WAS	ORPHA:906
HP:0012373	Abnormal eye physiology	7456	WIPF1	ORPHA:906
HP:0012373	Abnormal eye physiology	1736	DKC1	OMIM:305000
HP:0012373	Abnormal eye physiology	1736	DKC1	ORPHA:1775
HP:0012373	Abnormal eye physiology	10095	ARPC1B	OMIM:617718
HP:0012373	Abnormal eye physiology	10804	GJB6	OMIM:129500
HP:0012373	Abnormal eye physiology	79650	USB1	OMIM:604173
HP:0012373	Abnormal eye physiology	79650	USB1	ORPHA:1775
HP:0012373	Abnormal eye physiology	6768	ST14	OMIM:602400
HP:0012373	Abnormal eye physiology	55630	SLC39A4	ORPHA:37
HP:0012373	Abnormal eye physiology	23556	PIGN	ORPHA:280633
HP:0012373	Abnormal eye physiology	9496	TBX4	ORPHA:261279
HP:0012373	Abnormal eye physiology	80169	CTC1	ORPHA:1775
HP:0012373	Abnormal eye physiology	26277	TINF2	ORPHA:1775
HP:0012373	Abnormal eye physiology	55651	NHP2	ORPHA:1775
HP:0012373	Abnormal eye physiology	55135	WRAP53	ORPHA:1775
HP:0012373	Abnormal eye physiology	51750	RTEL1	ORPHA:1775
HP:0012373	Abnormal eye physiology	4869	NPM1	ORPHA:1775
HP:0012373	Abnormal eye physiology	7012	TERC	ORPHA:1775
HP:0012373	Abnormal eye physiology	55505	NOP10	ORPHA:1775
HP:0012373	Abnormal eye physiology	5073	PARN	ORPHA:1775
HP:0012373	Abnormal eye physiology	5333	PLCD1	ORPHA:2387
HP:0012373	Abnormal eye physiology	10758	TRAF3IP2	OMIM:615527
HP:0012373	Abnormal eye physiology	1474	CST6	OMIM:618535
HP:0012373	Abnormal eye physiology	6307	MSMO1	OMIM:616834
HP:0012373	Abnormal eye physiology	1956	EGFR	ORPHA:294023
HP:0012373	Abnormal eye physiology	2068	ERCC2	ORPHA:910
HP:0012373	Abnormal eye physiology	7507	XPA	ORPHA:910
HP:0012373	Abnormal eye physiology	2071	ERCC3	ORPHA:910
HP:0012373	Abnormal eye physiology	7508	XPC	ORPHA:910
HP:0012373	Abnormal eye physiology	1643	DDB2	ORPHA:910
HP:0012373	Abnormal eye physiology	2072	ERCC4	ORPHA:910
HP:0012373	Abnormal eye physiology	2073	ERCC5	ORPHA:910
HP:0012373	Abnormal eye physiology	4016	LOXL1	OMIM:177650
HP:0012373	Abnormal eye physiology	64412	GZF1	OMIM:617662
HP:0012373	Abnormal eye physiology	84892	POMGNT2	OMIM:614830
HP:0012373	Abnormal eye physiology	84892	POMGNT2	ORPHA:899
HP:0012373	Abnormal eye physiology	9508	ADAMTS3	ORPHA:2136
HP:0012373	Abnormal eye physiology	147372	CCBE1	ORPHA:2136
HP:0012373	Abnormal eye physiology	147372	CCBE1	OMIM:235510
HP:0012373	Abnormal eye physiology	11107	PRDM5	ORPHA:90354
HP:0012373	Abnormal eye physiology	84627	ZNF469	ORPHA:90354
HP:0012373	Abnormal eye physiology	90	ACVR1	ORPHA:337
HP:0012373	Abnormal eye physiology	8643	PTCH2	ORPHA:377
HP:0012373	Abnormal eye physiology	5286	PIK3C2A	OMIM:618440
HP:0012373	Abnormal eye physiology	5286	PIK3C2A	ORPHA:557003
HP:0012373	Abnormal eye physiology	729920	CRPPA	OMIM:614643
HP:0012373	Abnormal eye physiology	729920	CRPPA	ORPHA:899
HP:0012373	Abnormal eye physiology	545	ATR	ORPHA:808
HP:0012373	Abnormal eye physiology	5116	PCNT	ORPHA:808
HP:0012373	Abnormal eye physiology	5932	RBBP8	ORPHA:808
HP:0012373	Abnormal eye physiology	79902	NUP85	ORPHA:808
HP:0012373	Abnormal eye physiology	84126	ATRIP	ORPHA:808
HP:0012373	Abnormal eye physiology	55835	CENPJ	ORPHA:808
HP:0012373	Abnormal eye physiology	10293	TRAIP	ORPHA:808
HP:0012373	Abnormal eye physiology	22995	CEP152	ORPHA:808
HP:0012373	Abnormal eye physiology	80324	PUS1	ORPHA:2598
HP:0012373	Abnormal eye physiology	1417	CRYBB3	OMIM:609741
HP:0012373	Abnormal eye physiology	411	ARSB	OMIM:253200
HP:0012373	Abnormal eye physiology	23586	RIGI	OMIM:616298
HP:0012373	Abnormal eye physiology	10329	RXYLT1	ORPHA:899
HP:0012373	Abnormal eye physiology	1605	DAG1	ORPHA:899
HP:0012373	Abnormal eye physiology	1605	DAG1	OMIM:616538
HP:0012373	Abnormal eye physiology	8671	SLC4A4	OMIM:604278
HP:0012373	Abnormal eye physiology	2530	FUT8	OMIM:618005
HP:0012373	Abnormal eye physiology	2707	GJB3	ORPHA:317
HP:0012373	Abnormal eye physiology	2531	KDSR	ORPHA:317
HP:0012373	Abnormal eye physiology	127534	GJB4	ORPHA:317
HP:0012373	Abnormal eye physiology	1412	CRYBA2	OMIM:115900
HP:0012373	Abnormal eye physiology	28952	CCDC22	OMIM:300963
HP:0012373	Abnormal eye physiology	28952	CCDC22	ORPHA:7
HP:0012373	Abnormal eye physiology	126792	B3GALT6	ORPHA:536467
HP:0012373	Abnormal eye physiology	3739	KCNA4	OMIM:618284
HP:0012373	Abnormal eye physiology	55790	CSGALNACT1	ORPHA:1425
HP:0012373	Abnormal eye physiology	9897	WASHC5	ORPHA:7
HP:0012373	Abnormal eye physiology	9130	FAM50A	OMIM:300261
HP:0012373	Abnormal eye physiology	9652	SKIC3	ORPHA:84064
HP:0012373	Abnormal eye physiology	6499	SKIC2	ORPHA:84064
HP:0012373	Abnormal eye physiology	25885	POLR1A	ORPHA:1200
HP:0012373	Abnormal eye physiology	10907	TXNL4A	ORPHA:1200
HP:0012373	Abnormal eye physiology	2321	FLT1	ORPHA:275555
HP:0012373	Abnormal eye physiology	219736	STOX1	ORPHA:275555
HP:0012373	Abnormal eye physiology	10699	CORIN	ORPHA:275555
HP:0012373	Abnormal eye physiology	124997	WDR81	ORPHA:1766
HP:0012373	Abnormal eye physiology	51761	ATP8A2	ORPHA:1766
HP:0012373	Abnormal eye physiology	767	CA8	ORPHA:1766
HP:0012373	Abnormal eye physiology	154881	KCTD7	ORPHA:263516
HP:0012373	Abnormal eye physiology	9342	SNAP29	ORPHA:66631
HP:0012373	Abnormal eye physiology	51339	DACT1	ORPHA:857
HP:0012373	Abnormal eye physiology	2103	ESRRB	OMIM:608565
HP:0012373	Abnormal eye physiology	1908	EDN3	ORPHA:897
HP:0012373	Abnormal eye physiology	1500	CTNND1	ORPHA:1997
HP:0012373	Abnormal eye physiology	999	CDH1	ORPHA:1997
HP:0012373	Abnormal eye physiology	23314	SATB2	ORPHA:576283
HP:0012373	Abnormal eye physiology	4692	NDN	ORPHA:177904
HP:0012373	Abnormal eye physiology	4692	NDN	ORPHA:177901
HP:0012373	Abnormal eye physiology	54551	MAGEL2	ORPHA:177904
HP:0012373	Abnormal eye physiology	54551	MAGEL2	ORPHA:177901
HP:0012373	Abnormal eye physiology	1512	CTSH	ORPHA:2073
HP:0012373	Abnormal eye physiology	5032	P2RY11	ORPHA:2073
HP:0012373	Abnormal eye physiology	4340	MOG	ORPHA:2073
HP:0012373	Abnormal eye physiology	3060	HCRT	ORPHA:2073
HP:0012373	Abnormal eye physiology	22891	ZNF365	ORPHA:2073
HP:0012373	Abnormal eye physiology	7292	TNFSF4	ORPHA:2073
HP:0012373	Abnormal eye physiology	92344	GORAB	ORPHA:2078
HP:0012373	Abnormal eye physiology	5663	PSEN1	ORPHA:1020
HP:0012373	Abnormal eye physiology	5664	PSEN2	ORPHA:1020
HP:0012373	Abnormal eye physiology	10452	TOMM40	ORPHA:1020
HP:0012373	Abnormal eye physiology	351	APP	ORPHA:1020
HP:0012373	Abnormal eye physiology	54209	TREM2	ORPHA:1020
HP:0012373	Abnormal eye physiology	10347	ABCA7	ORPHA:1020
HP:0012373	Abnormal eye physiology	6653	SORL1	ORPHA:1020
HP:0012373	Abnormal eye physiology	3081	HGD	ORPHA:56
HP:0012373	Abnormal eye physiology	9184	BUB3	ORPHA:1052
HP:0012373	Abnormal eye physiology	699	BUB1	ORPHA:1052
HP:0012373	Abnormal eye physiology	9702	CEP57	ORPHA:1052
HP:0012373	Abnormal eye physiology	84818	IL17RC	ORPHA:1334
HP:0012373	Abnormal eye physiology	64581	CLEC7A	ORPHA:1334
HP:0012373	Abnormal eye physiology	23765	IL17RA	ORPHA:1334
HP:0012373	Abnormal eye physiology	112744	IL17F	ORPHA:1334
HP:0012373	Abnormal eye physiology	6304	SATB1	OMIM:619229
HP:0012373	Abnormal eye physiology	56172	ANKH	ORPHA:1522
HP:0012373	Abnormal eye physiology	19	ABCA1	OMIM:205400
HP:0012373	Abnormal eye physiology	5322	PLA2G5	OMIM:228980
HP:0012373	Abnormal eye physiology	535	ATP6V0A1	OMIM:619970
HP:0012373	Abnormal eye physiology	815	CAMK2A	OMIM:617798
HP:0012373	Abnormal eye physiology	388962	BOLA3	OMIM:614299
HP:0012373	Abnormal eye physiology	150468	CKAP2L	OMIM:272440
HP:0012373	Abnormal eye physiology	4556	MT-TE	ORPHA:225
HP:0012373	Abnormal eye physiology	285362	SUMF1	ORPHA:585
HP:0012373	Abnormal eye physiology	2271	FH	OMIM:606812
HP:0012373	Abnormal eye physiology	9922	IQSEC1	OMIM:618687
HP:0012373	Abnormal eye physiology	9896	FIG4	ORPHA:208441
HP:0012373	Abnormal eye physiology	8295	TRRAP	OMIM:618454
HP:0012373	Abnormal eye physiology	9488	PIGB	OMIM:618580
HP:0012373	Abnormal eye physiology	10102	TSFM	OMIM:610505
HP:0012373	Abnormal eye physiology	5515	PPP2CA	OMIM:618354
HP:0012373	Abnormal eye physiology	1654	DDX3X	ORPHA:457260
HP:0012373	Abnormal eye physiology	55777	MBD5	OMIM:156200
HP:0012373	Abnormal eye physiology	84705	GTPBP3	OMIM:616198
HP:0012373	Abnormal eye physiology	84705	GTPBP3	ORPHA:444013
HP:0012373	Abnormal eye physiology	84172	POLR1B	ORPHA:861
HP:0012373	Abnormal eye physiology	9533	POLR1C	ORPHA:861
HP:0012373	Abnormal eye physiology	51082	POLR1D	ORPHA:861
HP:0012373	Abnormal eye physiology	374354	NHLRC2	OMIM:618278
HP:0012373	Abnormal eye physiology	2799	GNS	OMIM:252940
HP:0012373	Abnormal eye physiology	27161	AGO2	OMIM:619149
HP:0012373	Abnormal eye physiology	4921	DDR2	OMIM:618175
HP:0012373	Abnormal eye physiology	27183	VPS4A	OMIM:619273
HP:0012373	Abnormal eye physiology	126326	GIPC3	OMIM:601869
HP:0012373	Abnormal eye physiology	2896	GRN	OMIM:614706
HP:0012373	Abnormal eye physiology	63908	NAPB	OMIM:620033
HP:0012373	Abnormal eye physiology	9739	SETD1A	OMIM:619056
HP:0012373	Abnormal eye physiology	6999	TDO2	OMIM:600627
HP:0012373	Abnormal eye physiology	388551	CEACAM16	OMIM:614614
HP:0012373	Abnormal eye physiology	56006	SMG9	OMIM:616920
HP:0012373	Abnormal eye physiology	643226	GRXCR2	OMIM:615837
HP:0012373	Abnormal eye physiology	5591	PRKDC	OMIM:615966
HP:0012373	Abnormal eye physiology	51128	SAR1B	ORPHA:71
HP:0012373	Abnormal eye physiology	760	CA2	OMIM:259730
HP:0012373	Abnormal eye physiology	10229	COQ7	OMIM:616733
HP:0012373	Abnormal eye physiology	57572	DOCK6	OMIM:614219
HP:0012373	Abnormal eye physiology	9842	PLEKHM1	ORPHA:210110
HP:0012373	Abnormal eye physiology	112858	TP53RK	OMIM:617730
HP:0012373	Abnormal eye physiology	56270	WDR45B	OMIM:617977
HP:0012373	Abnormal eye physiology	3931	LCAT	ORPHA:79292
HP:0012373	Abnormal eye physiology	54676	GTPBP2	OMIM:617988
HP:0012373	Abnormal eye physiology	3920	LAMP2	OMIM:300257
HP:0012373	Abnormal eye physiology	119559	SFXN4	OMIM:615578
HP:0012373	Abnormal eye physiology	51294	PCDH12	OMIM:251280
HP:0012373	Abnormal eye physiology	5430	POLR2A	OMIM:618603
HP:0012373	Abnormal eye physiology	23592	LEMD3	ORPHA:1306
HP:0012373	Abnormal eye physiology	406932	MIR140	OMIM:618618
HP:0012373	Abnormal eye physiology	7528	YY1	ORPHA:506358
HP:0012373	Abnormal eye physiology	7528	YY1	OMIM:617557
HP:0012373	Abnormal eye physiology	8036	SHOC2	OMIM:607721
HP:0012373	Abnormal eye physiology	2673	GFPT1	OMIM:608931
HP:0012373	Abnormal eye physiology	2673	GFPT1	OMIM:610542
HP:0012373	Abnormal eye physiology	2673	GFPT1	ORPHA:353327
HP:0012373	Abnormal eye physiology	23141	ANKLE2	OMIM:616681
HP:0012373	Abnormal eye physiology	10617	STAMBP	OMIM:614261
HP:0012373	Abnormal eye physiology	1024	CDK8	OMIM:618748
HP:0012373	Abnormal eye physiology	7021	TFAP2B	OMIM:169100
HP:0012373	Abnormal eye physiology	7021	TFAP2B	ORPHA:46627
HP:0012373	Abnormal eye physiology	84334	COA8	ORPHA:436271
HP:0012373	Abnormal eye physiology	3190	HNRNPK	ORPHA:453504
HP:0012373	Abnormal eye physiology	3190	HNRNPK	OMIM:616580
HP:0012373	Abnormal eye physiology	3190	HNRNPK	ORPHA:352665
HP:0012373	Abnormal eye physiology	6536	SLC6A9	OMIM:617301
HP:0012373	Abnormal eye physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012373	Abnormal eye physiology	5184	PEPD	OMIM:170100
HP:0012373	Abnormal eye physiology	129563	DIS3L2	ORPHA:2849
HP:0012373	Abnormal eye physiology	3980	LIG3	ORPHA:298
HP:0012373	Abnormal eye physiology	7054	TH	OMIM:605407
HP:0012373	Abnormal eye physiology	7054	TH	ORPHA:101150
HP:0012373	Abnormal eye physiology	129685	TAF8	OMIM:619972
HP:0012373	Abnormal eye physiology	10584	COLEC10	OMIM:248340
HP:0012373	Abnormal eye physiology	10584	COLEC10	ORPHA:293843
HP:0012373	Abnormal eye physiology	284058	KANSL1	ORPHA:363958
HP:0012373	Abnormal eye physiology	284058	KANSL1	OMIM:610443
HP:0012373	Abnormal eye physiology	284058	KANSL1	ORPHA:363965
HP:0012373	Abnormal eye physiology	199857	ALG14	OMIM:616227
HP:0012373	Abnormal eye physiology	199857	ALG14	ORPHA:353327
HP:0012373	Abnormal eye physiology	9581	PREPL	OMIM:616224
HP:0012373	Abnormal eye physiology	9581	PREPL	ORPHA:163690
HP:0012373	Abnormal eye physiology	311	ANXA11	OMIM:619733
HP:0012373	Abnormal eye physiology	1009	CDH11	OMIM:619736
HP:0012373	Abnormal eye physiology	64359	NXN	ORPHA:1507
HP:0012373	Abnormal eye physiology	4920	ROR2	ORPHA:1507
HP:0012373	Abnormal eye physiology	4620	MYH2	OMIM:605637
HP:0012373	Abnormal eye physiology	8726	EED	OMIM:617561
HP:0012373	Abnormal eye physiology	5159	PDGFRB	OMIM:616592
HP:0012373	Abnormal eye physiology	4297	KMT2A	ORPHA:319182
HP:0012373	Abnormal eye physiology	84314	TMEM107	OMIM:617563
HP:0012373	Abnormal eye physiology	55623	THUMPD1	OMIM:619989
HP:0012373	Abnormal eye physiology	8642	DCHS1	OMIM:601390
HP:0012373	Abnormal eye physiology	8879	SGPL1	OMIM:617575
HP:0012373	Abnormal eye physiology	7862	BRPF1	OMIM:617333
HP:0012373	Abnormal eye physiology	57680	CHD8	OMIM:615032
HP:0012373	Abnormal eye physiology	26137	ZBTB20	OMIM:259050
HP:0012373	Abnormal eye physiology	7358	UGDH	OMIM:618792
HP:0012373	Abnormal eye physiology	163175	LGI4	OMIM:617468
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:618436
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:178110
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:193700
HP:0012373	Abnormal eye physiology	4621	MYH3	ORPHA:2053
HP:0012373	Abnormal eye physiology	4621	MYH3	ORPHA:2990
HP:0012373	Abnormal eye physiology	10667	FARS2	ORPHA:466722
HP:0012373	Abnormal eye physiology	57688	ZSWIM6	OMIM:603671
HP:0012373	Abnormal eye physiology	57688	ZSWIM6	ORPHA:1827
HP:0012373	Abnormal eye physiology	4626	MYH8	OMIM:158300
HP:0012373	Abnormal eye physiology	4626	MYH8	ORPHA:3377
HP:0012373	Abnormal eye physiology	10463	SLC30A9	OMIM:617595
HP:0012373	Abnormal eye physiology	10516	FBLN5	ORPHA:90348
HP:0012373	Abnormal eye physiology	6578	SLCO2A1	OMIM:167100
HP:0012373	Abnormal eye physiology	6578	SLCO2A1	ORPHA:2796
HP:0012373	Abnormal eye physiology	257	ALX3	OMIM:136760
HP:0012373	Abnormal eye physiology	257	ALX3	ORPHA:391474
HP:0012373	Abnormal eye physiology	10262	SF3B4	ORPHA:245
HP:0012373	Abnormal eye physiology	10533	ATG7	OMIM:619422
HP:0012373	Abnormal eye physiology	4633	MYL2	OMIM:619424
HP:0012373	Abnormal eye physiology	8621	CDK13	OMIM:617360
HP:0012373	Abnormal eye physiology	9427	ECEL1	OMIM:615065
HP:0012373	Abnormal eye physiology	3658	IREB2	OMIM:618451
HP:0012373	Abnormal eye physiology	84188	FAR1	OMIM:616154
HP:0012373	Abnormal eye physiology	84188	FAR1	ORPHA:438178
HP:0012373	Abnormal eye physiology	7273	TTN	OMIM:611705
HP:0012373	Abnormal eye physiology	2737	GLI3	ORPHA:672
HP:0012373	Abnormal eye physiology	55217	TMLHE	OMIM:300872
HP:0012373	Abnormal eye physiology	5898	RALA	OMIM:619311
HP:0012373	Abnormal eye physiology	6477	SIAH1	OMIM:619314
HP:0012373	Abnormal eye physiology	10765	KDM5B	OMIM:618109
HP:0012373	Abnormal eye physiology	79912	PYROXD1	OMIM:617258
HP:0012373	Abnormal eye physiology	9256	TSPOAP1	ORPHA:101150
HP:0012373	Abnormal eye physiology	2671	GFER	ORPHA:330054
HP:0012373	Abnormal eye physiology	3714	JAG2	OMIM:619566
HP:0012373	Abnormal eye physiology	79048	SECISBP2	ORPHA:171706
HP:0012373	Abnormal eye physiology	26128	KIFBP	ORPHA:66629
HP:0012373	Abnormal eye physiology	26128	KIFBP	OMIM:609460
HP:0012373	Abnormal eye physiology	6601	SMARCC2	OMIM:618362
HP:0012373	Abnormal eye physiology	6601	SMARCC2	ORPHA:1465
HP:0012373	Abnormal eye physiology	54496	PRMT7	OMIM:617157
HP:0012373	Abnormal eye physiology	1108	CHD4	OMIM:617159
HP:0012373	Abnormal eye physiology	4000	LMNA	OMIM:212112
HP:0012373	Abnormal eye physiology	4000	LMNA	ORPHA:2229
HP:0012373	Abnormal eye physiology	4000	LMNA	ORPHA:98853
HP:0012373	Abnormal eye physiology	23389	MED13L	ORPHA:369891
HP:0012373	Abnormal eye physiology	1312	COMT	ORPHA:567
HP:0012373	Abnormal eye physiology	221037	JMJD1C	ORPHA:567
HP:0012373	Abnormal eye physiology	6239	RREB1	ORPHA:567
HP:0012373	Abnormal eye physiology	7290	HIRA	ORPHA:567
HP:0012373	Abnormal eye physiology	9632	SEC24C	ORPHA:567
HP:0012373	Abnormal eye physiology	7353	UFD1	ORPHA:567
HP:0012373	Abnormal eye physiology	421	ARVCF	ORPHA:567
HP:0012373	Abnormal eye physiology	5805	PTS	ORPHA:13
HP:0012373	Abnormal eye physiology	2064	ERBB2	OMIM:619465
HP:0012373	Abnormal eye physiology	7317	UBA1	OMIM:301830
HP:0012373	Abnormal eye physiology	8802	SUCLG1	ORPHA:17
HP:0012373	Abnormal eye physiology	5144	PDE4D	ORPHA:439822
HP:0012373	Abnormal eye physiology	2065	ERBB3	OMIM:243180
HP:0012373	Abnormal eye physiology	10771	ZMYND11	OMIM:616083
HP:0012373	Abnormal eye physiology	2892	GRIA3	ORPHA:364028
HP:0012373	Abnormal eye physiology	80036	TRPM3	OMIM:620224
HP:0012373	Abnormal eye physiology	3248	HPGD	OMIM:259100
HP:0012373	Abnormal eye physiology	3248	HPGD	ORPHA:2796
HP:0012373	Abnormal eye physiology	5728	PTEN	ORPHA:744
HP:0012373	Abnormal eye physiology	1457	CSNK2A1	OMIM:617062
HP:0012373	Abnormal eye physiology	226	ALDOA	OMIM:611881
HP:0012373	Abnormal eye physiology	7169	TPM2	OMIM:108120
HP:0012373	Abnormal eye physiology	7169	TPM2	ORPHA:171436
HP:0012373	Abnormal eye physiology	7169	TPM2	ORPHA:171439
HP:0012373	Abnormal eye physiology	55252	ASXL2	OMIM:617190
HP:0012373	Abnormal eye physiology	4286	MITF	ORPHA:895
HP:0012373	Abnormal eye physiology	6591	SNAI2	ORPHA:895
HP:0012373	Abnormal eye physiology	4254	KITLG	ORPHA:895
HP:0012373	Abnormal eye physiology	80267	EDEM3	OMIM:619493
HP:0012373	Abnormal eye physiology	6571	SLC18A2	OMIM:618049
HP:0012373	Abnormal eye physiology	6571	SLC18A2	ORPHA:352649
HP:0012373	Abnormal eye physiology	2733	GLE1	OMIM:611890
HP:0012373	Abnormal eye physiology	83737	ITCH	ORPHA:228426
HP:0012373	Abnormal eye physiology	83737	ITCH	OMIM:613385
HP:0012373	Abnormal eye physiology	124454	EARS2	OMIM:614924
HP:0012373	Abnormal eye physiology	11011	TLK2	OMIM:618050
HP:0012373	Abnormal eye physiology	7042	TGFB2	OMIM:614816
HP:0012373	Abnormal eye physiology	6535	SLC6A8	OMIM:300352
HP:0012373	Abnormal eye physiology	6535	SLC6A8	ORPHA:52503
HP:0012373	Abnormal eye physiology	6309	SC5D	ORPHA:46059
HP:0012373	Abnormal eye physiology	6309	SC5D	OMIM:607330
HP:0012373	Abnormal eye physiology	8506	CNTNAP1	OMIM:618186
HP:0012373	Abnormal eye physiology	161742	SPRED1	OMIM:611431
HP:0012373	Abnormal eye physiology	400916	CHCHD10	OMIM:615911
HP:0012373	Abnormal eye physiology	400916	CHCHD10	ORPHA:275872
HP:0012373	Abnormal eye physiology	7415	VCP	ORPHA:275872
HP:0012373	Abnormal eye physiology	23435	TARDBP	ORPHA:275872
HP:0012373	Abnormal eye physiology	29110	TBK1	ORPHA:275872
HP:0012373	Abnormal eye physiology	57176	VARS2	OMIM:615917
HP:0012373	Abnormal eye physiology	23118	TAB2	ORPHA:228410
HP:0012373	Abnormal eye physiology	58	ACTA1	ORPHA:171436
HP:0012373	Abnormal eye physiology	58	ACTA1	ORPHA:171439
HP:0012373	Abnormal eye physiology	4703	NEB	ORPHA:171436
HP:0012373	Abnormal eye physiology	4703	NEB	ORPHA:171439
HP:0012373	Abnormal eye physiology	10324	KLHL41	ORPHA:171436
HP:0012373	Abnormal eye physiology	10324	KLHL41	ORPHA:171439
HP:0012373	Abnormal eye physiology	56203	LMOD3	ORPHA:171436
HP:0012373	Abnormal eye physiology	1073	CFL2	ORPHA:171436
HP:0012373	Abnormal eye physiology	274	BIN1	OMIM:255200
HP:0012373	Abnormal eye physiology	274	BIN1	ORPHA:169189
HP:0012373	Abnormal eye physiology	8289	ARID1A	OMIM:614607
HP:0012373	Abnormal eye physiology	8289	ARID1A	ORPHA:1465
HP:0012373	Abnormal eye physiology	6597	SMARCA4	OMIM:614609
HP:0012373	Abnormal eye physiology	6597	SMARCA4	ORPHA:1465
HP:0012373	Abnormal eye physiology	55148	UBR7	OMIM:619189
HP:0012373	Abnormal eye physiology	7170	TPM3	OMIM:255310
HP:0012373	Abnormal eye physiology	7170	TPM3	ORPHA:171439
HP:0012373	Abnormal eye physiology	1906	EDN1	ORPHA:137888
HP:0012373	Abnormal eye physiology	5332	PLCB4	ORPHA:137888
HP:0012373	Abnormal eye physiology	5332	PLCB4	OMIM:614669
HP:0012373	Abnormal eye physiology	2773	GNAI3	ORPHA:137888
HP:0012373	Abnormal eye physiology	3265	HRAS	OMIM:218040
HP:0012373	Abnormal eye physiology	113278	SLC52A3	OMIM:211530
HP:0012373	Abnormal eye physiology	113278	SLC52A3	OMIM:211500
HP:0012373	Abnormal eye physiology	10801	SEPTIN9	OMIM:162100
HP:0012373	Abnormal eye physiology	1267	CNP	OMIM:619071
HP:0012373	Abnormal eye physiology	149371	EXOC8	OMIM:619076
HP:0012373	Abnormal eye physiology	1857	DVL3	ORPHA:3107
HP:0012373	Abnormal eye physiology	7474	WNT5A	ORPHA:3107
HP:0012373	Abnormal eye physiology	1855	DVL1	ORPHA:3107
HP:0012373	Abnormal eye physiology	2535	FZD2	ORPHA:3107
HP:0012373	Abnormal eye physiology	54499	TMCO1	OMIM:213980
HP:0012373	Abnormal eye physiology	78989	COLEC11	OMIM:265050
HP:0012373	Abnormal eye physiology	78989	COLEC11	ORPHA:293843
HP:0012373	Abnormal eye physiology	1785	DNM2	OMIM:160150
HP:0012373	Abnormal eye physiology	1785	DNM2	ORPHA:169189
HP:0012373	Abnormal eye physiology	64419	MTMR14	OMIM:160150
HP:0012373	Abnormal eye physiology	64419	MTMR14	ORPHA:169189
HP:0012373	Abnormal eye physiology	5594	MAPK1	OMIM:619087
HP:0012373	Abnormal eye physiology	55906	ZC4H2	ORPHA:3454
HP:0012373	Abnormal eye physiology	55906	ZC4H2	OMIM:301041
HP:0012373	Abnormal eye physiology	55906	ZC4H2	OMIM:314580
HP:0012373	Abnormal eye physiology	6949	TCOF1	OMIM:154500
HP:0012373	Abnormal eye physiology	84665	MYPN	ORPHA:171439
HP:0012373	Abnormal eye physiology	390594	KBTBD13	ORPHA:171439
HP:0012373	Abnormal eye physiology	84317	CCDC115	OMIM:616828
HP:0012373	Abnormal eye physiology	2273	FHL1	ORPHA:98863
HP:0012373	Abnormal eye physiology	2010	EMD	ORPHA:98863
HP:0012373	Abnormal eye physiology	2245	FGD1	ORPHA:915
HP:0012373	Abnormal eye physiology	2245	FGD1	OMIM:305400
HP:0012373	Abnormal eye physiology	6664	SOX11	OMIM:615866
HP:0012373	Abnormal eye physiology	6664	SOX11	ORPHA:1465
HP:0012373	Abnormal eye physiology	23534	TNPO3	OMIM:608423
HP:0012373	Abnormal eye physiology	3720	JARID2	OMIM:620098
HP:0012373	Abnormal eye physiology	79188	TMEM43	ORPHA:98853
HP:0012373	Abnormal eye physiology	23224	SYNE2	ORPHA:98853
HP:0012373	Abnormal eye physiology	5648	MASP1	OMIM:257920
HP:0012373	Abnormal eye physiology	5648	MASP1	ORPHA:293843
HP:0012373	Abnormal eye physiology	89970	RSPRY1	OMIM:616723
HP:0012373	Abnormal eye physiology	7545	ZIC1	OMIM:616602
HP:0012373	Abnormal eye physiology	7545	ZIC1	OMIM:618736
HP:0012373	Abnormal eye physiology	4618	MYF6	ORPHA:169189
HP:0012373	Abnormal eye physiology	56997	COQ8A	OMIM:612016
HP:0012373	Abnormal eye physiology	10982	MAPRE2	OMIM:616734
HP:0012373	Abnormal eye physiology	26224	FBXL3	OMIM:606220
HP:0012373	Abnormal eye physiology	6659	SOX4	ORPHA:1465
HP:0012373	Abnormal eye physiology	5977	DPF2	ORPHA:1465
HP:0012373	Abnormal eye physiology	6602	SMARCD1	ORPHA:1465
HP:0012373	Abnormal eye physiology	196528	ARID2	ORPHA:1465
HP:0012373	Abnormal eye physiology	10616	RBCK1	OMIM:615895
HP:0012373	Abnormal eye physiology	2186	BPTF	ORPHA:529962
HP:0012373	Abnormal eye physiology	79633	FAT4	OMIM:615546
HP:0012373	Abnormal eye physiology	2313	FLI1	ORPHA:2308
HP:0012373	Abnormal eye physiology	71	ACTG1	OMIM:614583
HP:0012373	Abnormal eye physiology	71	ACTG1	ORPHA:2995
HP:0012373	Abnormal eye physiology	8092	ALX1	ORPHA:306542
HP:0012373	Abnormal eye physiology	6938	TCF12	OMIM:615314
HP:0012373	Abnormal eye physiology	84617	TUBB6	OMIM:617732
HP:0012373	Abnormal eye physiology	1861	TOR1A	OMIM:618947
HP:0012373	Abnormal eye physiology	4659	PPP1R12A	OMIM:618820
HP:0012373	Abnormal eye physiology	6697	SPR	ORPHA:70594
HP:0012373	Abnormal eye physiology	51124	IER3IP1	OMIM:614231
HP:0012373	Abnormal eye physiology	54870	QRICH1	OMIM:617982
HP:0012373	Abnormal eye physiology	114928	GPRASP2	OMIM:301018
HP:0012373	Abnormal eye physiology	28957	MRPS28	OMIM:618958
HP:0012373	Abnormal eye physiology	2625	GATA3	OMIM:146255
HP:0012373	Abnormal eye physiology	6519	SLC3A1	ORPHA:163690
HP:0012373	Abnormal eye physiology	617	BCS1L	OMIM:124000
HP:0012373	Abnormal eye physiology	1537	CYC1	OMIM:615453
HP:0012373	Abnormal eye physiology	84700	MYO18B	OMIM:616549
HP:0012373	Abnormal eye physiology	9939	RBM8A	OMIM:274000
HP:0012373	Abnormal eye physiology	7043	TGFB3	OMIM:615582
HP:0012373	Abnormal eye physiology	10736	SIX2	ORPHA:488437
HP:0012373	Abnormal eye physiology	4281	MID1	ORPHA:2745
HP:0012373	Abnormal eye physiology	4654	MYOD1	OMIM:618975
HP:0012373	Abnormal eye physiology	58499	ZNF462	OMIM:618619
HP:0012373	Abnormal eye physiology	695	BTK	OMIM:300755
HP:0012373	Abnormal eye physiology	695	BTK	ORPHA:47
HP:0012373	Abnormal eye physiology	695	BTK	OMIM:307200
HP:0012373	Abnormal eye physiology	930	CD19	OMIM:613493
HP:0012373	Abnormal eye physiology	930	CD19	OMIM:240500
HP:0012373	Abnormal eye physiology	987	LRBA	OMIM:614700
HP:0012373	Abnormal eye physiology	3507	IGHM	OMIM:601495
HP:0012373	Abnormal eye physiology	3507	IGHM	ORPHA:33110
HP:0012373	Abnormal eye physiology	8676	STX11	OMIM:603552
HP:0012373	Abnormal eye physiology	5896	RAG1	OMIM:601457
HP:0012373	Abnormal eye physiology	5897	RAG2	OMIM:601457
HP:0012373	Abnormal eye physiology	1294	COL7A1	OMIM:226600
HP:0012373	Abnormal eye physiology	4312	MMP1	OMIM:226600
HP:0012373	Abnormal eye physiology	974	CD79B	OMIM:612692
HP:0012373	Abnormal eye physiology	974	CD79B	ORPHA:33110
HP:0012373	Abnormal eye physiology	7132	TNFRSF1A	ORPHA:32960
HP:0012373	Abnormal eye physiology	7132	TNFRSF1A	OMIM:142680
HP:0012373	Abnormal eye physiology	7086	TKT	ORPHA:488618
HP:0012373	Abnormal eye physiology	29851	ICOS	OMIM:607594
HP:0012373	Abnormal eye physiology	29851	ICOS	OMIM:240500
HP:0012373	Abnormal eye physiology	23495	TNFRSF13B	OMIM:240500
HP:0012373	Abnormal eye physiology	115650	TNFRSF13C	OMIM:240500
HP:0012373	Abnormal eye physiology	1380	CR2	OMIM:240500
HP:0012373	Abnormal eye physiology	55612	FERMT1	ORPHA:2908
HP:0012373	Abnormal eye physiology	5692	PSMB4	OMIM:617591
HP:0012373	Abnormal eye physiology	5698	PSMB9	OMIM:617591
HP:0012373	Abnormal eye physiology	7037	TFRC	OMIM:616740
HP:0012373	Abnormal eye physiology	54809	SAMD9	OMIM:610455
HP:0012373	Abnormal eye physiology	6929	TCF3	ORPHA:33110
HP:0012373	Abnormal eye physiology	973	CD79A	ORPHA:33110
HP:0012373	Abnormal eye physiology	3543	IGLL1	ORPHA:33110
HP:0012373	Abnormal eye physiology	29760	BLNK	ORPHA:33110
HP:0012373	Abnormal eye physiology	56262	LRRC8A	ORPHA:33110
HP:0012373	Abnormal eye physiology	10577	NPC2	OMIM:607625
HP:0012373	Abnormal eye physiology	8659	ALDH4A1	ORPHA:79101
HP:0012373	Abnormal eye physiology	4864	NPC1	OMIM:257220
HP:0012373	Abnormal eye physiology	5610	EIF2AK2	OMIM:619687
HP:0012373	Abnormal eye physiology	8309	ACOX2	OMIM:617308
HP:0012373	Abnormal eye physiology	1639	DCTN1	OMIM:168605
HP:0012373	Abnormal eye physiology	440193	CCDC88C	ORPHA:423275
HP:0012373	Abnormal eye physiology	220074	LRTOMT	OMIM:611451
HP:0012373	Abnormal eye physiology	3030	HADHA	ORPHA:5
HP:0012373	Abnormal eye physiology	8803	SUCLA2	ORPHA:1933
HP:0012373	Abnormal eye physiology	4854	NOTCH3	OMIM:125310
HP:0012373	Abnormal eye physiology	23446	SLC44A1	OMIM:618868
HP:0012373	Abnormal eye physiology	6472	SHMT2	OMIM:619121
HP:0012373	Abnormal eye physiology	5173	PDYN	ORPHA:101108
HP:0012373	Abnormal eye physiology	5173	PDYN	OMIM:610245
HP:0012373	Abnormal eye physiology	7143	TNR	OMIM:619653
HP:0012373	Abnormal eye physiology	84274	COQ5	OMIM:619028
HP:0012373	Abnormal eye physiology	25793	FBXO7	ORPHA:171695
HP:0012373	Abnormal eye physiology	25793	FBXO7	OMIM:260300
HP:0012373	Abnormal eye physiology	6622	SNCA	ORPHA:171695
HP:0012373	Abnormal eye physiology	8449	DHX16	OMIM:618733
HP:0012373	Abnormal eye physiology	6342	SCP2	OMIM:613724
HP:0012373	Abnormal eye physiology	9071	CLDN10	OMIM:617671
HP:0012373	Abnormal eye physiology	6558	SLC12A2	OMIM:619080
HP:0012373	Abnormal eye physiology	8567	MADD	OMIM:619004
HP:0012373	Abnormal eye physiology	8567	MADD	OMIM:619005
HP:0012373	Abnormal eye physiology	5075	PAX1	OMIM:615560
HP:0012373	Abnormal eye physiology	667	DST	OMIM:614653
HP:0012373	Abnormal eye physiology	26040	SETBP1	ORPHA:798
HP:0012373	Abnormal eye physiology	54982	CLN6	OMIM:601780
HP:0012373	Abnormal eye physiology	4036	LRP2	OMIM:222448
HP:0012373	Abnormal eye physiology	4036	LRP2	ORPHA:2143
HP:0012373	Abnormal eye physiology	79587	CARS2	ORPHA:477774
HP:0012373	Abnormal eye physiology	5538	PPT1	OMIM:256730
HP:0012373	Abnormal eye physiology	1634	DCN	OMIM:610048
HP:0012373	Abnormal eye physiology	2055	CLN8	ORPHA:1947
HP:0012373	Abnormal eye physiology	2055	CLN8	OMIM:600143
HP:0012373	Abnormal eye physiology	83636	C19orf12	OMIM:614298
HP:0012373	Abnormal eye physiology	27130	INVS	ORPHA:3156
HP:0012373	Abnormal eye physiology	27031	NPHP3	ORPHA:3156
HP:0012373	Abnormal eye physiology	4763	NF1	ORPHA:97685
HP:0012373	Abnormal eye physiology	4750	NEK1	OMIM:263520
HP:0012373	Abnormal eye physiology	10111	RAD50	OMIM:613078
HP:0012373	Abnormal eye physiology	64919	BCL11B	OMIM:618092
HP:0012373	Abnormal eye physiology	790955	UQCC3	OMIM:616111
HP:0012373	Abnormal eye physiology	11285	B4GALT7	OMIM:130070
HP:0012373	Abnormal eye physiology	22859	ADGRL1	OMIM:620065
HP:0012373	Abnormal eye physiology	79813	EHMT1	ORPHA:261652
HP:0012373	Abnormal eye physiology	58508	KMT2C	ORPHA:261652
HP:0012373	Abnormal eye physiology	81887	LAS1L	ORPHA:3459
HP:0012373	Abnormal eye physiology	63901	FAM111A	OMIM:127000
HP:0012373	Abnormal eye physiology	63901	FAM111A	ORPHA:93325
HP:0012373	Abnormal eye physiology	7707	ZNF148	OMIM:617260
HP:0012373	Abnormal eye physiology	3097	HIVEP2	OMIM:616977
HP:0012373	Abnormal eye physiology	537	ATP6AP1	OMIM:300972
HP:0012373	Abnormal eye physiology	201163	FLCN	OMIM:610883
HP:0012373	Abnormal eye physiology	80152	CENPT	OMIM:618702
HP:0012373	Abnormal eye physiology	2483	FRG1	OMIM:158900
HP:0012373	Abnormal eye physiology	35	ACADS	OMIM:201470
HP:0012373	Abnormal eye physiology	4534	MTM1	OMIM:310400
HP:0012373	Abnormal eye physiology	84572	GNPTG	OMIM:252605
HP:0012373	Abnormal eye physiology	1969	EPHA2	OMIM:116600
HP:0012373	Abnormal eye physiology	4883	NPR3	OMIM:619543
HP:0012373	Abnormal eye physiology	10483	SEC23B	ORPHA:201
HP:0012373	Abnormal eye physiology	6391	SDHC	ORPHA:201
HP:0012373	Abnormal eye physiology	205717	USF3	ORPHA:201
HP:0012373	Abnormal eye physiology	100144748	KLLN	ORPHA:201
HP:0012373	Abnormal eye physiology	9509	ADAMTS2	OMIM:225410
HP:0012373	Abnormal eye physiology	4015	LOX	OMIM:617168
HP:0012373	Abnormal eye physiology	1285	COL4A3	OMIM:203780
HP:0012373	Abnormal eye physiology	1285	COL4A3	OMIM:104200
HP:0012373	Abnormal eye physiology	1286	COL4A4	OMIM:203780
HP:0012373	Abnormal eye physiology	1289	COL5A1	OMIM:130000
HP:0012373	Abnormal eye physiology	6662	SOX9	OMIM:114290
HP:0012373	Abnormal eye physiology	4853	NOTCH2	ORPHA:955
HP:0012373	Abnormal eye physiology	8419	BFSP2	OMIM:611597
HP:0012373	Abnormal eye physiology	79228	THOC6	OMIM:613680
HP:0012373	Abnormal eye physiology	55033	FKBP14	OMIM:614557
HP:0012373	Abnormal eye physiology	55033	FKBP14	ORPHA:300179
HP:0012373	Abnormal eye physiology	8985	PLOD3	OMIM:612394
HP:0012373	Abnormal eye physiology	113246	C12orf57	OMIM:218340
HP:0012373	Abnormal eye physiology	8241	RBM10	ORPHA:2886
HP:0012373	Abnormal eye physiology	170692	ADAMTS18	OMIM:615458
HP:0012373	Abnormal eye physiology	356	FASLG	ORPHA:3261
HP:0012373	Abnormal eye physiology	5580	PRKCD	ORPHA:3261
HP:0012373	Abnormal eye physiology	843	CASP10	ORPHA:3261
HP:0012373	Abnormal eye physiology	10125	RASGRP1	ORPHA:3261
HP:0012373	Abnormal eye physiology	2859	GPR35	ORPHA:171
HP:0012373	Abnormal eye physiology	10507	SEMA4D	ORPHA:171
HP:0012373	Abnormal eye physiology	4485	MST1	ORPHA:171
HP:0012373	Abnormal eye physiology	641	BLM	ORPHA:125
HP:0012373	Abnormal eye physiology	939	CD27	OMIM:615122
HP:0012373	Abnormal eye physiology	3662	IRF4	ORPHA:3452
HP:0012373	Abnormal eye physiology	79796	ALG9	OMIM:608776
HP:0012373	Abnormal eye physiology	79796	ALG9	ORPHA:79328
HP:0012373	Abnormal eye physiology	1303	COL12A1	ORPHA:75840
HP:0012373	Abnormal eye physiology	1291	COL6A1	ORPHA:75840
HP:0012373	Abnormal eye physiology	1292	COL6A2	ORPHA:75840
HP:0012373	Abnormal eye physiology	1293	COL6A3	ORPHA:75840
HP:0012373	Abnormal eye physiology	388015	RTL1	ORPHA:254528
HP:0012373	Abnormal eye physiology	8788	DLK1	ORPHA:254528
HP:0012373	Abnormal eye physiology	55384	MEG3	ORPHA:254528
HP:0012373	Abnormal eye physiology	84720	PIGO	ORPHA:247262
HP:0012373	Abnormal eye physiology	93210	PGAP3	ORPHA:247262
HP:0012373	Abnormal eye physiology	284098	PIGW	ORPHA:247262
HP:0012373	Abnormal eye physiology	55650	PIGV	ORPHA:247262
HP:0012373	Abnormal eye physiology	9630	GNA14	ORPHA:1063
HP:0012373	Abnormal eye physiology	10484	SEC23A	OMIM:607812
HP:0012373	Abnormal eye physiology	8363	H4C11	OMIM:619759
HP:0012373	Abnormal eye physiology	1528	CYB5A	ORPHA:621
HP:0012373	Abnormal eye physiology	54802	TRIT1	OMIM:617873
HP:0012373	Abnormal eye physiology	23154	NCDN	OMIM:619373
HP:0012373	Abnormal eye physiology	1284	COL4A2	OMIM:614483
HP:0012373	Abnormal eye physiology	84148	KAT8	OMIM:618974
HP:0012373	Abnormal eye physiology	57462	MYORG	OMIM:618317
HP:0012373	Abnormal eye physiology	9512	PMPCB	OMIM:617954
HP:0012373	Abnormal eye physiology	10342	TFG	OMIM:615658
HP:0012373	Abnormal eye physiology	1509	CTSD	OMIM:610127
HP:0012373	Abnormal eye physiology	80216	ALPK1	OMIM:614979
HP:0012373	Abnormal eye physiology	2624	GATA2	ORPHA:3226
HP:0012373	Abnormal eye physiology	10319	LAMC3	OMIM:614115
HP:0012373	Abnormal eye physiology	7428	VHL	ORPHA:892
HP:0012373	Abnormal eye physiology	595	CCND1	ORPHA:892
HP:0012373	Abnormal eye physiology	63916	ELMO2	OMIM:606893
HP:0012373	Abnormal eye physiology	7957	EPM2A	OMIM:254780
HP:0012373	Abnormal eye physiology	378884	NHLRC1	OMIM:254780
HP:0012373	Abnormal eye physiology	2639	GCDH	ORPHA:25
HP:0012373	Abnormal eye physiology	3458	IFNG	ORPHA:88
HP:0012373	Abnormal eye physiology	5551	PRF1	ORPHA:88
HP:0012373	Abnormal eye physiology	51119	SBDS	ORPHA:88
HP:0012373	Abnormal eye physiology	4615	MYD88	ORPHA:33226
HP:0012373	Abnormal eye physiology	55325	UFSP2	OMIM:620028
HP:0012373	Abnormal eye physiology	36	ACADSB	OMIM:610006
HP:0012373	Abnormal eye physiology	51651	PTRH2	ORPHA:456312
HP:0012373	Abnormal eye physiology	51651	PTRH2	OMIM:616263
HP:0012373	Abnormal eye physiology	3188	HNRNPH2	OMIM:300986
HP:0012373	Abnormal eye physiology	283209	PGM2L1	OMIM:620191
HP:0012373	Abnormal eye physiology	4088	SMAD3	OMIM:613795
HP:0012373	Abnormal eye physiology	7046	TGFBR1	OMIM:609192
HP:0012373	Abnormal eye physiology	4564	MT-TH	ORPHA:550
HP:0012373	Abnormal eye physiology	4576	MT-TT	ORPHA:254857
HP:0012373	Abnormal eye physiology	4509	MT-ATP8	ORPHA:480
HP:0012373	Abnormal eye physiology	100134444	KCNJ18	ORPHA:79102
HP:0012373	Abnormal eye physiology	10290	SPEG	ORPHA:169186
HP:0012373	Abnormal eye physiology	10290	SPEG	OMIM:615959
HP:0012373	Abnormal eye physiology	131377	KLHL40	ORPHA:171430
HP:0012373	Abnormal eye physiology	7259	TSPYL1	ORPHA:168593
HP:0012373	Abnormal eye physiology	8888	MCM3AP	OMIM:618124
HP:0012373	Abnormal eye physiology	57190	SELENON	ORPHA:2020
HP:0012373	Abnormal eye physiology	3679	ITGA7	ORPHA:2020
HP:0012373	Abnormal eye physiology	9200	HACD1	ORPHA:2020
HP:0012373	Abnormal eye physiology	51776	MAP3K20	ORPHA:2020
HP:0012373	Abnormal eye physiology	6305	SBF1	OMIM:615284
HP:0012373	Abnormal eye physiology	55739	NAXD	OMIM:618321
HP:0012373	Abnormal eye physiology	84833	ATP5MK	OMIM:618683
HP:0012373	Abnormal eye physiology	779	CACNA1S	OMIM:620246
HP:0012373	Abnormal eye physiology	203228	C9orf72	OMIM:105550
HP:0012373	Abnormal eye physiology	4047	LSS	ORPHA:2850
HP:0012373	Abnormal eye physiology	197	AHSG	ORPHA:2850
HP:0012373	Abnormal eye physiology	3694	ITGB6	ORPHA:2850
HP:0012373	Abnormal eye physiology	5111	PCNA	OMIM:615919
HP:0012373	Abnormal eye physiology	5111	PCNA	ORPHA:438134
HP:0012373	Abnormal eye physiology	8754	ADAM9	ORPHA:1872
HP:0012373	Abnormal eye physiology	22999	RIMS1	ORPHA:1872
HP:0012373	Abnormal eye physiology	9094	UNC119	ORPHA:1872
HP:0012373	Abnormal eye physiology	200576	PIKFYVE	OMIM:121850
HP:0012373	Abnormal eye physiology	105371045	PERCC1	ORPHA:92050
HP:0012373	Abnormal eye physiology	80326	WNT10A	OMIM:257980
HP:0012373	Abnormal eye physiology	80326	WNT10A	OMIM:150400
HP:0012373	Abnormal eye physiology	1909	EDNRA	OMIM:157300
HP:0012373	Abnormal eye physiology	2099	ESR1	OMIM:157300
HP:0012373	Abnormal eye physiology	7124	TNF	OMIM:157300
HP:0012373	Abnormal eye physiology	2303	FOXC2	ORPHA:33001
HP:0012373	Abnormal eye physiology	2303	FOXC2	OMIM:153400
HP:0012373	Abnormal eye physiology	5429	POLH	ORPHA:90342
HP:0012373	Abnormal eye physiology	5429	POLH	OMIM:278750
HP:0012373	Abnormal eye physiology	10320	IKZF1	ORPHA:36426
HP:0012373	Abnormal eye physiology	388531	RGS9BP	ORPHA:75374
HP:0012373	Abnormal eye physiology	5422	POLA1	OMIM:301220
HP:0012373	Abnormal eye physiology	2990	GUSB	OMIM:253220
HP:0012373	Abnormal eye physiology	55733	HHAT	ORPHA:1422
HP:0012373	Abnormal eye physiology	84876	ORAI1	ORPHA:3204
HP:0012373	Abnormal eye physiology	84876	ORAI1	OMIM:615883
HP:0012373	Abnormal eye physiology	6786	STIM1	ORPHA:3204
HP:0012373	Abnormal eye physiology	6786	STIM1	OMIM:185070
HP:0012373	Abnormal eye physiology	1644	DDC	OMIM:608643
HP:0012373	Abnormal eye physiology	341640	FREM2	ORPHA:2052
HP:0012373	Abnormal eye physiology	80144	FRAS1	ORPHA:2052
HP:0012373	Abnormal eye physiology	80144	FRAS1	OMIM:219000
HP:0012373	Abnormal eye physiology	23426	GRIP1	ORPHA:2052
HP:0012373	Abnormal eye physiology	5351	PLOD1	OMIM:225400
HP:0012373	Abnormal eye physiology	51569	UFM1	OMIM:617899
HP:0012373	Abnormal eye physiology	54820	NDE1	ORPHA:2177
HP:0012373	Abnormal eye physiology	3073	HEXA	OMIM:272800
HP:0012373	Abnormal eye physiology	3074	HEXB	OMIM:268800
HP:0012373	Abnormal eye physiology	2720	GLB1	ORPHA:79255
HP:0012373	Abnormal eye physiology	29954	POMT2	OMIM:236670
HP:0012373	Abnormal eye physiology	29954	POMT2	ORPHA:370959
HP:0012373	Abnormal eye physiology	9215	LARGE1	OMIM:236670
HP:0012373	Abnormal eye physiology	79147	FKRP	OMIM:236670
HP:0012373	Abnormal eye physiology	79147	FKRP	ORPHA:370959
HP:0012373	Abnormal eye physiology	10585	POMT1	OMIM:236670
HP:0012373	Abnormal eye physiology	10585	POMT1	ORPHA:370959
HP:0012373	Abnormal eye physiology	2218	FKTN	OMIM:236670
HP:0012373	Abnormal eye physiology	60	ACTB	ORPHA:79107
HP:0012373	Abnormal eye physiology	5230	PGK1	ORPHA:713
HP:0012373	Abnormal eye physiology	81794	ADAMTS10	OMIM:277600
HP:0012373	Abnormal eye physiology	11041	B4GAT1	OMIM:615287
HP:0012373	Abnormal eye physiology	5627	PROS1	OMIM:614514
HP:0012373	Abnormal eye physiology	5340	PLG	OMIM:217090
HP:0012373	Abnormal eye physiology	2811	GP1BA	ORPHA:853
HP:0012373	Abnormal eye physiology	2812	GP1BB	ORPHA:853
HP:0012373	Abnormal eye physiology	3674	ITGA2B	ORPHA:853
HP:0012373	Abnormal eye physiology	3673	ITGA2	ORPHA:853
HP:0012373	Abnormal eye physiology	135228	CD109	ORPHA:853
HP:0012373	Abnormal eye physiology	3690	ITGB3	ORPHA:853
HP:0012373	Abnormal eye physiology	5296	PIK3R2	OMIM:603387
HP:0012373	Abnormal eye physiology	10084	PQBP1	OMIM:309500
HP:0012373	Abnormal eye physiology	80025	PANK2	ORPHA:216873
HP:0012373	Abnormal eye physiology	80025	PANK2	ORPHA:216866
HP:0012373	Abnormal eye physiology	9928	KIF14	OMIM:617914
HP:0012373	Abnormal eye physiology	1967	EIF2B1	OMIM:603896
HP:0012373	Abnormal eye physiology	148789	B3GALNT2	OMIM:615181
HP:0012373	Abnormal eye physiology	2760	GM2A	OMIM:272750
HP:0012373	Abnormal eye physiology	335	APOA1	ORPHA:425
HP:0012373	Abnormal eye physiology	6559	SLC12A3	OMIM:263800
HP:0012373	Abnormal eye physiology	6559	SLC12A3	ORPHA:358
HP:0012373	Abnormal eye physiology	1188	CLCNKB	ORPHA:358
HP:0012373	Abnormal eye physiology	5077	PAX3	ORPHA:894
HP:0012373	Abnormal eye physiology	117581	TWIST2	ORPHA:1807
HP:0012373	Abnormal eye physiology	2138	EYA1	OMIM:113650
HP:0012373	Abnormal eye physiology	6495	SIX1	OMIM:113650
HP:0012373	Abnormal eye physiology	85446	ZFHX2	OMIM:147430
HP:0012373	Abnormal eye physiology	197131	UBR1	ORPHA:2315
HP:0012373	Abnormal eye physiology	162	AP1B1	OMIM:242150
HP:0012373	Abnormal eye physiology	3977	LIFR	OMIM:601559
HP:0012373	Abnormal eye physiology	59335	PRDM12	OMIM:616488
HP:0012373	Abnormal eye physiology	101929726	MYMX	ORPHA:1358
HP:0012373	Abnormal eye physiology	1718	DHCR24	OMIM:602398
HP:0012373	Abnormal eye physiology	1718	DHCR24	ORPHA:35107
HP:0012373	Abnormal eye physiology	4524	MTHFR	ORPHA:395
HP:0012373	Abnormal eye physiology	26235	FBXL4	OMIM:615471
HP:0012373	Abnormal eye physiology	54507	ADAMTSL4	ORPHA:1885
HP:0012373	Abnormal eye physiology	9254	CACNA2D2	OMIM:618501
HP:0012373	Abnormal eye physiology	7360	UGP2	OMIM:618744
HP:0012373	Abnormal eye physiology	1786	DNMT1	ORPHA:314404
HP:0012373	Abnormal eye physiology	5457	POU4F1	ORPHA:314647
HP:0012373	Abnormal eye physiology	5457	POU4F1	OMIM:619352
HP:0012373	Abnormal eye physiology	23261	CAMTA1	ORPHA:314647
HP:0012373	Abnormal eye physiology	51	ACOX1	ORPHA:2971
HP:0012373	Abnormal eye physiology	51	ACOX1	OMIM:264470
HP:0012373	Abnormal eye physiology	51099	ABHD5	OMIM:275630
HP:0012373	Abnormal eye physiology	51099	ABHD5	ORPHA:98907
HP:0012373	Abnormal eye physiology	6687	SPG7	ORPHA:99013
HP:0012373	Abnormal eye physiology	6687	SPG7	OMIM:607259
HP:0012373	Abnormal eye physiology	4552	MTRR	OMIM:236270
HP:0012373	Abnormal eye physiology	4552	MTRR	ORPHA:2169
HP:0012373	Abnormal eye physiology	65993	MRPS34	OMIM:617664
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	ORPHA:220497
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	OMIM:611560
HP:0012373	Abnormal eye physiology	4867	NPHP1	ORPHA:220497
HP:0012373	Abnormal eye physiology	4867	NPHP1	ORPHA:110
HP:0012373	Abnormal eye physiology	4867	NPHP1	OMIM:609583
HP:0012373	Abnormal eye physiology	54903	MKS1	ORPHA:220493
HP:0012373	Abnormal eye physiology	54903	MKS1	ORPHA:110
HP:0012373	Abnormal eye physiology	54903	MKS1	ORPHA:475
HP:0012373	Abnormal eye physiology	54903	MKS1	OMIM:617121
HP:0012373	Abnormal eye physiology	95681	CEP41	ORPHA:220493
HP:0012373	Abnormal eye physiology	95681	CEP41	ORPHA:475
HP:0012373	Abnormal eye physiology	10686	CLDN16	OMIM:248250
HP:0012373	Abnormal eye physiology	10908	PNPLA6	OMIM:275400
HP:0012373	Abnormal eye physiology	10908	PNPLA6	ORPHA:2377
HP:0012373	Abnormal eye physiology	10908	PNPLA6	ORPHA:1173
HP:0012373	Abnormal eye physiology	10908	PNPLA6	OMIM:245800
HP:0012373	Abnormal eye physiology	55636	CHD7	ORPHA:138
HP:0012373	Abnormal eye physiology	55636	CHD7	ORPHA:478
HP:0012373	Abnormal eye physiology	9723	SEMA3E	ORPHA:138
HP:0012373	Abnormal eye physiology	79868	ALG13	ORPHA:324422
HP:0012373	Abnormal eye physiology	2697	GJA1	ORPHA:2710
HP:0012373	Abnormal eye physiology	1420	CRYGC	OMIM:604307
HP:0012373	Abnormal eye physiology	1420	CRYGC	ORPHA:1377
HP:0012373	Abnormal eye physiology	857	CAV1	OMIM:606721
HP:0012373	Abnormal eye physiology	26258	BLOC1S6	OMIM:614171
HP:0012373	Abnormal eye physiology	57231	SNX14	OMIM:616354
HP:0012373	Abnormal eye physiology	57231	SNX14	ORPHA:397709
HP:0012373	Abnormal eye physiology	8550	MAPKAPK5	OMIM:619869
HP:0012373	Abnormal eye physiology	3340	NDST1	OMIM:616116
HP:0012373	Abnormal eye physiology	89910	UBE3B	ORPHA:2707
HP:0012373	Abnormal eye physiology	89910	UBE3B	OMIM:244450
HP:0012373	Abnormal eye physiology	788	SLC25A20	ORPHA:159
HP:0012373	Abnormal eye physiology	5373	PMM2	OMIM:212065
HP:0012373	Abnormal eye physiology	92482	BBIP1	ORPHA:110
HP:0012373	Abnormal eye physiology	11020	IFT27	ORPHA:110
HP:0012373	Abnormal eye physiology	51057	WDPCP	ORPHA:110
HP:0012373	Abnormal eye physiology	27241	BBS9	ORPHA:110
HP:0012373	Abnormal eye physiology	84984	CEP19	ORPHA:110
HP:0012373	Abnormal eye physiology	22954	TRIM32	ORPHA:110
HP:0012373	Abnormal eye physiology	79738	BBS10	ORPHA:110
HP:0012373	Abnormal eye physiology	585	BBS4	ORPHA:110
HP:0012373	Abnormal eye physiology	8195	MKKS	ORPHA:110
HP:0012373	Abnormal eye physiology	54585	LZTFL1	ORPHA:110
HP:0012373	Abnormal eye physiology	55212	BBS7	ORPHA:110
HP:0012373	Abnormal eye physiology	166379	BBS12	ORPHA:110
HP:0012373	Abnormal eye physiology	80173	IFT74	ORPHA:110
HP:0012373	Abnormal eye physiology	3982	LIM2	OMIM:615277
HP:0012373	Abnormal eye physiology	5604	MAP2K1	OMIM:615279
HP:0012373	Abnormal eye physiology	5604	MAP2K1	ORPHA:1340
HP:0012373	Abnormal eye physiology	5590	PRKCZ	ORPHA:1606
HP:0012373	Abnormal eye physiology	2563	GABRD	ORPHA:1606
HP:0012373	Abnormal eye physiology	23013	SPEN	ORPHA:1606
HP:0012373	Abnormal eye physiology	8510	MMP23B	ORPHA:1606
HP:0012373	Abnormal eye physiology	7798	LUZP1	ORPHA:1606
HP:0012373	Abnormal eye physiology	6497	SKI	ORPHA:1606
HP:0012373	Abnormal eye physiology	10630	PDPN	ORPHA:1606
HP:0012373	Abnormal eye physiology	3339	HSPG2	ORPHA:1606
HP:0012373	Abnormal eye physiology	10277	UBE4B	ORPHA:1606
HP:0012373	Abnormal eye physiology	8514	KCNAB2	ORPHA:1606
HP:0012373	Abnormal eye physiology	63976	PRDM16	ORPHA:1606
HP:0012373	Abnormal eye physiology	54897	CASZ1	ORPHA:1606
HP:0012373	Abnormal eye physiology	472	ATM	ORPHA:100
HP:0012373	Abnormal eye physiology	472	ATM	OMIM:208900
HP:0012373	Abnormal eye physiology	55210	ATAD3A	ORPHA:496790
HP:0012373	Abnormal eye physiology	55210	ATAD3A	OMIM:617183
HP:0012373	Abnormal eye physiology	5605	MAP2K2	OMIM:615280
HP:0012373	Abnormal eye physiology	5605	MAP2K2	ORPHA:1340
HP:0012373	Abnormal eye physiology	4644	MYO5A	ORPHA:33445
HP:0012373	Abnormal eye physiology	4644	MYO5A	ORPHA:79476
HP:0012373	Abnormal eye physiology	54828	BCAS3	OMIM:619641
HP:0012373	Abnormal eye physiology	1615	DARS1	OMIM:615281
HP:0012373	Abnormal eye physiology	122961	ISCA2	OMIM:616370
HP:0012373	Abnormal eye physiology	2232	FDXR	ORPHA:543470
HP:0012373	Abnormal eye physiology	2232	FDXR	OMIM:617717
HP:0012373	Abnormal eye physiology	200424	TET3	OMIM:618798
HP:0012373	Abnormal eye physiology	57192	MCOLN1	ORPHA:578
HP:0012373	Abnormal eye physiology	84168	ANTXR1	OMIM:230740
HP:0012373	Abnormal eye physiology	84168	ANTXR1	ORPHA:2067
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:79443
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:79444
HP:0012373	Abnormal eye physiology	2778	GNAS	OMIM:103580
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:94089
HP:0012373	Abnormal eye physiology	2778	GNAS	OMIM:612463
HP:0012373	Abnormal eye physiology	2778	GNAS	OMIM:612462
HP:0012373	Abnormal eye physiology	84295	PHF6	ORPHA:127
HP:0012373	Abnormal eye physiology	84295	PHF6	OMIM:301900
HP:0012373	Abnormal eye physiology	5654	HTRA1	OMIM:600142
HP:0012373	Abnormal eye physiology	85300	ATCAY	OMIM:601238
HP:0012373	Abnormal eye physiology	85300	ATCAY	ORPHA:94122
HP:0012373	Abnormal eye physiology	60529	ALX4	ORPHA:228390
HP:0012373	Abnormal eye physiology	60529	ALX4	ORPHA:52022
HP:0012373	Abnormal eye physiology	120	ADD3	OMIM:617008
HP:0012373	Abnormal eye physiology	2583	B4GALNT1	OMIM:609195
HP:0012373	Abnormal eye physiology	5813	PURA	OMIM:616158
HP:0012373	Abnormal eye physiology	1642	DDB1	OMIM:619426
HP:0012373	Abnormal eye physiology	7306	TYRP1	ORPHA:79433
HP:0012373	Abnormal eye physiology	7306	TYRP1	OMIM:203290
HP:0012373	Abnormal eye physiology	1203	CLN5	ORPHA:228360
HP:0012373	Abnormal eye physiology	1203	CLN5	OMIM:256731
HP:0012373	Abnormal eye physiology	8473	OGT	OMIM:300997
HP:0012373	Abnormal eye physiology	4311	MME	OMIM:617018
HP:0012373	Abnormal eye physiology	8573	CASK	OMIM:300749
HP:0012373	Abnormal eye physiology	8573	CASK	ORPHA:163937
HP:0012373	Abnormal eye physiology	1798	DPAGT1	OMIM:608093
HP:0012373	Abnormal eye physiology	1798	DPAGT1	ORPHA:86309
HP:0012373	Abnormal eye physiology	8492	PRSS12	OMIM:249500
HP:0012373	Abnormal eye physiology	427	ASAH1	ORPHA:333
HP:0012373	Abnormal eye physiology	3858	KRT10	OMIM:609165
HP:0012373	Abnormal eye physiology	54880	BCOR	ORPHA:568
HP:0012373	Abnormal eye physiology	1301	COL11A1	ORPHA:560
HP:0012373	Abnormal eye physiology	9758	FRMPD4	OMIM:300983
HP:0012373	Abnormal eye physiology	64374	SIL1	ORPHA:559
HP:0012373	Abnormal eye physiology	64374	SIL1	OMIM:248800
HP:0012373	Abnormal eye physiology	51763	INPP5K	ORPHA:559
HP:0012373	Abnormal eye physiology	4548	MTR	OMIM:250940
HP:0012373	Abnormal eye physiology	3028	HSD17B10	ORPHA:391428
HP:0012373	Abnormal eye physiology	3028	HSD17B10	OMIM:300438
HP:0012373	Abnormal eye physiology	50801	KCNK4	OMIM:618381
HP:0012373	Abnormal eye physiology	8943	AP3D1	OMIM:617050
HP:0012373	Abnormal eye physiology	8943	AP3D1	ORPHA:54
HP:0012373	Abnormal eye physiology	8943	AP3D1	ORPHA:1000
HP:0012373	Abnormal eye physiology	29957	SLC25A24	ORPHA:2095
HP:0012373	Abnormal eye physiology	65250	CPLANE1	OMIM:277170
HP:0012373	Abnormal eye physiology	65250	CPLANE1	ORPHA:2754
HP:0012373	Abnormal eye physiology	65250	CPLANE1	ORPHA:475
HP:0012373	Abnormal eye physiology	57187	THOC2	OMIM:300957
HP:0012373	Abnormal eye physiology	57187	THOC2	ORPHA:457240
HP:0012373	Abnormal eye physiology	10526	IPO8	OMIM:619472
HP:0012373	Abnormal eye physiology	6872	TAF1	OMIM:300966
HP:0012373	Abnormal eye physiology	374879	ZNF699	OMIM:619488
HP:0012373	Abnormal eye physiology	9373	PLAA	ORPHA:521426
HP:0012373	Abnormal eye physiology	9373	PLAA	OMIM:617527
HP:0012373	Abnormal eye physiology	55717	WDR11	OMIM:620237
HP:0012373	Abnormal eye physiology	55717	WDR11	ORPHA:478
HP:0012373	Abnormal eye physiology	9573	GDF3	OMIM:613703
HP:0012373	Abnormal eye physiology	10681	GNB5	ORPHA:542306
HP:0012373	Abnormal eye physiology	10681	GNB5	OMIM:617173
HP:0012373	Abnormal eye physiology	10681	GNB5	OMIM:617182
HP:0012373	Abnormal eye physiology	7284	TUFM	OMIM:610678
HP:0012373	Abnormal eye physiology	6663	SOX10	OMIM:609136
HP:0012373	Abnormal eye physiology	6663	SOX10	ORPHA:163746
HP:0012373	Abnormal eye physiology	6663	SOX10	ORPHA:478
HP:0012373	Abnormal eye physiology	6663	SOX10	OMIM:611584
HP:0012373	Abnormal eye physiology	5264	PHYH	ORPHA:773
HP:0012373	Abnormal eye physiology	5264	PHYH	OMIM:266500
HP:0012373	Abnormal eye physiology	10479	SLC9A6	ORPHA:85278
HP:0012373	Abnormal eye physiology	63899	NSUN3	OMIM:619012
HP:0012373	Abnormal eye physiology	54187	NANS	OMIM:610442
HP:0012373	Abnormal eye physiology	1968	EIF2S3	ORPHA:85282
HP:0012373	Abnormal eye physiology	81615	TMEM163	OMIM:620243
HP:0012373	Abnormal eye physiology	54936	ADPRS	OMIM:618170
HP:0012373	Abnormal eye physiology	114034	TOE1	ORPHA:284339
HP:0012373	Abnormal eye physiology	114034	TOE1	OMIM:614969
HP:0012373	Abnormal eye physiology	9562	MINPP1	ORPHA:284339
HP:0012373	Abnormal eye physiology	9562	MINPP1	OMIM:619527
HP:0012373	Abnormal eye physiology	84842	HPDL	OMIM:619026
HP:0012373	Abnormal eye physiology	284361	EMC10	OMIM:619264
HP:0012373	Abnormal eye physiology	128674	PROKR2	ORPHA:3157
HP:0012373	Abnormal eye physiology	128674	PROKR2	ORPHA:478
HP:0012373	Abnormal eye physiology	6657	SOX2	ORPHA:3157
HP:0012373	Abnormal eye physiology	9915	ARNT2	ORPHA:3157
HP:0012373	Abnormal eye physiology	8820	HESX1	ORPHA:3157
HP:0012373	Abnormal eye physiology	8820	HESX1	ORPHA:478
HP:0012373	Abnormal eye physiology	5015	OTX2	ORPHA:3157
HP:0012373	Abnormal eye physiology	6095	RORA	OMIM:618060
HP:0012373	Abnormal eye physiology	23241	PACS2	OMIM:618067
HP:0012373	Abnormal eye physiology	10312	TCIRG1	OMIM:259700
HP:0012373	Abnormal eye physiology	10312	TCIRG1	ORPHA:667
HP:0012373	Abnormal eye physiology	10312	TCIRG1	ORPHA:1782
HP:0012373	Abnormal eye physiology	79581	SLC52A2	OMIM:614707
HP:0012373	Abnormal eye physiology	64324	NSD1	ORPHA:821
HP:0012373	Abnormal eye physiology	64324	NSD1	OMIM:117550
HP:0012373	Abnormal eye physiology	29072	SETD2	ORPHA:821
HP:0012373	Abnormal eye physiology	10297	APC2	ORPHA:821
HP:0012373	Abnormal eye physiology	54476	RNF216	OMIM:212840
HP:0012373	Abnormal eye physiology	54476	RNF216	ORPHA:1173
HP:0012373	Abnormal eye physiology	1717	DHCR7	ORPHA:818
HP:0012373	Abnormal eye physiology	1717	DHCR7	OMIM:270400
HP:0012373	Abnormal eye physiology	4758	NEU1	ORPHA:812
HP:0012373	Abnormal eye physiology	4758	NEU1	ORPHA:93400
HP:0012373	Abnormal eye physiology	4758	NEU1	OMIM:256550
HP:0012373	Abnormal eye physiology	4758	NEU1	ORPHA:93399
HP:0012373	Abnormal eye physiology	55780	ERMARD	ORPHA:75857
HP:0012373	Abnormal eye physiology	4884	NPTX1	OMIM:620158
HP:0012373	Abnormal eye physiology	4038	LRP4	ORPHA:3258
HP:0012373	Abnormal eye physiology	25839	COG4	ORPHA:263501
HP:0012373	Abnormal eye physiology	25839	COG4	OMIM:613489
HP:0012373	Abnormal eye physiology	64207	IRF2BPL	OMIM:618088
HP:0012373	Abnormal eye physiology	8792	TNFRSF11A	OMIM:612301
HP:0012373	Abnormal eye physiology	8792	TNFRSF11A	ORPHA:1782
HP:0012373	Abnormal eye physiology	9570	GOSR2	OMIM:620166
HP:0012373	Abnormal eye physiology	672	BRCA1	ORPHA:84
HP:0012373	Abnormal eye physiology	10459	MAD2L2	ORPHA:84
HP:0012373	Abnormal eye physiology	7516	XRCC2	ORPHA:84
HP:0012373	Abnormal eye physiology	29089	UBE2T	ORPHA:84
HP:0012373	Abnormal eye physiology	675	BRCA2	ORPHA:84
HP:0012373	Abnormal eye physiology	55120	FANCL	ORPHA:84
HP:0012373	Abnormal eye physiology	2177	FANCD2	ORPHA:84
HP:0012373	Abnormal eye physiology	2175	FANCA	ORPHA:84
HP:0012373	Abnormal eye physiology	2187	FANCB	ORPHA:84
HP:0012373	Abnormal eye physiology	2176	FANCC	ORPHA:84
HP:0012373	Abnormal eye physiology	2178	FANCE	ORPHA:84
HP:0012373	Abnormal eye physiology	2188	FANCF	ORPHA:84
HP:0012373	Abnormal eye physiology	2189	FANCG	ORPHA:84
HP:0012373	Abnormal eye physiology	5888	RAD51	ORPHA:84
HP:0012373	Abnormal eye physiology	5889	RAD51C	ORPHA:84
HP:0012373	Abnormal eye physiology	55159	RFWD3	ORPHA:84
HP:0012373	Abnormal eye physiology	83990	BRIP1	ORPHA:84
HP:0012373	Abnormal eye physiology	57697	FANCM	ORPHA:84
HP:0012373	Abnormal eye physiology	79728	PALB2	ORPHA:84
HP:0012373	Abnormal eye physiology	84464	SLX4	ORPHA:84
HP:0012373	Abnormal eye physiology	55215	FANCI	ORPHA:84
HP:0012373	Abnormal eye physiology	823	CAPN1	OMIM:616907
HP:0012373	Abnormal eye physiology	222663	SCUBE3	OMIM:619184
HP:0012373	Abnormal eye physiology	7274	TTPA	ORPHA:96
HP:0012373	Abnormal eye physiology	23036	ZNF292	OMIM:619188
HP:0012373	Abnormal eye physiology	4598	MVK	OMIM:610377
HP:0012373	Abnormal eye physiology	25942	SIN3A	OMIM:613406
HP:0012373	Abnormal eye physiology	25942	SIN3A	ORPHA:94065
HP:0012373	Abnormal eye physiology	53834	FGFRL1	OMIM:194190
HP:0012373	Abnormal eye physiology	1487	CTBP1	OMIM:194190
HP:0012373	Abnormal eye physiology	1487	CTBP1	ORPHA:280
HP:0012373	Abnormal eye physiology	3954	LETM1	OMIM:194190
HP:0012373	Abnormal eye physiology	3954	LETM1	ORPHA:280
HP:0012373	Abnormal eye physiology	3954	LETM1	OMIM:620089
HP:0012373	Abnormal eye physiology	7468	NSD2	OMIM:194190
HP:0012373	Abnormal eye physiology	7468	NSD2	ORPHA:280
HP:0012373	Abnormal eye physiology	10815	CPLX1	OMIM:194190
HP:0012373	Abnormal eye physiology	10815	CPLX1	ORPHA:280
HP:0012373	Abnormal eye physiology	3475	IFRD1	ORPHA:98771
HP:0012373	Abnormal eye physiology	90624	LYRM7	OMIM:615838
HP:0012373	Abnormal eye physiology	493856	CISD2	ORPHA:3463
HP:0012373	Abnormal eye physiology	80704	SLC19A3	OMIM:607483
HP:0012373	Abnormal eye physiology	80704	SLC19A3	ORPHA:255241
HP:0012373	Abnormal eye physiology	4784	NFIX	OMIM:614753
HP:0012373	Abnormal eye physiology	4784	NFIX	ORPHA:420179
HP:0012373	Abnormal eye physiology	1910	EDNRB	OMIM:277580
HP:0012373	Abnormal eye physiology	340024	SLC6A19	ORPHA:2116
HP:0012373	Abnormal eye physiology	57393	CLTRN	ORPHA:2116
HP:0012373	Abnormal eye physiology	55149	MTPAP	OMIM:613672
HP:0012373	Abnormal eye physiology	55149	MTPAP	ORPHA:254343
HP:0012373	Abnormal eye physiology	64116	SLC39A8	ORPHA:468699
HP:0012373	Abnormal eye physiology	64116	SLC39A8	OMIM:616721
HP:0012373	Abnormal eye physiology	200403	VWA3B	OMIM:616948
HP:0012373	Abnormal eye physiology	701	BUB1B	OMIM:257300
HP:0012373	Abnormal eye physiology	6567	SLC16A2	ORPHA:59
HP:0012373	Abnormal eye physiology	9990	SLC12A6	ORPHA:1496
HP:0012373	Abnormal eye physiology	57165	GJC2	OMIM:613206
HP:0012373	Abnormal eye physiology	57165	GJC2	OMIM:608804
HP:0012373	Abnormal eye physiology	57724	EPG5	ORPHA:1493
HP:0012373	Abnormal eye physiology	57724	EPG5	OMIM:242840
HP:0012373	Abnormal eye physiology	9230	RAB11B	OMIM:617807
HP:0012373	Abnormal eye physiology	54704	PDP1	OMIM:608782
HP:0012373	Abnormal eye physiology	8600	TNFSF11	OMIM:259710
HP:0012373	Abnormal eye physiology	8600	TNFSF11	ORPHA:667
HP:0012373	Abnormal eye physiology	10075	HUWE1	OMIM:309590
HP:0012373	Abnormal eye physiology	8733	GPAA1	OMIM:617810
HP:0012373	Abnormal eye physiology	8733	GPAA1	ORPHA:529665
HP:0012373	Abnormal eye physiology	10586	MAB21L2	OMIM:615877
HP:0012373	Abnormal eye physiology	55593	OTUD5	OMIM:301056
HP:0012373	Abnormal eye physiology	9150	CTDP1	OMIM:604168
HP:0012373	Abnormal eye physiology	9150	CTDP1	ORPHA:48431
HP:0012373	Abnormal eye physiology	1806	DPYD	OMIM:274270
HP:0012373	Abnormal eye physiology	1806	DPYD	ORPHA:1675
HP:0012373	Abnormal eye physiology	57505	AARS2	OMIM:615889
HP:0012373	Abnormal eye physiology	79644	SRD5A3	OMIM:612379
HP:0012373	Abnormal eye physiology	79644	SRD5A3	ORPHA:324737
HP:0012373	Abnormal eye physiology	10413	YAP1	ORPHA:1473
HP:0012373	Abnormal eye physiology	3778	KCNMA1	ORPHA:79137
HP:0012373	Abnormal eye physiology	3778	KCNMA1	OMIM:618729
HP:0012373	Abnormal eye physiology	23732	FRRS1L	OMIM:616981
HP:0012373	Abnormal eye physiology	9401	RECQL4	ORPHA:1225
HP:0012373	Abnormal eye physiology	10560	SLC19A2	OMIM:249270
HP:0012373	Abnormal eye physiology	6326	SCN2A	OMIM:618924
HP:0012373	Abnormal eye physiology	4915	NTRK2	OMIM:617830
HP:0012373	Abnormal eye physiology	4915	NTRK2	ORPHA:442835
HP:0012373	Abnormal eye physiology	4358	MPV17	OMIM:256810
HP:0012373	Abnormal eye physiology	3796	KIF2A	OMIM:615411
HP:0012373	Abnormal eye physiology	91137	SLC25A46	OMIM:616505
HP:0012373	Abnormal eye physiology	91137	SLC25A46	ORPHA:2254
HP:0012373	Abnormal eye physiology	259232	NALCN	OMIM:615419
HP:0012373	Abnormal eye physiology	259232	NALCN	ORPHA:371364
HP:0012373	Abnormal eye physiology	51524	TMEM138	ORPHA:2318
HP:0012373	Abnormal eye physiology	23090	ZNF423	ORPHA:2318
HP:0012373	Abnormal eye physiology	55764	IFT122	OMIM:218330
HP:0012373	Abnormal eye physiology	55764	IFT122	ORPHA:1515
HP:0012373	Abnormal eye physiology	149461	CLDN19	OMIM:248190
HP:0012373	Abnormal eye physiology	149461	CLDN19	ORPHA:2196
HP:0012373	Abnormal eye physiology	9750	RIPOR2	OMIM:616515
HP:0012373	Abnormal eye physiology	9361	LONP1	ORPHA:1458
HP:0012373	Abnormal eye physiology	8270	LAGE3	OMIM:301006
HP:0012373	Abnormal eye physiology	64857	PLEKHG2	OMIM:616763
HP:0012373	Abnormal eye physiology	26503	SLC17A5	OMIM:604369
HP:0012373	Abnormal eye physiology	26503	SLC17A5	OMIM:269920
HP:0012373	Abnormal eye physiology	2893	GRIA4	OMIM:617864
HP:0012373	Abnormal eye physiology	60482	SLC5A7	ORPHA:98914
HP:0012373	Abnormal eye physiology	4649	MYO9A	ORPHA:98914
HP:0012373	Abnormal eye physiology	4649	MYO9A	OMIM:618198
HP:0012373	Abnormal eye physiology	1305	COL13A1	ORPHA:98914
HP:0012373	Abnormal eye physiology	1103	CHAT	ORPHA:98914
HP:0012373	Abnormal eye physiology	375790	AGRN	ORPHA:98914
HP:0012373	Abnormal eye physiology	6572	SLC18A3	ORPHA:98914
HP:0012373	Abnormal eye physiology	6616	SNAP25	ORPHA:98914
HP:0012373	Abnormal eye physiology	84628	NTNG2	OMIM:618718
HP:0012373	Abnormal eye physiology	55967	NDUFA12	ORPHA:255241
HP:0012373	Abnormal eye physiology	51204	TACO1	ORPHA:255241
HP:0012373	Abnormal eye physiology	137682	NDUFAF6	ORPHA:255241
HP:0012373	Abnormal eye physiology	5160	PDHA1	ORPHA:255241
HP:0012373	Abnormal eye physiology	1355	COX15	ORPHA:255241
HP:0012373	Abnormal eye physiology	1892	ECHS1	ORPHA:255241
HP:0012373	Abnormal eye physiology	1892	ECHS1	OMIM:616277
HP:0012373	Abnormal eye physiology	51079	NDUFA13	ORPHA:255241
HP:0012373	Abnormal eye physiology	4705	NDUFA10	ORPHA:255241
HP:0012373	Abnormal eye physiology	51601	LIPT1	ORPHA:255241
HP:0012373	Abnormal eye physiology	4695	NDUFA2	ORPHA:255241
HP:0012373	Abnormal eye physiology	4697	NDUFA4	ORPHA:255241
HP:0012373	Abnormal eye physiology	4704	NDUFA9	ORPHA:255241
HP:0012373	Abnormal eye physiology	652	BMP4	ORPHA:139471
HP:0012373	Abnormal eye physiology	652	BMP4	OMIM:607932
HP:0012373	Abnormal eye physiology	23247	KATNIP	OMIM:616784
HP:0012373	Abnormal eye physiology	23247	KATNIP	ORPHA:475
HP:0012373	Abnormal eye physiology	85378	TUBGCP6	ORPHA:2518
HP:0012373	Abnormal eye physiology	85378	TUBGCP6	OMIM:251270
HP:0012373	Abnormal eye physiology	10733	PLK4	ORPHA:2518
HP:0012373	Abnormal eye physiology	8139	GAN	OMIM:256850
HP:0012373	Abnormal eye physiology	9851	KIAA0753	ORPHA:2754
HP:0012373	Abnormal eye physiology	26123	TCTN3	ORPHA:2754
HP:0012373	Abnormal eye physiology	5147	PDE6D	ORPHA:2754
HP:0012373	Abnormal eye physiology	317662	FAM149B1	ORPHA:2754
HP:0012373	Abnormal eye physiology	374654	KIF7	ORPHA:2754
HP:0012373	Abnormal eye physiology	374654	KIF7	OMIM:200990
HP:0012373	Abnormal eye physiology	29925	GMPPB	ORPHA:363623
HP:0012373	Abnormal eye physiology	29925	GMPPB	OMIM:615351
HP:0012373	Abnormal eye physiology	29925	GMPPB	OMIM:615352
HP:0012373	Abnormal eye physiology	8884	SLC5A6	OMIM:618973
HP:0012373	Abnormal eye physiology	57647	DHX37	OMIM:618731
HP:0012373	Abnormal eye physiology	4747	NEFL	OMIM:617882
HP:0012373	Abnormal eye physiology	498	ATP5F1A	OMIM:615228
HP:0012373	Abnormal eye physiology	2137	EXTL3	ORPHA:508533
HP:0012373	Abnormal eye physiology	5274	SERPINI1	OMIM:604218
HP:0012373	Abnormal eye physiology	1409	CRYAA	OMIM:604219
HP:0012373	Abnormal eye physiology	1409	CRYAA	ORPHA:1377
HP:0012373	Abnormal eye physiology	23646	PLD3	OMIM:617770
HP:0012373	Abnormal eye physiology	6873	TAF2	OMIM:615599
HP:0012373	Abnormal eye physiology	5361	PLXNA1	OMIM:619955
HP:0012373	Abnormal eye physiology	84942	WDR73	OMIM:251300
HP:0012373	Abnormal eye physiology	10060	ABCC9	OMIM:619719
HP:0012373	Abnormal eye physiology	2067	ERCC1	ORPHA:90322
HP:0012373	Abnormal eye physiology	2067	ERCC1	OMIM:610758
HP:0012373	Abnormal eye physiology	65082	VPS33A	OMIM:617303
HP:0012373	Abnormal eye physiology	65082	VPS33A	ORPHA:505248
HP:0012373	Abnormal eye physiology	57156	TMEM63C	OMIM:619966
HP:0012373	Abnormal eye physiology	51098	IFT52	ORPHA:1515
HP:0012373	Abnormal eye physiology	51098	IFT52	OMIM:617102
HP:0012373	Abnormal eye physiology	10559	SLC35A1	OMIM:603585
HP:0012373	Abnormal eye physiology	146057	TTBK2	OMIM:604432
HP:0012373	Abnormal eye physiology	9289	ADGRG1	OMIM:606854
HP:0012373	Abnormal eye physiology	9289	ADGRG1	ORPHA:98889
HP:0012373	Abnormal eye physiology	816	CAMK2B	OMIM:617799
HP:0012373	Abnormal eye physiology	8560	DEGS1	OMIM:618404
HP:0012373	Abnormal eye physiology	83480	PUS3	ORPHA:488627
HP:0012373	Abnormal eye physiology	5832	ALDH18A1	OMIM:601162
HP:0012373	Abnormal eye physiology	7020	TFAP2A	OMIM:113620
HP:0012373	Abnormal eye physiology	343641	TGM6	ORPHA:276193
HP:0012373	Abnormal eye physiology	10715	CERS1	OMIM:616230
HP:0012373	Abnormal eye physiology	54872	PIGG	ORPHA:280
HP:0012373	Abnormal eye physiology	7469	NELFA	ORPHA:280
HP:0012373	Abnormal eye physiology	283987	HID1	OMIM:619983
HP:0012373	Abnormal eye physiology	9731	CEP104	OMIM:619988
HP:0012373	Abnormal eye physiology	9731	CEP104	ORPHA:475
HP:0012373	Abnormal eye physiology	3737	KCNA2	ORPHA:442835
HP:0012373	Abnormal eye physiology	1759	DNM1	ORPHA:442835
HP:0012373	Abnormal eye physiology	1759	DNM1	OMIM:620352
HP:0012373	Abnormal eye physiology	8120	AP3B2	ORPHA:442835
HP:0012373	Abnormal eye physiology	10991	SLC38A3	ORPHA:442835
HP:0012373	Abnormal eye physiology	51343	FZR1	ORPHA:442835
HP:0012373	Abnormal eye physiology	22906	TRAK1	ORPHA:442835
HP:0012373	Abnormal eye physiology	1917	EEF1A2	ORPHA:442835
HP:0012373	Abnormal eye physiology	8831	SYNGAP1	ORPHA:442835
HP:0012373	Abnormal eye physiology	7532	YWHAG	ORPHA:442835
HP:0012373	Abnormal eye physiology	79876	UBA5	ORPHA:442835
HP:0012373	Abnormal eye physiology	2558	GABRA5	ORPHA:442835
HP:0012373	Abnormal eye physiology	10659	CELF2	ORPHA:442835
HP:0012373	Abnormal eye physiology	10659	CELF2	OMIM:619561
HP:0012373	Abnormal eye physiology	1213	CLTC	ORPHA:442835
HP:0012373	Abnormal eye physiology	23334	SZT2	ORPHA:442835
HP:0012373	Abnormal eye physiology	51412	ACTL6B	ORPHA:442835
HP:0012373	Abnormal eye physiology	348980	HCN1	ORPHA:442835
HP:0012373	Abnormal eye physiology	6506	SLC1A2	ORPHA:442835
HP:0012373	Abnormal eye physiology	8867	SYNJ1	ORPHA:442835
HP:0012373	Abnormal eye physiology	2258	FGF13	ORPHA:442835
HP:0012373	Abnormal eye physiology	3745	KCNB1	ORPHA:442835
HP:0012373	Abnormal eye physiology	284111	SLC13A5	ORPHA:442835
HP:0012373	Abnormal eye physiology	25977	NECAP1	ORPHA:442835
HP:0012373	Abnormal eye physiology	22866	CNKSR2	ORPHA:442835
HP:0012373	Abnormal eye physiology	55152	DALRD3	ORPHA:442835
HP:0012373	Abnormal eye physiology	26999	CYFIP2	ORPHA:442835
HP:0012373	Abnormal eye physiology	23097	CDK19	ORPHA:442835
HP:0012373	Abnormal eye physiology	64801	ARV1	ORPHA:442835
HP:0012373	Abnormal eye physiology	3476	IGBP1	ORPHA:52055
HP:0012373	Abnormal eye physiology	3476	IGBP1	OMIM:300472
HP:0012373	Abnormal eye physiology	79600	TCTN1	ORPHA:475
HP:0012373	Abnormal eye physiology	200894	ARL13B	ORPHA:475
HP:0012373	Abnormal eye physiology	219844	HYLS1	ORPHA:475
HP:0012373	Abnormal eye physiology	219854	TMEM218	ORPHA:475
HP:0012373	Abnormal eye physiology	79867	TCTN2	ORPHA:475
HP:0012373	Abnormal eye physiology	79867	TCTN2	OMIM:616654
HP:0012373	Abnormal eye physiology	80776	B9D2	ORPHA:475
HP:0012373	Abnormal eye physiology	10464	PIBF1	ORPHA:475
HP:0012373	Abnormal eye physiology	25776	CBY1	ORPHA:475
HP:0012373	Abnormal eye physiology	27077	B9D1	ORPHA:475
HP:0012373	Abnormal eye physiology	3981	LIG4	ORPHA:235
HP:0012373	Abnormal eye physiology	54888	NSUN2	ORPHA:235
HP:0012373	Abnormal eye physiology	1947	EFNB1	OMIM:304110
HP:0012373	Abnormal eye physiology	54914	FOCAD	OMIM:619991
HP:0012373	Abnormal eye physiology	54902	TTC19	OMIM:615157
HP:0012373	Abnormal eye physiology	286	ANK1	ORPHA:251066
HP:0012373	Abnormal eye physiology	7337	UBE3A	OMIM:105830
HP:0012373	Abnormal eye physiology	56052	ALG1	ORPHA:79327
HP:0012373	Abnormal eye physiology	4669	NAGLU	OMIM:616491
HP:0012373	Abnormal eye physiology	4849	CNOT3	OMIM:618672
HP:0012373	Abnormal eye physiology	59336	PRDM13	OMIM:619761
HP:0012373	Abnormal eye physiology	59336	PRDM13	OMIM:619909
HP:0012373	Abnormal eye physiology	22	ABCB7	ORPHA:2802
HP:0012373	Abnormal eye physiology	1356	CP	ORPHA:48818
HP:0012373	Abnormal eye physiology	9338	TCEAL1	OMIM:301094
HP:0012373	Abnormal eye physiology	2556	GABRA3	OMIM:301091
HP:0012373	Abnormal eye physiology	9319	TRIP13	OMIM:617598
HP:0012373	Abnormal eye physiology	85365	ALG2	OMIM:607906
HP:0012373	Abnormal eye physiology	57479	PRR12	OMIM:619539
HP:0012373	Abnormal eye physiology	6683	SPAST	OMIM:182601
HP:0012373	Abnormal eye physiology	23189	KANK1	OMIM:612900
HP:0012373	Abnormal eye physiology	79053	ALG8	ORPHA:79325
HP:0012373	Abnormal eye physiology	81570	CLPB	OMIM:616271
HP:0012373	Abnormal eye physiology	81570	CLPB	ORPHA:445038
HP:0012373	Abnormal eye physiology	5587	PRKD1	OMIM:617364
HP:0012373	Abnormal eye physiology	10371	SEMA3A	ORPHA:478
HP:0012373	Abnormal eye physiology	81848	SPRY4	ORPHA:478
HP:0012373	Abnormal eye physiology	23767	FLRT3	ORPHA:478
HP:0012373	Abnormal eye physiology	79625	NDNF	ORPHA:478
HP:0012373	Abnormal eye physiology	389549	FEZF1	ORPHA:478
HP:0012373	Abnormal eye physiology	3730	ANOS1	ORPHA:478
HP:0012373	Abnormal eye physiology	54756	IL17RD	ORPHA:478
HP:0012373	Abnormal eye physiology	285025	CCDC141	ORPHA:478
HP:0012373	Abnormal eye physiology	60675	PROK2	ORPHA:478
HP:0012373	Abnormal eye physiology	1848	DUSP6	ORPHA:478
HP:0012373	Abnormal eye physiology	6870	TACR3	ORPHA:478
HP:0012373	Abnormal eye physiology	9394	HS6ST1	ORPHA:478
HP:0012373	Abnormal eye physiology	8822	FGF17	ORPHA:478
HP:0012373	Abnormal eye physiology	23111	SPART	OMIM:275900
HP:0012373	Abnormal eye physiology	5087	PBX1	ORPHA:97362
HP:0012373	Abnormal eye physiology	54892	NCAPG2	OMIM:618460
HP:0012373	Abnormal eye physiology	51728	POLR3K	OMIM:619310
HP:0012373	Abnormal eye physiology	85476	GFM1	OMIM:609060
HP:0012373	Abnormal eye physiology	8675	STX16	ORPHA:94089
HP:0012373	Abnormal eye physiology	29887	SNX10	ORPHA:667
HP:0012373	Abnormal eye physiology	6548	SLC9A1	OMIM:616291
HP:0012373	Abnormal eye physiology	26275	HIBCH	ORPHA:88639
HP:0012373	Abnormal eye physiology	26275	HIBCH	OMIM:250620
HP:0012373	Abnormal eye physiology	56521	DNAJC12	OMIM:617384
HP:0012373	Abnormal eye physiology	1436	CSF1R	OMIM:618476
HP:0012373	Abnormal eye physiology	1062	CENPE	OMIM:616051
HP:0012373	Abnormal eye physiology	8878	SQSTM1	OMIM:617145
HP:0012373	Abnormal eye physiology	2033	EP300	ORPHA:353284
HP:0012373	Abnormal eye physiology	5010	CLDN11	OMIM:619328
HP:0012373	Abnormal eye physiology	79944	L2HGDH	OMIM:236792
HP:0012373	Abnormal eye physiology	57551	TAOK1	OMIM:619575
HP:0012373	Abnormal eye physiology	22845	DOLK	OMIM:610768
HP:0012373	Abnormal eye physiology	55750	AGK	OMIM:212350
HP:0012373	Abnormal eye physiology	55750	AGK	ORPHA:1369
HP:0012373	Abnormal eye physiology	6898	TAT	ORPHA:28378
HP:0012373	Abnormal eye physiology	112812	FDX2	OMIM:251900
HP:0012373	Abnormal eye physiology	8635	RNASET2	OMIM:612951
HP:0012373	Abnormal eye physiology	668	FOXL2	OMIM:110100
HP:0012373	Abnormal eye physiology	668	FOXL2	ORPHA:572333
HP:0012373	Abnormal eye physiology	145173	B3GLCT	OMIM:261540
HP:0012373	Abnormal eye physiology	145173	B3GLCT	ORPHA:709
HP:0012373	Abnormal eye physiology	2132	EXT2	ORPHA:52022
HP:0012373	Abnormal eye physiology	51317	PHF21A	ORPHA:52022
HP:0012373	Abnormal eye physiology	128240	NAXE	OMIM:617186
HP:0012373	Abnormal eye physiology	29123	ANKRD11	ORPHA:261250
HP:0012373	Abnormal eye physiology	57704	GBA2	ORPHA:320391
HP:0012373	Abnormal eye physiology	57704	GBA2	OMIM:614409
HP:0012373	Abnormal eye physiology	57704	GBA2	ORPHA:352641
HP:0012373	Abnormal eye physiology	627	BDNF	ORPHA:893
HP:0012373	Abnormal eye physiology	6904	TBCD	OMIM:617193
HP:0012373	Abnormal eye physiology	1387	CREBBP	ORPHA:353277
HP:0012373	Abnormal eye physiology	9487	PIGL	OMIM:280000
HP:0012373	Abnormal eye physiology	22800	RRAS2	ORPHA:648
HP:0012373	Abnormal eye physiology	867	CBL	ORPHA:648
HP:0012373	Abnormal eye physiology	8216	LZTR1	ORPHA:648
HP:0012373	Abnormal eye physiology	6016	RIT1	ORPHA:648
HP:0012373	Abnormal eye physiology	6237	RRAS	ORPHA:648
HP:0012373	Abnormal eye physiology	5894	RAF1	ORPHA:648
HP:0012373	Abnormal eye physiology	22808	MRAS	ORPHA:648
HP:0012373	Abnormal eye physiology	200734	SPRED2	ORPHA:648
HP:0012373	Abnormal eye physiology	6655	SOS2	ORPHA:648
HP:0012373	Abnormal eye physiology	5781	PTPN11	ORPHA:648
HP:0012373	Abnormal eye physiology	5922	RASA2	ORPHA:648
HP:0012373	Abnormal eye physiology	55074	OXR1	OMIM:213000
HP:0012373	Abnormal eye physiology	3735	KARS1	OMIM:619147
HP:0012373	Abnormal eye physiology	27072	VPS41	OMIM:619389
HP:0012373	Abnormal eye physiology	3897	L1CAM	ORPHA:2182
HP:0012373	Abnormal eye physiology	8665	EIF3F	OMIM:618295
HP:0012373	Abnormal eye physiology	60481	ELOVL5	ORPHA:423296
HP:0012373	Abnormal eye physiology	60481	ELOVL5	OMIM:615957
HP:0012373	Abnormal eye physiology	10128	LRPPRC	OMIM:220111
HP:0012373	Abnormal eye physiology	158	ADSL	OMIM:103050
HP:0012373	Abnormal eye physiology	9131	AIFM1	OMIM:300232
HP:0012373	Abnormal eye physiology	23769	FLRT1	ORPHA:320406
HP:0012373	Abnormal eye physiology	64837	KLC2	ORPHA:320406
HP:0012373	Abnormal eye physiology	64837	KLC2	OMIM:609541
HP:0012373	Abnormal eye physiology	8496	PPFIBP1	OMIM:620024
HP:0012373	Abnormal eye physiology	4983	OPHN1	OMIM:300486
HP:0012373	Abnormal eye physiology	51218	GLRX5	ORPHA:401866
HP:0012373	Abnormal eye physiology	51218	GLRX5	OMIM:616859
HP:0012373	Abnormal eye physiology	1352	COX10	OMIM:619046
HP:0012373	Abnormal eye physiology	23431	AP4E1	OMIM:613744
HP:0012373	Abnormal eye physiology	7102	TSPAN7	OMIM:300210
HP:0012373	Abnormal eye physiology	57492	ARID1B	OMIM:135900
HP:0012373	Abnormal eye physiology	55037	PTCD3	OMIM:619057
HP:0012373	Abnormal eye physiology	22897	CEP164	OMIM:614845
HP:0012373	Abnormal eye physiology	26090	ABHD12	OMIM:612674
HP:0012373	Abnormal eye physiology	1600	DAB1	OMIM:615945
HP:0012373	Abnormal eye physiology	4338	MOCS2	OMIM:252160
HP:0012373	Abnormal eye physiology	10382	TUBB4A	OMIM:612438
HP:0012373	Abnormal eye physiology	443	ASPA	OMIM:271900
HP:0012373	Abnormal eye physiology	1593	CYP27A1	ORPHA:909
HP:0012373	Abnormal eye physiology	9255	AIMP1	OMIM:260600
HP:0012373	Abnormal eye physiology	11340	EXOSC8	ORPHA:2254
HP:0012373	Abnormal eye physiology	51010	EXOSC3	ORPHA:2254
HP:0012373	Abnormal eye physiology	51010	EXOSC3	OMIM:614678
HP:0012373	Abnormal eye physiology	7443	VRK1	ORPHA:2254
HP:0012373	Abnormal eye physiology	285175	UNC80	OMIM:616801
HP:0012373	Abnormal eye physiology	285175	UNC80	ORPHA:371364
HP:0012373	Abnormal eye physiology	27286	SRPX2	ORPHA:98889
HP:0012373	Abnormal eye physiology	157570	ESCO2	ORPHA:3103
HP:0012373	Abnormal eye physiology	10236	HNRNPR	OMIM:620073
HP:0012373	Abnormal eye physiology	2521	FUS	ORPHA:300605
HP:0012373	Abnormal eye physiology	10280	SIGMAR1	ORPHA:300605
HP:0012373	Abnormal eye physiology	10558	SPTLC1	ORPHA:300605
HP:0012373	Abnormal eye physiology	284217	LAMA1	OMIM:615960
HP:0012373	Abnormal eye physiology	284217	LAMA1	ORPHA:370022
HP:0012373	Abnormal eye physiology	3187	HNRNPH1	OMIM:620083
HP:0012373	Abnormal eye physiology	85021	REPS1	OMIM:617916
HP:0012373	Abnormal eye physiology	4990	SIX6	OMIM:212550
HP:0012373	Abnormal eye physiology	92154	MTSS2	OMIM:620086
HP:0012373	Abnormal eye physiology	84978	FRMD5	OMIM:620094
HP:0012373	Abnormal eye physiology	51067	YARS2	OMIM:613561
HP:0012373	Abnormal eye physiology	80199	FUZ	ORPHA:1136
HP:0012373	Abnormal eye physiology	1413	CRYBA4	ORPHA:1377
HP:0012373	Abnormal eye physiology	1415	CRYBB2	ORPHA:1377
HP:0012373	Abnormal eye physiology	1421	CRYGD	ORPHA:1377
HP:0012373	Abnormal eye physiology	3329	HSPD1	OMIM:612233
HP:0012373	Abnormal eye physiology	1959	EGR2	OMIM:145900
HP:0012373	Abnormal eye physiology	57716	PRX	OMIM:145900
HP:0012373	Abnormal eye physiology	9420	CYP7B1	ORPHA:100986
HP:0012373	Abnormal eye physiology	9420	CYP7B1	OMIM:270800
HP:0012373	Abnormal eye physiology	29926	GMPPA	OMIM:615510
HP:0012373	Abnormal eye physiology	27249	MMADHC	OMIM:277410
HP:0012373	Abnormal eye physiology	26007	TKFC	ORPHA:1369
HP:0012373	Abnormal eye physiology	125988	MICOS13	ORPHA:67047
HP:0012373	Abnormal eye physiology	6609	SMPD1	ORPHA:77293
HP:0012373	Abnormal eye physiology	2058	EPRS1	OMIM:617951
HP:0012373	Abnormal eye physiology	26146	TRAF3IP1	OMIM:616629
HP:0012373	Abnormal eye physiology	57599	WDR48	ORPHA:401800
HP:0012373	Abnormal eye physiology	1641	DCX	OMIM:300067
HP:0012373	Abnormal eye physiology	9419	CRIPT	OMIM:615789
HP:0012373	Abnormal eye physiology	27010	TPK1	OMIM:614458
HP:0012373	Abnormal eye physiology	55644	OSGEP	OMIM:617729
HP:0012373	Abnormal eye physiology	7874	USP7	ORPHA:500055
HP:0012373	Abnormal eye physiology	51501	HIKESHI	OMIM:616881
HP:0012373	Abnormal eye physiology	58494	JAM2	OMIM:618824
HP:0012373	Abnormal eye physiology	4337	MOCS1	OMIM:252150
HP:0012373	Abnormal eye physiology	22934	RPIA	OMIM:608611
HP:0012373	Abnormal eye physiology	4796	TONSL	ORPHA:93357
HP:0012373	Abnormal eye physiology	26047	CNTNAP2	ORPHA:163681
HP:0012373	Abnormal eye physiology	5500	PPP1CB	OMIM:617506
HP:0012373	Abnormal eye physiology	100506658	OCLN	OMIM:251290
HP:0012373	Abnormal eye physiology	9197	SLC33A1	OMIM:614482
HP:0012373	Abnormal eye physiology	55023	PHIP	OMIM:617991
HP:0012373	Abnormal eye physiology	22943	DKK1	ORPHA:268882
HP:0012373	Abnormal eye physiology	23404	EXOSC2	OMIM:617763
HP:0012373	Abnormal eye physiology	22868	FASTKD2	OMIM:618855
HP:0012373	Abnormal eye physiology	785	CACNB4	OMIM:613855
HP:0012373	Abnormal eye physiology	785	CACNB4	ORPHA:211067
HP:0012373	Abnormal eye physiology	55775	TDP1	ORPHA:94124
HP:0012373	Abnormal eye physiology	55187	VPS13D	OMIM:607317
HP:0012373	Abnormal eye physiology	219285	SAMD9L	OMIM:619806
HP:0012373	Abnormal eye physiology	2895	GRID2	ORPHA:363432
HP:0012373	Abnormal eye physiology	51741	WWOX	OMIM:614322
HP:0012373	Abnormal eye physiology	7436	VLDLR	OMIM:224050
HP:0012373	Abnormal eye physiology	54834	GDAP2	OMIM:618369
HP:0012373	Abnormal eye physiology	51271	UBAP1	OMIM:618418
HP:0012373	Abnormal eye physiology	54840	APTX	OMIM:208920
HP:0012373	Abnormal eye physiology	11128	POLR3A	OMIM:607694
HP:0012373	Abnormal eye physiology	875	CBS	ORPHA:394
HP:0012373	Abnormal eye physiology	9759	HDAC4	OMIM:619797
HP:0012373	Abnormal eye physiology	3008	H1-4	OMIM:617537
HP:0012373	Abnormal eye physiology	10992	SF3B2	OMIM:164210
HP:0012373	Abnormal eye physiology	26610	ELP4	OMIM:617141
HP:0012373	Abnormal eye physiology	10730	YME1L1	OMIM:617302
HP:0012373	Abnormal eye physiology	6595	SMARCA2	ORPHA:2728
HP:0012373	Abnormal eye physiology	57589	RIC1	OMIM:618761
HP:0012373	Abnormal eye physiology	708	C1QBP	OMIM:617713
HP:0012373	Abnormal eye physiology	2077	ERF	ORPHA:207
HP:0012373	Abnormal eye physiology	1349	COX7B	ORPHA:2556
HP:0012373	Abnormal eye physiology	3052	HCCS	ORPHA:2556
HP:0012373	Abnormal eye physiology	9241	NOG	OMIM:186500
HP:0012373	Abnormal eye physiology	164	AP1G1	OMIM:619467
HP:0012373	Abnormal eye physiology	23347	SMCHD1	ORPHA:2250
HP:0012373	Abnormal eye physiology	10367	MICU1	OMIM:615673
HP:0012373	Abnormal eye physiology	1859	DYRK1A	ORPHA:464311
HP:0012373	Abnormal eye physiology	55617	TASP1	OMIM:618950
HP:0012373	Abnormal eye physiology	2658	GDF2	ORPHA:774
HP:0012373	Abnormal eye physiology	94	ACVRL1	ORPHA:774
HP:0012373	Abnormal eye physiology	51322	WAC	ORPHA:284169
HP:0012373	Abnormal eye physiology	10717	AP4B1	ORPHA:280763
HP:0012373	Abnormal eye physiology	9179	AP4M1	ORPHA:280763
HP:0012373	Abnormal eye physiology	11154	AP4S1	ORPHA:280763
HP:0012373	Abnormal eye physiology	55084	SOBP	OMIM:613671
HP:0012373	Abnormal eye physiology	6885	MAP3K7	ORPHA:1826
HP:0012373	Abnormal eye physiology	1297	COL9A1	ORPHA:250984
HP:0012373	Abnormal eye physiology	1298	COL9A2	ORPHA:250984
HP:0012373	Abnormal eye physiology	84695	LOXL3	ORPHA:250984
HP:0012373	Abnormal eye physiology	79751	SLC25A22	OMIM:609304
HP:0012373	Abnormal eye physiology	8086	AAAS	OMIM:231550
HP:0012373	Abnormal eye physiology	10397	NDRG1	OMIM:601455
HP:0012373	Abnormal eye physiology	56947	MFF	ORPHA:485421
HP:0012373	Abnormal eye physiology	7841	MOGS	ORPHA:79330
HP:0012373	Abnormal eye physiology	3908	LAMA2	ORPHA:258
HP:0012373	Abnormal eye physiology	353116	RILPL1	OMIM:619790
HP:0012373	Abnormal eye physiology	4791	NFKB2	ORPHA:293978
HP:0012373	Abnormal eye physiology	9698	PUM1	OMIM:617931
HP:0012373	Abnormal eye physiology	4568	MT-TL2	ORPHA:663
HP:0012373	Abnormal eye physiology	4570	MT-TN	ORPHA:663
HP:0012373	Abnormal eye physiology	3736	KCNA1	ORPHA:37612
HP:0012373	Abnormal eye physiology	7040	TGFB1	OMIM:131300
HP:0012373	Abnormal eye physiology	23317	DNAJC13	ORPHA:411602
HP:0012373	Abnormal eye physiology	1981	EIF4G1	ORPHA:411602
HP:0012373	Abnormal eye physiology	55737	VPS35	ORPHA:411602
HP:0012373	Abnormal eye physiology	120892	LRRK2	ORPHA:411602
HP:0012373	Abnormal eye physiology	120892	LRRK2	ORPHA:2828
HP:0012373	Abnormal eye physiology	26058	GIGYF2	ORPHA:411602
HP:0012373	Abnormal eye physiology	7156	TOP3A	OMIM:618098
HP:0012373	Abnormal eye physiology	54832	VPS13C	ORPHA:2828
HP:0012373	Abnormal eye physiology	11315	PARK7	ORPHA:2828
HP:0012373	Abnormal eye physiology	27429	HTRA2	ORPHA:2828
HP:0012373	Abnormal eye physiology	9829	DNAJC6	ORPHA:2828
HP:0012373	Abnormal eye physiology	5420	PODXL	ORPHA:2828
HP:0012373	Abnormal eye physiology	65018	PINK1	ORPHA:2828
HP:0012373	Abnormal eye physiology	5071	PRKN	ORPHA:2828
HP:0012373	Abnormal eye physiology	1890	TYMP	OMIM:603041
HP:0012373	Abnormal eye physiology	92667	MGME1	ORPHA:352447
HP:0012373	Abnormal eye physiology	4665	NAB2	ORPHA:2126
HP:0012373	Abnormal eye physiology	6778	STAT6	ORPHA:2126
HP:0012373	Abnormal eye physiology	1134	CHRNA1	ORPHA:98913
HP:0012373	Abnormal eye physiology	1140	CHRNB1	ORPHA:98913
HP:0012373	Abnormal eye physiology	1144	CHRND	ORPHA:98913
HP:0012373	Abnormal eye physiology	1145	CHRNE	ORPHA:98913
HP:0012373	Abnormal eye physiology	4593	MUSK	ORPHA:98913
HP:0012373	Abnormal eye physiology	5913	RAPSN	ORPHA:98913
HP:0012373	Abnormal eye physiology	221264	AK9	ORPHA:98913
HP:0012373	Abnormal eye physiology	285489	DOK7	ORPHA:98913
HP:0012373	Abnormal eye physiology	3119	HLA-DQB1	OMIM:126200
HP:0012373	Abnormal eye physiology	5133	PDCD1	OMIM:126200
HP:0012373	Abnormal eye physiology	613	BCR	ORPHA:261330
HP:0012373	Abnormal eye physiology	1399	CRKL	ORPHA:261330
HP:0012373	Abnormal eye physiology	7305	TYROBP	ORPHA:2770
HP:0012373	Abnormal eye physiology	22983	MAST1	OMIM:618273
HP:0012373	Abnormal eye physiology	80270	HSD3B7	ORPHA:79301
HP:0012373	Abnormal eye physiology	8882	ZPR1	OMIM:619321
HP:0012373	Abnormal eye physiology	92935	MARS2	OMIM:611390
HP:0012373	Abnormal eye physiology	92935	MARS2	ORPHA:314603
HP:0012373	Abnormal eye physiology	347734	SLC35B2	OMIM:620269
HP:0012373	Abnormal eye physiology	3417	IDH1	ORPHA:99646
HP:0012373	Abnormal eye physiology	4929	NR4A2	ORPHA:98808
HP:0012373	Abnormal eye physiology	3615	IMPDH2	ORPHA:98808
HP:0012373	Abnormal eye physiology	6182	MRPL12	OMIM:618951
HP:0012373	Abnormal eye physiology	9474	ATG5	OMIM:617584
HP:0012373	Abnormal eye physiology	9469	CHST3	OMIM:245600
HP:0012373	Abnormal eye physiology	26229	B3GAT3	OMIM:245600
HP:0012373	Abnormal eye physiology	6135	RPL11	ORPHA:124
HP:0012373	Abnormal eye physiology	6138	RPL15	ORPHA:124
HP:0012373	Abnormal eye physiology	6229	RPS24	ORPHA:124
HP:0012373	Abnormal eye physiology	6125	RPL5	ORPHA:124
HP:0012373	Abnormal eye physiology	6204	RPS10	ORPHA:124
HP:0012373	Abnormal eye physiology	6165	RPL35A	ORPHA:124
HP:0012373	Abnormal eye physiology	6223	RPS19	ORPHA:124
HP:0012373	Abnormal eye physiology	6232	RPS27	ORPHA:124
HP:0012373	Abnormal eye physiology	6231	RPS26	ORPHA:124
HP:0012373	Abnormal eye physiology	11224	RPL35	ORPHA:124
HP:0012373	Abnormal eye physiology	6160	RPL31	ORPHA:124
HP:0012373	Abnormal eye physiology	6218	RPS17	ORPHA:124
HP:0012373	Abnormal eye physiology	6201	RPS7	ORPHA:124
HP:0012373	Abnormal eye physiology	6155	RPL27	ORPHA:124
HP:0012373	Abnormal eye physiology	6154	RPL26	ORPHA:124
HP:0012373	Abnormal eye physiology	6210	RPS15A	ORPHA:124
HP:0012373	Abnormal eye physiology	90121	TSR2	ORPHA:124
HP:0012373	Abnormal eye physiology	6141	RPL18	ORPHA:124
HP:0012373	Abnormal eye physiology	6235	RPS29	ORPHA:124
HP:0012373	Abnormal eye physiology	6234	RPS28	ORPHA:124
HP:0012373	Abnormal eye physiology	285590	SH3PXD2B	OMIM:249420
HP:0012373	Abnormal eye physiology	389692	MAFA	OMIM:147630
HP:0012373	Abnormal eye physiology	6736	SRY	ORPHA:1772
HP:0012373	Abnormal eye physiology	5831	PYCR1	OMIM:614438
HP:0012373	Abnormal eye physiology	5308	PITX2	ORPHA:708
HP:0012373	Abnormal eye physiology	2296	FOXC1	ORPHA:708
HP:0012373	Abnormal eye physiology	81846	SBF2	ORPHA:99956
HP:0012373	Abnormal eye physiology	10535	RNASEH2A	ORPHA:51
HP:0012373	Abnormal eye physiology	84153	RNASEH2C	ORPHA:51
HP:0012373	Abnormal eye physiology	25939	SAMHD1	ORPHA:51
HP:0012373	Abnormal eye physiology	79621	RNASEH2B	ORPHA:51
HP:0012373	Abnormal eye physiology	100147744	RNU7-1	ORPHA:51
HP:0012373	Abnormal eye physiology	134353	LSM11	ORPHA:51
HP:0012373	Abnormal eye physiology	64135	IFIH1	ORPHA:51
HP:0012373	Abnormal eye physiology	124583	CANT1	OMIM:251450
HP:0012373	Abnormal eye physiology	6720	SREBF1	OMIM:158310
HP:0012373	Abnormal eye physiology	3141	HLCS	ORPHA:79242
HP:0012373	Abnormal eye physiology	2706	GJB2	ORPHA:477
HP:0012373	Abnormal eye physiology	2706	GJB2	OMIM:148210
HP:0012373	Abnormal eye physiology	54941	RNF125	OMIM:616260
HP:0012373	Abnormal eye physiology	55699	IARS2	OMIM:616007
HP:0012373	Abnormal eye physiology	1161	ERCC8	ORPHA:90324
HP:0012373	Abnormal eye physiology	2074	ERCC6	ORPHA:90324
HP:0012373	Abnormal eye physiology	404672	GTF2H5	ORPHA:33364
HP:0012373	Abnormal eye physiology	7737	RNF113A	ORPHA:33364
HP:0012373	Abnormal eye physiology	136647	MPLKIP	ORPHA:33364
HP:0012373	Abnormal eye physiology	136647	MPLKIP	OMIM:234050
HP:0012373	Abnormal eye physiology	6897	TARS1	ORPHA:33364
HP:0012373	Abnormal eye physiology	2961	GTF2E2	ORPHA:33364
HP:0012373	Abnormal eye physiology	4547	MTTP	ORPHA:14
HP:0012373	Abnormal eye physiology	22861	NLRP1	OMIM:617388
HP:0012373	Abnormal eye physiology	4081	MAB21L1	OMIM:618479
HP:0012373	Abnormal eye physiology	3930	LBR	ORPHA:779
HP:0012373	Abnormal eye physiology	56244	BTNL2	ORPHA:797
HP:0012373	Abnormal eye physiology	149233	IL23R	ORPHA:117
HP:0012373	Abnormal eye physiology	3586	IL10	ORPHA:117
HP:0012373	Abnormal eye physiology	4210	MEFV	ORPHA:117
HP:0012373	Abnormal eye physiology	1230	CCR1	ORPHA:117
HP:0012373	Abnormal eye physiology	355	FAS	ORPHA:117
HP:0012373	Abnormal eye physiology	3592	IL12A	ORPHA:117
HP:0012373	Abnormal eye physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012373	Abnormal eye physiology	7099	TLR4	ORPHA:117
HP:0012373	Abnormal eye physiology	3459	IFNGR1	ORPHA:117
HP:0012373	Abnormal eye physiology	720	C4A	ORPHA:117
HP:0012373	Abnormal eye physiology	337867	UBAC2	ORPHA:117
HP:0012373	Abnormal eye physiology	51752	ERAP1	ORPHA:117
HP:0012373	Abnormal eye physiology	8302	KLRC4	ORPHA:117
HP:0012373	Abnormal eye physiology	26191	PTPN22	ORPHA:397
HP:0012373	Abnormal eye physiology	3106	HLA-B	ORPHA:397
HP:0012373	Abnormal eye physiology	3123	HLA-DRB1	ORPHA:397
HP:0012373	Abnormal eye physiology	8974	P4HA2	ORPHA:397
HP:0012373	Abnormal eye physiology	4352	MPL	ORPHA:71493
HP:0012373	Abnormal eye physiology	7066	THPO	ORPHA:71493
HP:0012373	Abnormal eye physiology	3717	JAK2	ORPHA:71493
HP:0012373	Abnormal eye physiology	91574	MTRFR	ORPHA:254930
HP:0012373	Abnormal eye physiology	4117	MAK	OMIM:614181
HP:0012373	Abnormal eye physiology	1282	COL4A1	OMIM:175780
HP:0012373	Abnormal eye physiology	51816	ADA2	ORPHA:820
HP:0012373	Abnormal eye physiology	10283	CWC27	ORPHA:166035
HP:0012373	Abnormal eye physiology	4072	EPCAM	ORPHA:144
HP:0012373	Abnormal eye physiology	4292	MLH1	ORPHA:144
HP:0012373	Abnormal eye physiology	5395	PMS2	ORPHA:144
HP:0012373	Abnormal eye physiology	27030	MLH3	ORPHA:144
HP:0012373	Abnormal eye physiology	22909	FAN1	ORPHA:144
HP:0012373	Abnormal eye physiology	7048	TGFBR2	ORPHA:144
HP:0012373	Abnormal eye physiology	3845	KRAS	ORPHA:144
HP:0012373	Abnormal eye physiology	2956	MSH6	ORPHA:144
HP:0012373	Abnormal eye physiology	5378	PMS1	ORPHA:144
HP:0012373	Abnormal eye physiology	4436	MSH2	ORPHA:144
HP:0012373	Abnormal eye physiology	200205	IBA57	ORPHA:468661
HP:0012373	Abnormal eye physiology	200205	IBA57	OMIM:616451
HP:0012373	Abnormal eye physiology	64218	SEMA4A	ORPHA:440437
HP:0012373	Abnormal eye physiology	657	BMPR1A	ORPHA:440437
HP:0012373	Abnormal eye physiology	6224	RPS20	ORPHA:440437
HP:0012373	Abnormal eye physiology	57709	SLC7A14	OMIM:615725
HP:0012373	Abnormal eye physiology	4488	MSX2	OMIM:604757
HP:0012373	Abnormal eye physiology	10210	TOPORS	OMIM:609923
HP:0012373	Abnormal eye physiology	84196	USP48	ORPHA:96253
HP:0012373	Abnormal eye physiology	7157	TP53	ORPHA:96253
HP:0012373	Abnormal eye physiology	9101	USP8	ORPHA:96253
HP:0012373	Abnormal eye physiology	2908	NR3C1	ORPHA:96253
HP:0012373	Abnormal eye physiology	546	ATRX	ORPHA:96253
HP:0012373	Abnormal eye physiology	1181	CLCN2	OMIM:615651
HP:0012373	Abnormal eye physiology	2395	FXN	OMIM:229300
HP:0012373	Abnormal eye physiology	4327	MMP19	OMIM:611543
HP:0012373	Abnormal eye physiology	1462	VCAN	OMIM:143200
HP:0012373	Abnormal eye physiology	7078	TIMP3	ORPHA:59181
HP:0012373	Abnormal eye physiology	50964	SOST	OMIM:269500
HP:0012373	Abnormal eye physiology	26121	PRPF31	OMIM:600138
HP:0012373	Abnormal eye physiology	10594	PRPF8	OMIM:600059
HP:0012373	Abnormal eye physiology	1121	CHM	OMIM:303100
HP:0012373	Abnormal eye physiology	5949	RBP3	OMIM:615233
HP:0012373	Abnormal eye physiology	5949	RBP3	OMIM:268000
HP:0012373	Abnormal eye physiology	583	BBS2	OMIM:616562
HP:0012373	Abnormal eye physiology	84100	ARL6	OMIM:268000
HP:0012373	Abnormal eye physiology	9227	LRAT	OMIM:268000
HP:0012373	Abnormal eye physiology	7401	CLRN1	OMIM:268000
HP:0012373	Abnormal eye physiology	5148	PDE6G	OMIM:268000
HP:0012373	Abnormal eye physiology	5148	PDE6G	OMIM:613582
HP:0012373	Abnormal eye physiology	1259	CNGA1	OMIM:268000
HP:0012373	Abnormal eye physiology	157657	CFAP418	OMIM:268000
HP:0012373	Abnormal eye physiology	157657	CFAP418	OMIM:617406
HP:0012373	Abnormal eye physiology	6101	RP1	OMIM:180100
HP:0012373	Abnormal eye physiology	92211	CDHR1	OMIM:613660
HP:0012373	Abnormal eye physiology	3420	IDH3B	OMIM:612572
HP:0012373	Abnormal eye physiology	24148	PRPF6	OMIM:613983
HP:0012373	Abnormal eye physiology	92840	REEP6	OMIM:617304
HP:0012373	Abnormal eye physiology	10461	MERTK	OMIM:613862
HP:0012373	Abnormal eye physiology	79947	DHDDS	OMIM:613861
HP:0012373	Abnormal eye physiology	9128	PRPF4	OMIM:615922
HP:0012373	Abnormal eye physiology	3419	IDH3A	OMIM:619007
HP:0012373	Abnormal eye physiology	9371	KIF3B	OMIM:618955
HP:0012373	Abnormal eye physiology	84140	FAM161A	OMIM:606068
HP:0012373	Abnormal eye physiology	5191	PEX7	OMIM:614879
HP:0012373	Abnormal eye physiology	4942	OAT	ORPHA:414
HP:0012373	Abnormal eye physiology	55670	PEX26	ORPHA:772
HP:0012373	Abnormal eye physiology	5824	PEX19	ORPHA:772
HP:0012373	Abnormal eye physiology	8504	PEX3	ORPHA:772
HP:0012373	Abnormal eye physiology	9409	PEX16	ORPHA:772
HP:0012373	Abnormal eye physiology	5190	PEX6	ORPHA:772
HP:0012373	Abnormal eye physiology	8799	PEX11B	ORPHA:772
HP:0012373	Abnormal eye physiology	5830	PEX5	ORPHA:772
HP:0012373	Abnormal eye physiology	5189	PEX1	ORPHA:772
HP:0012373	Abnormal eye physiology	5193	PEX12	ORPHA:772
HP:0012373	Abnormal eye physiology	5194	PEX13	ORPHA:772
HP:0012373	Abnormal eye physiology	5195	PEX14	ORPHA:772
HP:0012373	Abnormal eye physiology	5192	PEX10	ORPHA:772
HP:0012373	Abnormal eye physiology	346007	EYS	OMIM:602772
HP:0012373	Abnormal eye physiology	6452	SH3BP2	OMIM:118400
HP:0012373	Abnormal eye physiology	326	AIRE	OMIM:240300
HP:0012373	Abnormal eye physiology	282809	POC1B	OMIM:615973
HP:0012373	Abnormal eye physiology	4901	NRL	OMIM:613750
HP:0012373	Abnormal eye physiology	8565	YARS1	OMIM:619418
HP:0012373	Abnormal eye physiology	64834	ELOVL1	OMIM:618527
HP:0012373	Abnormal eye physiology	6100	RP9	OMIM:180104
HP:0012373	Abnormal eye physiology	55812	SPATA7	OMIM:604232
HP:0012373	Abnormal eye physiology	7840	ALMS1	OMIM:203800
HP:0012373	Abnormal eye physiology	84233	TMEM126A	OMIM:612989
HP:0012373	Abnormal eye physiology	3614	IMPDH1	OMIM:180105
HP:0012373	Abnormal eye physiology	8481	OFD1	OMIM:300424
HP:0012373	Abnormal eye physiology	55857	KIZ	OMIM:615780
HP:0012373	Abnormal eye physiology	55624	POMGNT1	OMIM:617123
HP:0012373	Abnormal eye physiology	375298	CERKL	OMIM:608380
HP:0012373	Abnormal eye physiology	5995	RGR	OMIM:613769
HP:0012373	Abnormal eye physiology	1804	DPP6	ORPHA:2514
HP:0012373	Abnormal eye physiology	84342	COG8	ORPHA:95428
HP:0012373	Abnormal eye physiology	84342	COG8	OMIM:611182
HP:0012373	Abnormal eye physiology	8777	MPDZ	OMIM:615219
HP:0012373	Abnormal eye physiology	324	APC	ORPHA:99818
HP:0012373	Abnormal eye physiology	146167	SLC38A8	OMIM:609218
HP:0012373	Abnormal eye physiology	5528	PPP2R5D	ORPHA:457279
HP:0012373	Abnormal eye physiology	92255	LMBRD2	OMIM:619694
HP:0012373	Abnormal eye physiology	261734	NPHP4	OMIM:606996
HP:0012373	Abnormal eye physiology	3769	KCNJ13	ORPHA:65
HP:0012373	Abnormal eye physiology	343035	RD3	ORPHA:65
HP:0012373	Abnormal eye physiology	145226	RDH12	ORPHA:65
HP:0012373	Abnormal eye physiology	64802	NMNAT1	ORPHA:65
HP:0012373	Abnormal eye physiology	80184	CEP290	ORPHA:65
HP:0012373	Abnormal eye physiology	10383	TUBB4B	ORPHA:65
HP:0012373	Abnormal eye physiology	9742	IFT140	ORPHA:65
HP:0012373	Abnormal eye physiology	85015	USP45	ORPHA:65
HP:0012373	Abnormal eye physiology	6121	RPE65	ORPHA:65
HP:0012373	Abnormal eye physiology	6121	RPE65	OMIM:613794
HP:0012373	Abnormal eye physiology	23418	CRB1	ORPHA:65
HP:0012373	Abnormal eye physiology	5130	PCYT1A	ORPHA:65
HP:0012373	Abnormal eye physiology	9657	IQCB1	ORPHA:65
HP:0012373	Abnormal eye physiology	392255	GDF6	ORPHA:65
HP:0012373	Abnormal eye physiology	167691	LCA5	ORPHA:65
HP:0012373	Abnormal eye physiology	3257	HPS1	OMIM:203300
HP:0012373	Abnormal eye physiology	130557	ZNF513	OMIM:613617
HP:0012373	Abnormal eye physiology	4810	NHS	OMIM:302200
HP:0012373	Abnormal eye physiology	10195	ALG3	OMIM:601110
HP:0012373	Abnormal eye physiology	6809	STX3	OMIM:619446
HP:0012373	Abnormal eye physiology	5981	RFC1	OMIM:614575
HP:0012373	Abnormal eye physiology	4287	ATXN3	OMIM:109150
HP:0012373	Abnormal eye physiology	1938	EEF2	OMIM:609306
HP:0012373	Abnormal eye physiology	1938	EEF2	ORPHA:101112
HP:0012373	Abnormal eye physiology	55703	POLR3B	OMIM:614381
HP:0012373	Abnormal eye physiology	6310	ATXN1	OMIM:164400
HP:0012373	Abnormal eye physiology	6311	ATXN2	OMIM:183090
HP:0012373	Abnormal eye physiology	6812	STXBP1	OMIM:612164
HP:0012373	Abnormal eye physiology	1200	TPP1	ORPHA:284324
HP:0012373	Abnormal eye physiology	1200	TPP1	OMIM:609270
HP:0012373	Abnormal eye physiology	55129	ANO10	ORPHA:284289
HP:0012373	Abnormal eye physiology	8913	CACNA1G	ORPHA:458803
HP:0012373	Abnormal eye physiology	8913	CACNA1G	OMIM:616795
HP:0012373	Abnormal eye physiology	10273	STUB1	ORPHA:412057
HP:0012373	Abnormal eye physiology	7515	XRCC1	OMIM:617633
HP:0012373	Abnormal eye physiology	23533	PIK3R5	ORPHA:64753
HP:0012373	Abnormal eye physiology	23064	SETX	ORPHA:64753
HP:0012373	Abnormal eye physiology	23064	SETX	OMIM:606002
HP:0012373	Abnormal eye physiology	57679	ALS2	OMIM:606353
HP:0012373	Abnormal eye physiology	7345	UCHL1	OMIM:620221
HP:0012373	Abnormal eye physiology	3752	KCND3	OMIM:607346
HP:0012373	Abnormal eye physiology	23203	PMPCA	OMIM:213200
HP:0012373	Abnormal eye physiology	57410	SCYL1	ORPHA:466794
HP:0012373	Abnormal eye physiology	5582	PRKCG	ORPHA:98763
HP:0012373	Abnormal eye physiology	1822	ATN1	ORPHA:101
HP:0012373	Abnormal eye physiology	2332	FMR1	OMIM:300623
HP:0012373	Abnormal eye physiology	81790	RNF170	OMIM:619686
HP:0012373	Abnormal eye physiology	10935	PRDX3	OMIM:619862
HP:0012373	Abnormal eye physiology	23503	ZFYVE26	ORPHA:100996
HP:0012373	Abnormal eye physiology	54664	TMEM106B	OMIM:617964
HP:0012373	Abnormal eye physiology	80208	SPG11	ORPHA:2822
HP:0012373	Abnormal eye physiology	2705	GJB1	ORPHA:1175
HP:0012373	Abnormal eye physiology	492	ATP2B3	ORPHA:314978
HP:0012373	Abnormal eye physiology	9711	RUBCN	OMIM:615705
HP:0012373	Abnormal eye physiology	9711	RUBCN	ORPHA:404499
HP:0012373	Abnormal eye physiology	6804	STX1A	ORPHA:904
HP:0012373	Abnormal eye physiology	7461	CLIP2	ORPHA:904
HP:0012373	Abnormal eye physiology	8468	FKBP6	ORPHA:904
HP:0012373	Abnormal eye physiology	5982	RFC2	ORPHA:904
HP:0012373	Abnormal eye physiology	2969	GTF2I	ORPHA:904
HP:0012373	Abnormal eye physiology	3984	LIMK1	ORPHA:904
HP:0012373	Abnormal eye physiology	9569	GTF2IRD1	ORPHA:904
HP:0012373	Abnormal eye physiology	155382	VPS37D	ORPHA:904
HP:0012373	Abnormal eye physiology	155368	METTL27	ORPHA:904
HP:0012373	Abnormal eye physiology	114049	BUD23	ORPHA:904
HP:0012373	Abnormal eye physiology	7458	EIF4H	ORPHA:904
HP:0012373	Abnormal eye physiology	84163	GTF2IRD2	ORPHA:904
HP:0012373	Abnormal eye physiology	9275	BCL7B	ORPHA:904
HP:0012373	Abnormal eye physiology	26608	TBL2	ORPHA:904
HP:0012373	Abnormal eye physiology	653361	NCF1	ORPHA:904
HP:0012373	Abnormal eye physiology	135886	TMEM270	ORPHA:904
HP:0012373	Abnormal eye physiology	51085	MLXIPL	ORPHA:904
HP:0012373	Abnormal eye physiology	9031	BAZ1B	ORPHA:904
HP:0012373	Abnormal eye physiology	2006	ELN	ORPHA:904
HP:0012373	Abnormal eye physiology	4935	GPR143	OMIM:300500
HP:0012373	Abnormal eye physiology	1621	DBH	ORPHA:230
HP:0012373	Abnormal eye physiology	91452	ACBD5	OMIM:618863
HP:0012373	Abnormal eye physiology	1182	CLCN3	OMIM:619512
HP:0012373	Abnormal eye physiology	246243	RNASEH1	ORPHA:329336
HP:0012373	Abnormal eye physiology	246243	RNASEH1	OMIM:616479
HP:0012373	Abnormal eye physiology	5885	RAD21	OMIM:614701
HP:0012373	Abnormal eye physiology	5885	RAD21	OMIM:611376
HP:0012373	Abnormal eye physiology	55628	ZNF407	OMIM:619557
HP:0012373	Abnormal eye physiology	246329	STAC3	ORPHA:168572
HP:0012373	Abnormal eye physiology	118987	PDZD8	OMIM:620021
HP:0012373	Abnormal eye physiology	526	ATP6V1B2	ORPHA:79500
HP:0012373	Abnormal eye physiology	57465	TBC1D24	ORPHA:79500
HP:0012373	Abnormal eye physiology	55209	SETD5	ORPHA:404440
HP:0012373	Abnormal eye physiology	5339	PLEC	ORPHA:254361
HP:0012373	Abnormal eye physiology	4094	MAF	ORPHA:1272
HP:0012373	Abnormal eye physiology	2934	GSN	ORPHA:85448
HP:0012373	Abnormal eye physiology	9578	CDC42BPB	OMIM:619841
HP:0012373	Abnormal eye physiology	6329	SCN4A	OMIM:614198
HP:0012373	Abnormal eye physiology	4893	NRAS	OMIM:613224
HP:0012373	Abnormal eye physiology	4953	ODC1	ORPHA:544488
HP:0012373	Abnormal eye physiology	55768	NGLY1	ORPHA:404454
HP:0012373	Abnormal eye physiology	3767	KCNJ11	ORPHA:79134
HP:0012373	Abnormal eye physiology	3767	KCNJ11	ORPHA:99885
HP:0012373	Abnormal eye physiology	3767	KCNJ11	OMIM:618856
HP:0012373	Abnormal eye physiology	6833	ABCC8	ORPHA:79134
HP:0012373	Abnormal eye physiology	6833	ABCC8	ORPHA:99885
HP:0012373	Abnormal eye physiology	5053	PAH	ORPHA:2209
HP:0012373	Abnormal eye physiology	6774	STAT3	ORPHA:99885
HP:0012373	Abnormal eye physiology	2645	GCK	ORPHA:99885
HP:0012373	Abnormal eye physiology	3651	PDX1	ORPHA:99885
HP:0012373	Abnormal eye physiology	3630	INS	ORPHA:99885
HP:0012373	Abnormal eye physiology	3756	KCNH1	ORPHA:420561
HP:0012373	Abnormal eye physiology	7298	TYMS	OMIM:620040
HP:0012373	Abnormal eye physiology	1146	CHRNG	OMIM:265000
HP:0012373	Abnormal eye physiology	7846	TUBA1A	ORPHA:467166
HP:0012373	Abnormal eye physiology	7084	TK2	ORPHA:254875
HP:0012373	Abnormal eye physiology	165	AEBP1	OMIM:618000
HP:0012373	Abnormal eye physiology	165	AEBP1	ORPHA:536532
HP:0012373	Abnormal eye physiology	8260	NAA10	OMIM:300855
HP:0012373	Abnormal eye physiology	1716	DGUOK	ORPHA:329314
HP:0012373	Abnormal eye physiology	29967	LRP12	OMIM:164310
HP:0012373	Abnormal eye physiology	23479	ISCU	OMIM:255125
HP:0012373	Abnormal eye physiology	1280	COL2A1	ORPHA:485
HP:0012373	Abnormal eye physiology	6261	RYR1	OMIM:619542
HP:0012373	Abnormal eye physiology	23028	KDM1A	ORPHA:477993
HP:0012373	Abnormal eye physiology	26053	AUTS2	ORPHA:352490
HP:0012373	Abnormal eye physiology	5442	POLRMT	OMIM:619743
HP:0012373	Abnormal eye physiology	4858	NOVA2	OMIM:618859
HP:0012373	Abnormal eye physiology	23384	SPECC1L	OMIM:145420
HP:0012373	Abnormal eye physiology	55690	PACS1	ORPHA:329224
HP:0012373	Abnormal eye physiology	55753	OGDHL	OMIM:619701
HP:0012373	Abnormal eye physiology	3425	IDUA	OMIM:607014
HP:0012373	Abnormal eye physiology	6654	SOS1	OMIM:610733
HP:0012373	Abnormal eye physiology	7291	TWIST1	OMIM:180750
HP:0012373	Abnormal eye physiology	7490	WT1	OMIM:106210
HP:0012373	Abnormal eye physiology	8085	KMT2D	OMIM:147920
HP:0012373	Abnormal eye physiology	7403	KDM6A	OMIM:147920
HP:0012373	Abnormal eye physiology	51660	MPC1	OMIM:614741
HP:0012373	Abnormal eye physiology	129285	PPP1R21	OMIM:619383
HP:0012373	Abnormal eye physiology	55163	PNPO	OMIM:610090
HP:0012373	Abnormal eye physiology	23095	KIF1B	OMIM:256700
HP:0012373	Abnormal eye physiology	2783	GNB2	OMIM:619503
HP:0012373	Abnormal eye physiology	84570	COL25A1	ORPHA:91411
HP:0012373	Abnormal eye physiology	79776	ZFHX4	ORPHA:91411
HP:0012373	Abnormal eye physiology	84343	HPS3	OMIM:614072
HP:0012373	Abnormal eye physiology	5393	EXOSC9	OMIM:618065
HP:0012373	Abnormal eye physiology	55503	TRPV6	OMIM:618188
HP:0012373	Abnormal eye physiology	3852	KRT5	ORPHA:79396
HP:0012373	Abnormal eye physiology	3861	KRT14	ORPHA:79396
HP:0012373	Abnormal eye physiology	3166	HMX1	OMIM:612109
HP:0012373	Abnormal eye physiology	6091	ROBO1	OMIM:257400
HP:0012373	Abnormal eye physiology	22880	MORC2	ORPHA:466768
HP:0012373	Abnormal eye physiology	4646	MYO6	OMIM:607821
HP:0012373	Abnormal eye physiology	83696	TRAPPC9	ORPHA:352530
HP:0012373	Abnormal eye physiology	10749	KIF1C	ORPHA:397946
HP:0012373	Abnormal eye physiology	10749	KIF1C	OMIM:611302
HP:0012373	Abnormal eye physiology	4099	MAG	OMIM:616680
HP:0012373	Abnormal eye physiology	8294	H4C9	OMIM:619951
HP:0012373	Abnormal eye physiology	6775	STAT4	ORPHA:85410
HP:0012373	Abnormal eye physiology	3560	IL2RB	ORPHA:85410
HP:0012373	Abnormal eye physiology	79722	ANKRD55	ORPHA:85410
HP:0012373	Abnormal eye physiology	919	CD247	ORPHA:85410
HP:0012373	Abnormal eye physiology	3559	IL2RA	ORPHA:85410
HP:0012373	Abnormal eye physiology	5771	PTPN2	ORPHA:85410
HP:0012373	Abnormal eye physiology	7299	TYR	OMIM:203100
HP:0012373	Abnormal eye physiology	123263	MTFMT	OMIM:614947
HP:0012373	Abnormal eye physiology	80207	OPA3	OMIM:165300
HP:0012373	Abnormal eye physiology	80207	OPA3	OMIM:258501
HP:0012373	Abnormal eye physiology	80207	OPA3	ORPHA:67036
HP:0012373	Abnormal eye physiology	8566	PDXK	OMIM:618511
HP:0012373	Abnormal eye physiology	1638	DCT	OMIM:619165
HP:0012373	Abnormal eye physiology	755	CFAP410	OMIM:617547
HP:0012373	Abnormal eye physiology	27229	TUBGCP4	OMIM:616335
HP:0012373	Abnormal eye physiology	84197	POMK	OMIM:615249
HP:0012373	Abnormal eye physiology	169522	KCNV2	OMIM:610356
HP:0012373	Abnormal eye physiology	63915	BLOC1S5	OMIM:619172
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309271
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309263
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309256
HP:0012373	Abnormal eye physiology	5660	PSAP	ORPHA:309271
HP:0012373	Abnormal eye physiology	5660	PSAP	ORPHA:309263
HP:0012373	Abnormal eye physiology	5660	PSAP	ORPHA:309256
HP:0012373	Abnormal eye physiology	1738	DLD	ORPHA:2394
HP:0012373	Abnormal eye physiology	215	ABCD1	ORPHA:139396
HP:0012373	Abnormal eye physiology	9364	RAB28	OMIM:615374
HP:0012373	Abnormal eye physiology	283652	SLC24A5	OMIM:113750
HP:0012373	Abnormal eye physiology	283652	SLC24A5	ORPHA:370097
HP:0012373	Abnormal eye physiology	7123	CLEC3B	OMIM:619977
HP:0012373	Abnormal eye physiology	79140	CCDC28B	OMIM:209900
HP:0012373	Abnormal eye physiology	54675	CRLS1	OMIM:620167
HP:0012373	Abnormal eye physiology	8546	AP3B1	OMIM:608233
HP:0012373	Abnormal eye physiology	157680	VPS13B	OMIM:216550
HP:0012373	Abnormal eye physiology	1130	LYST	ORPHA:167
HP:0012373	Abnormal eye physiology	1130	LYST	OMIM:214500
HP:0012373	Abnormal eye physiology	5833	PCYT2	OMIM:618770
HP:0012373	Abnormal eye physiology	5950	RBP4	OMIM:615147
HP:0012373	Abnormal eye physiology	1201	CLN3	OMIM:204200
HP:0012373	Abnormal eye physiology	2201	FBN2	OMIM:616118
HP:0012373	Abnormal eye physiology	11081	KERA	OMIM:217300
HP:0012373	Abnormal eye physiology	83394	PITPNM3	OMIM:600977
HP:0012373	Abnormal eye physiology	1186	CLCN7	OMIM:618541
HP:0012373	Abnormal eye physiology	4952	OCRL	OMIM:309000
HP:0012373	Abnormal eye physiology	402	ARL2	OMIM:619082
HP:0012373	Abnormal eye physiology	89781	HPS4	OMIM:614073
HP:0012373	Abnormal eye physiology	11234	HPS5	OMIM:614074
HP:0012373	Abnormal eye physiology	368	ABCC6	OMIM:177850
HP:0012373	Abnormal eye physiology	368	ABCC6	OMIM:264800
HP:0012373	Abnormal eye physiology	79803	HPS6	OMIM:614075
HP:0012373	Abnormal eye physiology	84062	DTNBP1	OMIM:614076
HP:0012373	Abnormal eye physiology	3859	KRT12	OMIM:122100
HP:0012373	Abnormal eye physiology	6742	SSBP1	OMIM:165510
HP:0012373	Abnormal eye physiology	83723	TLCD3B	OMIM:619531
HP:0012373	Abnormal eye physiology	7867	MAPKAPK3	OMIM:617111
HP:0012373	Abnormal eye physiology	83938	LRMDA	OMIM:615179
HP:0012373	Abnormal eye physiology	11152	WDR45	OMIM:615179
HP:0012373	Abnormal eye physiology	6389	SDHA	ORPHA:3208
HP:0012373	Abnormal eye physiology	6390	SDHB	ORPHA:3208
HP:0012373	Abnormal eye physiology	644096	SDHAF1	ORPHA:3208
HP:0012373	Abnormal eye physiology	26022	TMEM98	OMIM:615972
HP:0012373	Abnormal eye physiology	23093	TTLL5	OMIM:615860
HP:0012373	Abnormal eye physiology	129880	BBS5	OMIM:615983
HP:0012373	Abnormal eye physiology	113457	TUBA3D	OMIM:617928
HP:0012373	Abnormal eye physiology	8905	AP1S2	OMIM:304340
HP:0012373	Abnormal eye physiology	4157	MC1R	ORPHA:79432
HP:0012373	Abnormal eye physiology	4157	MC1R	OMIM:203200
HP:0012373	Abnormal eye physiology	4948	OCA2	ORPHA:79432
HP:0012373	Abnormal eye physiology	4948	OCA2	OMIM:203200
HP:0012373	Abnormal eye physiology	51151	SLC45A2	ORPHA:79435
HP:0012373	Abnormal eye physiology	406987	MIR204	OMIM:616722
HP:0012373	Abnormal eye physiology	10806	SDCCAG8	OMIM:615993
HP:0012373	Abnormal eye physiology	406960	MIR184	OMIM:614303
HP:0012373	Abnormal eye physiology	6507	SLC1A3	ORPHA:209967
HP:0012373	Abnormal eye physiology	256471	MFSD8	OMIM:616170
HP:0012373	Abnormal eye physiology	54765	TRIM44	OMIM:617142
HP:0012373	Abnormal eye physiology	83552	MFRP	OMIM:611040
HP:0012373	Abnormal eye physiology	11190	CEP250	OMIM:618358
HP:0012373	Abnormal eye physiology	91869	RFT1	OMIM:612015
HP:0012373	Abnormal eye physiology	128338	DRAM2	OMIM:616502
HP:0012373	Abnormal eye physiology	267010	RNU12	OMIM:620208
HP:0012373	Abnormal eye physiology	91851	CHRDL1	OMIM:309300
HP:0012373	Abnormal eye physiology	1001	CDH3	OMIM:601553
HP:0012373	Abnormal eye physiology	201973	PRIMPOL	OMIM:615420
HP:0012373	Abnormal eye physiology	9445	ITM2B	OMIM:616079
HP:0012373	Abnormal eye physiology	64840	PORCN	OMIM:305600
HP:0012373	Abnormal eye physiology	87178	PNPT1	ORPHA:101111
HP:0012373	Abnormal eye physiology	87178	PNPT1	OMIM:608703
HP:0012373	Abnormal eye physiology	55213	RCBTB1	OMIM:617175
HP:0012373	Abnormal eye physiology	55229	PANK4	OMIM:619593
HP:0012373	Abnormal eye physiology	4043	LRPAP1	OMIM:615431
HP:0012373	Abnormal eye physiology	4070	TACSTD2	OMIM:204870
HP:0012373	Abnormal eye physiology	998	CDC42	ORPHA:487796
HP:0012373	Abnormal eye physiology	8936	WASF1	OMIM:618707
HP:0012373	Abnormal eye physiology	1495	CTNNA1	OMIM:608970
HP:0012373	Abnormal eye physiology	10682	EBP	OMIM:300960
HP:0012373	Abnormal eye physiology	64131	XYLT1	OMIM:264800
HP:0012373	Abnormal eye physiology	64132	XYLT2	OMIM:264800
HP:0012373	Abnormal eye physiology	80210	ARMC9	OMIM:617622
HP:0012373	Abnormal eye physiology	4140	MARK3	OMIM:618283
HP:0012373	Abnormal eye physiology	112752	IFT43	OMIM:617871
HP:0012373	Abnormal eye physiology	387	RHOA	OMIM:618727
HP:0012373	Abnormal eye physiology	51594	NBAS	OMIM:614800
HP:0012373	Abnormal eye physiology	57728	WDR19	OMIM:616307
HP:0012373	Abnormal eye physiology	6522	SLC4A2	OMIM:620366
HP:0012373	Abnormal eye physiology	5076	PAX2	OMIM:120330
HP:0012373	Abnormal eye physiology	23155	CLCC1	OMIM:609913
HP:0012373	Abnormal eye physiology	9699	RIMS2	OMIM:618970
HP:0012373	Abnormal eye physiology	23102	TBC1D2B	ORPHA:397973
HP:0012373	Abnormal eye physiology	3832	KIF11	OMIM:152950
HP:0012373	Abnormal eye physiology	10939	AFG3L2	OMIM:618977
HP:0012373	Abnormal eye physiology	1414	CRYBB1	OMIM:611544
HP:0012373	Abnormal eye physiology	5297	PI4KA	OMIM:619708
HP:0012373	Abnormal eye physiology	25974	MMACHC	OMIM:277400
HP:0012373	Abnormal eye physiology	5052	PRDX1	OMIM:277400
HP:0012373	Abnormal eye physiology	55157	DARS2	ORPHA:137898
HP:0012373	Abnormal eye physiology	6908	TBP	OMIM:607136
HP:0012373	Abnormal eye physiology	56623	INPP5E	ORPHA:75858
HP:0012373	Abnormal eye physiology	582	BBS1	ORPHA:791
HP:0012373	Abnormal eye physiology	23568	ARL2BP	ORPHA:791
HP:0012373	Abnormal eye physiology	54806	AHI1	ORPHA:791
HP:0012373	Abnormal eye physiology	4751	NEK2	ORPHA:791
HP:0012373	Abnormal eye physiology	8100	IFT88	ORPHA:791
HP:0012373	Abnormal eye physiology	23020	SNRNP200	ORPHA:791
HP:0012373	Abnormal eye physiology	762	CA4	ORPHA:791
HP:0012373	Abnormal eye physiology	196	AHR	ORPHA:791
HP:0012373	Abnormal eye physiology	196	AHR	OMIM:618345
HP:0012373	Abnormal eye physiology	123016	TTC8	ORPHA:791
HP:0012373	Abnormal eye physiology	25794	FSCN2	ORPHA:791
HP:0012373	Abnormal eye physiology	57670	KIAA1549	ORPHA:791
HP:0012373	Abnormal eye physiology	7275	TUB	ORPHA:791
HP:0012373	Abnormal eye physiology	768206	PRCD	ORPHA:791
HP:0012373	Abnormal eye physiology	5145	PDE6A	ORPHA:791
HP:0012373	Abnormal eye physiology	2979	GUCA1B	ORPHA:791
HP:0012373	Abnormal eye physiology	1258	CNGB1	ORPHA:791
HP:0012373	Abnormal eye physiology	60509	AGBL5	ORPHA:791
HP:0012373	Abnormal eye physiology	388939	PCARE	ORPHA:791
HP:0012373	Abnormal eye physiology	9129	PRPF3	ORPHA:791
HP:0012373	Abnormal eye physiology	55975	KLHL7	ORPHA:791
HP:0012373	Abnormal eye physiology	5621	PRNP	ORPHA:282166
HP:0012373	Abnormal eye physiology	55027	HEATR3	OMIM:620072
HP:0012373	Abnormal eye physiology	22827	PUF60	ORPHA:508498
HP:0012373	Abnormal eye physiology	2239	GPC4	OMIM:301026
HP:0012373	Abnormal eye physiology	6611	SMS	ORPHA:3063
HP:0012373	Abnormal eye physiology	116931	MED12L	OMIM:618872
HP:0012373	Abnormal eye physiology	51434	ANAPC7	OMIM:619699
HP:0012373	Abnormal eye physiology	83479	DDX59	OMIM:174300
HP:0012373	Abnormal eye physiology	57539	WDR35	OMIM:613610
HP:0012373	Abnormal eye physiology	11043	MID2	OMIM:300928
HP:0012373	Abnormal eye physiology	6650	CAPN15	OMIM:619318
HP:0012373	Abnormal eye physiology	7355	SLC35A2	ORPHA:356961
HP:0012373	Abnormal eye physiology	29968	PSAT1	ORPHA:284417
HP:0012373	Abnormal eye physiology	8842	PROM1	ORPHA:827
HP:0012373	Abnormal eye physiology	5961	PRPH2	ORPHA:827
HP:0012373	Abnormal eye physiology	6785	ELOVL4	ORPHA:827
HP:0012373	Abnormal eye physiology	24	ABCA4	ORPHA:827
HP:0012373	Abnormal eye physiology	54714	CNGB3	ORPHA:827
HP:0012373	Abnormal eye physiology	6513	SLC2A1	OMIM:606777
HP:0012373	Abnormal eye physiology	6513	SLC2A1	ORPHA:71277
HP:0012373	Abnormal eye physiology	54539	NDUFB11	ORPHA:2609
HP:0012373	Abnormal eye physiology	25915	NDUFAF3	ORPHA:2609
HP:0012373	Abnormal eye physiology	51103	NDUFAF1	ORPHA:2609
HP:0012373	Abnormal eye physiology	91942	NDUFAF2	ORPHA:2609
HP:0012373	Abnormal eye physiology	51300	TIMMDC1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4716	NDUFB10	ORPHA:2609
HP:0012373	Abnormal eye physiology	4723	NDUFV1	ORPHA:2609
HP:0012373	Abnormal eye physiology	55572	FOXRED1	ORPHA:2609
HP:0012373	Abnormal eye physiology	284184	NDUFAF8	ORPHA:2609
HP:0012373	Abnormal eye physiology	55863	TMEM126B	ORPHA:2609
HP:0012373	Abnormal eye physiology	4535	MT-ND1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4537	MT-ND3	ORPHA:2609
HP:0012373	Abnormal eye physiology	4729	NDUFV2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4694	NDUFA1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4720	NDUFS2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4726	NDUFS6	ORPHA:2609
HP:0012373	Abnormal eye physiology	4728	NDUFS8	ORPHA:2609
HP:0012373	Abnormal eye physiology	4722	NDUFS3	ORPHA:2609
HP:0012373	Abnormal eye physiology	79133	NDUFAF5	ORPHA:2609
HP:0012373	Abnormal eye physiology	126328	NDUFA11	ORPHA:2609
HP:0012373	Abnormal eye physiology	4709	NDUFB3	ORPHA:2609
HP:0012373	Abnormal eye physiology	80224	NUBPL	ORPHA:2609
HP:0012373	Abnormal eye physiology	29078	NDUFAF4	ORPHA:2609
HP:0012373	Abnormal eye physiology	374291	NDUFS7	ORPHA:2609
HP:0012373	Abnormal eye physiology	4700	NDUFA6	ORPHA:2609
HP:0012373	Abnormal eye physiology	4536	MT-ND2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4719	NDUFS1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4715	NDUFB9	ORPHA:2609
HP:0012373	Abnormal eye physiology	84504	NKX6-2	ORPHA:527497
HP:0012373	Abnormal eye physiology	8314	BAP1	ORPHA:2495
HP:0012373	Abnormal eye physiology	4771	NF2	ORPHA:2495
HP:0012373	Abnormal eye physiology	6598	SMARCB1	ORPHA:2495
HP:0012373	Abnormal eye physiology	5155	PDGFB	ORPHA:2495
HP:0012373	Abnormal eye physiology	84231	TRAF7	ORPHA:2495
HP:0012373	Abnormal eye physiology	6608	SMO	ORPHA:2495
HP:0012373	Abnormal eye physiology	207	AKT1	ORPHA:2495
HP:0012373	Abnormal eye physiology	5290	PIK3CA	ORPHA:2495
HP:0012373	Abnormal eye physiology	7015	TERT	ORPHA:2495
HP:0012373	Abnormal eye physiology	51684	SUFU	ORPHA:2495
HP:0012373	Abnormal eye physiology	6605	SMARCE1	ORPHA:2495
HP:0012373	Abnormal eye physiology	88	ACTN2	OMIM:618654
HP:0012373	Abnormal eye physiology	8626	TP63	ORPHA:69085
HP:0012373	Abnormal eye physiology	2562	GABRB3	ORPHA:64280
HP:0012373	Abnormal eye physiology	2554	GABRA1	ORPHA:64280
HP:0012373	Abnormal eye physiology	8912	CACNA1H	ORPHA:64280
HP:0012373	Abnormal eye physiology	8629	JRK	ORPHA:64280
HP:0012373	Abnormal eye physiology	2566	GABRG2	ORPHA:64280
HP:0012373	Abnormal eye physiology	135	ADORA2A	ORPHA:363549
HP:0012373	Abnormal eye physiology	3708	ITPR1	OMIM:606658
HP:0012373	Abnormal eye physiology	7518	XRCC4	OMIM:616541
HP:0012373	Abnormal eye physiology	4125	MAN2B1	OMIM:248500
HP:0012373	Abnormal eye physiology	255928	SYT14	OMIM:614229
HP:0012373	Abnormal eye physiology	54974	THG1L	OMIM:618800
HP:0012373	Abnormal eye physiology	51259	TMEM216	OMIM:608091
HP:0012373	Abnormal eye physiology	5048	PAFAH1B1	ORPHA:95232
HP:0012373	Abnormal eye physiology	4361	MRE11	OMIM:604391
HP:0012373	Abnormal eye physiology	724066	ATXN8	ORPHA:98760
HP:0012373	Abnormal eye physiology	724066	ATXN8	OMIM:608768
HP:0012373	Abnormal eye physiology	6315	ATXN8OS	ORPHA:98760
HP:0012373	Abnormal eye physiology	6315	ATXN8OS	OMIM:608768
HP:0012373	Abnormal eye physiology	25814	ATXN10	ORPHA:98761
HP:0012373	Abnormal eye physiology	25814	ATXN10	OMIM:603516
HP:0012373	Abnormal eye physiology	5162	PDHB	ORPHA:255138
HP:0012373	Abnormal eye physiology	6712	SPTBN2	OMIM:600224
HP:0012373	Abnormal eye physiology	10528	NOP56	OMIM:614153
HP:0012373	Abnormal eye physiology	10352	WARS2	ORPHA:572798
HP:0012373	Abnormal eye physiology	2259	FGF14	OMIM:193003
HP:0012373	Abnormal eye physiology	3781	KCNN2	OMIM:619724
HP:0012373	Abnormal eye physiology	26278	SACS	OMIM:270550
HP:0012373	Abnormal eye physiology	3703	STT3A	ORPHA:370921
HP:0012373	Abnormal eye physiology	22926	ATF6	ORPHA:49382
HP:0012373	Abnormal eye physiology	5146	PDE6C	ORPHA:49382
HP:0012373	Abnormal eye physiology	6103	RPGR	ORPHA:49382
HP:0012373	Abnormal eye physiology	5149	PDE6H	ORPHA:49382
HP:0012373	Abnormal eye physiology	2780	GNAT2	ORPHA:49382
HP:0012373	Abnormal eye physiology	1261	CNGA3	ORPHA:49382
HP:0012373	Abnormal eye physiology	26504	CNNM4	OMIM:217080
HP:0012373	Abnormal eye physiology	9181	ARHGEF2	OMIM:617523
HP:0012373	Abnormal eye physiology	103	ADAR	ORPHA:225154
HP:0012373	Abnormal eye physiology	64127	NOD2	OMIM:186580
HP:0012373	Abnormal eye physiology	64221	ROBO3	ORPHA:2744
HP:0012373	Abnormal eye physiology	64221	ROBO3	OMIM:607313
HP:0012373	Abnormal eye physiology	1630	DCC	ORPHA:2744
HP:0012373	Abnormal eye physiology	1630	DCC	OMIM:617542
HP:0012373	Abnormal eye physiology	3198	HOXA1	OMIM:601536
HP:0012373	Abnormal eye physiology	2629	GBA1	OMIM:231000
HP:0012373	Abnormal eye physiology	6792	CDKL5	ORPHA:3095
HP:0012373	Abnormal eye physiology	22854	NTNG1	ORPHA:3095
HP:0012373	Abnormal eye physiology	9568	GABBR2	ORPHA:3095
HP:0012373	Abnormal eye physiology	4204	MECP2	ORPHA:3095
HP:0012373	Abnormal eye physiology	8243	SMC1A	ORPHA:3095
HP:0012373	Abnormal eye physiology	5428	POLG	OMIM:157640
HP:0012373	Abnormal eye physiology	2902	GRIN1	ORPHA:208447
HP:0012373	Abnormal eye physiology	91147	TMEM67	OMIM:602152
HP:0012373	Abnormal eye physiology	6094	ROM1	OMIM:608133
HP:0012373	Abnormal eye physiology	114902	C1QTNF5	OMIM:605670
HP:0012373	Abnormal eye physiology	10381	TUBB3	OMIM:600638
HP:0012373	Abnormal eye physiology	8106	PABPN1	OMIM:164300
HP:0012373	Abnormal eye physiology	10755	GIPC1	ORPHA:98897
HP:0012373	Abnormal eye physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0012373	Abnormal eye physiology	471	ATIC	ORPHA:250977
HP:0012373	Abnormal eye physiology	471	ATIC	OMIM:608688
HP:0012373	Abnormal eye physiology	1757	SARDH	ORPHA:3129
HP:0012373	Abnormal eye physiology	286053	NSMCE2	ORPHA:436182
HP:0012373	Abnormal eye physiology	4137	MAPT	ORPHA:240103
HP:0012373	Abnormal eye physiology	726	CAPN5	OMIM:193235
HP:0012373	Abnormal eye physiology	7439	BEST1	OMIM:193220
HP:0012373	Abnormal eye physiology	5624	PROC	OMIM:612304
HP:0012373	Abnormal eye physiology	6247	RS1	OMIM:312700
HP:0012373	Abnormal eye physiology	5925	RB1	OMIM:180200
HP:0012373	Abnormal eye physiology	57105	CYSLTR2	ORPHA:39044
HP:0012373	Abnormal eye physiology	2776	GNAQ	ORPHA:39044
HP:0012373	Abnormal eye physiology	2767	GNA11	ORPHA:39044
HP:0012373	Abnormal eye physiology	23451	SF3B1	ORPHA:39044
HP:0012373	Abnormal eye physiology	23137	SMC5	OMIM:620185
HP:0012373	Abnormal eye physiology	5309	PITX3	OMIM:107250
HP:0012373	Abnormal eye physiology	7837	PXDN	OMIM:269400
HP:0012373	Abnormal eye physiology	7010	TEK	OMIM:617272
HP:0012373	Abnormal eye physiology	170691	ADAMTS17	OMIM:613195
HP:0012373	Abnormal eye physiology	80781	COL18A1	OMIM:618880
HP:0012373	Abnormal eye physiology	113189	CHST14	ORPHA:2953
HP:0012373	Abnormal eye physiology	29940	DSE	ORPHA:2953
HP:0012373	Abnormal eye physiology	2335	FN1	ORPHA:93315
HP:0012373	Abnormal eye physiology	4010	LMX1B	ORPHA:2614
HP:0012373	Abnormal eye physiology	646960	PRSS56	OMIM:613517
HP:0012373	Abnormal eye physiology	136371	ASB10	OMIM:603383
HP:0012373	Abnormal eye physiology	4774	NFIA	ORPHA:401986
HP:0012373	Abnormal eye physiology	30813	VSX1	OMIM:614195
HP:0012373	Abnormal eye physiology	30813	VSX1	ORPHA:98973
HP:0012373	Abnormal eye physiology	1545	CYP1B1	OMIM:231300
HP:0012373	Abnormal eye physiology	1545	CYP1B1	ORPHA:98977
HP:0012373	Abnormal eye physiology	169792	GLIS3	OMIM:610199
HP:0012373	Abnormal eye physiology	2301	FOXE3	OMIM:610256
HP:0012373	Abnormal eye physiology	23516	SLC39A14	OMIM:144755
HP:0012373	Abnormal eye physiology	4653	MYOC	ORPHA:98977
HP:0012373	Abnormal eye physiology	4053	LTBP2	OMIM:614819
HP:0012373	Abnormal eye physiology	58495	OVOL2	ORPHA:98973
HP:0012373	Abnormal eye physiology	79977	GRHL2	ORPHA:98973
HP:0012373	Abnormal eye physiology	3479	IGF1	ORPHA:73272
HP:0012373	Abnormal eye physiology	7045	TGFBI	ORPHA:98960
HP:0012373	Abnormal eye physiology	7045	TGFBI	ORPHA:98964
HP:0012373	Abnormal eye physiology	79152	FA2H	ORPHA:329308
HP:0012373	Abnormal eye physiology	84839	RAX2	OMIM:610381
HP:0012373	Abnormal eye physiology	94137	RP1L1	OMIM:613587
HP:0012373	Abnormal eye physiology	9927	MFN2	OMIM:601152
HP:0012373	Abnormal eye physiology	84277	DNAJC30	ORPHA:104
HP:0012373	Abnormal eye physiology	4538	MT-ND4	ORPHA:104
HP:0012373	Abnormal eye physiology	4508	MT-ATP6	ORPHA:104
HP:0012373	Abnormal eye physiology	4539	MT-ND4L	ORPHA:104
HP:0012373	Abnormal eye physiology	3000	GUCY2D	ORPHA:75377
HP:0012373	Abnormal eye physiology	2978	GUCA1A	ORPHA:75377
HP:0012373	Abnormal eye physiology	1499	CTNNB1	ORPHA:54595
HP:0012373	Abnormal eye physiology	49855	SCAPER	OMIM:618195
HP:0012373	Abnormal eye physiology	2581	GALC	OMIM:245200
HP:0012373	Abnormal eye physiology	401	PHOX2A	OMIM:602078
HP:0012373	Abnormal eye physiology	55605	KIF21A	OMIM:135700
HP:0012373	Abnormal eye physiology	2652	OPN1MW	ORPHA:16
HP:0012373	Abnormal eye physiology	2652	OPN1MW	OMIM:303700
HP:0012373	Abnormal eye physiology	5956	OPN1LW	ORPHA:16
HP:0012373	Abnormal eye physiology	5956	OPN1LW	OMIM:303700
HP:0012373	Abnormal eye physiology	347733	TUBB2B	OMIM:610031
HP:0012373	Abnormal eye physiology	3295	HSD17B4	OMIM:233400
HP:0012373	Abnormal eye physiology	9997	SCO2	OMIM:604377
HP:0012373	Abnormal eye physiology	9997	SCO2	ORPHA:70474
HP:0012373	Abnormal eye physiology	8292	COLQ	ORPHA:98915
HP:0012373	Abnormal eye physiology	3913	LAMB2	ORPHA:98915
HP:0012373	Abnormal eye physiology	203547	VMA21	OMIM:310440
HP:0012373	Abnormal eye physiology	11261	CHP1	OMIM:618438
HP:0012373	Abnormal eye physiology	6843	VAMP1	OMIM:618323
HP:0012373	Abnormal eye physiology	127833	SYT2	OMIM:619461
HP:0012373	Abnormal eye physiology	4714	NDUFB8	ORPHA:70474
HP:0012373	Abnormal eye physiology	6834	SURF1	ORPHA:70474
HP:0012373	Abnormal eye physiology	339453	TMEM240	ORPHA:98773
HP:0012373	Abnormal eye physiology	51109	RDH11	ORPHA:436245
HP:0012373	Abnormal eye physiology	25782	RAB3GAP2	OMIM:614225
HP:0012373	Abnormal eye physiology	4724	NDUFS4	OMIM:252010
HP:0012373	Abnormal eye physiology	1340	COX6B1	OMIM:619051
HP:0012373	Abnormal eye physiology	5631	PRPS1	ORPHA:423479
HP:0012373	Abnormal eye physiology	57107	PDSS2	ORPHA:255249
HP:0012373	Abnormal eye physiology	27235	COQ2	ORPHA:255249
HP:0012373	Abnormal eye physiology	478	ATP1A3	OMIM:601338
HP:0012373	Abnormal eye physiology	9326	ZNHIT3	OMIM:260565
HP:0012373	Abnormal eye physiology	9526	MPDU1	ORPHA:79323
HP:0012373	Abnormal eye physiology	28962	OSTM1	OMIM:259720
HP:0012373	Abnormal eye physiology	1763	DNA2	ORPHA:352470
HP:0012373	Abnormal eye physiology	79184	BRCC3	ORPHA:280679
HP:0012373	Abnormal eye physiology	7204	TRIO	ORPHA:476126
HP:0012373	Abnormal eye physiology	5934	RBL2	OMIM:619690
HP:0012373	Abnormal eye physiology	2643	GCH1	OMIM:128230
HP:0012373	Abnormal eye physiology	6658	SOX3	ORPHA:67045
HP:0012373	Abnormal eye physiology	146227	BEAN1	OMIM:117210
HP:0012373	Abnormal eye physiology	131669	UROC1	ORPHA:210128
HP:0012373	Abnormal eye physiology	5081	PAX7	OMIM:618578
HP:0012373	Abnormal eye physiology	2911	GRM1	OMIM:614831
HP:0012373	Abnormal eye physiology	2911	GRM1	ORPHA:324262
HP:0012373	Abnormal eye physiology	3423	IDS	ORPHA:217085
HP:0012373	Abnormal eye physiology	3423	IDS	ORPHA:217093
HP:0012373	Abnormal eye physiology	6533	SLC6A6	OMIM:145350
HP:0012373	Abnormal eye physiology	100151683	RNU4ATAC	OMIM:226960
HP:0012373	Abnormal eye physiology	79628	SH3TC2	ORPHA:99949
HP:0012373	Abnormal eye physiology	8518	ELP1	OMIM:223900
HP:0012373	Abnormal eye physiology	4914	NTRK1	ORPHA:642
HP:0012373	Abnormal eye physiology	54463	RETREG1	OMIM:201300
HP:0012373	Abnormal eye physiology	65125	WNK1	OMIM:201300
HP:0012373	Abnormal eye physiology	440138	ALG11	ORPHA:280071
HP:0012373	Abnormal eye physiology	92949	ADAMTSL1	ORPHA:521445
HP:0012373	Abnormal eye physiology	5295	PIK3R1	OMIM:269880
HP:0012373	Abnormal eye physiology	220	ALDH1A3	ORPHA:35612
HP:0012373	Abnormal eye physiology	30062	RAX	ORPHA:35612
HP:0012373	Abnormal eye physiology	6023	RMRP	ORPHA:175
HP:0012373	Abnormal eye physiology	81857	MED25	ORPHA:464738
HP:0012373	Abnormal eye physiology	81857	MED25	OMIM:616449
HP:0012373	Abnormal eye physiology	2248	FGF3	ORPHA:90024
HP:0012373	Abnormal eye physiology	9333	TGM5	ORPHA:263534
HP:0012373	Abnormal eye physiology	1475	CSTA	ORPHA:263534
HP:0012373	Abnormal eye physiology	7750	ZMYM2	OMIM:619522
HP:0012373	Abnormal eye physiology	10743	RAI1	ORPHA:1713
HP:0012373	Abnormal eye physiology	4089	SMAD4	ORPHA:2588
HP:0012373	Abnormal eye physiology	170302	ARX	OMIM:300215
HP:0012373	Abnormal eye physiology	57007	ACKR3	OMIM:619215
HP:0012373	Abnormal eye physiology	92002	CCNQ	OMIM:300707
HP:0012373	Abnormal eye physiology	10054	UBA2	OMIM:619959
HP:0012373	Abnormal eye physiology	9969	MED13	OMIM:618009
HP:0012373	Abnormal eye physiology	63895	PIEZO2	OMIM:108145
HP:0012373	Abnormal eye physiology	79848	CSPP1	ORPHA:397715
HP:0012373	Abnormal eye physiology	9786	KIAA0586	ORPHA:397715
HP:0012373	Abnormal eye physiology	6299	SALL1	OMIM:107480
HP:0012373	Abnormal eye physiology	4330	MN1	OMIM:618774
HP:0012373	Abnormal eye physiology	153241	CEP120	OMIM:617761
HP:0012373	Abnormal eye physiology	57178	ZMIZ1	OMIM:618659
HP:0012373	Abnormal eye physiology	26012	NSMF	OMIM:614838
HP:0012373	Abnormal eye physiology	4035	LRP1	OMIM:604093
HP:0012373	Abnormal eye physiology	3850	KRT3	OMIM:618767
HP:0012373	Abnormal eye physiology	3321	IGSF3	OMIM:149700
HP:0012373	Abnormal eye physiology	2196	FAT2	OMIM:617769
HP:0012373	Abnormal eye physiology	84189	SLITRK6	OMIM:221200
HP:0012373	Abnormal eye physiology	6134	RPL10	OMIM:300998
HP:0012373	Abnormal eye physiology	55610	VPS50	OMIM:619685
HP:0012373	Abnormal eye physiology	54453	RIN2	ORPHA:217335
HP:0012373	Abnormal eye physiology	54453	RIN2	OMIM:613075
HP:0012373	Abnormal eye physiology	79631	EFL1	OMIM:617941
HP:0012373	Abnormal eye physiology	90161	HS6ST2	OMIM:301025
HP:0012373	Abnormal eye physiology	8925	HERC1	ORPHA:457359
HP:0012373	Abnormal eye physiology	10265	IRX5	OMIM:611174
HP:0012373	Abnormal eye physiology	84146	ZNF644	OMIM:614167
HP:0012373	Abnormal eye physiology	1410	CRYAB	OMIM:613763
HP:0012373	Abnormal eye physiology	283375	SLC39A5	OMIM:615946
HP:0012373	Abnormal eye physiology	29894	CPSF1	OMIM:618827
HP:0012373	Abnormal eye physiology	51611	DPH5	OMIM:620070
HP:0012373	Abnormal eye physiology	407	ARR3	OMIM:301010
HP:0012373	Abnormal eye physiology	2683	B4GALT1	ORPHA:79332
HP:0012373	Abnormal eye physiology	2742	GLRA2	OMIM:301076
HP:0012373	Abnormal eye physiology	4629	MYH11	OMIM:619351
HP:0012373	Abnormal eye physiology	10398	MYL9	OMIM:619365
HP:0012373	Abnormal eye physiology	59	ACTA2	OMIM:613834
HP:0012373	Abnormal eye physiology	9839	ZEB2	ORPHA:261552
HP:0012373	Abnormal eye physiology	5903	RANBP2	ORPHA:88619
HP:0012373	Abnormal eye physiology	220202	ATOH7	OMIM:221900
HP:0012373	Abnormal eye physiology	611	OPN1SW	ORPHA:88629
HP:0012373	Abnormal eye physiology	5917	RARS1	OMIM:616140
HP:0012373	Abnormal eye physiology	5828	PEX2	OMIM:614866
HP:0012373	Abnormal eye physiology	9725	TMEM63A	OMIM:618688
HP:0012373	Abnormal eye physiology	23746	AIPL1	OMIM:604393
HP:0012373	Abnormal eye physiology	90167	FRMD7	OMIM:310700
HP:0012373	Abnormal eye physiology	1737	DLAT	OMIM:245348
HP:0012373	Abnormal eye physiology	23636	NUP62	OMIM:271930
HP:0012373	Abnormal eye physiology	79718	TBL1XR1	OMIM:602342
HP:0012373	Abnormal eye physiology	79718	TBL1XR1	ORPHA:487825
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280210
HP:0012373	Abnormal eye physiology	22978	NT5C2	ORPHA:320396
HP:0012373	Abnormal eye physiology	55714	TENM3	OMIM:615145
HP:0012373	Abnormal eye physiology	833	CARS1	OMIM:618891
HP:0012373	Abnormal eye physiology	6392	SDHD	OMIM:619167
HP:0012373	Abnormal eye physiology	2670	GFAP	OMIM:203450
HP:0012373	Abnormal eye physiology	3149	HMGB3	OMIM:300915
HP:0012373	Abnormal eye physiology	23268	DNMBP	OMIM:618415
HP:0012373	Abnormal eye physiology	57096	RPGRIP1	OMIM:613826
HP:0012373	Abnormal eye physiology	1406	CRX	OMIM:613829
HP:0012373	Abnormal eye physiology	79583	TMEM231	ORPHA:2752
HP:0012373	Abnormal eye physiology	112476	PRRT2	ORPHA:569
HP:0012373	Abnormal eye physiology	477	ATP1A2	ORPHA:569
HP:0012373	Abnormal eye physiology	8218	CLTCL1	ORPHA:453510
HP:0012373	Abnormal eye physiology	26160	IFT172	OMIM:619471
HP:0012373	Abnormal eye physiology	84131	CEP78	OMIM:617236
HP:0012373	Abnormal eye physiology	10002	NR2E3	OMIM:268100
HP:0012373	Abnormal eye physiology	7287	TULP1	OMIM:613843
HP:0012373	Abnormal eye physiology	6314	ATXN7	ORPHA:94147
HP:0012373	Abnormal eye physiology	9692	PRORP	OMIM:619737
HP:0012373	Abnormal eye physiology	5376	PMP22	ORPHA:90658
HP:0012373	Abnormal eye physiology	4359	MPZ	OMIM:118200
HP:0012373	Abnormal eye physiology	10133	OPTN	OMIM:137760
HP:0012373	Abnormal eye physiology	4909	NTF4	OMIM:613100
HP:0012373	Abnormal eye physiology	134430	WDR36	OMIM:609887
HP:0012373	Abnormal eye physiology	8517	IKBKG	OMIM:301081
HP:0012373	Abnormal eye physiology	144811	LACC1	ORPHA:85414
HP:0012373	Abnormal eye physiology	4282	MIF	ORPHA:85414
HP:0012373	Abnormal eye physiology	3569	IL6	ORPHA:85414
HP:0012373	Abnormal eye physiology	7128	TNFAIP3	OMIM:616744
HP:0012373	Abnormal eye physiology	330	BIRC3	ORPHA:52417
HP:0012373	Abnormal eye physiology	10892	MALT1	ORPHA:52417
HP:0012373	Abnormal eye physiology	27086	FOXP1	ORPHA:52417
HP:0012373	Abnormal eye physiology	3492	IGH	ORPHA:52417
HP:0012373	Abnormal eye physiology	8915	BCL10	ORPHA:52417
HP:0012373	Abnormal eye physiology	4166	CHST6	ORPHA:98969
HP:0012373	Abnormal eye physiology	2263	FGFR2	ORPHA:2363
HP:0012373	Abnormal eye physiology	2261	FGFR3	ORPHA:2363
HP:0012373	Abnormal eye physiology	2255	FGF10	ORPHA:2363
HP:0012373	Abnormal eye physiology	57167	SALL4	ORPHA:233
HP:0012373	Abnormal eye physiology	9935	MAFB	ORPHA:233
HP:0012373	Abnormal eye physiology	1123	CHN1	ORPHA:233
HP:0012373	Abnormal eye physiology	59341	TRPV4	OMIM:606071
HP:0012373	Abnormal eye physiology	2475	MTOR	ORPHA:99802
HP:0012373	Abnormal eye physiology	10000	AKT3	ORPHA:99802
HP:0012373	Abnormal eye physiology	54658	UGT1A1	ORPHA:79234
HP:0012373	Abnormal eye physiology	389827	MYMK	OMIM:254940
HP:0012373	Abnormal eye physiology	55901	THSD1	ORPHA:231160
HP:0012373	Abnormal eye physiology	7049	TGFBR3	ORPHA:231160
HP:0012373	Abnormal eye physiology	1281	COL3A1	ORPHA:231160
HP:0012373	Abnormal eye physiology	83854	ANGPTL6	ORPHA:231160
HP:0012373	Abnormal eye physiology	2022	ENG	ORPHA:231160
HP:0012373	Abnormal eye physiology	3949	LDLR	ORPHA:391665
HP:0012373	Abnormal eye physiology	255738	PCSK9	ORPHA:391665
HP:0012373	Abnormal eye physiology	26119	LDLRAP1	ORPHA:391665
HP:0012373	Abnormal eye physiology	338	APOB	ORPHA:391665
HP:0012373	Abnormal eye physiology	64240	ABCG5	ORPHA:391665
HP:0012373	Abnormal eye physiology	64241	ABCG8	ORPHA:391665
HP:0012373	Abnormal eye physiology	10083	USH1C	ORPHA:231169
HP:0012373	Abnormal eye physiology	124590	USH1G	ORPHA:231169
HP:0012373	Abnormal eye physiology	83715	ESPN	ORPHA:231169
HP:0012373	Abnormal eye physiology	10518	CIB2	ORPHA:231169
HP:0012373	Abnormal eye physiology	4647	MYO7A	ORPHA:231169
HP:0012373	Abnormal eye physiology	4647	MYO7A	ORPHA:231178
HP:0012373	Abnormal eye physiology	65217	PCDH15	ORPHA:231169
HP:0012373	Abnormal eye physiology	7399	USH2A	ORPHA:231178
HP:0012373	Abnormal eye physiology	79955	PDZD7	ORPHA:231178
HP:0012373	Abnormal eye physiology	25861	WHRN	ORPHA:231178
HP:0012373	Abnormal eye physiology	84059	ADGRV1	ORPHA:231178
HP:0012373	Abnormal eye physiology	11277	TREX1	ORPHA:247691
HP:0012373	Abnormal eye physiology	16	AARS1	OMIM:619661
HP:0012373	Abnormal eye physiology	83550	GPR101	OMIM:300942
HP:0012373	Abnormal eye physiology	3035	HARS1	ORPHA:231183
HP:0012373	Abnormal eye physiology	51241	COX16	OMIM:619355
HP:0012373	Abnormal eye physiology	5167	ENPP1	ORPHA:758
HP:0012373	Abnormal eye physiology	2903	GRIN2A	ORPHA:289266
HP:0012373	Abnormal eye physiology	54517	PUS7	OMIM:618342
HP:0012373	Abnormal eye physiology	5058	PAK1	OMIM:618158
HP:0012373	Abnormal eye physiology	55367	PIDD1	OMIM:619827
HP:0012373	Abnormal eye physiology	9382	COG1	OMIM:611209
HP:0012373	Abnormal eye physiology	51116	MRPS2	OMIM:617950
HP:0012373	Abnormal eye physiology	6857	SYT1	ORPHA:522077
HP:0012373	Abnormal eye physiology	23116	TOGARAM1	OMIM:619185
HP:0012373	Abnormal eye physiology	80232	WDR26	OMIM:617616
HP:0012373	Abnormal eye physiology	80232	WDR26	ORPHA:513456
HP:0012373	Abnormal eye physiology	23545	ATP6V0A2	ORPHA:357074
HP:0012373	Abnormal eye physiology	523	ATP6V1A	ORPHA:357074
HP:0012373	Abnormal eye physiology	529	ATP6V1E1	ORPHA:357074
HP:0012373	Abnormal eye physiology	6899	TBX1	OMIM:188400
HP:0012373	Abnormal eye physiology	51102	MECR	OMIM:617282
HP:0012373	Abnormal eye physiology	51102	MECR	ORPHA:508093
HP:0012373	Abnormal eye physiology	6334	SCN8A	OMIM:614306
HP:0012373	Abnormal eye physiology	3211	HOXB1	OMIM:614744
HP:0012373	Abnormal eye physiology	57498	KIDINS220	ORPHA:521390
HP:0012373	Abnormal eye physiology	2702	GJA5	OMIM:612474
HP:0012373	Abnormal eye physiology	2703	GJA8	OMIM:612474
HP:0012373	Abnormal eye physiology	27125	AFF4	ORPHA:444077
HP:0012373	Abnormal eye physiology	57531	HACE1	ORPHA:464282
HP:0012373	Abnormal eye physiology	60684	TRAPPC11	ORPHA:369840
HP:0012373	Abnormal eye physiology	2512	FTL	ORPHA:157846
HP:0012373	Abnormal eye physiology	91754	NEK9	OMIM:614262
HP:0012373	Abnormal eye physiology	23287	AGTPBP1	OMIM:618276
HP:0012373	Abnormal eye physiology	10157	AASS	ORPHA:2203
HP:0012373	Abnormal eye physiology	23230	VPS13A	ORPHA:2388
HP:0012373	Abnormal eye physiology	3748	KCNC3	ORPHA:98768
HP:0012373	Abnormal eye physiology	23400	ATP13A2	ORPHA:314632
HP:0012373	Abnormal eye physiology	343450	KCNT2	OMIM:617771
HP:0012373	Abnormal eye physiology	25953	PNKD	ORPHA:98810
HP:0012373	Abnormal eye physiology	25930	PTPN23	OMIM:618890
HP:0012373	Abnormal eye physiology	55704	CCDC88A	OMIM:617507
HP:0012373	Abnormal eye physiology	1302	COL11A2	ORPHA:1427
HP:0012373	Abnormal eye physiology	23126	POGZ	OMIM:616364
HP:0012373	Abnormal eye physiology	348	APOE	OMIM:603075
HP:0012373	Abnormal eye physiology	83872	HMCN1	OMIM:603075
HP:0012373	Abnormal eye physiology	3078	CFHR1	OMIM:603075
HP:0012373	Abnormal eye physiology	10878	CFHR3	OMIM:603075
HP:0012373	Abnormal eye physiology	4617	MYF5	OMIM:618155
HP:0012373	Abnormal eye physiology	6297	SALL2	OMIM:216820
HP:0012373	Abnormal eye physiology	51506	UFC1	OMIM:618076
HP:0012373	Abnormal eye physiology	2200	FBN1	OMIM:154700
HP:0012373	Abnormal eye physiology	1131	CHRM3	OMIM:100100
HP:0012373	Abnormal eye physiology	1136	CHRNA3	OMIM:191800
HP:0012373	Abnormal eye physiology	8787	RGS9	OMIM:608415
HP:0012373	Abnormal eye physiology	773	CACNA1A	ORPHA:98758
HP:0012373	Abnormal eye physiology	4041	LRP5	ORPHA:2788
HP:0012373	Abnormal eye physiology	10059	DNM1L	ORPHA:98673
HP:0012373	Abnormal eye physiology	4976	OPA1	ORPHA:98673
HP:0012373	Abnormal eye physiology	5879	RAC1	ORPHA:500159
HP:0012373	Abnormal eye physiology	50939	IMPG2	OMIM:616152
HP:0012373	Abnormal eye physiology	3617	IMPG1	OMIM:616151
HP:0012373	Abnormal eye physiology	23600	AMACR	ORPHA:79095
HP:0012373	Abnormal eye physiology	64072	CDH23	ORPHA:91347
HP:0012373	Abnormal eye physiology	64072	CDH23	ORPHA:2965
HP:0012373	Abnormal eye physiology	4221	MEN1	ORPHA:2965
HP:0012373	Abnormal eye physiology	9049	AIP	ORPHA:2965
HP:0012373	Abnormal eye physiology	2202	EFEMP1	ORPHA:75376
HP:0012373	Abnormal eye physiology	3075	CFH	ORPHA:75376
HP:0012373	Abnormal eye physiology	3426	CFI	ORPHA:75376
HP:0012373	Abnormal eye physiology	285440	CYP4V2	ORPHA:41751
HP:0012373	Abnormal eye physiology	285440	CYP4V2	OMIM:210370
HP:0012373	Abnormal eye physiology	80201	HKDC1	OMIM:619614
HP:0012373	Abnormal eye physiology	50	ACO2	OMIM:616289
HP:0012373	Abnormal eye physiology	138050	HGSNAT	OMIM:616544
HP:0012373	Abnormal eye physiology	51095	TRNT1	OMIM:616959
HP:0012373	Abnormal eye physiology	6102	RP2	OMIM:312600
HP:0012373	Abnormal eye physiology	28982	FLVCR1	OMIM:609033
HP:0012373	Abnormal eye physiology	22901	ARSG	OMIM:618144
HP:0012373	Abnormal eye physiology	5456	POU3F4	ORPHA:1435
HP:0012373	Abnormal eye physiology	5080	PAX6	ORPHA:137902
HP:0012373	Abnormal eye physiology	9785	DHX38	OMIM:618220
HP:0012373	Abnormal eye physiology	5959	RDH5	OMIM:136880
HP:0012373	Abnormal eye physiology	6017	RLBP1	OMIM:136880
HP:0012373	Abnormal eye physiology	84816	RTN4IP1	OMIM:616732
HP:0012373	Abnormal eye physiology	3105	HLA-A	ORPHA:179
HP:0012373	Abnormal eye physiology	7466	WFS1	OMIM:614296
HP:0012373	Abnormal eye physiology	23370	ARHGEF18	OMIM:617433
HP:0012373	Abnormal eye physiology	6935	ZEB1	ORPHA:98974
HP:0012373	Abnormal eye physiology	123624	AGBL1	ORPHA:98974
HP:0012373	Abnormal eye physiology	6925	TCF4	ORPHA:98974
HP:0012373	Abnormal eye physiology	83959	SLC4A11	ORPHA:98974
HP:0012373	Abnormal eye physiology	1296	COL8A2	ORPHA:98974
HP:0012373	Abnormal eye physiology	25790	CFAP45	OMIM:619608
HP:0012373	Abnormal eye physiology	444	ASPH	OMIM:601552
HP:0012373	Abnormal eye physiology	2316	FLNA	ORPHA:555877
HP:0012373	Abnormal eye physiology	8364	H4C3	OMIM:619758
HP:0012373	Abnormal eye physiology	1299	COL9A3	OMIM:620022
HP:0012373	Abnormal eye physiology	4308	TRPM1	ORPHA:215
HP:0012373	Abnormal eye physiology	57010	CABP4	ORPHA:215
HP:0012373	Abnormal eye physiology	345193	LRIT3	ORPHA:215
HP:0012373	Abnormal eye physiology	93589	CACNA2D4	ORPHA:215
HP:0012373	Abnormal eye physiology	2916	GRM6	ORPHA:215
HP:0012373	Abnormal eye physiology	5158	PDE6B	ORPHA:215
HP:0012373	Abnormal eye physiology	440435	GPR179	ORPHA:215
HP:0012373	Abnormal eye physiology	6011	GRK1	ORPHA:215
HP:0012373	Abnormal eye physiology	778	CACNA1F	ORPHA:215
HP:0012373	Abnormal eye physiology	6010	RHO	ORPHA:215
HP:0012373	Abnormal eye physiology	9187	SLC24A1	ORPHA:215
HP:0012373	Abnormal eye physiology	6295	SAG	ORPHA:215
HP:0012373	Abnormal eye physiology	2784	GNB3	ORPHA:215
HP:0012373	Abnormal eye physiology	2779	GNAT1	ORPHA:215
HP:0012373	Abnormal eye physiology	60506	NYX	ORPHA:215
HP:0012373	Abnormal eye physiology	23291	FBXW11	OMIM:618914
HP:0012373	Abnormal eye physiology	8367	H4C5	OMIM:619950
HP:0012373	Abnormal eye physiology	2590	GALNT2	OMIM:618885
HP:0012373	Abnormal eye physiology	224	ALDH3A2	OMIM:270200
HP:0012373	Abnormal eye physiology	23345	SYNE1	ORPHA:319332
HP:0012373	Abnormal eye physiology	388552	BLOC1S3	OMIM:614077
HP:0012373	Abnormal eye physiology	9968	MED12	OMIM:301068
HP:0012373	Abnormal eye physiology	8398	PLA2G6	OMIM:612953
HP:0012373	Abnormal eye physiology	6531	SLC6A3	OMIM:613135
HP:0012373	Abnormal eye physiology	4841	NONO	ORPHA:466791
HP:0012373	Abnormal eye physiology	7390	UROS	ORPHA:79277
HP:0012373	Abnormal eye physiology	2623	GATA1	ORPHA:79277
HP:0012373	Abnormal eye physiology	7389	UROD	ORPHA:95159
HP:0012373	Abnormal eye physiology	3593	IL12B	ORPHA:3287
HP:0012373	Abnormal eye physiology	6945	MLX	ORPHA:3287
HP:0012373	Abnormal eye physiology	1493	CTLA4	ORPHA:900
HP:0012373	Abnormal eye physiology	3115	HLA-DPB1	ORPHA:900
HP:0012373	Abnormal eye physiology	5657	PRTN3	ORPHA:900
HP:0012373	Abnormal eye physiology	3113	HLA-DPA1	ORPHA:900
HP:0012373	Abnormal eye physiology	1536	CYBB	ORPHA:379
HP:0012373	Abnormal eye physiology	4688	NCF2	ORPHA:379
HP:0012373	Abnormal eye physiology	1535	CYBA	ORPHA:379
HP:0012373	Abnormal eye physiology	4689	NCF4	ORPHA:379
HP:0012373	Abnormal eye physiology	79415	CYBC1	ORPHA:379
HP:0012373	Abnormal eye physiology	55315	SLC29A3	OMIM:602782
HP:0012373	Abnormal eye physiology	114548	NLRP3	ORPHA:575
HP:0012373	Abnormal eye physiology	5696	PSMB8	OMIM:256040
HP:0012373	Abnormal eye physiology	1776	DNASE1L3	ORPHA:36412
HP:0012373	Abnormal eye physiology	151	ADRA2B	ORPHA:86814
HP:0012373	Abnormal eye physiology	55689	YEATS2	ORPHA:86814
HP:0012373	Abnormal eye physiology	1501	CTNND2	ORPHA:86814
HP:0012373	Abnormal eye physiology	10299	MARCHF6	ORPHA:86814
HP:0012373	Abnormal eye physiology	6900	CNTN2	ORPHA:86814
HP:0012373	Abnormal eye physiology	401474	SAMD12	ORPHA:86814
HP:0012373	Abnormal eye physiology	10019	SH2B3	ORPHA:3318
HP:0012373	Abnormal eye physiology	811	CALR	ORPHA:3318
HP:0012373	Abnormal eye physiology	54790	TET2	ORPHA:3318
HP:0012373	Abnormal eye physiology	6323	SCN1A	OMIM:607208
HP:0012373	Abnormal eye physiology	291	SLC25A4	ORPHA:254892
HP:0012373	Abnormal eye physiology	56652	TWNK	ORPHA:254892
HP:0012373	Abnormal eye physiology	11232	POLG2	ORPHA:254892
HP:0012373	Abnormal eye physiology	11232	POLG2	OMIM:610131
HP:0012373	Abnormal eye physiology	50484	RRM2B	ORPHA:254892
HP:0012373	Abnormal eye physiology	23394	ADNP	ORPHA:404448
HP:0012373	Abnormal eye physiology	10466	COG5	ORPHA:263487
HP:0012373	Abnormal eye physiology	104	ADARB1	OMIM:618862
HP:0012373	Abnormal eye physiology	1183	CLCN4	OMIM:300114
HP:0012373	Abnormal eye physiology	1183	CLCN4	ORPHA:485350
HP:0012373	Abnormal eye physiology	776	CACNA1D	OMIM:615474
HP:0012373	Abnormal eye physiology	776	CACNA1D	ORPHA:369929
HP:0012373	Abnormal eye physiology	55823	VPS11	OMIM:616683
HP:0012373	Abnormal eye physiology	55823	VPS11	ORPHA:466934
HP:0012373	Abnormal eye physiology	673	BRAF	OMIM:115150
HP:0012373	Abnormal eye physiology	65062	TMEM237	OMIM:614424
HP:0012373	Abnormal eye physiology	781	CACNA2D1	OMIM:620149
HP:0012373	Abnormal eye physiology	85358	SHANK3	OMIM:606232
HP:0012373	Abnormal eye physiology	6328	SCN3A	OMIM:617938
HP:0012373	Abnormal eye physiology	1119	CHKA	OMIM:620023
HP:0012373	Abnormal eye physiology	132158	GLYCTK	ORPHA:941
HP:0012373	Abnormal eye physiology	10093	ARPC4	OMIM:620141
HP:0012373	Abnormal eye physiology	128869	PIGU	OMIM:618590
HP:0012373	Abnormal eye physiology	51112	TRAPPC12	ORPHA:500144
HP:0012373	Abnormal eye physiology	51112	TRAPPC12	OMIM:617669
HP:0012373	Abnormal eye physiology	387119	CEP85L	OMIM:618873
HP:0012373	Abnormal eye physiology	387119	CEP85L	ORPHA:572013
HP:0012373	Abnormal eye physiology	3020	H3-3A	OMIM:619720
HP:0012373	Abnormal eye physiology	6651	SON	OMIM:617140
HP:0012373	Abnormal eye physiology	6651	SON	ORPHA:500150
HP:0012373	Abnormal eye physiology	57520	HECW2	OMIM:617268
HP:0012373	Abnormal eye physiology	396	ARHGDIA	OMIM:615244
HP:0012373	Abnormal eye physiology	2782	GNB1	ORPHA:488613
HP:0012373	Abnormal eye physiology	2782	GNB1	OMIM:616973
HP:0012373	Abnormal eye physiology	27245	AHDC1	ORPHA:412069
HP:0012373	Abnormal eye physiology	1841	DTYMK	OMIM:619847
HP:0012373	Abnormal eye physiology	79639	TMEM53	OMIM:619727
HP:0012373	Abnormal eye physiology	166378	AFG2A	OMIM:616577
HP:0012373	Abnormal eye physiology	80055	PGAP1	OMIM:615802
HP:0012373	Abnormal eye physiology	2561	GABRB2	OMIM:617829
HP:0012373	Abnormal eye physiology	10978	CLP1	OMIM:615803
HP:0012373	Abnormal eye physiology	271	AMPD2	OMIM:615809
HP:0012373	Abnormal eye physiology	23499	MACF1	ORPHA:572013
HP:0012373	Abnormal eye physiology	23499	MACF1	OMIM:618325
HP:0012373	Abnormal eye physiology	8869	ST3GAL5	OMIM:609056
HP:0012373	Abnormal eye physiology	1185	CLCN6	OMIM:619173
HP:0012373	Abnormal eye physiology	4512	MT-CO1	OMIM:540000
HP:0012373	Abnormal eye physiology	4513	MT-CO2	OMIM:540000
HP:0012373	Abnormal eye physiology	4514	MT-CO3	OMIM:540000
HP:0012373	Abnormal eye physiology	4519	MT-CYB	OMIM:540000
HP:0012373	Abnormal eye physiology	4511	MT-TC	OMIM:540000
HP:0012373	Abnormal eye physiology	4574	MT-TS1	OMIM:540000
HP:0012373	Abnormal eye physiology	4575	MT-TS2	OMIM:540000
HP:0012373	Abnormal eye physiology	4558	MT-TF	OMIM:540000
HP:0012373	Abnormal eye physiology	4541	MT-ND6	OMIM:540000
HP:0012373	Abnormal eye physiology	4567	MT-TL1	OMIM:540000
HP:0012373	Abnormal eye physiology	4540	MT-ND5	OMIM:540000
HP:0012373	Abnormal eye physiology	4566	MT-TK	OMIM:540000
HP:0012373	Abnormal eye physiology	4572	MT-TQ	OMIM:540000
HP:0012373	Abnormal eye physiology	4577	MT-TV	OMIM:540000
HP:0012373	Abnormal eye physiology	4578	MT-TW	OMIM:540000
HP:0012373	Abnormal eye physiology	473	RERE	ORPHA:494344
HP:0012373	Abnormal eye physiology	4001	LMNB1	OMIM:619179
HP:0012373	Abnormal eye physiology	2560	GABRB1	OMIM:617153
HP:0012373	Abnormal eye physiology	10588	MTHFS	OMIM:618367
HP:0012373	Abnormal eye physiology	100131801	PET100	OMIM:619055
HP:0012373	Abnormal eye physiology	3899	AFF3	OMIM:619297
HP:0012373	Abnormal eye physiology	6844	VAMP2	OMIM:618760
HP:0012373	Abnormal eye physiology	5119	CHMP1A	OMIM:614961
HP:0012373	Abnormal eye physiology	79029	AFG2B	OMIM:619616
HP:0012373	Abnormal eye physiology	5530	PPP3CA	OMIM:617711
HP:0012373	Abnormal eye physiology	7994	KAT6A	ORPHA:457193
HP:0012373	Abnormal eye physiology	7994	KAT6A	OMIM:616268
HP:0012373	Abnormal eye physiology	80746	TSEN2	OMIM:612389
HP:0012373	Abnormal eye physiology	80746	TSEN2	ORPHA:2524
HP:0012373	Abnormal eye physiology	93627	TBCK	OMIM:616900
HP:0012373	Abnormal eye physiology	29920	PYCR2	ORPHA:481152
HP:0012373	Abnormal eye physiology	2917	GRM7	OMIM:618922
HP:0012373	Abnormal eye physiology	85465	SELENOI	OMIM:618768
HP:0012373	Abnormal eye physiology	128989	TANGO2	ORPHA:480864
HP:0012373	Abnormal eye physiology	6821	SUOX	OMIM:272300
HP:0012373	Abnormal eye physiology	1678	TIMM8A	OMIM:304700
HP:0012373	Abnormal eye physiology	1678	TIMM8A	ORPHA:52368
HP:0012373	Abnormal eye physiology	2898	GRIK2	OMIM:619580
HP:0012373	Abnormal eye physiology	10087	CERT1	OMIM:616351
HP:0012373	Abnormal eye physiology	774	CACNA1B	OMIM:618497
HP:0012373	Abnormal eye physiology	11342	RNF13	OMIM:618379
HP:0012373	Abnormal eye physiology	11342	RNF13	ORPHA:544503
HP:0012373	Abnormal eye physiology	2906	GRIN2D	OMIM:617162
HP:0012373	Abnormal eye physiology	54681	P4HTM	OMIM:618493
HP:0012373	Abnormal eye physiology	5277	PIGA	OMIM:300868
HP:0012373	Abnormal eye physiology	5277	PIGA	OMIM:301072
HP:0012373	Abnormal eye physiology	23327	NEDD4L	OMIM:617201
HP:0012373	Abnormal eye physiology	4761	NEUROD2	OMIM:618374
HP:0012373	Abnormal eye physiology	2257	FGF12	OMIM:617166
HP:0012373	Abnormal eye physiology	23065	EMC1	OMIM:616875
HP:0012373	Abnormal eye physiology	23065	EMC1	ORPHA:480898
HP:0012373	Abnormal eye physiology	1729	DIAPH1	OMIM:616632
HP:0012373	Abnormal eye physiology	28514	DLL1	ORPHA:93926
HP:0012373	Abnormal eye physiology	28514	DLL1	ORPHA:93924
HP:0012373	Abnormal eye physiology	28514	DLL1	ORPHA:93925
HP:0012373	Abnormal eye physiology	28514	DLL1	ORPHA:220386
HP:0012373	Abnormal eye physiology	2253	FGF8	ORPHA:93926
HP:0012373	Abnormal eye physiology	2253	FGF8	ORPHA:93924
HP:0012373	Abnormal eye physiology	2253	FGF8	ORPHA:93925
HP:0012373	Abnormal eye physiology	2253	FGF8	ORPHA:220386
HP:0012373	Abnormal eye physiology	6496	SIX3	ORPHA:93926
HP:0012373	Abnormal eye physiology	6496	SIX3	ORPHA:93924
HP:0012373	Abnormal eye physiology	6496	SIX3	ORPHA:93925
HP:0012373	Abnormal eye physiology	6496	SIX3	ORPHA:220386
HP:0012373	Abnormal eye physiology	7050	TGIF1	ORPHA:93926
HP:0012373	Abnormal eye physiology	7050	TGIF1	ORPHA:93924
HP:0012373	Abnormal eye physiology	7050	TGIF1	ORPHA:93925
HP:0012373	Abnormal eye physiology	7050	TGIF1	ORPHA:220386
HP:0012373	Abnormal eye physiology	4838	NODAL	ORPHA:93926
HP:0012373	Abnormal eye physiology	4838	NODAL	ORPHA:93924
HP:0012373	Abnormal eye physiology	4838	NODAL	ORPHA:93925
HP:0012373	Abnormal eye physiology	4838	NODAL	ORPHA:220386
HP:0012373	Abnormal eye physiology	6469	SHH	ORPHA:93926
HP:0012373	Abnormal eye physiology	6469	SHH	ORPHA:93924
HP:0012373	Abnormal eye physiology	6469	SHH	ORPHA:93925
HP:0012373	Abnormal eye physiology	6469	SHH	ORPHA:220386
HP:0012373	Abnormal eye physiology	7546	ZIC2	ORPHA:93926
HP:0012373	Abnormal eye physiology	7546	ZIC2	ORPHA:93924
HP:0012373	Abnormal eye physiology	7546	ZIC2	ORPHA:93925
HP:0012373	Abnormal eye physiology	7546	ZIC2	ORPHA:220386
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93926
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93924
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93925
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:220386
HP:0012373	Abnormal eye physiology	2619	GAS1	ORPHA:93926
HP:0012373	Abnormal eye physiology	2619	GAS1	ORPHA:93924
HP:0012373	Abnormal eye physiology	2619	GAS1	ORPHA:93925
HP:0012373	Abnormal eye physiology	2619	GAS1	ORPHA:220386
HP:0012373	Abnormal eye physiology	84976	DISP1	ORPHA:93926
HP:0012373	Abnormal eye physiology	84976	DISP1	ORPHA:93924
HP:0012373	Abnormal eye physiology	84976	DISP1	ORPHA:93925
HP:0012373	Abnormal eye physiology	84976	DISP1	ORPHA:220386
HP:0012373	Abnormal eye physiology	2736	GLI2	ORPHA:93926
HP:0012373	Abnormal eye physiology	2736	GLI2	ORPHA:93924
HP:0012373	Abnormal eye physiology	2736	GLI2	ORPHA:93925
HP:0012373	Abnormal eye physiology	2736	GLI2	ORPHA:220386
HP:0012373	Abnormal eye physiology	8928	FOXH1	ORPHA:93926
HP:0012373	Abnormal eye physiology	8928	FOXH1	ORPHA:93924
HP:0012373	Abnormal eye physiology	8928	FOXH1	ORPHA:93925
HP:0012373	Abnormal eye physiology	8928	FOXH1	ORPHA:220386
HP:0012373	Abnormal eye physiology	5727	PTCH1	ORPHA:93926
HP:0012373	Abnormal eye physiology	5727	PTCH1	ORPHA:93924
HP:0012373	Abnormal eye physiology	5727	PTCH1	ORPHA:93925
HP:0012373	Abnormal eye physiology	5727	PTCH1	ORPHA:220386
HP:0012373	Abnormal eye physiology	50937	CDON	ORPHA:93926
HP:0012373	Abnormal eye physiology	50937	CDON	ORPHA:93924
HP:0012373	Abnormal eye physiology	50937	CDON	ORPHA:93925
HP:0012373	Abnormal eye physiology	50937	CDON	ORPHA:220386
HP:0012373	Abnormal eye physiology	2260	FGFR1	ORPHA:93924
HP:0012373	Abnormal eye physiology	2260	FGFR1	ORPHA:220386
HP:0012373	Abnormal eye physiology	23007	PLCH1	ORPHA:93925
HP:0012373	Abnormal eye physiology	10735	STAG2	ORPHA:93925
HP:0012373	Abnormal eye physiology	10735	STAG2	ORPHA:220386
HP:0012373	Abnormal eye physiology	79731	NARS2	OMIM:616239
HP:0012373	Abnormal eye physiology	26227	PHGDH	ORPHA:79351
HP:0012373	Abnormal eye physiology	6638	SNRPN	ORPHA:177907
HP:0012373	Abnormal eye physiology	7025	NR2F1	ORPHA:401777
HP:0012373	Abnormal eye physiology	7025	NR2F1	OMIM:615722
HP:0012373	Abnormal eye physiology	5518	PPP2R1A	OMIM:616362
HP:0012373	Abnormal eye physiology	5518	PPP2R1A	ORPHA:457284
HP:0012373	Abnormal eye physiology	84265	POLR3GL	OMIM:619234
HP:0012373	Abnormal eye physiology	57003	CCDC47	OMIM:618268
HP:0012373	Abnormal eye physiology	51604	PIGT	OMIM:615398
HP:0012373	Abnormal eye physiology	51604	PIGT	ORPHA:369837
HP:0012373	Abnormal eye physiology	57545	CC2D2A	OMIM:612285
HP:0012373	Abnormal eye physiology	94005	PIGS	OMIM:618143
HP:0012373	Abnormal eye physiology	22931	RAB18	OMIM:614222
HP:0012373	Abnormal eye physiology	22931	RAB18	ORPHA:2510
HP:0012373	Abnormal eye physiology	9894	TELO2	ORPHA:488642
HP:0012373	Abnormal eye physiology	9894	TELO2	OMIM:616954
HP:0012373	Abnormal eye physiology	51692	CPSF3	OMIM:619876
HP:0012373	Abnormal eye physiology	3098	HK1	OMIM:618547
HP:0012373	Abnormal eye physiology	85440	DOCK7	ORPHA:411986
HP:0012373	Abnormal eye physiology	85440	DOCK7	OMIM:615859
HP:0012373	Abnormal eye physiology	9091	PIGQ	OMIM:618548
HP:0012373	Abnormal eye physiology	83475	DOHH	OMIM:620066
HP:0012373	Abnormal eye physiology	84992	PIGY	OMIM:616809
HP:0012373	Abnormal eye physiology	728294	D2HGDH	OMIM:600721
HP:0012373	Abnormal eye physiology	2222	FDFT1	OMIM:618156
HP:0012373	Abnormal eye physiology	90522	YIF1B	OMIM:619125
HP:0012373	Abnormal eye physiology	253959	RALGAPA1	OMIM:618797
HP:0012373	Abnormal eye physiology	283989	TSEN54	ORPHA:2524
HP:0012373	Abnormal eye physiology	116461	TSEN15	ORPHA:2524
HP:0012373	Abnormal eye physiology	79042	TSEN34	ORPHA:2524
HP:0012373	Abnormal eye physiology	51091	SEPSECS	ORPHA:2524
HP:0012373	Abnormal eye physiology	2555	GABRA2	OMIM:618557
HP:0012373	Abnormal eye physiology	25973	PARS2	OMIM:618437
HP:0012373	Abnormal eye physiology	8911	CACNA1I	OMIM:620114
HP:0012373	Abnormal eye physiology	60386	SLC25A19	OMIM:607196
HP:0012373	Abnormal eye physiology	8813	DPM1	OMIM:608799
HP:0012373	Abnormal eye physiology	8813	DPM1	ORPHA:79322
HP:0012373	Abnormal eye physiology	23162	MAPK8IP3	OMIM:618443
HP:0012373	Abnormal eye physiology	197258	FCSK	OMIM:618324
HP:0012373	Abnormal eye physiology	3798	KIF5A	OMIM:617235
HP:0012373	Abnormal eye physiology	440	ASNS	OMIM:615574
HP:0012373	Abnormal eye physiology	777	CACNA1E	OMIM:618285
HP:0012373	Abnormal eye physiology	4668	NAGA	OMIM:609241
HP:0012373	Abnormal eye physiology	4668	NAGA	ORPHA:79279
HP:0012373	Abnormal eye physiology	133686	NADK2	ORPHA:431361
HP:0012373	Abnormal eye physiology	133686	NADK2	OMIM:616034
HP:0012373	Abnormal eye physiology	738	VPS51	OMIM:618606
HP:0012373	Abnormal eye physiology	51227	PIGP	OMIM:617599
HP:0012373	Abnormal eye physiology	1107	CHD3	OMIM:618205
HP:0012373	Abnormal eye physiology	5718	PSMD12	OMIM:617516
HP:0012373	Abnormal eye physiology	9757	KMT2B	OMIM:619934
HP:0012373	Abnormal eye physiology	57731	SPTBN4	OMIM:617519
HP:0012373	Abnormal eye physiology	22930	RAB3GAP1	ORPHA:2510
HP:0012373	Abnormal eye physiology	128637	TBC1D20	ORPHA:2510
HP:0012373	Abnormal eye physiology	116150	NUS1	OMIM:617082
HP:0012373	Abnormal eye physiology	6576	SLC25A1	OMIM:615182
HP:0012373	Abnormal eye physiology	51693	TRAPPC2L	OMIM:618331
HP:0012373	Abnormal eye physiology	9276	COPB2	OMIM:617800
HP:0012373	Abnormal eye physiology	10844	TUBGCP2	OMIM:618737
HP:0012373	Abnormal eye physiology	547	KIF1A	OMIM:614255
HP:0012373	Abnormal eye physiology	221927	BRAT1	OMIM:614498
HP:0012373	Abnormal eye physiology	58497	PRUNE1	ORPHA:544469
HP:0012373	Abnormal eye physiology	55294	FBXW7	OMIM:620012
HP:0012373	Abnormal eye physiology	8322	FZD4	OMIM:133780
HP:0012373	Abnormal eye physiology	8322	FZD4	ORPHA:891
HP:0012373	Abnormal eye physiology	403	ARL3	OMIM:618173
HP:0012373	Abnormal eye physiology	4693	NDP	ORPHA:891
HP:0012373	Abnormal eye physiology	23554	TSPAN12	ORPHA:891
HP:0012373	Abnormal eye physiology	79797	ZNF408	ORPHA:891
HP:0012373	Abnormal eye physiology	7276	TTR	ORPHA:85447
HP:0012373	Abnormal eye physiology	153642	ARSK	OMIM:619698
HP:0012373	Abnormal eye physiology	55214	P3H2	OMIM:614292
HP:0012373	Abnormal eye physiology	5062	PAK2	OMIM:618458
HP:0012373	Abnormal eye physiology	6335	SCN9A	OMIM:167400
HP:0012373	Abnormal eye physiology	1308	COL17A1	ORPHA:293381
HP:0012373	Abnormal eye physiology	1308	COL17A1	OMIM:122400
HP:0012373	Abnormal eye physiology	1497	CTNS	ORPHA:411634
HP:0012373	Abnormal eye physiology	686	BTD	ORPHA:79241
HP:0012373	Abnormal eye physiology	7407	VARS1	OMIM:617802
HP:0012373	Abnormal eye physiology	7030	TFE3	OMIM:301066
HP:0012373	Abnormal eye physiology	1278	COL1A2	ORPHA:230851
HP:0009320	Abnormality of the epiphyses of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0002160	Hyperhomocystinemia	4552	MTRR	OMIM:236270
HP:0002160	Hyperhomocystinemia	4552	MTRR	ORPHA:2169
HP:0002160	Hyperhomocystinemia	4524	MTHFR	OMIM:236250
HP:0002160	Hyperhomocystinemia	4524	MTHFR	ORPHA:395
HP:0002160	Hyperhomocystinemia	191	AHCY	ORPHA:88618
HP:0002160	Hyperhomocystinemia	6573	SLC19A1	OMIM:601775
HP:0002160	Hyperhomocystinemia	4522	MTHFD1	OMIM:617780
HP:0002160	Hyperhomocystinemia	55788	LMBRD1	OMIM:277380
HP:0002160	Hyperhomocystinemia	55788	LMBRD1	ORPHA:79284
HP:0002160	Hyperhomocystinemia	25974	MMACHC	ORPHA:79282
HP:0002160	Hyperhomocystinemia	25974	MMACHC	OMIM:277400
HP:0002160	Hyperhomocystinemia	3054	HCFC1	OMIM:309541
HP:0002160	Hyperhomocystinemia	51293	CD320	OMIM:613646
HP:0002160	Hyperhomocystinemia	875	CBS	OMIM:236200
HP:0002160	Hyperhomocystinemia	5826	ABCD4	OMIM:614857
HP:0002160	Hyperhomocystinemia	4548	MTR	OMIM:250940
HP:0002160	Hyperhomocystinemia	27249	MMADHC	OMIM:277410
HP:0002160	Hyperhomocystinemia	5052	PRDX1	OMIM:277400
HP:0002160	Hyperhomocystinemia	84693	MCEE	OMIM:251120
HP:0002161	Hyperlysinemia	10157	AASS	ORPHA:2203
HP:0002161	Hyperlysinemia	10157	AASS	OMIM:238700
HP:0002161	Hyperlysinemia	10157	AASS	ORPHA:3124
HP:0002161	Hyperlysinemia	133686	NADK2	ORPHA:431361
HP:0002161	Hyperlysinemia	133686	NADK2	OMIM:616034
HP:0002161	Hyperlysinemia	10165	SLC25A13	OMIM:605814
HP:0002161	Hyperlysinemia	10165	SLC25A13	ORPHA:247598
HP:0002161	Hyperlysinemia	10367	MICU1	OMIM:615673
HP:0002162	Low posterior hairline	64132	XYLT2	OMIM:605822
HP:0002162	Low posterior hairline	64132	XYLT2	ORPHA:85194
HP:0002162	Low posterior hairline	3479	IGF1	ORPHA:73272
HP:0002162	Low posterior hairline	324	APC	ORPHA:261584
HP:0002162	Low posterior hairline	1947	EFNB1	ORPHA:1520
HP:0002162	Low posterior hairline	1947	EFNB1	OMIM:304110
HP:0002162	Low posterior hairline	161742	SPRED1	OMIM:611431
HP:0002162	Low posterior hairline	673	BRAF	OMIM:115150
HP:0002162	Low posterior hairline	673	BRAF	ORPHA:1340
HP:0002162	Low posterior hairline	673	BRAF	OMIM:613707
HP:0002162	Low posterior hairline	673	BRAF	OMIM:613706
HP:0002162	Low posterior hairline	673	BRAF	OMIM:163950
HP:0002162	Low posterior hairline	79650	USB1	OMIM:604173
HP:0002162	Low posterior hairline	10847	SRCAP	OMIM:136140
HP:0002162	Low posterior hairline	3020	H3-3A	OMIM:619720
HP:0002162	Low posterior hairline	23030	KDM4B	OMIM:619320
HP:0002162	Low posterior hairline	5184	PEPD	OMIM:170100
HP:0002162	Low posterior hairline	4893	NRAS	OMIM:613224
HP:0002162	Low posterior hairline	4893	NRAS	ORPHA:648
HP:0002162	Low posterior hairline	65082	VPS33A	OMIM:617303
HP:0002162	Low posterior hairline	80055	PGAP1	OMIM:615802
HP:0002162	Low posterior hairline	25782	RAB3GAP2	OMIM:212720
HP:0002162	Low posterior hairline	25782	RAB3GAP2	ORPHA:1387
HP:0002162	Low posterior hairline	3764	KCNJ8	ORPHA:1517
HP:0002162	Low posterior hairline	10060	ABCC9	ORPHA:1517
HP:0002162	Low posterior hairline	4297	KMT2A	OMIM:605130
HP:0002162	Low posterior hairline	4763	NF1	OMIM:601321
HP:0002162	Low posterior hairline	55777	MBD5	OMIM:156200
HP:0002162	Low posterior hairline	165	AEBP1	OMIM:618000
HP:0002162	Low posterior hairline	10265	IRX5	OMIM:611174
HP:0002162	Low posterior hairline	5604	MAP2K1	ORPHA:1340
HP:0002162	Low posterior hairline	5604	MAP2K1	OMIM:163950
HP:0002162	Low posterior hairline	5605	MAP2K2	ORPHA:1340
HP:0002162	Low posterior hairline	3845	KRAS	ORPHA:1340
HP:0002162	Low posterior hairline	3845	KRAS	ORPHA:648
HP:0002162	Low posterior hairline	1000	CDH2	OMIM:618929
HP:0002162	Low posterior hairline	7020	TFAP2A	OMIM:113620
HP:0002162	Low posterior hairline	7319	UBE2A	OMIM:300860
HP:0002162	Low posterior hairline	7319	UBE2A	ORPHA:163956
HP:0002162	Low posterior hairline	10815	CPLX1	ORPHA:280
HP:0002162	Low posterior hairline	10815	CPLX1	OMIM:194190
HP:0002162	Low posterior hairline	54872	PIGG	ORPHA:280
HP:0002162	Low posterior hairline	7469	NELFA	ORPHA:280
HP:0002162	Low posterior hairline	1487	CTBP1	ORPHA:280
HP:0002162	Low posterior hairline	1487	CTBP1	OMIM:194190
HP:0002162	Low posterior hairline	3954	LETM1	ORPHA:280
HP:0002162	Low posterior hairline	3954	LETM1	OMIM:194190
HP:0002162	Low posterior hairline	7468	NSD2	ORPHA:280
HP:0002162	Low posterior hairline	7468	NSD2	OMIM:194190
HP:0002162	Low posterior hairline	8036	SHOC2	ORPHA:2701
HP:0002162	Low posterior hairline	5500	PPP1CB	ORPHA:2701
HP:0002162	Low posterior hairline	5500	PPP1CB	OMIM:617506
HP:0002162	Low posterior hairline	4854	NOTCH3	ORPHA:2789
HP:0002162	Low posterior hairline	51729	WBP11	OMIM:619227
HP:0002162	Low posterior hairline	200734	SPRED2	OMIM:619745
HP:0002162	Low posterior hairline	200734	SPRED2	ORPHA:648
HP:0002162	Low posterior hairline	6602	SMARCD1	OMIM:618779
HP:0002162	Low posterior hairline	53834	FGFRL1	OMIM:194190
HP:0002162	Low posterior hairline	6234	RPS28	OMIM:606164
HP:0002162	Low posterior hairline	60	ACTB	OMIM:243310
HP:0002162	Low posterior hairline	60	ACTB	ORPHA:2995
HP:0002162	Low posterior hairline	57167	SALL4	ORPHA:233
HP:0002162	Low posterior hairline	9935	MAFB	ORPHA:233
HP:0002162	Low posterior hairline	1123	CHN1	ORPHA:233
HP:0002162	Low posterior hairline	23476	BRD4	ORPHA:199
HP:0002162	Low posterior hairline	9126	SMC3	ORPHA:199
HP:0002162	Low posterior hairline	8243	SMC1A	ORPHA:199
HP:0002162	Low posterior hairline	25836	NIPBL	ORPHA:199
HP:0002162	Low posterior hairline	25836	NIPBL	OMIM:122470
HP:0002162	Low posterior hairline	55869	HDAC8	ORPHA:199
HP:0002162	Low posterior hairline	5885	RAD21	ORPHA:199
HP:0002162	Low posterior hairline	392255	GDF6	OMIM:118100
HP:0002162	Low posterior hairline	392255	GDF6	ORPHA:2345
HP:0002162	Low posterior hairline	1387	CREBBP	OMIM:180849
HP:0002162	Low posterior hairline	2033	EP300	OMIM:180849
HP:0002162	Low posterior hairline	29957	SLC25A24	OMIM:612289
HP:0002162	Low posterior hairline	79005	SCNM1	OMIM:620107
HP:0002162	Low posterior hairline	4784	NFIX	ORPHA:420179
HP:0002162	Low posterior hairline	54499	TMCO1	OMIM:213980
HP:0002162	Low posterior hairline	54499	TMCO1	ORPHA:1394
HP:0002162	Low posterior hairline	5293	PIK3CD	ORPHA:221139
HP:0002162	Low posterior hairline	90417	KNSTRN	ORPHA:221139
HP:0002162	Low posterior hairline	79796	ALG9	ORPHA:79328
HP:0002162	Low posterior hairline	8567	MADD	OMIM:619004
HP:0002162	Low posterior hairline	374879	ZNF699	OMIM:619488
HP:0002162	Low posterior hairline	5594	MAPK1	OMIM:619087
HP:0002162	Low posterior hairline	28952	CCDC22	OMIM:300963
HP:0002162	Low posterior hairline	4849	CNOT3	OMIM:618672
HP:0002162	Low posterior hairline	226	ALDOA	OMIM:611881
HP:0002162	Low posterior hairline	4222	MEOX1	OMIM:214300
HP:0002162	Low posterior hairline	4222	MEOX1	ORPHA:2345
HP:0002162	Low posterior hairline	80267	EDEM3	OMIM:619493
HP:0002162	Low posterior hairline	9897	WASHC5	OMIM:220210
HP:0002162	Low posterior hairline	10020	GNE	OMIM:269921
HP:0002162	Low posterior hairline	5286	PIK3C2A	OMIM:618440
HP:0002162	Low posterior hairline	738	VPS51	OMIM:618606
HP:0002162	Low posterior hairline	22930	RAB3GAP1	ORPHA:1387
HP:0002162	Low posterior hairline	23133	PHF8	ORPHA:85287
HP:0002162	Low posterior hairline	23133	PHF8	OMIM:300263
HP:0002162	Low posterior hairline	54187	NANS	OMIM:610442
HP:0002162	Low posterior hairline	84700	MYO18B	OMIM:616549
HP:0002162	Low posterior hairline	22800	RRAS2	ORPHA:648
HP:0002162	Low posterior hairline	867	CBL	ORPHA:648
HP:0002162	Low posterior hairline	867	CBL	OMIM:613563
HP:0002162	Low posterior hairline	8216	LZTR1	ORPHA:648
HP:0002162	Low posterior hairline	8216	LZTR1	OMIM:605275
HP:0002162	Low posterior hairline	6016	RIT1	ORPHA:648
HP:0002162	Low posterior hairline	6237	RRAS	ORPHA:648
HP:0002162	Low posterior hairline	5894	RAF1	ORPHA:648
HP:0002162	Low posterior hairline	22808	MRAS	ORPHA:648
HP:0002162	Low posterior hairline	6654	SOS1	ORPHA:648
HP:0002162	Low posterior hairline	6655	SOS2	ORPHA:648
HP:0002162	Low posterior hairline	5781	PTPN11	ORPHA:648
HP:0002162	Low posterior hairline	5781	PTPN11	OMIM:163950
HP:0002162	Low posterior hairline	5922	RASA2	ORPHA:648
HP:0002162	Low posterior hairline	4621	MYH3	ORPHA:2990
HP:0002162	Low posterior hairline	1146	CHRNG	ORPHA:2990
HP:0002162	Low posterior hairline	5468	PPARG	ORPHA:528
HP:0002162	Low posterior hairline	10555	AGPAT2	ORPHA:528
HP:0002162	Low posterior hairline	284119	CAVIN1	ORPHA:528
HP:0002162	Low posterior hairline	26580	BSCL2	ORPHA:528
HP:0002162	Low posterior hairline	2353	FOS	ORPHA:528
HP:0002162	Low posterior hairline	857	CAV1	ORPHA:528
HP:0002162	Low posterior hairline	6913	TBX15	ORPHA:93333
HP:0002162	Low posterior hairline	79087	ALG12	ORPHA:79324
HP:0002162	Low posterior hairline	71	ACTG1	ORPHA:2995
HP:0002162	Low posterior hairline	9469	CHST3	OMIM:245600
HP:0002162	Low posterior hairline	26229	B3GAT3	OMIM:245600
HP:0002162	Low posterior hairline	6595	SMARCA2	OMIM:601358
HP:0002162	Low posterior hairline	29123	ANKRD11	OMIM:148050
HP:0002162	Low posterior hairline	8621	CDK13	OMIM:617360
HP:0002162	Low posterior hairline	9181	ARHGEF2	OMIM:617523
HP:0002162	Low posterior hairline	9573	GDF3	ORPHA:2345
HP:0002162	Low posterior hairline	6736	SRY	ORPHA:1772
HP:0002162	Low posterior hairline	27152	INTU	OMIM:617925
HP:0002162	Low posterior hairline	10075	HUWE1	OMIM:309590
HP:0001788	Premature rupture of membranes	9968	MED12	OMIM:301068
HP:0001788	Premature rupture of membranes	1277	COL1A1	ORPHA:287
HP:0001788	Premature rupture of membranes	1290	COL5A2	ORPHA:287
HP:0001788	Premature rupture of membranes	9509	ADAMTS2	OMIM:225410
HP:0001788	Premature rupture of membranes	1281	COL3A1	OMIM:618343
HP:0001788	Premature rupture of membranes	221496	LEMD2	OMIM:619322
HP:0001788	Premature rupture of membranes	5351	PLOD1	OMIM:225400
HP:0001788	Premature rupture of membranes	50619	DEF6	OMIM:619573
HP:0001788	Premature rupture of membranes	23545	ATP6V0A2	ORPHA:2834
HP:0001788	Premature rupture of membranes	23545	ATP6V0A2	OMIM:278250
HP:0001788	Premature rupture of membranes	23394	ADNP	OMIM:615873
HP:0001788	Premature rupture of membranes	2261	FGFR3	OMIM:100800
HP:0001788	Premature rupture of membranes	89970	RSPRY1	OMIM:616723
HP:0001788	Premature rupture of membranes	10269	ZMPSTE24	OMIM:275210
HP:0001788	Premature rupture of membranes	871	SERPINH1	OMIM:610504
HP:0001788	Premature rupture of membranes	8241	RBM10	OMIM:311900
HP:0001788	Premature rupture of membranes	1289	COL5A1	OMIM:130000
HP:0002164	Nail dysplasia	1896	EDA	OMIM:305100
HP:0002164	Nail dysplasia	51132	RLIM	OMIM:300978
HP:0002164	Nail dysplasia	3848	KRT1	ORPHA:530838
HP:0002164	Nail dysplasia	5333	PLCD1	OMIM:151600
HP:0002164	Nail dysplasia	7227	TRPS1	OMIM:190350
HP:0002164	Nail dysplasia	8626	TP63	OMIM:106260
HP:0002164	Nail dysplasia	51371	POMP	OMIM:601952
HP:0002164	Nail dysplasia	170302	ARX	OMIM:300004
HP:0002164	Nail dysplasia	3021	H3-3B	OMIM:619721
HP:0002164	Nail dysplasia	4998	ORC1	OMIM:224690
HP:0002164	Nail dysplasia	1889	ECE1	OMIM:613870
HP:0002164	Nail dysplasia	3248	HPGD	ORPHA:217059
HP:0002164	Nail dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002164	Nail dysplasia	25942	SIN3A	OMIM:613406
HP:0002164	Nail dysplasia	26040	SETBP1	OMIM:269150
HP:0002164	Nail dysplasia	6925	TCF4	OMIM:610954
HP:0002164	Nail dysplasia	55650	PIGV	OMIM:239300
HP:0002164	Nail dysplasia	51506	UFC1	OMIM:618076
HP:0002164	Nail dysplasia	3107	HLA-C	OMIM:177900
HP:0002164	Nail dysplasia	4487	MSX1	OMIM:189500
HP:0002164	Nail dysplasia	8456	FOXN1	OMIM:601705
HP:0002164	Nail dysplasia	8456	FOXN1	ORPHA:169095
HP:0002164	Nail dysplasia	545	ATR	OMIM:614564
HP:0002164	Nail dysplasia	128178	EDARADD	OMIM:129490
HP:0002164	Nail dysplasia	10913	EDAR	OMIM:129490
HP:0002164	Nail dysplasia	55630	SLC39A4	ORPHA:37
HP:0002164	Nail dysplasia	488	ATP2A2	OMIM:101900
HP:0002164	Nail dysplasia	488	ATP2A2	OMIM:124200
HP:0002164	Nail dysplasia	55612	FERMT1	OMIM:173650
HP:0002164	Nail dysplasia	10161	LPAR6	OMIM:278150
HP:0002164	Nail dysplasia	7012	TERC	OMIM:127550
HP:0002164	Nail dysplasia	1947	EFNB1	OMIM:304110
HP:0002164	Nail dysplasia	404672	GTF2H5	ORPHA:33364
HP:0002164	Nail dysplasia	833	CARS1	ORPHA:33364
HP:0002164	Nail dysplasia	2068	ERCC2	ORPHA:33364
HP:0002164	Nail dysplasia	7737	RNF113A	ORPHA:33364
HP:0002164	Nail dysplasia	6897	TARS1	ORPHA:33364
HP:0002164	Nail dysplasia	2071	ERCC3	ORPHA:33364
HP:0002164	Nail dysplasia	2961	GTF2E2	ORPHA:33364
HP:0002164	Nail dysplasia	1736	DKC1	OMIM:305000
HP:0002164	Nail dysplasia	6197	RPS6KA3	OMIM:303600
HP:0002164	Nail dysplasia	6197	RPS6KA3	ORPHA:192
HP:0002164	Nail dysplasia	9791	PTDSS1	ORPHA:2658
HP:0002164	Nail dysplasia	53834	FGFRL1	OMIM:194190
HP:0002164	Nail dysplasia	1487	CTBP1	OMIM:194190
HP:0002164	Nail dysplasia	3954	LETM1	OMIM:194190
HP:0002164	Nail dysplasia	7468	NSD2	OMIM:194190
HP:0002164	Nail dysplasia	10815	CPLX1	OMIM:194190
HP:0002164	Nail dysplasia	3265	HRAS	ORPHA:3071
HP:0002164	Nail dysplasia	3265	HRAS	OMIM:218040
HP:0002164	Nail dysplasia	2146	EZH2	OMIM:277590
HP:0002164	Nail dysplasia	2146	EZH2	ORPHA:3447
HP:0002164	Nail dysplasia	64324	NSD1	ORPHA:3447
HP:0002164	Nail dysplasia	8726	EED	ORPHA:3447
HP:0002164	Nail dysplasia	23512	SUZ12	ORPHA:3447
HP:0002164	Nail dysplasia	84818	IL17RC	ORPHA:1334
HP:0002164	Nail dysplasia	64581	CLEC7A	ORPHA:1334
HP:0002164	Nail dysplasia	23765	IL17RA	ORPHA:1334
HP:0002164	Nail dysplasia	10758	TRAF3IP2	ORPHA:1334
HP:0002164	Nail dysplasia	112744	IL17F	ORPHA:1334
HP:0002164	Nail dysplasia	3549	IHH	OMIM:607778
HP:0002164	Nail dysplasia	3549	IHH	ORPHA:63446
HP:0002164	Nail dysplasia	112752	IFT43	OMIM:614099
HP:0002164	Nail dysplasia	2273	FHL1	OMIM:300280
HP:0002164	Nail dysplasia	50964	SOST	OMIM:269500
HP:0002164	Nail dysplasia	2737	GLI3	ORPHA:672
HP:0002164	Nail dysplasia	2737	GLI3	OMIM:146510
HP:0002164	Nail dysplasia	7051	TGM1	OMIM:242300
HP:0002164	Nail dysplasia	8323	FZD6	OMIM:161050
HP:0002164	Nail dysplasia	5339	PLEC	OMIM:226730
HP:0002164	Nail dysplasia	5339	PLEC	OMIM:226670
HP:0002164	Nail dysplasia	3691	ITGB4	OMIM:226730
HP:0002164	Nail dysplasia	2132	EXT2	OMIM:616682
HP:0002164	Nail dysplasia	54101	RIPK4	ORPHA:1401
HP:0002164	Nail dysplasia	54101	RIPK4	OMIM:214350
HP:0002164	Nail dysplasia	4038	LRP4	OMIM:614305
HP:0002164	Nail dysplasia	19	ABCA1	OMIM:205400
HP:0002164	Nail dysplasia	55733	HHAT	OMIM:600092
HP:0002164	Nail dysplasia	6720	SREBF1	OMIM:158310
HP:0002164	Nail dysplasia	1294	COL7A1	OMIM:226600
HP:0002164	Nail dysplasia	1294	COL7A1	ORPHA:89842
HP:0002164	Nail dysplasia	1294	COL7A1	OMIM:604129
HP:0002164	Nail dysplasia	1294	COL7A1	OMIM:131750
HP:0002164	Nail dysplasia	4312	MMP1	OMIM:226600
HP:0002164	Nail dysplasia	4010	LMX1B	ORPHA:495818
HP:0002164	Nail dysplasia	6812	STXBP1	ORPHA:495818
HP:0002164	Nail dysplasia	123041	SLC24A4	OMIM:615887
HP:0002164	Nail dysplasia	999	CDH1	OMIM:119580
HP:0002164	Nail dysplasia	3872	KRT17	OMIM:167210
HP:0002164	Nail dysplasia	7015	TERT	OMIM:613989
HP:0002164	Nail dysplasia	2735	GLI1	OMIM:618123
HP:0002164	Nail dysplasia	2735	GLI1	ORPHA:289
HP:0002164	Nail dysplasia	10940	POP1	OMIM:617396
HP:0002164	Nail dysplasia	26277	TINF2	OMIM:613990
HP:0002164	Nail dysplasia	3643	INSR	OMIM:246200
HP:0002164	Nail dysplasia	6786	STIM1	OMIM:612783
HP:0002164	Nail dysplasia	80326	WNT10A	OMIM:257980
HP:0002164	Nail dysplasia	10804	GJB6	OMIM:129500
HP:0002164	Nail dysplasia	727857	BHLHA9	OMIM:607539
HP:0002164	Nail dysplasia	5566	PRKACA	ORPHA:289
HP:0002164	Nail dysplasia	5566	PRKACA	OMIM:619142
HP:0002164	Nail dysplasia	5567	PRKACB	ORPHA:289
HP:0002164	Nail dysplasia	5567	PRKACB	OMIM:619143
HP:0002164	Nail dysplasia	2121	EVC	ORPHA:289
HP:0002164	Nail dysplasia	2121	EVC	OMIM:193530
HP:0002164	Nail dysplasia	2121	EVC	OMIM:225500
HP:0002164	Nail dysplasia	51626	DYNC2LI1	ORPHA:289
HP:0002164	Nail dysplasia	51626	DYNC2LI1	OMIM:617088
HP:0002164	Nail dysplasia	132884	EVC2	ORPHA:289
HP:0002164	Nail dysplasia	132884	EVC2	OMIM:193530
HP:0002164	Nail dysplasia	132884	EVC2	OMIM:225500
HP:0002164	Nail dysplasia	1500	CTNND1	OMIM:617681
HP:0002164	Nail dysplasia	8985	PLOD3	OMIM:612394
HP:0002164	Nail dysplasia	4914	NTRK1	OMIM:256800
HP:0002164	Nail dysplasia	23314	SATB2	OMIM:612313
HP:0002164	Nail dysplasia	374393	FAM111B	OMIM:615704
HP:0002164	Nail dysplasia	64840	PORCN	OMIM:305600
HP:0002164	Nail dysplasia	3887	KRT81	OMIM:158000
HP:0002164	Nail dysplasia	3889	KRT83	OMIM:158000
HP:0002164	Nail dysplasia	3892	KRT86	OMIM:158000
HP:0002164	Nail dysplasia	3852	KRT5	OMIM:131960
HP:0002164	Nail dysplasia	3852	KRT5	ORPHA:79397
HP:0002164	Nail dysplasia	9401	RECQL4	ORPHA:221016
HP:0002164	Nail dysplasia	2697	GJA1	OMIM:104100
HP:0002164	Nail dysplasia	284252	KCTD1	OMIM:181270
HP:0002164	Nail dysplasia	51360	MBTPS2	OMIM:308205
HP:0002164	Nail dysplasia	136647	MPLKIP	OMIM:234050
HP:0002164	Nail dysplasia	162514	TRPV3	OMIM:614594
HP:0002164	Nail dysplasia	2263	FGFR2	ORPHA:2363
HP:0002164	Nail dysplasia	2261	FGFR3	ORPHA:2363
HP:0002164	Nail dysplasia	2255	FGF10	ORPHA:2363
HP:0002164	Nail dysplasia	4920	ROR2	OMIM:268310
HP:0002164	Nail dysplasia	5264	PHYH	ORPHA:773
HP:0002164	Nail dysplasia	5191	PEX7	ORPHA:773
HP:0002164	Nail dysplasia	8813	DPM1	OMIM:608799
HP:0002164	Nail dysplasia	8813	DPM1	ORPHA:79322
HP:0002164	Nail dysplasia	2239	GPC4	ORPHA:373
HP:0002164	Nail dysplasia	2719	GPC3	ORPHA:373
HP:0002164	Nail dysplasia	652	BMP4	ORPHA:139471
HP:0002164	Nail dysplasia	6603	SMARCD2	OMIM:617475
HP:0002164	Nail dysplasia	5818	NECTIN1	OMIM:225060
HP:0002164	Nail dysplasia	84168	ANTXR1	OMIM:230740
HP:0002164	Nail dysplasia	7476	WNT7A	ORPHA:2879
HP:0002164	Nail dysplasia	7474	WNT5A	OMIM:180700
HP:0002164	Nail dysplasia	1855	DVL1	OMIM:180700
HP:0002164	Nail dysplasia	10195	ALG3	OMIM:601110
HP:0002164	Nail dysplasia	1513	CTSK	ORPHA:763
HP:0002164	Nail dysplasia	57539	WDR35	OMIM:614091
HP:0002164	Nail dysplasia	3914	LAMB3	OMIM:226700
HP:0002164	Nail dysplasia	3909	LAMA3	OMIM:226700
HP:0002164	Nail dysplasia	3918	LAMC2	OMIM:226700
HP:0002164	Nail dysplasia	8295	TRRAP	OMIM:618454
HP:0002164	Nail dysplasia	80169	CTC1	OMIM:612199
HP:0002164	Nail dysplasia	6736	SRY	ORPHA:1772
HP:0002164	Nail dysplasia	2316	FLNA	OMIM:311300
HP:0002164	Nail dysplasia	2706	GJB2	OMIM:148210
HP:0002164	Nail dysplasia	3229	HOXC13	OMIM:614931
HP:0002164	Nail dysplasia	11342	RNF13	ORPHA:544503
HP:0002164	Nail dysplasia	8517	IKBKG	OMIM:308300
HP:0002164	Nail dysplasia	3861	KRT14	ORPHA:79397
HP:0002164	Nail dysplasia	25886	POC1A	OMIM:614813
HP:0002164	Nail dysplasia	64682	ANAPC1	ORPHA:221008
HP:0002164	Nail dysplasia	3891	KRT85	OMIM:602032
HP:0002164	Nail dysplasia	4791	NFKB2	OMIM:615577
HP:0002164	Nail dysplasia	6872	TAF1	OMIM:300966
HP:0002164	Nail dysplasia	285203	EOGT	OMIM:615297
HP:0002164	Nail dysplasia	650	BMP2	OMIM:617877
HP:0002164	Nail dysplasia	85358	SHANK3	OMIM:606232
HP:0002164	Nail dysplasia	2324	FLT4	ORPHA:79452
HP:0002164	Nail dysplasia	57165	GJC2	ORPHA:79452
HP:0002164	Nail dysplasia	526	ATP6V1B2	ORPHA:79500
HP:0002164	Nail dysplasia	57465	TBC1D24	ORPHA:79500
HP:0002164	Nail dysplasia	7424	VEGFC	OMIM:615907
HP:0002164	Nail dysplasia	3590	IL11RA	OMIM:614188
HP:0002164	Nail dysplasia	1857	DVL3	ORPHA:3107
HP:0002164	Nail dysplasia	2535	FZD2	ORPHA:3107
HP:0002164	Nail dysplasia	7020	TFAP2A	ORPHA:1297
HP:0002164	Nail dysplasia	64359	NXN	ORPHA:1507
HP:0002164	Nail dysplasia	3868	KRT16	ORPHA:2309
HP:0002164	Nail dysplasia	3853	KRT6A	ORPHA:2309
HP:0002164	Nail dysplasia	3854	KRT6B	ORPHA:2309
HP:0002165	Pterygium of nails	1736	DKC1	OMIM:305000
HP:0002165	Pterygium of nails	55651	NHP2	OMIM:224230
HP:0002165	Pterygium of nails	55505	NOP10	OMIM:224230
HP:0002166	Impaired vibration sensation in the lower limbs	9897	WASHC5	OMIM:603563
HP:0002166	Impaired vibration sensation in the lower limbs	9897	WASHC5	ORPHA:100989
HP:0002166	Impaired vibration sensation in the lower limbs	23769	FLRT1	ORPHA:320406
HP:0002166	Impaired vibration sensation in the lower limbs	64837	KLC2	ORPHA:320406
HP:0002166	Impaired vibration sensation in the lower limbs	340075	ARSI	ORPHA:401815
HP:0002166	Impaired vibration sensation in the lower limbs	9197	SLC33A1	ORPHA:171863
HP:0002166	Impaired vibration sensation in the lower limbs	3094	HINT1	ORPHA:324442
HP:0002166	Impaired vibration sensation in the lower limbs	2643	GCH1	ORPHA:98808
HP:0002166	Impaired vibration sensation in the lower limbs	4929	NR4A2	ORPHA:98808
HP:0002166	Impaired vibration sensation in the lower limbs	3615	IMPDH2	ORPHA:98808
HP:0002166	Impaired vibration sensation in the lower limbs	7415	VCP	ORPHA:435387
HP:0002166	Impaired vibration sensation in the lower limbs	57704	GBA2	ORPHA:352641
HP:0002166	Impaired vibration sensation in the lower limbs	57704	GBA2	OMIM:614409
HP:0002166	Impaired vibration sensation in the lower limbs	4508	MT-ATP6	ORPHA:320360
HP:0002166	Impaired vibration sensation in the lower limbs	55775	TDP1	ORPHA:94124
HP:0002166	Impaired vibration sensation in the lower limbs	11128	POLR3A	ORPHA:447896
HP:0002166	Impaired vibration sensation in the lower limbs	11160	ERLIN2	ORPHA:209951
HP:0002166	Impaired vibration sensation in the lower limbs	6687	SPG7	ORPHA:99013
HP:0002166	Impaired vibration sensation in the lower limbs	6687	SPG7	OMIM:607259
HP:0002166	Impaired vibration sensation in the lower limbs	123606	NIPA1	OMIM:600363
HP:0002166	Impaired vibration sensation in the lower limbs	55958	KLHL9	ORPHA:399081
HP:0002166	Impaired vibration sensation in the lower limbs	6253	RTN2	OMIM:604805
HP:0002166	Impaired vibration sensation in the lower limbs	6253	RTN2	ORPHA:100993
HP:0002166	Impaired vibration sensation in the lower limbs	5165	PDK3	ORPHA:352675
HP:0002166	Impaired vibration sensation in the lower limbs	3035	HARS1	ORPHA:488333
HP:0002166	Impaired vibration sensation in the lower limbs	26278	SACS	OMIM:270550
HP:0002166	Impaired vibration sensation in the lower limbs	80208	SPG11	OMIM:604360
HP:0002166	Impaired vibration sensation in the lower limbs	219285	SAMD9L	OMIM:159550
HP:0002166	Impaired vibration sensation in the lower limbs	28982	FLVCR1	ORPHA:88628
HP:0002166	Impaired vibration sensation in the lower limbs	28982	FLVCR1	OMIM:609033
HP:0002166	Impaired vibration sensation in the lower limbs	3329	HSPD1	OMIM:605280
HP:0002166	Impaired vibration sensation in the lower limbs	3329	HSPD1	ORPHA:100994
HP:0002166	Impaired vibration sensation in the lower limbs	55157	DARS2	ORPHA:137898
HP:0002166	Impaired vibration sensation in the lower limbs	5173	PDYN	OMIM:610245
HP:0002166	Impaired vibration sensation in the lower limbs	9997	SCO2	ORPHA:521411
HP:0002166	Impaired vibration sensation in the lower limbs	6683	SPAST	OMIM:182601
HP:0002166	Impaired vibration sensation in the lower limbs	51062	ATL1	OMIM:182600
HP:0002166	Impaired vibration sensation in the lower limbs	5190	PEX6	ORPHA:95433
HP:0002166	Impaired vibration sensation in the lower limbs	26580	BSCL2	OMIM:270685
HP:0002166	Impaired vibration sensation in the lower limbs	6843	VAMP1	ORPHA:251282
HP:0002166	Impaired vibration sensation in the lower limbs	84188	FAR1	ORPHA:447753
HP:0002166	Impaired vibration sensation in the lower limbs	5832	ALDH18A1	ORPHA:447753
HP:0002166	Impaired vibration sensation in the lower limbs	51271	UBAP1	ORPHA:100993
HP:0002166	Impaired vibration sensation in the lower limbs	126129	CPT1C	ORPHA:444099
HP:0002166	Impaired vibration sensation in the lower limbs	9420	CYP7B1	OMIM:270800
HP:0002166	Impaired vibration sensation in the lower limbs	57599	WDR48	ORPHA:401800
HP:0002166	Impaired vibration sensation in the lower limbs	3839	KPNA3	ORPHA:171612
HP:0002166	Impaired vibration sensation in the lower limbs	9517	SPTLC2	OMIM:613640
HP:0002166	Impaired vibration sensation in the lower limbs	51308	REEP2	OMIM:615625
HP:0002166	Impaired vibration sensation in the lower limbs	5376	PMP22	ORPHA:90658
HP:0002166	Impaired vibration sensation in the lower limbs	3798	KIF5A	OMIM:604187
HP:0002166	Impaired vibration sensation in the lower limbs	3752	KCND3	ORPHA:98772
HP:0002166	Impaired vibration sensation in the lower limbs	2583	B4GALNT1	ORPHA:101006
HP:0002166	Impaired vibration sensation in the lower limbs	23111	SPART	OMIM:275900
HP:0002166	Impaired vibration sensation in the lower limbs	215	ABCD1	OMIM:300100
HP:0002166	Impaired vibration sensation in the lower limbs	7504	XK	OMIM:300842
HP:0002166	Impaired vibration sensation in the lower limbs	8913	CACNA1G	ORPHA:458803
HP:0002166	Impaired vibration sensation in the lower limbs	8913	CACNA1G	OMIM:616795
HP:0002166	Impaired vibration sensation in the lower limbs	7345	UCHL1	OMIM:615491
HP:0002166	Impaired vibration sensation in the lower limbs	271	AMPD2	OMIM:615686
HP:0002166	Impaired vibration sensation in the lower limbs	5582	PRKCG	OMIM:605361
HP:0002167	Abnormality of speech or vocalization	55703	POLR3B	OMIM:614381
HP:0002167	Abnormality of speech or vocalization	55703	POLR3B	OMIM:619742
HP:0002167	Abnormality of speech or vocalization	51256	TBC1D7	OMIM:248000
HP:0002167	Abnormality of speech or vocalization	23135	KDM6B	OMIM:618505
HP:0002167	Abnormality of speech or vocalization	6659	SOX4	OMIM:618506
HP:0002167	Abnormality of speech or vocalization	84334	COA8	ORPHA:436271
HP:0002167	Abnormality of speech or vocalization	84334	COA8	OMIM:619061
HP:0002167	Abnormality of speech or vocalization	81570	CLPB	OMIM:619835
HP:0002167	Abnormality of speech or vocalization	5457	POU4F1	ORPHA:314647
HP:0002167	Abnormality of speech or vocalization	23261	CAMTA1	ORPHA:314647
HP:0002167	Abnormality of speech or vocalization	23261	CAMTA1	OMIM:614756
HP:0002167	Abnormality of speech or vocalization	10159	ATP6AP2	ORPHA:93952
HP:0002167	Abnormality of speech or vocalization	10159	ATP6AP2	OMIM:300423
HP:0002167	Abnormality of speech or vocalization	55209	SETD5	ORPHA:404440
HP:0002167	Abnormality of speech or vocalization	55209	SETD5	OMIM:615761
HP:0002167	Abnormality of speech or vocalization	4125	MAN2B1	ORPHA:309282
HP:0002167	Abnormality of speech or vocalization	4125	MAN2B1	ORPHA:309288
HP:0002167	Abnormality of speech or vocalization	24137	KIF4A	OMIM:300923
HP:0002167	Abnormality of speech or vocalization	4487	MSX1	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	1739	DLG1	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	652	BMP4	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	8626	TP63	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	999	CDH1	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	5156	PDGFRA	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	3664	IRF6	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	9411	ARHGAP29	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	1748	DLX4	ORPHA:199306
HP:0002167	Abnormality of speech or vocalization	8942	KYNU	OMIM:617661
HP:0002167	Abnormality of speech or vocalization	283489	CHAMP1	OMIM:616579
HP:0002167	Abnormality of speech or vocalization	27245	AHDC1	ORPHA:412069
HP:0002167	Abnormality of speech or vocalization	27245	AHDC1	OMIM:615829
HP:0002167	Abnormality of speech or vocalization	55690	PACS1	OMIM:615009
HP:0002167	Abnormality of speech or vocalization	55690	PACS1	ORPHA:329224
HP:0002167	Abnormality of speech or vocalization	55904	KMT2E	OMIM:618512
HP:0002167	Abnormality of speech or vocalization	318	NUDT2	OMIM:619844
HP:0002167	Abnormality of speech or vocalization	57082	KNL1	OMIM:604321
HP:0002167	Abnormality of speech or vocalization	55650	PIGV	OMIM:239300
HP:0002167	Abnormality of speech or vocalization	2192	FBLN1	ORPHA:404451
HP:0002167	Abnormality of speech or vocalization	2188	FANCF	OMIM:603467
HP:0002167	Abnormality of speech or vocalization	284403	WDR62	OMIM:604317
HP:0002167	Abnormality of speech or vocalization	8029	CUBN	ORPHA:35858
HP:0002167	Abnormality of speech or vocalization	81693	AMN	ORPHA:35858
HP:0002167	Abnormality of speech or vocalization	7054	TH	OMIM:605407
HP:0002167	Abnormality of speech or vocalization	7054	TH	ORPHA:101150
HP:0002167	Abnormality of speech or vocalization	79868	ALG13	ORPHA:324422
HP:0002167	Abnormality of speech or vocalization	288	ANK3	OMIM:615493
HP:0002167	Abnormality of speech or vocalization	288	ANK3	ORPHA:356996
HP:0002167	Abnormality of speech or vocalization	55154	MSTO1	OMIM:617675
HP:0002167	Abnormality of speech or vocalization	55154	MSTO1	ORPHA:502423
HP:0002167	Abnormality of speech or vocalization	64359	NXN	OMIM:618529
HP:0002167	Abnormality of speech or vocalization	2770	GNAI1	OMIM:619854
HP:0002167	Abnormality of speech or vocalization	4091	SMAD6	OMIM:617439
HP:0002167	Abnormality of speech or vocalization	57231	SNX14	OMIM:616354
HP:0002167	Abnormality of speech or vocalization	57231	SNX14	ORPHA:397709
HP:0002167	Abnormality of speech or vocalization	23327	NEDD4L	OMIM:617201
HP:0002167	Abnormality of speech or vocalization	5833	PCYT2	OMIM:618770
HP:0002167	Abnormality of speech or vocalization	6602	SMARCD1	OMIM:618779
HP:0002167	Abnormality of speech or vocalization	5373	PMM2	OMIM:212065
HP:0002167	Abnormality of speech or vocalization	5373	PMM2	ORPHA:79318
HP:0002167	Abnormality of speech or vocalization	8493	PPM1D	OMIM:617450
HP:0002167	Abnormality of speech or vocalization	26038	CHD5	OMIM:619873
HP:0002167	Abnormality of speech or vocalization	55621	TRMT1	OMIM:618302
HP:0002167	Abnormality of speech or vocalization	23126	POGZ	OMIM:616364
HP:0002167	Abnormality of speech or vocalization	23126	POGZ	ORPHA:468678
HP:0002167	Abnormality of speech or vocalization	55773	TBC1D23	OMIM:617695
HP:0002167	Abnormality of speech or vocalization	57680	CHD8	OMIM:615032
HP:0002167	Abnormality of speech or vocalization	8558	CDK10	OMIM:617694
HP:0002167	Abnormality of speech or vocalization	51633	OTUD6B	OMIM:617452
HP:0002167	Abnormality of speech or vocalization	9354	UBE4A	OMIM:619639
HP:0002167	Abnormality of speech or vocalization	55280	CWF19L1	OMIM:616127
HP:0002167	Abnormality of speech or vocalization	55280	CWF19L1	ORPHA:453521
HP:0002167	Abnormality of speech or vocalization	3098	HK1	OMIM:618547
HP:0002167	Abnormality of speech or vocalization	79718	TBL1XR1	OMIM:602342
HP:0002167	Abnormality of speech or vocalization	200424	TET3	OMIM:618798
HP:0002167	Abnormality of speech or vocalization	111	ADCY5	OMIM:619647
HP:0002167	Abnormality of speech or vocalization	111	ADCY5	OMIM:619651
HP:0002167	Abnormality of speech or vocalization	9772	TMEM94	OMIM:618316
HP:0002167	Abnormality of speech or vocalization	79971	WLS	OMIM:619648
HP:0002167	Abnormality of speech or vocalization	9711	RUBCN	ORPHA:404499
HP:0002167	Abnormality of speech or vocalization	9711	RUBCN	OMIM:615705
HP:0002167	Abnormality of speech or vocalization	4208	MEF2C	ORPHA:228384
HP:0002167	Abnormality of speech or vocalization	5981	RFC1	ORPHA:504476
HP:0002167	Abnormality of speech or vocalization	55739	NAXD	OMIM:618321
HP:0002167	Abnormality of speech or vocalization	7143	TNR	OMIM:619653
HP:0002167	Abnormality of speech or vocalization	374969	SVBP	OMIM:618569
HP:0002167	Abnormality of speech or vocalization	51322	WAC	ORPHA:466950
HP:0002167	Abnormality of speech or vocalization	51322	WAC	ORPHA:284169
HP:0002167	Abnormality of speech or vocalization	51322	WAC	OMIM:616708
HP:0002167	Abnormality of speech or vocalization	2778	GNAS	ORPHA:79445
HP:0002167	Abnormality of speech or vocalization	25970	SH2B1	ORPHA:261197
HP:0002167	Abnormality of speech or vocalization	25970	SH2B1	ORPHA:261222
HP:0002167	Abnormality of speech or vocalization	25970	SH2B1	ORPHA:329249
HP:0002167	Abnormality of speech or vocalization	2033	EP300	OMIM:618333
HP:0002167	Abnormality of speech or vocalization	2033	EP300	OMIM:613684
HP:0002167	Abnormality of speech or vocalization	2033	EP300	ORPHA:353284
HP:0002167	Abnormality of speech or vocalization	2033	EP300	OMIM:180849
HP:0002167	Abnormality of speech or vocalization	10533	ATG7	OMIM:619422
HP:0002167	Abnormality of speech or vocalization	1523	CUX1	OMIM:618330
HP:0002167	Abnormality of speech or vocalization	120	ADD3	OMIM:617008
HP:0002167	Abnormality of speech or vocalization	4212	MEIS2	ORPHA:261190
HP:0002167	Abnormality of speech or vocalization	6443	SGCB	ORPHA:119
HP:0002167	Abnormality of speech or vocalization	5813	PURA	ORPHA:314655
HP:0002167	Abnormality of speech or vocalization	9949	AMMECR1	OMIM:300990
HP:0002167	Abnormality of speech or vocalization	57526	PCDH19	ORPHA:101039
HP:0002167	Abnormality of speech or vocalization	695	BTK	OMIM:300755
HP:0002167	Abnormality of speech or vocalization	6134	RPL10	OMIM:300998
HP:0002167	Abnormality of speech or vocalization	6134	RPL10	ORPHA:459070
HP:0002167	Abnormality of speech or vocalization	1281	COL3A1	OMIM:618343
HP:0002167	Abnormality of speech or vocalization	160418	TMTC3	OMIM:617255
HP:0002167	Abnormality of speech or vocalization	123606	NIPA1	ORPHA:261183
HP:0002167	Abnormality of speech or vocalization	7283	TUBG1	ORPHA:261183
HP:0002167	Abnormality of speech or vocalization	81614	NIPA2	ORPHA:261183
HP:0002167	Abnormality of speech or vocalization	54517	PUS7	OMIM:618342
HP:0002167	Abnormality of speech or vocalization	10765	KDM5B	OMIM:618109
HP:0002167	Abnormality of speech or vocalization	10785	WDR4	OMIM:618347
HP:0002167	Abnormality of speech or vocalization	4967	OGDH	OMIM:203740
HP:0002167	Abnormality of speech or vocalization	57122	NUP107	OMIM:618348
HP:0002167	Abnormality of speech or vocalization	57122	NUP107	OMIM:616730
HP:0002167	Abnormality of speech or vocalization	7681	MKRN3	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	3653	IPW	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	54551	MAGEL2	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	54551	MAGEL2	ORPHA:398069
HP:0002167	Abnormality of speech or vocalization	54551	MAGEL2	OMIM:615547
HP:0002167	Abnormality of speech or vocalization	791114	PWRN1	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	100033413	SNORD116-1	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	8924	HERC2	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	8924	HERC2	OMIM:615516
HP:0002167	Abnormality of speech or vocalization	145624	PWAR1	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	23742	NPAP1	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	338433	SNORD115-1	OMIM:176270
HP:0002167	Abnormality of speech or vocalization	5575	PRKAR1B	OMIM:619680
HP:0002167	Abnormality of speech or vocalization	5515	PPP2CA	OMIM:618354
HP:0002167	Abnormality of speech or vocalization	6096	RORB	OMIM:618357
HP:0002167	Abnormality of speech or vocalization	112755	STX1B	OMIM:616172
HP:0002167	Abnormality of speech or vocalization	116461	TSEN15	OMIM:617026
HP:0002167	Abnormality of speech or vocalization	55262	TRAPPC14	OMIM:618351
HP:0002167	Abnormality of speech or vocalization	6492	SIM1	ORPHA:171829
HP:0002167	Abnormality of speech or vocalization	6492	SIM1	ORPHA:398079
HP:0002167	Abnormality of speech or vocalization	23043	TNIK	OMIM:617028
HP:0002167	Abnormality of speech or vocalization	4784	NFIX	OMIM:602535
HP:0002167	Abnormality of speech or vocalization	4784	NFIX	ORPHA:447980
HP:0002167	Abnormality of speech or vocalization	4784	NFIX	OMIM:614753
HP:0002167	Abnormality of speech or vocalization	55250	ELP2	OMIM:617270
HP:0002167	Abnormality of speech or vocalization	84340	GFM2	ORPHA:565624
HP:0002167	Abnormality of speech or vocalization	84340	GFM2	OMIM:618397
HP:0002167	Abnormality of speech or vocalization	8888	MCM3AP	OMIM:618124
HP:0002167	Abnormality of speech or vocalization	10588	MTHFS	OMIM:618367
HP:0002167	Abnormality of speech or vocalization	2334	AFF2	OMIM:309548
HP:0002167	Abnormality of speech or vocalization	2334	AFF2	ORPHA:100973
HP:0002167	Abnormality of speech or vocalization	24140	FTSJ1	OMIM:309549
HP:0002167	Abnormality of speech or vocalization	6601	SMARCC2	OMIM:618362
HP:0002167	Abnormality of speech or vocalization	513	ATP5F1D	OMIM:618120
HP:0002167	Abnormality of speech or vocalization	92255	LMBRD2	OMIM:619694
HP:0002167	Abnormality of speech or vocalization	27341	RRP7A	OMIM:619453
HP:0002167	Abnormality of speech or vocalization	2019	EN1	OMIM:619218
HP:0002167	Abnormality of speech or vocalization	549	AUH	OMIM:250950
HP:0002167	Abnormality of speech or vocalization	549	AUH	ORPHA:67046
HP:0002167	Abnormality of speech or vocalization	5805	PTS	ORPHA:13
HP:0002167	Abnormality of speech or vocalization	80311	KLHL15	OMIM:300982
HP:0002167	Abnormality of speech or vocalization	2068	ERCC2	OMIM:601675
HP:0002167	Abnormality of speech or vocalization	1760	DMPK	ORPHA:589821
HP:0002167	Abnormality of speech or vocalization	7086	TKT	OMIM:617044
HP:0002167	Abnormality of speech or vocalization	7086	TKT	ORPHA:488618
HP:0002167	Abnormality of speech or vocalization	6390	SDHB	OMIM:619224
HP:0002167	Abnormality of speech or vocalization	84892	POMGNT2	OMIM:618135
HP:0002167	Abnormality of speech or vocalization	63931	MRPS14	OMIM:618378
HP:0002167	Abnormality of speech or vocalization	164	AP1G1	OMIM:619467
HP:0002167	Abnormality of speech or vocalization	164	AP1G1	OMIM:619548
HP:0002167	Abnormality of speech or vocalization	9758	FRMPD4	OMIM:300983
HP:0002167	Abnormality of speech or vocalization	7253	TSHR	OMIM:609152
HP:0002167	Abnormality of speech or vocalization	6304	SATB1	OMIM:619228
HP:0002167	Abnormality of speech or vocalization	6304	SATB1	OMIM:619229
HP:0002167	Abnormality of speech or vocalization	220296	HEPACAM	OMIM:613925
HP:0002167	Abnormality of speech or vocalization	220296	HEPACAM	OMIM:613926
HP:0002167	Abnormality of speech or vocalization	3028	HSD17B10	ORPHA:391428
HP:0002167	Abnormality of speech or vocalization	3028	HSD17B10	OMIM:300438
HP:0002167	Abnormality of speech or vocalization	50801	KCNK4	OMIM:618381
HP:0002167	Abnormality of speech or vocalization	84065	TMEM222	OMIM:619470
HP:0002167	Abnormality of speech or vocalization	55697	VAC14	OMIM:617054
HP:0002167	Abnormality of speech or vocalization	57498	KIDINS220	OMIM:617296
HP:0002167	Abnormality of speech or vocalization	8812	CCNK	OMIM:618147
HP:0002167	Abnormality of speech or vocalization	57187	THOC2	OMIM:300957
HP:0002167	Abnormality of speech or vocalization	57187	THOC2	ORPHA:457240
HP:0002167	Abnormality of speech or vocalization	9851	KIAA0753	OMIM:619479
HP:0002167	Abnormality of speech or vocalization	27107	ZBTB11	OMIM:618383
HP:0002167	Abnormality of speech or vocalization	2892	GRIA3	ORPHA:364028
HP:0002167	Abnormality of speech or vocalization	7737	RNF113A	OMIM:300953
HP:0002167	Abnormality of speech or vocalization	4361	MRE11	ORPHA:251347
HP:0002167	Abnormality of speech or vocalization	4361	MRE11	OMIM:604391
HP:0002167	Abnormality of speech or vocalization	8452	CUL3	OMIM:619239
HP:0002167	Abnormality of speech or vocalization	80036	TRPM3	OMIM:620224
HP:0002167	Abnormality of speech or vocalization	10283	CWC27	ORPHA:166035
HP:0002167	Abnormality of speech or vocalization	10283	CWC27	OMIM:250410
HP:0002167	Abnormality of speech or vocalization	388015	RTL1	ORPHA:96184
HP:0002167	Abnormality of speech or vocalization	388015	RTL1	ORPHA:254531
HP:0002167	Abnormality of speech or vocalization	388015	RTL1	ORPHA:254525
HP:0002167	Abnormality of speech or vocalization	8788	DLK1	ORPHA:96184
HP:0002167	Abnormality of speech or vocalization	8788	DLK1	ORPHA:254531
HP:0002167	Abnormality of speech or vocalization	8788	DLK1	ORPHA:254525
HP:0002167	Abnormality of speech or vocalization	55384	MEG3	ORPHA:96184
HP:0002167	Abnormality of speech or vocalization	55384	MEG3	ORPHA:254531
HP:0002167	Abnormality of speech or vocalization	55384	MEG3	ORPHA:254525
HP:0002167	Abnormality of speech or vocalization	11198	SUPT16H	OMIM:619480
HP:0002167	Abnormality of speech or vocalization	25839	COG4	OMIM:618150
HP:0002167	Abnormality of speech or vocalization	1457	CSNK2A1	OMIM:617062
HP:0002167	Abnormality of speech or vocalization	100147744	RNU7-1	OMIM:619487
HP:0002167	Abnormality of speech or vocalization	203068	TUBB	OMIM:156610
HP:0002167	Abnormality of speech or vocalization	203068	TUBB	OMIM:615771
HP:0002167	Abnormality of speech or vocalization	6872	TAF1	OMIM:300966
HP:0002167	Abnormality of speech or vocalization	6872	TAF1	ORPHA:480907
HP:0002167	Abnormality of speech or vocalization	8567	MADD	OMIM:619004
HP:0002167	Abnormality of speech or vocalization	8567	MADD	OMIM:619005
HP:0002167	Abnormality of speech or vocalization	8239	USP9X	OMIM:300968
HP:0002167	Abnormality of speech or vocalization	57477	SHROOM4	ORPHA:85288
HP:0002167	Abnormality of speech or vocalization	23067	SETD1B	OMIM:619000
HP:0002167	Abnormality of speech or vocalization	23112	TNRC6B	OMIM:619243
HP:0002167	Abnormality of speech or vocalization	91875	TTC5	OMIM:619244
HP:0002167	Abnormality of speech or vocalization	9373	PLAA	ORPHA:521426
HP:0002167	Abnormality of speech or vocalization	10681	GNB5	ORPHA:542306
HP:0002167	Abnormality of speech or vocalization	10681	GNB5	OMIM:617173
HP:0002167	Abnormality of speech or vocalization	10681	GNB5	OMIM:617182
HP:0002167	Abnormality of speech or vocalization	5625	PRODH	OMIM:239500
HP:0002167	Abnormality of speech or vocalization	2799	GNS	OMIM:252940
HP:0002167	Abnormality of speech or vocalization	23387	SIK3	OMIM:618162
HP:0002167	Abnormality of speech or vocalization	8242	KDM5C	ORPHA:85279
HP:0002167	Abnormality of speech or vocalization	8242	KDM5C	OMIM:300534
HP:0002167	Abnormality of speech or vocalization	1315	COPB1	OMIM:619255
HP:0002167	Abnormality of speech or vocalization	81615	TMEM163	OMIM:620243
HP:0002167	Abnormality of speech or vocalization	2801	GOLGA2	OMIM:620240
HP:0002167	Abnormality of speech or vocalization	284361	EMC10	OMIM:619264
HP:0002167	Abnormality of speech or vocalization	170302	ARX	OMIM:309510
HP:0002167	Abnormality of speech or vocalization	170302	ARX	ORPHA:94083
HP:0002167	Abnormality of speech or vocalization	8398	PLA2G6	OMIM:610217
HP:0002167	Abnormality of speech or vocalization	8398	PLA2G6	OMIM:256600
HP:0002167	Abnormality of speech or vocalization	8398	PLA2G6	ORPHA:35069
HP:0002167	Abnormality of speech or vocalization	55294	FBXW7	OMIM:620012
HP:0002167	Abnormality of speech or vocalization	9131	AIFM1	ORPHA:238329
HP:0002167	Abnormality of speech or vocalization	6095	RORA	OMIM:618060
HP:0002167	Abnormality of speech or vocalization	5138	PDE2A	OMIM:619150
HP:0002167	Abnormality of speech or vocalization	6535	SLC6A8	OMIM:300352
HP:0002167	Abnormality of speech or vocalization	6535	SLC6A8	ORPHA:52503
HP:0002167	Abnormality of speech or vocalization	26960	NBEA	OMIM:619157
HP:0002167	Abnormality of speech or vocalization	23241	PACS2	OMIM:618067
HP:0002167	Abnormality of speech or vocalization	10466	COG5	OMIM:613612
HP:0002167	Abnormality of speech or vocalization	10466	COG5	ORPHA:263487
HP:0002167	Abnormality of speech or vocalization	123263	MTFMT	OMIM:614947
HP:0002167	Abnormality of speech or vocalization	340990	OTOG	OMIM:614945
HP:0002167	Abnormality of speech or vocalization	51343	FZR1	OMIM:620145
HP:0002167	Abnormality of speech or vocalization	51343	FZR1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	10093	ARPC4	OMIM:620141
HP:0002167	Abnormality of speech or vocalization	5447	POR	ORPHA:95699
HP:0002167	Abnormality of speech or vocalization	80232	WDR26	ORPHA:513456
HP:0002167	Abnormality of speech or vocalization	3199	HOXA2	ORPHA:83463
HP:0002167	Abnormality of speech or vocalization	4010	LMX1B	ORPHA:495818
HP:0002167	Abnormality of speech or vocalization	6812	STXBP1	ORPHA:495818
HP:0002167	Abnormality of speech or vocalization	80055	PGAP1	OMIM:615802
HP:0002167	Abnormality of speech or vocalization	55780	ERMARD	ORPHA:75857
HP:0002167	Abnormality of speech or vocalization	55780	ERMARD	OMIM:615544
HP:0002167	Abnormality of speech or vocalization	9382	COG1	OMIM:611209
HP:0002167	Abnormality of speech or vocalization	8913	CACNA1G	OMIM:618087
HP:0002167	Abnormality of speech or vocalization	80204	FBXO11	OMIM:618089
HP:0002167	Abnormality of speech or vocalization	80254	CEP63	OMIM:614728
HP:0002167	Abnormality of speech or vocalization	23325	WASHC4	OMIM:615817
HP:0002167	Abnormality of speech or vocalization	56984	PSMG2	OMIM:619183
HP:0002167	Abnormality of speech or vocalization	57531	HACE1	ORPHA:464282
HP:0002167	Abnormality of speech or vocalization	80856	LNPK	OMIM:618090
HP:0002167	Abnormality of speech or vocalization	84823	LMNB2	OMIM:619180
HP:0002167	Abnormality of speech or vocalization	64919	BCL11B	OMIM:618092
HP:0002167	Abnormality of speech or vocalization	23036	ZNF292	OMIM:619188
HP:0002167	Abnormality of speech or vocalization	54872	PIGG	OMIM:616917
HP:0002167	Abnormality of speech or vocalization	54872	PIGG	ORPHA:488635
HP:0002167	Abnormality of speech or vocalization	25942	SIN3A	OMIM:613406
HP:0002167	Abnormality of speech or vocalization	3192	HNRNPU	ORPHA:238769
HP:0002167	Abnormality of speech or vocalization	9653	HS2ST1	OMIM:619194
HP:0002167	Abnormality of speech or vocalization	1798	DPAGT1	ORPHA:86309
HP:0002167	Abnormality of speech or vocalization	10841	FTCD	ORPHA:51208
HP:0002167	Abnormality of speech or vocalization	26053	AUTS2	OMIM:615834
HP:0002167	Abnormality of speech or vocalization	26053	AUTS2	ORPHA:352490
HP:0002167	Abnormality of speech or vocalization	3211	HOXB1	OMIM:614744
HP:0002167	Abnormality of speech or vocalization	6507	SLC1A3	ORPHA:2131
HP:0002167	Abnormality of speech or vocalization	84720	PIGO	OMIM:614749
HP:0002167	Abnormality of speech or vocalization	8085	KMT2D	OMIM:620186
HP:0002167	Abnormality of speech or vocalization	283209	PGM2L1	OMIM:620191
HP:0002167	Abnormality of speech or vocalization	79228	THOC6	ORPHA:363444
HP:0002167	Abnormality of speech or vocalization	2316	FLNA	OMIM:300321
HP:0002167	Abnormality of speech or vocalization	23522	KAT6B	ORPHA:85201
HP:0002167	Abnormality of speech or vocalization	182	JAG1	OMIM:118450
HP:0002167	Abnormality of speech or vocalization	10472	ZBTB18	OMIM:612337
HP:0002167	Abnormality of speech or vocalization	34	ACADM	ORPHA:42
HP:0002167	Abnormality of speech or vocalization	27086	FOXP1	OMIM:613670
HP:0002167	Abnormality of speech or vocalization	27086	FOXP1	ORPHA:391372
HP:0002167	Abnormality of speech or vocalization	55149	MTPAP	OMIM:613672
HP:0002167	Abnormality of speech or vocalization	10815	CPLX1	ORPHA:352582
HP:0002167	Abnormality of speech or vocalization	57465	TBC1D24	ORPHA:352582
HP:0002167	Abnormality of speech or vocalization	6509	SLC1A4	ORPHA:447997
HP:0002167	Abnormality of speech or vocalization	226	ALDOA	ORPHA:57
HP:0002167	Abnormality of speech or vocalization	6567	SLC16A2	ORPHA:59
HP:0002167	Abnormality of speech or vocalization	22907	DHX30	OMIM:617804
HP:0002167	Abnormality of speech or vocalization	196528	ARID2	OMIM:617808
HP:0002167	Abnormality of speech or vocalization	10075	HUWE1	OMIM:309590
HP:0002167	Abnormality of speech or vocalization	6513	SLC2A1	ORPHA:71277
HP:0002167	Abnormality of speech or vocalization	6513	SLC2A1	OMIM:606777
HP:0002167	Abnormality of speech or vocalization	6513	SLC2A1	ORPHA:1942
HP:0002167	Abnormality of speech or vocalization	124997	WDR81	OMIM:610185
HP:0002167	Abnormality of speech or vocalization	8733	GPAA1	OMIM:617810
HP:0002167	Abnormality of speech or vocalization	8733	GPAA1	ORPHA:529665
HP:0002167	Abnormality of speech or vocalization	89891	DYNC2I2	OMIM:615633
HP:0002167	Abnormality of speech or vocalization	11133	KPTN	OMIM:615637
HP:0002167	Abnormality of speech or vocalization	11133	KPTN	ORPHA:397612
HP:0002167	Abnormality of speech or vocalization	6334	SCN8A	OMIM:614306
HP:0002167	Abnormality of speech or vocalization	6334	SCN8A	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	89970	RSPRY1	OMIM:616723
HP:0002167	Abnormality of speech or vocalization	23028	KDM1A	OMIM:616728
HP:0002167	Abnormality of speech or vocalization	23028	KDM1A	ORPHA:477993
HP:0002167	Abnormality of speech or vocalization	26115	TANC2	OMIM:618906
HP:0002167	Abnormality of speech or vocalization	3981	LIG4	OMIM:606593
HP:0002167	Abnormality of speech or vocalization	1806	DPYD	OMIM:274270
HP:0002167	Abnormality of speech or vocalization	1806	DPYD	ORPHA:293948
HP:0002167	Abnormality of speech or vocalization	23291	FBXW11	OMIM:618914
HP:0002167	Abnormality of speech or vocalization	2782	GNB1	OMIM:616973
HP:0002167	Abnormality of speech or vocalization	3097	HIVEP2	OMIM:616977
HP:0002167	Abnormality of speech or vocalization	10982	MAPRE2	OMIM:616734
HP:0002167	Abnormality of speech or vocalization	3176	HNMT	OMIM:616739
HP:0002167	Abnormality of speech or vocalization	2891	GRIA2	OMIM:618917
HP:0002167	Abnormality of speech or vocalization	4131	MAP1B	OMIM:618918
HP:0002167	Abnormality of speech or vocalization	84679	SLC9A7	OMIM:301024
HP:0002167	Abnormality of speech or vocalization	63035	BCORL1	OMIM:301029
HP:0002167	Abnormality of speech or vocalization	85358	SHANK3	ORPHA:48652
HP:0002167	Abnormality of speech or vocalization	85358	SHANK3	OMIM:606232
HP:0002167	Abnormality of speech or vocalization	79947	DHDDS	OMIM:617836
HP:0002167	Abnormality of speech or vocalization	79947	DHDDS	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	91137	SLC25A46	OMIM:616505
HP:0002167	Abnormality of speech or vocalization	6678	SPARC	OMIM:616507
HP:0002167	Abnormality of speech or vocalization	10943	MSL3	OMIM:301032
HP:0002167	Abnormality of speech or vocalization	4041	LRP5	ORPHA:2788
HP:0002167	Abnormality of speech or vocalization	56479	KCNQ5	OMIM:617601
HP:0002167	Abnormality of speech or vocalization	128637	TBC1D20	OMIM:615663
HP:0002167	Abnormality of speech or vocalization	9343	EFTUD2	ORPHA:79113
HP:0002167	Abnormality of speech or vocalization	9343	EFTUD2	OMIM:610536
HP:0002167	Abnormality of speech or vocalization	10664	CTCF	ORPHA:363611
HP:0002167	Abnormality of speech or vocalization	10367	MICU1	OMIM:615673
HP:0002167	Abnormality of speech or vocalization	8270	LAGE3	OMIM:301006
HP:0002167	Abnormality of speech or vocalization	22866	CNKSR2	OMIM:301008
HP:0002167	Abnormality of speech or vocalization	22866	CNKSR2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	1861	TOR1A	OMIM:618947
HP:0002167	Abnormality of speech or vocalization	79853	TM4SF20	OMIM:615432
HP:0002167	Abnormality of speech or vocalization	117581	TWIST2	OMIM:209885
HP:0002167	Abnormality of speech or vocalization	117581	TWIST2	OMIM:200110
HP:0002167	Abnormality of speech or vocalization	117581	TWIST2	ORPHA:920
HP:0002167	Abnormality of speech or vocalization	23040	MYT1L	OMIM:616521
HP:0002167	Abnormality of speech or vocalization	8936	WASF1	OMIM:618707
HP:0002167	Abnormality of speech or vocalization	6697	SPR	ORPHA:70594
HP:0002167	Abnormality of speech or vocalization	26503	SLC17A5	OMIM:604369
HP:0002167	Abnormality of speech or vocalization	80210	ARMC9	OMIM:617622
HP:0002167	Abnormality of speech or vocalization	81562	LMAN2L	OMIM:617863
HP:0002167	Abnormality of speech or vocalization	84628	NTNG2	OMIM:618718
HP:0002167	Abnormality of speech or vocalization	259266	ASPM	OMIM:608716
HP:0002167	Abnormality of speech or vocalization	54888	NSUN2	OMIM:611091
HP:0002167	Abnormality of speech or vocalization	54802	TRIT1	OMIM:617873
HP:0002167	Abnormality of speech or vocalization	4763	NF1	ORPHA:139474
HP:0002167	Abnormality of speech or vocalization	4763	NF1	OMIM:601321
HP:0002167	Abnormality of speech or vocalization	10274	STAG1	OMIM:617635
HP:0002167	Abnormality of speech or vocalization	51317	PHF21A	OMIM:618725
HP:0002167	Abnormality of speech or vocalization	2806	GOT2	OMIM:618721
HP:0002167	Abnormality of speech or vocalization	1788	DNMT3A	OMIM:618724
HP:0002167	Abnormality of speech or vocalization	3778	KCNMA1	OMIM:618729
HP:0002167	Abnormality of speech or vocalization	3778	KCNMA1	OMIM:617643
HP:0002167	Abnormality of speech or vocalization	5573	PRKAR1A	ORPHA:280651
HP:0002167	Abnormality of speech or vocalization	5144	PDE4D	ORPHA:280651
HP:0002167	Abnormality of speech or vocalization	5144	PDE4D	OMIM:614613
HP:0002167	Abnormality of speech or vocalization	2182	ACSL4	OMIM:300387
HP:0002167	Abnormality of speech or vocalization	9699	RIMS2	OMIM:618970
HP:0002167	Abnormality of speech or vocalization	672	BRCA1	OMIM:617883
HP:0002167	Abnormality of speech or vocalization	5087	PBX1	OMIM:617641
HP:0002167	Abnormality of speech or vocalization	84148	KAT8	OMIM:618974
HP:0002167	Abnormality of speech or vocalization	27034	ACAD8	ORPHA:79159
HP:0002167	Abnormality of speech or vocalization	7528	YY1	ORPHA:506358
HP:0002167	Abnormality of speech or vocalization	7528	YY1	OMIM:617557
HP:0002167	Abnormality of speech or vocalization	8367	H4C5	OMIM:619950
HP:0002167	Abnormality of speech or vocalization	91452	ACBD5	OMIM:618863
HP:0002167	Abnormality of speech or vocalization	9853	RUSC2	OMIM:617773
HP:0002167	Abnormality of speech or vocalization	9524	TECR	OMIM:614020
HP:0002167	Abnormality of speech or vocalization	4750	NEK1	OMIM:263520
HP:0002167	Abnormality of speech or vocalization	23446	SLC44A1	OMIM:618868
HP:0002167	Abnormality of speech or vocalization	10054	UBA2	OMIM:619959
HP:0002167	Abnormality of speech or vocalization	3703	STT3A	OMIM:619714
HP:0002167	Abnormality of speech or vocalization	116931	MED12L	OMIM:618872
HP:0002167	Abnormality of speech or vocalization	3020	H3-3A	OMIM:619720
HP:0002167	Abnormality of speech or vocalization	7552	ZNF711	OMIM:300803
HP:0002167	Abnormality of speech or vocalization	1630	DCC	OMIM:617542
HP:0002167	Abnormality of speech or vocalization	51111	KMT5B	OMIM:617788
HP:0002167	Abnormality of speech or vocalization	80155	NAA15	OMIM:617787
HP:0002167	Abnormality of speech or vocalization	10501	SEMA6B	OMIM:618876
HP:0002167	Abnormality of speech or vocalization	8309	ACOX2	OMIM:617308
HP:0002167	Abnormality of speech or vocalization	57156	TMEM63C	OMIM:619966
HP:0002167	Abnormality of speech or vocalization	28960	DCPS	OMIM:616459
HP:0002167	Abnormality of speech or vocalization	27102	EIF2AK1	OMIM:618878
HP:0002167	Abnormality of speech or vocalization	3781	KCNN2	OMIM:619725
HP:0002167	Abnormality of speech or vocalization	5189	PEX1	OMIM:214100
HP:0002167	Abnormality of speech or vocalization	5189	PEX1	OMIM:601539
HP:0002167	Abnormality of speech or vocalization	6660	SOX5	ORPHA:313892
HP:0002167	Abnormality of speech or vocalization	6660	SOX5	OMIM:616803
HP:0002167	Abnormality of speech or vocalization	137492	VPS37A	ORPHA:319199
HP:0002167	Abnormality of speech or vocalization	137492	VPS37A	OMIM:614898
HP:0002167	Abnormality of speech or vocalization	83696	TRAPPC9	OMIM:613192
HP:0002167	Abnormality of speech or vocalization	129685	TAF8	OMIM:619972
HP:0002167	Abnormality of speech or vocalization	2590	GALNT2	OMIM:618885
HP:0002167	Abnormality of speech or vocalization	55870	ASH1L	OMIM:617796
HP:0002167	Abnormality of speech or vocalization	535	ATP6V0A1	OMIM:619970
HP:0002167	Abnormality of speech or vocalization	816	CAMK2B	OMIM:617799
HP:0002167	Abnormality of speech or vocalization	815	CAMK2A	OMIM:617798
HP:0002167	Abnormality of speech or vocalization	23184	MESD	OMIM:618644
HP:0002167	Abnormality of speech or vocalization	51319	RSRC1	OMIM:618402
HP:0002167	Abnormality of speech or vocalization	8560	DEGS1	OMIM:618404
HP:0002167	Abnormality of speech or vocalization	10715	CERS1	OMIM:616230
HP:0002167	Abnormality of speech or vocalization	1656	DDX6	OMIM:618653
HP:0002167	Abnormality of speech or vocalization	2744	GLS	OMIM:618412
HP:0002167	Abnormality of speech or vocalization	5442	POLRMT	OMIM:619743
HP:0002167	Abnormality of speech or vocalization	6712	SPTBN2	OMIM:615386
HP:0002167	Abnormality of speech or vocalization	6712	SPTBN2	ORPHA:352403
HP:0002167	Abnormality of speech or vocalization	4297	KMT2A	ORPHA:319182
HP:0002167	Abnormality of speech or vocalization	4297	KMT2A	OMIM:605130
HP:0002167	Abnormality of speech or vocalization	55714	TENM3	OMIM:615145
HP:0002167	Abnormality of speech or vocalization	83636	C19orf12	OMIM:614298
HP:0002167	Abnormality of speech or vocalization	833	CARS1	OMIM:618891
HP:0002167	Abnormality of speech or vocalization	57178	ZMIZ1	OMIM:618659
HP:0002167	Abnormality of speech or vocalization	2783	GNB2	OMIM:619503
HP:0002167	Abnormality of speech or vocalization	26057	ANKRD17	OMIM:619504
HP:0002167	Abnormality of speech or vocalization	3737	KCNA2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	1759	DNM1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	8120	AP3B2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	10991	SLC38A3	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	22906	TRAK1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	2566	GABRG2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	1917	EEF1A2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	1917	EEF1A2	OMIM:616409
HP:0002167	Abnormality of speech or vocalization	2561	GABRB2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	7532	YWHAG	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	79876	UBA5	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	6328	SCN3A	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	6328	SCN3A	OMIM:617935
HP:0002167	Abnormality of speech or vocalization	2558	GABRA5	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	781	CACNA2D1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	2906	GRIN2D	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	10659	CELF2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	10659	CELF2	OMIM:619561
HP:0002167	Abnormality of speech or vocalization	774	CACNA1B	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	1213	CLTC	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	51741	WWOX	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	51741	WWOX	ORPHA:284282
HP:0002167	Abnormality of speech or vocalization	23334	SZT2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	51412	ACTL6B	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	348980	HCN1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	348980	HCN1	OMIM:618482
HP:0002167	Abnormality of speech or vocalization	6506	SLC1A2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	8867	SYNJ1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	2258	FGF13	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	3745	KCNB1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	284111	SLC13A5	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	25977	NECAP1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	16	AARS1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	2555	GABRA2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	55152	DALRD3	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	26999	CYFIP2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	4915	NTRK2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	25973	PARS2	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	23097	CDK19	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	64801	ARV1	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	5530	PPP3CA	ORPHA:442835
HP:0002167	Abnormality of speech or vocalization	55623	THUMPD1	OMIM:619989
HP:0002167	Abnormality of speech or vocalization	284439	SLC25A42	OMIM:618416
HP:0002167	Abnormality of speech or vocalization	253738	EBF3	OMIM:617330
HP:0002167	Abnormality of speech or vocalization	56006	SMG9	OMIM:619995
HP:0002167	Abnormality of speech or vocalization	1182	CLCN3	OMIM:619512
HP:0002167	Abnormality of speech or vocalization	29081	METTL5	OMIM:618665
HP:0002167	Abnormality of speech or vocalization	7862	BRPF1	OMIM:617333
HP:0002167	Abnormality of speech or vocalization	54914	FOCAD	OMIM:619991
HP:0002167	Abnormality of speech or vocalization	8363	H4C11	OMIM:619759
HP:0002167	Abnormality of speech or vocalization	7701	ZNF142	OMIM:618425
HP:0002167	Abnormality of speech or vocalization	8659	ALDH4A1	ORPHA:79101
HP:0002167	Abnormality of speech or vocalization	26137	ZBTB20	OMIM:259050
HP:0002167	Abnormality of speech or vocalization	10021	HCN4	OMIM:619521
HP:0002167	Abnormality of speech or vocalization	7750	ZMYM2	OMIM:619522
HP:0002167	Abnormality of speech or vocalization	6942	TCF20	OMIM:618430
HP:0002167	Abnormality of speech or vocalization	2720	GLB1	OMIM:230650
HP:0002167	Abnormality of speech or vocalization	256471	MFSD8	OMIM:610951
HP:0002167	Abnormality of speech or vocalization	51341	ZBTB7A	OMIM:619769
HP:0002167	Abnormality of speech or vocalization	9338	TCEAL1	OMIM:301094
HP:0002167	Abnormality of speech or vocalization	7030	TFE3	OMIM:301066
HP:0002167	Abnormality of speech or vocalization	4123	MAN2C1	OMIM:619775
HP:0002167	Abnormality of speech or vocalization	54941	RNF125	OMIM:616260
HP:0002167	Abnormality of speech or vocalization	85365	ALG2	OMIM:607906
HP:0002167	Abnormality of speech or vocalization	10463	SLC30A9	OMIM:617595
HP:0002167	Abnormality of speech or vocalization	57479	PRR12	OMIM:619539
HP:0002167	Abnormality of speech or vocalization	79087	ALG12	ORPHA:79324
HP:0002167	Abnormality of speech or vocalization	1173	AP2M1	ORPHA:1942
HP:0002167	Abnormality of speech or vocalization	1106	CHD2	ORPHA:1942
HP:0002167	Abnormality of speech or vocalization	6529	SLC6A1	ORPHA:1942
HP:0002167	Abnormality of speech or vocalization	25981	DNAH1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	115948	ODAD3	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	54768	HYDIN	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	352909	DNAAF3	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	27148	STK36	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	51314	NME8	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	92749	DRC1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	54970	TTC12	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	152110	NEK10	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	8481	OFD1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	2302	FOXJ1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	221421	RSPH9	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	85478	CCDC65	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	55036	CCDC40	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	51364	ZMYND10	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	64446	DNAI2	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	6674	SPAG1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	83544	DNAL1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	89765	RSPH1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	83538	ODAD4	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	200373	CFAP221	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	374407	DNAJB13	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	55172	DNAAF2	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	2622	GAS8	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	23639	DNAAF11	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	27019	DNAI1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	345895	RSPH4A	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	54919	DNAAF5	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	6103	RPGR	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	388389	CCDC103	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	93233	ODAD1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	55130	ODAD2	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	1767	DNAH5	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	83861	RSPH3	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	345643	MCIDAS	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	56683	CFAP298	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	79925	SPEF2	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	10309	CCNO	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	115399	LRRC56	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	139212	DNAAF6	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	123872	DNAAF1	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	85016	CFAP300	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	339829	CCDC39	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	8701	DNAH11	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	1770	DNAH9	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	246176	GAS2L2	ORPHA:244
HP:0002167	Abnormality of speech or vocalization	10262	SF3B4	ORPHA:245
HP:0002167	Abnormality of speech or vocalization	10262	SF3B4	OMIM:154400
HP:0002167	Abnormality of speech or vocalization	2742	GLRA2	OMIM:301076
HP:0002167	Abnormality of speech or vocalization	8621	CDK13	OMIM:617360
HP:0002167	Abnormality of speech or vocalization	5256	PHKA2	ORPHA:264580
HP:0002167	Abnormality of speech or vocalization	5261	PHKG2	ORPHA:264580
HP:0002167	Abnormality of speech or vocalization	5587	PRKD1	OMIM:617364
HP:0002167	Abnormality of speech or vocalization	55217	TMLHE	OMIM:300872
HP:0002167	Abnormality of speech or vocalization	5898	RALA	OMIM:619311
HP:0002167	Abnormality of speech or vocalization	9759	HDAC4	OMIM:619797
HP:0002167	Abnormality of speech or vocalization	9759	HDAC4	OMIM:600430
HP:0002167	Abnormality of speech or vocalization	30000	TNPO2	OMIM:619556
HP:0002167	Abnormality of speech or vocalization	6477	SIAH1	OMIM:619314
HP:0002167	Abnormality of speech or vocalization	57102	C12orf4	OMIM:618221
HP:0002167	Abnormality of speech or vocalization	51728	POLR3K	OMIM:619310
HP:0002167	Abnormality of speech or vocalization	55628	ZNF407	OMIM:619557
HP:0002167	Abnormality of speech or vocalization	9256	TSPOAP1	ORPHA:101150
HP:0002167	Abnormality of speech or vocalization	1387	CREBBP	ORPHA:353281
HP:0002167	Abnormality of speech or vocalization	1387	CREBBP	OMIM:180849
HP:0002167	Abnormality of speech or vocalization	1387	CREBBP	ORPHA:353277
HP:0002167	Abnormality of speech or vocalization	56521	DNAJC12	OMIM:617384
HP:0002167	Abnormality of speech or vocalization	3714	JAG2	OMIM:619566
HP:0002167	Abnormality of speech or vocalization	10978	CLP1	ORPHA:411493
HP:0002167	Abnormality of speech or vocalization	23030	KDM4B	OMIM:619320
HP:0002167	Abnormality of speech or vocalization	5010	CLDN11	OMIM:619328
HP:0002167	Abnormality of speech or vocalization	1725	DHPS	OMIM:618480
HP:0002167	Abnormality of speech or vocalization	1741	DLG3	OMIM:300850
HP:0002167	Abnormality of speech or vocalization	57551	TAOK1	OMIM:619575
HP:0002167	Abnormality of speech or vocalization	25929	GEMIN5	OMIM:619333
HP:0002167	Abnormality of speech or vocalization	79641	ROGDI	OMIM:226750
HP:0002167	Abnormality of speech or vocalization	54496	PRMT7	OMIM:617157
HP:0002167	Abnormality of speech or vocalization	9969	MED13	OMIM:618009
HP:0002167	Abnormality of speech or vocalization	92344	GORAB	OMIM:231070
HP:0002167	Abnormality of speech or vocalization	10157	AASS	OMIM:238700
HP:0002167	Abnormality of speech or vocalization	10157	AASS	ORPHA:2203
HP:0002167	Abnormality of speech or vocalization	23203	PMPCA	OMIM:213200
HP:0002167	Abnormality of speech or vocalization	23203	PMPCA	ORPHA:1170
HP:0002167	Abnormality of speech or vocalization	2898	GRIK2	OMIM:619580
HP:0002167	Abnormality of speech or vocalization	1781	DYNC1I2	OMIM:618492
HP:0002167	Abnormality of speech or vocalization	9496	TBX4	ORPHA:261279
HP:0002167	Abnormality of speech or vocalization	8091	HMGA2	ORPHA:94063
HP:0002167	Abnormality of speech or vocalization	8091	HMGA2	ORPHA:397590
HP:0002167	Abnormality of speech or vocalization	23592	LEMD3	ORPHA:94063
HP:0002167	Abnormality of speech or vocalization	23594	ORC6	OMIM:613803
HP:0002167	Abnormality of speech or vocalization	1756	DMD	ORPHA:98896
HP:0002167	Abnormality of speech or vocalization	8425	LTBP4	ORPHA:98896
HP:0002167	Abnormality of speech or vocalization	80185	TTI2	ORPHA:391307
HP:0002167	Abnormality of speech or vocalization	80185	TTI2	OMIM:615541
HP:0002167	Abnormality of speech or vocalization	2628	GATM	OMIM:612718
HP:0002167	Abnormality of speech or vocalization	10771	ZMYND11	OMIM:616083
HP:0002167	Abnormality of speech or vocalization	6611	SMS	ORPHA:3063
HP:0002167	Abnormality of speech or vocalization	7068	THRB	OMIM:188570
HP:0002167	Abnormality of speech or vocalization	5977	DPF2	OMIM:618027
HP:0002167	Abnormality of speech or vocalization	35	ACADS	OMIM:201470
HP:0002167	Abnormality of speech or vocalization	35	ACADS	ORPHA:26792
HP:0002167	Abnormality of speech or vocalization	55526	DHTKD1	OMIM:204750
HP:0002167	Abnormality of speech or vocalization	3839	KPNA3	OMIM:620106
HP:0002167	Abnormality of speech or vocalization	79005	SCNM1	OMIM:620107
HP:0002167	Abnormality of speech or vocalization	2077	ERF	OMIM:617180
HP:0002167	Abnormality of speech or vocalization	2077	ERF	OMIM:600775
HP:0002167	Abnormality of speech or vocalization	90522	YIF1B	OMIM:619125
HP:0002167	Abnormality of speech or vocalization	29123	ANKRD11	ORPHA:261250
HP:0002167	Abnormality of speech or vocalization	118924	FRA10AC1	OMIM:620113
HP:0002167	Abnormality of speech or vocalization	55252	ASXL2	OMIM:617190
HP:0002167	Abnormality of speech or vocalization	3739	KCNA4	OMIM:618284
HP:0002167	Abnormality of speech or vocalization	23154	NCDN	OMIM:619373
HP:0002167	Abnormality of speech or vocalization	4781	NFIB	OMIM:618286
HP:0002167	Abnormality of speech or vocalization	55074	OXR1	OMIM:213000
HP:0002167	Abnormality of speech or vocalization	11011	TLK2	OMIM:618050
HP:0002167	Abnormality of speech or vocalization	8665	EIF3F	OMIM:618295
HP:0002167	Abnormality of speech or vocalization	221927	BRAT1	OMIM:618056
HP:0002167	Abnormality of speech or vocalization	161742	SPRED1	ORPHA:137605
HP:0002167	Abnormality of speech or vocalization	64858	DCLRE1B	OMIM:620133
HP:0002167	Abnormality of speech or vocalization	9325	TRIP4	ORPHA:486815
HP:0002167	Abnormality of speech or vocalization	11113	CIT	OMIM:617090
HP:0002167	Abnormality of speech or vocalization	4702	NDUFA8	OMIM:619272
HP:0002167	Abnormality of speech or vocalization	27183	VPS4A	OMIM:619273
HP:0002167	Abnormality of speech or vocalization	158	ADSL	OMIM:103050
HP:0002167	Abnormality of speech or vocalization	375	ARF1	OMIM:618185
HP:0002167	Abnormality of speech or vocalization	23019	CNOT1	OMIM:619033
HP:0002167	Abnormality of speech or vocalization	55503	TRPV6	OMIM:618188
HP:0002167	Abnormality of speech or vocalization	775	CACNA1C	OMIM:620029
HP:0002167	Abnormality of speech or vocalization	55777	MBD5	ORPHA:228402
HP:0002167	Abnormality of speech or vocalization	132158	GLYCTK	ORPHA:941
HP:0002167	Abnormality of speech or vocalization	501	ALDH7A1	OMIM:266100
HP:0002167	Abnormality of speech or vocalization	9442	MED27	OMIM:619286
HP:0002167	Abnormality of speech or vocalization	4649	MYO9A	OMIM:618198
HP:0002167	Abnormality of speech or vocalization	7102	TSPAN7	OMIM:300210
HP:0002167	Abnormality of speech or vocalization	116228	COX20	OMIM:619054
HP:0002167	Abnormality of speech or vocalization	26277	TINF2	OMIM:613990
HP:0002167	Abnormality of speech or vocalization	9739	SETD1A	OMIM:619056
HP:0002167	Abnormality of speech or vocalization	340024	SLC6A19	OMIM:234500
HP:0002167	Abnormality of speech or vocalization	8289	ARID1A	OMIM:614607
HP:0002167	Abnormality of speech or vocalization	10716	TBR1	OMIM:606053
HP:0002167	Abnormality of speech or vocalization	4697	NDUFA4	OMIM:619065
HP:0002167	Abnormality of speech or vocalization	5230	PGK1	ORPHA:713
HP:0002167	Abnormality of speech or vocalization	5230	PGK1	OMIM:300653
HP:0002167	Abnormality of speech or vocalization	7915	ALDH5A1	OMIM:271980
HP:0002167	Abnormality of speech or vocalization	2697	GJA1	OMIM:257850
HP:0002167	Abnormality of speech or vocalization	2615	LRRC32	OMIM:619074
HP:0002167	Abnormality of speech or vocalization	22859	ADGRL1	OMIM:620065
HP:0002167	Abnormality of speech or vocalization	6558	SLC12A2	OMIM:619083
HP:0002167	Abnormality of speech or vocalization	58508	KMT2C	ORPHA:261652
HP:0002167	Abnormality of speech or vocalization	58508	KMT2C	OMIM:617768
HP:0002167	Abnormality of speech or vocalization	5594	MAPK1	OMIM:619087
HP:0002167	Abnormality of speech or vocalization	3481	IGF2	ORPHA:397590
HP:0002167	Abnormality of speech or vocalization	1028	CDKN1C	ORPHA:397590
HP:0002167	Abnormality of speech or vocalization	5324	PLAG1	ORPHA:397590
HP:0002167	Abnormality of speech or vocalization	284217	LAMA1	OMIM:615960
HP:0002167	Abnormality of speech or vocalization	284217	LAMA1	ORPHA:370022
HP:0002167	Abnormality of speech or vocalization	286262	TPRN	OMIM:613307
HP:0002167	Abnormality of speech or vocalization	51244	CCDC174	OMIM:616816
HP:0002167	Abnormality of speech or vocalization	54862	CC2D1A	OMIM:608443
HP:0002167	Abnormality of speech or vocalization	23065	EMC1	ORPHA:480898
HP:0002167	Abnormality of speech or vocalization	23065	EMC1	OMIM:616875
HP:0002167	Abnormality of speech or vocalization	10430	TMEM147	OMIM:620075
HP:0002167	Abnormality of speech or vocalization	4677	NARS1	OMIM:619091
HP:0002167	Abnormality of speech or vocalization	4677	NARS1	OMIM:619092
HP:0002167	Abnormality of speech or vocalization	50484	RRM2B	OMIM:268315
HP:0002167	Abnormality of speech or vocalization	254065	BRWD3	OMIM:300659
HP:0002167	Abnormality of speech or vocalization	9147	NEMF	OMIM:619099
HP:0002167	Abnormality of speech or vocalization	1384	CRAT	OMIM:617917
HP:0002167	Abnormality of speech or vocalization	85021	REPS1	OMIM:617916
HP:0002167	Abnormality of speech or vocalization	1487	CTBP1	OMIM:617915
HP:0002167	Abnormality of speech or vocalization	197322	ACSF3	ORPHA:289504
HP:0002167	Abnormality of speech or vocalization	54413	NLGN3	OMIM:300425
HP:0002167	Abnormality of speech or vocalization	9775	EIF4A3	OMIM:268305
HP:0002167	Abnormality of speech or vocalization	93183	PIGM	OMIM:610293
HP:0002167	Abnormality of speech or vocalization	2702	GJA5	OMIM:612474
HP:0002167	Abnormality of speech or vocalization	2703	GJA8	OMIM:612474
HP:0002167	Abnormality of speech or vocalization	29072	SETD2	OMIM:616831
HP:0002167	Abnormality of speech or vocalization	51053	GMNN	OMIM:616835
HP:0002167	Abnormality of speech or vocalization	27152	INTU	OMIM:617926
HP:0002167	Abnormality of speech or vocalization	274	BIN1	ORPHA:169186
HP:0002167	Abnormality of speech or vocalization	10290	SPEG	ORPHA:169186
HP:0002167	Abnormality of speech or vocalization	6261	RYR1	ORPHA:169186
HP:0002167	Abnormality of speech or vocalization	9158	FIBP	ORPHA:500095
HP:0002167	Abnormality of speech or vocalization	4683	NBN	OMIM:251260
HP:0002167	Abnormality of speech or vocalization	9698	PUM1	OMIM:617931
HP:0002167	Abnormality of speech or vocalization	29926	GMPPA	OMIM:615510
HP:0002167	Abnormality of speech or vocalization	658	BMPR1B	OMIM:616849
HP:0002167	Abnormality of speech or vocalization	57511	COG6	ORPHA:363523
HP:0002167	Abnormality of speech or vocalization	57511	COG6	OMIM:615328
HP:0002167	Abnormality of speech or vocalization	113179	ADAT3	ORPHA:363528
HP:0002167	Abnormality of speech or vocalization	55784	MCTP2	ORPHA:1596
HP:0002167	Abnormality of speech or vocalization	5831	PYCR1	OMIM:614438
HP:0002167	Abnormality of speech or vocalization	3736	KCNA1	ORPHA:37612
HP:0002167	Abnormality of speech or vocalization	2592	GALT	ORPHA:79239
HP:0002167	Abnormality of speech or vocalization	10484	SEC23A	ORPHA:50814
HP:0002167	Abnormality of speech or vocalization	7874	USP7	OMIM:616863
HP:0002167	Abnormality of speech or vocalization	7874	USP7	ORPHA:500055
HP:0002167	Abnormality of speech or vocalization	55603	TENT5A	OMIM:617952
HP:0002167	Abnormality of speech or vocalization	26007	TKFC	OMIM:618805
HP:0002167	Abnormality of speech or vocalization	27315	PGAP2	OMIM:614207
HP:0002167	Abnormality of speech or vocalization	64131	XYLT1	OMIM:615777
HP:0002167	Abnormality of speech or vocalization	5257	PHKB	ORPHA:79240
HP:0002167	Abnormality of speech or vocalization	128989	TANGO2	ORPHA:480864
HP:0002167	Abnormality of speech or vocalization	5718	PSMD12	ORPHA:529962
HP:0002167	Abnormality of speech or vocalization	5718	PSMD12	OMIM:617516
HP:0002167	Abnormality of speech or vocalization	2186	BPTF	ORPHA:529962
HP:0002167	Abnormality of speech or vocalization	2186	BPTF	OMIM:617755
HP:0002167	Abnormality of speech or vocalization	4287	ATXN3	ORPHA:276238
HP:0002167	Abnormality of speech or vocalization	4287	ATXN3	ORPHA:276244
HP:0002167	Abnormality of speech or vocalization	4287	ATXN3	ORPHA:276241
HP:0002167	Abnormality of speech or vocalization	27010	TPK1	OMIM:614458
HP:0002167	Abnormality of speech or vocalization	55644	OSGEP	OMIM:617729
HP:0002167	Abnormality of speech or vocalization	57572	DOCK6	OMIM:614219
HP:0002167	Abnormality of speech or vocalization	54658	UGT1A1	ORPHA:79234
HP:0002167	Abnormality of speech or vocalization	7074	TIAM1	OMIM:619908
HP:0002167	Abnormality of speech or vocalization	2464	FRA16E	OMIM:136570
HP:0002167	Abnormality of speech or vocalization	112858	TP53RK	OMIM:617730
HP:0002167	Abnormality of speech or vocalization	1778	DYNC1H1	OMIM:614228
HP:0002167	Abnormality of speech or vocalization	4929	NR4A2	OMIM:619911
HP:0002167	Abnormality of speech or vocalization	8405	SPOP	OMIM:618828
HP:0002167	Abnormality of speech or vocalization	8405	SPOP	OMIM:618829
HP:0002167	Abnormality of speech or vocalization	54870	QRICH1	OMIM:617982
HP:0002167	Abnormality of speech or vocalization	4780	NFE2L2	OMIM:617744
HP:0002167	Abnormality of speech or vocalization	2890	GRIA1	OMIM:619927
HP:0002167	Abnormality of speech or vocalization	54805	CNNM2	OMIM:616418
HP:0002167	Abnormality of speech or vocalization	5500	PPP1CB	OMIM:617506
HP:0002167	Abnormality of speech or vocalization	7291	TWIST1	OMIM:617746
HP:0002167	Abnormality of speech or vocalization	126792	B3GALT6	ORPHA:536467
HP:0002167	Abnormality of speech or vocalization	57502	NLGN4X	OMIM:300495
HP:0002167	Abnormality of speech or vocalization	4047	LSS	OMIM:618840
HP:0002167	Abnormality of speech or vocalization	9320	TRIP12	OMIM:617752
HP:0002167	Abnormality of speech or vocalization	51780	KDM3B	OMIM:618846
HP:0002167	Abnormality of speech or vocalization	8575	PRKRA	OMIM:612067
HP:0002167	Abnormality of speech or vocalization	5455	POU3F3	OMIM:618604
HP:0002167	Abnormality of speech or vocalization	119559	SFXN4	OMIM:615578
HP:0002167	Abnormality of speech or vocalization	4848	CNOT2	OMIM:618608
HP:0002167	Abnormality of speech or vocalization	1807	DPYS	OMIM:222748
HP:0002167	Abnormality of speech or vocalization	2639	GCDH	OMIM:231670
HP:0002167	Abnormality of speech or vocalization	23133	PHF8	OMIM:300263
HP:0002167	Abnormality of speech or vocalization	84706	GPT2	ORPHA:477673
HP:0002167	Abnormality of speech or vocalization	23404	EXOSC2	OMIM:617763
HP:0002167	Abnormality of speech or vocalization	8738	CRADD	OMIM:614499
HP:0002167	Abnormality of speech or vocalization	4858	NOVA2	OMIM:618859
HP:0002167	Abnormality of speech or vocalization	9181	ARHGEF2	OMIM:617523
HP:0002167	Abnormality of speech or vocalization	547	KIF1A	OMIM:614255
HP:0002167	Abnormality of speech or vocalization	58499	ZNF462	OMIM:618619
HP:0002167	Abnormality of speech or vocalization	2582	GALE	OMIM:230350
HP:0002167	Abnormality of speech or vocalization	5274	SERPINI1	OMIM:604218
HP:0002167	Abnormality of speech or vocalization	10749	KIF1C	ORPHA:397946
HP:0002167	Abnormality of speech or vocalization	10749	KIF1C	OMIM:611302
HP:0002167	Abnormality of speech or vocalization	2673	GFPT1	OMIM:608931
HP:0002167	Abnormality of speech or vocalization	1145	CHRNE	OMIM:608931
HP:0002167	Abnormality of speech or vocalization	23646	PLD3	OMIM:617770
HP:0002167	Abnormality of speech or vocalization	5238	PGM3	ORPHA:443811
HP:0002167	Abnormality of speech or vocalization	5238	PGM3	OMIM:615816
HP:0002167	Abnormality of speech or vocalization	11284	PNKP	ORPHA:459033
HP:0002167	Abnormality of speech or vocalization	55733	HHAT	OMIM:600092
HP:0002167	Abnormality of speech or vocalization	1134	CHRNA1	OMIM:608930
HP:0002167	Abnormality of speech or vocalization	1134	CHRNA1	OMIM:601462
HP:0002167	Abnormality of speech or vocalization	5521	PPP2R2B	OMIM:604326
HP:0002167	Abnormality of speech or vocalization	8722	CTSF	OMIM:615362
HP:0002167	Abnormality of speech or vocalization	10528	NOP56	OMIM:614153
HP:0002167	Abnormality of speech or vocalization	10528	NOP56	ORPHA:276198
HP:0002167	Abnormality of speech or vocalization	101060691	NUTM2B-AS1	OMIM:618637
HP:0002167	Abnormality of speech or vocalization	2670	GFAP	OMIM:203450
HP:0002167	Abnormality of speech or vocalization	2670	GFAP	ORPHA:363722
HP:0002167	Abnormality of speech or vocalization	2670	GFAP	ORPHA:363717
HP:0002167	Abnormality of speech or vocalization	1476	CSTB	OMIM:254800
HP:0002167	Abnormality of speech or vocalization	1476	CSTB	ORPHA:308
HP:0002167	Abnormality of speech or vocalization	1161	ERCC8	OMIM:216400
HP:0002167	Abnormality of speech or vocalization	23400	ATP13A2	ORPHA:314632
HP:0002167	Abnormality of speech or vocalization	23400	ATP13A2	OMIM:617225
HP:0002167	Abnormality of speech or vocalization	23400	ATP13A2	ORPHA:513436
HP:0002167	Abnormality of speech or vocalization	23400	ATP13A2	ORPHA:306674
HP:0002167	Abnormality of speech or vocalization	23400	ATP13A2	OMIM:606693
HP:0002167	Abnormality of speech or vocalization	410	ARSA	ORPHA:309271
HP:0002167	Abnormality of speech or vocalization	410	ARSA	ORPHA:309263
HP:0002167	Abnormality of speech or vocalization	410	ARSA	OMIM:250100
HP:0002167	Abnormality of speech or vocalization	410	ARSA	ORPHA:309256
HP:0002167	Abnormality of speech or vocalization	5660	PSAP	ORPHA:309271
HP:0002167	Abnormality of speech or vocalization	5660	PSAP	ORPHA:309263
HP:0002167	Abnormality of speech or vocalization	5660	PSAP	ORPHA:309256
HP:0002167	Abnormality of speech or vocalization	5660	PSAP	OMIM:249900
HP:0002167	Abnormality of speech or vocalization	146057	TTBK2	OMIM:604432
HP:0002167	Abnormality of speech or vocalization	146057	TTBK2	ORPHA:98767
HP:0002167	Abnormality of speech or vocalization	348	APOE	OMIM:607822
HP:0002167	Abnormality of speech or vocalization	64834	ELOVL1	OMIM:618527
HP:0002167	Abnormality of speech or vocalization	311	ANXA11	OMIM:619733
HP:0002167	Abnormality of speech or vocalization	10049	DNAJB6	ORPHA:34516
HP:0002167	Abnormality of speech or vocalization	84504	NKX6-2	OMIM:617560
HP:0002167	Abnormality of speech or vocalization	84504	NKX6-2	ORPHA:527497
HP:0002167	Abnormality of speech or vocalization	10935	PRDX3	OMIM:619862
HP:0002167	Abnormality of speech or vocalization	23312	DMXL2	OMIM:616113
HP:0002167	Abnormality of speech or vocalization	23312	DMXL2	ORPHA:453533
HP:0002167	Abnormality of speech or vocalization	246243	RNASEH1	OMIM:616479
HP:0002167	Abnormality of speech or vocalization	246243	RNASEH1	ORPHA:329336
HP:0002167	Abnormality of speech or vocalization	51271	UBAP1	OMIM:618418
HP:0002167	Abnormality of speech or vocalization	51761	ATP8A2	OMIM:615268
HP:0002167	Abnormality of speech or vocalization	1201	CLN3	OMIM:204200
HP:0002167	Abnormality of speech or vocalization	1201	CLN3	ORPHA:228346
HP:0002167	Abnormality of speech or vocalization	54840	APTX	OMIM:208920
HP:0002167	Abnormality of speech or vocalization	79731	NARS2	OMIM:616239
HP:0002167	Abnormality of speech or vocalization	950	SCARB2	OMIM:254900
HP:0002167	Abnormality of speech or vocalization	950	SCARB2	ORPHA:308
HP:0002167	Abnormality of speech or vocalization	4747	NEFL	ORPHA:101085
HP:0002167	Abnormality of speech or vocalization	5192	PEX10	ORPHA:247815
HP:0002167	Abnormality of speech or vocalization	5192	PEX10	OMIM:614871
HP:0002167	Abnormality of speech or vocalization	8622	PDE8B	ORPHA:228169
HP:0002167	Abnormality of speech or vocalization	8622	PDE8B	OMIM:609161
HP:0002167	Abnormality of speech or vocalization	9895	TECPR2	OMIM:615031
HP:0002167	Abnormality of speech or vocalization	9895	TECPR2	ORPHA:320385
HP:0002167	Abnormality of speech or vocalization	23259	DDHD2	OMIM:615033
HP:0002167	Abnormality of speech or vocalization	23259	DDHD2	ORPHA:320380
HP:0002167	Abnormality of speech or vocalization	54902	TTC19	OMIM:615157
HP:0002167	Abnormality of speech or vocalization	4311	MME	ORPHA:497764
HP:0002167	Abnormality of speech or vocalization	4311	MME	OMIM:617018
HP:0002167	Abnormality of speech or vocalization	1615	DARS1	OMIM:615281
HP:0002167	Abnormality of speech or vocalization	9474	ATG5	OMIM:617584
HP:0002167	Abnormality of speech or vocalization	146227	BEAN1	ORPHA:217012
HP:0002167	Abnormality of speech or vocalization	146227	BEAN1	OMIM:117210
HP:0002167	Abnormality of speech or vocalization	57462	MYORG	OMIM:618317
HP:0002167	Abnormality of speech or vocalization	2729	GCLC	ORPHA:33574
HP:0002167	Abnormality of speech or vocalization	540	ATP7B	OMIM:277900
HP:0002167	Abnormality of speech or vocalization	540	ATP7B	ORPHA:905
HP:0002167	Abnormality of speech or vocalization	2395	FXN	OMIM:229300
HP:0002167	Abnormality of speech or vocalization	2395	FXN	ORPHA:95
HP:0002167	Abnormality of speech or vocalization	404672	GTF2H5	ORPHA:33364
HP:0002167	Abnormality of speech or vocalization	136647	MPLKIP	ORPHA:33364
HP:0002167	Abnormality of speech or vocalization	6897	TARS1	ORPHA:33364
HP:0002167	Abnormality of speech or vocalization	2071	ERCC3	ORPHA:33364
HP:0002167	Abnormality of speech or vocalization	2071	ERCC3	ORPHA:220295
HP:0002167	Abnormality of speech or vocalization	2961	GTF2E2	ORPHA:33364
HP:0002167	Abnormality of speech or vocalization	1967	EIF2B1	OMIM:603896
HP:0002167	Abnormality of speech or vocalization	85300	ATCAY	OMIM:601238
HP:0002167	Abnormality of speech or vocalization	85300	ATCAY	ORPHA:94122
HP:0002167	Abnormality of speech or vocalization	79734	KCTD17	OMIM:616398
HP:0002167	Abnormality of speech or vocalization	7080	NKX2-1	OMIM:610978
HP:0002167	Abnormality of speech or vocalization	7080	NKX2-1	ORPHA:209905
HP:0002167	Abnormality of speech or vocalization	7080	NKX2-1	OMIM:118700
HP:0002167	Abnormality of speech or vocalization	4594	MMUT	ORPHA:79312
HP:0002167	Abnormality of speech or vocalization	10371	SEMA3A	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	81848	SPRY4	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	23767	FLRT3	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	128674	PROKR2	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	79625	NDNF	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	389549	FEZF1	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	3730	ANOS1	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	54756	IL17RD	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	6663	SOX10	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	285025	CCDC141	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	60675	PROK2	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	55636	CHD7	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	1848	DUSP6	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	6870	TACR3	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	55717	WDR11	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	9394	HS6ST1	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	8820	HESX1	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	8822	FGF17	ORPHA:478
HP:0002167	Abnormality of speech or vocalization	291	SLC25A4	ORPHA:254892
HP:0002167	Abnormality of speech or vocalization	5428	POLG	ORPHA:254892
HP:0002167	Abnormality of speech or vocalization	5428	POLG	OMIM:258450
HP:0002167	Abnormality of speech or vocalization	5428	POLG	OMIM:157640
HP:0002167	Abnormality of speech or vocalization	5428	POLG	ORPHA:94125
HP:0002167	Abnormality of speech or vocalization	5428	POLG	OMIM:607459
HP:0002167	Abnormality of speech or vocalization	5428	POLG	ORPHA:70595
HP:0002167	Abnormality of speech or vocalization	56652	TWNK	ORPHA:254892
HP:0002167	Abnormality of speech or vocalization	56652	TWNK	OMIM:609286
HP:0002167	Abnormality of speech or vocalization	56652	TWNK	OMIM:607459
HP:0002167	Abnormality of speech or vocalization	56652	TWNK	ORPHA:70595
HP:0002167	Abnormality of speech or vocalization	11232	POLG2	ORPHA:254892
HP:0002167	Abnormality of speech or vocalization	3155	HMGCL	ORPHA:20
HP:0002167	Abnormality of speech or vocalization	4728	NDUFS8	OMIM:618222
HP:0002167	Abnormality of speech or vocalization	4728	NDUFS8	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	374291	NDUFS7	OMIM:618224
HP:0002167	Abnormality of speech or vocalization	374291	NDUFS7	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	23345	SYNE1	ORPHA:88644
HP:0002167	Abnormality of speech or vocalization	23345	SYNE1	OMIM:610743
HP:0002167	Abnormality of speech or vocalization	4703	NEB	OMIM:256030
HP:0002167	Abnormality of speech or vocalization	144165	PRICKLE1	ORPHA:308
HP:0002167	Abnormality of speech or vocalization	144165	PRICKLE1	OMIM:612437
HP:0002167	Abnormality of speech or vocalization	3208	HPCA	ORPHA:99657
HP:0002167	Abnormality of speech or vocalization	3208	HPCA	OMIM:224500
HP:0002167	Abnormality of speech or vocalization	6548	SLC9A1	OMIM:616291
HP:0002167	Abnormality of speech or vocalization	2581	GALC	ORPHA:206443
HP:0002167	Abnormality of speech or vocalization	81790	RNF170	OMIM:619686
HP:0002167	Abnormality of speech or vocalization	23114	NFASC	OMIM:618356
HP:0002167	Abnormality of speech or vocalization	55182	RNF220	OMIM:619688
HP:0002167	Abnormality of speech or vocalization	63895	PIEZO2	OMIM:617146
HP:0002167	Abnormality of speech or vocalization	79133	NDUFAF5	OMIM:618238
HP:0002167	Abnormality of speech or vocalization	79133	NDUFAF5	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	137682	NDUFAF6	OMIM:618239
HP:0002167	Abnormality of speech or vocalization	137682	NDUFAF6	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	65055	REEP1	ORPHA:101011
HP:0002167	Abnormality of speech or vocalization	65055	REEP1	OMIM:610250
HP:0002167	Abnormality of speech or vocalization	5994	RFXAP	ORPHA:572
HP:0002167	Abnormality of speech or vocalization	4261	CIITA	ORPHA:572
HP:0002167	Abnormality of speech or vocalization	5993	RFX5	ORPHA:572
HP:0002167	Abnormality of speech or vocalization	8625	RFXANK	ORPHA:572
HP:0002167	Abnormality of speech or vocalization	7084	TK2	ORPHA:254875
HP:0002167	Abnormality of speech or vocalization	7084	TK2	OMIM:617069
HP:0002167	Abnormality of speech or vocalization	4704	NDUFA9	OMIM:618247
HP:0002167	Abnormality of speech or vocalization	4704	NDUFA9	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	29978	UBQLN2	OMIM:300857
HP:0002167	Abnormality of speech or vocalization	267010	RNU12	OMIM:620208
HP:0002167	Abnormality of speech or vocalization	267010	RNU12	ORPHA:512260
HP:0002167	Abnormality of speech or vocalization	54834	GDAP2	OMIM:618369
HP:0002167	Abnormality of speech or vocalization	4864	NPC1	OMIM:257220
HP:0002167	Abnormality of speech or vocalization	4547	MTTP	ORPHA:14
HP:0002167	Abnormality of speech or vocalization	51102	MECR	OMIM:617282
HP:0002167	Abnormality of speech or vocalization	51102	MECR	ORPHA:508093
HP:0002167	Abnormality of speech or vocalization	5903	RANBP2	ORPHA:88619
HP:0002167	Abnormality of speech or vocalization	1814	DRD3	OMIM:190300
HP:0002167	Abnormality of speech or vocalization	84668	HYCC1	OMIM:610532
HP:0002167	Abnormality of speech or vocalization	2065	ERBB3	OMIM:243180
HP:0002167	Abnormality of speech or vocalization	1938	EEF2	ORPHA:101112
HP:0002167	Abnormality of speech or vocalization	1938	EEF2	OMIM:609306
HP:0002167	Abnormality of speech or vocalization	84265	POLR3GL	OMIM:619234
HP:0002167	Abnormality of speech or vocalization	65260	COA7	OMIM:618387
HP:0002167	Abnormality of speech or vocalization	64849	SLC13A3	OMIM:618384
HP:0002167	Abnormality of speech or vocalization	10846	PDE10A	ORPHA:494526
HP:0002167	Abnormality of speech or vocalization	10846	PDE10A	OMIM:616921
HP:0002167	Abnormality of speech or vocalization	7345	UCHL1	OMIM:620221
HP:0002167	Abnormality of speech or vocalization	246329	STAC3	ORPHA:168572
HP:0002167	Abnormality of speech or vocalization	378884	NHLRC1	ORPHA:501
HP:0002167	Abnormality of speech or vocalization	7957	EPM2A	ORPHA:501
HP:0002167	Abnormality of speech or vocalization	7504	XK	OMIM:300842
HP:0002167	Abnormality of speech or vocalization	128240	NAXE	OMIM:617186
HP:0002167	Abnormality of speech or vocalization	23230	VPS13A	OMIM:200150
HP:0002167	Abnormality of speech or vocalization	23230	VPS13A	ORPHA:2388
HP:0002167	Abnormality of speech or vocalization	5173	PDYN	ORPHA:101108
HP:0002167	Abnormality of speech or vocalization	5173	PDYN	OMIM:610245
HP:0002167	Abnormality of speech or vocalization	55145	THAP1	OMIM:602629
HP:0002167	Abnormality of speech or vocalization	55145	THAP1	ORPHA:98806
HP:0002167	Abnormality of speech or vocalization	79152	FA2H	ORPHA:171629
HP:0002167	Abnormality of speech or vocalization	79152	FA2H	ORPHA:329308
HP:0002167	Abnormality of speech or vocalization	79152	FA2H	OMIM:612319
HP:0002167	Abnormality of speech or vocalization	6571	SLC18A2	OMIM:618049
HP:0002167	Abnormality of speech or vocalization	6571	SLC18A2	ORPHA:352649
HP:0002167	Abnormality of speech or vocalization	727676	SNORD118	ORPHA:542310
HP:0002167	Abnormality of speech or vocalization	727676	SNORD118	OMIM:614561
HP:0002167	Abnormality of speech or vocalization	9997	SCO2	ORPHA:521411
HP:0002167	Abnormality of speech or vocalization	5216	PFN1	OMIM:614808
HP:0002167	Abnormality of speech or vocalization	899	CCNF	OMIM:619141
HP:0002167	Abnormality of speech or vocalization	129285	PPP1R21	OMIM:619383
HP:0002167	Abnormality of speech or vocalization	25793	FBXO7	OMIM:260300
HP:0002167	Abnormality of speech or vocalization	2747	GLUD2	OMIM:168600
HP:0002167	Abnormality of speech or vocalization	126	ADH1C	OMIM:168600
HP:0002167	Abnormality of speech or vocalization	4576	MT-TT	OMIM:168600
HP:0002167	Abnormality of speech or vocalization	9627	SNCAIP	OMIM:168600
HP:0002167	Abnormality of speech or vocalization	6311	ATXN2	OMIM:168600
HP:0002167	Abnormality of speech or vocalization	6311	ATXN2	OMIM:183090
HP:0002167	Abnormality of speech or vocalization	6311	ATXN2	ORPHA:98756
HP:0002167	Abnormality of speech or vocalization	6622	SNCA	OMIM:168601
HP:0002167	Abnormality of speech or vocalization	50640	PNPLA8	OMIM:251950
HP:0002167	Abnormality of speech or vocalization	55129	ANO10	OMIM:613728
HP:0002167	Abnormality of speech or vocalization	55129	ANO10	ORPHA:284289
HP:0002167	Abnormality of speech or vocalization	60481	ELOVL5	ORPHA:423296
HP:0002167	Abnormality of speech or vocalization	60481	ELOVL5	OMIM:615957
HP:0002167	Abnormality of speech or vocalization	7403	KDM6A	OMIM:147920
HP:0002167	Abnormality of speech or vocalization	4352	MPL	ORPHA:71493
HP:0002167	Abnormality of speech or vocalization	7066	THPO	ORPHA:71493
HP:0002167	Abnormality of speech or vocalization	3717	JAK2	ORPHA:71493
HP:0002167	Abnormality of speech or vocalization	2643	GCH1	OMIM:128230
HP:0002167	Abnormality of speech or vocalization	23769	FLRT1	ORPHA:320406
HP:0002167	Abnormality of speech or vocalization	64837	KLC2	ORPHA:320406
HP:0002167	Abnormality of speech or vocalization	64837	KLC2	OMIM:609541
HP:0002167	Abnormality of speech or vocalization	91574	MTRFR	ORPHA:254930
HP:0002167	Abnormality of speech or vocalization	91574	MTRFR	OMIM:613559
HP:0002167	Abnormality of speech or vocalization	55532	SLC30A10	ORPHA:309854
HP:0002167	Abnormality of speech or vocalization	55532	SLC30A10	OMIM:613280
HP:0002167	Abnormality of speech or vocalization	9782	MATR3	OMIM:606070
HP:0002167	Abnormality of speech or vocalization	9782	MATR3	ORPHA:600
HP:0002167	Abnormality of speech or vocalization	785	CACNB4	OMIM:613855
HP:0002167	Abnormality of speech or vocalization	785	CACNB4	ORPHA:211067
HP:0002167	Abnormality of speech or vocalization	785	CACNB4	OMIM:607682
HP:0002167	Abnormality of speech or vocalization	5111	PCNA	OMIM:615919
HP:0002167	Abnormality of speech or vocalization	9640	ZNF592	ORPHA:83472
HP:0002167	Abnormality of speech or vocalization	51204	TACO1	OMIM:619052
HP:0002167	Abnormality of speech or vocalization	51204	TACO1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	6575	SLC20A2	OMIM:213600
HP:0002167	Abnormality of speech or vocalization	5159	PDGFRB	OMIM:213600
HP:0002167	Abnormality of speech or vocalization	29967	LRP12	OMIM:164310
HP:0002167	Abnormality of speech or vocalization	7276	TTR	OMIM:105210
HP:0002167	Abnormality of speech or vocalization	55187	VPS13D	ORPHA:95434
HP:0002167	Abnormality of speech or vocalization	55187	VPS13D	OMIM:607317
HP:0002167	Abnormality of speech or vocalization	823	CAPN1	OMIM:616907
HP:0002167	Abnormality of speech or vocalization	823	CAPN1	ORPHA:488594
HP:0002167	Abnormality of speech or vocalization	1678	TIMM8A	OMIM:304700
HP:0002167	Abnormality of speech or vocalization	7466	WFS1	OMIM:222300
HP:0002167	Abnormality of speech or vocalization	7466	WFS1	ORPHA:3463
HP:0002167	Abnormality of speech or vocalization	7156	TOP3A	OMIM:618098
HP:0002167	Abnormality of speech or vocalization	26090	ABHD12	OMIM:612674
HP:0002167	Abnormality of speech or vocalization	4598	MVK	OMIM:610377
HP:0002167	Abnormality of speech or vocalization	3475	IFRD1	ORPHA:98771
HP:0002167	Abnormality of speech or vocalization	3752	KCND3	ORPHA:98772
HP:0002167	Abnormality of speech or vocalization	3752	KCND3	OMIM:607346
HP:0002167	Abnormality of speech or vocalization	84138	SLC7A6OS	OMIM:619191
HP:0002167	Abnormality of speech or vocalization	5828	PEX2	OMIM:614867
HP:0002167	Abnormality of speech or vocalization	90624	LYRM7	OMIM:615838
HP:0002167	Abnormality of speech or vocalization	3748	KCNC3	ORPHA:98768
HP:0002167	Abnormality of speech or vocalization	3748	KCNC3	OMIM:605259
HP:0002167	Abnormality of speech or vocalization	493856	CISD2	ORPHA:3463
HP:0002167	Abnormality of speech or vocalization	80067	DCAF17	ORPHA:3464
HP:0002167	Abnormality of speech or vocalization	80067	DCAF17	OMIM:241080
HP:0002167	Abnormality of speech or vocalization	5582	PRKCG	ORPHA:98763
HP:0002167	Abnormality of speech or vocalization	5582	PRKCG	OMIM:605361
HP:0002167	Abnormality of speech or vocalization	25894	PLEKHG4	ORPHA:98765
HP:0002167	Abnormality of speech or vocalization	10613	ERLIN1	ORPHA:401785
HP:0002167	Abnormality of speech or vocalization	10613	ERLIN1	OMIM:615681
HP:0002167	Abnormality of speech or vocalization	3251	HPRT1	OMIM:300322
HP:0002167	Abnormality of speech or vocalization	2934	GSN	ORPHA:85448
HP:0002167	Abnormality of speech or vocalization	255928	SYT14	ORPHA:284271
HP:0002167	Abnormality of speech or vocalization	255928	SYT14	OMIM:614229
HP:0002167	Abnormality of speech or vocalization	9409	PEX16	OMIM:614877
HP:0002167	Abnormality of speech or vocalization	8106	PABPN1	OMIM:164300
HP:0002167	Abnormality of speech or vocalization	2937	GSS	OMIM:266130
HP:0002167	Abnormality of speech or vocalization	10133	OPTN	OMIM:613435
HP:0002167	Abnormality of speech or vocalization	200403	VWA3B	OMIM:616948
HP:0002167	Abnormality of speech or vocalization	4556	MT-TE	ORPHA:2596
HP:0002167	Abnormality of speech or vocalization	6314	ATXN7	ORPHA:94147
HP:0002167	Abnormality of speech or vocalization	6314	ATXN7	OMIM:164500
HP:0002167	Abnormality of speech or vocalization	80199	FUZ	ORPHA:1136
HP:0002167	Abnormality of speech or vocalization	80207	OPA3	OMIM:258501
HP:0002167	Abnormality of speech or vocalization	80207	OPA3	ORPHA:67047
HP:0002167	Abnormality of speech or vocalization	51308	REEP2	OMIM:615625
HP:0002167	Abnormality of speech or vocalization	79628	SH3TC2	ORPHA:99949
HP:0002167	Abnormality of speech or vocalization	23064	SETX	OMIM:606002
HP:0002167	Abnormality of speech or vocalization	4976	OPA1	OMIM:210000
HP:0002167	Abnormality of speech or vocalization	8729	GBF1	OMIM:606483
HP:0002167	Abnormality of speech or vocalization	51062	ATL1	ORPHA:100984
HP:0002167	Abnormality of speech or vocalization	6683	SPAST	ORPHA:100985
HP:0002167	Abnormality of speech or vocalization	9420	CYP7B1	ORPHA:100986
HP:0002167	Abnormality of speech or vocalization	9420	CYP7B1	OMIM:270800
HP:0002167	Abnormality of speech or vocalization	5193	PEX12	OMIM:266510
HP:0002167	Abnormality of speech or vocalization	23600	AMACR	OMIM:614307
HP:0002167	Abnormality of speech or vocalization	125988	MICOS13	ORPHA:67047
HP:0002167	Abnormality of speech or vocalization	80347	COASY	OMIM:615643
HP:0002167	Abnormality of speech or vocalization	80347	COASY	ORPHA:397725
HP:0002167	Abnormality of speech or vocalization	57505	AARS2	OMIM:615889
HP:0002167	Abnormality of speech or vocalization	767	CA8	OMIM:613227
HP:0002167	Abnormality of speech or vocalization	9829	DNAJC6	OMIM:615528
HP:0002167	Abnormality of speech or vocalization	2058	EPRS1	OMIM:617951
HP:0002167	Abnormality of speech or vocalization	54974	THG1L	OMIM:618800
HP:0002167	Abnormality of speech or vocalization	20	ABCA2	OMIM:618808
HP:0002167	Abnormality of speech or vocalization	9217	VAPB	OMIM:608627
HP:0002167	Abnormality of speech or vocalization	1641	DCX	OMIM:300067
HP:0002167	Abnormality of speech or vocalization	57338	JPH3	OMIM:606438
HP:0002167	Abnormality of speech or vocalization	953	ENTPD1	ORPHA:401810
HP:0002167	Abnormality of speech or vocalization	953	ENTPD1	OMIM:615683
HP:0002167	Abnormality of speech or vocalization	58494	JAM2	OMIM:618824
HP:0002167	Abnormality of speech or vocalization	22934	RPIA	OMIM:608611
HP:0002167	Abnormality of speech or vocalization	203228	C9orf72	OMIM:105550
HP:0002167	Abnormality of speech or vocalization	9213	XPR1	OMIM:616413
HP:0002167	Abnormality of speech or vocalization	3295	HSD17B4	OMIM:233400
HP:0002167	Abnormality of speech or vocalization	2073	ERCC5	ORPHA:220295
HP:0002167	Abnormality of speech or vocalization	9499	MYOT	ORPHA:98911
HP:0002167	Abnormality of speech or vocalization	8292	COLQ	OMIM:603034
HP:0002167	Abnormality of speech or vocalization	91942	NDUFAF2	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	6834	SURF1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4723	NDUFV1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4729	NDUFV2	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	55967	NDUFA12	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4720	NDUFS2	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4724	NDUFS4	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4722	NDUFS3	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	5160	PDHA1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	100131801	PET100	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	1355	COX15	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	1892	ECHS1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4705	NDUFA10	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	51601	LIPT1	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	4695	NDUFA2	ORPHA:255241
HP:0002167	Abnormality of speech or vocalization	10577	NPC2	OMIM:607625
HP:0002167	Abnormality of speech or vocalization	210	ALAD	ORPHA:100924
HP:0002167	Abnormality of speech or vocalization	1203	CLN5	OMIM:256731
HP:0002167	Abnormality of speech or vocalization	7515	XRCC1	OMIM:617633
HP:0002167	Abnormality of speech or vocalization	23533	PIK3R5	OMIM:615217
HP:0002167	Abnormality of speech or vocalization	8086	AAAS	OMIM:231550
HP:0002167	Abnormality of speech or vocalization	8139	GAN	OMIM:256850
HP:0002167	Abnormality of speech or vocalization	131669	UROC1	ORPHA:210128
HP:0002167	Abnormality of speech or vocalization	80169	CTC1	OMIM:612199
HP:0002167	Abnormality of speech or vocalization	2196	FAT2	OMIM:617769
HP:0002167	Abnormality of speech or vocalization	2137	EXTL3	ORPHA:508533
HP:0002167	Abnormality of speech or vocalization	104	ADARB1	OMIM:618862
HP:0002167	Abnormality of speech or vocalization	2775	GNAO1	OMIM:615473
HP:0002167	Abnormality of speech or vocalization	2775	GNAO1	OMIM:617493
HP:0002167	Abnormality of speech or vocalization	51569	UFM1	OMIM:617899
HP:0002167	Abnormality of speech or vocalization	9254	CACNA2D2	OMIM:618501
HP:0002167	Abnormality of speech or vocalization	7360	UGP2	OMIM:618744
HP:0002167	Abnormality of speech or vocalization	79848	CSPP1	ORPHA:397715
HP:0002167	Abnormality of speech or vocalization	9786	KIAA0586	ORPHA:397715
HP:0002167	Abnormality of speech or vocalization	65993	MRPS34	OMIM:617664
HP:0002167	Abnormality of speech or vocalization	387787	LIPT2	OMIM:617668
HP:0002167	Abnormality of speech or vocalization	166378	AFG2A	OMIM:616577
HP:0002167	Abnormality of speech or vocalization	65082	VPS33A	OMIM:617303
HP:0002167	Abnormality of speech or vocalization	65082	VPS33A	ORPHA:505248
HP:0002167	Abnormality of speech or vocalization	10565	ARFGEF1	OMIM:619964
HP:0002167	Abnormality of speech or vocalization	5610	EIF2AK2	OMIM:618877
HP:0002167	Abnormality of speech or vocalization	150094	SIK1	OMIM:616341
HP:0002167	Abnormality of speech or vocalization	170825	GSX2	OMIM:618646
HP:0002167	Abnormality of speech or vocalization	7920	ABHD16A	OMIM:619735
HP:0002167	Abnormality of speech or vocalization	283987	HID1	OMIM:619983
HP:0002167	Abnormality of speech or vocalization	22884	WDR37	OMIM:618652
HP:0002167	Abnormality of speech or vocalization	6905	TBCE	OMIM:617207
HP:0002167	Abnormality of speech or vocalization	84879	MFSD2A	OMIM:616486
HP:0002167	Abnormality of speech or vocalization	27089	UQCRQ	OMIM:615159
HP:0002167	Abnormality of speech or vocalization	4191	MDH2	OMIM:617339
HP:0002167	Abnormality of speech or vocalization	54828	BCAS3	OMIM:619641
HP:0002167	Abnormality of speech or vocalization	3800	KIF5C	OMIM:615282
HP:0002167	Abnormality of speech or vocalization	122961	ISCA2	OMIM:616370
HP:0002167	Abnormality of speech or vocalization	253959	RALGAPA1	OMIM:618797
HP:0002167	Abnormality of speech or vocalization	2904	GRIN2B	OMIM:616139
HP:0002167	Abnormality of speech or vocalization	9562	MINPP1	OMIM:619527
HP:0002167	Abnormality of speech or vocalization	57192	MCOLN1	ORPHA:578
HP:0002167	Abnormality of speech or vocalization	57192	MCOLN1	OMIM:252650
HP:0002167	Abnormality of speech or vocalization	10667	FARS2	ORPHA:466722
HP:0002167	Abnormality of speech or vocalization	23556	PIGN	OMIM:614080
HP:0002167	Abnormality of speech or vocalization	9922	IQSEC1	OMIM:618687
HP:0002167	Abnormality of speech or vocalization	284098	PIGW	OMIM:616025
HP:0002167	Abnormality of speech or vocalization	51227	PIGP	OMIM:617599
HP:0002167	Abnormality of speech or vocalization	23499	MACF1	OMIM:618325
HP:0002167	Abnormality of speech or vocalization	51645	PPIL1	OMIM:619301
HP:0002167	Abnormality of speech or vocalization	58497	PRUNE1	OMIM:617481
HP:0002167	Abnormality of speech or vocalization	58497	PRUNE1	ORPHA:544469
HP:0002167	Abnormality of speech or vocalization	26173	INTS1	OMIM:618571
HP:0002167	Abnormality of speech or vocalization	55656	INTS8	OMIM:618572
HP:0002167	Abnormality of speech or vocalization	3658	IREB2	OMIM:618451
HP:0002167	Abnormality of speech or vocalization	51693	TRAPPC2L	OMIM:618331
HP:0002167	Abnormality of speech or vocalization	81603	TRIM8	OMIM:619428
HP:0002167	Abnormality of speech or vocalization	5277	PIGA	OMIM:301072
HP:0002167	Abnormality of speech or vocalization	5277	PIGA	OMIM:300868
HP:0002167	Abnormality of speech or vocalization	8925	HERC1	OMIM:617011
HP:0002167	Abnormality of speech or vocalization	8925	HERC1	ORPHA:457359
HP:0002167	Abnormality of speech or vocalization	84894	LINGO1	OMIM:618103
HP:0002167	Abnormality of speech or vocalization	56896	DPYSL5	OMIM:619435
HP:0002167	Abnormality of speech or vocalization	54892	NCAPG2	OMIM:618460
HP:0002167	Abnormality of speech or vocalization	8573	CASK	OMIM:300749
HP:0002167	Abnormality of speech or vocalization	8573	CASK	ORPHA:163937
HP:0002167	Abnormality of speech or vocalization	92335	STRADA	ORPHA:500533
HP:0002167	Abnormality of speech or vocalization	92335	STRADA	OMIM:611087
HP:0002167	Abnormality of speech or vocalization	8818	DPM2	ORPHA:329178
HP:0002167	Abnormality of speech or vocalization	9526	MPDU1	OMIM:609180
HP:0002167	Abnormality of speech or vocalization	10733	PLK4	OMIM:616171
HP:0002167	Abnormality of speech or vocalization	4081	MAB21L1	OMIM:618479
HP:0002167	Abnormality of speech or vocalization	154881	KCTD7	OMIM:611726
HP:0002167	Abnormality of speech or vocalization	8869	ST3GAL5	OMIM:609056
HP:0002167	Abnormality of speech or vocalization	56915	EXOSC5	OMIM:619576
HP:0002167	Abnormality of speech or vocalization	23221	RHOBTB2	OMIM:618004
HP:0002167	Abnormality of speech or vocalization	112939	NACC1	OMIM:617393
HP:0002167	Abnormality of speech or vocalization	7965	AIMP2	OMIM:618006
HP:0002167	Abnormality of speech or vocalization	3376	IARS1	ORPHA:541423
HP:0002167	Abnormality of speech or vocalization	3376	IARS1	OMIM:617093
HP:0002167	Abnormality of speech or vocalization	51608	GET4	OMIM:620200
HP:0002167	Abnormality of speech or vocalization	8604	SLC25A12	OMIM:612949
HP:0002167	Abnormality of speech or vocalization	6821	SUOX	OMIM:272300
HP:0002167	Abnormality of speech or vocalization	7703	PCGF2	OMIM:618371
HP:0002167	Abnormality of speech or vocalization	23258	DENND5A	OMIM:617281
HP:0002167	Abnormality of speech or vocalization	389856	USP27X	OMIM:300984
HP:0002167	Abnormality of speech or vocalization	1822	ATN1	OMIM:618494
HP:0002167	Abnormality of speech or vocalization	3188	HNRNPH2	OMIM:300986
HP:0002167	Abnormality of speech or vocalization	5281	PIGF	OMIM:619356
HP:0002167	Abnormality of speech or vocalization	2290	FOXG1	ORPHA:261144
HP:0002167	Abnormality of speech or vocalization	2290	FOXG1	OMIM:613454
HP:0002167	Abnormality of speech or vocalization	57003	CCDC47	OMIM:618268
HP:0002167	Abnormality of speech or vocalization	94005	PIGS	OMIM:618143
HP:0002167	Abnormality of speech or vocalization	10682	EBP	OMIM:300960
HP:0002167	Abnormality of speech or vocalization	22983	MAST1	OMIM:618273
HP:0002167	Abnormality of speech or vocalization	23287	AGTPBP1	OMIM:618276
HP:0002167	Abnormality of speech or vocalization	79143	MBOAT7	OMIM:617188
HP:0002167	Abnormality of speech or vocalization	57038	RARS2	OMIM:611523
HP:0002167	Abnormality of speech or vocalization	498	ATP5F1A	OMIM:620358
HP:0002167	Abnormality of speech or vocalization	8911	CACNA1I	OMIM:620114
HP:0002167	Abnormality of speech or vocalization	777	CACNA1E	OMIM:618285
HP:0002167	Abnormality of speech or vocalization	55835	CENPJ	OMIM:608393
HP:0002167	Abnormality of speech or vocalization	55005	RMND1	OMIM:614922
HP:0002167	Abnormality of speech or vocalization	84081	NSRP1	OMIM:620001
HP:0002167	Abnormality of speech or vocalization	124454	EARS2	OMIM:614924
HP:0002167	Abnormality of speech or vocalization	1795	DOCK3	OMIM:618292
HP:0002167	Abnormality of speech or vocalization	3735	KARS1	OMIM:619147
HP:0002167	Abnormality of speech or vocalization	27072	VPS41	OMIM:619389
HP:0002167	Abnormality of speech or vocalization	56947	MFF	OMIM:617086
HP:0002167	Abnormality of speech or vocalization	1496	CTNNA2	OMIM:618174
HP:0002167	Abnormality of speech or vocalization	199857	ALG14	OMIM:619031
HP:0002167	Abnormality of speech or vocalization	1183	CLCN4	OMIM:300114
HP:0002167	Abnormality of speech or vocalization	347734	SLC35B2	OMIM:620269
HP:0002167	Abnormality of speech or vocalization	55325	UFSP2	OMIM:620028
HP:0002167	Abnormality of speech or vocalization	1119	CHKA	OMIM:620023
HP:0002167	Abnormality of speech or vocalization	8496	PPFIBP1	OMIM:620024
HP:0002167	Abnormality of speech or vocalization	6531	SLC6A3	ORPHA:238455
HP:0002167	Abnormality of speech or vocalization	89910	UBE3B	OMIM:244450
HP:0002167	Abnormality of speech or vocalization	51506	UFC1	OMIM:618076
HP:0002167	Abnormality of speech or vocalization	5689	PSMB1	OMIM:620038
HP:0002167	Abnormality of speech or vocalization	271	AMPD2	OMIM:615809
HP:0002167	Abnormality of speech or vocalization	64207	IRF2BPL	OMIM:618088
HP:0002167	Abnormality of speech or vocalization	114034	TOE1	OMIM:614969
HP:0002167	Abnormality of speech or vocalization	894	CCND2	OMIM:615938
HP:0002167	Abnormality of speech or vocalization	6597	SMARCA4	OMIM:614609
HP:0002167	Abnormality of speech or vocalization	6597	SMARCA4	ORPHA:1465
HP:0002167	Abnormality of speech or vocalization	23116	TOGARAM1	OMIM:619185
HP:0002167	Abnormality of speech or vocalization	79583	TMEM231	OMIM:614970
HP:0002167	Abnormality of speech or vocalization	26005	C2CD3	OMIM:615948
HP:0002167	Abnormality of speech or vocalization	84947	SERAC1	OMIM:614739
HP:0002167	Abnormality of speech or vocalization	7025	NR2F1	ORPHA:401777
HP:0002167	Abnormality of speech or vocalization	9255	AIMP1	OMIM:260600
HP:0002167	Abnormality of speech or vocalization	54499	TMCO1	OMIM:213980
HP:0002167	Abnormality of speech or vocalization	93210	PGAP3	OMIM:615716
HP:0002167	Abnormality of speech or vocalization	83475	DOHH	OMIM:620066
HP:0002167	Abnormality of speech or vocalization	51611	DPH5	OMIM:620070
HP:0002167	Abnormality of speech or vocalization	5700	PSMC1	OMIM:620071
HP:0002167	Abnormality of speech or vocalization	440138	ALG11	OMIM:613661
HP:0002167	Abnormality of speech or vocalization	64135	IFIH1	OMIM:615846
HP:0002167	Abnormality of speech or vocalization	3187	HNRNPH1	OMIM:620083
HP:0002167	Abnormality of speech or vocalization	7355	SLC35A2	OMIM:300896
HP:0002167	Abnormality of speech or vocalization	50628	GEMIN4	OMIM:617913
HP:0002167	Abnormality of speech or vocalization	7407	VARS1	OMIM:617802
HP:0002167	Abnormality of speech or vocalization	9230	RAB11B	OMIM:617807
HP:0002167	Abnormality of speech or vocalization	51807	TUBA8	ORPHA:250972
HP:0002167	Abnormality of speech or vocalization	22845	DOLK	ORPHA:91131
HP:0002167	Abnormality of speech or vocalization	79587	CARS2	ORPHA:477774
HP:0002167	Abnormality of speech or vocalization	84162	BLTP1	OMIM:617822
HP:0002167	Abnormality of speech or vocalization	7280	TUBB2A	OMIM:615763
HP:0002167	Abnormality of speech or vocalization	51010	EXOSC3	OMIM:614678
HP:0002167	Abnormality of speech or vocalization	9512	PMPCB	OMIM:617954
HP:0002167	Abnormality of speech or vocalization	6664	SOX11	ORPHA:1465
HP:0002167	Abnormality of speech or vocalization	51185	CRBN	OMIM:607417
HP:0002167	Abnormality of speech or vocalization	55969	RAB5IF	OMIM:616994
HP:0002167	Abnormality of speech or vocalization	51501	HIKESHI	OMIM:616881
HP:0002167	Abnormality of speech or vocalization	55180	LINS1	OMIM:614340
HP:0002167	Abnormality of speech or vocalization	22931	RAB18	OMIM:614222
HP:0002167	Abnormality of speech or vocalization	56270	WDR45B	OMIM:617977
HP:0002167	Abnormality of speech or vocalization	6182	MRPL12	OMIM:618951
HP:0002167	Abnormality of speech or vocalization	200894	ARL13B	OMIM:612291
HP:0002167	Abnormality of speech or vocalization	122553	TRAPPC6B	OMIM:617862
HP:0002167	Abnormality of speech or vocalization	9918	NCAPD2	OMIM:617983
HP:0002167	Abnormality of speech or vocalization	57688	ZSWIM6	OMIM:617865
HP:0002167	Abnormality of speech or vocalization	2893	GRIA4	OMIM:617864
HP:0002167	Abnormality of speech or vocalization	79867	TCTN2	OMIM:616654
HP:0002167	Abnormality of speech or vocalization	55704	CCDC88A	OMIM:617507
HP:0002167	Abnormality of speech or vocalization	55164	SHQ1	OMIM:619922
HP:0002167	Abnormality of speech or vocalization	3756	KCNH1	ORPHA:420561
HP:0002167	Abnormality of speech or vocalization	9197	SLC33A1	OMIM:614482
HP:0002167	Abnormality of speech or vocalization	57731	SPTBN4	OMIM:617519
HP:0002167	Abnormality of speech or vocalization	9990	SLC12A6	OMIM:218000
HP:0002167	Abnormality of speech or vocalization	57190	SELENON	ORPHA:324604
HP:0002167	Abnormality of speech or vocalization	57190	SELENON	OMIM:602771
HP:0002167	Abnormality of speech or vocalization	4625	MYH7	ORPHA:324604
HP:0002167	Abnormality of speech or vocalization	7273	TTN	ORPHA:324604
HP:0002167	Abnormality of speech or vocalization	5034	P4HB	OMIM:112240
HP:0002167	Abnormality of speech or vocalization	26580	BSCL2	OMIM:269700
HP:0002167	Abnormality of speech or vocalization	3704	ITPA	OMIM:616647
HP:0002167	Abnormality of speech or vocalization	4591	TRIM37	ORPHA:2576
HP:0002167	Abnormality of speech or vocalization	4591	TRIM37	OMIM:253250
HP:0002167	Abnormality of speech or vocalization	2887	GRB10	ORPHA:96182
HP:0002167	Abnormality of speech or vocalization	4000	LMNA	ORPHA:740
HP:0002167	Abnormality of speech or vocalization	10269	ZMPSTE24	ORPHA:740
HP:0002167	Abnormality of speech or vocalization	5932	RBBP8	OMIM:606744
HP:0002167	Abnormality of speech or vocalization	54453	RIN2	ORPHA:217335
HP:0002167	Abnormality of speech or vocalization	54453	RIN2	OMIM:613075
HP:0002167	Abnormality of speech or vocalization	9871	SEC24D	OMIM:616294
HP:0002167	Abnormality of speech or vocalization	2690	GHR	OMIM:262500
HP:0002167	Abnormality of speech or vocalization	2690	GHR	ORPHA:633
HP:0002167	Abnormality of speech or vocalization	10651	MTX2	OMIM:619127
HP:0002167	Abnormality of speech or vocalization	367	AR	ORPHA:90797
HP:0002167	Abnormality of speech or vocalization	641	BLM	OMIM:210900
HP:0002167	Abnormality of speech or vocalization	10847	SRCAP	ORPHA:2044
HP:0002167	Abnormality of speech or vocalization	7486	WRN	OMIM:277700
HP:0002167	Abnormality of speech or vocalization	6777	STAT5B	OMIM:245590
HP:0002167	Abnormality of speech or vocalization	57492	ARID1B	OMIM:135900
HP:0002167	Abnormality of speech or vocalization	7518	XRCC4	OMIM:616541
HP:0002167	Abnormality of speech or vocalization	4193	MDM2	OMIM:618681
HP:0002167	Abnormality of speech or vocalization	5116	PCNT	ORPHA:2637
HP:0002167	Abnormality of speech or vocalization	5116	PCNT	OMIM:210720
HP:0002167	Abnormality of speech or vocalization	51594	NBAS	OMIM:614800
HP:0002167	Abnormality of speech or vocalization	63901	FAM111A	OMIM:127000
HP:0002167	Abnormality of speech or vocalization	63901	FAM111A	ORPHA:93325
HP:0002167	Abnormality of speech or vocalization	2072	ERCC4	OMIM:610965
HP:0002167	Abnormality of speech or vocalization	9927	MFN2	OMIM:617087
HP:0002167	Abnormality of speech or vocalization	5424	POLD1	OMIM:615381
HP:0002167	Abnormality of speech or vocalization	1501	CTNND2	ORPHA:281
HP:0002167	Abnormality of speech or vocalization	9037	SEMA5A	ORPHA:281
HP:0002167	Abnormality of speech or vocalization	127833	SYT2	OMIM:619461
HP:0002167	Abnormality of speech or vocalization	1140	CHRNB1	OMIM:616313
HP:0002167	Abnormality of speech or vocalization	5000	ORC4	OMIM:613800
HP:0002167	Abnormality of speech or vocalization	25886	POC1A	OMIM:614813
HP:0002167	Abnormality of speech or vocalization	871	SERPINH1	OMIM:613848
HP:0002167	Abnormality of speech or vocalization	3480	IGF1R	OMIM:270450
HP:0002167	Abnormality of speech or vocalization	1374	CPT1A	ORPHA:156
HP:0002167	Abnormality of speech or vocalization	23394	ADNP	ORPHA:404448
HP:0002167	Abnormality of speech or vocalization	4621	MYH3	ORPHA:2053
HP:0002167	Abnormality of speech or vocalization	161582	DNAAF4	OMIM:127700
HP:0002167	Abnormality of speech or vocalization	3766	KCNJ10	ORPHA:705
HP:0002167	Abnormality of speech or vocalization	2299	FOXI1	ORPHA:705
HP:0002167	Abnormality of speech or vocalization	5172	SLC26A4	ORPHA:705
HP:0002167	Abnormality of speech or vocalization	6916	TBXAS1	ORPHA:1802
HP:0002167	Abnormality of speech or vocalization	51	ACOX1	ORPHA:2971
HP:0002167	Abnormality of speech or vocalization	4072	EPCAM	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	4292	MLH1	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	5395	PMS2	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	27030	MLH3	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	22909	FAN1	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	7048	TGFBR2	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	5290	PIK3CA	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	5290	PIK3CA	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	2956	MSH6	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	5378	PMS1	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	4436	MSH2	ORPHA:144
HP:0002167	Abnormality of speech or vocalization	64218	SEMA4A	ORPHA:440437
HP:0002167	Abnormality of speech or vocalization	657	BMPR1A	ORPHA:440437
HP:0002167	Abnormality of speech or vocalization	6224	RPS20	ORPHA:440437
HP:0002167	Abnormality of speech or vocalization	22880	MORC2	ORPHA:466768
HP:0002167	Abnormality of speech or vocalization	4552	MTRR	ORPHA:2169
HP:0002167	Abnormality of speech or vocalization	100996717	NOTCH2NLC	ORPHA:2289
HP:0002167	Abnormality of speech or vocalization	224	ALDH3A2	ORPHA:816
HP:0002167	Abnormality of speech or vocalization	2314	FLII	ORPHA:819
HP:0002167	Abnormality of speech or vocalization	10743	RAI1	ORPHA:819
HP:0002167	Abnormality of speech or vocalization	10522	DEAF1	ORPHA:819
HP:0002167	Abnormality of speech or vocalization	5818	NECTIN1	ORPHA:3253
HP:0002167	Abnormality of speech or vocalization	4758	NEU1	ORPHA:812
HP:0002167	Abnormality of speech or vocalization	51114	ZDHHC9	ORPHA:776
HP:0002167	Abnormality of speech or vocalization	65109	UPF3B	ORPHA:776
HP:0002167	Abnormality of speech or vocalization	9968	MED12	ORPHA:776
HP:0002167	Abnormality of speech or vocalization	2895	GRID2	ORPHA:363432
HP:0002167	Abnormality of speech or vocalization	3039	HBA1	ORPHA:98791
HP:0002167	Abnormality of speech or vocalization	3040	HBA2	ORPHA:98791
HP:0002167	Abnormality of speech or vocalization	215	ABCD1	ORPHA:139396
HP:0002167	Abnormality of speech or vocalization	10352	WARS2	OMIM:617710
HP:0002167	Abnormality of speech or vocalization	10352	WARS2	ORPHA:572798
HP:0002167	Abnormality of speech or vocalization	3034	HAL	ORPHA:2157
HP:0002167	Abnormality of speech or vocalization	55157	DARS2	ORPHA:137898
HP:0002167	Abnormality of speech or vocalization	5604	MAP2K1	ORPHA:1340
HP:0002167	Abnormality of speech or vocalization	5605	MAP2K2	ORPHA:1340
HP:0002167	Abnormality of speech or vocalization	673	BRAF	ORPHA:1340
HP:0002167	Abnormality of speech or vocalization	84100	ARL6	OMIM:209900
HP:0002167	Abnormality of speech or vocalization	84100	ARL6	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	79140	CCDC28B	OMIM:209900
HP:0002167	Abnormality of speech or vocalization	582	BBS1	OMIM:209900
HP:0002167	Abnormality of speech or vocalization	582	BBS1	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	2911	GRM1	ORPHA:324262
HP:0002167	Abnormality of speech or vocalization	2138	EYA1	ORPHA:2792
HP:0002167	Abnormality of speech or vocalization	5075	PAX1	ORPHA:2792
HP:0002167	Abnormality of speech or vocalization	8200	GDF5	ORPHA:968
HP:0002167	Abnormality of speech or vocalization	773	CACNA1A	ORPHA:569
HP:0002167	Abnormality of speech or vocalization	112476	PRRT2	ORPHA:569
HP:0002167	Abnormality of speech or vocalization	112476	PRRT2	ORPHA:98810
HP:0002167	Abnormality of speech or vocalization	6323	SCN1A	ORPHA:569
HP:0002167	Abnormality of speech or vocalization	477	ATP1A2	ORPHA:569
HP:0002167	Abnormality of speech or vocalization	8260	NAA10	ORPHA:568
HP:0002167	Abnormality of speech or vocalization	54880	BCOR	ORPHA:568
HP:0002167	Abnormality of speech or vocalization	6898	TAT	ORPHA:28378
HP:0002167	Abnormality of speech or vocalization	7274	TTPA	ORPHA:96
HP:0002167	Abnormality of speech or vocalization	54476	RNF216	ORPHA:1173
HP:0002167	Abnormality of speech or vocalization	7852	CXCR4	ORPHA:51636
HP:0002167	Abnormality of speech or vocalization	4330	MN1	OMIM:618774
HP:0002167	Abnormality of speech or vocalization	4126	MANBA	OMIM:248510
HP:0002167	Abnormality of speech or vocalization	2475	MTOR	ORPHA:457485
HP:0002167	Abnormality of speech or vocalization	7020	TFAP2A	ORPHA:1297
HP:0002167	Abnormality of speech or vocalization	175	AGA	ORPHA:93
HP:0002167	Abnormality of speech or vocalization	64374	SIL1	ORPHA:559
HP:0002167	Abnormality of speech or vocalization	51763	INPP5K	ORPHA:559
HP:0002167	Abnormality of speech or vocalization	383	ARG1	ORPHA:90
HP:0002167	Abnormality of speech or vocalization	2629	GBA1	OMIM:231000
HP:0002167	Abnormality of speech or vocalization	25953	PNKD	ORPHA:98810
HP:0002167	Abnormality of speech or vocalization	23476	BRD4	ORPHA:199
HP:0002167	Abnormality of speech or vocalization	25836	NIPBL	ORPHA:199
HP:0002167	Abnormality of speech or vocalization	5885	RAD21	ORPHA:199
HP:0002167	Abnormality of speech or vocalization	92482	BBIP1	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	80184	CEP290	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	11020	IFT27	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	49855	SCAPER	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	4867	NPHP1	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	51057	WDPCP	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	27241	BBS9	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	84984	CEP19	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	22954	TRIM32	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	54903	MKS1	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	79738	BBS10	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	123016	TTC8	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	26160	IFT172	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	583	BBS2	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	585	BBS4	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	8195	MKKS	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	54585	LZTFL1	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	55212	BBS7	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	166379	BBS12	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	10806	SDCCAG8	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	157657	CFAP418	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	129880	BBS5	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	80173	IFT74	ORPHA:110
HP:0002167	Abnormality of speech or vocalization	6197	RPS6KA3	ORPHA:192
HP:0002167	Abnormality of speech or vocalization	157680	VPS13B	ORPHA:193
HP:0002167	Abnormality of speech or vocalization	6711	SPTBN1	OMIM:619475
HP:0002167	Abnormality of speech or vocalization	2332	FMR1	ORPHA:908
HP:0002167	Abnormality of speech or vocalization	6804	STX1A	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	7461	CLIP2	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	84277	DNAJC30	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	8468	FKBP6	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	5982	RFC2	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	2969	GTF2I	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	3984	LIMK1	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	9569	GTF2IRD1	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	155382	VPS37D	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	155368	METTL27	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	114049	BUD23	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	7458	EIF4H	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	84163	GTF2IRD2	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	9275	BCL7B	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	26608	TBL2	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	653361	NCF1	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	135886	TMEM270	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	51085	MLXIPL	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	9031	BAZ1B	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	2006	ELN	ORPHA:904
HP:0002167	Abnormality of speech or vocalization	8314	BAP1	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	4771	NF2	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	6598	SMARCB1	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	5155	PDGFB	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	84231	TRAF7	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	6608	SMO	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	207	AKT1	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	7015	TERT	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	51684	SUFU	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	6605	SMARCE1	ORPHA:2495
HP:0002167	Abnormality of speech or vocalization	5728	PTEN	ORPHA:109
HP:0002167	Abnormality of speech or vocalization	7305	TYROBP	ORPHA:2770
HP:0002167	Abnormality of speech or vocalization	7305	TYROBP	OMIM:221770
HP:0002167	Abnormality of speech or vocalization	6899	TBX1	ORPHA:1727
HP:0002167	Abnormality of speech or vocalization	7040	TGFB1	ORPHA:1328
HP:0002167	Abnormality of speech or vocalization	148789	B3GALNT2	ORPHA:588
HP:0002167	Abnormality of speech or vocalization	2218	FKTN	ORPHA:588
HP:0002167	Abnormality of speech or vocalization	55624	POMGNT1	ORPHA:588
HP:0002167	Abnormality of speech or vocalization	2624	GATA2	ORPHA:3226
HP:0002167	Abnormality of speech or vocalization	472	ATM	ORPHA:100
HP:0002167	Abnormality of speech or vocalization	80208	SPG11	ORPHA:300605
HP:0002167	Abnormality of speech or vocalization	10280	SIGMAR1	ORPHA:300605
HP:0002167	Abnormality of speech or vocalization	10558	SPTLC1	ORPHA:300605
HP:0002167	Abnormality of speech or vocalization	57679	ALS2	ORPHA:300605
HP:0002167	Abnormality of speech or vocalization	57679	ALS2	OMIM:205100
HP:0002167	Abnormality of speech or vocalization	2312	FLG	ORPHA:461
HP:0002167	Abnormality of speech or vocalization	412	STS	ORPHA:461
HP:0002167	Abnormality of speech or vocalization	22	ABCB7	ORPHA:2802
HP:0002167	Abnormality of speech or vocalization	8450	CUL4B	ORPHA:85293
HP:0002167	Abnormality of speech or vocalization	23175	LPIN1	ORPHA:99845
HP:0002167	Abnormality of speech or vocalization	4512	MT-CO1	ORPHA:99845
HP:0002167	Abnormality of speech or vocalization	4514	MT-CO3	ORPHA:99845
HP:0002167	Abnormality of speech or vocalization	55906	ZC4H2	ORPHA:3454
HP:0002167	Abnormality of speech or vocalization	6785	ELOVL4	ORPHA:1955
HP:0002167	Abnormality of speech or vocalization	2271	FH	OMIM:606812
HP:0002167	Abnormality of speech or vocalization	1650	DDOST	ORPHA:300536
HP:0002167	Abnormality of speech or vocalization	5295	PIK3R1	ORPHA:3163
HP:0002167	Abnormality of speech or vocalization	2239	GPC4	ORPHA:373
HP:0002167	Abnormality of speech or vocalization	2719	GPC3	ORPHA:373
HP:0002167	Abnormality of speech or vocalization	4508	MT-ATP6	ORPHA:225154
HP:0002167	Abnormality of speech or vocalization	23636	NUP62	ORPHA:225154
HP:0002167	Abnormality of speech or vocalization	103	ADAR	ORPHA:225154
HP:0002167	Abnormality of speech or vocalization	80025	PANK2	ORPHA:216873
HP:0002167	Abnormality of speech or vocalization	10273	STUB1	ORPHA:412057
HP:0002167	Abnormality of speech or vocalization	25974	MMACHC	ORPHA:79282
HP:0002167	Abnormality of speech or vocalization	22800	RRAS2	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	867	CBL	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	8216	LZTR1	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	6016	RIT1	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	6237	RRAS	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	5894	RAF1	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	22808	MRAS	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	200734	SPRED2	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	4893	NRAS	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	6654	SOS1	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	6655	SOS2	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	5781	PTPN11	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	5922	RASA2	ORPHA:648
HP:0002167	Abnormality of speech or vocalization	2055	CLN8	ORPHA:1947
HP:0002167	Abnormality of speech or vocalization	3593	IL12B	ORPHA:3287
HP:0002167	Abnormality of speech or vocalization	3106	HLA-B	ORPHA:3287
HP:0002167	Abnormality of speech or vocalization	6945	MLX	ORPHA:3287
HP:0002167	Abnormality of speech or vocalization	84876	ORAI1	ORPHA:3204
HP:0002167	Abnormality of speech or vocalization	6786	STIM1	ORPHA:3204
HP:0002167	Abnormality of speech or vocalization	2776	GNAQ	ORPHA:3205
HP:0002167	Abnormality of speech or vocalization	9897	WASHC5	ORPHA:7
HP:0002167	Abnormality of speech or vocalization	51733	UPB1	OMIM:613161
HP:0002167	Abnormality of speech or vocalization	10801	SEPTIN9	ORPHA:2901
HP:0002167	Abnormality of speech or vocalization	92609	TIMM50	ORPHA:505216
HP:0002167	Abnormality of speech or vocalization	219285	SAMD9L	ORPHA:2585
HP:0002167	Abnormality of speech or vocalization	80816	ASXL3	ORPHA:352577
HP:0002167	Abnormality of speech or vocalization	7187	TRAF3	ORPHA:1930
HP:0002167	Abnormality of speech or vocalization	81622	UNC93B1	ORPHA:1930
HP:0002167	Abnormality of speech or vocalization	148022	TICAM1	ORPHA:1930
HP:0002167	Abnormality of speech or vocalization	7098	TLR3	ORPHA:1930
HP:0002167	Abnormality of speech or vocalization	10908	PNPLA6	OMIM:215470
HP:0002167	Abnormality of speech or vocalization	1200	TPP1	ORPHA:284324
HP:0002167	Abnormality of speech or vocalization	1200	TPP1	OMIM:609270
HP:0002167	Abnormality of speech or vocalization	3708	ITPR1	OMIM:606658
HP:0002167	Abnormality of speech or vocalization	3708	ITPR1	ORPHA:1065
HP:0002167	Abnormality of speech or vocalization	25814	ATXN10	ORPHA:98761
HP:0002167	Abnormality of speech or vocalization	25814	ATXN10	OMIM:603516
HP:0002167	Abnormality of speech or vocalization	27235	COQ2	OMIM:607426
HP:0002167	Abnormality of speech or vocalization	5354	PLP1	OMIM:312080
HP:0002167	Abnormality of speech or vocalization	440193	CCDC88C	OMIM:616053
HP:0002167	Abnormality of speech or vocalization	440193	CCDC88C	ORPHA:423275
HP:0002167	Abnormality of speech or vocalization	1600	DAB1	ORPHA:363710
HP:0002167	Abnormality of speech or vocalization	1356	CP	OMIM:604290
HP:0002167	Abnormality of speech or vocalization	5080	PAX6	ORPHA:1065
HP:0002167	Abnormality of speech or vocalization	339453	TMEM240	OMIM:607454
HP:0002167	Abnormality of speech or vocalization	9570	GOSR2	OMIM:620166
HP:0002167	Abnormality of speech or vocalization	6310	ATXN1	OMIM:164400
HP:0002167	Abnormality of speech or vocalization	26278	SACS	OMIM:270550
HP:0002167	Abnormality of speech or vocalization	10166	SLC25A15	OMIM:238970
HP:0002167	Abnormality of speech or vocalization	3064	HTT	ORPHA:399
HP:0002167	Abnormality of speech or vocalization	6515	SLC2A3	ORPHA:399
HP:0002167	Abnormality of speech or vocalization	2512	FTL	OMIM:606159
HP:0002167	Abnormality of speech or vocalization	4137	MAPT	OMIM:601104
HP:0002167	Abnormality of speech or vocalization	4137	MAPT	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	4137	MAPT	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	56978	PRDM8	OMIM:616640
HP:0002167	Abnormality of speech or vocalization	56978	PRDM8	ORPHA:324290
HP:0002167	Abnormality of speech or vocalization	26040	SETBP1	ORPHA:436151
HP:0002167	Abnormality of speech or vocalization	79813	EHMT1	ORPHA:96147
HP:0002167	Abnormality of speech or vocalization	2521	FUS	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	8878	SQSTM1	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	8878	SQSTM1	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	8878	SQSTM1	OMIM:616437
HP:0002167	Abnormality of speech or vocalization	7415	VCP	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	7415	VCP	ORPHA:52430
HP:0002167	Abnormality of speech or vocalization	7415	VCP	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	7415	VCP	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	23435	TARDBP	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	29110	TBK1	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	29110	TBK1	OMIM:616439
HP:0002167	Abnormality of speech or vocalization	400916	CHCHD10	ORPHA:275872
HP:0002167	Abnormality of speech or vocalization	80704	SLC19A3	OMIM:607483
HP:0002167	Abnormality of speech or vocalization	6925	TCF4	ORPHA:2896
HP:0002167	Abnormality of speech or vocalization	478	ATP1A3	OMIM:128235
HP:0002167	Abnormality of speech or vocalization	478	ATP1A3	ORPHA:71517
HP:0002167	Abnormality of speech or vocalization	2896	GRN	OMIM:607485
HP:0002167	Abnormality of speech or vocalization	2896	GRN	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	2896	GRN	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	6792	CDKL5	ORPHA:3095
HP:0002167	Abnormality of speech or vocalization	22854	NTNG1	ORPHA:3095
HP:0002167	Abnormality of speech or vocalization	9568	GABBR2	ORPHA:3095
HP:0002167	Abnormality of speech or vocalization	4204	MECP2	ORPHA:3095
HP:0002167	Abnormality of speech or vocalization	8243	SMC1A	ORPHA:3095
HP:0002167	Abnormality of speech or vocalization	6595	SMARCA2	ORPHA:3051
HP:0002167	Abnormality of speech or vocalization	10479	SLC9A6	OMIM:300243
HP:0002167	Abnormality of speech or vocalization	10479	SLC9A6	ORPHA:85278
HP:0002167	Abnormality of speech or vocalization	1436	CSF1R	OMIM:618476
HP:0002167	Abnormality of speech or vocalization	1436	CSF1R	OMIM:221820
HP:0002167	Abnormality of speech or vocalization	150468	CKAP2L	ORPHA:3255
HP:0002167	Abnormality of speech or vocalization	3178	HNRNPA1	ORPHA:52430
HP:0002167	Abnormality of speech or vocalization	3181	HNRNPA2B1	ORPHA:52430
HP:0002167	Abnormality of speech or vocalization	5339	PLEC	ORPHA:257
HP:0002167	Abnormality of speech or vocalization	427	ASAH1	ORPHA:333
HP:0002167	Abnormality of speech or vocalization	25978	CHMP2B	OMIM:600795
HP:0002167	Abnormality of speech or vocalization	25978	CHMP2B	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	25978	CHMP2B	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	2733	GLE1	OMIM:611890
HP:0002167	Abnormality of speech or vocalization	5631	PRPS1	ORPHA:1187
HP:0002167	Abnormality of speech or vocalization	2260	FGFR1	ORPHA:2396
HP:0002167	Abnormality of speech or vocalization	3845	KRAS	ORPHA:2396
HP:0002167	Abnormality of speech or vocalization	9719	ADAMTSL2	ORPHA:1901
HP:0002167	Abnormality of speech or vocalization	9509	ADAMTS2	ORPHA:1901
HP:0002167	Abnormality of speech or vocalization	71	ACTG1	ORPHA:2995
HP:0002167	Abnormality of speech or vocalization	60	ACTB	ORPHA:2995
HP:0002167	Abnormality of speech or vocalization	5286	PIK3C2A	ORPHA:557003
HP:0002167	Abnormality of speech or vocalization	54539	NDUFB11	ORPHA:2556
HP:0002167	Abnormality of speech or vocalization	1349	COX7B	ORPHA:2556
HP:0002167	Abnormality of speech or vocalization	3052	HCCS	ORPHA:2556
HP:0002167	Abnormality of speech or vocalization	4700	NDUFA6	OMIM:618253
HP:0002167	Abnormality of speech or vocalization	5663	PSEN1	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	5663	PSEN1	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	54664	TMEM106B	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	54664	TMEM106B	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	54209	TREM2	ORPHA:275864
HP:0002167	Abnormality of speech or vocalization	54209	TREM2	ORPHA:100070
HP:0002167	Abnormality of speech or vocalization	2903	GRIN2A	ORPHA:98818
HP:0002167	Abnormality of speech or vocalization	139285	AMER1	ORPHA:2780
HP:0002167	Abnormality of speech or vocalization	6908	TBP	OMIM:607136
HP:0002167	Abnormality of speech or vocalization	2902	GRIN1	ORPHA:208447
HP:0002167	Abnormality of speech or vocalization	1278	COL1A2	ORPHA:1899
HP:0002167	Abnormality of speech or vocalization	1277	COL1A1	ORPHA:1899
HP:0002167	Abnormality of speech or vocalization	5538	PPT1	OMIM:256730
HP:0002167	Abnormality of speech or vocalization	138050	HGSNAT	OMIM:252930
HP:0002167	Abnormality of speech or vocalization	2760	GM2A	ORPHA:309246
HP:0002167	Abnormality of speech or vocalization	2760	GM2A	OMIM:272750
HP:0002167	Abnormality of speech or vocalization	10535	RNASEH2A	ORPHA:51
HP:0002167	Abnormality of speech or vocalization	84153	RNASEH2C	ORPHA:51
HP:0002167	Abnormality of speech or vocalization	25939	SAMHD1	ORPHA:51
HP:0002167	Abnormality of speech or vocalization	79621	RNASEH2B	ORPHA:51
HP:0002167	Abnormality of speech or vocalization	134353	LSM11	ORPHA:51
HP:0002167	Abnormality of speech or vocalization	10059	DNM1L	ORPHA:330050
HP:0002167	Abnormality of speech or vocalization	3747	KCNC2	OMIM:619913
HP:0002167	Abnormality of speech or vocalization	50814	NSDHL	ORPHA:251383
HP:0002167	Abnormality of speech or vocalization	51816	ADA2	ORPHA:820
HP:0002167	Abnormality of speech or vocalization	51816	ADA2	OMIM:615688
HP:0002167	Abnormality of speech or vocalization	7343	UBTF	ORPHA:500180
HP:0002167	Abnormality of speech or vocalization	84172	POLR1B	ORPHA:861
HP:0002167	Abnormality of speech or vocalization	9533	POLR1C	ORPHA:861
HP:0002167	Abnormality of speech or vocalization	51082	POLR1D	ORPHA:861
HP:0002167	Abnormality of speech or vocalization	6949	TCOF1	ORPHA:861
HP:0002167	Abnormality of speech or vocalization	50485	SMARCAL1	ORPHA:1830
HP:0002167	Abnormality of speech or vocalization	3897	L1CAM	OMIM:303350
HP:0002167	Abnormality of speech or vocalization	3897	L1CAM	ORPHA:2466
HP:0002167	Abnormality of speech or vocalization	4952	OCRL	ORPHA:534
HP:0002167	Abnormality of speech or vocalization	79944	L2HGDH	OMIM:236792
HP:0002167	Abnormality of speech or vocalization	79944	L2HGDH	ORPHA:79314
HP:0002167	Abnormality of speech or vocalization	4854	NOTCH3	ORPHA:136
HP:0002167	Abnormality of speech or vocalization	4694	NDUFA1	OMIM:301020
HP:0002167	Abnormality of speech or vocalization	1540	CYLD	OMIM:619132
HP:0002167	Abnormality of speech or vocalization	7072	TIA1	OMIM:619133
HP:0002167	Abnormality of speech or vocalization	6331	SCN5A	ORPHA:1344
HP:0002167	Abnormality of speech or vocalization	4878	NPPA	ORPHA:1344
HP:0002167	Abnormality of speech or vocalization	5664	PSEN2	ORPHA:1020
HP:0002167	Abnormality of speech or vocalization	10452	TOMM40	ORPHA:1020
HP:0002167	Abnormality of speech or vocalization	351	APP	ORPHA:1020
HP:0002167	Abnormality of speech or vocalization	10347	ABCA7	ORPHA:1020
HP:0002167	Abnormality of speech or vocalization	6653	SORL1	ORPHA:1020
HP:0002167	Abnormality of speech or vocalization	23732	FRRS1L	ORPHA:725
HP:0002167	Abnormality of speech or vocalization	546	ATRX	ORPHA:847
HP:0002167	Abnormality of speech or vocalization	1312	COMT	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	221037	JMJD1C	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	2812	GP1BB	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	6239	RREB1	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	7290	HIRA	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	9632	SEC24C	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	7353	UFD1	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	421	ARVCF	ORPHA:567
HP:0002167	Abnormality of speech or vocalization	3119	HLA-DQB1	OMIM:123400
HP:0002167	Abnormality of speech or vocalization	5654	HTRA1	OMIM:600142
HP:0002167	Abnormality of speech or vocalization	5649	RELN	ORPHA:101046
HP:0002167	Abnormality of speech or vocalization	9211	LGI1	ORPHA:101046
HP:0002167	Abnormality of speech or vocalization	9681	DEPDC5	ORPHA:101046
HP:0002167	Abnormality of speech or vocalization	11277	TREX1	ORPHA:247691
HP:0002167	Abnormality of speech or vocalization	3075	CFH	OMIM:235400
HP:0002167	Abnormality of speech or vocalization	3078	CFHR1	OMIM:235400
HP:0002167	Abnormality of speech or vocalization	10878	CFHR3	OMIM:235400
HP:0002167	Abnormality of speech or vocalization	5420	PODXL	ORPHA:391411
HP:0002167	Abnormality of speech or vocalization	7317	UBA1	ORPHA:1145
HP:0002167	Abnormality of speech or vocalization	8131	NPRL3	ORPHA:98820
HP:0002167	Abnormality of speech or vocalization	10641	NPRL2	ORPHA:98820
HP:0002167	Abnormality of speech or vocalization	25782	RAB3GAP2	ORPHA:401830
HP:0002167	Abnormality of speech or vocalization	5621	PRNP	ORPHA:282166
HP:0002167	Abnormality of speech or vocalization	87178	PNPT1	ORPHA:101111
HP:0002167	Abnormality of speech or vocalization	4099	MAG	OMIM:616680
HP:0002167	Abnormality of speech or vocalization	57704	GBA2	ORPHA:352641
HP:0002167	Abnormality of speech or vocalization	57704	GBA2	ORPHA:320391
HP:0002167	Abnormality of speech or vocalization	55775	TDP1	ORPHA:94124
HP:0002167	Abnormality of speech or vocalization	5190	PEX6	ORPHA:95433
HP:0002167	Abnormality of speech or vocalization	92935	MARS2	ORPHA:314603
HP:0002167	Abnormality of speech or vocalization	5832	ALDH18A1	ORPHA:447757
HP:0002167	Abnormality of speech or vocalization	5832	ALDH18A1	ORPHA:447753
HP:0002167	Abnormality of speech or vocalization	11160	ERLIN2	ORPHA:247604
HP:0002167	Abnormality of speech or vocalization	10939	AFG3L2	ORPHA:313772
HP:0002167	Abnormality of speech or vocalization	6843	VAMP1	ORPHA:251282
HP:0002167	Abnormality of speech or vocalization	84188	FAR1	ORPHA:447753
HP:0002167	Abnormality of speech or vocalization	11128	POLR3A	ORPHA:447896
HP:0002167	Abnormality of speech or vocalization	724066	ATXN8	ORPHA:98760
HP:0002167	Abnormality of speech or vocalization	6315	ATXN8OS	ORPHA:98760
HP:0002167	Abnormality of speech or vocalization	23111	SPART	ORPHA:101000
HP:0002167	Abnormality of speech or vocalization	51218	GLRX5	ORPHA:401866
HP:0002167	Abnormality of speech or vocalization	6687	SPG7	ORPHA:35689
HP:0002167	Abnormality of speech or vocalization	2705	GJB1	ORPHA:1175
HP:0002167	Abnormality of speech or vocalization	492	ATP2B3	ORPHA:314978
HP:0002167	Abnormality of speech or vocalization	353116	RILPL1	OMIM:619790
HP:0002167	Abnormality of speech or vocalization	11253	MAN1B1	ORPHA:397941
HP:0002167	Abnormality of speech or vocalization	57459	GATAD2B	OMIM:615074
HP:0002167	Abnormality of speech or vocalization	57459	GATAD2B	ORPHA:363686
HP:0002167	Abnormality of speech or vocalization	1859	DYRK1A	ORPHA:268261
HP:0002167	Abnormality of speech or vocalization	22856	CHSY1	ORPHA:363417
HP:0002167	Abnormality of speech or vocalization	55823	VPS11	OMIM:616683
HP:0002167	Abnormality of speech or vocalization	55823	VPS11	ORPHA:466934
HP:0002167	Abnormality of speech or vocalization	2132	EXT2	OMIM:616682
HP:0002167	Abnormality of speech or vocalization	51126	NAA20	OMIM:619717
HP:0002167	Abnormality of speech or vocalization	132	ADK	OMIM:614300
HP:0002167	Abnormality of speech or vocalization	60684	TRAPPC11	OMIM:615356
HP:0002167	Abnormality of speech or vocalization	4719	NDUFS1	OMIM:618226
HP:0002167	Abnormality of speech or vocalization	25821	MTO1	OMIM:614702
HP:0002167	Abnormality of speech or vocalization	6418	SET	OMIM:618106
HP:0002167	Abnormality of speech or vocalization	7109	TRAPPC10	OMIM:620027
HP:0002167	Abnormality of speech or vocalization	84942	WDR73	OMIM:251300
HP:0002167	Abnormality of speech or vocalization	79796	ALG9	OMIM:608776
HP:0002167	Abnormality of speech or vocalization	5279	PIGC	OMIM:617816
HP:0002167	Abnormality of speech or vocalization	3190	HNRNPK	ORPHA:453504
HP:0002167	Abnormality of speech or vocalization	3190	HNRNPK	OMIM:616580
HP:0002167	Abnormality of speech or vocalization	3190	HNRNPK	ORPHA:352665
HP:0002167	Abnormality of speech or vocalization	1120	CHKB	OMIM:602541
HP:0002167	Abnormality of speech or vocalization	57165	GJC2	OMIM:608804
HP:0002167	Abnormality of speech or vocalization	7707	ZNF148	OMIM:617260
HP:0002167	Abnormality of speech or vocalization	2593	GAMT	ORPHA:382
HP:0002167	Abnormality of speech or vocalization	2972	BRF1	ORPHA:444072
HP:0002167	Abnormality of speech or vocalization	6873	TAF2	ORPHA:397951
HP:0002167	Abnormality of speech or vocalization	6616	SNAP25	OMIM:616330
HP:0002167	Abnormality of speech or vocalization	443	ASPA	ORPHA:314918
HP:0002167	Abnormality of speech or vocalization	790	CAD	OMIM:616457
HP:0002167	Abnormality of speech or vocalization	4953	ODC1	ORPHA:544488
HP:0002167	Abnormality of speech or vocalization	10730	YME1L1	OMIM:617302
HP:0002167	Abnormality of speech or vocalization	25914	RTTN	OMIM:614833
HP:0002167	Abnormality of speech or vocalization	25914	RTTN	ORPHA:468631
HP:0002167	Abnormality of speech or vocalization	84197	POMK	OMIM:615249
HP:0002167	Abnormality of speech or vocalization	56623	INPP5E	ORPHA:75858
HP:0002167	Abnormality of speech or vocalization	11152	WDR45	ORPHA:329284
HP:0002167	Abnormality of speech or vocalization	11152	WDR45	OMIM:300894
HP:0002167	Abnormality of speech or vocalization	55768	NGLY1	ORPHA:404454
HP:0002167	Abnormality of speech or vocalization	526	ATP6V1B2	ORPHA:79499
HP:0002167	Abnormality of speech or vocalization	9126	SMC3	OMIM:610759
HP:0002167	Abnormality of speech or vocalization	26224	FBXL3	OMIM:606220
HP:0002167	Abnormality of speech or vocalization	6904	TBCD	ORPHA:496641
HP:0002167	Abnormality of speech or vocalization	90161	HS6ST2	OMIM:301025
HP:0002167	Abnormality of speech or vocalization	79158	GNPTAB	ORPHA:576
HP:0002167	Abnormality of speech or vocalization	29925	GMPPB	ORPHA:370968
HP:0002167	Abnormality of speech or vocalization	79147	FKRP	ORPHA:370968
HP:0002167	Abnormality of speech or vocalization	29954	POMT2	ORPHA:370968
HP:0002167	Abnormality of speech or vocalization	9215	LARGE1	ORPHA:370968
HP:0002167	Abnormality of speech or vocalization	10585	POMT1	ORPHA:370968
HP:0002167	Abnormality of speech or vocalization	7337	UBE3A	ORPHA:98794
HP:0002167	Abnormality of speech or vocalization	7337	UBE3A	ORPHA:98795
HP:0002167	Abnormality of speech or vocalization	7337	UBE3A	ORPHA:411515
HP:0002167	Abnormality of speech or vocalization	4948	OCA2	ORPHA:98794
HP:0002167	Abnormality of speech or vocalization	10559	SLC35A1	OMIM:603585
HP:0002167	Abnormality of speech or vocalization	56992	KIF15	ORPHA:261323
HP:0002167	Abnormality of speech or vocalization	51132	RLIM	OMIM:300978
HP:0002167	Abnormality of speech or vocalization	818	CAMK2G	OMIM:618522
HP:0002167	Abnormality of speech or vocalization	51116	MRPS2	OMIM:617950
HP:0002167	Abnormality of speech or vocalization	55572	FOXRED1	OMIM:618241
HP:0002167	Abnormality of speech or vocalization	80224	NUBPL	OMIM:618242
HP:0002167	Abnormality of speech or vocalization	8831	SYNGAP1	ORPHA:544254
HP:0002167	Abnormality of speech or vocalization	5119	CHMP1A	OMIM:614961
HP:0002167	Abnormality of speech or vocalization	1757	SARDH	ORPHA:3129
HP:0002167	Abnormality of speech or vocalization	10381	TUBB3	ORPHA:300570
HP:0002167	Abnormality of speech or vocalization	7436	VLDLR	OMIM:224050
HP:0002167	Abnormality of speech or vocalization	7994	KAT6A	ORPHA:457193
HP:0002167	Abnormality of speech or vocalization	81857	MED25	ORPHA:464738
HP:0002167	Abnormality of speech or vocalization	93986	FOXP2	ORPHA:209908
HP:0002167	Abnormality of speech or vocalization	51079	NDUFA13	OMIM:618249
HP:0002167	Abnormality of speech or vocalization	93627	TBCK	OMIM:616900
HP:0002167	Abnormality of speech or vocalization	29920	PYCR2	ORPHA:481152
HP:0002167	Abnormality of speech or vocalization	116442	RAB39B	OMIM:311510
HP:0002167	Abnormality of speech or vocalization	259232	NALCN	OMIM:615419
HP:0002167	Abnormality of speech or vocalization	23389	MED13L	ORPHA:369891
HP:0002167	Abnormality of speech or vocalization	23389	MED13L	OMIM:616789
HP:0002167	Abnormality of speech or vocalization	83480	PUS3	ORPHA:488627
HP:0002167	Abnormality of speech or vocalization	2626	GATA4	ORPHA:251071
HP:0002167	Abnormality of speech or vocalization	56776	FMN2	OMIM:616193
HP:0002167	Abnormality of speech or vocalization	7319	UBE2A	OMIM:300860
HP:0002167	Abnormality of speech or vocalization	7319	UBE2A	ORPHA:163956
HP:0002167	Abnormality of speech or vocalization	1605	DAG1	ORPHA:280333
HP:0002167	Abnormality of speech or vocalization	9839	ZEB2	ORPHA:261552
HP:0002167	Abnormality of speech or vocalization	9839	ZEB2	ORPHA:261537
HP:0002167	Abnormality of speech or vocalization	1193	CLIC2	ORPHA:324410
HP:0002167	Abnormality of speech or vocalization	10297	APC2	OMIM:617169
HP:0002167	Abnormality of speech or vocalization	5283	PIGH	OMIM:618010
HP:0002167	Abnormality of speech or vocalization	2257	FGF12	OMIM:617166
HP:0002167	Abnormality of speech or vocalization	3340	NDST1	OMIM:616116
HP:0002167	Abnormality of speech or vocalization	23152	CIC	OMIM:617600
HP:0002167	Abnormality of speech or vocalization	1729	DIAPH1	OMIM:616632
HP:0002167	Abnormality of speech or vocalization	84342	COG8	ORPHA:95428
HP:0002167	Abnormality of speech or vocalization	28514	DLL1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	28514	DLL1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	28514	DLL1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	28514	DLL1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	2253	FGF8	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	2253	FGF8	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	2253	FGF8	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	2253	FGF8	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	6496	SIX3	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	6496	SIX3	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	6496	SIX3	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	6496	SIX3	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	7050	TGIF1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	7050	TGIF1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	7050	TGIF1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	7050	TGIF1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	4838	NODAL	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	4838	NODAL	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	4838	NODAL	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	4838	NODAL	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	6469	SHH	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	6469	SHH	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	6469	SHH	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	6469	SHH	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	7546	ZIC2	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	7546	ZIC2	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	7546	ZIC2	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	7546	ZIC2	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	6491	STIL	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	6491	STIL	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	6491	STIL	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	6491	STIL	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	2619	GAS1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	2619	GAS1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	2619	GAS1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	2619	GAS1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	84976	DISP1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	84976	DISP1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	84976	DISP1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	84976	DISP1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	2736	GLI2	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	2736	GLI2	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	2736	GLI2	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	2736	GLI2	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	8928	FOXH1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	8928	FOXH1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	8928	FOXH1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	8928	FOXH1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	5727	PTCH1	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	5727	PTCH1	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	5727	PTCH1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	5727	PTCH1	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	50937	CDON	ORPHA:93926
HP:0002167	Abnormality of speech or vocalization	50937	CDON	ORPHA:93924
HP:0002167	Abnormality of speech or vocalization	50937	CDON	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	50937	CDON	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	8635	RNASET2	OMIM:612951
HP:0002167	Abnormality of speech or vocalization	84300	UQCC2	OMIM:615824
HP:0002167	Abnormality of speech or vocalization	23007	PLCH1	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	10735	STAG2	ORPHA:93925
HP:0002167	Abnormality of speech or vocalization	10735	STAG2	ORPHA:220386
HP:0002167	Abnormality of speech or vocalization	10382	TUBB4A	OMIM:612438
HP:0002167	Abnormality of speech or vocalization	1499	CTNNB1	ORPHA:404473
HP:0002167	Abnormality of speech or vocalization	11212	PLPBP	OMIM:617290
HP:0002167	Abnormality of speech or vocalization	388662	SLC6A17	ORPHA:457212
HP:0002167	Abnormality of speech or vocalization	5063	PAK3	OMIM:300558
HP:0002167	Abnormality of speech or vocalization	8905	AP1S2	ORPHA:85335
HP:0002167	Abnormality of speech or vocalization	163786	SASS6	OMIM:616402
HP:0002167	Abnormality of speech or vocalization	998	CDC42	ORPHA:487796
HP:0002167	Abnormality of speech or vocalization	9894	TELO2	ORPHA:488642
HP:0002167	Abnormality of speech or vocalization	4983	OPHN1	ORPHA:137831
HP:0002167	Abnormality of speech or vocalization	285175	UNC80	OMIM:616801
HP:0002167	Abnormality of speech or vocalization	85440	DOCK7	ORPHA:411986
HP:0002167	Abnormality of speech or vocalization	5590	PRKCZ	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	2563	GABRD	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	23013	SPEN	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	8510	MMP23B	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	7798	LUZP1	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	6497	SKI	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	10630	PDPN	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	3339	HSPG2	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	10277	UBE4B	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	8514	KCNAB2	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	473	RERE	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	63976	PRDM16	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	54897	CASZ1	ORPHA:1606
HP:0002167	Abnormality of speech or vocalization	10128	LRPPRC	ORPHA:70472
HP:0002167	Abnormality of speech or vocalization	26047	CNTNAP2	ORPHA:163681
HP:0002167	Abnormality of speech or vocalization	26047	CNTNAP2	OMIM:610042
HP:0002167	Abnormality of speech or vocalization	1737	DLAT	OMIM:245348
HP:0002167	Abnormality of speech or vocalization	55210	ATAD3A	ORPHA:496790
HP:0002167	Abnormality of speech or vocalization	7204	TRIO	OMIM:617061
HP:0002167	Abnormality of speech or vocalization	7204	TRIO	ORPHA:476126
HP:0002167	Abnormality of speech or vocalization	6857	SYT1	ORPHA:522077
HP:0002167	Abnormality of speech or vocalization	5058	PAK1	OMIM:618158
HP:0002167	Abnormality of speech or vocalization	2232	FDXR	ORPHA:543470
HP:0002167	Abnormality of speech or vocalization	28952	CCDC22	OMIM:300963
HP:0002167	Abnormality of speech or vocalization	81887	LAS1L	ORPHA:3459
HP:0002167	Abnormality of speech or vocalization	55869	HDAC8	ORPHA:3459
HP:0002167	Abnormality of speech or vocalization	57570	TRMT5	OMIM:616539
HP:0002167	Abnormality of speech or vocalization	23096	IQSEC2	OMIM:309530
HP:0002167	Abnormality of speech or vocalization	54112	GPR88	OMIM:616939
HP:0002167	Abnormality of speech or vocalization	93587	TRMT10A	ORPHA:391408
HP:0002167	Abnormality of speech or vocalization	84919	PPP1R15B	ORPHA:391408
HP:0002167	Abnormality of speech or vocalization	55691	FRMD4A	ORPHA:466688
HP:0002167	Abnormality of speech or vocalization	23314	SATB2	ORPHA:576283
HP:0002167	Abnormality of speech or vocalization	10717	AP4B1	ORPHA:280763
HP:0002167	Abnormality of speech or vocalization	9179	AP4M1	ORPHA:280763
HP:0002167	Abnormality of speech or vocalization	11154	AP4S1	ORPHA:280763
HP:0002167	Abnormality of speech or vocalization	23431	AP4E1	ORPHA:280763
HP:0002167	Abnormality of speech or vocalization	4841	NONO	ORPHA:466791
HP:0002167	Abnormality of speech or vocalization	23545	ATP6V0A2	ORPHA:357074
HP:0002167	Abnormality of speech or vocalization	523	ATP6V1A	ORPHA:357074
HP:0002167	Abnormality of speech or vocalization	529	ATP6V1E1	ORPHA:357074
HP:0002167	Abnormality of speech or vocalization	5528	PPP2R5D	ORPHA:457279
HP:0002167	Abnormality of speech or vocalization	55084	SOBP	OMIM:613671
HP:0002167	Abnormality of speech or vocalization	476	ATP1A1	ORPHA:564178
HP:0002167	Abnormality of speech or vocalization	2990	GUSB	OMIM:253220
HP:0002167	Abnormality of speech or vocalization	9928	KIF14	OMIM:617914
HP:0002167	Abnormality of speech or vocalization	5879	RAC1	ORPHA:500159
HP:0002167	Abnormality of speech or vocalization	162417	NAGS	ORPHA:927
HP:0002167	Abnormality of speech or vocalization	3458	IFNG	ORPHA:805
HP:0002167	Abnormality of speech or vocalization	7248	TSC1	ORPHA:805
HP:0002167	Abnormality of speech or vocalization	7249	TSC2	ORPHA:805
HP:0002167	Abnormality of speech or vocalization	284058	KANSL1	OMIM:610443
HP:0002167	Abnormality of speech or vocalization	11043	MID2	OMIM:300928
HP:0002167	Abnormality of speech or vocalization	9757	KMT2B	OMIM:619934
HP:0002167	Abnormality of speech or vocalization	64116	SLC39A8	ORPHA:468699
HP:0002167	Abnormality of speech or vocalization	54936	ADPRS	OMIM:618170
HP:0002167	Abnormality of speech or vocalization	26100	WIPI2	OMIM:618453
HP:0002167	Abnormality of speech or vocalization	8295	TRRAP	OMIM:618454
HP:0002167	Abnormality of speech or vocalization	1968	EIF2S3	OMIM:300148
HP:0002167	Abnormality of speech or vocalization	341208	HEPHL1	OMIM:261990
HP:0002167	Abnormality of speech or vocalization	4281	MID1	ORPHA:2745
HP:0002167	Abnormality of speech or vocalization	6878	TAF6	OMIM:617126
HP:0002167	Abnormality of speech or vocalization	5518	PPP2R1A	ORPHA:457284
HP:0002167	Abnormality of speech or vocalization	6638	SNRPN	ORPHA:411515
HP:0002167	Abnormality of speech or vocalization	57194	ATP10A	ORPHA:411515
HP:0002167	Abnormality of speech or vocalization	23516	SLC39A14	ORPHA:521406
HP:0002167	Abnormality of speech or vocalization	54808	DYM	ORPHA:239
HP:0002167	Abnormality of speech or vocalization	8565	YARS1	OMIM:619418
HP:0002167	Abnormality of speech or vocalization	6389	SDHA	ORPHA:3208
HP:0002167	Abnormality of speech or vocalization	6392	SDHD	ORPHA:3208
HP:0002167	Abnormality of speech or vocalization	644096	SDHAF1	ORPHA:3208
HP:0002167	Abnormality of speech or vocalization	9439	MED23	OMIM:614249
HP:0002167	Abnormality of speech or vocalization	10020	GNE	ORPHA:3166
HP:0002167	Abnormality of speech or vocalization	22827	PUF60	ORPHA:508488
HP:0002167	Abnormality of speech or vocalization	6472	SHMT2	OMIM:619121
HP:0002167	Abnormality of speech or vocalization	55186	SLC25A36	OMIM:620211
HP:0002167	Abnormality of speech or vocalization	171023	ASXL1	ORPHA:97297
HP:0002167	Abnormality of speech or vocalization	343641	TGM6	OMIM:613908
HP:0002167	Abnormality of speech or vocalization	343641	TGM6	ORPHA:276193
HP:0002167	Abnormality of speech or vocalization	5917	RARS1	OMIM:616140
HP:0002167	Abnormality of speech or vocalization	5917	RARS1	ORPHA:438114
HP:0002167	Abnormality of speech or vocalization	1593	CYP27A1	OMIM:213700
HP:0002167	Abnormality of speech or vocalization	9289	ADGRG1	ORPHA:98889
HP:0002167	Abnormality of speech or vocalization	5297	PI4KA	ORPHA:98889
HP:0002167	Abnormality of speech or vocalization	4001	LMNB1	OMIM:169500
HP:0002167	Abnormality of speech or vocalization	2583	B4GALNT1	ORPHA:101006
HP:0002167	Abnormality of speech or vocalization	116150	NUS1	OMIM:617082
HP:0002167	Abnormality of speech or vocalization	9896	FIG4	ORPHA:208441
HP:0002167	Abnormality of speech or vocalization	22872	SEC31A	OMIM:618651
HP:0002167	Abnormality of speech or vocalization	23503	ZFYVE26	ORPHA:100996
HP:0002167	Abnormality of speech or vocalization	6647	SOD1	OMIM:105400
HP:0002167	Abnormality of speech or vocalization	5630	PRPH	OMIM:105400
HP:0002167	Abnormality of speech or vocalization	1639	DCTN1	OMIM:105400
HP:0002167	Abnormality of speech or vocalization	4744	NEFH	OMIM:105400
HP:0002167	Abnormality of speech or vocalization	3145	HMBS	ORPHA:79276
HP:0002167	Abnormality of speech or vocalization	85465	SELENOI	ORPHA:506353
HP:0002167	Abnormality of speech or vocalization	10755	GIPC1	ORPHA:98897
HP:0002167	Abnormality of speech or vocalization	27286	SRPX2	ORPHA:163721
HP:0002167	Abnormality of speech or vocalization	7227	TRPS1	OMIM:190350
HP:0002167	Abnormality of speech or vocalization	2146	EZH2	OMIM:277590
HP:0002167	Abnormality of speech or vocalization	2146	EZH2	ORPHA:3447
HP:0002167	Abnormality of speech or vocalization	8726	EED	ORPHA:3447
HP:0002167	Abnormality of speech or vocalization	23512	SUZ12	ORPHA:3447
HP:0002167	Abnormality of speech or vocalization	51324	SPG21	ORPHA:101001
HP:0002167	Abnormality of speech or vocalization	55553	SOX6	OMIM:618971
HP:0002167	Abnormality of speech or vocalization	2259	FGF14	ORPHA:98764
HP:0002167	Abnormality of speech or vocalization	7314	UBB	ORPHA:99772
HP:0002167	Abnormality of speech or vocalization	57822	GRHL3	ORPHA:99772
HP:0002167	Abnormality of speech or vocalization	7840	ALMS1	ORPHA:64
HP:0002167	Abnormality of speech or vocalization	201163	FLCN	OMIM:610883
HP:0002167	Abnormality of speech or vocalization	27161	AGO2	OMIM:619149
HP:0002167	Abnormality of speech or vocalization	10079	ATP9A	OMIM:620242
HP:0002167	Abnormality of speech or vocalization	4558	MT-TF	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4572	MT-TQ	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4513	MT-CO2	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4578	MT-TW	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4540	MT-ND5	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4541	MT-ND6	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4535	MT-ND1	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4538	MT-ND4	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4567	MT-TL1	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4574	MT-TS1	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4575	MT-TS2	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	4564	MT-TH	ORPHA:550
HP:0002167	Abnormality of speech or vocalization	3074	HEXB	ORPHA:309169
HP:0002167	Abnormality of speech or vocalization	340533	NEXMIF	OMIM:300912
HP:0002167	Abnormality of speech or vocalization	64324	NSD1	OMIM:117550
HP:0002167	Abnormality of speech or vocalization	6999	TDO2	OMIM:600627
HP:0002167	Abnormality of speech or vocalization	1107	CHD3	OMIM:618205
HP:0002167	Abnormality of speech or vocalization	57410	SCYL1	OMIM:616719
HP:0002167	Abnormality of speech or vocalization	57410	SCYL1	ORPHA:466794
HP:0002167	Abnormality of speech or vocalization	4536	MT-ND2	ORPHA:255210
HP:0002167	Abnormality of speech or vocalization	4537	MT-ND3	ORPHA:255210
HP:0002167	Abnormality of speech or vocalization	4577	MT-TV	ORPHA:255210
HP:0002167	Abnormality of speech or vocalization	4566	MT-TK	ORPHA:255210
HP:0002167	Abnormality of speech or vocalization	23317	DNAJC13	ORPHA:411602
HP:0002167	Abnormality of speech or vocalization	1981	EIF4G1	ORPHA:411602
HP:0002167	Abnormality of speech or vocalization	55737	VPS35	ORPHA:411602
HP:0002167	Abnormality of speech or vocalization	120892	LRRK2	ORPHA:411602
HP:0002167	Abnormality of speech or vocalization	26058	GIGYF2	ORPHA:411602
HP:0002168	Scanning speech	10908	PNPLA6	OMIM:215470
HP:0002168	Scanning speech	1200	TPP1	ORPHA:284324
HP:0002168	Scanning speech	1200	TPP1	OMIM:609270
HP:0002168	Scanning speech	3708	ITPR1	OMIM:606658
HP:0002168	Scanning speech	3708	ITPR1	ORPHA:1065
HP:0002168	Scanning speech	25814	ATXN10	ORPHA:98761
HP:0002168	Scanning speech	25814	ATXN10	OMIM:603516
HP:0002168	Scanning speech	27235	COQ2	OMIM:607426
HP:0002168	Scanning speech	5354	PLP1	OMIM:312080
HP:0002168	Scanning speech	440193	CCDC88C	OMIM:616053
HP:0002168	Scanning speech	440193	CCDC88C	ORPHA:423275
HP:0002168	Scanning speech	1600	DAB1	ORPHA:363710
HP:0002168	Scanning speech	1356	CP	OMIM:604290
HP:0002168	Scanning speech	5080	PAX6	ORPHA:1065
HP:0002168	Scanning speech	339453	TMEM240	OMIM:607454
HP:0002168	Scanning speech	9570	GOSR2	OMIM:620166
HP:0002168	Scanning speech	6310	ATXN1	OMIM:164400
HP:0002168	Scanning speech	26278	SACS	OMIM:270550
HP:0002168	Scanning speech	10166	SLC25A15	OMIM:238970
HP:0002169	Clonus	23064	SETX	OMIM:602433
HP:0002169	Clonus	10749	KIF1C	ORPHA:397946
HP:0002169	Clonus	3064	HTT	ORPHA:399
HP:0002169	Clonus	6515	SLC2A3	ORPHA:399
HP:0002169	Clonus	5091	PC	OMIM:266150
HP:0002169	Clonus	9897	WASHC5	ORPHA:100989
HP:0002169	Clonus	9197	SLC33A1	ORPHA:171863
HP:0002169	Clonus	9853	RUSC2	OMIM:617773
HP:0002169	Clonus	10367	MICU1	OMIM:615673
HP:0002169	Clonus	51501	HIKESHI	OMIM:616881
HP:0002169	Clonus	6711	SPTBN1	OMIM:619475
HP:0002169	Clonus	23446	SLC44A1	OMIM:618868
HP:0002169	Clonus	22948	CCT5	ORPHA:139578
HP:0002169	Clonus	22948	CCT5	OMIM:256840
HP:0002169	Clonus	92609	TIMM50	OMIM:617698
HP:0002169	Clonus	92609	TIMM50	ORPHA:505216
HP:0002169	Clonus	51091	SEPSECS	OMIM:613811
HP:0002169	Clonus	10613	ERLIN1	ORPHA:401785
HP:0002169	Clonus	10613	ERLIN1	OMIM:615681
HP:0002169	Clonus	23503	ZFYVE26	OMIM:270700
HP:0002169	Clonus	123606	NIPA1	OMIM:600363
HP:0002169	Clonus	29925	GMPPB	ORPHA:370959
HP:0002169	Clonus	79147	FKRP	ORPHA:370959
HP:0002169	Clonus	29954	POMT2	ORPHA:370959
HP:0002169	Clonus	84197	POMK	ORPHA:370959
HP:0002169	Clonus	55624	POMGNT1	ORPHA:370959
HP:0002169	Clonus	10585	POMT1	ORPHA:370959
HP:0002169	Clonus	5631	PRPS1	ORPHA:423479
HP:0002169	Clonus	2521	FUS	ORPHA:300605
HP:0002169	Clonus	80208	SPG11	ORPHA:300605
HP:0002169	Clonus	10280	SIGMAR1	ORPHA:300605
HP:0002169	Clonus	10558	SPTLC1	ORPHA:300605
HP:0002169	Clonus	57679	ALS2	ORPHA:300605
HP:0002169	Clonus	57679	ALS2	OMIM:205100
HP:0002169	Clonus	3785	KCNQ2	ORPHA:1949
HP:0002169	Clonus	3786	KCNQ3	ORPHA:1949
HP:0002169	Clonus	6567	SLC16A2	OMIM:300523
HP:0002169	Clonus	6536	SLC6A9	OMIM:617301
HP:0002169	Clonus	51506	UFC1	OMIM:618076
HP:0002169	Clonus	1841	DTYMK	OMIM:619847
HP:0002169	Clonus	271	AMPD2	OMIM:615686
HP:0002169	Clonus	271	AMPD2	OMIM:615809
HP:0002169	Clonus	9409	PEX16	OMIM:614877
HP:0002169	Clonus	9440	MED17	OMIM:613668
HP:0002169	Clonus	25782	RAB3GAP2	OMIM:212720
HP:0002169	Clonus	57582	KCNT1	OMIM:614959
HP:0002169	Clonus	4952	OCRL	ORPHA:534
HP:0002169	Clonus	1759	DNM1	OMIM:620352
HP:0002169	Clonus	10166	SLC25A15	ORPHA:415
HP:0002169	Clonus	10166	SLC25A15	OMIM:238970
HP:0002169	Clonus	9101	USP8	ORPHA:401795
HP:0002169	Clonus	11117	EMILIN1	OMIM:620080
HP:0002169	Clonus	137492	VPS37A	ORPHA:319199
HP:0002169	Clonus	137492	VPS37A	OMIM:614898
HP:0002169	Clonus	22906	TRAK1	OMIM:618201
HP:0002169	Clonus	100131801	PET100	OMIM:619055
HP:0002169	Clonus	51227	PIGP	OMIM:617599
HP:0002169	Clonus	80746	TSEN2	OMIM:612389
HP:0002169	Clonus	819	CAMLG	OMIM:620201
HP:0002169	Clonus	4693	NDP	ORPHA:649
HP:0002169	Clonus	6509	SLC1A4	ORPHA:447997
HP:0002169	Clonus	128989	TANGO2	ORPHA:480864
HP:0002169	Clonus	128989	TANGO2	OMIM:616878
HP:0002169	Clonus	2801	GOLGA2	OMIM:620240
HP:0002169	Clonus	28962	OSTM1	OMIM:259720
HP:0002169	Clonus	5805	PTS	ORPHA:13
HP:0002169	Clonus	22	ABCB7	OMIM:301310
HP:0002169	Clonus	6253	RTN2	ORPHA:100993
HP:0002169	Clonus	51271	UBAP1	ORPHA:100993
HP:0002169	Clonus	857	CAV1	OMIM:606721
HP:0002169	Clonus	3839	KPNA3	ORPHA:171612
HP:0002169	Clonus	23028	KDM1A	ORPHA:477993
HP:0002169	Clonus	4633	MYL2	OMIM:619424
HP:0002169	Clonus	58497	PRUNE1	OMIM:617481
HP:0002169	Clonus	58497	PRUNE1	ORPHA:544469
HP:0002169	Clonus	133686	NADK2	OMIM:616034
HP:0002169	Clonus	246243	RNASEH1	OMIM:616479
HP:0002169	Clonus	27429	HTRA2	OMIM:617248
HP:0002169	Clonus	221927	BRAT1	OMIM:614498
HP:0002169	Clonus	89874	SLC25A21	OMIM:618811
HP:0002169	Clonus	4001	LMNB1	ORPHA:99027
HP:0002169	Clonus	11160	ERLIN2	ORPHA:280384
HP:0002169	Clonus	11160	ERLIN2	ORPHA:209951
HP:0002169	Clonus	11160	ERLIN2	OMIM:611225
HP:0002169	Clonus	85465	SELENOI	ORPHA:506353
HP:0002169	Clonus	85465	SELENOI	OMIM:618768
HP:0002169	Clonus	51062	ATL1	ORPHA:100984
HP:0002169	Clonus	4728	NDUFS8	OMIM:618222
HP:0002169	Clonus	55697	VAC14	OMIM:617054
HP:0002169	Clonus	56006	SMG9	OMIM:619995
HP:0002169	Clonus	10159	ATP6AP2	ORPHA:363654
HP:0002169	Clonus	6683	SPAST	ORPHA:100985
HP:0002169	Clonus	51604	PIGT	OMIM:615398
HP:0002169	Clonus	9420	CYP7B1	ORPHA:100986
HP:0002169	Clonus	23516	SLC39A14	OMIM:617013
HP:0002169	Clonus	23516	SLC39A14	ORPHA:521406
HP:0002169	Clonus	23345	SYNE1	ORPHA:88644
HP:0002169	Clonus	22931	RAB18	OMIM:614222
HP:0002169	Clonus	1593	CYP27A1	OMIM:213700
HP:0002169	Clonus	959	CD40LG	OMIM:308230
HP:0002169	Clonus	64837	KLC2	OMIM:609541
HP:0002169	Clonus	2258	FGF13	OMIM:301058
HP:0002169	Clonus	440193	CCDC88C	OMIM:616053
HP:0002169	Clonus	6647	SOD1	OMIM:618598
HP:0002169	Clonus	84340	GFM2	OMIM:618397
HP:0002169	Clonus	84340	GFM2	ORPHA:565624
HP:0002169	Clonus	79152	FA2H	ORPHA:171629
HP:0002169	Clonus	79152	FA2H	OMIM:612319
HP:0002169	Clonus	10273	STUB1	OMIM:615768
HP:0002169	Clonus	10273	STUB1	ORPHA:412057
HP:0002169	Clonus	547	KIF1A	OMIM:610357
HP:0002169	Clonus	9338	TCEAL1	OMIM:301094
HP:0002169	Clonus	5456	POU3F4	ORPHA:1435
HP:0002169	Clonus	55129	ANO10	ORPHA:284289
HP:0002169	Clonus	16	AARS1	OMIM:619691
HP:0002169	Clonus	219285	SAMD9L	OMIM:159550
HP:0002169	Clonus	9289	ADGRG1	OMIM:606854
HP:0002169	Clonus	7345	UCHL1	OMIM:615491
HP:0002169	Clonus	215	ABCD1	ORPHA:139396
HP:0002169	Clonus	118813	ZFYVE27	OMIM:610244
HP:0002169	Clonus	7415	VCP	OMIM:613954
HP:0002169	Clonus	2581	GALC	ORPHA:206436
HP:0002169	Clonus	5660	PSAP	ORPHA:206436
HP:0002169	Clonus	1678	TIMM8A	ORPHA:52368
HP:0002169	Clonus	6712	SPTBN2	OMIM:600224
HP:0002169	Clonus	823	CAPN1	ORPHA:488594
HP:0002169	Clonus	5297	PI4KA	OMIM:619621
HP:0002169	Clonus	833	CARS1	OMIM:618891
HP:0002169	Clonus	65055	REEP1	OMIM:610250
HP:0002169	Clonus	8398	PLA2G6	OMIM:612953
HP:0002169	Clonus	23111	SPART	OMIM:275900
HP:0002169	Clonus	57704	GBA2	OMIM:614409
HP:0002169	Clonus	3798	KIF5A	OMIM:604187
HP:0002169	Clonus	113278	SLC52A3	OMIM:211530
HP:0002169	Clonus	91574	MTRFR	OMIM:615035
HP:0012385	Camptodactyly	64093	SMOC1	OMIM:206920
HP:0012385	Camptodactyly	64093	SMOC1	ORPHA:1106
HP:0012385	Camptodactyly	1832	DSP	ORPHA:158687
HP:0012385	Camptodactyly	3728	JUP	ORPHA:158687
HP:0012385	Camptodactyly	91179	SCARF2	OMIM:600920
HP:0012385	Camptodactyly	2737	GLI3	OMIM:175700
HP:0012385	Camptodactyly	84295	PHF6	ORPHA:127
HP:0012385	Camptodactyly	4313	MMP2	OMIM:259600
HP:0012385	Camptodactyly	55628	ZNF407	OMIM:619557
HP:0012385	Camptodactyly	23219	FBXO28	OMIM:619777
HP:0012385	Camptodactyly	84265	POLR3GL	OMIM:619234
HP:0012385	Camptodactyly	29072	SETD2	ORPHA:821
HP:0012385	Camptodactyly	10297	APC2	ORPHA:821
HP:0012385	Camptodactyly	51305	KCNK9	ORPHA:166108
HP:0012385	Camptodactyly	22880	MORC2	ORPHA:466768
HP:0012385	Camptodactyly	825	CAPN3	ORPHA:267
HP:0012385	Camptodactyly	113179	ADAT3	ORPHA:363528
HP:0012385	Camptodactyly	7043	TGFB3	OMIM:615582
HP:0012385	Camptodactyly	10765	KDM5B	OMIM:618109
HP:0012385	Camptodactyly	10093	ARPC4	OMIM:620141
HP:0012385	Camptodactyly	11011	TLK2	OMIM:618050
HP:0012385	Camptodactyly	80816	ASXL3	OMIM:615485
HP:0012385	Camptodactyly	81857	MED25	ORPHA:464738
HP:0012385	Camptodactyly	1277	COL1A1	OMIM:130060
HP:0012385	Camptodactyly	6909	TBX2	OMIM:618223
HP:0012385	Camptodactyly	23327	NEDD4L	OMIM:617201
HP:0012385	Camptodactyly	8985	PLOD3	OMIM:612394
HP:0012385	Camptodactyly	91754	NEK9	OMIM:614262
HP:0012385	Camptodactyly	775	CACNA1C	OMIM:620029
HP:0012385	Camptodactyly	3008	H1-4	OMIM:617537
HP:0012385	Camptodactyly	5830	PEX5	OMIM:214110
HP:0012385	Camptodactyly	5447	POR	ORPHA:95699
HP:0012385	Camptodactyly	5447	POR	OMIM:201750
HP:0012385	Camptodactyly	5447	POR	OMIM:207410
HP:0012385	Camptodactyly	4649	MYO9A	OMIM:618198
HP:0012385	Camptodactyly	79158	GNPTAB	OMIM:252500
HP:0012385	Camptodactyly	9382	COG1	OMIM:611209
HP:0012385	Camptodactyly	57231	SNX14	ORPHA:397709
HP:0012385	Camptodactyly	57231	SNX14	OMIM:616354
HP:0012385	Camptodactyly	7125	TNNC2	OMIM:620161
HP:0012385	Camptodactyly	56992	KIF15	ORPHA:261323
HP:0012385	Camptodactyly	57589	RIC1	OMIM:618761
HP:0012385	Camptodactyly	1272	CNTN1	OMIM:612540
HP:0012385	Camptodactyly	9839	ZEB2	ORPHA:261552
HP:0012385	Camptodactyly	9839	ZEB2	ORPHA:261537
HP:0012385	Camptodactyly	80776	B9D2	OMIM:614175
HP:0012385	Camptodactyly	1954	MEGF8	OMIM:614976
HP:0012385	Camptodactyly	23314	SATB2	OMIM:612313
HP:0012385	Camptodactyly	2752	GLUL	OMIM:610015
HP:0012385	Camptodactyly	8642	DCHS1	OMIM:601390
HP:0012385	Camptodactyly	8642	DCHS1	ORPHA:314679
HP:0012385	Camptodactyly	79053	ALG8	OMIM:608104
HP:0012385	Camptodactyly	79053	ALG8	ORPHA:79325
HP:0012385	Camptodactyly	26227	PHGDH	OMIM:256520
HP:0012385	Camptodactyly	57167	SALL4	ORPHA:233
HP:0012385	Camptodactyly	1123	CHN1	ORPHA:233
HP:0012385	Camptodactyly	1798	DPAGT1	ORPHA:86309
HP:0012385	Camptodactyly	3572	IL6ST	OMIM:619751
HP:0012385	Camptodactyly	7862	BRPF1	OMIM:617333
HP:0012385	Camptodactyly	1001	CDH3	OMIM:225280
HP:0012385	Camptodactyly	5828	PEX2	OMIM:614866
HP:0012385	Camptodactyly	79228	THOC6	ORPHA:363444
HP:0012385	Camptodactyly	4094	MAF	ORPHA:1272
HP:0012385	Camptodactyly	4094	MAF	OMIM:601088
HP:0012385	Camptodactyly	4089	SMAD4	OMIM:139210
HP:0012385	Camptodactyly	163175	LGI4	OMIM:617468
HP:0012385	Camptodactyly	388015	RTL1	ORPHA:96334
HP:0012385	Camptodactyly	388015	RTL1	ORPHA:254528
HP:0012385	Camptodactyly	8788	DLK1	ORPHA:96334
HP:0012385	Camptodactyly	8788	DLK1	ORPHA:254528
HP:0012385	Camptodactyly	55384	MEG3	ORPHA:96334
HP:0012385	Camptodactyly	55384	MEG3	ORPHA:254528
HP:0012385	Camptodactyly	11107	PRDM5	ORPHA:90354
HP:0012385	Camptodactyly	84627	ZNF469	ORPHA:90354
HP:0012385	Camptodactyly	8626	TP63	OMIM:603543
HP:0012385	Camptodactyly	8813	DPM1	OMIM:608799
HP:0012385	Camptodactyly	8813	DPM1	ORPHA:79322
HP:0012385	Camptodactyly	79087	ALG12	ORPHA:79324
HP:0012385	Camptodactyly	171023	ASXL1	OMIM:605039
HP:0012385	Camptodactyly	26100	WIPI2	OMIM:618453
HP:0012385	Camptodactyly	8621	CDK13	OMIM:617360
HP:0012385	Camptodactyly	9427	ECEL1	OMIM:615065
HP:0012385	Camptodactyly	2702	GJA5	OMIM:612474
HP:0012385	Camptodactyly	2703	GJA8	OMIM:612474
HP:0012385	Camptodactyly	1801	DPH1	ORPHA:459061
HP:0012385	Camptodactyly	10075	HUWE1	OMIM:309590
HP:0012385	Camptodactyly	81848	SPRY4	ORPHA:432
HP:0012385	Camptodactyly	128674	PROKR2	ORPHA:432
HP:0012385	Camptodactyly	2253	FGF8	ORPHA:432
HP:0012385	Camptodactyly	60675	PROK2	ORPHA:432
HP:0012385	Camptodactyly	55636	CHD7	ORPHA:432
HP:0012385	Camptodactyly	6870	TACR3	ORPHA:432
HP:0012385	Camptodactyly	1848	DUSP6	ORPHA:432
HP:0012385	Camptodactyly	26012	NSMF	ORPHA:432
HP:0012385	Camptodactyly	55717	WDR11	ORPHA:432
HP:0012385	Camptodactyly	9394	HS6ST1	ORPHA:432
HP:0012385	Camptodactyly	2796	GNRH1	ORPHA:432
HP:0012385	Camptodactyly	2798	GNRHR	ORPHA:432
HP:0012385	Camptodactyly	84634	KISS1R	ORPHA:432
HP:0012385	Camptodactyly	6866	TAC3	ORPHA:432
HP:0012385	Camptodactyly	8822	FGF17	ORPHA:432
HP:0012385	Camptodactyly	3814	KISS1	ORPHA:432
HP:0012385	Camptodactyly	23111	SPART	OMIM:275900
HP:0012385	Camptodactyly	8243	SMC1A	OMIM:301044
HP:0012385	Camptodactyly	1281	COL3A1	OMIM:618343
HP:0012385	Camptodactyly	9158	FIBP	ORPHA:500095
HP:0012385	Camptodactyly	84162	BLTP1	OMIM:617822
HP:0012385	Camptodactyly	2263	FGFR2	OMIM:207410
HP:0012385	Camptodactyly	998	CDC42	OMIM:616737
HP:0012385	Camptodactyly	998	CDC42	ORPHA:487796
HP:0012385	Camptodactyly	54808	DYM	OMIM:223800
HP:0012385	Camptodactyly	28982	FLVCR1	ORPHA:88628
HP:0012385	Camptodactyly	28982	FLVCR1	OMIM:609033
HP:0012385	Camptodactyly	56915	EXOSC5	OMIM:619576
HP:0012385	Camptodactyly	55906	ZC4H2	OMIM:314580
HP:0012385	Camptodactyly	92255	LMBRD2	OMIM:619694
HP:0012385	Camptodactyly	23511	NUP188	OMIM:618804
HP:0012385	Camptodactyly	92344	GORAB	OMIM:231070
HP:0012385	Camptodactyly	29940	DSE	OMIM:615539
HP:0012385	Camptodactyly	23389	MED13L	ORPHA:369891
HP:0012385	Camptodactyly	91647	ATPAF2	OMIM:604273
HP:0012385	Camptodactyly	727857	BHLHA9	OMIM:607539
HP:0012385	Camptodactyly	10943	MSL3	OMIM:301032
HP:0012385	Camptodactyly	633	BGN	OMIM:300989
HP:0012385	Camptodactyly	79576	NKAP	OMIM:301039
HP:0012385	Camptodactyly	84896	ATAD1	OMIM:618011
HP:0012385	Camptodactyly	25	ABL1	OMIM:617602
HP:0012385	Camptodactyly	3930	LBR	OMIM:618019
HP:0012385	Camptodactyly	54551	MAGEL2	OMIM:615547
HP:0012385	Camptodactyly	26040	SETBP1	ORPHA:798
HP:0012385	Camptodactyly	6611	SMS	ORPHA:3063
HP:0012385	Camptodactyly	55975	KLHL7	OMIM:617055
HP:0012385	Camptodactyly	1861	TOR1A	OMIM:618947
HP:0012385	Camptodactyly	246329	STAC3	ORPHA:168572
HP:0012385	Camptodactyly	6134	RPL10	ORPHA:435938
HP:0012385	Camptodactyly	51715	RAB23	OMIM:201000
HP:0012385	Camptodactyly	83737	ITCH	OMIM:613385
HP:0012385	Camptodactyly	83737	ITCH	ORPHA:228426
HP:0012385	Camptodactyly	90416	CCDC32	OMIM:619123
HP:0012385	Camptodactyly	2273	FHL1	OMIM:300280
HP:0012385	Camptodactyly	139285	AMER1	OMIM:300373
HP:0012385	Camptodactyly	342035	GLDN	OMIM:617194
HP:0012385	Camptodactyly	10084	PQBP1	OMIM:309500
HP:0012385	Camptodactyly	9487	PIGL	OMIM:280000
HP:0012385	Camptodactyly	3868	KRT16	ORPHA:2199
HP:0012385	Camptodactyly	3857	KRT9	ORPHA:2199
HP:0012385	Camptodactyly	3848	KRT1	ORPHA:2199
HP:0012385	Camptodactyly	6913	TBX15	OMIM:260660
HP:0012385	Camptodactyly	2036	EPB41L1	OMIM:614257
HP:0012385	Camptodactyly	523	ATP6V1A	OMIM:617403
HP:0012385	Camptodactyly	529	ATP6V1E1	OMIM:617402
HP:0012385	Camptodactyly	4233	MET	OMIM:620019
HP:0012385	Camptodactyly	170302	ARX	OMIM:309510
HP:0012385	Camptodactyly	5528	PPP2R5D	ORPHA:457279
HP:0012385	Camptodactyly	2218	FKTN	ORPHA:272
HP:0012385	Camptodactyly	4621	MYH3	ORPHA:2053
HP:0012385	Camptodactyly	4621	MYH3	ORPHA:1146
HP:0012385	Camptodactyly	4621	MYH3	ORPHA:2990
HP:0012385	Camptodactyly	259232	NALCN	ORPHA:2053
HP:0012385	Camptodactyly	259232	NALCN	ORPHA:1146
HP:0012385	Camptodactyly	8294	H4C9	OMIM:619951
HP:0012385	Camptodactyly	3094	HINT1	ORPHA:324442
HP:0012385	Camptodactyly	8838	CCN6	OMIM:208230
HP:0012385	Camptodactyly	1947	EFNB1	ORPHA:1520
HP:0012385	Camptodactyly	7355	SLC35A2	ORPHA:356961
HP:0012385	Camptodactyly	118429	ANTXR2	ORPHA:2176
HP:0012385	Camptodactyly	5077	PAX3	ORPHA:1529
HP:0012385	Camptodactyly	5077	PAX3	ORPHA:896
HP:0012385	Camptodactyly	5077	PAX3	OMIM:148820
HP:0012385	Camptodactyly	2316	FLNA	OMIM:300244
HP:0012385	Camptodactyly	2316	FLNA	ORPHA:90652
HP:0012385	Camptodactyly	2316	FLNA	ORPHA:1826
HP:0012385	Camptodactyly	2316	FLNA	OMIM:305620
HP:0012385	Camptodactyly	9241	NOG	ORPHA:3250
HP:0012385	Camptodactyly	8200	GDF5	ORPHA:3250
HP:0012385	Camptodactyly	54968	TMEM70	ORPHA:1194
HP:0012385	Camptodactyly	613	BCR	ORPHA:261330
HP:0012385	Camptodactyly	1399	CRKL	ORPHA:261330
HP:0012385	Camptodactyly	5594	MAPK1	ORPHA:261330
HP:0012385	Camptodactyly	84466	MEGF10	OMIM:614399
HP:0012385	Camptodactyly	72	ACTG2	ORPHA:2604
HP:0012385	Camptodactyly	10216	PRG4	ORPHA:2848
HP:0012385	Camptodactyly	3508	IGHMBP2	OMIM:604320
HP:0012385	Camptodactyly	6926	TBX3	ORPHA:3138
HP:0012385	Camptodactyly	51360	MBTPS2	ORPHA:2273
HP:0012385	Camptodactyly	10381	TUBB3	OMIM:600638
HP:0012385	Camptodactyly	9469	CHST3	OMIM:143095
HP:0012385	Camptodactyly	3423	IDS	ORPHA:217085
HP:0012385	Camptodactyly	3423	IDS	ORPHA:217093
HP:0012385	Camptodactyly	64359	NXN	ORPHA:1507
HP:0012385	Camptodactyly	4920	ROR2	ORPHA:1507
HP:0012385	Camptodactyly	2697	GJA1	ORPHA:2710
HP:0012385	Camptodactyly	2697	GJA1	ORPHA:93404
HP:0012385	Camptodactyly	64127	NOD2	OMIM:186580
HP:0012385	Camptodactyly	64127	NOD2	ORPHA:90340
HP:0012385	Camptodactyly	6999	TDO2	OMIM:600627
HP:0012385	Camptodactyly	1301	COL11A1	ORPHA:2021
HP:0012385	Camptodactyly	1302	COL11A2	ORPHA:2021
HP:0012385	Camptodactyly	10716	TBR1	ORPHA:1617
HP:0012385	Camptodactyly	3425	IDUA	OMIM:607015
HP:0012385	Camptodactyly	3425	IDUA	ORPHA:93473
HP:0012385	Camptodactyly	4593	MUSK	OMIM:208150
HP:0012385	Camptodactyly	4593	MUSK	ORPHA:994
HP:0012385	Camptodactyly	63895	PIEZO2	OMIM:114300
HP:0012385	Camptodactyly	63895	PIEZO2	ORPHA:376
HP:0012385	Camptodactyly	63895	PIEZO2	ORPHA:2461
HP:0012385	Camptodactyly	56006	SMG9	OMIM:616920
HP:0012385	Camptodactyly	1857	DVL3	ORPHA:3107
HP:0012385	Camptodactyly	7474	WNT5A	ORPHA:3107
HP:0012385	Camptodactyly	1855	DVL1	ORPHA:3107
HP:0012385	Camptodactyly	2535	FZD2	ORPHA:3107
HP:0012385	Camptodactyly	9508	ADAMTS3	ORPHA:2136
HP:0012385	Camptodactyly	147372	CCBE1	ORPHA:2136
HP:0012385	Camptodactyly	79633	FAT4	ORPHA:2136
HP:0012385	Camptodactyly	5189	PEX1	ORPHA:3220
HP:0012385	Camptodactyly	5190	PEX6	ORPHA:3220
HP:0012385	Camptodactyly	5590	PRKCZ	ORPHA:1606
HP:0012385	Camptodactyly	2563	GABRD	ORPHA:1606
HP:0012385	Camptodactyly	23013	SPEN	ORPHA:1606
HP:0012385	Camptodactyly	8510	MMP23B	ORPHA:1606
HP:0012385	Camptodactyly	7798	LUZP1	ORPHA:1606
HP:0012385	Camptodactyly	6497	SKI	ORPHA:1606
HP:0012385	Camptodactyly	6497	SKI	ORPHA:2462
HP:0012385	Camptodactyly	10630	PDPN	ORPHA:1606
HP:0012385	Camptodactyly	3339	HSPG2	ORPHA:1606
HP:0012385	Camptodactyly	10277	UBE4B	ORPHA:1606
HP:0012385	Camptodactyly	8514	KCNAB2	ORPHA:1606
HP:0012385	Camptodactyly	473	RERE	ORPHA:1606
HP:0012385	Camptodactyly	63976	PRDM16	ORPHA:1606
HP:0012385	Camptodactyly	54897	CASZ1	ORPHA:1606
HP:0012385	Camptodactyly	9719	ADAMTSL2	OMIM:231050
HP:0012385	Camptodactyly	4952	OCRL	OMIM:309000
HP:0012385	Camptodactyly	8517	IKBKG	ORPHA:464
HP:0012385	Camptodactyly	10436	EMG1	ORPHA:1270
HP:0012385	Camptodactyly	57492	ARID1B	ORPHA:251056
HP:0012385	Camptodactyly	11128	POLR3A	ORPHA:3455
HP:0012385	Camptodactyly	2239	GPC4	ORPHA:373
HP:0012385	Camptodactyly	2719	GPC3	ORPHA:373
HP:0012385	Camptodactyly	55612	FERMT1	ORPHA:2908
HP:0012385	Camptodactyly	3977	LIFR	ORPHA:3206
HP:0012385	Camptodactyly	23483	TGDS	ORPHA:1388
HP:0012385	Camptodactyly	2260	FGFR1	OMIM:166250
HP:0012385	Camptodactyly	7140	TNNT3	ORPHA:1146
HP:0012385	Camptodactyly	7169	TPM2	ORPHA:1146
HP:0012385	Camptodactyly	7136	TNNI2	ORPHA:1146
HP:0012385	Camptodactyly	7136	TNNI2	OMIM:601680
HP:0012385	Camptodactyly	4604	MYBPC1	ORPHA:1146
HP:0012385	Camptodactyly	6885	MAP3K7	ORPHA:1826
HP:0012385	Camptodactyly	117581	TWIST2	ORPHA:920
HP:0012385	Camptodactyly	64324	NSD1	ORPHA:3447
HP:0012385	Camptodactyly	8726	EED	ORPHA:3447
HP:0012385	Camptodactyly	23512	SUZ12	ORPHA:3447
HP:0012385	Camptodactyly	2146	EZH2	ORPHA:3447
HP:0012385	Camptodactyly	1723	DHODH	ORPHA:246
HP:0012385	Camptodactyly	257	ALX3	ORPHA:391474
HP:0012385	Camptodactyly	3239	HOXD13	OMIM:186300
HP:0012385	Camptodactyly	3239	HOXD13	ORPHA:93406
HP:0012385	Camptodactyly	54903	MKS1	OMIM:249000
HP:0012385	Camptodactyly	91252	SLC39A13	OMIM:612350
HP:0012385	Camptodactyly	22930	RAB3GAP1	OMIM:619420
HP:0012385	Camptodactyly	7046	TGFBR1	ORPHA:60030
HP:0012385	Camptodactyly	10526	IPO8	ORPHA:60030
HP:0012385	Camptodactyly	7048	TGFBR2	ORPHA:60030
HP:0012385	Camptodactyly	3897	L1CAM	ORPHA:2466
HP:0012385	Camptodactyly	2245	FGD1	ORPHA:915
HP:0012385	Camptodactyly	2200	FBN1	ORPHA:2462
HP:0012385	Camptodactyly	2201	FBN2	ORPHA:115
HP:0012385	Camptodactyly	7227	TRPS1	ORPHA:77258
HP:0012385	Camptodactyly	4088	SMAD3	ORPHA:284984
HP:0012385	Camptodactyly	27238	GPKOW	ORPHA:2570
HP:0012385	Camptodactyly	10466	COG5	ORPHA:263487
HP:0012385	Camptodactyly	55315	SLC29A3	OMIM:602782
HP:0012385	Camptodactyly	23102	TBC1D2B	OMIM:619323
HP:0012385	Camptodactyly	2068	ERCC2	OMIM:610756
HP:0012385	Camptodactyly	2068	ERCC2	ORPHA:1466
HP:0012385	Camptodactyly	51114	ZDHHC9	ORPHA:776
HP:0012385	Camptodactyly	65109	UPF3B	ORPHA:776
HP:0012385	Camptodactyly	9968	MED12	ORPHA:776
HP:0012385	Camptodactyly	2067	ERCC1	OMIM:610758
HP:0012385	Camptodactyly	2067	ERCC1	ORPHA:1466
HP:0012385	Camptodactyly	114548	NLRP3	ORPHA:575
HP:0012385	Camptodactyly	2074	ERCC6	ORPHA:1466
HP:0012385	Camptodactyly	2073	ERCC5	ORPHA:1466
HP:0012385	Camptodactyly	134701	RIPPLY2	ORPHA:2311
HP:0012385	Camptodactyly	10683	DLL3	ORPHA:2311
HP:0012385	Camptodactyly	3955	LFNG	ORPHA:2311
HP:0012385	Camptodactyly	84667	HES7	ORPHA:2311
HP:0012385	Camptodactyly	145873	MESP2	ORPHA:2311
HP:0012385	Camptodactyly	81620	CDT1	ORPHA:2554
HP:0012385	Camptodactyly	5000	ORC4	ORPHA:2554
HP:0012385	Camptodactyly	23594	ORC6	ORPHA:2554
HP:0012385	Camptodactyly	8318	CDC45	ORPHA:2554
HP:0012385	Camptodactyly	990	CDC6	ORPHA:2554
HP:0012385	Camptodactyly	4998	ORC1	ORPHA:2554
HP:0012385	Camptodactyly	51053	GMNN	ORPHA:2554
HP:0012385	Camptodactyly	8260	NAA10	ORPHA:568
HP:0012385	Camptodactyly	54880	BCOR	ORPHA:568
HP:0012385	Camptodactyly	64327	LMBR1	ORPHA:93405
HP:0012385	Camptodactyly	6469	SHH	ORPHA:93405
HP:0012385	Camptodactyly	4927	NUP88	ORPHA:994
HP:0012385	Camptodactyly	7846	TUBA1A	ORPHA:994
HP:0012385	Camptodactyly	4654	MYOD1	ORPHA:994
HP:0012385	Camptodactyly	5913	RAPSN	ORPHA:994
HP:0012385	Camptodactyly	6572	SLC18A3	ORPHA:994
HP:0012385	Camptodactyly	285489	DOK7	ORPHA:994
HP:0012385	Camptodactyly	3914	LAMB3	OMIM:226650
HP:0012385	Camptodactyly	9150	CTDP1	ORPHA:48431
HP:0012385	Camptodactyly	8092	ALX1	ORPHA:306542
HP:0012385	Camptodactyly	29895	MYL11	OMIM:619110
HP:0012385	Camptodactyly	64840	PORCN	ORPHA:2092
HP:0012385	Camptodactyly	23443	SLC35A3	OMIM:615553
HP:0012385	Camptodactyly	285590	SH3PXD2B	ORPHA:137834
HP:0012385	Camptodactyly	1836	SLC26A2	ORPHA:628
HP:0012385	Camptodactyly	25914	RTTN	ORPHA:468631
HP:0012385	Camptodactyly	9935	MAFB	ORPHA:2774
HP:0012385	Camptodactyly	28952	CCDC22	OMIM:300963
HP:0012385	Camptodactyly	8450	CUL4B	ORPHA:85293
HP:0012385	Camptodactyly	1303	COL12A1	ORPHA:610
HP:0012385	Camptodactyly	1291	COL6A1	ORPHA:610
HP:0012385	Camptodactyly	1291	COL6A1	OMIM:158810
HP:0012385	Camptodactyly	1292	COL6A2	ORPHA:610
HP:0012385	Camptodactyly	1292	COL6A2	OMIM:158810
HP:0012385	Camptodactyly	1293	COL6A3	ORPHA:610
HP:0012385	Camptodactyly	1293	COL6A3	OMIM:158810
HP:0012385	Camptodactyly	26092	TOR1AIP1	OMIM:617072
HP:0012385	Camptodactyly	8242	KDM5C	ORPHA:85279
HP:0012385	Camptodactyly	59341	TRPV4	ORPHA:2635
HP:0012385	Camptodactyly	2261	FGFR3	ORPHA:85164
HP:0012385	Camptodactyly	4000	LMNA	ORPHA:1662
HP:0012385	Camptodactyly	10269	ZMPSTE24	ORPHA:1662
HP:0012385	Camptodactyly	1146	CHRNG	ORPHA:2990
HP:0012385	Camptodactyly	23522	KAT6B	ORPHA:3047
HP:0012385	Camptodactyly	26123	TCTN3	ORPHA:2753
HP:0012385	Camptodactyly	64131	XYLT1	ORPHA:1425
HP:0012385	Camptodactyly	124583	CANT1	ORPHA:1425
HP:0012385	Camptodactyly	55790	CSGALNACT1	ORPHA:1425
HP:0012385	Camptodactyly	23529	CLCF1	ORPHA:1545
HP:0012385	Camptodactyly	9244	CRLF1	ORPHA:1545
HP:0012385	Camptodactyly	51002	TPRKB	ORPHA:2065
HP:0012385	Camptodactyly	84942	WDR73	ORPHA:2065
HP:0012385	Camptodactyly	55644	OSGEP	ORPHA:2065
HP:0012385	Camptodactyly	57122	NUP107	ORPHA:2065
HP:0012385	Camptodactyly	10785	WDR4	ORPHA:2065
HP:0012385	Camptodactyly	55746	NUP133	ORPHA:2065
HP:0012385	Camptodactyly	112858	TP53RK	ORPHA:2065
HP:0012385	Camptodactyly	8270	LAGE3	ORPHA:2065
HP:0012385	Camptodactyly	5696	PSMB8	OMIM:256040
HP:0012385	Camptodactyly	56916	SMARCAD1	ORPHA:1658
HP:0012386	Absent hallux	9896	FIG4	OMIM:216340
HP:0012386	Absent hallux	2737	GLI3	ORPHA:93322
HP:0012387	Bronchitis	27019	DNAI1	OMIM:244400
HP:0012387	Bronchitis	374407	DNAJB13	OMIM:617091
HP:0012387	Bronchitis	6595	SMARCA2	OMIM:619293
HP:0012387	Bronchitis	4791	NFKB2	ORPHA:293978
HP:0012387	Bronchitis	4791	NFKB2	ORPHA:1572
HP:0012387	Bronchitis	23495	TNFRSF13B	OMIM:240500
HP:0012387	Bronchitis	23495	TNFRSF13B	ORPHA:1572
HP:0012387	Bronchitis	115650	TNFRSF13C	OMIM:240500
HP:0012387	Bronchitis	115650	TNFRSF13C	ORPHA:1572
HP:0012387	Bronchitis	1380	CR2	OMIM:240500
HP:0012387	Bronchitis	1380	CR2	ORPHA:1572
HP:0012387	Bronchitis	29851	ICOS	OMIM:240500
HP:0012387	Bronchitis	29851	ICOS	ORPHA:1572
HP:0012387	Bronchitis	29851	ICOS	OMIM:607594
HP:0012387	Bronchitis	930	CD19	OMIM:240500
HP:0012387	Bronchitis	930	CD19	ORPHA:1572
HP:0012387	Bronchitis	84061	MAGT1	OMIM:300853
HP:0012387	Bronchitis	4256	MGP	OMIM:245150
HP:0012387	Bronchitis	6103	RPGR	OMIM:300455
HP:0012387	Bronchitis	123872	DNAAF1	OMIM:613193
HP:0012387	Bronchitis	4683	NBN	OMIM:251260
HP:0012387	Bronchitis	2622	GAS8	OMIM:616726
HP:0012387	Bronchitis	23765	IL17RA	OMIM:613953
HP:0012387	Bronchitis	3588	IL10RB	OMIM:612567
HP:0012387	Bronchitis	6890	TAP1	OMIM:604571
HP:0012387	Bronchitis	6891	TAP2	OMIM:604571
HP:0012387	Bronchitis	6892	TAPBP	OMIM:604571
HP:0012387	Bronchitis	3561	IL2RG	OMIM:312863
HP:0012387	Bronchitis	974	CD79B	OMIM:612692
HP:0012387	Bronchitis	472	ATM	OMIM:208900
HP:0012387	Bronchitis	973	CD79A	OMIM:613501
HP:0012387	Bronchitis	4790	NFKB1	ORPHA:1572
HP:0012387	Bronchitis	8742	TNFSF12	ORPHA:1572
HP:0012387	Bronchitis	5580	PRKCD	ORPHA:1572
HP:0012387	Bronchitis	931	MS4A1	ORPHA:1572
HP:0012387	Bronchitis	975	CD81	ORPHA:1572
HP:0012387	Bronchitis	359948	IRF2BP2	ORPHA:1572
HP:0012387	Bronchitis	6901	TAFAZZIN	OMIM:302060
HP:0012387	Bronchitis	79158	GNPTAB	OMIM:252500
HP:0012387	Bronchitis	1789	DNMT3B	OMIM:242860
HP:0012387	Bronchitis	7840	ALMS1	ORPHA:64
HP:0012387	Bronchitis	6340	SCNN1G	OMIM:613071
HP:0012387	Bronchitis	5265	SERPINA1	OMIM:613490
HP:0012387	Bronchitis	55130	ODAD2	OMIM:615451
HP:0012387	Bronchitis	2990	GUSB	OMIM:253220
HP:0012387	Bronchitis	9841	ZBTB24	OMIM:614069
HP:0012387	Bronchitis	1080	CFTR	OMIM:211400
HP:0012387	Bronchitis	6338	SCNN1B	OMIM:211400
HP:0012387	Bronchitis	5880	RAC2	OMIM:618986
HP:0012387	Bronchitis	26146	TRAF3IP1	OMIM:616629
HP:0012387	Bronchitis	345895	RSPH4A	OMIM:612649
HP:0012387	Bronchitis	54768	HYDIN	OMIM:608647
HP:0012387	Bronchitis	161582	DNAAF4	OMIM:615482
HP:0012387	Bronchitis	146206	CARMIL2	OMIM:618131
HP:0012387	Bronchitis	6337	SCNN1A	OMIM:613021
HP:0012387	Bronchitis	56683	CFAP298	OMIM:615500
HP:0012387	Bronchitis	54919	DNAAF5	OMIM:614874
HP:0012387	Bronchitis	51364	ZMYND10	OMIM:615444
HP:0012387	Bronchitis	115948	ODAD3	OMIM:616037
HP:0012387	Bronchitis	85478	CCDC65	OMIM:615504
HP:0012387	Bronchitis	6674	SPAG1	OMIM:615505
HP:0012387	Bronchitis	23639	DNAAF11	OMIM:614935
HP:0012387	Bronchitis	55036	CCDC40	OMIM:613808
HP:0012387	Bronchitis	339829	CCDC39	OMIM:613807
HP:0012387	Bronchitis	6850	SYK	OMIM:619381
HP:0012387	Bronchitis	641	BLM	ORPHA:125
HP:0012387	Bronchitis	775	CACNA1C	OMIM:601005
HP:0012387	Bronchitis	10568	SLC34A2	ORPHA:60025
HP:0012387	Bronchitis	165918	RNF168	ORPHA:420741
HP:0012387	Bronchitis	3119	HLA-DQB1	ORPHA:930
HP:0012387	Bronchitis	9244	CRLF1	ORPHA:930
HP:0012387	Bronchitis	3117	HLA-DQA1	ORPHA:930
HP:0012387	Bronchitis	4842	NOS1	ORPHA:930
HP:0012387	Bronchitis	3514	IGKC	ORPHA:183675
HP:0012387	Bronchitis	3501	IGHG2	ORPHA:183675
HP:0012387	Bronchitis	23149	FCHO1	OMIM:619164
HP:0012387	Bronchitis	1956	EGFR	OMIM:616069
HP:0012389	Appendicular hypotonia	79158	GNPTAB	ORPHA:576
HP:0012389	Appendicular hypotonia	8504	PEX3	OMIM:617370
HP:0012389	Appendicular hypotonia	25929	GEMIN5	OMIM:619333
HP:0012389	Appendicular hypotonia	2629	GBA1	ORPHA:2072
HP:0012389	Appendicular hypotonia	5393	EXOSC9	OMIM:618065
HP:0012389	Appendicular hypotonia	10463	SLC30A9	OMIM:617595
HP:0012389	Appendicular hypotonia	55280	CWF19L1	OMIM:616127
HP:0012389	Appendicular hypotonia	96459	FNIP1	OMIM:619705
HP:0012389	Appendicular hypotonia	375387	NRROS	OMIM:618875
HP:0012389	Appendicular hypotonia	775	CACNA1C	OMIM:620029
HP:0012389	Appendicular hypotonia	203190	LGI3	OMIM:620007
HP:0012389	Appendicular hypotonia	23219	FBXO28	OMIM:619777
HP:0012389	Appendicular hypotonia	5631	PRPS1	ORPHA:1187
HP:0012389	Appendicular hypotonia	285175	UNC80	OMIM:616801
HP:0012389	Appendicular hypotonia	9570	GOSR2	OMIM:620166
HP:0012389	Appendicular hypotonia	63908	NAPB	OMIM:620033
HP:0012382	Left-to-right shunt	7092	TLL1	ORPHA:99103
HP:0012382	Left-to-right shunt	57057	TBX20	ORPHA:99103
HP:0012382	Left-to-right shunt	4624	MYH6	ORPHA:99103
HP:0012382	Left-to-right shunt	1482	NKX2-5	ORPHA:99103
HP:0012382	Left-to-right shunt	70	ACTC1	ORPHA:99103
HP:0012382	Left-to-right shunt	10370	CITED2	ORPHA:99103
HP:0012382	Left-to-right shunt	10370	CITED2	ORPHA:99105
HP:0012382	Left-to-right shunt	2626	GATA4	ORPHA:99103
HP:0012382	Left-to-right shunt	2627	GATA6	ORPHA:99103
HP:0012382	Left-to-right shunt	79228	THOC6	ORPHA:363444
HP:0012382	Left-to-right shunt	79989	IFT56	OMIM:619534
HP:0012383	Bidirectional shunt	79989	IFT56	OMIM:619534
HP:0012383	Bidirectional shunt	4629	MYH11	OMIM:619351
HP:0012384	Rhinitis	27019	DNAI1	OMIM:244400
HP:0012384	Rhinitis	27019	DNAI1	ORPHA:244
HP:0012384	Rhinitis	374407	DNAJB13	OMIM:617091
HP:0012384	Rhinitis	374407	DNAJB13	ORPHA:244
HP:0012384	Rhinitis	83538	ODAD4	OMIM:617092
HP:0012384	Rhinitis	83538	ODAD4	ORPHA:244
HP:0012384	Rhinitis	1770	DNAH9	OMIM:618300
HP:0012384	Rhinitis	1770	DNAH9	ORPHA:244
HP:0012384	Rhinitis	83861	RSPH3	OMIM:616481
HP:0012384	Rhinitis	83861	RSPH3	ORPHA:244
HP:0012384	Rhinitis	55130	ODAD2	OMIM:615451
HP:0012384	Rhinitis	55130	ODAD2	ORPHA:244
HP:0012384	Rhinitis	25981	DNAH1	OMIM:617577
HP:0012384	Rhinitis	25981	DNAH1	ORPHA:244
HP:0012384	Rhinitis	2622	GAS8	OMIM:616726
HP:0012384	Rhinitis	2622	GAS8	ORPHA:244
HP:0012384	Rhinitis	64446	DNAI2	OMIM:612444
HP:0012384	Rhinitis	64446	DNAI2	ORPHA:244
HP:0012384	Rhinitis	54970	TTC12	OMIM:618801
HP:0012384	Rhinitis	54970	TTC12	ORPHA:244
HP:0012384	Rhinitis	54440	SASH3	OMIM:301082
HP:0012384	Rhinitis	345895	RSPH4A	OMIM:612649
HP:0012384	Rhinitis	345895	RSPH4A	ORPHA:244
HP:0012384	Rhinitis	79087	ALG12	ORPHA:79324
HP:0012384	Rhinitis	10312	TCIRG1	ORPHA:667
HP:0012384	Rhinitis	1186	CLCN7	ORPHA:667
HP:0012384	Rhinitis	29887	SNX10	ORPHA:667
HP:0012384	Rhinitis	8600	TNFSF11	ORPHA:667
HP:0012384	Rhinitis	115948	ODAD3	ORPHA:244
HP:0012384	Rhinitis	54768	HYDIN	ORPHA:244
HP:0012384	Rhinitis	54768	HYDIN	OMIM:608647
HP:0012384	Rhinitis	352909	DNAAF3	ORPHA:244
HP:0012384	Rhinitis	27148	STK36	ORPHA:244
HP:0012384	Rhinitis	51314	NME8	ORPHA:244
HP:0012384	Rhinitis	92749	DRC1	ORPHA:244
HP:0012384	Rhinitis	152110	NEK10	ORPHA:244
HP:0012384	Rhinitis	8481	OFD1	ORPHA:244
HP:0012384	Rhinitis	2302	FOXJ1	ORPHA:244
HP:0012384	Rhinitis	2302	FOXJ1	OMIM:618699
HP:0012384	Rhinitis	221421	RSPH9	ORPHA:244
HP:0012384	Rhinitis	221421	RSPH9	OMIM:612650
HP:0012384	Rhinitis	85478	CCDC65	ORPHA:244
HP:0012384	Rhinitis	55036	CCDC40	ORPHA:244
HP:0012384	Rhinitis	51364	ZMYND10	ORPHA:244
HP:0012384	Rhinitis	6674	SPAG1	ORPHA:244
HP:0012384	Rhinitis	83544	DNAL1	ORPHA:244
HP:0012384	Rhinitis	83544	DNAL1	OMIM:614017
HP:0012384	Rhinitis	89765	RSPH1	ORPHA:244
HP:0012384	Rhinitis	89765	RSPH1	OMIM:615481
HP:0012384	Rhinitis	200373	CFAP221	ORPHA:244
HP:0012384	Rhinitis	55172	DNAAF2	ORPHA:244
HP:0012384	Rhinitis	161582	DNAAF4	ORPHA:244
HP:0012384	Rhinitis	161582	DNAAF4	OMIM:615482
HP:0012384	Rhinitis	23639	DNAAF11	ORPHA:244
HP:0012384	Rhinitis	54919	DNAAF5	ORPHA:244
HP:0012384	Rhinitis	6103	RPGR	ORPHA:244
HP:0012384	Rhinitis	388389	CCDC103	ORPHA:244
HP:0012384	Rhinitis	388389	CCDC103	OMIM:614679
HP:0012384	Rhinitis	93233	ODAD1	ORPHA:244
HP:0012384	Rhinitis	1767	DNAH5	ORPHA:244
HP:0012384	Rhinitis	345643	MCIDAS	ORPHA:244
HP:0012384	Rhinitis	345643	MCIDAS	OMIM:618695
HP:0012384	Rhinitis	56683	CFAP298	ORPHA:244
HP:0012384	Rhinitis	79925	SPEF2	ORPHA:244
HP:0012384	Rhinitis	10309	CCNO	ORPHA:244
HP:0012384	Rhinitis	115399	LRRC56	ORPHA:244
HP:0012384	Rhinitis	139212	DNAAF6	ORPHA:244
HP:0012384	Rhinitis	123872	DNAAF1	ORPHA:244
HP:0012384	Rhinitis	85016	CFAP300	ORPHA:244
HP:0012384	Rhinitis	339829	CCDC39	ORPHA:244
HP:0012384	Rhinitis	8701	DNAH11	ORPHA:244
HP:0012384	Rhinitis	8701	DNAH11	OMIM:611884
HP:0012384	Rhinitis	246176	GAS2L2	ORPHA:244
HP:0012384	Rhinitis	22861	NLRP1	OMIM:615225
HP:0012384	Rhinitis	11005	SPINK5	OMIM:256500
HP:0012384	Rhinitis	55315	SLC29A3	ORPHA:168569
HP:0012384	Rhinitis	10999	SLC27A4	OMIM:608649
HP:0012384	Rhinitis	1369	CPN1	OMIM:212070
HP:0012384	Rhinitis	23387	SIK3	OMIM:618162
HP:0012384	Rhinitis	7941	PLA2G7	OMIM:147050
HP:0012384	Rhinitis	50615	IL21R	OMIM:147050
HP:0012384	Rhinitis	3566	IL4R	OMIM:147050
HP:0012384	Rhinitis	2206	MS4A2	OMIM:147050
HP:0012384	Rhinitis	146206	CARMIL2	OMIM:618131
HP:0012384	Rhinitis	1041	CDSN	ORPHA:90368
HP:0012384	Rhinitis	121391	KRT74	ORPHA:90368
HP:0012384	Rhinitis	5238	PGM3	ORPHA:443811
HP:0012384	Rhinitis	5238	PGM3	OMIM:615816
HP:0012384	Rhinitis	5336	PLCG2	OMIM:614468
HP:0012384	Rhinitis	84701	COX4I2	OMIM:612714
HP:0012384	Rhinitis	3514	IGKC	ORPHA:183675
HP:0012384	Rhinitis	3501	IGHG2	ORPHA:183675
HP:0012384	Rhinitis	5994	RFXAP	ORPHA:572
HP:0012384	Rhinitis	4261	CIITA	ORPHA:572
HP:0012384	Rhinitis	5993	RFX5	ORPHA:572
HP:0012384	Rhinitis	8625	RFXANK	ORPHA:572
HP:0012384	Rhinitis	1896	EDA	OMIM:305100
HP:0012384	Rhinitis	1621	DBH	ORPHA:230
HP:0012384	Rhinitis	128178	EDARADD	OMIM:614941
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93474
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93473
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93476
HP:0012384	Rhinitis	1991	ELANE	ORPHA:486
HP:0012384	Rhinitis	2672	GFI1	ORPHA:486
HP:0012384	Rhinitis	6729	SRP54	ORPHA:486
HP:0012384	Rhinitis	81570	CLPB	ORPHA:486
HP:0012384	Rhinitis	641	BLM	ORPHA:125
HP:0012384	Rhinitis	374879	ZNF699	OMIM:619488
HP:0012384	Rhinitis	5896	RAG1	OMIM:601457
HP:0012384	Rhinitis	5897	RAG2	OMIM:601457
HP:0012380	Reduced carnitine O-palmitoyltransferase level	1376	CPT2	ORPHA:228302
HP:0012380	Reduced carnitine O-palmitoyltransferase level	1376	CPT2	ORPHA:228305
HP:0012380	Reduced carnitine O-palmitoyltransferase level	1376	CPT2	ORPHA:228308
HP:0032792	Tonic seizure	610	HCN2	OMIM:602477
HP:0032792	Tonic seizure	57526	PCDH19	ORPHA:101039
HP:0032792	Tonic seizure	57526	PCDH19	ORPHA:33069
HP:0032792	Tonic seizure	6812	STXBP1	OMIM:612164
HP:0032792	Tonic seizure	51604	PIGT	ORPHA:369837
HP:0032792	Tonic seizure	10815	CPLX1	OMIM:617976
HP:0032792	Tonic seizure	25977	NECAP1	OMIM:615833
HP:0032792	Tonic seizure	4191	MDH2	OMIM:617339
HP:0032792	Tonic seizure	6134	RPL10	ORPHA:459070
HP:0032792	Tonic seizure	6335	SCN9A	ORPHA:33069
HP:0032792	Tonic seizure	2554	GABRA1	ORPHA:33069
HP:0032792	Tonic seizure	6324	SCN1B	ORPHA:33069
HP:0032792	Tonic seizure	6324	SCN1B	ORPHA:1934
HP:0032792	Tonic seizure	785	CACNB4	OMIM:607682
HP:0032792	Tonic seizure	22796	COG2	ORPHA:435934
HP:0032792	Tonic seizure	22796	COG2	OMIM:617395
HP:0032792	Tonic seizure	55610	VPS50	OMIM:619685
HP:0032792	Tonic seizure	56997	COQ8A	OMIM:612016
HP:0032792	Tonic seizure	57582	KCNT1	OMIM:614959
HP:0032792	Tonic seizure	7846	TUBA1A	OMIM:611603
HP:0032792	Tonic seizure	6904	TBCD	ORPHA:496641
HP:0032792	Tonic seizure	6904	TBCD	OMIM:617193
HP:0032792	Tonic seizure	340024	SLC6A19	OMIM:234500
HP:0032792	Tonic seizure	84059	ADGRV1	OMIM:604352
HP:0032792	Tonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0032792	Tonic seizure	8813	DPM1	ORPHA:79322
HP:0032792	Tonic seizure	128989	TANGO2	ORPHA:480864
HP:0032792	Tonic seizure	6792	CDKL5	ORPHA:505652
HP:0032792	Tonic seizure	6792	CDKL5	ORPHA:1934
HP:0032792	Tonic seizure	2562	GABRB3	ORPHA:2382
HP:0032792	Tonic seizure	5602	MAPK10	ORPHA:2382
HP:0032792	Tonic seizure	3735	KARS1	OMIM:619147
HP:0032792	Tonic seizure	1917	EEF1A2	OMIM:616393
HP:0032792	Tonic seizure	2903	GRIN2A	ORPHA:289266
HP:0032792	Tonic seizure	6304	SATB1	OMIM:619229
HP:0032792	Tonic seizure	3736	KCNA1	ORPHA:1934
HP:0032792	Tonic seizure	9091	PIGQ	ORPHA:1934
HP:0032792	Tonic seizure	2902	GRIN1	ORPHA:1934
HP:0032792	Tonic seizure	2902	GRIN1	ORPHA:208447
HP:0032792	Tonic seizure	8573	CASK	ORPHA:1934
HP:0032792	Tonic seizure	2917	GRM7	ORPHA:1934
HP:0032792	Tonic seizure	11284	PNKP	ORPHA:1934
HP:0032792	Tonic seizure	51227	PIGP	ORPHA:1934
HP:0032792	Tonic seizure	4761	NEUROD2	ORPHA:1934
HP:0032792	Tonic seizure	3785	KCNQ2	ORPHA:1949
HP:0032792	Tonic seizure	3785	KCNQ2	ORPHA:306
HP:0032792	Tonic seizure	3786	KCNQ3	ORPHA:1949
HP:0032792	Tonic seizure	3786	KCNQ3	ORPHA:306
HP:0032792	Tonic seizure	2892	GRIA3	OMIM:300699
HP:0032792	Tonic seizure	2775	GNAO1	OMIM:615473
HP:0032792	Tonic seizure	23241	PACS2	OMIM:618067
HP:0032792	Tonic seizure	773	CACNA1A	OMIM:617106
HP:0032792	Tonic seizure	6506	SLC1A2	OMIM:617105
HP:0032792	Tonic seizure	6334	SCN8A	OMIM:614558
HP:0032792	Tonic seizure	6334	SCN8A	ORPHA:306
HP:0032792	Tonic seizure	1183	CLCN4	ORPHA:485350
HP:0032792	Tonic seizure	2019	EN1	OMIM:619218
HP:0032792	Tonic seizure	56270	WDR45B	OMIM:617977
HP:0032792	Tonic seizure	6326	SCN2A	ORPHA:306
HP:0032792	Tonic seizure	112476	PRRT2	ORPHA:306
HP:0032792	Tonic seizure	5290	PIK3CA	ORPHA:99802
HP:0032792	Tonic seizure	2475	MTOR	ORPHA:99802
HP:0032792	Tonic seizure	10000	AKT3	ORPHA:99802
HP:0032792	Tonic seizure	79751	SLC25A22	ORPHA:1935
HP:0032792	Tonic seizure	150094	SIK1	ORPHA:1935
HP:0032792	Tonic seizure	55768	NGLY1	ORPHA:404454
HP:0032792	Tonic seizure	5813	PURA	ORPHA:314655
HP:0032792	Tonic seizure	11212	PLPBP	OMIM:617290
HP:0032792	Tonic seizure	23312	DMXL2	OMIM:618663
HP:0032792	Tonic seizure	340533	NEXMIF	OMIM:300912
HP:0032792	Tonic seizure	1182	CLCN3	OMIM:619512
HP:0032792	Tonic seizure	1182	CLCN3	OMIM:619517
HP:0032792	Tonic seizure	23316	CUX2	OMIM:618141
HP:0032792	Tonic seizure	9853	RUSC2	OMIM:617773
HP:0032792	Tonic seizure	343450	KCNT2	OMIM:617771
HP:0032792	Tonic seizure	3747	KCNC2	OMIM:619913
HP:0032792	Tonic seizure	23334	SZT2	OMIM:615476
HP:0032792	Tonic seizure	23394	ADNP	OMIM:615873
HP:0032792	Tonic seizure	775	CACNA1C	OMIM:620029
HP:0032792	Tonic seizure	8452	CUL3	OMIM:619239
HP:0032792	Tonic seizure	6323	SCN1A	OMIM:619317
HP:0032792	Tonic seizure	55325	UFSP2	OMIM:620028
HP:0032792	Tonic seizure	51343	FZR1	OMIM:620145
HP:0032792	Tonic seizure	8496	PPFIBP1	OMIM:620024
HP:0032792	Tonic seizure	170302	ARX	OMIM:308350
HP:0032792	Tonic seizure	728294	D2HGDH	OMIM:600721
HP:0032792	Tonic seizure	387119	CEP85L	OMIM:618873
HP:0032792	Tonic seizure	79868	ALG13	OMIM:300884
HP:0032792	Tonic seizure	112755	STX1B	OMIM:616172
HP:0032792	Tonic seizure	1062	CENPE	OMIM:616051
HP:0032792	Tonic seizure	8867	SYNJ1	OMIM:617389
HP:0032792	Tonic seizure	2566	GABRG2	OMIM:618396
HP:0032792	Tonic seizure	10991	SLC38A3	OMIM:619881
HP:0032792	Tonic seizure	6487	ST3GAL3	OMIM:615006
HP:0032792	Tonic seizure	1106	CHD2	OMIM:615369
HP:0032792	Tonic seizure	478	ATP1A3	OMIM:619606
HP:0032792	Tonic seizure	2782	GNB1	OMIM:616973
HP:0032792	Tonic seizure	10565	ARFGEF1	OMIM:619964
HP:0032792	Tonic seizure	84197	POMK	OMIM:615249
HP:0032792	Tonic seizure	23031	MAST3	OMIM:620115
HP:0032792	Tonic seizure	2558	GABRA5	OMIM:618559
HP:0032792	Tonic seizure	5660	PSAP	OMIM:611722
HP:0032792	Tonic seizure	9568	GABBR2	OMIM:617904
HP:0032792	Tonic seizure	2891	GRIA2	OMIM:618917
HP:0032792	Tonic seizure	63908	NAPB	OMIM:620033
HP:0032792	Tonic seizure	2556	GABRA3	OMIM:301091
HP:0032792	Tonic seizure	10430	TMEM147	OMIM:620075
HP:0032792	Tonic seizure	3192	HNRNPU	OMIM:617391
HP:0032792	Tonic seizure	8242	KDM5C	OMIM:300534
HP:0032792	Tonic seizure	10588	MTHFS	OMIM:618367
HP:0032792	Tonic seizure	112939	NACC1	OMIM:617393
HP:0032792	Tonic seizure	284098	PIGW	OMIM:616025
HP:0032792	Tonic seizure	535	ATP6V0A1	OMIM:619970
HP:0032792	Tonic seizure	5530	PPP3CA	OMIM:617711
HP:0032792	Tonic seizure	1759	DNM1	OMIM:616346
HP:0032792	Tonic seizure	23229	ARHGEF9	OMIM:300607
HP:0032792	Tonic seizure	55275	VPS53	OMIM:615851
HP:0032792	Tonic seizure	23219	FBXO28	OMIM:619777
HP:0032792	Tonic seizure	80746	TSEN2	OMIM:612389
HP:0032792	Tonic seizure	79718	TBL1XR1	OMIM:616944
HP:0032792	Tonic seizure	51294	PCDH12	OMIM:251280
HP:0032792	Tonic seizure	85440	DOCK7	OMIM:615859
HP:0032792	Tonic seizure	8604	SLC25A12	OMIM:612949
HP:0032792	Tonic seizure	2898	GRIK2	OMIM:619580
HP:0032792	Tonic seizure	4204	MECP2	OMIM:300260
HP:0032792	Tonic seizure	80856	LNPK	OMIM:618090
HP:0032792	Tonic seizure	23258	DENND5A	OMIM:617281
HP:0032792	Tonic seizure	774	CACNA1B	OMIM:618497
HP:0032792	Tonic seizure	283987	HID1	OMIM:619983
HP:0032792	Tonic seizure	4905	NSF	OMIM:619340
HP:0032792	Tonic seizure	25930	PTPN23	OMIM:618890
HP:0032792	Tonic seizure	58472	SQOR	OMIM:619221
HP:0032792	Tonic seizure	221692	PHACTR1	OMIM:618298
HP:0032792	Tonic seizure	523	ATP6V1A	OMIM:618012
HP:0032792	Tonic seizure	2257	FGF12	OMIM:617166
HP:0032792	Tonic seizure	56479	KCNQ5	OMIM:617601
HP:0032792	Tonic seizure	23236	PLCB1	OMIM:613722
HP:0032792	Tonic seizure	81603	TRIM8	OMIM:619428
HP:0032792	Tonic seizure	10695	CNPY3	OMIM:617929
HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009333	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009334	Abnormality of the epiphysis of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0002170	Intracranial hemorrhage	1471	CST3	OMIM:105150
HP:0002170	Intracranial hemorrhage	1471	CST3	ORPHA:100008
HP:0002170	Intracranial hemorrhage	3717	JAK2	OMIM:133100
HP:0002170	Intracranial hemorrhage	3717	JAK2	OMIM:263300
HP:0002170	Intracranial hemorrhage	10019	SH2B3	OMIM:133100
HP:0002170	Intracranial hemorrhage	2057	EPOR	OMIM:133100
HP:0002170	Intracranial hemorrhage	7428	VHL	OMIM:263400
HP:0002170	Intracranial hemorrhage	7428	VHL	OMIM:171300
HP:0002170	Intracranial hemorrhage	7428	VHL	ORPHA:29072
HP:0002170	Intracranial hemorrhage	7428	VHL	ORPHA:276621
HP:0002170	Intracranial hemorrhage	2132	EXT2	OMIM:616682
HP:0002170	Intracranial hemorrhage	2677	GGCX	OMIM:277450
HP:0002170	Intracranial hemorrhage	55654	TMEM127	OMIM:171300
HP:0002170	Intracranial hemorrhage	55654	TMEM127	ORPHA:29072
HP:0002170	Intracranial hemorrhage	5979	RET	OMIM:171300
HP:0002170	Intracranial hemorrhage	5979	RET	ORPHA:29072
HP:0002170	Intracranial hemorrhage	5979	RET	ORPHA:276621
HP:0002170	Intracranial hemorrhage	6390	SDHB	OMIM:171300
HP:0002170	Intracranial hemorrhage	6390	SDHB	ORPHA:29072
HP:0002170	Intracranial hemorrhage	6390	SDHB	ORPHA:276621
HP:0002170	Intracranial hemorrhage	6392	SDHD	OMIM:171300
HP:0002170	Intracranial hemorrhage	6392	SDHD	ORPHA:29072
HP:0002170	Intracranial hemorrhage	6392	SDHD	ORPHA:276621
HP:0002170	Intracranial hemorrhage	4149	MAX	OMIM:171300
HP:0002170	Intracranial hemorrhage	4149	MAX	ORPHA:29072
HP:0002170	Intracranial hemorrhage	1743	DLST	ORPHA:29072
HP:0002170	Intracranial hemorrhage	4191	MDH2	ORPHA:29072
HP:0002170	Intracranial hemorrhage	6389	SDHA	ORPHA:29072
HP:0002170	Intracranial hemorrhage	23095	KIF1B	ORPHA:29072
HP:0002170	Intracranial hemorrhage	2271	FH	ORPHA:29072
HP:0002170	Intracranial hemorrhage	8402	SLC25A11	ORPHA:29072
HP:0002170	Intracranial hemorrhage	54949	SDHAF2	ORPHA:29072
HP:0002170	Intracranial hemorrhage	4763	NF1	ORPHA:29072
HP:0002170	Intracranial hemorrhage	6391	SDHC	ORPHA:29072
HP:0002170	Intracranial hemorrhage	8314	BAP1	ORPHA:2495
HP:0002170	Intracranial hemorrhage	4771	NF2	ORPHA:2495
HP:0002170	Intracranial hemorrhage	6598	SMARCB1	ORPHA:2495
HP:0002170	Intracranial hemorrhage	5155	PDGFB	ORPHA:2495
HP:0002170	Intracranial hemorrhage	84231	TRAF7	ORPHA:2495
HP:0002170	Intracranial hemorrhage	6608	SMO	ORPHA:2495
HP:0002170	Intracranial hemorrhage	207	AKT1	ORPHA:2495
HP:0002170	Intracranial hemorrhage	5290	PIK3CA	ORPHA:2495
HP:0002170	Intracranial hemorrhage	7015	TERT	ORPHA:2495
HP:0002170	Intracranial hemorrhage	51684	SUFU	ORPHA:2495
HP:0002170	Intracranial hemorrhage	6605	SMARCE1	ORPHA:2495
HP:0002170	Intracranial hemorrhage	8517	IKBKG	OMIM:301081
HP:0002170	Intracranial hemorrhage	1282	COL4A1	OMIM:175780
HP:0002170	Intracranial hemorrhage	2335	FN1	ORPHA:84090
HP:0002170	Intracranial hemorrhage	11235	PDCD10	OMIM:603285
HP:0002170	Intracranial hemorrhage	11235	PDCD10	ORPHA:221061
HP:0002170	Intracranial hemorrhage	83605	CCM2	OMIM:603284
HP:0002170	Intracranial hemorrhage	83605	CCM2	ORPHA:221061
HP:0002170	Intracranial hemorrhage	889	KRIT1	ORPHA:221061
HP:0002170	Intracranial hemorrhage	368	ABCC6	OMIM:177850
HP:0002170	Intracranial hemorrhage	2316	FLNA	OMIM:300049
HP:0002170	Intracranial hemorrhage	3075	CFH	ORPHA:244242
HP:0002170	Intracranial hemorrhage	3426	CFI	ORPHA:244242
HP:0002170	Intracranial hemorrhage	4179	CD46	ORPHA:244242
HP:0002170	Intracranial hemorrhage	101101692	HELLPAR	ORPHA:244242
HP:0002170	Intracranial hemorrhage	5627	PROS1	OMIM:614514
HP:0002170	Intracranial hemorrhage	2165	F13B	ORPHA:331
HP:0002170	Intracranial hemorrhage	2162	F13A1	ORPHA:331
HP:0002170	Intracranial hemorrhage	4854	NOTCH3	ORPHA:136
HP:0002170	Intracranial hemorrhage	51816	ADA2	OMIM:182410
HP:0002170	Intracranial hemorrhage	442721	LMOD2	OMIM:619897
HP:0002170	Intracranial hemorrhage	11274	USP18	OMIM:617397
HP:0002170	Intracranial hemorrhage	727676	SNORD118	ORPHA:542310
HP:0002170	Intracranial hemorrhage	6773	STAT2	OMIM:618886
HP:0002170	Intracranial hemorrhage	79184	BRCC3	ORPHA:280679
HP:0002170	Intracranial hemorrhage	1788	DNMT3A	ORPHA:276621
HP:0002170	Intracranial hemorrhage	2034	EPAS1	ORPHA:276621
HP:0002170	Intracranial hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0002170	Intracranial hemorrhage	94	ACVRL1	OMIM:600376
HP:0002170	Intracranial hemorrhage	94	ACVRL1	ORPHA:774
HP:0002170	Intracranial hemorrhage	2658	GDF2	ORPHA:774
HP:0002170	Intracranial hemorrhage	4089	SMAD4	ORPHA:774
HP:0002170	Intracranial hemorrhage	4089	SMAD4	ORPHA:91387
HP:0002170	Intracranial hemorrhage	2022	ENG	ORPHA:774
HP:0002170	Intracranial hemorrhage	2022	ENG	OMIM:187300
HP:0002170	Intracranial hemorrhage	2022	ENG	ORPHA:231160
HP:0002170	Intracranial hemorrhage	2548	GAA	OMIM:232300
HP:0002170	Intracranial hemorrhage	4088	SMAD3	OMIM:613795
HP:0002170	Intracranial hemorrhage	4088	SMAD3	ORPHA:91387
HP:0002170	Intracranial hemorrhage	5921	RASA1	ORPHA:90307
HP:0002170	Intracranial hemorrhage	2159	F10	ORPHA:328
HP:0002170	Intracranial hemorrhage	351	APP	OMIM:605714
HP:0002170	Intracranial hemorrhage	81704	DOCK8	OMIM:243700
HP:0002170	Intracranial hemorrhage	6786	STIM1	OMIM:185070
HP:0002170	Intracranial hemorrhage	55901	THSD1	OMIM:618734
HP:0002170	Intracranial hemorrhage	55901	THSD1	ORPHA:231160
HP:0002170	Intracranial hemorrhage	4629	MYH11	ORPHA:91387
HP:0002170	Intracranial hemorrhage	7046	TGFBR1	ORPHA:91387
HP:0002170	Intracranial hemorrhage	7048	TGFBR2	ORPHA:91387
HP:0002170	Intracranial hemorrhage	4015	LOX	ORPHA:91387
HP:0002170	Intracranial hemorrhage	4087	SMAD2	ORPHA:91387
HP:0002170	Intracranial hemorrhage	7043	TGFB3	ORPHA:91387
HP:0002170	Intracranial hemorrhage	7042	TGFB2	ORPHA:91387
HP:0002170	Intracranial hemorrhage	2200	FBN1	ORPHA:91387
HP:0002170	Intracranial hemorrhage	59	ACTA2	ORPHA:91387
HP:0002170	Intracranial hemorrhage	5592	PRKG1	ORPHA:91387
HP:0002170	Intracranial hemorrhage	2301	FOXE3	ORPHA:91387
HP:0002170	Intracranial hemorrhage	4144	MAT2A	ORPHA:91387
HP:0002170	Intracranial hemorrhage	23493	HEY2	ORPHA:91387
HP:0002170	Intracranial hemorrhage	8076	MFAP5	ORPHA:91387
HP:0002170	Intracranial hemorrhage	4638	MYLK	ORPHA:91387
HP:0002170	Intracranial hemorrhage	2006	ELN	ORPHA:91387
HP:0002170	Intracranial hemorrhage	2811	GP1BA	ORPHA:853
HP:0002170	Intracranial hemorrhage	2812	GP1BB	ORPHA:853
HP:0002170	Intracranial hemorrhage	3673	ITGA2	ORPHA:853
HP:0002170	Intracranial hemorrhage	135228	CD109	ORPHA:853
HP:0002170	Intracranial hemorrhage	3690	ITGB3	ORPHA:853
HP:0002170	Intracranial hemorrhage	7049	TGFBR3	ORPHA:231160
HP:0002170	Intracranial hemorrhage	1281	COL3A1	ORPHA:231160
HP:0002170	Intracranial hemorrhage	83854	ANGPTL6	ORPHA:231160
HP:0002170	Intracranial hemorrhage	875	CBS	ORPHA:394
HP:0002170	Intracranial hemorrhage	1798	DPAGT1	ORPHA:86309
HP:0002170	Intracranial hemorrhage	54809	SAMD9	OMIM:617053
HP:0002170	Intracranial hemorrhage	2155	F7	OMIM:227500
HP:0002170	Intracranial hemorrhage	2155	F7	ORPHA:327
HP:0002170	Intracranial hemorrhage	2629	GBA1	ORPHA:85212
HP:0002170	Intracranial hemorrhage	65062	TMEM237	OMIM:614424
HP:0002170	Intracranial hemorrhage	538	ATP7A	OMIM:309400
HP:0002170	Intracranial hemorrhage	538	ATP7A	ORPHA:565
HP:0002170	Intracranial hemorrhage	7454	WAS	ORPHA:906
HP:0002170	Intracranial hemorrhage	7456	WIPF1	ORPHA:906
HP:0002170	Intracranial hemorrhage	5728	PTEN	ORPHA:109
HP:0002170	Intracranial hemorrhage	2776	GNAQ	ORPHA:624
HP:0002170	Intracranial hemorrhage	2624	GATA2	ORPHA:3226
HP:0002170	Intracranial hemorrhage	5345	SERPINF2	ORPHA:79
HP:0002170	Intracranial hemorrhage	4000	LMNA	ORPHA:740
HP:0002170	Intracranial hemorrhage	4000	LMNA	ORPHA:363618
HP:0002170	Intracranial hemorrhage	10269	ZMPSTE24	ORPHA:740
HP:0002170	Intracranial hemorrhage	249	ALPL	OMIM:241500
HP:0002170	Intracranial hemorrhage	3998	LMAN1	ORPHA:35909
HP:0002170	Intracranial hemorrhage	90411	MCFD2	ORPHA:35909
HP:0002170	Intracranial hemorrhage	1584	CYP11B1	ORPHA:90795
HP:0002170	Intracranial hemorrhage	1584	CYP11B1	ORPHA:403
HP:0002170	Intracranial hemorrhage	5373	PMM2	ORPHA:79318
HP:0002170	Intracranial hemorrhage	1284	COL4A2	OMIM:614483
HP:0002170	Intracranial hemorrhage	340665	CYP26C1	ORPHA:398189
HP:0002170	Intracranial hemorrhage	2147	F2	ORPHA:325
HP:0002170	Intracranial hemorrhage	1181	CLCN2	ORPHA:404
HP:0002170	Intracranial hemorrhage	2153	F5	ORPHA:326
HP:0002170	Intracranial hemorrhage	1585	CYP11B2	ORPHA:403
HP:0002170	Intracranial hemorrhage	776	CACNA1D	ORPHA:369929
HP:0002170	Intracranial hemorrhage	25942	SIN3A	OMIM:613406
HP:0002170	Intracranial hemorrhage	3762	KCNJ5	ORPHA:251274
HP:0002170	Intracranial hemorrhage	1376	CPT2	OMIM:608836
HP:0002170	Intracranial hemorrhage	54820	NDE1	ORPHA:2177
HP:0002170	Intracranial hemorrhage	3712	IVD	OMIM:243500
HP:0002170	Intracranial hemorrhage	28976	ACAD9	ORPHA:99901
HP:0002170	Intracranial hemorrhage	4594	MMUT	OMIM:251000
HP:0002170	Intracranial hemorrhage	5095	PCCA	OMIM:606054
HP:0002170	Intracranial hemorrhage	5096	PCCB	OMIM:606054
HP:0002170	Intracranial hemorrhage	4774	NFIA	ORPHA:401986
HP:0002170	Intracranial hemorrhage	55788	LMBRD1	ORPHA:79284
HP:0002170	Intracranial hemorrhage	284058	KANSL1	ORPHA:363965
HP:0002170	Intracranial hemorrhage	284058	KANSL1	ORPHA:363958
HP:0002170	Intracranial hemorrhage	6678	SPARC	OMIM:616507
HP:0002170	Intracranial hemorrhage	165918	RNF168	ORPHA:420741
HP:0002170	Intracranial hemorrhage	100131801	PET100	OMIM:619055
HP:0002170	Intracranial hemorrhage	92935	MARS2	OMIM:616430
HP:0002170	Intracranial hemorrhage	1725	DHPS	OMIM:618480
HP:0002170	Intracranial hemorrhage	23299	BICD2	OMIM:618291
HP:0002170	Intracranial hemorrhage	2639	GCDH	ORPHA:25
HP:0002170	Intracranial hemorrhage	3674	ITGA2B	OMIM:273800
HP:0002170	Intracranial hemorrhage	1785	DNM2	OMIM:615368
HP:0002170	Intracranial hemorrhage	1161	ERCC8	ORPHA:90324
HP:0002170	Intracranial hemorrhage	2074	ERCC6	ORPHA:90324
HP:0002170	Intracranial hemorrhage	25974	MMACHC	ORPHA:79282
HP:0002170	Intracranial hemorrhage	3703	STT3A	OMIM:619714
HP:0002170	Intracranial hemorrhage	8241	RBM10	OMIM:311900
HP:0002170	Intracranial hemorrhage	2157	F8	ORPHA:169805
HP:0002170	Intracranial hemorrhage	2157	F8	ORPHA:169802
HP:0002170	Intracranial hemorrhage	5054	SERPINE1	ORPHA:465
HP:0002170	Intracranial hemorrhage	2243	FGA	OMIM:202400
HP:0002170	Intracranial hemorrhage	2244	FGB	OMIM:202400
HP:0002170	Intracranial hemorrhage	2266	FGG	OMIM:202400
HP:0002170	Intracranial hemorrhage	10526	IPO8	OMIM:619472
HP:0002171	Gliosis	2074	ERCC6	OMIM:214150
HP:0002171	Gliosis	5274	SERPINI1	OMIM:604218
HP:0002171	Gliosis	10128	LRPPRC	OMIM:220111
HP:0002171	Gliosis	7528	YY1	ORPHA:506358
HP:0002171	Gliosis	4287	ATXN3	OMIM:109150
HP:0002171	Gliosis	4137	MAPT	OMIM:601104
HP:0002171	Gliosis	4137	MAPT	OMIM:172700
HP:0002171	Gliosis	4728	NDUFS8	OMIM:618222
HP:0002171	Gliosis	55768	NGLY1	OMIM:615273
HP:0002171	Gliosis	55768	NGLY1	ORPHA:404454
HP:0002171	Gliosis	57187	THOC2	OMIM:300957
HP:0002171	Gliosis	57187	THOC2	ORPHA:457240
HP:0002171	Gliosis	1859	DYRK1A	ORPHA:268261
HP:0002171	Gliosis	5663	PSEN1	OMIM:172700
HP:0002171	Gliosis	1593	CYP27A1	ORPHA:909
HP:0002171	Gliosis	4337	MOCS1	OMIM:252150
HP:0002171	Gliosis	23394	ADNP	OMIM:615873
HP:0002171	Gliosis	1355	COX15	OMIM:615119
HP:0002171	Gliosis	5428	POLG	OMIM:203700
HP:0002171	Gliosis	4001	LMNB1	OMIM:169500
HP:0002171	Gliosis	2521	FUS	ORPHA:275872
HP:0002171	Gliosis	8878	SQSTM1	ORPHA:275872
HP:0002171	Gliosis	7415	VCP	ORPHA:275872
HP:0002171	Gliosis	23435	TARDBP	ORPHA:275872
HP:0002171	Gliosis	29110	TBK1	ORPHA:275872
HP:0002171	Gliosis	400916	CHCHD10	ORPHA:275872
HP:0002171	Gliosis	203228	C9orf72	OMIM:105550
HP:0002171	Gliosis	2896	GRN	OMIM:607485
HP:0002171	Gliosis	79813	EHMT1	ORPHA:261652
HP:0002171	Gliosis	58508	KMT2C	ORPHA:261652
HP:0002171	Gliosis	283989	TSEN54	OMIM:225753
HP:0002171	Gliosis	283989	TSEN54	OMIM:277470
HP:0002171	Gliosis	1841	DTYMK	OMIM:619847
HP:0002171	Gliosis	10342	TFG	OMIM:604484
HP:0002171	Gliosis	57582	KCNT1	OMIM:614959
HP:0002171	Gliosis	5290	PIK3CA	ORPHA:99802
HP:0002171	Gliosis	2475	MTOR	ORPHA:99802
HP:0002171	Gliosis	10000	AKT3	ORPHA:99802
HP:0002171	Gliosis	3064	HTT	OMIM:143100
HP:0002171	Gliosis	617	BCS1L	OMIM:124000
HP:0002171	Gliosis	9179	AP4M1	OMIM:612936
HP:0002171	Gliosis	79944	L2HGDH	OMIM:236792
HP:0002171	Gliosis	6904	TBCD	OMIM:617193
HP:0002171	Gliosis	1436	CSF1R	OMIM:221820
HP:0002171	Gliosis	55739	NAXD	OMIM:618321
HP:0002171	Gliosis	170302	ARX	OMIM:300215
HP:0002171	Gliosis	63925	ZNF335	OMIM:615095
HP:0002171	Gliosis	29978	UBQLN2	OMIM:300857
HP:0002171	Gliosis	4125	MAN2B1	OMIM:248500
HP:0002171	Gliosis	51780	KDM3B	OMIM:618846
HP:0002171	Gliosis	551	AVP	OMIM:125700
HP:0002171	Gliosis	54834	GDAP2	OMIM:618369
HP:0002171	Gliosis	2629	GBA1	ORPHA:411602
HP:0002171	Gliosis	23317	DNAJC13	ORPHA:411602
HP:0002171	Gliosis	1981	EIF4G1	ORPHA:411602
HP:0002171	Gliosis	55737	VPS35	ORPHA:411602
HP:0002171	Gliosis	120892	LRRK2	ORPHA:411602
HP:0002171	Gliosis	26058	GIGYF2	ORPHA:411602
HP:0002171	Gliosis	6622	SNCA	ORPHA:411602
HP:0002171	Gliosis	6622	SNCA	OMIM:168601
HP:0002171	Gliosis	3295	HSD17B4	OMIM:261515
HP:0002171	Gliosis	2744	GLS	OMIM:618328
HP:0002171	Gliosis	23203	PMPCA	OMIM:213200
HP:0002171	Gliosis	5076	PAX2	OMIM:120330
HP:0002171	Gliosis	5903	RANBP2	OMIM:608033
HP:0002171	Gliosis	5903	RANBP2	ORPHA:88619
HP:0002171	Gliosis	1967	EIF2B1	OMIM:603896
HP:0002171	Gliosis	5354	PLP1	ORPHA:280210
HP:0002171	Gliosis	7305	TYROBP	OMIM:221770
HP:0002171	Gliosis	5277	PIGA	OMIM:300868
HP:0002171	Gliosis	5277	PIGA	OMIM:301072
HP:0002171	Gliosis	7098	TLR3	OMIM:613002
HP:0002171	Gliosis	523	ATP6V1A	OMIM:617403
HP:0002171	Gliosis	8398	PLA2G6	OMIM:256600
HP:0002171	Gliosis	221927	BRAT1	OMIM:614498
HP:0002171	Gliosis	4338	MOCS2	OMIM:252160
HP:0002171	Gliosis	79731	NARS2	OMIM:616239
HP:0002171	Gliosis	6908	TBP	OMIM:607136
HP:0002171	Gliosis	2108	ETFA	OMIM:231680
HP:0002171	Gliosis	2109	ETFB	OMIM:231680
HP:0002171	Gliosis	2110	ETFDH	OMIM:231680
HP:0002171	Gliosis	5621	PRNP	OMIM:603218
HP:0002171	Gliosis	9997	SCO2	OMIM:604377
HP:0002171	Gliosis	9997	SCO2	ORPHA:70474
HP:0002171	Gliosis	4508	MT-ATP6	ORPHA:225154
HP:0002171	Gliosis	23636	NUP62	ORPHA:225154
HP:0002171	Gliosis	103	ADAR	ORPHA:225154
HP:0002171	Gliosis	7443	VRK1	OMIM:607596
HP:0002171	Gliosis	9361	LONP1	ORPHA:79243
HP:0002171	Gliosis	5160	PDHA1	ORPHA:79243
HP:0002171	Gliosis	10667	FARS2	OMIM:614946
HP:0002171	Gliosis	25915	NDUFAF3	ORPHA:70474
HP:0002171	Gliosis	4714	NDUFB8	ORPHA:70474
HP:0002171	Gliosis	4720	NDUFS2	ORPHA:70474
HP:0002171	Gliosis	6834	SURF1	ORPHA:70474
HP:0002171	Gliosis	5071	PRKN	OMIM:600116
HP:0002171	Gliosis	2747	GLUD2	OMIM:168600
HP:0002171	Gliosis	126	ADH1C	OMIM:168600
HP:0002171	Gliosis	4929	NR4A2	OMIM:168600
HP:0002171	Gliosis	4576	MT-TT	OMIM:168600
HP:0002171	Gliosis	9627	SNCAIP	OMIM:168600
HP:0002171	Gliosis	6311	ATXN2	OMIM:168600
HP:0002171	Gliosis	6315	ATXN8OS	OMIM:168600
HP:0002171	Gliosis	25793	FBXO7	ORPHA:171695
HP:0002171	Gliosis	91137	SLC25A46	OMIM:616505
HP:0002171	Gliosis	6900	CNTN2	OMIM:615400
HP:0002172	Postural instability	1203	CLN5	ORPHA:228360
HP:0002172	Postural instability	26058	GIGYF2	OMIM:607688
HP:0002172	Postural instability	26058	GIGYF2	ORPHA:411602
HP:0002172	Postural instability	4287	ATXN3	OMIM:109150
HP:0002172	Postural instability	4137	MAPT	OMIM:601104
HP:0002172	Postural instability	4137	MAPT	ORPHA:240085
HP:0002172	Postural instability	4137	MAPT	ORPHA:240071
HP:0002172	Postural instability	4137	MAPT	ORPHA:240112
HP:0002172	Postural instability	4137	MAPT	ORPHA:240103
HP:0002172	Postural instability	4137	MAPT	OMIM:168600
HP:0002172	Postural instability	55532	SLC30A10	ORPHA:309854
HP:0002172	Postural instability	55532	SLC30A10	OMIM:613280
HP:0002172	Postural instability	123606	NIPA1	ORPHA:261183
HP:0002172	Postural instability	7283	TUBG1	ORPHA:261183
HP:0002172	Postural instability	81614	NIPA2	ORPHA:261183
HP:0002172	Postural instability	4311	MME	OMIM:617018
HP:0002172	Postural instability	775	CACNA1C	OMIM:620029
HP:0002172	Postural instability	785	CACNB4	OMIM:613855
HP:0002172	Postural instability	785	CACNB4	OMIM:607682
HP:0002172	Postural instability	785	CACNB4	ORPHA:211067
HP:0002172	Postural instability	11284	PNKP	ORPHA:459033
HP:0002172	Postural instability	27235	COQ2	OMIM:146500
HP:0002172	Postural instability	27235	COQ2	OMIM:607426
HP:0002172	Postural instability	27235	COQ2	ORPHA:98933
HP:0002172	Postural instability	27235	COQ2	ORPHA:227510
HP:0002172	Postural instability	10060	ABCC9	OMIM:619719
HP:0002172	Postural instability	1161	ERCC8	ORPHA:90321
HP:0002172	Postural instability	1161	ERCC8	ORPHA:90322
HP:0002172	Postural instability	2072	ERCC4	ORPHA:90321
HP:0002172	Postural instability	2074	ERCC6	ORPHA:90321
HP:0002172	Postural instability	2074	ERCC6	ORPHA:90322
HP:0002172	Postural instability	478	ATP1A3	OMIM:128235
HP:0002172	Postural instability	478	ATP1A3	OMIM:601338
HP:0002172	Postural instability	478	ATP1A3	ORPHA:71517
HP:0002172	Postural instability	4867	NPHP1	OMIM:609583
HP:0002172	Postural instability	2067	ERCC1	ORPHA:90322
HP:0002172	Postural instability	9227	LRAT	ORPHA:364055
HP:0002172	Postural instability	55812	SPATA7	ORPHA:364055
HP:0002172	Postural instability	6121	RPE65	ORPHA:364055
HP:0002172	Postural instability	167691	LCA5	ORPHA:364055
HP:0002172	Postural instability	1822	ATN1	OMIM:125370
HP:0002172	Postural instability	113179	ADAT3	ORPHA:363528
HP:0002172	Postural instability	6311	ATXN2	OMIM:183090
HP:0002172	Postural instability	6311	ATXN2	OMIM:168600
HP:0002172	Postural instability	5575	PRKAR1B	ORPHA:412066
HP:0002172	Postural instability	3736	KCNA1	ORPHA:37612
HP:0002172	Postural instability	9829	DNAJC6	OMIM:615528
HP:0002172	Postural instability	9829	DNAJC6	ORPHA:2828
HP:0002172	Postural instability	9829	DNAJC6	ORPHA:391411
HP:0002172	Postural instability	23400	ATP13A2	ORPHA:314632
HP:0002172	Postural instability	23400	ATP13A2	OMIM:606693
HP:0002172	Postural instability	5071	PRKN	OMIM:600116
HP:0002172	Postural instability	5071	PRKN	ORPHA:2828
HP:0002172	Postural instability	8867	SYNJ1	OMIM:615530
HP:0002172	Postural instability	8867	SYNJ1	ORPHA:2828
HP:0002172	Postural instability	8867	SYNJ1	ORPHA:391411
HP:0002172	Postural instability	55737	VPS35	OMIM:614203
HP:0002172	Postural instability	55737	VPS35	ORPHA:411602
HP:0002172	Postural instability	2629	GBA1	ORPHA:411602
HP:0002172	Postural instability	2629	GBA1	OMIM:168600
HP:0002172	Postural instability	23317	DNAJC13	ORPHA:411602
HP:0002172	Postural instability	1981	EIF4G1	ORPHA:411602
HP:0002172	Postural instability	120892	LRRK2	ORPHA:411602
HP:0002172	Postural instability	120892	LRRK2	ORPHA:2828
HP:0002172	Postural instability	120892	LRRK2	OMIM:607060
HP:0002172	Postural instability	6622	SNCA	ORPHA:411602
HP:0002172	Postural instability	6622	SNCA	ORPHA:2828
HP:0002172	Postural instability	6622	SNCA	ORPHA:171695
HP:0002172	Postural instability	6622	SNCA	OMIM:168601
HP:0002172	Postural instability	6575	SLC20A2	OMIM:213600
HP:0002172	Postural instability	5155	PDGFB	OMIM:213600
HP:0002172	Postural instability	5159	PDGFRB	OMIM:213600
HP:0002172	Postural instability	116442	RAB39B	OMIM:311510
HP:0002172	Postural instability	773	CACNA1A	ORPHA:569
HP:0002172	Postural instability	773	CACNA1A	ORPHA:98758
HP:0002172	Postural instability	112476	PRRT2	ORPHA:569
HP:0002172	Postural instability	6323	SCN1A	ORPHA:569
HP:0002172	Postural instability	477	ATP1A2	ORPHA:569
HP:0002172	Postural instability	6687	SPG7	OMIM:607259
HP:0002172	Postural instability	7852	CXCR4	ORPHA:51636
HP:0002172	Postural instability	80821	DDHD1	ORPHA:101008
HP:0002172	Postural instability	246243	RNASEH1	OMIM:616479
HP:0002172	Postural instability	5981	RFC1	OMIM:614575
HP:0002172	Postural instability	5376	PMP22	ORPHA:90658
HP:0002172	Postural instability	7345	UCHL1	OMIM:613643
HP:0002172	Postural instability	7345	UCHL1	ORPHA:2828
HP:0002172	Postural instability	8398	PLA2G6	OMIM:612953
HP:0002172	Postural instability	8398	PLA2G6	ORPHA:199351
HP:0002172	Postural instability	54832	VPS13C	ORPHA:2828
HP:0002172	Postural instability	11315	PARK7	ORPHA:2828
HP:0002172	Postural instability	27429	HTRA2	ORPHA:2828
HP:0002172	Postural instability	5420	PODXL	ORPHA:2828
HP:0002172	Postural instability	5420	PODXL	ORPHA:391411
HP:0002172	Postural instability	65018	PINK1	ORPHA:2828
HP:0002172	Postural instability	65018	PINK1	OMIM:605909
HP:0002172	Postural instability	3752	KCND3	ORPHA:98772
HP:0002172	Postural instability	4983	OPHN1	ORPHA:137831
HP:0002172	Postural instability	3748	KCNC3	ORPHA:98768
HP:0002172	Postural instability	6872	TAF1	ORPHA:53351
HP:0002172	Postural instability	724066	ATXN8	ORPHA:98760
HP:0002172	Postural instability	6315	ATXN8OS	ORPHA:98760
HP:0002172	Postural instability	6315	ATXN8OS	OMIM:168600
HP:0002172	Postural instability	7222	TRPC3	OMIM:616410
HP:0002172	Postural instability	7222	TRPC3	ORPHA:458798
HP:0002172	Postural instability	9711	RUBCN	ORPHA:404499
HP:0002172	Postural instability	1436	CSF1R	OMIM:221820
HP:0002172	Postural instability	1282	COL4A1	OMIM:618564
HP:0002172	Postural instability	6389	SDHA	OMIM:619259
HP:0002172	Postural instability	5455	POU3F3	OMIM:618604
HP:0002172	Postural instability	10273	STUB1	ORPHA:412057
HP:0002172	Postural instability	2146	EZH2	OMIM:277590
HP:0002172	Postural instability	84188	FAR1	ORPHA:447753
HP:0002172	Postural instability	5832	ALDH18A1	ORPHA:447753
HP:0002172	Postural instability	1678	TIMM8A	ORPHA:52368
HP:0002172	Postural instability	25793	FBXO7	ORPHA:171695
HP:0002172	Postural instability	25793	FBXO7	OMIM:260300
HP:0002172	Postural instability	51142	CHCHD2	OMIM:616710
HP:0002172	Postural instability	5167	ENPP1	ORPHA:758
HP:0002172	Postural instability	368	ABCC6	ORPHA:758
HP:0002172	Postural instability	2747	GLUD2	OMIM:168600
HP:0002172	Postural instability	126	ADH1C	OMIM:168600
HP:0002172	Postural instability	4929	NR4A2	OMIM:168600
HP:0002172	Postural instability	6908	TBP	OMIM:168600
HP:0002172	Postural instability	4576	MT-TT	OMIM:168600
HP:0002172	Postural instability	9627	SNCAIP	OMIM:168600
HP:0002172	Postural instability	4771	NF2	ORPHA:637
HP:0002172	Postural instability	2617	GARS1	OMIM:601472
HP:0002173	Hypoglycemic seizures	3767	KCNJ11	ORPHA:276580
HP:0002173	Hypoglycemic seizures	2645	GCK	OMIM:602485
HP:0002173	Hypoglycemic seizures	56246	MRAP	ORPHA:361
HP:0002173	Hypoglycemic seizures	6770	STAR	ORPHA:361
HP:0002173	Hypoglycemic seizures	4158	MC2R	ORPHA:361
HP:0002173	Hypoglycemic seizures	23530	NNT	ORPHA:361
HP:0002173	Hypoglycemic seizures	10587	TXNRD2	ORPHA:361
HP:0002173	Hypoglycemic seizures	3643	INSR	OMIM:609968
HP:0002173	Hypoglycemic seizures	9095	TBX19	ORPHA:199296
HP:0002173	Hypoglycemic seizures	5443	POMC	OMIM:609734
HP:0002173	Hypoglycemic seizures	5443	POMC	ORPHA:71526
HP:0002173	Hypoglycemic seizures	6927	HNF1A	ORPHA:324575
HP:0002173	Hypoglycemic seizures	5626	PROP1	OMIM:262600
HP:0002173	Hypoglycemic seizures	23126	POGZ	OMIM:616364
HP:0002173	Hypoglycemic seizures	3033	HADH	OMIM:231530
HP:0002173	Hypoglycemic seizures	3033	HADH	ORPHA:71212
HP:0002173	Hypoglycemic seizures	3033	HADH	OMIM:609975
HP:0002173	Hypoglycemic seizures	5122	PCSK1	ORPHA:71528
HP:0002173	Hypoglycemic seizures	6566	SLC16A1	OMIM:610021
HP:0002173	Hypoglycemic seizures	7351	UCP2	ORPHA:276556
HP:0002173	Hypoglycemic seizures	208	AKT2	ORPHA:293964
HP:0002173	Hypoglycemic seizures	6833	ABCC8	OMIM:256450
HP:0002173	Hypoglycemic seizures	6833	ABCC8	ORPHA:276575
HP:0002173	Hypoglycemic seizures	55186	SLC25A36	OMIM:620211
HP:0002173	Hypoglycemic seizures	2746	GLUD1	OMIM:606762
HP:0002173	Hypoglycemic seizures	128989	TANGO2	ORPHA:480864
HP:0002173	Hypoglycemic seizures	2542	SLC37A4	ORPHA:79259
HP:0002174	Postural tremor	353116	RILPL1	OMIM:619790
HP:0002174	Postural tremor	2643	GCH1	OMIM:128230
HP:0002174	Postural tremor	2643	GCH1	ORPHA:98808
HP:0002174	Postural tremor	80207	OPA3	ORPHA:67036
HP:0002174	Postural tremor	2521	FUS	OMIM:614782
HP:0002174	Postural tremor	123606	NIPA1	ORPHA:100988
HP:0002174	Postural tremor	4929	NR4A2	ORPHA:98808
HP:0002174	Postural tremor	4929	NR4A2	OMIM:619911
HP:0002174	Postural tremor	3615	IMPDH2	ORPHA:98808
HP:0002174	Postural tremor	23533	PIK3R5	ORPHA:64753
HP:0002174	Postural tremor	23064	SETX	ORPHA:64753
HP:0002174	Postural tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0002174	Postural tremor	27235	COQ2	ORPHA:227510
HP:0002174	Postural tremor	27235	COQ2	ORPHA:98933
HP:0002174	Postural tremor	9256	TSPOAP1	ORPHA:101150
HP:0002174	Postural tremor	7054	TH	ORPHA:101150
HP:0002174	Postural tremor	84277	DNAJC30	ORPHA:104
HP:0002174	Postural tremor	4535	MT-ND1	ORPHA:104
HP:0002174	Postural tremor	4535	MT-ND1	OMIM:535000
HP:0002174	Postural tremor	4536	MT-ND2	ORPHA:104
HP:0002174	Postural tremor	4536	MT-ND2	OMIM:535000
HP:0002174	Postural tremor	4538	MT-ND4	ORPHA:104
HP:0002174	Postural tremor	4538	MT-ND4	OMIM:535000
HP:0002174	Postural tremor	4720	NDUFS2	ORPHA:104
HP:0002174	Postural tremor	4512	MT-CO1	ORPHA:104
HP:0002174	Postural tremor	4514	MT-CO3	ORPHA:104
HP:0002174	Postural tremor	4514	MT-CO3	OMIM:535000
HP:0002174	Postural tremor	4519	MT-CYB	ORPHA:104
HP:0002174	Postural tremor	4519	MT-CYB	OMIM:535000
HP:0002174	Postural tremor	4508	MT-ATP6	ORPHA:104
HP:0002174	Postural tremor	4508	MT-ATP6	OMIM:535000
HP:0002174	Postural tremor	4540	MT-ND5	ORPHA:104
HP:0002174	Postural tremor	4540	MT-ND5	OMIM:535000
HP:0002174	Postural tremor	4541	MT-ND6	ORPHA:104
HP:0002174	Postural tremor	4541	MT-ND6	OMIM:535000
HP:0002174	Postural tremor	4539	MT-ND4L	ORPHA:104
HP:0002174	Postural tremor	4539	MT-ND4L	OMIM:535000
HP:0002174	Postural tremor	11128	POLR3A	ORPHA:447896
HP:0002174	Postural tremor	11128	POLR3A	OMIM:607694
HP:0002174	Postural tremor	5521	PPP2R2B	ORPHA:98762
HP:0002174	Postural tremor	6311	ATXN2	OMIM:183090
HP:0002174	Postural tremor	6311	ATXN2	ORPHA:98756
HP:0002174	Postural tremor	5155	PDGFB	OMIM:615483
HP:0002174	Postural tremor	26011	TENM4	OMIM:616736
HP:0002174	Postural tremor	2259	FGF14	OMIM:193003
HP:0002174	Postural tremor	2259	FGF14	OMIM:620174
HP:0002174	Postural tremor	4884	NPTX1	OMIM:620158
HP:0002174	Postural tremor	23400	ATP13A2	ORPHA:314632
HP:0002174	Postural tremor	6310	ATXN1	ORPHA:98755
HP:0002174	Postural tremor	2592	GALT	ORPHA:79239
HP:0002174	Postural tremor	1200	TPP1	ORPHA:284324
HP:0002174	Postural tremor	1200	TPP1	OMIM:609270
HP:0002174	Postural tremor	8575	PRKRA	ORPHA:210571
HP:0002174	Postural tremor	8575	PRKRA	OMIM:612067
HP:0002174	Postural tremor	2898	GRIK2	OMIM:611092
HP:0002174	Postural tremor	7345	UCHL1	OMIM:615491
HP:0002174	Postural tremor	10273	STUB1	ORPHA:412057
HP:0002174	Postural tremor	4604	MYBPC1	OMIM:618524
HP:0002174	Postural tremor	80208	SPG11	OMIM:616668
HP:0002174	Postural tremor	3752	KCND3	OMIM:607346
HP:0002174	Postural tremor	5832	ALDH18A1	ORPHA:447757
HP:0002174	Postural tremor	5832	ALDH18A1	ORPHA:447760
HP:0002174	Postural tremor	26580	BSCL2	OMIM:270685
HP:0002174	Postural tremor	26580	BSCL2	ORPHA:100998
HP:0002174	Postural tremor	9217	VAPB	OMIM:608627
HP:0002174	Postural tremor	10397	NDRG1	ORPHA:99950
HP:0002174	Postural tremor	9420	CYP7B1	OMIM:270800
HP:0002174	Postural tremor	11315	PARK7	OMIM:606324
HP:0002174	Postural tremor	2332	FMR1	OMIM:300623
HP:0002174	Postural tremor	51308	REEP2	ORPHA:401849
HP:0002174	Postural tremor	10935	PRDX3	OMIM:619862
HP:0002174	Postural tremor	1814	DRD3	OMIM:190300
HP:0002174	Postural tremor	950	SCARB2	OMIM:254900
HP:0002174	Postural tremor	339453	TMEM240	OMIM:607454
HP:0002174	Postural tremor	5277	PIGA	OMIM:301072
HP:0002174	Postural tremor	9927	MFN2	ORPHA:99947
HP:0002174	Postural tremor	55703	POLR3B	OMIM:607694
HP:0002174	Postural tremor	10382	TUBB4A	ORPHA:98805
HP:0002174	Postural tremor	8398	PLA2G6	OMIM:612953
HP:0002174	Postural tremor	1293	COL6A3	ORPHA:464440
HP:0002174	Postural tremor	3708	ITPR1	ORPHA:98769
HP:0002174	Postural tremor	8913	CACNA1G	ORPHA:458803
HP:0002174	Postural tremor	79587	CARS2	ORPHA:477774
HP:0002174	Postural tremor	4001	LMNB1	ORPHA:99027
HP:0002174	Postural tremor	63982	ANO3	ORPHA:420485
HP:0002174	Postural tremor	4359	MPZ	OMIM:180800
HP:0002174	Postural tremor	5376	PMP22	OMIM:180800
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11160	ERLIN2	ORPHA:280384
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2562	GABRB3	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8912	CACNA1H	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8629	JRK	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8629	JRK	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6134	RPL10	OMIM:300998
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6134	RPL10	ORPHA:459070
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57468	SLC12A5	OMIM:616685
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	OMIM:615871
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	OMIM:618482
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	351	APP	ORPHA:324723
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23446	SLC44A1	OMIM:618868
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4598	MVK	OMIM:260920
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55823	VPS11	ORPHA:466934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8924	HERC2	OMIM:615516
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1788	DNMT3A	OMIM:615879
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	OMIM:613855
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	OMIM:607682
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	114327	EFHC1	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	114327	EFHC1	ORPHA:1941
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	OMIM:613060
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1181	CLCN2	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22858	CILK1	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22858	CILK1	OMIM:617924
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23126	POGZ	ORPHA:468678
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55209	SETD5	ORPHA:404440
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	154881	KCTD7	ORPHA:263516
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5745	PTH1R	OMIM:600002
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4784	NFIX	ORPHA:447980
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2581	GALC	ORPHA:206443
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	80232	WDR26	ORPHA:513456
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	387119	CEP85L	OMIM:618873
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112755	STX1B	OMIM:616172
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112755	STX1B	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1841	DTYMK	OMIM:619847
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51111	KMT5B	OMIM:617788
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5184	PEPD	OMIM:170100
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2782	GNB1	OMIM:616973
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2891	GRIA2	OMIM:618917
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6904	TBCD	ORPHA:496641
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	90161	HS6ST2	OMIM:301025
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55777	MBD5	OMIM:156200
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4001	LMNB1	OMIM:619179
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	815	CAMK2A	OMIM:617798
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	267010	RNU12	OMIM:620208
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	267010	RNU12	ORPHA:512260
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51319	RSRC1	OMIM:618402
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	27315	PGAP2	OMIM:614207
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	7920	ABHD16A	OMIM:619735
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	549	AUH	OMIM:250950
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4566	MT-TK	ORPHA:1349
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8604	SLC25A12	OMIM:612949
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6390	SDHB	OMIM:619224
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2744	GLS	OMIM:618412
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	26040	SETBP1	OMIM:616078
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2903	GRIN2A	ORPHA:289266
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2903	GRIN2A	ORPHA:1945
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	523	ATP6V1A	OMIM:618012
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23314	SATB2	OMIM:612313
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55623	THUMPD1	OMIM:619989
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84059	ADGRV1	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84059	ADGRV1	OMIM:604352
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	610	HCN2	OMIM:602477
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3737	KCNA2	OMIM:616366
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11154	AP4S1	OMIM:614067
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	64849	SLC13A3	OMIM:618384
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22866	CNKSR2	OMIM:301008
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6711	SPTBN1	OMIM:619475
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8659	ALDH4A1	ORPHA:79101
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55343	SLC35C1	OMIM:266265
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10236	HNRNPR	OMIM:620073
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4094	MAF	ORPHA:1272
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79143	MBOAT7	OMIM:617188
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1806	DPYD	ORPHA:1675
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55717	WDR11	OMIM:620237
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2593	GAMT	OMIM:612736
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2556	GABRA3	OMIM:301091
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55252	ASXL2	OMIM:617190
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	34	ACADM	ORPHA:42
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	54802	TRIT1	OMIM:617873
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23219	FBXO28	OMIM:619777
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	27286	SRPX2	ORPHA:1945
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84706	GPT2	ORPHA:477673
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	284361	EMC10	OMIM:619264
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3763	KCNJ6	OMIM:614098
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57094	CPA6	OMIM:614418
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6792	CDKL5	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3736	KCNA1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	9091	PIGQ	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2775	GNAO1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	81603	TRIM8	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2902	GRIN1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79751	SLC25A22	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	150094	SIK1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8573	CASK	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23312	DMXL2	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2917	GRM7	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	170302	ARX	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11284	PNKP	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51227	PIGP	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4761	NEUROD2	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	283989	TSEN54	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	116461	TSEN15	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79042	TSEN34	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	80746	TSEN2	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51091	SEPSECS	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10157	AASS	ORPHA:2203
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6328	SCN3A	OMIM:617935
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3785	KCNQ2	ORPHA:1949
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3785	KCNQ2	ORPHA:306
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3786	KCNQ3	ORPHA:1949
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3786	KCNQ3	ORPHA:306
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10815	CPLX1	ORPHA:352582
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57465	TBC1D24	ORPHA:352582
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51322	WAC	ORPHA:466950
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1859	DYRK1A	ORPHA:464311
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6513	SLC2A1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8831	SYNGAP1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1173	AP2M1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	340533	NEXMIF	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1106	CHD2	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6529	SLC6A1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8131	NPRL3	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10641	NPRL2	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	9681	DEPDC5	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57526	PCDH19	ORPHA:101039
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57526	PCDH19	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	25839	COG4	ORPHA:263501
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84188	FAR1	OMIM:619338
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5138	PDE2A	ORPHA:31709
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6334	SCN8A	ORPHA:31709
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112476	PRRT2	ORPHA:31709
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112476	PRRT2	ORPHA:569
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6335	SCN9A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6326	SCN2A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2554	GABRA1	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6323	SCN1A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6323	SCN1A	ORPHA:569
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	135	ADORA2A	ORPHA:363549
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	773	CACNA1A	ORPHA:569
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	477	ATP1A2	ORPHA:569
HP:0002176	Spinal cord compression	5251	PHEX	OMIM:307800
HP:0002176	Spinal cord compression	4921	DDR2	OMIM:271665
HP:0002176	Spinal cord compression	595	CCND1	ORPHA:29073
HP:0002176	Spinal cord compression	3423	IDS	ORPHA:217085
HP:0002176	Spinal cord compression	3423	IDS	ORPHA:217093
HP:0002176	Spinal cord compression	324	APC	ORPHA:99818
HP:0002176	Spinal cord compression	1280	COL2A1	ORPHA:94068
HP:0002176	Spinal cord compression	1280	COL2A1	ORPHA:485
HP:0002176	Spinal cord compression	1280	COL2A1	ORPHA:93346
HP:0002176	Spinal cord compression	2778	GNAS	ORPHA:79443
HP:0002176	Spinal cord compression	2131	EXT1	ORPHA:321
HP:0002176	Spinal cord compression	2132	EXT2	ORPHA:321
HP:0002176	Spinal cord compression	59341	TRPV4	OMIM:113500
HP:0002176	Spinal cord compression	25839	COG4	OMIM:618150
HP:0002176	Spinal cord compression	3043	HBB	ORPHA:231222
HP:0002176	Spinal cord compression	1836	SLC26A2	OMIM:222600
HP:0002176	Spinal cord compression	2317	FLNB	OMIM:150250
HP:0002176	Spinal cord compression	207	AKT1	OMIM:176920
HP:0002176	Spinal cord compression	23095	KIF1B	OMIM:256700
HP:0002176	Spinal cord compression	25871	NEPRO	OMIM:618853
HP:0002176	Spinal cord compression	2304	FOXE1	ORPHA:319487
HP:0002176	Spinal cord compression	3026	HABP2	ORPHA:319487
HP:0002176	Spinal cord compression	9562	MINPP1	ORPHA:319487
HP:0002176	Spinal cord compression	567	B2M	ORPHA:314652
HP:0002176	Spinal cord compression	1763	DNA2	OMIM:615807
HP:0002176	Spinal cord compression	126792	B3GALT6	OMIM:271640
HP:0002176	Spinal cord compression	1311	COMP	OMIM:177170
HP:0002176	Spinal cord compression	2137	EXTL3	ORPHA:508533
HP:0002176	Spinal cord compression	1387	CREBBP	ORPHA:353277
HP:0002176	Spinal cord compression	1387	CREBBP	ORPHA:353281
HP:0002176	Spinal cord compression	6023	RMRP	OMIM:607095
HP:0002176	Spinal cord compression	4784	NFIX	OMIM:602535
HP:0002176	Spinal cord compression	2033	EP300	ORPHA:353284
HP:0002176	Spinal cord compression	3425	IDUA	OMIM:607016
HP:0002176	Spinal cord compression	415	ARSL	ORPHA:79345
HP:0002179	Opisthotonus	2137	EXTL3	ORPHA:508533
HP:0002179	Opisthotonus	4702	NDUFA8	OMIM:619272
HP:0002179	Opisthotonus	158	ADSL	OMIM:103050
HP:0002179	Opisthotonus	443	ASPA	OMIM:271900
HP:0002179	Opisthotonus	3763	KCNJ6	ORPHA:435628
HP:0002179	Opisthotonus	3763	KCNJ6	OMIM:614098
HP:0002179	Opisthotonus	1727	CYB5R3	OMIM:250800
HP:0002179	Opisthotonus	23516	SLC39A14	OMIM:617013
HP:0002179	Opisthotonus	3747	KCNC2	OMIM:619913
HP:0002179	Opisthotonus	4337	MOCS1	OMIM:252150
HP:0002179	Opisthotonus	54820	NDE1	ORPHA:2177
HP:0002179	Opisthotonus	80704	SLC19A3	OMIM:607483
HP:0002179	Opisthotonus	2629	GBA1	OMIM:608013
HP:0002179	Opisthotonus	81570	CLPB	ORPHA:445038
HP:0002179	Opisthotonus	81570	CLPB	OMIM:616271
HP:0002179	Opisthotonus	3251	HPRT1	OMIM:300322
HP:0002179	Opisthotonus	2521	FUS	ORPHA:300605
HP:0002179	Opisthotonus	80208	SPG11	ORPHA:300605
HP:0002179	Opisthotonus	10280	SIGMAR1	ORPHA:300605
HP:0002179	Opisthotonus	10558	SPTLC1	ORPHA:300605
HP:0002179	Opisthotonus	57679	ALS2	ORPHA:300605
HP:0002179	Opisthotonus	57679	ALS2	OMIM:205100
HP:0002179	Opisthotonus	55610	VPS50	OMIM:619685
HP:0002179	Opisthotonus	440138	ALG11	ORPHA:280071
HP:0002179	Opisthotonus	440138	ALG11	OMIM:613661
HP:0002179	Opisthotonus	51506	UFC1	OMIM:618076
HP:0002179	Opisthotonus	7358	UGDH	OMIM:618792
HP:0002179	Opisthotonus	1841	DTYMK	OMIM:619847
HP:0002179	Opisthotonus	10157	AASS	ORPHA:2203
HP:0002179	Opisthotonus	4976	OPA1	OMIM:616896
HP:0002179	Opisthotonus	7284	TUFM	OMIM:610678
HP:0002179	Opisthotonus	1759	DNM1	OMIM:620352
HP:0002179	Opisthotonus	7143	TNR	OMIM:619653
HP:0002179	Opisthotonus	5455	POU3F3	OMIM:618604
HP:0002179	Opisthotonus	2902	GRIN1	OMIM:619814
HP:0002179	Opisthotonus	55275	VPS53	OMIM:615851
HP:0002179	Opisthotonus	80746	TSEN2	OMIM:612389
HP:0002179	Opisthotonus	283989	TSEN54	OMIM:277470
HP:0002179	Opisthotonus	114034	TOE1	OMIM:614969
HP:0002179	Opisthotonus	2581	GALC	ORPHA:206436
HP:0002179	Opisthotonus	5660	PSAP	ORPHA:206436
HP:0002179	Opisthotonus	64087	MCCC2	OMIM:210210
HP:0002179	Opisthotonus	5048	PAFAH1B1	ORPHA:95232
HP:0002179	Opisthotonus	2639	GCDH	OMIM:231670
HP:0002179	Opisthotonus	5805	PTS	ORPHA:13
HP:0002179	Opisthotonus	2898	GRIK2	OMIM:619580
HP:0002179	Opisthotonus	27247	NFU1	OMIM:605711
HP:0002179	Opisthotonus	80025	PANK2	ORPHA:216866
HP:0002179	Opisthotonus	132158	GLYCTK	OMIM:220120
HP:0002179	Opisthotonus	79587	CARS2	OMIM:616672
HP:0002179	Opisthotonus	80199	FUZ	ORPHA:1136
HP:0002179	Opisthotonus	4338	MOCS2	OMIM:252160
HP:0002179	Opisthotonus	56922	MCCC1	OMIM:210200
HP:0002179	Opisthotonus	9244	CRLF1	OMIM:272430
HP:0002179	Opisthotonus	26040	SETBP1	OMIM:269150
HP:0012397	Aortic atherosclerotic lesion	3949	LDLR	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	255738	PCSK9	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	26119	LDLRAP1	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	338	APOB	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	64240	ABCG5	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	64241	ABCG8	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	4000	LMNA	ORPHA:363618
HP:0012397	Aortic atherosclerotic lesion	348	APOE	ORPHA:412
HP:0012397	Aortic atherosclerotic lesion	1581	CYP7A1	ORPHA:209902
HP:0012398	Peripheral edema	51422	PRKAG2	OMIM:261740
HP:0012398	Peripheral edema	10568	SLC34A2	ORPHA:60025
HP:0012398	Peripheral edema	9326	ZNHIT3	ORPHA:2836
HP:0012398	Peripheral edema	547	KIF1A	ORPHA:2836
HP:0012398	Peripheral edema	84665	MYPN	ORPHA:75249
HP:0012398	Peripheral edema	2318	FLNC	ORPHA:75249
HP:0012398	Peripheral edema	7139	TNNT2	ORPHA:75249
HP:0012398	Peripheral edema	7137	TNNI3	ORPHA:75249
HP:0012398	Peripheral edema	10112	KIF20A	ORPHA:75249
HP:0012398	Peripheral edema	2492	FSHR	ORPHA:64739
HP:0012398	Peripheral edema	2050	EPHB4	ORPHA:90186
HP:0012398	Peripheral edema	7092	TLL1	ORPHA:99106
HP:0012393	Allergy	10999	SLC27A4	OMIM:608649
HP:0012393	Allergy	1369	CPN1	OMIM:212070
HP:0012393	Allergy	23387	SIK3	OMIM:618162
HP:0012393	Allergy	7941	PLA2G7	OMIM:147050
HP:0012393	Allergy	50615	IL21R	OMIM:147050
HP:0012393	Allergy	3566	IL4R	OMIM:147050
HP:0012393	Allergy	2206	MS4A2	OMIM:147050
HP:0012393	Allergy	146206	CARMIL2	OMIM:618131
HP:0012393	Allergy	11005	SPINK5	OMIM:256500
HP:0012393	Allergy	1041	CDSN	ORPHA:90368
HP:0012393	Allergy	121391	KRT74	ORPHA:90368
HP:0012393	Allergy	5238	PGM3	ORPHA:443811
HP:0012393	Allergy	5238	PGM3	OMIM:615816
HP:0012393	Allergy	5336	PLCG2	OMIM:614468
HP:0012393	Allergy	84701	COX4I2	OMIM:612714
HP:0012393	Allergy	3514	IGKC	ORPHA:183675
HP:0012393	Allergy	3501	IGHG2	ORPHA:183675
HP:0012393	Allergy	100	ADA	ORPHA:277
HP:0012393	Allergy	9051	PSTPIP1	OMIM:604416
HP:0012393	Allergy	9333	TGM5	ORPHA:263534
HP:0012393	Allergy	1475	CSTA	ORPHA:263534
HP:0012393	Allergy	1105	CHD1	ORPHA:529965
HP:0012393	Allergy	27086	FOXP1	ORPHA:391372
HP:0012393	Allergy	1493	CTLA4	OMIM:616100
HP:0012393	Allergy	6711	SPTBN1	OMIM:619475
HP:0012393	Allergy	2475	MTOR	ORPHA:457485
HP:0012393	Allergy	50943	FOXP3	ORPHA:37042
HP:0012393	Allergy	84100	ARL6	OMIM:209900
HP:0012393	Allergy	79140	CCDC28B	OMIM:209900
HP:0012393	Allergy	582	BBS1	OMIM:209900
HP:0012393	Allergy	9939	RBM8A	OMIM:274000
HP:0012393	Allergy	54914	FOCAD	OMIM:619991
HP:0012393	Allergy	10526	IPO8	OMIM:619472
HP:0012393	Allergy	81704	DOCK8	OMIM:243700
HP:0012393	Allergy	55553	SOX6	OMIM:618971
HP:0012393	Allergy	3572	IL6ST	OMIM:619752
HP:0012393	Allergy	3572	IL6ST	OMIM:618523
HP:0012393	Allergy	816	CAMK2B	OMIM:617799
HP:0012393	Allergy	84433	CARD11	OMIM:617638
HP:0012393	Allergy	3716	JAK1	OMIM:618999
HP:0012393	Allergy	1828	DSG1	OMIM:615508
HP:0012393	Allergy	10060	ABCC9	OMIM:619719
HP:0012390	Anal fissure	79415	CYBC1	OMIM:618935
HP:0012390	Anal fissure	4312	MMP1	ORPHA:79408
HP:0012390	Anal fissure	1294	COL7A1	ORPHA:79408
HP:0012390	Anal fissure	1294	COL7A1	ORPHA:89842
HP:0012390	Anal fissure	6868	ADAM17	ORPHA:294023
HP:0012390	Anal fissure	1956	EGFR	ORPHA:294023
HP:0012391	Hyporeflexia of upper limbs	54332	GDAP1	ORPHA:99948
HP:0012391	Hyporeflexia of upper limbs	5376	PMP22	ORPHA:90658
HP:0012391	Hyporeflexia of upper limbs	51	ACOX1	OMIM:618960
HP:0012391	Hyporeflexia of upper limbs	6261	RYR1	ORPHA:178145
HP:0012391	Hyporeflexia of upper limbs	3315	HSPB1	OMIM:606595
HP:0012391	Hyporeflexia of upper limbs	4556	MT-TE	ORPHA:2596
HP:0012391	Hyporeflexia of upper limbs	9711	RUBCN	OMIM:615705
HP:0012391	Hyporeflexia of upper limbs	10159	ATP6AP2	ORPHA:93952
HP:0012391	Hyporeflexia of upper limbs	8869	ST3GAL5	OMIM:609056
HP:0002180	Neurodegeneration	2074	ERCC6	OMIM:214150
HP:0002180	Neurodegeneration	11152	WDR45	OMIM:300894
HP:0002180	Neurodegeneration	2512	FTL	OMIM:606159
HP:0002180	Neurodegeneration	55739	NAXD	OMIM:618321
HP:0002180	Neurodegeneration	7345	UCHL1	OMIM:615491
HP:0002180	Neurodegeneration	3423	IDS	OMIM:309900
HP:0002180	Neurodegeneration	7343	UBTF	OMIM:617672
HP:0002180	Neurodegeneration	6711	SPTBN1	OMIM:619475
HP:0002180	Neurodegeneration	4683	NBN	OMIM:251260
HP:0002180	Neurodegeneration	2990	GUSB	OMIM:253220
HP:0002180	Neurodegeneration	54902	TTC19	OMIM:615157
HP:0002180	Neurodegeneration	1737	DLAT	ORPHA:79244
HP:0002180	Neurodegeneration	25978	CHMP2B	ORPHA:803
HP:0002180	Neurodegeneration	3178	HNRNPA1	ORPHA:803
HP:0002180	Neurodegeneration	8148	TAF15	ORPHA:803
HP:0002180	Neurodegeneration	5445	PON2	ORPHA:803
HP:0002180	Neurodegeneration	9217	VAPB	ORPHA:803
HP:0002180	Neurodegeneration	8878	SQSTM1	ORPHA:803
HP:0002180	Neurodegeneration	5630	PRPH	ORPHA:803
HP:0002180	Neurodegeneration	29110	TBK1	ORPHA:803
HP:0002180	Neurodegeneration	55830	GLT8D1	ORPHA:803
HP:0002180	Neurodegeneration	755	CFAP410	ORPHA:803
HP:0002180	Neurodegeneration	10891	PPARGC1A	ORPHA:803
HP:0002180	Neurodegeneration	6647	SOD1	ORPHA:803
HP:0002180	Neurodegeneration	10133	OPTN	ORPHA:803
HP:0002180	Neurodegeneration	1639	DCTN1	ORPHA:803
HP:0002180	Neurodegeneration	9896	FIG4	ORPHA:803
HP:0002180	Neurodegeneration	5444	PON1	ORPHA:803
HP:0002180	Neurodegeneration	5446	PON3	ORPHA:803
HP:0002180	Neurodegeneration	4744	NEFH	ORPHA:803
HP:0002180	Neurodegeneration	5216	PFN1	ORPHA:803
HP:0002180	Neurodegeneration	9782	MATR3	ORPHA:803
HP:0002180	Neurodegeneration	54209	TREM2	ORPHA:803
HP:0002180	Neurodegeneration	7415	VCP	ORPHA:803
HP:0002180	Neurodegeneration	283	ANG	ORPHA:803
HP:0002180	Neurodegeneration	23435	TARDBP	ORPHA:803
HP:0002180	Neurodegeneration	29978	UBQLN2	ORPHA:803
HP:0002180	Neurodegeneration	2733	GLE1	ORPHA:803
HP:0002180	Neurodegeneration	2521	FUS	ORPHA:803
HP:0002180	Neurodegeneration	4750	NEK1	ORPHA:803
HP:0002180	Neurodegeneration	2043	EPHA4	ORPHA:803
HP:0002180	Neurodegeneration	6311	ATXN2	ORPHA:803
HP:0002180	Neurodegeneration	1610	DAO	ORPHA:803
HP:0002180	Neurodegeneration	2066	ERBB4	ORPHA:803
HP:0002180	Neurodegeneration	311	ANXA11	ORPHA:803
HP:0002180	Neurodegeneration	23025	UNC13A	ORPHA:803
HP:0002180	Neurodegeneration	899	CCNF	ORPHA:803
HP:0002180	Neurodegeneration	400916	CHCHD10	ORPHA:803
HP:0002180	Neurodegeneration	27235	COQ2	OMIM:146500
HP:0002180	Neurodegeneration	5111	PCNA	OMIM:615919
HP:0002180	Neurodegeneration	5111	PCNA	ORPHA:438134
HP:0002180	Neurodegeneration	80025	PANK2	OMIM:234200
HP:0002180	Neurodegeneration	26137	ZBTB20	OMIM:259050
HP:0002180	Neurodegeneration	215	ABCD1	OMIM:300100
HP:0002180	Neurodegeneration	1436	CSF1R	OMIM:618476
HP:0002180	Neurodegeneration	2760	GM2A	ORPHA:309246
HP:0002180	Neurodegeneration	2760	GM2A	OMIM:272750
HP:0002180	Neurodegeneration	83636	C19orf12	OMIM:614298
HP:0002180	Neurodegeneration	25828	TXN2	ORPHA:478029
HP:0002180	Neurodegeneration	2581	GALC	OMIM:245200
HP:0002180	Neurodegeneration	2348	FOLR1	OMIM:613068
HP:0002180	Neurodegeneration	80347	COASY	OMIM:615643
HP:0002180	Neurodegeneration	8398	PLA2G6	OMIM:256600
HP:0002180	Neurodegeneration	8398	PLA2G6	OMIM:610217
HP:0002180	Neurodegeneration	57505	AARS2	OMIM:615889
HP:0002180	Neurodegeneration	128989	TANGO2	OMIM:616878
HP:0002180	Neurodegeneration	79731	NARS2	OMIM:616239
HP:0002180	Neurodegeneration	256471	MFSD8	OMIM:610951
HP:0002180	Neurodegeneration	1130	LYST	OMIM:214500
HP:0002180	Neurodegeneration	3425	IDUA	OMIM:607014
HP:0002180	Neurodegeneration	79152	FA2H	OMIM:612319
HP:0002180	Neurodegeneration	8883	NAE1	OMIM:620210
HP:0002180	Neurodegeneration	3028	HSD17B10	ORPHA:391428
HP:0002180	Neurodegeneration	4137	MAPT	OMIM:601104
HP:0002180	Neurodegeneration	8622	PDE8B	OMIM:609161
HP:0002180	Neurodegeneration	3064	HTT	ORPHA:399
HP:0002180	Neurodegeneration	6515	SLC2A3	ORPHA:399
HP:0002180	Neurodegeneration	4287	ATXN3	ORPHA:276238
HP:0002180	Neurodegeneration	4287	ATXN3	ORPHA:276244
HP:0002180	Neurodegeneration	4287	ATXN3	ORPHA:276241
HP:0002180	Neurodegeneration	10535	RNASEH2A	ORPHA:51
HP:0002180	Neurodegeneration	84153	RNASEH2C	ORPHA:51
HP:0002180	Neurodegeneration	25939	SAMHD1	ORPHA:51
HP:0002180	Neurodegeneration	79621	RNASEH2B	ORPHA:51
HP:0002180	Neurodegeneration	103	ADAR	ORPHA:51
HP:0002180	Neurodegeneration	11277	TREX1	ORPHA:51
HP:0002180	Neurodegeneration	100147744	RNU7-1	ORPHA:51
HP:0002180	Neurodegeneration	134353	LSM11	ORPHA:51
HP:0002180	Neurodegeneration	64135	IFIH1	ORPHA:51
HP:0002181	Cerebral edema	6611	SMS	ORPHA:3063
HP:0002181	Cerebral edema	55739	NAXD	OMIM:618321
HP:0002181	Cerebral edema	51241	COX16	OMIM:619355
HP:0002181	Cerebral edema	11019	LIAS	OMIM:614462
HP:0002181	Cerebral edema	34	ACADM	OMIM:201450
HP:0002181	Cerebral edema	1629	DBT	OMIM:248600
HP:0002181	Cerebral edema	593	BCKDHA	OMIM:248600
HP:0002181	Cerebral edema	594	BCKDHB	OMIM:248600
HP:0002181	Cerebral edema	4724	NDUFS4	OMIM:252010
HP:0002181	Cerebral edema	5009	OTC	OMIM:311250
HP:0002181	Cerebral edema	3785	KCNQ2	ORPHA:439218
HP:0002181	Cerebral edema	10165	SLC25A13	ORPHA:247585
HP:0002181	Cerebral edema	10165	SLC25A13	OMIM:603471
HP:0002181	Cerebral edema	51692	CPSF3	OMIM:619876
HP:0002181	Cerebral edema	435	ASL	OMIM:207900
HP:0002181	Cerebral edema	708	C1QBP	OMIM:617713
HP:0002181	Cerebral edema	445	ASS1	OMIM:215700
HP:0002181	Cerebral edema	773	CACNA1A	ORPHA:569
HP:0002181	Cerebral edema	112476	PRRT2	ORPHA:569
HP:0002181	Cerebral edema	6323	SCN1A	ORPHA:569
HP:0002181	Cerebral edema	477	ATP1A2	ORPHA:569
HP:0002181	Cerebral edema	477	ATP1A2	OMIM:602481
HP:0002181	Cerebral edema	5903	RANBP2	OMIM:608033
HP:0002181	Cerebral edema	5903	RANBP2	ORPHA:88619
HP:0002181	Cerebral edema	128240	NAXE	OMIM:617186
HP:0002181	Cerebral edema	1376	CPT2	OMIM:614212
HP:0002181	Cerebral edema	28976	ACAD9	OMIM:611126
HP:0002181	Cerebral edema	28976	ACAD9	ORPHA:99901
HP:0002181	Cerebral edema	1373	CPS1	OMIM:237300
HP:0002181	Cerebral edema	3908	LAMA2	ORPHA:258
HP:0002181	Cerebral edema	7187	TRAF3	ORPHA:1930
HP:0002181	Cerebral edema	81622	UNC93B1	ORPHA:1930
HP:0002181	Cerebral edema	148022	TICAM1	ORPHA:1930
HP:0002181	Cerebral edema	7098	TLR3	ORPHA:1930
HP:0002181	Cerebral edema	29110	TBK1	ORPHA:1930
HP:0002183	Phonophobia	1909	EDNRA	OMIM:157300
HP:0002183	Phonophobia	2099	ESR1	OMIM:157300
HP:0002183	Phonophobia	7124	TNF	OMIM:157300
HP:0002183	Phonophobia	1387	CREBBP	OMIM:180849
HP:0002183	Phonophobia	2033	EP300	OMIM:180849
HP:0002183	Phonophobia	6804	STX1A	ORPHA:904
HP:0002183	Phonophobia	7461	CLIP2	ORPHA:904
HP:0002183	Phonophobia	84277	DNAJC30	ORPHA:904
HP:0002183	Phonophobia	8468	FKBP6	ORPHA:904
HP:0002183	Phonophobia	5982	RFC2	ORPHA:904
HP:0002183	Phonophobia	2969	GTF2I	ORPHA:904
HP:0002183	Phonophobia	3984	LIMK1	ORPHA:904
HP:0002183	Phonophobia	9569	GTF2IRD1	ORPHA:904
HP:0002183	Phonophobia	155382	VPS37D	ORPHA:904
HP:0002183	Phonophobia	155368	METTL27	ORPHA:904
HP:0002183	Phonophobia	114049	BUD23	ORPHA:904
HP:0002183	Phonophobia	7458	EIF4H	ORPHA:904
HP:0002183	Phonophobia	84163	GTF2IRD2	ORPHA:904
HP:0002183	Phonophobia	9275	BCL7B	ORPHA:904
HP:0002183	Phonophobia	26608	TBL2	ORPHA:904
HP:0002183	Phonophobia	653361	NCF1	ORPHA:904
HP:0002183	Phonophobia	135886	TMEM270	ORPHA:904
HP:0002183	Phonophobia	51085	MLXIPL	ORPHA:904
HP:0002183	Phonophobia	51085	MLXIPL	OMIM:194050
HP:0002183	Phonophobia	9031	BAZ1B	ORPHA:904
HP:0002183	Phonophobia	2006	ELN	ORPHA:904
HP:0002183	Phonophobia	2006	ELN	OMIM:194050
HP:0002183	Phonophobia	6507	SLC1A3	OMIM:612656
HP:0002183	Phonophobia	6507	SLC1A3	ORPHA:209967
HP:0002183	Phonophobia	6323	SCN1A	OMIM:609634
HP:0010818	Generalized tonic seizure	610	HCN2	OMIM:602477
HP:0010818	Generalized tonic seizure	57526	PCDH19	ORPHA:101039
HP:0010818	Generalized tonic seizure	57526	PCDH19	ORPHA:33069
HP:0010818	Generalized tonic seizure	6812	STXBP1	OMIM:612164
HP:0010818	Generalized tonic seizure	2775	GNAO1	OMIM:615473
HP:0010818	Generalized tonic seizure	2775	GNAO1	ORPHA:1934
HP:0010818	Generalized tonic seizure	51604	PIGT	ORPHA:369837
HP:0010818	Generalized tonic seizure	23241	PACS2	OMIM:618067
HP:0010818	Generalized tonic seizure	10815	CPLX1	OMIM:617976
HP:0010818	Generalized tonic seizure	85440	DOCK7	ORPHA:411986
HP:0010818	Generalized tonic seizure	25977	NECAP1	OMIM:615833
HP:0010818	Generalized tonic seizure	4191	MDH2	OMIM:617339
HP:0010818	Generalized tonic seizure	6334	SCN8A	ORPHA:306
HP:0010818	Generalized tonic seizure	6326	SCN2A	ORPHA:306
HP:0010818	Generalized tonic seizure	6326	SCN2A	ORPHA:33069
HP:0010818	Generalized tonic seizure	6326	SCN2A	ORPHA:1934
HP:0010818	Generalized tonic seizure	112476	PRRT2	ORPHA:306
HP:0010818	Generalized tonic seizure	3785	KCNQ2	ORPHA:306
HP:0010818	Generalized tonic seizure	3785	KCNQ2	ORPHA:1949
HP:0010818	Generalized tonic seizure	3785	KCNQ2	ORPHA:439218
HP:0010818	Generalized tonic seizure	3786	KCNQ3	ORPHA:306
HP:0010818	Generalized tonic seizure	3786	KCNQ3	ORPHA:1949
HP:0010818	Generalized tonic seizure	6134	RPL10	ORPHA:459070
HP:0010818	Generalized tonic seizure	6335	SCN9A	ORPHA:33069
HP:0010818	Generalized tonic seizure	2554	GABRA1	ORPHA:33069
HP:0010818	Generalized tonic seizure	6323	SCN1A	ORPHA:33069
HP:0010818	Generalized tonic seizure	6323	SCN1A	OMIM:604403
HP:0010818	Generalized tonic seizure	6323	SCN1A	ORPHA:2382
HP:0010818	Generalized tonic seizure	6324	SCN1B	ORPHA:33069
HP:0010818	Generalized tonic seizure	6324	SCN1B	ORPHA:1934
HP:0010818	Generalized tonic seizure	2566	GABRG2	ORPHA:33069
HP:0010818	Generalized tonic seizure	785	CACNB4	OMIM:607682
HP:0010818	Generalized tonic seizure	22796	COG2	ORPHA:435934
HP:0010818	Generalized tonic seizure	22796	COG2	OMIM:617395
HP:0010818	Generalized tonic seizure	55610	VPS50	OMIM:619685
HP:0010818	Generalized tonic seizure	2782	GNB1	OMIM:616973
HP:0010818	Generalized tonic seizure	6506	SLC1A2	OMIM:617105
HP:0010818	Generalized tonic seizure	56997	COQ8A	OMIM:612016
HP:0010818	Generalized tonic seizure	57582	KCNT1	OMIM:614959
HP:0010818	Generalized tonic seizure	7846	TUBA1A	OMIM:611603
HP:0010818	Generalized tonic seizure	6904	TBCD	ORPHA:496641
HP:0010818	Generalized tonic seizure	6904	TBCD	OMIM:617193
HP:0010818	Generalized tonic seizure	23229	ARHGEF9	ORPHA:163985
HP:0010818	Generalized tonic seizure	340024	SLC6A19	OMIM:234500
HP:0010818	Generalized tonic seizure	84059	ADGRV1	OMIM:604352
HP:0010818	Generalized tonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0010818	Generalized tonic seizure	8813	DPM1	ORPHA:79322
HP:0010818	Generalized tonic seizure	128989	TANGO2	ORPHA:480864
HP:0010818	Generalized tonic seizure	6792	CDKL5	ORPHA:505652
HP:0010818	Generalized tonic seizure	6792	CDKL5	ORPHA:1934
HP:0010818	Generalized tonic seizure	1759	DNM1	ORPHA:2382
HP:0010818	Generalized tonic seizure	2562	GABRB3	ORPHA:2382
HP:0010818	Generalized tonic seizure	5602	MAPK10	ORPHA:2382
HP:0010818	Generalized tonic seizure	773	CACNA1A	ORPHA:2382
HP:0010818	Generalized tonic seizure	23316	CUX2	ORPHA:2382
HP:0010818	Generalized tonic seizure	1106	CHD2	ORPHA:2382
HP:0010818	Generalized tonic seizure	3735	KARS1	OMIM:619147
HP:0010818	Generalized tonic seizure	1917	EEF1A2	OMIM:616393
HP:0010818	Generalized tonic seizure	2903	GRIN2A	ORPHA:289266
HP:0010818	Generalized tonic seizure	6304	SATB1	OMIM:619229
HP:0010818	Generalized tonic seizure	3736	KCNA1	ORPHA:1934
HP:0010818	Generalized tonic seizure	9091	PIGQ	ORPHA:1934
HP:0010818	Generalized tonic seizure	81603	TRIM8	ORPHA:1934
HP:0010818	Generalized tonic seizure	2902	GRIN1	ORPHA:1934
HP:0010818	Generalized tonic seizure	2902	GRIN1	ORPHA:208447
HP:0010818	Generalized tonic seizure	79751	SLC25A22	ORPHA:1934
HP:0010818	Generalized tonic seizure	150094	SIK1	ORPHA:1934
HP:0010818	Generalized tonic seizure	8573	CASK	ORPHA:1934
HP:0010818	Generalized tonic seizure	23312	DMXL2	ORPHA:1934
HP:0010818	Generalized tonic seizure	2917	GRM7	ORPHA:1934
HP:0010818	Generalized tonic seizure	170302	ARX	ORPHA:1934
HP:0010818	Generalized tonic seizure	11284	PNKP	ORPHA:1934
HP:0010818	Generalized tonic seizure	51227	PIGP	ORPHA:1934
HP:0010818	Generalized tonic seizure	4761	NEUROD2	ORPHA:1934
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:606889
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:607822
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:104310
HP:0002185	Neurofibrillary tangles	5664	PSEN2	OMIM:606889
HP:0002185	Neurofibrillary tangles	5664	PSEN2	ORPHA:1020
HP:0002185	Neurofibrillary tangles	5621	PRNP	OMIM:606688
HP:0002185	Neurofibrillary tangles	5621	PRNP	OMIM:137440
HP:0002185	Neurofibrillary tangles	8398	PLA2G6	ORPHA:199351
HP:0002185	Neurofibrillary tangles	8398	PLA2G6	OMIM:610217
HP:0002185	Neurofibrillary tangles	10577	NPC2	OMIM:607625
HP:0002185	Neurofibrillary tangles	4137	MAPT	OMIM:601104
HP:0002185	Neurofibrillary tangles	4137	MAPT	ORPHA:100070
HP:0002185	Neurofibrillary tangles	5663	PSEN1	OMIM:607822
HP:0002185	Neurofibrillary tangles	5663	PSEN1	ORPHA:1020
HP:0002185	Neurofibrillary tangles	5663	PSEN1	ORPHA:100070
HP:0002185	Neurofibrillary tangles	9445	ITM2B	OMIM:117300
HP:0002185	Neurofibrillary tangles	1540	CYLD	OMIM:619132
HP:0002185	Neurofibrillary tangles	10347	ABCA7	OMIM:608907
HP:0002185	Neurofibrillary tangles	10347	ABCA7	ORPHA:1020
HP:0002185	Neurofibrillary tangles	54832	VPS13C	OMIM:616840
HP:0002185	Neurofibrillary tangles	10452	TOMM40	ORPHA:1020
HP:0002185	Neurofibrillary tangles	351	APP	ORPHA:1020
HP:0002185	Neurofibrillary tangles	351	APP	OMIM:104300
HP:0002185	Neurofibrillary tangles	54209	TREM2	ORPHA:1020
HP:0002185	Neurofibrillary tangles	54209	TREM2	ORPHA:100070
HP:0002185	Neurofibrillary tangles	6653	SORL1	ORPHA:1020
HP:0002185	Neurofibrillary tangles	4353	MPO	OMIM:104300
HP:0002185	Neurofibrillary tangles	4846	NOS3	OMIM:104300
HP:0002185	Neurofibrillary tangles	3077	HFE	OMIM:104300
HP:0002185	Neurofibrillary tangles	5328	PLAU	OMIM:104300
HP:0002185	Neurofibrillary tangles	4864	NPC1	OMIM:257220
HP:0002185	Neurofibrillary tangles	2896	GRN	OMIM:607485
HP:0002185	Neurofibrillary tangles	2896	GRN	ORPHA:100070
HP:0002185	Neurofibrillary tangles	25978	CHMP2B	ORPHA:100070
HP:0002185	Neurofibrillary tangles	54664	TMEM106B	ORPHA:100070
HP:0002185	Neurofibrillary tangles	7415	VCP	ORPHA:100070
HP:0002186	Apraxia	6095	RORA	OMIM:618060
HP:0002186	Apraxia	2895	GRID2	OMIM:616204
HP:0002186	Apraxia	26160	IFT172	OMIM:615630
HP:0002186	Apraxia	10059	DNM1L	OMIM:614388
HP:0002186	Apraxia	80184	CEP290	OMIM:610188
HP:0002186	Apraxia	79848	CSPP1	OMIM:615636
HP:0002186	Apraxia	79848	CSPP1	ORPHA:397715
HP:0002186	Apraxia	79848	CSPP1	ORPHA:475
HP:0002186	Apraxia	673	BRAF	OMIM:115150
HP:0002186	Apraxia	11284	PNKP	ORPHA:459033
HP:0002186	Apraxia	11284	PNKP	OMIM:616267
HP:0002186	Apraxia	51259	TMEM216	OMIM:608091
HP:0002186	Apraxia	56623	INPP5E	OMIM:213300
HP:0002186	Apraxia	56623	INPP5E	ORPHA:220493
HP:0002186	Apraxia	56623	INPP5E	ORPHA:1454
HP:0002186	Apraxia	56623	INPP5E	ORPHA:475
HP:0002186	Apraxia	23028	KDM1A	OMIM:616728
HP:0002186	Apraxia	23028	KDM1A	ORPHA:477993
HP:0002186	Apraxia	3708	ITPR1	ORPHA:208513
HP:0002186	Apraxia	4867	NPHP1	OMIM:609583
HP:0002186	Apraxia	4867	NPHP1	ORPHA:220497
HP:0002186	Apraxia	91147	TMEM67	OMIM:216360
HP:0002186	Apraxia	91147	TMEM67	ORPHA:1454
HP:0002186	Apraxia	91147	TMEM67	ORPHA:475
HP:0002186	Apraxia	91147	TMEM67	OMIM:610688
HP:0002186	Apraxia	9786	KIAA0586	ORPHA:397715
HP:0002186	Apraxia	9786	KIAA0586	ORPHA:475
HP:0002186	Apraxia	6658	SOX3	ORPHA:67045
HP:0002186	Apraxia	613	BCR	ORPHA:261330
HP:0002186	Apraxia	1399	CRKL	ORPHA:261330
HP:0002186	Apraxia	5594	MAPK1	ORPHA:261330
HP:0002186	Apraxia	51506	UFC1	OMIM:618076
HP:0002186	Apraxia	6311	ATXN2	OMIM:183090
HP:0002186	Apraxia	219854	TMEM218	OMIM:619562
HP:0002186	Apraxia	219854	TMEM218	ORPHA:475
HP:0002186	Apraxia	4649	MYO9A	OMIM:618198
HP:0002186	Apraxia	84162	BLTP1	OMIM:617822
HP:0002186	Apraxia	23322	RPGRIP1L	ORPHA:220497
HP:0002186	Apraxia	23322	RPGRIP1L	OMIM:611560
HP:0002186	Apraxia	23322	RPGRIP1L	ORPHA:1454
HP:0002186	Apraxia	23322	RPGRIP1L	OMIM:619113
HP:0002186	Apraxia	65062	TMEM237	ORPHA:220497
HP:0002186	Apraxia	65062	TMEM237	ORPHA:475
HP:0002186	Apraxia	54806	AHI1	ORPHA:220493
HP:0002186	Apraxia	54806	AHI1	OMIM:608629
HP:0002186	Apraxia	54806	AHI1	ORPHA:475
HP:0002186	Apraxia	153241	CEP120	ORPHA:220493
HP:0002186	Apraxia	153241	CEP120	ORPHA:475
HP:0002186	Apraxia	153241	CEP120	OMIM:617761
HP:0002186	Apraxia	54903	MKS1	ORPHA:220493
HP:0002186	Apraxia	54903	MKS1	ORPHA:475
HP:0002186	Apraxia	54903	MKS1	OMIM:617121
HP:0002186	Apraxia	95681	CEP41	ORPHA:220493
HP:0002186	Apraxia	95681	CEP41	ORPHA:475
HP:0002186	Apraxia	95681	CEP41	OMIM:614464
HP:0002186	Apraxia	51010	EXOSC3	OMIM:614678
HP:0002186	Apraxia	55768	NGLY1	ORPHA:404454
HP:0002186	Apraxia	347733	TUBB2B	ORPHA:467166
HP:0002186	Apraxia	7846	TUBA1A	ORPHA:467166
HP:0002186	Apraxia	10381	TUBB3	ORPHA:467166
HP:0002186	Apraxia	10381	TUBB3	ORPHA:300570
HP:0002186	Apraxia	84992	PIGY	ORPHA:247262
HP:0002186	Apraxia	84720	PIGO	ORPHA:247262
HP:0002186	Apraxia	93210	PGAP3	ORPHA:247262
HP:0002186	Apraxia	284098	PIGW	ORPHA:247262
HP:0002186	Apraxia	27315	PGAP2	ORPHA:247262
HP:0002186	Apraxia	55650	PIGV	ORPHA:247262
HP:0002186	Apraxia	9487	PIGL	ORPHA:247262
HP:0002186	Apraxia	8913	CACNA1G	OMIM:618087
HP:0002186	Apraxia	3756	KCNH1	OMIM:135500
HP:0002186	Apraxia	114034	TOE1	OMIM:614969
HP:0002186	Apraxia	5190	PEX6	ORPHA:95433
HP:0002186	Apraxia	4361	MRE11	OMIM:604391
HP:0002186	Apraxia	4361	MRE11	ORPHA:251347
HP:0002186	Apraxia	10939	AFG3L2	ORPHA:313772
HP:0002186	Apraxia	10939	AFG3L2	OMIM:614487
HP:0002186	Apraxia	23116	TOGARAM1	OMIM:619185
HP:0002186	Apraxia	23116	TOGARAM1	ORPHA:475
HP:0002186	Apraxia	23203	PMPCA	ORPHA:1170
HP:0002186	Apraxia	80173	IFT74	OMIM:619582
HP:0002186	Apraxia	84314	TMEM107	OMIM:617563
HP:0002186	Apraxia	84314	TMEM107	OMIM:617562
HP:0002186	Apraxia	5147	PDE6D	OMIM:615665
HP:0002186	Apraxia	57545	CC2D2A	ORPHA:1454
HP:0002186	Apraxia	57545	CC2D2A	OMIM:612285
HP:0002186	Apraxia	57545	CC2D2A	OMIM:619111
HP:0002186	Apraxia	79583	TMEM231	OMIM:614970
HP:0002186	Apraxia	79583	TMEM231	ORPHA:2752
HP:0002186	Apraxia	1200	TPP1	OMIM:609270
HP:0002186	Apraxia	1200	TPP1	ORPHA:284324
HP:0002186	Apraxia	54840	APTX	OMIM:208920
HP:0002186	Apraxia	10382	TUBB4A	OMIM:612438
HP:0002186	Apraxia	65250	CPLANE1	OMIM:614615
HP:0002186	Apraxia	65250	CPLANE1	ORPHA:475
HP:0002186	Apraxia	6697	SPR	OMIM:612716
HP:0002186	Apraxia	5192	PEX10	ORPHA:247815
HP:0002186	Apraxia	79600	TCTN1	ORPHA:475
HP:0002186	Apraxia	51684	SUFU	ORPHA:475
HP:0002186	Apraxia	51684	SUFU	OMIM:617757
HP:0002186	Apraxia	200894	ARL13B	ORPHA:475
HP:0002186	Apraxia	200894	ARL13B	OMIM:612291
HP:0002186	Apraxia	9731	CEP104	ORPHA:475
HP:0002186	Apraxia	9731	CEP104	OMIM:616781
HP:0002186	Apraxia	219844	HYLS1	ORPHA:475
HP:0002186	Apraxia	23247	KATNIP	ORPHA:475
HP:0002186	Apraxia	79867	TCTN2	ORPHA:475
HP:0002186	Apraxia	80776	B9D2	ORPHA:475
HP:0002186	Apraxia	10464	PIBF1	ORPHA:475
HP:0002186	Apraxia	10464	PIBF1	OMIM:617767
HP:0002186	Apraxia	80210	ARMC9	ORPHA:475
HP:0002186	Apraxia	25776	CBY1	ORPHA:475
HP:0002186	Apraxia	27077	B9D1	ORPHA:475
HP:0002186	Apraxia	27077	B9D1	OMIM:617120
HP:0002186	Apraxia	403	ARL3	ORPHA:475
HP:0002186	Apraxia	403	ARL3	OMIM:618161
HP:0002186	Apraxia	9851	KIAA0753	OMIM:619476
HP:0002186	Apraxia	8363	H4C11	OMIM:619759
HP:0002186	Apraxia	55280	CWF19L1	OMIM:616127
HP:0002186	Apraxia	55280	CWF19L1	ORPHA:453521
HP:0002186	Apraxia	23533	PIK3R5	ORPHA:64753
HP:0002186	Apraxia	23533	PIK3R5	OMIM:615217
HP:0002186	Apraxia	23064	SETX	ORPHA:64753
HP:0002186	Apraxia	23064	SETX	OMIM:606002
HP:0002186	Apraxia	51524	TMEM138	OMIM:614465
HP:0002186	Apraxia	5828	PEX2	OMIM:614867
HP:0002186	Apraxia	773	CACNA1A	ORPHA:2131
HP:0002186	Apraxia	6507	SLC1A3	ORPHA:2131
HP:0002186	Apraxia	478	ATP1A3	ORPHA:2131
HP:0002186	Apraxia	22983	MAST1	OMIM:618273
HP:0002186	Apraxia	79152	FA2H	ORPHA:171629
HP:0002186	Apraxia	284217	LAMA1	OMIM:615960
HP:0002186	Apraxia	284217	LAMA1	ORPHA:370022
HP:0002186	Apraxia	2629	GBA1	ORPHA:2072
HP:0002186	Apraxia	2629	GBA1	OMIM:230900
HP:0002186	Apraxia	10463	SLC30A9	OMIM:617595
HP:0002186	Apraxia	7515	XRCC1	OMIM:617633
HP:0002186	Apraxia	87178	PNPT1	OMIM:608703
HP:0002186	Apraxia	8398	PLA2G6	ORPHA:199351
HP:0002186	Apraxia	8398	PLA2G6	OMIM:612953
HP:0002186	Apraxia	8867	SYNJ1	OMIM:615530
HP:0002186	Apraxia	23400	ATP13A2	ORPHA:306674
HP:0002186	Apraxia	80025	PANK2	OMIM:234200
HP:0002186	Apraxia	51324	SPG21	OMIM:248900
HP:0002186	Apraxia	51324	SPG21	ORPHA:101001
HP:0002186	Apraxia	7337	UBE3A	ORPHA:238446
HP:0002186	Apraxia	5621	PRNP	OMIM:137440
HP:0002186	Apraxia	1436	CSF1R	OMIM:221820
HP:0002186	Apraxia	4204	MECP2	OMIM:300055
HP:0002186	Apraxia	4204	MECP2	ORPHA:3095
HP:0002186	Apraxia	348	APOE	OMIM:607822
HP:0002186	Apraxia	348	APOE	OMIM:606889
HP:0002186	Apraxia	5663	PSEN1	OMIM:607822
HP:0002186	Apraxia	5663	PSEN1	ORPHA:1020
HP:0002186	Apraxia	5663	PSEN1	ORPHA:100070
HP:0002186	Apraxia	6609	SMPD1	ORPHA:77293
HP:0002186	Apraxia	7143	TNR	OMIM:619653
HP:0002186	Apraxia	7518	XRCC4	OMIM:616541
HP:0002186	Apraxia	55906	ZC4H2	OMIM:314580
HP:0002186	Apraxia	11277	TREX1	OMIM:192315
HP:0002186	Apraxia	215	ABCD1	ORPHA:139396
HP:0002186	Apraxia	8733	GPAA1	OMIM:617810
HP:0002186	Apraxia	54902	TTC19	OMIM:615157
HP:0002186	Apraxia	7874	USP7	OMIM:616863
HP:0002186	Apraxia	2290	FOXG1	OMIM:613454
HP:0002186	Apraxia	5664	PSEN2	ORPHA:1020
HP:0002186	Apraxia	5664	PSEN2	OMIM:606889
HP:0002186	Apraxia	10452	TOMM40	ORPHA:1020
HP:0002186	Apraxia	351	APP	ORPHA:1020
HP:0002186	Apraxia	54209	TREM2	ORPHA:1020
HP:0002186	Apraxia	54209	TREM2	OMIM:618193
HP:0002186	Apraxia	54209	TREM2	ORPHA:100070
HP:0002186	Apraxia	10347	ABCA7	ORPHA:1020
HP:0002186	Apraxia	6653	SORL1	ORPHA:1020
HP:0002186	Apraxia	2521	FUS	ORPHA:275872
HP:0002186	Apraxia	8878	SQSTM1	ORPHA:275872
HP:0002186	Apraxia	7415	VCP	ORPHA:275872
HP:0002186	Apraxia	7415	VCP	ORPHA:100070
HP:0002186	Apraxia	23435	TARDBP	ORPHA:275872
HP:0002186	Apraxia	29110	TBK1	ORPHA:275872
HP:0002186	Apraxia	400916	CHCHD10	ORPHA:275872
HP:0002186	Apraxia	7080	NKX2-1	ORPHA:209905
HP:0002186	Apraxia	10159	ATP6AP2	ORPHA:93952
HP:0002186	Apraxia	10159	ATP6AP2	OMIM:300423
HP:0002186	Apraxia	203228	C9orf72	OMIM:105550
HP:0002186	Apraxia	2896	GRN	OMIM:607485
HP:0002186	Apraxia	2896	GRN	ORPHA:100070
HP:0002186	Apraxia	10093	ARPC4	OMIM:620141
HP:0002186	Apraxia	1678	TIMM8A	ORPHA:52368
HP:0002186	Apraxia	6792	CDKL5	ORPHA:3095
HP:0002186	Apraxia	22854	NTNG1	ORPHA:3095
HP:0002186	Apraxia	9568	GABBR2	ORPHA:3095
HP:0002186	Apraxia	8243	SMC1A	ORPHA:3095
HP:0002186	Apraxia	7305	TYROBP	OMIM:221770
HP:0002186	Apraxia	57231	SNX14	OMIM:616354
HP:0002186	Apraxia	57231	SNX14	ORPHA:397709
HP:0002186	Apraxia	7957	EPM2A	OMIM:254780
HP:0002186	Apraxia	378884	NHLRC1	OMIM:254780
HP:0002186	Apraxia	57505	AARS2	OMIM:615889
HP:0002186	Apraxia	4137	MAPT	ORPHA:240103
HP:0002186	Apraxia	4137	MAPT	ORPHA:100070
HP:0002186	Apraxia	4884	NPTX1	OMIM:620158
HP:0002186	Apraxia	6908	TBP	OMIM:607136
HP:0002186	Apraxia	3767	KCNJ11	ORPHA:99885
HP:0002186	Apraxia	6774	STAT3	ORPHA:99885
HP:0002186	Apraxia	2645	GCK	ORPHA:99885
HP:0002186	Apraxia	3651	PDX1	ORPHA:99885
HP:0002186	Apraxia	6833	ABCC8	ORPHA:99885
HP:0002186	Apraxia	3630	INS	ORPHA:99885
HP:0002186	Apraxia	477	ATP1A2	OMIM:602481
HP:0002186	Apraxia	25978	CHMP2B	ORPHA:100070
HP:0002186	Apraxia	54664	TMEM106B	ORPHA:100070
HP:0002186	Apraxia	6513	SLC2A1	ORPHA:71277
HP:0002186	Apraxia	1213	CLTC	OMIM:617854
HP:0002186	Apraxia	2260	FGFR1	ORPHA:220386
HP:0002186	Apraxia	2260	FGFR1	ORPHA:93924
HP:0002186	Apraxia	28514	DLL1	ORPHA:220386
HP:0002186	Apraxia	28514	DLL1	ORPHA:93926
HP:0002186	Apraxia	28514	DLL1	ORPHA:93924
HP:0002186	Apraxia	28514	DLL1	ORPHA:93925
HP:0002186	Apraxia	10735	STAG2	ORPHA:220386
HP:0002186	Apraxia	10735	STAG2	ORPHA:93925
HP:0002186	Apraxia	2253	FGF8	ORPHA:220386
HP:0002186	Apraxia	2253	FGF8	ORPHA:93926
HP:0002186	Apraxia	2253	FGF8	ORPHA:93924
HP:0002186	Apraxia	2253	FGF8	ORPHA:93925
HP:0002186	Apraxia	6496	SIX3	ORPHA:220386
HP:0002186	Apraxia	6496	SIX3	ORPHA:93926
HP:0002186	Apraxia	6496	SIX3	ORPHA:93924
HP:0002186	Apraxia	6496	SIX3	ORPHA:93925
HP:0002186	Apraxia	7050	TGIF1	ORPHA:220386
HP:0002186	Apraxia	7050	TGIF1	ORPHA:93926
HP:0002186	Apraxia	7050	TGIF1	ORPHA:93924
HP:0002186	Apraxia	7050	TGIF1	ORPHA:93925
HP:0002186	Apraxia	4838	NODAL	ORPHA:220386
HP:0002186	Apraxia	4838	NODAL	ORPHA:93926
HP:0002186	Apraxia	4838	NODAL	ORPHA:93924
HP:0002186	Apraxia	4838	NODAL	ORPHA:93925
HP:0002186	Apraxia	6469	SHH	ORPHA:220386
HP:0002186	Apraxia	6469	SHH	ORPHA:93926
HP:0002186	Apraxia	6469	SHH	ORPHA:93924
HP:0002186	Apraxia	6469	SHH	ORPHA:93925
HP:0002186	Apraxia	7546	ZIC2	ORPHA:220386
HP:0002186	Apraxia	7546	ZIC2	ORPHA:93926
HP:0002186	Apraxia	7546	ZIC2	ORPHA:93924
HP:0002186	Apraxia	7546	ZIC2	ORPHA:93925
HP:0002186	Apraxia	6491	STIL	ORPHA:220386
HP:0002186	Apraxia	6491	STIL	ORPHA:93926
HP:0002186	Apraxia	6491	STIL	ORPHA:93924
HP:0002186	Apraxia	6491	STIL	ORPHA:93925
HP:0002186	Apraxia	2619	GAS1	ORPHA:220386
HP:0002186	Apraxia	2619	GAS1	ORPHA:93926
HP:0002186	Apraxia	2619	GAS1	ORPHA:93924
HP:0002186	Apraxia	2619	GAS1	ORPHA:93925
HP:0002186	Apraxia	84976	DISP1	ORPHA:220386
HP:0002186	Apraxia	84976	DISP1	ORPHA:93926
HP:0002186	Apraxia	84976	DISP1	ORPHA:93924
HP:0002186	Apraxia	84976	DISP1	ORPHA:93925
HP:0002186	Apraxia	2736	GLI2	ORPHA:220386
HP:0002186	Apraxia	2736	GLI2	ORPHA:93926
HP:0002186	Apraxia	2736	GLI2	ORPHA:93924
HP:0002186	Apraxia	2736	GLI2	ORPHA:93925
HP:0002186	Apraxia	8928	FOXH1	ORPHA:220386
HP:0002186	Apraxia	8928	FOXH1	ORPHA:93926
HP:0002186	Apraxia	8928	FOXH1	ORPHA:93924
HP:0002186	Apraxia	8928	FOXH1	ORPHA:93925
HP:0002186	Apraxia	5727	PTCH1	ORPHA:220386
HP:0002186	Apraxia	5727	PTCH1	ORPHA:93926
HP:0002186	Apraxia	5727	PTCH1	ORPHA:93924
HP:0002186	Apraxia	5727	PTCH1	ORPHA:93925
HP:0002186	Apraxia	50937	CDON	ORPHA:220386
HP:0002186	Apraxia	50937	CDON	ORPHA:93926
HP:0002186	Apraxia	50937	CDON	ORPHA:93924
HP:0002186	Apraxia	50937	CDON	ORPHA:93925
HP:0002186	Apraxia	55823	VPS11	ORPHA:466934
HP:0002186	Apraxia	1650	DDOST	ORPHA:300536
HP:0002186	Apraxia	23007	PLCH1	ORPHA:93925
HP:0002186	Apraxia	9289	ADGRG1	ORPHA:98889
HP:0002186	Apraxia	5297	PI4KA	ORPHA:98889
HP:0002186	Apraxia	5654	HTRA1	OMIM:600142
HP:0002186	Apraxia	10730	YME1L1	OMIM:617302
HP:0002186	Apraxia	2592	GALT	ORPHA:79239
HP:0002186	Apraxia	4841	NONO	ORPHA:466791
HP:0002186	Apraxia	4841	NONO	OMIM:300967
HP:0002186	Apraxia	6535	SLC6A8	OMIM:300352
HP:0002186	Apraxia	253738	EBF3	OMIM:617330
HP:0002186	Apraxia	2903	GRIN2A	OMIM:245570
HP:0002186	Apraxia	2903	GRIN2A	ORPHA:163721
HP:0002186	Apraxia	2903	GRIN2A	ORPHA:725
HP:0002186	Apraxia	2903	GRIN2A	ORPHA:98818
HP:0002186	Apraxia	284058	KANSL1	ORPHA:363958
HP:0002186	Apraxia	284058	KANSL1	ORPHA:363965
HP:0002186	Apraxia	5728	PTEN	OMIM:605309
HP:0002186	Apraxia	5457	POU4F1	OMIM:619352
HP:0002186	Apraxia	27086	FOXP1	OMIM:613670
HP:0002186	Apraxia	23135	KDM6B	OMIM:618505
HP:0002186	Apraxia	27286	SRPX2	ORPHA:163721
HP:0002186	Apraxia	27286	SRPX2	OMIM:300643
HP:0002186	Apraxia	10273	STUB1	ORPHA:412057
HP:0002186	Apraxia	60684	TRAPPC11	OMIM:615356
HP:0002186	Apraxia	93986	FOXP2	ORPHA:209908
HP:0002186	Apraxia	84282	RNF135	ORPHA:137634
HP:0002186	Apraxia	1107	CHD3	OMIM:618205
HP:0002186	Apraxia	9969	MED13	OMIM:618009
HP:0002186	Apraxia	23732	FRRS1L	ORPHA:725
HP:0002186	Apraxia	1737	DLAT	ORPHA:79244
HP:0002186	Apraxia	5575	PRKAR1B	OMIM:619680
HP:0002186	Apraxia	23111	SPART	ORPHA:101000
HP:0002186	Apraxia	1105	CHD1	OMIM:617682
HP:0002186	Apraxia	1105	CHD1	ORPHA:529965
HP:0002186	Apraxia	25970	SH2B1	ORPHA:261197
HP:0002186	Apraxia	1760	DMPK	ORPHA:589821
HP:0002186	Apraxia	55690	PACS1	OMIM:615009
HP:0002186	Apraxia	10847	SRCAP	ORPHA:2044
HP:0002186	Apraxia	10743	RAI1	ORPHA:1713
HP:0002186	Apraxia	5813	PURA	ORPHA:314655
HP:0002186	Apraxia	10166	SLC25A15	ORPHA:415
HP:0002186	Apraxia	2584	GALK1	ORPHA:79237
HP:0002186	Apraxia	5354	PLP1	ORPHA:280229
HP:0002187	Intellectual disability, profound	57526	PCDH19	ORPHA:101039
HP:0002187	Intellectual disability, profound	2261	FGFR3	OMIM:187600
HP:0002187	Intellectual disability, profound	2261	FGFR3	ORPHA:1860
HP:0002187	Intellectual disability, profound	2261	FGFR3	OMIM:616482
HP:0002187	Intellectual disability, profound	3763	KCNJ6	ORPHA:435628
HP:0002187	Intellectual disability, profound	51399	TRAPPC4	OMIM:618741
HP:0002187	Intellectual disability, profound	64116	SLC39A8	OMIM:616721
HP:0002187	Intellectual disability, profound	64116	SLC39A8	ORPHA:468699
HP:0002187	Intellectual disability, profound	7360	UGP2	OMIM:618744
HP:0002187	Intellectual disability, profound	55746	NUP133	OMIM:618349
HP:0002187	Intellectual disability, profound	6323	SCN1A	OMIM:619317
HP:0002187	Intellectual disability, profound	26040	SETBP1	ORPHA:436151
HP:0002187	Intellectual disability, profound	53616	ADAM22	OMIM:617933
HP:0002187	Intellectual disability, profound	55624	POMGNT1	OMIM:253280
HP:0002187	Intellectual disability, profound	781	CACNA2D1	OMIM:620149
HP:0002187	Intellectual disability, profound	64220	STRA6	OMIM:601186
HP:0002187	Intellectual disability, profound	128869	PIGU	OMIM:618590
HP:0002187	Intellectual disability, profound	5631	PRPS1	ORPHA:423479
HP:0002187	Intellectual disability, profound	1193	CLIC2	OMIM:300886
HP:0002187	Intellectual disability, profound	1193	CLIC2	ORPHA:324410
HP:0002187	Intellectual disability, profound	11277	TREX1	OMIM:225750
HP:0002187	Intellectual disability, profound	11277	TREX1	ORPHA:51
HP:0002187	Intellectual disability, profound	64801	ARV1	OMIM:617020
HP:0002187	Intellectual disability, profound	8867	SYNJ1	OMIM:617389
HP:0002187	Intellectual disability, profound	6487	ST3GAL3	OMIM:615006
HP:0002187	Intellectual disability, profound	112939	NACC1	ORPHA:500545
HP:0002187	Intellectual disability, profound	6334	SCN8A	OMIM:614558
HP:0002187	Intellectual disability, profound	55768	NGLY1	ORPHA:404454
HP:0002187	Intellectual disability, profound	63908	NAPB	OMIM:620033
HP:0002187	Intellectual disability, profound	29954	POMT2	OMIM:236670
HP:0002187	Intellectual disability, profound	29954	POMT2	OMIM:613150
HP:0002187	Intellectual disability, profound	9215	LARGE1	OMIM:236670
HP:0002187	Intellectual disability, profound	9215	LARGE1	OMIM:608840
HP:0002187	Intellectual disability, profound	79147	FKRP	OMIM:236670
HP:0002187	Intellectual disability, profound	79147	FKRP	OMIM:613153
HP:0002187	Intellectual disability, profound	10585	POMT1	OMIM:236670
HP:0002187	Intellectual disability, profound	2218	FKTN	OMIM:236670
HP:0002187	Intellectual disability, profound	6904	TBCD	ORPHA:496641
HP:0002187	Intellectual disability, profound	56915	EXOSC5	OMIM:619576
HP:0002187	Intellectual disability, profound	7343	UBTF	OMIM:617672
HP:0002187	Intellectual disability, profound	7343	UBTF	ORPHA:500180
HP:0002187	Intellectual disability, profound	6709	SPTAN1	OMIM:613477
HP:0002187	Intellectual disability, profound	7965	AIMP2	OMIM:618006
HP:0002187	Intellectual disability, profound	23325	WASHC4	OMIM:615817
HP:0002187	Intellectual disability, profound	9361	LONP1	ORPHA:79243
HP:0002187	Intellectual disability, profound	5160	PDHA1	ORPHA:79243
HP:0002187	Intellectual disability, profound	83480	PUS3	ORPHA:488627
HP:0002187	Intellectual disability, profound	83480	PUS3	OMIM:617051
HP:0002187	Intellectual disability, profound	171023	ASXL1	ORPHA:97297
HP:0002187	Intellectual disability, profound	171023	ASXL1	OMIM:605039
HP:0002187	Intellectual disability, profound	11342	RNF13	OMIM:618379
HP:0002187	Intellectual disability, profound	11342	RNF13	ORPHA:544503
HP:0002187	Intellectual disability, profound	4905	NSF	OMIM:619340
HP:0002187	Intellectual disability, profound	54681	P4HTM	OMIM:618493
HP:0002187	Intellectual disability, profound	2257	FGF12	OMIM:617166
HP:0002187	Intellectual disability, profound	128637	TBC1D20	OMIM:615663
HP:0002187	Intellectual disability, profound	10352	WARS2	ORPHA:572798
HP:0002187	Intellectual disability, profound	6785	ELOVL4	OMIM:614457
HP:0002187	Intellectual disability, profound	54872	PIGG	OMIM:616917
HP:0002187	Intellectual disability, profound	2074	ERCC6	OMIM:214150
HP:0002187	Intellectual disability, profound	6611	SMS	ORPHA:3063
HP:0002187	Intellectual disability, profound	6792	CDKL5	OMIM:300672
HP:0002187	Intellectual disability, profound	23312	DMXL2	OMIM:618663
HP:0002187	Intellectual disability, profound	6812	STXBP1	OMIM:612164
HP:0002187	Intellectual disability, profound	7737	RNF113A	OMIM:300953
HP:0002187	Intellectual disability, profound	22931	RAB18	OMIM:614222
HP:0002187	Intellectual disability, profound	285175	UNC80	OMIM:616801
HP:0002187	Intellectual disability, profound	51091	SEPSECS	OMIM:613811
HP:0002187	Intellectual disability, profound	56270	WDR45B	OMIM:617977
HP:0002187	Intellectual disability, profound	51611	DPH5	OMIM:620070
HP:0002187	Intellectual disability, profound	8905	AP1S2	ORPHA:85329
HP:0002187	Intellectual disability, profound	8905	AP1S2	OMIM:304340
HP:0002187	Intellectual disability, profound	2571	GAD1	OMIM:619124
HP:0002187	Intellectual disability, profound	60558	GUF1	OMIM:617065
HP:0002187	Intellectual disability, profound	51124	IER3IP1	OMIM:614231
HP:0002187	Intellectual disability, profound	9326	ZNHIT3	OMIM:260565
HP:0002187	Intellectual disability, profound	23067	SETD1B	OMIM:619000
HP:0002187	Intellectual disability, profound	1806	DPYD	ORPHA:1675
HP:0002187	Intellectual disability, profound	6506	SLC1A2	OMIM:617105
HP:0002187	Intellectual disability, profound	55704	CCDC88A	OMIM:617507
HP:0002187	Intellectual disability, profound	100506658	OCLN	OMIM:251290
HP:0002187	Intellectual disability, profound	471	ATIC	OMIM:608688
HP:0002187	Intellectual disability, profound	23065	EMC1	ORPHA:480898
HP:0002187	Intellectual disability, profound	2271	FH	OMIM:606812
HP:0002187	Intellectual disability, profound	5296	PIK3R2	OMIM:603387
HP:0002187	Intellectual disability, profound	23545	ATP6V0A2	ORPHA:357074
HP:0002187	Intellectual disability, profound	523	ATP6V1A	ORPHA:357074
HP:0002187	Intellectual disability, profound	529	ATP6V1E1	ORPHA:357074
HP:0002187	Intellectual disability, profound	3423	IDS	OMIM:309900
HP:0002187	Intellectual disability, profound	10479	SLC9A6	ORPHA:85278
HP:0002187	Intellectual disability, profound	729920	CRPPA	OMIM:614643
HP:0002187	Intellectual disability, profound	51227	PIGP	OMIM:617599
HP:0002187	Intellectual disability, profound	55275	VPS53	OMIM:615851
HP:0002187	Intellectual disability, profound	8481	OFD1	OMIM:300804
HP:0002187	Intellectual disability, profound	51294	PCDH12	OMIM:251280
HP:0002187	Intellectual disability, profound	9439	MED23	OMIM:614249
HP:0002187	Intellectual disability, profound	5048	PAFAH1B1	ORPHA:95232
HP:0002187	Intellectual disability, profound	701	BUB1B	OMIM:257300
HP:0002187	Intellectual disability, profound	6567	SLC16A2	ORPHA:59
HP:0002187	Intellectual disability, profound	23102	TBC1D2B	ORPHA:397973
HP:0002187	Intellectual disability, profound	58497	PRUNE1	OMIM:617481
HP:0002187	Intellectual disability, profound	54344	DPM3	ORPHA:263494
HP:0002187	Intellectual disability, profound	84188	FAR1	OMIM:616154
HP:0002187	Intellectual disability, profound	3329	HSPD1	OMIM:612233
HP:0002187	Intellectual disability, profound	54820	NDE1	OMIM:614019
HP:0002187	Intellectual disability, profound	7407	VARS1	OMIM:617802
HP:0002187	Intellectual disability, profound	4204	MECP2	OMIM:312750
HP:0002187	Intellectual disability, profound	10695	CNPY3	OMIM:617929
HP:0002187	Intellectual disability, profound	10535	RNASEH2A	ORPHA:51
HP:0002187	Intellectual disability, profound	84153	RNASEH2C	ORPHA:51
HP:0002187	Intellectual disability, profound	25939	SAMHD1	ORPHA:51
HP:0002187	Intellectual disability, profound	79621	RNASEH2B	ORPHA:51
HP:0002187	Intellectual disability, profound	103	ADAR	ORPHA:51
HP:0002187	Intellectual disability, profound	100147744	RNU7-1	ORPHA:51
HP:0002187	Intellectual disability, profound	134353	LSM11	ORPHA:51
HP:0002187	Intellectual disability, profound	64135	IFIH1	ORPHA:51
HP:0002187	Intellectual disability, profound	2902	GRIN1	ORPHA:208447
HP:0002187	Intellectual disability, profound	80816	ASXL3	ORPHA:352577
HP:0002188	Delayed CNS myelination	199857	ALG14	OMIM:619031
HP:0002188	Delayed CNS myelination	199857	ALG14	OMIM:619036
HP:0002188	Delayed CNS myelination	9131	AIFM1	OMIM:300232
HP:0002188	Delayed CNS myelination	26235	FBXL4	OMIM:615471
HP:0002188	Delayed CNS myelination	8367	H4C5	OMIM:619950
HP:0002188	Delayed CNS myelination	104	ADARB1	OMIM:618862
HP:0002188	Delayed CNS myelination	375	ARF1	OMIM:618185
HP:0002188	Delayed CNS myelination	2775	GNAO1	OMIM:615473
HP:0002188	Delayed CNS myelination	2775	GNAO1	OMIM:617493
HP:0002188	Delayed CNS myelination	6873	TAF2	OMIM:615599
HP:0002188	Delayed CNS myelination	10059	DNM1L	OMIM:614388
HP:0002188	Delayed CNS myelination	55823	VPS11	ORPHA:466934
HP:0002188	Delayed CNS myelination	23417	MLYCD	OMIM:248360
HP:0002188	Delayed CNS myelination	4897	NRCAM	OMIM:619833
HP:0002188	Delayed CNS myelination	347734	SLC35B2	OMIM:620269
HP:0002188	Delayed CNS myelination	81570	CLPB	OMIM:619835
HP:0002188	Delayed CNS myelination	51343	FZR1	OMIM:620145
HP:0002188	Delayed CNS myelination	23126	POGZ	ORPHA:468678
HP:0002188	Delayed CNS myelination	23126	POGZ	OMIM:616364
HP:0002188	Delayed CNS myelination	51506	UFC1	OMIM:618076
HP:0002188	Delayed CNS myelination	283489	CHAMP1	OMIM:616579
HP:0002188	Delayed CNS myelination	387787	LIPT2	OMIM:617668
HP:0002188	Delayed CNS myelination	57465	TBC1D24	ORPHA:352596
HP:0002188	Delayed CNS myelination	4010	LMX1B	ORPHA:495818
HP:0002188	Delayed CNS myelination	6812	STXBP1	ORPHA:495818
HP:0002188	Delayed CNS myelination	6812	STXBP1	OMIM:612164
HP:0002188	Delayed CNS myelination	478	ATP1A3	OMIM:619606
HP:0002188	Delayed CNS myelination	166378	AFG2A	OMIM:616577
HP:0002188	Delayed CNS myelination	65082	VPS33A	OMIM:617303
HP:0002188	Delayed CNS myelination	10730	YME1L1	OMIM:617302
HP:0002188	Delayed CNS myelination	375387	NRROS	OMIM:618875
HP:0002188	Delayed CNS myelination	80055	PGAP1	OMIM:615802
HP:0002188	Delayed CNS myelination	5610	EIF2AK2	OMIM:618877
HP:0002188	Delayed CNS myelination	3781	KCNN2	OMIM:619725
HP:0002188	Delayed CNS myelination	9915	ARNT2	OMIM:615926
HP:0002188	Delayed CNS myelination	57582	KCNT1	OMIM:614959
HP:0002188	Delayed CNS myelination	79693	YRDC	OMIM:619609
HP:0002188	Delayed CNS myelination	57492	ARID1B	OMIM:135900
HP:0002188	Delayed CNS myelination	55870	ASH1L	OMIM:617796
HP:0002188	Delayed CNS myelination	6884	TAF13	OMIM:617432
HP:0002188	Delayed CNS myelination	7528	YY1	OMIM:617557
HP:0002188	Delayed CNS myelination	5191	PEX7	OMIM:215100
HP:0002188	Delayed CNS myelination	501	ALDH7A1	ORPHA:3006
HP:0002188	Delayed CNS myelination	11212	PLPBP	ORPHA:3006
HP:0002188	Delayed CNS myelination	652	BMP4	OMIM:607932
HP:0002188	Delayed CNS myelination	1656	DDX6	OMIM:618653
HP:0002188	Delayed CNS myelination	55703	POLR3B	OMIM:619742
HP:0002188	Delayed CNS myelination	497661	C18orf32	OMIM:619985
HP:0002188	Delayed CNS myelination	23327	NEDD4L	OMIM:617201
HP:0002188	Delayed CNS myelination	132158	GLYCTK	OMIM:220120
HP:0002188	Delayed CNS myelination	833	CARS1	OMIM:618891
HP:0002188	Delayed CNS myelination	57178	ZMIZ1	OMIM:618659
HP:0002188	Delayed CNS myelination	2783	GNB2	OMIM:619503
HP:0002188	Delayed CNS myelination	25942	SIN3A	OMIM:613406
HP:0002188	Delayed CNS myelination	7915	ALDH5A1	OMIM:271980
HP:0002188	Delayed CNS myelination	27245	AHDC1	OMIM:615829
HP:0002188	Delayed CNS myelination	1499	CTNNB1	ORPHA:404473
HP:0002188	Delayed CNS myelination	9653	HS2ST1	OMIM:619194
HP:0002188	Delayed CNS myelination	5518	PPP2R1A	OMIM:616362
HP:0002188	Delayed CNS myelination	1186	CLCN7	OMIM:618541
HP:0002188	Delayed CNS myelination	55768	NGLY1	OMIM:615273
HP:0002188	Delayed CNS myelination	1182	CLCN3	OMIM:619512
HP:0002188	Delayed CNS myelination	1182	CLCN3	OMIM:619517
HP:0002188	Delayed CNS myelination	149371	EXOC8	OMIM:619076
HP:0002188	Delayed CNS myelination	54914	FOCAD	OMIM:619991
HP:0002188	Delayed CNS myelination	56006	SMG9	OMIM:616920
HP:0002188	Delayed CNS myelination	116115	ZNF526	OMIM:619877
HP:0002188	Delayed CNS myelination	4191	MDH2	OMIM:617339
HP:0002188	Delayed CNS myelination	83475	DOHH	OMIM:620066
HP:0002188	Delayed CNS myelination	6609	SMPD1	OMIM:257200
HP:0002188	Delayed CNS myelination	728294	D2HGDH	OMIM:600721
HP:0002188	Delayed CNS myelination	9276	COPB2	OMIM:619884
HP:0002188	Delayed CNS myelination	9276	COPB2	OMIM:617800
HP:0002188	Delayed CNS myelination	7358	UGDH	OMIM:618792
HP:0002188	Delayed CNS myelination	113179	ADAT3	OMIM:615286
HP:0002188	Delayed CNS myelination	4849	CNOT3	OMIM:618672
HP:0002188	Delayed CNS myelination	6506	SLC1A2	OMIM:617105
HP:0002188	Delayed CNS myelination	9440	MED17	OMIM:613668
HP:0002188	Delayed CNS myelination	25828	TXN2	OMIM:616811
HP:0002188	Delayed CNS myelination	10430	TMEM147	OMIM:620075
HP:0002188	Delayed CNS myelination	22880	MORC2	OMIM:619090
HP:0002188	Delayed CNS myelination	4677	NARS1	OMIM:619091
HP:0002188	Delayed CNS myelination	7143	TNR	OMIM:619653
HP:0002188	Delayed CNS myelination	7355	SLC35A2	OMIM:300896
HP:0002188	Delayed CNS myelination	55120	FANCL	OMIM:614083
HP:0002188	Delayed CNS myelination	197258	FCSK	OMIM:618324
HP:0002188	Delayed CNS myelination	85365	ALG2	OMIM:607906
HP:0002188	Delayed CNS myelination	3798	KIF5A	OMIM:617235
HP:0002188	Delayed CNS myelination	27086	FOXP1	OMIM:613670
HP:0002188	Delayed CNS myelination	8218	CLTCL1	ORPHA:453510
HP:0002188	Delayed CNS myelination	9725	TMEM63A	OMIM:618688
HP:0002188	Delayed CNS myelination	23219	FBXO28	OMIM:619777
HP:0002188	Delayed CNS myelination	50628	GEMIN4	OMIM:617913
HP:0002188	Delayed CNS myelination	2146	EZH2	OMIM:277590
HP:0002188	Delayed CNS myelination	84978	FRMD5	OMIM:620094
HP:0002188	Delayed CNS myelination	404672	GTF2H5	OMIM:616395
HP:0002188	Delayed CNS myelination	51645	PPIL1	OMIM:619301
HP:0002188	Delayed CNS myelination	8295	TRRAP	OMIM:618454
HP:0002188	Delayed CNS myelination	10159	ATP6AP2	OMIM:300423
HP:0002188	Delayed CNS myelination	7040	TGFB1	OMIM:618213
HP:0002188	Delayed CNS myelination	51362	CDC40	OMIM:619302
HP:0002188	Delayed CNS myelination	58497	PRUNE1	OMIM:617481
HP:0002188	Delayed CNS myelination	51693	TRAPPC2L	OMIM:618331
HP:0002188	Delayed CNS myelination	84188	FAR1	OMIM:616154
HP:0002188	Delayed CNS myelination	5813	PURA	OMIM:616158
HP:0002188	Delayed CNS myelination	22907	DHX30	OMIM:617804
HP:0002188	Delayed CNS myelination	51013	EXOSC1	OMIM:619304
HP:0002188	Delayed CNS myelination	2744	GLS	OMIM:618339
HP:0002188	Delayed CNS myelination	81603	TRIM8	OMIM:619428
HP:0002188	Delayed CNS myelination	339453	TMEM240	OMIM:607454
HP:0002188	Delayed CNS myelination	9230	RAB11B	OMIM:617807
HP:0002188	Delayed CNS myelination	55906	ZC4H2	OMIM:301041
HP:0002188	Delayed CNS myelination	79876	UBA5	OMIM:617132
HP:0002188	Delayed CNS myelination	30000	TNPO2	OMIM:619556
HP:0002188	Delayed CNS myelination	2187	FANCB	OMIM:300514
HP:0002188	Delayed CNS myelination	51412	ACTL6B	OMIM:618468
HP:0002188	Delayed CNS myelination	55746	NUP133	OMIM:618349
HP:0002188	Delayed CNS myelination	85358	SHANK3	OMIM:606232
HP:0002188	Delayed CNS myelination	79796	ALG9	OMIM:608776
HP:0002188	Delayed CNS myelination	23028	KDM1A	OMIM:616728
HP:0002188	Delayed CNS myelination	170302	ARX	OMIM:308350
HP:0002188	Delayed CNS myelination	128869	PIGU	OMIM:618590
HP:0002188	Delayed CNS myelination	7707	ZNF148	OMIM:617260
HP:0002188	Delayed CNS myelination	5515	PPP2CA	OMIM:618354
HP:0002188	Delayed CNS myelination	6567	SLC16A2	OMIM:300523
HP:0002188	Delayed CNS myelination	79868	ALG13	OMIM:300884
HP:0002188	Delayed CNS myelination	51601	LIPT1	OMIM:616299
HP:0002188	Delayed CNS myelination	473	RERE	OMIM:616975
HP:0002188	Delayed CNS myelination	6513	SLC2A1	OMIM:608885
HP:0002188	Delayed CNS myelination	23097	CDK19	OMIM:618916
HP:0002188	Delayed CNS myelination	16	AARS1	OMIM:619691
HP:0002188	Delayed CNS myelination	10588	MTHFS	OMIM:618367
HP:0002188	Delayed CNS myelination	23221	RHOBTB2	OMIM:618004
HP:0002188	Delayed CNS myelination	63925	ZNF335	OMIM:615095
HP:0002188	Delayed CNS myelination	22930	RAB3GAP1	OMIM:600118
HP:0002188	Delayed CNS myelination	112939	NACC1	OMIM:617393
HP:0002188	Delayed CNS myelination	54496	PRMT7	OMIM:617157
HP:0002188	Delayed CNS myelination	5530	PPP3CA	OMIM:617711
HP:0002188	Delayed CNS myelination	10352	WARS2	OMIM:617710
HP:0002188	Delayed CNS myelination	23511	NUP188	OMIM:618804
HP:0002188	Delayed CNS myelination	26007	TKFC	OMIM:618805
HP:0002188	Delayed CNS myelination	3054	HCFC1	OMIM:309541
HP:0002188	Delayed CNS myelination	51608	GET4	OMIM:620200
HP:0002188	Delayed CNS myelination	4594	MMUT	OMIM:251000
HP:0002188	Delayed CNS myelination	2898	GRIK2	OMIM:619580
HP:0002188	Delayed CNS myelination	11342	RNF13	OMIM:618379
HP:0002188	Delayed CNS myelination	9758	FRMPD4	OMIM:300983
HP:0002188	Delayed CNS myelination	4761	NEUROD2	OMIM:618374
HP:0002188	Delayed CNS myelination	54664	TMEM106B	OMIM:617964
HP:0002188	Delayed CNS myelination	6785	ELOVL4	OMIM:614457
HP:0002188	Delayed CNS myelination	8883	NAE1	OMIM:620210
HP:0002188	Delayed CNS myelination	8943	AP3D1	OMIM:617050
HP:0002188	Delayed CNS myelination	57498	KIDINS220	OMIM:617296
HP:0002188	Delayed CNS myelination	51095	TRNT1	OMIM:616084
HP:0002188	Delayed CNS myelination	51501	HIKESHI	OMIM:616881
HP:0002188	Delayed CNS myelination	94005	PIGS	OMIM:618143
HP:0002188	Delayed CNS myelination	57468	SLC12A5	OMIM:616645
HP:0002188	Delayed CNS myelination	3747	KCNC2	OMIM:619913
HP:0002188	Delayed CNS myelination	1213	CLTC	OMIM:617854
HP:0002188	Delayed CNS myelination	91461	PKDCC	OMIM:618821
HP:0002188	Delayed CNS myelination	8452	CUL3	OMIM:619239
HP:0002188	Delayed CNS myelination	4329	ALDH6A1	OMIM:614105
HP:0002188	Delayed CNS myelination	3704	ITPA	OMIM:616647
HP:0002188	Delayed CNS myelination	100147744	RNU7-1	OMIM:619487
HP:0002188	Delayed CNS myelination	8567	MADD	OMIM:619004
HP:0002188	Delayed CNS myelination	8567	MADD	OMIM:619005
HP:0002188	Delayed CNS myelination	51124	IER3IP1	OMIM:614231
HP:0002188	Delayed CNS myelination	2566	GABRG2	OMIM:618396
HP:0002188	Delayed CNS myelination	57570	TRMT5	OMIM:616539
HP:0002188	Delayed CNS myelination	9739	SETD1A	OMIM:618832
HP:0002188	Delayed CNS myelination	6509	SLC1A4	OMIM:616657
HP:0002188	Delayed CNS myelination	8911	CACNA1I	OMIM:620114
HP:0002188	Delayed CNS myelination	617	BCS1L	OMIM:124000
HP:0002188	Delayed CNS myelination	95	ACY1	OMIM:609924
HP:0002188	Delayed CNS myelination	6529	SLC6A1	OMIM:616421
HP:0002188	Delayed CNS myelination	23154	NCDN	OMIM:619373
HP:0002188	Delayed CNS myelination	5455	POU3F3	OMIM:618604
HP:0002188	Delayed CNS myelination	5430	POLR2A	OMIM:618603
HP:0002188	Delayed CNS myelination	81615	TMEM163	OMIM:620243
HP:0002188	Delayed CNS myelination	9939	RBM8A	OMIM:274000
HP:0002188	Delayed CNS myelination	124454	EARS2	OMIM:614924
HP:0002188	Delayed CNS myelination	10079	ATP9A	OMIM:620242
HP:0002188	Delayed CNS myelination	2801	GOLGA2	OMIM:620240
HP:0002188	Delayed CNS myelination	64802	NMNAT1	OMIM:619260
HP:0002188	Delayed CNS myelination	29928	TIMM22	OMIM:618851
HP:0002188	Delayed CNS myelination	51733	UPB1	OMIM:613161
HP:0002188	Delayed CNS myelination	57647	DHX37	OMIM:618731
HP:0002188	Delayed CNS myelination	23404	EXOSC2	OMIM:617763
HP:0002188	Delayed CNS myelination	221692	PHACTR1	OMIM:618298
HP:0002188	Delayed CNS myelination	10464	PIBF1	OMIM:617767
HP:0002188	Delayed CNS myelination	221927	BRAT1	OMIM:614498
HP:0001262	Excessive daytime somnolence	4927	NUP88	ORPHA:994
HP:0001262	Excessive daytime somnolence	7846	TUBA1A	ORPHA:994
HP:0001262	Excessive daytime somnolence	4654	MYOD1	ORPHA:994
HP:0001262	Excessive daytime somnolence	4593	MUSK	ORPHA:994
HP:0001262	Excessive daytime somnolence	5913	RAPSN	ORPHA:994
HP:0001262	Excessive daytime somnolence	6572	SLC18A3	ORPHA:994
HP:0001262	Excessive daytime somnolence	285489	DOK7	ORPHA:994
HP:0001262	Excessive daytime somnolence	3064	HTT	ORPHA:399
HP:0001262	Excessive daytime somnolence	6515	SLC2A3	ORPHA:399
HP:0001262	Excessive daytime somnolence	8314	BAP1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	4771	NF2	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6598	SMARCB1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	5155	PDGFB	ORPHA:2495
HP:0001262	Excessive daytime somnolence	84231	TRAF7	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6608	SMO	ORPHA:2495
HP:0001262	Excessive daytime somnolence	207	AKT1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	5290	PIK3CA	ORPHA:2495
HP:0001262	Excessive daytime somnolence	7015	TERT	ORPHA:2495
HP:0001262	Excessive daytime somnolence	51684	SUFU	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6605	SMARCE1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	84334	COA8	ORPHA:436271
HP:0001262	Excessive daytime somnolence	2705	GJB1	ORPHA:101075
HP:0001262	Excessive daytime somnolence	2203	FBP1	ORPHA:348
HP:0001262	Excessive daytime somnolence	3060	HCRT	OMIM:161400
HP:0001262	Excessive daytime somnolence	3060	HCRT	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3060	HCRT	ORPHA:2073
HP:0001262	Excessive daytime somnolence	5631	PRPS1	ORPHA:99014
HP:0001262	Excessive daytime somnolence	3594	IL12RB1	ORPHA:186
HP:0001262	Excessive daytime somnolence	23534	TNPO3	ORPHA:186
HP:0001262	Excessive daytime somnolence	3592	IL12A	ORPHA:186
HP:0001262	Excessive daytime somnolence	6689	SPIB	ORPHA:186
HP:0001262	Excessive daytime somnolence	5450	POU2AF1	ORPHA:186
HP:0001262	Excessive daytime somnolence	9966	TNFSF15	ORPHA:186
HP:0001262	Excessive daytime somnolence	79258	MMEL1	ORPHA:186
HP:0001262	Excessive daytime somnolence	3663	IRF5	ORPHA:186
HP:0001262	Excessive daytime somnolence	3119	HLA-DQB1	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3119	HLA-DQB1	ORPHA:2073
HP:0001262	Excessive daytime somnolence	22891	ZNF365	ORPHA:83465
HP:0001262	Excessive daytime somnolence	22891	ZNF365	ORPHA:2073
HP:0001262	Excessive daytime somnolence	3123	HLA-DRB1	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3123	HLA-DRB1	ORPHA:2073
HP:0001262	Excessive daytime somnolence	57465	TBC1D24	ORPHA:352596
HP:0001262	Excessive daytime somnolence	4552	MTRR	ORPHA:2169
HP:0001262	Excessive daytime somnolence	1786	DNMT1	OMIM:614116
HP:0001262	Excessive daytime somnolence	1786	DNMT1	OMIM:604121
HP:0001262	Excessive daytime somnolence	1717	DHCR7	ORPHA:818
HP:0001262	Excessive daytime somnolence	1760	DMPK	OMIM:160900
HP:0001262	Excessive daytime somnolence	56652	TWNK	OMIM:271245
HP:0001262	Excessive daytime somnolence	29954	POMT2	OMIM:236670
HP:0001262	Excessive daytime somnolence	9215	LARGE1	OMIM:236670
HP:0001262	Excessive daytime somnolence	79147	FKRP	OMIM:236670
HP:0001262	Excessive daytime somnolence	10585	POMT1	OMIM:236670
HP:0001262	Excessive daytime somnolence	2218	FKTN	OMIM:236670
HP:0001262	Excessive daytime somnolence	38	ACAT1	ORPHA:134
HP:0001262	Excessive daytime somnolence	5805	PTS	OMIM:261640
HP:0001262	Excessive daytime somnolence	1512	CTSH	ORPHA:2073
HP:0001262	Excessive daytime somnolence	5032	P2RY11	ORPHA:2073
HP:0001262	Excessive daytime somnolence	4340	MOG	ORPHA:2073
HP:0001262	Excessive daytime somnolence	4340	MOG	OMIM:614250
HP:0001262	Excessive daytime somnolence	7292	TNFSF4	ORPHA:2073
HP:0001262	Excessive daytime somnolence	55870	ASH1L	OMIM:617796
HP:0001262	Excessive daytime somnolence	1807	DPYS	OMIM:222748
HP:0001262	Excessive daytime somnolence	3155	HMGCL	OMIM:246450
HP:0001262	Excessive daytime somnolence	3145	HMBS	ORPHA:79276
HP:0001262	Excessive daytime somnolence	8260	NAA10	ORPHA:276432
HP:0001262	Excessive daytime somnolence	1188	CLCNKB	ORPHA:358
HP:0001262	Excessive daytime somnolence	6559	SLC12A3	ORPHA:358
HP:0001262	Excessive daytime somnolence	1499	CTNNB1	ORPHA:54595
HP:0001262	Excessive daytime somnolence	673	BRAF	ORPHA:54595
HP:0001262	Excessive daytime somnolence	7187	TRAF3	ORPHA:1930
HP:0001262	Excessive daytime somnolence	81622	UNC93B1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	148022	TICAM1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	7098	TLR3	ORPHA:1930
HP:0001262	Excessive daytime somnolence	29110	TBK1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	6584	SLC22A5	OMIM:212140
HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0032794	Myoclonic seizure	401474	SAMD12	OMIM:601068
HP:0032794	Myoclonic seizure	4558	MT-TF	ORPHA:551
HP:0032794	Myoclonic seizure	4558	MT-TF	OMIM:545000
HP:0032794	Myoclonic seizure	4567	MT-TL1	ORPHA:551
HP:0032794	Myoclonic seizure	4567	MT-TL1	ORPHA:255210
HP:0032794	Myoclonic seizure	4567	MT-TL1	OMIM:545000
HP:0032794	Myoclonic seizure	4549	MT-RNR1	ORPHA:551
HP:0032794	Myoclonic seizure	4574	MT-TS1	ORPHA:551
HP:0032794	Myoclonic seizure	4575	MT-TS2	ORPHA:551
HP:0032794	Myoclonic seizure	4571	MT-TP	ORPHA:551
HP:0032794	Myoclonic seizure	4571	MT-TP	OMIM:545000
HP:0032794	Myoclonic seizure	4572	MT-TQ	ORPHA:551
HP:0032794	Myoclonic seizure	4540	MT-ND5	ORPHA:551
HP:0032794	Myoclonic seizure	4540	MT-ND5	ORPHA:255210
HP:0032794	Myoclonic seizure	4566	MT-TK	ORPHA:551
HP:0032794	Myoclonic seizure	4566	MT-TK	ORPHA:255210
HP:0032794	Myoclonic seizure	4566	MT-TK	OMIM:545000
HP:0032794	Myoclonic seizure	4564	MT-TH	ORPHA:551
HP:0032794	Myoclonic seizure	6323	SCN1A	OMIM:607208
HP:0032794	Myoclonic seizure	6323	SCN1A	ORPHA:2382
HP:0032794	Myoclonic seizure	6323	SCN1A	ORPHA:36387
HP:0032794	Myoclonic seizure	6323	SCN1A	ORPHA:33069
HP:0032794	Myoclonic seizure	6323	SCN1A	OMIM:604403
HP:0032794	Myoclonic seizure	6323	SCN1A	ORPHA:1942
HP:0032794	Myoclonic seizure	57526	PCDH19	ORPHA:101039
HP:0032794	Myoclonic seizure	57526	PCDH19	OMIM:300088
HP:0032794	Myoclonic seizure	57526	PCDH19	ORPHA:33069
HP:0032794	Myoclonic seizure	10059	DNM1L	ORPHA:330050
HP:0032794	Myoclonic seizure	7915	ALDH5A1	ORPHA:22
HP:0032794	Myoclonic seizure	7915	ALDH5A1	OMIM:271980
HP:0032794	Myoclonic seizure	4524	MTHFR	ORPHA:395
HP:0032794	Myoclonic seizure	340533	NEXMIF	OMIM:300912
HP:0032794	Myoclonic seizure	340533	NEXMIF	ORPHA:1942
HP:0032794	Myoclonic seizure	57468	SLC12A5	OMIM:616685
HP:0032794	Myoclonic seizure	1859	DYRK1A	ORPHA:268261
HP:0032794	Myoclonic seizure	343450	KCNT2	OMIM:617771
HP:0032794	Myoclonic seizure	8818	DPM2	ORPHA:329178
HP:0032794	Myoclonic seizure	2720	GLB1	OMIM:230600
HP:0032794	Myoclonic seizure	2896	GRN	OMIM:614706
HP:0032794	Myoclonic seizure	170302	ARX	OMIM:308350
HP:0032794	Myoclonic seizure	4758	NEU1	ORPHA:93399
HP:0032794	Myoclonic seizure	64324	NSD1	ORPHA:821
HP:0032794	Myoclonic seizure	29072	SETD2	ORPHA:821
HP:0032794	Myoclonic seizure	10297	APC2	ORPHA:821
HP:0032794	Myoclonic seizure	57465	TBC1D24	OMIM:605021
HP:0032794	Myoclonic seizure	57465	TBC1D24	ORPHA:352596
HP:0032794	Myoclonic seizure	57465	TBC1D24	ORPHA:352582
HP:0032794	Myoclonic seizure	501	ALDH7A1	OMIM:266100
HP:0032794	Myoclonic seizure	4535	MT-ND1	ORPHA:255210
HP:0032794	Myoclonic seizure	4536	MT-ND2	ORPHA:255210
HP:0032794	Myoclonic seizure	4537	MT-ND3	ORPHA:255210
HP:0032794	Myoclonic seizure	4538	MT-ND4	ORPHA:255210
HP:0032794	Myoclonic seizure	4578	MT-TW	ORPHA:255210
HP:0032794	Myoclonic seizure	4577	MT-TV	ORPHA:255210
HP:0032794	Myoclonic seizure	4508	MT-ATP6	ORPHA:255210
HP:0032794	Myoclonic seizure	4541	MT-ND6	ORPHA:255210
HP:0032794	Myoclonic seizure	6792	CDKL5	ORPHA:3095
HP:0032794	Myoclonic seizure	6792	CDKL5	OMIM:300672
HP:0032794	Myoclonic seizure	22854	NTNG1	ORPHA:3095
HP:0032794	Myoclonic seizure	9568	GABBR2	ORPHA:3095
HP:0032794	Myoclonic seizure	4204	MECP2	ORPHA:3095
HP:0032794	Myoclonic seizure	8243	SMC1A	ORPHA:3095
HP:0032794	Myoclonic seizure	2593	GAMT	ORPHA:382
HP:0032794	Myoclonic seizure	2563	GABRD	OMIM:613060
HP:0032794	Myoclonic seizure	2563	GABRD	ORPHA:36387
HP:0032794	Myoclonic seizure	79587	CARS2	ORPHA:477774
HP:0032794	Myoclonic seizure	1106	CHD2	OMIM:615369
HP:0032794	Myoclonic seizure	1106	CHD2	ORPHA:2382
HP:0032794	Myoclonic seizure	1106	CHD2	ORPHA:1942
HP:0032794	Myoclonic seizure	55768	NGLY1	ORPHA:404454
HP:0032794	Myoclonic seizure	54820	NDE1	OMIM:605013
HP:0032794	Myoclonic seizure	3767	KCNJ11	ORPHA:99885
HP:0032794	Myoclonic seizure	6774	STAT3	ORPHA:99885
HP:0032794	Myoclonic seizure	2645	GCK	ORPHA:99885
HP:0032794	Myoclonic seizure	3651	PDX1	ORPHA:99885
HP:0032794	Myoclonic seizure	6833	ABCC8	ORPHA:99885
HP:0032794	Myoclonic seizure	3630	INS	ORPHA:99885
HP:0032794	Myoclonic seizure	154881	KCTD7	OMIM:611726
HP:0032794	Myoclonic seizure	10166	SLC25A15	ORPHA:415
HP:0032794	Myoclonic seizure	10166	SLC25A15	OMIM:238970
HP:0032794	Myoclonic seizure	427	ASAH1	OMIM:159950
HP:0032794	Myoclonic seizure	427	ASAH1	ORPHA:2590
HP:0032794	Myoclonic seizure	4694	NDUFA1	OMIM:301020
HP:0032794	Myoclonic seizure	150094	SIK1	OMIM:616341
HP:0032794	Myoclonic seizure	150094	SIK1	ORPHA:1935
HP:0032794	Myoclonic seizure	116150	NUS1	OMIM:617831
HP:0032794	Myoclonic seizure	79947	DHDDS	OMIM:617836
HP:0032794	Myoclonic seizure	686	BTD	ORPHA:79241
HP:0032794	Myoclonic seizure	10939	AFG3L2	ORPHA:313772
HP:0032794	Myoclonic seizure	10939	AFG3L2	OMIM:614487
HP:0032794	Myoclonic seizure	128989	TANGO2	ORPHA:480864
HP:0032794	Myoclonic seizure	57531	HACE1	ORPHA:464282
HP:0032794	Myoclonic seizure	57531	HACE1	OMIM:616756
HP:0032794	Myoclonic seizure	80856	LNPK	OMIM:618090
HP:0032794	Myoclonic seizure	51651	PTRH2	ORPHA:456312
HP:0032794	Myoclonic seizure	1759	DNM1	ORPHA:2382
HP:0032794	Myoclonic seizure	2562	GABRB3	ORPHA:2382
HP:0032794	Myoclonic seizure	5602	MAPK10	ORPHA:2382
HP:0032794	Myoclonic seizure	773	CACNA1A	ORPHA:2382
HP:0032794	Myoclonic seizure	23316	CUX2	ORPHA:2382
HP:0032794	Myoclonic seizure	23316	CUX2	OMIM:618141
HP:0032794	Myoclonic seizure	4565	MT-TI	OMIM:545000
HP:0032794	Myoclonic seizure	5277	PIGA	OMIM:300868
HP:0032794	Myoclonic seizure	83696	TRAPPC9	ORPHA:352530
HP:0032794	Myoclonic seizure	6785	ELOVL4	OMIM:614457
HP:0032794	Myoclonic seizure	26227	PHGDH	ORPHA:79351
HP:0032794	Myoclonic seizure	144165	PRICKLE1	OMIM:612437
HP:0032794	Myoclonic seizure	6335	SCN9A	ORPHA:36387
HP:0032794	Myoclonic seizure	6335	SCN9A	ORPHA:33069
HP:0032794	Myoclonic seizure	112755	STX1B	ORPHA:36387
HP:0032794	Myoclonic seizure	6326	SCN2A	ORPHA:36387
HP:0032794	Myoclonic seizure	6326	SCN2A	ORPHA:33069
HP:0032794	Myoclonic seizure	6324	SCN1B	ORPHA:36387
HP:0032794	Myoclonic seizure	6324	SCN1B	ORPHA:33069
HP:0032794	Myoclonic seizure	6324	SCN1B	OMIM:617350
HP:0032794	Myoclonic seizure	348980	HCN1	ORPHA:36387
HP:0032794	Myoclonic seizure	84059	ADGRV1	ORPHA:36387
HP:0032794	Myoclonic seizure	2566	GABRG2	ORPHA:36387
HP:0032794	Myoclonic seizure	2566	GABRG2	ORPHA:33069
HP:0032794	Myoclonic seizure	2629	GBA1	OMIM:231000
HP:0032794	Myoclonic seizure	2629	GBA1	ORPHA:2072
HP:0032794	Myoclonic seizure	2629	GBA1	ORPHA:77261
HP:0032794	Myoclonic seizure	2629	GBA1	ORPHA:77260
HP:0032794	Myoclonic seizure	1798	DPAGT1	ORPHA:86309
HP:0032794	Myoclonic seizure	6611	SMS	ORPHA:3063
HP:0032794	Myoclonic seizure	57061	HYMAI	ORPHA:96191
HP:0032794	Myoclonic seizure	5325	PLAGL1	ORPHA:96191
HP:0032794	Myoclonic seizure	56978	PRDM8	OMIM:616640
HP:0032794	Myoclonic seizure	6812	STXBP1	OMIM:612164
HP:0032794	Myoclonic seizure	51604	PIGT	ORPHA:369837
HP:0032794	Myoclonic seizure	10815	CPLX1	OMIM:617976
HP:0032794	Myoclonic seizure	10815	CPLX1	ORPHA:352582
HP:0032794	Myoclonic seizure	4983	OPHN1	ORPHA:137831
HP:0032794	Myoclonic seizure	79751	SLC25A22	OMIM:609304
HP:0032794	Myoclonic seizure	79751	SLC25A22	ORPHA:1935
HP:0032794	Myoclonic seizure	2554	GABRA1	ORPHA:33069
HP:0032794	Myoclonic seizure	378884	NHLRC1	ORPHA:501
HP:0032794	Myoclonic seizure	378884	NHLRC1	OMIM:254780
HP:0032794	Myoclonic seizure	7957	EPM2A	ORPHA:501
HP:0032794	Myoclonic seizure	7957	EPM2A	OMIM:254780
HP:0032794	Myoclonic seizure	5293	PIK3CD	ORPHA:221139
HP:0032794	Myoclonic seizure	5293	PIK3CD	OMIM:613328
HP:0032794	Myoclonic seizure	90417	KNSTRN	ORPHA:221139
HP:0032794	Myoclonic seizure	90417	KNSTRN	OMIM:613328
HP:0032794	Myoclonic seizure	9289	ADGRG1	ORPHA:101070
HP:0032794	Myoclonic seizure	5728	PTEN	ORPHA:101070
HP:0032794	Myoclonic seizure	51124	IER3IP1	OMIM:614231
HP:0032794	Myoclonic seizure	10991	SLC38A3	OMIM:619881
HP:0032794	Myoclonic seizure	79143	MBOAT7	OMIM:617188
HP:0032794	Myoclonic seizure	283989	TSEN54	ORPHA:2524
HP:0032794	Myoclonic seizure	116461	TSEN15	ORPHA:2524
HP:0032794	Myoclonic seizure	79042	TSEN34	ORPHA:2524
HP:0032794	Myoclonic seizure	80746	TSEN2	ORPHA:2524
HP:0032794	Myoclonic seizure	51091	SEPSECS	ORPHA:2524
HP:0032794	Myoclonic seizure	256471	MFSD8	OMIM:610951
HP:0032794	Myoclonic seizure	114327	EFHC1	OMIM:607631
HP:0032794	Myoclonic seizure	1181	CLCN2	OMIM:607628
HP:0032794	Myoclonic seizure	54802	TRIT1	OMIM:617873
HP:0032794	Myoclonic seizure	84823	LMNB2	OMIM:616540
HP:0032794	Myoclonic seizure	6389	SDHA	ORPHA:3208
HP:0032794	Myoclonic seizure	6390	SDHB	ORPHA:3208
HP:0032794	Myoclonic seizure	6392	SDHD	ORPHA:3208
HP:0032794	Myoclonic seizure	644096	SDHAF1	ORPHA:3208
HP:0032794	Myoclonic seizure	51294	PCDH12	OMIM:251280
HP:0032794	Myoclonic seizure	2055	CLN8	ORPHA:1947
HP:0032794	Myoclonic seizure	2581	GALC	ORPHA:206436
HP:0032794	Myoclonic seizure	5660	PSAP	ORPHA:206436
HP:0032794	Myoclonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0032794	Myoclonic seizure	8813	DPM1	ORPHA:79322
HP:0032794	Myoclonic seizure	6513	SLC2A1	ORPHA:1942
HP:0032794	Myoclonic seizure	8831	SYNGAP1	ORPHA:1942
HP:0032794	Myoclonic seizure	1173	AP2M1	ORPHA:1942
HP:0032794	Myoclonic seizure	6529	SLC6A1	ORPHA:1942
HP:0032794	Myoclonic seizure	701	BUB1B	OMIM:257300
HP:0032794	Myoclonic seizure	10243	GPHN	OMIM:615501
HP:0032794	Myoclonic seizure	221927	BRAT1	OMIM:614498
HP:0032794	Myoclonic seizure	22858	CILK1	OMIM:617924
HP:0032794	Myoclonic seizure	2902	GRIN1	ORPHA:208447
HP:0032794	Myoclonic seizure	1719	DHFR	OMIM:613839
HP:0032794	Myoclonic seizure	1203	CLN5	ORPHA:228360
HP:0032794	Myoclonic seizure	2137	EXTL3	ORPHA:508533
HP:0032794	Myoclonic seizure	8943	AP3D1	OMIM:617050
HP:0032794	Myoclonic seizure	776	CACNA1D	ORPHA:369929
HP:0032794	Myoclonic seizure	6304	SATB1	OMIM:619229
HP:0032794	Myoclonic seizure	29920	PYCR2	ORPHA:481152
HP:0032794	Myoclonic seizure	2903	GRIN2A	ORPHA:98818
HP:0032794	Myoclonic seizure	5428	POLG	OMIM:203700
HP:0032794	Myoclonic seizure	5457	POU4F1	ORPHA:314647
HP:0032794	Myoclonic seizure	23261	CAMTA1	ORPHA:314647
HP:0032794	Myoclonic seizure	11212	PLPBP	ORPHA:3006
HP:0032794	Myoclonic seizure	79583	TMEM231	ORPHA:2752
HP:0032794	Myoclonic seizure	26960	NBEA	OMIM:619157
HP:0032794	Myoclonic seizure	4723	NDUFV1	OMIM:618225
HP:0032794	Myoclonic seizure	23241	PACS2	OMIM:618067
HP:0032794	Myoclonic seizure	8733	GPAA1	OMIM:617810
HP:0032794	Myoclonic seizure	775	CACNA1C	OMIM:620029
HP:0032794	Myoclonic seizure	81570	CLPB	OMIM:619835
HP:0032794	Myoclonic seizure	10667	FARS2	OMIM:614946
HP:0032794	Myoclonic seizure	51343	FZR1	OMIM:620145
HP:0032794	Myoclonic seizure	8496	PPFIBP1	OMIM:620024
HP:0032794	Myoclonic seizure	3778	KCNMA1	OMIM:618596
HP:0032794	Myoclonic seizure	3778	KCNMA1	OMIM:617643
HP:0032794	Myoclonic seizure	387119	CEP85L	OMIM:618873
HP:0032794	Myoclonic seizure	387119	CEP85L	ORPHA:572013
HP:0032794	Myoclonic seizure	79868	ALG13	OMIM:300884
HP:0032794	Myoclonic seizure	3074	HEXB	OMIM:268800
HP:0032794	Myoclonic seizure	3074	HEXB	ORPHA:309155
HP:0032794	Myoclonic seizure	8867	SYNJ1	OMIM:617389
HP:0032794	Myoclonic seizure	51506	UFC1	OMIM:618076
HP:0032794	Myoclonic seizure	6487	ST3GAL3	OMIM:615006
HP:0032794	Myoclonic seizure	84816	RTN4IP1	OMIM:616732
HP:0032794	Myoclonic seizure	2782	GNB1	OMIM:616973
HP:0032794	Myoclonic seizure	7532	YWHAG	OMIM:617665
HP:0032794	Myoclonic seizure	10565	ARFGEF1	OMIM:619964
HP:0032794	Myoclonic seizure	16	AARS1	OMIM:616339
HP:0032794	Myoclonic seizure	55152	DALRD3	OMIM:618910
HP:0032794	Myoclonic seizure	23499	MACF1	ORPHA:572013
HP:0032794	Myoclonic seizure	23499	MACF1	OMIM:618325
HP:0032794	Myoclonic seizure	5934	RBL2	OMIM:619690
HP:0032794	Myoclonic seizure	1351	COX8A	OMIM:619059
HP:0032794	Myoclonic seizure	56915	EXOSC5	OMIM:619576
HP:0032794	Myoclonic seizure	25915	NDUFAF3	OMIM:618240
HP:0032794	Myoclonic seizure	79641	ROGDI	OMIM:226750
HP:0032794	Myoclonic seizure	3746	KCNC1	OMIM:616187
HP:0032794	Myoclonic seizure	79029	AFG2B	OMIM:619616
HP:0032794	Myoclonic seizure	5530	PPP3CA	OMIM:617711
HP:0032794	Myoclonic seizure	27315	PGAP2	OMIM:614207
HP:0032794	Myoclonic seizure	1201	CLN3	ORPHA:228346
HP:0032794	Myoclonic seizure	1509	CTSD	OMIM:610127
HP:0032794	Myoclonic seizure	9570	GOSR2	OMIM:620166
HP:0032794	Myoclonic seizure	2898	GRIK2	OMIM:619580
HP:0032794	Myoclonic seizure	815	CAMK2A	OMIM:618095
HP:0032794	Myoclonic seizure	23258	DENND5A	OMIM:617281
HP:0032794	Myoclonic seizure	774	CACNA1B	OMIM:618497
HP:0032794	Myoclonic seizure	283987	HID1	OMIM:619983
HP:0032794	Myoclonic seizure	25930	PTPN23	OMIM:618890
HP:0032794	Myoclonic seizure	523	ATP6V1A	OMIM:618012
HP:0032794	Myoclonic seizure	23152	CIC	OMIM:617600
HP:0032794	Myoclonic seizure	23265	EXOC7	OMIM:619072
HP:0032794	Myoclonic seizure	23312	DMXL2	OMIM:618663
HP:0032794	Myoclonic seizure	1182	CLCN3	OMIM:619512
HP:0032794	Myoclonic seizure	1182	CLCN3	OMIM:619517
HP:0032794	Myoclonic seizure	3737	KCNA2	OMIM:616366
HP:0032794	Myoclonic seizure	149371	EXOC8	OMIM:619076
HP:0032794	Myoclonic seizure	3747	KCNC2	OMIM:619913
HP:0032794	Myoclonic seizure	22931	RAB18	OMIM:614222
HP:0032794	Myoclonic seizure	116115	ZNF526	OMIM:619877
HP:0032794	Myoclonic seizure	4191	MDH2	OMIM:617339
HP:0032794	Myoclonic seizure	9091	PIGQ	OMIM:618548
HP:0032794	Myoclonic seizure	1917	EEF1A2	OMIM:616409
HP:0032794	Myoclonic seizure	93210	PGAP3	OMIM:615716
HP:0032794	Myoclonic seizure	80781	COL18A1	OMIM:267750
HP:0032794	Myoclonic seizure	51611	DPH5	OMIM:620070
HP:0032794	Myoclonic seizure	728294	D2HGDH	OMIM:600721
HP:0032794	Myoclonic seizure	2571	GAD1	OMIM:619124
HP:0032794	Myoclonic seizure	10021	HCN4	OMIM:619521
HP:0032794	Myoclonic seizure	128240	NAXE	OMIM:617186
HP:0032794	Myoclonic seizure	23067	SETD1B	OMIM:619000
HP:0032794	Myoclonic seizure	2904	GRIN2B	OMIM:616139
HP:0032794	Myoclonic seizure	6506	SLC1A2	OMIM:617105
HP:0032794	Myoclonic seizure	23031	MAST3	OMIM:620115
HP:0032794	Myoclonic seizure	2558	GABRA5	OMIM:618559
HP:0032794	Myoclonic seizure	4677	NARS1	OMIM:619091
HP:0032794	Myoclonic seizure	4677	NARS1	OMIM:619092
HP:0032794	Myoclonic seizure	23154	NCDN	OMIM:619373
HP:0032794	Myoclonic seizure	125988	MICOS13	OMIM:618329
HP:0032794	Myoclonic seizure	9487	PIGL	OMIM:280000
HP:0032794	Myoclonic seizure	55275	VPS53	OMIM:615851
HP:0032794	Myoclonic seizure	23219	FBXO28	OMIM:619777
HP:0032794	Myoclonic seizure	1107	CHD3	OMIM:618205
HP:0032794	Myoclonic seizure	129285	PPP1R21	OMIM:619383
HP:0032794	Myoclonic seizure	80331	DNAJC5	OMIM:162350
HP:0032794	Myoclonic seizure	51645	PPIL1	OMIM:619301
HP:0032794	Myoclonic seizure	7040	TGFB1	OMIM:618213
HP:0032794	Myoclonic seizure	51362	CDC40	OMIM:619302
HP:0032794	Myoclonic seizure	1496	CTNNA2	OMIM:618174
HP:0032794	Myoclonic seizure	3832	KIF11	OMIM:152950
HP:0032794	Myoclonic seizure	58497	PRUNE1	ORPHA:544469
HP:0032794	Myoclonic seizure	1460	CSNK2B	OMIM:618732
HP:0032794	Myoclonic seizure	10695	CNPY3	OMIM:617929
HP:0032794	Myoclonic seizure	2760	GM2A	OMIM:272750
HP:0032799	Focal impaired awareness hemiclonic seizure	781	CACNA2D1	OMIM:620149
HP:0002190	Choroid plexus cyst	2271	FH	OMIM:606812
HP:0002190	Choroid plexus cyst	2294	FOXF1	OMIM:265380
HP:0002190	Choroid plexus cyst	27031	NPHP3	OMIM:267010
HP:0002190	Choroid plexus cyst	149371	EXOC8	OMIM:619076
HP:0002190	Choroid plexus cyst	23327	NEDD4L	OMIM:617201
HP:0002190	Choroid plexus cyst	112752	IFT43	OMIM:617866
HP:0002190	Choroid plexus cyst	10472	ZBTB18	OMIM:612337
HP:0002190	Choroid plexus cyst	57688	ZSWIM6	ORPHA:1827
HP:0002190	Choroid plexus cyst	57688	ZSWIM6	OMIM:603671
HP:0002190	Choroid plexus cyst	26040	SETBP1	ORPHA:798
HP:0002190	Choroid plexus cyst	26227	PHGDH	OMIM:256520
HP:0002191	Progressive spasticity	6904	TBCD	ORPHA:496641
HP:0002191	Progressive spasticity	85465	SELENOI	ORPHA:506353
HP:0002191	Progressive spasticity	6197	RPS6KA3	ORPHA:192
HP:0002191	Progressive spasticity	1499	CTNNB1	OMIM:615075
HP:0002191	Progressive spasticity	129685	TAF8	OMIM:619972
HP:0002191	Progressive spasticity	84504	NKX6-2	ORPHA:527497
HP:0002191	Progressive spasticity	55157	DARS2	ORPHA:137898
HP:0002191	Progressive spasticity	8560	DEGS1	OMIM:618404
HP:0002191	Progressive spasticity	8398	PLA2G6	ORPHA:35069
HP:0002191	Progressive spasticity	5428	POLG	ORPHA:726
HP:0002191	Progressive spasticity	4204	MECP2	OMIM:300260
HP:0002191	Progressive spasticity	57165	GJC2	OMIM:608804
HP:0002191	Progressive spasticity	51218	GLRX5	ORPHA:401866
HP:0002191	Progressive spasticity	10943	MSL3	OMIM:301032
HP:0002191	Progressive spasticity	2581	GALC	OMIM:245200
HP:0002191	Progressive spasticity	57688	ZSWIM6	OMIM:617865
HP:0002191	Progressive spasticity	80208	SPG11	ORPHA:2822
HP:0002191	Progressive spasticity	3329	HSPD1	OMIM:612233
HP:0002191	Progressive spasticity	4976	OPA1	OMIM:210000
HP:0002191	Progressive spasticity	410	ARSA	ORPHA:309271
HP:0002191	Progressive spasticity	5660	PSAP	ORPHA:309271
HP:0002191	Progressive spasticity	23400	ATP13A2	ORPHA:513436
HP:0002191	Progressive spasticity	5354	PLP1	ORPHA:280234
HP:0002191	Progressive spasticity	5354	PLP1	OMIM:312080
HP:0002191	Progressive spasticity	54	ACP5	OMIM:607944
HP:0002191	Progressive spasticity	2760	GM2A	ORPHA:309246
HP:0002191	Progressive spasticity	79152	FA2H	ORPHA:329308
HP:0002191	Progressive spasticity	6711	SPTBN1	OMIM:619475
HP:0002191	Progressive spasticity	133686	NADK2	ORPHA:431361
HP:0002191	Progressive spasticity	9373	PLAA	ORPHA:521426
HP:0002191	Progressive spasticity	383	ARG1	OMIM:207800
HP:0002191	Progressive spasticity	383	ARG1	ORPHA:90
HP:0002191	Progressive spasticity	5048	PAFAH1B1	ORPHA:95232
HP:0002193	Pseudobulbar behavioral symptoms	57679	ALS2	OMIM:205100
HP:0002193	Pseudobulbar behavioral symptoms	57679	ALS2	ORPHA:293168
HP:0002193	Pseudobulbar behavioral symptoms	57679	ALS2	OMIM:606353
HP:0002193	Pseudobulbar behavioral symptoms	57679	ALS2	ORPHA:247604
HP:0002193	Pseudobulbar behavioral symptoms	11160	ERLIN2	ORPHA:247604
HP:0002193	Pseudobulbar behavioral symptoms	83480	PUS3	ORPHA:488627
HP:0002194	Delayed gross motor development	11113	CIT	OMIM:617090
HP:0002194	Delayed gross motor development	85465	SELENOI	ORPHA:506353
HP:0002194	Delayed gross motor development	4625	MYH7	ORPHA:324604
HP:0002194	Delayed gross motor development	7273	TTN	ORPHA:324604
HP:0002194	Delayed gross motor development	23769	FLRT1	ORPHA:320406
HP:0002194	Delayed gross motor development	64837	KLC2	ORPHA:320406
HP:0002194	Delayed gross motor development	388015	RTL1	ORPHA:254534
HP:0002194	Delayed gross motor development	8788	DLK1	ORPHA:254534
HP:0002194	Delayed gross motor development	55384	MEG3	ORPHA:254534
HP:0002194	Delayed gross motor development	57165	GJC2	ORPHA:320401
HP:0002194	Delayed gross motor development	4860	PNP	OMIM:613179
HP:0002194	Delayed gross motor development	775	CACNA1C	OMIM:620029
HP:0002194	Delayed gross motor development	4967	OGDH	OMIM:203740
HP:0002194	Delayed gross motor development	1756	DMD	OMIM:310200
HP:0002194	Delayed gross motor development	4774	NFIA	OMIM:613735
HP:0002194	Delayed gross motor development	1119	CHKA	OMIM:620023
HP:0002194	Delayed gross motor development	274	BIN1	ORPHA:169189
HP:0002194	Delayed gross motor development	64419	MTMR14	ORPHA:169189
HP:0002194	Delayed gross motor development	4618	MYF6	ORPHA:169189
HP:0002194	Delayed gross motor development	1785	DNM2	ORPHA:169189
HP:0002194	Delayed gross motor development	81570	CLPB	ORPHA:445038
HP:0002194	Delayed gross motor development	4867	NPHP1	OMIM:609583
HP:0002194	Delayed gross motor development	5339	PLEC	ORPHA:254361
HP:0002194	Delayed gross motor development	6792	CDKL5	ORPHA:3095
HP:0002194	Delayed gross motor development	6792	CDKL5	ORPHA:505652
HP:0002194	Delayed gross motor development	22854	NTNG1	ORPHA:3095
HP:0002194	Delayed gross motor development	9568	GABBR2	ORPHA:3095
HP:0002194	Delayed gross motor development	116461	TSEN15	OMIM:617026
HP:0002194	Delayed gross motor development	10978	CLP1	ORPHA:411493
HP:0002194	Delayed gross motor development	23030	KDM4B	OMIM:619320
HP:0002194	Delayed gross motor development	1278	COL1A2	OMIM:617821
HP:0002194	Delayed gross motor development	57156	TMEM63C	OMIM:619966
HP:0002194	Delayed gross motor development	57231	SNX14	ORPHA:397709
HP:0002194	Delayed gross motor development	57231	SNX14	OMIM:616354
HP:0002194	Delayed gross motor development	79147	FKRP	OMIM:606612
HP:0002194	Delayed gross motor development	6609	SMPD1	ORPHA:77293
HP:0002194	Delayed gross motor development	24140	FTSJ1	OMIM:309549
HP:0002194	Delayed gross motor development	8913	CACNA1G	OMIM:618087
HP:0002194	Delayed gross motor development	63035	BCORL1	OMIM:301029
HP:0002194	Delayed gross motor development	80224	NUBPL	OMIM:618242
HP:0002194	Delayed gross motor development	9469	CHST3	OMIM:143095
HP:0002194	Delayed gross motor development	113189	CHST14	ORPHA:2953
HP:0002194	Delayed gross motor development	113189	CHST14	OMIM:601776
HP:0002194	Delayed gross motor development	29940	DSE	ORPHA:2953
HP:0002194	Delayed gross motor development	29940	DSE	OMIM:615539
HP:0002194	Delayed gross motor development	1777	DNASE2	OMIM:619858
HP:0002194	Delayed gross motor development	7084	TK2	OMIM:609560
HP:0002194	Delayed gross motor development	10381	TUBB3	ORPHA:300570
HP:0002194	Delayed gross motor development	23184	MESD	OMIM:618644
HP:0002194	Delayed gross motor development	5257	PHKB	ORPHA:79240
HP:0002194	Delayed gross motor development	9969	MED13	OMIM:618009
HP:0002194	Delayed gross motor development	6678	SPARC	OMIM:616507
HP:0002194	Delayed gross motor development	1000	CDH2	OMIM:618929
HP:0002194	Delayed gross motor development	4982	TNFRSF11B	OMIM:239000
HP:0002194	Delayed gross motor development	6872	TAF1	ORPHA:480907
HP:0002194	Delayed gross motor development	6872	TAF1	OMIM:300966
HP:0002194	Delayed gross motor development	51102	MECR	OMIM:617282
HP:0002194	Delayed gross motor development	80856	LNPK	OMIM:618090
HP:0002194	Delayed gross motor development	1277	COL1A1	OMIM:130060
HP:0002194	Delayed gross motor development	4556	MT-TE	ORPHA:254864
HP:0002194	Delayed gross motor development	55687	TRMU	ORPHA:254864
HP:0002194	Delayed gross motor development	2744	GLS	OMIM:618412
HP:0002194	Delayed gross motor development	4297	KMT2A	ORPHA:319182
HP:0002194	Delayed gross motor development	23327	NEDD4L	OMIM:617201
HP:0002194	Delayed gross motor development	833	CARS1	OMIM:618891
HP:0002194	Delayed gross motor development	4041	LRP5	ORPHA:2788
HP:0002194	Delayed gross motor development	3340	NDST1	OMIM:616116
HP:0002194	Delayed gross motor development	649	BMP1	OMIM:614856
HP:0002194	Delayed gross motor development	7138	TNNT1	OMIM:605355
HP:0002194	Delayed gross motor development	2697	GJA1	OMIM:257850
HP:0002194	Delayed gross motor development	1802	DPH2	OMIM:620062
HP:0002194	Delayed gross motor development	50801	KCNK4	OMIM:618381
HP:0002194	Delayed gross motor development	5518	PPP2R1A	OMIM:616362
HP:0002194	Delayed gross motor development	1186	CLCN7	OMIM:618541
HP:0002194	Delayed gross motor development	1280	COL2A1	OMIM:151210
HP:0002194	Delayed gross motor development	8812	CCNK	OMIM:618147
HP:0002194	Delayed gross motor development	9851	KIAA0753	OMIM:619479
HP:0002194	Delayed gross motor development	51095	TRNT1	OMIM:616084
HP:0002194	Delayed gross motor development	51633	OTUD6B	OMIM:617452
HP:0002194	Delayed gross motor development	6531	SLC6A3	OMIM:613135
HP:0002194	Delayed gross motor development	51520	LARS1	OMIM:615438
HP:0002194	Delayed gross motor development	3035	HARS1	OMIM:614504
HP:0002194	Delayed gross motor development	5728	PTEN	ORPHA:109
HP:0002194	Delayed gross motor development	93210	PGAP3	OMIM:615716
HP:0002194	Delayed gross motor development	2248	FGF3	OMIM:610706
HP:0002194	Delayed gross motor development	11198	SUPT16H	OMIM:619480
HP:0002194	Delayed gross motor development	8720	MBTPS1	OMIM:618392
HP:0002194	Delayed gross motor development	79813	EHMT1	ORPHA:261652
HP:0002194	Delayed gross motor development	58508	KMT2C	ORPHA:261652
HP:0002194	Delayed gross motor development	54828	BCAS3	OMIM:619641
HP:0002194	Delayed gross motor development	3198	HOXA1	OMIM:601536
HP:0002194	Delayed gross motor development	122553	TRAPPC6B	OMIM:617862
HP:0002194	Delayed gross motor development	2232	FDXR	ORPHA:543470
HP:0002194	Delayed gross motor development	23112	TNRC6B	OMIM:619243
HP:0002194	Delayed gross motor development	2890	GRIA1	OMIM:619927
HP:0002194	Delayed gross motor development	200424	TET3	OMIM:618798
HP:0002194	Delayed gross motor development	10297	APC2	OMIM:618677
HP:0002194	Delayed gross motor development	79971	WLS	OMIM:619648
HP:0002194	Delayed gross motor development	9562	MINPP1	OMIM:619527
HP:0002194	Delayed gross motor development	6329	SCN4A	ORPHA:98913
HP:0002194	Delayed gross motor development	1134	CHRNA1	ORPHA:98913
HP:0002194	Delayed gross motor development	4038	LRP4	ORPHA:98913
HP:0002194	Delayed gross motor development	4038	LRP4	OMIM:212780
HP:0002194	Delayed gross motor development	1305	COL13A1	ORPHA:98913
HP:0002194	Delayed gross motor development	1144	CHRND	ORPHA:98913
HP:0002194	Delayed gross motor development	1145	CHRNE	ORPHA:98913
HP:0002194	Delayed gross motor development	4593	MUSK	ORPHA:98913
HP:0002194	Delayed gross motor development	5913	RAPSN	ORPHA:98913
HP:0002194	Delayed gross motor development	375790	AGRN	ORPHA:98913
HP:0002194	Delayed gross motor development	221264	AK9	ORPHA:98913
HP:0002194	Delayed gross motor development	285489	DOK7	ORPHA:98913
HP:0002194	Delayed gross motor development	22880	MORC2	OMIM:619090
HP:0002194	Delayed gross motor development	10846	PDE10A	ORPHA:494541
HP:0002194	Delayed gross motor development	3739	KCNA4	OMIM:618284
HP:0002194	Delayed gross motor development	339855	KY	ORPHA:496689
HP:0002194	Delayed gross motor development	476	ATP1A1	ORPHA:564178
HP:0002194	Delayed gross motor development	8565	YARS1	OMIM:619418
HP:0002194	Delayed gross motor development	131118	DNAJC19	ORPHA:66634
HP:0002194	Delayed gross motor development	9928	KIF14	OMIM:617914
HP:0002194	Delayed gross motor development	5557	PRIM1	OMIM:620005
HP:0002194	Delayed gross motor development	57731	SPTBN4	OMIM:617519
HP:0002194	Delayed gross motor development	147372	CCBE1	OMIM:235510
HP:0002194	Delayed gross motor development	79087	ALG12	ORPHA:79324
HP:0002194	Delayed gross motor development	29954	POMT2	ORPHA:206559
HP:0002194	Delayed gross motor development	9896	FIG4	ORPHA:208441
HP:0002194	Delayed gross motor development	9927	MFN2	OMIM:617087
HP:0002194	Delayed gross motor development	51362	CDC40	OMIM:619302
HP:0002194	Delayed gross motor development	1496	CTNNA2	OMIM:618174
HP:0002194	Delayed gross motor development	8803	SUCLA2	OMIM:612073
HP:0002194	Delayed gross motor development	8803	SUCLA2	ORPHA:1933
HP:0002194	Delayed gross motor development	7043	TGFB3	OMIM:615582
HP:0002194	Delayed gross motor development	5256	PHKA2	ORPHA:264580
HP:0002194	Delayed gross motor development	5261	PHKG2	ORPHA:264580
HP:0002194	Delayed gross motor development	96459	FNIP1	OMIM:619705
HP:0002194	Delayed gross motor development	84148	KAT8	OMIM:618974
HP:0002194	Delayed gross motor development	7319	UBE2A	ORPHA:163956
HP:0002194	Delayed gross motor development	8260	NAA10	ORPHA:276432
HP:0002194	Delayed gross motor development	3516	RBPJ	OMIM:614814
HP:0002194	Delayed gross motor development	5297	PI4KA	OMIM:619708
HP:0002194	Delayed gross motor development	2582	GALE	OMIM:230350
HP:0002194	Delayed gross motor development	57498	KIDINS220	OMIM:617296
HP:0002194	Delayed gross motor development	2548	GAA	ORPHA:308552
HP:0002194	Delayed gross motor development	91875	TTC5	OMIM:619244
HP:0002194	Delayed gross motor development	6326	SCN2A	OMIM:618924
HP:0002194	Delayed gross motor development	2137	EXTL3	ORPHA:508533
HP:0002194	Delayed gross motor development	339983	NAT8L	OMIM:614063
HP:0002194	Delayed gross motor development	340533	NEXMIF	OMIM:300912
HP:0002194	Delayed gross motor development	51728	POLR3K	OMIM:619310
HP:0002194	Delayed gross motor development	64116	SLC39A8	OMIM:616721
HP:0002194	Delayed gross motor development	7701	ZNF142	OMIM:618425
HP:0002194	Delayed gross motor development	4191	MDH2	OMIM:617339
HP:0002194	Delayed gross motor development	7358	UGDH	OMIM:618792
HP:0002194	Delayed gross motor development	2904	GRIN2B	OMIM:616139
HP:0002194	Delayed gross motor development	55768	NGLY1	ORPHA:404454
HP:0002194	Delayed gross motor development	64221	ROBO3	OMIM:607313
HP:0002194	Delayed gross motor development	23387	SIK3	OMIM:618162
HP:0002194	Delayed gross motor development	55777	MBD5	OMIM:156200
HP:0002194	Delayed gross motor development	6843	VAMP1	OMIM:618323
HP:0002194	Delayed gross motor development	738	VPS51	OMIM:618606
HP:0002194	Delayed gross motor development	5048	PAFAH1B1	ORPHA:95232
HP:0002194	Delayed gross motor development	1487	CTBP1	OMIM:617915
HP:0002194	Delayed gross motor development	6095	RORA	OMIM:618060
HP:0002194	Delayed gross motor development	4359	MPZ	OMIM:618184
HP:0002194	Delayed gross motor development	7528	YY1	ORPHA:506358
HP:0002194	Delayed gross motor development	8036	SHOC2	OMIM:607721
HP:0002194	Delayed gross motor development	26960	NBEA	OMIM:619157
HP:0002194	Delayed gross motor development	104	ADARB1	OMIM:618862
HP:0002194	Delayed gross motor development	9853	RUSC2	OMIM:617773
HP:0002194	Delayed gross motor development	23241	PACS2	OMIM:618067
HP:0002194	Delayed gross motor development	6659	SOX4	OMIM:618506
HP:0002194	Delayed gross motor development	7109	TRAPPC10	OMIM:620027
HP:0002194	Delayed gross motor development	3190	HNRNPK	ORPHA:453504
HP:0002194	Delayed gross motor development	3190	HNRNPK	ORPHA:352665
HP:0002194	Delayed gross motor development	2617	GARS1	OMIM:619042
HP:0002194	Delayed gross motor development	4983	OPHN1	OMIM:300486
HP:0002194	Delayed gross motor development	10743	RAI1	ORPHA:477817
HP:0002194	Delayed gross motor development	80232	WDR26	ORPHA:513456
HP:0002194	Delayed gross motor development	80232	WDR26	OMIM:617616
HP:0002194	Delayed gross motor development	54344	DPM3	OMIM:618992
HP:0002194	Delayed gross motor development	3020	H3-3A	OMIM:619720
HP:0002194	Delayed gross motor development	80816	ASXL3	OMIM:615485
HP:0002194	Delayed gross motor development	6576	SLC25A1	OMIM:618197
HP:0002194	Delayed gross motor development	4649	MYO9A	OMIM:618198
HP:0002194	Delayed gross motor development	6616	SNAP25	OMIM:616330
HP:0002194	Delayed gross motor development	283489	CHAMP1	OMIM:616579
HP:0002194	Delayed gross motor development	27245	AHDC1	ORPHA:412069
HP:0002194	Delayed gross motor development	55904	KMT2E	OMIM:618512
HP:0002194	Delayed gross motor development	10501	SEMA6B	OMIM:618876
HP:0002194	Delayed gross motor development	318	NUDT2	OMIM:619844
HP:0002194	Delayed gross motor development	128486	FITM2	OMIM:618635
HP:0002194	Delayed gross motor development	28960	DCPS	OMIM:616459
HP:0002194	Delayed gross motor development	27102	EIF2AK1	OMIM:618878
HP:0002194	Delayed gross motor development	23431	AP4E1	OMIM:613744
HP:0002194	Delayed gross motor development	25782	RAB3GAP2	OMIM:212720
HP:0002194	Delayed gross motor development	79158	GNPTAB	OMIM:252500
HP:0002194	Delayed gross motor development	9382	COG1	OMIM:611209
HP:0002194	Delayed gross motor development	2192	FBLN1	ORPHA:404451
HP:0002194	Delayed gross motor development	6595	SMARCA2	OMIM:619293
HP:0002194	Delayed gross motor development	8029	CUBN	ORPHA:35858
HP:0002194	Delayed gross motor development	81693	AMN	ORPHA:35858
HP:0002194	Delayed gross motor development	83696	TRAPPC9	OMIM:613192
HP:0002194	Delayed gross motor development	4001	LMNB1	OMIM:619179
HP:0002194	Delayed gross motor development	23321	TRIM2	OMIM:615490
HP:0002194	Delayed gross motor development	2590	GALNT2	OMIM:618885
HP:0002194	Delayed gross motor development	57492	ARID1B	OMIM:135900
HP:0002194	Delayed gross motor development	80204	FBXO11	OMIM:618089
HP:0002194	Delayed gross motor development	5119	CHMP1A	OMIM:614961
HP:0002194	Delayed gross motor development	815	CAMK2A	OMIM:617798
HP:0002194	Delayed gross motor development	7436	VLDLR	OMIM:224050
HP:0002194	Delayed gross motor development	2770	GNAI1	OMIM:619854
HP:0002194	Delayed gross motor development	23325	WASHC4	OMIM:615817
HP:0002194	Delayed gross motor development	10716	TBR1	OMIM:606053
HP:0002194	Delayed gross motor development	9839	ZEB2	ORPHA:261552
HP:0002194	Delayed gross motor development	9839	ZEB2	ORPHA:261537
HP:0002194	Delayed gross motor development	84823	LMNB2	OMIM:619180
HP:0002194	Delayed gross motor development	64919	BCL11B	OMIM:618092
HP:0002194	Delayed gross motor development	1303	COL12A1	OMIM:616471
HP:0002194	Delayed gross motor development	1303	COL12A1	ORPHA:536516
HP:0002194	Delayed gross motor development	55703	POLR3B	OMIM:619742
HP:0002194	Delayed gross motor development	23203	PMPCA	ORPHA:1170
HP:0002194	Delayed gross motor development	23203	PMPCA	OMIM:213200
HP:0002194	Delayed gross motor development	88	ACTN2	OMIM:618654
HP:0002194	Delayed gross motor development	5528	PPP2R5D	OMIM:616355
HP:0002194	Delayed gross motor development	5528	PPP2R5D	ORPHA:457279
HP:0002194	Delayed gross motor development	5833	PCYT2	OMIM:618770
HP:0002194	Delayed gross motor development	54872	PIGG	ORPHA:488635
HP:0002194	Delayed gross motor development	1954	MEGF8	OMIM:614976
HP:0002194	Delayed gross motor development	11160	ERLIN2	OMIM:611225
HP:0002194	Delayed gross motor development	6602	SMARCD1	OMIM:618779
HP:0002194	Delayed gross motor development	284439	SLC25A42	OMIM:618416
HP:0002194	Delayed gross motor development	9711	RUBCN	OMIM:615705
HP:0002194	Delayed gross motor development	1576	CYP3A4	OMIM:619073
HP:0002194	Delayed gross motor development	2615	LRRC32	OMIM:619074
HP:0002194	Delayed gross motor development	4953	ODC1	OMIM:619075
HP:0002194	Delayed gross motor development	7840	ALMS1	ORPHA:64
HP:0002194	Delayed gross motor development	10585	POMT1	OMIM:609308
HP:0002194	Delayed gross motor development	7809	BSND	ORPHA:89938
HP:0002194	Delayed gross motor development	1188	CLCNKB	ORPHA:89938
HP:0002194	Delayed gross motor development	1187	CLCNKA	ORPHA:89938
HP:0002194	Delayed gross motor development	113612	CYP2U1	OMIM:615030
HP:0002194	Delayed gross motor development	5251	PHEX	ORPHA:89936
HP:0002194	Delayed gross motor development	253738	EBF3	OMIM:617330
HP:0002194	Delayed gross motor development	55621	TRMT1	OMIM:618302
HP:0002194	Delayed gross motor development	10717	AP4B1	OMIM:614066
HP:0002194	Delayed gross motor development	11154	AP4S1	OMIM:614067
HP:0002194	Delayed gross motor development	7862	BRPF1	OMIM:617333
HP:0002194	Delayed gross motor development	5063	PAK3	OMIM:300558
HP:0002194	Delayed gross motor development	1182	CLCN3	OMIM:619517
HP:0002194	Delayed gross motor development	57863	CADM3	OMIM:619519
HP:0002194	Delayed gross motor development	92609	TIMM50	OMIM:617698
HP:0002194	Delayed gross motor development	92609	TIMM50	ORPHA:505216
HP:0002194	Delayed gross motor development	3098	HK1	OMIM:618547
HP:0002194	Delayed gross motor development	84720	PIGO	OMIM:614749
HP:0002194	Delayed gross motor development	1650	DDOST	OMIM:614507
HP:0002194	Delayed gross motor development	6638	SNRPN	OMIM:105830
HP:0002194	Delayed gross motor development	6638	SNRPN	ORPHA:411515
HP:0002194	Delayed gross motor development	7337	UBE3A	OMIM:105830
HP:0002194	Delayed gross motor development	7337	UBE3A	ORPHA:411515
HP:0002194	Delayed gross motor development	5354	PLP1	ORPHA:280219
HP:0002194	Delayed gross motor development	22859	ADGRL1	OMIM:620065
HP:0002194	Delayed gross motor development	6558	SLC12A2	OMIM:619083
HP:0002194	Delayed gross motor development	283209	PGM2L1	OMIM:620191
HP:0002194	Delayed gross motor development	2521	FUS	ORPHA:300605
HP:0002194	Delayed gross motor development	80208	SPG11	ORPHA:300605
HP:0002194	Delayed gross motor development	10280	SIGMAR1	ORPHA:300605
HP:0002194	Delayed gross motor development	10558	SPTLC1	ORPHA:300605
HP:0002194	Delayed gross motor development	57679	ALS2	ORPHA:300605
HP:0002194	Delayed gross motor development	9533	POLR1C	OMIM:616494
HP:0002194	Delayed gross motor development	6261	RYR1	OMIM:117000
HP:0002194	Delayed gross motor development	6261	RYR1	OMIM:619542
HP:0002194	Delayed gross motor development	53335	BCL11A	OMIM:617101
HP:0002194	Delayed gross motor development	9474	ATG5	OMIM:617584
HP:0002194	Delayed gross motor development	4849	CNOT3	OMIM:618672
HP:0002194	Delayed gross motor development	6942	TCF20	OMIM:618430
HP:0002194	Delayed gross motor development	2542	SLC37A4	OMIM:619525
HP:0002194	Delayed gross motor development	3708	ITPR1	OMIM:117360
HP:0002194	Delayed gross motor development	9772	TMEM94	OMIM:618316
HP:0002194	Delayed gross motor development	57104	PNPLA2	OMIM:610717
HP:0002194	Delayed gross motor development	10430	TMEM147	OMIM:620075
HP:0002194	Delayed gross motor development	11152	WDR45	OMIM:300894
HP:0002194	Delayed gross motor development	4677	NARS1	OMIM:619091
HP:0002194	Delayed gross motor development	4677	NARS1	OMIM:619092
HP:0002194	Delayed gross motor development	23162	MAPK8IP3	OMIM:618443
HP:0002194	Delayed gross motor development	9922	IQSEC1	OMIM:618687
HP:0002194	Delayed gross motor development	27086	FOXP1	OMIM:613670
HP:0002194	Delayed gross motor development	55149	MTPAP	OMIM:613672
HP:0002194	Delayed gross motor development	7994	KAT6A	OMIM:616268
HP:0002194	Delayed gross motor development	23499	MACF1	OMIM:618325
HP:0002194	Delayed gross motor development	9725	TMEM63A	OMIM:618688
HP:0002194	Delayed gross motor development	1107	CHD3	OMIM:618205
HP:0002194	Delayed gross motor development	6567	SLC16A2	ORPHA:59
HP:0002194	Delayed gross motor development	1387	CREBBP	OMIM:618332
HP:0002194	Delayed gross motor development	2033	EP300	OMIM:618333
HP:0002194	Delayed gross motor development	10533	ATG7	OMIM:619422
HP:0002194	Delayed gross motor development	8295	TRRAP	OMIM:618454
HP:0002194	Delayed gross motor development	54903	MKS1	OMIM:249000
HP:0002194	Delayed gross motor development	8621	CDK13	OMIM:617360
HP:0002194	Delayed gross motor development	5888	RAD51	OMIM:617244
HP:0002194	Delayed gross motor development	22930	RAB3GAP1	OMIM:619420
HP:0002194	Delayed gross motor development	4208	MEF2C	OMIM:613443
HP:0002194	Delayed gross motor development	22907	DHX30	OMIM:617804
HP:0002194	Delayed gross motor development	6857	SYT1	OMIM:618218
HP:0002194	Delayed gross motor development	81603	TRIM8	OMIM:619428
HP:0002194	Delayed gross motor development	23534	TNPO3	OMIM:608423
HP:0002194	Delayed gross motor development	9230	RAB11B	OMIM:617807
HP:0002194	Delayed gross motor development	8905	AP1S2	OMIM:304340
HP:0002194	Delayed gross motor development	2902	GRIN1	ORPHA:208447
HP:0002194	Delayed gross motor development	10075	HUWE1	OMIM:309590
HP:0002194	Delayed gross motor development	55906	ZC4H2	OMIM:301041
HP:0002194	Delayed gross motor development	8243	SMC1A	OMIM:301044
HP:0002194	Delayed gross motor development	6134	RPL10	OMIM:300998
HP:0002194	Delayed gross motor development	1281	COL3A1	OMIM:618343
HP:0002194	Delayed gross motor development	5898	RALA	OMIM:619311
HP:0002194	Delayed gross motor development	79879	CCDC134	OMIM:619795
HP:0002194	Delayed gross motor development	1499	CTNNB1	OMIM:615075
HP:0002194	Delayed gross motor development	9759	HDAC4	OMIM:619797
HP:0002194	Delayed gross motor development	5351	PLOD1	OMIM:225400
HP:0002194	Delayed gross motor development	56896	DPYSL5	OMIM:619435
HP:0002194	Delayed gross motor development	54892	NCAPG2	OMIM:618460
HP:0002194	Delayed gross motor development	1778	DYNC1H1	OMIM:158600
HP:0002194	Delayed gross motor development	160418	TMTC3	OMIM:617255
HP:0002194	Delayed gross motor development	54517	PUS7	OMIM:618342
HP:0002194	Delayed gross motor development	124997	WDR81	OMIM:610185
HP:0002194	Delayed gross motor development	10765	KDM5B	OMIM:618109
HP:0002194	Delayed gross motor development	2290	FOXG1	OMIM:613454
HP:0002194	Delayed gross motor development	8573	CASK	OMIM:300749
HP:0002194	Delayed gross motor development	10785	WDR4	OMIM:618347
HP:0002194	Delayed gross motor development	55628	ZNF407	OMIM:619557
HP:0002194	Delayed gross motor development	8924	HERC2	OMIM:615516
HP:0002194	Delayed gross motor development	6418	SET	OMIM:618106
HP:0002194	Delayed gross motor development	56623	INPP5E	OMIM:213300
HP:0002194	Delayed gross motor development	5279	PIGC	OMIM:617816
HP:0002194	Delayed gross motor development	22845	DOLK	ORPHA:91131
HP:0002194	Delayed gross motor development	1605	DAG1	ORPHA:370997
HP:0002194	Delayed gross motor development	7707	ZNF148	OMIM:617260
HP:0002194	Delayed gross motor development	6548	SLC9A1	OMIM:616291
HP:0002194	Delayed gross motor development	10847	SRCAP	OMIM:136140
HP:0002194	Delayed gross motor development	5515	PPP2CA	OMIM:618354
HP:0002194	Delayed gross motor development	60482	SLC5A7	OMIM:617143
HP:0002194	Delayed gross motor development	23114	NFASC	OMIM:618356
HP:0002194	Delayed gross motor development	57520	HECW2	OMIM:617268
HP:0002194	Delayed gross motor development	55209	SETD5	OMIM:615761
HP:0002194	Delayed gross motor development	63895	PIEZO2	OMIM:617146
HP:0002194	Delayed gross motor development	80347	COASY	OMIM:615643
HP:0002194	Delayed gross motor development	3097	HIVEP2	OMIM:616977
HP:0002194	Delayed gross motor development	5010	CLDN11	OMIM:619328
HP:0002194	Delayed gross motor development	55033	FKBP14	OMIM:614557
HP:0002194	Delayed gross motor development	26224	FBXL3	OMIM:606220
HP:0002194	Delayed gross motor development	84679	SLC9A7	OMIM:301024
HP:0002194	Delayed gross motor development	90161	HS6ST2	OMIM:301025
HP:0002194	Delayed gross motor development	5934	RBL2	OMIM:619690
HP:0002194	Delayed gross motor development	1725	DHPS	OMIM:618480
HP:0002194	Delayed gross motor development	57190	SELENON	OMIM:602771
HP:0002194	Delayed gross motor development	4694	NDUFA1	OMIM:301020
HP:0002194	Delayed gross motor development	4784	NFIX	OMIM:602535
HP:0002194	Delayed gross motor development	10735	STAG2	OMIM:301022
HP:0002194	Delayed gross motor development	55967	NDUFA12	OMIM:618244
HP:0002194	Delayed gross motor development	8888	MCM3AP	OMIM:618124
HP:0002194	Delayed gross motor development	79641	ROGDI	OMIM:226750
HP:0002194	Delayed gross motor development	54496	PRMT7	OMIM:617157
HP:0002194	Delayed gross motor development	23345	SYNE1	OMIM:618484
HP:0002194	Delayed gross motor development	182	JAG1	OMIM:619574
HP:0002194	Delayed gross motor development	8120	AP3B2	OMIM:617276
HP:0002194	Delayed gross motor development	267010	RNU12	OMIM:620208
HP:0002194	Delayed gross motor development	10342	TFG	OMIM:615658
HP:0002194	Delayed gross motor development	84188	FAR1	OMIM:619338
HP:0002194	Delayed gross motor development	64131	XYLT1	OMIM:615777
HP:0002194	Delayed gross motor development	1737	DLAT	ORPHA:79244
HP:0002194	Delayed gross motor development	51608	GET4	OMIM:620200
HP:0002194	Delayed gross motor development	20	ABCA2	OMIM:618808
HP:0002194	Delayed gross motor development	128989	TANGO2	ORPHA:480864
HP:0002194	Delayed gross motor development	54806	AHI1	OMIM:608629
HP:0002194	Delayed gross motor development	51185	CRBN	OMIM:607417
HP:0002194	Delayed gross motor development	2898	GRIK2	OMIM:619580
HP:0002194	Delayed gross motor development	80311	KLHL15	OMIM:300982
HP:0002194	Delayed gross motor development	1781	DYNC1I2	OMIM:618492
HP:0002194	Delayed gross motor development	10943	MSL3	OMIM:301032
HP:0002194	Delayed gross motor development	6390	SDHB	OMIM:619224
HP:0002194	Delayed gross motor development	23028	KDM1A	ORPHA:477993
HP:0002194	Delayed gross motor development	63931	MRPS14	OMIM:618378
HP:0002194	Delayed gross motor development	22808	MRAS	OMIM:618499
HP:0002194	Delayed gross motor development	9758	FRMPD4	OMIM:300983
HP:0002194	Delayed gross motor development	54681	P4HTM	OMIM:618493
HP:0002194	Delayed gross motor development	80185	TTI2	OMIM:615541
HP:0002194	Delayed gross motor development	4761	NEUROD2	OMIM:618374
HP:0002194	Delayed gross motor development	523	ATP6V1A	OMIM:618012
HP:0002194	Delayed gross motor development	54664	TMEM106B	OMIM:617964
HP:0002194	Delayed gross motor development	3908	LAMA2	OMIM:618138
HP:0002194	Delayed gross motor development	6304	SATB1	OMIM:619229
HP:0002194	Delayed gross motor development	84668	HYCC1	OMIM:610532
HP:0002194	Delayed gross motor development	3930	LBR	OMIM:618019
HP:0002194	Delayed gross motor development	54551	MAGEL2	OMIM:615547
HP:0002194	Delayed gross motor development	28982	FLVCR1	OMIM:609033
HP:0002194	Delayed gross motor development	84065	TMEM222	OMIM:619470
HP:0002194	Delayed gross motor development	5977	DPF2	OMIM:618027
HP:0002194	Delayed gross motor development	27107	ZBTB11	OMIM:618383
HP:0002194	Delayed gross motor development	22866	CNKSR2	OMIM:301008
HP:0002194	Delayed gross motor development	10815	CPLX1	OMIM:617976
HP:0002194	Delayed gross motor development	7204	TRIO	OMIM:618825
HP:0002194	Delayed gross motor development	7204	TRIO	OMIM:617061
HP:0002194	Delayed gross motor development	2588	GALNS	OMIM:253000
HP:0002194	Delayed gross motor development	23040	MYT1L	OMIM:616521
HP:0002194	Delayed gross motor development	3839	KPNA3	OMIM:620106
HP:0002194	Delayed gross motor development	8452	CUL3	OMIM:619239
HP:0002194	Delayed gross motor development	10283	CWC27	OMIM:250410
HP:0002194	Delayed gross motor development	80036	TRPM3	OMIM:620224
HP:0002194	Delayed gross motor development	8405	SPOP	OMIM:618828
HP:0002194	Delayed gross motor development	8405	SPOP	OMIM:618829
HP:0002194	Delayed gross motor development	8936	WASF1	OMIM:618707
HP:0002194	Delayed gross motor development	26047	CNTNAP2	ORPHA:163681
HP:0002194	Delayed gross motor development	1457	CSNK2A1	OMIM:617062
HP:0002194	Delayed gross motor development	84197	POMK	OMIM:616094
HP:0002194	Delayed gross motor development	4841	NONO	OMIM:300967
HP:0002194	Delayed gross motor development	5058	PAK1	OMIM:618158
HP:0002194	Delayed gross motor development	200894	ARL13B	OMIM:612291
HP:0002194	Delayed gross motor development	6472	SHMT2	OMIM:619121
HP:0002194	Delayed gross motor development	23233	EXOC6B	OMIM:618395
HP:0002194	Delayed gross motor development	28952	CCDC22	OMIM:300963
HP:0002194	Delayed gross motor development	79143	MBOAT7	OMIM:617188
HP:0002194	Delayed gross motor development	57688	ZSWIM6	OMIM:617865
HP:0002194	Delayed gross motor development	2893	GRIA4	OMIM:617864
HP:0002194	Delayed gross motor development	271	AMPD2	OMIM:615686
HP:0002194	Delayed gross motor development	9215	LARGE1	OMIM:608840
HP:0002194	Delayed gross motor development	4047	LSS	OMIM:618840
HP:0002194	Delayed gross motor development	6571	SLC18A2	OMIM:618049
HP:0002194	Delayed gross motor development	54802	TRIT1	OMIM:617873
HP:0002194	Delayed gross motor development	23154	NCDN	OMIM:619373
HP:0002194	Delayed gross motor development	1315	COPB1	OMIM:619255
HP:0002194	Delayed gross motor development	51780	KDM3B	OMIM:618846
HP:0002194	Delayed gross motor development	1073	CFL2	OMIM:610687
HP:0002194	Delayed gross motor development	5430	POLR2A	OMIM:618603
HP:0002194	Delayed gross motor development	81615	TMEM163	OMIM:620243
HP:0002194	Delayed gross motor development	64802	NMNAT1	OMIM:619260
HP:0002194	Delayed gross motor development	1795	DOCK3	OMIM:618292
HP:0002194	Delayed gross motor development	11133	KPTN	ORPHA:397612
HP:0002194	Delayed gross motor development	3735	KARS1	OMIM:619147
HP:0002194	Delayed gross motor development	8665	EIF3F	OMIM:618295
HP:0002194	Delayed gross motor development	221927	BRAT1	OMIM:618056
HP:0002194	Delayed gross motor development	4281	MID1	ORPHA:2745
HP:0002194	Delayed gross motor development	1140	CHRNB1	OMIM:616313
HP:0002194	Delayed gross motor development	1460	CSNK2B	OMIM:618732
HP:0002194	Delayed gross motor development	22868	FASTKD2	OMIM:618855
HP:0002194	Delayed gross motor development	57194	ATP10A	ORPHA:411515
HP:0002194	Delayed gross motor development	4702	NDUFA8	OMIM:619272
HP:0002194	Delayed gross motor development	4204	MECP2	OMIM:300260
HP:0002194	Delayed gross motor development	57020	VPS35L	OMIM:619135
HP:0002194	Delayed gross motor development	64432	MRPS25	OMIM:619025
HP:0002194	Delayed gross motor development	90522	YIF1B	OMIM:619125
HP:0002194	Delayed gross motor development	129685	TAF8	OMIM:619972
HP:0002194	Delayed gross motor development	6651	SON	OMIM:617140
HP:0002194	Delayed gross motor development	10659	CELF2	OMIM:619561
HP:0002194	Delayed gross motor development	111	ADCY5	OMIM:619651
HP:0002194	Delayed gross motor development	535	ATP6V0A1	OMIM:619970
HP:0002194	Delayed gross motor development	80055	PGAP1	OMIM:615802
HP:0002194	Delayed gross motor development	8604	SLC25A12	OMIM:612949
HP:0002195	Dysgenesis of the cerebellar vermis	79848	CSPP1	ORPHA:397715
HP:0002195	Dysgenesis of the cerebellar vermis	9786	KIAA0586	ORPHA:397715
HP:0002195	Dysgenesis of the cerebellar vermis	4953	ODC1	OMIM:619075
HP:0002195	Dysgenesis of the cerebellar vermis	51259	TMEM216	OMIM:608091
HP:0002195	Dysgenesis of the cerebellar vermis	56623	INPP5E	OMIM:213300
HP:0002195	Dysgenesis of the cerebellar vermis	9851	KIAA0753	OMIM:619479
HP:0002195	Dysgenesis of the cerebellar vermis	5879	RAC1	OMIM:617751
HP:0002196	Myelopathy	128240	NAXE	OMIM:617186
HP:0002196	Myelopathy	215	ABCD1	ORPHA:139396
HP:0002196	Myelopathy	1593	CYP27A1	ORPHA:909
HP:0002196	Myelopathy	22943	DKK1	ORPHA:268882
HP:0002196	Myelopathy	5921	RASA1	ORPHA:90307
HP:0002196	Myelopathy	686	BTD	ORPHA:79241
HP:0002196	Myelopathy	4771	NF2	ORPHA:637
HP:0002196	Myelopathy	79158	GNPTAB	OMIM:252500
HP:0002196	Myelopathy	2720	GLB1	OMIM:253010
HP:0002196	Myelopathy	2131	EXT1	ORPHA:321
HP:0002196	Myelopathy	2131	EXT1	OMIM:133700
HP:0002196	Myelopathy	2132	EXT2	ORPHA:321
HP:0002196	Myelopathy	2132	EXT2	OMIM:133701
HP:0002196	Myelopathy	2588	GALNS	OMIM:253000
HP:0002196	Myelopathy	64802	NMNAT1	OMIM:619260
HP:0002196	Myelopathy	1280	COL2A1	OMIM:183900
HP:0002196	Myelopathy	411	ARSB	OMIM:253200
HP:0002197	Generalized-onset seizure	84706	GPT2	OMIM:616281
HP:0002197	Generalized-onset seizure	4791	NFKB2	ORPHA:293978
HP:0002197	Generalized-onset seizure	26960	NBEA	OMIM:619157
HP:0002197	Generalized-onset seizure	8733	GPAA1	OMIM:617810
HP:0002197	Generalized-onset seizure	781	CACNA2D1	OMIM:620149
HP:0002197	Generalized-onset seizure	6334	SCN8A	ORPHA:306
HP:0002197	Generalized-onset seizure	6334	SCN8A	OMIM:614558
HP:0002197	Generalized-onset seizure	3785	KCNQ2	ORPHA:306
HP:0002197	Generalized-onset seizure	79813	EHMT1	ORPHA:96147
HP:0002197	Generalized-onset seizure	80232	WDR26	ORPHA:513456
HP:0002197	Generalized-onset seizure	54344	DPM3	OMIM:618992
HP:0002197	Generalized-onset seizure	5515	PPP2CA	OMIM:618354
HP:0002197	Generalized-onset seizure	24137	KIF4A	OMIM:300923
HP:0002197	Generalized-onset seizure	6096	RORB	OMIM:618357
HP:0002197	Generalized-onset seizure	478	ATP1A3	OMIM:619606
HP:0002197	Generalized-onset seizure	2782	GNB1	OMIM:616973
HP:0002197	Generalized-onset seizure	7532	YWHAG	OMIM:617665
HP:0002197	Generalized-onset seizure	80055	PGAP1	OMIM:615802
HP:0002197	Generalized-onset seizure	1476	CSTB	OMIM:254800
HP:0002197	Generalized-onset seizure	3908	LAMA2	ORPHA:258
HP:0002197	Generalized-onset seizure	7846	TUBA1A	ORPHA:467166
HP:0002197	Generalized-onset seizure	10381	TUBB3	ORPHA:467166
HP:0002197	Generalized-onset seizure	6609	SMPD1	ORPHA:77293
HP:0002197	Generalized-onset seizure	3899	AFF3	OMIM:619297
HP:0002197	Generalized-onset seizure	80224	NUBPL	OMIM:618242
HP:0002197	Generalized-onset seizure	79029	AFG2B	OMIM:619616
HP:0002197	Generalized-onset seizure	815	CAMK2A	OMIM:617798
HP:0002197	Generalized-onset seizure	2664	GDI1	OMIM:300849
HP:0002197	Generalized-onset seizure	2770	GNAI1	OMIM:619854
HP:0002197	Generalized-onset seizure	27315	PGAP2	OMIM:614207
HP:0002197	Generalized-onset seizure	84188	FAR1	OMIM:619338
HP:0002197	Generalized-onset seizure	1183	CLCN4	ORPHA:485350
HP:0002197	Generalized-onset seizure	23327	NEDD4L	OMIM:617201
HP:0002197	Generalized-onset seizure	23152	CIC	OMIM:617600
HP:0002197	Generalized-onset seizure	4915	NTRK2	OMIM:613886
HP:0002197	Generalized-onset seizure	1954	MEGF8	OMIM:614976
HP:0002197	Generalized-onset seizure	6304	SATB1	OMIM:619229
HP:0002197	Generalized-onset seizure	2903	GRIN2A	ORPHA:98818
HP:0002197	Generalized-onset seizure	5063	PAK3	OMIM:300558
HP:0002197	Generalized-onset seizure	3747	KCNC2	OMIM:619913
HP:0002197	Generalized-onset seizure	23443	SLC35A3	OMIM:615553
HP:0002197	Generalized-onset seizure	23443	SLC35A3	ORPHA:370943
HP:0002197	Generalized-onset seizure	23040	MYT1L	OMIM:616521
HP:0002197	Generalized-onset seizure	85440	DOCK7	ORPHA:411986
HP:0002197	Generalized-onset seizure	80036	TRPM3	OMIM:620224
HP:0002197	Generalized-onset seizure	57459	GATAD2B	ORPHA:363686
HP:0002197	Generalized-onset seizure	6595	SMARCA2	ORPHA:3051
HP:0002197	Generalized-onset seizure	55210	ATAD3A	OMIM:617183
HP:0002197	Generalized-onset seizure	10472	ZBTB18	OMIM:612337
HP:0002197	Generalized-onset seizure	23031	MAST3	OMIM:620115
HP:0002197	Generalized-onset seizure	2556	GABRA3	OMIM:301091
HP:0002197	Generalized-onset seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0002197	Generalized-onset seizure	2146	EZH2	OMIM:277590
HP:0002197	Generalized-onset seizure	1719	DHFR	OMIM:613839
HP:0002197	Generalized-onset seizure	54936	ADPRS	OMIM:618170
HP:0002197	Generalized-onset seizure	1893	ECM1	OMIM:247100
HP:0002197	Generalized-onset seizure	8621	CDK13	OMIM:617360
HP:0002197	Generalized-onset seizure	93183	PIGM	OMIM:610293
HP:0002197	Generalized-onset seizure	93587	TRMT10A	OMIM:616033
HP:0002197	Generalized-onset seizure	2702	GJA5	OMIM:612474
HP:0002197	Generalized-onset seizure	2703	GJA8	OMIM:612474
HP:0002197	Generalized-onset seizure	3736	KCNA1	ORPHA:1934
HP:0002197	Generalized-onset seizure	9091	PIGQ	ORPHA:1934
HP:0002197	Generalized-onset seizure	2775	GNAO1	ORPHA:1934
HP:0002197	Generalized-onset seizure	81603	TRIM8	ORPHA:1934
HP:0002197	Generalized-onset seizure	8573	CASK	ORPHA:1934
HP:0002197	Generalized-onset seizure	23312	DMXL2	ORPHA:1934
HP:0002197	Generalized-onset seizure	2917	GRM7	ORPHA:1934
HP:0002197	Generalized-onset seizure	11284	PNKP	ORPHA:1934
HP:0002197	Generalized-onset seizure	51227	PIGP	ORPHA:1934
HP:0002197	Generalized-onset seizure	4761	NEUROD2	ORPHA:1934
HP:0002197	Generalized-onset seizure	401474	SAMD12	OMIM:601068
HP:0002197	Generalized-onset seizure	4558	MT-TF	ORPHA:551
HP:0002197	Generalized-onset seizure	4558	MT-TF	OMIM:545000
HP:0002197	Generalized-onset seizure	4567	MT-TL1	ORPHA:551
HP:0002197	Generalized-onset seizure	4567	MT-TL1	ORPHA:255210
HP:0002197	Generalized-onset seizure	4567	MT-TL1	OMIM:545000
HP:0002197	Generalized-onset seizure	4549	MT-RNR1	ORPHA:551
HP:0002197	Generalized-onset seizure	4574	MT-TS1	ORPHA:551
HP:0002197	Generalized-onset seizure	4575	MT-TS2	ORPHA:551
HP:0002197	Generalized-onset seizure	4571	MT-TP	ORPHA:551
HP:0002197	Generalized-onset seizure	4571	MT-TP	OMIM:545000
HP:0002197	Generalized-onset seizure	4572	MT-TQ	ORPHA:551
HP:0002197	Generalized-onset seizure	4540	MT-ND5	ORPHA:551
HP:0002197	Generalized-onset seizure	4540	MT-ND5	ORPHA:255210
HP:0002197	Generalized-onset seizure	4566	MT-TK	ORPHA:551
HP:0002197	Generalized-onset seizure	4566	MT-TK	ORPHA:255210
HP:0002197	Generalized-onset seizure	4566	MT-TK	OMIM:545000
HP:0002197	Generalized-onset seizure	4564	MT-TH	ORPHA:551
HP:0002197	Generalized-onset seizure	6323	SCN1A	OMIM:607208
HP:0002197	Generalized-onset seizure	6323	SCN1A	ORPHA:2382
HP:0002197	Generalized-onset seizure	6323	SCN1A	ORPHA:36387
HP:0002197	Generalized-onset seizure	6323	SCN1A	ORPHA:33069
HP:0002197	Generalized-onset seizure	6323	SCN1A	OMIM:604403
HP:0002197	Generalized-onset seizure	6323	SCN1A	ORPHA:1942
HP:0002197	Generalized-onset seizure	57526	PCDH19	ORPHA:101039
HP:0002197	Generalized-onset seizure	57526	PCDH19	OMIM:300088
HP:0002197	Generalized-onset seizure	57526	PCDH19	ORPHA:33069
HP:0002197	Generalized-onset seizure	10059	DNM1L	ORPHA:330050
HP:0002197	Generalized-onset seizure	7915	ALDH5A1	ORPHA:22
HP:0002197	Generalized-onset seizure	7915	ALDH5A1	OMIM:271980
HP:0002197	Generalized-onset seizure	4524	MTHFR	ORPHA:395
HP:0002197	Generalized-onset seizure	340533	NEXMIF	OMIM:300912
HP:0002197	Generalized-onset seizure	340533	NEXMIF	ORPHA:1942
HP:0002197	Generalized-onset seizure	57468	SLC12A5	OMIM:616685
HP:0002197	Generalized-onset seizure	1859	DYRK1A	ORPHA:268261
HP:0002197	Generalized-onset seizure	343450	KCNT2	OMIM:617771
HP:0002197	Generalized-onset seizure	8818	DPM2	ORPHA:329178
HP:0002197	Generalized-onset seizure	2720	GLB1	OMIM:230600
HP:0002197	Generalized-onset seizure	2896	GRN	OMIM:614706
HP:0002197	Generalized-onset seizure	170302	ARX	OMIM:308350
HP:0002197	Generalized-onset seizure	4758	NEU1	ORPHA:93399
HP:0002197	Generalized-onset seizure	64324	NSD1	ORPHA:821
HP:0002197	Generalized-onset seizure	29072	SETD2	ORPHA:821
HP:0002197	Generalized-onset seizure	10297	APC2	ORPHA:821
HP:0002197	Generalized-onset seizure	57465	TBC1D24	OMIM:605021
HP:0002197	Generalized-onset seizure	57465	TBC1D24	ORPHA:352596
HP:0002197	Generalized-onset seizure	57465	TBC1D24	ORPHA:352582
HP:0002197	Generalized-onset seizure	501	ALDH7A1	OMIM:266100
HP:0002197	Generalized-onset seizure	4535	MT-ND1	ORPHA:255210
HP:0002197	Generalized-onset seizure	4536	MT-ND2	ORPHA:255210
HP:0002197	Generalized-onset seizure	4537	MT-ND3	ORPHA:255210
HP:0002197	Generalized-onset seizure	4538	MT-ND4	ORPHA:255210
HP:0002197	Generalized-onset seizure	4578	MT-TW	ORPHA:255210
HP:0002197	Generalized-onset seizure	4577	MT-TV	ORPHA:255210
HP:0002197	Generalized-onset seizure	4508	MT-ATP6	ORPHA:255210
HP:0002197	Generalized-onset seizure	4541	MT-ND6	ORPHA:255210
HP:0002197	Generalized-onset seizure	6792	CDKL5	ORPHA:3095
HP:0002197	Generalized-onset seizure	6792	CDKL5	OMIM:300672
HP:0002197	Generalized-onset seizure	22854	NTNG1	ORPHA:3095
HP:0002197	Generalized-onset seizure	9568	GABBR2	ORPHA:3095
HP:0002197	Generalized-onset seizure	4204	MECP2	ORPHA:3095
HP:0002197	Generalized-onset seizure	8243	SMC1A	ORPHA:3095
HP:0002197	Generalized-onset seizure	2593	GAMT	ORPHA:382
HP:0002197	Generalized-onset seizure	2563	GABRD	OMIM:613060
HP:0002197	Generalized-onset seizure	2563	GABRD	ORPHA:36387
HP:0002197	Generalized-onset seizure	79587	CARS2	ORPHA:477774
HP:0002197	Generalized-onset seizure	1106	CHD2	OMIM:615369
HP:0002197	Generalized-onset seizure	1106	CHD2	ORPHA:2382
HP:0002197	Generalized-onset seizure	1106	CHD2	ORPHA:1942
HP:0002197	Generalized-onset seizure	55768	NGLY1	ORPHA:404454
HP:0002197	Generalized-onset seizure	54820	NDE1	OMIM:605013
HP:0002197	Generalized-onset seizure	3767	KCNJ11	ORPHA:99885
HP:0002197	Generalized-onset seizure	6774	STAT3	ORPHA:99885
HP:0002197	Generalized-onset seizure	2645	GCK	ORPHA:99885
HP:0002197	Generalized-onset seizure	3651	PDX1	ORPHA:99885
HP:0002197	Generalized-onset seizure	6833	ABCC8	ORPHA:99885
HP:0002197	Generalized-onset seizure	3630	INS	ORPHA:99885
HP:0002197	Generalized-onset seizure	154881	KCTD7	OMIM:611726
HP:0002197	Generalized-onset seizure	10166	SLC25A15	ORPHA:415
HP:0002197	Generalized-onset seizure	10166	SLC25A15	OMIM:238970
HP:0002197	Generalized-onset seizure	427	ASAH1	OMIM:159950
HP:0002197	Generalized-onset seizure	427	ASAH1	ORPHA:2590
HP:0002197	Generalized-onset seizure	4694	NDUFA1	OMIM:301020
HP:0002197	Generalized-onset seizure	150094	SIK1	OMIM:616341
HP:0002197	Generalized-onset seizure	150094	SIK1	ORPHA:1935
HP:0002197	Generalized-onset seizure	116150	NUS1	OMIM:617831
HP:0002197	Generalized-onset seizure	79947	DHDDS	OMIM:617836
HP:0002197	Generalized-onset seizure	686	BTD	ORPHA:79241
HP:0002197	Generalized-onset seizure	10939	AFG3L2	ORPHA:313772
HP:0002197	Generalized-onset seizure	10939	AFG3L2	OMIM:614487
HP:0002197	Generalized-onset seizure	128989	TANGO2	ORPHA:480864
HP:0002197	Generalized-onset seizure	57531	HACE1	ORPHA:464282
HP:0002197	Generalized-onset seizure	57531	HACE1	OMIM:616756
HP:0002197	Generalized-onset seizure	80856	LNPK	OMIM:618090
HP:0002197	Generalized-onset seizure	51651	PTRH2	ORPHA:456312
HP:0002197	Generalized-onset seizure	1759	DNM1	ORPHA:2382
HP:0002197	Generalized-onset seizure	2562	GABRB3	ORPHA:2382
HP:0002197	Generalized-onset seizure	5602	MAPK10	ORPHA:2382
HP:0002197	Generalized-onset seizure	773	CACNA1A	ORPHA:2382
HP:0002197	Generalized-onset seizure	23316	CUX2	ORPHA:2382
HP:0002197	Generalized-onset seizure	23316	CUX2	OMIM:618141
HP:0002197	Generalized-onset seizure	4565	MT-TI	OMIM:545000
HP:0002197	Generalized-onset seizure	5277	PIGA	OMIM:300868
HP:0002197	Generalized-onset seizure	83696	TRAPPC9	ORPHA:352530
HP:0002197	Generalized-onset seizure	6785	ELOVL4	OMIM:614457
HP:0002197	Generalized-onset seizure	26227	PHGDH	ORPHA:79351
HP:0002197	Generalized-onset seizure	144165	PRICKLE1	OMIM:612437
HP:0002197	Generalized-onset seizure	6335	SCN9A	ORPHA:36387
HP:0002197	Generalized-onset seizure	6335	SCN9A	ORPHA:33069
HP:0002197	Generalized-onset seizure	112755	STX1B	ORPHA:36387
HP:0002197	Generalized-onset seizure	6326	SCN2A	ORPHA:36387
HP:0002197	Generalized-onset seizure	6326	SCN2A	ORPHA:33069
HP:0002197	Generalized-onset seizure	6324	SCN1B	ORPHA:36387
HP:0002197	Generalized-onset seizure	6324	SCN1B	ORPHA:33069
HP:0002197	Generalized-onset seizure	6324	SCN1B	OMIM:617350
HP:0002197	Generalized-onset seizure	348980	HCN1	ORPHA:36387
HP:0002197	Generalized-onset seizure	84059	ADGRV1	ORPHA:36387
HP:0002197	Generalized-onset seizure	2566	GABRG2	ORPHA:36387
HP:0002197	Generalized-onset seizure	2566	GABRG2	ORPHA:33069
HP:0002197	Generalized-onset seizure	2629	GBA1	OMIM:231000
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:2072
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:77261
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:77260
HP:0002197	Generalized-onset seizure	1798	DPAGT1	ORPHA:86309
HP:0002197	Generalized-onset seizure	6611	SMS	ORPHA:3063
HP:0002197	Generalized-onset seizure	57061	HYMAI	ORPHA:96191
HP:0002197	Generalized-onset seizure	5325	PLAGL1	ORPHA:96191
HP:0002197	Generalized-onset seizure	56978	PRDM8	OMIM:616640
HP:0002197	Generalized-onset seizure	6812	STXBP1	OMIM:612164
HP:0002197	Generalized-onset seizure	51604	PIGT	ORPHA:369837
HP:0002197	Generalized-onset seizure	10815	CPLX1	OMIM:617976
HP:0002197	Generalized-onset seizure	10815	CPLX1	ORPHA:352582
HP:0002197	Generalized-onset seizure	4983	OPHN1	ORPHA:137831
HP:0002197	Generalized-onset seizure	79751	SLC25A22	OMIM:609304
HP:0002197	Generalized-onset seizure	79751	SLC25A22	ORPHA:1935
HP:0002197	Generalized-onset seizure	2554	GABRA1	ORPHA:33069
HP:0002197	Generalized-onset seizure	378884	NHLRC1	ORPHA:501
HP:0002197	Generalized-onset seizure	378884	NHLRC1	OMIM:254780
HP:0002197	Generalized-onset seizure	7957	EPM2A	ORPHA:501
HP:0002197	Generalized-onset seizure	7957	EPM2A	OMIM:254780
HP:0002197	Generalized-onset seizure	5293	PIK3CD	ORPHA:221139
HP:0002197	Generalized-onset seizure	5293	PIK3CD	OMIM:613328
HP:0002197	Generalized-onset seizure	90417	KNSTRN	ORPHA:221139
HP:0002197	Generalized-onset seizure	90417	KNSTRN	OMIM:613328
HP:0002197	Generalized-onset seizure	9289	ADGRG1	ORPHA:101070
HP:0002197	Generalized-onset seizure	5728	PTEN	ORPHA:101070
HP:0002197	Generalized-onset seizure	51124	IER3IP1	OMIM:614231
HP:0002197	Generalized-onset seizure	10991	SLC38A3	OMIM:619881
HP:0002197	Generalized-onset seizure	79143	MBOAT7	OMIM:617188
HP:0002197	Generalized-onset seizure	283989	TSEN54	ORPHA:2524
HP:0002197	Generalized-onset seizure	116461	TSEN15	ORPHA:2524
HP:0002197	Generalized-onset seizure	79042	TSEN34	ORPHA:2524
HP:0002197	Generalized-onset seizure	80746	TSEN2	ORPHA:2524
HP:0002197	Generalized-onset seizure	51091	SEPSECS	ORPHA:2524
HP:0002197	Generalized-onset seizure	256471	MFSD8	OMIM:610951
HP:0002197	Generalized-onset seizure	114327	EFHC1	OMIM:607631
HP:0002197	Generalized-onset seizure	1181	CLCN2	OMIM:607628
HP:0002197	Generalized-onset seizure	54802	TRIT1	OMIM:617873
HP:0002197	Generalized-onset seizure	84823	LMNB2	OMIM:616540
HP:0002197	Generalized-onset seizure	6389	SDHA	ORPHA:3208
HP:0002197	Generalized-onset seizure	6390	SDHB	ORPHA:3208
HP:0002197	Generalized-onset seizure	6392	SDHD	ORPHA:3208
HP:0002197	Generalized-onset seizure	644096	SDHAF1	ORPHA:3208
HP:0002197	Generalized-onset seizure	51294	PCDH12	OMIM:251280
HP:0002197	Generalized-onset seizure	2055	CLN8	ORPHA:1947
HP:0002197	Generalized-onset seizure	2581	GALC	ORPHA:206436
HP:0002197	Generalized-onset seizure	5660	PSAP	ORPHA:206436
HP:0002197	Generalized-onset seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002197	Generalized-onset seizure	8813	DPM1	ORPHA:79322
HP:0002197	Generalized-onset seizure	6513	SLC2A1	ORPHA:1942
HP:0002197	Generalized-onset seizure	8831	SYNGAP1	ORPHA:1942
HP:0002197	Generalized-onset seizure	1173	AP2M1	ORPHA:1942
HP:0002197	Generalized-onset seizure	6529	SLC6A1	ORPHA:1942
HP:0002197	Generalized-onset seizure	701	BUB1B	OMIM:257300
HP:0002197	Generalized-onset seizure	10243	GPHN	OMIM:615501
HP:0002197	Generalized-onset seizure	221927	BRAT1	OMIM:614498
HP:0002197	Generalized-onset seizure	22858	CILK1	OMIM:617924
HP:0002197	Generalized-onset seizure	2902	GRIN1	ORPHA:208447
HP:0002197	Generalized-onset seizure	1203	CLN5	ORPHA:228360
HP:0002197	Generalized-onset seizure	2137	EXTL3	ORPHA:508533
HP:0002197	Generalized-onset seizure	10128	LRPPRC	OMIM:220111
HP:0002197	Generalized-onset seizure	2746	GLUD1	ORPHA:35878
HP:0002197	Generalized-onset seizure	2982	GUCY1A1	OMIM:615750
HP:0002197	Generalized-onset seizure	5530	PPP3CA	OMIM:618265
HP:0002197	Generalized-onset seizure	23334	SZT2	OMIM:615476
HP:0002197	Generalized-onset seizure	5828	PEX2	OMIM:614866
HP:0002197	Generalized-onset seizure	11133	KPTN	OMIM:615637
HP:0002197	Generalized-onset seizure	81570	CLPB	OMIM:619835
HP:0002197	Generalized-onset seizure	3786	KCNQ3	ORPHA:307
HP:0002197	Generalized-onset seizure	8629	JRK	ORPHA:307
HP:0002197	Generalized-onset seizure	785	CACNB4	ORPHA:307
HP:0002197	Generalized-onset seizure	8659	ALDH4A1	ORPHA:79101
HP:0002197	Generalized-onset seizure	8496	PPFIBP1	OMIM:620024
HP:0002197	Generalized-onset seizure	5649	RELN	OMIM:257320
HP:0002197	Generalized-onset seizure	5649	RELN	ORPHA:101046
HP:0002197	Generalized-onset seizure	83475	DOHH	OMIM:620066
HP:0002197	Generalized-onset seizure	25814	ATXN10	ORPHA:98761
HP:0002197	Generalized-onset seizure	3766	KCNJ10	ORPHA:199343
HP:0002197	Generalized-onset seizure	151	ADRA2B	ORPHA:86814
HP:0002197	Generalized-onset seizure	55689	YEATS2	ORPHA:86814
HP:0002197	Generalized-onset seizure	1501	CTNND2	ORPHA:86814
HP:0002197	Generalized-onset seizure	10299	MARCHF6	ORPHA:86814
HP:0002197	Generalized-onset seizure	6900	CNTN2	ORPHA:86814
HP:0002197	Generalized-onset seizure	284058	KANSL1	ORPHA:363965
HP:0002197	Generalized-onset seizure	284058	KANSL1	ORPHA:363958
HP:0002197	Generalized-onset seizure	7504	XK	OMIM:300842
HP:0002197	Generalized-onset seizure	387119	CEP85L	OMIM:618873
HP:0002197	Generalized-onset seizure	5594	MAPK1	OMIM:619087
HP:0002197	Generalized-onset seizure	347733	TUBB2B	OMIM:610031
HP:0002197	Generalized-onset seizure	476	ATP1A1	OMIM:618314
HP:0002197	Generalized-onset seizure	476	ATP1A1	ORPHA:564178
HP:0002197	Generalized-onset seizure	2512	FTL	OMIM:615604
HP:0002197	Generalized-onset seizure	57038	RARS2	OMIM:611523
HP:0002197	Generalized-onset seizure	6509	SLC1A4	OMIM:616657
HP:0002197	Generalized-onset seizure	5354	PLP1	ORPHA:280229
HP:0002197	Generalized-onset seizure	112476	PRRT2	OMIM:602066
HP:0002197	Generalized-onset seizure	3778	KCNMA1	ORPHA:79137
HP:0002197	Generalized-onset seizure	284403	WDR62	OMIM:604317
HP:0002197	Generalized-onset seizure	55129	ANO10	ORPHA:284289
HP:0002197	Generalized-onset seizure	7084	TK2	ORPHA:254875
HP:0002197	Generalized-onset seizure	23162	MAPK8IP3	OMIM:618443
HP:0002197	Generalized-onset seizure	554	AVPR2	OMIM:300539
HP:0002197	Generalized-onset seizure	6651	SON	ORPHA:500150
HP:0002197	Generalized-onset seizure	10479	SLC9A6	ORPHA:85278
HP:0002197	Generalized-onset seizure	8260	NAA10	OMIM:300855
HP:0002197	Generalized-onset seizure	26047	CNTNAP2	OMIM:610042
HP:0002197	Generalized-onset seizure	8565	YARS1	OMIM:619418
HP:0002197	Generalized-onset seizure	9692	PRORP	OMIM:619737
HP:0002197	Generalized-onset seizure	2261	FGFR3	ORPHA:85165
HP:0002197	Generalized-onset seizure	51079	NDUFA13	OMIM:618249
HP:0002197	Generalized-onset seizure	404672	GTF2H5	ORPHA:33364
HP:0002197	Generalized-onset seizure	833	CARS1	ORPHA:33364
HP:0002197	Generalized-onset seizure	2068	ERCC2	ORPHA:33364
HP:0002197	Generalized-onset seizure	7737	RNF113A	ORPHA:33364
HP:0002197	Generalized-onset seizure	136647	MPLKIP	ORPHA:33364
HP:0002197	Generalized-onset seizure	6897	TARS1	ORPHA:33364
HP:0002197	Generalized-onset seizure	2071	ERCC3	ORPHA:33364
HP:0002197	Generalized-onset seizure	2961	GTF2E2	ORPHA:33364
HP:0002197	Generalized-onset seizure	9570	GOSR2	OMIM:620166
HP:0002197	Generalized-onset seizure	8604	SLC25A12	OMIM:612949
HP:0002197	Generalized-onset seizure	28962	OSTM1	OMIM:259720
HP:0002197	Generalized-onset seizure	9211	LGI1	ORPHA:101046
HP:0002197	Generalized-onset seizure	9681	DEPDC5	ORPHA:101046
HP:0002197	Generalized-onset seizure	11277	TREX1	ORPHA:247691
HP:0002197	Generalized-onset seizure	22872	SEC31A	OMIM:618651
HP:0002197	Generalized-onset seizure	2906	GRIN2D	OMIM:617162
HP:0002197	Generalized-onset seizure	8803	SUCLA2	OMIM:612073
HP:0002197	Generalized-onset seizure	26040	SETBP1	OMIM:616078
HP:0002197	Generalized-onset seizure	1641	DCX	ORPHA:2148
HP:0002197	Generalized-onset seizure	2475	MTOR	ORPHA:457485
HP:0002197	Generalized-onset seizure	9131	AIFM1	OMIM:300816
HP:0002197	Generalized-onset seizure	55367	PIDD1	OMIM:619827
HP:0002197	Generalized-onset seizure	9373	PLAA	OMIM:617527
HP:0002197	Generalized-onset seizure	950	SCARB2	OMIM:254900
HP:0002197	Generalized-onset seizure	9230	RAB11B	OMIM:617807
HP:0002197	Generalized-onset seizure	5373	PMM2	OMIM:212065
HP:0002197	Generalized-onset seizure	3192	HNRNPU	OMIM:617391
HP:0002197	Generalized-onset seizure	27286	SRPX2	ORPHA:1945
HP:0002197	Generalized-onset seizure	9839	ZEB2	ORPHA:261537
HP:0002197	Generalized-onset seizure	9839	ZEB2	ORPHA:261552
HP:0002197	Generalized-onset seizure	3745	KCNB1	OMIM:616056
HP:0002197	Generalized-onset seizure	610	HCN2	OMIM:602477
HP:0002197	Generalized-onset seizure	23241	PACS2	OMIM:618067
HP:0002197	Generalized-onset seizure	25977	NECAP1	OMIM:615833
HP:0002197	Generalized-onset seizure	4191	MDH2	OMIM:617339
HP:0002197	Generalized-onset seizure	6134	RPL10	ORPHA:459070
HP:0002197	Generalized-onset seizure	22796	COG2	ORPHA:435934
HP:0002197	Generalized-onset seizure	22796	COG2	OMIM:617395
HP:0002197	Generalized-onset seizure	55610	VPS50	OMIM:619685
HP:0002197	Generalized-onset seizure	6506	SLC1A2	OMIM:617105
HP:0002197	Generalized-onset seizure	56997	COQ8A	OMIM:612016
HP:0002197	Generalized-onset seizure	57582	KCNT1	OMIM:614959
HP:0002197	Generalized-onset seizure	6904	TBCD	ORPHA:496641
HP:0002197	Generalized-onset seizure	6904	TBCD	OMIM:617193
HP:0002197	Generalized-onset seizure	23229	ARHGEF9	ORPHA:163985
HP:0002197	Generalized-onset seizure	340024	SLC6A19	OMIM:234500
HP:0002197	Generalized-onset seizure	3735	KARS1	OMIM:619147
HP:0002197	Generalized-onset seizure	1917	EEF1A2	OMIM:616393
HP:0002197	Generalized-onset seizure	23314	SATB2	ORPHA:576283
HP:0002197	Generalized-onset seizure	3190	HNRNPK	ORPHA:453504
HP:0002197	Generalized-onset seizure	3190	HNRNPK	ORPHA:352665
HP:0002197	Generalized-onset seizure	7840	ALMS1	ORPHA:64
HP:0002197	Generalized-onset seizure	8912	CACNA1H	ORPHA:64280
HP:0002197	Generalized-onset seizure	1281	COL3A1	OMIM:618343
HP:0002197	Generalized-onset seizure	54496	PRMT7	OMIM:617157
HP:0002197	Generalized-onset seizure	23394	ADNP	OMIM:615873
HP:0002197	Generalized-onset seizure	23219	FBXO28	OMIM:619777
HP:0002197	Generalized-onset seizure	23732	FRRS1L	ORPHA:725
HP:0002197	Generalized-onset seizure	51322	WAC	ORPHA:466950
HP:0002197	Generalized-onset seizure	51343	FZR1	OMIM:620145
HP:0002197	Generalized-onset seizure	23067	SETD1B	OMIM:619000
HP:0002197	Generalized-onset seizure	11212	PLPBP	ORPHA:3006
HP:0002197	Generalized-onset seizure	197322	ACSF3	ORPHA:289504
HP:0002197	Generalized-onset seizure	197322	ACSF3	OMIM:614265
HP:0002197	Generalized-onset seizure	23261	CAMTA1	OMIM:614756
HP:0002197	Generalized-onset seizure	55753	OGDHL	OMIM:619701
HP:0002197	Generalized-onset seizure	9969	MED13	OMIM:618009
HP:0002197	Generalized-onset seizure	7337	UBE3A	ORPHA:98795
HP:0002197	Generalized-onset seizure	4677	NARS1	OMIM:619091
HP:0002197	Generalized-onset seizure	4677	NARS1	OMIM:619092
HP:0002197	Generalized-onset seizure	1351	COX8A	OMIM:619059
HP:0002197	Generalized-onset seizure	149371	EXOC8	OMIM:619076
HP:0002197	Generalized-onset seizure	55275	VPS53	OMIM:615851
HP:0002197	Generalized-onset seizure	2571	GAD1	OMIM:619124
HP:0002197	Generalized-onset seizure	51075	TMX2	OMIM:618730
HP:0002197	Generalized-onset seizure	84274	COQ5	OMIM:619028
HP:0002197	Generalized-onset seizure	5833	PCYT2	OMIM:618770
HP:0002197	Generalized-onset seizure	3658	IREB2	OMIM:618451
HP:0002197	Generalized-onset seizure	2558	GABRA5	OMIM:618559
HP:0002197	Generalized-onset seizure	5813	PURA	ORPHA:314655
HP:0002198	Dilated fourth ventricle	10682	EBP	ORPHA:401973
HP:0002198	Dilated fourth ventricle	10682	EBP	OMIM:300960
HP:0002198	Dilated fourth ventricle	10682	EBP	OMIM:302960
HP:0002198	Dilated fourth ventricle	56896	DPYSL5	OMIM:619435
HP:0002198	Dilated fourth ventricle	3265	HRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	3845	KRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	4893	NRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	4893	NRAS	OMIM:249400
HP:0002198	Dilated fourth ventricle	23556	PIGN	ORPHA:2059
HP:0002198	Dilated fourth ventricle	7355	SLC35A2	ORPHA:356961
HP:0002198	Dilated fourth ventricle	65062	TMEM237	OMIM:614424
HP:0002198	Dilated fourth ventricle	65062	TMEM237	ORPHA:564
HP:0002198	Dilated fourth ventricle	7545	ZIC1	OMIM:616602
HP:0002198	Dilated fourth ventricle	7545	ZIC1	OMIM:618736
HP:0002198	Dilated fourth ventricle	84942	WDR73	OMIM:251300
HP:0002198	Dilated fourth ventricle	2737	GLI3	ORPHA:36
HP:0002198	Dilated fourth ventricle	374654	KIF7	ORPHA:36
HP:0002198	Dilated fourth ventricle	79848	CSPP1	ORPHA:397715
HP:0002198	Dilated fourth ventricle	79848	CSPP1	ORPHA:564
HP:0002198	Dilated fourth ventricle	9786	KIAA0586	ORPHA:397715
HP:0002198	Dilated fourth ventricle	57465	TBC1D24	OMIM:220500
HP:0002198	Dilated fourth ventricle	57465	TBC1D24	ORPHA:79500
HP:0002198	Dilated fourth ventricle	55112	DYNC2I1	ORPHA:93271
HP:0002198	Dilated fourth ventricle	57560	IFT80	ORPHA:93271
HP:0002198	Dilated fourth ventricle	57539	WDR35	ORPHA:93271
HP:0002198	Dilated fourth ventricle	79659	DYNC2H1	ORPHA:93271
HP:0002198	Dilated fourth ventricle	89891	DYNC2I2	ORPHA:93271
HP:0002198	Dilated fourth ventricle	1436	CSF1R	OMIM:618476
HP:0002198	Dilated fourth ventricle	84162	BLTP1	OMIM:617822
HP:0002198	Dilated fourth ventricle	4081	MAB21L1	OMIM:618479
HP:0002198	Dilated fourth ventricle	51259	TMEM216	OMIM:603194
HP:0002198	Dilated fourth ventricle	51259	TMEM216	ORPHA:564
HP:0002198	Dilated fourth ventricle	55636	CHD7	ORPHA:138
HP:0002198	Dilated fourth ventricle	9723	SEMA3E	ORPHA:138
HP:0002198	Dilated fourth ventricle	9215	LARGE1	OMIM:236670
HP:0002198	Dilated fourth ventricle	9215	LARGE1	ORPHA:899
HP:0002198	Dilated fourth ventricle	9215	LARGE1	OMIM:613154
HP:0002198	Dilated fourth ventricle	2218	FKTN	OMIM:236670
HP:0002198	Dilated fourth ventricle	2218	FKTN	ORPHA:899
HP:0002198	Dilated fourth ventricle	84892	POMGNT2	ORPHA:899
HP:0002198	Dilated fourth ventricle	148789	B3GALNT2	ORPHA:899
HP:0002198	Dilated fourth ventricle	1282	COL4A1	ORPHA:899
HP:0002198	Dilated fourth ventricle	729920	CRPPA	ORPHA:899
HP:0002198	Dilated fourth ventricle	729920	CRPPA	OMIM:614643
HP:0002198	Dilated fourth ventricle	10329	RXYLT1	ORPHA:899
HP:0002198	Dilated fourth ventricle	1605	DAG1	ORPHA:899
HP:0002198	Dilated fourth ventricle	11041	B4GAT1	ORPHA:899
HP:0002198	Dilated fourth ventricle	11041	B4GAT1	OMIM:615287
HP:0002198	Dilated fourth ventricle	79068	FTO	OMIM:612938
HP:0002198	Dilated fourth ventricle	57492	ARID1B	OMIM:135900
HP:0002198	Dilated fourth ventricle	57492	ARID1B	ORPHA:1465
HP:0002198	Dilated fourth ventricle	3899	AFF3	OMIM:619297
HP:0002198	Dilated fourth ventricle	6597	SMARCA4	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6597	SMARCA4	OMIM:614609
HP:0002198	Dilated fourth ventricle	6598	SMARCB1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6598	SMARCB1	OMIM:614608
HP:0002198	Dilated fourth ventricle	6659	SOX4	ORPHA:1465
HP:0002198	Dilated fourth ventricle	8289	ARID1A	ORPHA:1465
HP:0002198	Dilated fourth ventricle	8289	ARID1A	OMIM:614607
HP:0002198	Dilated fourth ventricle	5977	DPF2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6601	SMARCC2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6602	SMARCD1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	196528	ARID2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6605	SMARCE1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6605	SMARCE1	OMIM:616938
HP:0002198	Dilated fourth ventricle	6664	SOX11	ORPHA:1465
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	ORPHA:2834
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	OMIM:219200
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	ORPHA:357074
HP:0002198	Dilated fourth ventricle	1801	DPH1	OMIM:616901
HP:0002198	Dilated fourth ventricle	1801	DPH1	ORPHA:459061
HP:0002198	Dilated fourth ventricle	27315	PGAP2	OMIM:614207
HP:0002198	Dilated fourth ventricle	157570	ESCO2	ORPHA:2319
HP:0002198	Dilated fourth ventricle	5340	PLG	ORPHA:722
HP:0002198	Dilated fourth ventricle	5340	PLG	OMIM:217090
HP:0002198	Dilated fourth ventricle	1717	DHCR7	OMIM:270400
HP:0002198	Dilated fourth ventricle	84314	TMEM107	ORPHA:564
HP:0002198	Dilated fourth ventricle	26123	TCTN3	ORPHA:564
HP:0002198	Dilated fourth ventricle	79867	TCTN2	ORPHA:564
HP:0002198	Dilated fourth ventricle	79600	TCTN1	ORPHA:564
HP:0002198	Dilated fourth ventricle	57096	RPGRIP1	ORPHA:564
HP:0002198	Dilated fourth ventricle	80184	CEP290	ORPHA:564
HP:0002198	Dilated fourth ventricle	80184	CEP290	OMIM:611134
HP:0002198	Dilated fourth ventricle	57545	CC2D2A	ORPHA:564
HP:0002198	Dilated fourth ventricle	79583	TMEM231	ORPHA:564
HP:0002198	Dilated fourth ventricle	79583	TMEM231	ORPHA:2752
HP:0002198	Dilated fourth ventricle	79770	TXNDC15	ORPHA:564
HP:0002198	Dilated fourth ventricle	27077	B9D1	ORPHA:564
HP:0002198	Dilated fourth ventricle	23322	RPGRIP1L	ORPHA:564
HP:0002198	Dilated fourth ventricle	27031	NPHP3	OMIM:267010
HP:0002198	Dilated fourth ventricle	27031	NPHP3	OMIM:208540
HP:0002198	Dilated fourth ventricle	27031	NPHP3	ORPHA:3032
HP:0002198	Dilated fourth ventricle	23258	DENND5A	OMIM:617281
HP:0002198	Dilated fourth ventricle	171023	ASXL1	ORPHA:97297
HP:0002198	Dilated fourth ventricle	171023	ASXL1	OMIM:605039
HP:0002198	Dilated fourth ventricle	9184	BUB3	ORPHA:1052
HP:0002198	Dilated fourth ventricle	699	BUB1	ORPHA:1052
HP:0002198	Dilated fourth ventricle	9702	CEP57	ORPHA:1052
HP:0002198	Dilated fourth ventricle	9319	TRIP13	ORPHA:1052
HP:0002198	Dilated fourth ventricle	701	BUB1B	ORPHA:1052
HP:0002198	Dilated fourth ventricle	701	BUB1B	OMIM:257300
HP:0002198	Dilated fourth ventricle	84188	FAR1	ORPHA:438178
HP:0002198	Dilated fourth ventricle	84188	FAR1	OMIM:616154
HP:0002198	Dilated fourth ventricle	2260	FGFR1	OMIM:613001
HP:0002198	Dilated fourth ventricle	124997	WDR81	OMIM:617967
HP:0002198	Dilated fourth ventricle	2683	B4GALT1	OMIM:607091
HP:0002198	Dilated fourth ventricle	2683	B4GALT1	ORPHA:79332
HP:0002198	Dilated fourth ventricle	26227	PHGDH	OMIM:256520
HP:0002198	Dilated fourth ventricle	10804	GJB6	ORPHA:477
HP:0002198	Dilated fourth ventricle	2706	GJB2	ORPHA:477
HP:0002198	Dilated fourth ventricle	4927	NUP88	ORPHA:994
HP:0002198	Dilated fourth ventricle	4654	MYOD1	ORPHA:994
HP:0002198	Dilated fourth ventricle	4593	MUSK	ORPHA:994
HP:0002198	Dilated fourth ventricle	5913	RAPSN	ORPHA:994
HP:0002198	Dilated fourth ventricle	6572	SLC18A3	ORPHA:994
HP:0002198	Dilated fourth ventricle	285489	DOK7	ORPHA:994
HP:0002198	Dilated fourth ventricle	7737	RNF113A	OMIM:300953
HP:0002198	Dilated fourth ventricle	56006	SMG9	OMIM:616920
HP:0002198	Dilated fourth ventricle	998	CDC42	ORPHA:487796
HP:0002198	Dilated fourth ventricle	51524	TMEM138	OMIM:614465
HP:0002198	Dilated fourth ventricle	11128	POLR3A	OMIM:264090
HP:0002198	Dilated fourth ventricle	4534	MTM1	OMIM:310400
HP:0002198	Dilated fourth ventricle	526	ATP6V1B2	ORPHA:79500
HP:0002198	Dilated fourth ventricle	54880	BCOR	OMIM:300166
HP:0002198	Dilated fourth ventricle	55640	FLVCR2	OMIM:225790
HP:0002198	Dilated fourth ventricle	28952	CCDC22	OMIM:300963
HP:0002198	Dilated fourth ventricle	28952	CCDC22	ORPHA:7
HP:0002198	Dilated fourth ventricle	80210	ARMC9	OMIM:617622
HP:0002198	Dilated fourth ventricle	5500	PPP1CB	OMIM:617506
HP:0002198	Dilated fourth ventricle	54676	GTPBP2	OMIM:617988
HP:0002198	Dilated fourth ventricle	63895	PIEZO2	OMIM:248700
HP:0002198	Dilated fourth ventricle	9897	WASHC5	OMIM:220210
HP:0002198	Dilated fourth ventricle	9897	WASHC5	ORPHA:7
HP:0002198	Dilated fourth ventricle	2239	GPC4	ORPHA:373
HP:0002198	Dilated fourth ventricle	2719	GPC3	ORPHA:373
HP:0002198	Dilated fourth ventricle	23007	PLCH1	OMIM:619895
HP:0002198	Dilated fourth ventricle	2121	EVC	OMIM:225500
HP:0002198	Dilated fourth ventricle	132884	EVC2	OMIM:225500
HP:0002198	Dilated fourth ventricle	153241	CEP120	OMIM:616300
HP:0002198	Dilated fourth ventricle	523	ATP6V1A	ORPHA:357074
HP:0002198	Dilated fourth ventricle	529	ATP6V1E1	ORPHA:357074
HP:0002198	Dilated fourth ventricle	3798	KIF5A	OMIM:617235
HP:0002198	Dilated fourth ventricle	1028	CDKN1C	OMIM:130650
HP:0002198	Dilated fourth ventricle	10984	KCNQ1OT1	OMIM:130650
HP:0002198	Dilated fourth ventricle	3481	IGF2	OMIM:130650
HP:0002198	Dilated fourth ventricle	3784	KCNQ1	OMIM:130650
HP:0002198	Dilated fourth ventricle	738	VPS51	OMIM:618606
HP:0002198	Dilated fourth ventricle	1376	CPT2	ORPHA:228305
HP:0002198	Dilated fourth ventricle	10195	ALG3	ORPHA:79321
HP:0002198	Dilated fourth ventricle	8481	OFD1	ORPHA:2750
HP:0002198	Dilated fourth ventricle	219844	HYLS1	OMIM:236680
HP:0002198	Dilated fourth ventricle	4281	MID1	ORPHA:2745
HP:0002198	Dilated fourth ventricle	8905	AP1S2	OMIM:304340
HP:0002198	Dilated fourth ventricle	7846	TUBA1A	ORPHA:171680
HP:0002198	Dilated fourth ventricle	4287	ATXN3	OMIM:109150
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276244
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276241
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276238
HP:0002198	Dilated fourth ventricle	203068	TUBB	OMIM:615771
HP:0002198	Dilated fourth ventricle	116228	COX20	OMIM:619054
HP:0002198	Dilated fourth ventricle	5879	RAC1	OMIM:617751
HP:0002198	Dilated fourth ventricle	123606	NIPA1	ORPHA:261183
HP:0002198	Dilated fourth ventricle	7283	TUBG1	ORPHA:261183
HP:0002198	Dilated fourth ventricle	81614	NIPA2	ORPHA:261183
HP:0002198	Dilated fourth ventricle	26005	C2CD3	ORPHA:434179
HP:0002198	Dilated fourth ventricle	8573	CASK	OMIM:300749
HP:0002198	Dilated fourth ventricle	267010	RNU12	OMIM:620208
HP:0002198	Dilated fourth ventricle	4361	MRE11	ORPHA:251347
HP:0002198	Dilated fourth ventricle	8239	USP9X	ORPHA:480880
HP:0002198	Dilated fourth ventricle	91147	TMEM67	OMIM:610688
HP:0002198	Dilated fourth ventricle	23203	PMPCA	OMIM:213200
HP:0002198	Dilated fourth ventricle	23203	PMPCA	ORPHA:1170
HP:0002198	Dilated fourth ventricle	29925	GMPPB	ORPHA:370959
HP:0002198	Dilated fourth ventricle	79147	FKRP	ORPHA:370959
HP:0002198	Dilated fourth ventricle	29954	POMT2	ORPHA:370959
HP:0002198	Dilated fourth ventricle	84197	POMK	ORPHA:370959
HP:0002198	Dilated fourth ventricle	55624	POMGNT1	ORPHA:370959
HP:0002198	Dilated fourth ventricle	10585	POMT1	ORPHA:370959
HP:0002198	Dilated fourth ventricle	54903	MKS1	OMIM:249000
HP:0002198	Dilated fourth ventricle	6311	ATXN2	OMIM:183090
HP:0002198	Dilated fourth ventricle	80776	B9D2	OMIM:614175
HP:0002198	Dilated fourth ventricle	8550	MAPKAPK5	OMIM:619869
HP:0002198	Dilated fourth ventricle	284217	LAMA1	OMIM:615960
HP:0002198	Dilated fourth ventricle	284217	LAMA1	ORPHA:370022
HP:0002198	Dilated fourth ventricle	10352	WARS2	ORPHA:572798
HP:0002198	Dilated fourth ventricle	4208	MEF2C	OMIM:613443
HP:0002198	Dilated fourth ventricle	2911	GRM1	OMIM:614831
HP:0002198	Dilated fourth ventricle	55770	EXOC2	OMIM:619306
HP:0002198	Dilated fourth ventricle	79971	WLS	OMIM:619648
HP:0002198	Dilated fourth ventricle	6310	ATXN1	OMIM:164400
HP:0002198	Dilated fourth ventricle	5373	PMM2	OMIM:212065
HP:0002199	Hypocalcemic seizures	9247	GCM2	OMIM:618883
HP:0002199	Hypocalcemic seizures	9247	GCM2	ORPHA:2239
HP:0002199	Hypocalcemic seizures	1594	CYP27B1	OMIM:264700
HP:0002199	Hypocalcemic seizures	1594	CYP27B1	ORPHA:289157
HP:0002199	Hypocalcemic seizures	6905	TBCE	OMIM:241410
HP:0002199	Hypocalcemic seizures	6905	TBCE	ORPHA:93324
HP:0002199	Hypocalcemic seizures	120227	CYP2R1	ORPHA:289157
HP:0002199	Hypocalcemic seizures	2625	GATA3	ORPHA:2237
HP:0002199	Hypocalcemic seizures	7421	VDR	OMIM:277440
HP:0002199	Hypocalcemic seizures	5741	PTH	OMIM:146200
HP:0002199	Hypocalcemic seizures	8792	TNFRSF11A	OMIM:612301
HP:0002199	Hypocalcemic seizures	2778	GNAS	ORPHA:94089
HP:0002199	Hypocalcemic seizures	2778	GNAS	ORPHA:79443
HP:0002199	Hypocalcemic seizures	2778	GNAS	ORPHA:79444
HP:0002199	Hypocalcemic seizures	8675	STX16	ORPHA:94089
HP:0002199	Hypocalcemic seizures	63901	FAM111A	ORPHA:93325
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	2263	FGFR2	OMIM:101400
HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0010228	Absent epiphyses of the phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0010234	Ivory epiphyses of the phalanges of the hand	2074	ERCC6	OMIM:133540
HP:0010234	Ivory epiphyses of the phalanges of the hand	1161	ERCC8	OMIM:216400
HP:0010234	Ivory epiphyses of the phalanges of the hand	4796	TONSL	ORPHA:93357
HP:0010234	Ivory epiphyses of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0010234	Ivory epiphyses of the phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010234	Ivory epiphyses of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0010235	Pseudoepiphyses of the phalanges of the hand	8200	GDF5	ORPHA:93384
HP:0010235	Pseudoepiphyses of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010235	Pseudoepiphyses of the phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0010235	Pseudoepiphyses of the phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0010235	Pseudoepiphyses of the phalanges of the hand	4883	NPR3	OMIM:619543
HP:0010235	Pseudoepiphyses of the phalanges of the hand	51715	RAB23	OMIM:201000
HP:0010236	Small epiphyses of the phalanges of the hand	1311	COMP	OMIM:177170
HP:0010237	Epiphyseal stippling of finger phalanges	8200	GDF5	ORPHA:93384
HP:0010237	Epiphyseal stippling of finger phalanges	658	BMPR1B	ORPHA:93384
HP:0010237	Epiphyseal stippling of finger phalanges	415	ARSL	ORPHA:79345
HP:0010238	Triangular epiphyses of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0025005	Thickening of glomerular capillary wall	81494	CFHR5	OMIM:614809
HP:0025006	Abnormal glomerular capillary morphology	81494	CFHR5	OMIM:614809
HP:0025007	Ectopic fovea	8322	FZD4	OMIM:133780
HP:0025007	Ectopic fovea	4041	LRP5	OMIM:133780
HP:0009370	Type A brachydactyly	4920	ROR2	OMIM:268310
HP:0009370	Type A brachydactyly	4613	MYCN	ORPHA:391641
HP:0009370	Type A brachydactyly	7021	TFAP2B	ORPHA:46627
HP:0009370	Type A brachydactyly	3481	IGF2	OMIM:180860
HP:0009370	Type A brachydactyly	51199	NIN	ORPHA:319675
HP:0009370	Type A brachydactyly	51199	NIN	OMIM:614851
HP:0009370	Type A brachydactyly	7474	WNT5A	OMIM:180700
HP:0009370	Type A brachydactyly	1855	DVL1	OMIM:180700
HP:0009370	Type A brachydactyly	9241	NOG	OMIM:186500
HP:0009370	Type A brachydactyly	22827	PUF60	ORPHA:508488
HP:0009370	Type A brachydactyly	3239	HOXD13	OMIM:186000
HP:0009370	Type A brachydactyly	3239	HOXD13	ORPHA:93409
HP:0009370	Type A brachydactyly	10847	SRCAP	OMIM:136140
HP:0009370	Type A brachydactyly	860	RUNX2	OMIM:119600
HP:0009370	Type A brachydactyly	860	RUNX2	OMIM:156510
HP:0009370	Type A brachydactyly	2623	GATA1	OMIM:190685
HP:0009370	Type A brachydactyly	2783	GNB2	OMIM:619503
HP:0009370	Type A brachydactyly	2697	GJA1	OMIM:164200
HP:0009370	Type A brachydactyly	5932	RBBP8	OMIM:251255
HP:0009370	Type A brachydactyly	79005	SCNM1	OMIM:620107
HP:0009370	Type A brachydactyly	5745	PTH1R	OMIM:600002
HP:0009370	Type A brachydactyly	650	BMP2	ORPHA:93396
HP:0009370	Type A brachydactyly	8200	GDF5	ORPHA:93396
HP:0009370	Type A brachydactyly	658	BMPR1B	ORPHA:93396
HP:0009371	Type A1 brachydactyly	5745	PTH1R	OMIM:600002
HP:0009372	Type A2 brachydactyly	650	BMP2	ORPHA:93396
HP:0009372	Type A2 brachydactyly	8200	GDF5	ORPHA:93396
HP:0009372	Type A2 brachydactyly	658	BMPR1B	ORPHA:93396
HP:0009373	Type C brachydactyly	8200	GDF5	ORPHA:93384
HP:0009373	Type C brachydactyly	658	BMPR1B	ORPHA:93384
HP:0009374	Broad phalanges of the 5th finger	7700	ZNF141	OMIM:615226
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	4920	ROR2	OMIM:268310
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	4613	MYCN	ORPHA:391641
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	3481	IGF2	OMIM:180860
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	51199	NIN	ORPHA:319675
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	51199	NIN	OMIM:614851
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	7474	WNT5A	OMIM:180700
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	1855	DVL1	OMIM:180700
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	9241	NOG	OMIM:186500
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	22827	PUF60	ORPHA:508488
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	10847	SRCAP	OMIM:136140
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	860	RUNX2	OMIM:119600
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	860	RUNX2	OMIM:156510
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	2623	GATA1	OMIM:190685
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	2783	GNB2	OMIM:619503
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	5932	RBBP8	OMIM:251255
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	1280	COL2A1	OMIM:271700
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	57492	ARID1B	OMIM:135900
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	658	BMPR1B	OMIM:112600
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	8200	GDF5	OMIM:112600
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	650	BMP2	OMIM:112600
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	2697	GJA1	OMIM:186100
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	9742	IFT140	OMIM:266920
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	56992	KIF15	ORPHA:261323
HP:0009378	Triangular shaped phalanges of the 5th finger	658	BMPR1B	OMIM:112600
HP:0009378	Triangular shaped phalanges of the 5th finger	8200	GDF5	OMIM:112600
HP:0009378	Triangular shaped phalanges of the 5th finger	650	BMP2	OMIM:112600
HP:0025010	Foveal atrophy	9364	RAB28	OMIM:615374
HP:0025011	Pyriform aperture stenosis	6469	SHH	OMIM:147250
HP:0025012	Status cribrosum	5654	HTRA1	OMIM:616779
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309271
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309263
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309256
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309271
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309263
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:206436
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309256
HP:0025013	Decerebrate rigidity	2581	GALC	ORPHA:206436
HP:0025013	Decerebrate rigidity	2581	GALC	OMIM:245200
HP:0025013	Decerebrate rigidity	443	ASPA	ORPHA:314911
HP:0025013	Decerebrate rigidity	2720	GLB1	ORPHA:79255
HP:0025014	Subcutaneous spheroids	1277	COL1A1	ORPHA:287
HP:0025014	Subcutaneous spheroids	1289	COL5A1	ORPHA:287
HP:0025014	Subcutaneous spheroids	1289	COL5A1	OMIM:130000
HP:0025014	Subcutaneous spheroids	1290	COL5A2	ORPHA:287
HP:0025014	Subcutaneous spheroids	1290	COL5A2	OMIM:130010
HP:0025015	Abnormal vascular morphology	7450	VWF	OMIM:193400
HP:0025015	Abnormal vascular morphology	5295	PIK3R1	OMIM:269880
HP:0025015	Abnormal vascular morphology	716	C1S	OMIM:617174
HP:0025015	Abnormal vascular morphology	165	AEBP1	OMIM:618000
HP:0025015	Abnormal vascular morphology	29957	SLC25A24	OMIM:612289
HP:0025015	Abnormal vascular morphology	92579	G6PC3	OMIM:612541
HP:0025015	Abnormal vascular morphology	8815	BANF1	OMIM:614008
HP:0025015	Abnormal vascular morphology	5831	PYCR1	OMIM:612940
HP:0025015	Abnormal vascular morphology	5831	PYCR1	OMIM:614438
HP:0025015	Abnormal vascular morphology	5468	PPARG	ORPHA:528
HP:0025015	Abnormal vascular morphology	5468	PPARG	OMIM:604367
HP:0025015	Abnormal vascular morphology	10555	AGPAT2	ORPHA:528
HP:0025015	Abnormal vascular morphology	284119	CAVIN1	ORPHA:528
HP:0025015	Abnormal vascular morphology	26580	BSCL2	ORPHA:528
HP:0025015	Abnormal vascular morphology	2353	FOS	ORPHA:528
HP:0025015	Abnormal vascular morphology	857	CAV1	ORPHA:528
HP:0025015	Abnormal vascular morphology	25839	COG4	OMIM:618150
HP:0025015	Abnormal vascular morphology	715	C1R	OMIM:130080
HP:0025015	Abnormal vascular morphology	221496	LEMD2	OMIM:619322
HP:0025015	Abnormal vascular morphology	5159	PDGFRB	OMIM:601812
HP:0025015	Abnormal vascular morphology	91252	SLC39A13	OMIM:612350
HP:0025015	Abnormal vascular morphology	529	ATP6V1E1	OMIM:617402
HP:0025015	Abnormal vascular morphology	84919	PPP1R15B	OMIM:616817
HP:0025015	Abnormal vascular morphology	7424	VEGFC	OMIM:615907
HP:0025015	Abnormal vascular morphology	84168	ANTXR1	OMIM:230740
HP:0025015	Abnormal vascular morphology	9791	PTDSS1	OMIM:151050
HP:0025015	Abnormal vascular morphology	11128	POLR3A	OMIM:264090
HP:0025015	Abnormal vascular morphology	11128	POLR3A	ORPHA:3455
HP:0025015	Abnormal vascular morphology	4693	NDP	ORPHA:90050
HP:0025015	Abnormal vascular morphology	4041	LRP5	ORPHA:90050
HP:0025015	Abnormal vascular morphology	8322	FZD4	ORPHA:90050
HP:0025015	Abnormal vascular morphology	4508	MT-ATP6	ORPHA:644
HP:0025015	Abnormal vascular morphology	1312	COMT	ORPHA:567
HP:0025015	Abnormal vascular morphology	221037	JMJD1C	ORPHA:567
HP:0025015	Abnormal vascular morphology	6239	RREB1	ORPHA:567
HP:0025015	Abnormal vascular morphology	6899	TBX1	ORPHA:567
HP:0025015	Abnormal vascular morphology	7290	HIRA	ORPHA:567
HP:0025015	Abnormal vascular morphology	9632	SEC24C	ORPHA:567
HP:0025015	Abnormal vascular morphology	7353	UFD1	ORPHA:567
HP:0025015	Abnormal vascular morphology	421	ARVCF	ORPHA:567
HP:0025015	Abnormal vascular morphology	4524	MTHFR	ORPHA:395
HP:0025015	Abnormal vascular morphology	4524	MTHFR	OMIM:236250
HP:0025015	Abnormal vascular morphology	7428	VHL	OMIM:263400
HP:0025015	Abnormal vascular morphology	7428	VHL	ORPHA:892
HP:0025015	Abnormal vascular morphology	6331	SCN5A	OMIM:614022
HP:0025015	Abnormal vascular morphology	6331	SCN5A	OMIM:601154
HP:0025015	Abnormal vascular morphology	55503	TRPV6	OMIM:618188
HP:0025015	Abnormal vascular morphology	7148	TNXB	ORPHA:230839
HP:0025015	Abnormal vascular morphology	1161	ERCC8	ORPHA:90324
HP:0025015	Abnormal vascular morphology	2074	ERCC6	ORPHA:90324
HP:0025015	Abnormal vascular morphology	5009	OTC	OMIM:311250
HP:0025015	Abnormal vascular morphology	2997	GYS1	OMIM:611556
HP:0025015	Abnormal vascular morphology	7174	TPP2	ORPHA:444463
HP:0025015	Abnormal vascular morphology	2908	NR3C1	ORPHA:786
HP:0025015	Abnormal vascular morphology	2908	NR3C1	ORPHA:96253
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:324713
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:324703
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:324708
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:100006
HP:0025015	Abnormal vascular morphology	351	APP	OMIM:605714
HP:0025015	Abnormal vascular morphology	9342	SNAP29	ORPHA:66631
HP:0025015	Abnormal vascular morphology	10560	SLC19A2	ORPHA:49827
HP:0025015	Abnormal vascular morphology	10560	SLC19A2	OMIM:249270
HP:0025015	Abnormal vascular morphology	11093	ADAMTS13	OMIM:274150
HP:0025015	Abnormal vascular morphology	5573	PRKAR1A	ORPHA:1359
HP:0025015	Abnormal vascular morphology	50940	PDE11A	ORPHA:1359
HP:0025015	Abnormal vascular morphology	51816	ADA2	OMIM:182410
HP:0025015	Abnormal vascular morphology	51816	ADA2	OMIM:615688
HP:0025015	Abnormal vascular morphology	84196	USP48	ORPHA:96253
HP:0025015	Abnormal vascular morphology	7157	TP53	ORPHA:96253
HP:0025015	Abnormal vascular morphology	9101	USP8	ORPHA:96253
HP:0025015	Abnormal vascular morphology	64072	CDH23	ORPHA:96253
HP:0025015	Abnormal vascular morphology	673	BRAF	ORPHA:96253
HP:0025015	Abnormal vascular morphology	546	ATRX	ORPHA:96253
HP:0025015	Abnormal vascular morphology	3043	HBB	OMIM:603903
HP:0025015	Abnormal vascular morphology	9149	DYRK1B	OMIM:615812
HP:0025015	Abnormal vascular morphology	4352	MPL	ORPHA:729
HP:0025015	Abnormal vascular morphology	3717	JAK2	ORPHA:729
HP:0025015	Abnormal vascular morphology	54790	TET2	ORPHA:729
HP:0025015	Abnormal vascular morphology	4629	MYH11	OMIM:132900
HP:0025015	Abnormal vascular morphology	4629	MYH11	ORPHA:229
HP:0025015	Abnormal vascular morphology	4629	MYH11	ORPHA:91387
HP:0025015	Abnormal vascular morphology	5346	PLIN1	OMIM:613877
HP:0025015	Abnormal vascular morphology	128989	TANGO2	ORPHA:480864
HP:0025015	Abnormal vascular morphology	5277	PIGA	ORPHA:447
HP:0025015	Abnormal vascular morphology	3291	HSD11B2	ORPHA:320
HP:0025015	Abnormal vascular morphology	2318	FLNC	OMIM:617047
HP:0025015	Abnormal vascular morphology	2318	FLNC	ORPHA:75249
HP:0025015	Abnormal vascular morphology	4204	MECP2	ORPHA:3077
HP:0025015	Abnormal vascular morphology	4763	NF1	ORPHA:97685
HP:0025015	Abnormal vascular morphology	4089	SMAD4	OMIM:175050
HP:0025015	Abnormal vascular morphology	4089	SMAD4	ORPHA:91387
HP:0025015	Abnormal vascular morphology	10370	CITED2	ORPHA:99105
HP:0025015	Abnormal vascular morphology	10370	CITED2	ORPHA:99103
HP:0025015	Abnormal vascular morphology	4854	NOTCH3	OMIM:125310
HP:0025015	Abnormal vascular morphology	4854	NOTCH3	ORPHA:136
HP:0025015	Abnormal vascular morphology	1471	CST3	OMIM:105150
HP:0025015	Abnormal vascular morphology	1471	CST3	ORPHA:100008
HP:0025015	Abnormal vascular morphology	7092	TLL1	ORPHA:99103
HP:0025015	Abnormal vascular morphology	57057	TBX20	ORPHA:99103
HP:0025015	Abnormal vascular morphology	4624	MYH6	ORPHA:99103
HP:0025015	Abnormal vascular morphology	1482	NKX2-5	ORPHA:99103
HP:0025015	Abnormal vascular morphology	70	ACTC1	ORPHA:99103
HP:0025015	Abnormal vascular morphology	2626	GATA4	ORPHA:99103
HP:0025015	Abnormal vascular morphology	2627	GATA6	ORPHA:99103
HP:0025015	Abnormal vascular morphology	5654	HTRA1	ORPHA:199354
HP:0025015	Abnormal vascular morphology	5654	HTRA1	OMIM:616779
HP:0025015	Abnormal vascular morphology	5654	HTRA1	OMIM:600142
HP:0025015	Abnormal vascular morphology	4607	MYBPC3	OMIM:115197
HP:0025015	Abnormal vascular morphology	11277	TREX1	OMIM:192315
HP:0025015	Abnormal vascular morphology	5167	ENPP1	ORPHA:51608
HP:0025015	Abnormal vascular morphology	368	ABCC6	ORPHA:51608
HP:0025015	Abnormal vascular morphology	368	ABCC6	OMIM:264800
HP:0025015	Abnormal vascular morphology	6804	STX1A	ORPHA:904
HP:0025015	Abnormal vascular morphology	7461	CLIP2	ORPHA:904
HP:0025015	Abnormal vascular morphology	84277	DNAJC30	ORPHA:904
HP:0025015	Abnormal vascular morphology	8468	FKBP6	ORPHA:904
HP:0025015	Abnormal vascular morphology	5982	RFC2	ORPHA:904
HP:0025015	Abnormal vascular morphology	2969	GTF2I	ORPHA:904
HP:0025015	Abnormal vascular morphology	3984	LIMK1	ORPHA:904
HP:0025015	Abnormal vascular morphology	9569	GTF2IRD1	ORPHA:904
HP:0025015	Abnormal vascular morphology	155382	VPS37D	ORPHA:904
HP:0025015	Abnormal vascular morphology	155368	METTL27	ORPHA:904
HP:0025015	Abnormal vascular morphology	114049	BUD23	ORPHA:904
HP:0025015	Abnormal vascular morphology	7458	EIF4H	ORPHA:904
HP:0025015	Abnormal vascular morphology	84163	GTF2IRD2	ORPHA:904
HP:0025015	Abnormal vascular morphology	9275	BCL7B	ORPHA:904
HP:0025015	Abnormal vascular morphology	26608	TBL2	ORPHA:904
HP:0025015	Abnormal vascular morphology	653361	NCF1	ORPHA:904
HP:0025015	Abnormal vascular morphology	135886	TMEM270	ORPHA:904
HP:0025015	Abnormal vascular morphology	51085	MLXIPL	ORPHA:904
HP:0025015	Abnormal vascular morphology	51085	MLXIPL	OMIM:194050
HP:0025015	Abnormal vascular morphology	9031	BAZ1B	ORPHA:904
HP:0025015	Abnormal vascular morphology	2006	ELN	ORPHA:904
HP:0025015	Abnormal vascular morphology	2006	ELN	OMIM:194050
HP:0025015	Abnormal vascular morphology	2006	ELN	ORPHA:91387
HP:0025015	Abnormal vascular morphology	84665	MYPN	ORPHA:75249
HP:0025015	Abnormal vascular morphology	7139	TNNT2	ORPHA:75249
HP:0025015	Abnormal vascular morphology	7137	TNNI3	ORPHA:75249
HP:0025015	Abnormal vascular morphology	10112	KIF20A	ORPHA:75249
HP:0025015	Abnormal vascular morphology	83605	CCM2	OMIM:603284
HP:0025015	Abnormal vascular morphology	189	AGXT	ORPHA:93598
HP:0025015	Abnormal vascular morphology	4000	LMNA	ORPHA:740
HP:0025015	Abnormal vascular morphology	10269	ZMPSTE24	ORPHA:740
HP:0025015	Abnormal vascular morphology	2316	FLNA	OMIM:300049
HP:0025015	Abnormal vascular morphology	64131	XYLT1	OMIM:264800
HP:0025015	Abnormal vascular morphology	64132	XYLT2	OMIM:264800
HP:0025015	Abnormal vascular morphology	80206	FHOD3	OMIM:619402
HP:0025015	Abnormal vascular morphology	2982	GUCY1A1	ORPHA:401945
HP:0025015	Abnormal vascular morphology	50485	SMARCAL1	ORPHA:1830
HP:0025015	Abnormal vascular morphology	50485	SMARCAL1	OMIM:242900
HP:0025015	Abnormal vascular morphology	7276	TTR	ORPHA:85451
HP:0025015	Abnormal vascular morphology	182	JAG1	OMIM:118450
HP:0025015	Abnormal vascular morphology	28976	ACAD9	OMIM:611126
HP:0025015	Abnormal vascular morphology	595	CCND1	ORPHA:892
HP:0025015	Abnormal vascular morphology	126792	B3GALT6	ORPHA:536467
HP:0025015	Abnormal vascular morphology	2147	F2	OMIM:601367
HP:0025015	Abnormal vascular morphology	4846	NOS3	OMIM:601367
HP:0025015	Abnormal vascular morphology	5583	PRKCH	OMIM:601367
HP:0025015	Abnormal vascular morphology	2153	F5	OMIM:601367
HP:0025015	Abnormal vascular morphology	241	ALOX5AP	OMIM:601367
HP:0025015	Abnormal vascular morphology	727676	SNORD118	ORPHA:542310
HP:0025015	Abnormal vascular morphology	5116	PCNT	ORPHA:2637
HP:0025015	Abnormal vascular morphology	162417	NAGS	ORPHA:927
HP:0025015	Abnormal vascular morphology	25974	MMACHC	ORPHA:79282
HP:0025015	Abnormal vascular morphology	445	ASS1	OMIM:215700
HP:0025015	Abnormal vascular morphology	875	CBS	OMIM:236200
HP:0025015	Abnormal vascular morphology	5286	PIK3C2A	ORPHA:557003
HP:0025015	Abnormal vascular morphology	2776	GNAQ	ORPHA:3205
HP:0025015	Abnormal vascular morphology	4860	PNP	ORPHA:760
HP:0025015	Abnormal vascular morphology	4615	MYD88	ORPHA:33226
HP:0025015	Abnormal vascular morphology	4878	NPPA	OMIM:615745
HP:0025015	Abnormal vascular morphology	1373	CPS1	OMIM:237300
HP:0025015	Abnormal vascular morphology	7535	ZAP70	ORPHA:911
HP:0025015	Abnormal vascular morphology	7046	TGFBR1	ORPHA:91387
HP:0025015	Abnormal vascular morphology	7048	TGFBR2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4015	LOX	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4087	SMAD2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	7043	TGFB3	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4088	SMAD3	ORPHA:91387
HP:0025015	Abnormal vascular morphology	7042	TGFB2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	2200	FBN1	ORPHA:91387
HP:0025015	Abnormal vascular morphology	59	ACTA2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	5592	PRKG1	ORPHA:91387
HP:0025015	Abnormal vascular morphology	2301	FOXE3	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4144	MAT2A	ORPHA:91387
HP:0025015	Abnormal vascular morphology	23493	HEY2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	8076	MFAP5	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4638	MYLK	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4594	MMUT	ORPHA:79312
HP:0025015	Abnormal vascular morphology	25978	CHMP2B	ORPHA:100070
HP:0025015	Abnormal vascular morphology	5663	PSEN1	ORPHA:100070
HP:0025015	Abnormal vascular morphology	2896	GRN	ORPHA:100070
HP:0025015	Abnormal vascular morphology	54664	TMEM106B	ORPHA:100070
HP:0025015	Abnormal vascular morphology	4137	MAPT	ORPHA:100070
HP:0025015	Abnormal vascular morphology	54209	TREM2	ORPHA:100070
HP:0025015	Abnormal vascular morphology	7415	VCP	ORPHA:100070
HP:0025015	Abnormal vascular morphology	2057	EPOR	OMIM:133100
HP:0025015	Abnormal vascular morphology	2677	GGCX	OMIM:277450
HP:0025015	Abnormal vascular morphology	1743	DLST	ORPHA:29072
HP:0025015	Abnormal vascular morphology	4191	MDH2	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6389	SDHA	ORPHA:29072
HP:0025015	Abnormal vascular morphology	23095	KIF1B	ORPHA:29072
HP:0025015	Abnormal vascular morphology	2271	FH	ORPHA:29072
HP:0025015	Abnormal vascular morphology	8402	SLC25A11	ORPHA:29072
HP:0025015	Abnormal vascular morphology	54949	SDHAF2	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6391	SDHC	ORPHA:29072
HP:0025015	Abnormal vascular morphology	4771	NF2	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6598	SMARCB1	ORPHA:2495
HP:0025015	Abnormal vascular morphology	5155	PDGFB	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6608	SMO	ORPHA:2495
HP:0025015	Abnormal vascular morphology	7015	TERT	ORPHA:2495
HP:0025015	Abnormal vascular morphology	51684	SUFU	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6605	SMARCE1	ORPHA:2495
HP:0025015	Abnormal vascular morphology	8517	IKBKG	OMIM:301081
HP:0025015	Abnormal vascular morphology	2335	FN1	ORPHA:84090
HP:0025015	Abnormal vascular morphology	3075	CFH	ORPHA:244242
HP:0025015	Abnormal vascular morphology	3426	CFI	ORPHA:244242
HP:0025015	Abnormal vascular morphology	4179	CD46	ORPHA:244242
HP:0025015	Abnormal vascular morphology	101101692	HELLPAR	ORPHA:244242
HP:0025015	Abnormal vascular morphology	2165	F13B	ORPHA:331
HP:0025015	Abnormal vascular morphology	442721	LMOD2	OMIM:619897
HP:0025015	Abnormal vascular morphology	11274	USP18	OMIM:617397
HP:0025015	Abnormal vascular morphology	6773	STAT2	OMIM:618886
HP:0025015	Abnormal vascular morphology	1788	DNMT3A	ORPHA:276621
HP:0025015	Abnormal vascular morphology	2034	EPAS1	ORPHA:276621
HP:0025015	Abnormal vascular morphology	9103	FCGR2C	ORPHA:3002
HP:0025015	Abnormal vascular morphology	5885	RAD21	OMIM:614701
HP:0025015	Abnormal vascular morphology	7355	SLC35A2	ORPHA:356961
HP:0025015	Abnormal vascular morphology	23414	ZFPM2	ORPHA:3303
HP:0025015	Abnormal vascular morphology	23414	ZFPM2	OMIM:187500
HP:0025015	Abnormal vascular morphology	3791	KDR	ORPHA:3303
HP:0025015	Abnormal vascular morphology	8443	GNPAT	OMIM:222765
HP:0025015	Abnormal vascular morphology	26275	HIBCH	ORPHA:88639
HP:0025015	Abnormal vascular morphology	26275	HIBCH	OMIM:250620
HP:0025015	Abnormal vascular morphology	29998	BICRA	OMIM:619325
HP:0025015	Abnormal vascular morphology	83479	DDX59	OMIM:174300
HP:0025015	Abnormal vascular morphology	83479	DDX59	ORPHA:2919
HP:0025015	Abnormal vascular morphology	1147	CHUK	OMIM:613630
HP:0025015	Abnormal vascular morphology	7852	CXCR4	ORPHA:51636
HP:0025015	Abnormal vascular morphology	8092	ALX1	ORPHA:306542
HP:0025015	Abnormal vascular morphology	3579	CXCR2	OMIM:619407
HP:0025015	Abnormal vascular morphology	2542	SLC37A4	OMIM:619525
HP:0025015	Abnormal vascular morphology	10084	PQBP1	OMIM:309500
HP:0025015	Abnormal vascular morphology	1663	DDX11	OMIM:613398
HP:0025015	Abnormal vascular morphology	257	ALX3	OMIM:136760
HP:0025015	Abnormal vascular morphology	27152	INTU	OMIM:617925
HP:0025015	Abnormal vascular morphology	27152	INTU	OMIM:617926
HP:0025015	Abnormal vascular morphology	51126	NAA20	OMIM:619717
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	OMIM:169100
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	ORPHA:46627
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	OMIM:617035
HP:0025015	Abnormal vascular morphology	1131	CHRM3	ORPHA:2970
HP:0025015	Abnormal vascular morphology	1131	CHRM3	OMIM:100100
HP:0025015	Abnormal vascular morphology	9578	CDC42BPB	OMIM:619841
HP:0025015	Abnormal vascular morphology	8942	KYNU	OMIM:617661
HP:0025015	Abnormal vascular morphology	55790	CSGALNACT1	OMIM:618870
HP:0025015	Abnormal vascular morphology	65082	VPS33A	OMIM:617303
HP:0025015	Abnormal vascular morphology	65082	VPS33A	ORPHA:505248
HP:0025015	Abnormal vascular morphology	55690	PACS1	OMIM:615009
HP:0025015	Abnormal vascular morphology	55690	PACS1	ORPHA:329224
HP:0025015	Abnormal vascular morphology	9200	HACD1	OMIM:619967
HP:0025015	Abnormal vascular morphology	3764	KCNJ8	ORPHA:1517
HP:0025015	Abnormal vascular morphology	10060	ABCC9	ORPHA:1517
HP:0025015	Abnormal vascular morphology	10060	ABCC9	OMIM:239850
HP:0025015	Abnormal vascular morphology	7086	TKT	ORPHA:488618
HP:0025015	Abnormal vascular morphology	7086	TKT	OMIM:617044
HP:0025015	Abnormal vascular morphology	57231	SNX14	ORPHA:397709
HP:0025015	Abnormal vascular morphology	5189	PEX1	OMIM:214100
HP:0025015	Abnormal vascular morphology	25885	POLR1A	OMIM:616462
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:1860
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:93274
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:2363
HP:0025015	Abnormal vascular morphology	7994	KAT6A	ORPHA:457193
HP:0025015	Abnormal vascular morphology	7994	KAT6A	OMIM:616268
HP:0025015	Abnormal vascular morphology	8726	EED	OMIM:617561
HP:0025015	Abnormal vascular morphology	203286	ANKS6	OMIM:615382
HP:0025015	Abnormal vascular morphology	22884	WDR37	OMIM:618652
HP:0025015	Abnormal vascular morphology	57178	ZMIZ1	OMIM:618659
HP:0025015	Abnormal vascular morphology	8550	MAPKAPK5	OMIM:619869
HP:0025015	Abnormal vascular morphology	5950	RBP4	OMIM:615147
HP:0025015	Abnormal vascular morphology	3782	KCNN3	OMIM:618658
HP:0025015	Abnormal vascular morphology	2296	FOXC1	OMIM:602482
HP:0025015	Abnormal vascular morphology	81794	ADAMTS10	OMIM:277600
HP:0025015	Abnormal vascular morphology	3476	IGBP1	ORPHA:52055
HP:0025015	Abnormal vascular morphology	3476	IGBP1	OMIM:300472
HP:0025015	Abnormal vascular morphology	51604	PIGT	OMIM:615398
HP:0025015	Abnormal vascular morphology	51604	PIGT	ORPHA:369837
HP:0025015	Abnormal vascular morphology	23126	POGZ	OMIM:616364
HP:0025015	Abnormal vascular morphology	213	ALB	OMIM:616000
HP:0025015	Abnormal vascular morphology	3481	IGF2	OMIM:616489
HP:0025015	Abnormal vascular morphology	57863	CADM3	OMIM:619519
HP:0025015	Abnormal vascular morphology	286	ANK1	ORPHA:251066
HP:0025015	Abnormal vascular morphology	1859	DYRK1A	ORPHA:464311
HP:0025015	Abnormal vascular morphology	4247	MGAT2	ORPHA:79329
HP:0025015	Abnormal vascular morphology	7750	ZMYM2	OMIM:619522
HP:0025015	Abnormal vascular morphology	79971	WLS	OMIM:619648
HP:0025015	Abnormal vascular morphology	51341	ZBTB7A	OMIM:619769
HP:0025015	Abnormal vascular morphology	775	CACNA1C	OMIM:601005
HP:0025015	Abnormal vascular morphology	79087	ALG12	ORPHA:79324
HP:0025015	Abnormal vascular morphology	79087	ALG12	OMIM:607143
HP:0025015	Abnormal vascular morphology	51117	COQ4	OMIM:616276
HP:0025015	Abnormal vascular morphology	1523	CUX1	OMIM:618330
HP:0025015	Abnormal vascular morphology	27429	HTRA2	OMIM:617248
HP:0025015	Abnormal vascular morphology	5062	PAK2	OMIM:618458
HP:0025015	Abnormal vascular morphology	5062	PAK2	ORPHA:1571
HP:0025015	Abnormal vascular morphology	9949	AMMECR1	OMIM:300990
HP:0025015	Abnormal vascular morphology	9949	AMMECR1	ORPHA:86818
HP:0025015	Abnormal vascular morphology	10102	TSFM	OMIM:610505
HP:0025015	Abnormal vascular morphology	7372	UMPS	ORPHA:30
HP:0025015	Abnormal vascular morphology	23395	LARS2	OMIM:617021
HP:0025015	Abnormal vascular morphology	9126	SMC3	OMIM:610759
HP:0025015	Abnormal vascular morphology	79068	FTO	OMIM:612938
HP:0025015	Abnormal vascular morphology	8626	TP63	OMIM:106260
HP:0025015	Abnormal vascular morphology	170302	ARX	ORPHA:452
HP:0025015	Abnormal vascular morphology	4784	NFIX	OMIM:602535
HP:0025015	Abnormal vascular morphology	2530	FUT8	OMIM:618005
HP:0025015	Abnormal vascular morphology	93166	PRDM6	OMIM:617039
HP:0025015	Abnormal vascular morphology	27031	NPHP3	OMIM:267010
HP:0025015	Abnormal vascular morphology	27031	NPHP3	OMIM:208540
HP:0025015	Abnormal vascular morphology	9496	TBX4	ORPHA:261279
HP:0025015	Abnormal vascular morphology	1760	DMPK	ORPHA:589821
HP:0025015	Abnormal vascular morphology	4990	SIX6	OMIM:206900
HP:0025015	Abnormal vascular morphology	6657	SOX2	OMIM:206900
HP:0025015	Abnormal vascular morphology	6657	SOX2	ORPHA:77298
HP:0025015	Abnormal vascular morphology	9321	TRIP11	ORPHA:166272
HP:0025015	Abnormal vascular morphology	57003	CCDC47	OMIM:618268
HP:0025015	Abnormal vascular morphology	57061	HYMAI	ORPHA:96191
HP:0025015	Abnormal vascular morphology	5325	PLAGL1	ORPHA:96191
HP:0025015	Abnormal vascular morphology	64840	PORCN	ORPHA:2092
HP:0025015	Abnormal vascular morphology	348180	CTU2	OMIM:618142
HP:0025015	Abnormal vascular morphology	26005	C2CD3	ORPHA:434179
HP:0025015	Abnormal vascular morphology	26005	C2CD3	OMIM:615948
HP:0025015	Abnormal vascular morphology	3248	HPGD	OMIM:259100
HP:0025015	Abnormal vascular morphology	84172	POLR1B	ORPHA:861
HP:0025015	Abnormal vascular morphology	9533	POLR1C	ORPHA:861
HP:0025015	Abnormal vascular morphology	51082	POLR1D	ORPHA:861
HP:0025015	Abnormal vascular morphology	6949	TCOF1	ORPHA:861
HP:0025015	Abnormal vascular morphology	7204	TRIO	OMIM:617061
HP:0025015	Abnormal vascular morphology	4841	NONO	OMIM:300967
HP:0025015	Abnormal vascular morphology	4841	NONO	ORPHA:466791
HP:0025015	Abnormal vascular morphology	8239	USP9X	OMIM:300968
HP:0025015	Abnormal vascular morphology	8239	USP9X	ORPHA:480880
HP:0025015	Abnormal vascular morphology	6299	SALL1	ORPHA:857
HP:0025015	Abnormal vascular morphology	51339	DACT1	ORPHA:857
HP:0025015	Abnormal vascular morphology	55252	ASXL2	OMIM:617190
HP:0025015	Abnormal vascular morphology	23387	SIK3	OMIM:618162
HP:0025015	Abnormal vascular morphology	6748	SSR4	ORPHA:370927
HP:0025015	Abnormal vascular morphology	89970	RSPRY1	ORPHA:457395
HP:0025015	Abnormal vascular morphology	5557	PRIM1	OMIM:620005
HP:0025015	Abnormal vascular morphology	23522	KAT6B	ORPHA:3047
HP:0025015	Abnormal vascular morphology	27161	AGO2	OMIM:619149
HP:0025015	Abnormal vascular morphology	10262	SF3B4	OMIM:154400
HP:0025015	Abnormal vascular morphology	57539	WDR35	OMIM:613610
HP:0025015	Abnormal vascular morphology	51506	UFC1	OMIM:618076
HP:0025015	Abnormal vascular morphology	6812	STXBP1	ORPHA:495818
HP:0025015	Abnormal vascular morphology	10225	CD96	OMIM:211750
HP:0025015	Abnormal vascular morphology	57492	ARID1B	OMIM:135900
HP:0025015	Abnormal vascular morphology	57492	ARID1B	ORPHA:1465
HP:0025015	Abnormal vascular morphology	1889	ECE1	OMIM:613870
HP:0025015	Abnormal vascular morphology	132158	GLYCTK	OMIM:220120
HP:0025015	Abnormal vascular morphology	55148	UBR7	OMIM:619189
HP:0025015	Abnormal vascular morphology	51021	MRPS16	OMIM:610498
HP:0025015	Abnormal vascular morphology	657	BMPR1A	ORPHA:79076
HP:0025015	Abnormal vascular morphology	79053	ALG8	OMIM:608104
HP:0025015	Abnormal vascular morphology	54499	TMCO1	OMIM:213980
HP:0025015	Abnormal vascular morphology	23137	SMC5	OMIM:620185
HP:0025015	Abnormal vascular morphology	79228	THOC6	ORPHA:363444
HP:0025015	Abnormal vascular morphology	79228	THOC6	OMIM:613680
HP:0025015	Abnormal vascular morphology	4094	MAF	ORPHA:1272
HP:0025015	Abnormal vascular morphology	2263	FGFR2	ORPHA:2363
HP:0025015	Abnormal vascular morphology	2255	FGF10	ORPHA:2363
HP:0025015	Abnormal vascular morphology	8813	DPM1	OMIM:608799
HP:0025015	Abnormal vascular morphology	2146	EZH2	OMIM:277590
HP:0025015	Abnormal vascular morphology	8195	MKKS	ORPHA:2473
HP:0025015	Abnormal vascular morphology	157570	ESCO2	OMIM:268300
HP:0025015	Abnormal vascular morphology	11020	IFT27	OMIM:615996
HP:0025015	Abnormal vascular morphology	5648	MASP1	OMIM:257920
HP:0025015	Abnormal vascular morphology	85358	SHANK3	OMIM:606232
HP:0025015	Abnormal vascular morphology	1837	DTNA	OMIM:604169
HP:0025015	Abnormal vascular morphology	113179	ADAT3	ORPHA:363528
HP:0025015	Abnormal vascular morphology	4297	KMT2A	OMIM:605130
HP:0025015	Abnormal vascular morphology	388753	COA6	OMIM:616501
HP:0025015	Abnormal vascular morphology	6659	SOX4	ORPHA:1465
HP:0025015	Abnormal vascular morphology	8289	ARID1A	ORPHA:1465
HP:0025015	Abnormal vascular morphology	5977	DPF2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6601	SMARCC2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6602	SMARCD1	ORPHA:1465
HP:0025015	Abnormal vascular morphology	196528	ARID2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6664	SOX11	ORPHA:1465
HP:0025015	Abnormal vascular morphology	51008	ASCC1	OMIM:616867
HP:0025015	Abnormal vascular morphology	9325	TRIP4	OMIM:616866
HP:0025015	Abnormal vascular morphology	57511	COG6	OMIM:614576
HP:0025015	Abnormal vascular morphology	80781	COL18A1	ORPHA:1571
HP:0025015	Abnormal vascular morphology	80781	COL18A1	OMIM:267750
HP:0025015	Abnormal vascular morphology	6638	SNRPN	ORPHA:177907
HP:0025015	Abnormal vascular morphology	59336	PRDM13	OMIM:619909
HP:0025015	Abnormal vascular morphology	6628	SNRPB	OMIM:117650
HP:0025015	Abnormal vascular morphology	23630	KCNE5	ORPHA:86818
HP:0025015	Abnormal vascular morphology	2182	ACSL4	ORPHA:86818
HP:0025015	Abnormal vascular morphology	7291	TWIST1	OMIM:617746
HP:0025015	Abnormal vascular morphology	100506658	OCLN	OMIM:251290
HP:0025015	Abnormal vascular morphology	93649	MYOCD	OMIM:618719
HP:0025015	Abnormal vascular morphology	5331	PLCB3	OMIM:618961
HP:0025015	Abnormal vascular morphology	153241	CEP120	OMIM:616300
HP:0025015	Abnormal vascular morphology	5879	RAC1	OMIM:617751
HP:0025015	Abnormal vascular morphology	5879	RAC1	ORPHA:500159
HP:0025015	Abnormal vascular morphology	9757	KMT2B	OMIM:619934
HP:0025015	Abnormal vascular morphology	84148	KAT8	OMIM:618974
HP:0025015	Abnormal vascular morphology	284086	NEK8	OMIM:615415
HP:0025015	Abnormal vascular morphology	3708	ITPR1	OMIM:206700
HP:0025015	Abnormal vascular morphology	650	BMP2	OMIM:617877
HP:0025015	Abnormal vascular morphology	490	ATP2B1	OMIM:619910
HP:0025015	Abnormal vascular morphology	23389	MED13L	OMIM:616789
HP:0025015	Abnormal vascular morphology	2218	FKTN	OMIM:253800
HP:0025015	Abnormal vascular morphology	51715	RAB23	OMIM:201000
HP:0025015	Abnormal vascular morphology	54870	QRICH1	OMIM:617982
HP:0025015	Abnormal vascular morphology	1954	MEGF8	OMIM:614976
HP:0025015	Abnormal vascular morphology	26227	PHGDH	OMIM:256520
HP:0025015	Abnormal vascular morphology	336	APOA2	OMIM:143890
HP:0025015	Abnormal vascular morphology	2053	EPHX2	OMIM:143890
HP:0025015	Abnormal vascular morphology	10842	PPP1R17	OMIM:143890
HP:0025015	Abnormal vascular morphology	2690	GHR	OMIM:143890
HP:0025015	Abnormal vascular morphology	2099	ESR1	ORPHA:785
HP:0025015	Abnormal vascular morphology	57592	ZNF687	OMIM:616833
HP:0025015	Abnormal vascular morphology	9759	HDAC4	ORPHA:1001
HP:0025015	Abnormal vascular morphology	64359	NXN	ORPHA:1507
HP:0025015	Abnormal vascular morphology	4920	ROR2	ORPHA:1507
HP:0025015	Abnormal vascular morphology	23592	LEMD3	ORPHA:1306
HP:0025015	Abnormal vascular morphology	22827	PUF60	ORPHA:508498
HP:0025015	Abnormal vascular morphology	22827	PUF60	ORPHA:508488
HP:0025015	Abnormal vascular morphology	1024	CDK8	OMIM:618748
HP:0025015	Abnormal vascular morphology	100151683	RNU4ATAC	OMIM:210710
HP:0025015	Abnormal vascular morphology	132	ADK	OMIM:614300
HP:0025015	Abnormal vascular morphology	6888	TALDO1	ORPHA:101028
HP:0025015	Abnormal vascular morphology	6888	TALDO1	OMIM:606003
HP:0025015	Abnormal vascular morphology	7707	ZNF148	OMIM:617260
HP:0025015	Abnormal vascular morphology	89910	UBE3B	OMIM:244450
HP:0025015	Abnormal vascular morphology	8085	KMT2D	ORPHA:2322
HP:0025015	Abnormal vascular morphology	8085	KMT2D	OMIM:147920
HP:0025015	Abnormal vascular morphology	7403	KDM6A	ORPHA:2322
HP:0025015	Abnormal vascular morphology	7403	KDM6A	OMIM:300867
HP:0025015	Abnormal vascular morphology	7403	KDM6A	OMIM:147920
HP:0025015	Abnormal vascular morphology	1956	EGFR	OMIM:616069
HP:0025015	Abnormal vascular morphology	146862	UNC45B	OMIM:619178
HP:0025015	Abnormal vascular morphology	1108	CHD4	OMIM:617159
HP:0025015	Abnormal vascular morphology	7026	NR2F2	OMIM:615779
HP:0025015	Abnormal vascular morphology	51057	WDPCP	OMIM:217085
HP:0025015	Abnormal vascular morphology	1000	CDH2	OMIM:618929
HP:0025015	Abnormal vascular morphology	1717	DHCR7	OMIM:270400
HP:0025015	Abnormal vascular morphology	9184	BUB3	ORPHA:1052
HP:0025015	Abnormal vascular morphology	699	BUB1	ORPHA:1052
HP:0025015	Abnormal vascular morphology	9702	CEP57	ORPHA:1052
HP:0025015	Abnormal vascular morphology	9702	CEP57	OMIM:614114
HP:0025015	Abnormal vascular morphology	9319	TRIP13	ORPHA:1052
HP:0025015	Abnormal vascular morphology	701	BUB1B	ORPHA:1052
HP:0025015	Abnormal vascular morphology	4212	MEIS2	OMIM:600987
HP:0025015	Abnormal vascular morphology	25	ABL1	OMIM:617602
HP:0025015	Abnormal vascular morphology	139285	AMER1	ORPHA:2780
HP:0025015	Abnormal vascular morphology	55644	OSGEP	OMIM:617729
HP:0025015	Abnormal vascular morphology	5826	ABCD4	OMIM:614857
HP:0025015	Abnormal vascular morphology	8883	NAE1	OMIM:620210
HP:0025015	Abnormal vascular morphology	2313	FLI1	ORPHA:2308
HP:0025015	Abnormal vascular morphology	10664	CTCF	ORPHA:363611
HP:0025015	Abnormal vascular morphology	10664	CTCF	OMIM:615502
HP:0025015	Abnormal vascular morphology	65250	CPLANE1	OMIM:277170
HP:0025015	Abnormal vascular morphology	83475	DOHH	OMIM:620066
HP:0025015	Abnormal vascular morphology	11198	SUPT16H	OMIM:619480
HP:0025015	Abnormal vascular morphology	28514	DLL1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2253	FGF8	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6496	SIX3	ORPHA:280195
HP:0025015	Abnormal vascular morphology	7050	TGIF1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6469	SHH	ORPHA:280195
HP:0025015	Abnormal vascular morphology	7546	ZIC2	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6491	STIL	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2619	GAS1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	84976	DISP1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2736	GLI2	ORPHA:280195
HP:0025015	Abnormal vascular morphology	8928	FOXH1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	5727	PTCH1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	50937	CDON	ORPHA:280195
HP:0025015	Abnormal vascular morphology	51322	WAC	ORPHA:284169
HP:0025015	Abnormal vascular morphology	23483	TGDS	OMIM:616145
HP:0025015	Abnormal vascular morphology	5236	PGM1	OMIM:614921
HP:0025015	Abnormal vascular morphology	9939	RBM8A	OMIM:274000
HP:0025015	Abnormal vascular morphology	6595	SMARCA2	OMIM:601358
HP:0025015	Abnormal vascular morphology	51626	DYNC2LI1	OMIM:617088
HP:0025015	Abnormal vascular morphology	8295	TRRAP	OMIM:618454
HP:0025015	Abnormal vascular morphology	54903	MKS1	OMIM:249000
HP:0025015	Abnormal vascular morphology	6736	SRY	ORPHA:1772
HP:0025015	Abnormal vascular morphology	5604	MAP2K1	OMIM:163950
HP:0025015	Abnormal vascular morphology	79813	EHMT1	OMIM:610253
HP:0025015	Abnormal vascular morphology	79813	EHMT1	ORPHA:96147
HP:0025015	Abnormal vascular morphology	3081	HGD	ORPHA:56
HP:0025015	Abnormal vascular morphology	3081	HGD	OMIM:203500
HP:0025015	Abnormal vascular morphology	9897	WASHC5	OMIM:220210
HP:0025015	Abnormal vascular morphology	10735	STAG2	OMIM:301043
HP:0025015	Abnormal vascular morphology	6909	TBX2	OMIM:618223
HP:0025015	Abnormal vascular morphology	23007	PLCH1	OMIM:619895
HP:0025015	Abnormal vascular morphology	84231	TRAF7	OMIM:618164
HP:0025015	Abnormal vascular morphology	5824	PEX19	OMIM:614886
HP:0025015	Abnormal vascular morphology	526	ATP6V1B2	ORPHA:79500
HP:0025015	Abnormal vascular morphology	57465	TBC1D24	ORPHA:79500
HP:0025015	Abnormal vascular morphology	9451	EIF2AK3	ORPHA:1667
HP:0025015	Abnormal vascular morphology	55593	OTUD5	OMIM:301056
HP:0025015	Abnormal vascular morphology	4313	MMP2	ORPHA:371428
HP:0025015	Abnormal vascular morphology	4323	MMP14	ORPHA:371428
HP:0025015	Abnormal vascular morphology	54880	BCOR	OMIM:300166
HP:0025015	Abnormal vascular morphology	285590	SH3PXD2B	OMIM:249420
HP:0025015	Abnormal vascular morphology	9772	TMEM94	OMIM:618316
HP:0025015	Abnormal vascular morphology	55997	CFC1	OMIM:605376
HP:0025015	Abnormal vascular morphology	5053	PAH	ORPHA:2209
HP:0025015	Abnormal vascular morphology	9896	FIG4	ORPHA:3472
HP:0025015	Abnormal vascular morphology	55697	VAC14	ORPHA:3472
HP:0025015	Abnormal vascular morphology	55654	TMEM127	OMIM:171300
HP:0025015	Abnormal vascular morphology	5979	RET	OMIM:171300
HP:0025015	Abnormal vascular morphology	6390	SDHB	OMIM:171300
HP:0025015	Abnormal vascular morphology	4149	MAX	OMIM:171300
HP:0025015	Abnormal vascular morphology	50628	GEMIN4	OMIM:617913
HP:0025015	Abnormal vascular morphology	5456	POU3F4	ORPHA:1435
HP:0025015	Abnormal vascular morphology	2658	GDF2	ORPHA:774
HP:0025015	Abnormal vascular morphology	2548	GAA	OMIM:232300
HP:0025015	Abnormal vascular morphology	5921	RASA1	ORPHA:90307
HP:0025015	Abnormal vascular morphology	2159	F10	ORPHA:328
HP:0025015	Abnormal vascular morphology	81704	DOCK8	OMIM:243700
HP:0025015	Abnormal vascular morphology	6786	STIM1	OMIM:185070
HP:0025015	Abnormal vascular morphology	55901	THSD1	OMIM:618734
HP:0025015	Abnormal vascular morphology	55901	THSD1	ORPHA:231160
HP:0025015	Abnormal vascular morphology	2811	GP1BA	ORPHA:853
HP:0025015	Abnormal vascular morphology	2812	GP1BB	ORPHA:853
HP:0025015	Abnormal vascular morphology	3674	ITGA2B	ORPHA:853
HP:0025015	Abnormal vascular morphology	3673	ITGA2	ORPHA:853
HP:0025015	Abnormal vascular morphology	135228	CD109	ORPHA:853
HP:0025015	Abnormal vascular morphology	3690	ITGB3	ORPHA:853
HP:0025015	Abnormal vascular morphology	7049	TGFBR3	ORPHA:231160
HP:0025015	Abnormal vascular morphology	1281	COL3A1	ORPHA:231160
HP:0025015	Abnormal vascular morphology	83854	ANGPTL6	ORPHA:231160
HP:0025015	Abnormal vascular morphology	94	ACVRL1	OMIM:600376
HP:0025015	Abnormal vascular morphology	2022	ENG	OMIM:187300
HP:0025015	Abnormal vascular morphology	81031	SLC2A10	OMIM:208050
HP:0025015	Abnormal vascular morphology	6651	SON	ORPHA:500150
HP:0025015	Abnormal vascular morphology	2783	GNB2	OMIM:619503
HP:0025015	Abnormal vascular morphology	79184	BRCC3	ORPHA:280679
HP:0025015	Abnormal vascular morphology	1282	COL4A1	OMIM:175780
HP:0025015	Abnormal vascular morphology	1798	DPAGT1	ORPHA:86309
HP:0025015	Abnormal vascular morphology	54809	SAMD9	OMIM:617053
HP:0025015	Abnormal vascular morphology	2155	F7	OMIM:227500
HP:0025015	Abnormal vascular morphology	2155	F7	ORPHA:327
HP:0025015	Abnormal vascular morphology	2629	GBA1	ORPHA:85212
HP:0025015	Abnormal vascular morphology	65062	TMEM237	OMIM:614424
HP:0025015	Abnormal vascular morphology	7456	WIPF1	ORPHA:906
HP:0025015	Abnormal vascular morphology	5728	PTEN	ORPHA:109
HP:0025015	Abnormal vascular morphology	2624	GATA2	ORPHA:3226
HP:0025015	Abnormal vascular morphology	5345	SERPINF2	ORPHA:79
HP:0025015	Abnormal vascular morphology	249	ALPL	OMIM:241500
HP:0025015	Abnormal vascular morphology	3998	LMAN1	ORPHA:35909
HP:0025015	Abnormal vascular morphology	90411	MCFD2	ORPHA:35909
HP:0025015	Abnormal vascular morphology	2162	F13A1	OMIM:613225
HP:0025015	Abnormal vascular morphology	1584	CYP11B1	ORPHA:90795
HP:0025015	Abnormal vascular morphology	1584	CYP11B1	ORPHA:403
HP:0025015	Abnormal vascular morphology	5373	PMM2	ORPHA:79318
HP:0025015	Abnormal vascular morphology	889	KRIT1	OMIM:116860
HP:0025015	Abnormal vascular morphology	1284	COL4A2	OMIM:614483
HP:0025015	Abnormal vascular morphology	340665	CYP26C1	ORPHA:398189
HP:0025015	Abnormal vascular morphology	1181	CLCN2	ORPHA:404
HP:0025015	Abnormal vascular morphology	1585	CYP11B2	ORPHA:403
HP:0025015	Abnormal vascular morphology	776	CACNA1D	ORPHA:369929
HP:0025015	Abnormal vascular morphology	25942	SIN3A	OMIM:613406
HP:0025015	Abnormal vascular morphology	3762	KCNJ5	ORPHA:251274
HP:0025015	Abnormal vascular morphology	7066	THPO	ORPHA:71493
HP:0025015	Abnormal vascular morphology	2717	GLA	OMIM:301500
HP:0025015	Abnormal vascular morphology	2717	GLA	ORPHA:324
HP:0025015	Abnormal vascular morphology	71	ACTG1	ORPHA:2995
HP:0025015	Abnormal vascular morphology	60	ACTB	ORPHA:2995
HP:0025015	Abnormal vascular morphology	10019	SH2B3	ORPHA:3318
HP:0025015	Abnormal vascular morphology	811	CALR	ORPHA:3318
HP:0025015	Abnormal vascular morphology	57674	RNF213	OMIM:607151
HP:0025015	Abnormal vascular morphology	5621	PRNP	ORPHA:282166
HP:0025015	Abnormal vascular morphology	4702	NDUFA8	OMIM:619272
HP:0025015	Abnormal vascular morphology	4512	MT-CO1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4512	MT-CO1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4513	MT-CO2	OMIM:540000
HP:0025015	Abnormal vascular morphology	4513	MT-CO2	ORPHA:550
HP:0025015	Abnormal vascular morphology	4511	MT-TC	OMIM:540000
HP:0025015	Abnormal vascular morphology	4574	MT-TS1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4574	MT-TS1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4575	MT-TS2	OMIM:540000
HP:0025015	Abnormal vascular morphology	4575	MT-TS2	ORPHA:550
HP:0025015	Abnormal vascular morphology	4558	MT-TF	OMIM:540000
HP:0025015	Abnormal vascular morphology	4558	MT-TF	ORPHA:550
HP:0025015	Abnormal vascular morphology	4567	MT-TL1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4567	MT-TL1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4566	MT-TK	OMIM:540000
HP:0025015	Abnormal vascular morphology	4572	MT-TQ	OMIM:540000
HP:0025015	Abnormal vascular morphology	4572	MT-TQ	ORPHA:550
HP:0025015	Abnormal vascular morphology	4577	MT-TV	OMIM:540000
HP:0025015	Abnormal vascular morphology	4578	MT-TW	OMIM:540000
HP:0025015	Abnormal vascular morphology	4578	MT-TW	ORPHA:550
HP:0025015	Abnormal vascular morphology	7466	WFS1	OMIM:222300
HP:0025015	Abnormal vascular morphology	4564	MT-TH	ORPHA:550
HP:0025015	Abnormal vascular morphology	3980	LIG3	OMIM:619780
HP:0025015	Abnormal vascular morphology	54344	DPM3	ORPHA:263494
HP:0025015	Abnormal vascular morphology	91869	RFT1	ORPHA:244310
HP:0025015	Abnormal vascular morphology	23600	AMACR	ORPHA:79095
HP:0025015	Abnormal vascular morphology	3569	IL6	OMIM:108010
HP:0025015	Abnormal vascular morphology	6575	SLC20A2	OMIM:213600
HP:0025015	Abnormal vascular morphology	9780	PIEZO1	OMIM:616843
HP:0025015	Abnormal vascular morphology	79633	FAT4	OMIM:616006
HP:0025015	Abnormal vascular morphology	1604	CD55	OMIM:226300
HP:0025015	Abnormal vascular morphology	147372	CCBE1	OMIM:235510
HP:0025015	Abnormal vascular morphology	80169	CTC1	OMIM:612199
HP:0025015	Abnormal vascular morphology	1278	COL1A2	ORPHA:230851
HP:0025015	Abnormal vascular morphology	7169	TPM2	ORPHA:171881
HP:0025015	Abnormal vascular morphology	7170	TPM3	ORPHA:171881
HP:0025015	Abnormal vascular morphology	9469	CHST3	OMIM:245600
HP:0025015	Abnormal vascular morphology	26229	B3GAT3	OMIM:245600
HP:0025015	Abnormal vascular morphology	4883	NPR3	OMIM:619543
HP:0025015	Abnormal vascular morphology	79576	NKAP	OMIM:301039
HP:0025015	Abnormal vascular morphology	833	CARS1	OMIM:618891
HP:0025015	Abnormal vascular morphology	23384	SPECC1L	OMIM:145420
HP:0025015	Abnormal vascular morphology	29927	SEC61A1	OMIM:617056
HP:0025015	Abnormal vascular morphology	57167	SALL4	OMIM:607323
HP:0025015	Abnormal vascular morphology	197131	UBR1	OMIM:243800
HP:0025015	Abnormal vascular morphology	11231	SEC63	ORPHA:2924
HP:0025015	Abnormal vascular morphology	6774	STAT3	ORPHA:2314
HP:0025015	Abnormal vascular morphology	57728	WDR19	OMIM:616307
HP:0025015	Abnormal vascular morphology	286204	CRB2	OMIM:219730
HP:0025015	Abnormal vascular morphology	5087	PBX1	OMIM:617641
HP:0025015	Abnormal vascular morphology	51025	PAM16	OMIM:613320
HP:0025015	Abnormal vascular morphology	6663	SOX10	OMIM:611584
HP:0025015	Abnormal vascular morphology	5193	PEX12	OMIM:614859
HP:0025015	Abnormal vascular morphology	9158	FIBP	ORPHA:500095
HP:0025015	Abnormal vascular morphology	9158	FIBP	OMIM:617107
HP:0025015	Abnormal vascular morphology	2303	FOXC2	ORPHA:33001
HP:0025015	Abnormal vascular morphology	2303	FOXC2	OMIM:153400
HP:0025015	Abnormal vascular morphology	55315	SLC29A3	OMIM:602782
HP:0025015	Abnormal vascular morphology	55315	SLC29A3	ORPHA:168569
HP:0025015	Abnormal vascular morphology	3798	KIF5A	ORPHA:100991
HP:0025015	Abnormal vascular morphology	57165	GJC2	ORPHA:79452
HP:0025015	Abnormal vascular morphology	1188	CLCNKB	ORPHA:358
HP:0025015	Abnormal vascular morphology	6559	SLC12A3	ORPHA:358
HP:0025015	Abnormal vascular morphology	7840	ALMS1	OMIM:203800
HP:0025015	Abnormal vascular morphology	91754	NEK9	OMIM:617022
HP:0025015	Abnormal vascular morphology	1349	COX7B	OMIM:309801
HP:0025015	Abnormal vascular morphology	3052	HCCS	OMIM:309801
HP:0025015	Abnormal vascular morphology	54539	NDUFB11	OMIM:309801
HP:0025015	Abnormal vascular morphology	355	FAS	ORPHA:3261
HP:0025015	Abnormal vascular morphology	355	FAS	OMIM:601859
HP:0025015	Abnormal vascular morphology	355	FAS	ORPHA:117
HP:0025015	Abnormal vascular morphology	356	FASLG	ORPHA:3261
HP:0025015	Abnormal vascular morphology	356	FASLG	OMIM:601859
HP:0025015	Abnormal vascular morphology	843	CASP10	ORPHA:3261
HP:0025015	Abnormal vascular morphology	843	CASP10	OMIM:603909
HP:0025015	Abnormal vascular morphology	10125	RASGRP1	ORPHA:3261
HP:0025015	Abnormal vascular morphology	90268	OTULIN	OMIM:617099
HP:0025015	Abnormal vascular morphology	720	C4A	OMIM:614380
HP:0025015	Abnormal vascular morphology	720	C4A	ORPHA:117
HP:0025015	Abnormal vascular morphology	1493	CTLA4	ORPHA:900
HP:0025015	Abnormal vascular morphology	3115	HLA-DPB1	ORPHA:900
HP:0025015	Abnormal vascular morphology	5657	PRTN3	ORPHA:900
HP:0025015	Abnormal vascular morphology	3113	HLA-DPA1	ORPHA:900
HP:0025015	Abnormal vascular morphology	4598	MVK	ORPHA:343
HP:0025015	Abnormal vascular morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025015	Abnormal vascular morphology	331	XIAP	OMIM:308240
HP:0025015	Abnormal vascular morphology	4068	SH2D1A	OMIM:308240
HP:0025015	Abnormal vascular morphology	114548	NLRP3	ORPHA:575
HP:0025015	Abnormal vascular morphology	6335	SCN9A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	11280	SCN11A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	6336	SCN10A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	6583	SLC22A4	OMIM:180300
HP:0025015	Abnormal vascular morphology	4261	CIITA	OMIM:180300
HP:0025015	Abnormal vascular morphology	51744	CD244	OMIM:180300
HP:0025015	Abnormal vascular morphology	4795	NFKBIL1	OMIM:180300
HP:0025015	Abnormal vascular morphology	3586	IL10	OMIM:180300
HP:0025015	Abnormal vascular morphology	3586	IL10	ORPHA:117
HP:0025015	Abnormal vascular morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025015	Abnormal vascular morphology	4790	NFKB1	ORPHA:1572
HP:0025015	Abnormal vascular morphology	4791	NFKB2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025015	Abnormal vascular morphology	1380	CR2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	8742	TNFSF12	ORPHA:1572
HP:0025015	Abnormal vascular morphology	930	CD19	ORPHA:1572
HP:0025015	Abnormal vascular morphology	29851	ICOS	ORPHA:1572
HP:0025015	Abnormal vascular morphology	931	MS4A1	ORPHA:1572
HP:0025015	Abnormal vascular morphology	975	CD81	ORPHA:1572
HP:0025015	Abnormal vascular morphology	359948	IRF2BP2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	54	ACP5	ORPHA:1855
HP:0025015	Abnormal vascular morphology	149233	IL23R	ORPHA:117
HP:0025015	Abnormal vascular morphology	6775	STAT4	ORPHA:117
HP:0025015	Abnormal vascular morphology	1230	CCR1	ORPHA:117
HP:0025015	Abnormal vascular morphology	3592	IL12A	ORPHA:117
HP:0025015	Abnormal vascular morphology	101928376	IL12A-AS1	ORPHA:117
HP:0025015	Abnormal vascular morphology	7099	TLR4	ORPHA:117
HP:0025015	Abnormal vascular morphology	3459	IFNGR1	ORPHA:117
HP:0025015	Abnormal vascular morphology	337867	UBAC2	ORPHA:117
HP:0025015	Abnormal vascular morphology	51752	ERAP1	ORPHA:117
HP:0025015	Abnormal vascular morphology	8302	KLRC4	ORPHA:117
HP:0025015	Abnormal vascular morphology	2068	ERCC2	ORPHA:220295
HP:0025015	Abnormal vascular morphology	2073	ERCC5	ORPHA:220295
HP:0025015	Abnormal vascular morphology	2071	ERCC3	ORPHA:220295
HP:0025015	Abnormal vascular morphology	847	CAT	ORPHA:926
HP:0025015	Abnormal vascular morphology	6309	SC5D	OMIM:607330
HP:0025015	Abnormal vascular morphology	2720	GLB1	OMIM:230650
HP:0025015	Abnormal vascular morphology	3931	LCAT	OMIM:245900
HP:0025015	Abnormal vascular morphology	5294	PIK3CG	OMIM:619802
HP:0025015	Abnormal vascular morphology	1439	CSF2RB	ORPHA:264675
HP:0025015	Abnormal vascular morphology	1438	CSF2RA	ORPHA:264675
HP:0025015	Abnormal vascular morphology	3123	HLA-DRB1	ORPHA:747
HP:0025015	Abnormal vascular morphology	5538	PPT1	OMIM:256730
HP:0025015	Abnormal vascular morphology	54982	CLN6	OMIM:204300
HP:0025015	Abnormal vascular morphology	80331	DNAJC5	OMIM:162350
HP:0025015	Abnormal vascular morphology	1509	CTSD	OMIM:610127
HP:0025015	Abnormal vascular morphology	2055	CLN8	ORPHA:1947
HP:0025015	Abnormal vascular morphology	6609	SMPD1	OMIM:607616
HP:0025015	Abnormal vascular morphology	6609	SMPD1	OMIM:257200
HP:0025015	Abnormal vascular morphology	3988	LIPA	OMIM:278000
HP:0025015	Abnormal vascular morphology	3988	LIPA	ORPHA:75233
HP:0025015	Abnormal vascular morphology	10577	NPC2	OMIM:607625
HP:0025015	Abnormal vascular morphology	4864	NPC1	OMIM:257220
HP:0025015	Abnormal vascular morphology	4758	NEU1	OMIM:256550
HP:0025015	Abnormal vascular morphology	9968	MED12	OMIM:301068
HP:0025015	Abnormal vascular morphology	6134	RPL10	OMIM:300998
HP:0025015	Abnormal vascular morphology	6134	RPL10	ORPHA:459070
HP:0025015	Abnormal vascular morphology	6134	RPL10	ORPHA:435938
HP:0025015	Abnormal vascular morphology	8260	NAA10	OMIM:300855
HP:0025015	Abnormal vascular morphology	8260	NAA10	ORPHA:276432
HP:0025015	Abnormal vascular morphology	1272	CNTN1	OMIM:612540
HP:0025015	Abnormal vascular morphology	10082	GPC6	OMIM:258315
HP:0025015	Abnormal vascular morphology	9487	PIGL	OMIM:280000
HP:0025015	Abnormal vascular morphology	64919	BCL11B	OMIM:617237
HP:0025015	Abnormal vascular morphology	57514	ARHGAP31	OMIM:100300
HP:0025015	Abnormal vascular morphology	22800	RRAS2	ORPHA:648
HP:0025015	Abnormal vascular morphology	867	CBL	ORPHA:648
HP:0025015	Abnormal vascular morphology	8216	LZTR1	ORPHA:648
HP:0025015	Abnormal vascular morphology	6016	RIT1	ORPHA:648
HP:0025015	Abnormal vascular morphology	6237	RRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	5894	RAF1	ORPHA:648
HP:0025015	Abnormal vascular morphology	22808	MRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	3845	KRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	200734	SPRED2	ORPHA:648
HP:0025015	Abnormal vascular morphology	4893	NRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	6654	SOS1	ORPHA:648
HP:0025015	Abnormal vascular morphology	6655	SOS2	ORPHA:648
HP:0025015	Abnormal vascular morphology	5781	PTPN11	ORPHA:648
HP:0025015	Abnormal vascular morphology	5922	RASA2	ORPHA:648
HP:0025015	Abnormal vascular morphology	7486	WRN	ORPHA:902
HP:0025015	Abnormal vascular morphology	54361	WNT4	OMIM:611812
HP:0025015	Abnormal vascular morphology	9839	ZEB2	OMIM:235730
HP:0025015	Abnormal vascular morphology	415	ARSL	ORPHA:79345
HP:0025015	Abnormal vascular morphology	10312	TCIRG1	ORPHA:667
HP:0025015	Abnormal vascular morphology	1186	CLCN7	ORPHA:667
HP:0025015	Abnormal vascular morphology	29887	SNX10	ORPHA:667
HP:0025015	Abnormal vascular morphology	8600	TNFSF11	ORPHA:667
HP:0025015	Abnormal vascular morphology	5422	POLA1	OMIM:301030
HP:0025015	Abnormal vascular morphology	2623	GATA1	OMIM:190685
HP:0025015	Abnormal vascular morphology	4256	MGP	ORPHA:85202
HP:0025015	Abnormal vascular morphology	92002	CCNQ	ORPHA:140952
HP:0025015	Abnormal vascular morphology	388015	RTL1	ORPHA:96334
HP:0025015	Abnormal vascular morphology	8788	DLK1	ORPHA:96334
HP:0025015	Abnormal vascular morphology	55384	MEG3	ORPHA:96334
HP:0025015	Abnormal vascular morphology	1593	CYP27A1	ORPHA:909
HP:0025015	Abnormal vascular morphology	3949	LDLR	ORPHA:391665
HP:0025015	Abnormal vascular morphology	255738	PCSK9	ORPHA:391665
HP:0025015	Abnormal vascular morphology	26119	LDLRAP1	ORPHA:391665
HP:0025015	Abnormal vascular morphology	338	APOB	ORPHA:391665
HP:0025015	Abnormal vascular morphology	64240	ABCG5	ORPHA:391665
HP:0025015	Abnormal vascular morphology	64241	ABCG8	ORPHA:391665
HP:0025015	Abnormal vascular morphology	116519	APOA5	OMIM:145750
HP:0025015	Abnormal vascular morphology	1071	CETP	ORPHA:79506
HP:0025015	Abnormal vascular morphology	345	APOC3	ORPHA:79506
HP:0025015	Abnormal vascular morphology	4023	LPL	OMIM:238600
HP:0025015	Abnormal vascular morphology	3053	SERPIND1	OMIM:612356
HP:0025015	Abnormal vascular morphology	54538	ROBO4	OMIM:618496
HP:0025015	Abnormal vascular morphology	2591	GALNT3	OMIM:211900
HP:0025015	Abnormal vascular morphology	5337	PLD1	OMIM:212093
HP:0025015	Abnormal vascular morphology	78987	CRELD1	OMIM:606217
HP:0025015	Abnormal vascular morphology	8772	FADD	OMIM:613759
HP:0025015	Abnormal vascular morphology	8772	FADD	ORPHA:306550
HP:0025015	Abnormal vascular morphology	64220	STRA6	OMIM:601186
HP:0025015	Abnormal vascular morphology	6597	SMARCA4	OMIM:614609
HP:0025015	Abnormal vascular morphology	1857	DVL3	OMIM:616894
HP:0025015	Abnormal vascular morphology	118924	FRA10AC1	OMIM:620113
HP:0025015	Abnormal vascular morphology	375	ARF1	ORPHA:98892
HP:0025015	Abnormal vascular morphology	4131	MAP1B	ORPHA:98892
HP:0025015	Abnormal vascular morphology	23327	NEDD4L	ORPHA:98892
HP:0025015	Abnormal vascular morphology	160418	TMTC3	ORPHA:98892
HP:0025015	Abnormal vascular morphology	10564	ARFGEF2	ORPHA:98892
HP:0025015	Abnormal vascular morphology	55780	ERMARD	ORPHA:98892
HP:0025015	Abnormal vascular morphology	54453	RIN2	OMIM:613075
HP:0025015	Abnormal vascular morphology	54453	RIN2	ORPHA:217335
HP:0025015	Abnormal vascular morphology	23118	TAB2	OMIM:614980
HP:0025015	Abnormal vascular morphology	4621	MYH3	ORPHA:2990
HP:0025015	Abnormal vascular morphology	1146	CHRNG	ORPHA:2990
HP:0025015	Abnormal vascular morphology	3190	HNRNPK	ORPHA:352665
HP:0025015	Abnormal vascular morphology	3190	HNRNPK	ORPHA:453504
HP:0025015	Abnormal vascular morphology	64324	NSD1	ORPHA:821
HP:0025015	Abnormal vascular morphology	29072	SETD2	ORPHA:821
HP:0025015	Abnormal vascular morphology	10297	APC2	ORPHA:821
HP:0025015	Abnormal vascular morphology	51611	DPH5	OMIM:620070
HP:0025015	Abnormal vascular morphology	2317	FLNB	OMIM:150250
HP:0025015	Abnormal vascular morphology	613	BCR	ORPHA:261330
HP:0025015	Abnormal vascular morphology	1399	CRKL	ORPHA:261330
HP:0025015	Abnormal vascular morphology	5594	MAPK1	ORPHA:261330
HP:0025015	Abnormal vascular morphology	113246	C12orf57	OMIM:218340
HP:0025015	Abnormal vascular morphology	2201	FBN2	ORPHA:115
HP:0025015	Abnormal vascular morphology	63036	CELA2A	OMIM:618620
HP:0025015	Abnormal vascular morphology	6711	SPTBN1	OMIM:619475
HP:0025015	Abnormal vascular morphology	10056	FARSB	OMIM:613658
HP:0025015	Abnormal vascular morphology	5589	PRKCSH	OMIM:174050
HP:0025015	Abnormal vascular morphology	4796	TONSL	ORPHA:93357
HP:0025015	Abnormal vascular morphology	8985	PLOD3	OMIM:612394
HP:0025015	Abnormal vascular morphology	3417	IDH1	ORPHA:99646
HP:0025015	Abnormal vascular morphology	3423	IDS	ORPHA:217085
HP:0025015	Abnormal vascular morphology	3423	IDS	ORPHA:217093
HP:0025015	Abnormal vascular morphology	10568	SLC34A2	ORPHA:60025
HP:0025015	Abnormal vascular morphology	3977	LIFR	OMIM:601559
HP:0025015	Abnormal vascular morphology	57551	TAOK1	OMIM:619575
HP:0025015	Abnormal vascular morphology	8425	LTBP4	OMIM:613177
HP:0025015	Abnormal vascular morphology	84720	PIGO	OMIM:614749
HP:0025015	Abnormal vascular morphology	4853	NOTCH2	OMIM:610205
HP:0025015	Abnormal vascular morphology	23556	PIGN	ORPHA:280633
HP:0025015	Abnormal vascular morphology	112752	IFT43	OMIM:614099
HP:0025015	Abnormal vascular morphology	9652	SKIC3	ORPHA:84064
HP:0025015	Abnormal vascular morphology	6499	SKIC2	ORPHA:84064
HP:0025015	Abnormal vascular morphology	5500	PPP1CB	OMIM:617506
HP:0025015	Abnormal vascular morphology	2332	FMR1	ORPHA:908
HP:0025015	Abnormal vascular morphology	171019	ADAMTS19	OMIM:620067
HP:0025015	Abnormal vascular morphology	2972	BRF1	ORPHA:444072
HP:0025015	Abnormal vascular morphology	633	BGN	OMIM:300989
HP:0025015	Abnormal vascular morphology	2702	GJA5	OMIM:612474
HP:0025015	Abnormal vascular morphology	2703	GJA8	OMIM:612474
HP:0025015	Abnormal vascular morphology	79875	THSD4	OMIM:619825
HP:0025015	Abnormal vascular morphology	10293	TRAIP	OMIM:616777
HP:0025015	Abnormal vascular morphology	10157	AASS	ORPHA:2203
HP:0025015	Abnormal vascular morphology	4625	MYH7	OMIM:613426
HP:0025015	Abnormal vascular morphology	28952	CCDC22	OMIM:300963
HP:0025015	Abnormal vascular morphology	26191	PTPN22	ORPHA:397
HP:0025015	Abnormal vascular morphology	3106	HLA-B	ORPHA:397
HP:0025015	Abnormal vascular morphology	8974	P4HA2	ORPHA:397
HP:0025015	Abnormal vascular morphology	286053	NSMCE2	OMIM:617253
HP:0025015	Abnormal vascular morphology	3756	KCNH1	OMIM:135500
HP:0025015	Abnormal vascular morphology	4851	NOTCH1	ORPHA:402075
HP:0025015	Abnormal vascular morphology	140628	GATA5	ORPHA:402075
HP:0025015	Abnormal vascular morphology	4091	SMAD6	ORPHA:402075
HP:0025015	Abnormal vascular morphology	5590	PRKCZ	ORPHA:1606
HP:0025015	Abnormal vascular morphology	2563	GABRD	ORPHA:1606
HP:0025015	Abnormal vascular morphology	23013	SPEN	ORPHA:1606
HP:0025015	Abnormal vascular morphology	8510	MMP23B	ORPHA:1606
HP:0025015	Abnormal vascular morphology	7798	LUZP1	ORPHA:1606
HP:0025015	Abnormal vascular morphology	6497	SKI	ORPHA:1606
HP:0025015	Abnormal vascular morphology	10630	PDPN	ORPHA:1606
HP:0025015	Abnormal vascular morphology	3339	HSPG2	ORPHA:1606
HP:0025015	Abnormal vascular morphology	10277	UBE4B	ORPHA:1606
HP:0025015	Abnormal vascular morphology	8514	KCNAB2	ORPHA:1606
HP:0025015	Abnormal vascular morphology	473	RERE	ORPHA:1606
HP:0025015	Abnormal vascular morphology	63976	PRDM16	ORPHA:1606
HP:0025015	Abnormal vascular morphology	54897	CASZ1	ORPHA:1606
HP:0025015	Abnormal vascular morphology	9723	SEMA3E	ORPHA:138
HP:0025015	Abnormal vascular morphology	30008	EFEMP2	OMIM:614437
HP:0025015	Abnormal vascular morphology	55249	YY1AP1	OMIM:602531
HP:0025015	Abnormal vascular morphology	57104	PNPLA2	ORPHA:565612
HP:0025015	Abnormal vascular morphology	19	ABCA1	ORPHA:31150
HP:0025015	Abnormal vascular morphology	2737	GLI3	OMIM:146510
HP:0025015	Abnormal vascular morphology	5745	PTH1R	OMIM:215045
HP:0025015	Abnormal vascular morphology	123606	NIPA1	ORPHA:261183
HP:0025015	Abnormal vascular morphology	7283	TUBG1	ORPHA:261183
HP:0025015	Abnormal vascular morphology	81614	NIPA2	ORPHA:261183
HP:0025015	Abnormal vascular morphology	998	CDC42	ORPHA:487796
HP:0025015	Abnormal vascular morphology	2719	GPC3	OMIM:312870
HP:0025015	Abnormal vascular morphology	2239	GPC4	OMIM:312870
HP:0025015	Abnormal vascular morphology	3990	LIPC	ORPHA:140905
HP:0025015	Abnormal vascular morphology	335	APOA1	OMIM:618463
HP:0025015	Abnormal vascular morphology	335	APOA1	ORPHA:425
HP:0025015	Abnormal vascular morphology	84984	CEP19	OMIM:615703
HP:0025015	Abnormal vascular morphology	338328	GPIHBP1	OMIM:615947
HP:0025015	Abnormal vascular morphology	4205	MEF2A	OMIM:608320
HP:0025015	Abnormal vascular morphology	4040	LRP6	OMIM:610947
HP:0025015	Abnormal vascular morphology	3198	HOXA1	OMIM:601536
HP:0025015	Abnormal vascular morphology	64093	SMOC1	ORPHA:1106
HP:0025015	Abnormal vascular morphology	1277	COL1A1	ORPHA:287
HP:0025015	Abnormal vascular morphology	1290	COL5A2	ORPHA:287
HP:0025015	Abnormal vascular morphology	5351	PLOD1	ORPHA:1900
HP:0025015	Abnormal vascular morphology	128	ADH5	OMIM:619151
HP:0025015	Abnormal vascular morphology	2294	FOXF1	OMIM:265380
HP:0025015	Abnormal vascular morphology	7490	WT1	OMIM:608978
HP:0025015	Abnormal vascular morphology	137814	NKX2-6	ORPHA:3384
HP:0025015	Abnormal vascular morphology	23129	PLXND1	ORPHA:3384
HP:0025015	Abnormal vascular morphology	1387	CREBBP	OMIM:180849
HP:0025015	Abnormal vascular morphology	2033	EP300	OMIM:180849
HP:0025015	Abnormal vascular morphology	54916	TMEM260	OMIM:617478
HP:0025015	Abnormal vascular morphology	25981	DNAH1	ORPHA:244
HP:0025015	Abnormal vascular morphology	115948	ODAD3	ORPHA:244
HP:0025015	Abnormal vascular morphology	54768	HYDIN	ORPHA:244
HP:0025015	Abnormal vascular morphology	352909	DNAAF3	ORPHA:244
HP:0025015	Abnormal vascular morphology	27148	STK36	ORPHA:244
HP:0025015	Abnormal vascular morphology	51314	NME8	ORPHA:244
HP:0025015	Abnormal vascular morphology	92749	DRC1	ORPHA:244
HP:0025015	Abnormal vascular morphology	54970	TTC12	ORPHA:244
HP:0025015	Abnormal vascular morphology	152110	NEK10	ORPHA:244
HP:0025015	Abnormal vascular morphology	8481	OFD1	ORPHA:244
HP:0025015	Abnormal vascular morphology	2302	FOXJ1	ORPHA:244
HP:0025015	Abnormal vascular morphology	221421	RSPH9	ORPHA:244
HP:0025015	Abnormal vascular morphology	85478	CCDC65	ORPHA:244
HP:0025015	Abnormal vascular morphology	55036	CCDC40	ORPHA:244
HP:0025015	Abnormal vascular morphology	51364	ZMYND10	ORPHA:244
HP:0025015	Abnormal vascular morphology	64446	DNAI2	ORPHA:244
HP:0025015	Abnormal vascular morphology	6674	SPAG1	ORPHA:244
HP:0025015	Abnormal vascular morphology	83544	DNAL1	ORPHA:244
HP:0025015	Abnormal vascular morphology	89765	RSPH1	ORPHA:244
HP:0025015	Abnormal vascular morphology	83538	ODAD4	ORPHA:244
HP:0025015	Abnormal vascular morphology	200373	CFAP221	ORPHA:244
HP:0025015	Abnormal vascular morphology	374407	DNAJB13	ORPHA:244
HP:0025015	Abnormal vascular morphology	55172	DNAAF2	ORPHA:244
HP:0025015	Abnormal vascular morphology	161582	DNAAF4	ORPHA:244
HP:0025015	Abnormal vascular morphology	2622	GAS8	ORPHA:244
HP:0025015	Abnormal vascular morphology	23639	DNAAF11	ORPHA:244
HP:0025015	Abnormal vascular morphology	27019	DNAI1	ORPHA:244
HP:0025015	Abnormal vascular morphology	345895	RSPH4A	ORPHA:244
HP:0025015	Abnormal vascular morphology	54919	DNAAF5	ORPHA:244
HP:0025015	Abnormal vascular morphology	6103	RPGR	ORPHA:244
HP:0025015	Abnormal vascular morphology	388389	CCDC103	ORPHA:244
HP:0025015	Abnormal vascular morphology	93233	ODAD1	ORPHA:244
HP:0025015	Abnormal vascular morphology	93233	ODAD1	OMIM:615067
HP:0025015	Abnormal vascular morphology	55130	ODAD2	ORPHA:244
HP:0025015	Abnormal vascular morphology	1767	DNAH5	ORPHA:244
HP:0025015	Abnormal vascular morphology	83861	RSPH3	ORPHA:244
HP:0025015	Abnormal vascular morphology	345643	MCIDAS	ORPHA:244
HP:0025015	Abnormal vascular morphology	56683	CFAP298	ORPHA:244
HP:0025015	Abnormal vascular morphology	79925	SPEF2	ORPHA:244
HP:0025015	Abnormal vascular morphology	10309	CCNO	ORPHA:244
HP:0025015	Abnormal vascular morphology	115399	LRRC56	ORPHA:244
HP:0025015	Abnormal vascular morphology	139212	DNAAF6	ORPHA:244
HP:0025015	Abnormal vascular morphology	123872	DNAAF1	ORPHA:244
HP:0025015	Abnormal vascular morphology	85016	CFAP300	ORPHA:244
HP:0025015	Abnormal vascular morphology	339829	CCDC39	ORPHA:244
HP:0025015	Abnormal vascular morphology	8701	DNAH11	ORPHA:244
HP:0025015	Abnormal vascular morphology	1770	DNAH9	ORPHA:244
HP:0025015	Abnormal vascular morphology	246176	GAS2L2	ORPHA:244
HP:0025015	Abnormal vascular morphology	10743	RAI1	ORPHA:477817
HP:0025015	Abnormal vascular morphology	10847	SRCAP	OMIM:136140
HP:0025015	Abnormal vascular morphology	10847	SRCAP	ORPHA:2044
HP:0025015	Abnormal vascular morphology	2187	FANCB	OMIM:314390
HP:0025015	Abnormal vascular morphology	7547	ZIC3	OMIM:314390
HP:0025015	Abnormal vascular morphology	55181	SMG8	OMIM:619268
HP:0025015	Abnormal vascular morphology	374879	ZNF699	OMIM:619488
HP:0025015	Abnormal vascular morphology	7386	UQCRFS1	OMIM:618775
HP:0025015	Abnormal vascular morphology	1822	ATN1	OMIM:618494
HP:0025015	Abnormal vascular morphology	4281	MID1	ORPHA:2745
HP:0025015	Abnormal vascular morphology	8241	RBM10	ORPHA:2886
HP:0025015	Abnormal vascular morphology	7703	PCGF2	OMIM:618371
HP:0025015	Abnormal vascular morphology	1289	COL5A1	OMIM:619329
HP:0025015	Abnormal vascular morphology	538	ATP7A	OMIM:304150
HP:0025015	Abnormal vascular morphology	10526	IPO8	OMIM:619472
HP:0025015	Abnormal vascular morphology	64135	IFIH1	OMIM:182250
HP:0025015	Abnormal vascular morphology	10491	CRTAP	OMIM:610682
HP:0025015	Abnormal vascular morphology	340419	RSPO2	OMIM:618021
HP:0025015	Abnormal vascular morphology	7454	WAS	OMIM:301000
HP:0025015	Abnormal vascular morphology	64127	NOD2	ORPHA:90340
HP:0025015	Abnormal vascular morphology	659	BMPR2	OMIM:178600
HP:0025015	Abnormal vascular morphology	10621	POLR3F	OMIM:619872
HP:0025015	Abnormal vascular morphology	672	BRCA1	ORPHA:84
HP:0025015	Abnormal vascular morphology	10459	MAD2L2	ORPHA:84
HP:0025015	Abnormal vascular morphology	7516	XRCC2	ORPHA:84
HP:0025015	Abnormal vascular morphology	29089	UBE2T	ORPHA:84
HP:0025015	Abnormal vascular morphology	675	BRCA2	ORPHA:84
HP:0025015	Abnormal vascular morphology	55120	FANCL	ORPHA:84
HP:0025015	Abnormal vascular morphology	2177	FANCD2	ORPHA:84
HP:0025015	Abnormal vascular morphology	2175	FANCA	ORPHA:84
HP:0025015	Abnormal vascular morphology	2176	FANCC	ORPHA:84
HP:0025015	Abnormal vascular morphology	2178	FANCE	ORPHA:84
HP:0025015	Abnormal vascular morphology	2188	FANCF	ORPHA:84
HP:0025015	Abnormal vascular morphology	2189	FANCG	ORPHA:84
HP:0025015	Abnormal vascular morphology	5888	RAD51	ORPHA:84
HP:0025015	Abnormal vascular morphology	5889	RAD51C	ORPHA:84
HP:0025015	Abnormal vascular morphology	55159	RFWD3	ORPHA:84
HP:0025015	Abnormal vascular morphology	83990	BRIP1	ORPHA:84
HP:0025015	Abnormal vascular morphology	57697	FANCM	ORPHA:84
HP:0025015	Abnormal vascular morphology	79728	PALB2	ORPHA:84
HP:0025015	Abnormal vascular morphology	84464	SLX4	ORPHA:84
HP:0025015	Abnormal vascular morphology	2072	ERCC4	ORPHA:84
HP:0025015	Abnormal vascular morphology	55215	FANCI	ORPHA:84
HP:0025015	Abnormal vascular morphology	7319	UBE2A	ORPHA:163956
HP:0025015	Abnormal vascular morphology	10283	CWC27	ORPHA:166035
HP:0025015	Abnormal vascular morphology	440275	EIF2AK4	OMIM:234810
HP:0025015	Abnormal vascular morphology	54345	SOX18	OMIM:137940
HP:0025015	Abnormal vascular morphology	9508	ADAMTS3	ORPHA:2136
HP:0025015	Abnormal vascular morphology	5318	PKP2	OMIM:609040
HP:0025015	Abnormal vascular morphology	10516	FBLN5	ORPHA:90348
HP:0025015	Abnormal vascular morphology	10516	FBLN5	ORPHA:90349
HP:0025015	Abnormal vascular morphology	5832	ALDH18A1	ORPHA:90348
HP:0025015	Abnormal vascular morphology	4052	LTBP1	ORPHA:90349
HP:0025015	Abnormal vascular morphology	54820	NDE1	ORPHA:2177
HP:0025015	Abnormal vascular morphology	29925	GMPPB	ORPHA:363623
HP:0025015	Abnormal vascular morphology	54914	FOCAD	OMIM:619991
HP:0025015	Abnormal vascular morphology	4010	LMX1B	ORPHA:2614
HP:0025015	Abnormal vascular morphology	1376	CPT2	OMIM:608836
HP:0025015	Abnormal vascular morphology	5310	PKD1	OMIM:173900
HP:0025015	Abnormal vascular morphology	23545	ATP6V0A2	ORPHA:2834
HP:0025015	Abnormal vascular morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025015	Abnormal vascular morphology	523	ATP6V1A	ORPHA:357074
HP:0025015	Abnormal vascular morphology	85465	SELENOI	ORPHA:506353
HP:0025015	Abnormal vascular morphology	4514	MT-CO3	OMIM:535000
HP:0025015	Abnormal vascular morphology	4519	MT-CYB	OMIM:535000
HP:0025015	Abnormal vascular morphology	4541	MT-ND6	OMIM:535000
HP:0025015	Abnormal vascular morphology	4540	MT-ND5	OMIM:535000
HP:0025015	Abnormal vascular morphology	4539	MT-ND4L	OMIM:535000
HP:0025015	Abnormal vascular morphology	4535	MT-ND1	OMIM:535000
HP:0025015	Abnormal vascular morphology	4536	MT-ND2	OMIM:535000
HP:0025015	Abnormal vascular morphology	4538	MT-ND4	OMIM:535000
HP:0025015	Abnormal vascular morphology	4750	NEK1	ORPHA:2751
HP:0025015	Abnormal vascular morphology	2161	F12	ORPHA:330
HP:0025015	Abnormal vascular morphology	7439	BEST1	OMIM:193220
HP:0025015	Abnormal vascular morphology	7287	TULP1	OMIM:600132
HP:0025015	Abnormal vascular morphology	9129	PRPF3	OMIM:601414
HP:0025015	Abnormal vascular morphology	79796	ALG9	ORPHA:79328
HP:0025015	Abnormal vascular morphology	427	ASAH1	ORPHA:333
HP:0025015	Abnormal vascular morphology	427	ASAH1	OMIM:228000
HP:0025015	Abnormal vascular morphology	5476	CTSA	ORPHA:351
HP:0025015	Abnormal vascular morphology	5476	CTSA	OMIM:256540
HP:0025015	Abnormal vascular morphology	3074	HEXB	ORPHA:309155
HP:0025015	Abnormal vascular morphology	3074	HEXB	OMIM:268800
HP:0025015	Abnormal vascular morphology	2581	GALC	ORPHA:206436
HP:0025015	Abnormal vascular morphology	5660	PSAP	ORPHA:206436
HP:0025015	Abnormal vascular morphology	79583	TMEM231	ORPHA:2752
HP:0025015	Abnormal vascular morphology	3073	HEXA	OMIM:272800
HP:0025015	Abnormal vascular morphology	1615	DARS1	OMIM:615281
HP:0025015	Abnormal vascular morphology	2760	GM2A	ORPHA:309246
HP:0025015	Abnormal vascular morphology	10730	YME1L1	OMIM:617302
HP:0025015	Abnormal vascular morphology	1718	DHCR24	ORPHA:35107
HP:0025015	Abnormal vascular morphology	6910	TBX5	ORPHA:392
HP:0025015	Abnormal vascular morphology	27125	AFF4	OMIM:616368
HP:0025015	Abnormal vascular morphology	134701	RIPPLY2	ORPHA:2311
HP:0025015	Abnormal vascular morphology	10683	DLL3	ORPHA:2311
HP:0025015	Abnormal vascular morphology	3955	LFNG	ORPHA:2311
HP:0025015	Abnormal vascular morphology	145873	MESP2	ORPHA:2311
HP:0025015	Abnormal vascular morphology	745	MYRF	OMIM:618280
HP:0025015	Abnormal vascular morphology	8243	SMC1A	OMIM:301044
HP:0025015	Abnormal vascular morphology	4838	NODAL	OMIM:270100
HP:0025015	Abnormal vascular morphology	5296	PIK3R2	OMIM:603387
HP:0025015	Abnormal vascular morphology	51726	DNAJB11	ORPHA:730
HP:0025015	Abnormal vascular morphology	23193	GANAB	ORPHA:730
HP:0025015	Abnormal vascular morphology	5311	PKD2	ORPHA:730
HP:0025015	Abnormal vascular morphology	29880	ALG5	ORPHA:730
HP:0025015	Abnormal vascular morphology	9742	IFT140	ORPHA:730
HP:0025015	Abnormal vascular morphology	80114	BICC1	ORPHA:730
HP:0025015	Abnormal vascular morphology	129563	DIS3L2	OMIM:267000
HP:0025015	Abnormal vascular morphology	4613	MYCN	ORPHA:391641
HP:0025015	Abnormal vascular morphology	4613	MYCN	OMIM:164280
HP:0025015	Abnormal vascular morphology	8802	SUCLG1	ORPHA:17
HP:0025015	Abnormal vascular morphology	56006	SMG9	OMIM:616920
HP:0025015	Abnormal vascular morphology	2260	FGFR1	ORPHA:2396
HP:0025015	Abnormal vascular morphology	9993	DGCR2	OMIM:192430
HP:0025015	Abnormal vascular morphology	8220	ESS2	OMIM:192430
HP:0025015	Abnormal vascular morphology	8214	DGCR6	OMIM:192430
HP:0025015	Abnormal vascular morphology	54487	DGCR8	OMIM:192430
HP:0025015	Abnormal vascular morphology	55191	NADSYN1	OMIM:618845
HP:0025015	Abnormal vascular morphology	8496	PPFIBP1	OMIM:620024
HP:0025015	Abnormal vascular morphology	5718	PSMD12	ORPHA:529962
HP:0025015	Abnormal vascular morphology	2186	BPTF	ORPHA:529962
HP:0025015	Abnormal vascular morphology	808	CALM3	OMIM:618782
HP:0025015	Abnormal vascular morphology	54892	NCAPG2	OMIM:618460
HP:0025015	Abnormal vascular morphology	55784	MCTP2	ORPHA:1596
HP:0025015	Abnormal vascular morphology	81857	MED25	ORPHA:464738
HP:0025015	Abnormal vascular morphology	5567	PRKACB	OMIM:619143
HP:0025015	Abnormal vascular morphology	51780	KDM3B	OMIM:618846
HP:0025015	Abnormal vascular morphology	3712	IVD	OMIM:243500
HP:0025015	Abnormal vascular morphology	5095	PCCA	OMIM:606054
HP:0025015	Abnormal vascular morphology	5096	PCCB	OMIM:606054
HP:0025015	Abnormal vascular morphology	10535	RNASEH2A	ORPHA:51
HP:0025015	Abnormal vascular morphology	84153	RNASEH2C	ORPHA:51
HP:0025015	Abnormal vascular morphology	25939	SAMHD1	ORPHA:51
HP:0025015	Abnormal vascular morphology	79621	RNASEH2B	ORPHA:51
HP:0025015	Abnormal vascular morphology	103	ADAR	ORPHA:51
HP:0025015	Abnormal vascular morphology	100147744	RNU7-1	ORPHA:51
HP:0025015	Abnormal vascular morphology	134353	LSM11	ORPHA:51
HP:0025015	Abnormal vascular morphology	4210	MEFV	ORPHA:3243
HP:0025015	Abnormal vascular morphology	4210	MEFV	OMIM:608068
HP:0025015	Abnormal vascular morphology	1776	DNASE1L3	ORPHA:36412
HP:0025015	Abnormal vascular morphology	80232	WDR26	ORPHA:513456
HP:0025015	Abnormal vascular morphology	80232	WDR26	OMIM:617616
HP:0025015	Abnormal vascular morphology	79989	IFT56	OMIM:619534
HP:0025015	Abnormal vascular morphology	93	ACVR2B	OMIM:613751
HP:0025015	Abnormal vascular morphology	220136	CFAP53	OMIM:614779
HP:0025015	Abnormal vascular morphology	55636	CHD7	OMIM:214800
HP:0025015	Abnormal vascular morphology	100128908	CIROP	OMIM:619702
HP:0025015	Abnormal vascular morphology	10992	SF3B2	OMIM:164210
HP:0025015	Abnormal vascular morphology	118856	MMP21	OMIM:616749
HP:0025015	Abnormal vascular morphology	10525	HYOU1	OMIM:233600
HP:0025015	Abnormal vascular morphology	7317	UBA1	OMIM:301054
HP:0025015	Abnormal vascular morphology	51473	DCDC2	ORPHA:84081
HP:0025015	Abnormal vascular morphology	91147	TMEM67	ORPHA:84081
HP:0025015	Abnormal vascular morphology	6772	STAT1	ORPHA:391487
HP:0025015	Abnormal vascular morphology	10043	TOM1	ORPHA:391487
HP:0025015	Abnormal vascular morphology	6885	MAP3K7	OMIM:157800
HP:0025015	Abnormal vascular morphology	2697	GJA1	ORPHA:2248
HP:0025015	Abnormal vascular morphology	5518	PPP2R1A	ORPHA:457284
HP:0025015	Abnormal vascular morphology	10195	ALG3	ORPHA:79321
HP:0025015	Abnormal vascular morphology	348	APOE	ORPHA:412
HP:0025015	Abnormal vascular morphology	1581	CYP7A1	ORPHA:209902
HP:0025015	Abnormal vascular morphology	4488	MSX2	ORPHA:60015
HP:0025015	Abnormal vascular morphology	60529	ALX4	ORPHA:60015
HP:0025015	Abnormal vascular morphology	11117	EMILIN1	OMIM:620080
HP:0025015	Abnormal vascular morphology	4953	ODC1	OMIM:619075
HP:0025015	Abnormal vascular morphology	4953	ODC1	ORPHA:544488
HP:0025015	Abnormal vascular morphology	55768	NGLY1	OMIM:615273
HP:0025015	Abnormal vascular morphology	8294	H4C9	OMIM:619951
HP:0025015	Abnormal vascular morphology	3020	H3-3A	OMIM:619720
HP:0025015	Abnormal vascular morphology	1182	CLCN3	OMIM:619512
HP:0025015	Abnormal vascular morphology	1182	CLCN3	OMIM:619517
HP:0025015	Abnormal vascular morphology	6477	SIAH1	OMIM:619314
HP:0025015	Abnormal vascular morphology	85365	ALG2	OMIM:607906
HP:0025015	Abnormal vascular morphology	51111	KMT5B	OMIM:617788
HP:0025015	Abnormal vascular morphology	1641	DCX	ORPHA:2148
HP:0025015	Abnormal vascular morphology	5361	PLXNA1	OMIM:619955
HP:0025015	Abnormal vascular morphology	5048	PAFAH1B1	OMIM:607432
HP:0025015	Abnormal vascular morphology	5048	PAFAH1B1	ORPHA:95232
HP:0025015	Abnormal vascular morphology	57688	ZSWIM6	OMIM:603671
HP:0025015	Abnormal vascular morphology	207	AKT1	OMIM:176920
HP:0025015	Abnormal vascular morphology	11235	PDCD10	ORPHA:221061
HP:0025015	Abnormal vascular morphology	11146	GLMN	ORPHA:83454
HP:0025015	Abnormal vascular morphology	7010	TEK	OMIM:600195
HP:0025015	Abnormal vascular morphology	7249	TSC2	OMIM:613254
HP:0025015	Abnormal vascular morphology	7249	TSC2	ORPHA:805
HP:0025015	Abnormal vascular morphology	7249	TSC2	ORPHA:538
HP:0025015	Abnormal vascular morphology	7249	TSC2	OMIM:606690
HP:0025015	Abnormal vascular morphology	3458	IFNG	OMIM:613254
HP:0025015	Abnormal vascular morphology	3458	IFNG	ORPHA:805
HP:0025015	Abnormal vascular morphology	7248	TSC1	ORPHA:805
HP:0025015	Abnormal vascular morphology	7248	TSC1	OMIM:191100
HP:0025015	Abnormal vascular morphology	7248	TSC1	ORPHA:538
HP:0025015	Abnormal vascular morphology	7248	TSC1	OMIM:606690
HP:0025015	Abnormal vascular morphology	92949	ADAMTSL1	ORPHA:521445
HP:0025015	Abnormal vascular morphology	6135	RPL11	ORPHA:124
HP:0025015	Abnormal vascular morphology	6138	RPL15	ORPHA:124
HP:0025015	Abnormal vascular morphology	6229	RPS24	ORPHA:124
HP:0025015	Abnormal vascular morphology	6125	RPL5	ORPHA:124
HP:0025015	Abnormal vascular morphology	6204	RPS10	ORPHA:124
HP:0025015	Abnormal vascular morphology	6224	RPS20	ORPHA:124
HP:0025015	Abnormal vascular morphology	6165	RPL35A	ORPHA:124
HP:0025015	Abnormal vascular morphology	6223	RPS19	ORPHA:124
HP:0025015	Abnormal vascular morphology	6232	RPS27	ORPHA:124
HP:0025015	Abnormal vascular morphology	6231	RPS26	ORPHA:124
HP:0025015	Abnormal vascular morphology	11224	RPL35	ORPHA:124
HP:0025015	Abnormal vascular morphology	6160	RPL31	ORPHA:124
HP:0025015	Abnormal vascular morphology	6218	RPS17	ORPHA:124
HP:0025015	Abnormal vascular morphology	6201	RPS7	ORPHA:124
HP:0025015	Abnormal vascular morphology	6155	RPL27	ORPHA:124
HP:0025015	Abnormal vascular morphology	6154	RPL26	ORPHA:124
HP:0025015	Abnormal vascular morphology	6210	RPS15A	ORPHA:124
HP:0025015	Abnormal vascular morphology	90121	TSR2	ORPHA:124
HP:0025015	Abnormal vascular morphology	6141	RPL18	ORPHA:124
HP:0025015	Abnormal vascular morphology	6235	RPS29	ORPHA:124
HP:0025015	Abnormal vascular morphology	6234	RPS28	ORPHA:124
HP:0025015	Abnormal vascular morphology	4907	NT5E	ORPHA:289601
HP:0025015	Abnormal vascular morphology	567	B2M	ORPHA:314652
HP:0025015	Abnormal vascular morphology	2202	EFEMP1	ORPHA:98977
HP:0025015	Abnormal vascular morphology	1545	CYP1B1	ORPHA:98977
HP:0025015	Abnormal vascular morphology	4653	MYOC	ORPHA:98977
HP:0025015	Abnormal vascular morphology	3490	IGFBP7	OMIM:614224
HP:0025015	Abnormal vascular morphology	51434	ANAPC7	OMIM:619699
HP:0025015	Abnormal vascular morphology	2859	GPR35	ORPHA:171
HP:0025015	Abnormal vascular morphology	10507	SEMA4D	ORPHA:171
HP:0025015	Abnormal vascular morphology	4485	MST1	ORPHA:171
HP:0025015	Abnormal vascular morphology	6925	TCF4	ORPHA:171
HP:0025015	Abnormal vascular morphology	84667	HES7	OMIM:613686
HP:0025015	Abnormal vascular morphology	1906	EDN1	ORPHA:137888
HP:0025015	Abnormal vascular morphology	5332	PLCB4	ORPHA:137888
HP:0025015	Abnormal vascular morphology	2773	GNAI3	ORPHA:137888
HP:0025015	Abnormal vascular morphology	2157	F8	ORPHA:169805
HP:0025015	Abnormal vascular morphology	4774	NFIA	ORPHA:401986
HP:0025015	Abnormal vascular morphology	55788	LMBRD1	ORPHA:79284
HP:0025015	Abnormal vascular morphology	284058	KANSL1	ORPHA:363965
HP:0025015	Abnormal vascular morphology	284058	KANSL1	ORPHA:363958
HP:0025015	Abnormal vascular morphology	6678	SPARC	OMIM:616507
HP:0025015	Abnormal vascular morphology	165918	RNF168	ORPHA:420741
HP:0025015	Abnormal vascular morphology	100131801	PET100	OMIM:619055
HP:0025015	Abnormal vascular morphology	92935	MARS2	OMIM:616430
HP:0025015	Abnormal vascular morphology	9894	TELO2	ORPHA:488642
HP:0025015	Abnormal vascular morphology	145173	B3GLCT	ORPHA:709
HP:0025015	Abnormal vascular morphology	1656	DDX6	OMIM:618653
HP:0025015	Abnormal vascular morphology	5293	PIK3CD	ORPHA:221139
HP:0025015	Abnormal vascular morphology	90417	KNSTRN	ORPHA:221139
HP:0025015	Abnormal vascular morphology	5580	PRKCD	OMIM:615559
HP:0025015	Abnormal vascular morphology	8314	BAP1	ORPHA:50251
HP:0025015	Abnormal vascular morphology	58499	ZNF462	OMIM:618619
HP:0025015	Abnormal vascular morphology	2131	EXT1	ORPHA:321
HP:0025015	Abnormal vascular morphology	2132	EXT2	ORPHA:321
HP:0025015	Abnormal vascular morphology	55033	FKBP14	OMIM:614557
HP:0025015	Abnormal vascular morphology	7528	YY1	OMIM:617557
HP:0025015	Abnormal vascular morphology	168507	PKD1L1	OMIM:617205
HP:0025015	Abnormal vascular morphology	8854	ALDH1A2	OMIM:620025
HP:0025015	Abnormal vascular morphology	2324	FLT4	OMIM:618780
HP:0025015	Abnormal vascular morphology	2657	GDF1	OMIM:208530
HP:0025015	Abnormal vascular morphology	4351	MPI	OMIM:602579
HP:0025015	Abnormal vascular morphology	3265	HRAS	OMIM:218040
HP:0025015	Abnormal vascular morphology	79709	COLGALT1	OMIM:618360
HP:0025015	Abnormal vascular morphology	4668	NAGA	OMIM:609242
HP:0025015	Abnormal vascular morphology	6439	SFTPB	OMIM:265120
HP:0025015	Abnormal vascular morphology	10128	LRPPRC	OMIM:220111
HP:0025015	Abnormal vascular morphology	9620	CELSR1	OMIM:619319
HP:0025015	Abnormal vascular morphology	1725	DHPS	OMIM:618480
HP:0025015	Abnormal vascular morphology	2990	GUSB	ORPHA:584
HP:0025015	Abnormal vascular morphology	3110	MNX1	ORPHA:1552
HP:0025015	Abnormal vascular morphology	3516	RBPJ	ORPHA:974
HP:0025015	Abnormal vascular morphology	57572	DOCK6	ORPHA:974
HP:0025015	Abnormal vascular morphology	285203	EOGT	ORPHA:974
HP:0025015	Abnormal vascular morphology	54567	DLL4	ORPHA:974
HP:0025015	Abnormal vascular morphology	23299	BICD2	OMIM:618291
HP:0025015	Abnormal vascular morphology	2639	GCDH	ORPHA:25
HP:0025015	Abnormal vascular morphology	1785	DNM2	OMIM:615368
HP:0025015	Abnormal vascular morphology	3703	STT3A	OMIM:619714
HP:0025015	Abnormal vascular morphology	5054	SERPINE1	ORPHA:465
HP:0025015	Abnormal vascular morphology	2243	FGA	OMIM:202400
HP:0025015	Abnormal vascular morphology	2244	FGB	OMIM:202400
HP:0025015	Abnormal vascular morphology	2266	FGG	OMIM:202400
HP:0025015	Abnormal vascular morphology	3593	IL12B	ORPHA:3287
HP:0025015	Abnormal vascular morphology	6945	MLX	ORPHA:3287
HP:0025015	Abnormal vascular morphology	2767	GNA11	ORPHA:1556
HP:0025015	Abnormal vascular morphology	151188	ARL6IP6	ORPHA:1556
HP:0025015	Abnormal vascular morphology	6392	SDHD	OMIM:168000
HP:0025015	Abnormal vascular morphology	5290	PIK3CA	ORPHA:276280
HP:0025015	Abnormal vascular morphology	9820	CUL7	ORPHA:2616
HP:0025015	Abnormal vascular morphology	23363	OBSL1	ORPHA:2616
HP:0025015	Abnormal vascular morphology	83987	CCDC8	ORPHA:2616
HP:0025015	Abnormal vascular morphology	1729	DIAPH1	ORPHA:2573
HP:0025015	Abnormal vascular morphology	5627	PROS1	ORPHA:743
HP:0025015	Abnormal vascular morphology	5624	PROC	ORPHA:745
HP:0025015	Abnormal vascular morphology	56922	MCCC1	ORPHA:6
HP:0025015	Abnormal vascular morphology	64087	MCCC2	ORPHA:6
HP:0025015	Abnormal vascular morphology	326	AIRE	ORPHA:3453
HP:0025015	Abnormal vascular morphology	2050	EPHB4	ORPHA:137667
HP:0025015	Abnormal vascular morphology	2050	EPHB4	ORPHA:1053
HP:0025015	Abnormal vascular morphology	55109	AGGF1	ORPHA:90308
HP:0025015	Abnormal vascular morphology	6850	SYK	OMIM:619381
HP:0025015	Abnormal vascular morphology	5238	PGM3	ORPHA:443811
HP:0025015	Abnormal vascular morphology	5238	PGM3	OMIM:615816
HP:0025015	Abnormal vascular morphology	10095	ARPC1B	OMIM:617718
HP:0025015	Abnormal vascular morphology	3594	IL12RB1	ORPHA:319552
HP:0025015	Abnormal vascular morphology	2304	FOXE1	ORPHA:319487
HP:0025015	Abnormal vascular morphology	3026	HABP2	ORPHA:319487
HP:0025015	Abnormal vascular morphology	9562	MINPP1	ORPHA:319487
HP:0025017	Capillary fragility	84196	USP48	ORPHA:96253
HP:0025017	Capillary fragility	7157	TP53	ORPHA:96253
HP:0025017	Capillary fragility	9101	USP8	ORPHA:96253
HP:0025017	Capillary fragility	64072	CDH23	ORPHA:96253
HP:0025017	Capillary fragility	2908	NR3C1	ORPHA:96253
HP:0025017	Capillary fragility	673	BRAF	ORPHA:96253
HP:0025017	Capillary fragility	546	ATRX	ORPHA:96253
HP:0025018	Abnormal capillary physiology	84196	USP48	ORPHA:96253
HP:0025018	Abnormal capillary physiology	7157	TP53	ORPHA:96253
HP:0025018	Abnormal capillary physiology	9101	USP8	ORPHA:96253
HP:0025018	Abnormal capillary physiology	64072	CDH23	ORPHA:96253
HP:0025018	Abnormal capillary physiology	2908	NR3C1	ORPHA:96253
HP:0025018	Abnormal capillary physiology	673	BRAF	ORPHA:96253
HP:0025018	Abnormal capillary physiology	546	ATRX	ORPHA:96253
HP:0025018	Abnormal capillary physiology	7512	XPNPEP2	ORPHA:100057
HP:0025018	Abnormal capillary physiology	3932	LCK	OMIM:615758
HP:0025018	Abnormal capillary physiology	2492	FSHR	ORPHA:64739
HP:0025019	Arterial rupture	1281	COL3A1	OMIM:130050
HP:0025019	Arterial rupture	1277	COL1A1	ORPHA:287
HP:0025019	Arterial rupture	1277	COL1A1	OMIM:619115
HP:0025019	Arterial rupture	1289	COL5A1	ORPHA:287
HP:0025019	Arterial rupture	1290	COL5A2	ORPHA:287
HP:0025019	Arterial rupture	5351	PLOD1	OMIM:225400
HP:0025019	Arterial rupture	5351	PLOD1	ORPHA:1900
HP:0025019	Arterial rupture	1278	COL1A2	OMIM:619120
HP:0025019	Arterial rupture	55033	FKBP14	ORPHA:300179
HP:0025019	Arterial rupture	8985	PLOD3	OMIM:612394
HP:0009380	Aplasia of the fingers	157570	ESCO2	OMIM:268300
HP:0009380	Aplasia of the fingers	64840	PORCN	OMIM:305600
HP:0009380	Aplasia of the fingers	7480	WNT10B	OMIM:225300
HP:0009380	Aplasia of the fingers	7476	WNT7A	OMIM:228930
HP:0009380	Aplasia of the fingers	7476	WNT7A	ORPHA:2879
HP:0009380	Aplasia of the fingers	7476	WNT7A	OMIM:276820
HP:0009380	Aplasia of the fingers	9401	RECQL4	ORPHA:1225
HP:0009380	Aplasia of the fingers	25836	NIPBL	OMIM:122470
HP:0009380	Aplasia of the fingers	6154	RPL26	OMIM:614900
HP:0009380	Aplasia of the fingers	64093	SMOC1	OMIM:206920
HP:0009380	Aplasia of the fingers	64093	SMOC1	ORPHA:1106
HP:0009380	Aplasia of the fingers	1749	DLX5	OMIM:183600
HP:0009380	Aplasia of the fingers	10262	SF3B4	ORPHA:1788
HP:0009380	Aplasia of the fingers	55636	CHD7	OMIM:214800
HP:0009380	Aplasia of the fingers	727857	BHLHA9	ORPHA:1986
HP:0009380	Aplasia of the fingers	2697	GJA1	OMIM:186100
HP:0009380	Aplasia of the fingers	526	ATP6V1B2	OMIM:124480
HP:0009380	Aplasia of the fingers	9742	IFT140	OMIM:266920
HP:0009380	Aplasia of the fingers	6926	TBX3	OMIM:181450
HP:0009380	Aplasia of the fingers	2019	EN1	OMIM:619218
HP:0009380	Aplasia of the fingers	50814	NSDHL	OMIM:308050
HP:0009380	Aplasia of the fingers	658	BMPR1B	OMIM:609441
HP:0009380	Aplasia of the fingers	4750	NEK1	ORPHA:2751
HP:0009380	Aplasia of the fingers	2188	FANCF	OMIM:603467
HP:0009380	Aplasia of the fingers	2072	ERCC4	OMIM:615272
HP:0009380	Aplasia of the fingers	5889	RAD51C	OMIM:613390
HP:0009380	Aplasia of the fingers	2176	FANCC	OMIM:227645
HP:0009380	Aplasia of the fingers	6910	TBX5	ORPHA:392
HP:0009380	Aplasia of the fingers	6910	TBX5	OMIM:142900
HP:0009380	Aplasia of the fingers	55120	FANCL	OMIM:614083
HP:0009380	Aplasia of the fingers	6651	SON	ORPHA:500150
HP:0009380	Aplasia of the fingers	340419	RSPO2	OMIM:618022
HP:0009380	Aplasia of the fingers	2187	FANCB	OMIM:300514
HP:0009380	Aplasia of the fingers	57167	SALL4	OMIM:147750
HP:0009380	Aplasia of the fingers	57167	SALL4	OMIM:607323
HP:0009380	Aplasia of the fingers	84464	SLX4	OMIM:613951
HP:0009380	Aplasia of the fingers	8452	CUL3	OMIM:619239
HP:0009380	Aplasia of the fingers	5718	PSMD12	OMIM:617516
HP:0009380	Aplasia of the fingers	9939	RBM8A	OMIM:274000
HP:0009380	Aplasia of the fingers	6223	RPS19	OMIM:105650
HP:0009380	Aplasia of the fingers	6223	RPS19	ORPHA:124
HP:0009380	Aplasia of the fingers	6135	RPL11	ORPHA:124
HP:0009380	Aplasia of the fingers	6138	RPL15	ORPHA:124
HP:0009380	Aplasia of the fingers	6229	RPS24	ORPHA:124
HP:0009380	Aplasia of the fingers	6125	RPL5	ORPHA:124
HP:0009380	Aplasia of the fingers	6204	RPS10	ORPHA:124
HP:0009380	Aplasia of the fingers	6224	RPS20	ORPHA:124
HP:0009380	Aplasia of the fingers	6165	RPL35A	ORPHA:124
HP:0009380	Aplasia of the fingers	2623	GATA1	ORPHA:124
HP:0009380	Aplasia of the fingers	6232	RPS27	ORPHA:124
HP:0009380	Aplasia of the fingers	6231	RPS26	ORPHA:124
HP:0009380	Aplasia of the fingers	11224	RPL35	ORPHA:124
HP:0009380	Aplasia of the fingers	6160	RPL31	ORPHA:124
HP:0009380	Aplasia of the fingers	6218	RPS17	ORPHA:124
HP:0009380	Aplasia of the fingers	6201	RPS7	ORPHA:124
HP:0009380	Aplasia of the fingers	6155	RPL27	ORPHA:124
HP:0009380	Aplasia of the fingers	6210	RPS15A	ORPHA:124
HP:0009380	Aplasia of the fingers	90121	TSR2	ORPHA:124
HP:0009380	Aplasia of the fingers	6141	RPL18	ORPHA:124
HP:0009380	Aplasia of the fingers	6235	RPS29	ORPHA:124
HP:0009380	Aplasia of the fingers	6234	RPS28	ORPHA:124
HP:0009380	Aplasia of the fingers	51816	ADA2	ORPHA:124
HP:0009380	Aplasia of the fingers	2178	FANCE	OMIM:600901
HP:0009380	Aplasia of the fingers	54101	RIPK4	OMIM:263650
HP:0009380	Aplasia of the fingers	54101	RIPK4	ORPHA:1234
HP:0009380	Aplasia of the fingers	55159	RFWD3	OMIM:617784
HP:0009380	Aplasia of the fingers	5888	RAD51	OMIM:617244
HP:0009380	Aplasia of the fingers	2175	FANCA	OMIM:227650
HP:0009380	Aplasia of the fingers	55215	FANCI	OMIM:609053
HP:0009380	Aplasia of the fingers	2263	FGFR2	ORPHA:2363
HP:0009380	Aplasia of the fingers	2261	FGFR3	ORPHA:2363
HP:0009380	Aplasia of the fingers	2255	FGF10	ORPHA:2363
HP:0009380	Aplasia of the fingers	29980	DONSON	OMIM:251230
HP:0009380	Aplasia of the fingers	9896	FIG4	ORPHA:3472
HP:0009380	Aplasia of the fingers	55697	VAC14	ORPHA:3472
HP:0009380	Aplasia of the fingers	7516	XRCC2	OMIM:617247
HP:0009380	Aplasia of the fingers	2177	FANCD2	OMIM:227646
HP:0009380	Aplasia of the fingers	64327	LMBR1	ORPHA:93321
HP:0009380	Aplasia of the fingers	6469	SHH	ORPHA:93321
HP:0009380	Aplasia of the fingers	7204	TRIO	ORPHA:476126
HP:0009380	Aplasia of the fingers	1954	MEGF8	OMIM:614976
HP:0009380	Aplasia of the fingers	4000	LMNA	OMIM:610140
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	3106	HLA-B	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	OMIM:181000
HP:0025021	Abnormal erythrocyte sedimentation rate	8974	P4HA2	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	9663	LPIN2	OMIM:609628
HP:0025021	Abnormal erythrocyte sedimentation rate	144811	LACC1	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	4282	MIF	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	3569	IL6	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	29775	CARD10	OMIM:619632
HP:0025021	Abnormal erythrocyte sedimentation rate	11277	TREX1	OMIM:192315
HP:0025021	Abnormal erythrocyte sedimentation rate	11277	TREX1	OMIM:610448
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	919	CD247	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	919	CD247	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	3702	ITK	OMIM:613011
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	OMIM:191900
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	OMIM:607115
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	ORPHA:575
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	ORPHA:1451
HP:0025021	Abnormal erythrocyte sedimentation rate	27178	IL37	OMIM:619398
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	OMIM:260920
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	ORPHA:343
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	OMIM:610377
HP:0025021	Abnormal erythrocyte sedimentation rate	5580	PRKCD	OMIM:615559
HP:0025021	Abnormal erythrocyte sedimentation rate	6696	SPP1	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	3654	IRAK1	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	1493	CTLA4	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	3115	HLA-DPB1	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	5657	PRTN3	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	3113	HLA-DPA1	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	7040	TGFB1	ORPHA:1328
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	ORPHA:342
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	OMIM:249100
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	ORPHA:3243
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	OMIM:608068
HP:0025021	Abnormal erythrocyte sedimentation rate	55315	SLC29A3	OMIM:602782
HP:0025021	Abnormal erythrocyte sedimentation rate	7317	UBA1	OMIM:301054
HP:0025021	Abnormal erythrocyte sedimentation rate	57169	ZNFX1	OMIM:619644
HP:0025021	Abnormal erythrocyte sedimentation rate	1314	COPA	OMIM:616414
HP:0025021	Abnormal erythrocyte sedimentation rate	51816	ADA2	OMIM:615688
HP:0025021	Abnormal erythrocyte sedimentation rate	3459	IFNGR1	OMIM:209950
HP:0025021	Abnormal erythrocyte sedimentation rate	843	CASP10	OMIM:603909
HP:0025021	Abnormal erythrocyte sedimentation rate	3557	IL1RN	OMIM:612852
HP:0025021	Abnormal erythrocyte sedimentation rate	91662	NLRP12	OMIM:611762
HP:0025021	Abnormal erythrocyte sedimentation rate	7132	TNFRSF1A	ORPHA:32960
HP:0025021	Abnormal erythrocyte sedimentation rate	7132	TNFRSF1A	OMIM:142680
HP:0025021	Abnormal erythrocyte sedimentation rate	51371	POMP	OMIM:618048
HP:0025021	Abnormal erythrocyte sedimentation rate	5692	PSMB4	OMIM:617591
HP:0025021	Abnormal erythrocyte sedimentation rate	5698	PSMB9	OMIM:617591
HP:0025021	Abnormal erythrocyte sedimentation rate	3930	LBR	OMIM:613471
HP:0025021	Abnormal erythrocyte sedimentation rate	340061	STING1	OMIM:615934
HP:0025021	Abnormal erythrocyte sedimentation rate	10095	ARPC1B	OMIM:617718
HP:0025021	Abnormal erythrocyte sedimentation rate	6583	SLC22A4	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	4261	CIITA	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	51744	CD244	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	4795	NFKBIL1	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	3586	IL10	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	2000	ELF4	OMIM:301074
HP:0025021	Abnormal erythrocyte sedimentation rate	4615	MYD88	ORPHA:33226
HP:0025021	Abnormal erythrocyte sedimentation rate	64127	NOD2	OMIM:617321
HP:0025021	Abnormal erythrocyte sedimentation rate	4689	NCF4	OMIM:613960
HP:0025021	Abnormal erythrocyte sedimentation rate	5696	PSMB8	OMIM:256040
HP:0025021	Abnormal erythrocyte sedimentation rate	8838	CCN6	ORPHA:1159
HP:0025021	Abnormal erythrocyte sedimentation rate	4547	MTTP	ORPHA:14
HP:0025022	Decreased erythrocyte sedimentation rate	4547	MTTP	ORPHA:14
HP:0025023	Rectal atresia	341640	FREM2	OMIM:617666
HP:0025023	Rectal atresia	5889	RAD51C	OMIM:613390
HP:0025023	Rectal atresia	57217	TTC7A	OMIM:243150
HP:0025023	Rectal atresia	26123	TCTN3	ORPHA:2753
HP:0025024	Megarectum	55593	OTUD5	OMIM:301056
HP:0025024	Megarectum	3643	INSR	ORPHA:508
HP:0025025	Rectovestibular fistula	23556	PIGN	ORPHA:280633
HP:0025027	Osteoma cutis	2778	GNAS	OMIM:166350
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79443
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79444
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79445
HP:0025028	Abnormality of enteric nervous system morphology	79600	TCTN1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	79848	CSPP1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	51684	SUFU	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	54806	AHI1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	54806	AHI1	ORPHA:220493
HP:0025028	Abnormality of enteric nervous system morphology	153241	CEP120	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	153241	CEP120	ORPHA:220493
HP:0025028	Abnormality of enteric nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	91147	TMEM67	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	200894	ARL13B	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	9731	CEP104	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	219844	HYLS1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	23247	KATNIP	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	219854	TMEM218	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	54903	MKS1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	54903	MKS1	ORPHA:220493
HP:0025028	Abnormality of enteric nervous system morphology	95681	CEP41	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	95681	CEP41	ORPHA:220493
HP:0025028	Abnormality of enteric nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	56623	INPP5E	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	56623	INPP5E	ORPHA:220493
HP:0025028	Abnormality of enteric nervous system morphology	79867	TCTN2	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	80776	B9D2	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	10464	PIBF1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	80210	ARMC9	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	25776	CBY1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	27077	B9D1	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	403	ARL3	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	65062	TMEM237	ORPHA:475
HP:0025028	Abnormality of enteric nervous system morphology	65062	TMEM237	ORPHA:220497
HP:0025028	Abnormality of enteric nervous system morphology	65062	TMEM237	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	25970	SH2B1	ORPHA:261222
HP:0025028	Abnormality of enteric nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0025028	Abnormality of enteric nervous system morphology	6535	SLC6A8	ORPHA:52503
HP:0025028	Abnormality of enteric nervous system morphology	10262	SF3B4	OMIM:154400
HP:0025028	Abnormality of enteric nervous system morphology	8260	NAA10	OMIM:309800
HP:0025028	Abnormality of enteric nervous system morphology	54880	BCOR	OMIM:309800
HP:0025028	Abnormality of enteric nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0025028	Abnormality of enteric nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0025028	Abnormality of enteric nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0025028	Abnormality of enteric nervous system morphology	8929	PHOX2B	ORPHA:99803
HP:0025028	Abnormality of enteric nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0025028	Abnormality of enteric nervous system morphology	26128	KIFBP	OMIM:609460
HP:0025028	Abnormality of enteric nervous system morphology	26128	KIFBP	ORPHA:66629
HP:0025028	Abnormality of enteric nervous system morphology	6023	RMRP	OMIM:250250
HP:0025028	Abnormality of enteric nervous system morphology	6023	RMRP	ORPHA:175
HP:0025028	Abnormality of enteric nervous system morphology	23556	PIGN	ORPHA:2059
HP:0025028	Abnormality of enteric nervous system morphology	8195	MKKS	OMIM:236700
HP:0025028	Abnormality of enteric nervous system morphology	8195	MKKS	ORPHA:2473
HP:0025028	Abnormality of enteric nervous system morphology	84720	PIGO	OMIM:614749
HP:0025028	Abnormality of enteric nervous system morphology	84720	PIGO	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	57167	SALL4	OMIM:607323
HP:0025028	Abnormality of enteric nervous system morphology	57167	SALL4	ORPHA:959
HP:0025028	Abnormality of enteric nervous system morphology	6925	TCF4	ORPHA:2896
HP:0025028	Abnormality of enteric nervous system morphology	64324	NSD1	ORPHA:821
HP:0025028	Abnormality of enteric nervous system morphology	29072	SETD2	ORPHA:821
HP:0025028	Abnormality of enteric nervous system morphology	10297	APC2	ORPHA:821
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3	ORPHA:661
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3	OMIM:613265
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3	ORPHA:897
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3	OMIM:613712
HP:0025028	Abnormality of enteric nervous system morphology	2668	GDNF	ORPHA:661
HP:0025028	Abnormality of enteric nervous system morphology	2668	GDNF	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	2668	GDNF	OMIM:613711
HP:0025028	Abnormality of enteric nervous system morphology	627	BDNF	ORPHA:661
HP:0025028	Abnormality of enteric nervous system morphology	283446	MYO1H	ORPHA:661
HP:0025028	Abnormality of enteric nervous system morphology	215	ABCD1	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	6608	SMO	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	1889	ECE1	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	1889	ECE1	OMIM:613870
HP:0025028	Abnormality of enteric nervous system morphology	6720	SREBF1	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	223117	SEMA3D	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	538	ATP7A	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	OMIM:277580
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	ORPHA:897
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	OMIM:600155
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	1910	EDNRB	OMIM:600501
HP:0025028	Abnormality of enteric nervous system morphology	10512	SEMA3C	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	2064	ERBB2	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	2065	ERBB3	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	2065	ERBB3	OMIM:243180
HP:0025028	Abnormality of enteric nervous system morphology	4902	NRTN	ORPHA:388
HP:0025028	Abnormality of enteric nervous system morphology	51360	MBTPS2	OMIM:308205
HP:0025028	Abnormality of enteric nervous system morphology	51360	MBTPS2	ORPHA:2273
HP:0025028	Abnormality of enteric nervous system morphology	51360	MBTPS2	ORPHA:85284
HP:0025028	Abnormality of enteric nervous system morphology	83479	DDX59	ORPHA:2919
HP:0025028	Abnormality of enteric nervous system morphology	83479	DDX59	OMIM:174300
HP:0025028	Abnormality of enteric nervous system morphology	2623	GATA1	OMIM:190685
HP:0025028	Abnormality of enteric nervous system morphology	6663	SOX10	OMIM:613266
HP:0025028	Abnormality of enteric nervous system morphology	6663	SOX10	OMIM:609136
HP:0025028	Abnormality of enteric nervous system morphology	6663	SOX10	ORPHA:897
HP:0025028	Abnormality of enteric nervous system morphology	6663	SOX10	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	6663	SOX10	ORPHA:163746
HP:0025028	Abnormality of enteric nervous system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0025028	Abnormality of enteric nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0025028	Abnormality of enteric nervous system morphology	3845	KRAS	ORPHA:3339
HP:0025028	Abnormality of enteric nervous system morphology	72	ACTG2	ORPHA:2604
HP:0025028	Abnormality of enteric nervous system morphology	72	ACTG2	OMIM:155310
HP:0025028	Abnormality of enteric nervous system morphology	1717	DHCR7	ORPHA:818
HP:0025028	Abnormality of enteric nervous system morphology	1717	DHCR7	OMIM:270400
HP:0025028	Abnormality of enteric nervous system morphology	429	ASCL1	ORPHA:99803
HP:0025028	Abnormality of enteric nervous system morphology	4286	MITF	ORPHA:897
HP:0025028	Abnormality of enteric nervous system morphology	4286	MITF	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0025028	Abnormality of enteric nervous system morphology	6591	SNAI2	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	3815	KIT	ORPHA:2884
HP:0025028	Abnormality of enteric nervous system morphology	3815	KIT	OMIM:172800
HP:0025028	Abnormality of enteric nervous system morphology	55650	PIGV	OMIM:239300
HP:0025028	Abnormality of enteric nervous system morphology	55650	PIGV	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	7846	TUBA1A	ORPHA:171680
HP:0025028	Abnormality of enteric nervous system morphology	170302	ARX	ORPHA:452
HP:0025028	Abnormality of enteric nervous system morphology	7299	TYR	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	4254	KITLG	ORPHA:895
HP:0025028	Abnormality of enteric nervous system morphology	5077	PAX3	ORPHA:894
HP:0025028	Abnormality of enteric nervous system morphology	5077	PAX3	OMIM:148820
HP:0025028	Abnormality of enteric nervous system morphology	84992	PIGY	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	93210	PGAP3	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	284098	PIGW	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	27315	PGAP2	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	27315	PGAP2	OMIM:614207
HP:0025028	Abnormality of enteric nervous system morphology	9487	PIGL	ORPHA:247262
HP:0025028	Abnormality of enteric nervous system morphology	84100	ARL6	OMIM:209900
HP:0025028	Abnormality of enteric nervous system morphology	79140	CCDC28B	OMIM:209900
HP:0025028	Abnormality of enteric nervous system morphology	582	BBS1	OMIM:209900
HP:0025028	Abnormality of enteric nervous system morphology	672	BRCA1	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	7516	XRCC2	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	29089	UBE2T	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	675	BRCA2	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	55120	FANCL	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2177	FANCD2	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2175	FANCA	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2187	FANCB	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2176	FANCC	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2178	FANCE	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2188	FANCF	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2189	FANCG	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	5888	RAD51	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	5889	RAD51C	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	55159	RFWD3	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	83990	BRIP1	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	57697	FANCM	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	79728	PALB2	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	84464	SLX4	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	2072	ERCC4	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	55215	FANCI	ORPHA:84
HP:0025028	Abnormality of enteric nervous system morphology	546	ATRX	ORPHA:847
HP:0025028	Abnormality of enteric nervous system morphology	1312	COMT	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	2812	GP1BB	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	6239	RREB1	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	6899	TBX1	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	7290	HIRA	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	9632	SEC24C	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	7353	UFD1	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	421	ARVCF	ORPHA:567
HP:0025028	Abnormality of enteric nervous system morphology	79583	TMEM231	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	80184	CEP290	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	51259	TMEM216	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	57545	CC2D2A	ORPHA:2318
HP:0025028	Abnormality of enteric nervous system morphology	2294	FOXF1	ORPHA:210122
HP:0025028	Abnormality of enteric nervous system morphology	3897	L1CAM	OMIM:304100
HP:0025028	Abnormality of enteric nervous system morphology	3897	L1CAM	ORPHA:1497
HP:0025028	Abnormality of enteric nervous system morphology	26040	SETBP1	ORPHA:798
HP:0025028	Abnormality of enteric nervous system morphology	5979	RET	OMIM:142623
HP:0025028	Abnormality of enteric nervous system morphology	9839	ZEB2	OMIM:235730
HP:0025028	Abnormality of enteric nervous system morphology	7276	TTR	ORPHA:85451
HP:0025031	Abnormality of the digestive system	8036	SHOC2	OMIM:607721
HP:0025031	Abnormality of the digestive system	268	AMH	ORPHA:2856
HP:0025031	Abnormality of the digestive system	268	AMH	OMIM:261550
HP:0025031	Abnormality of the digestive system	269	AMHR2	ORPHA:2856
HP:0025031	Abnormality of the digestive system	269	AMHR2	OMIM:261550
HP:0025031	Abnormality of the digestive system	64412	GZF1	OMIM:617662
HP:0025031	Abnormality of the digestive system	64175	P3H1	OMIM:610915
HP:0025031	Abnormality of the digestive system	57589	RIC1	OMIM:618761
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	ORPHA:2834
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	OMIM:278250
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	OMIM:219200
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	ORPHA:357074
HP:0025031	Abnormality of the digestive system	64359	NXN	ORPHA:1507
HP:0025031	Abnormality of the digestive system	4920	ROR2	ORPHA:1507
HP:0025031	Abnormality of the digestive system	4920	ROR2	OMIM:268310
HP:0025031	Abnormality of the digestive system	3670	ISL1	ORPHA:93930
HP:0025031	Abnormality of the digestive system	23347	SMCHD1	OMIM:603457
HP:0025031	Abnormality of the digestive system	23347	SMCHD1	ORPHA:2250
HP:0025031	Abnormality of the digestive system	11107	PRDM5	OMIM:614170
HP:0025031	Abnormality of the digestive system	1656	DDX6	OMIM:618653
HP:0025031	Abnormality of the digestive system	1501	CTNND2	ORPHA:281
HP:0025031	Abnormality of the digestive system	9037	SEMA5A	ORPHA:281
HP:0025031	Abnormality of the digestive system	5337	PLD1	OMIM:212093
HP:0025031	Abnormality of the digestive system	339983	NAT8L	OMIM:614063
HP:0025031	Abnormality of the digestive system	5048	PAFAH1B1	ORPHA:217385
HP:0025031	Abnormality of the digestive system	7531	YWHAE	ORPHA:217385
HP:0025031	Abnormality of the digestive system	9091	PIGQ	OMIM:618548
HP:0025031	Abnormality of the digestive system	9158	FIBP	OMIM:617107
HP:0025031	Abnormality of the digestive system	9158	FIBP	ORPHA:500095
HP:0025031	Abnormality of the digestive system	9993	DGCR2	OMIM:192430
HP:0025031	Abnormality of the digestive system	8220	ESS2	OMIM:192430
HP:0025031	Abnormality of the digestive system	8214	DGCR6	OMIM:192430
HP:0025031	Abnormality of the digestive system	54487	DGCR8	OMIM:192430
HP:0025031	Abnormality of the digestive system	4621	MYH3	OMIM:178110
HP:0025031	Abnormality of the digestive system	4621	MYH3	OMIM:193700
HP:0025031	Abnormality of the digestive system	4621	MYH3	ORPHA:2990
HP:0025031	Abnormality of the digestive system	23483	TGDS	OMIM:616145
HP:0025031	Abnormality of the digestive system	1107	CHD3	OMIM:618205
HP:0025031	Abnormality of the digestive system	8295	TRRAP	OMIM:618454
HP:0025031	Abnormality of the digestive system	1801	DPH1	ORPHA:459061
HP:0025031	Abnormality of the digestive system	4088	SMAD3	ORPHA:284984
HP:0025031	Abnormality of the digestive system	4088	SMAD3	OMIM:613795
HP:0025031	Abnormality of the digestive system	4088	SMAD3	ORPHA:91387
HP:0025031	Abnormality of the digestive system	10765	KDM5B	OMIM:618109
HP:0025031	Abnormality of the digestive system	6418	SET	OMIM:618106
HP:0025031	Abnormality of the digestive system	2972	BRF1	ORPHA:444072
HP:0025031	Abnormality of the digestive system	5515	PPP2CA	OMIM:618354
HP:0025031	Abnormality of the digestive system	84068	SLC10A7	OMIM:618363
HP:0025031	Abnormality of the digestive system	165	AEBP1	OMIM:618000
HP:0025031	Abnormality of the digestive system	165	AEBP1	ORPHA:536532
HP:0025031	Abnormality of the digestive system	11342	RNF13	OMIM:618379
HP:0025031	Abnormality of the digestive system	11342	RNF13	ORPHA:544503
HP:0025031	Abnormality of the digestive system	9791	PTDSS1	OMIM:151050
HP:0025031	Abnormality of the digestive system	9791	PTDSS1	ORPHA:2658
HP:0025031	Abnormality of the digestive system	1278	COL1A2	OMIM:225320
HP:0025031	Abnormality of the digestive system	1278	COL1A2	ORPHA:230851
HP:0025031	Abnormality of the digestive system	1278	COL1A2	ORPHA:1899
HP:0025031	Abnormality of the digestive system	6935	ZEB1	OMIM:609141
HP:0025031	Abnormality of the digestive system	285590	SH3PXD2B	ORPHA:137834
HP:0025031	Abnormality of the digestive system	10283	CWC27	ORPHA:166035
HP:0025031	Abnormality of the digestive system	8720	MBTPS1	OMIM:618392
HP:0025031	Abnormality of the digestive system	23405	DICER1	OMIM:618272
HP:0025031	Abnormality of the digestive system	10220	GDF11	OMIM:619122
HP:0025031	Abnormality of the digestive system	8450	CUL4B	ORPHA:85293
HP:0025031	Abnormality of the digestive system	149461	CLDN19	ORPHA:2196
HP:0025031	Abnormality of the digestive system	7474	WNT5A	OMIM:180700
HP:0025031	Abnormality of the digestive system	7474	WNT5A	ORPHA:3107
HP:0025031	Abnormality of the digestive system	1855	DVL1	OMIM:180700
HP:0025031	Abnormality of the digestive system	1855	DVL1	ORPHA:3107
HP:0025031	Abnormality of the digestive system	5518	PPP2R1A	ORPHA:457284
HP:0025031	Abnormality of the digestive system	29969	MDFIC	OMIM:620014
HP:0025031	Abnormality of the digestive system	7042	TGFB2	OMIM:614816
HP:0025031	Abnormality of the digestive system	7042	TGFB2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	168667	BMPER	OMIM:608022
HP:0025031	Abnormality of the digestive system	4702	NDUFA8	OMIM:619272
HP:0025031	Abnormality of the digestive system	2904	GRIN2B	OMIM:613970
HP:0025031	Abnormality of the digestive system	123263	MTFMT	OMIM:614947
HP:0025031	Abnormality of the digestive system	4774	NFIA	OMIM:613735
HP:0025031	Abnormality of the digestive system	5352	PLOD2	OMIM:609220
HP:0025031	Abnormality of the digestive system	10093	ARPC4	OMIM:620141
HP:0025031	Abnormality of the digestive system	8443	GNPAT	OMIM:222765
HP:0025031	Abnormality of the digestive system	25782	RAB3GAP2	OMIM:212720
HP:0025031	Abnormality of the digestive system	1146	CHRNG	OMIM:265000
HP:0025031	Abnormality of the digestive system	1146	CHRNG	ORPHA:2990
HP:0025031	Abnormality of the digestive system	26053	AUTS2	ORPHA:352490
HP:0025031	Abnormality of the digestive system	26053	AUTS2	OMIM:615834
HP:0025031	Abnormality of the digestive system	1836	SLC26A2	OMIM:600972
HP:0025031	Abnormality of the digestive system	197257	LDHD	OMIM:245450
HP:0025031	Abnormality of the digestive system	1857	DVL3	ORPHA:3107
HP:0025031	Abnormality of the digestive system	54499	TMCO1	OMIM:213980
HP:0025031	Abnormality of the digestive system	10907	TXNL4A	OMIM:608572
HP:0025031	Abnormality of the digestive system	4094	MAF	ORPHA:1272
HP:0025031	Abnormality of the digestive system	5324	PLAG1	ORPHA:397590
HP:0025031	Abnormality of the digestive system	2146	EZH2	OMIM:277590
HP:0025031	Abnormality of the digestive system	2146	EZH2	ORPHA:3447
HP:0025031	Abnormality of the digestive system	8726	EED	ORPHA:3447
HP:0025031	Abnormality of the digestive system	23512	SUZ12	ORPHA:3447
HP:0025031	Abnormality of the digestive system	2245	FGD1	ORPHA:915
HP:0025031	Abnormality of the digestive system	2245	FGD1	OMIM:305400
HP:0025031	Abnormality of the digestive system	23291	FBXW11	OMIM:618914
HP:0025031	Abnormality of the digestive system	4953	ODC1	ORPHA:544488
HP:0025031	Abnormality of the digestive system	998	CDC42	OMIM:616737
HP:0025031	Abnormality of the digestive system	998	CDC42	ORPHA:487796
HP:0025031	Abnormality of the digestive system	55033	FKBP14	OMIM:614557
HP:0025031	Abnormality of the digestive system	2657	GDF1	OMIM:208530
HP:0025031	Abnormality of the digestive system	10265	IRX5	OMIM:611174
HP:0025031	Abnormality of the digestive system	134701	RIPPLY2	ORPHA:2311
HP:0025031	Abnormality of the digestive system	10683	DLL3	ORPHA:2311
HP:0025031	Abnormality of the digestive system	3955	LFNG	ORPHA:2311
HP:0025031	Abnormality of the digestive system	145873	MESP2	ORPHA:2311
HP:0025031	Abnormality of the digestive system	8884	SLC5A6	OMIM:619903
HP:0025031	Abnormality of the digestive system	2626	GATA4	OMIM:615542
HP:0025031	Abnormality of the digestive system	6785	ELOVL4	OMIM:614457
HP:0025031	Abnormality of the digestive system	8905	AP1S2	ORPHA:1568
HP:0025031	Abnormality of the digestive system	55617	TASP1	OMIM:618950
HP:0025031	Abnormality of the digestive system	9469	CHST3	OMIM:245600
HP:0025031	Abnormality of the digestive system	26229	B3GAT3	OMIM:245600
HP:0025031	Abnormality of the digestive system	203068	TUBB	ORPHA:2505
HP:0025031	Abnormality of the digestive system	10982	MAPRE2	ORPHA:2505
HP:0025031	Abnormality of the digestive system	221927	BRAT1	OMIM:614498
HP:0025031	Abnormality of the digestive system	7046	TGFBR1	ORPHA:91387
HP:0025031	Abnormality of the digestive system	4015	LOX	ORPHA:91387
HP:0025031	Abnormality of the digestive system	4087	SMAD2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	59	ACTA2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	5592	PRKG1	ORPHA:91387
HP:0025031	Abnormality of the digestive system	2301	FOXE3	ORPHA:91387
HP:0025031	Abnormality of the digestive system	4144	MAT2A	ORPHA:91387
HP:0025031	Abnormality of the digestive system	23493	HEY2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	8076	MFAP5	ORPHA:91387
HP:0025031	Abnormality of the digestive system	3588	IL10RB	OMIM:612567
HP:0025031	Abnormality of the digestive system	84172	POLR1B	ORPHA:861
HP:0025031	Abnormality of the digestive system	9533	POLR1C	ORPHA:861
HP:0025031	Abnormality of the digestive system	51082	POLR1D	ORPHA:861
HP:0025031	Abnormality of the digestive system	6949	TCOF1	ORPHA:861
HP:0025031	Abnormality of the digestive system	6006	RHCE	ORPHA:71275
HP:0025031	Abnormality of the digestive system	286410	ATP11C	OMIM:301015
HP:0025031	Abnormality of the digestive system	51124	IER3IP1	OMIM:614231
HP:0025031	Abnormality of the digestive system	2215	FCGR3B	ORPHA:464370
HP:0025031	Abnormality of the digestive system	28234	SLCO1B3	ORPHA:3111
HP:0025031	Abnormality of the digestive system	10599	SLCO1B1	ORPHA:3111
HP:0025031	Abnormality of the digestive system	157570	ESCO2	OMIM:268300
HP:0025031	Abnormality of the digestive system	212	ALAS2	OMIM:300752
HP:0025031	Abnormality of the digestive system	3098	HK1	OMIM:235700
HP:0025031	Abnormality of the digestive system	8242	KDM5C	OMIM:300534
HP:0025031	Abnormality of the digestive system	2821	GPI	OMIM:613470
HP:0025031	Abnormality of the digestive system	5213	PFKM	OMIM:232800
HP:0025031	Abnormality of the digestive system	51626	DYNC2LI1	ORPHA:474
HP:0025031	Abnormality of the digestive system	57728	WDR19	ORPHA:474
HP:0025031	Abnormality of the digestive system	79809	TTC21B	ORPHA:474
HP:0025031	Abnormality of the digestive system	55532	SLC30A10	ORPHA:309854
HP:0025031	Abnormality of the digestive system	3028	HSD17B10	ORPHA:391457
HP:0025031	Abnormality of the digestive system	4552	MTRR	ORPHA:2169
HP:0025031	Abnormality of the digestive system	590	BCHE	ORPHA:132
HP:0025031	Abnormality of the digestive system	7018	TF	OMIM:209300
HP:0025031	Abnormality of the digestive system	9213	XPR1	ORPHA:1980
HP:0025031	Abnormality of the digestive system	5159	PDGFRB	ORPHA:1980
HP:0025031	Abnormality of the digestive system	57462	MYORG	ORPHA:1980
HP:0025031	Abnormality of the digestive system	6575	SLC20A2	ORPHA:1980
HP:0025031	Abnormality of the digestive system	58494	JAM2	ORPHA:1980
HP:0025031	Abnormality of the digestive system	3431	SP110	OMIM:235550
HP:0025031	Abnormality of the digestive system	64116	SLC39A8	ORPHA:468699
HP:0025031	Abnormality of the digestive system	9451	EIF2AK3	ORPHA:1667
HP:0025031	Abnormality of the digestive system	191	AHCY	ORPHA:88618
HP:0025031	Abnormality of the digestive system	7289	TULP3	OMIM:619902
HP:0025031	Abnormality of the digestive system	7036	TFR2	OMIM:604250
HP:0025031	Abnormality of the digestive system	3516	RBPJ	ORPHA:974
HP:0025031	Abnormality of the digestive system	4851	NOTCH1	ORPHA:974
HP:0025031	Abnormality of the digestive system	57514	ARHGAP31	ORPHA:974
HP:0025031	Abnormality of the digestive system	57572	DOCK6	ORPHA:974
HP:0025031	Abnormality of the digestive system	285203	EOGT	ORPHA:974
HP:0025031	Abnormality of the digestive system	112752	IFT43	OMIM:614099
HP:0025031	Abnormality of the digestive system	7389	UROD	OMIM:176100
HP:0025031	Abnormality of the digestive system	56623	INPP5E	OMIM:213300
HP:0025031	Abnormality of the digestive system	54567	DLL4	OMIM:616589
HP:0025031	Abnormality of the digestive system	84100	ARL6	OMIM:209900
HP:0025031	Abnormality of the digestive system	84100	ARL6	ORPHA:110
HP:0025031	Abnormality of the digestive system	79140	CCDC28B	OMIM:209900
HP:0025031	Abnormality of the digestive system	582	BBS1	OMIM:209900
HP:0025031	Abnormality of the digestive system	582	BBS1	ORPHA:110
HP:0025031	Abnormality of the digestive system	8772	FADD	ORPHA:306550
HP:0025031	Abnormality of the digestive system	92482	BBIP1	ORPHA:110
HP:0025031	Abnormality of the digestive system	80184	CEP290	ORPHA:110
HP:0025031	Abnormality of the digestive system	49855	SCAPER	ORPHA:110
HP:0025031	Abnormality of the digestive system	4867	NPHP1	ORPHA:110
HP:0025031	Abnormality of the digestive system	51057	WDPCP	ORPHA:110
HP:0025031	Abnormality of the digestive system	27241	BBS9	ORPHA:110
HP:0025031	Abnormality of the digestive system	22954	TRIM32	ORPHA:110
HP:0025031	Abnormality of the digestive system	79738	BBS10	ORPHA:110
HP:0025031	Abnormality of the digestive system	123016	TTC8	ORPHA:110
HP:0025031	Abnormality of the digestive system	583	BBS2	ORPHA:110
HP:0025031	Abnormality of the digestive system	585	BBS4	ORPHA:110
HP:0025031	Abnormality of the digestive system	54585	LZTFL1	ORPHA:110
HP:0025031	Abnormality of the digestive system	55212	BBS7	ORPHA:110
HP:0025031	Abnormality of the digestive system	166379	BBS12	ORPHA:110
HP:0025031	Abnormality of the digestive system	10806	SDCCAG8	ORPHA:110
HP:0025031	Abnormality of the digestive system	157657	CFAP418	ORPHA:110
HP:0025031	Abnormality of the digestive system	129880	BBS5	ORPHA:110
HP:0025031	Abnormality of the digestive system	80173	IFT74	ORPHA:110
HP:0025031	Abnormality of the digestive system	55768	NGLY1	OMIM:615273
HP:0025031	Abnormality of the digestive system	57545	CC2D2A	OMIM:612285
HP:0025031	Abnormality of the digestive system	57545	CC2D2A	OMIM:619111
HP:0025031	Abnormality of the digestive system	57545	CC2D2A	OMIM:612284
HP:0025031	Abnormality of the digestive system	435	ASL	OMIM:207900
HP:0025031	Abnormality of the digestive system	79770	TXNDC15	OMIM:619879
HP:0025031	Abnormality of the digestive system	1356	CP	ORPHA:48818
HP:0025031	Abnormality of the digestive system	8481	OFD1	OMIM:311200
HP:0025031	Abnormality of the digestive system	9371	KIF3B	OMIM:618955
HP:0025031	Abnormality of the digestive system	178	AGL	OMIM:232400
HP:0025031	Abnormality of the digestive system	57817	HAMP	OMIM:613313
HP:0025031	Abnormality of the digestive system	5557	PRIM1	OMIM:620005
HP:0025031	Abnormality of the digestive system	5836	PYGL	ORPHA:369
HP:0025031	Abnormality of the digestive system	26160	IFT172	OMIM:615630
HP:0025031	Abnormality of the digestive system	5443	POMC	ORPHA:71526
HP:0025031	Abnormality of the digestive system	5443	POMC	OMIM:609734
HP:0025031	Abnormality of the digestive system	9420	CYP7B1	ORPHA:79302
HP:0025031	Abnormality of the digestive system	9095	TBX19	OMIM:201400
HP:0025031	Abnormality of the digestive system	27031	NPHP3	OMIM:208540
HP:0025031	Abnormality of the digestive system	27031	NPHP3	OMIM:267010
HP:0025031	Abnormality of the digestive system	644	BLVRA	OMIM:614156
HP:0025031	Abnormality of the digestive system	51473	DCDC2	ORPHA:84081
HP:0025031	Abnormality of the digestive system	51473	DCDC2	OMIM:616217
HP:0025031	Abnormality of the digestive system	51473	DCDC2	OMIM:617394
HP:0025031	Abnormality of the digestive system	91147	TMEM67	ORPHA:84081
HP:0025031	Abnormality of the digestive system	182	JAG1	OMIM:118450
HP:0025031	Abnormality of the digestive system	23729	SHPK	ORPHA:440713
HP:0025031	Abnormality of the digestive system	9076	CLDN1	ORPHA:59303
HP:0025031	Abnormality of the digestive system	9076	CLDN1	OMIM:607626
HP:0025031	Abnormality of the digestive system	199221	DZIP1L	ORPHA:731
HP:0025031	Abnormality of the digestive system	9652	SKIC3	OMIM:222470
HP:0025031	Abnormality of the digestive system	7019	TFAM	OMIM:617156
HP:0025031	Abnormality of the digestive system	130589	GALM	ORPHA:570422
HP:0025031	Abnormality of the digestive system	383	ARG1	OMIM:207800
HP:0025031	Abnormality of the digestive system	54532	USP53	OMIM:619658
HP:0025031	Abnormality of the digestive system	284086	NEK8	OMIM:615415
HP:0025031	Abnormality of the digestive system	4853	NOTCH2	OMIM:610205
HP:0025031	Abnormality of the digestive system	26146	TRAF3IP1	OMIM:616629
HP:0025031	Abnormality of the digestive system	124454	EARS2	OMIM:614924
HP:0025031	Abnormality of the digestive system	203286	ANKS6	OMIM:615382
HP:0025031	Abnormality of the digestive system	9742	IFT140	OMIM:266920
HP:0025031	Abnormality of the digestive system	113220	KIF12	OMIM:619662
HP:0025031	Abnormality of the digestive system	51134	CEP83	OMIM:615862
HP:0025031	Abnormality of the digestive system	79053	ALG8	OMIM:608104
HP:0025031	Abnormality of the digestive system	1174	AP1S1	OMIM:609313
HP:0025031	Abnormality of the digestive system	26276	VPS33B	OMIM:620010
HP:0025031	Abnormality of the digestive system	4069	LYZ	OMIM:105200
HP:0025031	Abnormality of the digestive system	2243	FGA	OMIM:105200
HP:0025031	Abnormality of the digestive system	335	APOA1	OMIM:105200
HP:0025031	Abnormality of the digestive system	567	B2M	OMIM:105200
HP:0025031	Abnormality of the digestive system	10159	ATP6AP2	OMIM:301045
HP:0025031	Abnormality of the digestive system	3376	IARS1	OMIM:617093
HP:0025031	Abnormality of the digestive system	3376	IARS1	ORPHA:541423
HP:0025031	Abnormality of the digestive system	286053	NSMCE2	OMIM:617253
HP:0025031	Abnormality of the digestive system	286053	NSMCE2	ORPHA:436182
HP:0025031	Abnormality of the digestive system	11020	IFT27	OMIM:615996
HP:0025031	Abnormality of the digestive system	132	ADK	OMIM:614300
HP:0025031	Abnormality of the digestive system	60684	TRAPPC11	OMIM:615356
HP:0025031	Abnormality of the digestive system	60684	TRAPPC11	ORPHA:369840
HP:0025031	Abnormality of the digestive system	1355	COX15	OMIM:615119
HP:0025031	Abnormality of the digestive system	63924	CIDEC	OMIM:615238
HP:0025031	Abnormality of the digestive system	63924	CIDEC	ORPHA:435651
HP:0025031	Abnormality of the digestive system	51099	ABHD5	OMIM:275630
HP:0025031	Abnormality of the digestive system	51099	ABHD5	ORPHA:98907
HP:0025031	Abnormality of the digestive system	6718	AKR1D1	ORPHA:79303
HP:0025031	Abnormality of the digestive system	80222	TARS2	OMIM:615918
HP:0025031	Abnormality of the digestive system	26580	BSCL2	ORPHA:363400
HP:0025031	Abnormality of the digestive system	26580	BSCL2	OMIM:269700
HP:0025031	Abnormality of the digestive system	26580	BSCL2	ORPHA:528
HP:0025031	Abnormality of the digestive system	6341	SCO1	OMIM:619048
HP:0025031	Abnormality of the digestive system	4141	MARS1	OMIM:615486
HP:0025031	Abnormality of the digestive system	8882	ZPR1	OMIM:619321
HP:0025031	Abnormality of the digestive system	348	APOE	ORPHA:412
HP:0025031	Abnormality of the digestive system	10165	SLC25A13	OMIM:603471
HP:0025031	Abnormality of the digestive system	10165	SLC25A13	ORPHA:247598
HP:0025031	Abnormality of the digestive system	10165	SLC25A13	ORPHA:247585
HP:0025031	Abnormality of the digestive system	3949	LDLR	ORPHA:391665
HP:0025031	Abnormality of the digestive system	255738	PCSK9	ORPHA:391665
HP:0025031	Abnormality of the digestive system	26119	LDLRAP1	ORPHA:391665
HP:0025031	Abnormality of the digestive system	338	APOB	ORPHA:391665
HP:0025031	Abnormality of the digestive system	64240	ABCG5	ORPHA:391665
HP:0025031	Abnormality of the digestive system	60561	RINT1	OMIM:618641
HP:0025031	Abnormality of the digestive system	4358	MPV17	OMIM:618400
HP:0025031	Abnormality of the digestive system	4358	MPV17	OMIM:256810
HP:0025031	Abnormality of the digestive system	34	ACADM	OMIM:201450
HP:0025031	Abnormality of the digestive system	34	ACADM	ORPHA:42
HP:0025031	Abnormality of the digestive system	5105	PCK1	OMIM:261680
HP:0025031	Abnormality of the digestive system	50619	DEF6	OMIM:619573
HP:0025031	Abnormality of the digestive system	5468	PPARG	ORPHA:79083
HP:0025031	Abnormality of the digestive system	5468	PPARG	OMIM:604367
HP:0025031	Abnormality of the digestive system	5468	PPARG	ORPHA:528
HP:0025031	Abnormality of the digestive system	208	AKT2	ORPHA:79085
HP:0025031	Abnormality of the digestive system	5346	PLIN1	OMIM:613877
HP:0025031	Abnormality of the digestive system	5346	PLIN1	ORPHA:280356
HP:0025031	Abnormality of the digestive system	84823	LMNB2	ORPHA:79087
HP:0025031	Abnormality of the digestive system	84823	LMNB2	OMIM:608709
HP:0025031	Abnormality of the digestive system	1581	CYP7A1	ORPHA:209902
HP:0025031	Abnormality of the digestive system	1716	DGUOK	OMIM:251880
HP:0025031	Abnormality of the digestive system	10555	AGPAT2	OMIM:608594
HP:0025031	Abnormality of the digestive system	10555	AGPAT2	ORPHA:528
HP:0025031	Abnormality of the digestive system	5424	POLD1	OMIM:615381
HP:0025031	Abnormality of the digestive system	84984	CEP19	OMIM:615703
HP:0025031	Abnormality of the digestive system	28976	ACAD9	ORPHA:99901
HP:0025031	Abnormality of the digestive system	5373	PMM2	OMIM:212065
HP:0025031	Abnormality of the digestive system	1588	CYP19A1	ORPHA:91
HP:0025031	Abnormality of the digestive system	54914	FOCAD	OMIM:619991
HP:0025031	Abnormality of the digestive system	11222	MRPL3	OMIM:614582
HP:0025031	Abnormality of the digestive system	3991	LIPE	ORPHA:435660
HP:0025031	Abnormality of the digestive system	3991	LIPE	OMIM:615980
HP:0025031	Abnormality of the digestive system	5566	PRKACA	ORPHA:189439
HP:0025031	Abnormality of the digestive system	8622	PDE8B	ORPHA:189439
HP:0025031	Abnormality of the digestive system	51520	LARS1	OMIM:615438
HP:0025031	Abnormality of the digestive system	788	SLC25A20	OMIM:212138
HP:0025031	Abnormality of the digestive system	540	ATP7B	ORPHA:905
HP:0025031	Abnormality of the digestive system	540	ATP7B	OMIM:277900
HP:0025031	Abnormality of the digestive system	2203	FBP1	ORPHA:348
HP:0025031	Abnormality of the digestive system	100147744	RNU7-1	OMIM:619487
HP:0025031	Abnormality of the digestive system	5106	PCK2	OMIM:261650
HP:0025031	Abnormality of the digestive system	79798	ARMC5	ORPHA:189427
HP:0025031	Abnormality of the digestive system	64135	IFIH1	OMIM:615846
HP:0025031	Abnormality of the digestive system	51128	SAR1B	ORPHA:71
HP:0025031	Abnormality of the digestive system	11128	POLR3A	ORPHA:3455
HP:0025031	Abnormality of the digestive system	617	BCS1L	OMIM:124000
HP:0025031	Abnormality of the digestive system	617	BCS1L	ORPHA:53693
HP:0025031	Abnormality of the digestive system	3181	HNRNPA2B1	ORPHA:52430
HP:0025031	Abnormality of the digestive system	57104	PNPLA2	OMIM:610717
HP:0025031	Abnormality of the digestive system	57104	PNPLA2	ORPHA:98908
HP:0025031	Abnormality of the digestive system	2819	GPD1	OMIM:614480
HP:0025031	Abnormality of the digestive system	51081	MRPS7	OMIM:617872
HP:0025031	Abnormality of the digestive system	2193	FARSA	OMIM:619013
HP:0025031	Abnormality of the digestive system	8565	YARS1	OMIM:619418
HP:0025031	Abnormality of the digestive system	1374	CPT1A	OMIM:255120
HP:0025031	Abnormality of the digestive system	55005	RMND1	OMIM:614922
HP:0025031	Abnormality of the digestive system	3295	HSD17B4	OMIM:261515
HP:0025031	Abnormality of the digestive system	147007	TMEM199	OMIM:616829
HP:0025031	Abnormality of the digestive system	875	CBS	OMIM:236200
HP:0025031	Abnormality of the digestive system	1376	CPT2	ORPHA:228305
HP:0025031	Abnormality of the digestive system	1376	CPT2	ORPHA:228308
HP:0025031	Abnormality of the digestive system	2353	FOS	ORPHA:528
HP:0025031	Abnormality of the digestive system	8813	DPM1	ORPHA:79322
HP:0025031	Abnormality of the digestive system	9054	NFS1	OMIM:619386
HP:0025031	Abnormality of the digestive system	35	ACADS	ORPHA:26792
HP:0025031	Abnormality of the digestive system	2235	FECH	OMIM:177000
HP:0025031	Abnormality of the digestive system	6309	SC5D	ORPHA:46059
HP:0025031	Abnormality of the digestive system	2632	GBE1	OMIM:232500
HP:0025031	Abnormality of the digestive system	9414	TJP2	OMIM:615878
HP:0025031	Abnormality of the digestive system	4536	MT-ND2	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4537	MT-ND3	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4577	MT-TV	ORPHA:255210
HP:0025031	Abnormality of the digestive system	10166	SLC25A15	ORPHA:415
HP:0025031	Abnormality of the digestive system	54658	UGT1A1	OMIM:143500
HP:0025031	Abnormality of the digestive system	2592	GALT	ORPHA:79239
HP:0025031	Abnormality of the digestive system	1738	DLD	ORPHA:2394
HP:0025031	Abnormality of the digestive system	55764	IFT122	OMIM:218330
HP:0025031	Abnormality of the digestive system	56244	BTNL2	ORPHA:797
HP:0025031	Abnormality of the digestive system	51241	COX16	OMIM:619355
HP:0025031	Abnormality of the digestive system	570	BAAT	OMIM:619232
HP:0025031	Abnormality of the digestive system	8364	H4C3	OMIM:619758
HP:0025031	Abnormality of the digestive system	23600	AMACR	OMIM:214950
HP:0025031	Abnormality of the digestive system	378884	NHLRC1	ORPHA:501
HP:0025031	Abnormality of the digestive system	378884	NHLRC1	OMIM:254780
HP:0025031	Abnormality of the digestive system	7957	EPM2A	ORPHA:501
HP:0025031	Abnormality of the digestive system	7957	EPM2A	OMIM:254780
HP:0025031	Abnormality of the digestive system	3594	IL12RB1	ORPHA:186
HP:0025031	Abnormality of the digestive system	23534	TNPO3	ORPHA:186
HP:0025031	Abnormality of the digestive system	6689	SPIB	ORPHA:186
HP:0025031	Abnormality of the digestive system	5450	POU2AF1	ORPHA:186
HP:0025031	Abnormality of the digestive system	9966	TNFSF15	ORPHA:186
HP:0025031	Abnormality of the digestive system	79258	MMEL1	ORPHA:186
HP:0025031	Abnormality of the digestive system	2658	GDF2	ORPHA:774
HP:0025031	Abnormality of the digestive system	94	ACVRL1	ORPHA:774
HP:0025031	Abnormality of the digestive system	2022	ENG	ORPHA:774
HP:0025031	Abnormality of the digestive system	4351	MPI	OMIM:602579
HP:0025031	Abnormality of the digestive system	4724	NDUFS4	OMIM:252010
HP:0025031	Abnormality of the digestive system	29960	MRM2	OMIM:618567
HP:0025031	Abnormality of the digestive system	84317	CCDC115	OMIM:616828
HP:0025031	Abnormality of the digestive system	2184	FAH	OMIM:276700
HP:0025031	Abnormality of the digestive system	28962	OSTM1	OMIM:259720
HP:0025031	Abnormality of the digestive system	5825	ABCD3	OMIM:616278
HP:0025031	Abnormality of the digestive system	57410	SCYL1	OMIM:616719
HP:0025031	Abnormality of the digestive system	5277	PIGA	OMIM:301072
HP:0025031	Abnormality of the digestive system	83932	SPRTN	OMIM:616200
HP:0025031	Abnormality of the digestive system	22796	COG2	ORPHA:435934
HP:0025031	Abnormality of the digestive system	23395	LARS2	OMIM:617021
HP:0025031	Abnormality of the digestive system	51601	LIPT1	OMIM:616299
HP:0025031	Abnormality of the digestive system	55278	QRSL1	OMIM:618835
HP:0025031	Abnormality of the digestive system	51649	MRPS23	OMIM:618952
HP:0025031	Abnormality of the digestive system	283459	GATC	OMIM:618839
HP:0025031	Abnormality of the digestive system	2954	GSTZ1	OMIM:617596
HP:0025031	Abnormality of the digestive system	65080	MRPL44	OMIM:615395
HP:0025031	Abnormality of the digestive system	131118	DNAJC19	OMIM:610198
HP:0025031	Abnormality of the digestive system	131118	DNAJC19	ORPHA:66634
HP:0025031	Abnormality of the digestive system	3071	NCKAP1L	OMIM:618982
HP:0025031	Abnormality of the digestive system	79722	ANKRD55	ORPHA:85408
HP:0025031	Abnormality of the digestive system	5771	PTPN2	ORPHA:85408
HP:0025031	Abnormality of the digestive system	2122	MECOM	OMIM:616738
HP:0025031	Abnormality of the digestive system	26154	ABCA12	OMIM:601277
HP:0025031	Abnormality of the digestive system	970	CD70	OMIM:618261
HP:0025031	Abnormality of the digestive system	8517	IKBKG	OMIM:301081
HP:0025031	Abnormality of the digestive system	5788	PTPRC	OMIM:619924
HP:0025031	Abnormality of the digestive system	84868	HAVCR2	ORPHA:86884
HP:0025031	Abnormality of the digestive system	1513	CTSK	ORPHA:763
HP:0025031	Abnormality of the digestive system	23384	SPECC1L	ORPHA:1519
HP:0025031	Abnormality of the digestive system	3764	KCNJ8	ORPHA:1517
HP:0025031	Abnormality of the digestive system	10060	ABCC9	ORPHA:1517
HP:0025031	Abnormality of the digestive system	10060	ABCC9	OMIM:239850
HP:0025031	Abnormality of the digestive system	54453	RIN2	OMIM:613075
HP:0025031	Abnormality of the digestive system	54453	RIN2	ORPHA:217335
HP:0025031	Abnormality of the digestive system	50814	NSDHL	OMIM:308050
HP:0025031	Abnormality of the digestive system	2697	GJA1	ORPHA:2710
HP:0025031	Abnormality of the digestive system	1954	MEGF8	OMIM:614976
HP:0025031	Abnormality of the digestive system	1954	MEGF8	ORPHA:65759
HP:0025031	Abnormality of the digestive system	649	BMP1	OMIM:614856
HP:0025031	Abnormality of the digestive system	1947	EFNB1	OMIM:304110
HP:0025031	Abnormality of the digestive system	57479	PRR12	OMIM:619539
HP:0025031	Abnormality of the digestive system	136647	MPLKIP	ORPHA:33364
HP:0025031	Abnormality of the digestive system	6897	TARS1	ORPHA:33364
HP:0025031	Abnormality of the digestive system	2071	ERCC3	ORPHA:33364
HP:0025031	Abnormality of the digestive system	2961	GTF2E2	ORPHA:33364
HP:0025031	Abnormality of the digestive system	23312	DMXL2	ORPHA:1934
HP:0025031	Abnormality of the digestive system	11284	PNKP	ORPHA:1934
HP:0025031	Abnormality of the digestive system	346171	ZFP57	ORPHA:99886
HP:0025031	Abnormality of the digestive system	79068	FTO	OMIM:612938
HP:0025031	Abnormality of the digestive system	10082	GPC6	OMIM:258315
HP:0025031	Abnormality of the digestive system	55603	TENT5A	OMIM:617952
HP:0025031	Abnormality of the digestive system	23389	MED13L	ORPHA:369891
HP:0025031	Abnormality of the digestive system	633	BGN	OMIM:300989
HP:0025031	Abnormality of the digestive system	51715	RAB23	ORPHA:65759
HP:0025031	Abnormality of the digestive system	51715	RAB23	OMIM:201000
HP:0025031	Abnormality of the digestive system	84265	POLR3GL	OMIM:619234
HP:0025031	Abnormality of the digestive system	23169	SLC35D1	OMIM:269250
HP:0025031	Abnormality of the digestive system	1594	CYP27B1	ORPHA:289157
HP:0025031	Abnormality of the digestive system	1594	CYP27B1	OMIM:264700
HP:0025031	Abnormality of the digestive system	120227	CYP2R1	ORPHA:289157
HP:0025031	Abnormality of the digestive system	579	NKX3-2	OMIM:613330
HP:0025031	Abnormality of the digestive system	51098	IFT52	OMIM:617102
HP:0025031	Abnormality of the digestive system	7421	VDR	OMIM:277440
HP:0025031	Abnormality of the digestive system	54808	DYM	ORPHA:239
HP:0025031	Abnormality of the digestive system	28981	IFT81	OMIM:617895
HP:0025031	Abnormality of the digestive system	1147	CHUK	OMIM:613630
HP:0025031	Abnormality of the digestive system	4313	MMP2	ORPHA:371428
HP:0025031	Abnormality of the digestive system	4323	MMP14	ORPHA:371428
HP:0025031	Abnormality of the digestive system	1301	COL11A1	OMIM:228520
HP:0025031	Abnormality of the digestive system	1301	COL11A1	ORPHA:2021
HP:0025031	Abnormality of the digestive system	1302	COL11A2	ORPHA:2021
HP:0025031	Abnormality of the digestive system	57216	VANGL2	ORPHA:563609
HP:0025031	Abnormality of the digestive system	2571	GAD1	OMIM:619124
HP:0025031	Abnormality of the digestive system	3090	HIC1	ORPHA:531
HP:0025031	Abnormality of the digestive system	727857	BHLHA9	ORPHA:3329
HP:0025031	Abnormality of the digestive system	63916	ELMO2	OMIM:606893
HP:0025031	Abnormality of the digestive system	55553	SOX6	OMIM:618971
HP:0025031	Abnormality of the digestive system	56945	MRPS22	OMIM:611719
HP:0025031	Abnormality of the digestive system	54345	SOX18	ORPHA:69735
HP:0025031	Abnormality of the digestive system	10216	PRG4	ORPHA:2848
HP:0025031	Abnormality of the digestive system	202018	TAPT1	OMIM:616897
HP:0025031	Abnormality of the digestive system	151188	ARL6IP6	ORPHA:1556
HP:0025031	Abnormality of the digestive system	55901	THSD1	OMIM:620244
HP:0025031	Abnormality of the digestive system	1108	CHD4	OMIM:617159
HP:0025031	Abnormality of the digestive system	26005	C2CD3	OMIM:615948
HP:0025031	Abnormality of the digestive system	133686	NADK2	ORPHA:431361
HP:0025031	Abnormality of the digestive system	64788	LMF1	OMIM:246650
HP:0025031	Abnormality of the digestive system	9894	TELO2	ORPHA:488642
HP:0025031	Abnormality of the digestive system	63929	XPNPEP3	OMIM:613159
HP:0025031	Abnormality of the digestive system	7293	TNFRSF4	OMIM:615593
HP:0025031	Abnormality of the digestive system	1441	CSF3R	OMIM:162830
HP:0025031	Abnormality of the digestive system	80739	MPIG6B	OMIM:617441
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:133100
HP:0025031	Abnormality of the digestive system	10019	SH2B3	ORPHA:3318
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:187950
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:254450
HP:0025031	Abnormality of the digestive system	6916	TBXAS1	ORPHA:1802
HP:0025031	Abnormality of the digestive system	7372	UMPS	ORPHA:30
HP:0025031	Abnormality of the digestive system	23218	NBEAL2	OMIM:139090
HP:0025031	Abnormality of the digestive system	23218	NBEAL2	ORPHA:721
HP:0025031	Abnormality of the digestive system	51095	TRNT1	OMIM:616084
HP:0025031	Abnormality of the digestive system	5264	PHYH	ORPHA:773
HP:0025031	Abnormality of the digestive system	5191	PEX7	ORPHA:773
HP:0025031	Abnormality of the digestive system	4938	OAS1	OMIM:618042
HP:0025031	Abnormality of the digestive system	7066	THPO	ORPHA:71493
HP:0025031	Abnormality of the digestive system	7066	THPO	OMIM:187950
HP:0025031	Abnormality of the digestive system	80216	ALPK1	OMIM:614979
HP:0025031	Abnormality of the digestive system	219285	SAMD9L	ORPHA:2585
HP:0025031	Abnormality of the digestive system	669	BPGM	OMIM:222800
HP:0025031	Abnormality of the digestive system	2328	FMO3	OMIM:602079
HP:0025031	Abnormality of the digestive system	27040	LAT	OMIM:617514
HP:0025031	Abnormality of the digestive system	55329	MNS1	OMIM:618948
HP:0025031	Abnormality of the digestive system	3921	RPSA	OMIM:271400
HP:0025031	Abnormality of the digestive system	55770	EXOC2	OMIM:619306
HP:0025031	Abnormality of the digestive system	5745	PTH1R	OMIM:215045
HP:0025031	Abnormality of the digestive system	95	ACY1	ORPHA:137754
HP:0025031	Abnormality of the digestive system	4522	MTHFD1	OMIM:617780
HP:0025031	Abnormality of the digestive system	5917	RARS1	ORPHA:438114
HP:0025031	Abnormality of the digestive system	55904	KMT2E	OMIM:618512
HP:0025031	Abnormality of the digestive system	3284	HSD3B2	ORPHA:90791
HP:0025031	Abnormality of the digestive system	8942	KYNU	OMIM:236800
HP:0025031	Abnormality of the digestive system	64087	MCCC2	OMIM:210210
HP:0025031	Abnormality of the digestive system	65998	ZFTA	ORPHA:251636
HP:0025031	Abnormality of the digestive system	5970	RELA	ORPHA:251636
HP:0025031	Abnormality of the digestive system	1591	CYP24A1	OMIM:143880
HP:0025031	Abnormality of the digestive system	84300	UQCC2	OMIM:615824
HP:0025031	Abnormality of the digestive system	56922	MCCC1	OMIM:210200
HP:0025031	Abnormality of the digestive system	7809	BSND	ORPHA:89938
HP:0025031	Abnormality of the digestive system	1187	CLCNKA	ORPHA:89938
HP:0025031	Abnormality of the digestive system	51594	NBAS	OMIM:616483
HP:0025031	Abnormality of the digestive system	1629	DBT	OMIM:248600
HP:0025031	Abnormality of the digestive system	593	BCKDHA	OMIM:248600
HP:0025031	Abnormality of the digestive system	594	BCKDHB	OMIM:248600
HP:0025031	Abnormality of the digestive system	440138	ALG11	OMIM:613661
HP:0025031	Abnormality of the digestive system	4488	MSX2	ORPHA:60015
HP:0025031	Abnormality of the digestive system	60529	ALX4	ORPHA:60015
HP:0025031	Abnormality of the digestive system	2161	F12	OMIM:610618
HP:0025031	Abnormality of the digestive system	26275	HIBCH	ORPHA:88639
HP:0025031	Abnormality of the digestive system	79731	NARS2	ORPHA:79134
HP:0025031	Abnormality of the digestive system	8869	ST3GAL5	OMIM:609056
HP:0025031	Abnormality of the digestive system	84340	GFM2	ORPHA:565624
HP:0025031	Abnormality of the digestive system	1956	EGFR	OMIM:616069
HP:0025031	Abnormality of the digestive system	6326	SCN2A	OMIM:618924
HP:0025031	Abnormality of the digestive system	29920	PYCR2	ORPHA:481152
HP:0025031	Abnormality of the digestive system	3712	IVD	OMIM:243500
HP:0025031	Abnormality of the digestive system	1583	CYP11A1	ORPHA:289548
HP:0025031	Abnormality of the digestive system	1583	CYP11A1	ORPHA:168558
HP:0025031	Abnormality of the digestive system	5903	RANBP2	ORPHA:88619
HP:0025031	Abnormality of the digestive system	87178	PNPT1	ORPHA:101111
HP:0025031	Abnormality of the digestive system	87178	PNPT1	OMIM:608703
HP:0025031	Abnormality of the digestive system	51501	HIKESHI	OMIM:616881
HP:0025031	Abnormality of the digestive system	5019	OXCT1	OMIM:245050
HP:0025031	Abnormality of the digestive system	1537	CYC1	OMIM:615453
HP:0025031	Abnormality of the digestive system	8139	GAN	OMIM:256850
HP:0025031	Abnormality of the digestive system	50617	ATP6V0A4	OMIM:602722
HP:0025031	Abnormality of the digestive system	3735	KARS1	OMIM:619147
HP:0025031	Abnormality of the digestive system	1373	CPS1	OMIM:237300
HP:0025031	Abnormality of the digestive system	27034	ACAD8	ORPHA:79159
HP:0025031	Abnormality of the digestive system	197322	ACSF3	OMIM:614265
HP:0025031	Abnormality of the digestive system	5651	TMPRSS15	OMIM:226200
HP:0025031	Abnormality of the digestive system	790	CAD	OMIM:616457
HP:0025031	Abnormality of the digestive system	55107	ANO1	OMIM:620045
HP:0025031	Abnormality of the digestive system	1621	DBH	ORPHA:230
HP:0025031	Abnormality of the digestive system	4306	NR3C2	OMIM:177735
HP:0025031	Abnormality of the digestive system	55739	NAXD	OMIM:618321
HP:0025031	Abnormality of the digestive system	10195	ALG3	OMIM:601110
HP:0025031	Abnormality of the digestive system	3078	CFHR1	OMIM:235400
HP:0025031	Abnormality of the digestive system	10878	CFHR3	OMIM:235400
HP:0025031	Abnormality of the digestive system	55388	MCM10	OMIM:619313
HP:0025031	Abnormality of the digestive system	3932	LCK	OMIM:615758
HP:0025031	Abnormality of the digestive system	9948	WDR1	OMIM:150550
HP:0025031	Abnormality of the digestive system	9837	GINS1	OMIM:617827
HP:0025031	Abnormality of the digestive system	916	CD3E	ORPHA:169160
HP:0025031	Abnormality of the digestive system	919	CD247	ORPHA:169160
HP:0025031	Abnormality of the digestive system	4128	MAOA	OMIM:300615
HP:0025031	Abnormality of the digestive system	22845	DOLK	OMIM:610768
HP:0025031	Abnormality of the digestive system	79783	SUGCT	OMIM:231690
HP:0025031	Abnormality of the digestive system	7482	WNT2B	OMIM:618168
HP:0025031	Abnormality of the digestive system	551	AVP	ORPHA:30925
HP:0025031	Abnormality of the digestive system	3458	IFNG	OMIM:618963
HP:0025031	Abnormality of the digestive system	64682	ANAPC1	ORPHA:221008
HP:0025031	Abnormality of the digestive system	2673	GFPT1	OMIM:608931
HP:0025031	Abnormality of the digestive system	1410	CRYAB	OMIM:608810
HP:0025031	Abnormality of the digestive system	1410	CRYAB	ORPHA:399058
HP:0025031	Abnormality of the digestive system	4287	ATXN3	OMIM:109150
HP:0025031	Abnormality of the digestive system	4287	ATXN3	ORPHA:276238
HP:0025031	Abnormality of the digestive system	4287	ATXN3	ORPHA:276244
HP:0025031	Abnormality of the digestive system	4287	ATXN3	ORPHA:276241
HP:0025031	Abnormality of the digestive system	55703	POLR3B	OMIM:614381
HP:0025031	Abnormality of the digestive system	55703	POLR3B	OMIM:607694
HP:0025031	Abnormality of the digestive system	23446	SLC44A1	OMIM:618868
HP:0025031	Abnormality of the digestive system	4593	MUSK	OMIM:616325
HP:0025031	Abnormality of the digestive system	57679	ALS2	ORPHA:247604
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:205100
HP:0025031	Abnormality of the digestive system	57679	ALS2	ORPHA:300605
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:607225
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:606353
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:247604
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:280384
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:209951
HP:0025031	Abnormality of the digestive system	9499	MYOT	ORPHA:266
HP:0025031	Abnormality of the digestive system	6687	SPG7	ORPHA:99013
HP:0025031	Abnormality of the digestive system	6687	SPG7	OMIM:607259
HP:0025031	Abnormality of the digestive system	6687	SPG7	ORPHA:35689
HP:0025031	Abnormality of the digestive system	8291	DYSF	ORPHA:268
HP:0025031	Abnormality of the digestive system	6536	SLC6A9	OMIM:617301
HP:0025031	Abnormality of the digestive system	10528	NOP56	OMIM:614153
HP:0025031	Abnormality of the digestive system	10528	NOP56	ORPHA:276198
HP:0025031	Abnormality of the digestive system	101060691	NUTM2B-AS1	OMIM:618637
HP:0025031	Abnormality of the digestive system	1841	DTYMK	OMIM:619847
HP:0025031	Abnormality of the digestive system	8575	PRKRA	ORPHA:210571
HP:0025031	Abnormality of the digestive system	8575	PRKRA	OMIM:612067
HP:0025031	Abnormality of the digestive system	5663	PSEN1	OMIM:607822
HP:0025031	Abnormality of the digestive system	7343	UBTF	OMIM:617672
HP:0025031	Abnormality of the digestive system	7343	UBTF	ORPHA:500180
HP:0025031	Abnormality of the digestive system	10352	WARS2	OMIM:619738
HP:0025031	Abnormality of the digestive system	10352	WARS2	ORPHA:572798
HP:0025031	Abnormality of the digestive system	3064	HTT	OMIM:617435
HP:0025031	Abnormality of the digestive system	10939	AFG3L2	ORPHA:313772
HP:0025031	Abnormality of the digestive system	10939	AFG3L2	OMIM:614487
HP:0025031	Abnormality of the digestive system	83480	PUS3	ORPHA:488627
HP:0025031	Abnormality of the digestive system	10049	DNAJB6	ORPHA:34516
HP:0025031	Abnormality of the digestive system	10049	DNAJB6	OMIM:603511
HP:0025031	Abnormality of the digestive system	4620	MYH2	OMIM:605637
HP:0025031	Abnormality of the digestive system	10935	PRDX3	OMIM:619862
HP:0025031	Abnormality of the digestive system	246243	RNASEH1	OMIM:616479
HP:0025031	Abnormality of the digestive system	246243	RNASEH1	ORPHA:329336
HP:0025031	Abnormality of the digestive system	80208	SPG11	ORPHA:2822
HP:0025031	Abnormality of the digestive system	80208	SPG11	ORPHA:300605
HP:0025031	Abnormality of the digestive system	80208	SPG11	OMIM:604360
HP:0025031	Abnormality of the digestive system	2911	GRM1	OMIM:617691
HP:0025031	Abnormality of the digestive system	54902	TTC19	OMIM:615157
HP:0025031	Abnormality of the digestive system	2643	GCH1	OMIM:233910
HP:0025031	Abnormality of the digestive system	1180	CLCN1	OMIM:255700
HP:0025031	Abnormality of the digestive system	58	ACTA1	OMIM:161800
HP:0025031	Abnormality of the digestive system	58	ACTA1	ORPHA:171433
HP:0025031	Abnormality of the digestive system	58	ACTA1	ORPHA:171430
HP:0025031	Abnormality of the digestive system	58	ACTA1	ORPHA:2020
HP:0025031	Abnormality of the digestive system	5860	QDPR	ORPHA:226
HP:0025031	Abnormality of the digestive system	5860	QDPR	OMIM:261630
HP:0025031	Abnormality of the digestive system	7750	ZMYM2	OMIM:619522
HP:0025031	Abnormality of the digestive system	56947	MFF	ORPHA:485421
HP:0025031	Abnormality of the digestive system	56947	MFF	OMIM:617086
HP:0025031	Abnormality of the digestive system	10342	TFG	ORPHA:90117
HP:0025031	Abnormality of the digestive system	4626	MYH8	OMIM:158300
HP:0025031	Abnormality of the digestive system	57724	EPG5	OMIM:242840
HP:0025031	Abnormality of the digestive system	1436	CSF1R	OMIM:221820
HP:0025031	Abnormality of the digestive system	5354	PLP1	OMIM:312080
HP:0025031	Abnormality of the digestive system	4123	MAN2C1	OMIM:619775
HP:0025031	Abnormality of the digestive system	339855	KY	OMIM:617114
HP:0025031	Abnormality of the digestive system	339855	KY	ORPHA:496689
HP:0025031	Abnormality of the digestive system	79977	GRHL2	OMIM:616029
HP:0025031	Abnormality of the digestive system	23499	MACF1	OMIM:618325
HP:0025031	Abnormality of the digestive system	23499	MACF1	ORPHA:572013
HP:0025031	Abnormality of the digestive system	2055	CLN8	ORPHA:1947
HP:0025031	Abnormality of the digestive system	5837	PYGM	ORPHA:368
HP:0025031	Abnormality of the digestive system	2512	FTL	ORPHA:157846
HP:0025031	Abnormality of the digestive system	2512	FTL	OMIM:606159
HP:0025031	Abnormality of the digestive system	10533	ATG7	OMIM:619422
HP:0025031	Abnormality of the digestive system	51117	COQ4	OMIM:616276
HP:0025031	Abnormality of the digestive system	120	ADD3	OMIM:617008
HP:0025031	Abnormality of the digestive system	5081	PAX7	OMIM:618578
HP:0025031	Abnormality of the digestive system	353116	RILPL1	OMIM:619790
HP:0025031	Abnormality of the digestive system	2775	GNAO1	OMIM:617493
HP:0025031	Abnormality of the digestive system	56896	DPYSL5	OMIM:619435
HP:0025031	Abnormality of the digestive system	54892	NCAPG2	OMIM:618460
HP:0025031	Abnormality of the digestive system	79912	PYROXD1	OMIM:617258
HP:0025031	Abnormality of the digestive system	4703	NEB	OMIM:256030
HP:0025031	Abnormality of the digestive system	4703	NEB	ORPHA:171433
HP:0025031	Abnormality of the digestive system	4703	NEB	ORPHA:171430
HP:0025031	Abnormality of the digestive system	7084	TK2	ORPHA:254886
HP:0025031	Abnormality of the digestive system	7084	TK2	ORPHA:254875
HP:0025031	Abnormality of the digestive system	7084	TK2	OMIM:617069
HP:0025031	Abnormality of the digestive system	81790	RNF170	OMIM:619686
HP:0025031	Abnormality of the digestive system	84909	AOPEP	OMIM:619565
HP:0025031	Abnormality of the digestive system	25814	ATXN10	OMIM:603516
HP:0025031	Abnormality of the digestive system	5649	RELN	ORPHA:89844
HP:0025031	Abnormality of the digestive system	10300	KATNB1	ORPHA:89844
HP:0025031	Abnormality of the digestive system	54820	NDE1	ORPHA:89844
HP:0025031	Abnormality of the digestive system	387119	CEP85L	ORPHA:572013
HP:0025031	Abnormality of the digestive system	10059	DNM1L	ORPHA:98673
HP:0025031	Abnormality of the digestive system	4976	OPA1	ORPHA:98673
HP:0025031	Abnormality of the digestive system	4976	OPA1	OMIM:210000
HP:0025031	Abnormality of the digestive system	5980	REV3L	ORPHA:570
HP:0025031	Abnormality of the digestive system	23129	PLXND1	ORPHA:570
HP:0025031	Abnormality of the digestive system	65055	REEP1	ORPHA:101011
HP:0025031	Abnormality of the digestive system	65055	REEP1	OMIM:610250
HP:0025031	Abnormality of the digestive system	351	APP	ORPHA:324708
HP:0025031	Abnormality of the digestive system	56915	EXOSC5	OMIM:619576
HP:0025031	Abnormality of the digestive system	51132	RLIM	OMIM:300978
HP:0025031	Abnormality of the digestive system	10588	MTHFS	OMIM:618367
HP:0025031	Abnormality of the digestive system	4704	NDUFA9	OMIM:618247
HP:0025031	Abnormality of the digestive system	7170	TPM3	OMIM:609284
HP:0025031	Abnormality of the digestive system	7170	TPM3	ORPHA:171433
HP:0025031	Abnormality of the digestive system	7170	TPM3	ORPHA:2020
HP:0025031	Abnormality of the digestive system	7170	TPM3	OMIM:255310
HP:0025031	Abnormality of the digestive system	54834	GDAP2	OMIM:618369
HP:0025031	Abnormality of the digestive system	1201	CLN3	ORPHA:228346
HP:0025031	Abnormality of the digestive system	2131	EXT1	ORPHA:321
HP:0025031	Abnormality of the digestive system	6329	SCN4A	ORPHA:684
HP:0025031	Abnormality of the digestive system	6329	SCN4A	ORPHA:99735
HP:0025031	Abnormality of the digestive system	6329	SCN4A	ORPHA:99736
HP:0025031	Abnormality of the digestive system	51102	MECR	OMIM:617282
HP:0025031	Abnormality of the digestive system	51102	MECR	ORPHA:508093
HP:0025031	Abnormality of the digestive system	51324	SPG21	ORPHA:101001
HP:0025031	Abnormality of the digestive system	51324	SPG21	OMIM:248900
HP:0025031	Abnormality of the digestive system	5631	PRPS1	OMIM:301835
HP:0025031	Abnormality of the digestive system	3977	LIFR	OMIM:601559
HP:0025031	Abnormality of the digestive system	2705	GJB1	OMIM:302800
HP:0025031	Abnormality of the digestive system	4761	NEUROD2	OMIM:618374
HP:0025031	Abnormality of the digestive system	51305	KCNK9	ORPHA:166108
HP:0025031	Abnormality of the digestive system	51305	KCNK9	OMIM:612292
HP:0025031	Abnormality of the digestive system	1200	TPP1	OMIM:609270
HP:0025031	Abnormality of the digestive system	220296	HEPACAM	OMIM:613925
HP:0025031	Abnormality of the digestive system	26040	SETBP1	ORPHA:798
HP:0025031	Abnormality of the digestive system	55975	KLHL7	OMIM:617055
HP:0025031	Abnormality of the digestive system	100996717	NOTCH2NLC	OMIM:619473
HP:0025031	Abnormality of the digestive system	29123	ANKRD11	ORPHA:261250
HP:0025031	Abnormality of the digestive system	1893	ECM1	ORPHA:530
HP:0025031	Abnormality of the digestive system	10273	STUB1	ORPHA:412057
HP:0025031	Abnormality of the digestive system	10273	STUB1	OMIM:618093
HP:0025031	Abnormality of the digestive system	84081	NSRP1	OMIM:620001
HP:0025031	Abnormality of the digestive system	1678	TIMM8A	ORPHA:52368
HP:0025031	Abnormality of the digestive system	1678	TIMM8A	OMIM:304700
HP:0025031	Abnormality of the digestive system	4914	NTRK1	ORPHA:642
HP:0025031	Abnormality of the digestive system	64432	MRPS25	OMIM:619025
HP:0025031	Abnormality of the digestive system	84842	HPDL	OMIM:619027
HP:0025031	Abnormality of the digestive system	5605	MAP2K2	ORPHA:638
HP:0025031	Abnormality of the digestive system	80308	FLAD1	OMIM:255100
HP:0025031	Abnormality of the digestive system	5111	PCNA	OMIM:615919
HP:0025031	Abnormality of the digestive system	79581	SLC52A2	OMIM:614707
HP:0025031	Abnormality of the digestive system	10324	KLHL41	ORPHA:171433
HP:0025031	Abnormality of the digestive system	10324	KLHL41	ORPHA:171430
HP:0025031	Abnormality of the digestive system	131377	KLHL40	ORPHA:171430
HP:0025031	Abnormality of the digestive system	131377	KLHL40	OMIM:615348
HP:0025031	Abnormality of the digestive system	56203	LMOD3	ORPHA:171430
HP:0025031	Abnormality of the digestive system	271	AMPD2	OMIM:615809
HP:0025031	Abnormality of the digestive system	2483	FRG1	OMIM:158900
HP:0025031	Abnormality of the digestive system	64207	IRF2BPL	OMIM:618088
HP:0025031	Abnormality of the digestive system	146862	UNC45B	OMIM:619178
HP:0025031	Abnormality of the digestive system	29967	LRP12	OMIM:164310
HP:0025031	Abnormality of the digestive system	26278	SACS	ORPHA:98
HP:0025031	Abnormality of the digestive system	57190	SELENON	ORPHA:2020
HP:0025031	Abnormality of the digestive system	3679	ITGA7	ORPHA:2020
HP:0025031	Abnormality of the digestive system	7169	TPM2	ORPHA:2020
HP:0025031	Abnormality of the digestive system	9200	HACD1	ORPHA:2020
HP:0025031	Abnormality of the digestive system	51776	MAP3K20	ORPHA:2020
HP:0025031	Abnormality of the digestive system	79152	FA2H	ORPHA:329308
HP:0025031	Abnormality of the digestive system	23400	ATP13A2	ORPHA:306674
HP:0025031	Abnormality of the digestive system	23400	ATP13A2	OMIM:606693
HP:0025031	Abnormality of the digestive system	1641	DCX	ORPHA:2148
HP:0025031	Abnormality of the digestive system	60	ACTB	OMIM:607371
HP:0025031	Abnormality of the digestive system	60	ACTB	ORPHA:79107
HP:0025031	Abnormality of the digestive system	1600	DAB1	OMIM:615945
HP:0025031	Abnormality of the digestive system	113278	SLC52A3	OMIM:211530
HP:0025031	Abnormality of the digestive system	113278	SLC52A3	OMIM:211500
HP:0025031	Abnormality of the digestive system	2395	FXN	ORPHA:95
HP:0025031	Abnormality of the digestive system	23533	PIK3R5	ORPHA:64753
HP:0025031	Abnormality of the digestive system	23064	SETX	ORPHA:64753
HP:0025031	Abnormality of the digestive system	23064	SETX	OMIM:606002
HP:0025031	Abnormality of the digestive system	3211	HOXB1	OMIM:614744
HP:0025031	Abnormality of the digestive system	146057	TTBK2	ORPHA:98767
HP:0025031	Abnormality of the digestive system	3748	KCNC3	ORPHA:98768
HP:0025031	Abnormality of the digestive system	80704	SLC19A3	OMIM:607483
HP:0025031	Abnormality of the digestive system	80025	PANK2	OMIM:234200
HP:0025031	Abnormality of the digestive system	80025	PANK2	OMIM:607236
HP:0025031	Abnormality of the digestive system	80025	PANK2	ORPHA:216873
HP:0025031	Abnormality of the digestive system	80025	PANK2	ORPHA:216866
HP:0025031	Abnormality of the digestive system	724066	ATXN8	ORPHA:98760
HP:0025031	Abnormality of the digestive system	724066	ATXN8	OMIM:608768
HP:0025031	Abnormality of the digestive system	492	ATP2B3	OMIM:302500
HP:0025031	Abnormality of the digestive system	3251	HPRT1	OMIM:300322
HP:0025031	Abnormality of the digestive system	3208	HPCA	OMIM:224500
HP:0025031	Abnormality of the digestive system	10280	SIGMAR1	ORPHA:300605
HP:0025031	Abnormality of the digestive system	255928	SYT14	ORPHA:284271
HP:0025031	Abnormality of the digestive system	255928	SYT14	OMIM:614229
HP:0025031	Abnormality of the digestive system	9440	MED17	OMIM:613668
HP:0025031	Abnormality of the digestive system	2255	FGF10	ORPHA:2363
HP:0025031	Abnormality of the digestive system	8106	PABPN1	OMIM:164300
HP:0025031	Abnormality of the digestive system	6310	ATXN1	ORPHA:98755
HP:0025031	Abnormality of the digestive system	6310	ATXN1	OMIM:164400
HP:0025031	Abnormality of the digestive system	91574	MTRFR	OMIM:613559
HP:0025031	Abnormality of the digestive system	85021	REPS1	OMIM:617916
HP:0025031	Abnormality of the digestive system	3752	KCND3	OMIM:607346
HP:0025031	Abnormality of the digestive system	6314	ATXN7	ORPHA:94147
HP:0025031	Abnormality of the digestive system	6314	ATXN7	OMIM:164500
HP:0025031	Abnormality of the digestive system	2776	GNAQ	ORPHA:3205
HP:0025031	Abnormality of the digestive system	25793	FBXO7	ORPHA:171695
HP:0025031	Abnormality of the digestive system	7407	VARS1	OMIM:617802
HP:0025031	Abnormality of the digestive system	10382	TUBB4A	OMIM:128101
HP:0025031	Abnormality of the digestive system	10382	TUBB4A	ORPHA:98805
HP:0025031	Abnormality of the digestive system	1861	TOR1A	OMIM:128100
HP:0025031	Abnormality of the digestive system	54704	PDP1	OMIM:608782
HP:0025031	Abnormality of the digestive system	55906	ZC4H2	OMIM:301041
HP:0025031	Abnormality of the digestive system	2982	GUCY1A1	OMIM:615750
HP:0025031	Abnormality of the digestive system	29926	GMPPA	OMIM:615510
HP:0025031	Abnormality of the digestive system	57704	GBA2	ORPHA:352641
HP:0025031	Abnormality of the digestive system	79587	CARS2	ORPHA:477774
HP:0025031	Abnormality of the digestive system	2782	GNB1	OMIM:616973
HP:0025031	Abnormality of the digestive system	79644	SRD5A3	OMIM:612379
HP:0025031	Abnormality of the digestive system	25953	PNKD	OMIM:118800
HP:0025031	Abnormality of the digestive system	2058	EPRS1	OMIM:617951
HP:0025031	Abnormality of the digestive system	23317	DNAJC13	ORPHA:411602
HP:0025031	Abnormality of the digestive system	1981	EIF4G1	ORPHA:411602
HP:0025031	Abnormality of the digestive system	55737	VPS35	ORPHA:411602
HP:0025031	Abnormality of the digestive system	26058	GIGYF2	ORPHA:411602
HP:0025031	Abnormality of the digestive system	2917	GRM7	OMIM:618922
HP:0025031	Abnormality of the digestive system	128989	TANGO2	ORPHA:480864
HP:0025031	Abnormality of the digestive system	5582	PRKCG	OMIM:605361
HP:0025031	Abnormality of the digestive system	3418	IDH2	ORPHA:163634
HP:0025031	Abnormality of the digestive system	79784	MYH14	ORPHA:397744
HP:0025031	Abnormality of the digestive system	84617	TUBB6	OMIM:617732
HP:0025031	Abnormality of the digestive system	2670	GFAP	ORPHA:363722
HP:0025031	Abnormality of the digestive system	2670	GFAP	ORPHA:363717
HP:0025031	Abnormality of the digestive system	122553	TRAPPC6B	OMIM:617862
HP:0025031	Abnormality of the digestive system	8913	CACNA1G	ORPHA:458803
HP:0025031	Abnormality of the digestive system	8913	CACNA1G	OMIM:616795
HP:0025031	Abnormality of the digestive system	22943	DKK1	ORPHA:268882
HP:0025031	Abnormality of the digestive system	7515	XRCC1	OMIM:617633
HP:0025031	Abnormality of the digestive system	4359	MPZ	OMIM:607736
HP:0025031	Abnormality of the digestive system	4747	NEFL	OMIM:607734
HP:0025031	Abnormality of the digestive system	4594	MMUT	ORPHA:289916
HP:0025031	Abnormality of the digestive system	4594	MMUT	ORPHA:79312
HP:0025031	Abnormality of the digestive system	1776	DNASE1L3	ORPHA:36412
HP:0025031	Abnormality of the digestive system	3655	ITGA6	ORPHA:79403
HP:0025031	Abnormality of the digestive system	3691	ITGB4	ORPHA:79403
HP:0025031	Abnormality of the digestive system	4609	MYC	ORPHA:543
HP:0025031	Abnormality of the digestive system	2130	EWSR1	ORPHA:83469
HP:0025031	Abnormality of the digestive system	7490	WT1	ORPHA:83469
HP:0025031	Abnormality of the digestive system	64072	CDH23	ORPHA:2965
HP:0025031	Abnormality of the digestive system	64072	CDH23	ORPHA:91347
HP:0025031	Abnormality of the digestive system	9049	AIP	ORPHA:2965
HP:0025031	Abnormality of the digestive system	5053	PAH	ORPHA:79254
HP:0025031	Abnormality of the digestive system	10320	IKZF1	ORPHA:36426
HP:0025031	Abnormality of the digestive system	114548	NLRP3	ORPHA:47045
HP:0025031	Abnormality of the digestive system	114548	NLRP3	ORPHA:1451
HP:0025031	Abnormality of the digestive system	3141	HLCS	ORPHA:79242
HP:0025031	Abnormality of the digestive system	285282	RABL3	ORPHA:1333
HP:0025031	Abnormality of the digestive system	23022	PALLD	ORPHA:1333
HP:0025031	Abnormality of the digestive system	5873	RAB27A	ORPHA:79477
HP:0025031	Abnormality of the digestive system	4771	NF2	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6598	SMARCB1	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6598	SMARCB1	ORPHA:99966
HP:0025031	Abnormality of the digestive system	5155	PDGFB	ORPHA:2495
HP:0025031	Abnormality of the digestive system	84231	TRAF7	ORPHA:2495
HP:0025031	Abnormality of the digestive system	51684	SUFU	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6605	SMARCE1	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6049	RNF6	ORPHA:99977
HP:0025031	Abnormality of the digestive system	9940	DLEC1	ORPHA:99977
HP:0025031	Abnormality of the digestive system	1493	CTLA4	ORPHA:900
HP:0025031	Abnormality of the digestive system	26191	PTPN22	ORPHA:900
HP:0025031	Abnormality of the digestive system	3115	HLA-DPB1	ORPHA:900
HP:0025031	Abnormality of the digestive system	5657	PRTN3	ORPHA:900
HP:0025031	Abnormality of the digestive system	3113	HLA-DPA1	ORPHA:900
HP:0025031	Abnormality of the digestive system	2624	GATA2	ORPHA:3226
HP:0025031	Abnormality of the digestive system	25802	LMOD1	ORPHA:2241
HP:0025031	Abnormality of the digestive system	4638	MYLK	ORPHA:2241
HP:0025031	Abnormality of the digestive system	3988	LIPA	ORPHA:75233
HP:0025031	Abnormality of the digestive system	3988	LIPA	ORPHA:75234
HP:0025031	Abnormality of the digestive system	25978	CHMP2B	ORPHA:803
HP:0025031	Abnormality of the digestive system	3178	HNRNPA1	ORPHA:803
HP:0025031	Abnormality of the digestive system	8148	TAF15	ORPHA:803
HP:0025031	Abnormality of the digestive system	5445	PON2	ORPHA:803
HP:0025031	Abnormality of the digestive system	9217	VAPB	ORPHA:803
HP:0025031	Abnormality of the digestive system	8878	SQSTM1	ORPHA:803
HP:0025031	Abnormality of the digestive system	5630	PRPH	ORPHA:803
HP:0025031	Abnormality of the digestive system	29110	TBK1	ORPHA:803
HP:0025031	Abnormality of the digestive system	29110	TBK1	ORPHA:1930
HP:0025031	Abnormality of the digestive system	55830	GLT8D1	ORPHA:803
HP:0025031	Abnormality of the digestive system	755	CFAP410	ORPHA:803
HP:0025031	Abnormality of the digestive system	10891	PPARGC1A	ORPHA:803
HP:0025031	Abnormality of the digestive system	6647	SOD1	ORPHA:803
HP:0025031	Abnormality of the digestive system	10133	OPTN	ORPHA:803
HP:0025031	Abnormality of the digestive system	1639	DCTN1	ORPHA:803
HP:0025031	Abnormality of the digestive system	5444	PON1	ORPHA:803
HP:0025031	Abnormality of the digestive system	5446	PON3	ORPHA:803
HP:0025031	Abnormality of the digestive system	5216	PFN1	ORPHA:803
HP:0025031	Abnormality of the digestive system	9782	MATR3	ORPHA:803
HP:0025031	Abnormality of the digestive system	54209	TREM2	ORPHA:803
HP:0025031	Abnormality of the digestive system	7415	VCP	ORPHA:803
HP:0025031	Abnormality of the digestive system	283	ANG	ORPHA:803
HP:0025031	Abnormality of the digestive system	23435	TARDBP	ORPHA:803
HP:0025031	Abnormality of the digestive system	29978	UBQLN2	ORPHA:803
HP:0025031	Abnormality of the digestive system	2733	GLE1	ORPHA:803
HP:0025031	Abnormality of the digestive system	2521	FUS	ORPHA:803
HP:0025031	Abnormality of the digestive system	4750	NEK1	ORPHA:803
HP:0025031	Abnormality of the digestive system	2043	EPHA4	ORPHA:803
HP:0025031	Abnormality of the digestive system	1610	DAO	ORPHA:803
HP:0025031	Abnormality of the digestive system	2066	ERBB4	ORPHA:803
HP:0025031	Abnormality of the digestive system	311	ANXA11	ORPHA:803
HP:0025031	Abnormality of the digestive system	23025	UNC13A	ORPHA:803
HP:0025031	Abnormality of the digestive system	899	CCNF	ORPHA:803
HP:0025031	Abnormality of the digestive system	400916	CHCHD10	ORPHA:803
HP:0025031	Abnormality of the digestive system	1616	DAXX	ORPHA:100075
HP:0025031	Abnormality of the digestive system	5728	PTEN	ORPHA:65285
HP:0025031	Abnormality of the digestive system	7187	TRAF3	ORPHA:1930
HP:0025031	Abnormality of the digestive system	81622	UNC93B1	ORPHA:1930
HP:0025031	Abnormality of the digestive system	148022	TICAM1	ORPHA:1930
HP:0025031	Abnormality of the digestive system	7098	TLR3	ORPHA:1930
HP:0025031	Abnormality of the digestive system	229	ALDOB	OMIM:229600
HP:0025031	Abnormality of the digestive system	229	ALDOB	ORPHA:469
HP:0025031	Abnormality of the digestive system	56606	SLC2A9	ORPHA:94088
HP:0025031	Abnormality of the digestive system	116085	SLC22A12	ORPHA:94088
HP:0025031	Abnormality of the digestive system	4023	LPL	OMIM:238600
HP:0025031	Abnormality of the digestive system	5314	PKHD1	ORPHA:53035
HP:0025031	Abnormality of the digestive system	92667	MGME1	OMIM:615084
HP:0025031	Abnormality of the digestive system	92667	MGME1	ORPHA:352447
HP:0025031	Abnormality of the digestive system	6507	SLC1A3	OMIM:612656
HP:0025031	Abnormality of the digestive system	3736	KCNA1	ORPHA:37612
HP:0025031	Abnormality of the digestive system	710	SERPING1	ORPHA:100050
HP:0025031	Abnormality of the digestive system	6331	SCN5A	ORPHA:1344
HP:0025031	Abnormality of the digestive system	4878	NPPA	ORPHA:1344
HP:0025031	Abnormality of the digestive system	5257	PHKB	ORPHA:79240
HP:0025031	Abnormality of the digestive system	2492	FSHR	OMIM:608115
HP:0025031	Abnormality of the digestive system	2492	FSHR	ORPHA:64739
HP:0025031	Abnormality of the digestive system	7428	VHL	ORPHA:276621
HP:0025031	Abnormality of the digestive system	7428	VHL	ORPHA:29072
HP:0025031	Abnormality of the digestive system	1788	DNMT3A	ORPHA:276621
HP:0025031	Abnormality of the digestive system	2034	EPAS1	ORPHA:276621
HP:0025031	Abnormality of the digestive system	6392	SDHD	ORPHA:276621
HP:0025031	Abnormality of the digestive system	6392	SDHD	ORPHA:29072
HP:0025031	Abnormality of the digestive system	9056	SLC7A7	OMIM:222700
HP:0025031	Abnormality of the digestive system	776	CACNA1D	ORPHA:369929
HP:0025031	Abnormality of the digestive system	54832	VPS13C	ORPHA:2828
HP:0025031	Abnormality of the digestive system	11315	PARK7	ORPHA:2828
HP:0025031	Abnormality of the digestive system	7345	UCHL1	ORPHA:2828
HP:0025031	Abnormality of the digestive system	27429	HTRA2	ORPHA:2828
HP:0025031	Abnormality of the digestive system	120892	LRRK2	ORPHA:2828
HP:0025031	Abnormality of the digestive system	9829	DNAJC6	ORPHA:2828
HP:0025031	Abnormality of the digestive system	6622	SNCA	ORPHA:2828
HP:0025031	Abnormality of the digestive system	5420	PODXL	ORPHA:2828
HP:0025031	Abnormality of the digestive system	65018	PINK1	ORPHA:2828
HP:0025031	Abnormality of the digestive system	5071	PRKN	ORPHA:2828
HP:0025031	Abnormality of the digestive system	5498	PPOX	ORPHA:79473
HP:0025031	Abnormality of the digestive system	10068	IL18BP	OMIM:618549
HP:0025031	Abnormality of the digestive system	1743	DLST	ORPHA:29072
HP:0025031	Abnormality of the digestive system	4191	MDH2	ORPHA:29072
HP:0025031	Abnormality of the digestive system	23095	KIF1B	ORPHA:29072
HP:0025031	Abnormality of the digestive system	2271	FH	ORPHA:29072
HP:0025031	Abnormality of the digestive system	8402	SLC25A11	ORPHA:29072
HP:0025031	Abnormality of the digestive system	54949	SDHAF2	ORPHA:29072
HP:0025031	Abnormality of the digestive system	55654	TMEM127	ORPHA:29072
HP:0025031	Abnormality of the digestive system	4763	NF1	ORPHA:29072
HP:0025031	Abnormality of the digestive system	4149	MAX	ORPHA:29072
HP:0025031	Abnormality of the digestive system	2099	ESR1	OMIM:157300
HP:0025031	Abnormality of the digestive system	7124	TNF	OMIM:157300
HP:0025031	Abnormality of the digestive system	3075	CFH	ORPHA:244242
HP:0025031	Abnormality of the digestive system	3426	CFI	ORPHA:244242
HP:0025031	Abnormality of the digestive system	4179	CD46	ORPHA:244242
HP:0025031	Abnormality of the digestive system	101101692	HELLPAR	ORPHA:244242
HP:0025031	Abnormality of the digestive system	3145	HMBS	OMIM:176000
HP:0025031	Abnormality of the digestive system	210	ALAD	ORPHA:100924
HP:0025031	Abnormality of the digestive system	11330	CTRC	ORPHA:103918
HP:0025031	Abnormality of the digestive system	6690	SPINK1	ORPHA:103918
HP:0025031	Abnormality of the digestive system	162417	NAGS	ORPHA:927
HP:0025031	Abnormality of the digestive system	1181	CLCN2	ORPHA:404
HP:0025031	Abnormality of the digestive system	1584	CYP11B1	ORPHA:403
HP:0025031	Abnormality of the digestive system	1585	CYP11B2	ORPHA:403
HP:0025031	Abnormality of the digestive system	5256	PHKA2	ORPHA:264580
HP:0025031	Abnormality of the digestive system	5261	PHKG2	ORPHA:264580
HP:0025031	Abnormality of the digestive system	1371	CPOX	ORPHA:79273
HP:0025031	Abnormality of the digestive system	3762	KCNJ5	ORPHA:251274
HP:0025031	Abnormality of the digestive system	2108	ETFA	OMIM:231680
HP:0025031	Abnormality of the digestive system	2109	ETFB	OMIM:231680
HP:0025031	Abnormality of the digestive system	2110	ETFDH	OMIM:231680
HP:0025031	Abnormality of the digestive system	6535	SLC6A8	OMIM:300352
HP:0025031	Abnormality of the digestive system	6535	SLC6A8	ORPHA:52503
HP:0025031	Abnormality of the digestive system	9860	LRIG2	OMIM:615112
HP:0025031	Abnormality of the digestive system	9860	LRIG2	ORPHA:2704
HP:0025031	Abnormality of the digestive system	55823	VPS11	OMIM:616683
HP:0025031	Abnormality of the digestive system	55823	VPS11	ORPHA:466934
HP:0025031	Abnormality of the digestive system	4010	LMX1B	ORPHA:2614
HP:0025031	Abnormality of the digestive system	4010	LMX1B	ORPHA:495818
HP:0025031	Abnormality of the digestive system	23417	MLYCD	OMIM:248360
HP:0025031	Abnormality of the digestive system	5457	POU4F1	ORPHA:314647
HP:0025031	Abnormality of the digestive system	215	ABCD1	ORPHA:388
HP:0025031	Abnormality of the digestive system	2668	GDNF	ORPHA:388
HP:0025031	Abnormality of the digestive system	1889	ECE1	ORPHA:388
HP:0025031	Abnormality of the digestive system	6720	SREBF1	ORPHA:388
HP:0025031	Abnormality of the digestive system	1908	EDN3	ORPHA:388
HP:0025031	Abnormality of the digestive system	1908	EDN3	ORPHA:897
HP:0025031	Abnormality of the digestive system	223117	SEMA3D	ORPHA:388
HP:0025031	Abnormality of the digestive system	1910	EDNRB	ORPHA:388
HP:0025031	Abnormality of the digestive system	1910	EDNRB	ORPHA:897
HP:0025031	Abnormality of the digestive system	10512	SEMA3C	ORPHA:388
HP:0025031	Abnormality of the digestive system	2064	ERBB2	ORPHA:388
HP:0025031	Abnormality of the digestive system	2065	ERBB3	ORPHA:388
HP:0025031	Abnormality of the digestive system	4902	NRTN	ORPHA:388
HP:0025031	Abnormality of the digestive system	7849	PAX8	OMIM:218700
HP:0025031	Abnormality of the digestive system	7849	PAX8	ORPHA:95720
HP:0025031	Abnormality of the digestive system	7849	PAX8	ORPHA:95713
HP:0025031	Abnormality of the digestive system	7849	PAX8	ORPHA:95712
HP:0025031	Abnormality of the digestive system	3074	HEXB	ORPHA:309162
HP:0025031	Abnormality of the digestive system	79577	CDC73	ORPHA:143
HP:0025031	Abnormality of the digestive system	79577	CDC73	ORPHA:99880
HP:0025031	Abnormality of the digestive system	249	ALPL	OMIM:241500
HP:0025031	Abnormality of the digestive system	89910	UBE3B	OMIM:244450
HP:0025031	Abnormality of the digestive system	6812	STXBP1	ORPHA:495818
HP:0025031	Abnormality of the digestive system	10730	YME1L1	OMIM:617302
HP:0025031	Abnormality of the digestive system	3508	IGHMBP2	OMIM:604320
HP:0025031	Abnormality of the digestive system	7253	TSHR	ORPHA:90673
HP:0025031	Abnormality of the digestive system	7253	TSHR	ORPHA:95720
HP:0025031	Abnormality of the digestive system	7253	TSHR	ORPHA:95713
HP:0025031	Abnormality of the digestive system	7252	TSHB	ORPHA:90674
HP:0025031	Abnormality of the digestive system	55650	PIGV	OMIM:239300
HP:0025031	Abnormality of the digestive system	8029	CUBN	ORPHA:35858
HP:0025031	Abnormality of the digestive system	81693	AMN	ORPHA:35858
HP:0025031	Abnormality of the digestive system	1896	EDA	OMIM:305100
HP:0025031	Abnormality of the digestive system	2590	GALNT2	OMIM:618885
HP:0025031	Abnormality of the digestive system	113189	CHST14	ORPHA:2953
HP:0025031	Abnormality of the digestive system	113189	CHST14	OMIM:601776
HP:0025031	Abnormality of the digestive system	29940	DSE	ORPHA:2953
HP:0025031	Abnormality of the digestive system	8398	PLA2G6	ORPHA:35069
HP:0025031	Abnormality of the digestive system	5621	PRNP	OMIM:600072
HP:0025031	Abnormality of the digestive system	7276	TTR	OMIM:105210
HP:0025031	Abnormality of the digestive system	7276	TTR	ORPHA:85447
HP:0025031	Abnormality of the digestive system	5095	PCCA	OMIM:606054
HP:0025031	Abnormality of the digestive system	5095	PCCA	ORPHA:35
HP:0025031	Abnormality of the digestive system	5096	PCCB	OMIM:606054
HP:0025031	Abnormality of the digestive system	5096	PCCB	ORPHA:35
HP:0025031	Abnormality of the digestive system	5442	POLRMT	OMIM:619743
HP:0025031	Abnormality of the digestive system	57178	ZMIZ1	OMIM:618659
HP:0025031	Abnormality of the digestive system	60495	HPSE2	ORPHA:2704
HP:0025031	Abnormality of the digestive system	60495	HPSE2	OMIM:236730
HP:0025031	Abnormality of the digestive system	27235	COQ2	ORPHA:98933
HP:0025031	Abnormality of the digestive system	27235	COQ2	ORPHA:227510
HP:0025031	Abnormality of the digestive system	330	BIRC3	ORPHA:52417
HP:0025031	Abnormality of the digestive system	10892	MALT1	ORPHA:52417
HP:0025031	Abnormality of the digestive system	27086	FOXP1	ORPHA:52417
HP:0025031	Abnormality of the digestive system	27086	FOXP1	ORPHA:391372
HP:0025031	Abnormality of the digestive system	3492	IGH	ORPHA:52417
HP:0025031	Abnormality of the digestive system	8915	BCL10	ORPHA:52417
HP:0025031	Abnormality of the digestive system	57680	CHD8	OMIM:615032
HP:0025031	Abnormality of the digestive system	23259	DDHD2	OMIM:615033
HP:0025031	Abnormality of the digestive system	5626	PROP1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	5626	PROP1	ORPHA:95494
HP:0025031	Abnormality of the digestive system	5626	PROP1	ORPHA:90695
HP:0025031	Abnormality of the digestive system	89884	LHX4	ORPHA:226307
HP:0025031	Abnormality of the digestive system	89884	LHX4	ORPHA:95494
HP:0025031	Abnormality of the digestive system	8022	LHX3	ORPHA:226307
HP:0025031	Abnormality of the digestive system	5449	POU1F1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	5449	POU1F1	ORPHA:95494
HP:0025031	Abnormality of the digestive system	8820	HESX1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	8820	HESX1	ORPHA:95494
HP:0025031	Abnormality of the digestive system	8820	HESX1	ORPHA:3157
HP:0025031	Abnormality of the digestive system	285175	UNC80	OMIM:616801
HP:0025031	Abnormality of the digestive system	285175	UNC80	ORPHA:371364
HP:0025031	Abnormality of the digestive system	6638	SNRPN	OMIM:105830
HP:0025031	Abnormality of the digestive system	7337	UBE3A	OMIM:105830
HP:0025031	Abnormality of the digestive system	7337	UBE3A	ORPHA:98794
HP:0025031	Abnormality of the digestive system	100134444	KCNJ18	ORPHA:79102
HP:0025031	Abnormality of the digestive system	2556	GABRA3	ORPHA:79102
HP:0025031	Abnormality of the digestive system	779	CACNA1S	ORPHA:79102
HP:0025031	Abnormality of the digestive system	6609	SMPD1	OMIM:257200
HP:0025031	Abnormality of the digestive system	554	AVPR2	ORPHA:223
HP:0025031	Abnormality of the digestive system	554	AVPR2	OMIM:304800
HP:0025031	Abnormality of the digestive system	359	AQP2	ORPHA:223
HP:0025031	Abnormality of the digestive system	359	AQP2	OMIM:125800
HP:0025031	Abnormality of the digestive system	3170	FOXA2	ORPHA:95494
HP:0025031	Abnormality of the digestive system	5015	OTX2	ORPHA:95494
HP:0025031	Abnormality of the digestive system	5015	OTX2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	6942	TCF20	OMIM:618430
HP:0025031	Abnormality of the digestive system	4665	NAB2	ORPHA:2126
HP:0025031	Abnormality of the digestive system	6778	STAT6	ORPHA:2126
HP:0025031	Abnormality of the digestive system	50506	DUOX2	ORPHA:226316
HP:0025031	Abnormality of the digestive system	50506	DUOX2	ORPHA:95716
HP:0025031	Abnormality of the digestive system	2678	GGT1	OMIM:231950
HP:0025031	Abnormality of the digestive system	6528	SLC5A5	OMIM:274400
HP:0025031	Abnormality of the digestive system	6528	SLC5A5	ORPHA:95716
HP:0025031	Abnormality of the digestive system	84978	FRMD5	OMIM:620094
HP:0025031	Abnormality of the digestive system	56246	MRAP	ORPHA:361
HP:0025031	Abnormality of the digestive system	6770	STAR	ORPHA:361
HP:0025031	Abnormality of the digestive system	4158	MC2R	ORPHA:361
HP:0025031	Abnormality of the digestive system	23530	NNT	ORPHA:361
HP:0025031	Abnormality of the digestive system	10587	TXNRD2	ORPHA:361
HP:0025031	Abnormality of the digestive system	51142	CHCHD2	OMIM:616710
HP:0025031	Abnormality of the digestive system	57165	GJC2	OMIM:613206
HP:0025031	Abnormality of the digestive system	4001	LMNB1	ORPHA:99027
HP:0025031	Abnormality of the digestive system	4001	LMNB1	OMIM:169500
HP:0025031	Abnormality of the digestive system	1188	CLCNKB	ORPHA:358
HP:0025031	Abnormality of the digestive system	6559	SLC12A3	ORPHA:358
HP:0025031	Abnormality of the digestive system	6559	SLC12A3	OMIM:263800
HP:0025031	Abnormality of the digestive system	846	CASR	OMIM:239200
HP:0025031	Abnormality of the digestive system	6658	SOX3	ORPHA:90695
HP:0025031	Abnormality of the digestive system	6658	SOX3	ORPHA:3157
HP:0025031	Abnormality of the digestive system	4558	MT-TF	ORPHA:550
HP:0025031	Abnormality of the digestive system	4572	MT-TQ	ORPHA:550
HP:0025031	Abnormality of the digestive system	4512	MT-CO1	ORPHA:550
HP:0025031	Abnormality of the digestive system	4513	MT-CO2	ORPHA:550
HP:0025031	Abnormality of the digestive system	4514	MT-CO3	ORPHA:550
HP:0025031	Abnormality of the digestive system	4578	MT-TW	ORPHA:550
HP:0025031	Abnormality of the digestive system	4540	MT-ND5	ORPHA:550
HP:0025031	Abnormality of the digestive system	4541	MT-ND6	ORPHA:550
HP:0025031	Abnormality of the digestive system	4535	MT-ND1	ORPHA:550
HP:0025031	Abnormality of the digestive system	4538	MT-ND4	ORPHA:550
HP:0025031	Abnormality of the digestive system	4574	MT-TS1	ORPHA:550
HP:0025031	Abnormality of the digestive system	4575	MT-TS2	ORPHA:550
HP:0025031	Abnormality of the digestive system	4564	MT-TH	ORPHA:550
HP:0025031	Abnormality of the digestive system	4803	NGF	OMIM:608654
HP:0025031	Abnormality of the digestive system	9256	TSPOAP1	ORPHA:101150
HP:0025031	Abnormality of the digestive system	7054	TH	ORPHA:101150
HP:0025031	Abnormality of the digestive system	23028	KDM1A	OMIM:616728
HP:0025031	Abnormality of the digestive system	7200	TRH	OMIM:275120
HP:0025031	Abnormality of the digestive system	7132	TNFRSF1A	ORPHA:32960
HP:0025031	Abnormality of the digestive system	6663	SOX10	ORPHA:897
HP:0025031	Abnormality of the digestive system	6663	SOX10	ORPHA:163746
HP:0025031	Abnormality of the digestive system	5172	SLC26A4	ORPHA:95720
HP:0025031	Abnormality of the digestive system	5172	SLC26A4	ORPHA:95713
HP:0025031	Abnormality of the digestive system	4948	OCA2	ORPHA:98794
HP:0025031	Abnormality of the digestive system	1725	DHPS	OMIM:618480
HP:0025031	Abnormality of the digestive system	405753	DUOXA2	ORPHA:95716
HP:0025031	Abnormality of the digestive system	7038	TG	ORPHA:95716
HP:0025031	Abnormality of the digestive system	7173	TPO	ORPHA:95716
HP:0025031	Abnormality of the digestive system	389434	IYD	ORPHA:95716
HP:0025031	Abnormality of the digestive system	7080	NKX2-1	ORPHA:95713
HP:0025031	Abnormality of the digestive system	1482	NKX2-5	ORPHA:95713
HP:0025031	Abnormality of the digestive system	1482	NKX2-5	ORPHA:95712
HP:0025031	Abnormality of the digestive system	2304	FOXE1	ORPHA:95713
HP:0025031	Abnormality of the digestive system	11280	SCN11A	ORPHA:46348
HP:0025031	Abnormality of the digestive system	11280	SCN11A	OMIM:615548
HP:0025031	Abnormality of the digestive system	6336	SCN10A	ORPHA:46348
HP:0025031	Abnormality of the digestive system	6557	SLC12A1	OMIM:601678
HP:0025031	Abnormality of the digestive system	23111	SPART	ORPHA:101000
HP:0025031	Abnormality of the digestive system	6907	TBL1X	OMIM:301033
HP:0025031	Abnormality of the digestive system	54681	P4HTM	OMIM:618493
HP:0025031	Abnormality of the digestive system	3758	KCNJ1	OMIM:241200
HP:0025031	Abnormality of the digestive system	7067	THRA	OMIM:614450
HP:0025031	Abnormality of the digestive system	5977	DPF2	OMIM:618027
HP:0025031	Abnormality of the digestive system	94005	PIGS	OMIM:618143
HP:0025031	Abnormality of the digestive system	6711	SPTBN1	OMIM:619475
HP:0025031	Abnormality of the digestive system	1497	CTNS	ORPHA:411629
HP:0025031	Abnormality of the digestive system	1457	CSNK2A1	OMIM:617062
HP:0025031	Abnormality of the digestive system	2222	FDFT1	OMIM:618156
HP:0025031	Abnormality of the digestive system	1674	DES	OMIM:601419
HP:0025031	Abnormality of the digestive system	55164	SHQ1	OMIM:619922
HP:0025031	Abnormality of the digestive system	23387	SIK3	OMIM:618162
HP:0025031	Abnormality of the digestive system	6904	TBCD	OMIM:617193
HP:0025031	Abnormality of the digestive system	72	ACTG2	OMIM:155310
HP:0025031	Abnormality of the digestive system	738	VPS51	OMIM:618606
HP:0025031	Abnormality of the digestive system	6340	SCNN1G	ORPHA:526
HP:0025031	Abnormality of the digestive system	6338	SCNN1B	ORPHA:526
HP:0025031	Abnormality of the digestive system	6337	SCNN1A	ORPHA:526
HP:0025031	Abnormality of the digestive system	10225	CD96	ORPHA:1308
HP:0025031	Abnormality of the digestive system	11011	TLK2	OMIM:618050
HP:0025031	Abnormality of the digestive system	2747	GLUD2	OMIM:168600
HP:0025031	Abnormality of the digestive system	126	ADH1C	OMIM:168600
HP:0025031	Abnormality of the digestive system	4137	MAPT	OMIM:168600
HP:0025031	Abnormality of the digestive system	4929	NR4A2	OMIM:168600
HP:0025031	Abnormality of the digestive system	6908	TBP	OMIM:168600
HP:0025031	Abnormality of the digestive system	4576	MT-TT	OMIM:168600
HP:0025031	Abnormality of the digestive system	9627	SNCAIP	OMIM:168600
HP:0025031	Abnormality of the digestive system	6311	ATXN2	OMIM:168600
HP:0025031	Abnormality of the digestive system	6315	ATXN8OS	OMIM:168600
HP:0025031	Abnormality of the digestive system	128674	PROKR2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	6657	SOX2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	23394	ADNP	ORPHA:404448
HP:0025031	Abnormality of the digestive system	23394	ADNP	OMIM:615873
HP:0025031	Abnormality of the digestive system	26235	FBXL4	OMIM:615471
HP:0025031	Abnormality of the digestive system	8367	H4C5	OMIM:619950
HP:0025031	Abnormality of the digestive system	340533	NEXMIF	OMIM:300912
HP:0025031	Abnormality of the digestive system	340533	NEXMIF	ORPHA:85277
HP:0025031	Abnormality of the digestive system	57128	LYRM4	OMIM:615595
HP:0025031	Abnormality of the digestive system	2132	EXT2	OMIM:616682
HP:0025031	Abnormality of the digestive system	2132	EXT2	ORPHA:466926
HP:0025031	Abnormality of the digestive system	8518	ELP1	ORPHA:1764
HP:0025031	Abnormality of the digestive system	8518	ELP1	OMIM:223900
HP:0025031	Abnormality of the digestive system	1161	ERCC8	ORPHA:90324
HP:0025031	Abnormality of the digestive system	2074	ERCC6	ORPHA:90324
HP:0025031	Abnormality of the digestive system	115908	CTHRC1	OMIM:614266
HP:0025031	Abnormality of the digestive system	4481	MSR1	OMIM:614266
HP:0025031	Abnormality of the digestive system	51008	ASCC1	OMIM:614266
HP:0025031	Abnormality of the digestive system	5238	PGM3	ORPHA:443811
HP:0025031	Abnormality of the digestive system	4897	NRCAM	OMIM:619833
HP:0025031	Abnormality of the digestive system	81857	MED25	OMIM:616449
HP:0025031	Abnormality of the digestive system	79848	CSPP1	ORPHA:397715
HP:0025031	Abnormality of the digestive system	9786	KIAA0586	ORPHA:397715
HP:0025031	Abnormality of the digestive system	4312	MMP1	ORPHA:79408
HP:0025031	Abnormality of the digestive system	1294	COL7A1	ORPHA:79408
HP:0025031	Abnormality of the digestive system	1294	COL7A1	ORPHA:89842
HP:0025031	Abnormality of the digestive system	7259	TSPYL1	OMIM:608800
HP:0025031	Abnormality of the digestive system	7259	TSPYL1	ORPHA:168593
HP:0025031	Abnormality of the digestive system	116931	MED12L	OMIM:618872
HP:0025031	Abnormality of the digestive system	161582	DNAAF4	OMIM:615482
HP:0025031	Abnormality of the digestive system	3020	H3-3A	OMIM:619720
HP:0025031	Abnormality of the digestive system	3021	H3-3B	OMIM:619721
HP:0025031	Abnormality of the digestive system	65993	MRPS34	OMIM:617664
HP:0025031	Abnormality of the digestive system	80816	ASXL3	OMIM:615485
HP:0025031	Abnormality of the digestive system	283489	CHAMP1	OMIM:616579
HP:0025031	Abnormality of the digestive system	166378	AFG2A	OMIM:616577
HP:0025031	Abnormality of the digestive system	84466	MEGF10	OMIM:614399
HP:0025031	Abnormality of the digestive system	84520	GON7	OMIM:619603
HP:0025031	Abnormality of the digestive system	9723	SEMA3E	ORPHA:138
HP:0025031	Abnormality of the digestive system	3908	LAMA2	ORPHA:258
HP:0025031	Abnormality of the digestive system	3980	LIG3	ORPHA:298
HP:0025031	Abnormality of the digestive system	50484	RRM2B	ORPHA:298
HP:0025031	Abnormality of the digestive system	50484	RRM2B	ORPHA:254892
HP:0025031	Abnormality of the digestive system	6660	SOX5	ORPHA:313892
HP:0025031	Abnormality of the digestive system	535	ATP6V0A1	OMIM:619971
HP:0025031	Abnormality of the digestive system	3190	HNRNPK	OMIM:616580
HP:0025031	Abnormality of the digestive system	816	CAMK2B	OMIM:617799
HP:0025031	Abnormality of the digestive system	7994	KAT6A	ORPHA:457193
HP:0025031	Abnormality of the digestive system	7994	KAT6A	OMIM:616268
HP:0025031	Abnormality of the digestive system	1183	CLCN4	ORPHA:485350
HP:0025031	Abnormality of the digestive system	5832	ALDH18A1	OMIM:601162
HP:0025031	Abnormality of the digestive system	5832	ALDH18A1	ORPHA:447757
HP:0025031	Abnormality of the digestive system	1277	COL1A1	ORPHA:287
HP:0025031	Abnormality of the digestive system	1289	COL5A1	ORPHA:287
HP:0025031	Abnormality of the digestive system	1290	COL5A2	ORPHA:287
HP:0025031	Abnormality of the digestive system	10484	SEC23A	OMIM:607812
HP:0025031	Abnormality of the digestive system	22872	SEC31A	OMIM:618651
HP:0025031	Abnormality of the digestive system	4297	KMT2A	ORPHA:319182
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:220386
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93926
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93924
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93925
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:220386
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93926
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93924
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93926
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93924
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93925
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2260	FGFR1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2260	FGFR1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	23007	PLCH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	10735	STAG2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	10735	STAG2	OMIM:301043
HP:0025031	Abnormality of the digestive system	10735	STAG2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	3737	KCNA2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	1759	DNM1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	8120	AP3B2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	523	ATP6V1A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	10991	SLC38A3	ORPHA:442835
HP:0025031	Abnormality of the digestive system	10991	SLC38A3	OMIM:619881
HP:0025031	Abnormality of the digestive system	51343	FZR1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	22906	TRAK1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2566	GABRG2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	1917	EEF1A2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2561	GABRB2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	8831	SYNGAP1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	7532	YWHAG	ORPHA:442835
HP:0025031	Abnormality of the digestive system	79876	UBA5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	79876	UBA5	OMIM:617132
HP:0025031	Abnormality of the digestive system	6328	SCN3A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2558	GABRA5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	781	CACNA2D1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2906	GRIN2D	ORPHA:442835
HP:0025031	Abnormality of the digestive system	116150	NUS1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	10659	CELF2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	774	CACNA1B	ORPHA:442835
HP:0025031	Abnormality of the digestive system	774	CACNA1B	OMIM:618497
HP:0025031	Abnormality of the digestive system	1213	CLTC	ORPHA:442835
HP:0025031	Abnormality of the digestive system	1213	CLTC	OMIM:617854
HP:0025031	Abnormality of the digestive system	51741	WWOX	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23334	SZT2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	51412	ACTL6B	ORPHA:442835
HP:0025031	Abnormality of the digestive system	348980	HCN1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6506	SLC1A2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	8867	SYNJ1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2258	FGF13	ORPHA:442835
HP:0025031	Abnormality of the digestive system	477	ATP1A2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	3745	KCNB1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	284111	SLC13A5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	25977	NECAP1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	16	AARS1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6334	SCN8A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	22866	CNKSR2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	9568	GABBR2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2555	GABRA2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	55152	DALRD3	ORPHA:442835
HP:0025031	Abnormality of the digestive system	773	CACNA1A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	26999	CYFIP2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	4915	NTRK2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	25973	PARS2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23097	CDK19	ORPHA:442835
HP:0025031	Abnormality of the digestive system	64801	ARV1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	64801	ARV1	OMIM:617020
HP:0025031	Abnormality of the digestive system	79947	DHDDS	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2257	FGF12	ORPHA:442835
HP:0025031	Abnormality of the digestive system	5530	PPP3CA	ORPHA:442835
HP:0025031	Abnormality of the digestive system	478	ATP1A3	ORPHA:442835
HP:0025031	Abnormality of the digestive system	253738	EBF3	OMIM:617330
HP:0025031	Abnormality of the digestive system	2261	FGFR3	OMIM:616482
HP:0025031	Abnormality of the digestive system	9895	TECPR2	OMIM:615031
HP:0025031	Abnormality of the digestive system	8493	PPM1D	OMIM:617450
HP:0025031	Abnormality of the digestive system	23126	POGZ	OMIM:616364
HP:0025031	Abnormality of the digestive system	23126	POGZ	ORPHA:468678
HP:0025031	Abnormality of the digestive system	27125	AFF4	OMIM:616368
HP:0025031	Abnormality of the digestive system	27125	AFF4	ORPHA:444077
HP:0025031	Abnormality of the digestive system	51692	CPSF3	OMIM:619876
HP:0025031	Abnormality of the digestive system	8021	NUP214	OMIM:618426
HP:0025031	Abnormality of the digestive system	6134	RPL10	ORPHA:459070
HP:0025031	Abnormality of the digestive system	6134	RPL10	OMIM:300998
HP:0025031	Abnormality of the digestive system	6134	RPL10	ORPHA:435938
HP:0025031	Abnormality of the digestive system	415	ARSL	ORPHA:79345
HP:0025031	Abnormality of the digestive system	79796	ALG9	ORPHA:79328
HP:0025031	Abnormality of the digestive system	4247	MGAT2	ORPHA:79329
HP:0025031	Abnormality of the digestive system	3785	KCNQ2	ORPHA:1949
HP:0025031	Abnormality of the digestive system	3786	KCNQ3	ORPHA:1949
HP:0025031	Abnormality of the digestive system	11231	SEC63	ORPHA:2924
HP:0025031	Abnormality of the digestive system	5589	PRKCSH	ORPHA:2924
HP:0025031	Abnormality of the digestive system	4041	LRP5	ORPHA:2924
HP:0025031	Abnormality of the digestive system	2542	SLC37A4	OMIM:619525
HP:0025031	Abnormality of the digestive system	9772	TMEM94	OMIM:618316
HP:0025031	Abnormality of the digestive system	51341	ZBTB7A	OMIM:619769
HP:0025031	Abnormality of the digestive system	9338	TCEAL1	OMIM:301094
HP:0025031	Abnormality of the digestive system	6925	TCF4	OMIM:610954
HP:0025031	Abnormality of the digestive system	6925	TCF4	ORPHA:2896
HP:0025031	Abnormality of the digestive system	10743	RAI1	ORPHA:1713
HP:0025031	Abnormality of the digestive system	10743	RAI1	ORPHA:819
HP:0025031	Abnormality of the digestive system	23314	SATB2	ORPHA:576283
HP:0025031	Abnormality of the digestive system	23162	MAPK8IP3	OMIM:618443
HP:0025031	Abnormality of the digestive system	54941	RNF125	OMIM:616260
HP:0025031	Abnormality of the digestive system	197258	FCSK	OMIM:618324
HP:0025031	Abnormality of the digestive system	79989	IFT56	OMIM:619534
HP:0025031	Abnormality of the digestive system	85365	ALG2	OMIM:607906
HP:0025031	Abnormality of the digestive system	259232	NALCN	OMIM:616266
HP:0025031	Abnormality of the digestive system	259232	NALCN	OMIM:615419
HP:0025031	Abnormality of the digestive system	23219	FBXO28	OMIM:619777
HP:0025031	Abnormality of the digestive system	51322	WAC	ORPHA:466950
HP:0025031	Abnormality of the digestive system	79087	ALG12	ORPHA:79324
HP:0025031	Abnormality of the digestive system	2200	FBN1	OMIM:184900
HP:0025031	Abnormality of the digestive system	2200	FBN1	ORPHA:2462
HP:0025031	Abnormality of the digestive system	3756	KCNH1	OMIM:611816
HP:0025031	Abnormality of the digestive system	3756	KCNH1	OMIM:135500
HP:0025031	Abnormality of the digestive system	641	BLM	ORPHA:125
HP:0025031	Abnormality of the digestive system	1387	CREBBP	OMIM:618332
HP:0025031	Abnormality of the digestive system	1387	CREBBP	ORPHA:353281
HP:0025031	Abnormality of the digestive system	1387	CREBBP	OMIM:180849
HP:0025031	Abnormality of the digestive system	1387	CREBBP	ORPHA:353277
HP:0025031	Abnormality of the digestive system	8621	CDK13	OMIM:617360
HP:0025031	Abnormality of the digestive system	58497	PRUNE1	ORPHA:544469
HP:0025031	Abnormality of the digestive system	1642	DDB1	OMIM:619426
HP:0025031	Abnormality of the digestive system	6857	SYT1	OMIM:618218
HP:0025031	Abnormality of the digestive system	6857	SYT1	ORPHA:522077
HP:0025031	Abnormality of the digestive system	389827	MYMK	OMIM:254940
HP:0025031	Abnormality of the digestive system	2902	GRIN1	ORPHA:208447
HP:0025031	Abnormality of the digestive system	2902	GRIN1	OMIM:619814
HP:0025031	Abnormality of the digestive system	291	SLC25A4	ORPHA:254892
HP:0025031	Abnormality of the digestive system	56652	TWNK	ORPHA:254892
HP:0025031	Abnormality of the digestive system	11232	POLG2	ORPHA:254892
HP:0025031	Abnormality of the digestive system	11232	POLG2	OMIM:610131
HP:0025031	Abnormality of the digestive system	6477	SIAH1	OMIM:619314
HP:0025031	Abnormality of the digestive system	4000	LMNA	OMIM:619793
HP:0025031	Abnormality of the digestive system	79932	KIAA0319L	ORPHA:220402
HP:0025031	Abnormality of the digestive system	29998	BICRA	OMIM:619325
HP:0025031	Abnormality of the digestive system	2033	EP300	ORPHA:353284
HP:0025031	Abnormality of the digestive system	2033	EP300	OMIM:180849
HP:0025031	Abnormality of the digestive system	3930	LBR	ORPHA:779
HP:0025031	Abnormality of the digestive system	443	ASPA	ORPHA:314911
HP:0025031	Abnormality of the digestive system	55777	MBD5	OMIM:156200
HP:0025031	Abnormality of the digestive system	112939	NACC1	OMIM:617393
HP:0025031	Abnormality of the digestive system	4998	ORC1	OMIM:224690
HP:0025031	Abnormality of the digestive system	54496	PRMT7	OMIM:617157
HP:0025031	Abnormality of the digestive system	54551	MAGEL2	ORPHA:398069
HP:0025031	Abnormality of the digestive system	54551	MAGEL2	OMIM:615547
HP:0025031	Abnormality of the digestive system	201163	FLCN	OMIM:610883
HP:0025031	Abnormality of the digestive system	51079	NDUFA13	OMIM:618249
HP:0025031	Abnormality of the digestive system	9719	ADAMTSL2	ORPHA:1901
HP:0025031	Abnormality of the digestive system	9509	ADAMTS2	ORPHA:1901
HP:0025031	Abnormality of the digestive system	2778	GNAS	ORPHA:562
HP:0025031	Abnormality of the digestive system	22827	PUF60	ORPHA:508488
HP:0025031	Abnormality of the digestive system	7703	PCGF2	OMIM:618371
HP:0025031	Abnormality of the digestive system	9496	TBX4	ORPHA:261279
HP:0025031	Abnormality of the digestive system	2743	GLRB	ORPHA:3197
HP:0025031	Abnormality of the digestive system	2743	GLRB	OMIM:614619
HP:0025031	Abnormality of the digestive system	2741	GLRA1	ORPHA:3197
HP:0025031	Abnormality of the digestive system	10243	GPHN	ORPHA:3197
HP:0025031	Abnormality of the digestive system	84896	ATAD1	ORPHA:3197
HP:0025031	Abnormality of the digestive system	9152	SLC6A5	ORPHA:3197
HP:0025031	Abnormality of the digestive system	9152	SLC6A5	OMIM:614618
HP:0025031	Abnormality of the digestive system	1760	DMPK	ORPHA:589821
HP:0025031	Abnormality of the digestive system	372	ARCN1	OMIM:617164
HP:0025031	Abnormality of the digestive system	8802	SUCLG1	ORPHA:17
HP:0025031	Abnormality of the digestive system	1822	ATN1	OMIM:618494
HP:0025031	Abnormality of the digestive system	3188	HNRNPH2	OMIM:300986
HP:0025031	Abnormality of the digestive system	5000	ORC4	OMIM:613800
HP:0025031	Abnormality of the digestive system	6304	SATB1	OMIM:619229
HP:0025031	Abnormality of the digestive system	23594	ORC6	OMIM:613803
HP:0025031	Abnormality of the digestive system	990	CDC6	OMIM:613805
HP:0025031	Abnormality of the digestive system	4629	MYH11	OMIM:619350
HP:0025031	Abnormality of the digestive system	37	ACADVL	OMIM:201475
HP:0025031	Abnormality of the digestive system	2290	FOXG1	ORPHA:261144
HP:0025031	Abnormality of the digestive system	2290	FOXG1	OMIM:613454
HP:0025031	Abnormality of the digestive system	54809	SAMD9	OMIM:617053
HP:0025031	Abnormality of the digestive system	57003	CCDC47	OMIM:618268
HP:0025031	Abnormality of the digestive system	10681	GNB5	OMIM:617173
HP:0025031	Abnormality of the digestive system	10681	GNB5	OMIM:617182
HP:0025031	Abnormality of the digestive system	10681	GNB5	ORPHA:542306
HP:0025031	Abnormality of the digestive system	10526	IPO8	OMIM:619472
HP:0025031	Abnormality of the digestive system	64840	PORCN	ORPHA:2092
HP:0025031	Abnormality of the digestive system	10847	SRCAP	OMIM:619595
HP:0025031	Abnormality of the digestive system	10847	SRCAP	ORPHA:2044
HP:0025031	Abnormality of the digestive system	51604	PIGT	ORPHA:369837
HP:0025031	Abnormality of the digestive system	246329	STAC3	ORPHA:168572
HP:0025031	Abnormality of the digestive system	526	ATP6V1B2	ORPHA:79500
HP:0025031	Abnormality of the digestive system	57465	TBC1D24	ORPHA:79500
HP:0025031	Abnormality of the digestive system	11198	SUPT16H	OMIM:619480
HP:0025031	Abnormality of the digestive system	2887	GRB10	ORPHA:96182
HP:0025031	Abnormality of the digestive system	283446	MYO1H	OMIM:619482
HP:0025031	Abnormality of the digestive system	6872	TAF1	OMIM:300966
HP:0025031	Abnormality of the digestive system	4841	NONO	OMIM:300967
HP:0025031	Abnormality of the digestive system	4841	NONO	ORPHA:466791
HP:0025031	Abnormality of the digestive system	5058	PAK1	OMIM:618158
HP:0025031	Abnormality of the digestive system	57038	RARS2	OMIM:611523
HP:0025031	Abnormality of the digestive system	8911	CACNA1I	OMIM:620114
HP:0025031	Abnormality of the digestive system	10551	AGR2	OMIM:620233
HP:0025031	Abnormality of the digestive system	4221	MEN1	ORPHA:652
HP:0025031	Abnormality of the digestive system	1027	CDKN1B	ORPHA:652
HP:0025031	Abnormality of the digestive system	1026	CDKN1A	ORPHA:652
HP:0025031	Abnormality of the digestive system	1030	CDKN2B	ORPHA:652
HP:0025031	Abnormality of the digestive system	1031	CDKN2C	ORPHA:652
HP:0025031	Abnormality of the digestive system	80267	EDEM3	OMIM:619493
HP:0025031	Abnormality of the digestive system	1650	DDOST	ORPHA:300536
HP:0025031	Abnormality of the digestive system	1650	DDOST	OMIM:614507
HP:0025031	Abnormality of the digestive system	6748	SSR4	ORPHA:370927
HP:0025031	Abnormality of the digestive system	4508	MT-ATP6	ORPHA:225154
HP:0025031	Abnormality of the digestive system	23636	NUP62	ORPHA:225154
HP:0025031	Abnormality of the digestive system	103	ADAR	ORPHA:225154
HP:0025031	Abnormality of the digestive system	10479	SLC9A6	ORPHA:85278
HP:0025031	Abnormality of the digestive system	1984	EIF5A	OMIM:619376
HP:0025031	Abnormality of the digestive system	79651	RHBDF2	ORPHA:2198
HP:0025031	Abnormality of the digestive system	2581	GALC	ORPHA:206436
HP:0025031	Abnormality of the digestive system	5660	PSAP	ORPHA:206436
HP:0025031	Abnormality of the digestive system	10079	ATP9A	OMIM:620242
HP:0025031	Abnormality of the digestive system	2629	GBA1	OMIM:230900
HP:0025031	Abnormality of the digestive system	27161	AGO2	OMIM:619149
HP:0025031	Abnormality of the digestive system	55294	FBXW7	OMIM:620012
HP:0025031	Abnormality of the digestive system	9325	TRIP4	ORPHA:486815
HP:0025031	Abnormality of the digestive system	8506	CNTNAP1	OMIM:618186
HP:0025031	Abnormality of the digestive system	55503	TRPV6	OMIM:618188
HP:0025031	Abnormality of the digestive system	7355	SLC35A2	ORPHA:356961
HP:0025031	Abnormality of the digestive system	7355	SLC35A2	OMIM:300896
HP:0025031	Abnormality of the digestive system	673	BRAF	OMIM:115150
HP:0025031	Abnormality of the digestive system	10274	STAG1	ORPHA:502434
HP:0025031	Abnormality of the digestive system	10274	STAG1	OMIM:617635
HP:0025031	Abnormality of the digestive system	64324	NSD1	ORPHA:821
HP:0025031	Abnormality of the digestive system	64324	NSD1	OMIM:117550
HP:0025031	Abnormality of the digestive system	29072	SETD2	ORPHA:821
HP:0025031	Abnormality of the digestive system	10297	APC2	ORPHA:821
HP:0025031	Abnormality of the digestive system	5447	POR	ORPHA:95699
HP:0025031	Abnormality of the digestive system	6531	SLC6A3	ORPHA:238455
HP:0025031	Abnormality of the digestive system	6531	SLC6A3	OMIM:613135
HP:0025031	Abnormality of the digestive system	80232	WDR26	ORPHA:513456
HP:0025031	Abnormality of the digestive system	51112	TRAPPC12	ORPHA:500144
HP:0025031	Abnormality of the digestive system	51506	UFC1	OMIM:618076
HP:0025031	Abnormality of the digestive system	2314	FLII	ORPHA:819
HP:0025031	Abnormality of the digestive system	23096	IQSEC2	ORPHA:819
HP:0025031	Abnormality of the digestive system	10522	DEAF1	ORPHA:819
HP:0025031	Abnormality of the digestive system	9915	ARNT2	OMIM:615926
HP:0025031	Abnormality of the digestive system	10978	CLP1	OMIM:615803
HP:0025031	Abnormality of the digestive system	5979	RET	ORPHA:99803
HP:0025031	Abnormality of the digestive system	429	ASCL1	ORPHA:99803
HP:0025031	Abnormality of the digestive system	8929	PHOX2B	ORPHA:99803
HP:0025031	Abnormality of the digestive system	3119	HLA-DQB1	ORPHA:930
HP:0025031	Abnormality of the digestive system	9244	CRLF1	ORPHA:930
HP:0025031	Abnormality of the digestive system	3117	HLA-DQA1	ORPHA:930
HP:0025031	Abnormality of the digestive system	4842	NOS1	ORPHA:930
HP:0025031	Abnormality of the digestive system	6595	SMARCA2	OMIM:619293
HP:0025031	Abnormality of the digestive system	3899	AFF3	OMIM:619297
HP:0025031	Abnormality of the digestive system	1136	CHRNA3	OMIM:191800
HP:0025031	Abnormality of the digestive system	5119	CHMP1A	OMIM:614961
HP:0025031	Abnormality of the digestive system	6440	SFTPC	ORPHA:2032
HP:0025031	Abnormality of the digestive system	729238	SFTPA2	ORPHA:2032
HP:0025031	Abnormality of the digestive system	79991	STN1	ORPHA:2032
HP:0025031	Abnormality of the digestive system	653509	SFTPA1	ORPHA:2032
HP:0025031	Abnormality of the digestive system	21	ABCA3	ORPHA:2032
HP:0025031	Abnormality of the digestive system	1832	DSP	ORPHA:2032
HP:0025031	Abnormality of the digestive system	727897	MUC5B	ORPHA:2032
HP:0025031	Abnormality of the digestive system	10144	FAM13A	ORPHA:2032
HP:0025031	Abnormality of the digestive system	23250	ATP11A	ORPHA:2032
HP:0025031	Abnormality of the digestive system	91039	DPP9	ORPHA:2032
HP:0025031	Abnormality of the digestive system	546	ATRX	ORPHA:847
HP:0025031	Abnormality of the digestive system	546	ATRX	OMIM:309580
HP:0025031	Abnormality of the digestive system	546	ATRX	OMIM:301040
HP:0025031	Abnormality of the digestive system	8546	AP3B1	OMIM:608233
HP:0025031	Abnormality of the digestive system	4212	MEIS2	OMIM:600987
HP:0025031	Abnormality of the digestive system	7156	TOP3A	OMIM:618097
HP:0025031	Abnormality of the digestive system	132158	GLYCTK	OMIM:220120
HP:0025031	Abnormality of the digestive system	53834	FGFRL1	OMIM:194190
HP:0025031	Abnormality of the digestive system	1487	CTBP1	OMIM:194190
HP:0025031	Abnormality of the digestive system	3954	LETM1	OMIM:194190
HP:0025031	Abnormality of the digestive system	7468	NSD2	OMIM:194190
HP:0025031	Abnormality of the digestive system	10815	CPLX1	OMIM:194190
HP:0025031	Abnormality of the digestive system	5826	ABCD4	OMIM:614857
HP:0025031	Abnormality of the digestive system	10558	SPTLC1	ORPHA:36386
HP:0025031	Abnormality of the digestive system	25923	ATL3	ORPHA:36386
HP:0025031	Abnormality of the digestive system	9517	SPTLC2	ORPHA:36386
HP:0025031	Abnormality of the digestive system	51062	ATL1	ORPHA:36386
HP:0025031	Abnormality of the digestive system	7840	ALMS1	ORPHA:64
HP:0025031	Abnormality of the digestive system	4204	MECP2	OMIM:300673
HP:0025031	Abnormality of the digestive system	4204	MECP2	OMIM:312750
HP:0025031	Abnormality of the digestive system	4204	MECP2	OMIM:300260
HP:0025031	Abnormality of the digestive system	6792	CDKL5	OMIM:300672
HP:0025031	Abnormality of the digestive system	56006	SMG9	OMIM:616920
HP:0025031	Abnormality of the digestive system	2332	FMR1	ORPHA:908
HP:0025031	Abnormality of the digestive system	2332	FMR1	ORPHA:449291
HP:0025031	Abnormality of the digestive system	10056	FARSB	OMIM:613658
HP:0025031	Abnormality of the digestive system	9289	ADGRG1	ORPHA:98889
HP:0025031	Abnormality of the digestive system	5297	PI4KA	ORPHA:98889
HP:0025031	Abnormality of the digestive system	27286	SRPX2	ORPHA:98889
HP:0025031	Abnormality of the digestive system	23137	SMC5	OMIM:620185
HP:0025031	Abnormality of the digestive system	51611	DPH5	OMIM:620070
HP:0025031	Abnormality of the digestive system	6558	SLC12A2	OMIM:619080
HP:0025031	Abnormality of the digestive system	23261	CAMTA1	OMIM:614756
HP:0025031	Abnormality of the digestive system	10472	ZBTB18	OMIM:612337
HP:0025031	Abnormality of the digestive system	3187	HNRNPH1	OMIM:620083
HP:0025031	Abnormality of the digestive system	2535	FZD2	OMIM:164745
HP:0025031	Abnormality of the digestive system	50628	GEMIN4	OMIM:617913
HP:0025031	Abnormality of the digestive system	6509	SLC1A4	ORPHA:447997
HP:0025031	Abnormality of the digestive system	55023	PHIP	ORPHA:589905
HP:0025031	Abnormality of the digestive system	54463	RETREG1	OMIM:201300
HP:0025031	Abnormality of the digestive system	65125	WNK1	OMIM:201300
HP:0025031	Abnormality of the digestive system	6335	SCN9A	OMIM:201300
HP:0025031	Abnormality of the digestive system	547	KIF1A	OMIM:201300
HP:0025031	Abnormality of the digestive system	667	DST	OMIM:614653
HP:0025031	Abnormality of the digestive system	55690	PACS1	ORPHA:329224
HP:0025031	Abnormality of the digestive system	51053	GMNN	OMIM:616835
HP:0025031	Abnormality of the digestive system	196528	ARID2	OMIM:617808
HP:0025031	Abnormality of the digestive system	1288	COL4A6	ORPHA:1018
HP:0025031	Abnormality of the digestive system	1287	COL4A5	ORPHA:1018
HP:0025031	Abnormality of the digestive system	91949	COG7	OMIM:608779
HP:0025031	Abnormality of the digestive system	9780	PIEZO1	OMIM:616843
HP:0025031	Abnormality of the digestive system	100151683	RNU4ATAC	OMIM:210710
HP:0025031	Abnormality of the digestive system	1305	COL13A1	OMIM:616720
HP:0025031	Abnormality of the digestive system	1305	COL13A1	ORPHA:98914
HP:0025031	Abnormality of the digestive system	1280	COL2A1	ORPHA:93316
HP:0025031	Abnormality of the digestive system	85358	SHANK3	OMIM:606232
HP:0025031	Abnormality of the digestive system	85358	SHANK3	ORPHA:48652
HP:0025031	Abnormality of the digestive system	113179	ADAT3	ORPHA:363528
HP:0025031	Abnormality of the digestive system	11151	CORO1A	OMIM:615401
HP:0025031	Abnormality of the digestive system	54931	TRMT10C	OMIM:616974
HP:0025031	Abnormality of the digestive system	10157	AASS	ORPHA:2203
HP:0025031	Abnormality of the digestive system	3097	HIVEP2	OMIM:616977
HP:0025031	Abnormality of the digestive system	1644	DDC	OMIM:608643
HP:0025031	Abnormality of the digestive system	10560	SLC19A2	OMIM:249270
HP:0025031	Abnormality of the digestive system	6709	SPTAN1	OMIM:613477
HP:0025031	Abnormality of the digestive system	9378	NRXN1	OMIM:614325
HP:0025031	Abnormality of the digestive system	5160	PDHA1	ORPHA:79243
HP:0025031	Abnormality of the digestive system	84693	MCEE	OMIM:251120
HP:0025031	Abnormality of the digestive system	10943	MSL3	OMIM:301032
HP:0025031	Abnormality of the digestive system	5723	PSPH	ORPHA:79350
HP:0025031	Abnormality of the digestive system	26227	PHGDH	ORPHA:79351
HP:0025031	Abnormality of the digestive system	59336	PRDM13	OMIM:619909
HP:0025031	Abnormality of the digestive system	7874	USP7	ORPHA:500055
HP:0025031	Abnormality of the digestive system	10664	CTCF	ORPHA:363611
HP:0025031	Abnormality of the digestive system	29957	SLC25A24	OMIM:612289
HP:0025031	Abnormality of the digestive system	80152	CENPT	OMIM:618702
HP:0025031	Abnormality of the digestive system	3575	IL7R	OMIM:608971
HP:0025031	Abnormality of the digestive system	5293	PIK3CD	ORPHA:221139
HP:0025031	Abnormality of the digestive system	90417	KNSTRN	ORPHA:221139
HP:0025031	Abnormality of the digestive system	8405	SPOP	OMIM:618829
HP:0025031	Abnormality of the digestive system	10128	LRPPRC	ORPHA:70472
HP:0025031	Abnormality of the digestive system	83737	ITCH	OMIM:613385
HP:0025031	Abnormality of the digestive system	283989	TSEN54	ORPHA:2524
HP:0025031	Abnormality of the digestive system	116461	TSEN15	ORPHA:2524
HP:0025031	Abnormality of the digestive system	79042	TSEN34	ORPHA:2524
HP:0025031	Abnormality of the digestive system	80746	TSEN2	ORPHA:2524
HP:0025031	Abnormality of the digestive system	51091	SEPSECS	ORPHA:2524
HP:0025031	Abnormality of the digestive system	57688	ZSWIM6	OMIM:617865
HP:0025031	Abnormality of the digestive system	2890	GRIA1	OMIM:619927
HP:0025031	Abnormality of the digestive system	60482	SLC5A7	ORPHA:98914
HP:0025031	Abnormality of the digestive system	4649	MYO9A	ORPHA:98914
HP:0025031	Abnormality of the digestive system	1103	CHAT	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6576	SLC25A1	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6843	VAMP1	ORPHA:98914
HP:0025031	Abnormality of the digestive system	375790	AGRN	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6572	SLC18A3	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6616	SNAP25	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6651	SON	ORPHA:500150
HP:0025031	Abnormality of the digestive system	9757	KMT2B	OMIM:619934
HP:0025031	Abnormality of the digestive system	5430	POLR2A	OMIM:618603
HP:0025031	Abnormality of the digestive system	57731	SPTBN4	OMIM:617519
HP:0025031	Abnormality of the digestive system	29928	TIMM22	OMIM:618851
HP:0025031	Abnormality of the digestive system	8803	SUCLA2	OMIM:612073
HP:0025031	Abnormality of the digestive system	25871	NEPRO	OMIM:618853
HP:0025031	Abnormality of the digestive system	23476	BRD4	ORPHA:199
HP:0025031	Abnormality of the digestive system	9126	SMC3	ORPHA:199
HP:0025031	Abnormality of the digestive system	8243	SMC1A	ORPHA:199
HP:0025031	Abnormality of the digestive system	25836	NIPBL	ORPHA:199
HP:0025031	Abnormality of the digestive system	25836	NIPBL	OMIM:122470
HP:0025031	Abnormality of the digestive system	55869	HDAC8	ORPHA:199
HP:0025031	Abnormality of the digestive system	5885	RAD21	ORPHA:199
HP:0025031	Abnormality of the digestive system	375	ARF1	ORPHA:98892
HP:0025031	Abnormality of the digestive system	4131	MAP1B	ORPHA:98892
HP:0025031	Abnormality of the digestive system	23327	NEDD4L	ORPHA:98892
HP:0025031	Abnormality of the digestive system	160418	TMTC3	ORPHA:98892
HP:0025031	Abnormality of the digestive system	10564	ARFGEF2	ORPHA:98892
HP:0025031	Abnormality of the digestive system	55780	ERMARD	ORPHA:98892
HP:0025031	Abnormality of the digestive system	1859	DYRK1A	ORPHA:268261
HP:0025031	Abnormality of the digestive system	91754	NEK9	OMIM:614262
HP:0025031	Abnormality of the digestive system	8425	LTBP4	OMIM:613177
HP:0025031	Abnormality of the digestive system	6885	MAP3K7	OMIM:617137
HP:0025031	Abnormality of the digestive system	4744	NEFH	OMIM:616924
HP:0025031	Abnormality of the digestive system	9759	HDAC4	ORPHA:1001
HP:0025031	Abnormality of the digestive system	5590	PRKCZ	ORPHA:1606
HP:0025031	Abnormality of the digestive system	2563	GABRD	ORPHA:1606
HP:0025031	Abnormality of the digestive system	23013	SPEN	ORPHA:1606
HP:0025031	Abnormality of the digestive system	8510	MMP23B	ORPHA:1606
HP:0025031	Abnormality of the digestive system	7798	LUZP1	ORPHA:1606
HP:0025031	Abnormality of the digestive system	6497	SKI	ORPHA:1606
HP:0025031	Abnormality of the digestive system	10630	PDPN	ORPHA:1606
HP:0025031	Abnormality of the digestive system	3339	HSPG2	ORPHA:1606
HP:0025031	Abnormality of the digestive system	10277	UBE4B	ORPHA:1606
HP:0025031	Abnormality of the digestive system	8514	KCNAB2	ORPHA:1606
HP:0025031	Abnormality of the digestive system	473	RERE	ORPHA:1606
HP:0025031	Abnormality of the digestive system	63976	PRDM16	ORPHA:1606
HP:0025031	Abnormality of the digestive system	54897	CASZ1	ORPHA:1606
HP:0025031	Abnormality of the digestive system	81031	SLC2A10	ORPHA:3342
HP:0025031	Abnormality of the digestive system	4534	MTM1	OMIM:310400
HP:0025031	Abnormality of the digestive system	6928	HNF1B	ORPHA:93111
HP:0025031	Abnormality of the digestive system	9839	ZEB2	OMIM:235730
HP:0025031	Abnormality of the digestive system	9839	ZEB2	ORPHA:261537
HP:0025031	Abnormality of the digestive system	9839	ZEB2	ORPHA:261552
HP:0025031	Abnormality of the digestive system	274	BIN1	ORPHA:169189
HP:0025031	Abnormality of the digestive system	64419	MTMR14	ORPHA:169189
HP:0025031	Abnormality of the digestive system	4618	MYF6	ORPHA:169189
HP:0025031	Abnormality of the digestive system	1785	DNM2	ORPHA:169189
HP:0025031	Abnormality of the digestive system	6261	RYR1	ORPHA:169189
HP:0025031	Abnormality of the digestive system	80781	COL18A1	OMIM:267750
HP:0025031	Abnormality of the digestive system	80781	COL18A1	ORPHA:1571
HP:0025031	Abnormality of the digestive system	388015	RTL1	ORPHA:96184
HP:0025031	Abnormality of the digestive system	8788	DLK1	ORPHA:96184
HP:0025031	Abnormality of the digestive system	55384	MEG3	ORPHA:96184
HP:0025031	Abnormality of the digestive system	5009	OTC	ORPHA:664
HP:0025031	Abnormality of the digestive system	374879	ZNF699	OMIM:619488
HP:0025031	Abnormality of the digestive system	613	BCR	ORPHA:261330
HP:0025031	Abnormality of the digestive system	1399	CRKL	ORPHA:261330
HP:0025031	Abnormality of the digestive system	5594	MAPK1	ORPHA:261330
HP:0025031	Abnormality of the digestive system	1723	DHODH	OMIM:263750
HP:0025031	Abnormality of the digestive system	5831	PYCR1	OMIM:614438
HP:0025031	Abnormality of the digestive system	1717	DHCR7	ORPHA:818
HP:0025031	Abnormality of the digestive system	1717	DHCR7	OMIM:270400
HP:0025031	Abnormality of the digestive system	4868	NPHS1	OMIM:256300
HP:0025031	Abnormality of the digestive system	63895	PIEZO2	OMIM:248700
HP:0025031	Abnormality of the digestive system	63895	PIEZO2	ORPHA:2461
HP:0025031	Abnormality of the digestive system	4784	NFIX	OMIM:602535
HP:0025031	Abnormality of the digestive system	5528	PPP2R5D	ORPHA:457279
HP:0025031	Abnormality of the digestive system	5528	PPP2R5D	OMIM:616355
HP:0025031	Abnormality of the digestive system	4052	LTBP1	ORPHA:90349
HP:0025031	Abnormality of the digestive system	30008	EFEMP2	ORPHA:90349
HP:0025031	Abnormality of the digestive system	10516	FBLN5	ORPHA:90349
HP:0025031	Abnormality of the digestive system	284058	KANSL1	OMIM:610443
HP:0025031	Abnormality of the digestive system	9896	FIG4	OMIM:216340
HP:0025031	Abnormality of the digestive system	9896	FIG4	ORPHA:3472
HP:0025031	Abnormality of the digestive system	7020	TFAP2A	OMIM:113620
HP:0025031	Abnormality of the digestive system	3914	LAMB3	OMIM:226700
HP:0025031	Abnormality of the digestive system	3909	LAMA3	OMIM:226700
HP:0025031	Abnormality of the digestive system	3918	LAMC2	OMIM:226700
HP:0025031	Abnormality of the digestive system	55697	VAC14	ORPHA:3472
HP:0025031	Abnormality of the digestive system	404672	GTF2H5	OMIM:616395
HP:0025031	Abnormality of the digestive system	25970	SH2B1	ORPHA:261197
HP:0025031	Abnormality of the digestive system	127833	SYT2	OMIM:619461
HP:0025031	Abnormality of the digestive system	529	ATP6V1E1	OMIM:617402
HP:0025031	Abnormality of the digestive system	5062	PAK2	OMIM:618458
HP:0025031	Abnormality of the digestive system	5062	PAK2	ORPHA:1571
HP:0025031	Abnormality of the digestive system	284119	CAVIN1	OMIM:613327
HP:0025031	Abnormality of the digestive system	3265	HRAS	OMIM:218040
HP:0025031	Abnormality of the digestive system	871	SERPINH1	OMIM:613848
HP:0025031	Abnormality of the digestive system	2313	FLI1	ORPHA:2308
HP:0025031	Abnormality of the digestive system	2737	GLI3	ORPHA:672
HP:0025031	Abnormality of the digestive system	2737	GLI3	OMIM:146510
HP:0025031	Abnormality of the digestive system	9361	LONP1	OMIM:600373
HP:0025031	Abnormality of the digestive system	2294	FOXF1	OMIM:265380
HP:0025031	Abnormality of the digestive system	2294	FOXF1	ORPHA:210122
HP:0025031	Abnormality of the digestive system	117581	TWIST2	OMIM:227260
HP:0025031	Abnormality of the digestive system	117581	TWIST2	ORPHA:1807
HP:0025031	Abnormality of the digestive system	8195	MKKS	OMIM:236700
HP:0025031	Abnormality of the digestive system	8195	MKKS	ORPHA:2473
HP:0025031	Abnormality of the digestive system	145173	B3GLCT	ORPHA:709
HP:0025031	Abnormality of the digestive system	6650	CAPN15	OMIM:619318
HP:0025031	Abnormality of the digestive system	1131	CHRM3	ORPHA:2970
HP:0025031	Abnormality of the digestive system	1131	CHRM3	OMIM:100100
HP:0025031	Abnormality of the digestive system	7473	WNT3	ORPHA:3301
HP:0025031	Abnormality of the digestive system	7473	WNT3	OMIM:273395
HP:0025031	Abnormality of the digestive system	340419	RSPO2	ORPHA:3301
HP:0025031	Abnormality of the digestive system	81839	VANGL1	ORPHA:3027
HP:0025031	Abnormality of the digestive system	80199	FUZ	ORPHA:3027
HP:0025031	Abnormality of the digestive system	10084	PQBP1	ORPHA:93950
HP:0025031	Abnormality of the digestive system	10084	PQBP1	OMIM:309500
HP:0025031	Abnormality of the digestive system	197131	UBR1	OMIM:243800
HP:0025031	Abnormality of the digestive system	197131	UBR1	ORPHA:2315
HP:0025031	Abnormality of the digestive system	267010	RNU12	OMIM:603116
HP:0025031	Abnormality of the digestive system	55112	DYNC2I1	ORPHA:93271
HP:0025031	Abnormality of the digestive system	57560	IFT80	ORPHA:93271
HP:0025031	Abnormality of the digestive system	57539	WDR35	ORPHA:93271
HP:0025031	Abnormality of the digestive system	79659	DYNC2H1	ORPHA:93271
HP:0025031	Abnormality of the digestive system	79659	DYNC2H1	OMIM:613091
HP:0025031	Abnormality of the digestive system	89891	DYNC2I2	ORPHA:93271
HP:0025031	Abnormality of the digestive system	4281	MID1	OMIM:300000
HP:0025031	Abnormality of the digestive system	4281	MID1	ORPHA:2745
HP:0025031	Abnormality of the digestive system	374654	KIF7	OMIM:200990
HP:0025031	Abnormality of the digestive system	2623	GATA1	OMIM:190685
HP:0025031	Abnormality of the digestive system	3313	HSPA9	OMIM:616854
HP:0025031	Abnormality of the digestive system	2137	EXTL3	OMIM:617425
HP:0025031	Abnormality of the digestive system	999	CDH1	OMIM:119580
HP:0025031	Abnormality of the digestive system	999	CDH1	ORPHA:1997
HP:0025031	Abnormality of the digestive system	29954	POMT2	OMIM:236670
HP:0025031	Abnormality of the digestive system	9215	LARGE1	OMIM:236670
HP:0025031	Abnormality of the digestive system	79147	FKRP	OMIM:236670
HP:0025031	Abnormality of the digestive system	10585	POMT1	OMIM:236670
HP:0025031	Abnormality of the digestive system	2218	FKTN	OMIM:236670
HP:0025031	Abnormality of the digestive system	2187	FANCB	ORPHA:3412
HP:0025031	Abnormality of the digestive system	2187	FANCB	ORPHA:84
HP:0025031	Abnormality of the digestive system	2187	FANCB	OMIM:314390
HP:0025031	Abnormality of the digestive system	1500	CTNND1	ORPHA:1997
HP:0025031	Abnormality of the digestive system	7547	ZIC3	OMIM:306955
HP:0025031	Abnormality of the digestive system	7547	ZIC3	OMIM:314390
HP:0025031	Abnormality of the digestive system	4072	EPCAM	ORPHA:92050
HP:0025031	Abnormality of the digestive system	105371045	PERCC1	ORPHA:92050
HP:0025031	Abnormality of the digestive system	2263	FGFR2	ORPHA:93260
HP:0025031	Abnormality of the digestive system	2263	FGFR2	ORPHA:93259
HP:0025031	Abnormality of the digestive system	9401	RECQL4	ORPHA:1225
HP:0025031	Abnormality of the digestive system	9401	RECQL4	OMIM:218600
HP:0025031	Abnormality of the digestive system	672	BRCA1	ORPHA:84
HP:0025031	Abnormality of the digestive system	10459	MAD2L2	ORPHA:84
HP:0025031	Abnormality of the digestive system	7516	XRCC2	ORPHA:84
HP:0025031	Abnormality of the digestive system	29089	UBE2T	ORPHA:84
HP:0025031	Abnormality of the digestive system	675	BRCA2	ORPHA:84
HP:0025031	Abnormality of the digestive system	675	BRCA2	OMIM:605724
HP:0025031	Abnormality of the digestive system	55120	FANCL	ORPHA:84
HP:0025031	Abnormality of the digestive system	55120	FANCL	OMIM:614083
HP:0025031	Abnormality of the digestive system	2177	FANCD2	ORPHA:84
HP:0025031	Abnormality of the digestive system	2175	FANCA	ORPHA:84
HP:0025031	Abnormality of the digestive system	2176	FANCC	ORPHA:84
HP:0025031	Abnormality of the digestive system	2178	FANCE	ORPHA:84
HP:0025031	Abnormality of the digestive system	2188	FANCF	ORPHA:84
HP:0025031	Abnormality of the digestive system	2189	FANCG	ORPHA:84
HP:0025031	Abnormality of the digestive system	5888	RAD51	ORPHA:84
HP:0025031	Abnormality of the digestive system	5888	RAD51	OMIM:617244
HP:0025031	Abnormality of the digestive system	55159	RFWD3	ORPHA:84
HP:0025031	Abnormality of the digestive system	83990	BRIP1	ORPHA:84
HP:0025031	Abnormality of the digestive system	57697	FANCM	ORPHA:84
HP:0025031	Abnormality of the digestive system	79728	PALB2	ORPHA:84
HP:0025031	Abnormality of the digestive system	84464	SLX4	ORPHA:84
HP:0025031	Abnormality of the digestive system	2072	ERCC4	ORPHA:84
HP:0025031	Abnormality of the digestive system	55215	FANCI	ORPHA:84
HP:0025031	Abnormality of the digestive system	1312	COMT	ORPHA:567
HP:0025031	Abnormality of the digestive system	221037	JMJD1C	ORPHA:567
HP:0025031	Abnormality of the digestive system	2812	GP1BB	ORPHA:567
HP:0025031	Abnormality of the digestive system	6239	RREB1	ORPHA:567
HP:0025031	Abnormality of the digestive system	6899	TBX1	ORPHA:567
HP:0025031	Abnormality of the digestive system	7290	HIRA	ORPHA:567
HP:0025031	Abnormality of the digestive system	9632	SEC24C	ORPHA:567
HP:0025031	Abnormality of the digestive system	7353	UFD1	ORPHA:567
HP:0025031	Abnormality of the digestive system	421	ARVCF	ORPHA:567
HP:0025031	Abnormality of the digestive system	25942	SIN3A	ORPHA:94065
HP:0025031	Abnormality of the digestive system	25	ABL1	OMIM:617602
HP:0025031	Abnormality of the digestive system	23065	EMC1	OMIM:616875
HP:0025031	Abnormality of the digestive system	23065	EMC1	ORPHA:480898
HP:0025031	Abnormality of the digestive system	55012	PPP2R3C	OMIM:618419
HP:0025031	Abnormality of the digestive system	23495	TNFRSF13B	ORPHA:1572
HP:0025031	Abnormality of the digestive system	4790	NFKB1	ORPHA:1572
HP:0025031	Abnormality of the digestive system	4791	NFKB2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	115650	TNFRSF13C	ORPHA:1572
HP:0025031	Abnormality of the digestive system	1380	CR2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	8742	TNFSF12	ORPHA:1572
HP:0025031	Abnormality of the digestive system	5580	PRKCD	ORPHA:1572
HP:0025031	Abnormality of the digestive system	930	CD19	ORPHA:1572
HP:0025031	Abnormality of the digestive system	29851	ICOS	ORPHA:1572
HP:0025031	Abnormality of the digestive system	931	MS4A1	ORPHA:1572
HP:0025031	Abnormality of the digestive system	975	CD81	ORPHA:1572
HP:0025031	Abnormality of the digestive system	359948	IRF2BP2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	10046	MAMLD1	ORPHA:95706
HP:0025031	Abnormality of the digestive system	367	AR	ORPHA:95706
HP:0025031	Abnormality of the digestive system	6862	TBXT	OMIM:615709
HP:0025031	Abnormality of the digestive system	4613	MYCN	ORPHA:391641
HP:0025031	Abnormality of the digestive system	8260	NAA10	OMIM:309800
HP:0025031	Abnormality of the digestive system	54880	BCOR	OMIM:309800
HP:0025031	Abnormality of the digestive system	1349	COX7B	OMIM:309801
HP:0025031	Abnormality of the digestive system	3052	HCCS	OMIM:309801
HP:0025031	Abnormality of the digestive system	54539	NDUFB11	OMIM:309801
HP:0025031	Abnormality of the digestive system	55773	TBC1D23	OMIM:617695
HP:0025031	Abnormality of the digestive system	92002	CCNQ	OMIM:300707
HP:0025031	Abnormality of the digestive system	92002	CCNQ	ORPHA:140952
HP:0025031	Abnormality of the digestive system	8239	USP9X	ORPHA:480880
HP:0025031	Abnormality of the digestive system	8239	USP9X	OMIM:300968
HP:0025031	Abnormality of the digestive system	10653	SPINT2	OMIM:270420
HP:0025031	Abnormality of the digestive system	79228	THOC6	ORPHA:363444
HP:0025031	Abnormality of the digestive system	79813	EHMT1	ORPHA:261652
HP:0025031	Abnormality of the digestive system	58508	KMT2C	ORPHA:261652
HP:0025031	Abnormality of the digestive system	51339	DACT1	OMIM:617466
HP:0025031	Abnormality of the digestive system	51339	DACT1	ORPHA:857
HP:0025031	Abnormality of the digestive system	51339	DACT1	ORPHA:63260
HP:0025031	Abnormality of the digestive system	23112	TNRC6B	OMIM:619243
HP:0025031	Abnormality of the digestive system	7291	TWIST1	OMIM:617746
HP:0025031	Abnormality of the digestive system	9897	WASHC5	OMIM:220210
HP:0025031	Abnormality of the digestive system	9897	WASHC5	ORPHA:7
HP:0025031	Abnormality of the digestive system	153241	CEP120	OMIM:616300
HP:0025031	Abnormality of the digestive system	7476	WNT7A	ORPHA:2879
HP:0025031	Abnormality of the digestive system	1807	DPYS	OMIM:222748
HP:0025031	Abnormality of the digestive system	3239	HOXD13	ORPHA:887
HP:0025031	Abnormality of the digestive system	28952	CCDC22	ORPHA:7
HP:0025031	Abnormality of the digestive system	51733	UPB1	OMIM:613161
HP:0025031	Abnormality of the digestive system	54903	MKS1	OMIM:249000
HP:0025031	Abnormality of the digestive system	9573	GDF3	ORPHA:2345
HP:0025031	Abnormality of the digestive system	392255	GDF6	ORPHA:2345
HP:0025031	Abnormality of the digestive system	4222	MEOX1	ORPHA:2345
HP:0025031	Abnormality of the digestive system	27152	INTU	OMIM:617925
HP:0025031	Abnormality of the digestive system	2719	GPC3	OMIM:312870
HP:0025031	Abnormality of the digestive system	2239	GPC4	OMIM:312870
HP:0025031	Abnormality of the digestive system	171023	ASXL1	ORPHA:98850
HP:0025031	Abnormality of the digestive system	54790	TET2	ORPHA:98850
HP:0025031	Abnormality of the digestive system	867	CBL	ORPHA:98850
HP:0025031	Abnormality of the digestive system	861	RUNX1	ORPHA:98850
HP:0025031	Abnormality of the digestive system	6427	SRSF2	ORPHA:98850
HP:0025031	Abnormality of the digestive system	118429	ANTXR2	ORPHA:2176
HP:0025031	Abnormality of the digestive system	7518	XRCC4	ORPHA:99812
HP:0025031	Abnormality of the digestive system	80270	HSD3B7	ORPHA:79301
HP:0025031	Abnormality of the digestive system	2316	FLNA	ORPHA:99811
HP:0025031	Abnormality of the digestive system	4292	MLH1	ORPHA:144
HP:0025031	Abnormality of the digestive system	5395	PMS2	ORPHA:144
HP:0025031	Abnormality of the digestive system	27030	MLH3	ORPHA:144
HP:0025031	Abnormality of the digestive system	22909	FAN1	ORPHA:144
HP:0025031	Abnormality of the digestive system	7048	TGFBR2	ORPHA:144
HP:0025031	Abnormality of the digestive system	3845	KRAS	ORPHA:144
HP:0025031	Abnormality of the digestive system	5290	PIK3CA	ORPHA:144
HP:0025031	Abnormality of the digestive system	2956	MSH6	ORPHA:144
HP:0025031	Abnormality of the digestive system	5378	PMS1	ORPHA:144
HP:0025031	Abnormality of the digestive system	4436	MSH2	ORPHA:144
HP:0025031	Abnormality of the digestive system	55630	SLC39A4	ORPHA:37
HP:0025031	Abnormality of the digestive system	6514	SLC2A2	OMIM:227810
HP:0025031	Abnormality of the digestive system	50674	NEUROG3	ORPHA:83620
HP:0025031	Abnormality of the digestive system	64218	SEMA4A	ORPHA:440437
HP:0025031	Abnormality of the digestive system	657	BMPR1A	ORPHA:440437
HP:0025031	Abnormality of the digestive system	6224	RPS20	ORPHA:440437
HP:0025031	Abnormality of the digestive system	10525	HYOU1	OMIM:233600
HP:0025031	Abnormality of the digestive system	4952	OCRL	ORPHA:534
HP:0025031	Abnormality of the digestive system	1536	CYBB	ORPHA:379
HP:0025031	Abnormality of the digestive system	4688	NCF2	ORPHA:379
HP:0025031	Abnormality of the digestive system	1535	CYBA	ORPHA:379
HP:0025031	Abnormality of the digestive system	4689	NCF4	ORPHA:379
HP:0025031	Abnormality of the digestive system	653361	NCF1	ORPHA:379
HP:0025031	Abnormality of the digestive system	653361	NCF1	ORPHA:904
HP:0025031	Abnormality of the digestive system	79415	CYBC1	ORPHA:379
HP:0025031	Abnormality of the digestive system	170302	ARX	ORPHA:452
HP:0025031	Abnormality of the digestive system	9663	LPIN2	ORPHA:77297
HP:0025031	Abnormality of the digestive system	2717	GLA	ORPHA:324
HP:0025031	Abnormality of the digestive system	3248	HPGD	ORPHA:2796
HP:0025031	Abnormality of the digestive system	6578	SLCO2A1	ORPHA:2796
HP:0025031	Abnormality of the digestive system	538	ATP7A	ORPHA:565
HP:0025031	Abnormality of the digestive system	2068	ERCC2	OMIM:601675
HP:0025031	Abnormality of the digestive system	3070	HELLS	ORPHA:2268
HP:0025031	Abnormality of the digestive system	1789	DNMT3B	ORPHA:2268
HP:0025031	Abnormality of the digestive system	1789	DNMT3B	OMIM:242860
HP:0025031	Abnormality of the digestive system	83879	CDCA7	ORPHA:2268
HP:0025031	Abnormality of the digestive system	9841	ZBTB24	ORPHA:2268
HP:0025031	Abnormality of the digestive system	113235	SLC46A1	OMIM:229050
HP:0025031	Abnormality of the digestive system	175	AGA	ORPHA:93
HP:0025031	Abnormality of the digestive system	1499	CTNNB1	ORPHA:873
HP:0025031	Abnormality of the digestive system	324	APC	ORPHA:873
HP:0025031	Abnormality of the digestive system	30011	SH3KBP1	OMIM:300310
HP:0025031	Abnormality of the digestive system	4261	CIITA	OMIM:209920
HP:0025031	Abnormality of the digestive system	5994	RFXAP	OMIM:209920
HP:0025031	Abnormality of the digestive system	5993	RFX5	OMIM:209920
HP:0025031	Abnormality of the digestive system	8625	RFXANK	OMIM:209920
HP:0025031	Abnormality of the digestive system	222546	RFX6	OMIM:615710
HP:0025031	Abnormality of the digestive system	9508	ADAMTS3	ORPHA:2136
HP:0025031	Abnormality of the digestive system	147372	CCBE1	ORPHA:2136
HP:0025031	Abnormality of the digestive system	6804	STX1A	ORPHA:904
HP:0025031	Abnormality of the digestive system	6804	STX1A	ORPHA:586
HP:0025031	Abnormality of the digestive system	7461	CLIP2	ORPHA:904
HP:0025031	Abnormality of the digestive system	84277	DNAJC30	ORPHA:904
HP:0025031	Abnormality of the digestive system	8468	FKBP6	ORPHA:904
HP:0025031	Abnormality of the digestive system	5982	RFC2	ORPHA:904
HP:0025031	Abnormality of the digestive system	2969	GTF2I	ORPHA:904
HP:0025031	Abnormality of the digestive system	3984	LIMK1	ORPHA:904
HP:0025031	Abnormality of the digestive system	9569	GTF2IRD1	ORPHA:904
HP:0025031	Abnormality of the digestive system	155382	VPS37D	ORPHA:904
HP:0025031	Abnormality of the digestive system	155368	METTL27	ORPHA:904
HP:0025031	Abnormality of the digestive system	114049	BUD23	ORPHA:904
HP:0025031	Abnormality of the digestive system	7458	EIF4H	ORPHA:904
HP:0025031	Abnormality of the digestive system	84163	GTF2IRD2	ORPHA:904
HP:0025031	Abnormality of the digestive system	9275	BCL7B	ORPHA:904
HP:0025031	Abnormality of the digestive system	26608	TBL2	ORPHA:904
HP:0025031	Abnormality of the digestive system	135886	TMEM270	ORPHA:904
HP:0025031	Abnormality of the digestive system	51085	MLXIPL	ORPHA:904
HP:0025031	Abnormality of the digestive system	9031	BAZ1B	ORPHA:904
HP:0025031	Abnormality of the digestive system	2006	ELN	ORPHA:904
HP:0025031	Abnormality of the digestive system	1890	TYMP	OMIM:603041
HP:0025031	Abnormality of the digestive system	5428	POLG	OMIM:603041
HP:0025031	Abnormality of the digestive system	5428	POLG	OMIM:613662
HP:0025031	Abnormality of the digestive system	493856	CISD2	ORPHA:3463
HP:0025031	Abnormality of the digestive system	7466	WFS1	ORPHA:3463
HP:0025031	Abnormality of the digestive system	4567	MT-TL1	ORPHA:225
HP:0025031	Abnormality of the digestive system	4556	MT-TE	ORPHA:225
HP:0025031	Abnormality of the digestive system	4566	MT-TK	ORPHA:225
HP:0025031	Abnormality of the digestive system	6523	SLC5A1	OMIM:606824
HP:0025031	Abnormality of the digestive system	4210	MEFV	ORPHA:342
HP:0025031	Abnormality of the digestive system	4210	MEFV	ORPHA:117
HP:0025031	Abnormality of the digestive system	2947	GSTM3	ORPHA:586
HP:0025031	Abnormality of the digestive system	7040	TGFB1	ORPHA:586
HP:0025031	Abnormality of the digestive system	2729	GCLC	ORPHA:586
HP:0025031	Abnormality of the digestive system	1084	CEACAM3	ORPHA:586
HP:0025031	Abnormality of the digestive system	6556	SLC11A1	ORPHA:586
HP:0025031	Abnormality of the digestive system	51164	DCTN4	ORPHA:586
HP:0025031	Abnormality of the digestive system	3783	KCNN4	ORPHA:586
HP:0025031	Abnormality of the digestive system	4282	MIF	ORPHA:586
HP:0025031	Abnormality of the digestive system	1909	EDNRA	ORPHA:586
HP:0025031	Abnormality of the digestive system	6550	SLC9A3	ORPHA:586
HP:0025031	Abnormality of the digestive system	3162	HMOX1	ORPHA:586
HP:0025031	Abnormality of the digestive system	115019	SLC26A9	ORPHA:586
HP:0025031	Abnormality of the digestive system	3077	HFE	ORPHA:586
HP:0025031	Abnormality of the digestive system	11254	SLC6A14	ORPHA:586
HP:0025031	Abnormality of the digestive system	5265	SERPINA1	ORPHA:586
HP:0025031	Abnormality of the digestive system	1080	CFTR	ORPHA:586
HP:0025031	Abnormality of the digestive system	22802	CLCA4	ORPHA:586
HP:0025031	Abnormality of the digestive system	4680	CEACAM6	ORPHA:586
HP:0025031	Abnormality of the digestive system	5244	ABCB4	OMIM:602347
HP:0025031	Abnormality of the digestive system	8567	MADD	OMIM:619004
HP:0025031	Abnormality of the digestive system	6288	SAA1	ORPHA:85445
HP:0025031	Abnormality of the digestive system	57570	TRMT5	OMIM:616539
HP:0025031	Abnormality of the digestive system	3662	IRF4	ORPHA:3452
HP:0025031	Abnormality of the digestive system	695	BTK	ORPHA:47
HP:0025031	Abnormality of the digestive system	811	CALR	ORPHA:131
HP:0025031	Abnormality of the digestive system	3717	JAK2	ORPHA:131
HP:0025031	Abnormality of the digestive system	2153	F5	ORPHA:131
HP:0025031	Abnormality of the digestive system	5122	PCSK1	OMIM:600955
HP:0025031	Abnormality of the digestive system	326	AIRE	OMIM:240300
HP:0025031	Abnormality of the digestive system	1758	DMP1	ORPHA:289176
HP:0025031	Abnormality of the digestive system	5167	ENPP1	ORPHA:289176
HP:0025031	Abnormality of the digestive system	340024	SLC6A19	ORPHA:2116
HP:0025031	Abnormality of the digestive system	57393	CLTRN	ORPHA:2116
HP:0025031	Abnormality of the digestive system	50943	FOXP3	ORPHA:37042
HP:0025031	Abnormality of the digestive system	11181	TREH	ORPHA:103909
HP:0025031	Abnormality of the digestive system	6476	SI	OMIM:222900
HP:0025031	Abnormality of the digestive system	4615	MYD88	ORPHA:33226
HP:0025031	Abnormality of the digestive system	1604	CD55	OMIM:226300
HP:0025031	Abnormality of the digestive system	80169	CTC1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	26277	TINF2	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55651	NHP2	ORPHA:1775
HP:0025031	Abnormality of the digestive system	79650	USB1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55135	WRAP53	ORPHA:1775
HP:0025031	Abnormality of the digestive system	51750	RTEL1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	4869	NPM1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7012	TERC	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55505	NOP10	ORPHA:1775
HP:0025031	Abnormality of the digestive system	5073	PARN	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7015	TERT	ORPHA:1775
HP:0025031	Abnormality of the digestive system	1736	DKC1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7298	TYMS	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55315	SLC29A3	ORPHA:168569
HP:0025031	Abnormality of the digestive system	1235	CCR6	ORPHA:220393
HP:0025031	Abnormality of the digestive system	1490	CCN2	ORPHA:220393
HP:0025031	Abnormality of the digestive system	3663	IRF5	ORPHA:220393
HP:0025031	Abnormality of the digestive system	857	CAV1	ORPHA:220393
HP:0025031	Abnormality of the digestive system	3123	HLA-DRB1	ORPHA:220393
HP:0025031	Abnormality of the digestive system	1828	DSG1	OMIM:615508
HP:0025031	Abnormality of the digestive system	55670	PEX26	ORPHA:912
HP:0025031	Abnormality of the digestive system	5824	PEX19	ORPHA:912
HP:0025031	Abnormality of the digestive system	5828	PEX2	ORPHA:912
HP:0025031	Abnormality of the digestive system	8504	PEX3	ORPHA:912
HP:0025031	Abnormality of the digestive system	8799	PEX11B	ORPHA:912
HP:0025031	Abnormality of the digestive system	9409	PEX16	ORPHA:912
HP:0025031	Abnormality of the digestive system	5190	PEX6	ORPHA:912
HP:0025031	Abnormality of the digestive system	5830	PEX5	ORPHA:912
HP:0025031	Abnormality of the digestive system	5189	PEX1	ORPHA:912
HP:0025031	Abnormality of the digestive system	5193	PEX12	ORPHA:912
HP:0025031	Abnormality of the digestive system	5194	PEX13	ORPHA:912
HP:0025031	Abnormality of the digestive system	5195	PEX14	ORPHA:912
HP:0025031	Abnormality of the digestive system	5192	PEX10	ORPHA:912
HP:0025031	Abnormality of the digestive system	204	AK2	ORPHA:33355
HP:0025031	Abnormality of the digestive system	6929	TCF3	ORPHA:33110
HP:0025031	Abnormality of the digestive system	973	CD79A	ORPHA:33110
HP:0025031	Abnormality of the digestive system	974	CD79B	ORPHA:33110
HP:0025031	Abnormality of the digestive system	3543	IGLL1	ORPHA:33110
HP:0025031	Abnormality of the digestive system	3507	IGHM	ORPHA:33110
HP:0025031	Abnormality of the digestive system	29760	BLNK	ORPHA:33110
HP:0025031	Abnormality of the digestive system	5295	PIK3R1	ORPHA:33110
HP:0025031	Abnormality of the digestive system	56262	LRRC8A	ORPHA:33110
HP:0025031	Abnormality of the digestive system	149233	IL23R	ORPHA:117
HP:0025031	Abnormality of the digestive system	6775	STAT4	ORPHA:117
HP:0025031	Abnormality of the digestive system	3586	IL10	ORPHA:117
HP:0025031	Abnormality of the digestive system	1230	CCR1	ORPHA:117
HP:0025031	Abnormality of the digestive system	355	FAS	ORPHA:117
HP:0025031	Abnormality of the digestive system	3592	IL12A	ORPHA:117
HP:0025031	Abnormality of the digestive system	101928376	IL12A-AS1	ORPHA:117
HP:0025031	Abnormality of the digestive system	3106	HLA-B	ORPHA:117
HP:0025031	Abnormality of the digestive system	7099	TLR4	ORPHA:117
HP:0025031	Abnormality of the digestive system	3459	IFNGR1	ORPHA:117
HP:0025031	Abnormality of the digestive system	720	C4A	ORPHA:117
HP:0025031	Abnormality of the digestive system	337867	UBAC2	ORPHA:117
HP:0025031	Abnormality of the digestive system	51752	ERAP1	ORPHA:117
HP:0025031	Abnormality of the digestive system	8302	KLRC4	ORPHA:117
HP:0025031	Abnormality of the digestive system	11005	SPINK5	ORPHA:634
HP:0025031	Abnormality of the digestive system	139285	AMER1	OMIM:300373
HP:0025031	Abnormality of the digestive system	3981	LIG4	ORPHA:235
HP:0025031	Abnormality of the digestive system	54888	NSUN2	ORPHA:235
HP:0025031	Abnormality of the digestive system	23556	PIGN	OMIM:614080
HP:0025031	Abnormality of the digestive system	23556	PIGN	ORPHA:280633
HP:0025031	Abnormality of the digestive system	80144	FRAS1	ORPHA:2052
HP:0025031	Abnormality of the digestive system	23426	GRIP1	ORPHA:2052
HP:0025031	Abnormality of the digestive system	6628	SNRPB	OMIM:117650
HP:0025031	Abnormality of the digestive system	6608	SMO	OMIM:601707
HP:0025031	Abnormality of the digestive system	4683	NBN	OMIM:251260
HP:0025031	Abnormality of the digestive system	4683	NBN	ORPHA:647
HP:0025031	Abnormality of the digestive system	23522	KAT6B	OMIM:606170
HP:0025031	Abnormality of the digestive system	6023	RMRP	OMIM:250250
HP:0025031	Abnormality of the digestive system	775	CACNA1C	OMIM:620029
HP:0025031	Abnormality of the digestive system	27315	PGAP2	OMIM:614207
HP:0025031	Abnormality of the digestive system	158326	FREM1	ORPHA:2717
HP:0025031	Abnormality of the digestive system	158326	FREM1	ORPHA:217266
HP:0025031	Abnormality of the digestive system	158326	FREM1	OMIM:248450
HP:0025031	Abnormality of the digestive system	84720	PIGO	OMIM:614749
HP:0025031	Abnormality of the digestive system	5308	PITX2	OMIM:180500
HP:0025031	Abnormality of the digestive system	5308	PITX2	ORPHA:782
HP:0025031	Abnormality of the digestive system	3110	MNX1	OMIM:176450
HP:0025031	Abnormality of the digestive system	57167	SALL4	OMIM:607323
HP:0025031	Abnormality of the digestive system	8626	TP63	OMIM:604292
HP:0025031	Abnormality of the digestive system	1009	CDH11	OMIM:211380
HP:0025031	Abnormality of the digestive system	2296	FOXC1	ORPHA:782
HP:0025031	Abnormality of the digestive system	6299	SALL1	OMIM:107480
HP:0025031	Abnormality of the digestive system	6926	TBX3	OMIM:181450
HP:0025031	Abnormality of the digestive system	8318	CDC45	OMIM:617063
HP:0025031	Abnormality of the digestive system	54101	RIPK4	OMIM:263650
HP:0025031	Abnormality of the digestive system	84667	HES7	OMIM:613686
HP:0025031	Abnormality of the digestive system	55612	FERMT1	OMIM:173650
HP:0025031	Abnormality of the digestive system	55636	CHD7	OMIM:214800
HP:0025031	Abnormality of the digestive system	79633	FAT4	ORPHA:314679
HP:0025031	Abnormality of the digestive system	8642	DCHS1	ORPHA:314679
HP:0025031	Abnormality of the digestive system	9968	MED12	OMIM:305450
HP:0025031	Abnormality of the digestive system	8085	KMT2D	OMIM:147920
HP:0025031	Abnormality of the digestive system	7403	KDM6A	OMIM:147920
HP:0025031	Abnormality of the digestive system	8974	P4HA2	ORPHA:397
HP:0025031	Abnormality of the digestive system	90268	OTULIN	OMIM:617099
HP:0025031	Abnormality of the digestive system	144811	LACC1	ORPHA:85414
HP:0025031	Abnormality of the digestive system	30061	SLC40A1	ORPHA:139491
HP:0025031	Abnormality of the digestive system	8573	CASK	OMIM:300908
HP:0025031	Abnormality of the digestive system	2539	G6PD	OMIM:300908
HP:0025031	Abnormality of the digestive system	4598	MVK	OMIM:260920
HP:0025031	Abnormality of the digestive system	4598	MVK	ORPHA:343
HP:0025031	Abnormality of the digestive system	26873	OPLAH	OMIM:260005
HP:0025031	Abnormality of the digestive system	2038	EPB42	ORPHA:822
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	ORPHA:822
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	ORPHA:3202
HP:0025031	Abnormality of the digestive system	6710	SPTB	ORPHA:822
HP:0025031	Abnormality of the digestive system	6710	SPTB	ORPHA:288
HP:0025031	Abnormality of the digestive system	6708	SPTA1	ORPHA:822
HP:0025031	Abnormality of the digestive system	6708	SPTA1	ORPHA:288
HP:0025031	Abnormality of the digestive system	286	ANK1	ORPHA:822
HP:0025031	Abnormality of the digestive system	4233	MET	ORPHA:33402
HP:0025031	Abnormality of the digestive system	10686	CLDN16	OMIM:248250
HP:0025031	Abnormality of the digestive system	2642	GCGR	OMIM:619290
HP:0025031	Abnormality of the digestive system	2642	GCGR	ORPHA:438274
HP:0025031	Abnormality of the digestive system	3043	HBB	OMIM:603903
HP:0025031	Abnormality of the digestive system	3043	HBB	ORPHA:251380
HP:0025031	Abnormality of the digestive system	3043	HBB	ORPHA:90039
HP:0025031	Abnormality of the digestive system	2859	GPR35	ORPHA:171
HP:0025031	Abnormality of the digestive system	10507	SEMA4D	ORPHA:171
HP:0025031	Abnormality of the digestive system	4485	MST1	ORPHA:171
HP:0025031	Abnormality of the digestive system	353	APRT	OMIM:614723
HP:0025031	Abnormality of the digestive system	4352	MPL	ORPHA:729
HP:0025031	Abnormality of the digestive system	9570	GOSR2	OMIM:620166
HP:0025031	Abnormality of the digestive system	84133	ZNRF3	ORPHA:1501
HP:0025031	Abnormality of the digestive system	2035	EPB41	ORPHA:288
HP:0025031	Abnormality of the digestive system	2995	GYPC	ORPHA:288
HP:0025031	Abnormality of the digestive system	2984	GUCY2C	OMIM:614616
HP:0025031	Abnormality of the digestive system	1244	ABCC2	ORPHA:234
HP:0025031	Abnormality of the digestive system	22900	CARD8	OMIM:619079
HP:0025031	Abnormality of the digestive system	2321	FLT1	ORPHA:275555
HP:0025031	Abnormality of the digestive system	219736	STOX1	ORPHA:275555
HP:0025031	Abnormality of the digestive system	10699	CORIN	ORPHA:275555
HP:0025031	Abnormality of the digestive system	8659	ALDH4A1	ORPHA:79101
HP:0025031	Abnormality of the digestive system	84992	PIGY	OMIM:616809
HP:0025031	Abnormality of the digestive system	5645	PRSS2	OMIM:167800
HP:0025031	Abnormality of the digestive system	5645	PRSS2	ORPHA:676
HP:0025031	Abnormality of the digestive system	5644	PRSS1	OMIM:167800
HP:0025031	Abnormality of the digestive system	5644	PRSS1	ORPHA:676
HP:0025031	Abnormality of the digestive system	5205	ATP8B1	ORPHA:69665
HP:0025031	Abnormality of the digestive system	8647	ABCB11	ORPHA:69665
HP:0025031	Abnormality of the digestive system	9971	NR1H4	ORPHA:69665
HP:0025031	Abnormality of the digestive system	1649	DDIT3	ORPHA:99967
HP:0025031	Abnormality of the digestive system	19	ABCA1	ORPHA:31150
HP:0025031	Abnormality of the digestive system	7234	TRU-TCA1-1	OMIM:620198
HP:0025031	Abnormality of the digestive system	654	BMP6	ORPHA:465508
HP:0025031	Abnormality of the digestive system	64241	ABCG8	OMIM:210250
HP:0025031	Abnormality of the digestive system	10312	TCIRG1	ORPHA:486
HP:0025031	Abnormality of the digestive system	1991	ELANE	ORPHA:486
HP:0025031	Abnormality of the digestive system	1991	ELANE	ORPHA:2686
HP:0025031	Abnormality of the digestive system	2672	GFI1	ORPHA:486
HP:0025031	Abnormality of the digestive system	6729	SRP54	ORPHA:486
HP:0025031	Abnormality of the digestive system	81570	CLPB	ORPHA:486
HP:0025031	Abnormality of the digestive system	165918	RNF168	ORPHA:420741
HP:0025031	Abnormality of the digestive system	950	SCARB2	ORPHA:77259
HP:0025031	Abnormality of the digestive system	2767	GNA11	ORPHA:428
HP:0025031	Abnormality of the digestive system	6696	SPP1	ORPHA:93552
HP:0025031	Abnormality of the digestive system	3654	IRAK1	ORPHA:93552
HP:0025031	Abnormality of the digestive system	2057	EPOR	ORPHA:90042
HP:0025031	Abnormality of the digestive system	53335	BCL11A	ORPHA:251380
HP:0025031	Abnormality of the digestive system	10661	KLF1	ORPHA:251380
HP:0025031	Abnormality of the digestive system	3047	HBG1	ORPHA:251380
HP:0025031	Abnormality of the digestive system	3048	HBG2	ORPHA:251380
HP:0025031	Abnormality of the digestive system	5774	PTPN3	ORPHA:70567
HP:0025031	Abnormality of the digestive system	7248	TSC1	ORPHA:538
HP:0025031	Abnormality of the digestive system	7249	TSC2	ORPHA:538
HP:0025031	Abnormality of the digestive system	5978	REST	ORPHA:654
HP:0025031	Abnormality of the digestive system	129563	DIS3L2	ORPHA:654
HP:0025031	Abnormality of the digestive system	10155	TRIM28	ORPHA:654
HP:0025031	Abnormality of the digestive system	11281	POU6F2	ORPHA:654
HP:0025031	Abnormality of the digestive system	283120	H19	ORPHA:654
HP:0025031	Abnormality of the digestive system	23607	CD2AP	ORPHA:656
HP:0025031	Abnormality of the digestive system	9688	NUP93	ORPHA:656
HP:0025031	Abnormality of the digestive system	4643	MYO1E	ORPHA:656
HP:0025031	Abnormality of the digestive system	64423	INF2	ORPHA:656
HP:0025031	Abnormality of the digestive system	26130	GAPVD1	ORPHA:656
HP:0025031	Abnormality of the digestive system	51479	ANKFY1	ORPHA:656
HP:0025031	Abnormality of the digestive system	54443	ANLN	ORPHA:656
HP:0025031	Abnormality of the digestive system	5800	PTPRO	ORPHA:656
HP:0025031	Abnormality of the digestive system	286204	CRB2	ORPHA:656
HP:0025031	Abnormality of the digestive system	23165	NUP205	ORPHA:656
HP:0025031	Abnormality of the digestive system	2013	EMP2	ORPHA:656
HP:0025031	Abnormality of the digestive system	79023	NUP37	ORPHA:656
HP:0025031	Abnormality of the digestive system	51196	PLCE1	ORPHA:656
HP:0025031	Abnormality of the digestive system	79902	NUP85	ORPHA:656
HP:0025031	Abnormality of the digestive system	1285	COL4A3	ORPHA:656
HP:0025031	Abnormality of the digestive system	396	ARHGDIA	ORPHA:656
HP:0025031	Abnormality of the digestive system	79934	COQ8B	ORPHA:656
HP:0025031	Abnormality of the digestive system	23279	NUP160	ORPHA:656
HP:0025031	Abnormality of the digestive system	9863	MAGI2	ORPHA:656
HP:0025031	Abnormality of the digestive system	81	ACTN4	ORPHA:656
HP:0025031	Abnormality of the digestive system	7225	TRPC6	ORPHA:656
HP:0025031	Abnormality of the digestive system	8542	APOL1	ORPHA:656
HP:0025031	Abnormality of the digestive system	54885	TBC1D8B	ORPHA:656
HP:0025031	Abnormality of the digestive system	7827	NPHS2	ORPHA:656
HP:0025031	Abnormality of the digestive system	83478	ARHGAP24	ORPHA:656
HP:0025031	Abnormality of the digestive system	23500	DAAM2	ORPHA:656
HP:0025031	Abnormality of the digestive system	5076	PAX2	ORPHA:656
HP:0025031	Abnormality of the digestive system	1357	CPA1	ORPHA:676
HP:0025031	Abnormality of the digestive system	650	BMP2	OMIM:235200
HP:0025031	Abnormality of the digestive system	54795	TRPM4	ORPHA:871
HP:0025031	Abnormality of the digestive system	6324	SCN1B	ORPHA:871
HP:0025031	Abnormality of the digestive system	1053	CEBPE	OMIM:260570
HP:0025031	Abnormality of the digestive system	1056	CEL	OMIM:609812
HP:0025031	Abnormality of the digestive system	64711	HS3ST6	OMIM:619367
HP:0025031	Abnormality of the digestive system	51816	ADA2	OMIM:615688
HP:0025031	Abnormality of the digestive system	91662	NLRP12	OMIM:611762
HP:0025031	Abnormality of the digestive system	5294	PIK3CG	OMIM:619802
HP:0025031	Abnormality of the digestive system	55898	UNC45A	OMIM:619377
HP:0025031	Abnormality of the digestive system	6850	SYK	OMIM:619381
HP:0025031	Abnormality of the digestive system	6774	STAT3	ORPHA:520
HP:0025031	Abnormality of the digestive system	5371	PML	ORPHA:520
HP:0025031	Abnormality of the digestive system	5914	RARA	ORPHA:520
HP:0025031	Abnormality of the digestive system	81608	FIP1L1	ORPHA:520
HP:0025031	Abnormality of the digestive system	64859	NABP1	ORPHA:520
HP:0025031	Abnormality of the digestive system	6777	STAT5B	ORPHA:520
HP:0025031	Abnormality of the digestive system	4926	NUMA1	ORPHA:520
HP:0025031	Abnormality of the digestive system	7704	ZBTB16	ORPHA:520
HP:0025031	Abnormality of the digestive system	79718	TBL1XR1	ORPHA:520
HP:0025031	Abnormality of the digestive system	115286	SLC25A26	OMIM:616794
HP:0025031	Abnormality of the digestive system	7388	UQCRH	OMIM:620137
HP:0025031	Abnormality of the digestive system	2693	GHSR	ORPHA:314811
HP:0025031	Abnormality of the digestive system	3689	ITGB2	OMIM:116920
HP:0025031	Abnormality of the digestive system	6555	SLC10A2	OMIM:613291
HP:0025031	Abnormality of the digestive system	3551	IKBKB	OMIM:615592
HP:0025031	Abnormality of the digestive system	79827	CLMP	OMIM:615237
HP:0025031	Abnormality of the digestive system	3718	JAK3	OMIM:600802
HP:0025031	Abnormality of the digestive system	3718	JAK3	ORPHA:35078
HP:0025031	Abnormality of the digestive system	3561	IL2RG	OMIM:300400
HP:0025031	Abnormality of the digestive system	3561	IL2RG	ORPHA:39041
HP:0025031	Abnormality of the digestive system	6809	STX3	OMIM:619446
HP:0025031	Abnormality of the digestive system	23149	FCHO1	OMIM:619164
HP:0025031	Abnormality of the digestive system	4792	NFKBIA	OMIM:612132
HP:0025031	Abnormality of the digestive system	841	CASP8	OMIM:607271
HP:0025031	Abnormality of the digestive system	472	ATM	OMIM:208900
HP:0025031	Abnormality of the digestive system	427	ASAH1	ORPHA:333
HP:0025031	Abnormality of the digestive system	7037	TFRC	OMIM:616740
HP:0025031	Abnormality of the digestive system	537	ATP6AP1	OMIM:300972
HP:0025031	Abnormality of the digestive system	84876	ORAI1	OMIM:612782
HP:0025031	Abnormality of the digestive system	1777	DNASE2	OMIM:619858
HP:0025031	Abnormality of the digestive system	3423	IDS	ORPHA:217085
HP:0025031	Abnormality of the digestive system	3423	IDS	ORPHA:217093
HP:0025031	Abnormality of the digestive system	26007	TKFC	OMIM:618805
HP:0025031	Abnormality of the digestive system	6499	SKIC2	OMIM:614602
HP:0025031	Abnormality of the digestive system	3572	IL6ST	OMIM:618523
HP:0025031	Abnormality of the digestive system	4547	MTTP	ORPHA:14
HP:0025031	Abnormality of the digestive system	146206	CARMIL2	OMIM:618131
HP:0025031	Abnormality of the digestive system	25839	COG4	OMIM:613489
HP:0025031	Abnormality of the digestive system	10043	TOM1	OMIM:619510
HP:0025031	Abnormality of the digestive system	7737	RNF113A	OMIM:300953
HP:0025031	Abnormality of the digestive system	1593	CYP27A1	ORPHA:909
HP:0025031	Abnormality of the digestive system	3514	IGKC	OMIM:614102
HP:0025031	Abnormality of the digestive system	5896	RAG1	ORPHA:39041
HP:0025031	Abnormality of the digestive system	5897	RAG2	ORPHA:39041
HP:0025031	Abnormality of the digestive system	64421	DCLRE1C	ORPHA:39041
HP:0025031	Abnormality of the digestive system	64421	DCLRE1C	OMIM:602450
HP:0025031	Abnormality of the digestive system	100	ADA	ORPHA:39041
HP:0025031	Abnormality of the digestive system	100	ADA	OMIM:102700
HP:0025031	Abnormality of the digestive system	3425	IDUA	ORPHA:93473
HP:0025031	Abnormality of the digestive system	23474	ETHE1	OMIM:602473
HP:0025031	Abnormality of the digestive system	55027	HEATR3	OMIM:620072
HP:0025031	Abnormality of the digestive system	56052	ALG1	ORPHA:79327
HP:0025031	Abnormality of the digestive system	123264	SLC51B	OMIM:619481
HP:0025031	Abnormality of the digestive system	60468	BACH2	OMIM:618394
HP:0025031	Abnormality of the digestive system	200931	SLC51A	OMIM:619484
HP:0025031	Abnormality of the digestive system	11311	VPS45	OMIM:615285
HP:0025031	Abnormality of the digestive system	50615	IL21R	OMIM:615207
HP:0025031	Abnormality of the digestive system	498	ATP5F1A	OMIM:620358
HP:0025031	Abnormality of the digestive system	917	CD3G	OMIM:615607
HP:0025031	Abnormality of the digestive system	55343	SLC35C1	ORPHA:99843
HP:0025031	Abnormality of the digestive system	5966	REL	OMIM:619652
HP:0025031	Abnormality of the digestive system	5317	PKP1	ORPHA:158668
HP:0025031	Abnormality of the digestive system	5236	PGM1	OMIM:614921
HP:0025031	Abnormality of the digestive system	84433	CARD11	OMIM:617638
HP:0025031	Abnormality of the digestive system	915	CD3D	OMIM:615617
HP:0025031	Abnormality of the digestive system	721	C4B	OMIM:614379
HP:0025031	Abnormality of the digestive system	1794	DOCK2	OMIM:616433
HP:0025031	Abnormality of the digestive system	7535	ZAP70	ORPHA:911
HP:0025031	Abnormality of the digestive system	3559	IL2RA	OMIM:606367
HP:0025031	Abnormality of the digestive system	7528	YY1	ORPHA:506358
HP:0025031	Abnormality of the digestive system	5339	PLEC	OMIM:226730
HP:0025031	Abnormality of the digestive system	10606	PAICS	OMIM:619859
HP:0025031	Abnormality of the digestive system	5422	POLA1	OMIM:301030
HP:0025031	Abnormality of the digestive system	51729	WBP11	OMIM:619227
HP:0025031	Abnormality of the digestive system	6602	SMARCD1	OMIM:618779
HP:0025031	Abnormality of the digestive system	4990	SIX6	OMIM:206900
HP:0025031	Abnormality of the digestive system	9343	EFTUD2	OMIM:610536
HP:0025031	Abnormality of the digestive system	4728	NDUFS8	OMIM:618222
HP:0025031	Abnormality of the digestive system	5913	RAPSN	OMIM:616326
HP:0025031	Abnormality of the digestive system	51126	NAA20	OMIM:619717
HP:0025031	Abnormality of the digestive system	1144	CHRND	OMIM:616323
HP:0025031	Abnormality of the digestive system	7360	UGP2	OMIM:618744
HP:0025031	Abnormality of the digestive system	1134	CHRNA1	OMIM:608930
HP:0025031	Abnormality of the digestive system	10102	TSFM	OMIM:610505
HP:0025031	Abnormality of the digestive system	7681	MKRN3	OMIM:176270
HP:0025031	Abnormality of the digestive system	3653	IPW	OMIM:176270
HP:0025031	Abnormality of the digestive system	791114	PWRN1	OMIM:176270
HP:0025031	Abnormality of the digestive system	100033413	SNORD116-1	OMIM:176270
HP:0025031	Abnormality of the digestive system	8924	HERC2	OMIM:176270
HP:0025031	Abnormality of the digestive system	145624	PWAR1	OMIM:176270
HP:0025031	Abnormality of the digestive system	23742	NPAP1	OMIM:176270
HP:0025031	Abnormality of the digestive system	338433	SNORD115-1	OMIM:176270
HP:0025031	Abnormality of the digestive system	7314	UBB	ORPHA:99772
HP:0025031	Abnormality of the digestive system	57822	GRHL3	ORPHA:99772
HP:0025031	Abnormality of the digestive system	4487	MSX1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	5818	NECTIN1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	1739	DLG1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	652	BMP4	ORPHA:199306
HP:0025031	Abnormality of the digestive system	3664	IRF6	ORPHA:199306
HP:0025031	Abnormality of the digestive system	9411	ARHGAP29	ORPHA:199306
HP:0025031	Abnormality of the digestive system	1748	DLX4	ORPHA:199306
HP:0025031	Abnormality of the digestive system	6492	SIM1	ORPHA:171829
HP:0025031	Abnormality of the digestive system	51111	KMT5B	OMIM:617788
HP:0025031	Abnormality of the digestive system	318	NUDT2	OMIM:619844
HP:0025031	Abnormality of the digestive system	3417	IDH1	ORPHA:99646
HP:0025031	Abnormality of the digestive system	1145	CHRNE	OMIM:605809
HP:0025031	Abnormality of the digestive system	6601	SMARCC2	OMIM:618362
HP:0025031	Abnormality of the digestive system	1272	CNTN1	OMIM:612540
HP:0025031	Abnormality of the digestive system	8289	ARID1A	OMIM:614607
HP:0025031	Abnormality of the digestive system	91647	ATPAF2	OMIM:604273
HP:0025031	Abnormality of the digestive system	55687	TRMU	ORPHA:254864
HP:0025031	Abnormality of the digestive system	25930	PTPN23	OMIM:618890
HP:0025031	Abnormality of the digestive system	55065	SLC52A1	OMIM:615026
HP:0025031	Abnormality of the digestive system	2783	GNB2	OMIM:619503
HP:0025031	Abnormality of the digestive system	9453	GGPS1	OMIM:619518
HP:0025031	Abnormality of the digestive system	3032	HADHB	ORPHA:746
HP:0025031	Abnormality of the digestive system	3030	HADHA	ORPHA:746
HP:0025031	Abnormality of the digestive system	25915	NDUFAF3	ORPHA:70474
HP:0025031	Abnormality of the digestive system	4714	NDUFB8	ORPHA:70474
HP:0025031	Abnormality of the digestive system	4720	NDUFS2	ORPHA:70474
HP:0025031	Abnormality of the digestive system	9997	SCO2	ORPHA:70474
HP:0025031	Abnormality of the digestive system	6834	SURF1	ORPHA:70474
HP:0025031	Abnormality of the digestive system	7385	UQCRC2	OMIM:615160
HP:0025031	Abnormality of the digestive system	7204	TRIO	ORPHA:476126
HP:0025031	Abnormality of the digestive system	1806	DPYD	ORPHA:1675
HP:0025031	Abnormality of the digestive system	8292	COLQ	ORPHA:98915
HP:0025031	Abnormality of the digestive system	3913	LAMB2	ORPHA:98915
HP:0025031	Abnormality of the digestive system	7443	VRK1	OMIM:607596
HP:0025031	Abnormality of the digestive system	60386	SLC25A19	OMIM:607196
HP:0025031	Abnormality of the digestive system	5805	PTS	OMIM:261640
HP:0025031	Abnormality of the digestive system	3798	KIF5A	OMIM:617235
HP:0025031	Abnormality of the digestive system	7317	UBA1	ORPHA:1145
HP:0025031	Abnormality of the digestive system	129285	PPP1R21	OMIM:619383
HP:0025031	Abnormality of the digestive system	2742	GLRA2	OMIM:301076
HP:0025031	Abnormality of the digestive system	1892	ECHS1	OMIM:616277
HP:0025031	Abnormality of the digestive system	1140	CHRNB1	OMIM:616313
HP:0025031	Abnormality of the digestive system	9373	PLAA	OMIM:617527
HP:0025031	Abnormality of the digestive system	6664	SOX11	OMIM:615866
HP:0025031	Abnormality of the digestive system	79751	SLC25A22	ORPHA:1935
HP:0025031	Abnormality of the digestive system	150094	SIK1	ORPHA:1935
HP:0025031	Abnormality of the digestive system	6888	TALDO1	OMIM:606003
HP:0025031	Abnormality of the digestive system	6197	RPS6KA3	OMIM:303600
HP:0025031	Abnormality of the digestive system	2212	FCGR2A	OMIM:219700
HP:0025031	Abnormality of the digestive system	6794	STK11	ORPHA:2869
HP:0025031	Abnormality of the digestive system	6794	STK11	OMIM:175200
HP:0025031	Abnormality of the digestive system	84942	WDR73	OMIM:251300
HP:0025031	Abnormality of the digestive system	84942	WDR73	ORPHA:2065
HP:0025031	Abnormality of the digestive system	7148	TNXB	OMIM:606408
HP:0025031	Abnormality of the digestive system	715	C1R	OMIM:130080
HP:0025031	Abnormality of the digestive system	7043	TGFB3	OMIM:615582
HP:0025031	Abnormality of the digestive system	169792	GLIS3	OMIM:610199
HP:0025031	Abnormality of the digestive system	51002	TPRKB	ORPHA:2065
HP:0025031	Abnormality of the digestive system	55644	OSGEP	ORPHA:2065
HP:0025031	Abnormality of the digestive system	55644	OSGEP	OMIM:617729
HP:0025031	Abnormality of the digestive system	57122	NUP107	ORPHA:2065
HP:0025031	Abnormality of the digestive system	10785	WDR4	ORPHA:2065
HP:0025031	Abnormality of the digestive system	55746	NUP133	ORPHA:2065
HP:0025031	Abnormality of the digestive system	112858	TP53RK	ORPHA:2065
HP:0025031	Abnormality of the digestive system	8270	LAGE3	ORPHA:2065
HP:0025031	Abnormality of the digestive system	2165	F13B	ORPHA:331
HP:0025031	Abnormality of the digestive system	2162	F13A1	ORPHA:331
HP:0025031	Abnormality of the digestive system	7454	WAS	OMIM:301000
HP:0025031	Abnormality of the digestive system	7454	WAS	ORPHA:906
HP:0025031	Abnormality of the digestive system	331	XIAP	OMIM:300635
HP:0025031	Abnormality of the digestive system	10616	RBCK1	OMIM:615895
HP:0025031	Abnormality of the digestive system	5243	ABCB1	OMIM:612244
HP:0025031	Abnormality of the digestive system	3257	HPS1	OMIM:203300
HP:0025031	Abnormality of the digestive system	987	LRBA	OMIM:614700
HP:0025031	Abnormality of the digestive system	7456	WIPF1	ORPHA:906
HP:0025031	Abnormality of the digestive system	8737	RIPK1	OMIM:618108
HP:0025031	Abnormality of the digestive system	10095	ARPC1B	OMIM:617718
HP:0025031	Abnormality of the digestive system	2000	ELF4	OMIM:301074
HP:0025031	Abnormality of the digestive system	64127	NOD2	OMIM:266600
HP:0025031	Abnormality of the digestive system	3569	IL6	OMIM:266600
HP:0025031	Abnormality of the digestive system	57511	COG6	OMIM:614576
HP:0025031	Abnormality of the digestive system	345611	IRGM	OMIM:612278
HP:0025031	Abnormality of the digestive system	59067	IL21	OMIM:615767
HP:0025031	Abnormality of the digestive system	64858	DCLRE1B	OMIM:620133
HP:0025031	Abnormality of the digestive system	27249	MMADHC	ORPHA:79283
HP:0025031	Abnormality of the digestive system	727	C5	OMIM:609536
HP:0025031	Abnormality of the digestive system	6603	SMARCD2	OMIM:617475
HP:0025031	Abnormality of the digestive system	390594	KBTBD13	ORPHA:171439
HP:0025031	Abnormality of the digestive system	2811	GP1BA	ORPHA:274
HP:0025031	Abnormality of the digestive system	2811	GP1BA	ORPHA:853
HP:0025031	Abnormality of the digestive system	2811	GP1BA	OMIM:231200
HP:0025031	Abnormality of the digestive system	2815	GP9	ORPHA:274
HP:0025031	Abnormality of the digestive system	2815	GP9	OMIM:231200
HP:0025031	Abnormality of the digestive system	5351	PLOD1	OMIM:225400
HP:0025031	Abnormality of the digestive system	2158	F9	OMIM:306900
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	ORPHA:849
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	OMIM:273800
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	ORPHA:853
HP:0025031	Abnormality of the digestive system	3690	ITGB3	ORPHA:849
HP:0025031	Abnormality of the digestive system	3690	ITGB3	ORPHA:853
HP:0025031	Abnormality of the digestive system	2160	F11	ORPHA:329
HP:0025031	Abnormality of the digestive system	2159	F10	ORPHA:328
HP:0025031	Abnormality of the digestive system	9103	FCGR2C	ORPHA:3002
HP:0025031	Abnormality of the digestive system	2155	F7	ORPHA:327
HP:0025031	Abnormality of the digestive system	7450	VWF	OMIM:193400
HP:0025031	Abnormality of the digestive system	2244	FGB	ORPHA:98881
HP:0025031	Abnormality of the digestive system	2244	FGB	ORPHA:101041
HP:0025031	Abnormality of the digestive system	2266	FGG	ORPHA:98881
HP:0025031	Abnormality of the digestive system	2266	FGG	ORPHA:101041
HP:0025031	Abnormality of the digestive system	5054	SERPINE1	ORPHA:465
HP:0025031	Abnormality of the digestive system	368	ABCC6	OMIM:177850
HP:0025031	Abnormality of the digestive system	368	ABCC6	OMIM:264800
HP:0025031	Abnormality of the digestive system	368	ABCC6	ORPHA:758
HP:0025031	Abnormality of the digestive system	64132	XYLT2	OMIM:264800
HP:0025031	Abnormality of the digestive system	3998	LMAN1	ORPHA:35909
HP:0025031	Abnormality of the digestive system	90411	MCFD2	ORPHA:35909
HP:0025031	Abnormality of the digestive system	3673	ITGA2	ORPHA:853
HP:0025031	Abnormality of the digestive system	135228	CD109	ORPHA:853
HP:0025031	Abnormality of the digestive system	2157	F8	ORPHA:169805
HP:0025031	Abnormality of the digestive system	2157	F8	ORPHA:169802
HP:0025031	Abnormality of the digestive system	2147	F2	OMIM:613679
HP:0025031	Abnormality of the digestive system	8328	GFI1B	OMIM:187900
HP:0025031	Abnormality of the digestive system	6584	SLC22A5	ORPHA:158
HP:0025031	Abnormality of the digestive system	6584	SLC22A5	OMIM:212140
HP:0025031	Abnormality of the digestive system	51103	NDUFAF1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	51103	NDUFAF1	OMIM:618234
HP:0025031	Abnormality of the digestive system	91942	NDUFAF2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	51300	TIMMDC1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4716	NDUFB10	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4723	NDUFV1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	55572	FOXRED1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	284184	NDUFAF8	ORPHA:2609
HP:0025031	Abnormality of the digestive system	55863	TMEM126B	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4729	NDUFV2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4694	NDUFA1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4726	NDUFS6	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4722	NDUFS3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	79133	NDUFAF5	ORPHA:2609
HP:0025031	Abnormality of the digestive system	126328	NDUFA11	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4709	NDUFB3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	80224	NUBPL	ORPHA:2609
HP:0025031	Abnormality of the digestive system	29078	NDUFAF4	ORPHA:2609
HP:0025031	Abnormality of the digestive system	374291	NDUFS7	ORPHA:2609
HP:0025031	Abnormality of the digestive system	374291	NDUFS7	OMIM:618224
HP:0025031	Abnormality of the digestive system	4700	NDUFA6	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4719	NDUFS1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4719	NDUFS1	OMIM:618226
HP:0025031	Abnormality of the digestive system	4715	NDUFB9	ORPHA:2609
HP:0025031	Abnormality of the digestive system	55240	STEAP3	OMIM:615234
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230600
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230650
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230500
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:253010
HP:0025031	Abnormality of the digestive system	84334	COA8	ORPHA:436271
HP:0025031	Abnormality of the digestive system	148738	HJV	OMIM:602390
HP:0025031	Abnormality of the digestive system	51	ACOX1	ORPHA:2971
HP:0025031	Abnormality of the digestive system	51	ACOX1	OMIM:264470
HP:0025031	Abnormality of the digestive system	2067	ERCC1	ORPHA:90322
HP:0025031	Abnormality of the digestive system	939	CD27	OMIM:615122
HP:0025031	Abnormality of the digestive system	5184	PEPD	OMIM:170100
HP:0025031	Abnormality of the digestive system	5184	PEPD	ORPHA:742
HP:0025031	Abnormality of the digestive system	65082	VPS33A	OMIM:617303
HP:0025031	Abnormality of the digestive system	84936	ZFYVE19	OMIM:619849
HP:0025031	Abnormality of the digestive system	79158	GNPTAB	OMIM:252500
HP:0025031	Abnormality of the digestive system	7086	TKT	ORPHA:488618
HP:0025031	Abnormality of the digestive system	91869	RFT1	ORPHA:244310
HP:0025031	Abnormality of the digestive system	91869	RFT1	OMIM:612015
HP:0025031	Abnormality of the digestive system	55109	AGGF1	ORPHA:90308
HP:0025031	Abnormality of the digestive system	57231	SNX14	OMIM:616354
HP:0025031	Abnormality of the digestive system	28755	TRAC	OMIM:615387
HP:0025031	Abnormality of the digestive system	388962	BOLA3	OMIM:614299
HP:0025031	Abnormality of the digestive system	3039	HBA1	ORPHA:163596
HP:0025031	Abnormality of the digestive system	3039	HBA1	OMIM:613978
HP:0025031	Abnormality of the digestive system	3040	HBA2	ORPHA:163596
HP:0025031	Abnormality of the digestive system	3040	HBA2	OMIM:613978
HP:0025031	Abnormality of the digestive system	1186	CLCN7	OMIM:618541
HP:0025031	Abnormality of the digestive system	1186	CLCN7	ORPHA:667
HP:0025031	Abnormality of the digestive system	1186	CLCN7	OMIM:611490
HP:0025031	Abnormality of the digestive system	5311	PKD2	OMIM:613095
HP:0025031	Abnormality of the digestive system	8482	SEMA7A	OMIM:619874
HP:0025031	Abnormality of the digestive system	7381	UQCRB	OMIM:615158
HP:0025031	Abnormality of the digestive system	54440	SASH3	OMIM:301082
HP:0025031	Abnormality of the digestive system	2517	FUCA1	ORPHA:349
HP:0025031	Abnormality of the digestive system	2517	FUCA1	OMIM:230000
HP:0025031	Abnormality of the digestive system	285362	SUMF1	OMIM:272200
HP:0025031	Abnormality of the digestive system	285362	SUMF1	ORPHA:585
HP:0025031	Abnormality of the digestive system	166785	MMAA	OMIM:251100
HP:0025031	Abnormality of the digestive system	5551	PRF1	OMIM:603553
HP:0025031	Abnormality of the digestive system	5551	PRF1	ORPHA:540
HP:0025031	Abnormality of the digestive system	8676	STX11	OMIM:603552
HP:0025031	Abnormality of the digestive system	8676	STX11	ORPHA:540
HP:0025031	Abnormality of the digestive system	57169	ZNFX1	OMIM:619644
HP:0025031	Abnormality of the digestive system	7841	MOGS	ORPHA:79330
HP:0025031	Abnormality of the digestive system	7841	MOGS	OMIM:606056
HP:0025031	Abnormality of the digestive system	2683	B4GALT1	ORPHA:79332
HP:0025031	Abnormality of the digestive system	38	ACAT1	ORPHA:134
HP:0025031	Abnormality of the digestive system	7030	TFE3	OMIM:301066
HP:0025031	Abnormality of the digestive system	5692	PSMB4	OMIM:617591
HP:0025031	Abnormality of the digestive system	5698	PSMB9	OMIM:617591
HP:0025031	Abnormality of the digestive system	84168	ANTXR1	OMIM:230740
HP:0025031	Abnormality of the digestive system	3172	HNF4A	OMIM:616026
HP:0025031	Abnormality of the digestive system	3172	HNF4A	ORPHA:263455
HP:0025031	Abnormality of the digestive system	51311	TLR8	OMIM:301078
HP:0025031	Abnormality of the digestive system	6927	HNF1A	ORPHA:324575
HP:0025031	Abnormality of the digestive system	205327	C2orf69	OMIM:619423
HP:0025031	Abnormality of the digestive system	4633	MYL2	OMIM:619424
HP:0025031	Abnormality of the digestive system	3000	GUCY2D	OMIM:204000
HP:0025031	Abnormality of the digestive system	344	APOC2	OMIM:207750
HP:0025031	Abnormality of the digestive system	3155	HMGCL	ORPHA:20
HP:0025031	Abnormality of the digestive system	3155	HMGCL	OMIM:246450
HP:0025031	Abnormality of the digestive system	65992	DDRGK1	OMIM:602557
HP:0025031	Abnormality of the digestive system	6448	SGSH	OMIM:252900
HP:0025031	Abnormality of the digestive system	10466	COG5	ORPHA:263487
HP:0025031	Abnormality of the digestive system	10112	KIF20A	OMIM:619433
HP:0025031	Abnormality of the digestive system	10112	KIF20A	ORPHA:75249
HP:0025031	Abnormality of the digestive system	54517	PUS7	OMIM:618342
HP:0025031	Abnormality of the digestive system	8818	DPM2	ORPHA:329178
HP:0025031	Abnormality of the digestive system	9842	PLEKHM1	OMIM:618107
HP:0025031	Abnormality of the digestive system	23451	SF3B1	ORPHA:75564
HP:0025031	Abnormality of the digestive system	29887	SNX10	ORPHA:667
HP:0025031	Abnormality of the digestive system	29887	SNX10	OMIM:615085
HP:0025031	Abnormality of the digestive system	8600	TNFSF11	ORPHA:667
HP:0025031	Abnormality of the digestive system	201294	UNC13D	ORPHA:540
HP:0025031	Abnormality of the digestive system	6813	STXBP2	ORPHA:540
HP:0025031	Abnormality of the digestive system	11277	TREX1	OMIM:225750
HP:0025031	Abnormality of the digestive system	4695	NDUFA2	OMIM:618235
HP:0025031	Abnormality of the digestive system	79868	ALG13	OMIM:300884
HP:0025031	Abnormality of the digestive system	51119	SBDS	OMIM:260400
HP:0025031	Abnormality of the digestive system	51119	SBDS	ORPHA:811
HP:0025031	Abnormality of the digestive system	134218	DNAJC21	OMIM:260400
HP:0025031	Abnormality of the digestive system	134218	DNAJC21	ORPHA:811
HP:0025031	Abnormality of the digestive system	22861	NLRP1	OMIM:617388
HP:0025031	Abnormality of the digestive system	1130	LYST	OMIM:214500
HP:0025031	Abnormality of the digestive system	4125	MAN2B1	OMIM:248500
HP:0025031	Abnormality of the digestive system	3394	IRF8	OMIM:226990
HP:0025031	Abnormality of the digestive system	11274	USP18	OMIM:617397
HP:0025031	Abnormality of the digestive system	4864	NPC1	OMIM:257220
HP:0025031	Abnormality of the digestive system	3158	HMGCS2	OMIM:605911
HP:0025031	Abnormality of the digestive system	112812	FDX2	OMIM:251900
HP:0025031	Abnormality of the digestive system	6007	RHD	OMIM:619462
HP:0025031	Abnormality of the digestive system	55340	GIMAP5	OMIM:619463
HP:0025031	Abnormality of the digestive system	3560	IL2RB	OMIM:618495
HP:0025031	Abnormality of the digestive system	8883	NAE1	OMIM:620210
HP:0025031	Abnormality of the digestive system	84701	COX4I2	OMIM:612714
HP:0025031	Abnormality of the digestive system	8943	AP3D1	OMIM:617050
HP:0025031	Abnormality of the digestive system	57061	HYMAI	ORPHA:96191
HP:0025031	Abnormality of the digestive system	5325	PLAGL1	ORPHA:96191
HP:0025031	Abnormality of the digestive system	83706	FERMT3	OMIM:612840
HP:0025031	Abnormality of the digestive system	84665	MYPN	ORPHA:75249
HP:0025031	Abnormality of the digestive system	2318	FLNC	ORPHA:75249
HP:0025031	Abnormality of the digestive system	7139	TNNT2	ORPHA:75249
HP:0025031	Abnormality of the digestive system	7137	TNNI3	ORPHA:75249
HP:0025031	Abnormality of the digestive system	7504	XK	OMIM:300842
HP:0025031	Abnormality of the digestive system	374354	NHLRC2	OMIM:618278
HP:0025031	Abnormality of the digestive system	10651	MTX2	OMIM:619127
HP:0025031	Abnormality of the digestive system	226	ALDOA	OMIM:611881
HP:0025031	Abnormality of the digestive system	3557	IL1RN	OMIM:612852
HP:0025031	Abnormality of the digestive system	7284	TUFM	OMIM:610678
HP:0025031	Abnormality of the digestive system	2799	GNS	OMIM:252940
HP:0025031	Abnormality of the digestive system	940	CD28	ORPHA:3162
HP:0025031	Abnormality of the digestive system	940	CD28	ORPHA:2584
HP:0025031	Abnormality of the digestive system	7133	TNFRSF1B	ORPHA:3162
HP:0025031	Abnormality of the digestive system	7133	TNFRSF1B	ORPHA:2584
HP:0025031	Abnormality of the digestive system	7390	UROS	OMIM:263700
HP:0025031	Abnormality of the digestive system	8651	SOCS1	OMIM:619375
HP:0025031	Abnormality of the digestive system	9487	PIGL	OMIM:280000
HP:0025031	Abnormality of the digestive system	22800	RRAS2	ORPHA:648
HP:0025031	Abnormality of the digestive system	8216	LZTR1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6016	RIT1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6237	RRAS	ORPHA:648
HP:0025031	Abnormality of the digestive system	5894	RAF1	ORPHA:648
HP:0025031	Abnormality of the digestive system	22808	MRAS	ORPHA:648
HP:0025031	Abnormality of the digestive system	200734	SPRED2	ORPHA:648
HP:0025031	Abnormality of the digestive system	6654	SOS1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6655	SOS2	ORPHA:648
HP:0025031	Abnormality of the digestive system	5781	PTPN11	ORPHA:648
HP:0025031	Abnormality of the digestive system	5922	RASA2	ORPHA:648
HP:0025031	Abnormality of the digestive system	138050	HGSNAT	OMIM:252930
HP:0025031	Abnormality of the digestive system	10020	GNE	ORPHA:3166
HP:0025031	Abnormality of the digestive system	10020	GNE	OMIM:269921
HP:0025031	Abnormality of the digestive system	1719	DHFR	OMIM:613839
HP:0025031	Abnormality of the digestive system	64131	XYLT1	ORPHA:370930
HP:0025031	Abnormality of the digestive system	146059	CDAN1	OMIM:224120
HP:0025031	Abnormality of the digestive system	10535	RNASEH2A	OMIM:610333
HP:0025031	Abnormality of the digestive system	5696	PSMB8	OMIM:256040
HP:0025031	Abnormality of the digestive system	4669	NAGLU	OMIM:252920
HP:0025031	Abnormality of the digestive system	27183	VPS4A	OMIM:619273
HP:0025031	Abnormality of the digestive system	356	FASLG	ORPHA:3261
HP:0025031	Abnormality of the digestive system	356	FASLG	OMIM:601859
HP:0025031	Abnormality of the digestive system	843	CASP10	ORPHA:3261
HP:0025031	Abnormality of the digestive system	843	CASP10	OMIM:603909
HP:0025031	Abnormality of the digestive system	10125	RASGRP1	ORPHA:3261
HP:0025031	Abnormality of the digestive system	4570	MT-TN	OMIM:220110
HP:0025031	Abnormality of the digestive system	83700	JAM3	OMIM:613730
HP:0025031	Abnormality of the digestive system	8854	ALDH1A2	OMIM:620025
HP:0025031	Abnormality of the digestive system	4758	NEU1	OMIM:256550
HP:0025031	Abnormality of the digestive system	4758	NEU1	ORPHA:93399
HP:0025031	Abnormality of the digestive system	4758	NEU1	ORPHA:93400
HP:0025031	Abnormality of the digestive system	54968	TMEM70	ORPHA:1194
HP:0025031	Abnormality of the digestive system	55788	LMBRD1	OMIM:277380
HP:0025031	Abnormality of the digestive system	79631	EFL1	ORPHA:811
HP:0025031	Abnormality of the digestive system	79631	EFL1	OMIM:617941
HP:0025031	Abnormality of the digestive system	84987	COX14	OMIM:619053
HP:0025031	Abnormality of the digestive system	6005	RHAG	OMIM:185000
HP:0025031	Abnormality of the digestive system	5699	PSMB10	OMIM:619175
HP:0025031	Abnormality of the digestive system	2538	G6PC1	OMIM:232200
HP:0025031	Abnormality of the digestive system	92579	G6PC3	OMIM:612541
HP:0025031	Abnormality of the digestive system	9927	MFN2	ORPHA:2398
HP:0025031	Abnormality of the digestive system	686	BTD	OMIM:253260
HP:0025031	Abnormality of the digestive system	8792	TNFRSF11A	OMIM:612301
HP:0025031	Abnormality of the digestive system	55858	TMEM165	OMIM:614727
HP:0025031	Abnormality of the digestive system	5313	PKLR	OMIM:266200
HP:0025031	Abnormality of the digestive system	56984	PSMG2	OMIM:619183
HP:0025031	Abnormality of the digestive system	23116	TOGARAM1	OMIM:619185
HP:0025031	Abnormality of the digestive system	9377	COX5A	OMIM:619064
HP:0025031	Abnormality of the digestive system	4591	TRIM37	OMIM:253250
HP:0025031	Abnormality of the digestive system	4591	TRIM37	ORPHA:2576
HP:0025031	Abnormality of the digestive system	23230	VPS13A	ORPHA:2388
HP:0025031	Abnormality of the digestive system	63894	VIPAS39	OMIM:613404
HP:0025031	Abnormality of the digestive system	3782	KCNN3	ORPHA:3473
HP:0025031	Abnormality of the digestive system	374393	FAM111B	OMIM:615704
HP:0025031	Abnormality of the digestive system	338328	GPIHBP1	OMIM:615947
HP:0025031	Abnormality of the digestive system	1798	DPAGT1	ORPHA:86309
HP:0025031	Abnormality of the digestive system	5091	PC	OMIM:266150
HP:0025031	Abnormality of the digestive system	4607	MYBPC3	OMIM:115197
HP:0025031	Abnormality of the digestive system	51660	MPC1	OMIM:614741
HP:0025031	Abnormality of the digestive system	4519	MT-CYB	ORPHA:137675
HP:0025031	Abnormality of the digestive system	2548	GAA	ORPHA:308552
HP:0025031	Abnormality of the digestive system	2548	GAA	OMIM:232300
HP:0025031	Abnormality of the digestive system	3911	LAMA5	OMIM:620076
HP:0025031	Abnormality of the digestive system	1028	CDKN1C	OMIM:130650
HP:0025031	Abnormality of the digestive system	10984	KCNQ1OT1	OMIM:130650
HP:0025031	Abnormality of the digestive system	3481	IGF2	OMIM:130650
HP:0025031	Abnormality of the digestive system	3784	KCNQ1	OMIM:130650
HP:0025031	Abnormality of the digestive system	445	ASS1	OMIM:215700
HP:0025031	Abnormality of the digestive system	10568	SLC34A2	ORPHA:60025
HP:0025031	Abnormality of the digestive system	51067	YARS2	OMIM:613561
HP:0025031	Abnormality of the digestive system	93183	PIGM	OMIM:610293
HP:0025031	Abnormality of the digestive system	7351	UCP2	ORPHA:276556
HP:0025031	Abnormality of the digestive system	4054	LTBP3	OMIM:617809
HP:0025031	Abnormality of the digestive system	84529	CDIN1	OMIM:615631
HP:0025031	Abnormality of the digestive system	11133	KPTN	OMIM:615637
HP:0025031	Abnormality of the digestive system	6948	TCN2	OMIM:275350
HP:0025031	Abnormality of the digestive system	4173	MCM4	OMIM:609981
HP:0025031	Abnormality of the digestive system	411	ARSB	OMIM:253200
HP:0025031	Abnormality of the digestive system	549	AUH	ORPHA:67046
HP:0025031	Abnormality of the digestive system	6513	SLC2A1	OMIM:608885
HP:0025031	Abnormality of the digestive system	6833	ABCC8	ORPHA:276575
HP:0025031	Abnormality of the digestive system	3767	KCNJ11	ORPHA:276580
HP:0025031	Abnormality of the digestive system	51218	GLRX5	OMIM:616860
HP:0025031	Abnormality of the digestive system	6097	RORC	OMIM:616622
HP:0025031	Abnormality of the digestive system	708	C1QBP	OMIM:617713
HP:0025031	Abnormality of the digestive system	84061	MAGT1	OMIM:301031
HP:0025031	Abnormality of the digestive system	23322	RPGRIP1L	ORPHA:1454
HP:0025031	Abnormality of the digestive system	55210	ATAD3A	OMIM:618810
HP:0025031	Abnormality of the digestive system	326625	MMAB	OMIM:251110
HP:0025031	Abnormality of the digestive system	760	CA2	ORPHA:2785
HP:0025031	Abnormality of the digestive system	2584	GALK1	ORPHA:79237
HP:0025031	Abnormality of the digestive system	10367	MICU1	OMIM:615673
HP:0025031	Abnormality of the digestive system	3702	ITK	OMIM:613011
HP:0025031	Abnormality of the digestive system	2588	GALNS	OMIM:253000
HP:0025031	Abnormality of the digestive system	26047	CNTNAP2	ORPHA:163681
HP:0025031	Abnormality of the digestive system	200894	ARL13B	OMIM:612291
HP:0025031	Abnormality of the digestive system	28957	MRPS28	OMIM:618958
HP:0025031	Abnormality of the digestive system	3931	LCAT	ORPHA:79292
HP:0025031	Abnormality of the digestive system	100506658	OCLN	OMIM:251290
HP:0025031	Abnormality of the digestive system	27232	GNMT	OMIM:606664
HP:0025031	Abnormality of the digestive system	10577	NPC2	OMIM:607625
HP:0025031	Abnormality of the digestive system	26503	SLC17A5	OMIM:269920
HP:0025031	Abnormality of the digestive system	2990	GUSB	OMIM:253220
HP:0025031	Abnormality of the digestive system	4668	NAGA	ORPHA:79281
HP:0025031	Abnormality of the digestive system	4668	NAGA	ORPHA:79279
HP:0025031	Abnormality of the digestive system	2639	GCDH	OMIM:231670
HP:0025031	Abnormality of the digestive system	3636	INPPL1	ORPHA:2746
HP:0025031	Abnormality of the digestive system	2582	GALE	OMIM:230350
HP:0025031	Abnormality of the digestive system	4854	NOTCH3	ORPHA:2591
HP:0025031	Abnormality of the digestive system	164656	TMPRSS6	ORPHA:209981
HP:0025031	Abnormality of the digestive system	8516	ITGA8	ORPHA:1848
HP:0025031	Abnormality of the digestive system	26281	FGF20	ORPHA:1848
HP:0025031	Abnormality of the digestive system	2674	GFRA1	ORPHA:1848
HP:0025031	Abnormality of the digestive system	7484	WNT9B	ORPHA:1848
HP:0025031	Abnormality of the digestive system	80000	GREB1L	ORPHA:1848
HP:0025031	Abnormality of the digestive system	1281	COL3A1	ORPHA:286
HP:0025031	Abnormality of the digestive system	162	AP1B1	ORPHA:171851
HP:0025031	Abnormality of the digestive system	50485	SMARCAL1	ORPHA:1830
HP:0025031	Abnormality of the digestive system	4645	MYO5B	OMIM:251850
HP:0025031	Abnormality of the digestive system	83483	PLVAP	OMIM:618183
HP:0025031	Abnormality of the digestive system	6772	STAT1	OMIM:614162
HP:0025031	Abnormality of the digestive system	5286	PIK3C2A	OMIM:618440
HP:0025031	Abnormality of the digestive system	29929	ALG6	ORPHA:79320
HP:0025031	Abnormality of the digestive system	100303755	PET117	OMIM:619063
HP:0025031	Abnormality of the digestive system	8694	DGAT1	OMIM:615863
HP:0025031	Abnormality of the digestive system	84342	COG8	ORPHA:95428
HP:0025031	Abnormality of the digestive system	7852	CXCR4	ORPHA:51636
HP:0025031	Abnormality of the digestive system	9939	RBM8A	OMIM:274000
HP:0025031	Abnormality of the digestive system	8241	RBM10	OMIM:311900
HP:0025031	Abnormality of the digestive system	51780	KDM3B	OMIM:618846
HP:0025031	Abnormality of the digestive system	815	CAMK2A	OMIM:617798
HP:0025031	Abnormality of the digestive system	1063	CENPF	OMIM:243605
HP:0025031	Abnormality of the digestive system	25914	RTTN	ORPHA:468631
HP:0025031	Abnormality of the digestive system	25790	CFAP45	OMIM:619608
HP:0025031	Abnormality of the digestive system	2201	FBN2	ORPHA:115
HP:0025031	Abnormality of the digestive system	9493	KIF23	ORPHA:98870
HP:0025031	Abnormality of the digestive system	29127	RACGAP1	ORPHA:98870
HP:0025031	Abnormality of the digestive system	79600	TCTN1	ORPHA:475
HP:0025031	Abnormality of the digestive system	54806	AHI1	ORPHA:475
HP:0025031	Abnormality of the digestive system	54806	AHI1	ORPHA:220493
HP:0025031	Abnormality of the digestive system	65250	CPLANE1	ORPHA:475
HP:0025031	Abnormality of the digestive system	9731	CEP104	ORPHA:475
HP:0025031	Abnormality of the digestive system	219844	HYLS1	ORPHA:475
HP:0025031	Abnormality of the digestive system	23247	KATNIP	ORPHA:475
HP:0025031	Abnormality of the digestive system	219854	TMEM218	ORPHA:475
HP:0025031	Abnormality of the digestive system	95681	CEP41	ORPHA:475
HP:0025031	Abnormality of the digestive system	95681	CEP41	ORPHA:220493
HP:0025031	Abnormality of the digestive system	79867	TCTN2	ORPHA:475
HP:0025031	Abnormality of the digestive system	80776	B9D2	ORPHA:475
HP:0025031	Abnormality of the digestive system	10464	PIBF1	ORPHA:475
HP:0025031	Abnormality of the digestive system	80210	ARMC9	ORPHA:475
HP:0025031	Abnormality of the digestive system	25776	CBY1	ORPHA:475
HP:0025031	Abnormality of the digestive system	27077	B9D1	ORPHA:475
HP:0025031	Abnormality of the digestive system	403	ARL3	ORPHA:475
HP:0025031	Abnormality of the digestive system	65062	TMEM237	ORPHA:475
HP:0025031	Abnormality of the digestive system	65062	TMEM237	ORPHA:220497
HP:0025031	Abnormality of the digestive system	65062	TMEM237	ORPHA:2318
HP:0025031	Abnormality of the digestive system	10262	SF3B4	OMIM:154400
HP:0025031	Abnormality of the digestive system	26128	KIFBP	OMIM:609460
HP:0025031	Abnormality of the digestive system	26128	KIFBP	ORPHA:66629
HP:0025031	Abnormality of the digestive system	627	BDNF	ORPHA:661
HP:0025031	Abnormality of the digestive system	51360	MBTPS2	OMIM:308205
HP:0025031	Abnormality of the digestive system	51360	MBTPS2	ORPHA:2273
HP:0025031	Abnormality of the digestive system	51360	MBTPS2	ORPHA:85284
HP:0025031	Abnormality of the digestive system	83479	DDX59	ORPHA:2919
HP:0025031	Abnormality of the digestive system	83479	DDX59	OMIM:174300
HP:0025031	Abnormality of the digestive system	6591	SNAI2	ORPHA:2884
HP:0025031	Abnormality of the digestive system	6591	SNAI2	ORPHA:895
HP:0025031	Abnormality of the digestive system	7846	TUBA1A	ORPHA:171680
HP:0025031	Abnormality of the digestive system	7299	TYR	ORPHA:895
HP:0025031	Abnormality of the digestive system	4254	KITLG	ORPHA:895
HP:0025031	Abnormality of the digestive system	5077	PAX3	ORPHA:894
HP:0025031	Abnormality of the digestive system	5077	PAX3	OMIM:148820
HP:0025031	Abnormality of the digestive system	93210	PGAP3	ORPHA:247262
HP:0025031	Abnormality of the digestive system	284098	PIGW	ORPHA:247262
HP:0025031	Abnormality of the digestive system	79583	TMEM231	ORPHA:2318
HP:0025031	Abnormality of the digestive system	51524	TMEM138	ORPHA:2318
HP:0025031	Abnormality of the digestive system	23090	ZNF423	ORPHA:2318
HP:0025031	Abnormality of the digestive system	51259	TMEM216	ORPHA:2318
HP:0025031	Abnormality of the digestive system	3897	L1CAM	OMIM:304100
HP:0025031	Abnormality of the digestive system	3897	L1CAM	ORPHA:1497
HP:0025031	Abnormality of the digestive system	5310	PKD1	OMIM:173900
HP:0025031	Abnormality of the digestive system	2138	EYA1	OMIM:113650
HP:0025031	Abnormality of the digestive system	6495	SIX1	OMIM:113650
HP:0025031	Abnormality of the digestive system	55209	SETD5	ORPHA:404440
HP:0025031	Abnormality of the digestive system	118856	MMP21	OMIM:616749
HP:0025031	Abnormality of the digestive system	23592	LEMD3	ORPHA:94063
HP:0025031	Abnormality of the digestive system	23414	ZFPM2	ORPHA:2140
HP:0025031	Abnormality of the digestive system	4036	LRP2	ORPHA:2143
HP:0025031	Abnormality of the digestive system	4036	LRP2	OMIM:222448
HP:0025031	Abnormality of the digestive system	3192	HNRNPU	ORPHA:238769
HP:0025031	Abnormality of the digestive system	1718	DHCR24	ORPHA:35107
HP:0025031	Abnormality of the digestive system	745	MYRF	OMIM:618280
HP:0025031	Abnormality of the digestive system	25981	DNAH1	ORPHA:244
HP:0025031	Abnormality of the digestive system	115948	ODAD3	ORPHA:244
HP:0025031	Abnormality of the digestive system	54768	HYDIN	ORPHA:244
HP:0025031	Abnormality of the digestive system	352909	DNAAF3	ORPHA:244
HP:0025031	Abnormality of the digestive system	27148	STK36	ORPHA:244
HP:0025031	Abnormality of the digestive system	51314	NME8	ORPHA:244
HP:0025031	Abnormality of the digestive system	92749	DRC1	ORPHA:244
HP:0025031	Abnormality of the digestive system	54970	TTC12	ORPHA:244
HP:0025031	Abnormality of the digestive system	152110	NEK10	ORPHA:244
HP:0025031	Abnormality of the digestive system	221421	RSPH9	ORPHA:244
HP:0025031	Abnormality of the digestive system	85478	CCDC65	ORPHA:244
HP:0025031	Abnormality of the digestive system	55036	CCDC40	ORPHA:244
HP:0025031	Abnormality of the digestive system	51364	ZMYND10	ORPHA:244
HP:0025031	Abnormality of the digestive system	64446	DNAI2	ORPHA:244
HP:0025031	Abnormality of the digestive system	6674	SPAG1	ORPHA:244
HP:0025031	Abnormality of the digestive system	83544	DNAL1	ORPHA:244
HP:0025031	Abnormality of the digestive system	89765	RSPH1	ORPHA:244
HP:0025031	Abnormality of the digestive system	83538	ODAD4	ORPHA:244
HP:0025031	Abnormality of the digestive system	200373	CFAP221	ORPHA:244
HP:0025031	Abnormality of the digestive system	374407	DNAJB13	ORPHA:244
HP:0025031	Abnormality of the digestive system	55172	DNAAF2	ORPHA:244
HP:0025031	Abnormality of the digestive system	2622	GAS8	ORPHA:244
HP:0025031	Abnormality of the digestive system	23639	DNAAF11	ORPHA:244
HP:0025031	Abnormality of the digestive system	27019	DNAI1	ORPHA:244
HP:0025031	Abnormality of the digestive system	345895	RSPH4A	ORPHA:244
HP:0025031	Abnormality of the digestive system	54919	DNAAF5	ORPHA:244
HP:0025031	Abnormality of the digestive system	6103	RPGR	ORPHA:244
HP:0025031	Abnormality of the digestive system	388389	CCDC103	ORPHA:244
HP:0025031	Abnormality of the digestive system	93233	ODAD1	ORPHA:244
HP:0025031	Abnormality of the digestive system	55130	ODAD2	ORPHA:244
HP:0025031	Abnormality of the digestive system	1767	DNAH5	ORPHA:244
HP:0025031	Abnormality of the digestive system	83861	RSPH3	ORPHA:244
HP:0025031	Abnormality of the digestive system	345643	MCIDAS	ORPHA:244
HP:0025031	Abnormality of the digestive system	56683	CFAP298	ORPHA:244
HP:0025031	Abnormality of the digestive system	79925	SPEF2	ORPHA:244
HP:0025031	Abnormality of the digestive system	10309	CCNO	ORPHA:244
HP:0025031	Abnormality of the digestive system	115399	LRRC56	ORPHA:244
HP:0025031	Abnormality of the digestive system	139212	DNAAF6	ORPHA:244
HP:0025031	Abnormality of the digestive system	123872	DNAAF1	ORPHA:244
HP:0025031	Abnormality of the digestive system	85016	CFAP300	ORPHA:244
HP:0025031	Abnormality of the digestive system	339829	CCDC39	ORPHA:244
HP:0025031	Abnormality of the digestive system	8701	DNAH11	ORPHA:244
HP:0025031	Abnormality of the digestive system	1770	DNAH9	ORPHA:244
HP:0025031	Abnormality of the digestive system	246176	GAS2L2	ORPHA:244
HP:0025031	Abnormality of the digestive system	5406	PNLIP	OMIM:614338
HP:0025031	Abnormality of the digestive system	8309	ACOX2	OMIM:617308
HP:0025031	Abnormality of the digestive system	55699	IARS2	OMIM:616007
HP:0025031	Abnormality of the digestive system	55699	IARS2	ORPHA:436174
HP:0025031	Abnormality of the digestive system	8086	AAAS	ORPHA:869
HP:0025031	Abnormality of the digestive system	8086	AAAS	OMIM:231550
HP:0025031	Abnormality of the digestive system	763	CA5A	OMIM:615751
HP:0025031	Abnormality of the digestive system	58484	NLRC4	OMIM:616050
HP:0025031	Abnormality of the digestive system	728294	D2HGDH	OMIM:600721
HP:0025031	Abnormality of the digestive system	11235	PDCD10	ORPHA:221061
HP:0025031	Abnormality of the digestive system	83605	CCM2	ORPHA:221061
HP:0025031	Abnormality of the digestive system	889	KRIT1	ORPHA:221061
HP:0025031	Abnormality of the digestive system	9578	CDC42BPB	OMIM:619841
HP:0025031	Abnormality of the digestive system	10660	LBX1	OMIM:619483
HP:0025031	Abnormality of the digestive system	2593	GAMT	OMIM:612736
HP:0025031	Abnormality of the digestive system	2710	GK	OMIM:307030
HP:0025031	Abnormality of the digestive system	4511	MT-TC	OMIM:540000
HP:0025031	Abnormality of the digestive system	57107	PDSS2	ORPHA:255249
HP:0025031	Abnormality of the digestive system	6821	SUOX	OMIM:272300
HP:0025031	Abnormality of the digestive system	57551	TAOK1	OMIM:619575
HP:0025031	Abnormality of the digestive system	10054	UBA2	OMIM:619959
HP:0025031	Abnormality of the digestive system	412	STS	ORPHA:281090
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:177904
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:177901
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:98754
HP:0025031	Abnormality of the digestive system	219972	MPEG1	OMIM:619223
HP:0025031	Abnormality of the digestive system	5610	EIF2AK2	OMIM:618877
HP:0025031	Abnormality of the digestive system	28982	FLVCR1	ORPHA:88628
HP:0025031	Abnormality of the digestive system	59335	PRDM12	OMIM:616488
HP:0025031	Abnormality of the digestive system	8091	HMGA2	ORPHA:99971
HP:0025031	Abnormality of the digestive system	55148	UBR7	OMIM:619189
HP:0025031	Abnormality of the digestive system	9051	PSTPIP1	OMIM:604416
HP:0025031	Abnormality of the digestive system	7128	TNFAIP3	OMIM:616744
HP:0025031	Abnormality of the digestive system	10625	IVNS1ABP	OMIM:618969
HP:0025031	Abnormality of the digestive system	3587	IL10RA	OMIM:613148
HP:0025031	Abnormality of the digestive system	7010	TEK	ORPHA:1059
HP:0025031	Abnormality of the digestive system	7010	TEK	OMIM:600195
HP:0025031	Abnormality of the digestive system	596	BCL2	ORPHA:545
HP:0025031	Abnormality of the digestive system	604	BCL6	ORPHA:545
HP:0025031	Abnormality of the digestive system	629	CFB	OMIM:615561
HP:0025031	Abnormality of the digestive system	9255	AIMP1	OMIM:260600
HP:0025031	Abnormality of the digestive system	5340	PLG	OMIM:217090
HP:0025031	Abnormality of the digestive system	5340	PLG	ORPHA:722
HP:0025031	Abnormality of the digestive system	57492	ARID1B	OMIM:135900
HP:0025031	Abnormality of the digestive system	26153	KIF26A	OMIM:620156
HP:0025031	Abnormality of the digestive system	6253	RTN2	ORPHA:100993
HP:0025031	Abnormality of the digestive system	51271	UBAP1	ORPHA:100993
HP:0025031	Abnormality of the digestive system	80217	CFAP43	OMIM:236690
HP:0025031	Abnormality of the digestive system	51256	TBC1D7	OMIM:248000
HP:0025031	Abnormality of the digestive system	10908	PNPLA6	ORPHA:2377
HP:0025031	Abnormality of the digestive system	9657	IQCB1	ORPHA:3156
HP:0025031	Abnormality of the digestive system	27130	INVS	ORPHA:3156
HP:0025031	Abnormality of the digestive system	261734	NPHP4	ORPHA:3156
HP:0025031	Abnormality of the digestive system	22897	CEP164	ORPHA:3156
HP:0025031	Abnormality of the digestive system	11146	GLMN	ORPHA:83454
HP:0025031	Abnormality of the digestive system	716	C1S	OMIM:617174
HP:0025031	Abnormality of the digestive system	4913	NTHL1	ORPHA:454840
HP:0025031	Abnormality of the digestive system	4913	NTHL1	OMIM:616415
HP:0025031	Abnormality of the digestive system	8930	MBD4	OMIM:619975
HP:0025031	Abnormality of the digestive system	4092	SMAD7	OMIM:612229
HP:0025031	Abnormality of the digestive system	4595	MUTYH	OMIM:608456
HP:0025031	Abnormality of the digestive system	6223	RPS19	OMIM:105650
HP:0025031	Abnormality of the digestive system	4193	MDM2	ORPHA:524
HP:0025031	Abnormality of the digestive system	9184	BUB3	ORPHA:1052
HP:0025031	Abnormality of the digestive system	9702	CEP57	ORPHA:1052
HP:0025031	Abnormality of the digestive system	9319	TRIP13	ORPHA:1052
HP:0025031	Abnormality of the digestive system	3026	HABP2	ORPHA:319487
HP:0025031	Abnormality of the digestive system	9562	MINPP1	ORPHA:319487
HP:0025031	Abnormality of the digestive system	4437	MSH3	ORPHA:480536
HP:0025031	Abnormality of the digestive system	2050	EPHB4	OMIM:617300
HP:0025031	Abnormality of the digestive system	26175	LYSET	OMIM:619345
HP:0025031	Abnormality of the digestive system	1811	SLC26A3	OMIM:214700
HP:0025031	Abnormality of the digestive system	5476	CTSA	OMIM:256540
HP:0025031	Abnormality of the digestive system	54872	PIGG	ORPHA:280
HP:0025031	Abnormality of the digestive system	7469	NELFA	ORPHA:280
HP:0025031	Abnormality of the digestive system	90416	CCDC32	OMIM:619123
HP:0025031	Abnormality of the digestive system	168507	PKD1L1	OMIM:617205
HP:0025031	Abnormality of the digestive system	146845	CFAP52	OMIM:619607
HP:0025031	Abnormality of the digestive system	2302	FOXJ1	OMIM:618699
HP:0025031	Abnormality of the digestive system	220136	CFAP53	OMIM:614779
HP:0025031	Abnormality of the digestive system	55997	CFC1	OMIM:605376
HP:0025031	Abnormality of the digestive system	5648	MASP1	OMIM:257920
HP:0025031	Abnormality of the digestive system	1308	COL17A1	ORPHA:79406
HP:0025031	Abnormality of the digestive system	5336	PLCG2	OMIM:614878
HP:0025031	Abnormality of the digestive system	10269	ZMPSTE24	ORPHA:1662
HP:0025031	Abnormality of the digestive system	151648	SGO1	OMIM:616201
HP:0025031	Abnormality of the digestive system	205717	USF3	ORPHA:201
HP:0025031	Abnormality of the digestive system	100144748	KLLN	ORPHA:201
HP:0025031	Abnormality of the digestive system	91801	ALKBH8	OMIM:618504
HP:0025031	Abnormality of the digestive system	51608	GET4	OMIM:620200
HP:0025031	Abnormality of the digestive system	3858	KRT10	ORPHA:312
HP:0025031	Abnormality of the digestive system	3848	KRT1	ORPHA:312
HP:0025031	Abnormality of the digestive system	221496	LEMD2	OMIM:619322
HP:0025031	Abnormality of the digestive system	79971	WLS	OMIM:619648
HP:0025031	Abnormality of the digestive system	1175	AP2S1	OMIM:600740
HP:0025031	Abnormality of the digestive system	3033	HADH	OMIM:231530
HP:0025031	Abnormality of the digestive system	85476	GFM1	OMIM:609060
HP:0025031	Abnormality of the digestive system	6566	SLC16A1	OMIM:610021
HP:0025031	Abnormality of the digestive system	2317	FLNB	ORPHA:1190
HP:0025031	Abnormality of the digestive system	3875	KRT18	OMIM:215600
HP:0025031	Abnormality of the digestive system	4068	SH2D1A	OMIM:308240
HP:0025031	Abnormality of the digestive system	2475	MTOR	ORPHA:457485
HP:0025031	Abnormality of the digestive system	5321	PLA2G4A	OMIM:618372
HP:0025031	Abnormality of the digestive system	1024	CDK8	OMIM:618748
HP:0025031	Abnormality of the digestive system	54361	WNT4	ORPHA:139466
HP:0025031	Abnormality of the digestive system	57379	AICDA	OMIM:605258
HP:0025031	Abnormality of the digestive system	488	ATP2A2	ORPHA:218
HP:0025031	Abnormality of the digestive system	6905	TBCE	ORPHA:2323
HP:0025031	Abnormality of the digestive system	2694	CBLIF	OMIM:261000
HP:0025031	Abnormality of the digestive system	5880	RAC2	OMIM:608203
HP:0025031	Abnormality of the digestive system	4659	PPP1R12A	OMIM:618820
HP:0025031	Abnormality of the digestive system	407975	MIR17HG	ORPHA:391646
HP:0025031	Abnormality of the digestive system	8604	SLC25A12	OMIM:612949
HP:0025031	Abnormality of the digestive system	78989	COLEC11	OMIM:265050
HP:0025031	Abnormality of the digestive system	3593	IL12B	ORPHA:3287
HP:0025031	Abnormality of the digestive system	6945	MLX	ORPHA:3287
HP:0025031	Abnormality of the digestive system	4927	NUP88	ORPHA:994
HP:0025031	Abnormality of the digestive system	4654	MYOD1	ORPHA:994
HP:0025031	Abnormality of the digestive system	285489	DOK7	ORPHA:994
HP:0025031	Abnormality of the digestive system	4126	MANBA	ORPHA:118
HP:0025031	Abnormality of the digestive system	410	ARSA	OMIM:250100
HP:0025031	Abnormality of the digestive system	63901	FAM111A	OMIM:602361
HP:0025031	Abnormality of the digestive system	6786	STIM1	OMIM:185070
HP:0025031	Abnormality of the digestive system	2746	GLUD1	OMIM:606762
HP:0025031	Abnormality of the digestive system	51726	DNAJB11	ORPHA:730
HP:0025031	Abnormality of the digestive system	23193	GANAB	ORPHA:730
HP:0025031	Abnormality of the digestive system	29880	ALG5	ORPHA:730
HP:0025031	Abnormality of the digestive system	80114	BICC1	ORPHA:730
HP:0025031	Abnormality of the digestive system	8312	AXIN1	OMIM:114550
HP:0025031	Abnormality of the digestive system	3482	IGF2R	OMIM:114550
HP:0025031	Abnormality of the digestive system	7167	TPI1	OMIM:615512
HP:0025031	Abnormality of the digestive system	11093	ADAMTS13	OMIM:274150
HP:0025031	Abnormality of the digestive system	6554	SLC10A1	OMIM:619256
HP:0025031	Abnormality of the digestive system	7201	TRHR	ORPHA:99832
HP:0025031	Abnormality of the digestive system	2688	GH1	OMIM:262400
HP:0025031	Abnormality of the digestive system	84153	RNASEH2C	ORPHA:51
HP:0025031	Abnormality of the digestive system	79621	RNASEH2B	ORPHA:51
HP:0025031	Abnormality of the digestive system	134353	LSM11	ORPHA:51
HP:0025031	Abnormality of the digestive system	84314	TMEM107	ORPHA:564
HP:0025031	Abnormality of the digestive system	57096	RPGRIP1	ORPHA:564
HP:0025031	Abnormality of the digestive system	7373	COL14A1	ORPHA:79501
HP:0025031	Abnormality of the digestive system	79719	AAGAB	ORPHA:79501
HP:0025031	Abnormality of the digestive system	6714	SRC	OMIM:114500
HP:0025031	Abnormality of the digestive system	10395	DLC1	OMIM:114500
HP:0025031	Abnormality of the digestive system	11200	CHEK2	OMIM:114500
HP:0025031	Abnormality of the digestive system	8313	AXIN2	OMIM:114500
HP:0025031	Abnormality of the digestive system	5782	PTPN12	OMIM:114500
HP:0025031	Abnormality of the digestive system	5320	PLA2G2A	OMIM:114500
HP:0025031	Abnormality of the digestive system	6790	AURKA	OMIM:114500
HP:0025031	Abnormality of the digestive system	1630	DCC	OMIM:114500
HP:0025031	Abnormality of the digestive system	581	BAX	OMIM:114500
HP:0025031	Abnormality of the digestive system	25788	RAD54B	OMIM:114500
HP:0025031	Abnormality of the digestive system	595	CCND1	OMIM:114500
HP:0025031	Abnormality of the digestive system	699	BUB1	OMIM:114500
HP:0025031	Abnormality of the digestive system	701	BUB1B	OMIM:114500
HP:0025031	Abnormality of the digestive system	7097	TLR2	OMIM:114500
HP:0025031	Abnormality of the digestive system	4893	NRAS	OMIM:114500
HP:0025031	Abnormality of the digestive system	7157	TP53	OMIM:114500
HP:0025031	Abnormality of the digestive system	4163	MCC	OMIM:114500
HP:0025031	Abnormality of the digestive system	207	AKT1	OMIM:114500
HP:0025031	Abnormality of the digestive system	5157	PDGFRL	OMIM:114500
HP:0025031	Abnormality of the digestive system	5795	PTPRJ	OMIM:114500
HP:0025031	Abnormality of the digestive system	8314	BAP1	ORPHA:618
HP:0025031	Abnormality of the digestive system	4286	MITF	ORPHA:618
HP:0025031	Abnormality of the digestive system	1019	CDK4	ORPHA:618
HP:0025031	Abnormality of the digestive system	4255	MGMT	ORPHA:618
HP:0025031	Abnormality of the digestive system	54386	TERF2IP	ORPHA:618
HP:0025031	Abnormality of the digestive system	4157	MC1R	ORPHA:618
HP:0025031	Abnormality of the digestive system	65057	ACD	ORPHA:618
HP:0025031	Abnormality of the digestive system	1029	CDKN2A	ORPHA:618
HP:0025031	Abnormality of the digestive system	25913	POT1	ORPHA:618
HP:0025031	Abnormality of the digestive system	4089	SMAD4	OMIM:174900
HP:0025031	Abnormality of the digestive system	6389	SDHA	ORPHA:44890
HP:0025031	Abnormality of the digestive system	6390	SDHB	ORPHA:44890
HP:0025031	Abnormality of the digestive system	6391	SDHC	ORPHA:44890
HP:0025031	Abnormality of the digestive system	5156	PDGFRA	ORPHA:44890
HP:0025031	Abnormality of the digestive system	3815	KIT	ORPHA:44890
HP:0025031	Abnormality of the digestive system	5573	PRKAR1A	ORPHA:1359
HP:0025031	Abnormality of the digestive system	50940	PDE11A	ORPHA:1359
HP:0025031	Abnormality of the digestive system	343641	TGM6	OMIM:613908
HP:0025031	Abnormality of the digestive system	343641	TGM6	ORPHA:276193
HP:0025031	Abnormality of the digestive system	5654	HTRA1	ORPHA:199354
HP:0025031	Abnormality of the digestive system	2583	B4GALNT1	ORPHA:101006
HP:0025031	Abnormality of the digestive system	23503	ZFYVE26	ORPHA:100996
HP:0025031	Abnormality of the digestive system	9131	AIFM1	ORPHA:238329
HP:0025031	Abnormality of the digestive system	4524	MTHFR	ORPHA:395
HP:0025031	Abnormality of the digestive system	199857	ALG14	OMIM:619036
HP:0025031	Abnormality of the digestive system	51399	TRAPPC4	OMIM:618741
HP:0025031	Abnormality of the digestive system	1352	COX10	OMIM:619046
HP:0025031	Abnormality of the digestive system	9382	COG1	OMIM:611209
HP:0025031	Abnormality of the digestive system	63908	NAPB	OMIM:620033
HP:0025031	Abnormality of the digestive system	56992	KIF15	ORPHA:261323
HP:0025031	Abnormality of the digestive system	10381	TUBB3	ORPHA:300570
HP:0025031	Abnormality of the digestive system	55681	SCYL2	OMIM:618766
HP:0025031	Abnormality of the digestive system	170825	GSX2	OMIM:618646
HP:0025031	Abnormality of the digestive system	157680	VPS13B	OMIM:216550
HP:0025031	Abnormality of the digestive system	157680	VPS13B	ORPHA:193
HP:0025031	Abnormality of the digestive system	7386	UQCRFS1	OMIM:618775
HP:0025031	Abnormality of the digestive system	88	ACTN2	OMIM:618654
HP:0025031	Abnormality of the digestive system	833	CARS1	OMIM:618891
HP:0025031	Abnormality of the digestive system	5813	PURA	ORPHA:438216
HP:0025031	Abnormality of the digestive system	5813	PURA	ORPHA:314655
HP:0025031	Abnormality of the digestive system	51021	MRPS16	OMIM:610498
HP:0025031	Abnormality of the digestive system	10436	EMG1	ORPHA:1270
HP:0025031	Abnormality of the digestive system	4849	CNOT3	OMIM:618672
HP:0025031	Abnormality of the digestive system	200424	TET3	OMIM:618798
HP:0025031	Abnormality of the digestive system	10667	FARS2	ORPHA:466722
HP:0025031	Abnormality of the digestive system	644096	SDHAF1	ORPHA:3208
HP:0025031	Abnormality of the digestive system	22930	RAB3GAP1	ORPHA:1387
HP:0025031	Abnormality of the digestive system	84295	PHF6	ORPHA:127
HP:0025031	Abnormality of the digestive system	6567	SLC16A2	ORPHA:59
HP:0025031	Abnormality of the digestive system	6567	SLC16A2	OMIM:300523
HP:0025031	Abnormality of the digestive system	3329	HSPD1	OMIM:612233
HP:0025031	Abnormality of the digestive system	84705	GTPBP3	ORPHA:444013
HP:0025031	Abnormality of the digestive system	1291	COL6A1	OMIM:254090
HP:0025031	Abnormality of the digestive system	1292	COL6A2	OMIM:254090
HP:0025031	Abnormality of the digestive system	1293	COL6A3	OMIM:254090
HP:0025031	Abnormality of the digestive system	51728	POLR3K	OMIM:619310
HP:0025031	Abnormality of the digestive system	2073	ERCC5	ORPHA:1466
HP:0025031	Abnormality of the digestive system	5604	MAP2K1	ORPHA:1340
HP:0025031	Abnormality of the digestive system	5604	MAP2K1	OMIM:163950
HP:0025031	Abnormality of the digestive system	6045	RNF2	OMIM:619460
HP:0025031	Abnormality of the digestive system	29968	PSAT1	ORPHA:284417
HP:0025031	Abnormality of the digestive system	55163	PNPO	OMIM:610090
HP:0025031	Abnormality of the digestive system	128637	TBC1D20	OMIM:615663
HP:0025031	Abnormality of the digestive system	25939	SAMHD1	OMIM:612952
HP:0025031	Abnormality of the digestive system	4548	MTR	OMIM:250940
HP:0025031	Abnormality of the digestive system	4337	MOCS1	OMIM:252150
HP:0025031	Abnormality of the digestive system	6452	SH3BP2	ORPHA:184
HP:0025031	Abnormality of the digestive system	90522	YIF1B	OMIM:619125
HP:0025031	Abnormality of the digestive system	9326	ZNHIT3	OMIM:260565
HP:0025031	Abnormality of the digestive system	5500	PPP1CB	OMIM:617506
HP:0025031	Abnormality of the digestive system	55252	ASXL2	OMIM:617190
HP:0025031	Abnormality of the digestive system	5879	RAC1	OMIM:617751
HP:0025031	Abnormality of the digestive system	5879	RAC1	ORPHA:500159
HP:0025031	Abnormality of the digestive system	2806	GOT2	OMIM:618721
HP:0025031	Abnormality of the digestive system	4848	CNOT2	OMIM:618608
HP:0025031	Abnormality of the digestive system	10210	TOPORS	ORPHA:2754
HP:0025031	Abnormality of the digestive system	9851	KIAA0753	ORPHA:2754
HP:0025031	Abnormality of the digestive system	5147	PDE6D	ORPHA:2754
HP:0025031	Abnormality of the digestive system	317662	FAM149B1	ORPHA:2754
HP:0025031	Abnormality of the digestive system	2036	EPB41L1	OMIM:614257
HP:0025031	Abnormality of the digestive system	84148	KAT8	OMIM:618974
HP:0025031	Abnormality of the digestive system	57194	ATP10A	ORPHA:411515
HP:0025031	Abnormality of the digestive system	25974	MMACHC	OMIM:277400
HP:0025031	Abnormality of the digestive system	5052	PRDX1	OMIM:277400
HP:0025031	Abnormality of the digestive system	22806	IKZF3	OMIM:619437
HP:0025031	Abnormality of the digestive system	57192	MCOLN1	ORPHA:578
HP:0025031	Abnormality of the digestive system	124583	CANT1	ORPHA:1425
HP:0025031	Abnormality of the digestive system	55790	CSGALNACT1	ORPHA:1425
HP:0025031	Abnormality of the digestive system	5925	RB1	ORPHA:1587
HP:0025031	Abnormality of the digestive system	2998	GYS2	ORPHA:2089
HP:0025031	Abnormality of the digestive system	9247	GCM2	ORPHA:99879
HP:0025031	Abnormality of the digestive system	8675	STX16	ORPHA:94089
HP:0025031	Abnormality of the digestive system	11178	LZTS1	OMIM:133239
HP:0025031	Abnormality of the digestive system	1351	COX8A	OMIM:619059
HP:0025031	Abnormality of the digestive system	8218	CLTCL1	ORPHA:453510
HP:0025031	Abnormality of the digestive system	84706	GPT2	ORPHA:477673
HP:0025031	Abnormality of the digestive system	6323	SCN1A	OMIM:619317
HP:0025031	Abnormality of the digestive system	23345	SYNE1	ORPHA:319332
HP:0025031	Abnormality of the digestive system	128869	PIGU	OMIM:618590
HP:0025031	Abnormality of the digestive system	253959	RALGAPA1	OMIM:618797
HP:0025031	Abnormality of the digestive system	7358	UGDH	OMIM:618792
HP:0025031	Abnormality of the digestive system	1185	CLCN6	OMIM:619173
HP:0025031	Abnormality of the digestive system	93627	TBCK	OMIM:616900
HP:0025031	Abnormality of the digestive system	819	CAMLG	OMIM:620201
HP:0025031	Abnormality of the digestive system	51569	UFM1	OMIM:617899
HP:0025031	Abnormality of the digestive system	6659	SOX4	OMIM:618506
HP:0025031	Abnormality of the digestive system	6659	SOX4	ORPHA:1465
HP:0025031	Abnormality of the digestive system	387787	LIPT2	OMIM:617668
HP:0025031	Abnormality of the digestive system	27245	AHDC1	ORPHA:412069
HP:0025031	Abnormality of the digestive system	84197	POMK	OMIM:615249
HP:0025031	Abnormality of the digestive system	2770	GNAI1	OMIM:619854
HP:0025031	Abnormality of the digestive system	4330	MN1	OMIM:618774
HP:0025031	Abnormality of the digestive system	790955	UQCC3	OMIM:616111
HP:0025031	Abnormality of the digestive system	51633	OTUD6B	OMIM:617452
HP:0025031	Abnormality of the digestive system	51633	OTUD6B	ORPHA:505237
HP:0025031	Abnormality of the digestive system	5593	PRKG2	OMIM:619638
HP:0025031	Abnormality of the digestive system	4285	MIPEP	OMIM:617228
HP:0025031	Abnormality of the digestive system	4208	MEF2C	ORPHA:228384
HP:0025031	Abnormality of the digestive system	4208	MEF2C	OMIM:613443
HP:0025031	Abnormality of the digestive system	125988	MICOS13	OMIM:618329
HP:0025031	Abnormality of the digestive system	56160	NSMCE3	OMIM:617241
HP:0025031	Abnormality of the digestive system	5881	RAC3	OMIM:618577
HP:0025031	Abnormality of the digestive system	9488	PIGB	OMIM:618580
HP:0025031	Abnormality of the digestive system	84894	LINGO1	OMIM:618103
HP:0025031	Abnormality of the digestive system	92335	STRADA	ORPHA:500533
HP:0025031	Abnormality of the digestive system	92335	STRADA	OMIM:611087
HP:0025031	Abnormality of the digestive system	9526	MPDU1	OMIM:609180
HP:0025031	Abnormality of the digestive system	9526	MPDU1	ORPHA:79323
HP:0025031	Abnormality of the digestive system	7707	ZNF148	OMIM:617260
HP:0025031	Abnormality of the digestive system	55610	VPS50	OMIM:619685
HP:0025031	Abnormality of the digestive system	23114	NFASC	OMIM:618356
HP:0025031	Abnormality of the digestive system	29925	GMPPB	ORPHA:370968
HP:0025031	Abnormality of the digestive system	29925	GMPPB	OMIM:615350
HP:0025031	Abnormality of the digestive system	29925	GMPPB	OMIM:615351
HP:0025031	Abnormality of the digestive system	439	GET3	OMIM:620203
HP:0025031	Abnormality of the digestive system	50801	KCNK4	OMIM:618381
HP:0025031	Abnormality of the digestive system	57187	THOC2	OMIM:300957
HP:0025031	Abnormality of the digestive system	10846	PDE10A	ORPHA:494526
HP:0025031	Abnormality of the digestive system	10846	PDE10A	OMIM:616921
HP:0025031	Abnormality of the digestive system	8452	CUL3	OMIM:619239
HP:0025031	Abnormality of the digestive system	60558	GUF1	OMIM:617065
HP:0025031	Abnormality of the digestive system	201595	STT3B	ORPHA:370924
HP:0025031	Abnormality of the digestive system	201595	STT3B	OMIM:615597
HP:0025031	Abnormality of the digestive system	25821	MTO1	OMIM:614702
HP:0025031	Abnormality of the digestive system	80055	PGAP1	OMIM:615802
HP:0025031	Abnormality of the digestive system	6662	SOX9	OMIM:114290
HP:0025031	Abnormality of the digestive system	771	CA12	OMIM:143860
HP:0025031	Abnormality of the digestive system	114034	TOE1	OMIM:614969
HP:0025031	Abnormality of the digestive system	54675	CRLS1	OMIM:620167
HP:0025031	Abnormality of the digestive system	501	ALDH7A1	ORPHA:3006
HP:0025031	Abnormality of the digestive system	11212	PLPBP	ORPHA:3006
HP:0025031	Abnormality of the digestive system	64919	BCL11B	OMIM:618092
HP:0025031	Abnormality of the digestive system	23036	ZNF292	OMIM:619188
HP:0025031	Abnormality of the digestive system	1906	EDN1	ORPHA:137888
HP:0025031	Abnormality of the digestive system	5332	PLCB4	ORPHA:137888
HP:0025031	Abnormality of the digestive system	5332	PLCB4	OMIM:614669
HP:0025031	Abnormality of the digestive system	2773	GNAI3	ORPHA:137888
HP:0025031	Abnormality of the digestive system	84947	SERAC1	OMIM:614739
HP:0025031	Abnormality of the digestive system	6234	RPS28	OMIM:606164
HP:0025031	Abnormality of the digestive system	9653	HS2ST1	OMIM:619194
HP:0025031	Abnormality of the digestive system	79753	SNIP1	OMIM:614501
HP:0025031	Abnormality of the digestive system	55719	SLF2	OMIM:620184
HP:0025031	Abnormality of the digestive system	79759	ZNF668	OMIM:620194
HP:0025031	Abnormality of the digestive system	1737	DLAT	OMIM:245348
HP:0025031	Abnormality of the digestive system	57459	GATAD2B	ORPHA:363686
HP:0025031	Abnormality of the digestive system	22907	DHX30	OMIM:617804
HP:0025031	Abnormality of the digestive system	9230	RAB11B	OMIM:617807
HP:0025031	Abnormality of the digestive system	10229	COQ7	OMIM:616733
HP:0025031	Abnormality of the digestive system	90161	HS6ST2	OMIM:301025
HP:0025031	Abnormality of the digestive system	6597	SMARCA4	ORPHA:1465
HP:0025031	Abnormality of the digestive system	6597	SMARCA4	OMIM:614609
HP:0025031	Abnormality of the digestive system	81620	CDT1	ORPHA:2554
HP:0025031	Abnormality of the digestive system	81620	CDT1	OMIM:613804
HP:0025031	Abnormality of the digestive system	3868	KRT16	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3872	KRT17	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3853	KRT6A	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3854	KRT6B	ORPHA:2309
HP:0025031	Abnormality of the digestive system	81689	ISCA1	OMIM:617613
HP:0025031	Abnormality of the digestive system	4329	ALDH6A1	OMIM:614105
HP:0025031	Abnormality of the digestive system	8936	WASF1	OMIM:618707
HP:0025031	Abnormality of the digestive system	2893	GRIA4	OMIM:617864
HP:0025031	Abnormality of the digestive system	4038	LRP4	OMIM:616304
HP:0025031	Abnormality of the digestive system	71	ACTG1	ORPHA:2995
HP:0025031	Abnormality of the digestive system	5087	PBX1	OMIM:617641
HP:0025031	Abnormality of the digestive system	5087	PBX1	ORPHA:97362
HP:0025031	Abnormality of the digestive system	3861	KRT14	ORPHA:79396
HP:0025031	Abnormality of the digestive system	104	ADARB1	OMIM:618862
HP:0025031	Abnormality of the digestive system	8294	H4C9	OMIM:619951
HP:0025031	Abnormality of the digestive system	3703	STT3A	OMIM:615596
HP:0025031	Abnormality of the digestive system	3703	STT3A	ORPHA:370921
HP:0025031	Abnormality of the digestive system	3008	H1-4	OMIM:617537
HP:0025031	Abnormality of the digestive system	80155	NAA15	OMIM:617787
HP:0025031	Abnormality of the digestive system	10584	COLEC10	OMIM:248340
HP:0025031	Abnormality of the digestive system	55870	ASH1L	OMIM:617796
HP:0025031	Abnormality of the digestive system	9692	PRORP	OMIM:619737
HP:0025031	Abnormality of the digestive system	9581	PREPL	OMIM:616224
HP:0025031	Abnormality of the digestive system	8560	DEGS1	OMIM:618404
HP:0025031	Abnormality of the digestive system	4632	MYL1	OMIM:618414
HP:0025031	Abnormality of the digestive system	26057	ANKRD17	OMIM:619504
HP:0025031	Abnormality of the digestive system	1182	CLCN3	OMIM:619512
HP:0025031	Abnormality of the digestive system	1182	CLCN3	OMIM:619517
HP:0025031	Abnormality of the digestive system	7862	BRPF1	OMIM:617333
HP:0025031	Abnormality of the digestive system	145258	GSC	OMIM:602471
HP:0025031	Abnormality of the digestive system	10463	SLC30A9	OMIM:617595
HP:0025031	Abnormality of the digestive system	51227	PIGP	OMIM:617599
HP:0025031	Abnormality of the digestive system	27247	NFU1	OMIM:605711
HP:0025031	Abnormality of the digestive system	57505	AARS2	OMIM:614096
HP:0025031	Abnormality of the digestive system	3658	IREB2	OMIM:618451
HP:0025031	Abnormality of the digestive system	5587	PRKD1	OMIM:617364
HP:0025031	Abnormality of the digestive system	51422	PRKAG2	OMIM:261740
HP:0025031	Abnormality of the digestive system	30000	TNPO2	OMIM:619556
HP:0025031	Abnormality of the digestive system	2530	FUT8	OMIM:618005
HP:0025031	Abnormality of the digestive system	7965	AIMP2	OMIM:618006
HP:0025031	Abnormality of the digestive system	11340	EXOSC8	OMIM:616081
HP:0025031	Abnormality of the digestive system	11340	EXOSC8	ORPHA:2254
HP:0025031	Abnormality of the digestive system	23287	AGTPBP1	OMIM:618276
HP:0025031	Abnormality of the digestive system	23287	AGTPBP1	ORPHA:2254
HP:0025031	Abnormality of the digestive system	23529	CLCF1	OMIM:610313
HP:0025031	Abnormality of the digestive system	23529	CLCF1	ORPHA:1545
HP:0025031	Abnormality of the digestive system	118924	FRA10AC1	OMIM:620113
HP:0025031	Abnormality of the digestive system	23299	BICD2	OMIM:618291
HP:0025031	Abnormality of the digestive system	54938	SARS2	OMIM:613845
HP:0025031	Abnormality of the digestive system	347734	SLC35B2	OMIM:620269
HP:0025031	Abnormality of the digestive system	1119	CHKA	OMIM:620023
HP:0025031	Abnormality of the digestive system	8496	PPFIBP1	OMIM:620024
HP:0025031	Abnormality of the digestive system	1073	CFL2	ORPHA:171436
HP:0025031	Abnormality of the digestive system	9442	MED27	OMIM:619286
HP:0025031	Abnormality of the digestive system	1340	COX6B1	OMIM:619051
HP:0025031	Abnormality of the digestive system	100131801	PET100	OMIM:619055
HP:0025031	Abnormality of the digestive system	9739	SETD1A	OMIM:619056
HP:0025031	Abnormality of the digestive system	93986	FOXP2	ORPHA:209908
HP:0025031	Abnormality of the digestive system	4338	MOCS2	OMIM:252160
HP:0025031	Abnormality of the digestive system	1267	CNP	OMIM:619071
HP:0025031	Abnormality of the digestive system	51010	EXOSC3	ORPHA:2254
HP:0025031	Abnormality of the digestive system	51010	EXOSC3	OMIM:614678
HP:0025031	Abnormality of the digestive system	91137	SLC25A46	ORPHA:2254
HP:0025031	Abnormality of the digestive system	83475	DOHH	OMIM:620066
HP:0025031	Abnormality of the digestive system	10236	HNRNPR	OMIM:620073
HP:0025031	Abnormality of the digestive system	7025	NR2F1	OMIM:615722
HP:0025031	Abnormality of the digestive system	84570	COL25A1	ORPHA:1143
HP:0025031	Abnormality of the digestive system	57222	ERGIC1	ORPHA:1143
HP:0025031	Abnormality of the digestive system	9775	EIF4A3	OMIM:268305
HP:0025031	Abnormality of the digestive system	57017	COQ9	OMIM:614654
HP:0025031	Abnormality of the digestive system	9512	PMPCB	OMIM:617954
HP:0025031	Abnormality of the digestive system	5718	PSMD12	ORPHA:529962
HP:0025031	Abnormality of the digestive system	5718	PSMD12	OMIM:617516
HP:0025031	Abnormality of the digestive system	2186	BPTF	ORPHA:529962
HP:0025031	Abnormality of the digestive system	54664	TMEM106B	OMIM:617964
HP:0025031	Abnormality of the digestive system	11019	LIAS	OMIM:614462
HP:0025031	Abnormality of the digestive system	3747	KCNC2	OMIM:619913
HP:0025031	Abnormality of the digestive system	3704	ITPA	OMIM:616647
HP:0025031	Abnormality of the digestive system	54870	QRICH1	OMIM:617982
HP:0025031	Abnormality of the digestive system	4780	NFE2L2	OMIM:617744
HP:0025031	Abnormality of the digestive system	55704	CCDC88A	OMIM:617507
HP:0025031	Abnormality of the digestive system	440	ASNS	OMIM:615574
HP:0025031	Abnormality of the digestive system	200205	IBA57	OMIM:615330
HP:0025031	Abnormality of the digestive system	9439	MED23	OMIM:614249
HP:0025031	Abnormality of the digestive system	18	ABAT	OMIM:613163
HP:0025031	Abnormality of the digestive system	92935	MARS2	OMIM:616430
HP:0025031	Abnormality of the digestive system	4858	NOVA2	OMIM:618859
HP:0025031	Abnormality of the digestive system	58499	ZNF462	OMIM:618619
HP:0025031	Abnormality of the digestive system	9990	SLC12A6	OMIM:218000
HP:0025031	Abnormality of the digestive system	8462	KLF11	ORPHA:552
HP:0025031	Abnormality of the digestive system	2645	GCK	ORPHA:552
HP:0025031	Abnormality of the digestive system	26060	APPL1	ORPHA:552
HP:0025031	Abnormality of the digestive system	640	BLK	ORPHA:552
HP:0025031	Abnormality of the digestive system	4760	NEUROD1	ORPHA:552
HP:0025031	Abnormality of the digestive system	5078	PAX4	ORPHA:552
HP:0025031	Abnormality of the digestive system	3630	INS	ORPHA:552
HP:0025031	Abnormality of the digestive system	7174	TPP2	ORPHA:444463
HP:0025031	Abnormality of the digestive system	84818	IL17RC	ORPHA:1334
HP:0025031	Abnormality of the digestive system	64581	CLEC7A	ORPHA:1334
HP:0025031	Abnormality of the digestive system	23765	IL17RA	ORPHA:1334
HP:0025031	Abnormality of the digestive system	10758	TRAF3IP2	ORPHA:1334
HP:0025031	Abnormality of the digestive system	112744	IL17F	ORPHA:1334
HP:0025031	Abnormality of the digestive system	54	ACP5	ORPHA:1855
HP:0025031	Abnormality of the digestive system	3553	IL1B	OMIM:613659
HP:0025031	Abnormality of the digestive system	3659	IRF1	OMIM:613659
HP:0025031	Abnormality of the digestive system	1316	KLF6	OMIM:613659
HP:0025031	Abnormality of the digestive system	256646	NUTM1	ORPHA:443167
HP:0025031	Abnormality of the digestive system	389692	MAFA	OMIM:147630
HP:0025031	Abnormality of the digestive system	26585	GREM1	ORPHA:157794
HP:0025031	Abnormality of the digestive system	6868	ADAM17	ORPHA:294023
HP:0025031	Abnormality of the digestive system	3476	IGBP1	OMIM:300472
HP:0025031	Abnormality of the digestive system	6095	RORA	OMIM:618060
HP:0025031	Abnormality of the digestive system	26115	TANC2	OMIM:618906
HP:0025031	Abnormality of the digestive system	28960	DCPS	OMIM:616459
HP:0025031	Abnormality of the digestive system	84188	FAR1	OMIM:619338
HP:0025031	Abnormality of the digestive system	9969	MED13	OMIM:618009
HP:0025031	Abnormality of the digestive system	55186	SLC25A36	OMIM:620211
HP:0025031	Abnormality of the digestive system	65109	UPF3B	OMIM:300676
HP:0025031	Abnormality of the digestive system	64321	SOX17	OMIM:613674
HP:0025031	Abnormality of the digestive system	7319	UBE2A	ORPHA:163956
HP:0025031	Abnormality of the digestive system	81603	TRIM8	OMIM:619428
HP:0025031	Abnormality of the digestive system	4891	SLC11A2	OMIM:206100
HP:0025031	Abnormality of the digestive system	2495	FTH1	OMIM:615517
HP:0025031	Abnormality of the digestive system	25778	DSTYK	ORPHA:101003
HP:0025031	Abnormality of the digestive system	22854	NTNG1	ORPHA:3095
HP:0025031	Abnormality of the digestive system	7305	TYROBP	ORPHA:2770
HP:0025031	Abnormality of the digestive system	9935	MAFB	ORPHA:233
HP:0025031	Abnormality of the digestive system	1123	CHN1	ORPHA:233
HP:0025031	Abnormality of the digestive system	341640	FREM2	OMIM:617666
HP:0025031	Abnormality of the digestive system	5889	RAD51C	OMIM:613390
HP:0025031	Abnormality of the digestive system	57217	TTC7A	OMIM:243150
HP:0025031	Abnormality of the digestive system	26123	TCTN3	ORPHA:2753
HP:0025031	Abnormality of the digestive system	55593	OTUD5	OMIM:301056
HP:0025031	Abnormality of the digestive system	3643	INSR	ORPHA:508
HP:0025031	Abnormality of the digestive system	27178	IL37	OMIM:619398
HP:0025031	Abnormality of the digestive system	3938	LCT	OMIM:223000
HP:0025031	Abnormality of the digestive system	4175	MCM6	OMIM:223100
HP:0025031	Abnormality of the digestive system	2934	GSN	ORPHA:85448
HP:0025031	Abnormality of the digestive system	26525	IL36RN	OMIM:614204
HP:0025031	Abnormality of the digestive system	462	SERPINC1	ORPHA:82
HP:0025031	Abnormality of the digestive system	5892	RAD51D	ORPHA:145
HP:0025031	Abnormality of the digestive system	10111	RAD50	ORPHA:145
HP:0025031	Abnormality of the digestive system	580	BARD1	ORPHA:145
HP:0025031	Abnormality of the digestive system	4361	MRE11	ORPHA:145
HP:0025031	Abnormality of the digestive system	56983	POGLUT1	ORPHA:79145
HP:0025031	Abnormality of the digestive system	3852	KRT5	ORPHA:79145
HP:0025031	Abnormality of the digestive system	23509	POFUT1	ORPHA:79145
HP:0025031	Abnormality of the digestive system	55851	PSENEN	ORPHA:79145
HP:0025031	Abnormality of the digestive system	2019	EN1	OMIM:619218
HP:0025031	Abnormality of the digestive system	25828	TXN2	ORPHA:478029
HP:0025031	Abnormality of the digestive system	126792	B3GALT6	OMIM:609465
HP:0025031	Abnormality of the digestive system	959	CD40LG	OMIM:308230
HP:0025031	Abnormality of the digestive system	10379	IRF9	OMIM:618648
HP:0025031	Abnormality of the digestive system	5376	PMP22	ORPHA:98916
HP:0025031	Abnormality of the digestive system	100128908	CIROP	OMIM:619702
HP:0025031	Abnormality of the digestive system	3716	JAK1	OMIM:618999
HP:0025031	Abnormality of the digestive system	4860	PNP	ORPHA:760
HP:0025031	Abnormality of the digestive system	8547	FCN3	OMIM:613860
HP:0025031	Abnormality of the digestive system	5700	PSMC1	OMIM:620071
HP:0025031	Abnormality of the digestive system	8789	FBP2	OMIM:619864
HP:0025031	Abnormality of the digestive system	56479	KCNQ5	OMIM:617601
HP:0025031	Abnormality of the digestive system	93	ACVR2B	OMIM:613751
HP:0025031	Abnormality of the digestive system	6138	RPL15	ORPHA:124
HP:0025031	Abnormality of the digestive system	6229	RPS24	ORPHA:124
HP:0025031	Abnormality of the digestive system	6125	RPL5	ORPHA:124
HP:0025031	Abnormality of the digestive system	6204	RPS10	ORPHA:124
HP:0025031	Abnormality of the digestive system	6165	RPL35A	ORPHA:124
HP:0025031	Abnormality of the digestive system	6232	RPS27	ORPHA:124
HP:0025031	Abnormality of the digestive system	6231	RPS26	ORPHA:124
HP:0025031	Abnormality of the digestive system	11224	RPL35	ORPHA:124
HP:0025031	Abnormality of the digestive system	6160	RPL31	ORPHA:124
HP:0025031	Abnormality of the digestive system	6218	RPS17	ORPHA:124
HP:0025031	Abnormality of the digestive system	6201	RPS7	ORPHA:124
HP:0025031	Abnormality of the digestive system	6155	RPL27	ORPHA:124
HP:0025031	Abnormality of the digestive system	6154	RPL26	ORPHA:124
HP:0025031	Abnormality of the digestive system	6210	RPS15A	ORPHA:124
HP:0025031	Abnormality of the digestive system	90121	TSR2	ORPHA:124
HP:0025031	Abnormality of the digestive system	6141	RPL18	ORPHA:124
HP:0025031	Abnormality of the digestive system	6235	RPS29	ORPHA:124
HP:0025031	Abnormality of the digestive system	55037	PTCD3	OMIM:619057
HP:0025031	Abnormality of the digestive system	57520	HECW2	OMIM:617268
HP:0025031	Abnormality of the digestive system	161742	SPRED1	ORPHA:137605
HP:0025031	Abnormality of the digestive system	10747	MASP2	OMIM:613791
HP:0025031	Abnormality of the digestive system	29775	CARD10	OMIM:619632
HP:0025031	Abnormality of the digestive system	55765	INAVA	OMIM:618077
HP:0025031	Abnormality of the digestive system	96459	FNIP1	OMIM:619705
HP:0025031	Abnormality of the digestive system	51135	IRAK4	OMIM:607676
HP:0025031	Abnormality of the digestive system	3501	IGHG2	ORPHA:183675
HP:0025031	Abnormality of the digestive system	1075	CTSC	ORPHA:678
HP:0025031	Abnormality of the digestive system	9321	TRIP11	ORPHA:93299
HP:0025031	Abnormality of the digestive system	6135	RPL11	OMIM:612562
HP:0025031	Abnormality of the digestive system	10398	MYL9	OMIM:619365
HP:0025031	Abnormality of the digestive system	51651	PTRH2	ORPHA:456312
HP:0025031	Abnormality of the digestive system	64220	STRA6	ORPHA:2470
HP:0025031	Abnormality of the digestive system	5915	RARB	ORPHA:2470
HP:0025031	Abnormality of the digestive system	256297	PTF1A	ORPHA:65288
HP:0025031	Abnormality of the digestive system	3651	PDX1	OMIM:260370
HP:0025031	Abnormality of the digestive system	2627	GATA6	ORPHA:2255
HP:0025031	Abnormality of the digestive system	23019	CNOT1	ORPHA:556955
HP:0025031	Abnormality of the digestive system	23019	CNOT1	OMIM:618500
HP:0025031	Abnormality of the digestive system	3975	LHX1	ORPHA:261265
HP:0025031	Abnormality of the digestive system	54894	RNF43	ORPHA:157798
HP:0025031	Abnormality of the digestive system	7486	WRN	ORPHA:902
HP:0025031	Abnormality of the digestive system	10483	SEC23B	OMIM:616858
HP:0025031	Abnormality of the digestive system	5426	POLE	OMIM:615083
HP:0025031	Abnormality of the digestive system	5426	POLE	ORPHA:447877
HP:0025031	Abnormality of the digestive system	9817	KEAP1	ORPHA:276399
HP:0025031	Abnormality of the digestive system	6515	SLC2A3	ORPHA:399
HP:0025031	Abnormality of the digestive system	5393	EXOSC9	OMIM:618065
HP:0025031	Abnormality of the digestive system	112	ADCY6	OMIM:616287
HP:0025031	Abnormality of the digestive system	222663	SCUBE3	OMIM:619184
HP:0025031	Abnormality of the digestive system	10755	GIPC1	ORPHA:98897
HP:0025031	Abnormality of the digestive system	81704	DOCK8	OMIM:243700
HP:0025032	Abnormality of digestive system physiology	1374	CPT1A	ORPHA:156
HP:0025032	Abnormality of digestive system physiology	2235	FECH	OMIM:177000
HP:0025032	Abnormality of digestive system physiology	6309	SC5D	ORPHA:46059
HP:0025032	Abnormality of digestive system physiology	2632	GBE1	OMIM:232500
HP:0025032	Abnormality of digestive system physiology	26160	IFT172	OMIM:615630
HP:0025032	Abnormality of digestive system physiology	9414	TJP2	OMIM:615878
HP:0025032	Abnormality of digestive system physiology	9420	CYP7B1	ORPHA:79302
HP:0025032	Abnormality of digestive system physiology	9420	CYP7B1	OMIM:613812
HP:0025032	Abnormality of digestive system physiology	6718	AKR1D1	ORPHA:79303
HP:0025032	Abnormality of digestive system physiology	6718	AKR1D1	OMIM:235555
HP:0025032	Abnormality of digestive system physiology	4536	MT-ND2	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	4537	MT-ND3	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	4577	MT-TV	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	197131	UBR1	OMIM:243800
HP:0025032	Abnormality of digestive system physiology	4141	MARS1	OMIM:615486
HP:0025032	Abnormality of digestive system physiology	10166	SLC25A15	ORPHA:415
HP:0025032	Abnormality of digestive system physiology	54658	UGT1A1	OMIM:143500
HP:0025032	Abnormality of digestive system physiology	2592	GALT	ORPHA:79239
HP:0025032	Abnormality of digestive system physiology	1738	DLD	ORPHA:2394
HP:0025032	Abnormality of digestive system physiology	51473	DCDC2	OMIM:617394
HP:0025032	Abnormality of digestive system physiology	5105	PCK1	OMIM:261680
HP:0025032	Abnormality of digestive system physiology	50619	DEF6	OMIM:619573
HP:0025032	Abnormality of digestive system physiology	7019	TFAM	OMIM:617156
HP:0025032	Abnormality of digestive system physiology	3376	IARS1	ORPHA:541423
HP:0025032	Abnormality of digestive system physiology	55764	IFT122	OMIM:218330
HP:0025032	Abnormality of digestive system physiology	1716	DGUOK	OMIM:251880
HP:0025032	Abnormality of digestive system physiology	788	SLC25A20	ORPHA:159
HP:0025032	Abnormality of digestive system physiology	56244	BTNL2	ORPHA:797
HP:0025032	Abnormality of digestive system physiology	8241	RBM10	OMIM:311900
HP:0025032	Abnormality of digestive system physiology	80270	HSD3B7	OMIM:607765
HP:0025032	Abnormality of digestive system physiology	51241	COX16	OMIM:619355
HP:0025032	Abnormality of digestive system physiology	570	BAAT	OMIM:619232
HP:0025032	Abnormality of digestive system physiology	54914	FOCAD	OMIM:619991
HP:0025032	Abnormality of digestive system physiology	8364	H4C3	OMIM:619758
HP:0025032	Abnormality of digestive system physiology	23600	AMACR	OMIM:214950
HP:0025032	Abnormality of digestive system physiology	378884	NHLRC1	ORPHA:501
HP:0025032	Abnormality of digestive system physiology	378884	NHLRC1	OMIM:254780
HP:0025032	Abnormality of digestive system physiology	7957	EPM2A	ORPHA:501
HP:0025032	Abnormality of digestive system physiology	7957	EPM2A	OMIM:254780
HP:0025032	Abnormality of digestive system physiology	3594	IL12RB1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	23534	TNPO3	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	6689	SPIB	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	5450	POU2AF1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	9966	TNFSF15	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	79258	MMEL1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	5106	PCK2	OMIM:261650
HP:0025032	Abnormality of digestive system physiology	182	JAG1	OMIM:118450
HP:0025032	Abnormality of digestive system physiology	28976	ACAD9	OMIM:611126
HP:0025032	Abnormality of digestive system physiology	6514	SLC2A2	ORPHA:2088
HP:0025032	Abnormality of digestive system physiology	540	ATP7B	OMIM:277900
HP:0025032	Abnormality of digestive system physiology	9076	CLDN1	OMIM:607626
HP:0025032	Abnormality of digestive system physiology	2658	GDF2	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	94	ACVRL1	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	2022	ENG	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	4351	MPI	OMIM:602579
HP:0025032	Abnormality of digestive system physiology	51081	MRPS7	OMIM:617872
HP:0025032	Abnormality of digestive system physiology	9652	SKIC3	OMIM:222470
HP:0025032	Abnormality of digestive system physiology	4724	NDUFS4	OMIM:252010
HP:0025032	Abnormality of digestive system physiology	29960	MRM2	OMIM:618567
HP:0025032	Abnormality of digestive system physiology	84317	CCDC115	OMIM:616828
HP:0025032	Abnormality of digestive system physiology	2184	FAH	OMIM:276700
HP:0025032	Abnormality of digestive system physiology	1376	CPT2	ORPHA:228305
HP:0025032	Abnormality of digestive system physiology	1376	CPT2	ORPHA:228308
HP:0025032	Abnormality of digestive system physiology	28962	OSTM1	OMIM:259720
HP:0025032	Abnormality of digestive system physiology	5825	ABCD3	OMIM:616278
HP:0025032	Abnormality of digestive system physiology	80169	CTC1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	26277	TINF2	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55651	NHP2	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	79650	USB1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55135	WRAP53	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55505	NOP10	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	1736	DKC1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	57410	SCYL1	OMIM:616719
HP:0025032	Abnormality of digestive system physiology	55670	PEX26	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	8504	PEX3	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	8799	PEX11B	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5190	PEX6	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5189	PEX1	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5194	PEX13	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5195	PEX14	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5192	PEX10	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5277	PIGA	OMIM:301072
HP:0025032	Abnormality of digestive system physiology	10159	ATP6AP2	OMIM:301045
HP:0025032	Abnormality of digestive system physiology	4570	MT-TN	OMIM:220110
HP:0025032	Abnormality of digestive system physiology	5551	PRF1	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	8676	STX11	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	201294	UNC13D	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	6813	STXBP2	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	22796	COG2	ORPHA:435934
HP:0025032	Abnormality of digestive system physiology	23395	LARS2	OMIM:617021
HP:0025032	Abnormality of digestive system physiology	51601	LIPT1	OMIM:616299
HP:0025032	Abnormality of digestive system physiology	55278	QRSL1	OMIM:618835
HP:0025032	Abnormality of digestive system physiology	644	BLVRA	OMIM:614156
HP:0025032	Abnormality of digestive system physiology	51649	MRPS23	OMIM:618952
HP:0025032	Abnormality of digestive system physiology	100506658	OCLN	OMIM:251290
HP:0025032	Abnormality of digestive system physiology	283459	GATC	OMIM:618839
HP:0025032	Abnormality of digestive system physiology	2954	GSTZ1	OMIM:617596
HP:0025032	Abnormality of digestive system physiology	125988	MICOS13	OMIM:618329
HP:0025032	Abnormality of digestive system physiology	130589	GALM	ORPHA:570422
HP:0025032	Abnormality of digestive system physiology	55005	RMND1	OMIM:614922
HP:0025032	Abnormality of digestive system physiology	147007	TMEM199	OMIM:616829
HP:0025032	Abnormality of digestive system physiology	1130	LYST	ORPHA:167
HP:0025032	Abnormality of digestive system physiology	23193	GANAB	OMIM:600666
HP:0025032	Abnormality of digestive system physiology	55532	SLC30A10	OMIM:613280
HP:0025032	Abnormality of digestive system physiology	8772	FADD	ORPHA:306550
HP:0025032	Abnormality of digestive system physiology	267010	RNU12	ORPHA:512260
HP:0025032	Abnormality of digestive system physiology	1594	CYP27B1	ORPHA:289157
HP:0025032	Abnormality of digestive system physiology	1594	CYP27B1	OMIM:264700
HP:0025032	Abnormality of digestive system physiology	120227	CYP2R1	ORPHA:289157
HP:0025032	Abnormality of digestive system physiology	579	NKX3-2	OMIM:613330
HP:0025032	Abnormality of digestive system physiology	23405	DICER1	OMIM:618272
HP:0025032	Abnormality of digestive system physiology	3636	INPPL1	OMIM:258480
HP:0025032	Abnormality of digestive system physiology	51098	IFT52	OMIM:617102
HP:0025032	Abnormality of digestive system physiology	23169	SLC35D1	OMIM:269250
HP:0025032	Abnormality of digestive system physiology	10020	GNE	OMIM:269921
HP:0025032	Abnormality of digestive system physiology	1302	COL11A2	OMIM:614524
HP:0025032	Abnormality of digestive system physiology	2317	FLNB	OMIM:108720
HP:0025032	Abnormality of digestive system physiology	5745	PTH1R	ORPHA:50945
HP:0025032	Abnormality of digestive system physiology	1301	COL11A1	OMIM:228520
HP:0025032	Abnormality of digestive system physiology	7421	VDR	OMIM:277440
HP:0025032	Abnormality of digestive system physiology	54808	DYM	ORPHA:239
HP:0025032	Abnormality of digestive system physiology	168667	BMPER	OMIM:608022
HP:0025032	Abnormality of digestive system physiology	54539	NDUFB11	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	51103	NDUFAF1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4716	NDUFB10	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4723	NDUFV1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4723	NDUFV1	OMIM:618225
HP:0025032	Abnormality of digestive system physiology	55572	FOXRED1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	55863	TMEM126B	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	55863	TMEM126B	OMIM:618250
HP:0025032	Abnormality of digestive system physiology	4729	NDUFV2	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4694	NDUFA1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4726	NDUFS6	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	79133	NDUFAF5	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	126328	NDUFA11	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4709	NDUFB3	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	80224	NUBPL	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	29078	NDUFAF4	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	374291	NDUFS7	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4715	NDUFB9	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	95	ACY1	ORPHA:137754
HP:0025032	Abnormality of digestive system physiology	84334	COA8	ORPHA:436271
HP:0025032	Abnormality of digestive system physiology	4522	MTHFD1	OMIM:617780
HP:0025032	Abnormality of digestive system physiology	4552	MTRR	ORPHA:2169
HP:0025032	Abnormality of digestive system physiology	55904	KMT2E	OMIM:618512
HP:0025032	Abnormality of digestive system physiology	3284	HSD3B2	ORPHA:90791
HP:0025032	Abnormality of digestive system physiology	8942	KYNU	OMIM:236800
HP:0025032	Abnormality of digestive system physiology	64087	MCCC2	OMIM:210210
HP:0025032	Abnormality of digestive system physiology	65998	ZFTA	ORPHA:251636
HP:0025032	Abnormality of digestive system physiology	5970	RELA	ORPHA:251636
HP:0025032	Abnormality of digestive system physiology	388962	BOLA3	OMIM:614299
HP:0025032	Abnormality of digestive system physiology	1591	CYP24A1	OMIM:143880
HP:0025032	Abnormality of digestive system physiology	84300	UQCC2	OMIM:615824
HP:0025032	Abnormality of digestive system physiology	7809	BSND	ORPHA:89938
HP:0025032	Abnormality of digestive system physiology	1187	CLCNKA	ORPHA:89938
HP:0025032	Abnormality of digestive system physiology	51594	NBAS	OMIM:616483
HP:0025032	Abnormality of digestive system physiology	4519	MT-CYB	ORPHA:137675
HP:0025032	Abnormality of digestive system physiology	440138	ALG11	OMIM:613661
HP:0025032	Abnormality of digestive system physiology	4488	MSX2	ORPHA:60015
HP:0025032	Abnormality of digestive system physiology	60529	ALX4	ORPHA:60015
HP:0025032	Abnormality of digestive system physiology	10516	FBLN5	ORPHA:90348
HP:0025032	Abnormality of digestive system physiology	445	ASS1	OMIM:215700
HP:0025032	Abnormality of digestive system physiology	2161	F12	OMIM:610618
HP:0025032	Abnormality of digestive system physiology	26275	HIBCH	ORPHA:88639
HP:0025032	Abnormality of digestive system physiology	4695	NDUFA2	OMIM:618235
HP:0025032	Abnormality of digestive system physiology	3767	KCNJ11	ORPHA:79134
HP:0025032	Abnormality of digestive system physiology	79731	NARS2	ORPHA:79134
HP:0025032	Abnormality of digestive system physiology	6833	ABCC8	ORPHA:79134
HP:0025032	Abnormality of digestive system physiology	6326	SCN2A	OMIM:618924
HP:0025032	Abnormality of digestive system physiology	29920	PYCR2	ORPHA:481152
HP:0025032	Abnormality of digestive system physiology	3712	IVD	OMIM:243500
HP:0025032	Abnormality of digestive system physiology	1583	CYP11A1	ORPHA:289548
HP:0025032	Abnormality of digestive system physiology	1583	CYP11A1	ORPHA:168558
HP:0025032	Abnormality of digestive system physiology	5903	RANBP2	ORPHA:88619
HP:0025032	Abnormality of digestive system physiology	51501	HIKESHI	OMIM:616881
HP:0025032	Abnormality of digestive system physiology	5019	OXCT1	OMIM:245050
HP:0025032	Abnormality of digestive system physiology	2819	GPD1	OMIM:614480
HP:0025032	Abnormality of digestive system physiology	1537	CYC1	OMIM:615453
HP:0025032	Abnormality of digestive system physiology	383	ARG1	OMIM:207800
HP:0025032	Abnormality of digestive system physiology	8139	GAN	OMIM:256850
HP:0025032	Abnormality of digestive system physiology	50617	ATP6V0A4	OMIM:602722
HP:0025032	Abnormality of digestive system physiology	3735	KARS1	OMIM:619147
HP:0025032	Abnormality of digestive system physiology	1373	CPS1	OMIM:237300
HP:0025032	Abnormality of digestive system physiology	27034	ACAD8	ORPHA:79159
HP:0025032	Abnormality of digestive system physiology	2582	GALE	OMIM:230350
HP:0025032	Abnormality of digestive system physiology	197322	ACSF3	OMIM:614265
HP:0025032	Abnormality of digestive system physiology	2072	ERCC4	ORPHA:90321
HP:0025032	Abnormality of digestive system physiology	5651	TMPRSS15	OMIM:226200
HP:0025032	Abnormality of digestive system physiology	790	CAD	OMIM:616457
HP:0025032	Abnormality of digestive system physiology	84936	ZFYVE19	OMIM:619849
HP:0025032	Abnormality of digestive system physiology	973	CD79A	OMIM:613501
HP:0025032	Abnormality of digestive system physiology	973	CD79A	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	2212	FCGR2A	OMIM:219700
HP:0025032	Abnormality of digestive system physiology	23495	TNFRSF13B	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	115650	TNFRSF13C	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	29851	ICOS	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	29851	ICOS	OMIM:607594
HP:0025032	Abnormality of digestive system physiology	930	CD19	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	55107	ANO1	OMIM:620045
HP:0025032	Abnormality of digestive system physiology	28755	TRAC	OMIM:615387
HP:0025032	Abnormality of digestive system physiology	50674	NEUROG3	OMIM:610370
HP:0025032	Abnormality of digestive system physiology	50674	NEUROG3	ORPHA:83620
HP:0025032	Abnormality of digestive system physiology	79053	ALG8	OMIM:608104
HP:0025032	Abnormality of digestive system physiology	79053	ALG8	ORPHA:79325
HP:0025032	Abnormality of digestive system physiology	1174	AP1S1	OMIM:609313
HP:0025032	Abnormality of digestive system physiology	1789	DNMT3B	OMIM:242860
HP:0025032	Abnormality of digestive system physiology	1621	DBH	ORPHA:230
HP:0025032	Abnormality of digestive system physiology	222546	RFX6	OMIM:615710
HP:0025032	Abnormality of digestive system physiology	9841	ZBTB24	OMIM:614069
HP:0025032	Abnormality of digestive system physiology	974	CD79B	OMIM:612692
HP:0025032	Abnormality of digestive system physiology	974	CD79B	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	4306	NR3C2	OMIM:177735
HP:0025032	Abnormality of digestive system physiology	51128	SAR1B	ORPHA:71
HP:0025032	Abnormality of digestive system physiology	51128	SAR1B	OMIM:246700
HP:0025032	Abnormality of digestive system physiology	2683	B4GALT1	ORPHA:79332
HP:0025032	Abnormality of digestive system physiology	38	ACAT1	ORPHA:134
HP:0025032	Abnormality of digestive system physiology	34	ACADM	ORPHA:42
HP:0025032	Abnormality of digestive system physiology	5122	PCSK1	OMIM:600955
HP:0025032	Abnormality of digestive system physiology	55739	NAXD	OMIM:618321
HP:0025032	Abnormality of digestive system physiology	326	AIRE	OMIM:240300
HP:0025032	Abnormality of digestive system physiology	8813	DPM1	ORPHA:79322
HP:0025032	Abnormality of digestive system physiology	10195	ALG3	OMIM:601110
HP:0025032	Abnormality of digestive system physiology	8694	DGAT1	OMIM:615863
HP:0025032	Abnormality of digestive system physiology	204	AK2	ORPHA:33355
HP:0025032	Abnormality of digestive system physiology	3078	CFHR1	OMIM:235400
HP:0025032	Abnormality of digestive system physiology	10878	CFHR3	OMIM:235400
HP:0025032	Abnormality of digestive system physiology	3543	IGLL1	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	29760	BLNK	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	56262	LRRC8A	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	6448	SGSH	OMIM:252900
HP:0025032	Abnormality of digestive system physiology	55388	MCM10	OMIM:619313
HP:0025032	Abnormality of digestive system physiology	6948	TCN2	OMIM:275350
HP:0025032	Abnormality of digestive system physiology	959	CD40LG	OMIM:308230
HP:0025032	Abnormality of digestive system physiology	9948	WDR1	OMIM:150550
HP:0025032	Abnormality of digestive system physiology	79631	EFL1	OMIM:617941
HP:0025032	Abnormality of digestive system physiology	9837	GINS1	OMIM:617827
HP:0025032	Abnormality of digestive system physiology	3938	LCT	OMIM:223000
HP:0025032	Abnormality of digestive system physiology	4128	MAOA	OMIM:300615
HP:0025032	Abnormality of digestive system physiology	22845	DOLK	OMIM:610768
HP:0025032	Abnormality of digestive system physiology	3431	SP110	ORPHA:79124
HP:0025032	Abnormality of digestive system physiology	3158	HMGCS2	OMIM:605911
HP:0025032	Abnormality of digestive system physiology	3172	HNF4A	ORPHA:263455
HP:0025032	Abnormality of digestive system physiology	3560	IL2RB	OMIM:618495
HP:0025032	Abnormality of digestive system physiology	175	AGA	OMIM:208400
HP:0025032	Abnormality of digestive system physiology	9401	RECQL4	OMIM:266280
HP:0025032	Abnormality of digestive system physiology	9401	RECQL4	ORPHA:221016
HP:0025032	Abnormality of digestive system physiology	79783	SUGCT	OMIM:231690
HP:0025032	Abnormality of digestive system physiology	374354	NHLRC2	OMIM:618278
HP:0025032	Abnormality of digestive system physiology	7482	WNT2B	OMIM:618168
HP:0025032	Abnormality of digestive system physiology	551	AVP	ORPHA:30925
HP:0025032	Abnormality of digestive system physiology	3458	IFNG	OMIM:618963
HP:0025032	Abnormality of digestive system physiology	138050	HGSNAT	OMIM:252930
HP:0025032	Abnormality of digestive system physiology	4669	NAGLU	OMIM:252920
HP:0025032	Abnormality of digestive system physiology	6584	SLC22A5	OMIM:212140
HP:0025032	Abnormality of digestive system physiology	64682	ANAPC1	ORPHA:221008
HP:0025032	Abnormality of digestive system physiology	2673	GFPT1	OMIM:608931
HP:0025032	Abnormality of digestive system physiology	1410	CRYAB	OMIM:608810
HP:0025032	Abnormality of digestive system physiology	1410	CRYAB	ORPHA:399058
HP:0025032	Abnormality of digestive system physiology	4287	ATXN3	OMIM:109150
HP:0025032	Abnormality of digestive system physiology	4287	ATXN3	ORPHA:276238
HP:0025032	Abnormality of digestive system physiology	4287	ATXN3	ORPHA:276244
HP:0025032	Abnormality of digestive system physiology	4287	ATXN3	ORPHA:276241
HP:0025032	Abnormality of digestive system physiology	55703	POLR3B	OMIM:614381
HP:0025032	Abnormality of digestive system physiology	55703	POLR3B	OMIM:607694
HP:0025032	Abnormality of digestive system physiology	23446	SLC44A1	OMIM:618868
HP:0025032	Abnormality of digestive system physiology	4593	MUSK	OMIM:616325
HP:0025032	Abnormality of digestive system physiology	2720	GLB1	OMIM:230600
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:247604
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:280384
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:209951
HP:0025032	Abnormality of digestive system physiology	9499	MYOT	ORPHA:266
HP:0025032	Abnormality of digestive system physiology	5339	PLEC	ORPHA:254361
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	ORPHA:99013
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	OMIM:607259
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	ORPHA:35689
HP:0025032	Abnormality of digestive system physiology	8291	DYSF	ORPHA:268
HP:0025032	Abnormality of digestive system physiology	6536	SLC6A9	OMIM:617301
HP:0025032	Abnormality of digestive system physiology	10528	NOP56	OMIM:614153
HP:0025032	Abnormality of digestive system physiology	10528	NOP56	ORPHA:276198
HP:0025032	Abnormality of digestive system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0025032	Abnormality of digestive system physiology	8575	PRKRA	ORPHA:210571
HP:0025032	Abnormality of digestive system physiology	8575	PRKRA	OMIM:612067
HP:0025032	Abnormality of digestive system physiology	348	APOE	OMIM:607822
HP:0025032	Abnormality of digestive system physiology	5663	PSEN1	OMIM:607822
HP:0025032	Abnormality of digestive system physiology	7343	UBTF	OMIM:617672
HP:0025032	Abnormality of digestive system physiology	7343	UBTF	ORPHA:500180
HP:0025032	Abnormality of digestive system physiology	10352	WARS2	OMIM:619738
HP:0025032	Abnormality of digestive system physiology	10352	WARS2	ORPHA:572798
HP:0025032	Abnormality of digestive system physiology	3064	HTT	OMIM:617435
HP:0025032	Abnormality of digestive system physiology	10939	AFG3L2	ORPHA:313772
HP:0025032	Abnormality of digestive system physiology	10939	AFG3L2	OMIM:614487
HP:0025032	Abnormality of digestive system physiology	83480	PUS3	ORPHA:488627
HP:0025032	Abnormality of digestive system physiology	10049	DNAJB6	ORPHA:34516
HP:0025032	Abnormality of digestive system physiology	10049	DNAJB6	OMIM:603511
HP:0025032	Abnormality of digestive system physiology	4620	MYH2	OMIM:605637
HP:0025032	Abnormality of digestive system physiology	10935	PRDX3	OMIM:619862
HP:0025032	Abnormality of digestive system physiology	246243	RNASEH1	OMIM:616479
HP:0025032	Abnormality of digestive system physiology	246243	RNASEH1	ORPHA:329336
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	ORPHA:2822
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	OMIM:604360
HP:0025032	Abnormality of digestive system physiology	8622	PDE8B	ORPHA:228169
HP:0025032	Abnormality of digestive system physiology	2911	GRM1	OMIM:617691
HP:0025032	Abnormality of digestive system physiology	55773	TBC1D23	OMIM:617695
HP:0025032	Abnormality of digestive system physiology	54902	TTC19	OMIM:615157
HP:0025032	Abnormality of digestive system physiology	2643	GCH1	OMIM:233910
HP:0025032	Abnormality of digestive system physiology	1180	CLCN1	OMIM:255700
HP:0025032	Abnormality of digestive system physiology	5860	QDPR	ORPHA:226
HP:0025032	Abnormality of digestive system physiology	5860	QDPR	OMIM:261630
HP:0025032	Abnormality of digestive system physiology	7750	ZMYM2	OMIM:619522
HP:0025032	Abnormality of digestive system physiology	56947	MFF	ORPHA:485421
HP:0025032	Abnormality of digestive system physiology	56947	MFF	OMIM:617086
HP:0025032	Abnormality of digestive system physiology	10342	TFG	ORPHA:90117
HP:0025032	Abnormality of digestive system physiology	57462	MYORG	OMIM:618317
HP:0025032	Abnormality of digestive system physiology	9562	MINPP1	OMIM:619527
HP:0025032	Abnormality of digestive system physiology	4626	MYH8	OMIM:158300
HP:0025032	Abnormality of digestive system physiology	1436	CSF1R	OMIM:221820
HP:0025032	Abnormality of digestive system physiology	5354	PLP1	OMIM:312080
HP:0025032	Abnormality of digestive system physiology	4123	MAN2C1	OMIM:619775
HP:0025032	Abnormality of digestive system physiology	339855	KY	OMIM:617114
HP:0025032	Abnormality of digestive system physiology	339855	KY	ORPHA:496689
HP:0025032	Abnormality of digestive system physiology	79977	GRHL2	OMIM:616029
HP:0025032	Abnormality of digestive system physiology	23499	MACF1	OMIM:618325
HP:0025032	Abnormality of digestive system physiology	23499	MACF1	ORPHA:572013
HP:0025032	Abnormality of digestive system physiology	2055	CLN8	ORPHA:1947
HP:0025032	Abnormality of digestive system physiology	5837	PYGM	ORPHA:368
HP:0025032	Abnormality of digestive system physiology	2512	FTL	ORPHA:157846
HP:0025032	Abnormality of digestive system physiology	2512	FTL	OMIM:606159
HP:0025032	Abnormality of digestive system physiology	10533	ATG7	OMIM:619422
HP:0025032	Abnormality of digestive system physiology	51117	COQ4	OMIM:616276
HP:0025032	Abnormality of digestive system physiology	120	ADD3	OMIM:617008
HP:0025032	Abnormality of digestive system physiology	5081	PAX7	OMIM:618578
HP:0025032	Abnormality of digestive system physiology	2639	GCDH	ORPHA:25
HP:0025032	Abnormality of digestive system physiology	353116	RILPL1	OMIM:619790
HP:0025032	Abnormality of digestive system physiology	2775	GNAO1	OMIM:617493
HP:0025032	Abnormality of digestive system physiology	56896	DPYSL5	OMIM:619435
HP:0025032	Abnormality of digestive system physiology	54892	NCAPG2	OMIM:618460
HP:0025032	Abnormality of digestive system physiology	79912	PYROXD1	OMIM:617258
HP:0025032	Abnormality of digestive system physiology	4719	NDUFS1	OMIM:618226
HP:0025032	Abnormality of digestive system physiology	4703	NEB	OMIM:256030
HP:0025032	Abnormality of digestive system physiology	4703	NEB	ORPHA:171433
HP:0025032	Abnormality of digestive system physiology	4703	NEB	ORPHA:171430
HP:0025032	Abnormality of digestive system physiology	91942	NDUFAF2	OMIM:618233
HP:0025032	Abnormality of digestive system physiology	81790	RNF170	OMIM:619686
HP:0025032	Abnormality of digestive system physiology	84909	AOPEP	OMIM:619565
HP:0025032	Abnormality of digestive system physiology	25814	ATXN10	OMIM:603516
HP:0025032	Abnormality of digestive system physiology	5649	RELN	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	10300	KATNB1	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	54820	NDE1	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	4722	NDUFS3	OMIM:618230
HP:0025032	Abnormality of digestive system physiology	387119	CEP85L	ORPHA:572013
HP:0025032	Abnormality of digestive system physiology	10059	DNM1L	ORPHA:98673
HP:0025032	Abnormality of digestive system physiology	65055	REEP1	ORPHA:101011
HP:0025032	Abnormality of digestive system physiology	65055	REEP1	OMIM:610250
HP:0025032	Abnormality of digestive system physiology	351	APP	ORPHA:324708
HP:0025032	Abnormality of digestive system physiology	56915	EXOSC5	OMIM:619576
HP:0025032	Abnormality of digestive system physiology	51132	RLIM	OMIM:300978
HP:0025032	Abnormality of digestive system physiology	10588	MTHFS	OMIM:618367
HP:0025032	Abnormality of digestive system physiology	4704	NDUFA9	OMIM:618247
HP:0025032	Abnormality of digestive system physiology	7170	TPM3	OMIM:609284
HP:0025032	Abnormality of digestive system physiology	7170	TPM3	ORPHA:171433
HP:0025032	Abnormality of digestive system physiology	7170	TPM3	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	7170	TPM3	OMIM:255310
HP:0025032	Abnormality of digestive system physiology	54834	GDAP2	OMIM:618369
HP:0025032	Abnormality of digestive system physiology	1201	CLN3	ORPHA:228346
HP:0025032	Abnormality of digestive system physiology	2131	EXT1	ORPHA:321
HP:0025032	Abnormality of digestive system physiology	51102	MECR	OMIM:617282
HP:0025032	Abnormality of digestive system physiology	51102	MECR	ORPHA:508093
HP:0025032	Abnormality of digestive system physiology	51324	SPG21	ORPHA:101001
HP:0025032	Abnormality of digestive system physiology	51324	SPG21	OMIM:248900
HP:0025032	Abnormality of digestive system physiology	5631	PRPS1	OMIM:301835
HP:0025032	Abnormality of digestive system physiology	2705	GJB1	OMIM:302800
HP:0025032	Abnormality of digestive system physiology	4761	NEUROD2	OMIM:618374
HP:0025032	Abnormality of digestive system physiology	4700	NDUFA6	OMIM:618253
HP:0025032	Abnormality of digestive system physiology	1200	TPP1	OMIM:609270
HP:0025032	Abnormality of digestive system physiology	220296	HEPACAM	OMIM:613925
HP:0025032	Abnormality of digestive system physiology	26040	SETBP1	ORPHA:798
HP:0025032	Abnormality of digestive system physiology	3028	HSD17B10	ORPHA:391428
HP:0025032	Abnormality of digestive system physiology	55975	KLHL7	OMIM:617055
HP:0025032	Abnormality of digestive system physiology	55697	VAC14	OMIM:617054
HP:0025032	Abnormality of digestive system physiology	2318	FLNC	ORPHA:63273
HP:0025032	Abnormality of digestive system physiology	29123	ANKRD11	ORPHA:261250
HP:0025032	Abnormality of digestive system physiology	23230	VPS13A	OMIM:200150
HP:0025032	Abnormality of digestive system physiology	23230	VPS13A	ORPHA:2388
HP:0025032	Abnormality of digestive system physiology	1893	ECM1	ORPHA:530
HP:0025032	Abnormality of digestive system physiology	10273	STUB1	ORPHA:412057
HP:0025032	Abnormality of digestive system physiology	10273	STUB1	OMIM:618093
HP:0025032	Abnormality of digestive system physiology	84081	NSRP1	OMIM:620001
HP:0025032	Abnormality of digestive system physiology	1678	TIMM8A	ORPHA:52368
HP:0025032	Abnormality of digestive system physiology	1678	TIMM8A	OMIM:304700
HP:0025032	Abnormality of digestive system physiology	4914	NTRK1	ORPHA:642
HP:0025032	Abnormality of digestive system physiology	64432	MRPS25	OMIM:619025
HP:0025032	Abnormality of digestive system physiology	84842	HPDL	OMIM:619027
HP:0025032	Abnormality of digestive system physiology	80308	FLAD1	OMIM:255100
HP:0025032	Abnormality of digestive system physiology	5111	PCNA	OMIM:615919
HP:0025032	Abnormality of digestive system physiology	4758	NEU1	ORPHA:93399
HP:0025032	Abnormality of digestive system physiology	79581	SLC52A2	OMIM:614707
HP:0025032	Abnormality of digestive system physiology	10324	KLHL41	ORPHA:171433
HP:0025032	Abnormality of digestive system physiology	10324	KLHL41	ORPHA:171430
HP:0025032	Abnormality of digestive system physiology	131377	KLHL40	ORPHA:171430
HP:0025032	Abnormality of digestive system physiology	131377	KLHL40	OMIM:615348
HP:0025032	Abnormality of digestive system physiology	56203	LMOD3	ORPHA:171430
HP:0025032	Abnormality of digestive system physiology	271	AMPD2	OMIM:615809
HP:0025032	Abnormality of digestive system physiology	2483	FRG1	OMIM:158900
HP:0025032	Abnormality of digestive system physiology	64207	IRF2BPL	OMIM:618088
HP:0025032	Abnormality of digestive system physiology	29967	LRP12	OMIM:164310
HP:0025032	Abnormality of digestive system physiology	26278	SACS	ORPHA:98
HP:0025032	Abnormality of digestive system physiology	57190	SELENON	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	4633	MYL2	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	3679	ITGA7	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	9200	HACD1	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	51776	MAP3K20	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	79152	FA2H	ORPHA:329308
HP:0025032	Abnormality of digestive system physiology	23400	ATP13A2	ORPHA:306674
HP:0025032	Abnormality of digestive system physiology	23400	ATP13A2	OMIM:606693
HP:0025032	Abnormality of digestive system physiology	1600	DAB1	OMIM:615945
HP:0025032	Abnormality of digestive system physiology	113278	SLC52A3	OMIM:211530
HP:0025032	Abnormality of digestive system physiology	113278	SLC52A3	OMIM:211500
HP:0025032	Abnormality of digestive system physiology	2395	FXN	ORPHA:95
HP:0025032	Abnormality of digestive system physiology	23533	PIK3R5	ORPHA:64753
HP:0025032	Abnormality of digestive system physiology	23064	SETX	ORPHA:64753
HP:0025032	Abnormality of digestive system physiology	23064	SETX	OMIM:606002
HP:0025032	Abnormality of digestive system physiology	3211	HOXB1	OMIM:614744
HP:0025032	Abnormality of digestive system physiology	146057	TTBK2	ORPHA:98767
HP:0025032	Abnormality of digestive system physiology	3748	KCNC3	ORPHA:98768
HP:0025032	Abnormality of digestive system physiology	11128	POLR3A	OMIM:264090
HP:0025032	Abnormality of digestive system physiology	11128	POLR3A	ORPHA:447896
HP:0025032	Abnormality of digestive system physiology	11128	POLR3A	OMIM:607694
HP:0025032	Abnormality of digestive system physiology	80704	SLC19A3	OMIM:607483
HP:0025032	Abnormality of digestive system physiology	724066	ATXN8	ORPHA:98760
HP:0025032	Abnormality of digestive system physiology	724066	ATXN8	OMIM:608768
HP:0025032	Abnormality of digestive system physiology	492	ATP2B3	OMIM:302500
HP:0025032	Abnormality of digestive system physiology	3251	HPRT1	OMIM:300322
HP:0025032	Abnormality of digestive system physiology	3208	HPCA	OMIM:224500
HP:0025032	Abnormality of digestive system physiology	10280	SIGMAR1	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	255928	SYT14	ORPHA:284271
HP:0025032	Abnormality of digestive system physiology	255928	SYT14	OMIM:614229
HP:0025032	Abnormality of digestive system physiology	9440	MED17	OMIM:613668
HP:0025032	Abnormality of digestive system physiology	2255	FGF10	ORPHA:2363
HP:0025032	Abnormality of digestive system physiology	8106	PABPN1	OMIM:164300
HP:0025032	Abnormality of digestive system physiology	6310	ATXN1	ORPHA:98755
HP:0025032	Abnormality of digestive system physiology	6310	ATXN1	OMIM:164400
HP:0025032	Abnormality of digestive system physiology	91574	MTRFR	OMIM:613559
HP:0025032	Abnormality of digestive system physiology	85021	REPS1	OMIM:617916
HP:0025032	Abnormality of digestive system physiology	3752	KCND3	OMIM:607346
HP:0025032	Abnormality of digestive system physiology	6314	ATXN7	ORPHA:94147
HP:0025032	Abnormality of digestive system physiology	6314	ATXN7	OMIM:164500
HP:0025032	Abnormality of digestive system physiology	2776	GNAQ	ORPHA:3205
HP:0025032	Abnormality of digestive system physiology	25793	FBXO7	ORPHA:171695
HP:0025032	Abnormality of digestive system physiology	51067	YARS2	OMIM:613561
HP:0025032	Abnormality of digestive system physiology	80199	FUZ	ORPHA:1136
HP:0025032	Abnormality of digestive system physiology	7407	VARS1	OMIM:617802
HP:0025032	Abnormality of digestive system physiology	10382	TUBB4A	OMIM:128101
HP:0025032	Abnormality of digestive system physiology	10382	TUBB4A	ORPHA:98805
HP:0025032	Abnormality of digestive system physiology	1861	TOR1A	OMIM:128100
HP:0025032	Abnormality of digestive system physiology	54704	PDP1	OMIM:608782
HP:0025032	Abnormality of digestive system physiology	55906	ZC4H2	OMIM:301041
HP:0025032	Abnormality of digestive system physiology	2982	GUCY1A1	OMIM:615750
HP:0025032	Abnormality of digestive system physiology	29926	GMPPA	OMIM:615510
HP:0025032	Abnormality of digestive system physiology	57704	GBA2	ORPHA:352641
HP:0025032	Abnormality of digestive system physiology	79587	CARS2	ORPHA:477774
HP:0025032	Abnormality of digestive system physiology	2782	GNB1	OMIM:616973
HP:0025032	Abnormality of digestive system physiology	79644	SRD5A3	OMIM:612379
HP:0025032	Abnormality of digestive system physiology	25953	PNKD	OMIM:118800
HP:0025032	Abnormality of digestive system physiology	2917	GRM7	OMIM:618922
HP:0025032	Abnormality of digestive system physiology	5582	PRKCG	OMIM:605361
HP:0025032	Abnormality of digestive system physiology	3418	IDH2	ORPHA:163634
HP:0025032	Abnormality of digestive system physiology	79784	MYH14	ORPHA:397744
HP:0025032	Abnormality of digestive system physiology	84617	TUBB6	OMIM:617732
HP:0025032	Abnormality of digestive system physiology	2670	GFAP	ORPHA:363722
HP:0025032	Abnormality of digestive system physiology	2670	GFAP	ORPHA:363717
HP:0025032	Abnormality of digestive system physiology	122553	TRAPPC6B	OMIM:617862
HP:0025032	Abnormality of digestive system physiology	28957	MRPS28	OMIM:618958
HP:0025032	Abnormality of digestive system physiology	51	ACOX1	OMIM:264470
HP:0025032	Abnormality of digestive system physiology	51	ACOX1	OMIM:618960
HP:0025032	Abnormality of digestive system physiology	10577	NPC2	OMIM:607625
HP:0025032	Abnormality of digestive system physiology	8913	CACNA1G	ORPHA:458803
HP:0025032	Abnormality of digestive system physiology	8913	CACNA1G	OMIM:616795
HP:0025032	Abnormality of digestive system physiology	22943	DKK1	ORPHA:268882
HP:0025032	Abnormality of digestive system physiology	7515	XRCC1	OMIM:617633
HP:0025032	Abnormality of digestive system physiology	4359	MPZ	OMIM:607736
HP:0025032	Abnormality of digestive system physiology	4747	NEFL	OMIM:607734
HP:0025032	Abnormality of digestive system physiology	367	AR	OMIM:313200
HP:0025032	Abnormality of digestive system physiology	4594	MMUT	ORPHA:289916
HP:0025032	Abnormality of digestive system physiology	4594	MMUT	ORPHA:79312
HP:0025032	Abnormality of digestive system physiology	1776	DNASE1L3	ORPHA:36412
HP:0025032	Abnormality of digestive system physiology	3655	ITGA6	ORPHA:79403
HP:0025032	Abnormality of digestive system physiology	3691	ITGB4	ORPHA:79403
HP:0025032	Abnormality of digestive system physiology	4609	MYC	ORPHA:543
HP:0025032	Abnormality of digestive system physiology	2130	EWSR1	ORPHA:83469
HP:0025032	Abnormality of digestive system physiology	7490	WT1	ORPHA:83469
HP:0025032	Abnormality of digestive system physiology	64072	CDH23	ORPHA:2965
HP:0025032	Abnormality of digestive system physiology	64072	CDH23	ORPHA:91347
HP:0025032	Abnormality of digestive system physiology	9049	AIP	ORPHA:2965
HP:0025032	Abnormality of digestive system physiology	5053	PAH	ORPHA:79254
HP:0025032	Abnormality of digestive system physiology	3106	HLA-B	ORPHA:36426
HP:0025032	Abnormality of digestive system physiology	3106	HLA-B	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	10320	IKZF1	ORPHA:36426
HP:0025032	Abnormality of digestive system physiology	114548	NLRP3	ORPHA:47045
HP:0025032	Abnormality of digestive system physiology	114548	NLRP3	ORPHA:1451
HP:0025032	Abnormality of digestive system physiology	3141	HLCS	ORPHA:79242
HP:0025032	Abnormality of digestive system physiology	285282	RABL3	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	675	BRCA2	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	1029	CDKN2A	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	79728	PALB2	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	4089	SMAD4	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	23022	PALLD	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	5873	RAB27A	ORPHA:79477
HP:0025032	Abnormality of digestive system physiology	1499	CTNNB1	ORPHA:54595
HP:0025032	Abnormality of digestive system physiology	8314	BAP1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	4771	NF2	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6598	SMARCB1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6598	SMARCB1	ORPHA:99966
HP:0025032	Abnormality of digestive system physiology	5155	PDGFB	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	84231	TRAF7	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	207	AKT1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	51684	SUFU	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6605	SMARCE1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6049	RNF6	ORPHA:99977
HP:0025032	Abnormality of digestive system physiology	9940	DLEC1	ORPHA:99977
HP:0025032	Abnormality of digestive system physiology	1493	CTLA4	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	26191	PTPN22	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	3115	HLA-DPB1	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	5657	PRTN3	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	3113	HLA-DPA1	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	2624	GATA2	ORPHA:3226
HP:0025032	Abnormality of digestive system physiology	57570	TRMT5	OMIM:616539
HP:0025032	Abnormality of digestive system physiology	3988	LIPA	ORPHA:75233
HP:0025032	Abnormality of digestive system physiology	3988	LIPA	ORPHA:75234
HP:0025032	Abnormality of digestive system physiology	25978	CHMP2B	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	3178	HNRNPA1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	8148	TAF15	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5445	PON2	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	9217	VAPB	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	8878	SQSTM1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5630	PRPH	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	29110	TBK1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	29110	TBK1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	55830	GLT8D1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	755	CFAP410	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	10891	PPARGC1A	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	6647	SOD1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	10133	OPTN	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1639	DCTN1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	9896	FIG4	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5444	PON1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5446	PON3	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	4744	NEFH	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5216	PFN1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	9782	MATR3	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	54209	TREM2	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	7415	VCP	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	283	ANG	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	23435	TARDBP	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	29978	UBQLN2	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	2733	GLE1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	2521	FUS	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	4750	NEK1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	2043	EPHA4	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1610	DAO	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	2066	ERBB4	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	311	ANXA11	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	23025	UNC13A	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	899	CCNF	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	400916	CHCHD10	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1616	DAXX	ORPHA:100075
HP:0025032	Abnormality of digestive system physiology	5728	PTEN	ORPHA:65285
HP:0025032	Abnormality of digestive system physiology	149233	IL23R	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	6775	STAT4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3586	IL10	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	1230	CCR1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	355	FAS	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3592	IL12A	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	7099	TLR4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3459	IFNGR1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	720	C4A	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	337867	UBAC2	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	51752	ERAP1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	8302	KLRC4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	7187	TRAF3	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	81622	UNC93B1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	148022	TICAM1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	7098	TLR3	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	229	ALDOB	OMIM:229600
HP:0025032	Abnormality of digestive system physiology	229	ALDOB	ORPHA:469
HP:0025032	Abnormality of digestive system physiology	54790	TET2	ORPHA:98849
HP:0025032	Abnormality of digestive system physiology	3815	KIT	ORPHA:98849
HP:0025032	Abnormality of digestive system physiology	3815	KIT	ORPHA:79455
HP:0025032	Abnormality of digestive system physiology	6427	SRSF2	ORPHA:98849
HP:0025032	Abnormality of digestive system physiology	324	APC	ORPHA:99818
HP:0025032	Abnormality of digestive system physiology	6261	RYR1	ORPHA:466650
HP:0025032	Abnormality of digestive system physiology	56606	SLC2A9	ORPHA:94088
HP:0025032	Abnormality of digestive system physiology	116085	SLC22A12	ORPHA:94088
HP:0025032	Abnormality of digestive system physiology	4023	LPL	OMIM:238600
HP:0025032	Abnormality of digestive system physiology	5314	PKHD1	ORPHA:53035
HP:0025032	Abnormality of digestive system physiology	92667	MGME1	OMIM:615084
HP:0025032	Abnormality of digestive system physiology	92667	MGME1	ORPHA:352447
HP:0025032	Abnormality of digestive system physiology	6507	SLC1A3	OMIM:612656
HP:0025032	Abnormality of digestive system physiology	3736	KCNA1	ORPHA:37612
HP:0025032	Abnormality of digestive system physiology	710	SERPING1	ORPHA:100050
HP:0025032	Abnormality of digestive system physiology	6331	SCN5A	ORPHA:1344
HP:0025032	Abnormality of digestive system physiology	4878	NPPA	ORPHA:1344
HP:0025032	Abnormality of digestive system physiology	7157	TP53	OMIM:260500
HP:0025032	Abnormality of digestive system physiology	5257	PHKB	ORPHA:79240
HP:0025032	Abnormality of digestive system physiology	2492	FSHR	OMIM:608115
HP:0025032	Abnormality of digestive system physiology	2492	FSHR	ORPHA:64739
HP:0025032	Abnormality of digestive system physiology	7428	VHL	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	7428	VHL	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	1788	DNMT3A	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	2034	EPAS1	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	6392	SDHD	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	6392	SDHD	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	6390	SDHB	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	6390	SDHB	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	9056	SLC7A7	OMIM:222700
HP:0025032	Abnormality of digestive system physiology	776	CACNA1D	ORPHA:369929
HP:0025032	Abnormality of digestive system physiology	54832	VPS13C	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	11315	PARK7	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	7345	UCHL1	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	27429	HTRA2	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	120892	LRRK2	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	9829	DNAJC6	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	6622	SNCA	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	5420	PODXL	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	65018	PINK1	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	5071	PRKN	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	5498	PPOX	ORPHA:79473
HP:0025032	Abnormality of digestive system physiology	10068	IL18BP	OMIM:618549
HP:0025032	Abnormality of digestive system physiology	1743	DLST	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	4191	MDH2	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	6389	SDHA	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	23095	KIF1B	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	2271	FH	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	8402	SLC25A11	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	54949	SDHAF2	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	55654	TMEM127	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	4763	NF1	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	6391	SDHC	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	4149	MAX	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	2099	ESR1	OMIM:157300
HP:0025032	Abnormality of digestive system physiology	7124	TNF	OMIM:157300
HP:0025032	Abnormality of digestive system physiology	6288	SAA1	ORPHA:85445
HP:0025032	Abnormality of digestive system physiology	3075	CFH	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	3426	CFI	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	4179	CD46	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	101101692	HELLPAR	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	3145	HMBS	OMIM:176000
HP:0025032	Abnormality of digestive system physiology	210	ALAD	ORPHA:100924
HP:0025032	Abnormality of digestive system physiology	11330	CTRC	ORPHA:103918
HP:0025032	Abnormality of digestive system physiology	6690	SPINK1	ORPHA:103918
HP:0025032	Abnormality of digestive system physiology	2717	GLA	OMIM:301500
HP:0025032	Abnormality of digestive system physiology	162417	NAGS	ORPHA:927
HP:0025032	Abnormality of digestive system physiology	1181	CLCN2	ORPHA:404
HP:0025032	Abnormality of digestive system physiology	1584	CYP11B1	ORPHA:403
HP:0025032	Abnormality of digestive system physiology	1585	CYP11B2	ORPHA:403
HP:0025032	Abnormality of digestive system physiology	5256	PHKA2	ORPHA:264580
HP:0025032	Abnormality of digestive system physiology	5261	PHKG2	ORPHA:264580
HP:0025032	Abnormality of digestive system physiology	1371	CPOX	ORPHA:79273
HP:0025032	Abnormality of digestive system physiology	3762	KCNJ5	ORPHA:251274
HP:0025032	Abnormality of digestive system physiology	2108	ETFA	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	2109	ETFB	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	2110	ETFDH	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	6535	SLC6A8	OMIM:300352
HP:0025032	Abnormality of digestive system physiology	6535	SLC6A8	ORPHA:52503
HP:0025032	Abnormality of digestive system physiology	9860	LRIG2	OMIM:615112
HP:0025032	Abnormality of digestive system physiology	9860	LRIG2	ORPHA:2704
HP:0025032	Abnormality of digestive system physiology	55823	VPS11	OMIM:616683
HP:0025032	Abnormality of digestive system physiology	55823	VPS11	ORPHA:466934
HP:0025032	Abnormality of digestive system physiology	4010	LMX1B	ORPHA:2614
HP:0025032	Abnormality of digestive system physiology	4010	LMX1B	ORPHA:495818
HP:0025032	Abnormality of digestive system physiology	23417	MLYCD	OMIM:248360
HP:0025032	Abnormality of digestive system physiology	5457	POU4F1	ORPHA:314647
HP:0025032	Abnormality of digestive system physiology	1131	CHRM3	ORPHA:2970
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	OMIM:235730
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	ORPHA:261552
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	ORPHA:261537
HP:0025032	Abnormality of digestive system physiology	3909	LAMA3	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	3918	LAMC2	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	3914	LAMB3	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	4072	EPCAM	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	4292	MLH1	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5395	PMS2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	27030	MLH3	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	22909	FAN1	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	7048	TGFBR2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	3845	KRAS	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5290	PIK3CA	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	2956	MSH6	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5378	PMS1	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	4436	MSH2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	215	ABCD1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2668	GDNF	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	6608	SMO	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1889	ECE1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	6720	SREBF1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1908	EDN3	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1908	EDN3	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	223117	SEMA3D	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1910	EDNRB	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1910	EDNRB	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	10512	SEMA3C	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2064	ERBB2	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2065	ERBB3	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	4902	NRTN	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	OMIM:218700
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95720
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95712
HP:0025032	Abnormality of digestive system physiology	3074	HEXB	ORPHA:309162
HP:0025032	Abnormality of digestive system physiology	79577	CDC73	ORPHA:143
HP:0025032	Abnormality of digestive system physiology	79577	CDC73	ORPHA:99880
HP:0025032	Abnormality of digestive system physiology	249	ALPL	OMIM:241500
HP:0025032	Abnormality of digestive system physiology	89910	UBE3B	OMIM:244450
HP:0025032	Abnormality of digestive system physiology	64218	SEMA4A	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	657	BMPR1A	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	6224	RPS20	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	6812	STXBP1	ORPHA:495818
HP:0025032	Abnormality of digestive system physiology	672	BRCA1	ORPHA:168829
HP:0025032	Abnormality of digestive system physiology	10730	YME1L1	OMIM:617302
HP:0025032	Abnormality of digestive system physiology	3508	IGHMBP2	OMIM:604320
HP:0025032	Abnormality of digestive system physiology	7253	TSHR	ORPHA:90673
HP:0025032	Abnormality of digestive system physiology	7253	TSHR	ORPHA:95720
HP:0025032	Abnormality of digestive system physiology	7253	TSHR	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	7252	TSHB	ORPHA:90674
HP:0025032	Abnormality of digestive system physiology	55650	PIGV	OMIM:239300
HP:0025032	Abnormality of digestive system physiology	8029	CUBN	ORPHA:35858
HP:0025032	Abnormality of digestive system physiology	81693	AMN	ORPHA:35858
HP:0025032	Abnormality of digestive system physiology	1896	EDA	OMIM:305100
HP:0025032	Abnormality of digestive system physiology	2590	GALNT2	OMIM:618885
HP:0025032	Abnormality of digestive system physiology	113189	CHST14	ORPHA:2953
HP:0025032	Abnormality of digestive system physiology	113189	CHST14	OMIM:601776
HP:0025032	Abnormality of digestive system physiology	29940	DSE	ORPHA:2953
HP:0025032	Abnormality of digestive system physiology	8398	PLA2G6	ORPHA:35069
HP:0025032	Abnormality of digestive system physiology	5621	PRNP	OMIM:600072
HP:0025032	Abnormality of digestive system physiology	7276	TTR	OMIM:105210
HP:0025032	Abnormality of digestive system physiology	7276	TTR	ORPHA:85447
HP:0025032	Abnormality of digestive system physiology	5095	PCCA	OMIM:606054
HP:0025032	Abnormality of digestive system physiology	5095	PCCA	ORPHA:35
HP:0025032	Abnormality of digestive system physiology	5096	PCCB	OMIM:606054
HP:0025032	Abnormality of digestive system physiology	5096	PCCB	ORPHA:35
HP:0025032	Abnormality of digestive system physiology	5442	POLRMT	OMIM:619743
HP:0025032	Abnormality of digestive system physiology	57178	ZMIZ1	OMIM:618659
HP:0025032	Abnormality of digestive system physiology	60495	HPSE2	ORPHA:2704
HP:0025032	Abnormality of digestive system physiology	60495	HPSE2	OMIM:236730
HP:0025032	Abnormality of digestive system physiology	27235	COQ2	ORPHA:98933
HP:0025032	Abnormality of digestive system physiology	27235	COQ2	ORPHA:227510
HP:0025032	Abnormality of digestive system physiology	330	BIRC3	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	10892	MALT1	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	27086	FOXP1	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	27086	FOXP1	ORPHA:391372
HP:0025032	Abnormality of digestive system physiology	3492	IGH	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	8915	BCL10	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	57680	CHD8	OMIM:615032
HP:0025032	Abnormality of digestive system physiology	23259	DDHD2	OMIM:615033
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:90695
HP:0025032	Abnormality of digestive system physiology	89884	LHX4	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	89884	LHX4	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8022	LHX3	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5449	POU1F1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5449	POU1F1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	6023	RMRP	OMIM:250250
HP:0025032	Abnormality of digestive system physiology	285175	UNC80	OMIM:616801
HP:0025032	Abnormality of digestive system physiology	285175	UNC80	ORPHA:371364
HP:0025032	Abnormality of digestive system physiology	493856	CISD2	ORPHA:3463
HP:0025032	Abnormality of digestive system physiology	7466	WFS1	ORPHA:3463
HP:0025032	Abnormality of digestive system physiology	6638	SNRPN	OMIM:105830
HP:0025032	Abnormality of digestive system physiology	7337	UBE3A	OMIM:105830
HP:0025032	Abnormality of digestive system physiology	7337	UBE3A	ORPHA:98794
HP:0025032	Abnormality of digestive system physiology	100134444	KCNJ18	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	2556	GABRA3	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	779	CACNA1S	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	4567	MT-TL1	ORPHA:225
HP:0025032	Abnormality of digestive system physiology	4567	MT-TL1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4556	MT-TE	ORPHA:225
HP:0025032	Abnormality of digestive system physiology	4566	MT-TK	ORPHA:225
HP:0025032	Abnormality of digestive system physiology	6609	SMPD1	OMIM:257200
HP:0025032	Abnormality of digestive system physiology	4210	MEFV	ORPHA:342
HP:0025032	Abnormality of digestive system physiology	554	AVPR2	ORPHA:223
HP:0025032	Abnormality of digestive system physiology	554	AVPR2	OMIM:304800
HP:0025032	Abnormality of digestive system physiology	359	AQP2	ORPHA:223
HP:0025032	Abnormality of digestive system physiology	359	AQP2	OMIM:125800
HP:0025032	Abnormality of digestive system physiology	3170	FOXA2	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5015	OTX2	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5015	OTX2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	6942	TCF20	OMIM:618430
HP:0025032	Abnormality of digestive system physiology	4665	NAB2	ORPHA:2126
HP:0025032	Abnormality of digestive system physiology	6778	STAT6	ORPHA:2126
HP:0025032	Abnormality of digestive system physiology	50506	DUOX2	ORPHA:226316
HP:0025032	Abnormality of digestive system physiology	50506	DUOX2	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	9409	PEX16	OMIM:614877
HP:0025032	Abnormality of digestive system physiology	2678	GGT1	OMIM:231950
HP:0025032	Abnormality of digestive system physiology	6528	SLC5A5	OMIM:274400
HP:0025032	Abnormality of digestive system physiology	6528	SLC5A5	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	84978	FRMD5	OMIM:620094
HP:0025032	Abnormality of digestive system physiology	81839	VANGL1	OMIM:600145
HP:0025032	Abnormality of digestive system physiology	56246	MRAP	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	6770	STAR	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	4158	MC2R	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	23530	NNT	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	10587	TXNRD2	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	51142	CHCHD2	OMIM:616710
HP:0025032	Abnormality of digestive system physiology	284119	CAVIN1	OMIM:613327
HP:0025032	Abnormality of digestive system physiology	57165	GJC2	OMIM:613206
HP:0025032	Abnormality of digestive system physiology	4001	LMNB1	ORPHA:99027
HP:0025032	Abnormality of digestive system physiology	4001	LMNB1	OMIM:169500
HP:0025032	Abnormality of digestive system physiology	1188	CLCNKB	ORPHA:358
HP:0025032	Abnormality of digestive system physiology	6559	SLC12A3	ORPHA:358
HP:0025032	Abnormality of digestive system physiology	6559	SLC12A3	OMIM:263800
HP:0025032	Abnormality of digestive system physiology	846	CASR	OMIM:239200
HP:0025032	Abnormality of digestive system physiology	6658	SOX3	ORPHA:90695
HP:0025032	Abnormality of digestive system physiology	6658	SOX3	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	4558	MT-TF	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4572	MT-TQ	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4512	MT-CO1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4513	MT-CO2	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4514	MT-CO3	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4578	MT-TW	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4540	MT-ND5	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4541	MT-ND6	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4535	MT-ND1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4538	MT-ND4	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4574	MT-TS1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4575	MT-TS2	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4564	MT-TH	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4803	NGF	OMIM:608654
HP:0025032	Abnormality of digestive system physiology	9256	TSPOAP1	ORPHA:101150
HP:0025032	Abnormality of digestive system physiology	7054	TH	ORPHA:101150
HP:0025032	Abnormality of digestive system physiology	23028	KDM1A	OMIM:616728
HP:0025032	Abnormality of digestive system physiology	7200	TRH	OMIM:275120
HP:0025032	Abnormality of digestive system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0025032	Abnormality of digestive system physiology	4286	MITF	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	6663	SOX10	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	6663	SOX10	ORPHA:163746
HP:0025032	Abnormality of digestive system physiology	5172	SLC26A4	ORPHA:95720
HP:0025032	Abnormality of digestive system physiology	5172	SLC26A4	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	4948	OCA2	ORPHA:98794
HP:0025032	Abnormality of digestive system physiology	1725	DHPS	OMIM:618480
HP:0025032	Abnormality of digestive system physiology	405753	DUOXA2	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7038	TG	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7173	TPO	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	389434	IYD	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7080	NKX2-1	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	1482	NKX2-5	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	1482	NKX2-5	ORPHA:95712
HP:0025032	Abnormality of digestive system physiology	2304	FOXE1	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	11280	SCN11A	ORPHA:46348
HP:0025032	Abnormality of digestive system physiology	11280	SCN11A	OMIM:615548
HP:0025032	Abnormality of digestive system physiology	6336	SCN10A	ORPHA:46348
HP:0025032	Abnormality of digestive system physiology	6557	SLC12A1	OMIM:601678
HP:0025032	Abnormality of digestive system physiology	23111	SPART	ORPHA:101000
HP:0025032	Abnormality of digestive system physiology	6907	TBL1X	OMIM:301033
HP:0025032	Abnormality of digestive system physiology	54681	P4HTM	OMIM:618493
HP:0025032	Abnormality of digestive system physiology	3758	KCNJ1	OMIM:241200
HP:0025032	Abnormality of digestive system physiology	7067	THRA	OMIM:614450
HP:0025032	Abnormality of digestive system physiology	2313	FLI1	ORPHA:2308
HP:0025032	Abnormality of digestive system physiology	5977	DPF2	OMIM:618027
HP:0025032	Abnormality of digestive system physiology	94005	PIGS	OMIM:618143
HP:0025032	Abnormality of digestive system physiology	6711	SPTBN1	OMIM:619475
HP:0025032	Abnormality of digestive system physiology	1497	CTNS	ORPHA:411629
HP:0025032	Abnormality of digestive system physiology	1457	CSNK2A1	OMIM:617062
HP:0025032	Abnormality of digestive system physiology	2222	FDFT1	OMIM:618156
HP:0025032	Abnormality of digestive system physiology	1674	DES	OMIM:601419
HP:0025032	Abnormality of digestive system physiology	55164	SHQ1	OMIM:619922
HP:0025032	Abnormality of digestive system physiology	51339	DACT1	ORPHA:857
HP:0025032	Abnormality of digestive system physiology	23387	SIK3	OMIM:618162
HP:0025032	Abnormality of digestive system physiology	6904	TBCD	OMIM:617193
HP:0025032	Abnormality of digestive system physiology	5156	PDGFRA	ORPHA:44890
HP:0025032	Abnormality of digestive system physiology	738	VPS51	OMIM:618606
HP:0025032	Abnormality of digestive system physiology	6340	SCNN1G	ORPHA:526
HP:0025032	Abnormality of digestive system physiology	6338	SCNN1B	ORPHA:526
HP:0025032	Abnormality of digestive system physiology	6337	SCNN1A	ORPHA:526
HP:0025032	Abnormality of digestive system physiology	10225	CD96	ORPHA:1308
HP:0025032	Abnormality of digestive system physiology	11011	TLK2	OMIM:618050
HP:0025032	Abnormality of digestive system physiology	2747	GLUD2	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	126	ADH1C	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4137	MAPT	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4929	NR4A2	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6908	TBP	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4576	MT-TT	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	9627	SNCAIP	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6311	ATXN2	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6315	ATXN8OS	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	128674	PROKR2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	6657	SOX2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	23394	ADNP	ORPHA:404448
HP:0025032	Abnormality of digestive system physiology	23394	ADNP	OMIM:615873
HP:0025032	Abnormality of digestive system physiology	26235	FBXL4	OMIM:615471
HP:0025032	Abnormality of digestive system physiology	8367	H4C5	OMIM:619950
HP:0025032	Abnormality of digestive system physiology	340533	NEXMIF	OMIM:300912
HP:0025032	Abnormality of digestive system physiology	340533	NEXMIF	ORPHA:85277
HP:0025032	Abnormality of digestive system physiology	57128	LYRM4	OMIM:615595
HP:0025032	Abnormality of digestive system physiology	2132	EXT2	OMIM:616682
HP:0025032	Abnormality of digestive system physiology	2132	EXT2	ORPHA:466926
HP:0025032	Abnormality of digestive system physiology	8518	ELP1	ORPHA:1764
HP:0025032	Abnormality of digestive system physiology	8518	ELP1	OMIM:223900
HP:0025032	Abnormality of digestive system physiology	8425	LTBP4	OMIM:613177
HP:0025032	Abnormality of digestive system physiology	1161	ERCC8	ORPHA:90324
HP:0025032	Abnormality of digestive system physiology	2074	ERCC6	ORPHA:90324
HP:0025032	Abnormality of digestive system physiology	115908	CTHRC1	OMIM:614266
HP:0025032	Abnormality of digestive system physiology	4481	MSR1	OMIM:614266
HP:0025032	Abnormality of digestive system physiology	51008	ASCC1	OMIM:614266
HP:0025032	Abnormality of digestive system physiology	5238	PGM3	ORPHA:443811
HP:0025032	Abnormality of digestive system physiology	4897	NRCAM	OMIM:619833
HP:0025032	Abnormality of digestive system physiology	81857	MED25	OMIM:616449
HP:0025032	Abnormality of digestive system physiology	79848	CSPP1	ORPHA:397715
HP:0025032	Abnormality of digestive system physiology	9786	KIAA0586	ORPHA:397715
HP:0025032	Abnormality of digestive system physiology	4312	MMP1	ORPHA:79408
HP:0025032	Abnormality of digestive system physiology	1294	COL7A1	ORPHA:79408
HP:0025032	Abnormality of digestive system physiology	1294	COL7A1	ORPHA:89842
HP:0025032	Abnormality of digestive system physiology	7259	TSPYL1	OMIM:608800
HP:0025032	Abnormality of digestive system physiology	7259	TSPYL1	ORPHA:168593
HP:0025032	Abnormality of digestive system physiology	116931	MED12L	OMIM:618872
HP:0025032	Abnormality of digestive system physiology	161582	DNAAF4	OMIM:615482
HP:0025032	Abnormality of digestive system physiology	3020	H3-3A	OMIM:619720
HP:0025032	Abnormality of digestive system physiology	3021	H3-3B	OMIM:619721
HP:0025032	Abnormality of digestive system physiology	65993	MRPS34	OMIM:617664
HP:0025032	Abnormality of digestive system physiology	80816	ASXL3	OMIM:615485
HP:0025032	Abnormality of digestive system physiology	283489	CHAMP1	OMIM:616579
HP:0025032	Abnormality of digestive system physiology	8239	USP9X	OMIM:300919
HP:0025032	Abnormality of digestive system physiology	166378	AFG2A	OMIM:616577
HP:0025032	Abnormality of digestive system physiology	84466	MEGF10	OMIM:614399
HP:0025032	Abnormality of digestive system physiology	84520	GON7	OMIM:619603
HP:0025032	Abnormality of digestive system physiology	55636	CHD7	ORPHA:138
HP:0025032	Abnormality of digestive system physiology	9723	SEMA3E	ORPHA:138
HP:0025032	Abnormality of digestive system physiology	3908	LAMA2	ORPHA:258
HP:0025032	Abnormality of digestive system physiology	5428	POLG	ORPHA:298
HP:0025032	Abnormality of digestive system physiology	5428	POLG	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	1890	TYMP	ORPHA:298
HP:0025032	Abnormality of digestive system physiology	3980	LIG3	ORPHA:298
HP:0025032	Abnormality of digestive system physiology	50484	RRM2B	ORPHA:298
HP:0025032	Abnormality of digestive system physiology	50484	RRM2B	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	6660	SOX5	ORPHA:313892
HP:0025032	Abnormality of digestive system physiology	535	ATP6V0A1	OMIM:619971
HP:0025032	Abnormality of digestive system physiology	3190	HNRNPK	OMIM:616580
HP:0025032	Abnormality of digestive system physiology	816	CAMK2B	OMIM:617799
HP:0025032	Abnormality of digestive system physiology	9968	MED12	ORPHA:93932
HP:0025032	Abnormality of digestive system physiology	7994	KAT6A	ORPHA:457193
HP:0025032	Abnormality of digestive system physiology	7994	KAT6A	OMIM:616268
HP:0025032	Abnormality of digestive system physiology	1183	CLCN4	ORPHA:485350
HP:0025032	Abnormality of digestive system physiology	5832	ALDH18A1	OMIM:601162
HP:0025032	Abnormality of digestive system physiology	5832	ALDH18A1	ORPHA:447757
HP:0025032	Abnormality of digestive system physiology	1277	COL1A1	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	1289	COL5A1	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	1290	COL5A2	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	7020	TFAP2A	OMIM:113620
HP:0025032	Abnormality of digestive system physiology	10484	SEC23A	OMIM:607812
HP:0025032	Abnormality of digestive system physiology	22872	SEC31A	OMIM:618651
HP:0025032	Abnormality of digestive system physiology	4297	KMT2A	ORPHA:319182
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2260	FGFR1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2260	FGFR1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	23007	PLCH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	10735	STAG2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	10735	STAG2	OMIM:301043
HP:0025032	Abnormality of digestive system physiology	10735	STAG2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	3737	KCNA2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	1759	DNM1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	8120	AP3B2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	523	ATP6V1A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	10991	SLC38A3	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	10991	SLC38A3	OMIM:619881
HP:0025032	Abnormality of digestive system physiology	51343	FZR1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	22906	TRAK1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2566	GABRG2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	1917	EEF1A2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2561	GABRB2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	8831	SYNGAP1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	7532	YWHAG	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	79876	UBA5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	79876	UBA5	OMIM:617132
HP:0025032	Abnormality of digestive system physiology	6328	SCN3A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2558	GABRA5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	781	CACNA2D1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2906	GRIN2D	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	116150	NUS1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	10659	CELF2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	774	CACNA1B	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	774	CACNA1B	OMIM:618497
HP:0025032	Abnormality of digestive system physiology	1213	CLTC	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	1213	CLTC	OMIM:617854
HP:0025032	Abnormality of digestive system physiology	51741	WWOX	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23334	SZT2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	51412	ACTL6B	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	348980	HCN1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6506	SLC1A2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	8867	SYNJ1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2258	FGF13	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	477	ATP1A2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	3745	KCNB1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	284111	SLC13A5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	25977	NECAP1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	16	AARS1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6334	SCN8A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	22866	CNKSR2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	9568	GABBR2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2555	GABRA2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	55152	DALRD3	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	773	CACNA1A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	26999	CYFIP2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	4915	NTRK2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	25973	PARS2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23097	CDK19	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	64801	ARV1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	64801	ARV1	OMIM:617020
HP:0025032	Abnormality of digestive system physiology	79947	DHDDS	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2257	FGF12	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	5530	PPP3CA	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	478	ATP1A3	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	253738	EBF3	OMIM:617330
HP:0025032	Abnormality of digestive system physiology	2261	FGFR3	OMIM:616482
HP:0025032	Abnormality of digestive system physiology	9895	TECPR2	OMIM:615031
HP:0025032	Abnormality of digestive system physiology	8493	PPM1D	OMIM:617450
HP:0025032	Abnormality of digestive system physiology	23126	POGZ	OMIM:616364
HP:0025032	Abnormality of digestive system physiology	23126	POGZ	ORPHA:468678
HP:0025032	Abnormality of digestive system physiology	27125	AFF4	OMIM:616368
HP:0025032	Abnormality of digestive system physiology	27125	AFF4	ORPHA:444077
HP:0025032	Abnormality of digestive system physiology	51692	CPSF3	OMIM:619876
HP:0025032	Abnormality of digestive system physiology	8021	NUP214	OMIM:618426
HP:0025032	Abnormality of digestive system physiology	5590	PRKCZ	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	2563	GABRD	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	23013	SPEN	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	23013	SPEN	OMIM:619312
HP:0025032	Abnormality of digestive system physiology	8510	MMP23B	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	7798	LUZP1	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	6497	SKI	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	6497	SKI	ORPHA:2462
HP:0025032	Abnormality of digestive system physiology	6497	SKI	OMIM:182212
HP:0025032	Abnormality of digestive system physiology	10630	PDPN	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	3339	HSPG2	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	10277	UBE4B	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	8514	KCNAB2	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	473	RERE	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	473	RERE	ORPHA:494344
HP:0025032	Abnormality of digestive system physiology	473	RERE	OMIM:616975
HP:0025032	Abnormality of digestive system physiology	63976	PRDM16	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	54897	CASZ1	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	6134	RPL10	ORPHA:459070
HP:0025032	Abnormality of digestive system physiology	6134	RPL10	OMIM:300998
HP:0025032	Abnormality of digestive system physiology	6134	RPL10	ORPHA:435938
HP:0025032	Abnormality of digestive system physiology	415	ARSL	ORPHA:79345
HP:0025032	Abnormality of digestive system physiology	1859	DYRK1A	ORPHA:464311
HP:0025032	Abnormality of digestive system physiology	1859	DYRK1A	ORPHA:268261
HP:0025032	Abnormality of digestive system physiology	79796	ALG9	ORPHA:79328
HP:0025032	Abnormality of digestive system physiology	4247	MGAT2	ORPHA:79329
HP:0025032	Abnormality of digestive system physiology	6804	STX1A	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	6804	STX1A	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2947	GSTM3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	7040	TGFB1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	2729	GCLC	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1084	CEACAM3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	6556	SLC11A1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	51164	DCTN4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3783	KCNN4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	4282	MIF	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1909	EDNRA	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	6550	SLC9A3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3162	HMOX1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	115019	SLC26A9	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3077	HFE	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	11254	SLC6A14	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	5265	SERPINA1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1080	CFTR	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	22802	CLCA4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	4680	CEACAM6	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3785	KCNQ2	ORPHA:1949
HP:0025032	Abnormality of digestive system physiology	3786	KCNQ3	ORPHA:1949
HP:0025032	Abnormality of digestive system physiology	11231	SEC63	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	5589	PRKCSH	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	4041	LRP5	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	2542	SLC37A4	OMIM:619525
HP:0025032	Abnormality of digestive system physiology	9772	TMEM94	OMIM:618316
HP:0025032	Abnormality of digestive system physiology	51341	ZBTB7A	OMIM:619769
HP:0025032	Abnormality of digestive system physiology	9338	TCEAL1	OMIM:301094
HP:0025032	Abnormality of digestive system physiology	6925	TCF4	OMIM:610954
HP:0025032	Abnormality of digestive system physiology	6925	TCF4	ORPHA:2896
HP:0025032	Abnormality of digestive system physiology	10743	RAI1	ORPHA:1713
HP:0025032	Abnormality of digestive system physiology	10743	RAI1	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	23314	SATB2	ORPHA:576283
HP:0025032	Abnormality of digestive system physiology	23556	PIGN	OMIM:614080
HP:0025032	Abnormality of digestive system physiology	23556	PIGN	ORPHA:2059
HP:0025032	Abnormality of digestive system physiology	23556	PIGN	ORPHA:280633
HP:0025032	Abnormality of digestive system physiology	23162	MAPK8IP3	OMIM:618443
HP:0025032	Abnormality of digestive system physiology	54941	RNF125	OMIM:616260
HP:0025032	Abnormality of digestive system physiology	197258	FCSK	OMIM:618324
HP:0025032	Abnormality of digestive system physiology	79989	IFT56	OMIM:619534
HP:0025032	Abnormality of digestive system physiology	85365	ALG2	OMIM:607906
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	OMIM:616266
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	OMIM:615419
HP:0025032	Abnormality of digestive system physiology	25836	NIPBL	OMIM:122470
HP:0025032	Abnormality of digestive system physiology	25836	NIPBL	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	23219	FBXO28	OMIM:619777
HP:0025032	Abnormality of digestive system physiology	51322	WAC	ORPHA:466950
HP:0025032	Abnormality of digestive system physiology	79087	ALG12	ORPHA:79324
HP:0025032	Abnormality of digestive system physiology	2200	FBN1	OMIM:184900
HP:0025032	Abnormality of digestive system physiology	2200	FBN1	ORPHA:2462
HP:0025032	Abnormality of digestive system physiology	3756	KCNH1	OMIM:611816
HP:0025032	Abnormality of digestive system physiology	3756	KCNH1	OMIM:135500
HP:0025032	Abnormality of digestive system physiology	641	BLM	ORPHA:125
HP:0025032	Abnormality of digestive system physiology	25970	SH2B1	ORPHA:261197
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	OMIM:618332
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	ORPHA:353281
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	OMIM:180849
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	ORPHA:353277
HP:0025032	Abnormality of digestive system physiology	8621	CDK13	OMIM:617360
HP:0025032	Abnormality of digestive system physiology	58497	PRUNE1	ORPHA:544469
HP:0025032	Abnormality of digestive system physiology	1642	DDB1	OMIM:619426
HP:0025032	Abnormality of digestive system physiology	6857	SYT1	OMIM:618218
HP:0025032	Abnormality of digestive system physiology	6857	SYT1	ORPHA:522077
HP:0025032	Abnormality of digestive system physiology	389827	MYMK	OMIM:254940
HP:0025032	Abnormality of digestive system physiology	2902	GRIN1	ORPHA:208447
HP:0025032	Abnormality of digestive system physiology	2902	GRIN1	OMIM:619814
HP:0025032	Abnormality of digestive system physiology	291	SLC25A4	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	56652	TWNK	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	11232	POLG2	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	11232	POLG2	OMIM:610131
HP:0025032	Abnormality of digestive system physiology	9361	LONP1	OMIM:600373
HP:0025032	Abnormality of digestive system physiology	9361	LONP1	ORPHA:79243
HP:0025032	Abnormality of digestive system physiology	6477	SIAH1	OMIM:619314
HP:0025032	Abnormality of digestive system physiology	4000	LMNA	OMIM:619793
HP:0025032	Abnormality of digestive system physiology	6885	MAP3K7	OMIM:617137
HP:0025032	Abnormality of digestive system physiology	6885	MAP3K7	OMIM:157800
HP:0025032	Abnormality of digestive system physiology	1235	CCR6	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	1235	CCR6	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	79932	KIAA0319L	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	1490	CCN2	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	1490	CCN2	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	3663	IRF5	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	3663	IRF5	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	857	CAV1	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	857	CAV1	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	3123	HLA-DRB1	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	55869	HDAC8	OMIM:300882
HP:0025032	Abnormality of digestive system physiology	55869	HDAC8	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	6299	SALL1	OMIM:107480
HP:0025032	Abnormality of digestive system physiology	29998	BICRA	OMIM:619325
HP:0025032	Abnormality of digestive system physiology	63895	PIEZO2	OMIM:617146
HP:0025032	Abnormality of digestive system physiology	2033	EP300	ORPHA:353284
HP:0025032	Abnormality of digestive system physiology	2033	EP300	OMIM:180849
HP:0025032	Abnormality of digestive system physiology	3930	LBR	ORPHA:779
HP:0025032	Abnormality of digestive system physiology	443	ASPA	ORPHA:314911
HP:0025032	Abnormality of digestive system physiology	4952	OCRL	ORPHA:534
HP:0025032	Abnormality of digestive system physiology	9126	SMC3	OMIM:610759
HP:0025032	Abnormality of digestive system physiology	9126	SMC3	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	55777	MBD5	OMIM:156200
HP:0025032	Abnormality of digestive system physiology	112939	NACC1	OMIM:617393
HP:0025032	Abnormality of digestive system physiology	4998	ORC1	OMIM:224690
HP:0025032	Abnormality of digestive system physiology	54496	PRMT7	OMIM:617157
HP:0025032	Abnormality of digestive system physiology	54551	MAGEL2	ORPHA:398069
HP:0025032	Abnormality of digestive system physiology	54551	MAGEL2	OMIM:615547
HP:0025032	Abnormality of digestive system physiology	5831	PYCR1	OMIM:612940
HP:0025032	Abnormality of digestive system physiology	201163	FLCN	OMIM:610883
HP:0025032	Abnormality of digestive system physiology	51079	NDUFA13	OMIM:618249
HP:0025032	Abnormality of digestive system physiology	9719	ADAMTSL2	ORPHA:1901
HP:0025032	Abnormality of digestive system physiology	9509	ADAMTS2	ORPHA:1901
HP:0025032	Abnormality of digestive system physiology	1312	COMT	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	221037	JMJD1C	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	2812	GP1BB	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	6239	RREB1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	6899	TBX1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	6899	TBX1	OMIM:188400
HP:0025032	Abnormality of digestive system physiology	7290	HIRA	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	9632	SEC24C	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	7353	UFD1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	421	ARVCF	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	2778	GNAS	ORPHA:562
HP:0025032	Abnormality of digestive system physiology	22827	PUF60	ORPHA:508488
HP:0025032	Abnormality of digestive system physiology	3265	HRAS	ORPHA:3071
HP:0025032	Abnormality of digestive system physiology	7703	PCGF2	OMIM:618371
HP:0025032	Abnormality of digestive system physiology	9496	TBX4	ORPHA:261279
HP:0025032	Abnormality of digestive system physiology	2743	GLRB	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	2743	GLRB	OMIM:614619
HP:0025032	Abnormality of digestive system physiology	2741	GLRA1	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	10243	GPHN	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	84896	ATAD1	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	9152	SLC6A5	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	9152	SLC6A5	OMIM:614618
HP:0025032	Abnormality of digestive system physiology	1760	DMPK	ORPHA:589821
HP:0025032	Abnormality of digestive system physiology	372	ARCN1	OMIM:617164
HP:0025032	Abnormality of digestive system physiology	8802	SUCLG1	ORPHA:17
HP:0025032	Abnormality of digestive system physiology	1822	ATN1	OMIM:618494
HP:0025032	Abnormality of digestive system physiology	3188	HNRNPH2	OMIM:300986
HP:0025032	Abnormality of digestive system physiology	5000	ORC4	OMIM:613800
HP:0025032	Abnormality of digestive system physiology	6304	SATB1	OMIM:619229
HP:0025032	Abnormality of digestive system physiology	23594	ORC6	OMIM:613803
HP:0025032	Abnormality of digestive system physiology	990	CDC6	OMIM:613805
HP:0025032	Abnormality of digestive system physiology	2316	FLNA	ORPHA:75497
HP:0025032	Abnormality of digestive system physiology	2316	FLNA	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	4629	MYH11	OMIM:619350
HP:0025032	Abnormality of digestive system physiology	37	ACADVL	OMIM:201475
HP:0025032	Abnormality of digestive system physiology	2290	FOXG1	ORPHA:261144
HP:0025032	Abnormality of digestive system physiology	2290	FOXG1	OMIM:613454
HP:0025032	Abnormality of digestive system physiology	54809	SAMD9	OMIM:617053
HP:0025032	Abnormality of digestive system physiology	57003	CCDC47	OMIM:618268
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	OMIM:617173
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	OMIM:617182
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	ORPHA:542306
HP:0025032	Abnormality of digestive system physiology	10526	IPO8	OMIM:619472
HP:0025032	Abnormality of digestive system physiology	64840	PORCN	ORPHA:2092
HP:0025032	Abnormality of digestive system physiology	10847	SRCAP	OMIM:619595
HP:0025032	Abnormality of digestive system physiology	10847	SRCAP	ORPHA:2044
HP:0025032	Abnormality of digestive system physiology	51604	PIGT	ORPHA:369837
HP:0025032	Abnormality of digestive system physiology	246329	STAC3	ORPHA:168572
HP:0025032	Abnormality of digestive system physiology	526	ATP6V1B2	ORPHA:79500
HP:0025032	Abnormality of digestive system physiology	57465	TBC1D24	ORPHA:79500
HP:0025032	Abnormality of digestive system physiology	11198	SUPT16H	OMIM:619480
HP:0025032	Abnormality of digestive system physiology	2887	GRB10	ORPHA:96182
HP:0025032	Abnormality of digestive system physiology	283446	MYO1H	OMIM:619482
HP:0025032	Abnormality of digestive system physiology	6872	TAF1	OMIM:300966
HP:0025032	Abnormality of digestive system physiology	374879	ZNF699	OMIM:619488
HP:0025032	Abnormality of digestive system physiology	4841	NONO	OMIM:300967
HP:0025032	Abnormality of digestive system physiology	4841	NONO	ORPHA:466791
HP:0025032	Abnormality of digestive system physiology	5058	PAK1	OMIM:618158
HP:0025032	Abnormality of digestive system physiology	57038	RARS2	OMIM:611523
HP:0025032	Abnormality of digestive system physiology	8911	CACNA1I	OMIM:620114
HP:0025032	Abnormality of digestive system physiology	10551	AGR2	OMIM:620233
HP:0025032	Abnormality of digestive system physiology	4221	MEN1	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1027	CDKN1B	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1026	CDKN1A	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1030	CDKN2B	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1031	CDKN2C	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	80267	EDEM3	OMIM:619493
HP:0025032	Abnormality of digestive system physiology	1650	DDOST	ORPHA:300536
HP:0025032	Abnormality of digestive system physiology	1650	DDOST	OMIM:614507
HP:0025032	Abnormality of digestive system physiology	6748	SSR4	ORPHA:370927
HP:0025032	Abnormality of digestive system physiology	4508	MT-ATP6	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	23636	NUP62	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	103	ADAR	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	10479	SLC9A6	ORPHA:85278
HP:0025032	Abnormality of digestive system physiology	1984	EIF5A	OMIM:619376
HP:0025032	Abnormality of digestive system physiology	79651	RHBDF2	ORPHA:2198
HP:0025032	Abnormality of digestive system physiology	2581	GALC	ORPHA:206436
HP:0025032	Abnormality of digestive system physiology	5660	PSAP	ORPHA:206436
HP:0025032	Abnormality of digestive system physiology	10079	ATP9A	OMIM:620242
HP:0025032	Abnormality of digestive system physiology	9897	WASHC5	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	28952	CCDC22	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	2629	GBA1	OMIM:230900
HP:0025032	Abnormality of digestive system physiology	27161	AGO2	OMIM:619149
HP:0025032	Abnormality of digestive system physiology	55294	FBXW7	OMIM:620012
HP:0025032	Abnormality of digestive system physiology	9325	TRIP4	ORPHA:486815
HP:0025032	Abnormality of digestive system physiology	8243	SMC1A	OMIM:300590
HP:0025032	Abnormality of digestive system physiology	8243	SMC1A	OMIM:301044
HP:0025032	Abnormality of digestive system physiology	8243	SMC1A	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	8243	SMC1A	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	8506	CNTNAP1	OMIM:618186
HP:0025032	Abnormality of digestive system physiology	55503	TRPV6	OMIM:618188
HP:0025032	Abnormality of digestive system physiology	5885	RAD21	OMIM:614701
HP:0025032	Abnormality of digestive system physiology	5885	RAD21	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	7355	SLC35A2	ORPHA:356961
HP:0025032	Abnormality of digestive system physiology	7355	SLC35A2	OMIM:300896
HP:0025032	Abnormality of digestive system physiology	673	BRAF	OMIM:115150
HP:0025032	Abnormality of digestive system physiology	775	CACNA1C	OMIM:620029
HP:0025032	Abnormality of digestive system physiology	10274	STAG1	ORPHA:502434
HP:0025032	Abnormality of digestive system physiology	10274	STAG1	OMIM:617635
HP:0025032	Abnormality of digestive system physiology	64324	NSD1	ORPHA:821
HP:0025032	Abnormality of digestive system physiology	64324	NSD1	OMIM:117550
HP:0025032	Abnormality of digestive system physiology	29072	SETD2	ORPHA:821
HP:0025032	Abnormality of digestive system physiology	10297	APC2	ORPHA:821
HP:0025032	Abnormality of digestive system physiology	5447	POR	ORPHA:95699
HP:0025032	Abnormality of digestive system physiology	4784	NFIX	ORPHA:447980
HP:0025032	Abnormality of digestive system physiology	6531	SLC6A3	ORPHA:238455
HP:0025032	Abnormality of digestive system physiology	6531	SLC6A3	OMIM:613135
HP:0025032	Abnormality of digestive system physiology	4281	MID1	OMIM:300000
HP:0025032	Abnormality of digestive system physiology	80232	WDR26	ORPHA:513456
HP:0025032	Abnormality of digestive system physiology	51112	TRAPPC12	ORPHA:500144
HP:0025032	Abnormality of digestive system physiology	51506	UFC1	OMIM:618076
HP:0025032	Abnormality of digestive system physiology	2314	FLII	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	23096	IQSEC2	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	10522	DEAF1	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	1717	DHCR7	ORPHA:818
HP:0025032	Abnormality of digestive system physiology	1717	DHCR7	OMIM:270400
HP:0025032	Abnormality of digestive system physiology	9915	ARNT2	OMIM:615926
HP:0025032	Abnormality of digestive system physiology	10978	CLP1	OMIM:615803
HP:0025032	Abnormality of digestive system physiology	5979	RET	ORPHA:99803
HP:0025032	Abnormality of digestive system physiology	429	ASCL1	ORPHA:99803
HP:0025032	Abnormality of digestive system physiology	8929	PHOX2B	ORPHA:99803
HP:0025032	Abnormality of digestive system physiology	3119	HLA-DQB1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	9244	CRLF1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	3117	HLA-DQA1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	4842	NOS1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	4868	NPHS1	OMIM:256300
HP:0025032	Abnormality of digestive system physiology	7298	TYMS	OMIM:620040
HP:0025032	Abnormality of digestive system physiology	6595	SMARCA2	OMIM:619293
HP:0025032	Abnormality of digestive system physiology	3899	AFF3	OMIM:619297
HP:0025032	Abnormality of digestive system physiology	1136	CHRNA3	OMIM:191800
HP:0025032	Abnormality of digestive system physiology	5119	CHMP1A	OMIM:614961
HP:0025032	Abnormality of digestive system physiology	6440	SFTPC	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	729238	SFTPA2	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	79991	STN1	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	653509	SFTPA1	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	21	ABCA3	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	1832	DSP	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	727897	MUC5B	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	10144	FAM13A	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	23250	ATP11A	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	91039	DPP9	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	51750	RTEL1	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	7012	TERC	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	5073	PARN	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	7015	TERT	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	7015	TERT	OMIM:614742
HP:0025032	Abnormality of digestive system physiology	546	ATRX	ORPHA:847
HP:0025032	Abnormality of digestive system physiology	546	ATRX	OMIM:309580
HP:0025032	Abnormality of digestive system physiology	546	ATRX	OMIM:301040
HP:0025032	Abnormality of digestive system physiology	8546	AP3B1	OMIM:608233
HP:0025032	Abnormality of digestive system physiology	4212	MEIS2	OMIM:600987
HP:0025032	Abnormality of digestive system physiology	7156	TOP3A	OMIM:618097
HP:0025032	Abnormality of digestive system physiology	132158	GLYCTK	OMIM:220120
HP:0025032	Abnormality of digestive system physiology	79813	EHMT1	OMIM:610253
HP:0025032	Abnormality of digestive system physiology	79813	EHMT1	ORPHA:261652
HP:0025032	Abnormality of digestive system physiology	25942	SIN3A	OMIM:613406
HP:0025032	Abnormality of digestive system physiology	53834	FGFRL1	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	1487	CTBP1	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	3954	LETM1	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	7468	NSD2	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	10815	CPLX1	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	5826	ABCD4	OMIM:614857
HP:0025032	Abnormality of digestive system physiology	10558	SPTLC1	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	25923	ATL3	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	9517	SPTLC2	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	51062	ATL1	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	375	ARF1	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	4131	MAP1B	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	23327	NEDD4L	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	160418	TMTC3	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	10564	ARFGEF2	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	55780	ERMARD	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	7840	ALMS1	ORPHA:64
HP:0025032	Abnormality of digestive system physiology	4204	MECP2	OMIM:300673
HP:0025032	Abnormality of digestive system physiology	4204	MECP2	OMIM:312750
HP:0025032	Abnormality of digestive system physiology	4204	MECP2	OMIM:300260
HP:0025032	Abnormality of digestive system physiology	6792	CDKL5	OMIM:300672
HP:0025032	Abnormality of digestive system physiology	56006	SMG9	OMIM:616920
HP:0025032	Abnormality of digestive system physiology	2332	FMR1	ORPHA:908
HP:0025032	Abnormality of digestive system physiology	2332	FMR1	ORPHA:449291
HP:0025032	Abnormality of digestive system physiology	7461	CLIP2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	84277	DNAJC30	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	8468	FKBP6	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	5982	RFC2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2969	GTF2I	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	3984	LIMK1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	9569	GTF2IRD1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	155382	VPS37D	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	155368	METTL27	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	114049	BUD23	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	7458	EIF4H	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	84163	GTF2IRD2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	9275	BCL7B	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	26608	TBL2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	653361	NCF1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	135886	TMEM270	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	51085	MLXIPL	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	51085	MLXIPL	OMIM:194050
HP:0025032	Abnormality of digestive system physiology	9031	BAZ1B	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2006	ELN	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2006	ELN	OMIM:194050
HP:0025032	Abnormality of digestive system physiology	10056	FARSB	OMIM:613658
HP:0025032	Abnormality of digestive system physiology	81031	SLC2A10	ORPHA:3342
HP:0025032	Abnormality of digestive system physiology	9289	ADGRG1	ORPHA:98889
HP:0025032	Abnormality of digestive system physiology	5297	PI4KA	ORPHA:98889
HP:0025032	Abnormality of digestive system physiology	27286	SRPX2	ORPHA:98889
HP:0025032	Abnormality of digestive system physiology	8085	KMT2D	OMIM:620186
HP:0025032	Abnormality of digestive system physiology	23137	SMC5	OMIM:620185
HP:0025032	Abnormality of digestive system physiology	51611	DPH5	OMIM:620070
HP:0025032	Abnormality of digestive system physiology	6558	SLC12A2	OMIM:619080
HP:0025032	Abnormality of digestive system physiology	58508	KMT2C	ORPHA:261652
HP:0025032	Abnormality of digestive system physiology	5594	MAPK1	OMIM:619087
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B	ORPHA:85201
HP:0025032	Abnormality of digestive system physiology	23261	CAMTA1	OMIM:614756
HP:0025032	Abnormality of digestive system physiology	10472	ZBTB18	OMIM:612337
HP:0025032	Abnormality of digestive system physiology	3187	HNRNPH1	OMIM:620083
HP:0025032	Abnormality of digestive system physiology	2535	FZD2	OMIM:164745
HP:0025032	Abnormality of digestive system physiology	50628	GEMIN4	OMIM:617913
HP:0025032	Abnormality of digestive system physiology	6509	SLC1A4	ORPHA:447997
HP:0025032	Abnormality of digestive system physiology	171023	ASXL1	OMIM:605039
HP:0025032	Abnormality of digestive system physiology	55023	PHIP	ORPHA:589905
HP:0025032	Abnormality of digestive system physiology	54463	RETREG1	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	65125	WNK1	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	6335	SCN9A	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	547	KIF1A	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	667	DST	OMIM:614653
HP:0025032	Abnormality of digestive system physiology	55690	PACS1	ORPHA:329224
HP:0025032	Abnormality of digestive system physiology	51053	GMNN	OMIM:616835
HP:0025032	Abnormality of digestive system physiology	196528	ARID2	OMIM:617808
HP:0025032	Abnormality of digestive system physiology	1288	COL4A6	ORPHA:1018
HP:0025032	Abnormality of digestive system physiology	1287	COL4A5	ORPHA:1018
HP:0025032	Abnormality of digestive system physiology	91949	COG7	OMIM:608779
HP:0025032	Abnormality of digestive system physiology	9780	PIEZO1	OMIM:616843
HP:0025032	Abnormality of digestive system physiology	100151683	RNU4ATAC	OMIM:210710
HP:0025032	Abnormality of digestive system physiology	1305	COL13A1	OMIM:616720
HP:0025032	Abnormality of digestive system physiology	1305	COL13A1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	1280	COL2A1	ORPHA:93316
HP:0025032	Abnormality of digestive system physiology	85358	SHANK3	OMIM:606232
HP:0025032	Abnormality of digestive system physiology	85358	SHANK3	ORPHA:48652
HP:0025032	Abnormality of digestive system physiology	113235	SLC46A1	ORPHA:90045
HP:0025032	Abnormality of digestive system physiology	113179	ADAT3	ORPHA:363528
HP:0025032	Abnormality of digestive system physiology	11151	CORO1A	OMIM:615401
HP:0025032	Abnormality of digestive system physiology	54931	TRMT10C	OMIM:616974
HP:0025032	Abnormality of digestive system physiology	10157	AASS	ORPHA:2203
HP:0025032	Abnormality of digestive system physiology	3097	HIVEP2	OMIM:616977
HP:0025032	Abnormality of digestive system physiology	1644	DDC	OMIM:608643
HP:0025032	Abnormality of digestive system physiology	10560	SLC19A2	OMIM:249270
HP:0025032	Abnormality of digestive system physiology	6709	SPTAN1	OMIM:613477
HP:0025032	Abnormality of digestive system physiology	9378	NRXN1	OMIM:614325
HP:0025032	Abnormality of digestive system physiology	5160	PDHA1	ORPHA:79243
HP:0025032	Abnormality of digestive system physiology	84693	MCEE	OMIM:251120
HP:0025032	Abnormality of digestive system physiology	10943	MSL3	OMIM:301032
HP:0025032	Abnormality of digestive system physiology	5723	PSPH	ORPHA:79350
HP:0025032	Abnormality of digestive system physiology	26227	PHGDH	ORPHA:79351
HP:0025032	Abnormality of digestive system physiology	59336	PRDM13	OMIM:619909
HP:0025032	Abnormality of digestive system physiology	23476	BRD4	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	538	ATP7A	ORPHA:198
HP:0025032	Abnormality of digestive system physiology	7874	USP7	ORPHA:500055
HP:0025032	Abnormality of digestive system physiology	10664	CTCF	ORPHA:363611
HP:0025032	Abnormality of digestive system physiology	6628	SNRPB	OMIM:117650
HP:0025032	Abnormality of digestive system physiology	29957	SLC25A24	OMIM:612289
HP:0025032	Abnormality of digestive system physiology	80152	CENPT	OMIM:618702
HP:0025032	Abnormality of digestive system physiology	3575	IL7R	OMIM:608971
HP:0025032	Abnormality of digestive system physiology	5293	PIK3CD	ORPHA:221139
HP:0025032	Abnormality of digestive system physiology	90417	KNSTRN	ORPHA:221139
HP:0025032	Abnormality of digestive system physiology	8405	SPOP	OMIM:618829
HP:0025032	Abnormality of digestive system physiology	10128	LRPPRC	ORPHA:70472
HP:0025032	Abnormality of digestive system physiology	83737	ITCH	OMIM:613385
HP:0025032	Abnormality of digestive system physiology	283989	TSEN54	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	116461	TSEN15	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	79042	TSEN34	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	80746	TSEN2	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	51091	SEPSECS	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	57688	ZSWIM6	OMIM:617865
HP:0025032	Abnormality of digestive system physiology	2890	GRIA1	OMIM:619927
HP:0025032	Abnormality of digestive system physiology	60482	SLC5A7	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	4649	MYO9A	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	1103	CHAT	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6576	SLC25A1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6843	VAMP1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	375790	AGRN	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	127833	SYT2	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6572	SLC18A3	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6616	SNAP25	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	7291	TWIST1	OMIM:617746
HP:0025032	Abnormality of digestive system physiology	139285	AMER1	OMIM:300373
HP:0025032	Abnormality of digestive system physiology	6651	SON	ORPHA:500150
HP:0025032	Abnormality of digestive system physiology	9757	KMT2B	OMIM:619934
HP:0025032	Abnormality of digestive system physiology	5430	POLR2A	OMIM:618603
HP:0025032	Abnormality of digestive system physiology	57731	SPTBN4	OMIM:617519
HP:0025032	Abnormality of digestive system physiology	29928	TIMM22	OMIM:618851
HP:0025032	Abnormality of digestive system physiology	8803	SUCLA2	OMIM:612073
HP:0025032	Abnormality of digestive system physiology	25871	NEPRO	OMIM:618853
HP:0025032	Abnormality of digestive system physiology	8974	P4HA2	ORPHA:397
HP:0025032	Abnormality of digestive system physiology	861	RUNX1	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	90268	OTULIN	OMIM:617099
HP:0025032	Abnormality of digestive system physiology	144811	LACC1	ORPHA:85414
HP:0025032	Abnormality of digestive system physiology	30061	SLC40A1	ORPHA:139491
HP:0025032	Abnormality of digestive system physiology	8573	CASK	OMIM:300908
HP:0025032	Abnormality of digestive system physiology	2539	G6PD	OMIM:300908
HP:0025032	Abnormality of digestive system physiology	4598	MVK	OMIM:260920
HP:0025032	Abnormality of digestive system physiology	4598	MVK	ORPHA:343
HP:0025032	Abnormality of digestive system physiology	5009	OTC	OMIM:311250
HP:0025032	Abnormality of digestive system physiology	26873	OPLAH	OMIM:260005
HP:0025032	Abnormality of digestive system physiology	2038	EPB42	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6521	SLC4A1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6521	SLC4A1	ORPHA:3202
HP:0025032	Abnormality of digestive system physiology	6710	SPTB	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6710	SPTB	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	6708	SPTA1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6708	SPTA1	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	286	ANK1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	4233	MET	ORPHA:33402
HP:0025032	Abnormality of digestive system physiology	10686	CLDN16	OMIM:248250
HP:0025032	Abnormality of digestive system physiology	2642	GCGR	OMIM:619290
HP:0025032	Abnormality of digestive system physiology	2642	GCGR	ORPHA:438274
HP:0025032	Abnormality of digestive system physiology	3043	HBB	OMIM:603903
HP:0025032	Abnormality of digestive system physiology	3043	HBB	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	3043	HBB	ORPHA:90039
HP:0025032	Abnormality of digestive system physiology	2859	GPR35	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	10507	SEMA4D	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	4485	MST1	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	353	APRT	OMIM:614723
HP:0025032	Abnormality of digestive system physiology	4352	MPL	ORPHA:729
HP:0025032	Abnormality of digestive system physiology	3717	JAK2	ORPHA:729
HP:0025032	Abnormality of digestive system physiology	3717	JAK2	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	6794	STK11	OMIM:175200
HP:0025032	Abnormality of digestive system physiology	6794	STK11	ORPHA:2869
HP:0025032	Abnormality of digestive system physiology	9570	GOSR2	OMIM:620166
HP:0025032	Abnormality of digestive system physiology	84133	ZNRF3	ORPHA:1501
HP:0025032	Abnormality of digestive system physiology	5573	PRKAR1A	ORPHA:1501
HP:0025032	Abnormality of digestive system physiology	5573	PRKAR1A	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	2035	EPB41	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	2995	GYPC	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	2984	GUCY2C	OMIM:614616
HP:0025032	Abnormality of digestive system physiology	1244	ABCC2	ORPHA:234
HP:0025032	Abnormality of digestive system physiology	22900	CARD8	OMIM:619079
HP:0025032	Abnormality of digestive system physiology	2321	FLT1	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	219736	STOX1	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	10699	CORIN	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	8659	ALDH4A1	ORPHA:79101
HP:0025032	Abnormality of digestive system physiology	84992	PIGY	OMIM:616809
HP:0025032	Abnormality of digestive system physiology	5645	PRSS2	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	5645	PRSS2	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	5644	PRSS1	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	5644	PRSS1	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	5205	ATP8B1	ORPHA:69665
HP:0025032	Abnormality of digestive system physiology	8647	ABCB11	ORPHA:69665
HP:0025032	Abnormality of digestive system physiology	5244	ABCB4	ORPHA:69665
HP:0025032	Abnormality of digestive system physiology	9971	NR1H4	ORPHA:69665
HP:0025032	Abnormality of digestive system physiology	1649	DDIT3	ORPHA:99967
HP:0025032	Abnormality of digestive system physiology	3662	IRF4	ORPHA:3452
HP:0025032	Abnormality of digestive system physiology	19	ABCA1	ORPHA:31150
HP:0025032	Abnormality of digestive system physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0025032	Abnormality of digestive system physiology	811	CALR	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	2153	F5	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	654	BMP6	ORPHA:465508
HP:0025032	Abnormality of digestive system physiology	11181	TREH	ORPHA:103909
HP:0025032	Abnormality of digestive system physiology	11181	TREH	OMIM:612119
HP:0025032	Abnormality of digestive system physiology	64241	ABCG8	OMIM:210250
HP:0025032	Abnormality of digestive system physiology	10312	TCIRG1	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	1991	ELANE	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	1991	ELANE	ORPHA:2686
HP:0025032	Abnormality of digestive system physiology	2672	GFI1	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	6729	SRP54	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	6476	SI	OMIM:222900
HP:0025032	Abnormality of digestive system physiology	165918	RNF168	ORPHA:420741
HP:0025032	Abnormality of digestive system physiology	950	SCARB2	ORPHA:77259
HP:0025032	Abnormality of digestive system physiology	4175	MCM6	OMIM:223100
HP:0025032	Abnormality of digestive system physiology	2767	GNA11	ORPHA:428
HP:0025032	Abnormality of digestive system physiology	6696	SPP1	ORPHA:93552
HP:0025032	Abnormality of digestive system physiology	3654	IRAK1	ORPHA:93552
HP:0025032	Abnormality of digestive system physiology	2057	EPOR	ORPHA:90042
HP:0025032	Abnormality of digestive system physiology	53335	BCL11A	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	10661	KLF1	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	3047	HBG1	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	3048	HBG2	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	5774	PTPN3	ORPHA:70567
HP:0025032	Abnormality of digestive system physiology	7248	TSC1	ORPHA:538
HP:0025032	Abnormality of digestive system physiology	7249	TSC2	ORPHA:538
HP:0025032	Abnormality of digestive system physiology	5978	REST	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	129563	DIS3L2	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	9319	TRIP13	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	10155	TRIM28	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	11281	POU6F2	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	2719	GPC3	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	283120	H19	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	23607	CD2AP	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	9688	NUP93	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	4643	MYO1E	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	64423	INF2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	26130	GAPVD1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	57122	NUP107	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	51479	ANKFY1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	54443	ANLN	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	5800	PTPRO	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	286204	CRB2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23165	NUP205	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	2013	EMP2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79023	NUP37	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	51196	PLCE1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79902	NUP85	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	1285	COL4A3	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	396	ARHGDIA	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79934	COQ8B	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23279	NUP160	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	9863	MAGI2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	81	ACTN4	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	7225	TRPC6	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	8542	APOL1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	54885	TBC1D8B	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	7827	NPHS2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	83478	ARHGAP24	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23500	DAAM2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	5076	PAX2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	55746	NUP133	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	1357	CPA1	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	650	BMP2	OMIM:235200
HP:0025032	Abnormality of digestive system physiology	54795	TRPM4	ORPHA:871
HP:0025032	Abnormality of digestive system physiology	6324	SCN1B	ORPHA:871
HP:0025032	Abnormality of digestive system physiology	1053	CEBPE	OMIM:260570
HP:0025032	Abnormality of digestive system physiology	1056	CEL	OMIM:609812
HP:0025032	Abnormality of digestive system physiology	64711	HS3ST6	OMIM:619367
HP:0025032	Abnormality of digestive system physiology	10585	POMT1	ORPHA:86812
HP:0025032	Abnormality of digestive system physiology	51816	ADA2	OMIM:615688
HP:0025032	Abnormality of digestive system physiology	91662	NLRP12	OMIM:611762
HP:0025032	Abnormality of digestive system physiology	5294	PIK3CG	OMIM:619802
HP:0025032	Abnormality of digestive system physiology	595	CCND1	ORPHA:892
HP:0025032	Abnormality of digestive system physiology	55898	UNC45A	OMIM:619377
HP:0025032	Abnormality of digestive system physiology	6850	SYK	OMIM:619381
HP:0025032	Abnormality of digestive system physiology	6774	STAT3	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	5371	PML	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	5914	RARA	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	359948	IRF2BP2	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	81608	FIP1L1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	4869	NPM1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	54880	BCOR	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	64859	NABP1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	6777	STAT5B	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	4926	NUMA1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	7704	ZBTB16	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	79718	TBL1XR1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	1604	CD55	OMIM:226300
HP:0025032	Abnormality of digestive system physiology	115286	SLC25A26	OMIM:616794
HP:0025032	Abnormality of digestive system physiology	4689	NCF4	OMIM:613960
HP:0025032	Abnormality of digestive system physiology	7388	UQCRH	OMIM:620137
HP:0025032	Abnormality of digestive system physiology	2693	GHSR	ORPHA:314811
HP:0025032	Abnormality of digestive system physiology	3689	ITGB2	OMIM:116920
HP:0025032	Abnormality of digestive system physiology	6555	SLC10A2	OMIM:613291
HP:0025032	Abnormality of digestive system physiology	695	BTK	OMIM:300755
HP:0025032	Abnormality of digestive system physiology	695	BTK	ORPHA:47
HP:0025032	Abnormality of digestive system physiology	3551	IKBKB	OMIM:615592
HP:0025032	Abnormality of digestive system physiology	79827	CLMP	OMIM:615237
HP:0025032	Abnormality of digestive system physiology	118429	ANTXR2	ORPHA:2176
HP:0025032	Abnormality of digestive system physiology	50943	FOXP3	OMIM:304790
HP:0025032	Abnormality of digestive system physiology	55630	SLC39A4	ORPHA:37
HP:0025032	Abnormality of digestive system physiology	3718	JAK3	OMIM:600802
HP:0025032	Abnormality of digestive system physiology	3718	JAK3	ORPHA:35078
HP:0025032	Abnormality of digestive system physiology	3561	IL2RG	OMIM:300400
HP:0025032	Abnormality of digestive system physiology	3561	IL2RG	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	6809	STX3	OMIM:619446
HP:0025032	Abnormality of digestive system physiology	23149	FCHO1	OMIM:619164
HP:0025032	Abnormality of digestive system physiology	10525	HYOU1	OMIM:233600
HP:0025032	Abnormality of digestive system physiology	4792	NFKBIA	OMIM:612132
HP:0025032	Abnormality of digestive system physiology	841	CASP8	OMIM:607271
HP:0025032	Abnormality of digestive system physiology	472	ATM	OMIM:208900
HP:0025032	Abnormality of digestive system physiology	427	ASAH1	ORPHA:333
HP:0025032	Abnormality of digestive system physiology	105371045	PERCC1	ORPHA:92050
HP:0025032	Abnormality of digestive system physiology	7037	TFRC	OMIM:616740
HP:0025032	Abnormality of digestive system physiology	537	ATP6AP1	OMIM:300972
HP:0025032	Abnormality of digestive system physiology	84876	ORAI1	OMIM:612782
HP:0025032	Abnormality of digestive system physiology	1777	DNASE2	OMIM:619858
HP:0025032	Abnormality of digestive system physiology	3423	IDS	ORPHA:217085
HP:0025032	Abnormality of digestive system physiology	3423	IDS	ORPHA:217093
HP:0025032	Abnormality of digestive system physiology	26007	TKFC	OMIM:618805
HP:0025032	Abnormality of digestive system physiology	6499	SKIC2	OMIM:614602
HP:0025032	Abnormality of digestive system physiology	3572	IL6ST	OMIM:618523
HP:0025032	Abnormality of digestive system physiology	4547	MTTP	ORPHA:14
HP:0025032	Abnormality of digestive system physiology	2068	ERCC2	OMIM:601675
HP:0025032	Abnormality of digestive system physiology	5528	PPP2R5D	OMIM:616355
HP:0025032	Abnormality of digestive system physiology	5528	PPP2R5D	ORPHA:457279
HP:0025032	Abnormality of digestive system physiology	146206	CARMIL2	OMIM:618131
HP:0025032	Abnormality of digestive system physiology	1380	CR2	OMIM:614699
HP:0025032	Abnormality of digestive system physiology	3981	LIG4	ORPHA:235
HP:0025032	Abnormality of digestive system physiology	3981	LIG4	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	54888	NSUN2	ORPHA:235
HP:0025032	Abnormality of digestive system physiology	7737	RNF113A	OMIM:300953
HP:0025032	Abnormality of digestive system physiology	1593	CYP27A1	ORPHA:909
HP:0025032	Abnormality of digestive system physiology	5295	PIK3R1	OMIM:616005
HP:0025032	Abnormality of digestive system physiology	3514	IGKC	OMIM:614102
HP:0025032	Abnormality of digestive system physiology	5896	RAG1	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	5897	RAG2	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	64421	DCLRE1C	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	64421	DCLRE1C	OMIM:602450
HP:0025032	Abnormality of digestive system physiology	100	ADA	ORPHA:39041
HP:0025032	Abnormality of digestive system physiology	100	ADA	OMIM:102700
HP:0025032	Abnormality of digestive system physiology	3425	IDUA	ORPHA:93473
HP:0025032	Abnormality of digestive system physiology	23474	ETHE1	OMIM:602473
HP:0025032	Abnormality of digestive system physiology	6523	SLC5A1	OMIM:606824
HP:0025032	Abnormality of digestive system physiology	55027	HEATR3	OMIM:620072
HP:0025032	Abnormality of digestive system physiology	56052	ALG1	ORPHA:79327
HP:0025032	Abnormality of digestive system physiology	3507	IGHM	OMIM:601495
HP:0025032	Abnormality of digestive system physiology	123264	SLC51B	OMIM:619481
HP:0025032	Abnormality of digestive system physiology	8567	MADD	OMIM:619004
HP:0025032	Abnormality of digestive system physiology	8567	MADD	OMIM:619005
HP:0025032	Abnormality of digestive system physiology	60468	BACH2	OMIM:618394
HP:0025032	Abnormality of digestive system physiology	200931	SLC51A	OMIM:619484
HP:0025032	Abnormality of digestive system physiology	11311	VPS45	OMIM:615285
HP:0025032	Abnormality of digestive system physiology	50615	IL21R	OMIM:615207
HP:0025032	Abnormality of digestive system physiology	498	ATP5F1A	OMIM:620358
HP:0025032	Abnormality of digestive system physiology	917	CD3G	OMIM:615607
HP:0025032	Abnormality of digestive system physiology	55343	SLC35C1	ORPHA:99843
HP:0025032	Abnormality of digestive system physiology	5422	POLA1	OMIM:301220
HP:0025032	Abnormality of digestive system physiology	5966	REL	OMIM:619652
HP:0025032	Abnormality of digestive system physiology	5317	PKP1	ORPHA:158668
HP:0025032	Abnormality of digestive system physiology	5236	PGM1	OMIM:614921
HP:0025032	Abnormality of digestive system physiology	84433	CARD11	OMIM:617638
HP:0025032	Abnormality of digestive system physiology	4683	NBN	ORPHA:647
HP:0025032	Abnormality of digestive system physiology	915	CD3D	OMIM:615617
HP:0025032	Abnormality of digestive system physiology	721	C4B	OMIM:614379
HP:0025032	Abnormality of digestive system physiology	1794	DOCK2	OMIM:616433
HP:0025032	Abnormality of digestive system physiology	6929	TCF3	OMIM:619824
HP:0025032	Abnormality of digestive system physiology	7535	ZAP70	ORPHA:911
HP:0025032	Abnormality of digestive system physiology	3559	IL2RA	OMIM:606367
HP:0025032	Abnormality of digestive system physiology	4728	NDUFS8	OMIM:618222
HP:0025032	Abnormality of digestive system physiology	388015	RTL1	ORPHA:254534
HP:0025032	Abnormality of digestive system physiology	8788	DLK1	ORPHA:254534
HP:0025032	Abnormality of digestive system physiology	55384	MEG3	ORPHA:254534
HP:0025032	Abnormality of digestive system physiology	5913	RAPSN	OMIM:616326
HP:0025032	Abnormality of digestive system physiology	51126	NAA20	OMIM:619717
HP:0025032	Abnormality of digestive system physiology	1144	CHRND	OMIM:616323
HP:0025032	Abnormality of digestive system physiology	7360	UGP2	OMIM:618744
HP:0025032	Abnormality of digestive system physiology	1134	CHRNA1	OMIM:608930
HP:0025032	Abnormality of digestive system physiology	5830	PEX5	OMIM:214110
HP:0025032	Abnormality of digestive system physiology	10102	TSFM	OMIM:610505
HP:0025032	Abnormality of digestive system physiology	7681	MKRN3	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	3653	IPW	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	791114	PWRN1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	100033413	SNORD116-1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	8924	HERC2	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	145624	PWAR1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	23742	NPAP1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	338433	SNORD115-1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	7314	UBB	ORPHA:99772
HP:0025032	Abnormality of digestive system physiology	57822	GRHL3	ORPHA:99772
HP:0025032	Abnormality of digestive system physiology	4487	MSX1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	5818	NECTIN1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	1739	DLG1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	652	BMP4	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	8626	TP63	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	999	CDH1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	3664	IRF6	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	9411	ARHGAP29	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	1748	DLX4	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	6492	SIM1	ORPHA:171829
HP:0025032	Abnormality of digestive system physiology	51111	KMT5B	OMIM:617788
HP:0025032	Abnormality of digestive system physiology	318	NUDT2	OMIM:619844
HP:0025032	Abnormality of digestive system physiology	3417	IDH1	ORPHA:99646
HP:0025032	Abnormality of digestive system physiology	1145	CHRNE	OMIM:605809
HP:0025032	Abnormality of digestive system physiology	6601	SMARCC2	OMIM:618362
HP:0025032	Abnormality of digestive system physiology	1272	CNTN1	OMIM:612540
HP:0025032	Abnormality of digestive system physiology	8289	ARID1A	OMIM:614607
HP:0025032	Abnormality of digestive system physiology	91647	ATPAF2	OMIM:604273
HP:0025032	Abnormality of digestive system physiology	55687	TRMU	ORPHA:254864
HP:0025032	Abnormality of digestive system physiology	25930	PTPN23	OMIM:618890
HP:0025032	Abnormality of digestive system physiology	55065	SLC52A1	OMIM:615026
HP:0025032	Abnormality of digestive system physiology	2783	GNB2	OMIM:619503
HP:0025032	Abnormality of digestive system physiology	5193	PEX12	OMIM:614859
HP:0025032	Abnormality of digestive system physiology	4534	MTM1	ORPHA:596
HP:0025032	Abnormality of digestive system physiology	9453	GGPS1	OMIM:619518
HP:0025032	Abnormality of digestive system physiology	5828	PEX2	OMIM:614866
HP:0025032	Abnormality of digestive system physiology	3032	HADHB	ORPHA:746
HP:0025032	Abnormality of digestive system physiology	3030	HADHA	ORPHA:746
HP:0025032	Abnormality of digestive system physiology	25915	NDUFAF3	ORPHA:70474
HP:0025032	Abnormality of digestive system physiology	4714	NDUFB8	ORPHA:70474
HP:0025032	Abnormality of digestive system physiology	4720	NDUFS2	ORPHA:70474
HP:0025032	Abnormality of digestive system physiology	9997	SCO2	ORPHA:70474
HP:0025032	Abnormality of digestive system physiology	6834	SURF1	ORPHA:70474
HP:0025032	Abnormality of digestive system physiology	7385	UQCRC2	OMIM:615160
HP:0025032	Abnormality of digestive system physiology	7204	TRIO	ORPHA:476126
HP:0025032	Abnormality of digestive system physiology	1806	DPYD	ORPHA:1675
HP:0025032	Abnormality of digestive system physiology	8292	COLQ	ORPHA:98915
HP:0025032	Abnormality of digestive system physiology	3913	LAMB2	ORPHA:98915
HP:0025032	Abnormality of digestive system physiology	7443	VRK1	OMIM:607596
HP:0025032	Abnormality of digestive system physiology	60386	SLC25A19	OMIM:607196
HP:0025032	Abnormality of digestive system physiology	10084	PQBP1	OMIM:309500
HP:0025032	Abnormality of digestive system physiology	5805	PTS	OMIM:261640
HP:0025032	Abnormality of digestive system physiology	7317	UBA1	ORPHA:1145
HP:0025032	Abnormality of digestive system physiology	5824	PEX19	OMIM:614886
HP:0025032	Abnormality of digestive system physiology	129285	PPP1R21	OMIM:619383
HP:0025032	Abnormality of digestive system physiology	2742	GLRA2	OMIM:301076
HP:0025032	Abnormality of digestive system physiology	1892	ECHS1	OMIM:616277
HP:0025032	Abnormality of digestive system physiology	867	CBL	OMIM:613563
HP:0025032	Abnormality of digestive system physiology	1140	CHRNB1	OMIM:616313
HP:0025032	Abnormality of digestive system physiology	9373	PLAA	OMIM:617527
HP:0025032	Abnormality of digestive system physiology	6664	SOX11	OMIM:615866
HP:0025032	Abnormality of digestive system physiology	79751	SLC25A22	ORPHA:1935
HP:0025032	Abnormality of digestive system physiology	150094	SIK1	ORPHA:1935
HP:0025032	Abnormality of digestive system physiology	6888	TALDO1	OMIM:606003
HP:0025032	Abnormality of digestive system physiology	2165	F13B	ORPHA:331
HP:0025032	Abnormality of digestive system physiology	2162	F13A1	ORPHA:331
HP:0025032	Abnormality of digestive system physiology	7454	WAS	OMIM:301000
HP:0025032	Abnormality of digestive system physiology	7454	WAS	ORPHA:906
HP:0025032	Abnormality of digestive system physiology	55612	FERMT1	ORPHA:2908
HP:0025032	Abnormality of digestive system physiology	331	XIAP	OMIM:300635
HP:0025032	Abnormality of digestive system physiology	10616	RBCK1	OMIM:615895
HP:0025032	Abnormality of digestive system physiology	5243	ABCB1	OMIM:612244
HP:0025032	Abnormality of digestive system physiology	3257	HPS1	OMIM:203300
HP:0025032	Abnormality of digestive system physiology	987	LRBA	OMIM:614700
HP:0025032	Abnormality of digestive system physiology	7456	WIPF1	ORPHA:906
HP:0025032	Abnormality of digestive system physiology	8737	RIPK1	OMIM:618108
HP:0025032	Abnormality of digestive system physiology	10095	ARPC1B	OMIM:617718
HP:0025032	Abnormality of digestive system physiology	2000	ELF4	OMIM:301074
HP:0025032	Abnormality of digestive system physiology	64127	NOD2	OMIM:266600
HP:0025032	Abnormality of digestive system physiology	3569	IL6	OMIM:266600
HP:0025032	Abnormality of digestive system physiology	57511	COG6	OMIM:614576
HP:0025032	Abnormality of digestive system physiology	345611	IRGM	OMIM:612278
HP:0025032	Abnormality of digestive system physiology	59067	IL21	OMIM:615767
HP:0025032	Abnormality of digestive system physiology	64858	DCLRE1B	OMIM:620133
HP:0025032	Abnormality of digestive system physiology	27249	MMADHC	ORPHA:79283
HP:0025032	Abnormality of digestive system physiology	9054	NFS1	OMIM:619386
HP:0025032	Abnormality of digestive system physiology	727	C5	OMIM:609536
HP:0025032	Abnormality of digestive system physiology	6603	SMARCD2	OMIM:617475
HP:0025032	Abnormality of digestive system physiology	84665	MYPN	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	390594	KBTBD13	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	875	CBS	ORPHA:394
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	ORPHA:274
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	OMIM:231200
HP:0025032	Abnormality of digestive system physiology	2815	GP9	ORPHA:274
HP:0025032	Abnormality of digestive system physiology	2815	GP9	OMIM:231200
HP:0025032	Abnormality of digestive system physiology	5351	PLOD1	OMIM:225400
HP:0025032	Abnormality of digestive system physiology	7148	TNXB	ORPHA:230839
HP:0025032	Abnormality of digestive system physiology	2158	F9	OMIM:306900
HP:0025032	Abnormality of digestive system physiology	843	CASP10	OMIM:603909
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	ORPHA:849
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	OMIM:273800
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	3690	ITGB3	ORPHA:849
HP:0025032	Abnormality of digestive system physiology	3690	ITGB3	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	55109	AGGF1	ORPHA:90308
HP:0025032	Abnormality of digestive system physiology	2160	F11	ORPHA:329
HP:0025032	Abnormality of digestive system physiology	2159	F10	ORPHA:328
HP:0025032	Abnormality of digestive system physiology	9103	FCGR2C	ORPHA:3002
HP:0025032	Abnormality of digestive system physiology	3248	HPGD	ORPHA:2796
HP:0025032	Abnormality of digestive system physiology	6578	SLCO2A1	ORPHA:2796
HP:0025032	Abnormality of digestive system physiology	2155	F7	ORPHA:327
HP:0025032	Abnormality of digestive system physiology	7450	VWF	OMIM:193400
HP:0025032	Abnormality of digestive system physiology	2243	FGA	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2243	FGA	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	2244	FGB	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2244	FGB	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	2266	FGG	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2266	FGG	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	5054	SERPINE1	ORPHA:465
HP:0025032	Abnormality of digestive system physiology	368	ABCC6	OMIM:177850
HP:0025032	Abnormality of digestive system physiology	368	ABCC6	OMIM:264800
HP:0025032	Abnormality of digestive system physiology	368	ABCC6	ORPHA:758
HP:0025032	Abnormality of digestive system physiology	64131	XYLT1	OMIM:264800
HP:0025032	Abnormality of digestive system physiology	64132	XYLT2	OMIM:264800
HP:0025032	Abnormality of digestive system physiology	3998	LMAN1	ORPHA:35909
HP:0025032	Abnormality of digestive system physiology	90411	MCFD2	ORPHA:35909
HP:0025032	Abnormality of digestive system physiology	10165	SLC25A13	ORPHA:247598
HP:0025032	Abnormality of digestive system physiology	3516	RBPJ	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	4851	NOTCH1	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	57514	ARHGAP31	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	57572	DOCK6	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	285203	EOGT	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	54567	DLL4	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	3673	ITGA2	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	135228	CD109	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	199221	DZIP1L	ORPHA:731
HP:0025032	Abnormality of digestive system physiology	2157	F8	ORPHA:169805
HP:0025032	Abnormality of digestive system physiology	2157	F8	ORPHA:169802
HP:0025032	Abnormality of digestive system physiology	2147	F2	OMIM:613679
HP:0025032	Abnormality of digestive system physiology	4615	MYD88	ORPHA:33226
HP:0025032	Abnormality of digestive system physiology	5167	ENPP1	ORPHA:758
HP:0025032	Abnormality of digestive system physiology	8328	GFI1B	OMIM:187900
HP:0025032	Abnormality of digestive system physiology	9493	KIF23	ORPHA:98870
HP:0025032	Abnormality of digestive system physiology	29127	RACGAP1	ORPHA:98870
HP:0025032	Abnormality of digestive system physiology	57169	ZNFX1	OMIM:619644
HP:0025032	Abnormality of digestive system physiology	2538	G6PC1	OMIM:232200
HP:0025032	Abnormality of digestive system physiology	2627	GATA6	ORPHA:2255
HP:0025032	Abnormality of digestive system physiology	55699	IARS2	OMIM:616007
HP:0025032	Abnormality of digestive system physiology	55699	IARS2	ORPHA:436174
HP:0025032	Abnormality of digestive system physiology	8086	AAAS	ORPHA:869
HP:0025032	Abnormality of digestive system physiology	8086	AAAS	OMIM:231550
HP:0025032	Abnormality of digestive system physiology	763	CA5A	OMIM:615751
HP:0025032	Abnormality of digestive system physiology	728294	D2HGDH	OMIM:600721
HP:0025032	Abnormality of digestive system physiology	11235	PDCD10	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	83605	CCM2	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	889	KRIT1	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	2593	GAMT	OMIM:612736
HP:0025032	Abnormality of digestive system physiology	2710	GK	OMIM:307030
HP:0025032	Abnormality of digestive system physiology	4511	MT-TC	OMIM:540000
HP:0025032	Abnormality of digestive system physiology	6821	SUOX	OMIM:272300
HP:0025032	Abnormality of digestive system physiology	26585	GREM1	ORPHA:157794
HP:0025032	Abnormality of digestive system physiology	219972	MPEG1	OMIM:619223
HP:0025032	Abnormality of digestive system physiology	54968	TMEM70	OMIM:614052
HP:0025032	Abnormality of digestive system physiology	5610	EIF2AK2	OMIM:618877
HP:0025032	Abnormality of digestive system physiology	28982	FLVCR1	ORPHA:88628
HP:0025032	Abnormality of digestive system physiology	815	CAMK2A	OMIM:617798
HP:0025032	Abnormality of digestive system physiology	59335	PRDM12	OMIM:616488
HP:0025032	Abnormality of digestive system physiology	1019	CDK4	ORPHA:99971
HP:0025032	Abnormality of digestive system physiology	4193	MDM2	ORPHA:99971
HP:0025032	Abnormality of digestive system physiology	55148	UBR7	OMIM:619189
HP:0025032	Abnormality of digestive system physiology	356	FASLG	ORPHA:3261
HP:0025032	Abnormality of digestive system physiology	5580	PRKCD	ORPHA:3261
HP:0025032	Abnormality of digestive system physiology	10125	RASGRP1	ORPHA:3261
HP:0025032	Abnormality of digestive system physiology	7128	TNFAIP3	OMIM:616744
HP:0025032	Abnormality of digestive system physiology	10625	IVNS1ABP	OMIM:618969
HP:0025032	Abnormality of digestive system physiology	338328	GPIHBP1	OMIM:615947
HP:0025032	Abnormality of digestive system physiology	9255	AIMP1	OMIM:260600
HP:0025032	Abnormality of digestive system physiology	26153	KIF26A	OMIM:620156
HP:0025032	Abnormality of digestive system physiology	1399	CRKL	ORPHA:261330
HP:0025032	Abnormality of digestive system physiology	3670	ISL1	ORPHA:93930
HP:0025032	Abnormality of digestive system physiology	6253	RTN2	ORPHA:100993
HP:0025032	Abnormality of digestive system physiology	51271	UBAP1	ORPHA:100993
HP:0025032	Abnormality of digestive system physiology	80217	CFAP43	OMIM:236690
HP:0025032	Abnormality of digestive system physiology	65992	DDRGK1	OMIM:602557
HP:0025032	Abnormality of digestive system physiology	65992	DDRGK1	ORPHA:93352
HP:0025032	Abnormality of digestive system physiology	57539	WDR35	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	2050	EPHB4	OMIM:617300
HP:0025032	Abnormality of digestive system physiology	341640	FREM2	OMIM:617666
HP:0025032	Abnormality of digestive system physiology	10683	DLL3	OMIM:277300
HP:0025032	Abnormality of digestive system physiology	145873	MESP2	OMIM:277300
HP:0025032	Abnormality of digestive system physiology	3643	INSR	OMIM:246200
HP:0025032	Abnormality of digestive system physiology	3643	INSR	ORPHA:508
HP:0025032	Abnormality of digestive system physiology	26175	LYSET	OMIM:619345
HP:0025032	Abnormality of digestive system physiology	1836	SLC26A2	OMIM:600972
HP:0025032	Abnormality of digestive system physiology	79770	TXNDC15	OMIM:619879
HP:0025032	Abnormality of digestive system physiology	10653	SPINT2	OMIM:270420
HP:0025032	Abnormality of digestive system physiology	50485	SMARCAL1	ORPHA:1830
HP:0025032	Abnormality of digestive system physiology	1811	SLC26A3	OMIM:214700
HP:0025032	Abnormality of digestive system physiology	9321	TRIP11	ORPHA:93299
HP:0025032	Abnormality of digestive system physiology	5836	PYGL	ORPHA:369
HP:0025032	Abnormality of digestive system physiology	205327	C2orf69	OMIM:619423
HP:0025032	Abnormality of digestive system physiology	916	CD3E	ORPHA:169160
HP:0025032	Abnormality of digestive system physiology	919	CD247	ORPHA:169160
HP:0025032	Abnormality of digestive system physiology	919	CD247	OMIM:610163
HP:0025032	Abnormality of digestive system physiology	5994	RFXAP	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	5994	RFXAP	OMIM:209920
HP:0025032	Abnormality of digestive system physiology	4261	CIITA	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	4261	CIITA	OMIM:209920
HP:0025032	Abnormality of digestive system physiology	5993	RFX5	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	5993	RFX5	OMIM:209920
HP:0025032	Abnormality of digestive system physiology	8625	RFXANK	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	8625	RFXANK	OMIM:209920
HP:0025032	Abnormality of digestive system physiology	3932	LCK	OMIM:615758
HP:0025032	Abnormality of digestive system physiology	4645	MYO5B	OMIM:251850
HP:0025032	Abnormality of digestive system physiology	1308	COL17A1	ORPHA:79406
HP:0025032	Abnormality of digestive system physiology	58484	NLRC4	OMIM:616050
HP:0025032	Abnormality of digestive system physiology	6772	STAT1	ORPHA:391487
HP:0025032	Abnormality of digestive system physiology	57217	TTC7A	OMIM:243150
HP:0025032	Abnormality of digestive system physiology	3587	IL10RA	OMIM:613148
HP:0025032	Abnormality of digestive system physiology	5336	PLCG2	OMIM:614878
HP:0025032	Abnormality of digestive system physiology	3588	IL10RB	OMIM:612567
HP:0025032	Abnormality of digestive system physiology	151648	SGO1	OMIM:616201
HP:0025032	Abnormality of digestive system physiology	51608	GET4	OMIM:620200
HP:0025032	Abnormality of digestive system physiology	84701	COX4I2	OMIM:612714
HP:0025032	Abnormality of digestive system physiology	134218	DNAJC21	ORPHA:811
HP:0025032	Abnormality of digestive system physiology	51119	SBDS	ORPHA:811
HP:0025032	Abnormality of digestive system physiology	3858	KRT10	ORPHA:312
HP:0025032	Abnormality of digestive system physiology	3848	KRT1	ORPHA:312
HP:0025032	Abnormality of digestive system physiology	613	BCR	ORPHA:521
HP:0025032	Abnormality of digestive system physiology	221496	LEMD2	OMIM:619322
HP:0025032	Abnormality of digestive system physiology	79971	WLS	OMIM:619648
HP:0025032	Abnormality of digestive system physiology	3033	HADH	OMIM:231530
HP:0025032	Abnormality of digestive system physiology	85476	GFM1	OMIM:609060
HP:0025032	Abnormality of digestive system physiology	3875	KRT18	OMIM:215600
HP:0025032	Abnormality of digestive system physiology	4068	SH2D1A	OMIM:308240
HP:0025032	Abnormality of digestive system physiology	57379	AICDA	OMIM:605258
HP:0025032	Abnormality of digestive system physiology	11005	SPINK5	OMIM:256500
HP:0025032	Abnormality of digestive system physiology	83483	PLVAP	OMIM:618183
HP:0025032	Abnormality of digestive system physiology	5159	PDGFRB	ORPHA:2591
HP:0025032	Abnormality of digestive system physiology	6905	TBCE	ORPHA:2323
HP:0025032	Abnormality of digestive system physiology	4791	NFKB2	OMIM:615577
HP:0025032	Abnormality of digestive system physiology	30011	SH3KBP1	OMIM:300310
HP:0025032	Abnormality of digestive system physiology	1281	COL3A1	ORPHA:286
HP:0025032	Abnormality of digestive system physiology	7010	TEK	ORPHA:1059
HP:0025032	Abnormality of digestive system physiology	3593	IL12B	ORPHA:3287
HP:0025032	Abnormality of digestive system physiology	6945	MLX	ORPHA:3287
HP:0025032	Abnormality of digestive system physiology	567	B2M	ORPHA:314652
HP:0025032	Abnormality of digestive system physiology	60561	RINT1	OMIM:618641
HP:0025032	Abnormality of digestive system physiology	51520	LARS1	OMIM:615438
HP:0025032	Abnormality of digestive system physiology	9451	EIF2AK3	ORPHA:1667
HP:0025032	Abnormality of digestive system physiology	64116	SLC39A8	ORPHA:468699
HP:0025032	Abnormality of digestive system physiology	4358	MPV17	OMIM:256810
HP:0025032	Abnormality of digestive system physiology	3155	HMGCL	ORPHA:20
HP:0025032	Abnormality of digestive system physiology	2203	FBP1	ORPHA:348
HP:0025032	Abnormality of digestive system physiology	25839	COG4	ORPHA:263501
HP:0025032	Abnormality of digestive system physiology	4864	NPC1	OMIM:257220
HP:0025032	Abnormality of digestive system physiology	343641	TGM6	OMIM:613908
HP:0025032	Abnormality of digestive system physiology	343641	TGM6	ORPHA:276193
HP:0025032	Abnormality of digestive system physiology	5654	HTRA1	ORPHA:199354
HP:0025032	Abnormality of digestive system physiology	5917	RARS1	OMIM:616140
HP:0025032	Abnormality of digestive system physiology	5917	RARS1	ORPHA:438114
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	OMIM:606353
HP:0025032	Abnormality of digestive system physiology	2583	B4GALNT1	ORPHA:101006
HP:0025032	Abnormality of digestive system physiology	23503	ZFYVE26	ORPHA:100996
HP:0025032	Abnormality of digestive system physiology	60	ACTB	OMIM:607371
HP:0025032	Abnormality of digestive system physiology	4854	NOTCH3	OMIM:125310
HP:0025032	Abnormality of digestive system physiology	9131	AIFM1	ORPHA:238329
HP:0025032	Abnormality of digestive system physiology	7528	YY1	ORPHA:506358
HP:0025032	Abnormality of digestive system physiology	4524	MTHFR	ORPHA:395
HP:0025032	Abnormality of digestive system physiology	4621	MYH3	ORPHA:2053
HP:0025032	Abnormality of digestive system physiology	4621	MYH3	OMIM:193700
HP:0025032	Abnormality of digestive system physiology	199857	ALG14	OMIM:619036
HP:0025032	Abnormality of digestive system physiology	51399	TRAPPC4	OMIM:618741
HP:0025032	Abnormality of digestive system physiology	1024	CDK8	OMIM:618748
HP:0025032	Abnormality of digestive system physiology	145173	B3GLCT	ORPHA:709
HP:0025032	Abnormality of digestive system physiology	145173	B3GLCT	OMIM:261540
HP:0025032	Abnormality of digestive system physiology	22800	RRAS2	OMIM:618624
HP:0025032	Abnormality of digestive system physiology	22800	RRAS2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	2067	ERCC1	ORPHA:90322
HP:0025032	Abnormality of digestive system physiology	2067	ERCC1	ORPHA:1466
HP:0025032	Abnormality of digestive system physiology	3481	IGF2	ORPHA:231140
HP:0025032	Abnormality of digestive system physiology	3481	IGF2	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	6341	SCO1	OMIM:619048
HP:0025032	Abnormality of digestive system physiology	1352	COX10	OMIM:619046
HP:0025032	Abnormality of digestive system physiology	25782	RAB3GAP2	OMIM:212720
HP:0025032	Abnormality of digestive system physiology	25782	RAB3GAP2	ORPHA:1387
HP:0025032	Abnormality of digestive system physiology	9382	COG1	OMIM:611209
HP:0025032	Abnormality of digestive system physiology	63908	NAPB	OMIM:620033
HP:0025032	Abnormality of digestive system physiology	2263	FGFR2	ORPHA:87
HP:0025032	Abnormality of digestive system physiology	2263	FGFR2	OMIM:123790
HP:0025032	Abnormality of digestive system physiology	56992	KIF15	ORPHA:261323
HP:0025032	Abnormality of digestive system physiology	170302	ARX	OMIM:300215
HP:0025032	Abnormality of digestive system physiology	57492	ARID1B	OMIM:135900
HP:0025032	Abnormality of digestive system physiology	146862	UNC45B	OMIM:619178
HP:0025032	Abnormality of digestive system physiology	274	BIN1	OMIM:255200
HP:0025032	Abnormality of digestive system physiology	10381	TUBB3	ORPHA:300570
HP:0025032	Abnormality of digestive system physiology	686	BTD	OMIM:253260
HP:0025032	Abnormality of digestive system physiology	55681	SCYL2	OMIM:618766
HP:0025032	Abnormality of digestive system physiology	170825	GSX2	OMIM:618646
HP:0025032	Abnormality of digestive system physiology	157680	VPS13B	OMIM:216550
HP:0025032	Abnormality of digestive system physiology	157680	VPS13B	ORPHA:193
HP:0025032	Abnormality of digestive system physiology	26053	AUTS2	ORPHA:352490
HP:0025032	Abnormality of digestive system physiology	7386	UQCRFS1	OMIM:618775
HP:0025032	Abnormality of digestive system physiology	88	ACTN2	OMIM:618654
HP:0025032	Abnormality of digestive system physiology	833	CARS1	OMIM:618891
HP:0025032	Abnormality of digestive system physiology	5813	PURA	ORPHA:438216
HP:0025032	Abnormality of digestive system physiology	5813	PURA	ORPHA:314655
HP:0025032	Abnormality of digestive system physiology	1641	DCX	ORPHA:2148
HP:0025032	Abnormality of digestive system physiology	284184	NDUFAF8	OMIM:618776
HP:0025032	Abnormality of digestive system physiology	51021	MRPS16	OMIM:610498
HP:0025032	Abnormality of digestive system physiology	56922	MCCC1	OMIM:210200
HP:0025032	Abnormality of digestive system physiology	6602	SMARCD1	OMIM:618779
HP:0025032	Abnormality of digestive system physiology	5373	PMM2	OMIM:212065
HP:0025032	Abnormality of digestive system physiology	79600	TCTN1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	54806	AHI1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	153241	CEP120	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	153241	CEP120	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	65250	CPLANE1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	65250	CPLANE1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	91147	TMEM67	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	91147	TMEM67	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	200894	ARL13B	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	9731	CEP104	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	219844	HYLS1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	23247	KATNIP	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	219854	TMEM218	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	54903	MKS1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	95681	CEP41	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	56623	INPP5E	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	56623	INPP5E	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	79867	TCTN2	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	80776	B9D2	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	10464	PIBF1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	80210	ARMC9	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	23116	TOGARAM1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	25776	CBY1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	27077	B9D1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	403	ARL3	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	65062	TMEM237	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	55112	DYNC2I1	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	57560	IFT80	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	51626	DYNC2LI1	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	79659	DYNC2H1	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	9742	IFT140	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	57728	WDR19	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	89891	DYNC2I2	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	79809	TTC21B	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	1629	DBT	OMIM:248600
HP:0025032	Abnormality of digestive system physiology	593	BCKDHA	OMIM:248600
HP:0025032	Abnormality of digestive system physiology	594	BCKDHB	OMIM:248600
HP:0025032	Abnormality of digestive system physiology	9091	PIGQ	OMIM:618548
HP:0025032	Abnormality of digestive system physiology	58	ACTA1	OMIM:161800
HP:0025032	Abnormality of digestive system physiology	80025	PANK2	OMIM:234200
HP:0025032	Abnormality of digestive system physiology	166785	MMAA	OMIM:251100
HP:0025032	Abnormality of digestive system physiology	10907	TXNL4A	OMIM:608572
HP:0025032	Abnormality of digestive system physiology	10436	EMG1	ORPHA:1270
HP:0025032	Abnormality of digestive system physiology	2548	GAA	ORPHA:308552
HP:0025032	Abnormality of digestive system physiology	4849	CNOT3	OMIM:618672
HP:0025032	Abnormality of digestive system physiology	1028	CDKN1C	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	5324	PLAG1	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	5324	PLAG1	OMIM:618907
HP:0025032	Abnormality of digestive system physiology	8091	HMGA2	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	8091	HMGA2	OMIM:618908
HP:0025032	Abnormality of digestive system physiology	200424	TET3	OMIM:618798
HP:0025032	Abnormality of digestive system physiology	79633	FAT4	ORPHA:314679
HP:0025032	Abnormality of digestive system physiology	8642	DCHS1	ORPHA:314679
HP:0025032	Abnormality of digestive system physiology	10667	FARS2	ORPHA:466722
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:98754
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:177904
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:177901
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:177910
HP:0025032	Abnormality of digestive system physiology	3977	LIFR	ORPHA:3206
HP:0025032	Abnormality of digestive system physiology	644096	SDHAF1	ORPHA:3208
HP:0025032	Abnormality of digestive system physiology	22930	RAB3GAP1	ORPHA:1387
HP:0025032	Abnormality of digestive system physiology	84295	PHF6	ORPHA:127
HP:0025032	Abnormality of digestive system physiology	701	BUB1B	OMIM:257300
HP:0025032	Abnormality of digestive system physiology	8726	EED	ORPHA:3447
HP:0025032	Abnormality of digestive system physiology	23512	SUZ12	ORPHA:3447
HP:0025032	Abnormality of digestive system physiology	2146	EZH2	ORPHA:3447
HP:0025032	Abnormality of digestive system physiology	6567	SLC16A2	ORPHA:59
HP:0025032	Abnormality of digestive system physiology	6567	SLC16A2	OMIM:300523
HP:0025032	Abnormality of digestive system physiology	3329	HSPD1	OMIM:612233
HP:0025032	Abnormality of digestive system physiology	57724	EPG5	ORPHA:1493
HP:0025032	Abnormality of digestive system physiology	84705	GTPBP3	ORPHA:444013
HP:0025032	Abnormality of digestive system physiology	1291	COL6A1	OMIM:254090
HP:0025032	Abnormality of digestive system physiology	1292	COL6A2	OMIM:254090
HP:0025032	Abnormality of digestive system physiology	1293	COL6A3	OMIM:254090
HP:0025032	Abnormality of digestive system physiology	51728	POLR3K	OMIM:619310
HP:0025032	Abnormality of digestive system physiology	55593	OTUD5	OMIM:301056
HP:0025032	Abnormality of digestive system physiology	11277	TREX1	OMIM:225750
HP:0025032	Abnormality of digestive system physiology	29954	POMT2	OMIM:236670
HP:0025032	Abnormality of digestive system physiology	9215	LARGE1	OMIM:236670
HP:0025032	Abnormality of digestive system physiology	79147	FKRP	OMIM:236670
HP:0025032	Abnormality of digestive system physiology	2218	FKTN	OMIM:236670
HP:0025032	Abnormality of digestive system physiology	8869	ST3GAL5	OMIM:609056
HP:0025032	Abnormality of digestive system physiology	5980	REV3L	ORPHA:570
HP:0025032	Abnormality of digestive system physiology	23129	PLXND1	ORPHA:570
HP:0025032	Abnormality of digestive system physiology	7084	TK2	ORPHA:254875
HP:0025032	Abnormality of digestive system physiology	84340	GFM2	ORPHA:565624
HP:0025032	Abnormality of digestive system physiology	2073	ERCC5	ORPHA:1466
HP:0025032	Abnormality of digestive system physiology	7169	TPM2	OMIM:609285
HP:0025032	Abnormality of digestive system physiology	5604	MAP2K1	ORPHA:1340
HP:0025032	Abnormality of digestive system physiology	5604	MAP2K1	OMIM:163950
HP:0025032	Abnormality of digestive system physiology	5605	MAP2K2	ORPHA:1340
HP:0025032	Abnormality of digestive system physiology	128989	TANGO2	ORPHA:480864
HP:0025032	Abnormality of digestive system physiology	6045	RNF2	OMIM:619460
HP:0025032	Abnormality of digestive system physiology	29968	PSAT1	ORPHA:284417
HP:0025032	Abnormality of digestive system physiology	6329	SCN4A	ORPHA:682
HP:0025032	Abnormality of digestive system physiology	55163	PNPO	OMIM:610090
HP:0025032	Abnormality of digestive system physiology	22808	MRAS	OMIM:618499
HP:0025032	Abnormality of digestive system physiology	22808	MRAS	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	11342	RNF13	OMIM:618379
HP:0025032	Abnormality of digestive system physiology	51300	TIMMDC1	OMIM:618251
HP:0025032	Abnormality of digestive system physiology	7403	KDM6A	OMIM:300867
HP:0025032	Abnormality of digestive system physiology	7403	KDM6A	OMIM:147920
HP:0025032	Abnormality of digestive system physiology	84818	IL17RC	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	64581	CLEC7A	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	23765	IL17RA	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	112744	IL17F	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	128637	TBC1D20	OMIM:615663
HP:0025032	Abnormality of digestive system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	57545	CC2D2A	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	55210	ATAD3A	OMIM:618810
HP:0025032	Abnormality of digestive system physiology	25939	SAMHD1	OMIM:612952
HP:0025032	Abnormality of digestive system physiology	4548	MTR	OMIM:250940
HP:0025032	Abnormality of digestive system physiology	9343	EFTUD2	OMIM:610536
HP:0025032	Abnormality of digestive system physiology	326625	MMAB	OMIM:251110
HP:0025032	Abnormality of digestive system physiology	84172	POLR1B	OMIM:618939
HP:0025032	Abnormality of digestive system physiology	6197	RPS6KA3	ORPHA:192
HP:0025032	Abnormality of digestive system physiology	410	ARSA	ORPHA:309256
HP:0025032	Abnormality of digestive system physiology	4337	MOCS1	OMIM:252150
HP:0025032	Abnormality of digestive system physiology	435	ASL	OMIM:207900
HP:0025032	Abnormality of digestive system physiology	23545	ATP6V0A2	OMIM:219200
HP:0025032	Abnormality of digestive system physiology	6452	SH3BP2	ORPHA:184
HP:0025032	Abnormality of digestive system physiology	90522	YIF1B	OMIM:619125
HP:0025032	Abnormality of digestive system physiology	51305	KCNK9	OMIM:612292
HP:0025032	Abnormality of digestive system physiology	9326	ZNHIT3	OMIM:260565
HP:0025032	Abnormality of digestive system physiology	90416	CCDC32	OMIM:619123
HP:0025032	Abnormality of digestive system physiology	617	BCS1L	OMIM:124000
HP:0025032	Abnormality of digestive system physiology	55252	ASXL2	OMIM:617190
HP:0025032	Abnormality of digestive system physiology	5879	RAC1	OMIM:617751
HP:0025032	Abnormality of digestive system physiology	5879	RAC1	ORPHA:500159
HP:0025032	Abnormality of digestive system physiology	2193	FARSA	OMIM:619013
HP:0025032	Abnormality of digestive system physiology	51780	KDM3B	OMIM:618846
HP:0025032	Abnormality of digestive system physiology	8481	OFD1	OMIM:300804
HP:0025032	Abnormality of digestive system physiology	8481	OFD1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	2806	GOT2	OMIM:618721
HP:0025032	Abnormality of digestive system physiology	284058	KANSL1	OMIM:610443
HP:0025032	Abnormality of digestive system physiology	3295	HSD17B4	OMIM:261515
HP:0025032	Abnormality of digestive system physiology	8216	LZTR1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6016	RIT1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6237	RRAS	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5894	RAF1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	200734	SPRED2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	4893	NRAS	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6654	SOS1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6655	SOS2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5781	PTPN11	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5781	PTPN11	OMIM:163950
HP:0025032	Abnormality of digestive system physiology	5922	RASA2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	4848	CNOT2	OMIM:618608
HP:0025032	Abnormality of digestive system physiology	1807	DPYS	OMIM:222748
HP:0025032	Abnormality of digestive system physiology	10210	TOPORS	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	26123	TCTN3	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	5147	PDE6D	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	51259	TMEM216	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	317662	FAM149B1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	374654	KIF7	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	2036	EPB41L1	OMIM:614257
HP:0025032	Abnormality of digestive system physiology	84148	KAT8	OMIM:618974
HP:0025032	Abnormality of digestive system physiology	87178	PNPT1	OMIM:614932
HP:0025032	Abnormality of digestive system physiology	57194	ATP10A	ORPHA:411515
HP:0025032	Abnormality of digestive system physiology	25974	MMACHC	OMIM:277400
HP:0025032	Abnormality of digestive system physiology	5052	PRDX1	OMIM:277400
HP:0025032	Abnormality of digestive system physiology	9247	GCM2	ORPHA:99879
HP:0025032	Abnormality of digestive system physiology	8675	STX16	ORPHA:94089
HP:0025032	Abnormality of digestive system physiology	1351	COX8A	OMIM:619059
HP:0025032	Abnormality of digestive system physiology	10846	PDE10A	ORPHA:494526
HP:0025032	Abnormality of digestive system physiology	8218	CLTCL1	ORPHA:453510
HP:0025032	Abnormality of digestive system physiology	84706	GPT2	ORPHA:477673
HP:0025032	Abnormality of digestive system physiology	10466	COG5	ORPHA:263487
HP:0025032	Abnormality of digestive system physiology	26005	C2CD3	ORPHA:434179
HP:0025032	Abnormality of digestive system physiology	6323	SCN1A	OMIM:619317
HP:0025032	Abnormality of digestive system physiology	23345	SYNE1	ORPHA:319332
HP:0025032	Abnormality of digestive system physiology	128869	PIGU	OMIM:618590
HP:0025032	Abnormality of digestive system physiology	253959	RALGAPA1	OMIM:618797
HP:0025032	Abnormality of digestive system physiology	7358	UGDH	OMIM:618792
HP:0025032	Abnormality of digestive system physiology	80055	PGAP1	OMIM:615802
HP:0025032	Abnormality of digestive system physiology	79158	GNPTAB	ORPHA:576
HP:0025032	Abnormality of digestive system physiology	1185	CLCN6	OMIM:619173
HP:0025032	Abnormality of digestive system physiology	84720	PIGO	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	93210	PGAP3	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	284098	PIGW	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	27315	PGAP2	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	9487	PIGL	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	57107	PDSS2	ORPHA:255249
HP:0025032	Abnormality of digestive system physiology	93627	TBCK	OMIM:616900
HP:0025032	Abnormality of digestive system physiology	8560	DEGS1	OMIM:618404
HP:0025032	Abnormality of digestive system physiology	819	CAMLG	OMIM:620201
HP:0025032	Abnormality of digestive system physiology	8884	SLC5A6	OMIM:618973
HP:0025032	Abnormality of digestive system physiology	3852	KRT5	ORPHA:79396
HP:0025032	Abnormality of digestive system physiology	3861	KRT14	ORPHA:79396
HP:0025032	Abnormality of digestive system physiology	51569	UFM1	OMIM:617899
HP:0025032	Abnormality of digestive system physiology	6659	SOX4	OMIM:618506
HP:0025032	Abnormality of digestive system physiology	6659	SOX4	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	387787	LIPT2	OMIM:617668
HP:0025032	Abnormality of digestive system physiology	4867	NPHP1	ORPHA:220497
HP:0025032	Abnormality of digestive system physiology	27245	AHDC1	ORPHA:412069
HP:0025032	Abnormality of digestive system physiology	84197	POMK	OMIM:615249
HP:0025032	Abnormality of digestive system physiology	2770	GNAI1	OMIM:619854
HP:0025032	Abnormality of digestive system physiology	4330	MN1	OMIM:618774
HP:0025032	Abnormality of digestive system physiology	790955	UQCC3	OMIM:616111
HP:0025032	Abnormality of digestive system physiology	3098	HK1	OMIM:618547
HP:0025032	Abnormality of digestive system physiology	2904	GRIN2B	OMIM:616139
HP:0025032	Abnormality of digestive system physiology	4285	MIPEP	OMIM:617228
HP:0025032	Abnormality of digestive system physiology	4208	MEF2C	ORPHA:228384
HP:0025032	Abnormality of digestive system physiology	4208	MEF2C	OMIM:613443
HP:0025032	Abnormality of digestive system physiology	404672	GTF2H5	OMIM:616395
HP:0025032	Abnormality of digestive system physiology	56160	NSMCE3	OMIM:617241
HP:0025032	Abnormality of digestive system physiology	5881	RAC3	OMIM:618577
HP:0025032	Abnormality of digestive system physiology	5426	POLE	OMIM:618336
HP:0025032	Abnormality of digestive system physiology	9488	PIGB	OMIM:618580
HP:0025032	Abnormality of digestive system physiology	84894	LINGO1	OMIM:618103
HP:0025032	Abnormality of digestive system physiology	10765	KDM5B	OMIM:618109
HP:0025032	Abnormality of digestive system physiology	92335	STRADA	ORPHA:500533
HP:0025032	Abnormality of digestive system physiology	92335	STRADA	OMIM:611087
HP:0025032	Abnormality of digestive system physiology	6418	SET	OMIM:618106
HP:0025032	Abnormality of digestive system physiology	7707	ZNF148	OMIM:617260
HP:0025032	Abnormality of digestive system physiology	29887	SNX10	OMIM:615085
HP:0025032	Abnormality of digestive system physiology	5515	PPP2CA	OMIM:618354
HP:0025032	Abnormality of digestive system physiology	23114	NFASC	OMIM:618356
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	ORPHA:370968
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	OMIM:615350
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	OMIM:615351
HP:0025032	Abnormality of digestive system physiology	4052	LTBP1	OMIM:619451
HP:0025032	Abnormality of digestive system physiology	439	GET3	OMIM:620203
HP:0025032	Abnormality of digestive system physiology	50801	KCNK4	OMIM:618381
HP:0025032	Abnormality of digestive system physiology	8943	AP3D1	OMIM:617050
HP:0025032	Abnormality of digestive system physiology	57187	THOC2	OMIM:300957
HP:0025032	Abnormality of digestive system physiology	8452	CUL3	OMIM:619239
HP:0025032	Abnormality of digestive system physiology	10283	CWC27	ORPHA:166035
HP:0025032	Abnormality of digestive system physiology	10283	CWC27	OMIM:250410
HP:0025032	Abnormality of digestive system physiology	100147744	RNU7-1	OMIM:619487
HP:0025032	Abnormality of digestive system physiology	60558	GUF1	OMIM:617065
HP:0025032	Abnormality of digestive system physiology	9508	ADAMTS3	OMIM:618154
HP:0025032	Abnormality of digestive system physiology	201595	STT3B	ORPHA:370924
HP:0025032	Abnormality of digestive system physiology	201595	STT3B	OMIM:615597
HP:0025032	Abnormality of digestive system physiology	5557	PRIM1	OMIM:620005
HP:0025032	Abnormality of digestive system physiology	25821	MTO1	OMIM:614702
HP:0025032	Abnormality of digestive system physiology	55788	LMBRD1	OMIM:277380
HP:0025032	Abnormality of digestive system physiology	55788	LMBRD1	ORPHA:79284
HP:0025032	Abnormality of digestive system physiology	6662	SOX9	OMIM:114290
HP:0025032	Abnormality of digestive system physiology	771	CA12	OMIM:143860
HP:0025032	Abnormality of digestive system physiology	114034	TOE1	OMIM:614969
HP:0025032	Abnormality of digestive system physiology	54675	CRLS1	OMIM:620167
HP:0025032	Abnormality of digestive system physiology	51057	WDPCP	OMIM:217085
HP:0025032	Abnormality of digestive system physiology	501	ALDH7A1	ORPHA:3006
HP:0025032	Abnormality of digestive system physiology	11212	PLPBP	ORPHA:3006
HP:0025032	Abnormality of digestive system physiology	64919	BCL11B	OMIM:618092
HP:0025032	Abnormality of digestive system physiology	1906	EDN1	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	5332	PLCB4	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	5332	PLCB4	OMIM:614669
HP:0025032	Abnormality of digestive system physiology	2773	GNAI3	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	84947	SERAC1	OMIM:614739
HP:0025032	Abnormality of digestive system physiology	6234	RPS28	OMIM:606164
HP:0025032	Abnormality of digestive system physiology	1798	DPAGT1	ORPHA:86309
HP:0025032	Abnormality of digestive system physiology	79753	SNIP1	OMIM:614501
HP:0025032	Abnormality of digestive system physiology	55719	SLF2	OMIM:620184
HP:0025032	Abnormality of digestive system physiology	79759	ZNF668	OMIM:620194
HP:0025032	Abnormality of digestive system physiology	1737	DLAT	OMIM:245348
HP:0025032	Abnormality of digestive system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0025032	Abnormality of digestive system physiology	22907	DHX30	OMIM:617804
HP:0025032	Abnormality of digestive system physiology	7351	UCP2	ORPHA:276556
HP:0025032	Abnormality of digestive system physiology	9230	RAB11B	OMIM:617807
HP:0025032	Abnormality of digestive system physiology	10229	COQ7	OMIM:616733
HP:0025032	Abnormality of digestive system physiology	83479	DDX59	OMIM:174300
HP:0025032	Abnormality of digestive system physiology	55033	FKBP14	OMIM:614557
HP:0025032	Abnormality of digestive system physiology	90161	HS6ST2	OMIM:301025
HP:0025032	Abnormality of digestive system physiology	6597	SMARCA4	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	6597	SMARCA4	OMIM:614609
HP:0025032	Abnormality of digestive system physiology	81620	CDT1	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	81620	CDT1	OMIM:613804
HP:0025032	Abnormality of digestive system physiology	8318	CDC45	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	1349	COX7B	ORPHA:2556
HP:0025032	Abnormality of digestive system physiology	3052	HCCS	ORPHA:2556
HP:0025032	Abnormality of digestive system physiology	3868	KRT16	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3872	KRT17	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3853	KRT6A	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3854	KRT6B	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	8270	LAGE3	OMIM:301006
HP:0025032	Abnormality of digestive system physiology	11222	MRPL3	OMIM:614582
HP:0025032	Abnormality of digestive system physiology	81689	ISCA1	OMIM:617613
HP:0025032	Abnormality of digestive system physiology	9894	TELO2	ORPHA:488642
HP:0025032	Abnormality of digestive system physiology	4329	ALDH6A1	OMIM:614105
HP:0025032	Abnormality of digestive system physiology	1718	DHCR24	ORPHA:35107
HP:0025032	Abnormality of digestive system physiology	55617	TASP1	OMIM:618950
HP:0025032	Abnormality of digestive system physiology	2893	GRIA4	OMIM:617864
HP:0025032	Abnormality of digestive system physiology	4038	LRP4	OMIM:616304
HP:0025032	Abnormality of digestive system physiology	71	ACTG1	ORPHA:2995
HP:0025032	Abnormality of digestive system physiology	5087	PBX1	OMIM:617641
HP:0025032	Abnormality of digestive system physiology	5087	PBX1	ORPHA:97362
HP:0025032	Abnormality of digestive system physiology	8036	SHOC2	OMIM:607721
HP:0025032	Abnormality of digestive system physiology	104	ADARB1	OMIM:618862
HP:0025032	Abnormality of digestive system physiology	8294	H4C9	OMIM:619951
HP:0025032	Abnormality of digestive system physiology	3703	STT3A	OMIM:615596
HP:0025032	Abnormality of digestive system physiology	3703	STT3A	ORPHA:370921
HP:0025032	Abnormality of digestive system physiology	10054	UBA2	OMIM:619959
HP:0025032	Abnormality of digestive system physiology	60684	TRAPPC11	OMIM:615356
HP:0025032	Abnormality of digestive system physiology	84942	WDR73	OMIM:251300
HP:0025032	Abnormality of digestive system physiology	80155	NAA15	OMIM:617787
HP:0025032	Abnormality of digestive system physiology	10584	COLEC10	OMIM:248340
HP:0025032	Abnormality of digestive system physiology	91869	RFT1	ORPHA:244310
HP:0025032	Abnormality of digestive system physiology	91869	RFT1	OMIM:612015
HP:0025032	Abnormality of digestive system physiology	9692	PRORP	OMIM:619737
HP:0025032	Abnormality of digestive system physiology	9581	PREPL	OMIM:616224
HP:0025032	Abnormality of digestive system physiology	1656	DDX6	OMIM:618653
HP:0025032	Abnormality of digestive system physiology	54872	PIGG	ORPHA:488635
HP:0025032	Abnormality of digestive system physiology	26057	ANKRD17	OMIM:619504
HP:0025032	Abnormality of digestive system physiology	1182	CLCN3	OMIM:619512
HP:0025032	Abnormality of digestive system physiology	1182	CLCN3	OMIM:619517
HP:0025032	Abnormality of digestive system physiology	7862	BRPF1	OMIM:617333
HP:0025032	Abnormality of digestive system physiology	145258	GSC	OMIM:602471
HP:0025032	Abnormality of digestive system physiology	55120	FANCL	OMIM:614083
HP:0025032	Abnormality of digestive system physiology	10463	SLC30A9	OMIM:617595
HP:0025032	Abnormality of digestive system physiology	51227	PIGP	OMIM:617599
HP:0025032	Abnormality of digestive system physiology	1107	CHD3	OMIM:618205
HP:0025032	Abnormality of digestive system physiology	29929	ALG6	ORPHA:79320
HP:0025032	Abnormality of digestive system physiology	27247	NFU1	OMIM:605711
HP:0025032	Abnormality of digestive system physiology	57505	AARS2	OMIM:614096
HP:0025032	Abnormality of digestive system physiology	8295	TRRAP	OMIM:618454
HP:0025032	Abnormality of digestive system physiology	6927	HNF1A	ORPHA:324575
HP:0025032	Abnormality of digestive system physiology	3658	IREB2	OMIM:618451
HP:0025032	Abnormality of digestive system physiology	5587	PRKD1	OMIM:617364
HP:0025032	Abnormality of digestive system physiology	51422	PRKAG2	OMIM:261740
HP:0025032	Abnormality of digestive system physiology	9759	HDAC4	OMIM:619797
HP:0025032	Abnormality of digestive system physiology	9759	HDAC4	OMIM:600430
HP:0025032	Abnormality of digestive system physiology	30000	TNPO2	OMIM:619556
HP:0025032	Abnormality of digestive system physiology	79868	ALG13	OMIM:300884
HP:0025032	Abnormality of digestive system physiology	2530	FUT8	OMIM:618005
HP:0025032	Abnormality of digestive system physiology	7965	AIMP2	OMIM:618006
HP:0025032	Abnormality of digestive system physiology	11340	EXOSC8	OMIM:616081
HP:0025032	Abnormality of digestive system physiology	11340	EXOSC8	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	3975	LHX1	ORPHA:261265
HP:0025032	Abnormality of digestive system physiology	6928	HNF1B	ORPHA:261265
HP:0025032	Abnormality of digestive system physiology	35	ACADS	OMIM:201470
HP:0025032	Abnormality of digestive system physiology	35	ACADS	ORPHA:26792
HP:0025032	Abnormality of digestive system physiology	6566	SLC16A1	OMIM:616095
HP:0025032	Abnormality of digestive system physiology	23287	AGTPBP1	OMIM:618276
HP:0025032	Abnormality of digestive system physiology	23287	AGTPBP1	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	23529	CLCF1	OMIM:610313
HP:0025032	Abnormality of digestive system physiology	23529	CLCF1	ORPHA:1545
HP:0025032	Abnormality of digestive system physiology	118924	FRA10AC1	OMIM:620113
HP:0025032	Abnormality of digestive system physiology	124454	EARS2	OMIM:614924
HP:0025032	Abnormality of digestive system physiology	1719	DHFR	OMIM:613839
HP:0025032	Abnormality of digestive system physiology	23299	BICD2	OMIM:618291
HP:0025032	Abnormality of digestive system physiology	221927	BRAT1	OMIM:618056
HP:0025032	Abnormality of digestive system physiology	221927	BRAT1	OMIM:614498
HP:0025032	Abnormality of digestive system physiology	10535	RNASEH2A	OMIM:610333
HP:0025032	Abnormality of digestive system physiology	54938	SARS2	OMIM:613845
HP:0025032	Abnormality of digestive system physiology	27183	VPS4A	OMIM:619273
HP:0025032	Abnormality of digestive system physiology	10046	MAMLD1	ORPHA:456328
HP:0025032	Abnormality of digestive system physiology	347734	SLC35B2	OMIM:620269
HP:0025032	Abnormality of digestive system physiology	1119	CHKA	OMIM:620023
HP:0025032	Abnormality of digestive system physiology	8496	PPFIBP1	OMIM:620024
HP:0025032	Abnormality of digestive system physiology	51218	GLRX5	ORPHA:401866
HP:0025032	Abnormality of digestive system physiology	1073	CFL2	ORPHA:171436
HP:0025032	Abnormality of digestive system physiology	9442	MED27	OMIM:619286
HP:0025032	Abnormality of digestive system physiology	1340	COX6B1	OMIM:619051
HP:0025032	Abnormality of digestive system physiology	51360	MBTPS2	ORPHA:2273
HP:0025032	Abnormality of digestive system physiology	100131801	PET100	OMIM:619055
HP:0025032	Abnormality of digestive system physiology	93986	FOXP2	ORPHA:209908
HP:0025032	Abnormality of digestive system physiology	4338	MOCS2	OMIM:252160
HP:0025032	Abnormality of digestive system physiology	51010	EXOSC3	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	51010	EXOSC3	OMIM:614678
HP:0025032	Abnormality of digestive system physiology	91137	SLC25A46	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	83475	DOHH	OMIM:620066
HP:0025032	Abnormality of digestive system physiology	10236	HNRNPR	OMIM:620073
HP:0025032	Abnormality of digestive system physiology	8905	AP1S2	ORPHA:85329
HP:0025032	Abnormality of digestive system physiology	7025	NR2F1	OMIM:615722
HP:0025032	Abnormality of digestive system physiology	84570	COL25A1	ORPHA:1143
HP:0025032	Abnormality of digestive system physiology	57222	ERGIC1	ORPHA:1143
HP:0025032	Abnormality of digestive system physiology	9775	EIF4A3	OMIM:268305
HP:0025032	Abnormality of digestive system physiology	57017	COQ9	OMIM:614654
HP:0025032	Abnormality of digestive system physiology	9512	PMPCB	OMIM:617954
HP:0025032	Abnormality of digestive system physiology	5718	PSMD12	ORPHA:529962
HP:0025032	Abnormality of digestive system physiology	5718	PSMD12	OMIM:617516
HP:0025032	Abnormality of digestive system physiology	2186	BPTF	ORPHA:529962
HP:0025032	Abnormality of digestive system physiology	54664	TMEM106B	OMIM:617964
HP:0025032	Abnormality of digestive system physiology	2475	MTOR	OMIM:616638
HP:0025032	Abnormality of digestive system physiology	2584	GALK1	ORPHA:79237
HP:0025032	Abnormality of digestive system physiology	112858	TP53RK	OMIM:617730
HP:0025032	Abnormality of digestive system physiology	11019	LIAS	OMIM:614462
HP:0025032	Abnormality of digestive system physiology	3747	KCNC2	OMIM:619913
HP:0025032	Abnormality of digestive system physiology	3704	ITPA	OMIM:616647
HP:0025032	Abnormality of digestive system physiology	26047	CNTNAP2	ORPHA:163681
HP:0025032	Abnormality of digestive system physiology	51124	IER3IP1	OMIM:614231
HP:0025032	Abnormality of digestive system physiology	54870	QRICH1	OMIM:617982
HP:0025032	Abnormality of digestive system physiology	4780	NFE2L2	OMIM:617744
HP:0025032	Abnormality of digestive system physiology	55704	CCDC88A	OMIM:617507
HP:0025032	Abnormality of digestive system physiology	529	ATP6V1E1	ORPHA:357074
HP:0025032	Abnormality of digestive system physiology	440	ASNS	OMIM:615574
HP:0025032	Abnormality of digestive system physiology	200205	IBA57	OMIM:615330
HP:0025032	Abnormality of digestive system physiology	9439	MED23	OMIM:614249
HP:0025032	Abnormality of digestive system physiology	18	ABAT	OMIM:613163
HP:0025032	Abnormality of digestive system physiology	4858	NOVA2	OMIM:618859
HP:0025032	Abnormality of digestive system physiology	58499	ZNF462	OMIM:618619
HP:0025032	Abnormality of digestive system physiology	9990	SLC12A6	OMIM:218000
HP:0025032	Abnormality of digestive system physiology	3476	IGBP1	OMIM:300472
HP:0025032	Abnormality of digestive system physiology	6095	RORA	OMIM:618060
HP:0025032	Abnormality of digestive system physiology	3008	H1-4	OMIM:617537
HP:0025032	Abnormality of digestive system physiology	26115	TANC2	OMIM:618906
HP:0025032	Abnormality of digestive system physiology	411	ARSB	OMIM:253200
HP:0025032	Abnormality of digestive system physiology	55209	SETD5	ORPHA:404440
HP:0025032	Abnormality of digestive system physiology	4953	ODC1	ORPHA:544488
HP:0025032	Abnormality of digestive system physiology	28960	DCPS	OMIM:616459
HP:0025032	Abnormality of digestive system physiology	57551	TAOK1	OMIM:619575
HP:0025032	Abnormality of digestive system physiology	55870	ASH1L	OMIM:617796
HP:0025032	Abnormality of digestive system physiology	9739	SETD1A	OMIM:619056
HP:0025032	Abnormality of digestive system physiology	84188	FAR1	OMIM:619338
HP:0025032	Abnormality of digestive system physiology	23317	DNAJC13	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	1981	EIF4G1	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	55737	VPS35	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	26058	GIGYF2	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	9969	MED13	OMIM:618009
HP:0025032	Abnormality of digestive system physiology	84823	LMNB2	OMIM:619180
HP:0025032	Abnormality of digestive system physiology	23036	ZNF292	OMIM:619188
HP:0025032	Abnormality of digestive system physiology	25	ABL1	OMIM:617602
HP:0025032	Abnormality of digestive system physiology	55186	SLC25A36	OMIM:620211
HP:0025032	Abnormality of digestive system physiology	9653	HS2ST1	OMIM:619194
HP:0025032	Abnormality of digestive system physiology	1267	CNP	OMIM:619071
HP:0025032	Abnormality of digestive system physiology	5518	PPP2R1A	OMIM:616362
HP:0025032	Abnormality of digestive system physiology	65109	UPF3B	OMIM:300676
HP:0025032	Abnormality of digestive system physiology	51633	OTUD6B	OMIM:617452
HP:0025032	Abnormality of digestive system physiology	51633	OTUD6B	ORPHA:505237
HP:0025032	Abnormality of digestive system physiology	5593	PRKG2	OMIM:619636
HP:0025032	Abnormality of digestive system physiology	54499	TMCO1	OMIM:213980
HP:0025032	Abnormality of digestive system physiology	8936	WASF1	OMIM:618707
HP:0025032	Abnormality of digestive system physiology	57459	GATAD2B	ORPHA:363686
HP:0025032	Abnormality of digestive system physiology	10660	LBX1	OMIM:619483
HP:0025032	Abnormality of digestive system physiology	5500	PPP1CB	OMIM:617506
HP:0025032	Abnormality of digestive system physiology	7841	MOGS	ORPHA:79330
HP:0025032	Abnormality of digestive system physiology	7030	TFE3	OMIM:301066
HP:0025032	Abnormality of digestive system physiology	64321	SOX17	OMIM:613674
HP:0025032	Abnormality of digestive system physiology	3110	MNX1	OMIM:176450
HP:0025032	Abnormality of digestive system physiology	92935	MARS2	OMIM:616430
HP:0025032	Abnormality of digestive system physiology	7319	UBE2A	ORPHA:163956
HP:0025032	Abnormality of digestive system physiology	5062	PAK2	OMIM:618458
HP:0025032	Abnormality of digestive system physiology	81603	TRIM8	OMIM:619428
HP:0025032	Abnormality of digestive system physiology	5696	PSMB8	OMIM:256040
HP:0025032	Abnormality of digestive system physiology	4976	OPA1	OMIM:210000
HP:0025032	Abnormality of digestive system physiology	25778	DSTYK	ORPHA:101003
HP:0025032	Abnormality of digestive system physiology	22854	NTNG1	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	7305	TYROBP	ORPHA:2770
HP:0025032	Abnormality of digestive system physiology	27178	IL37	OMIM:619398
HP:0025032	Abnormality of digestive system physiology	1355	COX15	OMIM:615119
HP:0025032	Abnormality of digestive system physiology	6868	ADAM17	OMIM:614328
HP:0025032	Abnormality of digestive system physiology	6868	ADAM17	ORPHA:294023
HP:0025032	Abnormality of digestive system physiology	64135	IFIH1	OMIM:615846
HP:0025032	Abnormality of digestive system physiology	1956	EGFR	ORPHA:294023
HP:0025032	Abnormality of digestive system physiology	2019	EN1	OMIM:619218
HP:0025032	Abnormality of digestive system physiology	25828	TXN2	ORPHA:478029
HP:0025032	Abnormality of digestive system physiology	126792	B3GALT6	OMIM:609465
HP:0025032	Abnormality of digestive system physiology	4125	MAN2B1	ORPHA:309282
HP:0025032	Abnormality of digestive system physiology	4125	MAN2B1	ORPHA:309288
HP:0025032	Abnormality of digestive system physiology	65082	VPS33A	ORPHA:505248
HP:0025032	Abnormality of digestive system physiology	10379	IRF9	OMIM:618648
HP:0025032	Abnormality of digestive system physiology	55768	NGLY1	OMIM:615273
HP:0025032	Abnormality of digestive system physiology	55768	NGLY1	ORPHA:404454
HP:0025032	Abnormality of digestive system physiology	3798	KIF5A	OMIM:617235
HP:0025032	Abnormality of digestive system physiology	5376	PMP22	ORPHA:98916
HP:0025032	Abnormality of digestive system physiology	10755	GIPC1	ORPHA:98897
HP:0025032	Abnormality of digestive system physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0025032	Abnormality of digestive system physiology	3716	JAK1	OMIM:618999
HP:0025032	Abnormality of digestive system physiology	4860	PNP	ORPHA:760
HP:0025032	Abnormality of digestive system physiology	57192	MCOLN1	OMIM:252650
HP:0025032	Abnormality of digestive system physiology	8547	FCN3	OMIM:613860
HP:0025032	Abnormality of digestive system physiology	5700	PSMC1	OMIM:620071
HP:0025032	Abnormality of digestive system physiology	10043	TOM1	OMIM:619510
HP:0025032	Abnormality of digestive system physiology	9578	CDC42BPB	OMIM:619841
HP:0025032	Abnormality of digestive system physiology	81570	CLPB	OMIM:616271
HP:0025032	Abnormality of digestive system physiology	9851	KIAA0753	OMIM:619479
HP:0025032	Abnormality of digestive system physiology	8789	FBP2	OMIM:619864
HP:0025032	Abnormality of digestive system physiology	8260	NAA10	OMIM:300855
HP:0025032	Abnormality of digestive system physiology	8565	YARS1	OMIM:619418
HP:0025032	Abnormality of digestive system physiology	1841	DTYMK	OMIM:619847
HP:0025032	Abnormality of digestive system physiology	56479	KCNQ5	OMIM:617601
HP:0025032	Abnormality of digestive system physiology	2058	EPRS1	OMIM:617951
HP:0025032	Abnormality of digestive system physiology	2799	GNS	OMIM:252940
HP:0025032	Abnormality of digestive system physiology	55037	PTCD3	OMIM:619057
HP:0025032	Abnormality of digestive system physiology	8818	DPM2	ORPHA:329178
HP:0025032	Abnormality of digestive system physiology	9526	MPDU1	ORPHA:79323
HP:0025032	Abnormality of digestive system physiology	55610	VPS50	OMIM:619685
HP:0025032	Abnormality of digestive system physiology	57520	HECW2	OMIM:617268
HP:0025032	Abnormality of digestive system physiology	4632	MYL1	OMIM:618414
HP:0025032	Abnormality of digestive system physiology	10747	MASP2	OMIM:613791
HP:0025032	Abnormality of digestive system physiology	29775	CARD10	OMIM:619632
HP:0025032	Abnormality of digestive system physiology	55765	INAVA	OMIM:618077
HP:0025032	Abnormality of digestive system physiology	9051	PSTPIP1	ORPHA:69126
HP:0025032	Abnormality of digestive system physiology	79415	CYBC1	OMIM:618935
HP:0025032	Abnormality of digestive system physiology	96459	FNIP1	OMIM:619705
HP:0025032	Abnormality of digestive system physiology	6135	RPL11	OMIM:612562
HP:0025032	Abnormality of digestive system physiology	25802	LMOD1	ORPHA:2241
HP:0025032	Abnormality of digestive system physiology	72	ACTG2	ORPHA:2241
HP:0025032	Abnormality of digestive system physiology	4638	MYLK	ORPHA:2241
HP:0025032	Abnormality of digestive system physiology	59	ACTA2	OMIM:613834
HP:0025032	Abnormality of digestive system physiology	10398	MYL9	OMIM:619365
HP:0025032	Abnormality of digestive system physiology	6515	SLC2A3	ORPHA:399
HP:0025032	Abnormality of digestive system physiology	5393	EXOSC9	OMIM:618065
HP:0025032	Abnormality of digestive system physiology	112	ADCY6	OMIM:616287
HP:0025032	Abnormality of digestive system physiology	222663	SCUBE3	OMIM:619184
HP:0025032	Abnormality of digestive system physiology	4088	SMAD3	OMIM:613795
HP:0025032	Abnormality of digestive system physiology	7046	TGFBR1	OMIM:609192
HP:0025032	Abnormality of digestive system physiology	81704	DOCK8	OMIM:243700
HP:0025032	Abnormality of digestive system physiology	1828	DSG1	OMIM:615508
HP:0025032	Abnormality of digestive system physiology	7042	TGFB2	OMIM:614816
HP:0025032	Abnormality of digestive system physiology	7043	TGFB3	OMIM:615582
HP:0025033	Abnormality of digestive system morphology	84172	POLR1B	ORPHA:861
HP:0025033	Abnormality of digestive system morphology	9533	POLR1C	ORPHA:861
HP:0025033	Abnormality of digestive system morphology	51082	POLR1D	ORPHA:861
HP:0025033	Abnormality of digestive system morphology	6949	TCOF1	ORPHA:861
HP:0025033	Abnormality of digestive system morphology	1642	DDB1	OMIM:619426
HP:0025033	Abnormality of digestive system morphology	3718	JAK3	ORPHA:35078
HP:0025033	Abnormality of digestive system morphology	7450	VWF	OMIM:193400
HP:0025033	Abnormality of digestive system morphology	10128	LRPPRC	OMIM:220111
HP:0025033	Abnormality of digestive system morphology	9791	PTDSS1	OMIM:151050
HP:0025033	Abnormality of digestive system morphology	5447	POR	OMIM:201750
HP:0025033	Abnormality of digestive system morphology	5447	POR	ORPHA:95699
HP:0025033	Abnormality of digestive system morphology	23512	SUZ12	OMIM:618786
HP:0025033	Abnormality of digestive system morphology	29957	SLC25A24	OMIM:612289
HP:0025033	Abnormality of digestive system morphology	22800	RRAS2	OMIM:618624
HP:0025033	Abnormality of digestive system morphology	1857	DVL3	OMIM:616894
HP:0025033	Abnormality of digestive system morphology	8942	KYNU	OMIM:617661
HP:0025033	Abnormality of digestive system morphology	1108	CHD4	OMIM:617159
HP:0025033	Abnormality of digestive system morphology	157570	ESCO2	ORPHA:2319
HP:0025033	Abnormality of digestive system morphology	157570	ESCO2	OMIM:216100
HP:0025033	Abnormality of digestive system morphology	1656	DDX6	OMIM:618653
HP:0025033	Abnormality of digestive system morphology	1822	ATN1	OMIM:618494
HP:0025033	Abnormality of digestive system morphology	26005	C2CD3	OMIM:615948
HP:0025033	Abnormality of digestive system morphology	23476	BRD4	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	9126	SMC3	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	8243	SMC1A	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	25836	NIPBL	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	25836	NIPBL	OMIM:122470
HP:0025033	Abnormality of digestive system morphology	55869	HDAC8	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	5885	RAD21	ORPHA:199
HP:0025033	Abnormality of digestive system morphology	375	ARF1	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	4131	MAP1B	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	23327	NEDD4L	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	160418	TMTC3	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	10564	ARFGEF2	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	55780	ERMARD	ORPHA:98892
HP:0025033	Abnormality of digestive system morphology	1859	DYRK1A	ORPHA:268261
HP:0025033	Abnormality of digestive system morphology	91754	NEK9	OMIM:614262
HP:0025033	Abnormality of digestive system morphology	8425	LTBP4	OMIM:613177
HP:0025033	Abnormality of digestive system morphology	6885	MAP3K7	OMIM:617137
HP:0025033	Abnormality of digestive system morphology	4744	NEFH	OMIM:616924
HP:0025033	Abnormality of digestive system morphology	9759	HDAC4	ORPHA:1001
HP:0025033	Abnormality of digestive system morphology	5590	PRKCZ	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	2563	GABRD	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	23013	SPEN	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	8510	MMP23B	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	7798	LUZP1	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	6497	SKI	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	10630	PDPN	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	3339	HSPG2	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	10277	UBE4B	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	8514	KCNAB2	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	473	RERE	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	63976	PRDM16	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	54897	CASZ1	ORPHA:1606
HP:0025033	Abnormality of digestive system morphology	81031	SLC2A10	ORPHA:3342
HP:0025033	Abnormality of digestive system morphology	4534	MTM1	OMIM:310400
HP:0025033	Abnormality of digestive system morphology	6928	HNF1B	ORPHA:93111
HP:0025033	Abnormality of digestive system morphology	9839	ZEB2	OMIM:235730
HP:0025033	Abnormality of digestive system morphology	9839	ZEB2	ORPHA:261537
HP:0025033	Abnormality of digestive system morphology	9839	ZEB2	ORPHA:261552
HP:0025033	Abnormality of digestive system morphology	274	BIN1	ORPHA:169189
HP:0025033	Abnormality of digestive system morphology	64419	MTMR14	ORPHA:169189
HP:0025033	Abnormality of digestive system morphology	4618	MYF6	ORPHA:169189
HP:0025033	Abnormality of digestive system morphology	1785	DNM2	ORPHA:169189
HP:0025033	Abnormality of digestive system morphology	6261	RYR1	ORPHA:169189
HP:0025033	Abnormality of digestive system morphology	80781	COL18A1	OMIM:267750
HP:0025033	Abnormality of digestive system morphology	80781	COL18A1	ORPHA:1571
HP:0025033	Abnormality of digestive system morphology	388015	RTL1	ORPHA:96184
HP:0025033	Abnormality of digestive system morphology	8788	DLK1	ORPHA:96184
HP:0025033	Abnormality of digestive system morphology	55384	MEG3	ORPHA:96184
HP:0025033	Abnormality of digestive system morphology	5009	OTC	ORPHA:664
HP:0025033	Abnormality of digestive system morphology	374879	ZNF699	OMIM:619488
HP:0025033	Abnormality of digestive system morphology	613	BCR	ORPHA:261330
HP:0025033	Abnormality of digestive system morphology	1399	CRKL	ORPHA:261330
HP:0025033	Abnormality of digestive system morphology	5594	MAPK1	ORPHA:261330
HP:0025033	Abnormality of digestive system morphology	1723	DHODH	OMIM:263750
HP:0025033	Abnormality of digestive system morphology	5831	PYCR1	OMIM:614438
HP:0025033	Abnormality of digestive system morphology	1717	DHCR7	ORPHA:818
HP:0025033	Abnormality of digestive system morphology	1717	DHCR7	OMIM:270400
HP:0025033	Abnormality of digestive system morphology	4868	NPHS1	OMIM:256300
HP:0025033	Abnormality of digestive system morphology	63895	PIEZO2	OMIM:248700
HP:0025033	Abnormality of digestive system morphology	63895	PIEZO2	ORPHA:2461
HP:0025033	Abnormality of digestive system morphology	4784	NFIX	OMIM:602535
HP:0025033	Abnormality of digestive system morphology	5528	PPP2R5D	ORPHA:457279
HP:0025033	Abnormality of digestive system morphology	5528	PPP2R5D	OMIM:616355
HP:0025033	Abnormality of digestive system morphology	4052	LTBP1	ORPHA:90349
HP:0025033	Abnormality of digestive system morphology	30008	EFEMP2	ORPHA:90349
HP:0025033	Abnormality of digestive system morphology	10516	FBLN5	ORPHA:90349
HP:0025033	Abnormality of digestive system morphology	284058	KANSL1	OMIM:610443
HP:0025033	Abnormality of digestive system morphology	9896	FIG4	OMIM:216340
HP:0025033	Abnormality of digestive system morphology	9896	FIG4	ORPHA:3472
HP:0025033	Abnormality of digestive system morphology	7020	TFAP2A	OMIM:113620
HP:0025033	Abnormality of digestive system morphology	3914	LAMB3	OMIM:226700
HP:0025033	Abnormality of digestive system morphology	3909	LAMA3	OMIM:226700
HP:0025033	Abnormality of digestive system morphology	3918	LAMC2	OMIM:226700
HP:0025033	Abnormality of digestive system morphology	55697	VAC14	ORPHA:3472
HP:0025033	Abnormality of digestive system morphology	404672	GTF2H5	OMIM:616395
HP:0025033	Abnormality of digestive system morphology	25970	SH2B1	ORPHA:261197
HP:0025033	Abnormality of digestive system morphology	127833	SYT2	OMIM:619461
HP:0025033	Abnormality of digestive system morphology	529	ATP6V1E1	OMIM:617402
HP:0025033	Abnormality of digestive system morphology	5062	PAK2	OMIM:618458
HP:0025033	Abnormality of digestive system morphology	5062	PAK2	ORPHA:1571
HP:0025033	Abnormality of digestive system morphology	284119	CAVIN1	OMIM:613327
HP:0025033	Abnormality of digestive system morphology	3265	HRAS	OMIM:218040
HP:0025033	Abnormality of digestive system morphology	871	SERPINH1	OMIM:613848
HP:0025033	Abnormality of digestive system morphology	2313	FLI1	ORPHA:2308
HP:0025033	Abnormality of digestive system morphology	2737	GLI3	ORPHA:672
HP:0025033	Abnormality of digestive system morphology	2737	GLI3	OMIM:146510
HP:0025033	Abnormality of digestive system morphology	9361	LONP1	OMIM:600373
HP:0025033	Abnormality of digestive system morphology	2294	FOXF1	OMIM:265380
HP:0025033	Abnormality of digestive system morphology	2294	FOXF1	ORPHA:210122
HP:0025033	Abnormality of digestive system morphology	117581	TWIST2	OMIM:227260
HP:0025033	Abnormality of digestive system morphology	117581	TWIST2	ORPHA:1807
HP:0025033	Abnormality of digestive system morphology	8195	MKKS	OMIM:236700
HP:0025033	Abnormality of digestive system morphology	8195	MKKS	ORPHA:2473
HP:0025033	Abnormality of digestive system morphology	145173	B3GLCT	ORPHA:709
HP:0025033	Abnormality of digestive system morphology	6650	CAPN15	OMIM:619318
HP:0025033	Abnormality of digestive system morphology	1131	CHRM3	ORPHA:2970
HP:0025033	Abnormality of digestive system morphology	1131	CHRM3	OMIM:100100
HP:0025033	Abnormality of digestive system morphology	7473	WNT3	ORPHA:3301
HP:0025033	Abnormality of digestive system morphology	7473	WNT3	OMIM:273395
HP:0025033	Abnormality of digestive system morphology	340419	RSPO2	ORPHA:3301
HP:0025033	Abnormality of digestive system morphology	81839	VANGL1	ORPHA:3027
HP:0025033	Abnormality of digestive system morphology	80199	FUZ	ORPHA:3027
HP:0025033	Abnormality of digestive system morphology	10084	PQBP1	ORPHA:93950
HP:0025033	Abnormality of digestive system morphology	10084	PQBP1	OMIM:309500
HP:0025033	Abnormality of digestive system morphology	197131	UBR1	OMIM:243800
HP:0025033	Abnormality of digestive system morphology	197131	UBR1	ORPHA:2315
HP:0025033	Abnormality of digestive system morphology	267010	RNU12	OMIM:603116
HP:0025033	Abnormality of digestive system morphology	55112	DYNC2I1	ORPHA:93271
HP:0025033	Abnormality of digestive system morphology	57560	IFT80	ORPHA:93271
HP:0025033	Abnormality of digestive system morphology	57539	WDR35	ORPHA:93271
HP:0025033	Abnormality of digestive system morphology	79659	DYNC2H1	ORPHA:93271
HP:0025033	Abnormality of digestive system morphology	79659	DYNC2H1	OMIM:613091
HP:0025033	Abnormality of digestive system morphology	89891	DYNC2I2	ORPHA:93271
HP:0025033	Abnormality of digestive system morphology	4281	MID1	OMIM:300000
HP:0025033	Abnormality of digestive system morphology	4281	MID1	ORPHA:2745
HP:0025033	Abnormality of digestive system morphology	374654	KIF7	OMIM:200990
HP:0025033	Abnormality of digestive system morphology	2623	GATA1	OMIM:190685
HP:0025033	Abnormality of digestive system morphology	3313	HSPA9	OMIM:616854
HP:0025033	Abnormality of digestive system morphology	2137	EXTL3	OMIM:617425
HP:0025033	Abnormality of digestive system morphology	999	CDH1	OMIM:119580
HP:0025033	Abnormality of digestive system morphology	999	CDH1	ORPHA:1997
HP:0025033	Abnormality of digestive system morphology	29954	POMT2	OMIM:236670
HP:0025033	Abnormality of digestive system morphology	9215	LARGE1	OMIM:236670
HP:0025033	Abnormality of digestive system morphology	79147	FKRP	OMIM:236670
HP:0025033	Abnormality of digestive system morphology	10585	POMT1	OMIM:236670
HP:0025033	Abnormality of digestive system morphology	2218	FKTN	OMIM:236670
HP:0025033	Abnormality of digestive system morphology	2187	FANCB	ORPHA:3412
HP:0025033	Abnormality of digestive system morphology	2187	FANCB	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2187	FANCB	OMIM:314390
HP:0025033	Abnormality of digestive system morphology	1500	CTNND1	ORPHA:1997
HP:0025033	Abnormality of digestive system morphology	7547	ZIC3	OMIM:306955
HP:0025033	Abnormality of digestive system morphology	7547	ZIC3	OMIM:314390
HP:0025033	Abnormality of digestive system morphology	4072	EPCAM	ORPHA:92050
HP:0025033	Abnormality of digestive system morphology	105371045	PERCC1	ORPHA:92050
HP:0025033	Abnormality of digestive system morphology	2263	FGFR2	ORPHA:93260
HP:0025033	Abnormality of digestive system morphology	2263	FGFR2	ORPHA:93259
HP:0025033	Abnormality of digestive system morphology	9401	RECQL4	ORPHA:1225
HP:0025033	Abnormality of digestive system morphology	9401	RECQL4	OMIM:218600
HP:0025033	Abnormality of digestive system morphology	672	BRCA1	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	10459	MAD2L2	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	7516	XRCC2	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	29089	UBE2T	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	675	BRCA2	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	675	BRCA2	OMIM:605724
HP:0025033	Abnormality of digestive system morphology	55120	FANCL	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	55120	FANCL	OMIM:614083
HP:0025033	Abnormality of digestive system morphology	2177	FANCD2	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2175	FANCA	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2176	FANCC	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2178	FANCE	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2188	FANCF	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2189	FANCG	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	5888	RAD51	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	5888	RAD51	OMIM:617244
HP:0025033	Abnormality of digestive system morphology	55159	RFWD3	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	83990	BRIP1	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	57697	FANCM	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	79728	PALB2	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	84464	SLX4	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	2072	ERCC4	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	55215	FANCI	ORPHA:84
HP:0025033	Abnormality of digestive system morphology	1312	COMT	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	221037	JMJD1C	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	2812	GP1BB	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	6239	RREB1	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	6899	TBX1	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	7290	HIRA	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	9632	SEC24C	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	7353	UFD1	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	421	ARVCF	ORPHA:567
HP:0025033	Abnormality of digestive system morphology	25942	SIN3A	ORPHA:94065
HP:0025033	Abnormality of digestive system morphology	25	ABL1	OMIM:617602
HP:0025033	Abnormality of digestive system morphology	23065	EMC1	OMIM:616875
HP:0025033	Abnormality of digestive system morphology	23065	EMC1	ORPHA:480898
HP:0025033	Abnormality of digestive system morphology	55012	PPP2R3C	OMIM:618419
HP:0025033	Abnormality of digestive system morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	4790	NFKB1	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	4791	NFKB2	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	1380	CR2	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	8742	TNFSF12	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	5580	PRKCD	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	930	CD19	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	29851	ICOS	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	931	MS4A1	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	975	CD81	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	359948	IRF2BP2	ORPHA:1572
HP:0025033	Abnormality of digestive system morphology	10046	MAMLD1	ORPHA:95706
HP:0025033	Abnormality of digestive system morphology	367	AR	ORPHA:95706
HP:0025033	Abnormality of digestive system morphology	6862	TBXT	OMIM:615709
HP:0025033	Abnormality of digestive system morphology	4613	MYCN	ORPHA:391641
HP:0025033	Abnormality of digestive system morphology	8260	NAA10	OMIM:309800
HP:0025033	Abnormality of digestive system morphology	54880	BCOR	OMIM:309800
HP:0025033	Abnormality of digestive system morphology	1349	COX7B	OMIM:309801
HP:0025033	Abnormality of digestive system morphology	3052	HCCS	OMIM:309801
HP:0025033	Abnormality of digestive system morphology	54539	NDUFB11	OMIM:309801
HP:0025033	Abnormality of digestive system morphology	55773	TBC1D23	OMIM:617695
HP:0025033	Abnormality of digestive system morphology	92002	CCNQ	OMIM:300707
HP:0025033	Abnormality of digestive system morphology	92002	CCNQ	ORPHA:140952
HP:0025033	Abnormality of digestive system morphology	8239	USP9X	ORPHA:480880
HP:0025033	Abnormality of digestive system morphology	8239	USP9X	OMIM:300968
HP:0025033	Abnormality of digestive system morphology	10653	SPINT2	OMIM:270420
HP:0025033	Abnormality of digestive system morphology	79228	THOC6	ORPHA:363444
HP:0025033	Abnormality of digestive system morphology	79813	EHMT1	ORPHA:261652
HP:0025033	Abnormality of digestive system morphology	58508	KMT2C	ORPHA:261652
HP:0025033	Abnormality of digestive system morphology	51339	DACT1	OMIM:617466
HP:0025033	Abnormality of digestive system morphology	51339	DACT1	ORPHA:857
HP:0025033	Abnormality of digestive system morphology	51339	DACT1	ORPHA:63260
HP:0025033	Abnormality of digestive system morphology	23112	TNRC6B	OMIM:619243
HP:0025033	Abnormality of digestive system morphology	7291	TWIST1	OMIM:617746
HP:0025033	Abnormality of digestive system morphology	9897	WASHC5	OMIM:220210
HP:0025033	Abnormality of digestive system morphology	9897	WASHC5	ORPHA:7
HP:0025033	Abnormality of digestive system morphology	153241	CEP120	OMIM:616300
HP:0025033	Abnormality of digestive system morphology	7476	WNT7A	ORPHA:2879
HP:0025033	Abnormality of digestive system morphology	1807	DPYS	OMIM:222748
HP:0025033	Abnormality of digestive system morphology	3239	HOXD13	ORPHA:887
HP:0025033	Abnormality of digestive system morphology	28952	CCDC22	ORPHA:7
HP:0025033	Abnormality of digestive system morphology	51733	UPB1	OMIM:613161
HP:0025033	Abnormality of digestive system morphology	54903	MKS1	OMIM:249000
HP:0025033	Abnormality of digestive system morphology	9573	GDF3	ORPHA:2345
HP:0025033	Abnormality of digestive system morphology	392255	GDF6	ORPHA:2345
HP:0025033	Abnormality of digestive system morphology	4222	MEOX1	ORPHA:2345
HP:0025033	Abnormality of digestive system morphology	27152	INTU	OMIM:617925
HP:0025033	Abnormality of digestive system morphology	2719	GPC3	OMIM:312870
HP:0025033	Abnormality of digestive system morphology	2239	GPC4	OMIM:312870
HP:0025033	Abnormality of digestive system morphology	171023	ASXL1	ORPHA:98850
HP:0025033	Abnormality of digestive system morphology	54790	TET2	ORPHA:98850
HP:0025033	Abnormality of digestive system morphology	867	CBL	ORPHA:98850
HP:0025033	Abnormality of digestive system morphology	861	RUNX1	ORPHA:98850
HP:0025033	Abnormality of digestive system morphology	6427	SRSF2	ORPHA:98850
HP:0025033	Abnormality of digestive system morphology	118429	ANTXR2	ORPHA:2176
HP:0025033	Abnormality of digestive system morphology	7518	XRCC4	ORPHA:99812
HP:0025033	Abnormality of digestive system morphology	80270	HSD3B7	ORPHA:79301
HP:0025033	Abnormality of digestive system morphology	2316	FLNA	ORPHA:99811
HP:0025033	Abnormality of digestive system morphology	4292	MLH1	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	5395	PMS2	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	27030	MLH3	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	22909	FAN1	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	7048	TGFBR2	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	3845	KRAS	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	5290	PIK3CA	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	2956	MSH6	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	5378	PMS1	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	4436	MSH2	ORPHA:144
HP:0025033	Abnormality of digestive system morphology	55630	SLC39A4	ORPHA:37
HP:0025033	Abnormality of digestive system morphology	6514	SLC2A2	OMIM:227810
HP:0025033	Abnormality of digestive system morphology	50674	NEUROG3	ORPHA:83620
HP:0025033	Abnormality of digestive system morphology	64218	SEMA4A	ORPHA:440437
HP:0025033	Abnormality of digestive system morphology	657	BMPR1A	ORPHA:440437
HP:0025033	Abnormality of digestive system morphology	6224	RPS20	ORPHA:440437
HP:0025033	Abnormality of digestive system morphology	10525	HYOU1	OMIM:233600
HP:0025033	Abnormality of digestive system morphology	4952	OCRL	ORPHA:534
HP:0025033	Abnormality of digestive system morphology	1536	CYBB	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	4688	NCF2	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	1535	CYBA	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	4689	NCF4	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	653361	NCF1	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	653361	NCF1	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	79415	CYBC1	ORPHA:379
HP:0025033	Abnormality of digestive system morphology	170302	ARX	ORPHA:452
HP:0025033	Abnormality of digestive system morphology	9663	LPIN2	ORPHA:77297
HP:0025033	Abnormality of digestive system morphology	2717	GLA	ORPHA:324
HP:0025033	Abnormality of digestive system morphology	3248	HPGD	ORPHA:2796
HP:0025033	Abnormality of digestive system morphology	6578	SLCO2A1	ORPHA:2796
HP:0025033	Abnormality of digestive system morphology	538	ATP7A	ORPHA:565
HP:0025033	Abnormality of digestive system morphology	2068	ERCC2	OMIM:601675
HP:0025033	Abnormality of digestive system morphology	3070	HELLS	ORPHA:2268
HP:0025033	Abnormality of digestive system morphology	1789	DNMT3B	ORPHA:2268
HP:0025033	Abnormality of digestive system morphology	1789	DNMT3B	OMIM:242860
HP:0025033	Abnormality of digestive system morphology	83879	CDCA7	ORPHA:2268
HP:0025033	Abnormality of digestive system morphology	9841	ZBTB24	ORPHA:2268
HP:0025033	Abnormality of digestive system morphology	113235	SLC46A1	OMIM:229050
HP:0025033	Abnormality of digestive system morphology	175	AGA	ORPHA:93
HP:0025033	Abnormality of digestive system morphology	1499	CTNNB1	ORPHA:873
HP:0025033	Abnormality of digestive system morphology	324	APC	ORPHA:873
HP:0025033	Abnormality of digestive system morphology	30011	SH3KBP1	OMIM:300310
HP:0025033	Abnormality of digestive system morphology	4261	CIITA	OMIM:209920
HP:0025033	Abnormality of digestive system morphology	5994	RFXAP	OMIM:209920
HP:0025033	Abnormality of digestive system morphology	5993	RFX5	OMIM:209920
HP:0025033	Abnormality of digestive system morphology	8625	RFXANK	OMIM:209920
HP:0025033	Abnormality of digestive system morphology	222546	RFX6	OMIM:615710
HP:0025033	Abnormality of digestive system morphology	9508	ADAMTS3	ORPHA:2136
HP:0025033	Abnormality of digestive system morphology	147372	CCBE1	ORPHA:2136
HP:0025033	Abnormality of digestive system morphology	6804	STX1A	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	6804	STX1A	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	7461	CLIP2	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	84277	DNAJC30	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	8468	FKBP6	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	5982	RFC2	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	2969	GTF2I	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	3984	LIMK1	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	9569	GTF2IRD1	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	155382	VPS37D	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	155368	METTL27	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	114049	BUD23	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	7458	EIF4H	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	84163	GTF2IRD2	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	9275	BCL7B	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	26608	TBL2	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	135886	TMEM270	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	51085	MLXIPL	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	9031	BAZ1B	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	2006	ELN	ORPHA:904
HP:0025033	Abnormality of digestive system morphology	1890	TYMP	OMIM:603041
HP:0025033	Abnormality of digestive system morphology	5428	POLG	OMIM:603041
HP:0025033	Abnormality of digestive system morphology	5428	POLG	OMIM:613662
HP:0025033	Abnormality of digestive system morphology	493856	CISD2	ORPHA:3463
HP:0025033	Abnormality of digestive system morphology	7466	WFS1	ORPHA:3463
HP:0025033	Abnormality of digestive system morphology	4567	MT-TL1	ORPHA:225
HP:0025033	Abnormality of digestive system morphology	4556	MT-TE	ORPHA:225
HP:0025033	Abnormality of digestive system morphology	4566	MT-TK	ORPHA:225
HP:0025033	Abnormality of digestive system morphology	6523	SLC5A1	OMIM:606824
HP:0025033	Abnormality of digestive system morphology	4210	MEFV	ORPHA:342
HP:0025033	Abnormality of digestive system morphology	4210	MEFV	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	2947	GSTM3	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	7040	TGFB1	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	2729	GCLC	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	1084	CEACAM3	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	6556	SLC11A1	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	51164	DCTN4	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	3783	KCNN4	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	4282	MIF	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	1909	EDNRA	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	6550	SLC9A3	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	3162	HMOX1	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	115019	SLC26A9	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	3077	HFE	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	11254	SLC6A14	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	5265	SERPINA1	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	1080	CFTR	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	22802	CLCA4	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	4680	CEACAM6	ORPHA:586
HP:0025033	Abnormality of digestive system morphology	5244	ABCB4	OMIM:602347
HP:0025033	Abnormality of digestive system morphology	8567	MADD	OMIM:619004
HP:0025033	Abnormality of digestive system morphology	6288	SAA1	ORPHA:85445
HP:0025033	Abnormality of digestive system morphology	57570	TRMT5	OMIM:616539
HP:0025033	Abnormality of digestive system morphology	3662	IRF4	ORPHA:3452
HP:0025033	Abnormality of digestive system morphology	695	BTK	ORPHA:47
HP:0025033	Abnormality of digestive system morphology	811	CALR	ORPHA:131
HP:0025033	Abnormality of digestive system morphology	3717	JAK2	ORPHA:131
HP:0025033	Abnormality of digestive system morphology	2153	F5	ORPHA:131
HP:0025033	Abnormality of digestive system morphology	5122	PCSK1	OMIM:600955
HP:0025033	Abnormality of digestive system morphology	326	AIRE	OMIM:240300
HP:0025033	Abnormality of digestive system morphology	1758	DMP1	ORPHA:289176
HP:0025033	Abnormality of digestive system morphology	5167	ENPP1	ORPHA:289176
HP:0025033	Abnormality of digestive system morphology	340024	SLC6A19	ORPHA:2116
HP:0025033	Abnormality of digestive system morphology	57393	CLTRN	ORPHA:2116
HP:0025033	Abnormality of digestive system morphology	50943	FOXP3	ORPHA:37042
HP:0025033	Abnormality of digestive system morphology	11181	TREH	ORPHA:103909
HP:0025033	Abnormality of digestive system morphology	6476	SI	OMIM:222900
HP:0025033	Abnormality of digestive system morphology	4615	MYD88	ORPHA:33226
HP:0025033	Abnormality of digestive system morphology	1604	CD55	OMIM:226300
HP:0025033	Abnormality of digestive system morphology	80169	CTC1	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	26277	TINF2	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	55651	NHP2	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	79650	USB1	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	55135	WRAP53	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	51750	RTEL1	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	4869	NPM1	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	7012	TERC	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	55505	NOP10	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	5073	PARN	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	7015	TERT	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	1736	DKC1	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	7298	TYMS	ORPHA:1775
HP:0025033	Abnormality of digestive system morphology	55315	SLC29A3	ORPHA:168569
HP:0025033	Abnormality of digestive system morphology	1235	CCR6	ORPHA:220393
HP:0025033	Abnormality of digestive system morphology	1490	CCN2	ORPHA:220393
HP:0025033	Abnormality of digestive system morphology	3663	IRF5	ORPHA:220393
HP:0025033	Abnormality of digestive system morphology	857	CAV1	ORPHA:220393
HP:0025033	Abnormality of digestive system morphology	3123	HLA-DRB1	ORPHA:220393
HP:0025033	Abnormality of digestive system morphology	1828	DSG1	OMIM:615508
HP:0025033	Abnormality of digestive system morphology	55670	PEX26	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5824	PEX19	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5828	PEX2	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	8504	PEX3	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	8799	PEX11B	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	9409	PEX16	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5190	PEX6	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5830	PEX5	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5189	PEX1	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5193	PEX12	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5194	PEX13	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5195	PEX14	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	5192	PEX10	ORPHA:912
HP:0025033	Abnormality of digestive system morphology	204	AK2	ORPHA:33355
HP:0025033	Abnormality of digestive system morphology	6929	TCF3	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	973	CD79A	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	974	CD79B	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	3543	IGLL1	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	3507	IGHM	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	29760	BLNK	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	5295	PIK3R1	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	56262	LRRC8A	ORPHA:33110
HP:0025033	Abnormality of digestive system morphology	149233	IL23R	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	6775	STAT4	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	3586	IL10	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	1230	CCR1	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	355	FAS	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	3592	IL12A	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	3106	HLA-B	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	7099	TLR4	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	3459	IFNGR1	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	720	C4A	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	337867	UBAC2	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	51752	ERAP1	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	8302	KLRC4	ORPHA:117
HP:0025033	Abnormality of digestive system morphology	11005	SPINK5	ORPHA:634
HP:0025033	Abnormality of digestive system morphology	139285	AMER1	OMIM:300373
HP:0025033	Abnormality of digestive system morphology	3981	LIG4	ORPHA:235
HP:0025033	Abnormality of digestive system morphology	54888	NSUN2	ORPHA:235
HP:0025033	Abnormality of digestive system morphology	23556	PIGN	OMIM:614080
HP:0025033	Abnormality of digestive system morphology	23556	PIGN	ORPHA:280633
HP:0025033	Abnormality of digestive system morphology	80144	FRAS1	ORPHA:2052
HP:0025033	Abnormality of digestive system morphology	23426	GRIP1	ORPHA:2052
HP:0025033	Abnormality of digestive system morphology	6628	SNRPB	OMIM:117650
HP:0025033	Abnormality of digestive system morphology	6608	SMO	OMIM:601707
HP:0025033	Abnormality of digestive system morphology	4683	NBN	OMIM:251260
HP:0025033	Abnormality of digestive system morphology	4683	NBN	ORPHA:647
HP:0025033	Abnormality of digestive system morphology	23522	KAT6B	OMIM:606170
HP:0025033	Abnormality of digestive system morphology	6023	RMRP	OMIM:250250
HP:0025033	Abnormality of digestive system morphology	775	CACNA1C	OMIM:620029
HP:0025033	Abnormality of digestive system morphology	27315	PGAP2	OMIM:614207
HP:0025033	Abnormality of digestive system morphology	158326	FREM1	ORPHA:2717
HP:0025033	Abnormality of digestive system morphology	158326	FREM1	ORPHA:217266
HP:0025033	Abnormality of digestive system morphology	158326	FREM1	OMIM:248450
HP:0025033	Abnormality of digestive system morphology	84720	PIGO	OMIM:614749
HP:0025033	Abnormality of digestive system morphology	5308	PITX2	OMIM:180500
HP:0025033	Abnormality of digestive system morphology	5308	PITX2	ORPHA:782
HP:0025033	Abnormality of digestive system morphology	3110	MNX1	OMIM:176450
HP:0025033	Abnormality of digestive system morphology	57167	SALL4	OMIM:607323
HP:0025033	Abnormality of digestive system morphology	8626	TP63	OMIM:604292
HP:0025033	Abnormality of digestive system morphology	1009	CDH11	OMIM:211380
HP:0025033	Abnormality of digestive system morphology	2296	FOXC1	ORPHA:782
HP:0025033	Abnormality of digestive system morphology	6299	SALL1	OMIM:107480
HP:0025033	Abnormality of digestive system morphology	6926	TBX3	OMIM:181450
HP:0025033	Abnormality of digestive system morphology	8318	CDC45	OMIM:617063
HP:0025033	Abnormality of digestive system morphology	54101	RIPK4	OMIM:263650
HP:0025033	Abnormality of digestive system morphology	84667	HES7	OMIM:613686
HP:0025033	Abnormality of digestive system morphology	55612	FERMT1	OMIM:173650
HP:0025033	Abnormality of digestive system morphology	55636	CHD7	OMIM:214800
HP:0025033	Abnormality of digestive system morphology	79633	FAT4	ORPHA:314679
HP:0025033	Abnormality of digestive system morphology	8642	DCHS1	ORPHA:314679
HP:0025033	Abnormality of digestive system morphology	9968	MED12	OMIM:305450
HP:0025033	Abnormality of digestive system morphology	8085	KMT2D	OMIM:147920
HP:0025033	Abnormality of digestive system morphology	7403	KDM6A	OMIM:147920
HP:0025033	Abnormality of digestive system morphology	4312	MMP1	OMIM:226600
HP:0025033	Abnormality of digestive system morphology	6657	SOX2	ORPHA:77298
HP:0025033	Abnormality of digestive system morphology	6657	SOX2	OMIM:206900
HP:0025033	Abnormality of digestive system morphology	6657	SOX2	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	7528	YY1	ORPHA:506358
HP:0025033	Abnormality of digestive system morphology	5339	PLEC	OMIM:226730
HP:0025033	Abnormality of digestive system morphology	3691	ITGB4	OMIM:226730
HP:0025033	Abnormality of digestive system morphology	10606	PAICS	OMIM:619859
HP:0025033	Abnormality of digestive system morphology	5422	POLA1	OMIM:301030
HP:0025033	Abnormality of digestive system morphology	51729	WBP11	OMIM:619227
HP:0025033	Abnormality of digestive system morphology	6602	SMARCD1	OMIM:618779
HP:0025033	Abnormality of digestive system morphology	4990	SIX6	OMIM:206900
HP:0025033	Abnormality of digestive system morphology	9343	EFTUD2	OMIM:610536
HP:0025033	Abnormality of digestive system morphology	2260	FGFR1	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	128674	PROKR2	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	6658	SOX3	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	9915	ARNT2	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	8820	HESX1	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	5015	OTX2	ORPHA:3157
HP:0025033	Abnormality of digestive system morphology	5053	PAH	ORPHA:2209
HP:0025033	Abnormality of digestive system morphology	55650	PIGV	OMIM:239300
HP:0025033	Abnormality of digestive system morphology	6197	RPS6KA3	OMIM:303600
HP:0025033	Abnormality of digestive system morphology	2212	FCGR2A	OMIM:219700
HP:0025033	Abnormality of digestive system morphology	54496	PRMT7	OMIM:617157
HP:0025033	Abnormality of digestive system morphology	4000	LMNA	OMIM:619793
HP:0025033	Abnormality of digestive system morphology	6794	STK11	ORPHA:2869
HP:0025033	Abnormality of digestive system morphology	6794	STK11	OMIM:175200
HP:0025033	Abnormality of digestive system morphology	5728	PTEN	ORPHA:79076
HP:0025033	Abnormality of digestive system morphology	4629	MYH11	OMIM:619350
HP:0025033	Abnormality of digestive system morphology	64840	PORCN	OMIM:305600
HP:0025033	Abnormality of digestive system morphology	2132	EXT2	OMIM:616682
HP:0025033	Abnormality of digestive system morphology	84942	WDR73	OMIM:251300
HP:0025033	Abnormality of digestive system morphology	84942	WDR73	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	9719	ADAMTSL2	ORPHA:1901
HP:0025033	Abnormality of digestive system morphology	9509	ADAMTS2	ORPHA:1901
HP:0025033	Abnormality of digestive system morphology	6925	TCF4	ORPHA:2896
HP:0025033	Abnormality of digestive system morphology	5832	ALDH18A1	OMIM:601162
HP:0025033	Abnormality of digestive system morphology	1277	COL1A1	ORPHA:287
HP:0025033	Abnormality of digestive system morphology	1289	COL5A1	ORPHA:287
HP:0025033	Abnormality of digestive system morphology	1289	COL5A1	OMIM:619329
HP:0025033	Abnormality of digestive system morphology	1290	COL5A2	ORPHA:287
HP:0025033	Abnormality of digestive system morphology	7148	TNXB	OMIM:606408
HP:0025033	Abnormality of digestive system morphology	113189	CHST14	OMIM:601776
HP:0025033	Abnormality of digestive system morphology	715	C1R	OMIM:130080
HP:0025033	Abnormality of digestive system morphology	2743	GLRB	ORPHA:3197
HP:0025033	Abnormality of digestive system morphology	2743	GLRB	OMIM:614619
HP:0025033	Abnormality of digestive system morphology	2741	GLRA1	ORPHA:3197
HP:0025033	Abnormality of digestive system morphology	10243	GPHN	ORPHA:3197
HP:0025033	Abnormality of digestive system morphology	84896	ATAD1	ORPHA:3197
HP:0025033	Abnormality of digestive system morphology	9152	SLC6A5	ORPHA:3197
HP:0025033	Abnormality of digestive system morphology	9152	SLC6A5	OMIM:614618
HP:0025033	Abnormality of digestive system morphology	7043	TGFB3	OMIM:615582
HP:0025033	Abnormality of digestive system morphology	169792	GLIS3	OMIM:610199
HP:0025033	Abnormality of digestive system morphology	23261	CAMTA1	OMIM:614756
HP:0025033	Abnormality of digestive system morphology	84520	GON7	OMIM:619603
HP:0025033	Abnormality of digestive system morphology	51002	TPRKB	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	55644	OSGEP	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	55644	OSGEP	OMIM:617729
HP:0025033	Abnormality of digestive system morphology	57122	NUP107	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	10785	WDR4	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	55746	NUP133	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	112858	TP53RK	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	8270	LAGE3	ORPHA:2065
HP:0025033	Abnormality of digestive system morphology	51341	ZBTB7A	OMIM:619769
HP:0025033	Abnormality of digestive system morphology	2165	F13B	ORPHA:331
HP:0025033	Abnormality of digestive system morphology	2162	F13A1	ORPHA:331
HP:0025033	Abnormality of digestive system morphology	7454	WAS	OMIM:301000
HP:0025033	Abnormality of digestive system morphology	7454	WAS	ORPHA:906
HP:0025033	Abnormality of digestive system morphology	331	XIAP	OMIM:300635
HP:0025033	Abnormality of digestive system morphology	10616	RBCK1	OMIM:615895
HP:0025033	Abnormality of digestive system morphology	5243	ABCB1	OMIM:612244
HP:0025033	Abnormality of digestive system morphology	3257	HPS1	OMIM:203300
HP:0025033	Abnormality of digestive system morphology	987	LRBA	OMIM:614700
HP:0025033	Abnormality of digestive system morphology	7456	WIPF1	ORPHA:906
HP:0025033	Abnormality of digestive system morphology	8737	RIPK1	OMIM:618108
HP:0025033	Abnormality of digestive system morphology	10095	ARPC1B	OMIM:617718
HP:0025033	Abnormality of digestive system morphology	2542	SLC37A4	OMIM:232220
HP:0025033	Abnormality of digestive system morphology	2542	SLC37A4	OMIM:232240
HP:0025033	Abnormality of digestive system morphology	2542	SLC37A4	ORPHA:79259
HP:0025033	Abnormality of digestive system morphology	5293	PIK3CD	OMIM:619281
HP:0025033	Abnormality of digestive system morphology	2000	ELF4	OMIM:301074
HP:0025033	Abnormality of digestive system morphology	64127	NOD2	OMIM:266600
HP:0025033	Abnormality of digestive system morphology	3569	IL6	OMIM:266600
HP:0025033	Abnormality of digestive system morphology	57511	COG6	OMIM:614576
HP:0025033	Abnormality of digestive system morphology	345611	IRGM	OMIM:612278
HP:0025033	Abnormality of digestive system morphology	59067	IL21	OMIM:615767
HP:0025033	Abnormality of digestive system morphology	64858	DCLRE1B	OMIM:620133
HP:0025033	Abnormality of digestive system morphology	5297	PI4KA	OMIM:619708
HP:0025033	Abnormality of digestive system morphology	875	CBS	ORPHA:394
HP:0025033	Abnormality of digestive system morphology	7840	ALMS1	ORPHA:64
HP:0025033	Abnormality of digestive system morphology	79989	IFT56	OMIM:619534
HP:0025033	Abnormality of digestive system morphology	55532	SLC30A10	ORPHA:309854
HP:0025033	Abnormality of digestive system morphology	54567	DLL4	OMIM:616589
HP:0025033	Abnormality of digestive system morphology	54567	DLL4	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	2632	GBE1	OMIM:232500
HP:0025033	Abnormality of digestive system morphology	4851	NOTCH1	OMIM:616028
HP:0025033	Abnormality of digestive system morphology	4851	NOTCH1	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	3875	KRT18	OMIM:215600
HP:0025033	Abnormality of digestive system morphology	79991	STN1	OMIM:617341
HP:0025033	Abnormality of digestive system morphology	1716	DGUOK	OMIM:617068
HP:0025033	Abnormality of digestive system morphology	55340	GIMAP5	OMIM:619463
HP:0025033	Abnormality of digestive system morphology	5256	PHKA2	ORPHA:264580
HP:0025033	Abnormality of digestive system morphology	5261	PHKG2	ORPHA:264580
HP:0025033	Abnormality of digestive system morphology	113220	KIF12	OMIM:619662
HP:0025033	Abnormality of digestive system morphology	2783	GNB2	OMIM:619503
HP:0025033	Abnormality of digestive system morphology	9371	KIF3B	OMIM:618955
HP:0025033	Abnormality of digestive system morphology	540	ATP7B	OMIM:277900
HP:0025033	Abnormality of digestive system morphology	3516	RBPJ	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	57514	ARHGAP31	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	57572	DOCK6	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	285203	EOGT	ORPHA:974
HP:0025033	Abnormality of digestive system morphology	10320	IKZF1	ORPHA:36426
HP:0025033	Abnormality of digestive system morphology	54809	SAMD9	OMIM:617053
HP:0025033	Abnormality of digestive system morphology	79977	GRHL2	OMIM:616029
HP:0025033	Abnormality of digestive system morphology	10892	MALT1	OMIM:615468
HP:0025033	Abnormality of digestive system morphology	4854	NOTCH3	ORPHA:2591
HP:0025033	Abnormality of digestive system morphology	5159	PDGFRB	ORPHA:2591
HP:0025033	Abnormality of digestive system morphology	10043	TOM1	ORPHA:391487
HP:0025033	Abnormality of digestive system morphology	164656	TMPRSS6	ORPHA:209981
HP:0025033	Abnormality of digestive system morphology	6774	STAT3	OMIM:615952
HP:0025033	Abnormality of digestive system morphology	5979	RET	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	8516	ITGA8	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	26281	FGF20	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	2674	GFRA1	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	7484	WNT9B	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	80000	GREB1L	ORPHA:1848
HP:0025033	Abnormality of digestive system morphology	83737	ITCH	ORPHA:228426
HP:0025033	Abnormality of digestive system morphology	1281	COL3A1	ORPHA:286
HP:0025033	Abnormality of digestive system morphology	162	AP1B1	ORPHA:171851
HP:0025033	Abnormality of digestive system morphology	1174	AP1S1	ORPHA:171851
HP:0025033	Abnormality of digestive system morphology	50485	SMARCAL1	ORPHA:1830
HP:0025033	Abnormality of digestive system morphology	917	CD3G	OMIM:615607
HP:0025033	Abnormality of digestive system morphology	4645	MYO5B	OMIM:251850
HP:0025033	Abnormality of digestive system morphology	1908	EDN3	ORPHA:897
HP:0025033	Abnormality of digestive system morphology	1910	EDNRB	ORPHA:897
HP:0025033	Abnormality of digestive system morphology	6663	SOX10	ORPHA:897
HP:0025033	Abnormality of digestive system morphology	83483	PLVAP	OMIM:618183
HP:0025033	Abnormality of digestive system morphology	4351	MPI	ORPHA:79319
HP:0025033	Abnormality of digestive system morphology	4351	MPI	OMIM:602579
HP:0025033	Abnormality of digestive system morphology	6772	STAT1	OMIM:614162
HP:0025033	Abnormality of digestive system morphology	54914	FOCAD	OMIM:619991
HP:0025033	Abnormality of digestive system morphology	5286	PIK3C2A	OMIM:618440
HP:0025033	Abnormality of digestive system morphology	22900	CARD8	OMIM:619079
HP:0025033	Abnormality of digestive system morphology	29929	ALG6	ORPHA:79320
HP:0025033	Abnormality of digestive system morphology	56052	ALG1	ORPHA:79327
HP:0025033	Abnormality of digestive system morphology	100303755	PET117	OMIM:619063
HP:0025033	Abnormality of digestive system morphology	8694	DGAT1	OMIM:615863
HP:0025033	Abnormality of digestive system morphology	84342	COG8	ORPHA:95428
HP:0025033	Abnormality of digestive system morphology	79053	ALG8	OMIM:608104
HP:0025033	Abnormality of digestive system morphology	199221	DZIP1L	ORPHA:731
HP:0025033	Abnormality of digestive system morphology	5314	PKHD1	ORPHA:731
HP:0025033	Abnormality of digestive system morphology	7852	CXCR4	ORPHA:51636
HP:0025033	Abnormality of digestive system morphology	9939	RBM8A	OMIM:274000
HP:0025033	Abnormality of digestive system morphology	8241	RBM10	OMIM:311900
HP:0025033	Abnormality of digestive system morphology	51780	KDM3B	OMIM:618846
HP:0025033	Abnormality of digestive system morphology	815	CAMK2A	OMIM:617798
HP:0025033	Abnormality of digestive system morphology	1063	CENPF	OMIM:243605
HP:0025033	Abnormality of digestive system morphology	25914	RTTN	ORPHA:468631
HP:0025033	Abnormality of digestive system morphology	25790	CFAP45	OMIM:619608
HP:0025033	Abnormality of digestive system morphology	2201	FBN2	ORPHA:115
HP:0025033	Abnormality of digestive system morphology	79651	RHBDF2	ORPHA:2198
HP:0025033	Abnormality of digestive system morphology	79600	TCTN1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	79848	CSPP1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	51684	SUFU	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	54806	AHI1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	54806	AHI1	ORPHA:220493
HP:0025033	Abnormality of digestive system morphology	65250	CPLANE1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	91147	TMEM67	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	200894	ARL13B	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	9731	CEP104	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	219844	HYLS1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	23247	KATNIP	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	219854	TMEM218	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	95681	CEP41	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	95681	CEP41	ORPHA:220493
HP:0025033	Abnormality of digestive system morphology	9786	KIAA0586	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	56623	INPP5E	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	56623	INPP5E	ORPHA:220493
HP:0025033	Abnormality of digestive system morphology	79867	TCTN2	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	80776	B9D2	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	10464	PIBF1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	80210	ARMC9	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	23116	TOGARAM1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	25776	CBY1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	27077	B9D1	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	403	ARL3	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	65062	TMEM237	ORPHA:475
HP:0025033	Abnormality of digestive system morphology	65062	TMEM237	ORPHA:220497
HP:0025033	Abnormality of digestive system morphology	65062	TMEM237	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	6535	SLC6A8	OMIM:300352
HP:0025033	Abnormality of digestive system morphology	6535	SLC6A8	ORPHA:52503
HP:0025033	Abnormality of digestive system morphology	10262	SF3B4	OMIM:154400
HP:0025033	Abnormality of digestive system morphology	8929	PHOX2B	OMIM:209880
HP:0025033	Abnormality of digestive system morphology	8929	PHOX2B	OMIM:613013
HP:0025033	Abnormality of digestive system morphology	8929	PHOX2B	ORPHA:661
HP:0025033	Abnormality of digestive system morphology	8929	PHOX2B	ORPHA:99803
HP:0025033	Abnormality of digestive system morphology	8929	PHOX2B	ORPHA:2151
HP:0025033	Abnormality of digestive system morphology	26128	KIFBP	OMIM:609460
HP:0025033	Abnormality of digestive system morphology	26128	KIFBP	ORPHA:66629
HP:0025033	Abnormality of digestive system morphology	64324	NSD1	ORPHA:821
HP:0025033	Abnormality of digestive system morphology	29072	SETD2	ORPHA:821
HP:0025033	Abnormality of digestive system morphology	10297	APC2	ORPHA:821
HP:0025033	Abnormality of digestive system morphology	2668	GDNF	ORPHA:661
HP:0025033	Abnormality of digestive system morphology	2668	GDNF	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	2668	GDNF	OMIM:613711
HP:0025033	Abnormality of digestive system morphology	627	BDNF	ORPHA:661
HP:0025033	Abnormality of digestive system morphology	283446	MYO1H	ORPHA:661
HP:0025033	Abnormality of digestive system morphology	215	ABCD1	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	1889	ECE1	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	1889	ECE1	OMIM:613870
HP:0025033	Abnormality of digestive system morphology	6720	SREBF1	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	223117	SEMA3D	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	10512	SEMA3C	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	2064	ERBB2	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	4902	NRTN	ORPHA:388
HP:0025033	Abnormality of digestive system morphology	51360	MBTPS2	OMIM:308205
HP:0025033	Abnormality of digestive system morphology	51360	MBTPS2	ORPHA:2273
HP:0025033	Abnormality of digestive system morphology	51360	MBTPS2	ORPHA:85284
HP:0025033	Abnormality of digestive system morphology	83479	DDX59	ORPHA:2919
HP:0025033	Abnormality of digestive system morphology	83479	DDX59	OMIM:174300
HP:0025033	Abnormality of digestive system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0025033	Abnormality of digestive system morphology	4867	NPHP1	ORPHA:220497
HP:0025033	Abnormality of digestive system morphology	429	ASCL1	ORPHA:99803
HP:0025033	Abnormality of digestive system morphology	6591	SNAI2	ORPHA:2884
HP:0025033	Abnormality of digestive system morphology	6591	SNAI2	ORPHA:895
HP:0025033	Abnormality of digestive system morphology	7846	TUBA1A	ORPHA:171680
HP:0025033	Abnormality of digestive system morphology	7299	TYR	ORPHA:895
HP:0025033	Abnormality of digestive system morphology	4254	KITLG	ORPHA:895
HP:0025033	Abnormality of digestive system morphology	5077	PAX3	ORPHA:894
HP:0025033	Abnormality of digestive system morphology	5077	PAX3	OMIM:148820
HP:0025033	Abnormality of digestive system morphology	84992	PIGY	ORPHA:247262
HP:0025033	Abnormality of digestive system morphology	93210	PGAP3	ORPHA:247262
HP:0025033	Abnormality of digestive system morphology	284098	PIGW	ORPHA:247262
HP:0025033	Abnormality of digestive system morphology	9487	PIGL	ORPHA:247262
HP:0025033	Abnormality of digestive system morphology	84100	ARL6	OMIM:209900
HP:0025033	Abnormality of digestive system morphology	79140	CCDC28B	OMIM:209900
HP:0025033	Abnormality of digestive system morphology	582	BBS1	OMIM:209900
HP:0025033	Abnormality of digestive system morphology	546	ATRX	ORPHA:847
HP:0025033	Abnormality of digestive system morphology	79583	TMEM231	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	51524	TMEM138	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	23090	ZNF423	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	80184	CEP290	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	51259	TMEM216	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	57545	CC2D2A	ORPHA:2318
HP:0025033	Abnormality of digestive system morphology	3897	L1CAM	OMIM:304100
HP:0025033	Abnormality of digestive system morphology	3897	L1CAM	ORPHA:1497
HP:0025033	Abnormality of digestive system morphology	26040	SETBP1	ORPHA:798
HP:0025033	Abnormality of digestive system morphology	2065	ERBB3	OMIM:243180
HP:0025033	Abnormality of digestive system morphology	5310	PKD1	OMIM:173900
HP:0025033	Abnormality of digestive system morphology	4638	MYLK	OMIM:249210
HP:0025033	Abnormality of digestive system morphology	4638	MYLK	ORPHA:2241
HP:0025033	Abnormality of digestive system morphology	2138	EYA1	OMIM:113650
HP:0025033	Abnormality of digestive system morphology	6495	SIX1	OMIM:113650
HP:0025033	Abnormality of digestive system morphology	4750	NEK1	OMIM:263520
HP:0025033	Abnormality of digestive system morphology	2627	GATA6	OMIM:600001
HP:0025033	Abnormality of digestive system morphology	2627	GATA6	ORPHA:2140
HP:0025033	Abnormality of digestive system morphology	2627	GATA6	ORPHA:2255
HP:0025033	Abnormality of digestive system morphology	1387	CREBBP	ORPHA:353281
HP:0025033	Abnormality of digestive system morphology	1387	CREBBP	ORPHA:353277
HP:0025033	Abnormality of digestive system morphology	80816	ASXL3	OMIM:615485
HP:0025033	Abnormality of digestive system morphology	89910	UBE3B	OMIM:244450
HP:0025033	Abnormality of digestive system morphology	8882	ZPR1	OMIM:619321
HP:0025033	Abnormality of digestive system morphology	5915	RARB	OMIM:615524
HP:0025033	Abnormality of digestive system morphology	55997	CFC1	OMIM:605376
HP:0025033	Abnormality of digestive system morphology	4853	NOTCH2	OMIM:102500
HP:0025033	Abnormality of digestive system morphology	4853	NOTCH2	ORPHA:955
HP:0025033	Abnormality of digestive system morphology	7994	KAT6A	ORPHA:457193
HP:0025033	Abnormality of digestive system morphology	7994	KAT6A	OMIM:616268
HP:0025033	Abnormality of digestive system morphology	118856	MMP21	OMIM:616749
HP:0025033	Abnormality of digestive system morphology	3670	ISL1	ORPHA:93930
HP:0025033	Abnormality of digestive system morphology	8091	HMGA2	ORPHA:94063
HP:0025033	Abnormality of digestive system morphology	23592	LEMD3	ORPHA:94063
HP:0025033	Abnormality of digestive system morphology	23414	ZFPM2	ORPHA:2140
HP:0025033	Abnormality of digestive system morphology	4036	LRP2	ORPHA:2143
HP:0025033	Abnormality of digestive system morphology	4036	LRP2	OMIM:222448
HP:0025033	Abnormality of digestive system morphology	3192	HNRNPU	ORPHA:238769
HP:0025033	Abnormality of digestive system morphology	10056	FARSB	OMIM:613658
HP:0025033	Abnormality of digestive system morphology	1718	DHCR24	ORPHA:35107
HP:0025033	Abnormality of digestive system morphology	27031	NPHP3	OMIM:208540
HP:0025033	Abnormality of digestive system morphology	27031	NPHP3	ORPHA:3032
HP:0025033	Abnormality of digestive system morphology	112752	IFT43	OMIM:617866
HP:0025033	Abnormality of digestive system morphology	9772	TMEM94	OMIM:618316
HP:0025033	Abnormality of digestive system morphology	25802	LMOD1	ORPHA:2241
HP:0025033	Abnormality of digestive system morphology	745	MYRF	OMIM:618280
HP:0025033	Abnormality of digestive system morphology	4087	SMAD2	OMIM:619657
HP:0025033	Abnormality of digestive system morphology	59	ACTA2	OMIM:613834
HP:0025033	Abnormality of digestive system morphology	79087	ALG12	ORPHA:79324
HP:0025033	Abnormality of digestive system morphology	25981	DNAH1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	115948	ODAD3	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	54768	HYDIN	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	352909	DNAAF3	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	27148	STK36	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	51314	NME8	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	92749	DRC1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	54970	TTC12	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	152110	NEK10	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	8481	OFD1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	2302	FOXJ1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	221421	RSPH9	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	85478	CCDC65	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	55036	CCDC40	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	51364	ZMYND10	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	64446	DNAI2	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	6674	SPAG1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	83544	DNAL1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	89765	RSPH1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	83538	ODAD4	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	200373	CFAP221	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	374407	DNAJB13	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	55172	DNAAF2	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	161582	DNAAF4	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	2622	GAS8	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	23639	DNAAF11	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	27019	DNAI1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	345895	RSPH4A	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	54919	DNAAF5	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	6103	RPGR	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	388389	CCDC103	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	93233	ODAD1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	55130	ODAD2	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	1767	DNAH5	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	83861	RSPH3	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	345643	MCIDAS	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	56683	CFAP298	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	79925	SPEF2	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	10309	CCNO	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	115399	LRRC56	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	139212	DNAAF6	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	123872	DNAAF1	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	85016	CFAP300	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	339829	CCDC39	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	8701	DNAH11	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	1770	DNAH9	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	246176	GAS2L2	ORPHA:244
HP:0025033	Abnormality of digestive system morphology	51128	SAR1B	OMIM:246700
HP:0025033	Abnormality of digestive system morphology	51128	SAR1B	ORPHA:71
HP:0025033	Abnormality of digestive system morphology	9414	TJP2	OMIM:607748
HP:0025033	Abnormality of digestive system morphology	3988	LIPA	ORPHA:75233
HP:0025033	Abnormality of digestive system morphology	3988	LIPA	OMIM:278000
HP:0025033	Abnormality of digestive system morphology	9056	SLC7A7	ORPHA:470
HP:0025033	Abnormality of digestive system morphology	51651	PTRH2	OMIM:616263
HP:0025033	Abnormality of digestive system morphology	6555	SLC10A2	OMIM:613291
HP:0025033	Abnormality of digestive system morphology	57003	CCDC47	OMIM:618268
HP:0025033	Abnormality of digestive system morphology	3930	LBR	OMIM:613471
HP:0025033	Abnormality of digestive system morphology	6718	AKR1D1	OMIM:235555
HP:0025033	Abnormality of digestive system morphology	6718	AKR1D1	ORPHA:79303
HP:0025033	Abnormality of digestive system morphology	338	APOB	OMIM:615558
HP:0025033	Abnormality of digestive system morphology	3117	HLA-DQA1	OMIM:212750
HP:0025033	Abnormality of digestive system morphology	3119	HLA-DQB1	OMIM:212750
HP:0025033	Abnormality of digestive system morphology	256297	PTF1A	OMIM:615935
HP:0025033	Abnormality of digestive system morphology	11330	CTRC	OMIM:167800
HP:0025033	Abnormality of digestive system morphology	6690	SPINK1	OMIM:167800
HP:0025033	Abnormality of digestive system morphology	5645	PRSS2	OMIM:167800
HP:0025033	Abnormality of digestive system morphology	5644	PRSS1	OMIM:167800
HP:0025033	Abnormality of digestive system morphology	4547	MTTP	ORPHA:14
HP:0025033	Abnormality of digestive system morphology	123264	SLC51B	OMIM:619481
HP:0025033	Abnormality of digestive system morphology	6729	SRP54	OMIM:618752
HP:0025033	Abnormality of digestive system morphology	6729	SRP54	OMIM:260400
HP:0025033	Abnormality of digestive system morphology	6729	SRP54	ORPHA:811
HP:0025033	Abnormality of digestive system morphology	51119	SBDS	OMIM:260400
HP:0025033	Abnormality of digestive system morphology	51119	SBDS	ORPHA:811
HP:0025033	Abnormality of digestive system morphology	134218	DNAJC21	OMIM:260400
HP:0025033	Abnormality of digestive system morphology	134218	DNAJC21	ORPHA:811
HP:0025033	Abnormality of digestive system morphology	79631	EFL1	OMIM:617941
HP:0025033	Abnormality of digestive system morphology	79631	EFL1	ORPHA:811
HP:0025033	Abnormality of digestive system morphology	5406	PNLIP	OMIM:614338
HP:0025033	Abnormality of digestive system morphology	8309	ACOX2	OMIM:617308
HP:0025033	Abnormality of digestive system morphology	23729	SHPK	ORPHA:440713
HP:0025033	Abnormality of digestive system morphology	84701	COX4I2	OMIM:612714
HP:0025033	Abnormality of digestive system morphology	5373	PMM2	OMIM:212065
HP:0025033	Abnormality of digestive system morphology	10054	UBA2	OMIM:619959
HP:0025033	Abnormality of digestive system morphology	6558	SLC12A2	OMIM:619083
HP:0025033	Abnormality of digestive system morphology	55788	LMBRD1	OMIM:277380
HP:0025033	Abnormality of digestive system morphology	9723	SEMA3E	ORPHA:138
HP:0025033	Abnormality of digestive system morphology	412	STS	ORPHA:281090
HP:0025033	Abnormality of digestive system morphology	129563	DIS3L2	OMIM:267000
HP:0025033	Abnormality of digestive system morphology	738	VPS51	OMIM:618606
HP:0025033	Abnormality of digestive system morphology	55690	PACS1	OMIM:615009
HP:0025033	Abnormality of digestive system morphology	7407	VARS1	OMIM:617802
HP:0025033	Abnormality of digestive system morphology	64135	IFIH1	OMIM:615846
HP:0025033	Abnormality of digestive system morphology	50619	DEF6	OMIM:619573
HP:0025033	Abnormality of digestive system morphology	1493	CTLA4	OMIM:616100
HP:0025033	Abnormality of digestive system morphology	9051	PSTPIP1	OMIM:604416
HP:0025033	Abnormality of digestive system morphology	356	FASLG	ORPHA:3261
HP:0025033	Abnormality of digestive system morphology	843	CASP10	ORPHA:3261
HP:0025033	Abnormality of digestive system morphology	10125	RASGRP1	ORPHA:3261
HP:0025033	Abnormality of digestive system morphology	10625	IVNS1ABP	OMIM:618969
HP:0025033	Abnormality of digestive system morphology	6499	SKIC2	OMIM:614602
HP:0025033	Abnormality of digestive system morphology	6499	SKIC2	ORPHA:84064
HP:0025033	Abnormality of digestive system morphology	5551	PRF1	ORPHA:540
HP:0025033	Abnormality of digestive system morphology	8676	STX11	ORPHA:540
HP:0025033	Abnormality of digestive system morphology	201294	UNC13D	ORPHA:540
HP:0025033	Abnormality of digestive system morphology	6813	STXBP2	ORPHA:540
HP:0025033	Abnormality of digestive system morphology	6813	STXBP2	OMIM:613101
HP:0025033	Abnormality of digestive system morphology	6850	SYK	OMIM:619381
HP:0025033	Abnormality of digestive system morphology	8915	BCL10	OMIM:616098
HP:0025033	Abnormality of digestive system morphology	23149	FCHO1	OMIM:619164
HP:0025033	Abnormality of digestive system morphology	146206	CARMIL2	OMIM:618131
HP:0025033	Abnormality of digestive system morphology	9652	SKIC3	ORPHA:84064
HP:0025033	Abnormality of digestive system morphology	7535	ZAP70	OMIM:617006
HP:0025033	Abnormality of digestive system morphology	7535	ZAP70	ORPHA:911
HP:0025033	Abnormality of digestive system morphology	3587	IL10RA	OMIM:613148
HP:0025033	Abnormality of digestive system morphology	5294	PIK3CG	OMIM:619802
HP:0025033	Abnormality of digestive system morphology	338328	GPIHBP1	OMIM:615947
HP:0025033	Abnormality of digestive system morphology	7010	TEK	ORPHA:1059
HP:0025033	Abnormality of digestive system morphology	7010	TEK	OMIM:600195
HP:0025033	Abnormality of digestive system morphology	64132	XYLT2	OMIM:605822
HP:0025033	Abnormality of digestive system morphology	4221	MEN1	ORPHA:652
HP:0025033	Abnormality of digestive system morphology	1027	CDKN1B	ORPHA:652
HP:0025033	Abnormality of digestive system morphology	1026	CDKN1A	ORPHA:652
HP:0025033	Abnormality of digestive system morphology	1031	CDKN2C	ORPHA:652
HP:0025033	Abnormality of digestive system morphology	5340	PLG	OMIM:217090
HP:0025033	Abnormality of digestive system morphology	5340	PLG	ORPHA:722
HP:0025033	Abnormality of digestive system morphology	91574	MTRFR	ORPHA:254930
HP:0025033	Abnormality of digestive system morphology	91574	MTRFR	OMIM:613559
HP:0025033	Abnormality of digestive system morphology	2184	FAH	OMIM:276700
HP:0025033	Abnormality of digestive system morphology	57492	ARID1B	OMIM:135900
HP:0025033	Abnormality of digestive system morphology	2629	GBA1	ORPHA:2072
HP:0025033	Abnormality of digestive system morphology	9780	PIEZO1	OMIM:616843
HP:0025033	Abnormality of digestive system morphology	2130	EWSR1	ORPHA:83469
HP:0025033	Abnormality of digestive system morphology	7490	WT1	ORPHA:83469
HP:0025033	Abnormality of digestive system morphology	5498	PPOX	ORPHA:79473
HP:0025033	Abnormality of digestive system morphology	3145	HMBS	ORPHA:79276
HP:0025033	Abnormality of digestive system morphology	26153	KIF26A	OMIM:620156
HP:0025033	Abnormality of digestive system morphology	23314	SATB2	ORPHA:576283
HP:0025033	Abnormality of digestive system morphology	51322	WAC	ORPHA:284169
HP:0025033	Abnormality of digestive system morphology	51256	TBC1D7	OMIM:248000
HP:0025033	Abnormality of digestive system morphology	8651	SOCS1	OMIM:619375
HP:0025033	Abnormality of digestive system morphology	6777	STAT5B	OMIM:618985
HP:0025033	Abnormality of digestive system morphology	3594	IL12RB1	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	23534	TNPO3	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	6689	SPIB	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	5450	POU2AF1	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	9966	TNFSF15	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	79258	MMEL1	ORPHA:186
HP:0025033	Abnormality of digestive system morphology	10847	SRCAP	OMIM:136140
HP:0025033	Abnormality of digestive system morphology	10847	SRCAP	ORPHA:2044
HP:0025033	Abnormality of digestive system morphology	29998	BICRA	OMIM:619325
HP:0025033	Abnormality of digestive system morphology	4953	ODC1	ORPHA:544488
HP:0025033	Abnormality of digestive system morphology	11146	GLMN	ORPHA:83454
HP:0025033	Abnormality of digestive system morphology	8647	ABCB11	OMIM:601847
HP:0025033	Abnormality of digestive system morphology	5205	ATP8B1	OMIM:211600
HP:0025033	Abnormality of digestive system morphology	23600	AMACR	OMIM:214950
HP:0025033	Abnormality of digestive system morphology	716	C1S	OMIM:617174
HP:0025033	Abnormality of digestive system morphology	4913	NTHL1	ORPHA:454840
HP:0025033	Abnormality of digestive system morphology	4913	NTHL1	OMIM:616415
HP:0025033	Abnormality of digestive system morphology	8930	MBD4	OMIM:619975
HP:0025033	Abnormality of digestive system morphology	4092	SMAD7	OMIM:612229
HP:0025033	Abnormality of digestive system morphology	4595	MUTYH	OMIM:608456
HP:0025033	Abnormality of digestive system morphology	6223	RPS19	OMIM:105650
HP:0025033	Abnormality of digestive system morphology	4193	MDM2	ORPHA:524
HP:0025033	Abnormality of digestive system morphology	9184	BUB3	ORPHA:1052
HP:0025033	Abnormality of digestive system morphology	9702	CEP57	ORPHA:1052
HP:0025033	Abnormality of digestive system morphology	9319	TRIP13	ORPHA:1052
HP:0025033	Abnormality of digestive system morphology	285282	RABL3	ORPHA:1333
HP:0025033	Abnormality of digestive system morphology	23022	PALLD	ORPHA:1333
HP:0025033	Abnormality of digestive system morphology	2304	FOXE1	ORPHA:319487
HP:0025033	Abnormality of digestive system morphology	3026	HABP2	ORPHA:319487
HP:0025033	Abnormality of digestive system morphology	9562	MINPP1	ORPHA:319487
HP:0025033	Abnormality of digestive system morphology	4437	MSH3	ORPHA:480536
HP:0025033	Abnormality of digestive system morphology	1244	ABCC2	ORPHA:234
HP:0025033	Abnormality of digestive system morphology	10225	CD96	ORPHA:1308
HP:0025033	Abnormality of digestive system morphology	58484	NLRC4	OMIM:616050
HP:0025033	Abnormality of digestive system morphology	26873	OPLAH	OMIM:260005
HP:0025033	Abnormality of digestive system morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025033	Abnormality of digestive system morphology	3190	HNRNPK	ORPHA:453504
HP:0025033	Abnormality of digestive system morphology	3190	HNRNPK	ORPHA:352665
HP:0025033	Abnormality of digestive system morphology	4558	MT-TF	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4572	MT-TQ	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4512	MT-CO1	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4513	MT-CO2	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4514	MT-CO3	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4578	MT-TW	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4540	MT-ND5	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4541	MT-ND6	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4535	MT-ND1	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4538	MT-ND4	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4574	MT-TS1	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4575	MT-TS2	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	4564	MT-TH	ORPHA:550
HP:0025033	Abnormality of digestive system morphology	56652	TWNK	OMIM:607459
HP:0025033	Abnormality of digestive system morphology	56652	TWNK	ORPHA:70595
HP:0025033	Abnormality of digestive system morphology	151648	SGO1	OMIM:616201
HP:0025033	Abnormality of digestive system morphology	3423	IDS	OMIM:309900
HP:0025033	Abnormality of digestive system morphology	3980	LIG3	OMIM:619780
HP:0025033	Abnormality of digestive system morphology	6392	SDHD	ORPHA:201
HP:0025033	Abnormality of digestive system morphology	205717	USF3	ORPHA:201
HP:0025033	Abnormality of digestive system morphology	100144748	KLLN	ORPHA:201
HP:0025033	Abnormality of digestive system morphology	11277	TREX1	OMIM:225750
HP:0025033	Abnormality of digestive system morphology	64359	NXN	ORPHA:1507
HP:0025033	Abnormality of digestive system morphology	4920	ROR2	ORPHA:1507
HP:0025033	Abnormality of digestive system morphology	79577	CDC73	ORPHA:143
HP:0025033	Abnormality of digestive system morphology	79577	CDC73	ORPHA:99880
HP:0025033	Abnormality of digestive system morphology	1175	AP2S1	OMIM:600740
HP:0025033	Abnormality of digestive system morphology	2767	GNA11	OMIM:145981
HP:0025033	Abnormality of digestive system morphology	6572	SLC18A3	OMIM:617239
HP:0025033	Abnormality of digestive system morphology	2984	GUCY2C	OMIM:614665
HP:0025033	Abnormality of digestive system morphology	2022	ENG	ORPHA:329971
HP:0025033	Abnormality of digestive system morphology	2317	FLNB	ORPHA:1190
HP:0025033	Abnormality of digestive system morphology	2475	MTOR	ORPHA:457485
HP:0025033	Abnormality of digestive system morphology	5238	PGM3	ORPHA:443811
HP:0025033	Abnormality of digestive system morphology	6304	SATB1	OMIM:619229
HP:0025033	Abnormality of digestive system morphology	115908	CTHRC1	OMIM:614266
HP:0025033	Abnormality of digestive system morphology	4481	MSR1	OMIM:614266
HP:0025033	Abnormality of digestive system morphology	51008	ASCC1	OMIM:614266
HP:0025033	Abnormality of digestive system morphology	5321	PLA2G4A	OMIM:618372
HP:0025033	Abnormality of digestive system morphology	1024	CDK8	OMIM:618748
HP:0025033	Abnormality of digestive system morphology	29940	DSE	ORPHA:2953
HP:0025033	Abnormality of digestive system morphology	54361	WNT4	ORPHA:139466
HP:0025033	Abnormality of digestive system morphology	53834	FGFRL1	OMIM:194190
HP:0025033	Abnormality of digestive system morphology	1487	CTBP1	OMIM:194190
HP:0025033	Abnormality of digestive system morphology	3954	LETM1	OMIM:194190
HP:0025033	Abnormality of digestive system morphology	7468	NSD2	OMIM:194190
HP:0025033	Abnormality of digestive system morphology	10815	CPLX1	OMIM:194190
HP:0025033	Abnormality of digestive system morphology	5727	PTCH1	OMIM:109400
HP:0025033	Abnormality of digestive system morphology	488	ATP2A2	ORPHA:218
HP:0025033	Abnormality of digestive system morphology	26191	PTPN22	ORPHA:900
HP:0025033	Abnormality of digestive system morphology	3115	HLA-DPB1	ORPHA:900
HP:0025033	Abnormality of digestive system morphology	5657	PRTN3	ORPHA:900
HP:0025033	Abnormality of digestive system morphology	3113	HLA-DPA1	ORPHA:900
HP:0025033	Abnormality of digestive system morphology	4598	MVK	ORPHA:343
HP:0025033	Abnormality of digestive system morphology	2131	EXT1	ORPHA:321
HP:0025033	Abnormality of digestive system morphology	4609	MYC	ORPHA:543
HP:0025033	Abnormality of digestive system morphology	6905	TBCE	ORPHA:2323
HP:0025033	Abnormality of digestive system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025033	Abnormality of digestive system morphology	5317	PKP1	ORPHA:158668
HP:0025033	Abnormality of digestive system morphology	2694	CBLIF	OMIM:261000
HP:0025033	Abnormality of digestive system morphology	3689	ITGB2	OMIM:116920
HP:0025033	Abnormality of digestive system morphology	5880	RAC2	OMIM:608203
HP:0025033	Abnormality of digestive system morphology	710	SERPING1	ORPHA:100050
HP:0025033	Abnormality of digestive system morphology	710	SERPING1	OMIM:106100
HP:0025033	Abnormality of digestive system morphology	2161	F12	OMIM:610618
HP:0025033	Abnormality of digestive system morphology	3514	IGKC	ORPHA:183675
HP:0025033	Abnormality of digestive system morphology	3501	IGHG2	ORPHA:183675
HP:0025033	Abnormality of digestive system morphology	4659	PPP1R12A	OMIM:618820
HP:0025033	Abnormality of digestive system morphology	407975	MIR17HG	ORPHA:391646
HP:0025033	Abnormality of digestive system morphology	8604	SLC25A12	OMIM:612949
HP:0025033	Abnormality of digestive system morphology	4927	NUP88	ORPHA:994
HP:0025033	Abnormality of digestive system morphology	4654	MYOD1	ORPHA:994
HP:0025033	Abnormality of digestive system morphology	4593	MUSK	ORPHA:994
HP:0025033	Abnormality of digestive system morphology	5913	RAPSN	ORPHA:994
HP:0025033	Abnormality of digestive system morphology	285489	DOK7	ORPHA:994
HP:0025033	Abnormality of digestive system morphology	5424	POLD1	OMIM:612591
HP:0025033	Abnormality of digestive system morphology	6714	SRC	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	201163	FLCN	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	10395	DLC1	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	11200	CHEK2	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	8313	AXIN2	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	2033	EP300	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	5782	PTPN12	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	5320	PLA2G2A	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	6790	AURKA	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	1630	DCC	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	581	BAX	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	25788	RAD54B	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	595	CCND1	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	699	BUB1	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	701	BUB1B	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	2261	FGFR3	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	7097	TLR2	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	4893	NRAS	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	7157	TP53	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	4163	MCC	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	207	AKT1	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	5157	PDGFRL	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	5795	PTPRJ	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	673	BRAF	OMIM:114500
HP:0025033	Abnormality of digestive system morphology	8314	BAP1	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	4286	MITF	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	1019	CDK4	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	4255	MGMT	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	54386	TERF2IP	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	4157	MC1R	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	1029	CDKN2A	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	25913	POT1	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	1030	CDKN2B	ORPHA:618
HP:0025033	Abnormality of digestive system morphology	4089	SMAD4	OMIM:174900
HP:0025033	Abnormality of digestive system morphology	6389	SDHA	ORPHA:44890
HP:0025033	Abnormality of digestive system morphology	6390	SDHB	ORPHA:44890
HP:0025033	Abnormality of digestive system morphology	6391	SDHC	ORPHA:44890
HP:0025033	Abnormality of digestive system morphology	5156	PDGFRA	ORPHA:44890
HP:0025033	Abnormality of digestive system morphology	3815	KIT	ORPHA:44890
HP:0025033	Abnormality of digestive system morphology	5573	PRKAR1A	ORPHA:1359
HP:0025033	Abnormality of digestive system morphology	50940	PDE11A	ORPHA:1359
HP:0025033	Abnormality of digestive system morphology	92579	G6PC3	OMIM:612541
HP:0025033	Abnormality of digestive system morphology	22806	IKZF3	OMIM:619437
HP:0025033	Abnormality of digestive system morphology	3588	IL10RB	OMIM:612567
HP:0025033	Abnormality of digestive system morphology	1991	ELANE	ORPHA:2686
HP:0025033	Abnormality of digestive system morphology	29926	GMPPA	OMIM:615510
HP:0025033	Abnormality of digestive system morphology	3655	ITGA6	OMIM:619817
HP:0025033	Abnormality of digestive system morphology	65057	ACD	OMIM:616553
HP:0025033	Abnormality of digestive system morphology	1294	COL7A1	ORPHA:89842
HP:0025033	Abnormality of digestive system morphology	1288	COL4A6	ORPHA:1018
HP:0025033	Abnormality of digestive system morphology	1287	COL4A5	ORPHA:1018
HP:0025033	Abnormality of digestive system morphology	6651	SON	OMIM:617140
HP:0025033	Abnormality of digestive system morphology	29925	GMPPB	OMIM:615351
HP:0025033	Abnormality of digestive system morphology	6049	RNF6	ORPHA:99977
HP:0025033	Abnormality of digestive system morphology	6049	RNF6	OMIM:133239
HP:0025033	Abnormality of digestive system morphology	51741	WWOX	ORPHA:99977
HP:0025033	Abnormality of digestive system morphology	51741	WWOX	OMIM:133239
HP:0025033	Abnormality of digestive system morphology	9940	DLEC1	ORPHA:99977
HP:0025033	Abnormality of digestive system morphology	11178	LZTS1	OMIM:133239
HP:0025033	Abnormality of digestive system morphology	55898	UNC45A	OMIM:619377
HP:0025033	Abnormality of digestive system morphology	7482	WNT2B	OMIM:618168
HP:0025033	Abnormality of digestive system morphology	79796	ALG9	ORPHA:79328
HP:0025033	Abnormality of digestive system morphology	10195	ALG3	OMIM:601110
HP:0025033	Abnormality of digestive system morphology	3559	IL2RA	OMIM:606367
HP:0025033	Abnormality of digestive system morphology	5774	PTPN3	ORPHA:70567
HP:0025033	Abnormality of digestive system morphology	9420	CYP7B1	OMIM:613812
HP:0025033	Abnormality of digestive system morphology	51473	DCDC2	OMIM:617394
HP:0025033	Abnormality of digestive system morphology	3553	IL1B	OMIM:613659
HP:0025033	Abnormality of digestive system morphology	3557	IL1RN	OMIM:613659
HP:0025033	Abnormality of digestive system morphology	3659	IRF1	OMIM:613659
HP:0025033	Abnormality of digestive system morphology	1316	KLF6	OMIM:613659
HP:0025033	Abnormality of digestive system morphology	7373	COL14A1	ORPHA:79501
HP:0025033	Abnormality of digestive system morphology	79719	AAGAB	ORPHA:79501
HP:0025033	Abnormality of digestive system morphology	26585	GREM1	ORPHA:157794
HP:0025033	Abnormality of digestive system morphology	1956	EGFR	ORPHA:294023
HP:0025033	Abnormality of digestive system morphology	51604	PIGT	ORPHA:369837
HP:0025033	Abnormality of digestive system morphology	28514	DLL1	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	28514	DLL1	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	28514	DLL1	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	28514	DLL1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	10735	STAG2	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	10735	STAG2	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	2253	FGF8	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	2253	FGF8	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	2253	FGF8	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	2253	FGF8	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	6496	SIX3	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	6496	SIX3	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	6496	SIX3	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	6496	SIX3	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	7050	TGIF1	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	7050	TGIF1	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	7050	TGIF1	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	7050	TGIF1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	4838	NODAL	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	4838	NODAL	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	4838	NODAL	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	4838	NODAL	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	6469	SHH	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	6469	SHH	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	6469	SHH	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	6469	SHH	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	7546	ZIC2	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	7546	ZIC2	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	7546	ZIC2	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	7546	ZIC2	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	6491	STIL	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	6491	STIL	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	6491	STIL	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	6491	STIL	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	2619	GAS1	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	2619	GAS1	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	2619	GAS1	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	2619	GAS1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	84976	DISP1	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	84976	DISP1	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	84976	DISP1	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	84976	DISP1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	2736	GLI2	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	2736	GLI2	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	2736	GLI2	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	2736	GLI2	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	8928	FOXH1	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	8928	FOXH1	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	8928	FOXH1	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	8928	FOXH1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	50937	CDON	ORPHA:220386
HP:0025033	Abnormality of digestive system morphology	50937	CDON	ORPHA:93926
HP:0025033	Abnormality of digestive system morphology	50937	CDON	ORPHA:93924
HP:0025033	Abnormality of digestive system morphology	50937	CDON	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	4010	LMX1B	ORPHA:2614
HP:0025033	Abnormality of digestive system morphology	23007	PLCH1	ORPHA:93925
HP:0025033	Abnormality of digestive system morphology	4621	MYH3	ORPHA:2990
HP:0025033	Abnormality of digestive system morphology	1146	CHRNG	ORPHA:2990
HP:0025033	Abnormality of digestive system morphology	55209	SETD5	ORPHA:404440
HP:0025033	Abnormality of digestive system morphology	9935	MAFB	ORPHA:233
HP:0025033	Abnormality of digestive system morphology	1123	CHN1	ORPHA:233
HP:0025033	Abnormality of digestive system morphology	341640	FREM2	OMIM:617666
HP:0025033	Abnormality of digestive system morphology	5889	RAD51C	OMIM:613390
HP:0025033	Abnormality of digestive system morphology	57217	TTC7A	OMIM:243150
HP:0025033	Abnormality of digestive system morphology	26123	TCTN3	ORPHA:2753
HP:0025033	Abnormality of digestive system morphology	55593	OTUD5	OMIM:301056
HP:0025033	Abnormality of digestive system morphology	3643	INSR	ORPHA:508
HP:0025033	Abnormality of digestive system morphology	7276	TTR	ORPHA:85451
HP:0025033	Abnormality of digestive system morphology	3938	LCT	OMIM:223000
HP:0025033	Abnormality of digestive system morphology	4175	MCM6	OMIM:223100
HP:0025033	Abnormality of digestive system morphology	50484	RRM2B	ORPHA:298
HP:0025033	Abnormality of digestive system morphology	56983	POGLUT1	ORPHA:79145
HP:0025033	Abnormality of digestive system morphology	3852	KRT5	ORPHA:79145
HP:0025033	Abnormality of digestive system morphology	23509	POFUT1	ORPHA:79145
HP:0025033	Abnormality of digestive system morphology	55851	PSENEN	ORPHA:79145
HP:0025033	Abnormality of digestive system morphology	79827	CLMP	OMIM:615237
HP:0025033	Abnormality of digestive system morphology	72	ACTG2	OMIM:155310
HP:0025033	Abnormality of digestive system morphology	567	B2M	ORPHA:314652
HP:0025033	Abnormality of digestive system morphology	3716	JAK1	OMIM:618999
HP:0025033	Abnormality of digestive system morphology	7128	TNFAIP3	OMIM:616744
HP:0025033	Abnormality of digestive system morphology	5970	RELA	OMIM:618287
HP:0025033	Abnormality of digestive system morphology	7389	UROD	ORPHA:95159
HP:0025033	Abnormality of digestive system morphology	7390	UROS	OMIM:263700
HP:0025033	Abnormality of digestive system morphology	7390	UROS	ORPHA:79277
HP:0025033	Abnormality of digestive system morphology	210	ALAD	ORPHA:100924
HP:0025033	Abnormality of digestive system morphology	1371	CPOX	OMIM:121300
HP:0025033	Abnormality of digestive system morphology	6868	ADAM17	OMIM:614328
HP:0025033	Abnormality of digestive system morphology	8547	FCN3	OMIM:613860
HP:0025033	Abnormality of digestive system morphology	37	ACADVL	OMIM:201475
HP:0025033	Abnormality of digestive system morphology	6809	STX3	OMIM:619445
HP:0025033	Abnormality of digestive system morphology	1811	SLC26A3	OMIM:214700
HP:0025033	Abnormality of digestive system morphology	6135	RPL11	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6138	RPL15	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6229	RPS24	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6125	RPL5	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6204	RPS10	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6165	RPL35A	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6232	RPS27	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6231	RPS26	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	11224	RPL35	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6160	RPL31	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6218	RPS17	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6201	RPS7	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6155	RPL27	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6154	RPL26	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6210	RPS15A	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	90121	TSR2	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6141	RPL18	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6235	RPS29	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	6234	RPS28	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	51816	ADA2	ORPHA:124
HP:0025033	Abnormality of digestive system morphology	5426	POLE	ORPHA:447877
HP:0025033	Abnormality of digestive system morphology	641	BLM	ORPHA:125
HP:0025033	Abnormality of digestive system morphology	2859	GPR35	ORPHA:171
HP:0025033	Abnormality of digestive system morphology	10507	SEMA4D	ORPHA:171
HP:0025033	Abnormality of digestive system morphology	4485	MST1	ORPHA:171
HP:0025033	Abnormality of digestive system morphology	60468	BACH2	OMIM:618394
HP:0025033	Abnormality of digestive system morphology	55765	INAVA	OMIM:618077
HP:0025033	Abnormality of digestive system morphology	10747	MASP2	OMIM:613791
HP:0025033	Abnormality of digestive system morphology	27178	IL37	OMIM:619398
HP:0025033	Abnormality of digestive system morphology	84433	CARD11	OMIM:617638
HP:0025033	Abnormality of digestive system morphology	5336	PLCG2	OMIM:614878
HP:0025033	Abnormality of digestive system morphology	2271	FH	ORPHA:523
HP:0025033	Abnormality of digestive system morphology	1794	DOCK2	OMIM:616433
HP:0025033	Abnormality of digestive system morphology	5966	REL	OMIM:619652
HP:0025033	Abnormality of digestive system morphology	60684	TRAPPC11	OMIM:615356
HP:0025033	Abnormality of digestive system morphology	3376	IARS1	ORPHA:541423
HP:0025033	Abnormality of digestive system morphology	2887	GRB10	ORPHA:96182
HP:0025033	Abnormality of digestive system morphology	6812	STXBP1	ORPHA:495818
HP:0025033	Abnormality of digestive system morphology	5723	PSPH	ORPHA:79350
HP:0025033	Abnormality of digestive system morphology	26227	PHGDH	ORPHA:79351
HP:0025033	Abnormality of digestive system morphology	10526	IPO8	OMIM:619472
HP:0025033	Abnormality of digestive system morphology	54894	RNF43	ORPHA:157798
HP:0025033	Abnormality of digestive system morphology	64220	STRA6	ORPHA:2470
HP:0025033	Abnormality of digestive system morphology	2658	GDF2	ORPHA:774
HP:0025033	Abnormality of digestive system morphology	94	ACVRL1	ORPHA:774
HP:0025033	Abnormality of digestive system morphology	2778	GNAS	OMIM:174800
HP:0025033	Abnormality of digestive system morphology	10483	SEC23B	OMIM:616858
HP:0025033	Abnormality of digestive system morphology	9817	KEAP1	ORPHA:276399
HP:0025033	Abnormality of digestive system morphology	23405	DICER1	ORPHA:276399
HP:0025033	Abnormality of digestive system morphology	4088	SMAD3	OMIM:613795
HP:0025033	Abnormality of digestive system morphology	7046	TGFBR1	OMIM:609192
HP:0025033	Abnormality of digestive system morphology	81704	DOCK8	OMIM:243700
HP:0025033	Abnormality of digestive system morphology	7042	TGFB2	OMIM:614816
HP:0025035	Abnormal proerythroblast morphology	9493	KIF23	ORPHA:98870
HP:0025035	Abnormal proerythroblast morphology	29127	RACGAP1	ORPHA:98870
HP:0025040	Thalamic edema	54820	NDE1	ORPHA:2177
HP:0025041	Thalamic calcification	58494	JAM2	OMIM:618824
HP:0025041	Thalamic calcification	57462	MYORG	OMIM:618317
HP:0025041	Thalamic calcification	5155	PDGFB	OMIM:615483
HP:0025042	Abnormality of mesenteric lymph nodes	3459	IFNGR1	OMIM:209950
HP:0025043	Enlarged mesenteric lymph node	3459	IFNGR1	OMIM:209950
HP:0025044	Lung abscess	567	B2M	OMIM:241600
HP:0025045	Abnormal brain lactate level by MRS	3735	KARS1	OMIM:619196
HP:0025045	Abnormal brain lactate level by MRS	4558	MT-TF	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4572	MT-TQ	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4512	MT-CO1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4513	MT-CO2	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4514	MT-CO3	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4578	MT-TW	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4540	MT-ND5	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4541	MT-ND6	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4535	MT-ND1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4538	MT-ND4	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4567	MT-TL1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4574	MT-TS1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4575	MT-TS2	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4564	MT-TH	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	10059	DNM1L	ORPHA:330050
HP:0025045	Abnormal brain lactate level by MRS	51241	COX16	OMIM:619355
HP:0025045	Abnormal brain lactate level by MRS	91574	MTRFR	ORPHA:254930
HP:0025045	Abnormal brain lactate level by MRS	91574	MTRFR	OMIM:613559
HP:0025045	Abnormal brain lactate level by MRS	51102	MECR	ORPHA:508093
HP:0025045	Abnormal brain lactate level by MRS	57128	LYRM4	OMIM:615595
HP:0025045	Abnormal brain lactate level by MRS	1593	CYP27A1	ORPHA:909
HP:0025045	Abnormal brain lactate level by MRS	64116	SLC39A8	OMIM:616721
HP:0025045	Abnormal brain lactate level by MRS	90624	LYRM7	OMIM:615838
HP:0025045	Abnormal brain lactate level by MRS	10667	FARS2	OMIM:614946
HP:0025045	Abnormal brain lactate level by MRS	57176	VARS2	OMIM:615917
HP:0025045	Abnormal brain lactate level by MRS	8802	SUCLG1	OMIM:245400
HP:0025045	Abnormal brain lactate level by MRS	6390	SDHB	OMIM:619224
HP:0025045	Abnormal brain lactate level by MRS	84842	HPDL	OMIM:619026
HP:0025045	Abnormal brain lactate level by MRS	5442	POLRMT	OMIM:619743
HP:0025045	Abnormal brain lactate level by MRS	65993	MRPS34	OMIM:617664
HP:0025045	Abnormal brain lactate level by MRS	1892	ECHS1	OMIM:616277
HP:0025045	Abnormal brain lactate level by MRS	58472	SQOR	OMIM:619221
HP:0025045	Abnormal brain lactate level by MRS	84340	GFM2	OMIM:618397
HP:0025045	Abnormal brain lactate level by MRS	27429	HTRA2	OMIM:617248
HP:0025045	Abnormal brain lactate level by MRS	137682	NDUFAF6	OMIM:618239
HP:0025045	Abnormal brain lactate level by MRS	4713	NDUFB7	OMIM:620135
HP:0025045	Abnormal brain lactate level by MRS	3028	HSD17B10	ORPHA:391428
HP:0025045	Abnormal brain lactate level by MRS	84342	COG8	OMIM:611182
HP:0025045	Abnormal brain lactate level by MRS	25915	NDUFAF3	ORPHA:70474
HP:0025045	Abnormal brain lactate level by MRS	4714	NDUFB8	ORPHA:70474
HP:0025045	Abnormal brain lactate level by MRS	4720	NDUFS2	ORPHA:70474
HP:0025045	Abnormal brain lactate level by MRS	9997	SCO2	ORPHA:70474
HP:0025045	Abnormal brain lactate level by MRS	6834	SURF1	ORPHA:70474
HP:0025047	Abnormal brain choline level by MRS	1593	CYP27A1	ORPHA:909
HP:0025047	Abnormal brain choline level by MRS	137682	NDUFAF6	OMIM:618239
HP:0025047	Abnormal brain choline level by MRS	2917	GRM7	OMIM:618922
HP:0025047	Abnormal brain choline level by MRS	1267	CNP	OMIM:619071
HP:0025047	Abnormal brain choline level by MRS	55768	NGLY1	OMIM:615273
HP:0025047	Abnormal brain choline level by MRS	2581	GALC	ORPHA:206436
HP:0025047	Abnormal brain choline level by MRS	5660	PSAP	ORPHA:206436
HP:0025047	Abnormal brain choline level by MRS	128240	NAXE	OMIM:617186
HP:0025047	Abnormal brain choline level by MRS	200205	IBA57	OMIM:615330
HP:0025049	Abnormal brain creatine level by MRS	6535	SLC6A8	OMIM:300352
HP:0025049	Abnormal brain creatine level by MRS	2593	GAMT	OMIM:612736
HP:0025049	Abnormal brain creatine level by MRS	2628	GATM	OMIM:612718
HP:0025051	Reduced brain creatine level by MRS	6535	SLC6A8	OMIM:300352
HP:0025051	Reduced brain creatine level by MRS	2593	GAMT	OMIM:612736
HP:0025051	Reduced brain creatine level by MRS	2628	GATM	OMIM:612718
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	55210	ATAD3A	OMIM:617183
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	1267	CNP	OMIM:619071
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	55768	NGLY1	OMIM:615273
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	339983	NAT8L	OMIM:614063
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	8913	CACNA1G	ORPHA:458803
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	644096	SDHAF1	OMIM:619166
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	6392	SDHD	OMIM:619167
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	84340	GFM2	OMIM:618397
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	23219	FBXO28	OMIM:619777
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	93627	TBCK	OMIM:616900
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	2917	GRM7	OMIM:618922
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	4713	NDUFB7	OMIM:620135
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	2581	GALC	ORPHA:206436
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	5660	PSAP	ORPHA:206436
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	8604	SLC25A12	OMIM:612949
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	7355	SLC35A2	ORPHA:356961
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	443	ASPA	OMIM:271900
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	443	ASPA	ORPHA:314911
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	10667	FARS2	OMIM:614946
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	54914	FOCAD	OMIM:619991
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	7355	SLC35A2	ORPHA:356961
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	443	ASPA	OMIM:271900
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	443	ASPA	ORPHA:314911
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	10667	FARS2	OMIM:614946
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	54914	FOCAD	OMIM:619991
HP:0025057	Abnormality of olfactory lobe morphology	3730	ANOS1	OMIM:308700
HP:0025057	Abnormality of olfactory lobe morphology	54903	MKS1	OMIM:249000
HP:0025057	Abnormality of olfactory lobe morphology	1908	EDN3	ORPHA:897
HP:0025057	Abnormality of olfactory lobe morphology	4286	MITF	ORPHA:897
HP:0025057	Abnormality of olfactory lobe morphology	1910	EDNRB	ORPHA:897
HP:0025057	Abnormality of olfactory lobe morphology	6663	SOX10	ORPHA:897
HP:0025057	Abnormality of olfactory lobe morphology	5277	PIGA	OMIM:300868
HP:0025057	Abnormality of olfactory lobe morphology	5189	PEX1	OMIM:214100
HP:0025058	Hypothalamic atrophy	80208	SPG11	ORPHA:2822
HP:0025065	Abnormal mean corpuscular volume	9493	KIF23	ORPHA:98870
HP:0025065	Abnormal mean corpuscular volume	29127	RACGAP1	ORPHA:98870
HP:0025065	Abnormal mean corpuscular volume	3978	LIG1	OMIM:619774
HP:0025065	Abnormal mean corpuscular volume	134218	DNAJC21	OMIM:617052
HP:0025065	Abnormal mean corpuscular volume	134218	DNAJC21	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	2694	CBLIF	OMIM:261000
HP:0025065	Abnormal mean corpuscular volume	3783	KCNN4	OMIM:616689
HP:0025065	Abnormal mean corpuscular volume	3783	KCNN4	ORPHA:3202
HP:0025065	Abnormal mean corpuscular volume	6135	RPL11	OMIM:612562
HP:0025065	Abnormal mean corpuscular volume	6135	RPL11	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6125	RPL5	OMIM:612561
HP:0025065	Abnormal mean corpuscular volume	6125	RPL5	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	4194	MDM4	OMIM:618849
HP:0025065	Abnormal mean corpuscular volume	6201	RPS7	OMIM:612563
HP:0025065	Abnormal mean corpuscular volume	6201	RPS7	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	219285	SAMD9L	OMIM:252270
HP:0025065	Abnormal mean corpuscular volume	10058	ABCB6	ORPHA:90044
HP:0025065	Abnormal mean corpuscular volume	27249	MMADHC	OMIM:277410
HP:0025065	Abnormal mean corpuscular volume	1719	DHFR	OMIM:613839
HP:0025065	Abnormal mean corpuscular volume	9780	PIEZO1	ORPHA:3202
HP:0025065	Abnormal mean corpuscular volume	1854	DUT	OMIM:620044
HP:0025065	Abnormal mean corpuscular volume	6223	RPS19	OMIM:105650
HP:0025065	Abnormal mean corpuscular volume	6223	RPS19	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6229	RPS24	OMIM:610629
HP:0025065	Abnormal mean corpuscular volume	6229	RPS24	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	54809	SAMD9	OMIM:619041
HP:0025065	Abnormal mean corpuscular volume	6138	RPL15	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6204	RPS10	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6224	RPS20	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6165	RPL35A	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	2623	GATA1	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6232	RPS27	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6231	RPS26	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	11224	RPL35	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6160	RPL31	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6218	RPS17	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6155	RPL27	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6154	RPL26	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6210	RPS15A	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	90121	TSR2	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	90121	TSR2	OMIM:300946
HP:0025065	Abnormal mean corpuscular volume	6141	RPL18	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6235	RPS29	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6234	RPS28	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	51816	ADA2	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	23395	LARS2	OMIM:617021
HP:0025065	Abnormal mean corpuscular volume	29123	ANKRD11	ORPHA:261250
HP:0025065	Abnormal mean corpuscular volume	2120	ETV6	OMIM:616216
HP:0025065	Abnormal mean corpuscular volume	4552	MTRR	ORPHA:2169
HP:0025065	Abnormal mean corpuscular volume	26277	TINF2	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	7012	TERC	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	7015	TERT	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	79631	EFL1	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	51119	SBDS	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	6729	SRP54	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	6005	RHAG	ORPHA:3203
HP:0025065	Abnormal mean corpuscular volume	9663	LPIN2	OMIM:609628
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:231222
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:231226
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:231214
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:90039
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:2133
HP:0025065	Abnormal mean corpuscular volume	374354	NHLRC2	OMIM:618278
HP:0025065	Abnormal mean corpuscular volume	55240	STEAP3	ORPHA:300298
HP:0025065	Abnormal mean corpuscular volume	55240	STEAP3	OMIM:615234
HP:0025065	Abnormal mean corpuscular volume	6521	SLC4A1	OMIM:611590
HP:0025065	Abnormal mean corpuscular volume	51218	GLRX5	OMIM:616860
HP:0025065	Abnormal mean corpuscular volume	4891	SLC11A2	OMIM:206100
HP:0025065	Abnormal mean corpuscular volume	54977	SLC25A38	OMIM:205950
HP:0025065	Abnormal mean corpuscular volume	51095	TRNT1	OMIM:616959
HP:0025065	Abnormal mean corpuscular volume	6710	SPTB	OMIM:617948
HP:0025066	Decreased mean corpuscular volume	9663	LPIN2	OMIM:609628
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231222
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231226
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231214
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:90039
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:2133
HP:0025066	Decreased mean corpuscular volume	374354	NHLRC2	OMIM:618278
HP:0025066	Decreased mean corpuscular volume	55240	STEAP3	ORPHA:300298
HP:0025066	Decreased mean corpuscular volume	55240	STEAP3	OMIM:615234
HP:0025066	Decreased mean corpuscular volume	6521	SLC4A1	OMIM:611590
HP:0025066	Decreased mean corpuscular volume	51218	GLRX5	OMIM:616860
HP:0025066	Decreased mean corpuscular volume	4891	SLC11A2	OMIM:206100
HP:0025066	Decreased mean corpuscular volume	54977	SLC25A38	OMIM:205950
HP:0025066	Decreased mean corpuscular volume	51095	TRNT1	OMIM:616959
HP:0025066	Decreased mean corpuscular volume	6710	SPTB	OMIM:617948
HP:0025068	Incomitant strabismus	10059	DNM1L	ORPHA:98673
HP:0025068	Incomitant strabismus	4976	OPA1	ORPHA:98673
HP:0025068	Incomitant strabismus	1123	CHN1	OMIM:604356
HP:0025068	Incomitant strabismus	170302	ARX	OMIM:300215
HP:0025068	Incomitant strabismus	57007	ACKR3	OMIM:619215
HP:0025068	Incomitant strabismus	92002	CCNQ	OMIM:300707
HP:0025068	Incomitant strabismus	10054	UBA2	OMIM:619959
HP:0025068	Incomitant strabismus	9969	MED13	OMIM:618009
HP:0025068	Incomitant strabismus	57167	SALL4	OMIM:607323
HP:0025068	Incomitant strabismus	63895	PIEZO2	OMIM:108145
HP:0025068	Incomitant strabismus	79848	CSPP1	ORPHA:397715
HP:0025068	Incomitant strabismus	9786	KIAA0586	ORPHA:397715
HP:0025068	Incomitant strabismus	6299	SALL1	OMIM:107480
HP:0025068	Incomitant strabismus	3198	HOXA1	OMIM:601536
HP:0025068	Incomitant strabismus	4330	MN1	OMIM:618774
HP:0025068	Incomitant strabismus	9935	MAFB	OMIM:617041
HP:0025068	Incomitant strabismus	153241	CEP120	OMIM:617761
HP:0025068	Incomitant strabismus	2702	GJA5	OMIM:612474
HP:0025068	Incomitant strabismus	2703	GJA8	OMIM:612474
HP:0025068	Incomitant strabismus	57178	ZMIZ1	OMIM:618659
HP:0025068	Incomitant strabismus	84570	COL25A1	OMIM:616219
HP:0025068	Incomitant strabismus	3781	KCNN2	OMIM:619724
HP:0025068	Incomitant strabismus	26012	NSMF	OMIM:614838
HP:0025070	Abnormal U wave	859	CAV3	OMIM:611818
HP:0025070	Abnormal U wave	3759	KCNJ2	OMIM:170390
HP:0025070	Abnormal U wave	3759	KCNJ2	ORPHA:37553
HP:0025070	Abnormal U wave	1188	CLCNKB	ORPHA:358
HP:0025070	Abnormal U wave	6559	SLC12A3	ORPHA:358
HP:0025070	Abnormal U wave	3762	KCNJ5	ORPHA:37553
HP:0025072	Prominent U wave	3759	KCNJ2	OMIM:170390
HP:0025072	Prominent U wave	3759	KCNJ2	ORPHA:37553
HP:0025072	Prominent U wave	1188	CLCNKB	ORPHA:358
HP:0025072	Prominent U wave	6559	SLC12A3	ORPHA:358
HP:0025072	Prominent U wave	3762	KCNJ5	ORPHA:37553
HP:0025074	Abnormal QRS complex	79188	TMEM43	OMIM:604400
HP:0025074	Abnormal QRS complex	3728	JUP	OMIM:601214
HP:0025074	Abnormal QRS complex	3728	JUP	OMIM:611528
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:261740
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:600858
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:194200
HP:0025074	Abnormal QRS complex	10265	IRX5	OMIM:611174
HP:0025074	Abnormal QRS complex	2702	GJA5	OMIM:614049
HP:0025074	Abnormal QRS complex	5318	PKP2	OMIM:609040
HP:0025074	Abnormal QRS complex	776	CACNA1D	OMIM:614896
HP:0025074	Abnormal QRS complex	2783	GNB2	OMIM:619464
HP:0025074	Abnormal QRS complex	6840	SVIL	OMIM:619040
HP:0025074	Abnormal QRS complex	3920	LAMP2	OMIM:300257
HP:0025075	Increased QRS voltage	6840	SVIL	OMIM:619040
HP:0025075	Increased QRS voltage	3920	LAMP2	OMIM:300257
HP:0025076	Abnormal QRS voltage	6840	SVIL	OMIM:619040
HP:0025076	Abnormal QRS voltage	3920	LAMP2	OMIM:300257
HP:0025080	Orthokeratotic hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0025080	Orthokeratotic hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0025080	Orthokeratotic hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0025080	Orthokeratotic hyperkeratosis	6820	SULT2B1	OMIM:617571
HP:0025080	Orthokeratotic hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0025080	Orthokeratotic hyperkeratosis	1828	DSG1	OMIM:148700
HP:0025080	Orthokeratotic hyperkeratosis	3858	KRT10	OMIM:146600
HP:0025081	Darier's sign	3815	KIT	ORPHA:79455
HP:0025082	Abnormal cutaneous elastic fiber morphology	23545	ATP6V0A2	ORPHA:2834
HP:0025082	Abnormal cutaneous elastic fiber morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025082	Abnormal cutaneous elastic fiber morphology	340665	CYP26C1	ORPHA:398189
HP:0025082	Abnormal cutaneous elastic fiber morphology	2006	ELN	ORPHA:90348
HP:0025082	Abnormal cutaneous elastic fiber morphology	10516	FBLN5	ORPHA:90348
HP:0025082	Abnormal cutaneous elastic fiber morphology	10516	FBLN5	ORPHA:90349
HP:0025082	Abnormal cutaneous elastic fiber morphology	5832	ALDH18A1	ORPHA:90348
HP:0025082	Abnormal cutaneous elastic fiber morphology	4052	LTBP1	ORPHA:90349
HP:0025082	Abnormal cutaneous elastic fiber morphology	30008	EFEMP2	ORPHA:90349
HP:0025082	Abnormal cutaneous elastic fiber morphology	523	ATP6V1A	ORPHA:357074
HP:0025082	Abnormal cutaneous elastic fiber morphology	529	ATP6V1E1	ORPHA:357074
HP:0025084	Folliculitis	10625	IVNS1ABP	OMIM:618969
HP:0025084	Folliculitis	10804	GJB6	ORPHA:477
HP:0025084	Folliculitis	2706	GJB2	ORPHA:477
HP:0025084	Folliculitis	51360	MBTPS2	OMIM:308800
HP:0025084	Folliculitis	3587	IL10RA	OMIM:613148
HP:0025084	Folliculitis	23765	IL17RA	OMIM:613953
HP:0025084	Folliculitis	3588	IL10RB	OMIM:612567
HP:0025084	Folliculitis	3872	KRT17	OMIM:167210
HP:0025084	Folliculitis	331	XIAP	OMIM:300635
HP:0025085	Bloody diarrhea	6720	SREBF1	OMIM:158310
HP:0025085	Bloody diarrhea	9493	KIF23	ORPHA:98870
HP:0025085	Bloody diarrhea	29127	RACGAP1	ORPHA:98870
HP:0025085	Bloody diarrhea	4221	MEN1	ORPHA:652
HP:0025085	Bloody diarrhea	1027	CDKN1B	ORPHA:652
HP:0025085	Bloody diarrhea	1026	CDKN1A	ORPHA:652
HP:0025085	Bloody diarrhea	1030	CDKN2B	ORPHA:652
HP:0025085	Bloody diarrhea	1031	CDKN2C	ORPHA:652
HP:0025085	Bloody diarrhea	2184	FAH	OMIM:276700
HP:0025085	Bloody diarrhea	2811	GP1BA	ORPHA:853
HP:0025085	Bloody diarrhea	2812	GP1BB	ORPHA:853
HP:0025085	Bloody diarrhea	3674	ITGA2B	ORPHA:853
HP:0025085	Bloody diarrhea	3673	ITGA2	ORPHA:853
HP:0025085	Bloody diarrhea	135228	CD109	ORPHA:853
HP:0025085	Bloody diarrhea	3690	ITGB3	ORPHA:853
HP:0025085	Bloody diarrhea	94	ACVRL1	OMIM:600376
HP:0025085	Bloody diarrhea	83483	PLVAP	OMIM:618183
HP:0025085	Bloody diarrhea	2022	ENG	OMIM:187300
HP:0025085	Bloody diarrhea	2022	ENG	ORPHA:329971
HP:0025085	Bloody diarrhea	57551	TAOK1	OMIM:619575
HP:0025085	Bloody diarrhea	57217	TTC7A	OMIM:243150
HP:0025085	Bloody diarrhea	4089	SMAD4	OMIM:174900
HP:0025085	Bloody diarrhea	4089	SMAD4	ORPHA:329971
HP:0025085	Bloody diarrhea	4089	SMAD4	OMIM:175050
HP:0025085	Bloody diarrhea	657	BMPR1A	OMIM:174900
HP:0025085	Bloody diarrhea	657	BMPR1A	ORPHA:157794
HP:0025085	Bloody diarrhea	657	BMPR1A	ORPHA:329971
HP:0025085	Bloody diarrhea	657	BMPR1A	ORPHA:79076
HP:0025085	Bloody diarrhea	26585	GREM1	ORPHA:157794
HP:0025085	Bloody diarrhea	10616	RBCK1	OMIM:615895
HP:0025085	Bloody diarrhea	3257	HPS1	OMIM:203300
HP:0025085	Bloody diarrhea	324	APC	ORPHA:99818
HP:0025085	Bloody diarrhea	7454	WAS	ORPHA:906
HP:0025085	Bloody diarrhea	7456	WIPF1	ORPHA:906
HP:0025085	Bloody diarrhea	9420	CYP7B1	OMIM:613812
HP:0025085	Bloody diarrhea	23600	AMACR	OMIM:214950
HP:0025085	Bloody diarrhea	23600	AMACR	ORPHA:79095
HP:0025085	Bloody diarrhea	10095	ARPC1B	OMIM:617718
HP:0025085	Bloody diarrhea	2153	F5	ORPHA:326
HP:0025085	Bloody diarrhea	64135	IFIH1	OMIM:615846
HP:0025085	Bloody diarrhea	3587	IL10RA	OMIM:613148
HP:0025085	Bloody diarrhea	5728	PTEN	ORPHA:79076
HP:0025085	Bloody diarrhea	22900	CARD8	OMIM:619079
HP:0025085	Bloody diarrhea	27178	IL37	OMIM:619398
HP:0025085	Bloody diarrhea	1355	COX15	OMIM:615119
HP:0025085	Bloody diarrhea	6499	SKIC2	OMIM:614602
HP:0025085	Bloody diarrhea	6499	SKIC2	ORPHA:84064
HP:0025085	Bloody diarrhea	5297	PI4KA	ORPHA:436252
HP:0025085	Bloody diarrhea	6868	ADAM17	OMIM:614328
HP:0025085	Bloody diarrhea	6868	ADAM17	ORPHA:294023
HP:0025085	Bloody diarrhea	6794	STK11	OMIM:175200
HP:0025085	Bloody diarrhea	1616	DAXX	ORPHA:100075
HP:0025085	Bloody diarrhea	546	ATRX	ORPHA:100075
HP:0025085	Bloody diarrhea	7040	TGFB1	OMIM:618213
HP:0025085	Bloody diarrhea	9652	SKIC3	ORPHA:84064
HP:0025085	Bloody diarrhea	1956	EGFR	ORPHA:294023
HP:0025088	Onychomadesis	3852	KRT5	OMIM:619594
HP:0025088	Onychomadesis	3107	HLA-C	OMIM:177900
HP:0025090	Abnormal large intestinal mucosa morphology	4072	EPCAM	ORPHA:92050
HP:0025090	Abnormal large intestinal mucosa morphology	105371045	PERCC1	ORPHA:92050
HP:0025090	Abnormal large intestinal mucosa morphology	1493	CTLA4	OMIM:616100
HP:0025092	Epidermal acanthosis	242	ALOX12B	OMIM:242100
HP:0025092	Epidermal acanthosis	59344	ALOXE3	OMIM:242100
HP:0025092	Epidermal acanthosis	126410	CYP4F22	OMIM:604777
HP:0025092	Epidermal acanthosis	7051	TGM1	OMIM:242300
HP:0025092	Epidermal acanthosis	7051	TGM1	ORPHA:100976
HP:0025092	Epidermal acanthosis	10804	GJB6	ORPHA:477
HP:0025092	Epidermal acanthosis	2706	GJB2	ORPHA:477
HP:0025092	Epidermal acanthosis	10519	CIB1	OMIM:618267
HP:0025092	Epidermal acanthosis	348938	NIPAL4	OMIM:612281
HP:0025092	Epidermal acanthosis	1041	CDSN	ORPHA:90368
HP:0025092	Epidermal acanthosis	121391	KRT74	ORPHA:90368
HP:0025092	Epidermal acanthosis	8710	SERPINB7	OMIM:615598
HP:0025092	Epidermal acanthosis	79755	ZNF750	OMIM:610227
HP:0025092	Epidermal acanthosis	56916	SMARCAD1	OMIM:129200
HP:0025092	Epidermal acanthosis	56916	SMARCAD1	OMIM:181600
HP:0025092	Epidermal acanthosis	79719	AAGAB	OMIM:148600
HP:0025092	Epidermal acanthosis	79719	AAGAB	ORPHA:79501
HP:0025092	Epidermal acanthosis	7373	COL14A1	ORPHA:79501
HP:0025092	Epidermal acanthosis	10999	SLC27A4	OMIM:608649
HP:0025092	Epidermal acanthosis	3848	KRT1	OMIM:113800
HP:0025092	Epidermal acanthosis	3848	KRT1	ORPHA:2199
HP:0025092	Epidermal acanthosis	3728	JUP	OMIM:601214
HP:0025092	Epidermal acanthosis	831	CAST	OMIM:616295
HP:0025092	Epidermal acanthosis	57152	SLURP1	ORPHA:87503
HP:0025092	Epidermal acanthosis	22861	NLRP1	OMIM:617388
HP:0025092	Epidermal acanthosis	22861	NLRP1	OMIM:615225
HP:0025092	Epidermal acanthosis	5167	ENPP1	OMIM:615522
HP:0025092	Epidermal acanthosis	51360	MBTPS2	OMIM:300918
HP:0025092	Epidermal acanthosis	207	AKT1	OMIM:176920
HP:0025092	Epidermal acanthosis	1825	DSC3	OMIM:613102
HP:0025092	Epidermal acanthosis	488	ATP2A2	OMIM:101900
HP:0025092	Epidermal acanthosis	488	ATP2A2	ORPHA:79151
HP:0025092	Epidermal acanthosis	3557	IL1RN	OMIM:612852
HP:0025092	Epidermal acanthosis	643418	LIPN	OMIM:613943
HP:0025092	Epidermal acanthosis	64065	PERP	OMIM:619208
HP:0025092	Epidermal acanthosis	9076	CLDN1	OMIM:607626
HP:0025092	Epidermal acanthosis	1956	EGFR	OMIM:616069
HP:0025092	Epidermal acanthosis	2707	GJB3	OMIM:133200
HP:0025092	Epidermal acanthosis	50814	NSDHL	OMIM:308050
HP:0025092	Epidermal acanthosis	79977	GRHL2	OMIM:616029
HP:0025092	Epidermal acanthosis	64834	ELOVL1	OMIM:618527
HP:0025092	Epidermal acanthosis	56983	POGLUT1	OMIM:615696
HP:0025092	Epidermal acanthosis	5271	SERPINB8	OMIM:617115
HP:0025092	Epidermal acanthosis	286887	KRT6C	OMIM:615735
HP:0025092	Epidermal acanthosis	3868	KRT16	ORPHA:2199
HP:0025092	Epidermal acanthosis	3857	KRT9	ORPHA:2199
HP:0025092	Epidermal acanthosis	26525	IL36RN	OMIM:614204
HP:0025092	Epidermal acanthosis	80326	WNT10A	OMIM:257980
HP:0025092	Epidermal acanthosis	1828	DSG1	OMIM:148700
HP:0025092	Epidermal acanthosis	1832	DSP	OMIM:612908
HP:0025092	Epidermal acanthosis	1475	CSTA	OMIM:607936
HP:0025092	Epidermal acanthosis	79092	CARD14	OMIM:602723
HP:0025092	Epidermal acanthosis	204219	CERS3	OMIM:615023
HP:0025092	Epidermal acanthosis	2697	GJA1	OMIM:617525
HP:0025092	Epidermal acanthosis	23086	EXPH5	OMIM:615028
HP:0025092	Epidermal acanthosis	3860	KRT13	OMIM:615785
HP:0025092	Epidermal acanthosis	2531	KDSR	OMIM:617526
HP:0025092	Epidermal acanthosis	4014	LORICRIN	ORPHA:79395
HP:0025097	Eyelid myoclonus	6095	RORA	OMIM:618060
HP:0025097	Eyelid myoclonus	3747	KCNC2	OMIM:619913
HP:0025097	Eyelid myoclonus	478	ATP1A3	OMIM:619606
HP:0025097	Eyelid myoclonus	427	ASAH1	ORPHA:2590
HP:0025097	Eyelid myoclonus	8398	PLA2G6	OMIM:612953
HP:0025097	Eyelid myoclonus	6096	RORB	OMIM:618357
HP:0025097	Eyelid myoclonus	6529	SLC6A1	OMIM:616421
HP:0025097	Eyelid myoclonus	1719	DHFR	OMIM:613839
HP:0025097	Eyelid myoclonus	2902	GRIN1	ORPHA:208447
HP:0025099	Dysgenesis of the thalamus	54820	NDE1	ORPHA:2177
HP:0002536	Abnormal cortical gyration	4750	NEK1	OMIM:263520
HP:0002536	Abnormal cortical gyration	26128	KIFBP	OMIM:609460
HP:0002536	Abnormal cortical gyration	26128	KIFBP	ORPHA:66629
HP:0002536	Abnormal cortical gyration	2290	FOXG1	OMIM:613454
HP:0002536	Abnormal cortical gyration	23417	MLYCD	OMIM:248360
HP:0002536	Abnormal cortical gyration	84942	WDR73	OMIM:251300
HP:0002536	Abnormal cortical gyration	84942	WDR73	ORPHA:2065
HP:0002536	Abnormal cortical gyration	8496	PPFIBP1	OMIM:620024
HP:0002536	Abnormal cortical gyration	50814	NSDHL	ORPHA:251383
HP:0002536	Abnormal cortical gyration	50814	NSDHL	OMIM:300831
HP:0002536	Abnormal cortical gyration	80232	WDR26	ORPHA:513456
HP:0002536	Abnormal cortical gyration	9342	SNAP29	ORPHA:66631
HP:0002536	Abnormal cortical gyration	9342	SNAP29	OMIM:609528
HP:0002536	Abnormal cortical gyration	5290	PIK3CA	ORPHA:99802
HP:0002536	Abnormal cortical gyration	10000	AKT3	ORPHA:99802
HP:0002536	Abnormal cortical gyration	3908	LAMA2	ORPHA:258
HP:0002536	Abnormal cortical gyration	1282	COL4A1	ORPHA:899
HP:0002536	Abnormal cortical gyration	23499	MACF1	ORPHA:572013
HP:0002536	Abnormal cortical gyration	23499	MACF1	OMIM:618325
HP:0002536	Abnormal cortical gyration	170302	ARX	ORPHA:452
HP:0002536	Abnormal cortical gyration	170302	ARX	OMIM:300215
HP:0002536	Abnormal cortical gyration	170302	ARX	ORPHA:1934
HP:0002536	Abnormal cortical gyration	284403	WDR62	OMIM:604317
HP:0002536	Abnormal cortical gyration	284403	WDR62	ORPHA:2512
HP:0002536	Abnormal cortical gyration	4784	NFIX	OMIM:602535
HP:0002536	Abnormal cortical gyration	4001	LMNB1	OMIM:619179
HP:0002536	Abnormal cortical gyration	56915	EXOSC5	OMIM:619576
HP:0002536	Abnormal cortical gyration	23522	KAT6B	OMIM:606170
HP:0002536	Abnormal cortical gyration	1778	DYNC1H1	OMIM:614563
HP:0002536	Abnormal cortical gyration	7436	VLDLR	OMIM:224050
HP:0002536	Abnormal cortical gyration	10716	TBR1	OMIM:606053
HP:0002536	Abnormal cortical gyration	9896	FIG4	ORPHA:3472
HP:0002536	Abnormal cortical gyration	9896	FIG4	OMIM:216340
HP:0002536	Abnormal cortical gyration	55697	VAC14	ORPHA:3472
HP:0002536	Abnormal cortical gyration	79600	TCTN1	OMIM:614173
HP:0002536	Abnormal cortical gyration	545	ATR	OMIM:210600
HP:0002536	Abnormal cortical gyration	8642	DCHS1	OMIM:601390
HP:0002536	Abnormal cortical gyration	55644	OSGEP	OMIM:617729
HP:0002536	Abnormal cortical gyration	55644	OSGEP	ORPHA:2065
HP:0002536	Abnormal cortical gyration	2313	FLI1	ORPHA:2308
HP:0002536	Abnormal cortical gyration	60	ACTB	OMIM:243310
HP:0002536	Abnormal cortical gyration	60	ACTB	ORPHA:2995
HP:0002536	Abnormal cortical gyration	71	ACTG1	OMIM:614583
HP:0002536	Abnormal cortical gyration	71	ACTG1	ORPHA:2995
HP:0002536	Abnormal cortical gyration	81689	ISCA1	OMIM:617613
HP:0002536	Abnormal cortical gyration	9508	ADAMTS3	ORPHA:2136
HP:0002536	Abnormal cortical gyration	147372	CCBE1	ORPHA:2136
HP:0002536	Abnormal cortical gyration	147372	CCBE1	OMIM:235510
HP:0002536	Abnormal cortical gyration	79633	FAT4	ORPHA:2136
HP:0002536	Abnormal cortical gyration	51002	TPRKB	OMIM:617731
HP:0002536	Abnormal cortical gyration	51002	TPRKB	ORPHA:2065
HP:0002536	Abnormal cortical gyration	57514	ARHGAP31	OMIM:100300
HP:0002536	Abnormal cortical gyration	5828	PEX2	OMIM:614866
HP:0002536	Abnormal cortical gyration	25914	RTTN	ORPHA:468631
HP:0002536	Abnormal cortical gyration	23545	ATP6V0A2	OMIM:219200
HP:0002536	Abnormal cortical gyration	23545	ATP6V0A2	ORPHA:357074
HP:0002536	Abnormal cortical gyration	1457	CSNK2A1	OMIM:617062
HP:0002536	Abnormal cortical gyration	5162	PDHB	ORPHA:255138
HP:0002536	Abnormal cortical gyration	1718	DHCR24	ORPHA:35107
HP:0002536	Abnormal cortical gyration	9326	ZNHIT3	OMIM:260565
HP:0002536	Abnormal cortical gyration	5192	PEX10	OMIM:614870
HP:0002536	Abnormal cortical gyration	84340	GFM2	OMIM:618397
HP:0002536	Abnormal cortical gyration	10319	LAMC3	OMIM:614115
HP:0002536	Abnormal cortical gyration	79867	TCTN2	OMIM:616654
HP:0002536	Abnormal cortical gyration	55704	CCDC88A	OMIM:617507
HP:0002536	Abnormal cortical gyration	5591	PRKDC	OMIM:615966
HP:0002536	Abnormal cortical gyration	100506658	OCLN	OMIM:251290
HP:0002536	Abnormal cortical gyration	5296	PIK3R2	OMIM:603387
HP:0002536	Abnormal cortical gyration	4677	NARS1	OMIM:619091
HP:0002536	Abnormal cortical gyration	523	ATP6V1A	ORPHA:357074
HP:0002536	Abnormal cortical gyration	529	ATP6V1E1	ORPHA:357074
HP:0002536	Abnormal cortical gyration	10463	SLC30A9	OMIM:617595
HP:0002536	Abnormal cortical gyration	23219	FBXO28	OMIM:619777
HP:0002536	Abnormal cortical gyration	55005	RMND1	OMIM:614922
HP:0002536	Abnormal cortical gyration	25782	RAB3GAP2	ORPHA:2510
HP:0002536	Abnormal cortical gyration	22931	RAB18	ORPHA:2510
HP:0002536	Abnormal cortical gyration	1376	CPT2	ORPHA:228308
HP:0002536	Abnormal cortical gyration	79087	ALG12	ORPHA:79324
HP:0002536	Abnormal cortical gyration	9276	COPB2	ORPHA:2512
HP:0002536	Abnormal cortical gyration	22995	CEP152	ORPHA:2512
HP:0002536	Abnormal cortical gyration	55262	TRAPPC14	ORPHA:2512
HP:0002536	Abnormal cortical gyration	163786	SASS6	ORPHA:2512
HP:0002536	Abnormal cortical gyration	29920	PYCR2	ORPHA:2512
HP:0002536	Abnormal cortical gyration	84879	MFSD2A	ORPHA:2512
HP:0002536	Abnormal cortical gyration	4176	MCM7	ORPHA:2512
HP:0002536	Abnormal cortical gyration	80254	CEP63	ORPHA:2512
HP:0002536	Abnormal cortical gyration	29081	METTL5	ORPHA:2512
HP:0002536	Abnormal cortical gyration	23310	NCAPD3	ORPHA:2512
HP:0002536	Abnormal cortical gyration	55755	CDK5RAP2	ORPHA:2512
HP:0002536	Abnormal cortical gyration	79648	MCPH1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	23141	ANKLE2	ORPHA:2512
HP:0002536	Abnormal cortical gyration	259266	ASPM	ORPHA:2512
HP:0002536	Abnormal cortical gyration	7109	TRAPPC10	ORPHA:2512
HP:0002536	Abnormal cortical gyration	1911	PHC1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	6884	TAF13	ORPHA:2512
HP:0002536	Abnormal cortical gyration	9662	CEP135	ORPHA:2512
HP:0002536	Abnormal cortical gyration	55835	CENPJ	ORPHA:2512
HP:0002536	Abnormal cortical gyration	57082	KNL1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	1021	CDK6	ORPHA:2512
HP:0002536	Abnormal cortical gyration	84978	FRMD5	OMIM:620094
HP:0002536	Abnormal cortical gyration	51075	TMX2	OMIM:618730
HP:0002536	Abnormal cortical gyration	1496	CTNNA2	OMIM:618174
HP:0002536	Abnormal cortical gyration	8738	CRADD	OMIM:614499
HP:0002536	Abnormal cortical gyration	85378	TUBGCP6	OMIM:251270
HP:0002536	Abnormal cortical gyration	10844	TUBGCP2	OMIM:618737
HP:0002536	Abnormal cortical gyration	55367	PIDD1	OMIM:619827
HP:0002536	Abnormal cortical gyration	57122	NUP107	ORPHA:2065
HP:0002536	Abnormal cortical gyration	10785	WDR4	ORPHA:2065
HP:0002536	Abnormal cortical gyration	55746	NUP133	ORPHA:2065
HP:0002536	Abnormal cortical gyration	112858	TP53RK	ORPHA:2065
HP:0002536	Abnormal cortical gyration	8270	LAGE3	ORPHA:2065
HP:0002536	Abnormal cortical gyration	6792	CDKL5	ORPHA:1934
HP:0002536	Abnormal cortical gyration	3736	KCNA1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	9091	PIGQ	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2775	GNAO1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	81603	TRIM8	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2902	GRIN1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	79751	SLC25A22	ORPHA:1934
HP:0002536	Abnormal cortical gyration	150094	SIK1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	8573	CASK	ORPHA:1934
HP:0002536	Abnormal cortical gyration	23312	DMXL2	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2917	GRM7	ORPHA:1934
HP:0002536	Abnormal cortical gyration	11284	PNKP	ORPHA:1934
HP:0002536	Abnormal cortical gyration	6326	SCN2A	ORPHA:1934
HP:0002536	Abnormal cortical gyration	51227	PIGP	ORPHA:1934
HP:0002536	Abnormal cortical gyration	6324	SCN1B	ORPHA:1934
HP:0002536	Abnormal cortical gyration	4761	NEUROD2	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2108	ETFA	OMIM:231680
HP:0002536	Abnormal cortical gyration	2109	ETFB	OMIM:231680
HP:0002536	Abnormal cortical gyration	2110	ETFDH	OMIM:231680
HP:0002536	Abnormal cortical gyration	348180	CTU2	OMIM:618142
HP:0002536	Abnormal cortical gyration	84162	BLTP1	OMIM:617822
HP:0002536	Abnormal cortical gyration	10297	APC2	OMIM:618677
HP:0002536	Abnormal cortical gyration	388015	RTL1	ORPHA:96334
HP:0002536	Abnormal cortical gyration	8788	DLK1	ORPHA:96334
HP:0002536	Abnormal cortical gyration	55384	MEG3	ORPHA:96334
HP:0002536	Abnormal cortical gyration	79068	FTO	OMIM:612938
HP:0002536	Abnormal cortical gyration	2271	FH	OMIM:606812
HP:0002536	Abnormal cortical gyration	3090	HIC1	ORPHA:531
HP:0002536	Abnormal cortical gyration	7531	YWHAE	ORPHA:531
HP:0002536	Abnormal cortical gyration	5194	PEX13	OMIM:614883
HP:0002536	Abnormal cortical gyration	8777	MPDZ	OMIM:615219
HP:0002536	Abnormal cortical gyration	412	STS	ORPHA:281090
HP:0002536	Abnormal cortical gyration	29968	PSAT1	ORPHA:284417
HP:0002536	Abnormal cortical gyration	29968	PSAT1	OMIM:616038
HP:0002536	Abnormal cortical gyration	26276	VPS33B	OMIM:208085
HP:0002536	Abnormal cortical gyration	7161	TP73	OMIM:619466
HP:0002536	Abnormal cortical gyration	63894	VIPAS39	OMIM:613404
HP:0002536	Abnormal cortical gyration	60386	SLC25A19	ORPHA:99742
HP:0002536	Abnormal cortical gyration	27183	VPS4A	OMIM:619273
HP:0002536	Abnormal cortical gyration	9488	PIGB	OMIM:618580
HP:0002536	Abnormal cortical gyration	29899	GPSM2	OMIM:604213
HP:0002536	Abnormal cortical gyration	8450	CUL4B	OMIM:300354
HP:0002536	Abnormal cortical gyration	1281	COL3A1	OMIM:618343
HP:0002536	Abnormal cortical gyration	10262	SF3B4	OMIM:154400
HP:0002536	Abnormal cortical gyration	894	CCND2	ORPHA:83473
HP:0002536	Abnormal cortical gyration	894	CCND2	OMIM:615938
HP:0002536	Abnormal cortical gyration	51807	TUBA8	ORPHA:250972
HP:0002536	Abnormal cortical gyration	6328	SCN3A	OMIM:617938
HP:0002536	Abnormal cortical gyration	2782	GNB1	ORPHA:488613
HP:0002536	Abnormal cortical gyration	2782	GNB1	OMIM:616973
HP:0002536	Abnormal cortical gyration	23322	RPGRIP1L	ORPHA:220497
HP:0002536	Abnormal cortical gyration	4867	NPHP1	ORPHA:220497
HP:0002536	Abnormal cortical gyration	65062	TMEM237	ORPHA:220497
HP:0002536	Abnormal cortical gyration	65062	TMEM237	ORPHA:475
HP:0002536	Abnormal cortical gyration	54931	TRMT10C	OMIM:616974
HP:0002536	Abnormal cortical gyration	79644	SRD5A3	OMIM:612379
HP:0002536	Abnormal cortical gyration	54806	AHI1	ORPHA:220493
HP:0002536	Abnormal cortical gyration	54806	AHI1	ORPHA:475
HP:0002536	Abnormal cortical gyration	56623	INPP5E	ORPHA:220493
HP:0002536	Abnormal cortical gyration	56623	INPP5E	ORPHA:475
HP:0002536	Abnormal cortical gyration	153241	CEP120	ORPHA:220493
HP:0002536	Abnormal cortical gyration	153241	CEP120	ORPHA:475
HP:0002536	Abnormal cortical gyration	54903	MKS1	ORPHA:220493
HP:0002536	Abnormal cortical gyration	54903	MKS1	ORPHA:475
HP:0002536	Abnormal cortical gyration	95681	CEP41	ORPHA:220493
HP:0002536	Abnormal cortical gyration	95681	CEP41	ORPHA:475
HP:0002536	Abnormal cortical gyration	27185	DISC1	ORPHA:171703
HP:0002536	Abnormal cortical gyration	8320	EOMES	ORPHA:171703
HP:0002536	Abnormal cortical gyration	5610	EIF2AK2	OMIM:618877
HP:0002536	Abnormal cortical gyration	55780	ERMARD	ORPHA:75857
HP:0002536	Abnormal cortical gyration	26153	KIF26A	OMIM:620156
HP:0002536	Abnormal cortical gyration	2067	ERCC1	OMIM:610758
HP:0002536	Abnormal cortical gyration	5189	PEX1	OMIM:214100
HP:0002536	Abnormal cortical gyration	5189	PEX1	ORPHA:912
HP:0002536	Abnormal cortical gyration	4131	MAP1B	OMIM:618918
HP:0002536	Abnormal cortical gyration	11274	USP18	OMIM:617397
HP:0002536	Abnormal cortical gyration	9361	LONP1	ORPHA:79243
HP:0002536	Abnormal cortical gyration	5160	PDHA1	ORPHA:79243
HP:0002536	Abnormal cortical gyration	8131	NPRL3	ORPHA:98820
HP:0002536	Abnormal cortical gyration	10641	NPRL2	ORPHA:98820
HP:0002536	Abnormal cortical gyration	9681	DEPDC5	ORPHA:98820
HP:0002536	Abnormal cortical gyration	80311	KLHL15	OMIM:300982
HP:0002536	Abnormal cortical gyration	9401	RECQL4	OMIM:218600
HP:0002536	Abnormal cortical gyration	9839	ZEB2	ORPHA:261552
HP:0002536	Abnormal cortical gyration	9839	ZEB2	ORPHA:261537
HP:0002536	Abnormal cortical gyration	4330	MN1	OMIM:618774
HP:0002536	Abnormal cortical gyration	23327	NEDD4L	OMIM:617201
HP:0002536	Abnormal cortical gyration	1822	ATN1	OMIM:618494
HP:0002536	Abnormal cortical gyration	26005	C2CD3	OMIM:615948
HP:0002536	Abnormal cortical gyration	57572	DOCK6	OMIM:614219
HP:0002536	Abnormal cortical gyration	79848	CSPP1	ORPHA:475
HP:0002536	Abnormal cortical gyration	51684	SUFU	ORPHA:475
HP:0002536	Abnormal cortical gyration	51684	SUFU	OMIM:617757
HP:0002536	Abnormal cortical gyration	65250	CPLANE1	ORPHA:475
HP:0002536	Abnormal cortical gyration	65250	CPLANE1	OMIM:277170
HP:0002536	Abnormal cortical gyration	91147	TMEM67	ORPHA:475
HP:0002536	Abnormal cortical gyration	200894	ARL13B	ORPHA:475
HP:0002536	Abnormal cortical gyration	9731	CEP104	ORPHA:475
HP:0002536	Abnormal cortical gyration	23247	KATNIP	ORPHA:475
HP:0002536	Abnormal cortical gyration	219854	TMEM218	ORPHA:475
HP:0002536	Abnormal cortical gyration	9786	KIAA0586	ORPHA:475
HP:0002536	Abnormal cortical gyration	9786	KIAA0586	OMIM:616546
HP:0002536	Abnormal cortical gyration	80776	B9D2	ORPHA:475
HP:0002536	Abnormal cortical gyration	10464	PIBF1	ORPHA:475
HP:0002536	Abnormal cortical gyration	80210	ARMC9	ORPHA:475
HP:0002536	Abnormal cortical gyration	80210	ARMC9	OMIM:617622
HP:0002536	Abnormal cortical gyration	23116	TOGARAM1	ORPHA:475
HP:0002536	Abnormal cortical gyration	25776	CBY1	ORPHA:475
HP:0002536	Abnormal cortical gyration	27077	B9D1	ORPHA:475
HP:0002536	Abnormal cortical gyration	403	ARL3	ORPHA:475
HP:0002536	Abnormal cortical gyration	4204	MECP2	OMIM:300673
HP:0002536	Abnormal cortical gyration	23512	SUZ12	OMIM:618786
HP:0002536	Abnormal cortical gyration	6608	SMO	OMIM:601707
HP:0002536	Abnormal cortical gyration	4659	PPP1R12A	OMIM:618820
HP:0002536	Abnormal cortical gyration	526	ATP6V1B2	ORPHA:79500
HP:0002536	Abnormal cortical gyration	57465	TBC1D24	ORPHA:79500
HP:0002536	Abnormal cortical gyration	80781	COL18A1	OMIM:267750
HP:0002536	Abnormal cortical gyration	2222	FDFT1	OMIM:618156
HP:0002536	Abnormal cortical gyration	3800	KIF5C	OMIM:615282
HP:0002536	Abnormal cortical gyration	55640	FLVCR2	OMIM:225790
HP:0002536	Abnormal cortical gyration	79143	MBOAT7	OMIM:617188
HP:0002536	Abnormal cortical gyration	55670	PEX26	OMIM:614872
HP:0002536	Abnormal cortical gyration	55670	PEX26	ORPHA:912
HP:0002536	Abnormal cortical gyration	7284	TUFM	OMIM:610678
HP:0002536	Abnormal cortical gyration	11128	POLR3A	ORPHA:3455
HP:0002536	Abnormal cortical gyration	4123	MAN2C1	OMIM:619775
HP:0002536	Abnormal cortical gyration	5879	RAC1	OMIM:617751
HP:0002536	Abnormal cortical gyration	5879	RAC1	ORPHA:500159
HP:0002536	Abnormal cortical gyration	6651	SON	ORPHA:500150
HP:0002536	Abnormal cortical gyration	200205	IBA57	OMIM:615330
HP:0002536	Abnormal cortical gyration	1284	COL4A2	OMIM:614483
HP:0002536	Abnormal cortical gyration	5195	PEX14	OMIM:614887
HP:0002536	Abnormal cortical gyration	5195	PEX14	ORPHA:912
HP:0002536	Abnormal cortical gyration	3295	HSD17B4	OMIM:261515
HP:0002536	Abnormal cortical gyration	8295	TRRAP	OMIM:618454
HP:0002536	Abnormal cortical gyration	8884	SLC5A6	OMIM:618973
HP:0002536	Abnormal cortical gyration	5728	PTEN	ORPHA:65285
HP:0002536	Abnormal cortical gyration	57647	DHX37	OMIM:618731
HP:0002536	Abnormal cortical gyration	10243	GPHN	OMIM:615501
HP:0002536	Abnormal cortical gyration	80199	FUZ	ORPHA:1136
HP:0002536	Abnormal cortical gyration	5824	PEX19	ORPHA:912
HP:0002536	Abnormal cortical gyration	8504	PEX3	ORPHA:912
HP:0002536	Abnormal cortical gyration	8799	PEX11B	ORPHA:912
HP:0002536	Abnormal cortical gyration	9409	PEX16	ORPHA:912
HP:0002536	Abnormal cortical gyration	5190	PEX6	ORPHA:912
HP:0002536	Abnormal cortical gyration	5830	PEX5	ORPHA:912
HP:0002536	Abnormal cortical gyration	5193	PEX12	ORPHA:912
HP:0002536	Abnormal cortical gyration	7490	WT1	OMIM:106210
HP:0002536	Abnormal cortical gyration	5080	PAX6	OMIM:106210
HP:0002536	Abnormal cortical gyration	168667	BMPER	OMIM:608022
HP:0002536	Abnormal cortical gyration	8239	USP9X	ORPHA:480880
HP:0002536	Abnormal cortical gyration	8239	USP9X	OMIM:300968
HP:0002536	Abnormal cortical gyration	51008	ASCC1	OMIM:616867
HP:0002536	Abnormal cortical gyration	5457	POU4F1	ORPHA:314647
HP:0002536	Abnormal cortical gyration	23261	CAMTA1	ORPHA:314647
HP:0002536	Abnormal cortical gyration	219844	HYLS1	OMIM:236680
HP:0002536	Abnormal cortical gyration	80144	FRAS1	OMIM:219000
HP:0002536	Abnormal cortical gyration	57511	COG6	OMIM:614576
HP:0002536	Abnormal cortical gyration	283989	TSEN54	ORPHA:2524
HP:0002536	Abnormal cortical gyration	116461	TSEN15	ORPHA:2524
HP:0002536	Abnormal cortical gyration	79042	TSEN34	ORPHA:2524
HP:0002536	Abnormal cortical gyration	80746	TSEN2	ORPHA:2524
HP:0002536	Abnormal cortical gyration	51091	SEPSECS	ORPHA:2524
HP:0002536	Abnormal cortical gyration	9373	PLAA	ORPHA:521426
HP:0002536	Abnormal cortical gyration	9373	PLAA	OMIM:617527
HP:0002536	Abnormal cortical gyration	8481	OFD1	OMIM:311200
HP:0002536	Abnormal cortical gyration	26227	PHGDH	ORPHA:79351
HP:0002536	Abnormal cortical gyration	6311	ATXN2	ORPHA:98756
HP:0002536	Abnormal cortical gyration	79718	TBL1XR1	ORPHA:487825
HP:0002536	Abnormal cortical gyration	23229	ARHGEF9	OMIM:300607
HP:0002536	Abnormal cortical gyration	347733	TUBB2B	OMIM:610031
HP:0002536	Abnormal cortical gyration	2879	GPX4	OMIM:250220
HP:0002536	Abnormal cortical gyration	5354	PLP1	ORPHA:280210
HP:0002536	Abnormal cortical gyration	29925	GMPPB	ORPHA:370959
HP:0002536	Abnormal cortical gyration	55624	POMGNT1	ORPHA:370959
HP:0002536	Abnormal cortical gyration	55624	POMGNT1	OMIM:253280
HP:0002536	Abnormal cortical gyration	148789	B3GALNT2	OMIM:615181
HP:0002536	Abnormal cortical gyration	10329	RXYLT1	OMIM:615041
HP:0002536	Abnormal cortical gyration	11041	B4GAT1	OMIM:615287
HP:0002536	Abnormal cortical gyration	84892	POMGNT2	OMIM:614830
HP:0002536	Abnormal cortical gyration	23265	EXOC7	OMIM:619072
HP:0002536	Abnormal cortical gyration	84065	TMEM222	OMIM:619470
HP:0002536	Abnormal cortical gyration	10128	LRPPRC	OMIM:220111
HP:0002536	Abnormal cortical gyration	10617	STAMBP	OMIM:614261
HP:0002536	Abnormal cortical gyration	55627	SMPD4	OMIM:618622
HP:0002536	Abnormal cortical gyration	116115	ZNF526	OMIM:619877
HP:0002536	Abnormal cortical gyration	8405	SPOP	OMIM:618828
HP:0002536	Abnormal cortical gyration	10733	PLK4	OMIM:616171
HP:0002536	Abnormal cortical gyration	1062	CENPE	OMIM:616051
HP:0002536	Abnormal cortical gyration	51124	IER3IP1	OMIM:614231
HP:0002536	Abnormal cortical gyration	5859	QARS1	OMIM:615760
HP:0002536	Abnormal cortical gyration	22983	MAST1	OMIM:618273
HP:0002536	Abnormal cortical gyration	10978	CLP1	ORPHA:411493
HP:0002536	Abnormal cortical gyration	10978	CLP1	OMIM:615803
HP:0002536	Abnormal cortical gyration	51741	WWOX	OMIM:616211
HP:0002536	Abnormal cortical gyration	9442	MED27	OMIM:619286
HP:0002536	Abnormal cortical gyration	91875	TTC5	OMIM:619244
HP:0002536	Abnormal cortical gyration	387787	LIPT2	OMIM:617668
HP:0002536	Abnormal cortical gyration	10293	TRAIP	OMIM:616777
HP:0002536	Abnormal cortical gyration	7280	TUBB2A	OMIM:615763
HP:0002536	Abnormal cortical gyration	51112	TRAPPC12	OMIM:617669
HP:0002536	Abnormal cortical gyration	79693	YRDC	OMIM:619609
HP:0002536	Abnormal cortical gyration	63925	ZNF335	OMIM:615095
HP:0002536	Abnormal cortical gyration	63925	ZNF335	ORPHA:329228
HP:0002536	Abnormal cortical gyration	7518	XRCC4	OMIM:616541
HP:0002536	Abnormal cortical gyration	440	ASNS	OMIM:615574
HP:0002536	Abnormal cortical gyration	84823	LMNB2	OMIM:616540
HP:0002536	Abnormal cortical gyration	84823	LMNB2	OMIM:619180
HP:0002536	Abnormal cortical gyration	6597	SMARCA4	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6598	SMARCB1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6659	SOX4	ORPHA:1465
HP:0002536	Abnormal cortical gyration	8289	ARID1A	ORPHA:1465
HP:0002536	Abnormal cortical gyration	5977	DPF2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6601	SMARCC2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6602	SMARCD1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	57492	ARID1B	ORPHA:1465
HP:0002536	Abnormal cortical gyration	196528	ARID2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6605	SMARCE1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6664	SOX11	ORPHA:1465
HP:0002536	Abnormal cortical gyration	267010	RNU12	OMIM:620208
HP:0002536	Abnormal cortical gyration	2744	GLS	OMIM:618328
HP:0002536	Abnormal cortical gyration	10015	PDCD6IP	OMIM:620047
HP:0002536	Abnormal cortical gyration	84081	NSRP1	OMIM:620001
HP:0002536	Abnormal cortical gyration	1781	DYNC1I2	OMIM:618492
HP:0002536	Abnormal cortical gyration	51645	PPIL1	OMIM:619301
HP:0002536	Abnormal cortical gyration	51362	CDC40	OMIM:619302
HP:0002536	Abnormal cortical gyration	3832	KIF11	OMIM:152950
HP:0002536	Abnormal cortical gyration	4700	NDUFA6	OMIM:618253
HP:0002536	Abnormal cortical gyration	51053	GMNN	OMIM:616835
HP:0002536	Abnormal cortical gyration	29980	DONSON	OMIM:617604
HP:0002536	Abnormal cortical gyration	29980	DONSON	OMIM:251230
HP:0002536	Abnormal cortical gyration	27245	AHDC1	OMIM:615829
HP:0002536	Abnormal cortical gyration	23299	BICD2	OMIM:618291
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:177904
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:177901
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:98754
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:177904
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:177901
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:98754
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:177904
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:177901
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:98754
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:177904
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:177901
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:98754
HP:0002536	Abnormal cortical gyration	23162	MAPK8IP3	OMIM:618443
HP:0002536	Abnormal cortical gyration	22930	RAB3GAP1	OMIM:600118
HP:0002536	Abnormal cortical gyration	10367	MICU1	OMIM:615673
HP:0002536	Abnormal cortical gyration	6472	SHMT2	OMIM:619121
HP:0002536	Abnormal cortical gyration	28514	DLL1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	2253	FGF8	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6496	SIX3	ORPHA:280195
HP:0002536	Abnormal cortical gyration	7050	TGIF1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	4838	NODAL	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6469	SHH	ORPHA:280195
HP:0002536	Abnormal cortical gyration	7546	ZIC2	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6491	STIL	ORPHA:280195
HP:0002536	Abnormal cortical gyration	2619	GAS1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	84976	DISP1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	2736	GLI2	ORPHA:280195
HP:0002536	Abnormal cortical gyration	8928	FOXH1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	5727	PTCH1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	50937	CDON	ORPHA:280195
HP:0002536	Abnormal cortical gyration	477	ATP1A2	OMIM:619605
HP:0002536	Abnormal cortical gyration	478	ATP1A3	OMIM:619606
HP:0002536	Abnormal cortical gyration	128637	TBC1D20	OMIM:615663
HP:0002536	Abnormal cortical gyration	2475	MTOR	OMIM:616638
HP:0002536	Abnormal cortical gyration	54187	NANS	OMIM:610442
HP:0002536	Abnormal cortical gyration	9289	ADGRG1	ORPHA:98889
HP:0002536	Abnormal cortical gyration	5297	PI4KA	ORPHA:98889
HP:0002536	Abnormal cortical gyration	27286	SRPX2	ORPHA:98889
HP:0002536	Abnormal cortical gyration	5048	PAFAH1B1	ORPHA:95232
HP:0002536	Abnormal cortical gyration	25942	SIN3A	OMIM:613406
HP:0002536	Abnormal cortical gyration	1641	DCX	OMIM:300067
HP:0002536	Abnormal cortical gyration	1641	DCX	ORPHA:2148
HP:0002536	Abnormal cortical gyration	387119	CEP85L	OMIM:618873
HP:0002536	Abnormal cortical gyration	1020	CDK5	OMIM:616342
HP:0002536	Abnormal cortical gyration	160418	TMTC3	OMIM:617255
HP:0002536	Abnormal cortical gyration	79147	FKRP	OMIM:613153
HP:0002536	Abnormal cortical gyration	79147	FKRP	OMIM:236670
HP:0002536	Abnormal cortical gyration	7283	TUBG1	OMIM:615412
HP:0002536	Abnormal cortical gyration	729920	CRPPA	OMIM:614643
HP:0002536	Abnormal cortical gyration	3796	KIF2A	OMIM:615411
HP:0002536	Abnormal cortical gyration	1605	DAG1	OMIM:616538
HP:0002536	Abnormal cortical gyration	1605	DAG1	ORPHA:370997
HP:0002536	Abnormal cortical gyration	84197	POMK	OMIM:615249
HP:0002536	Abnormal cortical gyration	2218	FKTN	OMIM:253800
HP:0002536	Abnormal cortical gyration	2218	FKTN	OMIM:236670
HP:0002536	Abnormal cortical gyration	29954	POMT2	OMIM:236670
HP:0002536	Abnormal cortical gyration	9215	LARGE1	OMIM:236670
HP:0002536	Abnormal cortical gyration	10585	POMT1	OMIM:236670
HP:0002536	Abnormal cortical gyration	7846	TUBA1A	ORPHA:467166
HP:0002536	Abnormal cortical gyration	10381	TUBB3	ORPHA:467166
HP:0002536	Abnormal cortical gyration	3912	LAMB1	ORPHA:352682
HP:0002536	Abnormal cortical gyration	2009	EML1	OMIM:600348
HP:0002536	Abnormal cortical gyration	203068	TUBB	OMIM:615771
HP:0002536	Abnormal cortical gyration	22858	CILK1	OMIM:612651
HP:0002536	Abnormal cortical gyration	4953	ODC1	OMIM:619075
HP:0002536	Abnormal cortical gyration	10524	KAT5	OMIM:619103
HP:0002536	Abnormal cortical gyration	11113	CIT	OMIM:617090
HP:0002536	Abnormal cortical gyration	100151683	RNU4ATAC	OMIM:210710
HP:0002536	Abnormal cortical gyration	9928	KIF14	OMIM:617914
HP:0002536	Abnormal cortical gyration	10300	KATNB1	OMIM:616212
HP:0002536	Abnormal cortical gyration	10300	KATNB1	ORPHA:89844
HP:0002536	Abnormal cortical gyration	5649	RELN	ORPHA:89844
HP:0002536	Abnormal cortical gyration	54820	NDE1	ORPHA:89844
HP:0010829	Impaired temperature sensation	6638	SNRPN	ORPHA:177904
HP:0010829	Impaired temperature sensation	6638	SNRPN	ORPHA:177901
HP:0010829	Impaired temperature sensation	6638	SNRPN	ORPHA:98754
HP:0010829	Impaired temperature sensation	4692	NDN	ORPHA:177904
HP:0010829	Impaired temperature sensation	4692	NDN	ORPHA:177901
HP:0010829	Impaired temperature sensation	4692	NDN	ORPHA:98754
HP:0010829	Impaired temperature sensation	54551	MAGEL2	ORPHA:177904
HP:0010829	Impaired temperature sensation	54551	MAGEL2	ORPHA:177901
HP:0010829	Impaired temperature sensation	54551	MAGEL2	ORPHA:398069
HP:0010829	Impaired temperature sensation	54551	MAGEL2	ORPHA:98754
HP:0010829	Impaired temperature sensation	4948	OCA2	ORPHA:177904
HP:0010829	Impaired temperature sensation	4948	OCA2	ORPHA:177901
HP:0010829	Impaired temperature sensation	4948	OCA2	ORPHA:98754
HP:0010829	Impaired temperature sensation	182	JAG1	OMIM:619574
HP:0010829	Impaired temperature sensation	85446	ZFHX2	OMIM:147430
HP:0010829	Impaired temperature sensation	4803	NGF	ORPHA:64752
HP:0010829	Impaired temperature sensation	4803	NGF	OMIM:608654
HP:0010829	Impaired temperature sensation	4914	NTRK1	ORPHA:64752
HP:0010829	Impaired temperature sensation	4914	NTRK1	ORPHA:642
HP:0010829	Impaired temperature sensation	4010	LMX1B	ORPHA:2614
HP:0010829	Impaired temperature sensation	59335	PRDM12	OMIM:616488
HP:0010829	Impaired temperature sensation	19	ABCA1	OMIM:205400
HP:0010829	Impaired temperature sensation	19	ABCA1	ORPHA:31150
HP:0010829	Impaired temperature sensation	3868	KRT16	ORPHA:2199
HP:0010829	Impaired temperature sensation	3857	KRT9	ORPHA:2199
HP:0010829	Impaired temperature sensation	3848	KRT1	ORPHA:2199
HP:0010829	Impaired temperature sensation	3248	HPGD	ORPHA:2796
HP:0010829	Impaired temperature sensation	6578	SLCO2A1	ORPHA:2796
HP:0010829	Impaired temperature sensation	773	CACNA1A	ORPHA:569
HP:0010829	Impaired temperature sensation	112476	PRRT2	ORPHA:569
HP:0010829	Impaired temperature sensation	6323	SCN1A	ORPHA:569
HP:0010829	Impaired temperature sensation	477	ATP1A2	ORPHA:569
HP:0010829	Impaired temperature sensation	81790	RNF170	OMIM:619686
HP:0010829	Impaired temperature sensation	3074	HEXB	OMIM:268800
HP:0010829	Impaired temperature sensation	6335	SCN9A	OMIM:243000
HP:0010829	Impaired temperature sensation	7051	TGM1	ORPHA:100976
HP:0010829	Impaired temperature sensation	6492	SIM1	ORPHA:398079
HP:0010829	Impaired temperature sensation	5376	PMP22	ORPHA:90658
HP:0010829	Impaired temperature sensation	9927	MFN2	ORPHA:99947
HP:0010829	Impaired temperature sensation	165	AEBP1	ORPHA:536532
HP:0010829	Impaired temperature sensation	3315	HSPB1	ORPHA:99940
HP:0010829	Impaired temperature sensation	10558	SPTLC1	ORPHA:36386
HP:0010829	Impaired temperature sensation	25923	ATL3	ORPHA:36386
HP:0010829	Impaired temperature sensation	9517	SPTLC2	ORPHA:36386
HP:0010829	Impaired temperature sensation	51062	ATL1	ORPHA:36386
HP:0006904	Late-onset spinocerebellar degeneration	2729	GCLC	OMIM:230450
HP:0001256	Intellectual disability, mild	10749	KIF1C	ORPHA:397946
HP:0001256	Intellectual disability, mild	85465	SELENOI	ORPHA:506353
HP:0001256	Intellectual disability, mild	85465	SELENOI	OMIM:618768
HP:0001256	Intellectual disability, mild	7528	YY1	ORPHA:506358
HP:0001256	Intellectual disability, mild	29899	GPSM2	OMIM:604213
HP:0001256	Intellectual disability, mild	11253	MAN1B1	ORPHA:397941
HP:0001256	Intellectual disability, mild	55703	POLR3B	OMIM:614381
HP:0001256	Intellectual disability, mild	51256	TBC1D7	OMIM:248000
HP:0001256	Intellectual disability, mild	3094	HINT1	ORPHA:324442
HP:0001256	Intellectual disability, mild	29925	GMPPB	OMIM:615352
HP:0001256	Intellectual disability, mild	29925	GMPPB	ORPHA:370959
HP:0001256	Intellectual disability, mild	1161	ERCC8	ORPHA:90324
HP:0001256	Intellectual disability, mild	2074	ERCC6	ORPHA:90324
HP:0001256	Intellectual disability, mild	7021	TFAP2B	OMIM:169100
HP:0001256	Intellectual disability, mild	26040	SETBP1	ORPHA:436151
HP:0001256	Intellectual disability, mild	1788	DNMT3A	ORPHA:404443
HP:0001256	Intellectual disability, mild	5457	POU4F1	ORPHA:314647
HP:0001256	Intellectual disability, mild	23261	CAMTA1	ORPHA:314647
HP:0001256	Intellectual disability, mild	23261	CAMTA1	OMIM:614756
HP:0001256	Intellectual disability, mild	10084	PQBP1	ORPHA:93950
HP:0001256	Intellectual disability, mild	10084	PQBP1	ORPHA:93945
HP:0001256	Intellectual disability, mild	4125	MAN2B1	ORPHA:309282
HP:0001256	Intellectual disability, mild	4125	MAN2B1	ORPHA:309288
HP:0001256	Intellectual disability, mild	4522	MTHFD1	OMIM:617780
HP:0001256	Intellectual disability, mild	2737	GLI3	ORPHA:380
HP:0001256	Intellectual disability, mild	2737	GLI3	OMIM:175700
HP:0001256	Intellectual disability, mild	5917	RARS1	ORPHA:438114
HP:0001256	Intellectual disability, mild	5917	RARS1	OMIM:616140
HP:0001256	Intellectual disability, mild	8309	ACOX2	OMIM:617308
HP:0001256	Intellectual disability, mild	6595	SMARCA2	ORPHA:2728
HP:0001256	Intellectual disability, mild	2132	EXT2	ORPHA:466926
HP:0001256	Intellectual disability, mild	57156	TMEM63C	OMIM:619966
HP:0001256	Intellectual disability, mild	1476	CSTB	OMIM:254800
HP:0001256	Intellectual disability, mild	3764	KCNJ8	ORPHA:1517
HP:0001256	Intellectual disability, mild	10060	ABCC9	ORPHA:1517
HP:0001256	Intellectual disability, mild	10060	ABCC9	OMIM:239850
HP:0001256	Intellectual disability, mild	7086	TKT	ORPHA:488618
HP:0001256	Intellectual disability, mild	488	ATP2A2	OMIM:124200
HP:0001256	Intellectual disability, mild	90	ACVR1	OMIM:135100
HP:0001256	Intellectual disability, mild	84572	GNPTG	OMIM:252605
HP:0001256	Intellectual disability, mild	54	ACP5	OMIM:607944
HP:0001256	Intellectual disability, mild	80153	EDC3	OMIM:616460
HP:0001256	Intellectual disability, mild	284058	KANSL1	ORPHA:363958
HP:0001256	Intellectual disability, mild	284058	KANSL1	ORPHA:363965
HP:0001256	Intellectual disability, mild	55154	MSTO1	OMIM:617675
HP:0001256	Intellectual disability, mild	55154	MSTO1	ORPHA:502423
HP:0001256	Intellectual disability, mild	6884	TAF13	OMIM:617432
HP:0001256	Intellectual disability, mild	10939	AFG3L2	ORPHA:313772
HP:0001256	Intellectual disability, mild	2626	GATA4	ORPHA:251071
HP:0001256	Intellectual disability, mild	7020	TFAP2A	OMIM:113620
HP:0001256	Intellectual disability, mild	1605	DAG1	ORPHA:280333
HP:0001256	Intellectual disability, mild	833	CARS1	OMIM:618891
HP:0001256	Intellectual disability, mild	80208	SPG11	ORPHA:2822
HP:0001256	Intellectual disability, mild	200734	SPRED2	OMIM:619745
HP:0001256	Intellectual disability, mild	79731	NARS2	OMIM:616239
HP:0001256	Intellectual disability, mild	2316	FLNA	ORPHA:90650
HP:0001256	Intellectual disability, mild	2316	FLNA	OMIM:311300
HP:0001256	Intellectual disability, mild	2316	FLNA	OMIM:300049
HP:0001256	Intellectual disability, mild	5192	PEX10	ORPHA:247815
HP:0001256	Intellectual disability, mild	81794	ADAMTS10	OMIM:277600
HP:0001256	Intellectual disability, mild	81794	ADAMTS10	ORPHA:3449
HP:0001256	Intellectual disability, mild	63895	PIEZO2	OMIM:114300
HP:0001256	Intellectual disability, mild	55280	CWF19L1	OMIM:616127
HP:0001256	Intellectual disability, mild	79633	FAT4	OMIM:616006
HP:0001256	Intellectual disability, mild	54902	TTC19	OMIM:615157
HP:0001256	Intellectual disability, mild	5354	PLP1	ORPHA:280219
HP:0001256	Intellectual disability, mild	5354	PLP1	OMIM:312920
HP:0001256	Intellectual disability, mild	56052	ALG1	ORPHA:79327
HP:0001256	Intellectual disability, mild	10908	PNPLA6	OMIM:215470
HP:0001256	Intellectual disability, mild	10021	HCN4	OMIM:619521
HP:0001256	Intellectual disability, mild	1615	DARS1	OMIM:615281
HP:0001256	Intellectual disability, mild	7750	ZMYM2	OMIM:619522
HP:0001256	Intellectual disability, mild	8733	GPAA1	ORPHA:529665
HP:0001256	Intellectual disability, mild	27086	FOXP1	ORPHA:391372
HP:0001256	Intellectual disability, mild	6942	TCF20	OMIM:618430
HP:0001256	Intellectual disability, mild	2720	GLB1	OMIM:230650
HP:0001256	Intellectual disability, mild	9158	FIBP	OMIM:617107
HP:0001256	Intellectual disability, mild	641	BLM	OMIM:210900
HP:0001256	Intellectual disability, mild	2263	FGFR2	ORPHA:168624
HP:0001256	Intellectual disability, mild	10531	PITRM1	OMIM:619405
HP:0001256	Intellectual disability, mild	57492	ARID1B	ORPHA:251056
HP:0001256	Intellectual disability, mild	10743	RAI1	ORPHA:1713
HP:0001256	Intellectual disability, mild	38	ACAT1	ORPHA:134
HP:0001256	Intellectual disability, mild	51062	ATL1	OMIM:182600
HP:0001256	Intellectual disability, mild	51322	WAC	ORPHA:466950
HP:0001256	Intellectual disability, mild	2072	ERCC4	OMIM:610965
HP:0001256	Intellectual disability, mild	178	AGL	ORPHA:366
HP:0001256	Intellectual disability, mild	2742	GLRA2	OMIM:301076
HP:0001256	Intellectual disability, mild	25970	SH2B1	ORPHA:261197
HP:0001256	Intellectual disability, mild	9742	IFT140	OMIM:266920
HP:0001256	Intellectual disability, mild	5111	PCNA	ORPHA:438134
HP:0001256	Intellectual disability, mild	60529	ALX4	ORPHA:228390
HP:0001256	Intellectual disability, mild	2583	B4GALNT1	OMIM:609195
HP:0001256	Intellectual disability, mild	3242	HPD	OMIM:276710
HP:0001256	Intellectual disability, mild	3242	HPD	OMIM:140350
HP:0001256	Intellectual disability, mild	8905	AP1S2	OMIM:304340
HP:0001256	Intellectual disability, mild	2902	GRIN1	ORPHA:208447
HP:0001256	Intellectual disability, mild	54808	DYM	ORPHA:239
HP:0001256	Intellectual disability, mild	3479	IGF1	ORPHA:73272
HP:0001256	Intellectual disability, mild	57526	PCDH19	ORPHA:101039
HP:0001256	Intellectual disability, mild	23111	SPART	OMIM:275900
HP:0001256	Intellectual disability, mild	3155	HMGCL	ORPHA:20
HP:0001256	Intellectual disability, mild	388015	RTL1	ORPHA:254534
HP:0001256	Intellectual disability, mild	8788	DLK1	ORPHA:254534
HP:0001256	Intellectual disability, mild	55384	MEG3	ORPHA:254534
HP:0001256	Intellectual disability, mild	10466	COG5	ORPHA:263487
HP:0001256	Intellectual disability, mild	1859	DYRK1A	ORPHA:268261
HP:0001256	Intellectual disability, mild	6885	MAP3K7	OMIM:617137
HP:0001256	Intellectual disability, mild	1756	DMD	OMIM:310200
HP:0001256	Intellectual disability, mild	9256	TSPOAP1	ORPHA:101150
HP:0001256	Intellectual disability, mild	7054	TH	ORPHA:101150
HP:0001256	Intellectual disability, mild	170302	ARX	ORPHA:94083
HP:0001256	Intellectual disability, mild	4568	MT-TL2	ORPHA:663
HP:0001256	Intellectual disability, mild	4567	MT-TL1	ORPHA:663
HP:0001256	Intellectual disability, mild	4570	MT-TN	ORPHA:663
HP:0001256	Intellectual disability, mild	4574	MT-TS1	ORPHA:663
HP:0001256	Intellectual disability, mild	6792	CDKL5	ORPHA:3095
HP:0001256	Intellectual disability, mild	22854	NTNG1	ORPHA:3095
HP:0001256	Intellectual disability, mild	9568	GABBR2	ORPHA:3095
HP:0001256	Intellectual disability, mild	4204	MECP2	ORPHA:3095
HP:0001256	Intellectual disability, mild	4204	MECP2	OMIM:300055
HP:0001256	Intellectual disability, mild	8243	SMC1A	ORPHA:3095
HP:0001256	Intellectual disability, mild	2972	BRF1	ORPHA:444072
HP:0001256	Intellectual disability, mild	23102	TBC1D2B	OMIM:619323
HP:0001256	Intellectual disability, mild	23102	TBC1D2B	ORPHA:397973
HP:0001256	Intellectual disability, mild	56521	DNAJC12	OMIM:617384
HP:0001256	Intellectual disability, mild	27286	SRPX2	OMIM:300643
HP:0001256	Intellectual disability, mild	100151683	RNU4ATAC	OMIM:226960
HP:0001256	Intellectual disability, mild	100151683	RNU4ATAC	OMIM:616651
HP:0001256	Intellectual disability, mild	3714	JAG2	OMIM:619566
HP:0001256	Intellectual disability, mild	51119	SBDS	OMIM:260400
HP:0001256	Intellectual disability, mild	134218	DNAJC21	OMIM:260400
HP:0001256	Intellectual disability, mild	6729	SRP54	OMIM:260400
HP:0001256	Intellectual disability, mild	4041	LRP5	OMIM:259770
HP:0001256	Intellectual disability, mild	4041	LRP5	ORPHA:891
HP:0001256	Intellectual disability, mild	8888	MCM3AP	OMIM:618124
HP:0001256	Intellectual disability, mild	51473	DCDC2	OMIM:617394
HP:0001256	Intellectual disability, mild	537	ATP6AP1	OMIM:300972
HP:0001256	Intellectual disability, mild	4998	ORC1	OMIM:224690
HP:0001256	Intellectual disability, mild	54496	PRMT7	OMIM:617157
HP:0001256	Intellectual disability, mild	54496	PRMT7	ORPHA:464288
HP:0001256	Intellectual disability, mild	2664	GDI1	OMIM:300849
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:398069
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:98754
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:177904
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:177901
HP:0001256	Intellectual disability, mild	201163	FLCN	OMIM:610883
HP:0001256	Intellectual disability, mild	116442	RAB39B	OMIM:311510
HP:0001256	Intellectual disability, mild	10157	AASS	OMIM:238700
HP:0001256	Intellectual disability, mild	10157	AASS	ORPHA:3124
HP:0001256	Intellectual disability, mild	1312	COMT	ORPHA:567
HP:0001256	Intellectual disability, mild	221037	JMJD1C	ORPHA:567
HP:0001256	Intellectual disability, mild	2812	GP1BB	ORPHA:567
HP:0001256	Intellectual disability, mild	6239	RREB1	ORPHA:567
HP:0001256	Intellectual disability, mild	6899	TBX1	ORPHA:567
HP:0001256	Intellectual disability, mild	7290	HIRA	ORPHA:567
HP:0001256	Intellectual disability, mild	9632	SEC24C	ORPHA:567
HP:0001256	Intellectual disability, mild	7353	UFD1	ORPHA:567
HP:0001256	Intellectual disability, mild	421	ARVCF	ORPHA:567
HP:0001256	Intellectual disability, mild	1009	CDH11	OMIM:211380
HP:0001256	Intellectual disability, mild	1137	CHRNA4	ORPHA:98784
HP:0001256	Intellectual disability, mild	1135	CHRNA2	ORPHA:98784
HP:0001256	Intellectual disability, mild	57010	CABP4	ORPHA:98784
HP:0001256	Intellectual disability, mild	1141	CHRNB2	ORPHA:98784
HP:0001256	Intellectual disability, mild	57582	KCNT1	ORPHA:98784
HP:0001256	Intellectual disability, mild	1392	CRH	ORPHA:98784
HP:0001256	Intellectual disability, mild	9681	DEPDC5	ORPHA:98784
HP:0001256	Intellectual disability, mild	8091	HMGA2	ORPHA:94063
HP:0001256	Intellectual disability, mild	23592	LEMD3	ORPHA:94063
HP:0001256	Intellectual disability, mild	10013	HDAC6	OMIM:300863
HP:0001256	Intellectual disability, mild	10013	HDAC6	ORPHA:163966
HP:0001256	Intellectual disability, mild	9757	KMT2B	OMIM:617284
HP:0001256	Intellectual disability, mild	4613	MYCN	OMIM:164280
HP:0001256	Intellectual disability, mild	57187	THOC2	ORPHA:457240
HP:0001256	Intellectual disability, mild	9401	RECQL4	OMIM:266280
HP:0001256	Intellectual disability, mild	55186	SLC25A36	OMIM:620211
HP:0001256	Intellectual disability, mild	3251	HPRT1	ORPHA:510
HP:0001256	Intellectual disability, mild	10771	ZMYND11	OMIM:616083
HP:0001256	Intellectual disability, mild	6611	SMS	ORPHA:3063
HP:0001256	Intellectual disability, mild	1021	CDK6	OMIM:616080
HP:0001256	Intellectual disability, mild	55213	RCBTB1	OMIM:617175
HP:0001256	Intellectual disability, mild	29957	SLC25A24	ORPHA:2095
HP:0001256	Intellectual disability, mild	2892	GRIA3	ORPHA:364028
HP:0001256	Intellectual disability, mild	8452	CUL3	OMIM:619239
HP:0001256	Intellectual disability, mild	92935	MARS2	ORPHA:314603
HP:0001256	Intellectual disability, mild	246329	STAC3	ORPHA:168572
HP:0001256	Intellectual disability, mild	5781	PTPN11	ORPHA:500
HP:0001256	Intellectual disability, mild	5781	PTPN11	OMIM:151100
HP:0001256	Intellectual disability, mild	673	BRAF	ORPHA:500
HP:0001256	Intellectual disability, mild	5894	RAF1	ORPHA:500
HP:0001256	Intellectual disability, mild	79147	FKRP	ORPHA:370959
HP:0001256	Intellectual disability, mild	29954	POMT2	ORPHA:370959
HP:0001256	Intellectual disability, mild	84197	POMK	ORPHA:370959
HP:0001256	Intellectual disability, mild	55624	POMGNT1	ORPHA:370959
HP:0001256	Intellectual disability, mild	10585	POMT1	ORPHA:370959
HP:0001256	Intellectual disability, mild	23067	SETD1B	OMIM:619000
HP:0001256	Intellectual disability, mild	6197	RPS6KA3	OMIM:300844
HP:0001256	Intellectual disability, mild	288	ANK3	ORPHA:356996
HP:0001256	Intellectual disability, mild	55717	WDR11	OMIM:620237
HP:0001256	Intellectual disability, mild	84905	ZNF341	OMIM:618282
HP:0001256	Intellectual disability, mild	4693	NDP	ORPHA:891
HP:0001256	Intellectual disability, mild	1499	CTNNB1	ORPHA:891
HP:0001256	Intellectual disability, mild	23554	TSPAN12	ORPHA:891
HP:0001256	Intellectual disability, mild	79797	ZNF408	ORPHA:891
HP:0001256	Intellectual disability, mild	8322	FZD4	ORPHA:891
HP:0001256	Intellectual disability, mild	4508	MT-ATP6	ORPHA:225154
HP:0001256	Intellectual disability, mild	23636	NUP62	ORPHA:225154
HP:0001256	Intellectual disability, mild	103	ADAR	ORPHA:225154
HP:0001256	Intellectual disability, mild	4256	MGP	OMIM:245150
HP:0001256	Intellectual disability, mild	4256	MGP	ORPHA:85202
HP:0001256	Intellectual disability, mild	2332	FMR1	ORPHA:261483
HP:0001256	Intellectual disability, mild	6571	SLC18A2	OMIM:618049
HP:0001256	Intellectual disability, mild	89970	RSPRY1	ORPHA:457395
HP:0001256	Intellectual disability, mild	23133	PHF8	ORPHA:85287
HP:0001256	Intellectual disability, mild	23133	PHF8	OMIM:300263
HP:0001256	Intellectual disability, mild	92344	GORAB	ORPHA:2078
HP:0001256	Intellectual disability, mild	5831	PYCR1	ORPHA:2078
HP:0001256	Intellectual disability, mild	8799	PEX11B	OMIM:614920
HP:0001256	Intellectual disability, mild	10020	GNE	ORPHA:3166
HP:0001256	Intellectual disability, mild	10020	GNE	OMIM:269921
HP:0001256	Intellectual disability, mild	10079	ATP9A	OMIM:620242
HP:0001256	Intellectual disability, mild	4668	NAGA	OMIM:609242
HP:0001256	Intellectual disability, mild	4668	NAGA	ORPHA:79280
HP:0001256	Intellectual disability, mild	5611	DNAJC3	ORPHA:445062
HP:0001256	Intellectual disability, mild	1630	DCC	OMIM:157600
HP:0001256	Intellectual disability, mild	1630	DCC	ORPHA:238722
HP:0001256	Intellectual disability, mild	91574	MTRFR	ORPHA:320375
HP:0001256	Intellectual disability, mild	375056	MIA3	OMIM:619269
HP:0001256	Intellectual disability, mild	284361	EMC10	OMIM:619264
HP:0001256	Intellectual disability, mild	9652	SKIC3	ORPHA:84064
HP:0001256	Intellectual disability, mild	6499	SKIC2	ORPHA:84064
HP:0001256	Intellectual disability, mild	55315	SLC29A3	ORPHA:168569
HP:0001256	Intellectual disability, mild	2138	EYA1	OMIM:166780
HP:0001256	Intellectual disability, mild	5696	PSMB8	OMIM:256040
HP:0001256	Intellectual disability, mild	3516	RBPJ	OMIM:614814
HP:0001256	Intellectual disability, mild	8085	KMT2D	OMIM:147920
HP:0001256	Intellectual disability, mild	7403	KDM6A	OMIM:147920
HP:0001256	Intellectual disability, mild	23443	SLC35A3	ORPHA:370943
HP:0001256	Intellectual disability, mild	324	APC	ORPHA:261584
HP:0001256	Intellectual disability, mild	6853	SYN1	OMIM:300115
HP:0001256	Intellectual disability, mild	1183	CLCN4	OMIM:300114
HP:0001256	Intellectual disability, mild	84282	RNF135	ORPHA:137634
HP:0001256	Intellectual disability, mild	10806	SDCCAG8	OMIM:613615
HP:0001256	Intellectual disability, mild	23126	POGZ	ORPHA:468678
HP:0001256	Intellectual disability, mild	64324	NSD1	ORPHA:821
HP:0001256	Intellectual disability, mild	29072	SETD2	ORPHA:821
HP:0001256	Intellectual disability, mild	10297	APC2	ORPHA:821
HP:0001256	Intellectual disability, mild	10093	ARPC4	OMIM:620141
HP:0001256	Intellectual disability, mild	6658	SOX3	OMIM:300123
HP:0001256	Intellectual disability, mild	4281	MID1	OMIM:300000
HP:0001256	Intellectual disability, mild	56623	INPP5E	ORPHA:75858
HP:0001256	Intellectual disability, mild	10847	SRCAP	ORPHA:2044
HP:0001256	Intellectual disability, mild	55780	ERMARD	ORPHA:75857
HP:0001256	Intellectual disability, mild	6866	TAC3	OMIM:614839
HP:0001256	Intellectual disability, mild	25778	DSTYK	OMIM:270750
HP:0001256	Intellectual disability, mild	9382	COG1	ORPHA:263508
HP:0001256	Intellectual disability, mild	64601	VPS16	OMIM:619291
HP:0001256	Intellectual disability, mild	274	BIN1	OMIM:255200
HP:0001256	Intellectual disability, mild	274	BIN1	ORPHA:169186
HP:0001256	Intellectual disability, mild	50814	NSDHL	OMIM:308050
HP:0001256	Intellectual disability, mild	1757	SARDH	ORPHA:3129
HP:0001256	Intellectual disability, mild	5631	PRPS1	ORPHA:1187
HP:0001256	Intellectual disability, mild	7080	NKX2-1	ORPHA:209905
HP:0001256	Intellectual disability, mild	8546	AP3B1	OMIM:608233
HP:0001256	Intellectual disability, mild	1678	TIMM8A	OMIM:304700
HP:0001256	Intellectual disability, mild	4591	TRIM37	OMIM:253250
HP:0001256	Intellectual disability, mild	60	ACTB	OMIM:607371
HP:0001256	Intellectual disability, mild	124512	METTL23	OMIM:615942
HP:0001256	Intellectual disability, mild	5728	PTEN	ORPHA:79076
HP:0001256	Intellectual disability, mild	5728	PTEN	OMIM:158350
HP:0001256	Intellectual disability, mild	657	BMPR1A	ORPHA:79076
HP:0001256	Intellectual disability, mild	25942	SIN3A	OMIM:613406
HP:0001256	Intellectual disability, mild	25942	SIN3A	ORPHA:500166
HP:0001256	Intellectual disability, mild	6513	SLC2A1	ORPHA:98811
HP:0001256	Intellectual disability, mild	112476	PRRT2	ORPHA:98811
HP:0001256	Intellectual disability, mild	9907	AP5Z1	OMIM:613647
HP:0001256	Intellectual disability, mild	9711	RUBCN	OMIM:615705
HP:0001256	Intellectual disability, mild	65109	UPF3B	OMIM:300676
HP:0001256	Intellectual disability, mild	4803	NGF	ORPHA:64752
HP:0001256	Intellectual disability, mild	4803	NGF	OMIM:608654
HP:0001256	Intellectual disability, mild	4914	NTRK1	ORPHA:64752
HP:0001256	Intellectual disability, mild	3748	KCNC3	ORPHA:98768
HP:0001256	Intellectual disability, mild	4784	NFIX	ORPHA:420179
HP:0001256	Intellectual disability, mild	80067	DCAF17	ORPHA:3464
HP:0001256	Intellectual disability, mild	2259	FGF14	ORPHA:98764
HP:0001256	Intellectual disability, mild	11128	POLR3A	ORPHA:447896
HP:0001256	Intellectual disability, mild	55027	HEATR3	OMIM:620072
HP:0001256	Intellectual disability, mild	1737	DLAT	OMIM:245348
HP:0001256	Intellectual disability, mild	2200	FBN1	OMIM:608328
HP:0001256	Intellectual disability, mild	2200	FBN1	ORPHA:3449
HP:0001256	Intellectual disability, mild	182	JAG1	OMIM:118450
HP:0001256	Intellectual disability, mild	3708	ITPR1	OMIM:117360
HP:0001256	Intellectual disability, mild	5422	POLA1	ORPHA:163976
HP:0001256	Intellectual disability, mild	7443	VRK1	OMIM:607596
HP:0001256	Intellectual disability, mild	55906	ZC4H2	ORPHA:3454
HP:0001256	Intellectual disability, mild	55906	ZC4H2	OMIM:314580
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:98754
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177904
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177901
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177907
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:98754
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:177904
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:177901
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:98754
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:177904
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:177901
HP:0001256	Intellectual disability, mild	3481	IGF2	ORPHA:2128
HP:0001256	Intellectual disability, mild	10984	KCNQ1OT1	ORPHA:2128
HP:0001256	Intellectual disability, mild	283120	H19	ORPHA:2128
HP:0001256	Intellectual disability, mild	55129	ANO10	ORPHA:284289
HP:0001256	Intellectual disability, mild	254065	BRWD3	OMIM:300659
HP:0001256	Intellectual disability, mild	4053	LTBP2	ORPHA:3449
HP:0001256	Intellectual disability, mild	2146	EZH2	OMIM:277590
HP:0001256	Intellectual disability, mild	55835	CENPJ	OMIM:613676
HP:0001256	Intellectual disability, mild	10815	CPLX1	ORPHA:352582
HP:0001256	Intellectual disability, mild	57465	TBC1D24	ORPHA:352582
HP:0001256	Intellectual disability, mild	5048	PAFAH1B1	ORPHA:95232
HP:0001256	Intellectual disability, mild	92154	MTSS2	OMIM:620086
HP:0001256	Intellectual disability, mild	6567	SLC16A2	ORPHA:59
HP:0001256	Intellectual disability, mild	2033	EP300	OMIM:613684
HP:0001256	Intellectual disability, mild	23590	PDSS1	OMIM:614651
HP:0001256	Intellectual disability, mild	6307	MSMO1	OMIM:616834
HP:0001256	Intellectual disability, mild	79738	BBS10	OMIM:615987
HP:0001256	Intellectual disability, mild	6664	SOX11	OMIM:615866
HP:0001256	Intellectual disability, mild	57410	SCYL1	OMIM:616719
HP:0001256	Intellectual disability, mild	57410	SCYL1	ORPHA:466794
HP:0001256	Intellectual disability, mild	84705	GTPBP3	ORPHA:444013
HP:0001256	Intellectual disability, mild	10290	SPEG	ORPHA:169186
HP:0001256	Intellectual disability, mild	6261	RYR1	ORPHA:169186
HP:0001256	Intellectual disability, mild	7273	TTN	ORPHA:169186
HP:0001256	Intellectual disability, mild	5888	RAD51	ORPHA:238722
HP:0001256	Intellectual disability, mild	10126	DNAL4	ORPHA:238722
HP:0001256	Intellectual disability, mild	9423	NTN1	ORPHA:238722
HP:0001256	Intellectual disability, mild	2245	FGD1	OMIM:305400
HP:0001256	Intellectual disability, mild	51621	KLF13	OMIM:612001
HP:0001256	Intellectual disability, mild	1139	CHRNA7	OMIM:612001
HP:0001256	Intellectual disability, mild	5648	MASP1	OMIM:257920
HP:0001256	Intellectual disability, mild	57704	GBA2	ORPHA:352641
HP:0001256	Intellectual disability, mild	6334	SCN8A	OMIM:614306
HP:0001256	Intellectual disability, mild	6712	SPTBN2	ORPHA:352403
HP:0001256	Intellectual disability, mild	55187	VPS13D	OMIM:607317
HP:0001256	Intellectual disability, mild	84816	RTN4IP1	OMIM:616732
HP:0001256	Intellectual disability, mild	131118	DNAJC19	OMIM:610198
HP:0001256	Intellectual disability, mild	169792	GLIS3	OMIM:610199
HP:0001256	Intellectual disability, mild	3897	L1CAM	ORPHA:306617
HP:0001256	Intellectual disability, mild	767	CA8	OMIM:613227
HP:0001256	Intellectual disability, mild	2122	MECOM	OMIM:616738
HP:0001256	Intellectual disability, mild	2592	GALT	ORPHA:79239
HP:0001256	Intellectual disability, mild	4763	NF1	OMIM:162200
HP:0001256	Intellectual disability, mild	27315	PGAP2	OMIM:614207
HP:0001256	Intellectual disability, mild	54974	THG1L	OMIM:618800
HP:0001256	Intellectual disability, mild	291	SLC25A4	OMIM:615418
HP:0001256	Intellectual disability, mild	20	ABCA2	OMIM:618808
HP:0001256	Intellectual disability, mild	23400	ATP13A2	OMIM:606693
HP:0001256	Intellectual disability, mild	51185	CRBN	OMIM:607417
HP:0001256	Intellectual disability, mild	57599	WDR48	ORPHA:401800
HP:0001256	Intellectual disability, mild	5718	PSMD12	ORPHA:529962
HP:0001256	Intellectual disability, mild	2186	BPTF	ORPHA:529962
HP:0001256	Intellectual disability, mild	29980	DONSON	OMIM:617604
HP:0001256	Intellectual disability, mild	158326	FREM1	OMIM:608980
HP:0001256	Intellectual disability, mild	9150	CTDP1	ORPHA:48431
HP:0001256	Intellectual disability, mild	26580	BSCL2	OMIM:269700
HP:0001256	Intellectual disability, mild	4929	NR4A2	OMIM:619911
HP:0001256	Intellectual disability, mild	220296	HEPACAM	OMIM:604004
HP:0001256	Intellectual disability, mild	23209	MLC1	OMIM:604004
HP:0001256	Intellectual disability, mild	54880	BCOR	OMIM:300166
HP:0001256	Intellectual disability, mild	80055	PGAP1	ORPHA:401820
HP:0001256	Intellectual disability, mild	7204	TRIO	ORPHA:476126
HP:0001256	Intellectual disability, mild	9702	CEP57	OMIM:614114
HP:0001256	Intellectual disability, mild	4780	NFE2L2	OMIM:617744
HP:0001256	Intellectual disability, mild	3295	HSD17B4	OMIM:233400
HP:0001256	Intellectual disability, mild	113246	C12orf57	OMIM:218340
HP:0001256	Intellectual disability, mild	5456	POU3F4	ORPHA:1435
HP:0001256	Intellectual disability, mild	139285	AMER1	OMIM:300373
HP:0001256	Intellectual disability, mild	25782	RAB3GAP2	ORPHA:401830
HP:0001256	Intellectual disability, mild	4841	NONO	ORPHA:466791
HP:0001256	Intellectual disability, mild	57502	NLGN4X	OMIM:300495
HP:0001256	Intellectual disability, mild	210	ALAD	ORPHA:100924
HP:0001256	Intellectual disability, mild	2898	GRIK2	OMIM:611092
HP:0001256	Intellectual disability, mild	4141	MARS1	ORPHA:401835
HP:0001256	Intellectual disability, mild	119559	SFXN4	OMIM:615578
HP:0001256	Intellectual disability, mild	57104	PNPLA2	ORPHA:98908
HP:0001256	Intellectual disability, mild	6469	SHH	OMIM:147250
HP:0001256	Intellectual disability, mild	51684	SUFU	OMIM:617757
HP:0001256	Intellectual disability, mild	51663	ZFR	ORPHA:401840
HP:0001256	Intellectual disability, mild	23309	SIN3B	ORPHA:500166
HP:0001256	Intellectual disability, mild	23404	EXOSC2	OMIM:617763
HP:0001256	Intellectual disability, mild	3832	KIF11	OMIM:152950
HP:0001256	Intellectual disability, mild	23001	WDFY3	OMIM:617520
HP:0001256	Intellectual disability, mild	1806	DPYD	ORPHA:293948
HP:0001256	Intellectual disability, mild	6736	SRY	ORPHA:1772
HP:0001256	Intellectual disability, mild	5290	PIK3CA	OMIM:615108
HP:0001256	Intellectual disability, mild	207	AKT1	OMIM:615109
HP:0001256	Intellectual disability, mild	7337	UBE3A	ORPHA:411511
HP:0001256	Intellectual disability, mild	58499	ZNF462	OMIM:618619
HP:0001256	Intellectual disability, mild	9990	SLC12A6	OMIM:218000
HP:0000743	Frontal release signs	11152	WDR45	OMIM:300894
HP:0000743	Frontal release signs	11152	WDR45	ORPHA:329284
HP:0000743	Frontal release signs	25978	CHMP2B	OMIM:600795
HP:0000743	Frontal release signs	4137	MAPT	OMIM:601104
HP:0000743	Frontal release signs	4137	MAPT	ORPHA:240103
HP:0000743	Frontal release signs	6908	TBP	OMIM:607136
HP:0002492	Morphological abnormality of the corticospinal tract	6253	RTN2	ORPHA:100993
HP:0002492	Morphological abnormality of the corticospinal tract	51271	UBAP1	ORPHA:100993
HP:0002492	Morphological abnormality of the corticospinal tract	126129	CPT1C	ORPHA:444099
HP:0002492	Morphological abnormality of the corticospinal tract	9897	WASHC5	OMIM:603563
HP:0002492	Morphological abnormality of the corticospinal tract	9897	WASHC5	ORPHA:100989
HP:0002492	Morphological abnormality of the corticospinal tract	123606	NIPA1	OMIM:600363
HP:0002492	Morphological abnormality of the corticospinal tract	6687	SPG7	OMIM:607259
HP:0002492	Morphological abnormality of the corticospinal tract	3839	KPNA3	ORPHA:171612
HP:0002492	Morphological abnormality of the corticospinal tract	9197	SLC33A1	ORPHA:171863
HP:0002492	Morphological abnormality of the corticospinal tract	6683	SPAST	OMIM:182601
HP:0002492	Morphological abnormality of the corticospinal tract	51062	ATL1	OMIM:182600
HP:0002492	Morphological abnormality of the corticospinal tract	6647	SOD1	OMIM:105400
HP:0002492	Morphological abnormality of the corticospinal tract	5630	PRPH	OMIM:105400
HP:0002492	Morphological abnormality of the corticospinal tract	1639	DCTN1	OMIM:105400
HP:0002492	Morphological abnormality of the corticospinal tract	4744	NEFH	OMIM:105400
HP:0002492	Morphological abnormality of the corticospinal tract	5354	PLP1	OMIM:312920
HP:0002492	Morphological abnormality of the corticospinal tract	2521	FUS	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	8878	SQSTM1	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	7415	VCP	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	23435	TARDBP	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	29110	TBK1	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	400916	CHCHD10	ORPHA:275872
HP:0002492	Morphological abnormality of the corticospinal tract	80208	SPG11	OMIM:604360
HP:0002492	Morphological abnormality of the corticospinal tract	5888	RAD51	ORPHA:238722
HP:0002492	Morphological abnormality of the corticospinal tract	10126	DNAL4	ORPHA:238722
HP:0002492	Morphological abnormality of the corticospinal tract	9423	NTN1	ORPHA:238722
HP:0002492	Morphological abnormality of the corticospinal tract	1630	DCC	ORPHA:238722
HP:0002492	Morphological abnormality of the corticospinal tract	2581	GALC	ORPHA:206448
HP:0002492	Morphological abnormality of the corticospinal tract	57679	ALS2	OMIM:607225
HP:0002492	Morphological abnormality of the corticospinal tract	2314	FLII	ORPHA:819
HP:0002492	Morphological abnormality of the corticospinal tract	23096	IQSEC2	ORPHA:819
HP:0002492	Morphological abnormality of the corticospinal tract	10743	RAI1	ORPHA:819
HP:0002492	Morphological abnormality of the corticospinal tract	10522	DEAF1	ORPHA:819
HP:0002492	Morphological abnormality of the corticospinal tract	5162	PDHB	ORPHA:255138
HP:0002492	Morphological abnormality of the corticospinal tract	3897	L1CAM	OMIM:307000
HP:0002492	Morphological abnormality of the corticospinal tract	4508	MT-ATP6	ORPHA:644
HP:0002492	Morphological abnormality of the corticospinal tract	4508	MT-ATP6	OMIM:551500
HP:0002492	Morphological abnormality of the corticospinal tract	6804	STX1A	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	7461	CLIP2	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	84277	DNAJC30	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	8468	FKBP6	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	5982	RFC2	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	2969	GTF2I	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	3984	LIMK1	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	9569	GTF2IRD1	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	155382	VPS37D	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	155368	METTL27	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	114049	BUD23	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	7458	EIF4H	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	84163	GTF2IRD2	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	9275	BCL7B	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	26608	TBL2	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	653361	NCF1	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	135886	TMEM270	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	51085	MLXIPL	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	9031	BAZ1B	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	2006	ELN	ORPHA:904
HP:0002492	Morphological abnormality of the corticospinal tract	215	ABCD1	ORPHA:139399
HP:0006913	Frontal cortical atrophy	4208	MEF2C	ORPHA:228384
HP:0006913	Frontal cortical atrophy	2892	GRIA3	OMIM:300699
HP:0006913	Frontal cortical atrophy	80208	SPG11	ORPHA:2822
HP:0006913	Frontal cortical atrophy	23230	VPS13A	ORPHA:2388
HP:0006913	Frontal cortical atrophy	4983	OPHN1	ORPHA:137831
HP:0006913	Frontal cortical atrophy	55681	SCYL2	OMIM:618766
HP:0006913	Frontal cortical atrophy	3097	HIVEP2	OMIM:616977
HP:0006913	Frontal cortical atrophy	25973	PARS2	OMIM:618437
HP:0006913	Frontal cortical atrophy	7415	VCP	OMIM:167320
HP:0006913	Frontal cortical atrophy	1528	CYB5A	ORPHA:621
HP:0006913	Frontal cortical atrophy	1727	CYB5R3	ORPHA:621
HP:0006913	Frontal cortical atrophy	29954	POMT2	ORPHA:206559
HP:0006915	Inability to walk by childhood/adolescence	54332	GDAP1	OMIM:214400
HP:0006915	Inability to walk by childhood/adolescence	80036	TRPM3	OMIM:620224
HP:0006915	Inability to walk by childhood/adolescence	9927	MFN2	ORPHA:99947
HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	10397	NDRG1	OMIM:601455
HP:0001751	Abnormal vestibular function	65217	PCDH15	OMIM:601067
HP:0001751	Abnormal vestibular function	65217	PCDH15	OMIM:602083
HP:0001751	Abnormal vestibular function	64072	CDH23	OMIM:601067
HP:0001751	Abnormal vestibular function	64072	CDH23	OMIM:601386
HP:0001751	Abnormal vestibular function	491	ATP2B2	OMIM:601386
HP:0001751	Abnormal vestibular function	5137	PDE1C	OMIM:618140
HP:0001751	Abnormal vestibular function	7840	ALMS1	ORPHA:64
HP:0001751	Abnormal vestibular function	117531	TMC1	OMIM:600974
HP:0001751	Abnormal vestibular function	126326	GIPC3	OMIM:601869
HP:0001751	Abnormal vestibular function	53405	CLIC5	OMIM:616042
HP:0001751	Abnormal vestibular function	23262	PPIP5K2	OMIM:618422
HP:0001751	Abnormal vestibular function	22901	ARSG	OMIM:618144
HP:0001751	Abnormal vestibular function	57465	TBC1D24	OMIM:616044
HP:0001751	Abnormal vestibular function	222662	LHFPL5	OMIM:610265
HP:0001751	Abnormal vestibular function	4171	MCM2	OMIM:616968
HP:0001751	Abnormal vestibular function	5357	PLS1	OMIM:618787
HP:0001751	Abnormal vestibular function	10804	GJB6	OMIM:612645
HP:0001751	Abnormal vestibular function	10804	GJB6	OMIM:220290
HP:0001751	Abnormal vestibular function	246213	SLC17A8	OMIM:605583
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276244
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276241
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276238
HP:0001751	Abnormal vestibular function	8763	CD164	OMIM:616969
HP:0001751	Abnormal vestibular function	643226	GRXCR2	OMIM:615837
HP:0001751	Abnormal vestibular function	10518	CIB2	OMIM:614869
HP:0001751	Abnormal vestibular function	10518	CIB2	OMIM:609439
HP:0001751	Abnormal vestibular function	773	CACNA1A	OMIM:108500
HP:0001751	Abnormal vestibular function	5428	POLG	ORPHA:70595
HP:0001751	Abnormal vestibular function	5428	POLG	OMIM:607459
HP:0001751	Abnormal vestibular function	56652	TWNK	ORPHA:70595
HP:0001751	Abnormal vestibular function	56652	TWNK	OMIM:607459
HP:0001751	Abnormal vestibular function	79966	SCD5	OMIM:619086
HP:0001751	Abnormal vestibular function	124590	USH1G	OMIM:606943
HP:0001751	Abnormal vestibular function	83715	ESPN	OMIM:618632
HP:0001751	Abnormal vestibular function	79731	NARS2	OMIM:618434
HP:0001751	Abnormal vestibular function	23516	SLC39A14	OMIM:144755
HP:0001751	Abnormal vestibular function	645104	CLRN2	OMIM:619174
HP:0001751	Abnormal vestibular function	124842	TMEM132E	OMIM:618481
HP:0001751	Abnormal vestibular function	4646	MYO6	OMIM:607821
HP:0001751	Abnormal vestibular function	79955	PDZD7	OMIM:618003
HP:0001751	Abnormal vestibular function	374462	PTPRQ	OMIM:613391
HP:0001751	Abnormal vestibular function	2706	GJB2	OMIM:220290
HP:0001751	Abnormal vestibular function	2707	GJB3	OMIM:220290
HP:0001751	Abnormal vestibular function	182	JAG1	OMIM:617992
HP:0001751	Abnormal vestibular function	125336	LOXHD1	OMIM:613079
HP:0001751	Abnormal vestibular function	220074	LRTOMT	OMIM:611451
HP:0001751	Abnormal vestibular function	3766	KCNJ10	OMIM:274600
HP:0001751	Abnormal vestibular function	2299	FOXI1	OMIM:274600
HP:0001751	Abnormal vestibular function	5172	SLC26A4	OMIM:274600
HP:0001751	Abnormal vestibular function	1690	COCH	OMIM:618094
HP:0001751	Abnormal vestibular function	1678	TIMM8A	ORPHA:52368
HP:0001751	Abnormal vestibular function	7401	CLRN1	OMIM:276902
HP:0001751	Abnormal vestibular function	55553	SOX6	OMIM:618971
HP:0001751	Abnormal vestibular function	388551	CEACAM16	OMIM:618410
HP:0001751	Abnormal vestibular function	388551	CEACAM16	OMIM:614614
HP:0001751	Abnormal vestibular function	84173	ELMOD3	OMIM:619500
HP:0001751	Abnormal vestibular function	4647	MYO7A	OMIM:601317
HP:0001751	Abnormal vestibular function	4647	MYO7A	OMIM:600060
HP:0001751	Abnormal vestibular function	25861	WHRN	OMIM:611383
HP:0001751	Abnormal vestibular function	389207	GRXCR1	OMIM:613285
HP:0001751	Abnormal vestibular function	1428	CRYM	OMIM:616357
HP:0001751	Abnormal vestibular function	117155	CATSPER2	OMIM:611102
HP:0001751	Abnormal vestibular function	161497	STRC	OMIM:611102
HP:0001751	Abnormal vestibular function	23312	DMXL2	OMIM:617605
HP:0001751	Abnormal vestibular function	9750	RIPOR2	OMIM:616515
HP:0001751	Abnormal vestibular function	3371	TNC	OMIM:615629
HP:0001751	Abnormal vestibular function	152137	CCDC50	OMIM:607453
HP:0001751	Abnormal vestibular function	87178	PNPT1	OMIM:614934
HP:0001751	Abnormal vestibular function	10083	USH1C	ORPHA:231169
HP:0001751	Abnormal vestibular function	10083	USH1C	OMIM:276904
HP:0001751	Abnormal vestibular function	6548	SLC9A1	OMIM:616291
HP:0001751	Abnormal vestibular function	283310	OTOGL	OMIM:614944
HP:0001751	Abnormal vestibular function	340990	OTOG	OMIM:614945
HP:0001751	Abnormal vestibular function	3735	KARS1	OMIM:613916
HP:0001751	Abnormal vestibular function	4575	MT-TS2	ORPHA:231183
HP:0001751	Abnormal vestibular function	3035	HARS1	ORPHA:231183
HP:0001751	Abnormal vestibular function	84131	CEP78	ORPHA:231183
HP:0001751	Abnormal vestibular function	26191	PTPN22	ORPHA:397
HP:0001751	Abnormal vestibular function	3106	HLA-B	ORPHA:397
HP:0001751	Abnormal vestibular function	3106	HLA-B	ORPHA:117
HP:0001751	Abnormal vestibular function	3123	HLA-DRB1	ORPHA:397
HP:0001751	Abnormal vestibular function	8974	P4HA2	ORPHA:397
HP:0001751	Abnormal vestibular function	2639	GCDH	ORPHA:25
HP:0001751	Abnormal vestibular function	4352	MPL	ORPHA:71493
HP:0001751	Abnormal vestibular function	4352	MPL	ORPHA:729
HP:0001751	Abnormal vestibular function	7066	THPO	ORPHA:71493
HP:0001751	Abnormal vestibular function	3717	JAK2	ORPHA:71493
HP:0001751	Abnormal vestibular function	3717	JAK2	ORPHA:729
HP:0001751	Abnormal vestibular function	3717	JAK2	OMIM:133100
HP:0001751	Abnormal vestibular function	3736	KCNA1	OMIM:160120
HP:0001751	Abnormal vestibular function	3736	KCNA1	ORPHA:37612
HP:0001751	Abnormal vestibular function	4598	MVK	OMIM:260920
HP:0001751	Abnormal vestibular function	4038	LRP4	OMIM:614305
HP:0001751	Abnormal vestibular function	785	CACNB4	OMIM:613855
HP:0001751	Abnormal vestibular function	785	CACNB4	ORPHA:211067
HP:0001751	Abnormal vestibular function	2057	EPOR	ORPHA:90042
HP:0001751	Abnormal vestibular function	2057	EPOR	OMIM:133100
HP:0001751	Abnormal vestibular function	6261	RYR1	ORPHA:466650
HP:0001751	Abnormal vestibular function	51816	ADA2	ORPHA:820
HP:0001751	Abnormal vestibular function	6507	SLC1A3	ORPHA:209967
HP:0001751	Abnormal vestibular function	6507	SLC1A3	OMIM:612656
HP:0001751	Abnormal vestibular function	3728	JUP	ORPHA:34217
HP:0001751	Abnormal vestibular function	5155	PDGFB	OMIM:615483
HP:0001751	Abnormal vestibular function	4221	MEN1	ORPHA:2965
HP:0001751	Abnormal vestibular function	9049	AIP	ORPHA:2965
HP:0001751	Abnormal vestibular function	7132	TNFRSF1A	ORPHA:32960
HP:0001751	Abnormal vestibular function	4633	MYL2	OMIM:608758
HP:0001751	Abnormal vestibular function	2642	GCGR	OMIM:619290
HP:0001751	Abnormal vestibular function	9131	AIFM1	OMIM:300614
HP:0001751	Abnormal vestibular function	6326	SCN2A	OMIM:618924
HP:0001751	Abnormal vestibular function	6331	SCN5A	ORPHA:1344
HP:0001751	Abnormal vestibular function	6331	SCN5A	ORPHA:871
HP:0001751	Abnormal vestibular function	4878	NPPA	ORPHA:1344
HP:0001751	Abnormal vestibular function	54790	TET2	ORPHA:729
HP:0001751	Abnormal vestibular function	2717	GLA	ORPHA:324
HP:0001751	Abnormal vestibular function	112476	PRRT2	ORPHA:569
HP:0001751	Abnormal vestibular function	6323	SCN1A	ORPHA:569
HP:0001751	Abnormal vestibular function	477	ATP1A2	ORPHA:569
HP:0001751	Abnormal vestibular function	477	ATP1A2	OMIM:602481
HP:0001751	Abnormal vestibular function	1281	COL3A1	ORPHA:286
HP:0001751	Abnormal vestibular function	2992	GYG1	ORPHA:263297
HP:0001751	Abnormal vestibular function	54805	CNNM2	OMIM:613882
HP:0001751	Abnormal vestibular function	595	CCND1	OMIM:193300
HP:0001751	Abnormal vestibular function	595	CCND1	ORPHA:892
HP:0001751	Abnormal vestibular function	7428	VHL	OMIM:193300
HP:0001751	Abnormal vestibular function	7428	VHL	ORPHA:892
HP:0001751	Abnormal vestibular function	27010	TPK1	OMIM:614458
HP:0001751	Abnormal vestibular function	10528	NOP56	ORPHA:276198
HP:0001751	Abnormal vestibular function	2313	FLI1	ORPHA:370348
HP:0001751	Abnormal vestibular function	1499	CTNNB1	ORPHA:54595
HP:0001751	Abnormal vestibular function	673	BRAF	ORPHA:54595
HP:0001751	Abnormal vestibular function	2259	FGF14	OMIM:620174
HP:0001751	Abnormal vestibular function	4771	NF2	OMIM:101000
HP:0001751	Abnormal vestibular function	54795	TRPM4	ORPHA:871
HP:0001751	Abnormal vestibular function	1482	NKX2-5	ORPHA:871
HP:0001751	Abnormal vestibular function	6324	SCN1B	ORPHA:871
HP:0001751	Abnormal vestibular function	10019	SH2B3	OMIM:133100
HP:0001751	Abnormal vestibular function	1621	DBH	ORPHA:230
HP:0001751	Abnormal vestibular function	2624	GATA2	ORPHA:3226
HP:0001751	Abnormal vestibular function	30813	VSX1	OMIM:614195
HP:0001751	Abnormal vestibular function	801	CALM1	OMIM:614916
HP:0001751	Abnormal vestibular function	801	CALM1	ORPHA:3286
HP:0001751	Abnormal vestibular function	9968	MED12	OMIM:301068
HP:0001751	Abnormal vestibular function	8913	CACNA1G	ORPHA:458803
HP:0001751	Abnormal vestibular function	6389	SDHA	OMIM:619259
HP:0001751	Abnormal vestibular function	22943	DKK1	ORPHA:268882
HP:0001751	Abnormal vestibular function	4668	NAGA	ORPHA:79280
HP:0001751	Abnormal vestibular function	4668	NAGA	OMIM:609242
HP:0001751	Abnormal vestibular function	4668	NAGA	ORPHA:79279
HP:0001751	Abnormal vestibular function	805	CALM2	ORPHA:3286
HP:0001751	Abnormal vestibular function	253017	TECRL	ORPHA:3286
HP:0001751	Abnormal vestibular function	10345	TRDN	ORPHA:3286
HP:0001751	Abnormal vestibular function	808	CALM3	ORPHA:3286
HP:0001751	Abnormal vestibular function	845	CASQ2	ORPHA:3286
HP:0001751	Abnormal vestibular function	6262	RYR2	ORPHA:3286
HP:0001751	Abnormal vestibular function	6774	STAT3	ORPHA:520
HP:0001751	Abnormal vestibular function	5371	PML	ORPHA:520
HP:0001751	Abnormal vestibular function	5914	RARA	ORPHA:520
HP:0001751	Abnormal vestibular function	359948	IRF2BP2	ORPHA:520
HP:0001751	Abnormal vestibular function	81608	FIP1L1	ORPHA:520
HP:0001751	Abnormal vestibular function	4869	NPM1	ORPHA:520
HP:0001751	Abnormal vestibular function	5573	PRKAR1A	ORPHA:520
HP:0001751	Abnormal vestibular function	54880	BCOR	ORPHA:520
HP:0001751	Abnormal vestibular function	64859	NABP1	ORPHA:520
HP:0001751	Abnormal vestibular function	6777	STAT5B	ORPHA:520
HP:0001751	Abnormal vestibular function	4926	NUMA1	ORPHA:520
HP:0001751	Abnormal vestibular function	7704	ZBTB16	ORPHA:520
HP:0001751	Abnormal vestibular function	79718	TBL1XR1	ORPHA:520
HP:0001751	Abnormal vestibular function	4615	MYD88	ORPHA:33226
HP:0001751	Abnormal vestibular function	6559	SLC12A3	OMIM:263800
HP:0001751	Abnormal vestibular function	6559	SLC12A3	ORPHA:358
HP:0001751	Abnormal vestibular function	1188	CLCNKB	ORPHA:358
HP:0001751	Abnormal vestibular function	149233	IL23R	ORPHA:117
HP:0001751	Abnormal vestibular function	6775	STAT4	ORPHA:117
HP:0001751	Abnormal vestibular function	3586	IL10	ORPHA:117
HP:0001751	Abnormal vestibular function	4210	MEFV	ORPHA:117
HP:0001751	Abnormal vestibular function	1230	CCR1	ORPHA:117
HP:0001751	Abnormal vestibular function	355	FAS	ORPHA:117
HP:0001751	Abnormal vestibular function	3592	IL12A	ORPHA:117
HP:0001751	Abnormal vestibular function	101928376	IL12A-AS1	ORPHA:117
HP:0001751	Abnormal vestibular function	7099	TLR4	ORPHA:117
HP:0001751	Abnormal vestibular function	3459	IFNGR1	ORPHA:117
HP:0001751	Abnormal vestibular function	720	C4A	ORPHA:117
HP:0001751	Abnormal vestibular function	337867	UBAC2	ORPHA:117
HP:0001751	Abnormal vestibular function	51752	ERAP1	ORPHA:117
HP:0001751	Abnormal vestibular function	8302	KLRC4	ORPHA:117
HP:0001751	Abnormal vestibular function	54845	ESRP1	OMIM:618013
HP:0001751	Abnormal vestibular function	5981	RFC1	OMIM:614575
HP:0001751	Abnormal vestibular function	5981	RFC1	ORPHA:504476
HP:0001751	Abnormal vestibular function	1743	DLST	ORPHA:29072
HP:0001751	Abnormal vestibular function	4191	MDH2	ORPHA:29072
HP:0001751	Abnormal vestibular function	5979	RET	ORPHA:29072
HP:0001751	Abnormal vestibular function	5979	RET	ORPHA:276621
HP:0001751	Abnormal vestibular function	23095	KIF1B	ORPHA:29072
HP:0001751	Abnormal vestibular function	2271	FH	ORPHA:29072
HP:0001751	Abnormal vestibular function	8402	SLC25A11	ORPHA:29072
HP:0001751	Abnormal vestibular function	54949	SDHAF2	ORPHA:29072
HP:0001751	Abnormal vestibular function	55654	TMEM127	ORPHA:29072
HP:0001751	Abnormal vestibular function	4763	NF1	ORPHA:29072
HP:0001751	Abnormal vestibular function	6391	SDHC	ORPHA:29072
HP:0001751	Abnormal vestibular function	6392	SDHD	ORPHA:29072
HP:0001751	Abnormal vestibular function	6392	SDHD	ORPHA:276621
HP:0001751	Abnormal vestibular function	6390	SDHB	ORPHA:29072
HP:0001751	Abnormal vestibular function	6390	SDHB	ORPHA:276621
HP:0001751	Abnormal vestibular function	4149	MAX	ORPHA:29072
HP:0001751	Abnormal vestibular function	1788	DNMT3A	ORPHA:276621
HP:0001751	Abnormal vestibular function	2034	EPAS1	ORPHA:276621
HP:0001751	Abnormal vestibular function	2395	FXN	ORPHA:95
HP:0006918	Diffuse cerebral sclerosis	9255	AIMP1	OMIM:260600
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10682	EBP	ORPHA:401973
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5138	PDE2A	OMIM:619150
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3064	HTT	ORPHA:399
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6515	SLC2A3	ORPHA:399
HP:0006919	Abnormal aggressive, impulsive or violent behavior	199857	ALG14	OMIM:619031
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8450	CUL4B	OMIM:300354
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8450	CUL4B	ORPHA:85293
HP:0006919	Abnormal aggressive, impulsive or violent behavior	158	ADSL	OMIM:103050
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6535	SLC6A8	OMIM:300352
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23394	ADNP	ORPHA:404448
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26960	NBEA	OMIM:619157
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1183	CLCN4	OMIM:300114
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1183	CLCN4	ORPHA:485350
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9853	RUSC2	OMIM:617773
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2972	BRF1	OMIM:616202
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4897	NRCAM	OMIM:619833
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7109	TRAPPC10	OMIM:620027
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3703	STT3A	OMIM:619714
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4693	NDP	OMIM:310600
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1788	DNMT3A	ORPHA:404443
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1119	CHKA	OMIM:620023
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5457	POU4F1	ORPHA:314647
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23261	CAMTA1	ORPHA:314647
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23261	CAMTA1	OMIM:614756
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79581	SLC52A2	OMIM:614707
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23126	POGZ	ORPHA:468678
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23126	POGZ	OMIM:616364
HP:0006919	Abnormal aggressive, impulsive or violent behavior	64324	NSD1	ORPHA:821
HP:0006919	Abnormal aggressive, impulsive or violent behavior	64324	NSD1	OMIM:117550
HP:0006919	Abnormal aggressive, impulsive or violent behavior	29072	SETD2	ORPHA:821
HP:0006919	Abnormal aggressive, impulsive or violent behavior	29072	SETD2	OMIM:616831
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10297	APC2	ORPHA:821
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10093	ARPC4	OMIM:620141
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2731	GLDC	OMIM:605899
HP:0006919	Abnormal aggressive, impulsive or violent behavior	275	AMT	OMIM:605899
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2593	GAMT	ORPHA:382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2593	GAMT	OMIM:612736
HP:0006919	Abnormal aggressive, impulsive or violent behavior	116931	MED12L	OMIM:618872
HP:0006919	Abnormal aggressive, impulsive or violent behavior	387119	CEP85L	OMIM:618873
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9578	CDC42BPB	OMIM:619841
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57582	KCNT1	OMIM:615005
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51111	KMT5B	OMIM:617788
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8239	USP9X	OMIM:300919
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55690	PACS1	OMIM:615009
HP:0006919	Abnormal aggressive, impulsive or violent behavior	56623	INPP5E	ORPHA:75858
HP:0006919	Abnormal aggressive, impulsive or violent behavior	56623	INPP5E	OMIM:213300
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10847	SRCAP	ORPHA:2044
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10847	SRCAP	OMIM:136140
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5689	PSMB1	OMIM:620038
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57082	KNL1	OMIM:604321
HP:0006919	Abnormal aggressive, impulsive or violent behavior	284403	WDR62	OMIM:604317
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6660	SOX5	ORPHA:313892
HP:0006919	Abnormal aggressive, impulsive or violent behavior	64601	VPS16	OMIM:619291
HP:0006919	Abnormal aggressive, impulsive or violent behavior	288	ANK3	OMIM:615493
HP:0006919	Abnormal aggressive, impulsive or violent behavior	288	ANK3	ORPHA:356996
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2892	GRIA3	OMIM:300699
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2892	GRIA3	ORPHA:364028
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10134	BCAP31	ORPHA:369939
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57492	ARID1B	OMIM:135900
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57492	ARID1B	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9739	SETD1A	OMIM:619056
HP:0006919	Abnormal aggressive, impulsive or violent behavior	816	CAMK2B	OMIM:617799
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10352	WARS2	OMIM:619738
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10352	WARS2	ORPHA:572798
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10352	WARS2	OMIM:617710
HP:0006919	Abnormal aggressive, impulsive or violent behavior	81857	MED25	ORPHA:464738
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3953	LEPR	OMIM:614963
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23732	FRRS1L	ORPHA:725
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2903	GRIN2A	ORPHA:725
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2903	GRIN2A	ORPHA:98818
HP:0006919	Abnormal aggressive, impulsive or violent behavior	83480	PUS3	ORPHA:488627
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1717	DHCR7	OMIM:270400
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5621	PRNP	OMIM:603218
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5621	PRNP	OMIM:606688
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5621	PRNP	OMIM:137440
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1759	DNM1	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2562	GABRB3	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5602	MAPK10	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	773	CACNA1A	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	773	CACNA1A	ORPHA:2131
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6323	SCN1A	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23316	CUX2	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1106	CHD2	ORPHA:2382
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4297	KMT2A	ORPHA:319182
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4297	KMT2A	OMIM:605130
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3612	IMPA1	OMIM:617323
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6999	TDO2	OMIM:600627
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57178	ZMIZ1	OMIM:618659
HP:0006919	Abnormal aggressive, impulsive or violent behavior	22995	CEP152	OMIM:614852
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3340	NDST1	OMIM:616116
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79583	TMEM231	OMIM:614970
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79813	EHMT1	OMIM:610253
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23314	SATB2	OMIM:612313
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23314	SATB2	ORPHA:251028
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23314	SATB2	ORPHA:251019
HP:0006919	Abnormal aggressive, impulsive or violent behavior	84300	UQCC2	OMIM:615824
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25942	SIN3A	OMIM:613406
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6513	SLC2A1	ORPHA:98811
HP:0006919	Abnormal aggressive, impulsive or violent behavior	112476	PRRT2	ORPHA:98811
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10522	DEAF1	OMIM:615828
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10522	DEAF1	OMIM:617171
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10522	DEAF1	ORPHA:468620
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4247	MGAT2	OMIM:212066
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6908	TBP	OMIM:607136
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7915	ALDH5A1	OMIM:271980
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1499	CTNNB1	ORPHA:404473
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1499	CTNNB1	OMIM:615075
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5654	HTRA1	ORPHA:199354
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4953	ODC1	OMIM:619075
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4953	ODC1	ORPHA:544488
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8260	NAA10	OMIM:309800
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54880	BCOR	OMIM:309800
HP:0006919	Abnormal aggressive, impulsive or violent behavior	29081	METTL5	OMIM:618665
HP:0006919	Abnormal aggressive, impulsive or violent behavior	388662	SLC6A17	ORPHA:457212
HP:0006919	Abnormal aggressive, impulsive or violent behavior	388662	SLC6A17	OMIM:616269
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3028	HSD17B10	OMIM:300438
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5063	PAK3	OMIM:300558
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8905	AP1S2	ORPHA:85335
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8905	AP1S2	ORPHA:85329
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8905	AP1S2	OMIM:304340
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1593	CYP27A1	ORPHA:909
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9354	UBE4A	OMIM:619639
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54902	TTC19	OMIM:615157
HP:0006919	Abnormal aggressive, impulsive or violent behavior	92609	TIMM50	OMIM:617698
HP:0006919	Abnormal aggressive, impulsive or violent behavior	92609	TIMM50	ORPHA:505216
HP:0006919	Abnormal aggressive, impulsive or violent behavior	540	ATP7B	ORPHA:905
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6507	SLC1A3	ORPHA:2131
HP:0006919	Abnormal aggressive, impulsive or violent behavior	477	ATP1A2	ORPHA:2131
HP:0006919	Abnormal aggressive, impulsive or violent behavior	478	ATP1A3	ORPHA:2131
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8659	ALDH4A1	ORPHA:79101
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4952	OCRL	OMIM:309000
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2259	FGF14	ORPHA:98764
HP:0006919	Abnormal aggressive, impulsive or violent behavior	84992	PIGY	OMIM:616809
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25814	ATXN10	ORPHA:98761
HP:0006919	Abnormal aggressive, impulsive or violent behavior	283209	PGM2L1	OMIM:620191
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26137	ZBTB20	OMIM:259050
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25970	SH2B1	ORPHA:329249
HP:0006919	Abnormal aggressive, impulsive or violent behavior	113179	ADAT3	OMIM:615286
HP:0006919	Abnormal aggressive, impulsive or violent behavior	113179	ADAT3	ORPHA:363528
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9896	FIG4	OMIM:612691
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9896	FIG4	ORPHA:208441
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6942	TCF20	OMIM:618430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23400	ATP13A2	OMIM:617225
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23400	ATP13A2	OMIM:606693
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9993	DGCR2	OMIM:192430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8220	ESS2	OMIM:192430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8214	DGCR6	OMIM:192430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54487	DGCR8	OMIM:192430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6899	TBX1	OMIM:192430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10430	TMEM147	OMIM:620075
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51322	WAC	ORPHA:284169
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51322	WAC	OMIM:616708
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51322	WAC	ORPHA:466950
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11152	WDR45	OMIM:300894
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11152	WDR45	ORPHA:329284
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7030	TFE3	OMIM:301066
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55739	NAXD	OMIM:618321
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8242	KDM5C	OMIM:300534
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8242	KDM5C	ORPHA:85279
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9922	IQSEC1	OMIM:618687
HP:0006919	Abnormal aggressive, impulsive or violent behavior	27086	FOXP1	OMIM:613670
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10165	SLC25A13	ORPHA:247585
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3458	IFNG	ORPHA:805
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7248	TSC1	ORPHA:805
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7249	TSC2	ORPHA:805
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6683	SPAST	OMIM:182601
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6595	SMARCA2	OMIM:601358
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7319	UBE2A	ORPHA:163956
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7319	UBE2A	OMIM:300860
HP:0006919	Abnormal aggressive, impulsive or violent behavior	164	AP1G1	OMIM:619548
HP:0006919	Abnormal aggressive, impulsive or violent behavior	164	AP1G1	OMIM:619467
HP:0006919	Abnormal aggressive, impulsive or violent behavior	339453	TMEM240	OMIM:607454
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3720	JARID2	OMIM:620098
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1203	CLN5	ORPHA:228360
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57526	PCDH19	ORPHA:101039
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57526	PCDH19	OMIM:300088
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23013	SPEN	OMIM:619312
HP:0006919	Abnormal aggressive, impulsive or violent behavior	84894	LINGO1	OMIM:618103
HP:0006919	Abnormal aggressive, impulsive or violent behavior	56896	DPYSL5	OMIM:619435
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1859	DYRK1A	ORPHA:268261
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54517	PUS7	OMIM:618342
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57102	C12orf4	OMIM:618221
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10765	KDM5B	OMIM:618109
HP:0006919	Abnormal aggressive, impulsive or violent behavior	80184	CEP290	OMIM:610188
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8924	HERC2	OMIM:615516
HP:0006919	Abnormal aggressive, impulsive or violent behavior	114327	EFHC1	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2563	GABRD	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1181	CLCN2	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2554	GABRA1	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3786	KCNQ3	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	22858	CILK1	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8629	JRK	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	785	CACNB4	ORPHA:307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3067	HDC	OMIM:137580
HP:0006919	Abnormal aggressive, impulsive or violent behavior	50814	NSDHL	ORPHA:251383
HP:0006919	Abnormal aggressive, impulsive or violent behavior	50814	NSDHL	OMIM:300831
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5575	PRKAR1B	OMIM:619680
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2334	AFF2	ORPHA:100973
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2334	AFF2	OMIM:309548
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1387	CREBBP	ORPHA:353281
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1387	CREBBP	ORPHA:353277
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23114	NFASC	OMIM:618356
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6096	RORB	OMIM:618357
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23030	KDM4B	OMIM:619320
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23291	FBXW11	OMIM:618914
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2782	GNB1	OMIM:616973
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5053	PAH	OMIM:261600
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4081	MAB21L1	OMIM:618479
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1654	DDX3X	ORPHA:457260
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1654	DDX3X	OMIM:300958
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2033	EP300	ORPHA:353284
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3097	HIVEP2	OMIM:616977
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6301	SARS1	OMIM:617709
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5932	RBBP8	OMIM:251255
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26224	FBXL3	OMIM:606220
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55777	MBD5	OMIM:156200
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55250	ELP2	OMIM:617270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51132	RLIM	OMIM:300978
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4128	MAOA	OMIM:300615
HP:0006919	Abnormal aggressive, impulsive or violent behavior	24140	FTSJ1	OMIM:309549
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6601	SMARCC2	OMIM:618362
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6601	SMARCC2	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	63035	BCORL1	OMIM:301029
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7468	NSD2	OMIM:619695
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11253	MAN1B1	OMIM:614202
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6597	SMARCA4	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6598	SMARCB1	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6659	SOX4	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8289	ARID1A	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5977	DPF2	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6602	SMARCD1	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	196528	ARID2	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6605	SMARCE1	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6664	SOX11	ORPHA:1465
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54834	GDAP2	OMIM:618369
HP:0006919	Abnormal aggressive, impulsive or violent behavior	29920	PYCR2	ORPHA:481152
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1201	CLN3	ORPHA:228346
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23389	MED13L	ORPHA:369891
HP:0006919	Abnormal aggressive, impulsive or violent behavior	20	ABCA2	OMIM:618808
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2898	GRIK2	OMIM:619580
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1781	DYNC1I2	OMIM:618492
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5718	PSMD12	ORPHA:529962
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2186	BPTF	ORPHA:529962
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9758	FRMPD4	OMIM:300983
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8802	SUCLG1	ORPHA:17
HP:0006919	Abnormal aggressive, impulsive or violent behavior	80185	TTI2	OMIM:615541
HP:0006919	Abnormal aggressive, impulsive or violent behavior	80185	TTI2	ORPHA:391307
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79576	NKAP	OMIM:301039
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5283	PIGH	OMIM:618010
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4126	MANBA	OMIM:248510
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26040	SETBP1	OMIM:616078
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3188	HNRNPH2	OMIM:300986
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8398	PLA2G6	OMIM:612953
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6697	SPR	OMIM:612716
HP:0006919	Abnormal aggressive, impulsive or violent behavior	84065	TMEM222	OMIM:619470
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10771	ZMYND11	OMIM:616083
HP:0006919	Abnormal aggressive, impulsive or violent behavior	953	ENTPD1	ORPHA:401810
HP:0006919	Abnormal aggressive, impulsive or violent behavior	953	ENTPD1	OMIM:615683
HP:0006919	Abnormal aggressive, impulsive or violent behavior	139411	PTCHD1	OMIM:300830
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55180	LINS1	OMIM:614340
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6711	SPTBN1	OMIM:619475
HP:0006919	Abnormal aggressive, impulsive or violent behavior	81562	LMAN2L	OMIM:616887
HP:0006919	Abnormal aggressive, impulsive or violent behavior	163786	SASS6	OMIM:616402
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7204	TRIO	OMIM:618825
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7204	TRIO	OMIM:617061
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7204	TRIO	ORPHA:476126
HP:0006919	Abnormal aggressive, impulsive or violent behavior	131669	UROC1	OMIM:276880
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23040	MYT1L	OMIM:616521
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9968	MED12	OMIM:309520
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6925	TCF4	ORPHA:2896
HP:0006919	Abnormal aggressive, impulsive or violent behavior	162417	NAGS	OMIM:237310
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7343	UBTF	ORPHA:500180
HP:0006919	Abnormal aggressive, impulsive or violent behavior	63932	STEEP1	OMIM:301013
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4841	NONO	OMIM:300967
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4841	NONO	ORPHA:466791
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6472	SHMT2	OMIM:619121
HP:0006919	Abnormal aggressive, impulsive or violent behavior	91875	TTC5	OMIM:619244
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51473	DCDC2	ORPHA:84081
HP:0006919	Abnormal aggressive, impulsive or violent behavior	91147	TMEM67	ORPHA:84081
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23096	IQSEC2	OMIM:309530
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6853	SYN1	ORPHA:85294
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6853	SYN1	OMIM:300491
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5625	PRODH	OMIM:239500
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2799	GNS	OMIM:252940
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25978	CHMP2B	OMIM:600795
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25978	CHMP2B	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9320	TRIP12	OMIM:617752
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5528	PPP2R5D	ORPHA:457279
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4781	NFIB	OMIM:618286
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55023	PHIP	OMIM:617991
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51780	KDM3B	OMIM:618846
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10079	ATP9A	OMIM:620242
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1893	ECM1	OMIM:247100
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1968	EIF2S3	OMIM:300148
HP:0006919	Abnormal aggressive, impulsive or violent behavior	27161	AGO2	OMIM:619149
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3832	KIF11	OMIM:152950
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7305	TYROBP	OMIM:221770
HP:0006919	Abnormal aggressive, impulsive or violent behavior	341208	HEPHL1	OMIM:261990
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2328	FMO3	ORPHA:468726
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5663	PSEN1	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2896	GRN	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54664	TMEM106B	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8878	SQSTM1	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4137	MAPT	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54209	TREM2	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7415	VCP	ORPHA:275864
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4669	NAGLU	OMIM:252920
HP:0006919	Abnormal aggressive, impulsive or violent behavior	339983	NAT8L	OMIM:614063
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8367	H4C5	OMIM:619950
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54499	TMCO1	OMIM:213980
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57459	GATAD2B	ORPHA:363686
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4983	OPHN1	OMIM:300486
HP:0006919	Abnormal aggressive, impulsive or violent behavior	100147744	RNU7-1	OMIM:619487
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11277	TREX1	OMIM:225750
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8567	MADD	OMIM:619004
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8567	MADD	OMIM:619005
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79868	ALG13	OMIM:300884
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54820	NDE1	OMIM:605013
HP:0006919	Abnormal aggressive, impulsive or violent behavior	113246	C12orf57	OMIM:218340
HP:0006919	Abnormal aggressive, impulsive or violent behavior	818	CAMK2G	OMIM:618522
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8218	CLTCL1	ORPHA:453510
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51574	LARP7	ORPHA:319671
HP:0006919	Abnormal aggressive, impulsive or violent behavior	549	AUH	OMIM:250950
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55181	SMG8	OMIM:619268
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10533	ATG7	OMIM:619422
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55636	CHD7	OMIM:214800
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57187	THOC2	ORPHA:457240
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3000	GUCY2D	OMIM:204000
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6121	RPE65	OMIM:204100
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7287	TULP1	OMIM:613843
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23418	CRB1	OMIM:613835
HP:0006919	Abnormal aggressive, impulsive or violent behavior	64802	NMNAT1	OMIM:608553
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1806	DPYD	ORPHA:1675
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4204	MECP2	ORPHA:3077
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9487	PIGL	OMIM:280000
HP:0006919	Abnormal aggressive, impulsive or violent behavior	80025	PANK2	ORPHA:216873
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9759	HDAC4	OMIM:600430
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6638	SNRPN	ORPHA:177904
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6638	SNRPN	ORPHA:177901
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6638	SNRPN	ORPHA:177907
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6638	SNRPN	ORPHA:98754
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4692	NDN	ORPHA:177904
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4692	NDN	ORPHA:177901
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4692	NDN	ORPHA:98754
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54551	MAGEL2	ORPHA:177904
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54551	MAGEL2	ORPHA:177901
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54551	MAGEL2	ORPHA:398069
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54551	MAGEL2	OMIM:615547
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54551	MAGEL2	ORPHA:98754
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4948	OCA2	ORPHA:177904
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4948	OCA2	ORPHA:177901
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4948	OCA2	ORPHA:98754
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7874	USP7	ORPHA:500055
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26038	CHD5	OMIM:619873
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6492	SIM1	ORPHA:398079
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55904	KMT2E	OMIM:618512
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6532	SLC6A4	OMIM:164230
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3356	HTR2A	OMIM:164230
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26047	CNTNAP2	ORPHA:163681
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23230	VPS13A	ORPHA:2388
HP:0006919	Abnormal aggressive, impulsive or violent behavior	114798	SLITRK1	OMIM:613229
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1917	EEF1A2	OMIM:616393
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6509	SLC1A4	ORPHA:447997
HP:0006919	Abnormal aggressive, impulsive or violent behavior	85358	SHANK3	ORPHA:48652
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1798	DPAGT1	ORPHA:86309
HP:0006919	Abnormal aggressive, impulsive or violent behavior	374969	SVBP	OMIM:618569
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57551	TAOK1	OMIM:619575
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10524	KAT5	OMIM:619103
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5281	PIGF	OMIM:619356
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5594	MAPK1	OMIM:619087
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10743	RAI1	OMIM:182290
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55367	PIDD1	OMIM:619827
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10059	DNM1L	OMIM:614388
HP:0006919	Abnormal aggressive, impulsive or violent behavior	476	ATP1A1	OMIM:618314
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9731	CEP104	OMIM:619988
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6857	SYT1	ORPHA:522077
HP:0006919	Abnormal aggressive, impulsive or violent behavior	340533	NEXMIF	OMIM:300912
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2332	FMR1	OMIM:300624
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4914	NTRK1	ORPHA:642
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2775	GNAO1	OMIM:617493
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2775	GNAO1	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	123606	NIPA1	ORPHA:261183
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7283	TUBG1	ORPHA:261183
HP:0006919	Abnormal aggressive, impulsive or violent behavior	81614	NIPA2	ORPHA:261183
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11133	KPTN	OMIM:615637
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11133	KPTN	ORPHA:397612
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7681	MKRN3	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3653	IPW	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	791114	PWRN1	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	100033413	SNORD116-1	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	145624	PWAR1	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23742	NPAP1	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	338433	SNORD115-1	OMIM:176270
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4784	NFIX	ORPHA:447980
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5515	PPP2CA	OMIM:618354
HP:0006919	Abnormal aggressive, impulsive or violent behavior	80816	ASXL3	OMIM:615485
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57520	HECW2	OMIM:617268
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2902	GRIN1	OMIM:617820
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2902	GRIN1	OMIM:614254
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2902	GRIN1	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2902	GRIN1	ORPHA:208447
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2314	FLII	ORPHA:819
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7086	TKT	ORPHA:488618
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7086	TKT	OMIM:617044
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2891	GRIA2	OMIM:618917
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5934	RBL2	OMIM:619690
HP:0006919	Abnormal aggressive, impulsive or violent behavior	473	RERE	ORPHA:494344
HP:0006919	Abnormal aggressive, impulsive or violent behavior	473	RERE	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	56992	KIF15	ORPHA:261323
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23221	RHOBTB2	OMIM:618004
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6844	VAMP2	OMIM:618760
HP:0006919	Abnormal aggressive, impulsive or violent behavior	535	ATP6V0A1	OMIM:619970
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23325	WASHC4	OMIM:615817
HP:0006919	Abnormal aggressive, impulsive or violent behavior	546	ATRX	ORPHA:847
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1000	CDH2	OMIM:618929
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51185	CRBN	OMIM:607417
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3735	KARS1	OMIM:613641
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6197	RPS6KA3	ORPHA:192
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1182	CLCN3	OMIM:619512
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55773	TBC1D23	OMIM:617695
HP:0006919	Abnormal aggressive, impulsive or violent behavior	259232	NALCN	ORPHA:371364
HP:0006919	Abnormal aggressive, impulsive or violent behavior	285175	UNC80	ORPHA:371364
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5590	PRKCZ	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8510	MMP23B	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	7798	LUZP1	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6497	SKI	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10630	PDPN	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3339	HSPG2	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	10277	UBE4B	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8514	KCNAB2	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	63976	PRDM16	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54897	CASZ1	ORPHA:1606
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25914	RTTN	ORPHA:468631
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8405	SPOP	OMIM:618828
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8936	WASF1	OMIM:618707
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6134	RPL10	ORPHA:435938
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3251	HPRT1	OMIM:300322
HP:0006919	Abnormal aggressive, impulsive or violent behavior	58508	KMT2C	ORPHA:261652
HP:0006919	Abnormal aggressive, impulsive or violent behavior	58508	KMT2C	OMIM:617768
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3800	KIF5C	OMIM:615282
HP:0006919	Abnormal aggressive, impulsive or violent behavior	53335	BCL11A	OMIM:617101
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55164	SHQ1	OMIM:619922
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79633	FAT4	ORPHA:314679
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8642	DCHS1	ORPHA:314679
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9568	GABBR2	OMIM:617904
HP:0006919	Abnormal aggressive, impulsive or violent behavior	26154	ABCA12	ORPHA:457
HP:0006919	Abnormal aggressive, impulsive or violent behavior	84628	NTNG2	OMIM:618718
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2706	GJB2	ORPHA:494
HP:0006919	Abnormal aggressive, impulsive or violent behavior	25836	NIPBL	OMIM:122470
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2890	GRIA1	OMIM:619931
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2702	GJA5	OMIM:612474
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2703	GJA8	OMIM:612474
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2744	GLS	OMIM:618339
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6792	CDKL5	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	3736	KCNA1	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	9091	PIGQ	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	81603	TRIM8	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79751	SLC25A22	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	150094	SIK1	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	8573	CASK	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	23312	DMXL2	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	2917	GRM7	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	170302	ARX	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	11284	PNKP	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6326	SCN2A	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	51227	PIGP	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6324	SCN1B	ORPHA:1934
HP:0006919	Abnormal aggressive, impulsive or violent behavior	4761	NEUROD2	ORPHA:1934
HP:0006921	Axial muscle stiffness	4137	MAPT	ORPHA:240085
HP:0006921	Axial muscle stiffness	4137	MAPT	ORPHA:240071
HP:0006958	Abnormal auditory evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0006958	Abnormal auditory evoked potentials	9750	RIPOR2	OMIM:616515
HP:0006958	Abnormal auditory evoked potentials	9381	OTOF	OMIM:601071
HP:0006958	Abnormal auditory evoked potentials	7841	MOGS	ORPHA:79330
HP:0006958	Abnormal auditory evoked potentials	4747	NEFL	ORPHA:101085
HP:0006958	Abnormal auditory evoked potentials	6663	SOX10	OMIM:609136
HP:0006958	Abnormal auditory evoked potentials	57731	SPTBN4	OMIM:617519
HP:0006958	Abnormal auditory evoked potentials	2072	ERCC4	ORPHA:90321
HP:0006958	Abnormal auditory evoked potentials	79628	SH3TC2	OMIM:601596
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206443
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206448
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206436
HP:0006958	Abnormal auditory evoked potentials	5660	PSAP	ORPHA:206436
HP:0006958	Abnormal auditory evoked potentials	51501	HIKESHI	OMIM:616881
HP:0006958	Abnormal auditory evoked potentials	10682	EBP	ORPHA:401973
HP:0006958	Abnormal auditory evoked potentials	64802	NMNAT1	OMIM:619260
HP:0006958	Abnormal auditory evoked potentials	2074	ERCC6	OMIM:133540
HP:0006958	Abnormal auditory evoked potentials	1910	EDNRB	OMIM:600501
HP:0006958	Abnormal auditory evoked potentials	10397	NDRG1	OMIM:601455
HP:0006958	Abnormal auditory evoked potentials	81624	DIAPH3	OMIM:609129
HP:0006958	Abnormal auditory evoked potentials	4621	MYH3	OMIM:193700
HP:0006958	Abnormal auditory evoked potentials	57165	GJC2	ORPHA:320401
HP:0006958	Abnormal auditory evoked potentials	1593	CYP27A1	ORPHA:909
HP:0006958	Abnormal auditory evoked potentials	9181	ARHGEF2	OMIM:617523
HP:0006958	Abnormal auditory evoked potentials	4976	OPA1	OMIM:125250
HP:0006958	Abnormal auditory evoked potentials	1161	ERCC8	OMIM:216400
HP:0006958	Abnormal auditory evoked potentials	4001	LMNB1	ORPHA:99027
HP:0006958	Abnormal auditory evoked potentials	8898	MTMR2	OMIM:601382
HP:0006927	Unilateral polymicrogyria	347733	TUBB2B	OMIM:610031
HP:0100275	Diffuse cerebellar atrophy	547	KIF1A	ORPHA:101010
HP:0100275	Diffuse cerebellar atrophy	87178	PNPT1	ORPHA:101111
HP:0100275	Diffuse cerebellar atrophy	1600	DAB1	ORPHA:363710
HP:0100275	Diffuse cerebellar atrophy	79587	CARS2	ORPHA:477774
HP:0100275	Diffuse cerebellar atrophy	25828	TXN2	ORPHA:478029
HP:0100275	Diffuse cerebellar atrophy	57465	TBC1D24	ORPHA:352596
HP:0100275	Diffuse cerebellar atrophy	686	BTD	OMIM:253260
HP:0100275	Diffuse cerebellar atrophy	3708	ITPR1	OMIM:117360
HP:0100275	Diffuse cerebellar atrophy	819	CAMLG	OMIM:620201
HP:0100275	Diffuse cerebellar atrophy	404672	GTF2H5	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	833	CARS1	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	2068	ERCC2	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	7737	RNF113A	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	136647	MPLKIP	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	6897	TARS1	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	2071	ERCC3	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	2961	GTF2E2	ORPHA:33364
HP:0100275	Diffuse cerebellar atrophy	23065	EMC1	ORPHA:480898
HP:0100275	Diffuse cerebellar atrophy	2332	FMR1	ORPHA:93256
HP:0100275	Diffuse cerebellar atrophy	5192	PEX10	ORPHA:247815
HP:0006929	Hypoglycemic encephalopathy	3033	HADH	OMIM:231530
HP:0006929	Hypoglycemic encephalopathy	3033	HADH	ORPHA:71212
HP:0006929	Hypoglycemic encephalopathy	1376	CPT2	ORPHA:228305
HP:0006929	Hypoglycemic encephalopathy	35	ACADS	ORPHA:26792
HP:0006930	Frontoparietal cortical dysplasia	347733	TUBB2B	OMIM:610031
HP:0006931	Pericallosal lipoma	257	ALX3	OMIM:136760
HP:0006931	Pericallosal lipoma	257	ALX3	ORPHA:391474
HP:0006931	Pericallosal lipoma	8092	ALX1	ORPHA:306542
HP:0006931	Pericallosal lipoma	57688	ZSWIM6	OMIM:603671
HP:0006934	Congenital nystagmus	5080	PAX6	OMIM:136520
HP:0006934	Congenital nystagmus	5080	PAX6	ORPHA:2334
HP:0006934	Congenital nystagmus	2898	GRIK2	OMIM:619580
HP:0006934	Congenital nystagmus	84343	HPS3	OMIM:614072
HP:0006934	Congenital nystagmus	5393	EXOSC9	OMIM:618065
HP:0006934	Congenital nystagmus	55503	TRPV6	OMIM:618188
HP:0006934	Congenital nystagmus	4041	LRP5	ORPHA:2788
HP:0006934	Congenital nystagmus	80055	PGAP1	OMIM:615802
HP:0006934	Congenital nystagmus	3852	KRT5	ORPHA:79396
HP:0006934	Congenital nystagmus	3861	KRT14	ORPHA:79396
HP:0006934	Congenital nystagmus	3166	HMX1	OMIM:612109
HP:0006934	Congenital nystagmus	526	ATP6V1B2	ORPHA:79500
HP:0006934	Congenital nystagmus	57465	TBC1D24	ORPHA:79500
HP:0006934	Congenital nystagmus	90167	FRMD7	OMIM:310700
HP:0006934	Congenital nystagmus	6091	ROBO1	OMIM:257400
HP:0006934	Congenital nystagmus	54664	TMEM106B	OMIM:617964
HP:0006934	Congenital nystagmus	9181	ARHGEF2	OMIM:617523
HP:0006934	Congenital nystagmus	54714	CNGB3	OMIM:262300
HP:0006934	Congenital nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0006934	Congenital nystagmus	23636	NUP62	ORPHA:225154
HP:0006934	Congenital nystagmus	103	ADAR	ORPHA:225154
HP:0006937	Impaired distal tactile sensation	7879	RAB7A	OMIM:600882
HP:0006937	Impaired distal tactile sensation	10558	SPTLC1	OMIM:162400
HP:0006937	Impaired distal tactile sensation	10558	SPTLC1	ORPHA:36386
HP:0006937	Impaired distal tactile sensation	54332	GDAP1	OMIM:607706
HP:0006937	Impaired distal tactile sensation	54332	GDAP1	ORPHA:99948
HP:0006937	Impaired distal tactile sensation	51816	ADA2	OMIM:182410
HP:0006937	Impaired distal tactile sensation	10397	NDRG1	OMIM:601455
HP:0006937	Impaired distal tactile sensation	87178	PNPT1	ORPHA:101111
HP:0006937	Impaired distal tactile sensation	5428	POLG	OMIM:607459
HP:0006937	Impaired distal tactile sensation	56652	TWNK	OMIM:607459
HP:0006937	Impaired distal tactile sensation	55958	KLHL9	ORPHA:399081
HP:0006937	Impaired distal tactile sensation	4358	MPV17	OMIM:618400
HP:0006937	Impaired distal tactile sensation	91574	MTRFR	OMIM:615035
HP:0006937	Impaired distal tactile sensation	22880	MORC2	OMIM:616688
HP:0006937	Impaired distal tactile sensation	7415	VCP	OMIM:616687
HP:0006937	Impaired distal tactile sensation	50717	DCAF8	OMIM:610100
HP:0006937	Impaired distal tactile sensation	3035	HARS1	ORPHA:488333
HP:0006937	Impaired distal tactile sensation	50846	DHH	OMIM:607080
HP:0006937	Impaired distal tactile sensation	23064	SETX	OMIM:606002
HP:0006937	Impaired distal tactile sensation	6310	ATXN1	OMIM:164400
HP:0006937	Impaired distal tactile sensation	26580	BSCL2	OMIM:270685
HP:0006937	Impaired distal tactile sensation	25923	ATL3	ORPHA:36386
HP:0006937	Impaired distal tactile sensation	9517	SPTLC2	ORPHA:36386
HP:0006937	Impaired distal tactile sensation	51062	ATL1	ORPHA:36386
HP:0006938	Impaired vibration sensation at ankles	3752	KCND3	ORPHA:98772
HP:0006938	Impaired vibration sensation at ankles	5832	ALDH18A1	ORPHA:447760
HP:0006938	Impaired vibration sensation at ankles	2583	B4GALNT1	ORPHA:101006
HP:0006938	Impaired vibration sensation at ankles	23111	SPART	OMIM:275900
HP:0006938	Impaired vibration sensation at ankles	215	ABCD1	OMIM:300100
HP:0006938	Impaired vibration sensation at ankles	51308	REEP2	ORPHA:401849
HP:0006938	Impaired vibration sensation at ankles	7504	XK	OMIM:300842
HP:0006938	Impaired vibration sensation at ankles	8913	CACNA1G	ORPHA:458803
HP:0006938	Impaired vibration sensation at ankles	8913	CACNA1G	OMIM:616795
HP:0006938	Impaired vibration sensation at ankles	7345	UCHL1	OMIM:615491
HP:0006938	Impaired vibration sensation at ankles	6683	SPAST	ORPHA:100985
HP:0006938	Impaired vibration sensation at ankles	271	AMPD2	OMIM:615686
HP:0006938	Impaired vibration sensation at ankles	57704	GBA2	ORPHA:320391
HP:0006938	Impaired vibration sensation at ankles	5582	PRKCG	OMIM:605361
HP:0001271	Polyneuropathy	2074	ERCC6	OMIM:133540
HP:0001271	Polyneuropathy	55768	NGLY1	OMIM:615273
HP:0001271	Polyneuropathy	7384	UQCRC1	OMIM:619279
HP:0001271	Polyneuropathy	9420	CYP7B1	ORPHA:100986
HP:0001271	Polyneuropathy	5193	PEX12	OMIM:266510
HP:0001271	Polyneuropathy	23345	SYNE1	ORPHA:88644
HP:0001271	Polyneuropathy	6711	SPTBN1	OMIM:619475
HP:0001271	Polyneuropathy	5702	PSMC3	OMIM:619354
HP:0001271	Polyneuropathy	2517	FUCA1	OMIM:230000
HP:0001271	Polyneuropathy	50846	DHH	OMIM:607080
HP:0001271	Polyneuropathy	50846	DHH	ORPHA:168563
HP:0001271	Polyneuropathy	22934	RPIA	OMIM:608611
HP:0001271	Polyneuropathy	5660	PSAP	OMIM:249900
HP:0001271	Polyneuropathy	57465	TBC1D24	OMIM:220500
HP:0001271	Polyneuropathy	7276	TTR	ORPHA:85447
HP:0001271	Polyneuropathy	7276	TTR	ORPHA:85451
HP:0001271	Polyneuropathy	7276	TTR	OMIM:105210
HP:0001271	Polyneuropathy	2934	GSN	ORPHA:85448
HP:0001271	Polyneuropathy	2934	GSN	OMIM:105120
HP:0001271	Polyneuropathy	25814	ATXN10	OMIM:603516
HP:0001271	Polyneuropathy	10229	COQ7	OMIM:616733
HP:0001271	Polyneuropathy	1910	EDNRB	OMIM:277580
HP:0001271	Polyneuropathy	2911	GRM1	OMIM:614831
HP:0001271	Polyneuropathy	2911	GRM1	ORPHA:324262
HP:0001271	Polyneuropathy	4976	OPA1	OMIM:125250
HP:0001271	Polyneuropathy	540	ATP7B	OMIM:277900
HP:0001271	Polyneuropathy	5191	PEX7	OMIM:614879
HP:0001271	Polyneuropathy	1161	ERCC8	OMIM:216400
HP:0001271	Polyneuropathy	9516	LITAF	OMIM:601098
HP:0001271	Polyneuropathy	2729	GCLC	OMIM:230450
HP:0001271	Polyneuropathy	23204	ARL6IP1	ORPHA:401780
HP:0001271	Polyneuropathy	11155	LDB3	OMIM:609452
HP:0001271	Polyneuropathy	9342	SNAP29	OMIM:609528
HP:0001271	Polyneuropathy	210	ALAD	ORPHA:100924
HP:0001271	Polyneuropathy	5631	PRPS1	OMIM:311070
HP:0001271	Polyneuropathy	966	CD59	OMIM:612300
HP:0001271	Polyneuropathy	162417	NAGS	ORPHA:927
HP:0001271	Polyneuropathy	55157	DARS2	ORPHA:137898
HP:0001271	Polyneuropathy	5173	PDYN	OMIM:610245
HP:0001271	Polyneuropathy	8799	PEX11B	OMIM:614920
HP:0001271	Polyneuropathy	3117	HLA-DQA1	OMIM:212750
HP:0001271	Polyneuropathy	3119	HLA-DQB1	OMIM:212750
HP:0001271	Polyneuropathy	91574	MTRFR	OMIM:613559
HP:0001271	Polyneuropathy	9499	MYOT	OMIM:609200
HP:0001271	Polyneuropathy	1716	DGUOK	OMIM:251880
HP:0001271	Polyneuropathy	215	ABCD1	OMIM:300100
HP:0001271	Polyneuropathy	54968	TMEM70	OMIM:614052
HP:0001271	Polyneuropathy	4615	MYD88	OMIM:153600
HP:0001271	Polyneuropathy	23312	DMXL2	OMIM:616113
HP:0001271	Polyneuropathy	9131	AIFM1	OMIM:300816
HP:0001271	Polyneuropathy	10801	SEPTIN9	ORPHA:2901
HP:0001271	Polyneuropathy	84668	HYCC1	OMIM:610532
HP:0001271	Polyneuropathy	4771	NF2	ORPHA:637
HP:0001271	Polyneuropathy	23064	SETX	OMIM:606002
HP:0001271	Polyneuropathy	4514	MT-CO3	OMIM:535000
HP:0001271	Polyneuropathy	4519	MT-CYB	OMIM:535000
HP:0001271	Polyneuropathy	4541	MT-ND6	OMIM:535000
HP:0001271	Polyneuropathy	4540	MT-ND5	OMIM:535000
HP:0001271	Polyneuropathy	4508	MT-ATP6	OMIM:535000
HP:0001271	Polyneuropathy	4539	MT-ND4L	OMIM:535000
HP:0001271	Polyneuropathy	4535	MT-ND1	OMIM:535000
HP:0001271	Polyneuropathy	4536	MT-ND2	OMIM:535000
HP:0001271	Polyneuropathy	4538	MT-ND4	OMIM:535000
HP:0001271	Polyneuropathy	4763	NF1	ORPHA:97685
HP:0001271	Polyneuropathy	5373	PMM2	OMIM:212065
HP:0001271	Polyneuropathy	9990	SLC12A6	OMIM:218000
HP:0000020	Urinary incontinence	55906	ZC4H2	OMIM:301041
HP:0000020	Urinary incontinence	6513	SLC2A1	ORPHA:64280
HP:0000020	Urinary incontinence	2562	GABRB3	ORPHA:64280
HP:0000020	Urinary incontinence	2554	GABRA1	ORPHA:64280
HP:0000020	Urinary incontinence	8912	CACNA1H	ORPHA:64280
HP:0000020	Urinary incontinence	8629	JRK	ORPHA:64280
HP:0000020	Urinary incontinence	2566	GABRG2	ORPHA:64280
HP:0000020	Urinary incontinence	23394	ADNP	ORPHA:404448
HP:0000020	Urinary incontinence	9897	WASHC5	ORPHA:100989
HP:0000020	Urinary incontinence	9897	WASHC5	OMIM:603563
HP:0000020	Urinary incontinence	10466	COG5	ORPHA:263487
HP:0000020	Urinary incontinence	340533	NEXMIF	OMIM:300912
HP:0000020	Urinary incontinence	23345	SYNE1	ORPHA:88644
HP:0000020	Urinary incontinence	123606	NIPA1	ORPHA:100988
HP:0000020	Urinary incontinence	123606	NIPA1	OMIM:600363
HP:0000020	Urinary incontinence	23446	SLC44A1	OMIM:618868
HP:0000020	Urinary incontinence	59341	TRPV4	OMIM:606071
HP:0000020	Urinary incontinence	22880	MORC2	OMIM:616688
HP:0000020	Urinary incontinence	22880	MORC2	ORPHA:466768
HP:0000020	Urinary incontinence	57704	GBA2	ORPHA:352641
HP:0000020	Urinary incontinence	57704	GBA2	ORPHA:320391
HP:0000020	Urinary incontinence	57704	GBA2	OMIM:614409
HP:0000020	Urinary incontinence	1786	DNMT1	ORPHA:314404
HP:0000020	Urinary incontinence	4803	NGF	OMIM:608654
HP:0000020	Urinary incontinence	57216	VANGL2	OMIM:182940
HP:0000020	Urinary incontinence	6347	CCL2	OMIM:182940
HP:0000020	Urinary incontinence	81839	VANGL1	OMIM:182940
HP:0000020	Urinary incontinence	6862	TBXT	OMIM:182940
HP:0000020	Urinary incontinence	80199	FUZ	OMIM:182940
HP:0000020	Urinary incontinence	27235	COQ2	OMIM:146500
HP:0000020	Urinary incontinence	274	BIN1	ORPHA:169189
HP:0000020	Urinary incontinence	64419	MTMR14	ORPHA:169189
HP:0000020	Urinary incontinence	4618	MYF6	ORPHA:169189
HP:0000020	Urinary incontinence	1785	DNM2	ORPHA:169189
HP:0000020	Urinary incontinence	6261	RYR1	ORPHA:169189
HP:0000020	Urinary incontinence	5660	PSAP	OMIM:249900
HP:0000020	Urinary incontinence	5660	PSAP	ORPHA:309271
HP:0000020	Urinary incontinence	5660	PSAP	ORPHA:309263
HP:0000020	Urinary incontinence	5660	PSAP	ORPHA:309256
HP:0000020	Urinary incontinence	3074	HEXB	ORPHA:309162
HP:0000020	Urinary incontinence	3074	HEXB	OMIM:268800
HP:0000020	Urinary incontinence	10479	SLC9A6	OMIM:300243
HP:0000020	Urinary incontinence	81790	RNF170	OMIM:619686
HP:0000020	Urinary incontinence	25814	ATXN10	OMIM:603516
HP:0000020	Urinary incontinence	6311	ATXN2	OMIM:183090
HP:0000020	Urinary incontinence	6335	SCN9A	OMIM:243000
HP:0000020	Urinary incontinence	8878	SQSTM1	OMIM:617145
HP:0000020	Urinary incontinence	5610	EIF2AK2	OMIM:618877
HP:0000020	Urinary incontinence	128486	FITM2	OMIM:618635
HP:0000020	Urinary incontinence	2581	GALC	ORPHA:206448
HP:0000020	Urinary incontinence	3508	IGHMBP2	OMIM:604320
HP:0000020	Urinary incontinence	100996717	NOTCH2NLC	OMIM:603472
HP:0000020	Urinary incontinence	6904	TBCD	ORPHA:496641
HP:0000020	Urinary incontinence	6904	TBCD	OMIM:617193
HP:0000020	Urinary incontinence	90161	HS6ST2	OMIM:301025
HP:0000020	Urinary incontinence	410	ARSA	ORPHA:309271
HP:0000020	Urinary incontinence	410	ARSA	ORPHA:309263
HP:0000020	Urinary incontinence	410	ARSA	ORPHA:309256
HP:0000020	Urinary incontinence	410	ARSA	OMIM:250100
HP:0000020	Urinary incontinence	2590	GALNT2	OMIM:618885
HP:0000020	Urinary incontinence	5832	ALDH18A1	OMIM:616586
HP:0000020	Urinary incontinence	5832	ALDH18A1	OMIM:601162
HP:0000020	Urinary incontinence	5832	ALDH18A1	ORPHA:447753
HP:0000020	Urinary incontinence	215	ABCD1	ORPHA:139399
HP:0000020	Urinary incontinence	215	ABCD1	OMIM:300100
HP:0000020	Urinary incontinence	51319	RSRC1	OMIM:618402
HP:0000020	Urinary incontinence	54463	RETREG1	OMIM:613115
HP:0000020	Urinary incontinence	6575	SLC20A2	OMIM:213600
HP:0000020	Urinary incontinence	5155	PDGFB	OMIM:213600
HP:0000020	Urinary incontinence	5155	PDGFB	ORPHA:2495
HP:0000020	Urinary incontinence	5159	PDGFRB	OMIM:213600
HP:0000020	Urinary incontinence	549	AUH	OMIM:250950
HP:0000020	Urinary incontinence	80208	SPG11	OMIM:602099
HP:0000020	Urinary incontinence	80208	SPG11	ORPHA:300605
HP:0000020	Urinary incontinence	80208	SPG11	OMIM:604360
HP:0000020	Urinary incontinence	7276	TTR	OMIM:105210
HP:0000020	Urinary incontinence	823	CAPN1	OMIM:616907
HP:0000020	Urinary incontinence	10273	STUB1	OMIM:618093
HP:0000020	Urinary incontinence	2632	GBE1	ORPHA:206583
HP:0000020	Urinary incontinence	2632	GBE1	OMIM:263570
HP:0000020	Urinary incontinence	1137	CHRNA4	ORPHA:98784
HP:0000020	Urinary incontinence	1135	CHRNA2	ORPHA:98784
HP:0000020	Urinary incontinence	57010	CABP4	ORPHA:98784
HP:0000020	Urinary incontinence	1141	CHRNB2	ORPHA:98784
HP:0000020	Urinary incontinence	57582	KCNT1	ORPHA:98784
HP:0000020	Urinary incontinence	1392	CRH	ORPHA:98784
HP:0000020	Urinary incontinence	9681	DEPDC5	ORPHA:98784
HP:0000020	Urinary incontinence	57531	HACE1	ORPHA:464282
HP:0000020	Urinary incontinence	9420	CYP7B1	OMIM:270800
HP:0000020	Urinary incontinence	6687	SPG7	OMIM:607259
HP:0000020	Urinary incontinence	26278	SACS	ORPHA:98
HP:0000020	Urinary incontinence	9839	ZEB2	ORPHA:261552
HP:0000020	Urinary incontinence	9839	ZEB2	ORPHA:261537
HP:0000020	Urinary incontinence	2332	FMR1	OMIM:300623
HP:0000020	Urinary incontinence	23400	ATP13A2	ORPHA:306674
HP:0000020	Urinary incontinence	9860	LRIG2	ORPHA:2704
HP:0000020	Urinary incontinence	60495	HPSE2	ORPHA:2704
HP:0000020	Urinary incontinence	9907	AP5Z1	OMIM:613647
HP:0000020	Urinary incontinence	9907	AP5Z1	ORPHA:306511
HP:0000020	Urinary incontinence	79152	FA2H	OMIM:612319
HP:0000020	Urinary incontinence	79152	FA2H	ORPHA:171629
HP:0000020	Urinary incontinence	4747	NEFL	ORPHA:101085
HP:0000020	Urinary incontinence	6908	TBP	OMIM:607136
HP:0000020	Urinary incontinence	4854	NOTCH3	OMIM:125310
HP:0000020	Urinary incontinence	28982	FLVCR1	OMIM:609033
HP:0000020	Urinary incontinence	3752	KCND3	ORPHA:98772
HP:0000020	Urinary incontinence	7840	ALMS1	ORPHA:64
HP:0000020	Urinary incontinence	2261	FGFR3	OMIM:616482
HP:0000020	Urinary incontinence	56978	PRDM8	OMIM:616640
HP:0000020	Urinary incontinence	23259	DDHD2	OMIM:615033
HP:0000020	Urinary incontinence	2548	GAA	OMIM:232300
HP:0000020	Urinary incontinence	92609	TIMM50	OMIM:617698
HP:0000020	Urinary incontinence	92609	TIMM50	ORPHA:505216
HP:0000020	Urinary incontinence	8314	BAP1	ORPHA:2495
HP:0000020	Urinary incontinence	4771	NF2	ORPHA:2495
HP:0000020	Urinary incontinence	6598	SMARCB1	ORPHA:2495
HP:0000020	Urinary incontinence	84231	TRAF7	ORPHA:2495
HP:0000020	Urinary incontinence	6608	SMO	ORPHA:2495
HP:0000020	Urinary incontinence	207	AKT1	ORPHA:2495
HP:0000020	Urinary incontinence	5290	PIK3CA	ORPHA:2495
HP:0000020	Urinary incontinence	7015	TERT	ORPHA:2495
HP:0000020	Urinary incontinence	51684	SUFU	ORPHA:2495
HP:0000020	Urinary incontinence	6605	SMARCE1	ORPHA:2495
HP:0000020	Urinary incontinence	54796	BNC2	ORPHA:93110
HP:0000020	Urinary incontinence	54796	BNC2	OMIM:618612
HP:0000020	Urinary incontinence	3748	KCNC3	ORPHA:98768
HP:0000020	Urinary incontinence	80025	PANK2	OMIM:234200
HP:0000020	Urinary incontinence	724066	ATXN8	ORPHA:98760
HP:0000020	Urinary incontinence	6315	ATXN8OS	ORPHA:98760
HP:0000020	Urinary incontinence	23503	ZFYVE26	OMIM:270700
HP:0000020	Urinary incontinence	51611	DPH5	OMIM:620070
HP:0000020	Urinary incontinence	283446	MYO1H	OMIM:619482
HP:0000020	Urinary incontinence	2521	FUS	ORPHA:300605
HP:0000020	Urinary incontinence	10280	SIGMAR1	ORPHA:300605
HP:0000020	Urinary incontinence	10558	SPTLC1	ORPHA:300605
HP:0000020	Urinary incontinence	57679	ALS2	ORPHA:300605
HP:0000020	Urinary incontinence	57679	ALS2	OMIM:205100
HP:0000020	Urinary incontinence	57679	ALS2	OMIM:607225
HP:0000020	Urinary incontinence	6305	SBF1	OMIM:615284
HP:0000020	Urinary incontinence	7750	ZMYM2	OMIM:619522
HP:0000020	Urinary incontinence	7204	TRIO	ORPHA:476126
HP:0000020	Urinary incontinence	6253	RTN2	OMIM:604805
HP:0000020	Urinary incontinence	6253	RTN2	ORPHA:100993
HP:0000020	Urinary incontinence	3145	HMBS	OMIM:176000
HP:0000020	Urinary incontinence	3145	HMBS	ORPHA:79276
HP:0000020	Urinary incontinence	10667	FARS2	ORPHA:466722
HP:0000020	Urinary incontinence	25978	CHMP2B	OMIM:600795
HP:0000020	Urinary incontinence	8913	CACNA1G	ORPHA:458803
HP:0000020	Urinary incontinence	8913	CACNA1G	OMIM:616795
HP:0000020	Urinary incontinence	339855	KY	OMIM:617114
HP:0000020	Urinary incontinence	1315	COPB1	OMIM:619255
HP:0000020	Urinary incontinence	7415	VCP	ORPHA:329478
HP:0000020	Urinary incontinence	22943	DKK1	ORPHA:268882
HP:0000020	Urinary incontinence	2678	GGT1	OMIM:231950
HP:0000020	Urinary incontinence	3329	HSPD1	OMIM:605280
HP:0000020	Urinary incontinence	3329	HSPD1	ORPHA:100994
HP:0000020	Urinary incontinence	8799	PEX11B	OMIM:614920
HP:0000020	Urinary incontinence	9757	KMT2B	OMIM:619934
HP:0000020	Urinary incontinence	6683	SPAST	OMIM:182601
HP:0000020	Urinary incontinence	51062	ATL1	OMIM:182600
HP:0000020	Urinary incontinence	3110	MNX1	OMIM:176450
HP:0000020	Urinary incontinence	6509	SLC1A4	ORPHA:447997
HP:0000020	Urinary incontinence	84188	FAR1	ORPHA:447753
HP:0000020	Urinary incontinence	84978	FRMD5	OMIM:620094
HP:0000020	Urinary incontinence	51271	UBAP1	ORPHA:100993
HP:0000020	Urinary incontinence	5654	HTRA1	OMIM:600142
HP:0000020	Urinary incontinence	126129	CPT1C	ORPHA:444099
HP:0000020	Urinary incontinence	80217	CFAP43	OMIM:236690
HP:0000020	Urinary incontinence	7305	TYROBP	OMIM:221770
HP:0000020	Urinary incontinence	170302	ARX	OMIM:300419
HP:0000020	Urinary incontinence	57165	GJC2	OMIM:613206
HP:0000020	Urinary incontinence	3798	KIF5A	OMIM:604187
HP:0000020	Urinary incontinence	55081	IFT57	OMIM:617927
HP:0000020	Urinary incontinence	1188	CLCNKB	ORPHA:358
HP:0000020	Urinary incontinence	6559	SLC12A3	ORPHA:358
HP:0000020	Urinary incontinence	3119	HLA-DQB1	OMIM:126200
HP:0000020	Urinary incontinence	5133	PDCD1	OMIM:126200
HP:0000020	Urinary incontinence	3123	HLA-DRB1	OMIM:126200
HP:0006943	Diffuse spongiform leukoencephalopathy	5621	PRNP	ORPHA:282166
HP:0006943	Diffuse spongiform leukoencephalopathy	220296	HEPACAM	OMIM:604004
HP:0006943	Diffuse spongiform leukoencephalopathy	23209	MLC1	OMIM:604004
HP:0006944	Abolished vibration sense	7415	VCP	ORPHA:435387
HP:0006944	Abolished vibration sense	87178	PNPT1	OMIM:608703
HP:0006944	Abolished vibration sense	9990	SLC12A6	OMIM:620068
HP:0006944	Abolished vibration sense	80821	DDHD1	ORPHA:101008
HP:0006946	Recurrent meningitis	7454	WAS	OMIM:301000
HP:0006946	Recurrent meningitis	3426	CFI	OMIM:610984
HP:0006946	Recurrent meningitis	4615	MYD88	OMIM:612260
HP:0006946	Recurrent meningitis	3561	IL2RG	OMIM:300400
HP:0007335	Recurrent encephalopathy	1374	CPT1A	OMIM:255120
HP:0007105	Infantile encephalopathy	55704	CCDC88A	OMIM:617507
HP:0007105	Infantile encephalopathy	728294	D2HGDH	OMIM:600721
HP:0007105	Infantile encephalopathy	7084	TK2	ORPHA:254875
HP:0007105	Infantile encephalopathy	80704	SLC19A3	ORPHA:263410
HP:0007105	Infantile encephalopathy	283989	TSEN54	OMIM:225753
HP:0007105	Infantile encephalopathy	9326	ZNHIT3	OMIM:260565
HP:0007105	Infantile encephalopathy	6812	STXBP1	OMIM:612164
HP:0007105	Infantile encephalopathy	2639	GCDH	OMIM:231670
HP:0006949	Episodic peripheral neuropathy	2184	FAH	OMIM:276700
HP:0006951	Retrocerebellar cyst	4983	OPHN1	OMIM:300486
HP:0006951	Retrocerebellar cyst	4983	OPHN1	ORPHA:137831
HP:0006951	Retrocerebellar cyst	5159	PDGFRB	OMIM:601812
HP:0006951	Retrocerebellar cyst	2892	GRIA3	ORPHA:364028
HP:0006951	Retrocerebellar cyst	160418	TMTC3	OMIM:617255
HP:0006951	Retrocerebellar cyst	27245	AHDC1	ORPHA:412069
HP:0006951	Retrocerebellar cyst	27245	AHDC1	OMIM:615829
HP:0006951	Retrocerebellar cyst	2911	GRM1	OMIM:614831
HP:0006951	Retrocerebellar cyst	57688	ZSWIM6	ORPHA:1827
HP:0006951	Retrocerebellar cyst	57688	ZSWIM6	OMIM:603671
HP:0006951	Retrocerebellar cyst	57572	DOCK6	OMIM:614219
HP:0006951	Retrocerebellar cyst	57231	SNX14	ORPHA:397709
HP:0001288	Gait disturbance	4524	MTHFR	ORPHA:395
HP:0001288	Gait disturbance	4524	MTHFR	OMIM:236250
HP:0001288	Gait disturbance	8518	ELP1	ORPHA:1764
HP:0001288	Gait disturbance	2720	GLB1	OMIM:230600
HP:0001288	Gait disturbance	84334	COA8	ORPHA:436271
HP:0001288	Gait disturbance	347733	TUBB2B	ORPHA:1766
HP:0001288	Gait disturbance	767	CA8	ORPHA:1766
HP:0001288	Gait disturbance	4072	EPCAM	ORPHA:144
HP:0001288	Gait disturbance	4292	MLH1	ORPHA:144
HP:0001288	Gait disturbance	5395	PMS2	ORPHA:144
HP:0001288	Gait disturbance	27030	MLH3	ORPHA:144
HP:0001288	Gait disturbance	22909	FAN1	ORPHA:144
HP:0001288	Gait disturbance	7048	TGFBR2	ORPHA:144
HP:0001288	Gait disturbance	3845	KRAS	ORPHA:144
HP:0001288	Gait disturbance	2956	MSH6	ORPHA:144
HP:0001288	Gait disturbance	5378	PMS1	ORPHA:144
HP:0001288	Gait disturbance	4436	MSH2	ORPHA:144
HP:0001288	Gait disturbance	4552	MTRR	OMIM:236270
HP:0001288	Gait disturbance	5631	PRPS1	ORPHA:99014
HP:0001288	Gait disturbance	5631	PRPS1	OMIM:311070
HP:0001288	Gait disturbance	64218	SEMA4A	ORPHA:440437
HP:0001288	Gait disturbance	657	BMPR1A	ORPHA:440437
HP:0001288	Gait disturbance	6224	RPS20	ORPHA:440437
HP:0001288	Gait disturbance	23322	RPGRIP1L	ORPHA:220497
HP:0001288	Gait disturbance	23322	RPGRIP1L	ORPHA:1454
HP:0001288	Gait disturbance	4867	NPHP1	ORPHA:220497
HP:0001288	Gait disturbance	65062	TMEM237	ORPHA:220497
HP:0001288	Gait disturbance	65062	TMEM237	ORPHA:475
HP:0001288	Gait disturbance	54806	AHI1	ORPHA:220493
HP:0001288	Gait disturbance	54806	AHI1	ORPHA:475
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:220493
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:475
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:1454
HP:0001288	Gait disturbance	153241	CEP120	ORPHA:220493
HP:0001288	Gait disturbance	153241	CEP120	ORPHA:475
HP:0001288	Gait disturbance	54903	MKS1	ORPHA:220493
HP:0001288	Gait disturbance	54903	MKS1	ORPHA:475
HP:0001288	Gait disturbance	95681	CEP41	ORPHA:220493
HP:0001288	Gait disturbance	95681	CEP41	ORPHA:475
HP:0001288	Gait disturbance	348	APOE	OMIM:607822
HP:0001288	Gait disturbance	5663	PSEN1	OMIM:607822
HP:0001288	Gait disturbance	5663	PSEN1	ORPHA:275864
HP:0001288	Gait disturbance	57589	RIC1	OMIM:618761
HP:0001288	Gait disturbance	2697	GJA1	ORPHA:2710
HP:0001288	Gait disturbance	8726	EED	OMIM:617561
HP:0001288	Gait disturbance	10715	CERS1	OMIM:616230
HP:0001288	Gait disturbance	11107	PRDM5	OMIM:614170
HP:0001288	Gait disturbance	11107	PRDM5	ORPHA:90354
HP:0001288	Gait disturbance	8789	FBP2	OMIM:619864
HP:0001288	Gait disturbance	83636	C19orf12	OMIM:614298
HP:0001288	Gait disturbance	83636	C19orf12	OMIM:615043
HP:0001288	Gait disturbance	88	ACTN2	OMIM:618655
HP:0001288	Gait disturbance	7471	WNT1	ORPHA:85193
HP:0001288	Gait disturbance	89780	WNT3A	ORPHA:85193
HP:0001288	Gait disturbance	4854	NOTCH3	OMIM:125310
HP:0001288	Gait disturbance	4854	NOTCH3	ORPHA:136
HP:0001288	Gait disturbance	79600	TCTN1	ORPHA:475
HP:0001288	Gait disturbance	79848	CSPP1	ORPHA:475
HP:0001288	Gait disturbance	65250	CPLANE1	ORPHA:475
HP:0001288	Gait disturbance	65250	CPLANE1	ORPHA:2754
HP:0001288	Gait disturbance	91147	TMEM67	ORPHA:475
HP:0001288	Gait disturbance	91147	TMEM67	ORPHA:1454
HP:0001288	Gait disturbance	200894	ARL13B	ORPHA:475
HP:0001288	Gait disturbance	219844	HYLS1	ORPHA:475
HP:0001288	Gait disturbance	23247	KATNIP	ORPHA:475
HP:0001288	Gait disturbance	219854	TMEM218	ORPHA:475
HP:0001288	Gait disturbance	9786	KIAA0586	ORPHA:475
HP:0001288	Gait disturbance	79867	TCTN2	ORPHA:475
HP:0001288	Gait disturbance	79867	TCTN2	OMIM:616654
HP:0001288	Gait disturbance	80776	B9D2	ORPHA:475
HP:0001288	Gait disturbance	10464	PIBF1	ORPHA:475
HP:0001288	Gait disturbance	80210	ARMC9	ORPHA:475
HP:0001288	Gait disturbance	23116	TOGARAM1	ORPHA:475
HP:0001288	Gait disturbance	25776	CBY1	ORPHA:475
HP:0001288	Gait disturbance	403	ARL3	ORPHA:475
HP:0001288	Gait disturbance	8622	PDE8B	ORPHA:228169
HP:0001288	Gait disturbance	8622	PDE8B	OMIM:609161
HP:0001288	Gait disturbance	5590	PRKCZ	ORPHA:1606
HP:0001288	Gait disturbance	2563	GABRD	ORPHA:1606
HP:0001288	Gait disturbance	8510	MMP23B	ORPHA:1606
HP:0001288	Gait disturbance	7798	LUZP1	ORPHA:1606
HP:0001288	Gait disturbance	6497	SKI	ORPHA:1606
HP:0001288	Gait disturbance	10630	PDPN	ORPHA:1606
HP:0001288	Gait disturbance	10277	UBE4B	ORPHA:1606
HP:0001288	Gait disturbance	8514	KCNAB2	ORPHA:1606
HP:0001288	Gait disturbance	473	RERE	ORPHA:1606
HP:0001288	Gait disturbance	63976	PRDM16	ORPHA:1606
HP:0001288	Gait disturbance	54897	CASZ1	ORPHA:1606
HP:0001288	Gait disturbance	148789	B3GALNT2	ORPHA:588
HP:0001288	Gait disturbance	9215	LARGE1	ORPHA:588
HP:0001288	Gait disturbance	55624	POMGNT1	ORPHA:588
HP:0001288	Gait disturbance	8517	IKBKG	ORPHA:464
HP:0001288	Gait disturbance	6305	SBF1	OMIM:615284
HP:0001288	Gait disturbance	6329	SCN4A	OMIM:614198
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:682
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99735
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99736
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99734
HP:0001288	Gait disturbance	6901	TAFAZZIN	OMIM:302060
HP:0001288	Gait disturbance	9338	TCEAL1	OMIM:301094
HP:0001288	Gait disturbance	57192	MCOLN1	ORPHA:578
HP:0001288	Gait disturbance	84627	ZNF469	ORPHA:90354
HP:0001288	Gait disturbance	55164	SHQ1	ORPHA:256
HP:0001288	Gait disturbance	54941	RNF125	OMIM:616260
HP:0001288	Gait disturbance	367	AR	ORPHA:481
HP:0001288	Gait disturbance	5081	PAX7	OMIM:618578
HP:0001288	Gait disturbance	165918	RNF168	ORPHA:420741
HP:0001288	Gait disturbance	10371	SEMA3A	ORPHA:478
HP:0001288	Gait disturbance	81848	SPRY4	ORPHA:478
HP:0001288	Gait disturbance	23767	FLRT3	ORPHA:478
HP:0001288	Gait disturbance	128674	PROKR2	ORPHA:478
HP:0001288	Gait disturbance	79625	NDNF	ORPHA:478
HP:0001288	Gait disturbance	389549	FEZF1	ORPHA:478
HP:0001288	Gait disturbance	3730	ANOS1	ORPHA:478
HP:0001288	Gait disturbance	54756	IL17RD	ORPHA:478
HP:0001288	Gait disturbance	6663	SOX10	ORPHA:478
HP:0001288	Gait disturbance	285025	CCDC141	ORPHA:478
HP:0001288	Gait disturbance	60675	PROK2	ORPHA:478
HP:0001288	Gait disturbance	55636	CHD7	ORPHA:478
HP:0001288	Gait disturbance	1848	DUSP6	ORPHA:478
HP:0001288	Gait disturbance	6870	TACR3	ORPHA:478
HP:0001288	Gait disturbance	55717	WDR11	ORPHA:478
HP:0001288	Gait disturbance	9394	HS6ST1	ORPHA:478
HP:0001288	Gait disturbance	8820	HESX1	ORPHA:478
HP:0001288	Gait disturbance	8822	FGF17	ORPHA:478
HP:0001288	Gait disturbance	149233	IL23R	ORPHA:117
HP:0001288	Gait disturbance	6775	STAT4	ORPHA:117
HP:0001288	Gait disturbance	3586	IL10	ORPHA:117
HP:0001288	Gait disturbance	4210	MEFV	ORPHA:117
HP:0001288	Gait disturbance	1230	CCR1	ORPHA:117
HP:0001288	Gait disturbance	355	FAS	ORPHA:117
HP:0001288	Gait disturbance	3592	IL12A	ORPHA:117
HP:0001288	Gait disturbance	101928376	IL12A-AS1	ORPHA:117
HP:0001288	Gait disturbance	3106	HLA-B	ORPHA:117
HP:0001288	Gait disturbance	7099	TLR4	ORPHA:117
HP:0001288	Gait disturbance	3459	IFNGR1	ORPHA:117
HP:0001288	Gait disturbance	720	C4A	ORPHA:117
HP:0001288	Gait disturbance	337867	UBAC2	ORPHA:117
HP:0001288	Gait disturbance	51752	ERAP1	ORPHA:117
HP:0001288	Gait disturbance	8302	KLRC4	ORPHA:117
HP:0001288	Gait disturbance	4558	MT-TF	ORPHA:550
HP:0001288	Gait disturbance	4572	MT-TQ	ORPHA:550
HP:0001288	Gait disturbance	4513	MT-CO2	ORPHA:550
HP:0001288	Gait disturbance	4574	MT-TS1	ORPHA:550
HP:0001288	Gait disturbance	4575	MT-TS2	ORPHA:550
HP:0001288	Gait disturbance	4564	MT-TH	ORPHA:550
HP:0001288	Gait disturbance	170302	ARX	ORPHA:94083
HP:0001288	Gait disturbance	137682	NDUFAF6	OMIM:618239
HP:0001288	Gait disturbance	351	APP	ORPHA:324708
HP:0001288	Gait disturbance	2632	GBE1	ORPHA:206583
HP:0001288	Gait disturbance	2632	GBE1	OMIM:263570
HP:0001288	Gait disturbance	51102	MECR	OMIM:617282
HP:0001288	Gait disturbance	51102	MECR	ORPHA:508093
HP:0001288	Gait disturbance	5903	RANBP2	ORPHA:88619
HP:0001288	Gait disturbance	2743	GLRB	ORPHA:3197
HP:0001288	Gait disturbance	2741	GLRA1	ORPHA:3197
HP:0001288	Gait disturbance	10243	GPHN	ORPHA:3197
HP:0001288	Gait disturbance	84896	ATAD1	ORPHA:3197
HP:0001288	Gait disturbance	9152	SLC6A5	ORPHA:3197
HP:0001288	Gait disturbance	9757	KMT2B	OMIM:617284
HP:0001288	Gait disturbance	3188	HNRNPH2	OMIM:300986
HP:0001288	Gait disturbance	2475	MTOR	ORPHA:457485
HP:0001288	Gait disturbance	57187	THOC2	ORPHA:457240
HP:0001288	Gait disturbance	57187	THOC2	OMIM:300957
HP:0001288	Gait disturbance	4548	MTR	OMIM:250940
HP:0001288	Gait disturbance	23316	CUX2	OMIM:618141
HP:0001288	Gait disturbance	25978	CHMP2B	OMIM:600795
HP:0001288	Gait disturbance	25978	CHMP2B	ORPHA:275864
HP:0001288	Gait disturbance	26137	ZBTB20	ORPHA:3042
HP:0001288	Gait disturbance	727676	SNORD118	ORPHA:542310
HP:0001288	Gait disturbance	727676	SNORD118	OMIM:614561
HP:0001288	Gait disturbance	80217	CFAP43	OMIM:236690
HP:0001288	Gait disturbance	2896	GRN	ORPHA:275864
HP:0001288	Gait disturbance	54209	TREM2	ORPHA:275864
HP:0001288	Gait disturbance	54209	TREM2	OMIM:618193
HP:0001288	Gait disturbance	2314	FLII	ORPHA:819
HP:0001288	Gait disturbance	23096	IQSEC2	ORPHA:819
HP:0001288	Gait disturbance	4758	NEU1	ORPHA:812
HP:0001288	Gait disturbance	1146	CHRNG	OMIM:265000
HP:0001288	Gait disturbance	1146	CHRNG	ORPHA:2990
HP:0001288	Gait disturbance	84992	PIGY	ORPHA:247262
HP:0001288	Gait disturbance	84720	PIGO	ORPHA:247262
HP:0001288	Gait disturbance	284098	PIGW	ORPHA:247262
HP:0001288	Gait disturbance	55650	PIGV	ORPHA:247262
HP:0001288	Gait disturbance	6575	SLC20A2	OMIM:213600
HP:0001288	Gait disturbance	5159	PDGFRB	OMIM:213600
HP:0001288	Gait disturbance	7274	TTPA	ORPHA:96
HP:0001288	Gait disturbance	7274	TTPA	OMIM:277460
HP:0001288	Gait disturbance	65998	ZFTA	ORPHA:251636
HP:0001288	Gait disturbance	5970	RELA	ORPHA:251636
HP:0001288	Gait disturbance	9896	FIG4	OMIM:611228
HP:0001288	Gait disturbance	57338	JPH3	ORPHA:98934
HP:0001288	Gait disturbance	90624	LYRM7	OMIM:615838
HP:0001288	Gait disturbance	54499	TMCO1	OMIM:213980
HP:0001288	Gait disturbance	25894	PLEKHG4	ORPHA:98765
HP:0001288	Gait disturbance	8106	PABPN1	OMIM:164300
HP:0001288	Gait disturbance	8573	CASK	ORPHA:163937
HP:0001288	Gait disturbance	3300	DNAJB2	OMIM:614881
HP:0001288	Gait disturbance	4313	MMP2	OMIM:259600
HP:0001288	Gait disturbance	60681	FKBP10	ORPHA:1149
HP:0001288	Gait disturbance	55023	PHIP	ORPHA:589905
HP:0001288	Gait disturbance	51142	CHCHD2	OMIM:616710
HP:0001288	Gait disturbance	2316	FLNA	OMIM:309350
HP:0001288	Gait disturbance	137492	VPS37A	OMIM:614898
HP:0001288	Gait disturbance	3720	JARID2	OMIM:620098
HP:0001288	Gait disturbance	579	NKX3-2	OMIM:613330
HP:0001288	Gait disturbance	125988	MICOS13	ORPHA:67047
HP:0001288	Gait disturbance	113179	ADAT3	ORPHA:363528
HP:0001288	Gait disturbance	3920	LAMP2	ORPHA:34587
HP:0001288	Gait disturbance	23732	FRRS1L	OMIM:616981
HP:0001288	Gait disturbance	57545	CC2D2A	ORPHA:1454
HP:0001288	Gait disturbance	953	ENTPD1	ORPHA:401810
HP:0001288	Gait disturbance	953	ENTPD1	OMIM:615683
HP:0001288	Gait disturbance	6197	RPS6KA3	ORPHA:192
HP:0001288	Gait disturbance	7874	USP7	ORPHA:500055
HP:0001288	Gait disturbance	11155	LDB3	ORPHA:98912
HP:0001288	Gait disturbance	27249	MMADHC	ORPHA:79283
HP:0001288	Gait disturbance	4621	MYH3	ORPHA:2990
HP:0001288	Gait disturbance	10210	TOPORS	ORPHA:2754
HP:0001288	Gait disturbance	9851	KIAA0753	ORPHA:2754
HP:0001288	Gait disturbance	26123	TCTN3	ORPHA:2754
HP:0001288	Gait disturbance	5147	PDE6D	ORPHA:2754
HP:0001288	Gait disturbance	51259	TMEM216	ORPHA:2754
HP:0001288	Gait disturbance	8481	OFD1	ORPHA:2754
HP:0001288	Gait disturbance	317662	FAM149B1	ORPHA:2754
HP:0001288	Gait disturbance	374654	KIF7	ORPHA:2754
HP:0001288	Gait disturbance	7305	TYROBP	OMIM:221770
HP:0001288	Gait disturbance	51763	INPP5K	OMIM:617404
HP:0001288	Gait disturbance	23111	SPART	OMIM:275900
HP:0001288	Gait disturbance	23111	SPART	ORPHA:101000
HP:0001288	Gait disturbance	3736	KCNA1	OMIM:160120
HP:0001288	Gait disturbance	3736	KCNA1	ORPHA:972
HP:0001288	Gait disturbance	9897	WASHC5	ORPHA:100989
HP:0001288	Gait disturbance	9897	WASHC5	OMIM:603563
HP:0001288	Gait disturbance	4099	MAG	OMIM:616680
HP:0001288	Gait disturbance	324	APC	ORPHA:261584
HP:0001288	Gait disturbance	123606	NIPA1	OMIM:600363
HP:0001288	Gait disturbance	57156	TMEM63C	OMIM:619966
HP:0001288	Gait disturbance	10166	SLC25A15	ORPHA:415
HP:0001288	Gait disturbance	10166	SLC25A15	OMIM:238970
HP:0001288	Gait disturbance	51204	TACO1	OMIM:619052
HP:0001288	Gait disturbance	65055	REEP1	ORPHA:101011
HP:0001288	Gait disturbance	65055	REEP1	OMIM:610250
HP:0001288	Gait disturbance	118813	ZFYVE27	OMIM:610244
HP:0001288	Gait disturbance	25778	DSTYK	ORPHA:101003
HP:0001288	Gait disturbance	9420	CYP7B1	OMIM:270800
HP:0001288	Gait disturbance	57599	WDR48	ORPHA:401800
HP:0001288	Gait disturbance	80821	DDHD1	ORPHA:101008
HP:0001288	Gait disturbance	9907	AP5Z1	OMIM:613647
HP:0001288	Gait disturbance	9907	AP5Z1	ORPHA:306511
HP:0001288	Gait disturbance	340075	ARSI	ORPHA:401815
HP:0001288	Gait disturbance	57498	KIDINS220	OMIM:617296
HP:0001288	Gait disturbance	2517	FUCA1	OMIM:230000
HP:0001288	Gait disturbance	10613	ERLIN1	ORPHA:401785
HP:0001288	Gait disturbance	10613	ERLIN1	OMIM:615681
HP:0001288	Gait disturbance	23503	ZFYVE26	OMIM:270700
HP:0001288	Gait disturbance	80055	PGAP1	ORPHA:401820
HP:0001288	Gait disturbance	22978	NT5C2	ORPHA:320396
HP:0001288	Gait disturbance	22978	NT5C2	OMIM:613162
HP:0001288	Gait disturbance	6472	SHMT2	OMIM:619121
HP:0001288	Gait disturbance	6253	RTN2	OMIM:604805
HP:0001288	Gait disturbance	6253	RTN2	ORPHA:100993
HP:0001288	Gait disturbance	79971	WLS	OMIM:619648
HP:0001288	Gait disturbance	9101	USP8	ORPHA:401795
HP:0001288	Gait disturbance	3739	KCNA4	OMIM:618284
HP:0001288	Gait disturbance	3329	HSPD1	OMIM:605280
HP:0001288	Gait disturbance	3329	HSPD1	ORPHA:100994
HP:0001288	Gait disturbance	383	ARG1	OMIM:207800
HP:0001288	Gait disturbance	23259	DDHD2	ORPHA:320380
HP:0001288	Gait disturbance	6683	SPAST	OMIM:182601
HP:0001288	Gait disturbance	6843	VAMP1	ORPHA:251282
HP:0001288	Gait disturbance	51663	ZFR	ORPHA:401840
HP:0001288	Gait disturbance	51271	UBAP1	ORPHA:100993
HP:0001288	Gait disturbance	126129	CPT1C	ORPHA:444099
HP:0001288	Gait disturbance	3839	KPNA3	ORPHA:171612
HP:0001288	Gait disturbance	51308	REEP2	ORPHA:401849
HP:0001288	Gait disturbance	51308	REEP2	OMIM:615625
HP:0001288	Gait disturbance	113612	CYP2U1	ORPHA:320411
HP:0001288	Gait disturbance	22948	CCT5	OMIM:256840
HP:0001288	Gait disturbance	2583	B4GALNT1	OMIM:609195
HP:0001288	Gait disturbance	57165	GJC2	OMIM:613206
HP:0001288	Gait disturbance	3798	KIF5A	OMIM:604187
HP:0001288	Gait disturbance	10749	KIF1C	ORPHA:397946
HP:0001288	Gait disturbance	10749	KIF1C	OMIM:611302
HP:0001288	Gait disturbance	5621	PRNP	ORPHA:282166
HP:0001288	Gait disturbance	5621	PRNP	ORPHA:356
HP:0001288	Gait disturbance	5621	PRNP	ORPHA:157941
HP:0001288	Gait disturbance	5621	PRNP	OMIM:123400
HP:0001288	Gait disturbance	5621	PRNP	OMIM:137440
HP:0001288	Gait disturbance	64374	SIL1	OMIM:248800
HP:0001288	Gait disturbance	8450	CUL4B	OMIM:300354
HP:0001288	Gait disturbance	2643	GCH1	OMIM:128230
HP:0001288	Gait disturbance	2643	GCH1	ORPHA:98808
HP:0001288	Gait disturbance	23646	PLD3	OMIM:617770
HP:0001288	Gait disturbance	55703	POLR3B	OMIM:614381
HP:0001288	Gait disturbance	146227	BEAN1	OMIM:117210
HP:0001288	Gait disturbance	146227	BEAN1	ORPHA:217012
HP:0001288	Gait disturbance	2895	GRID2	OMIM:616204
HP:0001288	Gait disturbance	51126	NAA20	OMIM:619717
HP:0001288	Gait disturbance	85300	ATCAY	ORPHA:94122
HP:0001288	Gait disturbance	85300	ATCAY	OMIM:601238
HP:0001288	Gait disturbance	5660	PSAP	OMIM:249900
HP:0001288	Gait disturbance	5660	PSAP	ORPHA:309256
HP:0001288	Gait disturbance	4535	MT-ND1	ORPHA:255210
HP:0001288	Gait disturbance	4536	MT-ND2	ORPHA:255210
HP:0001288	Gait disturbance	4537	MT-ND3	ORPHA:255210
HP:0001288	Gait disturbance	4538	MT-ND4	ORPHA:255210
HP:0001288	Gait disturbance	4567	MT-TL1	ORPHA:255210
HP:0001288	Gait disturbance	4578	MT-TW	ORPHA:255210
HP:0001288	Gait disturbance	4577	MT-TV	ORPHA:255210
HP:0001288	Gait disturbance	4508	MT-ATP6	ORPHA:255210
HP:0001288	Gait disturbance	4508	MT-ATP6	ORPHA:225154
HP:0001288	Gait disturbance	4540	MT-ND5	ORPHA:255210
HP:0001288	Gait disturbance	4541	MT-ND6	ORPHA:255210
HP:0001288	Gait disturbance	4566	MT-TK	ORPHA:255210
HP:0001288	Gait disturbance	4983	OPHN1	OMIM:300486
HP:0001288	Gait disturbance	80232	WDR26	ORPHA:513456
HP:0001288	Gait disturbance	3074	HEXB	ORPHA:309169
HP:0001288	Gait disturbance	10908	PNPLA6	ORPHA:139480
HP:0001288	Gait disturbance	10908	PNPLA6	OMIM:215470
HP:0001288	Gait disturbance	8722	CTSF	OMIM:615362
HP:0001288	Gait disturbance	10528	NOP56	OMIM:614153
HP:0001288	Gait disturbance	283489	CHAMP1	OMIM:616579
HP:0001288	Gait disturbance	8309	ACOX2	OMIM:617308
HP:0001288	Gait disturbance	55780	ERMARD	ORPHA:75857
HP:0001288	Gait disturbance	7054	TH	OMIM:605407
HP:0001288	Gait disturbance	7054	TH	ORPHA:101150
HP:0001288	Gait disturbance	146057	TTBK2	OMIM:604432
HP:0001288	Gait disturbance	57492	ARID1B	OMIM:135900
HP:0001288	Gait disturbance	50484	RRM2B	OMIM:613077
HP:0001288	Gait disturbance	50484	RRM2B	ORPHA:254892
HP:0001288	Gait disturbance	50484	RRM2B	OMIM:612075
HP:0001288	Gait disturbance	5119	CHMP1A	OMIM:614961
HP:0001288	Gait disturbance	7436	VLDLR	OMIM:224050
HP:0001288	Gait disturbance	5173	PDYN	OMIM:610245
HP:0001288	Gait disturbance	5173	PDYN	ORPHA:101108
HP:0001288	Gait disturbance	10939	AFG3L2	OMIM:610246
HP:0001288	Gait disturbance	10939	AFG3L2	ORPHA:101109
HP:0001288	Gait disturbance	5190	PEX6	ORPHA:95433
HP:0001288	Gait disturbance	10157	AASS	ORPHA:3124
HP:0001288	Gait disturbance	55187	VPS13D	ORPHA:95434
HP:0001288	Gait disturbance	55187	VPS13D	OMIM:607317
HP:0001288	Gait disturbance	823	CAPN1	OMIM:616907
HP:0001288	Gait disturbance	823	CAPN1	ORPHA:488594
HP:0001288	Gait disturbance	5832	ALDH18A1	OMIM:601162
HP:0001288	Gait disturbance	10273	STUB1	OMIM:618093
HP:0001288	Gait disturbance	343641	TGM6	ORPHA:276193
HP:0001288	Gait disturbance	857	CAV1	OMIM:606721
HP:0001288	Gait disturbance	6687	SPG7	OMIM:607259
HP:0001288	Gait disturbance	26278	SACS	ORPHA:98
HP:0001288	Gait disturbance	10935	PRDX3	OMIM:619862
HP:0001288	Gait disturbance	23203	PMPCA	ORPHA:1170
HP:0001288	Gait disturbance	23203	PMPCA	OMIM:213200
HP:0001288	Gait disturbance	5528	PPP2R5D	OMIM:616355
HP:0001288	Gait disturbance	6712	SPTBN2	OMIM:615386
HP:0001288	Gait disturbance	6712	SPTBN2	OMIM:600224
HP:0001288	Gait disturbance	54872	PIGG	ORPHA:488635
HP:0001288	Gait disturbance	54840	APTX	OMIM:208920
HP:0001288	Gait disturbance	950	SCARB2	OMIM:254900
HP:0001288	Gait disturbance	27235	COQ2	ORPHA:98933
HP:0001288	Gait disturbance	27235	COQ2	ORPHA:227510
HP:0001288	Gait disturbance	9711	RUBCN	OMIM:615705
HP:0001288	Gait disturbance	9711	RUBCN	ORPHA:404499
HP:0001288	Gait disturbance	6908	TBP	OMIM:607136
HP:0001288	Gait disturbance	477	ATP1A2	OMIM:602481
HP:0001288	Gait disturbance	2259	FGF14	OMIM:620174
HP:0001288	Gait disturbance	2259	FGF14	ORPHA:98764
HP:0001288	Gait disturbance	2259	FGF14	OMIM:193003
HP:0001288	Gait disturbance	3475	IFRD1	ORPHA:98771
HP:0001288	Gait disturbance	339453	TMEM240	ORPHA:98773
HP:0001288	Gait disturbance	339453	TMEM240	OMIM:607454
HP:0001288	Gait disturbance	1938	EEF2	OMIM:609306
HP:0001288	Gait disturbance	253738	EBF3	OMIM:617330
HP:0001288	Gait disturbance	9895	TECPR2	OMIM:615031
HP:0001288	Gait disturbance	9895	TECPR2	ORPHA:320385
HP:0001288	Gait disturbance	55280	CWF19L1	OMIM:616127
HP:0001288	Gait disturbance	55280	CWF19L1	ORPHA:453521
HP:0001288	Gait disturbance	54902	TTC19	OMIM:615157
HP:0001288	Gait disturbance	3748	KCNC3	ORPHA:98768
HP:0001288	Gait disturbance	3748	KCNC3	OMIM:605259
HP:0001288	Gait disturbance	60481	ELOVL5	OMIM:615957
HP:0001288	Gait disturbance	60481	ELOVL5	ORPHA:423296
HP:0001288	Gait disturbance	5582	PRKCG	ORPHA:98763
HP:0001288	Gait disturbance	5582	PRKCG	OMIM:605361
HP:0001288	Gait disturbance	724066	ATXN8	ORPHA:98760
HP:0001288	Gait disturbance	6315	ATXN8OS	ORPHA:98760
HP:0001288	Gait disturbance	25814	ATXN10	ORPHA:98761
HP:0001288	Gait disturbance	25814	ATXN10	OMIM:603516
HP:0001288	Gait disturbance	4311	MME	ORPHA:497764
HP:0001288	Gait disturbance	4311	MME	OMIM:617018
HP:0001288	Gait disturbance	2232	FDXR	ORPHA:543470
HP:0001288	Gait disturbance	7222	TRPC3	ORPHA:458798
HP:0001288	Gait disturbance	7222	TRPC3	OMIM:616410
HP:0001288	Gait disturbance	59336	PRDM13	OMIM:619761
HP:0001288	Gait disturbance	5192	PEX10	OMIM:614871
HP:0001288	Gait disturbance	1356	CP	ORPHA:48818
HP:0001288	Gait disturbance	23400	ATP13A2	OMIM:617225
HP:0001288	Gait disturbance	23261	CAMTA1	OMIM:614756
HP:0001288	Gait disturbance	9409	PEX16	OMIM:614877
HP:0001288	Gait disturbance	6311	ATXN2	ORPHA:98756
HP:0001288	Gait disturbance	84919	PPP1R15B	OMIM:616817
HP:0001288	Gait disturbance	773	CACNA1A	ORPHA:98758
HP:0001288	Gait disturbance	6925	TCF4	OMIM:610954
HP:0001288	Gait disturbance	6925	TCF4	ORPHA:2896
HP:0001288	Gait disturbance	5981	RFC1	ORPHA:504476
HP:0001288	Gait disturbance	5981	RFC1	OMIM:614575
HP:0001288	Gait disturbance	4677	NARS1	OMIM:619092
HP:0001288	Gait disturbance	55739	NAXD	OMIM:618321
HP:0001288	Gait disturbance	51741	WWOX	ORPHA:284282
HP:0001288	Gait disturbance	51741	WWOX	OMIM:614322
HP:0001288	Gait disturbance	9922	IQSEC1	OMIM:618687
HP:0001288	Gait disturbance	55149	MTPAP	OMIM:613672
HP:0001288	Gait disturbance	23219	FBXO28	OMIM:619777
HP:0001288	Gait disturbance	404672	GTF2H5	ORPHA:33364
HP:0001288	Gait disturbance	833	CARS1	ORPHA:33364
HP:0001288	Gait disturbance	2068	ERCC2	ORPHA:33364
HP:0001288	Gait disturbance	7737	RNF113A	ORPHA:33364
HP:0001288	Gait disturbance	7737	RNF113A	OMIM:300953
HP:0001288	Gait disturbance	136647	MPLKIP	ORPHA:33364
HP:0001288	Gait disturbance	6897	TARS1	ORPHA:33364
HP:0001288	Gait disturbance	2071	ERCC3	ORPHA:33364
HP:0001288	Gait disturbance	2961	GTF2E2	ORPHA:33364
HP:0001288	Gait disturbance	3954	LETM1	OMIM:620089
HP:0001288	Gait disturbance	3752	KCND3	OMIM:607346
HP:0001288	Gait disturbance	6595	SMARCA2	OMIM:601358
HP:0001288	Gait disturbance	56652	TWNK	OMIM:607459
HP:0001288	Gait disturbance	56652	TWNK	ORPHA:254892
HP:0001288	Gait disturbance	56652	TWNK	ORPHA:70595
HP:0001288	Gait disturbance	27077	B9D1	OMIM:617120
HP:0001288	Gait disturbance	5111	PCNA	ORPHA:438134
HP:0001288	Gait disturbance	57410	SCYL1	OMIM:616719
HP:0001288	Gait disturbance	57410	SCYL1	ORPHA:466794
HP:0001288	Gait disturbance	10382	TUBB4A	OMIM:128101
HP:0001288	Gait disturbance	23064	SETX	OMIM:606002
HP:0001288	Gait disturbance	9230	RAB11B	OMIM:617807
HP:0001288	Gait disturbance	8905	AP1S2	OMIM:304340
HP:0001288	Gait disturbance	4001	LMNB1	ORPHA:99027
HP:0001288	Gait disturbance	54704	PDP1	OMIM:608782
HP:0001288	Gait disturbance	11232	POLG2	ORPHA:254892
HP:0001288	Gait disturbance	8925	HERC1	OMIM:617011
HP:0001288	Gait disturbance	8925	HERC1	ORPHA:457359
HP:0001288	Gait disturbance	92935	MARS2	OMIM:611390
HP:0001288	Gait disturbance	92935	MARS2	ORPHA:314603
HP:0001288	Gait disturbance	1173	AP2M1	OMIM:618587
HP:0001288	Gait disturbance	57102	C12orf4	OMIM:618221
HP:0001288	Gait disturbance	79876	UBA5	OMIM:617133
HP:0001288	Gait disturbance	124997	WDR81	OMIM:610185
HP:0001288	Gait disturbance	10765	KDM5B	OMIM:618109
HP:0001288	Gait disturbance	57704	GBA2	ORPHA:352641
HP:0001288	Gait disturbance	6334	SCN8A	OMIM:614306
HP:0001288	Gait disturbance	4967	OGDH	OMIM:203740
HP:0001288	Gait disturbance	9256	TSPOAP1	ORPHA:101150
HP:0001288	Gait disturbance	26580	BSCL2	ORPHA:363400
HP:0001288	Gait disturbance	6548	SLC9A1	OMIM:616291
HP:0001288	Gait disturbance	23102	TBC1D2B	OMIM:619323
HP:0001288	Gait disturbance	440193	CCDC88C	OMIM:616053
HP:0001288	Gait disturbance	440193	CCDC88C	ORPHA:423275
HP:0001288	Gait disturbance	478	ATP1A3	OMIM:601338
HP:0001288	Gait disturbance	478	ATP1A3	ORPHA:71517
HP:0001288	Gait disturbance	4081	MAB21L1	OMIM:618479
HP:0001288	Gait disturbance	5994	RFXAP	ORPHA:572
HP:0001288	Gait disturbance	4261	CIITA	ORPHA:572
HP:0001288	Gait disturbance	5993	RFX5	ORPHA:572
HP:0001288	Gait disturbance	8625	RFXANK	ORPHA:572
HP:0001288	Gait disturbance	28982	FLVCR1	ORPHA:88628
HP:0001288	Gait disturbance	1181	CLCN2	OMIM:615651
HP:0001288	Gait disturbance	4125	MAN2B1	OMIM:248500
HP:0001288	Gait disturbance	116150	NUS1	OMIM:617831
HP:0001288	Gait disturbance	267010	RNU12	OMIM:620208
HP:0001288	Gait disturbance	267010	RNU12	ORPHA:512260
HP:0001288	Gait disturbance	54834	GDAP2	OMIM:618369
HP:0001288	Gait disturbance	54974	THG1L	OMIM:618800
HP:0001288	Gait disturbance	4864	NPC1	OMIM:257220
HP:0001288	Gait disturbance	4361	MRE11	OMIM:604391
HP:0001288	Gait disturbance	4361	MRE11	ORPHA:251347
HP:0001288	Gait disturbance	3119	HLA-DQB1	OMIM:123400
HP:0001288	Gait disturbance	20	ABCA2	OMIM:618808
HP:0001288	Gait disturbance	5611	DNAJC3	OMIM:616192
HP:0001288	Gait disturbance	5611	DNAJC3	ORPHA:445062
HP:0001288	Gait disturbance	372	ARCN1	OMIM:617164
HP:0001288	Gait disturbance	23395	LARS2	OMIM:615300
HP:0001288	Gait disturbance	1200	TPP1	OMIM:609270
HP:0001288	Gait disturbance	128989	TANGO2	OMIM:616878
HP:0001288	Gait disturbance	2065	ERBB3	OMIM:243180
HP:0001288	Gait disturbance	27010	TPK1	OMIM:614458
HP:0001288	Gait disturbance	87178	PNPT1	ORPHA:101111
HP:0001288	Gait disturbance	410	ARSA	ORPHA:309256
HP:0001288	Gait disturbance	3615	IMPDH2	ORPHA:98808
HP:0001288	Gait disturbance	131669	UROC1	OMIM:276880
HP:0001288	Gait disturbance	131669	UROC1	ORPHA:210128
HP:0001288	Gait disturbance	7345	UCHL1	OMIM:620221
HP:0001288	Gait disturbance	5058	PAK1	OMIM:618158
HP:0001288	Gait disturbance	122553	TRAPPC6B	OMIM:617862
HP:0001288	Gait disturbance	7204	TRIO	ORPHA:476126
HP:0001288	Gait disturbance	3295	HSD17B4	OMIM:233400
HP:0001288	Gait disturbance	6785	ELOVL4	OMIM:133190
HP:0001288	Gait disturbance	10522	DEAF1	ORPHA:468620
HP:0001288	Gait disturbance	9516	LITAF	OMIM:601098
HP:0001288	Gait disturbance	5456	POU3F4	ORPHA:1435
HP:0001288	Gait disturbance	23636	NUP62	ORPHA:225154
HP:0001288	Gait disturbance	103	ADAR	ORPHA:225154
HP:0001288	Gait disturbance	6389	SDHA	OMIM:619259
HP:0001288	Gait disturbance	10479	SLC9A6	ORPHA:85278
HP:0001288	Gait disturbance	84823	LMNB2	OMIM:616540
HP:0001288	Gait disturbance	22943	DKK1	ORPHA:268882
HP:0001288	Gait disturbance	9487	PIGL	OMIM:280000
HP:0001288	Gait disturbance	7515	XRCC1	OMIM:617633
HP:0001288	Gait disturbance	81615	TMEM163	OMIM:620243
HP:0001288	Gait disturbance	1795	DOCK3	OMIM:618292
HP:0001288	Gait disturbance	84842	HPDL	OMIM:619027
HP:0001288	Gait disturbance	221927	BRAT1	OMIM:618056
HP:0001288	Gait disturbance	2196	FAT2	OMIM:617769
HP:0001288	Gait disturbance	8398	PLA2G6	OMIM:610217
HP:0001288	Gait disturbance	55129	ANO10	OMIM:613728
HP:0001288	Gait disturbance	6535	SLC6A8	OMIM:300352
HP:0001288	Gait disturbance	11253	MAN1B1	ORPHA:397941
HP:0001288	Gait disturbance	26960	NBEA	OMIM:619157
HP:0001288	Gait disturbance	1859	DYRK1A	ORPHA:268261
HP:0001288	Gait disturbance	23241	PACS2	OMIM:618067
HP:0001288	Gait disturbance	23314	SATB2	ORPHA:251028
HP:0001288	Gait disturbance	23314	SATB2	OMIM:612313
HP:0001288	Gait disturbance	10743	RAI1	ORPHA:477817
HP:0001288	Gait disturbance	91942	NDUFAF2	OMIM:618233
HP:0001288	Gait disturbance	56521	DNAJC12	OMIM:617384
HP:0001288	Gait disturbance	6492	SIM1	ORPHA:171829
HP:0001288	Gait disturbance	790	CAD	OMIM:616457
HP:0001288	Gait disturbance	1654	DDX3X	ORPHA:457260
HP:0001288	Gait disturbance	1654	DDX3X	OMIM:300958
HP:0001288	Gait disturbance	10847	SRCAP	ORPHA:2044
HP:0001288	Gait disturbance	4131	MAP1B	OMIM:618918
HP:0001288	Gait disturbance	4297	KMT2A	OMIM:605130
HP:0001288	Gait disturbance	51132	RLIM	OMIM:300978
HP:0001288	Gait disturbance	63035	BCORL1	OMIM:301029
HP:0001288	Gait disturbance	9968	MED12	ORPHA:93932
HP:0001288	Gait disturbance	26007	TKFC	OMIM:618805
HP:0001288	Gait disturbance	4358	MPV17	OMIM:256810
HP:0001288	Gait disturbance	9378	NRXN1	OMIM:614325
HP:0001288	Gait disturbance	10087	CERT1	OMIM:616351
HP:0001288	Gait disturbance	7156	TOP3A	OMIM:618098
HP:0001288	Gait disturbance	7067	THRA	OMIM:614450
HP:0001288	Gait disturbance	2783	GNB2	OMIM:619503
HP:0001288	Gait disturbance	84065	TMEM222	OMIM:619470
HP:0001288	Gait disturbance	8493	PPM1D	OMIM:617450
HP:0001288	Gait disturbance	8558	CDK10	OMIM:617694
HP:0001288	Gait disturbance	6711	SPTBN1	OMIM:619475
HP:0001288	Gait disturbance	8936	WASF1	OMIM:618707
HP:0001288	Gait disturbance	53335	BCL11A	OMIM:617101
HP:0001288	Gait disturbance	93587	TRMT10A	ORPHA:391408
HP:0001288	Gait disturbance	8241	RBM10	ORPHA:2886
HP:0001288	Gait disturbance	54888	NSUN2	OMIM:611091
HP:0001288	Gait disturbance	7518	XRCC4	OMIM:616541
HP:0001288	Gait disturbance	96459	FNIP1	OMIM:619705
HP:0001288	Gait disturbance	57194	ATP10A	ORPHA:411515
HP:0001288	Gait disturbance	5830	PEX5	OMIM:616716
HP:0001288	Gait disturbance	2592	GALT	ORPHA:79239
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:98794
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:98795
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:411511
HP:0001288	Gait disturbance	4948	OCA2	ORPHA:98794
HP:0001288	Gait disturbance	4694	NDUFA1	OMIM:301020
HP:0001288	Gait disturbance	23013	SPEN	OMIM:619312
HP:0001288	Gait disturbance	513	ATP5F1D	OMIM:618120
HP:0001288	Gait disturbance	246243	RNASEH1	ORPHA:329336
HP:0001288	Gait disturbance	23533	PIK3R5	ORPHA:64753
HP:0001288	Gait disturbance	7994	KAT6A	OMIM:616268
HP:0001288	Gait disturbance	1108	CHD4	OMIM:617159
HP:0001288	Gait disturbance	6804	STX1A	ORPHA:904
HP:0001288	Gait disturbance	7461	CLIP2	ORPHA:904
HP:0001288	Gait disturbance	84277	DNAJC30	ORPHA:904
HP:0001288	Gait disturbance	8468	FKBP6	ORPHA:904
HP:0001288	Gait disturbance	5982	RFC2	ORPHA:904
HP:0001288	Gait disturbance	2969	GTF2I	ORPHA:904
HP:0001288	Gait disturbance	3984	LIMK1	ORPHA:904
HP:0001288	Gait disturbance	9569	GTF2IRD1	ORPHA:904
HP:0001288	Gait disturbance	155382	VPS37D	ORPHA:904
HP:0001288	Gait disturbance	155368	METTL27	ORPHA:904
HP:0001288	Gait disturbance	114049	BUD23	ORPHA:904
HP:0001288	Gait disturbance	7458	EIF4H	ORPHA:904
HP:0001288	Gait disturbance	84163	GTF2IRD2	ORPHA:904
HP:0001288	Gait disturbance	9275	BCL7B	ORPHA:904
HP:0001288	Gait disturbance	26608	TBL2	ORPHA:904
HP:0001288	Gait disturbance	653361	NCF1	ORPHA:904
HP:0001288	Gait disturbance	135886	TMEM270	ORPHA:904
HP:0001288	Gait disturbance	51085	MLXIPL	ORPHA:904
HP:0001288	Gait disturbance	51085	MLXIPL	OMIM:194050
HP:0001288	Gait disturbance	9031	BAZ1B	ORPHA:904
HP:0001288	Gait disturbance	2006	ELN	ORPHA:904
HP:0001288	Gait disturbance	2006	ELN	OMIM:194050
HP:0001288	Gait disturbance	84100	ARL6	OMIM:209900
HP:0001288	Gait disturbance	79140	CCDC28B	OMIM:209900
HP:0001288	Gait disturbance	582	BBS1	OMIM:209900
HP:0001288	Gait disturbance	83480	PUS3	ORPHA:488627
HP:0001288	Gait disturbance	9289	ADGRG1	ORPHA:101070
HP:0001288	Gait disturbance	5728	PTEN	ORPHA:101070
HP:0001288	Gait disturbance	3098	HK1	ORPHA:99953
HP:0001288	Gait disturbance	54832	VPS13C	ORPHA:2828
HP:0001288	Gait disturbance	11315	PARK7	ORPHA:2828
HP:0001288	Gait disturbance	27429	HTRA2	ORPHA:2828
HP:0001288	Gait disturbance	65018	PINK1	ORPHA:2828
HP:0001288	Gait disturbance	5071	PRKN	ORPHA:2828
HP:0001288	Gait disturbance	113278	SLC52A3	OMIM:211530
HP:0001288	Gait disturbance	6310	ATXN1	ORPHA:98755
HP:0001288	Gait disturbance	64132	XYLT2	OMIM:605822
HP:0001288	Gait disturbance	25792	CIZ1	ORPHA:420492
HP:0001288	Gait disturbance	80207	OPA3	ORPHA:67036
HP:0001288	Gait disturbance	9853	RUSC2	OMIM:617773
HP:0001288	Gait disturbance	2132	EXT2	OMIM:616682
HP:0001288	Gait disturbance	7167	TPI1	OMIM:615512
HP:0001288	Gait disturbance	1161	ERCC8	ORPHA:90324
HP:0001288	Gait disturbance	8924	HERC2	OMIM:615516
HP:0001288	Gait disturbance	2617	GARS1	ORPHA:139536
HP:0001288	Gait disturbance	123263	MTFMT	OMIM:614947
HP:0001288	Gait disturbance	85358	SHANK3	OMIM:606232
HP:0001288	Gait disturbance	5457	POU4F1	ORPHA:314647
HP:0001288	Gait disturbance	6442	SGCA	OMIM:608099
HP:0001288	Gait disturbance	51218	GLRX5	ORPHA:401866
HP:0001288	Gait disturbance	9227	LRAT	ORPHA:364055
HP:0001288	Gait disturbance	55812	SPATA7	ORPHA:364055
HP:0001288	Gait disturbance	6121	RPE65	ORPHA:364055
HP:0001288	Gait disturbance	167691	LCA5	ORPHA:364055
HP:0001288	Gait disturbance	538	ATP7A	OMIM:300489
HP:0001288	Gait disturbance	1630	DCC	OMIM:617542
HP:0001288	Gait disturbance	318	NUDT2	OMIM:619844
HP:0001288	Gait disturbance	55163	PNPO	ORPHA:79096
HP:0001288	Gait disturbance	55163	PNPO	OMIM:610090
HP:0001288	Gait disturbance	54344	DPM3	OMIM:612937
HP:0001288	Gait disturbance	5189	PEX1	OMIM:214100
HP:0001288	Gait disturbance	1725	DHPS	OMIM:618480
HP:0001288	Gait disturbance	219285	SAMD9L	OMIM:159550
HP:0001288	Gait disturbance	219285	SAMD9L	OMIM:619806
HP:0001288	Gait disturbance	219285	SAMD9L	ORPHA:2585
HP:0001288	Gait disturbance	8575	PRKRA	ORPHA:210571
HP:0001288	Gait disturbance	8888	MCM3AP	OMIM:618124
HP:0001288	Gait disturbance	9131	AIFM1	OMIM:300614
HP:0001288	Gait disturbance	5530	PPP3CA	OMIM:617711
HP:0001288	Gait disturbance	5530	PPP3CA	ORPHA:442835
HP:0001288	Gait disturbance	55157	DARS2	ORPHA:137898
HP:0001288	Gait disturbance	1183	CLCN4	ORPHA:485350
HP:0001288	Gait disturbance	9782	MATR3	ORPHA:600
HP:0001288	Gait disturbance	1605	DAG1	ORPHA:280333
HP:0001288	Gait disturbance	1605	DAG1	OMIM:613818
HP:0001288	Gait disturbance	64919	BCL11B	OMIM:618092
HP:0001288	Gait disturbance	8802	SUCLG1	ORPHA:17
HP:0001288	Gait disturbance	56479	KCNQ5	OMIM:617601
HP:0001288	Gait disturbance	1600	DAB1	OMIM:615945
HP:0001288	Gait disturbance	9731	CEP104	OMIM:619988
HP:0001288	Gait disturbance	3737	KCNA2	ORPHA:442835
HP:0001288	Gait disturbance	8120	AP3B2	ORPHA:442835
HP:0001288	Gait disturbance	22906	TRAK1	ORPHA:442835
HP:0001288	Gait disturbance	1917	EEF1A2	ORPHA:442835
HP:0001288	Gait disturbance	1917	EEF1A2	OMIM:616409
HP:0001288	Gait disturbance	8831	SYNGAP1	ORPHA:442835
HP:0001288	Gait disturbance	8831	SYNGAP1	ORPHA:1942
HP:0001288	Gait disturbance	7532	YWHAG	ORPHA:442835
HP:0001288	Gait disturbance	2558	GABRA5	ORPHA:442835
HP:0001288	Gait disturbance	781	CACNA2D1	ORPHA:442835
HP:0001288	Gait disturbance	2906	GRIN2D	ORPHA:442835
HP:0001288	Gait disturbance	23334	SZT2	ORPHA:442835
HP:0001288	Gait disturbance	348980	HCN1	ORPHA:442835
HP:0001288	Gait disturbance	2258	FGF13	ORPHA:442835
HP:0001288	Gait disturbance	3745	KCNB1	ORPHA:442835
HP:0001288	Gait disturbance	284111	SLC13A5	ORPHA:442835
HP:0001288	Gait disturbance	25977	NECAP1	ORPHA:442835
HP:0001288	Gait disturbance	16	AARS1	ORPHA:442835
HP:0001288	Gait disturbance	22866	CNKSR2	ORPHA:442835
HP:0001288	Gait disturbance	55152	DALRD3	ORPHA:442835
HP:0001288	Gait disturbance	26999	CYFIP2	ORPHA:442835
HP:0001288	Gait disturbance	25973	PARS2	ORPHA:442835
HP:0001288	Gait disturbance	23097	CDK19	ORPHA:442835
HP:0001288	Gait disturbance	64801	ARV1	ORPHA:442835
HP:0001288	Gait disturbance	79947	DHDDS	ORPHA:442835
HP:0001288	Gait disturbance	492	ATP2B3	ORPHA:314978
HP:0001288	Gait disturbance	492	ATP2B3	OMIM:302500
HP:0001288	Gait disturbance	4247	MGAT2	OMIM:212066
HP:0001288	Gait disturbance	121512	FGD4	OMIM:609311
HP:0001288	Gait disturbance	339983	NAT8L	OMIM:614063
HP:0001288	Gait disturbance	10846	PDE10A	ORPHA:494526
HP:0001288	Gait disturbance	10846	PDE10A	OMIM:616921
HP:0001288	Gait disturbance	1387	CREBBP	OMIM:180849
HP:0001288	Gait disturbance	2033	EP300	OMIM:180849
HP:0001288	Gait disturbance	5828	PEX2	OMIM:614867
HP:0001288	Gait disturbance	8659	ALDH4A1	ORPHA:79101
HP:0001288	Gait disturbance	5521	PPP2R2B	ORPHA:98762
HP:0001288	Gait disturbance	8050	PDHX	OMIM:245349
HP:0001288	Gait disturbance	255928	SYT14	ORPHA:284271
HP:0001288	Gait disturbance	54870	QRICH1	OMIM:617982
HP:0001288	Gait disturbance	57688	ZSWIM6	OMIM:617865
HP:0001288	Gait disturbance	10531	PITRM1	OMIM:619405
HP:0001288	Gait disturbance	1107	CHD3	OMIM:618205
HP:0001288	Gait disturbance	1384	CRAT	OMIM:617917
HP:0001288	Gait disturbance	200403	VWA3B	OMIM:616948
HP:0001288	Gait disturbance	340533	NEXMIF	ORPHA:1942
HP:0001288	Gait disturbance	1106	CHD2	ORPHA:1942
HP:0001288	Gait disturbance	6529	SLC6A1	ORPHA:1942
HP:0001288	Gait disturbance	1967	EIF2B1	OMIM:603896
HP:0001288	Gait disturbance	55690	PACS1	ORPHA:329224
HP:0001288	Gait disturbance	8449	DHX16	OMIM:618733
HP:0001288	Gait disturbance	4771	NF2	ORPHA:637
HP:0001288	Gait disturbance	4976	OPA1	OMIM:210000
HP:0001288	Gait disturbance	23769	FLRT1	ORPHA:320406
HP:0001288	Gait disturbance	6834	SURF1	OMIM:616684
HP:0001288	Gait disturbance	1024	CDK8	OMIM:618748
HP:0001288	Gait disturbance	1593	CYP27A1	OMIM:213700
HP:0001288	Gait disturbance	825	CAPN3	OMIM:253600
HP:0001288	Gait disturbance	825	CAPN3	ORPHA:267
HP:0001288	Gait disturbance	2072	ERCC4	ORPHA:90321
HP:0001288	Gait disturbance	2067	ERCC1	ORPHA:90322
HP:0001288	Gait disturbance	200205	IBA57	ORPHA:468661
HP:0001288	Gait disturbance	5917	RARS1	ORPHA:438114
HP:0001288	Gait disturbance	1763	DNA2	ORPHA:352470
HP:0001288	Gait disturbance	120227	CYP2R1	OMIM:600081
HP:0001288	Gait disturbance	120227	CYP2R1	ORPHA:289157
HP:0001288	Gait disturbance	84876	ORAI1	OMIM:612782
HP:0001288	Gait disturbance	29967	LRP12	OMIM:164310
HP:0001288	Gait disturbance	10367	MICU1	ORPHA:401768
HP:0001288	Gait disturbance	10367	MICU1	OMIM:615673
HP:0001288	Gait disturbance	8557	TCAP	OMIM:601954
HP:0001288	Gait disturbance	5297	PI4KA	OMIM:619621
HP:0001288	Gait disturbance	1656	DDX6	OMIM:618653
HP:0001288	Gait disturbance	1594	CYP27B1	OMIM:264700
HP:0001288	Gait disturbance	1594	CYP27B1	ORPHA:289157
HP:0001288	Gait disturbance	55526	DHTKD1	OMIM:615025
HP:0001288	Gait disturbance	10352	WARS2	ORPHA:572798
HP:0001288	Gait disturbance	84138	SLC7A6OS	OMIM:619191
HP:0001288	Gait disturbance	84504	NKX6-2	ORPHA:527497
HP:0001288	Gait disturbance	8239	USP9X	ORPHA:480880
HP:0001288	Gait disturbance	540	ATP7B	ORPHA:905
HP:0001288	Gait disturbance	8314	BAP1	ORPHA:2495
HP:0001288	Gait disturbance	6598	SMARCB1	ORPHA:2495
HP:0001288	Gait disturbance	5155	PDGFB	ORPHA:2495
HP:0001288	Gait disturbance	84231	TRAF7	ORPHA:2495
HP:0001288	Gait disturbance	6608	SMO	ORPHA:2495
HP:0001288	Gait disturbance	207	AKT1	ORPHA:2495
HP:0001288	Gait disturbance	5290	PIK3CA	ORPHA:2495
HP:0001288	Gait disturbance	7015	TERT	ORPHA:2495
HP:0001288	Gait disturbance	51684	SUFU	ORPHA:2495
HP:0001288	Gait disturbance	6605	SMARCE1	ORPHA:2495
HP:0001288	Gait disturbance	11149	BVES	OMIM:616812
HP:0001288	Gait disturbance	23175	LPIN1	ORPHA:99845
HP:0001288	Gait disturbance	4512	MT-CO1	ORPHA:99845
HP:0001288	Gait disturbance	4514	MT-CO3	ORPHA:99845
HP:0001288	Gait disturbance	8565	YARS1	OMIM:608323
HP:0001288	Gait disturbance	57104	PNPLA2	OMIM:610717
HP:0001288	Gait disturbance	57104	PNPLA2	ORPHA:98908
HP:0001288	Gait disturbance	111	ADCY5	ORPHA:324588
HP:0001288	Gait disturbance	339855	KY	OMIM:617114
HP:0001288	Gait disturbance	10463	SLC30A9	OMIM:617595
HP:0001288	Gait disturbance	23479	ISCU	OMIM:255125
HP:0001288	Gait disturbance	2512	FTL	ORPHA:157846
HP:0001288	Gait disturbance	4883	NPR3	OMIM:619543
HP:0001288	Gait disturbance	80199	FUZ	ORPHA:1136
HP:0001288	Gait disturbance	10535	RNASEH2A	ORPHA:51
HP:0001288	Gait disturbance	84153	RNASEH2C	ORPHA:51
HP:0001288	Gait disturbance	25939	SAMHD1	ORPHA:51
HP:0001288	Gait disturbance	79621	RNASEH2B	ORPHA:51
HP:0001288	Gait disturbance	100147744	RNU7-1	ORPHA:51
HP:0001288	Gait disturbance	134353	LSM11	ORPHA:51
HP:0001288	Gait disturbance	7080	NKX2-1	OMIM:610978
HP:0001288	Gait disturbance	4728	NDUFS8	OMIM:618222
HP:0001288	Gait disturbance	1410	CRYAB	ORPHA:399058
HP:0001288	Gait disturbance	64419	MTMR14	ORPHA:169189
HP:0001288	Gait disturbance	4618	MYF6	ORPHA:169189
HP:0001288	Gait disturbance	1785	DNM2	ORPHA:169189
HP:0001288	Gait disturbance	3208	HPCA	ORPHA:99657
HP:0001288	Gait disturbance	2581	GALC	ORPHA:206443
HP:0001288	Gait disturbance	84909	AOPEP	OMIM:619565
HP:0001288	Gait disturbance	518	ATP5MC3	OMIM:619681
HP:0001288	Gait disturbance	6652	SORD	OMIM:618912
HP:0001288	Gait disturbance	84679	SLC9A7	OMIM:301024
HP:0001288	Gait disturbance	112939	NACC1	OMIM:617393
HP:0001288	Gait disturbance	80224	NUBPL	OMIM:618242
HP:0001288	Gait disturbance	1737	DLAT	ORPHA:79244
HP:0001288	Gait disturbance	51324	SPG21	ORPHA:101001
HP:0001288	Gait disturbance	26175	LYSET	OMIM:619345
HP:0001288	Gait disturbance	2992	GYG1	OMIM:616199
HP:0001288	Gait disturbance	7421	VDR	OMIM:277440
HP:0001288	Gait disturbance	7453	WARS1	OMIM:617721
HP:0001288	Gait disturbance	2218	FKTN	ORPHA:370980
HP:0001288	Gait disturbance	729920	CRPPA	ORPHA:370980
HP:0001288	Gait disturbance	10755	GIPC1	ORPHA:98897
HP:0001288	Gait disturbance	100996717	NOTCH2NLC	ORPHA:98897
HP:0001288	Gait disturbance	2548	GAA	OMIM:232300
HP:0001288	Gait disturbance	283446	MYO1H	OMIM:619482
HP:0001288	Gait disturbance	3710	ITPR3	OMIM:620111
HP:0001288	Gait disturbance	2799	GNS	OMIM:252940
HP:0001288	Gait disturbance	80347	COASY	ORPHA:397725
HP:0001288	Gait disturbance	5317	PKP1	ORPHA:158668
HP:0001288	Gait disturbance	51	ACOX1	OMIM:618960
HP:0001288	Gait disturbance	210	ALAD	ORPHA:100924
HP:0001288	Gait disturbance	89970	RSPRY1	ORPHA:457395
HP:0001288	Gait disturbance	4038	LRP4	OMIM:616304
HP:0001288	Gait disturbance	51099	ABHD5	ORPHA:98907
HP:0001288	Gait disturbance	81545	FBXO38	OMIM:615575
HP:0001288	Gait disturbance	1674	DES	ORPHA:98909
HP:0001288	Gait disturbance	60386	SLC25A19	OMIM:613710
HP:0001288	Gait disturbance	9451	EIF2AK3	ORPHA:1667
HP:0001288	Gait disturbance	4914	NTRK1	ORPHA:642
HP:0001288	Gait disturbance	84706	GPT2	ORPHA:477673
HP:0001288	Gait disturbance	125170	MIEF2	OMIM:619024
HP:0001288	Gait disturbance	9570	GOSR2	OMIM:614018
HP:0001288	Gait disturbance	10299	MARCHF6	OMIM:613608
HP:0001288	Gait disturbance	1436	CSF1R	OMIM:221820
HP:0001288	Gait disturbance	8242	KDM5C	OMIM:300534
HP:0001288	Gait disturbance	6571	SLC18A2	OMIM:618049
HP:0001288	Gait disturbance	6571	SLC18A2	ORPHA:352649
HP:0001288	Gait disturbance	2629	GBA1	ORPHA:411602
HP:0001288	Gait disturbance	23317	DNAJC13	ORPHA:411602
HP:0001288	Gait disturbance	1981	EIF4G1	ORPHA:411602
HP:0001288	Gait disturbance	55737	VPS35	ORPHA:411602
HP:0001288	Gait disturbance	120892	LRRK2	ORPHA:411602
HP:0001288	Gait disturbance	26058	GIGYF2	ORPHA:411602
HP:0001288	Gait disturbance	6622	SNCA	ORPHA:411602
HP:0001288	Gait disturbance	6622	SNCA	ORPHA:171695
HP:0001288	Gait disturbance	6622	SNCA	OMIM:168601
HP:0001288	Gait disturbance	1201	CLN3	ORPHA:228346
HP:0001288	Gait disturbance	116442	RAB39B	OMIM:311510
HP:0001288	Gait disturbance	6872	TAF1	ORPHA:53351
HP:0001288	Gait disturbance	10269	ZMPSTE24	ORPHA:740
HP:0001288	Gait disturbance	25793	FBXO7	ORPHA:171695
HP:0001288	Gait disturbance	5575	PRKAR1B	ORPHA:412066
HP:0001288	Gait disturbance	54664	TMEM106B	OMIM:617964
HP:0001288	Gait disturbance	6444	SGCD	ORPHA:219
HP:0001288	Gait disturbance	3897	L1CAM	OMIM:303350
HP:0001288	Gait disturbance	8260	NAA10	ORPHA:276432
HP:0001288	Gait disturbance	1144	CHRND	OMIM:616321
HP:0001288	Gait disturbance	2066	ERBB4	OMIM:615515
HP:0001288	Gait disturbance	53616	ADAM22	OMIM:617933
HP:0001288	Gait disturbance	5339	PLEC	ORPHA:254361
HP:0001288	Gait disturbance	3714	JAG2	OMIM:619566
HP:0001288	Gait disturbance	64601	VPS16	OMIM:619291
HP:0001288	Gait disturbance	64207	IRF2BPL	OMIM:618088
HP:0001288	Gait disturbance	2058	EPRS1	OMIM:617951
HP:0001288	Gait disturbance	9217	VAPB	OMIM:608627
HP:0001288	Gait disturbance	9217	VAPB	OMIM:182980
HP:0001288	Gait disturbance	4700	NDUFA6	OMIM:618253
HP:0001288	Gait disturbance	60	ACTB	OMIM:607371
HP:0001288	Gait disturbance	84668	HYCC1	OMIM:610532
HP:0001288	Gait disturbance	3028	HSD17B10	ORPHA:391428
HP:0001288	Gait disturbance	9453	GGPS1	OMIM:619518
HP:0001288	Gait disturbance	6607	SMN2	OMIM:253400
HP:0001288	Gait disturbance	6392	SDHD	ORPHA:3208
HP:0001288	Gait disturbance	644096	SDHAF1	ORPHA:3208
HP:0001288	Gait disturbance	10133	OPTN	OMIM:613435
HP:0001288	Gait disturbance	85021	REPS1	OMIM:617916
HP:0001288	Gait disturbance	11128	POLR3A	OMIM:607694
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:97240
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:97244
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:171436
HP:0001288	Gait disturbance	58	ACTA1	OMIM:161800
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:171439
HP:0001288	Gait disturbance	274	BIN1	ORPHA:169186
HP:0001288	Gait disturbance	274	BIN1	OMIM:255200
HP:0001288	Gait disturbance	10290	SPEG	ORPHA:169186
HP:0001288	Gait disturbance	6261	RYR1	ORPHA:169186
HP:0001288	Gait disturbance	7528	YY1	ORPHA:506358
HP:0001288	Gait disturbance	7528	YY1	OMIM:617557
HP:0001288	Gait disturbance	57190	SELENON	ORPHA:97244
HP:0001288	Gait disturbance	91452	ACBD5	OMIM:618863
HP:0001288	Gait disturbance	127833	SYT2	OMIM:616040
HP:0001288	Gait disturbance	127833	SYT2	ORPHA:98914
HP:0001288	Gait disturbance	1778	DYNC1H1	OMIM:158600
HP:0001288	Gait disturbance	1778	DYNC1H1	OMIM:614563
HP:0001288	Gait disturbance	8838	CCN6	OMIM:208230
HP:0001288	Gait disturbance	8838	CCN6	ORPHA:1159
HP:0001288	Gait disturbance	6606	SMN1	OMIM:271150
HP:0001288	Gait disturbance	7109	TRAPPC10	OMIM:620027
HP:0001288	Gait disturbance	59341	TRPV4	ORPHA:93314
HP:0001288	Gait disturbance	59341	TRPV4	OMIM:184252
HP:0001288	Gait disturbance	10049	DNAJB6	OMIM:603511
HP:0001288	Gait disturbance	1120	CHKB	OMIM:602541
HP:0001288	Gait disturbance	7169	TPM2	ORPHA:171436
HP:0001288	Gait disturbance	7169	TPM2	OMIM:609285
HP:0001288	Gait disturbance	7169	TPM2	ORPHA:171439
HP:0001288	Gait disturbance	10324	KLHL41	ORPHA:171436
HP:0001288	Gait disturbance	10324	KLHL41	ORPHA:171439
HP:0001288	Gait disturbance	56203	LMOD3	ORPHA:171436
HP:0001288	Gait disturbance	1073	CFL2	ORPHA:171436
HP:0001288	Gait disturbance	1073	CFL2	OMIM:610687
HP:0001288	Gait disturbance	1836	SLC26A2	ORPHA:93307
HP:0001288	Gait disturbance	1311	COMP	ORPHA:93308
HP:0001288	Gait disturbance	1311	COMP	OMIM:132400
HP:0001288	Gait disturbance	1311	COMP	ORPHA:750
HP:0001288	Gait disturbance	1311	COMP	OMIM:177170
HP:0001288	Gait disturbance	55033	FKBP14	OMIM:614557
HP:0001288	Gait disturbance	9200	HACD1	OMIM:619967
HP:0001288	Gait disturbance	22954	TRIM32	ORPHA:1878
HP:0001288	Gait disturbance	22954	TRIM32	OMIM:254110
HP:0001288	Gait disturbance	79147	FKRP	OMIM:607155
HP:0001288	Gait disturbance	79147	FKRP	ORPHA:34515
HP:0001288	Gait disturbance	1297	COL9A1	ORPHA:166002
HP:0001288	Gait disturbance	1298	COL9A2	ORPHA:166002
HP:0001288	Gait disturbance	1298	COL9A2	OMIM:600204
HP:0001288	Gait disturbance	1299	COL9A3	ORPHA:166002
HP:0001288	Gait disturbance	3417	IDH1	ORPHA:99646
HP:0001288	Gait disturbance	2673	GFPT1	ORPHA:353327
HP:0001288	Gait disturbance	2673	GFPT1	OMIM:610542
HP:0001288	Gait disturbance	85365	ALG2	ORPHA:353327
HP:0001288	Gait disturbance	85365	ALG2	OMIM:616228
HP:0001288	Gait disturbance	199857	ALG14	ORPHA:353327
HP:0001288	Gait disturbance	7125	TNNC2	OMIM:620161
HP:0001288	Gait disturbance	64135	IFIH1	OMIM:182250
HP:0001288	Gait disturbance	4148	MATN3	ORPHA:156728
HP:0001288	Gait disturbance	4148	MATN3	OMIM:608728
HP:0001288	Gait disturbance	1300	COL10A1	ORPHA:174
HP:0001288	Gait disturbance	1300	COL10A1	OMIM:156500
HP:0001288	Gait disturbance	9469	CHST3	ORPHA:263463
HP:0001288	Gait disturbance	9469	CHST3	OMIM:143095
HP:0001288	Gait disturbance	1280	COL2A1	OMIM:616583
HP:0001288	Gait disturbance	1280	COL2A1	OMIM:609162
HP:0001288	Gait disturbance	1280	COL2A1	ORPHA:94068
HP:0001288	Gait disturbance	1280	COL2A1	OMIM:183900
HP:0001288	Gait disturbance	1280	COL2A1	OMIM:184255
HP:0001288	Gait disturbance	1280	COL2A1	ORPHA:166011
HP:0001288	Gait disturbance	7040	TGFB1	OMIM:131300
HP:0001288	Gait disturbance	7040	TGFB1	ORPHA:1328
HP:0001288	Gait disturbance	9581	PREPL	OMIM:616224
HP:0001288	Gait disturbance	2010	EMD	OMIM:310300
HP:0001288	Gait disturbance	2010	EMD	ORPHA:98863
HP:0001288	Gait disturbance	176	ACAN	OMIM:165800
HP:0001288	Gait disturbance	9241	NOG	OMIM:186500
HP:0001288	Gait disturbance	4620	MYH2	OMIM:605637
HP:0001288	Gait disturbance	112812	FDX2	OMIM:251900
HP:0001288	Gait disturbance	633	BGN	OMIM:300106
HP:0001288	Gait disturbance	4041	LRP5	ORPHA:2788
HP:0001288	Gait disturbance	8425	LTBP4	ORPHA:98896
HP:0001288	Gait disturbance	2335	FN1	OMIM:184255
HP:0001288	Gait disturbance	6445	SGCG	ORPHA:353
HP:0001288	Gait disturbance	4322	MMP13	OMIM:602111
HP:0001288	Gait disturbance	4322	MMP13	OMIM:250400
HP:0001288	Gait disturbance	203859	ANO5	ORPHA:399096
HP:0001288	Gait disturbance	23126	POGZ	OMIM:616364
HP:0001288	Gait disturbance	2588	GALNS	OMIM:253000
HP:0001288	Gait disturbance	55325	UFSP2	OMIM:617974
HP:0001288	Gait disturbance	84665	MYPN	OMIM:617336
HP:0001288	Gait disturbance	84665	MYPN	ORPHA:171439
HP:0001288	Gait disturbance	4744	NEFH	OMIM:616924
HP:0001288	Gait disturbance	8720	MBTPS1	OMIM:618392
HP:0001288	Gait disturbance	60482	SLC5A7	ORPHA:98914
HP:0001288	Gait disturbance	4649	MYO9A	ORPHA:98914
HP:0001288	Gait disturbance	1305	COL13A1	ORPHA:98914
HP:0001288	Gait disturbance	1103	CHAT	ORPHA:98914
HP:0001288	Gait disturbance	6576	SLC25A1	ORPHA:98914
HP:0001288	Gait disturbance	375790	AGRN	ORPHA:98914
HP:0001288	Gait disturbance	6572	SLC18A3	ORPHA:98914
HP:0001288	Gait disturbance	6616	SNAP25	ORPHA:98914
HP:0001288	Gait disturbance	8292	COLQ	ORPHA:98915
HP:0001288	Gait disturbance	3913	LAMB2	ORPHA:98915
HP:0001288	Gait disturbance	50485	SMARCAL1	OMIM:242900
HP:0001288	Gait disturbance	1303	COL12A1	ORPHA:610
HP:0001288	Gait disturbance	1291	COL6A1	ORPHA:610
HP:0001288	Gait disturbance	1292	COL6A2	ORPHA:610
HP:0001288	Gait disturbance	1293	COL6A3	ORPHA:610
HP:0001288	Gait disturbance	124583	CANT1	OMIM:251450
HP:0001288	Gait disturbance	3178	HNRNPA1	ORPHA:52430
HP:0001288	Gait disturbance	3181	HNRNPA2B1	ORPHA:52430
HP:0001288	Gait disturbance	9179	AP4M1	ORPHA:280763
HP:0001288	Gait disturbance	11154	AP4S1	ORPHA:280763
HP:0001288	Gait disturbance	5745	PTH1R	OMIM:156400
HP:0001288	Gait disturbance	142680	SLC34A3	ORPHA:157215
HP:0001288	Gait disturbance	6569	SLC34A1	ORPHA:157215
HP:0001288	Gait disturbance	249	ALPL	OMIM:241510
HP:0001288	Gait disturbance	390594	KBTBD13	ORPHA:171439
HP:0001288	Gait disturbance	7170	TPM3	ORPHA:171439
HP:0001288	Gait disturbance	3339	HSPG2	OMIM:255800
HP:0001288	Gait disturbance	51776	MAP3K20	OMIM:617760
HP:0001288	Gait disturbance	91252	SLC39A13	OMIM:612350
HP:0001288	Gait disturbance	6443	SGCB	ORPHA:119
HP:0001288	Gait disturbance	25886	POC1A	OMIM:614813
HP:0001288	Gait disturbance	285489	DOK7	OMIM:254300
HP:0001288	Gait disturbance	79188	TMEM43	ORPHA:98853
HP:0001288	Gait disturbance	23224	SYNE2	ORPHA:98853
HP:0001288	Gait disturbance	5138	PDE2A	OMIM:619150
HP:0001288	Gait disturbance	5913	RAPSN	OMIM:616326
HP:0001288	Gait disturbance	64208	POPDC3	OMIM:618848
HP:0001288	Gait disturbance	6418	SET	OMIM:618106
HP:0001288	Gait disturbance	5805	PTS	ORPHA:13
HP:0001288	Gait disturbance	6390	SDHB	OMIM:619224
HP:0001288	Gait disturbance	2562	GABRB3	ORPHA:2382
HP:0001288	Gait disturbance	5602	MAPK10	ORPHA:2382
HP:0001288	Gait disturbance	23230	VPS13A	ORPHA:2388
HP:0001288	Gait disturbance	89874	SLC25A21	OMIM:618811
HP:0001288	Gait disturbance	2137	EXTL3	ORPHA:508533
HP:0001288	Gait disturbance	3064	HTT	ORPHA:399
HP:0001288	Gait disturbance	6515	SLC2A3	ORPHA:399
HP:0001288	Gait disturbance	4359	MPZ	OMIM:618184
HP:0001288	Gait disturbance	158	ADSL	OMIM:103050
HP:0001288	Gait disturbance	91574	MTRFR	ORPHA:254930
HP:0001288	Gait disturbance	29925	GMPPB	OMIM:615350
HP:0001288	Gait disturbance	2775	GNAO1	OMIM:615473
HP:0001288	Gait disturbance	60684	TRAPPC11	OMIM:615356
HP:0001288	Gait disturbance	7355	SLC35A2	ORPHA:356961
HP:0001288	Gait disturbance	9254	CACNA2D2	OMIM:618501
HP:0001288	Gait disturbance	4747	NEFL	ORPHA:99939
HP:0001288	Gait disturbance	4747	NEFL	ORPHA:101085
HP:0001288	Gait disturbance	1119	CHKA	OMIM:620023
HP:0001288	Gait disturbance	10159	ATP6AP2	ORPHA:93952
HP:0001288	Gait disturbance	9499	MYOT	ORPHA:266
HP:0001288	Gait disturbance	3190	HNRNPK	ORPHA:453504
HP:0001288	Gait disturbance	3190	HNRNPK	ORPHA:352665
HP:0001288	Gait disturbance	8291	DYSF	ORPHA:268
HP:0001288	Gait disturbance	65993	MRPS34	OMIM:617664
HP:0001288	Gait disturbance	80816	ASXL3	OMIM:615485
HP:0001288	Gait disturbance	80816	ASXL3	ORPHA:352577
HP:0001288	Gait disturbance	2782	GNB1	ORPHA:488613
HP:0001288	Gait disturbance	2782	GNB1	OMIM:616973
HP:0001288	Gait disturbance	6487	ST3GAL3	OMIM:615006
HP:0001288	Gait disturbance	4010	LMX1B	ORPHA:495818
HP:0001288	Gait disturbance	6812	STXBP1	ORPHA:495818
HP:0001288	Gait disturbance	166378	AFG2A	OMIM:616577
HP:0001288	Gait disturbance	65082	VPS33A	OMIM:617303
HP:0001288	Gait disturbance	65082	VPS33A	ORPHA:505248
HP:0001288	Gait disturbance	472	ATM	OMIM:208900
HP:0001288	Gait disturbance	5610	EIF2AK2	OMIM:618877
HP:0001288	Gait disturbance	2911	GRM1	OMIM:614831
HP:0001288	Gait disturbance	5689	PSMB1	OMIM:620038
HP:0001288	Gait disturbance	28960	DCPS	OMIM:616459
HP:0001288	Gait disturbance	23431	AP4E1	OMIM:613744
HP:0001288	Gait disturbance	55768	NGLY1	ORPHA:404454
HP:0001288	Gait disturbance	3908	LAMA2	ORPHA:258
HP:0001288	Gait disturbance	23321	TRIM2	OMIM:615490
HP:0001288	Gait disturbance	55154	MSTO1	OMIM:617675
HP:0001288	Gait disturbance	8913	CACNA1G	OMIM:618087
HP:0001288	Gait disturbance	215	ABCD1	ORPHA:139396
HP:0001288	Gait disturbance	7343	UBTF	OMIM:617672
HP:0001288	Gait disturbance	7343	UBTF	ORPHA:500180
HP:0001288	Gait disturbance	6844	VAMP2	OMIM:618760
HP:0001288	Gait disturbance	816	CAMK2B	OMIM:617799
HP:0001288	Gait disturbance	7084	TK2	OMIM:609560
HP:0001288	Gait disturbance	1759	DNM1	OMIM:616346
HP:0001288	Gait disturbance	10381	TUBB3	ORPHA:300570
HP:0001288	Gait disturbance	81857	MED25	ORPHA:464738
HP:0001288	Gait disturbance	170825	GSX2	OMIM:618646
HP:0001288	Gait disturbance	7920	ABHD16A	OMIM:619735
HP:0001288	Gait disturbance	85465	SELENOI	OMIM:618768
HP:0001288	Gait disturbance	10716	TBR1	OMIM:606053
HP:0001288	Gait disturbance	1130	LYST	ORPHA:167
HP:0001288	Gait disturbance	815	CAMK2A	OMIM:618095
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280210
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280234
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280229
HP:0001288	Gait disturbance	5354	PLP1	OMIM:312080
HP:0001288	Gait disturbance	80856	LNPK	OMIM:618090
HP:0001288	Gait disturbance	171023	ASXL1	ORPHA:97297
HP:0001288	Gait disturbance	9839	ZEB2	ORPHA:261552
HP:0001288	Gait disturbance	9839	ZEB2	ORPHA:261537
HP:0001288	Gait disturbance	22872	SEC31A	OMIM:618651
HP:0001288	Gait disturbance	1193	CLIC2	ORPHA:324410
HP:0001288	Gait disturbance	57231	SNX14	OMIM:616354
HP:0001288	Gait disturbance	84314	TMEM107	OMIM:617563
HP:0001288	Gait disturbance	80208	SPG11	ORPHA:2822
HP:0001288	Gait disturbance	80208	SPG11	ORPHA:300605
HP:0001288	Gait disturbance	79583	TMEM231	OMIM:614970
HP:0001288	Gait disturbance	51761	ATP8A2	OMIM:615268
HP:0001288	Gait disturbance	93627	TBCK	ORPHA:488632
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93926
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93924
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93925
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:220386
HP:0001288	Gait disturbance	2253	FGF8	ORPHA:93926
HP:0001288	Gait disturbance	2253	FGF8	ORPHA:93924
HP:0001288	Gait disturbance	2253	FGF8	ORPHA:93925
HP:0001288	Gait disturbance	2253	FGF8	ORPHA:220386
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93926
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93924
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93925
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:220386
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93926
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93924
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93925
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:220386
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93926
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93924
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93925
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:220386
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93926
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93924
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93925
HP:0001288	Gait disturbance	6469	SHH	ORPHA:220386
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93926
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93924
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93925
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:220386
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93926
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93924
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93925
HP:0001288	Gait disturbance	6491	STIL	ORPHA:220386
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93926
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93924
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93925
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:220386
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93926
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93924
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93925
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:220386
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93926
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93924
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93925
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:220386
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93926
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93924
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93925
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:220386
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93926
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93924
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93925
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:220386
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93926
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93924
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93925
HP:0001288	Gait disturbance	50937	CDON	ORPHA:220386
HP:0001288	Gait disturbance	5376	PMP22	ORPHA:90658
HP:0001288	Gait disturbance	2260	FGFR1	ORPHA:93924
HP:0001288	Gait disturbance	2260	FGFR1	ORPHA:220386
HP:0001288	Gait disturbance	11160	ERLIN2	OMIM:611225
HP:0001288	Gait disturbance	11160	ERLIN2	ORPHA:209951
HP:0001288	Gait disturbance	23007	PLCH1	ORPHA:93925
HP:0001288	Gait disturbance	10735	STAG2	ORPHA:93925
HP:0001288	Gait disturbance	10735	STAG2	ORPHA:220386
HP:0001288	Gait disturbance	84947	SERAC1	OMIM:614739
HP:0001288	Gait disturbance	2395	FXN	ORPHA:95
HP:0001288	Gait disturbance	10558	SPTLC1	ORPHA:36386
HP:0001288	Gait disturbance	10558	SPTLC1	ORPHA:300605
HP:0001288	Gait disturbance	25923	ATL3	ORPHA:36386
HP:0001288	Gait disturbance	9517	SPTLC2	ORPHA:36386
HP:0001288	Gait disturbance	51062	ATL1	ORPHA:36386
HP:0001288	Gait disturbance	4534	MTM1	ORPHA:596
HP:0001288	Gait disturbance	1798	DPAGT1	ORPHA:86309
HP:0001288	Gait disturbance	6792	CDKL5	OMIM:300672
HP:0001288	Gait disturbance	6792	CDKL5	ORPHA:3095
HP:0001288	Gait disturbance	5518	PPP2R1A	OMIM:616362
HP:0001288	Gait disturbance	10717	AP4B1	OMIM:614066
HP:0001288	Gait disturbance	388662	SLC6A17	ORPHA:457212
HP:0001288	Gait disturbance	388662	SLC6A17	OMIM:616269
HP:0001288	Gait disturbance	84879	MFSD2A	OMIM:616486
HP:0001288	Gait disturbance	55773	TBC1D23	OMIM:617695
HP:0001288	Gait disturbance	51633	OTUD6B	OMIM:617452
HP:0001288	Gait disturbance	51633	OTUD6B	ORPHA:505237
HP:0001288	Gait disturbance	27089	UQCRQ	OMIM:615159
HP:0001288	Gait disturbance	9354	UBE4A	OMIM:619639
HP:0001288	Gait disturbance	116115	ZNF526	OMIM:619877
HP:0001288	Gait disturbance	285175	UNC80	OMIM:616801
HP:0001288	Gait disturbance	4191	MDH2	OMIM:617339
HP:0001288	Gait disturbance	6134	RPL10	ORPHA:459070
HP:0001288	Gait disturbance	23345	SYNE1	ORPHA:319332
HP:0001288	Gait disturbance	93210	PGAP3	OMIM:615716
HP:0001288	Gait disturbance	64837	KLC2	OMIM:609541
HP:0001288	Gait disturbance	80704	SLC19A3	OMIM:607483
HP:0001288	Gait disturbance	83475	DOHH	OMIM:620066
HP:0001288	Gait disturbance	6609	SMPD1	OMIM:257200
HP:0001288	Gait disturbance	3766	KCNJ10	ORPHA:199343
HP:0001288	Gait disturbance	5700	PSMC1	OMIM:620071
HP:0001288	Gait disturbance	2521	FUS	ORPHA:300605
HP:0001288	Gait disturbance	10280	SIGMAR1	ORPHA:300605
HP:0001288	Gait disturbance	57679	ALS2	ORPHA:300605
HP:0001288	Gait disturbance	54828	BCAS3	OMIM:619641
HP:0001288	Gait disturbance	9276	COPB2	OMIM:619884
HP:0001288	Gait disturbance	10991	SLC38A3	OMIM:619881
HP:0001288	Gait disturbance	6506	SLC1A2	OMIM:617105
HP:0001288	Gait disturbance	10342	TFG	ORPHA:90117
HP:0001288	Gait disturbance	10342	TFG	ORPHA:431329
HP:0001288	Gait disturbance	2555	GABRA2	OMIM:618557
HP:0001288	Gait disturbance	9568	GABBR2	OMIM:617904
HP:0001288	Gait disturbance	9568	GABBR2	ORPHA:3095
HP:0001288	Gait disturbance	3187	HNRNPH1	OMIM:620083
HP:0001288	Gait disturbance	427	ASAH1	ORPHA:2590
HP:0001288	Gait disturbance	7143	TNR	OMIM:619653
HP:0001288	Gait disturbance	23162	MAPK8IP3	OMIM:618443
HP:0001288	Gait disturbance	197258	FCSK	OMIM:618324
HP:0001288	Gait disturbance	51227	PIGP	OMIM:617599
HP:0001288	Gait disturbance	3785	KCNQ2	ORPHA:439218
HP:0001288	Gait disturbance	50628	GEMIN4	OMIM:617913
HP:0001288	Gait disturbance	122622	ADSS1	ORPHA:482601
HP:0001288	Gait disturbance	2055	CLN8	ORPHA:1947
HP:0001288	Gait disturbance	64116	SLC39A8	ORPHA:468699
HP:0001288	Gait disturbance	64116	SLC39A8	OMIM:616721
HP:0001288	Gait disturbance	81846	SBF2	ORPHA:99956
HP:0001288	Gait disturbance	1487	CTBP1	OMIM:617915
HP:0001288	Gait disturbance	4556	MT-TE	ORPHA:2596
HP:0001288	Gait disturbance	10397	NDRG1	ORPHA:99950
HP:0001288	Gait disturbance	58497	PRUNE1	OMIM:617481
HP:0001288	Gait disturbance	58497	PRUNE1	ORPHA:544469
HP:0001288	Gait disturbance	80025	PANK2	ORPHA:216866
HP:0001288	Gait disturbance	26173	INTS1	OMIM:618571
HP:0001288	Gait disturbance	55656	INTS8	OMIM:618572
HP:0001288	Gait disturbance	51693	TRAPPC2L	OMIM:618331
HP:0001288	Gait disturbance	4208	MEF2C	OMIM:613443
HP:0001288	Gait disturbance	5813	PURA	OMIM:616158
HP:0001288	Gait disturbance	22907	DHX30	OMIM:617804
HP:0001288	Gait disturbance	54332	GDAP1	ORPHA:99948
HP:0001288	Gait disturbance	79628	SH3TC2	ORPHA:99949
HP:0001288	Gait disturbance	7407	VARS1	OMIM:617802
HP:0001288	Gait disturbance	400916	CHCHD10	ORPHA:276435
HP:0001288	Gait disturbance	6857	SYT1	OMIM:618218
HP:0001288	Gait disturbance	10695	CNPY3	OMIM:617929
HP:0001288	Gait disturbance	4000	LMNA	ORPHA:98856
HP:0001288	Gait disturbance	1861	TOR1A	OMIM:128100
HP:0001288	Gait disturbance	54808	DYM	ORPHA:239
HP:0001288	Gait disturbance	1203	CLN5	ORPHA:228360
HP:0001288	Gait disturbance	55906	ZC4H2	OMIM:301041
HP:0001288	Gait disturbance	10059	DNM1L	ORPHA:330050
HP:0001288	Gait disturbance	30000	TNPO2	OMIM:619556
HP:0001288	Gait disturbance	23516	SLC39A14	OMIM:617013
HP:0001288	Gait disturbance	8733	GPAA1	OMIM:617810
HP:0001288	Gait disturbance	51412	ACTL6B	OMIM:618468
HP:0001288	Gait disturbance	51412	ACTL6B	OMIM:618470
HP:0001288	Gait disturbance	6323	SCN1A	OMIM:619317
HP:0001288	Gait disturbance	4703	NEB	OMIM:256030
HP:0001288	Gait disturbance	6328	SCN3A	OMIM:617938
HP:0001288	Gait disturbance	22854	NTNG1	ORPHA:3095
HP:0001288	Gait disturbance	4204	MECP2	ORPHA:3095
HP:0001288	Gait disturbance	4204	MECP2	ORPHA:778
HP:0001288	Gait disturbance	4204	MECP2	OMIM:300260
HP:0001288	Gait disturbance	8243	SMC1A	ORPHA:3095
HP:0001288	Gait disturbance	8243	SMC1A	ORPHA:220386
HP:0001288	Gait disturbance	6567	SLC16A2	OMIM:300523
HP:0001288	Gait disturbance	11277	TREX1	OMIM:225750
HP:0001288	Gait disturbance	116461	TSEN15	OMIM:617026
HP:0001288	Gait disturbance	10659	CELF2	OMIM:619561
HP:0001288	Gait disturbance	63895	PIEZO2	OMIM:617146
HP:0001288	Gait disturbance	2902	GRIN1	OMIM:617820
HP:0001288	Gait disturbance	2902	GRIN1	OMIM:614254
HP:0001288	Gait disturbance	22880	MORC2	ORPHA:466768
HP:0001288	Gait disturbance	5010	CLDN11	OMIM:619328
HP:0001288	Gait disturbance	6513	SLC2A1	OMIM:608885
HP:0001288	Gait disturbance	2561	GABRB2	OMIM:617829
HP:0001288	Gait disturbance	443	ASPA	ORPHA:314911
HP:0001288	Gait disturbance	2891	GRIA2	OMIM:618917
HP:0001288	Gait disturbance	79158	GNPTAB	ORPHA:576
HP:0001288	Gait disturbance	25929	GEMIN5	OMIM:619333
HP:0001288	Gait disturbance	56915	EXOSC5	OMIM:619576
HP:0001288	Gait disturbance	23221	RHOBTB2	OMIM:618004
HP:0001288	Gait disturbance	55572	FOXRED1	OMIM:618241
HP:0001288	Gait disturbance	9512	PMPCB	OMIM:617954
HP:0001288	Gait disturbance	4915	NTRK2	OMIM:617830
HP:0001288	Gait disturbance	7965	AIMP2	OMIM:618006
HP:0001288	Gait disturbance	27315	PGAP2	OMIM:614207
HP:0001288	Gait disturbance	29920	PYCR2	ORPHA:481152
HP:0001288	Gait disturbance	29920	PYCR2	OMIM:616420
HP:0001288	Gait disturbance	9361	LONP1	ORPHA:79243
HP:0001288	Gait disturbance	5160	PDHA1	ORPHA:79243
HP:0001288	Gait disturbance	2898	GRIK2	OMIM:619580
HP:0001288	Gait disturbance	1781	DYNC1I2	OMIM:618492
HP:0001288	Gait disturbance	774	CACNA1B	OMIM:618497
HP:0001288	Gait disturbance	84188	FAR1	ORPHA:438178
HP:0001288	Gait disturbance	54681	P4HTM	OMIM:618493
HP:0001288	Gait disturbance	1822	ATN1	OMIM:618494
HP:0001288	Gait disturbance	4761	NEUROD2	OMIM:618374
HP:0001288	Gait disturbance	523	ATP6V1A	OMIM:618012
HP:0001288	Gait disturbance	2257	FGF12	OMIM:617166
HP:0001288	Gait disturbance	128637	TBC1D20	OMIM:615663
HP:0001288	Gait disturbance	6304	SATB1	OMIM:619229
HP:0001288	Gait disturbance	54551	MAGEL2	OMIM:615547
HP:0001288	Gait disturbance	57531	HACE1	OMIM:616756
HP:0001288	Gait disturbance	6611	SMS	ORPHA:3063
HP:0001288	Gait disturbance	94005	PIGS	OMIM:618143
HP:0001288	Gait disturbance	57468	SLC12A5	OMIM:616645
HP:0001288	Gait disturbance	10815	CPLX1	OMIM:617976
HP:0001288	Gait disturbance	1213	CLTC	OMIM:617854
HP:0001288	Gait disturbance	22931	RAB18	OMIM:614222
HP:0001288	Gait disturbance	2318	FLNC	ORPHA:63273
HP:0001288	Gait disturbance	9894	TELO2	ORPHA:488642
HP:0001288	Gait disturbance	85440	DOCK7	ORPHA:411986
HP:0001288	Gait disturbance	56270	WDR45B	OMIM:617977
HP:0001288	Gait disturbance	246329	STAC3	ORPHA:168572
HP:0001288	Gait disturbance	378884	NHLRC1	ORPHA:501
HP:0001288	Gait disturbance	7957	EPM2A	ORPHA:501
HP:0001288	Gait disturbance	10128	LRPPRC	ORPHA:70472
HP:0001288	Gait disturbance	9829	DNAJC6	ORPHA:391411
HP:0001288	Gait disturbance	5420	PODXL	ORPHA:391411
HP:0001288	Gait disturbance	8867	SYNJ1	ORPHA:391411
HP:0001288	Gait disturbance	55210	ATAD3A	OMIM:617183
HP:0001288	Gait disturbance	26503	SLC17A5	OMIM:604369
HP:0001288	Gait disturbance	9325	TRIP4	OMIM:617066
HP:0001288	Gait disturbance	291	SLC25A4	OMIM:617184
HP:0001288	Gait disturbance	22983	MAST1	OMIM:618273
HP:0001288	Gait disturbance	23287	AGTPBP1	OMIM:618276
HP:0001288	Gait disturbance	79143	MBOAT7	OMIM:617188
HP:0001288	Gait disturbance	92335	STRADA	OMIM:611087
HP:0001288	Gait disturbance	1806	DPYD	ORPHA:1675
HP:0001288	Gait disturbance	2893	GRIA4	OMIM:617864
HP:0001288	Gait disturbance	23204	ARL6IP1	OMIM:615685
HP:0001288	Gait disturbance	6509	SLC1A4	OMIM:616657
HP:0001288	Gait disturbance	54676	GTPBP2	OMIM:617988
HP:0001288	Gait disturbance	8911	CACNA1I	OMIM:620114
HP:0001288	Gait disturbance	84628	NTNG2	OMIM:618718
HP:0001288	Gait disturbance	6904	TBCD	OMIM:617193
HP:0001288	Gait disturbance	777	CACNA1E	OMIM:618285
HP:0001288	Gait disturbance	9197	SLC33A1	OMIM:614482
HP:0001288	Gait disturbance	1315	COPB1	OMIM:619255
HP:0001288	Gait disturbance	29954	POMT2	OMIM:613156
HP:0001288	Gait disturbance	29954	POMT2	ORPHA:206559
HP:0001288	Gait disturbance	10585	POMT1	OMIM:613155
HP:0001288	Gait disturbance	2733	GLE1	OMIM:611890
HP:0001288	Gait disturbance	738	VPS51	OMIM:618606
HP:0001288	Gait disturbance	2806	GOT2	OMIM:618721
HP:0001288	Gait disturbance	1678	TIMM8A	ORPHA:52368
HP:0001288	Gait disturbance	129285	PPP1R21	OMIM:619383
HP:0001288	Gait disturbance	27072	VPS41	OMIM:619389
HP:0001288	Gait disturbance	1968	EIF2S3	OMIM:300148
HP:0001288	Gait disturbance	56947	MFF	OMIM:617086
HP:0001288	Gait disturbance	1496	CTNNA2	OMIM:618174
HP:0001288	Gait disturbance	8803	SUCLA2	OMIM:612073
HP:0001288	Gait disturbance	547	KIF1A	OMIM:614255
HP:0001288	Gait disturbance	55753	OGDHL	OMIM:619701
HP:0001288	Gait disturbance	9935	MAFB	OMIM:166300
HP:0001288	Gait disturbance	1756	DMD	ORPHA:206546
HP:0001288	Gait disturbance	9990	SLC12A6	OMIM:218000
HP:0001288	Gait disturbance	7072	TIA1	OMIM:604454
HP:0001288	Gait disturbance	7072	TIA1	ORPHA:603
HP:0001288	Gait disturbance	4141	MARS1	OMIM:616280
HP:0001288	Gait disturbance	7273	TTN	OMIM:600334
HP:0001288	Gait disturbance	7273	TTN	ORPHA:609
HP:0001288	Gait disturbance	65260	COA7	OMIM:618387
HP:0001288	Gait disturbance	55697	VAC14	OMIM:617054
HP:0001288	Gait disturbance	3094	HINT1	ORPHA:324442
HP:0001288	Gait disturbance	4625	MYH7	ORPHA:437572
HP:0001288	Gait disturbance	8988	HSPB3	OMIM:613376
HP:0001288	Gait disturbance	7415	VCP	ORPHA:435387
HP:0001288	Gait disturbance	9927	MFN2	OMIM:609260
HP:0001288	Gait disturbance	9927	MFN2	ORPHA:99947
HP:0001288	Gait disturbance	9927	MFN2	OMIM:601152
HP:0001288	Gait disturbance	50717	DCAF8	OMIM:610100
HP:0001288	Gait disturbance	5165	PDK3	OMIM:300905
HP:0001288	Gait disturbance	5165	PDK3	ORPHA:352675
HP:0001288	Gait disturbance	5428	POLG	OMIM:258450
HP:0001288	Gait disturbance	55775	TDP1	ORPHA:94124
HP:0001288	Gait disturbance	55775	TDP1	OMIM:607250
HP:0001288	Gait disturbance	3315	HSPB1	OMIM:606595
HP:0001288	Gait disturbance	3315	HSPB1	ORPHA:99940
HP:0001288	Gait disturbance	7879	RAB7A	OMIM:600882
HP:0001288	Gait disturbance	1959	EGR2	OMIM:607678
HP:0001288	Gait disturbance	1959	EGR2	OMIM:145900
HP:0001288	Gait disturbance	55958	KLHL9	ORPHA:399081
HP:0001288	Gait disturbance	476	ATP1A1	OMIM:618036
HP:0001288	Gait disturbance	5375	PMP2	OMIM:618279
HP:0001288	Gait disturbance	23095	KIF1B	OMIM:118210
HP:0001288	Gait disturbance	3035	HARS1	ORPHA:488333
HP:0001288	Gait disturbance	3035	HARS1	OMIM:616625
HP:0001288	Gait disturbance	90678	LRSAM1	OMIM:614436
HP:0001288	Gait disturbance	23299	BICD2	OMIM:615290
HP:0001288	Gait disturbance	2273	FHL1	OMIM:300695
HP:0001288	Gait disturbance	8878	SQSTM1	OMIM:617158
HP:0001288	Gait disturbance	8878	SQSTM1	ORPHA:603
HP:0001288	Gait disturbance	57449	PLEKHG5	OMIM:615376
HP:0001288	Gait disturbance	91137	SLC25A46	OMIM:616505
HP:0001288	Gait disturbance	9997	SCO2	ORPHA:521411
HP:0001288	Gait disturbance	10020	GNE	ORPHA:602
HP:0001288	Gait disturbance	8139	GAN	OMIM:256850
HP:0001288	Gait disturbance	4547	MTTP	ORPHA:14
HP:0001288	Gait disturbance	55532	SLC30A10	OMIM:613280
HP:0001288	Gait disturbance	59345	GNB4	OMIM:615185
HP:0001288	Gait disturbance	3508	IGHMBP2	OMIM:616155
HP:0001288	Gait disturbance	64423	INF2	OMIM:614455
HP:0001288	Gait disturbance	57716	PRX	OMIM:614895
HP:0001288	Gait disturbance	57716	PRX	OMIM:145900
HP:0001288	Gait disturbance	1337	COX6A1	OMIM:616039
HP:0001288	Gait disturbance	3735	KARS1	OMIM:613641
HP:0001288	Gait disturbance	2903	GRIN2A	ORPHA:98818
HP:0001288	Gait disturbance	50846	DHH	ORPHA:168563
HP:0001288	Gait disturbance	8729	GBF1	OMIM:606483
HP:0001288	Gait disturbance	80036	TRPM3	OMIM:620224
HP:0001288	Gait disturbance	81790	RNF170	OMIM:608984
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276244
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276241
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276238
HP:0001288	Gait disturbance	6638	SNRPN	OMIM:105830
HP:0001288	Gait disturbance	6335	SCN9A	ORPHA:33069
HP:0001288	Gait disturbance	6326	SCN2A	ORPHA:33069
HP:0001288	Gait disturbance	2554	GABRA1	ORPHA:33069
HP:0001288	Gait disturbance	6324	SCN1B	ORPHA:33069
HP:0001288	Gait disturbance	57526	PCDH19	ORPHA:33069
HP:0001288	Gait disturbance	2566	GABRG2	ORPHA:33069
HP:0001288	Gait disturbance	112476	PRRT2	ORPHA:569
HP:0001288	Gait disturbance	79152	FA2H	ORPHA:329308
HP:0001288	Gait disturbance	2705	GJB1	ORPHA:1175
HP:0001288	Gait disturbance	2747	GLUD2	OMIM:168600
HP:0001288	Gait disturbance	126	ADH1C	OMIM:168600
HP:0001288	Gait disturbance	4576	MT-TT	OMIM:168600
HP:0001288	Gait disturbance	9627	SNCAIP	OMIM:168600
HP:0001288	Gait disturbance	1639	DCTN1	OMIM:168605
HP:0001288	Gait disturbance	5654	HTRA1	OMIM:600142
HP:0001288	Gait disturbance	10730	YME1L1	OMIM:617302
HP:0001288	Gait disturbance	271	AMPD2	ORPHA:401805
HP:0001288	Gait disturbance	271	AMPD2	OMIM:615686
HP:0001288	Gait disturbance	2074	ERCC6	OMIM:278800
HP:0001288	Gait disturbance	10667	FARS2	ORPHA:466722
HP:0001288	Gait disturbance	51343	FZR1	OMIM:620145
HP:0001288	Gait disturbance	8367	H4C5	OMIM:619950
HP:0001288	Gait disturbance	2200	FBN1	OMIM:614185
HP:0001288	Gait disturbance	3032	HADHB	ORPHA:746
HP:0001288	Gait disturbance	3030	HADHA	ORPHA:746
HP:0001288	Gait disturbance	84340	GFM2	ORPHA:565624
HP:0001288	Gait disturbance	11011	TLK2	OMIM:618050
HP:0001288	Gait disturbance	55181	SMG8	OMIM:619268
HP:0001288	Gait disturbance	9531	BAG3	OMIM:612954
HP:0001288	Gait disturbance	50640	PNPLA8	OMIM:251950
HP:0001288	Gait disturbance	3708	ITPR1	OMIM:117360
HP:0001288	Gait disturbance	3781	KCNN2	OMIM:619724
HP:0001288	Gait disturbance	2332	FMR1	OMIM:300623
HP:0001288	Gait disturbance	65217	PCDH15	OMIM:602083
HP:0001288	Gait disturbance	84274	COQ5	OMIM:619028
HP:0001288	Gait disturbance	5351	PLOD1	ORPHA:1900
HP:0001288	Gait disturbance	55343	SLC35C1	ORPHA:99843
HP:0001288	Gait disturbance	57465	TBC1D24	OMIM:605021
HP:0001288	Gait disturbance	182	JAG1	OMIM:619574
HP:0001288	Gait disturbance	4137	MAPT	ORPHA:240094
HP:0001288	Gait disturbance	4929	NR4A2	OMIM:619911
HP:0001288	Gait disturbance	23065	EMC1	ORPHA:480898
HP:0002506	Diffuse cerebral atrophy	2074	ERCC6	OMIM:214150
HP:0002506	Diffuse cerebral atrophy	5654	HTRA1	ORPHA:199354
HP:0002506	Diffuse cerebral atrophy	6904	TBCD	OMIM:617193
HP:0002506	Diffuse cerebral atrophy	10059	DNM1L	ORPHA:330050
HP:0002506	Diffuse cerebral atrophy	27235	COQ2	OMIM:607426
HP:0002506	Diffuse cerebral atrophy	64601	VPS16	OMIM:619291
HP:0002506	Diffuse cerebral atrophy	10466	COG5	ORPHA:263487
HP:0002506	Diffuse cerebral atrophy	7384	UQCRC1	OMIM:619279
HP:0002506	Diffuse cerebral atrophy	22796	COG2	OMIM:617395
HP:0002506	Diffuse cerebral atrophy	22796	COG2	ORPHA:435934
HP:0002506	Diffuse cerebral atrophy	10159	ATP6AP2	ORPHA:363654
HP:0002506	Diffuse cerebral atrophy	10352	WARS2	OMIM:617710
HP:0002506	Diffuse cerebral atrophy	1759	DNM1	OMIM:616346
HP:0002506	Diffuse cerebral atrophy	686	BTD	OMIM:253260
HP:0002506	Diffuse cerebral atrophy	2581	GALC	ORPHA:206436
HP:0002506	Diffuse cerebral atrophy	2581	GALC	OMIM:245200
HP:0002506	Diffuse cerebral atrophy	5660	PSAP	ORPHA:206436
HP:0002506	Diffuse cerebral atrophy	10667	FARS2	OMIM:614946
HP:0002506	Diffuse cerebral atrophy	1717	DHCR7	OMIM:270400
HP:0002506	Diffuse cerebral atrophy	2332	FMR1	OMIM:300623
HP:0002506	Diffuse cerebral atrophy	79587	CARS2	ORPHA:477774
HP:0002506	Diffuse cerebral atrophy	23203	PMPCA	ORPHA:1170
HP:0002506	Diffuse cerebral atrophy	2232	FDXR	ORPHA:543470
HP:0002506	Diffuse cerebral atrophy	8722	CTSF	OMIM:615362
HP:0002506	Diffuse cerebral atrophy	5917	RARS1	ORPHA:438114
HP:0002506	Diffuse cerebral atrophy	2903	GRIN2A	ORPHA:289266
HP:0002506	Diffuse cerebral atrophy	5575	PRKAR1B	ORPHA:412066
HP:0002506	Diffuse cerebral atrophy	2720	GLB1	OMIM:230650
HP:0002506	Diffuse cerebral atrophy	2720	GLB1	ORPHA:79255
HP:0002506	Diffuse cerebral atrophy	57465	TBC1D24	ORPHA:352596
HP:0002506	Diffuse cerebral atrophy	51473	DCDC2	ORPHA:84081
HP:0002506	Diffuse cerebral atrophy	91147	TMEM67	ORPHA:84081
HP:0002506	Diffuse cerebral atrophy	4338	MOCS2	OMIM:252160
HP:0002506	Diffuse cerebral atrophy	9440	MED17	OMIM:613668
HP:0002506	Diffuse cerebral atrophy	6792	CDKL5	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	3736	KCNA1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	9091	PIGQ	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2775	GNAO1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	81603	TRIM8	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2902	GRIN1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	79751	SLC25A22	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	150094	SIK1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	8573	CASK	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	23312	DMXL2	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2917	GRM7	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	170302	ARX	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	11284	PNKP	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6326	SCN2A	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	51227	PIGP	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6324	SCN1B	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	4761	NEUROD2	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6908	TBP	OMIM:607136
HP:0002506	Diffuse cerebral atrophy	7074	TIAM1	OMIM:619908
HP:0002506	Diffuse cerebral atrophy	23400	ATP13A2	ORPHA:314632
HP:0002506	Diffuse cerebral atrophy	3028	HSD17B10	ORPHA:391428
HP:0006955	Olivopontocerebellar hypoplasia	283989	TSEN54	ORPHA:166063
HP:0006955	Olivopontocerebellar hypoplasia	283989	TSEN54	OMIM:610204
HP:0006955	Olivopontocerebellar hypoplasia	29925	GMPPB	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	79147	FKRP	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	29954	POMT2	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	84197	POMK	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	10585	POMT1	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	114034	TOE1	ORPHA:284339
HP:0006955	Olivopontocerebellar hypoplasia	9562	MINPP1	ORPHA:284339
HP:0006955	Olivopontocerebellar hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0006955	Olivopontocerebellar hypoplasia	6311	ATXN2	ORPHA:98756
HP:0006955	Olivopontocerebellar hypoplasia	25914	RTTN	ORPHA:468631
HP:0006955	Olivopontocerebellar hypoplasia	5373	PMM2	OMIM:212065
HP:0002505	Loss of ambulation	773	CACNA1A	OMIM:183086
HP:0002505	Loss of ambulation	4099	MAG	OMIM:616680
HP:0002505	Loss of ambulation	92935	MARS2	OMIM:611390
HP:0002505	Loss of ambulation	3094	HINT1	ORPHA:324442
HP:0002505	Loss of ambulation	1144	CHRND	OMIM:616321
HP:0002505	Loss of ambulation	2132	EXT2	OMIM:616682
HP:0002505	Loss of ambulation	4137	MAPT	ORPHA:240094
HP:0002505	Loss of ambulation	50484	RRM2B	ORPHA:329336
HP:0002505	Loss of ambulation	246243	RNASEH1	ORPHA:329336
HP:0002505	Loss of ambulation	246243	RNASEH1	OMIM:616479
HP:0002505	Loss of ambulation	2066	ERBB4	OMIM:615515
HP:0002505	Loss of ambulation	1756	DMD	OMIM:310200
HP:0002505	Loss of ambulation	53616	ADAM22	OMIM:617933
HP:0002505	Loss of ambulation	7415	VCP	OMIM:167320
HP:0002505	Loss of ambulation	8291	DYSF	OMIM:253601
HP:0002505	Loss of ambulation	8291	DYSF	OMIM:606768
HP:0002505	Loss of ambulation	8291	DYSF	ORPHA:45448
HP:0002505	Loss of ambulation	57679	ALS2	OMIM:606353
HP:0002505	Loss of ambulation	4758	NEU1	ORPHA:93399
HP:0002505	Loss of ambulation	10049	DNAJB6	OMIM:603511
HP:0002505	Loss of ambulation	10049	DNAJB6	ORPHA:34516
HP:0002505	Loss of ambulation	5339	PLEC	ORPHA:254361
HP:0002505	Loss of ambulation	5660	PSAP	OMIM:249900
HP:0002505	Loss of ambulation	6792	CDKL5	ORPHA:3095
HP:0002505	Loss of ambulation	22854	NTNG1	ORPHA:3095
HP:0002505	Loss of ambulation	9568	GABBR2	ORPHA:3095
HP:0002505	Loss of ambulation	4204	MECP2	ORPHA:3095
HP:0002505	Loss of ambulation	8243	SMC1A	ORPHA:3095
HP:0002505	Loss of ambulation	2581	GALC	ORPHA:206443
HP:0002505	Loss of ambulation	3714	JAG2	OMIM:619566
HP:0002505	Loss of ambulation	729920	CRPPA	OMIM:616052
HP:0002505	Loss of ambulation	729920	CRPPA	ORPHA:352479
HP:0002505	Loss of ambulation	6443	SGCB	OMIM:604286
HP:0002505	Loss of ambulation	9829	DNAJC6	OMIM:615528
HP:0002505	Loss of ambulation	5189	PEX1	OMIM:214100
HP:0002505	Loss of ambulation	25778	DSTYK	OMIM:270750
HP:0002505	Loss of ambulation	343641	TGM6	OMIM:613908
HP:0002505	Loss of ambulation	29925	GMPPB	ORPHA:370968
HP:0002505	Loss of ambulation	79147	FKRP	ORPHA:370968
HP:0002505	Loss of ambulation	29954	POMT2	ORPHA:370968
HP:0002505	Loss of ambulation	9215	LARGE1	ORPHA:370968
HP:0002505	Loss of ambulation	10585	POMT1	ORPHA:370968
HP:0002505	Loss of ambulation	57190	SELENON	OMIM:602771
HP:0002505	Loss of ambulation	27235	COQ2	OMIM:607426
HP:0002505	Loss of ambulation	64601	VPS16	OMIM:619291
HP:0002505	Loss of ambulation	84340	GFM2	ORPHA:565624
HP:0002505	Loss of ambulation	8888	MCM3AP	OMIM:618124
HP:0002505	Loss of ambulation	7345	UCHL1	OMIM:615491
HP:0002505	Loss of ambulation	55572	FOXRED1	OMIM:618241
HP:0002505	Loss of ambulation	103	ADAR	OMIM:615010
HP:0002505	Loss of ambulation	103	ADAR	ORPHA:225154
HP:0002505	Loss of ambulation	64207	IRF2BPL	OMIM:618088
HP:0002505	Loss of ambulation	22954	TRIM32	OMIM:254110
HP:0002505	Loss of ambulation	4358	MPV17	OMIM:256810
HP:0002505	Loss of ambulation	2058	EPRS1	OMIM:617951
HP:0002505	Loss of ambulation	10342	TFG	OMIM:615658
HP:0002505	Loss of ambulation	55157	DARS2	ORPHA:137898
HP:0002505	Loss of ambulation	4625	MYH7	OMIM:255160
HP:0002505	Loss of ambulation	1201	CLN3	ORPHA:228346
HP:0002505	Loss of ambulation	1201	CLN3	OMIM:204200
HP:0002505	Loss of ambulation	6445	SGCG	OMIM:253700
HP:0002505	Loss of ambulation	2010	EMD	OMIM:310300
HP:0002505	Loss of ambulation	9570	GOSR2	OMIM:620166
HP:0002505	Loss of ambulation	9570	GOSR2	OMIM:614018
HP:0002505	Loss of ambulation	54332	GDAP1	ORPHA:101097
HP:0002505	Loss of ambulation	9217	VAPB	OMIM:608627
HP:0002505	Loss of ambulation	9217	VAPB	OMIM:182980
HP:0002505	Loss of ambulation	51102	MECR	OMIM:617282
HP:0002505	Loss of ambulation	79152	FA2H	ORPHA:329308
HP:0002505	Loss of ambulation	83636	C19orf12	OMIM:614298
HP:0002505	Loss of ambulation	83636	C19orf12	OMIM:615043
HP:0002505	Loss of ambulation	4700	NDUFA6	OMIM:618253
HP:0002505	Loss of ambulation	4041	LRP5	ORPHA:2788
HP:0002505	Loss of ambulation	3178	HNRNPA1	OMIM:615424
HP:0002505	Loss of ambulation	60	ACTB	OMIM:607371
HP:0002505	Loss of ambulation	23230	VPS13A	ORPHA:2388
HP:0002505	Loss of ambulation	4000	LMNA	OMIM:616516
HP:0002505	Loss of ambulation	54840	APTX	OMIM:208920
HP:0002505	Loss of ambulation	8398	PLA2G6	OMIM:612953
HP:0002505	Loss of ambulation	84668	HYCC1	OMIM:610532
HP:0002505	Loss of ambulation	10755	GIPC1	ORPHA:98897
HP:0002505	Loss of ambulation	100996717	NOTCH2NLC	ORPHA:98897
HP:0002505	Loss of ambulation	3028	HSD17B10	ORPHA:391428
HP:0002505	Loss of ambulation	55697	VAC14	OMIM:617054
HP:0002505	Loss of ambulation	11154	AP4S1	OMIM:614067
HP:0002505	Loss of ambulation	9453	GGPS1	OMIM:619518
HP:0002505	Loss of ambulation	90624	LYRM7	OMIM:615838
HP:0002505	Loss of ambulation	6606	SMN1	OMIM:253400
HP:0002505	Loss of ambulation	6607	SMN2	OMIM:253400
HP:0002505	Loss of ambulation	6305	SBF1	OMIM:615284
HP:0002505	Loss of ambulation	55958	KLHL9	ORPHA:399081
HP:0002505	Loss of ambulation	2273	FHL1	OMIM:300717
HP:0002505	Loss of ambulation	219285	SAMD9L	OMIM:619806
HP:0002505	Loss of ambulation	9409	PEX16	OMIM:614877
HP:0002505	Loss of ambulation	11149	BVES	OMIM:616812
HP:0002505	Loss of ambulation	11155	LDB3	ORPHA:98912
HP:0002505	Loss of ambulation	10667	FARS2	ORPHA:466722
HP:0002505	Loss of ambulation	56652	TWNK	OMIM:271245
HP:0002505	Loss of ambulation	4508	MT-ATP6	ORPHA:225154
HP:0002505	Loss of ambulation	23636	NUP62	ORPHA:225154
HP:0002505	Loss of ambulation	1203	CLN5	OMIM:256731
HP:0002505	Loss of ambulation	6389	SDHA	ORPHA:3208
HP:0002505	Loss of ambulation	6390	SDHB	ORPHA:3208
HP:0002505	Loss of ambulation	6392	SDHD	ORPHA:3208
HP:0002505	Loss of ambulation	644096	SDHAF1	ORPHA:3208
HP:0002505	Loss of ambulation	1674	DES	ORPHA:98909
HP:0002505	Loss of ambulation	10133	OPTN	OMIM:613435
HP:0002505	Loss of ambulation	1384	CRAT	OMIM:617917
HP:0002505	Loss of ambulation	5354	PLP1	OMIM:312920
HP:0002505	Loss of ambulation	85021	REPS1	OMIM:617916
HP:0002505	Loss of ambulation	3954	LETM1	OMIM:620089
HP:0002505	Loss of ambulation	5832	ALDH18A1	ORPHA:447757
HP:0002505	Loss of ambulation	3098	HK1	ORPHA:99953
HP:0002505	Loss of ambulation	2055	CLN8	OMIM:600143
HP:0002505	Loss of ambulation	10280	SIGMAR1	OMIM:614373
HP:0002505	Loss of ambulation	57716	PRX	OMIM:614895
HP:0002505	Loss of ambulation	6622	SNCA	OMIM:168601
HP:0002505	Loss of ambulation	23516	SLC39A14	ORPHA:521406
HP:0002505	Loss of ambulation	55703	POLR3B	OMIM:607694
HP:0002505	Loss of ambulation	11128	POLR3A	OMIM:607694
HP:0002505	Loss of ambulation	10479	SLC9A6	OMIM:300243
HP:0002505	Loss of ambulation	9499	MYOT	ORPHA:98911
HP:0002505	Loss of ambulation	7084	TK2	OMIM:609560
HP:0002505	Loss of ambulation	51218	GLRX5	ORPHA:401866
HP:0002505	Loss of ambulation	8803	SUCLA2	OMIM:612073
HP:0032807	Neonatal seizure	5610	EIF2AK2	OMIM:619687
HP:0032810	Focal sensory seizure with cephalic sensation	5649	RELN	OMIM:600512
HP:0032810	Focal sensory seizure with cephalic sensation	64780	MICAL1	OMIM:600512
HP:0032810	Focal sensory seizure with cephalic sensation	9211	LGI1	OMIM:600512
HP:0032810	Focal sensory seizure with cephalic sensation	57526	PCDH19	OMIM:300088
HP:0006960	Choroid plexus calcification	2778	GNAS	OMIM:612462
HP:0006960	Choroid plexus calcification	2778	GNAS	OMIM:103580
HP:0006960	Choroid plexus calcification	2778	GNAS	ORPHA:79443
HP:0006960	Choroid plexus calcification	2778	GNAS	ORPHA:79444
HP:0006960	Choroid plexus calcification	1075	CTSC	OMIM:245000
HP:0006961	Jerky head movements	1737	DLAT	OMIM:245348
HP:0006961	Jerky head movements	6513	SLC2A1	ORPHA:64280
HP:0006961	Jerky head movements	2562	GABRB3	ORPHA:64280
HP:0006961	Jerky head movements	2554	GABRA1	ORPHA:64280
HP:0006961	Jerky head movements	8912	CACNA1H	ORPHA:64280
HP:0006961	Jerky head movements	8629	JRK	ORPHA:64280
HP:0006961	Jerky head movements	2566	GABRG2	ORPHA:64280
HP:0006961	Jerky head movements	4137	MAPT	ORPHA:240103
HP:0006961	Jerky head movements	5621	PRNP	ORPHA:157941
HP:0006961	Jerky head movements	6843	VAMP1	ORPHA:251282
HP:0006961	Jerky head movements	51604	PIGT	ORPHA:369837
HP:0006962	Gait instability, worse in the dark	81790	RNF170	OMIM:608984
HP:0006964	Cerebral cortical neurodegeneration	5428	POLG	OMIM:203700
HP:0006965	Acute necrotizing encephalopathy	4724	NDUFS4	OMIM:252010
HP:0001331	Absent septum pellucidum	8820	HESX1	OMIM:182230
HP:0001331	Absent septum pellucidum	8820	HESX1	ORPHA:95494
HP:0001331	Absent septum pellucidum	8820	HESX1	ORPHA:3157
HP:0001331	Absent septum pellucidum	4784	NFIX	OMIM:602535
HP:0001331	Absent septum pellucidum	6748	SSR4	ORPHA:370927
HP:0001331	Absent septum pellucidum	2263	FGFR2	ORPHA:87
HP:0001331	Absent septum pellucidum	2263	FGFR2	OMIM:101200
HP:0001331	Absent septum pellucidum	51360	MBTPS2	ORPHA:2273
HP:0001331	Absent septum pellucidum	23007	PLCH1	OMIM:619895
HP:0001331	Absent septum pellucidum	4593	MUSK	OMIM:208150
HP:0001331	Absent septum pellucidum	23019	CNOT1	OMIM:618500
HP:0001331	Absent septum pellucidum	1349	COX7B	OMIM:309801
HP:0001331	Absent septum pellucidum	1349	COX7B	ORPHA:2556
HP:0001331	Absent septum pellucidum	3052	HCCS	OMIM:309801
HP:0001331	Absent septum pellucidum	3052	HCCS	ORPHA:2556
HP:0001331	Absent septum pellucidum	54539	NDUFB11	OMIM:309801
HP:0001331	Absent septum pellucidum	54539	NDUFB11	ORPHA:2556
HP:0001331	Absent septum pellucidum	9791	PTDSS1	ORPHA:2658
HP:0001331	Absent septum pellucidum	4659	PPP1R12A	OMIM:618820
HP:0001331	Absent septum pellucidum	2146	EZH2	OMIM:277590
HP:0001331	Absent septum pellucidum	2260	FGFR1	ORPHA:2396
HP:0001331	Absent septum pellucidum	2260	FGFR1	ORPHA:3157
HP:0001331	Absent septum pellucidum	3845	KRAS	ORPHA:2396
HP:0001331	Absent septum pellucidum	3845	KRAS	ORPHA:3339
HP:0001331	Absent septum pellucidum	79813	EHMT1	ORPHA:96147
HP:0001331	Absent septum pellucidum	3897	L1CAM	OMIM:307000
HP:0001331	Absent septum pellucidum	3897	L1CAM	ORPHA:2182
HP:0001331	Absent septum pellucidum	219844	HYLS1	OMIM:236680
HP:0001331	Absent septum pellucidum	219844	HYLS1	ORPHA:2189
HP:0001331	Absent septum pellucidum	80781	COL18A1	OMIM:267750
HP:0001331	Absent septum pellucidum	79848	CSPP1	ORPHA:397715
HP:0001331	Absent septum pellucidum	9786	KIAA0586	ORPHA:397715
HP:0001331	Absent septum pellucidum	1781	DYNC1I2	OMIM:618492
HP:0001331	Absent septum pellucidum	5626	PROP1	ORPHA:95494
HP:0001331	Absent septum pellucidum	2736	GLI2	ORPHA:95494
HP:0001331	Absent septum pellucidum	89884	LHX4	ORPHA:95494
HP:0001331	Absent septum pellucidum	3170	FOXA2	ORPHA:95494
HP:0001331	Absent septum pellucidum	5449	POU1F1	ORPHA:95494
HP:0001331	Absent septum pellucidum	5015	OTX2	ORPHA:95494
HP:0001331	Absent septum pellucidum	5015	OTX2	ORPHA:3157
HP:0001331	Absent septum pellucidum	1718	DHCR24	ORPHA:35107
HP:0001331	Absent septum pellucidum	11041	B4GAT1	OMIM:615287
HP:0001331	Absent septum pellucidum	11041	B4GAT1	ORPHA:899
HP:0001331	Absent septum pellucidum	5277	PIGA	OMIM:300868
HP:0001331	Absent septum pellucidum	55790	CSGALNACT1	OMIM:618870
HP:0001331	Absent septum pellucidum	55215	FANCI	OMIM:609053
HP:0001331	Absent septum pellucidum	22858	CILK1	OMIM:612651
HP:0001331	Absent septum pellucidum	374654	KIF7	ORPHA:2189
HP:0001331	Absent septum pellucidum	63895	PIEZO2	ORPHA:2461
HP:0001331	Absent septum pellucidum	53834	FGFRL1	OMIM:194190
HP:0001331	Absent septum pellucidum	1487	CTBP1	OMIM:194190
HP:0001331	Absent septum pellucidum	3954	LETM1	OMIM:194190
HP:0001331	Absent septum pellucidum	7468	NSD2	OMIM:194190
HP:0001331	Absent septum pellucidum	10815	CPLX1	OMIM:194190
HP:0001331	Absent septum pellucidum	128674	PROKR2	ORPHA:3157
HP:0001331	Absent septum pellucidum	6657	SOX2	ORPHA:3157
HP:0001331	Absent septum pellucidum	6658	SOX3	ORPHA:3157
HP:0001331	Absent septum pellucidum	9915	ARNT2	ORPHA:3157
HP:0001331	Absent septum pellucidum	84892	POMGNT2	ORPHA:899
HP:0001331	Absent septum pellucidum	148789	B3GALNT2	ORPHA:899
HP:0001331	Absent septum pellucidum	79147	FKRP	ORPHA:899
HP:0001331	Absent septum pellucidum	29954	POMT2	ORPHA:899
HP:0001331	Absent septum pellucidum	9215	LARGE1	ORPHA:899
HP:0001331	Absent septum pellucidum	1282	COL4A1	ORPHA:899
HP:0001331	Absent septum pellucidum	729920	CRPPA	ORPHA:899
HP:0001331	Absent septum pellucidum	10329	RXYLT1	ORPHA:899
HP:0001331	Absent septum pellucidum	1605	DAG1	ORPHA:899
HP:0001331	Absent septum pellucidum	10585	POMT1	ORPHA:899
HP:0001331	Absent septum pellucidum	84197	POMK	ORPHA:899
HP:0001331	Absent septum pellucidum	2218	FKTN	ORPHA:899
HP:0001331	Absent septum pellucidum	55624	POMGNT1	ORPHA:899
HP:0001331	Absent septum pellucidum	10735	STAG2	OMIM:301043
HP:0001331	Absent septum pellucidum	55717	WDR11	ORPHA:95496
HP:0001331	Absent septum pellucidum	6091	ROBO1	ORPHA:95496
HP:0001331	Absent septum pellucidum	50937	CDON	ORPHA:95496
HP:0001331	Absent septum pellucidum	23432	GPR161	ORPHA:95496
HP:0001331	Absent septum pellucidum	9578	CDC42BPB	OMIM:619841
HP:0001331	Absent septum pellucidum	7473	WNT3	ORPHA:3301
HP:0001331	Absent septum pellucidum	340419	RSPO2	ORPHA:3301
HP:0006970	Periventricular leukomalacia	22827	PUF60	ORPHA:508498
HP:0006970	Periventricular leukomalacia	80267	EDEM3	OMIM:619493
HP:0006970	Periventricular leukomalacia	5091	PC	OMIM:266150
HP:0006970	Periventricular leukomalacia	4718	NDUFC2	OMIM:619170
HP:0006970	Periventricular leukomalacia	7874	USP7	ORPHA:500055
HP:0006970	Periventricular leukomalacia	55621	TRMT1	OMIM:618302
HP:0006970	Periventricular leukomalacia	197258	FCSK	OMIM:618324
HP:0006970	Periventricular leukomalacia	6651	SON	ORPHA:500150
HP:0006970	Periventricular leukomalacia	6651	SON	OMIM:617140
HP:0006970	Periventricular leukomalacia	79029	AFG2B	OMIM:619616
HP:0006970	Periventricular leukomalacia	57479	PRR12	OMIM:619539
HP:0006970	Periventricular leukomalacia	51002	TPRKB	OMIM:617731
HP:0006970	Periventricular leukomalacia	57514	ARHGAP31	OMIM:100300
HP:0006970	Periventricular leukomalacia	57514	ARHGAP31	ORPHA:974
HP:0006970	Periventricular leukomalacia	4897	NRCAM	OMIM:619833
HP:0006970	Periventricular leukomalacia	1183	CLCN4	ORPHA:485350
HP:0006970	Periventricular leukomalacia	93627	TBCK	OMIM:616900
HP:0006970	Periventricular leukomalacia	3098	HK1	OMIM:618547
HP:0006970	Periventricular leukomalacia	23259	DDHD2	ORPHA:320380
HP:0006970	Periventricular leukomalacia	404672	GTF2H5	ORPHA:33364
HP:0006970	Periventricular leukomalacia	833	CARS1	ORPHA:33364
HP:0006970	Periventricular leukomalacia	2068	ERCC2	ORPHA:33364
HP:0006970	Periventricular leukomalacia	7737	RNF113A	ORPHA:33364
HP:0006970	Periventricular leukomalacia	136647	MPLKIP	ORPHA:33364
HP:0006970	Periventricular leukomalacia	6897	TARS1	ORPHA:33364
HP:0006970	Periventricular leukomalacia	2071	ERCC3	ORPHA:33364
HP:0006970	Periventricular leukomalacia	2961	GTF2E2	ORPHA:33364
HP:0006970	Periventricular leukomalacia	9361	LONP1	ORPHA:79243
HP:0006970	Periventricular leukomalacia	5160	PDHA1	ORPHA:79243
HP:0006970	Periventricular leukomalacia	8496	PPFIBP1	OMIM:620024
HP:0006970	Periventricular leukomalacia	26047	CNTNAP2	ORPHA:163681
HP:0006970	Periventricular leukomalacia	2972	BRF1	ORPHA:444072
HP:0006970	Periventricular leukomalacia	5162	PDHB	ORPHA:255138
HP:0006970	Periventricular leukomalacia	8621	CDK13	OMIM:617360
HP:0006970	Periventricular leukomalacia	22880	MORC2	ORPHA:466768
HP:0006970	Periventricular leukomalacia	375387	NRROS	OMIM:618875
HP:0006970	Periventricular leukomalacia	57505	AARS2	OMIM:615889
HP:0006970	Periventricular leukomalacia	200424	TET3	OMIM:618798
HP:0006970	Periventricular leukomalacia	55753	OGDHL	OMIM:619701
HP:0006970	Periventricular leukomalacia	196528	ARID2	OMIM:617808
HP:0006970	Periventricular leukomalacia	4976	OPA1	OMIM:210000
HP:0006970	Periventricular leukomalacia	271	AMPD2	OMIM:615809
HP:0006970	Periventricular leukomalacia	3516	RBPJ	ORPHA:974
HP:0006970	Periventricular leukomalacia	4851	NOTCH1	ORPHA:974
HP:0006970	Periventricular leukomalacia	57572	DOCK6	ORPHA:974
HP:0006970	Periventricular leukomalacia	285203	EOGT	ORPHA:974
HP:0006970	Periventricular leukomalacia	54567	DLL4	ORPHA:974
HP:0007018	Attention deficit hyperactivity disorder	128	ADH5	OMIM:619151
HP:0007018	Attention deficit hyperactivity disorder	7528	YY1	ORPHA:506358
HP:0007018	Attention deficit hyperactivity disorder	7528	YY1	OMIM:617557
HP:0007018	Attention deficit hyperactivity disorder	7337	UBE3A	ORPHA:238446
HP:0007018	Attention deficit hyperactivity disorder	25970	SH2B1	ORPHA:261222
HP:0007018	Attention deficit hyperactivity disorder	25970	SH2B1	ORPHA:261197
HP:0007018	Attention deficit hyperactivity disorder	8036	SHOC2	OMIM:607721
HP:0007018	Attention deficit hyperactivity disorder	6535	SLC6A8	OMIM:300352
HP:0007018	Attention deficit hyperactivity disorder	6513	SLC2A1	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	6513	SLC2A1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	2562	GABRB3	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2562	GABRB3	OMIM:617113
HP:0007018	Attention deficit hyperactivity disorder	2554	GABRA1	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	8912	CACNA1H	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	8629	JRK	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	23394	ADNP	ORPHA:404448
HP:0007018	Attention deficit hyperactivity disorder	23394	ADNP	OMIM:615873
HP:0007018	Attention deficit hyperactivity disorder	26960	NBEA	OMIM:619157
HP:0007018	Attention deficit hyperactivity disorder	8367	H4C5	OMIM:619950
HP:0007018	Attention deficit hyperactivity disorder	1139	CHRNA7	ORPHA:199318
HP:0007018	Attention deficit hyperactivity disorder	1000	CDH2	OMIM:619957
HP:0007018	Attention deficit hyperactivity disorder	1000	CDH2	OMIM:618929
HP:0007018	Attention deficit hyperactivity disorder	1024	CDK8	OMIM:618748
HP:0007018	Attention deficit hyperactivity disorder	161742	SPRED1	OMIM:611431
HP:0007018	Attention deficit hyperactivity disorder	161742	SPRED1	ORPHA:137605
HP:0007018	Attention deficit hyperactivity disorder	775	CACNA1C	OMIM:620029
HP:0007018	Attention deficit hyperactivity disorder	91801	ALKBH8	OMIM:618504
HP:0007018	Attention deficit hyperactivity disorder	7068	THRB	OMIM:274300
HP:0007018	Attention deficit hyperactivity disorder	7068	THRB	OMIM:188570
HP:0007018	Attention deficit hyperactivity disorder	118987	PDZD8	OMIM:620021
HP:0007018	Attention deficit hyperactivity disorder	64324	NSD1	ORPHA:821
HP:0007018	Attention deficit hyperactivity disorder	64324	NSD1	OMIM:117550
HP:0007018	Attention deficit hyperactivity disorder	29072	SETD2	ORPHA:821
HP:0007018	Attention deficit hyperactivity disorder	10297	APC2	ORPHA:821
HP:0007018	Attention deficit hyperactivity disorder	55209	SETD5	ORPHA:404440
HP:0007018	Attention deficit hyperactivity disorder	10093	ARPC4	OMIM:620141
HP:0007018	Attention deficit hyperactivity disorder	6687	SPG7	ORPHA:99013
HP:0007018	Attention deficit hyperactivity disorder	4072	EPCAM	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	4292	MLH1	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5395	PMS2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	27030	MLH3	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	22909	FAN1	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	7048	TGFBR2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	3845	KRAS	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5290	PIK3CA	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	2956	MSH6	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5378	PMS1	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	4436	MSH2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	49855	SCAPER	OMIM:618195
HP:0007018	Attention deficit hyperactivity disorder	4774	NFIA	ORPHA:401986
HP:0007018	Attention deficit hyperactivity disorder	116931	MED12L	OMIM:618872
HP:0007018	Attention deficit hyperactivity disorder	3199	HOXA2	ORPHA:83463
HP:0007018	Attention deficit hyperactivity disorder	9578	CDC42BPB	OMIM:619841
HP:0007018	Attention deficit hyperactivity disorder	613	BCR	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	1399	CRKL	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	5594	MAPK1	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	5594	MAPK1	OMIM:619087
HP:0007018	Attention deficit hyperactivity disorder	55790	CSGALNACT1	OMIM:618870
HP:0007018	Attention deficit hyperactivity disorder	64218	SEMA4A	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	657	BMPR1A	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	6224	RPS20	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	477	ATP1A2	OMIM:619605
HP:0007018	Attention deficit hyperactivity disorder	477	ATP1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51111	KMT5B	OMIM:617788
HP:0007018	Attention deficit hyperactivity disorder	80155	NAA15	OMIM:617787
HP:0007018	Attention deficit hyperactivity disorder	7532	YWHAG	OMIM:617665
HP:0007018	Attention deficit hyperactivity disorder	7532	YWHAG	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10730	YME1L1	OMIM:617302
HP:0007018	Attention deficit hyperactivity disorder	5159	PDGFRB	OMIM:615007
HP:0007018	Attention deficit hyperactivity disorder	2314	FLII	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	23096	IQSEC2	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10743	RAI1	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10743	RAI1	ORPHA:1713
HP:0007018	Attention deficit hyperactivity disorder	10522	DEAF1	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10847	SRCAP	ORPHA:2044
HP:0007018	Attention deficit hyperactivity disorder	5689	PSMB1	OMIM:620038
HP:0007018	Attention deficit hyperactivity disorder	27102	EIF2AK1	OMIM:618878
HP:0007018	Attention deficit hyperactivity disorder	1717	DHCR7	ORPHA:818
HP:0007018	Attention deficit hyperactivity disorder	3781	KCNN2	OMIM:619725
HP:0007018	Attention deficit hyperactivity disorder	7086	TKT	ORPHA:488618
HP:0007018	Attention deficit hyperactivity disorder	7086	TKT	OMIM:617044
HP:0007018	Attention deficit hyperactivity disorder	55636	CHD7	ORPHA:138
HP:0007018	Attention deficit hyperactivity disorder	9723	SEMA3E	ORPHA:138
HP:0007018	Attention deficit hyperactivity disorder	7252	TSHB	ORPHA:90674
HP:0007018	Attention deficit hyperactivity disorder	6595	SMARCA2	OMIM:619293
HP:0007018	Attention deficit hyperactivity disorder	6595	SMARCA2	OMIM:601358
HP:0007018	Attention deficit hyperactivity disorder	6660	SOX5	ORPHA:313892
HP:0007018	Attention deficit hyperactivity disorder	57589	RIC1	OMIM:618761
HP:0007018	Attention deficit hyperactivity disorder	535	ATP6V0A1	OMIM:619971
HP:0007018	Attention deficit hyperactivity disorder	3190	HNRNPK	OMIM:616580
HP:0007018	Attention deficit hyperactivity disorder	284058	KANSL1	ORPHA:363958
HP:0007018	Attention deficit hyperactivity disorder	284058	KANSL1	ORPHA:363965
HP:0007018	Attention deficit hyperactivity disorder	347733	TUBB2B	ORPHA:300573
HP:0007018	Attention deficit hyperactivity disorder	347733	TUBB2B	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	340024	SLC6A19	OMIM:234500
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	ORPHA:93932
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	OMIM:305450
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	51319	RSRC1	OMIM:618402
HP:0007018	Attention deficit hyperactivity disorder	412	STS	ORPHA:281090
HP:0007018	Attention deficit hyperactivity disorder	412	STS	ORPHA:461
HP:0007018	Attention deficit hyperactivity disorder	1009	CDH11	OMIM:619736
HP:0007018	Attention deficit hyperactivity disorder	3973	LHCGR	ORPHA:3000
HP:0007018	Attention deficit hyperactivity disorder	2626	GATA4	ORPHA:251071
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	OMIM:188400
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	ORPHA:1727
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	215	ABCD1	OMIM:300100
HP:0007018	Attention deficit hyperactivity disorder	4763	NF1	ORPHA:363700
HP:0007018	Attention deficit hyperactivity disorder	26053	AUTS2	ORPHA:352490
HP:0007018	Attention deficit hyperactivity disorder	833	CARS1	OMIM:618891
HP:0007018	Attention deficit hyperactivity disorder	23036	ZNF292	OMIM:619188
HP:0007018	Attention deficit hyperactivity disorder	57178	ZMIZ1	OMIM:618659
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	OMIM:618709
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2260	FGFR1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2260	FGFR1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	26057	ANKRD17	OMIM:619504
HP:0007018	Attention deficit hyperactivity disorder	23007	PLCH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	OMIM:301022
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	ORPHA:98818
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	OMIM:245570
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	3737	KCNA2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1759	DNM1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8120	AP3B2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	523	ATP6V1A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10991	SLC38A3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51343	FZR1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	22906	TRAK1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1917	EEF1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2561	GABRB2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8831	SYNGAP1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8831	SYNGAP1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	79876	UBA5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6328	SCN3A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6328	SCN3A	OMIM:617935
HP:0007018	Attention deficit hyperactivity disorder	2558	GABRA5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	781	CACNA2D1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2906	GRIN2D	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	116150	NUS1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10659	CELF2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	774	CACNA1B	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1213	CLTC	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1213	CLTC	OMIM:617854
HP:0007018	Attention deficit hyperactivity disorder	51741	WWOX	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23334	SZT2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51412	ACTL6B	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	348980	HCN1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	348980	HCN1	OMIM:615871
HP:0007018	Attention deficit hyperactivity disorder	6506	SLC1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8867	SYNJ1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2258	FGF13	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	3745	KCNB1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	284111	SLC13A5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	25977	NECAP1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	16	AARS1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6334	SCN8A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6334	SCN8A	OMIM:614306
HP:0007018	Attention deficit hyperactivity disorder	22866	CNKSR2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	22866	CNKSR2	OMIM:301008
HP:0007018	Attention deficit hyperactivity disorder	9568	GABBR2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2555	GABRA2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	55152	DALRD3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	773	CACNA1A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	26999	CYFIP2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	4915	NTRK2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	25973	PARS2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23097	CDK19	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	64801	ARV1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	79947	DHDDS	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2257	FGF12	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	5530	PPP3CA	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	478	ATP1A3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	25942	SIN3A	OMIM:613406
HP:0007018	Attention deficit hyperactivity disorder	10528	NOP56	ORPHA:276198
HP:0007018	Attention deficit hyperactivity disorder	3981	LIG4	ORPHA:235
HP:0007018	Attention deficit hyperactivity disorder	54888	NSUN2	ORPHA:235
HP:0007018	Attention deficit hyperactivity disorder	4953	ODC1	OMIM:619075
HP:0007018	Attention deficit hyperactivity disorder	4953	ODC1	ORPHA:544488
HP:0007018	Attention deficit hyperactivity disorder	2746	GLUD1	ORPHA:35878
HP:0007018	Attention deficit hyperactivity disorder	30011	SH3KBP1	OMIM:300310
HP:0007018	Attention deficit hyperactivity disorder	84138	SLC7A6OS	OMIM:619191
HP:0007018	Attention deficit hyperactivity disorder	7025	NR2F1	ORPHA:401777
HP:0007018	Attention deficit hyperactivity disorder	8493	PPM1D	OMIM:617450
HP:0007018	Attention deficit hyperactivity disorder	26038	CHD5	OMIM:619873
HP:0007018	Attention deficit hyperactivity disorder	29081	METTL5	OMIM:618665
HP:0007018	Attention deficit hyperactivity disorder	55773	TBC1D23	OMIM:617695
HP:0007018	Attention deficit hyperactivity disorder	1593	CYP27A1	ORPHA:909
HP:0007018	Attention deficit hyperactivity disorder	2332	FMR1	ORPHA:908
HP:0007018	Attention deficit hyperactivity disorder	2332	FMR1	ORPHA:449291
HP:0007018	Attention deficit hyperactivity disorder	9354	UBE4A	OMIM:619639
HP:0007018	Attention deficit hyperactivity disorder	6804	STX1A	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	7461	CLIP2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	84277	DNAJC30	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	8468	FKBP6	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	5982	RFC2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2969	GTF2I	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	3984	LIMK1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	9569	GTF2IRD1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	155382	VPS37D	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	155368	METTL27	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	114049	BUD23	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	7458	EIF4H	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	84163	GTF2IRD2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	9275	BCL7B	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	26608	TBL2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	653361	NCF1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	135886	TMEM270	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	51085	MLXIPL	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	51085	MLXIPL	OMIM:194050
HP:0007018	Attention deficit hyperactivity disorder	9031	BAZ1B	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2006	ELN	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2006	ELN	OMIM:194050
HP:0007018	Attention deficit hyperactivity disorder	54499	TMCO1	OMIM:213980
HP:0007018	Attention deficit hyperactivity disorder	22859	ADGRL1	OMIM:620065
HP:0007018	Attention deficit hyperactivity disorder	1859	DYRK1A	ORPHA:464311
HP:0007018	Attention deficit hyperactivity disorder	55719	SLF2	OMIM:620184
HP:0007018	Attention deficit hyperactivity disorder	23137	SMC5	OMIM:620185
HP:0007018	Attention deficit hyperactivity disorder	8517	IKBKG	ORPHA:464
HP:0007018	Attention deficit hyperactivity disorder	10236	HNRNPR	OMIM:620073
HP:0007018	Attention deficit hyperactivity disorder	26137	ZBTB20	OMIM:259050
HP:0007018	Attention deficit hyperactivity disorder	2312	FLG	ORPHA:461
HP:0007018	Attention deficit hyperactivity disorder	8314	BAP1	OMIM:619762
HP:0007018	Attention deficit hyperactivity disorder	7750	ZMYM2	OMIM:619522
HP:0007018	Attention deficit hyperactivity disorder	27086	FOXP1	ORPHA:391372
HP:0007018	Attention deficit hyperactivity disorder	27086	FOXP1	OMIM:613670
HP:0007018	Attention deficit hyperactivity disorder	3481	IGF2	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	1028	CDKN1C	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	5324	PLAG1	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	8091	HMGA2	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	23261	CAMTA1	OMIM:614756
HP:0007018	Attention deficit hyperactivity disorder	200424	TET3	OMIM:618798
HP:0007018	Attention deficit hyperactivity disorder	7248	TSC1	OMIM:191100
HP:0007018	Attention deficit hyperactivity disorder	7248	TSC1	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	5422	POLA1	ORPHA:163976
HP:0007018	Attention deficit hyperactivity disorder	5422	POLA1	OMIM:301030
HP:0007018	Attention deficit hyperactivity disorder	23314	SATB2	ORPHA:576283
HP:0007018	Attention deficit hyperactivity disorder	23314	SATB2	ORPHA:251019
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	ORPHA:284169
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	OMIM:616708
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	ORPHA:466950
HP:0007018	Attention deficit hyperactivity disorder	55120	FANCL	OMIM:614083
HP:0007018	Attention deficit hyperactivity disorder	9922	IQSEC1	OMIM:618687
HP:0007018	Attention deficit hyperactivity disorder	26047	CNTNAP2	OMIM:610042
HP:0007018	Attention deficit hyperactivity disorder	57479	PRR12	OMIM:619539
HP:0007018	Attention deficit hyperactivity disorder	9928	KIF14	OMIM:617914
HP:0007018	Attention deficit hyperactivity disorder	3458	IFNG	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	3458	IFNG	OMIM:613254
HP:0007018	Attention deficit hyperactivity disorder	7249	TSC2	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	7249	TSC2	OMIM:613254
HP:0007018	Attention deficit hyperactivity disorder	1107	CHD3	OMIM:618205
HP:0007018	Attention deficit hyperactivity disorder	27286	SRPX2	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	3339	HSPG2	ORPHA:800
HP:0007018	Attention deficit hyperactivity disorder	1173	AP2M1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	6323	SCN1A	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	340533	NEXMIF	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	1106	CHD2	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	6529	SLC6A1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	6529	SLC6A1	OMIM:616421
HP:0007018	Attention deficit hyperactivity disorder	2776	GNAQ	ORPHA:3205
HP:0007018	Attention deficit hyperactivity disorder	55023	PHIP	ORPHA:589905
HP:0007018	Attention deficit hyperactivity disorder	55023	PHIP	OMIM:617991
HP:0007018	Attention deficit hyperactivity disorder	29123	ANKRD11	OMIM:148050
HP:0007018	Attention deficit hyperactivity disorder	80025	PANK2	ORPHA:216866
HP:0007018	Attention deficit hyperactivity disorder	5587	PRKD1	OMIM:617364
HP:0007018	Attention deficit hyperactivity disorder	2245	FGD1	ORPHA:915
HP:0007018	Attention deficit hyperactivity disorder	2245	FGD1	OMIM:305400
HP:0007018	Attention deficit hyperactivity disorder	1642	DDB1	OMIM:619426
HP:0007018	Attention deficit hyperactivity disorder	63895	PIEZO2	ORPHA:2461
HP:0007018	Attention deficit hyperactivity disorder	196528	ARID2	OMIM:617808
HP:0007018	Attention deficit hyperactivity disorder	1801	DPH1	ORPHA:459061
HP:0007018	Attention deficit hyperactivity disorder	3720	JARID2	OMIM:620098
HP:0007018	Attention deficit hyperactivity disorder	3479	IGF1	ORPHA:73272
HP:0007018	Attention deficit hyperactivity disorder	6492	SIM1	ORPHA:369873
HP:0007018	Attention deficit hyperactivity disorder	6909	TBX2	OMIM:618223
HP:0007018	Attention deficit hyperactivity disorder	23013	SPEN	OMIM:619312
HP:0007018	Attention deficit hyperactivity disorder	30000	TNPO2	OMIM:619556
HP:0007018	Attention deficit hyperactivity disorder	123606	NIPA1	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	7283	TUBG1	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	81614	NIPA2	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	54517	PUS7	OMIM:618342
HP:0007018	Attention deficit hyperactivity disorder	57102	C12orf4	OMIM:618221
HP:0007018	Attention deficit hyperactivity disorder	9759	HDAC4	ORPHA:1001
HP:0007018	Attention deficit hyperactivity disorder	3067	HDC	OMIM:137580
HP:0007018	Attention deficit hyperactivity disorder	114798	SLITRK1	OMIM:137580
HP:0007018	Attention deficit hyperactivity disorder	26115	TANC2	OMIM:618906
HP:0007018	Attention deficit hyperactivity disorder	7681	MKRN3	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	3653	IPW	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	54551	MAGEL2	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	791114	PWRN1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	100033413	SNORD116-1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	8924	HERC2	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	145624	PWAR1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	23742	NPAP1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	338433	SNORD115-1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	5575	PRKAR1B	OMIM:619680
HP:0007018	Attention deficit hyperactivity disorder	5621	PRNP	ORPHA:280397
HP:0007018	Attention deficit hyperactivity disorder	2581	GALC	ORPHA:206443
HP:0007018	Attention deficit hyperactivity disorder	57526	PCDH19	OMIM:300088
HP:0007018	Attention deficit hyperactivity disorder	5515	PPP2CA	OMIM:618354
HP:0007018	Attention deficit hyperactivity disorder	56521	DNAJC12	OMIM:617384
HP:0007018	Attention deficit hyperactivity disorder	55262	TRAPPC14	OMIM:618351
HP:0007018	Attention deficit hyperactivity disorder	23030	KDM4B	OMIM:619320
HP:0007018	Attention deficit hyperactivity disorder	473	RERE	OMIM:616975
HP:0007018	Attention deficit hyperactivity disorder	473	RERE	ORPHA:494344
HP:0007018	Attention deficit hyperactivity disorder	11151	CORO1A	OMIM:615401
HP:0007018	Attention deficit hyperactivity disorder	2782	GNB1	OMIM:616973
HP:0007018	Attention deficit hyperactivity disorder	23043	TNIK	OMIM:617028
HP:0007018	Attention deficit hyperactivity disorder	55784	MCTP2	ORPHA:1596
HP:0007018	Attention deficit hyperactivity disorder	5053	PAH	OMIM:261600
HP:0007018	Attention deficit hyperactivity disorder	5053	PAH	ORPHA:79254
HP:0007018	Attention deficit hyperactivity disorder	1815	DRD4	OMIM:143465
HP:0007018	Attention deficit hyperactivity disorder	1816	DRD5	OMIM:143465
HP:0007018	Attention deficit hyperactivity disorder	51114	ZDHHC9	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	65109	UPF3B	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	4952	OCRL	ORPHA:534
HP:0007018	Attention deficit hyperactivity disorder	4131	MAP1B	OMIM:618918
HP:0007018	Attention deficit hyperactivity disorder	84679	SLC9A7	OMIM:301024
HP:0007018	Attention deficit hyperactivity disorder	2592	GALT	ORPHA:79239
HP:0007018	Attention deficit hyperactivity disorder	1741	DLG3	OMIM:300850
HP:0007018	Attention deficit hyperactivity disorder	7846	TUBA1A	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	10381	TUBB3	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	6609	SMPD1	ORPHA:77293
HP:0007018	Attention deficit hyperactivity disorder	57551	TAOK1	OMIM:619575
HP:0007018	Attention deficit hyperactivity disorder	63035	BCORL1	OMIM:301029
HP:0007018	Attention deficit hyperactivity disorder	9969	MED13	OMIM:618009
HP:0007018	Attention deficit hyperactivity disorder	1312	COMT	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	221037	JMJD1C	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	2812	GP1BB	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	6239	RREB1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	7290	HIRA	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	9632	SEC24C	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	7353	UFD1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	421	ARVCF	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	5582	PRKCG	OMIM:605361
HP:0007018	Attention deficit hyperactivity disorder	51185	CRBN	OMIM:607417
HP:0007018	Attention deficit hyperactivity disorder	2898	GRIK2	OMIM:619580
HP:0007018	Attention deficit hyperactivity disorder	1137	CHRNA4	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1135	CHRNA2	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	57010	CABP4	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1141	CHRNB2	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	57582	KCNT1	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1392	CRH	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	9681	DEPDC5	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	7703	PCGF2	OMIM:618371
HP:0007018	Attention deficit hyperactivity disorder	1781	DYNC1I2	OMIM:618492
HP:0007018	Attention deficit hyperactivity disorder	6907	TBL1X	OMIM:301033
HP:0007018	Attention deficit hyperactivity disorder	10524	KAT5	OMIM:619103
HP:0007018	Attention deficit hyperactivity disorder	79576	NKAP	OMIM:301039
HP:0007018	Attention deficit hyperactivity disorder	26040	SETBP1	OMIM:616078
HP:0007018	Attention deficit hyperactivity disorder	3188	HNRNPH2	OMIM:300986
HP:0007018	Attention deficit hyperactivity disorder	23152	CIC	OMIM:617600
HP:0007018	Attention deficit hyperactivity disorder	121278	TPH2	OMIM:613003
HP:0007018	Attention deficit hyperactivity disorder	51729	WBP11	OMIM:619227
HP:0007018	Attention deficit hyperactivity disorder	6638	SNRPN	ORPHA:177907
HP:0007018	Attention deficit hyperactivity disorder	55186	SLC25A36	OMIM:620211
HP:0007018	Attention deficit hyperactivity disorder	2313	FLI1	ORPHA:2308
HP:0007018	Attention deficit hyperactivity disorder	7074	TIAM1	OMIM:619908
HP:0007018	Attention deficit hyperactivity disorder	23476	BRD4	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	9126	SMC3	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	8243	SMC1A	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	8243	SMC1A	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	25836	NIPBL	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	55869	HDAC8	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	5885	RAD21	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	9757	KMT2B	ORPHA:589618
HP:0007018	Attention deficit hyperactivity disorder	9757	KMT2B	OMIM:619934
HP:0007018	Attention deficit hyperactivity disorder	7874	USP7	ORPHA:500055
HP:0007018	Attention deficit hyperactivity disorder	139411	PTCHD1	OMIM:300830
HP:0007018	Attention deficit hyperactivity disorder	6711	SPTBN1	OMIM:619475
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	OMIM:618825
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	OMIM:617061
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	ORPHA:476126
HP:0007018	Attention deficit hyperactivity disorder	55526	DHTKD1	OMIM:204750
HP:0007018	Attention deficit hyperactivity disorder	4659	PPP1R12A	OMIM:618820
HP:0007018	Attention deficit hyperactivity disorder	3839	KPNA3	OMIM:620106
HP:0007018	Attention deficit hyperactivity disorder	4983	OPHN1	ORPHA:137831
HP:0007018	Attention deficit hyperactivity disorder	63932	STEEP1	OMIM:301013
HP:0007018	Attention deficit hyperactivity disorder	1457	CSNK2A1	OMIM:617062
HP:0007018	Attention deficit hyperactivity disorder	10681	GNB5	OMIM:617182
HP:0007018	Attention deficit hyperactivity disorder	6872	TAF1	OMIM:300966
HP:0007018	Attention deficit hyperactivity disorder	8567	MADD	OMIM:619005
HP:0007018	Attention deficit hyperactivity disorder	22871	NLGN1	OMIM:618830
HP:0007018	Attention deficit hyperactivity disorder	6472	SHMT2	OMIM:619121
HP:0007018	Attention deficit hyperactivity disorder	23112	TNRC6B	OMIM:619243
HP:0007018	Attention deficit hyperactivity disorder	81562	LMAN2L	OMIM:617863
HP:0007018	Attention deficit hyperactivity disorder	2890	GRIA1	OMIM:619927
HP:0007018	Attention deficit hyperactivity disorder	51473	DCDC2	ORPHA:84081
HP:0007018	Attention deficit hyperactivity disorder	91147	TMEM67	ORPHA:84081
HP:0007018	Attention deficit hyperactivity disorder	259266	ASPM	OMIM:608716
HP:0007018	Attention deficit hyperactivity disorder	2177	FANCD2	OMIM:227646
HP:0007018	Attention deficit hyperactivity disorder	3739	KCNA4	OMIM:618284
HP:0007018	Attention deficit hyperactivity disorder	10020	GNE	OMIM:269921
HP:0007018	Attention deficit hyperactivity disorder	10020	GNE	ORPHA:3166
HP:0007018	Attention deficit hyperactivity disorder	4781	NFIB	OMIM:618286
HP:0007018	Attention deficit hyperactivity disorder	51780	KDM3B	OMIM:618846
HP:0007018	Attention deficit hyperactivity disorder	51317	PHF21A	OMIM:618725
HP:0007018	Attention deficit hyperactivity disorder	5116	PCNT	ORPHA:2637
HP:0007018	Attention deficit hyperactivity disorder	203190	LGI3	OMIM:620007
HP:0007018	Attention deficit hyperactivity disorder	4683	NBN	ORPHA:647
HP:0007018	Attention deficit hyperactivity disorder	4693	NDP	ORPHA:649
HP:0007018	Attention deficit hyperactivity disorder	10079	ATP9A	OMIM:620242
HP:0007018	Attention deficit hyperactivity disorder	11011	TLK2	OMIM:618050
HP:0007018	Attention deficit hyperactivity disorder	1678	TIMM8A	ORPHA:52368
HP:0007018	Attention deficit hyperactivity disorder	129285	PPP1R21	OMIM:619383
HP:0007018	Attention deficit hyperactivity disorder	55553	SOX6	OMIM:618971
HP:0007018	Attention deficit hyperactivity disorder	27161	AGO2	OMIM:619149
HP:0007018	Attention deficit hyperactivity disorder	3832	KIF11	OMIM:152950
HP:0007018	Attention deficit hyperactivity disorder	2261	FGFR3	OMIM:602849
HP:0007018	Attention deficit hyperactivity disorder	55367	PIDD1	OMIM:619827
HP:0007018	Attention deficit hyperactivity disorder	84148	KAT8	OMIM:618974
HP:0007018	Attention deficit hyperactivity disorder	64682	ANAPC1	ORPHA:221008
HP:0006977	Deficit in grammar	2592	GALT	ORPHA:79239
HP:0006977	Deficit in grammar	93986	FOXP2	ORPHA:209908
HP:0006977	Deficit in grammar	93986	FOXP2	OMIM:602081
HP:0006977	Deficit in grammar	4137	MAPT	ORPHA:240112
HP:0006977	Deficit in grammar	4137	MAPT	ORPHA:100070
HP:0006977	Deficit in grammar	25978	CHMP2B	ORPHA:100070
HP:0006977	Deficit in grammar	5663	PSEN1	ORPHA:100070
HP:0006977	Deficit in grammar	2896	GRN	ORPHA:100070
HP:0006977	Deficit in grammar	54664	TMEM106B	ORPHA:100070
HP:0006977	Deficit in grammar	54209	TREM2	ORPHA:100070
HP:0006977	Deficit in grammar	7415	VCP	ORPHA:100070
HP:0006978	Dysmyelinating leukodystrophy	55157	DARS2	ORPHA:137898
HP:0006978	Dysmyelinating leukodystrophy	79152	FA2H	OMIM:612319
HP:0006978	Dysmyelinating leukodystrophy	6663	SOX10	OMIM:609136
HP:0006979	Sleep-wake cycle disturbance	8864	PER2	OMIM:604348
HP:0006979	Sleep-wake cycle disturbance	348	APOE	OMIM:606889
HP:0006979	Sleep-wake cycle disturbance	5664	PSEN2	OMIM:606889
HP:0006979	Sleep-wake cycle disturbance	1717	DHCR7	OMIM:270400
HP:0006979	Sleep-wake cycle disturbance	6792	CDKL5	ORPHA:505652
HP:0006979	Sleep-wake cycle disturbance	56992	KIF15	ORPHA:261323
HP:0006979	Sleep-wake cycle disturbance	6872	TAF1	OMIM:300966
HP:0006979	Sleep-wake cycle disturbance	2892	GRIA3	ORPHA:364028
HP:0006979	Sleep-wake cycle disturbance	2260	FGFR1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	2260	FGFR1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	28514	DLL1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	28514	DLL1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	28514	DLL1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	28514	DLL1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	10735	STAG2	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	10735	STAG2	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	2253	FGF8	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	2253	FGF8	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	2253	FGF8	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	2253	FGF8	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	8243	SMC1A	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	6496	SIX3	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	6496	SIX3	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	6496	SIX3	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	6496	SIX3	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	7050	TGIF1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	7050	TGIF1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	7050	TGIF1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	7050	TGIF1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	4838	NODAL	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	4838	NODAL	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	4838	NODAL	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	4838	NODAL	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	6469	SHH	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	6469	SHH	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	6469	SHH	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	6469	SHH	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	7546	ZIC2	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	7546	ZIC2	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	7546	ZIC2	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	7546	ZIC2	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	6491	STIL	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	6491	STIL	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	6491	STIL	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	6491	STIL	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	2619	GAS1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	2619	GAS1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	2619	GAS1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	2619	GAS1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	84976	DISP1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	84976	DISP1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	84976	DISP1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	84976	DISP1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	2736	GLI2	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	2736	GLI2	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	2736	GLI2	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	2736	GLI2	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	8928	FOXH1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	8928	FOXH1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	8928	FOXH1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	8928	FOXH1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	5727	PTCH1	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	5727	PTCH1	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	5727	PTCH1	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	5727	PTCH1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	50937	CDON	ORPHA:220386
HP:0006979	Sleep-wake cycle disturbance	50937	CDON	ORPHA:93926
HP:0006979	Sleep-wake cycle disturbance	50937	CDON	ORPHA:93924
HP:0006979	Sleep-wake cycle disturbance	50937	CDON	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	815	CAMK2A	OMIM:617798
HP:0006979	Sleep-wake cycle disturbance	1453	CSNK1D	OMIM:615224
HP:0006979	Sleep-wake cycle disturbance	9568	GABBR2	OMIM:617903
HP:0006979	Sleep-wake cycle disturbance	9894	TELO2	ORPHA:488642
HP:0006979	Sleep-wake cycle disturbance	23007	PLCH1	ORPHA:93925
HP:0006979	Sleep-wake cycle disturbance	6638	SNRPN	ORPHA:411515
HP:0006979	Sleep-wake cycle disturbance	6638	SNRPN	OMIM:105830
HP:0006979	Sleep-wake cycle disturbance	7337	UBE3A	ORPHA:411515
HP:0006979	Sleep-wake cycle disturbance	7337	UBE3A	OMIM:105830
HP:0006979	Sleep-wake cycle disturbance	57194	ATP10A	ORPHA:411515
HP:0006979	Sleep-wake cycle disturbance	26224	FBXL3	OMIM:606220
HP:0006979	Sleep-wake cycle disturbance	2799	GNS	OMIM:252940
HP:0006979	Sleep-wake cycle disturbance	10743	RAI1	OMIM:182290
HP:0006979	Sleep-wake cycle disturbance	8914	TIMELESS	OMIM:620015
HP:0006979	Sleep-wake cycle disturbance	8863	PER3	OMIM:616882
HP:0006979	Sleep-wake cycle disturbance	57680	CHD8	OMIM:615032
HP:0006980	Progressive leukoencephalopathy	57505	AARS2	OMIM:615889
HP:0006980	Progressive leukoencephalopathy	9373	PLAA	OMIM:617527
HP:0006980	Progressive leukoencephalopathy	84334	COA8	ORPHA:436271
HP:0006980	Progressive leukoencephalopathy	3798	KIF5A	OMIM:617235
HP:0006980	Progressive leukoencephalopathy	6389	SDHA	OMIM:252011
HP:0001338	Partial agenesis of the corpus callosum	1718	DHCR24	OMIM:602398
HP:0001338	Partial agenesis of the corpus callosum	2615	LRRC32	OMIM:619074
HP:0001338	Partial agenesis of the corpus callosum	10128	LRPPRC	OMIM:220111
HP:0001338	Partial agenesis of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0001338	Partial agenesis of the corpus callosum	57498	KIDINS220	OMIM:617296
HP:0001338	Partial agenesis of the corpus callosum	10785	WDR4	OMIM:618346
HP:0001338	Partial agenesis of the corpus callosum	1182	CLCN3	OMIM:619512
HP:0001338	Partial agenesis of the corpus callosum	1182	CLCN3	OMIM:619517
HP:0001338	Partial agenesis of the corpus callosum	28962	OSTM1	ORPHA:85179
HP:0001338	Partial agenesis of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0001338	Partial agenesis of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0001338	Partial agenesis of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0001338	Partial agenesis of the corpus callosum	6938	TCF12	OMIM:615314
HP:0001338	Partial agenesis of the corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0001338	Partial agenesis of the corpus callosum	5727	PTCH1	OMIM:610828
HP:0001338	Partial agenesis of the corpus callosum	2736	GLI2	OMIM:610829
HP:0001338	Partial agenesis of the corpus callosum	11198	SUPT16H	OMIM:619480
HP:0001338	Partial agenesis of the corpus callosum	4036	LRP2	OMIM:222448
HP:0001338	Partial agenesis of the corpus callosum	136647	MPLKIP	OMIM:234050
HP:0001338	Partial agenesis of the corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	10733	PLK4	OMIM:616171
HP:0001338	Partial agenesis of the corpus callosum	8050	PDHX	OMIM:245349
HP:0001338	Partial agenesis of the corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0001338	Partial agenesis of the corpus callosum	1062	CENPE	OMIM:616051
HP:0001338	Partial agenesis of the corpus callosum	10300	KATNB1	OMIM:616212
HP:0001338	Partial agenesis of the corpus callosum	55755	CDK5RAP2	OMIM:604804
HP:0001338	Partial agenesis of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0001338	Partial agenesis of the corpus callosum	4190	MDH1	OMIM:618959
HP:0001338	Partial agenesis of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0001338	Partial agenesis of the corpus callosum	9968	MED12	OMIM:305450
HP:0001338	Partial agenesis of the corpus callosum	60386	SLC25A19	OMIM:607196
HP:0001338	Partial agenesis of the corpus callosum	55691	FRMD4A	OMIM:616819
HP:0001338	Partial agenesis of the corpus callosum	139285	AMER1	OMIM:300373
HP:0001338	Partial agenesis of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0001338	Partial agenesis of the corpus callosum	7143	TNR	OMIM:619653
HP:0001338	Partial agenesis of the corpus callosum	23007	PLCH1	OMIM:619895
HP:0001338	Partial agenesis of the corpus callosum	4123	MAN2C1	OMIM:619775
HP:0001338	Partial agenesis of the corpus callosum	57492	ARID1B	OMIM:135900
HP:0001338	Partial agenesis of the corpus callosum	64324	NSD1	OMIM:117550
HP:0001338	Partial agenesis of the corpus callosum	203068	TUBB	OMIM:615771
HP:0001338	Partial agenesis of the corpus callosum	729920	CRPPA	OMIM:614643
HP:0001338	Partial agenesis of the corpus callosum	10381	TUBB3	ORPHA:300570
HP:0001338	Partial agenesis of the corpus callosum	54916	TMEM260	OMIM:617478
HP:0001338	Partial agenesis of the corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	833	CARS1	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2068	ERCC2	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	7737	RNF113A	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	6897	TARS1	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2071	ERCC3	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0001338	Partial agenesis of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0001338	Partial agenesis of the corpus callosum	1717	DHCR7	OMIM:270400
HP:0001338	Partial agenesis of the corpus callosum	3897	L1CAM	OMIM:304100
HP:0001338	Partial agenesis of the corpus callosum	64432	MRPS25	OMIM:619025
HP:0001338	Partial agenesis of the corpus callosum	10524	KAT5	OMIM:619103
HP:0001338	Partial agenesis of the corpus callosum	51362	CDC40	OMIM:619302
HP:0001338	Partial agenesis of the corpus callosum	80199	FUZ	ORPHA:1136
HP:0002510	Spastic tetraplegia	23141	ANKLE2	OMIM:616681
HP:0002510	Spastic tetraplegia	8367	H4C5	OMIM:619950
HP:0002510	Spastic tetraplegia	776	CACNA1D	OMIM:615474
HP:0002510	Spastic tetraplegia	2720	GLB1	OMIM:230600
HP:0002510	Spastic tetraplegia	84942	WDR73	OMIM:251300
HP:0002510	Spastic tetraplegia	6328	SCN3A	OMIM:617938
HP:0002510	Spastic tetraplegia	8496	PPFIBP1	OMIM:620024
HP:0002510	Spastic tetraplegia	56945	MRPS22	OMIM:611719
HP:0002510	Spastic tetraplegia	1193	CLIC2	OMIM:300886
HP:0002510	Spastic tetraplegia	1193	CLIC2	ORPHA:324410
HP:0002510	Spastic tetraplegia	6567	SLC16A2	OMIM:300523
HP:0002510	Spastic tetraplegia	6567	SLC16A2	ORPHA:59
HP:0002510	Spastic tetraplegia	1436	CSF1R	OMIM:618476
HP:0002510	Spastic tetraplegia	170302	ARX	OMIM:300004
HP:0002510	Spastic tetraplegia	8867	SYNJ1	OMIM:617389
HP:0002510	Spastic tetraplegia	644096	SDHAF1	OMIM:619166
HP:0002510	Spastic tetraplegia	80347	COASY	OMIM:615643
HP:0002510	Spastic tetraplegia	1841	DTYMK	OMIM:619847
HP:0002510	Spastic tetraplegia	29078	NDUFAF4	OMIM:618237
HP:0002510	Spastic tetraplegia	79133	NDUFAF5	OMIM:618238
HP:0002510	Spastic tetraplegia	23431	AP4E1	OMIM:613744
HP:0002510	Spastic tetraplegia	54820	NDE1	OMIM:605013
HP:0002510	Spastic tetraplegia	7846	TUBA1A	OMIM:611603
HP:0002510	Spastic tetraplegia	9179	AP4M1	OMIM:612936
HP:0002510	Spastic tetraplegia	79709	COLGALT1	OMIM:618360
HP:0002510	Spastic tetraplegia	4204	MECP2	OMIM:300055
HP:0002510	Spastic tetraplegia	535	ATP6V0A1	OMIM:619971
HP:0002510	Spastic tetraplegia	22796	COG2	OMIM:617395
HP:0002510	Spastic tetraplegia	22796	COG2	ORPHA:435934
HP:0002510	Spastic tetraplegia	100131801	PET100	OMIM:619055
HP:0002510	Spastic tetraplegia	7283	TUBG1	OMIM:615412
HP:0002510	Spastic tetraplegia	79029	AFG2B	OMIM:619616
HP:0002510	Spastic tetraplegia	10352	WARS2	OMIM:617710
HP:0002510	Spastic tetraplegia	10352	WARS2	ORPHA:572798
HP:0002510	Spastic tetraplegia	6709	SPTAN1	OMIM:613477
HP:0002510	Spastic tetraplegia	1778	DYNC1H1	OMIM:614563
HP:0002510	Spastic tetraplegia	10381	TUBB3	ORPHA:300570
HP:0002510	Spastic tetraplegia	3796	KIF2A	OMIM:615411
HP:0002510	Spastic tetraplegia	123263	MTFMT	OMIM:618248
HP:0002510	Spastic tetraplegia	170825	GSX2	OMIM:618646
HP:0002510	Spastic tetraplegia	8560	DEGS1	OMIM:618404
HP:0002510	Spastic tetraplegia	259232	NALCN	OMIM:615419
HP:0002510	Spastic tetraplegia	259232	NALCN	ORPHA:371364
HP:0002510	Spastic tetraplegia	549	AUH	OMIM:250950
HP:0002510	Spastic tetraplegia	23258	DENND5A	OMIM:617281
HP:0002510	Spastic tetraplegia	5903	RANBP2	ORPHA:88619
HP:0002510	Spastic tetraplegia	5903	RANBP2	OMIM:608033
HP:0002510	Spastic tetraplegia	22872	SEC31A	OMIM:618651
HP:0002510	Spastic tetraplegia	132158	GLYCTK	OMIM:220120
HP:0002510	Spastic tetraplegia	128637	TBC1D20	OMIM:615663
HP:0002510	Spastic tetraplegia	4338	MOCS2	OMIM:252160
HP:0002510	Spastic tetraplegia	128989	TANGO2	OMIM:616878
HP:0002510	Spastic tetraplegia	6785	ELOVL4	OMIM:614457
HP:0002510	Spastic tetraplegia	6905	TBCE	OMIM:617207
HP:0002510	Spastic tetraplegia	26227	PHGDH	ORPHA:79351
HP:0002510	Spastic tetraplegia	26227	PHGDH	OMIM:601815
HP:0002510	Spastic tetraplegia	4990	SIX6	OMIM:206900
HP:0002510	Spastic tetraplegia	6657	SOX2	OMIM:206900
HP:0002510	Spastic tetraplegia	59336	PRDM13	OMIM:619909
HP:0002510	Spastic tetraplegia	1267	CNP	OMIM:619071
HP:0002510	Spastic tetraplegia	11019	LIAS	OMIM:614462
HP:0002510	Spastic tetraplegia	56978	PRDM8	OMIM:616640
HP:0002510	Spastic tetraplegia	6812	STXBP1	OMIM:612164
HP:0002510	Spastic tetraplegia	3028	HSD17B10	OMIM:300438
HP:0002510	Spastic tetraplegia	6711	SPTBN1	OMIM:619475
HP:0002510	Spastic tetraplegia	51633	OTUD6B	OMIM:617452
HP:0002510	Spastic tetraplegia	51633	OTUD6B	ORPHA:505237
HP:0002510	Spastic tetraplegia	3747	KCNC2	OMIM:619913
HP:0002510	Spastic tetraplegia	2517	FUCA1	OMIM:230000
HP:0002510	Spastic tetraplegia	2517	FUCA1	ORPHA:349
HP:0002510	Spastic tetraplegia	22931	RAB18	OMIM:614222
HP:0002510	Spastic tetraplegia	4337	MOCS1	OMIM:252150
HP:0002510	Spastic tetraplegia	51091	SEPSECS	OMIM:613811
HP:0002510	Spastic tetraplegia	56270	WDR45B	OMIM:617977
HP:0002510	Spastic tetraplegia	285175	UNC80	ORPHA:371364
HP:0002510	Spastic tetraplegia	9289	ADGRG1	ORPHA:98889
HP:0002510	Spastic tetraplegia	5297	PI4KA	ORPHA:98889
HP:0002510	Spastic tetraplegia	27286	SRPX2	ORPHA:98889
HP:0002510	Spastic tetraplegia	1528	CYB5A	ORPHA:621
HP:0002510	Spastic tetraplegia	1727	CYB5R3	ORPHA:621
HP:0002510	Spastic tetraplegia	51611	DPH5	OMIM:620070
HP:0002510	Spastic tetraplegia	5700	PSMC1	OMIM:620071
HP:0002510	Spastic tetraplegia	8050	PDHX	OMIM:245349
HP:0002510	Spastic tetraplegia	100147744	RNU7-1	OMIM:619487
HP:0002510	Spastic tetraplegia	100147744	RNU7-1	ORPHA:51
HP:0002510	Spastic tetraplegia	90522	YIF1B	OMIM:619125
HP:0002510	Spastic tetraplegia	3800	KIF5C	OMIM:615282
HP:0002510	Spastic tetraplegia	6472	SHMT2	OMIM:619121
HP:0002510	Spastic tetraplegia	2893	GRIA4	OMIM:617864
HP:0002510	Spastic tetraplegia	23400	ATP13A2	OMIM:617225
HP:0002510	Spastic tetraplegia	10297	APC2	OMIM:618677
HP:0002510	Spastic tetraplegia	55164	SHQ1	OMIM:619922
HP:0002510	Spastic tetraplegia	6509	SLC1A4	OMIM:616657
HP:0002510	Spastic tetraplegia	9562	MINPP1	OMIM:619527
HP:0002510	Spastic tetraplegia	6663	SOX10	OMIM:609136
HP:0002510	Spastic tetraplegia	55739	NAXD	OMIM:618321
HP:0002510	Spastic tetraplegia	440	ASNS	OMIM:615574
HP:0002510	Spastic tetraplegia	777	CACNA1E	OMIM:618285
HP:0002510	Spastic tetraplegia	200205	IBA57	OMIM:615330
HP:0002510	Spastic tetraplegia	1284	COL4A2	OMIM:614483
HP:0002510	Spastic tetraplegia	64919	BCL11B	OMIM:617237
HP:0002510	Spastic tetraplegia	55275	VPS53	OMIM:615851
HP:0002510	Spastic tetraplegia	57679	ALS2	ORPHA:293168
HP:0002510	Spastic tetraplegia	57679	ALS2	OMIM:607225
HP:0002510	Spastic tetraplegia	2806	GOT2	OMIM:618721
HP:0002510	Spastic tetraplegia	51294	PCDH12	OMIM:251280
HP:0002510	Spastic tetraplegia	23189	KANK1	OMIM:612900
HP:0002510	Spastic tetraplegia	2055	CLN8	ORPHA:1947
HP:0002510	Spastic tetraplegia	57192	MCOLN1	OMIM:252650
HP:0002510	Spastic tetraplegia	28962	OSTM1	OMIM:259720
HP:0002510	Spastic tetraplegia	80704	SLC19A3	ORPHA:263410
HP:0002510	Spastic tetraplegia	3735	KARS1	OMIM:619147
HP:0002510	Spastic tetraplegia	51645	PPIL1	OMIM:619301
HP:0002510	Spastic tetraplegia	51362	CDC40	OMIM:619302
HP:0002510	Spastic tetraplegia	51075	TMX2	OMIM:618730
HP:0002510	Spastic tetraplegia	1496	CTNNA2	OMIM:618174
HP:0002510	Spastic tetraplegia	120	ADD3	OMIM:617008
HP:0002510	Spastic tetraplegia	8398	PLA2G6	OMIM:256600
HP:0002510	Spastic tetraplegia	6326	SCN2A	OMIM:613721
HP:0002510	Spastic tetraplegia	55770	EXOC2	OMIM:619306
HP:0002510	Spastic tetraplegia	10695	CNPY3	OMIM:617929
HP:0002510	Spastic tetraplegia	10535	RNASEH2A	ORPHA:51
HP:0002510	Spastic tetraplegia	84153	RNASEH2C	ORPHA:51
HP:0002510	Spastic tetraplegia	25939	SAMHD1	ORPHA:51
HP:0002510	Spastic tetraplegia	79621	RNASEH2B	ORPHA:51
HP:0002510	Spastic tetraplegia	103	ADAR	ORPHA:51
HP:0002510	Spastic tetraplegia	11277	TREX1	ORPHA:51
HP:0002510	Spastic tetraplegia	134353	LSM11	ORPHA:51
HP:0002510	Spastic tetraplegia	64135	IFIH1	ORPHA:51
HP:0002510	Spastic tetraplegia	2902	GRIN1	ORPHA:208447
HP:0002510	Spastic tetraplegia	410	ARSA	OMIM:250100
HP:0007291	Posterior fossa cyst	9897	WASHC5	OMIM:220210
HP:0007291	Posterior fossa cyst	2073	ERCC5	OMIM:616570
HP:0007291	Posterior fossa cyst	30813	VSX1	OMIM:614195
HP:0007291	Posterior fossa cyst	23007	PLCH1	OMIM:619895
HP:0007291	Posterior fossa cyst	392255	GDF6	OMIM:118100
HP:0007291	Posterior fossa cyst	5159	PDGFRB	OMIM:601812
HP:0007291	Posterior fossa cyst	18	ABAT	OMIM:613163
HP:0007291	Posterior fossa cyst	727676	SNORD118	ORPHA:542310
HP:0007291	Posterior fossa cyst	79848	CSPP1	OMIM:615636
HP:0007291	Posterior fossa cyst	1801	DPH1	ORPHA:459061
HP:0007291	Posterior fossa cyst	29954	POMT2	OMIM:236670
HP:0007291	Posterior fossa cyst	9215	LARGE1	OMIM:236670
HP:0007291	Posterior fossa cyst	79147	FKRP	OMIM:236670
HP:0007291	Posterior fossa cyst	10585	POMT1	OMIM:236670
HP:0007291	Posterior fossa cyst	2218	FKTN	OMIM:236670
HP:0007291	Posterior fossa cyst	2263	FGFR2	OMIM:101200
HP:0007291	Posterior fossa cyst	22827	PUF60	ORPHA:508498
HP:0006986	Upper limb spasticity	9897	WASHC5	OMIM:603563
HP:0006986	Upper limb spasticity	9897	WASHC5	ORPHA:100989
HP:0006986	Upper limb spasticity	23111	SPART	OMIM:275900
HP:0006986	Upper limb spasticity	6904	TBCD	OMIM:617193
HP:0006986	Upper limb spasticity	9420	CYP7B1	ORPHA:100986
HP:0006986	Upper limb spasticity	9420	CYP7B1	OMIM:270800
HP:0006986	Upper limb spasticity	23259	DDHD2	OMIM:615033
HP:0006986	Upper limb spasticity	57679	ALS2	OMIM:205100
HP:0006986	Upper limb spasticity	57679	ALS2	ORPHA:300605
HP:0006986	Upper limb spasticity	51412	ACTL6B	OMIM:618468
HP:0006986	Upper limb spasticity	1183	CLCN4	ORPHA:485350
HP:0006986	Upper limb spasticity	85465	SELENOI	OMIM:618768
HP:0006986	Upper limb spasticity	57704	GBA2	OMIM:614409
HP:0006986	Upper limb spasticity	57704	GBA2	ORPHA:320391
HP:0006986	Upper limb spasticity	2521	FUS	ORPHA:300605
HP:0006986	Upper limb spasticity	80208	SPG11	ORPHA:300605
HP:0006986	Upper limb spasticity	10280	SIGMAR1	ORPHA:300605
HP:0006986	Upper limb spasticity	10558	SPTLC1	ORPHA:300605
HP:0006986	Upper limb spasticity	3798	KIF5A	ORPHA:100991
HP:0006986	Upper limb spasticity	81790	RNF170	OMIM:619686
HP:0006986	Upper limb spasticity	23503	ZFYVE26	ORPHA:100996
HP:0006986	Upper limb spasticity	5277	PIGA	OMIM:300868
HP:0006986	Upper limb spasticity	51271	UBAP1	OMIM:618418
HP:0006986	Upper limb spasticity	2583	B4GALNT1	OMIM:609195
HP:0006986	Upper limb spasticity	57165	GJC2	OMIM:613206
HP:0006986	Upper limb spasticity	11160	ERLIN2	OMIM:611225
HP:0006986	Upper limb spasticity	57038	RARS2	OMIM:611523
HP:0006986	Upper limb spasticity	6304	SATB1	OMIM:619229
HP:0006986	Upper limb spasticity	57156	TMEM63C	OMIM:619966
HP:0006986	Upper limb spasticity	57187	THOC2	ORPHA:457240
HP:0006986	Upper limb spasticity	220296	HEPACAM	OMIM:613925
HP:0000707	Abnormality of the nervous system	51256	TBC1D7	OMIM:248000
HP:0000707	Abnormality of the nervous system	8294	H4C9	OMIM:619951
HP:0000707	Abnormality of the nervous system	4897	NRCAM	OMIM:619833
HP:0000707	Abnormality of the nervous system	65082	VPS33A	ORPHA:505248
HP:0000707	Abnormality of the nervous system	3039	HBA1	ORPHA:163596
HP:0000707	Abnormality of the nervous system	3040	HBA2	ORPHA:163596
HP:0000707	Abnormality of the nervous system	63901	FAM111A	OMIM:602361
HP:0000707	Abnormality of the nervous system	3981	LIG4	ORPHA:235
HP:0000707	Abnormality of the nervous system	54888	NSUN2	ORPHA:235
HP:0000707	Abnormality of the nervous system	5034	P4HB	OMIM:112240
HP:0000707	Abnormality of the nervous system	55621	TRMT1	OMIM:618302
HP:0000707	Abnormality of the nervous system	3052	HCCS	OMIM:309801
HP:0000707	Abnormality of the nervous system	3052	HCCS	ORPHA:2556
HP:0000707	Abnormality of the nervous system	55699	IARS2	OMIM:616007
HP:0000707	Abnormality of the nervous system	2683	B4GALT1	ORPHA:79332
HP:0000707	Abnormality of the nervous system	2683	B4GALT1	OMIM:607091
HP:0000707	Abnormality of the nervous system	8643	PTCH2	ORPHA:377
HP:0000707	Abnormality of the nervous system	54941	RNF125	OMIM:616260
HP:0000707	Abnormality of the nervous system	286204	CRB2	OMIM:219730
HP:0000707	Abnormality of the nervous system	7046	TGFBR1	OMIM:609192
HP:0000707	Abnormality of the nervous system	1801	DPH1	ORPHA:459061
HP:0000707	Abnormality of the nervous system	79068	FTO	OMIM:612938
HP:0000707	Abnormality of the nervous system	56975	FAM20C	OMIM:259775
HP:0000707	Abnormality of the nervous system	340665	CYP26C1	ORPHA:398189
HP:0000707	Abnormality of the nervous system	5831	PYCR1	OMIM:612940
HP:0000707	Abnormality of the nervous system	10013	HDAC6	OMIM:300863
HP:0000707	Abnormality of the nervous system	10013	HDAC6	ORPHA:163966
HP:0000707	Abnormality of the nervous system	54809	SAMD9	OMIM:617053
HP:0000707	Abnormality of the nervous system	4534	MTM1	OMIM:310400
HP:0000707	Abnormality of the nervous system	55640	FLVCR2	OMIM:225790
HP:0000707	Abnormality of the nervous system	23387	SIK3	OMIM:618162
HP:0000707	Abnormality of the nervous system	55898	UNC45A	OMIM:619377
HP:0000707	Abnormality of the nervous system	6913	TBX15	OMIM:260660
HP:0000707	Abnormality of the nervous system	55315	SLC29A3	ORPHA:168569
HP:0000707	Abnormality of the nervous system	7403	KDM6A	OMIM:147920
HP:0000707	Abnormality of the nervous system	7403	KDM6A	ORPHA:2322
HP:0000707	Abnormality of the nervous system	10262	SF3B4	OMIM:154400
HP:0000707	Abnormality of the nervous system	6662	SOX9	OMIM:114290
HP:0000707	Abnormality of the nervous system	5340	PLG	ORPHA:722
HP:0000707	Abnormality of the nervous system	5340	PLG	OMIM:217090
HP:0000707	Abnormality of the nervous system	64327	LMBR1	ORPHA:2378
HP:0000707	Abnormality of the nervous system	51134	CEP83	OMIM:615862
HP:0000707	Abnormality of the nervous system	2719	GPC3	OMIM:312870
HP:0000707	Abnormality of the nervous system	579	NKX3-2	OMIM:613330
HP:0000707	Abnormality of the nervous system	7473	WNT3	ORPHA:3301
HP:0000707	Abnormality of the nervous system	7473	WNT3	OMIM:273395
HP:0000707	Abnormality of the nervous system	340419	RSPO2	ORPHA:3301
HP:0000707	Abnormality of the nervous system	411	ARSB	OMIM:253200
HP:0000707	Abnormality of the nervous system	84162	BLTP1	OMIM:617822
HP:0000707	Abnormality of the nervous system	5604	MAP2K1	ORPHA:1340
HP:0000707	Abnormality of the nervous system	9791	PTDSS1	ORPHA:2658
HP:0000707	Abnormality of the nervous system	112752	IFT43	OMIM:617866
HP:0000707	Abnormality of the nervous system	139285	AMER1	OMIM:300373
HP:0000707	Abnormality of the nervous system	126792	B3GALT6	ORPHA:536467
HP:0000707	Abnormality of the nervous system	9469	CHST3	OMIM:245600
HP:0000707	Abnormality of the nervous system	26229	B3GAT3	OMIM:245600
HP:0000707	Abnormality of the nervous system	51399	TRAPPC4	OMIM:618741
HP:0000707	Abnormality of the nervous system	6228	RPS23	OMIM:617412
HP:0000707	Abnormality of the nervous system	84520	GON7	OMIM:619603
HP:0000707	Abnormality of the nervous system	10111	RAD50	OMIM:613078
HP:0000707	Abnormality of the nervous system	55681	SCYL2	OMIM:618766
HP:0000707	Abnormality of the nervous system	54916	TMEM260	OMIM:617478
HP:0000707	Abnormality of the nervous system	5426	POLE	OMIM:618336
HP:0000707	Abnormality of the nervous system	3479	IGF1	ORPHA:73272
HP:0000707	Abnormality of the nervous system	3479	IGF1	OMIM:608747
HP:0000707	Abnormality of the nervous system	27125	AFF4	ORPHA:444077
HP:0000707	Abnormality of the nervous system	27125	AFF4	OMIM:616368
HP:0000707	Abnormality of the nervous system	2334	AFF2	OMIM:309548
HP:0000707	Abnormality of the nervous system	92255	LMBRD2	OMIM:619694
HP:0000707	Abnormality of the nervous system	2019	EN1	OMIM:619218
HP:0000707	Abnormality of the nervous system	4613	MYCN	OMIM:164280
HP:0000707	Abnormality of the nervous system	4613	MYCN	ORPHA:391641
HP:0000707	Abnormality of the nervous system	51729	WBP11	OMIM:619227
HP:0000707	Abnormality of the nervous system	2707	GJB3	ORPHA:317
HP:0000707	Abnormality of the nervous system	2531	KDSR	ORPHA:317
HP:0000707	Abnormality of the nervous system	127534	GJB4	ORPHA:317
HP:0000707	Abnormality of the nervous system	134218	DNAJC21	OMIM:617052
HP:0000707	Abnormality of the nervous system	27107	ZBTB11	OMIM:618383
HP:0000707	Abnormality of the nervous system	201595	STT3B	ORPHA:370924
HP:0000707	Abnormality of the nervous system	201595	STT3B	OMIM:615597
HP:0000707	Abnormality of the nervous system	10436	EMG1	OMIM:211180
HP:0000707	Abnormality of the nervous system	10436	EMG1	ORPHA:1270
HP:0000707	Abnormality of the nervous system	64131	XYLT1	ORPHA:370930
HP:0000707	Abnormality of the nervous system	64131	XYLT1	OMIM:615777
HP:0000707	Abnormality of the nervous system	55181	SMG8	OMIM:619268
HP:0000707	Abnormality of the nervous system	25886	POC1A	OMIM:614813
HP:0000707	Abnormality of the nervous system	128	ADH5	OMIM:619151
HP:0000707	Abnormality of the nervous system	9640	ZNF592	ORPHA:83472
HP:0000707	Abnormality of the nervous system	338657	CENATAC	OMIM:620153
HP:0000707	Abnormality of the nervous system	4718	NDUFC2	OMIM:619170
HP:0000707	Abnormality of the nervous system	92579	G6PC3	OMIM:612541
HP:0000707	Abnormality of the nervous system	222663	SCUBE3	OMIM:619184
HP:0000707	Abnormality of the nervous system	9184	BUB3	ORPHA:1052
HP:0000707	Abnormality of the nervous system	699	BUB1	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9702	CEP57	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9702	CEP57	OMIM:614114
HP:0000707	Abnormality of the nervous system	9319	TRIP13	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9319	TRIP13	OMIM:617598
HP:0000707	Abnormality of the nervous system	23036	ZNF292	OMIM:619188
HP:0000707	Abnormality of the nervous system	63894	VIPAS39	OMIM:613404
HP:0000707	Abnormality of the nervous system	83879	CDCA7	OMIM:616910
HP:0000707	Abnormality of the nervous system	54084	TSPEAR	OMIM:620173
HP:0000707	Abnormality of the nervous system	3675	ITGA3	OMIM:614748
HP:0000707	Abnormality of the nervous system	23137	SMC5	OMIM:620185
HP:0000707	Abnormality of the nervous system	388015	RTL1	ORPHA:96334
HP:0000707	Abnormality of the nervous system	8788	DLK1	ORPHA:96334
HP:0000707	Abnormality of the nervous system	55384	MEG3	ORPHA:96334
HP:0000707	Abnormality of the nervous system	9837	GINS1	OMIM:617827
HP:0000707	Abnormality of the nervous system	79840	NHEJ1	ORPHA:169079
HP:0000707	Abnormality of the nervous system	197131	UBR1	ORPHA:2315
HP:0000707	Abnormality of the nervous system	197131	UBR1	OMIM:243800
HP:0000707	Abnormality of the nervous system	55180	LINS1	OMIM:614340
HP:0000707	Abnormality of the nervous system	80152	CENPT	OMIM:618702
HP:0000707	Abnormality of the nervous system	84700	MYO18B	OMIM:616549
HP:0000707	Abnormality of the nervous system	8086	AAAS	OMIM:231550
HP:0000707	Abnormality of the nervous system	8086	AAAS	ORPHA:869
HP:0000707	Abnormality of the nervous system	57647	DHX37	OMIM:618731
HP:0000707	Abnormality of the nervous system	246329	STAC3	OMIM:255995
HP:0000707	Abnormality of the nervous system	3703	STT3A	OMIM:615596
HP:0000707	Abnormality of the nervous system	3703	STT3A	OMIM:619714
HP:0000707	Abnormality of the nervous system	3703	STT3A	ORPHA:370921
HP:0000707	Abnormality of the nervous system	5361	PLXNA1	OMIM:619955
HP:0000707	Abnormality of the nervous system	80153	EDC3	OMIM:616460
HP:0000707	Abnormality of the nervous system	55870	ASH1L	OMIM:617796
HP:0000707	Abnormality of the nervous system	25885	POLR1A	OMIM:616462
HP:0000707	Abnormality of the nervous system	23184	MESD	OMIM:618644
HP:0000707	Abnormality of the nervous system	55109	AGGF1	ORPHA:90308
HP:0000707	Abnormality of the nervous system	26057	ANKRD17	OMIM:619504
HP:0000707	Abnormality of the nervous system	55623	THUMPD1	OMIM:619989
HP:0000707	Abnormality of the nervous system	286	ANK1	ORPHA:251066
HP:0000707	Abnormality of the nervous system	7385	UQCRC2	OMIM:615160
HP:0000707	Abnormality of the nervous system	57479	PRR12	OMIM:619539
HP:0000707	Abnormality of the nervous system	29893	PSMC3IP	ORPHA:243
HP:0000707	Abnormality of the nervous system	171568	POLR3H	ORPHA:243
HP:0000707	Abnormality of the nervous system	2516	NR5A1	ORPHA:243
HP:0000707	Abnormality of the nervous system	125150	ZSWIM7	ORPHA:243
HP:0000707	Abnormality of the nervous system	9210	BMP15	ORPHA:243
HP:0000707	Abnormality of the nervous system	23514	SPIDR	ORPHA:243
HP:0000707	Abnormality of the nervous system	2492	FSHR	ORPHA:243
HP:0000707	Abnormality of the nervous system	646	BNC1	ORPHA:243
HP:0000707	Abnormality of the nervous system	5587	PRKD1	OMIM:617364
HP:0000707	Abnormality of the nervous system	51750	RTEL1	OMIM:615190
HP:0000707	Abnormality of the nervous system	51750	RTEL1	ORPHA:3322
HP:0000707	Abnormality of the nervous system	30000	TNPO2	OMIM:619556
HP:0000707	Abnormality of the nervous system	2627	GATA6	OMIM:600001
HP:0000707	Abnormality of the nervous system	11274	USP18	OMIM:617397
HP:0000707	Abnormality of the nervous system	92344	GORAB	OMIM:231070
HP:0000707	Abnormality of the nervous system	80324	PUS1	OMIM:600462
HP:0000707	Abnormality of the nervous system	80324	PUS1	ORPHA:2598
HP:0000707	Abnormality of the nervous system	9496	TBX4	ORPHA:261279
HP:0000707	Abnormality of the nervous system	5000	ORC4	OMIM:613800
HP:0000707	Abnormality of the nervous system	5000	ORC4	ORPHA:2554
HP:0000707	Abnormality of the nervous system	81620	CDT1	OMIM:613804
HP:0000707	Abnormality of the nervous system	81620	CDT1	ORPHA:2554
HP:0000707	Abnormality of the nervous system	23594	ORC6	OMIM:613803
HP:0000707	Abnormality of the nervous system	23594	ORC6	ORPHA:2554
HP:0000707	Abnormality of the nervous system	990	CDC6	OMIM:613805
HP:0000707	Abnormality of the nervous system	990	CDC6	ORPHA:2554
HP:0000707	Abnormality of the nervous system	50814	NSDHL	OMIM:300831
HP:0000707	Abnormality of the nervous system	50814	NSDHL	ORPHA:251383
HP:0000707	Abnormality of the nervous system	90416	CCDC32	OMIM:619123
HP:0000707	Abnormality of the nervous system	4683	NBN	ORPHA:647
HP:0000707	Abnormality of the nervous system	4683	NBN	OMIM:251260
HP:0000707	Abnormality of the nervous system	8665	EIF3F	OMIM:618295
HP:0000707	Abnormality of the nervous system	221692	PHACTR1	OMIM:618298
HP:0000707	Abnormality of the nervous system	1119	CHKA	OMIM:620023
HP:0000707	Abnormality of the nervous system	183	AGT	OMIM:267430
HP:0000707	Abnormality of the nervous system	5972	REN	OMIM:267430
HP:0000707	Abnormality of the nervous system	185	AGTR1	OMIM:267430
HP:0000707	Abnormality of the nervous system	1636	ACE	OMIM:267430
HP:0000707	Abnormality of the nervous system	4212	MEIS2	OMIM:600987
HP:0000707	Abnormality of the nervous system	4212	MEIS2	ORPHA:261190
HP:0000707	Abnormality of the nervous system	55027	HEATR3	OMIM:620072
HP:0000707	Abnormality of the nervous system	5073	PARN	ORPHA:3322
HP:0000707	Abnormality of the nervous system	5073	PARN	OMIM:616353
HP:0000707	Abnormality of the nervous system	26277	TINF2	ORPHA:3322
HP:0000707	Abnormality of the nervous system	26277	TINF2	OMIM:613990
HP:0000707	Abnormality of the nervous system	1736	DKC1	ORPHA:3322
HP:0000707	Abnormality of the nervous system	1736	DKC1	OMIM:305000
HP:0000707	Abnormality of the nervous system	92154	MTSS2	OMIM:620086
HP:0000707	Abnormality of the nervous system	6307	MSMO1	OMIM:616834
HP:0000707	Abnormality of the nervous system	1828	DSG1	OMIM:615508
HP:0000707	Abnormality of the nervous system	3720	JARID2	OMIM:620098
HP:0000707	Abnormality of the nervous system	55784	MCTP2	ORPHA:1596
HP:0000707	Abnormality of the nervous system	55997	CFC1	OMIM:605376
HP:0000707	Abnormality of the nervous system	83987	CCDC8	OMIM:614205
HP:0000707	Abnormality of the nervous system	202018	TAPT1	OMIM:616897
HP:0000707	Abnormality of the nervous system	6591	SNAI2	ORPHA:2884
HP:0000707	Abnormality of the nervous system	9320	TRIP12	OMIM:617752
HP:0000707	Abnormality of the nervous system	1663	DDX11	OMIM:613398
HP:0000707	Abnormality of the nervous system	2186	BPTF	OMIM:617755
HP:0000707	Abnormality of the nervous system	23498	HAAO	OMIM:617660
HP:0000707	Abnormality of the nervous system	27229	TUBGCP4	OMIM:616335
HP:0000707	Abnormality of the nervous system	27229	TUBGCP4	ORPHA:2518
HP:0000707	Abnormality of the nervous system	3149	HMGB3	OMIM:300915
HP:0000707	Abnormality of the nervous system	788	SLC25A20	ORPHA:159
HP:0000707	Abnormality of the nervous system	83479	DDX59	ORPHA:2919
HP:0000707	Abnormality of the nervous system	83479	DDX59	OMIM:174300
HP:0000707	Abnormality of the nervous system	56098	PCDHGC4	OMIM:619880
HP:0000707	Abnormality of the nervous system	4285	MIPEP	OMIM:617228
HP:0000707	Abnormality of the nervous system	641	BLM	OMIM:210900
HP:0000707	Abnormality of the nervous system	6135	RPL11	ORPHA:124
HP:0000707	Abnormality of the nervous system	6138	RPL15	ORPHA:124
HP:0000707	Abnormality of the nervous system	6229	RPS24	ORPHA:124
HP:0000707	Abnormality of the nervous system	6125	RPL5	ORPHA:124
HP:0000707	Abnormality of the nervous system	6204	RPS10	ORPHA:124
HP:0000707	Abnormality of the nervous system	6165	RPL35A	ORPHA:124
HP:0000707	Abnormality of the nervous system	2623	GATA1	ORPHA:124
HP:0000707	Abnormality of the nervous system	6223	RPS19	ORPHA:124
HP:0000707	Abnormality of the nervous system	6223	RPS19	OMIM:105650
HP:0000707	Abnormality of the nervous system	6232	RPS27	ORPHA:124
HP:0000707	Abnormality of the nervous system	6231	RPS26	ORPHA:124
HP:0000707	Abnormality of the nervous system	11224	RPL35	ORPHA:124
HP:0000707	Abnormality of the nervous system	6160	RPL31	ORPHA:124
HP:0000707	Abnormality of the nervous system	6218	RPS17	ORPHA:124
HP:0000707	Abnormality of the nervous system	6201	RPS7	ORPHA:124
HP:0000707	Abnormality of the nervous system	6155	RPL27	ORPHA:124
HP:0000707	Abnormality of the nervous system	6154	RPL26	ORPHA:124
HP:0000707	Abnormality of the nervous system	6210	RPS15A	ORPHA:124
HP:0000707	Abnormality of the nervous system	90121	TSR2	ORPHA:124
HP:0000707	Abnormality of the nervous system	6141	RPL18	ORPHA:124
HP:0000707	Abnormality of the nervous system	6235	RPS29	ORPHA:124
HP:0000707	Abnormality of the nervous system	6234	RPS28	ORPHA:124
HP:0000707	Abnormality of the nervous system	55656	INTS8	OMIM:618572
HP:0000707	Abnormality of the nervous system	165918	RNF168	OMIM:611943
HP:0000707	Abnormality of the nervous system	165918	RNF168	ORPHA:420741
HP:0000707	Abnormality of the nervous system	286053	NSMCE2	OMIM:617253
HP:0000707	Abnormality of the nervous system	8473	OGT	OMIM:300997
HP:0000707	Abnormality of the nervous system	4041	LRP5	OMIM:259770
HP:0000707	Abnormality of the nervous system	4041	LRP5	ORPHA:891
HP:0000707	Abnormality of the nervous system	4998	ORC1	OMIM:224690
HP:0000707	Abnormality of the nervous system	4998	ORC1	ORPHA:2554
HP:0000707	Abnormality of the nervous system	27341	RRP7A	OMIM:619453
HP:0000707	Abnormality of the nervous system	3376	IARS1	ORPHA:541423
HP:0000707	Abnormality of the nervous system	55651	NHP2	OMIM:224230
HP:0000707	Abnormality of the nervous system	55505	NOP10	OMIM:224230
HP:0000707	Abnormality of the nervous system	7227	TRPS1	ORPHA:502
HP:0000707	Abnormality of the nervous system	374879	ZNF699	OMIM:619488
HP:0000707	Abnormality of the nervous system	60676	PAPPA2	OMIM:619489
HP:0000707	Abnormality of the nervous system	407975	MIR17HG	ORPHA:391646
HP:0000707	Abnormality of the nervous system	55599	RNPC3	OMIM:618160
HP:0000707	Abnormality of the nervous system	63899	NSUN3	OMIM:619012
HP:0000707	Abnormality of the nervous system	2193	FARSA	OMIM:619013
HP:0000707	Abnormality of the nervous system	5557	PRIM1	OMIM:620005
HP:0000707	Abnormality of the nervous system	55294	FBXW7	OMIM:620012
HP:0000707	Abnormality of the nervous system	10225	CD96	OMIM:211750
HP:0000707	Abnormality of the nervous system	10225	CD96	ORPHA:1308
HP:0000707	Abnormality of the nervous system	1763	DNA2	OMIM:615807
HP:0000707	Abnormality of the nervous system	80204	FBXO11	OMIM:618089
HP:0000707	Abnormality of the nervous system	27238	GPKOW	ORPHA:2570
HP:0000707	Abnormality of the nervous system	5648	MASP1	OMIM:257920
HP:0000707	Abnormality of the nervous system	54101	RIPK4	ORPHA:1234
HP:0000707	Abnormality of the nervous system	100506658	OCLN	ORPHA:1229
HP:0000707	Abnormality of the nervous system	100506658	OCLN	OMIM:251290
HP:0000707	Abnormality of the nervous system	157680	VPS13B	ORPHA:193
HP:0000707	Abnormality of the nervous system	157680	VPS13B	OMIM:216550
HP:0000707	Abnormality of the nervous system	51520	LARS1	OMIM:615438
HP:0000707	Abnormality of the nervous system	55617	TASP1	OMIM:618950
HP:0000707	Abnormality of the nervous system	60528	ELAC2	OMIM:615440
HP:0000707	Abnormality of the nervous system	1804	DPP6	ORPHA:2514
HP:0000707	Abnormality of the nervous system	1804	DPP6	OMIM:616311
HP:0000707	Abnormality of the nervous system	8192	CLPP	OMIM:614129
HP:0000707	Abnormality of the nervous system	3020	H3-3A	OMIM:619720
HP:0000707	Abnormality of the nervous system	3021	H3-3B	OMIM:619721
HP:0000707	Abnormality of the nervous system	4056	LTC4S	OMIM:614037
HP:0000707	Abnormality of the nervous system	23761	PISD	OMIM:618889
HP:0000707	Abnormality of the nervous system	7020	TFAP2A	OMIM:113620
HP:0000707	Abnormality of the nervous system	5442	POLRMT	OMIM:619743
HP:0000707	Abnormality of the nervous system	8879	SGPL1	OMIM:617575
HP:0000707	Abnormality of the nervous system	8364	H4C3	OMIM:619758
HP:0000707	Abnormality of the nervous system	145258	GSC	OMIM:602471
HP:0000707	Abnormality of the nervous system	9993	DGCR2	OMIM:192430
HP:0000707	Abnormality of the nervous system	8220	ESS2	OMIM:192430
HP:0000707	Abnormality of the nervous system	8214	DGCR6	OMIM:192430
HP:0000707	Abnormality of the nervous system	54487	DGCR8	OMIM:192430
HP:0000707	Abnormality of the nervous system	51728	POLR3K	OMIM:619310
HP:0000707	Abnormality of the nervous system	6650	CAPN15	OMIM:619318
HP:0000707	Abnormality of the nervous system	2530	FUT8	OMIM:618005
HP:0000707	Abnormality of the nervous system	26276	VPS33B	OMIM:208085
HP:0000707	Abnormality of the nervous system	54681	P4HTM	OMIM:618493
HP:0000707	Abnormality of the nervous system	79143	MBOAT7	OMIM:617188
HP:0000707	Abnormality of the nervous system	23554	TSPAN12	ORPHA:891
HP:0000707	Abnormality of the nervous system	8322	FZD4	ORPHA:891
HP:0000707	Abnormality of the nervous system	36	ACADSB	OMIM:610006
HP:0000707	Abnormality of the nervous system	197257	LDHD	OMIM:245450
HP:0000707	Abnormality of the nervous system	375748	ERCC6L2	OMIM:615715
HP:0000707	Abnormality of the nervous system	867	CBL	OMIM:613563
HP:0000707	Abnormality of the nervous system	79631	EFL1	OMIM:617941
HP:0000707	Abnormality of the nervous system	2584	GALK1	ORPHA:79237
HP:0000707	Abnormality of the nervous system	23397	NCAPH	OMIM:617985
HP:0000707	Abnormality of the nervous system	158326	FREM1	OMIM:614485
HP:0000707	Abnormality of the nervous system	23133	PHF8	OMIM:300263
HP:0000707	Abnormality of the nervous system	51733	UPB1	OMIM:613161
HP:0000707	Abnormality of the nervous system	23001	WDFY3	OMIM:617520
HP:0000707	Abnormality of the nervous system	91452	ACBD5	OMIM:618863
HP:0000707	Abnormality of the nervous system	51660	MPC1	OMIM:614741
HP:0000707	Abnormality of the nervous system	23287	AGTPBP1	ORPHA:2254
HP:0000707	Abnormality of the nervous system	8318	CDC45	OMIM:617063
HP:0000707	Abnormality of the nervous system	4190	MDH1	OMIM:618959
HP:0000707	Abnormality of the nervous system	51651	PTRH2	OMIM:616263
HP:0000707	Abnormality of the nervous system	203190	LGI3	OMIM:620007
HP:0000707	Abnormality of the nervous system	51294	PCDH12	OMIM:251280
HP:0000707	Abnormality of the nervous system	2801	GOLGA2	OMIM:620240
HP:0000707	Abnormality of the nervous system	9343	EFTUD2	OMIM:610536
HP:0000707	Abnormality of the nervous system	4808	NHLH2	OMIM:619755
HP:0000707	Abnormality of the nervous system	4617	MYF5	OMIM:618155
HP:0000707	Abnormality of the nervous system	220	ALDH1A3	OMIM:615113
HP:0000707	Abnormality of the nervous system	84282	RNF135	ORPHA:137634
HP:0000707	Abnormality of the nervous system	8854	ALDH1A2	OMIM:620025
HP:0000707	Abnormality of the nervous system	415	ARSL	ORPHA:79345
HP:0000707	Abnormality of the nervous system	256297	PTF1A	OMIM:609069
HP:0000707	Abnormality of the nervous system	256297	PTF1A	ORPHA:65288
HP:0000707	Abnormality of the nervous system	8443	GNPAT	OMIM:222765
HP:0000707	Abnormality of the nervous system	8882	ZPR1	OMIM:619321
HP:0000707	Abnormality of the nervous system	5500	PPP1CB	OMIM:617506
HP:0000707	Abnormality of the nervous system	9968	MED12	ORPHA:93932
HP:0000707	Abnormality of the nervous system	1063	CENPF	OMIM:243605
HP:0000707	Abnormality of the nervous system	9401	RECQL4	OMIM:218600
HP:0000707	Abnormality of the nervous system	80173	IFT74	OMIM:619582
HP:0000707	Abnormality of the nervous system	7545	ZIC1	OMIM:618736
HP:0000707	Abnormality of the nervous system	778	CACNA1F	OMIM:300476
HP:0000707	Abnormality of the nervous system	778	CACNA1F	ORPHA:1872
HP:0000707	Abnormality of the nervous system	7299	TYR	OMIM:203100
HP:0000707	Abnormality of the nervous system	7299	TYR	OMIM:606952
HP:0000707	Abnormality of the nervous system	7299	TYR	ORPHA:79431
HP:0000707	Abnormality of the nervous system	7299	TYR	ORPHA:79434
HP:0000707	Abnormality of the nervous system	4166	CHST6	ORPHA:98969
HP:0000707	Abnormality of the nervous system	4166	CHST6	OMIM:217800
HP:0000707	Abnormality of the nervous system	2780	GNAT2	OMIM:613856
HP:0000707	Abnormality of the nervous system	2780	GNAT2	ORPHA:1871
HP:0000707	Abnormality of the nervous system	2780	GNAT2	ORPHA:49382
HP:0000707	Abnormality of the nervous system	197	AHSG	ORPHA:2850
HP:0000707	Abnormality of the nervous system	3694	ITGB6	ORPHA:2850
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98962
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98964
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98960
HP:0000707	Abnormality of the nervous system	7045	TGFBI	OMIM:608470
HP:0000707	Abnormality of the nervous system	7045	TGFBI	OMIM:602082
HP:0000707	Abnormality of the nervous system	6720	SREBF1	OMIM:158310
HP:0000707	Abnormality of the nervous system	6720	SREBF1	OMIM:619016
HP:0000707	Abnormality of the nervous system	54714	CNGB3	OMIM:262300
HP:0000707	Abnormality of the nervous system	54714	CNGB3	ORPHA:1871
HP:0000707	Abnormality of the nervous system	54714	CNGB3	ORPHA:49382
HP:0000707	Abnormality of the nervous system	1638	DCT	OMIM:619165
HP:0000707	Abnormality of the nervous system	755	CFAP410	OMIM:617547
HP:0000707	Abnormality of the nervous system	755	CFAP410	ORPHA:1872
HP:0000707	Abnormality of the nervous system	26504	CNNM4	ORPHA:1873
HP:0000707	Abnormality of the nervous system	26504	CNNM4	OMIM:217080
HP:0000707	Abnormality of the nervous system	8842	PROM1	ORPHA:1872
HP:0000707	Abnormality of the nervous system	8842	PROM1	ORPHA:791
HP:0000707	Abnormality of the nervous system	22926	ATF6	ORPHA:1872
HP:0000707	Abnormality of the nervous system	22926	ATF6	ORPHA:49382
HP:0000707	Abnormality of the nervous system	22926	ATF6	OMIM:616517
HP:0000707	Abnormality of the nervous system	84839	RAX2	ORPHA:1872
HP:0000707	Abnormality of the nervous system	84839	RAX2	OMIM:610381
HP:0000707	Abnormality of the nervous system	24	ABCA4	ORPHA:1872
HP:0000707	Abnormality of the nervous system	24	ABCA4	ORPHA:791
HP:0000707	Abnormality of the nervous system	1261	CNGA3	ORPHA:1872
HP:0000707	Abnormality of the nervous system	1261	CNGA3	ORPHA:49382
HP:0000707	Abnormality of the nervous system	1261	CNGA3	OMIM:216900
HP:0000707	Abnormality of the nervous system	92211	CDHR1	ORPHA:1872
HP:0000707	Abnormality of the nervous system	92211	CDHR1	OMIM:613660
HP:0000707	Abnormality of the nervous system	92211	CDHR1	ORPHA:791
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	ORPHA:1872
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	OMIM:303700
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	ORPHA:16
HP:0000707	Abnormality of the nervous system	5961	PRPH2	ORPHA:1872
HP:0000707	Abnormality of the nervous system	5961	PRPH2	ORPHA:52427
HP:0000707	Abnormality of the nervous system	5961	PRPH2	ORPHA:791
HP:0000707	Abnormality of the nervous system	5961	PRPH2	OMIM:613105
HP:0000707	Abnormality of the nervous system	5961	PRPH2	OMIM:169150
HP:0000707	Abnormality of the nervous system	5961	PRPH2	OMIM:608161
HP:0000707	Abnormality of the nervous system	8754	ADAM9	ORPHA:1872
HP:0000707	Abnormality of the nervous system	22999	RIMS1	ORPHA:1872
HP:0000707	Abnormality of the nervous system	128338	DRAM2	ORPHA:1872
HP:0000707	Abnormality of the nervous system	128338	DRAM2	OMIM:616502
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	ORPHA:1872
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	OMIM:303700
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	ORPHA:16
HP:0000707	Abnormality of the nervous system	9094	UNC119	ORPHA:1872
HP:0000707	Abnormality of the nervous system	93589	CACNA2D4	ORPHA:1872
HP:0000707	Abnormality of the nervous system	93589	CACNA2D4	OMIM:610478
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	ORPHA:1872
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	ORPHA:1871
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	OMIM:602093
HP:0000707	Abnormality of the nervous system	282809	POC1B	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83394	PITPNM3	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83394	PITPNM3	OMIM:600977
HP:0000707	Abnormality of the nervous system	23093	TTLL5	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83723	TLCD3B	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83723	TLCD3B	OMIM:619531
HP:0000707	Abnormality of the nervous system	157657	CFAP418	ORPHA:1872
HP:0000707	Abnormality of the nervous system	157657	CFAP418	OMIM:614500
HP:0000707	Abnormality of the nervous system	157657	CFAP418	ORPHA:791
HP:0000707	Abnormality of the nervous system	9364	RAB28	ORPHA:1872
HP:0000707	Abnormality of the nervous system	5146	PDE6C	ORPHA:1871
HP:0000707	Abnormality of the nervous system	5146	PDE6C	OMIM:613093
HP:0000707	Abnormality of the nervous system	5146	PDE6C	ORPHA:49382
HP:0000707	Abnormality of the nervous system	169522	KCNV2	OMIM:610356
HP:0000707	Abnormality of the nervous system	200576	PIKFYVE	OMIM:121850
HP:0000707	Abnormality of the nervous system	63915	BLOC1S5	OMIM:619172
HP:0000707	Abnormality of the nervous system	3105	HLA-A	ORPHA:179
HP:0000707	Abnormality of the nervous system	105371045	PERCC1	ORPHA:92050
HP:0000707	Abnormality of the nervous system	283652	SLC24A5	OMIM:113750
HP:0000707	Abnormality of the nervous system	283652	SLC24A5	ORPHA:370097
HP:0000707	Abnormality of the nervous system	79797	ZNF408	OMIM:616469
HP:0000707	Abnormality of the nervous system	79797	ZNF408	ORPHA:791
HP:0000707	Abnormality of the nervous system	64834	ELOVL1	OMIM:618527
HP:0000707	Abnormality of the nervous system	3850	KRT3	OMIM:618767
HP:0000707	Abnormality of the nervous system	80326	WNT10A	OMIM:257980
HP:0000707	Abnormality of the nervous system	80326	WNT10A	OMIM:150400
HP:0000707	Abnormality of the nervous system	8546	AP3B1	OMIM:608233
HP:0000707	Abnormality of the nervous system	1420	CRYGC	OMIM:604307
HP:0000707	Abnormality of the nervous system	4053	LTBP2	OMIM:613086
HP:0000707	Abnormality of the nervous system	5333	PLCD1	ORPHA:2387
HP:0000707	Abnormality of the nervous system	1474	CST6	OMIM:618535
HP:0000707	Abnormality of the nervous system	10804	GJB6	ORPHA:477
HP:0000707	Abnormality of the nervous system	10804	GJB6	OMIM:129500
HP:0000707	Abnormality of the nervous system	5149	PDE6H	OMIM:610024
HP:0000707	Abnormality of the nervous system	5149	PDE6H	ORPHA:49382
HP:0000707	Abnormality of the nervous system	6017	RLBP1	ORPHA:52427
HP:0000707	Abnormality of the nervous system	6017	RLBP1	ORPHA:791
HP:0000707	Abnormality of the nervous system	6010	RHO	ORPHA:52427
HP:0000707	Abnormality of the nervous system	6010	RHO	ORPHA:791
HP:0000707	Abnormality of the nervous system	5959	RDH5	ORPHA:52427
HP:0000707	Abnormality of the nervous system	79803	HPS6	OMIM:614075
HP:0000707	Abnormality of the nervous system	3859	KRT12	OMIM:122100
HP:0000707	Abnormality of the nervous system	326	AIRE	ORPHA:3453
HP:0000707	Abnormality of the nervous system	10002	NR2E3	OMIM:611131
HP:0000707	Abnormality of the nervous system	10002	NR2E3	ORPHA:791
HP:0000707	Abnormality of the nervous system	83938	LRMDA	OMIM:615179
HP:0000707	Abnormality of the nervous system	84168	ANTXR1	OMIM:230740
HP:0000707	Abnormality of the nervous system	84131	CEP78	OMIM:617236
HP:0000707	Abnormality of the nervous system	1634	DCN	OMIM:610048
HP:0000707	Abnormality of the nervous system	2303	FOXC2	ORPHA:33001
HP:0000707	Abnormality of the nervous system	2303	FOXC2	OMIM:153400
HP:0000707	Abnormality of the nervous system	64127	NOD2	ORPHA:90340
HP:0000707	Abnormality of the nervous system	5429	POLH	ORPHA:90342
HP:0000707	Abnormality of the nervous system	5429	POLH	OMIM:278750
HP:0000707	Abnormality of the nervous system	4935	GPR143	ORPHA:54
HP:0000707	Abnormality of the nervous system	4935	GPR143	OMIM:300500
HP:0000707	Abnormality of the nervous system	58495	OVOL2	OMIM:122000
HP:0000707	Abnormality of the nervous system	58495	OVOL2	ORPHA:98973
HP:0000707	Abnormality of the nervous system	6935	ZEB1	ORPHA:98973
HP:0000707	Abnormality of the nervous system	1296	COL8A2	ORPHA:98973
HP:0000707	Abnormality of the nervous system	51151	SLC45A2	ORPHA:79435
HP:0000707	Abnormality of the nervous system	92840	REEP6	ORPHA:791
HP:0000707	Abnormality of the nervous system	6094	ROM1	ORPHA:791
HP:0000707	Abnormality of the nervous system	7401	CLRN1	ORPHA:791
HP:0000707	Abnormality of the nervous system	130557	ZNF513	ORPHA:791
HP:0000707	Abnormality of the nervous system	582	BBS1	ORPHA:791
HP:0000707	Abnormality of the nervous system	23568	ARL2BP	ORPHA:791
HP:0000707	Abnormality of the nervous system	6101	RP1	ORPHA:791
HP:0000707	Abnormality of the nervous system	3419	IDH3A	ORPHA:791
HP:0000707	Abnormality of the nervous system	4751	NEK2	ORPHA:791
HP:0000707	Abnormality of the nervous system	346007	EYS	ORPHA:791
HP:0000707	Abnormality of the nervous system	346007	EYS	OMIM:602772
HP:0000707	Abnormality of the nervous system	8100	IFT88	ORPHA:791
HP:0000707	Abnormality of the nervous system	23020	SNRNP200	ORPHA:791
HP:0000707	Abnormality of the nervous system	762	CA4	ORPHA:791
HP:0000707	Abnormality of the nervous system	196	AHR	ORPHA:791
HP:0000707	Abnormality of the nervous system	123016	TTC8	ORPHA:791
HP:0000707	Abnormality of the nervous system	123016	TTC8	OMIM:613464
HP:0000707	Abnormality of the nervous system	5148	PDE6G	ORPHA:791
HP:0000707	Abnormality of the nervous system	26121	PRPF31	ORPHA:791
HP:0000707	Abnormality of the nervous system	583	BBS2	ORPHA:791
HP:0000707	Abnormality of the nervous system	4117	MAK	ORPHA:791
HP:0000707	Abnormality of the nervous system	25794	FSCN2	ORPHA:791
HP:0000707	Abnormality of the nervous system	375298	CERKL	ORPHA:791
HP:0000707	Abnormality of the nervous system	3420	IDH3B	ORPHA:791
HP:0000707	Abnormality of the nervous system	57670	KIAA1549	ORPHA:791
HP:0000707	Abnormality of the nervous system	7275	TUB	ORPHA:791
HP:0000707	Abnormality of the nervous system	24148	PRPF6	ORPHA:791
HP:0000707	Abnormality of the nervous system	10461	MERTK	ORPHA:791
HP:0000707	Abnormality of the nervous system	57709	SLC7A14	ORPHA:791
HP:0000707	Abnormality of the nervous system	768206	PRCD	ORPHA:791
HP:0000707	Abnormality of the nervous system	7399	USH2A	ORPHA:791
HP:0000707	Abnormality of the nervous system	23370	ARHGEF18	ORPHA:791
HP:0000707	Abnormality of the nervous system	5949	RBP3	ORPHA:791
HP:0000707	Abnormality of the nervous system	6100	RP9	ORPHA:791
HP:0000707	Abnormality of the nervous system	84140	FAM161A	ORPHA:791
HP:0000707	Abnormality of the nervous system	5145	PDE6A	ORPHA:791
HP:0000707	Abnormality of the nervous system	9128	PRPF4	ORPHA:791
HP:0000707	Abnormality of the nervous system	50939	IMPG2	ORPHA:791
HP:0000707	Abnormality of the nervous system	49855	SCAPER	ORPHA:791
HP:0000707	Abnormality of the nervous system	2979	GUCA1B	ORPHA:791
HP:0000707	Abnormality of the nervous system	1259	CNGA1	ORPHA:791
HP:0000707	Abnormality of the nervous system	1258	CNGB1	ORPHA:791
HP:0000707	Abnormality of the nervous system	60509	AGBL5	ORPHA:791
HP:0000707	Abnormality of the nervous system	388939	PCARE	ORPHA:791
HP:0000707	Abnormality of the nervous system	7439	BEST1	ORPHA:791
HP:0000707	Abnormality of the nervous system	9785	DHX38	ORPHA:791
HP:0000707	Abnormality of the nervous system	5995	RGR	ORPHA:791
HP:0000707	Abnormality of the nervous system	9129	PRPF3	ORPHA:791
HP:0000707	Abnormality of the nervous system	3617	IMPG1	ORPHA:791
HP:0000707	Abnormality of the nervous system	94137	RP1L1	ORPHA:791
HP:0000707	Abnormality of the nervous system	5158	PDE6B	ORPHA:791
HP:0000707	Abnormality of the nervous system	6102	RP2	ORPHA:791
HP:0000707	Abnormality of the nervous system	55857	KIZ	ORPHA:791
HP:0000707	Abnormality of the nervous system	4901	NRL	ORPHA:791
HP:0000707	Abnormality of the nervous system	10594	PRPF8	ORPHA:791
HP:0000707	Abnormality of the nervous system	84100	ARL6	ORPHA:791
HP:0000707	Abnormality of the nervous system	6295	SAG	ORPHA:791
HP:0000707	Abnormality of the nervous system	55630	SLC39A4	ORPHA:37
HP:0000707	Abnormality of the nervous system	114902	C1QTNF5	ORPHA:67042
HP:0000707	Abnormality of the nervous system	83552	MFRP	OMIM:611040
HP:0000707	Abnormality of the nervous system	22861	NLRP1	OMIM:617388
HP:0000707	Abnormality of the nervous system	2784	GNB3	OMIM:617024
HP:0000707	Abnormality of the nervous system	84816	RTN4IP1	OMIM:616732
HP:0000707	Abnormality of the nervous system	11190	CEP250	OMIM:618358
HP:0000707	Abnormality of the nervous system	611	OPN1SW	ORPHA:88629
HP:0000707	Abnormality of the nervous system	6768	ST14	OMIM:602400
HP:0000707	Abnormality of the nervous system	6898	TAT	ORPHA:28378
HP:0000707	Abnormality of the nervous system	2202	EFEMP1	ORPHA:75376
HP:0000707	Abnormality of the nervous system	3426	CFI	ORPHA:75376
HP:0000707	Abnormality of the nervous system	388531	RGS9BP	ORPHA:75374
HP:0000707	Abnormality of the nervous system	8787	RGS9	ORPHA:75374
HP:0000707	Abnormality of the nervous system	4070	TACSTD2	OMIM:204870
HP:0000707	Abnormality of the nervous system	3257	HPS1	OMIM:203300
HP:0000707	Abnormality of the nervous system	1308	COL17A1	ORPHA:293381
HP:0000707	Abnormality of the nervous system	1308	COL17A1	OMIM:122400
HP:0000707	Abnormality of the nervous system	23155	CLCC1	OMIM:609913
HP:0000707	Abnormality of the nervous system	9699	RIMS2	OMIM:618970
HP:0000707	Abnormality of the nervous system	3852	KRT5	ORPHA:79396
HP:0000707	Abnormality of the nervous system	3861	KRT14	ORPHA:79396
HP:0000707	Abnormality of the nervous system	1816	DRD5	OMIM:606798
HP:0000707	Abnormality of the nervous system	79734	KCTD17	OMIM:616398
HP:0000707	Abnormality of the nervous system	8363	H4C11	OMIM:619759
HP:0000707	Abnormality of the nervous system	79083	MLPH	OMIM:609227
HP:0000707	Abnormality of the nervous system	2321	FLT1	ORPHA:275555
HP:0000707	Abnormality of the nervous system	219736	STOX1	ORPHA:275555
HP:0000707	Abnormality of the nervous system	10699	CORIN	ORPHA:275555
HP:0000707	Abnormality of the nervous system	5589	PRKCSH	OMIM:174050
HP:0000707	Abnormality of the nervous system	3229	HOXC13	OMIM:614931
HP:0000707	Abnormality of the nervous system	4014	LORICRIN	ORPHA:79395
HP:0000707	Abnormality of the nervous system	3973	LHCGR	ORPHA:3000
HP:0000707	Abnormality of the nervous system	1175	AP2S1	OMIM:600740
HP:0000707	Abnormality of the nervous system	2289	FKBP5	OMIM:608516
HP:0000707	Abnormality of the nervous system	9918	NCAPD2	OMIM:617983
HP:0000707	Abnormality of the nervous system	4868	NPHS1	ORPHA:656
HP:0000707	Abnormality of the nervous system	23607	CD2AP	ORPHA:656
HP:0000707	Abnormality of the nervous system	9688	NUP93	ORPHA:656
HP:0000707	Abnormality of the nervous system	4643	MYO1E	ORPHA:656
HP:0000707	Abnormality of the nervous system	26130	GAPVD1	ORPHA:656
HP:0000707	Abnormality of the nervous system	51479	ANKFY1	ORPHA:656
HP:0000707	Abnormality of the nervous system	54443	ANLN	ORPHA:656
HP:0000707	Abnormality of the nervous system	5800	PTPRO	ORPHA:656
HP:0000707	Abnormality of the nervous system	23165	NUP205	ORPHA:656
HP:0000707	Abnormality of the nervous system	2013	EMP2	ORPHA:656
HP:0000707	Abnormality of the nervous system	51196	PLCE1	ORPHA:656
HP:0000707	Abnormality of the nervous system	1285	COL4A3	ORPHA:656
HP:0000707	Abnormality of the nervous system	79934	COQ8B	ORPHA:656
HP:0000707	Abnormality of the nervous system	23279	NUP160	ORPHA:656
HP:0000707	Abnormality of the nervous system	9863	MAGI2	ORPHA:656
HP:0000707	Abnormality of the nervous system	81	ACTN4	ORPHA:656
HP:0000707	Abnormality of the nervous system	7225	TRPC6	ORPHA:656
HP:0000707	Abnormality of the nervous system	8542	APOL1	ORPHA:656
HP:0000707	Abnormality of the nervous system	54885	TBC1D8B	ORPHA:656
HP:0000707	Abnormality of the nervous system	7827	NPHS2	ORPHA:656
HP:0000707	Abnormality of the nervous system	83478	ARHGAP24	ORPHA:656
HP:0000707	Abnormality of the nervous system	23500	DAAM2	ORPHA:656
HP:0000707	Abnormality of the nervous system	2324	FLT4	OMIM:618780
HP:0000707	Abnormality of the nervous system	2947	GSTM3	ORPHA:586
HP:0000707	Abnormality of the nervous system	1084	CEACAM3	ORPHA:586
HP:0000707	Abnormality of the nervous system	6556	SLC11A1	ORPHA:586
HP:0000707	Abnormality of the nervous system	51164	DCTN4	ORPHA:586
HP:0000707	Abnormality of the nervous system	3783	KCNN4	ORPHA:586
HP:0000707	Abnormality of the nervous system	4282	MIF	ORPHA:586
HP:0000707	Abnormality of the nervous system	6550	SLC9A3	ORPHA:586
HP:0000707	Abnormality of the nervous system	115019	SLC26A9	ORPHA:586
HP:0000707	Abnormality of the nervous system	11254	SLC6A14	ORPHA:586
HP:0000707	Abnormality of the nervous system	5265	SERPINA1	ORPHA:586
HP:0000707	Abnormality of the nervous system	1080	CFTR	ORPHA:586
HP:0000707	Abnormality of the nervous system	22802	CLCA4	ORPHA:586
HP:0000707	Abnormality of the nervous system	4680	CEACAM6	ORPHA:586
HP:0000707	Abnormality of the nervous system	26012	NSMF	ORPHA:432
HP:0000707	Abnormality of the nervous system	2796	GNRH1	ORPHA:432
HP:0000707	Abnormality of the nervous system	2798	GNRHR	ORPHA:432
HP:0000707	Abnormality of the nervous system	84634	KISS1R	ORPHA:432
HP:0000707	Abnormality of the nervous system	3814	KISS1	ORPHA:432
HP:0000707	Abnormality of the nervous system	10046	MAMLD1	ORPHA:95706
HP:0000707	Abnormality of the nervous system	6532	SLC6A4	OMIM:164230
HP:0000707	Abnormality of the nervous system	6620	SNCB	OMIM:127750
HP:0000707	Abnormality of the nervous system	4091	SMAD6	OMIM:617439
HP:0000707	Abnormality of the nervous system	340990	OTOG	OMIM:614945
HP:0000707	Abnormality of the nervous system	3199	HOXA2	ORPHA:83463
HP:0000707	Abnormality of the nervous system	7068	THRB	OMIM:188570
HP:0000707	Abnormality of the nervous system	286262	TPRN	OMIM:613307
HP:0000707	Abnormality of the nervous system	10484	SEC23A	ORPHA:50814
HP:0000707	Abnormality of the nervous system	1815	DRD4	OMIM:143465
HP:0000707	Abnormality of the nervous system	4054	LTBP3	ORPHA:969
HP:0000707	Abnormality of the nervous system	2693	GHSR	OMIM:615925
HP:0000707	Abnormality of the nervous system	5308	PITX2	OMIM:180500
HP:0000707	Abnormality of the nervous system	60401	EDA2R	ORPHA:181
HP:0000707	Abnormality of the nervous system	1896	EDA	ORPHA:181
HP:0000707	Abnormality of the nervous system	340719	NANOS1	ORPHA:399808
HP:0000707	Abnormality of the nervous system	340719	NANOS1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	56154	TEX15	ORPHA:399805
HP:0000707	Abnormality of the nervous system	6875	TAF4B	ORPHA:399805
HP:0000707	Abnormality of the nervous system	56155	TEX14	ORPHA:399805
HP:0000707	Abnormality of the nervous system	254528	MEIOB	ORPHA:399805
HP:0000707	Abnormality of the nervous system	91057	CCDC34	ORPHA:399805
HP:0000707	Abnormality of the nervous system	317719	KLHL10	ORPHA:399805
HP:0000707	Abnormality of the nervous system	56159	TEX11	ORPHA:399805
HP:0000707	Abnormality of the nervous system	122402	TDRD9	ORPHA:399805
HP:0000707	Abnormality of the nervous system	154197	PNLDC1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	93426	SYCE1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	50511	SYCP3	ORPHA:399805
HP:0000707	Abnormality of the nervous system	5618	PRLR	OMIM:615555
HP:0000707	Abnormality of the nervous system	223117	SEMA3D	ORPHA:388
HP:0000707	Abnormality of the nervous system	10512	SEMA3C	ORPHA:388
HP:0000707	Abnormality of the nervous system	4902	NRTN	ORPHA:388
HP:0000707	Abnormality of the nervous system	4323	MMP14	ORPHA:371428
HP:0000707	Abnormality of the nervous system	6654	SOS1	OMIM:135300
HP:0000707	Abnormality of the nervous system	6654	SOS1	OMIM:610733
HP:0000707	Abnormality of the nervous system	23043	TNIK	OMIM:617028
HP:0000707	Abnormality of the nervous system	7474	WNT5A	OMIM:180700
HP:0000707	Abnormality of the nervous system	7474	WNT5A	ORPHA:3107
HP:0000707	Abnormality of the nervous system	1855	DVL1	OMIM:180700
HP:0000707	Abnormality of the nervous system	1855	DVL1	ORPHA:3107
HP:0000707	Abnormality of the nervous system	1174	AP1S1	ORPHA:171851
HP:0000707	Abnormality of the nervous system	1174	AP1S1	OMIM:609313
HP:0000707	Abnormality of the nervous system	10555	AGPAT2	OMIM:608594
HP:0000707	Abnormality of the nervous system	10555	AGPAT2	ORPHA:528
HP:0000707	Abnormality of the nervous system	6473	SHOX	OMIM:249700
HP:0000707	Abnormality of the nervous system	10413	YAP1	ORPHA:1473
HP:0000707	Abnormality of the nervous system	10413	YAP1	OMIM:120433
HP:0000707	Abnormality of the nervous system	7200	TRH	OMIM:275120
HP:0000707	Abnormality of the nervous system	5075	PAX1	ORPHA:2792
HP:0000707	Abnormality of the nervous system	1836	SLC26A2	OMIM:222600
HP:0000707	Abnormality of the nervous system	9076	CLDN1	OMIM:607626
HP:0000707	Abnormality of the nervous system	387	RHOA	OMIM:618727
HP:0000707	Abnormality of the nervous system	83452	RAB33B	OMIM:615222
HP:0000707	Abnormality of the nervous system	109	ADCY3	OMIM:617885
HP:0000707	Abnormality of the nervous system	1460	CSNK2B	OMIM:618732
HP:0000707	Abnormality of the nervous system	10584	COLEC10	OMIM:248340
HP:0000707	Abnormality of the nervous system	10584	COLEC10	ORPHA:293843
HP:0000707	Abnormality of the nervous system	64359	NXN	ORPHA:1507
HP:0000707	Abnormality of the nervous system	4920	ROR2	ORPHA:1507
HP:0000707	Abnormality of the nervous system	4920	ROR2	OMIM:268310
HP:0000707	Abnormality of the nervous system	5567	PRKACB	ORPHA:289
HP:0000707	Abnormality of the nervous system	2735	GLI1	ORPHA:289
HP:0000707	Abnormality of the nervous system	2121	EVC	ORPHA:289
HP:0000707	Abnormality of the nervous system	2121	EVC	OMIM:225500
HP:0000707	Abnormality of the nervous system	51626	DYNC2LI1	ORPHA:289
HP:0000707	Abnormality of the nervous system	132884	EVC2	ORPHA:289
HP:0000707	Abnormality of the nervous system	132884	EVC2	OMIM:225500
HP:0000707	Abnormality of the nervous system	3612	IMPA1	OMIM:617323
HP:0000707	Abnormality of the nervous system	55714	TENM3	OMIM:615145
HP:0000707	Abnormality of the nervous system	153201	SLC36A2	OMIM:242600
HP:0000707	Abnormality of the nervous system	7555	CNBP	OMIM:602668
HP:0000707	Abnormality of the nervous system	79048	SECISBP2	ORPHA:171706
HP:0000707	Abnormality of the nervous system	164656	TMPRSS6	ORPHA:209981
HP:0000707	Abnormality of the nervous system	9820	CUL7	OMIM:273750
HP:0000707	Abnormality of the nervous system	139411	PTCHD1	OMIM:300830
HP:0000707	Abnormality of the nervous system	79005	SCNM1	OMIM:620107
HP:0000707	Abnormality of the nervous system	4810	NHS	ORPHA:627
HP:0000707	Abnormality of the nervous system	6566	SLC16A1	OMIM:616095
HP:0000707	Abnormality of the nervous system	1299	COL9A3	OMIM:620022
HP:0000707	Abnormality of the nervous system	4035	LRP1	OMIM:604093
HP:0000707	Abnormality of the nervous system	11117	EMILIN1	OMIM:620080
HP:0000707	Abnormality of the nervous system	64220	STRA6	ORPHA:2470
HP:0000707	Abnormality of the nervous system	5915	RARB	ORPHA:2470
HP:0000707	Abnormality of the nervous system	5915	RARB	OMIM:615524
HP:0000707	Abnormality of the nervous system	8195	MKKS	ORPHA:2473
HP:0000707	Abnormality of the nervous system	8195	MKKS	ORPHA:110
HP:0000707	Abnormality of the nervous system	8195	MKKS	OMIM:605231
HP:0000707	Abnormality of the nervous system	79791	FBXO31	OMIM:615979
HP:0000707	Abnormality of the nervous system	55212	BBS7	OMIM:615984
HP:0000707	Abnormality of the nervous system	55212	BBS7	ORPHA:110
HP:0000707	Abnormality of the nervous system	585	BBS4	OMIM:615982
HP:0000707	Abnormality of the nervous system	585	BBS4	ORPHA:110
HP:0000707	Abnormality of the nervous system	92482	BBIP1	OMIM:615995
HP:0000707	Abnormality of the nervous system	92482	BBIP1	ORPHA:110
HP:0000707	Abnormality of the nervous system	11020	IFT27	OMIM:615996
HP:0000707	Abnormality of the nervous system	11020	IFT27	ORPHA:110
HP:0000707	Abnormality of the nervous system	91179	SCARF2	OMIM:600920
HP:0000707	Abnormality of the nervous system	23233	EXOC6B	ORPHA:93359
HP:0000707	Abnormality of the nervous system	10082	GPC6	ORPHA:93329
HP:0000707	Abnormality of the nervous system	406932	MIR140	OMIM:618618
HP:0000707	Abnormality of the nervous system	64412	GZF1	OMIM:617662
HP:0000707	Abnormality of the nervous system	84984	CEP19	ORPHA:110
HP:0000707	Abnormality of the nervous system	84984	CEP19	OMIM:615703
HP:0000707	Abnormality of the nervous system	1749	DLX5	OMIM:183600
HP:0000707	Abnormality of the nervous system	55250	ELP2	OMIM:617270
HP:0000707	Abnormality of the nervous system	389856	USP27X	OMIM:300984
HP:0000707	Abnormality of the nervous system	10491	CRTAP	OMIM:610682
HP:0000707	Abnormality of the nervous system	5468	PPARG	ORPHA:528
HP:0000707	Abnormality of the nervous system	2353	FOS	ORPHA:528
HP:0000707	Abnormality of the nervous system	79023	NUP37	OMIM:618179
HP:0000707	Abnormality of the nervous system	118429	ANTXR2	OMIM:228600
HP:0000707	Abnormality of the nervous system	8216	LZTR1	OMIM:605275
HP:0000707	Abnormality of the nervous system	55764	IFT122	OMIM:218330
HP:0000707	Abnormality of the nervous system	84061	MAGT1	OMIM:301031
HP:0000707	Abnormality of the nervous system	117581	TWIST2	OMIM:209885
HP:0000707	Abnormality of the nervous system	114928	GPRASP2	OMIM:301018
HP:0000707	Abnormality of the nervous system	55553	SOX6	OMIM:618971
HP:0000707	Abnormality of the nervous system	64682	ANAPC1	ORPHA:221008
HP:0000707	Abnormality of the nervous system	6016	RIT1	OMIM:615355
HP:0000707	Abnormality of the nervous system	3891	KRT85	OMIM:602032
HP:0000707	Abnormality of the nervous system	514	ATP5F1E	OMIM:614053
HP:0000707	Abnormality of the nervous system	1789	DNMT3B	OMIM:242860
HP:0000707	Abnormality of the nervous system	1789	DNMT3B	ORPHA:2268
HP:0000707	Abnormality of the nervous system	4351	MPI	ORPHA:79319
HP:0000707	Abnormality of the nervous system	79882	ZC3H14	OMIM:617125
HP:0000707	Abnormality of the nervous system	2628	GATM	OMIM:612718
HP:0000707	Abnormality of the nervous system	4882	NPR2	OMIM:602875
HP:0000707	Abnormality of the nervous system	23118	TAB2	ORPHA:228410
HP:0000707	Abnormality of the nervous system	7102	TSPAN7	OMIM:300210
HP:0000707	Abnormality of the nervous system	649	BMP1	OMIM:614856
HP:0000707	Abnormality of the nervous system	1857	DVL3	ORPHA:3107
HP:0000707	Abnormality of the nervous system	2535	FZD2	ORPHA:3107
HP:0000707	Abnormality of the nervous system	78989	COLEC11	OMIM:265050
HP:0000707	Abnormality of the nervous system	78989	COLEC11	ORPHA:293843
HP:0000707	Abnormality of the nervous system	8671	SLC4A4	OMIM:604278
HP:0000707	Abnormality of the nervous system	3549	IHH	OMIM:607778
HP:0000707	Abnormality of the nervous system	338917	VSX2	OMIM:610093
HP:0000707	Abnormality of the nervous system	6505	SLC1A1	OMIM:222730
HP:0000707	Abnormality of the nervous system	151	ADRA2B	ORPHA:86814
HP:0000707	Abnormality of the nervous system	2582	GALE	OMIM:230350
HP:0000707	Abnormality of the nervous system	55209	SETD5	ORPHA:404440
HP:0000707	Abnormality of the nervous system	3909	LAMA3	ORPHA:79404
HP:0000707	Abnormality of the nervous system	3918	LAMC2	ORPHA:79404
HP:0000707	Abnormality of the nervous system	3914	LAMB3	ORPHA:79404
HP:0000707	Abnormality of the nervous system	396	ARHGDIA	OMIM:615244
HP:0000707	Abnormality of the nervous system	2348	FOLR1	OMIM:613068
HP:0000707	Abnormality of the nervous system	5476	CTSA	ORPHA:351
HP:0000707	Abnormality of the nervous system	5476	CTSA	OMIM:256540
HP:0000707	Abnormality of the nervous system	57609	DIP2B	OMIM:136630
HP:0000707	Abnormality of the nervous system	6448	SGSH	OMIM:252900
HP:0000707	Abnormality of the nervous system	1950	EGF	OMIM:611718
HP:0000707	Abnormality of the nervous system	51114	ZDHHC9	ORPHA:776
HP:0000707	Abnormality of the nervous system	346171	ZFP57	ORPHA:99886
HP:0000707	Abnormality of the nervous system	801	CALM1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3753	KCNE1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3753	KCNE1	ORPHA:90647
HP:0000707	Abnormality of the nervous system	805	CALM2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	805	CALM2	OMIM:616249
HP:0000707	Abnormality of the nervous system	6910	TBX5	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6336	SCN10A	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6336	SCN10A	ORPHA:46348
HP:0000707	Abnormality of the nervous system	3757	KCNH2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	9992	KCNE2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	10142	AKAP9	ORPHA:101016
HP:0000707	Abnormality of the nervous system	9722	NOS1AP	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3784	KCNQ1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3784	KCNQ1	ORPHA:90647
HP:0000707	Abnormality of the nervous system	10345	TRDN	ORPHA:101016
HP:0000707	Abnormality of the nervous system	10345	TRDN	OMIM:604772
HP:0000707	Abnormality of the nervous system	6330	SCN4B	ORPHA:101016
HP:0000707	Abnormality of the nervous system	808	CALM3	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6640	SNTA1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	287	ANK2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	486	FXYD2	OMIM:154020
HP:0000707	Abnormality of the nervous system	24140	FTSJ1	OMIM:309549
HP:0000707	Abnormality of the nervous system	819	CAMLG	OMIM:620201
HP:0000707	Abnormality of the nervous system	7066	THPO	ORPHA:71493
HP:0000707	Abnormality of the nervous system	356	FASLG	ORPHA:3261
HP:0000707	Abnormality of the nervous system	5580	PRKCD	ORPHA:3261
HP:0000707	Abnormality of the nervous system	843	CASP10	ORPHA:3261
HP:0000707	Abnormality of the nervous system	10125	RASGRP1	ORPHA:3261
HP:0000707	Abnormality of the nervous system	58528	RRAGD	OMIM:620152
HP:0000707	Abnormality of the nervous system	412	STS	ORPHA:281090
HP:0000707	Abnormality of the nervous system	55858	TMEM165	OMIM:614727
HP:0000707	Abnormality of the nervous system	55148	UBR7	OMIM:619189
HP:0000707	Abnormality of the nervous system	1013	CDH15	OMIM:612580
HP:0000707	Abnormality of the nervous system	3661	IRF3	OMIM:616532
HP:0000707	Abnormality of the nervous system	5873	RAB27A	OMIM:607624
HP:0000707	Abnormality of the nervous system	5873	RAB27A	ORPHA:79477
HP:0000707	Abnormality of the nervous system	51317	PHF21A	OMIM:618725
HP:0000707	Abnormality of the nervous system	51317	PHF21A	ORPHA:52022
HP:0000707	Abnormality of the nervous system	2212	FCGR2A	OMIM:152700
HP:0000707	Abnormality of the nervous system	2213	FCGR2B	OMIM:152700
HP:0000707	Abnormality of the nervous system	1773	DNASE1	OMIM:152700
HP:0000707	Abnormality of the nervous system	23417	MLYCD	OMIM:248360
HP:0000707	Abnormality of the nervous system	6855	SYP	OMIM:300802
HP:0000707	Abnormality of the nervous system	22884	WDR37	OMIM:618652
HP:0000707	Abnormality of the nervous system	2157	F8	ORPHA:169805
HP:0000707	Abnormality of the nervous system	55217	TMLHE	OMIM:300872
HP:0000707	Abnormality of the nervous system	79705	LRRK1	OMIM:615198
HP:0000707	Abnormality of the nervous system	162514	TRPV3	ORPHA:659
HP:0000707	Abnormality of the nervous system	64065	PERP	ORPHA:659
HP:0000707	Abnormality of the nervous system	1491	CTH	ORPHA:212
HP:0000707	Abnormality of the nervous system	11005	SPINK5	ORPHA:634
HP:0000707	Abnormality of the nervous system	118987	PDZD8	OMIM:620021
HP:0000707	Abnormality of the nervous system	3073	HEXA	OMIM:272800
HP:0000707	Abnormality of the nervous system	9719	ADAMTSL2	OMIM:231050
HP:0000707	Abnormality of the nervous system	22859	ADGRL1	OMIM:620065
HP:0000707	Abnormality of the nervous system	84317	CCDC115	OMIM:616828
HP:0000707	Abnormality of the nervous system	54413	NLGN3	OMIM:300425
HP:0000707	Abnormality of the nervous system	51004	COQ6	OMIM:614650
HP:0000707	Abnormality of the nervous system	3835	KIF22	ORPHA:93360
HP:0000707	Abnormality of the nervous system	2464	FRA16E	OMIM:136570
HP:0000707	Abnormality of the nervous system	5495	PPM1B	ORPHA:163693
HP:0000707	Abnormality of the nervous system	6519	SLC3A1	ORPHA:163693
HP:0000707	Abnormality of the nervous system	79823	CAMKMT	ORPHA:163693
HP:0000707	Abnormality of the nervous system	10369	CACNG2	OMIM:614256
HP:0000707	Abnormality of the nervous system	6262	RYR2	OMIM:604772
HP:0000707	Abnormality of the nervous system	845	CASQ2	OMIM:604772
HP:0000707	Abnormality of the nervous system	845	CASQ2	OMIM:611938
HP:0000707	Abnormality of the nervous system	27068	PPA2	OMIM:617222
HP:0000707	Abnormality of the nervous system	3773	KCNJ16	OMIM:619406
HP:0000707	Abnormality of the nervous system	4126	MANBA	ORPHA:118
HP:0000707	Abnormality of the nervous system	4126	MANBA	OMIM:248510
HP:0000707	Abnormality of the nervous system	6557	SLC12A1	OMIM:601678
HP:0000707	Abnormality of the nervous system	1278	COL1A2	ORPHA:230851
HP:0000707	Abnormality of the nervous system	9693	RAPGEF2	OMIM:618075
HP:0000707	Abnormality of the nervous system	63916	ELMO2	ORPHA:3019
HP:0000707	Abnormality of the nervous system	5624	PROC	OMIM:612304
HP:0000707	Abnormality of the nervous system	3782	KCNN3	ORPHA:3473
HP:0000707	Abnormality of the nervous system	5627	PROS1	OMIM:614514
HP:0000707	Abnormality of the nervous system	10616	RBCK1	OMIM:615895
HP:0000707	Abnormality of the nervous system	56479	KCNQ5	OMIM:617601
HP:0000707	Abnormality of the nervous system	63932	STEEP1	OMIM:301013
HP:0000707	Abnormality of the nervous system	6182	MRPL12	OMIM:618951
HP:0000707	Abnormality of the nervous system	11141	IL1RAPL1	OMIM:300143
HP:0000707	Abnormality of the nervous system	50651	SLC45A1	OMIM:617532
HP:0000707	Abnormality of the nervous system	3158	HMGCS2	ORPHA:35701
HP:0000707	Abnormality of the nervous system	249	ALPL	OMIM:241500
HP:0000707	Abnormality of the nervous system	249	ALPL	OMIM:241510
HP:0000707	Abnormality of the nervous system	140803	TRPM6	OMIM:602014
HP:0000707	Abnormality of the nervous system	5898	RALA	OMIM:619311
HP:0000707	Abnormality of the nervous system	4942	OAT	ORPHA:414
HP:0000707	Abnormality of the nervous system	1725	DHPS	OMIM:618480
HP:0000707	Abnormality of the nervous system	5144	PDE4D	ORPHA:439822
HP:0000707	Abnormality of the nervous system	3198	HOXA1	OMIM:601536
HP:0000707	Abnormality of the nervous system	51371	POMP	OMIM:618048
HP:0000707	Abnormality of the nervous system	10295	BCKDK	OMIM:614923
HP:0000707	Abnormality of the nervous system	55074	OXR1	OMIM:213000
HP:0000707	Abnormality of the nervous system	22897	CEP164	OMIM:614845
HP:0000707	Abnormality of the nervous system	84818	IL17RC	ORPHA:1334
HP:0000707	Abnormality of the nervous system	64581	CLEC7A	ORPHA:1334
HP:0000707	Abnormality of the nervous system	23765	IL17RA	ORPHA:1334
HP:0000707	Abnormality of the nervous system	10758	TRAF3IP2	ORPHA:1334
HP:0000707	Abnormality of the nervous system	112744	IL17F	ORPHA:1334
HP:0000707	Abnormality of the nervous system	63929	XPNPEP3	OMIM:613159
HP:0000707	Abnormality of the nervous system	9130	FAM50A	OMIM:300261
HP:0000707	Abnormality of the nervous system	26146	TRAF3IP1	ORPHA:3156
HP:0000707	Abnormality of the nervous system	27130	INVS	ORPHA:3156
HP:0000707	Abnormality of the nervous system	57728	WDR19	ORPHA:3156
HP:0000707	Abnormality of the nervous system	2038	EPB42	ORPHA:822
HP:0000707	Abnormality of the nervous system	6710	SPTB	ORPHA:822
HP:0000707	Abnormality of the nervous system	6708	SPTA1	ORPHA:822
HP:0000707	Abnormality of the nervous system	7012	TERC	OMIM:127550
HP:0000707	Abnormality of the nervous system	79991	STN1	OMIM:617341
HP:0000707	Abnormality of the nervous system	4509	MT-ATP8	ORPHA:480
HP:0000707	Abnormality of the nervous system	8996	NOL3	OMIM:614937
HP:0000707	Abnormality of the nervous system	2299	FOXI1	ORPHA:705
HP:0000707	Abnormality of the nervous system	22901	ARSG	ORPHA:231183
HP:0000707	Abnormality of the nervous system	229	ALDOB	OMIM:229600
HP:0000707	Abnormality of the nervous system	229	ALDOB	ORPHA:469
HP:0000707	Abnormality of the nervous system	148738	HJV	OMIM:602390
HP:0000707	Abnormality of the nervous system	148738	HJV	ORPHA:79230
HP:0000707	Abnormality of the nervous system	79783	SUGCT	ORPHA:35706
HP:0000707	Abnormality of the nervous system	55788	LMBRD1	OMIM:277380
HP:0000707	Abnormality of the nervous system	55788	LMBRD1	ORPHA:79284
HP:0000707	Abnormality of the nervous system	3141	HLCS	OMIM:253270
HP:0000707	Abnormality of the nervous system	3141	HLCS	ORPHA:79242
HP:0000707	Abnormality of the nervous system	64087	MCCC2	OMIM:210210
HP:0000707	Abnormality of the nervous system	9377	COX5A	OMIM:619064
HP:0000707	Abnormality of the nervous system	55065	SLC52A1	OMIM:615026
HP:0000707	Abnormality of the nervous system	1591	CYP24A1	OMIM:143880
HP:0000707	Abnormality of the nervous system	56922	MCCC1	OMIM:210200
HP:0000707	Abnormality of the nervous system	6521	SLC4A1	OMIM:611590
HP:0000707	Abnormality of the nervous system	1629	DBT	OMIM:248600
HP:0000707	Abnormality of the nervous system	593	BCKDHA	OMIM:248600
HP:0000707	Abnormality of the nervous system	594	BCKDHB	OMIM:248600
HP:0000707	Abnormality of the nervous system	166785	MMAA	OMIM:251100
HP:0000707	Abnormality of the nervous system	50506	DUOX2	ORPHA:226316
HP:0000707	Abnormality of the nervous system	50506	DUOX2	ORPHA:95716
HP:0000707	Abnormality of the nervous system	654	BMP6	ORPHA:465508
HP:0000707	Abnormality of the nervous system	7201	TRHR	ORPHA:99832
HP:0000707	Abnormality of the nervous system	7201	TRHR	OMIM:618573
HP:0000707	Abnormality of the nervous system	6528	SLC5A5	OMIM:274400
HP:0000707	Abnormality of the nervous system	6528	SLC5A5	ORPHA:95716
HP:0000707	Abnormality of the nervous system	5076	PAX2	ORPHA:97362
HP:0000707	Abnormality of the nervous system	6948	TCN2	OMIM:275350
HP:0000707	Abnormality of the nervous system	3875	KRT18	OMIM:215600
HP:0000707	Abnormality of the nervous system	2710	GK	OMIM:307030
HP:0000707	Abnormality of the nervous system	7019	TFAM	OMIM:617156
HP:0000707	Abnormality of the nervous system	405753	DUOXA2	ORPHA:95716
HP:0000707	Abnormality of the nervous system	7038	TG	ORPHA:95716
HP:0000707	Abnormality of the nervous system	7173	TPO	ORPHA:95716
HP:0000707	Abnormality of the nervous system	389434	IYD	ORPHA:95716
HP:0000707	Abnormality of the nervous system	3712	IVD	OMIM:243500
HP:0000707	Abnormality of the nervous system	3172	HNF4A	ORPHA:263455
HP:0000707	Abnormality of the nervous system	57817	HAMP	ORPHA:79230
HP:0000707	Abnormality of the nervous system	326625	MMAB	OMIM:251110
HP:0000707	Abnormality of the nervous system	435	ASL	OMIM:207900
HP:0000707	Abnormality of the nervous system	54796	BNC2	ORPHA:93110
HP:0000707	Abnormality of the nervous system	2998	GYS2	ORPHA:2089
HP:0000707	Abnormality of the nervous system	9054	NFS1	OMIM:619386
HP:0000707	Abnormality of the nervous system	3764	KCNJ8	ORPHA:1517
HP:0000707	Abnormality of the nervous system	10060	ABCC9	ORPHA:1517
HP:0000707	Abnormality of the nervous system	10060	ABCC9	OMIM:239850
HP:0000707	Abnormality of the nervous system	7086	TKT	ORPHA:488618
HP:0000707	Abnormality of the nervous system	84572	GNPTG	OMIM:252605
HP:0000707	Abnormality of the nervous system	81794	ADAMTS10	OMIM:277600
HP:0000707	Abnormality of the nervous system	81794	ADAMTS10	ORPHA:3449
HP:0000707	Abnormality of the nervous system	10021	HCN4	OMIM:619521
HP:0000707	Abnormality of the nervous system	9158	FIBP	OMIM:617107
HP:0000707	Abnormality of the nervous system	178	AGL	ORPHA:366
HP:0000707	Abnormality of the nervous system	6885	MAP3K7	OMIM:617137
HP:0000707	Abnormality of the nervous system	4568	MT-TL2	ORPHA:663
HP:0000707	Abnormality of the nervous system	3714	JAG2	OMIM:619566
HP:0000707	Abnormality of the nervous system	51119	SBDS	OMIM:260400
HP:0000707	Abnormality of the nervous system	6729	SRP54	OMIM:260400
HP:0000707	Abnormality of the nervous system	537	ATP6AP1	OMIM:300972
HP:0000707	Abnormality of the nervous system	55213	RCBTB1	OMIM:617175
HP:0000707	Abnormality of the nervous system	5894	RAF1	ORPHA:500
HP:0000707	Abnormality of the nervous system	84905	ZNF341	OMIM:618282
HP:0000707	Abnormality of the nervous system	4256	MGP	OMIM:245150
HP:0000707	Abnormality of the nervous system	4256	MGP	ORPHA:85202
HP:0000707	Abnormality of the nervous system	375056	MIA3	OMIM:619269
HP:0000707	Abnormality of the nervous system	284361	EMC10	OMIM:619264
HP:0000707	Abnormality of the nervous system	6499	SKIC2	ORPHA:84064
HP:0000707	Abnormality of the nervous system	6853	SYN1	OMIM:300115
HP:0000707	Abnormality of the nervous system	6866	TAC3	OMIM:614839
HP:0000707	Abnormality of the nervous system	65109	UPF3B	OMIM:300676
HP:0000707	Abnormality of the nervous system	254065	BRWD3	OMIM:300659
HP:0000707	Abnormality of the nervous system	79738	BBS10	OMIM:615987
HP:0000707	Abnormality of the nervous system	169792	GLIS3	OMIM:610199
HP:0000707	Abnormality of the nervous system	2122	MECOM	OMIM:616738
HP:0000707	Abnormality of the nervous system	57502	NLGN4X	OMIM:300495
HP:0000707	Abnormality of the nervous system	518	ATP5MC3	OMIM:619681
HP:0000707	Abnormality of the nervous system	10068	IL18BP	OMIM:618549
HP:0000707	Abnormality of the nervous system	1814	DRD3	OMIM:190300
HP:0000707	Abnormality of the nervous system	6237	RRAS	ORPHA:648
HP:0000707	Abnormality of the nervous system	22808	MRAS	ORPHA:648
HP:0000707	Abnormality of the nervous system	6655	SOS2	ORPHA:648
HP:0000707	Abnormality of the nervous system	5922	RASA2	ORPHA:648
HP:0000707	Abnormality of the nervous system	4927	NUP88	ORPHA:994
HP:0000707	Abnormality of the nervous system	51109	RDH11	OMIM:616108
HP:0000707	Abnormality of the nervous system	51109	RDH11	ORPHA:436245
HP:0000707	Abnormality of the nervous system	54345	SOX18	OMIM:137940
HP:0000707	Abnormality of the nervous system	11311	VPS45	OMIM:615285
HP:0000707	Abnormality of the nervous system	6603	SMARCD2	OMIM:617475
HP:0000707	Abnormality of the nervous system	6888	TALDO1	ORPHA:101028
HP:0000707	Abnormality of the nervous system	7372	UMPS	ORPHA:30
HP:0000707	Abnormality of the nervous system	7372	UMPS	OMIM:258900
HP:0000707	Abnormality of the nervous system	84068	SLC10A7	OMIM:618363
HP:0000707	Abnormality of the nervous system	63931	MRPS14	OMIM:618378
HP:0000707	Abnormality of the nervous system	55719	SLF2	OMIM:620184
HP:0000707	Abnormality of the nervous system	121278	TPH2	OMIM:613003
HP:0000707	Abnormality of the nervous system	10736	SIX2	ORPHA:488437
HP:0000707	Abnormality of the nervous system	85301	COL27A1	OMIM:615155
HP:0000707	Abnormality of the nervous system	6514	SLC2A2	OMIM:227810
HP:0000707	Abnormality of the nervous system	54938	SARS2	OMIM:613845
HP:0000707	Abnormality of the nervous system	9080	CLDN9	OMIM:619093
HP:0000707	Abnormality of the nervous system	147007	TMEM199	OMIM:616829
HP:0000707	Abnormality of the nervous system	9775	EIF4A3	OMIM:268305
HP:0000707	Abnormality of the nervous system	51025	PAM16	OMIM:613320
HP:0000707	Abnormality of the nervous system	865	CBFB	OMIM:620099
HP:0000707	Abnormality of the nervous system	9780	PIEZO1	OMIM:616843
HP:0000707	Abnormality of the nervous system	26258	BLOC1S6	OMIM:614171
HP:0000707	Abnormality of the nervous system	6809	STX3	OMIM:619446
HP:0000707	Abnormality of the nervous system	6809	STX3	ORPHA:2290
HP:0000707	Abnormality of the nervous system	3988	LIPA	ORPHA:75233
HP:0000707	Abnormality of the nervous system	137814	NKX2-6	OMIM:217095
HP:0000707	Abnormality of the nervous system	11151	CORO1A	OMIM:615401
HP:0000707	Abnormality of the nervous system	79576	NKAP	OMIM:301039
HP:0000707	Abnormality of the nervous system	25	ABL1	OMIM:617602
HP:0000707	Abnormality of the nervous system	11222	MRPL3	OMIM:614582
HP:0000707	Abnormality of the nervous system	115286	SLC25A26	OMIM:616794
HP:0000707	Abnormality of the nervous system	3162	HMOX1	OMIM:614034
HP:0000707	Abnormality of the nervous system	6440	SFTPC	OMIM:610913
HP:0000707	Abnormality of the nervous system	64175	P3H1	OMIM:610915
HP:0000707	Abnormality of the nervous system	130589	GALM	OMIM:618881
HP:0000707	Abnormality of the nervous system	84701	COX4I2	OMIM:612714
HP:0000707	Abnormality of the nervous system	4645	MYO5B	ORPHA:2290
HP:0000707	Abnormality of the nervous system	22871	NLGN1	OMIM:618830
HP:0000707	Abnormality of the nervous system	79650	USB1	ORPHA:1775
HP:0000707	Abnormality of the nervous system	55135	WRAP53	ORPHA:1775
HP:0000707	Abnormality of the nervous system	7259	TSPYL1	ORPHA:168593
HP:0000707	Abnormality of the nervous system	64856	VWA1	OMIM:619216
HP:0000707	Abnormality of the nervous system	55687	TRMU	ORPHA:254864
HP:0000707	Abnormality of the nervous system	9987	HNRNPDL	OMIM:609115
HP:0000707	Abnormality of the nervous system	10054	UBA2	OMIM:619959
HP:0000707	Abnormality of the nervous system	4919	ROR1	OMIM:617654
HP:0000707	Abnormality of the nervous system	7552	ZNF711	OMIM:300803
HP:0000707	Abnormality of the nervous system	55790	CSGALNACT1	OMIM:618870
HP:0000707	Abnormality of the nervous system	80155	NAA15	OMIM:617787
HP:0000707	Abnormality of the nervous system	2201	FBN2	OMIM:121050
HP:0000707	Abnormality of the nervous system	6660	SOX5	ORPHA:313892
HP:0000707	Abnormality of the nervous system	1777	DNASE2	OMIM:619858
HP:0000707	Abnormality of the nervous system	9581	PREPL	OMIM:616224
HP:0000707	Abnormality of the nervous system	1594	CYP27B1	OMIM:264700
HP:0000707	Abnormality of the nervous system	1594	CYP27B1	ORPHA:289157
HP:0000707	Abnormality of the nervous system	7386	UQCRFS1	OMIM:618775
HP:0000707	Abnormality of the nervous system	4632	MYL1	OMIM:618414
HP:0000707	Abnormality of the nervous system	1187	CLCNKA	OMIM:613090
HP:0000707	Abnormality of the nervous system	1187	CLCNKA	ORPHA:89938
HP:0000707	Abnormality of the nervous system	26038	CHD5	OMIM:619873
HP:0000707	Abnormality of the nervous system	120227	CYP2R1	ORPHA:289157
HP:0000707	Abnormality of the nervous system	9453	GGPS1	OMIM:619518
HP:0000707	Abnormality of the nervous system	9841	ZBTB24	OMIM:614069
HP:0000707	Abnormality of the nervous system	6942	TCF20	OMIM:618430
HP:0000707	Abnormality of the nervous system	51341	ZBTB7A	OMIM:619769
HP:0000707	Abnormality of the nervous system	6901	TAFAZZIN	OMIM:302060
HP:0000707	Abnormality of the nervous system	124583	CANT1	OMIM:251450
HP:0000707	Abnormality of the nervous system	3978	LIG1	OMIM:619774
HP:0000707	Abnormality of the nervous system	5836	PYGL	ORPHA:369
HP:0000707	Abnormality of the nervous system	1523	CUX1	OMIM:618330
HP:0000707	Abnormality of the nervous system	55151	TMEM38B	OMIM:615066
HP:0000707	Abnormality of the nervous system	1291	COL6A1	OMIM:254090
HP:0000707	Abnormality of the nervous system	1291	COL6A1	OMIM:158810
HP:0000707	Abnormality of the nervous system	1292	COL6A2	OMIM:254090
HP:0000707	Abnormality of the nervous system	1292	COL6A2	OMIM:158810
HP:0000707	Abnormality of the nervous system	6477	SIAH1	OMIM:619314
HP:0000707	Abnormality of the nervous system	203547	VMA21	OMIM:310440
HP:0000707	Abnormality of the nervous system	5745	PTH1R	OMIM:600002
HP:0000707	Abnormality of the nervous system	1363	CPE	OMIM:619326
HP:0000707	Abnormality of the nervous system	1741	DLG3	OMIM:300850
HP:0000707	Abnormality of the nervous system	51434	ANAPC7	OMIM:619699
HP:0000707	Abnormality of the nervous system	112812	FDX2	OMIM:251900
HP:0000707	Abnormality of the nervous system	9509	ADAMTS2	OMIM:225410
HP:0000707	Abnormality of the nervous system	113189	CHST14	OMIM:601776
HP:0000707	Abnormality of the nervous system	3636	INPPL1	OMIM:258480
HP:0000707	Abnormality of the nervous system	3557	IL1RN	OMIM:612852
HP:0000707	Abnormality of the nervous system	4322	MMP13	OMIM:250400
HP:0000707	Abnormality of the nervous system	10551	AGR2	OMIM:620233
HP:0000707	Abnormality of the nervous system	11014	KDELR2	OMIM:619131
HP:0000707	Abnormality of the nervous system	100	ADA	OMIM:102700
HP:0000707	Abnormality of the nervous system	5236	PGM1	OMIM:614921
HP:0000707	Abnormality of the nervous system	124093	CCDC78	OMIM:614807
HP:0000707	Abnormality of the nervous system	90523	MLIP	OMIM:620138
HP:0000707	Abnormality of the nervous system	5256	PHKA2	OMIM:306000
HP:0000707	Abnormality of the nervous system	2690	GHR	ORPHA:633
HP:0000707	Abnormality of the nervous system	121340	SP7	OMIM:613849
HP:0000707	Abnormality of the nervous system	27178	IL37	OMIM:619398
HP:0000707	Abnormality of the nervous system	7125	TNNC2	OMIM:620161
HP:0000707	Abnormality of the nervous system	1185	CLCN6	OMIM:619173
HP:0000707	Abnormality of the nervous system	56984	PSMG2	OMIM:619183
HP:0000707	Abnormality of the nervous system	3070	HELLS	OMIM:616911
HP:0000707	Abnormality of the nervous system	165	AEBP1	ORPHA:536532
HP:0000707	Abnormality of the nervous system	10290	SPEG	OMIM:615959
HP:0000707	Abnormality of the nervous system	10290	SPEG	ORPHA:169186
HP:0000707	Abnormality of the nervous system	9321	TRIP11	OMIM:184260
HP:0000707	Abnormality of the nervous system	1028	CDKN1C	ORPHA:397590
HP:0000707	Abnormality of the nervous system	5324	PLAG1	ORPHA:397590
HP:0000707	Abnormality of the nervous system	10430	TMEM147	OMIM:620075
HP:0000707	Abnormality of the nervous system	5092	PCBD1	OMIM:264070
HP:0000707	Abnormality of the nervous system	1374	CPT1A	OMIM:255120
HP:0000707	Abnormality of the nervous system	226	ALDOA	ORPHA:57
HP:0000707	Abnormality of the nervous system	91252	SLC39A13	OMIM:612350
HP:0000707	Abnormality of the nervous system	55603	TENT5A	OMIM:617952
HP:0000707	Abnormality of the nervous system	26007	TKFC	OMIM:618805
HP:0000707	Abnormality of the nervous system	84693	MCEE	OMIM:251120
HP:0000707	Abnormality of the nervous system	4982	TNFRSF11B	OMIM:239000
HP:0000707	Abnormality of the nervous system	7421	VDR	OMIM:277440
HP:0000707	Abnormality of the nervous system	11280	SCN11A	OMIM:615548
HP:0000707	Abnormality of the nervous system	2588	GALNS	OMIM:253000
HP:0000707	Abnormality of the nervous system	23209	MLC1	OMIM:604004
HP:0000707	Abnormality of the nervous system	83737	ITCH	OMIM:613385
HP:0000707	Abnormality of the nervous system	5261	PHKG2	OMIM:613027
HP:0000707	Abnormality of the nervous system	3033	HADH	ORPHA:71212
HP:0000707	Abnormality of the nervous system	374462	PTPRQ	OMIM:613391
HP:0000707	Abnormality of the nervous system	51780	KDM3B	OMIM:618846
HP:0000707	Abnormality of the nervous system	166929	SGMS2	OMIM:126550
HP:0000707	Abnormality of the nervous system	7138	TNNT1	ORPHA:98902
HP:0000707	Abnormality of the nervous system	4848	CNOT2	OMIM:618608
HP:0000707	Abnormality of the nervous system	5087	PBX1	OMIM:617641
HP:0000707	Abnormality of the nervous system	9181	ARHGEF2	OMIM:617523
HP:0000707	Abnormality of the nervous system	25871	NEPRO	OMIM:618853
HP:0000707	Abnormality of the nervous system	4654	MYOD1	OMIM:618975
HP:0000707	Abnormality of the nervous system	22934	RPIA	OMIM:608611
HP:0000707	Abnormality of the nervous system	2729	GCLC	OMIM:230450
HP:0000707	Abnormality of the nervous system	23204	ARL6IP1	ORPHA:401780
HP:0000707	Abnormality of the nervous system	10801	SEPTIN9	ORPHA:2901
HP:0000707	Abnormality of the nervous system	4539	MT-ND4L	OMIM:535000
HP:0000707	Abnormality of the nervous system	10026	PIGK	OMIM:618879
HP:0000707	Abnormality of the nervous system	125988	MICOS13	OMIM:618329
HP:0000707	Abnormality of the nervous system	25929	GEMIN5	OMIM:619333
HP:0000707	Abnormality of the nervous system	64858	DCLRE1B	OMIM:620133
HP:0000707	Abnormality of the nervous system	9512	PMPCB	OMIM:617954
HP:0000707	Abnormality of the nervous system	55904	KMT2E	OMIM:618512
HP:0000707	Abnormality of the nervous system	8241	RBM10	ORPHA:2886
HP:0000707	Abnormality of the nervous system	3476	IGBP1	OMIM:300472
HP:0000707	Abnormality of the nervous system	3476	IGBP1	ORPHA:52055
HP:0000707	Abnormality of the nervous system	1024	CDK8	OMIM:618748
HP:0000707	Abnormality of the nervous system	55112	DYNC2I1	ORPHA:93271
HP:0000707	Abnormality of the nervous system	57560	IFT80	ORPHA:93271
HP:0000707	Abnormality of the nervous system	57539	WDR35	ORPHA:93271
HP:0000707	Abnormality of the nervous system	79659	DYNC2H1	ORPHA:93271
HP:0000707	Abnormality of the nervous system	79659	DYNC2H1	OMIM:613091
HP:0000707	Abnormality of the nervous system	89891	DYNC2I2	ORPHA:93271
HP:0000707	Abnormality of the nervous system	55012	PPP2R3C	OMIM:618419
HP:0000707	Abnormality of the nervous system	129563	DIS3L2	OMIM:267000
HP:0000707	Abnormality of the nervous system	23512	SUZ12	OMIM:618786
HP:0000707	Abnormality of the nervous system	4036	LRP2	OMIM:222448
HP:0000707	Abnormality of the nervous system	64919	BCL11B	OMIM:617237
HP:0000707	Abnormality of the nervous system	164	AP1G1	OMIM:619548
HP:0000707	Abnormality of the nervous system	2879	GPX4	ORPHA:93317
HP:0000707	Abnormality of the nervous system	27185	DISC1	ORPHA:171703
HP:0000707	Abnormality of the nervous system	8320	EOMES	ORPHA:171703
HP:0000707	Abnormality of the nervous system	2657	GDF1	OMIM:208530
HP:0000707	Abnormality of the nervous system	8092	ALX1	ORPHA:306542
HP:0000707	Abnormality of the nervous system	113246	C12orf57	OMIM:218340
HP:0000707	Abnormality of the nervous system	1534	CYB561	OMIM:618182
HP:0000707	Abnormality of the nervous system	1621	DBH	ORPHA:230
HP:0000707	Abnormality of the nervous system	1621	DBH	OMIM:223360
HP:0000707	Abnormality of the nervous system	1136	CHRNA3	OMIM:191800
HP:0000707	Abnormality of the nervous system	1290	COL5A2	ORPHA:287
HP:0000707	Abnormality of the nervous system	3594	IL12RB1	ORPHA:186
HP:0000707	Abnormality of the nervous system	6689	SPIB	ORPHA:186
HP:0000707	Abnormality of the nervous system	5450	POU2AF1	ORPHA:186
HP:0000707	Abnormality of the nervous system	9966	TNFSF15	ORPHA:186
HP:0000707	Abnormality of the nervous system	79258	MMEL1	ORPHA:186
HP:0000707	Abnormality of the nervous system	10755	GIPC1	OMIM:618940
HP:0000707	Abnormality of the nervous system	1272	CNTN1	OMIM:612540
HP:0000707	Abnormality of the nervous system	23175	LPIN1	OMIM:268200
HP:0000707	Abnormality of the nervous system	57222	ERGIC1	ORPHA:1143
HP:0000707	Abnormality of the nervous system	667	DST	OMIM:614653
HP:0000707	Abnormality of the nervous system	23590	PDSS1	OMIM:614651
HP:0000707	Abnormality of the nervous system	112	ADCY6	OMIM:616287
HP:0000707	Abnormality of the nervous system	270	AMPD1	OMIM:615511
HP:0000707	Abnormality of the nervous system	89874	SLC25A21	OMIM:618811
HP:0000707	Abnormality of the nervous system	859	CAV3	ORPHA:488650
HP:0000707	Abnormality of the nervous system	29929	ALG6	OMIM:603147
HP:0000707	Abnormality of the nervous system	51099	ABHD5	ORPHA:98907
HP:0000707	Abnormality of the nervous system	8974	P4HA2	ORPHA:397
HP:0000707	Abnormality of the nervous system	64170	CARD9	OMIM:212050
HP:0000707	Abnormality of the nervous system	695	BTK	OMIM:300755
HP:0000707	Abnormality of the nervous system	695	BTK	ORPHA:47
HP:0000707	Abnormality of the nervous system	695	BTK	OMIM:307200
HP:0000707	Abnormality of the nervous system	7454	WAS	ORPHA:906
HP:0000707	Abnormality of the nervous system	7456	WIPF1	ORPHA:906
HP:0000707	Abnormality of the nervous system	596	BCL2	ORPHA:545
HP:0000707	Abnormality of the nervous system	3492	IGH	ORPHA:545
HP:0000707	Abnormality of the nervous system	604	BCL6	ORPHA:545
HP:0000707	Abnormality of the nervous system	959	CD40LG	OMIM:308230
HP:0000707	Abnormality of the nervous system	5896	RAG1	OMIM:601457
HP:0000707	Abnormality of the nervous system	5897	RAG2	OMIM:601457
HP:0000707	Abnormality of the nervous system	58484	NLRC4	OMIM:616050
HP:0000707	Abnormality of the nervous system	3718	JAK3	OMIM:600802
HP:0000707	Abnormality of the nervous system	629	CFB	OMIM:615561
HP:0000707	Abnormality of the nervous system	3543	IGLL1	OMIM:613500
HP:0000707	Abnormality of the nervous system	3543	IGLL1	ORPHA:33110
HP:0000707	Abnormality of the nervous system	732	C8B	OMIM:613789
HP:0000707	Abnormality of the nervous system	1536	CYBB	ORPHA:379
HP:0000707	Abnormality of the nervous system	4688	NCF2	ORPHA:379
HP:0000707	Abnormality of the nervous system	1535	CYBA	ORPHA:379
HP:0000707	Abnormality of the nervous system	4689	NCF4	ORPHA:379
HP:0000707	Abnormality of the nervous system	79415	CYBC1	ORPHA:379
HP:0000707	Abnormality of the nervous system	2215	FCGR3B	ORPHA:464370
HP:0000707	Abnormality of the nervous system	23495	TNFRSF13B	OMIM:240500
HP:0000707	Abnormality of the nervous system	115650	TNFRSF13C	OMIM:240500
HP:0000707	Abnormality of the nervous system	1380	CR2	OMIM:240500
HP:0000707	Abnormality of the nervous system	29851	ICOS	OMIM:240500
HP:0000707	Abnormality of the nervous system	930	CD19	OMIM:240500
HP:0000707	Abnormality of the nervous system	7037	TFRC	OMIM:616740
HP:0000707	Abnormality of the nervous system	731	C8A	OMIM:613790
HP:0000707	Abnormality of the nervous system	57591	MRTFA	OMIM:618847
HP:0000707	Abnormality of the nervous system	10095	ARPC1B	OMIM:617718
HP:0000707	Abnormality of the nervous system	721	C4B	OMIM:614379
HP:0000707	Abnormality of the nervous system	6688	SPI1	OMIM:619707
HP:0000707	Abnormality of the nervous system	6929	TCF3	ORPHA:33110
HP:0000707	Abnormality of the nervous system	973	CD79A	ORPHA:33110
HP:0000707	Abnormality of the nervous system	974	CD79B	ORPHA:33110
HP:0000707	Abnormality of the nervous system	3507	IGHM	ORPHA:33110
HP:0000707	Abnormality of the nervous system	29760	BLNK	ORPHA:33110
HP:0000707	Abnormality of the nervous system	5295	PIK3R1	ORPHA:33110
HP:0000707	Abnormality of the nervous system	56262	LRRC8A	ORPHA:33110
HP:0000707	Abnormality of the nervous system	22954	TRIM32	ORPHA:1878
HP:0000707	Abnormality of the nervous system	57589	RIC1	OMIM:618761
HP:0000707	Abnormality of the nervous system	8726	EED	OMIM:617561
HP:0000707	Abnormality of the nervous system	11107	PRDM5	OMIM:614170
HP:0000707	Abnormality of the nervous system	11107	PRDM5	ORPHA:90354
HP:0000707	Abnormality of the nervous system	88	ACTN2	OMIM:618655
HP:0000707	Abnormality of the nervous system	7471	WNT1	ORPHA:85193
HP:0000707	Abnormality of the nervous system	89780	WNT3A	ORPHA:85193
HP:0000707	Abnormality of the nervous system	84627	ZNF469	ORPHA:90354
HP:0000707	Abnormality of the nervous system	81848	SPRY4	ORPHA:478
HP:0000707	Abnormality of the nervous system	23767	FLRT3	ORPHA:478
HP:0000707	Abnormality of the nervous system	79625	NDNF	ORPHA:478
HP:0000707	Abnormality of the nervous system	389549	FEZF1	ORPHA:478
HP:0000707	Abnormality of the nervous system	3730	ANOS1	ORPHA:478
HP:0000707	Abnormality of the nervous system	54756	IL17RD	ORPHA:478
HP:0000707	Abnormality of the nervous system	285025	CCDC141	ORPHA:478
HP:0000707	Abnormality of the nervous system	60675	PROK2	ORPHA:478
HP:0000707	Abnormality of the nervous system	1848	DUSP6	ORPHA:478
HP:0000707	Abnormality of the nervous system	6870	TACR3	ORPHA:478
HP:0000707	Abnormality of the nervous system	9394	HS6ST1	ORPHA:478
HP:0000707	Abnormality of the nervous system	8822	FGF17	ORPHA:478
HP:0000707	Abnormality of the nervous system	3188	HNRNPH2	OMIM:300986
HP:0000707	Abnormality of the nervous system	1073	CFL2	OMIM:610687
HP:0000707	Abnormality of the nervous system	1073	CFL2	ORPHA:171436
HP:0000707	Abnormality of the nervous system	80217	CFAP43	OMIM:236690
HP:0000707	Abnormality of the nervous system	3300	DNAJB2	OMIM:614881
HP:0000707	Abnormality of the nervous system	4313	MMP2	OMIM:259600
HP:0000707	Abnormality of the nervous system	60681	FKBP10	ORPHA:1149
HP:0000707	Abnormality of the nervous system	55023	PHIP	ORPHA:589905
HP:0000707	Abnormality of the nervous system	4148	MATN3	ORPHA:93311
HP:0000707	Abnormality of the nervous system	1311	COMP	ORPHA:93308
HP:0000707	Abnormality of the nervous system	7388	UQCRH	OMIM:620137
HP:0000707	Abnormality of the nervous system	5396	PRRX1	ORPHA:990
HP:0000707	Abnormality of the nervous system	56172	ANKH	ORPHA:1522
HP:0000707	Abnormality of the nervous system	2248	FGF3	ORPHA:90024
HP:0000707	Abnormality of the nervous system	9842	PLEKHM1	ORPHA:210110
HP:0000707	Abnormality of the nervous system	6331	SCN5A	OMIM:614022
HP:0000707	Abnormality of the nervous system	6331	SCN5A	OMIM:601154
HP:0000707	Abnormality of the nervous system	55503	TRPV6	OMIM:618188
HP:0000707	Abnormality of the nervous system	7148	TNXB	ORPHA:230839
HP:0000707	Abnormality of the nervous system	5009	OTC	OMIM:311250
HP:0000707	Abnormality of the nervous system	2908	NR3C1	ORPHA:786
HP:0000707	Abnormality of the nervous system	2908	NR3C1	ORPHA:96253
HP:0000707	Abnormality of the nervous system	10560	SLC19A2	ORPHA:49827
HP:0000707	Abnormality of the nervous system	10560	SLC19A2	OMIM:249270
HP:0000707	Abnormality of the nervous system	11093	ADAMTS13	OMIM:274150
HP:0000707	Abnormality of the nervous system	84196	USP48	ORPHA:96253
HP:0000707	Abnormality of the nervous system	3043	HBB	OMIM:603903
HP:0000707	Abnormality of the nervous system	9149	DYRK1B	OMIM:615812
HP:0000707	Abnormality of the nervous system	5346	PLIN1	OMIM:613877
HP:0000707	Abnormality of the nervous system	10370	CITED2	ORPHA:99105
HP:0000707	Abnormality of the nervous system	10370	CITED2	ORPHA:99103
HP:0000707	Abnormality of the nervous system	1471	CST3	OMIM:105150
HP:0000707	Abnormality of the nervous system	1471	CST3	ORPHA:100008
HP:0000707	Abnormality of the nervous system	7092	TLL1	ORPHA:99103
HP:0000707	Abnormality of the nervous system	57057	TBX20	ORPHA:99103
HP:0000707	Abnormality of the nervous system	4624	MYH6	ORPHA:99103
HP:0000707	Abnormality of the nervous system	70	ACTC1	ORPHA:99103
HP:0000707	Abnormality of the nervous system	4607	MYBPC3	OMIM:115197
HP:0000707	Abnormality of the nervous system	7139	TNNT2	ORPHA:75249
HP:0000707	Abnormality of the nervous system	7137	TNNI3	ORPHA:75249
HP:0000707	Abnormality of the nervous system	10112	KIF20A	ORPHA:75249
HP:0000707	Abnormality of the nervous system	189	AGXT	ORPHA:93598
HP:0000707	Abnormality of the nervous system	10269	ZMPSTE24	ORPHA:740
HP:0000707	Abnormality of the nervous system	64132	XYLT2	OMIM:264800
HP:0000707	Abnormality of the nervous system	80206	FHOD3	OMIM:619402
HP:0000707	Abnormality of the nervous system	2147	F2	OMIM:601367
HP:0000707	Abnormality of the nervous system	5583	PRKCH	OMIM:601367
HP:0000707	Abnormality of the nervous system	2153	F5	OMIM:601367
HP:0000707	Abnormality of the nervous system	241	ALOX5AP	OMIM:601367
HP:0000707	Abnormality of the nervous system	445	ASS1	OMIM:215700
HP:0000707	Abnormality of the nervous system	875	CBS	OMIM:236200
HP:0000707	Abnormality of the nervous system	5286	PIK3C2A	ORPHA:557003
HP:0000707	Abnormality of the nervous system	4860	PNP	ORPHA:760
HP:0000707	Abnormality of the nervous system	4878	NPPA	OMIM:615745
HP:0000707	Abnormality of the nervous system	1373	CPS1	OMIM:237300
HP:0000707	Abnormality of the nervous system	7535	ZAP70	ORPHA:911
HP:0000707	Abnormality of the nervous system	4015	LOX	ORPHA:91387
HP:0000707	Abnormality of the nervous system	4087	SMAD2	ORPHA:91387
HP:0000707	Abnormality of the nervous system	7043	TGFB3	ORPHA:91387
HP:0000707	Abnormality of the nervous system	7042	TGFB2	ORPHA:91387
HP:0000707	Abnormality of the nervous system	59	ACTA2	ORPHA:91387
HP:0000707	Abnormality of the nervous system	5592	PRKG1	ORPHA:91387
HP:0000707	Abnormality of the nervous system	2301	FOXE3	ORPHA:91387
HP:0000707	Abnormality of the nervous system	4144	MAT2A	ORPHA:91387
HP:0000707	Abnormality of the nervous system	23493	HEY2	ORPHA:91387
HP:0000707	Abnormality of the nervous system	8076	MFAP5	ORPHA:91387
HP:0000707	Abnormality of the nervous system	4638	MYLK	ORPHA:91387
HP:0000707	Abnormality of the nervous system	763	CA5A	OMIM:615751
HP:0000707	Abnormality of the nervous system	2731	GLDC	OMIM:605899
HP:0000707	Abnormality of the nervous system	275	AMT	OMIM:605899
HP:0000707	Abnormality of the nervous system	2859	GPR35	ORPHA:171
HP:0000707	Abnormality of the nervous system	10507	SEMA4D	ORPHA:171
HP:0000707	Abnormality of the nervous system	4485	MST1	ORPHA:171
HP:0000707	Abnormality of the nervous system	6773	STAT2	OMIM:616636
HP:0000707	Abnormality of the nervous system	28976	ACAD9	ORPHA:99901
HP:0000707	Abnormality of the nervous system	28976	ACAD9	OMIM:611126
HP:0000707	Abnormality of the nervous system	51241	COX16	OMIM:619355
HP:0000707	Abnormality of the nervous system	1537	CYC1	OMIM:615453
HP:0000707	Abnormality of the nervous system	2296	FOXC1	OMIM:602482
HP:0000707	Abnormality of the nervous system	2296	FOXC1	OMIM:601631
HP:0000707	Abnormality of the nervous system	55165	CEP55	OMIM:236500
HP:0000707	Abnormality of the nervous system	9948	WDR1	OMIM:150550
HP:0000707	Abnormality of the nervous system	940	CD28	ORPHA:3162
HP:0000707	Abnormality of the nervous system	7133	TNFRSF1B	ORPHA:3162
HP:0000707	Abnormality of the nervous system	2057	EPOR	OMIM:133100
HP:0000707	Abnormality of the nervous system	2677	GGCX	OMIM:277450
HP:0000707	Abnormality of the nervous system	4179	CD46	ORPHA:244242
HP:0000707	Abnormality of the nervous system	101101692	HELLPAR	ORPHA:244242
HP:0000707	Abnormality of the nervous system	2165	F13B	ORPHA:331
HP:0000707	Abnormality of the nervous system	442721	LMOD2	OMIM:619897
HP:0000707	Abnormality of the nervous system	9103	FCGR2C	ORPHA:3002
HP:0000707	Abnormality of the nervous system	6007	RHD	OMIM:619462
HP:0000707	Abnormality of the nervous system	2660	MSTN	OMIM:614160
HP:0000707	Abnormality of the nervous system	10651	MTX2	OMIM:619127
HP:0000707	Abnormality of the nervous system	871	SERPINH1	OMIM:613848
HP:0000707	Abnormality of the nervous system	261734	NPHP4	OMIM:606996
HP:0000707	Abnormality of the nervous system	261734	NPHP4	OMIM:606966
HP:0000707	Abnormality of the nervous system	359	AQP2	OMIM:125800
HP:0000707	Abnormality of the nervous system	359	AQP2	ORPHA:223
HP:0000707	Abnormality of the nervous system	493856	CISD2	ORPHA:3463
HP:0000707	Abnormality of the nervous system	554	AVPR2	ORPHA:223
HP:0000707	Abnormality of the nervous system	554	AVPR2	OMIM:304800
HP:0000707	Abnormality of the nervous system	51473	DCDC2	ORPHA:84081
HP:0000707	Abnormality of the nervous system	10686	CLDN16	OMIM:248250
HP:0000707	Abnormality of the nervous system	9071	CLDN10	OMIM:617671
HP:0000707	Abnormality of the nervous system	9365	KL	OMIM:617994
HP:0000707	Abnormality of the nervous system	551	AVP	ORPHA:30925
HP:0000707	Abnormality of the nervous system	1584	CYP11B1	ORPHA:403
HP:0000707	Abnormality of the nervous system	1585	CYP11B2	ORPHA:403
HP:0000707	Abnormality of the nervous system	3291	HSD11B2	ORPHA:320
HP:0000707	Abnormality of the nervous system	7809	BSND	OMIM:602522
HP:0000707	Abnormality of the nervous system	3710	ITPR3	OMIM:222100
HP:0000707	Abnormality of the nervous system	3569	IL6	OMIM:222100
HP:0000707	Abnormality of the nervous system	6927	HNF1A	OMIM:222100
HP:0000707	Abnormality of the nervous system	254428	SLC41A1	OMIM:619468
HP:0000707	Abnormality of the nervous system	3758	KCNJ1	OMIM:241200
HP:0000707	Abnormality of the nervous system	9860	LRIG2	ORPHA:2704
HP:0000707	Abnormality of the nervous system	60495	HPSE2	ORPHA:2704
HP:0000707	Abnormality of the nervous system	27241	BBS9	OMIM:615986
HP:0000707	Abnormality of the nervous system	27031	NPHP3	OMIM:604387
HP:0000707	Abnormality of the nervous system	846	CASR	OMIM:239200
HP:0000707	Abnormality of the nervous system	6524	SLC5A2	OMIM:233100
HP:0000707	Abnormality of the nervous system	4524	MTHFR	ORPHA:395
HP:0000707	Abnormality of the nervous system	284058	KANSL1	ORPHA:363958
HP:0000707	Abnormality of the nervous system	284058	KANSL1	OMIM:610443
HP:0000707	Abnormality of the nervous system	284058	KANSL1	ORPHA:363965
HP:0000707	Abnormality of the nervous system	2072	ERCC4	OMIM:278760
HP:0000707	Abnormality of the nervous system	4052	LTBP1	ORPHA:90349
HP:0000707	Abnormality of the nervous system	30008	EFEMP2	ORPHA:90349
HP:0000707	Abnormality of the nervous system	10516	FBLN5	ORPHA:90349
HP:0000707	Abnormality of the nervous system	201163	FLCN	OMIM:610883
HP:0000707	Abnormality of the nervous system	79087	ALG12	ORPHA:79324
HP:0000707	Abnormality of the nervous system	25981	DNAH1	ORPHA:244
HP:0000707	Abnormality of the nervous system	115948	ODAD3	ORPHA:244
HP:0000707	Abnormality of the nervous system	54768	HYDIN	ORPHA:244
HP:0000707	Abnormality of the nervous system	352909	DNAAF3	ORPHA:244
HP:0000707	Abnormality of the nervous system	27148	STK36	ORPHA:244
HP:0000707	Abnormality of the nervous system	51314	NME8	ORPHA:244
HP:0000707	Abnormality of the nervous system	92749	DRC1	ORPHA:244
HP:0000707	Abnormality of the nervous system	54970	TTC12	ORPHA:244
HP:0000707	Abnormality of the nervous system	152110	NEK10	ORPHA:244
HP:0000707	Abnormality of the nervous system	8481	OFD1	ORPHA:244
HP:0000707	Abnormality of the nervous system	2302	FOXJ1	ORPHA:244
HP:0000707	Abnormality of the nervous system	221421	RSPH9	ORPHA:244
HP:0000707	Abnormality of the nervous system	85478	CCDC65	ORPHA:244
HP:0000707	Abnormality of the nervous system	55036	CCDC40	ORPHA:244
HP:0000707	Abnormality of the nervous system	51364	ZMYND10	ORPHA:244
HP:0000707	Abnormality of the nervous system	64446	DNAI2	ORPHA:244
HP:0000707	Abnormality of the nervous system	6674	SPAG1	ORPHA:244
HP:0000707	Abnormality of the nervous system	83544	DNAL1	ORPHA:244
HP:0000707	Abnormality of the nervous system	89765	RSPH1	ORPHA:244
HP:0000707	Abnormality of the nervous system	83538	ODAD4	ORPHA:244
HP:0000707	Abnormality of the nervous system	200373	CFAP221	ORPHA:244
HP:0000707	Abnormality of the nervous system	374407	DNAJB13	ORPHA:244
HP:0000707	Abnormality of the nervous system	55172	DNAAF2	ORPHA:244
HP:0000707	Abnormality of the nervous system	161582	DNAAF4	ORPHA:244
HP:0000707	Abnormality of the nervous system	2622	GAS8	ORPHA:244
HP:0000707	Abnormality of the nervous system	23639	DNAAF11	ORPHA:244
HP:0000707	Abnormality of the nervous system	27019	DNAI1	ORPHA:244
HP:0000707	Abnormality of the nervous system	345895	RSPH4A	ORPHA:244
HP:0000707	Abnormality of the nervous system	54919	DNAAF5	ORPHA:244
HP:0000707	Abnormality of the nervous system	6103	RPGR	ORPHA:244
HP:0000707	Abnormality of the nervous system	388389	CCDC103	ORPHA:244
HP:0000707	Abnormality of the nervous system	93233	ODAD1	ORPHA:244
HP:0000707	Abnormality of the nervous system	55130	ODAD2	ORPHA:244
HP:0000707	Abnormality of the nervous system	1767	DNAH5	ORPHA:244
HP:0000707	Abnormality of the nervous system	83861	RSPH3	ORPHA:244
HP:0000707	Abnormality of the nervous system	345643	MCIDAS	ORPHA:244
HP:0000707	Abnormality of the nervous system	56683	CFAP298	ORPHA:244
HP:0000707	Abnormality of the nervous system	79925	SPEF2	ORPHA:244
HP:0000707	Abnormality of the nervous system	10309	CCNO	ORPHA:244
HP:0000707	Abnormality of the nervous system	115399	LRRC56	ORPHA:244
HP:0000707	Abnormality of the nervous system	139212	DNAAF6	ORPHA:244
HP:0000707	Abnormality of the nervous system	123872	DNAAF1	ORPHA:244
HP:0000707	Abnormality of the nervous system	85016	CFAP300	ORPHA:244
HP:0000707	Abnormality of the nervous system	339829	CCDC39	ORPHA:244
HP:0000707	Abnormality of the nervous system	8701	DNAH11	ORPHA:244
HP:0000707	Abnormality of the nervous system	1770	DNAH9	ORPHA:244
HP:0000707	Abnormality of the nervous system	246176	GAS2L2	ORPHA:244
HP:0000707	Abnormality of the nervous system	652	BMP4	OMIM:607932
HP:0000707	Abnormality of the nervous system	53834	FGFRL1	OMIM:194190
HP:0000707	Abnormality of the nervous system	1487	CTBP1	OMIM:194190
HP:0000707	Abnormality of the nervous system	7468	NSD2	OMIM:194190
HP:0000707	Abnormality of the nervous system	10815	CPLX1	OMIM:194190
HP:0000707	Abnormality of the nervous system	1497	CTNS	OMIM:219800
HP:0000707	Abnormality of the nervous system	2673	GFPT1	OMIM:608931
HP:0000707	Abnormality of the nervous system	1145	CHRNE	OMIM:608931
HP:0000707	Abnormality of the nervous system	1145	CHRNE	OMIM:605809
HP:0000707	Abnormality of the nervous system	1410	CRYAB	OMIM:608810
HP:0000707	Abnormality of the nervous system	1410	CRYAB	ORPHA:399058
HP:0000707	Abnormality of the nervous system	4287	ATXN3	OMIM:109150
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276238
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276244
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276241
HP:0000707	Abnormality of the nervous system	26235	FBXL4	OMIM:615471
HP:0000707	Abnormality of the nervous system	1144	CHRND	OMIM:616321
HP:0000707	Abnormality of the nervous system	1144	CHRND	OMIM:616323
HP:0000707	Abnormality of the nervous system	23446	SLC44A1	OMIM:618868
HP:0000707	Abnormality of the nervous system	4593	MUSK	OMIM:616325
HP:0000707	Abnormality of the nervous system	2720	GLB1	OMIM:230600
HP:0000707	Abnormality of the nervous system	1134	CHRNA1	OMIM:608930
HP:0000707	Abnormality of the nervous system	1134	CHRNA1	OMIM:601462
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	ORPHA:247604
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	ORPHA:280384
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	ORPHA:209951
HP:0000707	Abnormality of the nervous system	9499	MYOT	ORPHA:266
HP:0000707	Abnormality of the nervous system	5339	PLEC	ORPHA:254361
HP:0000707	Abnormality of the nervous system	6687	SPG7	ORPHA:99013
HP:0000707	Abnormality of the nervous system	6687	SPG7	OMIM:607259
HP:0000707	Abnormality of the nervous system	6687	SPG7	ORPHA:35689
HP:0000707	Abnormality of the nervous system	8291	DYSF	ORPHA:268
HP:0000707	Abnormality of the nervous system	4312	MMP1	ORPHA:79408
HP:0000707	Abnormality of the nervous system	4312	MMP1	OMIM:226600
HP:0000707	Abnormality of the nervous system	1294	COL7A1	ORPHA:79408
HP:0000707	Abnormality of the nervous system	1294	COL7A1	OMIM:226600
HP:0000707	Abnormality of the nervous system	1294	COL7A1	ORPHA:89842
HP:0000707	Abnormality of the nervous system	3074	HEXB	ORPHA:309162
HP:0000707	Abnormality of the nervous system	3074	HEXB	ORPHA:309169
HP:0000707	Abnormality of the nervous system	79577	CDC73	ORPHA:143
HP:0000707	Abnormality of the nervous system	79577	CDC73	ORPHA:99880
HP:0000707	Abnormality of the nervous system	65993	MRPS34	OMIM:617664
HP:0000707	Abnormality of the nervous system	6536	SLC6A9	OMIM:617301
HP:0000707	Abnormality of the nervous system	10528	NOP56	OMIM:614153
HP:0000707	Abnormality of the nervous system	10528	NOP56	ORPHA:276198
HP:0000707	Abnormality of the nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0000707	Abnormality of the nervous system	1841	DTYMK	OMIM:619847
HP:0000707	Abnormality of the nervous system	790	CAD	OMIM:616457
HP:0000707	Abnormality of the nervous system	84466	MEGF10	OMIM:614399
HP:0000707	Abnormality of the nervous system	51112	TRAPPC12	OMIM:617669
HP:0000707	Abnormality of the nervous system	51112	TRAPPC12	ORPHA:500144
HP:0000707	Abnormality of the nervous system	3908	LAMA2	ORPHA:258
HP:0000707	Abnormality of the nervous system	5189	PEX1	OMIM:214100
HP:0000707	Abnormality of the nervous system	1890	TYMP	ORPHA:298
HP:0000707	Abnormality of the nervous system	1890	TYMP	OMIM:603041
HP:0000707	Abnormality of the nervous system	3980	LIG3	ORPHA:298
HP:0000707	Abnormality of the nervous system	3980	LIG3	OMIM:619780
HP:0000707	Abnormality of the nervous system	50484	RRM2B	ORPHA:298
HP:0000707	Abnormality of the nervous system	50484	RRM2B	OMIM:613077
HP:0000707	Abnormality of the nervous system	50484	RRM2B	ORPHA:254892
HP:0000707	Abnormality of the nervous system	50484	RRM2B	ORPHA:329336
HP:0000707	Abnormality of the nervous system	8575	PRKRA	ORPHA:210571
HP:0000707	Abnormality of the nervous system	8575	PRKRA	OMIM:612067
HP:0000707	Abnormality of the nervous system	79147	FKRP	OMIM:606612
HP:0000707	Abnormality of the nervous system	348	APOE	OMIM:607822
HP:0000707	Abnormality of the nervous system	5663	PSEN1	OMIM:607822
HP:0000707	Abnormality of the nervous system	215	ABCD1	ORPHA:139396
HP:0000707	Abnormality of the nervous system	7343	UBTF	OMIM:617672
HP:0000707	Abnormality of the nervous system	7343	UBTF	ORPHA:500180
HP:0000707	Abnormality of the nervous system	10939	AFG3L2	ORPHA:313772
HP:0000707	Abnormality of the nervous system	10939	AFG3L2	OMIM:614487
HP:0000707	Abnormality of the nervous system	83480	PUS3	ORPHA:488627
HP:0000707	Abnormality of the nervous system	5621	PRNP	OMIM:600072
HP:0000707	Abnormality of the nervous system	10049	DNAJB6	ORPHA:34516
HP:0000707	Abnormality of the nervous system	10049	DNAJB6	OMIM:603511
HP:0000707	Abnormality of the nervous system	4620	MYH2	OMIM:605637
HP:0000707	Abnormality of the nervous system	857	CAV1	OMIM:606721
HP:0000707	Abnormality of the nervous system	857	CAV1	ORPHA:220402
HP:0000707	Abnormality of the nervous system	857	CAV1	ORPHA:220393
HP:0000707	Abnormality of the nervous system	10935	PRDX3	OMIM:619862
HP:0000707	Abnormality of the nervous system	4297	KMT2A	ORPHA:319182
HP:0000707	Abnormality of the nervous system	246243	RNASEH1	OMIM:616479
HP:0000707	Abnormality of the nervous system	246243	RNASEH1	ORPHA:329336
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:280195
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93925
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:280195
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:280195
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:220386
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:280195
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93926
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93924
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93925
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:280195
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:280195
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:280195
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:280195
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:280195
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93925
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:280195
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:220386
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:280195
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93926
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93924
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93925
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:280195
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2783	GNB2	OMIM:619503
HP:0000707	Abnormality of the nervous system	23007	PLCH1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	10735	STAG2	ORPHA:93925
HP:0000707	Abnormality of the nervous system	10735	STAG2	ORPHA:220386
HP:0000707	Abnormality of the nervous system	950	SCARB2	OMIM:254900
HP:0000707	Abnormality of the nervous system	9897	WASHC5	OMIM:603563
HP:0000707	Abnormality of the nervous system	8622	PDE8B	ORPHA:228169
HP:0000707	Abnormality of the nervous system	253738	EBF3	OMIM:617330
HP:0000707	Abnormality of the nervous system	3572	IL6ST	OMIM:619751
HP:0000707	Abnormality of the nervous system	2911	GRM1	OMIM:617691
HP:0000707	Abnormality of the nervous system	55773	TBC1D23	OMIM:617695
HP:0000707	Abnormality of the nervous system	23259	DDHD2	OMIM:615033
HP:0000707	Abnormality of the nervous system	23259	DDHD2	ORPHA:320380
HP:0000707	Abnormality of the nervous system	54902	TTC19	OMIM:615157
HP:0000707	Abnormality of the nervous system	55823	VPS11	OMIM:619637
HP:0000707	Abnormality of the nervous system	5590	PRKCZ	ORPHA:1606
HP:0000707	Abnormality of the nervous system	2563	GABRD	ORPHA:1606
HP:0000707	Abnormality of the nervous system	23013	SPEN	ORPHA:1606
HP:0000707	Abnormality of the nervous system	23013	SPEN	OMIM:619312
HP:0000707	Abnormality of the nervous system	8510	MMP23B	ORPHA:1606
HP:0000707	Abnormality of the nervous system	7798	LUZP1	ORPHA:1606
HP:0000707	Abnormality of the nervous system	6497	SKI	ORPHA:1606
HP:0000707	Abnormality of the nervous system	10630	PDPN	ORPHA:1606
HP:0000707	Abnormality of the nervous system	3339	HSPG2	ORPHA:1606
HP:0000707	Abnormality of the nervous system	10277	UBE4B	ORPHA:1606
HP:0000707	Abnormality of the nervous system	8514	KCNAB2	ORPHA:1606
HP:0000707	Abnormality of the nervous system	473	RERE	ORPHA:1606
HP:0000707	Abnormality of the nervous system	473	RERE	ORPHA:494344
HP:0000707	Abnormality of the nervous system	63976	PRDM16	ORPHA:1606
HP:0000707	Abnormality of the nervous system	54897	CASZ1	ORPHA:1606
HP:0000707	Abnormality of the nervous system	8659	ALDH4A1	ORPHA:79101
HP:0000707	Abnormality of the nervous system	1180	CLCN1	OMIM:255700
HP:0000707	Abnormality of the nervous system	5860	QDPR	ORPHA:226
HP:0000707	Abnormality of the nervous system	5860	QDPR	OMIM:261630
HP:0000707	Abnormality of the nervous system	7750	ZMYM2	OMIM:619522
HP:0000707	Abnormality of the nervous system	56947	MFF	ORPHA:485421
HP:0000707	Abnormality of the nervous system	56947	MFF	OMIM:617086
HP:0000707	Abnormality of the nervous system	57462	MYORG	OMIM:618317
HP:0000707	Abnormality of the nervous system	9562	MINPP1	OMIM:619527
HP:0000707	Abnormality of the nervous system	540	ATP7B	OMIM:277900
HP:0000707	Abnormality of the nervous system	23314	SATB2	ORPHA:576283
HP:0000707	Abnormality of the nervous system	4626	MYH8	OMIM:158300
HP:0000707	Abnormality of the nervous system	57724	EPG5	OMIM:242840
HP:0000707	Abnormality of the nervous system	1436	CSF1R	OMIM:221820
HP:0000707	Abnormality of the nervous system	55612	FERMT1	ORPHA:2908
HP:0000707	Abnormality of the nervous system	55612	FERMT1	OMIM:173650
HP:0000707	Abnormality of the nervous system	4123	MAN2C1	OMIM:619775
HP:0000707	Abnormality of the nervous system	3798	KIF5A	OMIM:617235
HP:0000707	Abnormality of the nervous system	339855	KY	OMIM:617114
HP:0000707	Abnormality of the nervous system	339855	KY	ORPHA:496689
HP:0000707	Abnormality of the nervous system	79977	GRHL2	OMIM:616029
HP:0000707	Abnormality of the nervous system	7994	KAT6A	OMIM:616268
HP:0000707	Abnormality of the nervous system	23499	MACF1	OMIM:618325
HP:0000707	Abnormality of the nervous system	23499	MACF1	ORPHA:572013
HP:0000707	Abnormality of the nervous system	23219	FBXO28	OMIM:619777
HP:0000707	Abnormality of the nervous system	2055	CLN8	ORPHA:1947
HP:0000707	Abnormality of the nervous system	51322	WAC	ORPHA:466950
HP:0000707	Abnormality of the nervous system	5837	PYGM	ORPHA:368
HP:0000707	Abnormality of the nervous system	2512	FTL	ORPHA:157846
HP:0000707	Abnormality of the nervous system	2512	FTL	OMIM:606159
HP:0000707	Abnormality of the nervous system	10533	ATG7	OMIM:619422
HP:0000707	Abnormality of the nervous system	51117	COQ4	OMIM:616276
HP:0000707	Abnormality of the nervous system	120	ADD3	OMIM:617008
HP:0000707	Abnormality of the nervous system	27429	HTRA2	OMIM:617248
HP:0000707	Abnormality of the nervous system	5081	PAX7	OMIM:618578
HP:0000707	Abnormality of the nervous system	1674	DES	OMIM:181400
HP:0000707	Abnormality of the nervous system	79751	SLC25A22	ORPHA:1935
HP:0000707	Abnormality of the nervous system	150094	SIK1	ORPHA:1935
HP:0000707	Abnormality of the nervous system	4001	LMNB1	ORPHA:99027
HP:0000707	Abnormality of the nervous system	389827	MYMK	OMIM:254940
HP:0000707	Abnormality of the nervous system	291	SLC25A4	ORPHA:254892
HP:0000707	Abnormality of the nervous system	11232	POLG2	ORPHA:254892
HP:0000707	Abnormality of the nervous system	4487	MSX1	ORPHA:141291
HP:0000707	Abnormality of the nervous system	5818	NECTIN1	ORPHA:141291
HP:0000707	Abnormality of the nervous system	8626	TP63	ORPHA:141291
HP:0000707	Abnormality of the nervous system	3664	IRF6	ORPHA:141291
HP:0000707	Abnormality of the nervous system	353116	RILPL1	OMIM:619790
HP:0000707	Abnormality of the nervous system	23111	SPART	OMIM:275900
HP:0000707	Abnormality of the nervous system	23111	SPART	ORPHA:101000
HP:0000707	Abnormality of the nervous system	1499	CTNNB1	OMIM:615075
HP:0000707	Abnormality of the nervous system	56896	DPYSL5	OMIM:619435
HP:0000707	Abnormality of the nervous system	54892	NCAPG2	OMIM:618460
HP:0000707	Abnormality of the nervous system	1859	DYRK1A	ORPHA:268261
HP:0000707	Abnormality of the nervous system	79912	PYROXD1	OMIM:617258
HP:0000707	Abnormality of the nervous system	4719	NDUFS1	OMIM:618226
HP:0000707	Abnormality of the nervous system	1235	CCR6	ORPHA:220402
HP:0000707	Abnormality of the nervous system	1235	CCR6	ORPHA:220393
HP:0000707	Abnormality of the nervous system	79932	KIAA0319L	ORPHA:220402
HP:0000707	Abnormality of the nervous system	1490	CCN2	ORPHA:220402
HP:0000707	Abnormality of the nervous system	1490	CCN2	ORPHA:220393
HP:0000707	Abnormality of the nervous system	3663	IRF5	ORPHA:220402
HP:0000707	Abnormality of the nervous system	3663	IRF5	ORPHA:220393
HP:0000707	Abnormality of the nervous system	3123	HLA-DRB1	ORPHA:220402
HP:0000707	Abnormality of the nervous system	3123	HLA-DRB1	ORPHA:220393
HP:0000707	Abnormality of the nervous system	170302	ARX	OMIM:308350
HP:0000707	Abnormality of the nervous system	91942	NDUFAF2	OMIM:618233
HP:0000707	Abnormality of the nervous system	7084	TK2	ORPHA:254886
HP:0000707	Abnormality of the nervous system	7084	TK2	ORPHA:254875
HP:0000707	Abnormality of the nervous system	7084	TK2	OMIM:617069
HP:0000707	Abnormality of the nervous system	81790	RNF170	OMIM:619686
HP:0000707	Abnormality of the nervous system	84909	AOPEP	OMIM:619565
HP:0000707	Abnormality of the nervous system	25814	ATXN10	OMIM:603516
HP:0000707	Abnormality of the nervous system	5649	RELN	ORPHA:89844
HP:0000707	Abnormality of the nervous system	10300	KATNB1	ORPHA:89844
HP:0000707	Abnormality of the nervous system	54820	NDE1	ORPHA:89844
HP:0000707	Abnormality of the nervous system	4722	NDUFS3	OMIM:618230
HP:0000707	Abnormality of the nervous system	3930	LBR	ORPHA:779
HP:0000707	Abnormality of the nervous system	710	SERPING1	ORPHA:100050
HP:0000707	Abnormality of the nervous system	387119	CEP85L	ORPHA:572013
HP:0000707	Abnormality of the nervous system	6904	TBCD	ORPHA:496641
HP:0000707	Abnormality of the nervous system	427	ASAH1	OMIM:159950
HP:0000707	Abnormality of the nervous system	427	ASAH1	ORPHA:2590
HP:0000707	Abnormality of the nervous system	10059	DNM1L	ORPHA:98673
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:98794
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:98795
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:411511
HP:0000707	Abnormality of the nervous system	4948	OCA2	ORPHA:98794
HP:0000707	Abnormality of the nervous system	5980	REV3L	ORPHA:570
HP:0000707	Abnormality of the nervous system	23129	PLXND1	ORPHA:570
HP:0000707	Abnormality of the nervous system	351	APP	ORPHA:324708
HP:0000707	Abnormality of the nervous system	56915	EXOSC5	OMIM:619576
HP:0000707	Abnormality of the nervous system	51132	RLIM	OMIM:300978
HP:0000707	Abnormality of the nervous system	10588	MTHFS	OMIM:618367
HP:0000707	Abnormality of the nervous system	4704	NDUFA9	OMIM:618247
HP:0000707	Abnormality of the nervous system	29978	UBQLN2	OMIM:300857
HP:0000707	Abnormality of the nervous system	8260	NAA10	OMIM:300855
HP:0000707	Abnormality of the nervous system	182	JAG1	OMIM:619574
HP:0000707	Abnormality of the nervous system	54834	GDAP2	OMIM:618369
HP:0000707	Abnormality of the nervous system	1201	CLN3	ORPHA:228346
HP:0000707	Abnormality of the nervous system	4864	NPC1	OMIM:257220
HP:0000707	Abnormality of the nervous system	5277	PIGA	ORPHA:447
HP:0000707	Abnormality of the nervous system	2131	EXT1	ORPHA:321
HP:0000707	Abnormality of the nervous system	2132	EXT2	ORPHA:321
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:684
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:99735
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:99736
HP:0000707	Abnormality of the nervous system	22827	PUF60	ORPHA:508488
HP:0000707	Abnormality of the nervous system	51102	MECR	OMIM:617282
HP:0000707	Abnormality of the nervous system	51102	MECR	ORPHA:508093
HP:0000707	Abnormality of the nervous system	51324	SPG21	ORPHA:101001
HP:0000707	Abnormality of the nervous system	51324	SPG21	OMIM:248900
HP:0000707	Abnormality of the nervous system	5631	PRPS1	OMIM:301835
HP:0000707	Abnormality of the nervous system	3977	LIFR	OMIM:601559
HP:0000707	Abnormality of the nervous system	2906	GRIN2D	OMIM:617162
HP:0000707	Abnormality of the nervous system	146206	CARMIL2	OMIM:618131
HP:0000707	Abnormality of the nervous system	1822	ATN1	OMIM:618494
HP:0000707	Abnormality of the nervous system	4700	NDUFA6	OMIM:618253
HP:0000707	Abnormality of the nervous system	51305	KCNK9	ORPHA:166108
HP:0000707	Abnormality of the nervous system	51305	KCNK9	OMIM:612292
HP:0000707	Abnormality of the nervous system	1200	TPP1	OMIM:609270
HP:0000707	Abnormality of the nervous system	220296	HEPACAM	OMIM:613925
HP:0000707	Abnormality of the nervous system	26040	SETBP1	ORPHA:798
HP:0000707	Abnormality of the nervous system	4629	MYH11	OMIM:619350
HP:0000707	Abnormality of the nervous system	9757	KMT2B	ORPHA:589618
HP:0000707	Abnormality of the nervous system	6390	SDHB	ORPHA:97286
HP:0000707	Abnormality of the nervous system	6390	SDHB	ORPHA:44890
HP:0000707	Abnormality of the nervous system	6390	SDHB	OMIM:606764
HP:0000707	Abnormality of the nervous system	6391	SDHC	ORPHA:97286
HP:0000707	Abnormality of the nervous system	6391	SDHC	ORPHA:44890
HP:0000707	Abnormality of the nervous system	6391	SDHC	OMIM:606764
HP:0000707	Abnormality of the nervous system	6392	SDHD	ORPHA:97286
HP:0000707	Abnormality of the nervous system	55975	KLHL7	OMIM:617055
HP:0000707	Abnormality of the nervous system	55697	VAC14	OMIM:617054
HP:0000707	Abnormality of the nervous system	10526	IPO8	OMIM:619472
HP:0000707	Abnormality of the nervous system	100996717	NOTCH2NLC	OMIM:619473
HP:0000707	Abnormality of the nervous system	2318	FLNC	ORPHA:63273
HP:0000707	Abnormality of the nervous system	7345	UCHL1	OMIM:620221
HP:0000707	Abnormality of the nervous system	283446	MYO1H	OMIM:619482
HP:0000707	Abnormality of the nervous system	7204	TRIO	OMIM:617061
HP:0000707	Abnormality of the nervous system	8567	MADD	OMIM:619004
HP:0000707	Abnormality of the nervous system	29123	ANKRD11	ORPHA:261250
HP:0000707	Abnormality of the nervous system	673	BRAF	OMIM:613706
HP:0000707	Abnormality of the nervous system	1893	ECM1	ORPHA:530
HP:0000707	Abnormality of the nervous system	1716	DGUOK	OMIM:617070
HP:0000707	Abnormality of the nervous system	1716	DGUOK	ORPHA:329314
HP:0000707	Abnormality of the nervous system	23636	NUP62	ORPHA:225154
HP:0000707	Abnormality of the nervous system	23636	NUP62	OMIM:271930
HP:0000707	Abnormality of the nervous system	103	ADAR	ORPHA:225154
HP:0000707	Abnormality of the nervous system	72	ACTG2	OMIM:155310
HP:0000707	Abnormality of the nervous system	6389	SDHA	ORPHA:44890
HP:0000707	Abnormality of the nervous system	5156	PDGFRA	ORPHA:44890
HP:0000707	Abnormality of the nervous system	3815	KIT	ORPHA:44890
HP:0000707	Abnormality of the nervous system	3815	KIT	OMIM:606764
HP:0000707	Abnormality of the nervous system	1984	EIF5A	OMIM:619376
HP:0000707	Abnormality of the nervous system	10273	STUB1	ORPHA:412057
HP:0000707	Abnormality of the nervous system	10273	STUB1	OMIM:618093
HP:0000707	Abnormality of the nervous system	7415	VCP	OMIM:613954
HP:0000707	Abnormality of the nervous system	7415	VCP	ORPHA:275872
HP:0000707	Abnormality of the nervous system	79651	RHBDF2	ORPHA:2198
HP:0000707	Abnormality of the nervous system	138050	HGSNAT	OMIM:252930
HP:0000707	Abnormality of the nervous system	84081	NSRP1	OMIM:620001
HP:0000707	Abnormality of the nervous system	5216	PFN1	OMIM:614808
HP:0000707	Abnormality of the nervous system	1678	TIMM8A	ORPHA:52368
HP:0000707	Abnormality of the nervous system	1678	TIMM8A	OMIM:304700
HP:0000707	Abnormality of the nervous system	4914	NTRK1	ORPHA:642
HP:0000707	Abnormality of the nervous system	64432	MRPS25	OMIM:619025
HP:0000707	Abnormality of the nervous system	84842	HPDL	OMIM:619027
HP:0000707	Abnormality of the nervous system	2747	GLUD2	OMIM:168600
HP:0000707	Abnormality of the nervous system	126	ADH1C	OMIM:168600
HP:0000707	Abnormality of the nervous system	6908	TBP	OMIM:168600
HP:0000707	Abnormality of the nervous system	6908	TBP	OMIM:607136
HP:0000707	Abnormality of the nervous system	4576	MT-TT	OMIM:168600
HP:0000707	Abnormality of the nervous system	9627	SNCAIP	OMIM:168600
HP:0000707	Abnormality of the nervous system	6311	ATXN2	OMIM:168600
HP:0000707	Abnormality of the nervous system	6311	ATXN2	OMIM:183090
HP:0000707	Abnormality of the nervous system	4771	NF2	ORPHA:637
HP:0000707	Abnormality of the nervous system	6622	SNCA	OMIM:168601
HP:0000707	Abnormality of the nervous system	6622	SNCA	ORPHA:171695
HP:0000707	Abnormality of the nervous system	6622	SNCA	ORPHA:411602
HP:0000707	Abnormality of the nervous system	5605	MAP2K2	ORPHA:638
HP:0000707	Abnormality of the nervous system	10128	LRPPRC	OMIM:220111
HP:0000707	Abnormality of the nervous system	10128	LRPPRC	ORPHA:70472
HP:0000707	Abnormality of the nervous system	80308	FLAD1	OMIM:255100
HP:0000707	Abnormality of the nervous system	775	CACNA1C	OMIM:620029
HP:0000707	Abnormality of the nervous system	8878	SQSTM1	ORPHA:275872
HP:0000707	Abnormality of the nervous system	8878	SQSTM1	OMIM:616437
HP:0000707	Abnormality of the nervous system	23435	TARDBP	ORPHA:275872
HP:0000707	Abnormality of the nervous system	23435	TARDBP	OMIM:612069
HP:0000707	Abnormality of the nervous system	29110	TBK1	ORPHA:275872
HP:0000707	Abnormality of the nervous system	29110	TBK1	OMIM:616439
HP:0000707	Abnormality of the nervous system	5111	PCNA	OMIM:615919
HP:0000707	Abnormality of the nervous system	4758	NEU1	ORPHA:93399
HP:0000707	Abnormality of the nervous system	79581	SLC52A2	OMIM:614707
HP:0000707	Abnormality of the nervous system	4281	MID1	OMIM:300000
HP:0000707	Abnormality of the nervous system	4281	MID1	ORPHA:2745
HP:0000707	Abnormality of the nervous system	131377	KLHL40	ORPHA:171430
HP:0000707	Abnormality of the nervous system	131377	KLHL40	OMIM:615348
HP:0000707	Abnormality of the nervous system	56203	LMOD3	ORPHA:171430
HP:0000707	Abnormality of the nervous system	271	AMPD2	OMIM:615809
HP:0000707	Abnormality of the nervous system	3119	HLA-DQB1	ORPHA:930
HP:0000707	Abnormality of the nervous system	9244	CRLF1	ORPHA:930
HP:0000707	Abnormality of the nervous system	3117	HLA-DQA1	ORPHA:930
HP:0000707	Abnormality of the nervous system	4842	NOS1	ORPHA:930
HP:0000707	Abnormality of the nervous system	7298	TYMS	OMIM:620040
HP:0000707	Abnormality of the nervous system	2483	FRG1	OMIM:158900
HP:0000707	Abnormality of the nervous system	64207	IRF2BPL	OMIM:618088
HP:0000707	Abnormality of the nervous system	146862	UNC45B	OMIM:619178
HP:0000707	Abnormality of the nervous system	5119	CHMP1A	OMIM:614961
HP:0000707	Abnormality of the nervous system	23522	KAT6B	OMIM:606170
HP:0000707	Abnormality of the nervous system	29967	LRP12	OMIM:164310
HP:0000707	Abnormality of the nervous system	9570	GOSR2	OMIM:620166
HP:0000707	Abnormality of the nervous system	2332	FMR1	ORPHA:93256
HP:0000707	Abnormality of the nervous system	7466	WFS1	OMIM:222300
HP:0000707	Abnormality of the nervous system	9839	ZEB2	ORPHA:261552
HP:0000707	Abnormality of the nervous system	9839	ZEB2	ORPHA:261537
HP:0000707	Abnormality of the nervous system	57190	SELENON	ORPHA:2020
HP:0000707	Abnormality of the nervous system	4633	MYL2	ORPHA:2020
HP:0000707	Abnormality of the nervous system	3679	ITGA7	ORPHA:2020
HP:0000707	Abnormality of the nervous system	9200	HACD1	ORPHA:2020
HP:0000707	Abnormality of the nervous system	51776	MAP3K20	ORPHA:2020
HP:0000707	Abnormality of the nervous system	7156	TOP3A	OMIM:618098
HP:0000707	Abnormality of the nervous system	1641	DCX	ORPHA:2148
HP:0000707	Abnormality of the nervous system	60	ACTB	OMIM:607371
HP:0000707	Abnormality of the nervous system	60	ACTB	ORPHA:79107
HP:0000707	Abnormality of the nervous system	55636	CHD7	OMIM:214800
HP:0000707	Abnormality of the nervous system	113278	SLC52A3	OMIM:211530
HP:0000707	Abnormality of the nervous system	113278	SLC52A3	OMIM:211500
HP:0000707	Abnormality of the nervous system	2395	FXN	ORPHA:95
HP:0000707	Abnormality of the nervous system	3211	HOXB1	OMIM:614744
HP:0000707	Abnormality of the nervous system	146057	TTBK2	ORPHA:98767
HP:0000707	Abnormality of the nervous system	3748	KCNC3	ORPHA:98768
HP:0000707	Abnormality of the nervous system	9289	ADGRG1	ORPHA:98889
HP:0000707	Abnormality of the nervous system	5297	PI4KA	ORPHA:98889
HP:0000707	Abnormality of the nervous system	5297	PI4KA	OMIM:619708
HP:0000707	Abnormality of the nervous system	27286	SRPX2	ORPHA:98889
HP:0000707	Abnormality of the nervous system	80704	SLC19A3	OMIM:607483
HP:0000707	Abnormality of the nervous system	80025	PANK2	OMIM:234200
HP:0000707	Abnormality of the nervous system	80025	PANK2	OMIM:607236
HP:0000707	Abnormality of the nervous system	80025	PANK2	ORPHA:216873
HP:0000707	Abnormality of the nervous system	80025	PANK2	ORPHA:216866
HP:0000707	Abnormality of the nervous system	92667	MGME1	ORPHA:352447
HP:0000707	Abnormality of the nervous system	6558	SLC12A2	OMIM:619083
HP:0000707	Abnormality of the nervous system	492	ATP2B3	OMIM:302500
HP:0000707	Abnormality of the nervous system	3251	HPRT1	OMIM:300322
HP:0000707	Abnormality of the nervous system	3208	HPCA	OMIM:224500
HP:0000707	Abnormality of the nervous system	9440	MED17	OMIM:613668
HP:0000707	Abnormality of the nervous system	2263	FGFR2	ORPHA:2363
HP:0000707	Abnormality of the nervous system	2261	FGFR3	ORPHA:2363
HP:0000707	Abnormality of the nervous system	2255	FGF10	ORPHA:2363
HP:0000707	Abnormality of the nervous system	8106	PABPN1	OMIM:164300
HP:0000707	Abnormality of the nervous system	8314	BAP1	ORPHA:50251
HP:0000707	Abnormality of the nervous system	10133	OPTN	OMIM:613435
HP:0000707	Abnormality of the nervous system	50628	GEMIN4	OMIM:617913
HP:0000707	Abnormality of the nervous system	91574	MTRFR	OMIM:613559
HP:0000707	Abnormality of the nervous system	85021	REPS1	OMIM:617916
HP:0000707	Abnormality of the nervous system	3752	KCND3	OMIM:607346
HP:0000707	Abnormality of the nervous system	6509	SLC1A4	ORPHA:447997
HP:0000707	Abnormality of the nervous system	6314	ATXN7	ORPHA:94147
HP:0000707	Abnormality of the nervous system	6314	ATXN7	OMIM:164500
HP:0000707	Abnormality of the nervous system	2776	GNAQ	ORPHA:3205
HP:0000707	Abnormality of the nervous system	25793	FBXO7	ORPHA:171695
HP:0000707	Abnormality of the nervous system	51067	YARS2	OMIM:613561
HP:0000707	Abnormality of the nervous system	80199	FUZ	ORPHA:1136
HP:0000707	Abnormality of the nervous system	7407	VARS1	OMIM:617802
HP:0000707	Abnormality of the nervous system	284119	CAVIN1	OMIM:613327
HP:0000707	Abnormality of the nervous system	10382	TUBB4A	OMIM:128101
HP:0000707	Abnormality of the nervous system	10382	TUBB4A	ORPHA:98805
HP:0000707	Abnormality of the nervous system	23534	TNPO3	OMIM:608423
HP:0000707	Abnormality of the nervous system	1861	TOR1A	OMIM:128100
HP:0000707	Abnormality of the nervous system	54704	PDP1	OMIM:608782
HP:0000707	Abnormality of the nervous system	1288	COL4A6	ORPHA:1018
HP:0000707	Abnormality of the nervous system	1287	COL4A5	ORPHA:1018
HP:0000707	Abnormality of the nervous system	55906	ZC4H2	OMIM:301041
HP:0000707	Abnormality of the nervous system	2982	GUCY1A1	OMIM:615750
HP:0000707	Abnormality of the nervous system	29926	GMPPA	OMIM:615510
HP:0000707	Abnormality of the nervous system	23394	ADNP	OMIM:615873
HP:0000707	Abnormality of the nervous system	57704	GBA2	ORPHA:352641
HP:0000707	Abnormality of the nervous system	6328	SCN3A	OMIM:617938
HP:0000707	Abnormality of the nervous system	79587	CARS2	ORPHA:477774
HP:0000707	Abnormality of the nervous system	10157	AASS	ORPHA:2203
HP:0000707	Abnormality of the nervous system	2782	GNB1	OMIM:616973
HP:0000707	Abnormality of the nervous system	79644	SRD5A3	OMIM:612379
HP:0000707	Abnormality of the nervous system	3106	HLA-B	ORPHA:36426
HP:0000707	Abnormality of the nervous system	10320	IKZF1	ORPHA:36426
HP:0000707	Abnormality of the nervous system	27235	COQ2	OMIM:607426
HP:0000707	Abnormality of the nervous system	8867	SYNJ1	OMIM:615530
HP:0000707	Abnormality of the nervous system	2058	EPRS1	OMIM:617951
HP:0000707	Abnormality of the nervous system	23317	DNAJC13	ORPHA:411602
HP:0000707	Abnormality of the nervous system	1981	EIF4G1	ORPHA:411602
HP:0000707	Abnormality of the nervous system	55737	VPS35	ORPHA:411602
HP:0000707	Abnormality of the nervous system	120892	LRRK2	ORPHA:411602
HP:0000707	Abnormality of the nervous system	26058	GIGYF2	ORPHA:411602
HP:0000707	Abnormality of the nervous system	51008	ASCC1	OMIM:616867
HP:0000707	Abnormality of the nervous system	2917	GRM7	OMIM:618922
HP:0000707	Abnormality of the nervous system	9325	TRIP4	OMIM:616866
HP:0000707	Abnormality of the nervous system	311	ANXA11	OMIM:617839
HP:0000707	Abnormality of the nervous system	128989	TANGO2	ORPHA:480864
HP:0000707	Abnormality of the nervous system	3418	IDH2	ORPHA:163634
HP:0000707	Abnormality of the nervous system	3417	IDH1	ORPHA:163634
HP:0000707	Abnormality of the nervous system	59336	PRDM13	OMIM:619909
HP:0000707	Abnormality of the nervous system	538	ATP7A	ORPHA:198
HP:0000707	Abnormality of the nervous system	79784	MYH14	ORPHA:397744
HP:0000707	Abnormality of the nervous system	84617	TUBB6	OMIM:617732
HP:0000707	Abnormality of the nervous system	25915	NDUFAF3	ORPHA:70474
HP:0000707	Abnormality of the nervous system	4714	NDUFB8	ORPHA:70474
HP:0000707	Abnormality of the nervous system	4720	NDUFS2	ORPHA:70474
HP:0000707	Abnormality of the nervous system	9997	SCO2	ORPHA:70474
HP:0000707	Abnormality of the nervous system	6834	SURF1	ORPHA:70474
HP:0000707	Abnormality of the nervous system	23556	PIGN	ORPHA:280633
HP:0000707	Abnormality of the nervous system	122553	TRAPPC6B	OMIM:617862
HP:0000707	Abnormality of the nervous system	28957	MRPS28	OMIM:618958
HP:0000707	Abnormality of the nervous system	8292	COLQ	ORPHA:98915
HP:0000707	Abnormality of the nervous system	8292	COLQ	OMIM:603034
HP:0000707	Abnormality of the nervous system	3913	LAMB2	ORPHA:98915
HP:0000707	Abnormality of the nervous system	51	ACOX1	OMIM:264470
HP:0000707	Abnormality of the nervous system	51	ACOX1	OMIM:618960
HP:0000707	Abnormality of the nervous system	10577	NPC2	OMIM:607625
HP:0000707	Abnormality of the nervous system	6651	SON	ORPHA:500150
HP:0000707	Abnormality of the nervous system	22943	DKK1	ORPHA:268882
HP:0000707	Abnormality of the nervous system	8243	SMC1A	ORPHA:220386
HP:0000707	Abnormality of the nervous system	57731	SPTBN4	OMIM:617519
HP:0000707	Abnormality of the nervous system	4359	MPZ	OMIM:607736
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:300260
HP:0000707	Abnormality of the nervous system	4747	NEFL	OMIM:607734
HP:0000707	Abnormality of the nervous system	367	AR	OMIM:313200
HP:0000707	Abnormality of the nervous system	6647	SOD1	OMIM:105400
HP:0000707	Abnormality of the nervous system	5630	PRPH	OMIM:105400
HP:0000707	Abnormality of the nervous system	1639	DCTN1	OMIM:105400
HP:0000707	Abnormality of the nervous system	4744	NEFH	OMIM:105400
HP:0000707	Abnormality of the nervous system	199857	ALG14	OMIM:619036
HP:0000707	Abnormality of the nervous system	5393	EXOSC9	OMIM:618065
HP:0000707	Abnormality of the nervous system	51569	UFM1	OMIM:617899
HP:0000707	Abnormality of the nervous system	162	AP1B1	OMIM:242150
HP:0000707	Abnormality of the nervous system	9442	MED27	OMIM:619286
HP:0000707	Abnormality of the nervous system	9382	COG1	OMIM:611209
HP:0000707	Abnormality of the nervous system	79693	YRDC	OMIM:619609
HP:0000707	Abnormality of the nervous system	23250	ATP11A	OMIM:619851
HP:0000707	Abnormality of the nervous system	55037	PTCD3	OMIM:619057
HP:0000707	Abnormality of the nervous system	91869	RFT1	ORPHA:244310
HP:0000707	Abnormality of the nervous system	91869	RFT1	OMIM:612015
HP:0000707	Abnormality of the nervous system	8772	FADD	OMIM:613759
HP:0000707	Abnormality of the nervous system	8772	FADD	ORPHA:306550
HP:0000707	Abnormality of the nervous system	54675	CRLS1	OMIM:620167
HP:0000707	Abnormality of the nervous system	3737	KCNA2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	22906	TRAK1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2561	GABRB2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	7532	YWHAG	ORPHA:442835
HP:0000707	Abnormality of the nervous system	10659	CELF2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23334	SZT2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	284111	SLC13A5	ORPHA:442835
HP:0000707	Abnormality of the nervous system	25977	NECAP1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	22866	CNKSR2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	55152	DALRD3	ORPHA:442835
HP:0000707	Abnormality of the nervous system	26999	CYFIP2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	26999	CYFIP2	OMIM:618008
HP:0000707	Abnormality of the nervous system	4915	NTRK2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23097	CDK19	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23097	CDK19	OMIM:618916
HP:0000707	Abnormality of the nervous system	64801	ARV1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	5826	ABCD4	OMIM:614857
HP:0000707	Abnormality of the nervous system	51692	CPSF3	OMIM:619876
HP:0000707	Abnormality of the nervous system	10056	FARSB	OMIM:613658
HP:0000707	Abnormality of the nervous system	56052	ALG1	ORPHA:79327
HP:0000707	Abnormality of the nervous system	56052	ALG1	OMIM:608540
HP:0000707	Abnormality of the nervous system	10531	PITRM1	OMIM:619405
HP:0000707	Abnormality of the nervous system	256471	MFSD8	OMIM:610951
HP:0000707	Abnormality of the nervous system	55343	SLC35C1	ORPHA:99843
HP:0000707	Abnormality of the nervous system	23189	KANK1	OMIM:612900
HP:0000707	Abnormality of the nervous system	8813	DPM1	ORPHA:79322
HP:0000707	Abnormality of the nervous system	57017	COQ9	OMIM:614654
HP:0000707	Abnormality of the nervous system	9759	HDAC4	OMIM:619797
HP:0000707	Abnormality of the nervous system	7167	TPI1	OMIM:615512
HP:0000707	Abnormality of the nervous system	53616	ADAM22	OMIM:617933
HP:0000707	Abnormality of the nervous system	9526	MPDU1	OMIM:609180
HP:0000707	Abnormality of the nervous system	57520	HECW2	OMIM:617268
HP:0000707	Abnormality of the nervous system	112939	NACC1	ORPHA:500545
HP:0000707	Abnormality of the nervous system	112939	NACC1	OMIM:617393
HP:0000707	Abnormality of the nervous system	51010	EXOSC3	OMIM:614678
HP:0000707	Abnormality of the nervous system	54822	TRPM7	OMIM:105500
HP:0000707	Abnormality of the nervous system	5934	RBL2	OMIM:619690
HP:0000707	Abnormality of the nervous system	79709	COLGALT1	OMIM:618360
HP:0000707	Abnormality of the nervous system	6601	SMARCC2	OMIM:618362
HP:0000707	Abnormality of the nervous system	29940	DSE	OMIM:615539
HP:0000707	Abnormality of the nervous system	84896	ATAD1	OMIM:618011
HP:0000707	Abnormality of the nervous system	175	AGA	OMIM:208400
HP:0000707	Abnormality of the nervous system	4548	MTR	OMIM:250940
HP:0000707	Abnormality of the nervous system	57003	CCDC47	OMIM:618268
HP:0000707	Abnormality of the nervous system	51095	TRNT1	OMIM:616084
HP:0000707	Abnormality of the nervous system	11019	LIAS	OMIM:614462
HP:0000707	Abnormality of the nervous system	145173	B3GLCT	OMIM:261540
HP:0000707	Abnormality of the nervous system	23040	MYT1L	OMIM:616521
HP:0000707	Abnormality of the nervous system	3704	ITPA	OMIM:616647
HP:0000707	Abnormality of the nervous system	440138	ALG11	ORPHA:280071
HP:0000707	Abnormality of the nervous system	51715	RAB23	OMIM:201000
HP:0000707	Abnormality of the nervous system	91875	TTC5	OMIM:619244
HP:0000707	Abnormality of the nervous system	617	BCS1L	OMIM:124000
HP:0000707	Abnormality of the nervous system	10084	PQBP1	OMIM:309500
HP:0000707	Abnormality of the nervous system	54802	TRIT1	OMIM:617873
HP:0000707	Abnormality of the nervous system	26503	SLC17A5	OMIM:269920
HP:0000707	Abnormality of the nervous system	10274	STAG1	OMIM:617635
HP:0000707	Abnormality of the nervous system	1719	DHFR	OMIM:613839
HP:0000707	Abnormality of the nervous system	85378	TUBGCP6	OMIM:251270
HP:0000707	Abnormality of the nervous system	22868	FASTKD2	OMIM:618855
HP:0000707	Abnormality of the nervous system	114034	TOE1	ORPHA:284339
HP:0000707	Abnormality of the nervous system	10195	ALG3	ORPHA:79321
HP:0000707	Abnormality of the nervous system	2138	EYA1	OMIM:113650
HP:0000707	Abnormality of the nervous system	6495	SIX1	OMIM:113650
HP:0000707	Abnormality of the nervous system	8367	H4C5	OMIM:619950
HP:0000707	Abnormality of the nervous system	2067	ERCC1	ORPHA:90322
HP:0000707	Abnormality of the nervous system	51501	HIKESHI	OMIM:616881
HP:0000707	Abnormality of the nervous system	79759	ZNF668	OMIM:620194
HP:0000707	Abnormality of the nervous system	1615	DARS1	OMIM:615281
HP:0000707	Abnormality of the nervous system	9338	TCEAL1	OMIM:301094
HP:0000707	Abnormality of the nervous system	4141	MARS1	ORPHA:401835
HP:0000707	Abnormality of the nervous system	51763	INPP5K	OMIM:617404
HP:0000707	Abnormality of the nervous system	80169	CTC1	OMIM:612199
HP:0000707	Abnormality of the nervous system	79944	L2HGDH	OMIM:236792
HP:0000707	Abnormality of the nervous system	8139	GAN	OMIM:256850
HP:0000707	Abnormality of the nervous system	324	APC	ORPHA:261584
HP:0000707	Abnormality of the nervous system	57156	TMEM63C	OMIM:619966
HP:0000707	Abnormality of the nervous system	118813	ZFYVE27	OMIM:610244
HP:0000707	Abnormality of the nervous system	25778	DSTYK	ORPHA:101003
HP:0000707	Abnormality of the nervous system	57599	WDR48	ORPHA:401800
HP:0000707	Abnormality of the nervous system	80821	DDHD1	ORPHA:101008
HP:0000707	Abnormality of the nervous system	340075	ARSI	ORPHA:401815
HP:0000707	Abnormality of the nervous system	57498	KIDINS220	OMIM:617296
HP:0000707	Abnormality of the nervous system	84879	MFSD2A	OMIM:616486
HP:0000707	Abnormality of the nervous system	2517	FUCA1	OMIM:230000
HP:0000707	Abnormality of the nervous system	22978	NT5C2	ORPHA:320396
HP:0000707	Abnormality of the nervous system	22978	NT5C2	OMIM:613162
HP:0000707	Abnormality of the nervous system	79971	WLS	OMIM:619648
HP:0000707	Abnormality of the nervous system	9101	USP8	ORPHA:401795
HP:0000707	Abnormality of the nervous system	3739	KCNA4	OMIM:618284
HP:0000707	Abnormality of the nervous system	3329	HSPD1	OMIM:605280
HP:0000707	Abnormality of the nervous system	3329	HSPD1	ORPHA:100994
HP:0000707	Abnormality of the nervous system	51663	ZFR	ORPHA:401840
HP:0000707	Abnormality of the nervous system	126129	CPT1C	ORPHA:444099
HP:0000707	Abnormality of the nervous system	51308	REEP2	ORPHA:401849
HP:0000707	Abnormality of the nervous system	51308	REEP2	OMIM:615625
HP:0000707	Abnormality of the nervous system	64374	SIL1	OMIM:248800
HP:0000707	Abnormality of the nervous system	23646	PLD3	OMIM:617770
HP:0000707	Abnormality of the nervous system	8309	ACOX2	OMIM:617308
HP:0000707	Abnormality of the nervous system	28960	DCPS	OMIM:616459
HP:0000707	Abnormality of the nervous system	55780	ERMARD	ORPHA:75857
HP:0000707	Abnormality of the nervous system	823	CAPN1	OMIM:616907
HP:0000707	Abnormality of the nervous system	823	CAPN1	ORPHA:488594
HP:0000707	Abnormality of the nervous system	9711	RUBCN	OMIM:615705
HP:0000707	Abnormality of the nervous system	9711	RUBCN	ORPHA:404499
HP:0000707	Abnormality of the nervous system	3475	IFRD1	ORPHA:98771
HP:0000707	Abnormality of the nervous system	1938	EEF2	OMIM:609306
HP:0000707	Abnormality of the nervous system	9922	IQSEC1	OMIM:618687
HP:0000707	Abnormality of the nervous system	57716	PRX	OMIM:614895
HP:0000707	Abnormality of the nervous system	9230	RAB11B	OMIM:617807
HP:0000707	Abnormality of the nervous system	57102	C12orf4	OMIM:618221
HP:0000707	Abnormality of the nervous system	79876	UBA5	OMIM:617133
HP:0000707	Abnormality of the nervous system	10765	KDM5B	OMIM:618109
HP:0000707	Abnormality of the nervous system	23102	TBC1D2B	OMIM:619323
HP:0000707	Abnormality of the nervous system	5994	RFXAP	ORPHA:572
HP:0000707	Abnormality of the nervous system	4261	CIITA	ORPHA:572
HP:0000707	Abnormality of the nervous system	5993	RFX5	ORPHA:572
HP:0000707	Abnormality of the nervous system	8625	RFXANK	ORPHA:572
HP:0000707	Abnormality of the nervous system	28982	FLVCR1	ORPHA:88628
HP:0000707	Abnormality of the nervous system	1181	CLCN2	OMIM:615651
HP:0000707	Abnormality of the nervous system	4125	MAN2B1	OMIM:248500
HP:0000707	Abnormality of the nervous system	54974	THG1L	OMIM:618800
HP:0000707	Abnormality of the nervous system	20	ABCA2	OMIM:618808
HP:0000707	Abnormality of the nervous system	372	ARCN1	OMIM:617164
HP:0000707	Abnormality of the nervous system	65260	COA7	OMIM:618387
HP:0000707	Abnormality of the nervous system	9516	LITAF	OMIM:601098
HP:0000707	Abnormality of the nervous system	5456	POU3F4	ORPHA:1435
HP:0000707	Abnormality of the nervous system	738	VPS51	OMIM:618606
HP:0000707	Abnormality of the nervous system	81615	TMEM163	OMIM:620243
HP:0000707	Abnormality of the nervous system	1795	DOCK3	OMIM:618292
HP:0000707	Abnormality of the nervous system	129285	PPP1R21	OMIM:619383
HP:0000707	Abnormality of the nervous system	221927	BRAT1	OMIM:618056
HP:0000707	Abnormality of the nervous system	2196	FAT2	OMIM:617769
HP:0000707	Abnormality of the nervous system	7384	UQCRC1	OMIM:619279
HP:0000707	Abnormality of the nervous system	56521	DNAJC12	OMIM:617384
HP:0000707	Abnormality of the nervous system	27102	EIF2AK1	OMIM:618878
HP:0000707	Abnormality of the nervous system	84833	ATP5MK	OMIM:618683
HP:0000707	Abnormality of the nervous system	124454	EARS2	OMIM:614924
HP:0000707	Abnormality of the nervous system	51142	CHCHD2	OMIM:616710
HP:0000707	Abnormality of the nervous system	401474	SAMD12	OMIM:601068
HP:0000707	Abnormality of the nervous system	2562	GABRB3	ORPHA:64280
HP:0000707	Abnormality of the nervous system	2562	GABRB3	ORPHA:2382
HP:0000707	Abnormality of the nervous system	2562	GABRB3	OMIM:617113
HP:0000707	Abnormality of the nervous system	8912	CACNA1H	ORPHA:64280
HP:0000707	Abnormality of the nervous system	8629	JRK	ORPHA:64280
HP:0000707	Abnormality of the nervous system	26960	NBEA	OMIM:619157
HP:0000707	Abnormality of the nervous system	81555	YIPF5	OMIM:619278
HP:0000707	Abnormality of the nervous system	776	CACNA1D	OMIM:615474
HP:0000707	Abnormality of the nervous system	776	CACNA1D	ORPHA:369929
HP:0000707	Abnormality of the nervous system	23241	PACS2	OMIM:618067
HP:0000707	Abnormality of the nervous system	2904	GRIN2B	OMIM:613970
HP:0000707	Abnormality of the nervous system	2904	GRIN2B	OMIM:616139
HP:0000707	Abnormality of the nervous system	785	CACNB4	OMIM:613855
HP:0000707	Abnormality of the nervous system	785	CACNB4	OMIM:607682
HP:0000707	Abnormality of the nervous system	2997	GYS1	OMIM:611556
HP:0000707	Abnormality of the nervous system	55325	UFSP2	OMIM:620028
HP:0000707	Abnormality of the nervous system	501	ALDH7A1	OMIM:266100
HP:0000707	Abnormality of the nervous system	154881	KCTD7	ORPHA:263516
HP:0000707	Abnormality of the nervous system	24137	KIF4A	OMIM:300923
HP:0000707	Abnormality of the nervous system	55689	YEATS2	OMIM:615127
HP:0000707	Abnormality of the nervous system	54982	CLN6	OMIM:204300
HP:0000707	Abnormality of the nervous system	10565	ARFGEF1	OMIM:619964
HP:0000707	Abnormality of the nervous system	9915	ARNT2	OMIM:615926
HP:0000707	Abnormality of the nervous system	284403	WDR62	OMIM:604317
HP:0000707	Abnormality of the nervous system	4511	MT-TC	OMIM:540000
HP:0000707	Abnormality of the nervous system	64780	MICAL1	OMIM:600512
HP:0000707	Abnormality of the nervous system	9211	LGI1	OMIM:600512
HP:0000707	Abnormality of the nervous system	9211	LGI1	ORPHA:101046
HP:0000707	Abnormality of the nervous system	3899	AFF3	OMIM:619297
HP:0000707	Abnormality of the nervous system	535	ATP6V0A1	OMIM:619970
HP:0000707	Abnormality of the nervous system	815	CAMK2A	OMIM:617798
HP:0000707	Abnormality of the nervous system	1759	DNM1	OMIM:616346
HP:0000707	Abnormality of the nervous system	1759	DNM1	ORPHA:2382
HP:0000707	Abnormality of the nervous system	2770	GNAI1	OMIM:619854
HP:0000707	Abnormality of the nervous system	57531	HACE1	ORPHA:464282
HP:0000707	Abnormality of the nervous system	80856	LNPK	OMIM:618090
HP:0000707	Abnormality of the nervous system	10087	CERT1	OMIM:616351
HP:0000707	Abnormality of the nervous system	10715	CERS1	OMIM:616230
HP:0000707	Abnormality of the nervous system	5602	MAPK10	ORPHA:2382
HP:0000707	Abnormality of the nervous system	283987	HID1	OMIM:619983
HP:0000707	Abnormality of the nervous system	54872	PIGG	ORPHA:488635
HP:0000707	Abnormality of the nervous system	4338	MOCS2	OMIM:252160
HP:0000707	Abnormality of the nervous system	124512	METTL23	OMIM:615942
HP:0000707	Abnormality of the nervous system	9152	SLC6A5	OMIM:614618
HP:0000707	Abnormality of the nervous system	610	HCN2	OMIM:602477
HP:0000707	Abnormality of the nervous system	3192	HNRNPU	ORPHA:238769
HP:0000707	Abnormality of the nervous system	3192	HNRNPU	OMIM:617391
HP:0000707	Abnormality of the nervous system	84138	SLC7A6OS	OMIM:619191
HP:0000707	Abnormality of the nervous system	9895	TECPR2	OMIM:615031
HP:0000707	Abnormality of the nervous system	1182	CLCN3	OMIM:619512
HP:0000707	Abnormality of the nervous system	51604	PIGT	OMIM:615398
HP:0000707	Abnormality of the nervous system	51604	PIGT	ORPHA:369837
HP:0000707	Abnormality of the nervous system	9354	UBE4A	OMIM:619639
HP:0000707	Abnormality of the nervous system	116115	ZNF526	OMIM:619877
HP:0000707	Abnormality of the nervous system	8021	NUP214	OMIM:618426
HP:0000707	Abnormality of the nervous system	6134	RPL10	ORPHA:459070
HP:0000707	Abnormality of the nervous system	83475	DOHH	OMIM:620066
HP:0000707	Abnormality of the nervous system	51611	DPH5	OMIM:620070
HP:0000707	Abnormality of the nervous system	728294	D2HGDH	OMIM:600721
HP:0000707	Abnormality of the nervous system	8733	GPAA1	ORPHA:529665
HP:0000707	Abnormality of the nervous system	8733	GPAA1	OMIM:617810
HP:0000707	Abnormality of the nervous system	10991	SLC38A3	OMIM:619881
HP:0000707	Abnormality of the nervous system	163175	LGI4	OMIM:617468
HP:0000707	Abnormality of the nervous system	6506	SLC1A2	OMIM:617105
HP:0000707	Abnormality of the nervous system	9772	TMEM94	OMIM:618316
HP:0000707	Abnormality of the nervous system	34	ACADM	ORPHA:42
HP:0000707	Abnormality of the nervous system	8218	CLTCL1	ORPHA:453510
HP:0000707	Abnormality of the nervous system	2146	EZH2	OMIM:277590
HP:0000707	Abnormality of the nervous system	114327	EFHC1	ORPHA:1941
HP:0000707	Abnormality of the nervous system	114327	EFHC1	OMIM:254770
HP:0000707	Abnormality of the nervous system	2742	GLRA2	OMIM:301076
HP:0000707	Abnormality of the nervous system	80331	DNAJC5	OMIM:162350
HP:0000707	Abnormality of the nervous system	51645	PPIL1	OMIM:619301
HP:0000707	Abnormality of the nervous system	51362	CDC40	OMIM:619302
HP:0000707	Abnormality of the nervous system	2702	GJA5	OMIM:612474
HP:0000707	Abnormality of the nervous system	2703	GJA8	OMIM:612474
HP:0000707	Abnormality of the nervous system	10243	GPHN	OMIM:615501
HP:0000707	Abnormality of the nervous system	22858	CILK1	OMIM:617924
HP:0000707	Abnormality of the nervous system	81603	TRIM8	OMIM:619428
HP:0000707	Abnormality of the nervous system	81603	TRIM8	ORPHA:1934
HP:0000707	Abnormality of the nervous system	57094	CPA6	OMIM:614417
HP:0000707	Abnormality of the nervous system	57094	CPA6	OMIM:614418
HP:0000707	Abnormality of the nervous system	3736	KCNA1	ORPHA:1934
HP:0000707	Abnormality of the nervous system	9091	PIGQ	ORPHA:1934
HP:0000707	Abnormality of the nervous system	8573	CASK	ORPHA:1934
HP:0000707	Abnormality of the nervous system	23312	DMXL2	ORPHA:1934
HP:0000707	Abnormality of the nervous system	51227	PIGP	ORPHA:1934
HP:0000707	Abnormality of the nervous system	84706	GPT2	OMIM:616281
HP:0000707	Abnormality of the nervous system	11133	KPTN	OMIM:615637
HP:0000707	Abnormality of the nervous system	4967	OGDH	OMIM:203740
HP:0000707	Abnormality of the nervous system	51807	TUBA8	ORPHA:250972
HP:0000707	Abnormality of the nervous system	3786	KCNQ3	ORPHA:306
HP:0000707	Abnormality of the nervous system	3786	KCNQ3	OMIM:121201
HP:0000707	Abnormality of the nervous system	546	ATRX	OMIM:301040
HP:0000707	Abnormality of the nervous system	2258	FGF13	OMIM:301058
HP:0000707	Abnormality of the nervous system	51412	ACTL6B	OMIM:618470
HP:0000707	Abnormality of the nervous system	5515	PPP2CA	OMIM:618354
HP:0000707	Abnormality of the nervous system	6096	RORB	OMIM:618357
HP:0000707	Abnormality of the nervous system	3745	KCNB1	OMIM:616056
HP:0000707	Abnormality of the nervous system	6900	CNTN2	OMIM:615400
HP:0000707	Abnormality of the nervous system	50	ACO2	OMIM:614559
HP:0000707	Abnormality of the nervous system	6301	SARS1	OMIM:617709
HP:0000707	Abnormality of the nervous system	3767	KCNJ11	ORPHA:99885
HP:0000707	Abnormality of the nervous system	3767	KCNJ11	OMIM:618856
HP:0000707	Abnormality of the nervous system	6774	STAT3	ORPHA:99885
HP:0000707	Abnormality of the nervous system	2645	GCK	ORPHA:99885
HP:0000707	Abnormality of the nervous system	3651	PDX1	ORPHA:99885
HP:0000707	Abnormality of the nervous system	6833	ABCC8	ORPHA:99885
HP:0000707	Abnormality of the nervous system	3630	INS	ORPHA:99885
HP:0000707	Abnormality of the nervous system	2891	GRIA2	OMIM:618917
HP:0000707	Abnormality of the nervous system	79641	ROGDI	OMIM:226750
HP:0000707	Abnormality of the nervous system	513	ATP5F1D	OMIM:618120
HP:0000707	Abnormality of the nervous system	3746	KCNC1	OMIM:616187
HP:0000707	Abnormality of the nervous system	5530	PPP3CA	OMIM:617711
HP:0000707	Abnormality of the nervous system	116150	NUS1	OMIM:617831
HP:0000707	Abnormality of the nervous system	116150	NUS1	OMIM:617082
HP:0000707	Abnormality of the nervous system	51741	WWOX	OMIM:614322
HP:0000707	Abnormality of the nervous system	79947	DHDDS	OMIM:617836
HP:0000707	Abnormality of the nervous system	686	BTD	ORPHA:79241
HP:0000707	Abnormality of the nervous system	51608	GET4	OMIM:620200
HP:0000707	Abnormality of the nervous system	3431	SP110	ORPHA:79124
HP:0000707	Abnormality of the nervous system	2898	GRIK2	OMIM:619580
HP:0000707	Abnormality of the nervous system	23258	DENND5A	OMIM:617281
HP:0000707	Abnormality of the nervous system	135	ADORA2A	ORPHA:363549
HP:0000707	Abnormality of the nervous system	208	AKT2	OMIM:240900
HP:0000707	Abnormality of the nervous system	5723	PSPH	ORPHA:79350
HP:0000707	Abnormality of the nervous system	10771	ZMYND11	OMIM:616083
HP:0000707	Abnormality of the nervous system	8943	AP3D1	OMIM:617050
HP:0000707	Abnormality of the nervous system	37	ACADVL	OMIM:201475
HP:0000707	Abnormality of the nervous system	5281	PIGF	OMIM:619356
HP:0000707	Abnormality of the nervous system	3747	KCNC2	OMIM:619913
HP:0000707	Abnormality of the nervous system	80036	TRPM3	OMIM:620224
HP:0000707	Abnormality of the nervous system	1917	EEF1A2	OMIM:616409
HP:0000707	Abnormality of the nervous system	378884	NHLRC1	ORPHA:501
HP:0000707	Abnormality of the nervous system	378884	NHLRC1	OMIM:254780
HP:0000707	Abnormality of the nervous system	7957	EPM2A	ORPHA:501
HP:0000707	Abnormality of the nervous system	7957	EPM2A	OMIM:254780
HP:0000707	Abnormality of the nervous system	51124	IER3IP1	OMIM:614231
HP:0000707	Abnormality of the nervous system	23067	SETD1B	OMIM:619000
HP:0000707	Abnormality of the nervous system	10319	LAMC3	OMIM:614115
HP:0000707	Abnormality of the nervous system	55704	CCDC88A	OMIM:617507
HP:0000707	Abnormality of the nervous system	9739	SETD1A	OMIM:618832
HP:0000707	Abnormality of the nervous system	84823	LMNB2	OMIM:616540
HP:0000707	Abnormality of the nervous system	1284	COL4A2	OMIM:614483
HP:0000707	Abnormality of the nervous system	8738	CRADD	OMIM:614499
HP:0000707	Abnormality of the nervous system	55367	PIDD1	OMIM:619827
HP:0000707	Abnormality of the nervous system	8449	DHX16	OMIM:618733
HP:0000707	Abnormality of the nervous system	55753	OGDHL	OMIM:619701
HP:0000707	Abnormality of the nervous system	23236	PLCB1	OMIM:613722
HP:0000707	Abnormality of the nervous system	11342	RNF13	ORPHA:544503
HP:0000707	Abnormality of the nervous system	10299	MARCHF6	OMIM:613608
HP:0000707	Abnormality of the nervous system	7852	CXCR4	ORPHA:51636
HP:0000707	Abnormality of the nervous system	10463	SLC30A9	OMIM:617595
HP:0000707	Abnormality of the nervous system	5274	SERPINI1	OMIM:604218
HP:0000707	Abnormality of the nervous system	23769	FLRT1	ORPHA:320406
HP:0000707	Abnormality of the nervous system	23474	ETHE1	ORPHA:51188
HP:0000707	Abnormality of the nervous system	23474	ETHE1	OMIM:602473
HP:0000707	Abnormality of the nervous system	388962	BOLA3	OMIM:614299
HP:0000707	Abnormality of the nervous system	84947	SERAC1	OMIM:614739
HP:0000707	Abnormality of the nervous system	27089	UQCRQ	OMIM:615159
HP:0000707	Abnormality of the nervous system	6804	STX1A	ORPHA:904
HP:0000707	Abnormality of the nervous system	7461	CLIP2	ORPHA:904
HP:0000707	Abnormality of the nervous system	84277	DNAJC30	ORPHA:904
HP:0000707	Abnormality of the nervous system	8468	FKBP6	ORPHA:904
HP:0000707	Abnormality of the nervous system	5982	RFC2	ORPHA:904
HP:0000707	Abnormality of the nervous system	2969	GTF2I	ORPHA:904
HP:0000707	Abnormality of the nervous system	3984	LIMK1	ORPHA:904
HP:0000707	Abnormality of the nervous system	9569	GTF2IRD1	ORPHA:904
HP:0000707	Abnormality of the nervous system	155382	VPS37D	ORPHA:904
HP:0000707	Abnormality of the nervous system	155368	METTL27	ORPHA:904
HP:0000707	Abnormality of the nervous system	114049	BUD23	ORPHA:904
HP:0000707	Abnormality of the nervous system	7458	EIF4H	ORPHA:904
HP:0000707	Abnormality of the nervous system	84163	GTF2IRD2	ORPHA:904
HP:0000707	Abnormality of the nervous system	9275	BCL7B	ORPHA:904
HP:0000707	Abnormality of the nervous system	26608	TBL2	ORPHA:904
HP:0000707	Abnormality of the nervous system	653361	NCF1	ORPHA:904
HP:0000707	Abnormality of the nervous system	135886	TMEM270	ORPHA:904
HP:0000707	Abnormality of the nervous system	51085	MLXIPL	ORPHA:904
HP:0000707	Abnormality of the nervous system	9031	BAZ1B	ORPHA:904
HP:0000707	Abnormality of the nervous system	2006	ELN	ORPHA:904
HP:0000707	Abnormality of the nervous system	4286	MITF	ORPHA:618
HP:0000707	Abnormality of the nervous system	1019	CDK4	ORPHA:618
HP:0000707	Abnormality of the nervous system	4255	MGMT	ORPHA:618
HP:0000707	Abnormality of the nervous system	54386	TERF2IP	ORPHA:618
HP:0000707	Abnormality of the nervous system	4157	MC1R	ORPHA:618
HP:0000707	Abnormality of the nervous system	65057	ACD	ORPHA:618
HP:0000707	Abnormality of the nervous system	1029	CDKN2A	ORPHA:618
HP:0000707	Abnormality of the nervous system	25913	POT1	ORPHA:618
HP:0000707	Abnormality of the nervous system	1030	CDKN2B	ORPHA:618
HP:0000707	Abnormality of the nervous system	6567	SLC16A2	ORPHA:59
HP:0000707	Abnormality of the nervous system	80067	DCAF17	OMIM:241080
HP:0000707	Abnormality of the nervous system	5052	PRDX1	OMIM:277400
HP:0000707	Abnormality of the nervous system	5138	PDE2A	OMIM:619150
HP:0000707	Abnormality of the nervous system	5138	PDE2A	ORPHA:31709
HP:0000707	Abnormality of the nervous system	27183	VPS4A	OMIM:619273
HP:0000707	Abnormality of the nervous system	5309	PITX3	OMIM:610623
HP:0000707	Abnormality of the nervous system	54476	RNF216	OMIM:212840
HP:0000707	Abnormality of the nervous system	7128	TNFAIP3	OMIM:616744
HP:0000707	Abnormality of the nervous system	3054	HCFC1	OMIM:309541
HP:0000707	Abnormality of the nervous system	39	ACAT2	OMIM:614055
HP:0000707	Abnormality of the nervous system	51284	TLR7	OMIM:301080
HP:0000707	Abnormality of the nervous system	111	ADCY5	OMIM:606703
HP:0000707	Abnormality of the nervous system	111	ADCY5	ORPHA:324588
HP:0000707	Abnormality of the nervous system	7504	XK	OMIM:300842
HP:0000707	Abnormality of the nervous system	7358	UGDH	OMIM:618792
HP:0000707	Abnormality of the nervous system	2555	GABRA2	OMIM:618557
HP:0000707	Abnormality of the nervous system	55164	SHQ1	OMIM:619922
HP:0000707	Abnormality of the nervous system	29960	MRM2	OMIM:618567
HP:0000707	Abnormality of the nervous system	22907	DHX30	OMIM:617804
HP:0000707	Abnormality of the nervous system	5538	PPT1	OMIM:256730
HP:0000707	Abnormality of the nervous system	7274	TTPA	OMIM:277460
HP:0000707	Abnormality of the nervous system	7274	TTPA	ORPHA:96
HP:0000707	Abnormality of the nervous system	2678	GGT1	OMIM:231950
HP:0000707	Abnormality of the nervous system	7291	TWIST1	ORPHA:794
HP:0000707	Abnormality of the nervous system	94	ACVRL1	OMIM:600376
HP:0000707	Abnormality of the nervous system	94	ACVRL1	ORPHA:774
HP:0000707	Abnormality of the nervous system	4088	SMAD3	ORPHA:284984
HP:0000707	Abnormality of the nervous system	4088	SMAD3	OMIM:613795
HP:0000707	Abnormality of the nervous system	2811	GP1BA	ORPHA:274
HP:0000707	Abnormality of the nervous system	2815	GP9	ORPHA:274
HP:0000707	Abnormality of the nervous system	51816	ADA2	ORPHA:820
HP:0000707	Abnormality of the nervous system	4072	EPCAM	ORPHA:144
HP:0000707	Abnormality of the nervous system	4292	MLH1	ORPHA:144
HP:0000707	Abnormality of the nervous system	5395	PMS2	ORPHA:144
HP:0000707	Abnormality of the nervous system	27030	MLH3	ORPHA:144
HP:0000707	Abnormality of the nervous system	22909	FAN1	ORPHA:144
HP:0000707	Abnormality of the nervous system	7048	TGFBR2	ORPHA:144
HP:0000707	Abnormality of the nervous system	2956	MSH6	ORPHA:144
HP:0000707	Abnormality of the nervous system	5378	PMS1	ORPHA:144
HP:0000707	Abnormality of the nervous system	4436	MSH2	ORPHA:144
HP:0000707	Abnormality of the nervous system	64218	SEMA4A	ORPHA:440437
HP:0000707	Abnormality of the nervous system	657	BMPR1A	ORPHA:440437
HP:0000707	Abnormality of the nervous system	6224	RPS20	ORPHA:440437
HP:0000707	Abnormality of the nervous system	3350	HTR1A	OMIM:614674
HP:0000707	Abnormality of the nervous system	1289	COL5A1	OMIM:619329
HP:0000707	Abnormality of the nervous system	83550	GPR101	ORPHA:963
HP:0000707	Abnormality of the nervous system	92949	ADAMTSL1	ORPHA:521445
HP:0000707	Abnormality of the nervous system	65998	ZFTA	ORPHA:251636
HP:0000707	Abnormality of the nervous system	5970	RELA	ORPHA:251636
HP:0000707	Abnormality of the nervous system	5230	PGK1	ORPHA:713
HP:0000707	Abnormality of the nervous system	5230	PGK1	OMIM:300653
HP:0000707	Abnormality of the nervous system	80216	ALPK1	OMIM:614979
HP:0000707	Abnormality of the nervous system	8405	SPOP	OMIM:618829
HP:0000707	Abnormality of the nervous system	2624	GATA2	ORPHA:3226
HP:0000707	Abnormality of the nervous system	4598	MVK	ORPHA:343
HP:0000707	Abnormality of the nervous system	9508	ADAMTS3	OMIM:618154
HP:0000707	Abnormality of the nervous system	6786	STIM1	OMIM:185070
HP:0000707	Abnormality of the nervous system	2050	EPHB4	ORPHA:137667
HP:0000707	Abnormality of the nervous system	5921	RASA1	ORPHA:137667
HP:0000707	Abnormality of the nervous system	2658	GDF2	ORPHA:774
HP:0000707	Abnormality of the nervous system	4089	SMAD4	ORPHA:774
HP:0000707	Abnormality of the nervous system	1315	COPB1	OMIM:619255
HP:0000707	Abnormality of the nervous system	340024	SLC6A19	ORPHA:2116
HP:0000707	Abnormality of the nervous system	57393	CLTRN	ORPHA:2116
HP:0000707	Abnormality of the nervous system	3593	IL12B	ORPHA:3287
HP:0000707	Abnormality of the nervous system	6945	MLX	ORPHA:3287
HP:0000707	Abnormality of the nervous system	4693	NDP	ORPHA:649
HP:0000707	Abnormality of the nervous system	84978	FRMD5	OMIM:620094
HP:0000707	Abnormality of the nervous system	197322	ACSF3	ORPHA:289504
HP:0000707	Abnormality of the nervous system	10466	COG5	ORPHA:263487
HP:0000707	Abnormality of the nervous system	10466	COG5	OMIM:613612
HP:0000707	Abnormality of the nervous system	26275	HIBCH	ORPHA:88639
HP:0000707	Abnormality of the nervous system	26275	HIBCH	OMIM:250620
HP:0000707	Abnormality of the nervous system	55154	MSTO1	OMIM:617675
HP:0000707	Abnormality of the nervous system	51761	ATP8A2	OMIM:615268
HP:0000707	Abnormality of the nervous system	339983	NAT8L	OMIM:614063
HP:0000707	Abnormality of the nervous system	22983	MAST1	OMIM:618273
HP:0000707	Abnormality of the nervous system	9474	ATG5	OMIM:617584
HP:0000707	Abnormality of the nervous system	2137	EXTL3	ORPHA:508533
HP:0000707	Abnormality of the nervous system	29899	GPSM2	OMIM:604213
HP:0000707	Abnormality of the nervous system	8036	SHOC2	OMIM:607721
HP:0000707	Abnormality of the nervous system	10617	STAMBP	OMIM:614261
HP:0000707	Abnormality of the nervous system	104	ADARB1	OMIM:618862
HP:0000707	Abnormality of the nervous system	9853	RUSC2	OMIM:617773
HP:0000707	Abnormality of the nervous system	343450	KCNT2	OMIM:617771
HP:0000707	Abnormality of the nervous system	1947	EFNB1	ORPHA:1520
HP:0000707	Abnormality of the nervous system	1947	EFNB1	OMIM:304110
HP:0000707	Abnormality of the nervous system	7360	UGP2	OMIM:618744
HP:0000707	Abnormality of the nervous system	116931	MED12L	OMIM:618872
HP:0000707	Abnormality of the nervous system	80816	ASXL3	OMIM:615485
HP:0000707	Abnormality of the nervous system	166378	AFG2A	OMIM:616577
HP:0000707	Abnormality of the nervous system	375387	NRROS	OMIM:618875
HP:0000707	Abnormality of the nervous system	83696	TRAPPC9	OMIM:613192
HP:0000707	Abnormality of the nervous system	83696	TRAPPC9	ORPHA:352530
HP:0000707	Abnormality of the nervous system	6844	VAMP2	OMIM:618760
HP:0000707	Abnormality of the nervous system	1656	DDX6	OMIM:618653
HP:0000707	Abnormality of the nervous system	25930	PTPN23	OMIM:618890
HP:0000707	Abnormality of the nervous system	23327	NEDD4L	OMIM:617201
HP:0000707	Abnormality of the nervous system	57178	ZMIZ1	OMIM:618659
HP:0000707	Abnormality of the nervous system	8550	MAPKAPK5	OMIM:619869
HP:0000707	Abnormality of the nervous system	8642	DCHS1	OMIM:601390
HP:0000707	Abnormality of the nervous system	8642	DCHS1	ORPHA:314679
HP:0000707	Abnormality of the nervous system	8558	CDK10	OMIM:617694
HP:0000707	Abnormality of the nervous system	51633	OTUD6B	OMIM:617452
HP:0000707	Abnormality of the nervous system	7531	YWHAE	ORPHA:217385
HP:0000707	Abnormality of the nervous system	7531	YWHAE	ORPHA:531
HP:0000707	Abnormality of the nervous system	26137	ZBTB20	OMIM:259050
HP:0000707	Abnormality of the nervous system	3800	KIF5C	OMIM:615282
HP:0000707	Abnormality of the nervous system	253959	RALGAPA1	OMIM:618797
HP:0000707	Abnormality of the nervous system	51098	IFT52	OMIM:617102
HP:0000707	Abnormality of the nervous system	4849	CNOT3	OMIM:618672
HP:0000707	Abnormality of the nervous system	25973	PARS2	OMIM:618437
HP:0000707	Abnormality of the nervous system	79633	FAT4	ORPHA:314679
HP:0000707	Abnormality of the nervous system	79633	FAT4	OMIM:615546
HP:0000707	Abnormality of the nervous system	7841	MOGS	ORPHA:79330
HP:0000707	Abnormality of the nervous system	7841	MOGS	OMIM:606056
HP:0000707	Abnormality of the nervous system	4208	MEF2C	ORPHA:228384
HP:0000707	Abnormality of the nervous system	23162	MAPK8IP3	OMIM:618443
HP:0000707	Abnormality of the nervous system	374969	SVBP	OMIM:618569
HP:0000707	Abnormality of the nervous system	79053	ALG8	ORPHA:79325
HP:0000707	Abnormality of the nervous system	7040	TGFB1	OMIM:618213
HP:0000707	Abnormality of the nervous system	58497	PRUNE1	OMIM:617481
HP:0000707	Abnormality of the nervous system	5881	RAC3	OMIM:618577
HP:0000707	Abnormality of the nervous system	51013	EXOSC1	OMIM:619304
HP:0000707	Abnormality of the nervous system	55770	EXOC2	OMIM:619306
HP:0000707	Abnormality of the nervous system	9488	PIGB	OMIM:618580
HP:0000707	Abnormality of the nervous system	8506	CNTNAP1	OMIM:616286
HP:0000707	Abnormality of the nervous system	8506	CNTNAP1	OMIM:618186
HP:0000707	Abnormality of the nervous system	10564	ARFGEF2	OMIM:608097
HP:0000707	Abnormality of the nervous system	2671	GFER	ORPHA:330054
HP:0000707	Abnormality of the nervous system	56945	MRPS22	OMIM:611719
HP:0000707	Abnormality of the nervous system	128869	PIGU	OMIM:618590
HP:0000707	Abnormality of the nervous system	1349	COX7B	OMIM:300887
HP:0000707	Abnormality of the nervous system	55610	VPS50	OMIM:619685
HP:0000707	Abnormality of the nervous system	55262	TRAPPC14	OMIM:618351
HP:0000707	Abnormality of the nervous system	1654	DDX3X	ORPHA:457260
HP:0000707	Abnormality of the nervous system	1654	DDX3X	OMIM:300958
HP:0000707	Abnormality of the nervous system	26128	KIFBP	ORPHA:66629
HP:0000707	Abnormality of the nervous system	26128	KIFBP	OMIM:609460
HP:0000707	Abnormality of the nervous system	4784	NFIX	OMIM:602535
HP:0000707	Abnormality of the nervous system	4784	NFIX	ORPHA:420179
HP:0000707	Abnormality of the nervous system	4784	NFIX	OMIM:614753
HP:0000707	Abnormality of the nervous system	22796	COG2	OMIM:617395
HP:0000707	Abnormality of the nervous system	22796	COG2	ORPHA:435934
HP:0000707	Abnormality of the nervous system	2560	GABRB1	OMIM:617153
HP:0000707	Abnormality of the nervous system	23221	RHOBTB2	OMIM:618004
HP:0000707	Abnormality of the nervous system	8120	AP3B2	OMIM:617276
HP:0000707	Abnormality of the nervous system	7965	AIMP2	OMIM:618006
HP:0000707	Abnormality of the nervous system	7703	PCGF2	OMIM:618371
HP:0000707	Abnormality of the nervous system	1781	DYNC1I2	OMIM:618492
HP:0000707	Abnormality of the nervous system	29968	PSAT1	ORPHA:284417
HP:0000707	Abnormality of the nervous system	191	AHCY	ORPHA:88618
HP:0000707	Abnormality of the nervous system	7161	TP73	OMIM:619466
HP:0000707	Abnormality of the nervous system	9758	FRMPD4	OMIM:300983
HP:0000707	Abnormality of the nervous system	8883	NAE1	OMIM:620210
HP:0000707	Abnormality of the nervous system	80185	TTI2	ORPHA:391307
HP:0000707	Abnormality of the nervous system	11340	EXOSC8	OMIM:616081
HP:0000707	Abnormality of the nervous system	84265	POLR3GL	OMIM:619234
HP:0000707	Abnormality of the nervous system	348180	CTU2	OMIM:618142
HP:0000707	Abnormality of the nervous system	51360	MBTPS2	OMIM:308205
HP:0000707	Abnormality of the nervous system	2222	FDFT1	OMIM:618156
HP:0000707	Abnormality of the nervous system	285590	SH3PXD2B	OMIM:249420
HP:0000707	Abnormality of the nervous system	8239	USP9X	OMIM:300968
HP:0000707	Abnormality of the nervous system	8239	USP9X	ORPHA:480880
HP:0000707	Abnormality of the nervous system	9326	ZNHIT3	OMIM:260565
HP:0000707	Abnormality of the nervous system	118924	FRA10AC1	OMIM:620113
HP:0000707	Abnormality of the nervous system	8911	CACNA1I	OMIM:620114
HP:0000707	Abnormality of the nervous system	3090	HIC1	ORPHA:531
HP:0000707	Abnormality of the nervous system	6748	SSR4	ORPHA:370927
HP:0000707	Abnormality of the nervous system	6748	SSR4	OMIM:300934
HP:0000707	Abnormality of the nervous system	54187	NANS	OMIM:610442
HP:0000707	Abnormality of the nervous system	84153	RNASEH2C	OMIM:610329
HP:0000707	Abnormality of the nervous system	84153	RNASEH2C	ORPHA:51
HP:0000707	Abnormality of the nervous system	1496	CTNNA2	OMIM:618174
HP:0000707	Abnormality of the nervous system	27445	PCLO	OMIM:608027
HP:0000707	Abnormality of the nervous system	3480	IGF1R	OMIM:270450
HP:0000707	Abnormality of the nervous system	10682	EBP	ORPHA:401973
HP:0000707	Abnormality of the nervous system	6095	RORA	OMIM:618060
HP:0000707	Abnormality of the nervous system	11113	CIT	OMIM:617090
HP:0000707	Abnormality of the nervous system	6535	SLC6A8	OMIM:300352
HP:0000707	Abnormality of the nervous system	7355	SLC35A2	ORPHA:356961
HP:0000707	Abnormality of the nervous system	7355	SLC35A2	OMIM:300896
HP:0000707	Abnormality of the nervous system	781	CACNA2D1	OMIM:620149
HP:0000707	Abnormality of the nervous system	57176	VARS2	OMIM:615917
HP:0000707	Abnormality of the nervous system	89910	UBE3B	OMIM:244450
HP:0000707	Abnormality of the nervous system	26153	KIF26A	OMIM:620156
HP:0000707	Abnormality of the nervous system	1717	DHCR7	OMIM:270400
HP:0000707	Abnormality of the nervous system	2752	GLUL	OMIM:610015
HP:0000707	Abnormality of the nervous system	54496	PRMT7	ORPHA:464288
HP:0000707	Abnormality of the nervous system	23265	EXOC7	OMIM:619072
HP:0000707	Abnormality of the nervous system	9653	HS2ST1	OMIM:619194
HP:0000707	Abnormality of the nervous system	1798	DPAGT1	ORPHA:86309
HP:0000707	Abnormality of the nervous system	1267	CNP	OMIM:619071
HP:0000707	Abnormality of the nervous system	79753	SNIP1	OMIM:614501
HP:0000707	Abnormality of the nervous system	10236	HNRNPR	OMIM:620073
HP:0000707	Abnormality of the nervous system	4094	MAF	ORPHA:1272
HP:0000707	Abnormality of the nervous system	5591	PRKDC	OMIM:615966
HP:0000707	Abnormality of the nervous system	51244	CCDC174	OMIM:616816
HP:0000707	Abnormality of the nervous system	9276	COPB2	OMIM:617800
HP:0000707	Abnormality of the nervous system	10535	RNASEH2A	ORPHA:51
HP:0000707	Abnormality of the nervous system	79621	RNASEH2B	ORPHA:51
HP:0000707	Abnormality of the nervous system	100147744	RNU7-1	ORPHA:51
HP:0000707	Abnormality of the nervous system	134353	LSM11	ORPHA:51
HP:0000707	Abnormality of the nervous system	7490	WT1	OMIM:106210
HP:0000707	Abnormality of the nervous system	5080	PAX6	OMIM:106210
HP:0000707	Abnormality of the nervous system	10075	HUWE1	OMIM:309590
HP:0000707	Abnormality of the nervous system	91949	COG7	OMIM:608779
HP:0000707	Abnormality of the nervous system	2290	FOXG1	OMIM:613454
HP:0000707	Abnormality of the nervous system	55593	OTUD5	OMIM:301056
HP:0000707	Abnormality of the nervous system	6658	SOX3	ORPHA:67045
HP:0000707	Abnormality of the nervous system	113179	ADAT3	ORPHA:363528
HP:0000707	Abnormality of the nervous system	23291	FBXW11	OMIM:618914
HP:0000707	Abnormality of the nervous system	7280	TUBB2A	OMIM:615763
HP:0000707	Abnormality of the nervous system	3097	HIVEP2	OMIM:616977
HP:0000707	Abnormality of the nervous system	10982	MAPRE2	OMIM:616734
HP:0000707	Abnormality of the nervous system	5053	PAH	ORPHA:2209
HP:0000707	Abnormality of the nervous system	5925	RB1	ORPHA:1587
HP:0000707	Abnormality of the nervous system	23511	NUP188	OMIM:618804
HP:0000707	Abnormality of the nervous system	6709	SPTAN1	OMIM:613477
HP:0000707	Abnormality of the nervous system	57511	COG6	OMIM:614576
HP:0000707	Abnormality of the nervous system	23065	EMC1	OMIM:616875
HP:0000707	Abnormality of the nervous system	128637	TBC1D20	OMIM:615663
HP:0000707	Abnormality of the nervous system	9419	CRIPT	OMIM:615789
HP:0000707	Abnormality of the nervous system	7874	USP7	ORPHA:500055
HP:0000707	Abnormality of the nervous system	4337	MOCS1	OMIM:252150
HP:0000707	Abnormality of the nervous system	29957	SLC25A24	OMIM:612289
HP:0000707	Abnormality of the nervous system	4329	ALDH6A1	OMIM:614105
HP:0000707	Abnormality of the nervous system	54880	BCOR	OMIM:300166
HP:0000707	Abnormality of the nervous system	5162	PDHB	ORPHA:255138
HP:0000707	Abnormality of the nervous system	2893	GRIA4	OMIM:617864
HP:0000707	Abnormality of the nervous system	5296	PIK3R2	OMIM:603387
HP:0000707	Abnormality of the nervous system	4047	LSS	OMIM:618840
HP:0000707	Abnormality of the nervous system	440	ASNS	OMIM:615574
HP:0000707	Abnormality of the nervous system	2806	GOT2	OMIM:618721
HP:0000707	Abnormality of the nervous system	1468	SLC25A10	OMIM:618972
HP:0000707	Abnormality of the nervous system	5307	PITX1	OMIM:119800
HP:0000707	Abnormality of the nervous system	8884	SLC5A6	OMIM:618973
HP:0000707	Abnormality of the nervous system	55331	ACER3	OMIM:617762
HP:0000707	Abnormality of the nervous system	10844	TUBGCP2	OMIM:618737
HP:0000707	Abnormality of the nervous system	4858	NOVA2	OMIM:618859
HP:0000707	Abnormality of the nervous system	84148	KAT8	OMIM:618974
HP:0000707	Abnormality of the nervous system	58499	ZNF462	OMIM:618619
HP:0000707	Abnormality of the nervous system	9524	TECR	OMIM:614020
HP:0000707	Abnormality of the nervous system	124997	WDR81	OMIM:610185
HP:0000707	Abnormality of the nervous system	23600	AMACR	OMIM:614307
HP:0000707	Abnormality of the nervous system	144165	PRICKLE1	ORPHA:308
HP:0000707	Abnormality of the nervous system	1476	CSTB	ORPHA:308
HP:0000707	Abnormality of the nervous system	221496	LEMD2	OMIM:619322
HP:0000707	Abnormality of the nervous system	440193	CCDC88C	OMIM:616053
HP:0000707	Abnormality of the nervous system	440193	CCDC88C	ORPHA:423275
HP:0000707	Abnormality of the nervous system	23114	NFASC	OMIM:618356
HP:0000707	Abnormality of the nervous system	472	ATM	OMIM:208900
HP:0000707	Abnormality of the nervous system	10501	SEMA6B	OMIM:618876
HP:0000707	Abnormality of the nervous system	26011	TENM4	OMIM:616736
HP:0000707	Abnormality of the nervous system	3781	KCNN2	OMIM:619725
HP:0000707	Abnormality of the nervous system	343641	TGM6	OMIM:613908
HP:0000707	Abnormality of the nervous system	343641	TGM6	ORPHA:276193
HP:0000707	Abnormality of the nervous system	3766	KCNJ10	OMIM:612780
HP:0000707	Abnormality of the nervous system	91137	SLC25A46	OMIM:616505
HP:0000707	Abnormality of the nervous system	7080	NKX2-1	ORPHA:209905
HP:0000707	Abnormality of the nervous system	7276	TTR	OMIM:105210
HP:0000707	Abnormality of the nervous system	9445	ITM2B	OMIM:117300
HP:0000707	Abnormality of the nervous system	54968	TMEM70	OMIM:614052
HP:0000707	Abnormality of the nervous system	26090	ABHD12	OMIM:612674
HP:0000707	Abnormality of the nervous system	5373	PMM2	OMIM:212065
HP:0000707	Abnormality of the nervous system	50801	KCNK4	OMIM:618381
HP:0000707	Abnormality of the nervous system	9150	CTDP1	ORPHA:48431
HP:0000707	Abnormality of the nervous system	54499	TMCO1	OMIM:213980
HP:0000707	Abnormality of the nervous system	5293	PIK3CD	ORPHA:221139
HP:0000707	Abnormality of the nervous system	90417	KNSTRN	ORPHA:221139
HP:0000707	Abnormality of the nervous system	5521	PPP2R2B	ORPHA:98762
HP:0000707	Abnormality of the nervous system	54870	QRICH1	OMIM:617982
HP:0000707	Abnormality of the nervous system	81562	LMAN2L	OMIM:617863
HP:0000707	Abnormality of the nervous system	6785	ELOVL4	OMIM:133190
HP:0000707	Abnormality of the nervous system	55129	ANO10	ORPHA:284289
HP:0000707	Abnormality of the nervous system	55129	ANO10	OMIM:613728
HP:0000707	Abnormality of the nervous system	2937	GSS	OMIM:266130
HP:0000707	Abnormality of the nervous system	9725	TMEM63A	OMIM:618688
HP:0000707	Abnormality of the nervous system	404672	GTF2H5	ORPHA:33364
HP:0000707	Abnormality of the nervous system	833	CARS1	ORPHA:33364
HP:0000707	Abnormality of the nervous system	2068	ERCC2	ORPHA:33364
HP:0000707	Abnormality of the nervous system	7737	RNF113A	ORPHA:33364
HP:0000707	Abnormality of the nervous system	136647	MPLKIP	ORPHA:33364
HP:0000707	Abnormality of the nervous system	6897	TARS1	ORPHA:33364
HP:0000707	Abnormality of the nervous system	2071	ERCC3	ORPHA:33364
HP:0000707	Abnormality of the nervous system	2961	GTF2E2	ORPHA:33364
HP:0000707	Abnormality of the nervous system	200403	VWA3B	OMIM:616948
HP:0000707	Abnormality of the nervous system	1909	EDNRA	OMIM:157300
HP:0000707	Abnormality of the nervous system	2099	ESR1	OMIM:157300
HP:0000707	Abnormality of the nervous system	7124	TNF	OMIM:157300
HP:0000707	Abnormality of the nervous system	338567	KCNK18	OMIM:613656
HP:0000707	Abnormality of the nervous system	153241	CEP120	ORPHA:475
HP:0000707	Abnormality of the nervous system	153241	CEP120	ORPHA:220493
HP:0000707	Abnormality of the nervous system	153241	CEP120	OMIM:616300
HP:0000707	Abnormality of the nervous system	9731	CEP104	ORPHA:475
HP:0000707	Abnormality of the nervous system	219844	HYLS1	ORPHA:475
HP:0000707	Abnormality of the nervous system	23247	KATNIP	ORPHA:475
HP:0000707	Abnormality of the nervous system	95681	CEP41	ORPHA:475
HP:0000707	Abnormality of the nervous system	95681	CEP41	ORPHA:220493
HP:0000707	Abnormality of the nervous system	10464	PIBF1	ORPHA:475
HP:0000707	Abnormality of the nervous system	80210	ARMC9	ORPHA:475
HP:0000707	Abnormality of the nervous system	23116	TOGARAM1	ORPHA:475
HP:0000707	Abnormality of the nervous system	25776	CBY1	ORPHA:475
HP:0000707	Abnormality of the nervous system	403	ARL3	ORPHA:475
HP:0000707	Abnormality of the nervous system	51524	TMEM138	OMIM:614465
HP:0000707	Abnormality of the nervous system	51524	TMEM138	ORPHA:2318
HP:0000707	Abnormality of the nervous system	57514	ARHGAP31	OMIM:100300
HP:0000707	Abnormality of the nervous system	57514	ARHGAP31	ORPHA:974
HP:0000707	Abnormality of the nervous system	84172	POLR1B	ORPHA:861
HP:0000707	Abnormality of the nervous system	9533	POLR1C	ORPHA:861
HP:0000707	Abnormality of the nervous system	51082	POLR1D	ORPHA:861
HP:0000707	Abnormality of the nervous system	6949	TCOF1	ORPHA:861
HP:0000707	Abnormality of the nervous system	4867	NPHP1	ORPHA:220497
HP:0000707	Abnormality of the nervous system	3516	RBPJ	ORPHA:974
HP:0000707	Abnormality of the nervous system	4851	NOTCH1	ORPHA:974
HP:0000707	Abnormality of the nervous system	57572	DOCK6	ORPHA:974
HP:0000707	Abnormality of the nervous system	285203	EOGT	ORPHA:974
HP:0000707	Abnormality of the nervous system	54567	DLL4	ORPHA:974
HP:0000707	Abnormality of the nervous system	23090	ZNF423	ORPHA:2318
HP:0000707	Abnormality of the nervous system	2317	FLNB	OMIM:108720
HP:0000707	Abnormality of the nervous system	3912	LAMB1	OMIM:615191
HP:0000707	Abnormality of the nervous system	3912	LAMB1	ORPHA:352682
HP:0000707	Abnormality of the nervous system	10992	SF3B2	OMIM:164210
HP:0000707	Abnormality of the nervous system	3239	HOXD13	ORPHA:887
HP:0000707	Abnormality of the nervous system	200894	ARL13B	OMIM:612291
HP:0000707	Abnormality of the nervous system	11041	B4GAT1	OMIM:615287
HP:0000707	Abnormality of the nervous system	219854	TMEM218	OMIM:619562
HP:0000707	Abnormality of the nervous system	56603	CYP26B1	OMIM:614416
HP:0000707	Abnormality of the nervous system	5062	PAK2	ORPHA:1571
HP:0000707	Abnormality of the nervous system	3008	H1-4	OMIM:617537
HP:0000707	Abnormality of the nervous system	131405	TRIM71	OMIM:618667
HP:0000707	Abnormality of the nervous system	2203	FBP1	ORPHA:348
HP:0000707	Abnormality of the nervous system	23729	SHPK	ORPHA:440713
HP:0000707	Abnormality of the nervous system	633	BGN	OMIM:300989
HP:0000707	Abnormality of the nervous system	57538	ALPK3	OMIM:618052
HP:0000707	Abnormality of the nervous system	83700	JAM3	OMIM:613730
HP:0000707	Abnormality of the nervous system	4591	TRIM37	OMIM:253250
HP:0000707	Abnormality of the nervous system	2615	LRRC32	OMIM:619074
HP:0000707	Abnormality of the nervous system	23483	TGDS	ORPHA:1388
HP:0000707	Abnormality of the nervous system	27152	INTU	OMIM:617926
HP:0000707	Abnormality of the nervous system	57674	RNF213	ORPHA:2573
HP:0000707	Abnormality of the nervous system	50943	FOXP3	OMIM:304790
HP:0000707	Abnormality of the nervous system	10943	MSL3	OMIM:301032
HP:0000707	Abnormality of the nervous system	8985	PLOD3	OMIM:612394
HP:0000707	Abnormality of the nervous system	2018	EMX2	OMIM:269160
HP:0000707	Abnormality of the nervous system	4582	MUC1	OMIM:174000
HP:0000707	Abnormality of the nervous system	4644	MYO5A	ORPHA:33445
HP:0000707	Abnormality of the nervous system	79955	PDZD7	ORPHA:231178
HP:0000707	Abnormality of the nervous system	4647	MYO7A	ORPHA:231178
HP:0000707	Abnormality of the nervous system	4647	MYO7A	ORPHA:231169
HP:0000707	Abnormality of the nervous system	25861	WHRN	ORPHA:231178
HP:0000707	Abnormality of the nervous system	10283	CWC27	ORPHA:166035
HP:0000707	Abnormality of the nervous system	60558	GUF1	OMIM:617065
HP:0000707	Abnormality of the nervous system	10083	USH1C	ORPHA:231169
HP:0000707	Abnormality of the nervous system	124590	USH1G	ORPHA:231169
HP:0000707	Abnormality of the nervous system	83715	ESPN	ORPHA:231169
HP:0000707	Abnormality of the nervous system	10518	CIB2	ORPHA:231169
HP:0000707	Abnormality of the nervous system	65217	PCDH15	ORPHA:231169
HP:0000707	Abnormality of the nervous system	23404	EXOSC2	OMIM:617763
HP:0000707	Abnormality of the nervous system	4791	NFKB2	ORPHA:293978
HP:0000707	Abnormality of the nervous system	1954	MEGF8	OMIM:614976
HP:0000707	Abnormality of the nervous system	2746	GLUD1	ORPHA:35878
HP:0000707	Abnormality of the nervous system	93183	PIGM	OMIM:610293
HP:0000707	Abnormality of the nervous system	4565	MT-TI	OMIM:545000
HP:0000707	Abnormality of the nervous system	6611	SMS	ORPHA:3063
HP:0000707	Abnormality of the nervous system	57061	HYMAI	ORPHA:96191
HP:0000707	Abnormality of the nervous system	5325	PLAGL1	ORPHA:96191
HP:0000707	Abnormality of the nervous system	1889	ECE1	OMIM:613870
HP:0000707	Abnormality of the nervous system	283209	PGM2L1	OMIM:620191
HP:0000707	Abnormality of the nervous system	8915	BCL10	OMIM:616098
HP:0000707	Abnormality of the nervous system	5625	PRODH	OMIM:239500
HP:0000707	Abnormality of the nervous system	7351	UCP2	ORPHA:276556
HP:0000707	Abnormality of the nervous system	9636	ISG15	OMIM:616126
HP:0000707	Abnormality of the nervous system	2625	GATA3	OMIM:146255
HP:0000707	Abnormality of the nervous system	90	ACVR1	OMIM:135100
HP:0000707	Abnormality of the nervous system	113235	SLC46A1	OMIM:229050
HP:0000707	Abnormality of the nervous system	5696	PSMB8	OMIM:256040
HP:0000707	Abnormality of the nervous system	7067	THRA	OMIM:614450
HP:0000707	Abnormality of the nervous system	8493	PPM1D	OMIM:617450
HP:0000707	Abnormality of the nervous system	1298	COL9A2	OMIM:600204
HP:0000707	Abnormality of the nervous system	6443	SGCB	ORPHA:119
HP:0000707	Abnormality of the nervous system	2159	F10	ORPHA:328
HP:0000707	Abnormality of the nervous system	81704	DOCK8	OMIM:243700
HP:0000707	Abnormality of the nervous system	3674	ITGA2B	ORPHA:853
HP:0000707	Abnormality of the nervous system	3673	ITGA2	ORPHA:853
HP:0000707	Abnormality of the nervous system	135228	CD109	ORPHA:853
HP:0000707	Abnormality of the nervous system	3690	ITGB3	ORPHA:853
HP:0000707	Abnormality of the nervous system	81031	SLC2A10	OMIM:208050
HP:0000707	Abnormality of the nervous system	79184	BRCC3	ORPHA:280679
HP:0000707	Abnormality of the nervous system	1108	CHD4	OMIM:617159
HP:0000707	Abnormality of the nervous system	79140	CCDC28B	OMIM:209900
HP:0000707	Abnormality of the nervous system	3110	MNX1	OMIM:176450
HP:0000707	Abnormality of the nervous system	7277	TUBA4A	OMIM:616208
HP:0000707	Abnormality of the nervous system	899	CCNF	OMIM:619141
HP:0000707	Abnormality of the nervous system	6916	TBXAS1	ORPHA:1802
HP:0000707	Abnormality of the nervous system	2312	FLG	ORPHA:461
HP:0000707	Abnormality of the nervous system	2155	F7	OMIM:227500
HP:0000707	Abnormality of the nervous system	2155	F7	ORPHA:327
HP:0000707	Abnormality of the nervous system	5345	SERPINF2	ORPHA:79
HP:0000707	Abnormality of the nervous system	5054	SERPINE1	ORPHA:465
HP:0000707	Abnormality of the nervous system	3998	LMAN1	ORPHA:35909
HP:0000707	Abnormality of the nervous system	90411	MCFD2	ORPHA:35909
HP:0000707	Abnormality of the nervous system	2162	F13A1	OMIM:613225
HP:0000707	Abnormality of the nervous system	2108	ETFA	OMIM:231680
HP:0000707	Abnormality of the nervous system	2109	ETFB	OMIM:231680
HP:0000707	Abnormality of the nervous system	2110	ETFDH	OMIM:231680
HP:0000707	Abnormality of the nervous system	3026	HABP2	ORPHA:319487
HP:0000707	Abnormality of the nervous system	567	B2M	ORPHA:314652
HP:0000707	Abnormality of the nervous system	91461	PKDCC	OMIM:618821
HP:0000707	Abnormality of the nervous system	29928	TIMM22	OMIM:618851
HP:0000707	Abnormality of the nervous system	8720	MBTPS1	OMIM:618392
HP:0000707	Abnormality of the nervous system	9247	GCM2	OMIM:618883
HP:0000707	Abnormality of the nervous system	9247	GCM2	ORPHA:2239
HP:0000707	Abnormality of the nervous system	4254	KITLG	ORPHA:895
HP:0000707	Abnormality of the nervous system	55679	LIMS2	OMIM:616827
HP:0000707	Abnormality of the nervous system	6427	SRSF2	ORPHA:98849
HP:0000707	Abnormality of the nervous system	9493	KIF23	ORPHA:98870
HP:0000707	Abnormality of the nervous system	29127	RACGAP1	ORPHA:98870
HP:0000707	Abnormality of the nervous system	1991	ELANE	ORPHA:2686
HP:0000707	Abnormality of the nervous system	9663	LPIN2	ORPHA:77297
HP:0000707	Abnormality of the nervous system	91662	NLRP12	OMIM:611762
HP:0000707	Abnormality of the nervous system	81788	NUAK2	OMIM:619452
HP:0000707	Abnormality of the nervous system	27316	RBMX	OMIM:300238
HP:0000707	Abnormality of the nervous system	10586	MAB21L2	OMIM:615877
HP:0000707	Abnormality of the nervous system	4883	NPR3	OMIM:619543
HP:0000707	Abnormality of the nervous system	5317	PKP1	ORPHA:158668
HP:0000707	Abnormality of the nervous system	125170	MIEF2	OMIM:619024
HP:0000707	Abnormality of the nervous system	10043	TOM1	ORPHA:391487
HP:0000707	Abnormality of the nervous system	8815	BANF1	OMIM:614008
HP:0000707	Abnormality of the nervous system	54344	DPM3	ORPHA:263494
HP:0000707	Abnormality of the nervous system	9750	RIPOR2	OMIM:616515
HP:0000707	Abnormality of the nervous system	91754	NEK9	ORPHA:64754
HP:0000707	Abnormality of the nervous system	11198	SUPT16H	OMIM:619480
HP:0000707	Abnormality of the nervous system	55521	TRIM36	OMIM:206500
HP:0000707	Abnormality of the nervous system	5091	PC	OMIM:266150
HP:0000707	Abnormality of the nervous system	81689	ISCA1	OMIM:617613
HP:0000707	Abnormality of the nervous system	122961	ISCA2	OMIM:616370
HP:0000707	Abnormality of the nervous system	1910	EDNRB	OMIM:277580
HP:0000707	Abnormality of the nervous system	7284	TUFM	OMIM:610678
HP:0000707	Abnormality of the nervous system	8789	FBP2	OMIM:619864
HP:0000707	Abnormality of the nervous system	4353	MPO	OMIM:104300
HP:0000707	Abnormality of the nervous system	4846	NOS3	OMIM:104300
HP:0000707	Abnormality of the nervous system	3077	HFE	OMIM:104300
HP:0000707	Abnormality of the nervous system	5328	PLAU	OMIM:104300
HP:0000707	Abnormality of the nervous system	134701	RIPPLY2	ORPHA:2311
HP:0000707	Abnormality of the nervous system	10683	DLL3	ORPHA:2311
HP:0000707	Abnormality of the nervous system	3955	LFNG	ORPHA:2311
HP:0000707	Abnormality of the nervous system	145873	MESP2	ORPHA:2311
HP:0000707	Abnormality of the nervous system	1312	COMT	ORPHA:567
HP:0000707	Abnormality of the nervous system	221037	JMJD1C	ORPHA:567
HP:0000707	Abnormality of the nervous system	2812	GP1BB	ORPHA:567
HP:0000707	Abnormality of the nervous system	6239	RREB1	ORPHA:567
HP:0000707	Abnormality of the nervous system	6899	TBX1	ORPHA:567
HP:0000707	Abnormality of the nervous system	7290	HIRA	ORPHA:567
HP:0000707	Abnormality of the nervous system	9632	SEC24C	ORPHA:567
HP:0000707	Abnormality of the nervous system	7353	UFD1	ORPHA:567
HP:0000707	Abnormality of the nervous system	421	ARVCF	ORPHA:567
HP:0000707	Abnormality of the nervous system	148789	B3GALNT2	ORPHA:588
HP:0000707	Abnormality of the nervous system	55624	POMGNT1	ORPHA:588
HP:0000707	Abnormality of the nervous system	80781	COL18A1	OMIM:267750
HP:0000707	Abnormality of the nervous system	7476	WNT7A	OMIM:276820
HP:0000707	Abnormality of the nervous system	4519	MT-CYB	ORPHA:137675
HP:0000707	Abnormality of the nervous system	1540	CYLD	OMIM:619132
HP:0000707	Abnormality of the nervous system	6736	SRY	ORPHA:1772
HP:0000707	Abnormality of the nervous system	203228	C9orf72	OMIM:105550
HP:0000707	Abnormality of the nervous system	4131	MAP1B	OMIM:618918
HP:0000707	Abnormality of the nervous system	29072	SETD2	ORPHA:821
HP:0000707	Abnormality of the nervous system	64601	VPS16	OMIM:619291
HP:0000707	Abnormality of the nervous system	4990	SIX6	OMIM:206900
HP:0000707	Abnormality of the nervous system	6657	SOX2	OMIM:206900
HP:0000707	Abnormality of the nervous system	65250	CPLANE1	OMIM:277170
HP:0000707	Abnormality of the nervous system	65250	CPLANE1	ORPHA:2754
HP:0000707	Abnormality of the nervous system	7074	TIAM1	OMIM:619908
HP:0000707	Abnormality of the nervous system	10210	TOPORS	ORPHA:2754
HP:0000707	Abnormality of the nervous system	9851	KIAA0753	ORPHA:2754
HP:0000707	Abnormality of the nervous system	5147	PDE6D	ORPHA:2754
HP:0000707	Abnormality of the nervous system	317662	FAM149B1	ORPHA:2754
HP:0000707	Abnormality of the nervous system	374654	KIF7	ORPHA:2754
HP:0000707	Abnormality of the nervous system	3845	KRAS	ORPHA:2396
HP:0000707	Abnormality of the nervous system	22845	DOLK	OMIM:610768
HP:0000707	Abnormality of the nervous system	2556	GABRA3	ORPHA:79102
HP:0000707	Abnormality of the nervous system	5551	PRF1	OMIM:603553
HP:0000707	Abnormality of the nervous system	56246	MRAP	ORPHA:361
HP:0000707	Abnormality of the nervous system	6770	STAR	ORPHA:361
HP:0000707	Abnormality of the nervous system	4158	MC2R	ORPHA:361
HP:0000707	Abnormality of the nervous system	23530	NNT	ORPHA:361
HP:0000707	Abnormality of the nervous system	10587	TXNRD2	ORPHA:361
HP:0000707	Abnormality of the nervous system	374354	NHLRC2	OMIM:618278
HP:0000707	Abnormality of the nervous system	51693	TRAPPC2L	OMIM:618331
HP:0000707	Abnormality of the nervous system	64135	IFIH1	OMIM:615846
HP:0000707	Abnormality of the nervous system	57582	KCNT1	OMIM:614959
HP:0000707	Abnormality of the nervous system	92335	STRADA	OMIM:611087
HP:0000707	Abnormality of the nervous system	8942	KYNU	ORPHA:79155
HP:0000707	Abnormality of the nervous system	132158	GLYCTK	ORPHA:941
HP:0000707	Abnormality of the nervous system	2774	GNAL	OMIM:615073
HP:0000707	Abnormality of the nervous system	2774	GNAL	ORPHA:329466
HP:0000707	Abnormality of the nervous system	58494	JAM2	OMIM:618824
HP:0000707	Abnormality of the nervous system	54832	VPS13C	OMIM:616840
HP:0000707	Abnormality of the nervous system	55145	THAP1	ORPHA:98806
HP:0000707	Abnormality of the nervous system	55145	THAP1	OMIM:602629
HP:0000707	Abnormality of the nervous system	347734	SLC35B2	OMIM:620269
HP:0000707	Abnormality of the nervous system	1282	COL4A1	OMIM:175780
HP:0000707	Abnormality of the nervous system	6571	SLC18A2	ORPHA:352649
HP:0000707	Abnormality of the nervous system	90522	YIF1B	OMIM:619125
HP:0000707	Abnormality of the nervous system	5610	EIF2AK2	OMIM:619687
HP:0000707	Abnormality of the nervous system	1293	COL6A3	OMIM:616411
HP:0000707	Abnormality of the nervous system	1293	COL6A3	ORPHA:464440
HP:0000707	Abnormality of the nervous system	16	AARS1	OMIM:616339
HP:0000707	Abnormality of the nervous system	128486	FITM2	OMIM:618635
HP:0000707	Abnormality of the nervous system	150468	CKAP2L	ORPHA:3255
HP:0000707	Abnormality of the nervous system	63982	ANO3	ORPHA:420485
HP:0000707	Abnormality of the nervous system	84504	NKX6-2	OMIM:617560
HP:0000707	Abnormality of the nervous system	1593	CYP27A1	ORPHA:909
HP:0000707	Abnormality of the nervous system	3785	KCNQ2	ORPHA:439218
HP:0000707	Abnormality of the nervous system	5430	POLR2A	OMIM:618603
HP:0000707	Abnormality of the nervous system	4594	MMUT	OMIM:251000
HP:0000707	Abnormality of the nervous system	113612	CYP2U1	ORPHA:320411
HP:0000707	Abnormality of the nervous system	55532	SLC30A10	ORPHA:309854
HP:0000707	Abnormality of the nervous system	83636	C19orf12	OMIM:614298
HP:0000707	Abnormality of the nervous system	318	NUDT2	OMIM:619844
HP:0000707	Abnormality of the nervous system	1161	ERCC8	ORPHA:90324
HP:0000707	Abnormality of the nervous system	2074	ERCC6	ORPHA:90324
HP:0000707	Abnormality of the nervous system	727676	SNORD118	ORPHA:542310
HP:0000707	Abnormality of the nervous system	6575	SLC20A2	OMIM:213600
HP:0000707	Abnormality of the nervous system	5159	PDGFRB	OMIM:213600
HP:0000707	Abnormality of the nervous system	1203	CLN5	ORPHA:228360
HP:0000707	Abnormality of the nervous system	3975	LHX1	ORPHA:261265
HP:0000707	Abnormality of the nervous system	6928	HNF1B	ORPHA:261265
HP:0000707	Abnormality of the nervous system	79853	TM4SF20	OMIM:615432
HP:0000707	Abnormality of the nervous system	6696	SPP1	ORPHA:93552
HP:0000707	Abnormality of the nervous system	3654	IRAK1	ORPHA:93552
HP:0000707	Abnormality of the nervous system	613	BCR	ORPHA:261330
HP:0000707	Abnormality of the nervous system	1399	CRKL	ORPHA:261330
HP:0000707	Abnormality of the nervous system	5594	MAPK1	ORPHA:261330
HP:0000707	Abnormality of the nervous system	5575	PRKAR1B	ORPHA:412066
HP:0000707	Abnormality of the nervous system	55777	MBD5	OMIM:156200
HP:0000707	Abnormality of the nervous system	27086	FOXP1	OMIM:613670
HP:0000707	Abnormality of the nervous system	5664	PSEN2	ORPHA:1020
HP:0000707	Abnormality of the nervous system	10452	TOMM40	ORPHA:1020
HP:0000707	Abnormality of the nervous system	10347	ABCA7	ORPHA:1020
HP:0000707	Abnormality of the nervous system	6653	SORL1	ORPHA:1020
HP:0000707	Abnormality of the nervous system	5190	PEX6	ORPHA:95433
HP:0000707	Abnormality of the nervous system	11253	MAN1B1	ORPHA:397941
HP:0000707	Abnormality of the nervous system	57459	GATAD2B	OMIM:615074
HP:0000707	Abnormality of the nervous system	57459	GATAD2B	ORPHA:363686
HP:0000707	Abnormality of the nervous system	22856	CHSY1	ORPHA:363417
HP:0000707	Abnormality of the nervous system	51126	NAA20	OMIM:619717
HP:0000707	Abnormality of the nervous system	132	ADK	OMIM:614300
HP:0000707	Abnormality of the nervous system	25821	MTO1	OMIM:614702
HP:0000707	Abnormality of the nervous system	6418	SET	OMIM:618106
HP:0000707	Abnormality of the nervous system	7109	TRAPPC10	OMIM:620027
HP:0000707	Abnormality of the nervous system	84942	WDR73	OMIM:251300
HP:0000707	Abnormality of the nervous system	79796	ALG9	OMIM:608776
HP:0000707	Abnormality of the nervous system	5279	PIGC	OMIM:617816
HP:0000707	Abnormality of the nervous system	3190	HNRNPK	ORPHA:453504
HP:0000707	Abnormality of the nervous system	3190	HNRNPK	OMIM:616580
HP:0000707	Abnormality of the nervous system	3190	HNRNPK	ORPHA:352665
HP:0000707	Abnormality of the nervous system	1120	CHKB	OMIM:602541
HP:0000707	Abnormality of the nervous system	57165	GJC2	OMIM:608804
HP:0000707	Abnormality of the nervous system	7707	ZNF148	OMIM:617260
HP:0000707	Abnormality of the nervous system	2593	GAMT	ORPHA:382
HP:0000707	Abnormality of the nervous system	2972	BRF1	ORPHA:444072
HP:0000707	Abnormality of the nervous system	6873	TAF2	ORPHA:397951
HP:0000707	Abnormality of the nervous system	4953	ODC1	ORPHA:544488
HP:0000707	Abnormality of the nervous system	84197	POMK	OMIM:615249
HP:0000707	Abnormality of the nervous system	11152	WDR45	ORPHA:329284
HP:0000707	Abnormality of the nervous system	11152	WDR45	OMIM:300894
HP:0000707	Abnormality of the nervous system	526	ATP6V1B2	ORPHA:79499
HP:0000707	Abnormality of the nervous system	9126	SMC3	OMIM:610759
HP:0000707	Abnormality of the nervous system	26224	FBXL3	OMIM:606220
HP:0000707	Abnormality of the nervous system	90161	HS6ST2	OMIM:301025
HP:0000707	Abnormality of the nervous system	79158	GNPTAB	ORPHA:576
HP:0000707	Abnormality of the nervous system	29925	GMPPB	ORPHA:370968
HP:0000707	Abnormality of the nervous system	29954	POMT2	ORPHA:370968
HP:0000707	Abnormality of the nervous system	9215	LARGE1	ORPHA:370968
HP:0000707	Abnormality of the nervous system	10585	POMT1	ORPHA:370968
HP:0000707	Abnormality of the nervous system	10559	SLC35A1	OMIM:603585
HP:0000707	Abnormality of the nervous system	56992	KIF15	ORPHA:261323
HP:0000707	Abnormality of the nervous system	818	CAMK2G	OMIM:618522
HP:0000707	Abnormality of the nervous system	51116	MRPS2	OMIM:617950
HP:0000707	Abnormality of the nervous system	8831	SYNGAP1	ORPHA:544254
HP:0000707	Abnormality of the nervous system	1757	SARDH	ORPHA:3129
HP:0000707	Abnormality of the nervous system	7436	VLDLR	OMIM:224050
HP:0000707	Abnormality of the nervous system	81857	MED25	ORPHA:464738
HP:0000707	Abnormality of the nervous system	93986	FOXP2	ORPHA:209908
HP:0000707	Abnormality of the nervous system	93627	TBCK	OMIM:616900
HP:0000707	Abnormality of the nervous system	116442	RAB39B	OMIM:311510
HP:0000707	Abnormality of the nervous system	259232	NALCN	OMIM:615419
HP:0000707	Abnormality of the nervous system	23389	MED13L	ORPHA:369891
HP:0000707	Abnormality of the nervous system	23389	MED13L	OMIM:616789
HP:0000707	Abnormality of the nervous system	2626	GATA4	ORPHA:251071
HP:0000707	Abnormality of the nervous system	56776	FMN2	OMIM:616193
HP:0000707	Abnormality of the nervous system	7319	UBE2A	OMIM:300860
HP:0000707	Abnormality of the nervous system	7319	UBE2A	ORPHA:163956
HP:0000707	Abnormality of the nervous system	1605	DAG1	ORPHA:280333
HP:0000707	Abnormality of the nervous system	1193	CLIC2	ORPHA:324410
HP:0000707	Abnormality of the nervous system	10297	APC2	OMIM:617169
HP:0000707	Abnormality of the nervous system	5283	PIGH	OMIM:618010
HP:0000707	Abnormality of the nervous system	2257	FGF12	OMIM:617166
HP:0000707	Abnormality of the nervous system	3340	NDST1	OMIM:616116
HP:0000707	Abnormality of the nervous system	23152	CIC	OMIM:617600
HP:0000707	Abnormality of the nervous system	1729	DIAPH1	OMIM:616632
HP:0000707	Abnormality of the nervous system	8635	RNASET2	OMIM:612951
HP:0000707	Abnormality of the nervous system	11212	PLPBP	OMIM:617290
HP:0000707	Abnormality of the nervous system	388662	SLC6A17	ORPHA:457212
HP:0000707	Abnormality of the nervous system	5063	PAK3	OMIM:300558
HP:0000707	Abnormality of the nervous system	8905	AP1S2	ORPHA:85335
HP:0000707	Abnormality of the nervous system	163786	SASS6	OMIM:616402
HP:0000707	Abnormality of the nervous system	998	CDC42	ORPHA:487796
HP:0000707	Abnormality of the nervous system	9894	TELO2	ORPHA:488642
HP:0000707	Abnormality of the nervous system	4983	OPHN1	ORPHA:137831
HP:0000707	Abnormality of the nervous system	285175	UNC80	OMIM:616801
HP:0000707	Abnormality of the nervous system	85440	DOCK7	ORPHA:411986
HP:0000707	Abnormality of the nervous system	1737	DLAT	OMIM:245348
HP:0000707	Abnormality of the nervous system	55210	ATAD3A	ORPHA:496790
HP:0000707	Abnormality of the nervous system	5058	PAK1	OMIM:618158
HP:0000707	Abnormality of the nervous system	2232	FDXR	ORPHA:543470
HP:0000707	Abnormality of the nervous system	28952	CCDC22	OMIM:300963
HP:0000707	Abnormality of the nervous system	81887	LAS1L	ORPHA:3459
HP:0000707	Abnormality of the nervous system	55869	HDAC8	ORPHA:3459
HP:0000707	Abnormality of the nervous system	57570	TRMT5	OMIM:616539
HP:0000707	Abnormality of the nervous system	54112	GPR88	OMIM:616939
HP:0000707	Abnormality of the nervous system	93587	TRMT10A	ORPHA:391408
HP:0000707	Abnormality of the nervous system	84919	PPP1R15B	ORPHA:391408
HP:0000707	Abnormality of the nervous system	55691	FRMD4A	ORPHA:466688
HP:0000707	Abnormality of the nervous system	10717	AP4B1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	9179	AP4M1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	11154	AP4S1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	23431	AP4E1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	4841	NONO	ORPHA:466791
HP:0000707	Abnormality of the nervous system	23545	ATP6V0A2	ORPHA:357074
HP:0000707	Abnormality of the nervous system	523	ATP6V1A	ORPHA:357074
HP:0000707	Abnormality of the nervous system	529	ATP6V1E1	ORPHA:357074
HP:0000707	Abnormality of the nervous system	5528	PPP2R5D	ORPHA:457279
HP:0000707	Abnormality of the nervous system	55084	SOBP	OMIM:613671
HP:0000707	Abnormality of the nervous system	2990	GUSB	OMIM:253220
HP:0000707	Abnormality of the nervous system	5879	RAC1	ORPHA:500159
HP:0000707	Abnormality of the nervous system	162417	NAGS	ORPHA:927
HP:0000707	Abnormality of the nervous system	3458	IFNG	ORPHA:805
HP:0000707	Abnormality of the nervous system	7248	TSC1	ORPHA:805
HP:0000707	Abnormality of the nervous system	7249	TSC2	ORPHA:805
HP:0000707	Abnormality of the nervous system	11043	MID2	OMIM:300928
HP:0000707	Abnormality of the nervous system	6595	SMARCA2	OMIM:601358
HP:0000707	Abnormality of the nervous system	26100	WIPI2	OMIM:618453
HP:0000707	Abnormality of the nervous system	8295	TRRAP	OMIM:618454
HP:0000707	Abnormality of the nervous system	1968	EIF2S3	OMIM:300148
HP:0000707	Abnormality of the nervous system	341208	HEPHL1	OMIM:261990
HP:0000707	Abnormality of the nervous system	6878	TAF6	OMIM:617126
HP:0000707	Abnormality of the nervous system	5518	PPP2R1A	ORPHA:457284
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:411515
HP:0000707	Abnormality of the nervous system	57194	ATP10A	ORPHA:411515
HP:0000707	Abnormality of the nervous system	54808	DYM	ORPHA:239
HP:0000707	Abnormality of the nervous system	22	ABCB7	OMIM:301310
HP:0000707	Abnormality of the nervous system	131118	DNAJC19	OMIM:610198
HP:0000707	Abnormality of the nervous system	5457	POU4F1	ORPHA:314647
HP:0000707	Abnormality of the nervous system	23261	CAMTA1	ORPHA:314647
HP:0000707	Abnormality of the nervous system	85300	ATCAY	ORPHA:94122
HP:0000707	Abnormality of the nervous system	55280	CWF19L1	ORPHA:453521
HP:0000707	Abnormality of the nervous system	55835	CENPJ	OMIM:608393
HP:0000707	Abnormality of the nervous system	259266	ASPM	OMIM:608716
HP:0000707	Abnormality of the nervous system	8621	CDK13	OMIM:617360
HP:0000707	Abnormality of the nervous system	55755	CDK5RAP2	OMIM:604804
HP:0000707	Abnormality of the nervous system	6925	TCF4	ORPHA:2896
HP:0000707	Abnormality of the nervous system	79648	MCPH1	OMIM:251200
HP:0000707	Abnormality of the nervous system	63925	ZNF335	ORPHA:329228
HP:0000707	Abnormality of the nervous system	64324	NSD1	OMIM:117550
HP:0000707	Abnormality of the nervous system	8565	YARS1	OMIM:619418
HP:0000707	Abnormality of the nervous system	644096	SDHAF1	ORPHA:3208
HP:0000707	Abnormality of the nervous system	9439	MED23	OMIM:614249
HP:0000707	Abnormality of the nervous system	8085	KMT2D	OMIM:620186
HP:0000707	Abnormality of the nervous system	10847	SRCAP	OMIM:136140
HP:0000707	Abnormality of the nervous system	6472	SHMT2	OMIM:619121
HP:0000707	Abnormality of the nervous system	27245	AHDC1	ORPHA:412069
HP:0000707	Abnormality of the nervous system	55186	SLC25A36	OMIM:620211
HP:0000707	Abnormality of the nervous system	7547	ZIC3	OMIM:306955
HP:0000707	Abnormality of the nervous system	64840	PORCN	OMIM:305600
HP:0000707	Abnormality of the nervous system	341640	FREM2	ORPHA:2052
HP:0000707	Abnormality of the nervous system	80144	FRAS1	ORPHA:2052
HP:0000707	Abnormality of the nervous system	80144	FRAS1	OMIM:219000
HP:0000707	Abnormality of the nervous system	23426	GRIP1	ORPHA:2052
HP:0000707	Abnormality of the nervous system	5077	PAX3	OMIM:193500
HP:0000707	Abnormality of the nervous system	4488	MSX2	ORPHA:60015
HP:0000707	Abnormality of the nervous system	60529	ALX4	ORPHA:60015
HP:0000707	Abnormality of the nervous system	168667	BMPER	ORPHA:66637
HP:0000707	Abnormality of the nervous system	57216	VANGL2	OMIM:182940
HP:0000707	Abnormality of the nervous system	6347	CCL2	OMIM:182940
HP:0000707	Abnormality of the nervous system	81839	VANGL1	OMIM:182940
HP:0000707	Abnormality of the nervous system	81839	VANGL1	OMIM:600145
HP:0000707	Abnormality of the nervous system	6862	TBXT	OMIM:182940
HP:0000707	Abnormality of the nervous system	10093	ARPC4	OMIM:620141
HP:0000707	Abnormality of the nervous system	25942	SIN3A	ORPHA:94065
HP:0000707	Abnormality of the nervous system	6628	SNRPB	ORPHA:1393
HP:0000707	Abnormality of the nervous system	84667	HES7	OMIM:613686
HP:0000707	Abnormality of the nervous system	2737	GLI3	ORPHA:93322
HP:0000707	Abnormality of the nervous system	2316	FLNA	ORPHA:90652
HP:0000707	Abnormality of the nervous system	3481	IGF2	ORPHA:2128
HP:0000707	Abnormality of the nervous system	10984	KCNQ1OT1	ORPHA:2128
HP:0000707	Abnormality of the nervous system	283120	H19	ORPHA:2128
HP:0000707	Abnormality of the nervous system	6309	SC5D	OMIM:607330
HP:0000707	Abnormality of the nervous system	63895	PIEZO2	OMIM:248700
HP:0000707	Abnormality of the nervous system	8818	DPM2	OMIM:615042
HP:0000707	Abnormality of the nervous system	8722	CTSF	OMIM:615362
HP:0000707	Abnormality of the nervous system	6487	ST3GAL3	OMIM:615006
HP:0000707	Abnormality of the nervous system	22931	RAB18	OMIM:614222
HP:0000707	Abnormality of the nervous system	3032	HADHB	ORPHA:746
HP:0000707	Abnormality of the nervous system	3030	HADHA	ORPHA:746
HP:0000707	Abnormality of the nervous system	57338	JPH3	ORPHA:98934
HP:0000707	Abnormality of the nervous system	23400	ATP13A2	ORPHA:513436
HP:0000707	Abnormality of the nervous system	5354	PLP1	ORPHA:280234
HP:0000707	Abnormality of the nervous system	5354	PLP1	OMIM:312080
HP:0000707	Abnormality of the nervous system	54	ACP5	OMIM:607944
HP:0000707	Abnormality of the nervous system	2760	GM2A	ORPHA:309246
HP:0000707	Abnormality of the nervous system	79152	FA2H	ORPHA:329308
HP:0000707	Abnormality of the nervous system	6711	SPTBN1	OMIM:619475
HP:0000707	Abnormality of the nervous system	133686	NADK2	ORPHA:431361
HP:0000707	Abnormality of the nervous system	383	ARG1	OMIM:207800
HP:0000707	Abnormality of the nervous system	383	ARG1	ORPHA:90
HP:0000707	Abnormality of the nervous system	5048	PAFAH1B1	ORPHA:95232
HP:0000707	Abnormality of the nervous system	7840	ALMS1	ORPHA:64
HP:0000707	Abnormality of the nervous system	51594	NBAS	OMIM:616483
HP:0000707	Abnormality of the nervous system	1738	DLD	ORPHA:2394
HP:0000707	Abnormality of the nervous system	60561	RINT1	OMIM:618641
HP:0000707	Abnormality of the nervous system	57169	ZNFX1	OMIM:619644
HP:0000707	Abnormality of the nervous system	5105	PCK1	OMIM:261680
HP:0000707	Abnormality of the nervous system	54914	FOCAD	OMIM:619991
HP:0000707	Abnormality of the nervous system	7289	TULP3	OMIM:619902
HP:0000707	Abnormality of the nervous system	10165	SLC25A13	ORPHA:247585
HP:0000707	Abnormality of the nervous system	331	XIAP	OMIM:308240
HP:0000707	Abnormality of the nervous system	4068	SH2D1A	OMIM:308240
HP:0000707	Abnormality of the nervous system	9451	EIF2AK3	ORPHA:1667
HP:0000707	Abnormality of the nervous system	410	ARSA	ORPHA:309271
HP:0000707	Abnormality of the nervous system	6261	RYR1	ORPHA:597
HP:0000707	Abnormality of the nervous system	65055	REEP1	ORPHA:101011
HP:0000707	Abnormality of the nervous system	4750	NEK1	OMIM:617892
HP:0000707	Abnormality of the nervous system	9782	MATR3	OMIM:606070
HP:0000707	Abnormality of the nervous system	84665	MYPN	ORPHA:171439
HP:0000707	Abnormality of the nervous system	58	ACTA1	ORPHA:171439
HP:0000707	Abnormality of the nervous system	7169	TPM2	ORPHA:171439
HP:0000707	Abnormality of the nervous system	390594	KBTBD13	ORPHA:171439
HP:0000707	Abnormality of the nervous system	4703	NEB	ORPHA:171439
HP:0000707	Abnormality of the nervous system	10324	KLHL41	ORPHA:171439
HP:0000707	Abnormality of the nervous system	7170	TPM3	ORPHA:171439
HP:0000707	Abnormality of the nervous system	773	CACNA1A	ORPHA:2131
HP:0000707	Abnormality of the nervous system	6507	SLC1A3	ORPHA:2131
HP:0000707	Abnormality of the nervous system	477	ATP1A2	ORPHA:2131
HP:0000707	Abnormality of the nervous system	478	ATP1A3	ORPHA:2131
HP:0000707	Abnormality of the nervous system	478	ATP1A3	OMIM:128235
HP:0000707	Abnormality of the nervous system	8398	PLA2G6	ORPHA:35069
HP:0000707	Abnormality of the nervous system	80208	SPG11	OMIM:602099
HP:0000707	Abnormality of the nervous system	80208	SPG11	ORPHA:300605
HP:0000707	Abnormality of the nervous system	9217	VAPB	OMIM:608627
HP:0000707	Abnormality of the nervous system	4535	MT-ND1	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4536	MT-ND2	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4537	MT-ND3	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4538	MT-ND4	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4567	MT-TL1	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4578	MT-TW	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4577	MT-TV	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4508	MT-ATP6	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4540	MT-ND5	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4541	MT-ND6	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4566	MT-TK	ORPHA:255210
HP:0000707	Abnormality of the nervous system	2521	FUS	ORPHA:300605
HP:0000707	Abnormality of the nervous system	10280	SIGMAR1	ORPHA:300605
HP:0000707	Abnormality of the nervous system	57679	ALS2	ORPHA:300605
HP:0000707	Abnormality of the nervous system	2629	GBA1	OMIM:230900
HP:0000707	Abnormality of the nervous system	2934	GSN	ORPHA:85448
HP:0000707	Abnormality of the nervous system	2670	GFAP	OMIM:203450
HP:0000707	Abnormality of the nervous system	10342	TFG	ORPHA:90117
HP:0000707	Abnormality of the nervous system	9373	PLAA	ORPHA:521426
HP:0000707	Abnormality of the nervous system	9373	PLAA	OMIM:617527
HP:0000707	Abnormality of the nervous system	9896	FIG4	OMIM:612577
HP:0000707	Abnormality of the nervous system	400916	CHCHD10	ORPHA:276435
HP:0000707	Abnormality of the nervous system	23516	SLC39A14	ORPHA:521406
HP:0000707	Abnormality of the nervous system	6310	ATXN1	ORPHA:98755
HP:0000707	Abnormality of the nervous system	2775	GNAO1	OMIM:617493
HP:0000707	Abnormality of the nervous system	57187	THOC2	OMIM:300957
HP:0000707	Abnormality of the nervous system	57187	THOC2	ORPHA:457240
HP:0000707	Abnormality of the nervous system	60684	TRAPPC11	OMIM:615356
HP:0000707	Abnormality of the nervous system	60684	TRAPPC11	ORPHA:369847
HP:0000707	Abnormality of the nervous system	6531	SLC6A3	OMIM:613135
HP:0000707	Abnormality of the nervous system	7701	ZNF142	OMIM:618425
HP:0000707	Abnormality of the nervous system	6323	SCN1A	OMIM:619317
HP:0000707	Abnormality of the nervous system	2643	GCH1	OMIM:233910
HP:0000707	Abnormality of the nervous system	10846	PDE10A	OMIM:616921
HP:0000707	Abnormality of the nervous system	4552	MTRR	OMIM:236270
HP:0000707	Abnormality of the nervous system	10479	SLC9A6	OMIM:300243
HP:0000707	Abnormality of the nervous system	2571	GAD1	OMIM:619124
HP:0000707	Abnormality of the nervous system	6857	SYT1	ORPHA:522077
HP:0000707	Abnormality of the nervous system	6857	SYT1	OMIM:618218
HP:0000707	Abnormality of the nervous system	10730	YME1L1	OMIM:617302
HP:0000707	Abnormality of the nervous system	5660	PSAP	OMIM:611721
HP:0000707	Abnormality of the nervous system	29920	PYCR2	OMIM:616420
HP:0000707	Abnormality of the nervous system	23732	FRRS1L	OMIM:616981
HP:0000707	Abnormality of the nervous system	23732	FRRS1L	ORPHA:725
HP:0000707	Abnormality of the nervous system	777	CACNA1E	OMIM:618285
HP:0000707	Abnormality of the nervous system	816	CAMK2B	OMIM:617799
HP:0000707	Abnormality of the nervous system	10352	WARS2	OMIM:619738
HP:0000707	Abnormality of the nervous system	2903	GRIN2A	ORPHA:725
HP:0000707	Abnormality of the nervous system	10020	GNE	ORPHA:3166
HP:0000707	Abnormality of the nervous system	3954	LETM1	OMIM:620089
HP:0000707	Abnormality of the nervous system	5805	PTS	ORPHA:13
HP:0000707	Abnormality of the nervous system	23096	IQSEC2	ORPHA:397933
HP:0000707	Abnormality of the nervous system	774	CACNA1B	OMIM:618497
HP:0000707	Abnormality of the nervous system	81570	CLPB	OMIM:616271
HP:0000707	Abnormality of the nervous system	8802	SUCLG1	ORPHA:17
HP:0000707	Abnormality of the nervous system	2902	GRIN1	OMIM:614254
HP:0000707	Abnormality of the nervous system	8803	SUCLA2	OMIM:612073
HP:0000707	Abnormality of the nervous system	4761	NEUROD2	OMIM:618374
HP:0000707	Abnormality of the nervous system	23230	VPS13A	ORPHA:2388
HP:0000707	Abnormality of the nervous system	6326	SCN2A	OMIM:613721
HP:0000707	Abnormality of the nervous system	7915	ALDH5A1	OMIM:271980
HP:0000707	Abnormality of the nervous system	112476	PRRT2	ORPHA:98810
HP:0000707	Abnormality of the nervous system	25953	PNKD	ORPHA:98810
HP:0000707	Abnormality of the nervous system	3028	HSD17B10	ORPHA:391428
HP:0000707	Abnormality of the nervous system	9131	AIFM1	ORPHA:238329
HP:0000707	Abnormality of the nervous system	9131	AIFM1	OMIM:300816
HP:0000707	Abnormality of the nervous system	4702	NDUFA8	OMIM:619272
HP:0000707	Abnormality of the nervous system	4558	MT-TF	ORPHA:550
HP:0000707	Abnormality of the nervous system	4572	MT-TQ	ORPHA:550
HP:0000707	Abnormality of the nervous system	4512	MT-CO1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4513	MT-CO2	ORPHA:550
HP:0000707	Abnormality of the nervous system	4514	MT-CO3	ORPHA:550
HP:0000707	Abnormality of the nervous system	4574	MT-TS1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4574	MT-TS1	OMIM:220110
HP:0000707	Abnormality of the nervous system	4575	MT-TS2	ORPHA:550
HP:0000707	Abnormality of the nervous system	4564	MT-TH	ORPHA:550
HP:0000707	Abnormality of the nervous system	54539	NDUFB11	ORPHA:2609
HP:0000707	Abnormality of the nervous system	51103	NDUFAF1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	51300	TIMMDC1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4716	NDUFB10	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4723	NDUFV1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4723	NDUFV1	OMIM:618225
HP:0000707	Abnormality of the nervous system	4723	NDUFV1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	55572	FOXRED1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	55572	FOXRED1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	284184	NDUFAF8	ORPHA:2609
HP:0000707	Abnormality of the nervous system	55863	TMEM126B	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4729	NDUFV2	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4729	NDUFV2	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4694	NDUFA1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4724	NDUFS4	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4724	NDUFS4	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4724	NDUFS4	OMIM:252010
HP:0000707	Abnormality of the nervous system	4726	NDUFS6	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4728	NDUFS8	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4728	NDUFS8	ORPHA:255241
HP:0000707	Abnormality of the nervous system	79133	NDUFAF5	ORPHA:2609
HP:0000707	Abnormality of the nervous system	79133	NDUFAF5	OMIM:618238
HP:0000707	Abnormality of the nervous system	79133	NDUFAF5	ORPHA:255241
HP:0000707	Abnormality of the nervous system	126328	NDUFA11	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4709	NDUFB3	ORPHA:2609
HP:0000707	Abnormality of the nervous system	80224	NUBPL	ORPHA:2609
HP:0000707	Abnormality of the nervous system	80224	NUBPL	OMIM:618242
HP:0000707	Abnormality of the nervous system	29078	NDUFAF4	ORPHA:2609
HP:0000707	Abnormality of the nervous system	374291	NDUFS7	ORPHA:2609
HP:0000707	Abnormality of the nervous system	374291	NDUFS7	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4715	NDUFB9	ORPHA:2609
HP:0000707	Abnormality of the nervous system	57128	LYRM4	OMIM:615595
HP:0000707	Abnormality of the nervous system	4570	MT-TN	OMIM:220110
HP:0000707	Abnormality of the nervous system	64849	SLC13A3	OMIM:618384
HP:0000707	Abnormality of the nervous system	92609	TIMM50	OMIM:617698
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	OMIM:612126
HP:0000707	Abnormality of the nervous system	85476	GFM1	OMIM:609060
HP:0000707	Abnormality of the nervous system	4191	MDH2	OMIM:617339
HP:0000707	Abnormality of the nervous system	84334	COA8	ORPHA:436271
HP:0000707	Abnormality of the nervous system	90624	LYRM7	OMIM:615838
HP:0000707	Abnormality of the nervous system	123263	MTFMT	OMIM:614947
HP:0000707	Abnormality of the nervous system	123263	MTFMT	ORPHA:255241
HP:0000707	Abnormality of the nervous system	10667	FARS2	OMIM:614946
HP:0000707	Abnormality of the nervous system	8050	PDHX	ORPHA:255182
HP:0000707	Abnormality of the nervous system	128240	NAXE	OMIM:617186
HP:0000707	Abnormality of the nervous system	25828	TXN2	ORPHA:478029
HP:0000707	Abnormality of the nervous system	25828	TXN2	OMIM:616811
HP:0000707	Abnormality of the nervous system	5160	PDHA1	OMIM:312170
HP:0000707	Abnormality of the nervous system	5160	PDHA1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	5160	PDHA1	ORPHA:79243
HP:0000707	Abnormality of the nervous system	56997	COQ8A	ORPHA:139485
HP:0000707	Abnormality of the nervous system	56997	COQ8A	OMIM:612016
HP:0000707	Abnormality of the nervous system	1352	COX10	OMIM:619046
HP:0000707	Abnormality of the nervous system	84340	GFM2	OMIM:618397
HP:0000707	Abnormality of the nervous system	84340	GFM2	ORPHA:565624
HP:0000707	Abnormality of the nervous system	54931	TRMT10C	OMIM:616974
HP:0000707	Abnormality of the nervous system	539	ATP5PO	OMIM:620359
HP:0000707	Abnormality of the nervous system	57038	RARS2	OMIM:611523
HP:0000707	Abnormality of the nervous system	87178	PNPT1	ORPHA:319514
HP:0000707	Abnormality of the nervous system	87178	PNPT1	OMIM:614932
HP:0000707	Abnormality of the nervous system	1340	COX6B1	OMIM:619051
HP:0000707	Abnormality of the nervous system	55967	NDUFA12	ORPHA:255241
HP:0000707	Abnormality of the nervous system	55967	NDUFA12	OMIM:618244
HP:0000707	Abnormality of the nervous system	51204	TACO1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	137682	NDUFAF6	ORPHA:255241
HP:0000707	Abnormality of the nervous system	100131801	PET100	ORPHA:255241
HP:0000707	Abnormality of the nervous system	100131801	PET100	OMIM:619055
HP:0000707	Abnormality of the nervous system	1355	COX15	ORPHA:255241
HP:0000707	Abnormality of the nervous system	1892	ECHS1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	1892	ECHS1	OMIM:616277
HP:0000707	Abnormality of the nervous system	51079	NDUFA13	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4705	NDUFA10	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4705	NDUFA10	OMIM:618243
HP:0000707	Abnormality of the nervous system	51601	LIPT1	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4695	NDUFA2	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4697	NDUFA4	ORPHA:255241
HP:0000707	Abnormality of the nervous system	4697	NDUFA4	OMIM:619065
HP:0000707	Abnormality of the nervous system	84987	COX14	OMIM:619053
HP:0000707	Abnormality of the nervous system	1351	COX8A	OMIM:619059
HP:0000707	Abnormality of the nervous system	4358	MPV17	OMIM:618400
HP:0000707	Abnormality of the nervous system	200205	IBA57	OMIM:615330
HP:0000707	Abnormality of the nervous system	60386	SLC25A19	OMIM:613710
HP:0000707	Abnormality of the nervous system	55005	RMND1	OMIM:614922
HP:0000707	Abnormality of the nervous system	9361	LONP1	ORPHA:79243
HP:0000707	Abnormality of the nervous system	91647	ATPAF2	OMIM:604273
HP:0000707	Abnormality of the nervous system	100303755	PET117	OMIM:619063
HP:0000707	Abnormality of the nervous system	27247	NFU1	OMIM:605711
HP:0000707	Abnormality of the nervous system	1327	COX4I1	OMIM:619060
HP:0000707	Abnormality of the nervous system	790955	UQCC3	OMIM:616111
HP:0000707	Abnormality of the nervous system	84300	UQCC2	OMIM:615824
HP:0000707	Abnormality of the nervous system	79731	NARS2	OMIM:616239
HP:0000707	Abnormality of the nervous system	27010	TPK1	OMIM:614458
HP:0000707	Abnormality of the nervous system	5888	RAD51	ORPHA:238722
HP:0000707	Abnormality of the nervous system	10126	DNAL4	ORPHA:238722
HP:0000707	Abnormality of the nervous system	9423	NTN1	ORPHA:238722
HP:0000707	Abnormality of the nervous system	1630	DCC	ORPHA:238722
HP:0000707	Abnormality of the nervous system	2581	GALC	ORPHA:206448
HP:0000707	Abnormality of the nervous system	85465	SELENOI	ORPHA:506353
HP:0000707	Abnormality of the nervous system	55187	VPS13D	ORPHA:95434
HP:0000707	Abnormality of the nervous system	1513	CTSK	ORPHA:763
HP:0000707	Abnormality of the nervous system	54828	BCAS3	OMIM:619641
HP:0000707	Abnormality of the nervous system	443	ASPA	ORPHA:314918
HP:0000707	Abnormality of the nervous system	55131	RBM28	OMIM:612079
HP:0000707	Abnormality of the nervous system	25978	CHMP2B	ORPHA:275864
HP:0000707	Abnormality of the nervous system	2896	GRN	ORPHA:275864
HP:0000707	Abnormality of the nervous system	54664	TMEM106B	ORPHA:275864
HP:0000707	Abnormality of the nervous system	54209	TREM2	ORPHA:275864
HP:0000707	Abnormality of the nervous system	3897	L1CAM	ORPHA:306617
HP:0000707	Abnormality of the nervous system	3178	HNRNPA1	ORPHA:52430
HP:0000707	Abnormality of the nervous system	3181	HNRNPA2B1	ORPHA:52430
HP:0000707	Abnormality of the nervous system	3060	HCRT	OMIM:161400
HP:0000707	Abnormality of the nervous system	3060	HCRT	ORPHA:2073
HP:0000707	Abnormality of the nervous system	1512	CTSH	ORPHA:2073
HP:0000707	Abnormality of the nervous system	5032	P2RY11	ORPHA:2073
HP:0000707	Abnormality of the nervous system	4340	MOG	ORPHA:2073
HP:0000707	Abnormality of the nervous system	22891	ZNF365	ORPHA:2073
HP:0000707	Abnormality of the nervous system	7292	TNFSF4	ORPHA:2073
HP:0000707	Abnormality of the nervous system	6492	SIM1	ORPHA:398079
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	ORPHA:398069
HP:0000707	Abnormality of the nervous system	1786	DNMT1	OMIM:604121
HP:0000707	Abnormality of the nervous system	4221	MEN1	ORPHA:97279
HP:0000707	Abnormality of the nervous system	7528	YY1	ORPHA:97279
HP:0000707	Abnormality of the nervous system	51128	SAR1B	OMIM:246700
HP:0000707	Abnormality of the nervous system	51062	ATL1	ORPHA:100984
HP:0000707	Abnormality of the nervous system	23345	SYNE1	ORPHA:88644
HP:0000707	Abnormality of the nervous system	123606	NIPA1	ORPHA:100988
HP:0000707	Abnormality of the nervous system	59335	PRDM12	OMIM:616488
HP:0000707	Abnormality of the nervous system	2617	GARS1	ORPHA:139536
HP:0000707	Abnormality of the nervous system	4803	NGF	OMIM:608654
HP:0000707	Abnormality of the nervous system	25894	PLEKHG4	ORPHA:98765
HP:0000707	Abnormality of the nervous system	4669	NAGLU	OMIM:616491
HP:0000707	Abnormality of the nervous system	6652	SORD	OMIM:618912
HP:0000707	Abnormality of the nervous system	5192	PEX10	OMIM:614871
HP:0000707	Abnormality of the nervous system	2259	FGF14	OMIM:193003
HP:0000707	Abnormality of the nervous system	146227	BEAN1	ORPHA:217012
HP:0000707	Abnormality of the nervous system	137492	VPS37A	ORPHA:319199
HP:0000707	Abnormality of the nervous system	137492	VPS37A	OMIM:614898
HP:0000707	Abnormality of the nervous system	11284	PNKP	OMIM:616267
HP:0000707	Abnormality of the nervous system	9692	PRORP	OMIM:619737
HP:0000707	Abnormality of the nervous system	4099	MAG	ORPHA:459056
HP:0000707	Abnormality of the nervous system	4556	MT-TE	ORPHA:2596
HP:0000707	Abnormality of the nervous system	5351	PLOD1	ORPHA:1900
HP:0000707	Abnormality of the nervous system	3098	HK1	ORPHA:99953
HP:0000707	Abnormality of the nervous system	5832	ALDH18A1	OMIM:601162
HP:0000707	Abnormality of the nervous system	6712	SPTBN2	OMIM:600224
HP:0000707	Abnormality of the nervous system	59345	GNB4	OMIM:615185
HP:0000707	Abnormality of the nervous system	23503	ZFYVE26	ORPHA:100996
HP:0000707	Abnormality of the nervous system	2583	B4GALNT1	OMIM:609195
HP:0000707	Abnormality of the nervous system	2065	ERBB3	OMIM:243180
HP:0000707	Abnormality of the nervous system	6342	SCP2	OMIM:613724
HP:0000707	Abnormality of the nervous system	9927	MFN2	ORPHA:99947
HP:0000707	Abnormality of the nervous system	5376	PMP22	ORPHA:3115
HP:0000707	Abnormality of the nervous system	10456	HAX1	OMIM:610738
HP:0000707	Abnormality of the nervous system	10749	KIF1C	ORPHA:397946
HP:0000707	Abnormality of the nervous system	10749	KIF1C	OMIM:611302
HP:0000707	Abnormality of the nervous system	5654	HTRA1	ORPHA:199354
HP:0000707	Abnormality of the nervous system	56978	PRDM8	OMIM:616640
HP:0000707	Abnormality of the nervous system	55149	MTPAP	OMIM:613672
HP:0000707	Abnormality of the nervous system	10381	TUBB3	ORPHA:300570
HP:0000707	Abnormality of the nervous system	4038	LRP4	OMIM:614305
HP:0000707	Abnormality of the nervous system	27249	MMADHC	OMIM:277410
HP:0000707	Abnormality of the nervous system	26115	TANC2	OMIM:618906
HP:0000707	Abnormality of the nervous system	6905	TBCE	ORPHA:496756
HP:0000707	Abnormality of the nervous system	51218	GLRX5	OMIM:616859
HP:0000707	Abnormality of the nervous system	11149	BVES	OMIM:616812
HP:0000707	Abnormality of the nervous system	3394	IRF8	OMIM:226990
HP:0000707	Abnormality of the nervous system	1301	COL11A1	ORPHA:560
HP:0000707	Abnormality of the nervous system	1297	COL9A1	ORPHA:166002
HP:0000707	Abnormality of the nervous system	1300	COL10A1	ORPHA:174
HP:0000707	Abnormality of the nervous system	1300	COL10A1	OMIM:156500
HP:0000707	Abnormality of the nervous system	9241	NOG	OMIM:186500
HP:0000707	Abnormality of the nervous system	2335	FN1	OMIM:184255
HP:0000707	Abnormality of the nervous system	203859	ANO5	ORPHA:399096
HP:0000707	Abnormality of the nervous system	142680	SLC34A3	ORPHA:157215
HP:0000707	Abnormality of the nervous system	6569	SLC34A1	ORPHA:157215
HP:0000707	Abnormality of the nervous system	8557	TCAP	OMIM:601954
HP:0000707	Abnormality of the nervous system	374393	FAM111B	OMIM:615704
HP:0000707	Abnormality of the nervous system	64208	POPDC3	OMIM:618848
HP:0000707	Abnormality of the nervous system	5122	PCSK1	ORPHA:71528
HP:0000707	Abnormality of the nervous system	4160	MC4R	ORPHA:71529
HP:0000707	Abnormality of the nervous system	4160	MC4R	OMIM:618406
HP:0000707	Abnormality of the nervous system	3952	LEP	ORPHA:66628
HP:0000707	Abnormality of the nervous system	3952	LEP	OMIM:614962
HP:0000707	Abnormality of the nervous system	4913	NTHL1	ORPHA:454840
HP:0000707	Abnormality of the nervous system	4913	NTHL1	OMIM:616415
HP:0000707	Abnormality of the nervous system	8930	MBD4	OMIM:619975
HP:0000707	Abnormality of the nervous system	7486	WRN	ORPHA:902
HP:0000707	Abnormality of the nervous system	7486	WRN	OMIM:277700
HP:0000707	Abnormality of the nervous system	1743	DLST	ORPHA:29072
HP:0000707	Abnormality of the nervous system	5979	RET	ORPHA:29072
HP:0000707	Abnormality of the nervous system	5979	RET	ORPHA:276621
HP:0000707	Abnormality of the nervous system	8402	SLC25A11	ORPHA:29072
HP:0000707	Abnormality of the nervous system	55654	TMEM127	ORPHA:29072
HP:0000707	Abnormality of the nervous system	4149	MAX	ORPHA:29072
HP:0000707	Abnormality of the nervous system	2034	EPAS1	ORPHA:276621
HP:0000707	Abnormality of the nervous system	8087	FXR1	OMIM:618822
HP:0000707	Abnormality of the nervous system	8087	FXR1	OMIM:618823
HP:0000707	Abnormality of the nervous system	2887	GRB10	ORPHA:96182
HP:0000707	Abnormality of the nervous system	6452	SH3BP2	ORPHA:184
HP:0000707	Abnormality of the nervous system	650	BMP2	OMIM:617877
HP:0000707	Abnormality of the nervous system	1642	DDB1	OMIM:619426
HP:0000707	Abnormality of the nervous system	1906	EDN1	ORPHA:137888
HP:0000707	Abnormality of the nervous system	23405	DICER1	OMIM:601200
HP:0000707	Abnormality of the nervous system	2064	ERBB2	OMIM:137800
HP:0000707	Abnormality of the nervous system	4193	MDM2	ORPHA:524
HP:0000707	Abnormality of the nervous system	11200	CHEK2	ORPHA:524
HP:0000707	Abnormality of the nervous system	56244	BTNL2	ORPHA:797
HP:0000707	Abnormality of the nervous system	83483	PLVAP	OMIM:618183
HP:0000707	Abnormality of the nervous system	51081	MRPS7	OMIM:617872
HP:0000707	Abnormality of the nervous system	429	ASCL1	ORPHA:99803
HP:0000707	Abnormality of the nervous system	861	RUNX1	OMIM:601399
HP:0000707	Abnormality of the nervous system	256646	NUTM1	ORPHA:443167
HP:0000707	Abnormality of the nervous system	3166	HMX1	OMIM:612109
HP:0000707	Abnormality of the nervous system	7072	TIA1	OMIM:604454
HP:0000707	Abnormality of the nervous system	7072	TIA1	ORPHA:603
HP:0000707	Abnormality of the nervous system	7273	TTN	OMIM:600334
HP:0000707	Abnormality of the nervous system	7273	TTN	ORPHA:609
HP:0000707	Abnormality of the nervous system	50717	DCAF8	OMIM:610100
HP:0000707	Abnormality of the nervous system	1959	EGR2	OMIM:607678
HP:0000707	Abnormality of the nervous system	1959	EGR2	OMIM:145900
HP:0000707	Abnormality of the nervous system	81846	SBF2	OMIM:604563
HP:0000707	Abnormality of the nervous system	2273	FHL1	OMIM:300695
HP:0000707	Abnormality of the nervous system	57449	PLEKHG5	OMIM:615376
HP:0000707	Abnormality of the nervous system	3508	IGHMBP2	OMIM:616155
HP:0000707	Abnormality of the nervous system	64423	INF2	OMIM:614455
HP:0000707	Abnormality of the nervous system	1337	COX6A1	OMIM:616039
HP:0000707	Abnormality of the nervous system	50846	DHH	ORPHA:168563
HP:0000707	Abnormality of the nervous system	7879	RAB7A	OMIM:600882
HP:0000707	Abnormality of the nervous system	90678	LRSAM1	OMIM:614436
HP:0000707	Abnormality of the nervous system	23095	KIF1B	OMIM:118210
HP:0000707	Abnormality of the nervous system	9990	SLC12A6	OMIM:218000
HP:0000707	Abnormality of the nervous system	8729	GBF1	OMIM:606483
HP:0000707	Abnormality of the nervous system	23321	TRIM2	OMIM:615490
HP:0000707	Abnormality of the nervous system	56704	JPH1	OMIM:607831
HP:0000707	Abnormality of the nervous system	54463	RETREG1	OMIM:201300
HP:0000707	Abnormality of the nervous system	65125	WNK1	OMIM:201300
HP:0000707	Abnormality of the nervous system	9639	ARHGEF10	OMIM:608236
HP:0000707	Abnormality of the nervous system	6305	SBF1	OMIM:615284
HP:0000707	Abnormality of the nervous system	121512	FGD4	OMIM:609311
HP:0000707	Abnormality of the nervous system	26353	HSPB8	OMIM:608673
HP:0000707	Abnormality of the nervous system	3939	LDHA	ORPHA:284426
HP:0000707	Abnormality of the nervous system	5913	RAPSN	OMIM:616326
HP:0000707	Abnormality of the nervous system	5913	RAPSN	ORPHA:98913
HP:0000707	Abnormality of the nervous system	811	CALR	ORPHA:824
HP:0000707	Abnormality of the nervous system	4352	MPL	ORPHA:824
HP:0000707	Abnormality of the nervous system	3717	JAK2	ORPHA:824
HP:0000707	Abnormality of the nervous system	54790	TET2	ORPHA:824
HP:0000707	Abnormality of the nervous system	1785	DNM2	OMIM:160150
HP:0000707	Abnormality of the nervous system	64419	MTMR14	OMIM:160150
HP:0000707	Abnormality of the nervous system	8838	CCN6	ORPHA:1159
HP:0000707	Abnormality of the nervous system	4780	NFE2L2	OMIM:617744
HP:0000707	Abnormality of the nervous system	1140	CHRNB1	ORPHA:98913
HP:0000707	Abnormality of the nervous system	1140	CHRNB1	OMIM:616313
HP:0000707	Abnormality of the nervous system	221264	AK9	ORPHA:98913
HP:0000707	Abnormality of the nervous system	285489	DOK7	ORPHA:98913
HP:0000707	Abnormality of the nervous system	285489	DOK7	OMIM:254300
HP:0000707	Abnormality of the nervous system	7234	TRU-TCA1-1	OMIM:620198
HP:0000707	Abnormality of the nervous system	57104	PNPLA2	OMIM:610717
HP:0000707	Abnormality of the nervous system	57104	PNPLA2	ORPHA:98908
HP:0000707	Abnormality of the nervous system	50515	CHST11	OMIM:618167
HP:0000707	Abnormality of the nervous system	55033	FKBP14	ORPHA:300179
HP:0000707	Abnormality of the nervous system	79572	ATP13A3	OMIM:265400
HP:0000707	Abnormality of the nervous system	5213	PFKM	OMIM:232800
HP:0000707	Abnormality of the nervous system	51567	TDP2	OMIM:616949
HP:0000707	Abnormality of the nervous system	55750	AGK	OMIM:212350
HP:0000707	Abnormality of the nervous system	23479	ISCU	OMIM:255125
HP:0000707	Abnormality of the nervous system	844	CASQ1	OMIM:616231
HP:0000707	Abnormality of the nervous system	284439	SLC25A42	OMIM:618416
HP:0000707	Abnormality of the nervous system	9531	BAG3	OMIM:612954
HP:0000707	Abnormality of the nervous system	3094	HINT1	ORPHA:324442
HP:0000707	Abnormality of the nervous system	3094	HINT1	OMIM:137200
HP:0000707	Abnormality of the nervous system	64837	KLC2	OMIM:609541
HP:0000707	Abnormality of the nervous system	1509	CTSD	OMIM:610127
HP:0000707	Abnormality of the nervous system	4921	DDR2	OMIM:271665
HP:0000707	Abnormality of the nervous system	2294	FOXF1	OMIM:265380
HP:0000707	Abnormality of the nervous system	3590	IL11RA	OMIM:614188
HP:0000707	Abnormality of the nervous system	23028	KDM1A	OMIM:616728
HP:0000707	Abnormality of the nervous system	25839	COG4	OMIM:618150
HP:0000707	Abnormality of the nervous system	1387	CREBBP	ORPHA:353281
HP:0000707	Abnormality of the nervous system	1387	CREBBP	ORPHA:353277
HP:0000707	Abnormality of the nervous system	92002	CCNQ	ORPHA:140952
HP:0000707	Abnormality of the nervous system	2033	EP300	ORPHA:353284
HP:0000707	Abnormality of the nervous system	10978	CLP1	OMIM:615803
HP:0000707	Abnormality of the nervous system	2192	FBLN1	ORPHA:404451
HP:0000707	Abnormality of the nervous system	6678	SPARC	OMIM:616507
HP:0000707	Abnormality of the nervous system	9939	RBM8A	OMIM:274000
HP:0000707	Abnormality of the nervous system	8091	HMGA2	ORPHA:94063
HP:0000707	Abnormality of the nervous system	23592	LEMD3	ORPHA:94063
HP:0000707	Abnormality of the nervous system	860	RUNX2	OMIM:119600
HP:0000707	Abnormality of the nervous system	4853	NOTCH2	ORPHA:955
HP:0000707	Abnormality of the nervous system	6911	TBX6	OMIM:122600
HP:0000707	Abnormality of the nervous system	6399	TRAPPC2	ORPHA:93284
HP:0000707	Abnormality of the nervous system	9630	GNA14	ORPHA:1063
HP:0000707	Abnormality of the nervous system	7389	UROD	ORPHA:95159
HP:0000707	Abnormality of the nervous system	10019	SH2B3	ORPHA:3318
HP:0000707	Abnormality of the nervous system	7390	UROS	ORPHA:79277
HP:0000707	Abnormality of the nervous system	590	BCHE	ORPHA:132
HP:0000707	Abnormality of the nervous system	966	CD59	OMIM:612300
HP:0000707	Abnormality of the nervous system	210	ALAD	OMIM:612740
HP:0000707	Abnormality of the nervous system	8148	TAF15	ORPHA:803
HP:0000707	Abnormality of the nervous system	5445	PON2	ORPHA:803
HP:0000707	Abnormality of the nervous system	55830	GLT8D1	ORPHA:803
HP:0000707	Abnormality of the nervous system	10891	PPARGC1A	ORPHA:803
HP:0000707	Abnormality of the nervous system	5444	PON1	ORPHA:803
HP:0000707	Abnormality of the nervous system	5446	PON3	ORPHA:803
HP:0000707	Abnormality of the nervous system	283	ANG	ORPHA:803
HP:0000707	Abnormality of the nervous system	2043	EPHA4	ORPHA:803
HP:0000707	Abnormality of the nervous system	1610	DAO	ORPHA:803
HP:0000707	Abnormality of the nervous system	2066	ERBB4	ORPHA:803
HP:0000707	Abnormality of the nervous system	23025	UNC13A	ORPHA:803
HP:0000707	Abnormality of the nervous system	1758	DMP1	ORPHA:289176
HP:0000707	Abnormality of the nervous system	84876	ORAI1	ORPHA:2593
HP:0000707	Abnormality of the nervous system	10568	SLC34A2	ORPHA:60025
HP:0000707	Abnormality of the nervous system	8029	CUBN	OMIM:261100
HP:0000707	Abnormality of the nervous system	2694	CBLIF	OMIM:261000
HP:0000707	Abnormality of the nervous system	5498	PPOX	ORPHA:79473
HP:0000707	Abnormality of the nervous system	274	BIN1	ORPHA:169189
HP:0000707	Abnormality of the nervous system	4618	MYF6	ORPHA:169189
HP:0000707	Abnormality of the nervous system	55182	RNF220	OMIM:619688
HP:0000707	Abnormality of the nervous system	9147	NEMF	OMIM:619099
HP:0000707	Abnormality of the nervous system	7920	ABHD16A	OMIM:619735
HP:0000707	Abnormality of the nervous system	57505	AARS2	OMIM:615889
HP:0000707	Abnormality of the nervous system	84679	SLC9A7	OMIM:301024
HP:0000707	Abnormality of the nervous system	1371	CPOX	OMIM:121300
HP:0000707	Abnormality of the nervous system	8675	STX16	ORPHA:94089
HP:0000707	Abnormality of the nervous system	288	ANK3	OMIM:615493
HP:0000707	Abnormality of the nervous system	288	ANK3	ORPHA:356996
HP:0000707	Abnormality of the nervous system	54517	PUS7	OMIM:618342
HP:0000707	Abnormality of the nervous system	84628	NTNG2	OMIM:618718
HP:0000707	Abnormality of the nervous system	10058	ABCB6	OMIM:609153
HP:0000707	Abnormality of the nervous system	100134444	KCNJ18	OMIM:613239
HP:0000707	Abnormality of the nervous system	2184	FAH	OMIM:276700
HP:0000707	Abnormality of the nervous system	3759	KCNJ2	OMIM:170390
HP:0000707	Abnormality of the nervous system	3759	KCNJ2	ORPHA:37553
HP:0000707	Abnormality of the nervous system	779	CACNA1S	OMIM:170400
HP:0000707	Abnormality of the nervous system	779	CACNA1S	OMIM:188580
HP:0000707	Abnormality of the nervous system	3762	KCNJ5	ORPHA:37553
HP:0000707	Abnormality of the nervous system	3615	IMPDH2	ORPHA:98808
HP:0000707	Abnormality of the nervous system	7054	TH	OMIM:605407
HP:0000707	Abnormality of the nervous system	7054	TH	ORPHA:101150
HP:0000707	Abnormality of the nervous system	55163	PNPO	ORPHA:79096
HP:0000707	Abnormality of the nervous system	55163	PNPO	OMIM:610090
HP:0000707	Abnormality of the nervous system	1644	DDC	OMIM:608643
HP:0000707	Abnormality of the nervous system	9256	TSPOAP1	ORPHA:101150
HP:0000707	Abnormality of the nervous system	256472	TMEM151A	OMIM:620245
HP:0000707	Abnormality of the nervous system	4665	NAB2	ORPHA:2126
HP:0000707	Abnormality of the nervous system	6778	STAT6	ORPHA:2126
HP:0000707	Abnormality of the nervous system	7153	TOP2A	ORPHA:635
HP:0000707	Abnormality of the nervous system	238	ALK	ORPHA:635
HP:0000707	Abnormality of the nervous system	389421	LIN28B	ORPHA:635
HP:0000707	Abnormality of the nervous system	4004	LMO1	ORPHA:635
HP:0000707	Abnormality of the nervous system	558	AXL	OMIM:146110
HP:0000707	Abnormality of the nervous system	10011	SRA1	OMIM:146110
HP:0000707	Abnormality of the nervous system	10194	TSHZ1	OMIM:607842
HP:0000707	Abnormality of the nervous system	9381	OTOF	OMIM:601071
HP:0000707	Abnormality of the nervous system	60482	SLC5A7	ORPHA:98914
HP:0000707	Abnormality of the nervous system	4649	MYO9A	ORPHA:98914
HP:0000707	Abnormality of the nervous system	1305	COL13A1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	1103	CHAT	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6576	SLC25A1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6843	VAMP1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	375790	AGRN	ORPHA:98914
HP:0000707	Abnormality of the nervous system	127833	SYT2	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6572	SLC18A3	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6616	SNAP25	ORPHA:98914
HP:0000707	Abnormality of the nervous system	10621	POLR3F	OMIM:619872
HP:0000707	Abnormality of the nervous system	219285	SAMD9L	OMIM:159550
HP:0000707	Abnormality of the nervous system	10159	ATP6AP2	ORPHA:363654
HP:0000707	Abnormality of the nervous system	56006	SMG9	OMIM:616920
HP:0000707	Abnormality of the nervous system	131669	UROC1	ORPHA:210128
HP:0000707	Abnormality of the nervous system	8492	PRSS12	OMIM:249500
HP:0000707	Abnormality of the nervous system	4081	MAB21L1	OMIM:618479
HP:0000707	Abnormality of the nervous system	2697	GJA1	OMIM:164200
HP:0000707	Abnormality of the nervous system	2733	GLE1	OMIM:611890
HP:0000707	Abnormality of the nervous system	7317	UBA1	ORPHA:1145
HP:0000707	Abnormality of the nervous system	10134	BCAP31	OMIM:300475
HP:0000707	Abnormality of the nervous system	10134	BCAP31	ORPHA:369939
HP:0000707	Abnormality of the nervous system	158	ADSL	OMIM:103050
HP:0000707	Abnormality of the nervous system	84992	PIGY	ORPHA:247262
HP:0000707	Abnormality of the nervous system	84720	PIGO	ORPHA:247262
HP:0000707	Abnormality of the nervous system	93210	PGAP3	ORPHA:247262
HP:0000707	Abnormality of the nervous system	284098	PIGW	ORPHA:247262
HP:0000707	Abnormality of the nervous system	27315	PGAP2	ORPHA:247262
HP:0000707	Abnormality of the nervous system	55650	PIGV	ORPHA:247262
HP:0000707	Abnormality of the nervous system	9487	PIGL	ORPHA:247262
HP:0000707	Abnormality of the nervous system	160418	TMTC3	OMIM:617255
HP:0000707	Abnormality of the nervous system	84668	HYCC1	ORPHA:85163
HP:0000707	Abnormality of the nervous system	1528	CYB5A	ORPHA:621
HP:0000707	Abnormality of the nervous system	1727	CYB5R3	ORPHA:621
HP:0000707	Abnormality of the nervous system	8604	SLC25A12	OMIM:612949
HP:0000707	Abnormality of the nervous system	85365	ALG2	ORPHA:79326
HP:0000707	Abnormality of the nervous system	1967	EIF2B1	OMIM:603896
HP:0000707	Abnormality of the nervous system	80232	WDR26	ORPHA:513456
HP:0000707	Abnormality of the nervous system	5917	RARS1	ORPHA:438114
HP:0000707	Abnormality of the nervous system	6663	SOX10	OMIM:611584
HP:0000707	Abnormality of the nervous system	4668	NAGA	OMIM:609242
HP:0000707	Abnormality of the nervous system	23316	CUX2	OMIM:618141
HP:0000707	Abnormality of the nervous system	57468	SLC12A5	OMIM:616645
HP:0000707	Abnormality of the nervous system	50485	SMARCAL1	ORPHA:1830
HP:0000707	Abnormality of the nervous system	6334	SCN8A	OMIM:614558
HP:0000707	Abnormality of the nervous system	51343	FZR1	OMIM:620145
HP:0000707	Abnormality of the nervous system	3769	KCNJ13	ORPHA:65
HP:0000707	Abnormality of the nervous system	343035	RD3	ORPHA:65
HP:0000707	Abnormality of the nervous system	145226	RDH12	ORPHA:65
HP:0000707	Abnormality of the nervous system	1406	CRX	ORPHA:65
HP:0000707	Abnormality of the nervous system	64802	NMNAT1	ORPHA:65
HP:0000707	Abnormality of the nervous system	10383	TUBB4B	ORPHA:65
HP:0000707	Abnormality of the nervous system	9742	IFT140	ORPHA:65
HP:0000707	Abnormality of the nervous system	85015	USP45	ORPHA:65
HP:0000707	Abnormality of the nervous system	6121	RPE65	ORPHA:65
HP:0000707	Abnormality of the nervous system	23418	CRB1	ORPHA:65
HP:0000707	Abnormality of the nervous system	5130	PCYT1A	ORPHA:65
HP:0000707	Abnormality of the nervous system	9657	IQCB1	ORPHA:65
HP:0000707	Abnormality of the nervous system	392255	GDF6	ORPHA:65
HP:0000707	Abnormality of the nervous system	23746	AIPL1	ORPHA:65
HP:0000707	Abnormality of the nervous system	3000	GUCY2D	ORPHA:65
HP:0000707	Abnormality of the nervous system	9227	LRAT	ORPHA:65
HP:0000707	Abnormality of the nervous system	55812	SPATA7	ORPHA:65
HP:0000707	Abnormality of the nervous system	7287	TULP1	ORPHA:65
HP:0000707	Abnormality of the nervous system	167691	LCA5	ORPHA:65
HP:0000707	Abnormality of the nervous system	3614	IMPDH1	ORPHA:65
HP:0000707	Abnormality of the nervous system	1778	DYNC1H1	OMIM:614563
HP:0000707	Abnormality of the nervous system	23229	ARHGEF9	OMIM:300607
HP:0000707	Abnormality of the nervous system	8496	PPFIBP1	OMIM:620024
HP:0000707	Abnormality of the nervous system	28962	OSTM1	ORPHA:85179
HP:0000707	Abnormality of the nervous system	10312	TCIRG1	OMIM:259700
HP:0000707	Abnormality of the nervous system	10312	TCIRG1	ORPHA:667
HP:0000707	Abnormality of the nervous system	5781	PTPN11	ORPHA:2499
HP:0000707	Abnormality of the nervous system	1493	CTLA4	ORPHA:900
HP:0000707	Abnormality of the nervous system	26191	PTPN22	ORPHA:900
HP:0000707	Abnormality of the nervous system	3115	HLA-DPB1	ORPHA:900
HP:0000707	Abnormality of the nervous system	5657	PRTN3	ORPHA:900
HP:0000707	Abnormality of the nervous system	3113	HLA-DPA1	ORPHA:900
HP:0000707	Abnormality of the nervous system	1776	DNASE1L3	ORPHA:36412
HP:0000707	Abnormality of the nervous system	1186	CLCN7	ORPHA:667
HP:0000707	Abnormality of the nervous system	1186	CLCN7	ORPHA:53
HP:0000707	Abnormality of the nervous system	29887	SNX10	ORPHA:667
HP:0000707	Abnormality of the nervous system	8600	TNFSF11	ORPHA:667
HP:0000707	Abnormality of the nervous system	54949	SDHAF2	OMIM:601650
HP:0000707	Abnormality of the nervous system	64072	CDH23	ORPHA:2965
HP:0000707	Abnormality of the nervous system	64072	CDH23	ORPHA:91347
HP:0000707	Abnormality of the nervous system	9049	AIP	ORPHA:2965
HP:0000707	Abnormality of the nervous system	1130	LYST	OMIM:214500
HP:0000707	Abnormality of the nervous system	1130	LYST	ORPHA:167
HP:0000707	Abnormality of the nervous system	6299	SALL1	ORPHA:857
HP:0000707	Abnormality of the nervous system	51339	DACT1	ORPHA:857
HP:0000707	Abnormality of the nervous system	2475	MTOR	ORPHA:99802
HP:0000707	Abnormality of the nervous system	10000	AKT3	ORPHA:99802
HP:0000707	Abnormality of the nervous system	3662	IRF4	ORPHA:3452
HP:0000707	Abnormality of the nervous system	7132	TNFRSF1A	ORPHA:32960
HP:0000707	Abnormality of the nervous system	9723	SEMA3E	ORPHA:138
HP:0000707	Abnormality of the nervous system	101929726	MYMX	ORPHA:1358
HP:0000707	Abnormality of the nervous system	114548	NLRP3	ORPHA:575
HP:0000707	Abnormality of the nervous system	672	BRCA1	ORPHA:84
HP:0000707	Abnormality of the nervous system	10459	MAD2L2	ORPHA:84
HP:0000707	Abnormality of the nervous system	7516	XRCC2	ORPHA:84
HP:0000707	Abnormality of the nervous system	29089	UBE2T	ORPHA:84
HP:0000707	Abnormality of the nervous system	675	BRCA2	ORPHA:84
HP:0000707	Abnormality of the nervous system	55120	FANCL	ORPHA:84
HP:0000707	Abnormality of the nervous system	2177	FANCD2	ORPHA:84
HP:0000707	Abnormality of the nervous system	2175	FANCA	ORPHA:84
HP:0000707	Abnormality of the nervous system	2187	FANCB	ORPHA:84
HP:0000707	Abnormality of the nervous system	2176	FANCC	ORPHA:84
HP:0000707	Abnormality of the nervous system	2178	FANCE	ORPHA:84
HP:0000707	Abnormality of the nervous system	2188	FANCF	ORPHA:84
HP:0000707	Abnormality of the nervous system	2189	FANCG	ORPHA:84
HP:0000707	Abnormality of the nervous system	5889	RAD51C	ORPHA:84
HP:0000707	Abnormality of the nervous system	55159	RFWD3	ORPHA:84
HP:0000707	Abnormality of the nervous system	83990	BRIP1	ORPHA:84
HP:0000707	Abnormality of the nervous system	57697	FANCM	ORPHA:84
HP:0000707	Abnormality of the nervous system	79728	PALB2	ORPHA:84
HP:0000707	Abnormality of the nervous system	84464	SLX4	ORPHA:84
HP:0000707	Abnormality of the nervous system	55215	FANCI	ORPHA:84
HP:0000707	Abnormality of the nervous system	157570	ESCO2	OMIM:268300
HP:0000707	Abnormality of the nervous system	4615	MYD88	ORPHA:33226
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:65285
HP:0000707	Abnormality of the nervous system	4893	NRAS	OMIM:249400
HP:0000707	Abnormality of the nervous system	8792	TNFRSF11A	OMIM:602080
HP:0000707	Abnormality of the nervous system	3145	HMBS	ORPHA:79276
HP:0000707	Abnormality of the nervous system	760	CA2	ORPHA:2785
HP:0000707	Abnormality of the nervous system	149233	IL23R	ORPHA:117
HP:0000707	Abnormality of the nervous system	6775	STAT4	ORPHA:117
HP:0000707	Abnormality of the nervous system	3586	IL10	ORPHA:117
HP:0000707	Abnormality of the nervous system	4210	MEFV	ORPHA:117
HP:0000707	Abnormality of the nervous system	1230	CCR1	ORPHA:117
HP:0000707	Abnormality of the nervous system	355	FAS	ORPHA:117
HP:0000707	Abnormality of the nervous system	3592	IL12A	ORPHA:117
HP:0000707	Abnormality of the nervous system	101928376	IL12A-AS1	ORPHA:117
HP:0000707	Abnormality of the nervous system	7099	TLR4	ORPHA:117
HP:0000707	Abnormality of the nervous system	3459	IFNGR1	ORPHA:117
HP:0000707	Abnormality of the nervous system	720	C4A	ORPHA:117
HP:0000707	Abnormality of the nervous system	337867	UBAC2	ORPHA:117
HP:0000707	Abnormality of the nervous system	51752	ERAP1	ORPHA:117
HP:0000707	Abnormality of the nervous system	8302	KLRC4	ORPHA:117
HP:0000707	Abnormality of the nervous system	4000	LMNA	ORPHA:2348
HP:0000707	Abnormality of the nervous system	5611	DNAJC3	ORPHA:445062
HP:0000707	Abnormality of the nervous system	10908	PNPLA6	ORPHA:139480
HP:0000707	Abnormality of the nervous system	10908	PNPLA6	OMIM:612020
HP:0000707	Abnormality of the nervous system	22948	CCT5	OMIM:256840
HP:0000707	Abnormality of the nervous system	25974	MMACHC	ORPHA:79282
HP:0000707	Abnormality of the nervous system	6304	SATB1	OMIM:619229
HP:0000707	Abnormality of the nervous system	8869	ST3GAL5	OMIM:609056
HP:0000707	Abnormality of the nervous system	84570	COL25A1	ORPHA:91411
HP:0000707	Abnormality of the nervous system	79776	ZFHX4	ORPHA:91411
HP:0000707	Abnormality of the nervous system	5700	PSMC1	OMIM:620071
HP:0000707	Abnormality of the nervous system	55958	KLHL9	ORPHA:399081
HP:0000707	Abnormality of the nervous system	5375	PMP2	OMIM:618279
HP:0000707	Abnormality of the nervous system	10613	ERLIN1	OMIM:615681
HP:0000707	Abnormality of the nervous system	8988	HSPB3	OMIM:613376
HP:0000707	Abnormality of the nervous system	7453	WARS1	OMIM:617721
HP:0000707	Abnormality of the nervous system	6606	SMN1	OMIM:253400
HP:0000707	Abnormality of the nervous system	6607	SMN2	OMIM:253400
HP:0000707	Abnormality of the nervous system	6584	SLC22A5	ORPHA:158
HP:0000707	Abnormality of the nervous system	95	ACY1	OMIM:609924
HP:0000707	Abnormality of the nervous system	5903	RANBP2	ORPHA:88619
HP:0000707	Abnormality of the nervous system	745	MYRF	OMIM:618113
HP:0000707	Abnormality of the nervous system	58472	SQOR	OMIM:619221
HP:0000707	Abnormality of the nervous system	84342	COG8	ORPHA:95428
HP:0000707	Abnormality of the nervous system	498	ATP5F1A	OMIM:620358
HP:0000707	Abnormality of the nervous system	7187	TRAF3	OMIM:614849
HP:0000707	Abnormality of the nervous system	10166	SLC25A15	ORPHA:415
HP:0000707	Abnormality of the nervous system	10166	SLC25A15	OMIM:238970
HP:0000707	Abnormality of the nervous system	5095	PCCA	OMIM:606054
HP:0000707	Abnormality of the nervous system	5096	PCCB	OMIM:606054
HP:0000707	Abnormality of the nervous system	283989	TSEN54	ORPHA:2524
HP:0000707	Abnormality of the nervous system	116461	TSEN15	ORPHA:2524
HP:0000707	Abnormality of the nervous system	79042	TSEN34	ORPHA:2524
HP:0000707	Abnormality of the nervous system	80746	TSEN2	ORPHA:2524
HP:0000707	Abnormality of the nervous system	51091	SEPSECS	ORPHA:2524
HP:0000707	Abnormality of the nervous system	7443	VRK1	OMIM:607596
HP:0000707	Abnormality of the nervous system	4763	NF1	OMIM:162210
HP:0000707	Abnormality of the nervous system	339453	TMEM240	ORPHA:98773
HP:0000707	Abnormality of the nervous system	8450	CUL4B	OMIM:300354
HP:0000707	Abnormality of the nervous system	92935	MARS2	OMIM:611390
HP:0000707	Abnormality of the nervous system	375	ARF1	OMIM:618185
HP:0000707	Abnormality of the nervous system	94005	PIGS	OMIM:618143
HP:0000707	Abnormality of the nervous system	2895	GRID2	OMIM:616204
HP:0000707	Abnormality of the nervous system	2895	GRID2	ORPHA:363432
HP:0000707	Abnormality of the nervous system	64116	SLC39A8	OMIM:616721
HP:0000707	Abnormality of the nervous system	9698	PUM1	OMIM:617931
HP:0000707	Abnormality of the nervous system	4311	MME	OMIM:617018
HP:0000707	Abnormality of the nervous system	4311	MME	ORPHA:497764
HP:0000707	Abnormality of the nervous system	23533	PIK3R5	ORPHA:64753
HP:0000707	Abnormality of the nervous system	23064	SETX	ORPHA:64753
HP:0000707	Abnormality of the nervous system	5828	PEX2	OMIM:614866
HP:0000707	Abnormality of the nervous system	10785	WDR4	OMIM:618347
HP:0000707	Abnormality of the nervous system	9254	CACNA2D2	OMIM:618501
HP:0000707	Abnormality of the nervous system	255928	SYT14	OMIM:614229
HP:0000707	Abnormality of the nervous system	60481	ELOVL5	OMIM:615957
HP:0000707	Abnormality of the nervous system	5582	PRKCG	ORPHA:98763
HP:0000707	Abnormality of the nervous system	3708	ITPR1	ORPHA:208513
HP:0000707	Abnormality of the nervous system	3708	ITPR1	OMIM:117360
HP:0000707	Abnormality of the nervous system	26047	CNTNAP2	ORPHA:163681
HP:0000707	Abnormality of the nervous system	724066	ATXN8	ORPHA:98760
HP:0000707	Abnormality of the nervous system	6315	ATXN8OS	ORPHA:98760
HP:0000707	Abnormality of the nervous system	6548	SLC9A1	OMIM:616291
HP:0000707	Abnormality of the nervous system	203068	TUBB	OMIM:156610
HP:0000707	Abnormality of the nervous system	7222	TRPC3	OMIM:616410
HP:0000707	Abnormality of the nervous system	7222	TRPC3	ORPHA:458798
HP:0000707	Abnormality of the nervous system	5859	QARS1	OMIM:615760
HP:0000707	Abnormality of the nervous system	53335	BCL11A	OMIM:617101
HP:0000707	Abnormality of the nervous system	1742	DLG4	OMIM:618793
HP:0000707	Abnormality of the nervous system	4010	LMX1B	ORPHA:495818
HP:0000707	Abnormality of the nervous system	6812	STXBP1	ORPHA:495818
HP:0000707	Abnormality of the nervous system	9409	PEX16	OMIM:614877
HP:0000707	Abnormality of the nervous system	54676	GTPBP2	OMIM:617988
HP:0000707	Abnormality of the nervous system	11261	CHP1	OMIM:618438
HP:0000707	Abnormality of the nervous system	4884	NPTX1	OMIM:620158
HP:0000707	Abnormality of the nervous system	26278	SACS	OMIM:270550
HP:0000707	Abnormality of the nervous system	1600	DAB1	ORPHA:363710
HP:0000707	Abnormality of the nervous system	8913	CACNA1G	ORPHA:458803
HP:0000707	Abnormality of the nervous system	8913	CACNA1G	OMIM:618087
HP:0000707	Abnormality of the nervous system	116228	COX20	OMIM:619054
HP:0000707	Abnormality of the nervous system	7518	XRCC4	OMIM:616541
HP:0000707	Abnormality of the nervous system	23203	PMPCA	OMIM:213200
HP:0000707	Abnormality of the nervous system	23203	PMPCA	ORPHA:1170
HP:0000707	Abnormality of the nervous system	57410	SCYL1	ORPHA:466794
HP:0000707	Abnormality of the nervous system	57410	SCYL1	OMIM:616719
HP:0000707	Abnormality of the nervous system	54936	ADPRS	OMIM:618170
HP:0000707	Abnormality of the nervous system	27072	VPS41	OMIM:619389
HP:0000707	Abnormality of the nervous system	84188	FAR1	OMIM:616154
HP:0000707	Abnormality of the nervous system	5981	RFC1	OMIM:614575
HP:0000707	Abnormality of the nervous system	2705	GJB1	ORPHA:1175
HP:0000707	Abnormality of the nervous system	4976	OPA1	OMIM:210000
HP:0000707	Abnormality of the nervous system	267010	RNU12	ORPHA:512260
HP:0000707	Abnormality of the nervous system	10558	SPTLC1	OMIM:162400
HP:0000707	Abnormality of the nervous system	4547	MTTP	ORPHA:14
HP:0000707	Abnormality of the nervous system	9420	CYP7B1	OMIM:270800
HP:0000707	Abnormality of the nervous system	5428	POLG	OMIM:157640
HP:0000707	Abnormality of the nervous system	5428	POLG	OMIM:607459
HP:0000707	Abnormality of the nervous system	5428	POLG	OMIM:258450
HP:0000707	Abnormality of the nervous system	5428	POLG	ORPHA:70595
HP:0000707	Abnormality of the nervous system	10397	NDRG1	OMIM:601455
HP:0000707	Abnormality of the nervous system	56652	TWNK	OMIM:607459
HP:0000707	Abnormality of the nervous system	56652	TWNK	ORPHA:70595
HP:0000707	Abnormality of the nervous system	55703	POLR3B	OMIM:619742
HP:0000707	Abnormality of the nervous system	547	KIF1A	OMIM:614213
HP:0000707	Abnormality of the nervous system	22880	MORC2	OMIM:616688
HP:0000707	Abnormality of the nervous system	7515	XRCC1	OMIM:617633
HP:0000707	Abnormality of the nervous system	55775	TDP1	OMIM:607250
HP:0000707	Abnormality of the nervous system	55775	TDP1	ORPHA:94124
HP:0000707	Abnormality of the nervous system	54332	GDAP1	ORPHA:99948
HP:0000707	Abnormality of the nervous system	54332	GDAP1	ORPHA:101097
HP:0000707	Abnormality of the nervous system	55157	DARS2	ORPHA:137898
HP:0000707	Abnormality of the nervous system	5173	PDYN	OMIM:610245
HP:0000707	Abnormality of the nervous system	26580	BSCL2	OMIM:270685
HP:0000707	Abnormality of the nervous system	11128	POLR3A	ORPHA:447896
HP:0000707	Abnormality of the nervous system	89970	RSPRY1	ORPHA:457395
HP:0000707	Abnormality of the nervous system	1806	DPYD	ORPHA:1675
HP:0000707	Abnormality of the nervous system	6872	TAF1	ORPHA:480907
HP:0000707	Abnormality of the nervous system	171023	ASXL1	ORPHA:97297
HP:0000707	Abnormality of the nervous system	79813	EHMT1	ORPHA:261652
HP:0000707	Abnormality of the nervous system	58508	KMT2C	ORPHA:261652
HP:0000707	Abnormality of the nervous system	8925	HERC1	ORPHA:457359
HP:0000707	Abnormality of the nervous system	25970	SH2B1	ORPHA:261197
HP:0000707	Abnormality of the nervous system	57492	ARID1B	OMIM:135900
HP:0000707	Abnormality of the nervous system	2892	GRIA3	ORPHA:364028
HP:0000707	Abnormality of the nervous system	23126	POGZ	ORPHA:468678
HP:0000707	Abnormality of the nervous system	57688	ZSWIM6	ORPHA:1827
HP:0000707	Abnormality of the nervous system	5727	PTCH1	OMIM:610828
HP:0000707	Abnormality of the nervous system	2260	FGFR1	OMIM:615465
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:2117
HP:0000707	Abnormality of the nervous system	84314	TMEM107	ORPHA:564
HP:0000707	Abnormality of the nervous system	26123	TCTN3	ORPHA:564
HP:0000707	Abnormality of the nervous system	79867	TCTN2	ORPHA:564
HP:0000707	Abnormality of the nervous system	80776	B9D2	ORPHA:564
HP:0000707	Abnormality of the nervous system	79600	TCTN1	ORPHA:564
HP:0000707	Abnormality of the nervous system	57096	RPGRIP1	ORPHA:564
HP:0000707	Abnormality of the nervous system	79848	CSPP1	ORPHA:564
HP:0000707	Abnormality of the nervous system	80184	CEP290	ORPHA:564
HP:0000707	Abnormality of the nervous system	51259	TMEM216	ORPHA:564
HP:0000707	Abnormality of the nervous system	57545	CC2D2A	ORPHA:564
HP:0000707	Abnormality of the nervous system	79583	TMEM231	ORPHA:564
HP:0000707	Abnormality of the nervous system	91147	TMEM67	ORPHA:564
HP:0000707	Abnormality of the nervous system	79770	TXNDC15	ORPHA:564
HP:0000707	Abnormality of the nervous system	27077	B9D1	ORPHA:564
HP:0000707	Abnormality of the nervous system	23322	RPGRIP1L	ORPHA:564
HP:0000707	Abnormality of the nervous system	54903	MKS1	ORPHA:564
HP:0000707	Abnormality of the nervous system	65062	TMEM237	ORPHA:564
HP:0000707	Abnormality of the nervous system	5885	RAD21	OMIM:614701
HP:0000707	Abnormality of the nervous system	7546	ZIC2	OMIM:609637
HP:0000707	Abnormality of the nervous system	25914	RTTN	ORPHA:468631
HP:0000707	Abnormality of the nervous system	23019	CNOT1	OMIM:618500
HP:0000707	Abnormality of the nervous system	114803	MYSM1	ORPHA:508542
HP:0000707	Abnormality of the nervous system	80347	COASY	OMIM:618266
HP:0000707	Abnormality of the nervous system	476	ATP1A1	ORPHA:564178
HP:0000707	Abnormality of the nervous system	55733	HHAT	ORPHA:1422
HP:0000707	Abnormality of the nervous system	100151683	RNU4ATAC	OMIM:210710
HP:0000707	Abnormality of the nervous system	9928	KIF14	OMIM:616258
HP:0000707	Abnormality of the nervous system	56270	WDR45B	OMIM:617977
HP:0000707	Abnormality of the nervous system	3295	HSD17B4	OMIM:261515
HP:0000707	Abnormality of the nervous system	26227	PHGDH	ORPHA:79351
HP:0000707	Abnormality of the nervous system	701	BUB1B	OMIM:257300
HP:0000707	Abnormality of the nervous system	2639	GCDH	OMIM:231670
HP:0000707	Abnormality of the nervous system	7428	VHL	ORPHA:892
HP:0000707	Abnormality of the nervous system	7428	VHL	OMIM:193300
HP:0000707	Abnormality of the nervous system	595	CCND1	ORPHA:892
HP:0000707	Abnormality of the nervous system	595	CCND1	OMIM:193300
HP:0000707	Abnormality of the nervous system	57863	CADM3	OMIM:619519
HP:0000707	Abnormality of the nervous system	55526	DHTKD1	OMIM:615025
HP:0000707	Abnormality of the nervous system	9342	SNAP29	OMIM:609528
HP:0000707	Abnormality of the nervous system	3756	KCNH1	OMIM:135500
HP:0000707	Abnormality of the nervous system	1482	NKX2-5	OMIM:225250
HP:0000707	Abnormality of the nervous system	7252	TSHB	OMIM:275100
HP:0000707	Abnormality of the nervous system	26160	IFT172	OMIM:619471
HP:0000707	Abnormality of the nervous system	953	ENTPD1	ORPHA:401810
HP:0000707	Abnormality of the nervous system	4796	TONSL	ORPHA:93357
HP:0000707	Abnormality of the nervous system	55249	YY1AP1	ORPHA:79094
HP:0000707	Abnormality of the nervous system	5010	CLDN11	OMIM:619328
HP:0000707	Abnormality of the nervous system	81614	NIPA2	ORPHA:261183
HP:0000707	Abnormality of the nervous system	79989	IFT56	OMIM:619534
HP:0000707	Abnormality of the nervous system	80311	KLHL15	OMIM:300982
HP:0000707	Abnormality of the nervous system	200734	SPRED2	OMIM:619745
HP:0000707	Abnormality of the nervous system	284252	KCTD1	OMIM:181270
HP:0000707	Abnormality of the nervous system	81624	DIAPH3	OMIM:609129
HP:0000707	Abnormality of the nervous system	1075	CTSC	OMIM:245000
HP:0000707	Abnormality of the nervous system	80267	EDEM3	OMIM:619493
HP:0000707	Abnormality of the nervous system	23309	SIN3B	ORPHA:500166
HP:0000707	Abnormality of the nervous system	205327	C2orf69	OMIM:619423
HP:0000707	Abnormality of the nervous system	3313	HSPA9	OMIM:616854
HP:0000707	Abnormality of the nervous system	4713	NDUFB7	OMIM:620135
HP:0000707	Abnormality of the nervous system	30011	SH3KBP1	OMIM:300310
HP:0000707	Abnormality of the nervous system	85446	ZFHX2	OMIM:147430
HP:0000707	Abnormality of the nervous system	9817	KEAP1	ORPHA:276399
HP:0000707	Abnormality of the nervous system	8898	MTMR2	OMIM:601382
HP:0000707	Abnormality of the nervous system	1718	DHCR24	ORPHA:35107
HP:0000707	Abnormality of the nervous system	71	ACTG1	ORPHA:2995
HP:0000707	Abnormality of the nervous system	1376	CPT2	OMIM:608836
HP:0000707	Abnormality of the nervous system	1376	CPT2	ORPHA:228308
HP:0000707	Abnormality of the nervous system	9255	AIMP1	OMIM:260600
HP:0000707	Abnormality of the nervous system	35	ACADS	OMIM:201470
HP:0000707	Abnormality of the nervous system	3425	IDUA	ORPHA:93473
HP:0000707	Abnormality of the nervous system	3425	IDUA	ORPHA:93476
HP:0000707	Abnormality of the nervous system	5264	PHYH	ORPHA:773
HP:0000707	Abnormality of the nervous system	5191	PEX7	ORPHA:773
HP:0000707	Abnormality of the nervous system	10329	RXYLT1	OMIM:615041
HP:0000707	Abnormality of the nervous system	84892	POMGNT2	OMIM:614830
HP:0000707	Abnormality of the nervous system	3561	IL2RG	OMIM:300400
HP:0000707	Abnormality of the nervous system	176	ACAN	ORPHA:435804
HP:0000707	Abnormality of the nervous system	57192	MCOLN1	ORPHA:578
HP:0000707	Abnormality of the nervous system	57192	MCOLN1	OMIM:252650
HP:0000707	Abnormality of the nervous system	1650	DDOST	ORPHA:300536
HP:0000707	Abnormality of the nervous system	6609	SMPD1	ORPHA:77293
HP:0000707	Abnormality of the nervous system	1183	CLCN4	OMIM:300114
HP:0000707	Abnormality of the nervous system	1183	CLCN4	ORPHA:485350
HP:0000707	Abnormality of the nervous system	1139	CHRNA7	ORPHA:199318
HP:0000707	Abnormality of the nervous system	1788	DNMT3A	ORPHA:404443
HP:0000707	Abnormality of the nervous system	2890	GRIA1	OMIM:619927
HP:0000707	Abnormality of the nervous system	6197	RPS6KA3	ORPHA:276630
HP:0000707	Abnormality of the nervous system	2313	FLI1	ORPHA:2308
HP:0000707	Abnormality of the nervous system	488	ATP2A2	OMIM:124200
HP:0000707	Abnormality of the nervous system	2744	GLS	OMIM:618328
HP:0000707	Abnormality of the nervous system	3643	INSR	ORPHA:769
HP:0000707	Abnormality of the nervous system	4143	MAT1A	OMIM:250850
HP:0000707	Abnormality of the nervous system	224	ALDH3A2	OMIM:270200
HP:0000707	Abnormality of the nervous system	5133	PDCD1	OMIM:126200
HP:0000707	Abnormality of the nervous system	285362	SUMF1	ORPHA:585
HP:0000707	Abnormality of the nervous system	285362	SUMF1	OMIM:272200
HP:0000707	Abnormality of the nervous system	38	ACAT1	ORPHA:134
HP:0000707	Abnormality of the nervous system	1807	DPYS	OMIM:222748
HP:0000707	Abnormality of the nervous system	5420	PODXL	ORPHA:391411
HP:0000707	Abnormality of the nervous system	1280	COL2A1	ORPHA:86820
HP:0000707	Abnormality of the nervous system	25939	SAMHD1	OMIM:612952
HP:0000707	Abnormality of the nervous system	55739	NAXD	OMIM:618321
HP:0000707	Abnormality of the nervous system	7143	TNR	OMIM:619653
HP:0000707	Abnormality of the nervous system	6821	SUOX	OMIM:272300
HP:0000707	Abnormality of the nervous system	51506	UFC1	OMIM:618076
HP:0000707	Abnormality of the nervous system	25923	ATL3	OMIM:615632
HP:0000707	Abnormality of the nervous system	8518	ELP1	ORPHA:1764
HP:0000707	Abnormality of the nervous system	19	ABCA1	OMIM:205400
HP:0000707	Abnormality of the nervous system	85358	SHANK3	OMIM:606232
HP:0000707	Abnormality of the nervous system	85358	SHANK3	ORPHA:48652
HP:0000707	Abnormality of the nervous system	7681	MKRN3	OMIM:176270
HP:0000707	Abnormality of the nervous system	3653	IPW	OMIM:176270
HP:0000707	Abnormality of the nervous system	791114	PWRN1	OMIM:176270
HP:0000707	Abnormality of the nervous system	100033413	SNORD116-1	OMIM:176270
HP:0000707	Abnormality of the nervous system	8924	HERC2	OMIM:176270
HP:0000707	Abnormality of the nervous system	145624	PWAR1	OMIM:176270
HP:0000707	Abnormality of the nervous system	23742	NPAP1	OMIM:176270
HP:0000707	Abnormality of the nervous system	338433	SNORD115-1	OMIM:176270
HP:0000707	Abnormality of the nervous system	6792	CDKL5	ORPHA:3095
HP:0000707	Abnormality of the nervous system	6792	CDKL5	ORPHA:505652
HP:0000707	Abnormality of the nervous system	22854	NTNG1	ORPHA:3095
HP:0000707	Abnormality of the nervous system	9568	GABBR2	ORPHA:3095
HP:0000707	Abnormality of the nervous system	8566	PDXK	OMIM:618511
HP:0000707	Abnormality of the nervous system	283489	CHAMP1	OMIM:616579
HP:0000707	Abnormality of the nervous system	3035	HARS1	ORPHA:488333
HP:0000707	Abnormality of the nervous system	2314	FLII	ORPHA:819
HP:0000707	Abnormality of the nervous system	10522	DEAF1	ORPHA:819
HP:0000707	Abnormality of the nervous system	8888	MCM3AP	OMIM:618124
HP:0000707	Abnormality of the nervous system	9517	SPTLC2	OMIM:613640
HP:0000707	Abnormality of the nervous system	79628	SH3TC2	ORPHA:99949
HP:0000707	Abnormality of the nervous system	3315	HSPB1	ORPHA:99940
HP:0000707	Abnormality of the nervous system	79639	TMEM53	OMIM:619727
HP:0000707	Abnormality of the nervous system	10008	KCNE3	ORPHA:681
HP:0000707	Abnormality of the nervous system	389692	MAFA	OMIM:147630
HP:0000707	Abnormality of the nervous system	3547	IGSF1	OMIM:300888
HP:0000707	Abnormality of the nervous system	2488	FSHB	ORPHA:52901
HP:0000707	Abnormality of the nervous system	1730	DIAPH2	OMIM:300511
HP:0000707	Abnormality of the nervous system	402381	SOHLH1	OMIM:617690
HP:0000707	Abnormality of the nervous system	2100	ESR2	OMIM:618187
HP:0000707	Abnormality of the nervous system	84515	MCM8	OMIM:612885
HP:0000707	Abnormality of the nervous system	317761	C14orf39	OMIM:619203
HP:0000707	Abnormality of the nervous system	3972	LHB	OMIM:228300
HP:0000707	Abnormality of the nervous system	84225	ZMYND15	OMIM:615842
HP:0000707	Abnormality of the nervous system	164045	HFM1	OMIM:615724
HP:0000707	Abnormality of the nervous system	10734	STAG3	OMIM:615723
HP:0000707	Abnormality of the nervous system	668	FOXL2	ORPHA:572333
HP:0000707	Abnormality of the nervous system	254394	MCM9	OMIM:616185
HP:0000707	Abnormality of the nervous system	4438	MSH4	OMIM:619938
HP:0000707	Abnormality of the nervous system	658	BMPR1B	OMIM:609441
HP:0000707	Abnormality of the nervous system	84733	CBX2	OMIM:613080
HP:0000707	Abnormality of the nervous system	93953	GCNA	OMIM:301077
HP:0000707	Abnormality of the nervous system	2661	GDF9	OMIM:618014
HP:0000707	Abnormality of the nervous system	4439	MSH5	OMIM:617442
HP:0000707	Abnormality of the nervous system	344018	FIGLA	OMIM:612310
HP:0000707	Abnormality of the nervous system	158401	SHOC1	OMIM:619949
HP:0000707	Abnormality of the nervous system	6845	VAMP7	ORPHA:251510
HP:0000707	Abnormality of the nervous system	4214	MAP3K1	ORPHA:251510
HP:0000707	Abnormality of the nervous system	58524	DMRT3	ORPHA:251510
HP:0000707	Abnormality of the nervous system	23414	ZFPM2	ORPHA:251510
HP:0000707	Abnormality of the nervous system	190	NR0B1	ORPHA:251510
HP:0000707	Abnormality of the nervous system	2328	FMO3	ORPHA:468726
HP:0000707	Abnormality of the nervous system	81545	FBXO38	OMIM:615575
HP:0000707	Abnormality of the nervous system	23299	BICD2	OMIM:615290
HP:0000707	Abnormality of the nervous system	5165	PDK3	OMIM:300905
HP:0000707	Abnormality of the nervous system	122622	ADSS1	ORPHA:482601
HP:0000707	Abnormality of the nervous system	11155	LDB3	ORPHA:98912
HP:0000707	Abnormality of the nervous system	4625	MYH7	ORPHA:437572
HP:0000707	Abnormality of the nervous system	2592	GALT	ORPHA:79239
HP:0000707	Abnormality of the nervous system	4692	NDN	ORPHA:177904
HP:0000707	Abnormality of the nervous system	4692	NDN	ORPHA:177901
HP:0000707	Abnormality of the nervous system	5332	PLCB4	OMIM:614669
HP:0000707	Abnormality of the nervous system	7314	UBB	ORPHA:99772
HP:0000707	Abnormality of the nervous system	57822	GRHL3	ORPHA:99772
HP:0000707	Abnormality of the nervous system	1739	DLG1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	999	CDH1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	9411	ARHGAP29	ORPHA:199306
HP:0000707	Abnormality of the nervous system	1748	DLX4	ORPHA:199306
HP:0000707	Abnormality of the nervous system	2773	GNAI3	OMIM:602483
HP:0000707	Abnormality of the nervous system	1690	COCH	OMIM:601369
HP:0000707	Abnormality of the nervous system	4437	MSH3	OMIM:617100
HP:0000707	Abnormality of the nervous system	4437	MSH3	ORPHA:480536
HP:0000707	Abnormality of the nervous system	80270	HSD3B7	ORPHA:79301
HP:0000707	Abnormality of the nervous system	4069	LYZ	OMIM:105200
HP:0000707	Abnormality of the nervous system	335	APOA1	OMIM:105200
HP:0000707	Abnormality of the nervous system	9180	OSMR	OMIM:105250
HP:0000707	Abnormality of the nervous system	767	CA8	OMIM:613227
HP:0000707	Abnormality of the nervous system	84065	TMEM222	OMIM:619470
HP:0000707	Abnormality of the nervous system	55627	SMPD4	OMIM:618622
HP:0000707	Abnormality of the nervous system	387787	LIPT2	OMIM:617668
HP:0000707	Abnormality of the nervous system	8777	MPDZ	OMIM:615219
HP:0000707	Abnormality of the nervous system	10015	PDCD6IP	OMIM:620047
HP:0000707	Abnormality of the nervous system	3832	KIF11	OMIM:152950
HP:0000707	Abnormality of the nervous system	51053	GMNN	OMIM:616835
HP:0000707	Abnormality of the nervous system	29980	DONSON	OMIM:617604
HP:0000707	Abnormality of the nervous system	29980	DONSON	OMIM:251230
HP:0000707	Abnormality of the nervous system	2992	GYG1	OMIM:616199
HP:0000707	Abnormality of the nervous system	2688	GH1	OMIM:173100
HP:0000707	Abnormality of the nervous system	2692	GHRHR	OMIM:618157
HP:0000707	Abnormality of the nervous system	9790	BMS1	ORPHA:1114
HP:0000707	Abnormality of the nervous system	3691	ITGB4	ORPHA:1114
HP:0000707	Abnormality of the nervous system	147912	SIX5	ORPHA:107
HP:0000707	Abnormality of the nervous system	6444	SGCD	ORPHA:219
HP:0000707	Abnormality of the nervous system	3868	KRT16	ORPHA:2199
HP:0000707	Abnormality of the nervous system	3857	KRT9	ORPHA:2199
HP:0000707	Abnormality of the nervous system	3848	KRT1	ORPHA:2199
HP:0000707	Abnormality of the nervous system	51422	PRKAG2	OMIM:261740
HP:0000707	Abnormality of the nervous system	708	C1QBP	OMIM:617713
HP:0000707	Abnormality of the nervous system	18	ABAT	OMIM:613163
HP:0000707	Abnormality of the nervous system	4905	NSF	OMIM:619340
HP:0000707	Abnormality of the nervous system	10695	CNPY3	OMIM:617929
HP:0000707	Abnormality of the nervous system	1802	DPH2	OMIM:620062
HP:0000707	Abnormality of the nervous system	8812	CCNK	OMIM:618147
HP:0000707	Abnormality of the nervous system	7862	BRPF1	OMIM:617333
HP:0000707	Abnormality of the nervous system	5447	POR	ORPHA:95699
HP:0000707	Abnormality of the nervous system	1303	COL12A1	ORPHA:536516
HP:0000707	Abnormality of the nervous system	9871	SEC24D	OMIM:616294
HP:0000707	Abnormality of the nervous system	23112	TNRC6B	OMIM:619243
HP:0000707	Abnormality of the nervous system	200424	TET3	OMIM:618798
HP:0000707	Abnormality of the nervous system	57231	SNX14	ORPHA:397709
HP:0000707	Abnormality of the nervous system	57231	SNX14	OMIM:616354
HP:0000707	Abnormality of the nervous system	119559	SFXN4	OMIM:615578
HP:0000707	Abnormality of the nervous system	23325	WASHC4	OMIM:615817
HP:0000707	Abnormality of the nervous system	1009	CDH11	OMIM:211380
HP:0000707	Abnormality of the nervous system	96459	FNIP1	OMIM:619705
HP:0000707	Abnormality of the nervous system	27161	AGO2	OMIM:619149
HP:0000707	Abnormality of the nervous system	2590	GALNT2	OMIM:618885
HP:0000707	Abnormality of the nervous system	7469	NELFA	ORPHA:280
HP:0000707	Abnormality of the nervous system	1501	CTNND2	ORPHA:281
HP:0000707	Abnormality of the nervous system	9037	SEMA5A	ORPHA:281
HP:0000707	Abnormality of the nervous system	4247	MGAT2	OMIM:212066
HP:0000707	Abnormality of the nervous system	29081	METTL5	OMIM:618665
HP:0000707	Abnormality of the nervous system	29081	METTL5	ORPHA:2512
HP:0000707	Abnormality of the nervous system	7030	TFE3	OMIM:301066
HP:0000707	Abnormality of the nervous system	197258	FCSK	OMIM:618324
HP:0000707	Abnormality of the nervous system	3763	KCNJ6	OMIM:614098
HP:0000707	Abnormality of the nervous system	3242	HPD	OMIM:276710
HP:0000707	Abnormality of the nervous system	3155	HMGCL	ORPHA:20
HP:0000707	Abnormality of the nervous system	51574	LARP7	OMIM:615071
HP:0000707	Abnormality of the nervous system	51574	LARP7	ORPHA:319671
HP:0000707	Abnormality of the nervous system	84894	LINGO1	OMIM:618103
HP:0000707	Abnormality of the nervous system	55628	ZNF407	OMIM:619557
HP:0000707	Abnormality of the nervous system	2664	GDI1	OMIM:300849
HP:0000707	Abnormality of the nervous system	6045	RNF2	OMIM:619460
HP:0000707	Abnormality of the nervous system	2009	EML1	OMIM:600348
HP:0000707	Abnormality of the nervous system	8452	CUL3	OMIM:619239
HP:0000707	Abnormality of the nervous system	57477	SHROOM4	ORPHA:85288
HP:0000707	Abnormality of the nervous system	10681	GNB5	ORPHA:542306
HP:0000707	Abnormality of the nervous system	84295	PHF6	OMIM:301900
HP:0000707	Abnormality of the nervous system	8242	KDM5C	ORPHA:85279
HP:0000707	Abnormality of the nervous system	8242	KDM5C	OMIM:300534
HP:0000707	Abnormality of the nervous system	23443	SLC35A3	ORPHA:370943
HP:0000707	Abnormality of the nervous system	5689	PSMB1	OMIM:620038
HP:0000707	Abnormality of the nervous system	894	CCND2	OMIM:615938
HP:0000707	Abnormality of the nervous system	10716	TBR1	OMIM:606053
HP:0000707	Abnormality of the nervous system	51199	NIN	OMIM:614851
HP:0000707	Abnormality of the nervous system	51199	NIN	ORPHA:319675
HP:0000707	Abnormality of the nervous system	10841	FTCD	ORPHA:51208
HP:0000707	Abnormality of the nervous system	79228	THOC6	ORPHA:363444
HP:0000707	Abnormality of the nervous system	10472	ZBTB18	OMIM:612337
HP:0000707	Abnormality of the nervous system	54862	CC2D1A	OMIM:608443
HP:0000707	Abnormality of the nervous system	3187	HNRNPH1	OMIM:620083
HP:0000707	Abnormality of the nervous system	51621	KLF13	OMIM:612001
HP:0000707	Abnormality of the nervous system	471	ATIC	ORPHA:250977
HP:0000707	Abnormality of the nervous system	9662	CEP135	OMIM:614673
HP:0000707	Abnormality of the nervous system	9662	CEP135	ORPHA:2512
HP:0000707	Abnormality of the nervous system	3176	HNMT	OMIM:616739
HP:0000707	Abnormality of the nervous system	7849	PAX8	ORPHA:95720
HP:0000707	Abnormality of the nervous system	7849	PAX8	ORPHA:95713
HP:0000707	Abnormality of the nervous system	7849	PAX8	ORPHA:95712
HP:0000707	Abnormality of the nervous system	7253	TSHR	ORPHA:95720
HP:0000707	Abnormality of the nervous system	7253	TSHR	ORPHA:95713
HP:0000707	Abnormality of the nervous system	5172	SLC26A4	ORPHA:95720
HP:0000707	Abnormality of the nervous system	5172	SLC26A4	ORPHA:95713
HP:0000707	Abnormality of the nervous system	63035	BCORL1	OMIM:301029
HP:0000707	Abnormality of the nervous system	6597	SMARCA4	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6659	SOX4	ORPHA:1465
HP:0000707	Abnormality of the nervous system	8289	ARID1A	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6602	SMARCD1	ORPHA:1465
HP:0000707	Abnormality of the nervous system	196528	ARID2	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6664	SOX11	ORPHA:1465
HP:0000707	Abnormality of the nervous system	2304	FOXE1	ORPHA:95713
HP:0000707	Abnormality of the nervous system	9378	NRXN1	OMIM:614325
HP:0000707	Abnormality of the nervous system	64093	SMOC1	ORPHA:1106
HP:0000707	Abnormality of the nervous system	51185	CRBN	OMIM:607417
HP:0000707	Abnormality of the nervous system	55969	RAB5IF	OMIM:616994
HP:0000707	Abnormality of the nervous system	23476	BRD4	ORPHA:199
HP:0000707	Abnormality of the nervous system	25836	NIPBL	ORPHA:199
HP:0000707	Abnormality of the nervous system	64857	PLEKHG2	OMIM:616763
HP:0000707	Abnormality of the nervous system	8936	WASF1	OMIM:618707
HP:0000707	Abnormality of the nervous system	23630	KCNE5	ORPHA:86818
HP:0000707	Abnormality of the nervous system	2182	ACSL4	ORPHA:86818
HP:0000707	Abnormality of the nervous system	9949	AMMECR1	ORPHA:86818
HP:0000707	Abnormality of the nervous system	7991	TUSC3	OMIM:611093
HP:0000707	Abnormality of the nervous system	4176	MCM7	ORPHA:2512
HP:0000707	Abnormality of the nervous system	80254	CEP63	ORPHA:2512
HP:0000707	Abnormality of the nervous system	23310	NCAPD3	ORPHA:2512
HP:0000707	Abnormality of the nervous system	23141	ANKLE2	ORPHA:2512
HP:0000707	Abnormality of the nervous system	1911	PHC1	ORPHA:2512
HP:0000707	Abnormality of the nervous system	6884	TAF13	ORPHA:2512
HP:0000707	Abnormality of the nervous system	57082	KNL1	ORPHA:2512
HP:0000707	Abnormality of the nervous system	1021	CDK6	ORPHA:2512
HP:0000707	Abnormality of the nervous system	2036	EPB41L1	OMIM:614257
HP:0000707	Abnormality of the nervous system	2821	GPI	OMIM:613470
HP:0000707	Abnormality of the nervous system	55252	ASXL2	OMIM:617190
HP:0000707	Abnormality of the nervous system	51021	MRPS16	OMIM:610498
HP:0000707	Abnormality of the nervous system	9578	CDC42BPB	OMIM:619841
HP:0000707	Abnormality of the nervous system	29998	BICRA	OMIM:619325
HP:0000707	Abnormality of the nervous system	6599	SMARCC1	OMIM:620241
HP:0000707	Abnormality of the nervous system	10229	COQ7	OMIM:616733
HP:0000707	Abnormality of the nervous system	23154	NCDN	OMIM:619373
HP:0000707	Abnormality of the nervous system	23135	KDM6B	OMIM:618505
HP:0000707	Abnormality of the nervous system	9969	MED13	OMIM:618009
HP:0000707	Abnormality of the nervous system	1105	CHD1	OMIM:617682
HP:0000707	Abnormality of the nervous system	1105	CHD1	ORPHA:529965
HP:0000707	Abnormality of the nervous system	11285	B4GALT7	OMIM:130070
HP:0000707	Abnormality of the nervous system	6909	TBX2	OMIM:618223
HP:0000707	Abnormality of the nervous system	6938	TCF12	OMIM:615314
HP:0000707	Abnormality of the nervous system	22800	RRAS2	OMIM:618624
HP:0000707	Abnormality of the nervous system	213	ALB	ORPHA:86816
HP:0000707	Abnormality of the nervous system	5184	PEPD	OMIM:170100
HP:0000707	Abnormality of the nervous system	5257	PHKB	ORPHA:79240
HP:0000707	Abnormality of the nervous system	506	ATP5F1B	OMIM:620085
HP:0000707	Abnormality of the nervous system	56160	NSMCE3	OMIM:617241
HP:0000707	Abnormality of the nervous system	27034	ACAD8	ORPHA:79159
HP:0000707	Abnormality of the nervous system	10265	IRX5	OMIM:611174
HP:0000707	Abnormality of the nervous system	3034	HAL	ORPHA:2157
HP:0000707	Abnormality of the nervous system	5238	PGM3	ORPHA:443811
HP:0000707	Abnormality of the nervous system	7174	TPP2	ORPHA:444463
HP:0000707	Abnormality of the nervous system	129685	TAF8	OMIM:619972
HP:0000707	Abnormality of the nervous system	8560	DEGS1	OMIM:618404
HP:0000707	Abnormality of the nervous system	4330	MN1	OMIM:618774
HP:0000707	Abnormality of the nervous system	497661	C18orf32	OMIM:619985
HP:0000707	Abnormality of the nervous system	26173	INTS1	OMIM:618571
HP:0000707	Abnormality of the nervous system	5167	ENPP1	ORPHA:51608
HP:0000707	Abnormality of the nervous system	368	ABCC6	ORPHA:51608
HP:0000707	Abnormality of the nervous system	5702	PSMC3	OMIM:619354
HP:0000707	Abnormality of the nervous system	57020	VPS35L	OMIM:619135
HP:0000707	Abnormality of the nervous system	5331	PLCB3	OMIM:618961
HP:0000707	Abnormality of the nervous system	9095	TBX19	OMIM:201400
HP:0000707	Abnormality of the nervous system	84133	ZNRF3	ORPHA:1501
HP:0000707	Abnormality of the nervous system	1583	CYP11A1	ORPHA:289548
HP:0000707	Abnormality of the nervous system	1583	CYP11A1	ORPHA:168558
HP:0000707	Abnormality of the nervous system	1583	CYP11A1	OMIM:613743
HP:0000707	Abnormality of the nervous system	3284	HSD3B2	ORPHA:90791
HP:0000707	Abnormality of the nervous system	4173	MCM4	OMIM:609981
HP:0000707	Abnormality of the nervous system	1586	CYP17A1	ORPHA:90793
HP:0000707	Abnormality of the nervous system	2077	ERF	OMIM:600775
HP:0000707	Abnormality of the nervous system	5626	PROP1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5626	PROP1	ORPHA:226307
HP:0000707	Abnormality of the nervous system	5626	PROP1	ORPHA:90695
HP:0000707	Abnormality of the nervous system	89884	LHX4	ORPHA:95494
HP:0000707	Abnormality of the nervous system	89884	LHX4	ORPHA:226307
HP:0000707	Abnormality of the nervous system	89884	LHX4	ORPHA:95496
HP:0000707	Abnormality of the nervous system	3170	FOXA2	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5449	POU1F1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5449	POU1F1	ORPHA:226307
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:226307
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:95496
HP:0000707	Abnormality of the nervous system	5015	OTX2	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5015	OTX2	OMIM:613986
HP:0000707	Abnormality of the nervous system	5015	OTX2	OMIM:610125
HP:0000707	Abnormality of the nervous system	6926	TBX3	OMIM:181450
HP:0000707	Abnormality of the nervous system	128674	PROKR2	ORPHA:95496
HP:0000707	Abnormality of the nervous system	55717	WDR11	ORPHA:95496
HP:0000707	Abnormality of the nervous system	6091	ROBO1	ORPHA:95496
HP:0000707	Abnormality of the nervous system	23432	GPR161	ORPHA:95496
HP:0000707	Abnormality of the nervous system	51726	DNAJB11	ORPHA:730
HP:0000707	Abnormality of the nervous system	23193	GANAB	ORPHA:730
HP:0000707	Abnormality of the nervous system	5310	PKD1	ORPHA:730
HP:0000707	Abnormality of the nervous system	5311	PKD2	ORPHA:730
HP:0000707	Abnormality of the nervous system	29880	ALG5	ORPHA:730
HP:0000707	Abnormality of the nervous system	80114	BICC1	ORPHA:730
HP:0000707	Abnormality of the nervous system	1027	CDKN1B	ORPHA:652
HP:0000707	Abnormality of the nervous system	1026	CDKN1A	ORPHA:652
HP:0000707	Abnormality of the nervous system	1031	CDKN2C	ORPHA:652
HP:0000707	Abnormality of the nervous system	10079	ATP9A	OMIM:620242
HP:0000707	Abnormality of the nervous system	80222	TARS2	OMIM:615918
HP:0000707	Abnormality of the nervous system	257	ALX3	ORPHA:391474
HP:0000707	Abnormality of the nervous system	30813	VSX1	OMIM:614195
HP:0000707	Abnormality of the nervous system	6530	SLC6A2	OMIM:604715
HP:0000707	Abnormality of the nervous system	8676	STX11	ORPHA:540
HP:0000707	Abnormality of the nervous system	201294	UNC13D	ORPHA:540
HP:0000707	Abnormality of the nervous system	6813	STXBP2	ORPHA:540
HP:0000707	Abnormality of the nervous system	57167	SALL4	ORPHA:233
HP:0000707	Abnormality of the nervous system	9935	MAFB	ORPHA:233
HP:0000707	Abnormality of the nervous system	1123	CHN1	ORPHA:233
HP:0000707	Abnormality of the nervous system	59341	TRPV4	OMIM:606071
HP:0000707	Abnormality of the nervous system	54658	UGT1A1	ORPHA:79234
HP:0000707	Abnormality of the nervous system	55901	THSD1	ORPHA:231160
HP:0000707	Abnormality of the nervous system	7049	TGFBR3	ORPHA:231160
HP:0000707	Abnormality of the nervous system	1281	COL3A1	ORPHA:231160
HP:0000707	Abnormality of the nervous system	83854	ANGPTL6	ORPHA:231160
HP:0000707	Abnormality of the nervous system	2022	ENG	ORPHA:231160
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	5155	PDGFB	ORPHA:2495
HP:0000707	Abnormality of the nervous system	84231	TRAF7	ORPHA:2495
HP:0000707	Abnormality of the nervous system	6608	SMO	ORPHA:2495
HP:0000707	Abnormality of the nervous system	207	AKT1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	5290	PIK3CA	ORPHA:2495
HP:0000707	Abnormality of the nervous system	7015	TERT	ORPHA:2495
HP:0000707	Abnormality of the nervous system	51684	SUFU	ORPHA:2495
HP:0000707	Abnormality of the nervous system	6605	SMARCE1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	3953	LEPR	OMIM:614963
HP:0000707	Abnormality of the nervous system	8022	LHX3	ORPHA:231720
HP:0000707	Abnormality of the nervous system	10525	HYOU1	OMIM:233600
HP:0000707	Abnormality of the nervous system	6772	STAT1	OMIM:613796
HP:0000707	Abnormality of the nervous system	6772	STAT1	OMIM:614892
HP:0000707	Abnormality of the nervous system	3071	NCKAP1L	OMIM:618982
HP:0000707	Abnormality of the nervous system	677814	SNORA31	OMIM:619396
HP:0000707	Abnormality of the nervous system	6341	SCO1	OMIM:619048
HP:0000707	Abnormality of the nervous system	3949	LDLR	ORPHA:391665
HP:0000707	Abnormality of the nervous system	255738	PCSK9	ORPHA:391665
HP:0000707	Abnormality of the nervous system	26119	LDLRAP1	ORPHA:391665
HP:0000707	Abnormality of the nervous system	338	APOB	ORPHA:391665
HP:0000707	Abnormality of the nervous system	64240	ABCG5	ORPHA:391665
HP:0000707	Abnormality of the nervous system	64241	ABCG8	ORPHA:391665
HP:0000707	Abnormality of the nervous system	1384	CRAT	OMIM:617917
HP:0000707	Abnormality of the nervous system	5718	PSMD12	OMIM:617516
HP:0000707	Abnormality of the nervous system	5718	PSMD12	ORPHA:529962
HP:0000707	Abnormality of the nervous system	11023	VAX1	OMIM:614402
HP:0000707	Abnormality of the nervous system	5205	ATP8B1	ORPHA:69665
HP:0000707	Abnormality of the nervous system	8647	ABCB11	ORPHA:69665
HP:0000707	Abnormality of the nervous system	5244	ABCB4	ORPHA:69665
HP:0000707	Abnormality of the nervous system	9971	NR1H4	ORPHA:69665
HP:0000707	Abnormality of the nervous system	84548	TMEM185A	ORPHA:100974
HP:0000707	Abnormality of the nervous system	7381	UQCRB	OMIM:615158
HP:0000707	Abnormality of the nervous system	10398	MYL9	OMIM:619365
HP:0000707	Abnormality of the nervous system	63908	NAPB	OMIM:620033
HP:0000707	Abnormality of the nervous system	7025	NR2F1	ORPHA:401777
HP:0000707	Abnormality of the nervous system	57465	TBC1D24	ORPHA:352582
HP:0000707	Abnormality of the nervous system	6335	SCN9A	ORPHA:33069
HP:0000707	Abnormality of the nervous system	2554	GABRA1	ORPHA:33069
HP:0000707	Abnormality of the nervous system	6324	SCN1B	ORPHA:33069
HP:0000707	Abnormality of the nervous system	57526	PCDH19	ORPHA:33069
HP:0000707	Abnormality of the nervous system	2566	GABRG2	ORPHA:33069
HP:0000707	Abnormality of the nervous system	23030	KDM4B	OMIM:619320
HP:0000707	Abnormality of the nervous system	26053	AUTS2	OMIM:615834
HP:0000707	Abnormality of the nervous system	26053	AUTS2	ORPHA:352490
HP:0000707	Abnormality of the nervous system	10664	CTCF	ORPHA:363611
HP:0000707	Abnormality of the nervous system	55690	PACS1	ORPHA:329224
HP:0000707	Abnormality of the nervous system	11011	TLK2	OMIM:618050
HP:0000707	Abnormality of the nervous system	1457	CSNK2A1	OMIM:617062
HP:0000707	Abnormality of the nervous system	57551	TAOK1	OMIM:619575
HP:0000707	Abnormality of the nervous system	10524	KAT5	OMIM:619103
HP:0000707	Abnormality of the nervous system	51319	RSRC1	OMIM:618402
HP:0000707	Abnormality of the nervous system	5977	DPF2	OMIM:618027
HP:0000707	Abnormality of the nervous system	4677	NARS1	OMIM:619091
HP:0000707	Abnormality of the nervous system	4677	NARS1	OMIM:619092
HP:0000707	Abnormality of the nervous system	149371	EXOC8	OMIM:619076
HP:0000707	Abnormality of the nervous system	55275	VPS53	OMIM:615851
HP:0000707	Abnormality of the nervous system	3778	KCNMA1	OMIM:609446
HP:0000707	Abnormality of the nervous system	1173	AP2M1	ORPHA:1942
HP:0000707	Abnormality of the nervous system	340533	NEXMIF	ORPHA:1942
HP:0000707	Abnormality of the nervous system	1106	CHD2	ORPHA:1942
HP:0000707	Abnormality of the nervous system	6529	SLC6A1	ORPHA:1942
HP:0000707	Abnormality of the nervous system	51075	TMX2	OMIM:618730
HP:0000707	Abnormality of the nervous system	84274	COQ5	OMIM:619028
HP:0000707	Abnormality of the nervous system	5833	PCYT2	OMIM:618770
HP:0000707	Abnormality of the nervous system	3658	IREB2	OMIM:618451
HP:0000707	Abnormality of the nervous system	23031	MAST3	OMIM:620115
HP:0000707	Abnormality of the nervous system	2558	GABRA5	OMIM:618559
HP:0000707	Abnormality of the nervous system	5813	PURA	ORPHA:314655
HP:0000707	Abnormality of the nervous system	7021	TFAP2B	OMIM:169100
HP:0000707	Abnormality of the nervous system	6999	TDO2	OMIM:600627
HP:0000707	Abnormality of the nervous system	1107	CHD3	OMIM:618205
HP:0000707	Abnormality of the nervous system	25792	CIZ1	ORPHA:420492
HP:0000707	Abnormality of the nervous system	1813	DRD2	ORPHA:36899
HP:0000707	Abnormality of the nervous system	23384	SPECC1L	OMIM:145420
HP:0000707	Abnormality of the nervous system	4522	MTHFD1	OMIM:617780
HP:0000707	Abnormality of the nervous system	4659	PPP1R12A	OMIM:618820
HP:0000707	Abnormality of the nervous system	22872	SEC31A	OMIM:618651
HP:0000707	Abnormality of the nervous system	6445	SGCG	ORPHA:353
HP:0000707	Abnormality of the nervous system	6442	SGCA	ORPHA:62
HP:0000707	Abnormality of the nervous system	825	CAPN3	ORPHA:267
HP:0000707	Abnormality of the nervous system	2010	EMD	ORPHA:98863
HP:0000707	Abnormality of the nervous system	50640	PNPLA8	OMIM:251950
HP:0000707	Abnormality of the nervous system	79188	TMEM43	ORPHA:98853
HP:0000707	Abnormality of the nervous system	23224	SYNE2	ORPHA:98853
HP:0000707	Abnormality of the nervous system	6559	SLC12A3	OMIM:263800
HP:0000707	Abnormality of the nervous system	6559	SLC12A3	ORPHA:358
HP:0000707	Abnormality of the nervous system	1188	CLCNKB	ORPHA:358
HP:0000707	Abnormality of the nervous system	2642	GCGR	ORPHA:438274
HP:0000707	Abnormality of the nervous system	5424	POLD1	ORPHA:447877
HP:0000707	Abnormality of the nervous system	7373	COL14A1	ORPHA:79501
HP:0000707	Abnormality of the nervous system	79719	AAGAB	ORPHA:79501
HP:0000707	Abnormality of the nervous system	9829	DNAJC6	OMIM:615528
HP:0000707	Abnormality of the nervous system	2743	GLRB	OMIM:614619
HP:0000707	Abnormality of the nervous system	5371	PML	ORPHA:520
HP:0000707	Abnormality of the nervous system	5914	RARA	ORPHA:520
HP:0000707	Abnormality of the nervous system	359948	IRF2BP2	ORPHA:520
HP:0000707	Abnormality of the nervous system	81608	FIP1L1	ORPHA:520
HP:0000707	Abnormality of the nervous system	4869	NPM1	ORPHA:520
HP:0000707	Abnormality of the nervous system	64859	NABP1	ORPHA:520
HP:0000707	Abnormality of the nervous system	6777	STAT5B	ORPHA:520
HP:0000707	Abnormality of the nervous system	4926	NUMA1	ORPHA:520
HP:0000707	Abnormality of the nervous system	7704	ZBTB16	ORPHA:520
HP:0000707	Abnormality of the nervous system	79718	TBL1XR1	ORPHA:520
HP:0000707	Abnormality of the nervous system	8910	SGCE	OMIM:159900
HP:0000707	Abnormality of the nervous system	50833	TAS2R16	OMIM:103780
HP:0000707	Abnormality of the nervous system	3356	HTR2A	OMIM:103780
HP:0000707	Abnormality of the nervous system	125	ADH1B	OMIM:103780
HP:0000707	Abnormality of the nervous system	81622	UNC93B1	ORPHA:1930
HP:0000707	Abnormality of the nervous system	148022	TICAM1	ORPHA:1930
HP:0000707	Abnormality of the nervous system	7098	TLR3	ORPHA:1930
HP:0000707	Abnormality of the nervous system	55768	NGLY1	OMIM:615273
HP:0000707	Abnormality of the nervous system	3514	IGKC	ORPHA:183675
HP:0000707	Abnormality of the nervous system	3501	IGHG2	ORPHA:183675
HP:0000707	Abnormality of the nervous system	1407	CRY1	OMIM:614163
HP:0000707	Abnormality of the nervous system	4137	MAPT	ORPHA:240094
HP:0000707	Abnormality of the nervous system	4929	NR4A2	OMIM:619911
HP:0000707	Abnormality of the nervous system	487	ATP2A1	OMIM:601003
HP:0000707	Abnormality of the nervous system	1213	CLTC	OMIM:617854
HP:0000707	Abnormality of the nervous system	4854	NOTCH3	ORPHA:136
HP:0000707	Abnormality of the nervous system	3064	HTT	ORPHA:399
HP:0000707	Abnormality of the nervous system	6515	SLC2A3	ORPHA:399
HP:0000707	Abnormality of the nervous system	1760	DMPK	ORPHA:589821
HP:0000707	Abnormality of the nervous system	7305	TYROBP	OMIM:221770
HP:0000707	Abnormality of the nervous system	2799	GNS	OMIM:252940
HP:0000707	Abnormality of the nervous system	10743	RAI1	OMIM:182290
HP:0000707	Abnormality of the nervous system	8864	PER2	OMIM:604348
HP:0000707	Abnormality of the nervous system	1453	CSNK1D	OMIM:615224
HP:0000707	Abnormality of the nervous system	8914	TIMELESS	OMIM:620015
HP:0000707	Abnormality of the nervous system	8863	PER3	OMIM:616882
HP:0000707	Abnormality of the nervous system	57680	CHD8	OMIM:615032
HP:0000707	Abnormality of the nervous system	1020	CDK5	OMIM:616342
HP:0000707	Abnormality of the nervous system	7283	TUBG1	OMIM:615412
HP:0000707	Abnormality of the nervous system	729920	CRPPA	OMIM:614643
HP:0000707	Abnormality of the nervous system	3796	KIF2A	OMIM:615411
HP:0000707	Abnormality of the nervous system	2218	FKTN	OMIM:253800
HP:0000707	Abnormality of the nervous system	2218	FKTN	OMIM:236670
HP:0000707	Abnormality of the nervous system	81693	AMN	ORPHA:35858
HP:0000707	Abnormality of the nervous system	1576	CYP3A4	OMIM:619073
HP:0000707	Abnormality of the nervous system	5251	PHEX	ORPHA:89936
HP:0000707	Abnormality of the nervous system	79879	CCDC134	OMIM:619795
HP:0000707	Abnormality of the nervous system	4604	MYBPC1	OMIM:618524
HP:0000707	Abnormality of the nervous system	2741	GLRA1	OMIM:149400
HP:0000707	Abnormality of the nervous system	6907	TBL1X	OMIM:301033
HP:0000707	Abnormality of the nervous system	5741	PTH	OMIM:146200
HP:0000707	Abnormality of the nervous system	587	BCAT2	OMIM:618850
HP:0000707	Abnormality of the nervous system	3574	IL7	OMIM:618309
HP:0000707	Abnormality of the nervous system	57107	PDSS2	OMIM:614652
HP:0000707	Abnormality of the nervous system	51083	GAL	OMIM:616461
HP:0000707	Abnormality of the nervous system	27327	TNRC6A	OMIM:618074
HP:0000707	Abnormality of the nervous system	153	ADRB1	OMIM:618591
HP:0000707	Abnormality of the nervous system	8471	IRS4	OMIM:301035
HP:0000707	Abnormality of the nervous system	1000	CDH2	OMIM:618929
HP:0000707	Abnormality of the nervous system	939	CD27	OMIM:615122
HP:0000707	Abnormality of the nervous system	490	ATP2B1	OMIM:619910
HP:0000707	Abnormality of the nervous system	5443	POMC	OMIM:609734
HP:0000707	Abnormality of the nervous system	26175	LYSET	OMIM:619345
HP:0000707	Abnormality of the nervous system	51163	DBR1	OMIM:619441
HP:0000707	Abnormality of the nervous system	10367	MICU1	OMIM:615673
HP:0000707	Abnormality of the nervous system	4781	NFIB	OMIM:618286
HP:0000707	Abnormality of the nervous system	91801	ALKBH8	OMIM:618504
HP:0000707	Abnormality of the nervous system	116519	APOA5	OMIM:145750
HP:0000707	Abnormality of the nervous system	5455	POU3F3	OMIM:618604
HP:0000707	Abnormality of the nervous system	10371	SEMA3A	OMIM:614897
HP:0000707	Abnormality of the nervous system	170825	GSX2	OMIM:618646
HP:0000707	Abnormality of the nervous system	23347	SMCHD1	ORPHA:2250
HP:0000707	Abnormality of the nervous system	347733	TUBB2B	ORPHA:467166
HP:0000707	Abnormality of the nervous system	7846	TUBA1A	ORPHA:467166
HP:0000707	Abnormality of the nervous system	11277	TREX1	ORPHA:247691
HP:0000707	Abnormality of the nervous system	2548	GAA	ORPHA:308552
HP:0000707	Abnormality of the nervous system	1053	CEBPE	OMIM:245480
HP:0000707	Abnormality of the nervous system	2048	EPHB2	OMIM:603688
HP:0000707	Abnormality of the nervous system	2130	EWSR1	ORPHA:83469
HP:0000707	Abnormality of the nervous system	54894	RNF43	ORPHA:157798
HP:0000707	Abnormality of the nervous system	3248	HPGD	ORPHA:2796
HP:0000707	Abnormality of the nervous system	6578	SLCO2A1	ORPHA:2796
HP:0000707	Abnormality of the nervous system	57562	CEP126	ORPHA:65684
HP:0000707	Abnormality of the nervous system	3067	HDC	OMIM:137580
HP:0000707	Abnormality of the nervous system	114798	SLITRK1	OMIM:137580
HP:0000707	Abnormality of the nervous system	2243	FGA	OMIM:202400
HP:0000707	Abnormality of the nervous system	2244	FGB	OMIM:202400
HP:0000707	Abnormality of the nervous system	2266	FGG	OMIM:202400
HP:0000707	Abnormality of the nervous system	50964	SOST	OMIM:269500
HP:0000707	Abnormality of the nervous system	54507	ADAMTSL4	ORPHA:1885
HP:0000707	Abnormality of the nervous system	4774	NFIA	OMIM:613735
HP:0000707	Abnormality of the nervous system	1131	CHRM3	ORPHA:2970
HP:0000707	Abnormality of the nervous system	6023	RMRP	ORPHA:175
HP:0000707	Abnormality of the nervous system	28958	COA3	OMIM:619058
HP:0000707	Abnormality of the nervous system	79868	ALG13	ORPHA:324422
HP:0000707	Abnormality of the nervous system	3423	IDS	ORPHA:217085
HP:0000707	Abnormality of the nervous system	3423	IDS	ORPHA:217093
HP:0000707	Abnormality of the nervous system	8200	GDF5	ORPHA:968
HP:0000707	Abnormality of the nervous system	8131	NPRL3	ORPHA:98820
HP:0000707	Abnormality of the nervous system	10641	NPRL2	ORPHA:98820
HP:0000707	Abnormality of the nervous system	9681	DEPDC5	ORPHA:98820
HP:0000707	Abnormality of the nervous system	9681	DEPDC5	ORPHA:98784
HP:0000707	Abnormality of the nervous system	23461	ABCA5	ORPHA:2026
HP:0000707	Abnormality of the nervous system	54840	APTX	OMIM:208920
HP:0000707	Abnormality of the nervous system	11315	PARK7	ORPHA:2828
HP:0000707	Abnormality of the nervous system	65018	PINK1	ORPHA:2828
HP:0000707	Abnormality of the nervous system	5071	PRKN	ORPHA:2828
HP:0000707	Abnormality of the nervous system	112755	STX1B	ORPHA:36387
HP:0000707	Abnormality of the nervous system	348980	HCN1	ORPHA:36387
HP:0000707	Abnormality of the nervous system	84059	ADGRV1	ORPHA:36387
HP:0000707	Abnormality of the nervous system	3735	KARS1	OMIM:619196
HP:0000707	Abnormality of the nervous system	9056	SLC7A7	ORPHA:470
HP:0000707	Abnormality of the nervous system	7157	TP53	ORPHA:2807
HP:0000707	Abnormality of the nervous system	4952	OCRL	OMIM:300555
HP:0000707	Abnormality of the nervous system	5566	PRKACA	ORPHA:189439
HP:0000707	Abnormality of the nervous system	5573	PRKAR1A	ORPHA:189439
HP:0000707	Abnormality of the nervous system	50940	PDE11A	ORPHA:189439
HP:0000707	Abnormality of the nervous system	8517	IKBKG	ORPHA:464
HP:0000707	Abnormality of the nervous system	79798	ARMC5	ORPHA:189427
HP:0000707	Abnormality of the nervous system	2778	GNAS	ORPHA:189427
HP:0000707	Abnormality of the nervous system	2778	GNAS	OMIM:612463
HP:0000707	Abnormality of the nervous system	2778	GNAS	OMIM:612462
HP:0000707	Abnormality of the nervous system	2778	GNAS	OMIM:103580
HP:0000707	Abnormality of the nervous system	1356	CP	ORPHA:48818
HP:0000707	Abnormality of the nervous system	2706	GJB2	ORPHA:494
HP:0000707	Abnormality of the nervous system	9652	SKIC3	OMIM:222470
HP:0000707	Abnormality of the nervous system	545	ATR	ORPHA:808
HP:0000707	Abnormality of the nervous system	1062	CENPE	ORPHA:808
HP:0000707	Abnormality of the nervous system	5116	PCNT	ORPHA:808
HP:0000707	Abnormality of the nervous system	5932	RBBP8	ORPHA:808
HP:0000707	Abnormality of the nervous system	79902	NUP85	ORPHA:808
HP:0000707	Abnormality of the nervous system	84126	ATRIP	ORPHA:808
HP:0000707	Abnormality of the nervous system	10293	TRAIP	ORPHA:808
HP:0000707	Abnormality of the nervous system	22995	CEP152	ORPHA:808
HP:0000707	Abnormality of the nervous system	10733	PLK4	ORPHA:808
HP:0000707	Abnormality of the nervous system	80207	OPA3	OMIM:258501
HP:0000707	Abnormality of the nervous system	9573	GDF3	ORPHA:2345
HP:0000707	Abnormality of the nervous system	4222	MEOX1	ORPHA:2345
HP:0000707	Abnormality of the nervous system	129880	BBS5	OMIM:615983
HP:0000707	Abnormality of the nervous system	166379	BBS12	OMIM:615989
HP:0000707	Abnormality of the nervous system	2245	FGD1	ORPHA:915
HP:0000707	Abnormality of the nervous system	55670	PEX26	ORPHA:912
HP:0000707	Abnormality of the nervous system	5824	PEX19	ORPHA:912
HP:0000707	Abnormality of the nervous system	8504	PEX3	ORPHA:912
HP:0000707	Abnormality of the nervous system	8799	PEX11B	ORPHA:912
HP:0000707	Abnormality of the nervous system	5830	PEX5	ORPHA:912
HP:0000707	Abnormality of the nervous system	5193	PEX12	ORPHA:912
HP:0000707	Abnormality of the nervous system	5194	PEX13	ORPHA:912
HP:0000707	Abnormality of the nervous system	5195	PEX14	ORPHA:912
HP:0000707	Abnormality of the nervous system	3075	CFH	OMIM:235400
HP:0000707	Abnormality of the nervous system	3078	CFHR1	OMIM:235400
HP:0000707	Abnormality of the nervous system	10878	CFHR3	OMIM:235400
HP:0000707	Abnormality of the nervous system	84705	GTPBP3	ORPHA:444013
HP:0000707	Abnormality of the nervous system	7507	XPA	ORPHA:910
HP:0000707	Abnormality of the nervous system	7508	XPC	ORPHA:910
HP:0000707	Abnormality of the nervous system	1643	DDB2	ORPHA:910
HP:0000707	Abnormality of the nervous system	2073	ERCC5	ORPHA:910
HP:0000707	Abnormality of the nervous system	4549	MT-RNR1	ORPHA:551
HP:0000707	Abnormality of the nervous system	4571	MT-TP	ORPHA:551
HP:0000707	Abnormality of the nervous system	6683	SPAST	ORPHA:100985
HP:0000707	Abnormality of the nervous system	10806	SDCCAG8	OMIM:615993
HP:0000707	Abnormality of the nervous system	54585	LZTFL1	OMIM:615994
HP:0000707	Abnormality of the nervous system	10102	TSFM	OMIM:610505
HP:0000707	Abnormality of the nervous system	1908	EDN3	ORPHA:661
HP:0000707	Abnormality of the nervous system	2668	GDNF	ORPHA:661
HP:0000707	Abnormality of the nervous system	627	BDNF	ORPHA:661
HP:0000707	Abnormality of the nervous system	8929	PHOX2B	ORPHA:661
HP:0000707	Abnormality of the nervous system	11235	PDCD10	ORPHA:221061
HP:0000707	Abnormality of the nervous system	83605	CCM2	ORPHA:221061
HP:0000707	Abnormality of the nervous system	889	KRIT1	ORPHA:221061
HP:0000707	Abnormality of the nervous system	54453	RIN2	ORPHA:217335
HP:0000707	Abnormality of the nervous system	2542	SLC37A4	ORPHA:79259
HP:0000707	Abnormality of the nervous system	147409	DSG4	ORPHA:573
HP:0000707	Abnormality of the nervous system	3892	KRT86	ORPHA:573
HP:0000707	Abnormality of the nervous system	3889	KRT83	ORPHA:573
HP:0000707	Abnormality of the nervous system	3887	KRT81	ORPHA:573
HP:0000707	Abnormality of the nervous system	549	AUH	OMIM:250950
HP:0000707	Abnormality of the nervous system	2717	GLA	ORPHA:324
HP:0000707	Abnormality of the nervous system	10483	SEC23B	ORPHA:201
HP:0000707	Abnormality of the nervous system	205717	USF3	ORPHA:201
HP:0000707	Abnormality of the nervous system	100144748	KLLN	ORPHA:201
HP:0000707	Abnormality of the nervous system	2632	GBE1	OMIM:263570
HP:0000707	Abnormality of the nervous system	1137	CHRNA4	ORPHA:98784
HP:0000707	Abnormality of the nervous system	1135	CHRNA2	ORPHA:98784
HP:0000707	Abnormality of the nervous system	57010	CABP4	ORPHA:98784
HP:0000707	Abnormality of the nervous system	1141	CHRNB2	ORPHA:98784
HP:0000707	Abnormality of the nervous system	1392	CRH	ORPHA:98784
HP:0000707	Abnormality of the nervous system	23395	LARS2	OMIM:615300
HP:0000707	Abnormality of the nervous system	79827	CLMP	ORPHA:2301
HP:0000707	Abnormality of the nervous system	2239	GPC4	ORPHA:2662
HP:0000707	Abnormality of the nervous system	151516	ASPRV1	ORPHA:313
HP:0000707	Abnormality of the nervous system	242	ALOX12B	ORPHA:313
HP:0000707	Abnormality of the nervous system	126410	CYP4F22	ORPHA:313
HP:0000707	Abnormality of the nervous system	6820	SULT2B1	ORPHA:313
HP:0000707	Abnormality of the nervous system	26154	ABCA12	ORPHA:313
HP:0000707	Abnormality of the nervous system	643418	LIPN	ORPHA:313
HP:0000707	Abnormality of the nervous system	59344	ALOXE3	ORPHA:313
HP:0000707	Abnormality of the nervous system	348938	NIPAL4	ORPHA:313
HP:0000707	Abnormality of the nervous system	121214	SDR9C7	ORPHA:313
HP:0000707	Abnormality of the nervous system	7051	TGM1	ORPHA:313
HP:0000707	Abnormality of the nervous system	1756	DMD	ORPHA:98896
HP:0000707	Abnormality of the nervous system	8425	LTBP4	ORPHA:98896
HP:0000707	Abnormality of the nervous system	6697	SPR	ORPHA:70594
HP:0000707	Abnormality of the nervous system	56910	STARD7	OMIM:607876
HP:0000707	Abnormality of the nervous system	9213	XPR1	OMIM:616413
HP:0000707	Abnormality of the nervous system	4128	MAOA	ORPHA:3057
HP:0000707	Abnormality of the nervous system	10137	RBM12	OMIM:617629
HP:0000707	Abnormality of the nervous system	199221	DZIP1L	ORPHA:731
HP:0000707	Abnormality of the nervous system	5314	PKHD1	ORPHA:731
HP:0000707	Abnormality of the nervous system	2767	GNA11	ORPHA:1556
HP:0000707	Abnormality of the nervous system	151188	ARL6IP6	ORPHA:1556
HP:0000707	Abnormality of the nervous system	3920	LAMP2	OMIM:300257
HP:0000707	Abnormality of the nervous system	4621	MYH3	ORPHA:2990
HP:0000707	Abnormality of the nervous system	1146	CHRNG	ORPHA:2990
HP:0000707	Abnormality of the nervous system	23529	CLCF1	ORPHA:1545
HP:0000707	Abnormality of the nervous system	9907	AP5Z1	ORPHA:306511
HP:0000707	Abnormality of the nervous system	64221	ROBO3	ORPHA:2744
HP:0000707	Abnormality of the nervous system	284217	LAMA1	ORPHA:370022
HP:0000707	Abnormality of the nervous system	51002	TPRKB	ORPHA:2065
HP:0000707	Abnormality of the nervous system	55644	OSGEP	ORPHA:2065
HP:0000707	Abnormality of the nervous system	57122	NUP107	ORPHA:2065
HP:0000707	Abnormality of the nervous system	55746	NUP133	ORPHA:2065
HP:0000707	Abnormality of the nervous system	112858	TP53RK	ORPHA:2065
HP:0000707	Abnormality of the nervous system	8270	LAGE3	ORPHA:2065
HP:0000707	Abnormality of the nervous system	161742	SPRED1	ORPHA:137605
HP:0000707	Abnormality of the nervous system	6253	RTN2	ORPHA:100993
HP:0000707	Abnormality of the nervous system	51271	UBAP1	ORPHA:100993
HP:0000707	Abnormality of the nervous system	3839	KPNA3	ORPHA:171612
HP:0000707	Abnormality of the nervous system	9197	SLC33A1	ORPHA:171863
HP:0000707	Abnormality of the nervous system	1616	DAXX	ORPHA:100075
HP:0000707	Abnormality of the nervous system	23363	OBSL1	ORPHA:2616
HP:0000707	Abnormality of the nervous system	847	CAT	ORPHA:926
HP:0000707	Abnormality of the nervous system	147372	CCBE1	ORPHA:2136
HP:0000707	Abnormality of the nervous system	51057	WDPCP	ORPHA:1338
HP:0000707	Abnormality of the nervous system	54806	AHI1	OMIM:608629
HP:0000707	Abnormality of the nervous system	56623	INPP5E	OMIM:213300
HP:0000707	Abnormality of the nervous system	79029	AFG2B	OMIM:619616
HP:0000707	Abnormality of the nervous system	80055	PGAP1	OMIM:615802
HP:0000707	Abnormality of the nervous system	25782	RAB3GAP2	OMIM:212720
HP:0000707	Abnormality of the nervous system	22930	RAB3GAP1	OMIM:600118
HP:0000707	Abnormality of the nervous system	4361	MRE11	ORPHA:251347
HP:0000707	Abnormality of the nervous system	2271	FH	OMIM:606812
HP:0000707	Abnormality of the nervous system	9786	KIAA0586	ORPHA:397715
HP:0000707	Abnormality of the nervous system	54805	CNNM2	OMIM:616418
HP:0000707	Abnormality of the nervous system	26005	C2CD3	ORPHA:434179
HP:0000707	Abnormality of the nervous system	2200	FBN1	OMIM:616914
HP:0000707	Abnormality of the nervous system	5422	POLA1	OMIM:301030
HP:0000707	Abnormality of the nervous system	1277	COL1A1	ORPHA:1310
HP:0000707	Abnormality of the nervous system	3265	HRAS	ORPHA:2874
HP:0000707	Abnormality of the nervous system	23780	APOL2	OMIM:181500
HP:0000707	Abnormality of the nervous system	267012	DAOA	OMIM:181500
HP:0000707	Abnormality of the nervous system	6854	SYN2	OMIM:181500
HP:0000707	Abnormality of the nervous system	27184	DISC2	OMIM:181500
HP:0000707	Abnormality of the nervous system	65078	RTN4R	OMIM:181500
HP:0000707	Abnormality of the nervous system	80832	APOL4	OMIM:181500
HP:0000707	Abnormality of the nervous system	1116	CHI3L1	OMIM:181500
HP:0000707	Abnormality of the nervous system	51111	KMT5B	OMIM:617788
HP:0006988	Alobar holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0006988	Alobar holoprosencephaly	2260	FGFR1	OMIM:615465
HP:0006988	Alobar holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0006988	Alobar holoprosencephaly	10735	STAG2	OMIM:301043
HP:0006988	Alobar holoprosencephaly	23007	PLCH1	OMIM:619895
HP:0006988	Alobar holoprosencephaly	6496	SIX3	OMIM:157170
HP:0006989	Dysplastic corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0006989	Dysplastic corpus callosum	4841	NONO	ORPHA:466791
HP:0006989	Dysplastic corpus callosum	4841	NONO	OMIM:300967
HP:0006989	Dysplastic corpus callosum	9791	PTDSS1	OMIM:151050
HP:0006989	Dysplastic corpus callosum	29899	GPSM2	OMIM:604213
HP:0006989	Dysplastic corpus callosum	4001	LMNB1	OMIM:619179
HP:0006989	Dysplastic corpus callosum	6651	SON	ORPHA:500150
HP:0006989	Dysplastic corpus callosum	6651	SON	OMIM:617140
HP:0006989	Dysplastic corpus callosum	9692	PRORP	OMIM:619737
HP:0006989	Dysplastic corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0006989	Dysplastic corpus callosum	51807	TUBA8	ORPHA:250972
HP:0006989	Dysplastic corpus callosum	93627	TBCK	OMIM:616900
HP:0006989	Dysplastic corpus callosum	5361	PLXNA1	OMIM:619955
HP:0006989	Dysplastic corpus callosum	374969	SVBP	OMIM:618569
HP:0006989	Dysplastic corpus callosum	84081	NSRP1	OMIM:620001
HP:0006989	Dysplastic corpus callosum	124454	EARS2	OMIM:614924
HP:0006989	Dysplastic corpus callosum	83480	PUS3	ORPHA:488627
HP:0006989	Dysplastic corpus callosum	5286	PIK3C2A	ORPHA:557003
HP:0006989	Dysplastic corpus callosum	91647	ATPAF2	OMIM:604273
HP:0006989	Dysplastic corpus callosum	57192	MCOLN1	OMIM:252650
HP:0006989	Dysplastic corpus callosum	9786	KIAA0586	OMIM:616490
HP:0006989	Dysplastic corpus callosum	79228	THOC6	ORPHA:363444
HP:0006989	Dysplastic corpus callosum	23258	DENND5A	OMIM:617281
HP:0006989	Dysplastic corpus callosum	23309	SIN3B	ORPHA:500166
HP:0006989	Dysplastic corpus callosum	25942	SIN3A	ORPHA:500166
HP:0006989	Dysplastic corpus callosum	25942	SIN3A	OMIM:613406
HP:0006989	Dysplastic corpus callosum	10524	KAT5	OMIM:619103
HP:0006989	Dysplastic corpus callosum	205327	C2orf69	OMIM:619423
HP:0006989	Dysplastic corpus callosum	22978	NT5C2	OMIM:613162
HP:0006989	Dysplastic corpus callosum	5283	PIGH	OMIM:618010
HP:0006989	Dysplastic corpus callosum	23287	AGTPBP1	OMIM:618276
HP:0006989	Dysplastic corpus callosum	3313	HSPA9	OMIM:616854
HP:0006989	Dysplastic corpus callosum	283989	TSEN54	ORPHA:2524
HP:0006989	Dysplastic corpus callosum	116461	TSEN15	ORPHA:2524
HP:0006989	Dysplastic corpus callosum	79042	TSEN34	ORPHA:2524
HP:0006989	Dysplastic corpus callosum	80746	TSEN2	ORPHA:2524
HP:0006989	Dysplastic corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0006989	Dysplastic corpus callosum	4953	ODC1	ORPHA:544488
HP:0006989	Dysplastic corpus callosum	25914	RTTN	OMIM:614833
HP:0006989	Dysplastic corpus callosum	55210	ATAD3A	OMIM:618810
HP:0006989	Dysplastic corpus callosum	1642	DDB1	OMIM:619426
HP:0006989	Dysplastic corpus callosum	79633	FAT4	ORPHA:314679
HP:0006989	Dysplastic corpus callosum	8642	DCHS1	ORPHA:314679
HP:0006989	Dysplastic corpus callosum	4713	NDUFB7	OMIM:620135
HP:0012400	Abnormal circulating aldolase concentration	64374	SIL1	ORPHA:559
HP:0012400	Abnormal circulating aldolase concentration	51763	INPP5K	ORPHA:559
HP:0012400	Abnormal circulating aldolase concentration	84892	POMGNT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	148789	B3GALNT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	79147	FKRP	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	29954	POMT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	9215	LARGE1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	1282	COL4A1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	729920	CRPPA	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	10329	RXYLT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	1605	DAG1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	11041	B4GAT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	10585	POMT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	84197	POMK	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	2218	FKTN	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	55624	POMGNT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	5213	PFKM	OMIM:232800
HP:0012400	Abnormal circulating aldolase concentration	23175	LPIN1	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	4512	MT-CO1	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	4514	MT-CO3	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	7040	TGFB1	ORPHA:1328
HP:0012400	Abnormal circulating aldolase concentration	3339	HSPG2	ORPHA:800
HP:0012400	Abnormal circulating aldolase concentration	226	ALDOA	ORPHA:57
HP:0012400	Abnormal circulating aldolase concentration	229	ALDOB	ORPHA:469
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	4967	OGDH	ORPHA:31
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	9488	PIGB	OMIM:618580
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	2746	GLUD1	ORPHA:35878
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	27247	NFU1	OMIM:605711
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	57465	TBC1D24	OMIM:220500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	57465	TBC1D24	ORPHA:79500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	27010	TPK1	OMIM:614458
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	1738	DLD	ORPHA:2394
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	51241	COX16	OMIM:619355
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	6390	SDHB	OMIM:619224
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	6576	SLC25A1	OMIM:615182
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	8659	ALDH4A1	ORPHA:79101
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	64849	SLC13A3	OMIM:618384
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	526	ATP6V1B2	ORPHA:79500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	10157	AASS	ORPHA:2203
HP:0012402	Increased urine alpha-ketoglutarate concentration	9488	PIGB	OMIM:618580
HP:0012402	Increased urine alpha-ketoglutarate concentration	2746	GLUD1	ORPHA:35878
HP:0012402	Increased urine alpha-ketoglutarate concentration	27247	NFU1	OMIM:605711
HP:0012402	Increased urine alpha-ketoglutarate concentration	57465	TBC1D24	OMIM:220500
HP:0012402	Increased urine alpha-ketoglutarate concentration	57465	TBC1D24	ORPHA:79500
HP:0012402	Increased urine alpha-ketoglutarate concentration	27010	TPK1	OMIM:614458
HP:0012402	Increased urine alpha-ketoglutarate concentration	1738	DLD	ORPHA:2394
HP:0012402	Increased urine alpha-ketoglutarate concentration	51241	COX16	OMIM:619355
HP:0012402	Increased urine alpha-ketoglutarate concentration	6390	SDHB	OMIM:619224
HP:0012402	Increased urine alpha-ketoglutarate concentration	6576	SLC25A1	OMIM:615182
HP:0012402	Increased urine alpha-ketoglutarate concentration	8659	ALDH4A1	ORPHA:79101
HP:0012402	Increased urine alpha-ketoglutarate concentration	64849	SLC13A3	OMIM:618384
HP:0012402	Increased urine alpha-ketoglutarate concentration	526	ATP6V1B2	ORPHA:79500
HP:0012403	Decreased urine alpha-ketoglutarate concentration	10157	AASS	ORPHA:2203
HP:0012404	Abnormal urine citrate concentration	10686	CLDN16	OMIM:248250
HP:0012405	Hypocitraturia	10686	CLDN16	OMIM:248250
HP:0012406	Hypercitraturia	10686	CLDN16	OMIM:248250
HP:0012407	Scissor gait	547	KIF1A	ORPHA:101010
HP:0012407	Scissor gait	271	AMPD2	ORPHA:401805
HP:0012407	Scissor gait	271	AMPD2	OMIM:615686
HP:0012407	Scissor gait	10159	ATP6AP2	ORPHA:363654
HP:0012407	Scissor gait	6472	SHMT2	OMIM:619121
HP:0012407	Scissor gait	25793	FBXO7	OMIM:260300
HP:0012407	Scissor gait	23516	SLC39A14	OMIM:617013
HP:0012407	Scissor gait	23516	SLC39A14	ORPHA:521406
HP:0012407	Scissor gait	23204	ARL6IP1	OMIM:615685
HP:0012407	Scissor gait	23204	ARL6IP1	ORPHA:401780
HP:0012407	Scissor gait	2074	ERCC6	OMIM:278800
HP:0012407	Scissor gait	10667	FARS2	ORPHA:466722
HP:0012408	Medullary nephrocalcinosis	10916	MAGED2	OMIM:300971
HP:0012408	Medullary nephrocalcinosis	1497	CTNS	OMIM:219800
HP:0012408	Medullary nephrocalcinosis	142680	SLC34A3	ORPHA:157215
HP:0012408	Medullary nephrocalcinosis	6569	SLC34A1	ORPHA:157215
HP:0012408	Medullary nephrocalcinosis	6569	SLC34A1	OMIM:616963
HP:0012408	Medullary nephrocalcinosis	79989	IFT56	OMIM:619534
HP:0012408	Medullary nephrocalcinosis	5442	POLRMT	OMIM:619743
HP:0012408	Medullary nephrocalcinosis	113179	ADAT3	ORPHA:363528
HP:0012408	Medullary nephrocalcinosis	8074	FGF23	OMIM:617993
HP:0012408	Medullary nephrocalcinosis	5167	ENPP1	ORPHA:51608
HP:0012408	Medullary nephrocalcinosis	5167	ENPP1	OMIM:613312
HP:0012408	Medullary nephrocalcinosis	368	ABCC6	ORPHA:51608
HP:0012408	Medullary nephrocalcinosis	1861	TOR1A	OMIM:618947
HP:0012408	Medullary nephrocalcinosis	1591	CYP24A1	OMIM:143880
HP:0012409	Cortical nephrocalcinosis	5167	ENPP1	ORPHA:51608
HP:0012409	Cortical nephrocalcinosis	368	ABCC6	ORPHA:51608
HP:0002508	Brainstem dysplasia	23322	RPGRIP1L	OMIM:611560
HP:0002508	Brainstem dysplasia	51259	TMEM216	OMIM:608091
HP:0002508	Brainstem dysplasia	56623	INPP5E	OMIM:213300
HP:0006992	Anterior basal encephalocele	257	ALX3	OMIM:136760
HP:0006994	Diffuse leukoencephalopathy	4358	MPV17	OMIM:256810
HP:0006994	Diffuse leukoencephalopathy	100147744	RNU7-1	OMIM:619487
HP:0006994	Diffuse leukoencephalopathy	4001	LMNB1	OMIM:169500
HP:0006994	Diffuse leukoencephalopathy	3980	LIG3	OMIM:619780
HP:0006999	Basal ganglia gliosis	5621	PRNP	OMIM:603218
HP:0006999	Basal ganglia gliosis	9997	SCO2	OMIM:604377
HP:0006999	Basal ganglia gliosis	9997	SCO2	ORPHA:70474
HP:0006999	Basal ganglia gliosis	4508	MT-ATP6	ORPHA:225154
HP:0006999	Basal ganglia gliosis	23636	NUP62	ORPHA:225154
HP:0006999	Basal ganglia gliosis	103	ADAR	ORPHA:225154
HP:0006999	Basal ganglia gliosis	7443	VRK1	OMIM:607596
HP:0006999	Basal ganglia gliosis	9361	LONP1	ORPHA:79243
HP:0006999	Basal ganglia gliosis	5160	PDHA1	ORPHA:79243
HP:0006999	Basal ganglia gliosis	10667	FARS2	OMIM:614946
HP:0006999	Basal ganglia gliosis	25915	NDUFAF3	ORPHA:70474
HP:0006999	Basal ganglia gliosis	4714	NDUFB8	ORPHA:70474
HP:0006999	Basal ganglia gliosis	4720	NDUFS2	ORPHA:70474
HP:0006999	Basal ganglia gliosis	6834	SURF1	ORPHA:70474
HP:0012410	Pure red cell aplasia	6135	RPL11	ORPHA:124
HP:0012410	Pure red cell aplasia	6138	RPL15	ORPHA:124
HP:0012410	Pure red cell aplasia	6229	RPS24	ORPHA:124
HP:0012410	Pure red cell aplasia	6125	RPL5	ORPHA:124
HP:0012410	Pure red cell aplasia	6204	RPS10	ORPHA:124
HP:0012410	Pure red cell aplasia	6224	RPS20	ORPHA:124
HP:0012410	Pure red cell aplasia	6165	RPL35A	ORPHA:124
HP:0012410	Pure red cell aplasia	2623	GATA1	ORPHA:124
HP:0012410	Pure red cell aplasia	6223	RPS19	ORPHA:124
HP:0012410	Pure red cell aplasia	6232	RPS27	ORPHA:124
HP:0012410	Pure red cell aplasia	6231	RPS26	ORPHA:124
HP:0012410	Pure red cell aplasia	11224	RPL35	ORPHA:124
HP:0012410	Pure red cell aplasia	6160	RPL31	ORPHA:124
HP:0012410	Pure red cell aplasia	6218	RPS17	ORPHA:124
HP:0012410	Pure red cell aplasia	6201	RPS7	ORPHA:124
HP:0012410	Pure red cell aplasia	6155	RPL27	ORPHA:124
HP:0012410	Pure red cell aplasia	6154	RPL26	ORPHA:124
HP:0012410	Pure red cell aplasia	6210	RPS15A	ORPHA:124
HP:0012410	Pure red cell aplasia	90121	TSR2	ORPHA:124
HP:0012410	Pure red cell aplasia	6141	RPL18	ORPHA:124
HP:0012410	Pure red cell aplasia	6235	RPS29	ORPHA:124
HP:0012410	Pure red cell aplasia	6234	RPS28	ORPHA:124
HP:0012410	Pure red cell aplasia	51816	ADA2	ORPHA:124
HP:0012410	Pure red cell aplasia	4860	PNP	OMIM:613179
HP:0012410	Pure red cell aplasia	2056	EPO	OMIM:617911
HP:0012410	Pure red cell aplasia	7157	TP53	OMIM:618165
HP:0012411	Premature pubarche	3284	HSD3B2	OMIM:201810
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:177904
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:177901
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:98754
HP:0012411	Premature pubarche	4692	NDN	ORPHA:177904
HP:0012411	Premature pubarche	4692	NDN	ORPHA:177901
HP:0012411	Premature pubarche	4692	NDN	ORPHA:98754
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:177904
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:177901
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:398069
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:98754
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:177904
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:177901
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:98754
HP:0012411	Premature pubarche	7681	MKRN3	OMIM:615346
HP:0012411	Premature pubarche	3290	HSD11B1	OMIM:614662
HP:0012411	Premature pubarche	6492	SIM1	ORPHA:398079
HP:0012411	Premature pubarche	128989	TANGO2	OMIM:616878
HP:0012411	Premature pubarche	4221	MEN1	ORPHA:99725
HP:0012411	Premature pubarche	9049	AIP	ORPHA:99725
HP:0012411	Premature pubarche	9060	PAPSS2	OMIM:612847
HP:0012411	Premature pubarche	1584	CYP11B1	ORPHA:90795
HP:0012412	Premature adrenarche	2887	GRB10	ORPHA:96182
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:177904
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:177901
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:98754
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:177904
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:177901
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:98754
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:177904
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:177901
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:98754
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:177904
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:177901
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:98754
HP:0012412	Premature adrenarche	7874	USP7	OMIM:616863
HP:0012412	Premature adrenarche	6492	SIM1	ORPHA:398079
HP:0012412	Premature adrenarche	3284	HSD3B2	ORPHA:90791
HP:0012412	Premature adrenarche	1584	CYP11B1	ORPHA:90795
HP:0012413	Notched primary central incisor	1802	DPH2	OMIM:620062
HP:0012415	Abnormal blood gas level	6609	SMPD1	ORPHA:77293
HP:0012415	Abnormal blood gas level	779	CACNA1S	OMIM:601887
HP:0012415	Abnormal blood gas level	779	CACNA1S	ORPHA:423
HP:0012415	Abnormal blood gas level	57190	SELENON	ORPHA:2020
HP:0012415	Abnormal blood gas level	58	ACTA1	ORPHA:2020
HP:0012415	Abnormal blood gas level	4633	MYL2	ORPHA:2020
HP:0012415	Abnormal blood gas level	3679	ITGA7	ORPHA:2020
HP:0012415	Abnormal blood gas level	7169	TPM2	ORPHA:2020
HP:0012415	Abnormal blood gas level	9200	HACD1	ORPHA:2020
HP:0012415	Abnormal blood gas level	7170	TPM3	ORPHA:2020
HP:0012415	Abnormal blood gas level	51776	MAP3K20	ORPHA:2020
HP:0012415	Abnormal blood gas level	4728	NDUFS8	OMIM:618222
HP:0012415	Abnormal blood gas level	29967	LRP12	OMIM:164310
HP:0012415	Abnormal blood gas level	6261	RYR1	ORPHA:423
HP:0012415	Abnormal blood gas level	8929	PHOX2B	OMIM:209880
HP:0012415	Abnormal blood gas level	3043	HBB	ORPHA:232
HP:0012415	Abnormal blood gas level	3043	HBB	OMIM:603903
HP:0012415	Abnormal blood gas level	3123	HLA-DRB1	ORPHA:747
HP:0012415	Abnormal blood gas level	3123	HLA-DRB1	OMIM:181000
HP:0012415	Abnormal blood gas level	2200	FBN1	ORPHA:284979
HP:0012415	Abnormal blood gas level	959	CD40LG	OMIM:308230
HP:0012415	Abnormal blood gas level	10559	SLC35A1	ORPHA:238459
HP:0012415	Abnormal blood gas level	4141	MARS1	OMIM:615486
HP:0012415	Abnormal blood gas level	6440	SFTPC	OMIM:610913
HP:0012415	Abnormal blood gas level	6440	SFTPC	ORPHA:70587
HP:0012415	Abnormal blood gas level	2022	ENG	OMIM:187300
HP:0012415	Abnormal blood gas level	23019	CNOT1	ORPHA:556955
HP:0012415	Abnormal blood gas level	1439	CSF2RB	ORPHA:264675
HP:0012415	Abnormal blood gas level	1438	CSF2RA	ORPHA:264675
HP:0012415	Abnormal blood gas level	56244	BTNL2	OMIM:612387
HP:0012415	Abnormal blood gas level	21	ABCA3	OMIM:610921
HP:0012415	Abnormal blood gas level	21	ABCA3	ORPHA:70587
HP:0012415	Abnormal blood gas level	2261	FGFR3	ORPHA:15
HP:0012415	Abnormal blood gas level	440275	EIF2AK4	ORPHA:199241
HP:0012415	Abnormal blood gas level	51651	PTRH2	ORPHA:456312
HP:0012415	Abnormal blood gas level	23414	ZFPM2	ORPHA:2140
HP:0012415	Abnormal blood gas level	9361	LONP1	ORPHA:2140
HP:0012415	Abnormal blood gas level	2627	GATA6	ORPHA:2140
HP:0012415	Abnormal blood gas level	6439	SFTPB	ORPHA:70587
HP:0012415	Abnormal blood gas level	6005	RHAG	ORPHA:71275
HP:0012415	Abnormal blood gas level	6006	RHCE	ORPHA:71275
HP:0012415	Abnormal blood gas level	6007	RHD	ORPHA:71275
HP:0012415	Abnormal blood gas level	10568	SLC34A2	ORPHA:60025
HP:0012415	Abnormal blood gas level	7080	NKX2-1	OMIM:610978
HP:0012416	Hypercapnia	779	CACNA1S	OMIM:601887
HP:0012416	Hypercapnia	779	CACNA1S	ORPHA:423
HP:0012416	Hypercapnia	57190	SELENON	ORPHA:2020
HP:0012416	Hypercapnia	58	ACTA1	ORPHA:2020
HP:0012416	Hypercapnia	4633	MYL2	ORPHA:2020
HP:0012416	Hypercapnia	3679	ITGA7	ORPHA:2020
HP:0012416	Hypercapnia	7169	TPM2	ORPHA:2020
HP:0012416	Hypercapnia	9200	HACD1	ORPHA:2020
HP:0012416	Hypercapnia	7170	TPM3	ORPHA:2020
HP:0012416	Hypercapnia	51776	MAP3K20	ORPHA:2020
HP:0012416	Hypercapnia	4728	NDUFS8	OMIM:618222
HP:0012416	Hypercapnia	29967	LRP12	OMIM:164310
HP:0012416	Hypercapnia	6261	RYR1	ORPHA:423
HP:0012416	Hypercapnia	8929	PHOX2B	OMIM:209880
HP:0012417	Hypocapnia	6261	RYR1	ORPHA:466650
HP:0012418	Hypoxemia	3043	HBB	ORPHA:232
HP:0012418	Hypoxemia	3043	HBB	OMIM:603903
HP:0012418	Hypoxemia	8929	PHOX2B	OMIM:209880
HP:0012418	Hypoxemia	3123	HLA-DRB1	ORPHA:747
HP:0012418	Hypoxemia	3123	HLA-DRB1	OMIM:181000
HP:0012418	Hypoxemia	2200	FBN1	ORPHA:284979
HP:0012418	Hypoxemia	959	CD40LG	OMIM:308230
HP:0012418	Hypoxemia	10559	SLC35A1	ORPHA:238459
HP:0012418	Hypoxemia	4141	MARS1	OMIM:615486
HP:0012418	Hypoxemia	6440	SFTPC	OMIM:610913
HP:0012418	Hypoxemia	6440	SFTPC	ORPHA:70587
HP:0012418	Hypoxemia	2022	ENG	OMIM:187300
HP:0012418	Hypoxemia	23019	CNOT1	ORPHA:556955
HP:0012418	Hypoxemia	1439	CSF2RB	ORPHA:264675
HP:0012418	Hypoxemia	1438	CSF2RA	ORPHA:264675
HP:0012418	Hypoxemia	56244	BTNL2	OMIM:612387
HP:0012418	Hypoxemia	21	ABCA3	OMIM:610921
HP:0012418	Hypoxemia	21	ABCA3	ORPHA:70587
HP:0012418	Hypoxemia	2261	FGFR3	ORPHA:15
HP:0012418	Hypoxemia	440275	EIF2AK4	ORPHA:199241
HP:0012418	Hypoxemia	57190	SELENON	ORPHA:2020
HP:0012418	Hypoxemia	58	ACTA1	ORPHA:2020
HP:0012418	Hypoxemia	4633	MYL2	ORPHA:2020
HP:0012418	Hypoxemia	3679	ITGA7	ORPHA:2020
HP:0012418	Hypoxemia	7169	TPM2	ORPHA:2020
HP:0012418	Hypoxemia	9200	HACD1	ORPHA:2020
HP:0012418	Hypoxemia	7170	TPM3	ORPHA:2020
HP:0012418	Hypoxemia	51776	MAP3K20	ORPHA:2020
HP:0012418	Hypoxemia	51651	PTRH2	ORPHA:456312
HP:0012418	Hypoxemia	23414	ZFPM2	ORPHA:2140
HP:0012418	Hypoxemia	9361	LONP1	ORPHA:2140
HP:0012418	Hypoxemia	2627	GATA6	ORPHA:2140
HP:0012418	Hypoxemia	6439	SFTPB	ORPHA:70587
HP:0012418	Hypoxemia	6005	RHAG	ORPHA:71275
HP:0012418	Hypoxemia	6006	RHCE	ORPHA:71275
HP:0012418	Hypoxemia	6007	RHD	ORPHA:71275
HP:0012418	Hypoxemia	10568	SLC34A2	ORPHA:60025
HP:0012418	Hypoxemia	7080	NKX2-1	OMIM:610978
HP:0002200	Pseudobulbar signs	57679	ALS2	OMIM:205100
HP:0002200	Pseudobulbar signs	57679	ALS2	ORPHA:293168
HP:0002200	Pseudobulbar signs	57679	ALS2	OMIM:606353
HP:0002200	Pseudobulbar signs	57679	ALS2	ORPHA:247604
HP:0002200	Pseudobulbar signs	11160	ERLIN2	ORPHA:247604
HP:0002200	Pseudobulbar signs	83480	PUS3	ORPHA:488627
HP:0002200	Pseudobulbar signs	5654	HTRA1	OMIM:600142
HP:0002200	Pseudobulbar signs	6687	SPG7	ORPHA:35689
HP:0002200	Pseudobulbar signs	2760	GM2A	ORPHA:309246
HP:0002200	Pseudobulbar signs	122622	ADSS1	ORPHA:482601
HP:0002200	Pseudobulbar signs	1786	DNMT1	ORPHA:314404
HP:0002200	Pseudobulbar signs	443	ASPA	ORPHA:314911
HP:0002200	Pseudobulbar signs	4001	LMNB1	ORPHA:99027
HP:0002200	Pseudobulbar signs	9179	AP4M1	OMIM:612936
HP:0002200	Pseudobulbar signs	2192	FBLN1	ORPHA:404451
HP:0002200	Pseudobulbar signs	343641	TGM6	OMIM:613908
HP:0002200	Pseudobulbar signs	343641	TGM6	ORPHA:276193
HP:0002200	Pseudobulbar signs	4841	NONO	ORPHA:466791
HP:0002200	Pseudobulbar signs	5917	RARS1	OMIM:616140
HP:0002200	Pseudobulbar signs	5917	RARS1	ORPHA:438114
HP:0002200	Pseudobulbar signs	5832	ALDH18A1	OMIM:616586
HP:0002200	Pseudobulbar signs	1593	CYP27A1	OMIM:213700
HP:0002200	Pseudobulbar signs	9289	ADGRG1	ORPHA:98889
HP:0002200	Pseudobulbar signs	5297	PI4KA	ORPHA:98889
HP:0002200	Pseudobulbar signs	27286	SRPX2	ORPHA:98889
HP:0002200	Pseudobulbar signs	2583	B4GALNT1	ORPHA:101006
HP:0002200	Pseudobulbar signs	116150	NUS1	OMIM:617082
HP:0002200	Pseudobulbar signs	9896	FIG4	ORPHA:208441
HP:0002200	Pseudobulbar signs	22872	SEC31A	OMIM:618651
HP:0002200	Pseudobulbar signs	23503	ZFYVE26	ORPHA:100996
HP:0002200	Pseudobulbar signs	60	ACTB	OMIM:607371
HP:0002200	Pseudobulbar signs	6647	SOD1	OMIM:105400
HP:0002200	Pseudobulbar signs	5630	PRPH	OMIM:105400
HP:0002200	Pseudobulbar signs	1639	DCTN1	OMIM:105400
HP:0002200	Pseudobulbar signs	4744	NEFH	OMIM:105400
HP:0002200	Pseudobulbar signs	3145	HMBS	ORPHA:79276
HP:0002200	Pseudobulbar signs	4854	NOTCH3	OMIM:125310
HP:0002202	Pleural effusion	83483	PLVAP	OMIM:618183
HP:0002202	Pleural effusion	2294	FOXF1	OMIM:265380
HP:0002202	Pleural effusion	144811	LACC1	ORPHA:85414
HP:0002202	Pleural effusion	4282	MIF	ORPHA:85414
HP:0002202	Pleural effusion	3123	HLA-DRB1	ORPHA:85414
HP:0002202	Pleural effusion	3123	HLA-DRB1	ORPHA:545
HP:0002202	Pleural effusion	3123	HLA-DRB1	OMIM:181000
HP:0002202	Pleural effusion	3123	HLA-DRB1	ORPHA:797
HP:0002202	Pleural effusion	3569	IL6	ORPHA:85414
HP:0002202	Pleural effusion	51422	PRKAG2	OMIM:261740
HP:0002202	Pleural effusion	595	CCND1	ORPHA:29073
HP:0002202	Pleural effusion	8216	LZTR1	OMIM:616564
HP:0002202	Pleural effusion	3702	ITK	OMIM:613011
HP:0002202	Pleural effusion	9780	PIEZO1	OMIM:616843
HP:0002202	Pleural effusion	6016	RIT1	OMIM:615355
HP:0002202	Pleural effusion	2548	GAA	OMIM:232300
HP:0002202	Pleural effusion	25821	MTO1	OMIM:614702
HP:0002202	Pleural effusion	6775	STAT4	ORPHA:93552
HP:0002202	Pleural effusion	6775	STAT4	ORPHA:117
HP:0002202	Pleural effusion	6696	SPP1	ORPHA:93552
HP:0002202	Pleural effusion	3654	IRAK1	ORPHA:93552
HP:0002202	Pleural effusion	1776	DNASE1L3	ORPHA:36412
HP:0002202	Pleural effusion	596	BCL2	ORPHA:545
HP:0002202	Pleural effusion	3492	IGH	ORPHA:545
HP:0002202	Pleural effusion	604	BCL6	ORPHA:545
HP:0002202	Pleural effusion	1080	CFTR	OMIM:167800
HP:0002202	Pleural effusion	11330	CTRC	OMIM:167800
HP:0002202	Pleural effusion	6690	SPINK1	OMIM:167800
HP:0002202	Pleural effusion	5645	PRSS2	OMIM:167800
HP:0002202	Pleural effusion	5644	PRSS1	OMIM:167800
HP:0002202	Pleural effusion	81	ACTN4	OMIM:603278
HP:0002202	Pleural effusion	4210	MEFV	OMIM:249100
HP:0002202	Pleural effusion	4210	MEFV	ORPHA:117
HP:0002202	Pleural effusion	57169	ZNFX1	OMIM:619644
HP:0002202	Pleural effusion	2050	EPHB4	OMIM:617300
HP:0002202	Pleural effusion	2050	EPHB4	ORPHA:90186
HP:0002202	Pleural effusion	84162	BLTP1	OMIM:617822
HP:0002202	Pleural effusion	202018	TAPT1	OMIM:616897
HP:0002202	Pleural effusion	3832	KIF11	ORPHA:2526
HP:0002202	Pleural effusion	3075	CFH	ORPHA:244242
HP:0002202	Pleural effusion	3426	CFI	ORPHA:244242
HP:0002202	Pleural effusion	4179	CD46	ORPHA:244242
HP:0002202	Pleural effusion	101101692	HELLPAR	ORPHA:244242
HP:0002202	Pleural effusion	54345	SOX18	ORPHA:69735
HP:0002202	Pleural effusion	10551	AGR2	OMIM:620233
HP:0002202	Pleural effusion	8314	BAP1	ORPHA:50251
HP:0002202	Pleural effusion	64135	IFIH1	OMIM:182250
HP:0002202	Pleural effusion	2859	GPR35	ORPHA:171
HP:0002202	Pleural effusion	10507	SEMA4D	ORPHA:171
HP:0002202	Pleural effusion	4485	MST1	ORPHA:171
HP:0002202	Pleural effusion	6925	TCF4	ORPHA:171
HP:0002202	Pleural effusion	50619	DEF6	OMIM:619573
HP:0002202	Pleural effusion	11274	USP18	OMIM:617397
HP:0002202	Pleural effusion	738	VPS51	OMIM:618606
HP:0002202	Pleural effusion	56244	BTNL2	OMIM:612387
HP:0002202	Pleural effusion	56244	BTNL2	ORPHA:797
HP:0002202	Pleural effusion	2492	FSHR	ORPHA:64739
HP:0002202	Pleural effusion	147372	CCBE1	OMIM:235510
HP:0002202	Pleural effusion	1130	LYST	ORPHA:167
HP:0002202	Pleural effusion	4615	MYD88	ORPHA:33226
HP:0002202	Pleural effusion	1536	CYBB	OMIM:306400
HP:0002202	Pleural effusion	857	CAV1	OMIM:606721
HP:0002202	Pleural effusion	440275	EIF2AK4	ORPHA:199241
HP:0002202	Pleural effusion	10203	CALCRL	OMIM:618773
HP:0002202	Pleural effusion	79415	CYBC1	OMIM:618935
HP:0002202	Pleural effusion	9971	NR1H4	OMIM:617049
HP:0002202	Pleural effusion	950	SCARB2	OMIM:254900
HP:0002202	Pleural effusion	3077	HFE	OMIM:235200
HP:0002202	Pleural effusion	650	BMP2	OMIM:235200
HP:0002202	Pleural effusion	149233	IL23R	ORPHA:117
HP:0002202	Pleural effusion	3586	IL10	ORPHA:117
HP:0002202	Pleural effusion	1230	CCR1	ORPHA:117
HP:0002202	Pleural effusion	355	FAS	ORPHA:117
HP:0002202	Pleural effusion	3592	IL12A	ORPHA:117
HP:0002202	Pleural effusion	101928376	IL12A-AS1	ORPHA:117
HP:0002202	Pleural effusion	3106	HLA-B	ORPHA:117
HP:0002202	Pleural effusion	7099	TLR4	ORPHA:117
HP:0002202	Pleural effusion	3459	IFNGR1	ORPHA:117
HP:0002202	Pleural effusion	720	C4A	ORPHA:117
HP:0002202	Pleural effusion	337867	UBAC2	ORPHA:117
HP:0002202	Pleural effusion	51752	ERAP1	ORPHA:117
HP:0002202	Pleural effusion	8302	KLRC4	ORPHA:117
HP:0002202	Pleural effusion	199857	ALG14	OMIM:619036
HP:0002202	Pleural effusion	2303	FOXC2	OMIM:153400
HP:0002202	Pleural effusion	867	CBL	OMIM:613563
HP:0002202	Pleural effusion	9508	ADAMTS3	ORPHA:2136
HP:0002202	Pleural effusion	79633	FAT4	ORPHA:2136
HP:0002202	Pleural effusion	5921	RASA1	ORPHA:137667
HP:0002202	Pleural effusion	7248	TSC1	ORPHA:538
HP:0002202	Pleural effusion	7249	TSC2	ORPHA:538
HP:0002202	Pleural effusion	5604	MAP2K1	OMIM:163950
HP:0002202	Pleural effusion	5781	PTPN11	OMIM:163950
HP:0002202	Pleural effusion	673	BRAF	OMIM:163950
HP:0002203	Respiratory paralysis	210	ALAD	OMIM:612740
HP:0002203	Respiratory paralysis	6329	SCN4A	ORPHA:681
HP:0002203	Respiratory paralysis	779	CACNA1S	ORPHA:681
HP:0002203	Respiratory paralysis	779	CACNA1S	ORPHA:79102
HP:0002203	Respiratory paralysis	10008	KCNE3	ORPHA:681
HP:0002203	Respiratory paralysis	3145	HMBS	OMIM:176000
HP:0002203	Respiratory paralysis	3145	HMBS	ORPHA:79276
HP:0002203	Respiratory paralysis	5498	PPOX	ORPHA:79473
HP:0002203	Respiratory paralysis	100134444	KCNJ18	ORPHA:79102
HP:0002203	Respiratory paralysis	2556	GABRA3	ORPHA:79102
HP:0002203	Respiratory paralysis	1371	CPOX	OMIM:121300
HP:0002204	Pulmonary embolism	2658	GDF2	ORPHA:774
HP:0002204	Pulmonary embolism	94	ACVRL1	ORPHA:774
HP:0002204	Pulmonary embolism	4089	SMAD4	ORPHA:774
HP:0002204	Pulmonary embolism	2022	ENG	ORPHA:774
HP:0002204	Pulmonary embolism	875	CBS	ORPHA:394
HP:0002204	Pulmonary embolism	6005	RHAG	OMIM:185000
HP:0002204	Pulmonary embolism	2162	F13A1	OMIM:188050
HP:0002204	Pulmonary embolism	2147	F2	OMIM:188050
HP:0002204	Pulmonary embolism	3026	HABP2	OMIM:188050
HP:0002204	Pulmonary embolism	4524	MTHFR	OMIM:188050
HP:0002204	Pulmonary embolism	7056	THBD	OMIM:614486
HP:0002204	Pulmonary embolism	4352	MPL	ORPHA:729
HP:0002204	Pulmonary embolism	3717	JAK2	ORPHA:729
HP:0002204	Pulmonary embolism	54790	TET2	ORPHA:729
HP:0002204	Pulmonary embolism	25974	MMACHC	ORPHA:79282
HP:0002204	Pulmonary embolism	462	SERPINC1	OMIM:613118
HP:0002204	Pulmonary embolism	462	SERPINC1	ORPHA:82
HP:0002204	Pulmonary embolism	5624	PROC	OMIM:612304
HP:0002204	Pulmonary embolism	5624	PROC	ORPHA:745
HP:0002204	Pulmonary embolism	5624	PROC	OMIM:176860
HP:0002204	Pulmonary embolism	55109	AGGF1	ORPHA:90308
HP:0002204	Pulmonary embolism	5627	PROS1	ORPHA:743
HP:0002204	Pulmonary embolism	5627	PROS1	OMIM:614514
HP:0002204	Pulmonary embolism	5627	PROS1	OMIM:612336
HP:0002204	Pulmonary embolism	2776	GNAQ	ORPHA:624
HP:0002204	Pulmonary embolism	2776	GNAQ	ORPHA:3205
HP:0002204	Pulmonary embolism	5728	PTEN	ORPHA:744
HP:0002204	Pulmonary embolism	207	AKT1	ORPHA:744
HP:0002204	Pulmonary embolism	5277	PIGA	ORPHA:447
HP:0002204	Pulmonary embolism	5354	PLP1	ORPHA:99015
HP:0002204	Pulmonary embolism	1604	CD55	OMIM:226300
HP:0002204	Pulmonary embolism	3762	KCNJ5	OMIM:613485
HP:0002204	Pulmonary embolism	2157	F8	OMIM:301071
HP:0002204	Pulmonary embolism	149233	IL23R	ORPHA:117
HP:0002204	Pulmonary embolism	6775	STAT4	ORPHA:117
HP:0002204	Pulmonary embolism	3586	IL10	ORPHA:117
HP:0002204	Pulmonary embolism	4210	MEFV	ORPHA:117
HP:0002204	Pulmonary embolism	1230	CCR1	ORPHA:117
HP:0002204	Pulmonary embolism	355	FAS	ORPHA:117
HP:0002204	Pulmonary embolism	3592	IL12A	ORPHA:117
HP:0002204	Pulmonary embolism	101928376	IL12A-AS1	ORPHA:117
HP:0002204	Pulmonary embolism	3106	HLA-B	ORPHA:117
HP:0002204	Pulmonary embolism	7099	TLR4	ORPHA:117
HP:0002204	Pulmonary embolism	3459	IFNGR1	ORPHA:117
HP:0002204	Pulmonary embolism	720	C4A	ORPHA:117
HP:0002204	Pulmonary embolism	337867	UBAC2	ORPHA:117
HP:0002204	Pulmonary embolism	51752	ERAP1	ORPHA:117
HP:0002204	Pulmonary embolism	8302	KLRC4	ORPHA:117
HP:0002205	Recurrent respiratory infections	8367	H4C5	OMIM:619950
HP:0002205	Recurrent respiratory infections	5393	EXOSC9	OMIM:618065
HP:0002205	Recurrent respiratory infections	5631	PRPS1	ORPHA:411543
HP:0002205	Recurrent respiratory infections	10054	UBA2	OMIM:619959
HP:0002205	Recurrent respiratory infections	7360	UGP2	OMIM:618744
HP:0002205	Recurrent respiratory infections	128178	EDARADD	OMIM:614941
HP:0002205	Recurrent respiratory infections	1131	CHRM3	ORPHA:2970
HP:0002205	Recurrent respiratory infections	79848	CSPP1	ORPHA:397715
HP:0002205	Recurrent respiratory infections	9786	KIAA0586	ORPHA:397715
HP:0002205	Recurrent respiratory infections	5354	PLP1	ORPHA:99015
HP:0002205	Recurrent respiratory infections	249	ALPL	OMIM:241500
HP:0002205	Recurrent respiratory infections	613	BCR	ORPHA:261330
HP:0002205	Recurrent respiratory infections	1399	CRKL	ORPHA:261330
HP:0002205	Recurrent respiratory infections	5594	MAPK1	ORPHA:261330
HP:0002205	Recurrent respiratory infections	51506	UFC1	OMIM:618076
HP:0002205	Recurrent respiratory infections	283489	CHAMP1	OMIM:616579
HP:0002205	Recurrent respiratory infections	25782	RAB3GAP2	OMIM:212720
HP:0002205	Recurrent respiratory infections	5818	NECTIN1	ORPHA:3253
HP:0002205	Recurrent respiratory infections	55768	NGLY1	ORPHA:404454
HP:0002205	Recurrent respiratory infections	55768	NGLY1	OMIM:615273
HP:0002205	Recurrent respiratory infections	51360	MBTPS2	ORPHA:2273
HP:0002205	Recurrent respiratory infections	6772	STAT1	OMIM:614162
HP:0002205	Recurrent respiratory infections	57492	ARID1B	OMIM:135900
HP:0002205	Recurrent respiratory infections	284058	KANSL1	ORPHA:363958
HP:0002205	Recurrent respiratory infections	284058	KANSL1	ORPHA:363965
HP:0002205	Recurrent respiratory infections	6261	RYR1	OMIM:255320
HP:0002205	Recurrent respiratory infections	6261	RYR1	ORPHA:424107
HP:0002205	Recurrent respiratory infections	6261	RYR1	ORPHA:98905
HP:0002205	Recurrent respiratory infections	9326	ZNHIT3	ORPHA:2836
HP:0002205	Recurrent respiratory infections	547	KIF1A	ORPHA:2836
HP:0002205	Recurrent respiratory infections	340061	STING1	OMIM:615934
HP:0002205	Recurrent respiratory infections	64359	NXN	ORPHA:1507
HP:0002205	Recurrent respiratory infections	4920	ROR2	ORPHA:1507
HP:0002205	Recurrent respiratory infections	1130	LYST	ORPHA:167
HP:0002205	Recurrent respiratory infections	1130	LYST	ORPHA:352723
HP:0002205	Recurrent respiratory infections	100303755	PET117	OMIM:619063
HP:0002205	Recurrent respiratory infections	171023	ASXL1	ORPHA:97297
HP:0002205	Recurrent respiratory infections	10815	CPLX1	ORPHA:280
HP:0002205	Recurrent respiratory infections	54872	PIGG	ORPHA:280
HP:0002205	Recurrent respiratory infections	7469	NELFA	ORPHA:280
HP:0002205	Recurrent respiratory infections	1487	CTBP1	ORPHA:280
HP:0002205	Recurrent respiratory infections	3954	LETM1	ORPHA:280
HP:0002205	Recurrent respiratory infections	7468	NSD2	ORPHA:280
HP:0002205	Recurrent respiratory infections	57190	SELENON	ORPHA:2020
HP:0002205	Recurrent respiratory infections	58	ACTA1	ORPHA:2020
HP:0002205	Recurrent respiratory infections	4633	MYL2	ORPHA:2020
HP:0002205	Recurrent respiratory infections	3679	ITGA7	ORPHA:2020
HP:0002205	Recurrent respiratory infections	7169	TPM2	ORPHA:2020
HP:0002205	Recurrent respiratory infections	9200	HACD1	ORPHA:2020
HP:0002205	Recurrent respiratory infections	7170	TPM3	ORPHA:2020
HP:0002205	Recurrent respiratory infections	51776	MAP3K20	ORPHA:2020
HP:0002205	Recurrent respiratory infections	567	B2M	OMIM:241600
HP:0002205	Recurrent respiratory infections	28755	TRAC	OMIM:615387
HP:0002205	Recurrent respiratory infections	79813	EHMT1	OMIM:610253
HP:0002205	Recurrent respiratory infections	3070	HELLS	ORPHA:2268
HP:0002205	Recurrent respiratory infections	1789	DNMT3B	ORPHA:2268
HP:0002205	Recurrent respiratory infections	83879	CDCA7	ORPHA:2268
HP:0002205	Recurrent respiratory infections	9841	ZBTB24	ORPHA:2268
HP:0002205	Recurrent respiratory infections	2752	GLUL	OMIM:610015
HP:0002205	Recurrent respiratory infections	3425	IDUA	OMIM:607014
HP:0002205	Recurrent respiratory infections	3425	IDUA	OMIM:607015
HP:0002205	Recurrent respiratory infections	3425	IDUA	ORPHA:93473
HP:0002205	Recurrent respiratory infections	175	AGA	ORPHA:93
HP:0002205	Recurrent respiratory infections	175	AGA	OMIM:208400
HP:0002205	Recurrent respiratory infections	4853	NOTCH2	ORPHA:955
HP:0002205	Recurrent respiratory infections	113278	SLC52A3	OMIM:211530
HP:0002205	Recurrent respiratory infections	7092	TLL1	ORPHA:99106
HP:0002205	Recurrent respiratory infections	4534	MTM1	ORPHA:596
HP:0002205	Recurrent respiratory infections	330	BIRC3	ORPHA:52417
HP:0002205	Recurrent respiratory infections	27086	FOXP1	ORPHA:52417
HP:0002205	Recurrent respiratory infections	3492	IGH	ORPHA:52417
HP:0002205	Recurrent respiratory infections	8915	BCL10	ORPHA:52417
HP:0002205	Recurrent respiratory infections	10043	TOM1	OMIM:619510
HP:0002205	Recurrent respiratory infections	57217	TTC7A	OMIM:243150
HP:0002205	Recurrent respiratory infections	55773	TBC1D23	OMIM:617695
HP:0002205	Recurrent respiratory infections	9508	ADAMTS3	ORPHA:2136
HP:0002205	Recurrent respiratory infections	147372	CCBE1	ORPHA:2136
HP:0002205	Recurrent respiratory infections	79633	FAT4	ORPHA:2136
HP:0002205	Recurrent respiratory infections	6804	STX1A	ORPHA:904
HP:0002205	Recurrent respiratory infections	6804	STX1A	ORPHA:586
HP:0002205	Recurrent respiratory infections	7461	CLIP2	ORPHA:904
HP:0002205	Recurrent respiratory infections	84277	DNAJC30	ORPHA:904
HP:0002205	Recurrent respiratory infections	8468	FKBP6	ORPHA:904
HP:0002205	Recurrent respiratory infections	5982	RFC2	ORPHA:904
HP:0002205	Recurrent respiratory infections	2969	GTF2I	ORPHA:904
HP:0002205	Recurrent respiratory infections	3984	LIMK1	ORPHA:904
HP:0002205	Recurrent respiratory infections	9569	GTF2IRD1	ORPHA:904
HP:0002205	Recurrent respiratory infections	155382	VPS37D	ORPHA:904
HP:0002205	Recurrent respiratory infections	155368	METTL27	ORPHA:904
HP:0002205	Recurrent respiratory infections	114049	BUD23	ORPHA:904
HP:0002205	Recurrent respiratory infections	7458	EIF4H	ORPHA:904
HP:0002205	Recurrent respiratory infections	84163	GTF2IRD2	ORPHA:904
HP:0002205	Recurrent respiratory infections	9275	BCL7B	ORPHA:904
HP:0002205	Recurrent respiratory infections	26608	TBL2	ORPHA:904
HP:0002205	Recurrent respiratory infections	135886	TMEM270	ORPHA:904
HP:0002205	Recurrent respiratory infections	51085	MLXIPL	ORPHA:904
HP:0002205	Recurrent respiratory infections	9031	BAZ1B	ORPHA:904
HP:0002205	Recurrent respiratory infections	7456	WIPF1	ORPHA:906
HP:0002205	Recurrent respiratory infections	8364	H4C3	OMIM:619758
HP:0002205	Recurrent respiratory infections	3115	HLA-DPB1	ORPHA:900
HP:0002205	Recurrent respiratory infections	5657	PRTN3	ORPHA:900
HP:0002205	Recurrent respiratory infections	3113	HLA-DPA1	ORPHA:900
HP:0002205	Recurrent respiratory infections	11128	POLR3A	OMIM:264090
HP:0002205	Recurrent respiratory infections	3675	ITGA3	OMIM:614748
HP:0002205	Recurrent respiratory infections	8085	KMT2D	OMIM:620186
HP:0002205	Recurrent respiratory infections	415	ARSL	ORPHA:79345
HP:0002205	Recurrent respiratory infections	6609	SMPD1	OMIM:257200
HP:0002205	Recurrent respiratory infections	6609	SMPD1	OMIM:607616
HP:0002205	Recurrent respiratory infections	2624	GATA2	ORPHA:3226
HP:0002205	Recurrent respiratory infections	2990	GUSB	ORPHA:584
HP:0002205	Recurrent respiratory infections	2947	GSTM3	ORPHA:586
HP:0002205	Recurrent respiratory infections	2729	GCLC	ORPHA:586
HP:0002205	Recurrent respiratory infections	1084	CEACAM3	ORPHA:586
HP:0002205	Recurrent respiratory infections	6556	SLC11A1	ORPHA:586
HP:0002205	Recurrent respiratory infections	51164	DCTN4	ORPHA:586
HP:0002205	Recurrent respiratory infections	3783	KCNN4	ORPHA:586
HP:0002205	Recurrent respiratory infections	4282	MIF	ORPHA:586
HP:0002205	Recurrent respiratory infections	1909	EDNRA	ORPHA:586
HP:0002205	Recurrent respiratory infections	6550	SLC9A3	ORPHA:586
HP:0002205	Recurrent respiratory infections	3162	HMOX1	ORPHA:586
HP:0002205	Recurrent respiratory infections	115019	SLC26A9	ORPHA:586
HP:0002205	Recurrent respiratory infections	3077	HFE	ORPHA:586
HP:0002205	Recurrent respiratory infections	11254	SLC6A14	ORPHA:586
HP:0002205	Recurrent respiratory infections	5265	SERPINA1	ORPHA:586
HP:0002205	Recurrent respiratory infections	22802	CLCA4	ORPHA:586
HP:0002205	Recurrent respiratory infections	4680	CEACAM6	ORPHA:586
HP:0002205	Recurrent respiratory infections	4644	MYO5A	ORPHA:33445
HP:0002205	Recurrent respiratory infections	9321	TRIP11	OMIM:184260
HP:0002205	Recurrent respiratory infections	2316	FLNA	ORPHA:2484
HP:0002205	Recurrent respiratory infections	2316	FLNA	OMIM:309350
HP:0002205	Recurrent respiratory infections	9772	TMEM94	OMIM:618316
HP:0002205	Recurrent respiratory infections	917	CD3G	OMIM:615607
HP:0002205	Recurrent respiratory infections	9338	TCEAL1	OMIM:301094
HP:0002205	Recurrent respiratory infections	26154	ABCA12	ORPHA:457
HP:0002205	Recurrent respiratory infections	26154	ABCA12	ORPHA:313
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:98754
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177904
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177901
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177907
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:98754
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:177904
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:177901
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:98754
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	OMIM:176270
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:177904
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:177901
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:398069
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:98754
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:177904
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:177901
HP:0002205	Recurrent respiratory infections	145873	MESP2	OMIM:608681
HP:0002205	Recurrent respiratory infections	145873	MESP2	OMIM:277300
HP:0002205	Recurrent respiratory infections	57724	EPG5	OMIM:242840
HP:0002205	Recurrent respiratory infections	57724	EPG5	ORPHA:1493
HP:0002205	Recurrent respiratory infections	8242	KDM5C	OMIM:300534
HP:0002205	Recurrent respiratory infections	197258	FCSK	OMIM:618324
HP:0002205	Recurrent respiratory infections	84522	JAGN1	OMIM:616022
HP:0002205	Recurrent respiratory infections	50943	FOXP3	ORPHA:37042
HP:0002205	Recurrent respiratory infections	7994	KAT6A	OMIM:616268
HP:0002205	Recurrent respiratory infections	23219	FBXO28	OMIM:619777
HP:0002205	Recurrent respiratory infections	51322	WAC	ORPHA:466950
HP:0002205	Recurrent respiratory infections	6509	SLC1A4	ORPHA:447997
HP:0002205	Recurrent respiratory infections	2000	ELF4	OMIM:301074
HP:0002205	Recurrent respiratory infections	9742	IFT140	OMIM:266920
HP:0002205	Recurrent respiratory infections	7227	TRPS1	OMIM:190350
HP:0002205	Recurrent respiratory infections	51053	GMNN	OMIM:616835
HP:0002205	Recurrent respiratory infections	7319	UBE2A	ORPHA:163956
HP:0002205	Recurrent respiratory infections	5062	PAK2	OMIM:618458
HP:0002205	Recurrent respiratory infections	1828	DSG1	OMIM:615508
HP:0002205	Recurrent respiratory infections	79751	SLC25A22	ORPHA:1935
HP:0002205	Recurrent respiratory infections	150094	SIK1	ORPHA:1935
HP:0002205	Recurrent respiratory infections	3559	IL2RA	OMIM:606367
HP:0002205	Recurrent respiratory infections	5830	PEX5	OMIM:616716
HP:0002205	Recurrent respiratory infections	219285	SAMD9L	ORPHA:2585
HP:0002205	Recurrent respiratory infections	204	AK2	ORPHA:33355
HP:0002205	Recurrent respiratory infections	4126	MANBA	ORPHA:118
HP:0002205	Recurrent respiratory infections	1288	COL4A6	ORPHA:1018
HP:0002205	Recurrent respiratory infections	1287	COL4A5	ORPHA:1018
HP:0002205	Recurrent respiratory infections	56262	LRRC8A	ORPHA:33110
HP:0002205	Recurrent respiratory infections	89891	DYNC2I2	OMIM:615633
HP:0002205	Recurrent respiratory infections	23394	ADNP	OMIM:615873
HP:0002205	Recurrent respiratory infections	8818	DPM2	ORPHA:329178
HP:0002205	Recurrent respiratory infections	8737	RIPK1	OMIM:618108
HP:0002205	Recurrent respiratory infections	4173	MCM4	OMIM:609981
HP:0002205	Recurrent respiratory infections	113235	SLC46A1	ORPHA:90045
HP:0002205	Recurrent respiratory infections	7681	MKRN3	OMIM:176270
HP:0002205	Recurrent respiratory infections	3653	IPW	OMIM:176270
HP:0002205	Recurrent respiratory infections	791114	PWRN1	OMIM:176270
HP:0002205	Recurrent respiratory infections	100033413	SNORD116-1	OMIM:176270
HP:0002205	Recurrent respiratory infections	8924	HERC2	OMIM:176270
HP:0002205	Recurrent respiratory infections	145624	PWAR1	OMIM:176270
HP:0002205	Recurrent respiratory infections	23742	NPAP1	OMIM:176270
HP:0002205	Recurrent respiratory infections	338433	SNORD115-1	OMIM:176270
HP:0002205	Recurrent respiratory infections	1186	CLCN7	ORPHA:667
HP:0002205	Recurrent respiratory infections	29887	SNX10	ORPHA:667
HP:0002205	Recurrent respiratory infections	8600	TNFSF11	ORPHA:667
HP:0002205	Recurrent respiratory infections	3981	LIG4	OMIM:606593
HP:0002205	Recurrent respiratory infections	7372	UMPS	ORPHA:30
HP:0002205	Recurrent respiratory infections	1387	CREBBP	ORPHA:353281
HP:0002205	Recurrent respiratory infections	1387	CREBBP	ORPHA:353277
HP:0002205	Recurrent respiratory infections	57511	COG6	ORPHA:363523
HP:0002205	Recurrent respiratory infections	23114	NFASC	OMIM:618356
HP:0002205	Recurrent respiratory infections	4792	NFKBIA	OMIM:612132
HP:0002205	Recurrent respiratory infections	6606	SMN1	OMIM:253550
HP:0002205	Recurrent respiratory infections	6606	SMN1	OMIM:253300
HP:0002205	Recurrent respiratory infections	6905	TBCE	ORPHA:2323
HP:0002205	Recurrent respiratory infections	83479	DDX59	OMIM:174300
HP:0002205	Recurrent respiratory infections	6492	SIM1	ORPHA:398079
HP:0002205	Recurrent respiratory infections	5660	PSAP	ORPHA:139406
HP:0002205	Recurrent respiratory infections	2033	EP300	ORPHA:353284
HP:0002205	Recurrent respiratory infections	59067	IL21	OMIM:615767
HP:0002205	Recurrent respiratory infections	7248	TSC1	ORPHA:538
HP:0002205	Recurrent respiratory infections	7249	TSC2	ORPHA:538
HP:0002205	Recurrent respiratory infections	10683	DLL3	OMIM:277300
HP:0002205	Recurrent respiratory infections	4952	OCRL	ORPHA:534
HP:0002205	Recurrent respiratory infections	427	ASAH1	OMIM:159950
HP:0002205	Recurrent respiratory infections	10320	IKZF1	ORPHA:36426
HP:0002205	Recurrent respiratory infections	57551	TAOK1	OMIM:619575
HP:0002205	Recurrent respiratory infections	4621	MYH3	OMIM:193700
HP:0002205	Recurrent respiratory infections	3394	IRF8	OMIM:226990
HP:0002205	Recurrent respiratory infections	6335	SCN9A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	11280	SCN11A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	6336	SCN10A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	3431	SP110	ORPHA:79124
HP:0002205	Recurrent respiratory infections	55764	IFT122	OMIM:218330
HP:0002205	Recurrent respiratory infections	7703	PCGF2	OMIM:618371
HP:0002205	Recurrent respiratory infections	774	CACNA1B	OMIM:618497
HP:0002205	Recurrent respiratory infections	4478	MSN	OMIM:300988
HP:0002205	Recurrent respiratory infections	7161	TP73	OMIM:619466
HP:0002205	Recurrent respiratory infections	254428	SLC41A1	OMIM:619468
HP:0002205	Recurrent respiratory infections	51300	TIMMDC1	OMIM:618251
HP:0002205	Recurrent respiratory infections	8802	SUCLG1	ORPHA:17
HP:0002205	Recurrent respiratory infections	3560	IL2RB	OMIM:618495
HP:0002205	Recurrent respiratory infections	84818	IL17RC	ORPHA:1334
HP:0002205	Recurrent respiratory infections	64581	CLEC7A	ORPHA:1334
HP:0002205	Recurrent respiratory infections	10758	TRAF3IP2	ORPHA:1334
HP:0002205	Recurrent respiratory infections	112744	IL17F	ORPHA:1334
HP:0002205	Recurrent respiratory infections	860	RUNX2	ORPHA:1452
HP:0002205	Recurrent respiratory infections	25839	COG4	OMIM:613489
HP:0002205	Recurrent respiratory infections	8883	NAE1	OMIM:620210
HP:0002205	Recurrent respiratory infections	2313	FLI1	ORPHA:2308
HP:0002205	Recurrent respiratory infections	151516	ASPRV1	ORPHA:313
HP:0002205	Recurrent respiratory infections	242	ALOX12B	ORPHA:313
HP:0002205	Recurrent respiratory infections	126410	CYP4F22	ORPHA:313
HP:0002205	Recurrent respiratory infections	6820	SULT2B1	ORPHA:313
HP:0002205	Recurrent respiratory infections	643418	LIPN	ORPHA:313
HP:0002205	Recurrent respiratory infections	59344	ALOXE3	ORPHA:313
HP:0002205	Recurrent respiratory infections	348938	NIPAL4	ORPHA:313
HP:0002205	Recurrent respiratory infections	121214	SDR9C7	ORPHA:313
HP:0002205	Recurrent respiratory infections	7051	TGM1	ORPHA:313
HP:0002205	Recurrent respiratory infections	1075	CTSC	ORPHA:678
HP:0002205	Recurrent respiratory infections	8943	AP3D1	OMIM:617050
HP:0002205	Recurrent respiratory infections	2517	FUCA1	OMIM:230000
HP:0002205	Recurrent respiratory infections	2548	GAA	OMIM:232300
HP:0002205	Recurrent respiratory infections	84665	MYPN	ORPHA:75249
HP:0002205	Recurrent respiratory infections	2318	FLNC	ORPHA:75249
HP:0002205	Recurrent respiratory infections	7139	TNNT2	ORPHA:75249
HP:0002205	Recurrent respiratory infections	7137	TNNI3	ORPHA:75249
HP:0002205	Recurrent respiratory infections	10112	KIF20A	ORPHA:75249
HP:0002205	Recurrent respiratory infections	1836	SLC26A2	ORPHA:628
HP:0002205	Recurrent respiratory infections	3636	INPPL1	OMIM:258480
HP:0002205	Recurrent respiratory infections	3636	INPPL1	ORPHA:2746
HP:0002205	Recurrent respiratory infections	2077	ERF	OMIM:617180
HP:0002205	Recurrent respiratory infections	3845	KRAS	OMIM:614470
HP:0002205	Recurrent respiratory infections	4893	NRAS	OMIM:614470
HP:0002205	Recurrent respiratory infections	374354	NHLRC2	OMIM:618278
HP:0002205	Recurrent respiratory infections	55617	TASP1	OMIM:618950
HP:0002205	Recurrent respiratory infections	54790	TET2	OMIM:619126
HP:0002205	Recurrent respiratory infections	51124	IER3IP1	OMIM:614231
HP:0002205	Recurrent respiratory infections	57477	SHROOM4	ORPHA:85288
HP:0002205	Recurrent respiratory infections	83737	ITCH	OMIM:613385
HP:0002205	Recurrent respiratory infections	84340	GFM2	OMIM:618397
HP:0002205	Recurrent respiratory infections	10398	MYL9	OMIM:619365
HP:0002205	Recurrent respiratory infections	10293	TRAIP	OMIM:616777
HP:0002205	Recurrent respiratory infections	6911	TBX6	ORPHA:1797
HP:0002205	Recurrent respiratory infections	11005	SPINK5	OMIM:256500
HP:0002205	Recurrent respiratory infections	11005	SPINK5	ORPHA:634
HP:0002205	Recurrent respiratory infections	2890	GRIA1	OMIM:619927
HP:0002205	Recurrent respiratory infections	7297	TYK2	OMIM:611521
HP:0002205	Recurrent respiratory infections	60482	SLC5A7	ORPHA:98914
HP:0002205	Recurrent respiratory infections	4649	MYO9A	ORPHA:98914
HP:0002205	Recurrent respiratory infections	1103	CHAT	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6576	SLC25A1	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6843	VAMP1	ORPHA:98914
HP:0002205	Recurrent respiratory infections	375790	AGRN	ORPHA:98914
HP:0002205	Recurrent respiratory infections	127833	SYT2	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6572	SLC18A3	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6616	SNAP25	ORPHA:98914
HP:0002205	Recurrent respiratory infections	84433	CARD11	OMIM:615206
HP:0002205	Recurrent respiratory infections	1893	ECM1	ORPHA:530
HP:0002205	Recurrent respiratory infections	925	CD8A	OMIM:608957
HP:0002205	Recurrent respiratory infections	9895	TECPR2	ORPHA:320385
HP:0002205	Recurrent respiratory infections	4938	OAS1	OMIM:618042
HP:0002205	Recurrent respiratory infections	8651	SOCS1	OMIM:619375
HP:0002205	Recurrent respiratory infections	738	VPS51	OMIM:618606
HP:0002205	Recurrent respiratory infections	5116	PCNT	ORPHA:2637
HP:0002205	Recurrent respiratory infections	5430	POLR2A	OMIM:618603
HP:0002205	Recurrent respiratory infections	23522	KAT6B	ORPHA:3047
HP:0002205	Recurrent respiratory infections	26123	TCTN3	ORPHA:2753
HP:0002205	Recurrent respiratory infections	9897	WASHC5	ORPHA:7
HP:0002205	Recurrent respiratory infections	28952	CCDC22	ORPHA:7
HP:0002205	Recurrent respiratory infections	4204	MECP2	OMIM:300260
HP:0002205	Recurrent respiratory infections	129285	PPP1R21	OMIM:619383
HP:0002205	Recurrent respiratory infections	80169	CTC1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	26277	TINF2	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55651	NHP2	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55135	WRAP53	ORPHA:1775
HP:0002205	Recurrent respiratory infections	51750	RTEL1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	4869	NPM1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7012	TERC	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55505	NOP10	ORPHA:1775
HP:0002205	Recurrent respiratory infections	5073	PARN	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7015	TERT	ORPHA:1775
HP:0002205	Recurrent respiratory infections	1736	DKC1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7298	TYMS	ORPHA:1775
HP:0002205	Recurrent respiratory infections	406932	MIR140	OMIM:618618
HP:0002205	Recurrent respiratory infections	25871	NEPRO	OMIM:618853
HP:0002205	Recurrent respiratory infections	9325	TRIP4	ORPHA:486815
HP:0002205	Recurrent respiratory infections	7454	WAS	OMIM:301000
HP:0002205	Recurrent respiratory infections	695	BTK	OMIM:300755
HP:0002205	Recurrent respiratory infections	1291	COL6A1	OMIM:254090
HP:0002205	Recurrent respiratory infections	1292	COL6A2	OMIM:254090
HP:0002205	Recurrent respiratory infections	1293	COL6A3	OMIM:254090
HP:0002205	Recurrent respiratory infections	10664	CTCF	ORPHA:363611
HP:0002205	Recurrent respiratory infections	29775	CARD10	OMIM:619632
HP:0002205	Recurrent respiratory infections	6340	SCNN1G	ORPHA:60033
HP:0002205	Recurrent respiratory infections	6337	SCNN1A	ORPHA:60033
HP:0002205	Recurrent respiratory infections	6338	SCNN1B	ORPHA:60033
HP:0002205	Recurrent respiratory infections	213	ALB	OMIM:616000
HP:0002205	Recurrent respiratory infections	213	ALB	ORPHA:86816
HP:0002205	Recurrent respiratory infections	4261	CIITA	OMIM:209920
HP:0002205	Recurrent respiratory infections	5994	RFXAP	OMIM:209920
HP:0002205	Recurrent respiratory infections	5993	RFX5	OMIM:209920
HP:0002205	Recurrent respiratory infections	8625	RFXANK	OMIM:209920
HP:0002205	Recurrent respiratory infections	1305	COL13A1	OMIM:616720
HP:0002205	Recurrent respiratory infections	5295	PIK3R1	OMIM:616005
HP:0002205	Recurrent respiratory infections	4860	PNP	OMIM:613179
HP:0002205	Recurrent respiratory infections	79912	PYROXD1	OMIM:617258
HP:0002205	Recurrent respiratory infections	5580	PRKCD	OMIM:615559
HP:0002205	Recurrent respiratory infections	5880	RAC2	OMIM:618986
HP:0002205	Recurrent respiratory infections	3932	LCK	OMIM:615758
HP:0002205	Recurrent respiratory infections	8021	NUP214	OMIM:618426
HP:0002205	Recurrent respiratory infections	54440	SASH3	OMIM:301082
HP:0002205	Recurrent respiratory infections	959	CD40LG	OMIM:308230
HP:0002205	Recurrent respiratory infections	79759	ZNF668	OMIM:620194
HP:0002205	Recurrent respiratory infections	114803	MYSM1	ORPHA:508542
HP:0002205	Recurrent respiratory infections	3575	IL7R	ORPHA:169154
HP:0002205	Recurrent respiratory infections	3718	JAK3	OMIM:600802
HP:0002205	Recurrent respiratory infections	57169	ZNFX1	OMIM:619644
HP:0002205	Recurrent respiratory infections	6809	STX3	OMIM:619446
HP:0002205	Recurrent respiratory infections	1289	COL5A1	OMIM:130000
HP:0002205	Recurrent respiratory infections	11151	CORO1A	OMIM:615401
HP:0002205	Recurrent respiratory infections	8547	FCN3	OMIM:613860
HP:0002205	Recurrent respiratory infections	10525	HYOU1	OMIM:233600
HP:0002205	Recurrent respiratory infections	4780	NFE2L2	OMIM:617744
HP:0002205	Recurrent respiratory infections	472	ATM	OMIM:208900
HP:0002205	Recurrent respiratory infections	5591	PRKDC	OMIM:615966
HP:0002205	Recurrent respiratory infections	973	CD79A	OMIM:613501
HP:0002205	Recurrent respiratory infections	91869	RFT1	OMIM:612015
HP:0002205	Recurrent respiratory infections	64135	IFIH1	OMIM:615846
HP:0002205	Recurrent respiratory infections	8292	COLQ	ORPHA:98915
HP:0002205	Recurrent respiratory infections	3913	LAMB2	ORPHA:98915
HP:0002205	Recurrent respiratory infections	6662	SOX9	OMIM:114290
HP:0002205	Recurrent respiratory infections	10551	AGR2	OMIM:620233
HP:0002205	Recurrent respiratory infections	3908	LAMA2	ORPHA:258
HP:0002205	Recurrent respiratory infections	57609	DIP2B	OMIM:136630
HP:0002205	Recurrent respiratory infections	4718	NDUFC2	OMIM:619170
HP:0002205	Recurrent respiratory infections	3978	LIG1	OMIM:619774
HP:0002205	Recurrent respiratory infections	79989	IFT56	OMIM:619534
HP:0002205	Recurrent respiratory infections	2530	FUT8	OMIM:618005
HP:0002205	Recurrent respiratory infections	1493	CTLA4	OMIM:616100
HP:0002205	Recurrent respiratory infections	92579	G6PC3	OMIM:612541
HP:0002205	Recurrent respiratory infections	50628	GEMIN4	OMIM:617913
HP:0002205	Recurrent respiratory infections	5426	POLE	OMIM:615139
HP:0002205	Recurrent respiratory infections	92344	GORAB	OMIM:231070
HP:0002205	Recurrent respiratory infections	3514	IGKC	ORPHA:183675
HP:0002205	Recurrent respiratory infections	3501	IGHG2	ORPHA:183675
HP:0002205	Recurrent respiratory infections	1604	CD55	OMIM:226300
HP:0002205	Recurrent respiratory infections	7174	TPP2	OMIM:619220
HP:0002205	Recurrent respiratory infections	10892	MALT1	OMIM:615468
HP:0002205	Recurrent respiratory infections	4591	TRIM37	OMIM:253250
HP:0002205	Recurrent respiratory infections	10125	RASGRP1	OMIM:618534
HP:0002205	Recurrent respiratory infections	7407	VARS1	OMIM:617802
HP:0002205	Recurrent respiratory infections	6304	SATB1	OMIM:619229
HP:0002205	Recurrent respiratory infections	9138	ARHGEF1	OMIM:618459
HP:0002205	Recurrent respiratory infections	83483	PLVAP	OMIM:618183
HP:0002205	Recurrent respiratory infections	6448	SGSH	OMIM:252900
HP:0002205	Recurrent respiratory infections	411	ARSB	OMIM:253200
HP:0002205	Recurrent respiratory infections	57465	TBC1D24	ORPHA:352596
HP:0002205	Recurrent respiratory infections	4784	NFIX	OMIM:602535
HP:0002205	Recurrent respiratory infections	6597	SMARCA4	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6598	SMARCB1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6659	SOX4	ORPHA:1465
HP:0002205	Recurrent respiratory infections	8289	ARID1A	ORPHA:1465
HP:0002205	Recurrent respiratory infections	5977	DPF2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6601	SMARCC2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6602	SMARCD1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	196528	ARID2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6605	SMARCE1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6664	SOX11	ORPHA:1465
HP:0002205	Recurrent respiratory infections	3953	LEPR	OMIM:614963
HP:0002205	Recurrent respiratory infections	3953	LEPR	ORPHA:179494
HP:0002205	Recurrent respiratory infections	8456	FOXN1	OMIM:618806
HP:0002205	Recurrent respiratory infections	2720	GLB1	OMIM:253010
HP:0002205	Recurrent respiratory infections	3852	KRT5	OMIM:619599
HP:0002205	Recurrent respiratory infections	920	CD4	OMIM:619238
HP:0002205	Recurrent respiratory infections	3570	IL6R	OMIM:618944
HP:0002205	Recurrent respiratory infections	79803	HPS6	OMIM:614075
HP:0002205	Recurrent respiratory infections	641	BLM	OMIM:210900
HP:0002205	Recurrent respiratory infections	5340	PLG	OMIM:217090
HP:0002205	Recurrent respiratory infections	2799	GNS	OMIM:252940
HP:0002205	Recurrent respiratory infections	23247	KATNIP	OMIM:616784
HP:0002205	Recurrent respiratory infections	138050	HGSNAT	OMIM:252930
HP:0002205	Recurrent respiratory infections	2542	SLC37A4	OMIM:232240
HP:0002205	Recurrent respiratory infections	55023	PHIP	ORPHA:589905
HP:0002205	Recurrent respiratory infections	7388	UQCRH	OMIM:620137
HP:0002205	Recurrent respiratory infections	4669	NAGLU	OMIM:252920
HP:0002205	Recurrent respiratory infections	54808	DYM	ORPHA:239
HP:0002205	Recurrent respiratory infections	6595	SMARCA2	OMIM:619293
HP:0002205	Recurrent respiratory infections	3588	IL10RB	OMIM:612567
HP:0002205	Recurrent respiratory infections	3561	IL2RG	OMIM:312863
HP:0002205	Recurrent respiratory infections	974	CD79B	OMIM:612692
HP:0002205	Recurrent respiratory infections	8742	TNFSF12	ORPHA:1572
HP:0002205	Recurrent respiratory infections	931	MS4A1	ORPHA:1572
HP:0002205	Recurrent respiratory infections	975	CD81	ORPHA:1572
HP:0002205	Recurrent respiratory infections	6901	TAFAZZIN	OMIM:302060
HP:0002205	Recurrent respiratory infections	79158	GNPTAB	OMIM:252500
HP:0002205	Recurrent respiratory infections	8518	ELP1	OMIM:223900
HP:0002205	Recurrent respiratory infections	57731	SPTBN4	OMIM:617519
HP:0002205	Recurrent respiratory infections	3426	CFI	OMIM:610984
HP:0002205	Recurrent respiratory infections	51135	IRAK4	ORPHA:70592
HP:0002205	Recurrent respiratory infections	25981	DNAH1	ORPHA:244
HP:0002205	Recurrent respiratory infections	115948	ODAD3	ORPHA:244
HP:0002205	Recurrent respiratory infections	54768	HYDIN	ORPHA:244
HP:0002205	Recurrent respiratory infections	352909	DNAAF3	ORPHA:244
HP:0002205	Recurrent respiratory infections	27148	STK36	ORPHA:244
HP:0002205	Recurrent respiratory infections	51314	NME8	ORPHA:244
HP:0002205	Recurrent respiratory infections	92749	DRC1	ORPHA:244
HP:0002205	Recurrent respiratory infections	54970	TTC12	ORPHA:244
HP:0002205	Recurrent respiratory infections	152110	NEK10	ORPHA:244
HP:0002205	Recurrent respiratory infections	8481	OFD1	ORPHA:244
HP:0002205	Recurrent respiratory infections	2302	FOXJ1	ORPHA:244
HP:0002205	Recurrent respiratory infections	221421	RSPH9	ORPHA:244
HP:0002205	Recurrent respiratory infections	85478	CCDC65	ORPHA:244
HP:0002205	Recurrent respiratory infections	55036	CCDC40	ORPHA:244
HP:0002205	Recurrent respiratory infections	51364	ZMYND10	ORPHA:244
HP:0002205	Recurrent respiratory infections	64446	DNAI2	ORPHA:244
HP:0002205	Recurrent respiratory infections	6674	SPAG1	ORPHA:244
HP:0002205	Recurrent respiratory infections	83544	DNAL1	ORPHA:244
HP:0002205	Recurrent respiratory infections	89765	RSPH1	ORPHA:244
HP:0002205	Recurrent respiratory infections	83538	ODAD4	ORPHA:244
HP:0002205	Recurrent respiratory infections	200373	CFAP221	ORPHA:244
HP:0002205	Recurrent respiratory infections	374407	DNAJB13	ORPHA:244
HP:0002205	Recurrent respiratory infections	55172	DNAAF2	ORPHA:244
HP:0002205	Recurrent respiratory infections	161582	DNAAF4	ORPHA:244
HP:0002205	Recurrent respiratory infections	2622	GAS8	ORPHA:244
HP:0002205	Recurrent respiratory infections	23639	DNAAF11	ORPHA:244
HP:0002205	Recurrent respiratory infections	27019	DNAI1	ORPHA:244
HP:0002205	Recurrent respiratory infections	345895	RSPH4A	ORPHA:244
HP:0002205	Recurrent respiratory infections	54919	DNAAF5	ORPHA:244
HP:0002205	Recurrent respiratory infections	6103	RPGR	ORPHA:244
HP:0002205	Recurrent respiratory infections	388389	CCDC103	ORPHA:244
HP:0002205	Recurrent respiratory infections	93233	ODAD1	ORPHA:244
HP:0002205	Recurrent respiratory infections	55130	ODAD2	ORPHA:244
HP:0002205	Recurrent respiratory infections	1767	DNAH5	ORPHA:244
HP:0002205	Recurrent respiratory infections	83861	RSPH3	ORPHA:244
HP:0002205	Recurrent respiratory infections	345643	MCIDAS	ORPHA:244
HP:0002205	Recurrent respiratory infections	56683	CFAP298	ORPHA:244
HP:0002205	Recurrent respiratory infections	79925	SPEF2	ORPHA:244
HP:0002205	Recurrent respiratory infections	10309	CCNO	ORPHA:244
HP:0002205	Recurrent respiratory infections	115399	LRRC56	ORPHA:244
HP:0002205	Recurrent respiratory infections	139212	DNAAF6	ORPHA:244
HP:0002205	Recurrent respiratory infections	123872	DNAAF1	ORPHA:244
HP:0002205	Recurrent respiratory infections	85016	CFAP300	ORPHA:244
HP:0002205	Recurrent respiratory infections	339829	CCDC39	ORPHA:244
HP:0002205	Recurrent respiratory infections	8701	DNAH11	ORPHA:244
HP:0002205	Recurrent respiratory infections	1770	DNAH9	ORPHA:244
HP:0002205	Recurrent respiratory infections	246176	GAS2L2	ORPHA:244
HP:0002205	Recurrent respiratory infections	10312	TCIRG1	ORPHA:486
HP:0002205	Recurrent respiratory infections	1991	ELANE	ORPHA:486
HP:0002205	Recurrent respiratory infections	2672	GFI1	ORPHA:486
HP:0002205	Recurrent respiratory infections	6729	SRP54	ORPHA:486
HP:0002205	Recurrent respiratory infections	81570	CLPB	ORPHA:486
HP:0002205	Recurrent respiratory infections	23495	TNFRSF13B	OMIM:609529
HP:0002205	Recurrent respiratory infections	1080	CFTR	ORPHA:498359
HP:0002205	Recurrent respiratory infections	81704	DOCK8	OMIM:243700
HP:0002205	Recurrent respiratory infections	6774	STAT3	OMIM:147060
HP:0002205	Recurrent respiratory infections	7037	TFRC	OMIM:616740
HP:0002205	Recurrent respiratory infections	60468	BACH2	OMIM:618394
HP:0002205	Recurrent respiratory infections	23545	ATP6V0A2	ORPHA:2834
HP:0002205	Recurrent respiratory infections	4790	NFKB1	OMIM:616576
HP:0002205	Recurrent respiratory infections	841	CASP8	OMIM:607271
HP:0002205	Recurrent respiratory infections	5336	PLCG2	OMIM:614878
HP:0002205	Recurrent respiratory infections	5336	PLCG2	OMIM:614468
HP:0002205	Recurrent respiratory infections	5293	PIK3CD	OMIM:615513
HP:0002205	Recurrent respiratory infections	56259	CTNNBL1	OMIM:619846
HP:0002205	Recurrent respiratory infections	5294	PIK3CG	OMIM:619802
HP:0002205	Recurrent respiratory infections	4683	NBN	ORPHA:647
HP:0002205	Recurrent respiratory infections	100	ADA	ORPHA:277
HP:0002205	Recurrent respiratory infections	100	ADA	OMIM:102700
HP:0002205	Recurrent respiratory infections	3476	IGBP1	OMIM:300472
HP:0002205	Recurrent respiratory infections	2137	EXTL3	ORPHA:508533
HP:0002205	Recurrent respiratory infections	4921	DDR2	OMIM:271665
HP:0002205	Recurrent respiratory infections	3763	KCNJ6	ORPHA:435628
HP:0002205	Recurrent respiratory infections	3763	KCNJ6	OMIM:614098
HP:0002205	Recurrent respiratory infections	5351	PLOD1	OMIM:225400
HP:0002205	Recurrent respiratory infections	5351	PLOD1	ORPHA:1900
HP:0002205	Recurrent respiratory infections	6477	SIAH1	OMIM:619314
HP:0002205	Recurrent respiratory infections	4688	NCF2	OMIM:233710
HP:0002205	Recurrent respiratory infections	8425	LTBP4	OMIM:613177
HP:0002205	Recurrent respiratory infections	5238	PGM3	ORPHA:443811
HP:0002205	Recurrent respiratory infections	11133	KPTN	OMIM:615637
HP:0002205	Recurrent respiratory infections	11133	KPTN	ORPHA:397612
HP:0002205	Recurrent respiratory infections	57539	WDR35	OMIM:613610
HP:0002205	Recurrent respiratory infections	81857	MED25	OMIM:616449
HP:0002205	Recurrent respiratory infections	81857	MED25	ORPHA:464738
HP:0002205	Recurrent respiratory infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002205	Recurrent respiratory infections	100151683	RNU4ATAC	OMIM:616651
HP:0002205	Recurrent respiratory infections	755	CFAP410	OMIM:602271
HP:0002205	Recurrent respiratory infections	126792	B3GALT6	OMIM:609465
HP:0002205	Recurrent respiratory infections	6720	SREBF1	OMIM:158310
HP:0002205	Recurrent respiratory infections	1302	COL11A2	OMIM:215150
HP:0002205	Recurrent respiratory infections	4522	MTHFD1	OMIM:617780
HP:0002205	Recurrent respiratory infections	9948	WDR1	OMIM:150550
HP:0002205	Recurrent respiratory infections	939	CD27	OMIM:615122
HP:0002205	Recurrent respiratory infections	10157	AASS	ORPHA:2203
HP:0002205	Recurrent respiratory infections	5184	PEPD	OMIM:170100
HP:0002205	Recurrent respiratory infections	3543	IGLL1	OMIM:613500
HP:0002205	Recurrent respiratory infections	29760	BLNK	OMIM:613502
HP:0002205	Recurrent respiratory infections	6440	SFTPC	OMIM:610913
HP:0002205	Recurrent respiratory infections	3417	IDH1	ORPHA:99646
HP:0002205	Recurrent respiratory infections	6904	TBCD	ORPHA:496641
HP:0002205	Recurrent respiratory infections	915	CD3D	ORPHA:169160
HP:0002205	Recurrent respiratory infections	916	CD3E	ORPHA:169160
HP:0002205	Recurrent respiratory infections	919	CD247	ORPHA:169160
HP:0002205	Recurrent respiratory infections	919	CD247	OMIM:610163
HP:0002205	Recurrent respiratory infections	4001	LMNB1	OMIM:619179
HP:0002205	Recurrent respiratory infections	7084	TK2	ORPHA:254875
HP:0002205	Recurrent respiratory infections	3952	LEP	OMIM:614962
HP:0002205	Recurrent respiratory infections	8792	TNFRSF11A	OMIM:612301
HP:0002205	Recurrent respiratory infections	10095	ARPC1B	OMIM:617718
HP:0002205	Recurrent respiratory infections	7080	NKX2-1	ORPHA:209905
HP:0002205	Recurrent respiratory infections	8546	AP3B1	OMIM:608233
HP:0002205	Recurrent respiratory infections	7852	CXCR4	ORPHA:51636
HP:0002205	Recurrent respiratory infections	54681	P4HTM	OMIM:618493
HP:0002205	Recurrent respiratory infections	146206	CARMIL2	OMIM:618131
HP:0002205	Recurrent respiratory infections	79415	CYBC1	OMIM:618935
HP:0002205	Recurrent respiratory infections	653361	NCF1	OMIM:233700
HP:0002205	Recurrent respiratory infections	23594	ORC6	OMIM:613803
HP:0002205	Recurrent respiratory infections	26040	SETBP1	ORPHA:798
HP:0002205	Recurrent respiratory infections	2074	ERCC6	OMIM:214150
HP:0002205	Recurrent respiratory infections	2328	FMO3	OMIM:602079
HP:0002205	Recurrent respiratory infections	3572	IL6ST	OMIM:619752
HP:0002205	Recurrent respiratory infections	3572	IL6ST	OMIM:619750
HP:0002205	Recurrent respiratory infections	2588	GALNS	OMIM:253000
HP:0002205	Recurrent respiratory infections	718	C3	OMIM:613779
HP:0002205	Recurrent respiratory infections	4796	TONSL	ORPHA:93357
HP:0002205	Recurrent respiratory infections	5971	RELB	OMIM:617585
HP:0002205	Recurrent respiratory infections	51341	ZBTB7A	OMIM:619769
HP:0002205	Recurrent respiratory infections	199221	DZIP1L	ORPHA:731
HP:0002205	Recurrent respiratory infections	5314	PKHD1	ORPHA:731
HP:0002205	Recurrent respiratory infections	5422	POLA1	OMIM:301220
HP:0002205	Recurrent respiratory infections	5317	PKP1	ORPHA:158668
HP:0002205	Recurrent respiratory infections	54941	RNF125	OMIM:616260
HP:0002205	Recurrent respiratory infections	3423	IDS	OMIM:309900
HP:0002205	Recurrent respiratory infections	5879	RAC1	OMIM:617751
HP:0002205	Recurrent respiratory infections	5879	RAC1	ORPHA:500159
HP:0002205	Recurrent respiratory infections	6603	SMARCD2	OMIM:617475
HP:0002205	Recurrent respiratory infections	10747	MASP2	OMIM:613791
HP:0002205	Recurrent respiratory infections	27040	LAT	OMIM:617514
HP:0002205	Recurrent respiratory infections	4052	LTBP1	ORPHA:90349
HP:0002205	Recurrent respiratory infections	30008	EFEMP2	ORPHA:90349
HP:0002205	Recurrent respiratory infections	1535	CYBA	OMIM:233690
HP:0002205	Recurrent respiratory infections	1536	CYBB	OMIM:306400
HP:0002205	Recurrent respiratory infections	57728	WDR19	OMIM:614378
HP:0002205	Recurrent respiratory infections	1794	DOCK2	OMIM:616433
HP:0002205	Recurrent respiratory infections	284119	CAVIN1	OMIM:613327
HP:0002205	Recurrent respiratory infections	6929	TCF3	OMIM:619824
HP:0002205	Recurrent respiratory infections	871	SERPINH1	OMIM:613848
HP:0002205	Recurrent respiratory infections	55294	FBXW7	OMIM:620012
HP:0002205	Recurrent respiratory infections	5813	PURA	ORPHA:314655
HP:0002205	Recurrent respiratory infections	65082	VPS33A	OMIM:617303
HP:0002205	Recurrent respiratory infections	2212	FCGR2A	OMIM:219700
HP:0002205	Recurrent respiratory infections	7040	TGFB1	OMIM:219700
HP:0002205	Recurrent respiratory infections	28956	LAMTOR2	OMIM:610798
HP:0002205	Recurrent respiratory infections	28956	LAMTOR2	ORPHA:90023
HP:0002205	Recurrent respiratory infections	404672	GTF2H5	ORPHA:33364
HP:0002205	Recurrent respiratory infections	833	CARS1	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2068	ERCC2	ORPHA:33364
HP:0002205	Recurrent respiratory infections	7737	RNF113A	ORPHA:33364
HP:0002205	Recurrent respiratory infections	136647	MPLKIP	ORPHA:33364
HP:0002205	Recurrent respiratory infections	6897	TARS1	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2071	ERCC3	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2961	GTF2E2	ORPHA:33364
HP:0002205	Recurrent respiratory infections	79650	USB1	OMIM:604173
HP:0002205	Recurrent respiratory infections	7840	ALMS1	ORPHA:64
HP:0002205	Recurrent respiratory infections	30011	SH3KBP1	OMIM:300310
HP:0002205	Recurrent respiratory infections	4791	NFKB2	ORPHA:293978
HP:0002205	Recurrent respiratory infections	4791	NFKB2	OMIM:615577
HP:0002205	Recurrent respiratory infections	930	CD19	OMIM:613493
HP:0002205	Recurrent respiratory infections	930	CD19	OMIM:240500
HP:0002205	Recurrent respiratory infections	115650	TNFRSF13C	OMIM:613494
HP:0002205	Recurrent respiratory infections	115650	TNFRSF13C	OMIM:240500
HP:0002205	Recurrent respiratory infections	987	LRBA	OMIM:614700
HP:0002205	Recurrent respiratory infections	54499	TMCO1	OMIM:213980
HP:0002205	Recurrent respiratory infections	9094	UNC119	OMIM:615518
HP:0002205	Recurrent respiratory infections	3507	IGHM	OMIM:601495
HP:0002205	Recurrent respiratory infections	4256	MGP	ORPHA:85202
HP:0002205	Recurrent respiratory infections	6813	STXBP2	OMIM:613101
HP:0002205	Recurrent respiratory infections	51816	ADA2	OMIM:615688
HP:0002205	Recurrent respiratory infections	50615	IL21R	OMIM:615207
HP:0002205	Recurrent respiratory infections	85452	CFAP74	OMIM:620197
HP:0002205	Recurrent respiratory infections	8382	NME5	OMIM:620032
HP:0002205	Recurrent respiratory infections	29851	ICOS	OMIM:607594
HP:0002205	Recurrent respiratory infections	29851	ICOS	OMIM:240500
HP:0002205	Recurrent respiratory infections	84905	ZNF341	OMIM:618282
HP:0002205	Recurrent respiratory infections	54	ACP5	OMIM:607944
HP:0002205	Recurrent respiratory infections	1380	CR2	OMIM:240500
HP:0002205	Recurrent respiratory infections	84061	MAGT1	OMIM:300853
HP:0002205	Recurrent respiratory infections	1290	COL5A2	OMIM:130010
HP:0002205	Recurrent respiratory infections	10625	IVNS1ABP	OMIM:618969
HP:0002205	Recurrent respiratory infections	4194	MDM4	OMIM:618849
HP:0002205	Recurrent respiratory infections	3551	IKBKB	OMIM:618204
HP:0002205	Recurrent respiratory infections	23765	IL17RA	OMIM:613953
HP:0002205	Recurrent respiratory infections	6899	TBX1	OMIM:188400
HP:0002205	Recurrent respiratory infections	721	C4B	OMIM:614379
HP:0002205	Recurrent respiratory infections	359948	IRF2BP2	OMIM:617765
HP:0002205	Recurrent respiratory infections	4689	NCF4	OMIM:613960
HP:0002205	Recurrent respiratory infections	6688	SPI1	OMIM:619707
HP:0002205	Recurrent respiratory infections	5696	PSMB8	OMIM:256040
HP:0002205	Recurrent respiratory infections	2214	FCGR3A	OMIM:615707
HP:0002205	Recurrent respiratory infections	165918	RNF168	ORPHA:420741
HP:0002205	Recurrent respiratory infections	65055	REEP1	OMIM:620011
HP:0002205	Recurrent respiratory infections	55343	SLC35C1	OMIM:266265
HP:0002205	Recurrent respiratory infections	5339	PLEC	ORPHA:254361
HP:0002205	Recurrent respiratory infections	10806	SDCCAG8	OMIM:615993
HP:0002205	Recurrent respiratory infections	2006	ELN	ORPHA:90348
HP:0002205	Recurrent respiratory infections	10516	FBLN5	ORPHA:90348
HP:0002205	Recurrent respiratory infections	5832	ALDH18A1	ORPHA:90348
HP:0002205	Recurrent respiratory infections	6890	TAP1	OMIM:604571
HP:0002205	Recurrent respiratory infections	6891	TAP2	OMIM:604571
HP:0002205	Recurrent respiratory infections	6892	TAPBP	OMIM:604571
HP:0002205	Recurrent respiratory infections	2629	GBA1	OMIM:230900
HP:0002205	Recurrent respiratory infections	23149	FCHO1	OMIM:619164
HP:0002205	Recurrent respiratory infections	1956	EGFR	OMIM:616069
HP:0002205	Recurrent respiratory infections	26191	PTPN22	ORPHA:397
HP:0002205	Recurrent respiratory infections	3106	HLA-B	ORPHA:397
HP:0002205	Recurrent respiratory infections	3123	HLA-DRB1	ORPHA:397
HP:0002205	Recurrent respiratory infections	8974	P4HA2	ORPHA:397
HP:0002205	Recurrent respiratory infections	55315	SLC29A3	ORPHA:168569
HP:0002205	Recurrent respiratory infections	7132	TNFRSF1A	ORPHA:32960
HP:0002205	Recurrent respiratory infections	331	XIAP	OMIM:308240
HP:0002205	Recurrent respiratory infections	4068	SH2D1A	OMIM:308240
HP:0002205	Recurrent respiratory infections	79087	ALG12	ORPHA:79324
HP:0002205	Recurrent respiratory infections	2737	GLI3	ORPHA:672
HP:0002205	Recurrent respiratory infections	5896	RAG1	ORPHA:331206
HP:0002205	Recurrent respiratory infections	5897	RAG2	ORPHA:331206
HP:0002205	Recurrent respiratory infections	4247	MGAT2	ORPHA:79329
HP:0002205	Recurrent respiratory infections	8239	USP9X	ORPHA:480880
HP:0002205	Recurrent respiratory infections	57379	AICDA	OMIM:605258
HP:0002205	Recurrent respiratory infections	64421	DCLRE1C	ORPHA:275
HP:0002205	Recurrent respiratory infections	7374	UNG	OMIM:608106
HP:0002205	Recurrent respiratory infections	29969	MDFIC	OMIM:620014
HP:0002205	Recurrent respiratory infections	7535	ZAP70	ORPHA:911
HP:0002207	Diffuse reticular or finely nodular infiltrations	6609	SMPD1	OMIM:607616
HP:0002207	Diffuse reticular or finely nodular infiltrations	6609	SMPD1	OMIM:257200
HP:0002207	Diffuse reticular or finely nodular infiltrations	427	ASAH1	ORPHA:333
HP:0002208	Coarse hair	538	ATP7A	ORPHA:198
HP:0002208	Coarse hair	538	ATP7A	OMIM:304150
HP:0002208	Coarse hair	6448	SGSH	OMIM:252900
HP:0002208	Coarse hair	29957	SLC25A24	ORPHA:2095
HP:0002208	Coarse hair	29957	SLC25A24	OMIM:612289
HP:0002208	Coarse hair	57003	CCDC47	OMIM:618268
HP:0002208	Coarse hair	5728	PTEN	OMIM:605309
HP:0002208	Coarse hair	81607	NECTIN4	OMIM:613573
HP:0002208	Coarse hair	27125	AFF4	OMIM:616368
HP:0002208	Coarse hair	121391	KRT74	OMIM:194300
HP:0002208	Coarse hair	23545	ATP6V0A2	OMIM:219200
HP:0002208	Coarse hair	23545	ATP6V0A2	ORPHA:357074
HP:0002208	Coarse hair	285362	SUMF1	ORPHA:585
HP:0002208	Coarse hair	55027	HEATR3	OMIM:620072
HP:0002208	Coarse hair	6720	SREBF1	OMIM:158310
HP:0002208	Coarse hair	4854	NOTCH3	OMIM:130720
HP:0002208	Coarse hair	65082	VPS33A	OMIM:617303
HP:0002208	Coarse hair	5500	PPP1CB	OMIM:617506
HP:0002208	Coarse hair	10161	LPAR6	OMIM:278150
HP:0002208	Coarse hair	84520	GON7	OMIM:619603
HP:0002208	Coarse hair	54499	TMCO1	ORPHA:1394
HP:0002208	Coarse hair	50485	SMARCAL1	OMIM:242900
HP:0002208	Coarse hair	2799	GNS	OMIM:252940
HP:0002208	Coarse hair	6197	RPS6KA3	OMIM:303600
HP:0002208	Coarse hair	10484	SEC23A	ORPHA:50814
HP:0002208	Coarse hair	10484	SEC23A	OMIM:607812
HP:0002208	Coarse hair	523	ATP6V1A	ORPHA:357074
HP:0002208	Coarse hair	529	ATP6V1E1	ORPHA:357074
HP:0002208	Coarse hair	2990	GUSB	OMIM:253220
HP:0002208	Coarse hair	22800	RRAS2	ORPHA:648
HP:0002208	Coarse hair	867	CBL	ORPHA:648
HP:0002208	Coarse hair	8216	LZTR1	ORPHA:648
HP:0002208	Coarse hair	6016	RIT1	ORPHA:648
HP:0002208	Coarse hair	6237	RRAS	ORPHA:648
HP:0002208	Coarse hair	5894	RAF1	ORPHA:648
HP:0002208	Coarse hair	22808	MRAS	ORPHA:648
HP:0002208	Coarse hair	3845	KRAS	ORPHA:648
HP:0002208	Coarse hair	200734	SPRED2	ORPHA:648
HP:0002208	Coarse hair	4893	NRAS	ORPHA:648
HP:0002208	Coarse hair	6654	SOS1	ORPHA:648
HP:0002208	Coarse hair	6655	SOS2	ORPHA:648
HP:0002208	Coarse hair	5781	PTPN11	ORPHA:648
HP:0002208	Coarse hair	5922	RASA2	ORPHA:648
HP:0002208	Coarse hair	138050	HGSNAT	OMIM:252930
HP:0002208	Coarse hair	8481	OFD1	ORPHA:2750
HP:0002208	Coarse hair	79574	EPS8L3	ORPHA:444
HP:0002208	Coarse hair	55806	HR	ORPHA:444
HP:0002208	Coarse hair	2071	ERCC3	OMIM:616390
HP:0002208	Coarse hair	10087	CERT1	OMIM:616351
HP:0002208	Coarse hair	497661	C18orf32	OMIM:619985
HP:0002208	Coarse hair	617	BCS1L	OMIM:262000
HP:0002208	Coarse hair	8985	PLOD3	OMIM:612394
HP:0002208	Coarse hair	8626	TP63	ORPHA:1896
HP:0002208	Coarse hair	10682	EBP	ORPHA:35173
HP:0002208	Coarse hair	2316	FLNA	OMIM:309350
HP:0002208	Coarse hair	51702	PADI3	ORPHA:1410
HP:0002208	Coarse hair	7053	TGM3	ORPHA:1410
HP:0002208	Coarse hair	8517	IKBKG	OMIM:308300
HP:0002208	Coarse hair	4669	NAGLU	OMIM:252920
HP:0002208	Coarse hair	4853	NOTCH2	ORPHA:955
HP:0002209	Sparse scalp hair	875	CBS	ORPHA:394
HP:0002209	Sparse scalp hair	8036	SHOC2	OMIM:607721
HP:0002209	Sparse scalp hair	8036	SHOC2	ORPHA:2701
HP:0002209	Sparse scalp hair	23394	ADNP	ORPHA:404448
HP:0002209	Sparse scalp hair	54084	TSPEAR	OMIM:618180
HP:0002209	Sparse scalp hair	81607	NECTIN4	OMIM:613573
HP:0002209	Sparse scalp hair	100151683	RNU4ATAC	OMIM:210710
HP:0002209	Sparse scalp hair	10054	UBA2	OMIM:619959
HP:0002209	Sparse scalp hair	9759	HDAC4	ORPHA:1001
HP:0002209	Sparse scalp hair	775	CACNA1C	OMIM:620029
HP:0002209	Sparse scalp hair	128178	EDARADD	OMIM:614941
HP:0002209	Sparse scalp hair	8626	TP63	OMIM:604292
HP:0002209	Sparse scalp hair	8626	TP63	OMIM:103285
HP:0002209	Sparse scalp hair	8626	TP63	ORPHA:978
HP:0002209	Sparse scalp hair	4047	LSS	ORPHA:2850
HP:0002209	Sparse scalp hair	4047	LSS	ORPHA:55654
HP:0002209	Sparse scalp hair	197	AHSG	ORPHA:2850
HP:0002209	Sparse scalp hair	3694	ITGB6	ORPHA:2850
HP:0002209	Sparse scalp hair	9401	RECQL4	OMIM:268400
HP:0002209	Sparse scalp hair	9401	RECQL4	OMIM:266280
HP:0002209	Sparse scalp hair	2706	GJB2	OMIM:602540
HP:0002209	Sparse scalp hair	197131	UBR1	OMIM:243800
HP:0002209	Sparse scalp hair	267010	RNU12	OMIM:603116
HP:0002209	Sparse scalp hair	3728	JUP	ORPHA:34217
HP:0002209	Sparse scalp hair	54453	RIN2	ORPHA:217335
HP:0002209	Sparse scalp hair	9578	CDC42BPB	OMIM:619841
HP:0002209	Sparse scalp hair	29998	BICRA	OMIM:619325
HP:0002209	Sparse scalp hair	6144	RPL21	OMIM:615885
HP:0002209	Sparse scalp hair	6144	RPL21	ORPHA:55654
HP:0002209	Sparse scalp hair	4792	NFKBIA	OMIM:612132
HP:0002209	Sparse scalp hair	54345	SOX18	ORPHA:69735
HP:0002209	Sparse scalp hair	54345	SOX18	OMIM:607823
HP:0002209	Sparse scalp hair	54345	SOX18	OMIM:137940
HP:0002209	Sparse scalp hair	1825	DSC3	OMIM:613102
HP:0002209	Sparse scalp hair	121391	KRT74	OMIM:613981
HP:0002209	Sparse scalp hair	121391	KRT74	ORPHA:90368
HP:0002209	Sparse scalp hair	121391	KRT74	OMIM:614929
HP:0002209	Sparse scalp hair	4953	ODC1	ORPHA:544488
HP:0002209	Sparse scalp hair	4953	ODC1	OMIM:619075
HP:0002209	Sparse scalp hair	4000	LMNA	OMIM:248370
HP:0002209	Sparse scalp hair	3872	KRT17	OMIM:167210
HP:0002209	Sparse scalp hair	26128	KIFBP	ORPHA:66629
HP:0002209	Sparse scalp hair	9076	CLDN1	ORPHA:59303
HP:0002209	Sparse scalp hair	4952	OCRL	ORPHA:534
HP:0002209	Sparse scalp hair	6595	SMARCA2	OMIM:619293
HP:0002209	Sparse scalp hair	6595	SMARCA2	OMIM:601358
HP:0002209	Sparse scalp hair	84196	USP48	ORPHA:96253
HP:0002209	Sparse scalp hair	7157	TP53	ORPHA:96253
HP:0002209	Sparse scalp hair	9101	USP8	ORPHA:96253
HP:0002209	Sparse scalp hair	64072	CDH23	ORPHA:96253
HP:0002209	Sparse scalp hair	2908	NR3C1	ORPHA:96253
HP:0002209	Sparse scalp hair	673	BRAF	ORPHA:96253
HP:0002209	Sparse scalp hair	673	BRAF	ORPHA:840
HP:0002209	Sparse scalp hair	546	ATRX	ORPHA:96253
HP:0002209	Sparse scalp hair	57492	ARID1B	OMIM:135900
HP:0002209	Sparse scalp hair	57492	ARID1B	ORPHA:1465
HP:0002209	Sparse scalp hair	6601	SMARCC2	OMIM:618362
HP:0002209	Sparse scalp hair	6601	SMARCC2	ORPHA:1465
HP:0002209	Sparse scalp hair	23522	KAT6B	OMIM:606170
HP:0002209	Sparse scalp hair	23522	KAT6B	ORPHA:85201
HP:0002209	Sparse scalp hair	1041	CDSN	OMIM:146520
HP:0002209	Sparse scalp hair	1041	CDSN	ORPHA:90368
HP:0002209	Sparse scalp hair	6597	SMARCA4	ORPHA:1465
HP:0002209	Sparse scalp hair	6597	SMARCA4	OMIM:614609
HP:0002209	Sparse scalp hair	6598	SMARCB1	ORPHA:1465
HP:0002209	Sparse scalp hair	6598	SMARCB1	OMIM:614608
HP:0002209	Sparse scalp hair	6659	SOX4	ORPHA:1465
HP:0002209	Sparse scalp hair	8289	ARID1A	ORPHA:1465
HP:0002209	Sparse scalp hair	8289	ARID1A	OMIM:614607
HP:0002209	Sparse scalp hair	5977	DPF2	ORPHA:1465
HP:0002209	Sparse scalp hair	5977	DPF2	OMIM:618027
HP:0002209	Sparse scalp hair	6602	SMARCD1	ORPHA:1465
HP:0002209	Sparse scalp hair	196528	ARID2	ORPHA:1465
HP:0002209	Sparse scalp hair	6605	SMARCE1	ORPHA:1465
HP:0002209	Sparse scalp hair	6605	SMARCE1	OMIM:616938
HP:0002209	Sparse scalp hair	6664	SOX11	ORPHA:1465
HP:0002209	Sparse scalp hair	6664	SOX11	OMIM:615866
HP:0002209	Sparse scalp hair	81857	MED25	ORPHA:464738
HP:0002209	Sparse scalp hair	1801	DPH1	OMIM:616901
HP:0002209	Sparse scalp hair	1801	DPH1	ORPHA:459061
HP:0002209	Sparse scalp hair	80326	WNT10A	OMIM:257980
HP:0002209	Sparse scalp hair	80326	WNT10A	OMIM:150400
HP:0002209	Sparse scalp hair	79574	EPS8L3	ORPHA:444
HP:0002209	Sparse scalp hair	55806	HR	ORPHA:444
HP:0002209	Sparse scalp hair	7703	PCGF2	OMIM:618371
HP:0002209	Sparse scalp hair	857	CAV1	OMIM:606721
HP:0002209	Sparse scalp hair	9896	FIG4	ORPHA:3472
HP:0002209	Sparse scalp hair	9896	FIG4	OMIM:216340
HP:0002209	Sparse scalp hair	55697	VAC14	ORPHA:3472
HP:0002209	Sparse scalp hair	23028	KDM1A	ORPHA:477993
HP:0002209	Sparse scalp hair	5500	PPP1CB	ORPHA:2701
HP:0002209	Sparse scalp hair	4914	NTRK1	OMIM:256800
HP:0002209	Sparse scalp hair	1001	CDH3	ORPHA:1573
HP:0002209	Sparse scalp hair	1001	CDH3	OMIM:225280
HP:0002209	Sparse scalp hair	1001	CDH3	ORPHA:1897
HP:0002209	Sparse scalp hair	2783	GNB2	OMIM:619503
HP:0002209	Sparse scalp hair	1474	CST6	OMIM:618535
HP:0002209	Sparse scalp hair	5116	PCNT	OMIM:210720
HP:0002209	Sparse scalp hair	5116	PCNT	ORPHA:808
HP:0002209	Sparse scalp hair	9419	CRIPT	OMIM:615789
HP:0002209	Sparse scalp hair	79669	C3orf52	OMIM:620177
HP:0002209	Sparse scalp hair	11285	B4GALT7	ORPHA:75496
HP:0002209	Sparse scalp hair	11285	B4GALT7	OMIM:130070
HP:0002209	Sparse scalp hair	1802	DPH2	OMIM:620062
HP:0002209	Sparse scalp hair	3981	LIG4	ORPHA:235
HP:0002209	Sparse scalp hair	54888	NSUN2	ORPHA:235
HP:0002209	Sparse scalp hair	8313	AXIN2	OMIM:608615
HP:0002209	Sparse scalp hair	200879	LIPH	OMIM:604379
HP:0002209	Sparse scalp hair	200879	LIPH	ORPHA:55654
HP:0002209	Sparse scalp hair	10526	IPO8	OMIM:619472
HP:0002209	Sparse scalp hair	147183	KRT25	OMIM:616760
HP:0002209	Sparse scalp hair	55651	NHP2	OMIM:224230
HP:0002209	Sparse scalp hair	55505	NOP10	OMIM:224230
HP:0002209	Sparse scalp hair	29957	SLC25A24	OMIM:612289
HP:0002209	Sparse scalp hair	3122	HLA-DRA	ORPHA:505
HP:0002209	Sparse scalp hair	11128	POLR3A	OMIM:264090
HP:0002209	Sparse scalp hair	11128	POLR3A	ORPHA:3455
HP:0002209	Sparse scalp hair	3675	ITGA3	OMIM:614748
HP:0002209	Sparse scalp hair	7486	WRN	ORPHA:902
HP:0002209	Sparse scalp hair	2131	EXT1	ORPHA:502
HP:0002209	Sparse scalp hair	7227	TRPS1	ORPHA:502
HP:0002209	Sparse scalp hair	10804	GJB6	ORPHA:189
HP:0002209	Sparse scalp hair	147495	APCDD1	ORPHA:55654
HP:0002209	Sparse scalp hair	147409	DSG4	ORPHA:55654
HP:0002209	Sparse scalp hair	6635	SNRPE	ORPHA:55654
HP:0002209	Sparse scalp hair	10161	LPAR6	ORPHA:55654
HP:0002209	Sparse scalp hair	10161	LPAR6	OMIM:278150
HP:0002209	Sparse scalp hair	51360	MBTPS2	OMIM:308205
HP:0002209	Sparse scalp hair	26137	ZBTB20	OMIM:259050
HP:0002209	Sparse scalp hair	4094	MAF	ORPHA:1272
HP:0002209	Sparse scalp hair	4094	MAF	OMIM:601088
HP:0002209	Sparse scalp hair	25959	KANK2	OMIM:616099
HP:0002209	Sparse scalp hair	11005	SPINK5	OMIM:256500
HP:0002209	Sparse scalp hair	11005	SPINK5	ORPHA:634
HP:0002209	Sparse scalp hair	79971	WLS	OMIM:619648
HP:0002209	Sparse scalp hair	84946	LTV1	OMIM:620199
HP:0002209	Sparse scalp hair	126792	B3GALT6	OMIM:271640
HP:0002209	Sparse scalp hair	1984	EIF5A	OMIM:619376
HP:0002209	Sparse scalp hair	8815	BANF1	OMIM:614008
HP:0002209	Sparse scalp hair	545	ATR	ORPHA:808
HP:0002209	Sparse scalp hair	1062	CENPE	ORPHA:808
HP:0002209	Sparse scalp hair	5932	RBBP8	ORPHA:808
HP:0002209	Sparse scalp hair	79902	NUP85	ORPHA:808
HP:0002209	Sparse scalp hair	84126	ATRIP	ORPHA:808
HP:0002209	Sparse scalp hair	55835	CENPJ	ORPHA:808
HP:0002209	Sparse scalp hair	10293	TRAIP	ORPHA:808
HP:0002209	Sparse scalp hair	22995	CEP152	ORPHA:808
HP:0002209	Sparse scalp hair	10733	PLK4	ORPHA:808
HP:0002209	Sparse scalp hair	404672	GTF2H5	ORPHA:33364
HP:0002209	Sparse scalp hair	833	CARS1	ORPHA:33364
HP:0002209	Sparse scalp hair	2068	ERCC2	ORPHA:33364
HP:0002209	Sparse scalp hair	7737	RNF113A	ORPHA:33364
HP:0002209	Sparse scalp hair	136647	MPLKIP	ORPHA:33364
HP:0002209	Sparse scalp hair	6897	TARS1	ORPHA:33364
HP:0002209	Sparse scalp hair	2071	ERCC3	ORPHA:33364
HP:0002209	Sparse scalp hair	2961	GTF2E2	ORPHA:33364
HP:0002209	Sparse scalp hair	51750	RTEL1	ORPHA:3322
HP:0002209	Sparse scalp hair	65057	ACD	ORPHA:3322
HP:0002209	Sparse scalp hair	5073	PARN	ORPHA:3322
HP:0002209	Sparse scalp hair	7015	TERT	ORPHA:3322
HP:0002209	Sparse scalp hair	26277	TINF2	ORPHA:3322
HP:0002209	Sparse scalp hair	1736	DKC1	ORPHA:3322
HP:0002209	Sparse scalp hair	9742	IFT140	OMIM:266920
HP:0002209	Sparse scalp hair	54101	RIPK4	OMIM:263650
HP:0002209	Sparse scalp hair	5587	PRKD1	OMIM:617364
HP:0002209	Sparse scalp hair	355	FAS	ORPHA:3437
HP:0002209	Sparse scalp hair	26191	PTPN22	ORPHA:3437
HP:0002209	Sparse scalp hair	120766137	HRURF	OMIM:146550
HP:0002209	Sparse scalp hair	25871	NEPRO	OMIM:618853
HP:0002209	Sparse scalp hair	2697	GJA1	ORPHA:1010
HP:0002209	Sparse scalp hair	64858	DCLRE1B	OMIM:620133
HP:0002209	Sparse scalp hair	3480	IGF1R	OMIM:270450
HP:0002209	Sparse scalp hair	64324	NSD1	ORPHA:821
HP:0002209	Sparse scalp hair	29072	SETD2	ORPHA:821
HP:0002209	Sparse scalp hair	10297	APC2	ORPHA:821
HP:0012420	Meconium stained amniotic fluid	23394	ADNP	OMIM:615873
HP:0012420	Meconium stained amniotic fluid	9152	SLC6A5	OMIM:614618
HP:0012420	Meconium stained amniotic fluid	501	ALDH7A1	ORPHA:3006
HP:0012420	Meconium stained amniotic fluid	11212	PLPBP	ORPHA:3006
HP:0012420	Meconium stained amniotic fluid	5205	ATP8B1	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	8647	ABCB11	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	5244	ABCB4	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	9971	NR1H4	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	55023	PHIP	OMIM:617991
HP:0012424	Chorioretinitis	3123	HLA-DRB1	OMIM:181000
HP:0012424	Chorioretinitis	8517	IKBKG	OMIM:301081
HP:0012426	Optic disc drusen	3000	GUCY2D	OMIM:204000
HP:0012426	Optic disc drusen	26022	TMEM98	OMIM:615972
HP:0012426	Optic disc drusen	9227	LRAT	ORPHA:364055
HP:0012426	Optic disc drusen	55812	SPATA7	ORPHA:364055
HP:0012426	Optic disc drusen	6121	RPE65	ORPHA:364055
HP:0012426	Optic disc drusen	167691	LCA5	ORPHA:364055
HP:0012426	Optic disc drusen	10594	PRPF8	OMIM:600059
HP:0012426	Optic disc drusen	26160	IFT172	OMIM:616394
HP:0012426	Optic disc drusen	64131	XYLT1	OMIM:264800
HP:0012426	Optic disc drusen	64132	XYLT2	OMIM:264800
HP:0012426	Optic disc drusen	368	ABCC6	OMIM:264800
HP:0012426	Optic disc drusen	83552	MFRP	OMIM:611040
HP:0012427	Increased femoral anteversion	26128	KIFBP	OMIM:609460
HP:0012427	Increased femoral anteversion	1836	SLC26A2	ORPHA:56304
HP:0012427	Increased femoral anteversion	8567	MADD	OMIM:619005
HP:0012428	Prominent calcaneus	89970	RSPRY1	ORPHA:457395
HP:0012428	Prominent calcaneus	54808	DYM	OMIM:223800
HP:0012428	Prominent calcaneus	23314	SATB2	ORPHA:251028
HP:0012428	Prominent calcaneus	83987	CCDC8	OMIM:614205
HP:0012428	Prominent calcaneus	84340	GFM2	ORPHA:565624
HP:0012428	Prominent calcaneus	23363	OBSL1	OMIM:612921
HP:0012428	Prominent calcaneus	388015	RTL1	ORPHA:96334
HP:0012428	Prominent calcaneus	8788	DLK1	ORPHA:96334
HP:0012428	Prominent calcaneus	55384	MEG3	ORPHA:96334
HP:0012428	Prominent calcaneus	83452	RAB33B	OMIM:615222
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4558	MT-TF	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4572	MT-TQ	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4512	MT-CO1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4513	MT-CO2	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4514	MT-CO3	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4578	MT-TW	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4540	MT-ND5	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4541	MT-ND6	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4535	MT-ND1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4538	MT-ND4	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4567	MT-TL1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4574	MT-TS1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4575	MT-TS2	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4564	MT-TH	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	9839	ZEB2	ORPHA:261537
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	9839	ZEB2	ORPHA:261552
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	29968	PSAT1	ORPHA:284417
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4677	NARS1	OMIM:619091
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	23028	KDM1A	ORPHA:477993
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	23028	KDM1A	OMIM:616728
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	51075	TMX2	OMIM:618730
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	2232	FDXR	ORPHA:543470
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	10352	WARS2	ORPHA:572798
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	112939	NACC1	ORPHA:500545
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	92335	STRADA	ORPHA:500533
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	6513	SLC2A1	ORPHA:168577
HP:0032860	Generalized non-convulsive status epilepticus without coma	1759	DNM1	OMIM:616346
HP:0032860	Generalized non-convulsive status epilepticus without coma	4221	MEN1	ORPHA:652
HP:0032860	Generalized non-convulsive status epilepticus without coma	1027	CDKN1B	ORPHA:652
HP:0032860	Generalized non-convulsive status epilepticus without coma	1026	CDKN1A	ORPHA:652
HP:0032860	Generalized non-convulsive status epilepticus without coma	1030	CDKN2B	ORPHA:652
HP:0032860	Generalized non-convulsive status epilepticus without coma	1031	CDKN2C	ORPHA:652
HP:0032860	Generalized non-convulsive status epilepticus without coma	6335	SCN9A	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	112755	STX1B	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	2563	GABRD	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	6326	SCN2A	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	6323	SCN1A	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	6324	SCN1B	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	348980	HCN1	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	84059	ADGRV1	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	2566	GABRG2	ORPHA:36387
HP:0032860	Generalized non-convulsive status epilepticus without coma	5428	POLG	OMIM:203700
HP:0000664	Synophrys	8243	SMC1A	OMIM:300590
HP:0000664	Synophrys	8243	SMC1A	OMIM:301044
HP:0000664	Synophrys	8243	SMC1A	ORPHA:199
HP:0000664	Synophrys	9853	RUSC2	OMIM:617773
HP:0000664	Synophrys	23241	PACS2	OMIM:618067
HP:0000664	Synophrys	26128	KIFBP	OMIM:609460
HP:0000664	Synophrys	6228	RPS23	OMIM:617412
HP:0000664	Synophrys	5885	RAD21	OMIM:614701
HP:0000664	Synophrys	5885	RAD21	ORPHA:199
HP:0000664	Synophrys	7360	UGP2	OMIM:618744
HP:0000664	Synophrys	7109	TRAPPC10	OMIM:620027
HP:0000664	Synophrys	55777	MBD5	ORPHA:228402
HP:0000664	Synophrys	10274	STAG1	ORPHA:502434
HP:0000664	Synophrys	9578	CDC42BPB	OMIM:619841
HP:0000664	Synophrys	170302	ARX	OMIM:300004
HP:0000664	Synophrys	10300	KATNB1	OMIM:616212
HP:0000664	Synophrys	80816	ASXL3	OMIM:615485
HP:0000664	Synophrys	80816	ASXL3	ORPHA:352577
HP:0000664	Synophrys	7552	ZNF711	OMIM:300803
HP:0000664	Synophrys	51506	UFC1	OMIM:618076
HP:0000664	Synophrys	9442	MED27	OMIM:619286
HP:0000664	Synophrys	65082	VPS33A	OMIM:617303
HP:0000664	Synophrys	526	ATP6V1B2	OMIM:616455
HP:0000664	Synophrys	55690	PACS1	OMIM:615009
HP:0000664	Synophrys	55690	PACS1	ORPHA:329224
HP:0000664	Synophrys	318	NUDT2	OMIM:619844
HP:0000664	Synophrys	2314	FLII	ORPHA:819
HP:0000664	Synophrys	23096	IQSEC2	ORPHA:819
HP:0000664	Synophrys	10743	RAI1	ORPHA:819
HP:0000664	Synophrys	10743	RAI1	OMIM:182290
HP:0000664	Synophrys	10522	DEAF1	ORPHA:819
HP:0000664	Synophrys	5818	NECTIN1	ORPHA:3253
HP:0000664	Synophrys	10978	CLP1	OMIM:615803
HP:0000664	Synophrys	57082	KNL1	OMIM:604321
HP:0000664	Synophrys	26153	KIF26A	OMIM:620156
HP:0000664	Synophrys	6595	SMARCA2	OMIM:619293
HP:0000664	Synophrys	83696	TRAPPC9	OMIM:613192
HP:0000664	Synophrys	83696	TRAPPC9	ORPHA:352530
HP:0000664	Synophrys	55870	ASH1L	OMIM:617796
HP:0000664	Synophrys	3899	AFF3	OMIM:619297
HP:0000664	Synophrys	5119	CHMP1A	OMIM:614961
HP:0000664	Synophrys	4853	NOTCH2	OMIM:102500
HP:0000664	Synophrys	4853	NOTCH2	ORPHA:955
HP:0000664	Synophrys	114034	TOE1	OMIM:614969
HP:0000664	Synophrys	2260	FGFR1	ORPHA:3366
HP:0000664	Synophrys	2260	FGFR1	OMIM:190440
HP:0000664	Synophrys	158326	FREM1	ORPHA:3366
HP:0000664	Synophrys	83550	GPR101	ORPHA:963
HP:0000664	Synophrys	9049	AIP	ORPHA:963
HP:0000664	Synophrys	9377	COX5A	OMIM:619064
HP:0000664	Synophrys	6872	TAF1	ORPHA:480907
HP:0000664	Synophrys	6872	TAF1	OMIM:300966
HP:0000664	Synophrys	171023	ASXL1	ORPHA:97297
HP:0000664	Synophrys	23347	SMCHD1	OMIM:603457
HP:0000664	Synophrys	10087	CERT1	OMIM:616351
HP:0000664	Synophrys	283987	HID1	OMIM:619983
HP:0000664	Synophrys	4297	KMT2A	ORPHA:319182
HP:0000664	Synophrys	4297	KMT2A	OMIM:605130
HP:0000664	Synophrys	23036	ZNF292	OMIM:619188
HP:0000664	Synophrys	3340	NDST1	OMIM:616116
HP:0000664	Synophrys	23461	ABCA5	ORPHA:2026
HP:0000664	Synophrys	79813	EHMT1	OMIM:610253
HP:0000664	Synophrys	79813	EHMT1	ORPHA:96147
HP:0000664	Synophrys	1009	CDH11	ORPHA:1299
HP:0000664	Synophrys	1009	CDH11	OMIM:211380
HP:0000664	Synophrys	93627	TBCK	ORPHA:488632
HP:0000664	Synophrys	84300	UQCC2	OMIM:615824
HP:0000664	Synophrys	2783	GNB2	OMIM:619503
HP:0000664	Synophrys	3782	KCNN3	OMIM:618658
HP:0000664	Synophrys	3192	HNRNPU	ORPHA:238769
HP:0000664	Synophrys	253738	EBF3	OMIM:617330
HP:0000664	Synophrys	26038	CHD5	OMIM:619873
HP:0000664	Synophrys	55621	TRMT1	OMIM:618302
HP:0000664	Synophrys	1182	CLCN3	OMIM:619512
HP:0000664	Synophrys	8558	CDK10	OMIM:617694
HP:0000664	Synophrys	55280	CWF19L1	OMIM:616127
HP:0000664	Synophrys	55280	CWF19L1	ORPHA:453521
HP:0000664	Synophrys	27125	AFF4	OMIM:616368
HP:0000664	Synophrys	27125	AFF4	ORPHA:444077
HP:0000664	Synophrys	5593	PRKG2	OMIM:619636
HP:0000664	Synophrys	54499	TMCO1	OMIM:213980
HP:0000664	Synophrys	54499	TMCO1	ORPHA:1394
HP:0000664	Synophrys	5727	PTCH1	OMIM:610828
HP:0000664	Synophrys	55027	HEATR3	OMIM:620072
HP:0000664	Synophrys	26137	ZBTB20	OMIM:259050
HP:0000664	Synophrys	26137	ZBTB20	ORPHA:3042
HP:0000664	Synophrys	54828	BCAS3	OMIM:619641
HP:0000664	Synophrys	4286	MITF	OMIM:193510
HP:0000664	Synophrys	4286	MITF	ORPHA:897
HP:0000664	Synophrys	56098	PCDHGC4	OMIM:619880
HP:0000664	Synophrys	7358	UGDH	OMIM:618792
HP:0000664	Synophrys	9772	TMEM94	OMIM:618316
HP:0000664	Synophrys	11128	POLR3A	ORPHA:3455
HP:0000664	Synophrys	2556	GABRA3	OMIM:301091
HP:0000664	Synophrys	10430	TMEM147	OMIM:620075
HP:0000664	Synophrys	51322	WAC	ORPHA:284169
HP:0000664	Synophrys	51322	WAC	OMIM:616708
HP:0000664	Synophrys	51322	WAC	ORPHA:466950
HP:0000664	Synophrys	7030	TFE3	OMIM:301066
HP:0000664	Synophrys	23162	MAPK8IP3	OMIM:618443
HP:0000664	Synophrys	5077	PAX3	OMIM:193500
HP:0000664	Synophrys	5077	PAX3	OMIM:148820
HP:0000664	Synophrys	5077	PAX3	ORPHA:894
HP:0000664	Synophrys	57479	PRR12	OMIM:619539
HP:0000664	Synophrys	6611	SMS	OMIM:309583
HP:0000664	Synophrys	6611	SMS	ORPHA:3063
HP:0000664	Synophrys	25836	NIPBL	OMIM:122470
HP:0000664	Synophrys	25836	NIPBL	ORPHA:199
HP:0000664	Synophrys	23219	FBXO28	OMIM:619777
HP:0000664	Synophrys	79791	FBXO31	OMIM:615979
HP:0000664	Synophrys	85440	DOCK7	OMIM:615859
HP:0000664	Synophrys	85440	DOCK7	ORPHA:411986
HP:0000664	Synophrys	22856	CHSY1	OMIM:605282
HP:0000664	Synophrys	6509	SLC1A4	ORPHA:447997
HP:0000664	Synophrys	7546	ZIC2	OMIM:609637
HP:0000664	Synophrys	55023	PHIP	ORPHA:589905
HP:0000664	Synophrys	55023	PHIP	OMIM:617991
HP:0000664	Synophrys	29123	ANKRD11	OMIM:148050
HP:0000664	Synophrys	29123	ANKRD11	ORPHA:2332
HP:0000664	Synophrys	2702	GJA5	OMIM:612474
HP:0000664	Synophrys	2703	GJA8	OMIM:612474
HP:0000664	Synophrys	6878	TAF6	OMIM:617126
HP:0000664	Synophrys	22907	DHX30	OMIM:617804
HP:0000664	Synophrys	1642	DDB1	OMIM:619426
HP:0000664	Synophrys	7319	UBE2A	ORPHA:163956
HP:0000664	Synophrys	7319	UBE2A	OMIM:300860
HP:0000664	Synophrys	81603	TRIM8	OMIM:619428
HP:0000664	Synophrys	6888	TALDO1	OMIM:606003
HP:0000664	Synophrys	3720	JARID2	OMIM:620098
HP:0000664	Synophrys	9949	AMMECR1	OMIM:300990
HP:0000664	Synophrys	11160	ERLIN2	ORPHA:280384
HP:0000664	Synophrys	11160	ERLIN2	ORPHA:209951
HP:0000664	Synophrys	6448	SGSH	OMIM:252900
HP:0000664	Synophrys	23013	SPEN	OMIM:619312
HP:0000664	Synophrys	8473	OGT	OMIM:300997
HP:0000664	Synophrys	51621	KLF13	OMIM:612001
HP:0000664	Synophrys	1139	CHRNA7	OMIM:612001
HP:0000664	Synophrys	5648	MASP1	OMIM:257920
HP:0000664	Synophrys	55628	ZNF407	OMIM:619557
HP:0000664	Synophrys	23028	KDM1A	OMIM:616728
HP:0000664	Synophrys	23028	KDM1A	ORPHA:477993
HP:0000664	Synophrys	55869	HDAC8	OMIM:300882
HP:0000664	Synophrys	55869	HDAC8	ORPHA:199
HP:0000664	Synophrys	29998	BICRA	OMIM:619325
HP:0000664	Synophrys	113179	ADAT3	ORPHA:363528
HP:0000664	Synophrys	55209	SETD5	OMIM:615761
HP:0000664	Synophrys	23030	KDM4B	OMIM:619320
HP:0000664	Synophrys	3313	HSPA9	OMIM:616854
HP:0000664	Synophrys	998	CDC42	OMIM:616737
HP:0000664	Synophrys	998	CDC42	ORPHA:487796
HP:0000664	Synophrys	4081	MAB21L1	OMIM:618479
HP:0000664	Synophrys	3097	HIVEP2	OMIM:616977
HP:0000664	Synophrys	10982	MAPRE2	OMIM:616734
HP:0000664	Synophrys	1908	EDN3	ORPHA:897
HP:0000664	Synophrys	1910	EDNRB	ORPHA:897
HP:0000664	Synophrys	6663	SOX10	ORPHA:897
HP:0000664	Synophrys	9126	SMC3	OMIM:610759
HP:0000664	Synophrys	9126	SMC3	ORPHA:199
HP:0000664	Synophrys	4131	MAP1B	OMIM:618918
HP:0000664	Synophrys	4784	NFIX	OMIM:602535
HP:0000664	Synophrys	3756	KCNH1	OMIM:135500
HP:0000664	Synophrys	64131	XYLT1	OMIM:615777
HP:0000664	Synophrys	64131	XYLT1	ORPHA:370930
HP:0000664	Synophrys	9969	MED13	OMIM:618009
HP:0000664	Synophrys	1000	CDH2	OMIM:618929
HP:0000664	Synophrys	2248	FGF3	ORPHA:90024
HP:0000664	Synophrys	6792	CDKL5	ORPHA:505652
HP:0000664	Synophrys	8091	HMGA2	ORPHA:94063
HP:0000664	Synophrys	23592	LEMD3	ORPHA:94063
HP:0000664	Synophrys	5718	PSMD12	ORPHA:529962
HP:0000664	Synophrys	2186	BPTF	ORPHA:529962
HP:0000664	Synophrys	80185	TTI2	OMIM:615541
HP:0000664	Synophrys	80185	TTI2	ORPHA:391307
HP:0000664	Synophrys	26040	SETBP1	OMIM:616078
HP:0000664	Synophrys	23476	BRD4	ORPHA:199
HP:0000664	Synophrys	50801	KCNK4	OMIM:618381
HP:0000664	Synophrys	10771	ZMYND11	OMIM:616083
HP:0000664	Synophrys	10664	CTCF	ORPHA:363611
HP:0000664	Synophrys	57003	CCDC47	OMIM:618268
HP:0000664	Synophrys	6711	SPTBN1	OMIM:619475
HP:0000664	Synophrys	5702	PSMC3	OMIM:619354
HP:0000664	Synophrys	29957	SLC25A24	OMIM:612289
HP:0000664	Synophrys	54361	WNT4	ORPHA:247768
HP:0000664	Synophrys	50937	CDON	OMIM:614226
HP:0000664	Synophrys	8405	SPOP	OMIM:618828
HP:0000664	Synophrys	1457	CSNK2A1	OMIM:617062
HP:0000664	Synophrys	7204	TRIO	OMIM:617061
HP:0000664	Synophrys	7204	TRIO	ORPHA:476126
HP:0000664	Synophrys	23556	PIGN	ORPHA:280633
HP:0000664	Synophrys	374879	ZNF699	OMIM:619488
HP:0000664	Synophrys	55617	TASP1	OMIM:618950
HP:0000664	Synophrys	9508	ADAMTS3	OMIM:618154
HP:0000664	Synophrys	8450	CUL4B	ORPHA:85293
HP:0000664	Synophrys	118924	FRA10AC1	OMIM:620113
HP:0000664	Synophrys	93587	TRMT10A	ORPHA:391408
HP:0000664	Synophrys	84919	PPP1R15B	ORPHA:391408
HP:0000664	Synophrys	2799	GNS	OMIM:252940
HP:0000664	Synophrys	6591	SNAI2	ORPHA:2884
HP:0000664	Synophrys	3815	KIT	ORPHA:2884
HP:0000664	Synophrys	2273	FHL1	OMIM:300280
HP:0000664	Synophrys	55252	ASXL2	OMIM:617190
HP:0000664	Synophrys	403	ARL3	OMIM:618161
HP:0000664	Synophrys	6904	TBCD	OMIM:617193
HP:0000664	Synophrys	54888	NSUN2	OMIM:611091
HP:0000664	Synophrys	5879	RAC1	OMIM:617751
HP:0000664	Synophrys	10020	GNE	OMIM:269921
HP:0000664	Synophrys	650	BMP2	OMIM:617877
HP:0000664	Synophrys	23133	PHF8	ORPHA:85287
HP:0000664	Synophrys	23133	PHF8	OMIM:300263
HP:0000664	Synophrys	54187	NANS	OMIM:610442
HP:0000664	Synophrys	138050	HGSNAT	OMIM:252930
HP:0000664	Synophrys	3778	KCNMA1	OMIM:618729
HP:0000664	Synophrys	64802	NMNAT1	OMIM:619260
HP:0000664	Synophrys	11141	IL1RAPL1	OMIM:300143
HP:0000664	Synophrys	284361	EMC10	OMIM:619264
HP:0000664	Synophrys	10844	TUBGCP2	OMIM:618737
HP:0000664	Synophrys	4669	NAGLU	OMIM:252920
HP:0000664	Synophrys	3480	IGF1R	OMIM:270450
HP:0002211	White forelock	4286	MITF	ORPHA:895
HP:0002211	White forelock	4286	MITF	OMIM:193510
HP:0002211	White forelock	4286	MITF	ORPHA:897
HP:0002211	White forelock	7299	TYR	ORPHA:895
HP:0002211	White forelock	6591	SNAI2	ORPHA:895
HP:0002211	White forelock	6591	SNAI2	ORPHA:2884
HP:0002211	White forelock	1910	EDNRB	ORPHA:895
HP:0002211	White forelock	1910	EDNRB	OMIM:277580
HP:0002211	White forelock	1910	EDNRB	ORPHA:897
HP:0002211	White forelock	4254	KITLG	ORPHA:895
HP:0002211	White forelock	4254	KITLG	OMIM:619947
HP:0002211	White forelock	6663	SOX10	ORPHA:895
HP:0002211	White forelock	6663	SOX10	OMIM:613266
HP:0002211	White forelock	6663	SOX10	OMIM:611584
HP:0002211	White forelock	6663	SOX10	OMIM:609136
HP:0002211	White forelock	6663	SOX10	ORPHA:897
HP:0002211	White forelock	5077	PAX3	ORPHA:894
HP:0002211	White forelock	5077	PAX3	OMIM:193500
HP:0002211	White forelock	5077	PAX3	OMIM:148820
HP:0002211	White forelock	3815	KIT	OMIM:172800
HP:0002211	White forelock	3815	KIT	ORPHA:2884
HP:0002211	White forelock	7486	WRN	ORPHA:902
HP:0002211	White forelock	5184	PEPD	ORPHA:742
HP:0002211	White forelock	7020	TFAP2A	OMIM:113620
HP:0002211	White forelock	1908	EDN3	OMIM:613265
HP:0002211	White forelock	1908	EDN3	ORPHA:897
HP:0002211	White forelock	4000	LMNA	ORPHA:79474
HP:0002211	White forelock	7015	TERT	OMIM:613989
HP:0002212	Curly hair	3265	HRAS	ORPHA:79414
HP:0002212	Curly hair	3265	HRAS	OMIM:218040
HP:0002212	Curly hair	8036	SHOC2	OMIM:607721
HP:0002212	Curly hair	1947	EFNB1	OMIM:304110
HP:0002212	Curly hair	8367	H4C5	OMIM:619950
HP:0002212	Curly hair	7062	TCHH	OMIM:617252
HP:0002212	Curly hair	57003	CCDC47	OMIM:618268
HP:0002212	Curly hair	56896	DPYSL5	OMIM:619435
HP:0002212	Curly hair	8216	LZTR1	OMIM:616564
HP:0002212	Curly hair	8216	LZTR1	OMIM:605275
HP:0002212	Curly hair	147183	KRT25	OMIM:616760
HP:0002212	Curly hair	54101	RIPK4	ORPHA:1401
HP:0002212	Curly hair	54101	RIPK4	OMIM:214350
HP:0002212	Curly hair	3845	KRAS	OMIM:615278
HP:0002212	Curly hair	27125	AFF4	OMIM:616368
HP:0002212	Curly hair	27125	AFF4	ORPHA:444077
HP:0002212	Curly hair	6016	RIT1	OMIM:615355
HP:0002212	Curly hair	5604	MAP2K1	OMIM:615279
HP:0002212	Curly hair	8239	USP9X	ORPHA:480880
HP:0002212	Curly hair	5894	RAF1	OMIM:611554
HP:0002212	Curly hair	5894	RAF1	OMIM:611553
HP:0002212	Curly hair	673	BRAF	OMIM:115150
HP:0002212	Curly hair	673	BRAF	OMIM:613707
HP:0002212	Curly hair	673	BRAF	OMIM:613706
HP:0002212	Curly hair	5605	MAP2K2	OMIM:615280
HP:0002212	Curly hair	3728	JUP	OMIM:601214
HP:0002212	Curly hair	3728	JUP	ORPHA:34217
HP:0002212	Curly hair	6651	SON	OMIM:617140
HP:0002212	Curly hair	6651	SON	ORPHA:500150
HP:0002212	Curly hair	4893	NRAS	OMIM:613224
HP:0002212	Curly hair	5500	PPP1CB	OMIM:617506
HP:0002212	Curly hair	10430	TMEM147	OMIM:620075
HP:0002212	Curly hair	9652	SKIC3	OMIM:222470
HP:0002212	Curly hair	8139	GAN	OMIM:256850
HP:0002212	Curly hair	2697	GJA1	ORPHA:2710
HP:0002212	Curly hair	6768	ST14	OMIM:602400
HP:0002212	Curly hair	10087	CERT1	OMIM:616351
HP:0002212	Curly hair	8621	CDK13	OMIM:617360
HP:0002212	Curly hair	3188	HNRNPH2	OMIM:300986
HP:0002212	Curly hair	2475	MTOR	ORPHA:457485
HP:0002212	Curly hair	2475	MTOR	OMIM:616638
HP:0002212	Curly hair	2783	GNB2	OMIM:619503
HP:0002212	Curly hair	200734	SPRED2	OMIM:619745
HP:0002212	Curly hair	6655	SOS2	OMIM:616559
HP:0002212	Curly hair	6654	SOS1	OMIM:610733
HP:0002213	Fine hair	3265	HRAS	ORPHA:79414
HP:0002213	Fine hair	4487	MSX1	OMIM:189500
HP:0002213	Fine hair	4487	MSX1	ORPHA:2228
HP:0002213	Fine hair	26277	TINF2	OMIM:268130
HP:0002213	Fine hair	26277	TINF2	OMIM:613990
HP:0002213	Fine hair	60529	ALX4	OMIM:613451
HP:0002213	Fine hair	60529	ALX4	ORPHA:228390
HP:0002213	Fine hair	100151683	RNU4ATAC	OMIM:210710
HP:0002213	Fine hair	2972	BRF1	OMIM:616202
HP:0002213	Fine hair	2972	BRF1	ORPHA:444072
HP:0002213	Fine hair	23314	SATB2	ORPHA:251028
HP:0002213	Fine hair	23314	SATB2	ORPHA:251019
HP:0002213	Fine hair	5894	RAF1	OMIM:611553
HP:0002213	Fine hair	5831	PYCR1	OMIM:614438
HP:0002213	Fine hair	4952	OCRL	ORPHA:534
HP:0002213	Fine hair	147409	DSG4	ORPHA:573
HP:0002213	Fine hair	3892	KRT86	ORPHA:573
HP:0002213	Fine hair	3889	KRT83	ORPHA:573
HP:0002213	Fine hair	3887	KRT81	ORPHA:573
HP:0002213	Fine hair	79158	GNPTAB	ORPHA:576
HP:0002213	Fine hair	1896	EDA	OMIM:305100
HP:0002213	Fine hair	112802	KRT71	ORPHA:170
HP:0002213	Fine hair	121391	KRT74	ORPHA:170
HP:0002213	Fine hair	121391	KRT74	ORPHA:90368
HP:0002213	Fine hair	200879	LIPH	ORPHA:170
HP:0002213	Fine hair	10161	LPAR6	ORPHA:170
HP:0002213	Fine hair	147183	KRT25	ORPHA:170
HP:0002213	Fine hair	147183	KRT25	OMIM:616760
HP:0002213	Fine hair	51132	RLIM	OMIM:300978
HP:0002213	Fine hair	215	ABCD1	ORPHA:139399
HP:0002213	Fine hair	8260	NAA10	OMIM:300855
HP:0002213	Fine hair	8260	NAA10	ORPHA:276432
HP:0002213	Fine hair	5604	MAP2K1	ORPHA:1340
HP:0002213	Fine hair	5605	MAP2K2	ORPHA:1340
HP:0002213	Fine hair	3845	KRAS	ORPHA:1340
HP:0002213	Fine hair	3845	KRAS	OMIM:615278
HP:0002213	Fine hair	673	BRAF	ORPHA:1340
HP:0002213	Fine hair	80326	WNT10A	OMIM:257980
HP:0002213	Fine hair	80326	WNT10A	ORPHA:248
HP:0002213	Fine hair	55764	IFT122	OMIM:218330
HP:0002213	Fine hair	10804	GJB6	OMIM:129500
HP:0002213	Fine hair	10804	GJB6	ORPHA:189
HP:0002213	Fine hair	2697	GJA1	ORPHA:2710
HP:0002213	Fine hair	2697	GJA1	OMIM:164200
HP:0002213	Fine hair	2697	GJA1	OMIM:257850
HP:0002213	Fine hair	6821	SUOX	OMIM:272300
HP:0002213	Fine hair	9056	SLC7A7	OMIM:222700
HP:0002213	Fine hair	2068	ERCC2	OMIM:601675
HP:0002213	Fine hair	833	CARS1	OMIM:618891
HP:0002213	Fine hair	1001	CDH3	ORPHA:1573
HP:0002213	Fine hair	25942	SIN3A	OMIM:613406
HP:0002213	Fine hair	25942	SIN3A	ORPHA:500166
HP:0002213	Fine hair	10522	DEAF1	OMIM:615828
HP:0002213	Fine hair	9487	PIGL	ORPHA:3474
HP:0002213	Fine hair	9487	PIGL	OMIM:280000
HP:0002213	Fine hair	3981	LIG4	ORPHA:235
HP:0002213	Fine hair	54888	NSUN2	ORPHA:235
HP:0002213	Fine hair	7840	ALMS1	ORPHA:64
HP:0002213	Fine hair	1041	CDSN	ORPHA:90368
HP:0002213	Fine hair	6023	RMRP	OMIM:250250
HP:0002213	Fine hair	8626	TP63	OMIM:129400
HP:0002213	Fine hair	8626	TP63	ORPHA:978
HP:0002213	Fine hair	8626	TP63	ORPHA:1896
HP:0002213	Fine hair	3675	ITGA3	OMIM:614748
HP:0002213	Fine hair	128178	EDARADD	OMIM:129490
HP:0002213	Fine hair	128178	EDARADD	ORPHA:248
HP:0002213	Fine hair	10913	EDAR	OMIM:129490
HP:0002213	Fine hair	10913	EDAR	ORPHA:248
HP:0002213	Fine hair	284252	KCTD1	OMIM:181270
HP:0002213	Fine hair	57459	GATAD2B	ORPHA:363686
HP:0002213	Fine hair	4089	SMAD4	OMIM:139210
HP:0002213	Fine hair	23522	KAT6B	ORPHA:85201
HP:0002213	Fine hair	54676	GTPBP2	OMIM:617988
HP:0002213	Fine hair	50485	SMARCAL1	OMIM:242900
HP:0002213	Fine hair	9968	MED12	OMIM:305450
HP:0002213	Fine hair	84919	PPP1R15B	OMIM:616817
HP:0002213	Fine hair	84919	PPP1R15B	ORPHA:391408
HP:0002213	Fine hair	93587	TRMT10A	ORPHA:391408
HP:0002213	Fine hair	9652	SKIC3	OMIM:222470
HP:0002213	Fine hair	5116	PCNT	ORPHA:2637
HP:0002213	Fine hair	51594	NBAS	OMIM:614800
HP:0002213	Fine hair	2146	EZH2	OMIM:277590
HP:0002213	Fine hair	2146	EZH2	ORPHA:3447
HP:0002213	Fine hair	1476	CSTB	ORPHA:248
HP:0002213	Fine hair	3242	HPD	ORPHA:2118
HP:0002213	Fine hair	117581	TWIST2	ORPHA:920
HP:0002213	Fine hair	64324	NSD1	ORPHA:3447
HP:0002213	Fine hair	8726	EED	ORPHA:3447
HP:0002213	Fine hair	23512	SUZ12	ORPHA:3447
HP:0002213	Fine hair	57539	WDR35	OMIM:614091
HP:0002213	Fine hair	80067	DCAF17	OMIM:241080
HP:0002213	Fine hair	23309	SIN3B	ORPHA:500166
HP:0002213	Fine hair	112752	IFT43	OMIM:614099
HP:0002213	Fine hair	80169	CTC1	OMIM:612199
HP:0002213	Fine hair	867	CBL	OMIM:613563
HP:0002213	Fine hair	7227	TRPS1	OMIM:190350
HP:0002213	Fine hair	81603	TRIM8	OMIM:619428
HP:0002213	Fine hair	8517	IKBKG	OMIM:308300
HP:0002213	Fine hair	1281	COL3A1	ORPHA:2500
HP:0002213	Fine hair	11005	SPINK5	ORPHA:634
HP:0002286	Fair hair	63915	BLOC1S5	OMIM:619172
HP:0002286	Fair hair	5573	PRKAR1A	ORPHA:280651
HP:0002286	Fair hair	5144	PDE4D	ORPHA:280651
HP:0002286	Fair hair	5144	PDE4D	OMIM:614613
HP:0002286	Fair hair	23556	PIGN	ORPHA:280633
HP:0002286	Fair hair	197131	UBR1	OMIM:243800
HP:0002286	Fair hair	284058	KANSL1	ORPHA:363965
HP:0002286	Fair hair	284058	KANSL1	ORPHA:363958
HP:0002286	Fair hair	284058	KANSL1	OMIM:610443
HP:0002286	Fair hair	9742	IFT140	OMIM:266920
HP:0002286	Fair hair	26503	SLC17A5	OMIM:269920
HP:0002286	Fair hair	283652	SLC24A5	OMIM:113750
HP:0002286	Fair hair	6023	RMRP	OMIM:250250
HP:0002286	Fair hair	5053	PAH	OMIM:261600
HP:0002286	Fair hair	10161	LPAR6	OMIM:278150
HP:0002286	Fair hair	6901	TAFAZZIN	OMIM:302060
HP:0002286	Fair hair	7841	MOGS	ORPHA:79330
HP:0002286	Fair hair	8626	TP63	OMIM:103285
HP:0002286	Fair hair	8626	TP63	OMIM:604292
HP:0002286	Fair hair	6638	SNRPN	OMIM:105830
HP:0002286	Fair hair	7337	UBE3A	OMIM:105830
HP:0002286	Fair hair	8546	AP3B1	OMIM:608233
HP:0002286	Fair hair	20	ABCA2	OMIM:618808
HP:0002215	Sparse axillary hair	147495	APCDD1	OMIM:605389
HP:0002215	Sparse axillary hair	8313	AXIN2	OMIM:608615
HP:0002215	Sparse axillary hair	200879	LIPH	OMIM:604379
HP:0002215	Sparse axillary hair	9508	ADAMTS3	ORPHA:2136
HP:0002215	Sparse axillary hair	147372	CCBE1	ORPHA:2136
HP:0002215	Sparse axillary hair	79633	FAT4	ORPHA:2136
HP:0002215	Sparse axillary hair	3122	HLA-DRA	ORPHA:505
HP:0002215	Sparse axillary hair	8626	TP63	OMIM:604292
HP:0002215	Sparse axillary hair	8626	TP63	OMIM:103285
HP:0002215	Sparse axillary hair	10804	GJB6	ORPHA:189
HP:0002215	Sparse axillary hair	284252	KCTD1	OMIM:181270
HP:0002215	Sparse axillary hair	367	AR	OMIM:300068
HP:0002215	Sparse axillary hair	367	AR	ORPHA:99429
HP:0002215	Sparse axillary hair	6926	TBX3	OMIM:181450
HP:0002215	Sparse axillary hair	2488	FSHB	ORPHA:52901
HP:0002215	Sparse axillary hair	3972	LHB	OMIM:228300
HP:0002215	Sparse axillary hair	1528	CYB5A	ORPHA:90796
HP:0002215	Sparse axillary hair	1586	CYP17A1	ORPHA:90796
HP:0002215	Sparse axillary hair	6144	RPL21	OMIM:615885
HP:0002215	Sparse axillary hair	9723	SEMA3E	OMIM:146110
HP:0002215	Sparse axillary hair	558	AXL	OMIM:146110
HP:0002215	Sparse axillary hair	2798	GNRHR	OMIM:146110
HP:0002215	Sparse axillary hair	2796	GNRH1	OMIM:146110
HP:0002215	Sparse axillary hair	10011	SRA1	OMIM:146110
HP:0002215	Sparse axillary hair	55717	WDR11	OMIM:146110
HP:0002215	Sparse axillary hair	8822	FGF17	OMIM:146110
HP:0002215	Sparse axillary hair	1848	DUSP6	OMIM:146110
HP:0002215	Sparse axillary hair	81848	SPRY4	OMIM:146110
HP:0002215	Sparse axillary hair	285025	CCDC141	OMIM:146110
HP:0002215	Sparse axillary hair	389549	FEZF1	OMIM:146110
HP:0002215	Sparse axillary hair	1825	DSC3	OMIM:613102
HP:0002215	Sparse axillary hair	4214	MAP3K1	OMIM:613762
HP:0002215	Sparse axillary hair	4214	MAP3K1	ORPHA:251510
HP:0002215	Sparse axillary hair	10161	LPAR6	OMIM:278150
HP:0002215	Sparse axillary hair	6662	SOX9	ORPHA:251510
HP:0002215	Sparse axillary hair	6845	VAMP7	ORPHA:251510
HP:0002215	Sparse axillary hair	51741	WWOX	ORPHA:251510
HP:0002215	Sparse axillary hair	2516	NR5A1	ORPHA:251510
HP:0002215	Sparse axillary hair	7490	WT1	ORPHA:251510
HP:0002215	Sparse axillary hair	58524	DMRT3	ORPHA:251510
HP:0002215	Sparse axillary hair	57647	DHX37	ORPHA:251510
HP:0002215	Sparse axillary hair	6736	SRY	ORPHA:251510
HP:0002215	Sparse axillary hair	23414	ZFPM2	ORPHA:251510
HP:0002215	Sparse axillary hair	190	NR0B1	ORPHA:251510
HP:0002215	Sparse axillary hair	2626	GATA4	ORPHA:251510
HP:0002215	Sparse axillary hair	5696	PSMB8	OMIM:256040
HP:0002215	Sparse axillary hair	23594	ORC6	OMIM:613803
HP:0002215	Sparse axillary hair	1308	COL17A1	ORPHA:251393
HP:0002215	Sparse axillary hair	3691	ITGB4	ORPHA:251393
HP:0002216	Premature graying of hair	83932	SPRTN	OMIM:616200
HP:0002216	Premature graying of hair	7015	TERT	OMIM:614742
HP:0002216	Premature graying of hair	7015	TERT	OMIM:127550
HP:0002216	Premature graying of hair	7015	TERT	OMIM:613989
HP:0002216	Premature graying of hair	7015	TERT	ORPHA:3322
HP:0002216	Premature graying of hair	7015	TERT	ORPHA:1775
HP:0002216	Premature graying of hair	1161	ERCC8	ORPHA:90324
HP:0002216	Premature graying of hair	2074	ERCC6	ORPHA:90324
HP:0002216	Premature graying of hair	7012	TERC	OMIM:614743
HP:0002216	Premature graying of hair	7012	TERC	OMIM:127550
HP:0002216	Premature graying of hair	7012	TERC	ORPHA:1775
HP:0002216	Premature graying of hair	1736	DKC1	OMIM:305000
HP:0002216	Premature graying of hair	1736	DKC1	ORPHA:3322
HP:0002216	Premature graying of hair	1736	DKC1	ORPHA:1775
HP:0002216	Premature graying of hair	7486	WRN	ORPHA:902
HP:0002216	Premature graying of hair	9401	RECQL4	OMIM:268400
HP:0002216	Premature graying of hair	472	ATM	ORPHA:100
HP:0002216	Premature graying of hair	4644	MYO5A	ORPHA:33445
HP:0002216	Premature graying of hair	4644	MYO5A	ORPHA:79476
HP:0002216	Premature graying of hair	79991	STN1	OMIM:617341
HP:0002216	Premature graying of hair	374879	ZNF699	OMIM:619488
HP:0002216	Premature graying of hair	5073	PARN	OMIM:616371
HP:0002216	Premature graying of hair	5073	PARN	ORPHA:3322
HP:0002216	Premature graying of hair	5073	PARN	ORPHA:1775
HP:0002216	Premature graying of hair	4286	MITF	OMIM:193510
HP:0002216	Premature graying of hair	4286	MITF	ORPHA:897
HP:0002216	Premature graying of hair	4286	MITF	ORPHA:895
HP:0002216	Premature graying of hair	6663	SOX10	OMIM:613266
HP:0002216	Premature graying of hair	6663	SOX10	ORPHA:897
HP:0002216	Premature graying of hair	6663	SOX10	ORPHA:895
HP:0002216	Premature graying of hair	6663	SOX10	ORPHA:163746
HP:0002216	Premature graying of hair	6663	SOX10	OMIM:611584
HP:0002216	Premature graying of hair	1908	EDN3	OMIM:613265
HP:0002216	Premature graying of hair	1908	EDN3	ORPHA:897
HP:0002216	Premature graying of hair	6117	RPA1	OMIM:619767
HP:0002216	Premature graying of hair	1910	EDNRB	OMIM:277580
HP:0002216	Premature graying of hair	1910	EDNRB	ORPHA:897
HP:0002216	Premature graying of hair	1910	EDNRB	ORPHA:895
HP:0002216	Premature graying of hair	26277	TINF2	OMIM:127550
HP:0002216	Premature graying of hair	26277	TINF2	OMIM:613990
HP:0002216	Premature graying of hair	26277	TINF2	ORPHA:3322
HP:0002216	Premature graying of hair	26277	TINF2	ORPHA:1775
HP:0002216	Premature graying of hair	51085	MLXIPL	OMIM:194050
HP:0002216	Premature graying of hair	2006	ELN	OMIM:194050
HP:0002216	Premature graying of hair	7299	TYR	ORPHA:895
HP:0002216	Premature graying of hair	6591	SNAI2	ORPHA:895
HP:0002216	Premature graying of hair	4254	KITLG	ORPHA:895
HP:0002216	Premature graying of hair	4254	KITLG	OMIM:619947
HP:0002216	Premature graying of hair	4000	LMNA	ORPHA:280365
HP:0002216	Premature graying of hair	4000	LMNA	ORPHA:363618
HP:0002216	Premature graying of hair	4000	LMNA	ORPHA:79474
HP:0002216	Premature graying of hair	5077	PAX3	ORPHA:894
HP:0002216	Premature graying of hair	5077	PAX3	OMIM:193500
HP:0002216	Premature graying of hair	5077	PAX3	OMIM:148820
HP:0002216	Premature graying of hair	4193	MDM2	OMIM:618681
HP:0002216	Premature graying of hair	79184	BRCC3	ORPHA:280679
HP:0002216	Premature graying of hair	3643	INSR	ORPHA:769
HP:0002216	Premature graying of hair	51750	RTEL1	ORPHA:3322
HP:0002216	Premature graying of hair	51750	RTEL1	ORPHA:1775
HP:0002216	Premature graying of hair	65057	ACD	ORPHA:3322
HP:0002216	Premature graying of hair	7020	TFAP2A	OMIM:113620
HP:0002216	Premature graying of hair	7020	TFAP2A	ORPHA:1297
HP:0002216	Premature graying of hair	4507	MTAP	OMIM:112250
HP:0002216	Premature graying of hair	80169	CTC1	OMIM:612199
HP:0002216	Premature graying of hair	80169	CTC1	ORPHA:1775
HP:0002216	Premature graying of hair	55651	NHP2	ORPHA:1775
HP:0002216	Premature graying of hair	79650	USB1	ORPHA:1775
HP:0002216	Premature graying of hair	55135	WRAP53	ORPHA:1775
HP:0002216	Premature graying of hair	4869	NPM1	ORPHA:1775
HP:0002216	Premature graying of hair	55505	NOP10	ORPHA:1775
HP:0002216	Premature graying of hair	7298	TYMS	ORPHA:1775
HP:0002216	Premature graying of hair	355	FAS	ORPHA:3437
HP:0002216	Premature graying of hair	26191	PTPN22	ORPHA:3437
HP:0002216	Premature graying of hair	8884	SLC5A6	OMIM:619903
HP:0002216	Premature graying of hair	5696	PSMB8	OMIM:256040
HP:0002216	Premature graying of hair	5873	RAB27A	ORPHA:79477
HP:0002216	Premature graying of hair	25778	DSTYK	OMIM:270750
HP:0002217	Slow-growing hair	128178	EDARADD	OMIM:129490
HP:0002217	Slow-growing hair	10913	EDAR	OMIM:129490
HP:0002217	Slow-growing hair	147409	DSG4	ORPHA:573
HP:0002217	Slow-growing hair	3892	KRT86	ORPHA:573
HP:0002217	Slow-growing hair	3889	KRT83	ORPHA:573
HP:0002217	Slow-growing hair	3887	KRT81	ORPHA:573
HP:0002217	Slow-growing hair	112802	KRT71	ORPHA:170
HP:0002217	Slow-growing hair	200879	LIPH	ORPHA:170
HP:0002217	Slow-growing hair	10161	LPAR6	ORPHA:170
HP:0002217	Slow-growing hair	147183	KRT25	ORPHA:170
HP:0002217	Slow-growing hair	7737	RNF113A	OMIM:300953
HP:0002217	Slow-growing hair	6144	RPL21	OMIM:615885
HP:0002217	Slow-growing hair	8626	TP63	ORPHA:1896
HP:0002217	Slow-growing hair	8626	TP63	OMIM:129400
HP:0002217	Slow-growing hair	7227	TRPS1	OMIM:190350
HP:0002217	Slow-growing hair	673	BRAF	OMIM:115150
HP:0002217	Slow-growing hair	673	BRAF	ORPHA:1340
HP:0002217	Slow-growing hair	5500	PPP1CB	OMIM:617506
HP:0002217	Slow-growing hair	1474	CST6	OMIM:618535
HP:0002217	Slow-growing hair	7025	NR2F1	OMIM:615722
HP:0002217	Slow-growing hair	5604	MAP2K1	ORPHA:1340
HP:0002217	Slow-growing hair	5605	MAP2K2	ORPHA:1340
HP:0002217	Slow-growing hair	3845	KRAS	ORPHA:1340
HP:0002217	Slow-growing hair	2961	GTF2E2	OMIM:616943
HP:0002217	Slow-growing hair	2697	GJA1	OMIM:164200
HP:0002217	Slow-growing hair	2697	GJA1	ORPHA:2710
HP:0002217	Slow-growing hair	55764	IFT122	OMIM:218330
HP:0002217	Slow-growing hair	10804	GJB6	OMIM:129500
HP:0002217	Slow-growing hair	1041	CDSN	ORPHA:90368
HP:0002217	Slow-growing hair	121391	KRT74	ORPHA:90368
HP:0002217	Slow-growing hair	6868	ADAM17	ORPHA:294023
HP:0002217	Slow-growing hair	1956	EGFR	ORPHA:294023
HP:0002218	Silver-gray hair	25778	DSTYK	ORPHA:101003
HP:0002218	Silver-gray hair	5873	RAB27A	OMIM:607624
HP:0002218	Silver-gray hair	1130	LYST	OMIM:214500
HP:0002218	Silver-gray hair	79083	MLPH	OMIM:609227
HP:0002218	Silver-gray hair	388552	BLOC1S3	OMIM:614077
HP:0002218	Silver-gray hair	4644	MYO5A	OMIM:214450
HP:0002219	Facial hypertrichosis	8243	SMC1A	OMIM:300590
HP:0002219	Facial hypertrichosis	8243	SMC1A	OMIM:301044
HP:0002219	Facial hypertrichosis	8243	SMC1A	ORPHA:199
HP:0002219	Facial hypertrichosis	9853	RUSC2	OMIM:617773
HP:0002219	Facial hypertrichosis	23241	PACS2	OMIM:618067
HP:0002219	Facial hypertrichosis	26128	KIFBP	OMIM:609460
HP:0002219	Facial hypertrichosis	6228	RPS23	OMIM:617412
HP:0002219	Facial hypertrichosis	5885	RAD21	OMIM:614701
HP:0002219	Facial hypertrichosis	5885	RAD21	ORPHA:199
HP:0002219	Facial hypertrichosis	7360	UGP2	OMIM:618744
HP:0002219	Facial hypertrichosis	7109	TRAPPC10	OMIM:620027
HP:0002219	Facial hypertrichosis	55777	MBD5	ORPHA:228402
HP:0002219	Facial hypertrichosis	10274	STAG1	ORPHA:502434
HP:0002219	Facial hypertrichosis	9578	CDC42BPB	OMIM:619841
HP:0002219	Facial hypertrichosis	170302	ARX	OMIM:300004
HP:0002219	Facial hypertrichosis	10300	KATNB1	OMIM:616212
HP:0002219	Facial hypertrichosis	80816	ASXL3	OMIM:615485
HP:0002219	Facial hypertrichosis	80816	ASXL3	ORPHA:352577
HP:0002219	Facial hypertrichosis	7552	ZNF711	OMIM:300803
HP:0002219	Facial hypertrichosis	51506	UFC1	OMIM:618076
HP:0002219	Facial hypertrichosis	9442	MED27	OMIM:619286
HP:0002219	Facial hypertrichosis	65082	VPS33A	OMIM:617303
HP:0002219	Facial hypertrichosis	55690	PACS1	OMIM:615009
HP:0002219	Facial hypertrichosis	55690	PACS1	ORPHA:329224
HP:0002219	Facial hypertrichosis	318	NUDT2	OMIM:619844
HP:0002219	Facial hypertrichosis	2314	FLII	ORPHA:819
HP:0002219	Facial hypertrichosis	23096	IQSEC2	ORPHA:819
HP:0002219	Facial hypertrichosis	10743	RAI1	ORPHA:819
HP:0002219	Facial hypertrichosis	10743	RAI1	OMIM:182290
HP:0002219	Facial hypertrichosis	10522	DEAF1	ORPHA:819
HP:0002219	Facial hypertrichosis	5818	NECTIN1	ORPHA:3253
HP:0002219	Facial hypertrichosis	10978	CLP1	OMIM:615803
HP:0002219	Facial hypertrichosis	57082	KNL1	OMIM:604321
HP:0002219	Facial hypertrichosis	26153	KIF26A	OMIM:620156
HP:0002219	Facial hypertrichosis	6595	SMARCA2	OMIM:619293
HP:0002219	Facial hypertrichosis	83696	TRAPPC9	OMIM:613192
HP:0002219	Facial hypertrichosis	83696	TRAPPC9	ORPHA:352530
HP:0002219	Facial hypertrichosis	55870	ASH1L	OMIM:617796
HP:0002219	Facial hypertrichosis	3899	AFF3	OMIM:619297
HP:0002219	Facial hypertrichosis	5119	CHMP1A	OMIM:614961
HP:0002219	Facial hypertrichosis	4853	NOTCH2	OMIM:102500
HP:0002219	Facial hypertrichosis	4853	NOTCH2	ORPHA:955
HP:0002219	Facial hypertrichosis	114034	TOE1	OMIM:614969
HP:0002219	Facial hypertrichosis	2260	FGFR1	ORPHA:3366
HP:0002219	Facial hypertrichosis	2260	FGFR1	OMIM:190440
HP:0002219	Facial hypertrichosis	158326	FREM1	ORPHA:3366
HP:0002219	Facial hypertrichosis	83550	GPR101	ORPHA:963
HP:0002219	Facial hypertrichosis	9049	AIP	ORPHA:963
HP:0002219	Facial hypertrichosis	9377	COX5A	OMIM:619064
HP:0002219	Facial hypertrichosis	6872	TAF1	ORPHA:480907
HP:0002219	Facial hypertrichosis	6872	TAF1	OMIM:300966
HP:0002219	Facial hypertrichosis	171023	ASXL1	ORPHA:97297
HP:0002219	Facial hypertrichosis	23347	SMCHD1	OMIM:603457
HP:0002219	Facial hypertrichosis	10087	CERT1	OMIM:616351
HP:0002219	Facial hypertrichosis	283987	HID1	OMIM:619983
HP:0002219	Facial hypertrichosis	4297	KMT2A	ORPHA:319182
HP:0002219	Facial hypertrichosis	4297	KMT2A	OMIM:605130
HP:0002219	Facial hypertrichosis	23036	ZNF292	OMIM:619188
HP:0002219	Facial hypertrichosis	3340	NDST1	OMIM:616116
HP:0002219	Facial hypertrichosis	23461	ABCA5	ORPHA:2026
HP:0002219	Facial hypertrichosis	79813	EHMT1	OMIM:610253
HP:0002219	Facial hypertrichosis	79813	EHMT1	ORPHA:96147
HP:0002219	Facial hypertrichosis	1009	CDH11	ORPHA:1299
HP:0002219	Facial hypertrichosis	1009	CDH11	OMIM:211380
HP:0002219	Facial hypertrichosis	93627	TBCK	ORPHA:488632
HP:0002219	Facial hypertrichosis	84300	UQCC2	OMIM:615824
HP:0002219	Facial hypertrichosis	2783	GNB2	OMIM:619503
HP:0002219	Facial hypertrichosis	3192	HNRNPU	ORPHA:238769
HP:0002219	Facial hypertrichosis	253738	EBF3	OMIM:617330
HP:0002219	Facial hypertrichosis	26038	CHD5	OMIM:619873
HP:0002219	Facial hypertrichosis	55621	TRMT1	OMIM:618302
HP:0002219	Facial hypertrichosis	1182	CLCN3	OMIM:619512
HP:0002219	Facial hypertrichosis	8558	CDK10	OMIM:617694
HP:0002219	Facial hypertrichosis	55280	CWF19L1	OMIM:616127
HP:0002219	Facial hypertrichosis	55280	CWF19L1	ORPHA:453521
HP:0002219	Facial hypertrichosis	27125	AFF4	OMIM:616368
HP:0002219	Facial hypertrichosis	27125	AFF4	ORPHA:444077
HP:0002219	Facial hypertrichosis	5593	PRKG2	OMIM:619636
HP:0002219	Facial hypertrichosis	54499	TMCO1	OMIM:213980
HP:0002219	Facial hypertrichosis	54499	TMCO1	ORPHA:1394
HP:0002219	Facial hypertrichosis	5727	PTCH1	OMIM:610828
HP:0002219	Facial hypertrichosis	55027	HEATR3	OMIM:620072
HP:0002219	Facial hypertrichosis	26137	ZBTB20	OMIM:259050
HP:0002219	Facial hypertrichosis	26137	ZBTB20	ORPHA:3042
HP:0002219	Facial hypertrichosis	54828	BCAS3	OMIM:619641
HP:0002219	Facial hypertrichosis	4286	MITF	OMIM:193510
HP:0002219	Facial hypertrichosis	4286	MITF	ORPHA:897
HP:0002219	Facial hypertrichosis	56098	PCDHGC4	OMIM:619880
HP:0002219	Facial hypertrichosis	7358	UGDH	OMIM:618792
HP:0002219	Facial hypertrichosis	9772	TMEM94	OMIM:618316
HP:0002219	Facial hypertrichosis	11128	POLR3A	ORPHA:3455
HP:0002219	Facial hypertrichosis	2556	GABRA3	OMIM:301091
HP:0002219	Facial hypertrichosis	10430	TMEM147	OMIM:620075
HP:0002219	Facial hypertrichosis	51322	WAC	ORPHA:284169
HP:0002219	Facial hypertrichosis	51322	WAC	OMIM:616708
HP:0002219	Facial hypertrichosis	51322	WAC	ORPHA:466950
HP:0002219	Facial hypertrichosis	7030	TFE3	OMIM:301066
HP:0002219	Facial hypertrichosis	23162	MAPK8IP3	OMIM:618443
HP:0002219	Facial hypertrichosis	5077	PAX3	OMIM:193500
HP:0002219	Facial hypertrichosis	5077	PAX3	OMIM:148820
HP:0002219	Facial hypertrichosis	5077	PAX3	ORPHA:894
HP:0002219	Facial hypertrichosis	57479	PRR12	OMIM:619539
HP:0002219	Facial hypertrichosis	6611	SMS	OMIM:309583
HP:0002219	Facial hypertrichosis	6611	SMS	ORPHA:3063
HP:0002219	Facial hypertrichosis	25836	NIPBL	OMIM:122470
HP:0002219	Facial hypertrichosis	25836	NIPBL	ORPHA:199
HP:0002219	Facial hypertrichosis	23219	FBXO28	OMIM:619777
HP:0002219	Facial hypertrichosis	79791	FBXO31	OMIM:615979
HP:0002219	Facial hypertrichosis	85440	DOCK7	OMIM:615859
HP:0002219	Facial hypertrichosis	85440	DOCK7	ORPHA:411986
HP:0002219	Facial hypertrichosis	22856	CHSY1	OMIM:605282
HP:0002219	Facial hypertrichosis	6509	SLC1A4	ORPHA:447997
HP:0002219	Facial hypertrichosis	7546	ZIC2	OMIM:609637
HP:0002219	Facial hypertrichosis	55023	PHIP	ORPHA:589905
HP:0002219	Facial hypertrichosis	55023	PHIP	OMIM:617991
HP:0002219	Facial hypertrichosis	29123	ANKRD11	OMIM:148050
HP:0002219	Facial hypertrichosis	29123	ANKRD11	ORPHA:2332
HP:0002219	Facial hypertrichosis	2702	GJA5	OMIM:612474
HP:0002219	Facial hypertrichosis	2703	GJA8	OMIM:612474
HP:0002219	Facial hypertrichosis	6878	TAF6	OMIM:617126
HP:0002219	Facial hypertrichosis	22907	DHX30	OMIM:617804
HP:0002219	Facial hypertrichosis	1642	DDB1	OMIM:619426
HP:0002219	Facial hypertrichosis	7319	UBE2A	ORPHA:163956
HP:0002219	Facial hypertrichosis	7319	UBE2A	OMIM:300860
HP:0002219	Facial hypertrichosis	81603	TRIM8	OMIM:619428
HP:0002219	Facial hypertrichosis	6888	TALDO1	OMIM:606003
HP:0002219	Facial hypertrichosis	3720	JARID2	OMIM:620098
HP:0002219	Facial hypertrichosis	9949	AMMECR1	OMIM:300990
HP:0002219	Facial hypertrichosis	11160	ERLIN2	ORPHA:280384
HP:0002219	Facial hypertrichosis	11160	ERLIN2	ORPHA:209951
HP:0002219	Facial hypertrichosis	6448	SGSH	OMIM:252900
HP:0002219	Facial hypertrichosis	23013	SPEN	OMIM:619312
HP:0002219	Facial hypertrichosis	8473	OGT	OMIM:300997
HP:0002219	Facial hypertrichosis	51621	KLF13	OMIM:612001
HP:0002219	Facial hypertrichosis	1139	CHRNA7	OMIM:612001
HP:0002219	Facial hypertrichosis	5648	MASP1	OMIM:257920
HP:0002219	Facial hypertrichosis	55628	ZNF407	OMIM:619557
HP:0002219	Facial hypertrichosis	23028	KDM1A	OMIM:616728
HP:0002219	Facial hypertrichosis	23028	KDM1A	ORPHA:477993
HP:0002219	Facial hypertrichosis	55869	HDAC8	OMIM:300882
HP:0002219	Facial hypertrichosis	55869	HDAC8	ORPHA:199
HP:0002219	Facial hypertrichosis	29998	BICRA	OMIM:619325
HP:0002219	Facial hypertrichosis	113179	ADAT3	ORPHA:363528
HP:0002219	Facial hypertrichosis	55209	SETD5	OMIM:615761
HP:0002219	Facial hypertrichosis	23030	KDM4B	OMIM:619320
HP:0002219	Facial hypertrichosis	3313	HSPA9	OMIM:616854
HP:0002219	Facial hypertrichosis	998	CDC42	OMIM:616737
HP:0002219	Facial hypertrichosis	998	CDC42	ORPHA:487796
HP:0002219	Facial hypertrichosis	4081	MAB21L1	OMIM:618479
HP:0002219	Facial hypertrichosis	3097	HIVEP2	OMIM:616977
HP:0002219	Facial hypertrichosis	10982	MAPRE2	OMIM:616734
HP:0002219	Facial hypertrichosis	1908	EDN3	ORPHA:897
HP:0002219	Facial hypertrichosis	1910	EDNRB	ORPHA:897
HP:0002219	Facial hypertrichosis	6663	SOX10	ORPHA:897
HP:0002219	Facial hypertrichosis	9126	SMC3	OMIM:610759
HP:0002219	Facial hypertrichosis	9126	SMC3	ORPHA:199
HP:0002219	Facial hypertrichosis	4131	MAP1B	OMIM:618918
HP:0002219	Facial hypertrichosis	4784	NFIX	OMIM:602535
HP:0002219	Facial hypertrichosis	64131	XYLT1	OMIM:615777
HP:0002219	Facial hypertrichosis	64131	XYLT1	ORPHA:370930
HP:0002219	Facial hypertrichosis	9969	MED13	OMIM:618009
HP:0002219	Facial hypertrichosis	1000	CDH2	OMIM:618929
HP:0002219	Facial hypertrichosis	2248	FGF3	ORPHA:90024
HP:0002219	Facial hypertrichosis	6792	CDKL5	ORPHA:505652
HP:0002219	Facial hypertrichosis	8091	HMGA2	ORPHA:94063
HP:0002219	Facial hypertrichosis	23592	LEMD3	ORPHA:94063
HP:0002219	Facial hypertrichosis	5718	PSMD12	ORPHA:529962
HP:0002219	Facial hypertrichosis	2186	BPTF	ORPHA:529962
HP:0002219	Facial hypertrichosis	80185	TTI2	OMIM:615541
HP:0002219	Facial hypertrichosis	80185	TTI2	ORPHA:391307
HP:0002219	Facial hypertrichosis	26040	SETBP1	OMIM:616078
HP:0002219	Facial hypertrichosis	23476	BRD4	ORPHA:199
HP:0002219	Facial hypertrichosis	50801	KCNK4	OMIM:618381
HP:0002219	Facial hypertrichosis	10771	ZMYND11	OMIM:616083
HP:0002219	Facial hypertrichosis	10664	CTCF	ORPHA:363611
HP:0002219	Facial hypertrichosis	57003	CCDC47	OMIM:618268
HP:0002219	Facial hypertrichosis	6711	SPTBN1	OMIM:619475
HP:0002219	Facial hypertrichosis	5702	PSMC3	OMIM:619354
HP:0002219	Facial hypertrichosis	29957	SLC25A24	OMIM:612289
HP:0002219	Facial hypertrichosis	54361	WNT4	ORPHA:247768
HP:0002219	Facial hypertrichosis	50937	CDON	OMIM:614226
HP:0002219	Facial hypertrichosis	8405	SPOP	OMIM:618828
HP:0002219	Facial hypertrichosis	1457	CSNK2A1	OMIM:617062
HP:0002219	Facial hypertrichosis	7204	TRIO	OMIM:617061
HP:0002219	Facial hypertrichosis	7204	TRIO	ORPHA:476126
HP:0002219	Facial hypertrichosis	23556	PIGN	ORPHA:280633
HP:0002219	Facial hypertrichosis	374879	ZNF699	OMIM:619488
HP:0002219	Facial hypertrichosis	55617	TASP1	OMIM:618950
HP:0002219	Facial hypertrichosis	9508	ADAMTS3	OMIM:618154
HP:0002219	Facial hypertrichosis	8450	CUL4B	ORPHA:85293
HP:0002219	Facial hypertrichosis	118924	FRA10AC1	OMIM:620113
HP:0002219	Facial hypertrichosis	93587	TRMT10A	ORPHA:391408
HP:0002219	Facial hypertrichosis	84919	PPP1R15B	ORPHA:391408
HP:0002219	Facial hypertrichosis	2799	GNS	OMIM:252940
HP:0002219	Facial hypertrichosis	6591	SNAI2	ORPHA:2884
HP:0002219	Facial hypertrichosis	3815	KIT	ORPHA:2884
HP:0002219	Facial hypertrichosis	2273	FHL1	OMIM:300280
HP:0002219	Facial hypertrichosis	55252	ASXL2	OMIM:617190
HP:0002219	Facial hypertrichosis	403	ARL3	OMIM:618161
HP:0002219	Facial hypertrichosis	6904	TBCD	OMIM:617193
HP:0002219	Facial hypertrichosis	54888	NSUN2	OMIM:611091
HP:0002219	Facial hypertrichosis	5879	RAC1	OMIM:617751
HP:0002219	Facial hypertrichosis	10020	GNE	OMIM:269921
HP:0002219	Facial hypertrichosis	650	BMP2	OMIM:617877
HP:0002219	Facial hypertrichosis	23133	PHF8	ORPHA:85287
HP:0002219	Facial hypertrichosis	23133	PHF8	OMIM:300263
HP:0002219	Facial hypertrichosis	54187	NANS	OMIM:610442
HP:0002219	Facial hypertrichosis	138050	HGSNAT	OMIM:252930
HP:0002219	Facial hypertrichosis	3778	KCNMA1	OMIM:618729
HP:0002219	Facial hypertrichosis	64802	NMNAT1	OMIM:619260
HP:0002219	Facial hypertrichosis	11141	IL1RAPL1	OMIM:300143
HP:0002219	Facial hypertrichosis	284361	EMC10	OMIM:619264
HP:0002219	Facial hypertrichosis	10844	TUBGCP2	OMIM:618737
HP:0002219	Facial hypertrichosis	4669	NAGLU	OMIM:252920
HP:0002219	Facial hypertrichosis	3480	IGF1R	OMIM:270450
HP:0002219	Facial hypertrichosis	57492	ARID1B	OMIM:135900
HP:0002219	Facial hypertrichosis	22930	RAB3GAP1	OMIM:600118
HP:0002219	Facial hypertrichosis	145173	B3GLCT	OMIM:261540
HP:0002219	Facial hypertrichosis	1387	CREBBP	OMIM:180849
HP:0002219	Facial hypertrichosis	2033	EP300	OMIM:180849
HP:0002219	Facial hypertrichosis	3643	INSR	ORPHA:508
HP:0002219	Facial hypertrichosis	7389	UROD	OMIM:176100
HP:0002219	Facial hypertrichosis	7389	UROD	ORPHA:95159
HP:0002219	Facial hypertrichosis	3077	HFE	OMIM:176100
HP:0002219	Facial hypertrichosis	3782	KCNN3	OMIM:618658
HP:0002219	Facial hypertrichosis	3782	KCNN3	ORPHA:3473
HP:0002219	Facial hypertrichosis	526	ATP6V1B2	ORPHA:3473
HP:0002219	Facial hypertrichosis	3756	KCNH1	ORPHA:3473
HP:0002219	Facial hypertrichosis	7390	UROS	ORPHA:79277
HP:0002219	Facial hypertrichosis	2623	GATA1	ORPHA:79277
HP:0002219	Facial hypertrichosis	57231	SNX14	ORPHA:397709
HP:0002219	Facial hypertrichosis	79796	ALG9	OMIM:263210
HP:0012430	Cerebral white matter hypoplasia	9839	ZEB2	ORPHA:261537
HP:0012430	Cerebral white matter hypoplasia	9839	ZEB2	ORPHA:261552
HP:0012430	Cerebral white matter hypoplasia	29968	PSAT1	ORPHA:284417
HP:0012430	Cerebral white matter hypoplasia	4677	NARS1	OMIM:619091
HP:0012430	Cerebral white matter hypoplasia	23028	KDM1A	ORPHA:477993
HP:0012430	Cerebral white matter hypoplasia	23028	KDM1A	OMIM:616728
HP:0012430	Cerebral white matter hypoplasia	51075	TMX2	OMIM:618730
HP:0012430	Cerebral white matter hypoplasia	2232	FDXR	ORPHA:543470
HP:0012430	Cerebral white matter hypoplasia	10352	WARS2	ORPHA:572798
HP:0012430	Cerebral white matter hypoplasia	112939	NACC1	ORPHA:500545
HP:0012430	Cerebral white matter hypoplasia	92335	STRADA	ORPHA:500533
HP:0012430	Cerebral white matter hypoplasia	6513	SLC2A1	ORPHA:168577
HP:0012431	Episodic fatigue	6521	SLC4A1	ORPHA:3202
HP:0012431	Episodic fatigue	9780	PIEZO1	ORPHA:3202
HP:0012431	Episodic fatigue	3783	KCNN4	ORPHA:3202
HP:0012433	Abnormal social behavior	6638	SNRPN	OMIM:209850
HP:0012433	Abnormal social behavior	388015	RTL1	ORPHA:254531
HP:0012433	Abnormal social behavior	8788	DLK1	ORPHA:254531
HP:0012433	Abnormal social behavior	55384	MEG3	ORPHA:254531
HP:0012433	Abnormal social behavior	83480	PUS3	OMIM:617051
HP:0012433	Abnormal social behavior	10771	ZMYND11	OMIM:616083
HP:0012433	Abnormal social behavior	6535	SLC6A8	OMIM:300352
HP:0012433	Abnormal social behavior	23394	ADNP	ORPHA:404448
HP:0012433	Abnormal social behavior	23394	ADNP	OMIM:615873
HP:0012433	Abnormal social behavior	340533	NEXMIF	OMIM:300912
HP:0012433	Abnormal social behavior	340533	NEXMIF	ORPHA:1942
HP:0012433	Abnormal social behavior	84894	LINGO1	OMIM:618103
HP:0012433	Abnormal social behavior	6711	SPTBN1	OMIM:619475
HP:0012433	Abnormal social behavior	1213	CLTC	OMIM:617854
HP:0012433	Abnormal social behavior	54902	TTC19	OMIM:615157
HP:0012433	Abnormal social behavior	2290	FOXG1	OMIM:613454
HP:0012433	Abnormal social behavior	4983	OPHN1	ORPHA:137831
HP:0012433	Abnormal social behavior	9968	MED12	OMIM:309520
HP:0012433	Abnormal social behavior	85358	SHANK3	OMIM:606232
HP:0012433	Abnormal social behavior	6792	CDKL5	ORPHA:3095
HP:0012433	Abnormal social behavior	22854	NTNG1	ORPHA:3095
HP:0012433	Abnormal social behavior	9568	GABBR2	ORPHA:3095
HP:0012433	Abnormal social behavior	4204	MECP2	ORPHA:3095
HP:0012433	Abnormal social behavior	8243	SMC1A	ORPHA:3095
HP:0012433	Abnormal social behavior	1387	CREBBP	ORPHA:353281
HP:0012433	Abnormal social behavior	1387	CREBBP	ORPHA:353277
HP:0012433	Abnormal social behavior	440138	ALG11	ORPHA:280071
HP:0012433	Abnormal social behavior	22871	NLGN1	OMIM:618830
HP:0012433	Abnormal social behavior	2902	GRIN1	OMIM:617820
HP:0012433	Abnormal social behavior	200424	TET3	OMIM:618798
HP:0012433	Abnormal social behavior	2033	EP300	ORPHA:353284
HP:0012433	Abnormal social behavior	55777	MBD5	OMIM:156200
HP:0012433	Abnormal social behavior	8925	HERC1	ORPHA:457359
HP:0012433	Abnormal social behavior	2898	GRIK2	OMIM:611092
HP:0012433	Abnormal social behavior	4123	MAN2C1	OMIM:619775
HP:0012433	Abnormal social behavior	8831	SYNGAP1	ORPHA:544254
HP:0012433	Abnormal social behavior	8831	SYNGAP1	ORPHA:1942
HP:0012433	Abnormal social behavior	5119	CHMP1A	OMIM:614961
HP:0012433	Abnormal social behavior	26047	CNTNAP2	OMIM:610042
HP:0012433	Abnormal social behavior	10352	WARS2	OMIM:619738
HP:0012433	Abnormal social behavior	10381	TUBB3	ORPHA:300570
HP:0012433	Abnormal social behavior	10716	TBR1	OMIM:606053
HP:0012433	Abnormal social behavior	6513	SLC2A1	ORPHA:1942
HP:0012433	Abnormal social behavior	1173	AP2M1	ORPHA:1942
HP:0012433	Abnormal social behavior	6323	SCN1A	ORPHA:1942
HP:0012433	Abnormal social behavior	1106	CHD2	ORPHA:1942
HP:0012433	Abnormal social behavior	6529	SLC6A1	ORPHA:1942
HP:0012433	Abnormal social behavior	8398	PLA2G6	OMIM:256600
HP:0012433	Abnormal social behavior	54832	VPS13C	ORPHA:2828
HP:0012433	Abnormal social behavior	11315	PARK7	ORPHA:2828
HP:0012433	Abnormal social behavior	7345	UCHL1	ORPHA:2828
HP:0012433	Abnormal social behavior	27429	HTRA2	ORPHA:2828
HP:0012433	Abnormal social behavior	120892	LRRK2	ORPHA:2828
HP:0012433	Abnormal social behavior	9829	DNAJC6	ORPHA:2828
HP:0012433	Abnormal social behavior	6622	SNCA	ORPHA:2828
HP:0012433	Abnormal social behavior	5420	PODXL	ORPHA:2828
HP:0012433	Abnormal social behavior	65018	PINK1	ORPHA:2828
HP:0012433	Abnormal social behavior	8867	SYNJ1	ORPHA:2828
HP:0012433	Abnormal social behavior	5071	PRKN	ORPHA:2828
HP:0012433	Abnormal social behavior	4763	NF1	ORPHA:97685
HP:0012433	Abnormal social behavior	5138	PDE2A	OMIM:619150
HP:0012433	Abnormal social behavior	4137	MAPT	OMIM:600274
HP:0012433	Abnormal social behavior	4137	MAPT	OMIM:172700
HP:0012433	Abnormal social behavior	4948	OCA2	ORPHA:98794
HP:0012433	Abnormal social behavior	158	ADSL	OMIM:103050
HP:0012433	Abnormal social behavior	57459	GATAD2B	OMIM:615074
HP:0012433	Abnormal social behavior	57459	GATAD2B	ORPHA:363686
HP:0012433	Abnormal social behavior	388662	SLC6A17	ORPHA:457212
HP:0012433	Abnormal social behavior	388662	SLC6A17	OMIM:616269
HP:0012433	Abnormal social behavior	10479	SLC9A6	ORPHA:85278
HP:0012433	Abnormal social behavior	94005	PIGS	OMIM:618143
HP:0012433	Abnormal social behavior	1859	DYRK1A	OMIM:614104
HP:0012433	Abnormal social behavior	23102	TBC1D2B	OMIM:619323
HP:0012433	Abnormal social behavior	1436	CSF1R	OMIM:618476
HP:0012433	Abnormal social behavior	4858	NOVA2	OMIM:618859
HP:0012433	Abnormal social behavior	80055	PGAP1	OMIM:615802
HP:0012433	Abnormal social behavior	57194	ATP10A	ORPHA:411515
HP:0012433	Abnormal social behavior	546	ATRX	OMIM:309580
HP:0012433	Abnormal social behavior	2737	GLI3	ORPHA:672
HP:0012433	Abnormal social behavior	10785	WDR4	OMIM:618347
HP:0012433	Abnormal social behavior	9894	TELO2	OMIM:616954
HP:0012433	Abnormal social behavior	7337	UBE3A	OMIM:105830
HP:0012433	Abnormal social behavior	84628	NTNG2	OMIM:618718
HP:0012433	Abnormal social behavior	3028	HSD17B10	ORPHA:391428
HP:0012433	Abnormal social behavior	2137	EXTL3	ORPHA:508533
HP:0012433	Abnormal social behavior	51	ACOX1	OMIM:264470
HP:0012433	Abnormal social behavior	23096	IQSEC2	OMIM:309530
HP:0012433	Abnormal social behavior	81603	TRIM8	OMIM:619428
HP:0012433	Abnormal social behavior	84340	GFM2	ORPHA:565624
HP:0012433	Abnormal social behavior	25970	SH2B1	ORPHA:329249
HP:0012433	Abnormal social behavior	10682	EBP	ORPHA:401973
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309271
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309263
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309256
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309271
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309263
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309256
HP:0012433	Abnormal social behavior	57526	PCDH19	ORPHA:101039
HP:0012433	Abnormal social behavior	2562	GABRB3	ORPHA:64280
HP:0012433	Abnormal social behavior	2554	GABRA1	ORPHA:64280
HP:0012433	Abnormal social behavior	8912	CACNA1H	ORPHA:64280
HP:0012433	Abnormal social behavior	8629	JRK	ORPHA:64280
HP:0012433	Abnormal social behavior	2566	GABRG2	ORPHA:64280
HP:0012433	Abnormal social behavior	3458	IFNG	ORPHA:805
HP:0012433	Abnormal social behavior	7248	TSC1	ORPHA:805
HP:0012433	Abnormal social behavior	7249	TSC2	ORPHA:805
HP:0012433	Abnormal social behavior	26040	SETBP1	ORPHA:436151
HP:0012433	Abnormal social behavior	5663	PSEN1	ORPHA:1020
HP:0012433	Abnormal social behavior	5664	PSEN2	ORPHA:1020
HP:0012433	Abnormal social behavior	10452	TOMM40	ORPHA:1020
HP:0012433	Abnormal social behavior	351	APP	ORPHA:1020
HP:0012433	Abnormal social behavior	54209	TREM2	ORPHA:1020
HP:0012433	Abnormal social behavior	10347	ABCA7	ORPHA:1020
HP:0012433	Abnormal social behavior	6653	SORL1	ORPHA:1020
HP:0012433	Abnormal social behavior	5457	POU4F1	ORPHA:314647
HP:0012433	Abnormal social behavior	23261	CAMTA1	ORPHA:314647
HP:0012433	Abnormal social behavior	11113	CIT	OMIM:617090
HP:0012433	Abnormal social behavior	80856	LNPK	OMIM:618090
HP:0012433	Abnormal social behavior	9227	LRAT	ORPHA:364055
HP:0012433	Abnormal social behavior	55812	SPATA7	ORPHA:364055
HP:0012433	Abnormal social behavior	6121	RPE65	ORPHA:364055
HP:0012433	Abnormal social behavior	167691	LCA5	ORPHA:364055
HP:0012433	Abnormal social behavior	51645	PPIL1	OMIM:619301
HP:0012433	Abnormal social behavior	57511	COG6	ORPHA:363523
HP:0012433	Abnormal social behavior	8812	CCNK	OMIM:618147
HP:0012433	Abnormal social behavior	51362	CDC40	OMIM:619302
HP:0012433	Abnormal social behavior	1496	CTNNA2	OMIM:618174
HP:0012433	Abnormal social behavior	57231	SNX14	OMIM:616354
HP:0012433	Abnormal social behavior	8913	CACNA1G	OMIM:618087
HP:0012433	Abnormal social behavior	160418	TMTC3	OMIM:617255
HP:0012433	Abnormal social behavior	6833	ABCC8	OMIM:618857
HP:0012433	Abnormal social behavior	93986	FOXP2	ORPHA:209908
HP:0012433	Abnormal social behavior	10297	APC2	OMIM:618677
HP:0012433	Abnormal social behavior	79971	WLS	OMIM:619648
HP:0012433	Abnormal social behavior	271	AMPD2	OMIM:615809
HP:0012433	Abnormal social behavior	3708	ITPR1	ORPHA:208513
HP:0012433	Abnormal social behavior	404672	GTF2H5	ORPHA:33364
HP:0012433	Abnormal social behavior	833	CARS1	ORPHA:33364
HP:0012433	Abnormal social behavior	2068	ERCC2	ORPHA:33364
HP:0012433	Abnormal social behavior	7737	RNF113A	ORPHA:33364
HP:0012433	Abnormal social behavior	136647	MPLKIP	ORPHA:33364
HP:0012433	Abnormal social behavior	6897	TARS1	ORPHA:33364
HP:0012433	Abnormal social behavior	2071	ERCC3	ORPHA:33364
HP:0012433	Abnormal social behavior	2961	GTF2E2	ORPHA:33364
HP:0012433	Abnormal social behavior	283489	CHAMP1	OMIM:616579
HP:0012433	Abnormal social behavior	6595	SMARCA2	OMIM:619293
HP:0012433	Abnormal social behavior	83479	DDX59	OMIM:174300
HP:0012433	Abnormal social behavior	6804	STX1A	ORPHA:904
HP:0012433	Abnormal social behavior	7461	CLIP2	ORPHA:904
HP:0012433	Abnormal social behavior	84277	DNAJC30	ORPHA:904
HP:0012433	Abnormal social behavior	8468	FKBP6	ORPHA:904
HP:0012433	Abnormal social behavior	5982	RFC2	ORPHA:904
HP:0012433	Abnormal social behavior	2969	GTF2I	ORPHA:904
HP:0012433	Abnormal social behavior	3984	LIMK1	ORPHA:904
HP:0012433	Abnormal social behavior	9569	GTF2IRD1	ORPHA:904
HP:0012433	Abnormal social behavior	155382	VPS37D	ORPHA:904
HP:0012433	Abnormal social behavior	155368	METTL27	ORPHA:904
HP:0012433	Abnormal social behavior	114049	BUD23	ORPHA:904
HP:0012433	Abnormal social behavior	7458	EIF4H	ORPHA:904
HP:0012433	Abnormal social behavior	84163	GTF2IRD2	ORPHA:904
HP:0012433	Abnormal social behavior	9275	BCL7B	ORPHA:904
HP:0012433	Abnormal social behavior	26608	TBL2	ORPHA:904
HP:0012433	Abnormal social behavior	653361	NCF1	ORPHA:904
HP:0012433	Abnormal social behavior	135886	TMEM270	ORPHA:904
HP:0012433	Abnormal social behavior	51085	MLXIPL	ORPHA:904
HP:0012433	Abnormal social behavior	9031	BAZ1B	ORPHA:904
HP:0012433	Abnormal social behavior	2006	ELN	ORPHA:904
HP:0012433	Abnormal social behavior	284058	KANSL1	ORPHA:363965
HP:0012433	Abnormal social behavior	284058	KANSL1	ORPHA:363958
HP:0012433	Abnormal social behavior	23389	MED13L	ORPHA:369891
HP:0012433	Abnormal social behavior	5283	PIGH	OMIM:618010
HP:0012433	Abnormal social behavior	23126	POGZ	OMIM:616364
HP:0012433	Abnormal social behavior	10717	AP4B1	ORPHA:280763
HP:0012433	Abnormal social behavior	10717	AP4B1	OMIM:614066
HP:0012433	Abnormal social behavior	9179	AP4M1	ORPHA:280763
HP:0012433	Abnormal social behavior	11154	AP4S1	ORPHA:280763
HP:0012433	Abnormal social behavior	11154	AP4S1	OMIM:614067
HP:0012433	Abnormal social behavior	23431	AP4E1	ORPHA:280763
HP:0012433	Abnormal social behavior	23431	AP4E1	OMIM:613744
HP:0012433	Abnormal social behavior	5422	POLA1	OMIM:301030
HP:0012433	Abnormal social behavior	4841	NONO	ORPHA:466791
HP:0012433	Abnormal social behavior	51132	RLIM	OMIM:300978
HP:0012433	Abnormal social behavior	2332	FMR1	ORPHA:449291
HP:0012433	Abnormal social behavior	1806	DPYD	ORPHA:293948
HP:0012433	Abnormal social behavior	57102	C12orf4	OMIM:618221
HP:0012433	Abnormal social behavior	29072	SETD2	OMIM:616831
HP:0012434	Delayed social development	11113	CIT	OMIM:617090
HP:0012434	Delayed social development	80856	LNPK	OMIM:618090
HP:0012434	Delayed social development	9227	LRAT	ORPHA:364055
HP:0012434	Delayed social development	55812	SPATA7	ORPHA:364055
HP:0012434	Delayed social development	6121	RPE65	ORPHA:364055
HP:0012434	Delayed social development	167691	LCA5	ORPHA:364055
HP:0012434	Delayed social development	51645	PPIL1	OMIM:619301
HP:0012434	Delayed social development	57511	COG6	ORPHA:363523
HP:0012434	Delayed social development	8812	CCNK	OMIM:618147
HP:0012434	Delayed social development	51362	CDC40	OMIM:619302
HP:0012434	Delayed social development	1496	CTNNA2	OMIM:618174
HP:0012434	Delayed social development	57231	SNX14	OMIM:616354
HP:0012434	Delayed social development	8913	CACNA1G	OMIM:618087
HP:0012434	Delayed social development	160418	TMTC3	OMIM:617255
HP:0012434	Delayed social development	6833	ABCC8	OMIM:618857
HP:0012434	Delayed social development	10381	TUBB3	ORPHA:300570
HP:0012434	Delayed social development	93986	FOXP2	ORPHA:209908
HP:0012434	Delayed social development	10297	APC2	OMIM:618677
HP:0012434	Delayed social development	79971	WLS	OMIM:619648
HP:0012434	Delayed social development	271	AMPD2	OMIM:615809
HP:0012434	Delayed social development	3708	ITPR1	ORPHA:208513
HP:0012435	Ventral shortening of foreskin	10046	MAMLD1	ORPHA:95706
HP:0012435	Ventral shortening of foreskin	367	AR	ORPHA:95706
HP:0012437	Abnormal gallbladder morphology	27183	VPS4A	OMIM:619273
HP:0012437	Abnormal gallbladder morphology	2235	FECH	OMIM:177000
HP:0012437	Abnormal gallbladder morphology	2235	FECH	ORPHA:79278
HP:0012437	Abnormal gallbladder morphology	57003	CCDC47	OMIM:618268
HP:0012437	Abnormal gallbladder morphology	212	ALAS2	OMIM:300752
HP:0012437	Abnormal gallbladder morphology	1593	CYP27A1	ORPHA:909
HP:0012437	Abnormal gallbladder morphology	1593	CYP27A1	OMIM:213700
HP:0012437	Abnormal gallbladder morphology	7167	TPI1	OMIM:615512
HP:0012437	Abnormal gallbladder morphology	6804	STX1A	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	7461	CLIP2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	84277	DNAJC30	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	8468	FKBP6	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	5982	RFC2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	2969	GTF2I	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	3984	LIMK1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	9569	GTF2IRD1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	155382	VPS37D	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	155368	METTL27	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	114049	BUD23	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	7458	EIF4H	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	84163	GTF2IRD2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	9275	BCL7B	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	26608	TBL2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	653361	NCF1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	135886	TMEM270	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	51085	MLXIPL	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	9031	BAZ1B	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	2006	ELN	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	5205	ATP8B1	OMIM:211600
HP:0012437	Abnormal gallbladder morphology	9780	PIEZO1	OMIM:194380
HP:0012437	Abnormal gallbladder morphology	9780	PIEZO1	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	5314	PKHD1	ORPHA:53035
HP:0012437	Abnormal gallbladder morphology	286	ANK1	OMIM:182900
HP:0012437	Abnormal gallbladder morphology	286	ANK1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	2038	EPB42	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6521	SLC4A1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6521	SLC4A1	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	6710	SPTB	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6710	SPTB	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	6708	SPTA1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6708	SPTA1	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	3043	HBB	ORPHA:231222
HP:0012437	Abnormal gallbladder morphology	3043	HBB	OMIM:603903
HP:0012437	Abnormal gallbladder morphology	6340	SCNN1G	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	6337	SCNN1A	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	6338	SCNN1B	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	5244	ABCB4	ORPHA:69663
HP:0012437	Abnormal gallbladder morphology	5244	ABCB4	OMIM:600803
HP:0012437	Abnormal gallbladder morphology	2642	GCGR	ORPHA:438274
HP:0012437	Abnormal gallbladder morphology	10483	SEC23B	OMIM:224100
HP:0012437	Abnormal gallbladder morphology	3098	HK1	OMIM:235700
HP:0012437	Abnormal gallbladder morphology	644	BLVRA	OMIM:614156
HP:0012437	Abnormal gallbladder morphology	226	ALDOA	OMIM:611881
HP:0012437	Abnormal gallbladder morphology	23600	AMACR	ORPHA:79095
HP:0012437	Abnormal gallbladder morphology	1760	DMPK	OMIM:160900
HP:0012437	Abnormal gallbladder morphology	2658	GDF2	ORPHA:774
HP:0012437	Abnormal gallbladder morphology	94	ACVRL1	ORPHA:774
HP:0012437	Abnormal gallbladder morphology	4089	SMAD4	ORPHA:774
HP:0012437	Abnormal gallbladder morphology	2022	ENG	ORPHA:774
HP:0012437	Abnormal gallbladder morphology	7030	TFE3	OMIM:301066
HP:0012437	Abnormal gallbladder morphology	6609	SMPD1	ORPHA:77293
HP:0012437	Abnormal gallbladder morphology	8242	KDM5C	OMIM:300534
HP:0012437	Abnormal gallbladder morphology	7390	UROS	OMIM:263700
HP:0012437	Abnormal gallbladder morphology	2859	GPR35	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	10507	SEMA4D	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	4485	MST1	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	6925	TCF4	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	326	AIRE	OMIM:240300
HP:0012437	Abnormal gallbladder morphology	2629	GBA1	ORPHA:2072
HP:0012437	Abnormal gallbladder morphology	2821	GPI	OMIM:613470
HP:0012437	Abnormal gallbladder morphology	5213	PFKM	OMIM:232800
HP:0012437	Abnormal gallbladder morphology	81857	MED25	ORPHA:464738
HP:0012437	Abnormal gallbladder morphology	5824	PEX19	OMIM:614886
HP:0012437	Abnormal gallbladder morphology	10020	GNE	ORPHA:3166
HP:0012437	Abnormal gallbladder morphology	1312	COMT	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	221037	JMJD1C	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	2812	GP1BB	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6239	RREB1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6899	TBX1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6899	TBX1	OMIM:188400
HP:0012437	Abnormal gallbladder morphology	7290	HIRA	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	9632	SEC24C	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	7353	UFD1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	421	ARVCF	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	3783	KCNN4	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	2035	EPB41	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	2995	GYPC	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	5313	PKLR	OMIM:266200
HP:0012437	Abnormal gallbladder morphology	171023	ASXL1	ORPHA:97297
HP:0012437	Abnormal gallbladder morphology	8647	ABCB11	OMIM:605479
HP:0012437	Abnormal gallbladder morphology	7386	UQCRFS1	OMIM:618775
HP:0012437	Abnormal gallbladder morphology	64241	ABCG8	OMIM:611465
HP:0012437	Abnormal gallbladder morphology	145173	B3GLCT	OMIM:261540
HP:0012437	Abnormal gallbladder morphology	6309	SC5D	OMIM:607330
HP:0012437	Abnormal gallbladder morphology	2627	GATA6	OMIM:600001
HP:0012437	Abnormal gallbladder morphology	2294	FOXF1	ORPHA:210122
HP:0012437	Abnormal gallbladder morphology	23019	CNOT1	ORPHA:556955
HP:0012437	Abnormal gallbladder morphology	23019	CNOT1	OMIM:618500
HP:0012437	Abnormal gallbladder morphology	6651	SON	OMIM:617140
HP:0012437	Abnormal gallbladder morphology	6651	SON	ORPHA:500150
HP:0012437	Abnormal gallbladder morphology	57545	CC2D2A	OMIM:612284
HP:0012437	Abnormal gallbladder morphology	222546	RFX6	OMIM:615710
HP:0012437	Abnormal gallbladder morphology	27152	INTU	OMIM:617925
HP:0012437	Abnormal gallbladder morphology	1581	CYP7A1	ORPHA:209902
HP:0012437	Abnormal gallbladder morphology	410	ARSA	ORPHA:309271
HP:0012437	Abnormal gallbladder morphology	5660	PSAP	ORPHA:309271
HP:0012438	Abnormal gallbladder physiology	2658	GDF2	ORPHA:774
HP:0012438	Abnormal gallbladder physiology	94	ACVRL1	ORPHA:774
HP:0012438	Abnormal gallbladder physiology	4089	SMAD4	ORPHA:774
HP:0012438	Abnormal gallbladder physiology	2022	ENG	ORPHA:774
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309271
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309256
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309263
HP:0012438	Abnormal gallbladder physiology	7030	TFE3	OMIM:301066
HP:0012438	Abnormal gallbladder physiology	811	CALR	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	3717	JAK2	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	2153	F5	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	2821	GPI	OMIM:613470
HP:0012438	Abnormal gallbladder physiology	7167	TPI1	OMIM:615512
HP:0012438	Abnormal gallbladder physiology	57104	PNPLA2	ORPHA:98908
HP:0012438	Abnormal gallbladder physiology	3514	IGKC	ORPHA:183675
HP:0012438	Abnormal gallbladder physiology	3501	IGHG2	ORPHA:183675
HP:0012438	Abnormal gallbladder physiology	5313	PKLR	OMIM:266200
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	ORPHA:69663
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	OMIM:600803
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	5205	ATP8B1	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	8647	ABCB11	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	9971	NR1H4	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	3098	HK1	OMIM:235700
HP:0012438	Abnormal gallbladder physiology	226	ALDOA	OMIM:611881
HP:0012438	Abnormal gallbladder physiology	4204	MECP2	ORPHA:778
HP:0012438	Abnormal gallbladder physiology	410	ARSA	OMIM:250100
HP:0012432	Chronic fatigue	4088	SMAD3	ORPHA:284984
HP:0012432	Chronic fatigue	4088	SMAD3	OMIM:613795
HP:0012432	Chronic fatigue	7084	TK2	ORPHA:254875
HP:0012432	Chronic fatigue	114548	NLRP3	OMIM:191900
HP:0012432	Chronic fatigue	10625	IVNS1ABP	OMIM:618969
HP:0012432	Chronic fatigue	4194	MDM4	OMIM:618849
HP:0012432	Chronic fatigue	4087	SMAD2	OMIM:619656
HP:0012432	Chronic fatigue	8659	ALDH4A1	ORPHA:79101
HP:0012432	Chronic fatigue	56246	MRAP	ORPHA:361
HP:0012432	Chronic fatigue	6770	STAR	ORPHA:361
HP:0012432	Chronic fatigue	4158	MC2R	ORPHA:361
HP:0012432	Chronic fatigue	23530	NNT	ORPHA:361
HP:0012432	Chronic fatigue	10587	TXNRD2	ORPHA:361
HP:0012432	Chronic fatigue	440275	EIF2AK4	OMIM:234810
HP:0012432	Chronic fatigue	672	BRCA1	ORPHA:1333
HP:0012432	Chronic fatigue	285282	RABL3	ORPHA:1333
HP:0012432	Chronic fatigue	7157	TP53	ORPHA:1333
HP:0012432	Chronic fatigue	675	BRCA2	ORPHA:1333
HP:0012432	Chronic fatigue	3845	KRAS	ORPHA:1333
HP:0012432	Chronic fatigue	1029	CDKN2A	ORPHA:1333
HP:0012432	Chronic fatigue	79728	PALB2	ORPHA:1333
HP:0012432	Chronic fatigue	4089	SMAD4	ORPHA:1333
HP:0012432	Chronic fatigue	23022	PALLD	ORPHA:1333
HP:0012432	Chronic fatigue	5660	PSAP	OMIM:610539
HP:0032864	Focal aware sensory seizure with auditory features	5649	RELN	OMIM:600512
HP:0032864	Focal aware sensory seizure with auditory features	64780	MICAL1	OMIM:600512
HP:0032864	Focal aware sensory seizure with auditory features	9211	LGI1	OMIM:600512
HP:0032864	Focal aware sensory seizure with auditory features	51083	GAL	OMIM:616461
HP:0032867	Refractory status epilepticus	477	ATP1A2	OMIM:619605
HP:0032867	Refractory status epilepticus	539	ATP5PO	OMIM:620359
HP:0002220	Melanin pigment aggregation in hair shafts	5873	RAB27A	OMIM:607624
HP:0002220	Melanin pigment aggregation in hair shafts	4644	MYO5A	OMIM:214450
HP:0002220	Melanin pigment aggregation in hair shafts	1130	LYST	ORPHA:167
HP:0002220	Melanin pigment aggregation in hair shafts	79083	MLPH	OMIM:609227
HP:0002221	Absent axillary hair	10804	GJB6	ORPHA:189
HP:0002221	Absent axillary hair	10804	GJB6	OMIM:129500
HP:0002221	Absent axillary hair	26137	ZBTB20	OMIM:259050
HP:0002221	Absent axillary hair	4047	LSS	OMIM:618275
HP:0002221	Absent axillary hair	348	APOE	OMIM:269600
HP:0002221	Absent axillary hair	3691	ITGB4	OMIM:619816
HP:0002221	Absent axillary hair	55012	PPP2R3C	OMIM:618419
HP:0002221	Absent axillary hair	6635	SNRPE	OMIM:615059
HP:0002221	Absent axillary hair	79574	EPS8L3	OMIM:612841
HP:0002221	Absent axillary hair	2706	GJB2	OMIM:148210
HP:0002221	Absent axillary hair	55806	HR	OMIM:203655
HP:0002221	Absent axillary hair	367	AR	ORPHA:99429
HP:0002221	Absent axillary hair	1586	CYP17A1	ORPHA:90793
HP:0002221	Absent axillary hair	6926	TBX3	ORPHA:3138
HP:0002223	Absent eyebrow	54345	SOX18	OMIM:137940
HP:0002223	Absent eyebrow	54345	SOX18	ORPHA:69735
HP:0002223	Absent eyebrow	54345	SOX18	OMIM:607823
HP:0002223	Absent eyebrow	5317	PKP1	OMIM:604536
HP:0002223	Absent eyebrow	4953	ODC1	OMIM:619075
HP:0002223	Absent eyebrow	4953	ODC1	ORPHA:544488
HP:0002223	Absent eyebrow	8313	AXIN2	OMIM:608615
HP:0002223	Absent eyebrow	1832	DSP	ORPHA:158687
HP:0002223	Absent eyebrow	3728	JUP	ORPHA:158687
HP:0002223	Absent eyebrow	3845	KRAS	OMIM:615278
HP:0002223	Absent eyebrow	673	BRAF	OMIM:115150
HP:0002223	Absent eyebrow	8092	ALX1	OMIM:613456
HP:0002223	Absent eyebrow	128178	EDARADD	OMIM:614941
HP:0002223	Absent eyebrow	64682	ANAPC1	OMIM:618625
HP:0002223	Absent eyebrow	11128	POLR3A	OMIM:264090
HP:0002223	Absent eyebrow	80144	FRAS1	OMIM:219000
HP:0002223	Absent eyebrow	3891	KRT85	OMIM:602032
HP:0002223	Absent eyebrow	55806	HR	ORPHA:701
HP:0002223	Absent eyebrow	55806	HR	OMIM:203655
HP:0002223	Absent eyebrow	10283	CWC27	ORPHA:166035
HP:0002223	Absent eyebrow	9401	RECQL4	OMIM:268400
HP:0002223	Absent eyebrow	10804	GJB6	ORPHA:189
HP:0002223	Absent eyebrow	4000	LMNA	ORPHA:740
HP:0002223	Absent eyebrow	4000	LMNA	ORPHA:363618
HP:0002223	Absent eyebrow	10269	ZMPSTE24	ORPHA:740
HP:0002223	Absent eyebrow	51360	MBTPS2	OMIM:308205
HP:0002223	Absent eyebrow	51360	MBTPS2	ORPHA:2273
HP:0002223	Absent eyebrow	5605	MAP2K2	OMIM:615280
HP:0002223	Absent eyebrow	117581	TWIST2	OMIM:200110
HP:0002223	Absent eyebrow	117581	TWIST2	ORPHA:920
HP:0002223	Absent eyebrow	84946	LTV1	OMIM:620199
HP:0002223	Absent eyebrow	1896	EDA	OMIM:305100
HP:0002223	Absent eyebrow	7390	UROS	OMIM:263700
HP:0002223	Absent eyebrow	5297	PI4KA	ORPHA:436252
HP:0002223	Absent eyebrow	57217	TTC7A	ORPHA:436252
HP:0002223	Absent eyebrow	6595	SMARCA2	OMIM:601358
HP:0002223	Absent eyebrow	54101	RIPK4	OMIM:263650
HP:0002223	Absent eyebrow	2697	GJA1	ORPHA:1010
HP:0002223	Absent eyebrow	89910	UBE3B	ORPHA:2707
HP:0002223	Absent eyebrow	1001	CDH3	ORPHA:1897
HP:0002224	Woolly hair	16	AARS1	OMIM:619691
HP:0002224	Woolly hair	200879	LIPH	OMIM:604379
HP:0002224	Woolly hair	200879	LIPH	ORPHA:170
HP:0002224	Woolly hair	112802	KRT71	ORPHA:170
HP:0002224	Woolly hair	112802	KRT71	OMIM:615896
HP:0002224	Woolly hair	121391	KRT74	ORPHA:170
HP:0002224	Woolly hair	121391	KRT74	OMIM:194300
HP:0002224	Woolly hair	10161	LPAR6	ORPHA:170
HP:0002224	Woolly hair	10161	LPAR6	OMIM:278150
HP:0002224	Woolly hair	147183	KRT25	ORPHA:170
HP:0002224	Woolly hair	57003	CCDC47	OMIM:618268
HP:0002224	Woolly hair	9652	SKIC3	OMIM:222470
HP:0002224	Woolly hair	9652	SKIC3	ORPHA:84064
HP:0002224	Woolly hair	1947	EFNB1	ORPHA:1520
HP:0002224	Woolly hair	6499	SKIC2	OMIM:614602
HP:0002224	Woolly hair	6499	SKIC2	ORPHA:84064
HP:0002224	Woolly hair	8139	GAN	ORPHA:643
HP:0002224	Woolly hair	538	ATP7A	ORPHA:565
HP:0002224	Woolly hair	3265	HRAS	ORPHA:3071
HP:0002224	Woolly hair	136647	MPLKIP	OMIM:234050
HP:0002224	Woolly hair	1832	DSP	OMIM:605676
HP:0002224	Woolly hair	1832	DSP	ORPHA:65282
HP:0002224	Woolly hair	1832	DSP	OMIM:615821
HP:0002224	Woolly hair	1832	DSP	OMIM:607450
HP:0002224	Woolly hair	7286	TUFT1	OMIM:607655
HP:0002224	Woolly hair	3728	JUP	OMIM:601214
HP:0002224	Woolly hair	3728	JUP	ORPHA:34217
HP:0002224	Woolly hair	3728	JUP	OMIM:611528
HP:0002224	Woolly hair	1829	DSG2	OMIM:610193
HP:0002224	Woolly hair	91875	TTC5	OMIM:619244
HP:0002224	Woolly hair	25959	KANK2	OMIM:616099
HP:0002224	Woolly hair	64065	PERP	OMIM:619209
HP:0002224	Woolly hair	64065	PERP	OMIM:619208
HP:0002224	Woolly hair	51702	PADI3	ORPHA:1410
HP:0002224	Woolly hair	7053	TGM3	ORPHA:1410
HP:0002224	Woolly hair	1824	DSC2	OMIM:610476
HP:0002224	Woolly hair	5604	MAP2K1	OMIM:163950
HP:0002224	Woolly hair	5781	PTPN11	OMIM:163950
HP:0002224	Woolly hair	673	BRAF	OMIM:163950
HP:0002225	Sparse pubic hair	668	FOXL2	OMIM:110100
HP:0002225	Sparse pubic hair	147495	APCDD1	OMIM:605389
HP:0002225	Sparse pubic hair	4193	MDM2	OMIM:618681
HP:0002225	Sparse pubic hair	3122	HLA-DRA	ORPHA:505
HP:0002225	Sparse pubic hair	8626	TP63	OMIM:604292
HP:0002225	Sparse pubic hair	10804	GJB6	ORPHA:189
HP:0002225	Sparse pubic hair	29893	PSMC3IP	ORPHA:243
HP:0002225	Sparse pubic hair	171568	POLR3H	ORPHA:243
HP:0002225	Sparse pubic hair	2516	NR5A1	ORPHA:243
HP:0002225	Sparse pubic hair	2516	NR5A1	ORPHA:251510
HP:0002225	Sparse pubic hair	125150	ZSWIM7	ORPHA:243
HP:0002225	Sparse pubic hair	9210	BMP15	ORPHA:243
HP:0002225	Sparse pubic hair	57122	NUP107	ORPHA:243
HP:0002225	Sparse pubic hair	23514	SPIDR	ORPHA:243
HP:0002225	Sparse pubic hair	2492	FSHR	ORPHA:243
HP:0002225	Sparse pubic hair	56945	MRPS22	ORPHA:243
HP:0002225	Sparse pubic hair	646	BNC1	ORPHA:243
HP:0002225	Sparse pubic hair	284252	KCTD1	OMIM:181270
HP:0002225	Sparse pubic hair	3730	ANOS1	OMIM:308700
HP:0002225	Sparse pubic hair	367	AR	OMIM:300068
HP:0002225	Sparse pubic hair	367	AR	ORPHA:99429
HP:0002225	Sparse pubic hair	2488	FSHB	ORPHA:52901
HP:0002225	Sparse pubic hair	3972	LHB	OMIM:228300
HP:0002225	Sparse pubic hair	4047	LSS	OMIM:618275
HP:0002225	Sparse pubic hair	1528	CYB5A	ORPHA:90796
HP:0002225	Sparse pubic hair	1586	CYP17A1	ORPHA:90796
HP:0002225	Sparse pubic hair	6144	RPL21	OMIM:615885
HP:0002225	Sparse pubic hair	9723	SEMA3E	OMIM:146110
HP:0002225	Sparse pubic hair	558	AXL	OMIM:146110
HP:0002225	Sparse pubic hair	2798	GNRHR	OMIM:146110
HP:0002225	Sparse pubic hair	2796	GNRH1	OMIM:146110
HP:0002225	Sparse pubic hair	10011	SRA1	OMIM:146110
HP:0002225	Sparse pubic hair	55717	WDR11	OMIM:146110
HP:0002225	Sparse pubic hair	8822	FGF17	OMIM:146110
HP:0002225	Sparse pubic hair	1848	DUSP6	OMIM:146110
HP:0002225	Sparse pubic hair	81848	SPRY4	OMIM:146110
HP:0002225	Sparse pubic hair	285025	CCDC141	OMIM:146110
HP:0002225	Sparse pubic hair	389549	FEZF1	OMIM:146110
HP:0002225	Sparse pubic hair	55012	PPP2R3C	OMIM:618419
HP:0002225	Sparse pubic hair	6662	SOX9	ORPHA:251510
HP:0002225	Sparse pubic hair	6845	VAMP7	ORPHA:251510
HP:0002225	Sparse pubic hair	51741	WWOX	ORPHA:251510
HP:0002225	Sparse pubic hair	4214	MAP3K1	ORPHA:251510
HP:0002225	Sparse pubic hair	7490	WT1	ORPHA:251510
HP:0002225	Sparse pubic hair	58524	DMRT3	ORPHA:251510
HP:0002225	Sparse pubic hair	57647	DHX37	ORPHA:251510
HP:0002225	Sparse pubic hair	6736	SRY	ORPHA:251510
HP:0002225	Sparse pubic hair	23414	ZFPM2	ORPHA:251510
HP:0002225	Sparse pubic hair	190	NR0B1	ORPHA:251510
HP:0002225	Sparse pubic hair	2626	GATA4	ORPHA:251510
HP:0002225	Sparse pubic hair	23594	ORC6	OMIM:613803
HP:0002225	Sparse pubic hair	1308	COL17A1	ORPHA:251393
HP:0002225	Sparse pubic hair	3691	ITGB4	ORPHA:251393
HP:0002226	White eyebrow	5077	PAX3	ORPHA:894
HP:0002226	White eyebrow	5077	PAX3	OMIM:193500
HP:0002226	White eyebrow	1910	EDNRB	OMIM:600501
HP:0002226	White eyebrow	1910	EDNRB	OMIM:277580
HP:0002226	White eyebrow	1910	EDNRB	ORPHA:897
HP:0002226	White eyebrow	4286	MITF	OMIM:193510
HP:0002226	White eyebrow	4286	MITF	ORPHA:42665
HP:0002226	White eyebrow	4286	MITF	OMIM:103500
HP:0002226	White eyebrow	4286	MITF	ORPHA:897
HP:0002226	White eyebrow	6663	SOX10	OMIM:613266
HP:0002226	White eyebrow	6663	SOX10	OMIM:611584
HP:0002226	White eyebrow	6663	SOX10	OMIM:609136
HP:0002226	White eyebrow	6663	SOX10	ORPHA:897
HP:0002226	White eyebrow	1908	EDN3	OMIM:613265
HP:0002226	White eyebrow	1908	EDN3	ORPHA:897
HP:0002226	White eyebrow	4157	MC1R	ORPHA:79432
HP:0002226	White eyebrow	4948	OCA2	ORPHA:79432
HP:0002226	White eyebrow	7306	TYRP1	ORPHA:79433
HP:0002226	White eyebrow	6591	SNAI2	ORPHA:2884
HP:0002226	White eyebrow	3815	KIT	ORPHA:2884
HP:0002226	White eyebrow	4644	MYO5A	OMIM:214450
HP:0002227	White eyelashes	5077	PAX3	ORPHA:894
HP:0002227	White eyelashes	5077	PAX3	OMIM:193500
HP:0002227	White eyelashes	1910	EDNRB	OMIM:600501
HP:0002227	White eyelashes	1910	EDNRB	OMIM:277580
HP:0002227	White eyelashes	1910	EDNRB	ORPHA:897
HP:0002227	White eyelashes	4286	MITF	OMIM:193510
HP:0002227	White eyelashes	4286	MITF	OMIM:103500
HP:0002227	White eyelashes	4286	MITF	ORPHA:897
HP:0002227	White eyelashes	6663	SOX10	OMIM:613266
HP:0002227	White eyelashes	6663	SOX10	OMIM:611584
HP:0002227	White eyelashes	6663	SOX10	OMIM:609136
HP:0002227	White eyelashes	6663	SOX10	ORPHA:897
HP:0002227	White eyelashes	1908	EDN3	OMIM:613265
HP:0002227	White eyelashes	1908	EDN3	ORPHA:897
HP:0002227	White eyelashes	79083	MLPH	OMIM:609227
HP:0002227	White eyelashes	4157	MC1R	ORPHA:79432
HP:0002227	White eyelashes	4948	OCA2	ORPHA:79432
HP:0002227	White eyelashes	7306	TYRP1	ORPHA:79433
HP:0002227	White eyelashes	6591	SNAI2	ORPHA:2884
HP:0002227	White eyelashes	3815	KIT	ORPHA:2884
HP:0002227	White eyelashes	4644	MYO5A	OMIM:214450
HP:0002232	Patchy alopecia	8626	TP63	OMIM:106260
HP:0002232	Patchy alopecia	147409	DSG4	ORPHA:573
HP:0002232	Patchy alopecia	3892	KRT86	ORPHA:573
HP:0002232	Patchy alopecia	3889	KRT83	ORPHA:573
HP:0002232	Patchy alopecia	3887	KRT81	ORPHA:573
HP:0002232	Patchy alopecia	64840	PORCN	OMIM:305600
HP:0002232	Patchy alopecia	8242	KDM5C	OMIM:300534
HP:0002232	Patchy alopecia	8242	KDM5C	ORPHA:85279
HP:0002232	Patchy alopecia	3914	LAMB3	OMIM:226650
HP:0002232	Patchy alopecia	81607	NECTIN4	OMIM:613573
HP:0002232	Patchy alopecia	3265	HRAS	ORPHA:2874
HP:0002232	Patchy alopecia	55806	HR	ORPHA:701
HP:0002232	Patchy alopecia	10682	EBP	OMIM:302960
HP:0002232	Patchy alopecia	10682	EBP	ORPHA:35173
HP:0002232	Patchy alopecia	641	BLM	ORPHA:125
HP:0002232	Patchy alopecia	284252	KCTD1	OMIM:181270
HP:0002232	Patchy alopecia	4000	LMNA	ORPHA:740
HP:0002232	Patchy alopecia	10269	ZMPSTE24	ORPHA:740
HP:0002232	Patchy alopecia	1893	ECM1	OMIM:247100
HP:0002232	Patchy alopecia	23404	EXOSC2	OMIM:617763
HP:0002232	Patchy alopecia	28755	TRAC	OMIM:615387
HP:0002232	Patchy alopecia	51702	PADI3	ORPHA:1410
HP:0002232	Patchy alopecia	7053	TGM3	ORPHA:1410
HP:0002232	Patchy alopecia	3559	IL2RA	OMIM:606367
HP:0002232	Patchy alopecia	8517	IKBKG	OMIM:308300
HP:0002232	Patchy alopecia	1308	COL17A1	ORPHA:251393
HP:0002232	Patchy alopecia	3691	ITGB4	ORPHA:251393
HP:0012440	Abnormal biliary tract morphology	5828	PEX2	OMIM:614866
HP:0012440	Abnormal biliary tract morphology	5830	PEX5	OMIM:214110
HP:0012440	Abnormal biliary tract morphology	5189	PEX1	OMIM:214100
HP:0012440	Abnormal biliary tract morphology	57545	CC2D2A	OMIM:612284
HP:0012440	Abnormal biliary tract morphology	125988	MICOS13	OMIM:618329
HP:0012440	Abnormal biliary tract morphology	80184	CEP290	OMIM:611134
HP:0012440	Abnormal biliary tract morphology	57539	WDR35	OMIM:613610
HP:0012440	Abnormal biliary tract morphology	3295	HSD17B4	OMIM:261515
HP:0012440	Abnormal biliary tract morphology	9420	CYP7B1	OMIM:613812
HP:0012440	Abnormal biliary tract morphology	9420	CYP7B1	ORPHA:79302
HP:0012440	Abnormal biliary tract morphology	10056	FARSB	OMIM:613658
HP:0012440	Abnormal biliary tract morphology	5428	POLG	OMIM:203700
HP:0012440	Abnormal biliary tract morphology	27031	NPHP3	OMIM:267010
HP:0012440	Abnormal biliary tract morphology	27031	NPHP3	OMIM:208540
HP:0012440	Abnormal biliary tract morphology	54903	MKS1	OMIM:249000
HP:0012440	Abnormal biliary tract morphology	23322	RPGRIP1L	OMIM:611561
HP:0012440	Abnormal biliary tract morphology	5261	PHKG2	OMIM:613027
HP:0012440	Abnormal biliary tract morphology	2542	SLC37A4	OMIM:619525
HP:0012440	Abnormal biliary tract morphology	51259	TMEM216	OMIM:603194
HP:0012440	Abnormal biliary tract morphology	2212	FCGR2A	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	7040	TGFB1	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	1080	CFTR	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	3930	LBR	OMIM:613471
HP:0012440	Abnormal biliary tract morphology	3875	KRT18	OMIM:215600
HP:0012440	Abnormal biliary tract morphology	2629	GBA1	ORPHA:77259
HP:0012440	Abnormal biliary tract morphology	950	SCARB2	ORPHA:77259
HP:0012440	Abnormal biliary tract morphology	9361	LONP1	ORPHA:1458
HP:0012440	Abnormal biliary tract morphology	56623	INPP5E	ORPHA:1454
HP:0012440	Abnormal biliary tract morphology	26123	TCTN3	OMIM:614815
HP:0012440	Abnormal biliary tract morphology	26276	VPS33B	OMIM:208085
HP:0012440	Abnormal biliary tract morphology	2627	GATA6	OMIM:600001
HP:0012440	Abnormal biliary tract morphology	2627	GATA6	ORPHA:2255
HP:0012440	Abnormal biliary tract morphology	222546	RFX6	OMIM:615710
HP:0012440	Abnormal biliary tract morphology	7547	ZIC3	OMIM:306955
HP:0012440	Abnormal biliary tract morphology	2072	ERCC4	OMIM:615272
HP:0012440	Abnormal biliary tract morphology	54914	FOCAD	OMIM:619991
HP:0012440	Abnormal biliary tract morphology	182	JAG1	OMIM:118450
HP:0012440	Abnormal biliary tract morphology	55788	LMBRD1	ORPHA:79284
HP:0012440	Abnormal biliary tract morphology	5195	PEX14	OMIM:614887
HP:0012440	Abnormal biliary tract morphology	4000	LMNA	ORPHA:363618
HP:0012440	Abnormal biliary tract morphology	3594	IL12RB1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	23534	TNPO3	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	3592	IL12A	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	6689	SPIB	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	5450	POU2AF1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	9966	TNFSF15	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	79258	MMEL1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	3663	IRF5	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	199221	DZIP1L	ORPHA:731
HP:0012440	Abnormal biliary tract morphology	5314	PKHD1	ORPHA:731
HP:0012440	Abnormal biliary tract morphology	6718	AKR1D1	ORPHA:79303
HP:0012440	Abnormal biliary tract morphology	2642	GCGR	ORPHA:438274
HP:0012440	Abnormal biliary tract morphology	9742	IFT140	OMIM:266920
HP:0012440	Abnormal biliary tract morphology	50615	IL21R	OMIM:615207
HP:0012440	Abnormal biliary tract morphology	26525	IL36RN	OMIM:614204
HP:0012440	Abnormal biliary tract morphology	83737	ITCH	ORPHA:228426
HP:0012440	Abnormal biliary tract morphology	617	BCS1L	OMIM:124000
HP:0012440	Abnormal biliary tract morphology	3514	IGKC	ORPHA:183675
HP:0012440	Abnormal biliary tract morphology	3501	IGHG2	ORPHA:183675
HP:0012440	Abnormal biliary tract morphology	654	BMP6	ORPHA:465508
HP:0012440	Abnormal biliary tract morphology	3077	HFE	ORPHA:465508
HP:0012440	Abnormal biliary tract morphology	9076	CLDN1	OMIM:607626
HP:0012440	Abnormal biliary tract morphology	5994	RFXAP	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	4261	CIITA	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	5993	RFX5	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	8625	RFXANK	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	5966	REL	OMIM:619652
HP:0012440	Abnormal biliary tract morphology	5244	ABCB4	ORPHA:69663
HP:0012440	Abnormal biliary tract morphology	51473	DCDC2	OMIM:617394
HP:0012440	Abnormal biliary tract morphology	959	CD40LG	OMIM:308230
HP:0012440	Abnormal biliary tract morphology	113220	KIF12	OMIM:619662
HP:0012440	Abnormal biliary tract morphology	9968	MED12	OMIM:301068
HP:0012440	Abnormal biliary tract morphology	91147	TMEM67	OMIM:216360
HP:0012440	Abnormal biliary tract morphology	57728	WDR19	OMIM:614377
HP:0012440	Abnormal biliary tract morphology	57728	WDR19	OMIM:616307
HP:0012440	Abnormal biliary tract morphology	9371	KIF3B	OMIM:618955
HP:0012440	Abnormal biliary tract morphology	79989	IFT56	OMIM:619534
HP:0012440	Abnormal biliary tract morphology	84936	ZFYVE19	OMIM:619849
HP:0012440	Abnormal biliary tract morphology	672	BRCA1	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	675	BRCA2	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	5774	PTPN3	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	6794	STK11	ORPHA:2869
HP:0012440	Abnormal biliary tract morphology	54894	RNF43	ORPHA:157798
HP:0012440	Abnormal biliary tract morphology	410	ARSA	ORPHA:309271
HP:0012440	Abnormal biliary tract morphology	5660	PSAP	ORPHA:309271
HP:0012440	Abnormal biliary tract morphology	2859	GPR35	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	10507	SEMA4D	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	4485	MST1	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	6925	TCF4	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	5297	PI4KA	ORPHA:436252
HP:0012440	Abnormal biliary tract morphology	57217	TTC7A	ORPHA:436252
HP:0012440	Abnormal biliary tract morphology	11198	SUPT16H	OMIM:619480
HP:0012440	Abnormal biliary tract morphology	8239	USP9X	ORPHA:480880
HP:0012444	Brain atrophy	5274	SERPINI1	OMIM:604218
HP:0012444	Brain atrophy	10749	KIF1C	ORPHA:397946
HP:0012444	Brain atrophy	10749	KIF1C	OMIM:611302
HP:0012444	Brain atrophy	4702	NDUFA8	OMIM:619272
HP:0012444	Brain atrophy	3064	HTT	ORPHA:399
HP:0012444	Brain atrophy	3064	HTT	OMIM:617435
HP:0012444	Brain atrophy	6515	SLC2A3	ORPHA:399
HP:0012444	Brain atrophy	27183	VPS4A	OMIM:619273
HP:0012444	Brain atrophy	1497	CTNS	OMIM:219800
HP:0012444	Brain atrophy	10134	BCAP31	OMIM:300475
HP:0012444	Brain atrophy	158	ADSL	OMIM:103050
HP:0012444	Brain atrophy	23394	ADNP	ORPHA:404448
HP:0012444	Brain atrophy	199857	ALG14	OMIM:619036
HP:0012444	Brain atrophy	10617	STAMBP	OMIM:614261
HP:0012444	Brain atrophy	26235	FBXL4	OMIM:615471
HP:0012444	Brain atrophy	1183	CLCN4	OMIM:300114
HP:0012444	Brain atrophy	51102	MECR	ORPHA:508093
HP:0012444	Brain atrophy	5723	PSPH	OMIM:614023
HP:0012444	Brain atrophy	5393	EXOSC9	OMIM:618065
HP:0012444	Brain atrophy	2775	GNAO1	OMIM:615473
HP:0012444	Brain atrophy	2775	GNAO1	OMIM:617493
HP:0012444	Brain atrophy	51569	UFM1	OMIM:617899
HP:0012444	Brain atrophy	6873	TAF2	OMIM:615599
HP:0012444	Brain atrophy	6873	TAF2	ORPHA:397951
HP:0012444	Brain atrophy	10059	DNM1L	OMIM:614388
HP:0012444	Brain atrophy	60684	TRAPPC11	OMIM:615356
HP:0012444	Brain atrophy	60684	TRAPPC11	ORPHA:369847
HP:0012444	Brain atrophy	7355	SLC35A2	ORPHA:356961
HP:0012444	Brain atrophy	7355	SLC35A2	OMIM:300896
HP:0012444	Brain atrophy	1593	CYP27A1	OMIM:213700
HP:0012444	Brain atrophy	81857	MED25	OMIM:616449
HP:0012444	Brain atrophy	81857	MED25	ORPHA:464738
HP:0012444	Brain atrophy	347734	SLC35B2	OMIM:620269
HP:0012444	Brain atrophy	2720	GLB1	OMIM:230600
HP:0012444	Brain atrophy	10466	COG5	OMIM:613612
HP:0012444	Brain atrophy	1786	DNMT1	ORPHA:314404
HP:0012444	Brain atrophy	1786	DNMT1	OMIM:614116
HP:0012444	Brain atrophy	84942	WDR73	OMIM:251300
HP:0012444	Brain atrophy	10667	FARS2	OMIM:614946
HP:0012444	Brain atrophy	80222	TARS2	OMIM:615918
HP:0012444	Brain atrophy	64324	NSD1	ORPHA:821
HP:0012444	Brain atrophy	29072	SETD2	ORPHA:821
HP:0012444	Brain atrophy	10297	APC2	ORPHA:821
HP:0012444	Brain atrophy	154881	KCTD7	ORPHA:263516
HP:0012444	Brain atrophy	154881	KCTD7	OMIM:611726
HP:0012444	Brain atrophy	4552	MTRR	OMIM:236270
HP:0012444	Brain atrophy	4784	NFIX	ORPHA:447980
HP:0012444	Brain atrophy	4784	NFIX	OMIM:602535
HP:0012444	Brain atrophy	57165	GJC2	OMIM:608804
HP:0012444	Brain atrophy	3074	HEXB	ORPHA:309162
HP:0012444	Brain atrophy	162	AP1B1	OMIM:242150
HP:0012444	Brain atrophy	51741	WWOX	OMIM:616211
HP:0012444	Brain atrophy	51741	WWOX	ORPHA:442835
HP:0012444	Brain atrophy	9442	MED27	OMIM:619286
HP:0012444	Brain atrophy	477	ATP1A2	OMIM:619605
HP:0012444	Brain atrophy	477	ATP1A2	ORPHA:442835
HP:0012444	Brain atrophy	101060691	NUTM2B-AS1	OMIM:618637
HP:0012444	Brain atrophy	1841	DTYMK	OMIM:619847
HP:0012444	Brain atrophy	375387	NRROS	OMIM:618875
HP:0012444	Brain atrophy	54982	CLN6	OMIM:204300
HP:0012444	Brain atrophy	80055	PGAP1	OMIM:615802
HP:0012444	Brain atrophy	16	AARS1	OMIM:616339
HP:0012444	Brain atrophy	16	AARS1	ORPHA:442835
HP:0012444	Brain atrophy	5610	EIF2AK2	OMIM:618877
HP:0012444	Brain atrophy	54476	RNF216	OMIM:212840
HP:0012444	Brain atrophy	26580	BSCL2	OMIM:615924
HP:0012444	Brain atrophy	26580	BSCL2	ORPHA:363400
HP:0012444	Brain atrophy	55768	NGLY1	ORPHA:404454
HP:0012444	Brain atrophy	1161	ERCC8	OMIM:216400
HP:0012444	Brain atrophy	26153	KIF26A	OMIM:620156
HP:0012444	Brain atrophy	9382	COG1	OMIM:611209
HP:0012444	Brain atrophy	79693	YRDC	OMIM:619609
HP:0012444	Brain atrophy	51324	SPG21	OMIM:248900
HP:0012444	Brain atrophy	23250	ATP11A	OMIM:619851
HP:0012444	Brain atrophy	7345	UCHL1	OMIM:615491
HP:0012444	Brain atrophy	5105	PCK1	OMIM:261680
HP:0012444	Brain atrophy	64207	IRF2BPL	OMIM:618088
HP:0012444	Brain atrophy	7343	UBTF	OMIM:617672
HP:0012444	Brain atrophy	7343	UBTF	ORPHA:500180
HP:0012444	Brain atrophy	55037	PTCD3	OMIM:619057
HP:0012444	Brain atrophy	91869	RFT1	ORPHA:244310
HP:0012444	Brain atrophy	91869	RFT1	OMIM:612015
HP:0012444	Brain atrophy	7084	TK2	OMIM:609560
HP:0012444	Brain atrophy	7084	TK2	ORPHA:254886
HP:0012444	Brain atrophy	55157	DARS2	ORPHA:137898
HP:0012444	Brain atrophy	2055	CLN8	OMIM:610003
HP:0012444	Brain atrophy	2055	CLN8	ORPHA:1947
HP:0012444	Brain atrophy	2055	CLN8	OMIM:600143
HP:0012444	Brain atrophy	93627	TBCK	OMIM:616900
HP:0012444	Brain atrophy	2260	FGFR1	ORPHA:2396
HP:0012444	Brain atrophy	3845	KRAS	ORPHA:2396
HP:0012444	Brain atrophy	114034	TOE1	OMIM:614969
HP:0012444	Brain atrophy	1509	CTSD	OMIM:610127
HP:0012444	Brain atrophy	2074	ERCC6	OMIM:278800
HP:0012444	Brain atrophy	2074	ERCC6	OMIM:133540
HP:0012444	Brain atrophy	7841	MOGS	OMIM:606056
HP:0012444	Brain atrophy	8772	FADD	OMIM:613759
HP:0012444	Brain atrophy	8772	FADD	ORPHA:306550
HP:0012444	Brain atrophy	54675	CRLS1	OMIM:620167
HP:0012444	Brain atrophy	1716	DGUOK	OMIM:251880
HP:0012444	Brain atrophy	5095	PCCA	OMIM:606054
HP:0012444	Brain atrophy	5096	PCCB	OMIM:606054
HP:0012444	Brain atrophy	8802	SUCLG1	OMIM:245400
HP:0012444	Brain atrophy	8802	SUCLG1	ORPHA:17
HP:0012444	Brain atrophy	57531	HACE1	ORPHA:464282
HP:0012444	Brain atrophy	57531	HACE1	OMIM:616756
HP:0012444	Brain atrophy	7466	WFS1	OMIM:222300
HP:0012444	Brain atrophy	1327	COX4I1	OMIM:619060
HP:0012444	Brain atrophy	833	CARS1	OMIM:618891
HP:0012444	Brain atrophy	5833	PCYT2	OMIM:618770
HP:0012444	Brain atrophy	57178	ZMIZ1	OMIM:618659
HP:0012444	Brain atrophy	55775	TDP1	OMIM:607250
HP:0012444	Brain atrophy	10352	WARS2	ORPHA:572798
HP:0012444	Brain atrophy	10352	WARS2	OMIM:617710
HP:0012444	Brain atrophy	1201	CLN3	OMIM:204200
HP:0012444	Brain atrophy	4338	MOCS2	OMIM:252160
HP:0012444	Brain atrophy	4598	MVK	OMIM:610377
HP:0012444	Brain atrophy	3737	KCNA2	ORPHA:442835
HP:0012444	Brain atrophy	1759	DNM1	ORPHA:442835
HP:0012444	Brain atrophy	8120	AP3B2	ORPHA:442835
HP:0012444	Brain atrophy	8120	AP3B2	OMIM:617276
HP:0012444	Brain atrophy	523	ATP6V1A	ORPHA:442835
HP:0012444	Brain atrophy	523	ATP6V1A	OMIM:618012
HP:0012444	Brain atrophy	10991	SLC38A3	ORPHA:442835
HP:0012444	Brain atrophy	51343	FZR1	ORPHA:442835
HP:0012444	Brain atrophy	22906	TRAK1	ORPHA:442835
HP:0012444	Brain atrophy	2566	GABRG2	ORPHA:442835
HP:0012444	Brain atrophy	1917	EEF1A2	ORPHA:442835
HP:0012444	Brain atrophy	1917	EEF1A2	OMIM:616393
HP:0012444	Brain atrophy	2561	GABRB2	ORPHA:442835
HP:0012444	Brain atrophy	8831	SYNGAP1	ORPHA:442835
HP:0012444	Brain atrophy	7532	YWHAG	ORPHA:442835
HP:0012444	Brain atrophy	79876	UBA5	ORPHA:442835
HP:0012444	Brain atrophy	79876	UBA5	OMIM:617132
HP:0012444	Brain atrophy	6328	SCN3A	ORPHA:442835
HP:0012444	Brain atrophy	2558	GABRA5	ORPHA:442835
HP:0012444	Brain atrophy	781	CACNA2D1	ORPHA:442835
HP:0012444	Brain atrophy	2906	GRIN2D	ORPHA:442835
HP:0012444	Brain atrophy	2906	GRIN2D	OMIM:617162
HP:0012444	Brain atrophy	116150	NUS1	ORPHA:442835
HP:0012444	Brain atrophy	10659	CELF2	ORPHA:442835
HP:0012444	Brain atrophy	774	CACNA1B	ORPHA:442835
HP:0012444	Brain atrophy	774	CACNA1B	OMIM:618497
HP:0012444	Brain atrophy	1213	CLTC	ORPHA:442835
HP:0012444	Brain atrophy	23334	SZT2	ORPHA:442835
HP:0012444	Brain atrophy	51412	ACTL6B	ORPHA:442835
HP:0012444	Brain atrophy	51412	ACTL6B	OMIM:618468
HP:0012444	Brain atrophy	348980	HCN1	ORPHA:442835
HP:0012444	Brain atrophy	6506	SLC1A2	ORPHA:442835
HP:0012444	Brain atrophy	6506	SLC1A2	OMIM:617105
HP:0012444	Brain atrophy	8867	SYNJ1	ORPHA:442835
HP:0012444	Brain atrophy	2258	FGF13	ORPHA:442835
HP:0012444	Brain atrophy	2258	FGF13	OMIM:301058
HP:0012444	Brain atrophy	3745	KCNB1	ORPHA:442835
HP:0012444	Brain atrophy	284111	SLC13A5	ORPHA:442835
HP:0012444	Brain atrophy	25977	NECAP1	ORPHA:442835
HP:0012444	Brain atrophy	6334	SCN8A	ORPHA:442835
HP:0012444	Brain atrophy	6334	SCN8A	OMIM:614558
HP:0012444	Brain atrophy	22866	CNKSR2	ORPHA:442835
HP:0012444	Brain atrophy	9568	GABBR2	ORPHA:442835
HP:0012444	Brain atrophy	2555	GABRA2	ORPHA:442835
HP:0012444	Brain atrophy	55152	DALRD3	ORPHA:442835
HP:0012444	Brain atrophy	773	CACNA1A	ORPHA:442835
HP:0012444	Brain atrophy	26999	CYFIP2	ORPHA:442835
HP:0012444	Brain atrophy	26999	CYFIP2	OMIM:618008
HP:0012444	Brain atrophy	4915	NTRK2	ORPHA:442835
HP:0012444	Brain atrophy	25973	PARS2	ORPHA:442835
HP:0012444	Brain atrophy	23097	CDK19	ORPHA:442835
HP:0012444	Brain atrophy	23097	CDK19	OMIM:618916
HP:0012444	Brain atrophy	64801	ARV1	ORPHA:442835
HP:0012444	Brain atrophy	79947	DHDDS	ORPHA:442835
HP:0012444	Brain atrophy	2257	FGF12	ORPHA:442835
HP:0012444	Brain atrophy	5530	PPP3CA	ORPHA:442835
HP:0012444	Brain atrophy	5530	PPP3CA	OMIM:617711
HP:0012444	Brain atrophy	478	ATP1A3	ORPHA:442835
HP:0012444	Brain atrophy	54872	PIGG	OMIM:616917
HP:0012444	Brain atrophy	26040	SETBP1	OMIM:269150
HP:0012444	Brain atrophy	3265	HRAS	OMIM:218040
HP:0012444	Brain atrophy	5826	ABCD4	OMIM:614857
HP:0012444	Brain atrophy	9895	TECPR2	OMIM:615031
HP:0012444	Brain atrophy	9895	TECPR2	ORPHA:320385
HP:0012444	Brain atrophy	51604	PIGT	OMIM:615398
HP:0012444	Brain atrophy	84504	NKX6-2	ORPHA:527497
HP:0012444	Brain atrophy	23126	POGZ	OMIM:616364
HP:0012444	Brain atrophy	56006	SMG9	OMIM:616920
HP:0012444	Brain atrophy	54902	TTC19	OMIM:615157
HP:0012444	Brain atrophy	92609	TIMM50	OMIM:617698
HP:0012444	Brain atrophy	92609	TIMM50	ORPHA:505216
HP:0012444	Brain atrophy	51692	CPSF3	OMIM:619876
HP:0012444	Brain atrophy	285175	UNC80	OMIM:616801
HP:0012444	Brain atrophy	8021	NUP214	OMIM:618426
HP:0012444	Brain atrophy	90624	LYRM7	OMIM:615838
HP:0012444	Brain atrophy	10056	FARSB	OMIM:613658
HP:0012444	Brain atrophy	5428	POLG	OMIM:203700
HP:0012444	Brain atrophy	5428	POLG	ORPHA:254886
HP:0012444	Brain atrophy	79751	SLC25A22	OMIM:609304
HP:0012444	Brain atrophy	285362	SUMF1	OMIM:272200
HP:0012444	Brain atrophy	56052	ALG1	ORPHA:79327
HP:0012444	Brain atrophy	56052	ALG1	OMIM:608540
HP:0012444	Brain atrophy	79796	ALG9	ORPHA:79328
HP:0012444	Brain atrophy	5521	PPP2R2B	ORPHA:98762
HP:0012444	Brain atrophy	54828	BCAS3	OMIM:619641
HP:0012444	Brain atrophy	253959	RALGAPA1	OMIM:618797
HP:0012444	Brain atrophy	8481	OFD1	OMIM:311200
HP:0012444	Brain atrophy	64135	IFIH1	OMIM:615846
HP:0012444	Brain atrophy	10531	PITRM1	OMIM:619405
HP:0012444	Brain atrophy	256471	MFSD8	OMIM:610951
HP:0012444	Brain atrophy	23065	EMC1	ORPHA:480898
HP:0012444	Brain atrophy	23065	EMC1	OMIM:616875
HP:0012444	Brain atrophy	55343	SLC35C1	ORPHA:99843
HP:0012444	Brain atrophy	2271	FH	OMIM:606812
HP:0012444	Brain atrophy	23556	PIGN	OMIM:614080
HP:0012444	Brain atrophy	11152	WDR45	OMIM:300894
HP:0012444	Brain atrophy	11152	WDR45	ORPHA:329284
HP:0012444	Brain atrophy	22880	MORC2	OMIM:619090
HP:0012444	Brain atrophy	55739	NAXD	OMIM:618321
HP:0012444	Brain atrophy	23162	MAPK8IP3	OMIM:618443
HP:0012444	Brain atrophy	5917	RARS1	OMIM:616140
HP:0012444	Brain atrophy	259232	NALCN	OMIM:616266
HP:0012444	Brain atrophy	339855	KY	ORPHA:496689
HP:0012444	Brain atrophy	55275	VPS53	OMIM:615851
HP:0012444	Brain atrophy	3785	KCNQ2	ORPHA:439218
HP:0012444	Brain atrophy	29960	MRM2	OMIM:618567
HP:0012444	Brain atrophy	23219	FBXO28	OMIM:619777
HP:0012444	Brain atrophy	5824	PEX19	OMIM:614886
HP:0012444	Brain atrophy	23189	KANK1	OMIM:612900
HP:0012444	Brain atrophy	57704	GBA2	OMIM:614409
HP:0012444	Brain atrophy	57704	GBA2	ORPHA:352641
HP:0012444	Brain atrophy	57704	GBA2	ORPHA:320391
HP:0012444	Brain atrophy	85021	REPS1	OMIM:617916
HP:0012444	Brain atrophy	8813	DPM1	ORPHA:79322
HP:0012444	Brain atrophy	6314	ATXN7	ORPHA:94147
HP:0012444	Brain atrophy	28962	OSTM1	OMIM:259720
HP:0012444	Brain atrophy	28962	OSTM1	ORPHA:85179
HP:0012444	Brain atrophy	10195	ALG3	OMIM:601110
HP:0012444	Brain atrophy	26100	WIPI2	OMIM:618453
HP:0012444	Brain atrophy	10533	ATG7	OMIM:619422
HP:0012444	Brain atrophy	10159	ATP6AP2	OMIM:300423
HP:0012444	Brain atrophy	7040	TGFB1	OMIM:618213
HP:0012444	Brain atrophy	81570	CLPB	OMIM:616271
HP:0012444	Brain atrophy	81570	CLPB	ORPHA:445038
HP:0012444	Brain atrophy	133686	NADK2	OMIM:616034
HP:0012444	Brain atrophy	51693	TRAPPC2L	OMIM:618331
HP:0012444	Brain atrophy	84188	FAR1	OMIM:616154
HP:0012444	Brain atrophy	57017	COQ9	OMIM:614654
HP:0012444	Brain atrophy	27429	HTRA2	OMIM:617248
HP:0012444	Brain atrophy	22907	DHX30	OMIM:617804
HP:0012444	Brain atrophy	58497	PRUNE1	ORPHA:544469
HP:0012444	Brain atrophy	51013	EXOSC1	OMIM:619304
HP:0012444	Brain atrophy	7407	VARS1	OMIM:617802
HP:0012444	Brain atrophy	8260	NAA10	ORPHA:276432
HP:0012444	Brain atrophy	8260	NAA10	OMIM:300855
HP:0012444	Brain atrophy	26123	TCTN3	OMIM:258860
HP:0012444	Brain atrophy	10075	HUWE1	OMIM:309590
HP:0012444	Brain atrophy	6309	SC5D	OMIM:607330
HP:0012444	Brain atrophy	6323	SCN1A	OMIM:607208
HP:0012444	Brain atrophy	91949	COG7	OMIM:608779
HP:0012444	Brain atrophy	4137	MAPT	OMIM:601104
HP:0012444	Brain atrophy	9759	HDAC4	OMIM:619797
HP:0012444	Brain atrophy	79621	RNASEH2B	OMIM:610181
HP:0012444	Brain atrophy	23516	SLC39A14	OMIM:617013
HP:0012444	Brain atrophy	23516	SLC39A14	ORPHA:521406
HP:0012444	Brain atrophy	8506	CNTNAP1	OMIM:616286
HP:0012444	Brain atrophy	7167	TPI1	OMIM:615512
HP:0012444	Brain atrophy	64116	SLC39A8	OMIM:616721
HP:0012444	Brain atrophy	132	ADK	OMIM:614300
HP:0012444	Brain atrophy	6513	SLC2A1	OMIM:612126
HP:0012444	Brain atrophy	53616	ADAM22	OMIM:617933
HP:0012444	Brain atrophy	9526	MPDU1	OMIM:609180
HP:0012444	Brain atrophy	546	ATRX	OMIM:301040
HP:0012444	Brain atrophy	4838	NODAL	OMIM:270100
HP:0012444	Brain atrophy	8050	PDHX	ORPHA:255182
HP:0012444	Brain atrophy	128869	PIGU	OMIM:618590
HP:0012444	Brain atrophy	10733	PLK4	OMIM:616171
HP:0012444	Brain atrophy	9150	CTDP1	OMIM:604168
HP:0012444	Brain atrophy	9131	AIFM1	ORPHA:83629
HP:0012444	Brain atrophy	57465	TBC1D24	OMIM:220500
HP:0012444	Brain atrophy	57465	TBC1D24	OMIM:615338
HP:0012444	Brain atrophy	11277	TREX1	OMIM:225750
HP:0012444	Brain atrophy	4695	NDUFA2	OMIM:618235
HP:0012444	Brain atrophy	79868	ALG13	OMIM:300884
HP:0012444	Brain atrophy	5859	QARS1	OMIM:615760
HP:0012444	Brain atrophy	57520	HECW2	OMIM:617268
HP:0012444	Brain atrophy	5160	PDHA1	OMIM:312170
HP:0012444	Brain atrophy	5160	PDHA1	ORPHA:79243
HP:0012444	Brain atrophy	1806	DPYD	OMIM:274270
HP:0012444	Brain atrophy	1806	DPYD	ORPHA:1675
HP:0012444	Brain atrophy	112939	NACC1	ORPHA:500545
HP:0012444	Brain atrophy	112939	NACC1	OMIM:617393
HP:0012444	Brain atrophy	51010	EXOSC3	OMIM:614678
HP:0012444	Brain atrophy	54822	TRPM7	OMIM:105500
HP:0012444	Brain atrophy	1760	DMPK	OMIM:160900
HP:0012444	Brain atrophy	2891	GRIA2	OMIM:618917
HP:0012444	Brain atrophy	5934	RBL2	OMIM:619690
HP:0012444	Brain atrophy	79709	COLGALT1	OMIM:618360
HP:0012444	Brain atrophy	5071	PRKN	OMIM:600116
HP:0012444	Brain atrophy	84340	GFM2	ORPHA:565624
HP:0012444	Brain atrophy	84340	GFM2	OMIM:618397
HP:0012444	Brain atrophy	63925	ZNF335	OMIM:615095
HP:0012444	Brain atrophy	22930	RAB3GAP1	OMIM:600118
HP:0012444	Brain atrophy	4704	NDUFA9	OMIM:618247
HP:0012444	Brain atrophy	55906	ZC4H2	OMIM:314580
HP:0012444	Brain atrophy	23732	FRRS1L	OMIM:616981
HP:0012444	Brain atrophy	79641	ROGDI	OMIM:226750
HP:0012444	Brain atrophy	6601	SMARCC2	OMIM:618362
HP:0012444	Brain atrophy	6709	SPTAN1	OMIM:613477
HP:0012444	Brain atrophy	2058	EPRS1	OMIM:617951
HP:0012444	Brain atrophy	7965	AIMP2	OMIM:618006
HP:0012444	Brain atrophy	80746	TSEN2	OMIM:612389
HP:0012444	Brain atrophy	2917	GRM7	OMIM:618922
HP:0012444	Brain atrophy	29940	DSE	OMIM:615539
HP:0012444	Brain atrophy	9361	LONP1	ORPHA:79243
HP:0012444	Brain atrophy	549	AUH	OMIM:250950
HP:0012444	Brain atrophy	56652	TWNK	OMIM:609286
HP:0012444	Brain atrophy	6821	SUOX	OMIM:272300
HP:0012444	Brain atrophy	1781	DYNC1I2	OMIM:618492
HP:0012444	Brain atrophy	5422	POLA1	OMIM:301030
HP:0012444	Brain atrophy	5611	DNAJC3	OMIM:616192
HP:0012444	Brain atrophy	5611	DNAJC3	ORPHA:445062
HP:0012444	Brain atrophy	127833	SYT2	OMIM:619461
HP:0012444	Brain atrophy	4714	NDUFB8	OMIM:618252
HP:0012444	Brain atrophy	1822	ATN1	OMIM:618494
HP:0012444	Brain atrophy	4761	NEUROD2	OMIM:618374
HP:0012444	Brain atrophy	84896	ATAD1	OMIM:618011
HP:0012444	Brain atrophy	57511	COG6	OMIM:614576
HP:0012444	Brain atrophy	175	AGA	OMIM:208400
HP:0012444	Brain atrophy	25839	COG4	OMIM:613489
HP:0012444	Brain atrophy	128989	TANGO2	OMIM:616878
HP:0012444	Brain atrophy	55644	OSGEP	OMIM:617729
HP:0012444	Brain atrophy	57572	DOCK6	OMIM:614219
HP:0012444	Brain atrophy	220296	HEPACAM	OMIM:613925
HP:0012444	Brain atrophy	4548	MTR	OMIM:250940
HP:0012444	Brain atrophy	2313	FLI1	ORPHA:2308
HP:0012444	Brain atrophy	3028	HSD17B10	ORPHA:391428
HP:0012444	Brain atrophy	9997	SCO2	OMIM:604377
HP:0012444	Brain atrophy	83480	PUS3	OMIM:617051
HP:0012444	Brain atrophy	8943	AP3D1	OMIM:617050
HP:0012444	Brain atrophy	80347	COASY	OMIM:618266
HP:0012444	Brain atrophy	57498	KIDINS220	OMIM:617296
HP:0012444	Brain atrophy	3975	LHX1	ORPHA:261265
HP:0012444	Brain atrophy	6928	HNF1B	ORPHA:261265
HP:0012444	Brain atrophy	57003	CCDC47	OMIM:618268
HP:0012444	Brain atrophy	51095	TRNT1	OMIM:616084
HP:0012444	Brain atrophy	112858	TP53RK	OMIM:617730
HP:0012444	Brain atrophy	11019	LIAS	OMIM:614462
HP:0012444	Brain atrophy	8270	LAGE3	OMIM:301006
HP:0012444	Brain atrophy	6812	STXBP1	OMIM:612164
HP:0012444	Brain atrophy	94005	PIGS	OMIM:618143
HP:0012444	Brain atrophy	145173	B3GLCT	OMIM:261540
HP:0012444	Brain atrophy	57468	SLC12A5	OMIM:616645
HP:0012444	Brain atrophy	2517	FUCA1	OMIM:230000
HP:0012444	Brain atrophy	4337	MOCS1	OMIM:252150
HP:0012444	Brain atrophy	23040	MYT1L	OMIM:616521
HP:0012444	Brain atrophy	3704	ITPA	OMIM:616647
HP:0012444	Brain atrophy	51091	SEPSECS	OMIM:613811
HP:0012444	Brain atrophy	25914	RTTN	ORPHA:468631
HP:0012444	Brain atrophy	203228	C9orf72	OMIM:105550
HP:0012444	Brain atrophy	80781	COL18A1	OMIM:267750
HP:0012444	Brain atrophy	2571	GAD1	OMIM:619124
HP:0012444	Brain atrophy	100147744	RNU7-1	OMIM:619487
HP:0012444	Brain atrophy	90522	YIF1B	OMIM:619125
HP:0012444	Brain atrophy	2760	GM2A	ORPHA:309246
HP:0012444	Brain atrophy	2760	GM2A	OMIM:272750
HP:0012444	Brain atrophy	440138	ALG11	ORPHA:280071
HP:0012444	Brain atrophy	51715	RAB23	OMIM:201000
HP:0012444	Brain atrophy	91875	TTC5	OMIM:619244
HP:0012444	Brain atrophy	134353	LSM11	OMIM:619486
HP:0012444	Brain atrophy	1200	TPP1	OMIM:204500
HP:0012444	Brain atrophy	57038	RARS2	OMIM:611523
HP:0012444	Brain atrophy	6509	SLC1A4	OMIM:616657
HP:0012444	Brain atrophy	6663	SOX10	OMIM:609136
HP:0012444	Brain atrophy	617	BCS1L	OMIM:124000
HP:0012444	Brain atrophy	4094	MAF	OMIM:601088
HP:0012444	Brain atrophy	95	ACY1	OMIM:609924
HP:0012444	Brain atrophy	10084	PQBP1	OMIM:309500
HP:0012444	Brain atrophy	54802	TRIT1	OMIM:617873
HP:0012444	Brain atrophy	29920	PYCR2	OMIM:616420
HP:0012444	Brain atrophy	84231	TRAF7	OMIM:618164
HP:0012444	Brain atrophy	26503	SLC17A5	OMIM:269920
HP:0012444	Brain atrophy	9197	SLC33A1	OMIM:614482
HP:0012444	Brain atrophy	200205	IBA57	OMIM:615330
HP:0012444	Brain atrophy	10274	STAG1	OMIM:617635
HP:0012444	Brain atrophy	5538	PPT1	OMIM:256730
HP:0012444	Brain atrophy	2733	GLE1	OMIM:611890
HP:0012444	Brain atrophy	9487	PIGL	OMIM:280000
HP:0012444	Brain atrophy	727676	SNORD118	ORPHA:542310
HP:0012444	Brain atrophy	54187	NANS	OMIM:610442
HP:0012444	Brain atrophy	2806	GOT2	OMIM:618721
HP:0012444	Brain atrophy	25974	MMACHC	ORPHA:79282
HP:0012444	Brain atrophy	1719	DHFR	OMIM:613839
HP:0012444	Brain atrophy	3778	KCNMA1	OMIM:618729
HP:0012444	Brain atrophy	4668	NAGA	OMIM:609242
HP:0012444	Brain atrophy	54936	ADPRS	OMIM:618170
HP:0012444	Brain atrophy	64802	NMNAT1	OMIM:619260
HP:0012444	Brain atrophy	2629	GBA1	OMIM:230900
HP:0012444	Brain atrophy	51075	TMX2	OMIM:618730
HP:0012444	Brain atrophy	8884	SLC5A6	OMIM:618973
HP:0012444	Brain atrophy	7305	TYROBP	OMIM:221770
HP:0012444	Brain atrophy	55331	ACER3	OMIM:617762
HP:0012444	Brain atrophy	2902	GRIN1	OMIM:614254
HP:0012444	Brain atrophy	8803	SUCLA2	OMIM:612073
HP:0012444	Brain atrophy	92935	MARS2	OMIM:616430
HP:0012444	Brain atrophy	79587	CARS2	OMIM:616672
HP:0012444	Brain atrophy	22827	PUF60	OMIM:615583
HP:0012444	Brain atrophy	85378	TUBGCP6	OMIM:251270
HP:0012444	Brain atrophy	8398	PLA2G6	OMIM:256600
HP:0012444	Brain atrophy	8398	PLA2G6	OMIM:610217
HP:0012444	Brain atrophy	547	KIF1A	OMIM:614255
HP:0012444	Brain atrophy	10535	RNASEH2A	OMIM:610333
HP:0012444	Brain atrophy	55753	OGDHL	OMIM:619701
HP:0012444	Brain atrophy	22868	FASTKD2	OMIM:618855
HP:0012444	Brain atrophy	27445	PCLO	OMIM:608027
HP:0012444	Brain atrophy	374654	KIF7	ORPHA:166024
HP:0012444	Brain atrophy	25792	CIZ1	ORPHA:420492
HP:0012444	Brain atrophy	400916	CHCHD10	OMIM:615911
HP:0012444	Brain atrophy	673	BRAF	OMIM:115150
HP:0012444	Brain atrophy	673	BRAF	ORPHA:1340
HP:0012444	Brain atrophy	54820	NDE1	ORPHA:2177
HP:0012444	Brain atrophy	7360	UGP2	OMIM:618744
HP:0012444	Brain atrophy	5457	POU4F1	ORPHA:314647
HP:0012444	Brain atrophy	23261	CAMTA1	ORPHA:314647
HP:0012444	Brain atrophy	23261	CAMTA1	OMIM:614756
HP:0012444	Brain atrophy	8496	PPFIBP1	OMIM:620024
HP:0012444	Brain atrophy	6687	SPG7	ORPHA:99013
HP:0012444	Brain atrophy	6687	SPG7	OMIM:607259
HP:0012444	Brain atrophy	54209	TREM2	OMIM:618193
HP:0012444	Brain atrophy	54209	TREM2	ORPHA:1020
HP:0012444	Brain atrophy	54209	TREM2	ORPHA:2770
HP:0012444	Brain atrophy	4125	MAN2B1	ORPHA:309282
HP:0012444	Brain atrophy	4125	MAN2B1	ORPHA:309288
HP:0012444	Brain atrophy	4125	MAN2B1	OMIM:248500
HP:0012444	Brain atrophy	51112	TRAPPC12	ORPHA:500144
HP:0012444	Brain atrophy	51112	TRAPPC12	OMIM:617669
HP:0012444	Brain atrophy	54968	TMEM70	ORPHA:1194
HP:0012444	Brain atrophy	3020	H3-3A	OMIM:619720
HP:0012444	Brain atrophy	8722	CTSF	OMIM:615362
HP:0012444	Brain atrophy	387787	LIPT2	OMIM:617668
HP:0012444	Brain atrophy	84520	GON7	OMIM:619603
HP:0012444	Brain atrophy	23431	AP4E1	OMIM:613744
HP:0012444	Brain atrophy	23431	AP4E1	ORPHA:280763
HP:0012444	Brain atrophy	57582	KCNT1	OMIM:614959
HP:0012444	Brain atrophy	10978	CLP1	OMIM:615803
HP:0012444	Brain atrophy	79158	GNPTAB	OMIM:252500
HP:0012444	Brain atrophy	271	AMPD2	OMIM:615809
HP:0012444	Brain atrophy	5189	PEX1	OMIM:214100
HP:0012444	Brain atrophy	55650	PIGV	OMIM:239300
HP:0012444	Brain atrophy	2192	FBLN1	ORPHA:404451
HP:0012444	Brain atrophy	348	APOE	OMIM:607822
HP:0012444	Brain atrophy	5663	PSEN1	OMIM:607822
HP:0012444	Brain atrophy	5663	PSEN1	ORPHA:1020
HP:0012444	Brain atrophy	51360	MBTPS2	ORPHA:2273
HP:0012444	Brain atrophy	5832	ALDH18A1	OMIM:616586
HP:0012444	Brain atrophy	5832	ALDH18A1	ORPHA:447760
HP:0012444	Brain atrophy	9326	ZNHIT3	ORPHA:2836
HP:0012444	Brain atrophy	2018	EMX2	OMIM:269160
HP:0012444	Brain atrophy	6496	SIX3	OMIM:269160
HP:0012444	Brain atrophy	6469	SHH	OMIM:269160
HP:0012444	Brain atrophy	5191	PEX7	OMIM:215100
HP:0012444	Brain atrophy	2332	FMR1	ORPHA:93256
HP:0012444	Brain atrophy	2332	FMR1	ORPHA:908
HP:0012444	Brain atrophy	23400	ATP13A2	ORPHA:513436
HP:0012444	Brain atrophy	23400	ATP13A2	ORPHA:306674
HP:0012444	Brain atrophy	23400	ATP13A2	OMIM:617225
HP:0012444	Brain atrophy	652	BMP4	OMIM:607932
HP:0012444	Brain atrophy	57231	SNX14	OMIM:616354
HP:0012444	Brain atrophy	132158	GLYCTK	OMIM:220120
HP:0012444	Brain atrophy	10347	ABCA7	OMIM:608907
HP:0012444	Brain atrophy	10347	ABCA7	ORPHA:1020
HP:0012444	Brain atrophy	246243	RNASEH1	OMIM:616479
HP:0012444	Brain atrophy	51761	ATP8A2	OMIM:615268
HP:0012444	Brain atrophy	4582	MUC1	OMIM:174000
HP:0012444	Brain atrophy	57338	JPH3	ORPHA:98934
HP:0012444	Brain atrophy	57338	JPH3	OMIM:606438
HP:0012444	Brain atrophy	23265	EXOC7	OMIM:619072
HP:0012444	Brain atrophy	699	BUB1	OMIM:620183
HP:0012444	Brain atrophy	1798	DPAGT1	ORPHA:86309
HP:0012444	Brain atrophy	55699	IARS2	OMIM:616007
HP:0012444	Brain atrophy	6804	STX1A	ORPHA:904
HP:0012444	Brain atrophy	7461	CLIP2	ORPHA:904
HP:0012444	Brain atrophy	84277	DNAJC30	ORPHA:904
HP:0012444	Brain atrophy	8468	FKBP6	ORPHA:904
HP:0012444	Brain atrophy	5982	RFC2	ORPHA:904
HP:0012444	Brain atrophy	2969	GTF2I	ORPHA:904
HP:0012444	Brain atrophy	3984	LIMK1	ORPHA:904
HP:0012444	Brain atrophy	9569	GTF2IRD1	ORPHA:904
HP:0012444	Brain atrophy	155382	VPS37D	ORPHA:904
HP:0012444	Brain atrophy	155368	METTL27	ORPHA:904
HP:0012444	Brain atrophy	114049	BUD23	ORPHA:904
HP:0012444	Brain atrophy	7458	EIF4H	ORPHA:904
HP:0012444	Brain atrophy	84163	GTF2IRD2	ORPHA:904
HP:0012444	Brain atrophy	9275	BCL7B	ORPHA:904
HP:0012444	Brain atrophy	26608	TBL2	ORPHA:904
HP:0012444	Brain atrophy	653361	NCF1	ORPHA:904
HP:0012444	Brain atrophy	135886	TMEM270	ORPHA:904
HP:0012444	Brain atrophy	51085	MLXIPL	ORPHA:904
HP:0012444	Brain atrophy	9031	BAZ1B	ORPHA:904
HP:0012444	Brain atrophy	2006	ELN	ORPHA:904
HP:0012444	Brain atrophy	11340	EXOSC8	ORPHA:2254
HP:0012444	Brain atrophy	11340	EXOSC8	OMIM:616081
HP:0012444	Brain atrophy	23287	AGTPBP1	ORPHA:2254
HP:0012444	Brain atrophy	7443	VRK1	ORPHA:2254
HP:0012444	Brain atrophy	7443	VRK1	OMIM:607596
HP:0012444	Brain atrophy	91137	SLC25A46	ORPHA:2254
HP:0012444	Brain atrophy	4191	MDH2	OMIM:617339
HP:0012444	Brain atrophy	5590	PRKCZ	ORPHA:1606
HP:0012444	Brain atrophy	2563	GABRD	ORPHA:1606
HP:0012444	Brain atrophy	23013	SPEN	ORPHA:1606
HP:0012444	Brain atrophy	8510	MMP23B	ORPHA:1606
HP:0012444	Brain atrophy	7798	LUZP1	ORPHA:1606
HP:0012444	Brain atrophy	6497	SKI	ORPHA:1606
HP:0012444	Brain atrophy	10630	PDPN	ORPHA:1606
HP:0012444	Brain atrophy	3339	HSPG2	ORPHA:1606
HP:0012444	Brain atrophy	10277	UBE4B	ORPHA:1606
HP:0012444	Brain atrophy	8514	KCNAB2	ORPHA:1606
HP:0012444	Brain atrophy	473	RERE	ORPHA:1606
HP:0012444	Brain atrophy	63976	PRDM16	ORPHA:1606
HP:0012444	Brain atrophy	54897	CASZ1	ORPHA:1606
HP:0012444	Brain atrophy	493856	CISD2	ORPHA:3463
HP:0012444	Brain atrophy	6638	SNRPN	OMIM:105830
HP:0012444	Brain atrophy	6638	SNRPN	ORPHA:177907
HP:0012444	Brain atrophy	7337	UBE3A	OMIM:105830
HP:0012444	Brain atrophy	1859	DYRK1A	ORPHA:464311
HP:0012444	Brain atrophy	1859	DYRK1A	ORPHA:268261
HP:0012444	Brain atrophy	1859	DYRK1A	OMIM:614104
HP:0012444	Brain atrophy	2896	GRN	OMIM:607485
HP:0012444	Brain atrophy	11128	POLR3A	ORPHA:447896
HP:0012444	Brain atrophy	11128	POLR3A	OMIM:607694
HP:0012444	Brain atrophy	8517	IKBKG	ORPHA:464
HP:0012444	Brain atrophy	4644	MYO5A	ORPHA:33445
HP:0012444	Brain atrophy	51633	OTUD6B	ORPHA:505237
HP:0012444	Brain atrophy	5621	PRNP	ORPHA:157941
HP:0012444	Brain atrophy	56098	PCDHGC4	OMIM:619880
HP:0012444	Brain atrophy	54499	TMCO1	ORPHA:1394
HP:0012444	Brain atrophy	9562	MINPP1	OMIM:619527
HP:0012444	Brain atrophy	6311	ATXN2	ORPHA:98756
HP:0012444	Brain atrophy	8573	CASK	ORPHA:163937
HP:0012444	Brain atrophy	54941	RNF125	OMIM:616260
HP:0012444	Brain atrophy	25782	RAB3GAP2	ORPHA:1387
HP:0012444	Brain atrophy	25782	RAB3GAP2	ORPHA:401830
HP:0012444	Brain atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0012444	Brain atrophy	283989	TSEN54	OMIM:277470
HP:0012444	Brain atrophy	5664	PSEN2	ORPHA:1020
HP:0012444	Brain atrophy	10452	TOMM40	ORPHA:1020
HP:0012444	Brain atrophy	351	APP	ORPHA:1020
HP:0012444	Brain atrophy	6653	SORL1	ORPHA:1020
HP:0012444	Brain atrophy	404672	GTF2H5	ORPHA:33364
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:33364
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:910
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:1466
HP:0012444	Brain atrophy	7737	RNF113A	ORPHA:33364
HP:0012444	Brain atrophy	136647	MPLKIP	ORPHA:33364
HP:0012444	Brain atrophy	136647	MPLKIP	OMIM:234050
HP:0012444	Brain atrophy	6897	TARS1	ORPHA:33364
HP:0012444	Brain atrophy	2071	ERCC3	ORPHA:33364
HP:0012444	Brain atrophy	2071	ERCC3	ORPHA:910
HP:0012444	Brain atrophy	2961	GTF2E2	ORPHA:33364
HP:0012444	Brain atrophy	51750	RTEL1	ORPHA:3322
HP:0012444	Brain atrophy	65057	ACD	ORPHA:3322
HP:0012444	Brain atrophy	5073	PARN	ORPHA:3322
HP:0012444	Brain atrophy	7015	TERT	ORPHA:3322
HP:0012444	Brain atrophy	26277	TINF2	ORPHA:3322
HP:0012444	Brain atrophy	1736	DKC1	ORPHA:3322
HP:0012444	Brain atrophy	79053	ALG8	ORPHA:79325
HP:0012444	Brain atrophy	2776	GNAQ	ORPHA:3205
HP:0012444	Brain atrophy	2776	GNAQ	OMIM:185300
HP:0012444	Brain atrophy	8295	TRRAP	OMIM:618454
HP:0012444	Brain atrophy	2583	B4GALNT1	OMIM:609195
HP:0012444	Brain atrophy	2583	B4GALNT1	ORPHA:101006
HP:0012444	Brain atrophy	11232	POLG2	OMIM:619425
HP:0012444	Brain atrophy	57724	EPG5	ORPHA:1493
HP:0012444	Brain atrophy	4204	MECP2	OMIM:312750
HP:0012444	Brain atrophy	81603	TRIM8	OMIM:619428
HP:0012444	Brain atrophy	5277	PIGA	OMIM:301072
HP:0012444	Brain atrophy	5277	PIGA	OMIM:300868
HP:0012444	Brain atrophy	7507	XPA	ORPHA:910
HP:0012444	Brain atrophy	7508	XPC	ORPHA:910
HP:0012444	Brain atrophy	1643	DDB2	ORPHA:910
HP:0012444	Brain atrophy	2072	ERCC4	ORPHA:910
HP:0012444	Brain atrophy	2073	ERCC5	ORPHA:910
HP:0012444	Brain atrophy	2073	ERCC5	ORPHA:1466
HP:0012444	Brain atrophy	55703	POLR3B	OMIM:607694
HP:0012444	Brain atrophy	1203	CLN5	ORPHA:228360
HP:0012444	Brain atrophy	1203	CLN5	OMIM:256731
HP:0012444	Brain atrophy	4558	MT-TF	ORPHA:550
HP:0012444	Brain atrophy	4572	MT-TQ	ORPHA:550
HP:0012444	Brain atrophy	4512	MT-CO1	ORPHA:550
HP:0012444	Brain atrophy	4513	MT-CO2	ORPHA:550
HP:0012444	Brain atrophy	4514	MT-CO3	ORPHA:550
HP:0012444	Brain atrophy	4578	MT-TW	ORPHA:550
HP:0012444	Brain atrophy	4540	MT-ND5	ORPHA:550
HP:0012444	Brain atrophy	4541	MT-ND6	ORPHA:550
HP:0012444	Brain atrophy	4535	MT-ND1	ORPHA:550
HP:0012444	Brain atrophy	4538	MT-ND4	ORPHA:550
HP:0012444	Brain atrophy	4567	MT-TL1	ORPHA:550
HP:0012444	Brain atrophy	4574	MT-TS1	ORPHA:550
HP:0012444	Brain atrophy	4575	MT-TS2	ORPHA:550
HP:0012444	Brain atrophy	4564	MT-TH	ORPHA:550
HP:0012444	Brain atrophy	27238	GPKOW	ORPHA:2570
HP:0012444	Brain atrophy	8925	HERC1	OMIM:617011
HP:0012444	Brain atrophy	8925	HERC1	ORPHA:457359
HP:0012444	Brain atrophy	54832	VPS13C	OMIM:616840
HP:0012444	Brain atrophy	55746	NUP133	OMIM:618349
HP:0012444	Brain atrophy	79813	EHMT1	ORPHA:96147
HP:0012444	Brain atrophy	57679	ALS2	OMIM:606353
HP:0012444	Brain atrophy	27249	MMADHC	OMIM:277410
HP:0012444	Brain atrophy	55630	SLC39A4	ORPHA:37
HP:0012444	Brain atrophy	116461	TSEN15	OMIM:617026
HP:0012444	Brain atrophy	8085	KMT2D	ORPHA:2322
HP:0012444	Brain atrophy	7403	KDM6A	ORPHA:2322
HP:0012444	Brain atrophy	998	CDC42	OMIM:616737
HP:0012444	Brain atrophy	50	ACO2	OMIM:614559
HP:0012444	Brain atrophy	10166	SLC25A15	ORPHA:415
HP:0012444	Brain atrophy	10166	SLC25A15	OMIM:238970
HP:0012444	Brain atrophy	6904	TBCD	ORPHA:496641
HP:0012444	Brain atrophy	29925	GMPPB	ORPHA:370968
HP:0012444	Brain atrophy	79147	FKRP	ORPHA:370968
HP:0012444	Brain atrophy	9215	LARGE1	ORPHA:370968
HP:0012444	Brain atrophy	10585	POMT1	ORPHA:370968
HP:0012444	Brain atrophy	56915	EXOSC5	OMIM:619576
HP:0012444	Brain atrophy	23221	RHOBTB2	OMIM:618004
HP:0012444	Brain atrophy	2067	ERCC1	ORPHA:1466
HP:0012444	Brain atrophy	54834	GDAP2	OMIM:618369
HP:0012444	Brain atrophy	23317	DNAJC13	ORPHA:411602
HP:0012444	Brain atrophy	1981	EIF4G1	ORPHA:411602
HP:0012444	Brain atrophy	55737	VPS35	ORPHA:411602
HP:0012444	Brain atrophy	120892	LRRK2	ORPHA:411602
HP:0012444	Brain atrophy	26058	GIGYF2	ORPHA:411602
HP:0012444	Brain atrophy	6622	SNCA	ORPHA:411602
HP:0012444	Brain atrophy	5604	MAP2K1	ORPHA:1340
HP:0012444	Brain atrophy	5605	MAP2K2	ORPHA:1340
HP:0012444	Brain atrophy	51608	GET4	OMIM:620200
HP:0012444	Brain atrophy	100506658	OCLN	ORPHA:1229
HP:0012444	Brain atrophy	9758	FRMPD4	OMIM:300983
HP:0012444	Brain atrophy	83696	TRAPPC9	ORPHA:352530
HP:0012444	Brain atrophy	128637	TBC1D20	OMIM:615663
HP:0012444	Brain atrophy	128637	TBC1D20	ORPHA:2510
HP:0012444	Brain atrophy	23476	BRD4	ORPHA:199
HP:0012444	Brain atrophy	9126	SMC3	ORPHA:199
HP:0012444	Brain atrophy	8243	SMC1A	ORPHA:199
HP:0012444	Brain atrophy	25836	NIPBL	ORPHA:199
HP:0012444	Brain atrophy	55869	HDAC8	ORPHA:199
HP:0012444	Brain atrophy	5885	RAD21	ORPHA:199
HP:0012444	Brain atrophy	9791	PTDSS1	OMIM:151050
HP:0012444	Brain atrophy	7399	USH2A	ORPHA:231178
HP:0012444	Brain atrophy	79955	PDZD7	ORPHA:231178
HP:0012444	Brain atrophy	4647	MYO7A	ORPHA:231178
HP:0012444	Brain atrophy	4647	MYO7A	ORPHA:231169
HP:0012444	Brain atrophy	25861	WHRN	ORPHA:231178
HP:0012444	Brain atrophy	84059	ADGRV1	ORPHA:231178
HP:0012444	Brain atrophy	6197	RPS6KA3	ORPHA:192
HP:0012444	Brain atrophy	10815	CPLX1	OMIM:617976
HP:0012444	Brain atrophy	22931	RAB18	OMIM:614222
HP:0012444	Brain atrophy	22931	RAB18	ORPHA:2510
HP:0012444	Brain atrophy	8905	AP1S2	ORPHA:1568
HP:0012444	Brain atrophy	10283	CWC27	ORPHA:166035
HP:0012444	Brain atrophy	60558	GUF1	OMIM:617065
HP:0012444	Brain atrophy	122553	TRAPPC6B	OMIM:617862
HP:0012444	Brain atrophy	57688	ZSWIM6	OMIM:617865
HP:0012444	Brain atrophy	2893	GRIA4	OMIM:617864
HP:0012444	Brain atrophy	79152	FA2H	ORPHA:171629
HP:0012444	Brain atrophy	55164	SHQ1	OMIM:619922
HP:0012444	Brain atrophy	6785	ELOVL4	OMIM:133190
HP:0012444	Brain atrophy	3090	HIC1	ORPHA:531
HP:0012444	Brain atrophy	5048	PAFAH1B1	ORPHA:531
HP:0012444	Brain atrophy	7531	YWHAE	ORPHA:531
HP:0012444	Brain atrophy	10717	AP4B1	ORPHA:280763
HP:0012444	Brain atrophy	9179	AP4M1	ORPHA:280763
HP:0012444	Brain atrophy	11154	AP4S1	ORPHA:280763
HP:0012444	Brain atrophy	25978	CHMP2B	OMIM:600795
HP:0012444	Brain atrophy	340533	NEXMIF	ORPHA:85277
HP:0012444	Brain atrophy	10479	SLC9A6	ORPHA:85278
HP:0012444	Brain atrophy	777	CACNA1E	OMIM:618285
HP:0012444	Brain atrophy	27229	TUBGCP4	ORPHA:2518
HP:0012444	Brain atrophy	55005	RMND1	OMIM:614922
HP:0012444	Brain atrophy	4693	NDP	ORPHA:649
HP:0012444	Brain atrophy	4508	MT-ATP6	ORPHA:644
HP:0012444	Brain atrophy	71	ACTG1	ORPHA:2995
HP:0012444	Brain atrophy	60	ACTB	ORPHA:2995
HP:0012444	Brain atrophy	2801	GOLGA2	OMIM:620240
HP:0012444	Brain atrophy	23299	BICD2	OMIM:618291
HP:0012444	Brain atrophy	64072	CDH23	ORPHA:231169
HP:0012444	Brain atrophy	10083	USH1C	ORPHA:231169
HP:0012444	Brain atrophy	124590	USH1G	ORPHA:231169
HP:0012444	Brain atrophy	83715	ESPN	ORPHA:231169
HP:0012444	Brain atrophy	10518	CIB2	ORPHA:231169
HP:0012444	Brain atrophy	65217	PCDH15	ORPHA:231169
HP:0012444	Brain atrophy	23404	EXOSC2	OMIM:617763
HP:0012444	Brain atrophy	221692	PHACTR1	OMIM:618298
HP:0012444	Brain atrophy	4858	NOVA2	OMIM:618859
HP:0012444	Brain atrophy	29110	TBK1	OMIM:616439
HP:0012444	Brain atrophy	9373	PLAA	OMIM:617527
HP:0012444	Brain atrophy	170302	ARX	ORPHA:2508
HP:0012444	Brain atrophy	8878	SQSTM1	OMIM:616437
HP:0012444	Brain atrophy	5052	PRDX1	OMIM:277400
HP:0012444	Brain atrophy	267010	RNU12	ORPHA:512260
HP:0012444	Brain atrophy	124997	WDR81	OMIM:610185
HP:0012444	Brain atrophy	9255	AIMP1	OMIM:260600
HP:0012444	Brain atrophy	85476	GFM1	OMIM:609060
HP:0012444	Brain atrophy	2521	FUS	ORPHA:275872
HP:0012444	Brain atrophy	23435	TARDBP	ORPHA:275872
HP:0012444	Brain atrophy	6335	SCN9A	ORPHA:33069
HP:0012444	Brain atrophy	6326	SCN2A	ORPHA:33069
HP:0012444	Brain atrophy	6326	SCN2A	OMIM:613721
HP:0012444	Brain atrophy	2554	GABRA1	ORPHA:33069
HP:0012444	Brain atrophy	6324	SCN1B	ORPHA:33069
HP:0012444	Brain atrophy	57526	PCDH19	ORPHA:33069
HP:0012444	Brain atrophy	83475	DOHH	OMIM:620066
HP:0012444	Brain atrophy	80025	PANK2	OMIM:234200
HP:0012444	Brain atrophy	25915	NDUFAF3	ORPHA:70474
HP:0012444	Brain atrophy	4720	NDUFS2	ORPHA:70474
HP:0012444	Brain atrophy	6834	SURF1	ORPHA:70474
HP:0012444	Brain atrophy	55593	OTUD5	OMIM:301056
HP:0012444	Brain atrophy	128240	NAXE	OMIM:617186
HP:0012444	Brain atrophy	25828	TXN2	ORPHA:478029
HP:0012444	Brain atrophy	25828	TXN2	OMIM:616811
HP:0012444	Brain atrophy	790	CAD	OMIM:616457
HP:0012444	Brain atrophy	2782	GNB1	OMIM:616973
HP:0012444	Brain atrophy	55163	PNPO	ORPHA:79096
HP:0012444	Brain atrophy	5660	PSAP	OMIM:611722
HP:0012444	Brain atrophy	79944	L2HGDH	OMIM:236792
HP:0012444	Brain atrophy	8869	ST3GAL5	OMIM:609056
HP:0012444	Brain atrophy	1436	CSF1R	OMIM:221820
HP:0012444	Brain atrophy	5354	PLP1	OMIM:312080
HP:0012444	Brain atrophy	6651	SON	ORPHA:500150
HP:0012444	Brain atrophy	1540	CYLD	OMIM:619132
HP:0012444	Brain atrophy	215	ABCD1	ORPHA:139396
HP:0012444	Brain atrophy	1315	COPB1	OMIM:619255
HP:0012444	Brain atrophy	1717	DHCR7	OMIM:270400
HP:0012444	Brain atrophy	6304	SATB1	OMIM:619229
HP:0012444	Brain atrophy	27010	TPK1	OMIM:614458
HP:0012444	Brain atrophy	10695	CNPY3	OMIM:617929
HP:0012444	Brain atrophy	1678	TIMM8A	ORPHA:52368
HP:0012444	Brain atrophy	2512	FTL	ORPHA:157846
HP:0012444	Brain atrophy	4750	NEK1	OMIM:617892
HP:0012444	Brain atrophy	93986	FOXP2	ORPHA:209908
HP:0012444	Brain atrophy	79133	NDUFAF5	OMIM:618238
HP:0012444	Brain atrophy	27235	COQ2	OMIM:607426
HP:0012444	Brain atrophy	64601	VPS16	OMIM:619291
HP:0012444	Brain atrophy	7384	UQCRC1	OMIM:619279
HP:0012444	Brain atrophy	22796	COG2	OMIM:617395
HP:0012444	Brain atrophy	22796	COG2	ORPHA:435934
HP:0012444	Brain atrophy	686	BTD	OMIM:253260
HP:0012444	Brain atrophy	2581	GALC	ORPHA:206436
HP:0012444	Brain atrophy	2581	GALC	OMIM:245200
HP:0012444	Brain atrophy	23203	PMPCA	ORPHA:1170
HP:0012444	Brain atrophy	2232	FDXR	ORPHA:543470
HP:0012444	Brain atrophy	2903	GRIN2A	ORPHA:289266
HP:0012444	Brain atrophy	5575	PRKAR1B	ORPHA:412066
HP:0012444	Brain atrophy	51473	DCDC2	ORPHA:84081
HP:0012444	Brain atrophy	91147	TMEM67	ORPHA:84081
HP:0012444	Brain atrophy	9440	MED17	OMIM:613668
HP:0012444	Brain atrophy	6792	CDKL5	ORPHA:1934
HP:0012444	Brain atrophy	3736	KCNA1	ORPHA:1934
HP:0012444	Brain atrophy	9091	PIGQ	ORPHA:1934
HP:0012444	Brain atrophy	150094	SIK1	ORPHA:1934
HP:0012444	Brain atrophy	23312	DMXL2	ORPHA:1934
HP:0012444	Brain atrophy	11284	PNKP	ORPHA:1934
HP:0012444	Brain atrophy	51227	PIGP	ORPHA:1934
HP:0012444	Brain atrophy	6908	TBP	OMIM:607136
HP:0012444	Brain atrophy	7074	TIAM1	OMIM:619908
HP:0012444	Brain atrophy	79989	IFT56	OMIM:619534
HP:0012444	Brain atrophy	4208	MEF2C	ORPHA:228384
HP:0012444	Brain atrophy	2892	GRIA3	OMIM:300699
HP:0012444	Brain atrophy	80208	SPG11	ORPHA:2822
HP:0012444	Brain atrophy	23230	VPS13A	ORPHA:2388
HP:0012444	Brain atrophy	4983	OPHN1	ORPHA:137831
HP:0012444	Brain atrophy	55681	SCYL2	OMIM:618766
HP:0012444	Brain atrophy	3097	HIVEP2	OMIM:616977
HP:0012444	Brain atrophy	7415	VCP	OMIM:167320
HP:0012444	Brain atrophy	1528	CYB5A	ORPHA:621
HP:0012444	Brain atrophy	1727	CYB5R3	ORPHA:621
HP:0012444	Brain atrophy	29954	POMT2	ORPHA:206559
HP:0012444	Brain atrophy	112755	STX1B	ORPHA:36387
HP:0012444	Brain atrophy	5147	PDE6D	OMIM:615665
HP:0012444	Brain atrophy	104	ADARB1	OMIM:618862
HP:0012444	Brain atrophy	2639	GCDH	ORPHA:25
HP:0012444	Brain atrophy	4976	OPA1	ORPHA:98673
HP:0012444	Brain atrophy	4099	MAG	OMIM:616680
HP:0012444	Brain atrophy	51728	POLR3K	OMIM:619310
HP:0012444	Brain atrophy	3295	HSD17B4	OMIM:261515
HP:0012444	Brain atrophy	4001	LMNB1	OMIM:169500
HP:0012444	Brain atrophy	27072	VPS41	OMIM:619389
HP:0012444	Brain atrophy	23636	NUP62	ORPHA:225154
HP:0012444	Brain atrophy	10273	STUB1	ORPHA:412057
HP:0012444	Brain atrophy	4692	NDN	ORPHA:177904
HP:0012444	Brain atrophy	4692	NDN	ORPHA:177901
HP:0012444	Brain atrophy	4692	NDN	ORPHA:98754
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:177904
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:177901
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:98754
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:177904
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:177901
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:98754
HP:0012444	Brain atrophy	26278	SACS	ORPHA:98
HP:0012444	Brain atrophy	10430	TMEM147	OMIM:620075
HP:0012444	Brain atrophy	85440	DOCK7	ORPHA:411986
HP:0012444	Brain atrophy	23729	SHPK	ORPHA:440713
HP:0012444	Brain atrophy	54664	TMEM106B	ORPHA:100069
HP:0012444	Brain atrophy	4524	MTHFR	ORPHA:395
HP:0012444	Brain atrophy	51399	TRAPPC4	OMIM:618741
HP:0012444	Brain atrophy	4723	NDUFV1	OMIM:618225
HP:0012444	Brain atrophy	9853	RUSC2	OMIM:617773
HP:0012444	Brain atrophy	54517	PUS7	OMIM:618342
HP:0012444	Brain atrophy	4719	NDUFS1	OMIM:618226
HP:0012444	Brain atrophy	4729	NDUFV2	OMIM:618229
HP:0012444	Brain atrophy	6341	SCO1	OMIM:619048
HP:0012444	Brain atrophy	126328	NDUFA11	OMIM:618236
HP:0012444	Brain atrophy	113179	ADAT3	ORPHA:363528
HP:0012444	Brain atrophy	113179	ADAT3	OMIM:615286
HP:0012444	Brain atrophy	283489	CHAMP1	OMIM:616579
HP:0012444	Brain atrophy	65082	VPS33A	OMIM:617303
HP:0012444	Brain atrophy	65082	VPS33A	ORPHA:505248
HP:0012444	Brain atrophy	10730	YME1L1	OMIM:617302
HP:0012444	Brain atrophy	9640	ZNF592	ORPHA:83472
HP:0012444	Brain atrophy	79068	FTO	OMIM:612938
HP:0012444	Brain atrophy	427	ASAH1	ORPHA:333
HP:0012444	Brain atrophy	2895	GRID2	ORPHA:363432
HP:0012444	Brain atrophy	1351	COX8A	OMIM:619059
HP:0012444	Brain atrophy	3899	AFF3	OMIM:619297
HP:0012444	Brain atrophy	27315	PGAP2	OMIM:614207
HP:0012444	Brain atrophy	29967	LRP12	OMIM:164310
HP:0012444	Brain atrophy	501	ALDH7A1	ORPHA:3006
HP:0012444	Brain atrophy	11212	PLPBP	ORPHA:3006
HP:0012444	Brain atrophy	11212	PLPBP	OMIM:617290
HP:0012444	Brain atrophy	1130	LYST	ORPHA:167
HP:0012444	Brain atrophy	283987	HID1	OMIM:619983
HP:0012444	Brain atrophy	56479	KCNQ5	OMIM:617601
HP:0012444	Brain atrophy	2752	GLUL	OMIM:610015
HP:0012444	Brain atrophy	84947	SERAC1	OMIM:614739
HP:0012444	Brain atrophy	26227	PHGDH	OMIM:256520
HP:0012444	Brain atrophy	443	ASPA	OMIM:271900
HP:0012444	Brain atrophy	51241	COX16	OMIM:619355
HP:0012444	Brain atrophy	149371	EXOC8	OMIM:619076
HP:0012444	Brain atrophy	10846	PDE10A	ORPHA:494526
HP:0012444	Brain atrophy	51002	TPRKB	OMIM:617731
HP:0012444	Brain atrophy	8239	USP9X	ORPHA:480880
HP:0012444	Brain atrophy	55823	VPS11	OMIM:619637
HP:0012444	Brain atrophy	378884	NHLRC1	ORPHA:501
HP:0012444	Brain atrophy	7957	EPM2A	ORPHA:501
HP:0012444	Brain atrophy	79759	ZNF668	OMIM:620194
HP:0012444	Brain atrophy	9829	DNAJC6	ORPHA:391411
HP:0012444	Brain atrophy	5420	PODXL	ORPHA:391411
HP:0012444	Brain atrophy	51611	DPH5	OMIM:620070
HP:0012444	Brain atrophy	4247	MGAT2	ORPHA:79329
HP:0012444	Brain atrophy	6305	SBF1	OMIM:615284
HP:0012444	Brain atrophy	374354	NHLRC2	OMIM:618278
HP:0012444	Brain atrophy	57570	TRMT5	OMIM:616539
HP:0012444	Brain atrophy	5591	PRKDC	OMIM:615966
HP:0012444	Brain atrophy	9409	PEX16	OMIM:614877
HP:0012444	Brain atrophy	539	ATP5PO	OMIM:620359
HP:0012444	Brain atrophy	57462	MYORG	OMIM:618317
HP:0012444	Brain atrophy	8911	CACNA1I	OMIM:620114
HP:0012444	Brain atrophy	84628	NTNG2	OMIM:618718
HP:0012444	Brain atrophy	3178	HNRNPA1	ORPHA:52430
HP:0012444	Brain atrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0012444	Brain atrophy	4854	NOTCH3	ORPHA:136
HP:0012444	Brain atrophy	4677	NARS1	OMIM:619092
HP:0012444	Brain atrophy	2261	FGFR3	ORPHA:85165
HP:0012444	Brain atrophy	50628	GEMIN4	OMIM:617913
HP:0012444	Brain atrophy	5654	HTRA1	OMIM:600142
HP:0012444	Brain atrophy	6567	SLC16A2	ORPHA:59
HP:0012444	Brain atrophy	55181	SMG8	OMIM:619268
HP:0012444	Brain atrophy	1892	ECHS1	OMIM:616277
HP:0012444	Brain atrophy	84153	RNASEH2C	ORPHA:51
HP:0012444	Brain atrophy	25939	SAMHD1	ORPHA:51
HP:0012444	Brain atrophy	103	ADAR	ORPHA:51
HP:0012444	Brain atrophy	5813	PURA	ORPHA:314655
HP:0012444	Brain atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0012444	Brain atrophy	57094	CPA6	OMIM:614418
HP:0012444	Brain atrophy	29998	BICRA	OMIM:619325
HP:0012447	Abnormal myelination	199857	ALG14	OMIM:619031
HP:0012447	Abnormal myelination	199857	ALG14	OMIM:619036
HP:0012447	Abnormal myelination	9131	AIFM1	OMIM:300232
HP:0012447	Abnormal myelination	26235	FBXL4	OMIM:615471
HP:0012447	Abnormal myelination	8367	H4C5	OMIM:619950
HP:0012447	Abnormal myelination	104	ADARB1	OMIM:618862
HP:0012447	Abnormal myelination	375	ARF1	OMIM:618185
HP:0012447	Abnormal myelination	2775	GNAO1	OMIM:615473
HP:0012447	Abnormal myelination	2775	GNAO1	OMIM:617493
HP:0012447	Abnormal myelination	6873	TAF2	OMIM:615599
HP:0012447	Abnormal myelination	10059	DNM1L	OMIM:614388
HP:0012447	Abnormal myelination	55823	VPS11	ORPHA:466934
HP:0012447	Abnormal myelination	23417	MLYCD	OMIM:248360
HP:0012447	Abnormal myelination	4897	NRCAM	OMIM:619833
HP:0012447	Abnormal myelination	347734	SLC35B2	OMIM:620269
HP:0012447	Abnormal myelination	81570	CLPB	OMIM:619835
HP:0012447	Abnormal myelination	51343	FZR1	OMIM:620145
HP:0012447	Abnormal myelination	23126	POGZ	ORPHA:468678
HP:0012447	Abnormal myelination	23126	POGZ	OMIM:616364
HP:0012447	Abnormal myelination	51506	UFC1	OMIM:618076
HP:0012447	Abnormal myelination	283489	CHAMP1	OMIM:616579
HP:0012447	Abnormal myelination	387787	LIPT2	OMIM:617668
HP:0012447	Abnormal myelination	57465	TBC1D24	ORPHA:352596
HP:0012447	Abnormal myelination	4010	LMX1B	ORPHA:495818
HP:0012447	Abnormal myelination	6812	STXBP1	ORPHA:495818
HP:0012447	Abnormal myelination	6812	STXBP1	OMIM:612164
HP:0012447	Abnormal myelination	478	ATP1A3	OMIM:619606
HP:0012447	Abnormal myelination	166378	AFG2A	OMIM:616577
HP:0012447	Abnormal myelination	65082	VPS33A	OMIM:617303
HP:0012447	Abnormal myelination	10730	YME1L1	OMIM:617302
HP:0012447	Abnormal myelination	375387	NRROS	OMIM:618875
HP:0012447	Abnormal myelination	80055	PGAP1	OMIM:615802
HP:0012447	Abnormal myelination	5610	EIF2AK2	OMIM:618877
HP:0012447	Abnormal myelination	3781	KCNN2	OMIM:619725
HP:0012447	Abnormal myelination	9915	ARNT2	OMIM:615926
HP:0012447	Abnormal myelination	57582	KCNT1	OMIM:614959
HP:0012447	Abnormal myelination	79693	YRDC	OMIM:619609
HP:0012447	Abnormal myelination	57492	ARID1B	OMIM:135900
HP:0012447	Abnormal myelination	55870	ASH1L	OMIM:617796
HP:0012447	Abnormal myelination	6884	TAF13	OMIM:617432
HP:0012447	Abnormal myelination	7528	YY1	OMIM:617557
HP:0012447	Abnormal myelination	5191	PEX7	OMIM:215100
HP:0012447	Abnormal myelination	501	ALDH7A1	ORPHA:3006
HP:0012447	Abnormal myelination	11212	PLPBP	ORPHA:3006
HP:0012447	Abnormal myelination	652	BMP4	OMIM:607932
HP:0012447	Abnormal myelination	1656	DDX6	OMIM:618653
HP:0012447	Abnormal myelination	55703	POLR3B	OMIM:619742
HP:0012447	Abnormal myelination	497661	C18orf32	OMIM:619985
HP:0012447	Abnormal myelination	23327	NEDD4L	OMIM:617201
HP:0012447	Abnormal myelination	132158	GLYCTK	OMIM:220120
HP:0012447	Abnormal myelination	833	CARS1	OMIM:618891
HP:0012447	Abnormal myelination	57178	ZMIZ1	OMIM:618659
HP:0012447	Abnormal myelination	2783	GNB2	OMIM:619503
HP:0012447	Abnormal myelination	25942	SIN3A	OMIM:613406
HP:0012447	Abnormal myelination	7915	ALDH5A1	OMIM:271980
HP:0012447	Abnormal myelination	27245	AHDC1	OMIM:615829
HP:0012447	Abnormal myelination	1499	CTNNB1	ORPHA:404473
HP:0012447	Abnormal myelination	9653	HS2ST1	OMIM:619194
HP:0012447	Abnormal myelination	5518	PPP2R1A	OMIM:616362
HP:0012447	Abnormal myelination	1186	CLCN7	OMIM:618541
HP:0012447	Abnormal myelination	55768	NGLY1	OMIM:615273
HP:0012447	Abnormal myelination	1182	CLCN3	OMIM:619512
HP:0012447	Abnormal myelination	1182	CLCN3	OMIM:619517
HP:0012447	Abnormal myelination	149371	EXOC8	OMIM:619076
HP:0012447	Abnormal myelination	54914	FOCAD	OMIM:619991
HP:0012447	Abnormal myelination	56006	SMG9	OMIM:616920
HP:0012447	Abnormal myelination	116115	ZNF526	OMIM:619877
HP:0012447	Abnormal myelination	4191	MDH2	OMIM:617339
HP:0012447	Abnormal myelination	83475	DOHH	OMIM:620066
HP:0012447	Abnormal myelination	6609	SMPD1	OMIM:257200
HP:0012447	Abnormal myelination	728294	D2HGDH	OMIM:600721
HP:0012447	Abnormal myelination	9276	COPB2	OMIM:619884
HP:0012447	Abnormal myelination	9276	COPB2	OMIM:617800
HP:0012447	Abnormal myelination	7358	UGDH	OMIM:618792
HP:0012447	Abnormal myelination	113179	ADAT3	OMIM:615286
HP:0012447	Abnormal myelination	4849	CNOT3	OMIM:618672
HP:0012447	Abnormal myelination	6506	SLC1A2	OMIM:617105
HP:0012447	Abnormal myelination	9440	MED17	OMIM:613668
HP:0012447	Abnormal myelination	25828	TXN2	OMIM:616811
HP:0012447	Abnormal myelination	10430	TMEM147	OMIM:620075
HP:0012447	Abnormal myelination	22880	MORC2	OMIM:619090
HP:0012447	Abnormal myelination	4677	NARS1	OMIM:619091
HP:0012447	Abnormal myelination	7143	TNR	OMIM:619653
HP:0012447	Abnormal myelination	7355	SLC35A2	OMIM:300896
HP:0012447	Abnormal myelination	55120	FANCL	OMIM:614083
HP:0012447	Abnormal myelination	197258	FCSK	OMIM:618324
HP:0012447	Abnormal myelination	85365	ALG2	OMIM:607906
HP:0012447	Abnormal myelination	3798	KIF5A	OMIM:617235
HP:0012447	Abnormal myelination	27086	FOXP1	OMIM:613670
HP:0012447	Abnormal myelination	8218	CLTCL1	ORPHA:453510
HP:0012447	Abnormal myelination	9725	TMEM63A	OMIM:618688
HP:0012447	Abnormal myelination	23219	FBXO28	OMIM:619777
HP:0012447	Abnormal myelination	50628	GEMIN4	OMIM:617913
HP:0012447	Abnormal myelination	2146	EZH2	OMIM:277590
HP:0012447	Abnormal myelination	84978	FRMD5	OMIM:620094
HP:0012447	Abnormal myelination	404672	GTF2H5	OMIM:616395
HP:0012447	Abnormal myelination	51645	PPIL1	OMIM:619301
HP:0012447	Abnormal myelination	8295	TRRAP	OMIM:618454
HP:0012447	Abnormal myelination	10159	ATP6AP2	OMIM:300423
HP:0012447	Abnormal myelination	7040	TGFB1	OMIM:618213
HP:0012447	Abnormal myelination	51362	CDC40	OMIM:619302
HP:0012447	Abnormal myelination	58497	PRUNE1	OMIM:617481
HP:0012447	Abnormal myelination	51693	TRAPPC2L	OMIM:618331
HP:0012447	Abnormal myelination	84188	FAR1	OMIM:616154
HP:0012447	Abnormal myelination	5813	PURA	OMIM:616158
HP:0012447	Abnormal myelination	22907	DHX30	OMIM:617804
HP:0012447	Abnormal myelination	51013	EXOSC1	OMIM:619304
HP:0012447	Abnormal myelination	2744	GLS	OMIM:618339
HP:0012447	Abnormal myelination	81603	TRIM8	OMIM:619428
HP:0012447	Abnormal myelination	339453	TMEM240	OMIM:607454
HP:0012447	Abnormal myelination	9230	RAB11B	OMIM:617807
HP:0012447	Abnormal myelination	55906	ZC4H2	OMIM:301041
HP:0012447	Abnormal myelination	79876	UBA5	OMIM:617132
HP:0012447	Abnormal myelination	30000	TNPO2	OMIM:619556
HP:0012447	Abnormal myelination	2187	FANCB	OMIM:300514
HP:0012447	Abnormal myelination	51412	ACTL6B	OMIM:618468
HP:0012447	Abnormal myelination	55746	NUP133	OMIM:618349
HP:0012447	Abnormal myelination	85358	SHANK3	OMIM:606232
HP:0012447	Abnormal myelination	79796	ALG9	OMIM:608776
HP:0012447	Abnormal myelination	23028	KDM1A	OMIM:616728
HP:0012447	Abnormal myelination	170302	ARX	OMIM:308350
HP:0012447	Abnormal myelination	128869	PIGU	OMIM:618590
HP:0012447	Abnormal myelination	7707	ZNF148	OMIM:617260
HP:0012447	Abnormal myelination	5515	PPP2CA	OMIM:618354
HP:0012447	Abnormal myelination	6567	SLC16A2	OMIM:300523
HP:0012447	Abnormal myelination	79868	ALG13	OMIM:300884
HP:0012447	Abnormal myelination	51601	LIPT1	OMIM:616299
HP:0012447	Abnormal myelination	473	RERE	OMIM:616975
HP:0012447	Abnormal myelination	6513	SLC2A1	OMIM:608885
HP:0012447	Abnormal myelination	23097	CDK19	OMIM:618916
HP:0012447	Abnormal myelination	16	AARS1	OMIM:619691
HP:0012447	Abnormal myelination	10588	MTHFS	OMIM:618367
HP:0012447	Abnormal myelination	23221	RHOBTB2	OMIM:618004
HP:0012447	Abnormal myelination	63925	ZNF335	OMIM:615095
HP:0012447	Abnormal myelination	22930	RAB3GAP1	OMIM:600118
HP:0012447	Abnormal myelination	112939	NACC1	OMIM:617393
HP:0012447	Abnormal myelination	54496	PRMT7	OMIM:617157
HP:0012447	Abnormal myelination	5530	PPP3CA	OMIM:617711
HP:0012447	Abnormal myelination	10352	WARS2	OMIM:617710
HP:0012447	Abnormal myelination	23511	NUP188	OMIM:618804
HP:0012447	Abnormal myelination	26007	TKFC	OMIM:618805
HP:0012447	Abnormal myelination	3054	HCFC1	OMIM:309541
HP:0012447	Abnormal myelination	51608	GET4	OMIM:620200
HP:0012447	Abnormal myelination	4594	MMUT	OMIM:251000
HP:0012447	Abnormal myelination	2898	GRIK2	OMIM:619580
HP:0012447	Abnormal myelination	11342	RNF13	OMIM:618379
HP:0012447	Abnormal myelination	9758	FRMPD4	OMIM:300983
HP:0012447	Abnormal myelination	4761	NEUROD2	OMIM:618374
HP:0012447	Abnormal myelination	54664	TMEM106B	OMIM:617964
HP:0012447	Abnormal myelination	6785	ELOVL4	OMIM:614457
HP:0012447	Abnormal myelination	8883	NAE1	OMIM:620210
HP:0012447	Abnormal myelination	8943	AP3D1	OMIM:617050
HP:0012447	Abnormal myelination	57498	KIDINS220	OMIM:617296
HP:0012447	Abnormal myelination	51095	TRNT1	OMIM:616084
HP:0012447	Abnormal myelination	51501	HIKESHI	OMIM:616881
HP:0012447	Abnormal myelination	94005	PIGS	OMIM:618143
HP:0012447	Abnormal myelination	57468	SLC12A5	OMIM:616645
HP:0012447	Abnormal myelination	3747	KCNC2	OMIM:619913
HP:0012447	Abnormal myelination	1213	CLTC	OMIM:617854
HP:0012447	Abnormal myelination	91461	PKDCC	OMIM:618821
HP:0012447	Abnormal myelination	8452	CUL3	OMIM:619239
HP:0012447	Abnormal myelination	4329	ALDH6A1	OMIM:614105
HP:0012447	Abnormal myelination	3704	ITPA	OMIM:616647
HP:0012447	Abnormal myelination	100147744	RNU7-1	OMIM:619487
HP:0012447	Abnormal myelination	8567	MADD	OMIM:619004
HP:0012447	Abnormal myelination	8567	MADD	OMIM:619005
HP:0012447	Abnormal myelination	51124	IER3IP1	OMIM:614231
HP:0012447	Abnormal myelination	2566	GABRG2	OMIM:618396
HP:0012447	Abnormal myelination	57570	TRMT5	OMIM:616539
HP:0012447	Abnormal myelination	9739	SETD1A	OMIM:618832
HP:0012447	Abnormal myelination	6509	SLC1A4	OMIM:616657
HP:0012447	Abnormal myelination	8911	CACNA1I	OMIM:620114
HP:0012447	Abnormal myelination	617	BCS1L	OMIM:124000
HP:0012447	Abnormal myelination	95	ACY1	OMIM:609924
HP:0012447	Abnormal myelination	6529	SLC6A1	OMIM:616421
HP:0012447	Abnormal myelination	23154	NCDN	OMIM:619373
HP:0012447	Abnormal myelination	5455	POU3F3	OMIM:618604
HP:0012447	Abnormal myelination	5430	POLR2A	OMIM:618603
HP:0012447	Abnormal myelination	81615	TMEM163	OMIM:620243
HP:0012447	Abnormal myelination	9939	RBM8A	OMIM:274000
HP:0012447	Abnormal myelination	124454	EARS2	OMIM:614924
HP:0012447	Abnormal myelination	10079	ATP9A	OMIM:620242
HP:0012447	Abnormal myelination	2801	GOLGA2	OMIM:620240
HP:0012447	Abnormal myelination	64802	NMNAT1	OMIM:619260
HP:0012447	Abnormal myelination	29928	TIMM22	OMIM:618851
HP:0012447	Abnormal myelination	51733	UPB1	OMIM:613161
HP:0012447	Abnormal myelination	57647	DHX37	OMIM:618731
HP:0012447	Abnormal myelination	23404	EXOSC2	OMIM:617763
HP:0012447	Abnormal myelination	221692	PHACTR1	OMIM:618298
HP:0012447	Abnormal myelination	10464	PIBF1	OMIM:617767
HP:0012447	Abnormal myelination	221927	BRAT1	OMIM:614498
HP:0012447	Abnormal myelination	3735	KARS1	OMIM:619196
HP:0012447	Abnormal myelination	5091	PC	OMIM:266150
HP:0012447	Abnormal myelination	54539	NDUFB11	ORPHA:2609
HP:0012447	Abnormal myelination	25915	NDUFAF3	ORPHA:2609
HP:0012447	Abnormal myelination	25915	NDUFAF3	ORPHA:70474
HP:0012447	Abnormal myelination	51103	NDUFAF1	ORPHA:2609
HP:0012447	Abnormal myelination	91942	NDUFAF2	ORPHA:2609
HP:0012447	Abnormal myelination	91942	NDUFAF2	ORPHA:255241
HP:0012447	Abnormal myelination	51300	TIMMDC1	ORPHA:2609
HP:0012447	Abnormal myelination	4716	NDUFB10	ORPHA:2609
HP:0012447	Abnormal myelination	4723	NDUFV1	ORPHA:2609
HP:0012447	Abnormal myelination	4723	NDUFV1	OMIM:618225
HP:0012447	Abnormal myelination	4723	NDUFV1	ORPHA:255241
HP:0012447	Abnormal myelination	284184	NDUFAF8	ORPHA:2609
HP:0012447	Abnormal myelination	55863	TMEM126B	ORPHA:2609
HP:0012447	Abnormal myelination	4535	MT-ND1	ORPHA:2609
HP:0012447	Abnormal myelination	4537	MT-ND3	ORPHA:2609
HP:0012447	Abnormal myelination	4729	NDUFV2	ORPHA:2609
HP:0012447	Abnormal myelination	4729	NDUFV2	ORPHA:255241
HP:0012447	Abnormal myelination	4694	NDUFA1	ORPHA:2609
HP:0012447	Abnormal myelination	4720	NDUFS2	ORPHA:2609
HP:0012447	Abnormal myelination	4720	NDUFS2	ORPHA:70474
HP:0012447	Abnormal myelination	4720	NDUFS2	ORPHA:255241
HP:0012447	Abnormal myelination	4724	NDUFS4	ORPHA:2609
HP:0012447	Abnormal myelination	4724	NDUFS4	ORPHA:255241
HP:0012447	Abnormal myelination	4724	NDUFS4	OMIM:252010
HP:0012447	Abnormal myelination	4726	NDUFS6	ORPHA:2609
HP:0012447	Abnormal myelination	4728	NDUFS8	ORPHA:2609
HP:0012447	Abnormal myelination	4728	NDUFS8	ORPHA:255241
HP:0012447	Abnormal myelination	4722	NDUFS3	ORPHA:2609
HP:0012447	Abnormal myelination	4722	NDUFS3	ORPHA:255241
HP:0012447	Abnormal myelination	79133	NDUFAF5	ORPHA:2609
HP:0012447	Abnormal myelination	79133	NDUFAF5	ORPHA:255241
HP:0012447	Abnormal myelination	126328	NDUFA11	ORPHA:2609
HP:0012447	Abnormal myelination	4709	NDUFB3	ORPHA:2609
HP:0012447	Abnormal myelination	80224	NUBPL	ORPHA:2609
HP:0012447	Abnormal myelination	80224	NUBPL	OMIM:618242
HP:0012447	Abnormal myelination	29078	NDUFAF4	ORPHA:2609
HP:0012447	Abnormal myelination	374291	NDUFS7	ORPHA:2609
HP:0012447	Abnormal myelination	374291	NDUFS7	ORPHA:255241
HP:0012447	Abnormal myelination	4700	NDUFA6	ORPHA:2609
HP:0012447	Abnormal myelination	4536	MT-ND2	ORPHA:2609
HP:0012447	Abnormal myelination	4719	NDUFS1	ORPHA:2609
HP:0012447	Abnormal myelination	4719	NDUFS1	OMIM:618226
HP:0012447	Abnormal myelination	4719	NDUFS1	ORPHA:255241
HP:0012447	Abnormal myelination	4715	NDUFB9	ORPHA:2609
HP:0012447	Abnormal myelination	410	ARSA	ORPHA:309256
HP:0012447	Abnormal myelination	410	ARSA	ORPHA:309271
HP:0012447	Abnormal myelination	410	ARSA	ORPHA:309263
HP:0012447	Abnormal myelination	11019	LIAS	OMIM:614462
HP:0012447	Abnormal myelination	9255	AIMP1	OMIM:260600
HP:0012447	Abnormal myelination	64857	PLEKHG2	OMIM:616763
HP:0012447	Abnormal myelination	100996717	NOTCH2NLC	OMIM:618866
HP:0012447	Abnormal myelination	1605	DAG1	ORPHA:370997
HP:0012447	Abnormal myelination	1605	DAG1	OMIM:616538
HP:0012447	Abnormal myelination	4714	NDUFB8	ORPHA:70474
HP:0012447	Abnormal myelination	9997	SCO2	ORPHA:70474
HP:0012447	Abnormal myelination	6834	SURF1	ORPHA:70474
HP:0012447	Abnormal myelination	6834	SURF1	ORPHA:255241
HP:0012447	Abnormal myelination	51218	GLRX5	ORPHA:401866
HP:0012447	Abnormal myelination	51218	GLRX5	OMIM:616859
HP:0012447	Abnormal myelination	5189	PEX1	OMIM:601539
HP:0012447	Abnormal myelination	122961	ISCA2	OMIM:616370
HP:0012447	Abnormal myelination	5192	PEX10	OMIM:614871
HP:0012447	Abnormal myelination	9409	PEX16	OMIM:614877
HP:0012447	Abnormal myelination	1910	EDNRB	OMIM:277580
HP:0012447	Abnormal myelination	7284	TUFM	OMIM:610678
HP:0012447	Abnormal myelination	51	ACOX1	OMIM:264470
HP:0012447	Abnormal myelination	1340	COX6B1	OMIM:619051
HP:0012447	Abnormal myelination	6389	SDHA	ORPHA:255241
HP:0012447	Abnormal myelination	80704	SLC19A3	ORPHA:255241
HP:0012447	Abnormal myelination	55967	NDUFA12	ORPHA:255241
HP:0012447	Abnormal myelination	51204	TACO1	ORPHA:255241
HP:0012447	Abnormal myelination	137682	NDUFAF6	ORPHA:255241
HP:0012447	Abnormal myelination	5160	PDHA1	ORPHA:255241
HP:0012447	Abnormal myelination	100131801	PET100	ORPHA:255241
HP:0012447	Abnormal myelination	1355	COX15	ORPHA:255241
HP:0012447	Abnormal myelination	1892	ECHS1	ORPHA:255241
HP:0012447	Abnormal myelination	123263	MTFMT	ORPHA:255241
HP:0012447	Abnormal myelination	51079	NDUFA13	ORPHA:255241
HP:0012447	Abnormal myelination	4705	NDUFA10	ORPHA:255241
HP:0012447	Abnormal myelination	4695	NDUFA2	ORPHA:255241
HP:0012447	Abnormal myelination	4697	NDUFA4	ORPHA:255241
HP:0012447	Abnormal myelination	4704	NDUFA9	ORPHA:255241
HP:0012447	Abnormal myelination	57551	TAOK1	OMIM:619575
HP:0012447	Abnormal myelination	23250	ATP11A	OMIM:619851
HP:0012447	Abnormal myelination	727676	SNORD118	OMIM:614561
HP:0012447	Abnormal myelination	103	ADAR	OMIM:615010
HP:0012447	Abnormal myelination	103	ADAR	ORPHA:51
HP:0012447	Abnormal myelination	200205	IBA57	OMIM:615330
HP:0012447	Abnormal myelination	133686	NADK2	ORPHA:431361
HP:0012447	Abnormal myelination	133686	NADK2	OMIM:616034
HP:0012447	Abnormal myelination	7965	AIMP2	OMIM:618006
HP:0012447	Abnormal myelination	85021	REPS1	OMIM:617916
HP:0012447	Abnormal myelination	3431	SP110	ORPHA:79124
HP:0012447	Abnormal myelination	79053	ALG8	ORPHA:79325
HP:0012447	Abnormal myelination	6390	SDHB	OMIM:619224
HP:0012447	Abnormal myelination	8789	FBP2	OMIM:619864
HP:0012447	Abnormal myelination	18	ABAT	OMIM:613163
HP:0012447	Abnormal myelination	55331	ACER3	OMIM:617762
HP:0012447	Abnormal myelination	80169	CTC1	OMIM:612199
HP:0012447	Abnormal myelination	388962	BOLA3	OMIM:614299
HP:0012447	Abnormal myelination	3329	HSPD1	OMIM:612233
HP:0012447	Abnormal myelination	10535	RNASEH2A	OMIM:610333
HP:0012447	Abnormal myelination	10535	RNASEH2A	ORPHA:51
HP:0012447	Abnormal myelination	25939	SAMHD1	OMIM:612952
HP:0012447	Abnormal myelination	25939	SAMHD1	ORPHA:51
HP:0012447	Abnormal myelination	79621	RNASEH2B	ORPHA:51
HP:0012447	Abnormal myelination	11277	TREX1	ORPHA:51
HP:0012447	Abnormal myelination	134353	LSM11	ORPHA:51
HP:0012447	Abnormal myelination	84705	GTPBP3	ORPHA:444013
HP:0012447	Abnormal myelination	2067	ERCC1	ORPHA:90322
HP:0012447	Abnormal myelination	2074	ERCC6	OMIM:133540
HP:0012447	Abnormal myelination	1161	ERCC8	OMIM:216400
HP:0012447	Abnormal myelination	50846	DHH	ORPHA:168563
HP:0012447	Abnormal myelination	23769	FLRT1	ORPHA:320406
HP:0012447	Abnormal myelination	64837	KLC2	ORPHA:320406
HP:0012447	Abnormal myelination	23321	TRIM2	OMIM:615490
HP:0012447	Abnormal myelination	4358	MPV17	OMIM:256810
HP:0012447	Abnormal myelination	7879	RAB7A	OMIM:600882
HP:0012447	Abnormal myelination	10743	RAI1	ORPHA:477817
HP:0012447	Abnormal myelination	56704	JPH1	OMIM:607831
HP:0012447	Abnormal myelination	54463	RETREG1	OMIM:201300
HP:0012447	Abnormal myelination	65125	WNK1	OMIM:201300
HP:0012447	Abnormal myelination	6335	SCN9A	OMIM:201300
HP:0012447	Abnormal myelination	547	KIF1A	OMIM:201300
HP:0012447	Abnormal myelination	55775	TDP1	OMIM:607250
HP:0012447	Abnormal myelination	23230	VPS13A	ORPHA:2388
HP:0012447	Abnormal myelination	1786	DNMT1	OMIM:614116
HP:0012447	Abnormal myelination	91574	MTRFR	OMIM:615035
HP:0012447	Abnormal myelination	91574	MTRFR	ORPHA:320375
HP:0012447	Abnormal myelination	50717	DCAF8	OMIM:610100
HP:0012447	Abnormal myelination	9639	ARHGEF10	OMIM:608236
HP:0012447	Abnormal myelination	59345	GNB4	OMIM:615185
HP:0012447	Abnormal myelination	5375	PMP2	OMIM:618279
HP:0012447	Abnormal myelination	23095	KIF1B	OMIM:118210
HP:0012447	Abnormal myelination	2705	GJB1	OMIM:302800
HP:0012447	Abnormal myelination	64423	INF2	OMIM:614455
HP:0012447	Abnormal myelination	1337	COX6A1	OMIM:616039
HP:0012447	Abnormal myelination	8565	YARS1	OMIM:608323
HP:0012447	Abnormal myelination	9516	LITAF	OMIM:601098
HP:0012447	Abnormal myelination	8518	ELP1	OMIM:223900
HP:0012447	Abnormal myelination	4311	MME	ORPHA:497764
HP:0012447	Abnormal myelination	9927	MFN2	OMIM:617087
HP:0012447	Abnormal myelination	57449	PLEKHG5	OMIM:615376
HP:0012447	Abnormal myelination	54840	APTX	OMIM:208920
HP:0012447	Abnormal myelination	56652	TWNK	OMIM:271245
HP:0012447	Abnormal myelination	26353	HSPB8	OMIM:608673
HP:0012447	Abnormal myelination	57716	PRX	OMIM:614895
HP:0012447	Abnormal myelination	1798	DPAGT1	ORPHA:86309
HP:0012447	Abnormal myelination	91452	ACBD5	OMIM:618863
HP:0012447	Abnormal myelination	84504	NKX6-2	ORPHA:527497
HP:0012447	Abnormal myelination	84504	NKX6-2	OMIM:617560
HP:0012447	Abnormal myelination	8506	CNTNAP1	OMIM:618186
HP:0012447	Abnormal myelination	1859	DYRK1A	ORPHA:268261
HP:0012447	Abnormal myelination	60684	TRAPPC11	OMIM:615356
HP:0012447	Abnormal myelination	55627	SMPD4	OMIM:618622
HP:0012447	Abnormal myelination	79753	SNIP1	OMIM:614501
HP:0012447	Abnormal myelination	1119	CHKA	OMIM:620023
HP:0012447	Abnormal myelination	11128	POLR3A	ORPHA:447896
HP:0012447	Abnormal myelination	11128	POLR3A	ORPHA:88637
HP:0012447	Abnormal myelination	11128	POLR3A	ORPHA:3455
HP:0012447	Abnormal myelination	11128	POLR3A	OMIM:607694
HP:0012447	Abnormal myelination	2521	FUS	ORPHA:300605
HP:0012447	Abnormal myelination	80208	SPG11	ORPHA:300605
HP:0012447	Abnormal myelination	10280	SIGMAR1	ORPHA:300605
HP:0012447	Abnormal myelination	10558	SPTLC1	ORPHA:300605
HP:0012447	Abnormal myelination	57679	ALS2	ORPHA:300605
HP:0012447	Abnormal myelination	9533	POLR1C	OMIM:616494
HP:0012447	Abnormal myelination	9533	POLR1C	ORPHA:88637
HP:0012447	Abnormal myelination	221496	LEMD2	OMIM:619322
HP:0012447	Abnormal myelination	90522	YIF1B	OMIM:619125
HP:0012447	Abnormal myelination	1615	DARS1	OMIM:615281
HP:0012447	Abnormal myelination	55182	RNF220	OMIM:619688
HP:0012447	Abnormal myelination	3074	HEXB	OMIM:268800
HP:0012447	Abnormal myelination	3074	HEXB	ORPHA:309155
HP:0012447	Abnormal myelination	5859	QARS1	OMIM:615760
HP:0012447	Abnormal myelination	9442	MED27	OMIM:619286
HP:0012447	Abnormal myelination	5591	PRKDC	OMIM:615966
HP:0012447	Abnormal myelination	5010	CLDN11	OMIM:619328
HP:0012447	Abnormal myelination	1650	DDOST	ORPHA:300536
HP:0012447	Abnormal myelination	56915	EXOSC5	OMIM:619576
HP:0012447	Abnormal myelination	79989	IFT56	OMIM:619534
HP:0012447	Abnormal myelination	29920	PYCR2	OMIM:616420
HP:0012447	Abnormal myelination	29920	PYCR2	ORPHA:481152
HP:0012447	Abnormal myelination	9197	SLC33A1	OMIM:614482
HP:0012447	Abnormal myelination	64834	ELOVL1	OMIM:618527
HP:0012447	Abnormal myelination	6709	SPTAN1	OMIM:613477
HP:0012447	Abnormal myelination	2058	EPRS1	OMIM:617951
HP:0012447	Abnormal myelination	5194	PEX13	OMIM:614883
HP:0012447	Abnormal myelination	8139	GAN	ORPHA:643
HP:0012447	Abnormal myelination	205327	C2orf69	OMIM:619423
HP:0012447	Abnormal myelination	2752	GLUL	OMIM:610015
HP:0012447	Abnormal myelination	55770	EXOC2	OMIM:619306
HP:0012447	Abnormal myelination	79731	NARS2	OMIM:616239
HP:0012447	Abnormal myelination	54332	GDAP1	OMIM:214400
HP:0012447	Abnormal myelination	27152	INTU	OMIM:617926
HP:0012447	Abnormal myelination	5297	PI4KA	OMIM:619708
HP:0012447	Abnormal myelination	7074	TIAM1	OMIM:619908
HP:0012447	Abnormal myelination	9326	ZNHIT3	OMIM:260565
HP:0012447	Abnormal myelination	4359	MPZ	ORPHA:101082
HP:0012447	Abnormal myelination	6305	SBF1	OMIM:615284
HP:0012447	Abnormal myelination	81846	SBF2	ORPHA:99956
HP:0012447	Abnormal myelination	8898	MTMR2	OMIM:601382
HP:0012447	Abnormal myelination	6904	TBCD	ORPHA:496641
HP:0012447	Abnormal myelination	10134	BCAP31	OMIM:300475
HP:0012447	Abnormal myelination	10134	BCAP31	ORPHA:369939
HP:0012447	Abnormal myelination	158	ADSL	OMIM:103050
HP:0012447	Abnormal myelination	84992	PIGY	ORPHA:247262
HP:0012447	Abnormal myelination	84720	PIGO	ORPHA:247262
HP:0012447	Abnormal myelination	93210	PGAP3	ORPHA:247262
HP:0012447	Abnormal myelination	284098	PIGW	ORPHA:247262
HP:0012447	Abnormal myelination	27315	PGAP2	ORPHA:247262
HP:0012447	Abnormal myelination	55650	PIGV	ORPHA:247262
HP:0012447	Abnormal myelination	9487	PIGL	ORPHA:247262
HP:0012447	Abnormal myelination	160418	TMTC3	OMIM:617255
HP:0012447	Abnormal myelination	84668	HYCC1	ORPHA:85163
HP:0012447	Abnormal myelination	5354	PLP1	ORPHA:280219
HP:0012447	Abnormal myelination	5354	PLP1	ORPHA:280210
HP:0012447	Abnormal myelination	1528	CYB5A	ORPHA:621
HP:0012447	Abnormal myelination	1727	CYB5R3	ORPHA:621
HP:0012447	Abnormal myelination	8604	SLC25A12	OMIM:612949
HP:0012447	Abnormal myelination	1967	EIF2B1	OMIM:603896
HP:0012447	Abnormal myelination	57165	GJC2	OMIM:608804
HP:0012447	Abnormal myelination	80232	WDR26	ORPHA:513456
HP:0012447	Abnormal myelination	5917	RARS1	ORPHA:438114
HP:0012447	Abnormal myelination	6663	SOX10	OMIM:611584
HP:0012447	Abnormal myelination	26227	PHGDH	ORPHA:79351
HP:0012447	Abnormal myelination	10382	TUBB4A	OMIM:612438
HP:0012447	Abnormal myelination	55157	DARS2	ORPHA:137898
HP:0012447	Abnormal myelination	79152	FA2H	OMIM:612319
HP:0012447	Abnormal myelination	79628	SH3TC2	OMIM:601596
HP:0012447	Abnormal myelination	1785	DNM2	OMIM:606482
HP:0012447	Abnormal myelination	8729	GBF1	OMIM:606483
HP:0012447	Abnormal myelination	5428	POLG	ORPHA:298
HP:0012447	Abnormal myelination	1890	TYMP	ORPHA:298
HP:0012447	Abnormal myelination	3980	LIG3	ORPHA:298
HP:0012447	Abnormal myelination	50484	RRM2B	ORPHA:298
HP:0012447	Abnormal myelination	5981	RFC1	ORPHA:504476
HP:0012447	Abnormal myelination	51651	PTRH2	OMIM:616263
HP:0012447	Abnormal myelination	8560	DEGS1	OMIM:618404
HP:0012447	Abnormal myelination	7841	MOGS	OMIM:606056
HP:0012447	Abnormal myelination	57731	SPTBN4	OMIM:617519
HP:0012447	Abnormal myelination	10939	AFG3L2	ORPHA:313772
HP:0012447	Abnormal myelination	10397	NDRG1	ORPHA:99950
HP:0012447	Abnormal myelination	4577	MT-TV	ORPHA:255210
HP:0012447	Abnormal myelination	4508	MT-ATP6	ORPHA:255210
HP:0012447	Abnormal myelination	4566	MT-TK	ORPHA:255210
HP:0012447	Abnormal myelination	26278	SACS	ORPHA:98
HP:0012447	Abnormal myelination	5611	DNAJC3	ORPHA:445062
HP:0012447	Abnormal myelination	23503	ZFYVE26	ORPHA:100996
HP:0012447	Abnormal myelination	4126	MANBA	OMIM:248510
HP:0012447	Abnormal myelination	26090	ABHD12	OMIM:612674
HP:0012447	Abnormal myelination	2073	ERCC5	ORPHA:220295
HP:0012447	Abnormal myelination	2072	ERCC4	ORPHA:220295
HP:0012447	Abnormal myelination	5376	PMP22	ORPHA:90658
HP:0012447	Abnormal myelination	5376	PMP22	ORPHA:101081
HP:0012447	Abnormal myelination	50	ACO2	OMIM:614559
HP:0012447	Abnormal myelination	3035	HARS1	ORPHA:488333
HP:0012447	Abnormal myelination	9531	BAG3	OMIM:612954
HP:0012447	Abnormal myelination	7443	VRK1	OMIM:607596
HP:0012447	Abnormal myelination	165918	RNF168	ORPHA:420741
HP:0012447	Abnormal myelination	9990	SLC12A6	OMIM:218000
HP:0012447	Abnormal myelination	2670	GFAP	OMIM:203450
HP:0012447	Abnormal myelination	5654	HTRA1	OMIM:600142
HP:0012447	Abnormal myelination	215	ABCD1	ORPHA:139396
HP:0012447	Abnormal myelination	3766	KCNJ10	ORPHA:199343
HP:0012447	Abnormal myelination	3766	KCNJ10	OMIM:612780
HP:0012447	Abnormal myelination	9150	CTDP1	OMIM:604168
HP:0012447	Abnormal myelination	8449	DHX16	OMIM:618733
HP:0012447	Abnormal myelination	1959	EGR2	OMIM:605253
HP:0012447	Abnormal myelination	9896	FIG4	OMIM:611228
HP:0012447	Abnormal myelination	121512	FGD4	OMIM:609311
HP:0012447	Abnormal myelination	112	ADCY6	OMIM:616287
HP:0012447	Abnormal myelination	3098	HK1	OMIM:605285
HP:0012447	Abnormal myelination	246243	RNASEH1	OMIM:616479
HP:0012447	Abnormal myelination	85465	SELENOI	ORPHA:506353
HP:0012447	Abnormal myelination	4747	NEFL	ORPHA:99939
HP:0012447	Abnormal myelination	4747	NEFL	ORPHA:101085
HP:0012447	Abnormal myelination	4803	NGF	ORPHA:64752
HP:0012447	Abnormal myelination	4914	NTRK1	ORPHA:64752
HP:0012447	Abnormal myelination	4914	NTRK1	OMIM:256800
HP:0012447	Abnormal myelination	4000	LMNA	ORPHA:98856
HP:0012447	Abnormal myelination	54872	PIGG	ORPHA:488635
HP:0012447	Abnormal myelination	79944	L2HGDH	OMIM:236792
HP:0012447	Abnormal myelination	4001	LMNB1	OMIM:169500
HP:0012447	Abnormal myelination	1513	CTSK	ORPHA:763
HP:0012447	Abnormal myelination	9289	ADGRG1	OMIM:606854
HP:0012447	Abnormal myelination	9289	ADGRG1	ORPHA:101070
HP:0012447	Abnormal myelination	3295	HSD17B4	OMIM:261515
HP:0012447	Abnormal myelination	5660	PSAP	OMIM:611722
HP:0012447	Abnormal myelination	2068	ERCC2	ORPHA:33364
HP:0012447	Abnormal myelination	7737	RNF113A	ORPHA:33364
HP:0012447	Abnormal myelination	136647	MPLKIP	ORPHA:33364
HP:0012447	Abnormal myelination	6897	TARS1	ORPHA:33364
HP:0012447	Abnormal myelination	2071	ERCC3	ORPHA:33364
HP:0012447	Abnormal myelination	2961	GTF2E2	ORPHA:33364
HP:0012447	Abnormal myelination	5728	PTEN	ORPHA:101070
HP:0012447	Abnormal myelination	57192	MCOLN1	OMIM:252650
HP:0012447	Abnormal myelination	10128	LRPPRC	OMIM:220111
HP:0012447	Abnormal myelination	443	ASPA	OMIM:271900
HP:0012447	Abnormal myelination	1436	CSF1R	OMIM:221820
HP:0012447	Abnormal myelination	4547	MTTP	OMIM:200100
HP:0012447	Abnormal myelination	1593	CYP27A1	ORPHA:909
HP:0012447	Abnormal myelination	5173	PDYN	OMIM:610245
HP:0012447	Abnormal myelination	5824	PEX19	OMIM:614886
HP:0012447	Abnormal myelination	3643	INSR	ORPHA:769
HP:0012447	Abnormal myelination	4143	MAT1A	OMIM:250850
HP:0012447	Abnormal myelination	8496	PPFIBP1	OMIM:620024
HP:0012447	Abnormal myelination	285362	SUMF1	OMIM:272200
HP:0012447	Abnormal myelination	224	ALDH3A2	OMIM:270200
HP:0012447	Abnormal myelination	54209	TREM2	OMIM:618193
HP:0012447	Abnormal myelination	5551	PRF1	OMIM:603553
HP:0012447	Abnormal myelination	2581	GALC	OMIM:245200
HP:0012447	Abnormal myelination	2581	GALC	ORPHA:206448
HP:0012447	Abnormal myelination	3119	HLA-DQB1	OMIM:126200
HP:0012447	Abnormal myelination	5133	PDCD1	OMIM:126200
HP:0012447	Abnormal myelination	3123	HLA-DRB1	OMIM:126200
HP:0012447	Abnormal myelination	4558	MT-TF	ORPHA:550
HP:0012447	Abnormal myelination	4572	MT-TQ	ORPHA:550
HP:0012447	Abnormal myelination	4512	MT-CO1	ORPHA:550
HP:0012447	Abnormal myelination	4513	MT-CO2	ORPHA:550
HP:0012447	Abnormal myelination	4514	MT-CO3	ORPHA:550
HP:0012447	Abnormal myelination	4578	MT-TW	ORPHA:550
HP:0012447	Abnormal myelination	4540	MT-ND5	ORPHA:550
HP:0012447	Abnormal myelination	4541	MT-ND6	ORPHA:550
HP:0012447	Abnormal myelination	4538	MT-ND4	ORPHA:550
HP:0012447	Abnormal myelination	4567	MT-TL1	ORPHA:550
HP:0012447	Abnormal myelination	4574	MT-TS1	ORPHA:550
HP:0012447	Abnormal myelination	4575	MT-TS2	ORPHA:550
HP:0012447	Abnormal myelination	4564	MT-TH	ORPHA:550
HP:0012447	Abnormal myelination	540	ATP7B	OMIM:277900
HP:0012447	Abnormal myelination	5159	PDGFRB	OMIM:601812
HP:0012447	Abnormal myelination	6311	ATXN2	ORPHA:98756
HP:0012447	Abnormal myelination	10749	KIF1C	ORPHA:397946
HP:0012447	Abnormal myelination	7343	UBTF	OMIM:617672
HP:0012447	Abnormal myelination	4337	MOCS1	OMIM:252150
HP:0012447	Abnormal myelination	19	ABCA1	OMIM:205400
HP:0012447	Abnormal myelination	25974	MMACHC	ORPHA:79282
HP:0012447	Abnormal myelination	7305	TYROBP	OMIM:221770
HP:0012447	Abnormal myelination	10229	COQ7	OMIM:616733
HP:0012447	Abnormal myelination	4338	MOCS2	OMIM:252160
HP:0012447	Abnormal myelination	28982	FLVCR1	OMIM:609033
HP:0012447	Abnormal myelination	84987	COX14	OMIM:619053
HP:0012447	Abnormal myelination	54828	BCAS3	OMIM:619641
HP:0012447	Abnormal myelination	84706	GPT2	ORPHA:477673
HP:0012447	Abnormal myelination	2548	GAA	OMIM:232300
HP:0012447	Abnormal myelination	8635	RNASET2	OMIM:612951
HP:0012447	Abnormal myelination	23729	SHPK	ORPHA:440713
HP:0012447	Abnormal myelination	5238	PGM3	OMIM:615816
HP:0012447	Abnormal myelination	3425	IDUA	OMIM:607014
HP:0012447	Abnormal myelination	65260	COA7	OMIM:618387
HP:0012447	Abnormal myelination	25782	RAB3GAP2	ORPHA:401830
HP:0012447	Abnormal myelination	51663	ZFR	ORPHA:401840
HP:0012447	Abnormal myelination	10342	TFG	ORPHA:431329
HP:0012447	Abnormal myelination	374879	ZNF699	OMIM:619488
HP:0012447	Abnormal myelination	6658	SOX3	ORPHA:67045
HP:0012447	Abnormal myelination	4141	MARS1	ORPHA:401835
HP:0012447	Abnormal myelination	28962	OSTM1	ORPHA:85179
HP:0012447	Abnormal myelination	7862	BRPF1	OMIM:617333
HP:0012447	Abnormal myelination	2903	GRIN2A	ORPHA:289266
HP:0012447	Abnormal myelination	55532	SLC30A10	ORPHA:309854
HP:0012447	Abnormal myelination	26005	C2CD3	ORPHA:434179
HP:0012447	Abnormal myelination	3912	LAMB1	ORPHA:352682
HP:0012447	Abnormal myelination	3737	KCNA2	ORPHA:442835
HP:0012447	Abnormal myelination	1759	DNM1	ORPHA:442835
HP:0012447	Abnormal myelination	8120	AP3B2	ORPHA:442835
HP:0012447	Abnormal myelination	523	ATP6V1A	ORPHA:442835
HP:0012447	Abnormal myelination	10991	SLC38A3	ORPHA:442835
HP:0012447	Abnormal myelination	22906	TRAK1	ORPHA:442835
HP:0012447	Abnormal myelination	1917	EEF1A2	ORPHA:442835
HP:0012447	Abnormal myelination	2561	GABRB2	ORPHA:442835
HP:0012447	Abnormal myelination	8831	SYNGAP1	ORPHA:442835
HP:0012447	Abnormal myelination	7532	YWHAG	ORPHA:442835
HP:0012447	Abnormal myelination	6328	SCN3A	ORPHA:442835
HP:0012447	Abnormal myelination	2558	GABRA5	ORPHA:442835
HP:0012447	Abnormal myelination	781	CACNA2D1	ORPHA:442835
HP:0012447	Abnormal myelination	2906	GRIN2D	ORPHA:442835
HP:0012447	Abnormal myelination	116150	NUS1	ORPHA:442835
HP:0012447	Abnormal myelination	10659	CELF2	ORPHA:442835
HP:0012447	Abnormal myelination	774	CACNA1B	ORPHA:442835
HP:0012447	Abnormal myelination	23334	SZT2	ORPHA:442835
HP:0012447	Abnormal myelination	348980	HCN1	ORPHA:442835
HP:0012447	Abnormal myelination	8867	SYNJ1	ORPHA:442835
HP:0012447	Abnormal myelination	2258	FGF13	ORPHA:442835
HP:0012447	Abnormal myelination	477	ATP1A2	ORPHA:442835
HP:0012447	Abnormal myelination	3745	KCNB1	ORPHA:442835
HP:0012447	Abnormal myelination	25977	NECAP1	ORPHA:442835
HP:0012447	Abnormal myelination	6334	SCN8A	ORPHA:442835
HP:0012447	Abnormal myelination	22866	CNKSR2	ORPHA:442835
HP:0012447	Abnormal myelination	9568	GABBR2	ORPHA:442835
HP:0012447	Abnormal myelination	2555	GABRA2	ORPHA:442835
HP:0012447	Abnormal myelination	55152	DALRD3	ORPHA:442835
HP:0012447	Abnormal myelination	773	CACNA1A	ORPHA:442835
HP:0012447	Abnormal myelination	26999	CYFIP2	ORPHA:442835
HP:0012447	Abnormal myelination	25973	PARS2	ORPHA:442835
HP:0012447	Abnormal myelination	64801	ARV1	ORPHA:442835
HP:0012447	Abnormal myelination	79947	DHDDS	ORPHA:442835
HP:0012447	Abnormal myelination	2257	FGF12	ORPHA:442835
HP:0012447	Abnormal myelination	91949	COG7	OMIM:608779
HP:0012447	Abnormal myelination	6535	SLC6A8	OMIM:300352
HP:0012447	Abnormal myelination	10617	STAMBP	OMIM:614261
HP:0012447	Abnormal myelination	10466	COG5	ORPHA:263487
HP:0012447	Abnormal myelination	2290	FOXG1	OMIM:613454
HP:0012447	Abnormal myelination	85476	GFM1	OMIM:609060
HP:0012447	Abnormal myelination	56945	MRPS22	OMIM:611719
HP:0012447	Abnormal myelination	5631	PRPS1	ORPHA:423479
HP:0012447	Abnormal myelination	1349	COX7B	OMIM:300887
HP:0012447	Abnormal myelination	51741	WWOX	OMIM:616211
HP:0012447	Abnormal myelination	2782	GNB1	ORPHA:488613
HP:0012447	Abnormal myelination	2782	GNB1	OMIM:616973
HP:0012447	Abnormal myelination	4552	MTRR	ORPHA:2169
HP:0012447	Abnormal myelination	55904	KMT2E	OMIM:618512
HP:0012447	Abnormal myelination	2033	EP300	ORPHA:353284
HP:0012447	Abnormal myelination	10978	CLP1	OMIM:615803
HP:0012447	Abnormal myelination	3417	IDH1	ORPHA:99646
HP:0012447	Abnormal myelination	87178	PNPT1	ORPHA:319514
HP:0012447	Abnormal myelination	7337	UBE3A	ORPHA:98794
HP:0012447	Abnormal myelination	4948	OCA2	ORPHA:98794
HP:0012447	Abnormal myelination	3192	HNRNPU	OMIM:617391
HP:0012447	Abnormal myelination	4125	MAN2B1	OMIM:248500
HP:0012447	Abnormal myelination	55572	FOXRED1	OMIM:618241
HP:0012447	Abnormal myelination	4915	NTRK2	OMIM:617830
HP:0012447	Abnormal myelination	4915	NTRK2	OMIM:613886
HP:0012447	Abnormal myelination	201163	FLCN	OMIM:610883
HP:0012447	Abnormal myelination	1183	CLCN4	ORPHA:485350
HP:0012447	Abnormal myelination	29968	PSAT1	ORPHA:284417
HP:0012447	Abnormal myelination	191	AHCY	ORPHA:88618
HP:0012447	Abnormal myelination	171023	ASXL1	ORPHA:97297
HP:0012447	Abnormal myelination	5277	PIGA	OMIM:300868
HP:0012447	Abnormal myelination	92949	ADAMTSL1	ORPHA:521445
HP:0012447	Abnormal myelination	1641	DCX	ORPHA:2148
HP:0012447	Abnormal myelination	57531	HACE1	OMIM:616756
HP:0012447	Abnormal myelination	7025	NR2F1	ORPHA:401777
HP:0012447	Abnormal myelination	6905	TBCE	OMIM:241410
HP:0012447	Abnormal myelination	6711	SPTBN1	OMIM:619475
HP:0012447	Abnormal myelination	81689	ISCA1	OMIM:617613
HP:0012447	Abnormal myelination	51091	SEPSECS	OMIM:613811
HP:0012447	Abnormal myelination	79751	SLC25A22	OMIM:609304
HP:0012447	Abnormal myelination	79751	SLC25A22	ORPHA:1934
HP:0012447	Abnormal myelination	57459	GATAD2B	ORPHA:363686
HP:0012447	Abnormal myelination	23556	PIGN	ORPHA:280633
HP:0012447	Abnormal myelination	6857	SYT1	ORPHA:522077
HP:0012447	Abnormal myelination	5058	PAK1	OMIM:618158
HP:0012447	Abnormal myelination	440138	ALG11	ORPHA:280071
HP:0012447	Abnormal myelination	2232	FDXR	ORPHA:543470
HP:0012447	Abnormal myelination	9373	PLAA	ORPHA:521426
HP:0012447	Abnormal myelination	9373	PLAA	OMIM:617527
HP:0012447	Abnormal myelination	64135	IFIH1	OMIM:615846
HP:0012447	Abnormal myelination	84919	PPP1R15B	OMIM:616817
HP:0012447	Abnormal myelination	84919	PPP1R15B	ORPHA:391408
HP:0012447	Abnormal myelination	93587	TRMT10A	ORPHA:391408
HP:0012447	Abnormal myelination	23314	SATB2	ORPHA:576283
HP:0012447	Abnormal myelination	5373	PMM2	ORPHA:79318
HP:0012447	Abnormal myelination	23162	MAPK8IP3	OMIM:618443
HP:0012447	Abnormal myelination	440	ASNS	OMIM:615574
HP:0012447	Abnormal myelination	1387	CREBBP	ORPHA:353277
HP:0012447	Abnormal myelination	55005	RMND1	OMIM:614922
HP:0012447	Abnormal myelination	8813	DPM1	ORPHA:79322
HP:0012447	Abnormal myelination	1719	DHFR	OMIM:613839
HP:0012447	Abnormal myelination	84153	RNASEH2C	OMIM:610329
HP:0012447	Abnormal myelination	79087	ALG12	ORPHA:79324
HP:0012447	Abnormal myelination	2639	GCDH	OMIM:231670
HP:0012447	Abnormal myelination	6576	SLC25A1	OMIM:615182
HP:0012447	Abnormal myelination	3658	IREB2	OMIM:618451
HP:0012447	Abnormal myelination	51053	GMNN	OMIM:616835
HP:0012447	Abnormal myelination	284111	SLC13A5	OMIM:615905
HP:0012447	Abnormal myelination	6792	CDKL5	ORPHA:1934
HP:0012447	Abnormal myelination	3736	KCNA1	ORPHA:1934
HP:0012447	Abnormal myelination	9091	PIGQ	ORPHA:1934
HP:0012447	Abnormal myelination	2902	GRIN1	ORPHA:1934
HP:0012447	Abnormal myelination	150094	SIK1	ORPHA:1934
HP:0012447	Abnormal myelination	8573	CASK	ORPHA:1934
HP:0012447	Abnormal myelination	23312	DMXL2	ORPHA:1934
HP:0012447	Abnormal myelination	2917	GRM7	ORPHA:1934
HP:0012447	Abnormal myelination	11284	PNKP	ORPHA:1934
HP:0012447	Abnormal myelination	6326	SCN2A	ORPHA:1934
HP:0012447	Abnormal myelination	51227	PIGP	ORPHA:1934
HP:0012447	Abnormal myelination	6324	SCN1B	ORPHA:1934
HP:0012447	Abnormal myelination	84334	COA8	OMIM:619061
HP:0012448	Delayed myelination	199857	ALG14	OMIM:619031
HP:0012448	Delayed myelination	199857	ALG14	OMIM:619036
HP:0012448	Delayed myelination	9131	AIFM1	OMIM:300232
HP:0012448	Delayed myelination	26235	FBXL4	OMIM:615471
HP:0012448	Delayed myelination	8367	H4C5	OMIM:619950
HP:0012448	Delayed myelination	104	ADARB1	OMIM:618862
HP:0012448	Delayed myelination	375	ARF1	OMIM:618185
HP:0012448	Delayed myelination	2775	GNAO1	OMIM:615473
HP:0012448	Delayed myelination	2775	GNAO1	OMIM:617493
HP:0012448	Delayed myelination	6873	TAF2	OMIM:615599
HP:0012448	Delayed myelination	10059	DNM1L	OMIM:614388
HP:0012448	Delayed myelination	55823	VPS11	ORPHA:466934
HP:0012448	Delayed myelination	23417	MLYCD	OMIM:248360
HP:0012448	Delayed myelination	4897	NRCAM	OMIM:619833
HP:0012448	Delayed myelination	347734	SLC35B2	OMIM:620269
HP:0012448	Delayed myelination	81570	CLPB	OMIM:619835
HP:0012448	Delayed myelination	51343	FZR1	OMIM:620145
HP:0012448	Delayed myelination	23126	POGZ	ORPHA:468678
HP:0012448	Delayed myelination	23126	POGZ	OMIM:616364
HP:0012448	Delayed myelination	51506	UFC1	OMIM:618076
HP:0012448	Delayed myelination	283489	CHAMP1	OMIM:616579
HP:0012448	Delayed myelination	387787	LIPT2	OMIM:617668
HP:0012448	Delayed myelination	57465	TBC1D24	ORPHA:352596
HP:0012448	Delayed myelination	4010	LMX1B	ORPHA:495818
HP:0012448	Delayed myelination	6812	STXBP1	ORPHA:495818
HP:0012448	Delayed myelination	6812	STXBP1	OMIM:612164
HP:0012448	Delayed myelination	478	ATP1A3	OMIM:619606
HP:0012448	Delayed myelination	166378	AFG2A	OMIM:616577
HP:0012448	Delayed myelination	65082	VPS33A	OMIM:617303
HP:0012448	Delayed myelination	10730	YME1L1	OMIM:617302
HP:0012448	Delayed myelination	375387	NRROS	OMIM:618875
HP:0012448	Delayed myelination	80055	PGAP1	OMIM:615802
HP:0012448	Delayed myelination	5610	EIF2AK2	OMIM:618877
HP:0012448	Delayed myelination	3781	KCNN2	OMIM:619725
HP:0012448	Delayed myelination	9915	ARNT2	OMIM:615926
HP:0012448	Delayed myelination	57582	KCNT1	OMIM:614959
HP:0012448	Delayed myelination	79693	YRDC	OMIM:619609
HP:0012448	Delayed myelination	57492	ARID1B	OMIM:135900
HP:0012448	Delayed myelination	55870	ASH1L	OMIM:617796
HP:0012448	Delayed myelination	6884	TAF13	OMIM:617432
HP:0012448	Delayed myelination	7528	YY1	OMIM:617557
HP:0012448	Delayed myelination	5191	PEX7	OMIM:215100
HP:0012448	Delayed myelination	501	ALDH7A1	ORPHA:3006
HP:0012448	Delayed myelination	11212	PLPBP	ORPHA:3006
HP:0012448	Delayed myelination	652	BMP4	OMIM:607932
HP:0012448	Delayed myelination	1656	DDX6	OMIM:618653
HP:0012448	Delayed myelination	55703	POLR3B	OMIM:619742
HP:0012448	Delayed myelination	497661	C18orf32	OMIM:619985
HP:0012448	Delayed myelination	23327	NEDD4L	OMIM:617201
HP:0012448	Delayed myelination	132158	GLYCTK	OMIM:220120
HP:0012448	Delayed myelination	833	CARS1	OMIM:618891
HP:0012448	Delayed myelination	57178	ZMIZ1	OMIM:618659
HP:0012448	Delayed myelination	2783	GNB2	OMIM:619503
HP:0012448	Delayed myelination	25942	SIN3A	OMIM:613406
HP:0012448	Delayed myelination	7915	ALDH5A1	OMIM:271980
HP:0012448	Delayed myelination	27245	AHDC1	OMIM:615829
HP:0012448	Delayed myelination	1499	CTNNB1	ORPHA:404473
HP:0012448	Delayed myelination	9653	HS2ST1	OMIM:619194
HP:0012448	Delayed myelination	5518	PPP2R1A	OMIM:616362
HP:0012448	Delayed myelination	1186	CLCN7	OMIM:618541
HP:0012448	Delayed myelination	55768	NGLY1	OMIM:615273
HP:0012448	Delayed myelination	1182	CLCN3	OMIM:619512
HP:0012448	Delayed myelination	1182	CLCN3	OMIM:619517
HP:0012448	Delayed myelination	149371	EXOC8	OMIM:619076
HP:0012448	Delayed myelination	54914	FOCAD	OMIM:619991
HP:0012448	Delayed myelination	56006	SMG9	OMIM:616920
HP:0012448	Delayed myelination	116115	ZNF526	OMIM:619877
HP:0012448	Delayed myelination	4191	MDH2	OMIM:617339
HP:0012448	Delayed myelination	83475	DOHH	OMIM:620066
HP:0012448	Delayed myelination	6609	SMPD1	OMIM:257200
HP:0012448	Delayed myelination	728294	D2HGDH	OMIM:600721
HP:0012448	Delayed myelination	9276	COPB2	OMIM:619884
HP:0012448	Delayed myelination	9276	COPB2	OMIM:617800
HP:0012448	Delayed myelination	7358	UGDH	OMIM:618792
HP:0012448	Delayed myelination	113179	ADAT3	OMIM:615286
HP:0012448	Delayed myelination	4849	CNOT3	OMIM:618672
HP:0012448	Delayed myelination	6506	SLC1A2	OMIM:617105
HP:0012448	Delayed myelination	9440	MED17	OMIM:613668
HP:0012448	Delayed myelination	25828	TXN2	OMIM:616811
HP:0012448	Delayed myelination	10430	TMEM147	OMIM:620075
HP:0012448	Delayed myelination	22880	MORC2	OMIM:619090
HP:0012448	Delayed myelination	4677	NARS1	OMIM:619091
HP:0012448	Delayed myelination	7143	TNR	OMIM:619653
HP:0012448	Delayed myelination	7355	SLC35A2	OMIM:300896
HP:0012448	Delayed myelination	55120	FANCL	OMIM:614083
HP:0012448	Delayed myelination	197258	FCSK	OMIM:618324
HP:0012448	Delayed myelination	85365	ALG2	OMIM:607906
HP:0012448	Delayed myelination	3798	KIF5A	OMIM:617235
HP:0012448	Delayed myelination	27086	FOXP1	OMIM:613670
HP:0012448	Delayed myelination	8218	CLTCL1	ORPHA:453510
HP:0012448	Delayed myelination	9725	TMEM63A	OMIM:618688
HP:0012448	Delayed myelination	23219	FBXO28	OMIM:619777
HP:0012448	Delayed myelination	50628	GEMIN4	OMIM:617913
HP:0012448	Delayed myelination	2146	EZH2	OMIM:277590
HP:0012448	Delayed myelination	84978	FRMD5	OMIM:620094
HP:0012448	Delayed myelination	404672	GTF2H5	OMIM:616395
HP:0012448	Delayed myelination	51645	PPIL1	OMIM:619301
HP:0012448	Delayed myelination	8295	TRRAP	OMIM:618454
HP:0012448	Delayed myelination	10159	ATP6AP2	OMIM:300423
HP:0012448	Delayed myelination	7040	TGFB1	OMIM:618213
HP:0012448	Delayed myelination	51362	CDC40	OMIM:619302
HP:0012448	Delayed myelination	58497	PRUNE1	OMIM:617481
HP:0012448	Delayed myelination	51693	TRAPPC2L	OMIM:618331
HP:0012448	Delayed myelination	84188	FAR1	OMIM:616154
HP:0012448	Delayed myelination	5813	PURA	OMIM:616158
HP:0012448	Delayed myelination	22907	DHX30	OMIM:617804
HP:0012448	Delayed myelination	51013	EXOSC1	OMIM:619304
HP:0012448	Delayed myelination	2744	GLS	OMIM:618339
HP:0012448	Delayed myelination	81603	TRIM8	OMIM:619428
HP:0012448	Delayed myelination	339453	TMEM240	OMIM:607454
HP:0012448	Delayed myelination	9230	RAB11B	OMIM:617807
HP:0012448	Delayed myelination	55906	ZC4H2	OMIM:301041
HP:0012448	Delayed myelination	79876	UBA5	OMIM:617132
HP:0012448	Delayed myelination	30000	TNPO2	OMIM:619556
HP:0012448	Delayed myelination	2187	FANCB	OMIM:300514
HP:0012448	Delayed myelination	51412	ACTL6B	OMIM:618468
HP:0012448	Delayed myelination	55746	NUP133	OMIM:618349
HP:0012448	Delayed myelination	85358	SHANK3	OMIM:606232
HP:0012448	Delayed myelination	79796	ALG9	OMIM:608776
HP:0012448	Delayed myelination	23028	KDM1A	OMIM:616728
HP:0012448	Delayed myelination	170302	ARX	OMIM:308350
HP:0012448	Delayed myelination	128869	PIGU	OMIM:618590
HP:0012448	Delayed myelination	7707	ZNF148	OMIM:617260
HP:0012448	Delayed myelination	5515	PPP2CA	OMIM:618354
HP:0012448	Delayed myelination	6567	SLC16A2	OMIM:300523
HP:0012448	Delayed myelination	79868	ALG13	OMIM:300884
HP:0012448	Delayed myelination	51601	LIPT1	OMIM:616299
HP:0012448	Delayed myelination	473	RERE	OMIM:616975
HP:0012448	Delayed myelination	6513	SLC2A1	OMIM:608885
HP:0012448	Delayed myelination	23097	CDK19	OMIM:618916
HP:0012448	Delayed myelination	16	AARS1	OMIM:619691
HP:0012448	Delayed myelination	10588	MTHFS	OMIM:618367
HP:0012448	Delayed myelination	23221	RHOBTB2	OMIM:618004
HP:0012448	Delayed myelination	63925	ZNF335	OMIM:615095
HP:0012448	Delayed myelination	22930	RAB3GAP1	OMIM:600118
HP:0012448	Delayed myelination	112939	NACC1	OMIM:617393
HP:0012448	Delayed myelination	54496	PRMT7	OMIM:617157
HP:0012448	Delayed myelination	5530	PPP3CA	OMIM:617711
HP:0012448	Delayed myelination	10352	WARS2	OMIM:617710
HP:0012448	Delayed myelination	23511	NUP188	OMIM:618804
HP:0012448	Delayed myelination	26007	TKFC	OMIM:618805
HP:0012448	Delayed myelination	3054	HCFC1	OMIM:309541
HP:0012448	Delayed myelination	51608	GET4	OMIM:620200
HP:0012448	Delayed myelination	4594	MMUT	OMIM:251000
HP:0012448	Delayed myelination	2898	GRIK2	OMIM:619580
HP:0012448	Delayed myelination	11342	RNF13	OMIM:618379
HP:0012448	Delayed myelination	9758	FRMPD4	OMIM:300983
HP:0012448	Delayed myelination	4761	NEUROD2	OMIM:618374
HP:0012448	Delayed myelination	54664	TMEM106B	OMIM:617964
HP:0012448	Delayed myelination	6785	ELOVL4	OMIM:614457
HP:0012448	Delayed myelination	8883	NAE1	OMIM:620210
HP:0012448	Delayed myelination	8943	AP3D1	OMIM:617050
HP:0012448	Delayed myelination	57498	KIDINS220	OMIM:617296
HP:0012448	Delayed myelination	51095	TRNT1	OMIM:616084
HP:0012448	Delayed myelination	51501	HIKESHI	OMIM:616881
HP:0012448	Delayed myelination	94005	PIGS	OMIM:618143
HP:0012448	Delayed myelination	57468	SLC12A5	OMIM:616645
HP:0012448	Delayed myelination	3747	KCNC2	OMIM:619913
HP:0012448	Delayed myelination	1213	CLTC	OMIM:617854
HP:0012448	Delayed myelination	91461	PKDCC	OMIM:618821
HP:0012448	Delayed myelination	8452	CUL3	OMIM:619239
HP:0012448	Delayed myelination	4329	ALDH6A1	OMIM:614105
HP:0012448	Delayed myelination	3704	ITPA	OMIM:616647
HP:0012448	Delayed myelination	100147744	RNU7-1	OMIM:619487
HP:0012448	Delayed myelination	8567	MADD	OMIM:619004
HP:0012448	Delayed myelination	8567	MADD	OMIM:619005
HP:0012448	Delayed myelination	51124	IER3IP1	OMIM:614231
HP:0012448	Delayed myelination	2566	GABRG2	OMIM:618396
HP:0012448	Delayed myelination	57570	TRMT5	OMIM:616539
HP:0012448	Delayed myelination	9739	SETD1A	OMIM:618832
HP:0012448	Delayed myelination	6509	SLC1A4	OMIM:616657
HP:0012448	Delayed myelination	8911	CACNA1I	OMIM:620114
HP:0012448	Delayed myelination	617	BCS1L	OMIM:124000
HP:0012448	Delayed myelination	95	ACY1	OMIM:609924
HP:0012448	Delayed myelination	6529	SLC6A1	OMIM:616421
HP:0012448	Delayed myelination	23154	NCDN	OMIM:619373
HP:0012448	Delayed myelination	5455	POU3F3	OMIM:618604
HP:0012448	Delayed myelination	5430	POLR2A	OMIM:618603
HP:0012448	Delayed myelination	81615	TMEM163	OMIM:620243
HP:0012448	Delayed myelination	9939	RBM8A	OMIM:274000
HP:0012448	Delayed myelination	124454	EARS2	OMIM:614924
HP:0012448	Delayed myelination	10079	ATP9A	OMIM:620242
HP:0012448	Delayed myelination	2801	GOLGA2	OMIM:620240
HP:0012448	Delayed myelination	64802	NMNAT1	OMIM:619260
HP:0012448	Delayed myelination	29928	TIMM22	OMIM:618851
HP:0012448	Delayed myelination	51733	UPB1	OMIM:613161
HP:0012448	Delayed myelination	57647	DHX37	OMIM:618731
HP:0012448	Delayed myelination	23404	EXOSC2	OMIM:617763
HP:0012448	Delayed myelination	221692	PHACTR1	OMIM:618298
HP:0012448	Delayed myelination	10464	PIBF1	OMIM:617767
HP:0012448	Delayed myelination	221927	BRAT1	OMIM:614498
HP:0012448	Delayed myelination	91949	COG7	OMIM:608779
HP:0012448	Delayed myelination	6535	SLC6A8	OMIM:300352
HP:0012448	Delayed myelination	10617	STAMBP	OMIM:614261
HP:0012448	Delayed myelination	10466	COG5	ORPHA:263487
HP:0012448	Delayed myelination	2290	FOXG1	OMIM:613454
HP:0012448	Delayed myelination	85476	GFM1	OMIM:609060
HP:0012448	Delayed myelination	56945	MRPS22	OMIM:611719
HP:0012448	Delayed myelination	5631	PRPS1	ORPHA:423479
HP:0012448	Delayed myelination	1349	COX7B	OMIM:300887
HP:0012448	Delayed myelination	51741	WWOX	OMIM:616211
HP:0012448	Delayed myelination	2782	GNB1	ORPHA:488613
HP:0012448	Delayed myelination	2782	GNB1	OMIM:616973
HP:0012448	Delayed myelination	4552	MTRR	ORPHA:2169
HP:0012448	Delayed myelination	55904	KMT2E	OMIM:618512
HP:0012448	Delayed myelination	2033	EP300	ORPHA:353284
HP:0012448	Delayed myelination	10978	CLP1	OMIM:615803
HP:0012448	Delayed myelination	55650	PIGV	OMIM:239300
HP:0012448	Delayed myelination	3417	IDH1	ORPHA:99646
HP:0012448	Delayed myelination	87178	PNPT1	ORPHA:319514
HP:0012448	Delayed myelination	7337	UBE3A	ORPHA:98794
HP:0012448	Delayed myelination	4948	OCA2	ORPHA:98794
HP:0012448	Delayed myelination	3192	HNRNPU	OMIM:617391
HP:0012448	Delayed myelination	4125	MAN2B1	OMIM:248500
HP:0012448	Delayed myelination	55572	FOXRED1	OMIM:618241
HP:0012448	Delayed myelination	4915	NTRK2	OMIM:617830
HP:0012448	Delayed myelination	4915	NTRK2	OMIM:613886
HP:0012448	Delayed myelination	201163	FLCN	OMIM:610883
HP:0012448	Delayed myelination	1183	CLCN4	ORPHA:485350
HP:0012448	Delayed myelination	29968	PSAT1	ORPHA:284417
HP:0012448	Delayed myelination	191	AHCY	ORPHA:88618
HP:0012448	Delayed myelination	171023	ASXL1	ORPHA:97297
HP:0012448	Delayed myelination	5277	PIGA	OMIM:300868
HP:0012448	Delayed myelination	92949	ADAMTSL1	ORPHA:521445
HP:0012448	Delayed myelination	1641	DCX	ORPHA:2148
HP:0012448	Delayed myelination	57531	HACE1	OMIM:616756
HP:0012448	Delayed myelination	26227	PHGDH	ORPHA:79351
HP:0012448	Delayed myelination	2074	ERCC6	OMIM:214150
HP:0012448	Delayed myelination	7025	NR2F1	ORPHA:401777
HP:0012448	Delayed myelination	6905	TBCE	OMIM:241410
HP:0012448	Delayed myelination	6711	SPTBN1	OMIM:619475
HP:0012448	Delayed myelination	81689	ISCA1	OMIM:617613
HP:0012448	Delayed myelination	51091	SEPSECS	OMIM:613811
HP:0012448	Delayed myelination	79751	SLC25A22	OMIM:609304
HP:0012448	Delayed myelination	79751	SLC25A22	ORPHA:1934
HP:0012448	Delayed myelination	1528	CYB5A	ORPHA:621
HP:0012448	Delayed myelination	1727	CYB5R3	ORPHA:621
HP:0012448	Delayed myelination	57459	GATAD2B	ORPHA:363686
HP:0012448	Delayed myelination	23556	PIGN	ORPHA:280633
HP:0012448	Delayed myelination	6857	SYT1	ORPHA:522077
HP:0012448	Delayed myelination	5058	PAK1	OMIM:618158
HP:0012448	Delayed myelination	440138	ALG11	ORPHA:280071
HP:0012448	Delayed myelination	2232	FDXR	ORPHA:543470
HP:0012448	Delayed myelination	9373	PLAA	ORPHA:521426
HP:0012448	Delayed myelination	9373	PLAA	OMIM:617527
HP:0012448	Delayed myelination	64135	IFIH1	OMIM:615846
HP:0012448	Delayed myelination	84919	PPP1R15B	OMIM:616817
HP:0012448	Delayed myelination	84919	PPP1R15B	ORPHA:391408
HP:0012448	Delayed myelination	93587	TRMT10A	ORPHA:391408
HP:0012448	Delayed myelination	23314	SATB2	ORPHA:576283
HP:0012448	Delayed myelination	5373	PMM2	ORPHA:79318
HP:0012448	Delayed myelination	23162	MAPK8IP3	OMIM:618443
HP:0012448	Delayed myelination	440	ASNS	OMIM:615574
HP:0012448	Delayed myelination	1387	CREBBP	ORPHA:353277
HP:0012448	Delayed myelination	55005	RMND1	OMIM:614922
HP:0012448	Delayed myelination	8813	DPM1	ORPHA:79322
HP:0012448	Delayed myelination	1719	DHFR	OMIM:613839
HP:0012448	Delayed myelination	84153	RNASEH2C	OMIM:610329
HP:0012448	Delayed myelination	79087	ALG12	ORPHA:79324
HP:0012448	Delayed myelination	2639	GCDH	OMIM:231670
HP:0012448	Delayed myelination	6576	SLC25A1	OMIM:615182
HP:0012448	Delayed myelination	3658	IREB2	OMIM:618451
HP:0012448	Delayed myelination	51053	GMNN	OMIM:616835
HP:0012448	Delayed myelination	284111	SLC13A5	OMIM:615905
HP:0012448	Delayed myelination	6792	CDKL5	ORPHA:1934
HP:0012448	Delayed myelination	3736	KCNA1	ORPHA:1934
HP:0012448	Delayed myelination	9091	PIGQ	ORPHA:1934
HP:0012448	Delayed myelination	2902	GRIN1	ORPHA:1934
HP:0012448	Delayed myelination	150094	SIK1	ORPHA:1934
HP:0012448	Delayed myelination	8573	CASK	ORPHA:1934
HP:0012448	Delayed myelination	23312	DMXL2	ORPHA:1934
HP:0012448	Delayed myelination	2917	GRM7	ORPHA:1934
HP:0012448	Delayed myelination	11284	PNKP	ORPHA:1934
HP:0012448	Delayed myelination	6326	SCN2A	ORPHA:1934
HP:0012448	Delayed myelination	51227	PIGP	ORPHA:1934
HP:0012448	Delayed myelination	6324	SCN1B	ORPHA:1934
HP:0012449	Sacroiliac joint synovitis	5251	PHEX	ORPHA:89936
HP:0012443	Abnormality of brain morphology	8294	H4C9	OMIM:619951
HP:0012443	Abnormality of brain morphology	23426	GRIP1	OMIM:617667
HP:0012443	Abnormality of brain morphology	65082	VPS33A	ORPHA:505248
HP:0012443	Abnormality of brain morphology	4853	NOTCH2	OMIM:102500
HP:0012443	Abnormality of brain morphology	4853	NOTCH2	ORPHA:955
HP:0012443	Abnormality of brain morphology	5500	PPP1CB	ORPHA:2701
HP:0012443	Abnormality of brain morphology	3039	HBA1	ORPHA:163596
HP:0012443	Abnormality of brain morphology	3040	HBA2	ORPHA:163596
HP:0012443	Abnormality of brain morphology	5034	P4HB	OMIM:112240
HP:0012443	Abnormality of brain morphology	7547	ZIC3	OMIM:314390
HP:0012443	Abnormality of brain morphology	7547	ZIC3	OMIM:306955
HP:0012443	Abnormality of brain morphology	2683	B4GALT1	ORPHA:79332
HP:0012443	Abnormality of brain morphology	2683	B4GALT1	OMIM:607091
HP:0012443	Abnormality of brain morphology	8643	PTCH2	ORPHA:377
HP:0012443	Abnormality of brain morphology	51422	PRKAG2	OMIM:261740
HP:0012443	Abnormality of brain morphology	10312	TCIRG1	ORPHA:667
HP:0012443	Abnormality of brain morphology	10312	TCIRG1	OMIM:259700
HP:0012443	Abnormality of brain morphology	29887	SNX10	ORPHA:667
HP:0012443	Abnormality of brain morphology	8600	TNFSF11	ORPHA:667
HP:0012443	Abnormality of brain morphology	8600	TNFSF11	OMIM:259710
HP:0012443	Abnormality of brain morphology	1193	CLIC2	OMIM:300886
HP:0012443	Abnormality of brain morphology	9871	SEC24D	OMIM:616294
HP:0012443	Abnormality of brain morphology	8882	ZPR1	OMIM:619321
HP:0012443	Abnormality of brain morphology	56975	FAM20C	OMIM:259775
HP:0012443	Abnormality of brain morphology	10013	HDAC6	OMIM:300863
HP:0012443	Abnormality of brain morphology	10013	HDAC6	ORPHA:163966
HP:0012443	Abnormality of brain morphology	4157	MC1R	ORPHA:626
HP:0012443	Abnormality of brain morphology	4534	MTM1	OMIM:310400
HP:0012443	Abnormality of brain morphology	23387	SIK3	OMIM:618162
HP:0012443	Abnormality of brain morphology	55898	UNC45A	OMIM:619377
HP:0012443	Abnormality of brain morphology	80144	FRAS1	OMIM:219000
HP:0012443	Abnormality of brain morphology	3425	IDUA	OMIM:607014
HP:0012443	Abnormality of brain morphology	3425	IDUA	ORPHA:93473
HP:0012443	Abnormality of brain morphology	5063	PAK3	OMIM:300558
HP:0012443	Abnormality of brain morphology	3662	IRF4	ORPHA:3452
HP:0012443	Abnormality of brain morphology	51134	CEP83	OMIM:615862
HP:0012443	Abnormality of brain morphology	9927	MFN2	ORPHA:99947
HP:0012443	Abnormality of brain morphology	579	NKX3-2	OMIM:613330
HP:0012443	Abnormality of brain morphology	411	ARSB	OMIM:253200
HP:0012443	Abnormality of brain morphology	5062	PAK2	ORPHA:1571
HP:0012443	Abnormality of brain morphology	4758	NEU1	ORPHA:93400
HP:0012443	Abnormality of brain morphology	139285	AMER1	OMIM:300373
HP:0012443	Abnormality of brain morphology	2990	GUSB	OMIM:253220
HP:0012443	Abnormality of brain morphology	59341	TRPV4	ORPHA:2635
HP:0012443	Abnormality of brain morphology	9469	CHST3	OMIM:245600
HP:0012443	Abnormality of brain morphology	26229	B3GAT3	OMIM:245600
HP:0012443	Abnormality of brain morphology	1139	CHRNA7	ORPHA:199318
HP:0012443	Abnormality of brain morphology	6228	RPS23	OMIM:617412
HP:0012443	Abnormality of brain morphology	5932	RBBP8	OMIM:606744
HP:0012443	Abnormality of brain morphology	5932	RBBP8	ORPHA:808
HP:0012443	Abnormality of brain morphology	283489	CHAMP1	OMIM:616579
HP:0012443	Abnormality of brain morphology	10111	RAD50	OMIM:613078
HP:0012443	Abnormality of brain morphology	5813	PURA	ORPHA:438216
HP:0012443	Abnormality of brain morphology	6305	SBF1	OMIM:615284
HP:0012443	Abnormality of brain morphology	2904	GRIN2B	OMIM:616139
HP:0012443	Abnormality of brain morphology	2904	GRIN2B	OMIM:613970
HP:0012443	Abnormality of brain morphology	54916	TMEM260	OMIM:617478
HP:0012443	Abnormality of brain morphology	120	ADD3	OMIM:617008
HP:0012443	Abnormality of brain morphology	2334	AFF2	OMIM:309548
HP:0012443	Abnormality of brain morphology	3054	HCFC1	OMIM:309541
HP:0012443	Abnormality of brain morphology	3431	SP110	OMIM:235550
HP:0012443	Abnormality of brain morphology	3431	SP110	ORPHA:79124
HP:0012443	Abnormality of brain morphology	4613	MYCN	OMIM:164280
HP:0012443	Abnormality of brain morphology	4613	MYCN	ORPHA:391641
HP:0012443	Abnormality of brain morphology	51729	WBP11	OMIM:619227
HP:0012443	Abnormality of brain morphology	2707	GJB3	ORPHA:317
HP:0012443	Abnormality of brain morphology	2531	KDSR	ORPHA:317
HP:0012443	Abnormality of brain morphology	127534	GJB4	ORPHA:317
HP:0012443	Abnormality of brain morphology	8452	CUL3	OMIM:619239
HP:0012443	Abnormality of brain morphology	23112	TNRC6B	OMIM:619243
HP:0012443	Abnormality of brain morphology	8242	KDM5C	ORPHA:85279
HP:0012443	Abnormality of brain morphology	8242	KDM5C	OMIM:300534
HP:0012443	Abnormality of brain morphology	81615	TMEM163	OMIM:620243
HP:0012443	Abnormality of brain morphology	25886	POC1A	OMIM:614813
HP:0012443	Abnormality of brain morphology	128	ADH5	OMIM:619151
HP:0012443	Abnormality of brain morphology	26960	NBEA	OMIM:619157
HP:0012443	Abnormality of brain morphology	10093	ARPC4	OMIM:620141
HP:0012443	Abnormality of brain morphology	613	BCR	ORPHA:261330
HP:0012443	Abnormality of brain morphology	1399	CRKL	ORPHA:261330
HP:0012443	Abnormality of brain morphology	224	ALDH3A2	ORPHA:816
HP:0012443	Abnormality of brain morphology	3242	HPD	OMIM:140350
HP:0012443	Abnormality of brain morphology	338657	CENATAC	OMIM:620153
HP:0012443	Abnormality of brain morphology	25778	DSTYK	OMIM:270750
HP:0012443	Abnormality of brain morphology	1738	DLD	ORPHA:2394
HP:0012443	Abnormality of brain morphology	1738	DLD	OMIM:246900
HP:0012443	Abnormality of brain morphology	92579	G6PC3	OMIM:612541
HP:0012443	Abnormality of brain morphology	222663	SCUBE3	OMIM:619184
HP:0012443	Abnormality of brain morphology	63894	VIPAS39	OMIM:613404
HP:0012443	Abnormality of brain morphology	83879	CDCA7	OMIM:616910
HP:0012443	Abnormality of brain morphology	54084	TSPEAR	OMIM:620173
HP:0012443	Abnormality of brain morphology	91754	NEK9	ORPHA:64754
HP:0012443	Abnormality of brain morphology	3675	ITGA3	OMIM:614748
HP:0012443	Abnormality of brain morphology	79759	ZNF668	OMIM:620194
HP:0012443	Abnormality of brain morphology	388015	RTL1	ORPHA:96334
HP:0012443	Abnormality of brain morphology	8788	DLK1	ORPHA:96334
HP:0012443	Abnormality of brain morphology	55384	MEG3	ORPHA:96334
HP:0012443	Abnormality of brain morphology	415	ARSL	OMIM:302950
HP:0012443	Abnormality of brain morphology	81887	LAS1L	OMIM:309585
HP:0012443	Abnormality of brain morphology	79902	NUP85	ORPHA:808
HP:0012443	Abnormality of brain morphology	84126	ATRIP	ORPHA:808
HP:0012443	Abnormality of brain morphology	51567	TDP2	OMIM:616949
HP:0012443	Abnormality of brain morphology	9894	TELO2	OMIM:616954
HP:0012443	Abnormality of brain morphology	9837	GINS1	OMIM:617827
HP:0012443	Abnormality of brain morphology	79840	NHEJ1	ORPHA:169079
HP:0012443	Abnormality of brain morphology	134701	RIPPLY2	ORPHA:2311
HP:0012443	Abnormality of brain morphology	10683	DLL3	ORPHA:2311
HP:0012443	Abnormality of brain morphology	3955	LFNG	ORPHA:2311
HP:0012443	Abnormality of brain morphology	145873	MESP2	ORPHA:2311
HP:0012443	Abnormality of brain morphology	197131	UBR1	ORPHA:2315
HP:0012443	Abnormality of brain morphology	197131	UBR1	OMIM:243800
HP:0012443	Abnormality of brain morphology	55180	LINS1	OMIM:614340
HP:0012443	Abnormality of brain morphology	80152	CENPT	OMIM:618702
HP:0012443	Abnormality of brain morphology	6697	SPR	ORPHA:70594
HP:0012443	Abnormality of brain morphology	6697	SPR	OMIM:612716
HP:0012443	Abnormality of brain morphology	953	ENTPD1	OMIM:615683
HP:0012443	Abnormality of brain morphology	953	ENTPD1	ORPHA:401810
HP:0012443	Abnormality of brain morphology	84628	NTNG2	OMIM:618718
HP:0012443	Abnormality of brain morphology	84700	MYO18B	OMIM:616549
HP:0012443	Abnormality of brain morphology	2182	ACSL4	OMIM:300387
HP:0012443	Abnormality of brain morphology	8367	H4C5	OMIM:619950
HP:0012443	Abnormality of brain morphology	28960	DCPS	OMIM:616459
HP:0012443	Abnormality of brain morphology	10559	SLC35A1	OMIM:603585
HP:0012443	Abnormality of brain morphology	80153	EDC3	OMIM:616460
HP:0012443	Abnormality of brain morphology	55870	ASH1L	OMIM:617796
HP:0012443	Abnormality of brain morphology	25885	POLR1A	OMIM:616462
HP:0012443	Abnormality of brain morphology	23184	MESD	OMIM:618644
HP:0012443	Abnormality of brain morphology	55109	AGGF1	ORPHA:90308
HP:0012443	Abnormality of brain morphology	1501	CTNND2	ORPHA:281
HP:0012443	Abnormality of brain morphology	9037	SEMA5A	ORPHA:281
HP:0012443	Abnormality of brain morphology	26057	ANKRD17	OMIM:619504
HP:0012443	Abnormality of brain morphology	57167	SALL4	ORPHA:233
HP:0012443	Abnormality of brain morphology	9935	MAFB	ORPHA:233
HP:0012443	Abnormality of brain morphology	1123	CHN1	ORPHA:233
HP:0012443	Abnormality of brain morphology	286	ANK1	ORPHA:251066
HP:0012443	Abnormality of brain morphology	5860	QDPR	ORPHA:226
HP:0012443	Abnormality of brain morphology	5860	QDPR	OMIM:261630
HP:0012443	Abnormality of brain morphology	7385	UQCRC2	OMIM:615160
HP:0012443	Abnormality of brain morphology	7750	ZMYM2	OMIM:619522
HP:0012443	Abnormality of brain morphology	9922	IQSEC1	OMIM:618687
HP:0012443	Abnormality of brain morphology	10516	FBLN5	ORPHA:90348
HP:0012443	Abnormality of brain morphology	10516	FBLN5	ORPHA:90349
HP:0012443	Abnormality of brain morphology	10516	FBLN5	OMIM:219100
HP:0012443	Abnormality of brain morphology	4052	LTBP1	ORPHA:90349
HP:0012443	Abnormality of brain morphology	30008	EFEMP2	ORPHA:90349
HP:0012443	Abnormality of brain morphology	30008	EFEMP2	OMIM:614437
HP:0012443	Abnormality of brain morphology	1173	AP2M1	ORPHA:1942
HP:0012443	Abnormality of brain morphology	6529	SLC6A1	ORPHA:1942
HP:0012443	Abnormality of brain morphology	5587	PRKD1	OMIM:617364
HP:0012443	Abnormality of brain morphology	54808	DYM	ORPHA:239
HP:0012443	Abnormality of brain morphology	54808	DYM	OMIM:223800
HP:0012443	Abnormality of brain morphology	54808	DYM	OMIM:607326
HP:0012443	Abnormality of brain morphology	498	ATP5F1A	OMIM:616045
HP:0012443	Abnormality of brain morphology	23314	SATB2	ORPHA:251028
HP:0012443	Abnormality of brain morphology	23314	SATB2	ORPHA:251019
HP:0012443	Abnormality of brain morphology	23314	SATB2	OMIM:612313
HP:0012443	Abnormality of brain morphology	92344	GORAB	OMIM:231070
HP:0012443	Abnormality of brain morphology	6898	TAT	ORPHA:28378
HP:0012443	Abnormality of brain morphology	80324	PUS1	OMIM:600462
HP:0012443	Abnormality of brain morphology	80324	PUS1	ORPHA:2598
HP:0012443	Abnormality of brain morphology	9496	TBX4	ORPHA:261279
HP:0012443	Abnormality of brain morphology	9451	EIF2AK3	OMIM:226980
HP:0012443	Abnormality of brain morphology	9451	EIF2AK3	ORPHA:1667
HP:0012443	Abnormality of brain morphology	5000	ORC4	OMIM:613800
HP:0012443	Abnormality of brain morphology	5000	ORC4	ORPHA:2554
HP:0012443	Abnormality of brain morphology	81620	CDT1	OMIM:613804
HP:0012443	Abnormality of brain morphology	81620	CDT1	ORPHA:2554
HP:0012443	Abnormality of brain morphology	23594	ORC6	OMIM:613803
HP:0012443	Abnormality of brain morphology	23594	ORC6	ORPHA:2554
HP:0012443	Abnormality of brain morphology	990	CDC6	OMIM:613805
HP:0012443	Abnormality of brain morphology	990	CDC6	ORPHA:2554
HP:0012443	Abnormality of brain morphology	10847	SRCAP	OMIM:619595
HP:0012443	Abnormality of brain morphology	55526	DHTKD1	OMIM:204750
HP:0012443	Abnormality of brain morphology	90416	CCDC32	OMIM:619123
HP:0012443	Abnormality of brain morphology	3739	KCNA4	OMIM:618284
HP:0012443	Abnormality of brain morphology	4683	NBN	ORPHA:647
HP:0012443	Abnormality of brain morphology	4683	NBN	OMIM:251260
HP:0012443	Abnormality of brain morphology	8665	EIF3F	OMIM:618295
HP:0012443	Abnormality of brain morphology	341640	FREM2	ORPHA:2052
HP:0012443	Abnormality of brain morphology	55325	UFSP2	OMIM:620028
HP:0012443	Abnormality of brain morphology	183	AGT	OMIM:267430
HP:0012443	Abnormality of brain morphology	5972	REN	OMIM:267430
HP:0012443	Abnormality of brain morphology	185	AGTR1	OMIM:267430
HP:0012443	Abnormality of brain morphology	1636	ACE	OMIM:267430
HP:0012443	Abnormality of brain morphology	5689	PSMB1	OMIM:620038
HP:0012443	Abnormality of brain morphology	7298	TYMS	OMIM:620040
HP:0012443	Abnormality of brain morphology	4212	MEIS2	OMIM:600987
HP:0012443	Abnormality of brain morphology	4212	MEIS2	ORPHA:261190
HP:0012443	Abnormality of brain morphology	26053	AUTS2	ORPHA:352490
HP:0012443	Abnormality of brain morphology	26053	AUTS2	OMIM:615834
HP:0012443	Abnormality of brain morphology	1802	DPH2	OMIM:620062
HP:0012443	Abnormality of brain morphology	55027	HEATR3	OMIM:620072
HP:0012443	Abnormality of brain morphology	5700	PSMC1	OMIM:620071
HP:0012443	Abnormality of brain morphology	3187	HNRNPH1	OMIM:620083
HP:0012443	Abnormality of brain morphology	92154	MTSS2	OMIM:620086
HP:0012443	Abnormality of brain morphology	197322	ACSF3	ORPHA:289504
HP:0012443	Abnormality of brain morphology	2702	GJA5	OMIM:612474
HP:0012443	Abnormality of brain morphology	2703	GJA8	OMIM:612474
HP:0012443	Abnormality of brain morphology	6307	MSMO1	OMIM:616834
HP:0012443	Abnormality of brain morphology	1828	DSG1	OMIM:615508
HP:0012443	Abnormality of brain morphology	3720	JARID2	OMIM:620098
HP:0012443	Abnormality of brain morphology	55784	MCTP2	ORPHA:1596
HP:0012443	Abnormality of brain morphology	6301	SARS1	OMIM:617709
HP:0012443	Abnormality of brain morphology	26224	FBXL3	OMIM:606220
HP:0012443	Abnormality of brain morphology	23443	SLC35A3	OMIM:615553
HP:0012443	Abnormality of brain morphology	6591	SNAI2	ORPHA:2884
HP:0012443	Abnormality of brain morphology	3815	KIT	ORPHA:2884
HP:0012443	Abnormality of brain morphology	3756	KCNH1	ORPHA:420561
HP:0012443	Abnormality of brain morphology	9320	TRIP12	OMIM:617752
HP:0012443	Abnormality of brain morphology	1663	DDX11	OMIM:613398
HP:0012443	Abnormality of brain morphology	23498	HAAO	OMIM:617660
HP:0012443	Abnormality of brain morphology	8942	KYNU	OMIM:617661
HP:0012443	Abnormality of brain morphology	3149	HMGB3	OMIM:300915
HP:0012443	Abnormality of brain morphology	288	ANK3	OMIM:615493
HP:0012443	Abnormality of brain morphology	7994	KAT6A	ORPHA:457193
HP:0012443	Abnormality of brain morphology	7994	KAT6A	OMIM:616268
HP:0012443	Abnormality of brain morphology	788	SLC25A20	ORPHA:159
HP:0012443	Abnormality of brain morphology	4285	MIPEP	OMIM:617228
HP:0012443	Abnormality of brain morphology	641	BLM	OMIM:210900
HP:0012443	Abnormality of brain morphology	84295	PHF6	ORPHA:127
HP:0012443	Abnormality of brain morphology	84295	PHF6	OMIM:301900
HP:0012443	Abnormality of brain morphology	6135	RPL11	ORPHA:124
HP:0012443	Abnormality of brain morphology	6138	RPL15	ORPHA:124
HP:0012443	Abnormality of brain morphology	6229	RPS24	ORPHA:124
HP:0012443	Abnormality of brain morphology	6125	RPL5	ORPHA:124
HP:0012443	Abnormality of brain morphology	6204	RPS10	ORPHA:124
HP:0012443	Abnormality of brain morphology	6224	RPS20	ORPHA:124
HP:0012443	Abnormality of brain morphology	6165	RPL35A	ORPHA:124
HP:0012443	Abnormality of brain morphology	2623	GATA1	ORPHA:124
HP:0012443	Abnormality of brain morphology	6223	RPS19	ORPHA:124
HP:0012443	Abnormality of brain morphology	6223	RPS19	OMIM:105650
HP:0012443	Abnormality of brain morphology	6232	RPS27	ORPHA:124
HP:0012443	Abnormality of brain morphology	6231	RPS26	ORPHA:124
HP:0012443	Abnormality of brain morphology	11224	RPL35	ORPHA:124
HP:0012443	Abnormality of brain morphology	6160	RPL31	ORPHA:124
HP:0012443	Abnormality of brain morphology	6218	RPS17	ORPHA:124
HP:0012443	Abnormality of brain morphology	6201	RPS7	ORPHA:124
HP:0012443	Abnormality of brain morphology	6155	RPL27	ORPHA:124
HP:0012443	Abnormality of brain morphology	6154	RPL26	ORPHA:124
HP:0012443	Abnormality of brain morphology	6210	RPS15A	ORPHA:124
HP:0012443	Abnormality of brain morphology	90121	TSR2	ORPHA:124
HP:0012443	Abnormality of brain morphology	6141	RPL18	ORPHA:124
HP:0012443	Abnormality of brain morphology	6235	RPS29	ORPHA:124
HP:0012443	Abnormality of brain morphology	6234	RPS28	ORPHA:124
HP:0012443	Abnormality of brain morphology	55656	INTS8	OMIM:618572
HP:0012443	Abnormality of brain morphology	51574	LARP7	OMIM:615071
HP:0012443	Abnormality of brain morphology	84894	LINGO1	OMIM:618103
HP:0012443	Abnormality of brain morphology	8473	OGT	OMIM:300997
HP:0012443	Abnormality of brain morphology	6418	SET	OMIM:618106
HP:0012443	Abnormality of brain morphology	1120	CHKB	OMIM:602541
HP:0012443	Abnormality of brain morphology	4041	LRP5	OMIM:259770
HP:0012443	Abnormality of brain morphology	4041	LRP5	ORPHA:891
HP:0012443	Abnormality of brain morphology	51132	RLIM	OMIM:300978
HP:0012443	Abnormality of brain morphology	4998	ORC1	OMIM:224690
HP:0012443	Abnormality of brain morphology	4998	ORC1	ORPHA:2554
HP:0012443	Abnormality of brain morphology	27341	RRP7A	OMIM:619453
HP:0012443	Abnormality of brain morphology	5077	PAX3	OMIM:148820
HP:0012443	Abnormality of brain morphology	5077	PAX3	ORPHA:896
HP:0012443	Abnormality of brain morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012443	Abnormality of brain morphology	55651	NHP2	OMIM:224230
HP:0012443	Abnormality of brain morphology	55505	NOP10	OMIM:224230
HP:0012443	Abnormality of brain morphology	3643	INSR	ORPHA:508
HP:0012443	Abnormality of brain morphology	60676	PAPPA2	OMIM:619489
HP:0012443	Abnormality of brain morphology	407975	MIR17HG	ORPHA:391646
HP:0012443	Abnormality of brain morphology	5805	PTS	OMIM:261640
HP:0012443	Abnormality of brain morphology	5557	PRIM1	OMIM:620005
HP:0012443	Abnormality of brain morphology	64432	MRPS25	OMIM:619025
HP:0012443	Abnormality of brain morphology	55294	FBXW7	OMIM:620012
HP:0012443	Abnormality of brain morphology	123263	MTFMT	OMIM:614947
HP:0012443	Abnormality of brain morphology	1763	DNA2	OMIM:615807
HP:0012443	Abnormality of brain morphology	80204	FBXO11	OMIM:618089
HP:0012443	Abnormality of brain morphology	23325	WASHC4	OMIM:615817
HP:0012443	Abnormality of brain morphology	1009	CDH11	ORPHA:1299
HP:0012443	Abnormality of brain morphology	51067	YARS2	ORPHA:2598
HP:0012443	Abnormality of brain morphology	5648	MASP1	OMIM:257920
HP:0012443	Abnormality of brain morphology	26115	TANC2	OMIM:618906
HP:0012443	Abnormality of brain morphology	54101	RIPK4	ORPHA:1234
HP:0012443	Abnormality of brain morphology	3176	HNMT	OMIM:616739
HP:0012443	Abnormality of brain morphology	3759	KCNJ2	OMIM:170390
HP:0012443	Abnormality of brain morphology	84172	POLR1B	OMIM:618939
HP:0012443	Abnormality of brain morphology	51520	LARS1	OMIM:615438
HP:0012443	Abnormality of brain morphology	55617	TASP1	OMIM:618950
HP:0012443	Abnormality of brain morphology	60528	ELAC2	OMIM:615440
HP:0012443	Abnormality of brain morphology	28957	MRPS28	OMIM:618958
HP:0012443	Abnormality of brain morphology	7991	TUSC3	OMIM:611093
HP:0012443	Abnormality of brain morphology	1804	DPP6	ORPHA:2514
HP:0012443	Abnormality of brain morphology	1804	DPP6	OMIM:616311
HP:0012443	Abnormality of brain morphology	1146	CHRNG	ORPHA:2990
HP:0012443	Abnormality of brain morphology	55367	PIDD1	OMIM:619827
HP:0012443	Abnormality of brain morphology	3021	H3-3B	OMIM:619721
HP:0012443	Abnormality of brain morphology	4056	LTC4S	OMIM:614037
HP:0012443	Abnormality of brain morphology	72	ACTG2	ORPHA:2604
HP:0012443	Abnormality of brain morphology	472	ATM	OMIM:208900
HP:0012443	Abnormality of brain morphology	3781	KCNN2	OMIM:619725
HP:0012443	Abnormality of brain morphology	2590	GALNT2	OMIM:618885
HP:0012443	Abnormality of brain morphology	51319	RSRC1	OMIM:618402
HP:0012443	Abnormality of brain morphology	23761	PISD	OMIM:618889
HP:0012443	Abnormality of brain morphology	8879	SGPL1	OMIM:617575
HP:0012443	Abnormality of brain morphology	8364	H4C3	OMIM:619758
HP:0012443	Abnormality of brain morphology	145258	GSC	OMIM:602471
HP:0012443	Abnormality of brain morphology	9993	DGCR2	OMIM:192430
HP:0012443	Abnormality of brain morphology	8220	ESS2	OMIM:192430
HP:0012443	Abnormality of brain morphology	8214	DGCR6	OMIM:192430
HP:0012443	Abnormality of brain morphology	54487	DGCR8	OMIM:192430
HP:0012443	Abnormality of brain morphology	6878	TAF6	OMIM:617126
HP:0012443	Abnormality of brain morphology	6650	CAPN15	OMIM:619318
HP:0012443	Abnormality of brain morphology	2530	FUT8	OMIM:618005
HP:0012443	Abnormality of brain morphology	8091	HMGA2	ORPHA:94063
HP:0012443	Abnormality of brain morphology	23592	LEMD3	ORPHA:94063
HP:0012443	Abnormality of brain morphology	26276	VPS33B	OMIM:208085
HP:0012443	Abnormality of brain morphology	54681	P4HTM	OMIM:618493
HP:0012443	Abnormality of brain morphology	37	ACADVL	OMIM:201475
HP:0012443	Abnormality of brain morphology	5281	PIGF	OMIM:619356
HP:0012443	Abnormality of brain morphology	10681	GNB5	OMIM:617182
HP:0012443	Abnormality of brain morphology	627	BDNF	ORPHA:893
HP:0012443	Abnormality of brain morphology	23554	TSPAN12	ORPHA:891
HP:0012443	Abnormality of brain morphology	79797	ZNF408	ORPHA:891
HP:0012443	Abnormality of brain morphology	8322	FZD4	ORPHA:891
HP:0012443	Abnormality of brain morphology	11011	TLK2	OMIM:618050
HP:0012443	Abnormality of brain morphology	8443	GNPAT	OMIM:222765
HP:0012443	Abnormality of brain morphology	36	ACADSB	OMIM:610006
HP:0012443	Abnormality of brain morphology	8546	AP3B1	OMIM:608233
HP:0012443	Abnormality of brain morphology	51199	NIN	OMIM:614851
HP:0012443	Abnormality of brain morphology	51199	NIN	ORPHA:319675
HP:0012443	Abnormality of brain morphology	197257	LDHD	OMIM:245450
HP:0012443	Abnormality of brain morphology	375748	ERCC6L2	OMIM:615715
HP:0012443	Abnormality of brain morphology	10280	SIGMAR1	ORPHA:300605
HP:0012443	Abnormality of brain morphology	10558	SPTLC1	ORPHA:300605
HP:0012443	Abnormality of brain morphology	50628	GEMIN4	OMIM:617913
HP:0012443	Abnormality of brain morphology	867	CBL	OMIM:613563
HP:0012443	Abnormality of brain morphology	10157	AASS	ORPHA:2203
HP:0012443	Abnormality of brain morphology	5429	POLH	OMIM:278750
HP:0012443	Abnormality of brain morphology	20	ABCA2	OMIM:618808
HP:0012443	Abnormality of brain morphology	2584	GALK1	ORPHA:79237
HP:0012443	Abnormality of brain morphology	54870	QRICH1	OMIM:617982
HP:0012443	Abnormality of brain morphology	6911	TBX6	ORPHA:1797
HP:0012443	Abnormality of brain morphology	23397	NCAPH	OMIM:617985
HP:0012443	Abnormality of brain morphology	158326	FREM1	OMIM:614485
HP:0012443	Abnormality of brain morphology	23133	PHF8	OMIM:300263
HP:0012443	Abnormality of brain morphology	51733	UPB1	OMIM:613161
HP:0012443	Abnormality of brain morphology	23001	WDFY3	OMIM:617520
HP:0012443	Abnormality of brain morphology	35	ACADS	ORPHA:26792
HP:0012443	Abnormality of brain morphology	91452	ACBD5	OMIM:618863
HP:0012443	Abnormality of brain morphology	51660	MPC1	OMIM:614741
HP:0012443	Abnormality of brain morphology	4247	MGAT2	ORPHA:79329
HP:0012443	Abnormality of brain morphology	8318	CDC45	OMIM:617063
HP:0012443	Abnormality of brain morphology	54862	CC2D1A	OMIM:608443
HP:0012443	Abnormality of brain morphology	63908	NAPB	OMIM:620033
HP:0012443	Abnormality of brain morphology	203190	LGI3	OMIM:620007
HP:0012443	Abnormality of brain morphology	51294	PCDH12	OMIM:251280
HP:0012443	Abnormality of brain morphology	3913	LAMB2	OMIM:609049
HP:0012443	Abnormality of brain morphology	6909	TBX2	OMIM:618223
HP:0012443	Abnormality of brain morphology	27125	AFF4	ORPHA:444077
HP:0012443	Abnormality of brain morphology	55315	SLC29A3	OMIM:602782
HP:0012443	Abnormality of brain morphology	134218	DNAJC21	ORPHA:811
HP:0012443	Abnormality of brain morphology	79631	EFL1	ORPHA:811
HP:0012443	Abnormality of brain morphology	51119	SBDS	ORPHA:811
HP:0012443	Abnormality of brain morphology	6729	SRP54	ORPHA:811
HP:0012443	Abnormality of brain morphology	6777	STAT5B	OMIM:245590
HP:0012443	Abnormality of brain morphology	9581	PREPL	OMIM:616224
HP:0012443	Abnormality of brain morphology	5308	PITX2	OMIM:180500
HP:0012443	Abnormality of brain morphology	3481	IGF2	OMIM:180860
HP:0012443	Abnormality of brain morphology	157680	VPS13B	OMIM:216550
HP:0012443	Abnormality of brain morphology	5718	PSMD12	ORPHA:529962
HP:0012443	Abnormality of brain morphology	2186	BPTF	ORPHA:529962
HP:0012443	Abnormality of brain morphology	1028	CDKN1C	OMIM:614732
HP:0012443	Abnormality of brain morphology	9056	SLC7A7	ORPHA:470
HP:0012443	Abnormality of brain morphology	2887	GRB10	ORPHA:96182
HP:0012443	Abnormality of brain morphology	2317	FLNB	ORPHA:1263
HP:0012443	Abnormality of brain morphology	695	BTK	OMIM:307200
HP:0012443	Abnormality of brain morphology	5144	PDE4D	ORPHA:280651
HP:0012443	Abnormality of brain morphology	51053	GMNN	OMIM:616835
HP:0012443	Abnormality of brain morphology	157570	ESCO2	OMIM:216100
HP:0012443	Abnormality of brain morphology	29926	GMPPA	ORPHA:869
HP:0012443	Abnormality of brain morphology	8086	AAAS	ORPHA:869
HP:0012443	Abnormality of brain morphology	60401	EDA2R	ORPHA:181
HP:0012443	Abnormality of brain morphology	1896	EDA	ORPHA:181
HP:0012443	Abnormality of brain morphology	4509	MT-ATP8	ORPHA:480
HP:0012443	Abnormality of brain morphology	340719	NANOS1	ORPHA:399808
HP:0012443	Abnormality of brain morphology	340719	NANOS1	ORPHA:399805
HP:0012443	Abnormality of brain morphology	2492	FSHR	ORPHA:64739
HP:0012443	Abnormality of brain morphology	2492	FSHR	ORPHA:243
HP:0012443	Abnormality of brain morphology	2492	FSHR	OMIM:233300
HP:0012443	Abnormality of brain morphology	3973	LHCGR	OMIM:238320
HP:0012443	Abnormality of brain morphology	171568	POLR3H	ORPHA:243
HP:0012443	Abnormality of brain morphology	9210	BMP15	ORPHA:243
HP:0012443	Abnormality of brain morphology	57122	NUP107	ORPHA:243
HP:0012443	Abnormality of brain morphology	2099	ESR1	ORPHA:785
HP:0012443	Abnormality of brain morphology	23395	LARS2	OMIM:615300
HP:0012443	Abnormality of brain morphology	56154	TEX15	ORPHA:399805
HP:0012443	Abnormality of brain morphology	6875	TAF4B	ORPHA:399805
HP:0012443	Abnormality of brain morphology	56155	TEX14	ORPHA:399805
HP:0012443	Abnormality of brain morphology	254528	MEIOB	ORPHA:399805
HP:0012443	Abnormality of brain morphology	91057	CCDC34	ORPHA:399805
HP:0012443	Abnormality of brain morphology	317719	KLHL10	ORPHA:399805
HP:0012443	Abnormality of brain morphology	56159	TEX11	ORPHA:399805
HP:0012443	Abnormality of brain morphology	1080	CFTR	ORPHA:399805
HP:0012443	Abnormality of brain morphology	122402	TDRD9	ORPHA:399805
HP:0012443	Abnormality of brain morphology	154197	PNLDC1	ORPHA:399805
HP:0012443	Abnormality of brain morphology	93426	SYCE1	ORPHA:399805
HP:0012443	Abnormality of brain morphology	50511	SYCP3	ORPHA:399805
HP:0012443	Abnormality of brain morphology	50846	DHH	ORPHA:168563
HP:0012443	Abnormality of brain morphology	3248	HPGD	ORPHA:2796
HP:0012443	Abnormality of brain morphology	6578	SLCO2A1	ORPHA:2796
HP:0012443	Abnormality of brain morphology	3767	KCNJ11	ORPHA:79644
HP:0012443	Abnormality of brain morphology	3479	IGF1	OMIM:608747
HP:0012443	Abnormality of brain morphology	551	AVP	OMIM:125700
HP:0012443	Abnormality of brain morphology	8626	TP63	OMIM:604292
HP:0012443	Abnormality of brain morphology	5618	PRLR	OMIM:615555
HP:0012443	Abnormality of brain morphology	8567	MADD	OMIM:619004
HP:0012443	Abnormality of brain morphology	10749	KIF1C	ORPHA:397946
HP:0012443	Abnormality of brain morphology	10749	KIF1C	OMIM:611302
HP:0012443	Abnormality of brain morphology	4287	ATXN3	OMIM:109150
HP:0012443	Abnormality of brain morphology	4287	ATXN3	ORPHA:276238
HP:0012443	Abnormality of brain morphology	4287	ATXN3	ORPHA:276244
HP:0012443	Abnormality of brain morphology	4287	ATXN3	ORPHA:276241
HP:0012443	Abnormality of brain morphology	23646	PLD3	OMIM:617770
HP:0012443	Abnormality of brain morphology	55703	POLR3B	OMIM:614381
HP:0012443	Abnormality of brain morphology	55703	POLR3B	OMIM:619742
HP:0012443	Abnormality of brain morphology	55703	POLR3B	OMIM:607694
HP:0012443	Abnormality of brain morphology	26235	FBXL4	OMIM:615471
HP:0012443	Abnormality of brain morphology	4099	MAG	OMIM:616680
HP:0012443	Abnormality of brain morphology	51399	TRAPPC4	OMIM:618741
HP:0012443	Abnormality of brain morphology	55823	VPS11	OMIM:616683
HP:0012443	Abnormality of brain morphology	55823	VPS11	ORPHA:466934
HP:0012443	Abnormality of brain morphology	51569	UFM1	OMIM:617899
HP:0012443	Abnormality of brain morphology	23446	SLC44A1	OMIM:618868
HP:0012443	Abnormality of brain morphology	2895	GRID2	OMIM:616204
HP:0012443	Abnormality of brain morphology	6659	SOX4	OMIM:618506
HP:0012443	Abnormality of brain morphology	201595	STT3B	OMIM:615597
HP:0012443	Abnormality of brain morphology	201595	STT3B	ORPHA:370924
HP:0012443	Abnormality of brain morphology	60684	TRAPPC11	OMIM:615356
HP:0012443	Abnormality of brain morphology	100996717	NOTCH2NLC	OMIM:618866
HP:0012443	Abnormality of brain morphology	81570	CLPB	OMIM:619835
HP:0012443	Abnormality of brain morphology	81570	CLPB	OMIM:616271
HP:0012443	Abnormality of brain morphology	81570	CLPB	ORPHA:445038
HP:0012443	Abnormality of brain morphology	1786	DNMT1	ORPHA:314404
HP:0012443	Abnormality of brain morphology	1786	DNMT1	OMIM:604121
HP:0012443	Abnormality of brain morphology	10159	ATP6AP2	ORPHA:93952
HP:0012443	Abnormality of brain morphology	10159	ATP6AP2	OMIM:300423
HP:0012443	Abnormality of brain morphology	5521	PPP2R2B	OMIM:604326
HP:0012443	Abnormality of brain morphology	5521	PPP2R2B	ORPHA:98762
HP:0012443	Abnormality of brain morphology	6687	SPG7	ORPHA:99013
HP:0012443	Abnormality of brain morphology	6687	SPG7	OMIM:607259
HP:0012443	Abnormality of brain morphology	4125	MAN2B1	ORPHA:309282
HP:0012443	Abnormality of brain morphology	4125	MAN2B1	ORPHA:309288
HP:0012443	Abnormality of brain morphology	4125	MAN2B1	OMIM:248500
HP:0012443	Abnormality of brain morphology	3074	HEXB	ORPHA:309162
HP:0012443	Abnormality of brain morphology	10908	PNPLA6	ORPHA:139480
HP:0012443	Abnormality of brain morphology	10908	PNPLA6	OMIM:215470
HP:0012443	Abnormality of brain morphology	10908	PNPLA6	OMIM:612020
HP:0012443	Abnormality of brain morphology	65993	MRPS34	OMIM:617664
HP:0012443	Abnormality of brain morphology	10300	KATNB1	OMIM:616212
HP:0012443	Abnormality of brain morphology	10300	KATNB1	ORPHA:89844
HP:0012443	Abnormality of brain morphology	8722	CTSF	OMIM:615362
HP:0012443	Abnormality of brain morphology	10528	NOP56	OMIM:614153
HP:0012443	Abnormality of brain morphology	56997	COQ8A	ORPHA:139485
HP:0012443	Abnormality of brain morphology	56997	COQ8A	OMIM:612016
HP:0012443	Abnormality of brain morphology	10026	PIGK	OMIM:618879
HP:0012443	Abnormality of brain morphology	477	ATP1A2	OMIM:619605
HP:0012443	Abnormality of brain morphology	477	ATP1A2	OMIM:602481
HP:0012443	Abnormality of brain morphology	477	ATP1A2	ORPHA:569
HP:0012443	Abnormality of brain morphology	478	ATP1A3	OMIM:619606
HP:0012443	Abnormality of brain morphology	478	ATP1A3	ORPHA:71517
HP:0012443	Abnormality of brain morphology	10501	SEMA6B	OMIM:618876
HP:0012443	Abnormality of brain morphology	84520	GON7	OMIM:619603
HP:0012443	Abnormality of brain morphology	55768	NGLY1	ORPHA:404454
HP:0012443	Abnormality of brain morphology	79693	YRDC	OMIM:619609
HP:0012443	Abnormality of brain morphology	146057	TTBK2	OMIM:604432
HP:0012443	Abnormality of brain morphology	219285	SAMD9L	OMIM:159550
HP:0012443	Abnormality of brain morphology	219285	SAMD9L	ORPHA:2585
HP:0012443	Abnormality of brain morphology	219285	SAMD9L	OMIM:619806
HP:0012443	Abnormality of brain morphology	535	ATP6V0A1	OMIM:619971
HP:0012443	Abnormality of brain morphology	7345	UCHL1	OMIM:615491
HP:0012443	Abnormality of brain morphology	7343	UBTF	OMIM:617672
HP:0012443	Abnormality of brain morphology	816	CAMK2B	OMIM:617799
HP:0012443	Abnormality of brain morphology	3064	HTT	OMIM:617435
HP:0012443	Abnormality of brain morphology	3064	HTT	OMIM:143100
HP:0012443	Abnormality of brain morphology	3064	HTT	ORPHA:248111
HP:0012443	Abnormality of brain morphology	9326	ZNHIT3	ORPHA:2836
HP:0012443	Abnormality of brain morphology	9326	ZNHIT3	OMIM:260565
HP:0012443	Abnormality of brain morphology	547	KIF1A	ORPHA:2836
HP:0012443	Abnormality of brain morphology	547	KIF1A	OMIM:610357
HP:0012443	Abnormality of brain morphology	547	KIF1A	OMIM:614255
HP:0012443	Abnormality of brain morphology	8560	DEGS1	OMIM:618404
HP:0012443	Abnormality of brain morphology	10939	AFG3L2	ORPHA:313772
HP:0012443	Abnormality of brain morphology	10939	AFG3L2	OMIM:610246
HP:0012443	Abnormality of brain morphology	10939	AFG3L2	OMIM:614487
HP:0012443	Abnormality of brain morphology	1130	LYST	ORPHA:167
HP:0012443	Abnormality of brain morphology	343641	TGM6	ORPHA:276193
HP:0012443	Abnormality of brain morphology	343641	TGM6	OMIM:613908
HP:0012443	Abnormality of brain morphology	10715	CERS1	OMIM:616230
HP:0012443	Abnormality of brain morphology	84504	NKX6-2	OMIM:617560
HP:0012443	Abnormality of brain morphology	84504	NKX6-2	ORPHA:527497
HP:0012443	Abnormality of brain morphology	10935	PRDX3	OMIM:619862
HP:0012443	Abnormality of brain morphology	2744	GLS	OMIM:618412
HP:0012443	Abnormality of brain morphology	6712	SPTBN2	OMIM:615386
HP:0012443	Abnormality of brain morphology	6712	SPTBN2	OMIM:600224
HP:0012443	Abnormality of brain morphology	6712	SPTBN2	ORPHA:98766
HP:0012443	Abnormality of brain morphology	6712	SPTBN2	ORPHA:352403
HP:0012443	Abnormality of brain morphology	57231	SNX14	OMIM:616354
HP:0012443	Abnormality of brain morphology	83636	C19orf12	OMIM:614298
HP:0012443	Abnormality of brain morphology	833	CARS1	OMIM:618891
HP:0012443	Abnormality of brain morphology	54872	PIGG	ORPHA:488635
HP:0012443	Abnormality of brain morphology	57178	ZMIZ1	OMIM:618659
HP:0012443	Abnormality of brain morphology	246243	RNASEH1	OMIM:616479
HP:0012443	Abnormality of brain morphology	51761	ATP8A2	OMIM:615268
HP:0012443	Abnormality of brain morphology	54840	APTX	OMIM:208920
HP:0012443	Abnormality of brain morphology	79731	NARS2	OMIM:616239
HP:0012443	Abnormality of brain morphology	6905	TBCE	OMIM:617207
HP:0012443	Abnormality of brain morphology	6905	TBCE	ORPHA:496756
HP:0012443	Abnormality of brain morphology	950	SCARB2	OMIM:254900
HP:0012443	Abnormality of brain morphology	5373	PMM2	OMIM:212065
HP:0012443	Abnormality of brain morphology	253738	EBF3	OMIM:617330
HP:0012443	Abnormality of brain morphology	1186	CLCN7	OMIM:618541
HP:0012443	Abnormality of brain morphology	2911	GRM1	OMIM:617691
HP:0012443	Abnormality of brain morphology	2911	GRM1	OMIM:614831
HP:0012443	Abnormality of brain morphology	55621	TRMT1	OMIM:618302
HP:0012443	Abnormality of brain morphology	51604	PIGT	OMIM:615398
HP:0012443	Abnormality of brain morphology	51604	PIGT	ORPHA:369837
HP:0012443	Abnormality of brain morphology	55280	CWF19L1	OMIM:616127
HP:0012443	Abnormality of brain morphology	54902	TTC19	OMIM:615157
HP:0012443	Abnormality of brain morphology	3098	HK1	OMIM:618547
HP:0012443	Abnormality of brain morphology	8021	NUP214	OMIM:618426
HP:0012443	Abnormality of brain morphology	4191	MDH2	OMIM:617339
HP:0012443	Abnormality of brain morphology	150468	CKAP2L	OMIM:272440
HP:0012443	Abnormality of brain morphology	285362	SUMF1	OMIM:272200
HP:0012443	Abnormality of brain morphology	56052	ALG1	ORPHA:79327
HP:0012443	Abnormality of brain morphology	79796	ALG9	ORPHA:79328
HP:0012443	Abnormality of brain morphology	79796	ALG9	OMIM:608776
HP:0012443	Abnormality of brain morphology	3766	KCNJ10	ORPHA:199343
HP:0012443	Abnormality of brain morphology	3766	KCNJ10	OMIM:612780
HP:0012443	Abnormality of brain morphology	9533	POLR1C	OMIM:616494
HP:0012443	Abnormality of brain morphology	54828	BCAS3	OMIM:619641
HP:0012443	Abnormality of brain morphology	8733	GPAA1	ORPHA:529665
HP:0012443	Abnormality of brain morphology	8733	GPAA1	OMIM:617810
HP:0012443	Abnormality of brain morphology	5621	PRNP	ORPHA:157941
HP:0012443	Abnormality of brain morphology	5621	PRNP	OMIM:137440
HP:0012443	Abnormality of brain morphology	2232	FDXR	ORPHA:543470
HP:0012443	Abnormality of brain morphology	56947	MFF	ORPHA:485421
HP:0012443	Abnormality of brain morphology	56947	MFF	OMIM:617086
HP:0012443	Abnormality of brain morphology	23400	ATP13A2	OMIM:617225
HP:0012443	Abnormality of brain morphology	23400	ATP13A2	ORPHA:513436
HP:0012443	Abnormality of brain morphology	10531	PITRM1	OMIM:619405
HP:0012443	Abnormality of brain morphology	146227	BEAN1	ORPHA:217012
HP:0012443	Abnormality of brain morphology	146227	BEAN1	OMIM:117210
HP:0012443	Abnormality of brain morphology	256471	MFSD8	OMIM:610951
HP:0012443	Abnormality of brain morphology	91949	COG7	ORPHA:79333
HP:0012443	Abnormality of brain morphology	91949	COG7	OMIM:608779
HP:0012443	Abnormality of brain morphology	56652	TWNK	OMIM:271245
HP:0012443	Abnormality of brain morphology	56652	TWNK	ORPHA:254892
HP:0012443	Abnormality of brain morphology	23556	PIGN	OMIM:614080
HP:0012443	Abnormality of brain morphology	23556	PIGN	ORPHA:280633
HP:0012443	Abnormality of brain morphology	51651	PTRH2	OMIM:616263
HP:0012443	Abnormality of brain morphology	23162	MAPK8IP3	OMIM:618443
HP:0012443	Abnormality of brain morphology	197258	FCSK	OMIM:618324
HP:0012443	Abnormality of brain morphology	11284	PNKP	OMIM:616267
HP:0012443	Abnormality of brain morphology	11284	PNKP	ORPHA:1934
HP:0012443	Abnormality of brain morphology	11284	PNKP	OMIM:613402
HP:0012443	Abnormality of brain morphology	259232	NALCN	OMIM:616266
HP:0012443	Abnormality of brain morphology	339855	KY	ORPHA:496689
HP:0012443	Abnormality of brain morphology	125988	MICOS13	OMIM:618329
HP:0012443	Abnormality of brain morphology	29960	MRM2	OMIM:618567
HP:0012443	Abnormality of brain morphology	2055	CLN8	ORPHA:1947
HP:0012443	Abnormality of brain morphology	2055	CLN8	OMIM:600143
HP:0012443	Abnormality of brain morphology	2055	CLN8	OMIM:610003
HP:0012443	Abnormality of brain morphology	8813	DPM1	ORPHA:79322
HP:0012443	Abnormality of brain morphology	10195	ALG3	OMIM:601110
HP:0012443	Abnormality of brain morphology	91137	SLC25A46	OMIM:619303
HP:0012443	Abnormality of brain morphology	91137	SLC25A46	OMIM:616505
HP:0012443	Abnormality of brain morphology	58497	PRUNE1	OMIM:617481
HP:0012443	Abnormality of brain morphology	58497	PRUNE1	ORPHA:544469
HP:0012443	Abnormality of brain morphology	5111	PCNA	ORPHA:438134
HP:0012443	Abnormality of brain morphology	5111	PCNA	OMIM:615919
HP:0012443	Abnormality of brain morphology	11232	POLG2	OMIM:619425
HP:0012443	Abnormality of brain morphology	11232	POLG2	ORPHA:254892
HP:0012443	Abnormality of brain morphology	11232	POLG2	OMIM:610131
HP:0012443	Abnormality of brain morphology	6792	CDKL5	ORPHA:1934
HP:0012443	Abnormality of brain morphology	3736	KCNA1	ORPHA:1934
HP:0012443	Abnormality of brain morphology	3736	KCNA1	ORPHA:37612
HP:0012443	Abnormality of brain morphology	9091	PIGQ	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2775	GNAO1	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2775	GNAO1	OMIM:617493
HP:0012443	Abnormality of brain morphology	81603	TRIM8	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2902	GRIN1	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2902	GRIN1	OMIM:614254
HP:0012443	Abnormality of brain morphology	79751	SLC25A22	ORPHA:1934
HP:0012443	Abnormality of brain morphology	150094	SIK1	ORPHA:1934
HP:0012443	Abnormality of brain morphology	23312	DMXL2	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2917	GRM7	ORPHA:1934
HP:0012443	Abnormality of brain morphology	2917	GRM7	OMIM:618922
HP:0012443	Abnormality of brain morphology	170302	ARX	ORPHA:1934
HP:0012443	Abnormality of brain morphology	6326	SCN2A	ORPHA:1934
HP:0012443	Abnormality of brain morphology	51227	PIGP	ORPHA:1934
HP:0012443	Abnormality of brain morphology	6324	SCN1B	ORPHA:1934
HP:0012443	Abnormality of brain morphology	4761	NEUROD2	ORPHA:1934
HP:0012443	Abnormality of brain morphology	1203	CLN5	ORPHA:228360
HP:0012443	Abnormality of brain morphology	1203	CLN5	OMIM:256731
HP:0012443	Abnormality of brain morphology	291	SLC25A4	ORPHA:254892
HP:0012443	Abnormality of brain morphology	5428	POLG	ORPHA:254892
HP:0012443	Abnormality of brain morphology	5428	POLG	OMIM:258450
HP:0012443	Abnormality of brain morphology	5428	POLG	ORPHA:254886
HP:0012443	Abnormality of brain morphology	5428	POLG	OMIM:203700
HP:0012443	Abnormality of brain morphology	50484	RRM2B	ORPHA:254892
HP:0012443	Abnormality of brain morphology	23111	SPART	OMIM:275900
HP:0012443	Abnormality of brain morphology	10059	DNM1L	ORPHA:330050
HP:0012443	Abnormality of brain morphology	10059	DNM1L	ORPHA:98673
HP:0012443	Abnormality of brain morphology	8925	HERC1	OMIM:617011
HP:0012443	Abnormality of brain morphology	79876	UBA5	OMIM:617132
HP:0012443	Abnormality of brain morphology	79876	UBA5	OMIM:617133
HP:0012443	Abnormality of brain morphology	10466	COG5	ORPHA:263487
HP:0012443	Abnormality of brain morphology	10466	COG5	OMIM:613612
HP:0012443	Abnormality of brain morphology	9759	HDAC4	OMIM:619797
HP:0012443	Abnormality of brain morphology	23516	SLC39A14	OMIM:617013
HP:0012443	Abnormality of brain morphology	23516	SLC39A14	ORPHA:521406
HP:0012443	Abnormality of brain morphology	8506	CNTNAP1	OMIM:616286
HP:0012443	Abnormality of brain morphology	8506	CNTNAP1	OMIM:618186
HP:0012443	Abnormality of brain morphology	23345	SYNE1	ORPHA:88644
HP:0012443	Abnormality of brain morphology	23345	SYNE1	OMIM:610743
HP:0012443	Abnormality of brain morphology	51728	POLR3K	OMIM:619310
HP:0012443	Abnormality of brain morphology	10785	WDR4	OMIM:618347
HP:0012443	Abnormality of brain morphology	4719	NDUFS1	OMIM:618226
HP:0012443	Abnormality of brain morphology	51412	ACTL6B	OMIM:618468
HP:0012443	Abnormality of brain morphology	3708	ITPR1	ORPHA:208513
HP:0012443	Abnormality of brain morphology	3708	ITPR1	OMIM:206700
HP:0012443	Abnormality of brain morphology	3708	ITPR1	ORPHA:98769
HP:0012443	Abnormality of brain morphology	3708	ITPR1	OMIM:606658
HP:0012443	Abnormality of brain morphology	4838	NODAL	OMIM:270100
HP:0012443	Abnormality of brain morphology	6507	SLC1A3	ORPHA:209967
HP:0012443	Abnormality of brain morphology	6507	SLC1A3	OMIM:612656
HP:0012443	Abnormality of brain morphology	128869	PIGU	OMIM:618590
HP:0012443	Abnormality of brain morphology	10733	PLK4	OMIM:616171
HP:0012443	Abnormality of brain morphology	6548	SLC9A1	OMIM:616291
HP:0012443	Abnormality of brain morphology	55610	VPS50	OMIM:619685
HP:0012443	Abnormality of brain morphology	7084	TK2	ORPHA:254886
HP:0012443	Abnormality of brain morphology	81790	RNF170	OMIM:619686
HP:0012443	Abnormality of brain morphology	23102	TBC1D2B	OMIM:619323
HP:0012443	Abnormality of brain morphology	23114	NFASC	OMIM:618356
HP:0012443	Abnormality of brain morphology	6647	SOD1	OMIM:618598
HP:0012443	Abnormality of brain morphology	92667	MGME1	OMIM:615084
HP:0012443	Abnormality of brain morphology	92667	MGME1	ORPHA:352447
HP:0012443	Abnormality of brain morphology	25814	ATXN10	OMIM:603516
HP:0012443	Abnormality of brain morphology	25814	ATXN10	ORPHA:98761
HP:0012443	Abnormality of brain morphology	5649	RELN	ORPHA:89844
HP:0012443	Abnormality of brain morphology	51601	LIPT1	OMIM:616299
HP:0012443	Abnormality of brain morphology	8878	SQSTM1	OMIM:617145
HP:0012443	Abnormality of brain morphology	29078	NDUFAF4	OMIM:618237
HP:0012443	Abnormality of brain morphology	11152	WDR45	ORPHA:329284
HP:0012443	Abnormality of brain morphology	11152	WDR45	OMIM:300894
HP:0012443	Abnormality of brain morphology	154881	KCTD7	OMIM:611726
HP:0012443	Abnormality of brain morphology	154881	KCTD7	ORPHA:263516
HP:0012443	Abnormality of brain morphology	9179	AP4M1	OMIM:612936
HP:0012443	Abnormality of brain morphology	9179	AP4M1	ORPHA:280763
HP:0012443	Abnormality of brain morphology	79944	L2HGDH	OMIM:236792
HP:0012443	Abnormality of brain morphology	6904	TBCD	ORPHA:496641
HP:0012443	Abnormality of brain morphology	6904	TBCD	OMIM:617193
HP:0012443	Abnormality of brain morphology	4976	OPA1	ORPHA:98673
HP:0012443	Abnormality of brain morphology	4976	OPA1	OMIM:210000
HP:0012443	Abnormality of brain morphology	5934	RBL2	OMIM:619690
HP:0012443	Abnormality of brain morphology	25929	GEMIN5	OMIM:619333
HP:0012443	Abnormality of brain morphology	56915	EXOSC5	OMIM:619576
HP:0012443	Abnormality of brain morphology	10588	MTHFS	OMIM:618367
HP:0012443	Abnormality of brain morphology	63925	ZNF335	OMIM:615095
HP:0012443	Abnormality of brain morphology	4704	NDUFA9	OMIM:618247
HP:0012443	Abnormality of brain morphology	55572	FOXRED1	OMIM:618241
HP:0012443	Abnormality of brain morphology	3746	KCNC1	OMIM:616187
HP:0012443	Abnormality of brain morphology	8120	AP3B2	OMIM:617276
HP:0012443	Abnormality of brain morphology	54834	GDAP2	OMIM:618369
HP:0012443	Abnormality of brain morphology	7965	AIMP2	OMIM:618006
HP:0012443	Abnormality of brain morphology	51079	NDUFA13	OMIM:618249
HP:0012443	Abnormality of brain morphology	26999	CYFIP2	OMIM:618008
HP:0012443	Abnormality of brain morphology	1201	CLN3	ORPHA:228346
HP:0012443	Abnormality of brain morphology	773	CACNA1A	ORPHA:569
HP:0012443	Abnormality of brain morphology	773	CACNA1A	OMIM:183086
HP:0012443	Abnormality of brain morphology	773	CACNA1A	OMIM:141500
HP:0012443	Abnormality of brain morphology	112476	PRRT2	ORPHA:569
HP:0012443	Abnormality of brain morphology	6323	SCN1A	ORPHA:569
HP:0012443	Abnormality of brain morphology	2898	GRIK2	OMIM:619580
HP:0012443	Abnormality of brain morphology	5611	DNAJC3	OMIM:616192
HP:0012443	Abnormality of brain morphology	5611	DNAJC3	ORPHA:445062
HP:0012443	Abnormality of brain morphology	2332	FMR1	OMIM:300623
HP:0012443	Abnormality of brain morphology	372	ARCN1	OMIM:617164
HP:0012443	Abnormality of brain morphology	2705	GJB1	OMIM:302800
HP:0012443	Abnormality of brain morphology	523	ATP6V1A	OMIM:618012
HP:0012443	Abnormality of brain morphology	2257	FGF12	OMIM:617166
HP:0012443	Abnormality of brain morphology	2071	ERCC3	OMIM:610651
HP:0012443	Abnormality of brain morphology	1200	TPP1	OMIM:609270
HP:0012443	Abnormality of brain morphology	1200	TPP1	ORPHA:284324
HP:0012443	Abnormality of brain morphology	220296	HEPACAM	OMIM:613925
HP:0012443	Abnormality of brain morphology	1938	EEF2	ORPHA:101112
HP:0012443	Abnormality of brain morphology	1938	EEF2	OMIM:609306
HP:0012443	Abnormality of brain morphology	65260	COA7	OMIM:618387
HP:0012443	Abnormality of brain morphology	23316	CUX2	OMIM:618141
HP:0012443	Abnormality of brain morphology	64849	SLC13A3	OMIM:618384
HP:0012443	Abnormality of brain morphology	94005	PIGS	OMIM:618143
HP:0012443	Abnormality of brain morphology	4361	MRE11	ORPHA:251347
HP:0012443	Abnormality of brain morphology	4361	MRE11	OMIM:604391
HP:0012443	Abnormality of brain morphology	1528	CYB5A	ORPHA:621
HP:0012443	Abnormality of brain morphology	1727	CYB5R3	ORPHA:621
HP:0012443	Abnormality of brain morphology	2571	GAD1	OMIM:619124
HP:0012443	Abnormality of brain morphology	6872	TAF1	OMIM:300966
HP:0012443	Abnormality of brain morphology	90522	YIF1B	OMIM:619125
HP:0012443	Abnormality of brain morphology	84340	GFM2	OMIM:618397
HP:0012443	Abnormality of brain morphology	79152	FA2H	ORPHA:171629
HP:0012443	Abnormality of brain morphology	79152	FA2H	ORPHA:329308
HP:0012443	Abnormality of brain morphology	79152	FA2H	OMIM:612319
HP:0012443	Abnormality of brain morphology	57038	RARS2	OMIM:611523
HP:0012443	Abnormality of brain morphology	57704	GBA2	ORPHA:320391
HP:0012443	Abnormality of brain morphology	57704	GBA2	OMIM:614409
HP:0012443	Abnormality of brain morphology	2799	GNS	OMIM:252940
HP:0012443	Abnormality of brain morphology	9895	TECPR2	ORPHA:320385
HP:0012443	Abnormality of brain morphology	10479	SLC9A6	ORPHA:85278
HP:0012443	Abnormality of brain morphology	10479	SLC9A6	OMIM:300243
HP:0012443	Abnormality of brain morphology	10273	STUB1	ORPHA:412057
HP:0012443	Abnormality of brain morphology	10273	STUB1	OMIM:618093
HP:0012443	Abnormality of brain morphology	10273	STUB1	OMIM:615768
HP:0012443	Abnormality of brain morphology	383	ARG1	OMIM:207800
HP:0012443	Abnormality of brain morphology	54936	ADPRS	OMIM:618170
HP:0012443	Abnormality of brain morphology	64802	NMNAT1	OMIM:619260
HP:0012443	Abnormality of brain morphology	79644	SRD5A3	ORPHA:324737
HP:0012443	Abnormality of brain morphology	27072	VPS41	OMIM:619389
HP:0012443	Abnormality of brain morphology	84274	COQ5	OMIM:619028
HP:0012443	Abnormality of brain morphology	221927	BRAT1	OMIM:618056
HP:0012443	Abnormality of brain morphology	11342	RNF13	ORPHA:544503
HP:0012443	Abnormality of brain morphology	8398	PLA2G6	OMIM:610217
HP:0012443	Abnormality of brain morphology	8398	PLA2G6	ORPHA:35069
HP:0012443	Abnormality of brain morphology	8398	PLA2G6	OMIM:256600
HP:0012443	Abnormality of brain morphology	64858	DCLRE1B	OMIM:620133
HP:0012443	Abnormality of brain morphology	55129	ANO10	OMIM:613728
HP:0012443	Abnormality of brain morphology	55129	ANO10	ORPHA:284289
HP:0012443	Abnormality of brain morphology	60481	ELOVL5	ORPHA:423296
HP:0012443	Abnormality of brain morphology	25792	CIZ1	ORPHA:420492
HP:0012443	Abnormality of brain morphology	64374	SIL1	OMIM:248800
HP:0012443	Abnormality of brain morphology	4702	NDUFA8	OMIM:619272
HP:0012443	Abnormality of brain morphology	10134	BCAP31	OMIM:300475
HP:0012443	Abnormality of brain morphology	10134	BCAP31	ORPHA:369939
HP:0012443	Abnormality of brain morphology	158	ADSL	OMIM:103050
HP:0012443	Abnormality of brain morphology	51102	MECR	ORPHA:508093
HP:0012443	Abnormality of brain morphology	5393	EXOSC9	OMIM:618065
HP:0012443	Abnormality of brain morphology	7355	SLC35A2	ORPHA:356961
HP:0012443	Abnormality of brain morphology	1593	CYP27A1	OMIM:213700
HP:0012443	Abnormality of brain morphology	1593	CYP27A1	ORPHA:909
HP:0012443	Abnormality of brain morphology	347734	SLC35B2	OMIM:620269
HP:0012443	Abnormality of brain morphology	10667	FARS2	OMIM:614946
HP:0012443	Abnormality of brain morphology	23126	POGZ	ORPHA:468678
HP:0012443	Abnormality of brain morphology	200205	IBA57	ORPHA:468661
HP:0012443	Abnormality of brain morphology	9442	MED27	OMIM:619286
HP:0012443	Abnormality of brain morphology	6311	ATXN2	OMIM:183090
HP:0012443	Abnormality of brain morphology	54476	RNF216	OMIM:212840
HP:0012443	Abnormality of brain morphology	23431	AP4E1	OMIM:613744
HP:0012443	Abnormality of brain morphology	23431	AP4E1	ORPHA:280763
HP:0012443	Abnormality of brain morphology	4884	NPTX1	OMIM:620158
HP:0012443	Abnormality of brain morphology	9382	COG1	OMIM:611209
HP:0012443	Abnormality of brain morphology	51324	SPG21	OMIM:248900
HP:0012443	Abnormality of brain morphology	64207	IRF2BPL	OMIM:618088
HP:0012443	Abnormality of brain morphology	55157	DARS2	ORPHA:137898
HP:0012443	Abnormality of brain morphology	5173	PDYN	OMIM:610245
HP:0012443	Abnormality of brain morphology	1509	CTSD	OMIM:610127
HP:0012443	Abnormality of brain morphology	1717	DHCR7	OMIM:270400
HP:0012443	Abnormality of brain morphology	80856	LNPK	OMIM:618090
HP:0012443	Abnormality of brain morphology	26278	SACS	ORPHA:98
HP:0012443	Abnormality of brain morphology	1327	COX4I1	OMIM:619060
HP:0012443	Abnormality of brain morphology	23203	PMPCA	ORPHA:1170
HP:0012443	Abnormality of brain morphology	7156	TOP3A	OMIM:618098
HP:0012443	Abnormality of brain morphology	26090	ABHD12	OMIM:612674
HP:0012443	Abnormality of brain morphology	55775	TDP1	OMIM:607250
HP:0012443	Abnormality of brain morphology	84342	COG8	ORPHA:95428
HP:0012443	Abnormality of brain morphology	84342	COG8	OMIM:611182
HP:0012443	Abnormality of brain morphology	1600	DAB1	OMIM:615945
HP:0012443	Abnormality of brain morphology	4598	MVK	OMIM:610377
HP:0012443	Abnormality of brain morphology	10382	TUBB4A	OMIM:612438
HP:0012443	Abnormality of brain morphology	84947	SERAC1	OMIM:614739
HP:0012443	Abnormality of brain morphology	9711	RUBCN	OMIM:615705
HP:0012443	Abnormality of brain morphology	6908	TBP	OMIM:607136
HP:0012443	Abnormality of brain morphology	6908	TBP	ORPHA:98759
HP:0012443	Abnormality of brain morphology	7915	ALDH5A1	OMIM:271980
HP:0012443	Abnormality of brain morphology	2259	FGF14	OMIM:620174
HP:0012443	Abnormality of brain morphology	2259	FGF14	ORPHA:98764
HP:0012443	Abnormality of brain morphology	2259	FGF14	OMIM:193003
HP:0012443	Abnormality of brain morphology	3475	IFRD1	ORPHA:98771
HP:0012443	Abnormality of brain morphology	3752	KCND3	ORPHA:98772
HP:0012443	Abnormality of brain morphology	3752	KCND3	OMIM:607346
HP:0012443	Abnormality of brain morphology	1267	CNP	OMIM:619071
HP:0012443	Abnormality of brain morphology	5828	PEX2	OMIM:614866
HP:0012443	Abnormality of brain morphology	5828	PEX2	OMIM:614867
HP:0012443	Abnormality of brain morphology	90624	LYRM7	OMIM:615838
HP:0012443	Abnormality of brain morphology	3748	KCNC3	ORPHA:98768
HP:0012443	Abnormality of brain morphology	3748	KCNC3	OMIM:605259
HP:0012443	Abnormality of brain morphology	83475	DOHH	OMIM:620066
HP:0012443	Abnormality of brain morphology	724066	ATXN8	ORPHA:98760
HP:0012443	Abnormality of brain morphology	724066	ATXN8	OMIM:608768
HP:0012443	Abnormality of brain morphology	6315	ATXN8OS	ORPHA:98760
HP:0012443	Abnormality of brain morphology	6315	ATXN8OS	OMIM:608768
HP:0012443	Abnormality of brain morphology	492	ATP2B3	OMIM:302500
HP:0012443	Abnormality of brain morphology	255928	SYT14	ORPHA:284271
HP:0012443	Abnormality of brain morphology	255928	SYT14	OMIM:614229
HP:0012443	Abnormality of brain morphology	5192	PEX10	OMIM:614871
HP:0012443	Abnormality of brain morphology	9409	PEX16	OMIM:614877
HP:0012443	Abnormality of brain morphology	25828	TXN2	OMIM:616811
HP:0012443	Abnormality of brain morphology	7274	TTPA	OMIM:277460
HP:0012443	Abnormality of brain morphology	6310	ATXN1	ORPHA:98755
HP:0012443	Abnormality of brain morphology	22880	MORC2	OMIM:619090
HP:0012443	Abnormality of brain morphology	22880	MORC2	ORPHA:466768
HP:0012443	Abnormality of brain morphology	55275	VPS53	OMIM:615851
HP:0012443	Abnormality of brain morphology	1384	CRAT	OMIM:617917
HP:0012443	Abnormality of brain morphology	64116	SLC39A8	ORPHA:468699
HP:0012443	Abnormality of brain morphology	64116	SLC39A8	OMIM:616721
HP:0012443	Abnormality of brain morphology	200403	VWA3B	OMIM:616948
HP:0012443	Abnormality of brain morphology	85021	REPS1	OMIM:617916
HP:0012443	Abnormality of brain morphology	6314	ATXN7	ORPHA:94147
HP:0012443	Abnormality of brain morphology	57017	COQ9	OMIM:614654
HP:0012443	Abnormality of brain morphology	22907	DHX30	OMIM:617804
HP:0012443	Abnormality of brain morphology	79628	SH3TC2	ORPHA:99949
HP:0012443	Abnormality of brain morphology	7407	VARS1	OMIM:617802
HP:0012443	Abnormality of brain morphology	339453	TMEM240	OMIM:607454
HP:0012443	Abnormality of brain morphology	23064	SETX	OMIM:606002
HP:0012443	Abnormality of brain morphology	1861	TOR1A	OMIM:128100
HP:0012443	Abnormality of brain morphology	11128	POLR3A	OMIM:607694
HP:0012443	Abnormality of brain morphology	80207	OPA3	ORPHA:67036
HP:0012443	Abnormality of brain morphology	124997	WDR81	OMIM:610185
HP:0012443	Abnormality of brain morphology	6334	SCN8A	OMIM:614306
HP:0012443	Abnormality of brain morphology	7545	ZIC1	OMIM:616602
HP:0012443	Abnormality of brain morphology	55187	VPS13D	OMIM:607317
HP:0012443	Abnormality of brain morphology	998	CDC42	OMIM:616737
HP:0012443	Abnormality of brain morphology	998	CDC42	ORPHA:487796
HP:0012443	Abnormality of brain morphology	50	ACO2	OMIM:614559
HP:0012443	Abnormality of brain morphology	51010	EXOSC3	OMIM:614678
HP:0012443	Abnormality of brain morphology	2891	GRIA2	OMIM:618917
HP:0012443	Abnormality of brain morphology	4694	NDUFA1	OMIM:301020
HP:0012443	Abnormality of brain morphology	27235	COQ2	OMIM:607426
HP:0012443	Abnormality of brain morphology	23732	FRRS1L	OMIM:616981
HP:0012443	Abnormality of brain morphology	63035	BCORL1	OMIM:301029
HP:0012443	Abnormality of brain morphology	9512	PMPCB	OMIM:617954
HP:0012443	Abnormality of brain morphology	6709	SPTAN1	OMIM:613477
HP:0012443	Abnormality of brain morphology	51741	WWOX	OMIM:614322
HP:0012443	Abnormality of brain morphology	2058	EPRS1	OMIM:617951
HP:0012443	Abnormality of brain morphology	5582	PRKCG	OMIM:605361
HP:0012443	Abnormality of brain morphology	5422	POLA1	OMIM:301030
HP:0012443	Abnormality of brain morphology	84188	FAR1	ORPHA:438178
HP:0012443	Abnormality of brain morphology	57511	COG6	OMIM:614576
HP:0012443	Abnormality of brain morphology	23065	EMC1	OMIM:616875
HP:0012443	Abnormality of brain morphology	128637	TBC1D20	OMIM:615663
HP:0012443	Abnormality of brain morphology	5981	RFC1	OMIM:614575
HP:0012443	Abnormality of brain morphology	55644	OSGEP	OMIM:617729
HP:0012443	Abnormality of brain morphology	9997	SCO2	OMIM:604377
HP:0012443	Abnormality of brain morphology	8270	LAGE3	OMIM:301006
HP:0012443	Abnormality of brain morphology	80781	COL18A1	OMIM:267750
HP:0012443	Abnormality of brain morphology	122553	TRAPPC6B	OMIM:617862
HP:0012443	Abnormality of brain morphology	7222	TRPC3	OMIM:616410
HP:0012443	Abnormality of brain morphology	80210	ARMC9	OMIM:617622
HP:0012443	Abnormality of brain morphology	2670	GFAP	ORPHA:363717
HP:0012443	Abnormality of brain morphology	55704	CCDC88A	OMIM:617507
HP:0012443	Abnormality of brain morphology	55164	SHQ1	OMIM:619922
HP:0012443	Abnormality of brain morphology	6785	ELOVL4	OMIM:133190
HP:0012443	Abnormality of brain morphology	617	BCS1L	OMIM:124000
HP:0012443	Abnormality of brain morphology	10717	AP4B1	ORPHA:280763
HP:0012443	Abnormality of brain morphology	11154	AP4S1	ORPHA:280763
HP:0012443	Abnormality of brain morphology	95	ACY1	OMIM:609924
HP:0012443	Abnormality of brain morphology	8913	CACNA1G	ORPHA:458803
HP:0012443	Abnormality of brain morphology	8913	CACNA1G	OMIM:616795
HP:0012443	Abnormality of brain morphology	9197	SLC33A1	OMIM:614482
HP:0012443	Abnormality of brain morphology	4724	NDUFS4	OMIM:252010
HP:0012443	Abnormality of brain morphology	7515	XRCC1	OMIM:617633
HP:0012443	Abnormality of brain morphology	133686	NADK2	ORPHA:431361
HP:0012443	Abnormality of brain morphology	23533	PIK3R5	OMIM:615217
HP:0012443	Abnormality of brain morphology	3778	KCNMA1	OMIM:618729
HP:0012443	Abnormality of brain morphology	3778	KCNMA1	OMIM:617643
HP:0012443	Abnormality of brain morphology	87178	PNPT1	OMIM:608703
HP:0012443	Abnormality of brain morphology	8884	SLC5A6	OMIM:618973
HP:0012443	Abnormality of brain morphology	23404	EXOSC2	OMIM:617763
HP:0012443	Abnormality of brain morphology	79587	CARS2	OMIM:616672
HP:0012443	Abnormality of brain morphology	2196	FAT2	OMIM:617769
HP:0012443	Abnormality of brain morphology	5297	PI4KA	OMIM:619708
HP:0012443	Abnormality of brain morphology	267010	RNU12	ORPHA:512260
HP:0012443	Abnormality of brain morphology	4297	KMT2A	ORPHA:319182
HP:0012443	Abnormality of brain morphology	27245	AHDC1	ORPHA:412069
HP:0012443	Abnormality of brain morphology	2475	MTOR	ORPHA:457485
HP:0012443	Abnormality of brain morphology	55904	KMT2E	OMIM:618512
HP:0012443	Abnormality of brain morphology	3737	KCNA2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	10991	SLC38A3	ORPHA:442835
HP:0012443	Abnormality of brain morphology	51343	FZR1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2566	GABRG2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	1917	EEF1A2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2561	GABRB2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	8831	SYNGAP1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	7532	YWHAG	ORPHA:442835
HP:0012443	Abnormality of brain morphology	6328	SCN3A	ORPHA:442835
HP:0012443	Abnormality of brain morphology	781	CACNA2D1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2906	GRIN2D	ORPHA:442835
HP:0012443	Abnormality of brain morphology	10659	CELF2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	774	CACNA1B	ORPHA:442835
HP:0012443	Abnormality of brain morphology	1213	CLTC	ORPHA:442835
HP:0012443	Abnormality of brain morphology	23334	SZT2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	348980	HCN1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	6506	SLC1A2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2258	FGF13	ORPHA:442835
HP:0012443	Abnormality of brain morphology	3745	KCNB1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	284111	SLC13A5	ORPHA:442835
HP:0012443	Abnormality of brain morphology	25977	NECAP1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	16	AARS1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	9568	GABBR2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2555	GABRA2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	55152	DALRD3	ORPHA:442835
HP:0012443	Abnormality of brain morphology	4915	NTRK2	ORPHA:442835
HP:0012443	Abnormality of brain morphology	23097	CDK19	ORPHA:442835
HP:0012443	Abnormality of brain morphology	64801	ARV1	ORPHA:442835
HP:0012443	Abnormality of brain morphology	79947	DHDDS	ORPHA:442835
HP:0012443	Abnormality of brain morphology	5530	PPP3CA	ORPHA:442835
HP:0012443	Abnormality of brain morphology	2581	GALC	ORPHA:206448
HP:0012443	Abnormality of brain morphology	5354	PLP1	ORPHA:280229
HP:0012443	Abnormality of brain morphology	8241	RBM10	ORPHA:2886
HP:0012443	Abnormality of brain morphology	3423	IDS	ORPHA:217093
HP:0012443	Abnormality of brain morphology	3476	IGBP1	OMIM:300472
HP:0012443	Abnormality of brain morphology	3476	IGBP1	ORPHA:52055
HP:0012443	Abnormality of brain morphology	7528	YY1	ORPHA:506358
HP:0012443	Abnormality of brain morphology	23141	ANKLE2	OMIM:616681
HP:0012443	Abnormality of brain morphology	23141	ANKLE2	ORPHA:2512
HP:0012443	Abnormality of brain morphology	1024	CDK8	OMIM:618748
HP:0012443	Abnormality of brain morphology	10992	SF3B2	OMIM:164210
HP:0012443	Abnormality of brain morphology	9839	ZEB2	OMIM:235730
HP:0012443	Abnormality of brain morphology	9839	ZEB2	ORPHA:261552
HP:0012443	Abnormality of brain morphology	9839	ZEB2	ORPHA:261537
HP:0012443	Abnormality of brain morphology	2731	GLDC	OMIM:605899
HP:0012443	Abnormality of brain morphology	275	AMT	OMIM:605899
HP:0012443	Abnormality of brain morphology	3190	HNRNPK	ORPHA:453504
HP:0012443	Abnormality of brain morphology	3190	HNRNPK	ORPHA:352665
HP:0012443	Abnormality of brain morphology	55112	DYNC2I1	ORPHA:93271
HP:0012443	Abnormality of brain morphology	57560	IFT80	ORPHA:93271
HP:0012443	Abnormality of brain morphology	57539	WDR35	ORPHA:93271
HP:0012443	Abnormality of brain morphology	79659	DYNC2H1	ORPHA:93271
HP:0012443	Abnormality of brain morphology	79659	DYNC2H1	OMIM:613091
HP:0012443	Abnormality of brain morphology	89891	DYNC2I2	ORPHA:93271
HP:0012443	Abnormality of brain morphology	4281	MID1	OMIM:300000
HP:0012443	Abnormality of brain morphology	4281	MID1	ORPHA:2745
HP:0012443	Abnormality of brain morphology	116931	MED12L	OMIM:618872
HP:0012443	Abnormality of brain morphology	9578	CDC42BPB	OMIM:619841
HP:0012443	Abnormality of brain morphology	1630	DCC	OMIM:617542
HP:0012443	Abnormality of brain morphology	1630	DCC	ORPHA:238722
HP:0012443	Abnormality of brain morphology	1630	DCC	OMIM:157600
HP:0012443	Abnormality of brain morphology	6576	SLC25A1	OMIM:618197
HP:0012443	Abnormality of brain morphology	4867	NPHP1	ORPHA:220497
HP:0012443	Abnormality of brain morphology	22858	CILK1	OMIM:612651
HP:0012443	Abnormality of brain morphology	54806	AHI1	ORPHA:220493
HP:0012443	Abnormality of brain morphology	153241	CEP120	ORPHA:220493
HP:0012443	Abnormality of brain morphology	95681	CEP41	ORPHA:220493
HP:0012443	Abnormality of brain morphology	26153	KIF26A	OMIM:620156
HP:0012443	Abnormality of brain morphology	51684	SUFU	ORPHA:280200
HP:0012443	Abnormality of brain morphology	2263	FGFR2	ORPHA:87
HP:0012443	Abnormality of brain morphology	2263	FGFR2	OMIM:123790
HP:0012443	Abnormality of brain morphology	2263	FGFR2	OMIM:101200
HP:0012443	Abnormality of brain morphology	56992	KIF15	ORPHA:261323
HP:0012443	Abnormality of brain morphology	1020	CDK5	OMIM:616342
HP:0012443	Abnormality of brain morphology	23522	KAT6B	OMIM:606170
HP:0012443	Abnormality of brain morphology	23522	KAT6B	ORPHA:85201
HP:0012443	Abnormality of brain morphology	55681	SCYL2	OMIM:618766
HP:0012443	Abnormality of brain morphology	6597	SMARCA4	OMIM:614609
HP:0012443	Abnormality of brain morphology	6597	SMARCA4	ORPHA:1465
HP:0012443	Abnormality of brain morphology	9401	RECQL4	OMIM:218600
HP:0012443	Abnormality of brain morphology	57216	VANGL2	ORPHA:563612
HP:0012443	Abnormality of brain morphology	7469	NELFA	ORPHA:280
HP:0012443	Abnormality of brain morphology	22872	SEC31A	OMIM:618651
HP:0012443	Abnormality of brain morphology	57498	KIDINS220	OMIM:619501
HP:0012443	Abnormality of brain morphology	55012	PPP2R3C	OMIM:618419
HP:0012443	Abnormality of brain morphology	51021	MRPS16	OMIM:610498
HP:0012443	Abnormality of brain morphology	6602	SMARCD1	OMIM:618779
HP:0012443	Abnormality of brain morphology	6602	SMARCD1	ORPHA:1465
HP:0012443	Abnormality of brain morphology	55623	THUMPD1	OMIM:619989
HP:0012443	Abnormality of brain morphology	3192	HNRNPU	ORPHA:238769
HP:0012443	Abnormality of brain morphology	9653	HS2ST1	OMIM:619194
HP:0012443	Abnormality of brain morphology	129563	DIS3L2	OMIM:267000
HP:0012443	Abnormality of brain morphology	1947	EFNB1	OMIM:304110
HP:0012443	Abnormality of brain morphology	5518	PPP2R1A	OMIM:616362
HP:0012443	Abnormality of brain morphology	5518	PPP2R1A	ORPHA:457284
HP:0012443	Abnormality of brain morphology	1182	CLCN3	OMIM:619512
HP:0012443	Abnormality of brain morphology	23512	SUZ12	OMIM:618786
HP:0012443	Abnormality of brain morphology	6608	SMO	OMIM:601707
HP:0012443	Abnormality of brain morphology	6608	SMO	ORPHA:1553
HP:0012443	Abnormality of brain morphology	1349	COX7B	OMIM:309801
HP:0012443	Abnormality of brain morphology	1349	COX7B	OMIM:300887
HP:0012443	Abnormality of brain morphology	1349	COX7B	ORPHA:2556
HP:0012443	Abnormality of brain morphology	3052	HCCS	OMIM:309801
HP:0012443	Abnormality of brain morphology	3052	HCCS	ORPHA:2556
HP:0012443	Abnormality of brain morphology	54539	NDUFB11	OMIM:309801
HP:0012443	Abnormality of brain morphology	54539	NDUFB11	ORPHA:2556
HP:0012443	Abnormality of brain morphology	54539	NDUFB11	OMIM:300952
HP:0012443	Abnormality of brain morphology	55773	TBC1D23	OMIM:617695
HP:0012443	Abnormality of brain morphology	5626	PROP1	ORPHA:226307
HP:0012443	Abnormality of brain morphology	5626	PROP1	ORPHA:95494
HP:0012443	Abnormality of brain morphology	89884	LHX4	ORPHA:226307
HP:0012443	Abnormality of brain morphology	89884	LHX4	ORPHA:95494
HP:0012443	Abnormality of brain morphology	8022	LHX3	ORPHA:226307
HP:0012443	Abnormality of brain morphology	5449	POU1F1	ORPHA:226307
HP:0012443	Abnormality of brain morphology	5449	POU1F1	ORPHA:95494
HP:0012443	Abnormality of brain morphology	8820	HESX1	ORPHA:226307
HP:0012443	Abnormality of brain morphology	8820	HESX1	ORPHA:95494
HP:0012443	Abnormality of brain morphology	8820	HESX1	OMIM:182230
HP:0012443	Abnormality of brain morphology	8820	HESX1	ORPHA:3157
HP:0012443	Abnormality of brain morphology	4519	MT-CYB	ORPHA:137675
HP:0012443	Abnormality of brain morphology	6558	SLC12A2	OMIM:619083
HP:0012443	Abnormality of brain morphology	10236	HNRNPR	OMIM:620073
HP:0012443	Abnormality of brain morphology	4036	LRP2	OMIM:222448
HP:0012443	Abnormality of brain morphology	3170	FOXA2	ORPHA:95494
HP:0012443	Abnormality of brain morphology	5015	OTX2	ORPHA:95494
HP:0012443	Abnormality of brain morphology	5015	OTX2	ORPHA:990
HP:0012443	Abnormality of brain morphology	5015	OTX2	ORPHA:3157
HP:0012443	Abnormality of brain morphology	83479	DDX59	ORPHA:2919
HP:0012443	Abnormality of brain morphology	83479	DDX59	OMIM:174300
HP:0012443	Abnormality of brain morphology	113179	ADAT3	OMIM:615286
HP:0012443	Abnormality of brain morphology	113179	ADAT3	ORPHA:363528
HP:0012443	Abnormality of brain morphology	8481	OFD1	OMIM:311200
HP:0012443	Abnormality of brain morphology	8481	OFD1	ORPHA:2750
HP:0012443	Abnormality of brain morphology	10472	ZBTB18	OMIM:612337
HP:0012443	Abnormality of brain morphology	57492	ARID1B	ORPHA:251056
HP:0012443	Abnormality of brain morphology	57492	ARID1B	ORPHA:1465
HP:0012443	Abnormality of brain morphology	2239	GPC4	ORPHA:373
HP:0012443	Abnormality of brain morphology	2239	GPC4	OMIM:312870
HP:0012443	Abnormality of brain morphology	2719	GPC3	ORPHA:373
HP:0012443	Abnormality of brain morphology	2719	GPC3	OMIM:312870
HP:0012443	Abnormality of brain morphology	10463	SLC30A9	OMIM:617595
HP:0012443	Abnormality of brain morphology	8565	YARS1	OMIM:619418
HP:0012443	Abnormality of brain morphology	2678	GGT1	OMIM:231950
HP:0012443	Abnormality of brain morphology	64919	BCL11B	OMIM:617237
HP:0012443	Abnormality of brain morphology	11023	VAX1	OMIM:614402
HP:0012443	Abnormality of brain morphology	257	ALX3	OMIM:136760
HP:0012443	Abnormality of brain morphology	8621	CDK13	OMIM:617360
HP:0012443	Abnormality of brain morphology	5881	RAC3	OMIM:618577
HP:0012443	Abnormality of brain morphology	60529	ALX4	ORPHA:228390
HP:0012443	Abnormality of brain morphology	3897	L1CAM	ORPHA:2466
HP:0012443	Abnormality of brain morphology	3897	L1CAM	OMIM:303350
HP:0012443	Abnormality of brain morphology	3897	L1CAM	OMIM:307000
HP:0012443	Abnormality of brain morphology	3897	L1CAM	ORPHA:2182
HP:0012443	Abnormality of brain morphology	9851	KIAA0753	OMIM:617127
HP:0012443	Abnormality of brain morphology	9990	SLC12A6	ORPHA:1496
HP:0012443	Abnormality of brain morphology	9990	SLC12A6	OMIM:218000
HP:0012443	Abnormality of brain morphology	164	AP1G1	OMIM:619548
HP:0012443	Abnormality of brain morphology	1801	DPH1	ORPHA:459061
HP:0012443	Abnormality of brain morphology	22827	PUF60	ORPHA:508498
HP:0012443	Abnormality of brain morphology	5888	RAD51	ORPHA:238722
HP:0012443	Abnormality of brain morphology	10126	DNAL4	ORPHA:238722
HP:0012443	Abnormality of brain morphology	9423	NTN1	ORPHA:238722
HP:0012443	Abnormality of brain morphology	56896	DPYSL5	OMIM:619435
HP:0012443	Abnormality of brain morphology	2879	GPX4	ORPHA:93317
HP:0012443	Abnormality of brain morphology	5396	PRRX1	OMIM:202650
HP:0012443	Abnormality of brain morphology	5396	PRRX1	ORPHA:990
HP:0012443	Abnormality of brain morphology	7473	WNT3	ORPHA:3301
HP:0012443	Abnormality of brain morphology	340419	RSPO2	ORPHA:3301
HP:0012443	Abnormality of brain morphology	55593	OTUD5	OMIM:301056
HP:0012443	Abnormality of brain morphology	7707	ZNF148	OMIM:617260
HP:0012443	Abnormality of brain morphology	1436	CSF1R	OMIM:618476
HP:0012443	Abnormality of brain morphology	23030	KDM4B	OMIM:619320
HP:0012443	Abnormality of brain morphology	5160	PDHA1	OMIM:312170
HP:0012443	Abnormality of brain morphology	5160	PDHA1	ORPHA:79243
HP:0012443	Abnormality of brain morphology	1806	DPYD	OMIM:274270
HP:0012443	Abnormality of brain morphology	55215	FANCI	OMIM:609053
HP:0012443	Abnormality of brain morphology	27185	DISC1	ORPHA:171703
HP:0012443	Abnormality of brain morphology	8320	EOMES	ORPHA:171703
HP:0012443	Abnormality of brain morphology	79133	NDUFAF5	OMIM:618238
HP:0012443	Abnormality of brain morphology	55997	CFC1	OMIM:605376
HP:0012443	Abnormality of brain morphology	84892	POMGNT2	ORPHA:899
HP:0012443	Abnormality of brain morphology	10329	RXYLT1	ORPHA:899
HP:0012443	Abnormality of brain morphology	6657	SOX2	ORPHA:77298
HP:0012443	Abnormality of brain morphology	6657	SOX2	OMIM:206900
HP:0012443	Abnormality of brain morphology	6657	SOX2	ORPHA:3157
HP:0012443	Abnormality of brain morphology	2657	GDF1	OMIM:208530
HP:0012443	Abnormality of brain morphology	85358	SHANK3	ORPHA:48652
HP:0012443	Abnormality of brain morphology	6598	SMARCB1	ORPHA:1465
HP:0012443	Abnormality of brain morphology	8289	ARID1A	ORPHA:1465
HP:0012443	Abnormality of brain morphology	5977	DPF2	ORPHA:1465
HP:0012443	Abnormality of brain morphology	6601	SMARCC2	ORPHA:1465
HP:0012443	Abnormality of brain morphology	196528	ARID2	ORPHA:1465
HP:0012443	Abnormality of brain morphology	6605	SMARCE1	ORPHA:1465
HP:0012443	Abnormality of brain morphology	6664	SOX11	ORPHA:1465
HP:0012443	Abnormality of brain morphology	5831	PYCR1	OMIM:612940
HP:0012443	Abnormality of brain morphology	1063	CENPF	OMIM:243605
HP:0012443	Abnormality of brain morphology	9361	LONP1	ORPHA:79243
HP:0012443	Abnormality of brain morphology	1000	CDH2	OMIM:618929
HP:0012443	Abnormality of brain morphology	1583	CYP11A1	ORPHA:289548
HP:0012443	Abnormality of brain morphology	1583	CYP11A1	ORPHA:168558
HP:0012443	Abnormality of brain morphology	1641	DCX	OMIM:300067
HP:0012443	Abnormality of brain morphology	7161	TP73	OMIM:619466
HP:0012443	Abnormality of brain morphology	2009	EML1	OMIM:600348
HP:0012443	Abnormality of brain morphology	5395	PMS2	OMIM:619101
HP:0012443	Abnormality of brain morphology	4990	SIX6	OMIM:206900
HP:0012443	Abnormality of brain morphology	2313	FLI1	ORPHA:2308
HP:0012443	Abnormality of brain morphology	60386	SLC25A19	ORPHA:99742
HP:0012443	Abnormality of brain morphology	64840	PORCN	OMIM:305600
HP:0012443	Abnormality of brain morphology	2290	FOXG1	ORPHA:261144
HP:0012443	Abnormality of brain morphology	8092	ALX1	ORPHA:306542
HP:0012443	Abnormality of brain morphology	28962	OSTM1	ORPHA:85179
HP:0012443	Abnormality of brain morphology	348180	CTU2	OMIM:618142
HP:0012443	Abnormality of brain morphology	1387	CREBBP	OMIM:180849
HP:0012443	Abnormality of brain morphology	2033	EP300	OMIM:180849
HP:0012443	Abnormality of brain morphology	9968	MED12	OMIM:309520
HP:0012443	Abnormality of brain morphology	1718	DHCR24	ORPHA:35107
HP:0012443	Abnormality of brain morphology	374879	ZNF699	OMIM:619488
HP:0012443	Abnormality of brain morphology	91875	TTC5	OMIM:619244
HP:0012443	Abnormality of brain morphology	6299	SALL1	ORPHA:857
HP:0012443	Abnormality of brain morphology	51339	DACT1	ORPHA:857
HP:0012443	Abnormality of brain morphology	118924	FRA10AC1	OMIM:620113
HP:0012443	Abnormality of brain morphology	113246	C12orf57	OMIM:218340
HP:0012443	Abnormality of brain morphology	55691	FRMD4A	ORPHA:466688
HP:0012443	Abnormality of brain morphology	1376	CPT2	OMIM:608836
HP:0012443	Abnormality of brain morphology	1376	CPT2	ORPHA:228308
HP:0012443	Abnormality of brain morphology	259266	ASPM	OMIM:608716
HP:0012443	Abnormality of brain morphology	259266	ASPM	ORPHA:2512
HP:0012443	Abnormality of brain morphology	2177	FANCD2	OMIM:227646
HP:0012443	Abnormality of brain morphology	84823	LMNB2	OMIM:616540
HP:0012443	Abnormality of brain morphology	4781	NFIB	OMIM:618286
HP:0012443	Abnormality of brain morphology	8777	MPDZ	OMIM:615219
HP:0012443	Abnormality of brain morphology	5430	POLR2A	OMIM:618603
HP:0012443	Abnormality of brain morphology	4292	MLH1	OMIM:276300
HP:0012443	Abnormality of brain morphology	9276	COPB2	ORPHA:2512
HP:0012443	Abnormality of brain morphology	22995	CEP152	ORPHA:2512
HP:0012443	Abnormality of brain morphology	284403	WDR62	ORPHA:2512
HP:0012443	Abnormality of brain morphology	55262	TRAPPC14	ORPHA:2512
HP:0012443	Abnormality of brain morphology	163786	SASS6	ORPHA:2512
HP:0012443	Abnormality of brain morphology	4176	MCM7	ORPHA:2512
HP:0012443	Abnormality of brain morphology	80254	CEP63	ORPHA:2512
HP:0012443	Abnormality of brain morphology	29081	METTL5	ORPHA:2512
HP:0012443	Abnormality of brain morphology	23310	NCAPD3	ORPHA:2512
HP:0012443	Abnormality of brain morphology	55755	CDK5RAP2	ORPHA:2512
HP:0012443	Abnormality of brain morphology	79648	MCPH1	ORPHA:2512
HP:0012443	Abnormality of brain morphology	7109	TRAPPC10	ORPHA:2512
HP:0012443	Abnormality of brain morphology	1911	PHC1	ORPHA:2512
HP:0012443	Abnormality of brain morphology	6884	TAF13	ORPHA:2512
HP:0012443	Abnormality of brain morphology	9662	CEP135	ORPHA:2512
HP:0012443	Abnormality of brain morphology	55835	CENPJ	ORPHA:2512
HP:0012443	Abnormality of brain morphology	57082	KNL1	ORPHA:2512
HP:0012443	Abnormality of brain morphology	1021	CDK6	ORPHA:2512
HP:0012443	Abnormality of brain morphology	18	ABAT	OMIM:613163
HP:0012443	Abnormality of brain morphology	8449	DHX16	OMIM:618733
HP:0012443	Abnormality of brain morphology	128674	PROKR2	ORPHA:3157
HP:0012443	Abnormality of brain morphology	6658	SOX3	ORPHA:3157
HP:0012443	Abnormality of brain morphology	9915	ARNT2	ORPHA:3157
HP:0012443	Abnormality of brain morphology	26275	HIBCH	OMIM:250620
HP:0012443	Abnormality of brain morphology	58499	ZNF462	OMIM:618619
HP:0012443	Abnormality of brain morphology	4524	MTHFR	ORPHA:395
HP:0012443	Abnormality of brain morphology	4524	MTHFR	OMIM:236250
HP:0012443	Abnormality of brain morphology	7428	VHL	OMIM:263400
HP:0012443	Abnormality of brain morphology	7428	VHL	ORPHA:892
HP:0012443	Abnormality of brain morphology	6331	SCN5A	OMIM:614022
HP:0012443	Abnormality of brain morphology	6331	SCN5A	OMIM:601154
HP:0012443	Abnormality of brain morphology	55503	TRPV6	OMIM:618188
HP:0012443	Abnormality of brain morphology	7148	TNXB	ORPHA:230839
HP:0012443	Abnormality of brain morphology	1161	ERCC8	ORPHA:90324
HP:0012443	Abnormality of brain morphology	2074	ERCC6	ORPHA:90324
HP:0012443	Abnormality of brain morphology	5009	OTC	OMIM:311250
HP:0012443	Abnormality of brain morphology	2997	GYS1	OMIM:611556
HP:0012443	Abnormality of brain morphology	7174	TPP2	ORPHA:444463
HP:0012443	Abnormality of brain morphology	2908	NR3C1	ORPHA:786
HP:0012443	Abnormality of brain morphology	2908	NR3C1	ORPHA:96253
HP:0012443	Abnormality of brain morphology	351	APP	ORPHA:324713
HP:0012443	Abnormality of brain morphology	351	APP	ORPHA:324703
HP:0012443	Abnormality of brain morphology	351	APP	ORPHA:324708
HP:0012443	Abnormality of brain morphology	351	APP	ORPHA:100006
HP:0012443	Abnormality of brain morphology	351	APP	OMIM:605714
HP:0012443	Abnormality of brain morphology	9342	SNAP29	ORPHA:66631
HP:0012443	Abnormality of brain morphology	10560	SLC19A2	ORPHA:49827
HP:0012443	Abnormality of brain morphology	10560	SLC19A2	OMIM:249270
HP:0012443	Abnormality of brain morphology	11093	ADAMTS13	OMIM:274150
HP:0012443	Abnormality of brain morphology	5573	PRKAR1A	ORPHA:1359
HP:0012443	Abnormality of brain morphology	50940	PDE11A	ORPHA:1359
HP:0012443	Abnormality of brain morphology	51816	ADA2	OMIM:182410
HP:0012443	Abnormality of brain morphology	51816	ADA2	OMIM:615688
HP:0012443	Abnormality of brain morphology	84196	USP48	ORPHA:96253
HP:0012443	Abnormality of brain morphology	7157	TP53	ORPHA:96253
HP:0012443	Abnormality of brain morphology	9101	USP8	ORPHA:96253
HP:0012443	Abnormality of brain morphology	64072	CDH23	ORPHA:96253
HP:0012443	Abnormality of brain morphology	673	BRAF	ORPHA:96253
HP:0012443	Abnormality of brain morphology	546	ATRX	ORPHA:96253
HP:0012443	Abnormality of brain morphology	3043	HBB	OMIM:603903
HP:0012443	Abnormality of brain morphology	9149	DYRK1B	OMIM:615812
HP:0012443	Abnormality of brain morphology	4352	MPL	ORPHA:729
HP:0012443	Abnormality of brain morphology	3717	JAK2	ORPHA:729
HP:0012443	Abnormality of brain morphology	54790	TET2	ORPHA:729
HP:0012443	Abnormality of brain morphology	4629	MYH11	OMIM:132900
HP:0012443	Abnormality of brain morphology	4629	MYH11	ORPHA:229
HP:0012443	Abnormality of brain morphology	4629	MYH11	ORPHA:91387
HP:0012443	Abnormality of brain morphology	5346	PLIN1	OMIM:613877
HP:0012443	Abnormality of brain morphology	128989	TANGO2	ORPHA:480864
HP:0012443	Abnormality of brain morphology	5277	PIGA	ORPHA:447
HP:0012443	Abnormality of brain morphology	3291	HSD11B2	ORPHA:320
HP:0012443	Abnormality of brain morphology	2318	FLNC	OMIM:617047
HP:0012443	Abnormality of brain morphology	2318	FLNC	ORPHA:75249
HP:0012443	Abnormality of brain morphology	4204	MECP2	ORPHA:3077
HP:0012443	Abnormality of brain morphology	4763	NF1	ORPHA:97685
HP:0012443	Abnormality of brain morphology	4089	SMAD4	OMIM:175050
HP:0012443	Abnormality of brain morphology	4089	SMAD4	ORPHA:91387
HP:0012443	Abnormality of brain morphology	10370	CITED2	ORPHA:99105
HP:0012443	Abnormality of brain morphology	10370	CITED2	ORPHA:99103
HP:0012443	Abnormality of brain morphology	4854	NOTCH3	OMIM:125310
HP:0012443	Abnormality of brain morphology	4854	NOTCH3	ORPHA:136
HP:0012443	Abnormality of brain morphology	1471	CST3	OMIM:105150
HP:0012443	Abnormality of brain morphology	1471	CST3	ORPHA:100008
HP:0012443	Abnormality of brain morphology	7092	TLL1	ORPHA:99103
HP:0012443	Abnormality of brain morphology	57057	TBX20	ORPHA:99103
HP:0012443	Abnormality of brain morphology	4624	MYH6	ORPHA:99103
HP:0012443	Abnormality of brain morphology	1482	NKX2-5	ORPHA:99103
HP:0012443	Abnormality of brain morphology	70	ACTC1	ORPHA:99103
HP:0012443	Abnormality of brain morphology	2626	GATA4	ORPHA:99103
HP:0012443	Abnormality of brain morphology	2627	GATA6	ORPHA:99103
HP:0012443	Abnormality of brain morphology	5654	HTRA1	ORPHA:199354
HP:0012443	Abnormality of brain morphology	5654	HTRA1	OMIM:616779
HP:0012443	Abnormality of brain morphology	5654	HTRA1	OMIM:600142
HP:0012443	Abnormality of brain morphology	4607	MYBPC3	OMIM:115197
HP:0012443	Abnormality of brain morphology	11277	TREX1	OMIM:192315
HP:0012443	Abnormality of brain morphology	5167	ENPP1	ORPHA:51608
HP:0012443	Abnormality of brain morphology	368	ABCC6	ORPHA:51608
HP:0012443	Abnormality of brain morphology	368	ABCC6	OMIM:264800
HP:0012443	Abnormality of brain morphology	6804	STX1A	ORPHA:904
HP:0012443	Abnormality of brain morphology	7461	CLIP2	ORPHA:904
HP:0012443	Abnormality of brain morphology	84277	DNAJC30	ORPHA:904
HP:0012443	Abnormality of brain morphology	8468	FKBP6	ORPHA:904
HP:0012443	Abnormality of brain morphology	5982	RFC2	ORPHA:904
HP:0012443	Abnormality of brain morphology	2969	GTF2I	ORPHA:904
HP:0012443	Abnormality of brain morphology	3984	LIMK1	ORPHA:904
HP:0012443	Abnormality of brain morphology	9569	GTF2IRD1	ORPHA:904
HP:0012443	Abnormality of brain morphology	155382	VPS37D	ORPHA:904
HP:0012443	Abnormality of brain morphology	155368	METTL27	ORPHA:904
HP:0012443	Abnormality of brain morphology	114049	BUD23	ORPHA:904
HP:0012443	Abnormality of brain morphology	7458	EIF4H	ORPHA:904
HP:0012443	Abnormality of brain morphology	84163	GTF2IRD2	ORPHA:904
HP:0012443	Abnormality of brain morphology	9275	BCL7B	ORPHA:904
HP:0012443	Abnormality of brain morphology	26608	TBL2	ORPHA:904
HP:0012443	Abnormality of brain morphology	653361	NCF1	ORPHA:904
HP:0012443	Abnormality of brain morphology	135886	TMEM270	ORPHA:904
HP:0012443	Abnormality of brain morphology	51085	MLXIPL	ORPHA:904
HP:0012443	Abnormality of brain morphology	51085	MLXIPL	OMIM:194050
HP:0012443	Abnormality of brain morphology	9031	BAZ1B	ORPHA:904
HP:0012443	Abnormality of brain morphology	2006	ELN	ORPHA:904
HP:0012443	Abnormality of brain morphology	2006	ELN	OMIM:194050
HP:0012443	Abnormality of brain morphology	2006	ELN	ORPHA:91387
HP:0012443	Abnormality of brain morphology	84665	MYPN	ORPHA:75249
HP:0012443	Abnormality of brain morphology	7139	TNNT2	ORPHA:75249
HP:0012443	Abnormality of brain morphology	7137	TNNI3	ORPHA:75249
HP:0012443	Abnormality of brain morphology	10112	KIF20A	ORPHA:75249
HP:0012443	Abnormality of brain morphology	83605	CCM2	OMIM:603284
HP:0012443	Abnormality of brain morphology	189	AGXT	ORPHA:93598
HP:0012443	Abnormality of brain morphology	4000	LMNA	ORPHA:740
HP:0012443	Abnormality of brain morphology	10269	ZMPSTE24	ORPHA:740
HP:0012443	Abnormality of brain morphology	2316	FLNA	OMIM:300049
HP:0012443	Abnormality of brain morphology	64131	XYLT1	OMIM:264800
HP:0012443	Abnormality of brain morphology	64132	XYLT2	OMIM:264800
HP:0012443	Abnormality of brain morphology	80206	FHOD3	OMIM:619402
HP:0012443	Abnormality of brain morphology	2982	GUCY1A1	ORPHA:401945
HP:0012443	Abnormality of brain morphology	50485	SMARCAL1	ORPHA:1830
HP:0012443	Abnormality of brain morphology	50485	SMARCAL1	OMIM:242900
HP:0012443	Abnormality of brain morphology	7276	TTR	ORPHA:85451
HP:0012443	Abnormality of brain morphology	182	JAG1	OMIM:118450
HP:0012443	Abnormality of brain morphology	28976	ACAD9	OMIM:611126
HP:0012443	Abnormality of brain morphology	595	CCND1	ORPHA:892
HP:0012443	Abnormality of brain morphology	126792	B3GALT6	ORPHA:536467
HP:0012443	Abnormality of brain morphology	2147	F2	OMIM:601367
HP:0012443	Abnormality of brain morphology	4846	NOS3	OMIM:601367
HP:0012443	Abnormality of brain morphology	5583	PRKCH	OMIM:601367
HP:0012443	Abnormality of brain morphology	2153	F5	OMIM:601367
HP:0012443	Abnormality of brain morphology	241	ALOX5AP	OMIM:601367
HP:0012443	Abnormality of brain morphology	727676	SNORD118	ORPHA:542310
HP:0012443	Abnormality of brain morphology	5116	PCNT	ORPHA:2637
HP:0012443	Abnormality of brain morphology	162417	NAGS	ORPHA:927
HP:0012443	Abnormality of brain morphology	25974	MMACHC	ORPHA:79282
HP:0012443	Abnormality of brain morphology	445	ASS1	OMIM:215700
HP:0012443	Abnormality of brain morphology	875	CBS	OMIM:236200
HP:0012443	Abnormality of brain morphology	5286	PIK3C2A	ORPHA:557003
HP:0012443	Abnormality of brain morphology	2776	GNAQ	ORPHA:3205
HP:0012443	Abnormality of brain morphology	4860	PNP	ORPHA:760
HP:0012443	Abnormality of brain morphology	4615	MYD88	ORPHA:33226
HP:0012443	Abnormality of brain morphology	4878	NPPA	OMIM:615745
HP:0012443	Abnormality of brain morphology	1373	CPS1	OMIM:237300
HP:0012443	Abnormality of brain morphology	7535	ZAP70	ORPHA:911
HP:0012443	Abnormality of brain morphology	7046	TGFBR1	ORPHA:91387
HP:0012443	Abnormality of brain morphology	7048	TGFBR2	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4015	LOX	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4087	SMAD2	ORPHA:91387
HP:0012443	Abnormality of brain morphology	7043	TGFB3	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4088	SMAD3	ORPHA:91387
HP:0012443	Abnormality of brain morphology	7042	TGFB2	ORPHA:91387
HP:0012443	Abnormality of brain morphology	2200	FBN1	ORPHA:91387
HP:0012443	Abnormality of brain morphology	59	ACTA2	ORPHA:91387
HP:0012443	Abnormality of brain morphology	5592	PRKG1	ORPHA:91387
HP:0012443	Abnormality of brain morphology	2301	FOXE3	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4144	MAT2A	ORPHA:91387
HP:0012443	Abnormality of brain morphology	23493	HEY2	ORPHA:91387
HP:0012443	Abnormality of brain morphology	8076	MFAP5	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4638	MYLK	ORPHA:91387
HP:0012443	Abnormality of brain morphology	4594	MMUT	ORPHA:79312
HP:0012443	Abnormality of brain morphology	25978	CHMP2B	ORPHA:100070
HP:0012443	Abnormality of brain morphology	5663	PSEN1	ORPHA:100070
HP:0012443	Abnormality of brain morphology	2896	GRN	ORPHA:100070
HP:0012443	Abnormality of brain morphology	54664	TMEM106B	ORPHA:100070
HP:0012443	Abnormality of brain morphology	4137	MAPT	ORPHA:100070
HP:0012443	Abnormality of brain morphology	54209	TREM2	ORPHA:100070
HP:0012443	Abnormality of brain morphology	7415	VCP	ORPHA:100070
HP:0012443	Abnormality of brain morphology	23417	MLYCD	OMIM:248360
HP:0012443	Abnormality of brain morphology	10716	TBR1	OMIM:606053
HP:0012443	Abnormality of brain morphology	9508	ADAMTS3	ORPHA:2136
HP:0012443	Abnormality of brain morphology	147372	CCBE1	ORPHA:2136
HP:0012443	Abnormality of brain morphology	147372	CCBE1	OMIM:235510
HP:0012443	Abnormality of brain morphology	84978	FRMD5	OMIM:620094
HP:0012443	Abnormality of brain morphology	2108	ETFA	OMIM:231680
HP:0012443	Abnormality of brain morphology	2109	ETFB	OMIM:231680
HP:0012443	Abnormality of brain morphology	2110	ETFDH	OMIM:231680
HP:0012443	Abnormality of brain morphology	10804	GJB6	ORPHA:477
HP:0012443	Abnormality of brain morphology	2706	GJB2	ORPHA:477
HP:0012443	Abnormality of brain morphology	4927	NUP88	ORPHA:994
HP:0012443	Abnormality of brain morphology	4654	MYOD1	ORPHA:994
HP:0012443	Abnormality of brain morphology	5913	RAPSN	ORPHA:994
HP:0012443	Abnormality of brain morphology	285489	DOK7	ORPHA:994
HP:0012443	Abnormality of brain morphology	2121	EVC	OMIM:225500
HP:0012443	Abnormality of brain morphology	132884	EVC2	OMIM:225500
HP:0012443	Abnormality of brain morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012443	Abnormality of brain morphology	3784	KCNQ1	OMIM:130650
HP:0012443	Abnormality of brain morphology	10613	ERLIN1	ORPHA:401785
HP:0012443	Abnormality of brain morphology	10613	ERLIN1	OMIM:615681
HP:0012443	Abnormality of brain morphology	6609	SMPD1	ORPHA:77293
HP:0012443	Abnormality of brain morphology	84668	HYCC1	ORPHA:85163
HP:0012443	Abnormality of brain morphology	84668	HYCC1	OMIM:610532
HP:0012443	Abnormality of brain morphology	10483	SEC23B	ORPHA:201
HP:0012443	Abnormality of brain morphology	205717	USF3	ORPHA:201
HP:0012443	Abnormality of brain morphology	80331	DNAJC5	OMIM:162350
HP:0012443	Abnormality of brain morphology	113278	SLC52A3	OMIM:211530
HP:0012443	Abnormality of brain morphology	23241	PACS2	OMIM:618067
HP:0012443	Abnormality of brain morphology	22897	CEP164	OMIM:614845
HP:0012443	Abnormality of brain morphology	54974	THG1L	OMIM:618800
HP:0012443	Abnormality of brain morphology	2296	FOXC1	OMIM:602482
HP:0012443	Abnormality of brain morphology	2296	FOXC1	OMIM:601631
HP:0012443	Abnormality of brain morphology	57020	VPS35L	OMIM:619135
HP:0012443	Abnormality of brain morphology	79023	NUP37	OMIM:618179
HP:0012443	Abnormality of brain morphology	11253	MAN1B1	ORPHA:397941
HP:0012443	Abnormality of brain morphology	11253	MAN1B1	OMIM:614202
HP:0012443	Abnormality of brain morphology	85300	ATCAY	ORPHA:94122
HP:0012443	Abnormality of brain morphology	85300	ATCAY	OMIM:601238
HP:0012443	Abnormality of brain morphology	9474	ATG5	OMIM:617584
HP:0012443	Abnormality of brain morphology	29929	ALG6	ORPHA:79320
HP:0012443	Abnormality of brain morphology	51117	COQ4	OMIM:616276
HP:0012443	Abnormality of brain morphology	26007	TKFC	OMIM:618805
HP:0012443	Abnormality of brain morphology	7291	TWIST1	OMIM:617746
HP:0012443	Abnormality of brain morphology	55074	OXR1	OMIM:213000
HP:0012443	Abnormality of brain morphology	3070	HELLS	ORPHA:2268
HP:0012443	Abnormality of brain morphology	1789	DNMT3B	ORPHA:2268
HP:0012443	Abnormality of brain morphology	9841	ZBTB24	ORPHA:2268
HP:0012443	Abnormality of brain morphology	6938	TCF12	OMIM:615314
HP:0012443	Abnormality of brain morphology	412	STS	ORPHA:281090
HP:0012443	Abnormality of brain morphology	1908	EDN3	ORPHA:897
HP:0012443	Abnormality of brain morphology	1910	EDNRB	ORPHA:897
HP:0012443	Abnormality of brain morphology	2057	EPOR	OMIM:133100
HP:0012443	Abnormality of brain morphology	2132	EXT2	OMIM:616682
HP:0012443	Abnormality of brain morphology	2677	GGCX	OMIM:277450
HP:0012443	Abnormality of brain morphology	55654	TMEM127	OMIM:171300
HP:0012443	Abnormality of brain morphology	55654	TMEM127	ORPHA:29072
HP:0012443	Abnormality of brain morphology	5979	RET	OMIM:171300
HP:0012443	Abnormality of brain morphology	5979	RET	ORPHA:29072
HP:0012443	Abnormality of brain morphology	5979	RET	ORPHA:276621
HP:0012443	Abnormality of brain morphology	4149	MAX	OMIM:171300
HP:0012443	Abnormality of brain morphology	4149	MAX	ORPHA:29072
HP:0012443	Abnormality of brain morphology	1743	DLST	ORPHA:29072
HP:0012443	Abnormality of brain morphology	23095	KIF1B	ORPHA:29072
HP:0012443	Abnormality of brain morphology	8402	SLC25A11	ORPHA:29072
HP:0012443	Abnormality of brain morphology	54949	SDHAF2	ORPHA:29072
HP:0012443	Abnormality of brain morphology	6391	SDHC	ORPHA:29072
HP:0012443	Abnormality of brain morphology	2335	FN1	ORPHA:84090
HP:0012443	Abnormality of brain morphology	3075	CFH	ORPHA:244242
HP:0012443	Abnormality of brain morphology	3426	CFI	ORPHA:244242
HP:0012443	Abnormality of brain morphology	4179	CD46	ORPHA:244242
HP:0012443	Abnormality of brain morphology	101101692	HELLPAR	ORPHA:244242
HP:0012443	Abnormality of brain morphology	2165	F13B	ORPHA:331
HP:0012443	Abnormality of brain morphology	442721	LMOD2	OMIM:619897
HP:0012443	Abnormality of brain morphology	6773	STAT2	OMIM:618886
HP:0012443	Abnormality of brain morphology	2034	EPAS1	ORPHA:276621
HP:0012443	Abnormality of brain morphology	9103	FCGR2C	ORPHA:3002
HP:0012443	Abnormality of brain morphology	54658	UGT1A1	OMIM:218800
HP:0012443	Abnormality of brain morphology	54658	UGT1A1	OMIM:237900
HP:0012443	Abnormality of brain morphology	54658	UGT1A1	ORPHA:79234
HP:0012443	Abnormality of brain morphology	6007	RHD	OMIM:619462
HP:0012443	Abnormality of brain morphology	6611	SMS	ORPHA:3063
HP:0012443	Abnormality of brain morphology	51256	TBC1D7	OMIM:248000
HP:0012443	Abnormality of brain morphology	8738	CRADD	OMIM:614499
HP:0012443	Abnormality of brain morphology	443	ASPA	ORPHA:314911
HP:0012443	Abnormality of brain morphology	3199	HOXA2	ORPHA:83463
HP:0012443	Abnormality of brain morphology	9723	SEMA3E	ORPHA:138
HP:0012443	Abnormality of brain morphology	5925	RB1	ORPHA:1587
HP:0012443	Abnormality of brain morphology	5274	SERPINI1	OMIM:604218
HP:0012443	Abnormality of brain morphology	1497	CTNS	OMIM:219800
HP:0012443	Abnormality of brain morphology	199857	ALG14	OMIM:619036
HP:0012443	Abnormality of brain morphology	5723	PSPH	OMIM:614023
HP:0012443	Abnormality of brain morphology	162	AP1B1	OMIM:242150
HP:0012443	Abnormality of brain morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012443	Abnormality of brain morphology	5105	PCK1	OMIM:261680
HP:0012443	Abnormality of brain morphology	55037	PTCD3	OMIM:619057
HP:0012443	Abnormality of brain morphology	8772	FADD	OMIM:613759
HP:0012443	Abnormality of brain morphology	8772	FADD	ORPHA:306550
HP:0012443	Abnormality of brain morphology	5095	PCCA	OMIM:606054
HP:0012443	Abnormality of brain morphology	5096	PCCB	OMIM:606054
HP:0012443	Abnormality of brain morphology	5833	PCYT2	OMIM:618770
HP:0012443	Abnormality of brain morphology	5826	ABCD4	OMIM:614857
HP:0012443	Abnormality of brain morphology	10056	FARSB	OMIM:613658
HP:0012443	Abnormality of brain morphology	26100	WIPI2	OMIM:618453
HP:0012443	Abnormality of brain morphology	10533	ATG7	OMIM:619422
HP:0012443	Abnormality of brain morphology	6309	SC5D	OMIM:607330
HP:0012443	Abnormality of brain morphology	7167	TPI1	OMIM:615512
HP:0012443	Abnormality of brain morphology	132	ADK	OMIM:614300
HP:0012443	Abnormality of brain morphology	54822	TRPM7	OMIM:105500
HP:0012443	Abnormality of brain morphology	127833	SYT2	OMIM:619461
HP:0012443	Abnormality of brain morphology	84896	ATAD1	OMIM:618011
HP:0012443	Abnormality of brain morphology	175	AGA	OMIM:208400
HP:0012443	Abnormality of brain morphology	4548	MTR	OMIM:250940
HP:0012443	Abnormality of brain morphology	8943	AP3D1	OMIM:617050
HP:0012443	Abnormality of brain morphology	57003	CCDC47	OMIM:618268
HP:0012443	Abnormality of brain morphology	51095	TRNT1	OMIM:616084
HP:0012443	Abnormality of brain morphology	2517	FUCA1	OMIM:230000
HP:0012443	Abnormality of brain morphology	23040	MYT1L	OMIM:616521
HP:0012443	Abnormality of brain morphology	3704	ITPA	OMIM:616647
HP:0012443	Abnormality of brain morphology	203228	C9orf72	OMIM:105550
HP:0012443	Abnormality of brain morphology	2760	GM2A	ORPHA:309246
HP:0012443	Abnormality of brain morphology	2760	GM2A	OMIM:272750
HP:0012443	Abnormality of brain morphology	440138	ALG11	ORPHA:280071
HP:0012443	Abnormality of brain morphology	51715	RAB23	OMIM:201000
HP:0012443	Abnormality of brain morphology	10084	PQBP1	OMIM:309500
HP:0012443	Abnormality of brain morphology	54802	TRIT1	OMIM:617873
HP:0012443	Abnormality of brain morphology	26503	SLC17A5	OMIM:269920
HP:0012443	Abnormality of brain morphology	10274	STAG1	OMIM:617635
HP:0012443	Abnormality of brain morphology	2733	GLE1	OMIM:611890
HP:0012443	Abnormality of brain morphology	22868	FASTKD2	OMIM:618855
HP:0012443	Abnormality of brain morphology	2138	EYA1	OMIM:113650
HP:0012443	Abnormality of brain morphology	6495	SIX1	OMIM:113650
HP:0012443	Abnormality of brain morphology	10128	LRPPRC	ORPHA:70472
HP:0012443	Abnormality of brain morphology	8036	SHOC2	OMIM:607721
HP:0012443	Abnormality of brain morphology	10617	STAMBP	OMIM:614261
HP:0012443	Abnormality of brain morphology	104	ADARB1	OMIM:618862
HP:0012443	Abnormality of brain morphology	166378	AFG2A	OMIM:616577
HP:0012443	Abnormality of brain morphology	6844	VAMP2	OMIM:618760
HP:0012443	Abnormality of brain morphology	1656	DDX6	OMIM:618653
HP:0012443	Abnormality of brain morphology	91574	MTRFR	OMIM:615035
HP:0012443	Abnormality of brain morphology	91574	MTRFR	ORPHA:320375
HP:0012443	Abnormality of brain morphology	91574	MTRFR	ORPHA:254930
HP:0012443	Abnormality of brain morphology	8558	CDK10	OMIM:617694
HP:0012443	Abnormality of brain morphology	253959	RALGAPA1	OMIM:618797
HP:0012443	Abnormality of brain morphology	51098	IFT52	OMIM:617102
HP:0012443	Abnormality of brain morphology	4849	CNOT3	OMIM:618672
HP:0012443	Abnormality of brain morphology	79971	WLS	OMIM:619648
HP:0012443	Abnormality of brain morphology	7841	MOGS	ORPHA:79330
HP:0012443	Abnormality of brain morphology	7841	MOGS	OMIM:606056
HP:0012443	Abnormality of brain morphology	51062	ATL1	OMIM:182600
HP:0012443	Abnormality of brain morphology	7040	TGFB1	OMIM:618213
HP:0012443	Abnormality of brain morphology	51013	EXOSC1	OMIM:619304
HP:0012443	Abnormality of brain morphology	10765	KDM5B	OMIM:618109
HP:0012443	Abnormality of brain morphology	10564	ARFGEF2	OMIM:608097
HP:0012443	Abnormality of brain morphology	2671	GFER	ORPHA:330054
HP:0012443	Abnormality of brain morphology	11160	ERLIN2	ORPHA:209951
HP:0012443	Abnormality of brain morphology	11160	ERLIN2	OMIM:611225
HP:0012443	Abnormality of brain morphology	5631	PRPS1	ORPHA:423479
HP:0012443	Abnormality of brain morphology	2560	GABRB1	OMIM:617153
HP:0012443	Abnormality of brain morphology	201163	FLCN	OMIM:610883
HP:0012443	Abnormality of brain morphology	80185	TTI2	ORPHA:391307
HP:0012443	Abnormality of brain morphology	84265	POLR3GL	OMIM:619234
HP:0012443	Abnormality of brain morphology	285590	SH3PXD2B	OMIM:249420
HP:0012443	Abnormality of brain morphology	8911	CACNA1I	OMIM:620114
HP:0012443	Abnormality of brain morphology	6748	SSR4	ORPHA:370927
HP:0012443	Abnormality of brain morphology	6748	SSR4	OMIM:300934
HP:0012443	Abnormality of brain morphology	89970	RSPRY1	ORPHA:457395
HP:0012443	Abnormality of brain morphology	84842	HPDL	OMIM:619026
HP:0012443	Abnormality of brain morphology	3480	IGF1R	OMIM:270450
HP:0012443	Abnormality of brain morphology	6095	RORA	OMIM:618060
HP:0012443	Abnormality of brain morphology	6535	SLC6A8	OMIM:300352
HP:0012443	Abnormality of brain morphology	57176	VARS2	OMIM:615917
HP:0012443	Abnormality of brain morphology	80222	TARS2	OMIM:615918
HP:0012443	Abnormality of brain morphology	57531	HACE1	ORPHA:464282
HP:0012443	Abnormality of brain morphology	57531	HACE1	OMIM:616756
HP:0012443	Abnormality of brain morphology	54496	PRMT7	ORPHA:464288
HP:0012443	Abnormality of brain morphology	149371	EXOC8	OMIM:619076
HP:0012443	Abnormality of brain morphology	27286	SRPX2	ORPHA:163721
HP:0012443	Abnormality of brain morphology	285175	UNC80	OMIM:616801
HP:0012443	Abnormality of brain morphology	285175	UNC80	ORPHA:371364
HP:0012443	Abnormality of brain morphology	5591	PRKDC	OMIM:615966
HP:0012443	Abnormality of brain morphology	4677	NARS1	OMIM:619091
HP:0012443	Abnormality of brain morphology	85440	DOCK7	OMIM:615859
HP:0012443	Abnormality of brain morphology	85440	DOCK7	ORPHA:411986
HP:0012443	Abnormality of brain morphology	57165	GJC2	OMIM:613206
HP:0012443	Abnormality of brain morphology	23028	KDM1A	OMIM:616728
HP:0012443	Abnormality of brain morphology	23028	KDM1A	ORPHA:477993
HP:0012443	Abnormality of brain morphology	51218	GLRX5	OMIM:616859
HP:0012443	Abnormality of brain morphology	5053	PAH	ORPHA:2209
HP:0012443	Abnormality of brain morphology	27315	PGAP2	OMIM:614207
HP:0012443	Abnormality of brain morphology	9419	CRIPT	OMIM:615789
HP:0012443	Abnormality of brain morphology	340075	ARSI	ORPHA:401815
HP:0012443	Abnormality of brain morphology	29957	SLC25A24	OMIM:612289
HP:0012443	Abnormality of brain morphology	54880	BCOR	OMIM:300166
HP:0012443	Abnormality of brain morphology	51124	IER3IP1	OMIM:614231
HP:0012443	Abnormality of brain morphology	2806	GOT2	OMIM:618721
HP:0012443	Abnormality of brain morphology	51663	ZFR	ORPHA:401840
HP:0012443	Abnormality of brain morphology	1468	SLC25A10	OMIM:618972
HP:0012443	Abnormality of brain morphology	5307	PITX1	OMIM:119800
HP:0012443	Abnormality of brain morphology	55331	ACER3	OMIM:617762
HP:0012443	Abnormality of brain morphology	10844	TUBGCP2	OMIM:618737
HP:0012443	Abnormality of brain morphology	2137	EXTL3	ORPHA:508533
HP:0012443	Abnormality of brain morphology	23394	ADNP	ORPHA:404448
HP:0012443	Abnormality of brain morphology	23394	ADNP	OMIM:615873
HP:0012443	Abnormality of brain morphology	4893	NRAS	ORPHA:2612
HP:0012443	Abnormality of brain morphology	22800	RRAS2	OMIM:618624
HP:0012443	Abnormality of brain morphology	3008	H1-4	OMIM:617537
HP:0012443	Abnormality of brain morphology	2720	GLB1	OMIM:230600
HP:0012443	Abnormality of brain morphology	2720	GLB1	OMIM:230650
HP:0012443	Abnormality of brain morphology	1788	DNMT3A	ORPHA:404443
HP:0012443	Abnormality of brain morphology	1788	DNMT3A	OMIM:615879
HP:0012443	Abnormality of brain morphology	6662	SOX9	ORPHA:140
HP:0012443	Abnormality of brain morphology	6536	SLC6A9	OMIM:617301
HP:0012443	Abnormality of brain morphology	55159	RFWD3	OMIM:617784
HP:0012443	Abnormality of brain morphology	55159	RFWD3	ORPHA:84
HP:0012443	Abnormality of brain morphology	55790	CSGALNACT1	OMIM:618870
HP:0012443	Abnormality of brain morphology	51111	KMT5B	OMIM:617788
HP:0012443	Abnormality of brain morphology	10730	YME1L1	OMIM:617302
HP:0012443	Abnormality of brain morphology	137492	VPS37A	ORPHA:319199
HP:0012443	Abnormality of brain morphology	23250	ATP11A	OMIM:619851
HP:0012443	Abnormality of brain morphology	113189	CHST14	ORPHA:2953
HP:0012443	Abnormality of brain morphology	113189	CHST14	OMIM:601776
HP:0012443	Abnormality of brain morphology	29940	DSE	ORPHA:2953
HP:0012443	Abnormality of brain morphology	2261	FGFR3	ORPHA:1860
HP:0012443	Abnormality of brain morphology	2261	FGFR3	ORPHA:93274
HP:0012443	Abnormality of brain morphology	2261	FGFR3	OMIM:187601
HP:0012443	Abnormality of brain morphology	5155	PDGFB	ORPHA:1980
HP:0012443	Abnormality of brain morphology	9213	XPR1	ORPHA:1980
HP:0012443	Abnormality of brain morphology	5159	PDGFRB	ORPHA:1980
HP:0012443	Abnormality of brain morphology	57462	MYORG	ORPHA:1980
HP:0012443	Abnormality of brain morphology	6575	SLC20A2	ORPHA:1980
HP:0012443	Abnormality of brain morphology	58494	JAM2	ORPHA:1980
HP:0012443	Abnormality of brain morphology	5442	POLRMT	OMIM:619743
HP:0012443	Abnormality of brain morphology	3340	NDST1	OMIM:616116
HP:0012443	Abnormality of brain morphology	54	ACP5	ORPHA:1855
HP:0012443	Abnormality of brain morphology	1499	CTNNB1	ORPHA:404473
HP:0012443	Abnormality of brain morphology	131405	TRIM71	OMIM:618667
HP:0012443	Abnormality of brain morphology	2203	FBP1	ORPHA:348
HP:0012443	Abnormality of brain morphology	26137	ZBTB20	OMIM:259050
HP:0012443	Abnormality of brain morphology	30813	VSX1	OMIM:614195
HP:0012443	Abnormality of brain morphology	7358	UGDH	OMIM:618792
HP:0012443	Abnormality of brain morphology	6925	TCF4	OMIM:610954
HP:0012443	Abnormality of brain morphology	4208	MEF2C	ORPHA:228384
HP:0012443	Abnormality of brain morphology	4208	MEF2C	OMIM:613443
HP:0012443	Abnormality of brain morphology	55739	NAXD	OMIM:618321
HP:0012443	Abnormality of brain morphology	4123	MAN2C1	OMIM:619775
HP:0012443	Abnormality of brain morphology	85365	ALG2	OMIM:607906
HP:0012443	Abnormality of brain morphology	84168	ANTXR1	OMIM:230740
HP:0012443	Abnormality of brain morphology	23219	FBXO28	OMIM:619777
HP:0012443	Abnormality of brain morphology	1107	CHD3	OMIM:618205
HP:0012443	Abnormality of brain morphology	23189	KANK1	OMIM:612900
HP:0012443	Abnormality of brain morphology	51322	WAC	ORPHA:466950
HP:0012443	Abnormality of brain morphology	51322	WAC	ORPHA:284169
HP:0012443	Abnormality of brain morphology	9526	MPDU1	ORPHA:79323
HP:0012443	Abnormality of brain morphology	9526	MPDU1	OMIM:609180
HP:0012443	Abnormality of brain morphology	286204	CRB2	OMIM:219730
HP:0012443	Abnormality of brain morphology	25981	DNAH1	ORPHA:244
HP:0012443	Abnormality of brain morphology	115948	ODAD3	ORPHA:244
HP:0012443	Abnormality of brain morphology	54768	HYDIN	ORPHA:244
HP:0012443	Abnormality of brain morphology	352909	DNAAF3	ORPHA:244
HP:0012443	Abnormality of brain morphology	27148	STK36	ORPHA:244
HP:0012443	Abnormality of brain morphology	51314	NME8	ORPHA:244
HP:0012443	Abnormality of brain morphology	92749	DRC1	ORPHA:244
HP:0012443	Abnormality of brain morphology	54970	TTC12	ORPHA:244
HP:0012443	Abnormality of brain morphology	152110	NEK10	ORPHA:244
HP:0012443	Abnormality of brain morphology	2302	FOXJ1	ORPHA:244
HP:0012443	Abnormality of brain morphology	221421	RSPH9	ORPHA:244
HP:0012443	Abnormality of brain morphology	85478	CCDC65	ORPHA:244
HP:0012443	Abnormality of brain morphology	55036	CCDC40	ORPHA:244
HP:0012443	Abnormality of brain morphology	51364	ZMYND10	ORPHA:244
HP:0012443	Abnormality of brain morphology	64446	DNAI2	ORPHA:244
HP:0012443	Abnormality of brain morphology	6674	SPAG1	ORPHA:244
HP:0012443	Abnormality of brain morphology	83544	DNAL1	ORPHA:244
HP:0012443	Abnormality of brain morphology	89765	RSPH1	ORPHA:244
HP:0012443	Abnormality of brain morphology	83538	ODAD4	ORPHA:244
HP:0012443	Abnormality of brain morphology	200373	CFAP221	ORPHA:244
HP:0012443	Abnormality of brain morphology	374407	DNAJB13	ORPHA:244
HP:0012443	Abnormality of brain morphology	55172	DNAAF2	ORPHA:244
HP:0012443	Abnormality of brain morphology	161582	DNAAF4	ORPHA:244
HP:0012443	Abnormality of brain morphology	2622	GAS8	ORPHA:244
HP:0012443	Abnormality of brain morphology	23639	DNAAF11	ORPHA:244
HP:0012443	Abnormality of brain morphology	27019	DNAI1	ORPHA:244
HP:0012443	Abnormality of brain morphology	345895	RSPH4A	ORPHA:244
HP:0012443	Abnormality of brain morphology	54919	DNAAF5	ORPHA:244
HP:0012443	Abnormality of brain morphology	6103	RPGR	ORPHA:244
HP:0012443	Abnormality of brain morphology	388389	CCDC103	ORPHA:244
HP:0012443	Abnormality of brain morphology	93233	ODAD1	ORPHA:244
HP:0012443	Abnormality of brain morphology	55130	ODAD2	ORPHA:244
HP:0012443	Abnormality of brain morphology	1767	DNAH5	ORPHA:244
HP:0012443	Abnormality of brain morphology	83861	RSPH3	ORPHA:244
HP:0012443	Abnormality of brain morphology	345643	MCIDAS	ORPHA:244
HP:0012443	Abnormality of brain morphology	56683	CFAP298	ORPHA:244
HP:0012443	Abnormality of brain morphology	79925	SPEF2	ORPHA:244
HP:0012443	Abnormality of brain morphology	10309	CCNO	ORPHA:244
HP:0012443	Abnormality of brain morphology	115399	LRRC56	ORPHA:244
HP:0012443	Abnormality of brain morphology	139212	DNAAF6	ORPHA:244
HP:0012443	Abnormality of brain morphology	123872	DNAAF1	ORPHA:244
HP:0012443	Abnormality of brain morphology	85016	CFAP300	ORPHA:244
HP:0012443	Abnormality of brain morphology	339829	CCDC39	ORPHA:244
HP:0012443	Abnormality of brain morphology	8701	DNAH11	ORPHA:244
HP:0012443	Abnormality of brain morphology	1770	DNAH9	ORPHA:244
HP:0012443	Abnormality of brain morphology	246176	GAS2L2	ORPHA:244
HP:0012443	Abnormality of brain morphology	25970	SH2B1	ORPHA:261197
HP:0012443	Abnormality of brain morphology	9742	IFT140	OMIM:266920
HP:0012443	Abnormality of brain morphology	29968	PSAT1	OMIM:616038
HP:0012443	Abnormality of brain morphology	27429	HTRA2	OMIM:617248
HP:0012443	Abnormality of brain morphology	8803	SUCLA2	ORPHA:1933
HP:0012443	Abnormality of brain morphology	2639	GCDH	ORPHA:25
HP:0012443	Abnormality of brain morphology	9488	PIGB	OMIM:618580
HP:0012443	Abnormality of brain morphology	4728	NDUFS8	OMIM:618222
HP:0012443	Abnormality of brain morphology	30000	TNPO2	OMIM:619556
HP:0012443	Abnormality of brain morphology	54892	NCAPG2	OMIM:618460
HP:0012443	Abnormality of brain morphology	54517	PUS7	OMIM:618342
HP:0012443	Abnormality of brain morphology	92335	STRADA	ORPHA:500533
HP:0012443	Abnormality of brain morphology	92335	STRADA	OMIM:611087
HP:0012443	Abnormality of brain morphology	4967	OGDH	OMIM:203740
HP:0012443	Abnormality of brain morphology	10102	TSFM	OMIM:610505
HP:0012443	Abnormality of brain morphology	7681	MKRN3	OMIM:176270
HP:0012443	Abnormality of brain morphology	3653	IPW	OMIM:176270
HP:0012443	Abnormality of brain morphology	54551	MAGEL2	OMIM:176270
HP:0012443	Abnormality of brain morphology	54551	MAGEL2	ORPHA:398069
HP:0012443	Abnormality of brain morphology	54551	MAGEL2	ORPHA:98754
HP:0012443	Abnormality of brain morphology	54551	MAGEL2	ORPHA:177904
HP:0012443	Abnormality of brain morphology	54551	MAGEL2	ORPHA:177901
HP:0012443	Abnormality of brain morphology	791114	PWRN1	OMIM:176270
HP:0012443	Abnormality of brain morphology	100033413	SNORD116-1	OMIM:176270
HP:0012443	Abnormality of brain morphology	8924	HERC2	OMIM:176270
HP:0012443	Abnormality of brain morphology	145624	PWAR1	OMIM:176270
HP:0012443	Abnormality of brain morphology	23742	NPAP1	OMIM:176270
HP:0012443	Abnormality of brain morphology	338433	SNORD115-1	OMIM:176270
HP:0012443	Abnormality of brain morphology	650	BMP2	ORPHA:261295
HP:0012443	Abnormality of brain morphology	57520	HECW2	OMIM:617268
HP:0012443	Abnormality of brain morphology	6492	SIM1	ORPHA:398079
HP:0012443	Abnormality of brain morphology	1654	DDX3X	ORPHA:457260
HP:0012443	Abnormality of brain morphology	1654	DDX3X	OMIM:300958
HP:0012443	Abnormality of brain morphology	23729	SHPK	ORPHA:440713
HP:0012443	Abnormality of brain morphology	5080	PAX6	ORPHA:137902
HP:0012443	Abnormality of brain morphology	5080	PAX6	OMIM:120200
HP:0012443	Abnormality of brain morphology	5660	PSAP	OMIM:611722
HP:0012443	Abnormality of brain morphology	4952	OCRL	ORPHA:534
HP:0012443	Abnormality of brain morphology	4952	OCRL	OMIM:309000
HP:0012443	Abnormality of brain morphology	3417	IDH1	ORPHA:99646
HP:0012443	Abnormality of brain morphology	79641	ROGDI	OMIM:226750
HP:0012443	Abnormality of brain morphology	8260	NAA10	OMIM:300855
HP:0012443	Abnormality of brain morphology	8260	NAA10	ORPHA:276432
HP:0012443	Abnormality of brain morphology	11274	USP18	OMIM:617397
HP:0012443	Abnormality of brain morphology	1108	CHD4	OMIM:617159
HP:0012443	Abnormality of brain morphology	191	AHCY	ORPHA:88618
HP:0012443	Abnormality of brain morphology	1760	DMPK	ORPHA:589821
HP:0012443	Abnormality of brain morphology	633	BGN	OMIM:300989
HP:0012443	Abnormality of brain morphology	51300	TIMMDC1	OMIM:618251
HP:0012443	Abnormality of brain morphology	4700	NDUFA6	OMIM:618253
HP:0012443	Abnormality of brain morphology	8635	RNASET2	OMIM:612951
HP:0012443	Abnormality of brain morphology	6304	SATB1	OMIM:619229
HP:0012443	Abnormality of brain morphology	8883	NAE1	OMIM:620210
HP:0012443	Abnormality of brain morphology	79718	TBL1XR1	ORPHA:487825
HP:0012443	Abnormality of brain morphology	50801	KCNK4	OMIM:618381
HP:0012443	Abnormality of brain morphology	11212	PLPBP	OMIM:617290
HP:0012443	Abnormality of brain morphology	11212	PLPBP	ORPHA:3006
HP:0012443	Abnormality of brain morphology	51241	COX16	OMIM:619355
HP:0012443	Abnormality of brain morphology	57187	THOC2	OMIM:300957
HP:0012443	Abnormality of brain morphology	27107	ZBTB11	OMIM:618383
HP:0012443	Abnormality of brain morphology	6711	SPTBN1	OMIM:619475
HP:0012443	Abnormality of brain morphology	4983	OPHN1	ORPHA:137831
HP:0012443	Abnormality of brain morphology	4983	OPHN1	OMIM:300486
HP:0012443	Abnormality of brain morphology	80036	TRPM3	OMIM:620224
HP:0012443	Abnormality of brain morphology	2131	EXT1	ORPHA:502
HP:0012443	Abnormality of brain morphology	7227	TRPS1	ORPHA:502
HP:0012443	Abnormality of brain morphology	25839	COG4	OMIM:618150
HP:0012443	Abnormality of brain morphology	374354	NHLRC2	OMIM:618278
HP:0012443	Abnormality of brain morphology	128240	NAXE	OMIM:617186
HP:0012443	Abnormality of brain morphology	6472	SHMT2	OMIM:619121
HP:0012443	Abnormality of brain morphology	29123	ANKRD11	ORPHA:261250
HP:0012443	Abnormality of brain morphology	55252	ASXL2	OMIM:617190
HP:0012443	Abnormality of brain morphology	84231	TRAF7	OMIM:618164
HP:0012443	Abnormality of brain morphology	54187	NANS	OMIM:610442
HP:0012443	Abnormality of brain morphology	9897	WASHC5	ORPHA:7
HP:0012443	Abnormality of brain morphology	28952	CCDC22	ORPHA:7
HP:0012443	Abnormality of brain morphology	57538	ALPK3	OMIM:618052
HP:0012443	Abnormality of brain morphology	5138	PDE2A	OMIM:619150
HP:0012443	Abnormality of brain morphology	2294	FOXF1	OMIM:265380
HP:0012443	Abnormality of brain morphology	8450	CUL4B	OMIM:300354
HP:0012443	Abnormality of brain morphology	83700	JAM3	OMIM:613730
HP:0012443	Abnormality of brain morphology	80232	WDR26	ORPHA:513456
HP:0012443	Abnormality of brain morphology	80232	WDR26	OMIM:617616
HP:0012443	Abnormality of brain morphology	89910	UBE3B	OMIM:244450
HP:0012443	Abnormality of brain morphology	2314	FLII	ORPHA:819
HP:0012443	Abnormality of brain morphology	23096	IQSEC2	ORPHA:819
HP:0012443	Abnormality of brain morphology	10743	RAI1	ORPHA:819
HP:0012443	Abnormality of brain morphology	10743	RAI1	OMIM:182290
HP:0012443	Abnormality of brain morphology	10522	DEAF1	ORPHA:819
HP:0012443	Abnormality of brain morphology	10000	AKT3	ORPHA:99802
HP:0012443	Abnormality of brain morphology	10000	AKT3	OMIM:615937
HP:0012443	Abnormality of brain morphology	1340	COX6B1	OMIM:619051
HP:0012443	Abnormality of brain morphology	2892	GRIA3	OMIM:300699
HP:0012443	Abnormality of brain morphology	1351	COX8A	OMIM:619059
HP:0012443	Abnormality of brain morphology	3899	AFF3	OMIM:619297
HP:0012443	Abnormality of brain morphology	894	CCND2	OMIM:615938
HP:0012443	Abnormality of brain morphology	9570	GOSR2	OMIM:620166
HP:0012443	Abnormality of brain morphology	672	BRCA1	ORPHA:84
HP:0012443	Abnormality of brain morphology	10459	MAD2L2	ORPHA:84
HP:0012443	Abnormality of brain morphology	7516	XRCC2	ORPHA:84
HP:0012443	Abnormality of brain morphology	29089	UBE2T	ORPHA:84
HP:0012443	Abnormality of brain morphology	675	BRCA2	ORPHA:84
HP:0012443	Abnormality of brain morphology	55120	FANCL	ORPHA:84
HP:0012443	Abnormality of brain morphology	2175	FANCA	ORPHA:84
HP:0012443	Abnormality of brain morphology	2176	FANCC	ORPHA:84
HP:0012443	Abnormality of brain morphology	2178	FANCE	ORPHA:84
HP:0012443	Abnormality of brain morphology	2188	FANCF	ORPHA:84
HP:0012443	Abnormality of brain morphology	2189	FANCG	ORPHA:84
HP:0012443	Abnormality of brain morphology	5889	RAD51C	ORPHA:84
HP:0012443	Abnormality of brain morphology	83990	BRIP1	ORPHA:84
HP:0012443	Abnormality of brain morphology	57697	FANCM	ORPHA:84
HP:0012443	Abnormality of brain morphology	79728	PALB2	ORPHA:84
HP:0012443	Abnormality of brain morphology	84464	SLX4	ORPHA:84
HP:0012443	Abnormality of brain morphology	501	ALDH7A1	ORPHA:3006
HP:0012443	Abnormality of brain morphology	9184	BUB3	ORPHA:1052
HP:0012443	Abnormality of brain morphology	9702	CEP57	ORPHA:1052
HP:0012443	Abnormality of brain morphology	9319	TRIP13	ORPHA:1052
HP:0012443	Abnormality of brain morphology	23036	ZNF292	OMIM:619188
HP:0012443	Abnormality of brain morphology	4591	TRIM37	OMIM:253250
HP:0012443	Abnormality of brain morphology	4338	MOCS2	OMIM:252160
HP:0012443	Abnormality of brain morphology	79753	SNIP1	OMIM:614501
HP:0012443	Abnormality of brain morphology	84720	PIGO	OMIM:614749
HP:0012443	Abnormality of brain morphology	58508	KMT2C	ORPHA:261652
HP:0012443	Abnormality of brain morphology	10436	EMG1	ORPHA:1270
HP:0012443	Abnormality of brain morphology	5340	PLG	OMIM:217090
HP:0012443	Abnormality of brain morphology	4692	NDN	ORPHA:98754
HP:0012443	Abnormality of brain morphology	4692	NDN	ORPHA:177904
HP:0012443	Abnormality of brain morphology	4692	NDN	ORPHA:177901
HP:0012443	Abnormality of brain morphology	4948	OCA2	ORPHA:98754
HP:0012443	Abnormality of brain morphology	4948	OCA2	ORPHA:177904
HP:0012443	Abnormality of brain morphology	4948	OCA2	ORPHA:177901
HP:0012443	Abnormality of brain morphology	23483	TGDS	ORPHA:1388
HP:0012443	Abnormality of brain morphology	440193	CCDC88C	OMIM:236600
HP:0012443	Abnormality of brain morphology	2146	EZH2	OMIM:277590
HP:0012443	Abnormality of brain morphology	10682	EBP	OMIM:302960
HP:0012443	Abnormality of brain morphology	10664	CTCF	OMIM:615502
HP:0012443	Abnormality of brain morphology	10664	CTCF	ORPHA:363611
HP:0012443	Abnormality of brain morphology	90417	KNSTRN	OMIM:613328
HP:0012443	Abnormality of brain morphology	90417	KNSTRN	ORPHA:221139
HP:0012443	Abnormality of brain morphology	5293	PIK3CD	OMIM:613328
HP:0012443	Abnormality of brain morphology	5293	PIK3CD	ORPHA:221139
HP:0012443	Abnormality of brain morphology	27152	INTU	OMIM:617926
HP:0012443	Abnormality of brain morphology	10075	HUWE1	OMIM:309590
HP:0012443	Abnormality of brain morphology	55906	ZC4H2	OMIM:301041
HP:0012443	Abnormality of brain morphology	26160	IFT172	OMIM:615630
HP:0012443	Abnormality of brain morphology	11133	KPTN	OMIM:615637
HP:0012443	Abnormality of brain morphology	1729	DIAPH1	ORPHA:2573
HP:0012443	Abnormality of brain morphology	57674	RNF213	ORPHA:2573
HP:0012443	Abnormality of brain morphology	50943	FOXP3	OMIM:304790
HP:0012443	Abnormality of brain morphology	57526	PCDH19	OMIM:300088
HP:0012443	Abnormality of brain morphology	5859	QARS1	OMIM:615760
HP:0012443	Abnormality of brain morphology	10982	MAPRE2	OMIM:616734
HP:0012443	Abnormality of brain morphology	101929726	MYMX	ORPHA:1358
HP:0012443	Abnormality of brain morphology	23511	NUP188	OMIM:618804
HP:0012443	Abnormality of brain morphology	10943	MSL3	OMIM:301032
HP:0012443	Abnormality of brain morphology	8985	PLOD3	OMIM:612394
HP:0012443	Abnormality of brain morphology	81689	ISCA1	OMIM:617613
HP:0012443	Abnormality of brain morphology	4337	MOCS1	OMIM:252150
HP:0012443	Abnormality of brain morphology	8936	WASF1	OMIM:618707
HP:0012443	Abnormality of brain morphology	112752	IFT43	OMIM:617866
HP:0012443	Abnormality of brain morphology	10293	TRAIP	OMIM:616777
HP:0012443	Abnormality of brain morphology	202018	TAPT1	OMIM:616897
HP:0012443	Abnormality of brain morphology	5296	PIK3R2	OMIM:603387
HP:0012443	Abnormality of brain morphology	7518	XRCC4	OMIM:616541
HP:0012443	Abnormality of brain morphology	440	ASNS	OMIM:615574
HP:0012443	Abnormality of brain morphology	1284	COL4A2	OMIM:614483
HP:0012443	Abnormality of brain morphology	1968	EIF2S3	OMIM:300148
HP:0012443	Abnormality of brain morphology	84148	KAT8	OMIM:618974
HP:0012443	Abnormality of brain morphology	3852	KRT5	ORPHA:79396
HP:0012443	Abnormality of brain morphology	3861	KRT14	ORPHA:79396
HP:0012443	Abnormality of brain morphology	246329	STAC3	OMIM:255995
HP:0012443	Abnormality of brain morphology	1183	CLCN4	OMIM:300114
HP:0012443	Abnormality of brain morphology	1183	CLCN4	ORPHA:485350
HP:0012443	Abnormality of brain morphology	400916	CHCHD10	OMIM:615911
HP:0012443	Abnormality of brain morphology	7360	UGP2	OMIM:618744
HP:0012443	Abnormality of brain morphology	145173	B3GLCT	ORPHA:709
HP:0012443	Abnormality of brain morphology	5457	POU4F1	ORPHA:314647
HP:0012443	Abnormality of brain morphology	23261	CAMTA1	ORPHA:314647
HP:0012443	Abnormality of brain morphology	23261	CAMTA1	OMIM:614756
HP:0012443	Abnormality of brain morphology	8496	PPFIBP1	OMIM:620024
HP:0012443	Abnormality of brain morphology	51112	TRAPPC12	ORPHA:500144
HP:0012443	Abnormality of brain morphology	51112	TRAPPC12	OMIM:617669
HP:0012443	Abnormality of brain morphology	54968	TMEM70	ORPHA:1194
HP:0012443	Abnormality of brain morphology	3020	H3-3A	OMIM:619720
HP:0012443	Abnormality of brain morphology	387787	LIPT2	OMIM:617668
HP:0012443	Abnormality of brain morphology	57582	KCNT1	OMIM:614959
HP:0012443	Abnormality of brain morphology	10978	CLP1	OMIM:615803
HP:0012443	Abnormality of brain morphology	79158	GNPTAB	OMIM:252500
HP:0012443	Abnormality of brain morphology	271	AMPD2	OMIM:615809
HP:0012443	Abnormality of brain morphology	5189	PEX1	OMIM:214100
HP:0012443	Abnormality of brain morphology	55650	PIGV	OMIM:239300
HP:0012443	Abnormality of brain morphology	2192	FBLN1	ORPHA:404451
HP:0012443	Abnormality of brain morphology	348	APOE	OMIM:607822
HP:0012443	Abnormality of brain morphology	51360	MBTPS2	ORPHA:2273
HP:0012443	Abnormality of brain morphology	5832	ALDH18A1	OMIM:616586
HP:0012443	Abnormality of brain morphology	5832	ALDH18A1	ORPHA:447760
HP:0012443	Abnormality of brain morphology	91869	RFT1	ORPHA:244310
HP:0012443	Abnormality of brain morphology	3845	KRAS	ORPHA:2396
HP:0012443	Abnormality of brain morphology	3845	KRAS	ORPHA:1340
HP:0012443	Abnormality of brain morphology	2018	EMX2	OMIM:269160
HP:0012443	Abnormality of brain morphology	6469	SHH	OMIM:269160
HP:0012443	Abnormality of brain morphology	5191	PEX7	OMIM:215100
HP:0012443	Abnormality of brain morphology	652	BMP4	OMIM:607932
HP:0012443	Abnormality of brain morphology	132158	GLYCTK	OMIM:220120
HP:0012443	Abnormality of brain morphology	10347	ABCA7	OMIM:608907
HP:0012443	Abnormality of brain morphology	10347	ABCA7	ORPHA:1020
HP:0012443	Abnormality of brain morphology	80208	SPG11	ORPHA:2822
HP:0012443	Abnormality of brain morphology	80208	SPG11	OMIM:604360
HP:0012443	Abnormality of brain morphology	23230	VPS13A	ORPHA:2388
HP:0012443	Abnormality of brain morphology	4582	MUC1	OMIM:174000
HP:0012443	Abnormality of brain morphology	9487	PIGL	ORPHA:3474
HP:0012443	Abnormality of brain morphology	57338	JPH3	ORPHA:98934
HP:0012443	Abnormality of brain morphology	57338	JPH3	OMIM:606438
HP:0012443	Abnormality of brain morphology	699	BUB1	OMIM:620183
HP:0012443	Abnormality of brain morphology	1798	DPAGT1	ORPHA:86309
HP:0012443	Abnormality of brain morphology	3028	HSD17B10	OMIM:300438
HP:0012443	Abnormality of brain morphology	55699	IARS2	OMIM:616007
HP:0012443	Abnormality of brain morphology	11340	EXOSC8	ORPHA:2254
HP:0012443	Abnormality of brain morphology	11340	EXOSC8	OMIM:616081
HP:0012443	Abnormality of brain morphology	7443	VRK1	ORPHA:2254
HP:0012443	Abnormality of brain morphology	7443	VRK1	OMIM:607596
HP:0012443	Abnormality of brain morphology	5590	PRKCZ	ORPHA:1606
HP:0012443	Abnormality of brain morphology	2563	GABRD	ORPHA:1606
HP:0012443	Abnormality of brain morphology	23013	SPEN	ORPHA:1606
HP:0012443	Abnormality of brain morphology	8510	MMP23B	ORPHA:1606
HP:0012443	Abnormality of brain morphology	7798	LUZP1	ORPHA:1606
HP:0012443	Abnormality of brain morphology	6497	SKI	ORPHA:1606
HP:0012443	Abnormality of brain morphology	10630	PDPN	ORPHA:1606
HP:0012443	Abnormality of brain morphology	3339	HSPG2	ORPHA:1606
HP:0012443	Abnormality of brain morphology	10277	UBE4B	ORPHA:1606
HP:0012443	Abnormality of brain morphology	8514	KCNAB2	ORPHA:1606
HP:0012443	Abnormality of brain morphology	473	RERE	ORPHA:1606
HP:0012443	Abnormality of brain morphology	63976	PRDM16	ORPHA:1606
HP:0012443	Abnormality of brain morphology	54897	CASZ1	ORPHA:1606
HP:0012443	Abnormality of brain morphology	493856	CISD2	ORPHA:3463
HP:0012443	Abnormality of brain morphology	7466	WFS1	ORPHA:3463
HP:0012443	Abnormality of brain morphology	6638	SNRPN	OMIM:105830
HP:0012443	Abnormality of brain morphology	6638	SNRPN	ORPHA:177907
HP:0012443	Abnormality of brain morphology	7337	UBE3A	OMIM:105830
HP:0012443	Abnormality of brain morphology	55343	SLC35C1	OMIM:266265
HP:0012443	Abnormality of brain morphology	8517	IKBKG	ORPHA:464
HP:0012443	Abnormality of brain morphology	4644	MYO5A	ORPHA:33445
HP:0012443	Abnormality of brain morphology	51633	OTUD6B	ORPHA:505237
HP:0012443	Abnormality of brain morphology	4094	MAF	ORPHA:1272
HP:0012443	Abnormality of brain morphology	56098	PCDHGC4	OMIM:619880
HP:0012443	Abnormality of brain morphology	25973	PARS2	OMIM:618437
HP:0012443	Abnormality of brain morphology	54499	TMCO1	ORPHA:1394
HP:0012443	Abnormality of brain morphology	2558	GABRA5	OMIM:618559
HP:0012443	Abnormality of brain morphology	22906	TRAK1	OMIM:618201
HP:0012443	Abnormality of brain morphology	22930	RAB3GAP1	ORPHA:1387
HP:0012443	Abnormality of brain morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012443	Abnormality of brain morphology	25782	RAB3GAP2	ORPHA:1387
HP:0012443	Abnormality of brain morphology	25782	RAB3GAP2	ORPHA:401830
HP:0012443	Abnormality of brain morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012443	Abnormality of brain morphology	5664	PSEN2	ORPHA:1020
HP:0012443	Abnormality of brain morphology	10452	TOMM40	ORPHA:1020
HP:0012443	Abnormality of brain morphology	6653	SORL1	ORPHA:1020
HP:0012443	Abnormality of brain morphology	404672	GTF2H5	ORPHA:33364
HP:0012443	Abnormality of brain morphology	2068	ERCC2	ORPHA:33364
HP:0012443	Abnormality of brain morphology	2068	ERCC2	ORPHA:910
HP:0012443	Abnormality of brain morphology	2068	ERCC2	ORPHA:1466
HP:0012443	Abnormality of brain morphology	7737	RNF113A	ORPHA:33364
HP:0012443	Abnormality of brain morphology	136647	MPLKIP	ORPHA:33364
HP:0012443	Abnormality of brain morphology	136647	MPLKIP	OMIM:234050
HP:0012443	Abnormality of brain morphology	6897	TARS1	ORPHA:33364
HP:0012443	Abnormality of brain morphology	2961	GTF2E2	ORPHA:33364
HP:0012443	Abnormality of brain morphology	51750	RTEL1	ORPHA:3322
HP:0012443	Abnormality of brain morphology	65057	ACD	ORPHA:3322
HP:0012443	Abnormality of brain morphology	5073	PARN	ORPHA:3322
HP:0012443	Abnormality of brain morphology	7015	TERT	ORPHA:3322
HP:0012443	Abnormality of brain morphology	26277	TINF2	ORPHA:3322
HP:0012443	Abnormality of brain morphology	1736	DKC1	ORPHA:3322
HP:0012443	Abnormality of brain morphology	79053	ALG8	ORPHA:79325
HP:0012443	Abnormality of brain morphology	8295	TRRAP	OMIM:618454
HP:0012443	Abnormality of brain morphology	2583	B4GALNT1	OMIM:609195
HP:0012443	Abnormality of brain morphology	2583	B4GALNT1	ORPHA:101006
HP:0012443	Abnormality of brain morphology	57724	EPG5	ORPHA:1493
HP:0012443	Abnormality of brain morphology	7507	XPA	ORPHA:910
HP:0012443	Abnormality of brain morphology	7508	XPC	ORPHA:910
HP:0012443	Abnormality of brain morphology	1643	DDB2	ORPHA:910
HP:0012443	Abnormality of brain morphology	2072	ERCC4	ORPHA:910
HP:0012443	Abnormality of brain morphology	2073	ERCC5	ORPHA:910
HP:0012443	Abnormality of brain morphology	2073	ERCC5	ORPHA:1466
HP:0012443	Abnormality of brain morphology	4558	MT-TF	ORPHA:550
HP:0012443	Abnormality of brain morphology	4572	MT-TQ	ORPHA:550
HP:0012443	Abnormality of brain morphology	4512	MT-CO1	ORPHA:550
HP:0012443	Abnormality of brain morphology	4513	MT-CO2	ORPHA:550
HP:0012443	Abnormality of brain morphology	4514	MT-CO3	ORPHA:550
HP:0012443	Abnormality of brain morphology	4578	MT-TW	ORPHA:550
HP:0012443	Abnormality of brain morphology	4540	MT-ND5	ORPHA:550
HP:0012443	Abnormality of brain morphology	4541	MT-ND6	ORPHA:550
HP:0012443	Abnormality of brain morphology	4535	MT-ND1	ORPHA:550
HP:0012443	Abnormality of brain morphology	4538	MT-ND4	ORPHA:550
HP:0012443	Abnormality of brain morphology	4567	MT-TL1	ORPHA:550
HP:0012443	Abnormality of brain morphology	4574	MT-TS1	ORPHA:550
HP:0012443	Abnormality of brain morphology	4575	MT-TS2	ORPHA:550
HP:0012443	Abnormality of brain morphology	4564	MT-TH	ORPHA:550
HP:0012443	Abnormality of brain morphology	27238	GPKOW	ORPHA:2570
HP:0012443	Abnormality of brain morphology	54832	VPS13C	OMIM:616840
HP:0012443	Abnormality of brain morphology	55746	NUP133	OMIM:618349
HP:0012443	Abnormality of brain morphology	79813	EHMT1	ORPHA:96147
HP:0012443	Abnormality of brain morphology	57679	ALS2	OMIM:606353
HP:0012443	Abnormality of brain morphology	27249	MMADHC	OMIM:277410
HP:0012443	Abnormality of brain morphology	55630	SLC39A4	ORPHA:37
HP:0012443	Abnormality of brain morphology	8085	KMT2D	ORPHA:2322
HP:0012443	Abnormality of brain morphology	7403	KDM6A	ORPHA:2322
HP:0012443	Abnormality of brain morphology	10166	SLC25A15	ORPHA:415
HP:0012443	Abnormality of brain morphology	10166	SLC25A15	OMIM:238970
HP:0012443	Abnormality of brain morphology	23221	RHOBTB2	OMIM:618004
HP:0012443	Abnormality of brain morphology	8867	SYNJ1	OMIM:615530
HP:0012443	Abnormality of brain morphology	6928	HNF1B	OMIM:137920
HP:0012443	Abnormality of brain morphology	2067	ERCC1	ORPHA:1466
HP:0012443	Abnormality of brain morphology	2629	GBA1	ORPHA:411602
HP:0012443	Abnormality of brain morphology	23317	DNAJC13	ORPHA:411602
HP:0012443	Abnormality of brain morphology	1981	EIF4G1	ORPHA:411602
HP:0012443	Abnormality of brain morphology	55737	VPS35	ORPHA:411602
HP:0012443	Abnormality of brain morphology	120892	LRRK2	ORPHA:411602
HP:0012443	Abnormality of brain morphology	26058	GIGYF2	ORPHA:411602
HP:0012443	Abnormality of brain morphology	6622	SNCA	ORPHA:411602
HP:0012443	Abnormality of brain morphology	5604	MAP2K1	ORPHA:1340
HP:0012443	Abnormality of brain morphology	5605	MAP2K2	ORPHA:1340
HP:0012443	Abnormality of brain morphology	51608	GET4	OMIM:620200
HP:0012443	Abnormality of brain morphology	100506658	OCLN	ORPHA:1229
HP:0012443	Abnormality of brain morphology	3265	HRAS	ORPHA:3071
HP:0012443	Abnormality of brain morphology	9758	FRMPD4	OMIM:300983
HP:0012443	Abnormality of brain morphology	83696	TRAPPC9	ORPHA:352530
HP:0012443	Abnormality of brain morphology	26040	SETBP1	ORPHA:798
HP:0012443	Abnormality of brain morphology	23476	BRD4	ORPHA:199
HP:0012443	Abnormality of brain morphology	9126	SMC3	ORPHA:199
HP:0012443	Abnormality of brain morphology	8243	SMC1A	ORPHA:199
HP:0012443	Abnormality of brain morphology	25836	NIPBL	ORPHA:199
HP:0012443	Abnormality of brain morphology	55869	HDAC8	ORPHA:199
HP:0012443	Abnormality of brain morphology	7399	USH2A	ORPHA:231178
HP:0012443	Abnormality of brain morphology	79955	PDZD7	ORPHA:231178
HP:0012443	Abnormality of brain morphology	4647	MYO7A	ORPHA:231178
HP:0012443	Abnormality of brain morphology	4647	MYO7A	ORPHA:231169
HP:0012443	Abnormality of brain morphology	25861	WHRN	ORPHA:231178
HP:0012443	Abnormality of brain morphology	84059	ADGRV1	ORPHA:231178
HP:0012443	Abnormality of brain morphology	6197	RPS6KA3	ORPHA:192
HP:0012443	Abnormality of brain morphology	9150	CTDP1	ORPHA:48431
HP:0012443	Abnormality of brain morphology	22866	CNKSR2	OMIM:301008
HP:0012443	Abnormality of brain morphology	22931	RAB18	OMIM:614222
HP:0012443	Abnormality of brain morphology	22931	RAB18	ORPHA:2510
HP:0012443	Abnormality of brain morphology	7305	TYROBP	ORPHA:2770
HP:0012443	Abnormality of brain morphology	8905	AP1S2	ORPHA:1568
HP:0012443	Abnormality of brain morphology	10283	CWC27	ORPHA:166035
HP:0012443	Abnormality of brain morphology	80055	PGAP1	ORPHA:401820
HP:0012443	Abnormality of brain morphology	60558	GUF1	OMIM:617065
HP:0012443	Abnormality of brain morphology	2893	GRIA4	OMIM:617864
HP:0012443	Abnormality of brain morphology	3090	HIC1	ORPHA:531
HP:0012443	Abnormality of brain morphology	7531	YWHAE	ORPHA:531
HP:0012443	Abnormality of brain morphology	1716	DGUOK	OMIM:617070
HP:0012443	Abnormality of brain morphology	340533	NEXMIF	ORPHA:85277
HP:0012443	Abnormality of brain morphology	777	CACNA1E	OMIM:618285
HP:0012443	Abnormality of brain morphology	85378	TUBGCP6	ORPHA:2518
HP:0012443	Abnormality of brain morphology	27229	TUBGCP4	ORPHA:2518
HP:0012443	Abnormality of brain morphology	55005	RMND1	OMIM:614922
HP:0012443	Abnormality of brain morphology	4693	NDP	ORPHA:649
HP:0012443	Abnormality of brain morphology	4508	MT-ATP6	ORPHA:644
HP:0012443	Abnormality of brain morphology	71	ACTG1	ORPHA:2995
HP:0012443	Abnormality of brain morphology	60	ACTB	ORPHA:2995
HP:0012443	Abnormality of brain morphology	2801	GOLGA2	OMIM:620240
HP:0012443	Abnormality of brain morphology	23299	BICD2	OMIM:618291
HP:0012443	Abnormality of brain morphology	10083	USH1C	ORPHA:231169
HP:0012443	Abnormality of brain morphology	124590	USH1G	ORPHA:231169
HP:0012443	Abnormality of brain morphology	83715	ESPN	ORPHA:231169
HP:0012443	Abnormality of brain morphology	10518	CIB2	ORPHA:231169
HP:0012443	Abnormality of brain morphology	65217	PCDH15	ORPHA:231169
HP:0012443	Abnormality of brain morphology	116150	NUS1	OMIM:617082
HP:0012443	Abnormality of brain morphology	221692	PHACTR1	OMIM:618298
HP:0012443	Abnormality of brain morphology	4858	NOVA2	OMIM:618859
HP:0012443	Abnormality of brain morphology	29110	TBK1	OMIM:616439
HP:0012443	Abnormality of brain morphology	5052	PRDX1	OMIM:277400
HP:0012443	Abnormality of brain morphology	27183	VPS4A	OMIM:619273
HP:0012443	Abnormality of brain morphology	50814	NSDHL	ORPHA:251383
HP:0012443	Abnormality of brain morphology	50814	NSDHL	OMIM:300831
HP:0012443	Abnormality of brain morphology	2782	GNB1	ORPHA:488613
HP:0012443	Abnormality of brain morphology	2782	GNB1	OMIM:616973
HP:0012443	Abnormality of brain morphology	54931	TRMT10C	OMIM:616974
HP:0012443	Abnormality of brain morphology	5610	EIF2AK2	OMIM:618877
HP:0012443	Abnormality of brain morphology	55780	ERMARD	ORPHA:75857
HP:0012443	Abnormality of brain morphology	4131	MAP1B	OMIM:618918
HP:0012443	Abnormality of brain morphology	8131	NPRL3	ORPHA:98820
HP:0012443	Abnormality of brain morphology	10641	NPRL2	ORPHA:98820
HP:0012443	Abnormality of brain morphology	9681	DEPDC5	ORPHA:98820
HP:0012443	Abnormality of brain morphology	4330	MN1	OMIM:618774
HP:0012443	Abnormality of brain morphology	23327	NEDD4L	OMIM:617201
HP:0012443	Abnormality of brain morphology	200894	ARL13B	ORPHA:475
HP:0012443	Abnormality of brain morphology	9731	CEP104	ORPHA:475
HP:0012443	Abnormality of brain morphology	23247	KATNIP	ORPHA:475
HP:0012443	Abnormality of brain morphology	219854	TMEM218	ORPHA:475
HP:0012443	Abnormality of brain morphology	10464	PIBF1	ORPHA:475
HP:0012443	Abnormality of brain morphology	23116	TOGARAM1	ORPHA:475
HP:0012443	Abnormality of brain morphology	25776	CBY1	ORPHA:475
HP:0012443	Abnormality of brain morphology	403	ARL3	ORPHA:475
HP:0012443	Abnormality of brain morphology	112858	TP53RK	OMIM:617730
HP:0012443	Abnormality of brain morphology	23545	ATP6V0A2	OMIM:219200
HP:0012443	Abnormality of brain morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012443	Abnormality of brain morphology	2222	FDFT1	OMIM:618156
HP:0012443	Abnormality of brain morphology	3800	KIF5C	OMIM:615282
HP:0012443	Abnormality of brain morphology	79143	MBOAT7	OMIM:617188
HP:0012443	Abnormality of brain morphology	10319	LAMC3	OMIM:614115
HP:0012443	Abnormality of brain morphology	55670	PEX26	OMIM:614872
HP:0012443	Abnormality of brain morphology	55670	PEX26	ORPHA:912
HP:0012443	Abnormality of brain morphology	7284	TUFM	OMIM:610678
HP:0012443	Abnormality of brain morphology	529	ATP6V1E1	ORPHA:357074
HP:0012443	Abnormality of brain morphology	5194	PEX13	OMIM:614883
HP:0012443	Abnormality of brain morphology	5194	PEX13	ORPHA:912
HP:0012443	Abnormality of brain morphology	5195	PEX14	OMIM:614887
HP:0012443	Abnormality of brain morphology	5195	PEX14	ORPHA:912
HP:0012443	Abnormality of brain morphology	57647	DHX37	OMIM:618731
HP:0012443	Abnormality of brain morphology	10243	GPHN	OMIM:615501
HP:0012443	Abnormality of brain morphology	5824	PEX19	ORPHA:912
HP:0012443	Abnormality of brain morphology	8504	PEX3	ORPHA:912
HP:0012443	Abnormality of brain morphology	8799	PEX11B	ORPHA:912
HP:0012443	Abnormality of brain morphology	5190	PEX6	ORPHA:912
HP:0012443	Abnormality of brain morphology	5830	PEX5	ORPHA:912
HP:0012443	Abnormality of brain morphology	5193	PEX12	ORPHA:912
HP:0012443	Abnormality of brain morphology	7490	WT1	OMIM:106210
HP:0012443	Abnormality of brain morphology	168667	BMPER	OMIM:608022
HP:0012443	Abnormality of brain morphology	79709	COLGALT1	OMIM:618360
HP:0012443	Abnormality of brain morphology	6628	SNRPB	ORPHA:1393
HP:0012443	Abnormality of brain morphology	6628	SNRPB	OMIM:117650
HP:0012443	Abnormality of brain morphology	170825	GSX2	OMIM:618646
HP:0012443	Abnormality of brain morphology	80704	SLC19A3	OMIM:607483
HP:0012443	Abnormality of brain morphology	80704	SLC19A3	ORPHA:263410
HP:0012443	Abnormality of brain morphology	2512	FTL	ORPHA:157846
HP:0012443	Abnormality of brain morphology	549	AUH	ORPHA:67046
HP:0012443	Abnormality of brain morphology	9131	AIFM1	OMIM:300816
HP:0012443	Abnormality of brain morphology	93986	FOXP2	OMIM:602081
HP:0012443	Abnormality of brain morphology	113612	CYP2U1	OMIM:615030
HP:0012443	Abnormality of brain morphology	9636	ISG15	OMIM:616126
HP:0012443	Abnormality of brain morphology	2767	GNA11	OMIM:615361
HP:0012443	Abnormality of brain morphology	2625	GATA3	OMIM:146255
HP:0012443	Abnormality of brain morphology	760	CA2	OMIM:259730
HP:0012443	Abnormality of brain morphology	760	CA2	ORPHA:2785
HP:0012443	Abnormality of brain morphology	90	ACVR1	OMIM:135100
HP:0012443	Abnormality of brain morphology	2778	GNAS	OMIM:612462
HP:0012443	Abnormality of brain morphology	2778	GNAS	ORPHA:79443
HP:0012443	Abnormality of brain morphology	2778	GNAS	ORPHA:79444
HP:0012443	Abnormality of brain morphology	2778	GNAS	OMIM:103580
HP:0012443	Abnormality of brain morphology	63901	FAM111A	OMIM:127000
HP:0012443	Abnormality of brain morphology	63901	FAM111A	ORPHA:93325
HP:0012443	Abnormality of brain morphology	116442	RAB39B	OMIM:311510
HP:0012443	Abnormality of brain morphology	56984	PSMG2	OMIM:619183
HP:0012443	Abnormality of brain morphology	846	CASR	OMIM:601198
HP:0012443	Abnormality of brain morphology	113235	SLC46A1	OMIM:229050
HP:0012443	Abnormality of brain morphology	5696	PSMB8	OMIM:256040
HP:0012443	Abnormality of brain morphology	2697	GJA1	OMIM:164200
HP:0012443	Abnormality of brain morphology	2658	GDF2	ORPHA:774
HP:0012443	Abnormality of brain morphology	2548	GAA	OMIM:232300
HP:0012443	Abnormality of brain morphology	5921	RASA1	ORPHA:90307
HP:0012443	Abnormality of brain morphology	2159	F10	ORPHA:328
HP:0012443	Abnormality of brain morphology	81704	DOCK8	OMIM:243700
HP:0012443	Abnormality of brain morphology	6786	STIM1	OMIM:185070
HP:0012443	Abnormality of brain morphology	55901	THSD1	OMIM:618734
HP:0012443	Abnormality of brain morphology	55901	THSD1	ORPHA:231160
HP:0012443	Abnormality of brain morphology	2811	GP1BA	ORPHA:853
HP:0012443	Abnormality of brain morphology	3674	ITGA2B	ORPHA:853
HP:0012443	Abnormality of brain morphology	3673	ITGA2	ORPHA:853
HP:0012443	Abnormality of brain morphology	135228	CD109	ORPHA:853
HP:0012443	Abnormality of brain morphology	3690	ITGB3	ORPHA:853
HP:0012443	Abnormality of brain morphology	7049	TGFBR3	ORPHA:231160
HP:0012443	Abnormality of brain morphology	1281	COL3A1	ORPHA:231160
HP:0012443	Abnormality of brain morphology	83854	ANGPTL6	ORPHA:231160
HP:0012443	Abnormality of brain morphology	9896	FIG4	OMIM:216340
HP:0012443	Abnormality of brain morphology	9896	FIG4	ORPHA:3472
HP:0012443	Abnormality of brain morphology	2737	GLI3	ORPHA:672
HP:0012443	Abnormality of brain morphology	55697	VAC14	ORPHA:3472
HP:0012443	Abnormality of brain morphology	65250	CPLANE1	OMIM:277170
HP:0012443	Abnormality of brain morphology	219844	HYLS1	ORPHA:2189
HP:0012443	Abnormality of brain morphology	219844	HYLS1	OMIM:236680
HP:0012443	Abnormality of brain morphology	374654	KIF7	ORPHA:2189
HP:0012443	Abnormality of brain morphology	55636	CHD7	OMIM:214800
HP:0012443	Abnormality of brain morphology	10535	RNASEH2A	ORPHA:51
HP:0012443	Abnormality of brain morphology	84153	RNASEH2C	ORPHA:51
HP:0012443	Abnormality of brain morphology	25939	SAMHD1	ORPHA:51
HP:0012443	Abnormality of brain morphology	79621	RNASEH2B	ORPHA:51
HP:0012443	Abnormality of brain morphology	103	ADAR	ORPHA:51
HP:0012443	Abnormality of brain morphology	134353	LSM11	ORPHA:51
HP:0012443	Abnormality of brain morphology	64135	IFIH1	ORPHA:51
HP:0012443	Abnormality of brain morphology	1312	COMT	ORPHA:567
HP:0012443	Abnormality of brain morphology	221037	JMJD1C	ORPHA:567
HP:0012443	Abnormality of brain morphology	2812	GP1BB	ORPHA:567
HP:0012443	Abnormality of brain morphology	6239	RREB1	ORPHA:567
HP:0012443	Abnormality of brain morphology	6899	TBX1	ORPHA:567
HP:0012443	Abnormality of brain morphology	7290	HIRA	ORPHA:567
HP:0012443	Abnormality of brain morphology	9632	SEC24C	ORPHA:567
HP:0012443	Abnormality of brain morphology	7353	UFD1	ORPHA:567
HP:0012443	Abnormality of brain morphology	421	ARVCF	ORPHA:567
HP:0012443	Abnormality of brain morphology	81839	VANGL1	ORPHA:3027
HP:0012443	Abnormality of brain morphology	80199	FUZ	ORPHA:3027
HP:0012443	Abnormality of brain morphology	2187	FANCB	ORPHA:3412
HP:0012443	Abnormality of brain morphology	526	ATP6V1B2	ORPHA:79500
HP:0012443	Abnormality of brain morphology	57465	TBC1D24	ORPHA:79500
HP:0012443	Abnormality of brain morphology	10262	SF3B4	ORPHA:1788
HP:0012443	Abnormality of brain morphology	64093	SMOC1	ORPHA:1106
HP:0012443	Abnormality of brain morphology	94	ACVRL1	OMIM:600376
HP:0012443	Abnormality of brain morphology	2022	ENG	OMIM:187300
HP:0012443	Abnormality of brain morphology	81031	SLC2A10	OMIM:208050
HP:0012443	Abnormality of brain morphology	2783	GNB2	OMIM:619503
HP:0012443	Abnormality of brain morphology	79184	BRCC3	ORPHA:280679
HP:0012443	Abnormality of brain morphology	1282	COL4A1	OMIM:175780
HP:0012443	Abnormality of brain morphology	54809	SAMD9	OMIM:617053
HP:0012443	Abnormality of brain morphology	2155	F7	OMIM:227500
HP:0012443	Abnormality of brain morphology	2155	F7	ORPHA:327
HP:0012443	Abnormality of brain morphology	538	ATP7A	OMIM:309400
HP:0012443	Abnormality of brain morphology	538	ATP7A	ORPHA:565
HP:0012443	Abnormality of brain morphology	7454	WAS	ORPHA:906
HP:0012443	Abnormality of brain morphology	7456	WIPF1	ORPHA:906
HP:0012443	Abnormality of brain morphology	2624	GATA2	ORPHA:3226
HP:0012443	Abnormality of brain morphology	5345	SERPINF2	ORPHA:79
HP:0012443	Abnormality of brain morphology	249	ALPL	OMIM:241500
HP:0012443	Abnormality of brain morphology	3998	LMAN1	ORPHA:35909
HP:0012443	Abnormality of brain morphology	90411	MCFD2	ORPHA:35909
HP:0012443	Abnormality of brain morphology	2162	F13A1	OMIM:613225
HP:0012443	Abnormality of brain morphology	1584	CYP11B1	ORPHA:90795
HP:0012443	Abnormality of brain morphology	1584	CYP11B1	ORPHA:403
HP:0012443	Abnormality of brain morphology	889	KRIT1	OMIM:116860
HP:0012443	Abnormality of brain morphology	340665	CYP26C1	ORPHA:398189
HP:0012443	Abnormality of brain morphology	1585	CYP11B2	ORPHA:403
HP:0012443	Abnormality of brain morphology	776	CACNA1D	ORPHA:369929
HP:0012443	Abnormality of brain morphology	3762	KCNJ5	ORPHA:251274
HP:0012443	Abnormality of brain morphology	11019	LIAS	OMIM:614462
HP:0012443	Abnormality of brain morphology	34	ACADM	OMIM:201450
HP:0012443	Abnormality of brain morphology	1629	DBT	OMIM:248600
HP:0012443	Abnormality of brain morphology	593	BCKDHA	OMIM:248600
HP:0012443	Abnormality of brain morphology	594	BCKDHB	OMIM:248600
HP:0012443	Abnormality of brain morphology	10165	SLC25A13	ORPHA:247585
HP:0012443	Abnormality of brain morphology	10165	SLC25A13	OMIM:603471
HP:0012443	Abnormality of brain morphology	51692	CPSF3	OMIM:619876
HP:0012443	Abnormality of brain morphology	435	ASL	OMIM:207900
HP:0012443	Abnormality of brain morphology	708	C1QBP	OMIM:617713
HP:0012443	Abnormality of brain morphology	3908	LAMA2	ORPHA:258
HP:0012443	Abnormality of brain morphology	7187	TRAF3	ORPHA:1930
HP:0012443	Abnormality of brain morphology	81622	UNC93B1	ORPHA:1930
HP:0012443	Abnormality of brain morphology	148022	TICAM1	ORPHA:1930
HP:0012443	Abnormality of brain morphology	7098	TLR3	ORPHA:1930
HP:0012443	Abnormality of brain morphology	10577	NPC2	OMIM:607625
HP:0012443	Abnormality of brain morphology	9445	ITM2B	OMIM:117300
HP:0012443	Abnormality of brain morphology	1540	CYLD	OMIM:619132
HP:0012443	Abnormality of brain morphology	4353	MPO	OMIM:104300
HP:0012443	Abnormality of brain morphology	3077	HFE	OMIM:104300
HP:0012443	Abnormality of brain morphology	5328	PLAU	OMIM:104300
HP:0012443	Abnormality of brain morphology	4864	NPC1	OMIM:257220
HP:0012443	Abnormality of brain morphology	27031	NPHP3	OMIM:267010
HP:0012443	Abnormality of brain morphology	123606	NIPA1	ORPHA:261183
HP:0012443	Abnormality of brain morphology	81614	NIPA2	ORPHA:261183
HP:0012443	Abnormality of brain morphology	2521	FUS	ORPHA:275872
HP:0012443	Abnormality of brain morphology	23435	TARDBP	ORPHA:275872
HP:0012443	Abnormality of brain morphology	790	CAD	OMIM:616457
HP:0012443	Abnormality of brain morphology	55163	PNPO	ORPHA:79096
HP:0012443	Abnormality of brain morphology	8869	ST3GAL5	OMIM:609056
HP:0012443	Abnormality of brain morphology	79868	ALG13	ORPHA:324422
HP:0012443	Abnormality of brain morphology	215	ABCD1	ORPHA:139396
HP:0012443	Abnormality of brain morphology	1315	COPB1	OMIM:619255
HP:0012443	Abnormality of brain morphology	27010	TPK1	OMIM:614458
HP:0012443	Abnormality of brain morphology	5251	PHEX	ORPHA:89936
HP:0012443	Abnormality of brain morphology	3590	IL11RA	OMIM:614188
HP:0012443	Abnormality of brain morphology	4796	TONSL	ORPHA:93357
HP:0012443	Abnormality of brain morphology	4796	TONSL	OMIM:271510
HP:0012443	Abnormality of brain morphology	5745	PTH1R	OMIM:600002
HP:0012443	Abnormality of brain morphology	6885	MAP3K7	ORPHA:1826
HP:0012443	Abnormality of brain morphology	81788	NUAK2	OMIM:619452
HP:0012443	Abnormality of brain morphology	6347	CCL2	OMIM:182940
HP:0012443	Abnormality of brain morphology	6862	TBXT	OMIM:182940
HP:0012443	Abnormality of brain morphology	3239	HOXD13	ORPHA:887
HP:0012443	Abnormality of brain morphology	55521	TRIM36	OMIM:206500
HP:0012443	Abnormality of brain morphology	6913	TBX15	OMIM:260660
HP:0012443	Abnormality of brain morphology	7066	THPO	ORPHA:71493
HP:0012443	Abnormality of brain morphology	2717	GLA	OMIM:301500
HP:0012443	Abnormality of brain morphology	2717	GLA	ORPHA:324
HP:0012443	Abnormality of brain morphology	10019	SH2B3	ORPHA:3318
HP:0012443	Abnormality of brain morphology	811	CALR	ORPHA:3318
HP:0012443	Abnormality of brain morphology	51763	INPP5K	ORPHA:559
HP:0012443	Abnormality of brain morphology	256297	PTF1A	OMIM:609069
HP:0012443	Abnormality of brain morphology	7020	TFAP2A	OMIM:113620
HP:0012443	Abnormality of brain morphology	5147	PDE6D	OMIM:615665
HP:0012443	Abnormality of brain morphology	1678	TIMM8A	ORPHA:52368
HP:0012443	Abnormality of brain morphology	6515	SLC2A3	ORPHA:399
HP:0012443	Abnormality of brain morphology	26580	BSCL2	ORPHA:363400
HP:0012443	Abnormality of brain morphology	80217	CFAP43	OMIM:236690
HP:0012443	Abnormality of brain morphology	3155	HMGCL	ORPHA:20
HP:0012443	Abnormality of brain morphology	51103	NDUFAF1	ORPHA:2609
HP:0012443	Abnormality of brain morphology	91942	NDUFAF2	ORPHA:2609
HP:0012443	Abnormality of brain morphology	91942	NDUFAF2	OMIM:618233
HP:0012443	Abnormality of brain morphology	4716	NDUFB10	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4723	NDUFV1	ORPHA:2609
HP:0012443	Abnormality of brain morphology	284184	NDUFAF8	ORPHA:2609
HP:0012443	Abnormality of brain morphology	55863	TMEM126B	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4537	MT-ND3	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4729	NDUFV2	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4726	NDUFS6	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4722	NDUFS3	ORPHA:2609
HP:0012443	Abnormality of brain morphology	126328	NDUFA11	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4709	NDUFB3	ORPHA:2609
HP:0012443	Abnormality of brain morphology	80224	NUBPL	ORPHA:2609
HP:0012443	Abnormality of brain morphology	80224	NUBPL	OMIM:618242
HP:0012443	Abnormality of brain morphology	374291	NDUFS7	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4536	MT-ND2	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4715	NDUFB9	ORPHA:2609
HP:0012443	Abnormality of brain morphology	4570	MT-TN	OMIM:220110
HP:0012443	Abnormality of brain morphology	1890	TYMP	OMIM:603041
HP:0012443	Abnormality of brain morphology	1890	TYMP	ORPHA:298
HP:0012443	Abnormality of brain morphology	22934	RPIA	OMIM:608611
HP:0012443	Abnormality of brain morphology	56945	MRPS22	OMIM:611719
HP:0012443	Abnormality of brain morphology	1615	DARS1	OMIM:615281
HP:0012443	Abnormality of brain morphology	644096	SDHAF1	OMIM:619166
HP:0012443	Abnormality of brain morphology	4780	NFE2L2	OMIM:617744
HP:0012443	Abnormality of brain morphology	54982	CLN6	OMIM:204300
HP:0012443	Abnormality of brain morphology	1181	CLCN2	OMIM:615651
HP:0012443	Abnormality of brain morphology	1967	EIF2B1	OMIM:603896
HP:0012443	Abnormality of brain morphology	27247	NFU1	OMIM:605711
HP:0012443	Abnormality of brain morphology	3735	KARS1	OMIM:619147
HP:0012443	Abnormality of brain morphology	8802	SUCLG1	ORPHA:17
HP:0012443	Abnormality of brain morphology	80169	CTC1	OMIM:612199
HP:0012443	Abnormality of brain morphology	6342	SCP2	OMIM:613724
HP:0012443	Abnormality of brain morphology	28514	DLL1	ORPHA:220386
HP:0012443	Abnormality of brain morphology	28514	DLL1	ORPHA:93926
HP:0012443	Abnormality of brain morphology	28514	DLL1	ORPHA:93924
HP:0012443	Abnormality of brain morphology	28514	DLL1	ORPHA:93925
HP:0012443	Abnormality of brain morphology	2253	FGF8	ORPHA:220386
HP:0012443	Abnormality of brain morphology	2253	FGF8	ORPHA:93926
HP:0012443	Abnormality of brain morphology	2253	FGF8	ORPHA:93924
HP:0012443	Abnormality of brain morphology	2253	FGF8	ORPHA:93925
HP:0012443	Abnormality of brain morphology	7050	TGIF1	ORPHA:220386
HP:0012443	Abnormality of brain morphology	7050	TGIF1	ORPHA:93926
HP:0012443	Abnormality of brain morphology	7050	TGIF1	ORPHA:93924
HP:0012443	Abnormality of brain morphology	7050	TGIF1	ORPHA:93925
HP:0012443	Abnormality of brain morphology	6491	STIL	ORPHA:220386
HP:0012443	Abnormality of brain morphology	6491	STIL	ORPHA:93926
HP:0012443	Abnormality of brain morphology	6491	STIL	ORPHA:93924
HP:0012443	Abnormality of brain morphology	6491	STIL	ORPHA:93925
HP:0012443	Abnormality of brain morphology	2619	GAS1	ORPHA:220386
HP:0012443	Abnormality of brain morphology	2619	GAS1	ORPHA:93926
HP:0012443	Abnormality of brain morphology	2619	GAS1	ORPHA:93924
HP:0012443	Abnormality of brain morphology	2619	GAS1	ORPHA:93925
HP:0012443	Abnormality of brain morphology	84976	DISP1	ORPHA:220386
HP:0012443	Abnormality of brain morphology	84976	DISP1	ORPHA:93926
HP:0012443	Abnormality of brain morphology	84976	DISP1	ORPHA:93924
HP:0012443	Abnormality of brain morphology	84976	DISP1	ORPHA:93925
HP:0012443	Abnormality of brain morphology	2736	GLI2	ORPHA:220386
HP:0012443	Abnormality of brain morphology	2736	GLI2	ORPHA:93926
HP:0012443	Abnormality of brain morphology	2736	GLI2	ORPHA:93924
HP:0012443	Abnormality of brain morphology	2736	GLI2	ORPHA:93925
HP:0012443	Abnormality of brain morphology	8928	FOXH1	ORPHA:220386
HP:0012443	Abnormality of brain morphology	8928	FOXH1	ORPHA:93926
HP:0012443	Abnormality of brain morphology	8928	FOXH1	ORPHA:93924
HP:0012443	Abnormality of brain morphology	8928	FOXH1	ORPHA:93925
HP:0012443	Abnormality of brain morphology	50937	CDON	ORPHA:220386
HP:0012443	Abnormality of brain morphology	50937	CDON	ORPHA:93926
HP:0012443	Abnormality of brain morphology	50937	CDON	ORPHA:93924
HP:0012443	Abnormality of brain morphology	50937	CDON	ORPHA:93925
HP:0012443	Abnormality of brain morphology	8050	PDHX	ORPHA:255182
HP:0012443	Abnormality of brain morphology	1605	DAG1	ORPHA:370997
HP:0012443	Abnormality of brain morphology	25915	NDUFAF3	ORPHA:70474
HP:0012443	Abnormality of brain morphology	4714	NDUFB8	ORPHA:70474
HP:0012443	Abnormality of brain morphology	4720	NDUFS2	ORPHA:70474
HP:0012443	Abnormality of brain morphology	6834	SURF1	ORPHA:70474
HP:0012443	Abnormality of brain morphology	5903	RANBP2	ORPHA:88619
HP:0012443	Abnormality of brain morphology	1759	DNM1	ORPHA:2382
HP:0012443	Abnormality of brain morphology	2562	GABRB3	ORPHA:2382
HP:0012443	Abnormality of brain morphology	5602	MAPK10	ORPHA:2382
HP:0012443	Abnormality of brain morphology	1106	CHD2	ORPHA:2382
HP:0012443	Abnormality of brain morphology	284217	LAMA1	ORPHA:370022
HP:0012443	Abnormality of brain morphology	4668	NAGA	ORPHA:79279
HP:0012443	Abnormality of brain morphology	23265	EXOC7	OMIM:619072
HP:0012443	Abnormality of brain morphology	11113	CIT	OMIM:617090
HP:0012443	Abnormality of brain morphology	3912	LAMB1	OMIM:615191
HP:0012443	Abnormality of brain morphology	3912	LAMB1	ORPHA:352682
HP:0012443	Abnormality of brain morphology	84879	MFSD2A	OMIM:616486
HP:0012443	Abnormality of brain morphology	1859	DYRK1A	ORPHA:268261
HP:0012443	Abnormality of brain morphology	160418	TMTC3	OMIM:617255
HP:0012443	Abnormality of brain morphology	26128	KIFBP	OMIM:609460
HP:0012443	Abnormality of brain morphology	8573	CASK	OMIM:300749
HP:0012443	Abnormality of brain morphology	8239	USP9X	ORPHA:480880
HP:0012443	Abnormality of brain morphology	3839	KPNA3	OMIM:620106
HP:0012443	Abnormality of brain morphology	55627	SMPD4	OMIM:618622
HP:0012443	Abnormality of brain morphology	55624	POMGNT1	OMIM:253280
HP:0012443	Abnormality of brain morphology	55624	POMGNT1	ORPHA:370959
HP:0012443	Abnormality of brain morphology	56623	INPP5E	OMIM:213300
HP:0012443	Abnormality of brain morphology	2218	FKTN	OMIM:253800
HP:0012443	Abnormality of brain morphology	2218	FKTN	OMIM:236670
HP:0012443	Abnormality of brain morphology	84942	WDR73	OMIM:251300
HP:0012443	Abnormality of brain morphology	4784	NFIX	ORPHA:420179
HP:0012443	Abnormality of brain morphology	55165	CEP55	OMIM:236500
HP:0012443	Abnormality of brain morphology	9289	ADGRG1	ORPHA:101070
HP:0012443	Abnormality of brain morphology	9289	ADGRG1	OMIM:606854
HP:0012443	Abnormality of brain morphology	5728	PTEN	ORPHA:101070
HP:0012443	Abnormality of brain morphology	29925	GMPPB	ORPHA:370959
HP:0012443	Abnormality of brain morphology	79147	FKRP	ORPHA:370959
HP:0012443	Abnormality of brain morphology	79147	FKRP	OMIM:236670
HP:0012443	Abnormality of brain morphology	79147	FKRP	OMIM:613153
HP:0012443	Abnormality of brain morphology	29954	POMT2	ORPHA:370959
HP:0012443	Abnormality of brain morphology	29954	POMT2	OMIM:236670
HP:0012443	Abnormality of brain morphology	29954	POMT2	OMIM:613150
HP:0012443	Abnormality of brain morphology	84197	POMK	ORPHA:370959
HP:0012443	Abnormality of brain morphology	84197	POMK	OMIM:615249
HP:0012443	Abnormality of brain morphology	10585	POMT1	ORPHA:370959
HP:0012443	Abnormality of brain morphology	10585	POMT1	OMIM:236670
HP:0012443	Abnormality of brain morphology	10585	POMT1	OMIM:613155
HP:0012443	Abnormality of brain morphology	2972	BRF1	ORPHA:444072
HP:0012443	Abnormality of brain morphology	5162	PDHB	ORPHA:255138
HP:0012443	Abnormality of brain morphology	5515	PPP2CA	OMIM:618354
HP:0012443	Abnormality of brain morphology	11041	B4GAT1	OMIM:615287
HP:0012443	Abnormality of brain morphology	22983	MAST1	OMIM:618273
HP:0012443	Abnormality of brain morphology	55640	FLVCR2	OMIM:225790
HP:0012443	Abnormality of brain morphology	84162	BLTP1	OMIM:617822
HP:0012443	Abnormality of brain morphology	4552	MTRR	ORPHA:2169
HP:0012443	Abnormality of brain morphology	7280	TUBB2A	OMIM:615763
HP:0012443	Abnormality of brain morphology	10381	TUBB3	OMIM:614039
HP:0012443	Abnormality of brain morphology	10381	TUBB3	ORPHA:300570
HP:0012443	Abnormality of brain morphology	9440	MED17	OMIM:613668
HP:0012443	Abnormality of brain morphology	84919	PPP1R15B	OMIM:616817
HP:0012443	Abnormality of brain morphology	84919	PPP1R15B	ORPHA:391408
HP:0012443	Abnormality of brain morphology	93587	TRMT10A	ORPHA:391408
HP:0012443	Abnormality of brain morphology	54820	NDE1	OMIM:605013
HP:0012443	Abnormality of brain morphology	9215	LARGE1	OMIM:608840
HP:0012443	Abnormality of brain morphology	9215	LARGE1	OMIM:236670
HP:0012443	Abnormality of brain morphology	2271	FH	OMIM:606812
HP:0012443	Abnormality of brain morphology	63895	PIEZO2	OMIM:248700
HP:0012443	Abnormality of brain morphology	4621	MYH3	OMIM:193700
HP:0012443	Abnormality of brain morphology	203068	TUBB	OMIM:615771
HP:0012443	Abnormality of brain morphology	29920	PYCR2	OMIM:616420
HP:0012443	Abnormality of brain morphology	29920	PYCR2	ORPHA:481152
HP:0012443	Abnormality of brain morphology	5879	RAC1	OMIM:617751
HP:0012443	Abnormality of brain morphology	5879	RAC1	ORPHA:500159
HP:0012443	Abnormality of brain morphology	111	ADCY5	OMIM:619651
HP:0012443	Abnormality of brain morphology	5119	CHMP1A	OMIM:614961
HP:0012443	Abnormality of brain morphology	729920	CRPPA	OMIM:614643
HP:0012443	Abnormality of brain morphology	1778	DYNC1H1	OMIM:614563
HP:0012443	Abnormality of brain morphology	7436	VLDLR	OMIM:224050
HP:0012443	Abnormality of brain morphology	23499	MACF1	OMIM:618325
HP:0012443	Abnormality of brain morphology	2019	EN1	OMIM:619218
HP:0012443	Abnormality of brain morphology	114034	TOE1	OMIM:614969
HP:0012443	Abnormality of brain morphology	114034	TOE1	ORPHA:284339
HP:0012443	Abnormality of brain morphology	1781	DYNC1I2	OMIM:618492
HP:0012443	Abnormality of brain morphology	148789	B3GALNT2	OMIM:615181
HP:0012443	Abnormality of brain morphology	9562	MINPP1	ORPHA:284339
HP:0012443	Abnormality of brain morphology	171023	ASXL1	OMIM:605039
HP:0012443	Abnormality of brain morphology	51645	PPIL1	OMIM:619301
HP:0012443	Abnormality of brain morphology	51362	CDC40	OMIM:619302
HP:0012443	Abnormality of brain morphology	51075	TMX2	OMIM:618730
HP:0012443	Abnormality of brain morphology	1496	CTNNA2	OMIM:618174
HP:0012443	Abnormality of brain morphology	10352	WARS2	ORPHA:572798
HP:0012443	Abnormality of brain morphology	55770	EXOC2	OMIM:619306
HP:0012443	Abnormality of brain morphology	27445	PCLO	OMIM:608027
HP:0012443	Abnormality of brain morphology	9230	RAB11B	OMIM:617807
HP:0012443	Abnormality of brain morphology	389827	MYMK	OMIM:254940
HP:0012443	Abnormality of brain morphology	59336	PRDM13	OMIM:619909
HP:0012443	Abnormality of brain morphology	2615	LRRC32	OMIM:619074
HP:0012443	Abnormality of brain morphology	54941	RNF125	OMIM:616260
HP:0012443	Abnormality of brain morphology	64324	NSD1	OMIM:117550
HP:0012443	Abnormality of brain morphology	64324	NSD1	ORPHA:821
HP:0012443	Abnormality of brain morphology	4593	MUSK	OMIM:208150
HP:0012443	Abnormality of brain morphology	347733	TUBB2B	ORPHA:300573
HP:0012443	Abnormality of brain morphology	5528	PPP2R5D	ORPHA:457279
HP:0012443	Abnormality of brain morphology	8815	BANF1	OMIM:614008
HP:0012443	Abnormality of brain morphology	81857	MED25	ORPHA:464738
HP:0012443	Abnormality of brain morphology	81857	MED25	OMIM:616449
HP:0012443	Abnormality of brain morphology	3703	STT3A	OMIM:619714
HP:0012443	Abnormality of brain morphology	5048	PAFAH1B1	ORPHA:95232
HP:0012443	Abnormality of brain morphology	9939	RBM8A	OMIM:274000
HP:0012443	Abnormality of brain morphology	7080	NKX2-1	ORPHA:209905
HP:0012443	Abnormality of brain morphology	79087	ALG12	ORPHA:79324
HP:0012443	Abnormality of brain morphology	29072	SETD2	ORPHA:821
HP:0012443	Abnormality of brain morphology	10297	APC2	ORPHA:821
HP:0012443	Abnormality of brain morphology	7703	PCGF2	OMIM:618371
HP:0012443	Abnormality of brain morphology	129285	PPP1R21	OMIM:619383
HP:0012443	Abnormality of brain morphology	5290	PIK3CA	OMIM:602501
HP:0012443	Abnormality of brain morphology	55181	SMG8	OMIM:619268
HP:0012443	Abnormality of brain morphology	5594	MAPK1	OMIM:619087
HP:0012443	Abnormality of brain morphology	8550	MAPKAPK5	OMIM:619869
HP:0012443	Abnormality of brain morphology	55969	RAB5IF	OMIM:616994
HP:0012443	Abnormality of brain morphology	55690	PACS1	ORPHA:329224
HP:0012443	Abnormality of brain morphology	55690	PACS1	OMIM:615009
HP:0012443	Abnormality of brain morphology	4286	MITF	OMIM:617306
HP:0012443	Abnormality of brain morphology	53834	FGFRL1	OMIM:194190
HP:0012443	Abnormality of brain morphology	1487	CTBP1	OMIM:194190
HP:0012443	Abnormality of brain morphology	3954	LETM1	OMIM:194190
HP:0012443	Abnormality of brain morphology	7468	NSD2	OMIM:194190
HP:0012443	Abnormality of brain morphology	10815	CPLX1	OMIM:194190
HP:0012443	Abnormality of brain morphology	57688	ZSWIM6	OMIM:603671
HP:0012443	Abnormality of brain morphology	4511	MT-TC	OMIM:540000
HP:0012443	Abnormality of brain morphology	4577	MT-TV	OMIM:540000
HP:0012443	Abnormality of brain morphology	23600	AMACR	ORPHA:79095
HP:0012443	Abnormality of brain morphology	3569	IL6	OMIM:108010
HP:0012443	Abnormality of brain morphology	80173	IFT74	OMIM:619582
HP:0012443	Abnormality of brain morphology	64601	VPS16	OMIM:619291
HP:0012443	Abnormality of brain morphology	7074	TIAM1	OMIM:619908
HP:0012443	Abnormality of brain morphology	10210	TOPORS	ORPHA:2754
HP:0012443	Abnormality of brain morphology	317662	FAM149B1	ORPHA:2754
HP:0012443	Abnormality of brain morphology	3785	KCNQ2	ORPHA:439218
HP:0012443	Abnormality of brain morphology	55532	SLC30A10	ORPHA:309854
HP:0012443	Abnormality of brain morphology	80025	PANK2	ORPHA:216866
HP:0012443	Abnormality of brain morphology	80025	PANK2	OMIM:607236
HP:0012443	Abnormality of brain morphology	80025	PANK2	OMIM:234200
HP:0012443	Abnormality of brain morphology	318	NUDT2	OMIM:619844
HP:0012443	Abnormality of brain morphology	1737	DLAT	ORPHA:79244
HP:0012443	Abnormality of brain morphology	5551	PRF1	ORPHA:540
HP:0012443	Abnormality of brain morphology	8676	STX11	ORPHA:540
HP:0012443	Abnormality of brain morphology	201294	UNC13D	ORPHA:540
HP:0012443	Abnormality of brain morphology	6813	STXBP2	ORPHA:540
HP:0012443	Abnormality of brain morphology	2632	GBE1	OMIM:263570
HP:0012443	Abnormality of brain morphology	8789	FBP2	OMIM:619864
HP:0012443	Abnormality of brain morphology	57459	GATAD2B	ORPHA:363686
HP:0012443	Abnormality of brain morphology	6182	MRPL12	OMIM:618951
HP:0012443	Abnormality of brain morphology	51	ACOX1	OMIM:618960
HP:0012443	Abnormality of brain morphology	57731	SPTBN4	OMIM:617519
HP:0012443	Abnormality of brain morphology	1807	DPYS	OMIM:222748
HP:0012443	Abnormality of brain morphology	7384	UQCRC1	OMIM:619279
HP:0012443	Abnormality of brain morphology	51473	DCDC2	ORPHA:84081
HP:0012443	Abnormality of brain morphology	22943	DKK1	ORPHA:268882
HP:0012443	Abnormality of brain morphology	8671	SLC4A4	OMIM:604278
HP:0012443	Abnormality of brain morphology	3394	IRF8	OMIM:226990
HP:0012443	Abnormality of brain morphology	3117	HLA-DQA1	OMIM:212750
HP:0012443	Abnormality of brain morphology	3119	HLA-DQB1	OMIM:212750
HP:0012443	Abnormality of brain morphology	1280	COL2A1	ORPHA:85198
HP:0012443	Abnormality of brain morphology	1836	SLC26A2	ORPHA:628
HP:0012443	Abnormality of brain morphology	57169	ZNFX1	OMIM:619644
HP:0012443	Abnormality of brain morphology	4256	MGP	OMIM:245150
HP:0012443	Abnormality of brain morphology	9365	KL	OMIM:617994
HP:0012443	Abnormality of brain morphology	5741	PTH	OMIM:146200
HP:0012443	Abnormality of brain morphology	56160	NSMCE3	OMIM:617241
HP:0012443	Abnormality of brain morphology	79650	USB1	ORPHA:1775
HP:0012443	Abnormality of brain morphology	55135	WRAP53	ORPHA:1775
HP:0012443	Abnormality of brain morphology	4869	NPM1	ORPHA:1775
HP:0012443	Abnormality of brain morphology	7012	TERC	ORPHA:1775
HP:0012443	Abnormality of brain morphology	1188	CLCNKB	ORPHA:358
HP:0012443	Abnormality of brain morphology	6559	SLC12A3	ORPHA:358
HP:0012443	Abnormality of brain morphology	79783	SUGCT	ORPHA:35706
HP:0012443	Abnormality of brain morphology	54344	DPM3	OMIM:618992
HP:0012443	Abnormality of brain morphology	122961	ISCA2	OMIM:616370
HP:0012443	Abnormality of brain morphology	7317	UBA1	ORPHA:1145
HP:0012443	Abnormality of brain morphology	51008	ASCC1	OMIM:616867
HP:0012443	Abnormality of brain morphology	112755	STX1B	ORPHA:36387
HP:0012443	Abnormality of brain morphology	5566	PRKACA	ORPHA:189439
HP:0012443	Abnormality of brain morphology	4072	EPCAM	ORPHA:144
HP:0012443	Abnormality of brain morphology	27030	MLH3	ORPHA:144
HP:0012443	Abnormality of brain morphology	22909	FAN1	ORPHA:144
HP:0012443	Abnormality of brain morphology	2956	MSH6	ORPHA:144
HP:0012443	Abnormality of brain morphology	5378	PMS1	ORPHA:144
HP:0012443	Abnormality of brain morphology	4436	MSH2	ORPHA:144
HP:0012443	Abnormality of brain morphology	64218	SEMA4A	ORPHA:440437
HP:0012443	Abnormality of brain morphology	657	BMPR1A	ORPHA:440437
HP:0012443	Abnormality of brain morphology	79798	ARMC5	ORPHA:189427
HP:0012443	Abnormality of brain morphology	3418	IDH2	ORPHA:163634
HP:0012443	Abnormality of brain morphology	83483	PLVAP	OMIM:618183
HP:0012443	Abnormality of brain morphology	7840	ALMS1	ORPHA:64
HP:0012443	Abnormality of brain morphology	51081	MRPS7	OMIM:617872
HP:0012443	Abnormality of brain morphology	405753	DUOXA2	ORPHA:95716
HP:0012443	Abnormality of brain morphology	6528	SLC5A5	ORPHA:95716
HP:0012443	Abnormality of brain morphology	7038	TG	ORPHA:95716
HP:0012443	Abnormality of brain morphology	7173	TPO	ORPHA:95716
HP:0012443	Abnormality of brain morphology	389434	IYD	ORPHA:95716
HP:0012443	Abnormality of brain morphology	50506	DUOX2	ORPHA:95716
HP:0012443	Abnormality of brain morphology	50506	DUOX2	ORPHA:226316
HP:0012443	Abnormality of brain morphology	7068	THRB	OMIM:145650
HP:0012443	Abnormality of brain morphology	7068	THRB	OMIM:274300
HP:0012443	Abnormality of brain morphology	23137	SMC5	OMIM:620185
HP:0012443	Abnormality of brain morphology	7849	PAX8	OMIM:218700
HP:0012443	Abnormality of brain morphology	80067	DCAF17	OMIM:241080
HP:0012443	Abnormality of brain morphology	6567	SLC16A2	OMIM:300523
HP:0012443	Abnormality of brain morphology	79048	SECISBP2	ORPHA:171706
HP:0012443	Abnormality of brain morphology	79048	SECISBP2	OMIM:609698
HP:0012443	Abnormality of brain morphology	169792	GLIS3	OMIM:610199
HP:0012443	Abnormality of brain morphology	7253	TSHR	OMIM:275200
HP:0012443	Abnormality of brain morphology	7253	TSHR	ORPHA:90673
HP:0012443	Abnormality of brain morphology	55186	SLC25A36	OMIM:620211
HP:0012443	Abnormality of brain morphology	3730	ANOS1	OMIM:308700
HP:0012443	Abnormality of brain morphology	3730	ANOS1	ORPHA:478
HP:0012443	Abnormality of brain morphology	79625	NDNF	OMIM:618841
HP:0012443	Abnormality of brain morphology	79625	NDNF	ORPHA:478
HP:0012443	Abnormality of brain morphology	81848	SPRY4	ORPHA:478
HP:0012443	Abnormality of brain morphology	23767	FLRT3	ORPHA:478
HP:0012443	Abnormality of brain morphology	389549	FEZF1	ORPHA:478
HP:0012443	Abnormality of brain morphology	54756	IL17RD	ORPHA:478
HP:0012443	Abnormality of brain morphology	6663	SOX10	ORPHA:478
HP:0012443	Abnormality of brain morphology	285025	CCDC141	ORPHA:478
HP:0012443	Abnormality of brain morphology	60675	PROK2	ORPHA:478
HP:0012443	Abnormality of brain morphology	1848	DUSP6	ORPHA:478
HP:0012443	Abnormality of brain morphology	6870	TACR3	ORPHA:478
HP:0012443	Abnormality of brain morphology	9394	HS6ST1	ORPHA:478
HP:0012443	Abnormality of brain morphology	8822	FGF17	ORPHA:478
HP:0012443	Abnormality of brain morphology	57194	ATP10A	ORPHA:411515
HP:0012443	Abnormality of brain morphology	1289	COL5A1	OMIM:619329
HP:0012443	Abnormality of brain morphology	6772	STAT1	ORPHA:391487
HP:0012443	Abnormality of brain morphology	10043	TOM1	ORPHA:391487
HP:0012443	Abnormality of brain morphology	5589	PRKCSH	OMIM:174050
HP:0012443	Abnormality of brain morphology	1277	COL1A1	ORPHA:287
HP:0012443	Abnormality of brain morphology	1290	COL5A2	ORPHA:287
HP:0012443	Abnormality of brain morphology	10621	POLR3F	OMIM:619872
HP:0012443	Abnormality of brain morphology	4921	DDR2	OMIM:271665
HP:0012443	Abnormality of brain morphology	1301	COL11A1	OMIM:154780
HP:0012443	Abnormality of brain morphology	84706	GPT2	OMIM:616281
HP:0012443	Abnormality of brain morphology	3376	IARS1	OMIM:617093
HP:0012443	Abnormality of brain morphology	9853	RUSC2	OMIM:617773
HP:0012443	Abnormality of brain morphology	6873	TAF2	OMIM:615599
HP:0012443	Abnormality of brain morphology	6873	TAF2	ORPHA:397951
HP:0012443	Abnormality of brain morphology	53616	ADAM22	OMIM:617933
HP:0012443	Abnormality of brain morphology	6571	SLC18A2	ORPHA:352649
HP:0012443	Abnormality of brain morphology	22854	NTNG1	ORPHA:3095
HP:0012443	Abnormality of brain morphology	51506	UFC1	OMIM:618076
HP:0012443	Abnormality of brain morphology	6392	SDHD	OMIM:619167
HP:0012443	Abnormality of brain morphology	79068	FTO	OMIM:612938
HP:0012443	Abnormality of brain morphology	55777	MBD5	OMIM:156200
HP:0012443	Abnormality of brain morphology	22796	COG2	OMIM:617395
HP:0012443	Abnormality of brain morphology	22796	COG2	ORPHA:435934
HP:0012443	Abnormality of brain morphology	112939	NACC1	OMIM:617393
HP:0012443	Abnormality of brain morphology	55858	TMEM165	OMIM:614727
HP:0012443	Abnormality of brain morphology	54675	CRLS1	OMIM:620167
HP:0012443	Abnormality of brain morphology	22845	DOLK	OMIM:610768
HP:0012443	Abnormality of brain morphology	8604	SLC25A12	OMIM:612949
HP:0012443	Abnormality of brain morphology	10087	CERT1	OMIM:616351
HP:0012443	Abnormality of brain morphology	22884	WDR37	OMIM:618652
HP:0012443	Abnormality of brain morphology	2903	GRIN2A	ORPHA:289266
HP:0012443	Abnormality of brain morphology	3188	HNRNPH2	OMIM:300986
HP:0012443	Abnormality of brain morphology	9343	EFTUD2	ORPHA:79113
HP:0012443	Abnormality of brain morphology	339983	NAT8L	OMIM:614063
HP:0012443	Abnormality of brain morphology	51501	HIKESHI	OMIM:616881
HP:0012443	Abnormality of brain morphology	57468	SLC12A5	OMIM:616645
HP:0012443	Abnormality of brain morphology	8818	DPM2	OMIM:615042
HP:0012443	Abnormality of brain morphology	7204	TRIO	ORPHA:476126
HP:0012443	Abnormality of brain morphology	539	ATP5PO	OMIM:620359
HP:0012443	Abnormality of brain morphology	6513	SLC2A1	OMIM:606777
HP:0012443	Abnormality of brain morphology	5538	PPT1	OMIM:256730
HP:0012443	Abnormality of brain morphology	1719	DHFR	OMIM:613839
HP:0012443	Abnormality of brain morphology	6509	SLC1A4	ORPHA:447997
HP:0012443	Abnormality of brain morphology	10079	ATP9A	OMIM:620242
HP:0012443	Abnormality of brain morphology	51693	TRAPPC2L	OMIM:618331
HP:0012443	Abnormality of brain morphology	3329	HSPD1	OMIM:612233
HP:0012443	Abnormality of brain morphology	4221	MEN1	ORPHA:652
HP:0012443	Abnormality of brain morphology	4221	MEN1	ORPHA:99725
HP:0012443	Abnormality of brain morphology	4221	MEN1	ORPHA:97279
HP:0012443	Abnormality of brain morphology	4221	MEN1	OMIM:131100
HP:0012443	Abnormality of brain morphology	1027	CDKN1B	ORPHA:652
HP:0012443	Abnormality of brain morphology	1027	CDKN1B	ORPHA:276152
HP:0012443	Abnormality of brain morphology	1026	CDKN1A	ORPHA:652
HP:0012443	Abnormality of brain morphology	1030	CDKN2B	ORPHA:652
HP:0012443	Abnormality of brain morphology	1031	CDKN2C	ORPHA:652
HP:0012443	Abnormality of brain morphology	9049	AIP	ORPHA:99725
HP:0012443	Abnormality of brain morphology	9049	AIP	ORPHA:963
HP:0012443	Abnormality of brain morphology	9049	AIP	OMIM:102200
HP:0012443	Abnormality of brain morphology	83550	GPR101	ORPHA:963
HP:0012443	Abnormality of brain morphology	85476	GFM1	OMIM:609060
HP:0012443	Abnormality of brain morphology	23636	NUP62	ORPHA:225154
HP:0012443	Abnormality of brain morphology	3769	KCNJ13	ORPHA:65
HP:0012443	Abnormality of brain morphology	343035	RD3	ORPHA:65
HP:0012443	Abnormality of brain morphology	145226	RDH12	ORPHA:65
HP:0012443	Abnormality of brain morphology	1406	CRX	ORPHA:65
HP:0012443	Abnormality of brain morphology	10383	TUBB4B	ORPHA:65
HP:0012443	Abnormality of brain morphology	85015	USP45	ORPHA:65
HP:0012443	Abnormality of brain morphology	6121	RPE65	ORPHA:65
HP:0012443	Abnormality of brain morphology	23418	CRB1	ORPHA:65
HP:0012443	Abnormality of brain morphology	5130	PCYT1A	ORPHA:65
HP:0012443	Abnormality of brain morphology	9657	IQCB1	ORPHA:65
HP:0012443	Abnormality of brain morphology	392255	GDF6	ORPHA:65
HP:0012443	Abnormality of brain morphology	23746	AIPL1	ORPHA:65
HP:0012443	Abnormality of brain morphology	3000	GUCY2D	ORPHA:65
HP:0012443	Abnormality of brain morphology	9227	LRAT	ORPHA:65
HP:0012443	Abnormality of brain morphology	55812	SPATA7	ORPHA:65
HP:0012443	Abnormality of brain morphology	7287	TULP1	ORPHA:65
HP:0012443	Abnormality of brain morphology	167691	LCA5	ORPHA:65
HP:0012443	Abnormality of brain morphology	3614	IMPDH1	ORPHA:65
HP:0012443	Abnormality of brain morphology	23229	ARHGEF9	OMIM:300607
HP:0012443	Abnormality of brain morphology	375	ARF1	OMIM:618185
HP:0012443	Abnormality of brain morphology	9698	PUM1	OMIM:617931
HP:0012443	Abnormality of brain morphology	4311	MME	OMIM:617018
HP:0012443	Abnormality of brain morphology	4311	MME	ORPHA:497764
HP:0012443	Abnormality of brain morphology	9254	CACNA2D2	OMIM:618501
HP:0012443	Abnormality of brain morphology	53335	BCL11A	OMIM:617101
HP:0012443	Abnormality of brain morphology	1742	DLG4	OMIM:618793
HP:0012443	Abnormality of brain morphology	4010	LMX1B	ORPHA:495818
HP:0012443	Abnormality of brain morphology	6812	STXBP1	ORPHA:495818
HP:0012443	Abnormality of brain morphology	54676	GTPBP2	OMIM:617988
HP:0012443	Abnormality of brain morphology	11261	CHP1	OMIM:618438
HP:0012443	Abnormality of brain morphology	116228	COX20	OMIM:619054
HP:0012443	Abnormality of brain morphology	57410	SCYL1	ORPHA:466794
HP:0012443	Abnormality of brain morphology	57410	SCYL1	OMIM:616719
HP:0012443	Abnormality of brain morphology	84314	TMEM107	ORPHA:564
HP:0012443	Abnormality of brain morphology	26123	TCTN3	ORPHA:564
HP:0012443	Abnormality of brain morphology	79867	TCTN2	ORPHA:564
HP:0012443	Abnormality of brain morphology	80776	B9D2	ORPHA:564
HP:0012443	Abnormality of brain morphology	79600	TCTN1	ORPHA:564
HP:0012443	Abnormality of brain morphology	57096	RPGRIP1	ORPHA:564
HP:0012443	Abnormality of brain morphology	79848	CSPP1	ORPHA:564
HP:0012443	Abnormality of brain morphology	80184	CEP290	ORPHA:564
HP:0012443	Abnormality of brain morphology	51259	TMEM216	ORPHA:564
HP:0012443	Abnormality of brain morphology	57545	CC2D2A	ORPHA:564
HP:0012443	Abnormality of brain morphology	79583	TMEM231	ORPHA:564
HP:0012443	Abnormality of brain morphology	91147	TMEM67	ORPHA:564
HP:0012443	Abnormality of brain morphology	79770	TXNDC15	ORPHA:564
HP:0012443	Abnormality of brain morphology	27077	B9D1	ORPHA:564
HP:0012443	Abnormality of brain morphology	23322	RPGRIP1L	ORPHA:564
HP:0012443	Abnormality of brain morphology	54903	MKS1	ORPHA:564
HP:0012443	Abnormality of brain morphology	65062	TMEM237	ORPHA:564
HP:0012443	Abnormality of brain morphology	5885	RAD21	OMIM:614701
HP:0012443	Abnormality of brain morphology	23019	CNOT1	OMIM:618500
HP:0012443	Abnormality of brain morphology	114803	MYSM1	ORPHA:508542
HP:0012443	Abnormality of brain morphology	80347	COASY	OMIM:618266
HP:0012443	Abnormality of brain morphology	476	ATP1A1	ORPHA:564178
HP:0012443	Abnormality of brain morphology	55733	HHAT	ORPHA:1422
HP:0012443	Abnormality of brain morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012443	Abnormality of brain morphology	9928	KIF14	OMIM:616258
HP:0012443	Abnormality of brain morphology	56270	WDR45B	OMIM:617977
HP:0012443	Abnormality of brain morphology	3295	HSD17B4	OMIM:261515
HP:0012443	Abnormality of brain morphology	26227	PHGDH	ORPHA:79351
HP:0012443	Abnormality of brain morphology	701	BUB1B	OMIM:257300
HP:0012443	Abnormality of brain morphology	5575	PRKAR1B	ORPHA:412066
HP:0012443	Abnormality of brain morphology	3097	HIVEP2	OMIM:616977
HP:0012443	Abnormality of brain morphology	9255	AIMP1	OMIM:260600
HP:0012443	Abnormality of brain morphology	23209	MLC1	OMIM:604004
HP:0012443	Abnormality of brain morphology	81555	YIPF5	OMIM:619278
HP:0012443	Abnormality of brain morphology	4750	NEK1	OMIM:263520
HP:0012443	Abnormality of brain morphology	80816	ASXL3	OMIM:615485
HP:0012443	Abnormality of brain morphology	1841	DTYMK	OMIM:619847
HP:0012443	Abnormality of brain morphology	23291	FBXW11	OMIM:618914
HP:0012443	Abnormality of brain morphology	90161	HS6ST2	OMIM:301025
HP:0012443	Abnormality of brain morphology	57551	TAOK1	OMIM:619575
HP:0012443	Abnormality of brain morphology	129685	TAF8	OMIM:619972
HP:0012443	Abnormality of brain morphology	8792	TNFRSF11A	OMIM:612301
HP:0012443	Abnormality of brain morphology	80311	KLHL15	OMIM:300982
HP:0012443	Abnormality of brain morphology	25930	PTPN23	OMIM:618890
HP:0012443	Abnormality of brain morphology	200734	SPRED2	OMIM:619745
HP:0012443	Abnormality of brain morphology	2752	GLUL	OMIM:610015
HP:0012443	Abnormality of brain morphology	56006	SMG9	OMIM:619995
HP:0012443	Abnormality of brain morphology	4329	ALDH6A1	OMIM:614105
HP:0012443	Abnormality of brain morphology	93210	PGAP3	OMIM:615716
HP:0012443	Abnormality of brain morphology	284252	KCTD1	OMIM:181270
HP:0012443	Abnormality of brain morphology	728294	D2HGDH	OMIM:600721
HP:0012443	Abnormality of brain morphology	51244	CCDC174	OMIM:616816
HP:0012443	Abnormality of brain morphology	10430	TMEM147	OMIM:620075
HP:0012443	Abnormality of brain morphology	79989	IFT56	OMIM:619534
HP:0012443	Abnormality of brain morphology	738	VPS51	OMIM:618606
HP:0012443	Abnormality of brain morphology	8139	GAN	OMIM:256850
HP:0012443	Abnormality of brain morphology	1523	CUX1	OMIM:618330
HP:0012443	Abnormality of brain morphology	3763	KCNJ6	OMIM:614098
HP:0012443	Abnormality of brain morphology	1075	CTSC	OMIM:245000
HP:0012443	Abnormality of brain morphology	80267	EDEM3	OMIM:619493
HP:0012443	Abnormality of brain morphology	5091	PC	OMIM:266150
HP:0012443	Abnormality of brain morphology	4718	NDUFC2	OMIM:619170
HP:0012443	Abnormality of brain morphology	7874	USP7	ORPHA:500055
HP:0012443	Abnormality of brain morphology	79029	AFG2B	OMIM:619616
HP:0012443	Abnormality of brain morphology	57479	PRR12	OMIM:619539
HP:0012443	Abnormality of brain morphology	51002	TPRKB	OMIM:617731
HP:0012443	Abnormality of brain morphology	57514	ARHGAP31	OMIM:100300
HP:0012443	Abnormality of brain morphology	57514	ARHGAP31	ORPHA:974
HP:0012443	Abnormality of brain morphology	4897	NRCAM	OMIM:619833
HP:0012443	Abnormality of brain morphology	23259	DDHD2	ORPHA:320380
HP:0012443	Abnormality of brain morphology	26047	CNTNAP2	ORPHA:163681
HP:0012443	Abnormality of brain morphology	375387	NRROS	OMIM:618875
HP:0012443	Abnormality of brain morphology	200424	TET3	OMIM:618798
HP:0012443	Abnormality of brain morphology	55753	OGDHL	OMIM:619701
HP:0012443	Abnormality of brain morphology	3516	RBPJ	ORPHA:974
HP:0012443	Abnormality of brain morphology	4851	NOTCH1	ORPHA:974
HP:0012443	Abnormality of brain morphology	57572	DOCK6	ORPHA:974
HP:0012443	Abnormality of brain morphology	285203	EOGT	ORPHA:974
HP:0012443	Abnormality of brain morphology	54567	DLL4	ORPHA:974
HP:0012443	Abnormality of brain morphology	57505	AARS2	OMIM:615889
HP:0012443	Abnormality of brain morphology	9373	PLAA	OMIM:617527
HP:0012443	Abnormality of brain morphology	84334	COA8	ORPHA:436271
HP:0012443	Abnormality of brain morphology	3798	KIF5A	OMIM:617235
HP:0012443	Abnormality of brain morphology	6389	SDHA	OMIM:252011
HP:0012443	Abnormality of brain morphology	5727	PTCH1	OMIM:610828
HP:0012443	Abnormality of brain morphology	2260	FGFR1	OMIM:615465
HP:0012443	Abnormality of brain morphology	7546	ZIC2	OMIM:609637
HP:0012443	Abnormality of brain morphology	10735	STAG2	OMIM:301043
HP:0012443	Abnormality of brain morphology	23007	PLCH1	OMIM:619895
HP:0012443	Abnormality of brain morphology	6496	SIX3	OMIM:157170
HP:0012443	Abnormality of brain morphology	7846	TUBA1A	ORPHA:171680
HP:0012443	Abnormality of brain morphology	4841	NONO	ORPHA:466791
HP:0012443	Abnormality of brain morphology	4841	NONO	OMIM:300967
HP:0012443	Abnormality of brain morphology	9791	PTDSS1	OMIM:151050
HP:0012443	Abnormality of brain morphology	29899	GPSM2	OMIM:604213
HP:0012443	Abnormality of brain morphology	4001	LMNB1	OMIM:619179
HP:0012443	Abnormality of brain morphology	6651	SON	ORPHA:500150
HP:0012443	Abnormality of brain morphology	6651	SON	OMIM:617140
HP:0012443	Abnormality of brain morphology	9692	PRORP	OMIM:619737
HP:0012443	Abnormality of brain morphology	4659	PPP1R12A	OMIM:618820
HP:0012443	Abnormality of brain morphology	51807	TUBA8	ORPHA:250972
HP:0012443	Abnormality of brain morphology	93627	TBCK	OMIM:616900
HP:0012443	Abnormality of brain morphology	5361	PLXNA1	OMIM:619955
HP:0012443	Abnormality of brain morphology	374969	SVBP	OMIM:618569
HP:0012443	Abnormality of brain morphology	84081	NSRP1	OMIM:620001
HP:0012443	Abnormality of brain morphology	124454	EARS2	OMIM:614924
HP:0012443	Abnormality of brain morphology	83480	PUS3	ORPHA:488627
HP:0012443	Abnormality of brain morphology	91647	ATPAF2	OMIM:604273
HP:0012443	Abnormality of brain morphology	57192	MCOLN1	OMIM:252650
HP:0012443	Abnormality of brain morphology	9786	KIAA0586	OMIM:616490
HP:0012443	Abnormality of brain morphology	79228	THOC6	ORPHA:363444
HP:0012443	Abnormality of brain morphology	23258	DENND5A	OMIM:617281
HP:0012443	Abnormality of brain morphology	23309	SIN3B	ORPHA:500166
HP:0012443	Abnormality of brain morphology	25942	SIN3A	ORPHA:500166
HP:0012443	Abnormality of brain morphology	25942	SIN3A	OMIM:613406
HP:0012443	Abnormality of brain morphology	10524	KAT5	OMIM:619103
HP:0012443	Abnormality of brain morphology	205327	C2orf69	OMIM:619423
HP:0012443	Abnormality of brain morphology	22978	NT5C2	OMIM:613162
HP:0012443	Abnormality of brain morphology	5283	PIGH	OMIM:618010
HP:0012443	Abnormality of brain morphology	23287	AGTPBP1	OMIM:618276
HP:0012443	Abnormality of brain morphology	3313	HSPA9	OMIM:616854
HP:0012443	Abnormality of brain morphology	283989	TSEN54	ORPHA:2524
HP:0012443	Abnormality of brain morphology	116461	TSEN15	ORPHA:2524
HP:0012443	Abnormality of brain morphology	79042	TSEN34	ORPHA:2524
HP:0012443	Abnormality of brain morphology	80746	TSEN2	ORPHA:2524
HP:0012443	Abnormality of brain morphology	51091	SEPSECS	ORPHA:2524
HP:0012443	Abnormality of brain morphology	4953	ODC1	ORPHA:544488
HP:0012443	Abnormality of brain morphology	25914	RTTN	OMIM:614833
HP:0012443	Abnormality of brain morphology	55210	ATAD3A	OMIM:618810
HP:0012443	Abnormality of brain morphology	1642	DDB1	OMIM:619426
HP:0012443	Abnormality of brain morphology	79633	FAT4	ORPHA:314679
HP:0012443	Abnormality of brain morphology	8642	DCHS1	ORPHA:314679
HP:0012443	Abnormality of brain morphology	4713	NDUFB7	OMIM:620135
HP:0012443	Abnormality of brain morphology	4358	MPV17	OMIM:256810
HP:0012443	Abnormality of brain morphology	100147744	RNU7-1	OMIM:619487
HP:0012443	Abnormality of brain morphology	3980	LIG3	OMIM:619780
HP:0012443	Abnormality of brain morphology	8622	PDE8B	OMIM:609161
HP:0012443	Abnormality of brain morphology	545	ATR	OMIM:210600
HP:0012443	Abnormality of brain morphology	26173	INTS1	OMIM:618571
HP:0012443	Abnormality of brain morphology	51780	KDM3B	OMIM:618846
HP:0012443	Abnormality of brain morphology	9772	TMEM94	OMIM:618316
HP:0012443	Abnormality of brain morphology	5076	PAX2	OMIM:120330
HP:0012443	Abnormality of brain morphology	161742	SPRED1	ORPHA:137605
HP:0012443	Abnormality of brain morphology	7319	UBE2A	OMIM:300860
HP:0012443	Abnormality of brain morphology	7319	UBE2A	ORPHA:163956
HP:0012443	Abnormality of brain morphology	135	ADORA2A	ORPHA:363549
HP:0012443	Abnormality of brain morphology	790955	UQCC3	OMIM:616111
HP:0012443	Abnormality of brain morphology	2193	FARSA	OMIM:619013
HP:0012443	Abnormality of brain morphology	131118	DNAJC19	ORPHA:66634
HP:0012443	Abnormality of brain morphology	1355	COX15	OMIM:615119
HP:0012443	Abnormality of brain morphology	55967	NDUFA12	ORPHA:255241
HP:0012443	Abnormality of brain morphology	51204	TACO1	ORPHA:255241
HP:0012443	Abnormality of brain morphology	51204	TACO1	OMIM:619052
HP:0012443	Abnormality of brain morphology	4705	NDUFA10	ORPHA:255241
HP:0012443	Abnormality of brain morphology	4697	NDUFA4	ORPHA:255241
HP:0012443	Abnormality of brain morphology	57107	PDSS2	ORPHA:255249
HP:0012443	Abnormality of brain morphology	57107	PDSS2	OMIM:614652
HP:0012443	Abnormality of brain morphology	3949	LDLR	ORPHA:391665
HP:0012443	Abnormality of brain morphology	255738	PCSK9	ORPHA:391665
HP:0012443	Abnormality of brain morphology	26119	LDLRAP1	ORPHA:391665
HP:0012443	Abnormality of brain morphology	338	APOB	ORPHA:391665
HP:0012443	Abnormality of brain morphology	64240	ABCG5	ORPHA:391665
HP:0012443	Abnormality of brain morphology	64241	ABCG8	ORPHA:391665
HP:0012443	Abnormality of brain morphology	54453	RIN2	OMIM:613075
HP:0012443	Abnormality of brain morphology	64857	PLEKHG2	OMIM:616763
HP:0012443	Abnormality of brain morphology	92609	TIMM50	ORPHA:505216
HP:0012443	Abnormality of brain morphology	7249	TSC2	OMIM:613254
HP:0012443	Abnormality of brain morphology	7249	TSC2	OMIM:607341
HP:0012443	Abnormality of brain morphology	3458	IFNG	OMIM:613254
HP:0012443	Abnormality of brain morphology	7248	TSC1	OMIM:191100
HP:0012443	Abnormality of brain morphology	7248	TSC1	OMIM:607341
HP:0012443	Abnormality of brain morphology	1513	CTSK	ORPHA:763
HP:0012443	Abnormality of brain morphology	4556	MT-TE	ORPHA:225
HP:0012443	Abnormality of brain morphology	4566	MT-TK	ORPHA:225
HP:0012443	Abnormality of brain morphology	9640	ZNF592	ORPHA:83472
HP:0012443	Abnormality of brain morphology	1892	ECHS1	OMIM:616277
HP:0012443	Abnormality of brain morphology	3981	LIG4	ORPHA:235
HP:0012443	Abnormality of brain morphology	54888	NSUN2	ORPHA:235
HP:0012443	Abnormality of brain morphology	64327	LMBR1	ORPHA:2378
HP:0012443	Abnormality of brain morphology	51114	ZDHHC9	ORPHA:776
HP:0012443	Abnormality of brain morphology	65109	UPF3B	ORPHA:776
HP:0012443	Abnormality of brain morphology	10225	CD96	ORPHA:1308
HP:0012443	Abnormality of brain morphology	51524	TMEM138	ORPHA:2318
HP:0012443	Abnormality of brain morphology	23090	ZNF423	ORPHA:2318
HP:0012443	Abnormality of brain morphology	29980	DONSON	OMIM:251230
HP:0012443	Abnormality of brain morphology	1621	DBH	OMIM:223360
HP:0012443	Abnormality of brain morphology	2488	FSHB	ORPHA:52901
HP:0012443	Abnormality of brain morphology	8675	STX16	ORPHA:94089
HP:0012443	Abnormality of brain morphology	2245	FGD1	OMIM:305400
HP:0012443	Abnormality of brain morphology	286053	NSMCE2	OMIM:617253
HP:0012443	Abnormality of brain morphology	1730	DIAPH2	OMIM:300511
HP:0012443	Abnormality of brain morphology	402381	SOHLH1	OMIM:617690
HP:0012443	Abnormality of brain morphology	2100	ESR2	OMIM:618187
HP:0012443	Abnormality of brain morphology	84515	MCM8	OMIM:612885
HP:0012443	Abnormality of brain morphology	2516	NR5A1	OMIM:612964
HP:0012443	Abnormality of brain morphology	2516	NR5A1	OMIM:612965
HP:0012443	Abnormality of brain morphology	2516	NR5A1	ORPHA:251510
HP:0012443	Abnormality of brain morphology	125150	ZSWIM7	OMIM:619834
HP:0012443	Abnormality of brain morphology	6736	SRY	OMIM:400044
HP:0012443	Abnormality of brain morphology	6736	SRY	OMIM:400045
HP:0012443	Abnormality of brain morphology	6736	SRY	ORPHA:251510
HP:0012443	Abnormality of brain morphology	5447	POR	ORPHA:95699
HP:0012443	Abnormality of brain morphology	317761	C14orf39	OMIM:619203
HP:0012443	Abnormality of brain morphology	3972	LHB	OMIM:228300
HP:0012443	Abnormality of brain morphology	1586	CYP17A1	ORPHA:90796
HP:0012443	Abnormality of brain morphology	1586	CYP17A1	ORPHA:90793
HP:0012443	Abnormality of brain morphology	84225	ZMYND15	OMIM:615842
HP:0012443	Abnormality of brain morphology	164045	HFM1	OMIM:615724
HP:0012443	Abnormality of brain morphology	84634	KISS1R	OMIM:176400
HP:0012443	Abnormality of brain morphology	10734	STAG3	OMIM:615723
HP:0012443	Abnormality of brain morphology	668	FOXL2	ORPHA:572333
HP:0012443	Abnormality of brain morphology	254394	MCM9	OMIM:616185
HP:0012443	Abnormality of brain morphology	29893	PSMC3IP	OMIM:614324
HP:0012443	Abnormality of brain morphology	4438	MSH4	OMIM:619938
HP:0012443	Abnormality of brain morphology	8192	CLPP	OMIM:614129
HP:0012443	Abnormality of brain morphology	646	BNC1	OMIM:618723
HP:0012443	Abnormality of brain morphology	658	BMPR1B	OMIM:609441
HP:0012443	Abnormality of brain morphology	367	AR	OMIM:300068
HP:0012443	Abnormality of brain morphology	84733	CBX2	OMIM:613080
HP:0012443	Abnormality of brain morphology	93953	GCNA	OMIM:301077
HP:0012443	Abnormality of brain morphology	2661	GDF9	OMIM:618014
HP:0012443	Abnormality of brain morphology	23514	SPIDR	OMIM:619665
HP:0012443	Abnormality of brain morphology	4439	MSH5	OMIM:617442
HP:0012443	Abnormality of brain morphology	344018	FIGLA	OMIM:612310
HP:0012443	Abnormality of brain morphology	158401	SHOC1	OMIM:619949
HP:0012443	Abnormality of brain morphology	6845	VAMP7	ORPHA:251510
HP:0012443	Abnormality of brain morphology	4214	MAP3K1	ORPHA:251510
HP:0012443	Abnormality of brain morphology	58524	DMRT3	ORPHA:251510
HP:0012443	Abnormality of brain morphology	23414	ZFPM2	ORPHA:251510
HP:0012443	Abnormality of brain morphology	190	NR0B1	ORPHA:251510
HP:0012443	Abnormality of brain morphology	7200	TRH	OMIM:275120
HP:0012443	Abnormality of brain morphology	5122	PCSK1	ORPHA:71528
HP:0012443	Abnormality of brain morphology	7201	TRHR	ORPHA:99832
HP:0012443	Abnormality of brain morphology	283987	HID1	OMIM:619983
HP:0012443	Abnormality of brain morphology	3952	LEP	ORPHA:66628
HP:0012443	Abnormality of brain morphology	7252	TSHB	ORPHA:90674
HP:0012443	Abnormality of brain morphology	5456	POU3F4	ORPHA:1435
HP:0012443	Abnormality of brain morphology	116115	ZNF526	OMIM:619877
HP:0012443	Abnormality of brain morphology	8405	SPOP	OMIM:618828
HP:0012443	Abnormality of brain morphology	1457	CSNK2A1	OMIM:617062
HP:0012443	Abnormality of brain morphology	1062	CENPE	OMIM:616051
HP:0012443	Abnormality of brain morphology	3832	KIF11	OMIM:152950
HP:0012443	Abnormality of brain morphology	55599	RNPC3	OMIM:618160
HP:0012443	Abnormality of brain morphology	2688	GH1	OMIM:173100
HP:0012443	Abnormality of brain morphology	2692	GHRHR	OMIM:618157
HP:0012443	Abnormality of brain morphology	7471	WNT1	OMIM:615220
HP:0012443	Abnormality of brain morphology	55209	SETD5	ORPHA:404440
HP:0012443	Abnormality of brain morphology	29998	BICRA	OMIM:619325
HP:0012443	Abnormality of brain morphology	6599	SMARCC1	OMIM:620241
HP:0012443	Abnormality of brain morphology	9918	NCAPD2	OMIM:617983
HP:0012443	Abnormality of brain morphology	1984	EIF5A	OMIM:619376
HP:0012443	Abnormality of brain morphology	6045	RNF2	OMIM:619460
HP:0012443	Abnormality of brain morphology	4905	NSF	OMIM:619340
HP:0012443	Abnormality of brain morphology	3712	IVD	OMIM:243500
HP:0012443	Abnormality of brain morphology	9095	TBX19	OMIM:201400
HP:0012443	Abnormality of brain morphology	84133	ZNRF3	ORPHA:1501
HP:0012443	Abnormality of brain morphology	1029	CDKN2A	ORPHA:1501
HP:0012443	Abnormality of brain morphology	3284	HSD3B2	ORPHA:90791
HP:0012443	Abnormality of brain morphology	4173	MCM4	OMIM:609981
HP:0012443	Abnormality of brain morphology	2077	ERF	OMIM:600775
HP:0012443	Abnormality of brain morphology	6926	TBX3	OMIM:181450
HP:0012443	Abnormality of brain morphology	51726	DNAJB11	ORPHA:730
HP:0012443	Abnormality of brain morphology	23193	GANAB	ORPHA:730
HP:0012443	Abnormality of brain morphology	5310	PKD1	ORPHA:730
HP:0012443	Abnormality of brain morphology	5311	PKD2	ORPHA:730
HP:0012443	Abnormality of brain morphology	29880	ALG5	ORPHA:730
HP:0012443	Abnormality of brain morphology	80114	BICC1	ORPHA:730
HP:0012443	Abnormality of brain morphology	10015	PDCD6IP	OMIM:620047
HP:0012443	Abnormality of brain morphology	3178	HNRNPA1	ORPHA:52430
HP:0012443	Abnormality of brain morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012443	Abnormality of brain morphology	4190	MDH1	OMIM:618959
HP:0012443	Abnormality of brain morphology	4081	MAB21L1	OMIM:618479
HP:0012443	Abnormality of brain morphology	64221	ROBO3	OMIM:607313
HP:0012443	Abnormality of brain morphology	9181	ARHGEF2	OMIM:617523
HP:0012443	Abnormality of brain morphology	137682	NDUFAF6	OMIM:618239
HP:0012443	Abnormality of brain morphology	3975	LHX1	ORPHA:261265
HP:0012443	Abnormality of brain morphology	8314	BAP1	ORPHA:2495
HP:0012443	Abnormality of brain morphology	4771	NF2	ORPHA:2495
HP:0012443	Abnormality of brain morphology	207	AKT1	ORPHA:2495
HP:0012443	Abnormality of brain morphology	3953	LEPR	OMIM:614963
HP:0012443	Abnormality of brain morphology	6660	SOX5	ORPHA:313892
HP:0012443	Abnormality of brain morphology	6341	SCO1	OMIM:619048
HP:0012443	Abnormality of brain morphology	427	ASAH1	ORPHA:333
HP:0012443	Abnormality of brain morphology	29967	LRP12	OMIM:164310
HP:0012443	Abnormality of brain morphology	56479	KCNQ5	OMIM:617601
HP:0012443	Abnormality of brain morphology	9829	DNAJC6	ORPHA:391411
HP:0012443	Abnormality of brain morphology	5420	PODXL	ORPHA:391411
HP:0012443	Abnormality of brain morphology	51611	DPH5	OMIM:620070
HP:0012443	Abnormality of brain morphology	57570	TRMT5	OMIM:616539
HP:0012443	Abnormality of brain morphology	4488	MSX2	ORPHA:60015
HP:0012443	Abnormality of brain morphology	4791	NFKB2	ORPHA:293978
HP:0012443	Abnormality of brain morphology	55131	RBM28	OMIM:612079
HP:0012443	Abnormality of brain morphology	23031	MAST3	OMIM:620115
HP:0012443	Abnormality of brain morphology	2693	GHSR	OMIM:615925
HP:0012443	Abnormality of brain morphology	6477	SIAH1	OMIM:619314
HP:0012443	Abnormality of brain morphology	57104	PNPLA2	ORPHA:98908
HP:0012443	Abnormality of brain morphology	1352	COX10	OMIM:619046
HP:0012443	Abnormality of brain morphology	23474	ETHE1	ORPHA:51188
HP:0012443	Abnormality of brain morphology	84705	GTPBP3	ORPHA:444013
HP:0012443	Abnormality of brain morphology	11235	PDCD10	ORPHA:221061
HP:0012443	Abnormality of brain morphology	10398	MYL9	OMIM:619365
HP:0012443	Abnormality of brain morphology	7025	NR2F1	ORPHA:401777
HP:0012443	Abnormality of brain morphology	387119	CEP85L	ORPHA:572013
HP:0012443	Abnormality of brain morphology	6335	SCN9A	ORPHA:33069
HP:0012443	Abnormality of brain morphology	2554	GABRA1	ORPHA:33069
HP:0012443	Abnormality of brain morphology	4522	MTHFD1	OMIM:617780
HP:0012443	Abnormality of brain morphology	410	ARSA	ORPHA:309271
HP:0012443	Abnormality of brain morphology	410	ARSA	ORPHA:309263
HP:0012443	Abnormality of brain morphology	410	ARSA	ORPHA:309256
HP:0012443	Abnormality of brain morphology	4193	MDM2	ORPHA:524
HP:0012443	Abnormality of brain morphology	11200	CHEK2	ORPHA:524
HP:0012443	Abnormality of brain morphology	324	APC	ORPHA:99818
HP:0012443	Abnormality of brain morphology	324	APC	ORPHA:79665
HP:0012443	Abnormality of brain morphology	5426	POLE	ORPHA:447877
HP:0012443	Abnormality of brain morphology	5424	POLD1	ORPHA:447877
HP:0012443	Abnormality of brain morphology	7373	COL14A1	ORPHA:79501
HP:0012443	Abnormality of brain morphology	79719	AAGAB	ORPHA:79501
HP:0012443	Abnormality of brain morphology	65998	ZFTA	ORPHA:251636
HP:0012443	Abnormality of brain morphology	5970	RELA	ORPHA:251636
HP:0012443	Abnormality of brain morphology	1906	EDN1	ORPHA:137888
HP:0012443	Abnormality of brain morphology	5332	PLCB4	ORPHA:137888
HP:0012443	Abnormality of brain morphology	2773	GNAI3	ORPHA:137888
HP:0012443	Abnormality of brain morphology	2157	F8	ORPHA:169805
HP:0012443	Abnormality of brain morphology	4774	NFIA	ORPHA:401986
HP:0012443	Abnormality of brain morphology	55788	LMBRD1	ORPHA:79284
HP:0012443	Abnormality of brain morphology	284058	KANSL1	ORPHA:363965
HP:0012443	Abnormality of brain morphology	284058	KANSL1	ORPHA:363958
HP:0012443	Abnormality of brain morphology	6678	SPARC	OMIM:616507
HP:0012443	Abnormality of brain morphology	165918	RNF168	ORPHA:420741
HP:0012443	Abnormality of brain morphology	100131801	PET100	OMIM:619055
HP:0012443	Abnormality of brain morphology	92935	MARS2	OMIM:616430
HP:0012443	Abnormality of brain morphology	79853	TM4SF20	OMIM:615432
HP:0012443	Abnormality of brain morphology	1822	ATN1	ORPHA:101
HP:0012443	Abnormality of brain morphology	221496	LEMD2	OMIM:619322
HP:0012443	Abnormality of brain morphology	5917	RARS1	ORPHA:438114
HP:0012443	Abnormality of brain morphology	63899	NSUN3	OMIM:619012
HP:0012443	Abnormality of brain morphology	6572	SLC18A3	OMIM:617239
HP:0012443	Abnormality of brain morphology	815	CAMK2A	OMIM:617798
HP:0012443	Abnormality of brain morphology	6821	SUOX	OMIM:272300
HP:0012443	Abnormality of brain morphology	9420	CYP7B1	OMIM:270800
HP:0012443	Abnormality of brain morphology	6390	SDHB	OMIM:619224
HP:0012443	Abnormality of brain morphology	9907	AP5Z1	ORPHA:306511
HP:0012443	Abnormality of brain morphology	9907	AP5Z1	OMIM:613647
HP:0012443	Abnormality of brain morphology	55154	MSTO1	ORPHA:502423
HP:0012443	Abnormality of brain morphology	84065	TMEM222	OMIM:619470
HP:0012443	Abnormality of brain morphology	7555	CNBP	OMIM:602668
HP:0012443	Abnormality of brain morphology	6134	RPL10	OMIM:300998
HP:0012443	Abnormality of brain morphology	5058	PAK1	OMIM:618158
HP:0012443	Abnormality of brain morphology	7920	ABHD16A	OMIM:619735
HP:0012443	Abnormality of brain morphology	85465	SELENOI	OMIM:618768
HP:0012443	Abnormality of brain morphology	10060	ABCC9	OMIM:619719
HP:0012443	Abnormality of brain morphology	23503	ZFYVE26	ORPHA:100996
HP:0012443	Abnormality of brain morphology	213	ALB	OMIM:615999
HP:0012443	Abnormality of brain morphology	7234	TRU-TCA1-1	OMIM:620198
HP:0012443	Abnormality of brain morphology	1363	CPE	OMIM:619326
HP:0012443	Abnormality of brain morphology	100134444	KCNJ18	OMIM:613239
HP:0012443	Abnormality of brain morphology	7283	TUBG1	OMIM:615412
HP:0012443	Abnormality of brain morphology	3796	KIF2A	OMIM:615411
HP:0012443	Abnormality of brain morphology	2065	ERBB3	OMIM:243180
HP:0012443	Abnormality of brain morphology	9757	KMT2B	ORPHA:589618
HP:0012443	Abnormality of brain morphology	8471	IRS4	OMIM:301035
HP:0012443	Abnormality of brain morphology	6907	TBL1X	OMIM:301033
HP:0012443	Abnormality of brain morphology	3547	IGSF1	OMIM:300888
HP:0012443	Abnormality of brain morphology	490	ATP2B1	OMIM:619910
HP:0012443	Abnormality of brain morphology	5443	POMC	OMIM:609734
HP:0012443	Abnormality of brain morphology	6900	CNTN2	OMIM:615400
HP:0012443	Abnormality of brain morphology	1119	CHKA	OMIM:620023
HP:0012443	Abnormality of brain morphology	11198	SUPT16H	OMIM:619480
HP:0012443	Abnormality of brain morphology	55182	RNF220	OMIM:619688
HP:0012443	Abnormality of brain morphology	6595	SMARCA2	OMIM:619293
HP:0012443	Abnormality of brain morphology	7143	TNR	OMIM:619653
HP:0012443	Abnormality of brain morphology	92255	LMBRD2	OMIM:619694
HP:0012443	Abnormality of brain morphology	9439	MED23	OMIM:614249
HP:0012443	Abnormality of brain morphology	26175	LYSET	OMIM:619345
HP:0012443	Abnormality of brain morphology	10367	MICU1	OMIM:615673
HP:0012443	Abnormality of brain morphology	1725	DHPS	OMIM:618480
HP:0012443	Abnormality of brain morphology	540	ATP7B	OMIM:277900
HP:0012443	Abnormality of brain morphology	1893	ECM1	OMIM:247100
HP:0012443	Abnormality of brain morphology	7862	BRPF1	OMIM:617333
HP:0012443	Abnormality of brain morphology	343450	KCNT2	OMIM:617771
HP:0012443	Abnormality of brain morphology	4695	NDUFA2	OMIM:618235
HP:0012443	Abnormality of brain morphology	3658	IREB2	OMIM:618451
HP:0012443	Abnormality of brain morphology	10695	CNPY3	OMIM:617929
HP:0012443	Abnormality of brain morphology	84667	HES7	OMIM:613686
HP:0012443	Abnormality of brain morphology	116519	APOA5	OMIM:145750
HP:0012443	Abnormality of brain morphology	5455	POU3F3	OMIM:618604
HP:0012443	Abnormality of brain morphology	10371	SEMA3A	OMIM:614897
HP:0012443	Abnormality of brain morphology	23347	SMCHD1	ORPHA:2250
HP:0012443	Abnormality of brain morphology	54704	PDP1	ORPHA:79246
HP:0012443	Abnormality of brain morphology	2643	GCH1	ORPHA:98808
HP:0012443	Abnormality of brain morphology	3615	IMPDH2	ORPHA:98808
HP:0012443	Abnormality of brain morphology	10846	PDE10A	OMIM:616921
HP:0012443	Abnormality of brain morphology	10846	PDE10A	ORPHA:494526
HP:0012443	Abnormality of brain morphology	6857	SYT1	ORPHA:522077
HP:0012443	Abnormality of brain morphology	686	BTD	OMIM:253260
HP:0012443	Abnormality of brain morphology	819	CAMLG	OMIM:620201
HP:0012443	Abnormality of brain morphology	1785	DNM2	OMIM:615368
HP:0012443	Abnormality of brain morphology	5054	SERPINE1	ORPHA:465
HP:0012443	Abnormality of brain morphology	2243	FGA	OMIM:202400
HP:0012443	Abnormality of brain morphology	2244	FGB	OMIM:202400
HP:0012443	Abnormality of brain morphology	2266	FGG	OMIM:202400
HP:0012443	Abnormality of brain morphology	10526	IPO8	OMIM:619472
HP:0012443	Abnormality of brain morphology	5071	PRKN	OMIM:600116
HP:0012443	Abnormality of brain morphology	25793	FBXO7	ORPHA:171695
HP:0012443	Abnormality of brain morphology	7072	TIA1	OMIM:619133
HP:0012443	Abnormality of brain morphology	2747	GLUD2	OMIM:168600
HP:0012443	Abnormality of brain morphology	126	ADH1C	OMIM:168600
HP:0012443	Abnormality of brain morphology	4929	NR4A2	OMIM:168600
HP:0012443	Abnormality of brain morphology	4576	MT-TT	OMIM:168600
HP:0012443	Abnormality of brain morphology	9627	SNCAIP	OMIM:168600
HP:0012443	Abnormality of brain morphology	6620	SNCB	OMIM:127750
HP:0012443	Abnormality of brain morphology	7957	EPM2A	OMIM:254780
HP:0012443	Abnormality of brain morphology	7957	EPM2A	ORPHA:501
HP:0012443	Abnormality of brain morphology	378884	NHLRC1	OMIM:254780
HP:0012443	Abnormality of brain morphology	378884	NHLRC1	ORPHA:501
HP:0012443	Abnormality of brain morphology	56978	PRDM8	ORPHA:324290
HP:0012443	Abnormality of brain morphology	56978	PRDM8	OMIM:616640
HP:0012443	Abnormality of brain morphology	1356	CP	ORPHA:48818
HP:0012443	Abnormality of brain morphology	9820	CUL7	ORPHA:2616
HP:0012443	Abnormality of brain morphology	23363	OBSL1	ORPHA:2616
HP:0012443	Abnormality of brain morphology	83987	CCDC8	ORPHA:2616
HP:0012443	Abnormality of brain morphology	7486	WRN	ORPHA:902
HP:0012443	Abnormality of brain morphology	5627	PROS1	ORPHA:743
HP:0012443	Abnormality of brain morphology	5624	PROC	ORPHA:745
HP:0012443	Abnormality of brain morphology	56922	MCCC1	ORPHA:6
HP:0012443	Abnormality of brain morphology	64087	MCCC2	ORPHA:6
HP:0012443	Abnormality of brain morphology	2050	EPHB4	ORPHA:1053
HP:0012443	Abnormality of brain morphology	326	AIRE	ORPHA:3453
HP:0012443	Abnormality of brain morphology	55717	WDR11	ORPHA:95496
HP:0012443	Abnormality of brain morphology	6091	ROBO1	ORPHA:95496
HP:0012443	Abnormality of brain morphology	23432	GPR161	ORPHA:95496
HP:0012443	Abnormality of brain morphology	54805	CNNM2	OMIM:616418
HP:0012443	Abnormality of brain morphology	26005	C2CD3	ORPHA:434179
HP:0012443	Abnormality of brain morphology	4047	LSS	ORPHA:2850
HP:0012443	Abnormality of brain morphology	197	AHSG	ORPHA:2850
HP:0012443	Abnormality of brain morphology	3694	ITGB6	ORPHA:2850
HP:0012443	Abnormality of brain morphology	57094	CPA6	OMIM:614418
HP:0012443	Abnormality of brain morphology	100144748	KLLN	OMIM:615107
HP:0002230	Generalized hirsutism	23476	BRD4	ORPHA:199
HP:0002230	Generalized hirsutism	9126	SMC3	ORPHA:199
HP:0002230	Generalized hirsutism	8243	SMC1A	ORPHA:199
HP:0002230	Generalized hirsutism	25836	NIPBL	ORPHA:199
HP:0002230	Generalized hirsutism	55869	HDAC8	ORPHA:199
HP:0002230	Generalized hirsutism	5885	RAD21	ORPHA:199
HP:0002230	Generalized hirsutism	92482	BBIP1	ORPHA:110
HP:0002230	Generalized hirsutism	80184	CEP290	ORPHA:110
HP:0002230	Generalized hirsutism	11020	IFT27	ORPHA:110
HP:0002230	Generalized hirsutism	582	BBS1	ORPHA:110
HP:0002230	Generalized hirsutism	49855	SCAPER	ORPHA:110
HP:0002230	Generalized hirsutism	4867	NPHP1	ORPHA:110
HP:0002230	Generalized hirsutism	51057	WDPCP	ORPHA:110
HP:0002230	Generalized hirsutism	27241	BBS9	ORPHA:110
HP:0002230	Generalized hirsutism	84984	CEP19	ORPHA:110
HP:0002230	Generalized hirsutism	22954	TRIM32	ORPHA:110
HP:0002230	Generalized hirsutism	54903	MKS1	ORPHA:110
HP:0002230	Generalized hirsutism	79738	BBS10	ORPHA:110
HP:0002230	Generalized hirsutism	123016	TTC8	ORPHA:110
HP:0002230	Generalized hirsutism	26160	IFT172	ORPHA:110
HP:0002230	Generalized hirsutism	583	BBS2	ORPHA:110
HP:0002230	Generalized hirsutism	585	BBS4	ORPHA:110
HP:0002230	Generalized hirsutism	8195	MKKS	ORPHA:110
HP:0002230	Generalized hirsutism	54585	LZTFL1	ORPHA:110
HP:0002230	Generalized hirsutism	55212	BBS7	ORPHA:110
HP:0002230	Generalized hirsutism	166379	BBS12	ORPHA:110
HP:0002230	Generalized hirsutism	10806	SDCCAG8	ORPHA:110
HP:0002230	Generalized hirsutism	157657	CFAP418	ORPHA:110
HP:0002230	Generalized hirsutism	84100	ARL6	ORPHA:110
HP:0002230	Generalized hirsutism	129880	BBS5	ORPHA:110
HP:0002230	Generalized hirsutism	80173	IFT74	ORPHA:110
HP:0002230	Generalized hirsutism	29957	SLC25A24	ORPHA:2095
HP:0002230	Generalized hirsutism	29957	SLC25A24	ORPHA:2963
HP:0002230	Generalized hirsutism	3643	INSR	ORPHA:2297
HP:0002230	Generalized hirsutism	5593	PRKG2	OMIM:619636
HP:0002230	Generalized hirsutism	4157	MC1R	ORPHA:626
HP:0002230	Generalized hirsutism	4893	NRAS	ORPHA:626
HP:0002230	Generalized hirsutism	55777	MBD5	ORPHA:228402
HP:0002230	Generalized hirsutism	5590	PRKCZ	ORPHA:1606
HP:0002230	Generalized hirsutism	2563	GABRD	ORPHA:1606
HP:0002230	Generalized hirsutism	23013	SPEN	ORPHA:1606
HP:0002230	Generalized hirsutism	8510	MMP23B	ORPHA:1606
HP:0002230	Generalized hirsutism	7798	LUZP1	ORPHA:1606
HP:0002230	Generalized hirsutism	6497	SKI	ORPHA:1606
HP:0002230	Generalized hirsutism	10630	PDPN	ORPHA:1606
HP:0002230	Generalized hirsutism	3339	HSPG2	ORPHA:1606
HP:0002230	Generalized hirsutism	3339	HSPG2	OMIM:255800
HP:0002230	Generalized hirsutism	3339	HSPG2	ORPHA:800
HP:0002230	Generalized hirsutism	10277	UBE4B	ORPHA:1606
HP:0002230	Generalized hirsutism	8514	KCNAB2	ORPHA:1606
HP:0002230	Generalized hirsutism	473	RERE	ORPHA:1606
HP:0002230	Generalized hirsutism	63976	PRDM16	ORPHA:1606
HP:0002230	Generalized hirsutism	54897	CASZ1	ORPHA:1606
HP:0002230	Generalized hirsutism	3425	IDUA	ORPHA:93473
HP:0002230	Generalized hirsutism	3425	IDUA	ORPHA:93476
HP:0002230	Generalized hirsutism	5184	PEPD	ORPHA:742
HP:0002230	Generalized hirsutism	5728	PTEN	ORPHA:744
HP:0002230	Generalized hirsutism	207	AKT1	ORPHA:744
HP:0002230	Generalized hirsutism	26580	BSCL2	ORPHA:363400
HP:0002230	Generalized hirsutism	5594	MAPK1	OMIM:619087
HP:0002230	Generalized hirsutism	63916	ELMO2	ORPHA:3019
HP:0002230	Generalized hirsutism	6608	SMO	ORPHA:1553
HP:0002230	Generalized hirsutism	117581	TWIST2	ORPHA:1231
HP:0002230	Generalized hirsutism	7291	TWIST1	OMIM:617746
HP:0002230	Generalized hirsutism	3764	KCNJ8	ORPHA:1517
HP:0002230	Generalized hirsutism	10060	ABCC9	ORPHA:1517
HP:0002230	Generalized hirsutism	4297	KMT2A	OMIM:605130
HP:0002230	Generalized hirsutism	4297	KMT2A	ORPHA:319182
HP:0002230	Generalized hirsutism	4000	LMNA	ORPHA:280365
HP:0002230	Generalized hirsutism	4000	LMNA	ORPHA:2348
HP:0002230	Generalized hirsutism	10020	GNE	OMIM:269921
HP:0002230	Generalized hirsutism	3664	IRF6	ORPHA:1300
HP:0002230	Generalized hirsutism	5468	PPARG	ORPHA:79083
HP:0002230	Generalized hirsutism	84823	LMNB2	ORPHA:79087
HP:0002230	Generalized hirsutism	83550	GPR101	ORPHA:963
HP:0002230	Generalized hirsutism	9049	AIP	ORPHA:963
HP:0002230	Generalized hirsutism	22930	RAB3GAP1	ORPHA:2510
HP:0002230	Generalized hirsutism	25782	RAB3GAP2	ORPHA:2510
HP:0002230	Generalized hirsutism	22931	RAB18	ORPHA:2510
HP:0002230	Generalized hirsutism	128637	TBC1D20	ORPHA:2510
HP:0002230	Generalized hirsutism	8604	SLC25A12	OMIM:612949
HP:0002230	Generalized hirsutism	4784	NFIX	ORPHA:561
HP:0002230	Generalized hirsutism	23461	ABCA5	ORPHA:2026
HP:0002230	Generalized hirsutism	203068	TUBB	ORPHA:2505
HP:0002230	Generalized hirsutism	10982	MAPRE2	ORPHA:2505
HP:0002230	Generalized hirsutism	649	BMP1	OMIM:614856
HP:0002230	Generalized hirsutism	7319	UBE2A	ORPHA:163956
HP:0002230	Generalized hirsutism	170302	ARX	ORPHA:2508
HP:0002230	Generalized hirsutism	2697	GJA1	ORPHA:317
HP:0002230	Generalized hirsutism	2707	GJB3	ORPHA:317
HP:0002230	Generalized hirsutism	2531	KDSR	ORPHA:317
HP:0002230	Generalized hirsutism	127534	GJB4	ORPHA:317
HP:0002230	Generalized hirsutism	4853	NOTCH2	ORPHA:955
HP:0002230	Generalized hirsutism	8803	SUCLA2	ORPHA:1933
HP:0002230	Generalized hirsutism	1588	CYP19A1	ORPHA:91
HP:0002230	Generalized hirsutism	1075	CTSC	ORPHA:678
HP:0002231	Sparse body hair	2260	FGFR1	ORPHA:432
HP:0002231	Sparse body hair	81848	SPRY4	ORPHA:432
HP:0002231	Sparse body hair	128674	PROKR2	ORPHA:432
HP:0002231	Sparse body hair	2253	FGF8	ORPHA:432
HP:0002231	Sparse body hair	60675	PROK2	ORPHA:432
HP:0002231	Sparse body hair	55636	CHD7	ORPHA:432
HP:0002231	Sparse body hair	6870	TACR3	ORPHA:432
HP:0002231	Sparse body hair	1848	DUSP6	ORPHA:432
HP:0002231	Sparse body hair	26012	NSMF	ORPHA:432
HP:0002231	Sparse body hair	55717	WDR11	ORPHA:432
HP:0002231	Sparse body hair	9394	HS6ST1	ORPHA:432
HP:0002231	Sparse body hair	2796	GNRH1	ORPHA:432
HP:0002231	Sparse body hair	2798	GNRHR	ORPHA:432
HP:0002231	Sparse body hair	84634	KISS1R	ORPHA:432
HP:0002231	Sparse body hair	6866	TAC3	ORPHA:432
HP:0002231	Sparse body hair	8822	FGF17	ORPHA:432
HP:0002231	Sparse body hair	3814	KISS1	ORPHA:432
HP:0002231	Sparse body hair	147495	APCDD1	OMIM:605389
HP:0002231	Sparse body hair	147495	APCDD1	ORPHA:55654
HP:0002231	Sparse body hair	8313	AXIN2	OMIM:608615
HP:0002231	Sparse body hair	200879	LIPH	OMIM:604379
HP:0002231	Sparse body hair	200879	LIPH	ORPHA:55654
HP:0002231	Sparse body hair	200879	LIPH	ORPHA:170
HP:0002231	Sparse body hair	80326	WNT10A	OMIM:224750
HP:0002231	Sparse body hair	80326	WNT10A	OMIM:150400
HP:0002231	Sparse body hair	80326	WNT10A	OMIM:257980
HP:0002231	Sparse body hair	54800	KLHL24	OMIM:617294
HP:0002231	Sparse body hair	128178	EDARADD	OMIM:614941
HP:0002231	Sparse body hair	128178	EDARADD	ORPHA:1810
HP:0002231	Sparse body hair	4047	LSS	ORPHA:2850
HP:0002231	Sparse body hair	4047	LSS	ORPHA:55654
HP:0002231	Sparse body hair	4047	LSS	OMIM:618275
HP:0002231	Sparse body hair	197	AHSG	ORPHA:2850
HP:0002231	Sparse body hair	3694	ITGB6	ORPHA:2850
HP:0002231	Sparse body hair	3891	KRT85	OMIM:602032
HP:0002231	Sparse body hair	6144	RPL21	ORPHA:55654
HP:0002231	Sparse body hair	147409	DSG4	ORPHA:55654
HP:0002231	Sparse body hair	6635	SNRPE	ORPHA:55654
HP:0002231	Sparse body hair	10161	LPAR6	ORPHA:55654
HP:0002231	Sparse body hair	10161	LPAR6	ORPHA:170
HP:0002231	Sparse body hair	26137	ZBTB20	OMIM:259050
HP:0002231	Sparse body hair	3728	JUP	OMIM:601214
HP:0002231	Sparse body hair	60401	EDA2R	ORPHA:181
HP:0002231	Sparse body hair	1896	EDA	ORPHA:181
HP:0002231	Sparse body hair	1896	EDA	OMIM:305100
HP:0002231	Sparse body hair	25959	KANK2	OMIM:616099
HP:0002231	Sparse body hair	1528	CYB5A	ORPHA:90796
HP:0002231	Sparse body hair	1586	CYP17A1	ORPHA:90796
HP:0002231	Sparse body hair	54345	SOX18	ORPHA:69735
HP:0002231	Sparse body hair	1825	DSC3	OMIM:613102
HP:0002231	Sparse body hair	9076	CLDN1	ORPHA:59303
HP:0002231	Sparse body hair	8626	TP63	OMIM:106260
HP:0002231	Sparse body hair	112802	KRT71	ORPHA:170
HP:0002231	Sparse body hair	121391	KRT74	ORPHA:170
HP:0002231	Sparse body hair	147183	KRT25	ORPHA:170
HP:0002231	Sparse body hair	2332	FMR1	ORPHA:261483
HP:0002231	Sparse body hair	3909	LAMA3	ORPHA:79402
HP:0002231	Sparse body hair	1308	COL17A1	ORPHA:79402
HP:0002231	Sparse body hair	3918	LAMC2	ORPHA:79402
HP:0002231	Sparse body hair	3691	ITGB4	ORPHA:79402
HP:0002231	Sparse body hair	3914	LAMB3	ORPHA:79402
HP:0002231	Sparse body hair	6768	ST14	OMIM:602400
HP:0002231	Sparse body hair	120766137	HRURF	OMIM:146550
HP:0002231	Sparse body hair	1474	CST6	OMIM:618535
HP:0002231	Sparse body hair	4000	LMNA	ORPHA:79474
HP:0002231	Sparse body hair	7189	TRAF6	ORPHA:1810
HP:0002231	Sparse body hair	126695	KDF1	ORPHA:1810
HP:0002231	Sparse body hair	10913	EDAR	ORPHA:1810
HP:0002231	Sparse body hair	1001	CDH3	ORPHA:1897
HP:0002231	Sparse body hair	1075	CTSC	ORPHA:678
HP:0002234	Early balding	84168	ANTXR1	ORPHA:2067
HP:0002234	Early balding	324	APC	ORPHA:261584
HP:0002235	Pili canaliculi	51702	PADI3	OMIM:191480
HP:0002235	Pili canaliculi	8626	TP63	OMIM:129400
HP:0002235	Pili canaliculi	7062	TCHH	OMIM:617252
HP:0002235	Pili canaliculi	7053	TGM3	OMIM:617251
HP:0002235	Pili canaliculi	8139	GAN	ORPHA:643
HP:0002236	Frontal upsweep of hair	7528	YY1	ORPHA:506358
HP:0002236	Frontal upsweep of hair	7528	YY1	OMIM:617557
HP:0002236	Frontal upsweep of hair	5422	POLA1	OMIM:301220
HP:0002236	Frontal upsweep of hair	9759	HDAC4	OMIM:619797
HP:0002236	Frontal upsweep of hair	8473	OGT	OMIM:300997
HP:0002236	Frontal upsweep of hair	1387	CREBBP	OMIM:180849
HP:0002236	Frontal upsweep of hair	2033	EP300	OMIM:180849
HP:0002236	Frontal upsweep of hair	815	CAMK2A	OMIM:617798
HP:0002236	Frontal upsweep of hair	9968	MED12	ORPHA:93932
HP:0002236	Frontal upsweep of hair	9968	MED12	OMIM:305450
HP:0002236	Frontal upsweep of hair	23389	MED13L	ORPHA:369891
HP:0002236	Frontal upsweep of hair	7681	MKRN3	OMIM:176270
HP:0002236	Frontal upsweep of hair	3653	IPW	OMIM:176270
HP:0002236	Frontal upsweep of hair	54551	MAGEL2	OMIM:176270
HP:0002236	Frontal upsweep of hair	791114	PWRN1	OMIM:176270
HP:0002236	Frontal upsweep of hair	100033413	SNORD116-1	OMIM:176270
HP:0002236	Frontal upsweep of hair	8924	HERC2	OMIM:176270
HP:0002236	Frontal upsweep of hair	145624	PWAR1	OMIM:176270
HP:0002236	Frontal upsweep of hair	23742	NPAP1	OMIM:176270
HP:0002236	Frontal upsweep of hair	338433	SNORD115-1	OMIM:176270
HP:0002236	Frontal upsweep of hair	2316	FLNA	OMIM:300321
HP:0002236	Frontal upsweep of hair	7204	TRIO	OMIM:617061
HP:0002236	Frontal upsweep of hair	197131	UBR1	OMIM:243800
HP:0002236	Frontal upsweep of hair	9742	IFT140	OMIM:266920
HP:0002236	Frontal upsweep of hair	27086	FOXP1	ORPHA:391372
HP:0002236	Frontal upsweep of hair	9758	FRMPD4	OMIM:300983
HP:0002236	Frontal upsweep of hair	9442	MED27	OMIM:619286
HP:0002236	Frontal upsweep of hair	55012	PPP2R3C	OMIM:618419
HP:0002236	Frontal upsweep of hair	23261	CAMTA1	OMIM:614756
HP:0002236	Frontal upsweep of hair	6925	TCF4	OMIM:610954
HP:0008070	Sparse hair	60529	ALX4	OMIM:613451
HP:0008070	Sparse hair	8092	ALX1	OMIM:613456
HP:0008070	Sparse hair	8092	ALX1	ORPHA:306542
HP:0008070	Sparse hair	57539	WDR35	OMIM:613610
HP:0008070	Sparse hair	7298	TYMS	OMIM:620040
HP:0008070	Sparse hair	83999	KREMEN1	OMIM:617392
HP:0008070	Sparse hair	10265	IRX5	OMIM:611174
HP:0008070	Sparse hair	22845	DOLK	OMIM:610768
HP:0008070	Sparse hair	7286	TUFT1	OMIM:607655
HP:0008070	Sparse hair	1301	COL11A1	ORPHA:560
HP:0008070	Sparse hair	10682	EBP	ORPHA:35173
HP:0008070	Sparse hair	10682	EBP	OMIM:302960
HP:0008070	Sparse hair	374393	FAM111B	OMIM:615704
HP:0008070	Sparse hair	117581	TWIST2	OMIM:209885
HP:0008070	Sparse hair	1909	EDNRA	OMIM:616367
HP:0008070	Sparse hair	10283	CWC27	OMIM:250410
HP:0008070	Sparse hair	51611	DPH5	OMIM:620070
HP:0008070	Sparse hair	5605	MAP2K2	OMIM:615280
HP:0008070	Sparse hair	54676	GTPBP2	OMIM:617988
HP:0008070	Sparse hair	4763	NF1	ORPHA:139474
HP:0008070	Sparse hair	1748	DLX4	OMIM:616788
HP:0008070	Sparse hair	84168	ANTXR1	OMIM:230740
HP:0008070	Sparse hair	84168	ANTXR1	ORPHA:2067
HP:0008070	Sparse hair	10269	ZMPSTE24	OMIM:275210
HP:0008070	Sparse hair	641	BLM	ORPHA:125
HP:0008070	Sparse hair	90121	TSR2	OMIM:300946
HP:0008070	Sparse hair	875	CBS	ORPHA:394
HP:0008070	Sparse hair	8036	SHOC2	OMIM:607721
HP:0008070	Sparse hair	8036	SHOC2	ORPHA:2701
HP:0008070	Sparse hair	23394	ADNP	ORPHA:404448
HP:0008070	Sparse hair	54084	TSPEAR	OMIM:618180
HP:0008070	Sparse hair	81607	NECTIN4	OMIM:613573
HP:0008070	Sparse hair	100151683	RNU4ATAC	OMIM:210710
HP:0008070	Sparse hair	10054	UBA2	OMIM:619959
HP:0008070	Sparse hair	9759	HDAC4	ORPHA:1001
HP:0008070	Sparse hair	775	CACNA1C	OMIM:620029
HP:0008070	Sparse hair	9401	RECQL4	OMIM:268400
HP:0008070	Sparse hair	9401	RECQL4	OMIM:266280
HP:0008070	Sparse hair	2706	GJB2	OMIM:602540
HP:0008070	Sparse hair	197131	UBR1	OMIM:243800
HP:0008070	Sparse hair	267010	RNU12	OMIM:603116
HP:0008070	Sparse hair	54453	RIN2	ORPHA:217335
HP:0008070	Sparse hair	9578	CDC42BPB	OMIM:619841
HP:0008070	Sparse hair	29998	BICRA	OMIM:619325
HP:0008070	Sparse hair	4792	NFKBIA	OMIM:612132
HP:0008070	Sparse hair	4953	ODC1	ORPHA:544488
HP:0008070	Sparse hair	4953	ODC1	OMIM:619075
HP:0008070	Sparse hair	3872	KRT17	OMIM:167210
HP:0008070	Sparse hair	26128	KIFBP	ORPHA:66629
HP:0008070	Sparse hair	4952	OCRL	ORPHA:534
HP:0008070	Sparse hair	6595	SMARCA2	OMIM:619293
HP:0008070	Sparse hair	6595	SMARCA2	OMIM:601358
HP:0008070	Sparse hair	84196	USP48	ORPHA:96253
HP:0008070	Sparse hair	7157	TP53	ORPHA:96253
HP:0008070	Sparse hair	9101	USP8	ORPHA:96253
HP:0008070	Sparse hair	64072	CDH23	ORPHA:96253
HP:0008070	Sparse hair	2908	NR3C1	ORPHA:96253
HP:0008070	Sparse hair	673	BRAF	ORPHA:96253
HP:0008070	Sparse hair	673	BRAF	ORPHA:840
HP:0008070	Sparse hair	546	ATRX	ORPHA:96253
HP:0008070	Sparse hair	57492	ARID1B	OMIM:135900
HP:0008070	Sparse hair	57492	ARID1B	ORPHA:1465
HP:0008070	Sparse hair	6601	SMARCC2	OMIM:618362
HP:0008070	Sparse hair	6601	SMARCC2	ORPHA:1465
HP:0008070	Sparse hair	23522	KAT6B	OMIM:606170
HP:0008070	Sparse hair	23522	KAT6B	ORPHA:85201
HP:0008070	Sparse hair	1041	CDSN	OMIM:146520
HP:0008070	Sparse hair	1041	CDSN	ORPHA:90368
HP:0008070	Sparse hair	6597	SMARCA4	ORPHA:1465
HP:0008070	Sparse hair	6597	SMARCA4	OMIM:614609
HP:0008070	Sparse hair	6598	SMARCB1	ORPHA:1465
HP:0008070	Sparse hair	6598	SMARCB1	OMIM:614608
HP:0008070	Sparse hair	6659	SOX4	ORPHA:1465
HP:0008070	Sparse hair	8289	ARID1A	ORPHA:1465
HP:0008070	Sparse hair	8289	ARID1A	OMIM:614607
HP:0008070	Sparse hair	5977	DPF2	ORPHA:1465
HP:0008070	Sparse hair	5977	DPF2	OMIM:618027
HP:0008070	Sparse hair	6602	SMARCD1	ORPHA:1465
HP:0008070	Sparse hair	196528	ARID2	ORPHA:1465
HP:0008070	Sparse hair	6605	SMARCE1	ORPHA:1465
HP:0008070	Sparse hair	6605	SMARCE1	OMIM:616938
HP:0008070	Sparse hair	6664	SOX11	ORPHA:1465
HP:0008070	Sparse hair	6664	SOX11	OMIM:615866
HP:0008070	Sparse hair	81857	MED25	ORPHA:464738
HP:0008070	Sparse hair	1801	DPH1	OMIM:616901
HP:0008070	Sparse hair	1801	DPH1	ORPHA:459061
HP:0008070	Sparse hair	79574	EPS8L3	ORPHA:444
HP:0008070	Sparse hair	55806	HR	ORPHA:444
HP:0008070	Sparse hair	7703	PCGF2	OMIM:618371
HP:0008070	Sparse hair	857	CAV1	OMIM:606721
HP:0008070	Sparse hair	9896	FIG4	ORPHA:3472
HP:0008070	Sparse hair	9896	FIG4	OMIM:216340
HP:0008070	Sparse hair	55697	VAC14	ORPHA:3472
HP:0008070	Sparse hair	23028	KDM1A	ORPHA:477993
HP:0008070	Sparse hair	5500	PPP1CB	ORPHA:2701
HP:0008070	Sparse hair	4914	NTRK1	OMIM:256800
HP:0008070	Sparse hair	2783	GNB2	OMIM:619503
HP:0008070	Sparse hair	5116	PCNT	OMIM:210720
HP:0008070	Sparse hair	5116	PCNT	ORPHA:808
HP:0008070	Sparse hair	9419	CRIPT	OMIM:615789
HP:0008070	Sparse hair	79669	C3orf52	OMIM:620177
HP:0008070	Sparse hair	11285	B4GALT7	ORPHA:75496
HP:0008070	Sparse hair	11285	B4GALT7	OMIM:130070
HP:0008070	Sparse hair	1802	DPH2	OMIM:620062
HP:0008070	Sparse hair	3981	LIG4	ORPHA:235
HP:0008070	Sparse hair	54888	NSUN2	ORPHA:235
HP:0008070	Sparse hair	10526	IPO8	OMIM:619472
HP:0008070	Sparse hair	55651	NHP2	OMIM:224230
HP:0008070	Sparse hair	55505	NOP10	OMIM:224230
HP:0008070	Sparse hair	29957	SLC25A24	OMIM:612289
HP:0008070	Sparse hair	3122	HLA-DRA	ORPHA:505
HP:0008070	Sparse hair	11128	POLR3A	OMIM:264090
HP:0008070	Sparse hair	11128	POLR3A	ORPHA:3455
HP:0008070	Sparse hair	3675	ITGA3	OMIM:614748
HP:0008070	Sparse hair	7486	WRN	ORPHA:902
HP:0008070	Sparse hair	2131	EXT1	ORPHA:502
HP:0008070	Sparse hair	7227	TRPS1	ORPHA:502
HP:0008070	Sparse hair	10804	GJB6	ORPHA:189
HP:0008070	Sparse hair	51360	MBTPS2	OMIM:308205
HP:0008070	Sparse hair	4094	MAF	ORPHA:1272
HP:0008070	Sparse hair	4094	MAF	OMIM:601088
HP:0008070	Sparse hair	11005	SPINK5	OMIM:256500
HP:0008070	Sparse hair	11005	SPINK5	ORPHA:634
HP:0008070	Sparse hair	79971	WLS	OMIM:619648
HP:0008070	Sparse hair	84946	LTV1	OMIM:620199
HP:0008070	Sparse hair	126792	B3GALT6	OMIM:271640
HP:0008070	Sparse hair	1984	EIF5A	OMIM:619376
HP:0008070	Sparse hair	8815	BANF1	OMIM:614008
HP:0008070	Sparse hair	545	ATR	ORPHA:808
HP:0008070	Sparse hair	1062	CENPE	ORPHA:808
HP:0008070	Sparse hair	5932	RBBP8	ORPHA:808
HP:0008070	Sparse hair	79902	NUP85	ORPHA:808
HP:0008070	Sparse hair	84126	ATRIP	ORPHA:808
HP:0008070	Sparse hair	55835	CENPJ	ORPHA:808
HP:0008070	Sparse hair	10293	TRAIP	ORPHA:808
HP:0008070	Sparse hair	22995	CEP152	ORPHA:808
HP:0008070	Sparse hair	10733	PLK4	ORPHA:808
HP:0008070	Sparse hair	404672	GTF2H5	ORPHA:33364
HP:0008070	Sparse hair	833	CARS1	ORPHA:33364
HP:0008070	Sparse hair	2068	ERCC2	ORPHA:33364
HP:0008070	Sparse hair	7737	RNF113A	ORPHA:33364
HP:0008070	Sparse hair	136647	MPLKIP	ORPHA:33364
HP:0008070	Sparse hair	6897	TARS1	ORPHA:33364
HP:0008070	Sparse hair	2071	ERCC3	ORPHA:33364
HP:0008070	Sparse hair	2961	GTF2E2	ORPHA:33364
HP:0008070	Sparse hair	51750	RTEL1	ORPHA:3322
HP:0008070	Sparse hair	65057	ACD	ORPHA:3322
HP:0008070	Sparse hair	5073	PARN	ORPHA:3322
HP:0008070	Sparse hair	7015	TERT	ORPHA:3322
HP:0008070	Sparse hair	26277	TINF2	ORPHA:3322
HP:0008070	Sparse hair	1736	DKC1	ORPHA:3322
HP:0008070	Sparse hair	9742	IFT140	OMIM:266920
HP:0008070	Sparse hair	54101	RIPK4	OMIM:263650
HP:0008070	Sparse hair	5587	PRKD1	OMIM:617364
HP:0008070	Sparse hair	355	FAS	ORPHA:3437
HP:0008070	Sparse hair	26191	PTPN22	ORPHA:3437
HP:0008070	Sparse hair	25871	NEPRO	OMIM:618853
HP:0008070	Sparse hair	2697	GJA1	ORPHA:1010
HP:0008070	Sparse hair	64858	DCLRE1B	OMIM:620133
HP:0008070	Sparse hair	3480	IGF1R	OMIM:270450
HP:0008070	Sparse hair	9508	ADAMTS3	ORPHA:2136
HP:0008070	Sparse hair	147372	CCBE1	ORPHA:2136
HP:0008070	Sparse hair	79633	FAT4	ORPHA:2136
HP:0008070	Sparse hair	6926	TBX3	OMIM:181450
HP:0008070	Sparse hair	5696	PSMB8	OMIM:256040
HP:0008070	Sparse hair	668	FOXL2	OMIM:110100
HP:0008070	Sparse hair	4193	MDM2	OMIM:618681
HP:0008070	Sparse hair	29893	PSMC3IP	ORPHA:243
HP:0008070	Sparse hair	171568	POLR3H	ORPHA:243
HP:0008070	Sparse hair	2516	NR5A1	ORPHA:243
HP:0008070	Sparse hair	2516	NR5A1	ORPHA:251510
HP:0008070	Sparse hair	125150	ZSWIM7	ORPHA:243
HP:0008070	Sparse hair	9210	BMP15	ORPHA:243
HP:0008070	Sparse hair	57122	NUP107	ORPHA:243
HP:0008070	Sparse hair	23514	SPIDR	ORPHA:243
HP:0008070	Sparse hair	2492	FSHR	ORPHA:243
HP:0008070	Sparse hair	56945	MRPS22	ORPHA:243
HP:0008070	Sparse hair	646	BNC1	ORPHA:243
HP:0008070	Sparse hair	3730	ANOS1	OMIM:308700
HP:0008070	Sparse hair	367	AR	OMIM:300068
HP:0008070	Sparse hair	367	AR	ORPHA:99429
HP:0008070	Sparse hair	2488	FSHB	ORPHA:52901
HP:0008070	Sparse hair	3972	LHB	OMIM:228300
HP:0008070	Sparse hair	9723	SEMA3E	OMIM:146110
HP:0008070	Sparse hair	558	AXL	OMIM:146110
HP:0008070	Sparse hair	10011	SRA1	OMIM:146110
HP:0008070	Sparse hair	285025	CCDC141	OMIM:146110
HP:0008070	Sparse hair	389549	FEZF1	OMIM:146110
HP:0008070	Sparse hair	55012	PPP2R3C	OMIM:618419
HP:0008070	Sparse hair	6662	SOX9	ORPHA:251510
HP:0008070	Sparse hair	6845	VAMP7	ORPHA:251510
HP:0008070	Sparse hair	51741	WWOX	ORPHA:251510
HP:0008070	Sparse hair	4214	MAP3K1	ORPHA:251510
HP:0008070	Sparse hair	7490	WT1	ORPHA:251510
HP:0008070	Sparse hair	58524	DMRT3	ORPHA:251510
HP:0008070	Sparse hair	57647	DHX37	ORPHA:251510
HP:0008070	Sparse hair	6736	SRY	ORPHA:251510
HP:0008070	Sparse hair	23414	ZFPM2	ORPHA:251510
HP:0008070	Sparse hair	190	NR0B1	ORPHA:251510
HP:0008070	Sparse hair	2626	GATA4	ORPHA:251510
HP:0008070	Sparse hair	23594	ORC6	OMIM:613803
HP:0008070	Sparse hair	2260	FGFR1	ORPHA:432
HP:0008070	Sparse hair	81848	SPRY4	ORPHA:432
HP:0008070	Sparse hair	128674	PROKR2	ORPHA:432
HP:0008070	Sparse hair	2253	FGF8	ORPHA:432
HP:0008070	Sparse hair	60675	PROK2	ORPHA:432
HP:0008070	Sparse hair	55636	CHD7	ORPHA:432
HP:0008070	Sparse hair	6870	TACR3	ORPHA:432
HP:0008070	Sparse hair	1848	DUSP6	ORPHA:432
HP:0008070	Sparse hair	26012	NSMF	ORPHA:432
HP:0008070	Sparse hair	55717	WDR11	ORPHA:432
HP:0008070	Sparse hair	9394	HS6ST1	ORPHA:432
HP:0008070	Sparse hair	2796	GNRH1	ORPHA:432
HP:0008070	Sparse hair	2798	GNRHR	ORPHA:432
HP:0008070	Sparse hair	84634	KISS1R	ORPHA:432
HP:0008070	Sparse hair	6866	TAC3	ORPHA:432
HP:0008070	Sparse hair	8822	FGF17	ORPHA:432
HP:0008070	Sparse hair	3814	KISS1	ORPHA:432
HP:0008070	Sparse hair	147495	APCDD1	OMIM:605389
HP:0008070	Sparse hair	147495	APCDD1	ORPHA:55654
HP:0008070	Sparse hair	8313	AXIN2	OMIM:608615
HP:0008070	Sparse hair	200879	LIPH	OMIM:604379
HP:0008070	Sparse hair	200879	LIPH	ORPHA:55654
HP:0008070	Sparse hair	200879	LIPH	ORPHA:170
HP:0008070	Sparse hair	80326	WNT10A	OMIM:224750
HP:0008070	Sparse hair	80326	WNT10A	OMIM:150400
HP:0008070	Sparse hair	80326	WNT10A	OMIM:257980
HP:0008070	Sparse hair	54800	KLHL24	OMIM:617294
HP:0008070	Sparse hair	128178	EDARADD	OMIM:614941
HP:0008070	Sparse hair	128178	EDARADD	ORPHA:1810
HP:0008070	Sparse hair	4047	LSS	ORPHA:2850
HP:0008070	Sparse hair	4047	LSS	ORPHA:55654
HP:0008070	Sparse hair	4047	LSS	OMIM:618275
HP:0008070	Sparse hair	197	AHSG	ORPHA:2850
HP:0008070	Sparse hair	3694	ITGB6	ORPHA:2850
HP:0008070	Sparse hair	3891	KRT85	OMIM:602032
HP:0008070	Sparse hair	6144	RPL21	ORPHA:55654
HP:0008070	Sparse hair	147409	DSG4	ORPHA:55654
HP:0008070	Sparse hair	6635	SNRPE	ORPHA:55654
HP:0008070	Sparse hair	10161	LPAR6	ORPHA:55654
HP:0008070	Sparse hair	10161	LPAR6	ORPHA:170
HP:0008070	Sparse hair	26137	ZBTB20	OMIM:259050
HP:0008070	Sparse hair	3728	JUP	OMIM:601214
HP:0008070	Sparse hair	60401	EDA2R	ORPHA:181
HP:0008070	Sparse hair	1896	EDA	ORPHA:181
HP:0008070	Sparse hair	1896	EDA	OMIM:305100
HP:0008070	Sparse hair	25959	KANK2	OMIM:616099
HP:0008070	Sparse hair	1528	CYB5A	ORPHA:90796
HP:0008070	Sparse hair	1586	CYP17A1	ORPHA:90796
HP:0008070	Sparse hair	54345	SOX18	ORPHA:69735
HP:0008070	Sparse hair	1825	DSC3	OMIM:613102
HP:0008070	Sparse hair	9076	CLDN1	ORPHA:59303
HP:0008070	Sparse hair	8626	TP63	OMIM:106260
HP:0008070	Sparse hair	112802	KRT71	ORPHA:170
HP:0008070	Sparse hair	121391	KRT74	ORPHA:170
HP:0008070	Sparse hair	147183	KRT25	ORPHA:170
HP:0008070	Sparse hair	2332	FMR1	ORPHA:261483
HP:0008070	Sparse hair	3909	LAMA3	ORPHA:79402
HP:0008070	Sparse hair	1308	COL17A1	ORPHA:79402
HP:0008070	Sparse hair	3918	LAMC2	ORPHA:79402
HP:0008070	Sparse hair	3691	ITGB4	ORPHA:79402
HP:0008070	Sparse hair	3914	LAMB3	ORPHA:79402
HP:0008070	Sparse hair	6768	ST14	OMIM:602400
HP:0008070	Sparse hair	120766137	HRURF	OMIM:146550
HP:0008070	Sparse hair	1474	CST6	OMIM:618535
HP:0008070	Sparse hair	4000	LMNA	ORPHA:79474
HP:0008070	Sparse hair	7189	TRAF6	ORPHA:1810
HP:0008070	Sparse hair	126695	KDF1	ORPHA:1810
HP:0008070	Sparse hair	10913	EDAR	ORPHA:1810
HP:0008070	Sparse hair	1001	CDH3	ORPHA:1897
HP:0008070	Sparse hair	1075	CTSC	ORPHA:678
HP:0008070	Sparse hair	5818	NECTIN1	OMIM:225060
HP:0008070	Sparse hair	64324	NSD1	ORPHA:821
HP:0008070	Sparse hair	29072	SETD2	ORPHA:821
HP:0008070	Sparse hair	10297	APC2	ORPHA:821
HP:0008070	Sparse hair	6023	RMRP	OMIM:250250
HP:0008070	Sparse hair	10262	SF3B4	ORPHA:245
HP:0008070	Sparse hair	10262	SF3B4	OMIM:154400
HP:0008070	Sparse hair	6949	TCOF1	OMIM:154500
HP:0008070	Sparse hair	4487	MSX1	OMIM:189500
HP:0008070	Sparse hair	83932	SPRTN	OMIM:616200
HP:0008070	Sparse hair	2132	EXT2	OMIM:616682
HP:0008070	Sparse hair	64682	ANAPC1	OMIM:618625
HP:0008070	Sparse hair	64682	ANAPC1	ORPHA:221008
HP:0008070	Sparse hair	6720	SREBF1	OMIM:158310
HP:0008070	Sparse hair	6720	SREBF1	OMIM:619016
HP:0008070	Sparse hair	162	AP1B1	OMIM:242150
HP:0008070	Sparse hair	3021	H3-3B	OMIM:619721
HP:0008070	Sparse hair	80816	ASXL3	OMIM:615485
HP:0008070	Sparse hair	89910	UBE3B	OMIM:244450
HP:0008070	Sparse hair	10908	PNPLA6	OMIM:275400
HP:0008070	Sparse hair	3242	HPD	OMIM:140350
HP:0008070	Sparse hair	3242	HPD	ORPHA:2118
HP:0008070	Sparse hair	1161	ERCC8	OMIM:216400
HP:0008070	Sparse hair	79158	GNPTAB	OMIM:252500
HP:0008070	Sparse hair	112752	IFT43	ORPHA:1515
HP:0008070	Sparse hair	112752	IFT43	OMIM:614099
HP:0008070	Sparse hair	51098	IFT52	ORPHA:1515
HP:0008070	Sparse hair	55764	IFT122	ORPHA:1515
HP:0008070	Sparse hair	55764	IFT122	OMIM:218330
HP:0008070	Sparse hair	57728	WDR19	ORPHA:1515
HP:0008070	Sparse hair	8913	CACNA1G	OMIM:618087
HP:0008070	Sparse hair	816	CAMK2B	OMIM:617799
HP:0008070	Sparse hair	23545	ATP6V0A2	ORPHA:2834
HP:0008070	Sparse hair	23545	ATP6V0A2	OMIM:278250
HP:0008070	Sparse hair	23545	ATP6V0A2	ORPHA:357074
HP:0008070	Sparse hair	284252	KCTD1	ORPHA:2036
HP:0008070	Sparse hair	284252	KCTD1	OMIM:181270
HP:0008070	Sparse hair	6499	SKIC2	OMIM:614602
HP:0008070	Sparse hair	23184	MESD	OMIM:618644
HP:0008070	Sparse hair	340061	STING1	OMIM:615934
HP:0008070	Sparse hair	7020	TFAP2A	OMIM:113620
HP:0008070	Sparse hair	23116	TOGARAM1	OMIM:619185
HP:0008070	Sparse hair	10484	SEC23A	OMIM:607812
HP:0008070	Sparse hair	10484	SEC23A	ORPHA:50814
HP:0008070	Sparse hair	497661	C18orf32	OMIM:619985
HP:0008070	Sparse hair	8550	MAPKAPK5	OMIM:619869
HP:0008070	Sparse hair	23314	SATB2	OMIM:612313
HP:0008070	Sparse hair	23314	SATB2	ORPHA:251028
HP:0008070	Sparse hair	23314	SATB2	ORPHA:251019
HP:0008070	Sparse hair	200734	SPRED2	OMIM:619745
HP:0008070	Sparse hair	55623	THUMPD1	OMIM:619989
HP:0008070	Sparse hair	9487	PIGL	ORPHA:3474
HP:0008070	Sparse hair	9487	PIGL	OMIM:280000
HP:0008070	Sparse hair	3265	HRAS	OMIM:218040
HP:0008070	Sparse hair	4247	MGAT2	OMIM:212066
HP:0008070	Sparse hair	5317	PKP1	OMIM:604536
HP:0008070	Sparse hair	5317	PKP1	ORPHA:158668
HP:0008070	Sparse hair	23126	POGZ	OMIM:616364
HP:0008070	Sparse hair	3845	KRAS	OMIM:615278
HP:0008070	Sparse hair	3845	KRAS	ORPHA:1340
HP:0008070	Sparse hair	150468	CKAP2L	OMIM:272440
HP:0008070	Sparse hair	157570	ESCO2	ORPHA:3103
HP:0008070	Sparse hair	157570	ESCO2	OMIM:268300
HP:0008070	Sparse hair	8085	KMT2D	OMIM:620186
HP:0008070	Sparse hair	4089	SMAD4	OMIM:139210
HP:0008070	Sparse hair	2934	GSN	ORPHA:85448
HP:0008070	Sparse hair	5159	PDGFRB	OMIM:601812
HP:0008070	Sparse hair	8481	OFD1	OMIM:311200
HP:0008070	Sparse hair	8481	OFD1	ORPHA:2750
HP:0008070	Sparse hair	9968	MED12	OMIM:305450
HP:0008070	Sparse hair	5832	ALDH18A1	OMIM:219150
HP:0008070	Sparse hair	84919	PPP1R15B	OMIM:616817
HP:0008070	Sparse hair	84919	PPP1R15B	ORPHA:391408
HP:0008070	Sparse hair	55691	FRMD4A	OMIM:616819
HP:0008070	Sparse hair	10430	TMEM147	OMIM:620075
HP:0008070	Sparse hair	9652	SKIC3	OMIM:222470
HP:0008070	Sparse hair	2146	EZH2	OMIM:277590
HP:0008070	Sparse hair	84295	PHF6	ORPHA:127
HP:0008070	Sparse hair	5631	PRPS1	OMIM:300661
HP:0008070	Sparse hair	80067	DCAF17	OMIM:241080
HP:0008070	Sparse hair	1387	CREBBP	OMIM:618332
HP:0008070	Sparse hair	867	CBL	OMIM:613563
HP:0008070	Sparse hair	1828	DSG1	OMIM:615508
HP:0008070	Sparse hair	7051	TGM1	OMIM:242300
HP:0008070	Sparse hair	7051	TGM1	ORPHA:100976
HP:0008070	Sparse hair	7051	TGM1	ORPHA:313
HP:0008070	Sparse hair	2074	ERCC6	OMIM:133540
HP:0008070	Sparse hair	57459	GATAD2B	OMIM:615074
HP:0008070	Sparse hair	2972	BRF1	ORPHA:444072
HP:0008070	Sparse hair	23030	KDM4B	OMIM:619320
HP:0008070	Sparse hair	3313	HSPA9	OMIM:616854
HP:0008070	Sparse hair	4893	NRAS	OMIM:613224
HP:0008070	Sparse hair	5831	PYCR1	OMIM:614438
HP:0008070	Sparse hair	999	CDH1	OMIM:119580
HP:0008070	Sparse hair	64065	PERP	OMIM:619208
HP:0008070	Sparse hair	64065	PERP	ORPHA:659
HP:0008070	Sparse hair	162514	TRPV3	ORPHA:659
HP:0008070	Sparse hair	162514	TRPV3	OMIM:614594
HP:0008070	Sparse hair	7012	TERC	OMIM:127550
HP:0008070	Sparse hair	7012	TERC	ORPHA:1775
HP:0008070	Sparse hair	3892	KRT86	ORPHA:573
HP:0008070	Sparse hair	3892	KRT86	OMIM:158000
HP:0008070	Sparse hair	3889	KRT83	ORPHA:573
HP:0008070	Sparse hair	3889	KRT83	OMIM:158000
HP:0008070	Sparse hair	3887	KRT81	ORPHA:573
HP:0008070	Sparse hair	3887	KRT81	OMIM:158000
HP:0008070	Sparse hair	16	AARS1	OMIM:619691
HP:0008070	Sparse hair	4784	NFIX	OMIM:602535
HP:0008070	Sparse hair	10940	POP1	OMIM:617396
HP:0008070	Sparse hair	4141	MARS1	OMIM:619692
HP:0008070	Sparse hair	54496	PRMT7	OMIM:617157
HP:0008070	Sparse hair	63035	BCORL1	OMIM:301029
HP:0008070	Sparse hair	5604	MAP2K1	ORPHA:1340
HP:0008070	Sparse hair	8517	IKBKG	OMIM:300291
HP:0008070	Sparse hair	8517	IKBKG	OMIM:308300
HP:0008070	Sparse hair	9056	SLC7A7	OMIM:222700
HP:0008070	Sparse hair	538	ATP7A	ORPHA:565
HP:0008070	Sparse hair	538	ATP7A	OMIM:309400
HP:0008070	Sparse hair	3977	LIFR	OMIM:601559
HP:0008070	Sparse hair	4700	NDUFA6	OMIM:618253
HP:0008070	Sparse hair	79827	CLMP	ORPHA:2301
HP:0008070	Sparse hair	2316	FLNA	ORPHA:2301
HP:0008070	Sparse hair	151516	ASPRV1	ORPHA:313
HP:0008070	Sparse hair	242	ALOX12B	ORPHA:313
HP:0008070	Sparse hair	126410	CYP4F22	ORPHA:313
HP:0008070	Sparse hair	6820	SULT2B1	ORPHA:313
HP:0008070	Sparse hair	26154	ABCA12	ORPHA:313
HP:0008070	Sparse hair	643418	LIPN	ORPHA:313
HP:0008070	Sparse hair	59344	ALOXE3	ORPHA:313
HP:0008070	Sparse hair	348938	NIPAL4	ORPHA:313
HP:0008070	Sparse hair	121214	SDR9C7	ORPHA:313
HP:0008070	Sparse hair	64840	PORCN	OMIM:305600
HP:0008070	Sparse hair	9791	PTDSS1	OMIM:151050
HP:0008070	Sparse hair	134218	DNAJC21	OMIM:617052
HP:0008070	Sparse hair	490	ATP2B1	OMIM:619910
HP:0008070	Sparse hair	4329	ALDH6A1	OMIM:614105
HP:0008070	Sparse hair	6872	TAF1	OMIM:300966
HP:0008070	Sparse hair	10651	MTX2	OMIM:619127
HP:0008070	Sparse hair	9702	CEP57	OMIM:614114
HP:0008070	Sparse hair	93587	TRMT10A	ORPHA:391408
HP:0008070	Sparse hair	3516	RBPJ	ORPHA:974
HP:0008070	Sparse hair	4851	NOTCH1	ORPHA:974
HP:0008070	Sparse hair	57514	ARHGAP31	ORPHA:974
HP:0008070	Sparse hair	57572	DOCK6	ORPHA:974
HP:0008070	Sparse hair	285203	EOGT	ORPHA:974
HP:0008070	Sparse hair	54567	DLL4	ORPHA:974
HP:0008070	Sparse hair	7480	WNT10B	OMIM:617073
HP:0008070	Sparse hair	5295	PIK3R1	ORPHA:3163
HP:0008070	Sparse hair	10084	PQBP1	OMIM:309500
HP:0008070	Sparse hair	523	ATP6V1A	ORPHA:357074
HP:0008070	Sparse hair	529	ATP6V1E1	ORPHA:357074
HP:0008070	Sparse hair	7518	XRCC4	OMIM:616541
HP:0008070	Sparse hair	5297	PI4KA	ORPHA:436252
HP:0008070	Sparse hair	57217	TTC7A	ORPHA:436252
HP:0008070	Sparse hair	5557	PRIM1	OMIM:620005
HP:0008070	Sparse hair	1788	DNMT3A	OMIM:618724
HP:0008070	Sparse hair	9757	KMT2B	OMIM:619934
HP:0008070	Sparse hair	84081	NSRP1	OMIM:620001
HP:0008070	Sparse hair	64131	XYLT1	ORPHA:1425
HP:0008070	Sparse hair	124583	CANT1	ORPHA:1425
HP:0008070	Sparse hair	55790	CSGALNACT1	ORPHA:1425
HP:0008070	Sparse hair	23404	EXOSC2	OMIM:617763
HP:0008070	Sparse hair	672	BRCA1	OMIM:617883
HP:0008070	Sparse hair	80169	CTC1	OMIM:612199
HP:0008070	Sparse hair	80169	CTC1	ORPHA:1775
HP:0008070	Sparse hair	79650	USB1	ORPHA:1775
HP:0008070	Sparse hair	55135	WRAP53	ORPHA:1775
HP:0008070	Sparse hair	4869	NPM1	ORPHA:1775
HP:0008070	Sparse hair	3229	HOXC13	OMIM:614931
HP:0008070	Sparse hair	25886	POC1A	OMIM:614813
HP:0001596	Alopecia	26191	PTPN22	ORPHA:397
HP:0001596	Alopecia	3106	HLA-B	ORPHA:397
HP:0001596	Alopecia	3123	HLA-DRB1	ORPHA:397
HP:0001596	Alopecia	3123	HLA-DRB1	ORPHA:797
HP:0001596	Alopecia	8974	P4HA2	ORPHA:397
HP:0001596	Alopecia	3845	KRAS	ORPHA:2612
HP:0001596	Alopecia	3845	KRAS	ORPHA:2396
HP:0001596	Alopecia	3845	KRAS	OMIM:163200
HP:0001596	Alopecia	4893	NRAS	ORPHA:2612
HP:0001596	Alopecia	4893	NRAS	OMIM:163200
HP:0001596	Alopecia	1736	DKC1	OMIM:305000
HP:0001596	Alopecia	1736	DKC1	ORPHA:1775
HP:0001596	Alopecia	4047	LSS	ORPHA:2850
HP:0001596	Alopecia	4047	LSS	ORPHA:55654
HP:0001596	Alopecia	4047	LSS	OMIM:618840
HP:0001596	Alopecia	3694	ITGB6	ORPHA:2850
HP:0001596	Alopecia	3891	KRT85	OMIM:602032
HP:0001596	Alopecia	51099	ABHD5	OMIM:275630
HP:0001596	Alopecia	51099	ABHD5	ORPHA:98907
HP:0001596	Alopecia	3909	LAMA3	ORPHA:79404
HP:0001596	Alopecia	3918	LAMC2	ORPHA:79404
HP:0001596	Alopecia	6720	SREBF1	OMIM:158310
HP:0001596	Alopecia	162	AP1B1	OMIM:242150
HP:0001596	Alopecia	4790	NFKB1	OMIM:616576
HP:0001596	Alopecia	54345	SOX18	ORPHA:69735
HP:0001596	Alopecia	54345	SOX18	OMIM:607823
HP:0001596	Alopecia	54345	SOX18	OMIM:137940
HP:0001596	Alopecia	3141	HLCS	OMIM:253270
HP:0001596	Alopecia	3141	HLCS	ORPHA:79242
HP:0001596	Alopecia	10908	PNPLA6	OMIM:275400
HP:0001596	Alopecia	5818	NECTIN1	ORPHA:3253
HP:0001596	Alopecia	1584	CYP11B1	ORPHA:90795
HP:0001596	Alopecia	7298	TYMS	OMIM:620040
HP:0001596	Alopecia	7298	TYMS	ORPHA:1775
HP:0001596	Alopecia	90	ACVR1	OMIM:135100
HP:0001596	Alopecia	90	ACVR1	ORPHA:337
HP:0001596	Alopecia	7780	SLC30A2	OMIM:608118
HP:0001596	Alopecia	284058	KANSL1	ORPHA:363958
HP:0001596	Alopecia	284058	KANSL1	ORPHA:363965
HP:0001596	Alopecia	54453	RIN2	OMIM:613075
HP:0001596	Alopecia	26277	TINF2	OMIM:613990
HP:0001596	Alopecia	26277	TINF2	OMIM:127550
HP:0001596	Alopecia	26277	TINF2	ORPHA:1775
HP:0001596	Alopecia	50814	NSDHL	OMIM:308050
HP:0001596	Alopecia	686	BTD	OMIM:253260
HP:0001596	Alopecia	686	BTD	ORPHA:79241
HP:0001596	Alopecia	2260	FGFR1	ORPHA:2396
HP:0001596	Alopecia	2260	FGFR1	OMIM:613001
HP:0001596	Alopecia	3117	HLA-DQA1	OMIM:212750
HP:0001596	Alopecia	3119	HLA-DQB1	OMIM:212750
HP:0001596	Alopecia	64359	NXN	ORPHA:1507
HP:0001596	Alopecia	4920	ROR2	ORPHA:1507
HP:0001596	Alopecia	7840	ALMS1	OMIM:203800
HP:0001596	Alopecia	64087	MCCC2	OMIM:210210
HP:0001596	Alopecia	5191	PEX7	OMIM:215100
HP:0001596	Alopecia	1281	COL3A1	ORPHA:286
HP:0001596	Alopecia	215	ABCD1	OMIM:300100
HP:0001596	Alopecia	2313	FLI1	OMIM:617443
HP:0001596	Alopecia	5073	PARN	OMIM:616353
HP:0001596	Alopecia	5073	PARN	ORPHA:1775
HP:0001596	Alopecia	374393	FAM111B	OMIM:615704
HP:0001596	Alopecia	165	AEBP1	ORPHA:536532
HP:0001596	Alopecia	55131	RBM28	ORPHA:157954
HP:0001596	Alopecia	55131	RBM28	OMIM:612079
HP:0001596	Alopecia	5339	PLEC	OMIM:616487
HP:0001596	Alopecia	5339	PLEC	ORPHA:257
HP:0001596	Alopecia	23312	DMXL2	ORPHA:453533
HP:0001596	Alopecia	8456	FOXN1	OMIM:601705
HP:0001596	Alopecia	5566	PRKACA	OMIM:615830
HP:0001596	Alopecia	5566	PRKACA	ORPHA:189439
HP:0001596	Alopecia	1857	DVL3	ORPHA:3107
HP:0001596	Alopecia	7474	WNT5A	ORPHA:3107
HP:0001596	Alopecia	1855	DVL1	ORPHA:3107
HP:0001596	Alopecia	2535	FZD2	ORPHA:3107
HP:0001596	Alopecia	1909	EDNRA	OMIM:616367
HP:0001596	Alopecia	8622	PDE8B	ORPHA:189439
HP:0001596	Alopecia	5573	PRKAR1A	ORPHA:189439
HP:0001596	Alopecia	50940	PDE11A	ORPHA:189439
HP:0001596	Alopecia	80067	DCAF17	ORPHA:3464
HP:0001596	Alopecia	80067	DCAF17	OMIM:241080
HP:0001596	Alopecia	11128	POLR3A	OMIM:264090
HP:0001596	Alopecia	51284	TLR7	OMIM:301080
HP:0001596	Alopecia	8517	IKBKG	ORPHA:464
HP:0001596	Alopecia	8517	IKBKG	OMIM:308300
HP:0001596	Alopecia	64421	DCLRE1C	OMIM:603554
HP:0001596	Alopecia	64421	DCLRE1C	ORPHA:39041
HP:0001596	Alopecia	5896	RAG1	OMIM:603554
HP:0001596	Alopecia	5896	RAG1	ORPHA:39041
HP:0001596	Alopecia	5897	RAG2	OMIM:603554
HP:0001596	Alopecia	5897	RAG2	ORPHA:39041
HP:0001596	Alopecia	3575	IL7R	ORPHA:169154
HP:0001596	Alopecia	3575	IL7R	ORPHA:39041
HP:0001596	Alopecia	8314	BAP1	OMIM:619762
HP:0001596	Alopecia	4256	MGP	ORPHA:85202
HP:0001596	Alopecia	79798	ARMC5	ORPHA:189427
HP:0001596	Alopecia	2778	GNAS	ORPHA:189427
HP:0001596	Alopecia	8481	OFD1	OMIM:311200
HP:0001596	Alopecia	8481	OFD1	ORPHA:2750
HP:0001596	Alopecia	2512	FTL	OMIM:615604
HP:0001596	Alopecia	7841	MOGS	ORPHA:79330
HP:0001596	Alopecia	695	BTK	ORPHA:47
HP:0001596	Alopecia	2706	GJB2	ORPHA:494
HP:0001596	Alopecia	84168	ANTXR1	OMIM:230740
HP:0001596	Alopecia	84168	ANTXR1	ORPHA:2067
HP:0001596	Alopecia	50943	FOXP3	ORPHA:37042
HP:0001596	Alopecia	50943	FOXP3	OMIM:304790
HP:0001596	Alopecia	128178	EDARADD	ORPHA:248
HP:0001596	Alopecia	80326	WNT10A	ORPHA:248
HP:0001596	Alopecia	80326	WNT10A	ORPHA:50944
HP:0001596	Alopecia	10913	EDAR	ORPHA:248
HP:0001596	Alopecia	1476	CSTB	ORPHA:248
HP:0001596	Alopecia	617	BCS1L	ORPHA:123
HP:0001596	Alopecia	617	BCS1L	OMIM:262000
HP:0001596	Alopecia	5654	HTRA1	OMIM:600142
HP:0001596	Alopecia	120766137	HRURF	OMIM:146550
HP:0001596	Alopecia	1493	CTLA4	ORPHA:2584
HP:0001596	Alopecia	1493	CTLA4	ORPHA:3162
HP:0001596	Alopecia	940	CD28	ORPHA:2584
HP:0001596	Alopecia	940	CD28	ORPHA:3162
HP:0001596	Alopecia	7133	TNFRSF1B	ORPHA:2584
HP:0001596	Alopecia	7133	TNFRSF1B	ORPHA:3162
HP:0001596	Alopecia	2068	ERCC2	ORPHA:910
HP:0001596	Alopecia	7507	XPA	ORPHA:910
HP:0001596	Alopecia	2071	ERCC3	ORPHA:910
HP:0001596	Alopecia	7508	XPC	ORPHA:910
HP:0001596	Alopecia	1643	DDB2	ORPHA:910
HP:0001596	Alopecia	2072	ERCC4	ORPHA:910
HP:0001596	Alopecia	2073	ERCC5	ORPHA:910
HP:0001596	Alopecia	7051	TGM1	OMIM:242300
HP:0001596	Alopecia	7051	TGM1	ORPHA:100976
HP:0001596	Alopecia	7051	TGM1	ORPHA:79394
HP:0001596	Alopecia	2767	GNA11	ORPHA:428
HP:0001596	Alopecia	846	CASR	ORPHA:428
HP:0001596	Alopecia	6775	STAT4	ORPHA:93552
HP:0001596	Alopecia	6696	SPP1	ORPHA:93552
HP:0001596	Alopecia	3654	IRAK1	ORPHA:93552
HP:0001596	Alopecia	55630	SLC39A4	ORPHA:37
HP:0001596	Alopecia	1294	COL7A1	OMIM:226600
HP:0001596	Alopecia	4312	MMP1	OMIM:226600
HP:0001596	Alopecia	8882	ZPR1	OMIM:619321
HP:0001596	Alopecia	4953	ODC1	ORPHA:544488
HP:0001596	Alopecia	7012	TERC	OMIM:127550
HP:0001596	Alopecia	7012	TERC	ORPHA:1775
HP:0001596	Alopecia	7015	TERT	OMIM:127550
HP:0001596	Alopecia	7015	TERT	ORPHA:1775
HP:0001596	Alopecia	114798	SLITRK1	OMIM:613229
HP:0001596	Alopecia	10651	MTX2	ORPHA:90153
HP:0001596	Alopecia	2316	FLNA	ORPHA:88630
HP:0001596	Alopecia	545	ATR	OMIM:614564
HP:0001596	Alopecia	22845	DOLK	OMIM:610768
HP:0001596	Alopecia	197131	UBR1	ORPHA:2315
HP:0001596	Alopecia	79574	EPS8L3	ORPHA:444
HP:0001596	Alopecia	79574	EPS8L3	OMIM:612841
HP:0001596	Alopecia	7286	TUFT1	OMIM:607655
HP:0001596	Alopecia	23328	SASH1	OMIM:618373
HP:0001596	Alopecia	2697	GJA1	ORPHA:317
HP:0001596	Alopecia	2697	GJA1	OMIM:104100
HP:0001596	Alopecia	2707	GJB3	ORPHA:317
HP:0001596	Alopecia	2531	KDSR	ORPHA:317
HP:0001596	Alopecia	127534	GJB4	ORPHA:317
HP:0001596	Alopecia	57572	DOCK6	OMIM:614219
HP:0001596	Alopecia	57572	DOCK6	ORPHA:974
HP:0001596	Alopecia	3868	KRT16	ORPHA:2309
HP:0001596	Alopecia	3872	KRT17	ORPHA:2309
HP:0001596	Alopecia	3853	KRT6A	ORPHA:2309
HP:0001596	Alopecia	3854	KRT6B	ORPHA:2309
HP:0001596	Alopecia	56244	BTNL2	ORPHA:797
HP:0001596	Alopecia	3077	HFE	OMIM:235200
HP:0001596	Alopecia	3077	HFE	OMIM:176100
HP:0001596	Alopecia	650	BMP2	OMIM:235200
HP:0001596	Alopecia	9563	H6PD	OMIM:604931
HP:0001596	Alopecia	242	ALOX12B	OMIM:242100
HP:0001596	Alopecia	242	ALOX12B	ORPHA:79394
HP:0001596	Alopecia	59344	ALOXE3	OMIM:242100
HP:0001596	Alopecia	59344	ALOXE3	ORPHA:79394
HP:0001596	Alopecia	54800	KLHL24	OMIM:617294
HP:0001596	Alopecia	10526	IPO8	OMIM:619472
HP:0001596	Alopecia	57514	ARHGAP31	OMIM:100300
HP:0001596	Alopecia	57514	ARHGAP31	ORPHA:974
HP:0001596	Alopecia	5580	PRKCD	OMIM:615559
HP:0001596	Alopecia	538	ATP7A	OMIM:309400
HP:0001596	Alopecia	3122	HLA-DRA	ORPHA:505
HP:0001596	Alopecia	6023	RMRP	ORPHA:39041
HP:0001596	Alopecia	55636	CHD7	ORPHA:39041
HP:0001596	Alopecia	3981	LIG4	ORPHA:39041
HP:0001596	Alopecia	100	ADA	ORPHA:39041
HP:0001596	Alopecia	3561	IL2RG	ORPHA:39041
HP:0001596	Alopecia	10283	CWC27	ORPHA:166035
HP:0001596	Alopecia	147495	APCDD1	ORPHA:55654
HP:0001596	Alopecia	6144	RPL21	ORPHA:55654
HP:0001596	Alopecia	200879	LIPH	ORPHA:55654
HP:0001596	Alopecia	10161	LPAR6	ORPHA:55654
HP:0001596	Alopecia	6595	SMARCA2	ORPHA:3051
HP:0001596	Alopecia	3516	RBPJ	ORPHA:974
HP:0001596	Alopecia	4851	NOTCH1	ORPHA:974
HP:0001596	Alopecia	285203	EOGT	ORPHA:974
HP:0001596	Alopecia	54567	DLL4	ORPHA:974
HP:0001596	Alopecia	9076	CLDN1	OMIM:607626
HP:0001596	Alopecia	84905	ZNF341	OMIM:618282
HP:0001596	Alopecia	5295	PIK3R1	ORPHA:3163
HP:0001596	Alopecia	7390	UROS	OMIM:263700
HP:0001596	Alopecia	10273	STUB1	ORPHA:412057
HP:0001596	Alopecia	100151683	RNU4ATAC	ORPHA:2636
HP:0001596	Alopecia	8815	BANF1	OMIM:614008
HP:0001596	Alopecia	121391	KRT74	OMIM:614929
HP:0001596	Alopecia	341208	HEPHL1	OMIM:261990
HP:0001596	Alopecia	80169	CTC1	ORPHA:1775
HP:0001596	Alopecia	55651	NHP2	ORPHA:1775
HP:0001596	Alopecia	79650	USB1	ORPHA:1775
HP:0001596	Alopecia	55135	WRAP53	ORPHA:1775
HP:0001596	Alopecia	51750	RTEL1	ORPHA:1775
HP:0001596	Alopecia	4869	NPM1	ORPHA:1775
HP:0001596	Alopecia	55505	NOP10	ORPHA:1775
HP:0001596	Alopecia	55315	SLC29A3	ORPHA:168569
HP:0001596	Alopecia	204219	CERS3	ORPHA:79394
HP:0001596	Alopecia	26154	ABCA12	ORPHA:79394
HP:0001596	Alopecia	285848	PNPLA1	ORPHA:79394
HP:0001596	Alopecia	348938	NIPAL4	ORPHA:79394
HP:0001596	Alopecia	7389	UROD	OMIM:176100
HP:0001596	Alopecia	4014	LORICRIN	ORPHA:79395
HP:0001596	Alopecia	3852	KRT5	ORPHA:79396
HP:0001596	Alopecia	3852	KRT5	ORPHA:79397
HP:0001596	Alopecia	3861	KRT14	ORPHA:79396
HP:0001596	Alopecia	3861	KRT14	ORPHA:79397
HP:0001596	Alopecia	8626	TP63	OMIM:106260
HP:0001596	Alopecia	147409	DSG4	ORPHA:573
HP:0001596	Alopecia	3892	KRT86	ORPHA:573
HP:0001596	Alopecia	3889	KRT83	ORPHA:573
HP:0001596	Alopecia	3887	KRT81	ORPHA:573
HP:0001596	Alopecia	64840	PORCN	OMIM:305600
HP:0001596	Alopecia	8242	KDM5C	OMIM:300534
HP:0001596	Alopecia	8242	KDM5C	ORPHA:85279
HP:0001596	Alopecia	3914	LAMB3	OMIM:226650
HP:0001596	Alopecia	81607	NECTIN4	OMIM:613573
HP:0001596	Alopecia	3265	HRAS	ORPHA:2874
HP:0001596	Alopecia	10682	EBP	OMIM:302960
HP:0001596	Alopecia	10682	EBP	ORPHA:35173
HP:0001596	Alopecia	641	BLM	ORPHA:125
HP:0001596	Alopecia	284252	KCTD1	OMIM:181270
HP:0001596	Alopecia	1893	ECM1	OMIM:247100
HP:0001596	Alopecia	23404	EXOSC2	OMIM:617763
HP:0001596	Alopecia	28755	TRAC	OMIM:615387
HP:0001596	Alopecia	51702	PADI3	ORPHA:1410
HP:0001596	Alopecia	7053	TGM3	ORPHA:1410
HP:0001596	Alopecia	1832	DSP	OMIM:609638
HP:0001596	Alopecia	5317	PKP1	ORPHA:158668
HP:0001596	Alopecia	326	AIRE	OMIM:240300
HP:0001596	Alopecia	162514	TRPV3	OMIM:614594
HP:0001596	Alopecia	7421	VDR	OMIM:277440
HP:0001596	Alopecia	6635	SNRPE	OMIM:615059
HP:0001596	Alopecia	4000	LMNA	ORPHA:363618
HP:0001596	Alopecia	197	AHSG	OMIM:203650
HP:0001596	Alopecia	64065	PERP	OMIM:619208
HP:0001596	Alopecia	55806	HR	OMIM:203655
HP:0001596	Alopecia	55806	HR	ORPHA:701
HP:0001596	Alopecia	3559	IL2RA	OMIM:606367
HP:0001596	Alopecia	1041	CDSN	ORPHA:90368
HP:0001596	Alopecia	5297	PI4KA	ORPHA:436252
HP:0001596	Alopecia	57217	TTC7A	ORPHA:436252
HP:0001596	Alopecia	404672	GTF2H5	ORPHA:33364
HP:0001596	Alopecia	833	CARS1	ORPHA:33364
HP:0001596	Alopecia	7737	RNF113A	ORPHA:33364
HP:0001596	Alopecia	136647	MPLKIP	ORPHA:33364
HP:0001596	Alopecia	6897	TARS1	ORPHA:33364
HP:0001596	Alopecia	2961	GTF2E2	ORPHA:33364
HP:0001596	Alopecia	80781	COL18A1	OMIM:267750
HP:0001596	Alopecia	10999	SLC27A4	OMIM:608649
HP:0001596	Alopecia	5605	MAP2K2	OMIM:615280
HP:0001596	Alopecia	7486	WRN	OMIM:277700
HP:0001596	Alopecia	1308	COL17A1	OMIM:619787
HP:0001596	Alopecia	1308	COL17A1	ORPHA:251393
HP:0001596	Alopecia	1308	COL17A1	ORPHA:79402
HP:0001596	Alopecia	3691	ITGB4	ORPHA:158684
HP:0001596	Alopecia	3691	ITGB4	ORPHA:251393
HP:0001596	Alopecia	3691	ITGB4	ORPHA:79402
HP:0001596	Alopecia	126695	KDF1	OMIM:617337
HP:0001596	Alopecia	387	RHOA	OMIM:618727
HP:0001596	Alopecia	2623	GATA1	ORPHA:79277
HP:0001596	Alopecia	3728	JUP	ORPHA:158687
HP:0001596	Alopecia	10269	ZMPSTE24	ORPHA:740
HP:0001596	Alopecia	4791	NFKB2	ORPHA:293978
HP:0001596	Alopecia	4791	NFKB2	OMIM:615577
HP:0001596	Alopecia	7386	UQCRFS1	OMIM:618775
HP:0001596	Alopecia	54101	RIPK4	OMIM:263650
HP:0001596	Alopecia	54101	RIPK4	ORPHA:1234
HP:0001596	Alopecia	60529	ALX4	OMIM:613451
HP:0001596	Alopecia	51360	MBTPS2	OMIM:300918
HP:0001596	Alopecia	9401	RECQL4	ORPHA:221016
HP:0001596	Alopecia	10804	GJB6	OMIM:129500
HP:0001596	Alopecia	64682	ANAPC1	ORPHA:221008
HP:0002239	Gastrointestinal hemorrhage	171023	ASXL1	ORPHA:98850
HP:0002239	Gastrointestinal hemorrhage	54790	TET2	ORPHA:98850
HP:0002239	Gastrointestinal hemorrhage	54790	TET2	ORPHA:729
HP:0002239	Gastrointestinal hemorrhage	867	CBL	ORPHA:98850
HP:0002239	Gastrointestinal hemorrhage	861	RUNX1	ORPHA:98850
HP:0002239	Gastrointestinal hemorrhage	6427	SRSF2	ORPHA:98850
HP:0002239	Gastrointestinal hemorrhage	875	CBS	ORPHA:394
HP:0002239	Gastrointestinal hemorrhage	2815	GP9	ORPHA:274
HP:0002239	Gastrointestinal hemorrhage	2815	GP9	OMIM:231200
HP:0002239	Gastrointestinal hemorrhage	229	ALDOB	OMIM:229600
HP:0002239	Gastrointestinal hemorrhage	5351	PLOD1	OMIM:225400
HP:0002239	Gastrointestinal hemorrhage	7148	TNXB	ORPHA:230839
HP:0002239	Gastrointestinal hemorrhage	80270	HSD3B7	ORPHA:79301
HP:0002239	Gastrointestinal hemorrhage	4072	EPCAM	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	4292	MLH1	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	5395	PMS2	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	27030	MLH3	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	22909	FAN1	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	7048	TGFBR2	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	3845	KRAS	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	5290	PIK3CA	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	2956	MSH6	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	5378	PMS1	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	4436	MSH2	ORPHA:144
HP:0002239	Gastrointestinal hemorrhage	2158	F9	OMIM:306900
HP:0002239	Gastrointestinal hemorrhage	4609	MYC	ORPHA:543
HP:0002239	Gastrointestinal hemorrhage	64218	SEMA4A	ORPHA:440437
HP:0002239	Gastrointestinal hemorrhage	6224	RPS20	ORPHA:440437
HP:0002239	Gastrointestinal hemorrhage	843	CASP10	OMIM:603909
HP:0002239	Gastrointestinal hemorrhage	7248	TSC1	ORPHA:538
HP:0002239	Gastrointestinal hemorrhage	7249	TSC2	ORPHA:538
HP:0002239	Gastrointestinal hemorrhage	3106	HLA-B	ORPHA:36426
HP:0002239	Gastrointestinal hemorrhage	3106	HLA-B	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	10320	IKZF1	ORPHA:36426
HP:0002239	Gastrointestinal hemorrhage	3930	LBR	OMIM:613471
HP:0002239	Gastrointestinal hemorrhage	4352	MPL	ORPHA:729
HP:0002239	Gastrointestinal hemorrhage	3717	JAK2	ORPHA:729
HP:0002239	Gastrointestinal hemorrhage	3717	JAK2	ORPHA:131
HP:0002239	Gastrointestinal hemorrhage	3717	JAK2	OMIM:263300
HP:0002239	Gastrointestinal hemorrhage	7132	TNFRSF1A	OMIM:142680
HP:0002239	Gastrointestinal hemorrhage	55109	AGGF1	ORPHA:90308
HP:0002239	Gastrointestinal hemorrhage	2160	F11	ORPHA:329
HP:0002239	Gastrointestinal hemorrhage	2159	F10	ORPHA:328
HP:0002239	Gastrointestinal hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0002239	Gastrointestinal hemorrhage	1312	COMT	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	221037	JMJD1C	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	6239	RREB1	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	6899	TBX1	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	7290	HIRA	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	9632	SEC24C	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	7353	UFD1	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	421	ARVCF	ORPHA:567
HP:0002239	Gastrointestinal hemorrhage	3248	HPGD	ORPHA:2796
HP:0002239	Gastrointestinal hemorrhage	6578	SLCO2A1	ORPHA:2796
HP:0002239	Gastrointestinal hemorrhage	2155	F7	ORPHA:327
HP:0002239	Gastrointestinal hemorrhage	22827	PUF60	ORPHA:508488
HP:0002239	Gastrointestinal hemorrhage	538	ATP7A	ORPHA:565
HP:0002239	Gastrointestinal hemorrhage	1499	CTNNB1	ORPHA:873
HP:0002239	Gastrointestinal hemorrhage	6390	SDHB	ORPHA:97286
HP:0002239	Gastrointestinal hemorrhage	6390	SDHB	ORPHA:44890
HP:0002239	Gastrointestinal hemorrhage	6391	SDHC	ORPHA:97286
HP:0002239	Gastrointestinal hemorrhage	6391	SDHC	ORPHA:44890
HP:0002239	Gastrointestinal hemorrhage	6392	SDHD	ORPHA:97286
HP:0002239	Gastrointestinal hemorrhage	7450	VWF	OMIM:193400
HP:0002239	Gastrointestinal hemorrhage	11277	TREX1	OMIM:192315
HP:0002239	Gastrointestinal hemorrhage	11277	TREX1	ORPHA:247691
HP:0002239	Gastrointestinal hemorrhage	1493	CTLA4	ORPHA:900
HP:0002239	Gastrointestinal hemorrhage	26191	PTPN22	ORPHA:900
HP:0002239	Gastrointestinal hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0002239	Gastrointestinal hemorrhage	5657	PRTN3	ORPHA:900
HP:0002239	Gastrointestinal hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0002239	Gastrointestinal hemorrhage	493856	CISD2	ORPHA:3463
HP:0002239	Gastrointestinal hemorrhage	7466	WFS1	ORPHA:3463
HP:0002239	Gastrointestinal hemorrhage	4598	MVK	ORPHA:343
HP:0002239	Gastrointestinal hemorrhage	2243	FGA	ORPHA:98881
HP:0002239	Gastrointestinal hemorrhage	2243	FGA	ORPHA:101041
HP:0002239	Gastrointestinal hemorrhage	2244	FGB	ORPHA:98881
HP:0002239	Gastrointestinal hemorrhage	2244	FGB	ORPHA:101041
HP:0002239	Gastrointestinal hemorrhage	2266	FGG	ORPHA:98881
HP:0002239	Gastrointestinal hemorrhage	2266	FGG	ORPHA:101041
HP:0002239	Gastrointestinal hemorrhage	5054	SERPINE1	ORPHA:465
HP:0002239	Gastrointestinal hemorrhage	79991	STN1	OMIM:617341
HP:0002239	Gastrointestinal hemorrhage	368	ABCC6	OMIM:177850
HP:0002239	Gastrointestinal hemorrhage	368	ABCC6	OMIM:264800
HP:0002239	Gastrointestinal hemorrhage	368	ABCC6	ORPHA:758
HP:0002239	Gastrointestinal hemorrhage	64131	XYLT1	OMIM:264800
HP:0002239	Gastrointestinal hemorrhage	64132	XYLT2	OMIM:264800
HP:0002239	Gastrointestinal hemorrhage	3998	LMAN1	ORPHA:35909
HP:0002239	Gastrointestinal hemorrhage	90411	MCFD2	ORPHA:35909
HP:0002239	Gastrointestinal hemorrhage	11231	SEC63	ORPHA:2924
HP:0002239	Gastrointestinal hemorrhage	5589	PRKCSH	ORPHA:2924
HP:0002239	Gastrointestinal hemorrhage	4041	LRP5	ORPHA:2924
HP:0002239	Gastrointestinal hemorrhage	10165	SLC25A13	ORPHA:247598
HP:0002239	Gastrointestinal hemorrhage	3662	IRF4	ORPHA:3452
HP:0002239	Gastrointestinal hemorrhage	3516	RBPJ	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	4851	NOTCH1	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	57514	ARHGAP31	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	57572	DOCK6	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	285203	EOGT	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	54567	DLL4	ORPHA:974
HP:0002239	Gastrointestinal hemorrhage	199221	DZIP1L	ORPHA:731
HP:0002239	Gastrointestinal hemorrhage	5314	PKHD1	ORPHA:731
HP:0002239	Gastrointestinal hemorrhage	2658	GDF2	ORPHA:774
HP:0002239	Gastrointestinal hemorrhage	4351	MPI	ORPHA:79319
HP:0002239	Gastrointestinal hemorrhage	811	CALR	ORPHA:131
HP:0002239	Gastrointestinal hemorrhage	6389	SDHA	ORPHA:44890
HP:0002239	Gastrointestinal hemorrhage	5156	PDGFRA	ORPHA:44890
HP:0002239	Gastrointestinal hemorrhage	3815	KIT	ORPHA:44890
HP:0002239	Gastrointestinal hemorrhage	2157	F8	ORPHA:169805
HP:0002239	Gastrointestinal hemorrhage	2157	F8	ORPHA:169802
HP:0002239	Gastrointestinal hemorrhage	2147	F2	OMIM:613679
HP:0002239	Gastrointestinal hemorrhage	79651	RHBDF2	ORPHA:2198
HP:0002239	Gastrointestinal hemorrhage	4615	MYD88	ORPHA:33226
HP:0002239	Gastrointestinal hemorrhage	5167	ENPP1	ORPHA:758
HP:0002239	Gastrointestinal hemorrhage	8328	GFI1B	OMIM:187900
HP:0002239	Gastrointestinal hemorrhage	149233	IL23R	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	6775	STAT4	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	3586	IL10	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	4210	MEFV	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	1230	CCR1	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	355	FAS	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	3592	IL12A	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	101928376	IL12A-AS1	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	7099	TLR4	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	3459	IFNGR1	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	720	C4A	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	337867	UBAC2	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	51752	ERAP1	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	8302	KLRC4	ORPHA:117
HP:0002239	Gastrointestinal hemorrhage	9968	MED12	OMIM:301068
HP:0002239	Gastrointestinal hemorrhage	6720	SREBF1	OMIM:158310
HP:0002239	Gastrointestinal hemorrhage	9493	KIF23	ORPHA:98870
HP:0002239	Gastrointestinal hemorrhage	29127	RACGAP1	ORPHA:98870
HP:0002239	Gastrointestinal hemorrhage	4221	MEN1	ORPHA:652
HP:0002239	Gastrointestinal hemorrhage	1027	CDKN1B	ORPHA:652
HP:0002239	Gastrointestinal hemorrhage	1026	CDKN1A	ORPHA:652
HP:0002239	Gastrointestinal hemorrhage	1030	CDKN2B	ORPHA:652
HP:0002239	Gastrointestinal hemorrhage	1031	CDKN2C	ORPHA:652
HP:0002239	Gastrointestinal hemorrhage	1616	DAXX	ORPHA:100075
HP:0002239	Gastrointestinal hemorrhage	546	ATRX	ORPHA:100075
HP:0002239	Gastrointestinal hemorrhage	2184	FAH	OMIM:276700
HP:0002239	Gastrointestinal hemorrhage	2811	GP1BA	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	2812	GP1BB	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	3674	ITGA2B	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	3673	ITGA2	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	135228	CD109	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	3690	ITGB3	ORPHA:853
HP:0002239	Gastrointestinal hemorrhage	94	ACVRL1	OMIM:600376
HP:0002239	Gastrointestinal hemorrhage	83483	PLVAP	OMIM:618183
HP:0002239	Gastrointestinal hemorrhage	2022	ENG	OMIM:187300
HP:0002239	Gastrointestinal hemorrhage	2022	ENG	ORPHA:329971
HP:0002239	Gastrointestinal hemorrhage	57551	TAOK1	OMIM:619575
HP:0002239	Gastrointestinal hemorrhage	57217	TTC7A	OMIM:243150
HP:0002239	Gastrointestinal hemorrhage	4089	SMAD4	OMIM:174900
HP:0002239	Gastrointestinal hemorrhage	4089	SMAD4	ORPHA:329971
HP:0002239	Gastrointestinal hemorrhage	4089	SMAD4	OMIM:175050
HP:0002239	Gastrointestinal hemorrhage	657	BMPR1A	OMIM:174900
HP:0002239	Gastrointestinal hemorrhage	657	BMPR1A	ORPHA:157794
HP:0002239	Gastrointestinal hemorrhage	657	BMPR1A	ORPHA:329971
HP:0002239	Gastrointestinal hemorrhage	657	BMPR1A	ORPHA:79076
HP:0002239	Gastrointestinal hemorrhage	26585	GREM1	ORPHA:157794
HP:0002239	Gastrointestinal hemorrhage	10616	RBCK1	OMIM:615895
HP:0002239	Gastrointestinal hemorrhage	3257	HPS1	OMIM:203300
HP:0002239	Gastrointestinal hemorrhage	324	APC	ORPHA:99818
HP:0002239	Gastrointestinal hemorrhage	7454	WAS	ORPHA:906
HP:0002239	Gastrointestinal hemorrhage	7456	WIPF1	ORPHA:906
HP:0002239	Gastrointestinal hemorrhage	9420	CYP7B1	OMIM:613812
HP:0002239	Gastrointestinal hemorrhage	23600	AMACR	OMIM:214950
HP:0002239	Gastrointestinal hemorrhage	23600	AMACR	ORPHA:79095
HP:0002239	Gastrointestinal hemorrhage	10095	ARPC1B	OMIM:617718
HP:0002239	Gastrointestinal hemorrhage	2153	F5	ORPHA:326
HP:0002239	Gastrointestinal hemorrhage	64135	IFIH1	OMIM:615846
HP:0002239	Gastrointestinal hemorrhage	3587	IL10RA	OMIM:613148
HP:0002239	Gastrointestinal hemorrhage	5728	PTEN	ORPHA:79076
HP:0002239	Gastrointestinal hemorrhage	80169	CTC1	OMIM:612199
HP:0002239	Gastrointestinal hemorrhage	7010	TEK	ORPHA:1059
HP:0002239	Gastrointestinal hemorrhage	7010	TEK	OMIM:600195
HP:0002239	Gastrointestinal hemorrhage	6794	STK11	OMIM:175200
HP:0012452	Restless legs	51142	CHCHD2	OMIM:616710
HP:0012452	Restless legs	2512	FTL	OMIM:615604
HP:0012452	Restless legs	54832	VPS13C	ORPHA:2828
HP:0012452	Restless legs	11315	PARK7	ORPHA:2828
HP:0012452	Restless legs	7345	UCHL1	ORPHA:2828
HP:0012452	Restless legs	27429	HTRA2	ORPHA:2828
HP:0012452	Restless legs	120892	LRRK2	ORPHA:2828
HP:0012452	Restless legs	9829	DNAJC6	ORPHA:2828
HP:0012452	Restless legs	6622	SNCA	ORPHA:2828
HP:0012452	Restless legs	5420	PODXL	ORPHA:2828
HP:0012452	Restless legs	65018	PINK1	ORPHA:2828
HP:0012452	Restless legs	8867	SYNJ1	ORPHA:2828
HP:0012452	Restless legs	5071	PRKN	ORPHA:2828
HP:0012452	Restless legs	4747	NEFL	ORPHA:101085
HP:0012452	Restless legs	9927	MFN2	ORPHA:99947
HP:0012452	Restless legs	6314	ATXN7	ORPHA:94147
HP:0012453	Bilateral wrist flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0012453	Bilateral wrist flexion contracture	171023	ASXL1	ORPHA:97297
HP:0012454	Unilateral wrist flexion contracture	5297	PI4KA	OMIM:616531
HP:0003207	Arterial calcification	3081	HGD	ORPHA:56
HP:0003207	Arterial calcification	3081	HGD	OMIM:203500
HP:0003207	Arterial calcification	6575	SLC20A2	OMIM:213600
HP:0003207	Arterial calcification	5155	PDGFB	OMIM:213600
HP:0003207	Arterial calcification	5159	PDGFRB	OMIM:213600
HP:0003207	Arterial calcification	4851	NOTCH1	ORPHA:402075
HP:0003207	Arterial calcification	1482	NKX2-5	ORPHA:402075
HP:0003207	Arterial calcification	140628	GATA5	ORPHA:402075
HP:0003207	Arterial calcification	3949	LDLR	ORPHA:391665
HP:0003207	Arterial calcification	255738	PCSK9	ORPHA:391665
HP:0003207	Arterial calcification	26119	LDLRAP1	ORPHA:391665
HP:0003207	Arterial calcification	338	APOB	ORPHA:391665
HP:0003207	Arterial calcification	64240	ABCG5	ORPHA:391665
HP:0003207	Arterial calcification	64241	ABCG8	ORPHA:391665
HP:0003207	Arterial calcification	2629	GBA1	OMIM:231005
HP:0003207	Arterial calcification	2629	GBA1	ORPHA:2072
HP:0003207	Arterial calcification	4091	SMAD6	OMIM:614823
HP:0003207	Arterial calcification	10568	SLC34A2	ORPHA:60025
HP:0003207	Arterial calcification	10535	RNASEH2A	ORPHA:51
HP:0003207	Arterial calcification	84153	RNASEH2C	ORPHA:51
HP:0003207	Arterial calcification	25939	SAMHD1	ORPHA:51
HP:0003207	Arterial calcification	79621	RNASEH2B	ORPHA:51
HP:0003207	Arterial calcification	103	ADAR	ORPHA:51
HP:0003207	Arterial calcification	11277	TREX1	ORPHA:51
HP:0003207	Arterial calcification	100147744	RNU7-1	ORPHA:51
HP:0003207	Arterial calcification	134353	LSM11	ORPHA:51
HP:0003207	Arterial calcification	64135	IFIH1	ORPHA:51
HP:0003207	Arterial calcification	5167	ENPP1	ORPHA:51608
HP:0003207	Arterial calcification	368	ABCC6	ORPHA:51608
HP:0003207	Arterial calcification	6772	STAT1	ORPHA:391487
HP:0003207	Arterial calcification	10043	TOM1	ORPHA:391487
HP:0003207	Arterial calcification	4907	NT5E	OMIM:211800
HP:0012456	Medial arterial calcification	6772	STAT1	ORPHA:391487
HP:0012456	Medial arterial calcification	10043	TOM1	ORPHA:391487
HP:0012456	Medial arterial calcification	368	ABCC6	OMIM:177850
HP:0012456	Medial arterial calcification	368	ABCC6	ORPHA:51608
HP:0012456	Medial arterial calcification	5167	ENPP1	ORPHA:51608
HP:0012457	Medial calcification of medium-sized arteries	368	ABCC6	OMIM:177850
HP:0012457	Medial calcification of medium-sized arteries	368	ABCC6	ORPHA:51608
HP:0012457	Medial calcification of medium-sized arteries	5167	ENPP1	ORPHA:51608
HP:0012450	Chronic constipation	3476	IGBP1	OMIM:300472
HP:0012450	Chronic constipation	6095	RORA	OMIM:618060
HP:0012450	Chronic constipation	23111	SPART	OMIM:275900
HP:0012450	Chronic constipation	25970	SH2B1	ORPHA:261222
HP:0012450	Chronic constipation	23394	ADNP	ORPHA:404448
HP:0012450	Chronic constipation	8367	H4C5	OMIM:619950
HP:0012450	Chronic constipation	23417	MLYCD	OMIM:248360
HP:0012450	Chronic constipation	7360	UGP2	OMIM:618744
HP:0012450	Chronic constipation	3008	H1-4	OMIM:617537
HP:0012450	Chronic constipation	26115	TANC2	OMIM:618906
HP:0012450	Chronic constipation	23126	POGZ	ORPHA:468678
HP:0012450	Chronic constipation	411	ARSB	OMIM:253200
HP:0012450	Chronic constipation	55209	SETD5	ORPHA:404440
HP:0012450	Chronic constipation	10743	RAI1	ORPHA:477817
HP:0012450	Chronic constipation	4210	MEFV	OMIM:249100
HP:0012450	Chronic constipation	3020	H3-3A	OMIM:619720
HP:0012450	Chronic constipation	29998	BICRA	OMIM:619325
HP:0012450	Chronic constipation	3021	H3-3B	OMIM:619721
HP:0012450	Chronic constipation	113179	ADAT3	ORPHA:363528
HP:0012450	Chronic constipation	51506	UFC1	OMIM:618076
HP:0012450	Chronic constipation	51111	KMT5B	OMIM:617788
HP:0012450	Chronic constipation	8239	USP9X	OMIM:300919
HP:0012450	Chronic constipation	166378	AFG2A	OMIM:616577
HP:0012450	Chronic constipation	4953	ODC1	ORPHA:544488
HP:0012450	Chronic constipation	3097	HIVEP2	OMIM:616977
HP:0012450	Chronic constipation	28960	DCPS	OMIM:616459
HP:0012450	Chronic constipation	55768	NGLY1	ORPHA:404454
HP:0012450	Chronic constipation	6904	TBCD	ORPHA:496641
HP:0012450	Chronic constipation	4001	LMNB1	OMIM:619179
HP:0012450	Chronic constipation	57551	TAOK1	OMIM:619575
HP:0012450	Chronic constipation	55870	ASH1L	OMIM:617796
HP:0012450	Chronic constipation	3899	AFF3	OMIM:619297
HP:0012450	Chronic constipation	9739	SETD1A	OMIM:619056
HP:0012450	Chronic constipation	7468	NSD2	OMIM:619695
HP:0012450	Chronic constipation	816	CAMK2B	OMIM:617799
HP:0012450	Chronic constipation	54551	MAGEL2	ORPHA:398069
HP:0012450	Chronic constipation	7132	TNFRSF1A	OMIM:142680
HP:0012450	Chronic constipation	84188	FAR1	OMIM:619338
HP:0012450	Chronic constipation	2629	GBA1	ORPHA:411602
HP:0012450	Chronic constipation	23317	DNAJC13	ORPHA:411602
HP:0012450	Chronic constipation	1981	EIF4G1	ORPHA:411602
HP:0012450	Chronic constipation	55737	VPS35	ORPHA:411602
HP:0012450	Chronic constipation	120892	LRRK2	ORPHA:411602
HP:0012450	Chronic constipation	26058	GIGYF2	ORPHA:411602
HP:0012450	Chronic constipation	6622	SNCA	ORPHA:411602
HP:0012450	Chronic constipation	9969	MED13	OMIM:618009
HP:0012450	Chronic constipation	1277	COL1A1	ORPHA:287
HP:0012450	Chronic constipation	1289	COL5A1	ORPHA:287
HP:0012450	Chronic constipation	1290	COL5A2	ORPHA:287
HP:0012450	Chronic constipation	7703	PCGF2	OMIM:618371
HP:0012450	Chronic constipation	10943	MSL3	OMIM:301032
HP:0012450	Chronic constipation	84823	LMNB2	OMIM:619180
HP:0012450	Chronic constipation	2064	ERBB2	OMIM:619465
HP:0012450	Chronic constipation	23036	ZNF292	OMIM:619188
HP:0012450	Chronic constipation	3188	HNRNPH2	OMIM:300986
HP:0012450	Chronic constipation	2257	FGF12	OMIM:617166
HP:0012450	Chronic constipation	25	ABL1	OMIM:617602
HP:0012450	Chronic constipation	2783	GNB2	OMIM:619503
HP:0012450	Chronic constipation	55186	SLC25A36	OMIM:620211
HP:0012450	Chronic constipation	9653	HS2ST1	OMIM:619194
HP:0012450	Chronic constipation	4629	MYH11	OMIM:619350
HP:0012450	Chronic constipation	1267	CNP	OMIM:619071
HP:0012450	Chronic constipation	5518	PPP2R1A	OMIM:616362
HP:0012450	Chronic constipation	7874	USP7	ORPHA:500055
HP:0012450	Chronic constipation	65109	UPF3B	OMIM:300676
HP:0012450	Chronic constipation	6608	SMO	OMIM:601707
HP:0012450	Chronic constipation	10526	IPO8	OMIM:619472
HP:0012450	Chronic constipation	5457	POU4F1	OMIM:619352
HP:0012450	Chronic constipation	51633	OTUD6B	OMIM:617452
HP:0012450	Chronic constipation	51633	OTUD6B	ORPHA:505237
HP:0012450	Chronic constipation	8929	PHOX2B	OMIM:209880
HP:0012450	Chronic constipation	7204	TRIO	OMIM:618825
HP:0012450	Chronic constipation	7204	TRIO	OMIM:617061
HP:0012450	Chronic constipation	7204	TRIO	ORPHA:476126
HP:0012450	Chronic constipation	5593	PRKG2	OMIM:619636
HP:0012450	Chronic constipation	1650	DDOST	OMIM:614507
HP:0012450	Chronic constipation	54499	TMCO1	OMIM:213980
HP:0012450	Chronic constipation	8936	WASF1	OMIM:618707
HP:0012450	Chronic constipation	8405	SPOP	OMIM:618829
HP:0012450	Chronic constipation	11198	SUPT16H	OMIM:619480
HP:0012450	Chronic constipation	283446	MYO1H	OMIM:619482
HP:0012450	Chronic constipation	57459	GATAD2B	ORPHA:363686
HP:0012450	Chronic constipation	6558	SLC12A2	OMIM:619080
HP:0012450	Chronic constipation	8567	MADD	OMIM:619004
HP:0012450	Chronic constipation	8567	MADD	OMIM:619005
HP:0012450	Chronic constipation	10660	LBX1	OMIM:619483
HP:0012450	Chronic constipation	10991	SLC38A3	OMIM:619881
HP:0012450	Chronic constipation	23261	CAMTA1	OMIM:614756
HP:0012450	Chronic constipation	5500	PPP1CB	OMIM:617506
HP:0012450	Chronic constipation	7841	MOGS	ORPHA:79330
HP:0012450	Chronic constipation	9338	TCEAL1	OMIM:301094
HP:0012450	Chronic constipation	51085	MLXIPL	OMIM:194050
HP:0012450	Chronic constipation	2006	ELN	OMIM:194050
HP:0012450	Chronic constipation	7030	TFE3	OMIM:301066
HP:0012450	Chronic constipation	1984	EIF5A	OMIM:619376
HP:0012450	Chronic constipation	64321	SOX17	OMIM:613674
HP:0012450	Chronic constipation	2890	GRIA1	OMIM:619931
HP:0012450	Chronic constipation	23219	FBXO28	OMIM:619777
HP:0012450	Chronic constipation	3110	MNX1	OMIM:176450
HP:0012450	Chronic constipation	4204	MECP2	OMIM:300260
HP:0012450	Chronic constipation	129285	PPP1R21	OMIM:619383
HP:0012450	Chronic constipation	2000	ELF4	OMIM:301074
HP:0012450	Chronic constipation	1387	CREBBP	OMIM:618332
HP:0012450	Chronic constipation	2033	EP300	OMIM:618333
HP:0012450	Chronic constipation	92935	MARS2	OMIM:616430
HP:0012450	Chronic constipation	7319	UBE2A	ORPHA:163956
HP:0012450	Chronic constipation	5062	PAK2	OMIM:618458
HP:0012450	Chronic constipation	81603	TRIM8	OMIM:619428
HP:0012450	Chronic constipation	5696	PSMB8	OMIM:256040
HP:0012450	Chronic constipation	4976	OPA1	OMIM:210000
HP:0002240	Hepatomegaly	861	RUNX1	ORPHA:98850
HP:0002240	Hepatomegaly	3071	NCKAP1L	OMIM:618982
HP:0002240	Hepatomegaly	2632	GBE1	OMIM:232500
HP:0002240	Hepatomegaly	55823	VPS11	ORPHA:466934
HP:0002240	Hepatomegaly	5880	RAC2	OMIM:618986
HP:0002240	Hepatomegaly	4023	LPL	OMIM:238600
HP:0002240	Hepatomegaly	6775	STAT4	ORPHA:85408
HP:0002240	Hepatomegaly	79722	ANKRD55	ORPHA:85408
HP:0002240	Hepatomegaly	26191	PTPN22	ORPHA:85408
HP:0002240	Hepatomegaly	919	CD247	ORPHA:85408
HP:0002240	Hepatomegaly	919	CD247	ORPHA:169160
HP:0002240	Hepatomegaly	3559	IL2RA	ORPHA:85408
HP:0002240	Hepatomegaly	3559	IL2RA	OMIM:606367
HP:0002240	Hepatomegaly	5771	PTPN2	ORPHA:85408
HP:0002240	Hepatomegaly	3459	IFNGR1	OMIM:209950
HP:0002240	Hepatomegaly	3716	JAK1	OMIM:618999
HP:0002240	Hepatomegaly	2122	MECOM	OMIM:616738
HP:0002240	Hepatomegaly	5476	CTSA	OMIM:256540
HP:0002240	Hepatomegaly	9382	COG1	ORPHA:263508
HP:0002240	Hepatomegaly	915	CD3D	ORPHA:169160
HP:0002240	Hepatomegaly	916	CD3E	ORPHA:169160
HP:0002240	Hepatomegaly	1777	DNASE2	OMIM:619858
HP:0002240	Hepatomegaly	3376	IARS1	ORPHA:541423
HP:0002240	Hepatomegaly	26154	ABCA12	OMIM:601277
HP:0002240	Hepatomegaly	7289	TULP3	OMIM:619902
HP:0002240	Hepatomegaly	672	BRCA1	ORPHA:1333
HP:0002240	Hepatomegaly	285282	RABL3	ORPHA:1333
HP:0002240	Hepatomegaly	7157	TP53	ORPHA:1333
HP:0002240	Hepatomegaly	675	BRCA2	ORPHA:1333
HP:0002240	Hepatomegaly	1029	CDKN2A	ORPHA:1333
HP:0002240	Hepatomegaly	79728	PALB2	ORPHA:1333
HP:0002240	Hepatomegaly	4089	SMAD4	ORPHA:1333
HP:0002240	Hepatomegaly	23022	PALLD	ORPHA:1333
HP:0002240	Hepatomegaly	2783	GNB2	OMIM:619503
HP:0002240	Hepatomegaly	9051	PSTPIP1	OMIM:604416
HP:0002240	Hepatomegaly	970	CD70	OMIM:618261
HP:0002240	Hepatomegaly	10043	TOM1	ORPHA:391487
HP:0002240	Hepatomegaly	3572	IL6ST	OMIM:619750
HP:0002240	Hepatomegaly	6774	STAT3	OMIM:615952
HP:0002240	Hepatomegaly	199221	DZIP1L	OMIM:617610
HP:0002240	Hepatomegaly	199221	DZIP1L	ORPHA:731
HP:0002240	Hepatomegaly	8517	IKBKG	OMIM:301081
HP:0002240	Hepatomegaly	2263	FGFR2	OMIM:614592
HP:0002240	Hepatomegaly	2263	FGFR2	ORPHA:313855
HP:0002240	Hepatomegaly	5788	PTPRC	OMIM:619924
HP:0002240	Hepatomegaly	9371	KIF3B	OMIM:618955
HP:0002240	Hepatomegaly	5294	PIK3CG	OMIM:619802
HP:0002240	Hepatomegaly	2729	GCLC	ORPHA:33574
HP:0002240	Hepatomegaly	3718	JAK3	ORPHA:35078
HP:0002240	Hepatomegaly	84868	HAVCR2	ORPHA:86884
HP:0002240	Hepatomegaly	2193	FARSA	OMIM:619013
HP:0002240	Hepatomegaly	3458	IFNG	OMIM:618963
HP:0002240	Hepatomegaly	9939	RBM8A	OMIM:274000
HP:0002240	Hepatomegaly	84153	RNASEH2C	OMIM:610329
HP:0002240	Hepatomegaly	84153	RNASEH2C	ORPHA:51
HP:0002240	Hepatomegaly	1513	CTSK	ORPHA:763
HP:0002240	Hepatomegaly	25939	SAMHD1	ORPHA:51
HP:0002240	Hepatomegaly	79621	RNASEH2B	ORPHA:51
HP:0002240	Hepatomegaly	134353	LSM11	ORPHA:51
HP:0002240	Hepatomegaly	6006	RHCE	ORPHA:71275
HP:0002240	Hepatomegaly	1374	CPT1A	ORPHA:156
HP:0002240	Hepatomegaly	1374	CPT1A	OMIM:255120
HP:0002240	Hepatomegaly	2137	EXTL3	ORPHA:508533
HP:0002240	Hepatomegaly	3561	IL2RG	ORPHA:276
HP:0002240	Hepatomegaly	3561	IL2RG	OMIM:300400
HP:0002240	Hepatomegaly	3561	IL2RG	ORPHA:39041
HP:0002240	Hepatomegaly	6584	SLC22A5	ORPHA:158
HP:0002240	Hepatomegaly	6584	SLC22A5	OMIM:212140
HP:0002240	Hepatomegaly	1497	CTNS	OMIM:219800
HP:0002240	Hepatomegaly	875	CBS	ORPHA:394
HP:0002240	Hepatomegaly	54539	NDUFB11	ORPHA:2609
HP:0002240	Hepatomegaly	25915	NDUFAF3	ORPHA:2609
HP:0002240	Hepatomegaly	51103	NDUFAF1	ORPHA:2609
HP:0002240	Hepatomegaly	51103	NDUFAF1	OMIM:618234
HP:0002240	Hepatomegaly	91942	NDUFAF2	ORPHA:2609
HP:0002240	Hepatomegaly	51300	TIMMDC1	ORPHA:2609
HP:0002240	Hepatomegaly	4716	NDUFB10	ORPHA:2609
HP:0002240	Hepatomegaly	4723	NDUFV1	ORPHA:2609
HP:0002240	Hepatomegaly	55572	FOXRED1	ORPHA:2609
HP:0002240	Hepatomegaly	284184	NDUFAF8	ORPHA:2609
HP:0002240	Hepatomegaly	55863	TMEM126B	ORPHA:2609
HP:0002240	Hepatomegaly	4535	MT-ND1	ORPHA:2609
HP:0002240	Hepatomegaly	4535	MT-ND1	ORPHA:255210
HP:0002240	Hepatomegaly	4537	MT-ND3	ORPHA:2609
HP:0002240	Hepatomegaly	4537	MT-ND3	ORPHA:255210
HP:0002240	Hepatomegaly	4729	NDUFV2	ORPHA:2609
HP:0002240	Hepatomegaly	4694	NDUFA1	ORPHA:2609
HP:0002240	Hepatomegaly	4720	NDUFS2	ORPHA:2609
HP:0002240	Hepatomegaly	4724	NDUFS4	ORPHA:2609
HP:0002240	Hepatomegaly	4724	NDUFS4	OMIM:252010
HP:0002240	Hepatomegaly	4726	NDUFS6	ORPHA:2609
HP:0002240	Hepatomegaly	4728	NDUFS8	ORPHA:2609
HP:0002240	Hepatomegaly	4722	NDUFS3	ORPHA:2609
HP:0002240	Hepatomegaly	79133	NDUFAF5	ORPHA:2609
HP:0002240	Hepatomegaly	126328	NDUFA11	ORPHA:2609
HP:0002240	Hepatomegaly	4709	NDUFB3	ORPHA:2609
HP:0002240	Hepatomegaly	80224	NUBPL	ORPHA:2609
HP:0002240	Hepatomegaly	29078	NDUFAF4	ORPHA:2609
HP:0002240	Hepatomegaly	374291	NDUFS7	ORPHA:2609
HP:0002240	Hepatomegaly	374291	NDUFS7	OMIM:618224
HP:0002240	Hepatomegaly	4700	NDUFA6	ORPHA:2609
HP:0002240	Hepatomegaly	4536	MT-ND2	ORPHA:2609
HP:0002240	Hepatomegaly	4536	MT-ND2	ORPHA:255210
HP:0002240	Hepatomegaly	4719	NDUFS1	ORPHA:2609
HP:0002240	Hepatomegaly	4719	NDUFS1	OMIM:618226
HP:0002240	Hepatomegaly	4715	NDUFB9	ORPHA:2609
HP:0002240	Hepatomegaly	229	ALDOB	OMIM:229600
HP:0002240	Hepatomegaly	229	ALDOB	ORPHA:469
HP:0002240	Hepatomegaly	57128	LYRM4	OMIM:615595
HP:0002240	Hepatomegaly	5728	PTEN	OMIM:605309
HP:0002240	Hepatomegaly	3783	KCNN4	OMIM:616689
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90324
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90321
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90322
HP:0002240	Hepatomegaly	1161	ERCC8	OMIM:216400
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90324
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90321
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90322
HP:0002240	Hepatomegaly	2074	ERCC6	OMIM:133540
HP:0002240	Hepatomegaly	55240	STEAP3	OMIM:615234
HP:0002240	Hepatomegaly	60684	TRAPPC11	OMIM:615356
HP:0002240	Hepatomegaly	60684	TRAPPC11	ORPHA:369840
HP:0002240	Hepatomegaly	19	ABCA1	OMIM:205400
HP:0002240	Hepatomegaly	63924	CIDEC	OMIM:615238
HP:0002240	Hepatomegaly	63924	CIDEC	ORPHA:435651
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230600
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230650
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230500
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:253010
HP:0002240	Hepatomegaly	84334	COA8	ORPHA:436271
HP:0002240	Hepatomegaly	148738	HJV	OMIM:602390
HP:0002240	Hepatomegaly	5830	PEX5	OMIM:214110
HP:0002240	Hepatomegaly	5830	PEX5	ORPHA:772
HP:0002240	Hepatomegaly	5830	PEX5	ORPHA:912
HP:0002240	Hepatomegaly	51	ACOX1	ORPHA:2971
HP:0002240	Hepatomegaly	51	ACOX1	OMIM:264470
HP:0002240	Hepatomegaly	80270	HSD3B7	ORPHA:79301
HP:0002240	Hepatomegaly	80270	HSD3B7	OMIM:607765
HP:0002240	Hepatomegaly	5314	PKHD1	ORPHA:53035
HP:0002240	Hepatomegaly	5314	PKHD1	OMIM:263200
HP:0002240	Hepatomegaly	2072	ERCC4	ORPHA:90321
HP:0002240	Hepatomegaly	51099	ABHD5	OMIM:275630
HP:0002240	Hepatomegaly	51099	ABHD5	ORPHA:98907
HP:0002240	Hepatomegaly	6718	AKR1D1	ORPHA:79303
HP:0002240	Hepatomegaly	6718	AKR1D1	OMIM:235555
HP:0002240	Hepatomegaly	2067	ERCC1	ORPHA:90322
HP:0002240	Hepatomegaly	4538	MT-ND4	ORPHA:255210
HP:0002240	Hepatomegaly	4567	MT-TL1	ORPHA:255210
HP:0002240	Hepatomegaly	4578	MT-TW	ORPHA:255210
HP:0002240	Hepatomegaly	4577	MT-TV	ORPHA:255210
HP:0002240	Hepatomegaly	4508	MT-ATP6	ORPHA:255210
HP:0002240	Hepatomegaly	4540	MT-ND5	ORPHA:255210
HP:0002240	Hepatomegaly	4541	MT-ND6	ORPHA:255210
HP:0002240	Hepatomegaly	4566	MT-TK	ORPHA:255210
HP:0002240	Hepatomegaly	4233	MET	ORPHA:33402
HP:0002240	Hepatomegaly	1499	CTNNB1	ORPHA:33402
HP:0002240	Hepatomegaly	197131	UBR1	OMIM:243800
HP:0002240	Hepatomegaly	4210	MEFV	OMIM:249100
HP:0002240	Hepatomegaly	939	CD27	OMIM:615122
HP:0002240	Hepatomegaly	4141	MARS1	OMIM:615486
HP:0002240	Hepatomegaly	3162	HMOX1	OMIM:614034
HP:0002240	Hepatomegaly	5184	PEPD	OMIM:170100
HP:0002240	Hepatomegaly	5184	PEPD	ORPHA:742
HP:0002240	Hepatomegaly	65082	VPS33A	OMIM:617303
HP:0002240	Hepatomegaly	84936	ZFYVE19	OMIM:619849
HP:0002240	Hepatomegaly	129563	DIS3L2	ORPHA:2849
HP:0002240	Hepatomegaly	4000	LMNA	OMIM:248370
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:280365
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:79084
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:2348
HP:0002240	Hepatomegaly	4000	LMNA	OMIM:151660
HP:0002240	Hepatomegaly	51473	DCDC2	OMIM:616217
HP:0002240	Hepatomegaly	51473	DCDC2	OMIM:617394
HP:0002240	Hepatomegaly	55768	NGLY1	ORPHA:404454
HP:0002240	Hepatomegaly	55768	NGLY1	OMIM:615273
HP:0002240	Hepatomegaly	79158	GNPTAB	OMIM:252500
HP:0002240	Hepatomegaly	7086	TKT	ORPHA:488618
HP:0002240	Hepatomegaly	1536	CYBB	ORPHA:379
HP:0002240	Hepatomegaly	1536	CYBB	OMIM:306400
HP:0002240	Hepatomegaly	4688	NCF2	ORPHA:379
HP:0002240	Hepatomegaly	4688	NCF2	OMIM:233710
HP:0002240	Hepatomegaly	1535	CYBA	ORPHA:379
HP:0002240	Hepatomegaly	1535	CYBA	OMIM:233690
HP:0002240	Hepatomegaly	4689	NCF4	ORPHA:379
HP:0002240	Hepatomegaly	653361	NCF1	ORPHA:379
HP:0002240	Hepatomegaly	653361	NCF1	OMIM:233700
HP:0002240	Hepatomegaly	79415	CYBC1	ORPHA:379
HP:0002240	Hepatomegaly	5189	PEX1	OMIM:214100
HP:0002240	Hepatomegaly	5189	PEX1	OMIM:601539
HP:0002240	Hepatomegaly	5189	PEX1	ORPHA:772
HP:0002240	Hepatomegaly	5189	PEX1	ORPHA:912
HP:0002240	Hepatomegaly	2212	FCGR2A	OMIM:219700
HP:0002240	Hepatomegaly	7040	TGFB1	OMIM:219700
HP:0002240	Hepatomegaly	7040	TGFB1	ORPHA:1328
HP:0002240	Hepatomegaly	1080	CFTR	OMIM:219700
HP:0002240	Hepatomegaly	6023	RMRP	ORPHA:175
HP:0002240	Hepatomegaly	6023	RMRP	ORPHA:39041
HP:0002240	Hepatomegaly	55687	TRMU	OMIM:613070
HP:0002240	Hepatomegaly	55687	TRMU	ORPHA:254864
HP:0002240	Hepatomegaly	6772	STAT1	OMIM:614162
HP:0002240	Hepatomegaly	23495	TNFRSF13B	OMIM:240500
HP:0002240	Hepatomegaly	115650	TNFRSF13C	OMIM:240500
HP:0002240	Hepatomegaly	1380	CR2	OMIM:240500
HP:0002240	Hepatomegaly	29851	ICOS	OMIM:240500
HP:0002240	Hepatomegaly	29851	ICOS	OMIM:607594
HP:0002240	Hepatomegaly	930	CD19	OMIM:240500
HP:0002240	Hepatomegaly	60561	RINT1	OMIM:618641
HP:0002240	Hepatomegaly	2859	GPR35	ORPHA:171
HP:0002240	Hepatomegaly	10507	SEMA4D	ORPHA:171
HP:0002240	Hepatomegaly	4485	MST1	ORPHA:171
HP:0002240	Hepatomegaly	6925	TCF4	ORPHA:171
HP:0002240	Hepatomegaly	5105	PCK1	OMIM:261680
HP:0002240	Hepatomegaly	103	ADAR	OMIM:615010
HP:0002240	Hepatomegaly	1493	CTLA4	OMIM:616100
HP:0002240	Hepatomegaly	1493	CTLA4	ORPHA:3162
HP:0002240	Hepatomegaly	1493	CTLA4	ORPHA:2584
HP:0002240	Hepatomegaly	130589	GALM	OMIM:618881
HP:0002240	Hepatomegaly	130589	GALM	ORPHA:570422
HP:0002240	Hepatomegaly	91869	RFT1	ORPHA:244310
HP:0002240	Hepatomegaly	91869	RFT1	OMIM:612015
HP:0002240	Hepatomegaly	11232	POLG2	OMIM:618528
HP:0002240	Hepatomegaly	5155	PDGFB	ORPHA:1980
HP:0002240	Hepatomegaly	9213	XPR1	ORPHA:1980
HP:0002240	Hepatomegaly	5159	PDGFRB	ORPHA:1980
HP:0002240	Hepatomegaly	57462	MYORG	ORPHA:1980
HP:0002240	Hepatomegaly	6575	SLC20A2	ORPHA:1980
HP:0002240	Hepatomegaly	58494	JAM2	ORPHA:1980
HP:0002240	Hepatomegaly	55109	AGGF1	ORPHA:90308
HP:0002240	Hepatomegaly	1716	DGUOK	OMIM:251880
HP:0002240	Hepatomegaly	1716	DGUOK	OMIM:617068
HP:0002240	Hepatomegaly	5424	POLD1	OMIM:615381
HP:0002240	Hepatomegaly	57231	SNX14	OMIM:616354
HP:0002240	Hepatomegaly	28755	TRAC	OMIM:615387
HP:0002240	Hepatomegaly	1371	CPOX	OMIM:618892
HP:0002240	Hepatomegaly	1371	CPOX	OMIM:121300
HP:0002240	Hepatomegaly	388962	BOLA3	OMIM:614299
HP:0002240	Hepatomegaly	4645	MYO5B	OMIM:619868
HP:0002240	Hepatomegaly	788	SLC25A20	ORPHA:159
HP:0002240	Hepatomegaly	788	SLC25A20	OMIM:212138
HP:0002240	Hepatomegaly	5373	PMM2	OMIM:212065
HP:0002240	Hepatomegaly	3039	HBA1	ORPHA:163596
HP:0002240	Hepatomegaly	3039	HBA1	OMIM:613978
HP:0002240	Hepatomegaly	3040	HBA2	ORPHA:163596
HP:0002240	Hepatomegaly	3040	HBA2	OMIM:613978
HP:0002240	Hepatomegaly	1244	ABCC2	ORPHA:234
HP:0002240	Hepatomegaly	9056	SLC7A7	ORPHA:470
HP:0002240	Hepatomegaly	9056	SLC7A7	OMIM:222700
HP:0002240	Hepatomegaly	1186	CLCN7	OMIM:618541
HP:0002240	Hepatomegaly	1186	CLCN7	ORPHA:667
HP:0002240	Hepatomegaly	1186	CLCN7	OMIM:611490
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:46532
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:231214
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:231222
HP:0002240	Hepatomegaly	3043	HBB	OMIM:603903
HP:0002240	Hepatomegaly	3043	HBB	OMIM:603902
HP:0002240	Hepatomegaly	10661	KLF1	ORPHA:46532
HP:0002240	Hepatomegaly	10661	KLF1	OMIM:613673
HP:0002240	Hepatomegaly	3047	HBG1	ORPHA:46532
HP:0002240	Hepatomegaly	3048	HBG2	ORPHA:46532
HP:0002240	Hepatomegaly	3048	HBG2	OMIM:613977
HP:0002240	Hepatomegaly	5311	PKD2	OMIM:613095
HP:0002240	Hepatomegaly	8482	SEMA7A	OMIM:619874
HP:0002240	Hepatomegaly	2200	FBN1	OMIM:614185
HP:0002240	Hepatomegaly	54914	FOCAD	OMIM:619991
HP:0002240	Hepatomegaly	10068	IL18BP	OMIM:618549
HP:0002240	Hepatomegaly	7381	UQCRB	OMIM:615158
HP:0002240	Hepatomegaly	2592	GALT	OMIM:230400
HP:0002240	Hepatomegaly	2592	GALT	ORPHA:79239
HP:0002240	Hepatomegaly	5836	PYGL	OMIM:232700
HP:0002240	Hepatomegaly	5836	PYGL	ORPHA:369
HP:0002240	Hepatomegaly	54440	SASH3	OMIM:301082
HP:0002240	Hepatomegaly	2517	FUCA1	ORPHA:349
HP:0002240	Hepatomegaly	2517	FUCA1	OMIM:230000
HP:0002240	Hepatomegaly	285362	SUMF1	OMIM:272200
HP:0002240	Hepatomegaly	285362	SUMF1	ORPHA:585
HP:0002240	Hepatomegaly	2203	FBP1	ORPHA:348
HP:0002240	Hepatomegaly	2203	FBP1	OMIM:229700
HP:0002240	Hepatomegaly	166785	MMAA	OMIM:251100
HP:0002240	Hepatomegaly	85365	ALG2	ORPHA:79326
HP:0002240	Hepatomegaly	85365	ALG2	OMIM:607906
HP:0002240	Hepatomegaly	4598	MVK	ORPHA:343
HP:0002240	Hepatomegaly	64421	DCLRE1C	OMIM:603554
HP:0002240	Hepatomegaly	64421	DCLRE1C	OMIM:602450
HP:0002240	Hepatomegaly	64421	DCLRE1C	ORPHA:39041
HP:0002240	Hepatomegaly	5896	RAG1	OMIM:603554
HP:0002240	Hepatomegaly	5896	RAG1	ORPHA:39041
HP:0002240	Hepatomegaly	5896	RAG1	ORPHA:331206
HP:0002240	Hepatomegaly	5897	RAG2	OMIM:603554
HP:0002240	Hepatomegaly	5897	RAG2	ORPHA:39041
HP:0002240	Hepatomegaly	5897	RAG2	ORPHA:331206
HP:0002240	Hepatomegaly	5551	PRF1	OMIM:603553
HP:0002240	Hepatomegaly	5551	PRF1	ORPHA:540
HP:0002240	Hepatomegaly	79796	ALG9	ORPHA:79328
HP:0002240	Hepatomegaly	79796	ALG9	OMIM:608776
HP:0002240	Hepatomegaly	8676	STX11	OMIM:603552
HP:0002240	Hepatomegaly	8676	STX11	ORPHA:540
HP:0002240	Hepatomegaly	5244	ABCB4	OMIM:602347
HP:0002240	Hepatomegaly	57169	ZNFX1	OMIM:619644
HP:0002240	Hepatomegaly	11311	VPS45	OMIM:615285
HP:0002240	Hepatomegaly	10991	SLC38A3	OMIM:619881
HP:0002240	Hepatomegaly	11231	SEC63	ORPHA:2924
HP:0002240	Hepatomegaly	11231	SEC63	OMIM:617004
HP:0002240	Hepatomegaly	5589	PRKCSH	ORPHA:2924
HP:0002240	Hepatomegaly	4041	LRP5	ORPHA:2924
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:619525
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:232220
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:232240
HP:0002240	Hepatomegaly	2542	SLC37A4	ORPHA:79259
HP:0002240	Hepatomegaly	7841	MOGS	ORPHA:79330
HP:0002240	Hepatomegaly	7841	MOGS	OMIM:606056
HP:0002240	Hepatomegaly	540	ATP7B	OMIM:277900
HP:0002240	Hepatomegaly	540	ATP7B	ORPHA:905
HP:0002240	Hepatomegaly	2683	B4GALT1	ORPHA:79332
HP:0002240	Hepatomegaly	91949	COG7	ORPHA:79333
HP:0002240	Hepatomegaly	91949	COG7	OMIM:608779
HP:0002240	Hepatomegaly	57104	PNPLA2	OMIM:610717
HP:0002240	Hepatomegaly	57104	PNPLA2	ORPHA:565612
HP:0002240	Hepatomegaly	57104	PNPLA2	ORPHA:98908
HP:0002240	Hepatomegaly	38	ACAT1	ORPHA:134
HP:0002240	Hepatomegaly	9968	MED12	OMIM:301068
HP:0002240	Hepatomegaly	3930	LBR	OMIM:215140
HP:0002240	Hepatomegaly	3930	LBR	ORPHA:779
HP:0002240	Hepatomegaly	3930	LBR	OMIM:613471
HP:0002240	Hepatomegaly	4351	MPI	ORPHA:79319
HP:0002240	Hepatomegaly	4351	MPI	OMIM:602579
HP:0002240	Hepatomegaly	7030	TFE3	OMIM:301066
HP:0002240	Hepatomegaly	2239	GPC4	ORPHA:373
HP:0002240	Hepatomegaly	2239	GPC4	OMIM:312870
HP:0002240	Hepatomegaly	2719	GPC3	ORPHA:373
HP:0002240	Hepatomegaly	2719	GPC3	OMIM:312870
HP:0002240	Hepatomegaly	811	CALR	ORPHA:131
HP:0002240	Hepatomegaly	811	CALR	ORPHA:824
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:131
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:824
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:729
HP:0002240	Hepatomegaly	2153	F5	ORPHA:131
HP:0002240	Hepatomegaly	51651	PTRH2	OMIM:616263
HP:0002240	Hepatomegaly	51651	PTRH2	ORPHA:456312
HP:0002240	Hepatomegaly	5966	REL	OMIM:619652
HP:0002240	Hepatomegaly	23162	MAPK8IP3	OMIM:618443
HP:0002240	Hepatomegaly	5692	PSMB4	OMIM:617591
HP:0002240	Hepatomegaly	5698	PSMB9	OMIM:617591
HP:0002240	Hepatomegaly	79989	IFT56	OMIM:619534
HP:0002240	Hepatomegaly	3423	IDS	OMIM:309900
HP:0002240	Hepatomegaly	5286	PIK3C2A	OMIM:618440
HP:0002240	Hepatomegaly	8565	YARS1	OMIM:619418
HP:0002240	Hepatomegaly	84168	ANTXR1	OMIM:230740
HP:0002240	Hepatomegaly	3172	HNF4A	OMIM:616026
HP:0002240	Hepatomegaly	3172	HNF4A	ORPHA:263455
HP:0002240	Hepatomegaly	654	BMP6	ORPHA:465508
HP:0002240	Hepatomegaly	3077	HFE	ORPHA:465508
HP:0002240	Hepatomegaly	3077	HFE	OMIM:235200
HP:0002240	Hepatomegaly	2184	FAH	OMIM:276700
HP:0002240	Hepatomegaly	2184	FAH	ORPHA:882
HP:0002240	Hepatomegaly	8813	DPM1	ORPHA:79322
HP:0002240	Hepatomegaly	8813	DPM1	OMIM:608799
HP:0002240	Hepatomegaly	51311	TLR8	OMIM:301078
HP:0002240	Hepatomegaly	1616	DAXX	ORPHA:100075
HP:0002240	Hepatomegaly	546	ATRX	ORPHA:100075
HP:0002240	Hepatomegaly	4615	MYD88	ORPHA:33226
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77261
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77260
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77259
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:230800
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:230900
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:608013
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:231005
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:231000
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:85212
HP:0002240	Hepatomegaly	6576	SLC25A1	OMIM:615182
HP:0002240	Hepatomegaly	6927	HNF1A	ORPHA:324575
HP:0002240	Hepatomegaly	9742	IFT140	OMIM:266920
HP:0002240	Hepatomegaly	205327	C2orf69	OMIM:619423
HP:0002240	Hepatomegaly	4633	MYL2	OMIM:619424
HP:0002240	Hepatomegaly	5825	ABCD3	OMIM:616278
HP:0002240	Hepatomegaly	5256	PHKA2	ORPHA:264580
HP:0002240	Hepatomegaly	5256	PHKA2	OMIM:306000
HP:0002240	Hepatomegaly	5261	PHKG2	ORPHA:264580
HP:0002240	Hepatomegaly	5261	PHKG2	OMIM:613027
HP:0002240	Hepatomegaly	113220	KIF12	OMIM:619662
HP:0002240	Hepatomegaly	3000	GUCY2D	OMIM:204000
HP:0002240	Hepatomegaly	344	APOC2	OMIM:207750
HP:0002240	Hepatomegaly	5277	PIGA	OMIM:301072
HP:0002240	Hepatomegaly	5277	PIGA	OMIM:300868
HP:0002240	Hepatomegaly	846	CASR	OMIM:239200
HP:0002240	Hepatomegaly	846	CASR	ORPHA:417
HP:0002240	Hepatomegaly	4594	MMUT	ORPHA:79312
HP:0002240	Hepatomegaly	4594	MMUT	ORPHA:289916
HP:0002240	Hepatomegaly	4594	MMUT	OMIM:251000
HP:0002240	Hepatomegaly	950	SCARB2	ORPHA:77259
HP:0002240	Hepatomegaly	3155	HMGCL	ORPHA:20
HP:0002240	Hepatomegaly	3155	HMGCL	OMIM:246450
HP:0002240	Hepatomegaly	65992	DDRGK1	OMIM:602557
HP:0002240	Hepatomegaly	6448	SGSH	OMIM:252900
HP:0002240	Hepatomegaly	10466	COG5	ORPHA:263487
HP:0002240	Hepatomegaly	10112	KIF20A	OMIM:619433
HP:0002240	Hepatomegaly	10112	KIF20A	ORPHA:75249
HP:0002240	Hepatomegaly	331	XIAP	OMIM:300635
HP:0002240	Hepatomegaly	331	XIAP	OMIM:308240
HP:0002240	Hepatomegaly	54517	PUS7	OMIM:618342
HP:0002240	Hepatomegaly	85476	GFM1	OMIM:609060
HP:0002240	Hepatomegaly	8818	DPM2	ORPHA:329178
HP:0002240	Hepatomegaly	9842	PLEKHM1	OMIM:618107
HP:0002240	Hepatomegaly	959	CD40LG	OMIM:308230
HP:0002240	Hepatomegaly	10102	TSFM	OMIM:610505
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:75564
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:98849
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:824
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:729
HP:0002240	Hepatomegaly	23451	SF3B1	ORPHA:75564
HP:0002240	Hepatomegaly	10312	TCIRG1	ORPHA:667
HP:0002240	Hepatomegaly	10312	TCIRG1	OMIM:259700
HP:0002240	Hepatomegaly	29887	SNX10	ORPHA:667
HP:0002240	Hepatomegaly	29887	SNX10	OMIM:615085
HP:0002240	Hepatomegaly	8600	TNFSF11	ORPHA:667
HP:0002240	Hepatomegaly	5095	PCCA	ORPHA:35
HP:0002240	Hepatomegaly	5095	PCCA	OMIM:606054
HP:0002240	Hepatomegaly	5096	PCCB	ORPHA:35
HP:0002240	Hepatomegaly	5096	PCCB	OMIM:606054
HP:0002240	Hepatomegaly	201294	UNC13D	ORPHA:540
HP:0002240	Hepatomegaly	6813	STXBP2	ORPHA:540
HP:0002240	Hepatomegaly	55315	SLC29A3	OMIM:602782
HP:0002240	Hepatomegaly	6514	SLC2A2	OMIM:227810
HP:0002240	Hepatomegaly	6514	SLC2A2	ORPHA:2088
HP:0002240	Hepatomegaly	11277	TREX1	OMIM:225750
HP:0002240	Hepatomegaly	4695	NDUFA2	OMIM:618235
HP:0002240	Hepatomegaly	79868	ALG13	OMIM:300884
HP:0002240	Hepatomegaly	51119	SBDS	OMIM:260400
HP:0002240	Hepatomegaly	51119	SBDS	ORPHA:811
HP:0002240	Hepatomegaly	134218	DNAJC21	OMIM:260400
HP:0002240	Hepatomegaly	134218	DNAJC21	ORPHA:811
HP:0002240	Hepatomegaly	6729	SRP54	OMIM:260400
HP:0002240	Hepatomegaly	6729	SRP54	ORPHA:811
HP:0002240	Hepatomegaly	22861	NLRP1	OMIM:617388
HP:0002240	Hepatomegaly	5660	PSAP	OMIM:611721
HP:0002240	Hepatomegaly	5660	PSAP	OMIM:610539
HP:0002240	Hepatomegaly	5660	PSAP	ORPHA:139406
HP:0002240	Hepatomegaly	55503	TRPV6	ORPHA:417
HP:0002240	Hepatomegaly	1130	LYST	OMIM:214500
HP:0002240	Hepatomegaly	348	APOE	ORPHA:412
HP:0002240	Hepatomegaly	348	APOE	ORPHA:158029
HP:0002240	Hepatomegaly	4068	SH2D1A	OMIM:308240
HP:0002240	Hepatomegaly	10166	SLC25A15	ORPHA:415
HP:0002240	Hepatomegaly	10166	SLC25A15	OMIM:238970
HP:0002240	Hepatomegaly	114548	NLRP3	ORPHA:575
HP:0002240	Hepatomegaly	114548	NLRP3	ORPHA:1451
HP:0002240	Hepatomegaly	537	ATP6AP1	OMIM:300972
HP:0002240	Hepatomegaly	34	ACADM	OMIM:201450
HP:0002240	Hepatomegaly	34	ACADM	ORPHA:42
HP:0002240	Hepatomegaly	4125	MAN2B1	OMIM:248500
HP:0002240	Hepatomegaly	50619	DEF6	OMIM:619573
HP:0002240	Hepatomegaly	3756	KCNH1	OMIM:135500
HP:0002240	Hepatomegaly	3756	KCNH1	ORPHA:3473
HP:0002240	Hepatomegaly	3394	IRF8	OMIM:226990
HP:0002240	Hepatomegaly	7468	NSD2	OMIM:619695
HP:0002240	Hepatomegaly	11274	USP18	OMIM:617397
HP:0002240	Hepatomegaly	4864	NPC1	OMIM:257220
HP:0002240	Hepatomegaly	3158	HMGCS2	OMIM:605911
HP:0002240	Hepatomegaly	4547	MTTP	ORPHA:14
HP:0002240	Hepatomegaly	112812	FDX2	OMIM:251900
HP:0002240	Hepatomegaly	4556	MT-TE	ORPHA:254864
HP:0002240	Hepatomegaly	55630	SLC39A4	OMIM:201100
HP:0002240	Hepatomegaly	9451	EIF2AK3	OMIM:226980
HP:0002240	Hepatomegaly	9451	EIF2AK3	ORPHA:1667
HP:0002240	Hepatomegaly	8802	SUCLG1	ORPHA:17
HP:0002240	Hepatomegaly	6007	RHD	OMIM:619462
HP:0002240	Hepatomegaly	55340	GIMAP5	OMIM:619463
HP:0002240	Hepatomegaly	3560	IL2RB	OMIM:618495
HP:0002240	Hepatomegaly	8883	NAE1	OMIM:620210
HP:0002240	Hepatomegaly	84701	COX4I2	OMIM:612714
HP:0002240	Hepatomegaly	60386	SLC25A19	ORPHA:99742
HP:0002240	Hepatomegaly	60386	SLC25A19	OMIM:607196
HP:0002240	Hepatomegaly	56244	BTNL2	ORPHA:797
HP:0002240	Hepatomegaly	56244	BTNL2	OMIM:612387
HP:0002240	Hepatomegaly	3123	HLA-DRB1	ORPHA:797
HP:0002240	Hepatomegaly	3123	HLA-DRB1	ORPHA:85414
HP:0002240	Hepatomegaly	3123	HLA-DRB1	OMIM:181000
HP:0002240	Hepatomegaly	650	BMP2	OMIM:235200
HP:0002240	Hepatomegaly	8943	AP3D1	OMIM:617050
HP:0002240	Hepatomegaly	37	ACADVL	OMIM:201475
HP:0002240	Hepatomegaly	37	ACADVL	ORPHA:26793
HP:0002240	Hepatomegaly	57003	CCDC47	OMIM:618268
HP:0002240	Hepatomegaly	57061	HYMAI	ORPHA:96191
HP:0002240	Hepatomegaly	5325	PLAGL1	ORPHA:96191
HP:0002240	Hepatomegaly	570	BAAT	OMIM:619232
HP:0002240	Hepatomegaly	94005	PIGS	OMIM:618143
HP:0002240	Hepatomegaly	435	ASL	OMIM:207900
HP:0002240	Hepatomegaly	3643	INSR	ORPHA:508
HP:0002240	Hepatomegaly	83706	FERMT3	OMIM:612840
HP:0002240	Hepatomegaly	9420	CYP7B1	OMIM:613812
HP:0002240	Hepatomegaly	84665	MYPN	ORPHA:75249
HP:0002240	Hepatomegaly	2318	FLNC	ORPHA:75249
HP:0002240	Hepatomegaly	7139	TNNT2	ORPHA:75249
HP:0002240	Hepatomegaly	7137	TNNI3	ORPHA:75249
HP:0002240	Hepatomegaly	55636	CHD7	ORPHA:39041
HP:0002240	Hepatomegaly	3981	LIG4	ORPHA:39041
HP:0002240	Hepatomegaly	3981	LIG4	ORPHA:99812
HP:0002240	Hepatomegaly	100	ADA	ORPHA:39041
HP:0002240	Hepatomegaly	100	ADA	OMIM:102700
HP:0002240	Hepatomegaly	3575	IL7R	ORPHA:39041
HP:0002240	Hepatomegaly	3575	IL7R	OMIM:608971
HP:0002240	Hepatomegaly	100147744	RNU7-1	OMIM:619487
HP:0002240	Hepatomegaly	7504	XK	OMIM:300842
HP:0002240	Hepatomegaly	8567	MADD	OMIM:619004
HP:0002240	Hepatomegaly	8567	MADD	OMIM:619005
HP:0002240	Hepatomegaly	374354	NHLRC2	OMIM:618278
HP:0002240	Hepatomegaly	374879	ZNF699	OMIM:619488
HP:0002240	Hepatomegaly	10651	MTX2	OMIM:619127
HP:0002240	Hepatomegaly	226	ALDOA	OMIM:611881
HP:0002240	Hepatomegaly	3557	IL1RN	OMIM:612852
HP:0002240	Hepatomegaly	7284	TUFM	OMIM:610678
HP:0002240	Hepatomegaly	2799	GNS	OMIM:252940
HP:0002240	Hepatomegaly	3030	HADHA	OMIM:609016
HP:0002240	Hepatomegaly	3030	HADHA	ORPHA:5
HP:0002240	Hepatomegaly	10551	AGR2	OMIM:620233
HP:0002240	Hepatomegaly	55670	PEX26	ORPHA:772
HP:0002240	Hepatomegaly	55670	PEX26	OMIM:614872
HP:0002240	Hepatomegaly	55670	PEX26	ORPHA:912
HP:0002240	Hepatomegaly	5824	PEX19	ORPHA:772
HP:0002240	Hepatomegaly	5824	PEX19	ORPHA:912
HP:0002240	Hepatomegaly	5828	PEX2	ORPHA:772
HP:0002240	Hepatomegaly	5828	PEX2	OMIM:614866
HP:0002240	Hepatomegaly	5828	PEX2	ORPHA:912
HP:0002240	Hepatomegaly	8504	PEX3	ORPHA:772
HP:0002240	Hepatomegaly	8504	PEX3	OMIM:614882
HP:0002240	Hepatomegaly	8504	PEX3	ORPHA:912
HP:0002240	Hepatomegaly	9409	PEX16	ORPHA:772
HP:0002240	Hepatomegaly	9409	PEX16	OMIM:614876
HP:0002240	Hepatomegaly	9409	PEX16	ORPHA:912
HP:0002240	Hepatomegaly	5190	PEX6	ORPHA:772
HP:0002240	Hepatomegaly	5190	PEX6	OMIM:614862
HP:0002240	Hepatomegaly	5190	PEX6	OMIM:614863
HP:0002240	Hepatomegaly	5190	PEX6	ORPHA:912
HP:0002240	Hepatomegaly	8799	PEX11B	ORPHA:772
HP:0002240	Hepatomegaly	8799	PEX11B	ORPHA:912
HP:0002240	Hepatomegaly	5193	PEX12	ORPHA:772
HP:0002240	Hepatomegaly	5193	PEX12	OMIM:614859
HP:0002240	Hepatomegaly	5193	PEX12	ORPHA:912
HP:0002240	Hepatomegaly	5193	PEX12	OMIM:266510
HP:0002240	Hepatomegaly	5194	PEX13	ORPHA:772
HP:0002240	Hepatomegaly	5194	PEX13	ORPHA:912
HP:0002240	Hepatomegaly	5195	PEX14	ORPHA:772
HP:0002240	Hepatomegaly	5195	PEX14	OMIM:614887
HP:0002240	Hepatomegaly	5195	PEX14	ORPHA:912
HP:0002240	Hepatomegaly	5192	PEX10	ORPHA:772
HP:0002240	Hepatomegaly	5192	PEX10	OMIM:614870
HP:0002240	Hepatomegaly	5192	PEX10	ORPHA:912
HP:0002240	Hepatomegaly	3988	LIPA	ORPHA:75233
HP:0002240	Hepatomegaly	3988	LIPA	ORPHA:75234
HP:0002240	Hepatomegaly	3988	LIPA	OMIM:278000
HP:0002240	Hepatomegaly	940	CD28	ORPHA:3162
HP:0002240	Hepatomegaly	940	CD28	ORPHA:2584
HP:0002240	Hepatomegaly	7133	TNFRSF1B	ORPHA:3162
HP:0002240	Hepatomegaly	7133	TNFRSF1B	ORPHA:2584
HP:0002240	Hepatomegaly	7390	UROS	OMIM:263700
HP:0002240	Hepatomegaly	8651	SOCS1	OMIM:619375
HP:0002240	Hepatomegaly	9487	PIGL	OMIM:280000
HP:0002240	Hepatomegaly	383	ARG1	OMIM:207800
HP:0002240	Hepatomegaly	5236	PGM1	OMIM:614921
HP:0002240	Hepatomegaly	55005	RMND1	OMIM:614922
HP:0002240	Hepatomegaly	79651	RHBDF2	ORPHA:2198
HP:0002240	Hepatomegaly	3295	HSD17B4	OMIM:261515
HP:0002240	Hepatomegaly	22800	RRAS2	ORPHA:648
HP:0002240	Hepatomegaly	867	CBL	ORPHA:648
HP:0002240	Hepatomegaly	8216	LZTR1	ORPHA:648
HP:0002240	Hepatomegaly	6016	RIT1	ORPHA:648
HP:0002240	Hepatomegaly	6237	RRAS	ORPHA:648
HP:0002240	Hepatomegaly	5894	RAF1	ORPHA:648
HP:0002240	Hepatomegaly	22808	MRAS	ORPHA:648
HP:0002240	Hepatomegaly	3845	KRAS	ORPHA:648
HP:0002240	Hepatomegaly	3845	KRAS	OMIM:614470
HP:0002240	Hepatomegaly	200734	SPRED2	ORPHA:648
HP:0002240	Hepatomegaly	4893	NRAS	ORPHA:648
HP:0002240	Hepatomegaly	4893	NRAS	OMIM:614470
HP:0002240	Hepatomegaly	6654	SOS1	ORPHA:648
HP:0002240	Hepatomegaly	6655	SOS2	ORPHA:648
HP:0002240	Hepatomegaly	5781	PTPN11	ORPHA:648
HP:0002240	Hepatomegaly	5922	RASA2	ORPHA:648
HP:0002240	Hepatomegaly	138050	HGSNAT	OMIM:252930
HP:0002240	Hepatomegaly	10020	GNE	ORPHA:3166
HP:0002240	Hepatomegaly	10020	GNE	OMIM:269921
HP:0002240	Hepatomegaly	1376	CPT2	ORPHA:228305
HP:0002240	Hepatomegaly	1376	CPT2	ORPHA:228308
HP:0002240	Hepatomegaly	1376	CPT2	OMIM:600649
HP:0002240	Hepatomegaly	1376	CPT2	OMIM:608836
HP:0002240	Hepatomegaly	5468	PPARG	ORPHA:528
HP:0002240	Hepatomegaly	5468	PPARG	ORPHA:79083
HP:0002240	Hepatomegaly	10555	AGPAT2	ORPHA:528
HP:0002240	Hepatomegaly	10555	AGPAT2	OMIM:608594
HP:0002240	Hepatomegaly	284119	CAVIN1	ORPHA:528
HP:0002240	Hepatomegaly	284119	CAVIN1	OMIM:613327
HP:0002240	Hepatomegaly	26580	BSCL2	ORPHA:528
HP:0002240	Hepatomegaly	26580	BSCL2	OMIM:615924
HP:0002240	Hepatomegaly	26580	BSCL2	ORPHA:363400
HP:0002240	Hepatomegaly	26580	BSCL2	OMIM:269700
HP:0002240	Hepatomegaly	2353	FOS	ORPHA:528
HP:0002240	Hepatomegaly	857	CAV1	ORPHA:528
HP:0002240	Hepatomegaly	857	CAV1	OMIM:612526
HP:0002240	Hepatomegaly	124454	EARS2	OMIM:614924
HP:0002240	Hepatomegaly	1719	DHFR	OMIM:613839
HP:0002240	Hepatomegaly	64131	XYLT1	ORPHA:370930
HP:0002240	Hepatomegaly	129285	PPP1R21	OMIM:619383
HP:0002240	Hepatomegaly	51626	DYNC2LI1	OMIM:617088
HP:0002240	Hepatomegaly	5257	PHKB	OMIM:261750
HP:0002240	Hepatomegaly	5257	PHKB	ORPHA:79240
HP:0002240	Hepatomegaly	1604	CD55	OMIM:226300
HP:0002240	Hepatomegaly	146059	CDAN1	OMIM:224120
HP:0002240	Hepatomegaly	9652	SKIC3	ORPHA:84064
HP:0002240	Hepatomegaly	9652	SKIC3	OMIM:222470
HP:0002240	Hepatomegaly	6499	SKIC2	ORPHA:84064
HP:0002240	Hepatomegaly	6499	SKIC2	OMIM:614602
HP:0002240	Hepatomegaly	10535	RNASEH2A	OMIM:610333
HP:0002240	Hepatomegaly	5696	PSMB8	OMIM:256040
HP:0002240	Hepatomegaly	4669	NAGLU	OMIM:252920
HP:0002240	Hepatomegaly	26276	VPS33B	OMIM:620010
HP:0002240	Hepatomegaly	27183	VPS4A	OMIM:619273
HP:0002240	Hepatomegaly	355	FAS	ORPHA:3261
HP:0002240	Hepatomegaly	355	FAS	OMIM:601859
HP:0002240	Hepatomegaly	356	FASLG	ORPHA:3261
HP:0002240	Hepatomegaly	356	FASLG	OMIM:601859
HP:0002240	Hepatomegaly	5580	PRKCD	ORPHA:3261
HP:0002240	Hepatomegaly	5580	PRKCD	OMIM:615559
HP:0002240	Hepatomegaly	843	CASP10	ORPHA:3261
HP:0002240	Hepatomegaly	843	CASP10	OMIM:603909
HP:0002240	Hepatomegaly	10125	RASGRP1	ORPHA:3261
HP:0002240	Hepatomegaly	144811	LACC1	ORPHA:85414
HP:0002240	Hepatomegaly	4282	MIF	ORPHA:85414
HP:0002240	Hepatomegaly	3569	IL6	ORPHA:85414
HP:0002240	Hepatomegaly	6309	SC5D	ORPHA:46059
HP:0002240	Hepatomegaly	4574	MT-TS1	OMIM:220110
HP:0002240	Hepatomegaly	4570	MT-TN	OMIM:220110
HP:0002240	Hepatomegaly	6834	SURF1	OMIM:220110
HP:0002240	Hepatomegaly	55532	SLC30A10	ORPHA:309854
HP:0002240	Hepatomegaly	55532	SLC30A10	OMIM:613280
HP:0002240	Hepatomegaly	83700	JAM3	OMIM:613730
HP:0002240	Hepatomegaly	57539	WDR35	OMIM:613610
HP:0002240	Hepatomegaly	171023	ASXL1	ORPHA:98849
HP:0002240	Hepatomegaly	3815	KIT	ORPHA:98849
HP:0002240	Hepatomegaly	6427	SRSF2	ORPHA:98849
HP:0002240	Hepatomegaly	4352	MPL	ORPHA:824
HP:0002240	Hepatomegaly	4352	MPL	ORPHA:729
HP:0002240	Hepatomegaly	7518	XRCC4	ORPHA:99812
HP:0002240	Hepatomegaly	8854	ALDH1A2	OMIM:620025
HP:0002240	Hepatomegaly	4758	NEU1	OMIM:256550
HP:0002240	Hepatomegaly	4758	NEU1	ORPHA:93399
HP:0002240	Hepatomegaly	4758	NEU1	ORPHA:93400
HP:0002240	Hepatomegaly	2038	EPB42	ORPHA:822
HP:0002240	Hepatomegaly	6521	SLC4A1	ORPHA:822
HP:0002240	Hepatomegaly	6710	SPTB	ORPHA:822
HP:0002240	Hepatomegaly	6708	SPTA1	ORPHA:822
HP:0002240	Hepatomegaly	286	ANK1	ORPHA:822
HP:0002240	Hepatomegaly	54968	TMEM70	ORPHA:1194
HP:0002240	Hepatomegaly	6341	SCO1	OMIM:619048
HP:0002240	Hepatomegaly	2130	EWSR1	ORPHA:83469
HP:0002240	Hepatomegaly	7490	WT1	ORPHA:83469
HP:0002240	Hepatomegaly	6392	SDHD	OMIM:619167
HP:0002240	Hepatomegaly	79947	DHDDS	OMIM:613861
HP:0002240	Hepatomegaly	55788	LMBRD1	OMIM:277380
HP:0002240	Hepatomegaly	10225	CD96	OMIM:211750
HP:0002240	Hepatomegaly	30061	SLC40A1	OMIM:606069
HP:0002240	Hepatomegaly	79631	EFL1	ORPHA:811
HP:0002240	Hepatomegaly	79631	EFL1	OMIM:617941
HP:0002240	Hepatomegaly	7535	ZAP70	OMIM:269840
HP:0002240	Hepatomegaly	84987	COX14	OMIM:619053
HP:0002240	Hepatomegaly	6005	RHAG	OMIM:185000
HP:0002240	Hepatomegaly	1738	DLD	ORPHA:2394
HP:0002240	Hepatomegaly	1738	DLD	OMIM:246900
HP:0002240	Hepatomegaly	8647	ABCB11	OMIM:601847
HP:0002240	Hepatomegaly	8647	ABCB11	OMIM:605479
HP:0002240	Hepatomegaly	5699	PSMB10	OMIM:619175
HP:0002240	Hepatomegaly	2538	G6PC1	OMIM:232200
HP:0002240	Hepatomegaly	92579	G6PC3	OMIM:612541
HP:0002240	Hepatomegaly	9927	MFN2	ORPHA:2398
HP:0002240	Hepatomegaly	686	BTD	OMIM:253260
HP:0002240	Hepatomegaly	8792	TNFRSF11A	OMIM:612301
HP:0002240	Hepatomegaly	7132	TNFRSF1A	OMIM:142680
HP:0002240	Hepatomegaly	208	AKT2	ORPHA:79085
HP:0002240	Hepatomegaly	55858	TMEM165	OMIM:614727
HP:0002240	Hepatomegaly	7840	ALMS1	OMIM:203800
HP:0002240	Hepatomegaly	7840	ALMS1	ORPHA:64
HP:0002240	Hepatomegaly	8546	AP3B1	OMIM:608233
HP:0002240	Hepatomegaly	5313	PKLR	OMIM:266200
HP:0002240	Hepatomegaly	56984	PSMG2	OMIM:619183
HP:0002240	Hepatomegaly	1717	DHCR7	OMIM:270400
HP:0002240	Hepatomegaly	23116	TOGARAM1	OMIM:619185
HP:0002240	Hepatomegaly	9377	COX5A	OMIM:619064
HP:0002240	Hepatomegaly	4591	TRIM37	OMIM:253250
HP:0002240	Hepatomegaly	4591	TRIM37	ORPHA:2576
HP:0002240	Hepatomegaly	23230	VPS13A	ORPHA:2388
HP:0002240	Hepatomegaly	63894	VIPAS39	OMIM:613404
HP:0002240	Hepatomegaly	79053	ALG8	OMIM:608104
HP:0002240	Hepatomegaly	526	ATP6V1B2	ORPHA:3473
HP:0002240	Hepatomegaly	3782	KCNN3	ORPHA:3473
HP:0002240	Hepatomegaly	3425	IDUA	OMIM:607014
HP:0002240	Hepatomegaly	3425	IDUA	OMIM:607015
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93474
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93473
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93476
HP:0002240	Hepatomegaly	175	AGA	ORPHA:93
HP:0002240	Hepatomegaly	175	AGA	OMIM:208400
HP:0002240	Hepatomegaly	4853	NOTCH2	ORPHA:955
HP:0002240	Hepatomegaly	374393	FAM111B	OMIM:615704
HP:0002240	Hepatomegaly	338328	GPIHBP1	OMIM:615947
HP:0002240	Hepatomegaly	4069	LYZ	OMIM:105200
HP:0002240	Hepatomegaly	2243	FGA	OMIM:105200
HP:0002240	Hepatomegaly	335	APOA1	OMIM:105200
HP:0002240	Hepatomegaly	567	B2M	OMIM:105200
HP:0002240	Hepatomegaly	1798	DPAGT1	ORPHA:86309
HP:0002240	Hepatomegaly	5091	PC	OMIM:266150
HP:0002240	Hepatomegaly	4607	MYBPC3	OMIM:115197
HP:0002240	Hepatomegaly	51660	MPC1	OMIM:614741
HP:0002240	Hepatomegaly	3991	LIPE	ORPHA:435660
HP:0002240	Hepatomegaly	4519	MT-CYB	ORPHA:137675
HP:0002240	Hepatomegaly	5265	SERPINA1	ORPHA:60
HP:0002240	Hepatomegaly	5428	POLG	OMIM:203700
HP:0002240	Hepatomegaly	23600	AMACR	OMIM:214950
HP:0002240	Hepatomegaly	9719	ADAMTSL2	OMIM:231050
HP:0002240	Hepatomegaly	91147	TMEM67	OMIM:607361
HP:0002240	Hepatomegaly	91147	TMEM67	OMIM:216360
HP:0002240	Hepatomegaly	91147	TMEM67	ORPHA:1454
HP:0002240	Hepatomegaly	6609	SMPD1	OMIM:257200
HP:0002240	Hepatomegaly	6609	SMPD1	ORPHA:77293
HP:0002240	Hepatomegaly	6609	SMPD1	OMIM:607616
HP:0002240	Hepatomegaly	2624	GATA2	ORPHA:3226
HP:0002240	Hepatomegaly	2548	GAA	ORPHA:308552
HP:0002240	Hepatomegaly	2548	GAA	OMIM:232300
HP:0002240	Hepatomegaly	6288	SAA1	ORPHA:85445
HP:0002240	Hepatomegaly	64135	IFIH1	OMIM:615846
HP:0002240	Hepatomegaly	10165	SLC25A13	ORPHA:247598
HP:0002240	Hepatomegaly	10165	SLC25A13	ORPHA:247585
HP:0002240	Hepatomegaly	3662	IRF4	ORPHA:3452
HP:0002240	Hepatomegaly	388015	RTL1	ORPHA:96334
HP:0002240	Hepatomegaly	8788	DLK1	ORPHA:96334
HP:0002240	Hepatomegaly	55384	MEG3	ORPHA:96334
HP:0002240	Hepatomegaly	3911	LAMA5	OMIM:620076
HP:0002240	Hepatomegaly	55343	SLC35C1	ORPHA:99843
HP:0002240	Hepatomegaly	8314	BAP1	ORPHA:50251
HP:0002240	Hepatomegaly	1028	CDKN1C	OMIM:130650
HP:0002240	Hepatomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0002240	Hepatomegaly	3481	IGF2	OMIM:130650
HP:0002240	Hepatomegaly	3784	KCNQ1	OMIM:130650
HP:0002240	Hepatomegaly	162417	NAGS	ORPHA:927
HP:0002240	Hepatomegaly	57817	HAMP	OMIM:613313
HP:0002240	Hepatomegaly	445	ASS1	OMIM:215700
HP:0002240	Hepatomegaly	84317	CCDC115	OMIM:616828
HP:0002240	Hepatomegaly	28962	OSTM1	OMIM:259720
HP:0002240	Hepatomegaly	10568	SLC34A2	ORPHA:60025
HP:0002240	Hepatomegaly	51067	YARS2	OMIM:613561
HP:0002240	Hepatomegaly	93183	PIGM	OMIM:610293
HP:0002240	Hepatomegaly	7351	UCP2	ORPHA:276556
HP:0002240	Hepatomegaly	57410	SCYL1	OMIM:616719
HP:0002240	Hepatomegaly	6888	TALDO1	OMIM:606003
HP:0002240	Hepatomegaly	56052	ALG1	OMIM:608540
HP:0002240	Hepatomegaly	4054	LTBP3	OMIM:617809
HP:0002240	Hepatomegaly	10159	ATP6AP2	OMIM:301045
HP:0002240	Hepatomegaly	26160	IFT172	OMIM:615630
HP:0002240	Hepatomegaly	84529	CDIN1	OMIM:615631
HP:0002240	Hepatomegaly	11133	KPTN	OMIM:615637
HP:0002240	Hepatomegaly	6948	TCN2	OMIM:275350
HP:0002240	Hepatomegaly	5156	PDGFRA	OMIM:607685
HP:0002240	Hepatomegaly	1776	DNASE1L3	ORPHA:36412
HP:0002240	Hepatomegaly	9780	PIEZO1	OMIM:194380
HP:0002240	Hepatomegaly	4173	MCM4	OMIM:609981
HP:0002240	Hepatomegaly	411	ARSB	OMIM:253200
HP:0002240	Hepatomegaly	55593	OTUD5	OMIM:301056
HP:0002240	Hepatomegaly	3074	HEXB	OMIM:268800
HP:0002240	Hepatomegaly	549	AUH	ORPHA:67046
HP:0002240	Hepatomegaly	10525	HYOU1	OMIM:233600
HP:0002240	Hepatomegaly	4792	NFKBIA	OMIM:612132
HP:0002240	Hepatomegaly	169792	GLIS3	OMIM:610199
HP:0002240	Hepatomegaly	6513	SLC2A1	OMIM:608885
HP:0002240	Hepatomegaly	9076	CLDN1	ORPHA:59303
HP:0002240	Hepatomegaly	9076	CLDN1	OMIM:607626
HP:0002240	Hepatomegaly	6833	ABCC8	ORPHA:276575
HP:0002240	Hepatomegaly	3767	KCNJ11	ORPHA:276580
HP:0002240	Hepatomegaly	7547	ZIC3	OMIM:306955
HP:0002240	Hepatomegaly	9663	LPIN2	ORPHA:77297
HP:0002240	Hepatomegaly	51218	GLRX5	OMIM:616860
HP:0002240	Hepatomegaly	6097	RORC	OMIM:616622
HP:0002240	Hepatomegaly	26007	TKFC	OMIM:618805
HP:0002240	Hepatomegaly	4358	MPV17	OMIM:256810
HP:0002240	Hepatomegaly	10616	RBCK1	OMIM:615895
HP:0002240	Hepatomegaly	6663	SOX10	ORPHA:163746
HP:0002240	Hepatomegaly	708	C1QBP	OMIM:617713
HP:0002240	Hepatomegaly	284086	NEK8	OMIM:615415
HP:0002240	Hepatomegaly	3431	SP110	ORPHA:79124
HP:0002240	Hepatomegaly	3248	HPGD	ORPHA:2796
HP:0002240	Hepatomegaly	6578	SLCO2A1	ORPHA:2796
HP:0002240	Hepatomegaly	55764	IFT122	OMIM:218330
HP:0002240	Hepatomegaly	91647	ATPAF2	OMIM:604273
HP:0002240	Hepatomegaly	84061	MAGT1	OMIM:301031
HP:0002240	Hepatomegaly	57511	COG6	OMIM:614576
HP:0002240	Hepatomegaly	427	ASAH1	OMIM:228000
HP:0002240	Hepatomegaly	56623	INPP5E	ORPHA:1454
HP:0002240	Hepatomegaly	23322	RPGRIP1L	ORPHA:1454
HP:0002240	Hepatomegaly	57545	CC2D2A	ORPHA:1454
HP:0002240	Hepatomegaly	55210	ATAD3A	OMIM:618810
HP:0002240	Hepatomegaly	25839	COG4	OMIM:613489
HP:0002240	Hepatomegaly	326625	MMAB	OMIM:251110
HP:0002240	Hepatomegaly	5873	RAB27A	ORPHA:79477
HP:0002240	Hepatomegaly	760	CA2	ORPHA:2785
HP:0002240	Hepatomegaly	2584	GALK1	ORPHA:79237
HP:0002240	Hepatomegaly	9997	SCO2	OMIM:604377
HP:0002240	Hepatomegaly	10367	MICU1	OMIM:615673
HP:0002240	Hepatomegaly	3702	ITK	OMIM:613011
HP:0002240	Hepatomegaly	11222	MRPL3	OMIM:614582
HP:0002240	Hepatomegaly	2588	GALNS	OMIM:253000
HP:0002240	Hepatomegaly	975	CD81	OMIM:613496
HP:0002240	Hepatomegaly	51520	LARS1	OMIM:615438
HP:0002240	Hepatomegaly	5205	ATP8B1	OMIM:211600
HP:0002240	Hepatomegaly	5205	ATP8B1	OMIM:243300
HP:0002240	Hepatomegaly	2065	ERBB3	OMIM:133180
HP:0002240	Hepatomegaly	26047	CNTNAP2	ORPHA:163681
HP:0002240	Hepatomegaly	200894	ARL13B	OMIM:612291
HP:0002240	Hepatomegaly	27031	NPHP3	OMIM:208540
HP:0002240	Hepatomegaly	100151683	RNU4ATAC	OMIM:616651
HP:0002240	Hepatomegaly	83737	ITCH	OMIM:613385
HP:0002240	Hepatomegaly	51816	ADA2	OMIM:615688
HP:0002240	Hepatomegaly	28957	MRPS28	OMIM:618958
HP:0002240	Hepatomegaly	3931	LCAT	ORPHA:79292
HP:0002240	Hepatomegaly	100506658	OCLN	OMIM:251290
HP:0002240	Hepatomegaly	27232	GNMT	OMIM:606664
HP:0002240	Hepatomegaly	10577	NPC2	OMIM:607625
HP:0002240	Hepatomegaly	2819	GPD1	OMIM:614480
HP:0002240	Hepatomegaly	51081	MRPS7	OMIM:617872
HP:0002240	Hepatomegaly	26503	SLC17A5	OMIM:269920
HP:0002240	Hepatomegaly	178	AGL	OMIM:232400
HP:0002240	Hepatomegaly	2990	GUSB	OMIM:253220
HP:0002240	Hepatomegaly	4668	NAGA	ORPHA:79281
HP:0002240	Hepatomegaly	4668	NAGA	ORPHA:79279
HP:0002240	Hepatomegaly	2639	GCDH	OMIM:231670
HP:0002240	Hepatomegaly	8737	RIPK1	OMIM:618852
HP:0002240	Hepatomegaly	80169	CTC1	ORPHA:1775
HP:0002240	Hepatomegaly	26277	TINF2	ORPHA:1775
HP:0002240	Hepatomegaly	55651	NHP2	ORPHA:1775
HP:0002240	Hepatomegaly	79650	USB1	ORPHA:1775
HP:0002240	Hepatomegaly	55135	WRAP53	ORPHA:1775
HP:0002240	Hepatomegaly	51750	RTEL1	ORPHA:1775
HP:0002240	Hepatomegaly	4869	NPM1	ORPHA:1775
HP:0002240	Hepatomegaly	7012	TERC	ORPHA:1775
HP:0002240	Hepatomegaly	55505	NOP10	ORPHA:1775
HP:0002240	Hepatomegaly	5073	PARN	ORPHA:1775
HP:0002240	Hepatomegaly	7015	TERT	ORPHA:1775
HP:0002240	Hepatomegaly	1736	DKC1	ORPHA:1775
HP:0002240	Hepatomegaly	7298	TYMS	ORPHA:1775
HP:0002240	Hepatomegaly	57728	WDR19	OMIM:614376
HP:0002240	Hepatomegaly	3636	INPPL1	ORPHA:2746
HP:0002240	Hepatomegaly	1794	DOCK2	OMIM:616433
HP:0002240	Hepatomegaly	2108	ETFA	OMIM:231680
HP:0002240	Hepatomegaly	2109	ETFB	OMIM:231680
HP:0002240	Hepatomegaly	2110	ETFDH	OMIM:231680
HP:0002240	Hepatomegaly	2582	GALE	OMIM:230350
HP:0002242	Abnormal intestine morphology	9361	LONP1	OMIM:600373
HP:0002242	Abnormal intestine morphology	92002	CCNQ	OMIM:300707
HP:0002242	Abnormal intestine morphology	10653	SPINT2	OMIM:270420
HP:0002242	Abnormal intestine morphology	84172	POLR1B	ORPHA:861
HP:0002242	Abnormal intestine morphology	9533	POLR1C	ORPHA:861
HP:0002242	Abnormal intestine morphology	51082	POLR1D	ORPHA:861
HP:0002242	Abnormal intestine morphology	6949	TCOF1	ORPHA:861
HP:0002242	Abnormal intestine morphology	374654	KIF7	OMIM:200990
HP:0002242	Abnormal intestine morphology	1642	DDB1	OMIM:619426
HP:0002242	Abnormal intestine morphology	158326	FREM1	OMIM:608980
HP:0002242	Abnormal intestine morphology	171023	ASXL1	ORPHA:98850
HP:0002242	Abnormal intestine morphology	54790	TET2	ORPHA:98850
HP:0002242	Abnormal intestine morphology	867	CBL	ORPHA:98850
HP:0002242	Abnormal intestine morphology	861	RUNX1	ORPHA:98850
HP:0002242	Abnormal intestine morphology	6427	SRSF2	ORPHA:98850
HP:0002242	Abnormal intestine morphology	118429	ANTXR2	ORPHA:2176
HP:0002242	Abnormal intestine morphology	7518	XRCC4	ORPHA:99812
HP:0002242	Abnormal intestine morphology	3981	LIG4	ORPHA:99812
HP:0002242	Abnormal intestine morphology	3981	LIG4	ORPHA:235
HP:0002242	Abnormal intestine morphology	80270	HSD3B7	ORPHA:79301
HP:0002242	Abnormal intestine morphology	2316	FLNA	ORPHA:99811
HP:0002242	Abnormal intestine morphology	4072	EPCAM	ORPHA:144
HP:0002242	Abnormal intestine morphology	4072	EPCAM	ORPHA:92050
HP:0002242	Abnormal intestine morphology	4292	MLH1	ORPHA:144
HP:0002242	Abnormal intestine morphology	5395	PMS2	ORPHA:144
HP:0002242	Abnormal intestine morphology	27030	MLH3	ORPHA:144
HP:0002242	Abnormal intestine morphology	22909	FAN1	ORPHA:144
HP:0002242	Abnormal intestine morphology	7048	TGFBR2	ORPHA:144
HP:0002242	Abnormal intestine morphology	3845	KRAS	ORPHA:144
HP:0002242	Abnormal intestine morphology	5290	PIK3CA	ORPHA:144
HP:0002242	Abnormal intestine morphology	2956	MSH6	ORPHA:144
HP:0002242	Abnormal intestine morphology	5378	PMS1	ORPHA:144
HP:0002242	Abnormal intestine morphology	4436	MSH2	ORPHA:144
HP:0002242	Abnormal intestine morphology	55630	SLC39A4	ORPHA:37
HP:0002242	Abnormal intestine morphology	197131	UBR1	OMIM:243800
HP:0002242	Abnormal intestine morphology	197131	UBR1	ORPHA:2315
HP:0002242	Abnormal intestine morphology	6514	SLC2A2	OMIM:227810
HP:0002242	Abnormal intestine morphology	50674	NEUROG3	ORPHA:83620
HP:0002242	Abnormal intestine morphology	64218	SEMA4A	ORPHA:440437
HP:0002242	Abnormal intestine morphology	657	BMPR1A	ORPHA:440437
HP:0002242	Abnormal intestine morphology	6224	RPS20	ORPHA:440437
HP:0002242	Abnormal intestine morphology	10525	HYOU1	OMIM:233600
HP:0002242	Abnormal intestine morphology	4952	OCRL	ORPHA:534
HP:0002242	Abnormal intestine morphology	1536	CYBB	ORPHA:379
HP:0002242	Abnormal intestine morphology	4688	NCF2	ORPHA:379
HP:0002242	Abnormal intestine morphology	1535	CYBA	ORPHA:379
HP:0002242	Abnormal intestine morphology	4689	NCF4	ORPHA:379
HP:0002242	Abnormal intestine morphology	653361	NCF1	ORPHA:379
HP:0002242	Abnormal intestine morphology	653361	NCF1	ORPHA:904
HP:0002242	Abnormal intestine morphology	79415	CYBC1	ORPHA:379
HP:0002242	Abnormal intestine morphology	170302	ARX	ORPHA:452
HP:0002242	Abnormal intestine morphology	105371045	PERCC1	ORPHA:92050
HP:0002242	Abnormal intestine morphology	9663	LPIN2	ORPHA:77297
HP:0002242	Abnormal intestine morphology	6023	RMRP	ORPHA:175
HP:0002242	Abnormal intestine morphology	6023	RMRP	OMIM:250250
HP:0002242	Abnormal intestine morphology	9401	RECQL4	ORPHA:1225
HP:0002242	Abnormal intestine morphology	2717	GLA	ORPHA:324
HP:0002242	Abnormal intestine morphology	3248	HPGD	ORPHA:2796
HP:0002242	Abnormal intestine morphology	6578	SLCO2A1	ORPHA:2796
HP:0002242	Abnormal intestine morphology	538	ATP7A	ORPHA:565
HP:0002242	Abnormal intestine morphology	2068	ERCC2	OMIM:601675
HP:0002242	Abnormal intestine morphology	3070	HELLS	ORPHA:2268
HP:0002242	Abnormal intestine morphology	1789	DNMT3B	ORPHA:2268
HP:0002242	Abnormal intestine morphology	1789	DNMT3B	OMIM:242860
HP:0002242	Abnormal intestine morphology	83879	CDCA7	ORPHA:2268
HP:0002242	Abnormal intestine morphology	9841	ZBTB24	ORPHA:2268
HP:0002242	Abnormal intestine morphology	113235	SLC46A1	OMIM:229050
HP:0002242	Abnormal intestine morphology	175	AGA	ORPHA:93
HP:0002242	Abnormal intestine morphology	54888	NSUN2	ORPHA:235
HP:0002242	Abnormal intestine morphology	1499	CTNNB1	ORPHA:873
HP:0002242	Abnormal intestine morphology	324	APC	ORPHA:873
HP:0002242	Abnormal intestine morphology	30011	SH3KBP1	OMIM:300310
HP:0002242	Abnormal intestine morphology	4261	CIITA	OMIM:209920
HP:0002242	Abnormal intestine morphology	5994	RFXAP	OMIM:209920
HP:0002242	Abnormal intestine morphology	5993	RFX5	OMIM:209920
HP:0002242	Abnormal intestine morphology	8625	RFXANK	OMIM:209920
HP:0002242	Abnormal intestine morphology	222546	RFX6	OMIM:615710
HP:0002242	Abnormal intestine morphology	9508	ADAMTS3	ORPHA:2136
HP:0002242	Abnormal intestine morphology	147372	CCBE1	ORPHA:2136
HP:0002242	Abnormal intestine morphology	79633	FAT4	ORPHA:2136
HP:0002242	Abnormal intestine morphology	6804	STX1A	ORPHA:904
HP:0002242	Abnormal intestine morphology	6804	STX1A	ORPHA:586
HP:0002242	Abnormal intestine morphology	7461	CLIP2	ORPHA:904
HP:0002242	Abnormal intestine morphology	84277	DNAJC30	ORPHA:904
HP:0002242	Abnormal intestine morphology	8468	FKBP6	ORPHA:904
HP:0002242	Abnormal intestine morphology	5982	RFC2	ORPHA:904
HP:0002242	Abnormal intestine morphology	2969	GTF2I	ORPHA:904
HP:0002242	Abnormal intestine morphology	3984	LIMK1	ORPHA:904
HP:0002242	Abnormal intestine morphology	9569	GTF2IRD1	ORPHA:904
HP:0002242	Abnormal intestine morphology	155382	VPS37D	ORPHA:904
HP:0002242	Abnormal intestine morphology	155368	METTL27	ORPHA:904
HP:0002242	Abnormal intestine morphology	114049	BUD23	ORPHA:904
HP:0002242	Abnormal intestine morphology	7458	EIF4H	ORPHA:904
HP:0002242	Abnormal intestine morphology	84163	GTF2IRD2	ORPHA:904
HP:0002242	Abnormal intestine morphology	9275	BCL7B	ORPHA:904
HP:0002242	Abnormal intestine morphology	26608	TBL2	ORPHA:904
HP:0002242	Abnormal intestine morphology	135886	TMEM270	ORPHA:904
HP:0002242	Abnormal intestine morphology	51085	MLXIPL	ORPHA:904
HP:0002242	Abnormal intestine morphology	9031	BAZ1B	ORPHA:904
HP:0002242	Abnormal intestine morphology	2006	ELN	ORPHA:904
HP:0002242	Abnormal intestine morphology	1890	TYMP	OMIM:603041
HP:0002242	Abnormal intestine morphology	5428	POLG	OMIM:603041
HP:0002242	Abnormal intestine morphology	5428	POLG	OMIM:613662
HP:0002242	Abnormal intestine morphology	493856	CISD2	ORPHA:3463
HP:0002242	Abnormal intestine morphology	7466	WFS1	ORPHA:3463
HP:0002242	Abnormal intestine morphology	4567	MT-TL1	ORPHA:225
HP:0002242	Abnormal intestine morphology	4556	MT-TE	ORPHA:225
HP:0002242	Abnormal intestine morphology	4566	MT-TK	ORPHA:225
HP:0002242	Abnormal intestine morphology	6523	SLC5A1	OMIM:606824
HP:0002242	Abnormal intestine morphology	4210	MEFV	ORPHA:342
HP:0002242	Abnormal intestine morphology	4210	MEFV	ORPHA:117
HP:0002242	Abnormal intestine morphology	2947	GSTM3	ORPHA:586
HP:0002242	Abnormal intestine morphology	7040	TGFB1	ORPHA:586
HP:0002242	Abnormal intestine morphology	2729	GCLC	ORPHA:586
HP:0002242	Abnormal intestine morphology	1084	CEACAM3	ORPHA:586
HP:0002242	Abnormal intestine morphology	6556	SLC11A1	ORPHA:586
HP:0002242	Abnormal intestine morphology	51164	DCTN4	ORPHA:586
HP:0002242	Abnormal intestine morphology	3783	KCNN4	ORPHA:586
HP:0002242	Abnormal intestine morphology	4282	MIF	ORPHA:586
HP:0002242	Abnormal intestine morphology	1909	EDNRA	ORPHA:586
HP:0002242	Abnormal intestine morphology	6550	SLC9A3	ORPHA:586
HP:0002242	Abnormal intestine morphology	3162	HMOX1	ORPHA:586
HP:0002242	Abnormal intestine morphology	115019	SLC26A9	ORPHA:586
HP:0002242	Abnormal intestine morphology	3077	HFE	ORPHA:586
HP:0002242	Abnormal intestine morphology	11254	SLC6A14	ORPHA:586
HP:0002242	Abnormal intestine morphology	5265	SERPINA1	ORPHA:586
HP:0002242	Abnormal intestine morphology	1080	CFTR	ORPHA:586
HP:0002242	Abnormal intestine morphology	22802	CLCA4	ORPHA:586
HP:0002242	Abnormal intestine morphology	4680	CEACAM6	ORPHA:586
HP:0002242	Abnormal intestine morphology	5244	ABCB4	OMIM:602347
HP:0002242	Abnormal intestine morphology	8567	MADD	OMIM:619004
HP:0002242	Abnormal intestine morphology	6288	SAA1	ORPHA:85445
HP:0002242	Abnormal intestine morphology	57570	TRMT5	OMIM:616539
HP:0002242	Abnormal intestine morphology	3662	IRF4	ORPHA:3452
HP:0002242	Abnormal intestine morphology	695	BTK	ORPHA:47
HP:0002242	Abnormal intestine morphology	811	CALR	ORPHA:131
HP:0002242	Abnormal intestine morphology	3717	JAK2	ORPHA:131
HP:0002242	Abnormal intestine morphology	2153	F5	ORPHA:131
HP:0002242	Abnormal intestine morphology	5122	PCSK1	OMIM:600955
HP:0002242	Abnormal intestine morphology	326	AIRE	OMIM:240300
HP:0002242	Abnormal intestine morphology	1758	DMP1	ORPHA:289176
HP:0002242	Abnormal intestine morphology	5167	ENPP1	ORPHA:289176
HP:0002242	Abnormal intestine morphology	340024	SLC6A19	ORPHA:2116
HP:0002242	Abnormal intestine morphology	57393	CLTRN	ORPHA:2116
HP:0002242	Abnormal intestine morphology	50943	FOXP3	ORPHA:37042
HP:0002242	Abnormal intestine morphology	11181	TREH	ORPHA:103909
HP:0002242	Abnormal intestine morphology	6476	SI	OMIM:222900
HP:0002242	Abnormal intestine morphology	4615	MYD88	ORPHA:33226
HP:0002242	Abnormal intestine morphology	1604	CD55	OMIM:226300
HP:0002242	Abnormal intestine morphology	80169	CTC1	ORPHA:1775
HP:0002242	Abnormal intestine morphology	26277	TINF2	ORPHA:1775
HP:0002242	Abnormal intestine morphology	55651	NHP2	ORPHA:1775
HP:0002242	Abnormal intestine morphology	79650	USB1	ORPHA:1775
HP:0002242	Abnormal intestine morphology	55135	WRAP53	ORPHA:1775
HP:0002242	Abnormal intestine morphology	51750	RTEL1	ORPHA:1775
HP:0002242	Abnormal intestine morphology	4869	NPM1	ORPHA:1775
HP:0002242	Abnormal intestine morphology	7012	TERC	ORPHA:1775
HP:0002242	Abnormal intestine morphology	55505	NOP10	ORPHA:1775
HP:0002242	Abnormal intestine morphology	5073	PARN	ORPHA:1775
HP:0002242	Abnormal intestine morphology	7015	TERT	ORPHA:1775
HP:0002242	Abnormal intestine morphology	1736	DKC1	ORPHA:1775
HP:0002242	Abnormal intestine morphology	7298	TYMS	ORPHA:1775
HP:0002242	Abnormal intestine morphology	55315	SLC29A3	ORPHA:168569
HP:0002242	Abnormal intestine morphology	1235	CCR6	ORPHA:220393
HP:0002242	Abnormal intestine morphology	1490	CCN2	ORPHA:220393
HP:0002242	Abnormal intestine morphology	3663	IRF5	ORPHA:220393
HP:0002242	Abnormal intestine morphology	857	CAV1	ORPHA:220393
HP:0002242	Abnormal intestine morphology	3123	HLA-DRB1	ORPHA:220393
HP:0002242	Abnormal intestine morphology	1828	DSG1	OMIM:615508
HP:0002242	Abnormal intestine morphology	55670	PEX26	ORPHA:912
HP:0002242	Abnormal intestine morphology	5824	PEX19	ORPHA:912
HP:0002242	Abnormal intestine morphology	5828	PEX2	ORPHA:912
HP:0002242	Abnormal intestine morphology	8504	PEX3	ORPHA:912
HP:0002242	Abnormal intestine morphology	8799	PEX11B	ORPHA:912
HP:0002242	Abnormal intestine morphology	9409	PEX16	ORPHA:912
HP:0002242	Abnormal intestine morphology	5190	PEX6	ORPHA:912
HP:0002242	Abnormal intestine morphology	5830	PEX5	ORPHA:912
HP:0002242	Abnormal intestine morphology	5189	PEX1	ORPHA:912
HP:0002242	Abnormal intestine morphology	5193	PEX12	ORPHA:912
HP:0002242	Abnormal intestine morphology	5194	PEX13	ORPHA:912
HP:0002242	Abnormal intestine morphology	5195	PEX14	ORPHA:912
HP:0002242	Abnormal intestine morphology	5192	PEX10	ORPHA:912
HP:0002242	Abnormal intestine morphology	204	AK2	ORPHA:33355
HP:0002242	Abnormal intestine morphology	6929	TCF3	ORPHA:33110
HP:0002242	Abnormal intestine morphology	973	CD79A	ORPHA:33110
HP:0002242	Abnormal intestine morphology	974	CD79B	ORPHA:33110
HP:0002242	Abnormal intestine morphology	3543	IGLL1	ORPHA:33110
HP:0002242	Abnormal intestine morphology	3507	IGHM	ORPHA:33110
HP:0002242	Abnormal intestine morphology	29760	BLNK	ORPHA:33110
HP:0002242	Abnormal intestine morphology	5295	PIK3R1	ORPHA:33110
HP:0002242	Abnormal intestine morphology	56262	LRRC8A	ORPHA:33110
HP:0002242	Abnormal intestine morphology	8085	KMT2D	OMIM:147920
HP:0002242	Abnormal intestine morphology	7403	KDM6A	OMIM:147920
HP:0002242	Abnormal intestine morphology	149233	IL23R	ORPHA:117
HP:0002242	Abnormal intestine morphology	6775	STAT4	ORPHA:117
HP:0002242	Abnormal intestine morphology	3586	IL10	ORPHA:117
HP:0002242	Abnormal intestine morphology	1230	CCR1	ORPHA:117
HP:0002242	Abnormal intestine morphology	355	FAS	ORPHA:117
HP:0002242	Abnormal intestine morphology	3592	IL12A	ORPHA:117
HP:0002242	Abnormal intestine morphology	101928376	IL12A-AS1	ORPHA:117
HP:0002242	Abnormal intestine morphology	3106	HLA-B	ORPHA:117
HP:0002242	Abnormal intestine morphology	7099	TLR4	ORPHA:117
HP:0002242	Abnormal intestine morphology	3459	IFNGR1	ORPHA:117
HP:0002242	Abnormal intestine morphology	720	C4A	ORPHA:117
HP:0002242	Abnormal intestine morphology	337867	UBAC2	ORPHA:117
HP:0002242	Abnormal intestine morphology	51752	ERAP1	ORPHA:117
HP:0002242	Abnormal intestine morphology	8302	KLRC4	ORPHA:117
HP:0002242	Abnormal intestine morphology	11005	SPINK5	ORPHA:634
HP:0002242	Abnormal intestine morphology	55650	PIGV	OMIM:239300
HP:0002242	Abnormal intestine morphology	1277	COL1A1	ORPHA:287
HP:0002242	Abnormal intestine morphology	1289	COL5A1	ORPHA:287
HP:0002242	Abnormal intestine morphology	1290	COL5A2	ORPHA:287
HP:0002242	Abnormal intestine morphology	6197	RPS6KA3	OMIM:303600
HP:0002242	Abnormal intestine morphology	4629	MYH11	OMIM:619350
HP:0002242	Abnormal intestine morphology	2212	FCGR2A	OMIM:219700
HP:0002242	Abnormal intestine morphology	8260	NAA10	OMIM:309800
HP:0002242	Abnormal intestine morphology	54880	BCOR	OMIM:309800
HP:0002242	Abnormal intestine morphology	4089	SMAD4	OMIM:174900
HP:0002242	Abnormal intestine morphology	54496	PRMT7	OMIM:617157
HP:0002242	Abnormal intestine morphology	4000	LMNA	OMIM:619793
HP:0002242	Abnormal intestine morphology	8425	LTBP4	OMIM:613177
HP:0002242	Abnormal intestine morphology	6794	STK11	ORPHA:2869
HP:0002242	Abnormal intestine morphology	6794	STK11	OMIM:175200
HP:0002242	Abnormal intestine morphology	5728	PTEN	ORPHA:79076
HP:0002242	Abnormal intestine morphology	2165	F13B	ORPHA:331
HP:0002242	Abnormal intestine morphology	2162	F13A1	ORPHA:331
HP:0002242	Abnormal intestine morphology	7454	WAS	OMIM:301000
HP:0002242	Abnormal intestine morphology	7454	WAS	ORPHA:906
HP:0002242	Abnormal intestine morphology	55612	FERMT1	ORPHA:2908
HP:0002242	Abnormal intestine morphology	331	XIAP	OMIM:300635
HP:0002242	Abnormal intestine morphology	10616	RBCK1	OMIM:615895
HP:0002242	Abnormal intestine morphology	5243	ABCB1	OMIM:612244
HP:0002242	Abnormal intestine morphology	3257	HPS1	OMIM:203300
HP:0002242	Abnormal intestine morphology	987	LRBA	OMIM:614700
HP:0002242	Abnormal intestine morphology	7456	WIPF1	ORPHA:906
HP:0002242	Abnormal intestine morphology	8737	RIPK1	OMIM:618108
HP:0002242	Abnormal intestine morphology	10095	ARPC1B	OMIM:617718
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	OMIM:232220
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	OMIM:232240
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	ORPHA:79259
HP:0002242	Abnormal intestine morphology	5293	PIK3CD	OMIM:619281
HP:0002242	Abnormal intestine morphology	2000	ELF4	OMIM:301074
HP:0002242	Abnormal intestine morphology	64127	NOD2	OMIM:266600
HP:0002242	Abnormal intestine morphology	3569	IL6	OMIM:266600
HP:0002242	Abnormal intestine morphology	57511	COG6	OMIM:614576
HP:0002242	Abnormal intestine morphology	345611	IRGM	OMIM:612278
HP:0002242	Abnormal intestine morphology	59067	IL21	OMIM:615767
HP:0002242	Abnormal intestine morphology	64858	DCLRE1B	OMIM:620133
HP:0002242	Abnormal intestine morphology	5297	PI4KA	OMIM:619708
HP:0002242	Abnormal intestine morphology	4854	NOTCH3	ORPHA:2591
HP:0002242	Abnormal intestine morphology	5159	PDGFRB	ORPHA:2591
HP:0002242	Abnormal intestine morphology	164656	TMPRSS6	ORPHA:209981
HP:0002242	Abnormal intestine morphology	6774	STAT3	OMIM:615952
HP:0002242	Abnormal intestine morphology	8516	ITGA8	ORPHA:1848
HP:0002242	Abnormal intestine morphology	26281	FGF20	ORPHA:1848
HP:0002242	Abnormal intestine morphology	2674	GFRA1	ORPHA:1848
HP:0002242	Abnormal intestine morphology	7484	WNT9B	ORPHA:1848
HP:0002242	Abnormal intestine morphology	80000	GREB1L	ORPHA:1848
HP:0002242	Abnormal intestine morphology	5590	PRKCZ	ORPHA:1606
HP:0002242	Abnormal intestine morphology	2563	GABRD	ORPHA:1606
HP:0002242	Abnormal intestine morphology	23013	SPEN	ORPHA:1606
HP:0002242	Abnormal intestine morphology	8510	MMP23B	ORPHA:1606
HP:0002242	Abnormal intestine morphology	7798	LUZP1	ORPHA:1606
HP:0002242	Abnormal intestine morphology	6497	SKI	ORPHA:1606
HP:0002242	Abnormal intestine morphology	10630	PDPN	ORPHA:1606
HP:0002242	Abnormal intestine morphology	3339	HSPG2	ORPHA:1606
HP:0002242	Abnormal intestine morphology	10277	UBE4B	ORPHA:1606
HP:0002242	Abnormal intestine morphology	8514	KCNAB2	ORPHA:1606
HP:0002242	Abnormal intestine morphology	473	RERE	ORPHA:1606
HP:0002242	Abnormal intestine morphology	63976	PRDM16	ORPHA:1606
HP:0002242	Abnormal intestine morphology	54897	CASZ1	ORPHA:1606
HP:0002242	Abnormal intestine morphology	83737	ITCH	ORPHA:228426
HP:0002242	Abnormal intestine morphology	1281	COL3A1	ORPHA:286
HP:0002242	Abnormal intestine morphology	162	AP1B1	ORPHA:171851
HP:0002242	Abnormal intestine morphology	50485	SMARCAL1	ORPHA:1830
HP:0002242	Abnormal intestine morphology	917	CD3G	OMIM:615607
HP:0002242	Abnormal intestine morphology	4645	MYO5B	OMIM:251850
HP:0002242	Abnormal intestine morphology	1908	EDN3	ORPHA:897
HP:0002242	Abnormal intestine morphology	4286	MITF	ORPHA:897
HP:0002242	Abnormal intestine morphology	1910	EDNRB	ORPHA:897
HP:0002242	Abnormal intestine morphology	83483	PLVAP	OMIM:618183
HP:0002242	Abnormal intestine morphology	4351	MPI	ORPHA:79319
HP:0002242	Abnormal intestine morphology	4351	MPI	OMIM:602579
HP:0002242	Abnormal intestine morphology	6772	STAT1	OMIM:614162
HP:0002242	Abnormal intestine morphology	54914	FOCAD	OMIM:619991
HP:0002242	Abnormal intestine morphology	5286	PIK3C2A	OMIM:618440
HP:0002242	Abnormal intestine morphology	22900	CARD8	OMIM:619079
HP:0002242	Abnormal intestine morphology	29929	ALG6	ORPHA:79320
HP:0002242	Abnormal intestine morphology	56052	ALG1	ORPHA:79327
HP:0002242	Abnormal intestine morphology	100303755	PET117	OMIM:619063
HP:0002242	Abnormal intestine morphology	8694	DGAT1	OMIM:615863
HP:0002242	Abnormal intestine morphology	84342	COG8	ORPHA:95428
HP:0002242	Abnormal intestine morphology	79053	ALG8	OMIM:608104
HP:0002242	Abnormal intestine morphology	199221	DZIP1L	ORPHA:731
HP:0002242	Abnormal intestine morphology	5314	PKHD1	ORPHA:731
HP:0002242	Abnormal intestine morphology	7852	CXCR4	ORPHA:51636
HP:0002242	Abnormal intestine morphology	80144	FRAS1	OMIM:219000
HP:0002242	Abnormal intestine morphology	2294	FOXF1	OMIM:265380
HP:0002242	Abnormal intestine morphology	404672	GTF2H5	OMIM:616395
HP:0002242	Abnormal intestine morphology	2719	GPC3	OMIM:312870
HP:0002242	Abnormal intestine morphology	2239	GPC4	OMIM:312870
HP:0002242	Abnormal intestine morphology	2260	FGFR1	OMIM:190440
HP:0002242	Abnormal intestine morphology	10459	MAD2L2	ORPHA:84
HP:0002242	Abnormal intestine morphology	7516	XRCC2	ORPHA:84
HP:0002242	Abnormal intestine morphology	29089	UBE2T	ORPHA:84
HP:0002242	Abnormal intestine morphology	55120	FANCL	ORPHA:84
HP:0002242	Abnormal intestine morphology	2177	FANCD2	ORPHA:84
HP:0002242	Abnormal intestine morphology	2175	FANCA	ORPHA:84
HP:0002242	Abnormal intestine morphology	2187	FANCB	ORPHA:84
HP:0002242	Abnormal intestine morphology	2176	FANCC	ORPHA:84
HP:0002242	Abnormal intestine morphology	2178	FANCE	ORPHA:84
HP:0002242	Abnormal intestine morphology	2188	FANCF	ORPHA:84
HP:0002242	Abnormal intestine morphology	2189	FANCG	ORPHA:84
HP:0002242	Abnormal intestine morphology	5888	RAD51	ORPHA:84
HP:0002242	Abnormal intestine morphology	55159	RFWD3	ORPHA:84
HP:0002242	Abnormal intestine morphology	83990	BRIP1	ORPHA:84
HP:0002242	Abnormal intestine morphology	57697	FANCM	ORPHA:84
HP:0002242	Abnormal intestine morphology	84464	SLX4	ORPHA:84
HP:0002242	Abnormal intestine morphology	2072	ERCC4	ORPHA:84
HP:0002242	Abnormal intestine morphology	55215	FANCI	ORPHA:84
HP:0002242	Abnormal intestine morphology	9939	RBM8A	OMIM:274000
HP:0002242	Abnormal intestine morphology	8241	RBM10	OMIM:311900
HP:0002242	Abnormal intestine morphology	113189	CHST14	OMIM:601776
HP:0002242	Abnormal intestine morphology	7547	ZIC3	OMIM:306955
HP:0002242	Abnormal intestine morphology	28514	DLL1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2253	FGF8	ORPHA:280200
HP:0002242	Abnormal intestine morphology	6496	SIX3	ORPHA:280200
HP:0002242	Abnormal intestine morphology	7050	TGIF1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	4838	NODAL	ORPHA:280200
HP:0002242	Abnormal intestine morphology	4838	NODAL	OMIM:270100
HP:0002242	Abnormal intestine morphology	6469	SHH	ORPHA:280200
HP:0002242	Abnormal intestine morphology	7546	ZIC2	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2619	GAS1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	84976	DISP1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2736	GLI2	ORPHA:280200
HP:0002242	Abnormal intestine morphology	8928	FOXH1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	50937	CDON	ORPHA:280200
HP:0002242	Abnormal intestine morphology	10735	STAG2	OMIM:301043
HP:0002242	Abnormal intestine morphology	64840	PORCN	ORPHA:2092
HP:0002242	Abnormal intestine morphology	51780	KDM3B	OMIM:618846
HP:0002242	Abnormal intestine morphology	815	CAMK2A	OMIM:617798
HP:0002242	Abnormal intestine morphology	25914	RTTN	ORPHA:468631
HP:0002242	Abnormal intestine morphology	1859	DYRK1A	ORPHA:464311
HP:0002242	Abnormal intestine morphology	25790	CFAP45	OMIM:619608
HP:0002242	Abnormal intestine morphology	51729	WBP11	OMIM:619227
HP:0002242	Abnormal intestine morphology	55636	CHD7	OMIM:214800
HP:0002242	Abnormal intestine morphology	2313	FLI1	ORPHA:2308
HP:0002242	Abnormal intestine morphology	2201	FBN2	ORPHA:115
HP:0002242	Abnormal intestine morphology	79651	RHBDF2	ORPHA:2198
HP:0002242	Abnormal intestine morphology	79600	TCTN1	ORPHA:475
HP:0002242	Abnormal intestine morphology	79848	CSPP1	ORPHA:475
HP:0002242	Abnormal intestine morphology	51684	SUFU	ORPHA:475
HP:0002242	Abnormal intestine morphology	54806	AHI1	ORPHA:475
HP:0002242	Abnormal intestine morphology	54806	AHI1	ORPHA:220493
HP:0002242	Abnormal intestine morphology	153241	CEP120	ORPHA:475
HP:0002242	Abnormal intestine morphology	153241	CEP120	ORPHA:220493
HP:0002242	Abnormal intestine morphology	65250	CPLANE1	ORPHA:475
HP:0002242	Abnormal intestine morphology	91147	TMEM67	ORPHA:475
HP:0002242	Abnormal intestine morphology	200894	ARL13B	ORPHA:475
HP:0002242	Abnormal intestine morphology	9731	CEP104	ORPHA:475
HP:0002242	Abnormal intestine morphology	219844	HYLS1	ORPHA:475
HP:0002242	Abnormal intestine morphology	23247	KATNIP	ORPHA:475
HP:0002242	Abnormal intestine morphology	219854	TMEM218	ORPHA:475
HP:0002242	Abnormal intestine morphology	54903	MKS1	ORPHA:475
HP:0002242	Abnormal intestine morphology	54903	MKS1	ORPHA:220493
HP:0002242	Abnormal intestine morphology	95681	CEP41	ORPHA:475
HP:0002242	Abnormal intestine morphology	95681	CEP41	ORPHA:220493
HP:0002242	Abnormal intestine morphology	9786	KIAA0586	ORPHA:475
HP:0002242	Abnormal intestine morphology	56623	INPP5E	ORPHA:475
HP:0002242	Abnormal intestine morphology	56623	INPP5E	ORPHA:220493
HP:0002242	Abnormal intestine morphology	79867	TCTN2	ORPHA:475
HP:0002242	Abnormal intestine morphology	80776	B9D2	ORPHA:475
HP:0002242	Abnormal intestine morphology	10464	PIBF1	ORPHA:475
HP:0002242	Abnormal intestine morphology	80210	ARMC9	ORPHA:475
HP:0002242	Abnormal intestine morphology	23116	TOGARAM1	ORPHA:475
HP:0002242	Abnormal intestine morphology	25776	CBY1	ORPHA:475
HP:0002242	Abnormal intestine morphology	27077	B9D1	ORPHA:475
HP:0002242	Abnormal intestine morphology	403	ARL3	ORPHA:475
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:475
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:220497
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:2318
HP:0002242	Abnormal intestine morphology	25970	SH2B1	ORPHA:261222
HP:0002242	Abnormal intestine morphology	6535	SLC6A8	OMIM:300352
HP:0002242	Abnormal intestine morphology	6535	SLC6A8	ORPHA:52503
HP:0002242	Abnormal intestine morphology	10262	SF3B4	OMIM:154400
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	OMIM:209880
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	OMIM:613013
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:661
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:99803
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:2151
HP:0002242	Abnormal intestine morphology	26128	KIFBP	OMIM:609460
HP:0002242	Abnormal intestine morphology	26128	KIFBP	ORPHA:66629
HP:0002242	Abnormal intestine morphology	8195	MKKS	OMIM:236700
HP:0002242	Abnormal intestine morphology	8195	MKKS	ORPHA:2473
HP:0002242	Abnormal intestine morphology	84720	PIGO	OMIM:614749
HP:0002242	Abnormal intestine morphology	84720	PIGO	ORPHA:247262
HP:0002242	Abnormal intestine morphology	57167	SALL4	OMIM:607323
HP:0002242	Abnormal intestine morphology	57167	SALL4	ORPHA:959
HP:0002242	Abnormal intestine morphology	9839	ZEB2	OMIM:235730
HP:0002242	Abnormal intestine morphology	9839	ZEB2	ORPHA:261537
HP:0002242	Abnormal intestine morphology	9839	ZEB2	ORPHA:261552
HP:0002242	Abnormal intestine morphology	64324	NSD1	ORPHA:821
HP:0002242	Abnormal intestine morphology	29072	SETD2	ORPHA:821
HP:0002242	Abnormal intestine morphology	10297	APC2	ORPHA:821
HP:0002242	Abnormal intestine morphology	627	BDNF	ORPHA:661
HP:0002242	Abnormal intestine morphology	283446	MYO1H	ORPHA:661
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	OMIM:308205
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	ORPHA:2273
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	ORPHA:85284
HP:0002242	Abnormal intestine morphology	83479	DDX59	ORPHA:2919
HP:0002242	Abnormal intestine morphology	83479	DDX59	OMIM:174300
HP:0002242	Abnormal intestine morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002242	Abnormal intestine morphology	4867	NPHP1	ORPHA:220497
HP:0002242	Abnormal intestine morphology	1717	DHCR7	ORPHA:818
HP:0002242	Abnormal intestine morphology	1717	DHCR7	OMIM:270400
HP:0002242	Abnormal intestine morphology	429	ASCL1	ORPHA:99803
HP:0002242	Abnormal intestine morphology	6591	SNAI2	ORPHA:2884
HP:0002242	Abnormal intestine morphology	6591	SNAI2	ORPHA:895
HP:0002242	Abnormal intestine morphology	7299	TYR	ORPHA:895
HP:0002242	Abnormal intestine morphology	4254	KITLG	ORPHA:895
HP:0002242	Abnormal intestine morphology	5077	PAX3	ORPHA:894
HP:0002242	Abnormal intestine morphology	5077	PAX3	OMIM:148820
HP:0002242	Abnormal intestine morphology	84992	PIGY	ORPHA:247262
HP:0002242	Abnormal intestine morphology	93210	PGAP3	ORPHA:247262
HP:0002242	Abnormal intestine morphology	284098	PIGW	ORPHA:247262
HP:0002242	Abnormal intestine morphology	27315	PGAP2	ORPHA:247262
HP:0002242	Abnormal intestine morphology	27315	PGAP2	OMIM:614207
HP:0002242	Abnormal intestine morphology	9487	PIGL	ORPHA:247262
HP:0002242	Abnormal intestine morphology	84100	ARL6	OMIM:209900
HP:0002242	Abnormal intestine morphology	79140	CCDC28B	OMIM:209900
HP:0002242	Abnormal intestine morphology	582	BBS1	OMIM:209900
HP:0002242	Abnormal intestine morphology	546	ATRX	ORPHA:847
HP:0002242	Abnormal intestine morphology	1312	COMT	ORPHA:567
HP:0002242	Abnormal intestine morphology	221037	JMJD1C	ORPHA:567
HP:0002242	Abnormal intestine morphology	2812	GP1BB	ORPHA:567
HP:0002242	Abnormal intestine morphology	6239	RREB1	ORPHA:567
HP:0002242	Abnormal intestine morphology	6899	TBX1	ORPHA:567
HP:0002242	Abnormal intestine morphology	7290	HIRA	ORPHA:567
HP:0002242	Abnormal intestine morphology	9632	SEC24C	ORPHA:567
HP:0002242	Abnormal intestine morphology	7353	UFD1	ORPHA:567
HP:0002242	Abnormal intestine morphology	421	ARVCF	ORPHA:567
HP:0002242	Abnormal intestine morphology	79583	TMEM231	ORPHA:2318
HP:0002242	Abnormal intestine morphology	51524	TMEM138	ORPHA:2318
HP:0002242	Abnormal intestine morphology	23090	ZNF423	ORPHA:2318
HP:0002242	Abnormal intestine morphology	80184	CEP290	ORPHA:2318
HP:0002242	Abnormal intestine morphology	51259	TMEM216	ORPHA:2318
HP:0002242	Abnormal intestine morphology	57545	CC2D2A	ORPHA:2318
HP:0002242	Abnormal intestine morphology	3897	L1CAM	OMIM:304100
HP:0002242	Abnormal intestine morphology	3897	L1CAM	ORPHA:1497
HP:0002242	Abnormal intestine morphology	26040	SETBP1	ORPHA:798
HP:0002242	Abnormal intestine morphology	5310	PKD1	OMIM:173900
HP:0002242	Abnormal intestine morphology	10516	FBLN5	ORPHA:90348
HP:0002242	Abnormal intestine morphology	10516	FBLN5	ORPHA:90349
HP:0002242	Abnormal intestine morphology	5832	ALDH18A1	ORPHA:90348
HP:0002242	Abnormal intestine morphology	4052	LTBP1	ORPHA:90349
HP:0002242	Abnormal intestine morphology	30008	EFEMP2	ORPHA:90349
HP:0002242	Abnormal intestine morphology	2138	EYA1	OMIM:113650
HP:0002242	Abnormal intestine morphology	6495	SIX1	OMIM:113650
HP:0002242	Abnormal intestine morphology	4750	NEK1	OMIM:263520
HP:0002242	Abnormal intestine morphology	55209	SETD5	ORPHA:404440
HP:0002242	Abnormal intestine morphology	1387	CREBBP	ORPHA:353281
HP:0002242	Abnormal intestine morphology	1387	CREBBP	ORPHA:353277
HP:0002242	Abnormal intestine morphology	80816	ASXL3	OMIM:615485
HP:0002242	Abnormal intestine morphology	89910	UBE3B	OMIM:244450
HP:0002242	Abnormal intestine morphology	8882	ZPR1	OMIM:619321
HP:0002242	Abnormal intestine morphology	55997	CFC1	OMIM:605376
HP:0002242	Abnormal intestine morphology	2263	FGFR2	ORPHA:93260
HP:0002242	Abnormal intestine morphology	2263	FGFR2	ORPHA:93259
HP:0002242	Abnormal intestine morphology	4853	NOTCH2	OMIM:102500
HP:0002242	Abnormal intestine morphology	4853	NOTCH2	ORPHA:955
HP:0002242	Abnormal intestine morphology	7994	KAT6A	ORPHA:457193
HP:0002242	Abnormal intestine morphology	7994	KAT6A	OMIM:616268
HP:0002242	Abnormal intestine morphology	118856	MMP21	OMIM:616749
HP:0002242	Abnormal intestine morphology	8626	TP63	ORPHA:93930
HP:0002242	Abnormal intestine morphology	3670	ISL1	ORPHA:93930
HP:0002242	Abnormal intestine morphology	8091	HMGA2	ORPHA:94063
HP:0002242	Abnormal intestine morphology	23592	LEMD3	ORPHA:94063
HP:0002242	Abnormal intestine morphology	23414	ZFPM2	ORPHA:2140
HP:0002242	Abnormal intestine morphology	25	ABL1	OMIM:617602
HP:0002242	Abnormal intestine morphology	4036	LRP2	ORPHA:2143
HP:0002242	Abnormal intestine morphology	4036	LRP2	OMIM:222448
HP:0002242	Abnormal intestine morphology	3192	HNRNPU	ORPHA:238769
HP:0002242	Abnormal intestine morphology	79659	DYNC2H1	OMIM:613091
HP:0002242	Abnormal intestine morphology	10056	FARSB	OMIM:613658
HP:0002242	Abnormal intestine morphology	1718	DHCR24	ORPHA:35107
HP:0002242	Abnormal intestine morphology	27031	NPHP3	OMIM:208540
HP:0002242	Abnormal intestine morphology	27031	NPHP3	ORPHA:3032
HP:0002242	Abnormal intestine morphology	28952	CCDC22	OMIM:300963
HP:0002242	Abnormal intestine morphology	28952	CCDC22	ORPHA:7
HP:0002242	Abnormal intestine morphology	112752	IFT43	OMIM:617866
HP:0002242	Abnormal intestine morphology	9772	TMEM94	OMIM:618316
HP:0002242	Abnormal intestine morphology	139285	AMER1	OMIM:300373
HP:0002242	Abnormal intestine morphology	745	MYRF	OMIM:618280
HP:0002242	Abnormal intestine morphology	4087	SMAD2	OMIM:619657
HP:0002242	Abnormal intestine morphology	59	ACTA2	OMIM:613834
HP:0002242	Abnormal intestine morphology	79087	ALG12	ORPHA:79324
HP:0002242	Abnormal intestine morphology	25981	DNAH1	ORPHA:244
HP:0002242	Abnormal intestine morphology	115948	ODAD3	ORPHA:244
HP:0002242	Abnormal intestine morphology	54768	HYDIN	ORPHA:244
HP:0002242	Abnormal intestine morphology	352909	DNAAF3	ORPHA:244
HP:0002242	Abnormal intestine morphology	27148	STK36	ORPHA:244
HP:0002242	Abnormal intestine morphology	51314	NME8	ORPHA:244
HP:0002242	Abnormal intestine morphology	92749	DRC1	ORPHA:244
HP:0002242	Abnormal intestine morphology	54970	TTC12	ORPHA:244
HP:0002242	Abnormal intestine morphology	152110	NEK10	ORPHA:244
HP:0002242	Abnormal intestine morphology	8481	OFD1	ORPHA:244
HP:0002242	Abnormal intestine morphology	2302	FOXJ1	ORPHA:244
HP:0002242	Abnormal intestine morphology	221421	RSPH9	ORPHA:244
HP:0002242	Abnormal intestine morphology	85478	CCDC65	ORPHA:244
HP:0002242	Abnormal intestine morphology	55036	CCDC40	ORPHA:244
HP:0002242	Abnormal intestine morphology	51364	ZMYND10	ORPHA:244
HP:0002242	Abnormal intestine morphology	64446	DNAI2	ORPHA:244
HP:0002242	Abnormal intestine morphology	6674	SPAG1	ORPHA:244
HP:0002242	Abnormal intestine morphology	83544	DNAL1	ORPHA:244
HP:0002242	Abnormal intestine morphology	89765	RSPH1	ORPHA:244
HP:0002242	Abnormal intestine morphology	83538	ODAD4	ORPHA:244
HP:0002242	Abnormal intestine morphology	200373	CFAP221	ORPHA:244
HP:0002242	Abnormal intestine morphology	374407	DNAJB13	ORPHA:244
HP:0002242	Abnormal intestine morphology	55172	DNAAF2	ORPHA:244
HP:0002242	Abnormal intestine morphology	161582	DNAAF4	ORPHA:244
HP:0002242	Abnormal intestine morphology	2622	GAS8	ORPHA:244
HP:0002242	Abnormal intestine morphology	23639	DNAAF11	ORPHA:244
HP:0002242	Abnormal intestine morphology	27019	DNAI1	ORPHA:244
HP:0002242	Abnormal intestine morphology	345895	RSPH4A	ORPHA:244
HP:0002242	Abnormal intestine morphology	54919	DNAAF5	ORPHA:244
HP:0002242	Abnormal intestine morphology	6103	RPGR	ORPHA:244
HP:0002242	Abnormal intestine morphology	388389	CCDC103	ORPHA:244
HP:0002242	Abnormal intestine morphology	93233	ODAD1	ORPHA:244
HP:0002242	Abnormal intestine morphology	55130	ODAD2	ORPHA:244
HP:0002242	Abnormal intestine morphology	1767	DNAH5	ORPHA:244
HP:0002242	Abnormal intestine morphology	83861	RSPH3	ORPHA:244
HP:0002242	Abnormal intestine morphology	345643	MCIDAS	ORPHA:244
HP:0002242	Abnormal intestine morphology	56683	CFAP298	ORPHA:244
HP:0002242	Abnormal intestine morphology	79925	SPEF2	ORPHA:244
HP:0002242	Abnormal intestine morphology	10309	CCNO	ORPHA:244
HP:0002242	Abnormal intestine morphology	115399	LRRC56	ORPHA:244
HP:0002242	Abnormal intestine morphology	139212	DNAAF6	ORPHA:244
HP:0002242	Abnormal intestine morphology	123872	DNAAF1	ORPHA:244
HP:0002242	Abnormal intestine morphology	85016	CFAP300	ORPHA:244
HP:0002242	Abnormal intestine morphology	339829	CCDC39	ORPHA:244
HP:0002242	Abnormal intestine morphology	8701	DNAH11	ORPHA:244
HP:0002242	Abnormal intestine morphology	1770	DNAH9	ORPHA:244
HP:0002242	Abnormal intestine morphology	246176	GAS2L2	ORPHA:244
HP:0002242	Abnormal intestine morphology	9897	WASHC5	ORPHA:7
HP:0002242	Abnormal intestine morphology	3988	LIPA	ORPHA:75233
HP:0002242	Abnormal intestine morphology	3988	LIPA	OMIM:278000
HP:0002242	Abnormal intestine morphology	9056	SLC7A7	ORPHA:470
HP:0002242	Abnormal intestine morphology	51651	PTRH2	OMIM:616263
HP:0002242	Abnormal intestine morphology	57003	CCDC47	OMIM:618268
HP:0002242	Abnormal intestine morphology	3930	LBR	OMIM:613471
HP:0002242	Abnormal intestine morphology	338	APOB	OMIM:615558
HP:0002242	Abnormal intestine morphology	3117	HLA-DQA1	OMIM:212750
HP:0002242	Abnormal intestine morphology	3119	HLA-DQB1	OMIM:212750
HP:0002242	Abnormal intestine morphology	256297	PTF1A	OMIM:615935
HP:0002242	Abnormal intestine morphology	11330	CTRC	OMIM:167800
HP:0002242	Abnormal intestine morphology	6690	SPINK1	OMIM:167800
HP:0002242	Abnormal intestine morphology	5645	PRSS2	OMIM:167800
HP:0002242	Abnormal intestine morphology	5644	PRSS1	OMIM:167800
HP:0002242	Abnormal intestine morphology	123264	SLC51B	OMIM:619481
HP:0002242	Abnormal intestine morphology	8309	ACOX2	OMIM:617308
HP:0002242	Abnormal intestine morphology	23729	SHPK	ORPHA:440713
HP:0002242	Abnormal intestine morphology	84701	COX4I2	OMIM:612714
HP:0002242	Abnormal intestine morphology	23476	BRD4	ORPHA:199
HP:0002242	Abnormal intestine morphology	9126	SMC3	ORPHA:199
HP:0002242	Abnormal intestine morphology	8243	SMC1A	ORPHA:199
HP:0002242	Abnormal intestine morphology	55869	HDAC8	ORPHA:199
HP:0002242	Abnormal intestine morphology	738	VPS51	OMIM:618606
HP:0002242	Abnormal intestine morphology	55690	PACS1	OMIM:615009
HP:0002242	Abnormal intestine morphology	7407	VARS1	OMIM:617802
HP:0002242	Abnormal intestine morphology	1131	CHRM3	ORPHA:2970
HP:0002242	Abnormal intestine morphology	9051	PSTPIP1	OMIM:604416
HP:0002242	Abnormal intestine morphology	356	FASLG	ORPHA:3261
HP:0002242	Abnormal intestine morphology	5580	PRKCD	ORPHA:3261
HP:0002242	Abnormal intestine morphology	843	CASP10	ORPHA:3261
HP:0002242	Abnormal intestine morphology	10125	RASGRP1	ORPHA:3261
HP:0002242	Abnormal intestine morphology	5422	POLA1	OMIM:301220
HP:0002242	Abnormal intestine morphology	10625	IVNS1ABP	OMIM:618969
HP:0002242	Abnormal intestine morphology	5551	PRF1	ORPHA:540
HP:0002242	Abnormal intestine morphology	8676	STX11	ORPHA:540
HP:0002242	Abnormal intestine morphology	201294	UNC13D	ORPHA:540
HP:0002242	Abnormal intestine morphology	6813	STXBP2	ORPHA:540
HP:0002242	Abnormal intestine morphology	6813	STXBP2	OMIM:613101
HP:0002242	Abnormal intestine morphology	8915	BCL10	OMIM:616098
HP:0002242	Abnormal intestine morphology	23149	FCHO1	OMIM:619164
HP:0002242	Abnormal intestine morphology	146206	CARMIL2	OMIM:618131
HP:0002242	Abnormal intestine morphology	7535	ZAP70	OMIM:617006
HP:0002242	Abnormal intestine morphology	7535	ZAP70	ORPHA:911
HP:0002242	Abnormal intestine morphology	338328	GPIHBP1	OMIM:615947
HP:0002242	Abnormal intestine morphology	7010	TEK	ORPHA:1059
HP:0002242	Abnormal intestine morphology	7010	TEK	OMIM:600195
HP:0002242	Abnormal intestine morphology	64132	XYLT2	OMIM:605822
HP:0002242	Abnormal intestine morphology	4221	MEN1	ORPHA:652
HP:0002242	Abnormal intestine morphology	1027	CDKN1B	ORPHA:652
HP:0002242	Abnormal intestine morphology	1026	CDKN1A	ORPHA:652
HP:0002242	Abnormal intestine morphology	1030	CDKN2B	ORPHA:652
HP:0002242	Abnormal intestine morphology	1031	CDKN2C	ORPHA:652
HP:0002242	Abnormal intestine morphology	57492	ARID1B	OMIM:135900
HP:0002242	Abnormal intestine morphology	5321	PLA2G4A	OMIM:618372
HP:0002242	Abnormal intestine morphology	5340	PLG	OMIM:217090
HP:0002242	Abnormal intestine morphology	5340	PLG	ORPHA:722
HP:0002242	Abnormal intestine morphology	91574	MTRFR	ORPHA:254930
HP:0002242	Abnormal intestine morphology	91574	MTRFR	OMIM:613559
HP:0002242	Abnormal intestine morphology	2184	FAH	OMIM:276700
HP:0002242	Abnormal intestine morphology	9780	PIEZO1	OMIM:616843
HP:0002242	Abnormal intestine morphology	2130	EWSR1	ORPHA:83469
HP:0002242	Abnormal intestine morphology	7490	WT1	ORPHA:83469
HP:0002242	Abnormal intestine morphology	284119	CAVIN1	OMIM:613327
HP:0002242	Abnormal intestine morphology	5498	PPOX	ORPHA:79473
HP:0002242	Abnormal intestine morphology	3145	HMBS	ORPHA:79276
HP:0002242	Abnormal intestine morphology	26153	KIF26A	OMIM:620156
HP:0002242	Abnormal intestine morphology	23314	SATB2	ORPHA:576283
HP:0002242	Abnormal intestine morphology	51322	WAC	ORPHA:284169
HP:0002242	Abnormal intestine morphology	51256	TBC1D7	OMIM:248000
HP:0002242	Abnormal intestine morphology	8651	SOCS1	OMIM:619375
HP:0002242	Abnormal intestine morphology	6777	STAT5B	OMIM:618985
HP:0002242	Abnormal intestine morphology	3514	IGKC	ORPHA:183675
HP:0002242	Abnormal intestine morphology	3501	IGHG2	ORPHA:183675
HP:0002242	Abnormal intestine morphology	3594	IL12RB1	ORPHA:186
HP:0002242	Abnormal intestine morphology	23534	TNPO3	ORPHA:186
HP:0002242	Abnormal intestine morphology	6689	SPIB	ORPHA:186
HP:0002242	Abnormal intestine morphology	5450	POU2AF1	ORPHA:186
HP:0002242	Abnormal intestine morphology	9966	TNFSF15	ORPHA:186
HP:0002242	Abnormal intestine morphology	79258	MMEL1	ORPHA:186
HP:0002242	Abnormal intestine morphology	10847	SRCAP	OMIM:136140
HP:0002242	Abnormal intestine morphology	10847	SRCAP	ORPHA:2044
HP:0002242	Abnormal intestine morphology	29998	BICRA	OMIM:619325
HP:0002242	Abnormal intestine morphology	4953	ODC1	ORPHA:544488
HP:0002242	Abnormal intestine morphology	9414	TJP2	OMIM:607748
HP:0002242	Abnormal intestine morphology	4547	MTTP	ORPHA:14
HP:0002242	Abnormal intestine morphology	4547	MTTP	OMIM:200100
HP:0002242	Abnormal intestine morphology	6555	SLC10A2	OMIM:613291
HP:0002242	Abnormal intestine morphology	8647	ABCB11	OMIM:601847
HP:0002242	Abnormal intestine morphology	5406	PNLIP	OMIM:614338
HP:0002242	Abnormal intestine morphology	5205	ATP8B1	OMIM:211600
HP:0002242	Abnormal intestine morphology	51128	SAR1B	ORPHA:71
HP:0002242	Abnormal intestine morphology	23600	AMACR	OMIM:214950
HP:0002242	Abnormal intestine morphology	9420	CYP7B1	ORPHA:79302
HP:0002242	Abnormal intestine morphology	134218	DNAJC21	ORPHA:811
HP:0002242	Abnormal intestine morphology	79631	EFL1	ORPHA:811
HP:0002242	Abnormal intestine morphology	51119	SBDS	ORPHA:811
HP:0002242	Abnormal intestine morphology	6729	SRP54	ORPHA:811
HP:0002242	Abnormal intestine morphology	6718	AKR1D1	ORPHA:79303
HP:0002242	Abnormal intestine morphology	8313	AXIN2	ORPHA:401911
HP:0002242	Abnormal intestine morphology	8313	AXIN2	OMIM:608615
HP:0002242	Abnormal intestine morphology	716	C1S	OMIM:617174
HP:0002242	Abnormal intestine morphology	4913	NTHL1	ORPHA:454840
HP:0002242	Abnormal intestine morphology	4913	NTHL1	OMIM:616415
HP:0002242	Abnormal intestine morphology	7157	TP53	OMIM:151623
HP:0002242	Abnormal intestine morphology	7157	TP53	ORPHA:524
HP:0002242	Abnormal intestine morphology	7157	TP53	ORPHA:1333
HP:0002242	Abnormal intestine morphology	8930	MBD4	OMIM:619975
HP:0002242	Abnormal intestine morphology	4092	SMAD7	OMIM:612229
HP:0002242	Abnormal intestine morphology	4595	MUTYH	OMIM:608456
HP:0002242	Abnormal intestine morphology	6223	RPS19	OMIM:105650
HP:0002242	Abnormal intestine morphology	1029	CDKN2A	ORPHA:524
HP:0002242	Abnormal intestine morphology	1029	CDKN2A	ORPHA:1333
HP:0002242	Abnormal intestine morphology	4193	MDM2	ORPHA:524
HP:0002242	Abnormal intestine morphology	11200	CHEK2	ORPHA:524
HP:0002242	Abnormal intestine morphology	201163	FLCN	OMIM:135150
HP:0002242	Abnormal intestine morphology	9184	BUB3	ORPHA:1052
HP:0002242	Abnormal intestine morphology	699	BUB1	ORPHA:1052
HP:0002242	Abnormal intestine morphology	9702	CEP57	ORPHA:1052
HP:0002242	Abnormal intestine morphology	9319	TRIP13	ORPHA:1052
HP:0002242	Abnormal intestine morphology	701	BUB1B	ORPHA:1052
HP:0002242	Abnormal intestine morphology	672	BRCA1	ORPHA:1333
HP:0002242	Abnormal intestine morphology	285282	RABL3	ORPHA:1333
HP:0002242	Abnormal intestine morphology	675	BRCA2	ORPHA:1333
HP:0002242	Abnormal intestine morphology	79728	PALB2	ORPHA:1333
HP:0002242	Abnormal intestine morphology	23022	PALLD	ORPHA:1333
HP:0002242	Abnormal intestine morphology	2304	FOXE1	ORPHA:319487
HP:0002242	Abnormal intestine morphology	3026	HABP2	ORPHA:319487
HP:0002242	Abnormal intestine morphology	9562	MINPP1	ORPHA:319487
HP:0002242	Abnormal intestine morphology	4437	MSH3	ORPHA:480536
HP:0002242	Abnormal intestine morphology	58484	NLRC4	OMIM:616050
HP:0002242	Abnormal intestine morphology	10043	TOM1	ORPHA:391487
HP:0002242	Abnormal intestine morphology	26873	OPLAH	OMIM:260005
HP:0002242	Abnormal intestine morphology	3587	IL10RA	OMIM:613148
HP:0002242	Abnormal intestine morphology	5336	PLCG2	OMIM:614878
HP:0002242	Abnormal intestine morphology	3588	IL10RB	OMIM:612567
HP:0002242	Abnormal intestine morphology	5294	PIK3CG	OMIM:619802
HP:0002242	Abnormal intestine morphology	5979	RET	OMIM:142623
HP:0002242	Abnormal intestine morphology	1991	ELANE	ORPHA:2686
HP:0002242	Abnormal intestine morphology	2627	GATA6	OMIM:600001
HP:0002242	Abnormal intestine morphology	2984	GUCY2C	OMIM:614665
HP:0002242	Abnormal intestine morphology	10269	ZMPSTE24	ORPHA:1662
HP:0002242	Abnormal intestine morphology	6663	SOX10	ORPHA:163746
HP:0002242	Abnormal intestine morphology	25802	LMOD1	ORPHA:2241
HP:0002242	Abnormal intestine morphology	25802	LMOD1	OMIM:619362
HP:0002242	Abnormal intestine morphology	4638	MYLK	ORPHA:2241
HP:0002242	Abnormal intestine morphology	3190	HNRNPK	ORPHA:453504
HP:0002242	Abnormal intestine morphology	3190	HNRNPK	ORPHA:352665
HP:0002242	Abnormal intestine morphology	4558	MT-TF	ORPHA:550
HP:0002242	Abnormal intestine morphology	4572	MT-TQ	ORPHA:550
HP:0002242	Abnormal intestine morphology	4512	MT-CO1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4513	MT-CO2	ORPHA:550
HP:0002242	Abnormal intestine morphology	4514	MT-CO3	ORPHA:550
HP:0002242	Abnormal intestine morphology	4578	MT-TW	ORPHA:550
HP:0002242	Abnormal intestine morphology	4540	MT-ND5	ORPHA:550
HP:0002242	Abnormal intestine morphology	4541	MT-ND6	ORPHA:550
HP:0002242	Abnormal intestine morphology	4535	MT-ND1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4538	MT-ND4	ORPHA:550
HP:0002242	Abnormal intestine morphology	4574	MT-TS1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4575	MT-TS2	ORPHA:550
HP:0002242	Abnormal intestine morphology	4564	MT-TH	ORPHA:550
HP:0002242	Abnormal intestine morphology	56652	TWNK	OMIM:607459
HP:0002242	Abnormal intestine morphology	56652	TWNK	ORPHA:70595
HP:0002242	Abnormal intestine morphology	151648	SGO1	OMIM:616201
HP:0002242	Abnormal intestine morphology	6608	SMO	OMIM:601707
HP:0002242	Abnormal intestine morphology	3423	IDS	OMIM:309900
HP:0002242	Abnormal intestine morphology	3980	LIG3	OMIM:619780
HP:0002242	Abnormal intestine morphology	2065	ERBB3	OMIM:243180
HP:0002242	Abnormal intestine morphology	6392	SDHD	ORPHA:201
HP:0002242	Abnormal intestine morphology	205717	USF3	ORPHA:201
HP:0002242	Abnormal intestine morphology	100144748	KLLN	ORPHA:201
HP:0002242	Abnormal intestine morphology	7020	TFAP2A	OMIM:113620
HP:0002242	Abnormal intestine morphology	9968	MED12	ORPHA:93932
HP:0002242	Abnormal intestine morphology	25836	NIPBL	OMIM:122470
HP:0002242	Abnormal intestine morphology	2317	FLNB	ORPHA:1190
HP:0002242	Abnormal intestine morphology	5238	PGM3	ORPHA:443811
HP:0002242	Abnormal intestine morphology	6304	SATB1	OMIM:619229
HP:0002242	Abnormal intestine morphology	1024	CDK8	OMIM:618748
HP:0002242	Abnormal intestine morphology	6299	SALL1	OMIM:107480
HP:0002242	Abnormal intestine morphology	6299	SALL1	ORPHA:857
HP:0002242	Abnormal intestine morphology	51339	DACT1	ORPHA:857
HP:0002242	Abnormal intestine morphology	29940	DSE	ORPHA:2953
HP:0002242	Abnormal intestine morphology	23522	KAT6B	OMIM:606170
HP:0002242	Abnormal intestine morphology	54361	WNT4	ORPHA:139466
HP:0002242	Abnormal intestine morphology	53834	FGFRL1	OMIM:194190
HP:0002242	Abnormal intestine morphology	1487	CTBP1	OMIM:194190
HP:0002242	Abnormal intestine morphology	3954	LETM1	OMIM:194190
HP:0002242	Abnormal intestine morphology	7468	NSD2	OMIM:194190
HP:0002242	Abnormal intestine morphology	10815	CPLX1	OMIM:194190
HP:0002242	Abnormal intestine morphology	5727	PTCH1	OMIM:109400
HP:0002242	Abnormal intestine morphology	6558	SLC12A2	OMIM:619080
HP:0002242	Abnormal intestine morphology	1723	DHODH	OMIM:263750
HP:0002242	Abnormal intestine morphology	1493	CTLA4	ORPHA:900
HP:0002242	Abnormal intestine morphology	26191	PTPN22	ORPHA:900
HP:0002242	Abnormal intestine morphology	3115	HLA-DPB1	ORPHA:900
HP:0002242	Abnormal intestine morphology	5657	PRTN3	ORPHA:900
HP:0002242	Abnormal intestine morphology	3113	HLA-DPA1	ORPHA:900
HP:0002242	Abnormal intestine morphology	4598	MVK	ORPHA:343
HP:0002242	Abnormal intestine morphology	2131	EXT1	ORPHA:321
HP:0002242	Abnormal intestine morphology	2132	EXT2	ORPHA:321
HP:0002242	Abnormal intestine morphology	4609	MYC	ORPHA:543
HP:0002242	Abnormal intestine morphology	3718	JAK3	OMIM:600802
HP:0002242	Abnormal intestine morphology	6905	TBCE	ORPHA:2323
HP:0002242	Abnormal intestine morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002242	Abnormal intestine morphology	5317	PKP1	ORPHA:158668
HP:0002242	Abnormal intestine morphology	81839	VANGL1	OMIM:600145
HP:0002242	Abnormal intestine morphology	3689	ITGB2	OMIM:116920
HP:0002242	Abnormal intestine morphology	5880	RAC2	OMIM:608203
HP:0002242	Abnormal intestine morphology	710	SERPING1	ORPHA:100050
HP:0002242	Abnormal intestine morphology	710	SERPING1	OMIM:106100
HP:0002242	Abnormal intestine morphology	2161	F12	OMIM:610618
HP:0002242	Abnormal intestine morphology	4613	MYCN	ORPHA:391641
HP:0002242	Abnormal intestine morphology	4613	MYCN	OMIM:164280
HP:0002242	Abnormal intestine morphology	374879	ZNF699	OMIM:619488
HP:0002242	Abnormal intestine morphology	4659	PPP1R12A	OMIM:618820
HP:0002242	Abnormal intestine morphology	1063	CENPF	OMIM:243605
HP:0002242	Abnormal intestine morphology	1174	AP1S1	OMIM:609313
HP:0002242	Abnormal intestine morphology	407975	MIR17HG	ORPHA:391646
HP:0002242	Abnormal intestine morphology	8604	SLC25A12	OMIM:612949
HP:0002242	Abnormal intestine morphology	4927	NUP88	ORPHA:994
HP:0002242	Abnormal intestine morphology	7846	TUBA1A	ORPHA:994
HP:0002242	Abnormal intestine morphology	4654	MYOD1	ORPHA:994
HP:0002242	Abnormal intestine morphology	4593	MUSK	ORPHA:994
HP:0002242	Abnormal intestine morphology	5913	RAPSN	ORPHA:994
HP:0002242	Abnormal intestine morphology	6572	SLC18A3	ORPHA:994
HP:0002242	Abnormal intestine morphology	285489	DOK7	ORPHA:994
HP:0002242	Abnormal intestine morphology	79827	CLMP	ORPHA:2301
HP:0002242	Abnormal intestine morphology	2475	MTOR	ORPHA:457485
HP:0002242	Abnormal intestine morphology	6714	SRC	OMIM:114500
HP:0002242	Abnormal intestine morphology	10395	DLC1	OMIM:114500
HP:0002242	Abnormal intestine morphology	2033	EP300	OMIM:114500
HP:0002242	Abnormal intestine morphology	5782	PTPN12	OMIM:114500
HP:0002242	Abnormal intestine morphology	5320	PLA2G2A	OMIM:114500
HP:0002242	Abnormal intestine morphology	6790	AURKA	OMIM:114500
HP:0002242	Abnormal intestine morphology	1630	DCC	OMIM:114500
HP:0002242	Abnormal intestine morphology	581	BAX	OMIM:114500
HP:0002242	Abnormal intestine morphology	25788	RAD54B	OMIM:114500
HP:0002242	Abnormal intestine morphology	595	CCND1	OMIM:114500
HP:0002242	Abnormal intestine morphology	2261	FGFR3	OMIM:114500
HP:0002242	Abnormal intestine morphology	7097	TLR2	OMIM:114500
HP:0002242	Abnormal intestine morphology	4893	NRAS	OMIM:114500
HP:0002242	Abnormal intestine morphology	4163	MCC	OMIM:114500
HP:0002242	Abnormal intestine morphology	207	AKT1	OMIM:114500
HP:0002242	Abnormal intestine morphology	5157	PDGFRL	OMIM:114500
HP:0002242	Abnormal intestine morphology	5795	PTPRJ	OMIM:114500
HP:0002242	Abnormal intestine morphology	673	BRAF	OMIM:114500
HP:0002242	Abnormal intestine morphology	81704	DOCK8	ORPHA:217390
HP:0002242	Abnormal intestine morphology	3110	MNX1	OMIM:176450
HP:0002242	Abnormal intestine morphology	1349	COX7B	OMIM:309801
HP:0002242	Abnormal intestine morphology	3052	HCCS	OMIM:309801
HP:0002242	Abnormal intestine morphology	54539	NDUFB11	OMIM:309801
HP:0002242	Abnormal intestine morphology	3655	ITGA6	ORPHA:79403
HP:0002242	Abnormal intestine morphology	3691	ITGB4	ORPHA:79403
HP:0002242	Abnormal intestine morphology	25942	SIN3A	ORPHA:94065
HP:0002242	Abnormal intestine morphology	6651	SON	OMIM:617140
HP:0002242	Abnormal intestine morphology	29925	GMPPB	OMIM:615351
HP:0002242	Abnormal intestine morphology	55898	UNC45A	OMIM:619377
HP:0002242	Abnormal intestine morphology	7482	WNT2B	OMIM:618168
HP:0002242	Abnormal intestine morphology	50619	DEF6	OMIM:619573
HP:0002242	Abnormal intestine morphology	9652	SKIC3	OMIM:222470
HP:0002242	Abnormal intestine morphology	9652	SKIC3	ORPHA:84064
HP:0002242	Abnormal intestine morphology	6499	SKIC2	OMIM:614602
HP:0002242	Abnormal intestine morphology	6499	SKIC2	ORPHA:84064
HP:0002242	Abnormal intestine morphology	6850	SYK	OMIM:619381
HP:0002242	Abnormal intestine morphology	79796	ALG9	ORPHA:79328
HP:0002242	Abnormal intestine morphology	10195	ALG3	OMIM:601110
HP:0002242	Abnormal intestine morphology	3559	IL2RA	OMIM:606367
HP:0002242	Abnormal intestine morphology	5373	PMM2	OMIM:212065
HP:0002242	Abnormal intestine morphology	26585	GREM1	ORPHA:157794
HP:0002242	Abnormal intestine morphology	341640	FREM2	OMIM:617666
HP:0002242	Abnormal intestine morphology	5889	RAD51C	OMIM:613390
HP:0002242	Abnormal intestine morphology	57217	TTC7A	OMIM:243150
HP:0002242	Abnormal intestine morphology	26123	TCTN3	ORPHA:2753
HP:0002242	Abnormal intestine morphology	55593	OTUD5	OMIM:301056
HP:0002242	Abnormal intestine morphology	3643	INSR	ORPHA:508
HP:0002242	Abnormal intestine morphology	23556	PIGN	ORPHA:280633
HP:0002242	Abnormal intestine morphology	7276	TTR	ORPHA:85451
HP:0002242	Abnormal intestine morphology	3938	LCT	OMIM:223000
HP:0002242	Abnormal intestine morphology	4175	MCM6	OMIM:223100
HP:0002242	Abnormal intestine morphology	50484	RRM2B	ORPHA:298
HP:0002242	Abnormal intestine morphology	267010	RNU12	OMIM:603116
HP:0002242	Abnormal intestine morphology	4281	MID1	OMIM:300000
HP:0002242	Abnormal intestine morphology	5885	RAD21	OMIM:611376
HP:0002242	Abnormal intestine morphology	72	ACTG2	OMIM:155310
HP:0002242	Abnormal intestine morphology	715	C1R	OMIM:130080
HP:0002242	Abnormal intestine morphology	567	B2M	ORPHA:314652
HP:0002242	Abnormal intestine morphology	3716	JAK1	OMIM:618999
HP:0002242	Abnormal intestine morphology	7128	TNFAIP3	OMIM:616744
HP:0002242	Abnormal intestine morphology	5970	RELA	OMIM:618287
HP:0002242	Abnormal intestine morphology	6868	ADAM17	OMIM:614328
HP:0002242	Abnormal intestine morphology	10526	IPO8	OMIM:619472
HP:0002242	Abnormal intestine morphology	8547	FCN3	OMIM:613860
HP:0002242	Abnormal intestine morphology	2271	FH	OMIM:606812
HP:0002242	Abnormal intestine morphology	37	ACADVL	OMIM:201475
HP:0002242	Abnormal intestine morphology	6809	STX3	OMIM:619445
HP:0002242	Abnormal intestine morphology	2859	GPR35	ORPHA:171
HP:0002242	Abnormal intestine morphology	10507	SEMA4D	ORPHA:171
HP:0002242	Abnormal intestine morphology	4485	MST1	ORPHA:171
HP:0002242	Abnormal intestine morphology	6925	TCF4	ORPHA:171
HP:0002242	Abnormal intestine morphology	6135	RPL11	ORPHA:124
HP:0002242	Abnormal intestine morphology	6138	RPL15	ORPHA:124
HP:0002242	Abnormal intestine morphology	6229	RPS24	ORPHA:124
HP:0002242	Abnormal intestine morphology	6125	RPL5	ORPHA:124
HP:0002242	Abnormal intestine morphology	6204	RPS10	ORPHA:124
HP:0002242	Abnormal intestine morphology	6165	RPL35A	ORPHA:124
HP:0002242	Abnormal intestine morphology	2623	GATA1	ORPHA:124
HP:0002242	Abnormal intestine morphology	6232	RPS27	ORPHA:124
HP:0002242	Abnormal intestine morphology	6231	RPS26	ORPHA:124
HP:0002242	Abnormal intestine morphology	11224	RPL35	ORPHA:124
HP:0002242	Abnormal intestine morphology	6160	RPL31	ORPHA:124
HP:0002242	Abnormal intestine morphology	6218	RPS17	ORPHA:124
HP:0002242	Abnormal intestine morphology	6201	RPS7	ORPHA:124
HP:0002242	Abnormal intestine morphology	6155	RPL27	ORPHA:124
HP:0002242	Abnormal intestine morphology	6154	RPL26	ORPHA:124
HP:0002242	Abnormal intestine morphology	6210	RPS15A	ORPHA:124
HP:0002242	Abnormal intestine morphology	90121	TSR2	ORPHA:124
HP:0002242	Abnormal intestine morphology	6141	RPL18	ORPHA:124
HP:0002242	Abnormal intestine morphology	6235	RPS29	ORPHA:124
HP:0002242	Abnormal intestine morphology	6234	RPS28	ORPHA:124
HP:0002242	Abnormal intestine morphology	51816	ADA2	ORPHA:124
HP:0002242	Abnormal intestine morphology	5426	POLE	ORPHA:447877
HP:0002242	Abnormal intestine morphology	5424	POLD1	ORPHA:447877
HP:0002242	Abnormal intestine morphology	7373	COL14A1	ORPHA:79501
HP:0002242	Abnormal intestine morphology	79719	AAGAB	ORPHA:79501
HP:0002242	Abnormal intestine morphology	641	BLM	ORPHA:125
HP:0002242	Abnormal intestine morphology	6389	SDHA	ORPHA:44890
HP:0002242	Abnormal intestine morphology	6390	SDHB	ORPHA:44890
HP:0002242	Abnormal intestine morphology	6391	SDHC	ORPHA:44890
HP:0002242	Abnormal intestine morphology	5156	PDGFRA	ORPHA:44890
HP:0002242	Abnormal intestine morphology	3815	KIT	ORPHA:44890
HP:0002242	Abnormal intestine morphology	60468	BACH2	OMIM:618394
HP:0002242	Abnormal intestine morphology	55765	INAVA	OMIM:618077
HP:0002242	Abnormal intestine morphology	10747	MASP2	OMIM:613791
HP:0002242	Abnormal intestine morphology	27178	IL37	OMIM:619398
HP:0002242	Abnormal intestine morphology	6885	MAP3K7	OMIM:617137
HP:0002242	Abnormal intestine morphology	84433	CARD11	OMIM:617638
HP:0002242	Abnormal intestine morphology	1794	DOCK2	OMIM:616433
HP:0002242	Abnormal intestine morphology	5573	PRKAR1A	ORPHA:1359
HP:0002242	Abnormal intestine morphology	50940	PDE11A	ORPHA:1359
HP:0002242	Abnormal intestine morphology	145173	B3GLCT	ORPHA:709
HP:0002242	Abnormal intestine morphology	54894	RNF43	ORPHA:157798
HP:0002242	Abnormal intestine morphology	64220	STRA6	ORPHA:2470
HP:0002242	Abnormal intestine morphology	5915	RARB	ORPHA:2470
HP:0002242	Abnormal intestine morphology	8318	CDC45	OMIM:617063
HP:0002242	Abnormal intestine morphology	2022	ENG	ORPHA:329971
HP:0002242	Abnormal intestine morphology	2658	GDF2	ORPHA:774
HP:0002242	Abnormal intestine morphology	94	ACVRL1	ORPHA:774
HP:0002242	Abnormal intestine morphology	215	ABCD1	ORPHA:388
HP:0002242	Abnormal intestine morphology	2668	GDNF	ORPHA:388
HP:0002242	Abnormal intestine morphology	1889	ECE1	ORPHA:388
HP:0002242	Abnormal intestine morphology	6720	SREBF1	ORPHA:388
HP:0002242	Abnormal intestine morphology	223117	SEMA3D	ORPHA:388
HP:0002242	Abnormal intestine morphology	10512	SEMA3C	ORPHA:388
HP:0002242	Abnormal intestine morphology	2064	ERBB2	ORPHA:388
HP:0002242	Abnormal intestine morphology	4902	NRTN	ORPHA:388
HP:0002242	Abnormal intestine morphology	2778	GNAS	OMIM:174800
HP:0002242	Abnormal intestine morphology	10483	SEC23B	OMIM:616858
HP:0002242	Abnormal intestine morphology	9817	KEAP1	ORPHA:276399
HP:0002242	Abnormal intestine morphology	23405	DICER1	ORPHA:276399
HP:0002242	Abnormal intestine morphology	129563	DIS3L2	OMIM:267000
HP:0002243	Protein-losing enteropathy	83483	PLVAP	OMIM:618183
HP:0002243	Protein-losing enteropathy	4351	MPI	ORPHA:79319
HP:0002243	Protein-losing enteropathy	4351	MPI	OMIM:602579
HP:0002243	Protein-losing enteropathy	6772	STAT1	OMIM:614162
HP:0002243	Protein-losing enteropathy	54914	FOCAD	OMIM:619991
HP:0002243	Protein-losing enteropathy	5286	PIK3C2A	OMIM:618440
HP:0002243	Protein-losing enteropathy	22900	CARD8	OMIM:619079
HP:0002243	Protein-losing enteropathy	1604	CD55	OMIM:613793
HP:0002243	Protein-losing enteropathy	29929	ALG6	ORPHA:79320
HP:0002243	Protein-losing enteropathy	147372	CCBE1	OMIM:235510
HP:0002243	Protein-losing enteropathy	56052	ALG1	ORPHA:79327
HP:0002243	Protein-losing enteropathy	100303755	PET117	OMIM:619063
HP:0002243	Protein-losing enteropathy	9508	ADAMTS3	OMIM:618154
HP:0002243	Protein-losing enteropathy	8694	DGAT1	OMIM:615863
HP:0002243	Protein-losing enteropathy	84342	COG8	ORPHA:95428
HP:0002243	Protein-losing enteropathy	29760	BLNK	OMIM:613502
HP:0002243	Protein-losing enteropathy	5728	PTEN	ORPHA:79076
HP:0002243	Protein-losing enteropathy	657	BMPR1A	ORPHA:79076
HP:0002243	Protein-losing enteropathy	79053	ALG8	OMIM:608104
HP:0002243	Protein-losing enteropathy	199221	DZIP1L	ORPHA:731
HP:0002243	Protein-losing enteropathy	5314	PKHD1	ORPHA:731
HP:0002244	Abnormal small intestine morphology	83483	PLVAP	OMIM:618183
HP:0002244	Abnormal small intestine morphology	4351	MPI	ORPHA:79319
HP:0002244	Abnormal small intestine morphology	4351	MPI	OMIM:602579
HP:0002244	Abnormal small intestine morphology	6772	STAT1	OMIM:614162
HP:0002244	Abnormal small intestine morphology	54914	FOCAD	OMIM:619991
HP:0002244	Abnormal small intestine morphology	5286	PIK3C2A	OMIM:618440
HP:0002244	Abnormal small intestine morphology	22900	CARD8	OMIM:619079
HP:0002244	Abnormal small intestine morphology	1604	CD55	OMIM:613793
HP:0002244	Abnormal small intestine morphology	29929	ALG6	ORPHA:79320
HP:0002244	Abnormal small intestine morphology	147372	CCBE1	OMIM:235510
HP:0002244	Abnormal small intestine morphology	56052	ALG1	ORPHA:79327
HP:0002244	Abnormal small intestine morphology	100303755	PET117	OMIM:619063
HP:0002244	Abnormal small intestine morphology	9508	ADAMTS3	OMIM:618154
HP:0002244	Abnormal small intestine morphology	8694	DGAT1	OMIM:615863
HP:0002244	Abnormal small intestine morphology	84342	COG8	ORPHA:95428
HP:0002244	Abnormal small intestine morphology	29760	BLNK	OMIM:613502
HP:0002244	Abnormal small intestine morphology	5728	PTEN	ORPHA:79076
HP:0002244	Abnormal small intestine morphology	657	BMPR1A	ORPHA:79076
HP:0002244	Abnormal small intestine morphology	79053	ALG8	OMIM:608104
HP:0002244	Abnormal small intestine morphology	199221	DZIP1L	ORPHA:731
HP:0002244	Abnormal small intestine morphology	5314	PKHD1	ORPHA:731
HP:0002244	Abnormal small intestine morphology	7852	CXCR4	ORPHA:51636
HP:0002244	Abnormal small intestine morphology	80144	FRAS1	OMIM:219000
HP:0002244	Abnormal small intestine morphology	2294	FOXF1	OMIM:265380
HP:0002244	Abnormal small intestine morphology	404672	GTF2H5	OMIM:616395
HP:0002244	Abnormal small intestine morphology	222546	RFX6	OMIM:615710
HP:0002244	Abnormal small intestine morphology	2719	GPC3	OMIM:312870
HP:0002244	Abnormal small intestine morphology	2239	GPC4	OMIM:312870
HP:0002244	Abnormal small intestine morphology	2260	FGFR1	OMIM:190440
HP:0002244	Abnormal small intestine morphology	672	BRCA1	ORPHA:84
HP:0002244	Abnormal small intestine morphology	10459	MAD2L2	ORPHA:84
HP:0002244	Abnormal small intestine morphology	7516	XRCC2	ORPHA:84
HP:0002244	Abnormal small intestine morphology	29089	UBE2T	ORPHA:84
HP:0002244	Abnormal small intestine morphology	675	BRCA2	ORPHA:84
HP:0002244	Abnormal small intestine morphology	55120	FANCL	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2177	FANCD2	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2175	FANCA	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2187	FANCB	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2176	FANCC	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2178	FANCE	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2188	FANCF	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2189	FANCG	ORPHA:84
HP:0002244	Abnormal small intestine morphology	5888	RAD51	ORPHA:84
HP:0002244	Abnormal small intestine morphology	5889	RAD51C	ORPHA:84
HP:0002244	Abnormal small intestine morphology	55159	RFWD3	ORPHA:84
HP:0002244	Abnormal small intestine morphology	83990	BRIP1	ORPHA:84
HP:0002244	Abnormal small intestine morphology	57697	FANCM	ORPHA:84
HP:0002244	Abnormal small intestine morphology	79728	PALB2	ORPHA:84
HP:0002244	Abnormal small intestine morphology	84464	SLX4	ORPHA:84
HP:0002244	Abnormal small intestine morphology	2072	ERCC4	ORPHA:84
HP:0002244	Abnormal small intestine morphology	55215	FANCI	ORPHA:84
HP:0002244	Abnormal small intestine morphology	9939	RBM8A	OMIM:274000
HP:0002244	Abnormal small intestine morphology	8241	RBM10	OMIM:311900
HP:0002244	Abnormal small intestine morphology	113189	CHST14	OMIM:601776
HP:0002244	Abnormal small intestine morphology	7547	ZIC3	OMIM:306955
HP:0002244	Abnormal small intestine morphology	28514	DLL1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	2253	FGF8	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	6496	SIX3	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	7050	TGIF1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	4838	NODAL	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	4838	NODAL	OMIM:270100
HP:0002244	Abnormal small intestine morphology	6469	SHH	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	51684	SUFU	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	7546	ZIC2	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	2619	GAS1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	84976	DISP1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	2736	GLI2	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	8928	FOXH1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	5727	PTCH1	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	50937	CDON	ORPHA:280200
HP:0002244	Abnormal small intestine morphology	10735	STAG2	OMIM:301043
HP:0002244	Abnormal small intestine morphology	64840	PORCN	ORPHA:2092
HP:0002244	Abnormal small intestine morphology	51780	KDM3B	OMIM:618846
HP:0002244	Abnormal small intestine morphology	815	CAMK2A	OMIM:617798
HP:0002244	Abnormal small intestine morphology	23556	PIGN	ORPHA:2059
HP:0002244	Abnormal small intestine morphology	25914	RTTN	ORPHA:468631
HP:0002244	Abnormal small intestine morphology	1859	DYRK1A	ORPHA:464311
HP:0002244	Abnormal small intestine morphology	701	BUB1B	OMIM:257300
HP:0002244	Abnormal small intestine morphology	701	BUB1B	ORPHA:1052
HP:0002244	Abnormal small intestine morphology	6299	SALL1	OMIM:107480
HP:0002244	Abnormal small intestine morphology	9184	BUB3	ORPHA:1052
HP:0002244	Abnormal small intestine morphology	699	BUB1	ORPHA:1052
HP:0002244	Abnormal small intestine morphology	9702	CEP57	ORPHA:1052
HP:0002244	Abnormal small intestine morphology	9702	CEP57	OMIM:614114
HP:0002244	Abnormal small intestine morphology	9319	TRIP13	ORPHA:1052
HP:0002244	Abnormal small intestine morphology	473	RERE	OMIM:616975
HP:0002244	Abnormal small intestine morphology	25790	CFAP45	OMIM:619608
HP:0002244	Abnormal small intestine morphology	51729	WBP11	OMIM:619227
HP:0002244	Abnormal small intestine morphology	55636	CHD7	OMIM:214800
HP:0002244	Abnormal small intestine morphology	2313	FLI1	ORPHA:2308
HP:0002244	Abnormal small intestine morphology	2201	FBN2	ORPHA:115
HP:0002244	Abnormal small intestine morphology	2006	ELN	ORPHA:90348
HP:0002244	Abnormal small intestine morphology	10516	FBLN5	ORPHA:90348
HP:0002244	Abnormal small intestine morphology	10516	FBLN5	ORPHA:90349
HP:0002244	Abnormal small intestine morphology	5832	ALDH18A1	ORPHA:90348
HP:0002244	Abnormal small intestine morphology	4052	LTBP1	ORPHA:90349
HP:0002244	Abnormal small intestine morphology	30008	EFEMP2	ORPHA:90349
HP:0002244	Abnormal small intestine morphology	3988	LIPA	ORPHA:75233
HP:0002244	Abnormal small intestine morphology	3988	LIPA	OMIM:278000
HP:0002244	Abnormal small intestine morphology	4072	EPCAM	ORPHA:92050
HP:0002244	Abnormal small intestine morphology	105371045	PERCC1	ORPHA:92050
HP:0002244	Abnormal small intestine morphology	2212	FCGR2A	OMIM:219700
HP:0002244	Abnormal small intestine morphology	7040	TGFB1	OMIM:219700
HP:0002244	Abnormal small intestine morphology	7040	TGFB1	ORPHA:586
HP:0002244	Abnormal small intestine morphology	1080	CFTR	OMIM:219700
HP:0002244	Abnormal small intestine morphology	1080	CFTR	OMIM:167800
HP:0002244	Abnormal small intestine morphology	1080	CFTR	ORPHA:586
HP:0002244	Abnormal small intestine morphology	9056	SLC7A7	ORPHA:470
HP:0002244	Abnormal small intestine morphology	51651	PTRH2	OMIM:616263
HP:0002244	Abnormal small intestine morphology	57003	CCDC47	OMIM:618268
HP:0002244	Abnormal small intestine morphology	3930	LBR	OMIM:613471
HP:0002244	Abnormal small intestine morphology	5193	PEX12	OMIM:266510
HP:0002244	Abnormal small intestine morphology	79827	CLMP	OMIM:615237
HP:0002244	Abnormal small intestine morphology	118429	ANTXR2	ORPHA:2176
HP:0002244	Abnormal small intestine morphology	338	APOB	OMIM:615558
HP:0002244	Abnormal small intestine morphology	3117	HLA-DQA1	OMIM:212750
HP:0002244	Abnormal small intestine morphology	3119	HLA-DQB1	OMIM:212750
HP:0002244	Abnormal small intestine morphology	256297	PTF1A	OMIM:615935
HP:0002244	Abnormal small intestine morphology	11330	CTRC	OMIM:167800
HP:0002244	Abnormal small intestine morphology	6690	SPINK1	OMIM:167800
HP:0002244	Abnormal small intestine morphology	5645	PRSS2	OMIM:167800
HP:0002244	Abnormal small intestine morphology	5644	PRSS1	OMIM:167800
HP:0002244	Abnormal small intestine morphology	123264	SLC51B	OMIM:619481
HP:0002244	Abnormal small intestine morphology	6804	STX1A	ORPHA:586
HP:0002244	Abnormal small intestine morphology	2947	GSTM3	ORPHA:586
HP:0002244	Abnormal small intestine morphology	2729	GCLC	ORPHA:586
HP:0002244	Abnormal small intestine morphology	1084	CEACAM3	ORPHA:586
HP:0002244	Abnormal small intestine morphology	6556	SLC11A1	ORPHA:586
HP:0002244	Abnormal small intestine morphology	51164	DCTN4	ORPHA:586
HP:0002244	Abnormal small intestine morphology	3783	KCNN4	ORPHA:586
HP:0002244	Abnormal small intestine morphology	4282	MIF	ORPHA:586
HP:0002244	Abnormal small intestine morphology	1909	EDNRA	ORPHA:586
HP:0002244	Abnormal small intestine morphology	6550	SLC9A3	ORPHA:586
HP:0002244	Abnormal small intestine morphology	3162	HMOX1	ORPHA:586
HP:0002244	Abnormal small intestine morphology	115019	SLC26A9	ORPHA:586
HP:0002244	Abnormal small intestine morphology	3077	HFE	ORPHA:586
HP:0002244	Abnormal small intestine morphology	11254	SLC6A14	ORPHA:586
HP:0002244	Abnormal small intestine morphology	5265	SERPINA1	ORPHA:586
HP:0002244	Abnormal small intestine morphology	22802	CLCA4	ORPHA:586
HP:0002244	Abnormal small intestine morphology	4680	CEACAM6	ORPHA:586
HP:0002244	Abnormal small intestine morphology	8309	ACOX2	OMIM:617308
HP:0002244	Abnormal small intestine morphology	23729	SHPK	ORPHA:440713
HP:0002244	Abnormal small intestine morphology	84701	COX4I2	OMIM:612714
HP:0002244	Abnormal small intestine morphology	5373	PMM2	OMIM:212065
HP:0002244	Abnormal small intestine morphology	64132	XYLT2	OMIM:605822
HP:0002244	Abnormal small intestine morphology	4221	MEN1	ORPHA:652
HP:0002244	Abnormal small intestine morphology	1027	CDKN1B	ORPHA:652
HP:0002244	Abnormal small intestine morphology	1026	CDKN1A	ORPHA:652
HP:0002244	Abnormal small intestine morphology	1030	CDKN2B	ORPHA:652
HP:0002244	Abnormal small intestine morphology	1031	CDKN2C	ORPHA:652
HP:0002244	Abnormal small intestine morphology	2033	EP300	OMIM:618333
HP:0002244	Abnormal small intestine morphology	57492	ARID1B	OMIM:135900
HP:0002244	Abnormal small intestine morphology	5321	PLA2G4A	OMIM:618372
HP:0002244	Abnormal small intestine morphology	5340	PLG	OMIM:217090
HP:0002244	Abnormal small intestine morphology	5340	PLG	ORPHA:722
HP:0002244	Abnormal small intestine morphology	23314	SATB2	ORPHA:576283
HP:0002244	Abnormal small intestine morphology	9968	MED12	OMIM:301068
HP:0002244	Abnormal small intestine morphology	51322	WAC	ORPHA:284169
HP:0002244	Abnormal small intestine morphology	51256	TBC1D7	OMIM:248000
HP:0002244	Abnormal small intestine morphology	2859	GPR35	ORPHA:171
HP:0002244	Abnormal small intestine morphology	10507	SEMA4D	ORPHA:171
HP:0002244	Abnormal small intestine morphology	4485	MST1	ORPHA:171
HP:0002244	Abnormal small intestine morphology	6925	TCF4	ORPHA:171
HP:0002244	Abnormal small intestine morphology	8651	SOCS1	OMIM:619375
HP:0002244	Abnormal small intestine morphology	6774	STAT3	OMIM:615952
HP:0002244	Abnormal small intestine morphology	10625	IVNS1ABP	OMIM:618969
HP:0002244	Abnormal small intestine morphology	6777	STAT5B	OMIM:618985
HP:0002244	Abnormal small intestine morphology	3514	IGKC	ORPHA:183675
HP:0002244	Abnormal small intestine morphology	3501	IGHG2	ORPHA:183675
HP:0002244	Abnormal small intestine morphology	3594	IL12RB1	ORPHA:186
HP:0002244	Abnormal small intestine morphology	23534	TNPO3	ORPHA:186
HP:0002244	Abnormal small intestine morphology	3592	IL12A	ORPHA:186
HP:0002244	Abnormal small intestine morphology	6689	SPIB	ORPHA:186
HP:0002244	Abnormal small intestine morphology	5450	POU2AF1	ORPHA:186
HP:0002244	Abnormal small intestine morphology	9966	TNFSF15	ORPHA:186
HP:0002244	Abnormal small intestine morphology	79258	MMEL1	ORPHA:186
HP:0002244	Abnormal small intestine morphology	3663	IRF5	ORPHA:186
HP:0002244	Abnormal small intestine morphology	10847	SRCAP	OMIM:136140
HP:0002244	Abnormal small intestine morphology	10847	SRCAP	ORPHA:2044
HP:0002244	Abnormal small intestine morphology	29998	BICRA	OMIM:619325
HP:0002244	Abnormal small intestine morphology	4953	ODC1	ORPHA:544488
HP:0002244	Abnormal small intestine morphology	51085	MLXIPL	OMIM:194050
HP:0002244	Abnormal small intestine morphology	9414	TJP2	OMIM:607748
HP:0002244	Abnormal small intestine morphology	4547	MTTP	ORPHA:14
HP:0002244	Abnormal small intestine morphology	4547	MTTP	OMIM:200100
HP:0002244	Abnormal small intestine morphology	80270	HSD3B7	OMIM:607765
HP:0002244	Abnormal small intestine morphology	6555	SLC10A2	OMIM:613291
HP:0002244	Abnormal small intestine morphology	8647	ABCB11	OMIM:601847
HP:0002244	Abnormal small intestine morphology	5406	PNLIP	OMIM:614338
HP:0002244	Abnormal small intestine morphology	5205	ATP8B1	OMIM:211600
HP:0002244	Abnormal small intestine morphology	51128	SAR1B	ORPHA:71
HP:0002244	Abnormal small intestine morphology	23600	AMACR	OMIM:214950
HP:0002244	Abnormal small intestine morphology	9420	CYP7B1	ORPHA:79302
HP:0002244	Abnormal small intestine morphology	134218	DNAJC21	ORPHA:811
HP:0002244	Abnormal small intestine morphology	79631	EFL1	ORPHA:811
HP:0002244	Abnormal small intestine morphology	51119	SBDS	ORPHA:811
HP:0002244	Abnormal small intestine morphology	6729	SRP54	ORPHA:811
HP:0002244	Abnormal small intestine morphology	6718	AKR1D1	ORPHA:79303
HP:0002244	Abnormal small intestine morphology	29940	DSE	ORPHA:2953
HP:0002244	Abnormal small intestine morphology	23522	KAT6B	OMIM:606170
HP:0002244	Abnormal small intestine morphology	54361	WNT4	ORPHA:139466
HP:0002244	Abnormal small intestine morphology	53834	FGFRL1	OMIM:194190
HP:0002244	Abnormal small intestine morphology	1487	CTBP1	OMIM:194190
HP:0002244	Abnormal small intestine morphology	3954	LETM1	OMIM:194190
HP:0002244	Abnormal small intestine morphology	7468	NSD2	OMIM:194190
HP:0002244	Abnormal small intestine morphology	10815	CPLX1	OMIM:194190
HP:0002244	Abnormal small intestine morphology	5297	PI4KA	ORPHA:436252
HP:0002244	Abnormal small intestine morphology	4613	MYCN	ORPHA:391641
HP:0002244	Abnormal small intestine morphology	4613	MYCN	OMIM:164280
HP:0002244	Abnormal small intestine morphology	374879	ZNF699	OMIM:619488
HP:0002244	Abnormal small intestine morphology	57217	TTC7A	OMIM:243150
HP:0002244	Abnormal small intestine morphology	4659	PPP1R12A	OMIM:618820
HP:0002244	Abnormal small intestine morphology	1063	CENPF	OMIM:243605
HP:0002244	Abnormal small intestine morphology	1174	AP1S1	OMIM:609313
HP:0002244	Abnormal small intestine morphology	407975	MIR17HG	ORPHA:391646
HP:0002244	Abnormal small intestine morphology	8604	SLC25A12	OMIM:612949
HP:0002244	Abnormal small intestine morphology	29925	GMPPB	OMIM:615351
HP:0002244	Abnormal small intestine morphology	10043	TOM1	ORPHA:391487
HP:0002244	Abnormal small intestine morphology	10043	TOM1	OMIM:619510
HP:0002244	Abnormal small intestine morphology	5122	PCSK1	OMIM:600955
HP:0002244	Abnormal small intestine morphology	55898	UNC45A	OMIM:619377
HP:0002244	Abnormal small intestine morphology	7482	WNT2B	OMIM:618168
HP:0002244	Abnormal small intestine morphology	4645	MYO5B	ORPHA:2290
HP:0002244	Abnormal small intestine morphology	4645	MYO5B	OMIM:251850
HP:0002244	Abnormal small intestine morphology	50619	DEF6	OMIM:619573
HP:0002244	Abnormal small intestine morphology	9652	SKIC3	OMIM:222470
HP:0002244	Abnormal small intestine morphology	9652	SKIC3	ORPHA:84064
HP:0002244	Abnormal small intestine morphology	4261	CIITA	OMIM:209920
HP:0002244	Abnormal small intestine morphology	5994	RFXAP	OMIM:209920
HP:0002244	Abnormal small intestine morphology	5993	RFX5	OMIM:209920
HP:0002244	Abnormal small intestine morphology	8625	RFXANK	OMIM:209920
HP:0002244	Abnormal small intestine morphology	6499	SKIC2	OMIM:614602
HP:0002244	Abnormal small intestine morphology	6499	SKIC2	ORPHA:84064
HP:0002244	Abnormal small intestine morphology	987	LRBA	OMIM:614700
HP:0002244	Abnormal small intestine morphology	50943	FOXP3	OMIM:304790
HP:0002244	Abnormal small intestine morphology	6850	SYK	OMIM:619381
HP:0002244	Abnormal small intestine morphology	79796	ALG9	ORPHA:79328
HP:0002244	Abnormal small intestine morphology	10195	ALG3	OMIM:601110
HP:0002244	Abnormal small intestine morphology	58484	NLRC4	OMIM:616050
HP:0002244	Abnormal small intestine morphology	11005	SPINK5	OMIM:256500
HP:0002244	Abnormal small intestine morphology	3559	IL2RA	OMIM:606367
HP:0002244	Abnormal small intestine morphology	3938	LCT	OMIM:223000
HP:0002244	Abnormal small intestine morphology	4175	MCM6	OMIM:223100
HP:0002244	Abnormal small intestine morphology	2316	FLNA	OMIM:300048
HP:0002244	Abnormal small intestine morphology	5885	RAD21	OMIM:611376
HP:0002244	Abnormal small intestine morphology	4629	MYH11	OMIM:619350
HP:0002244	Abnormal small intestine morphology	72	ACTG2	OMIM:155310
HP:0002244	Abnormal small intestine morphology	7128	TNFAIP3	OMIM:616744
HP:0002244	Abnormal small intestine morphology	5970	RELA	OMIM:618287
HP:0002244	Abnormal small intestine morphology	6868	ADAM17	OMIM:614328
HP:0002244	Abnormal small intestine morphology	10526	IPO8	OMIM:619472
HP:0002244	Abnormal small intestine morphology	6809	STX3	OMIM:619445
HP:0002244	Abnormal small intestine morphology	64220	STRA6	ORPHA:2470
HP:0002244	Abnormal small intestine morphology	5915	RARB	ORPHA:2470
HP:0002244	Abnormal small intestine morphology	2623	GATA1	OMIM:190685
HP:0002244	Abnormal small intestine morphology	8318	CDC45	OMIM:617063
HP:0002244	Abnormal small intestine morphology	129563	DIS3L2	OMIM:267000
HP:0002245	Meckel diverticulum	2294	FOXF1	OMIM:265380
HP:0002245	Meckel diverticulum	404672	GTF2H5	OMIM:616395
HP:0002245	Meckel diverticulum	222546	RFX6	OMIM:615710
HP:0002245	Meckel diverticulum	2719	GPC3	OMIM:312870
HP:0002245	Meckel diverticulum	2239	GPC4	OMIM:312870
HP:0002245	Meckel diverticulum	2260	FGFR1	OMIM:190440
HP:0002245	Meckel diverticulum	672	BRCA1	ORPHA:84
HP:0002245	Meckel diverticulum	10459	MAD2L2	ORPHA:84
HP:0002245	Meckel diverticulum	7516	XRCC2	ORPHA:84
HP:0002245	Meckel diverticulum	29089	UBE2T	ORPHA:84
HP:0002245	Meckel diverticulum	675	BRCA2	ORPHA:84
HP:0002245	Meckel diverticulum	55120	FANCL	ORPHA:84
HP:0002245	Meckel diverticulum	2177	FANCD2	ORPHA:84
HP:0002245	Meckel diverticulum	2175	FANCA	ORPHA:84
HP:0002245	Meckel diverticulum	2187	FANCB	ORPHA:84
HP:0002245	Meckel diverticulum	2176	FANCC	ORPHA:84
HP:0002245	Meckel diverticulum	2178	FANCE	ORPHA:84
HP:0002245	Meckel diverticulum	2188	FANCF	ORPHA:84
HP:0002245	Meckel diverticulum	2189	FANCG	ORPHA:84
HP:0002245	Meckel diverticulum	5888	RAD51	ORPHA:84
HP:0002245	Meckel diverticulum	5889	RAD51C	ORPHA:84
HP:0002245	Meckel diverticulum	55159	RFWD3	ORPHA:84
HP:0002245	Meckel diverticulum	83990	BRIP1	ORPHA:84
HP:0002245	Meckel diverticulum	57697	FANCM	ORPHA:84
HP:0002245	Meckel diverticulum	79728	PALB2	ORPHA:84
HP:0002245	Meckel diverticulum	84464	SLX4	ORPHA:84
HP:0002245	Meckel diverticulum	2072	ERCC4	ORPHA:84
HP:0002245	Meckel diverticulum	55215	FANCI	ORPHA:84
HP:0002245	Meckel diverticulum	9939	RBM8A	OMIM:274000
HP:0002245	Meckel diverticulum	8241	RBM10	OMIM:311900
HP:0002246	Abnormal duodenum morphology	113189	CHST14	OMIM:601776
HP:0002246	Abnormal duodenum morphology	8241	RBM10	ORPHA:2886
HP:0002246	Abnormal duodenum morphology	7547	ZIC3	OMIM:306955
HP:0002246	Abnormal duodenum morphology	2260	FGFR1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	28514	DLL1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	2253	FGF8	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	6496	SIX3	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	7050	TGIF1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	4838	NODAL	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	4838	NODAL	OMIM:270100
HP:0002246	Abnormal duodenum morphology	6469	SHH	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	51684	SUFU	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	7546	ZIC2	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	2619	GAS1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	84976	DISP1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	2736	GLI2	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	8928	FOXH1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	5727	PTCH1	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	50937	CDON	ORPHA:280200
HP:0002246	Abnormal duodenum morphology	10735	STAG2	OMIM:301043
HP:0002246	Abnormal duodenum morphology	4613	MYCN	ORPHA:391641
HP:0002246	Abnormal duodenum morphology	4613	MYCN	OMIM:164280
HP:0002246	Abnormal duodenum morphology	64840	PORCN	ORPHA:2092
HP:0002246	Abnormal duodenum morphology	51780	KDM3B	OMIM:618846
HP:0002246	Abnormal duodenum morphology	222546	RFX6	OMIM:615710
HP:0002246	Abnormal duodenum morphology	815	CAMK2A	OMIM:617798
HP:0002246	Abnormal duodenum morphology	23556	PIGN	ORPHA:2059
HP:0002246	Abnormal duodenum morphology	1063	CENPF	OMIM:243605
HP:0002246	Abnormal duodenum morphology	25914	RTTN	ORPHA:468631
HP:0002246	Abnormal duodenum morphology	1859	DYRK1A	ORPHA:464311
HP:0002246	Abnormal duodenum morphology	701	BUB1B	OMIM:257300
HP:0002246	Abnormal duodenum morphology	701	BUB1B	ORPHA:1052
HP:0002246	Abnormal duodenum morphology	6299	SALL1	OMIM:107480
HP:0002246	Abnormal duodenum morphology	9184	BUB3	ORPHA:1052
HP:0002246	Abnormal duodenum morphology	699	BUB1	ORPHA:1052
HP:0002246	Abnormal duodenum morphology	9702	CEP57	ORPHA:1052
HP:0002246	Abnormal duodenum morphology	9702	CEP57	OMIM:614114
HP:0002246	Abnormal duodenum morphology	9319	TRIP13	ORPHA:1052
HP:0002246	Abnormal duodenum morphology	473	RERE	OMIM:616975
HP:0002246	Abnormal duodenum morphology	25790	CFAP45	OMIM:619608
HP:0002246	Abnormal duodenum morphology	51729	WBP11	OMIM:619227
HP:0002246	Abnormal duodenum morphology	55636	CHD7	OMIM:214800
HP:0002246	Abnormal duodenum morphology	2313	FLI1	ORPHA:2308
HP:0002246	Abnormal duodenum morphology	2201	FBN2	ORPHA:115
HP:0002246	Abnormal duodenum morphology	64132	XYLT2	OMIM:605822
HP:0002246	Abnormal duodenum morphology	6850	SYK	OMIM:619381
HP:0002246	Abnormal duodenum morphology	4221	MEN1	ORPHA:652
HP:0002246	Abnormal duodenum morphology	1027	CDKN1B	ORPHA:652
HP:0002246	Abnormal duodenum morphology	1026	CDKN1A	ORPHA:652
HP:0002246	Abnormal duodenum morphology	1030	CDKN2B	ORPHA:652
HP:0002246	Abnormal duodenum morphology	1031	CDKN2C	ORPHA:652
HP:0002246	Abnormal duodenum morphology	2033	EP300	OMIM:618333
HP:0002246	Abnormal duodenum morphology	57492	ARID1B	OMIM:135900
HP:0002246	Abnormal duodenum morphology	5321	PLA2G4A	OMIM:618372
HP:0002246	Abnormal duodenum morphology	5340	PLG	OMIM:217090
HP:0002246	Abnormal duodenum morphology	5340	PLG	ORPHA:722
HP:0002246	Abnormal duodenum morphology	5885	RAD21	OMIM:611376
HP:0002246	Abnormal duodenum morphology	4629	MYH11	OMIM:619350
HP:0002246	Abnormal duodenum morphology	72	ACTG2	OMIM:155310
HP:0002246	Abnormal duodenum morphology	6868	ADAM17	OMIM:614328
HP:0002246	Abnormal duodenum morphology	10526	IPO8	OMIM:619472
HP:0002246	Abnormal duodenum morphology	22900	CARD8	OMIM:619079
HP:0002246	Abnormal duodenum morphology	57217	TTC7A	ORPHA:2300
HP:0002246	Abnormal duodenum morphology	2294	FOXF1	ORPHA:210122
HP:0002246	Abnormal duodenum morphology	64220	STRA6	ORPHA:2470
HP:0002246	Abnormal duodenum morphology	5915	RARB	ORPHA:2470
HP:0002246	Abnormal duodenum morphology	672	BRCA1	ORPHA:84
HP:0002246	Abnormal duodenum morphology	10459	MAD2L2	ORPHA:84
HP:0002246	Abnormal duodenum morphology	7516	XRCC2	ORPHA:84
HP:0002246	Abnormal duodenum morphology	29089	UBE2T	ORPHA:84
HP:0002246	Abnormal duodenum morphology	675	BRCA2	ORPHA:84
HP:0002246	Abnormal duodenum morphology	55120	FANCL	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2177	FANCD2	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2175	FANCA	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2187	FANCB	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2176	FANCC	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2178	FANCE	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2188	FANCF	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2189	FANCG	ORPHA:84
HP:0002246	Abnormal duodenum morphology	5888	RAD51	ORPHA:84
HP:0002246	Abnormal duodenum morphology	5889	RAD51C	ORPHA:84
HP:0002246	Abnormal duodenum morphology	55159	RFWD3	ORPHA:84
HP:0002246	Abnormal duodenum morphology	83990	BRIP1	ORPHA:84
HP:0002246	Abnormal duodenum morphology	57697	FANCM	ORPHA:84
HP:0002246	Abnormal duodenum morphology	79728	PALB2	ORPHA:84
HP:0002246	Abnormal duodenum morphology	84464	SLX4	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2072	ERCC4	ORPHA:84
HP:0002246	Abnormal duodenum morphology	55215	FANCI	ORPHA:84
HP:0002246	Abnormal duodenum morphology	2623	GATA1	OMIM:190685
HP:0002246	Abnormal duodenum morphology	8318	CDC45	OMIM:617063
HP:0002247	Duodenal atresia	2188	FANCF	OMIM:603467
HP:0002247	Duodenal atresia	7547	ZIC3	OMIM:306955
HP:0002247	Duodenal atresia	2260	FGFR1	ORPHA:280200
HP:0002247	Duodenal atresia	28514	DLL1	ORPHA:280200
HP:0002247	Duodenal atresia	2253	FGF8	ORPHA:280200
HP:0002247	Duodenal atresia	6496	SIX3	ORPHA:280200
HP:0002247	Duodenal atresia	7050	TGIF1	ORPHA:280200
HP:0002247	Duodenal atresia	4838	NODAL	ORPHA:280200
HP:0002247	Duodenal atresia	4838	NODAL	OMIM:270100
HP:0002247	Duodenal atresia	6469	SHH	ORPHA:280200
HP:0002247	Duodenal atresia	51684	SUFU	ORPHA:280200
HP:0002247	Duodenal atresia	7546	ZIC2	ORPHA:280200
HP:0002247	Duodenal atresia	2619	GAS1	ORPHA:280200
HP:0002247	Duodenal atresia	84976	DISP1	ORPHA:280200
HP:0002247	Duodenal atresia	2736	GLI2	ORPHA:280200
HP:0002247	Duodenal atresia	8928	FOXH1	ORPHA:280200
HP:0002247	Duodenal atresia	5727	PTCH1	ORPHA:280200
HP:0002247	Duodenal atresia	50937	CDON	ORPHA:280200
HP:0002247	Duodenal atresia	2294	FOXF1	OMIM:265380
HP:0002247	Duodenal atresia	10735	STAG2	OMIM:301043
HP:0002247	Duodenal atresia	4613	MYCN	ORPHA:391641
HP:0002247	Duodenal atresia	4613	MYCN	OMIM:164280
HP:0002247	Duodenal atresia	57217	TTC7A	OMIM:243150
HP:0002247	Duodenal atresia	64840	PORCN	ORPHA:2092
HP:0002247	Duodenal atresia	2187	FANCB	OMIM:300514
HP:0002247	Duodenal atresia	51780	KDM3B	OMIM:618846
HP:0002247	Duodenal atresia	222546	RFX6	OMIM:615710
HP:0002247	Duodenal atresia	815	CAMK2A	OMIM:617798
HP:0002247	Duodenal atresia	23556	PIGN	ORPHA:2059
HP:0002247	Duodenal atresia	1063	CENPF	OMIM:243605
HP:0002247	Duodenal atresia	25914	RTTN	ORPHA:468631
HP:0002247	Duodenal atresia	1859	DYRK1A	ORPHA:464311
HP:0002247	Duodenal atresia	701	BUB1B	OMIM:257300
HP:0002247	Duodenal atresia	701	BUB1B	ORPHA:1052
HP:0002247	Duodenal atresia	6299	SALL1	OMIM:107480
HP:0002247	Duodenal atresia	9184	BUB3	ORPHA:1052
HP:0002247	Duodenal atresia	699	BUB1	ORPHA:1052
HP:0002247	Duodenal atresia	9702	CEP57	ORPHA:1052
HP:0002247	Duodenal atresia	9702	CEP57	OMIM:614114
HP:0002247	Duodenal atresia	9319	TRIP13	ORPHA:1052
HP:0002247	Duodenal atresia	55159	RFWD3	OMIM:617784
HP:0002247	Duodenal atresia	473	RERE	OMIM:616975
HP:0002247	Duodenal atresia	25790	CFAP45	OMIM:619608
HP:0002247	Duodenal atresia	51729	WBP11	OMIM:619227
HP:0002247	Duodenal atresia	55636	CHD7	OMIM:214800
HP:0002247	Duodenal atresia	2313	FLI1	ORPHA:2308
HP:0002247	Duodenal atresia	2201	FBN2	ORPHA:115
HP:0002248	Hematemesis	9968	MED12	OMIM:301068
HP:0002248	Hematemesis	94	ACVRL1	OMIM:600376
HP:0002248	Hematemesis	4221	MEN1	ORPHA:652
HP:0002248	Hematemesis	1027	CDKN1B	ORPHA:652
HP:0002248	Hematemesis	1026	CDKN1A	ORPHA:652
HP:0002248	Hematemesis	1030	CDKN2B	ORPHA:652
HP:0002248	Hematemesis	1031	CDKN2C	ORPHA:652
HP:0002248	Hematemesis	1616	DAXX	ORPHA:100075
HP:0002248	Hematemesis	546	ATRX	ORPHA:100075
HP:0002248	Hematemesis	2022	ENG	OMIM:187300
HP:0002248	Hematemesis	7454	WAS	OMIM:301000
HP:0002248	Hematemesis	7454	WAS	ORPHA:906
HP:0002248	Hematemesis	2811	GP1BA	ORPHA:274
HP:0002248	Hematemesis	2812	GP1BB	ORPHA:274
HP:0002248	Hematemesis	2815	GP9	ORPHA:274
HP:0002248	Hematemesis	2243	FGA	OMIM:202400
HP:0002248	Hematemesis	2244	FGB	OMIM:202400
HP:0002248	Hematemesis	2266	FGG	OMIM:202400
HP:0002248	Hematemesis	5314	PKHD1	OMIM:263200
HP:0002248	Hematemesis	64135	IFIH1	OMIM:615846
HP:0002248	Hematemesis	7456	WIPF1	ORPHA:906
HP:0002249	Melena	324	APC	OMIM:619182
HP:0002249	Melena	324	APC	ORPHA:99818
HP:0002249	Melena	6720	SREBF1	OMIM:158310
HP:0002249	Melena	94	ACVRL1	OMIM:600376
HP:0002249	Melena	9493	KIF23	ORPHA:98870
HP:0002249	Melena	29127	RACGAP1	ORPHA:98870
HP:0002249	Melena	4221	MEN1	ORPHA:652
HP:0002249	Melena	1027	CDKN1B	ORPHA:652
HP:0002249	Melena	1026	CDKN1A	ORPHA:652
HP:0002249	Melena	1030	CDKN2B	ORPHA:652
HP:0002249	Melena	1031	CDKN2C	ORPHA:652
HP:0002249	Melena	1616	DAXX	ORPHA:100075
HP:0002249	Melena	546	ATRX	ORPHA:100075
HP:0002249	Melena	2022	ENG	OMIM:187300
HP:0002249	Melena	7454	WAS	OMIM:301000
HP:0002249	Melena	5728	PTEN	ORPHA:79076
HP:0002249	Melena	657	BMPR1A	ORPHA:79076
HP:0002249	Melena	2184	FAH	OMIM:276700
HP:0002249	Melena	2811	GP1BA	ORPHA:853
HP:0002249	Melena	2812	GP1BB	ORPHA:853
HP:0002249	Melena	3674	ITGA2B	ORPHA:853
HP:0002249	Melena	3673	ITGA2	ORPHA:853
HP:0002249	Melena	135228	CD109	ORPHA:853
HP:0002249	Melena	3690	ITGB3	ORPHA:853
HP:0012462	Chin myoclonus	154881	KCTD7	ORPHA:263516
HP:0012463	Elevated transferrin saturation	55240	STEAP3	OMIM:615234
HP:0012463	Elevated transferrin saturation	654	BMP6	ORPHA:465508
HP:0012463	Elevated transferrin saturation	654	BMP6	OMIM:620121
HP:0012463	Elevated transferrin saturation	3077	HFE	ORPHA:465508
HP:0012463	Elevated transferrin saturation	57817	HAMP	OMIM:613313
HP:0012463	Elevated transferrin saturation	57817	HAMP	ORPHA:79230
HP:0012463	Elevated transferrin saturation	54977	SLC25A38	OMIM:205950
HP:0012463	Elevated transferrin saturation	148738	HJV	ORPHA:79230
HP:0012463	Elevated transferrin saturation	2495	FTH1	OMIM:615517
HP:0012463	Elevated transferrin saturation	30061	SLC40A1	OMIM:606069
HP:0012463	Elevated transferrin saturation	7036	TFR2	OMIM:604250
HP:0012463	Elevated transferrin saturation	5313	PKLR	ORPHA:766
HP:0012464	Decreased transferrin saturation	55240	STEAP3	ORPHA:300298
HP:0012464	Decreased transferrin saturation	617	BCS1L	ORPHA:53693
HP:0012465	Elevated hepatic iron concentration	3043	HBB	ORPHA:231222
HP:0012465	Elevated hepatic iron concentration	55240	STEAP3	ORPHA:300298
HP:0012465	Elevated hepatic iron concentration	55240	STEAP3	OMIM:615234
HP:0012465	Elevated hepatic iron concentration	2512	FTL	ORPHA:254704
HP:0012465	Elevated hepatic iron concentration	51218	GLRX5	OMIM:616860
HP:0012465	Elevated hepatic iron concentration	5277	PIGA	OMIM:300868
HP:0012465	Elevated hepatic iron concentration	54914	FOCAD	OMIM:619991
HP:0012465	Elevated hepatic iron concentration	4891	SLC11A2	OMIM:206100
HP:0012465	Elevated hepatic iron concentration	1356	CP	ORPHA:48818
HP:0012465	Elevated hepatic iron concentration	2495	FTH1	OMIM:615517
HP:0012465	Elevated hepatic iron concentration	10667	FARS2	OMIM:614946
HP:0012465	Elevated hepatic iron concentration	617	BCS1L	ORPHA:53693
HP:0012465	Elevated hepatic iron concentration	654	BMP6	OMIM:620121
HP:0012468	Chronic acidosis	2937	GSS	OMIM:266130
HP:0012468	Chronic acidosis	617	BCS1L	OMIM:603358
HP:0012468	Chronic acidosis	5160	PDHA1	OMIM:312170
HP:0012468	Chronic acidosis	6514	SLC2A2	OMIM:227810
HP:0012469	Infantile spasms	2639	GCDH	ORPHA:25
HP:0012469	Infantile spasms	199857	ALG14	OMIM:619031
HP:0012469	Infantile spasms	8243	SMC1A	OMIM:301044
HP:0012469	Infantile spasms	8243	SMC1A	ORPHA:3095
HP:0012469	Infantile spasms	79876	UBA5	OMIM:617132
HP:0012469	Infantile spasms	10617	STAMBP	OMIM:614261
HP:0012469	Infantile spasms	340533	NEXMIF	OMIM:300912
HP:0012469	Infantile spasms	2775	GNAO1	OMIM:617493
HP:0012469	Infantile spasms	2775	GNAO1	ORPHA:1934
HP:0012469	Infantile spasms	9759	HDAC4	OMIM:619797
HP:0012469	Infantile spasms	9853	RUSC2	OMIM:617773
HP:0012469	Infantile spasms	7355	SLC35A2	ORPHA:356961
HP:0012469	Infantile spasms	92335	STRADA	ORPHA:500533
HP:0012469	Infantile spasms	1798	DPAGT1	OMIM:608093
HP:0012469	Infantile spasms	51807	TUBA8	ORPHA:250972
HP:0012469	Infantile spasms	55325	UFSP2	OMIM:620028
HP:0012469	Infantile spasms	22845	DOLK	ORPHA:91131
HP:0012469	Infantile spasms	170302	ARX	OMIM:308350
HP:0012469	Infantile spasms	170302	ARX	ORPHA:3451
HP:0012469	Infantile spasms	170302	ARX	OMIM:309510
HP:0012469	Infantile spasms	170302	ARX	ORPHA:1934
HP:0012469	Infantile spasms	4535	MT-ND1	ORPHA:255210
HP:0012469	Infantile spasms	4536	MT-ND2	ORPHA:255210
HP:0012469	Infantile spasms	4537	MT-ND3	ORPHA:255210
HP:0012469	Infantile spasms	4538	MT-ND4	ORPHA:255210
HP:0012469	Infantile spasms	4567	MT-TL1	ORPHA:255210
HP:0012469	Infantile spasms	4578	MT-TW	ORPHA:255210
HP:0012469	Infantile spasms	4577	MT-TV	ORPHA:255210
HP:0012469	Infantile spasms	4508	MT-ATP6	ORPHA:255210
HP:0012469	Infantile spasms	4540	MT-ND5	ORPHA:255210
HP:0012469	Infantile spasms	4541	MT-ND6	ORPHA:255210
HP:0012469	Infantile spasms	4566	MT-TK	ORPHA:255210
HP:0012469	Infantile spasms	51412	ACTL6B	OMIM:618470
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:3095
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:505652
HP:0012469	Infantile spasms	6792	CDKL5	OMIM:300672
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:3451
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:1934
HP:0012469	Infantile spasms	22854	NTNG1	ORPHA:3095
HP:0012469	Infantile spasms	9568	GABBR2	ORPHA:3095
HP:0012469	Infantile spasms	9568	GABBR2	OMIM:617904
HP:0012469	Infantile spasms	4204	MECP2	ORPHA:3095
HP:0012469	Infantile spasms	26275	HIBCH	ORPHA:88639
HP:0012469	Infantile spasms	79868	ALG13	OMIM:300884
HP:0012469	Infantile spasms	79868	ALG13	ORPHA:324422
HP:0012469	Infantile spasms	51506	UFC1	OMIM:618076
HP:0012469	Infantile spasms	23030	KDM4B	OMIM:619320
HP:0012469	Infantile spasms	3745	KCNB1	OMIM:616056
HP:0012469	Infantile spasms	2782	GNB1	OMIM:616973
HP:0012469	Infantile spasms	7280	TUBB2A	OMIM:615763
HP:0012469	Infantile spasms	10565	ARFGEF1	OMIM:619964
HP:0012469	Infantile spasms	55768	NGLY1	ORPHA:404454
HP:0012469	Infantile spasms	23097	CDK19	OMIM:618916
HP:0012469	Infantile spasms	23499	MACF1	ORPHA:572013
HP:0012469	Infantile spasms	23499	MACF1	OMIM:618325
HP:0012469	Infantile spasms	387119	CEP85L	ORPHA:572013
HP:0012469	Infantile spasms	2192	FBLN1	ORPHA:404451
HP:0012469	Infantile spasms	427	ASAH1	ORPHA:333
HP:0012469	Infantile spasms	347733	TUBB2B	ORPHA:467166
HP:0012469	Infantile spasms	347733	TUBB2B	OMIM:610031
HP:0012469	Infantile spasms	7846	TUBA1A	ORPHA:467166
HP:0012469	Infantile spasms	7846	TUBA1A	ORPHA:171680
HP:0012469	Infantile spasms	10381	TUBB3	ORPHA:467166
HP:0012469	Infantile spasms	112939	NACC1	OMIM:617393
HP:0012469	Infantile spasms	7283	TUBG1	OMIM:615412
HP:0012469	Infantile spasms	79029	AFG2B	OMIM:619616
HP:0012469	Infantile spasms	9326	ZNHIT3	ORPHA:2836
HP:0012469	Infantile spasms	547	KIF1A	ORPHA:2836
HP:0012469	Infantile spasms	3054	HCFC1	OMIM:309541
HP:0012469	Infantile spasms	1183	CLCN4	ORPHA:485350
HP:0012469	Infantile spasms	686	BTD	ORPHA:79241
HP:0012469	Infantile spasms	9361	LONP1	ORPHA:79243
HP:0012469	Infantile spasms	5160	PDHA1	ORPHA:79243
HP:0012469	Infantile spasms	1000	CDH2	OMIM:618929
HP:0012469	Infantile spasms	128989	TANGO2	ORPHA:480864
HP:0012469	Infantile spasms	8131	NPRL3	ORPHA:98820
HP:0012469	Infantile spasms	10641	NPRL2	ORPHA:98820
HP:0012469	Infantile spasms	9681	DEPDC5	ORPHA:98820
HP:0012469	Infantile spasms	25930	PTPN23	OMIM:618890
HP:0012469	Infantile spasms	23327	NEDD4L	OMIM:617201
HP:0012469	Infantile spasms	4761	NEUROD2	OMIM:618374
HP:0012469	Infantile spasms	4761	NEUROD2	ORPHA:1934
HP:0012469	Infantile spasms	84896	ATAD1	OMIM:618011
HP:0012469	Infantile spasms	523	ATP6V1A	OMIM:618012
HP:0012469	Infantile spasms	55780	ERMARD	OMIM:615544
HP:0012469	Infantile spasms	56479	KCNQ5	OMIM:617601
HP:0012469	Infantile spasms	1641	DCX	ORPHA:2148
HP:0012469	Infantile spasms	284184	NDUFAF8	OMIM:618776
HP:0012469	Infantile spasms	23312	DMXL2	OMIM:618663
HP:0012469	Infantile spasms	23312	DMXL2	ORPHA:1934
HP:0012469	Infantile spasms	6711	SPTBN1	OMIM:619475
HP:0012469	Infantile spasms	7249	TSC2	OMIM:613254
HP:0012469	Infantile spasms	7249	TSC2	ORPHA:805
HP:0012469	Infantile spasms	3458	IFNG	OMIM:613254
HP:0012469	Infantile spasms	3458	IFNG	ORPHA:805
HP:0012469	Infantile spasms	8452	CUL3	OMIM:619239
HP:0012469	Infantile spasms	490	ATP2B1	OMIM:619910
HP:0012469	Infantile spasms	2073	ERCC5	OMIM:278780
HP:0012469	Infantile spasms	3098	HK1	OMIM:618547
HP:0012469	Infantile spasms	85440	DOCK7	ORPHA:411986
HP:0012469	Infantile spasms	85440	DOCK7	OMIM:615859
HP:0012469	Infantile spasms	9289	ADGRG1	ORPHA:98889
HP:0012469	Infantile spasms	5297	PI4KA	ORPHA:98889
HP:0012469	Infantile spasms	27286	SRPX2	ORPHA:98889
HP:0012469	Infantile spasms	80036	TRPM3	OMIM:620224
HP:0012469	Infantile spasms	85365	ALG2	ORPHA:79326
HP:0012469	Infantile spasms	85365	ALG2	OMIM:607906
HP:0012469	Infantile spasms	4247	MGAT2	ORPHA:79329
HP:0012469	Infantile spasms	728294	D2HGDH	OMIM:600721
HP:0012469	Infantile spasms	253959	RALGAPA1	OMIM:618797
HP:0012469	Infantile spasms	5594	MAPK1	OMIM:619087
HP:0012469	Infantile spasms	2566	GABRG2	OMIM:618396
HP:0012469	Infantile spasms	283989	TSEN54	ORPHA:2524
HP:0012469	Infantile spasms	116461	TSEN15	ORPHA:2524
HP:0012469	Infantile spasms	79042	TSEN34	ORPHA:2524
HP:0012469	Infantile spasms	80746	TSEN2	ORPHA:2524
HP:0012469	Infantile spasms	51091	SEPSECS	ORPHA:2524
HP:0012469	Infantile spasms	2904	GRIN2B	OMIM:616139
HP:0012469	Infantile spasms	2904	GRIN2B	ORPHA:3451
HP:0012469	Infantile spasms	10297	APC2	OMIM:618677
HP:0012469	Infantile spasms	7248	TSC1	OMIM:191100
HP:0012469	Infantile spasms	7248	TSC1	ORPHA:805
HP:0012469	Infantile spasms	112476	PRRT2	OMIM:128200
HP:0012469	Infantile spasms	112476	PRRT2	OMIM:602066
HP:0012469	Infantile spasms	221692	PHACTR1	ORPHA:3451
HP:0012469	Infantile spasms	6487	ST3GAL3	ORPHA:3451
HP:0012469	Infantile spasms	10695	CNPY3	ORPHA:3451
HP:0012469	Infantile spasms	23236	PLCB1	ORPHA:3451
HP:0012469	Infantile spasms	150094	SIK1	ORPHA:3451
HP:0012469	Infantile spasms	150094	SIK1	ORPHA:1935
HP:0012469	Infantile spasms	150094	SIK1	ORPHA:1934
HP:0012469	Infantile spasms	6709	SPTAN1	ORPHA:3451
HP:0012469	Infantile spasms	60558	GUF1	ORPHA:3451
HP:0012469	Infantile spasms	6326	SCN2A	ORPHA:3451
HP:0012469	Infantile spasms	6326	SCN2A	ORPHA:1934
HP:0012469	Infantile spasms	11152	WDR45	ORPHA:3451
HP:0012469	Infantile spasms	5277	PIGA	ORPHA:3451
HP:0012469	Infantile spasms	4915	NTRK2	ORPHA:3451
HP:0012469	Infantile spasms	1759	DNM1	OMIM:620352
HP:0012469	Infantile spasms	55739	NAXD	OMIM:618321
HP:0012469	Infantile spasms	2562	GABRB3	OMIM:617113
HP:0012469	Infantile spasms	55275	VPS53	OMIM:615851
HP:0012469	Infantile spasms	23219	FBXO28	OMIM:619777
HP:0012469	Infantile spasms	25974	MMACHC	ORPHA:79282
HP:0012469	Infantile spasms	1107	CHD3	OMIM:618205
HP:0012469	Infantile spasms	51294	PCDH12	OMIM:251280
HP:0012469	Infantile spasms	5048	PAFAH1B1	ORPHA:95232
HP:0012469	Infantile spasms	6509	SLC1A4	ORPHA:447997
HP:0012469	Infantile spasms	2801	GOLGA2	OMIM:620240
HP:0012469	Infantile spasms	80704	SLC19A3	ORPHA:263410
HP:0012469	Infantile spasms	51645	PPIL1	OMIM:619301
HP:0012469	Infantile spasms	1917	EEF1A2	OMIM:616393
HP:0012469	Infantile spasms	1468	SLC25A10	OMIM:618972
HP:0012469	Infantile spasms	51362	CDC40	OMIM:619302
HP:0012469	Infantile spasms	57647	DHX37	OMIM:618731
HP:0012469	Infantile spasms	1496	CTNNA2	OMIM:618174
HP:0012469	Infantile spasms	8803	SUCLA2	OMIM:612073
HP:0012469	Infantile spasms	8449	DHX16	OMIM:618733
HP:0012469	Infantile spasms	55753	OGDHL	OMIM:619701
HP:0012469	Infantile spasms	81603	TRIM8	OMIM:619428
HP:0012469	Infantile spasms	81603	TRIM8	ORPHA:1934
HP:0012469	Infantile spasms	11342	RNF13	ORPHA:544503
HP:0012469	Infantile spasms	79751	SLC25A22	ORPHA:1935
HP:0012469	Infantile spasms	79751	SLC25A22	ORPHA:1934
HP:0012469	Infantile spasms	3736	KCNA1	ORPHA:1934
HP:0012469	Infantile spasms	9091	PIGQ	ORPHA:1934
HP:0012469	Infantile spasms	2902	GRIN1	ORPHA:1934
HP:0012469	Infantile spasms	2902	GRIN1	ORPHA:208447
HP:0012469	Infantile spasms	8573	CASK	ORPHA:1934
HP:0012469	Infantile spasms	2917	GRM7	ORPHA:1934
HP:0012469	Infantile spasms	11284	PNKP	ORPHA:1934
HP:0012469	Infantile spasms	51227	PIGP	ORPHA:1934
HP:0012469	Infantile spasms	6324	SCN1B	ORPHA:1934
HP:0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	1280	COL2A1	OMIM:271700
HP:0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	9241	NOG	OMIM:186500
HP:0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	8200	GDF5	OMIM:615072
HP:0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	2122	MECOM	OMIM:616738
HP:0009413	Enlarged epiphyses of the 3rd finger	8200	GDF5	OMIM:113100
HP:0002250	Abnormal large intestine morphology	9361	LONP1	OMIM:600373
HP:0002250	Abnormal large intestine morphology	57167	SALL4	OMIM:147750
HP:0002250	Abnormal large intestine morphology	57167	SALL4	ORPHA:2307
HP:0002250	Abnormal large intestine morphology	92002	CCNQ	OMIM:300707
HP:0002250	Abnormal large intestine morphology	8195	MKKS	OMIM:236700
HP:0002250	Abnormal large intestine morphology	3110	MNX1	OMIM:176450
HP:0002250	Abnormal large intestine morphology	10653	SPINT2	OMIM:270420
HP:0002250	Abnormal large intestine morphology	84172	POLR1B	ORPHA:861
HP:0002250	Abnormal large intestine morphology	9533	POLR1C	ORPHA:861
HP:0002250	Abnormal large intestine morphology	51082	POLR1D	ORPHA:861
HP:0002250	Abnormal large intestine morphology	6949	TCOF1	ORPHA:861
HP:0002250	Abnormal large intestine morphology	9401	RECQL4	OMIM:218600
HP:0002250	Abnormal large intestine morphology	197131	UBR1	OMIM:243800
HP:0002250	Abnormal large intestine morphology	6299	SALL1	OMIM:107480
HP:0002250	Abnormal large intestine morphology	6299	SALL1	ORPHA:857
HP:0002250	Abnormal large intestine morphology	374654	KIF7	OMIM:200990
HP:0002250	Abnormal large intestine morphology	51339	DACT1	OMIM:617466
HP:0002250	Abnormal large intestine morphology	51339	DACT1	ORPHA:857
HP:0002250	Abnormal large intestine morphology	1642	DDB1	OMIM:619426
HP:0002250	Abnormal large intestine morphology	3718	JAK3	ORPHA:35078
HP:0002250	Abnormal large intestine morphology	158326	FREM1	OMIM:608980
HP:0002250	Abnormal large intestine morphology	55650	PIGV	OMIM:239300
HP:0002250	Abnormal large intestine morphology	1277	COL1A1	ORPHA:287
HP:0002250	Abnormal large intestine morphology	1289	COL5A1	ORPHA:287
HP:0002250	Abnormal large intestine morphology	1290	COL5A2	ORPHA:287
HP:0002250	Abnormal large intestine morphology	6197	RPS6KA3	OMIM:303600
HP:0002250	Abnormal large intestine morphology	3981	LIG4	ORPHA:235
HP:0002250	Abnormal large intestine morphology	54888	NSUN2	ORPHA:235
HP:0002250	Abnormal large intestine morphology	6804	STX1A	ORPHA:586
HP:0002250	Abnormal large intestine morphology	6804	STX1A	ORPHA:904
HP:0002250	Abnormal large intestine morphology	2947	GSTM3	ORPHA:586
HP:0002250	Abnormal large intestine morphology	7040	TGFB1	ORPHA:586
HP:0002250	Abnormal large intestine morphology	7040	TGFB1	OMIM:219700
HP:0002250	Abnormal large intestine morphology	2729	GCLC	ORPHA:586
HP:0002250	Abnormal large intestine morphology	1084	CEACAM3	ORPHA:586
HP:0002250	Abnormal large intestine morphology	6556	SLC11A1	ORPHA:586
HP:0002250	Abnormal large intestine morphology	51164	DCTN4	ORPHA:586
HP:0002250	Abnormal large intestine morphology	3783	KCNN4	ORPHA:586
HP:0002250	Abnormal large intestine morphology	4282	MIF	ORPHA:586
HP:0002250	Abnormal large intestine morphology	1909	EDNRA	ORPHA:586
HP:0002250	Abnormal large intestine morphology	3162	HMOX1	ORPHA:586
HP:0002250	Abnormal large intestine morphology	115019	SLC26A9	ORPHA:586
HP:0002250	Abnormal large intestine morphology	3077	HFE	ORPHA:586
HP:0002250	Abnormal large intestine morphology	11254	SLC6A14	ORPHA:586
HP:0002250	Abnormal large intestine morphology	5265	SERPINA1	ORPHA:586
HP:0002250	Abnormal large intestine morphology	1080	CFTR	ORPHA:586
HP:0002250	Abnormal large intestine morphology	1080	CFTR	OMIM:219700
HP:0002250	Abnormal large intestine morphology	22802	CLCA4	ORPHA:586
HP:0002250	Abnormal large intestine morphology	4680	CEACAM6	ORPHA:586
HP:0002250	Abnormal large intestine morphology	4629	MYH11	OMIM:619350
HP:0002250	Abnormal large intestine morphology	2212	FCGR2A	OMIM:219700
HP:0002250	Abnormal large intestine morphology	8260	NAA10	OMIM:309800
HP:0002250	Abnormal large intestine morphology	54880	BCOR	OMIM:309800
HP:0002250	Abnormal large intestine morphology	54496	PRMT7	OMIM:617157
HP:0002250	Abnormal large intestine morphology	4000	LMNA	OMIM:619793
HP:0002250	Abnormal large intestine morphology	8425	LTBP4	OMIM:613177
HP:0002250	Abnormal large intestine morphology	6794	STK11	ORPHA:2869
HP:0002250	Abnormal large intestine morphology	6794	STK11	OMIM:175200
HP:0002250	Abnormal large intestine morphology	7461	CLIP2	ORPHA:904
HP:0002250	Abnormal large intestine morphology	84277	DNAJC30	ORPHA:904
HP:0002250	Abnormal large intestine morphology	8468	FKBP6	ORPHA:904
HP:0002250	Abnormal large intestine morphology	5982	RFC2	ORPHA:904
HP:0002250	Abnormal large intestine morphology	2969	GTF2I	ORPHA:904
HP:0002250	Abnormal large intestine morphology	3984	LIMK1	ORPHA:904
HP:0002250	Abnormal large intestine morphology	9569	GTF2IRD1	ORPHA:904
HP:0002250	Abnormal large intestine morphology	155382	VPS37D	ORPHA:904
HP:0002250	Abnormal large intestine morphology	155368	METTL27	ORPHA:904
HP:0002250	Abnormal large intestine morphology	114049	BUD23	ORPHA:904
HP:0002250	Abnormal large intestine morphology	7458	EIF4H	ORPHA:904
HP:0002250	Abnormal large intestine morphology	84163	GTF2IRD2	ORPHA:904
HP:0002250	Abnormal large intestine morphology	9275	BCL7B	ORPHA:904
HP:0002250	Abnormal large intestine morphology	26608	TBL2	ORPHA:904
HP:0002250	Abnormal large intestine morphology	653361	NCF1	ORPHA:904
HP:0002250	Abnormal large intestine morphology	135886	TMEM270	ORPHA:904
HP:0002250	Abnormal large intestine morphology	51085	MLXIPL	ORPHA:904
HP:0002250	Abnormal large intestine morphology	51085	MLXIPL	OMIM:194050
HP:0002250	Abnormal large intestine morphology	9031	BAZ1B	ORPHA:904
HP:0002250	Abnormal large intestine morphology	2006	ELN	ORPHA:904
HP:0002250	Abnormal large intestine morphology	2006	ELN	OMIM:194050
HP:0002250	Abnormal large intestine morphology	147372	CCBE1	OMIM:235510
HP:0002250	Abnormal large intestine morphology	2165	F13B	ORPHA:331
HP:0002250	Abnormal large intestine morphology	2162	F13A1	ORPHA:331
HP:0002250	Abnormal large intestine morphology	3123	HLA-DRB1	OMIM:181000
HP:0002250	Abnormal large intestine morphology	7454	WAS	OMIM:301000
HP:0002250	Abnormal large intestine morphology	7454	WAS	ORPHA:906
HP:0002250	Abnormal large intestine morphology	10616	RBCK1	OMIM:615895
HP:0002250	Abnormal large intestine morphology	5243	ABCB1	OMIM:612244
HP:0002250	Abnormal large intestine morphology	6550	SLC9A3	OMIM:616868
HP:0002250	Abnormal large intestine morphology	7456	WIPF1	ORPHA:906
HP:0002250	Abnormal large intestine morphology	8737	RIPK1	OMIM:618108
HP:0002250	Abnormal large intestine morphology	4210	MEFV	ORPHA:3243
HP:0002250	Abnormal large intestine morphology	10095	ARPC1B	OMIM:617718
HP:0002250	Abnormal large intestine morphology	2542	SLC37A4	OMIM:232220
HP:0002250	Abnormal large intestine morphology	2542	SLC37A4	OMIM:232240
HP:0002250	Abnormal large intestine morphology	2542	SLC37A4	ORPHA:79259
HP:0002250	Abnormal large intestine morphology	3106	HLA-B	OMIM:106300
HP:0002250	Abnormal large intestine morphology	3106	HLA-B	ORPHA:29207
HP:0002250	Abnormal large intestine morphology	64127	NOD2	OMIM:266600
HP:0002250	Abnormal large intestine morphology	3569	IL6	OMIM:266600
HP:0002250	Abnormal large intestine morphology	57511	COG6	OMIM:614576
HP:0002250	Abnormal large intestine morphology	345611	IRGM	OMIM:612278
HP:0002250	Abnormal large intestine morphology	59067	IL21	OMIM:615767
HP:0002250	Abnormal large intestine morphology	64858	DCLRE1B	OMIM:620133
HP:0002250	Abnormal large intestine morphology	5297	PI4KA	OMIM:619708
HP:0002250	Abnormal large intestine morphology	79651	RHBDF2	ORPHA:2198
HP:0002250	Abnormal large intestine morphology	2065	ERBB3	OMIM:243180
HP:0002250	Abnormal large intestine morphology	1890	TYMP	OMIM:603041
HP:0002250	Abnormal large intestine morphology	5428	POLG	OMIM:603041
HP:0002250	Abnormal large intestine morphology	5310	PKD1	OMIM:173900
HP:0002250	Abnormal large intestine morphology	9051	PSTPIP1	OMIM:604416
HP:0002250	Abnormal large intestine morphology	355	FAS	ORPHA:3261
HP:0002250	Abnormal large intestine morphology	356	FASLG	ORPHA:3261
HP:0002250	Abnormal large intestine morphology	5580	PRKCD	ORPHA:3261
HP:0002250	Abnormal large intestine morphology	843	CASP10	ORPHA:3261
HP:0002250	Abnormal large intestine morphology	10125	RASGRP1	ORPHA:3261
HP:0002250	Abnormal large intestine morphology	51750	RTEL1	OMIM:615190
HP:0002250	Abnormal large intestine morphology	5422	POLA1	OMIM:301220
HP:0002250	Abnormal large intestine morphology	55612	FERMT1	ORPHA:2908
HP:0002250	Abnormal large intestine morphology	331	XIAP	OMIM:300635
HP:0002250	Abnormal large intestine morphology	7128	TNFAIP3	OMIM:616744
HP:0002250	Abnormal large intestine morphology	4261	CIITA	OMIM:209920
HP:0002250	Abnormal large intestine morphology	5994	RFXAP	OMIM:209920
HP:0002250	Abnormal large intestine morphology	5993	RFX5	OMIM:209920
HP:0002250	Abnormal large intestine morphology	8625	RFXANK	OMIM:209920
HP:0002250	Abnormal large intestine morphology	10625	IVNS1ABP	OMIM:618969
HP:0002250	Abnormal large intestine morphology	50943	FOXP3	ORPHA:37042
HP:0002250	Abnormal large intestine morphology	6499	SKIC2	OMIM:614602
HP:0002250	Abnormal large intestine morphology	6499	SKIC2	ORPHA:84064
HP:0002250	Abnormal large intestine morphology	3257	HPS1	OMIM:203300
HP:0002250	Abnormal large intestine morphology	987	LRBA	OMIM:614700
HP:0002250	Abnormal large intestine morphology	5293	PIK3CD	OMIM:619281
HP:0002250	Abnormal large intestine morphology	5551	PRF1	ORPHA:540
HP:0002250	Abnormal large intestine morphology	8676	STX11	ORPHA:540
HP:0002250	Abnormal large intestine morphology	201294	UNC13D	ORPHA:540
HP:0002250	Abnormal large intestine morphology	6813	STXBP2	ORPHA:540
HP:0002250	Abnormal large intestine morphology	6813	STXBP2	OMIM:613101
HP:0002250	Abnormal large intestine morphology	6850	SYK	OMIM:619381
HP:0002250	Abnormal large intestine morphology	2000	ELF4	OMIM:301074
HP:0002250	Abnormal large intestine morphology	8915	BCL10	OMIM:616098
HP:0002250	Abnormal large intestine morphology	23149	FCHO1	OMIM:619164
HP:0002250	Abnormal large intestine morphology	60468	BACH2	OMIM:618394
HP:0002250	Abnormal large intestine morphology	146206	CARMIL2	OMIM:618131
HP:0002250	Abnormal large intestine morphology	9652	SKIC3	ORPHA:84064
HP:0002250	Abnormal large intestine morphology	7535	ZAP70	OMIM:617006
HP:0002250	Abnormal large intestine morphology	7535	ZAP70	ORPHA:911
HP:0002250	Abnormal large intestine morphology	4689	NCF4	OMIM:613960
HP:0002250	Abnormal large intestine morphology	3587	IL10RA	OMIM:613148
HP:0002250	Abnormal large intestine morphology	5294	PIK3CG	OMIM:619802
HP:0002250	Abnormal large intestine morphology	338328	GPIHBP1	OMIM:615947
HP:0002250	Abnormal large intestine morphology	4436	MSH2	OMIM:158320
HP:0002250	Abnormal large intestine morphology	4436	MSH2	OMIM:619096
HP:0002250	Abnormal large intestine morphology	4436	MSH2	OMIM:120435
HP:0002250	Abnormal large intestine morphology	4436	MSH2	ORPHA:144
HP:0002250	Abnormal large intestine morphology	4436	MSH2	ORPHA:587
HP:0002250	Abnormal large intestine morphology	2956	MSH6	OMIM:619097
HP:0002250	Abnormal large intestine morphology	2956	MSH6	ORPHA:144
HP:0002250	Abnormal large intestine morphology	2956	MSH6	ORPHA:587
HP:0002250	Abnormal large intestine morphology	30011	SH3KBP1	OMIM:300310
HP:0002250	Abnormal large intestine morphology	716	C1S	OMIM:617174
HP:0002250	Abnormal large intestine morphology	5378	PMS1	OMIM:120435
HP:0002250	Abnormal large intestine morphology	5378	PMS1	ORPHA:144
HP:0002250	Abnormal large intestine morphology	4092	SMAD7	OMIM:612229
HP:0002250	Abnormal large intestine morphology	6223	RPS19	OMIM:105650
HP:0002250	Abnormal large intestine morphology	27030	MLH3	ORPHA:144
HP:0002250	Abnormal large intestine morphology	22909	FAN1	ORPHA:144
HP:0002250	Abnormal large intestine morphology	7048	TGFBR2	ORPHA:144
HP:0002250	Abnormal large intestine morphology	3845	KRAS	ORPHA:144
HP:0002250	Abnormal large intestine morphology	3845	KRAS	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	201163	FLCN	OMIM:135150
HP:0002250	Abnormal large intestine morphology	9184	BUB3	ORPHA:1052
HP:0002250	Abnormal large intestine morphology	699	BUB1	ORPHA:1052
HP:0002250	Abnormal large intestine morphology	9702	CEP57	ORPHA:1052
HP:0002250	Abnormal large intestine morphology	9319	TRIP13	ORPHA:1052
HP:0002250	Abnormal large intestine morphology	701	BUB1B	ORPHA:1052
HP:0002250	Abnormal large intestine morphology	672	BRCA1	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	285282	RABL3	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	675	BRCA2	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	79728	PALB2	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	23022	PALLD	ORPHA:1333
HP:0002250	Abnormal large intestine morphology	2304	FOXE1	ORPHA:319487
HP:0002250	Abnormal large intestine morphology	3026	HABP2	ORPHA:319487
HP:0002250	Abnormal large intestine morphology	9562	MINPP1	ORPHA:319487
HP:0002250	Abnormal large intestine morphology	58484	NLRC4	OMIM:616050
HP:0002250	Abnormal large intestine morphology	6772	STAT1	ORPHA:391487
HP:0002250	Abnormal large intestine morphology	10043	TOM1	ORPHA:391487
HP:0002250	Abnormal large intestine morphology	26873	OPLAH	OMIM:260005
HP:0002250	Abnormal large intestine morphology	5336	PLCG2	OMIM:614878
HP:0002250	Abnormal large intestine morphology	5979	RET	OMIM:142623
HP:0002250	Abnormal large intestine morphology	1991	ELANE	ORPHA:2686
HP:0002250	Abnormal large intestine morphology	2627	GATA6	OMIM:600001
HP:0002250	Abnormal large intestine morphology	2984	GUCY2C	OMIM:614665
HP:0002250	Abnormal large intestine morphology	10269	ZMPSTE24	ORPHA:1662
HP:0002250	Abnormal large intestine morphology	6663	SOX10	ORPHA:163746
HP:0002250	Abnormal large intestine morphology	25802	LMOD1	ORPHA:2241
HP:0002250	Abnormal large intestine morphology	25802	LMOD1	OMIM:619362
HP:0002250	Abnormal large intestine morphology	72	ACTG2	ORPHA:2241
HP:0002250	Abnormal large intestine morphology	72	ACTG2	OMIM:155310
HP:0002250	Abnormal large intestine morphology	72	ACTG2	OMIM:619431
HP:0002250	Abnormal large intestine morphology	4638	MYLK	ORPHA:2241
HP:0002250	Abnormal large intestine morphology	1174	AP1S1	OMIM:609313
HP:0002250	Abnormal large intestine morphology	7020	TFAP2A	OMIM:113620
HP:0002250	Abnormal large intestine morphology	9968	MED12	ORPHA:93932
HP:0002250	Abnormal large intestine morphology	25836	NIPBL	OMIM:122470
HP:0002250	Abnormal large intestine morphology	2317	FLNB	ORPHA:1190
HP:0002250	Abnormal large intestine morphology	1024	CDK8	OMIM:618748
HP:0002250	Abnormal large intestine morphology	4688	NCF2	OMIM:233710
HP:0002250	Abnormal large intestine morphology	81839	VANGL1	OMIM:600145
HP:0002250	Abnormal large intestine morphology	3507	IGHM	OMIM:601495
HP:0002250	Abnormal large intestine morphology	3689	ITGB2	OMIM:116920
HP:0002250	Abnormal large intestine morphology	1536	CYBB	OMIM:306400
HP:0002250	Abnormal large intestine morphology	1535	CYBA	OMIM:233690
HP:0002250	Abnormal large intestine morphology	5880	RAC2	OMIM:608203
HP:0002250	Abnormal large intestine morphology	4913	NTHL1	ORPHA:454840
HP:0002250	Abnormal large intestine morphology	4913	NTHL1	OMIM:616415
HP:0002250	Abnormal large intestine morphology	4089	SMAD4	ORPHA:329971
HP:0002250	Abnormal large intestine morphology	2022	ENG	ORPHA:329971
HP:0002250	Abnormal large intestine morphology	8930	MBD4	OMIM:619975
HP:0002250	Abnormal large intestine morphology	4292	MLH1	OMIM:276300
HP:0002250	Abnormal large intestine morphology	5395	PMS2	OMIM:619101
HP:0002250	Abnormal large intestine morphology	4072	EPCAM	OMIM:613244
HP:0002250	Abnormal large intestine morphology	6714	SRC	OMIM:114500
HP:0002250	Abnormal large intestine morphology	10395	DLC1	OMIM:114500
HP:0002250	Abnormal large intestine morphology	2033	EP300	OMIM:114500
HP:0002250	Abnormal large intestine morphology	5782	PTPN12	OMIM:114500
HP:0002250	Abnormal large intestine morphology	5320	PLA2G2A	OMIM:114500
HP:0002250	Abnormal large intestine morphology	6790	AURKA	OMIM:114500
HP:0002250	Abnormal large intestine morphology	1630	DCC	OMIM:114500
HP:0002250	Abnormal large intestine morphology	581	BAX	OMIM:114500
HP:0002250	Abnormal large intestine morphology	25788	RAD54B	OMIM:114500
HP:0002250	Abnormal large intestine morphology	595	CCND1	OMIM:114500
HP:0002250	Abnormal large intestine morphology	2261	FGFR3	OMIM:114500
HP:0002250	Abnormal large intestine morphology	7097	TLR2	OMIM:114500
HP:0002250	Abnormal large intestine morphology	4893	NRAS	OMIM:114500
HP:0002250	Abnormal large intestine morphology	1499	CTNNB1	OMIM:114500
HP:0002250	Abnormal large intestine morphology	4163	MCC	OMIM:114500
HP:0002250	Abnormal large intestine morphology	5157	PDGFRL	OMIM:114500
HP:0002250	Abnormal large intestine morphology	5795	PTPRJ	OMIM:114500
HP:0002250	Abnormal large intestine morphology	673	BRAF	OMIM:114500
HP:0002250	Abnormal large intestine morphology	81704	DOCK8	ORPHA:217390
HP:0002250	Abnormal large intestine morphology	1349	COX7B	OMIM:309801
HP:0002250	Abnormal large intestine morphology	3052	HCCS	OMIM:309801
HP:0002250	Abnormal large intestine morphology	54539	NDUFB11	OMIM:309801
HP:0002250	Abnormal large intestine morphology	341640	FREM2	OMIM:617666
HP:0002250	Abnormal large intestine morphology	5889	RAD51C	OMIM:613390
HP:0002250	Abnormal large intestine morphology	57217	TTC7A	OMIM:243150
HP:0002250	Abnormal large intestine morphology	26123	TCTN3	ORPHA:2753
HP:0002250	Abnormal large intestine morphology	55593	OTUD5	OMIM:301056
HP:0002250	Abnormal large intestine morphology	3643	INSR	ORPHA:508
HP:0002250	Abnormal large intestine morphology	23556	PIGN	ORPHA:280633
HP:0002250	Abnormal large intestine morphology	105371045	PERCC1	ORPHA:92050
HP:0002250	Abnormal large intestine morphology	267010	RNU12	OMIM:603116
HP:0002250	Abnormal large intestine morphology	4281	MID1	OMIM:300000
HP:0002250	Abnormal large intestine morphology	84433	CARD11	OMIM:617638
HP:0002250	Abnormal large intestine morphology	3716	JAK1	OMIM:618999
HP:0002250	Abnormal large intestine morphology	1493	CTLA4	OMIM:616100
HP:0002250	Abnormal large intestine morphology	8547	FCN3	OMIM:613860
HP:0002250	Abnormal large intestine morphology	2271	FH	OMIM:606812
HP:0002250	Abnormal large intestine morphology	37	ACADVL	OMIM:201475
HP:0002250	Abnormal large intestine morphology	84992	PIGY	OMIM:616809
HP:0002250	Abnormal large intestine morphology	50619	DEF6	OMIM:619573
HP:0002250	Abnormal large intestine morphology	3588	IL10RB	OMIM:612567
HP:0002250	Abnormal large intestine morphology	22900	CARD8	OMIM:619079
HP:0002250	Abnormal large intestine morphology	2859	GPR35	ORPHA:171
HP:0002250	Abnormal large intestine morphology	10507	SEMA4D	ORPHA:171
HP:0002250	Abnormal large intestine morphology	4485	MST1	ORPHA:171
HP:0002250	Abnormal large intestine morphology	6925	TCF4	ORPHA:171
HP:0002250	Abnormal large intestine morphology	6135	RPL11	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6138	RPL15	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6229	RPS24	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6125	RPL5	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6204	RPS10	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6165	RPL35A	ORPHA:124
HP:0002250	Abnormal large intestine morphology	2623	GATA1	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6232	RPS27	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6231	RPS26	ORPHA:124
HP:0002250	Abnormal large intestine morphology	11224	RPL35	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6160	RPL31	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6218	RPS17	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6201	RPS7	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6155	RPL27	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6154	RPL26	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6210	RPS15A	ORPHA:124
HP:0002250	Abnormal large intestine morphology	90121	TSR2	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6141	RPL18	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6235	RPS29	ORPHA:124
HP:0002250	Abnormal large intestine morphology	6234	RPS28	ORPHA:124
HP:0002250	Abnormal large intestine morphology	51816	ADA2	ORPHA:124
HP:0002250	Abnormal large intestine morphology	7373	COL14A1	ORPHA:79501
HP:0002250	Abnormal large intestine morphology	79719	AAGAB	ORPHA:79501
HP:0002250	Abnormal large intestine morphology	64218	SEMA4A	ORPHA:440437
HP:0002250	Abnormal large intestine morphology	6224	RPS20	ORPHA:440437
HP:0002250	Abnormal large intestine morphology	641	BLM	ORPHA:125
HP:0002250	Abnormal large intestine morphology	6389	SDHA	ORPHA:44890
HP:0002250	Abnormal large intestine morphology	5156	PDGFRA	ORPHA:44890
HP:0002250	Abnormal large intestine morphology	3815	KIT	ORPHA:44890
HP:0002250	Abnormal large intestine morphology	55765	INAVA	OMIM:618077
HP:0002250	Abnormal large intestine morphology	10747	MASP2	OMIM:613791
HP:0002250	Abnormal large intestine morphology	27178	IL37	OMIM:619398
HP:0002250	Abnormal large intestine morphology	79415	CYBC1	OMIM:618935
HP:0002250	Abnormal large intestine morphology	6885	MAP3K7	OMIM:617137
HP:0002250	Abnormal large intestine morphology	1794	DOCK2	OMIM:616433
HP:0002250	Abnormal large intestine morphology	5573	PRKAR1A	ORPHA:1359
HP:0002250	Abnormal large intestine morphology	50940	PDE11A	ORPHA:1359
HP:0002250	Abnormal large intestine morphology	10483	SEC23B	ORPHA:201
HP:0002250	Abnormal large intestine morphology	5728	PTEN	ORPHA:201
HP:0002250	Abnormal large intestine morphology	6390	SDHB	ORPHA:201
HP:0002250	Abnormal large intestine morphology	6392	SDHD	ORPHA:201
HP:0002250	Abnormal large intestine morphology	6391	SDHC	ORPHA:201
HP:0002250	Abnormal large intestine morphology	207	AKT1	ORPHA:201
HP:0002250	Abnormal large intestine morphology	205717	USF3	ORPHA:201
HP:0002250	Abnormal large intestine morphology	5290	PIK3CA	ORPHA:201
HP:0002250	Abnormal large intestine morphology	100144748	KLLN	ORPHA:201
HP:0002250	Abnormal large intestine morphology	8313	AXIN2	ORPHA:401911
HP:0002250	Abnormal large intestine morphology	5426	POLE	OMIM:615083
HP:0002250	Abnormal large intestine morphology	5426	POLE	ORPHA:447877
HP:0002250	Abnormal large intestine morphology	54894	RNF43	ORPHA:157798
HP:0002250	Abnormal large intestine morphology	5424	POLD1	OMIM:612591
HP:0002250	Abnormal large intestine morphology	5424	POLD1	ORPHA:447877
HP:0002250	Abnormal large intestine morphology	26585	GREM1	ORPHA:157794
HP:0002250	Abnormal large intestine morphology	657	BMPR1A	ORPHA:157794
HP:0002250	Abnormal large intestine morphology	4595	MUTYH	ORPHA:247798
HP:0002250	Abnormal large intestine morphology	324	APC	OMIM:135290
HP:0002250	Abnormal large intestine morphology	9817	KEAP1	ORPHA:276399
HP:0002250	Abnormal large intestine morphology	23405	DICER1	ORPHA:276399
HP:0002250	Abnormal large intestine morphology	4437	MSH3	ORPHA:480536
HP:0002250	Abnormal large intestine morphology	7157	TP53	ORPHA:524
HP:0002250	Abnormal large intestine morphology	1029	CDKN2A	ORPHA:524
HP:0002250	Abnormal large intestine morphology	4193	MDM2	ORPHA:524
HP:0002250	Abnormal large intestine morphology	11200	CHEK2	ORPHA:524
HP:0001397	Hepatic steatosis	10159	ATP6AP2	OMIM:301045
HP:0001397	Hepatic steatosis	3376	IARS1	OMIM:617093
HP:0001397	Hepatic steatosis	3376	IARS1	ORPHA:541423
HP:0001397	Hepatic steatosis	286053	NSMCE2	OMIM:617253
HP:0001397	Hepatic steatosis	286053	NSMCE2	ORPHA:436182
HP:0001397	Hepatic steatosis	30061	SLC40A1	ORPHA:139491
HP:0001397	Hepatic steatosis	30061	SLC40A1	OMIM:606069
HP:0001397	Hepatic steatosis	229	ALDOB	OMIM:229600
HP:0001397	Hepatic steatosis	3033	HADH	OMIM:231530
HP:0001397	Hepatic steatosis	3033	HADH	ORPHA:71212
HP:0001397	Hepatic steatosis	11020	IFT27	OMIM:615996
HP:0001397	Hepatic steatosis	132	ADK	OMIM:614300
HP:0001397	Hepatic steatosis	60684	TRAPPC11	OMIM:615356
HP:0001397	Hepatic steatosis	60684	TRAPPC11	ORPHA:369840
HP:0001397	Hepatic steatosis	1355	COX15	OMIM:615119
HP:0001397	Hepatic steatosis	63924	CIDEC	OMIM:615238
HP:0001397	Hepatic steatosis	63924	CIDEC	ORPHA:435651
HP:0001397	Hepatic steatosis	857	CAV1	OMIM:612526
HP:0001397	Hepatic steatosis	857	CAV1	ORPHA:528
HP:0001397	Hepatic steatosis	81570	CLPB	ORPHA:445038
HP:0001397	Hepatic steatosis	81570	CLPB	OMIM:616271
HP:0001397	Hepatic steatosis	51099	ABHD5	OMIM:275630
HP:0001397	Hepatic steatosis	51099	ABHD5	ORPHA:98907
HP:0001397	Hepatic steatosis	6718	AKR1D1	ORPHA:79303
HP:0001397	Hepatic steatosis	80222	TARS2	OMIM:615918
HP:0001397	Hepatic steatosis	26580	BSCL2	ORPHA:363400
HP:0001397	Hepatic steatosis	26580	BSCL2	OMIM:269700
HP:0001397	Hepatic steatosis	26580	BSCL2	ORPHA:528
HP:0001397	Hepatic steatosis	6341	SCO1	OMIM:619048
HP:0001397	Hepatic steatosis	4141	MARS1	OMIM:615486
HP:0001397	Hepatic steatosis	8882	ZPR1	OMIM:619321
HP:0001397	Hepatic steatosis	348	APOE	ORPHA:412
HP:0001397	Hepatic steatosis	10165	SLC25A13	OMIM:603471
HP:0001397	Hepatic steatosis	10165	SLC25A13	ORPHA:247598
HP:0001397	Hepatic steatosis	10165	SLC25A13	ORPHA:247585
HP:0001397	Hepatic steatosis	2542	SLC37A4	ORPHA:79259
HP:0001397	Hepatic steatosis	2542	SLC37A4	OMIM:619525
HP:0001397	Hepatic steatosis	3949	LDLR	ORPHA:391665
HP:0001397	Hepatic steatosis	255738	PCSK9	ORPHA:391665
HP:0001397	Hepatic steatosis	26119	LDLRAP1	ORPHA:391665
HP:0001397	Hepatic steatosis	338	APOB	ORPHA:391665
HP:0001397	Hepatic steatosis	64240	ABCG5	ORPHA:391665
HP:0001397	Hepatic steatosis	64241	ABCG8	ORPHA:391665
HP:0001397	Hepatic steatosis	60561	RINT1	OMIM:618641
HP:0001397	Hepatic steatosis	4358	MPV17	OMIM:618400
HP:0001397	Hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001397	Hepatic steatosis	537	ATP6AP1	OMIM:300972
HP:0001397	Hepatic steatosis	34	ACADM	OMIM:201450
HP:0001397	Hepatic steatosis	34	ACADM	ORPHA:42
HP:0001397	Hepatic steatosis	5105	PCK1	OMIM:261680
HP:0001397	Hepatic steatosis	50619	DEF6	OMIM:619573
HP:0001397	Hepatic steatosis	3988	LIPA	OMIM:278000
HP:0001397	Hepatic steatosis	26007	TKFC	OMIM:618805
HP:0001397	Hepatic steatosis	5468	PPARG	ORPHA:79083
HP:0001397	Hepatic steatosis	5468	PPARG	OMIM:604367
HP:0001397	Hepatic steatosis	5468	PPARG	ORPHA:528
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:79084
HP:0001397	Hepatic steatosis	4000	LMNA	OMIM:151660
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:79474
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:280365
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:2348
HP:0001397	Hepatic steatosis	208	AKT2	ORPHA:79085
HP:0001397	Hepatic steatosis	5346	PLIN1	OMIM:613877
HP:0001397	Hepatic steatosis	5346	PLIN1	ORPHA:280356
HP:0001397	Hepatic steatosis	84823	LMNB2	ORPHA:79087
HP:0001397	Hepatic steatosis	84823	LMNB2	OMIM:608709
HP:0001397	Hepatic steatosis	7840	ALMS1	OMIM:203800
HP:0001397	Hepatic steatosis	7840	ALMS1	ORPHA:64
HP:0001397	Hepatic steatosis	1581	CYP7A1	ORPHA:209902
HP:0001397	Hepatic steatosis	1716	DGUOK	OMIM:251880
HP:0001397	Hepatic steatosis	10555	AGPAT2	OMIM:608594
HP:0001397	Hepatic steatosis	10555	AGPAT2	ORPHA:528
HP:0001397	Hepatic steatosis	1717	DHCR7	OMIM:270400
HP:0001397	Hepatic steatosis	4547	MTTP	ORPHA:14
HP:0001397	Hepatic steatosis	6899	TBX1	OMIM:188400
HP:0001397	Hepatic steatosis	5424	POLD1	OMIM:615381
HP:0001397	Hepatic steatosis	8802	SUCLG1	ORPHA:17
HP:0001397	Hepatic steatosis	84984	CEP19	OMIM:615703
HP:0001397	Hepatic steatosis	2783	GNB2	OMIM:619503
HP:0001397	Hepatic steatosis	28976	ACAD9	ORPHA:99901
HP:0001397	Hepatic steatosis	5373	PMM2	OMIM:212065
HP:0001397	Hepatic steatosis	1588	CYP19A1	ORPHA:91
HP:0001397	Hepatic steatosis	37	ACADVL	OMIM:201475
HP:0001397	Hepatic steatosis	54914	FOCAD	OMIM:619991
HP:0001397	Hepatic steatosis	11222	MRPL3	OMIM:614582
HP:0001397	Hepatic steatosis	6711	SPTBN1	OMIM:619475
HP:0001397	Hepatic steatosis	3991	LIPE	ORPHA:435660
HP:0001397	Hepatic steatosis	3991	LIPE	OMIM:615980
HP:0001397	Hepatic steatosis	5566	PRKACA	ORPHA:189439
HP:0001397	Hepatic steatosis	8622	PDE8B	ORPHA:189439
HP:0001397	Hepatic steatosis	5573	PRKAR1A	ORPHA:189439
HP:0001397	Hepatic steatosis	50940	PDE11A	ORPHA:189439
HP:0001397	Hepatic steatosis	51520	LARS1	OMIM:615438
HP:0001397	Hepatic steatosis	788	SLC25A20	OMIM:212138
HP:0001397	Hepatic steatosis	540	ATP7B	ORPHA:905
HP:0001397	Hepatic steatosis	540	ATP7B	OMIM:277900
HP:0001397	Hepatic steatosis	5590	PRKCZ	ORPHA:1606
HP:0001397	Hepatic steatosis	2563	GABRD	ORPHA:1606
HP:0001397	Hepatic steatosis	23013	SPEN	ORPHA:1606
HP:0001397	Hepatic steatosis	8510	MMP23B	ORPHA:1606
HP:0001397	Hepatic steatosis	7798	LUZP1	ORPHA:1606
HP:0001397	Hepatic steatosis	6497	SKI	ORPHA:1606
HP:0001397	Hepatic steatosis	10630	PDPN	ORPHA:1606
HP:0001397	Hepatic steatosis	3339	HSPG2	ORPHA:1606
HP:0001397	Hepatic steatosis	10277	UBE4B	ORPHA:1606
HP:0001397	Hepatic steatosis	8514	KCNAB2	ORPHA:1606
HP:0001397	Hepatic steatosis	473	RERE	ORPHA:1606
HP:0001397	Hepatic steatosis	63976	PRDM16	ORPHA:1606
HP:0001397	Hepatic steatosis	54897	CASZ1	ORPHA:1606
HP:0001397	Hepatic steatosis	10056	FARSB	OMIM:613658
HP:0001397	Hepatic steatosis	6928	HNF1B	ORPHA:93111
HP:0001397	Hepatic steatosis	10128	LRPPRC	ORPHA:70472
HP:0001397	Hepatic steatosis	2203	FBP1	ORPHA:348
HP:0001397	Hepatic steatosis	100147744	RNU7-1	OMIM:619487
HP:0001397	Hepatic steatosis	5106	PCK2	OMIM:261650
HP:0001397	Hepatic steatosis	79798	ARMC5	ORPHA:189427
HP:0001397	Hepatic steatosis	2778	GNAS	ORPHA:189427
HP:0001397	Hepatic steatosis	641	BLM	OMIM:210900
HP:0001397	Hepatic steatosis	64135	IFIH1	OMIM:615846
HP:0001397	Hepatic steatosis	7518	XRCC4	ORPHA:436182
HP:0001397	Hepatic steatosis	51128	SAR1B	ORPHA:71
HP:0001397	Hepatic steatosis	11128	POLR3A	ORPHA:3455
HP:0001397	Hepatic steatosis	617	BCS1L	OMIM:124000
HP:0001397	Hepatic steatosis	617	BCS1L	ORPHA:53693
HP:0001397	Hepatic steatosis	3178	HNRNPA1	ORPHA:52430
HP:0001397	Hepatic steatosis	7415	VCP	ORPHA:52430
HP:0001397	Hepatic steatosis	3181	HNRNPA2B1	ORPHA:52430
HP:0001397	Hepatic steatosis	57104	PNPLA2	OMIM:610717
HP:0001397	Hepatic steatosis	57104	PNPLA2	ORPHA:98908
HP:0001397	Hepatic steatosis	1650	DDOST	ORPHA:300536
HP:0001397	Hepatic steatosis	51651	PTRH2	OMIM:616263
HP:0001397	Hepatic steatosis	2819	GPD1	OMIM:614480
HP:0001397	Hepatic steatosis	51081	MRPS7	OMIM:617872
HP:0001397	Hepatic steatosis	2193	FARSA	OMIM:619013
HP:0001397	Hepatic steatosis	8565	YARS1	OMIM:619418
HP:0001397	Hepatic steatosis	1374	CPT1A	OMIM:255120
HP:0001397	Hepatic steatosis	5236	PGM1	OMIM:614921
HP:0001397	Hepatic steatosis	55005	RMND1	OMIM:614922
HP:0001397	Hepatic steatosis	3295	HSD17B4	OMIM:261515
HP:0001397	Hepatic steatosis	9757	KMT2B	OMIM:619934
HP:0001397	Hepatic steatosis	147007	TMEM199	OMIM:616829
HP:0001397	Hepatic steatosis	875	CBS	OMIM:236200
HP:0001397	Hepatic steatosis	1376	CPT2	ORPHA:228305
HP:0001397	Hepatic steatosis	1376	CPT2	ORPHA:228308
HP:0001397	Hepatic steatosis	284119	CAVIN1	ORPHA:528
HP:0001397	Hepatic steatosis	284119	CAVIN1	OMIM:613327
HP:0001397	Hepatic steatosis	2353	FOS	ORPHA:528
HP:0001397	Hepatic steatosis	8813	DPM1	ORPHA:79322
HP:0001397	Hepatic steatosis	9054	NFS1	OMIM:619386
HP:0001397	Hepatic steatosis	5256	PHKA2	ORPHA:264580
HP:0001397	Hepatic steatosis	5261	PHKG2	ORPHA:264580
HP:0001397	Hepatic steatosis	35	ACADS	ORPHA:26792
HP:0001397	Hepatic steatosis	2108	ETFA	OMIM:231680
HP:0001397	Hepatic steatosis	2109	ETFB	OMIM:231680
HP:0001397	Hepatic steatosis	2110	ETFDH	OMIM:231680
HP:0001397	Hepatic steatosis	5428	POLG	ORPHA:298
HP:0001397	Hepatic steatosis	1890	TYMP	ORPHA:298
HP:0001397	Hepatic steatosis	3980	LIG3	ORPHA:298
HP:0001397	Hepatic steatosis	50484	RRM2B	ORPHA:298
HP:0001397	Hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001397	Hepatic steatosis	51103	NDUFAF1	OMIM:618234
HP:0001397	Hepatic steatosis	10651	MTX2	OMIM:619127
HP:0001397	Hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001397	Hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001397	Hepatic steatosis	125988	MICOS13	OMIM:618329
HP:0001397	Hepatic steatosis	65082	VPS33A	OMIM:617303
HP:0001397	Hepatic steatosis	1794	DOCK2	OMIM:616433
HP:0001397	Hepatic steatosis	124454	EARS2	OMIM:614924
HP:0001397	Hepatic steatosis	27183	VPS4A	OMIM:619273
HP:0001397	Hepatic steatosis	55898	UNC45A	OMIM:619377
HP:0001397	Hepatic steatosis	374354	NHLRC2	OMIM:618278
HP:0001397	Hepatic steatosis	5277	PIGA	OMIM:300868
HP:0001397	Hepatic steatosis	65080	MRPL44	OMIM:615395
HP:0001397	Hepatic steatosis	79587	CARS2	OMIM:616672
HP:0001397	Hepatic steatosis	7019	TFAM	OMIM:617156
HP:0001397	Hepatic steatosis	11232	POLG2	OMIM:618528
HP:0001397	Hepatic steatosis	131118	DNAJC19	OMIM:610198
HP:0001397	Hepatic steatosis	131118	DNAJC19	ORPHA:66634
HP:0001397	Hepatic steatosis	55768	NGLY1	ORPHA:404454
HP:0001397	Hepatic steatosis	6584	SLC22A5	OMIM:212140
HP:0001397	Hepatic steatosis	51	ACOX1	OMIM:264470
HP:0001397	Hepatic steatosis	84334	COA8	ORPHA:436271
HP:0001397	Hepatic steatosis	3032	HADHB	ORPHA:746
HP:0001397	Hepatic steatosis	3030	HADHA	ORPHA:746
HP:0001397	Hepatic steatosis	56922	MCCC1	OMIM:210200
HP:0002253	Colonic diverticula	4292	MLH1	OMIM:158320
HP:0002253	Colonic diverticula	4436	MSH2	OMIM:158320
HP:0002253	Colonic diverticula	5979	RET	OMIM:162300
HP:0002253	Colonic diverticula	5290	PIK3CA	OMIM:615108
HP:0002253	Colonic diverticula	207	AKT1	OMIM:615109
HP:0002253	Colonic diverticula	5728	PTEN	OMIM:158350
HP:0002253	Colonic diverticula	6804	STX1A	ORPHA:904
HP:0002253	Colonic diverticula	7461	CLIP2	ORPHA:904
HP:0002253	Colonic diverticula	84277	DNAJC30	ORPHA:904
HP:0002253	Colonic diverticula	8468	FKBP6	ORPHA:904
HP:0002253	Colonic diverticula	5982	RFC2	ORPHA:904
HP:0002253	Colonic diverticula	2969	GTF2I	ORPHA:904
HP:0002253	Colonic diverticula	3984	LIMK1	ORPHA:904
HP:0002253	Colonic diverticula	9569	GTF2IRD1	ORPHA:904
HP:0002253	Colonic diverticula	155382	VPS37D	ORPHA:904
HP:0002253	Colonic diverticula	155368	METTL27	ORPHA:904
HP:0002253	Colonic diverticula	114049	BUD23	ORPHA:904
HP:0002253	Colonic diverticula	7458	EIF4H	ORPHA:904
HP:0002253	Colonic diverticula	84163	GTF2IRD2	ORPHA:904
HP:0002253	Colonic diverticula	9275	BCL7B	ORPHA:904
HP:0002253	Colonic diverticula	26608	TBL2	ORPHA:904
HP:0002253	Colonic diverticula	653361	NCF1	ORPHA:904
HP:0002253	Colonic diverticula	135886	TMEM270	ORPHA:904
HP:0002253	Colonic diverticula	51085	MLXIPL	ORPHA:904
HP:0002253	Colonic diverticula	51085	MLXIPL	OMIM:194050
HP:0002253	Colonic diverticula	9031	BAZ1B	ORPHA:904
HP:0002253	Colonic diverticula	2006	ELN	ORPHA:904
HP:0002253	Colonic diverticula	2006	ELN	OMIM:194050
HP:0002253	Colonic diverticula	197131	UBR1	OMIM:243800
HP:0002253	Colonic diverticula	2065	ERBB3	OMIM:243180
HP:0002253	Colonic diverticula	1890	TYMP	OMIM:603041
HP:0002253	Colonic diverticula	5428	POLG	OMIM:603041
HP:0002253	Colonic diverticula	5310	PKD1	OMIM:173900
HP:0002254	Intermittent diarrhea	11011	TLK2	OMIM:618050
HP:0002254	Intermittent diarrhea	197322	ACSF3	ORPHA:289504
HP:0002254	Intermittent diarrhea	25839	COG4	ORPHA:263501
HP:0002254	Intermittent diarrhea	1616	DAXX	ORPHA:100075
HP:0002254	Intermittent diarrhea	546	ATRX	ORPHA:100075
HP:0002254	Intermittent diarrhea	535	ATP6V0A1	OMIM:619971
HP:0002254	Intermittent diarrhea	57169	ZNFX1	OMIM:619644
HP:0002254	Intermittent diarrhea	672	BRCA1	ORPHA:1333
HP:0002254	Intermittent diarrhea	285282	RABL3	ORPHA:1333
HP:0002254	Intermittent diarrhea	7157	TP53	ORPHA:1333
HP:0002254	Intermittent diarrhea	675	BRCA2	ORPHA:1333
HP:0002254	Intermittent diarrhea	3845	KRAS	ORPHA:1333
HP:0002254	Intermittent diarrhea	1029	CDKN2A	ORPHA:1333
HP:0002254	Intermittent diarrhea	79728	PALB2	ORPHA:1333
HP:0002254	Intermittent diarrhea	4089	SMAD4	ORPHA:1333
HP:0002254	Intermittent diarrhea	23022	PALLD	ORPHA:1333
HP:0002254	Intermittent diarrhea	2538	G6PC1	OMIM:232200
HP:0002254	Intermittent diarrhea	1794	DOCK2	OMIM:616433
HP:0002254	Intermittent diarrhea	2627	GATA6	ORPHA:2255
HP:0002254	Intermittent diarrhea	1890	TYMP	OMIM:603041
HP:0002254	Intermittent diarrhea	5428	POLG	OMIM:603041
HP:0002573	Hematochezia	94	ACVRL1	OMIM:600376
HP:0002573	Hematochezia	83483	PLVAP	OMIM:618183
HP:0002573	Hematochezia	2022	ENG	OMIM:187300
HP:0002573	Hematochezia	2022	ENG	ORPHA:329971
HP:0002573	Hematochezia	57551	TAOK1	OMIM:619575
HP:0002573	Hematochezia	57217	TTC7A	OMIM:243150
HP:0002573	Hematochezia	4089	SMAD4	OMIM:174900
HP:0002573	Hematochezia	4089	SMAD4	ORPHA:329971
HP:0002573	Hematochezia	4089	SMAD4	OMIM:175050
HP:0002573	Hematochezia	657	BMPR1A	OMIM:174900
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:157794
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:329971
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:79076
HP:0002573	Hematochezia	26585	GREM1	ORPHA:157794
HP:0002573	Hematochezia	10616	RBCK1	OMIM:615895
HP:0002573	Hematochezia	3257	HPS1	OMIM:203300
HP:0002573	Hematochezia	324	APC	ORPHA:99818
HP:0002573	Hematochezia	7454	WAS	ORPHA:906
HP:0002573	Hematochezia	7456	WIPF1	ORPHA:906
HP:0002573	Hematochezia	9420	CYP7B1	OMIM:613812
HP:0002573	Hematochezia	23600	AMACR	OMIM:214950
HP:0002573	Hematochezia	23600	AMACR	ORPHA:79095
HP:0002573	Hematochezia	10095	ARPC1B	OMIM:617718
HP:0002573	Hematochezia	2153	F5	ORPHA:326
HP:0002573	Hematochezia	64135	IFIH1	OMIM:615846
HP:0002573	Hematochezia	3587	IL10RA	OMIM:613148
HP:0002573	Hematochezia	5728	PTEN	ORPHA:79076
HP:0002256	Small bowel diverticula	2006	ELN	ORPHA:90348
HP:0002256	Small bowel diverticula	10516	FBLN5	ORPHA:90348
HP:0002256	Small bowel diverticula	10516	FBLN5	ORPHA:90349
HP:0002256	Small bowel diverticula	5832	ALDH18A1	ORPHA:90348
HP:0002256	Small bowel diverticula	4052	LTBP1	ORPHA:90349
HP:0002256	Small bowel diverticula	30008	EFEMP2	ORPHA:90349
HP:0002257	Chronic rhinitis	27019	DNAI1	OMIM:244400
HP:0002257	Chronic rhinitis	27019	DNAI1	ORPHA:244
HP:0002257	Chronic rhinitis	374407	DNAJB13	OMIM:617091
HP:0002257	Chronic rhinitis	374407	DNAJB13	ORPHA:244
HP:0002257	Chronic rhinitis	83538	ODAD4	OMIM:617092
HP:0002257	Chronic rhinitis	83538	ODAD4	ORPHA:244
HP:0002257	Chronic rhinitis	1770	DNAH9	OMIM:618300
HP:0002257	Chronic rhinitis	1770	DNAH9	ORPHA:244
HP:0002257	Chronic rhinitis	83861	RSPH3	OMIM:616481
HP:0002257	Chronic rhinitis	83861	RSPH3	ORPHA:244
HP:0002257	Chronic rhinitis	55130	ODAD2	OMIM:615451
HP:0002257	Chronic rhinitis	55130	ODAD2	ORPHA:244
HP:0002257	Chronic rhinitis	25981	DNAH1	OMIM:617577
HP:0002257	Chronic rhinitis	25981	DNAH1	ORPHA:244
HP:0002257	Chronic rhinitis	2622	GAS8	OMIM:616726
HP:0002257	Chronic rhinitis	2622	GAS8	ORPHA:244
HP:0002257	Chronic rhinitis	64446	DNAI2	OMIM:612444
HP:0002257	Chronic rhinitis	64446	DNAI2	ORPHA:244
HP:0002257	Chronic rhinitis	54970	TTC12	OMIM:618801
HP:0002257	Chronic rhinitis	54970	TTC12	ORPHA:244
HP:0002257	Chronic rhinitis	54440	SASH3	OMIM:301082
HP:0002257	Chronic rhinitis	345895	RSPH4A	OMIM:612649
HP:0002257	Chronic rhinitis	345895	RSPH4A	ORPHA:244
HP:0002257	Chronic rhinitis	79087	ALG12	ORPHA:79324
HP:0002257	Chronic rhinitis	10312	TCIRG1	ORPHA:667
HP:0002257	Chronic rhinitis	1186	CLCN7	ORPHA:667
HP:0002257	Chronic rhinitis	29887	SNX10	ORPHA:667
HP:0002257	Chronic rhinitis	8600	TNFSF11	ORPHA:667
HP:0002257	Chronic rhinitis	115948	ODAD3	ORPHA:244
HP:0002257	Chronic rhinitis	54768	HYDIN	ORPHA:244
HP:0002257	Chronic rhinitis	54768	HYDIN	OMIM:608647
HP:0002257	Chronic rhinitis	352909	DNAAF3	ORPHA:244
HP:0002257	Chronic rhinitis	27148	STK36	ORPHA:244
HP:0002257	Chronic rhinitis	51314	NME8	ORPHA:244
HP:0002257	Chronic rhinitis	92749	DRC1	ORPHA:244
HP:0002257	Chronic rhinitis	152110	NEK10	ORPHA:244
HP:0002257	Chronic rhinitis	8481	OFD1	ORPHA:244
HP:0002257	Chronic rhinitis	2302	FOXJ1	ORPHA:244
HP:0002257	Chronic rhinitis	2302	FOXJ1	OMIM:618699
HP:0002257	Chronic rhinitis	221421	RSPH9	ORPHA:244
HP:0002257	Chronic rhinitis	221421	RSPH9	OMIM:612650
HP:0002257	Chronic rhinitis	85478	CCDC65	ORPHA:244
HP:0002257	Chronic rhinitis	55036	CCDC40	ORPHA:244
HP:0002257	Chronic rhinitis	51364	ZMYND10	ORPHA:244
HP:0002257	Chronic rhinitis	6674	SPAG1	ORPHA:244
HP:0002257	Chronic rhinitis	83544	DNAL1	ORPHA:244
HP:0002257	Chronic rhinitis	83544	DNAL1	OMIM:614017
HP:0002257	Chronic rhinitis	89765	RSPH1	ORPHA:244
HP:0002257	Chronic rhinitis	89765	RSPH1	OMIM:615481
HP:0002257	Chronic rhinitis	200373	CFAP221	ORPHA:244
HP:0002257	Chronic rhinitis	55172	DNAAF2	ORPHA:244
HP:0002257	Chronic rhinitis	161582	DNAAF4	ORPHA:244
HP:0002257	Chronic rhinitis	161582	DNAAF4	OMIM:615482
HP:0002257	Chronic rhinitis	23639	DNAAF11	ORPHA:244
HP:0002257	Chronic rhinitis	54919	DNAAF5	ORPHA:244
HP:0002257	Chronic rhinitis	6103	RPGR	ORPHA:244
HP:0002257	Chronic rhinitis	388389	CCDC103	ORPHA:244
HP:0002257	Chronic rhinitis	388389	CCDC103	OMIM:614679
HP:0002257	Chronic rhinitis	93233	ODAD1	ORPHA:244
HP:0002257	Chronic rhinitis	1767	DNAH5	ORPHA:244
HP:0002257	Chronic rhinitis	345643	MCIDAS	ORPHA:244
HP:0002257	Chronic rhinitis	345643	MCIDAS	OMIM:618695
HP:0002257	Chronic rhinitis	56683	CFAP298	ORPHA:244
HP:0002257	Chronic rhinitis	79925	SPEF2	ORPHA:244
HP:0002257	Chronic rhinitis	10309	CCNO	ORPHA:244
HP:0002257	Chronic rhinitis	115399	LRRC56	ORPHA:244
HP:0002257	Chronic rhinitis	139212	DNAAF6	ORPHA:244
HP:0002257	Chronic rhinitis	123872	DNAAF1	ORPHA:244
HP:0002257	Chronic rhinitis	85016	CFAP300	ORPHA:244
HP:0002257	Chronic rhinitis	339829	CCDC39	ORPHA:244
HP:0002257	Chronic rhinitis	8701	DNAH11	ORPHA:244
HP:0002257	Chronic rhinitis	8701	DNAH11	OMIM:611884
HP:0002257	Chronic rhinitis	246176	GAS2L2	ORPHA:244
HP:0002257	Chronic rhinitis	22861	NLRP1	OMIM:615225
HP:0002257	Chronic rhinitis	11005	SPINK5	OMIM:256500
HP:0002257	Chronic rhinitis	55315	SLC29A3	ORPHA:168569
HP:0002257	Chronic rhinitis	5896	RAG1	OMIM:601457
HP:0002257	Chronic rhinitis	5897	RAG2	OMIM:601457
HP:0000248	Brachycephaly	9401	RECQL4	OMIM:218600
HP:0000248	Brachycephaly	9401	RECQL4	ORPHA:1225
HP:0000248	Brachycephaly	6497	SKI	OMIM:182212
HP:0000248	Brachycephaly	2263	FGFR2	ORPHA:87
HP:0000248	Brachycephaly	2263	FGFR2	ORPHA:93260
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:101600
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:101200
HP:0000248	Brachycephaly	6857	SYT1	ORPHA:522077
HP:0000248	Brachycephaly	2260	FGFR1	OMIM:101600
HP:0000248	Brachycephaly	2273	FHL1	OMIM:300280
HP:0000248	Brachycephaly	5189	PEX1	OMIM:214100
HP:0000248	Brachycephaly	121340	SP7	OMIM:613849
HP:0000248	Brachycephaly	56975	FAM20C	OMIM:259775
HP:0000248	Brachycephaly	5573	PRKAR1A	ORPHA:950
HP:0000248	Brachycephaly	5573	PRKAR1A	OMIM:101800
HP:0000248	Brachycephaly	5144	PDE4D	ORPHA:950
HP:0000248	Brachycephaly	5144	PDE4D	ORPHA:439822
HP:0000248	Brachycephaly	8243	SMC1A	OMIM:300590
HP:0000248	Brachycephaly	8243	SMC1A	ORPHA:199
HP:0000248	Brachycephaly	2294	FOXF1	OMIM:265380
HP:0000248	Brachycephaly	2218	FKTN	ORPHA:272
HP:0000248	Brachycephaly	158	ADSL	OMIM:103050
HP:0000248	Brachycephaly	158	ADSL	ORPHA:46
HP:0000248	Brachycephaly	23394	ADNP	ORPHA:404448
HP:0000248	Brachycephaly	8367	H4C5	OMIM:619950
HP:0000248	Brachycephaly	104	ADARB1	OMIM:618862
HP:0000248	Brachycephaly	4750	NEK1	OMIM:263520
HP:0000248	Brachycephaly	55503	TRPV6	OMIM:618188
HP:0000248	Brachycephaly	1947	EFNB1	ORPHA:1520
HP:0000248	Brachycephaly	1947	EFNB1	OMIM:304110
HP:0000248	Brachycephaly	5885	RAD21	OMIM:614701
HP:0000248	Brachycephaly	5885	RAD21	ORPHA:199
HP:0000248	Brachycephaly	145173	B3GLCT	ORPHA:709
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:53271
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:93262
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:35099
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:794
HP:0000248	Brachycephaly	2261	FGFR3	OMIM:612247
HP:0000248	Brachycephaly	2261	FGFR3	OMIM:602849
HP:0000248	Brachycephaly	7518	XRCC4	ORPHA:99812
HP:0000248	Brachycephaly	3981	LIG4	ORPHA:99812
HP:0000248	Brachycephaly	3981	LIG4	OMIM:606593
HP:0000248	Brachycephaly	55777	MBD5	ORPHA:228402
HP:0000248	Brachycephaly	55777	MBD5	OMIM:156200
HP:0000248	Brachycephaly	23126	POGZ	ORPHA:468678
HP:0000248	Brachycephaly	23126	POGZ	OMIM:616364
HP:0000248	Brachycephaly	10084	PQBP1	ORPHA:93950
HP:0000248	Brachycephaly	10084	PQBP1	OMIM:309500
HP:0000248	Brachycephaly	55209	SETD5	ORPHA:404440
HP:0000248	Brachycephaly	55209	SETD5	OMIM:615761
HP:0000248	Brachycephaly	5447	POR	ORPHA:95699
HP:0000248	Brachycephaly	5447	POR	OMIM:201750
HP:0000248	Brachycephaly	5447	POR	OMIM:207410
HP:0000248	Brachycephaly	4125	MAN2B1	ORPHA:309282
HP:0000248	Brachycephaly	267010	RNU12	OMIM:603116
HP:0000248	Brachycephaly	3021	H3-3B	OMIM:619721
HP:0000248	Brachycephaly	89910	UBE3B	OMIM:244450
HP:0000248	Brachycephaly	89910	UBE3B	ORPHA:2707
HP:0000248	Brachycephaly	4010	LMX1B	ORPHA:495818
HP:0000248	Brachycephaly	6812	STXBP1	ORPHA:495818
HP:0000248	Brachycephaly	2201	FBN2	OMIM:121050
HP:0000248	Brachycephaly	2314	FLII	ORPHA:819
HP:0000248	Brachycephaly	23096	IQSEC2	ORPHA:819
HP:0000248	Brachycephaly	23096	IQSEC2	OMIM:309530
HP:0000248	Brachycephaly	10743	RAI1	ORPHA:819
HP:0000248	Brachycephaly	10743	RAI1	OMIM:182290
HP:0000248	Brachycephaly	10522	DEAF1	ORPHA:819
HP:0000248	Brachycephaly	10522	DEAF1	OMIM:615828
HP:0000248	Brachycephaly	25782	RAB3GAP2	OMIM:212720
HP:0000248	Brachycephaly	25782	RAB3GAP2	ORPHA:1387
HP:0000248	Brachycephaly	25782	RAB3GAP2	OMIM:614225
HP:0000248	Brachycephaly	23384	SPECC1L	ORPHA:1519
HP:0000248	Brachycephaly	6023	RMRP	ORPHA:175
HP:0000248	Brachycephaly	6023	RMRP	OMIM:250250
HP:0000248	Brachycephaly	84992	PIGY	ORPHA:247262
HP:0000248	Brachycephaly	84720	PIGO	ORPHA:247262
HP:0000248	Brachycephaly	93210	PGAP3	ORPHA:247262
HP:0000248	Brachycephaly	284098	PIGW	ORPHA:247262
HP:0000248	Brachycephaly	27315	PGAP2	ORPHA:247262
HP:0000248	Brachycephaly	55650	PIGV	ORPHA:247262
HP:0000248	Brachycephaly	9487	PIGL	ORPHA:247262
HP:0000248	Brachycephaly	9487	PIGL	ORPHA:3474
HP:0000248	Brachycephaly	9487	PIGL	OMIM:280000
HP:0000248	Brachycephaly	2892	GRIA3	OMIM:300699
HP:0000248	Brachycephaly	2892	GRIA3	ORPHA:364028
HP:0000248	Brachycephaly	129685	TAF8	OMIM:619972
HP:0000248	Brachycephaly	2590	GALNT2	OMIM:618885
HP:0000248	Brachycephaly	57492	ARID1B	OMIM:135900
HP:0000248	Brachycephaly	10606	PAICS	OMIM:619859
HP:0000248	Brachycephaly	815	CAMK2A	OMIM:617798
HP:0000248	Brachycephaly	23184	MESD	OMIM:618644
HP:0000248	Brachycephaly	4313	MMP2	ORPHA:371428
HP:0000248	Brachycephaly	4313	MMP2	OMIM:259600
HP:0000248	Brachycephaly	4323	MMP14	ORPHA:371428
HP:0000248	Brachycephaly	652	BMP4	OMIM:607932
HP:0000248	Brachycephaly	54476	RNF216	ORPHA:1173
HP:0000248	Brachycephaly	10908	PNPLA6	ORPHA:1173
HP:0000248	Brachycephaly	10908	PNPLA6	ORPHA:2377
HP:0000248	Brachycephaly	51651	PTRH2	ORPHA:456312
HP:0000248	Brachycephaly	51651	PTRH2	OMIM:616263
HP:0000248	Brachycephaly	4330	MN1	OMIM:618774
HP:0000248	Brachycephaly	79813	EHMT1	OMIM:610253
HP:0000248	Brachycephaly	79813	EHMT1	ORPHA:261652
HP:0000248	Brachycephaly	79813	EHMT1	ORPHA:96147
HP:0000248	Brachycephaly	1009	CDH11	ORPHA:1299
HP:0000248	Brachycephaly	1009	CDH11	OMIM:211380
HP:0000248	Brachycephaly	7291	TWIST1	OMIM:101400
HP:0000248	Brachycephaly	7291	TWIST1	ORPHA:35099
HP:0000248	Brachycephaly	7291	TWIST1	ORPHA:794
HP:0000248	Brachycephaly	7291	TWIST1	OMIM:617746
HP:0000248	Brachycephaly	1954	MEGF8	OMIM:614976
HP:0000248	Brachycephaly	2783	GNB2	OMIM:619503
HP:0000248	Brachycephaly	26057	ANKRD17	OMIM:619504
HP:0000248	Brachycephaly	4247	MGAT2	OMIM:212066
HP:0000248	Brachycephaly	2697	GJA1	OMIM:257850
HP:0000248	Brachycephaly	81794	ADAMTS10	OMIM:277600
HP:0000248	Brachycephaly	55768	NGLY1	OMIM:615273
HP:0000248	Brachycephaly	9895	TECPR2	OMIM:615031
HP:0000248	Brachycephaly	9895	TECPR2	ORPHA:320385
HP:0000248	Brachycephaly	56006	SMG9	OMIM:619995
HP:0000248	Brachycephaly	1182	CLCN3	OMIM:619512
HP:0000248	Brachycephaly	3590	IL11RA	OMIM:614188
HP:0000248	Brachycephaly	51604	PIGT	OMIM:615398
HP:0000248	Brachycephaly	51604	PIGT	ORPHA:369837
HP:0000248	Brachycephaly	8558	CDK10	OMIM:617694
HP:0000248	Brachycephaly	51633	OTUD6B	OMIM:617452
HP:0000248	Brachycephaly	51633	OTUD6B	ORPHA:505237
HP:0000248	Brachycephaly	26053	AUTS2	OMIM:615834
HP:0000248	Brachycephaly	8239	USP9X	ORPHA:480880
HP:0000248	Brachycephaly	8239	USP9X	OMIM:300968
HP:0000248	Brachycephaly	285175	UNC80	OMIM:616801
HP:0000248	Brachycephaly	5590	PRKCZ	ORPHA:1606
HP:0000248	Brachycephaly	2563	GABRD	ORPHA:1606
HP:0000248	Brachycephaly	23013	SPEN	ORPHA:1606
HP:0000248	Brachycephaly	8510	MMP23B	ORPHA:1606
HP:0000248	Brachycephaly	7798	LUZP1	ORPHA:1606
HP:0000248	Brachycephaly	10630	PDPN	ORPHA:1606
HP:0000248	Brachycephaly	3339	HSPG2	ORPHA:1606
HP:0000248	Brachycephaly	10277	UBE4B	ORPHA:1606
HP:0000248	Brachycephaly	8514	KCNAB2	ORPHA:1606
HP:0000248	Brachycephaly	473	RERE	ORPHA:1606
HP:0000248	Brachycephaly	63976	PRDM16	ORPHA:1606
HP:0000248	Brachycephaly	54897	CASZ1	ORPHA:1606
HP:0000248	Brachycephaly	6638	SNRPN	OMIM:105830
HP:0000248	Brachycephaly	7337	UBE3A	OMIM:105830
HP:0000248	Brachycephaly	54499	TMCO1	OMIM:213980
HP:0000248	Brachycephaly	54499	TMCO1	ORPHA:1394
HP:0000248	Brachycephaly	11128	POLR3A	OMIM:264090
HP:0000248	Brachycephaly	157570	ESCO2	ORPHA:3103
HP:0000248	Brachycephaly	157570	ESCO2	OMIM:268300
HP:0000248	Brachycephaly	2517	FUCA1	ORPHA:349
HP:0000248	Brachycephaly	10236	HNRNPR	OMIM:620073
HP:0000248	Brachycephaly	79796	ALG9	ORPHA:79328
HP:0000248	Brachycephaly	79796	ALG9	OMIM:608776
HP:0000248	Brachycephaly	79796	ALG9	OMIM:263210
HP:0000248	Brachycephaly	79718	TBL1XR1	OMIM:602342
HP:0000248	Brachycephaly	79718	TBL1XR1	ORPHA:487825
HP:0000248	Brachycephaly	2200	FBN1	OMIM:608328
HP:0000248	Brachycephaly	26137	ZBTB20	OMIM:259050
HP:0000248	Brachycephaly	58508	KMT2C	ORPHA:261652
HP:0000248	Brachycephaly	4094	MAF	ORPHA:1272
HP:0000248	Brachycephaly	4094	MAF	OMIM:601088
HP:0000248	Brachycephaly	8314	BAP1	OMIM:619762
HP:0000248	Brachycephaly	253959	RALGAPA1	OMIM:618797
HP:0000248	Brachycephaly	4849	CNOT3	OMIM:618672
HP:0000248	Brachycephaly	6942	TCF20	OMIM:618430
HP:0000248	Brachycephaly	200424	TET3	OMIM:618798
HP:0000248	Brachycephaly	5832	ALDH18A1	OMIM:219150
HP:0000248	Brachycephaly	471	ATIC	OMIM:608688
HP:0000248	Brachycephaly	471	ATIC	ORPHA:250977
HP:0000248	Brachycephaly	57688	ZSWIM6	OMIM:603671
HP:0000248	Brachycephaly	57688	ZSWIM6	ORPHA:1827
HP:0000248	Brachycephaly	51567	TDP2	ORPHA:404493
HP:0000248	Brachycephaly	4488	MSX2	OMIM:604757
HP:0000248	Brachycephaly	5727	PTCH1	ORPHA:377
HP:0000248	Brachycephaly	8643	PTCH2	ORPHA:377
HP:0000248	Brachycephaly	51684	SUFU	ORPHA:377
HP:0000248	Brachycephaly	22930	RAB3GAP1	ORPHA:1387
HP:0000248	Brachycephaly	6611	SMS	OMIM:309583
HP:0000248	Brachycephaly	6611	SMS	ORPHA:3063
HP:0000248	Brachycephaly	25836	NIPBL	OMIM:122470
HP:0000248	Brachycephaly	25836	NIPBL	ORPHA:199
HP:0000248	Brachycephaly	51322	WAC	OMIM:616708
HP:0000248	Brachycephaly	60681	FKBP10	OMIM:610968
HP:0000248	Brachycephaly	701	BUB1B	OMIM:257300
HP:0000248	Brachycephaly	29123	ANKRD11	OMIM:148050
HP:0000248	Brachycephaly	5881	RAC3	OMIM:618577
HP:0000248	Brachycephaly	60529	ALX4	ORPHA:228390
HP:0000248	Brachycephaly	60529	ALX4	OMIM:613451
HP:0000248	Brachycephaly	60529	ALX4	ORPHA:52022
HP:0000248	Brachycephaly	5587	PRKD1	OMIM:617364
HP:0000248	Brachycephaly	2702	GJA5	OMIM:612474
HP:0000248	Brachycephaly	2703	GJA8	OMIM:612474
HP:0000248	Brachycephaly	123016	TTC8	OMIM:615985
HP:0000248	Brachycephaly	27152	INTU	OMIM:617925
HP:0000248	Brachycephaly	56603	CYP26B1	OMIM:614416
HP:0000248	Brachycephaly	5277	PIGA	OMIM:301072
HP:0000248	Brachycephaly	1801	DPH1	ORPHA:459061
HP:0000248	Brachycephaly	10075	HUWE1	OMIM:309590
HP:0000248	Brachycephaly	6938	TCF12	ORPHA:35099
HP:0000248	Brachycephaly	7545	ZIC1	ORPHA:35099
HP:0000248	Brachycephaly	7545	ZIC1	OMIM:616602
HP:0000248	Brachycephaly	7545	ZIC1	OMIM:618736
HP:0000248	Brachycephaly	55906	ZC4H2	OMIM:301041
HP:0000248	Brachycephaly	6909	TBX2	OMIM:618223
HP:0000248	Brachycephaly	56896	DPYSL5	OMIM:619435
HP:0000248	Brachycephaly	8092	ALX1	OMIM:613456
HP:0000248	Brachycephaly	23028	KDM1A	OMIM:616728
HP:0000248	Brachycephaly	55869	HDAC8	OMIM:300882
HP:0000248	Brachycephaly	55869	HDAC8	ORPHA:199
HP:0000248	Brachycephaly	2623	GATA1	OMIM:190685
HP:0000248	Brachycephaly	3313	HSPA9	OMIM:616854
HP:0000248	Brachycephaly	23314	SATB2	ORPHA:251019
HP:0000248	Brachycephaly	79644	SRD5A3	OMIM:612379
HP:0000248	Brachycephaly	51114	ZDHHC9	ORPHA:776
HP:0000248	Brachycephaly	65109	UPF3B	ORPHA:776
HP:0000248	Brachycephaly	9968	MED12	ORPHA:776
HP:0000248	Brachycephaly	9126	SMC3	OMIM:610759
HP:0000248	Brachycephaly	9126	SMC3	ORPHA:199
HP:0000248	Brachycephaly	54496	PRMT7	OMIM:617157
HP:0000248	Brachycephaly	10265	IRX5	OMIM:611174
HP:0000248	Brachycephaly	3054	HCFC1	OMIM:309541
HP:0000248	Brachycephaly	2077	ERF	ORPHA:207
HP:0000248	Brachycephaly	29940	DSE	OMIM:615539
HP:0000248	Brachycephaly	259232	NALCN	OMIM:615419
HP:0000248	Brachycephaly	51608	GET4	OMIM:620200
HP:0000248	Brachycephaly	23389	MED13L	ORPHA:369891
HP:0000248	Brachycephaly	23389	MED13L	OMIM:616789
HP:0000248	Brachycephaly	7703	PCGF2	OMIM:618371
HP:0000248	Brachycephaly	1301	COL11A1	ORPHA:560
HP:0000248	Brachycephaly	26040	SETBP1	OMIM:616078
HP:0000248	Brachycephaly	83696	TRAPPC9	ORPHA:352530
HP:0000248	Brachycephaly	92949	ADAMTSL1	ORPHA:521445
HP:0000248	Brachycephaly	128637	TBC1D20	OMIM:615663
HP:0000248	Brachycephaly	175	AGA	OMIM:208400
HP:0000248	Brachycephaly	860	RUNX2	ORPHA:1452
HP:0000248	Brachycephaly	23495	TNFRSF13B	ORPHA:1572
HP:0000248	Brachycephaly	4790	NFKB1	ORPHA:1572
HP:0000248	Brachycephaly	4791	NFKB2	ORPHA:1572
HP:0000248	Brachycephaly	115650	TNFRSF13C	ORPHA:1572
HP:0000248	Brachycephaly	1380	CR2	ORPHA:1572
HP:0000248	Brachycephaly	8742	TNFSF12	ORPHA:1572
HP:0000248	Brachycephaly	5580	PRKCD	ORPHA:1572
HP:0000248	Brachycephaly	930	CD19	ORPHA:1572
HP:0000248	Brachycephaly	29851	ICOS	ORPHA:1572
HP:0000248	Brachycephaly	931	MS4A1	ORPHA:1572
HP:0000248	Brachycephaly	975	CD81	ORPHA:1572
HP:0000248	Brachycephaly	359948	IRF2BP2	ORPHA:1572
HP:0000248	Brachycephaly	6304	SATB1	OMIM:619229
HP:0000248	Brachycephaly	139285	AMER1	ORPHA:2780
HP:0000248	Brachycephaly	158326	FREM1	OMIM:608980
HP:0000248	Brachycephaly	760	CA2	ORPHA:2785
HP:0000248	Brachycephaly	23476	BRD4	ORPHA:199
HP:0000248	Brachycephaly	10771	ZMYND11	OMIM:616083
HP:0000248	Brachycephaly	7874	USP7	ORPHA:500055
HP:0000248	Brachycephaly	57498	KIDINS220	OMIM:617296
HP:0000248	Brachycephaly	29957	SLC25A24	ORPHA:2095
HP:0000248	Brachycephaly	29957	SLC25A24	OMIM:612289
HP:0000248	Brachycephaly	57003	CCDC47	OMIM:618268
HP:0000248	Brachycephaly	10526	IPO8	OMIM:619472
HP:0000248	Brachycephaly	348180	CTU2	OMIM:618142
HP:0000248	Brachycephaly	4041	LRP5	ORPHA:178377
HP:0000248	Brachycephaly	22931	RAB18	OMIM:614222
HP:0000248	Brachycephaly	490	ATP2B1	OMIM:619910
HP:0000248	Brachycephaly	538	ATP7A	OMIM:309400
HP:0000248	Brachycephaly	8405	SPOP	OMIM:618828
HP:0000248	Brachycephaly	5781	PTPN11	ORPHA:500
HP:0000248	Brachycephaly	673	BRAF	ORPHA:500
HP:0000248	Brachycephaly	5894	RAF1	ORPHA:500
HP:0000248	Brachycephaly	10128	LRPPRC	ORPHA:70472
HP:0000248	Brachycephaly	526	ATP6V1B2	ORPHA:79500
HP:0000248	Brachycephaly	57465	TBC1D24	ORPHA:79500
HP:0000248	Brachycephaly	2132	EXT2	ORPHA:52022
HP:0000248	Brachycephaly	51317	PHF21A	ORPHA:52022
HP:0000248	Brachycephaly	84172	POLR1B	ORPHA:861
HP:0000248	Brachycephaly	9533	POLR1C	ORPHA:861
HP:0000248	Brachycephaly	51082	POLR1D	ORPHA:861
HP:0000248	Brachycephaly	6949	TCOF1	ORPHA:861
HP:0000248	Brachycephaly	113189	CHST14	OMIM:601776
HP:0000248	Brachycephaly	203068	TUBB	OMIM:156610
HP:0000248	Brachycephaly	285590	SH3PXD2B	OMIM:249420
HP:0000248	Brachycephaly	51715	RAB23	OMIM:201000
HP:0000248	Brachycephaly	10651	MTX2	OMIM:619127
HP:0000248	Brachycephaly	91875	TTC5	OMIM:619244
HP:0000248	Brachycephaly	202018	TAPT1	OMIM:616897
HP:0000248	Brachycephaly	1654	DDX3X	OMIM:300958
HP:0000248	Brachycephaly	9759	HDAC4	OMIM:600430
HP:0000248	Brachycephaly	51	ACOX1	OMIM:264470
HP:0000248	Brachycephaly	9897	WASHC5	OMIM:220210
HP:0000248	Brachycephaly	5745	PTH1R	OMIM:156400
HP:0000248	Brachycephaly	2629	GBA1	ORPHA:2072
HP:0000248	Brachycephaly	9320	TRIP12	OMIM:617752
HP:0000248	Brachycephaly	51594	NBAS	OMIM:614800
HP:0000248	Brachycephaly	54187	NANS	OMIM:610442
HP:0000248	Brachycephaly	5430	POLR2A	OMIM:618603
HP:0000248	Brachycephaly	9939	RBM8A	OMIM:274000
HP:0000248	Brachycephaly	2801	GOLGA2	OMIM:620240
HP:0000248	Brachycephaly	9469	CHST3	OMIM:245600
HP:0000248	Brachycephaly	26229	B3GAT3	OMIM:245600
HP:0000248	Brachycephaly	4204	MECP2	OMIM:300260
HP:0000248	Brachycephaly	1280	COL2A1	OMIM:200610
HP:0000248	Brachycephaly	7043	TGFB3	OMIM:615582
HP:0000248	Brachycephaly	4858	NOVA2	OMIM:618859
HP:0000248	Brachycephaly	27445	PCLO	OMIM:608027
HP:0000248	Brachycephaly	246329	STAC3	OMIM:255995
HP:0000248	Brachycephaly	9990	SLC12A6	OMIM:218000
HP:0012470	Setting-sun eye phenomenon	51241	COX16	OMIM:619355
HP:0012471	Thick vermilion border	5979	RET	OMIM:162300
HP:0012471	Thick vermilion border	7528	YY1	ORPHA:506358
HP:0012471	Thick vermilion border	7528	YY1	OMIM:617557
HP:0012471	Thick vermilion border	8450	CUL4B	OMIM:300354
HP:0012471	Thick vermilion border	8450	CUL4B	ORPHA:85293
HP:0012471	Thick vermilion border	23394	ADNP	ORPHA:404448
HP:0012471	Thick vermilion border	23394	ADNP	OMIM:615873
HP:0012471	Thick vermilion border	27316	RBMX	OMIM:300238
HP:0012471	Thick vermilion border	9759	HDAC4	OMIM:619797
HP:0012471	Thick vermilion border	6228	RPS23	OMIM:617412
HP:0012471	Thick vermilion border	84282	RNF135	ORPHA:137634
HP:0012471	Thick vermilion border	5457	POU4F1	ORPHA:314647
HP:0012471	Thick vermilion border	23261	CAMTA1	ORPHA:314647
HP:0012471	Thick vermilion border	23261	CAMTA1	OMIM:614756
HP:0012471	Thick vermilion border	5745	PTH1R	OMIM:600002
HP:0012471	Thick vermilion border	57465	TBC1D24	OMIM:220500
HP:0012471	Thick vermilion border	57465	TBC1D24	ORPHA:79500
HP:0012471	Thick vermilion border	57520	HECW2	OMIM:617268
HP:0012471	Thick vermilion border	79639	TMEM53	OMIM:619727
HP:0012471	Thick vermilion border	4758	NEU1	ORPHA:812
HP:0012471	Thick vermilion border	6197	RPS6KA3	OMIM:303600
HP:0012471	Thick vermilion border	6197	RPS6KA3	ORPHA:192
HP:0012471	Thick vermilion border	6197	RPS6KA3	OMIM:300844
HP:0012471	Thick vermilion border	1301	COL11A1	OMIM:154780
HP:0012471	Thick vermilion border	1301	COL11A1	ORPHA:560
HP:0012471	Thick vermilion border	23221	RHOBTB2	OMIM:618004
HP:0012471	Thick vermilion border	57492	ARID1B	OMIM:135900
HP:0012471	Thick vermilion border	57492	ARID1B	ORPHA:1465
HP:0012471	Thick vermilion border	24140	FTSJ1	OMIM:309549
HP:0012471	Thick vermilion border	6601	SMARCC2	OMIM:618362
HP:0012471	Thick vermilion border	6601	SMARCC2	ORPHA:1465
HP:0012471	Thick vermilion border	4052	LTBP1	OMIM:619451
HP:0012471	Thick vermilion border	3899	AFF3	OMIM:619297
HP:0012471	Thick vermilion border	6597	SMARCA4	ORPHA:1465
HP:0012471	Thick vermilion border	6597	SMARCA4	OMIM:614609
HP:0012471	Thick vermilion border	5977	DPF2	ORPHA:1465
HP:0012471	Thick vermilion border	5977	DPF2	OMIM:618027
HP:0012471	Thick vermilion border	6602	SMARCD1	ORPHA:1465
HP:0012471	Thick vermilion border	196528	ARID2	ORPHA:1465
HP:0012471	Thick vermilion border	6605	SMARCE1	ORPHA:1465
HP:0012471	Thick vermilion border	6605	SMARCE1	OMIM:616938
HP:0012471	Thick vermilion border	2770	GNAI1	OMIM:619854
HP:0012471	Thick vermilion border	9820	CUL7	OMIM:273750
HP:0012471	Thick vermilion border	2200	FBN1	ORPHA:969
HP:0012471	Thick vermilion border	2200	FBN1	OMIM:102370
HP:0012471	Thick vermilion border	83550	GPR101	ORPHA:963
HP:0012471	Thick vermilion border	9049	AIP	ORPHA:963
HP:0012471	Thick vermilion border	2717	GLA	ORPHA:324
HP:0012471	Thick vermilion border	1009	CDH11	OMIM:211380
HP:0012471	Thick vermilion border	3265	HRAS	ORPHA:3071
HP:0012471	Thick vermilion border	3265	HRAS	OMIM:218040
HP:0012471	Thick vermilion border	25942	SIN3A	ORPHA:94065
HP:0012471	Thick vermilion border	25942	SIN3A	OMIM:613406
HP:0012471	Thick vermilion border	9839	ZEB2	ORPHA:261552
HP:0012471	Thick vermilion border	9839	ZEB2	ORPHA:261537
HP:0012471	Thick vermilion border	10524	KAT5	OMIM:619103
HP:0012471	Thick vermilion border	8036	SHOC2	ORPHA:2701
HP:0012471	Thick vermilion border	5500	PPP1CB	ORPHA:2701
HP:0012471	Thick vermilion border	3782	KCNN3	OMIM:618658
HP:0012471	Thick vermilion border	10522	DEAF1	OMIM:615828
HP:0012471	Thick vermilion border	760	CA2	ORPHA:2785
HP:0012471	Thick vermilion border	26227	PHGDH	OMIM:256520
HP:0012471	Thick vermilion border	6611	SMS	ORPHA:3063
HP:0012471	Thick vermilion border	6611	SMS	OMIM:309583
HP:0012471	Thick vermilion border	253738	EBF3	OMIM:617330
HP:0012471	Thick vermilion border	56006	SMG9	OMIM:616920
HP:0012471	Thick vermilion border	2517	FUCA1	OMIM:230000
HP:0012471	Thick vermilion border	1859	DYRK1A	OMIM:614104
HP:0012471	Thick vermilion border	6804	STX1A	ORPHA:904
HP:0012471	Thick vermilion border	7461	CLIP2	ORPHA:904
HP:0012471	Thick vermilion border	84277	DNAJC30	ORPHA:904
HP:0012471	Thick vermilion border	8468	FKBP6	ORPHA:904
HP:0012471	Thick vermilion border	5982	RFC2	ORPHA:904
HP:0012471	Thick vermilion border	2969	GTF2I	ORPHA:904
HP:0012471	Thick vermilion border	3984	LIMK1	ORPHA:904
HP:0012471	Thick vermilion border	9569	GTF2IRD1	ORPHA:904
HP:0012471	Thick vermilion border	155382	VPS37D	ORPHA:904
HP:0012471	Thick vermilion border	155368	METTL27	ORPHA:904
HP:0012471	Thick vermilion border	114049	BUD23	ORPHA:904
HP:0012471	Thick vermilion border	7458	EIF4H	ORPHA:904
HP:0012471	Thick vermilion border	84163	GTF2IRD2	ORPHA:904
HP:0012471	Thick vermilion border	9275	BCL7B	ORPHA:904
HP:0012471	Thick vermilion border	26608	TBL2	ORPHA:904
HP:0012471	Thick vermilion border	653361	NCF1	ORPHA:904
HP:0012471	Thick vermilion border	135886	TMEM270	ORPHA:904
HP:0012471	Thick vermilion border	51085	MLXIPL	ORPHA:904
HP:0012471	Thick vermilion border	51085	MLXIPL	OMIM:194050
HP:0012471	Thick vermilion border	9031	BAZ1B	ORPHA:904
HP:0012471	Thick vermilion border	2006	ELN	ORPHA:904
HP:0012471	Thick vermilion border	2006	ELN	OMIM:194050
HP:0012471	Thick vermilion border	23137	SMC5	OMIM:620185
HP:0012471	Thick vermilion border	26137	ZBTB20	OMIM:259050
HP:0012471	Thick vermilion border	79813	EHMT1	ORPHA:261652
HP:0012471	Thick vermilion border	58508	KMT2C	ORPHA:261652
HP:0012471	Thick vermilion border	55617	TASP1	OMIM:618950
HP:0012471	Thick vermilion border	23067	SETD1B	OMIM:619000
HP:0012471	Thick vermilion border	7358	UGDH	OMIM:618792
HP:0012471	Thick vermilion border	92335	STRADA	OMIM:611087
HP:0012471	Thick vermilion border	55691	FRMD4A	ORPHA:466688
HP:0012471	Thick vermilion border	10430	TMEM147	OMIM:620075
HP:0012471	Thick vermilion border	139285	AMER1	OMIM:300373
HP:0012471	Thick vermilion border	1893	ECM1	ORPHA:530
HP:0012471	Thick vermilion border	84168	ANTXR1	OMIM:230740
HP:0012471	Thick vermilion border	22800	RRAS2	ORPHA:648
HP:0012471	Thick vermilion border	8216	LZTR1	ORPHA:648
HP:0012471	Thick vermilion border	6016	RIT1	ORPHA:648
HP:0012471	Thick vermilion border	6237	RRAS	ORPHA:648
HP:0012471	Thick vermilion border	3845	KRAS	ORPHA:648
HP:0012471	Thick vermilion border	4893	NRAS	ORPHA:648
HP:0012471	Thick vermilion border	6655	SOS2	ORPHA:648
HP:0012471	Thick vermilion border	5781	PTPN11	ORPHA:648
HP:0012471	Thick vermilion border	5922	RASA2	ORPHA:648
HP:0012471	Thick vermilion border	6513	SLC2A1	ORPHA:1942
HP:0012471	Thick vermilion border	8831	SYNGAP1	ORPHA:1942
HP:0012471	Thick vermilion border	1173	AP2M1	ORPHA:1942
HP:0012471	Thick vermilion border	6323	SCN1A	ORPHA:1942
HP:0012471	Thick vermilion border	340533	NEXMIF	ORPHA:1942
HP:0012471	Thick vermilion border	1106	CHD2	ORPHA:1942
HP:0012471	Thick vermilion border	6529	SLC6A1	ORPHA:1942
HP:0012471	Thick vermilion border	6595	SMARCA2	OMIM:601358
HP:0012471	Thick vermilion border	27077	B9D1	OMIM:617120
HP:0012471	Thick vermilion border	55331	ACER3	OMIM:617762
HP:0012471	Thick vermilion border	2702	GJA5	OMIM:612474
HP:0012471	Thick vermilion border	2703	GJA8	OMIM:612474
HP:0012471	Thick vermilion border	5696	PSMB8	OMIM:256040
HP:0012471	Thick vermilion border	10075	HUWE1	OMIM:309590
HP:0012471	Thick vermilion border	54888	NSUN2	OMIM:611091
HP:0012471	Thick vermilion border	324	APC	ORPHA:261584
HP:0012471	Thick vermilion border	8260	NAA10	OMIM:300855
HP:0012471	Thick vermilion border	5063	PAK3	OMIM:300558
HP:0012471	Thick vermilion border	79029	AFG2B	OMIM:619616
HP:0012471	Thick vermilion border	117581	TWIST2	OMIM:227260
HP:0012471	Thick vermilion border	738	VPS51	OMIM:618606
HP:0012471	Thick vermilion border	51126	NAA20	OMIM:619717
HP:0012471	Thick vermilion border	6201	RPS7	OMIM:612563
HP:0012471	Thick vermilion border	80232	WDR26	OMIM:617616
HP:0012471	Thick vermilion border	114034	TOE1	OMIM:614969
HP:0012471	Thick vermilion border	114034	TOE1	ORPHA:284339
HP:0012471	Thick vermilion border	9241	NOG	OMIM:186500
HP:0012471	Thick vermilion border	79228	THOC6	ORPHA:363444
HP:0012471	Thick vermilion border	9562	MINPP1	ORPHA:284339
HP:0012471	Thick vermilion border	23258	DENND5A	OMIM:617281
HP:0012471	Thick vermilion border	8621	CDK13	OMIM:617360
HP:0012471	Thick vermilion border	672	BRCA1	OMIM:617883
HP:0012471	Thick vermilion border	23030	KDM4B	OMIM:619320
HP:0012471	Thick vermilion border	22858	CILK1	OMIM:612651
HP:0012471	Thick vermilion border	6309	SC5D	OMIM:607330
HP:0012471	Thick vermilion border	11113	CIT	OMIM:617090
HP:0012471	Thick vermilion border	91949	COG7	OMIM:608779
HP:0012471	Thick vermilion border	51574	LARP7	OMIM:615071
HP:0012471	Thick vermilion border	51574	LARP7	ORPHA:319671
HP:0012471	Thick vermilion border	11253	MAN1B1	ORPHA:397941
HP:0012471	Thick vermilion border	54084	TSPEAR	OMIM:618180
HP:0012471	Thick vermilion border	23013	SPEN	OMIM:619312
HP:0012471	Thick vermilion border	8367	H4C5	OMIM:619950
HP:0012471	Thick vermilion border	56896	DPYSL5	OMIM:619435
HP:0012471	Thick vermilion border	9158	FIBP	ORPHA:500095
HP:0012471	Thick vermilion border	9158	FIBP	OMIM:617107
HP:0012471	Thick vermilion border	8506	CNTNAP1	OMIM:618186
HP:0012471	Thick vermilion border	8473	OGT	OMIM:300997
HP:0012471	Thick vermilion border	54517	PUS7	OMIM:618342
HP:0012471	Thick vermilion border	26128	KIFBP	OMIM:609460
HP:0012471	Thick vermilion border	23135	KDM6B	OMIM:618505
HP:0012471	Thick vermilion border	6659	SOX4	OMIM:618506
HP:0012471	Thick vermilion border	673	BRAF	OMIM:115150
HP:0012471	Thick vermilion border	673	BRAF	OMIM:613706
HP:0012471	Thick vermilion border	5894	RAF1	OMIM:611553
HP:0012471	Thick vermilion border	6418	SET	OMIM:618106
HP:0012471	Thick vermilion border	2316	FLNA	OMIM:314400
HP:0012471	Thick vermilion border	2316	FLNA	OMIM:300244
HP:0012471	Thick vermilion border	89970	RSPRY1	OMIM:616723
HP:0012471	Thick vermilion border	89970	RSPRY1	ORPHA:457395
HP:0012471	Thick vermilion border	53616	ADAM22	OMIM:617933
HP:0012471	Thick vermilion border	23363	OBSL1	OMIM:612921
HP:0012471	Thick vermilion border	546	ATRX	OMIM:301040
HP:0012471	Thick vermilion border	4784	NFIX	ORPHA:447980
HP:0012471	Thick vermilion border	2334	AFF2	ORPHA:100973
HP:0012471	Thick vermilion border	2334	AFF2	OMIM:309548
HP:0012471	Thick vermilion border	57511	COG6	ORPHA:363523
HP:0012471	Thick vermilion border	100151683	RNU4ATAC	OMIM:226960
HP:0012471	Thick vermilion border	100151683	RNU4ATAC	ORPHA:2636
HP:0012471	Thick vermilion border	374654	KIF7	OMIM:200990
HP:0012471	Thick vermilion border	113179	ADAT3	ORPHA:363528
HP:0012471	Thick vermilion border	65082	VPS33A	OMIM:617303
HP:0012471	Thick vermilion border	65082	VPS33A	ORPHA:505248
HP:0012471	Thick vermilion border	526	ATP6V1B2	OMIM:616455
HP:0012471	Thick vermilion border	55780	ERMARD	ORPHA:75857
HP:0012471	Thick vermilion border	3764	KCNJ8	ORPHA:1517
HP:0012471	Thick vermilion border	10060	ABCC9	ORPHA:1517
HP:0012471	Thick vermilion border	57231	SNX14	ORPHA:397709
HP:0012471	Thick vermilion border	57231	SNX14	OMIM:616354
HP:0012471	Thick vermilion border	4763	NF1	OMIM:601321
HP:0012471	Thick vermilion border	4763	NF1	ORPHA:363700
HP:0012471	Thick vermilion border	5934	RBL2	OMIM:619690
HP:0012471	Thick vermilion border	83999	KREMEN1	OMIM:617392
HP:0012471	Thick vermilion border	1896	EDA	OMIM:305100
HP:0012471	Thick vermilion border	56992	KIF15	ORPHA:261323
HP:0012471	Thick vermilion border	56915	EXOSC5	OMIM:619576
HP:0012471	Thick vermilion border	2590	GALNT2	OMIM:618885
HP:0012471	Thick vermilion border	54453	RIN2	OMIM:613075
HP:0012471	Thick vermilion border	4998	ORC1	OMIM:224690
HP:0012471	Thick vermilion border	4998	ORC1	ORPHA:2554
HP:0012471	Thick vermilion border	3756	KCNH1	OMIM:135500
HP:0012471	Thick vermilion border	3756	KCNH1	ORPHA:420561
HP:0012471	Thick vermilion border	3756	KCNH1	OMIM:611816
HP:0012471	Thick vermilion border	7021	TFAP2B	ORPHA:46627
HP:0012471	Thick vermilion border	5530	PPP3CA	OMIM:617711
HP:0012471	Thick vermilion border	3423	IDS	ORPHA:217085
HP:0012471	Thick vermilion border	3423	IDS	ORPHA:217093
HP:0012471	Thick vermilion border	9968	MED12	ORPHA:93932
HP:0012471	Thick vermilion border	7965	AIMP2	OMIM:618006
HP:0012471	Thick vermilion border	93627	TBCK	OMIM:616900
HP:0012471	Thick vermilion border	83987	CCDC8	OMIM:614205
HP:0012471	Thick vermilion border	8289	ARID1A	OMIM:614607
HP:0012471	Thick vermilion border	81620	CDT1	ORPHA:2554
HP:0012471	Thick vermilion border	5000	ORC4	ORPHA:2554
HP:0012471	Thick vermilion border	23594	ORC6	ORPHA:2554
HP:0012471	Thick vermilion border	23594	ORC6	OMIM:613803
HP:0012471	Thick vermilion border	8318	CDC45	ORPHA:2554
HP:0012471	Thick vermilion border	990	CDC6	ORPHA:2554
HP:0012471	Thick vermilion border	990	CDC6	OMIM:613805
HP:0012471	Thick vermilion border	51053	GMNN	ORPHA:2554
HP:0012471	Thick vermilion border	51053	GMNN	OMIM:616835
HP:0012471	Thick vermilion border	6598	SMARCB1	OMIM:614608
HP:0012471	Thick vermilion border	222663	SCUBE3	OMIM:619184
HP:0012471	Thick vermilion border	6045	RNF2	OMIM:619460
HP:0012471	Thick vermilion border	6792	CDKL5	ORPHA:505652
HP:0012471	Thick vermilion border	9509	ADAMTS2	OMIM:225410
HP:0012471	Thick vermilion border	22872	SEC31A	OMIM:618651
HP:0012471	Thick vermilion border	22808	MRAS	OMIM:618499
HP:0012471	Thick vermilion border	54681	P4HTM	OMIM:618493
HP:0012471	Thick vermilion border	4174	MCM5	OMIM:617564
HP:0012471	Thick vermilion border	26040	SETBP1	OMIM:616078
HP:0012471	Thick vermilion border	3188	HNRNPH2	OMIM:300986
HP:0012471	Thick vermilion border	51305	KCNK9	ORPHA:166108
HP:0012471	Thick vermilion border	4613	MYCN	OMIM:164280
HP:0012471	Thick vermilion border	4338	MOCS2	OMIM:252160
HP:0012471	Thick vermilion border	200734	SPRED2	OMIM:619745
HP:0012471	Thick vermilion border	79644	SRD5A3	OMIM:612713
HP:0012471	Thick vermilion border	3425	IDUA	OMIM:607014
HP:0012471	Thick vermilion border	3425	IDUA	OMIM:607015
HP:0012471	Thick vermilion border	3425	IDUA	ORPHA:93474
HP:0012471	Thick vermilion border	3425	IDUA	ORPHA:93473
HP:0012471	Thick vermilion border	175	AGA	ORPHA:93
HP:0012471	Thick vermilion border	9487	PIGL	ORPHA:3474
HP:0012471	Thick vermilion border	9487	PIGL	OMIM:280000
HP:0012471	Thick vermilion border	54345	SOX18	OMIM:137940
HP:0012471	Thick vermilion border	57003	CCDC47	OMIM:618268
HP:0012471	Thick vermilion border	2892	GRIA3	ORPHA:364028
HP:0012471	Thick vermilion border	11154	AP4S1	OMIM:614067
HP:0012471	Thick vermilion border	6711	SPTBN1	OMIM:619475
HP:0012471	Thick vermilion border	9791	PTDSS1	ORPHA:2658
HP:0012471	Thick vermilion border	4337	MOCS1	OMIM:252150
HP:0012471	Thick vermilion border	26053	AUTS2	OMIM:615834
HP:0012471	Thick vermilion border	8239	USP9X	ORPHA:480880
HP:0012471	Thick vermilion border	3643	INSR	ORPHA:508
HP:0012471	Thick vermilion border	285590	SH3PXD2B	ORPHA:137834
HP:0012471	Thick vermilion border	85440	DOCK7	ORPHA:411986
HP:0012471	Thick vermilion border	85440	DOCK7	OMIM:615859
HP:0012471	Thick vermilion border	10283	CWC27	OMIM:250410
HP:0012471	Thick vermilion border	6925	TCF4	ORPHA:2896
HP:0012471	Thick vermilion border	23630	KCNE5	ORPHA:86818
HP:0012471	Thick vermilion border	2182	ACSL4	ORPHA:86818
HP:0012471	Thick vermilion border	9949	AMMECR1	ORPHA:86818
HP:0012471	Thick vermilion border	11198	SUPT16H	OMIM:619480
HP:0012471	Thick vermilion border	128178	EDARADD	OMIM:224900
HP:0012471	Thick vermilion border	128178	EDARADD	ORPHA:1810
HP:0012471	Thick vermilion border	10913	EDAR	OMIM:224900
HP:0012471	Thick vermilion border	10913	EDAR	ORPHA:1810
HP:0012471	Thick vermilion border	7204	TRIO	OMIM:617061
HP:0012471	Thick vermilion border	2077	ERF	OMIM:617180
HP:0012471	Thick vermilion border	54828	BCAS3	OMIM:619641
HP:0012471	Thick vermilion border	374879	ZNF699	OMIM:619488
HP:0012471	Thick vermilion border	8567	MADD	OMIM:619005
HP:0012471	Thick vermilion border	7750	ZMYM2	OMIM:619522
HP:0012471	Thick vermilion border	27086	FOXP1	ORPHA:391372
HP:0012471	Thick vermilion border	56098	PCDHGC4	OMIM:619880
HP:0012471	Thick vermilion border	51098	IFT52	OMIM:617102
HP:0012471	Thick vermilion border	29123	ANKRD11	ORPHA:261250
HP:0012471	Thick vermilion border	3832	KIF11	ORPHA:2526
HP:0012471	Thick vermilion border	2890	GRIA1	OMIM:619927
HP:0012471	Thick vermilion border	118924	FRA10AC1	OMIM:620113
HP:0012471	Thick vermilion border	8911	CACNA1I	OMIM:620114
HP:0012471	Thick vermilion border	388015	RTL1	ORPHA:96334
HP:0012471	Thick vermilion border	8788	DLK1	ORPHA:96334
HP:0012471	Thick vermilion border	55384	MEG3	ORPHA:96334
HP:0012471	Thick vermilion border	2799	GNS	OMIM:252940
HP:0012471	Thick vermilion border	2273	FHL1	OMIM:300280
HP:0012471	Thick vermilion border	57724	EPG5	OMIM:242840
HP:0012471	Thick vermilion border	80267	EDEM3	OMIM:619493
HP:0012471	Thick vermilion border	4841	NONO	ORPHA:466791
HP:0012471	Thick vermilion border	7030	TFE3	OMIM:301066
HP:0012471	Thick vermilion border	7355	SLC35A2	OMIM:300896
HP:0012471	Thick vermilion border	10735	STAG2	ORPHA:521258
HP:0012471	Thick vermilion border	4668	NAGA	ORPHA:79280
HP:0012471	Thick vermilion border	8481	OFD1	OMIM:300804
HP:0012471	Thick vermilion border	54187	NANS	OMIM:610442
HP:0012471	Thick vermilion border	1968	EIF2S3	ORPHA:85282
HP:0012471	Thick vermilion border	5557	PRIM1	OMIM:620005
HP:0012471	Thick vermilion border	79791	FBXO31	OMIM:615979
HP:0012471	Thick vermilion border	64131	XYLT1	ORPHA:370930
HP:0012471	Thick vermilion border	129285	PPP1R21	OMIM:619383
HP:0012471	Thick vermilion border	55181	SMG8	OMIM:619268
HP:0012471	Thick vermilion border	867	CBL	OMIM:613563
HP:0012471	Thick vermilion border	55367	PIDD1	OMIM:619827
HP:0012471	Thick vermilion border	84148	KAT8	OMIM:618974
HP:0012471	Thick vermilion border	51013	EXOSC1	OMIM:619304
HP:0012471	Thick vermilion border	2719	GPC3	OMIM:312870
HP:0012471	Thick vermilion border	2239	GPC4	OMIM:312870
HP:0012471	Thick vermilion border	6664	SOX11	OMIM:615866
HP:0012471	Thick vermilion border	6654	SOS1	OMIM:610733
HP:0012471	Thick vermilion border	8905	AP1S2	OMIM:304340
HP:0012471	Thick vermilion border	3720	JARID2	OMIM:620098
HP:0012471	Thick vermilion border	7189	TRAF6	ORPHA:1810
HP:0012471	Thick vermilion border	126695	KDF1	ORPHA:1810
HP:0012471	Thick vermilion border	4054	LTBP3	OMIM:617809
HP:0012473	Tongue atrophy	79628	SH3TC2	OMIM:601596
HP:0012473	Tongue atrophy	79628	SH3TC2	ORPHA:99949
HP:0012473	Tongue atrophy	2483	FRG1	OMIM:158900
HP:0012473	Tongue atrophy	80025	PANK2	ORPHA:216873
HP:0012473	Tongue atrophy	2934	GSN	ORPHA:85448
HP:0012473	Tongue atrophy	339855	KY	OMIM:617114
HP:0012473	Tongue atrophy	339855	KY	ORPHA:496689
HP:0012473	Tongue atrophy	9427	ECEL1	OMIM:615065
HP:0012473	Tongue atrophy	3508	IGHMBP2	OMIM:616155
HP:0012473	Tongue atrophy	10528	NOP56	OMIM:614153
HP:0012473	Tongue atrophy	10528	NOP56	ORPHA:276198
HP:0012473	Tongue atrophy	22880	MORC2	ORPHA:466768
HP:0012473	Tongue atrophy	10133	OPTN	OMIM:613435
HP:0012473	Tongue atrophy	51010	EXOSC3	OMIM:614678
HP:0012473	Tongue atrophy	81846	SBF2	ORPHA:99956
HP:0012473	Tongue atrophy	4747	NEFL	ORPHA:101085
HP:0012473	Tongue atrophy	113278	SLC52A3	OMIM:211530
HP:0012473	Tongue atrophy	285489	DOK7	OMIM:254300
HP:0012474	Carotid artery occlusion	4000	LMNA	ORPHA:740
HP:0012474	Carotid artery occlusion	10269	ZMPSTE24	ORPHA:740
HP:0012475	Decreased circulating level of specific antibody	57511	COG6	OMIM:614576
HP:0012475	Decreased circulating level of specific antibody	355	FAS	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	356	FASLG	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	843	CASP10	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	10125	RASGRP1	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	7454	WAS	OMIM:301000
HP:0012475	Decreased circulating level of specific antibody	84061	MAGT1	OMIM:300853
HP:0012475	Decreased circulating level of specific antibody	3559	IL2RA	OMIM:606367
HP:0012475	Decreased circulating level of specific antibody	100	ADA	OMIM:102700
HP:0012475	Decreased circulating level of specific antibody	56259	CTNNBL1	OMIM:619846
HP:0012475	Decreased circulating level of specific antibody	7535	ZAP70	OMIM:617006
HP:0012475	Decreased circulating level of specific antibody	5293	PIK3CD	OMIM:615513
HP:0012475	Decreased circulating level of specific antibody	3514	IGKC	ORPHA:183675
HP:0012475	Decreased circulating level of specific antibody	3501	IGHG2	ORPHA:183675
HP:0012475	Decreased circulating level of specific antibody	359948	IRF2BP2	OMIM:617765
HP:0012475	Decreased circulating level of specific antibody	987	LRBA	OMIM:614700
HP:0012475	Decreased circulating level of specific antibody	90417	KNSTRN	ORPHA:221139
HP:0012475	Decreased circulating level of specific antibody	146206	CARMIL2	OMIM:618131
HP:0012475	Decreased circulating level of specific antibody	55343	SLC35C1	ORPHA:99843
HP:0012475	Decreased circulating level of specific antibody	5580	PRKCD	OMIM:615559
HP:0012475	Decreased circulating level of specific antibody	973	CD79A	OMIM:613501
HP:0012475	Decreased circulating level of specific antibody	919	CD247	OMIM:610163
HP:0012475	Decreased circulating level of specific antibody	10892	MALT1	OMIM:615468
HP:0012475	Decreased circulating level of specific antibody	975	CD81	OMIM:613496
HP:0012475	Decreased circulating level of specific antibody	57379	AICDA	OMIM:605258
HP:0012475	Decreased circulating level of specific antibody	9138	ARHGEF1	OMIM:618459
HP:0012475	Decreased circulating level of specific antibody	79087	ALG12	ORPHA:79324
HP:0012475	Decreased circulating level of specific antibody	1503	CTPS1	OMIM:615897
HP:0012475	Decreased circulating level of specific antibody	970	CD70	OMIM:618261
HP:0012475	Decreased circulating level of specific antibody	8737	RIPK1	OMIM:618108
HP:0012475	Decreased circulating level of specific antibody	6929	TCF3	OMIM:619824
HP:0012475	Decreased circulating level of specific antibody	5966	REL	OMIM:619652
HP:0012475	Decreased circulating level of specific antibody	567	B2M	OMIM:241600
HP:0012475	Decreased circulating level of specific antibody	84433	CARD11	OMIM:616452
HP:0012475	Decreased circulating level of specific antibody	11151	CORO1A	OMIM:615401
HP:0012475	Decreased circulating level of specific antibody	10525	HYOU1	OMIM:233600
HP:0012475	Decreased circulating level of specific antibody	841	CASP8	OMIM:607271
HP:0012475	Decreased circulating level of specific antibody	8517	IKBKG	OMIM:301081
HP:0012475	Decreased circulating level of specific antibody	54440	SASH3	OMIM:301082
HP:0012475	Decreased circulating level of specific antibody	23495	TNFRSF13B	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	115650	TNFRSF13C	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	1380	CR2	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	29851	ICOS	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	930	CD19	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	695	BTK	OMIM:300755
HP:0012475	Decreased circulating level of specific antibody	5880	RAC2	OMIM:618986
HP:0012476	Decreased specific pneumococcal antibody level	975	CD81	OMIM:613496
HP:0012476	Decreased specific pneumococcal antibody level	1503	CTPS1	OMIM:615897
HP:0012476	Decreased specific pneumococcal antibody level	7535	ZAP70	OMIM:617006
HP:0012476	Decreased specific pneumococcal antibody level	5293	PIK3CD	OMIM:615513
HP:0012476	Decreased specific pneumococcal antibody level	1380	CR2	OMIM:614699
HP:0012476	Decreased specific pneumococcal antibody level	3514	IGKC	ORPHA:183675
HP:0012476	Decreased specific pneumococcal antibody level	3501	IGHG2	ORPHA:183675
HP:0012477	Vocal tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0012477	Vocal tremor	63982	ANO3	ORPHA:420485
HP:0012478	Temporomandibular joint ankylosis	3423	IDS	ORPHA:217085
HP:0012478	Temporomandibular joint ankylosis	3423	IDS	ORPHA:217093
HP:0012478	Temporomandibular joint ankylosis	4000	LMNA	ORPHA:1662
HP:0012478	Temporomandibular joint ankylosis	10269	ZMPSTE24	ORPHA:1662
HP:0012478	Temporomandibular joint ankylosis	10269	ZMPSTE24	OMIM:275210
HP:0012478	Temporomandibular joint ankylosis	5332	PLCB4	OMIM:614669
HP:0012478	Temporomandibular joint ankylosis	10262	SF3B4	OMIM:154400
HP:0012479	Temporomandibular joint crepitus	23230	VPS13A	ORPHA:2388
HP:0012472	Eclabion	3480	IGF1R	ORPHA:73273
HP:0012472	Eclabion	7051	TGM1	OMIM:242300
HP:0012472	Eclabion	7051	TGM1	ORPHA:313
HP:0012472	Eclabion	26235	FBXL4	OMIM:615471
HP:0012472	Eclabion	30000	TNPO2	OMIM:619556
HP:0012472	Eclabion	54517	PUS7	OMIM:618342
HP:0012472	Eclabion	23241	PACS2	OMIM:618067
HP:0012472	Eclabion	26128	KIFBP	OMIM:609460
HP:0012472	Eclabion	4204	MECP2	ORPHA:1762
HP:0012472	Eclabion	23394	ADNP	OMIM:615873
HP:0012472	Eclabion	9820	CUL7	ORPHA:2616
HP:0012472	Eclabion	23363	OBSL1	ORPHA:2616
HP:0012472	Eclabion	83987	CCDC8	ORPHA:2616
HP:0012472	Eclabion	57539	WDR35	OMIM:613610
HP:0012472	Eclabion	57539	WDR35	ORPHA:1515
HP:0012472	Eclabion	81857	MED25	OMIM:616449
HP:0012472	Eclabion	81857	MED25	ORPHA:464738
HP:0012472	Eclabion	55624	POMGNT1	OMIM:253280
HP:0012472	Eclabion	55777	MBD5	ORPHA:228402
HP:0012472	Eclabion	55777	MBD5	OMIM:156200
HP:0012472	Eclabion	79813	EHMT1	ORPHA:96147
HP:0012472	Eclabion	79813	EHMT1	OMIM:610253
HP:0012472	Eclabion	51099	ABHD5	OMIM:275630
HP:0012472	Eclabion	5308	PITX2	ORPHA:782
HP:0012472	Eclabion	2296	FOXC1	ORPHA:782
HP:0012472	Eclabion	57465	TBC1D24	OMIM:220500
HP:0012472	Eclabion	116931	MED12L	OMIM:618872
HP:0012472	Eclabion	91179	SCARF2	OMIM:600920
HP:0012472	Eclabion	3020	H3-3A	OMIM:619720
HP:0012472	Eclabion	80816	ASXL3	OMIM:615485
HP:0012472	Eclabion	80816	ASXL3	ORPHA:352577
HP:0012472	Eclabion	283489	CHAMP1	OMIM:616579
HP:0012472	Eclabion	23384	SPECC1L	ORPHA:1519
HP:0012472	Eclabion	112752	IFT43	ORPHA:1515
HP:0012472	Eclabion	112752	IFT43	OMIM:614099
HP:0012472	Eclabion	51098	IFT52	ORPHA:1515
HP:0012472	Eclabion	55764	IFT122	ORPHA:1515
HP:0012472	Eclabion	55764	IFT122	OMIM:218330
HP:0012472	Eclabion	57728	WDR19	ORPHA:1515
HP:0012472	Eclabion	4952	OCRL	ORPHA:534
HP:0012472	Eclabion	29957	SLC25A24	ORPHA:2963
HP:0012472	Eclabion	29957	SLC25A24	OMIM:612289
HP:0012472	Eclabion	6197	RPS6KA3	OMIM:303600
HP:0012472	Eclabion	6197	RPS6KA3	ORPHA:276630
HP:0012472	Eclabion	6197	RPS6KA3	ORPHA:192
HP:0012472	Eclabion	6197	RPS6KA3	OMIM:300844
HP:0012472	Eclabion	5980	REV3L	ORPHA:570
HP:0012472	Eclabion	23129	PLXND1	ORPHA:570
HP:0012472	Eclabion	284058	KANSL1	ORPHA:363958
HP:0012472	Eclabion	284058	KANSL1	ORPHA:363965
HP:0012472	Eclabion	284058	KANSL1	OMIM:610443
HP:0012472	Eclabion	10265	IRX5	OMIM:611174
HP:0012472	Eclabion	80204	FBXO11	OMIM:618089
HP:0012472	Eclabion	7021	TFAP2B	ORPHA:46627
HP:0012472	Eclabion	2068	ERCC2	ORPHA:1466
HP:0012472	Eclabion	2067	ERCC1	ORPHA:1466
HP:0012472	Eclabion	2074	ERCC6	ORPHA:1466
HP:0012472	Eclabion	2073	ERCC5	ORPHA:1466
HP:0012472	Eclabion	1009	CDH11	OMIM:619736
HP:0012472	Eclabion	546	ATRX	ORPHA:847
HP:0012472	Eclabion	6792	CDKL5	ORPHA:505652
HP:0012472	Eclabion	23258	DENND5A	OMIM:617281
HP:0012472	Eclabion	9509	ADAMTS2	OMIM:225410
HP:0012472	Eclabion	1193	CLIC2	ORPHA:324410
HP:0012472	Eclabion	4613	MYCN	OMIM:164280
HP:0012472	Eclabion	7020	TFAP2A	ORPHA:1297
HP:0012472	Eclabion	6638	SNRPN	ORPHA:177907
HP:0012472	Eclabion	4247	MGAT2	OMIM:212066
HP:0012472	Eclabion	151516	ASPRV1	ORPHA:313
HP:0012472	Eclabion	242	ALOX12B	ORPHA:313
HP:0012472	Eclabion	242	ALOX12B	OMIM:242100
HP:0012472	Eclabion	126410	CYP4F22	ORPHA:313
HP:0012472	Eclabion	6820	SULT2B1	ORPHA:313
HP:0012472	Eclabion	26154	ABCA12	ORPHA:313
HP:0012472	Eclabion	26154	ABCA12	OMIM:242500
HP:0012472	Eclabion	643418	LIPN	ORPHA:313
HP:0012472	Eclabion	59344	ALOXE3	ORPHA:313
HP:0012472	Eclabion	59344	ALOXE3	OMIM:242100
HP:0012472	Eclabion	348938	NIPAL4	ORPHA:313
HP:0012472	Eclabion	121214	SDR9C7	ORPHA:313
HP:0012472	Eclabion	79718	TBL1XR1	ORPHA:487825
HP:0012472	Eclabion	79718	TBL1XR1	OMIM:602342
HP:0012472	Eclabion	57167	SALL4	ORPHA:233
HP:0012472	Eclabion	9935	MAFB	ORPHA:233
HP:0012472	Eclabion	1123	CHN1	ORPHA:233
HP:0012472	Eclabion	6611	SMS	ORPHA:3063
HP:0012472	Eclabion	2290	FOXG1	ORPHA:261144
HP:0012472	Eclabion	10847	SRCAP	OMIM:619595
HP:0012472	Eclabion	56006	SMG9	OMIM:616920
HP:0012472	Eclabion	1909	EDNRA	OMIM:616367
HP:0012472	Eclabion	6804	STX1A	ORPHA:904
HP:0012472	Eclabion	7461	CLIP2	ORPHA:904
HP:0012472	Eclabion	84277	DNAJC30	ORPHA:904
HP:0012472	Eclabion	8468	FKBP6	ORPHA:904
HP:0012472	Eclabion	5982	RFC2	ORPHA:904
HP:0012472	Eclabion	2969	GTF2I	ORPHA:904
HP:0012472	Eclabion	3984	LIMK1	ORPHA:904
HP:0012472	Eclabion	9569	GTF2IRD1	ORPHA:904
HP:0012472	Eclabion	155382	VPS37D	ORPHA:904
HP:0012472	Eclabion	155368	METTL27	ORPHA:904
HP:0012472	Eclabion	114049	BUD23	ORPHA:904
HP:0012472	Eclabion	7458	EIF4H	ORPHA:904
HP:0012472	Eclabion	84163	GTF2IRD2	ORPHA:904
HP:0012472	Eclabion	9275	BCL7B	ORPHA:904
HP:0012472	Eclabion	26608	TBL2	ORPHA:904
HP:0012472	Eclabion	653361	NCF1	ORPHA:904
HP:0012472	Eclabion	135886	TMEM270	ORPHA:904
HP:0012472	Eclabion	51085	MLXIPL	ORPHA:904
HP:0012472	Eclabion	9031	BAZ1B	ORPHA:904
HP:0012472	Eclabion	2006	ELN	ORPHA:904
HP:0012472	Eclabion	85440	DOCK7	ORPHA:411986
HP:0012472	Eclabion	85440	DOCK7	OMIM:615859
HP:0012472	Eclabion	3425	IDUA	ORPHA:93474
HP:0012472	Eclabion	3425	IDUA	ORPHA:93473
HP:0012472	Eclabion	6134	RPL10	ORPHA:459070
HP:0012472	Eclabion	6595	SMARCA2	ORPHA:3051
HP:0012472	Eclabion	6595	SMARCA2	OMIM:601358
HP:0012472	Eclabion	4893	NRAS	OMIM:137550
HP:0012472	Eclabion	3265	HRAS	OMIM:137550
HP:0012472	Eclabion	54828	BCAS3	OMIM:619641
HP:0012472	Eclabion	54870	QRICH1	OMIM:617982
HP:0012472	Eclabion	56098	PCDHGC4	OMIM:619880
HP:0012472	Eclabion	53335	BCL11A	OMIM:617101
HP:0012472	Eclabion	57688	ZSWIM6	OMIM:617865
HP:0012472	Eclabion	4784	NFIX	OMIM:614753
HP:0012472	Eclabion	4190	MDH1	OMIM:618959
HP:0012472	Eclabion	57192	MCOLN1	ORPHA:578
HP:0012472	Eclabion	2273	FHL1	OMIM:300280
HP:0012472	Eclabion	55691	FRMD4A	OMIM:616819
HP:0012472	Eclabion	10430	TMEM147	OMIM:620075
HP:0012472	Eclabion	5080	PAX6	ORPHA:893
HP:0012472	Eclabion	627	BDNF	ORPHA:893
HP:0012472	Eclabion	7490	WT1	ORPHA:893
HP:0012472	Eclabion	7030	TFE3	OMIM:301066
HP:0012472	Eclabion	79989	IFT56	OMIM:619534
HP:0012472	Eclabion	650	BMP2	OMIM:617877
HP:0012472	Eclabion	9487	PIGL	OMIM:280000
HP:0012472	Eclabion	22930	RAB3GAP1	ORPHA:1387
HP:0012472	Eclabion	25782	RAB3GAP2	ORPHA:1387
HP:0012472	Eclabion	84700	MYO18B	OMIM:616549
HP:0012472	Eclabion	23389	MED13L	OMIM:616789
HP:0012472	Eclabion	138050	HGSNAT	OMIM:252930
HP:0012472	Eclabion	3778	KCNMA1	OMIM:618729
HP:0012472	Eclabion	3339	HSPG2	ORPHA:800
HP:0012472	Eclabion	1917	EEF1A2	OMIM:616393
HP:0012472	Eclabion	22907	DHX30	OMIM:617804
HP:0012472	Eclabion	2245	FGD1	ORPHA:915
HP:0012472	Eclabion	84168	ANTXR1	ORPHA:2067
HP:0012472	Eclabion	58508	KMT2C	OMIM:617768
HP:0012472	Eclabion	6664	SOX11	OMIM:615866
HP:0012472	Eclabion	4487	MSX1	ORPHA:2228
HP:0012472	Eclabion	128178	EDARADD	OMIM:224900
HP:0012472	Eclabion	10913	EDAR	OMIM:224900
HP:0012472	Eclabion	129563	DIS3L2	OMIM:267000
HP:0012472	Eclabion	50801	KCNK4	OMIM:618381
HP:0012472	Eclabion	57724	EPG5	OMIM:242840
HP:0012472	Eclabion	10717	AP4B1	ORPHA:280763
HP:0012472	Eclabion	9179	AP4M1	ORPHA:280763
HP:0012472	Eclabion	11154	AP4S1	ORPHA:280763
HP:0012472	Eclabion	23431	AP4E1	ORPHA:280763
HP:0012472	Eclabion	1896	EDA	OMIM:305100
HP:0012472	Eclabion	1896	EDA	ORPHA:181
HP:0012472	Eclabion	80232	WDR26	ORPHA:513456
HP:0012472	Eclabion	60401	EDA2R	ORPHA:181
HP:0012472	Eclabion	1387	CREBBP	OMIM:618332
HP:0012472	Eclabion	374654	KIF7	OMIM:200990
HP:0012472	Eclabion	8294	H4C9	OMIM:619951
HP:0012472	Eclabion	10743	RAI1	OMIM:182290
HP:0012472	Eclabion	9739	SETD1A	OMIM:619056
HP:0012472	Eclabion	8260	NAA10	OMIM:300855
HP:0012472	Eclabion	8260	NAA10	ORPHA:276432
HP:0012472	Eclabion	1788	DNMT3A	OMIM:615879
HP:0012472	Eclabion	6929	TCF3	OMIM:619824
HP:0012472	Eclabion	2629	GBA1	OMIM:608013
HP:0012472	Eclabion	4131	MAP1B	OMIM:618918
HP:0012472	Eclabion	6597	SMARCA4	OMIM:614609
HP:0012472	Eclabion	3756	KCNH1	ORPHA:420561
HP:0012472	Eclabion	11253	MAN1B1	ORPHA:397941
HP:0012472	Eclabion	404672	GTF2H5	OMIM:616395
HP:0012472	Eclabion	8367	H4C5	OMIM:619950
HP:0012472	Eclabion	204219	CERS3	OMIM:615023
HP:0012472	Eclabion	54453	RIN2	OMIM:613075
HP:0012472	Eclabion	2260	FGFR1	ORPHA:99798
HP:0012472	Eclabion	5083	PAX9	ORPHA:99798
HP:0012472	Eclabion	7341	SUMO1	ORPHA:99798
HP:0012472	Eclabion	80326	WNT10A	ORPHA:99798
HP:0012472	Eclabion	8313	AXIN2	ORPHA:99798
HP:0012472	Eclabion	3664	IRF6	ORPHA:99798
HP:0012472	Eclabion	4040	LRP6	ORPHA:99798
HP:0012472	Eclabion	7039	TGFA	ORPHA:99798
HP:0012472	Eclabion	7480	WNT10B	ORPHA:99798
HP:0009417	Pseudoepiphyses of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009420	Triangular epiphyses of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0000293	Full cheeks	2137	EXTL3	ORPHA:508533
HP:0000293	Full cheeks	2137	EXTL3	OMIM:617425
HP:0000293	Full cheeks	9488	PIGB	OMIM:618580
HP:0000293	Full cheeks	3376	IARS1	OMIM:617093
HP:0000293	Full cheeks	3376	IARS1	ORPHA:541423
HP:0000293	Full cheeks	6309	SC5D	ORPHA:46059
HP:0000293	Full cheeks	91754	NEK9	OMIM:614262
HP:0000293	Full cheeks	23135	KDM6B	OMIM:618505
HP:0000293	Full cheeks	6885	MAP3K7	OMIM:617137
HP:0000293	Full cheeks	6885	MAP3K7	OMIM:157800
HP:0000293	Full cheeks	6885	MAP3K7	ORPHA:1826
HP:0000293	Full cheeks	57539	WDR35	OMIM:613610
HP:0000293	Full cheeks	3008	H1-4	OMIM:617537
HP:0000293	Full cheeks	85358	SHANK3	OMIM:606232
HP:0000293	Full cheeks	85358	SHANK3	ORPHA:48652
HP:0000293	Full cheeks	2778	GNAS	ORPHA:94089
HP:0000293	Full cheeks	2778	GNAS	OMIM:612463
HP:0000293	Full cheeks	2778	GNAS	OMIM:612462
HP:0000293	Full cheeks	2778	GNAS	ORPHA:79443
HP:0000293	Full cheeks	2778	GNAS	ORPHA:79444
HP:0000293	Full cheeks	2778	GNAS	OMIM:103580
HP:0000293	Full cheeks	8675	STX16	ORPHA:94089
HP:0000293	Full cheeks	27125	AFF4	ORPHA:444077
HP:0000293	Full cheeks	80232	WDR26	ORPHA:513456
HP:0000293	Full cheeks	80232	WDR26	OMIM:617616
HP:0000293	Full cheeks	650	BMP2	ORPHA:261295
HP:0000293	Full cheeks	9578	CDC42BPB	OMIM:619841
HP:0000293	Full cheeks	29998	BICRA	OMIM:619325
HP:0000293	Full cheeks	6651	SON	OMIM:617140
HP:0000293	Full cheeks	6651	SON	ORPHA:500150
HP:0000293	Full cheeks	51506	UFC1	OMIM:618076
HP:0000293	Full cheeks	8882	ZPR1	OMIM:619321
HP:0000293	Full cheeks	6492	SIM1	ORPHA:171829
HP:0000293	Full cheeks	63916	ELMO2	ORPHA:3019
HP:0000293	Full cheeks	1841	DTYMK	OMIM:619847
HP:0000293	Full cheeks	4010	LMX1B	ORPHA:495818
HP:0000293	Full cheeks	6812	STXBP1	ORPHA:495818
HP:0000293	Full cheeks	1363	CPE	OMIM:619326
HP:0000293	Full cheeks	55904	KMT2E	OMIM:618512
HP:0000293	Full cheeks	4000	LMNA	OMIM:248370
HP:0000293	Full cheeks	4952	OCRL	ORPHA:534
HP:0000293	Full cheeks	57231	SNX14	ORPHA:397709
HP:0000293	Full cheeks	2542	SLC37A4	ORPHA:79259
HP:0000293	Full cheeks	65082	VPS33A	ORPHA:505248
HP:0000293	Full cheeks	10735	STAG2	OMIM:301022
HP:0000293	Full cheeks	10588	MTHFS	OMIM:618367
HP:0000293	Full cheeks	1020	CDK5	OMIM:616342
HP:0000293	Full cheeks	9739	SETD1A	OMIM:619056
HP:0000293	Full cheeks	3756	KCNH1	OMIM:135500
HP:0000293	Full cheeks	3756	KCNH1	ORPHA:420561
HP:0000293	Full cheeks	4853	NOTCH2	OMIM:102500
HP:0000293	Full cheeks	4853	NOTCH2	ORPHA:955
HP:0000293	Full cheeks	3423	IDS	ORPHA:217085
HP:0000293	Full cheeks	3423	IDS	ORPHA:217093
HP:0000293	Full cheeks	9326	ZNHIT3	ORPHA:2836
HP:0000293	Full cheeks	9326	ZNHIT3	OMIM:260565
HP:0000293	Full cheeks	547	KIF1A	ORPHA:2836
HP:0000293	Full cheeks	5604	MAP2K1	ORPHA:1340
HP:0000293	Full cheeks	5605	MAP2K2	ORPHA:1340
HP:0000293	Full cheeks	3845	KRAS	ORPHA:1340
HP:0000293	Full cheeks	673	BRAF	ORPHA:1340
HP:0000293	Full cheeks	2248	FGF3	ORPHA:2791
HP:0000293	Full cheeks	2138	EYA1	ORPHA:2792
HP:0000293	Full cheeks	5075	PAX1	ORPHA:2792
HP:0000293	Full cheeks	83550	GPR101	ORPHA:963
HP:0000293	Full cheeks	9049	AIP	ORPHA:963
HP:0000293	Full cheeks	55764	IFT122	OMIM:218330
HP:0000293	Full cheeks	2626	GATA4	ORPHA:251071
HP:0000293	Full cheeks	22827	PUF60	ORPHA:508488
HP:0000293	Full cheeks	22827	PUF60	OMIM:615583
HP:0000293	Full cheeks	538	ATP7A	ORPHA:565
HP:0000293	Full cheeks	3265	HRAS	ORPHA:3071
HP:0000293	Full cheeks	3265	HRAS	OMIM:218040
HP:0000293	Full cheeks	3265	HRAS	OMIM:137550
HP:0000293	Full cheeks	84314	TMEM107	ORPHA:564
HP:0000293	Full cheeks	26123	TCTN3	ORPHA:564
HP:0000293	Full cheeks	79867	TCTN2	ORPHA:564
HP:0000293	Full cheeks	80776	B9D2	ORPHA:564
HP:0000293	Full cheeks	79600	TCTN1	ORPHA:564
HP:0000293	Full cheeks	57096	RPGRIP1	ORPHA:564
HP:0000293	Full cheeks	79848	CSPP1	ORPHA:564
HP:0000293	Full cheeks	80184	CEP290	ORPHA:564
HP:0000293	Full cheeks	51259	TMEM216	ORPHA:564
HP:0000293	Full cheeks	57545	CC2D2A	ORPHA:564
HP:0000293	Full cheeks	79583	TMEM231	ORPHA:564
HP:0000293	Full cheeks	91147	TMEM67	ORPHA:564
HP:0000293	Full cheeks	79770	TXNDC15	ORPHA:564
HP:0000293	Full cheeks	27077	B9D1	ORPHA:564
HP:0000293	Full cheeks	23322	RPGRIP1L	ORPHA:564
HP:0000293	Full cheeks	54903	MKS1	ORPHA:564
HP:0000293	Full cheeks	65062	TMEM237	ORPHA:564
HP:0000293	Full cheeks	171023	ASXL1	ORPHA:97297
HP:0000293	Full cheeks	3977	LIFR	OMIM:601559
HP:0000293	Full cheeks	5813	PURA	ORPHA:438216
HP:0000293	Full cheeks	4338	MOCS2	OMIM:252160
HP:0000293	Full cheeks	2783	GNB2	OMIM:619503
HP:0000293	Full cheeks	79633	FAT4	OMIM:615546
HP:0000293	Full cheeks	5723	PSPH	ORPHA:79350
HP:0000293	Full cheeks	1906	EDN1	ORPHA:137888
HP:0000293	Full cheeks	1906	EDN1	OMIM:615706
HP:0000293	Full cheeks	5332	PLCB4	ORPHA:137888
HP:0000293	Full cheeks	2773	GNAI3	ORPHA:137888
HP:0000293	Full cheeks	3425	IDUA	OMIM:607014
HP:0000293	Full cheeks	3425	IDUA	OMIM:607016
HP:0000293	Full cheeks	3425	IDUA	ORPHA:93473
HP:0000293	Full cheeks	9244	CRLF1	OMIM:272430
HP:0000293	Full cheeks	9244	CRLF1	ORPHA:1545
HP:0000293	Full cheeks	55975	KLHL7	OMIM:617055
HP:0000293	Full cheeks	57498	KIDINS220	OMIM:617296
HP:0000293	Full cheeks	1182	CLCN3	OMIM:619512
HP:0000293	Full cheeks	2200	FBN1	OMIM:614185
HP:0000293	Full cheeks	6711	SPTBN1	OMIM:619475
HP:0000293	Full cheeks	4337	MOCS1	OMIM:252150
HP:0000293	Full cheeks	5290	PIK3CA	ORPHA:60040
HP:0000293	Full cheeks	51520	LARS1	OMIM:615438
HP:0000293	Full cheeks	9091	PIGQ	OMIM:618548
HP:0000293	Full cheeks	1836	SLC26A2	ORPHA:628
HP:0000293	Full cheeks	6925	TCF4	ORPHA:2896
HP:0000293	Full cheeks	6925	TCF4	OMIM:610954
HP:0000293	Full cheeks	388015	RTL1	ORPHA:96184
HP:0000293	Full cheeks	8788	DLK1	ORPHA:96184
HP:0000293	Full cheeks	55384	MEG3	ORPHA:96184
HP:0000293	Full cheeks	55027	HEATR3	OMIM:620072
HP:0000293	Full cheeks	79718	TBL1XR1	OMIM:602342
HP:0000293	Full cheeks	6452	SH3BP2	ORPHA:184
HP:0000293	Full cheeks	4893	NRAS	OMIM:137550
HP:0000293	Full cheeks	23556	PIGN	ORPHA:280633
HP:0000293	Full cheeks	285590	SH3PXD2B	OMIM:249420
HP:0000293	Full cheeks	51124	IER3IP1	OMIM:614231
HP:0000293	Full cheeks	23067	SETD1B	OMIM:619000
HP:0000293	Full cheeks	51098	IFT52	OMIM:617102
HP:0000293	Full cheeks	3832	KIF11	ORPHA:2526
HP:0000293	Full cheeks	55704	CCDC88A	OMIM:617507
HP:0000293	Full cheeks	2316	FLNA	ORPHA:2484
HP:0000293	Full cheeks	2316	FLNA	ORPHA:1826
HP:0000293	Full cheeks	6901	TAFAZZIN	OMIM:302060
HP:0000293	Full cheeks	84919	PPP1R15B	OMIM:616817
HP:0000293	Full cheeks	84919	PPP1R15B	ORPHA:391408
HP:0000293	Full cheeks	93587	TRMT10A	ORPHA:391408
HP:0000293	Full cheeks	51085	MLXIPL	OMIM:194050
HP:0000293	Full cheeks	2006	ELN	OMIM:194050
HP:0000293	Full cheeks	51322	WAC	ORPHA:284169
HP:0000293	Full cheeks	51322	WAC	OMIM:616708
HP:0000293	Full cheeks	7030	TFE3	OMIM:301066
HP:0000293	Full cheeks	9895	TECPR2	ORPHA:320385
HP:0000293	Full cheeks	23162	MAPK8IP3	OMIM:618443
HP:0000293	Full cheeks	7355	SLC35A2	OMIM:300896
HP:0000293	Full cheeks	259232	NALCN	OMIM:616266
HP:0000293	Full cheeks	23483	TGDS	OMIM:616145
HP:0000293	Full cheeks	23483	TGDS	ORPHA:1388
HP:0000293	Full cheeks	8565	YARS1	OMIM:619418
HP:0000293	Full cheeks	5116	PCNT	ORPHA:2637
HP:0000293	Full cheeks	1968	EIF2S3	ORPHA:85282
HP:0000293	Full cheeks	9757	KMT2B	OMIM:619934
HP:0000293	Full cheeks	3339	HSPG2	OMIM:255800
HP:0000293	Full cheeks	3339	HSPG2	ORPHA:800
HP:0000293	Full cheeks	8813	DPM1	ORPHA:79322
HP:0000293	Full cheeks	71	ACTG1	ORPHA:2995
HP:0000293	Full cheeks	60	ACTB	ORPHA:2995
HP:0000293	Full cheeks	23529	CLCF1	ORPHA:1545
HP:0000293	Full cheeks	178	AGL	ORPHA:366
HP:0000293	Full cheeks	1387	CREBBP	OMIM:618332
HP:0000293	Full cheeks	2033	EP300	OMIM:618333
HP:0000293	Full cheeks	1917	EEF1A2	OMIM:616393
HP:0000293	Full cheeks	9742	IFT140	OMIM:266920
HP:0000293	Full cheeks	1806	DPYD	ORPHA:293948
HP:0000293	Full cheeks	26173	INTS1	OMIM:618571
HP:0000293	Full cheeks	57728	WDR19	OMIM:614378
HP:0000293	Full cheeks	57728	WDR19	OMIM:614376
HP:0000293	Full cheeks	55315	SLC29A3	ORPHA:168569
HP:0000293	Full cheeks	1642	DDB1	OMIM:619426
HP:0000293	Full cheeks	6664	SOX11	OMIM:615866
HP:0000293	Full cheeks	27445	PCLO	OMIM:608027
HP:0000293	Full cheeks	6905	TBCE	ORPHA:93324
HP:0000293	Full cheeks	4054	LTBP3	OMIM:617809
HP:0002263	Exaggerated cupid's bow	3192	HNRNPU	ORPHA:238769
HP:0002263	Exaggerated cupid's bow	6595	SMARCA2	OMIM:619293
HP:0002263	Exaggerated cupid's bow	2239	GPC4	OMIM:301026
HP:0002263	Exaggerated cupid's bow	2239	GPC4	ORPHA:2662
HP:0002263	Exaggerated cupid's bow	5898	RALA	OMIM:619311
HP:0002263	Exaggerated cupid's bow	7355	SLC35A2	OMIM:300896
HP:0002263	Exaggerated cupid's bow	1182	CLCN3	OMIM:619512
HP:0002263	Exaggerated cupid's bow	9320	TRIP12	OMIM:617752
HP:0002263	Exaggerated cupid's bow	51604	PIGT	ORPHA:369837
HP:0002263	Exaggerated cupid's bow	145173	B3GLCT	OMIM:261540
HP:0002263	Exaggerated cupid's bow	145173	B3GLCT	ORPHA:709
HP:0002263	Exaggerated cupid's bow	6659	SOX4	OMIM:618506
HP:0002263	Exaggerated cupid's bow	81857	MED25	ORPHA:464738
HP:0002263	Exaggerated cupid's bow	1788	DNMT3A	OMIM:615879
HP:0002263	Exaggerated cupid's bow	4897	NRCAM	OMIM:619833
HP:0002263	Exaggerated cupid's bow	93627	TBCK	OMIM:616900
HP:0002263	Exaggerated cupid's bow	79753	SNIP1	OMIM:614501
HP:0002263	Exaggerated cupid's bow	773	CACNA1A	ORPHA:2131
HP:0002263	Exaggerated cupid's bow	6507	SLC1A3	ORPHA:2131
HP:0002263	Exaggerated cupid's bow	477	ATP1A2	ORPHA:2131
HP:0002263	Exaggerated cupid's bow	478	ATP1A3	ORPHA:2131
HP:0002263	Exaggerated cupid's bow	64359	NXN	ORPHA:1507
HP:0002263	Exaggerated cupid's bow	4920	ROR2	ORPHA:1507
HP:0002263	Exaggerated cupid's bow	3190	HNRNPK	ORPHA:352665
HP:0002263	Exaggerated cupid's bow	3190	HNRNPK	ORPHA:453504
HP:0002263	Exaggerated cupid's bow	11198	SUPT16H	OMIM:619480
HP:0002263	Exaggerated cupid's bow	374654	KIF7	OMIM:200990
HP:0002263	Exaggerated cupid's bow	3020	H3-3A	OMIM:619720
HP:0002263	Exaggerated cupid's bow	388015	RTL1	ORPHA:254528
HP:0002263	Exaggerated cupid's bow	8788	DLK1	ORPHA:254528
HP:0002263	Exaggerated cupid's bow	55384	MEG3	ORPHA:254528
HP:0002263	Exaggerated cupid's bow	9442	MED27	OMIM:619286
HP:0002263	Exaggerated cupid's bow	57178	ZMIZ1	OMIM:618659
HP:0002263	Exaggerated cupid's bow	9772	TMEM94	OMIM:618316
HP:0002263	Exaggerated cupid's bow	55770	EXOC2	OMIM:619306
HP:0002263	Exaggerated cupid's bow	3720	JARID2	OMIM:620098
HP:0002263	Exaggerated cupid's bow	58499	ZNF462	OMIM:618619
HP:0002263	Exaggerated cupid's bow	4297	KMT2A	OMIM:605130
HP:0002265	Large fleshy ears	79796	ALG9	ORPHA:79328
HP:0002265	Large fleshy ears	79796	ALG9	OMIM:263210
HP:0002265	Large fleshy ears	79718	TBL1XR1	OMIM:602342
HP:0002265	Large fleshy ears	23556	PIGN	OMIM:614080
HP:0002265	Large fleshy ears	23556	PIGN	ORPHA:280633
HP:0002265	Large fleshy ears	4677	NARS1	OMIM:619092
HP:0002265	Large fleshy ears	30000	TNPO2	OMIM:619556
HP:0002265	Large fleshy ears	83696	TRAPPC9	ORPHA:352530
HP:0002265	Large fleshy ears	202018	TAPT1	OMIM:616897
HP:0002265	Large fleshy ears	10584	COLEC10	ORPHA:293843
HP:0002265	Large fleshy ears	5648	MASP1	ORPHA:293843
HP:0002265	Large fleshy ears	78989	COLEC11	ORPHA:293843
HP:0002265	Large fleshy ears	526	ATP6V1B2	ORPHA:3473
HP:0002265	Large fleshy ears	3756	KCNH1	ORPHA:3473
HP:0002265	Large fleshy ears	3782	KCNN3	ORPHA:3473
HP:0002266	Focal clonic seizure	50801	KCNK4	OMIM:618381
HP:0002266	Focal clonic seizure	8504	PEX3	OMIM:617370
HP:0002266	Focal clonic seizure	5649	RELN	OMIM:600512
HP:0002266	Focal clonic seizure	64780	MICAL1	OMIM:600512
HP:0002266	Focal clonic seizure	9211	LGI1	OMIM:600512
HP:0002266	Focal clonic seizure	3785	KCNQ2	ORPHA:1949
HP:0002266	Focal clonic seizure	3785	KCNQ2	ORPHA:306
HP:0002266	Focal clonic seizure	3785	KCNQ2	OMIM:121200
HP:0002266	Focal clonic seizure	3786	KCNQ3	ORPHA:1949
HP:0002266	Focal clonic seizure	3786	KCNQ3	ORPHA:306
HP:0002266	Focal clonic seizure	3786	KCNQ3	OMIM:121201
HP:0002266	Focal clonic seizure	23312	DMXL2	OMIM:618663
HP:0002266	Focal clonic seizure	132158	GLYCTK	OMIM:220120
HP:0002266	Focal clonic seizure	23241	PACS2	OMIM:618067
HP:0002266	Focal clonic seizure	6487	ST3GAL3	OMIM:615006
HP:0002266	Focal clonic seizure	51294	PCDH12	OMIM:251280
HP:0002266	Focal clonic seizure	53616	ADAM22	OMIM:617933
HP:0002266	Focal clonic seizure	55325	UFSP2	OMIM:620028
HP:0002266	Focal clonic seizure	112476	PRRT2	ORPHA:306
HP:0002266	Focal clonic seizure	9568	GABBR2	OMIM:617904
HP:0002266	Focal clonic seizure	6323	SCN1A	OMIM:604403
HP:0002266	Focal clonic seizure	6323	SCN1A	OMIM:607208
HP:0002266	Focal clonic seizure	6323	SCN1A	OMIM:619317
HP:0002266	Focal clonic seizure	6323	SCN1A	ORPHA:33069
HP:0002266	Focal clonic seizure	57526	PCDH19	OMIM:300088
HP:0002266	Focal clonic seizure	57526	PCDH19	ORPHA:33069
HP:0002266	Focal clonic seizure	284058	KANSL1	ORPHA:363965
HP:0002266	Focal clonic seizure	284058	KANSL1	ORPHA:363958
HP:0002266	Focal clonic seizure	6324	SCN1B	OMIM:617350
HP:0002266	Focal clonic seizure	6324	SCN1B	ORPHA:33069
HP:0002266	Focal clonic seizure	23316	CUX2	OMIM:618141
HP:0002266	Focal clonic seizure	23732	FRRS1L	OMIM:616981
HP:0002266	Focal clonic seizure	23732	FRRS1L	ORPHA:725
HP:0002266	Focal clonic seizure	57468	SLC12A5	OMIM:616645
HP:0002266	Focal clonic seizure	50485	SMARCAL1	ORPHA:1830
HP:0002266	Focal clonic seizure	478	ATP1A3	OMIM:619606
HP:0002266	Focal clonic seizure	2782	GNB1	OMIM:616973
HP:0002266	Focal clonic seizure	6334	SCN8A	OMIM:614558
HP:0002266	Focal clonic seizure	2554	GABRA1	OMIM:615744
HP:0002266	Focal clonic seizure	2554	GABRA1	ORPHA:33069
HP:0002266	Focal clonic seizure	2903	GRIN2A	ORPHA:725
HP:0002266	Focal clonic seizure	51343	FZR1	OMIM:620145
HP:0002266	Focal clonic seizure	6335	SCN9A	ORPHA:33069
HP:0002266	Focal clonic seizure	6326	SCN2A	ORPHA:33069
HP:0002266	Focal clonic seizure	2566	GABRG2	ORPHA:33069
HP:0002266	Focal clonic seizure	57465	TBC1D24	OMIM:608105
HP:0002266	Focal clonic seizure	57465	TBC1D24	ORPHA:163727
HP:0002266	Focal clonic seizure	27286	SRPX2	ORPHA:1945
HP:0002266	Focal clonic seizure	781	CACNA2D1	OMIM:620149
HP:0002267	Exaggerated startle response	23769	FLRT1	ORPHA:320406
HP:0002267	Exaggerated startle response	64837	KLC2	ORPHA:320406
HP:0002267	Exaggerated startle response	64837	KLC2	OMIM:609541
HP:0002267	Exaggerated startle response	3074	HEXB	ORPHA:309155
HP:0002267	Exaggerated startle response	3074	HEXB	OMIM:268800
HP:0002267	Exaggerated startle response	22906	TRAK1	OMIM:618201
HP:0002267	Exaggerated startle response	10588	MTHFS	OMIM:618367
HP:0002267	Exaggerated startle response	440	ASNS	OMIM:615574
HP:0002267	Exaggerated startle response	51501	HIKESHI	OMIM:616881
HP:0002267	Exaggerated startle response	23229	ARHGEF9	ORPHA:163985
HP:0002267	Exaggerated startle response	23229	ARHGEF9	OMIM:300607
HP:0002267	Exaggerated startle response	2218	FKTN	OMIM:253800
HP:0002267	Exaggerated startle response	3073	HEXA	OMIM:272800
HP:0002267	Exaggerated startle response	23258	DENND5A	OMIM:617281
HP:0002267	Exaggerated startle response	7259	TSPYL1	OMIM:608800
HP:0002267	Exaggerated startle response	2760	GM2A	ORPHA:309246
HP:0002267	Exaggerated startle response	2760	GM2A	OMIM:272750
HP:0002267	Exaggerated startle response	7750	ZMYM2	OMIM:619522
HP:0002267	Exaggerated startle response	6647	SOD1	OMIM:618598
HP:0002267	Exaggerated startle response	6536	SLC6A9	OMIM:617301
HP:0002267	Exaggerated startle response	221927	BRAT1	OMIM:618056
HP:0002267	Exaggerated startle response	5813	PURA	ORPHA:438216
HP:0002267	Exaggerated startle response	2893	GRIA4	OMIM:617864
HP:0002267	Exaggerated startle response	23043	TNIK	OMIM:617028
HP:0002267	Exaggerated startle response	2741	GLRA1	OMIM:149400
HP:0002267	Exaggerated startle response	10243	GPHN	OMIM:149400
HP:0002267	Exaggerated startle response	9373	PLAA	ORPHA:521426
HP:0002267	Exaggerated startle response	9373	PLAA	OMIM:617527
HP:0002267	Exaggerated startle response	1644	DDC	OMIM:608643
HP:0002267	Exaggerated startle response	9152	SLC6A5	OMIM:614618
HP:0002267	Exaggerated startle response	8911	CACNA1I	OMIM:620114
HP:0002267	Exaggerated startle response	2720	GLB1	ORPHA:79255
HP:0002267	Exaggerated startle response	2743	GLRB	OMIM:614619
HP:0002268	Paroxysmal dystonia	1737	DLAT	OMIM:245348
HP:0002268	Paroxysmal dystonia	1737	DLAT	ORPHA:79244
HP:0002268	Paroxysmal dystonia	1137	CHRNA4	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1135	CHRNA2	ORPHA:98784
HP:0002268	Paroxysmal dystonia	57010	CABP4	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1141	CHRNB2	ORPHA:98784
HP:0002268	Paroxysmal dystonia	57582	KCNT1	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1392	CRH	ORPHA:98784
HP:0002268	Paroxysmal dystonia	9681	DEPDC5	ORPHA:98784
HP:0002268	Paroxysmal dystonia	6513	SLC2A1	OMIM:606777
HP:0002268	Paroxysmal dystonia	23221	RHOBTB2	OMIM:618004
HP:0002268	Paroxysmal dystonia	25953	PNKD	OMIM:118800
HP:0002268	Paroxysmal dystonia	57465	TBC1D24	ORPHA:163727
HP:0002268	Paroxysmal dystonia	57465	TBC1D24	OMIM:608105
HP:0002268	Paroxysmal dystonia	283989	TSEN54	ORPHA:2524
HP:0002268	Paroxysmal dystonia	116461	TSEN15	ORPHA:2524
HP:0002268	Paroxysmal dystonia	79042	TSEN34	ORPHA:2524
HP:0002268	Paroxysmal dystonia	80746	TSEN2	ORPHA:2524
HP:0002268	Paroxysmal dystonia	51091	SEPSECS	ORPHA:2524
HP:0002268	Paroxysmal dystonia	112476	PRRT2	OMIM:128200
HP:0002268	Paroxysmal dystonia	112476	PRRT2	OMIM:602066
HP:0002268	Paroxysmal dystonia	10667	FARS2	ORPHA:466722
HP:0002268	Paroxysmal dystonia	59336	PRDM13	OMIM:619909
HP:0002269	Abnormality of neuronal migration	4750	NEK1	OMIM:263520
HP:0002269	Abnormality of neuronal migration	26128	KIFBP	OMIM:609460
HP:0002269	Abnormality of neuronal migration	26128	KIFBP	ORPHA:66629
HP:0002269	Abnormality of neuronal migration	2290	FOXG1	OMIM:613454
HP:0002269	Abnormality of neuronal migration	23417	MLYCD	OMIM:248360
HP:0002269	Abnormality of neuronal migration	84942	WDR73	OMIM:251300
HP:0002269	Abnormality of neuronal migration	84942	WDR73	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	50814	NSDHL	ORPHA:251383
HP:0002269	Abnormality of neuronal migration	50814	NSDHL	OMIM:300831
HP:0002269	Abnormality of neuronal migration	80232	WDR26	ORPHA:513456
HP:0002269	Abnormality of neuronal migration	9342	SNAP29	ORPHA:66631
HP:0002269	Abnormality of neuronal migration	9342	SNAP29	OMIM:609528
HP:0002269	Abnormality of neuronal migration	3908	LAMA2	ORPHA:258
HP:0002269	Abnormality of neuronal migration	1282	COL4A1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	23499	MACF1	ORPHA:572013
HP:0002269	Abnormality of neuronal migration	23499	MACF1	OMIM:618325
HP:0002269	Abnormality of neuronal migration	170302	ARX	ORPHA:452
HP:0002269	Abnormality of neuronal migration	170302	ARX	OMIM:300215
HP:0002269	Abnormality of neuronal migration	170302	ARX	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	4784	NFIX	OMIM:602535
HP:0002269	Abnormality of neuronal migration	4001	LMNB1	OMIM:619179
HP:0002269	Abnormality of neuronal migration	56915	EXOSC5	OMIM:619576
HP:0002269	Abnormality of neuronal migration	1778	DYNC1H1	OMIM:614563
HP:0002269	Abnormality of neuronal migration	7436	VLDLR	OMIM:224050
HP:0002269	Abnormality of neuronal migration	10716	TBR1	OMIM:606053
HP:0002269	Abnormality of neuronal migration	9896	FIG4	ORPHA:3472
HP:0002269	Abnormality of neuronal migration	9896	FIG4	OMIM:216340
HP:0002269	Abnormality of neuronal migration	55697	VAC14	ORPHA:3472
HP:0002269	Abnormality of neuronal migration	79600	TCTN1	OMIM:614173
HP:0002269	Abnormality of neuronal migration	545	ATR	OMIM:210600
HP:0002269	Abnormality of neuronal migration	55644	OSGEP	OMIM:617729
HP:0002269	Abnormality of neuronal migration	55644	OSGEP	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	2313	FLI1	ORPHA:2308
HP:0002269	Abnormality of neuronal migration	60	ACTB	OMIM:243310
HP:0002269	Abnormality of neuronal migration	60	ACTB	ORPHA:2995
HP:0002269	Abnormality of neuronal migration	71	ACTG1	OMIM:614583
HP:0002269	Abnormality of neuronal migration	71	ACTG1	ORPHA:2995
HP:0002269	Abnormality of neuronal migration	81689	ISCA1	OMIM:617613
HP:0002269	Abnormality of neuronal migration	9508	ADAMTS3	ORPHA:2136
HP:0002269	Abnormality of neuronal migration	147372	CCBE1	ORPHA:2136
HP:0002269	Abnormality of neuronal migration	147372	CCBE1	OMIM:235510
HP:0002269	Abnormality of neuronal migration	51002	TPRKB	OMIM:617731
HP:0002269	Abnormality of neuronal migration	51002	TPRKB	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	57514	ARHGAP31	OMIM:100300
HP:0002269	Abnormality of neuronal migration	5828	PEX2	OMIM:614866
HP:0002269	Abnormality of neuronal migration	23545	ATP6V0A2	OMIM:219200
HP:0002269	Abnormality of neuronal migration	23545	ATP6V0A2	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	1457	CSNK2A1	OMIM:617062
HP:0002269	Abnormality of neuronal migration	1718	DHCR24	ORPHA:35107
HP:0002269	Abnormality of neuronal migration	9326	ZNHIT3	OMIM:260565
HP:0002269	Abnormality of neuronal migration	5192	PEX10	OMIM:614870
HP:0002269	Abnormality of neuronal migration	84340	GFM2	OMIM:618397
HP:0002269	Abnormality of neuronal migration	10319	LAMC3	OMIM:614115
HP:0002269	Abnormality of neuronal migration	79867	TCTN2	OMIM:616654
HP:0002269	Abnormality of neuronal migration	55704	CCDC88A	OMIM:617507
HP:0002269	Abnormality of neuronal migration	5591	PRKDC	OMIM:615966
HP:0002269	Abnormality of neuronal migration	100506658	OCLN	OMIM:251290
HP:0002269	Abnormality of neuronal migration	5296	PIK3R2	OMIM:603387
HP:0002269	Abnormality of neuronal migration	4677	NARS1	OMIM:619091
HP:0002269	Abnormality of neuronal migration	523	ATP6V1A	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	529	ATP6V1E1	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	10463	SLC30A9	OMIM:617595
HP:0002269	Abnormality of neuronal migration	23219	FBXO28	OMIM:619777
HP:0002269	Abnormality of neuronal migration	55005	RMND1	OMIM:614922
HP:0002269	Abnormality of neuronal migration	25782	RAB3GAP2	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	22931	RAB18	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	1376	CPT2	ORPHA:228308
HP:0002269	Abnormality of neuronal migration	79087	ALG12	ORPHA:79324
HP:0002269	Abnormality of neuronal migration	84978	FRMD5	OMIM:620094
HP:0002269	Abnormality of neuronal migration	51075	TMX2	OMIM:618730
HP:0002269	Abnormality of neuronal migration	1496	CTNNA2	OMIM:618174
HP:0002269	Abnormality of neuronal migration	8738	CRADD	OMIM:614499
HP:0002269	Abnormality of neuronal migration	85378	TUBGCP6	OMIM:251270
HP:0002269	Abnormality of neuronal migration	10844	TUBGCP2	OMIM:618737
HP:0002269	Abnormality of neuronal migration	55367	PIDD1	OMIM:619827
HP:0002269	Abnormality of neuronal migration	57122	NUP107	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	10785	WDR4	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	55746	NUP133	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	112858	TP53RK	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	8270	LAGE3	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	6792	CDKL5	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	3736	KCNA1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	9091	PIGQ	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2775	GNAO1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	81603	TRIM8	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2902	GRIN1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	79751	SLC25A22	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	150094	SIK1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	8573	CASK	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	23312	DMXL2	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2917	GRM7	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	11284	PNKP	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	6326	SCN2A	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	51227	PIGP	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	6324	SCN1B	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	4761	NEUROD2	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2108	ETFA	OMIM:231680
HP:0002269	Abnormality of neuronal migration	2109	ETFB	OMIM:231680
HP:0002269	Abnormality of neuronal migration	2110	ETFDH	OMIM:231680
HP:0002269	Abnormality of neuronal migration	348180	CTU2	OMIM:618142
HP:0002269	Abnormality of neuronal migration	388015	RTL1	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	8788	DLK1	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	55384	MEG3	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	79068	FTO	OMIM:612938
HP:0002269	Abnormality of neuronal migration	2271	FH	OMIM:606812
HP:0002269	Abnormality of neuronal migration	3090	HIC1	ORPHA:531
HP:0002269	Abnormality of neuronal migration	7531	YWHAE	ORPHA:531
HP:0002269	Abnormality of neuronal migration	5194	PEX13	OMIM:614883
HP:0002269	Abnormality of neuronal migration	412	STS	ORPHA:281090
HP:0002269	Abnormality of neuronal migration	29968	PSAT1	ORPHA:284417
HP:0002269	Abnormality of neuronal migration	29968	PSAT1	OMIM:616038
HP:0002269	Abnormality of neuronal migration	26276	VPS33B	OMIM:208085
HP:0002269	Abnormality of neuronal migration	7161	TP73	OMIM:619466
HP:0002269	Abnormality of neuronal migration	63894	VIPAS39	OMIM:613404
HP:0002269	Abnormality of neuronal migration	60386	SLC25A19	ORPHA:99742
HP:0002269	Abnormality of neuronal migration	27183	VPS4A	OMIM:619273
HP:0002269	Abnormality of neuronal migration	9488	PIGB	OMIM:618580
HP:0002269	Abnormality of neuronal migration	8450	CUL4B	OMIM:300354
HP:0002269	Abnormality of neuronal migration	1281	COL3A1	OMIM:618343
HP:0002269	Abnormality of neuronal migration	10262	SF3B4	OMIM:154400
HP:0002269	Abnormality of neuronal migration	894	CCND2	ORPHA:83473
HP:0002269	Abnormality of neuronal migration	894	CCND2	OMIM:615938
HP:0002269	Abnormality of neuronal migration	51807	TUBA8	ORPHA:250972
HP:0002269	Abnormality of neuronal migration	6328	SCN3A	OMIM:617938
HP:0002269	Abnormality of neuronal migration	2782	GNB1	ORPHA:488613
HP:0002269	Abnormality of neuronal migration	2782	GNB1	OMIM:616973
HP:0002269	Abnormality of neuronal migration	4867	NPHP1	ORPHA:220497
HP:0002269	Abnormality of neuronal migration	54931	TRMT10C	OMIM:616974
HP:0002269	Abnormality of neuronal migration	79644	SRD5A3	OMIM:612379
HP:0002269	Abnormality of neuronal migration	27185	DISC1	ORPHA:171703
HP:0002269	Abnormality of neuronal migration	8320	EOMES	ORPHA:171703
HP:0002269	Abnormality of neuronal migration	5610	EIF2AK2	OMIM:618877
HP:0002269	Abnormality of neuronal migration	26153	KIF26A	OMIM:620156
HP:0002269	Abnormality of neuronal migration	2067	ERCC1	OMIM:610758
HP:0002269	Abnormality of neuronal migration	9361	LONP1	ORPHA:79243
HP:0002269	Abnormality of neuronal migration	5160	PDHA1	ORPHA:79243
HP:0002269	Abnormality of neuronal migration	8131	NPRL3	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	10641	NPRL2	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	9681	DEPDC5	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	80311	KLHL15	OMIM:300982
HP:0002269	Abnormality of neuronal migration	9401	RECQL4	OMIM:218600
HP:0002269	Abnormality of neuronal migration	4330	MN1	OMIM:618774
HP:0002269	Abnormality of neuronal migration	1822	ATN1	OMIM:618494
HP:0002269	Abnormality of neuronal migration	57572	DOCK6	OMIM:614219
HP:0002269	Abnormality of neuronal migration	4204	MECP2	OMIM:300673
HP:0002269	Abnormality of neuronal migration	23512	SUZ12	OMIM:618786
HP:0002269	Abnormality of neuronal migration	6608	SMO	OMIM:601707
HP:0002269	Abnormality of neuronal migration	526	ATP6V1B2	ORPHA:79500
HP:0002269	Abnormality of neuronal migration	80781	COL18A1	OMIM:267750
HP:0002269	Abnormality of neuronal migration	2222	FDFT1	OMIM:618156
HP:0002269	Abnormality of neuronal migration	3800	KIF5C	OMIM:615282
HP:0002269	Abnormality of neuronal migration	55640	FLVCR2	OMIM:225790
HP:0002269	Abnormality of neuronal migration	79143	MBOAT7	OMIM:617188
HP:0002269	Abnormality of neuronal migration	7284	TUFM	OMIM:610678
HP:0002269	Abnormality of neuronal migration	11128	POLR3A	ORPHA:3455
HP:0002269	Abnormality of neuronal migration	5879	RAC1	OMIM:617751
HP:0002269	Abnormality of neuronal migration	5879	RAC1	ORPHA:500159
HP:0002269	Abnormality of neuronal migration	6651	SON	ORPHA:500150
HP:0002269	Abnormality of neuronal migration	200205	IBA57	OMIM:615330
HP:0002269	Abnormality of neuronal migration	3295	HSD17B4	OMIM:261515
HP:0002269	Abnormality of neuronal migration	8295	TRRAP	OMIM:618454
HP:0002269	Abnormality of neuronal migration	8884	SLC5A6	OMIM:618973
HP:0002269	Abnormality of neuronal migration	57647	DHX37	OMIM:618731
HP:0002269	Abnormality of neuronal migration	10243	GPHN	OMIM:615501
HP:0002269	Abnormality of neuronal migration	80199	FUZ	ORPHA:1136
HP:0002269	Abnormality of neuronal migration	7490	WT1	OMIM:106210
HP:0002269	Abnormality of neuronal migration	5080	PAX6	OMIM:106210
HP:0002269	Abnormality of neuronal migration	168667	BMPER	OMIM:608022
HP:0002269	Abnormality of neuronal migration	79848	CSPP1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	51684	SUFU	ORPHA:475
HP:0002269	Abnormality of neuronal migration	54806	AHI1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	153241	CEP120	ORPHA:475
HP:0002269	Abnormality of neuronal migration	91147	TMEM67	ORPHA:475
HP:0002269	Abnormality of neuronal migration	91147	TMEM67	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	200894	ARL13B	ORPHA:475
HP:0002269	Abnormality of neuronal migration	9731	CEP104	ORPHA:475
HP:0002269	Abnormality of neuronal migration	23247	KATNIP	ORPHA:475
HP:0002269	Abnormality of neuronal migration	219854	TMEM218	ORPHA:475
HP:0002269	Abnormality of neuronal migration	54903	MKS1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	95681	CEP41	ORPHA:475
HP:0002269	Abnormality of neuronal migration	9786	KIAA0586	ORPHA:475
HP:0002269	Abnormality of neuronal migration	56623	INPP5E	ORPHA:475
HP:0002269	Abnormality of neuronal migration	56623	INPP5E	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	80776	B9D2	ORPHA:475
HP:0002269	Abnormality of neuronal migration	10464	PIBF1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	23116	TOGARAM1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	25776	CBY1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	27077	B9D1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	403	ARL3	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65062	TMEM237	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65062	TMEM237	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	3769	KCNJ13	ORPHA:65
HP:0002269	Abnormality of neuronal migration	343035	RD3	ORPHA:65
HP:0002269	Abnormality of neuronal migration	145226	RDH12	ORPHA:65
HP:0002269	Abnormality of neuronal migration	1406	CRX	ORPHA:65
HP:0002269	Abnormality of neuronal migration	64802	NMNAT1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	57096	RPGRIP1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	80184	CEP290	ORPHA:65
HP:0002269	Abnormality of neuronal migration	80184	CEP290	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	10383	TUBB4B	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9742	IFT140	ORPHA:65
HP:0002269	Abnormality of neuronal migration	85015	USP45	ORPHA:65
HP:0002269	Abnormality of neuronal migration	6121	RPE65	ORPHA:65
HP:0002269	Abnormality of neuronal migration	23418	CRB1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	5130	PCYT1A	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9657	IQCB1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	392255	GDF6	ORPHA:65
HP:0002269	Abnormality of neuronal migration	23746	AIPL1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	3000	GUCY2D	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9227	LRAT	ORPHA:65
HP:0002269	Abnormality of neuronal migration	55812	SPATA7	ORPHA:65
HP:0002269	Abnormality of neuronal migration	7287	TULP1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	167691	LCA5	ORPHA:65
HP:0002269	Abnormality of neuronal migration	3614	IMPDH1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	55670	PEX26	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5824	PEX19	ORPHA:44
HP:0002269	Abnormality of neuronal migration	8504	PEX3	ORPHA:44
HP:0002269	Abnormality of neuronal migration	9409	PEX16	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5190	PEX6	ORPHA:44
HP:0002269	Abnormality of neuronal migration	8799	PEX11B	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5830	PEX5	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5193	PEX12	ORPHA:44
HP:0002269	Abnormality of neuronal migration	6197	RPS6KA3	ORPHA:192
HP:0002269	Abnormality of neuronal migration	57187	THOC2	OMIM:300957
HP:0002269	Abnormality of neuronal migration	5155	PDGFB	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	9213	XPR1	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	5159	PDGFRB	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	57462	MYORG	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	6575	SLC20A2	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	58494	JAM2	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	27229	TUBGCP4	ORPHA:2518
HP:0002269	Abnormality of neuronal migration	4683	NBN	ORPHA:647
HP:0002269	Abnormality of neuronal migration	79583	TMEM231	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	51524	TMEM138	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	23090	ZNF423	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	51259	TMEM216	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	51259	TMEM216	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	57545	CC2D2A	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	57545	CC2D2A	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	1859	DYRK1A	ORPHA:464311
HP:0002269	Abnormality of neuronal migration	26047	CNTNAP2	ORPHA:163681
HP:0002269	Abnormality of neuronal migration	10210	TOPORS	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	9851	KIAA0753	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	26123	TCTN3	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	5147	PDE6D	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	317662	FAM149B1	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	374654	KIF7	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	9897	WASHC5	ORPHA:7
HP:0002269	Abnormality of neuronal migration	28952	CCDC22	ORPHA:7
HP:0002269	Abnormality of neuronal migration	23322	RPGRIP1L	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	2261	FGFR3	OMIM:187600
HP:0002269	Abnormality of neuronal migration	2261	FGFR3	ORPHA:1860
HP:0002269	Abnormality of neuronal migration	29899	GPSM2	OMIM:604213
HP:0002269	Abnormality of neuronal migration	23013	SPEN	OMIM:619312
HP:0002269	Abnormality of neuronal migration	100151683	RNU4ATAC	OMIM:210710
HP:0002269	Abnormality of neuronal migration	29957	SLC25A24	OMIM:612289
HP:0002269	Abnormality of neuronal migration	4659	PPP1R12A	OMIM:618820
HP:0002269	Abnormality of neuronal migration	8496	PPFIBP1	OMIM:620024
HP:0002269	Abnormality of neuronal migration	5728	PTEN	ORPHA:744
HP:0002269	Abnormality of neuronal migration	207	AKT1	ORPHA:744
HP:0002269	Abnormality of neuronal migration	3190	HNRNPK	ORPHA:453504
HP:0002269	Abnormality of neuronal migration	3190	HNRNPK	ORPHA:352665
HP:0002269	Abnormality of neuronal migration	29925	GMPPB	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	79147	FKRP	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	79147	FKRP	ORPHA:370980
HP:0002269	Abnormality of neuronal migration	29954	POMT2	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	84197	POMK	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	55624	POMGNT1	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	10585	POMT1	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	10585	POMT1	ORPHA:370980
HP:0002269	Abnormality of neuronal migration	2316	FLNA	OMIM:300049
HP:0002269	Abnormality of neuronal migration	440138	ALG11	ORPHA:280071
HP:0002269	Abnormality of neuronal migration	253959	RALGAPA1	OMIM:618797
HP:0002269	Abnormality of neuronal migration	11041	B4GAT1	OMIM:615287
HP:0002269	Abnormality of neuronal migration	84162	BLTP1	OMIM:617822
HP:0002269	Abnormality of neuronal migration	80210	ARMC9	OMIM:617622
HP:0002269	Abnormality of neuronal migration	284217	LAMA1	OMIM:615960
HP:0002269	Abnormality of neuronal migration	8481	OFD1	OMIM:311200
HP:0002269	Abnormality of neuronal migration	79633	FAT4	ORPHA:314679
HP:0002269	Abnormality of neuronal migration	79633	FAT4	OMIM:615546
HP:0002269	Abnormality of neuronal migration	8642	DCHS1	ORPHA:314679
HP:0002269	Abnormality of neuronal migration	8642	DCHS1	OMIM:601390
HP:0002269	Abnormality of neuronal migration	9968	MED12	OMIM:305450
HP:0002269	Abnormality of neuronal migration	5290	PIK3CA	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	2475	MTOR	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	10000	AKT3	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	55780	ERMARD	ORPHA:75857
HP:0002269	Abnormality of neuronal migration	57688	ZSWIM6	OMIM:603671
HP:0002269	Abnormality of neuronal migration	5189	PEX1	OMIM:214100
HP:0002269	Abnormality of neuronal migration	4131	MAP1B	OMIM:618918
HP:0002269	Abnormality of neuronal migration	284403	WDR62	OMIM:604317
HP:0002269	Abnormality of neuronal migration	284403	WDR62	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	57724	EPG5	OMIM:242840
HP:0002269	Abnormality of neuronal migration	57724	EPG5	ORPHA:1493
HP:0002269	Abnormality of neuronal migration	23007	PLCH1	OMIM:619895
HP:0002269	Abnormality of neuronal migration	4123	MAN2C1	OMIM:619775
HP:0002269	Abnormality of neuronal migration	92255	LMBRD2	OMIM:619694
HP:0002269	Abnormality of neuronal migration	11274	USP18	OMIM:617397
HP:0002269	Abnormality of neuronal migration	729920	CRPPA	OMIM:614643
HP:0002269	Abnormality of neuronal migration	729920	CRPPA	ORPHA:370980
HP:0002269	Abnormality of neuronal migration	2678	GGT1	OMIM:231950
HP:0002269	Abnormality of neuronal migration	3796	KIF2A	OMIM:615411
HP:0002269	Abnormality of neuronal migration	8777	MPDZ	OMIM:615219
HP:0002269	Abnormality of neuronal migration	284058	KANSL1	OMIM:610443
HP:0002269	Abnormality of neuronal migration	5195	PEX14	OMIM:614887
HP:0002269	Abnormality of neuronal migration	219844	HYLS1	OMIM:236680
HP:0002269	Abnormality of neuronal migration	4292	MLH1	OMIM:276300
HP:0002269	Abnormality of neuronal migration	9276	COPB2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	11113	CIT	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	9928	KIF14	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	22995	CEP152	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	55262	TRAPPC14	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	163786	SASS6	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	29920	PYCR2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	84879	MFSD2A	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	4176	MCM7	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	80254	CEP63	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	29081	METTL5	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	23310	NCAPD3	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	55755	CDK5RAP2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	79648	MCPH1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	6491	STIL	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	23141	ANKLE2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	259266	ASPM	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	7109	TRAPPC10	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	1911	PHC1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	6884	TAF13	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	9662	CEP135	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	55835	CENPJ	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	57082	KNL1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	1021	CDK6	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	286204	CRB2	OMIM:219730
HP:0002269	Abnormality of neuronal migration	1641	DCX	OMIM:300067
HP:0002269	Abnormality of neuronal migration	171023	ASXL1	OMIM:605039
HP:0002269	Abnormality of neuronal migration	2009	EML1	OMIM:600348
HP:0002269	Abnormality of neuronal migration	23327	NEDD4L	OMIM:617201
HP:0002269	Abnormality of neuronal migration	84314	TMEM107	OMIM:617563
HP:0002269	Abnormality of neuronal migration	5395	PMS2	OMIM:619101
HP:0002269	Abnormality of neuronal migration	120	ADD3	OMIM:617008
HP:0002269	Abnormality of neuronal migration	2218	FKTN	ORPHA:370980
HP:0002269	Abnormality of neuronal migration	8239	USP9X	ORPHA:480880
HP:0002269	Abnormality of neuronal migration	8239	USP9X	OMIM:300968
HP:0002269	Abnormality of neuronal migration	51008	ASCC1	OMIM:616867
HP:0002269	Abnormality of neuronal migration	5457	POU4F1	ORPHA:314647
HP:0002269	Abnormality of neuronal migration	23261	CAMTA1	ORPHA:314647
HP:0002269	Abnormality of neuronal migration	80144	FRAS1	OMIM:219000
HP:0002269	Abnormality of neuronal migration	57511	COG6	OMIM:614576
HP:0002269	Abnormality of neuronal migration	283989	TSEN54	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	116461	TSEN15	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	79042	TSEN34	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	80746	TSEN2	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	51091	SEPSECS	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	9373	PLAA	ORPHA:521426
HP:0002269	Abnormality of neuronal migration	9373	PLAA	OMIM:617527
HP:0002269	Abnormality of neuronal migration	26227	PHGDH	ORPHA:79351
HP:0002269	Abnormality of neuronal migration	6311	ATXN2	ORPHA:98756
HP:0002269	Abnormality of neuronal migration	79718	TBL1XR1	ORPHA:487825
HP:0002269	Abnormality of neuronal migration	23229	ARHGEF9	OMIM:300607
HP:0002269	Abnormality of neuronal migration	347733	TUBB2B	OMIM:610031
HP:0002269	Abnormality of neuronal migration	375	ARF1	ORPHA:98892
HP:0002269	Abnormality of neuronal migration	10564	ARFGEF2	ORPHA:98892
HP:0002269	Abnormality of neuronal migration	10564	ARFGEF2	OMIM:608097
HP:0002269	Abnormality of neuronal migration	11253	MAN1B1	ORPHA:397941
HP:0002269	Abnormality of neuronal migration	26005	C2CD3	ORPHA:434179
HP:0002269	Abnormality of neuronal migration	26005	C2CD3	OMIM:615948
HP:0002269	Abnormality of neuronal migration	23522	KAT6B	OMIM:606170
HP:0002269	Abnormality of neuronal migration	4897	NRCAM	OMIM:619833
HP:0002269	Abnormality of neuronal migration	4329	ALDH6A1	OMIM:614105
HP:0002269	Abnormality of neuronal migration	25914	RTTN	ORPHA:468631
HP:0002269	Abnormality of neuronal migration	1000	CDH2	OMIM:618929
HP:0002269	Abnormality of neuronal migration	9839	ZEB2	ORPHA:261537
HP:0002269	Abnormality of neuronal migration	9839	ZEB2	ORPHA:261552
HP:0002269	Abnormality of neuronal migration	1717	DHCR7	OMIM:270400
HP:0002269	Abnormality of neuronal migration	10733	PLK4	OMIM:616171
HP:0002269	Abnormality of neuronal migration	5162	PDHB	ORPHA:255138
HP:0002269	Abnormality of neuronal migration	1436	CSF1R	OMIM:618476
HP:0002269	Abnormality of neuronal migration	22983	MAST1	OMIM:618273
HP:0002269	Abnormality of neuronal migration	29123	ANKRD11	ORPHA:261250
HP:0002269	Abnormality of neuronal migration	55790	CSGALNACT1	OMIM:618870
HP:0002269	Abnormality of neuronal migration	2332	FMR1	OMIM:300624
HP:0002269	Abnormality of neuronal migration	84148	KAT8	OMIM:618974
HP:0002269	Abnormality of neuronal migration	8449	DHX16	OMIM:618733
HP:0002269	Abnormality of neuronal migration	2879	GPX4	OMIM:250220
HP:0002269	Abnormality of neuronal migration	5354	PLP1	ORPHA:280210
HP:0002269	Abnormality of neuronal migration	148789	B3GALNT2	OMIM:615181
HP:0002269	Abnormality of neuronal migration	10329	RXYLT1	OMIM:615041
HP:0002269	Abnormality of neuronal migration	84892	POMGNT2	OMIM:614830
HP:0002269	Abnormality of neuronal migration	23265	EXOC7	OMIM:619072
HP:0002269	Abnormality of neuronal migration	84065	TMEM222	OMIM:619470
HP:0002269	Abnormality of neuronal migration	10128	LRPPRC	OMIM:220111
HP:0002269	Abnormality of neuronal migration	10617	STAMBP	OMIM:614261
HP:0002269	Abnormality of neuronal migration	55627	SMPD4	OMIM:618622
HP:0002269	Abnormality of neuronal migration	116115	ZNF526	OMIM:619877
HP:0002269	Abnormality of neuronal migration	8405	SPOP	OMIM:618828
HP:0002269	Abnormality of neuronal migration	1062	CENPE	OMIM:616051
HP:0002269	Abnormality of neuronal migration	51124	IER3IP1	OMIM:614231
HP:0002269	Abnormality of neuronal migration	5859	QARS1	OMIM:615760
HP:0002269	Abnormality of neuronal migration	10978	CLP1	ORPHA:411493
HP:0002269	Abnormality of neuronal migration	10978	CLP1	OMIM:615803
HP:0002269	Abnormality of neuronal migration	51741	WWOX	OMIM:616211
HP:0002269	Abnormality of neuronal migration	9442	MED27	OMIM:619286
HP:0002269	Abnormality of neuronal migration	91875	TTC5	OMIM:619244
HP:0002269	Abnormality of neuronal migration	387787	LIPT2	OMIM:617668
HP:0002269	Abnormality of neuronal migration	10293	TRAIP	OMIM:616777
HP:0002269	Abnormality of neuronal migration	7280	TUBB2A	OMIM:615763
HP:0002269	Abnormality of neuronal migration	51112	TRAPPC12	OMIM:617669
HP:0002269	Abnormality of neuronal migration	79693	YRDC	OMIM:619609
HP:0002269	Abnormality of neuronal migration	63925	ZNF335	OMIM:615095
HP:0002269	Abnormality of neuronal migration	63925	ZNF335	ORPHA:329228
HP:0002269	Abnormality of neuronal migration	7518	XRCC4	OMIM:616541
HP:0002269	Abnormality of neuronal migration	440	ASNS	OMIM:615574
HP:0002269	Abnormality of neuronal migration	84823	LMNB2	OMIM:616540
HP:0002269	Abnormality of neuronal migration	84823	LMNB2	OMIM:619180
HP:0002269	Abnormality of neuronal migration	6597	SMARCA4	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6598	SMARCB1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6659	SOX4	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	8289	ARID1A	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	5977	DPF2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6601	SMARCC2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6602	SMARCD1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	57492	ARID1B	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	196528	ARID2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6605	SMARCE1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6664	SOX11	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	267010	RNU12	OMIM:620208
HP:0002269	Abnormality of neuronal migration	2744	GLS	OMIM:618328
HP:0002269	Abnormality of neuronal migration	10015	PDCD6IP	OMIM:620047
HP:0002269	Abnormality of neuronal migration	84081	NSRP1	OMIM:620001
HP:0002269	Abnormality of neuronal migration	1781	DYNC1I2	OMIM:618492
HP:0002269	Abnormality of neuronal migration	51645	PPIL1	OMIM:619301
HP:0002269	Abnormality of neuronal migration	51362	CDC40	OMIM:619302
HP:0002269	Abnormality of neuronal migration	3832	KIF11	OMIM:152950
HP:0002269	Abnormality of neuronal migration	4700	NDUFA6	OMIM:618253
HP:0002269	Abnormality of neuronal migration	51053	GMNN	OMIM:616835
HP:0002269	Abnormality of neuronal migration	29980	DONSON	OMIM:617604
HP:0002269	Abnormality of neuronal migration	29980	DONSON	OMIM:251230
HP:0002269	Abnormality of neuronal migration	27245	AHDC1	OMIM:615829
HP:0002269	Abnormality of neuronal migration	23299	BICD2	OMIM:618291
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	23162	MAPK8IP3	OMIM:618443
HP:0002269	Abnormality of neuronal migration	22930	RAB3GAP1	OMIM:600118
HP:0002269	Abnormality of neuronal migration	10367	MICU1	OMIM:615673
HP:0002269	Abnormality of neuronal migration	6472	SHMT2	OMIM:619121
HP:0002269	Abnormality of neuronal migration	28514	DLL1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	2253	FGF8	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	6496	SIX3	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	7050	TGIF1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	4838	NODAL	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	6469	SHH	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	7546	ZIC2	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	2619	GAS1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	84976	DISP1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	2736	GLI2	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	8928	FOXH1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	5727	PTCH1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	50937	CDON	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	477	ATP1A2	OMIM:619605
HP:0002269	Abnormality of neuronal migration	478	ATP1A3	OMIM:619606
HP:0002269	Abnormality of neuronal migration	128637	TBC1D20	OMIM:615663
HP:0002269	Abnormality of neuronal migration	54187	NANS	OMIM:610442
HP:0002269	Abnormality of neuronal migration	9289	ADGRG1	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	5297	PI4KA	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	27286	SRPX2	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	5048	PAFAH1B1	ORPHA:95232
HP:0002269	Abnormality of neuronal migration	25942	SIN3A	OMIM:613406
HP:0002269	Abnormality of neuronal migration	387119	CEP85L	OMIM:618873
HP:0002269	Abnormality of neuronal migration	1020	CDK5	OMIM:616342
HP:0002269	Abnormality of neuronal migration	160418	TMTC3	OMIM:617255
HP:0002269	Abnormality of neuronal migration	7283	TUBG1	OMIM:615412
HP:0002269	Abnormality of neuronal migration	1605	DAG1	OMIM:616538
HP:0002269	Abnormality of neuronal migration	1605	DAG1	ORPHA:370997
HP:0002269	Abnormality of neuronal migration	9215	LARGE1	OMIM:236670
HP:0002269	Abnormality of neuronal migration	57020	VPS35L	OMIM:619135
HP:0002269	Abnormality of neuronal migration	65250	CPLANE1	OMIM:277170
HP:0002269	Abnormality of neuronal migration	23036	ZNF292	OMIM:619188
HP:0002269	Abnormality of neuronal migration	55656	INTS8	OMIM:618572
HP:0002269	Abnormality of neuronal migration	57178	ZMIZ1	OMIM:618659
HP:0002269	Abnormality of neuronal migration	9692	PRORP	OMIM:619737
HP:0002269	Abnormality of neuronal migration	10815	CPLX1	ORPHA:352582
HP:0002269	Abnormality of neuronal migration	57465	TBC1D24	ORPHA:352582
HP:0002269	Abnormality of neuronal migration	22859	ADGRL1	OMIM:620065
HP:0002269	Abnormality of neuronal migration	10297	APC2	OMIM:618677
HP:0002269	Abnormality of neuronal migration	1284	COL4A2	OMIM:614483
HP:0002269	Abnormality of neuronal migration	7846	TUBA1A	ORPHA:467166
HP:0002269	Abnormality of neuronal migration	10381	TUBB3	ORPHA:467166
HP:0002269	Abnormality of neuronal migration	3912	LAMB1	ORPHA:352682
HP:0002269	Abnormality of neuronal migration	203068	TUBB	OMIM:615771
HP:0002269	Abnormality of neuronal migration	22858	CILK1	OMIM:612651
HP:0002269	Abnormality of neuronal migration	4953	ODC1	OMIM:619075
HP:0002269	Abnormality of neuronal migration	10524	KAT5	OMIM:619103
HP:0002269	Abnormality of neuronal migration	10300	KATNB1	OMIM:616212
HP:0002269	Abnormality of neuronal migration	10300	KATNB1	ORPHA:89844
HP:0002269	Abnormality of neuronal migration	5649	RELN	ORPHA:89844
HP:0002269	Abnormality of neuronal migration	54820	NDE1	ORPHA:89844
HP:0012480	Abnormal cerebral vein morphology	4488	MSX2	ORPHA:60015
HP:0012480	Abnormal cerebral vein morphology	60529	ALX4	ORPHA:60015
HP:0012480	Abnormal cerebral vein morphology	2050	EPHB4	ORPHA:137667
HP:0012480	Abnormal cerebral vein morphology	2050	EPHB4	OMIM:618196
HP:0012480	Abnormal cerebral vein morphology	5921	RASA1	ORPHA:137667
HP:0012480	Abnormal cerebral vein morphology	1906	EDN1	ORPHA:137888
HP:0012480	Abnormal cerebral vein morphology	5332	PLCB4	ORPHA:137888
HP:0012480	Abnormal cerebral vein morphology	2773	GNAI3	ORPHA:137888
HP:0012484	Abnormal dense granules	1130	LYST	OMIM:214500
HP:0012484	Abnormal dense granules	861	RUNX1	OMIM:601399
HP:0012484	Abnormal dense granules	84343	HPS3	OMIM:614072
HP:0012484	Abnormal dense granules	89781	HPS4	OMIM:614073
HP:0012484	Abnormal dense granules	11234	HPS5	OMIM:614074
HP:0012484	Abnormal dense granules	8546	AP3B1	OMIM:608233
HP:0012484	Abnormal dense granules	63915	BLOC1S5	OMIM:619172
HP:0012484	Abnormal dense granules	64376	IKZF5	OMIM:619130
HP:0012486	Myelitis	51284	TLR7	OMIM:301080
HP:0012487	Cerebellopontine angle arachnoid cyst	22827	PUF60	ORPHA:508498
HP:0012488	Intraventricular arachnoid cyst	79971	WLS	OMIM:619648
HP:0012489	Suprasellar arachnoid cyst	79583	TMEM231	ORPHA:2752
HP:0012483	Abnormal alpha granules	8328	GFI1B	OMIM:187900
HP:0012483	Abnormal alpha granules	861	RUNX1	OMIM:601399
HP:0012483	Abnormal alpha granules	23218	NBEAL2	OMIM:139090
HP:0012483	Abnormal alpha granules	64376	IKZF5	OMIM:619130
HP:0012483	Abnormal alpha granules	2623	GATA1	OMIM:314050
HP:0009429	Aplasia of the distal phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0032892	Infection-related seizure	11160	ERLIN2	ORPHA:280384
HP:0032892	Infection-related seizure	2562	GABRB3	ORPHA:64280
HP:0032892	Infection-related seizure	8912	CACNA1H	ORPHA:64280
HP:0032892	Infection-related seizure	8629	JRK	ORPHA:64280
HP:0032892	Infection-related seizure	8629	JRK	ORPHA:307
HP:0032892	Infection-related seizure	6134	RPL10	OMIM:300998
HP:0032892	Infection-related seizure	6134	RPL10	ORPHA:459070
HP:0032892	Infection-related seizure	57468	SLC12A5	OMIM:616685
HP:0032892	Infection-related seizure	348980	HCN1	OMIM:615871
HP:0032892	Infection-related seizure	348980	HCN1	OMIM:618482
HP:0032892	Infection-related seizure	348980	HCN1	ORPHA:36387
HP:0032892	Infection-related seizure	351	APP	ORPHA:324723
HP:0032892	Infection-related seizure	23446	SLC44A1	OMIM:618868
HP:0032892	Infection-related seizure	4598	MVK	OMIM:260920
HP:0032892	Infection-related seizure	55823	VPS11	ORPHA:466934
HP:0032892	Infection-related seizure	8924	HERC2	OMIM:615516
HP:0032892	Infection-related seizure	1788	DNMT3A	OMIM:615879
HP:0032892	Infection-related seizure	785	CACNB4	OMIM:613855
HP:0032892	Infection-related seizure	785	CACNB4	ORPHA:307
HP:0032892	Infection-related seizure	785	CACNB4	OMIM:607682
HP:0032892	Infection-related seizure	114327	EFHC1	ORPHA:307
HP:0032892	Infection-related seizure	114327	EFHC1	ORPHA:1941
HP:0032892	Infection-related seizure	2563	GABRD	ORPHA:307
HP:0032892	Infection-related seizure	2563	GABRD	OMIM:613060
HP:0032892	Infection-related seizure	2563	GABRD	ORPHA:36387
HP:0032892	Infection-related seizure	1181	CLCN2	ORPHA:307
HP:0032892	Infection-related seizure	22858	CILK1	ORPHA:307
HP:0032892	Infection-related seizure	22858	CILK1	OMIM:617924
HP:0032892	Infection-related seizure	23126	POGZ	ORPHA:468678
HP:0032892	Infection-related seizure	55209	SETD5	ORPHA:404440
HP:0032892	Infection-related seizure	154881	KCTD7	ORPHA:263516
HP:0032892	Infection-related seizure	5745	PTH1R	OMIM:600002
HP:0032892	Infection-related seizure	4784	NFIX	ORPHA:447980
HP:0032892	Infection-related seizure	2581	GALC	ORPHA:206443
HP:0032892	Infection-related seizure	80232	WDR26	ORPHA:513456
HP:0032892	Infection-related seizure	387119	CEP85L	OMIM:618873
HP:0032892	Infection-related seizure	112755	STX1B	OMIM:616172
HP:0032892	Infection-related seizure	112755	STX1B	ORPHA:36387
HP:0032892	Infection-related seizure	1841	DTYMK	OMIM:619847
HP:0032892	Infection-related seizure	51111	KMT5B	OMIM:617788
HP:0032892	Infection-related seizure	5184	PEPD	OMIM:170100
HP:0032892	Infection-related seizure	2782	GNB1	OMIM:616973
HP:0032892	Infection-related seizure	2891	GRIA2	OMIM:618917
HP:0032892	Infection-related seizure	6904	TBCD	ORPHA:496641
HP:0032892	Infection-related seizure	90161	HS6ST2	OMIM:301025
HP:0032892	Infection-related seizure	55777	MBD5	OMIM:156200
HP:0032892	Infection-related seizure	4001	LMNB1	OMIM:619179
HP:0032892	Infection-related seizure	815	CAMK2A	OMIM:617798
HP:0032892	Infection-related seizure	267010	RNU12	OMIM:620208
HP:0032892	Infection-related seizure	267010	RNU12	ORPHA:512260
HP:0032892	Infection-related seizure	51319	RSRC1	OMIM:618402
HP:0032892	Infection-related seizure	27315	PGAP2	OMIM:614207
HP:0032892	Infection-related seizure	7920	ABHD16A	OMIM:619735
HP:0032892	Infection-related seizure	549	AUH	OMIM:250950
HP:0032892	Infection-related seizure	4566	MT-TK	ORPHA:1349
HP:0032892	Infection-related seizure	8604	SLC25A12	OMIM:612949
HP:0032892	Infection-related seizure	6390	SDHB	OMIM:619224
HP:0032892	Infection-related seizure	2744	GLS	OMIM:618412
HP:0032892	Infection-related seizure	26040	SETBP1	OMIM:616078
HP:0032892	Infection-related seizure	2903	GRIN2A	ORPHA:289266
HP:0032892	Infection-related seizure	2903	GRIN2A	ORPHA:1945
HP:0032892	Infection-related seizure	523	ATP6V1A	OMIM:618012
HP:0032892	Infection-related seizure	23314	SATB2	OMIM:612313
HP:0032892	Infection-related seizure	55623	THUMPD1	OMIM:619989
HP:0032892	Infection-related seizure	84059	ADGRV1	ORPHA:36387
HP:0032892	Infection-related seizure	84059	ADGRV1	OMIM:604352
HP:0032892	Infection-related seizure	610	HCN2	OMIM:602477
HP:0032892	Infection-related seizure	3737	KCNA2	OMIM:616366
HP:0032892	Infection-related seizure	11154	AP4S1	OMIM:614067
HP:0032892	Infection-related seizure	64849	SLC13A3	OMIM:618384
HP:0032892	Infection-related seizure	22866	CNKSR2	OMIM:301008
HP:0032892	Infection-related seizure	6711	SPTBN1	OMIM:619475
HP:0032892	Infection-related seizure	8659	ALDH4A1	ORPHA:79101
HP:0032892	Infection-related seizure	55343	SLC35C1	OMIM:266265
HP:0032892	Infection-related seizure	10236	HNRNPR	OMIM:620073
HP:0032892	Infection-related seizure	4094	MAF	ORPHA:1272
HP:0032892	Infection-related seizure	79143	MBOAT7	OMIM:617188
HP:0032892	Infection-related seizure	1806	DPYD	ORPHA:1675
HP:0032892	Infection-related seizure	55717	WDR11	OMIM:620237
HP:0032892	Infection-related seizure	2593	GAMT	OMIM:612736
HP:0032892	Infection-related seizure	2556	GABRA3	OMIM:301091
HP:0032892	Infection-related seizure	55252	ASXL2	OMIM:617190
HP:0032892	Infection-related seizure	34	ACADM	ORPHA:42
HP:0032892	Infection-related seizure	54802	TRIT1	OMIM:617873
HP:0032892	Infection-related seizure	23219	FBXO28	OMIM:619777
HP:0032892	Infection-related seizure	27286	SRPX2	ORPHA:1945
HP:0032892	Infection-related seizure	84706	GPT2	ORPHA:477673
HP:0032892	Infection-related seizure	284361	EMC10	OMIM:619264
HP:0032892	Infection-related seizure	3763	KCNJ6	OMIM:614098
HP:0032892	Infection-related seizure	57094	CPA6	OMIM:614418
HP:0032892	Infection-related seizure	6792	CDKL5	ORPHA:1934
HP:0032892	Infection-related seizure	3736	KCNA1	ORPHA:1934
HP:0032892	Infection-related seizure	9091	PIGQ	ORPHA:1934
HP:0032892	Infection-related seizure	2775	GNAO1	ORPHA:1934
HP:0032892	Infection-related seizure	81603	TRIM8	ORPHA:1934
HP:0032892	Infection-related seizure	2902	GRIN1	ORPHA:1934
HP:0032892	Infection-related seizure	79751	SLC25A22	ORPHA:1934
HP:0032892	Infection-related seizure	150094	SIK1	ORPHA:1934
HP:0032892	Infection-related seizure	8573	CASK	ORPHA:1934
HP:0032892	Infection-related seizure	23312	DMXL2	ORPHA:1934
HP:0032892	Infection-related seizure	2917	GRM7	ORPHA:1934
HP:0032892	Infection-related seizure	170302	ARX	ORPHA:1934
HP:0032892	Infection-related seizure	11284	PNKP	ORPHA:1934
HP:0032892	Infection-related seizure	51227	PIGP	ORPHA:1934
HP:0032892	Infection-related seizure	4761	NEUROD2	ORPHA:1934
HP:0032892	Infection-related seizure	283989	TSEN54	ORPHA:2524
HP:0032892	Infection-related seizure	116461	TSEN15	ORPHA:2524
HP:0032892	Infection-related seizure	79042	TSEN34	ORPHA:2524
HP:0032892	Infection-related seizure	80746	TSEN2	ORPHA:2524
HP:0032892	Infection-related seizure	51091	SEPSECS	ORPHA:2524
HP:0032892	Infection-related seizure	10157	AASS	ORPHA:2203
HP:0032892	Infection-related seizure	6328	SCN3A	OMIM:617935
HP:0032892	Infection-related seizure	3785	KCNQ2	ORPHA:1949
HP:0032892	Infection-related seizure	3785	KCNQ2	ORPHA:306
HP:0032892	Infection-related seizure	3786	KCNQ3	ORPHA:1949
HP:0032892	Infection-related seizure	3786	KCNQ3	ORPHA:306
HP:0032892	Infection-related seizure	10815	CPLX1	ORPHA:352582
HP:0032892	Infection-related seizure	57465	TBC1D24	ORPHA:352582
HP:0032892	Infection-related seizure	51322	WAC	ORPHA:466950
HP:0032892	Infection-related seizure	1859	DYRK1A	ORPHA:464311
HP:0032892	Infection-related seizure	6513	SLC2A1	ORPHA:1942
HP:0032892	Infection-related seizure	8831	SYNGAP1	ORPHA:1942
HP:0032892	Infection-related seizure	1173	AP2M1	ORPHA:1942
HP:0032892	Infection-related seizure	340533	NEXMIF	ORPHA:1942
HP:0032892	Infection-related seizure	1106	CHD2	ORPHA:1942
HP:0032892	Infection-related seizure	6529	SLC6A1	ORPHA:1942
HP:0032892	Infection-related seizure	8131	NPRL3	ORPHA:98820
HP:0032892	Infection-related seizure	10641	NPRL2	ORPHA:98820
HP:0032892	Infection-related seizure	9681	DEPDC5	ORPHA:98820
HP:0032892	Infection-related seizure	57526	PCDH19	ORPHA:101039
HP:0032892	Infection-related seizure	57526	PCDH19	ORPHA:33069
HP:0032892	Infection-related seizure	25839	COG4	ORPHA:263501
HP:0032892	Infection-related seizure	84188	FAR1	OMIM:619338
HP:0032892	Infection-related seizure	5138	PDE2A	ORPHA:31709
HP:0032892	Infection-related seizure	6334	SCN8A	ORPHA:31709
HP:0032892	Infection-related seizure	112476	PRRT2	ORPHA:31709
HP:0032892	Infection-related seizure	112476	PRRT2	ORPHA:569
HP:0032892	Infection-related seizure	6335	SCN9A	ORPHA:33069
HP:0032892	Infection-related seizure	6326	SCN2A	ORPHA:33069
HP:0032892	Infection-related seizure	2554	GABRA1	ORPHA:33069
HP:0032892	Infection-related seizure	6323	SCN1A	ORPHA:33069
HP:0032892	Infection-related seizure	6323	SCN1A	ORPHA:569
HP:0032892	Infection-related seizure	6324	SCN1B	ORPHA:33069
HP:0032892	Infection-related seizure	2566	GABRG2	ORPHA:33069
HP:0032892	Infection-related seizure	135	ADORA2A	ORPHA:363549
HP:0032892	Infection-related seizure	773	CACNA1A	ORPHA:569
HP:0032892	Infection-related seizure	477	ATP1A2	ORPHA:569
HP:0002270	Abnormality of the autonomic nervous system	1534	CYB561	OMIM:618182
HP:0002270	Abnormality of the autonomic nervous system	8518	ELP1	OMIM:223900
HP:0002270	Abnormality of the autonomic nervous system	8518	ELP1	ORPHA:1764
HP:0002270	Abnormality of the autonomic nervous system	6622	SNCA	OMIM:605543
HP:0002270	Abnormality of the autonomic nervous system	1621	DBH	ORPHA:230
HP:0002270	Abnormality of the autonomic nervous system	1621	DBH	OMIM:223360
HP:0002270	Abnormality of the autonomic nervous system	1136	CHRNA3	OMIM:191800
HP:0002270	Abnormality of the autonomic nervous system	29926	GMPPA	OMIM:615510
HP:0002270	Abnormality of the autonomic nervous system	1585	CYP11B2	OMIM:610600
HP:0002270	Abnormality of the autonomic nervous system	1585	CYP11B2	ORPHA:556030
HP:0002270	Abnormality of the autonomic nervous system	538	ATP7A	OMIM:304150
HP:0002270	Abnormality of the autonomic nervous system	27235	COQ2	OMIM:146500
HP:0002270	Abnormality of the autonomic nervous system	8086	AAAS	OMIM:231550
HP:0002270	Abnormality of the autonomic nervous system	1277	COL1A1	ORPHA:287
HP:0002270	Abnormality of the autonomic nervous system	1289	COL5A1	ORPHA:287
HP:0002270	Abnormality of the autonomic nervous system	1290	COL5A2	ORPHA:287
HP:0002270	Abnormality of the autonomic nervous system	2632	GBE1	OMIM:263570
HP:0002270	Abnormality of the autonomic nervous system	857	CAV1	OMIM:606721
HP:0002270	Abnormality of the autonomic nervous system	3594	IL12RB1	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	23534	TNPO3	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	3592	IL12A	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	6689	SPIB	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	5450	POU2AF1	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	9966	TNFSF15	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	79258	MMEL1	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	3663	IRF5	ORPHA:186
HP:0002270	Abnormality of the autonomic nervous system	3074	HEXB	OMIM:268800
HP:0002270	Abnormality of the autonomic nervous system	51142	CHCHD2	OMIM:616710
HP:0002270	Abnormality of the autonomic nervous system	80208	SPG11	ORPHA:2822
HP:0002270	Abnormality of the autonomic nervous system	4001	LMNB1	ORPHA:99027
HP:0002270	Abnormality of the autonomic nervous system	79600	TCTN1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	79848	CSPP1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	51684	SUFU	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	54806	AHI1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	54806	AHI1	ORPHA:220493
HP:0002270	Abnormality of the autonomic nervous system	153241	CEP120	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	153241	CEP120	ORPHA:220493
HP:0002270	Abnormality of the autonomic nervous system	65250	CPLANE1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	91147	TMEM67	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	200894	ARL13B	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	9731	CEP104	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	219844	HYLS1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	23247	KATNIP	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	219854	TMEM218	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	54903	MKS1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	54903	MKS1	ORPHA:220493
HP:0002270	Abnormality of the autonomic nervous system	95681	CEP41	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	95681	CEP41	ORPHA:220493
HP:0002270	Abnormality of the autonomic nervous system	9786	KIAA0586	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	56623	INPP5E	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	56623	INPP5E	ORPHA:220493
HP:0002270	Abnormality of the autonomic nervous system	79867	TCTN2	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	80776	B9D2	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	10464	PIBF1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	80210	ARMC9	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	23116	TOGARAM1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	25776	CBY1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	27077	B9D1	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	403	ARL3	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	65062	TMEM237	ORPHA:475
HP:0002270	Abnormality of the autonomic nervous system	65062	TMEM237	ORPHA:220497
HP:0002270	Abnormality of the autonomic nervous system	65062	TMEM237	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	25970	SH2B1	ORPHA:261222
HP:0002270	Abnormality of the autonomic nervous system	6535	SLC6A8	OMIM:300352
HP:0002270	Abnormality of the autonomic nervous system	6535	SLC6A8	ORPHA:52503
HP:0002270	Abnormality of the autonomic nervous system	10262	SF3B4	OMIM:154400
HP:0002270	Abnormality of the autonomic nervous system	8260	NAA10	OMIM:309800
HP:0002270	Abnormality of the autonomic nervous system	54880	BCOR	OMIM:309800
HP:0002270	Abnormality of the autonomic nervous system	26128	KIFBP	OMIM:609460
HP:0002270	Abnormality of the autonomic nervous system	26128	KIFBP	ORPHA:66629
HP:0002270	Abnormality of the autonomic nervous system	6023	RMRP	OMIM:250250
HP:0002270	Abnormality of the autonomic nervous system	6023	RMRP	ORPHA:175
HP:0002270	Abnormality of the autonomic nervous system	23556	PIGN	ORPHA:2059
HP:0002270	Abnormality of the autonomic nervous system	8195	MKKS	OMIM:236700
HP:0002270	Abnormality of the autonomic nervous system	8195	MKKS	ORPHA:2473
HP:0002270	Abnormality of the autonomic nervous system	84720	PIGO	OMIM:614749
HP:0002270	Abnormality of the autonomic nervous system	84720	PIGO	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	57167	SALL4	OMIM:607323
HP:0002270	Abnormality of the autonomic nervous system	57167	SALL4	ORPHA:959
HP:0002270	Abnormality of the autonomic nervous system	6925	TCF4	ORPHA:2896
HP:0002270	Abnormality of the autonomic nervous system	64324	NSD1	ORPHA:821
HP:0002270	Abnormality of the autonomic nervous system	29072	SETD2	ORPHA:821
HP:0002270	Abnormality of the autonomic nervous system	10297	APC2	ORPHA:821
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3	ORPHA:661
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3	OMIM:613265
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3	ORPHA:897
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3	OMIM:613712
HP:0002270	Abnormality of the autonomic nervous system	627	BDNF	ORPHA:661
HP:0002270	Abnormality of the autonomic nervous system	283446	MYO1H	ORPHA:661
HP:0002270	Abnormality of the autonomic nervous system	215	ABCD1	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	6608	SMO	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	6720	SREBF1	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	223117	SEMA3D	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	OMIM:277580
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	ORPHA:897
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	OMIM:600155
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	ORPHA:895
HP:0002270	Abnormality of the autonomic nervous system	1910	EDNRB	OMIM:600501
HP:0002270	Abnormality of the autonomic nervous system	10512	SEMA3C	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	4902	NRTN	ORPHA:388
HP:0002270	Abnormality of the autonomic nervous system	51360	MBTPS2	OMIM:308205
HP:0002270	Abnormality of the autonomic nervous system	51360	MBTPS2	ORPHA:2273
HP:0002270	Abnormality of the autonomic nervous system	51360	MBTPS2	ORPHA:85284
HP:0002270	Abnormality of the autonomic nervous system	83479	DDX59	ORPHA:2919
HP:0002270	Abnormality of the autonomic nervous system	83479	DDX59	OMIM:174300
HP:0002270	Abnormality of the autonomic nervous system	2623	GATA1	OMIM:190685
HP:0002270	Abnormality of the autonomic nervous system	23322	RPGRIP1L	ORPHA:220497
HP:0002270	Abnormality of the autonomic nervous system	4867	NPHP1	ORPHA:220497
HP:0002270	Abnormality of the autonomic nervous system	3845	KRAS	ORPHA:3339
HP:0002270	Abnormality of the autonomic nervous system	72	ACTG2	ORPHA:2604
HP:0002270	Abnormality of the autonomic nervous system	72	ACTG2	OMIM:155310
HP:0002270	Abnormality of the autonomic nervous system	1717	DHCR7	ORPHA:818
HP:0002270	Abnormality of the autonomic nervous system	1717	DHCR7	OMIM:270400
HP:0002270	Abnormality of the autonomic nervous system	4286	MITF	ORPHA:897
HP:0002270	Abnormality of the autonomic nervous system	4286	MITF	ORPHA:895
HP:0002270	Abnormality of the autonomic nervous system	6591	SNAI2	ORPHA:2884
HP:0002270	Abnormality of the autonomic nervous system	6591	SNAI2	ORPHA:895
HP:0002270	Abnormality of the autonomic nervous system	3815	KIT	ORPHA:2884
HP:0002270	Abnormality of the autonomic nervous system	3815	KIT	OMIM:172800
HP:0002270	Abnormality of the autonomic nervous system	55650	PIGV	OMIM:239300
HP:0002270	Abnormality of the autonomic nervous system	55650	PIGV	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	7846	TUBA1A	ORPHA:171680
HP:0002270	Abnormality of the autonomic nervous system	170302	ARX	ORPHA:452
HP:0002270	Abnormality of the autonomic nervous system	7299	TYR	ORPHA:895
HP:0002270	Abnormality of the autonomic nervous system	4254	KITLG	ORPHA:895
HP:0002270	Abnormality of the autonomic nervous system	5077	PAX3	ORPHA:894
HP:0002270	Abnormality of the autonomic nervous system	5077	PAX3	OMIM:148820
HP:0002270	Abnormality of the autonomic nervous system	84992	PIGY	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	93210	PGAP3	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	284098	PIGW	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	27315	PGAP2	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	27315	PGAP2	OMIM:614207
HP:0002270	Abnormality of the autonomic nervous system	9487	PIGL	ORPHA:247262
HP:0002270	Abnormality of the autonomic nervous system	84100	ARL6	OMIM:209900
HP:0002270	Abnormality of the autonomic nervous system	79140	CCDC28B	OMIM:209900
HP:0002270	Abnormality of the autonomic nervous system	582	BBS1	OMIM:209900
HP:0002270	Abnormality of the autonomic nervous system	672	BRCA1	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	10459	MAD2L2	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	7516	XRCC2	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	29089	UBE2T	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	675	BRCA2	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	55120	FANCL	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2177	FANCD2	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2175	FANCA	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2187	FANCB	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2176	FANCC	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2178	FANCE	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2188	FANCF	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2189	FANCG	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	5888	RAD51	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	5889	RAD51C	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	55159	RFWD3	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	83990	BRIP1	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	57697	FANCM	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	79728	PALB2	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	84464	SLX4	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	2072	ERCC4	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	55215	FANCI	ORPHA:84
HP:0002270	Abnormality of the autonomic nervous system	546	ATRX	ORPHA:847
HP:0002270	Abnormality of the autonomic nervous system	1312	COMT	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	221037	JMJD1C	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	2812	GP1BB	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	6239	RREB1	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	6899	TBX1	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	7290	HIRA	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	9632	SEC24C	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	7353	UFD1	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	421	ARVCF	ORPHA:567
HP:0002270	Abnormality of the autonomic nervous system	79583	TMEM231	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	51524	TMEM138	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	23090	ZNF423	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	80184	CEP290	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	51259	TMEM216	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	57545	CC2D2A	ORPHA:2318
HP:0002270	Abnormality of the autonomic nervous system	2294	FOXF1	ORPHA:210122
HP:0002270	Abnormality of the autonomic nervous system	3897	L1CAM	OMIM:304100
HP:0002270	Abnormality of the autonomic nervous system	3897	L1CAM	ORPHA:1497
HP:0002270	Abnormality of the autonomic nervous system	26040	SETBP1	ORPHA:798
HP:0002270	Abnormality of the autonomic nervous system	2260	FGFR1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	2260	FGFR1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	28514	DLL1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	28514	DLL1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	28514	DLL1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	28514	DLL1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	10735	STAG2	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	10735	STAG2	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	2253	FGF8	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	2253	FGF8	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	2253	FGF8	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	2253	FGF8	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	8243	SMC1A	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	6496	SIX3	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	6496	SIX3	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	6496	SIX3	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	6496	SIX3	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	7050	TGIF1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	7050	TGIF1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	7050	TGIF1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	7050	TGIF1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	4838	NODAL	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	4838	NODAL	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	4838	NODAL	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	4838	NODAL	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	6469	SHH	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	6469	SHH	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	6469	SHH	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	6469	SHH	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	7546	ZIC2	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	7546	ZIC2	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	7546	ZIC2	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	7546	ZIC2	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	6491	STIL	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	6491	STIL	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	6491	STIL	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	6491	STIL	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	2619	GAS1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	2619	GAS1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	2619	GAS1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	2619	GAS1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	84976	DISP1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	84976	DISP1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	84976	DISP1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	84976	DISP1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	2736	GLI2	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	2736	GLI2	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	2736	GLI2	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	2736	GLI2	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	8928	FOXH1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	8928	FOXH1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	8928	FOXH1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	8928	FOXH1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	5727	PTCH1	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	5727	PTCH1	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	5727	PTCH1	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	5727	PTCH1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	50937	CDON	ORPHA:220386
HP:0002270	Abnormality of the autonomic nervous system	50937	CDON	ORPHA:93926
HP:0002270	Abnormality of the autonomic nervous system	50937	CDON	ORPHA:93924
HP:0002270	Abnormality of the autonomic nervous system	50937	CDON	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	5885	RAD21	OMIM:611376
HP:0002270	Abnormality of the autonomic nervous system	56652	TWNK	ORPHA:1186
HP:0002270	Abnormality of the autonomic nervous system	23007	PLCH1	ORPHA:93925
HP:0002270	Abnormality of the autonomic nervous system	2645	GCK	ORPHA:79299
HP:0002270	Abnormality of the autonomic nervous system	10558	SPTLC1	ORPHA:36386
HP:0002270	Abnormality of the autonomic nervous system	25923	ATL3	ORPHA:36386
HP:0002270	Abnormality of the autonomic nervous system	9517	SPTLC2	ORPHA:36386
HP:0002270	Abnormality of the autonomic nervous system	51062	ATL1	ORPHA:36386
HP:0002270	Abnormality of the autonomic nervous system	23095	KIF1B	OMIM:256700
HP:0002270	Abnormality of the autonomic nervous system	5979	RET	OMIM:142623
HP:0002270	Abnormality of the autonomic nervous system	9839	ZEB2	OMIM:235730
HP:0002270	Abnormality of the autonomic nervous system	410	ARSA	ORPHA:309271
HP:0002270	Abnormality of the autonomic nervous system	5660	PSAP	ORPHA:309271
HP:0002270	Abnormality of the autonomic nervous system	3953	LEPR	ORPHA:179494
HP:0002270	Abnormality of the autonomic nervous system	23317	DNAJC13	ORPHA:411602
HP:0002270	Abnormality of the autonomic nervous system	1981	EIF4G1	ORPHA:411602
HP:0002270	Abnormality of the autonomic nervous system	55737	VPS35	ORPHA:411602
HP:0002270	Abnormality of the autonomic nervous system	26058	GIGYF2	ORPHA:411602
HP:0002270	Abnormality of the autonomic nervous system	3952	LEP	ORPHA:66628
HP:0002270	Abnormality of the autonomic nervous system	11128	POLR3A	ORPHA:447896
HP:0002270	Abnormality of the autonomic nervous system	2783	GNB2	OMIM:619503
HP:0002270	Abnormality of the autonomic nervous system	84570	COL25A1	ORPHA:91411
HP:0002270	Abnormality of the autonomic nervous system	79776	ZFHX4	ORPHA:91411
HP:0002270	Abnormality of the autonomic nervous system	2064	ERBB2	OMIM:619465
HP:0002270	Abnormality of the autonomic nervous system	6663	SOX10	OMIM:609136
HP:0002270	Abnormality of the autonomic nervous system	2668	GDNF	OMIM:613711
HP:0002270	Abnormality of the autonomic nervous system	6530	SLC6A2	OMIM:604715
HP:0002270	Abnormality of the autonomic nervous system	6335	SCN9A	OMIM:133020
HP:0002270	Abnormality of the autonomic nervous system	6335	SCN9A	OMIM:243000
HP:0002270	Abnormality of the autonomic nervous system	5621	PRNP	ORPHA:282166
HP:0002270	Abnormality of the autonomic nervous system	5621	PRNP	OMIM:600072
HP:0002270	Abnormality of the autonomic nervous system	4287	ATXN3	OMIM:109150
HP:0002270	Abnormality of the autonomic nervous system	6492	SIM1	ORPHA:369873
HP:0002270	Abnormality of the autonomic nervous system	11280	SCN11A	OMIM:615552
HP:0002270	Abnormality of the autonomic nervous system	11280	SCN11A	OMIM:615548
HP:0002270	Abnormality of the autonomic nervous system	55823	VPS11	OMIM:616683
HP:0002270	Abnormality of the autonomic nervous system	55823	VPS11	ORPHA:466934
HP:0002270	Abnormality of the autonomic nervous system	8929	PHOX2B	OMIM:209880
HP:0002270	Abnormality of the autonomic nervous system	8929	PHOX2B	ORPHA:99803
HP:0002270	Abnormality of the autonomic nervous system	22948	CCT5	ORPHA:139578
HP:0002270	Abnormality of the autonomic nervous system	54832	VPS13C	OMIM:616840
HP:0002270	Abnormality of the autonomic nervous system	54832	VPS13C	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	6328	SCN3A	OMIM:617935
HP:0002270	Abnormality of the autonomic nervous system	773	CACNA1A	ORPHA:2131
HP:0002270	Abnormality of the autonomic nervous system	6507	SLC1A3	ORPHA:2131
HP:0002270	Abnormality of the autonomic nervous system	477	ATP1A2	ORPHA:2131
HP:0002270	Abnormality of the autonomic nervous system	478	ATP1A3	ORPHA:2131
HP:0002270	Abnormality of the autonomic nervous system	23345	SYNE1	OMIM:610743
HP:0002270	Abnormality of the autonomic nervous system	493856	CISD2	ORPHA:3463
HP:0002270	Abnormality of the autonomic nervous system	7466	WFS1	ORPHA:3463
HP:0002270	Abnormality of the autonomic nervous system	2670	GFAP	ORPHA:363722
HP:0002270	Abnormality of the autonomic nervous system	7276	TTR	ORPHA:85447
HP:0002270	Abnormality of the autonomic nervous system	7276	TTR	ORPHA:85451
HP:0002270	Abnormality of the autonomic nervous system	7276	TTR	OMIM:105210
HP:0002270	Abnormality of the autonomic nervous system	25828	TXN2	ORPHA:478029
HP:0002270	Abnormality of the autonomic nervous system	9568	GABBR2	OMIM:617903
HP:0002270	Abnormality of the autonomic nervous system	11152	WDR45	ORPHA:329284
HP:0002270	Abnormality of the autonomic nervous system	11152	WDR45	OMIM:300894
HP:0002270	Abnormality of the autonomic nervous system	429	ASCL1	ORPHA:99803
HP:0002270	Abnormality of the autonomic nervous system	4204	MECP2	ORPHA:778
HP:0002270	Abnormality of the autonomic nervous system	801	CALM1	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	3753	KCNE1	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	3762	KCNJ5	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	805	CALM2	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	6910	TBX5	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	6336	SCN10A	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	3757	KCNH2	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	9992	KCNE2	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	10142	AKAP9	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	9722	NOS1AP	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	775	CACNA1C	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	3784	KCNQ1	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	10345	TRDN	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	6331	SCN5A	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	6330	SCN4B	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	808	CALM3	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	6640	SNTA1	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	859	CAV3	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	287	ANK2	ORPHA:101016
HP:0002270	Abnormality of the autonomic nervous system	7259	TSPYL1	ORPHA:168593
HP:0002270	Abnormality of the autonomic nervous system	51	ACOX1	OMIM:618960
HP:0002270	Abnormality of the autonomic nervous system	6571	SLC18A2	OMIM:618049
HP:0002270	Abnormality of the autonomic nervous system	2717	GLA	OMIM:301500
HP:0002270	Abnormality of the autonomic nervous system	3977	LIFR	ORPHA:3206
HP:0002270	Abnormality of the autonomic nervous system	3977	LIFR	OMIM:601559
HP:0002270	Abnormality of the autonomic nervous system	1889	ECE1	OMIM:613870
HP:0002270	Abnormality of the autonomic nervous system	10381	TUBB3	ORPHA:300570
HP:0002270	Abnormality of the autonomic nervous system	8398	PLA2G6	ORPHA:35069
HP:0002270	Abnormality of the autonomic nervous system	2332	FMR1	ORPHA:93256
HP:0002270	Abnormality of the autonomic nervous system	5649	RELN	ORPHA:101046
HP:0002270	Abnormality of the autonomic nervous system	9211	LGI1	ORPHA:101046
HP:0002270	Abnormality of the autonomic nervous system	9681	DEPDC5	ORPHA:101046
HP:0002270	Abnormality of the autonomic nervous system	25793	FBXO7	ORPHA:171695
HP:0002270	Abnormality of the autonomic nervous system	5981	RFC1	OMIM:614575
HP:0002270	Abnormality of the autonomic nervous system	221927	BRAT1	OMIM:614498
HP:0002270	Abnormality of the autonomic nervous system	23230	VPS13A	ORPHA:2388
HP:0002270	Abnormality of the autonomic nervous system	4914	NTRK1	OMIM:256800
HP:0002270	Abnormality of the autonomic nervous system	2065	ERBB3	OMIM:243180
HP:0002270	Abnormality of the autonomic nervous system	11315	PARK7	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	7345	UCHL1	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	27429	HTRA2	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	120892	LRRK2	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	9829	DNAJC6	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	5420	PODXL	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	65018	PINK1	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	8867	SYNJ1	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	5071	PRKN	ORPHA:2828
HP:0002270	Abnormality of the autonomic nervous system	2747	GLUD2	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	126	ADH1C	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	4137	MAPT	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	2629	GBA1	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	4929	NR4A2	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	6908	TBP	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	4576	MT-TT	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	9627	SNCAIP	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	6311	ATXN2	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	6315	ATXN8OS	OMIM:168600
HP:0002270	Abnormality of the autonomic nervous system	5498	PPOX	ORPHA:79473
HP:0002270	Abnormality of the autonomic nervous system	2934	GSN	OMIM:105120
HP:0002270	Abnormality of the autonomic nervous system	567	B2M	ORPHA:314652
HP:0007165	Periventricular heterotopia	375	ARF1	ORPHA:98892
HP:0007165	Periventricular heterotopia	4131	MAP1B	ORPHA:98892
HP:0007165	Periventricular heterotopia	2316	FLNA	ORPHA:98892
HP:0007165	Periventricular heterotopia	23327	NEDD4L	ORPHA:98892
HP:0007165	Periventricular heterotopia	160418	TMTC3	ORPHA:98892
HP:0007165	Periventricular heterotopia	10564	ARFGEF2	ORPHA:98892
HP:0007165	Periventricular heterotopia	10564	ARFGEF2	OMIM:608097
HP:0007165	Periventricular heterotopia	55780	ERMARD	ORPHA:98892
HP:0007165	Periventricular heterotopia	55780	ERMARD	ORPHA:75857
HP:0007165	Periventricular heterotopia	11253	MAN1B1	ORPHA:397941
HP:0007165	Periventricular heterotopia	23007	PLCH1	OMIM:619895
HP:0007165	Periventricular heterotopia	26005	C2CD3	ORPHA:434179
HP:0007165	Periventricular heterotopia	26005	C2CD3	OMIM:615948
HP:0007165	Periventricular heterotopia	23522	KAT6B	OMIM:606170
HP:0007165	Periventricular heterotopia	29957	SLC25A24	OMIM:612289
HP:0007165	Periventricular heterotopia	4897	NRCAM	OMIM:619833
HP:0007165	Periventricular heterotopia	4329	ALDH6A1	OMIM:614105
HP:0007165	Periventricular heterotopia	25914	RTTN	ORPHA:468631
HP:0007165	Periventricular heterotopia	1000	CDH2	OMIM:618929
HP:0007165	Periventricular heterotopia	9839	ZEB2	ORPHA:261537
HP:0007165	Periventricular heterotopia	9839	ZEB2	ORPHA:261552
HP:0007165	Periventricular heterotopia	1717	DHCR7	OMIM:270400
HP:0007165	Periventricular heterotopia	10733	PLK4	OMIM:616171
HP:0007165	Periventricular heterotopia	5162	PDHB	ORPHA:255138
HP:0007165	Periventricular heterotopia	1436	CSF1R	OMIM:618476
HP:0007165	Periventricular heterotopia	10300	KATNB1	OMIM:616212
HP:0007165	Periventricular heterotopia	22983	MAST1	OMIM:618273
HP:0007165	Periventricular heterotopia	29123	ANKRD11	ORPHA:261250
HP:0007165	Periventricular heterotopia	55790	CSGALNACT1	OMIM:618870
HP:0007165	Periventricular heterotopia	2332	FMR1	OMIM:300624
HP:0007165	Periventricular heterotopia	84148	KAT8	OMIM:618974
HP:0007165	Periventricular heterotopia	8449	DHX16	OMIM:618733
HP:0007165	Periventricular heterotopia	57020	VPS35L	OMIM:619135
HP:0007165	Periventricular heterotopia	65250	CPLANE1	OMIM:277170
HP:0007165	Periventricular heterotopia	23036	ZNF292	OMIM:619188
HP:0007165	Periventricular heterotopia	55656	INTS8	OMIM:618572
HP:0007165	Periventricular heterotopia	57178	ZMIZ1	OMIM:618659
HP:0007165	Periventricular heterotopia	9692	PRORP	OMIM:619737
HP:0007165	Periventricular heterotopia	79633	FAT4	OMIM:615546
HP:0007165	Periventricular heterotopia	10815	CPLX1	ORPHA:352582
HP:0007165	Periventricular heterotopia	57465	TBC1D24	ORPHA:352582
HP:0007165	Periventricular heterotopia	8642	DCHS1	OMIM:601390
HP:0007165	Periventricular heterotopia	22859	ADGRL1	OMIM:620065
HP:0007165	Periventricular heterotopia	57688	ZSWIM6	OMIM:603671
HP:0007165	Periventricular heterotopia	7846	TUBA1A	OMIM:611603
HP:0007165	Periventricular heterotopia	10297	APC2	OMIM:618677
HP:0002273	Tetraparesis	84065	TMEM222	OMIM:619470
HP:0002273	Tetraparesis	5354	PLP1	ORPHA:280224
HP:0002273	Tetraparesis	5354	PLP1	ORPHA:280219
HP:0002273	Tetraparesis	3763	KCNJ6	ORPHA:435628
HP:0002273	Tetraparesis	3763	KCNJ6	OMIM:614098
HP:0002273	Tetraparesis	11340	EXOSC8	OMIM:616081
HP:0002273	Tetraparesis	8243	SMC1A	OMIM:301044
HP:0002273	Tetraparesis	10617	STAMBP	OMIM:614261
HP:0002273	Tetraparesis	51399	TRAPPC4	OMIM:618741
HP:0002273	Tetraparesis	84879	MFSD2A	OMIM:616486
HP:0002273	Tetraparesis	6659	SOX4	OMIM:618506
HP:0002273	Tetraparesis	4337	MOCS1	OMIM:252150
HP:0002273	Tetraparesis	7355	SLC35A2	ORPHA:356961
HP:0002273	Tetraparesis	84334	COA8	ORPHA:436271
HP:0002273	Tetraparesis	84334	COA8	OMIM:619061
HP:0002273	Tetraparesis	90624	LYRM7	OMIM:615838
HP:0002273	Tetraparesis	57679	ALS2	OMIM:606353
HP:0002273	Tetraparesis	57679	ALS2	ORPHA:247604
HP:0002273	Tetraparesis	57679	ALS2	OMIM:205100
HP:0002273	Tetraparesis	6571	SLC18A2	ORPHA:352649
HP:0002273	Tetraparesis	11160	ERLIN2	ORPHA:247604
HP:0002273	Tetraparesis	170302	ARX	OMIM:308350
HP:0002273	Tetraparesis	5660	PSAP	OMIM:249900
HP:0002273	Tetraparesis	5631	PRPS1	ORPHA:423479
HP:0002273	Tetraparesis	100147744	RNU7-1	OMIM:619487
HP:0002273	Tetraparesis	60558	GUF1	OMIM:617065
HP:0002273	Tetraparesis	6647	SOD1	OMIM:618598
HP:0002273	Tetraparesis	51601	LIPT1	OMIM:616299
HP:0002273	Tetraparesis	549	AUH	ORPHA:67046
HP:0002273	Tetraparesis	6905	TBCE	ORPHA:496756
HP:0002273	Tetraparesis	387787	LIPT2	OMIM:617668
HP:0002273	Tetraparesis	473	RERE	OMIM:616975
HP:0002273	Tetraparesis	4010	LMX1B	ORPHA:495818
HP:0002273	Tetraparesis	6812	STXBP1	ORPHA:495818
HP:0002273	Tetraparesis	10157	AASS	ORPHA:2203
HP:0002273	Tetraparesis	79152	FA2H	ORPHA:171629
HP:0002273	Tetraparesis	79152	FA2H	OMIM:612319
HP:0002273	Tetraparesis	64135	IFIH1	OMIM:615846
HP:0002273	Tetraparesis	498	ATP5F1A	OMIM:620358
HP:0002273	Tetraparesis	5048	PAFAH1B1	OMIM:607432
HP:0002273	Tetraparesis	79944	L2HGDH	OMIM:236792
HP:0002273	Tetraparesis	79944	L2HGDH	ORPHA:79314
HP:0002273	Tetraparesis	2192	FBLN1	ORPHA:404451
HP:0002273	Tetraparesis	284403	WDR62	OMIM:604317
HP:0002273	Tetraparesis	51204	TACO1	OMIM:619052
HP:0002273	Tetraparesis	2937	GSS	OMIM:266130
HP:0002273	Tetraparesis	65055	REEP1	ORPHA:101011
HP:0002273	Tetraparesis	348	APOE	OMIM:607822
HP:0002273	Tetraparesis	5663	PSEN1	OMIM:607822
HP:0002273	Tetraparesis	4001	LMNB1	OMIM:619179
HP:0002273	Tetraparesis	4508	MT-ATP6	ORPHA:225154
HP:0002273	Tetraparesis	23636	NUP62	ORPHA:225154
HP:0002273	Tetraparesis	103	ADAR	ORPHA:225154
HP:0002273	Tetraparesis	7143	TNR	OMIM:619653
HP:0002273	Tetraparesis	3899	AFF3	OMIM:619297
HP:0002273	Tetraparesis	215	ABCD1	ORPHA:139396
HP:0002273	Tetraparesis	6389	SDHA	ORPHA:3208
HP:0002273	Tetraparesis	6390	SDHB	ORPHA:3208
HP:0002273	Tetraparesis	6392	SDHD	ORPHA:3208
HP:0002273	Tetraparesis	644096	SDHAF1	ORPHA:3208
HP:0002273	Tetraparesis	29960	MRM2	OMIM:618567
HP:0002273	Tetraparesis	8398	PLA2G6	ORPHA:35069
HP:0002273	Tetraparesis	10195	ALG3	ORPHA:79321
HP:0002273	Tetraparesis	10195	ALG3	OMIM:601110
HP:0002273	Tetraparesis	124454	EARS2	OMIM:614924
HP:0002273	Tetraparesis	29968	PSAT1	ORPHA:284417
HP:0002273	Tetraparesis	27247	NFU1	OMIM:605711
HP:0002273	Tetraparesis	1968	EIF2S3	OMIM:300148
HP:0002273	Tetraparesis	58497	PRUNE1	OMIM:617481
HP:0002273	Tetraparesis	58497	PRUNE1	ORPHA:544469
HP:0002273	Tetraparesis	84188	FAR1	ORPHA:438178
HP:0002273	Tetraparesis	84188	FAR1	OMIM:616154
HP:0002273	Tetraparesis	221692	PHACTR1	OMIM:618298
HP:0002273	Tetraparesis	523	ATP6V1A	OMIM:618012
HP:0002273	Tetraparesis	3785	KCNQ2	OMIM:613720
HP:0002273	Tetraparesis	56978	PRDM8	ORPHA:324290
HP:0002273	Tetraparesis	54808	DYM	ORPHA:239
HP:0002273	Tetraparesis	2760	GM2A	OMIM:272750
HP:0002273	Tetraparesis	3028	HSD17B10	ORPHA:391428
HP:0002273	Tetraparesis	9131	AIFM1	OMIM:300232
HP:0002273	Tetraparesis	3094	HINT1	ORPHA:324442
HP:0002273	Tetraparesis	4750	NEK1	OMIM:617892
HP:0002273	Tetraparesis	51728	POLR3K	OMIM:619310
HP:0002273	Tetraparesis	10564	ARFGEF2	OMIM:608097
HP:0002273	Tetraparesis	4860	PNP	OMIM:613179
HP:0002273	Tetraparesis	4038	LRP4	OMIM:614305
HP:0002273	Tetraparesis	7360	UGP2	OMIM:618744
HP:0002273	Tetraparesis	7415	VCP	OMIM:167320
HP:0002273	Tetraparesis	7415	VCP	ORPHA:275872
HP:0002273	Tetraparesis	7415	VCP	OMIM:613954
HP:0002273	Tetraparesis	773	CACNA1A	ORPHA:2131
HP:0002273	Tetraparesis	6507	SLC1A3	ORPHA:2131
HP:0002273	Tetraparesis	477	ATP1A2	ORPHA:2131
HP:0002273	Tetraparesis	478	ATP1A3	ORPHA:2131
HP:0002273	Tetraparesis	1282	COL4A1	OMIM:175780
HP:0002273	Tetraparesis	5428	POLG	OMIM:203700
HP:0002273	Tetraparesis	2521	FUS	ORPHA:275872
HP:0002273	Tetraparesis	8878	SQSTM1	ORPHA:275872
HP:0002273	Tetraparesis	23435	TARDBP	ORPHA:275872
HP:0002273	Tetraparesis	29110	TBK1	ORPHA:275872
HP:0002273	Tetraparesis	400916	CHCHD10	ORPHA:275872
HP:0002273	Tetraparesis	80704	SLC19A3	OMIM:607483
HP:0002273	Tetraparesis	80704	SLC19A3	ORPHA:263410
HP:0002273	Tetraparesis	203228	C9orf72	OMIM:105550
HP:0002273	Tetraparesis	8050	PDHX	ORPHA:255182
HP:0002273	Tetraparesis	26580	BSCL2	ORPHA:363400
HP:0002273	Tetraparesis	26580	BSCL2	OMIM:615924
HP:0002273	Tetraparesis	2571	GAD1	OMIM:619124
HP:0002273	Tetraparesis	128240	NAXE	OMIM:617186
HP:0002273	Tetraparesis	79587	CARS2	ORPHA:477774
HP:0002273	Tetraparesis	79587	CARS2	OMIM:616672
HP:0002273	Tetraparesis	4722	NDUFS3	OMIM:618230
HP:0002273	Tetraparesis	23287	AGTPBP1	OMIM:618276
HP:0002273	Tetraparesis	347733	TUBB2B	OMIM:610031
HP:0002273	Tetraparesis	6506	SLC1A2	OMIM:617105
HP:0002273	Tetraparesis	2581	GALC	ORPHA:206448
HP:0002273	Tetraparesis	7345	UCHL1	OMIM:615491
HP:0002273	Tetraparesis	340533	NEXMIF	ORPHA:85277
HP:0002273	Tetraparesis	1757	SARDH	ORPHA:3129
HP:0002273	Tetraparesis	55679	LIMS2	OMIM:616827
HP:0002273	Tetraparesis	64802	NMNAT1	OMIM:619260
HP:0002273	Tetraparesis	2632	GBE1	OMIM:263570
HP:0002273	Tetraparesis	1468	SLC25A10	OMIM:618972
HP:0002273	Tetraparesis	8792	TNFRSF11A	OMIM:602080
HP:0002273	Tetraparesis	5498	PPOX	ORPHA:79473
HP:0002273	Tetraparesis	2697	GJA1	OMIM:164200
HP:0002273	Tetraparesis	760	CA2	ORPHA:2785
HP:0000726	Dementia	5274	SERPINI1	OMIM:604218
HP:0000726	Dementia	5621	PRNP	ORPHA:282166
HP:0000726	Dementia	5621	PRNP	OMIM:600072
HP:0000726	Dementia	5621	PRNP	OMIM:603218
HP:0000726	Dementia	5621	PRNP	ORPHA:356
HP:0000726	Dementia	5621	PRNP	ORPHA:157941
HP:0000726	Dementia	5621	PRNP	OMIM:123400
HP:0000726	Dementia	5621	PRNP	OMIM:606688
HP:0000726	Dementia	5621	PRNP	OMIM:137440
HP:0000726	Dementia	4287	ATXN3	OMIM:109150
HP:0000726	Dementia	8029	CUBN	OMIM:261100
HP:0000726	Dementia	9782	MATR3	OMIM:606070
HP:0000726	Dementia	9782	MATR3	ORPHA:600
HP:0000726	Dementia	1593	CYP27A1	OMIM:213700
HP:0000726	Dementia	4693	NDP	OMIM:310600
HP:0000726	Dementia	51816	ADA2	ORPHA:820
HP:0000726	Dementia	5521	PPP2R2B	OMIM:604326
HP:0000726	Dementia	5521	PPP2R2B	ORPHA:98762
HP:0000726	Dementia	154881	KCTD7	ORPHA:263516
HP:0000726	Dementia	3073	HEXA	OMIM:272800
HP:0000726	Dementia	6311	ATXN2	OMIM:183090
HP:0000726	Dementia	6311	ATXN2	ORPHA:98756
HP:0000726	Dementia	6311	ATXN2	OMIM:168600
HP:0000726	Dementia	5155	PDGFB	OMIM:615483
HP:0000726	Dementia	8722	CTSF	OMIM:615362
HP:0000726	Dementia	3664	IRF6	OMIM:119500
HP:0000726	Dementia	100996717	NOTCH2NLC	ORPHA:2289
HP:0000726	Dementia	100996717	NOTCH2NLC	OMIM:603472
HP:0000726	Dementia	54982	CLN6	OMIM:204300
HP:0000726	Dementia	5159	PDGFRB	OMIM:615007
HP:0000726	Dementia	54476	RNF216	OMIM:212840
HP:0000726	Dementia	54476	RNF216	ORPHA:1173
HP:0000726	Dementia	1476	CSTB	OMIM:254800
HP:0000726	Dementia	1476	CSTB	ORPHA:308
HP:0000726	Dementia	1161	ERCC8	OMIM:216400
HP:0000726	Dementia	5428	POLG	ORPHA:298
HP:0000726	Dementia	5428	POLG	OMIM:203700
HP:0000726	Dementia	5428	POLG	OMIM:607459
HP:0000726	Dementia	5428	POLG	OMIM:603041
HP:0000726	Dementia	1890	TYMP	ORPHA:298
HP:0000726	Dementia	1890	TYMP	OMIM:603041
HP:0000726	Dementia	3980	LIG3	ORPHA:298
HP:0000726	Dementia	50484	RRM2B	ORPHA:298
HP:0000726	Dementia	51324	SPG21	OMIM:248900
HP:0000726	Dementia	51324	SPG21	ORPHA:101001
HP:0000726	Dementia	410	ARSA	ORPHA:309271
HP:0000726	Dementia	5660	PSAP	ORPHA:309271
HP:0000726	Dementia	4512	MT-CO1	OMIM:540000
HP:0000726	Dementia	4512	MT-CO1	ORPHA:550
HP:0000726	Dementia	4513	MT-CO2	OMIM:540000
HP:0000726	Dementia	4513	MT-CO2	ORPHA:550
HP:0000726	Dementia	4514	MT-CO3	OMIM:540000
HP:0000726	Dementia	4514	MT-CO3	ORPHA:550
HP:0000726	Dementia	4519	MT-CYB	OMIM:540000
HP:0000726	Dementia	4511	MT-TC	OMIM:540000
HP:0000726	Dementia	4574	MT-TS1	OMIM:540000
HP:0000726	Dementia	4574	MT-TS1	ORPHA:550
HP:0000726	Dementia	4575	MT-TS2	OMIM:540000
HP:0000726	Dementia	4575	MT-TS2	ORPHA:550
HP:0000726	Dementia	4558	MT-TF	OMIM:540000
HP:0000726	Dementia	4558	MT-TF	ORPHA:550
HP:0000726	Dementia	4541	MT-ND6	OMIM:540000
HP:0000726	Dementia	4541	MT-ND6	ORPHA:550
HP:0000726	Dementia	4567	MT-TL1	OMIM:540000
HP:0000726	Dementia	4567	MT-TL1	ORPHA:550
HP:0000726	Dementia	4540	MT-ND5	OMIM:540000
HP:0000726	Dementia	4540	MT-ND5	ORPHA:550
HP:0000726	Dementia	4566	MT-TK	OMIM:540000
HP:0000726	Dementia	4535	MT-ND1	OMIM:540000
HP:0000726	Dementia	4535	MT-ND1	ORPHA:550
HP:0000726	Dementia	4572	MT-TQ	OMIM:540000
HP:0000726	Dementia	4572	MT-TQ	ORPHA:550
HP:0000726	Dementia	4577	MT-TV	OMIM:540000
HP:0000726	Dementia	4578	MT-TW	OMIM:540000
HP:0000726	Dementia	4578	MT-TW	ORPHA:550
HP:0000726	Dementia	348	APOE	OMIM:607822
HP:0000726	Dementia	348	APOE	OMIM:606889
HP:0000726	Dementia	348	APOE	OMIM:104310
HP:0000726	Dementia	51360	MBTPS2	ORPHA:2273
HP:0000726	Dementia	3064	HTT	ORPHA:248111
HP:0000726	Dementia	3064	HTT	OMIM:143100
HP:0000726	Dementia	1716	DGUOK	ORPHA:329314
HP:0000726	Dementia	1716	DGUOK	OMIM:617070
HP:0000726	Dementia	2332	FMR1	ORPHA:93256
HP:0000726	Dementia	2332	FMR1	OMIM:300623
HP:0000726	Dementia	7276	TTR	OMIM:105210
HP:0000726	Dementia	4508	MT-ATP6	OMIM:551500
HP:0000726	Dementia	4508	MT-ATP6	ORPHA:644
HP:0000726	Dementia	1130	LYST	ORPHA:167
HP:0000726	Dementia	23400	ATP13A2	ORPHA:513436
HP:0000726	Dementia	23400	ATP13A2	ORPHA:306674
HP:0000726	Dementia	23400	ATP13A2	OMIM:617225
HP:0000726	Dementia	23400	ATP13A2	OMIM:606693
HP:0000726	Dementia	215	ABCD1	OMIM:300100
HP:0000726	Dementia	10715	CERS1	OMIM:616230
HP:0000726	Dementia	9445	ITM2B	OMIM:117300
HP:0000726	Dementia	9445	ITM2B	OMIM:176500
HP:0000726	Dementia	10908	PNPLA6	ORPHA:1173
HP:0000726	Dementia	83636	C19orf12	OMIM:614298
HP:0000726	Dementia	80208	SPG11	ORPHA:2822
HP:0000726	Dementia	1201	CLN3	OMIM:204200
HP:0000726	Dementia	1201	CLN3	ORPHA:228346
HP:0000726	Dementia	54840	APTX	OMIM:208920
HP:0000726	Dementia	57338	JPH3	ORPHA:98934
HP:0000726	Dementia	57338	JPH3	OMIM:606438
HP:0000726	Dementia	4854	NOTCH3	OMIM:125310
HP:0000726	Dementia	4854	NOTCH3	ORPHA:136
HP:0000726	Dementia	2629	GBA1	OMIM:231000
HP:0000726	Dementia	2629	GBA1	ORPHA:77261
HP:0000726	Dementia	2629	GBA1	ORPHA:411602
HP:0000726	Dementia	2629	GBA1	OMIM:127750
HP:0000726	Dementia	2629	GBA1	OMIM:168600
HP:0000726	Dementia	1471	CST3	OMIM:105150
HP:0000726	Dementia	5654	HTRA1	ORPHA:199354
HP:0000726	Dementia	5654	HTRA1	OMIM:600142
HP:0000726	Dementia	5654	HTRA1	OMIM:616779
HP:0000726	Dementia	11277	TREX1	OMIM:192315
HP:0000726	Dementia	493856	CISD2	ORPHA:3463
HP:0000726	Dementia	7466	WFS1	ORPHA:3463
HP:0000726	Dementia	7466	WFS1	ORPHA:411590
HP:0000726	Dementia	80025	PANK2	OMIM:234200
HP:0000726	Dementia	80025	PANK2	OMIM:607236
HP:0000726	Dementia	1822	ATN1	ORPHA:101
HP:0000726	Dementia	1822	ATN1	OMIM:125370
HP:0000726	Dementia	4311	MME	ORPHA:497764
HP:0000726	Dementia	4311	MME	OMIM:617017
HP:0000726	Dementia	540	ATP7B	OMIM:277900
HP:0000726	Dementia	11152	WDR45	OMIM:300894
HP:0000726	Dementia	11152	WDR45	ORPHA:329284
HP:0000726	Dementia	1282	COL4A1	OMIM:618564
HP:0000726	Dementia	6389	SDHA	ORPHA:3208
HP:0000726	Dementia	6390	SDHB	ORPHA:3208
HP:0000726	Dementia	6392	SDHD	ORPHA:3208
HP:0000726	Dementia	644096	SDHAF1	ORPHA:3208
HP:0000726	Dementia	5664	PSEN2	ORPHA:1020
HP:0000726	Dementia	5664	PSEN2	OMIM:613697
HP:0000726	Dementia	5664	PSEN2	OMIM:606889
HP:0000726	Dementia	10452	TOMM40	ORPHA:1020
HP:0000726	Dementia	351	APP	ORPHA:1020
HP:0000726	Dementia	351	APP	OMIM:605714
HP:0000726	Dementia	351	APP	OMIM:104300
HP:0000726	Dementia	351	APP	ORPHA:324713
HP:0000726	Dementia	351	APP	ORPHA:324703
HP:0000726	Dementia	351	APP	ORPHA:324708
HP:0000726	Dementia	351	APP	ORPHA:100006
HP:0000726	Dementia	10347	ABCA7	ORPHA:1020
HP:0000726	Dementia	6653	SORL1	ORPHA:1020
HP:0000726	Dementia	6683	SPAST	OMIM:182601
HP:0000726	Dementia	57704	GBA2	OMIM:614409
HP:0000726	Dementia	57704	GBA2	ORPHA:320391
HP:0000726	Dementia	2055	CLN8	ORPHA:1947
HP:0000726	Dementia	284111	SLC13A5	ORPHA:1946
HP:0000726	Dementia	79641	ROGDI	ORPHA:1946
HP:0000726	Dementia	79641	ROGDI	OMIM:226750
HP:0000726	Dementia	5832	ALDH18A1	ORPHA:447757
HP:0000726	Dementia	5832	ALDH18A1	ORPHA:447753
HP:0000726	Dementia	4556	MT-TE	ORPHA:2596
HP:0000726	Dementia	84188	FAR1	ORPHA:447753
HP:0000726	Dementia	56652	TWNK	OMIM:607459
HP:0000726	Dementia	56652	TWNK	OMIM:609286
HP:0000726	Dementia	80331	DNAJC5	OMIM:162350
HP:0000726	Dementia	25793	FBXO7	ORPHA:171695
HP:0000726	Dementia	16	AARS1	OMIM:619661
HP:0000726	Dementia	51142	CHCHD2	OMIM:616710
HP:0000726	Dementia	4001	LMNB1	ORPHA:99027
HP:0000726	Dementia	2639	GCDH	ORPHA:25
HP:0000726	Dementia	4538	MT-ND4	ORPHA:550
HP:0000726	Dementia	4564	MT-TH	ORPHA:550
HP:0000726	Dementia	7080	NKX2-1	OMIM:118700
HP:0000726	Dementia	1356	CP	OMIM:604290
HP:0000726	Dementia	2066	ERBB4	OMIM:615515
HP:0000726	Dementia	4353	MPO	OMIM:104300
HP:0000726	Dementia	4846	NOS3	OMIM:104300
HP:0000726	Dementia	3077	HFE	OMIM:104300
HP:0000726	Dementia	5328	PLAU	OMIM:104300
HP:0000726	Dementia	144165	PRICKLE1	ORPHA:308
HP:0000726	Dementia	950	SCARB2	ORPHA:308
HP:0000726	Dementia	25814	ATXN10	OMIM:603516
HP:0000726	Dementia	57505	AARS2	OMIM:615889
HP:0000726	Dementia	54822	TRPM7	OMIM:105500
HP:0000726	Dementia	427	ASAH1	OMIM:159950
HP:0000726	Dementia	10059	DNM1L	ORPHA:98673
HP:0000726	Dementia	4976	OPA1	ORPHA:98673
HP:0000726	Dementia	4694	NDUFA1	OMIM:301020
HP:0000726	Dementia	84196	USP48	ORPHA:96253
HP:0000726	Dementia	7157	TP53	ORPHA:96253
HP:0000726	Dementia	9101	USP8	ORPHA:96253
HP:0000726	Dementia	64072	CDH23	ORPHA:96253
HP:0000726	Dementia	2908	NR3C1	ORPHA:96253
HP:0000726	Dementia	673	BRAF	ORPHA:96253
HP:0000726	Dementia	546	ATRX	ORPHA:96253
HP:0000726	Dementia	2072	ERCC4	OMIM:278760
HP:0000726	Dementia	23317	DNAJC13	ORPHA:411602
HP:0000726	Dementia	1981	EIF4G1	ORPHA:411602
HP:0000726	Dementia	55737	VPS35	ORPHA:411602
HP:0000726	Dementia	26058	GIGYF2	ORPHA:411602
HP:0000726	Dementia	311	ANXA11	OMIM:617839
HP:0000726	Dementia	116442	RAB39B	OMIM:311510
HP:0000726	Dementia	1737	DLAT	ORPHA:79244
HP:0000726	Dementia	549	AUH	OMIM:250950
HP:0000726	Dementia	4864	NPC1	OMIM:257220
HP:0000726	Dementia	3119	HLA-DQB1	OMIM:123400
HP:0000726	Dementia	2632	GBE1	ORPHA:206583
HP:0000726	Dementia	56978	PRDM8	OMIM:616640
HP:0000726	Dementia	10382	TUBB4A	ORPHA:98805
HP:0000726	Dementia	378884	NHLRC1	ORPHA:501
HP:0000726	Dementia	378884	NHLRC1	OMIM:254780
HP:0000726	Dementia	7957	EPM2A	ORPHA:501
HP:0000726	Dementia	7957	EPM2A	OMIM:254780
HP:0000726	Dementia	56910	STARD7	OMIM:607876
HP:0000726	Dementia	23230	VPS13A	OMIM:200150
HP:0000726	Dementia	9213	XPR1	OMIM:616413
HP:0000726	Dementia	219285	SAMD9L	OMIM:619806
HP:0000726	Dementia	1786	DNMT1	OMIM:614116
HP:0000726	Dementia	1786	DNMT1	OMIM:604121
HP:0000726	Dementia	6620	SNCB	OMIM:127750
HP:0000726	Dementia	10846	PDE10A	ORPHA:494541
HP:0000726	Dementia	10577	NPC2	OMIM:607625
HP:0000726	Dementia	23545	ATP6V0A2	ORPHA:357074
HP:0000726	Dementia	523	ATP6V1A	ORPHA:357074
HP:0000726	Dementia	529	ATP6V1E1	ORPHA:357074
HP:0000726	Dementia	25974	MMACHC	ORPHA:79282
HP:0000726	Dementia	25974	MMACHC	OMIM:277400
HP:0000726	Dementia	1678	TIMM8A	ORPHA:52368
HP:0000726	Dementia	126129	CPT1C	ORPHA:444099
HP:0000726	Dementia	80217	CFAP43	OMIM:236690
HP:0000726	Dementia	2747	GLUD2	OMIM:168600
HP:0000726	Dementia	126	ADH1C	OMIM:168600
HP:0000726	Dementia	4929	NR4A2	OMIM:168600
HP:0000726	Dementia	4576	MT-TT	OMIM:168600
HP:0000726	Dementia	9627	SNCAIP	OMIM:168600
HP:0000726	Dementia	6315	ATXN8OS	OMIM:168600
HP:0000726	Dementia	5052	PRDX1	OMIM:277400
HP:0000726	Dementia	2760	GM2A	OMIM:272750
HP:0000726	Dementia	1436	CSF1R	OMIM:221820
HP:0000726	Dementia	2512	FTL	ORPHA:157846
HP:0000726	Dementia	54832	VPS13C	ORPHA:2828
HP:0000726	Dementia	11315	PARK7	ORPHA:2828
HP:0000726	Dementia	7345	UCHL1	ORPHA:2828
HP:0000726	Dementia	27429	HTRA2	ORPHA:2828
HP:0000726	Dementia	120892	LRRK2	ORPHA:2828
HP:0000726	Dementia	9829	DNAJC6	ORPHA:2828
HP:0000726	Dementia	6622	SNCA	ORPHA:2828
HP:0000726	Dementia	5420	PODXL	ORPHA:2828
HP:0000726	Dementia	65018	PINK1	ORPHA:2828
HP:0000726	Dementia	8867	SYNJ1	ORPHA:2828
HP:0000726	Dementia	5071	PRKN	ORPHA:2828
HP:0000726	Dementia	7305	TYROBP	ORPHA:2770
HP:0000726	Dementia	7305	TYROBP	OMIM:221770
HP:0000726	Dementia	6908	TBP	OMIM:607136
HP:0000726	Dementia	4137	MAPT	OMIM:600274
HP:0000726	Dementia	4137	MAPT	OMIM:172700
HP:0000726	Dementia	4137	MAPT	ORPHA:275864
HP:0000726	Dementia	4137	MAPT	ORPHA:100070
HP:0000726	Dementia	5663	PSEN1	OMIM:600274
HP:0000726	Dementia	5663	PSEN1	OMIM:172700
HP:0000726	Dementia	5663	PSEN1	ORPHA:275864
HP:0000726	Dementia	5663	PSEN1	ORPHA:100070
HP:0000726	Dementia	8398	PLA2G6	ORPHA:199351
HP:0000726	Dementia	8398	PLA2G6	OMIM:612953
HP:0000726	Dementia	25978	CHMP2B	OMIM:600795
HP:0000726	Dementia	25978	CHMP2B	ORPHA:275864
HP:0000726	Dementia	25978	CHMP2B	ORPHA:100070
HP:0000726	Dementia	29978	UBQLN2	OMIM:300857
HP:0000726	Dementia	1540	CYLD	OMIM:619132
HP:0000726	Dementia	7072	TIA1	OMIM:619133
HP:0000726	Dementia	23435	TARDBP	OMIM:612069
HP:0000726	Dementia	23435	TARDBP	ORPHA:275872
HP:0000726	Dementia	400916	CHCHD10	OMIM:615911
HP:0000726	Dementia	400916	CHCHD10	ORPHA:275872
HP:0000726	Dementia	7277	TUBA4A	OMIM:616208
HP:0000726	Dementia	7415	VCP	OMIM:167320
HP:0000726	Dementia	7415	VCP	ORPHA:275872
HP:0000726	Dementia	7415	VCP	ORPHA:275864
HP:0000726	Dementia	7415	VCP	ORPHA:52430
HP:0000726	Dementia	7415	VCP	ORPHA:100070
HP:0000726	Dementia	2521	FUS	ORPHA:275872
HP:0000726	Dementia	8878	SQSTM1	ORPHA:275872
HP:0000726	Dementia	8878	SQSTM1	ORPHA:275864
HP:0000726	Dementia	8878	SQSTM1	OMIM:616437
HP:0000726	Dementia	29110	TBK1	ORPHA:275872
HP:0000726	Dementia	29110	TBK1	OMIM:616439
HP:0000726	Dementia	203228	C9orf72	OMIM:105550
HP:0000726	Dementia	2896	GRN	OMIM:607485
HP:0000726	Dementia	2896	GRN	ORPHA:275864
HP:0000726	Dementia	2896	GRN	ORPHA:100070
HP:0000726	Dementia	899	CCNF	OMIM:619141
HP:0000726	Dementia	23503	ZFYVE26	ORPHA:100996
HP:0000726	Dementia	5575	PRKAR1B	ORPHA:412066
HP:0000726	Dementia	3181	HNRNPA2B1	OMIM:615422
HP:0000726	Dementia	3181	HNRNPA2B1	ORPHA:52430
HP:0000726	Dementia	54664	TMEM106B	ORPHA:275864
HP:0000726	Dementia	54664	TMEM106B	ORPHA:100070
HP:0000726	Dementia	54209	TREM2	ORPHA:275864
HP:0000726	Dementia	54209	TREM2	ORPHA:100070
HP:0000726	Dementia	1639	DCTN1	OMIM:168605
HP:0000726	Dementia	3178	HNRNPA1	ORPHA:52430
HP:0002275	Poor motor coordination	10157	AASS	ORPHA:2203
HP:0002275	Poor motor coordination	2639	GCDH	ORPHA:25
HP:0002275	Poor motor coordination	23230	VPS13A	ORPHA:2388
HP:0002275	Poor motor coordination	26580	BSCL2	ORPHA:363400
HP:0002275	Poor motor coordination	25942	SIN3A	OMIM:613406
HP:0002275	Poor motor coordination	658	BMPR1B	OMIM:616849
HP:0002275	Poor motor coordination	540	ATP7B	OMIM:277900
HP:0002275	Poor motor coordination	23203	PMPCA	ORPHA:1170
HP:0002275	Poor motor coordination	3064	HTT	ORPHA:399
HP:0002275	Poor motor coordination	6515	SLC2A3	ORPHA:399
HP:0002275	Poor motor coordination	388015	RTL1	ORPHA:254531
HP:0002275	Poor motor coordination	388015	RTL1	ORPHA:96184
HP:0002275	Poor motor coordination	388015	RTL1	ORPHA:254525
HP:0002275	Poor motor coordination	8788	DLK1	ORPHA:254531
HP:0002275	Poor motor coordination	8788	DLK1	ORPHA:96184
HP:0002275	Poor motor coordination	8788	DLK1	ORPHA:254525
HP:0002275	Poor motor coordination	55384	MEG3	ORPHA:254531
HP:0002275	Poor motor coordination	55384	MEG3	ORPHA:96184
HP:0002275	Poor motor coordination	55384	MEG3	ORPHA:254525
HP:0002275	Poor motor coordination	7840	ALMS1	ORPHA:64
HP:0002275	Poor motor coordination	5888	RAD51	ORPHA:238722
HP:0002275	Poor motor coordination	10126	DNAL4	ORPHA:238722
HP:0002275	Poor motor coordination	9423	NTN1	ORPHA:238722
HP:0002275	Poor motor coordination	1630	DCC	ORPHA:238722
HP:0002275	Poor motor coordination	54914	FOCAD	OMIM:619991
HP:0002275	Poor motor coordination	55532	SLC30A10	ORPHA:309854
HP:0002275	Poor motor coordination	55532	SLC30A10	OMIM:613280
HP:0002275	Poor motor coordination	7415	VCP	ORPHA:435387
HP:0002275	Poor motor coordination	6335	SCN9A	ORPHA:33069
HP:0002275	Poor motor coordination	6335	SCN9A	ORPHA:36387
HP:0002275	Poor motor coordination	6326	SCN2A	ORPHA:33069
HP:0002275	Poor motor coordination	6326	SCN2A	ORPHA:36387
HP:0002275	Poor motor coordination	2554	GABRA1	ORPHA:33069
HP:0002275	Poor motor coordination	6323	SCN1A	ORPHA:33069
HP:0002275	Poor motor coordination	6323	SCN1A	ORPHA:36387
HP:0002275	Poor motor coordination	6324	SCN1B	ORPHA:33069
HP:0002275	Poor motor coordination	6324	SCN1B	ORPHA:36387
HP:0002275	Poor motor coordination	57526	PCDH19	ORPHA:33069
HP:0002275	Poor motor coordination	2566	GABRG2	ORPHA:33069
HP:0002275	Poor motor coordination	2566	GABRG2	ORPHA:36387
HP:0002275	Poor motor coordination	7681	MKRN3	OMIM:176270
HP:0002275	Poor motor coordination	3653	IPW	OMIM:176270
HP:0002275	Poor motor coordination	54551	MAGEL2	OMIM:176270
HP:0002275	Poor motor coordination	791114	PWRN1	OMIM:176270
HP:0002275	Poor motor coordination	100033413	SNORD116-1	OMIM:176270
HP:0002275	Poor motor coordination	8924	HERC2	OMIM:176270
HP:0002275	Poor motor coordination	145624	PWAR1	OMIM:176270
HP:0002275	Poor motor coordination	23742	NPAP1	OMIM:176270
HP:0002275	Poor motor coordination	338433	SNORD115-1	OMIM:176270
HP:0002275	Poor motor coordination	9839	ZEB2	ORPHA:261537
HP:0002275	Poor motor coordination	9839	ZEB2	ORPHA:261552
HP:0002275	Poor motor coordination	5521	PPP2R2B	ORPHA:98762
HP:0002275	Poor motor coordination	8050	PDHX	OMIM:245349
HP:0002275	Poor motor coordination	10681	GNB5	OMIM:617182
HP:0002275	Poor motor coordination	10681	GNB5	ORPHA:542306
HP:0002275	Poor motor coordination	5621	PRNP	ORPHA:157941
HP:0002275	Poor motor coordination	63895	PIEZO2	OMIM:617146
HP:0002275	Poor motor coordination	10743	RAI1	ORPHA:1713
HP:0002275	Poor motor coordination	10020	GNE	OMIM:269921
HP:0002275	Poor motor coordination	55157	DARS2	ORPHA:137898
HP:0002275	Poor motor coordination	93986	FOXP2	ORPHA:209908
HP:0002275	Poor motor coordination	84665	MYPN	ORPHA:171439
HP:0002275	Poor motor coordination	58	ACTA1	ORPHA:171439
HP:0002275	Poor motor coordination	7169	TPM2	ORPHA:171439
HP:0002275	Poor motor coordination	390594	KBTBD13	ORPHA:171439
HP:0002275	Poor motor coordination	4703	NEB	ORPHA:171439
HP:0002275	Poor motor coordination	10324	KLHL41	ORPHA:171439
HP:0002275	Poor motor coordination	7170	TPM3	ORPHA:171439
HP:0002275	Poor motor coordination	25974	MMACHC	ORPHA:79282
HP:0002275	Poor motor coordination	2146	EZH2	OMIM:277590
HP:0002275	Poor motor coordination	54974	THG1L	OMIM:618800
HP:0002275	Poor motor coordination	81846	SBF2	ORPHA:99956
HP:0002275	Poor motor coordination	10079	ATP9A	OMIM:620242
HP:0002275	Poor motor coordination	1760	DMPK	ORPHA:589821
HP:0002275	Poor motor coordination	2332	FMR1	OMIM:300623
HP:0002275	Poor motor coordination	7852	CXCR4	ORPHA:51636
HP:0002275	Poor motor coordination	91574	MTRFR	ORPHA:320375
HP:0002275	Poor motor coordination	1523	CUX1	OMIM:618330
HP:0002275	Poor motor coordination	51109	RDH11	ORPHA:436245
HP:0002275	Poor motor coordination	54332	GDAP1	ORPHA:99948
HP:0002275	Poor motor coordination	2395	FXN	ORPHA:95
HP:0002275	Poor motor coordination	9927	MFN2	ORPHA:99947
HP:0002275	Poor motor coordination	112755	STX1B	ORPHA:36387
HP:0002275	Poor motor coordination	2563	GABRD	ORPHA:36387
HP:0002275	Poor motor coordination	348980	HCN1	ORPHA:36387
HP:0002275	Poor motor coordination	84059	ADGRV1	ORPHA:36387
HP:0002275	Poor motor coordination	267010	RNU12	ORPHA:512260
HP:0002275	Poor motor coordination	1203	CLN5	ORPHA:228360
HP:0002275	Poor motor coordination	1641	DCX	ORPHA:2148
HP:0002275	Poor motor coordination	29925	GMPPB	ORPHA:370968
HP:0002275	Poor motor coordination	79147	FKRP	ORPHA:370968
HP:0002275	Poor motor coordination	29954	POMT2	ORPHA:370968
HP:0002275	Poor motor coordination	9215	LARGE1	ORPHA:370968
HP:0002275	Poor motor coordination	10585	POMT1	ORPHA:370968
HP:0002275	Poor motor coordination	3785	KCNQ2	ORPHA:439218
HP:0002275	Poor motor coordination	23261	CAMTA1	OMIM:614756
HP:0002311	Incoordination	6095	RORA	OMIM:618060
HP:0002311	Incoordination	8518	ELP1	OMIM:223900
HP:0002311	Incoordination	773	CACNA1A	OMIM:183086
HP:0002311	Incoordination	773	CACNA1A	ORPHA:98758
HP:0002311	Incoordination	7840	ALMS1	ORPHA:64
HP:0002311	Incoordination	2643	GCH1	OMIM:128230
HP:0002311	Incoordination	3736	KCNA1	OMIM:160120
HP:0002311	Incoordination	1938	EEF2	OMIM:609306
HP:0002311	Incoordination	1387	CREBBP	OMIM:180849
HP:0002311	Incoordination	2033	EP300	OMIM:180849
HP:0002311	Incoordination	2895	GRID2	OMIM:616204
HP:0002311	Incoordination	1859	DYRK1A	OMIM:614104
HP:0002311	Incoordination	22880	MORC2	OMIM:616688
HP:0002311	Incoordination	54902	TTC19	OMIM:615157
HP:0002311	Incoordination	6418	SET	OMIM:618106
HP:0002311	Incoordination	123263	MTFMT	OMIM:614947
HP:0002311	Incoordination	22934	RPIA	OMIM:608611
HP:0002311	Incoordination	1917	EEF1A2	OMIM:616409
HP:0002311	Incoordination	6335	SCN9A	ORPHA:33069
HP:0002311	Incoordination	6335	SCN9A	ORPHA:36387
HP:0002311	Incoordination	6326	SCN2A	ORPHA:33069
HP:0002311	Incoordination	6326	SCN2A	ORPHA:36387
HP:0002311	Incoordination	2554	GABRA1	ORPHA:33069
HP:0002311	Incoordination	6323	SCN1A	ORPHA:33069
HP:0002311	Incoordination	6323	SCN1A	ORPHA:36387
HP:0002311	Incoordination	6324	SCN1B	ORPHA:33069
HP:0002311	Incoordination	6324	SCN1B	ORPHA:36387
HP:0002311	Incoordination	57526	PCDH19	ORPHA:33069
HP:0002311	Incoordination	2566	GABRG2	ORPHA:33069
HP:0002311	Incoordination	2566	GABRG2	ORPHA:36387
HP:0002311	Incoordination	1130	LYST	ORPHA:352723
HP:0002311	Incoordination	23126	POGZ	ORPHA:468678
HP:0002311	Incoordination	6712	SPTBN2	ORPHA:98766
HP:0002311	Incoordination	6712	SPTBN2	OMIM:600224
HP:0002311	Incoordination	724066	ATXN8	OMIM:608768
HP:0002311	Incoordination	6315	ATXN8OS	OMIM:608768
HP:0002311	Incoordination	3074	HEXB	ORPHA:309162
HP:0002311	Incoordination	478	ATP1A3	OMIM:601338
HP:0002311	Incoordination	5621	PRNP	ORPHA:157941
HP:0002311	Incoordination	5621	PRNP	OMIM:603218
HP:0002311	Incoordination	25814	ATXN10	OMIM:603516
HP:0002311	Incoordination	10528	NOP56	OMIM:614153
HP:0002311	Incoordination	283489	CHAMP1	OMIM:616579
HP:0002311	Incoordination	55788	LMBRD1	OMIM:277380
HP:0002311	Incoordination	6925	TCF4	OMIM:610954
HP:0002311	Incoordination	51085	MLXIPL	OMIM:194050
HP:0002311	Incoordination	2006	ELN	OMIM:194050
HP:0002311	Incoordination	2592	GALT	ORPHA:79239
HP:0002311	Incoordination	343641	TGM6	OMIM:613908
HP:0002311	Incoordination	51324	SPG21	OMIM:248900
HP:0002311	Incoordination	6571	SLC18A2	OMIM:618049
HP:0002311	Incoordination	23203	PMPCA	OMIM:213200
HP:0002311	Incoordination	23389	MED13L	ORPHA:369891
HP:0002311	Incoordination	7080	NKX2-1	ORPHA:209905
HP:0002311	Incoordination	20	ABCA2	OMIM:618808
HP:0002311	Incoordination	128989	TANGO2	ORPHA:480864
HP:0002311	Incoordination	4524	MTHFR	OMIM:236250
HP:0002311	Incoordination	215	ABCD1	OMIM:300100
HP:0002311	Incoordination	2705	GJB1	OMIM:302800
HP:0002311	Incoordination	51109	RDH11	ORPHA:436245
HP:0002311	Incoordination	112755	STX1B	ORPHA:36387
HP:0002311	Incoordination	2563	GABRD	ORPHA:36387
HP:0002311	Incoordination	348980	HCN1	ORPHA:36387
HP:0002311	Incoordination	84059	ADGRV1	ORPHA:36387
HP:0002311	Incoordination	3119	HLA-DQB1	OMIM:126200
HP:0002311	Incoordination	5133	PDCD1	OMIM:126200
HP:0002311	Incoordination	3123	HLA-DRB1	OMIM:126200
HP:0002311	Incoordination	1203	CLN5	ORPHA:228360
HP:0002311	Incoordination	1203	CLN5	OMIM:256731
HP:0002311	Incoordination	6584	SLC22A5	ORPHA:158
HP:0002311	Incoordination	3064	HTT	ORPHA:399
HP:0002311	Incoordination	6515	SLC2A3	ORPHA:399
HP:0002311	Incoordination	5888	RAD51	ORPHA:238722
HP:0002311	Incoordination	10126	DNAL4	ORPHA:238722
HP:0002311	Incoordination	9423	NTN1	ORPHA:238722
HP:0002311	Incoordination	1630	DCC	ORPHA:238722
HP:0002311	Incoordination	7809	BSND	ORPHA:89938
HP:0002311	Incoordination	1188	CLCNKB	ORPHA:89938
HP:0002311	Incoordination	1187	CLCNKA	ORPHA:89938
HP:0002311	Incoordination	8398	PLA2G6	ORPHA:199351
HP:0002311	Incoordination	8398	PLA2G6	OMIM:612953
HP:0002311	Incoordination	410	ARSA	ORPHA:309256
HP:0002311	Incoordination	410	ARSA	ORPHA:309271
HP:0002311	Incoordination	410	ARSA	ORPHA:309263
HP:0002311	Incoordination	5660	PSAP	ORPHA:309256
HP:0002311	Incoordination	5660	PSAP	ORPHA:309271
HP:0002311	Incoordination	5660	PSAP	ORPHA:309263
HP:0002311	Incoordination	10367	MICU1	OMIM:615673
HP:0002311	Incoordination	57680	CHD8	OMIM:615032
HP:0002311	Incoordination	23516	SLC39A14	OMIM:617013
HP:0002311	Incoordination	23345	SYNE1	ORPHA:88644
HP:0002311	Incoordination	5063	PAK3	OMIM:300558
HP:0002311	Incoordination	1213	CLTC	OMIM:617854
HP:0002311	Incoordination	55280	CWF19L1	OMIM:616127
HP:0002311	Incoordination	55280	CWF19L1	ORPHA:453521
HP:0002311	Incoordination	540	ATP7B	ORPHA:905
HP:0002311	Incoordination	4929	NR4A2	OMIM:619911
HP:0002311	Incoordination	3748	KCNC3	ORPHA:98768
HP:0002311	Incoordination	4287	ATXN3	ORPHA:276244
HP:0002311	Incoordination	4287	ATXN3	ORPHA:276241
HP:0002311	Incoordination	4287	ATXN3	ORPHA:276238
HP:0002311	Incoordination	6638	SNRPN	OMIM:105830
HP:0002311	Incoordination	7337	UBE3A	OMIM:105830
HP:0002311	Incoordination	825	CAPN3	OMIM:253600
HP:0002311	Incoordination	79581	SLC52A2	OMIM:614707
HP:0002311	Incoordination	11128	POLR3A	ORPHA:447896
HP:0002311	Incoordination	4125	MAN2B1	ORPHA:309282
HP:0002311	Incoordination	4125	MAN2B1	ORPHA:309288
HP:0002311	Incoordination	2334	AFF2	ORPHA:100973
HP:0002311	Incoordination	2581	GALC	ORPHA:206443
HP:0002311	Incoordination	2581	GALC	ORPHA:206448
HP:0002311	Incoordination	23030	KDM4B	OMIM:619320
HP:0002311	Incoordination	10157	AASS	ORPHA:2203
HP:0002311	Incoordination	7274	TTPA	OMIM:277460
HP:0002311	Incoordination	859	CAV3	ORPHA:488650
HP:0002311	Incoordination	10522	DEAF1	ORPHA:468620
HP:0002311	Incoordination	56652	TWNK	OMIM:271245
HP:0002311	Incoordination	7252	TSHB	ORPHA:90674
HP:0002311	Incoordination	1200	TPP1	ORPHA:284324
HP:0002311	Incoordination	1200	TPP1	OMIM:609270
HP:0002311	Incoordination	427	ASAH1	ORPHA:2590
HP:0002311	Incoordination	79868	ALG13	ORPHA:324422
HP:0002311	Incoordination	51	ACOX1	OMIM:618960
HP:0002311	Incoordination	80025	PANK2	ORPHA:216873
HP:0002311	Incoordination	54941	RNF125	OMIM:616260
HP:0002311	Incoordination	6389	SDHA	OMIM:619259
HP:0002311	Incoordination	55157	DARS2	ORPHA:137898
HP:0002311	Incoordination	84665	MYPN	ORPHA:171439
HP:0002311	Incoordination	58	ACTA1	ORPHA:171439
HP:0002311	Incoordination	7169	TPM2	ORPHA:171439
HP:0002311	Incoordination	390594	KBTBD13	ORPHA:171439
HP:0002311	Incoordination	4703	NEB	ORPHA:171439
HP:0002311	Incoordination	10324	KLHL41	ORPHA:171439
HP:0002311	Incoordination	7170	TPM3	ORPHA:171439
HP:0002311	Incoordination	2055	CLN8	OMIM:610003
HP:0002311	Incoordination	2055	CLN8	ORPHA:1947
HP:0002311	Incoordination	4137	MAPT	ORPHA:240112
HP:0002311	Incoordination	7273	TTN	ORPHA:609
HP:0002311	Incoordination	10815	CPLX1	ORPHA:352582
HP:0002311	Incoordination	57465	TBC1D24	ORPHA:352582
HP:0002311	Incoordination	9997	SCO2	ORPHA:521411
HP:0002311	Incoordination	23732	FRRS1L	ORPHA:725
HP:0002311	Incoordination	2903	GRIN2A	ORPHA:725
HP:0002311	Incoordination	8878	SQSTM1	ORPHA:603
HP:0002311	Incoordination	7072	TIA1	ORPHA:603
HP:0002311	Incoordination	51102	MECR	OMIM:617282
HP:0002311	Incoordination	492	ATP2B3	ORPHA:314978
HP:0002311	Incoordination	113278	SLC52A3	OMIM:211530
HP:0002311	Incoordination	165918	RNF168	ORPHA:420741
HP:0002311	Incoordination	220296	HEPACAM	OMIM:613926
HP:0002311	Incoordination	5376	PMP22	ORPHA:3115
HP:0002311	Incoordination	4359	MPZ	ORPHA:3115
HP:0002311	Incoordination	10456	HAX1	OMIM:610738
HP:0002311	Incoordination	291	SLC25A4	ORPHA:254892
HP:0002311	Incoordination	5428	POLG	ORPHA:254892
HP:0002311	Incoordination	5428	POLG	OMIM:607459
HP:0002311	Incoordination	11232	POLG2	ORPHA:254892
HP:0002311	Incoordination	50484	RRM2B	ORPHA:254892
HP:0002311	Incoordination	10749	KIF1C	ORPHA:397946
HP:0002311	Incoordination	10749	KIF1C	OMIM:611302
HP:0002311	Incoordination	51062	ATL1	ORPHA:100984
HP:0002311	Incoordination	6134	RPL10	OMIM:300998
HP:0002311	Incoordination	3094	HINT1	ORPHA:324442
HP:0002311	Incoordination	79912	PYROXD1	OMIM:617258
HP:0002311	Incoordination	4747	NEFL	OMIM:607684
HP:0002311	Incoordination	10159	ATP6AP2	ORPHA:93952
HP:0002311	Incoordination	1303	COL12A1	ORPHA:75840
HP:0002311	Incoordination	1291	COL6A1	ORPHA:75840
HP:0002311	Incoordination	1292	COL6A2	ORPHA:75840
HP:0002311	Incoordination	1293	COL6A3	ORPHA:75840
HP:0002311	Incoordination	5339	PLEC	ORPHA:254361
HP:0002311	Incoordination	10397	NDRG1	OMIM:601455
HP:0002311	Incoordination	55187	VPS13D	OMIM:607317
HP:0002311	Incoordination	6576	SLC25A1	OMIM:618197
HP:0002311	Incoordination	318	NUDT2	OMIM:619844
HP:0002311	Incoordination	5189	PEX1	OMIM:214100
HP:0002311	Incoordination	79147	FKRP	OMIM:607155
HP:0002311	Incoordination	79147	FKRP	OMIM:606612
HP:0002311	Incoordination	79147	FKRP	ORPHA:34515
HP:0002311	Incoordination	79147	FKRP	ORPHA:370980
HP:0002311	Incoordination	29925	GMPPB	ORPHA:353327
HP:0002311	Incoordination	2673	GFPT1	ORPHA:353327
HP:0002311	Incoordination	1798	DPAGT1	ORPHA:353327
HP:0002311	Incoordination	85365	ALG2	ORPHA:353327
HP:0002311	Incoordination	199857	ALG14	ORPHA:353327
HP:0002311	Incoordination	199857	ALG14	OMIM:616227
HP:0002311	Incoordination	4694	NDUFA1	OMIM:301020
HP:0002311	Incoordination	116228	COX20	OMIM:619054
HP:0002311	Incoordination	267010	RNU12	OMIM:620208
HP:0002311	Incoordination	267010	RNU12	ORPHA:512260
HP:0002311	Incoordination	64856	VWA1	OMIM:619216
HP:0002311	Incoordination	54834	GDAP2	OMIM:618369
HP:0002311	Incoordination	2629	GBA1	ORPHA:411602
HP:0002311	Incoordination	23317	DNAJC13	ORPHA:411602
HP:0002311	Incoordination	1981	EIF4G1	ORPHA:411602
HP:0002311	Incoordination	55737	VPS35	ORPHA:411602
HP:0002311	Incoordination	120892	LRRK2	ORPHA:411602
HP:0002311	Incoordination	26058	GIGYF2	ORPHA:411602
HP:0002311	Incoordination	6622	SNCA	ORPHA:411602
HP:0002311	Incoordination	9570	GOSR2	OMIM:620166
HP:0002311	Incoordination	54332	GDAP1	ORPHA:101097
HP:0002311	Incoordination	54332	GDAP1	ORPHA:99948
HP:0002311	Incoordination	4361	MRE11	OMIM:604391
HP:0002311	Incoordination	4361	MRE11	ORPHA:251347
HP:0002311	Incoordination	55149	MTPAP	ORPHA:254343
HP:0002311	Incoordination	5297	PI4KA	OMIM:619621
HP:0002311	Incoordination	55703	POLR3B	OMIM:619742
HP:0002311	Incoordination	1600	DAB1	OMIM:615945
HP:0002311	Incoordination	2218	FKTN	OMIM:611588
HP:0002311	Incoordination	2218	FKTN	ORPHA:370980
HP:0002311	Incoordination	284439	SLC25A42	OMIM:618416
HP:0002311	Incoordination	729920	CRPPA	ORPHA:370980
HP:0002311	Incoordination	10585	POMT1	ORPHA:370980
HP:0002311	Incoordination	9896	FIG4	OMIM:611228
HP:0002311	Incoordination	27235	COQ2	ORPHA:98933
HP:0002311	Incoordination	27235	COQ2	ORPHA:227510
HP:0002311	Incoordination	6445	SGCG	ORPHA:353
HP:0002311	Incoordination	2911	GRM1	OMIM:617691
HP:0002311	Incoordination	56006	SMG9	OMIM:619995
HP:0002311	Incoordination	10846	PDE10A	ORPHA:494526
HP:0002311	Incoordination	10846	PDE10A	OMIM:616921
HP:0002311	Incoordination	26580	BSCL2	OMIM:619112
HP:0002311	Incoordination	7415	VCP	ORPHA:435387
HP:0002311	Incoordination	7415	VCP	ORPHA:329478
HP:0002311	Incoordination	4744	NEFH	OMIM:616924
HP:0002311	Incoordination	1778	DYNC1H1	OMIM:614228
HP:0002311	Incoordination	3032	HADHB	ORPHA:746
HP:0002311	Incoordination	3030	HADHA	ORPHA:746
HP:0002311	Incoordination	6442	SGCA	ORPHA:62
HP:0002311	Incoordination	9990	SLC12A6	OMIM:620068
HP:0002311	Incoordination	80704	SLC19A3	OMIM:607483
HP:0002311	Incoordination	6872	TAF1	ORPHA:53351
HP:0002311	Incoordination	5375	PMP2	OMIM:618279
HP:0002311	Incoordination	2273	FHL1	OMIM:300718
HP:0002311	Incoordination	79152	FA2H	ORPHA:171629
HP:0002311	Incoordination	2741	GLRA1	OMIM:149400
HP:0002311	Incoordination	10243	GPHN	OMIM:149400
HP:0002311	Incoordination	9409	PEX16	OMIM:614877
HP:0002311	Incoordination	8292	COLQ	ORPHA:98915
HP:0002311	Incoordination	3913	LAMB2	ORPHA:98915
HP:0002311	Incoordination	111	ADCY5	OMIM:619647
HP:0002311	Incoordination	11261	CHP1	OMIM:618438
HP:0002311	Incoordination	10558	SPTLC1	OMIM:162400
HP:0002311	Incoordination	4508	MT-ATP6	ORPHA:225154
HP:0002311	Incoordination	23636	NUP62	ORPHA:225154
HP:0002311	Incoordination	103	ADAR	ORPHA:225154
HP:0002311	Incoordination	84823	LMNB2	OMIM:616540
HP:0002311	Incoordination	6390	SDHB	ORPHA:3208
HP:0002311	Incoordination	6392	SDHD	ORPHA:3208
HP:0002311	Incoordination	644096	SDHAF1	ORPHA:3208
HP:0002311	Incoordination	383	ARG1	OMIM:207800
HP:0002311	Incoordination	23533	PIK3R5	OMIM:615217
HP:0002311	Incoordination	1073	CFL2	OMIM:610687
HP:0002311	Incoordination	122622	ADSS1	ORPHA:482601
HP:0002311	Incoordination	4556	MT-TE	ORPHA:2596
HP:0002311	Incoordination	57410	SCYL1	ORPHA:466794
HP:0002311	Incoordination	57410	SCYL1	OMIM:616719
HP:0002311	Incoordination	23479	ISCU	OMIM:255125
HP:0002311	Incoordination	124093	CCDC78	OMIM:614807
HP:0002311	Incoordination	9181	ARHGEF2	OMIM:617523
HP:0002311	Incoordination	2583	B4GALNT1	OMIM:609195
HP:0002311	Incoordination	79628	SH3TC2	ORPHA:99949
HP:0002311	Incoordination	8996	NOL3	OMIM:614937
HP:0002311	Incoordination	9927	MFN2	ORPHA:99947
HP:0002311	Incoordination	4976	OPA1	OMIM:210000
HP:0002311	Incoordination	65055	REEP1	OMIM:620011
HP:0002311	Incoordination	6786	STIM1	OMIM:160565
HP:0002311	Incoordination	54808	DYM	ORPHA:239
HP:0002311	Incoordination	5138	PDE2A	OMIM:619150
HP:0002311	Incoordination	3752	KCND3	ORPHA:98772
HP:0002311	Incoordination	64324	NSD1	OMIM:117550
HP:0002311	Incoordination	64324	NSD1	ORPHA:821
HP:0002311	Incoordination	55773	TBC1D23	OMIM:617695
HP:0002311	Incoordination	8831	SYNGAP1	ORPHA:544254
HP:0002311	Incoordination	123606	NIPA1	ORPHA:261183
HP:0002311	Incoordination	7283	TUBG1	ORPHA:261183
HP:0002311	Incoordination	81614	NIPA2	ORPHA:261183
HP:0002311	Incoordination	51126	NAA20	OMIM:619717
HP:0002311	Incoordination	54585	LZTFL1	OMIM:615994
HP:0002311	Incoordination	84100	ARL6	OMIM:209900
HP:0002311	Incoordination	79140	CCDC28B	OMIM:209900
HP:0002311	Incoordination	582	BBS1	OMIM:209900
HP:0002311	Incoordination	2072	ERCC4	OMIM:610965
HP:0002311	Incoordination	10079	ATP9A	OMIM:620242
HP:0002311	Incoordination	29072	SETD2	ORPHA:821
HP:0002311	Incoordination	10297	APC2	ORPHA:821
HP:0002311	Incoordination	8726	EED	OMIM:617561
HP:0002311	Incoordination	9578	CDC42BPB	OMIM:619841
HP:0002311	Incoordination	25828	TXN2	ORPHA:478029
HP:0002311	Incoordination	833	CARS1	OMIM:618891
HP:0002311	Incoordination	6942	TCF20	OMIM:618430
HP:0002311	Incoordination	6492	SIM1	ORPHA:171829
HP:0002311	Incoordination	7532	YWHAG	OMIM:617665
HP:0002311	Incoordination	4548	MTR	OMIM:250940
HP:0002311	Incoordination	10166	SLC25A15	ORPHA:415
HP:0002311	Incoordination	10166	SLC25A15	OMIM:238970
HP:0002311	Incoordination	10075	HUWE1	OMIM:309590
HP:0002311	Incoordination	3028	HSD17B10	ORPHA:391428
HP:0002311	Incoordination	6535	SLC6A8	OMIM:300352
HP:0002277	Horner syndrome	23095	KIF1B	OMIM:256700
HP:0002277	Horner syndrome	2783	GNB2	OMIM:619503
HP:0002277	Horner syndrome	84570	COL25A1	ORPHA:91411
HP:0002277	Horner syndrome	79776	ZFHX4	ORPHA:91411
HP:0002384	Focal impaired awareness seizure	6323	SCN1A	OMIM:607208
HP:0002384	Focal impaired awareness seizure	6323	SCN1A	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	6323	SCN1A	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	10059	DNM1L	ORPHA:330050
HP:0002384	Focal impaired awareness seizure	2775	GNAO1	OMIM:617493
HP:0002384	Focal impaired awareness seizure	1173	AP2M1	OMIM:618587
HP:0002384	Focal impaired awareness seizure	1183	CLCN4	OMIM:300114
HP:0002384	Focal impaired awareness seizure	1183	CLCN4	ORPHA:485350
HP:0002384	Focal impaired awareness seizure	23019	CNOT1	OMIM:618500
HP:0002384	Focal impaired awareness seizure	55823	VPS11	OMIM:616683
HP:0002384	Focal impaired awareness seizure	23135	KDM6B	OMIM:618505
HP:0002384	Focal impaired awareness seizure	2904	GRIN2B	OMIM:613970
HP:0002384	Focal impaired awareness seizure	92335	STRADA	ORPHA:500533
HP:0002384	Focal impaired awareness seizure	6328	SCN3A	OMIM:617935
HP:0002384	Focal impaired awareness seizure	6334	SCN8A	ORPHA:306
HP:0002384	Focal impaired awareness seizure	6334	SCN8A	ORPHA:31709
HP:0002384	Focal impaired awareness seizure	6334	SCN8A	OMIM:617080
HP:0002384	Focal impaired awareness seizure	6326	SCN2A	ORPHA:306
HP:0002384	Focal impaired awareness seizure	6326	SCN2A	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	6326	SCN2A	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	6326	SCN2A	OMIM:607745
HP:0002384	Focal impaired awareness seizure	112476	PRRT2	ORPHA:306
HP:0002384	Focal impaired awareness seizure	112476	PRRT2	OMIM:605751
HP:0002384	Focal impaired awareness seizure	112476	PRRT2	ORPHA:31709
HP:0002384	Focal impaired awareness seizure	3785	KCNQ2	ORPHA:306
HP:0002384	Focal impaired awareness seizure	3786	KCNQ3	ORPHA:306
HP:0002384	Focal impaired awareness seizure	8496	PPFIBP1	OMIM:620024
HP:0002384	Focal impaired awareness seizure	23126	POGZ	ORPHA:468678
HP:0002384	Focal impaired awareness seizure	23126	POGZ	OMIM:616364
HP:0002384	Focal impaired awareness seizure	64324	NSD1	ORPHA:821
HP:0002384	Focal impaired awareness seizure	29072	SETD2	ORPHA:821
HP:0002384	Focal impaired awareness seizure	10297	APC2	ORPHA:821
HP:0002384	Focal impaired awareness seizure	2258	FGF13	OMIM:301058
HP:0002384	Focal impaired awareness seizure	57165	GJC2	OMIM:608804
HP:0002384	Focal impaired awareness seizure	2593	GAMT	ORPHA:382
HP:0002384	Focal impaired awareness seizure	387119	CEP85L	OMIM:618873
HP:0002384	Focal impaired awareness seizure	112755	STX1B	OMIM:616172
HP:0002384	Focal impaired awareness seizure	112755	STX1B	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	3745	KCNB1	OMIM:616056
HP:0002384	Focal impaired awareness seizure	2782	GNB1	ORPHA:488613
HP:0002384	Focal impaired awareness seizure	2782	GNB1	OMIM:616973
HP:0002384	Focal impaired awareness seizure	478	ATP1A3	OMIM:619606
HP:0002384	Focal impaired awareness seizure	6900	CNTN2	OMIM:615400
HP:0002384	Focal impaired awareness seizure	4041	LRP5	OMIM:259770
HP:0002384	Focal impaired awareness seizure	5649	RELN	OMIM:600512
HP:0002384	Focal impaired awareness seizure	64780	MICAL1	OMIM:600512
HP:0002384	Focal impaired awareness seizure	9211	LGI1	OMIM:600512
HP:0002384	Focal impaired awareness seizure	51083	GAL	OMIM:616461
HP:0002384	Focal impaired awareness seizure	535	ATP6V0A1	OMIM:619970
HP:0002384	Focal impaired awareness seizure	816	CAMK2B	OMIM:617799
HP:0002384	Focal impaired awareness seizure	23229	ARHGEF9	ORPHA:163985
HP:0002384	Focal impaired awareness seizure	23229	ARHGEF9	OMIM:300607
HP:0002384	Focal impaired awareness seizure	116150	NUS1	OMIM:617831
HP:0002384	Focal impaired awareness seizure	1759	DNM1	OMIM:616346
HP:0002384	Focal impaired awareness seizure	3064	HTT	OMIM:617435
HP:0002384	Focal impaired awareness seizure	267010	RNU12	OMIM:620208
HP:0002384	Focal impaired awareness seizure	2770	GNAI1	OMIM:619854
HP:0002384	Focal impaired awareness seizure	2055	CLN8	OMIM:610003
HP:0002384	Focal impaired awareness seizure	2055	CLN8	ORPHA:1947
HP:0002384	Focal impaired awareness seizure	23732	FRRS1L	ORPHA:725
HP:0002384	Focal impaired awareness seizure	2903	GRIN2A	ORPHA:725
HP:0002384	Focal impaired awareness seizure	2903	GRIN2A	ORPHA:98818
HP:0002384	Focal impaired awareness seizure	2903	GRIN2A	OMIM:245570
HP:0002384	Focal impaired awareness seizure	1000	CDH2	OMIM:618929
HP:0002384	Focal impaired awareness seizure	128989	TANGO2	ORPHA:480864
HP:0002384	Focal impaired awareness seizure	8131	NPRL3	ORPHA:98820
HP:0002384	Focal impaired awareness seizure	10641	NPRL2	ORPHA:98820
HP:0002384	Focal impaired awareness seizure	9681	DEPDC5	ORPHA:98820
HP:0002384	Focal impaired awareness seizure	2898	GRIK2	OMIM:619580
HP:0002384	Focal impaired awareness seizure	56776	FMN2	OMIM:616193
HP:0002384	Focal impaired awareness seizure	283987	HID1	OMIM:619983
HP:0002384	Focal impaired awareness seizure	776	CACNA1D	ORPHA:369929
HP:0002384	Focal impaired awareness seizure	56479	KCNQ5	OMIM:617601
HP:0002384	Focal impaired awareness seizure	23152	CIC	OMIM:617600
HP:0002384	Focal impaired awareness seizure	2783	GNB2	OMIM:619503
HP:0002384	Focal impaired awareness seizure	9419	CRIPT	OMIM:615789
HP:0002384	Focal impaired awareness seizure	6335	SCN9A	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	6335	SCN9A	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	2563	GABRD	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	6324	SCN1B	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	6324	SCN1B	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	348980	HCN1	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	84059	ADGRV1	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	2566	GABRG2	ORPHA:36387
HP:0002384	Focal impaired awareness seizure	2566	GABRG2	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	2566	GABRG2	OMIM:618396
HP:0002384	Focal impaired awareness seizure	2261	FGFR3	OMIM:616482
HP:0002384	Focal impaired awareness seizure	3747	KCNC2	OMIM:619913
HP:0002384	Focal impaired awareness seizure	23040	MYT1L	OMIM:616521
HP:0002384	Focal impaired awareness seizure	4983	OPHN1	ORPHA:137831
HP:0002384	Focal impaired awareness seizure	85440	DOCK7	ORPHA:411986
HP:0002384	Focal impaired awareness seizure	85440	DOCK7	OMIM:615859
HP:0002384	Focal impaired awareness seizure	2554	GABRA1	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	2554	GABRA1	OMIM:615744
HP:0002384	Focal impaired awareness seizure	57526	PCDH19	ORPHA:33069
HP:0002384	Focal impaired awareness seizure	378884	NHLRC1	ORPHA:501
HP:0002384	Focal impaired awareness seizure	7957	EPM2A	ORPHA:501
HP:0002384	Focal impaired awareness seizure	526	ATP6V1B2	ORPHA:79500
HP:0002384	Focal impaired awareness seizure	57465	TBC1D24	ORPHA:79500
HP:0002384	Focal impaired awareness seizure	11198	SUPT16H	OMIM:619480
HP:0002384	Focal impaired awareness seizure	25814	ATXN10	ORPHA:98761
HP:0002384	Focal impaired awareness seizure	5138	PDE2A	ORPHA:31709
HP:0002384	Focal impaired awareness seizure	57169	ZNFX1	OMIM:619644
HP:0002384	Focal impaired awareness seizure	9896	FIG4	OMIM:612691
HP:0002384	Focal impaired awareness seizure	9896	FIG4	ORPHA:208441
HP:0002384	Focal impaired awareness seizure	773	CACNA1A	OMIM:617106
HP:0002384	Focal impaired awareness seizure	163175	LGI4	OMIM:617468
HP:0002384	Focal impaired awareness seizure	3708	ITPR1	OMIM:117360
HP:0002384	Focal impaired awareness seizure	23031	MAST3	OMIM:620115
HP:0002384	Focal impaired awareness seizure	9568	GABBR2	OMIM:617904
HP:0002384	Focal impaired awareness seizure	2556	GABRA3	OMIM:301091
HP:0002384	Focal impaired awareness seizure	57020	VPS35L	OMIM:619135
HP:0002384	Focal impaired awareness seizure	26047	CNTNAP2	OMIM:610042
HP:0002384	Focal impaired awareness seizure	23499	MACF1	OMIM:618325
HP:0002384	Focal impaired awareness seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002384	Focal impaired awareness seizure	7248	TSC1	OMIM:607341
HP:0002384	Focal impaired awareness seizure	7249	TSC2	OMIM:607341
HP:0002384	Focal impaired awareness seizure	2475	MTOR	OMIM:607341
HP:0002384	Focal impaired awareness seizure	197322	ACSF3	ORPHA:289504
HP:0002384	Focal impaired awareness seizure	7040	TGFB1	OMIM:618213
HP:0002384	Focal impaired awareness seizure	2902	GRIN1	OMIM:614254
HP:0002384	Focal impaired awareness seizure	221927	BRAT1	OMIM:618056
HP:0002384	Focal impaired awareness seizure	81603	TRIM8	OMIM:619428
HP:0002384	Focal impaired awareness seizure	10695	CNPY3	OMIM:617929
HP:0002384	Focal impaired awareness seizure	57094	CPA6	OMIM:614417
HP:0002384	Focal impaired awareness seizure	57094	CPA6	OMIM:614418
HP:0002384	Focal impaired awareness seizure	50640	PNPLA8	OMIM:251950
HP:0002384	Focal impaired awareness seizure	8085	KMT2D	OMIM:147920
HP:0002384	Focal impaired awareness seizure	7403	KDM6A	OMIM:147920
HP:0002384	Focal impaired awareness seizure	7187	TRAF3	ORPHA:1930
HP:0002384	Focal impaired awareness seizure	81622	UNC93B1	ORPHA:1930
HP:0002384	Focal impaired awareness seizure	148022	TICAM1	ORPHA:1930
HP:0002384	Focal impaired awareness seizure	7098	TLR3	ORPHA:1930
HP:0002384	Focal impaired awareness seizure	29110	TBK1	ORPHA:1930
HP:0002384	Focal impaired awareness seizure	781	CACNA2D1	OMIM:620149
HP:0002384	Focal impaired awareness seizure	10319	LAMC3	OMIM:614115
HP:0012492	Cerebral artery stenosis	4763	NF1	ORPHA:97685
HP:0012492	Cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012493	Middle cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012494	Anterior cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012495	Posterior cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012496	Reduced maximal inspiratory pressure	9499	MYOT	ORPHA:266
HP:0012497	Reduced maximal expiratory pressure	1303	COL12A1	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1291	COL6A1	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1292	COL6A2	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1293	COL6A3	ORPHA:610
HP:0012498	Nuchal cord	10588	MTHFS	OMIM:618367
HP:0012498	Nuchal cord	6711	SPTBN1	OMIM:619475
HP:0012499	Descending aortic dissection	1281	COL3A1	OMIM:130050
HP:0012499	Descending aortic dissection	2301	FOXE3	OMIM:617349
HP:0012499	Descending aortic dissection	2301	FOXE3	ORPHA:91387
HP:0012499	Descending aortic dissection	4088	SMAD3	OMIM:613795
HP:0012499	Descending aortic dissection	4088	SMAD3	ORPHA:91387
HP:0012499	Descending aortic dissection	4629	MYH11	OMIM:132900
HP:0012499	Descending aortic dissection	4629	MYH11	ORPHA:229
HP:0012499	Descending aortic dissection	4629	MYH11	ORPHA:91387
HP:0012499	Descending aortic dissection	7048	TGFBR2	OMIM:610168
HP:0012499	Descending aortic dissection	7048	TGFBR2	ORPHA:91387
HP:0012499	Descending aortic dissection	11117	EMILIN1	OMIM:620080
HP:0012499	Descending aortic dissection	5592	PRKG1	OMIM:615436
HP:0012499	Descending aortic dissection	5592	PRKG1	ORPHA:91387
HP:0012499	Descending aortic dissection	59	ACTA2	OMIM:611788
HP:0012499	Descending aortic dissection	59	ACTA2	ORPHA:91387
HP:0012499	Descending aortic dissection	7046	TGFBR1	ORPHA:91387
HP:0012499	Descending aortic dissection	4015	LOX	ORPHA:91387
HP:0012499	Descending aortic dissection	4087	SMAD2	ORPHA:91387
HP:0012499	Descending aortic dissection	7043	TGFB3	ORPHA:91387
HP:0012499	Descending aortic dissection	7042	TGFB2	ORPHA:91387
HP:0012499	Descending aortic dissection	4089	SMAD4	ORPHA:91387
HP:0012499	Descending aortic dissection	2200	FBN1	ORPHA:91387
HP:0012499	Descending aortic dissection	4144	MAT2A	ORPHA:91387
HP:0012499	Descending aortic dissection	23493	HEY2	ORPHA:91387
HP:0012499	Descending aortic dissection	8076	MFAP5	ORPHA:91387
HP:0012499	Descending aortic dissection	4638	MYLK	ORPHA:91387
HP:0012499	Descending aortic dissection	4638	MYLK	OMIM:613780
HP:0012499	Descending aortic dissection	2006	ELN	ORPHA:91387
HP:0012490	Panniculitis	56984	PSMG2	OMIM:619183
HP:0012490	Panniculitis	114803	MYSM1	ORPHA:508542
HP:0012490	Panniculitis	355	FAS	ORPHA:3261
HP:0012490	Panniculitis	356	FASLG	ORPHA:3261
HP:0012490	Panniculitis	5580	PRKCD	ORPHA:3261
HP:0012490	Panniculitis	843	CASP10	ORPHA:3261
HP:0012490	Panniculitis	10125	RASGRP1	ORPHA:3261
HP:0012490	Panniculitis	84868	HAVCR2	OMIM:618398
HP:0012490	Panniculitis	84868	HAVCR2	ORPHA:86884
HP:0012490	Panniculitis	90268	OTULIN	OMIM:617099
HP:0012490	Panniculitis	5692	PSMB4	OMIM:617591
HP:0012490	Panniculitis	5698	PSMB9	OMIM:617591
HP:0012490	Panniculitis	51816	ADA2	OMIM:615688
HP:0012490	Panniculitis	3832	KIF11	ORPHA:2526
HP:0012490	Panniculitis	92579	G6PC3	OMIM:612541
HP:0012490	Panniculitis	3932	LCK	OMIM:615758
HP:0012490	Panniculitis	8517	IKBKG	OMIM:301081
HP:0012490	Panniculitis	5696	PSMB8	OMIM:256040
HP:0012490	Panniculitis	4210	MEFV	ORPHA:3243
HP:0012490	Panniculitis	4210	MEFV	OMIM:608068
HP:0012490	Panniculitis	10535	RNASEH2A	ORPHA:51
HP:0012490	Panniculitis	84153	RNASEH2C	ORPHA:51
HP:0012490	Panniculitis	25939	SAMHD1	ORPHA:51
HP:0012490	Panniculitis	79621	RNASEH2B	ORPHA:51
HP:0012490	Panniculitis	103	ADAR	ORPHA:51
HP:0012490	Panniculitis	11277	TREX1	ORPHA:51
HP:0012490	Panniculitis	100147744	RNU7-1	ORPHA:51
HP:0012490	Panniculitis	134353	LSM11	ORPHA:51
HP:0012490	Panniculitis	64135	IFIH1	ORPHA:51
HP:0009436	Triangular shaped middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009438	Absent middle phalanx of 3rd finger	50814	NSDHL	OMIM:308050
HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:615072
HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0002280	Enlarged cisterna magna	11340	EXOSC8	OMIM:616081
HP:0002280	Enlarged cisterna magna	3572	IL6ST	OMIM:619751
HP:0002280	Enlarged cisterna magna	65250	CPLANE1	OMIM:277170
HP:0002280	Enlarged cisterna magna	348180	CTU2	OMIM:618142
HP:0002280	Enlarged cisterna magna	23241	PACS2	OMIM:618067
HP:0002280	Enlarged cisterna magna	22931	RAB18	OMIM:614222
HP:0002280	Enlarged cisterna magna	2972	BRF1	OMIM:616202
HP:0002280	Enlarged cisterna magna	2972	BRF1	ORPHA:444072
HP:0002280	Enlarged cisterna magna	4983	OPHN1	ORPHA:137831
HP:0002280	Enlarged cisterna magna	4983	OPHN1	OMIM:300486
HP:0002280	Enlarged cisterna magna	23126	POGZ	ORPHA:468678
HP:0002280	Enlarged cisterna magna	64324	NSD1	ORPHA:821
HP:0002280	Enlarged cisterna magna	64324	NSD1	OMIM:117550
HP:0002280	Enlarged cisterna magna	29072	SETD2	ORPHA:821
HP:0002280	Enlarged cisterna magna	10297	APC2	ORPHA:821
HP:0002280	Enlarged cisterna magna	79848	CSPP1	ORPHA:397715
HP:0002280	Enlarged cisterna magna	9786	KIAA0586	ORPHA:397715
HP:0002280	Enlarged cisterna magna	9786	KIAA0586	OMIM:616546
HP:0002280	Enlarged cisterna magna	51611	DPH5	OMIM:620070
HP:0002280	Enlarged cisterna magna	128869	PIGU	OMIM:618590
HP:0002280	Enlarged cisterna magna	84197	POMK	OMIM:616094
HP:0002280	Enlarged cisterna magna	285590	SH3PXD2B	OMIM:249420
HP:0002280	Enlarged cisterna magna	1436	CSF1R	OMIM:618476
HP:0002280	Enlarged cisterna magna	10300	KATNB1	OMIM:616212
HP:0002280	Enlarged cisterna magna	2317	FLNB	ORPHA:1190
HP:0002280	Enlarged cisterna magna	4849	CNOT3	OMIM:618672
HP:0002280	Enlarged cisterna magna	7443	VRK1	OMIM:607596
HP:0002280	Enlarged cisterna magna	10978	CLP1	OMIM:615803
HP:0002280	Enlarged cisterna magna	9382	COG1	ORPHA:263508
HP:0002280	Enlarged cisterna magna	5373	PMM2	ORPHA:79318
HP:0002280	Enlarged cisterna magna	5373	PMM2	OMIM:212065
HP:0002280	Enlarged cisterna magna	80267	EDEM3	OMIM:619493
HP:0002280	Enlarged cisterna magna	4718	NDUFC2	OMIM:619170
HP:0002280	Enlarged cisterna magna	23007	PLCH1	OMIM:619895
HP:0002280	Enlarged cisterna magna	7355	SLC35A2	OMIM:300896
HP:0002280	Enlarged cisterna magna	5879	RAC1	OMIM:617751
HP:0002280	Enlarged cisterna magna	5879	RAC1	ORPHA:500159
HP:0002280	Enlarged cisterna magna	4125	MAN2B1	OMIM:248500
HP:0002280	Enlarged cisterna magna	3899	AFF3	OMIM:619297
HP:0002280	Enlarged cisterna magna	10585	POMT1	OMIM:613155
HP:0002280	Enlarged cisterna magna	738	VPS51	OMIM:618606
HP:0002280	Enlarged cisterna magna	8481	OFD1	OMIM:300804
HP:0002280	Enlarged cisterna magna	267010	RNU12	OMIM:620208
HP:0002280	Enlarged cisterna magna	8815	BANF1	OMIM:614008
HP:0002280	Enlarged cisterna magna	23219	FBXO28	OMIM:619777
HP:0002280	Enlarged cisterna magna	51684	SUFU	OMIM:617757
HP:0002280	Enlarged cisterna magna	284086	NEK8	OMIM:615415
HP:0002280	Enlarged cisterna magna	5430	POLR2A	OMIM:618603
HP:0002280	Enlarged cisterna magna	1000	CDH2	OMIM:618929
HP:0002280	Enlarged cisterna magna	501	ALDH7A1	ORPHA:3006
HP:0002280	Enlarged cisterna magna	11212	PLPBP	ORPHA:3006
HP:0002280	Enlarged cisterna magna	84188	FAR1	ORPHA:447753
HP:0002280	Enlarged cisterna magna	5832	ALDH18A1	ORPHA:447753
HP:0002280	Enlarged cisterna magna	37	ACADVL	ORPHA:26793
HP:0002280	Enlarged cisterna magna	2296	FOXC1	OMIM:601631
HP:0002280	Enlarged cisterna magna	25970	SH2B1	ORPHA:261197
HP:0002280	Enlarged cisterna magna	5307	PITX1	OMIM:119800
HP:0002280	Enlarged cisterna magna	8884	SLC5A6	OMIM:618973
HP:0002280	Enlarged cisterna magna	23203	PMPCA	ORPHA:1170
HP:0002280	Enlarged cisterna magna	51300	TIMMDC1	OMIM:618251
HP:0002280	Enlarged cisterna magna	57716	PRX	OMIM:614895
HP:0002280	Enlarged cisterna magna	8550	MAPKAPK5	OMIM:619869
HP:0002282	Gray matter heterotopia	2261	FGFR3	OMIM:187600
HP:0002282	Gray matter heterotopia	2261	FGFR3	ORPHA:1860
HP:0002282	Gray matter heterotopia	29899	GPSM2	OMIM:604213
HP:0002282	Gray matter heterotopia	23013	SPEN	OMIM:619312
HP:0002282	Gray matter heterotopia	100151683	RNU4ATAC	OMIM:210710
HP:0002282	Gray matter heterotopia	29957	SLC25A24	OMIM:612289
HP:0002282	Gray matter heterotopia	4659	PPP1R12A	OMIM:618820
HP:0002282	Gray matter heterotopia	8496	PPFIBP1	OMIM:620024
HP:0002282	Gray matter heterotopia	5728	PTEN	ORPHA:744
HP:0002282	Gray matter heterotopia	207	AKT1	ORPHA:744
HP:0002282	Gray matter heterotopia	3190	HNRNPK	ORPHA:453504
HP:0002282	Gray matter heterotopia	3190	HNRNPK	ORPHA:352665
HP:0002282	Gray matter heterotopia	29925	GMPPB	ORPHA:370959
HP:0002282	Gray matter heterotopia	79147	FKRP	ORPHA:370959
HP:0002282	Gray matter heterotopia	79147	FKRP	ORPHA:370980
HP:0002282	Gray matter heterotopia	29954	POMT2	ORPHA:370959
HP:0002282	Gray matter heterotopia	84197	POMK	ORPHA:370959
HP:0002282	Gray matter heterotopia	55624	POMGNT1	ORPHA:370959
HP:0002282	Gray matter heterotopia	10585	POMT1	ORPHA:370959
HP:0002282	Gray matter heterotopia	10585	POMT1	ORPHA:370980
HP:0002282	Gray matter heterotopia	2316	FLNA	OMIM:300049
HP:0002282	Gray matter heterotopia	440138	ALG11	ORPHA:280071
HP:0002282	Gray matter heterotopia	253959	RALGAPA1	OMIM:618797
HP:0002282	Gray matter heterotopia	11041	B4GAT1	OMIM:615287
HP:0002282	Gray matter heterotopia	84162	BLTP1	OMIM:617822
HP:0002282	Gray matter heterotopia	80210	ARMC9	OMIM:617622
HP:0002282	Gray matter heterotopia	284217	LAMA1	OMIM:615960
HP:0002282	Gray matter heterotopia	8481	OFD1	OMIM:311200
HP:0002282	Gray matter heterotopia	9968	MED12	OMIM:305450
HP:0002282	Gray matter heterotopia	5290	PIK3CA	ORPHA:99802
HP:0002282	Gray matter heterotopia	2475	MTOR	ORPHA:99802
HP:0002282	Gray matter heterotopia	10000	AKT3	ORPHA:99802
HP:0002282	Gray matter heterotopia	55780	ERMARD	ORPHA:75857
HP:0002282	Gray matter heterotopia	7846	TUBA1A	OMIM:611603
HP:0002282	Gray matter heterotopia	57688	ZSWIM6	OMIM:603671
HP:0002282	Gray matter heterotopia	5189	PEX1	OMIM:214100
HP:0002282	Gray matter heterotopia	4131	MAP1B	OMIM:618918
HP:0002282	Gray matter heterotopia	284403	WDR62	OMIM:604317
HP:0002282	Gray matter heterotopia	284403	WDR62	ORPHA:2512
HP:0002282	Gray matter heterotopia	57724	EPG5	OMIM:242840
HP:0002282	Gray matter heterotopia	57724	EPG5	ORPHA:1493
HP:0002282	Gray matter heterotopia	23007	PLCH1	OMIM:619895
HP:0002282	Gray matter heterotopia	4123	MAN2C1	OMIM:619775
HP:0002282	Gray matter heterotopia	347733	TUBB2B	ORPHA:300573
HP:0002282	Gray matter heterotopia	92255	LMBRD2	OMIM:619694
HP:0002282	Gray matter heterotopia	11274	USP18	OMIM:617397
HP:0002282	Gray matter heterotopia	729920	CRPPA	OMIM:614643
HP:0002282	Gray matter heterotopia	729920	CRPPA	ORPHA:370980
HP:0002282	Gray matter heterotopia	2678	GGT1	OMIM:231950
HP:0002282	Gray matter heterotopia	8777	MPDZ	OMIM:615219
HP:0002282	Gray matter heterotopia	284058	KANSL1	OMIM:610443
HP:0002282	Gray matter heterotopia	5195	PEX14	OMIM:614887
HP:0002282	Gray matter heterotopia	219844	HYLS1	OMIM:236680
HP:0002282	Gray matter heterotopia	4292	MLH1	OMIM:276300
HP:0002282	Gray matter heterotopia	9276	COPB2	ORPHA:2512
HP:0002282	Gray matter heterotopia	11113	CIT	ORPHA:2512
HP:0002282	Gray matter heterotopia	9928	KIF14	ORPHA:2512
HP:0002282	Gray matter heterotopia	22995	CEP152	ORPHA:2512
HP:0002282	Gray matter heterotopia	55262	TRAPPC14	ORPHA:2512
HP:0002282	Gray matter heterotopia	163786	SASS6	ORPHA:2512
HP:0002282	Gray matter heterotopia	29920	PYCR2	ORPHA:2512
HP:0002282	Gray matter heterotopia	84879	MFSD2A	ORPHA:2512
HP:0002282	Gray matter heterotopia	4176	MCM7	ORPHA:2512
HP:0002282	Gray matter heterotopia	80254	CEP63	ORPHA:2512
HP:0002282	Gray matter heterotopia	29081	METTL5	ORPHA:2512
HP:0002282	Gray matter heterotopia	23310	NCAPD3	ORPHA:2512
HP:0002282	Gray matter heterotopia	55755	CDK5RAP2	ORPHA:2512
HP:0002282	Gray matter heterotopia	79648	MCPH1	ORPHA:2512
HP:0002282	Gray matter heterotopia	6491	STIL	ORPHA:2512
HP:0002282	Gray matter heterotopia	23141	ANKLE2	ORPHA:2512
HP:0002282	Gray matter heterotopia	259266	ASPM	ORPHA:2512
HP:0002282	Gray matter heterotopia	7109	TRAPPC10	ORPHA:2512
HP:0002282	Gray matter heterotopia	1911	PHC1	ORPHA:2512
HP:0002282	Gray matter heterotopia	6884	TAF13	ORPHA:2512
HP:0002282	Gray matter heterotopia	9662	CEP135	ORPHA:2512
HP:0002282	Gray matter heterotopia	55835	CENPJ	ORPHA:2512
HP:0002282	Gray matter heterotopia	57082	KNL1	ORPHA:2512
HP:0002282	Gray matter heterotopia	1021	CDK6	ORPHA:2512
HP:0002282	Gray matter heterotopia	286204	CRB2	OMIM:219730
HP:0002282	Gray matter heterotopia	1641	DCX	OMIM:300067
HP:0002282	Gray matter heterotopia	171023	ASXL1	OMIM:605039
HP:0002282	Gray matter heterotopia	23327	NEDD4L	OMIM:617201
HP:0002282	Gray matter heterotopia	84314	TMEM107	OMIM:617563
HP:0002282	Gray matter heterotopia	5395	PMS2	OMIM:619101
HP:0002282	Gray matter heterotopia	120	ADD3	OMIM:617008
HP:0002282	Gray matter heterotopia	2218	FKTN	ORPHA:370980
HP:0002282	Gray matter heterotopia	160418	TMTC3	ORPHA:98892
HP:0002282	Gray matter heterotopia	11253	MAN1B1	ORPHA:397941
HP:0002282	Gray matter heterotopia	26005	C2CD3	ORPHA:434179
HP:0002282	Gray matter heterotopia	26005	C2CD3	OMIM:615948
HP:0002282	Gray matter heterotopia	23522	KAT6B	OMIM:606170
HP:0002282	Gray matter heterotopia	4897	NRCAM	OMIM:619833
HP:0002282	Gray matter heterotopia	4329	ALDH6A1	OMIM:614105
HP:0002282	Gray matter heterotopia	25914	RTTN	ORPHA:468631
HP:0002282	Gray matter heterotopia	1000	CDH2	OMIM:618929
HP:0002282	Gray matter heterotopia	9839	ZEB2	ORPHA:261537
HP:0002282	Gray matter heterotopia	9839	ZEB2	ORPHA:261552
HP:0002282	Gray matter heterotopia	1717	DHCR7	OMIM:270400
HP:0002282	Gray matter heterotopia	10733	PLK4	OMIM:616171
HP:0002282	Gray matter heterotopia	5162	PDHB	ORPHA:255138
HP:0002282	Gray matter heterotopia	1436	CSF1R	OMIM:618476
HP:0002282	Gray matter heterotopia	10300	KATNB1	OMIM:616212
HP:0002282	Gray matter heterotopia	22983	MAST1	OMIM:618273
HP:0002282	Gray matter heterotopia	29123	ANKRD11	ORPHA:261250
HP:0002282	Gray matter heterotopia	55790	CSGALNACT1	OMIM:618870
HP:0002282	Gray matter heterotopia	2332	FMR1	OMIM:300624
HP:0002282	Gray matter heterotopia	84148	KAT8	OMIM:618974
HP:0002282	Gray matter heterotopia	8449	DHX16	OMIM:618733
HP:0002282	Gray matter heterotopia	57020	VPS35L	OMIM:619135
HP:0002282	Gray matter heterotopia	65250	CPLANE1	OMIM:277170
HP:0002282	Gray matter heterotopia	375	ARF1	OMIM:618185
HP:0002282	Gray matter heterotopia	23036	ZNF292	OMIM:619188
HP:0002282	Gray matter heterotopia	55656	INTS8	OMIM:618572
HP:0002282	Gray matter heterotopia	57178	ZMIZ1	OMIM:618659
HP:0002282	Gray matter heterotopia	9692	PRORP	OMIM:619737
HP:0002282	Gray matter heterotopia	10564	ARFGEF2	OMIM:608097
HP:0002282	Gray matter heterotopia	10815	CPLX1	ORPHA:352582
HP:0002282	Gray matter heterotopia	57465	TBC1D24	ORPHA:352582
HP:0002282	Gray matter heterotopia	22859	ADGRL1	OMIM:620065
HP:0002282	Gray matter heterotopia	10297	APC2	OMIM:618677
HP:0002282	Gray matter heterotopia	1284	COL4A2	OMIM:614483
HP:0002282	Gray matter heterotopia	7283	TUBG1	OMIM:615412
HP:0002282	Gray matter heterotopia	10844	TUBGCP2	OMIM:618737
HP:0002282	Gray matter heterotopia	3796	KIF2A	OMIM:615411
HP:0002282	Gray matter heterotopia	3912	LAMB1	OMIM:615191
HP:0002282	Gray matter heterotopia	79633	FAT4	OMIM:615546
HP:0002282	Gray matter heterotopia	8642	DCHS1	OMIM:601390
HP:0002282	Gray matter heterotopia	5048	PAFAH1B1	OMIM:607432
HP:0002282	Gray matter heterotopia	2009	EML1	OMIM:600348
HP:0002282	Gray matter heterotopia	203068	TUBB	OMIM:615771
HP:0002282	Gray matter heterotopia	387119	CEP85L	OMIM:618873
HP:0002283	Global brain atrophy	5621	PRNP	ORPHA:282166
HP:0002283	Global brain atrophy	5621	PRNP	OMIM:603218
HP:0002283	Global brain atrophy	1798	DPAGT1	ORPHA:86309
HP:0002283	Global brain atrophy	7737	RNF113A	OMIM:300953
HP:0002283	Global brain atrophy	51604	PIGT	ORPHA:369837
HP:0002283	Global brain atrophy	56006	SMG9	OMIM:616920
HP:0002283	Global brain atrophy	124997	WDR81	OMIM:610185
HP:0002283	Global brain atrophy	1593	CYP27A1	ORPHA:909
HP:0002283	Global brain atrophy	25782	RAB3GAP2	OMIM:614225
HP:0002283	Global brain atrophy	9255	AIMP1	OMIM:260600
HP:0002283	Global brain atrophy	85476	GFM1	OMIM:609060
HP:0002283	Global brain atrophy	285175	UNC80	OMIM:616801
HP:0002283	Global brain atrophy	8021	NUP214	OMIM:618426
HP:0002283	Global brain atrophy	90624	LYRM7	OMIM:615838
HP:0002283	Global brain atrophy	55775	TDP1	ORPHA:94124
HP:0002283	Global brain atrophy	79796	ALG9	OMIM:608776
HP:0002283	Global brain atrophy	2521	FUS	ORPHA:275872
HP:0002283	Global brain atrophy	8878	SQSTM1	ORPHA:275872
HP:0002283	Global brain atrophy	7415	VCP	ORPHA:275872
HP:0002283	Global brain atrophy	23435	TARDBP	ORPHA:275872
HP:0002283	Global brain atrophy	29110	TBK1	ORPHA:275872
HP:0002283	Global brain atrophy	400916	CHCHD10	ORPHA:275872
HP:0002283	Global brain atrophy	6335	SCN9A	ORPHA:33069
HP:0002283	Global brain atrophy	6326	SCN2A	ORPHA:33069
HP:0002283	Global brain atrophy	6326	SCN2A	OMIM:613721
HP:0002283	Global brain atrophy	2554	GABRA1	ORPHA:33069
HP:0002283	Global brain atrophy	6323	SCN1A	ORPHA:33069
HP:0002283	Global brain atrophy	6324	SCN1B	ORPHA:33069
HP:0002283	Global brain atrophy	57526	PCDH19	ORPHA:33069
HP:0002283	Global brain atrophy	2566	GABRG2	ORPHA:33069
HP:0002283	Global brain atrophy	1528	CYB5A	ORPHA:621
HP:0002283	Global brain atrophy	1727	CYB5R3	ORPHA:621
HP:0002283	Global brain atrophy	170302	ARX	OMIM:308350
HP:0002283	Global brain atrophy	83475	DOHH	OMIM:620066
HP:0002283	Global brain atrophy	80025	PANK2	OMIM:234200
HP:0002283	Global brain atrophy	25915	NDUFAF3	ORPHA:70474
HP:0002283	Global brain atrophy	4714	NDUFB8	ORPHA:70474
HP:0002283	Global brain atrophy	4720	NDUFS2	ORPHA:70474
HP:0002283	Global brain atrophy	9997	SCO2	ORPHA:70474
HP:0002283	Global brain atrophy	6834	SURF1	ORPHA:70474
HP:0002283	Global brain atrophy	55593	OTUD5	OMIM:301056
HP:0002283	Global brain atrophy	51412	ACTL6B	OMIM:618470
HP:0002283	Global brain atrophy	128240	NAXE	OMIM:617186
HP:0002283	Global brain atrophy	25828	TXN2	ORPHA:478029
HP:0002283	Global brain atrophy	25828	TXN2	OMIM:616811
HP:0002283	Global brain atrophy	23287	AGTPBP1	OMIM:618276
HP:0002283	Global brain atrophy	790	CAD	OMIM:616457
HP:0002283	Global brain atrophy	2782	GNB1	OMIM:616973
HP:0002283	Global brain atrophy	55163	PNPO	ORPHA:79096
HP:0002283	Global brain atrophy	5660	PSAP	OMIM:611722
HP:0002283	Global brain atrophy	79944	L2HGDH	OMIM:236792
HP:0002283	Global brain atrophy	8869	ST3GAL5	OMIM:609056
HP:0002283	Global brain atrophy	1436	CSF1R	OMIM:221820
HP:0002283	Global brain atrophy	79868	ALG13	ORPHA:324422
HP:0002283	Global brain atrophy	5354	PLP1	OMIM:312080
HP:0002283	Global brain atrophy	6651	SON	ORPHA:500150
HP:0002283	Global brain atrophy	1540	CYLD	OMIM:619132
HP:0002283	Global brain atrophy	215	ABCD1	ORPHA:139396
HP:0002283	Global brain atrophy	1315	COPB1	OMIM:619255
HP:0002283	Global brain atrophy	10352	WARS2	OMIM:619738
HP:0002283	Global brain atrophy	29920	PYCR2	ORPHA:481152
HP:0002283	Global brain atrophy	2074	ERCC6	OMIM:278800
HP:0002283	Global brain atrophy	128989	TANGO2	ORPHA:480864
HP:0002283	Global brain atrophy	22827	PUF60	ORPHA:508488
HP:0002283	Global brain atrophy	1717	DHCR7	OMIM:270400
HP:0002283	Global brain atrophy	1678	TIMM8A	ORPHA:52368
HP:0002283	Global brain atrophy	8803	SUCLA2	OMIM:612073
HP:0002283	Global brain atrophy	79587	CARS2	OMIM:616672
HP:0002283	Global brain atrophy	93627	TBCK	ORPHA:488632
HP:0002283	Global brain atrophy	7407	VARS1	OMIM:617802
HP:0002283	Global brain atrophy	8398	PLA2G6	OMIM:612953
HP:0002283	Global brain atrophy	6304	SATB1	OMIM:619229
HP:0002283	Global brain atrophy	27010	TPK1	OMIM:614458
HP:0002283	Global brain atrophy	10695	CNPY3	OMIM:617929
HP:0002283	Global brain atrophy	6622	SNCA	OMIM:168601
HP:0000653	Sparse eyelashes	147495	APCDD1	OMIM:605389
HP:0000653	Sparse eyelashes	147495	APCDD1	ORPHA:55654
HP:0000653	Sparse eyelashes	60529	ALX4	OMIM:613451
HP:0000653	Sparse eyelashes	81607	NECTIN4	OMIM:613573
HP:0000653	Sparse eyelashes	100151683	RNU4ATAC	OMIM:210710
HP:0000653	Sparse eyelashes	8092	ALX1	OMIM:613456
HP:0000653	Sparse eyelashes	8092	ALX1	ORPHA:306542
HP:0000653	Sparse eyelashes	57539	WDR35	OMIM:613610
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:614941
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:129490
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:224900
HP:0000653	Sparse eyelashes	1736	DKC1	OMIM:305000
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:604292
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:106260
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:129400
HP:0000653	Sparse eyelashes	9401	RECQL4	OMIM:268400
HP:0000653	Sparse eyelashes	9401	RECQL4	OMIM:266280
HP:0000653	Sparse eyelashes	2706	GJB2	OMIM:602540
HP:0000653	Sparse eyelashes	2706	GJB2	ORPHA:477
HP:0000653	Sparse eyelashes	2706	GJB2	OMIM:148210
HP:0000653	Sparse eyelashes	51360	MBTPS2	OMIM:308800
HP:0000653	Sparse eyelashes	267010	RNU12	OMIM:603116
HP:0000653	Sparse eyelashes	1825	DSC3	OMIM:613102
HP:0000653	Sparse eyelashes	4953	ODC1	ORPHA:544488
HP:0000653	Sparse eyelashes	4953	ODC1	OMIM:619075
HP:0000653	Sparse eyelashes	9076	CLDN1	ORPHA:59303
HP:0000653	Sparse eyelashes	9076	CLDN1	OMIM:607626
HP:0000653	Sparse eyelashes	7298	TYMS	OMIM:620040
HP:0000653	Sparse eyelashes	6595	SMARCA2	OMIM:619293
HP:0000653	Sparse eyelashes	83999	KREMEN1	OMIM:617392
HP:0000653	Sparse eyelashes	1896	EDA	OMIM:305100
HP:0000653	Sparse eyelashes	10265	IRX5	OMIM:611174
HP:0000653	Sparse eyelashes	112802	KRT71	OMIM:615896
HP:0000653	Sparse eyelashes	1801	DPH1	OMIM:616901
HP:0000653	Sparse eyelashes	22845	DOLK	OMIM:610768
HP:0000653	Sparse eyelashes	10804	GJB6	OMIM:129500
HP:0000653	Sparse eyelashes	10804	GJB6	ORPHA:477
HP:0000653	Sparse eyelashes	10804	GJB6	ORPHA:189
HP:0000653	Sparse eyelashes	6768	ST14	OMIM:602400
HP:0000653	Sparse eyelashes	7286	TUFT1	OMIM:607655
HP:0000653	Sparse eyelashes	1301	COL11A1	ORPHA:560
HP:0000653	Sparse eyelashes	9896	FIG4	ORPHA:3472
HP:0000653	Sparse eyelashes	9896	FIG4	OMIM:216340
HP:0000653	Sparse eyelashes	55697	VAC14	ORPHA:3472
HP:0000653	Sparse eyelashes	10682	EBP	ORPHA:35173
HP:0000653	Sparse eyelashes	10682	EBP	OMIM:302960
HP:0000653	Sparse eyelashes	1474	CST6	OMIM:618535
HP:0000653	Sparse eyelashes	374393	FAM111B	OMIM:615704
HP:0000653	Sparse eyelashes	2697	GJA1	OMIM:257850
HP:0000653	Sparse eyelashes	2697	GJA1	ORPHA:1010
HP:0000653	Sparse eyelashes	54345	SOX18	OMIM:137940
HP:0000653	Sparse eyelashes	11285	B4GALT7	ORPHA:75496
HP:0000653	Sparse eyelashes	200879	LIPH	OMIM:604379
HP:0000653	Sparse eyelashes	200879	LIPH	ORPHA:55654
HP:0000653	Sparse eyelashes	147183	KRT25	OMIM:616760
HP:0000653	Sparse eyelashes	55651	NHP2	OMIM:224230
HP:0000653	Sparse eyelashes	55505	NOP10	OMIM:224230
HP:0000653	Sparse eyelashes	1001	CDH3	OMIM:225280
HP:0000653	Sparse eyelashes	6023	RMRP	OMIM:250250
HP:0000653	Sparse eyelashes	117581	TWIST2	OMIM:209885
HP:0000653	Sparse eyelashes	1909	EDNRA	OMIM:616367
HP:0000653	Sparse eyelashes	79574	EPS8L3	OMIM:612841
HP:0000653	Sparse eyelashes	10283	CWC27	OMIM:250410
HP:0000653	Sparse eyelashes	11128	POLR3A	OMIM:264090
HP:0000653	Sparse eyelashes	3675	ITGA3	OMIM:614748
HP:0000653	Sparse eyelashes	10913	EDAR	OMIM:129490
HP:0000653	Sparse eyelashes	10913	EDAR	OMIM:224900
HP:0000653	Sparse eyelashes	4047	LSS	ORPHA:55654
HP:0000653	Sparse eyelashes	6144	RPL21	ORPHA:55654
HP:0000653	Sparse eyelashes	147409	DSG4	ORPHA:55654
HP:0000653	Sparse eyelashes	147409	DSG4	OMIM:607903
HP:0000653	Sparse eyelashes	6635	SNRPE	ORPHA:55654
HP:0000653	Sparse eyelashes	10161	LPAR6	ORPHA:55654
HP:0000653	Sparse eyelashes	10161	LPAR6	OMIM:278150
HP:0000653	Sparse eyelashes	51611	DPH5	OMIM:620070
HP:0000653	Sparse eyelashes	136647	MPLKIP	OMIM:234050
HP:0000653	Sparse eyelashes	5605	MAP2K2	OMIM:615280
HP:0000653	Sparse eyelashes	25959	KANK2	OMIM:616099
HP:0000653	Sparse eyelashes	54676	GTPBP2	OMIM:617988
HP:0000653	Sparse eyelashes	84946	LTV1	OMIM:620199
HP:0000653	Sparse eyelashes	4763	NF1	ORPHA:139474
HP:0000653	Sparse eyelashes	1748	DLX4	OMIM:616788
HP:0000653	Sparse eyelashes	5818	NECTIN1	OMIM:225060
HP:0000653	Sparse eyelashes	84168	ANTXR1	OMIM:230740
HP:0000653	Sparse eyelashes	84168	ANTXR1	ORPHA:2067
HP:0000653	Sparse eyelashes	8815	BANF1	OMIM:614008
HP:0000653	Sparse eyelashes	10269	ZMPSTE24	OMIM:275210
HP:0000653	Sparse eyelashes	121391	KRT74	OMIM:614929
HP:0000653	Sparse eyelashes	641	BLM	ORPHA:125
HP:0000653	Sparse eyelashes	90121	TSR2	OMIM:300946
HP:0000653	Sparse eyelashes	120766137	HRURF	OMIM:146550
HP:0000653	Sparse eyelashes	7227	TRPS1	ORPHA:77258
HP:0000653	Sparse eyelashes	11005	SPINK5	ORPHA:634
HP:0000653	Sparse eyelashes	10262	SF3B4	ORPHA:245
HP:0000653	Sparse eyelashes	10262	SF3B4	OMIM:154400
HP:0000653	Sparse eyelashes	6949	TCOF1	OMIM:154500
HP:0002287	Progressive alopecia	8626	TP63	OMIM:129400
HP:0000561	Absent eyelashes	54345	SOX18	OMIM:137940
HP:0000561	Absent eyelashes	54345	SOX18	OMIM:607823
HP:0000561	Absent eyelashes	54345	SOX18	ORPHA:69735
HP:0000561	Absent eyelashes	8626	TP63	OMIM:106260
HP:0000561	Absent eyelashes	5317	PKP1	OMIM:604536
HP:0000561	Absent eyelashes	1896	EDA	OMIM:305100
HP:0000561	Absent eyelashes	1832	DSP	ORPHA:158687
HP:0000561	Absent eyelashes	3728	JUP	ORPHA:158687
HP:0000561	Absent eyelashes	4035	LRP1	OMIM:604093
HP:0000561	Absent eyelashes	673	BRAF	OMIM:115150
HP:0000561	Absent eyelashes	128178	EDARADD	OMIM:614941
HP:0000561	Absent eyelashes	64682	ANAPC1	OMIM:618625
HP:0000561	Absent eyelashes	11128	POLR3A	OMIM:264090
HP:0000561	Absent eyelashes	10269	ZMPSTE24	OMIM:275210
HP:0000561	Absent eyelashes	80144	FRAS1	OMIM:219000
HP:0000561	Absent eyelashes	3891	KRT85	OMIM:602032
HP:0000561	Absent eyelashes	55806	HR	ORPHA:701
HP:0000561	Absent eyelashes	55806	HR	OMIM:203655
HP:0000561	Absent eyelashes	10283	CWC27	ORPHA:166035
HP:0000561	Absent eyelashes	117581	TWIST2	ORPHA:920
HP:0000561	Absent eyelashes	117581	TWIST2	OMIM:200110
HP:0000561	Absent eyelashes	9401	RECQL4	OMIM:268400
HP:0000561	Absent eyelashes	2255	FGF10	OMIM:620193
HP:0000561	Absent eyelashes	2706	GJB2	OMIM:602540
HP:0000561	Absent eyelashes	84172	POLR1B	ORPHA:861
HP:0000561	Absent eyelashes	9533	POLR1C	ORPHA:861
HP:0000561	Absent eyelashes	51082	POLR1D	ORPHA:861
HP:0000561	Absent eyelashes	6949	TCOF1	ORPHA:861
HP:0000561	Absent eyelashes	51360	MBTPS2	OMIM:308205
HP:0000561	Absent eyelashes	54101	RIPK4	OMIM:263650
HP:0000561	Absent eyelashes	4000	LMNA	ORPHA:363618
HP:0000561	Absent eyelashes	4000	LMNA	ORPHA:90153
HP:0000561	Absent eyelashes	4953	ODC1	ORPHA:544488
HP:0000561	Absent eyelashes	3229	HOXC13	OMIM:614931
HP:0000561	Absent eyelashes	10651	MTX2	ORPHA:90153
HP:0000561	Absent eyelashes	26227	PHGDH	OMIM:256520
HP:0000561	Absent eyelashes	10262	SF3B4	OMIM:154400
HP:0002289	Alopecia universalis	1832	DSP	OMIM:609638
HP:0002289	Alopecia universalis	5317	PKP1	ORPHA:158668
HP:0002289	Alopecia universalis	326	AIRE	OMIM:240300
HP:0002289	Alopecia universalis	162514	TRPV3	OMIM:614594
HP:0002289	Alopecia universalis	7421	VDR	OMIM:277440
HP:0002289	Alopecia universalis	6635	SNRPE	OMIM:615059
HP:0002289	Alopecia universalis	4000	LMNA	ORPHA:363618
HP:0002289	Alopecia universalis	197	AHSG	OMIM:203650
HP:0002289	Alopecia universalis	64065	PERP	OMIM:619208
HP:0002289	Alopecia universalis	55806	HR	OMIM:203655
HP:0002289	Alopecia universalis	55806	HR	ORPHA:701
HP:0002289	Alopecia universalis	3559	IL2RA	OMIM:606367
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	8200	GDF5	OMIM:615072
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009446	Triangular shaped phalanges of the 3rd finger	8200	GDF5	OMIM:113100
HP:0032894	Seizure precipitated by febrile infection	11160	ERLIN2	ORPHA:280384
HP:0032894	Seizure precipitated by febrile infection	2562	GABRB3	ORPHA:64280
HP:0032894	Seizure precipitated by febrile infection	8912	CACNA1H	ORPHA:64280
HP:0032894	Seizure precipitated by febrile infection	8629	JRK	ORPHA:64280
HP:0032894	Seizure precipitated by febrile infection	8629	JRK	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	6134	RPL10	OMIM:300998
HP:0032894	Seizure precipitated by febrile infection	6134	RPL10	ORPHA:459070
HP:0032894	Seizure precipitated by febrile infection	57468	SLC12A5	OMIM:616685
HP:0032894	Seizure precipitated by febrile infection	348980	HCN1	OMIM:615871
HP:0032894	Seizure precipitated by febrile infection	348980	HCN1	OMIM:618482
HP:0032894	Seizure precipitated by febrile infection	348980	HCN1	ORPHA:36387
HP:0032894	Seizure precipitated by febrile infection	351	APP	ORPHA:324723
HP:0032894	Seizure precipitated by febrile infection	23446	SLC44A1	OMIM:618868
HP:0032894	Seizure precipitated by febrile infection	4598	MVK	OMIM:260920
HP:0032894	Seizure precipitated by febrile infection	55823	VPS11	ORPHA:466934
HP:0032894	Seizure precipitated by febrile infection	8924	HERC2	OMIM:615516
HP:0032894	Seizure precipitated by febrile infection	1788	DNMT3A	OMIM:615879
HP:0032894	Seizure precipitated by febrile infection	785	CACNB4	OMIM:613855
HP:0032894	Seizure precipitated by febrile infection	785	CACNB4	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	785	CACNB4	OMIM:607682
HP:0032894	Seizure precipitated by febrile infection	114327	EFHC1	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	114327	EFHC1	ORPHA:1941
HP:0032894	Seizure precipitated by febrile infection	2563	GABRD	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	2563	GABRD	OMIM:613060
HP:0032894	Seizure precipitated by febrile infection	2563	GABRD	ORPHA:36387
HP:0032894	Seizure precipitated by febrile infection	1181	CLCN2	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	22858	CILK1	ORPHA:307
HP:0032894	Seizure precipitated by febrile infection	22858	CILK1	OMIM:617924
HP:0032894	Seizure precipitated by febrile infection	23126	POGZ	ORPHA:468678
HP:0032894	Seizure precipitated by febrile infection	55209	SETD5	ORPHA:404440
HP:0032894	Seizure precipitated by febrile infection	154881	KCTD7	ORPHA:263516
HP:0032894	Seizure precipitated by febrile infection	5745	PTH1R	OMIM:600002
HP:0032894	Seizure precipitated by febrile infection	4784	NFIX	ORPHA:447980
HP:0032894	Seizure precipitated by febrile infection	2581	GALC	ORPHA:206443
HP:0032894	Seizure precipitated by febrile infection	80232	WDR26	ORPHA:513456
HP:0032894	Seizure precipitated by febrile infection	387119	CEP85L	OMIM:618873
HP:0032894	Seizure precipitated by febrile infection	112755	STX1B	OMIM:616172
HP:0032894	Seizure precipitated by febrile infection	112755	STX1B	ORPHA:36387
HP:0032894	Seizure precipitated by febrile infection	1841	DTYMK	OMIM:619847
HP:0032894	Seizure precipitated by febrile infection	51111	KMT5B	OMIM:617788
HP:0032894	Seizure precipitated by febrile infection	5184	PEPD	OMIM:170100
HP:0032894	Seizure precipitated by febrile infection	2782	GNB1	OMIM:616973
HP:0032894	Seizure precipitated by febrile infection	2891	GRIA2	OMIM:618917
HP:0032894	Seizure precipitated by febrile infection	6904	TBCD	ORPHA:496641
HP:0032894	Seizure precipitated by febrile infection	90161	HS6ST2	OMIM:301025
HP:0032894	Seizure precipitated by febrile infection	55777	MBD5	OMIM:156200
HP:0032894	Seizure precipitated by febrile infection	4001	LMNB1	OMIM:619179
HP:0032894	Seizure precipitated by febrile infection	815	CAMK2A	OMIM:617798
HP:0032894	Seizure precipitated by febrile infection	267010	RNU12	OMIM:620208
HP:0032894	Seizure precipitated by febrile infection	267010	RNU12	ORPHA:512260
HP:0032894	Seizure precipitated by febrile infection	51319	RSRC1	OMIM:618402
HP:0032894	Seizure precipitated by febrile infection	27315	PGAP2	OMIM:614207
HP:0032894	Seizure precipitated by febrile infection	7920	ABHD16A	OMIM:619735
HP:0032894	Seizure precipitated by febrile infection	549	AUH	OMIM:250950
HP:0032894	Seizure precipitated by febrile infection	4566	MT-TK	ORPHA:1349
HP:0032894	Seizure precipitated by febrile infection	8604	SLC25A12	OMIM:612949
HP:0032894	Seizure precipitated by febrile infection	6390	SDHB	OMIM:619224
HP:0032894	Seizure precipitated by febrile infection	2744	GLS	OMIM:618412
HP:0032894	Seizure precipitated by febrile infection	26040	SETBP1	OMIM:616078
HP:0032894	Seizure precipitated by febrile infection	2903	GRIN2A	ORPHA:289266
HP:0032894	Seizure precipitated by febrile infection	2903	GRIN2A	ORPHA:1945
HP:0032894	Seizure precipitated by febrile infection	523	ATP6V1A	OMIM:618012
HP:0032894	Seizure precipitated by febrile infection	23314	SATB2	OMIM:612313
HP:0032894	Seizure precipitated by febrile infection	55623	THUMPD1	OMIM:619989
HP:0032894	Seizure precipitated by febrile infection	84059	ADGRV1	ORPHA:36387
HP:0032894	Seizure precipitated by febrile infection	84059	ADGRV1	OMIM:604352
HP:0032894	Seizure precipitated by febrile infection	610	HCN2	OMIM:602477
HP:0032894	Seizure precipitated by febrile infection	3737	KCNA2	OMIM:616366
HP:0032894	Seizure precipitated by febrile infection	11154	AP4S1	OMIM:614067
HP:0032894	Seizure precipitated by febrile infection	64849	SLC13A3	OMIM:618384
HP:0032894	Seizure precipitated by febrile infection	22866	CNKSR2	OMIM:301008
HP:0032894	Seizure precipitated by febrile infection	6711	SPTBN1	OMIM:619475
HP:0032894	Seizure precipitated by febrile infection	8659	ALDH4A1	ORPHA:79101
HP:0032894	Seizure precipitated by febrile infection	55343	SLC35C1	OMIM:266265
HP:0032894	Seizure precipitated by febrile infection	10236	HNRNPR	OMIM:620073
HP:0032894	Seizure precipitated by febrile infection	4094	MAF	ORPHA:1272
HP:0032894	Seizure precipitated by febrile infection	79143	MBOAT7	OMIM:617188
HP:0032894	Seizure precipitated by febrile infection	1806	DPYD	ORPHA:1675
HP:0032894	Seizure precipitated by febrile infection	55717	WDR11	OMIM:620237
HP:0032894	Seizure precipitated by febrile infection	2593	GAMT	OMIM:612736
HP:0032894	Seizure precipitated by febrile infection	2556	GABRA3	OMIM:301091
HP:0032894	Seizure precipitated by febrile infection	55252	ASXL2	OMIM:617190
HP:0032894	Seizure precipitated by febrile infection	34	ACADM	ORPHA:42
HP:0032894	Seizure precipitated by febrile infection	54802	TRIT1	OMIM:617873
HP:0032894	Seizure precipitated by febrile infection	23219	FBXO28	OMIM:619777
HP:0032894	Seizure precipitated by febrile infection	27286	SRPX2	ORPHA:1945
HP:0032894	Seizure precipitated by febrile infection	84706	GPT2	ORPHA:477673
HP:0032894	Seizure precipitated by febrile infection	284361	EMC10	OMIM:619264
HP:0032894	Seizure precipitated by febrile infection	3763	KCNJ6	OMIM:614098
HP:0032894	Seizure precipitated by febrile infection	57094	CPA6	OMIM:614418
HP:0032894	Seizure precipitated by febrile infection	6792	CDKL5	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	3736	KCNA1	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	9091	PIGQ	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	2775	GNAO1	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	81603	TRIM8	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	2902	GRIN1	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	79751	SLC25A22	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	150094	SIK1	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	8573	CASK	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	23312	DMXL2	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	2917	GRM7	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	170302	ARX	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	11284	PNKP	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	51227	PIGP	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	4761	NEUROD2	ORPHA:1934
HP:0032894	Seizure precipitated by febrile infection	283989	TSEN54	ORPHA:2524
HP:0032894	Seizure precipitated by febrile infection	116461	TSEN15	ORPHA:2524
HP:0032894	Seizure precipitated by febrile infection	79042	TSEN34	ORPHA:2524
HP:0032894	Seizure precipitated by febrile infection	80746	TSEN2	ORPHA:2524
HP:0032894	Seizure precipitated by febrile infection	51091	SEPSECS	ORPHA:2524
HP:0032894	Seizure precipitated by febrile infection	10157	AASS	ORPHA:2203
HP:0032894	Seizure precipitated by febrile infection	6328	SCN3A	OMIM:617935
HP:0032894	Seizure precipitated by febrile infection	3785	KCNQ2	ORPHA:1949
HP:0032894	Seizure precipitated by febrile infection	3785	KCNQ2	ORPHA:306
HP:0032894	Seizure precipitated by febrile infection	3786	KCNQ3	ORPHA:1949
HP:0032894	Seizure precipitated by febrile infection	3786	KCNQ3	ORPHA:306
HP:0032894	Seizure precipitated by febrile infection	10815	CPLX1	ORPHA:352582
HP:0032894	Seizure precipitated by febrile infection	57465	TBC1D24	ORPHA:352582
HP:0032894	Seizure precipitated by febrile infection	51322	WAC	ORPHA:466950
HP:0032894	Seizure precipitated by febrile infection	1859	DYRK1A	ORPHA:464311
HP:0032894	Seizure precipitated by febrile infection	6513	SLC2A1	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	8831	SYNGAP1	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	1173	AP2M1	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	340533	NEXMIF	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	1106	CHD2	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	6529	SLC6A1	ORPHA:1942
HP:0032894	Seizure precipitated by febrile infection	8131	NPRL3	ORPHA:98820
HP:0032894	Seizure precipitated by febrile infection	10641	NPRL2	ORPHA:98820
HP:0032894	Seizure precipitated by febrile infection	9681	DEPDC5	ORPHA:98820
HP:0032894	Seizure precipitated by febrile infection	57526	PCDH19	ORPHA:101039
HP:0032894	Seizure precipitated by febrile infection	57526	PCDH19	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	25839	COG4	ORPHA:263501
HP:0032894	Seizure precipitated by febrile infection	84188	FAR1	OMIM:619338
HP:0032894	Seizure precipitated by febrile infection	5138	PDE2A	ORPHA:31709
HP:0032894	Seizure precipitated by febrile infection	6334	SCN8A	ORPHA:31709
HP:0032894	Seizure precipitated by febrile infection	112476	PRRT2	ORPHA:31709
HP:0032894	Seizure precipitated by febrile infection	112476	PRRT2	ORPHA:569
HP:0032894	Seizure precipitated by febrile infection	6335	SCN9A	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	6326	SCN2A	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	2554	GABRA1	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	6323	SCN1A	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	6323	SCN1A	ORPHA:569
HP:0032894	Seizure precipitated by febrile infection	6324	SCN1B	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	2566	GABRG2	ORPHA:33069
HP:0032894	Seizure precipitated by febrile infection	135	ADORA2A	ORPHA:363549
HP:0032894	Seizure precipitated by febrile infection	773	CACNA1A	ORPHA:569
HP:0032894	Seizure precipitated by febrile infection	477	ATP1A2	ORPHA:569
HP:0032895	Febrile seizure outside the age of 3 months to 6 years	51111	KMT5B	OMIM:617788
HP:0032898	Focal automatism seizure	5649	RELN	OMIM:600512
HP:0032898	Focal automatism seizure	64780	MICAL1	OMIM:600512
HP:0032898	Focal automatism seizure	9211	LGI1	OMIM:600512
HP:0032898	Focal automatism seizure	10319	LAMC3	OMIM:614115
HP:0002290	Poliosis	355	FAS	ORPHA:3437
HP:0002290	Poliosis	26191	PTPN22	ORPHA:3437
HP:0002290	Poliosis	54499	TMCO1	OMIM:213980
HP:0002292	Frontal balding	2702	GJA5	OMIM:612474
HP:0002292	Frontal balding	2703	GJA8	OMIM:612474
HP:0002292	Frontal balding	10084	PQBP1	ORPHA:93945
HP:0002292	Frontal balding	54361	WNT4	ORPHA:247768
HP:0002292	Frontal balding	7555	CNBP	OMIM:602668
HP:0002292	Frontal balding	7840	ALMS1	ORPHA:64
HP:0002292	Frontal balding	1760	DMPK	OMIM:160900
HP:0002292	Frontal balding	2908	NR3C1	ORPHA:786
HP:0002292	Frontal balding	215	ABCD1	ORPHA:139399
HP:0002292	Frontal balding	6513	SLC2A1	ORPHA:1942
HP:0002292	Frontal balding	8831	SYNGAP1	ORPHA:1942
HP:0002292	Frontal balding	1173	AP2M1	ORPHA:1942
HP:0002292	Frontal balding	6323	SCN1A	ORPHA:1942
HP:0002292	Frontal balding	340533	NEXMIF	ORPHA:1942
HP:0002292	Frontal balding	1106	CHD2	ORPHA:1942
HP:0002292	Frontal balding	6529	SLC6A1	ORPHA:1942
HP:0002293	Alopecia of scalp	1281	COL3A1	OMIM:130050
HP:0002293	Alopecia of scalp	1893	ECM1	ORPHA:530
HP:0002293	Alopecia of scalp	5317	PKP1	OMIM:604536
HP:0002293	Alopecia of scalp	5654	HTRA1	ORPHA:199354
HP:0002293	Alopecia of scalp	54800	KLHL24	OMIM:617294
HP:0002293	Alopecia of scalp	1041	CDSN	ORPHA:90368
HP:0002293	Alopecia of scalp	121391	KRT74	ORPHA:90368
HP:0002293	Alopecia of scalp	5297	PI4KA	ORPHA:436252
HP:0002293	Alopecia of scalp	57217	TTC7A	ORPHA:436252
HP:0002293	Alopecia of scalp	404672	GTF2H5	ORPHA:33364
HP:0002293	Alopecia of scalp	833	CARS1	ORPHA:33364
HP:0002293	Alopecia of scalp	2068	ERCC2	ORPHA:33364
HP:0002293	Alopecia of scalp	7737	RNF113A	ORPHA:33364
HP:0002293	Alopecia of scalp	136647	MPLKIP	ORPHA:33364
HP:0002293	Alopecia of scalp	6897	TARS1	ORPHA:33364
HP:0002293	Alopecia of scalp	2071	ERCC3	ORPHA:33364
HP:0002293	Alopecia of scalp	2961	GTF2E2	ORPHA:33364
HP:0002293	Alopecia of scalp	11128	POLR3A	OMIM:264090
HP:0002293	Alopecia of scalp	64421	DCLRE1C	OMIM:602450
HP:0002293	Alopecia of scalp	80781	COL18A1	OMIM:267750
HP:0002293	Alopecia of scalp	10999	SLC27A4	OMIM:608649
HP:0002293	Alopecia of scalp	55315	SLC29A3	OMIM:602782
HP:0002293	Alopecia of scalp	5605	MAP2K2	OMIM:615280
HP:0002293	Alopecia of scalp	55630	SLC39A4	OMIM:201100
HP:0002293	Alopecia of scalp	23328	SASH1	OMIM:618373
HP:0002293	Alopecia of scalp	7486	WRN	OMIM:277700
HP:0002293	Alopecia of scalp	8626	TP63	OMIM:103285
HP:0002293	Alopecia of scalp	3861	KRT14	OMIM:125595
HP:0002293	Alopecia of scalp	10804	GJB6	ORPHA:477
HP:0002293	Alopecia of scalp	2706	GJB2	ORPHA:477
HP:0002293	Alopecia of scalp	2706	GJB2	OMIM:602540
HP:0002293	Alopecia of scalp	51360	MBTPS2	OMIM:308800
HP:0002293	Alopecia of scalp	1308	COL17A1	OMIM:619787
HP:0002293	Alopecia of scalp	1308	COL17A1	ORPHA:251393
HP:0002293	Alopecia of scalp	1308	COL17A1	ORPHA:79402
HP:0002293	Alopecia of scalp	5339	PLEC	OMIM:226670
HP:0002293	Alopecia of scalp	5339	PLEC	ORPHA:158684
HP:0002293	Alopecia of scalp	3691	ITGB4	ORPHA:158684
HP:0002293	Alopecia of scalp	3691	ITGB4	ORPHA:251393
HP:0002293	Alopecia of scalp	3691	ITGB4	ORPHA:79402
HP:0002293	Alopecia of scalp	10682	EBP	ORPHA:35173
HP:0002293	Alopecia of scalp	126695	KDF1	OMIM:617337
HP:0002293	Alopecia of scalp	387	RHOA	OMIM:618727
HP:0002293	Alopecia of scalp	9076	CLDN1	ORPHA:59303
HP:0002293	Alopecia of scalp	7390	UROS	ORPHA:79277
HP:0002293	Alopecia of scalp	2623	GATA1	ORPHA:79277
HP:0002293	Alopecia of scalp	7389	UROD	ORPHA:95159
HP:0002293	Alopecia of scalp	3909	LAMA3	ORPHA:79402
HP:0002293	Alopecia of scalp	3918	LAMC2	ORPHA:79402
HP:0002293	Alopecia of scalp	3914	LAMB3	ORPHA:79402
HP:0002296	Progressive hypotrichosis	5818	NECTIN1	OMIM:225060
HP:0002297	Red hair	5122	PCSK1	ORPHA:71528
HP:0002297	Red hair	5573	PRKAR1A	ORPHA:280651
HP:0002297	Red hair	5573	PRKAR1A	OMIM:160980
HP:0002297	Red hair	5144	PDE4D	ORPHA:280651
HP:0002297	Red hair	5144	PDE4D	OMIM:614613
HP:0002297	Red hair	4948	OCA2	OMIM:203200
HP:0002297	Red hair	4157	MC1R	OMIM:203200
HP:0002297	Red hair	5443	POMC	OMIM:609734
HP:0002297	Red hair	5443	POMC	ORPHA:71526
HP:0002297	Red hair	7306	TYRP1	OMIM:203290
HP:0002297	Red hair	7306	TYRP1	ORPHA:79433
HP:0002297	Red hair	84627	ZNF469	OMIM:229200
HP:0002298	Absent hair	8626	TP63	OMIM:106260
HP:0002298	Absent hair	4035	LRP1	OMIM:604093
HP:0002298	Absent hair	2255	FGF10	OMIM:620193
HP:0002298	Absent hair	2706	GJB2	OMIM:602540
HP:0002298	Absent hair	84172	POLR1B	ORPHA:861
HP:0002298	Absent hair	9533	POLR1C	ORPHA:861
HP:0002298	Absent hair	51082	POLR1D	ORPHA:861
HP:0002298	Absent hair	6949	TCOF1	ORPHA:861
HP:0002298	Absent hair	3229	HOXC13	OMIM:614931
HP:0002298	Absent hair	10651	MTX2	ORPHA:90153
HP:0002298	Absent hair	26227	PHGDH	OMIM:256520
HP:0002298	Absent hair	26137	ZBTB20	OMIM:259050
HP:0002298	Absent hair	4047	LSS	OMIM:618275
HP:0002298	Absent hair	348	APOE	OMIM:269600
HP:0002298	Absent hair	3691	ITGB4	OMIM:619816
HP:0002298	Absent hair	55012	PPP2R3C	OMIM:618419
HP:0002298	Absent hair	6635	SNRPE	OMIM:615059
HP:0002298	Absent hair	79574	EPS8L3	OMIM:612841
HP:0002298	Absent hair	367	AR	ORPHA:99429
HP:0002298	Absent hair	1586	CYP17A1	ORPHA:90793
HP:0002298	Absent hair	6926	TBX3	ORPHA:3138
HP:0002298	Absent hair	54345	SOX18	OMIM:137940
HP:0002298	Absent hair	54345	SOX18	ORPHA:69735
HP:0002298	Absent hair	54345	SOX18	OMIM:607823
HP:0002298	Absent hair	5317	PKP1	OMIM:604536
HP:0002298	Absent hair	4953	ODC1	OMIM:619075
HP:0002298	Absent hair	4953	ODC1	ORPHA:544488
HP:0002298	Absent hair	8313	AXIN2	OMIM:608615
HP:0002298	Absent hair	1832	DSP	ORPHA:158687
HP:0002298	Absent hair	3728	JUP	ORPHA:158687
HP:0002298	Absent hair	3845	KRAS	OMIM:615278
HP:0002298	Absent hair	673	BRAF	OMIM:115150
HP:0002298	Absent hair	8092	ALX1	OMIM:613456
HP:0002298	Absent hair	128178	EDARADD	OMIM:614941
HP:0002298	Absent hair	64682	ANAPC1	OMIM:618625
HP:0002298	Absent hair	11128	POLR3A	OMIM:264090
HP:0002298	Absent hair	80144	FRAS1	OMIM:219000
HP:0002298	Absent hair	3891	KRT85	OMIM:602032
HP:0002298	Absent hair	55806	HR	ORPHA:701
HP:0002298	Absent hair	55806	HR	OMIM:203655
HP:0002298	Absent hair	10283	CWC27	ORPHA:166035
HP:0002298	Absent hair	9401	RECQL4	OMIM:268400
HP:0002298	Absent hair	10804	GJB6	ORPHA:189
HP:0002298	Absent hair	4000	LMNA	ORPHA:740
HP:0002298	Absent hair	4000	LMNA	ORPHA:363618
HP:0002298	Absent hair	10269	ZMPSTE24	ORPHA:740
HP:0002298	Absent hair	51360	MBTPS2	OMIM:308205
HP:0002298	Absent hair	51360	MBTPS2	ORPHA:2273
HP:0002298	Absent hair	5605	MAP2K2	OMIM:615280
HP:0002298	Absent hair	117581	TWIST2	OMIM:200110
HP:0002298	Absent hair	117581	TWIST2	ORPHA:920
HP:0002298	Absent hair	84946	LTV1	OMIM:620199
HP:0002298	Absent hair	1896	EDA	OMIM:305100
HP:0002298	Absent hair	7390	UROS	OMIM:263700
HP:0002298	Absent hair	5297	PI4KA	ORPHA:436252
HP:0002298	Absent hair	57217	TTC7A	ORPHA:436252
HP:0002298	Absent hair	6595	SMARCA2	OMIM:601358
HP:0002298	Absent hair	54101	RIPK4	OMIM:263650
HP:0002298	Absent hair	2697	GJA1	ORPHA:1010
HP:0002298	Absent hair	89910	UBE3B	ORPHA:2707
HP:0002298	Absent hair	1001	CDH3	ORPHA:1897
HP:0002298	Absent hair	1041	CDSN	ORPHA:90368
HP:0002298	Absent hair	121391	KRT74	ORPHA:90368
HP:0002298	Absent hair	81607	NECTIN4	OMIM:613573
HP:0002298	Absent hair	2796	GNRH1	OMIM:614841
HP:0002298	Absent hair	2516	NR5A1	OMIM:612964
HP:0002298	Absent hair	10262	SF3B4	OMIM:154400
HP:0002299	Brittle hair	64840	PORCN	OMIM:305600
HP:0002299	Brittle hair	200879	LIPH	OMIM:604379
HP:0002299	Brittle hair	200879	LIPH	ORPHA:170
HP:0002299	Brittle hair	10269	ZMPSTE24	OMIM:608612
HP:0002299	Brittle hair	3887	KRT81	OMIM:158000
HP:0002299	Brittle hair	3887	KRT81	ORPHA:573
HP:0002299	Brittle hair	3889	KRT83	OMIM:158000
HP:0002299	Brittle hair	3889	KRT83	ORPHA:573
HP:0002299	Brittle hair	3892	KRT86	OMIM:158000
HP:0002299	Brittle hair	3892	KRT86	ORPHA:573
HP:0002299	Brittle hair	7062	TCHH	OMIM:617252
HP:0002299	Brittle hair	51095	TRNT1	OMIM:616084
HP:0002299	Brittle hair	7737	RNF113A	OMIM:300953
HP:0002299	Brittle hair	7737	RNF113A	ORPHA:33364
HP:0002299	Brittle hair	128178	EDARADD	OMIM:614940
HP:0002299	Brittle hair	6228	RPS23	OMIM:617412
HP:0002299	Brittle hair	435	ASL	OMIM:207900
HP:0002299	Brittle hair	6897	TARS1	OMIM:618546
HP:0002299	Brittle hair	6897	TARS1	ORPHA:33364
HP:0002299	Brittle hair	538	ATP7A	OMIM:309400
HP:0002299	Brittle hair	3891	KRT85	OMIM:602032
HP:0002299	Brittle hair	1041	CDSN	OMIM:270300
HP:0002299	Brittle hair	23545	ATP6V0A2	OMIM:219200
HP:0002299	Brittle hair	2697	GJA1	OMIM:104100
HP:0002299	Brittle hair	2697	GJA1	ORPHA:2710
HP:0002299	Brittle hair	136647	MPLKIP	OMIM:234050
HP:0002299	Brittle hair	136647	MPLKIP	ORPHA:33364
HP:0002299	Brittle hair	11005	SPINK5	OMIM:256500
HP:0002299	Brittle hair	10084	PQBP1	ORPHA:93947
HP:0002299	Brittle hair	10084	PQBP1	OMIM:309500
HP:0002299	Brittle hair	54676	GTPBP2	OMIM:617988
HP:0002299	Brittle hair	79158	GNPTAB	OMIM:252500
HP:0002299	Brittle hair	617	BCS1L	OMIM:124000
HP:0002299	Brittle hair	617	BCS1L	ORPHA:123
HP:0002299	Brittle hair	617	BCS1L	OMIM:262000
HP:0002299	Brittle hair	29957	SLC25A24	ORPHA:2963
HP:0002299	Brittle hair	147409	DSG4	ORPHA:573
HP:0002299	Brittle hair	147409	DSG4	OMIM:607903
HP:0002299	Brittle hair	83999	KREMEN1	OMIM:617392
HP:0002299	Brittle hair	4784	NFIX	OMIM:602535
HP:0002299	Brittle hair	1896	EDA	OMIM:305100
HP:0002299	Brittle hair	112802	KRT71	ORPHA:170
HP:0002299	Brittle hair	121391	KRT74	ORPHA:170
HP:0002299	Brittle hair	121391	KRT74	OMIM:614929
HP:0002299	Brittle hair	10161	LPAR6	ORPHA:170
HP:0002299	Brittle hair	147183	KRT25	ORPHA:170
HP:0002299	Brittle hair	10484	SEC23A	ORPHA:50814
HP:0002299	Brittle hair	10484	SEC23A	OMIM:607812
HP:0002299	Brittle hair	9652	SKIC3	OMIM:222470
HP:0002299	Brittle hair	9652	SKIC3	ORPHA:84064
HP:0002299	Brittle hair	57479	PRR12	OMIM:619539
HP:0002299	Brittle hair	5818	NECTIN1	OMIM:225060
HP:0002299	Brittle hair	6499	SKIC2	OMIM:614602
HP:0002299	Brittle hair	6499	SKIC2	ORPHA:84064
HP:0002299	Brittle hair	5604	MAP2K1	ORPHA:1340
HP:0002299	Brittle hair	5605	MAP2K2	ORPHA:1340
HP:0002299	Brittle hair	3845	KRAS	ORPHA:1340
HP:0002299	Brittle hair	673	BRAF	ORPHA:1340
HP:0002299	Brittle hair	2961	GTF2E2	OMIM:616943
HP:0002299	Brittle hair	2961	GTF2E2	ORPHA:33364
HP:0002299	Brittle hair	875	CBS	OMIM:236200
HP:0002299	Brittle hair	404672	GTF2H5	ORPHA:33364
HP:0002299	Brittle hair	404672	GTF2H5	OMIM:616395
HP:0002299	Brittle hair	833	CARS1	ORPHA:33364
HP:0002299	Brittle hair	833	CARS1	OMIM:618891
HP:0002299	Brittle hair	2068	ERCC2	ORPHA:33364
HP:0002299	Brittle hair	2068	ERCC2	OMIM:601675
HP:0002299	Brittle hair	2071	ERCC3	ORPHA:33364
HP:0002299	Brittle hair	8481	OFD1	ORPHA:2750
HP:0002299	Brittle hair	10804	GJB6	OMIM:129500
HP:0002299	Brittle hair	6768	ST14	OMIM:602400
HP:0002299	Brittle hair	222663	SCUBE3	OMIM:619184
HP:0002299	Brittle hair	1001	CDH3	ORPHA:1573
HP:0002299	Brittle hair	55210	ATAD3A	OMIM:618810
HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009460	Aplasia of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009460	Aplasia of the 3rd finger	2019	EN1	OMIM:619218
HP:0009460	Aplasia of the 3rd finger	6926	TBX3	OMIM:181450
HP:0009461	Short 3rd finger	1280	COL2A1	OMIM:271700
HP:0009461	Short 3rd finger	2778	GNAS	ORPHA:79445
HP:0009461	Short 3rd finger	8200	GDF5	OMIM:113100
HP:0009462	Radial deviation of the 3rd finger	3549	IHH	OMIM:112500
HP:0009462	Radial deviation of the 3rd finger	2263	FGFR2	OMIM:149730
HP:0009464	Ulnar deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009464	Ulnar deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	51651	PTRH2	OMIM:616263
HP:0009464	Ulnar deviation of the 2nd finger	51651	PTRH2	ORPHA:456312
HP:0009464	Ulnar deviation of the 2nd finger	3209	HOXA13	OMIM:140000
HP:0009464	Ulnar deviation of the 2nd finger	29123	ANKRD11	OMIM:148050
HP:0009464	Ulnar deviation of the 2nd finger	23483	TGDS	OMIM:616145
HP:0009465	Ulnar deviation of finger	51651	PTRH2	OMIM:616263
HP:0009465	Ulnar deviation of finger	51651	PTRH2	ORPHA:456312
HP:0009465	Ulnar deviation of finger	8200	GDF5	OMIM:113100
HP:0009465	Ulnar deviation of finger	650	BMP2	OMIM:112600
HP:0009465	Ulnar deviation of finger	3209	HOXA13	OMIM:140000
HP:0009465	Ulnar deviation of finger	29123	ANKRD11	OMIM:148050
HP:0009465	Ulnar deviation of finger	23483	TGDS	OMIM:616145
HP:0009465	Ulnar deviation of finger	1146	CHRNG	OMIM:265000
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:2053
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:1147
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:1146
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:2053
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:1147
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7476	WNT7A	OMIM:228930
HP:0009465	Ulnar deviation of finger	7140	TNNT3	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7140	TNNT3	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7169	TPM2	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7169	TPM2	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7136	TNNI2	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7136	TNNI2	ORPHA:1146
HP:0009465	Ulnar deviation of finger	23233	EXOC6B	ORPHA:93359
HP:0009465	Ulnar deviation of finger	126792	B3GALT6	ORPHA:93359
HP:0009465	Ulnar deviation of finger	4604	MYBPC1	ORPHA:1146
HP:0009465	Ulnar deviation of finger	22930	RAB3GAP1	ORPHA:1387
HP:0009465	Ulnar deviation of finger	25782	RAB3GAP2	ORPHA:1387
HP:0009465	Ulnar deviation of finger	5077	PAX3	ORPHA:1529
HP:0009465	Ulnar deviation of finger	1836	SLC26A2	ORPHA:628
HP:0009465	Ulnar deviation of finger	1836	SLC26A2	OMIM:222600
HP:0009465	Ulnar deviation of finger	6473	SHOX	ORPHA:2632
HP:0009465	Ulnar deviation of finger	50945	TBX22	ORPHA:921
HP:0009465	Ulnar deviation of finger	3265	HRAS	ORPHA:3071
HP:0009465	Ulnar deviation of finger	613	BCR	ORPHA:261330
HP:0009465	Ulnar deviation of finger	1399	CRKL	ORPHA:261330
HP:0009465	Ulnar deviation of finger	5594	MAPK1	ORPHA:261330
HP:0009465	Ulnar deviation of finger	3977	LIFR	OMIM:601559
HP:0009465	Ulnar deviation of finger	3239	HOXD13	ORPHA:93406
HP:0009465	Ulnar deviation of finger	2201	FBN2	OMIM:121050
HP:0009465	Ulnar deviation of finger	1717	DHCR7	ORPHA:818
HP:0009465	Ulnar deviation of finger	6299	SALL1	ORPHA:857
HP:0009465	Ulnar deviation of finger	51339	DACT1	ORPHA:857
HP:0009465	Ulnar deviation of finger	658	BMPR1B	ORPHA:93384
HP:0009465	Ulnar deviation of finger	10225	CD96	OMIM:211750
HP:0009465	Ulnar deviation of finger	9382	COG1	OMIM:611209
HP:0009465	Ulnar deviation of finger	389827	MYMK	ORPHA:1358
HP:0009465	Ulnar deviation of finger	101929726	MYMX	ORPHA:1358
HP:0009466	Radial deviation of finger	1836	SLC26A2	ORPHA:56304
HP:0009466	Radial deviation of finger	1836	SLC26A2	OMIM:256050
HP:0009466	Radial deviation of finger	1836	SLC26A2	OMIM:222600
HP:0009466	Radial deviation of finger	79796	ALG9	ORPHA:79328
HP:0009466	Radial deviation of finger	22858	CILK1	OMIM:612651
HP:0009466	Radial deviation of finger	1954	MEGF8	OMIM:614976
HP:0009466	Radial deviation of finger	2317	FLNB	OMIM:108721
HP:0009466	Radial deviation of finger	23019	CNOT1	OMIM:618500
HP:0009466	Radial deviation of finger	22856	CHSY1	OMIM:605282
HP:0009466	Radial deviation of finger	54928	BPNT2	OMIM:614078
HP:0009466	Radial deviation of finger	3549	IHH	OMIM:112500
HP:0009466	Radial deviation of finger	2263	FGFR2	OMIM:149730
HP:0009466	Radial deviation of finger	59341	TRPV4	OMIM:606835
HP:0009466	Radial deviation of finger	59341	TRPV4	OMIM:113500
HP:0009466	Radial deviation of finger	4920	ROR2	OMIM:268310
HP:0009466	Radial deviation of finger	5295	PIK3R1	OMIM:269880
HP:0009466	Radial deviation of finger	2245	FGD1	OMIM:305400
HP:0009466	Radial deviation of finger	10262	SF3B4	OMIM:154400
HP:0009466	Radial deviation of finger	65250	CPLANE1	OMIM:277170
HP:0009466	Radial deviation of finger	8260	NAA10	OMIM:309800
HP:0009466	Radial deviation of finger	54880	BCOR	OMIM:309800
HP:0009466	Radial deviation of finger	9241	NOG	OMIM:186570
HP:0009466	Radial deviation of finger	9241	NOG	OMIM:186500
HP:0009466	Radial deviation of finger	546	ATRX	OMIM:309580
HP:0009466	Radial deviation of finger	546	ATRX	OMIM:301040
HP:0009466	Radial deviation of finger	2146	EZH2	OMIM:277590
HP:0009466	Radial deviation of finger	84100	ARL6	OMIM:209900
HP:0009466	Radial deviation of finger	79140	CCDC28B	OMIM:209900
HP:0009466	Radial deviation of finger	582	BBS1	OMIM:209900
HP:0009466	Radial deviation of finger	157570	ESCO2	ORPHA:3103
HP:0009466	Radial deviation of finger	157570	ESCO2	OMIM:268300
HP:0009466	Radial deviation of finger	7681	MKRN3	OMIM:176270
HP:0009466	Radial deviation of finger	3653	IPW	OMIM:176270
HP:0009466	Radial deviation of finger	54551	MAGEL2	OMIM:176270
HP:0009466	Radial deviation of finger	791114	PWRN1	OMIM:176270
HP:0009466	Radial deviation of finger	100033413	SNORD116-1	OMIM:176270
HP:0009466	Radial deviation of finger	8924	HERC2	OMIM:176270
HP:0009466	Radial deviation of finger	145624	PWAR1	OMIM:176270
HP:0009466	Radial deviation of finger	23742	NPAP1	OMIM:176270
HP:0009466	Radial deviation of finger	338433	SNORD115-1	OMIM:176270
HP:0009466	Radial deviation of finger	55764	IFT122	OMIM:218330
HP:0009466	Radial deviation of finger	7474	WNT5A	OMIM:180700
HP:0009466	Radial deviation of finger	1855	DVL1	OMIM:180700
HP:0009466	Radial deviation of finger	257	ALX3	OMIM:136760
HP:0009466	Radial deviation of finger	4089	SMAD4	OMIM:139210
HP:0009466	Radial deviation of finger	54903	MKS1	OMIM:249000
HP:0009466	Radial deviation of finger	29123	ANKRD11	OMIM:148050
HP:0009466	Radial deviation of finger	2261	FGFR3	OMIM:602849
HP:0009466	Radial deviation of finger	8481	OFD1	OMIM:311200
HP:0009466	Radial deviation of finger	25942	SIN3A	OMIM:613406
HP:0009466	Radial deviation of finger	9968	MED12	OMIM:305450
HP:0009466	Radial deviation of finger	9244	CRLF1	OMIM:272430
HP:0009466	Radial deviation of finger	10225	CD96	OMIM:211750
HP:0009466	Radial deviation of finger	3480	IGF1R	OMIM:270450
HP:0009466	Radial deviation of finger	5604	MAP2K1	OMIM:163950
HP:0009466	Radial deviation of finger	5781	PTPN11	OMIM:163950
HP:0009466	Radial deviation of finger	673	BRAF	OMIM:163950
HP:0009466	Radial deviation of finger	26227	PHGDH	OMIM:256520
HP:0009466	Radial deviation of finger	658	BMPR1B	OMIM:112600
HP:0009466	Radial deviation of finger	8200	GDF5	OMIM:112600
HP:0009466	Radial deviation of finger	650	BMP2	OMIM:112600
HP:0009466	Radial deviation of finger	23483	TGDS	ORPHA:1388
HP:0009466	Radial deviation of finger	2316	FLNA	OMIM:304120
HP:0009466	Radial deviation of finger	124583	CANT1	OMIM:251450
HP:0009468	Deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009468	Deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009468	Deviation of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009468	Deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009468	Deviation of the 2nd finger	51651	PTRH2	OMIM:616263
HP:0009468	Deviation of the 2nd finger	51651	PTRH2	ORPHA:456312
HP:0009468	Deviation of the 2nd finger	3209	HOXA13	OMIM:140000
HP:0009468	Deviation of the 2nd finger	29123	ANKRD11	OMIM:148050
HP:0009468	Deviation of the 2nd finger	23483	TGDS	OMIM:616145
HP:0009468	Deviation of the 2nd finger	3549	IHH	OMIM:112500
HP:0009468	Deviation of the 2nd finger	2316	FLNA	OMIM:304120
HP:0009468	Deviation of the 2nd finger	124583	CANT1	OMIM:251450
HP:0009468	Deviation of the 2nd finger	81857	MED25	ORPHA:464738
HP:0009468	Deviation of the 2nd finger	80207	OPA3	ORPHA:67036
HP:0009468	Deviation of the 2nd finger	10236	HNRNPR	OMIM:620073
HP:0009468	Deviation of the 2nd finger	9968	MED12	ORPHA:93932
HP:0009468	Deviation of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009468	Deviation of the 2nd finger	5293	PIK3CD	ORPHA:221139
HP:0009468	Deviation of the 2nd finger	90417	KNSTRN	ORPHA:221139
HP:0009468	Deviation of the 2nd finger	22856	CHSY1	ORPHA:363417
HP:0009468	Deviation of the 2nd finger	55790	CSGALNACT1	OMIM:618870
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	ORPHA:261537
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	ORPHA:261552
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	OMIM:235730
HP:0025100	Abnormal hippocampus morphology	23230	VPS13A	ORPHA:2388
HP:0025100	Abnormal hippocampus morphology	7025	NR2F1	ORPHA:401777
HP:0025100	Abnormal hippocampus morphology	10815	CPLX1	ORPHA:352582
HP:0025100	Abnormal hippocampus morphology	57465	TBC1D24	ORPHA:352582
HP:0025100	Abnormal hippocampus morphology	2902	GRIN1	ORPHA:208447
HP:0025100	Abnormal hippocampus morphology	23499	MACF1	ORPHA:572013
HP:0025100	Abnormal hippocampus morphology	387119	CEP85L	ORPHA:572013
HP:0025100	Abnormal hippocampus morphology	7846	TUBA1A	ORPHA:171680
HP:0025100	Abnormal hippocampus morphology	10381	TUBB3	ORPHA:300570
HP:0025100	Abnormal hippocampus morphology	5888	RAD51	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	10126	DNAL4	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	9423	NTN1	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	1630	DCC	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	56896	DPYSL5	OMIM:619435
HP:0025100	Abnormal hippocampus morphology	6335	SCN9A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6326	SCN2A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	2554	GABRA1	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6323	SCN1A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6324	SCN1B	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	57526	PCDH19	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	2566	GABRG2	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	23030	KDM4B	OMIM:619320
HP:0025100	Abnormal hippocampus morphology	4522	MTHFD1	OMIM:617780
HP:0025100	Abnormal hippocampus morphology	10617	STAMBP	OMIM:614261
HP:0025100	Abnormal hippocampus morphology	2009	EML1	OMIM:600348
HP:0025100	Abnormal hippocampus morphology	79587	CARS2	ORPHA:477774
HP:0025100	Abnormal hippocampus morphology	28962	OSTM1	ORPHA:85179
HP:0025100	Abnormal hippocampus morphology	1182	CLCN3	OMIM:619517
HP:0025100	Abnormal hippocampus morphology	478	ATP1A3	OMIM:619606
HP:0025100	Abnormal hippocampus morphology	738	VPS51	OMIM:618606
HP:0025100	Abnormal hippocampus morphology	7355	SLC35A2	ORPHA:356961
HP:0025100	Abnormal hippocampus morphology	54820	NDE1	ORPHA:2177
HP:0025100	Abnormal hippocampus morphology	6925	TCF4	OMIM:610954
HP:0025100	Abnormal hippocampus morphology	5457	POU4F1	ORPHA:314647
HP:0025100	Abnormal hippocampus morphology	6900	CNTN2	OMIM:615400
HP:0025100	Abnormal hippocampus morphology	11023	VAX1	OMIM:614402
HP:0025100	Abnormal hippocampus morphology	10695	CNPY3	OMIM:617929
HP:0025100	Abnormal hippocampus morphology	23261	CAMTA1	OMIM:614756
HP:0025100	Abnormal hippocampus morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0025100	Abnormal hippocampus morphology	2917	GRM7	OMIM:618922
HP:0025100	Abnormal hippocampus morphology	57094	CPA6	OMIM:614418
HP:0025100	Abnormal hippocampus morphology	29998	BICRA	OMIM:619325
HP:0025100	Abnormal hippocampus morphology	4750	NEK1	OMIM:617892
HP:0025100	Abnormal hippocampus morphology	10347	ABCA7	OMIM:608907
HP:0025101	Dysgenesis of the hippocampus	7846	TUBA1A	ORPHA:171680
HP:0025101	Dysgenesis of the hippocampus	10381	TUBB3	ORPHA:300570
HP:0025101	Dysgenesis of the hippocampus	23499	MACF1	OMIM:618325
HP:0025101	Dysgenesis of the hippocampus	5888	RAD51	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	10126	DNAL4	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	9423	NTN1	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	1630	DCC	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	56896	DPYSL5	OMIM:619435
HP:0025101	Dysgenesis of the hippocampus	6335	SCN9A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6326	SCN2A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	2554	GABRA1	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6323	SCN1A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6324	SCN1B	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	57526	PCDH19	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	2566	GABRG2	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	23030	KDM4B	OMIM:619320
HP:0025102	Dysgenesis of the basal ganglia	7846	TUBA1A	ORPHA:171680
HP:0025102	Dysgenesis of the basal ganglia	347733	TUBB2B	ORPHA:300573
HP:0025102	Dysgenesis of the basal ganglia	203068	TUBB	OMIM:615771
HP:0025102	Dysgenesis of the basal ganglia	10381	TUBB3	OMIM:600638
HP:0025104	Capillary malformation	4920	ROR2	OMIM:268310
HP:0025104	Capillary malformation	4920	ROR2	ORPHA:1507
HP:0025104	Capillary malformation	22827	PUF60	ORPHA:508498
HP:0025104	Capillary malformation	80267	EDEM3	OMIM:619493
HP:0025104	Capillary malformation	1028	CDKN1C	OMIM:130650
HP:0025104	Capillary malformation	10984	KCNQ1OT1	OMIM:130650
HP:0025104	Capillary malformation	3481	IGF2	OMIM:130650
HP:0025104	Capillary malformation	3481	IGF2	ORPHA:231140
HP:0025104	Capillary malformation	3784	KCNQ1	OMIM:130650
HP:0025104	Capillary malformation	91754	NEK9	ORPHA:64754
HP:0025104	Capillary malformation	6804	STX1A	ORPHA:904
HP:0025104	Capillary malformation	7461	CLIP2	ORPHA:904
HP:0025104	Capillary malformation	84277	DNAJC30	ORPHA:904
HP:0025104	Capillary malformation	8468	FKBP6	ORPHA:904
HP:0025104	Capillary malformation	5982	RFC2	ORPHA:904
HP:0025104	Capillary malformation	2969	GTF2I	ORPHA:904
HP:0025104	Capillary malformation	3984	LIMK1	ORPHA:904
HP:0025104	Capillary malformation	9569	GTF2IRD1	ORPHA:904
HP:0025104	Capillary malformation	155382	VPS37D	ORPHA:904
HP:0025104	Capillary malformation	155368	METTL27	ORPHA:904
HP:0025104	Capillary malformation	114049	BUD23	ORPHA:904
HP:0025104	Capillary malformation	7458	EIF4H	ORPHA:904
HP:0025104	Capillary malformation	84163	GTF2IRD2	ORPHA:904
HP:0025104	Capillary malformation	9275	BCL7B	ORPHA:904
HP:0025104	Capillary malformation	26608	TBL2	ORPHA:904
HP:0025104	Capillary malformation	653361	NCF1	ORPHA:904
HP:0025104	Capillary malformation	135886	TMEM270	ORPHA:904
HP:0025104	Capillary malformation	51085	MLXIPL	ORPHA:904
HP:0025104	Capillary malformation	9031	BAZ1B	ORPHA:904
HP:0025104	Capillary malformation	2006	ELN	ORPHA:904
HP:0025104	Capillary malformation	2260	FGFR1	ORPHA:2396
HP:0025104	Capillary malformation	3845	KRAS	ORPHA:2396
HP:0025104	Capillary malformation	64359	NXN	ORPHA:1507
HP:0025104	Capillary malformation	2776	GNAQ	OMIM:163000
HP:0025104	Capillary malformation	2776	GNAQ	ORPHA:624
HP:0025104	Capillary malformation	7474	WNT5A	OMIM:180700
HP:0025104	Capillary malformation	1855	DVL1	OMIM:180700
HP:0025104	Capillary malformation	283120	H19	ORPHA:231140
HP:0025104	Capillary malformation	171023	ASXL1	ORPHA:97297
HP:0025104	Capillary malformation	171023	ASXL1	OMIM:605039
HP:0025104	Capillary malformation	1836	SLC26A2	OMIM:222600
HP:0025104	Capillary malformation	7043	TGFB3	OMIM:615582
HP:0025104	Capillary malformation	26040	SETBP1	OMIM:616078
HP:0025104	Capillary malformation	4591	TRIM37	OMIM:253250
HP:0025104	Capillary malformation	1545	CYP1B1	ORPHA:98976
HP:0025104	Capillary malformation	4053	LTBP2	ORPHA:98976
HP:0025104	Capillary malformation	4653	MYOC	ORPHA:98976
HP:0025104	Capillary malformation	7010	TEK	ORPHA:98976
HP:0025104	Capillary malformation	9126	SMC3	OMIM:610759
HP:0025104	Capillary malformation	81857	MED25	ORPHA:464738
HP:0025104	Capillary malformation	81857	MED25	OMIM:616449
HP:0025104	Capillary malformation	3930	LBR	OMIM:618019
HP:0025104	Capillary malformation	118924	FRA10AC1	OMIM:620113
HP:0025104	Capillary malformation	9939	RBM8A	ORPHA:3320
HP:0025104	Capillary malformation	9939	RBM8A	OMIM:274000
HP:0025104	Capillary malformation	5354	PLP1	ORPHA:280229
HP:0025104	Capillary malformation	8621	CDK13	OMIM:617360
HP:0025104	Capillary malformation	8558	CDK10	OMIM:617694
HP:0025104	Capillary malformation	1857	DVL3	ORPHA:3107
HP:0025104	Capillary malformation	2535	FZD2	ORPHA:3107
HP:0025104	Capillary malformation	129563	DIS3L2	ORPHA:2849
HP:0025104	Capillary malformation	55252	ASXL2	OMIM:617190
HP:0025104	Capillary malformation	5290	PIK3CA	OMIM:612918
HP:0025104	Capillary malformation	2475	MTOR	ORPHA:457485
HP:0025104	Capillary malformation	2050	EPHB4	ORPHA:137667
HP:0025104	Capillary malformation	2050	EPHB4	OMIM:618196
HP:0025104	Capillary malformation	5921	RASA1	ORPHA:137667
HP:0025104	Capillary malformation	5921	RASA1	ORPHA:90307
HP:0025104	Capillary malformation	5921	RASA1	OMIM:608354
HP:0025104	Capillary malformation	440275	EIF2AK4	ORPHA:199241
HP:0025104	Capillary malformation	10617	STAMBP	OMIM:614261
HP:0025104	Capillary malformation	8260	NAA10	ORPHA:276432
HP:0025104	Capillary malformation	8260	NAA10	OMIM:300855
HP:0025104	Capillary malformation	4763	NF1	ORPHA:97685
HP:0025104	Capillary malformation	4851	NOTCH1	OMIM:616028
HP:0025105	Nevus anemicus	4763	NF1	ORPHA:97685
HP:0025107	Cutis marmorata telangiectatica congenita	4851	NOTCH1	OMIM:616028
HP:0025109	Reduced red cell pyruvate kinase level	5313	PKLR	OMIM:266200
HP:0025109	Reduced red cell pyruvate kinase level	5313	PKLR	ORPHA:766
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1836	SLC26A2	ORPHA:93307
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	81857	MED25	ORPHA:464738
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8243	SMC1A	OMIM:301044
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1277	COL1A1	OMIM:130060
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	6909	TBX2	OMIM:618223
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	23327	NEDD4L	OMIM:617201
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8985	PLOD3	OMIM:612394
HP:0009477	Proximal/middle symphalangism of 4th finger	9241	NOG	OMIM:186500
HP:0025112	Auditory sensitivity	56947	MFF	ORPHA:485421
HP:0025112	Auditory sensitivity	26053	AUTS2	OMIM:615834
HP:0025112	Auditory sensitivity	26053	AUTS2	ORPHA:352490
HP:0025114	Hypergranulosis	242	ALOX12B	OMIM:242100
HP:0025114	Hypergranulosis	59344	ALOXE3	OMIM:242100
HP:0025114	Hypergranulosis	4014	LORICRIN	OMIM:604117
HP:0025114	Hypergranulosis	4014	LORICRIN	ORPHA:79395
HP:0025114	Hypergranulosis	204219	CERS3	OMIM:615023
HP:0025114	Hypergranulosis	285848	PNPLA1	OMIM:615024
HP:0025114	Hypergranulosis	2707	GJB3	OMIM:133200
HP:0025114	Hypergranulosis	121214	SDR9C7	OMIM:617574
HP:0025114	Hypergranulosis	2697	GJA1	OMIM:617525
HP:0025114	Hypergranulosis	5167	ENPP1	OMIM:615522
HP:0025114	Hypergranulosis	56983	POGLUT1	OMIM:615696
HP:0025114	Hypergranulosis	79092	CARD14	OMIM:173200
HP:0025114	Hypergranulosis	8710	SERPINB7	OMIM:615598
HP:0025114	Hypergranulosis	3868	KRT16	ORPHA:2199
HP:0025114	Hypergranulosis	3857	KRT9	ORPHA:2199
HP:0025114	Hypergranulosis	3848	KRT1	ORPHA:2199
HP:0025114	Hypergranulosis	488	ATP2A2	ORPHA:79151
HP:0025114	Hypergranulosis	643418	LIPN	OMIM:613943
HP:0025114	Hypergranulosis	1828	DSG1	OMIM:615508
HP:0025114	Hypergranulosis	1828	DSG1	OMIM:148700
HP:0025114	Hypergranulosis	80326	WNT10A	OMIM:257980
HP:0025114	Hypergranulosis	79719	AAGAB	OMIM:148600
HP:0025114	Hypergranulosis	79719	AAGAB	ORPHA:79501
HP:0025114	Hypergranulosis	7373	COL14A1	ORPHA:79501
HP:0025115	Civatte bodies	64131	XYLT1	OMIM:264800
HP:0025115	Civatte bodies	64132	XYLT2	OMIM:264800
HP:0025115	Civatte bodies	368	ABCC6	OMIM:264800
HP:0025116	Fetal distress	699	BUB1	OMIM:620183
HP:0025116	Fetal distress	10128	LRPPRC	OMIM:220111
HP:0025116	Fetal distress	11212	PLPBP	OMIM:617290
HP:0025116	Fetal distress	11212	PLPBP	ORPHA:3006
HP:0025116	Fetal distress	54539	NDUFB11	ORPHA:2609
HP:0025116	Fetal distress	25915	NDUFAF3	ORPHA:2609
HP:0025116	Fetal distress	51103	NDUFAF1	ORPHA:2609
HP:0025116	Fetal distress	91942	NDUFAF2	ORPHA:2609
HP:0025116	Fetal distress	51300	TIMMDC1	ORPHA:2609
HP:0025116	Fetal distress	4716	NDUFB10	ORPHA:2609
HP:0025116	Fetal distress	4723	NDUFV1	ORPHA:2609
HP:0025116	Fetal distress	55572	FOXRED1	ORPHA:2609
HP:0025116	Fetal distress	284184	NDUFAF8	ORPHA:2609
HP:0025116	Fetal distress	55863	TMEM126B	ORPHA:2609
HP:0025116	Fetal distress	4535	MT-ND1	ORPHA:2609
HP:0025116	Fetal distress	4537	MT-ND3	ORPHA:2609
HP:0025116	Fetal distress	4729	NDUFV2	ORPHA:2609
HP:0025116	Fetal distress	4694	NDUFA1	ORPHA:2609
HP:0025116	Fetal distress	4720	NDUFS2	ORPHA:2609
HP:0025116	Fetal distress	4724	NDUFS4	ORPHA:2609
HP:0025116	Fetal distress	4726	NDUFS6	ORPHA:2609
HP:0025116	Fetal distress	4728	NDUFS8	ORPHA:2609
HP:0025116	Fetal distress	4722	NDUFS3	ORPHA:2609
HP:0025116	Fetal distress	79133	NDUFAF5	ORPHA:2609
HP:0025116	Fetal distress	126328	NDUFA11	ORPHA:2609
HP:0025116	Fetal distress	4709	NDUFB3	ORPHA:2609
HP:0025116	Fetal distress	80224	NUBPL	ORPHA:2609
HP:0025116	Fetal distress	29078	NDUFAF4	ORPHA:2609
HP:0025116	Fetal distress	374291	NDUFS7	ORPHA:2609
HP:0025116	Fetal distress	4700	NDUFA6	ORPHA:2609
HP:0025116	Fetal distress	4536	MT-ND2	ORPHA:2609
HP:0025116	Fetal distress	4719	NDUFS1	ORPHA:2609
HP:0025116	Fetal distress	4715	NDUFB9	ORPHA:2609
HP:0025116	Fetal distress	23013	SPEN	OMIM:619312
HP:0025116	Fetal distress	10664	CTCF	ORPHA:363611
HP:0025116	Fetal distress	79989	IFT56	OMIM:619534
HP:0025116	Fetal distress	2334	AFF2	OMIM:309548
HP:0025116	Fetal distress	10526	IPO8	OMIM:619472
HP:0025116	Fetal distress	6651	SON	ORPHA:500150
HP:0025116	Fetal distress	5167	ENPP1	ORPHA:51608
HP:0025116	Fetal distress	5167	ENPP1	OMIM:208000
HP:0025116	Fetal distress	368	ABCC6	ORPHA:51608
HP:0025116	Fetal distress	28962	OSTM1	ORPHA:85179
HP:0025116	Fetal distress	5393	EXOSC9	OMIM:618065
HP:0025116	Fetal distress	4000	LMNA	OMIM:619793
HP:0025116	Fetal distress	4705	NDUFA10	OMIM:618243
HP:0025116	Fetal distress	11274	USP18	OMIM:617397
HP:0025116	Fetal distress	6135	RPL11	OMIM:612562
HP:0025116	Fetal distress	816	CAMK2B	OMIM:617799
HP:0025116	Fetal distress	5828	PEX2	OMIM:614866
HP:0025116	Fetal distress	1788	DNMT3A	OMIM:615879
HP:0025116	Fetal distress	9570	GOSR2	OMIM:620166
HP:0025116	Fetal distress	501	ALDH7A1	ORPHA:3006
HP:0025116	Fetal distress	501	ALDH7A1	OMIM:266100
HP:0025116	Fetal distress	5205	ATP8B1	OMIM:147480
HP:0025116	Fetal distress	6536	SLC6A9	OMIM:617301
HP:0025116	Fetal distress	5277	PIGA	OMIM:300868
HP:0025116	Fetal distress	284361	EMC10	OMIM:619264
HP:0025116	Fetal distress	5244	ABCB4	OMIM:614972
HP:0025116	Fetal distress	56479	KCNQ5	OMIM:617601
HP:0025116	Fetal distress	10320	IKZF1	OMIM:616873
HP:0025116	Fetal distress	3557	IL1RN	OMIM:612852
HP:0025116	Fetal distress	55210	ATAD3A	OMIM:618810
HP:0025116	Fetal distress	6513	SLC2A1	OMIM:608885
HP:0025116	Fetal distress	5826	ABCD4	OMIM:614857
HP:0025116	Fetal distress	8905	AP1S2	OMIM:304340
HP:0025118	Lip discoloration	1528	CYB5A	ORPHA:621
HP:0025118	Lip discoloration	1727	CYB5R3	ORPHA:621
HP:0009484	Deviation of the hand or of fingers of the hand	7169	TPM2	OMIM:108120
HP:0009484	Deviation of the hand or of fingers of the hand	9935	MAFB	OMIM:166300
HP:0009484	Deviation of the hand or of fingers of the hand	4621	MYH3	OMIM:193700
HP:0009484	Deviation of the hand or of fingers of the hand	4593	MUSK	OMIM:208150
HP:0009484	Deviation of the hand or of fingers of the hand	7136	TNNI2	OMIM:601680
HP:0009484	Deviation of the hand or of fingers of the hand	63895	PIEZO2	OMIM:114300
HP:0009484	Deviation of the hand or of fingers of the hand	5189	PEX1	OMIM:214100
HP:0009484	Deviation of the hand or of fingers of the hand	1836	SLC26A2	ORPHA:56304
HP:0009484	Deviation of the hand or of fingers of the hand	1836	SLC26A2	OMIM:256050
HP:0009484	Deviation of the hand or of fingers of the hand	1836	SLC26A2	OMIM:222600
HP:0009484	Deviation of the hand or of fingers of the hand	79796	ALG9	ORPHA:79328
HP:0009484	Deviation of the hand or of fingers of the hand	22858	CILK1	OMIM:612651
HP:0009484	Deviation of the hand or of fingers of the hand	1954	MEGF8	OMIM:614976
HP:0009484	Deviation of the hand or of fingers of the hand	2317	FLNB	OMIM:108721
HP:0009484	Deviation of the hand or of fingers of the hand	23019	CNOT1	OMIM:618500
HP:0009484	Deviation of the hand or of fingers of the hand	22856	CHSY1	OMIM:605282
HP:0009484	Deviation of the hand or of fingers of the hand	54928	BPNT2	OMIM:614078
HP:0009484	Deviation of the hand or of fingers of the hand	54809	SAMD9	OMIM:617053
HP:0009484	Deviation of the hand or of fingers of the hand	2737	GLI3	ORPHA:93322
HP:0009484	Deviation of the hand or of fingers of the hand	8517	IKBKG	ORPHA:464
HP:0009484	Deviation of the hand or of fingers of the hand	50964	SOST	OMIM:269500
HP:0009484	Deviation of the hand or of fingers of the hand	51715	RAB23	OMIM:201000
HP:0009484	Deviation of the hand or of fingers of the hand	3248	HPGD	ORPHA:1525
HP:0009484	Deviation of the hand or of fingers of the hand	11253	MAN1B1	ORPHA:397941
HP:0009484	Deviation of the hand or of fingers of the hand	11253	MAN1B1	OMIM:614202
HP:0009484	Deviation of the hand or of fingers of the hand	340533	NEXMIF	OMIM:300912
HP:0009484	Deviation of the hand or of fingers of the hand	1139	CHRNA7	ORPHA:199318
HP:0009484	Deviation of the hand or of fingers of the hand	1139	CHRNA7	OMIM:612001
HP:0009484	Deviation of the hand or of fingers of the hand	2132	EXT2	OMIM:616682
HP:0009484	Deviation of the hand or of fingers of the hand	23135	KDM6B	OMIM:618505
HP:0009484	Deviation of the hand or of fingers of the hand	6659	SOX4	OMIM:618506
HP:0009484	Deviation of the hand or of fingers of the hand	1947	EFNB1	ORPHA:1520
HP:0009484	Deviation of the hand or of fingers of the hand	1947	EFNB1	OMIM:304110
HP:0009484	Deviation of the hand or of fingers of the hand	4010	LMX1B	ORPHA:2614
HP:0009484	Deviation of the hand or of fingers of the hand	4010	LMX1B	OMIM:161200
HP:0009484	Deviation of the hand or of fingers of the hand	10054	UBA2	OMIM:619959
HP:0009484	Deviation of the hand or of fingers of the hand	51126	NAA20	OMIM:619717
HP:0009484	Deviation of the hand or of fingers of the hand	2972	BRF1	OMIM:616202
HP:0009484	Deviation of the hand or of fingers of the hand	9820	CUL7	ORPHA:2616
HP:0009484	Deviation of the hand or of fingers of the hand	9820	CUL7	OMIM:273750
HP:0009484	Deviation of the hand or of fingers of the hand	23363	OBSL1	ORPHA:2616
HP:0009484	Deviation of the hand or of fingers of the hand	83987	CCDC8	ORPHA:2616
HP:0009484	Deviation of the hand or of fingers of the hand	83987	CCDC8	OMIM:614205
HP:0009484	Deviation of the hand or of fingers of the hand	7021	TFAP2B	OMIM:169100
HP:0009484	Deviation of the hand or of fingers of the hand	7021	TFAP2B	ORPHA:46627
HP:0009484	Deviation of the hand or of fingers of the hand	7021	TFAP2B	OMIM:617035
HP:0009484	Deviation of the hand or of fingers of the hand	3481	IGF2	ORPHA:231140
HP:0009484	Deviation of the hand or of fingers of the hand	3481	IGF2	ORPHA:231144
HP:0009484	Deviation of the hand or of fingers of the hand	3481	IGF2	OMIM:616489
HP:0009484	Deviation of the hand or of fingers of the hand	3481	IGF2	OMIM:180860
HP:0009484	Deviation of the hand or of fingers of the hand	3481	IGF2	ORPHA:397590
HP:0009484	Deviation of the hand or of fingers of the hand	283120	H19	ORPHA:231140
HP:0009484	Deviation of the hand or of fingers of the hand	283120	H19	ORPHA:231144
HP:0009484	Deviation of the hand or of fingers of the hand	197131	UBR1	OMIM:243800
HP:0009484	Deviation of the hand or of fingers of the hand	5932	RBBP8	OMIM:606744
HP:0009484	Deviation of the hand or of fingers of the hand	5932	RBBP8	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	3021	H3-3B	OMIM:619721
HP:0009484	Deviation of the hand or of fingers of the hand	4286	MITF	OMIM:617306
HP:0009484	Deviation of the hand or of fingers of the hand	23384	SPECC1L	ORPHA:1519
HP:0009484	Deviation of the hand or of fingers of the hand	57539	WDR35	ORPHA:1515
HP:0009484	Deviation of the hand or of fingers of the hand	112752	IFT43	ORPHA:1515
HP:0009484	Deviation of the hand or of fingers of the hand	51098	IFT52	ORPHA:1515
HP:0009484	Deviation of the hand or of fingers of the hand	57728	WDR19	ORPHA:1515
HP:0009484	Deviation of the hand or of fingers of the hand	55636	CHD7	ORPHA:138
HP:0009484	Deviation of the hand or of fingers of the hand	9723	SEMA3E	ORPHA:138
HP:0009484	Deviation of the hand or of fingers of the hand	90	ACVR1	OMIM:135100
HP:0009484	Deviation of the hand or of fingers of the hand	90	ACVR1	ORPHA:337
HP:0009484	Deviation of the hand or of fingers of the hand	3190	HNRNPK	OMIM:616580
HP:0009484	Deviation of the hand or of fingers of the hand	10606	PAICS	OMIM:619859
HP:0009484	Deviation of the hand or of fingers of the hand	1009	CDH11	OMIM:619736
HP:0009484	Deviation of the hand or of fingers of the hand	64359	NXN	ORPHA:1507
HP:0009484	Deviation of the hand or of fingers of the hand	727857	BHLHA9	ORPHA:157801
HP:0009484	Deviation of the hand or of fingers of the hand	727857	BHLHA9	OMIM:609432
HP:0009484	Deviation of the hand or of fingers of the hand	4297	KMT2A	ORPHA:319182
HP:0009484	Deviation of the hand or of fingers of the hand	4297	KMT2A	OMIM:605130
HP:0009484	Deviation of the hand or of fingers of the hand	23327	NEDD4L	OMIM:617201
HP:0009484	Deviation of the hand or of fingers of the hand	7291	TWIST1	OMIM:101400
HP:0009484	Deviation of the hand or of fingers of the hand	7291	TWIST1	ORPHA:794
HP:0009484	Deviation of the hand or of fingers of the hand	2783	GNB2	OMIM:619503
HP:0009484	Deviation of the hand or of fingers of the hand	3981	LIG4	ORPHA:235
HP:0009484	Deviation of the hand or of fingers of the hand	3981	LIG4	ORPHA:99812
HP:0009484	Deviation of the hand or of fingers of the hand	3981	LIG4	OMIM:606593
HP:0009484	Deviation of the hand or of fingers of the hand	54888	NSUN2	ORPHA:235
HP:0009484	Deviation of the hand or of fingers of the hand	1182	CLCN3	OMIM:619512
HP:0009484	Deviation of the hand or of fingers of the hand	85301	COL27A1	OMIM:615155
HP:0009484	Deviation of the hand or of fingers of the hand	5048	PAFAH1B1	ORPHA:217385
HP:0009484	Deviation of the hand or of fingers of the hand	5048	PAFAH1B1	ORPHA:531
HP:0009484	Deviation of the hand or of fingers of the hand	7531	YWHAE	ORPHA:217385
HP:0009484	Deviation of the hand or of fingers of the hand	7531	YWHAE	ORPHA:531
HP:0009484	Deviation of the hand or of fingers of the hand	8364	H4C3	OMIM:619758
HP:0009484	Deviation of the hand or of fingers of the hand	5590	PRKCZ	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	2563	GABRD	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	23013	SPEN	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	8510	MMP23B	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	7798	LUZP1	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	6497	SKI	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	10630	PDPN	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	3339	HSPG2	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	10277	UBE4B	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	8514	KCNAB2	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	473	RERE	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	473	RERE	OMIM:616975
HP:0009484	Deviation of the hand or of fingers of the hand	63976	PRDM16	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	54897	CASZ1	ORPHA:1606
HP:0009484	Deviation of the hand or of fingers of the hand	6134	RPL10	ORPHA:459070
HP:0009484	Deviation of the hand or of fingers of the hand	6134	RPL10	OMIM:300998
HP:0009484	Deviation of the hand or of fingers of the hand	7750	ZMYM2	OMIM:619522
HP:0009484	Deviation of the hand or of fingers of the hand	4849	CNOT3	OMIM:618672
HP:0009484	Deviation of the hand or of fingers of the hand	6942	TCF20	OMIM:618430
HP:0009484	Deviation of the hand or of fingers of the hand	641	BLM	OMIM:210900
HP:0009484	Deviation of the hand or of fingers of the hand	57492	ARID1B	ORPHA:251056
HP:0009484	Deviation of the hand or of fingers of the hand	57492	ARID1B	OMIM:135900
HP:0009484	Deviation of the hand or of fingers of the hand	23314	SATB2	ORPHA:576283
HP:0009484	Deviation of the hand or of fingers of the hand	23314	SATB2	ORPHA:251028
HP:0009484	Deviation of the hand or of fingers of the hand	23314	SATB2	ORPHA:251019
HP:0009484	Deviation of the hand or of fingers of the hand	2239	GPC4	ORPHA:373
HP:0009484	Deviation of the hand or of fingers of the hand	2239	GPC4	ORPHA:2662
HP:0009484	Deviation of the hand or of fingers of the hand	2719	GPC3	ORPHA:373
HP:0009484	Deviation of the hand or of fingers of the hand	23162	MAPK8IP3	OMIM:618443
HP:0009484	Deviation of the hand or of fingers of the hand	57479	PRR12	OMIM:619539
HP:0009484	Deviation of the hand or of fingers of the hand	1387	CREBBP	OMIM:618332
HP:0009484	Deviation of the hand or of fingers of the hand	1387	CREBBP	OMIM:180849
HP:0009484	Deviation of the hand or of fingers of the hand	26100	WIPI2	OMIM:618453
HP:0009484	Deviation of the hand or of fingers of the hand	10533	ATG7	OMIM:619422
HP:0009484	Deviation of the hand or of fingers of the hand	8295	TRRAP	OMIM:618454
HP:0009484	Deviation of the hand or of fingers of the hand	7227	TRPS1	ORPHA:77258
HP:0009484	Deviation of the hand or of fingers of the hand	9949	AMMECR1	OMIM:300990
HP:0009484	Deviation of the hand or of fingers of the hand	3479	IGF1	ORPHA:73272
HP:0009484	Deviation of the hand or of fingers of the hand	3479	IGF1	OMIM:608747
HP:0009484	Deviation of the hand or of fingers of the hand	6477	SIAH1	OMIM:619314
HP:0009484	Deviation of the hand or of fingers of the hand	8473	OGT	OMIM:300997
HP:0009484	Deviation of the hand or of fingers of the hand	10785	WDR4	OMIM:618347
HP:0009484	Deviation of the hand or of fingers of the hand	1798	DPAGT1	OMIM:608093
HP:0009484	Deviation of the hand or of fingers of the hand	100151683	RNU4ATAC	ORPHA:353298
HP:0009484	Deviation of the hand or of fingers of the hand	100151683	RNU4ATAC	OMIM:226960
HP:0009484	Deviation of the hand or of fingers of the hand	100151683	RNU4ATAC	OMIM:616651
HP:0009484	Deviation of the hand or of fingers of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0009484	Deviation of the hand or of fingers of the hand	117581	TWIST2	OMIM:200110
HP:0009484	Deviation of the hand or of fingers of the hand	117581	TWIST2	OMIM:209885
HP:0009484	Deviation of the hand or of fingers of the hand	23030	KDM4B	OMIM:619320
HP:0009484	Deviation of the hand or of fingers of the hand	1725	DHPS	OMIM:618480
HP:0009484	Deviation of the hand or of fingers of the hand	55777	MBD5	OMIM:156200
HP:0009484	Deviation of the hand or of fingers of the hand	55777	MBD5	ORPHA:228402
HP:0009484	Deviation of the hand or of fingers of the hand	5980	REV3L	ORPHA:570
HP:0009484	Deviation of the hand or of fingers of the hand	23129	PLXND1	ORPHA:570
HP:0009484	Deviation of the hand or of fingers of the hand	4784	NFIX	OMIM:602535
HP:0009484	Deviation of the hand or of fingers of the hand	4998	ORC1	OMIM:224690
HP:0009484	Deviation of the hand or of fingers of the hand	4998	ORC1	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	4052	LTBP1	OMIM:619451
HP:0009484	Deviation of the hand or of fingers of the hand	7468	NSD2	OMIM:619695
HP:0009484	Deviation of the hand or of fingers of the hand	9496	TBX4	ORPHA:261279
HP:0009484	Deviation of the hand or of fingers of the hand	8091	HMGA2	ORPHA:94063
HP:0009484	Deviation of the hand or of fingers of the hand	8091	HMGA2	ORPHA:397590
HP:0009484	Deviation of the hand or of fingers of the hand	23592	LEMD3	ORPHA:94063
HP:0009484	Deviation of the hand or of fingers of the hand	164	AP1G1	OMIM:619467
HP:0009484	Deviation of the hand or of fingers of the hand	5283	PIGH	OMIM:618010
HP:0009484	Deviation of the hand or of fingers of the hand	50801	KCNK4	OMIM:618381
HP:0009484	Deviation of the hand or of fingers of the hand	9757	KMT2B	ORPHA:589618
HP:0009484	Deviation of the hand or of fingers of the hand	4613	MYCN	ORPHA:391641
HP:0009484	Deviation of the hand or of fingers of the hand	57003	CCDC47	OMIM:618268
HP:0009484	Deviation of the hand or of fingers of the hand	8812	CCNK	OMIM:618147
HP:0009484	Deviation of the hand or of fingers of the hand	5977	DPF2	OMIM:618027
HP:0009484	Deviation of the hand or of fingers of the hand	29895	MYL11	OMIM:619110
HP:0009484	Deviation of the hand or of fingers of the hand	94005	PIGS	OMIM:618143
HP:0009484	Deviation of the hand or of fingers of the hand	2033	EP300	OMIM:180849
HP:0009484	Deviation of the hand or of fingers of the hand	92002	CCNQ	OMIM:300707
HP:0009484	Deviation of the hand or of fingers of the hand	92002	CCNQ	ORPHA:140952
HP:0009484	Deviation of the hand or of fingers of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0009484	Deviation of the hand or of fingers of the hand	80036	TRPM3	OMIM:620224
HP:0009484	Deviation of the hand or of fingers of the hand	526	ATP6V1B2	ORPHA:79500
HP:0009484	Deviation of the hand or of fingers of the hand	57465	TBC1D24	ORPHA:79500
HP:0009484	Deviation of the hand or of fingers of the hand	57465	TBC1D24	OMIM:220500
HP:0009484	Deviation of the hand or of fingers of the hand	5728	PTEN	ORPHA:744
HP:0009484	Deviation of the hand or of fingers of the hand	207	AKT1	ORPHA:744
HP:0009484	Deviation of the hand or of fingers of the hand	2887	GRB10	ORPHA:96182
HP:0009484	Deviation of the hand or of fingers of the hand	1457	CSNK2A1	OMIM:617062
HP:0009484	Deviation of the hand or of fingers of the hand	7204	TRIO	OMIM:617061
HP:0009484	Deviation of the hand or of fingers of the hand	7204	TRIO	ORPHA:476126
HP:0009484	Deviation of the hand or of fingers of the hand	28952	CCDC22	OMIM:300963
HP:0009484	Deviation of the hand or of fingers of the hand	90416	CCDC32	OMIM:619123
HP:0009484	Deviation of the hand or of fingers of the hand	8450	CUL4B	ORPHA:85293
HP:0009484	Deviation of the hand or of fingers of the hand	55717	WDR11	OMIM:620237
HP:0009484	Deviation of the hand or of fingers of the hand	22995	CEP152	OMIM:613823
HP:0009484	Deviation of the hand or of fingers of the hand	22995	CEP152	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	3090	HIC1	ORPHA:531
HP:0009484	Deviation of the hand or of fingers of the hand	10436	EMG1	OMIM:211180
HP:0009484	Deviation of the hand or of fingers of the hand	10436	EMG1	ORPHA:1270
HP:0009484	Deviation of the hand or of fingers of the hand	23387	SIK3	OMIM:618162
HP:0009484	Deviation of the hand or of fingers of the hand	10084	PQBP1	OMIM:309500
HP:0009484	Deviation of the hand or of fingers of the hand	5745	PTH1R	OMIM:156400
HP:0009484	Deviation of the hand or of fingers of the hand	89970	RSPRY1	ORPHA:457395
HP:0009484	Deviation of the hand or of fingers of the hand	9487	PIGL	OMIM:280000
HP:0009484	Deviation of the hand or of fingers of the hand	867	CBL	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	8216	LZTR1	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	6016	RIT1	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	6237	RRAS	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	5894	RAF1	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	22808	MRAS	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	3845	KRAS	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	200734	SPRED2	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	4893	NRAS	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	6654	SOS1	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	6655	SOS2	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	5922	RASA2	ORPHA:648
HP:0009484	Deviation of the hand or of fingers of the hand	23522	KAT6B	ORPHA:3047
HP:0009484	Deviation of the hand or of fingers of the hand	6913	TBX15	OMIM:260660
HP:0009484	Deviation of the hand or of fingers of the hand	79023	NUP37	OMIM:618179
HP:0009484	Deviation of the hand or of fingers of the hand	375056	MIA3	OMIM:619269
HP:0009484	Deviation of the hand or of fingers of the hand	27161	AGO2	OMIM:619149
HP:0009484	Deviation of the hand or of fingers of the hand	5567	PRKACB	OMIM:619143
HP:0009484	Deviation of the hand or of fingers of the hand	221927	BRAT1	OMIM:618056
HP:0009484	Deviation of the hand or of fingers of the hand	8823	FGF16	OMIM:309630
HP:0009484	Deviation of the hand or of fingers of the hand	161742	SPRED1	ORPHA:137605
HP:0009484	Deviation of the hand or of fingers of the hand	7337	UBE3A	ORPHA:238446
HP:0009484	Deviation of the hand or of fingers of the hand	1832	DSP	ORPHA:158687
HP:0009484	Deviation of the hand or of fingers of the hand	1832	DSP	OMIM:609638
HP:0009484	Deviation of the hand or of fingers of the hand	3728	JUP	ORPHA:158687
HP:0009484	Deviation of the hand or of fingers of the hand	23241	PACS2	OMIM:618067
HP:0009484	Deviation of the hand or of fingers of the hand	26128	KIFBP	OMIM:609460
HP:0009484	Deviation of the hand or of fingers of the hand	23556	PIGN	ORPHA:2059
HP:0009484	Deviation of the hand or of fingers of the hand	7518	XRCC4	ORPHA:99812
HP:0009484	Deviation of the hand or of fingers of the hand	8854	ALDH1A2	OMIM:620025
HP:0009484	Deviation of the hand or of fingers of the hand	10274	STAG1	ORPHA:502434
HP:0009484	Deviation of the hand or of fingers of the hand	89910	UBE3B	OMIM:244450
HP:0009484	Deviation of the hand or of fingers of the hand	2314	FLII	ORPHA:819
HP:0009484	Deviation of the hand or of fingers of the hand	23096	IQSEC2	ORPHA:819
HP:0009484	Deviation of the hand or of fingers of the hand	10743	RAI1	ORPHA:819
HP:0009484	Deviation of the hand or of fingers of the hand	10522	DEAF1	ORPHA:819
HP:0009484	Deviation of the hand or of fingers of the hand	6595	SMARCA2	OMIM:619293
HP:0009484	Deviation of the hand or of fingers of the hand	10459	MAD2L2	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	7516	XRCC2	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	29089	UBE2T	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	675	BRCA2	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	55120	FANCL	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2177	FANCD2	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2175	FANCA	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2176	FANCC	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2178	FANCE	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2188	FANCF	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2189	FANCG	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	5888	RAD51	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	55159	RFWD3	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	83990	BRIP1	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	57697	FANCM	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	79728	PALB2	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	84464	SLX4	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	2072	ERCC4	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	55215	FANCI	ORPHA:84
HP:0009484	Deviation of the hand or of fingers of the hand	84823	LMNB2	OMIM:619180
HP:0009484	Deviation of the hand or of fingers of the hand	9184	BUB3	ORPHA:1052
HP:0009484	Deviation of the hand or of fingers of the hand	699	BUB1	ORPHA:1052
HP:0009484	Deviation of the hand or of fingers of the hand	699	BUB1	OMIM:620183
HP:0009484	Deviation of the hand or of fingers of the hand	9702	CEP57	ORPHA:1052
HP:0009484	Deviation of the hand or of fingers of the hand	9702	CEP57	OMIM:614114
HP:0009484	Deviation of the hand or of fingers of the hand	9319	TRIP13	ORPHA:1052
HP:0009484	Deviation of the hand or of fingers of the hand	701	BUB1B	ORPHA:1052
HP:0009484	Deviation of the hand or of fingers of the hand	54476	RNF216	ORPHA:1173
HP:0009484	Deviation of the hand or of fingers of the hand	10908	PNPLA6	ORPHA:1173
HP:0009484	Deviation of the hand or of fingers of the hand	23036	ZNF292	OMIM:619188
HP:0009484	Deviation of the hand or of fingers of the hand	51199	NIN	OMIM:614851
HP:0009484	Deviation of the hand or of fingers of the hand	51199	NIN	ORPHA:319675
HP:0009484	Deviation of the hand or of fingers of the hand	4953	ODC1	OMIM:619075
HP:0009484	Deviation of the hand or of fingers of the hand	4953	ODC1	ORPHA:544488
HP:0009484	Deviation of the hand or of fingers of the hand	1857	DVL3	ORPHA:3107
HP:0009484	Deviation of the hand or of fingers of the hand	2535	FZD2	ORPHA:3107
HP:0009484	Deviation of the hand or of fingers of the hand	2535	FZD2	OMIM:164745
HP:0009484	Deviation of the hand or of fingers of the hand	26053	AUTS2	OMIM:615834
HP:0009484	Deviation of the hand or of fingers of the hand	6804	STX1A	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	7461	CLIP2	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	84277	DNAJC30	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	8468	FKBP6	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	5982	RFC2	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	2969	GTF2I	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	3984	LIMK1	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	9569	GTF2IRD1	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	155382	VPS37D	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	155368	METTL27	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	114049	BUD23	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	7458	EIF4H	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	84163	GTF2IRD2	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	9275	BCL7B	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	26608	TBL2	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	653361	NCF1	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	135886	TMEM270	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	51085	MLXIPL	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	51085	MLXIPL	OMIM:194050
HP:0009484	Deviation of the hand or of fingers of the hand	9031	BAZ1B	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	2006	ELN	ORPHA:904
HP:0009484	Deviation of the hand or of fingers of the hand	2006	ELN	OMIM:194050
HP:0009484	Deviation of the hand or of fingers of the hand	3207	HOXA11	ORPHA:71289
HP:0009484	Deviation of the hand or of fingers of the hand	3207	HOXA11	OMIM:605432
HP:0009484	Deviation of the hand or of fingers of the hand	81031	SLC2A10	ORPHA:3342
HP:0009484	Deviation of the hand or of fingers of the hand	55165	CEP55	OMIM:236500
HP:0009484	Deviation of the hand or of fingers of the hand	84992	PIGY	OMIM:616809
HP:0009484	Deviation of the hand or of fingers of the hand	4094	MAF	ORPHA:1272
HP:0009484	Deviation of the hand or of fingers of the hand	6628	SNRPB	ORPHA:1393
HP:0009484	Deviation of the hand or of fingers of the hand	6628	SNRPB	OMIM:117650
HP:0009484	Deviation of the hand or of fingers of the hand	1028	CDKN1C	ORPHA:397590
HP:0009484	Deviation of the hand or of fingers of the hand	5324	PLAG1	ORPHA:397590
HP:0009484	Deviation of the hand or of fingers of the hand	9555	MACROH2A1	ORPHA:1275
HP:0009484	Deviation of the hand or of fingers of the hand	5422	POLA1	ORPHA:163976
HP:0009484	Deviation of the hand or of fingers of the hand	5422	POLA1	OMIM:301030
HP:0009484	Deviation of the hand or of fingers of the hand	10430	TMEM147	OMIM:620075
HP:0009484	Deviation of the hand or of fingers of the hand	3187	HNRNPH1	OMIM:620083
HP:0009484	Deviation of the hand or of fingers of the hand	23414	ZFPM2	OMIM:187500
HP:0009484	Deviation of the hand or of fingers of the hand	23414	ZFPM2	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	1482	NKX2-5	OMIM:187500
HP:0009484	Deviation of the hand or of fingers of the hand	1482	NKX2-5	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	182	JAG1	OMIM:187500
HP:0009484	Deviation of the hand or of fingers of the hand	182	JAG1	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	6899	TBX1	OMIM:187500
HP:0009484	Deviation of the hand or of fingers of the hand	6899	TBX1	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	2627	GATA6	OMIM:187500
HP:0009484	Deviation of the hand or of fingers of the hand	2627	GATA6	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	545	ATR	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	545	ATR	OMIM:210600
HP:0009484	Deviation of the hand or of fingers of the hand	1062	CENPE	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	5116	PCNT	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	5116	PCNT	OMIM:210720
HP:0009484	Deviation of the hand or of fingers of the hand	5116	PCNT	ORPHA:2637
HP:0009484	Deviation of the hand or of fingers of the hand	79902	NUP85	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	84126	ATRIP	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	55835	CENPJ	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	10293	TRAIP	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	10733	PLK4	ORPHA:808
HP:0009484	Deviation of the hand or of fingers of the hand	55023	PHIP	ORPHA:589905
HP:0009484	Deviation of the hand or of fingers of the hand	55023	PHIP	OMIM:617991
HP:0009484	Deviation of the hand or of fingers of the hand	2702	GJA5	OMIM:612474
HP:0009484	Deviation of the hand or of fingers of the hand	2702	GJA5	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	2703	GJA8	OMIM:612474
HP:0009484	Deviation of the hand or of fingers of the hand	3897	L1CAM	ORPHA:2466
HP:0009484	Deviation of the hand or of fingers of the hand	4208	MEF2C	OMIM:613443
HP:0009484	Deviation of the hand or of fingers of the hand	55690	PACS1	ORPHA:329224
HP:0009484	Deviation of the hand or of fingers of the hand	9230	RAB11B	OMIM:617807
HP:0009484	Deviation of the hand or of fingers of the hand	51621	KLF13	OMIM:612001
HP:0009484	Deviation of the hand or of fingers of the hand	5648	MASP1	OMIM:257920
HP:0009484	Deviation of the hand or of fingers of the hand	23394	ADNP	OMIM:615873
HP:0009484	Deviation of the hand or of fingers of the hand	9759	HDAC4	ORPHA:1001
HP:0009484	Deviation of the hand or of fingers of the hand	11133	KPTN	OMIM:615637
HP:0009484	Deviation of the hand or of fingers of the hand	11133	KPTN	ORPHA:397612
HP:0009484	Deviation of the hand or of fingers of the hand	85358	SHANK3	OMIM:606232
HP:0009484	Deviation of the hand or of fingers of the hand	85358	SHANK3	ORPHA:48652
HP:0009484	Deviation of the hand or of fingers of the hand	23028	KDM1A	OMIM:616728
HP:0009484	Deviation of the hand or of fingers of the hand	23028	KDM1A	ORPHA:477993
HP:0009484	Deviation of the hand or of fingers of the hand	137814	NKX2-6	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	3791	KDR	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	2657	GDF1	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	140628	GATA5	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	2324	FLT4	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	10370	CITED2	ORPHA:3303
HP:0009484	Deviation of the hand or of fingers of the hand	2334	AFF2	ORPHA:100973
HP:0009484	Deviation of the hand or of fingers of the hand	10847	SRCAP	OMIM:136140
HP:0009484	Deviation of the hand or of fingers of the hand	10982	MAPRE2	OMIM:616734
HP:0009484	Deviation of the hand or of fingers of the hand	4131	MAP1B	OMIM:618918
HP:0009484	Deviation of the hand or of fingers of the hand	54808	DYM	OMIM:223800
HP:0009484	Deviation of the hand or of fingers of the hand	84679	SLC9A7	OMIM:301024
HP:0009484	Deviation of the hand or of fingers of the hand	10735	STAG2	OMIM:301022
HP:0009484	Deviation of the hand or of fingers of the hand	10265	IRX5	OMIM:611174
HP:0009484	Deviation of the hand or of fingers of the hand	5925	RB1	ORPHA:1587
HP:0009484	Deviation of the hand or of fingers of the hand	7874	USP7	OMIM:616863
HP:0009484	Deviation of the hand or of fingers of the hand	3759	KCNJ2	OMIM:170390
HP:0009484	Deviation of the hand or of fingers of the hand	81620	CDT1	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	5000	ORC4	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	23594	ORC6	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	8318	CDC45	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	990	CDC6	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	51053	GMNN	ORPHA:2554
HP:0009484	Deviation of the hand or of fingers of the hand	64093	SMOC1	ORPHA:1106
HP:0009484	Deviation of the hand or of fingers of the hand	25	ABL1	OMIM:617602
HP:0009484	Deviation of the hand or of fingers of the hand	83696	TRAPPC9	ORPHA:352530
HP:0009484	Deviation of the hand or of fingers of the hand	860	RUNX2	ORPHA:1452
HP:0009484	Deviation of the hand or of fingers of the hand	29980	DONSON	OMIM:617604
HP:0009484	Deviation of the hand or of fingers of the hand	10664	CTCF	ORPHA:363611
HP:0009484	Deviation of the hand or of fingers of the hand	157680	VPS13B	ORPHA:193
HP:0009484	Deviation of the hand or of fingers of the hand	22931	RAB18	OMIM:614222
HP:0009484	Deviation of the hand or of fingers of the hand	9894	TELO2	ORPHA:488642
HP:0009484	Deviation of the hand or of fingers of the hand	490	ATP2B1	OMIM:619910
HP:0009484	Deviation of the hand or of fingers of the hand	8405	SPOP	OMIM:618828
HP:0009484	Deviation of the hand or of fingers of the hand	8405	SPOP	OMIM:618829
HP:0009484	Deviation of the hand or of fingers of the hand	284252	KCTD1	OMIM:181270
HP:0009484	Deviation of the hand or of fingers of the hand	54870	QRICH1	OMIM:617982
HP:0009484	Deviation of the hand or of fingers of the hand	139285	AMER1	OMIM:300373
HP:0009484	Deviation of the hand or of fingers of the hand	4841	NONO	ORPHA:466791
HP:0009484	Deviation of the hand or of fingers of the hand	1663	DDX11	OMIM:613398
HP:0009484	Deviation of the hand or of fingers of the hand	51317	PHF21A	OMIM:618725
HP:0009484	Deviation of the hand or of fingers of the hand	2186	BPTF	OMIM:617755
HP:0009484	Deviation of the hand or of fingers of the hand	4848	CNOT2	OMIM:618608
HP:0009484	Deviation of the hand or of fingers of the hand	64131	XYLT1	ORPHA:1425
HP:0009484	Deviation of the hand or of fingers of the hand	4204	MECP2	OMIM:300260
HP:0009484	Deviation of the hand or of fingers of the hand	55553	SOX6	OMIM:618971
HP:0009484	Deviation of the hand or of fingers of the hand	84148	KAT8	OMIM:618974
HP:0009484	Deviation of the hand or of fingers of the hand	4882	NPR2	OMIM:615923
HP:0009484	Deviation of the hand or of fingers of the hand	2697	GJA1	OMIM:257850
HP:0009484	Deviation of the hand or of fingers of the hand	56098	PCDHGC4	OMIM:619880
HP:0009484	Deviation of the hand or of fingers of the hand	5307	PITX1	OMIM:186550
HP:0009484	Deviation of the hand or of fingers of the hand	1297	COL9A1	ORPHA:166002
HP:0009484	Deviation of the hand or of fingers of the hand	1298	COL9A2	ORPHA:166002
HP:0009484	Deviation of the hand or of fingers of the hand	1299	COL9A3	ORPHA:166002
HP:0009484	Deviation of the hand or of fingers of the hand	9469	CHST3	OMIM:143095
HP:0009484	Deviation of the hand or of fingers of the hand	5518	PPP2R1A	OMIM:616362
HP:0009484	Deviation of the hand or of fingers of the hand	3549	IHH	OMIM:112500
HP:0009484	Deviation of the hand or of fingers of the hand	2263	FGFR2	OMIM:149730
HP:0009484	Deviation of the hand or of fingers of the hand	51651	PTRH2	OMIM:616263
HP:0009484	Deviation of the hand or of fingers of the hand	51651	PTRH2	ORPHA:456312
HP:0009484	Deviation of the hand or of fingers of the hand	8200	GDF5	OMIM:113100
HP:0009484	Deviation of the hand or of fingers of the hand	650	BMP2	OMIM:112600
HP:0009484	Deviation of the hand or of fingers of the hand	3209	HOXA13	OMIM:140000
HP:0009484	Deviation of the hand or of fingers of the hand	29123	ANKRD11	OMIM:148050
HP:0009484	Deviation of the hand or of fingers of the hand	23483	TGDS	OMIM:616145
HP:0009484	Deviation of the hand or of fingers of the hand	1146	CHRNG	OMIM:265000
HP:0009484	Deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:2053
HP:0009484	Deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:1147
HP:0009484	Deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:1146
HP:0009484	Deviation of the hand or of fingers of the hand	7476	WNT7A	OMIM:228930
HP:0009484	Deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1147
HP:0009484	Deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1146
HP:0009484	Deviation of the hand or of fingers of the hand	23233	EXOC6B	ORPHA:93359
HP:0009484	Deviation of the hand or of fingers of the hand	126792	B3GALT6	ORPHA:93359
HP:0009484	Deviation of the hand or of fingers of the hand	4604	MYBPC1	ORPHA:1146
HP:0009484	Deviation of the hand or of fingers of the hand	22930	RAB3GAP1	ORPHA:1387
HP:0009484	Deviation of the hand or of fingers of the hand	25782	RAB3GAP2	ORPHA:1387
HP:0009484	Deviation of the hand or of fingers of the hand	5077	PAX3	ORPHA:1529
HP:0009484	Deviation of the hand or of fingers of the hand	6473	SHOX	ORPHA:2632
HP:0009484	Deviation of the hand or of fingers of the hand	50945	TBX22	ORPHA:921
HP:0009484	Deviation of the hand or of fingers of the hand	3265	HRAS	ORPHA:3071
HP:0009484	Deviation of the hand or of fingers of the hand	613	BCR	ORPHA:261330
HP:0009484	Deviation of the hand or of fingers of the hand	1399	CRKL	ORPHA:261330
HP:0009484	Deviation of the hand or of fingers of the hand	5594	MAPK1	ORPHA:261330
HP:0009484	Deviation of the hand or of fingers of the hand	3977	LIFR	OMIM:601559
HP:0009484	Deviation of the hand or of fingers of the hand	3239	HOXD13	ORPHA:93406
HP:0009484	Deviation of the hand or of fingers of the hand	2201	FBN2	OMIM:121050
HP:0009484	Deviation of the hand or of fingers of the hand	1717	DHCR7	ORPHA:818
HP:0009484	Deviation of the hand or of fingers of the hand	6299	SALL1	ORPHA:857
HP:0009484	Deviation of the hand or of fingers of the hand	51339	DACT1	ORPHA:857
HP:0009484	Deviation of the hand or of fingers of the hand	658	BMPR1B	ORPHA:93384
HP:0009484	Deviation of the hand or of fingers of the hand	10225	CD96	OMIM:211750
HP:0009484	Deviation of the hand or of fingers of the hand	9382	COG1	OMIM:611209
HP:0009484	Deviation of the hand or of fingers of the hand	389827	MYMK	ORPHA:1358
HP:0009484	Deviation of the hand or of fingers of the hand	101929726	MYMX	ORPHA:1358
HP:0009484	Deviation of the hand or of fingers of the hand	59341	TRPV4	OMIM:606835
HP:0009484	Deviation of the hand or of fingers of the hand	59341	TRPV4	OMIM:113500
HP:0009484	Deviation of the hand or of fingers of the hand	4920	ROR2	OMIM:268310
HP:0009484	Deviation of the hand or of fingers of the hand	5295	PIK3R1	OMIM:269880
HP:0009484	Deviation of the hand or of fingers of the hand	2245	FGD1	OMIM:305400
HP:0009484	Deviation of the hand or of fingers of the hand	10262	SF3B4	OMIM:154400
HP:0009484	Deviation of the hand or of fingers of the hand	65250	CPLANE1	OMIM:277170
HP:0009484	Deviation of the hand or of fingers of the hand	8260	NAA10	OMIM:309800
HP:0009484	Deviation of the hand or of fingers of the hand	54880	BCOR	OMIM:309800
HP:0009484	Deviation of the hand or of fingers of the hand	9241	NOG	OMIM:186570
HP:0009484	Deviation of the hand or of fingers of the hand	9241	NOG	OMIM:186500
HP:0009484	Deviation of the hand or of fingers of the hand	546	ATRX	OMIM:309580
HP:0009484	Deviation of the hand or of fingers of the hand	546	ATRX	OMIM:301040
HP:0009484	Deviation of the hand or of fingers of the hand	2146	EZH2	OMIM:277590
HP:0009484	Deviation of the hand or of fingers of the hand	84100	ARL6	OMIM:209900
HP:0009484	Deviation of the hand or of fingers of the hand	79140	CCDC28B	OMIM:209900
HP:0009484	Deviation of the hand or of fingers of the hand	582	BBS1	OMIM:209900
HP:0009484	Deviation of the hand or of fingers of the hand	157570	ESCO2	ORPHA:3103
HP:0009484	Deviation of the hand or of fingers of the hand	157570	ESCO2	OMIM:268300
HP:0009484	Deviation of the hand or of fingers of the hand	7681	MKRN3	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	3653	IPW	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	54551	MAGEL2	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	791114	PWRN1	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	100033413	SNORD116-1	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	8924	HERC2	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	145624	PWAR1	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	23742	NPAP1	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	338433	SNORD115-1	OMIM:176270
HP:0009484	Deviation of the hand or of fingers of the hand	55764	IFT122	OMIM:218330
HP:0009484	Deviation of the hand or of fingers of the hand	7474	WNT5A	OMIM:180700
HP:0009484	Deviation of the hand or of fingers of the hand	1855	DVL1	OMIM:180700
HP:0009484	Deviation of the hand or of fingers of the hand	257	ALX3	OMIM:136760
HP:0009484	Deviation of the hand or of fingers of the hand	4089	SMAD4	OMIM:139210
HP:0009484	Deviation of the hand or of fingers of the hand	54903	MKS1	OMIM:249000
HP:0009484	Deviation of the hand or of fingers of the hand	2261	FGFR3	OMIM:602849
HP:0009484	Deviation of the hand or of fingers of the hand	8481	OFD1	OMIM:311200
HP:0009484	Deviation of the hand or of fingers of the hand	25942	SIN3A	OMIM:613406
HP:0009484	Deviation of the hand or of fingers of the hand	9244	CRLF1	OMIM:272430
HP:0009484	Deviation of the hand or of fingers of the hand	3480	IGF1R	OMIM:270450
HP:0009484	Deviation of the hand or of fingers of the hand	5604	MAP2K1	OMIM:163950
HP:0009484	Deviation of the hand or of fingers of the hand	5781	PTPN11	OMIM:163950
HP:0009484	Deviation of the hand or of fingers of the hand	673	BRAF	OMIM:163950
HP:0009484	Deviation of the hand or of fingers of the hand	26227	PHGDH	OMIM:256520
HP:0009484	Deviation of the hand or of fingers of the hand	124583	CANT1	OMIM:251450
HP:0009484	Deviation of the hand or of fingers of the hand	81857	MED25	ORPHA:464738
HP:0009484	Deviation of the hand or of fingers of the hand	80207	OPA3	ORPHA:67036
HP:0009484	Deviation of the hand or of fingers of the hand	64327	LMBR1	ORPHA:93321
HP:0009484	Deviation of the hand or of fingers of the hand	6469	SHH	ORPHA:93321
HP:0009484	Deviation of the hand or of fingers of the hand	9401	RECQL4	OMIM:218600
HP:0009484	Deviation of the hand or of fingers of the hand	55906	ZC4H2	OMIM:301041
HP:0009484	Deviation of the hand or of fingers of the hand	633	BGN	OMIM:300106
HP:0009484	Deviation of the hand or of fingers of the hand	57167	SALL4	OMIM:607323
HP:0009484	Deviation of the hand or of fingers of the hand	9775	EIF4A3	OMIM:268305
HP:0009484	Deviation of the hand or of fingers of the hand	3930	LBR	OMIM:215140
HP:0009484	Deviation of the hand or of fingers of the hand	23111	SPART	OMIM:275900
HP:0009484	Deviation of the hand or of fingers of the hand	55131	RBM28	ORPHA:157954
HP:0009484	Deviation of the hand or of fingers of the hand	55131	RBM28	OMIM:612079
HP:0009484	Deviation of the hand or of fingers of the hand	4123	MAN2C1	OMIM:619775
HP:0009484	Deviation of the hand or of fingers of the hand	9968	MED12	OMIM:300895
HP:0009484	Deviation of the hand or of fingers of the hand	56896	DPYSL5	OMIM:619435
HP:0009484	Deviation of the hand or of fingers of the hand	6885	MAP3K7	OMIM:617137
HP:0009484	Deviation of the hand or of fingers of the hand	6885	MAP3K7	ORPHA:1826
HP:0009484	Deviation of the hand or of fingers of the hand	57211	ADGRG6	OMIM:616503
HP:0009484	Deviation of the hand or of fingers of the hand	2316	FLNA	ORPHA:1826
HP:0009484	Deviation of the hand or of fingers of the hand	9939	RBM8A	OMIM:274000
HP:0009484	Deviation of the hand or of fingers of the hand	1311	COMP	OMIM:177170
HP:0009484	Deviation of the hand or of fingers of the hand	23299	BICD2	OMIM:618291
HP:0009484	Deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261537
HP:0009484	Deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261552
HP:0009484	Deviation of the hand or of fingers of the hand	80816	ASXL3	OMIM:615485
HP:0009484	Deviation of the hand or of fingers of the hand	80776	B9D2	OMIM:614175
HP:0009484	Deviation of the hand or of fingers of the hand	79633	FAT4	OMIM:615546
HP:0009484	Deviation of the hand or of fingers of the hand	118924	FRA10AC1	OMIM:620113
HP:0009484	Deviation of the hand or of fingers of the hand	3911	LAMA5	OMIM:620076
HP:0009484	Deviation of the hand or of fingers of the hand	23476	BRD4	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	9126	SMC3	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	9126	SMC3	OMIM:610759
HP:0009484	Deviation of the hand or of fingers of the hand	8243	SMC1A	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	8243	SMC1A	OMIM:300590
HP:0009484	Deviation of the hand or of fingers of the hand	25836	NIPBL	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	25836	NIPBL	OMIM:122470
HP:0009484	Deviation of the hand or of fingers of the hand	55869	HDAC8	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	55869	HDAC8	OMIM:300882
HP:0009484	Deviation of the hand or of fingers of the hand	5885	RAD21	ORPHA:199
HP:0009484	Deviation of the hand or of fingers of the hand	9361	LONP1	OMIM:600373
HP:0009484	Deviation of the hand or of fingers of the hand	579	NKX3-2	OMIM:613330
HP:0009484	Deviation of the hand or of fingers of the hand	145173	B3GLCT	OMIM:261540
HP:0009484	Deviation of the hand or of fingers of the hand	998	CDC42	ORPHA:487796
HP:0009484	Deviation of the hand or of fingers of the hand	998	CDC42	OMIM:616737
HP:0009484	Deviation of the hand or of fingers of the hand	22800	RRAS2	OMIM:618624
HP:0009484	Deviation of the hand or of fingers of the hand	2187	FANCB	OMIM:314390
HP:0009484	Deviation of the hand or of fingers of the hand	7547	ZIC3	OMIM:314390
HP:0009484	Deviation of the hand or of fingers of the hand	8314	BAP1	OMIM:619762
HP:0009484	Deviation of the hand or of fingers of the hand	6472	SHMT2	OMIM:619121
HP:0009484	Deviation of the hand or of fingers of the hand	5889	RAD51C	OMIM:613390
HP:0009484	Deviation of the hand or of fingers of the hand	652	BMP4	ORPHA:139471
HP:0009484	Deviation of the hand or of fingers of the hand	79087	ALG12	ORPHA:79324
HP:0009484	Deviation of the hand or of fingers of the hand	3756	KCNH1	OMIM:611816
HP:0009484	Deviation of the hand or of fingers of the hand	2626	GATA4	ORPHA:251071
HP:0009484	Deviation of the hand or of fingers of the hand	7020	TFAP2A	OMIM:113620
HP:0009484	Deviation of the hand or of fingers of the hand	672	BRCA1	OMIM:617883
HP:0009484	Deviation of the hand or of fingers of the hand	8626	TP63	ORPHA:1896
HP:0009484	Deviation of the hand or of fingers of the hand	9419	CRIPT	OMIM:615789
HP:0009484	Deviation of the hand or of fingers of the hand	4247	MGAT2	OMIM:212066
HP:0009484	Deviation of the hand or of fingers of the hand	9343	EFTUD2	OMIM:610536
HP:0009484	Deviation of the hand or of fingers of the hand	58499	ZNF462	OMIM:618619
HP:0009484	Deviation of the hand or of fingers of the hand	10682	EBP	ORPHA:401973
HP:0009484	Deviation of the hand or of fingers of the hand	10682	EBP	OMIM:300960
HP:0009484	Deviation of the hand or of fingers of the hand	91949	COG7	OMIM:608779
HP:0009484	Deviation of the hand or of fingers of the hand	80347	COASY	OMIM:618266
HP:0009484	Deviation of the hand or of fingers of the hand	50515	CHST11	OMIM:618167
HP:0009484	Deviation of the hand or of fingers of the hand	285489	DOK7	OMIM:618389
HP:0009484	Deviation of the hand or of fingers of the hand	348180	CTU2	OMIM:618142
HP:0009484	Deviation of the hand or of fingers of the hand	1272	CNTN1	OMIM:612540
HP:0009484	Deviation of the hand or of fingers of the hand	7841	MOGS	OMIM:606056
HP:0009484	Deviation of the hand or of fingers of the hand	7841	MOGS	ORPHA:79330
HP:0009484	Deviation of the hand or of fingers of the hand	256297	PTF1A	OMIM:609069
HP:0009484	Deviation of the hand or of fingers of the hand	55593	OTUD5	OMIM:301056
HP:0009484	Deviation of the hand or of fingers of the hand	129285	PPP1R21	OMIM:619383
HP:0009484	Deviation of the hand or of fingers of the hand	91754	NEK9	OMIM:617022
HP:0009484	Deviation of the hand or of fingers of the hand	8567	MADD	OMIM:619004
HP:0009484	Deviation of the hand or of fingers of the hand	5297	PI4KA	OMIM:616531
HP:0009484	Deviation of the hand or of fingers of the hand	5297	PI4KA	OMIM:619708
HP:0009484	Deviation of the hand or of fingers of the hand	1822	ATN1	OMIM:618494
HP:0009484	Deviation of the hand or of fingers of the hand	8985	PLOD3	OMIM:612394
HP:0009484	Deviation of the hand or of fingers of the hand	84162	BLTP1	OMIM:617822
HP:0009484	Deviation of the hand or of fingers of the hand	5591	PRKDC	OMIM:615966
HP:0009484	Deviation of the hand or of fingers of the hand	4654	MYOD1	OMIM:618975
HP:0009484	Deviation of the hand or of fingers of the hand	9772	TMEM94	OMIM:618316
HP:0009484	Deviation of the hand or of fingers of the hand	2122	MECOM	OMIM:616738
HP:0009484	Deviation of the hand or of fingers of the hand	26040	SETBP1	ORPHA:798
HP:0009484	Deviation of the hand or of fingers of the hand	2121	EVC	ORPHA:952
HP:0009484	Deviation of the hand or of fingers of the hand	132884	EVC2	ORPHA:952
HP:0009484	Deviation of the hand or of fingers of the hand	55249	YY1AP1	OMIM:602531
HP:0009484	Deviation of the hand or of fingers of the hand	10466	COG5	ORPHA:263487
HP:0009484	Deviation of the hand or of fingers of the hand	8092	ALX1	ORPHA:306542
HP:0009484	Deviation of the hand or of fingers of the hand	150468	CKAP2L	OMIM:272440
HP:0009484	Deviation of the hand or of fingers of the hand	4750	NEK1	ORPHA:2751
HP:0009484	Deviation of the hand or of fingers of the hand	6925	TCF4	ORPHA:2896
HP:0009484	Deviation of the hand or of fingers of the hand	10210	TOPORS	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	9851	KIAA0753	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	26123	TCTN3	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	5147	PDE6D	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	51259	TMEM216	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	317662	FAM149B1	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	374654	KIF7	ORPHA:2754
HP:0009484	Deviation of the hand or of fingers of the hand	22827	PUF60	ORPHA:508488
HP:0009484	Deviation of the hand or of fingers of the hand	6910	TBX5	OMIM:142900
HP:0009484	Deviation of the hand or of fingers of the hand	84342	COG8	OMIM:611182
HP:0009484	Deviation of the hand or of fingers of the hand	2036	EPB41L1	OMIM:614257
HP:0009484	Deviation of the hand or of fingers of the hand	55784	MCTP2	ORPHA:1596
HP:0009484	Deviation of the hand or of fingers of the hand	1747	DLX3	ORPHA:3352
HP:0009484	Deviation of the hand or of fingers of the hand	4000	LMNA	ORPHA:79474
HP:0009484	Deviation of the hand or of fingers of the hand	10236	HNRNPR	OMIM:620073
HP:0009484	Deviation of the hand or of fingers of the hand	9742	IFT140	OMIM:266920
HP:0009484	Deviation of the hand or of fingers of the hand	55790	CSGALNACT1	OMIM:618870
HP:0009484	Deviation of the hand or of fingers of the hand	55027	HEATR3	OMIM:620072
HP:0009484	Deviation of the hand or of fingers of the hand	91461	PKDCC	OMIM:618821
HP:0009484	Deviation of the hand or of fingers of the hand	388015	RTL1	ORPHA:96334
HP:0009484	Deviation of the hand or of fingers of the hand	8788	DLK1	ORPHA:96334
HP:0009484	Deviation of the hand or of fingers of the hand	55384	MEG3	ORPHA:96334
HP:0009484	Deviation of the hand or of fingers of the hand	1301	COL11A1	OMIM:154780
HP:0009484	Deviation of the hand or of fingers of the hand	6638	SNRPN	ORPHA:177907
HP:0009484	Deviation of the hand or of fingers of the hand	3767	KCNJ11	ORPHA:79134
HP:0009484	Deviation of the hand or of fingers of the hand	79731	NARS2	ORPHA:79134
HP:0009484	Deviation of the hand or of fingers of the hand	6833	ABCC8	ORPHA:79134
HP:0009484	Deviation of the hand or of fingers of the hand	5293	PIK3CD	ORPHA:221139
HP:0009484	Deviation of the hand or of fingers of the hand	90417	KNSTRN	ORPHA:221139
HP:0009485	Radial deviation of the hand or of fingers of the hand	1836	SLC26A2	ORPHA:56304
HP:0009485	Radial deviation of the hand or of fingers of the hand	1836	SLC26A2	OMIM:256050
HP:0009485	Radial deviation of the hand or of fingers of the hand	1836	SLC26A2	OMIM:222600
HP:0009485	Radial deviation of the hand or of fingers of the hand	79796	ALG9	ORPHA:79328
HP:0009485	Radial deviation of the hand or of fingers of the hand	22858	CILK1	OMIM:612651
HP:0009485	Radial deviation of the hand or of fingers of the hand	1954	MEGF8	OMIM:614976
HP:0009485	Radial deviation of the hand or of fingers of the hand	2317	FLNB	OMIM:108721
HP:0009485	Radial deviation of the hand or of fingers of the hand	23019	CNOT1	OMIM:618500
HP:0009485	Radial deviation of the hand or of fingers of the hand	22856	CHSY1	OMIM:605282
HP:0009485	Radial deviation of the hand or of fingers of the hand	54928	BPNT2	OMIM:614078
HP:0009485	Radial deviation of the hand or of fingers of the hand	57167	SALL4	ORPHA:959
HP:0009485	Radial deviation of the hand or of fingers of the hand	54809	SAMD9	OMIM:617053
HP:0009485	Radial deviation of the hand or of fingers of the hand	2737	GLI3	ORPHA:93322
HP:0009485	Radial deviation of the hand or of fingers of the hand	5307	PITX1	OMIM:186550
HP:0009485	Radial deviation of the hand or of fingers of the hand	1297	COL9A1	ORPHA:166002
HP:0009485	Radial deviation of the hand or of fingers of the hand	1298	COL9A2	ORPHA:166002
HP:0009485	Radial deviation of the hand or of fingers of the hand	1299	COL9A3	ORPHA:166002
HP:0009485	Radial deviation of the hand or of fingers of the hand	3549	IHH	OMIM:112500
HP:0009485	Radial deviation of the hand or of fingers of the hand	2263	FGFR2	OMIM:149730
HP:0009485	Radial deviation of the hand or of fingers of the hand	59341	TRPV4	OMIM:606835
HP:0009485	Radial deviation of the hand or of fingers of the hand	59341	TRPV4	OMIM:113500
HP:0009485	Radial deviation of the hand or of fingers of the hand	4920	ROR2	OMIM:268310
HP:0009485	Radial deviation of the hand or of fingers of the hand	5295	PIK3R1	OMIM:269880
HP:0009485	Radial deviation of the hand or of fingers of the hand	2245	FGD1	OMIM:305400
HP:0009485	Radial deviation of the hand or of fingers of the hand	10262	SF3B4	OMIM:154400
HP:0009485	Radial deviation of the hand or of fingers of the hand	65250	CPLANE1	OMIM:277170
HP:0009485	Radial deviation of the hand or of fingers of the hand	8260	NAA10	OMIM:309800
HP:0009485	Radial deviation of the hand or of fingers of the hand	54880	BCOR	OMIM:309800
HP:0009485	Radial deviation of the hand or of fingers of the hand	9241	NOG	OMIM:186570
HP:0009485	Radial deviation of the hand or of fingers of the hand	9241	NOG	OMIM:186500
HP:0009485	Radial deviation of the hand or of fingers of the hand	546	ATRX	OMIM:309580
HP:0009485	Radial deviation of the hand or of fingers of the hand	546	ATRX	OMIM:301040
HP:0009485	Radial deviation of the hand or of fingers of the hand	2146	EZH2	OMIM:277590
HP:0009485	Radial deviation of the hand or of fingers of the hand	84100	ARL6	OMIM:209900
HP:0009485	Radial deviation of the hand or of fingers of the hand	79140	CCDC28B	OMIM:209900
HP:0009485	Radial deviation of the hand or of fingers of the hand	582	BBS1	OMIM:209900
HP:0009485	Radial deviation of the hand or of fingers of the hand	157570	ESCO2	ORPHA:3103
HP:0009485	Radial deviation of the hand or of fingers of the hand	157570	ESCO2	OMIM:268300
HP:0009485	Radial deviation of the hand or of fingers of the hand	7681	MKRN3	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	3653	IPW	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	54551	MAGEL2	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	791114	PWRN1	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	100033413	SNORD116-1	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	8924	HERC2	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	145624	PWAR1	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	23742	NPAP1	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	338433	SNORD115-1	OMIM:176270
HP:0009485	Radial deviation of the hand or of fingers of the hand	55764	IFT122	OMIM:218330
HP:0009485	Radial deviation of the hand or of fingers of the hand	7474	WNT5A	OMIM:180700
HP:0009485	Radial deviation of the hand or of fingers of the hand	1855	DVL1	OMIM:180700
HP:0009485	Radial deviation of the hand or of fingers of the hand	257	ALX3	OMIM:136760
HP:0009485	Radial deviation of the hand or of fingers of the hand	4089	SMAD4	OMIM:139210
HP:0009485	Radial deviation of the hand or of fingers of the hand	54903	MKS1	OMIM:249000
HP:0009485	Radial deviation of the hand or of fingers of the hand	29123	ANKRD11	OMIM:148050
HP:0009485	Radial deviation of the hand or of fingers of the hand	2261	FGFR3	OMIM:602849
HP:0009485	Radial deviation of the hand or of fingers of the hand	8481	OFD1	OMIM:311200
HP:0009485	Radial deviation of the hand or of fingers of the hand	25942	SIN3A	OMIM:613406
HP:0009485	Radial deviation of the hand or of fingers of the hand	9968	MED12	OMIM:305450
HP:0009485	Radial deviation of the hand or of fingers of the hand	9244	CRLF1	OMIM:272430
HP:0009485	Radial deviation of the hand or of fingers of the hand	10225	CD96	OMIM:211750
HP:0009485	Radial deviation of the hand or of fingers of the hand	3480	IGF1R	OMIM:270450
HP:0009485	Radial deviation of the hand or of fingers of the hand	5604	MAP2K1	OMIM:163950
HP:0009485	Radial deviation of the hand or of fingers of the hand	5781	PTPN11	OMIM:163950
HP:0009485	Radial deviation of the hand or of fingers of the hand	673	BRAF	OMIM:163950
HP:0009485	Radial deviation of the hand or of fingers of the hand	26227	PHGDH	OMIM:256520
HP:0009485	Radial deviation of the hand or of fingers of the hand	658	BMPR1B	OMIM:112600
HP:0009485	Radial deviation of the hand or of fingers of the hand	8200	GDF5	OMIM:112600
HP:0009485	Radial deviation of the hand or of fingers of the hand	650	BMP2	OMIM:112600
HP:0009485	Radial deviation of the hand or of fingers of the hand	23483	TGDS	ORPHA:1388
HP:0009485	Radial deviation of the hand or of fingers of the hand	2316	FLNA	OMIM:304120
HP:0009485	Radial deviation of the hand or of fingers of the hand	124583	CANT1	OMIM:251450
HP:0009485	Radial deviation of the hand or of fingers of the hand	9401	RECQL4	OMIM:218600
HP:0009485	Radial deviation of the hand or of fingers of the hand	55906	ZC4H2	OMIM:301041
HP:0009485	Radial deviation of the hand or of fingers of the hand	633	BGN	OMIM:300106
HP:0009485	Radial deviation of the hand or of fingers of the hand	9939	RBM8A	OMIM:274000
HP:0009485	Radial deviation of the hand or of fingers of the hand	9775	EIF4A3	OMIM:268305
HP:0009486	Radial deviation of the hand	57167	SALL4	ORPHA:959
HP:0009486	Radial deviation of the hand	54809	SAMD9	OMIM:617053
HP:0009486	Radial deviation of the hand	2737	GLI3	ORPHA:93322
HP:0009486	Radial deviation of the hand	5307	PITX1	OMIM:186550
HP:0009486	Radial deviation of the hand	1297	COL9A1	ORPHA:166002
HP:0009486	Radial deviation of the hand	1298	COL9A2	ORPHA:166002
HP:0009486	Radial deviation of the hand	1299	COL9A3	ORPHA:166002
HP:0009486	Radial deviation of the hand	9401	RECQL4	OMIM:218600
HP:0009486	Radial deviation of the hand	55906	ZC4H2	OMIM:301041
HP:0009486	Radial deviation of the hand	633	BGN	OMIM:300106
HP:0009486	Radial deviation of the hand	9939	RBM8A	OMIM:274000
HP:0009486	Radial deviation of the hand	9775	EIF4A3	OMIM:268305
HP:0009487	Ulnar deviation of the hand	56098	PCDHGC4	OMIM:619880
HP:0009487	Ulnar deviation of the hand	1297	COL9A1	ORPHA:166002
HP:0009487	Ulnar deviation of the hand	1298	COL9A2	ORPHA:166002
HP:0009487	Ulnar deviation of the hand	1299	COL9A3	ORPHA:166002
HP:0009487	Ulnar deviation of the hand	3930	LBR	OMIM:215140
HP:0009487	Ulnar deviation of the hand	23111	SPART	OMIM:275900
HP:0009487	Ulnar deviation of the hand	55131	RBM28	ORPHA:157954
HP:0009487	Ulnar deviation of the hand	55131	RBM28	OMIM:612079
HP:0009487	Ulnar deviation of the hand	4123	MAN2C1	OMIM:619775
HP:0009487	Ulnar deviation of the hand	9968	MED12	OMIM:300895
HP:0009487	Ulnar deviation of the hand	56896	DPYSL5	OMIM:619435
HP:0009487	Ulnar deviation of the hand	4593	MUSK	OMIM:208150
HP:0009487	Ulnar deviation of the hand	6885	MAP3K7	OMIM:617137
HP:0009487	Ulnar deviation of the hand	6885	MAP3K7	ORPHA:1826
HP:0009487	Ulnar deviation of the hand	57211	ADGRG6	OMIM:616503
HP:0009487	Ulnar deviation of the hand	2316	FLNA	ORPHA:1826
HP:0009487	Ulnar deviation of the hand	9939	RBM8A	OMIM:274000
HP:0009487	Ulnar deviation of the hand	1311	COMP	OMIM:177170
HP:0009487	Ulnar deviation of the hand	23299	BICD2	OMIM:618291
HP:0009487	Ulnar deviation of the hand	9839	ZEB2	ORPHA:261537
HP:0009487	Ulnar deviation of the hand	9839	ZEB2	ORPHA:261552
HP:0009487	Ulnar deviation of the hand	79796	ALG9	ORPHA:79328
HP:0009487	Ulnar deviation of the hand	79796	ALG9	OMIM:263210
HP:0009487	Ulnar deviation of the hand	80816	ASXL3	OMIM:615485
HP:0009487	Ulnar deviation of the hand	80776	B9D2	OMIM:614175
HP:0009487	Ulnar deviation of the hand	1836	SLC26A2	ORPHA:93307
HP:0009487	Ulnar deviation of the hand	5077	PAX3	OMIM:122880
HP:0009487	Ulnar deviation of the hand	22858	CILK1	OMIM:612651
HP:0009487	Ulnar deviation of the hand	4621	MYH3	OMIM:618436
HP:0009487	Ulnar deviation of the hand	79633	FAT4	OMIM:615546
HP:0009487	Ulnar deviation of the hand	9935	MAFB	OMIM:166300
HP:0009487	Ulnar deviation of the hand	118924	FRA10AC1	OMIM:620113
HP:0009487	Ulnar deviation of the hand	3911	LAMA5	OMIM:620076
HP:0009487	Ulnar deviation of the hand	5189	PEX1	OMIM:214100
HP:0011165	Focal sensory seizure with visual features	7957	EPM2A	OMIM:254780
HP:0011165	Focal sensory seizure with visual features	7957	EPM2A	ORPHA:501
HP:0011165	Focal sensory seizure with visual features	378884	NHLRC1	OMIM:254780
HP:0011165	Focal sensory seizure with visual features	378884	NHLRC1	ORPHA:501
HP:0011165	Focal sensory seizure with visual features	6900	CNTN2	OMIM:615400
HP:0011165	Focal sensory seizure with visual features	5649	RELN	OMIM:600512
HP:0011165	Focal sensory seizure with visual features	64780	MICAL1	OMIM:600512
HP:0011165	Focal sensory seizure with visual features	9211	LGI1	OMIM:600512
HP:0025124	Fragile teeth	8792	TNFRSF11A	OMIM:174810
HP:0025125	White lesion of the oral mucosa	7298	TYMS	OMIM:620040
HP:0025125	White lesion of the oral mucosa	7298	TYMS	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:268130
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:613990
HP:0025125	White lesion of the oral mucosa	26277	TINF2	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	26277	TINF2	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:127550
HP:0025125	White lesion of the oral mucosa	7157	TP53	OMIM:618165
HP:0025125	White lesion of the oral mucosa	3851	KRT4	OMIM:193900
HP:0025125	White lesion of the oral mucosa	55651	NHP2	OMIM:224230
HP:0025125	White lesion of the oral mucosa	55651	NHP2	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55651	NHP2	OMIM:613987
HP:0025125	White lesion of the oral mucosa	55505	NOP10	OMIM:224230
HP:0025125	White lesion of the oral mucosa	55505	NOP10	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	79651	RHBDF2	OMIM:148500
HP:0025125	White lesion of the oral mucosa	286887	KRT6C	OMIM:615735
HP:0025125	White lesion of the oral mucosa	3868	KRT16	OMIM:167200
HP:0025125	White lesion of the oral mucosa	3868	KRT16	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	1736	DKC1	OMIM:305000
HP:0025125	White lesion of the oral mucosa	1736	DKC1	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	1736	DKC1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	51750	RTEL1	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	51750	RTEL1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	65057	ACD	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	65057	ACD	OMIM:616553
HP:0025125	White lesion of the oral mucosa	5073	PARN	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	5073	PARN	OMIM:616353
HP:0025125	White lesion of the oral mucosa	5073	PARN	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7015	TERT	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	7015	TERT	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7015	TERT	OMIM:127550
HP:0025125	White lesion of the oral mucosa	7015	TERT	OMIM:613989
HP:0025125	White lesion of the oral mucosa	4210	MEFV	ORPHA:342
HP:0025125	White lesion of the oral mucosa	831	CAST	OMIM:616295
HP:0025125	White lesion of the oral mucosa	80169	CTC1	OMIM:612199
HP:0025125	White lesion of the oral mucosa	80169	CTC1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	79650	USB1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55135	WRAP53	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55135	WRAP53	OMIM:613988
HP:0025125	White lesion of the oral mucosa	4869	NPM1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7012	TERC	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7012	TERC	OMIM:127550
HP:0025125	White lesion of the oral mucosa	55612	FERMT1	OMIM:173650
HP:0025125	White lesion of the oral mucosa	2706	GJB2	OMIM:148210
HP:0025125	White lesion of the oral mucosa	6117	RPA1	OMIM:619767
HP:0025125	White lesion of the oral mucosa	3872	KRT17	OMIM:167210
HP:0025125	White lesion of the oral mucosa	3872	KRT17	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	3853	KRT6A	OMIM:615726
HP:0025125	White lesion of the oral mucosa	3853	KRT6A	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	3854	KRT6B	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	64858	DCLRE1B	OMIM:620133
HP:0025127	Actinic keratosis	545	ATR	OMIM:614564
HP:0025127	Actinic keratosis	7508	XPC	OMIM:278720
HP:0025128	Reduced intraabdominal adipose tissue	26580	BSCL2	ORPHA:363400
HP:0025128	Reduced intraabdominal adipose tissue	26580	BSCL2	OMIM:269700
HP:0025128	Reduced intraabdominal adipose tissue	10555	AGPAT2	OMIM:608594
HP:0025129	Abnormal small intestinal mucosa morphology	4072	EPCAM	ORPHA:92050
HP:0025129	Abnormal small intestinal mucosa morphology	4072	EPCAM	OMIM:613217
HP:0025129	Abnormal small intestinal mucosa morphology	105371045	PERCC1	ORPHA:92050
HP:0025129	Abnormal small intestinal mucosa morphology	105371045	PERCC1	OMIM:618662
HP:0025129	Abnormal small intestinal mucosa morphology	4351	MPI	OMIM:602579
HP:0025129	Abnormal small intestinal mucosa morphology	6772	STAT1	ORPHA:391487
HP:0025129	Abnormal small intestinal mucosa morphology	6772	STAT1	OMIM:614162
HP:0025129	Abnormal small intestinal mucosa morphology	10043	TOM1	ORPHA:391487
HP:0025129	Abnormal small intestinal mucosa morphology	10043	TOM1	OMIM:619510
HP:0025129	Abnormal small intestinal mucosa morphology	5122	PCSK1	OMIM:600955
HP:0025129	Abnormal small intestinal mucosa morphology	55898	UNC45A	OMIM:619377
HP:0025129	Abnormal small intestinal mucosa morphology	7482	WNT2B	OMIM:618168
HP:0025129	Abnormal small intestinal mucosa morphology	6809	STX3	ORPHA:2290
HP:0025129	Abnormal small intestinal mucosa morphology	6809	STX3	OMIM:619445
HP:0025129	Abnormal small intestinal mucosa morphology	4645	MYO5B	ORPHA:2290
HP:0025129	Abnormal small intestinal mucosa morphology	4645	MYO5B	OMIM:251850
HP:0025129	Abnormal small intestinal mucosa morphology	50619	DEF6	OMIM:619573
HP:0025129	Abnormal small intestinal mucosa morphology	9652	SKIC3	OMIM:222470
HP:0025129	Abnormal small intestinal mucosa morphology	9652	SKIC3	ORPHA:84064
HP:0025129	Abnormal small intestinal mucosa morphology	4261	CIITA	OMIM:209920
HP:0025129	Abnormal small intestinal mucosa morphology	5994	RFXAP	OMIM:209920
HP:0025129	Abnormal small intestinal mucosa morphology	5993	RFX5	OMIM:209920
HP:0025129	Abnormal small intestinal mucosa morphology	8625	RFXANK	OMIM:209920
HP:0025129	Abnormal small intestinal mucosa morphology	6499	SKIC2	OMIM:614602
HP:0025129	Abnormal small intestinal mucosa morphology	6499	SKIC2	ORPHA:84064
HP:0025129	Abnormal small intestinal mucosa morphology	6868	ADAM17	OMIM:614328
HP:0025129	Abnormal small intestinal mucosa morphology	987	LRBA	OMIM:614700
HP:0025129	Abnormal small intestinal mucosa morphology	50943	FOXP3	OMIM:304790
HP:0025129	Abnormal small intestinal mucosa morphology	6850	SYK	OMIM:619381
HP:0025129	Abnormal small intestinal mucosa morphology	79796	ALG9	ORPHA:79328
HP:0025129	Abnormal small intestinal mucosa morphology	10195	ALG3	OMIM:601110
HP:0025129	Abnormal small intestinal mucosa morphology	58484	NLRC4	OMIM:616050
HP:0025129	Abnormal small intestinal mucosa morphology	8694	DGAT1	OMIM:615863
HP:0025129	Abnormal small intestinal mucosa morphology	11005	SPINK5	OMIM:256500
HP:0025129	Abnormal small intestinal mucosa morphology	3559	IL2RA	OMIM:606367
HP:0025129	Abnormal small intestinal mucosa morphology	5373	PMM2	OMIM:212065
HP:0025129	Abnormal small intestinal mucosa morphology	3938	LCT	OMIM:223000
HP:0025129	Abnormal small intestinal mucosa morphology	4175	MCM6	OMIM:223100
HP:0009491	Enlarged epiphyses of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009498	Triangular epiphyses of the 2nd finger	8200	GDF5	OMIM:113100
HP:0025130	Decreased small intestinal mucosa lactase level	3938	LCT	OMIM:223000
HP:0025130	Decreased small intestinal mucosa lactase level	4175	MCM6	OMIM:223100
HP:0025131	Finger swelling	6399	TRAPPC2	ORPHA:93284
HP:0025131	Finger swelling	5696	PSMB8	OMIM:256040
HP:0025131	Finger swelling	5692	PSMB4	OMIM:617591
HP:0025131	Finger swelling	5698	PSMB9	OMIM:617591
HP:0025131	Finger swelling	4952	OCRL	OMIM:309000
HP:0025131	Finger swelling	4313	MMP2	OMIM:259600
HP:0025132	Abnormal circulating estrogen level	254394	MCM9	OMIM:616185
HP:0025132	Abnormal circulating estrogen level	402381	SOHLH1	OMIM:617690
HP:0025132	Abnormal circulating estrogen level	79625	NDNF	OMIM:618841
HP:0025132	Abnormal circulating estrogen level	2100	ESR2	OMIM:618187
HP:0025132	Abnormal circulating estrogen level	2796	GNRH1	OMIM:614841
HP:0025132	Abnormal circulating estrogen level	3814	KISS1	OMIM:614842
HP:0025132	Abnormal circulating estrogen level	8314	BAP1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	4771	NF2	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6598	SMARCB1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	5155	PDGFB	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	84231	TRAF7	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6608	SMO	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	207	AKT1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	5290	PIK3CA	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	51684	SUFU	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6605	SMARCE1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	646	BNC1	OMIM:618723
HP:0025132	Abnormal circulating estrogen level	646	BNC1	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	125150	ZSWIM7	OMIM:619834
HP:0025132	Abnormal circulating estrogen level	125150	ZSWIM7	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	80067	DCAF17	ORPHA:3464
HP:0025132	Abnormal circulating estrogen level	7490	WT1	ORPHA:347
HP:0025132	Abnormal circulating estrogen level	7490	WT1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	5447	POR	ORPHA:95699
HP:0025132	Abnormal circulating estrogen level	29893	PSMC3IP	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	171568	POLR3H	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	2516	NR5A1	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	2516	NR5A1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	9210	BMP15	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	57122	NUP107	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	23514	SPIDR	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	23514	SPIDR	OMIM:619665
HP:0025132	Abnormal circulating estrogen level	2492	FSHR	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	56945	MRPS22	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	56945	MRPS22	OMIM:618117
HP:0025132	Abnormal circulating estrogen level	9150	CTDP1	OMIM:604168
HP:0025132	Abnormal circulating estrogen level	7516	XRCC2	OMIM:619146
HP:0025132	Abnormal circulating estrogen level	2488	FSHB	ORPHA:52901
HP:0025132	Abnormal circulating estrogen level	2661	GDF9	OMIM:618014
HP:0025132	Abnormal circulating estrogen level	389549	FEZF1	OMIM:616030
HP:0025132	Abnormal circulating estrogen level	1528	CYB5A	ORPHA:90796
HP:0025132	Abnormal circulating estrogen level	1586	CYP17A1	ORPHA:90796
HP:0025132	Abnormal circulating estrogen level	23395	LARS2	OMIM:615300
HP:0025132	Abnormal circulating estrogen level	3953	LEPR	ORPHA:179494
HP:0025132	Abnormal circulating estrogen level	6662	SOX9	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	6845	VAMP7	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	51741	WWOX	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	4214	MAP3K1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	58524	DMRT3	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	57647	DHX37	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	6736	SRY	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	23414	ZFPM2	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	190	NR0B1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	2626	GATA4	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	3952	LEP	ORPHA:66628
HP:0025132	Abnormal circulating estrogen level	10371	SEMA3A	OMIM:614897
HP:0025132	Abnormal circulating estrogen level	10734	STAG3	OMIM:615723
HP:0025132	Abnormal circulating estrogen level	668	FOXL2	ORPHA:572333
HP:0025132	Abnormal circulating estrogen level	50846	DHH	ORPHA:168563
HP:0025132	Abnormal circulating estrogen level	367	AR	ORPHA:90797
HP:0025132	Abnormal circulating estrogen level	54766	BTG4	OMIM:619009
HP:0025132	Abnormal circulating estrogen level	11128	POLR3A	ORPHA:3455
HP:0025132	Abnormal circulating estrogen level	2099	ESR1	OMIM:615363
HP:0025132	Abnormal circulating estrogen level	84133	ZNRF3	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	7157	TP53	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	5573	PRKAR1A	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	1499	CTNNB1	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	1029	CDKN2A	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	7015	TERT	ORPHA:1501
HP:0025133	Abnormal serum estradiol	254394	MCM9	OMIM:616185
HP:0025133	Abnormal serum estradiol	402381	SOHLH1	OMIM:617690
HP:0025133	Abnormal serum estradiol	79625	NDNF	OMIM:618841
HP:0025133	Abnormal serum estradiol	2100	ESR2	OMIM:618187
HP:0025133	Abnormal serum estradiol	2796	GNRH1	OMIM:614841
HP:0025133	Abnormal serum estradiol	3814	KISS1	OMIM:614842
HP:0025133	Abnormal serum estradiol	8314	BAP1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	4771	NF2	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6598	SMARCB1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	5155	PDGFB	ORPHA:2495
HP:0025133	Abnormal serum estradiol	84231	TRAF7	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6608	SMO	ORPHA:2495
HP:0025133	Abnormal serum estradiol	207	AKT1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	5290	PIK3CA	ORPHA:2495
HP:0025133	Abnormal serum estradiol	51684	SUFU	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6605	SMARCE1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	646	BNC1	OMIM:618723
HP:0025133	Abnormal serum estradiol	646	BNC1	ORPHA:243
HP:0025133	Abnormal serum estradiol	125150	ZSWIM7	OMIM:619834
HP:0025133	Abnormal serum estradiol	125150	ZSWIM7	ORPHA:243
HP:0025133	Abnormal serum estradiol	80067	DCAF17	ORPHA:3464
HP:0025133	Abnormal serum estradiol	7490	WT1	ORPHA:347
HP:0025133	Abnormal serum estradiol	7490	WT1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	5447	POR	ORPHA:95699
HP:0025133	Abnormal serum estradiol	29893	PSMC3IP	ORPHA:243
HP:0025133	Abnormal serum estradiol	171568	POLR3H	ORPHA:243
HP:0025133	Abnormal serum estradiol	2516	NR5A1	ORPHA:243
HP:0025133	Abnormal serum estradiol	2516	NR5A1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	9210	BMP15	ORPHA:243
HP:0025133	Abnormal serum estradiol	57122	NUP107	ORPHA:243
HP:0025133	Abnormal serum estradiol	23514	SPIDR	ORPHA:243
HP:0025133	Abnormal serum estradiol	23514	SPIDR	OMIM:619665
HP:0025133	Abnormal serum estradiol	2492	FSHR	ORPHA:243
HP:0025133	Abnormal serum estradiol	56945	MRPS22	ORPHA:243
HP:0025133	Abnormal serum estradiol	56945	MRPS22	OMIM:618117
HP:0025133	Abnormal serum estradiol	9150	CTDP1	OMIM:604168
HP:0025133	Abnormal serum estradiol	7516	XRCC2	OMIM:619146
HP:0025133	Abnormal serum estradiol	2488	FSHB	ORPHA:52901
HP:0025133	Abnormal serum estradiol	2661	GDF9	OMIM:618014
HP:0025133	Abnormal serum estradiol	389549	FEZF1	OMIM:616030
HP:0025133	Abnormal serum estradiol	1528	CYB5A	ORPHA:90796
HP:0025133	Abnormal serum estradiol	1586	CYP17A1	ORPHA:90796
HP:0025133	Abnormal serum estradiol	23395	LARS2	OMIM:615300
HP:0025133	Abnormal serum estradiol	3953	LEPR	ORPHA:179494
HP:0025133	Abnormal serum estradiol	6662	SOX9	ORPHA:251510
HP:0025133	Abnormal serum estradiol	6845	VAMP7	ORPHA:251510
HP:0025133	Abnormal serum estradiol	51741	WWOX	ORPHA:251510
HP:0025133	Abnormal serum estradiol	4214	MAP3K1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	58524	DMRT3	ORPHA:251510
HP:0025133	Abnormal serum estradiol	57647	DHX37	ORPHA:251510
HP:0025133	Abnormal serum estradiol	6736	SRY	ORPHA:251510
HP:0025133	Abnormal serum estradiol	23414	ZFPM2	ORPHA:251510
HP:0025133	Abnormal serum estradiol	190	NR0B1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	2626	GATA4	ORPHA:251510
HP:0025133	Abnormal serum estradiol	3952	LEP	ORPHA:66628
HP:0025133	Abnormal serum estradiol	10371	SEMA3A	OMIM:614897
HP:0025133	Abnormal serum estradiol	10734	STAG3	OMIM:615723
HP:0025133	Abnormal serum estradiol	668	FOXL2	ORPHA:572333
HP:0025133	Abnormal serum estradiol	50846	DHH	ORPHA:168563
HP:0025133	Abnormal serum estradiol	367	AR	ORPHA:90797
HP:0025133	Abnormal serum estradiol	367	AR	ORPHA:99429
HP:0025133	Abnormal serum estradiol	11128	POLR3A	ORPHA:3455
HP:0025133	Abnormal serum estradiol	2099	ESR1	OMIM:615363
HP:0025133	Abnormal serum estradiol	84133	ZNRF3	ORPHA:1501
HP:0025133	Abnormal serum estradiol	7157	TP53	ORPHA:1501
HP:0025133	Abnormal serum estradiol	5573	PRKAR1A	ORPHA:1501
HP:0025133	Abnormal serum estradiol	1499	CTNNB1	ORPHA:1501
HP:0025133	Abnormal serum estradiol	1029	CDKN2A	ORPHA:1501
HP:0025133	Abnormal serum estradiol	7015	TERT	ORPHA:1501
HP:0025134	Increased serum estradiol	367	AR	ORPHA:90797
HP:0025134	Increased serum estradiol	367	AR	ORPHA:99429
HP:0025134	Increased serum estradiol	11128	POLR3A	ORPHA:3455
HP:0025134	Increased serum estradiol	2099	ESR1	OMIM:615363
HP:0025134	Increased serum estradiol	84133	ZNRF3	ORPHA:1501
HP:0025134	Increased serum estradiol	7157	TP53	ORPHA:1501
HP:0025134	Increased serum estradiol	5573	PRKAR1A	ORPHA:1501
HP:0025134	Increased serum estradiol	1499	CTNNB1	ORPHA:1501
HP:0025134	Increased serum estradiol	1029	CDKN2A	ORPHA:1501
HP:0025134	Increased serum estradiol	7015	TERT	ORPHA:1501
HP:0025142	Constitutional symptom	55906	ZC4H2	OMIM:301041
HP:0025142	Constitutional symptom	6513	SLC2A1	ORPHA:64280
HP:0025142	Constitutional symptom	2562	GABRB3	ORPHA:64280
HP:0025142	Constitutional symptom	2554	GABRA1	ORPHA:64280
HP:0025142	Constitutional symptom	8912	CACNA1H	ORPHA:64280
HP:0025142	Constitutional symptom	8629	JRK	ORPHA:64280
HP:0025142	Constitutional symptom	2566	GABRG2	ORPHA:64280
HP:0025142	Constitutional symptom	23394	ADNP	ORPHA:404448
HP:0025142	Constitutional symptom	9897	WASHC5	ORPHA:100989
HP:0025142	Constitutional symptom	9897	WASHC5	OMIM:603563
HP:0025142	Constitutional symptom	10466	COG5	ORPHA:263487
HP:0025142	Constitutional symptom	340533	NEXMIF	OMIM:300912
HP:0025142	Constitutional symptom	123606	NIPA1	ORPHA:100988
HP:0025142	Constitutional symptom	123606	NIPA1	OMIM:600363
HP:0025142	Constitutional symptom	23446	SLC44A1	OMIM:618868
HP:0025142	Constitutional symptom	57704	GBA2	ORPHA:352641
HP:0025142	Constitutional symptom	57704	GBA2	ORPHA:320391
HP:0025142	Constitutional symptom	57704	GBA2	OMIM:614409
HP:0025142	Constitutional symptom	1786	DNMT1	ORPHA:314404
HP:0025142	Constitutional symptom	4803	NGF	OMIM:608654
HP:0025142	Constitutional symptom	57216	VANGL2	OMIM:182940
HP:0025142	Constitutional symptom	6347	CCL2	OMIM:182940
HP:0025142	Constitutional symptom	81839	VANGL1	OMIM:182940
HP:0025142	Constitutional symptom	6862	TBXT	OMIM:182940
HP:0025142	Constitutional symptom	80199	FUZ	OMIM:182940
HP:0025142	Constitutional symptom	3074	HEXB	ORPHA:309162
HP:0025142	Constitutional symptom	3074	HEXB	OMIM:268800
HP:0025142	Constitutional symptom	10479	SLC9A6	OMIM:300243
HP:0025142	Constitutional symptom	81790	RNF170	OMIM:619686
HP:0025142	Constitutional symptom	25814	ATXN10	OMIM:603516
HP:0025142	Constitutional symptom	5610	EIF2AK2	OMIM:618877
HP:0025142	Constitutional symptom	128486	FITM2	OMIM:618635
HP:0025142	Constitutional symptom	2581	GALC	ORPHA:206448
HP:0025142	Constitutional symptom	3508	IGHMBP2	OMIM:604320
HP:0025142	Constitutional symptom	100996717	NOTCH2NLC	OMIM:603472
HP:0025142	Constitutional symptom	6904	TBCD	ORPHA:496641
HP:0025142	Constitutional symptom	6904	TBCD	OMIM:617193
HP:0025142	Constitutional symptom	90161	HS6ST2	OMIM:301025
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309271
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309263
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309256
HP:0025142	Constitutional symptom	410	ARSA	OMIM:250100
HP:0025142	Constitutional symptom	2590	GALNT2	OMIM:618885
HP:0025142	Constitutional symptom	51319	RSRC1	OMIM:618402
HP:0025142	Constitutional symptom	54463	RETREG1	OMIM:613115
HP:0025142	Constitutional symptom	6575	SLC20A2	OMIM:213600
HP:0025142	Constitutional symptom	5159	PDGFRB	OMIM:213600
HP:0025142	Constitutional symptom	549	AUH	OMIM:250950
HP:0025142	Constitutional symptom	80208	SPG11	OMIM:602099
HP:0025142	Constitutional symptom	80208	SPG11	ORPHA:300605
HP:0025142	Constitutional symptom	80208	SPG11	OMIM:604360
HP:0025142	Constitutional symptom	7276	TTR	OMIM:105210
HP:0025142	Constitutional symptom	823	CAPN1	OMIM:616907
HP:0025142	Constitutional symptom	10273	STUB1	OMIM:618093
HP:0025142	Constitutional symptom	2632	GBE1	ORPHA:206583
HP:0025142	Constitutional symptom	2632	GBE1	OMIM:263570
HP:0025142	Constitutional symptom	1137	CHRNA4	ORPHA:98784
HP:0025142	Constitutional symptom	57010	CABP4	ORPHA:98784
HP:0025142	Constitutional symptom	1141	CHRNB2	ORPHA:98784
HP:0025142	Constitutional symptom	57582	KCNT1	ORPHA:98784
HP:0025142	Constitutional symptom	1392	CRH	ORPHA:98784
HP:0025142	Constitutional symptom	9681	DEPDC5	ORPHA:98784
HP:0025142	Constitutional symptom	57531	HACE1	ORPHA:464282
HP:0025142	Constitutional symptom	9420	CYP7B1	OMIM:270800
HP:0025142	Constitutional symptom	6687	SPG7	OMIM:607259
HP:0025142	Constitutional symptom	26278	SACS	ORPHA:98
HP:0025142	Constitutional symptom	9839	ZEB2	ORPHA:261552
HP:0025142	Constitutional symptom	9839	ZEB2	ORPHA:261537
HP:0025142	Constitutional symptom	9860	LRIG2	ORPHA:2704
HP:0025142	Constitutional symptom	60495	HPSE2	ORPHA:2704
HP:0025142	Constitutional symptom	9907	AP5Z1	OMIM:613647
HP:0025142	Constitutional symptom	9907	AP5Z1	ORPHA:306511
HP:0025142	Constitutional symptom	79152	FA2H	OMIM:612319
HP:0025142	Constitutional symptom	79152	FA2H	ORPHA:171629
HP:0025142	Constitutional symptom	4747	NEFL	ORPHA:101085
HP:0025142	Constitutional symptom	6908	TBP	OMIM:607136
HP:0025142	Constitutional symptom	3752	KCND3	ORPHA:98772
HP:0025142	Constitutional symptom	2261	FGFR3	OMIM:616482
HP:0025142	Constitutional symptom	56978	PRDM8	OMIM:616640
HP:0025142	Constitutional symptom	23259	DDHD2	OMIM:615033
HP:0025142	Constitutional symptom	92609	TIMM50	OMIM:617698
HP:0025142	Constitutional symptom	92609	TIMM50	ORPHA:505216
HP:0025142	Constitutional symptom	54796	BNC2	ORPHA:93110
HP:0025142	Constitutional symptom	54796	BNC2	OMIM:618612
HP:0025142	Constitutional symptom	3748	KCNC3	ORPHA:98768
HP:0025142	Constitutional symptom	80025	PANK2	OMIM:234200
HP:0025142	Constitutional symptom	724066	ATXN8	ORPHA:98760
HP:0025142	Constitutional symptom	6315	ATXN8OS	ORPHA:98760
HP:0025142	Constitutional symptom	23503	ZFYVE26	OMIM:270700
HP:0025142	Constitutional symptom	51611	DPH5	OMIM:620070
HP:0025142	Constitutional symptom	283446	MYO1H	OMIM:619482
HP:0025142	Constitutional symptom	10280	SIGMAR1	ORPHA:300605
HP:0025142	Constitutional symptom	57679	ALS2	ORPHA:300605
HP:0025142	Constitutional symptom	57679	ALS2	OMIM:205100
HP:0025142	Constitutional symptom	57679	ALS2	OMIM:607225
HP:0025142	Constitutional symptom	6305	SBF1	OMIM:615284
HP:0025142	Constitutional symptom	7750	ZMYM2	OMIM:619522
HP:0025142	Constitutional symptom	6253	RTN2	OMIM:604805
HP:0025142	Constitutional symptom	6253	RTN2	ORPHA:100993
HP:0025142	Constitutional symptom	10667	FARS2	ORPHA:466722
HP:0025142	Constitutional symptom	8913	CACNA1G	ORPHA:458803
HP:0025142	Constitutional symptom	8913	CACNA1G	OMIM:616795
HP:0025142	Constitutional symptom	1315	COPB1	OMIM:619255
HP:0025142	Constitutional symptom	2678	GGT1	OMIM:231950
HP:0025142	Constitutional symptom	3329	HSPD1	OMIM:605280
HP:0025142	Constitutional symptom	3329	HSPD1	ORPHA:100994
HP:0025142	Constitutional symptom	8799	PEX11B	OMIM:614920
HP:0025142	Constitutional symptom	9757	KMT2B	OMIM:619934
HP:0025142	Constitutional symptom	6683	SPAST	OMIM:182601
HP:0025142	Constitutional symptom	3110	MNX1	OMIM:176450
HP:0025142	Constitutional symptom	6509	SLC1A4	ORPHA:447997
HP:0025142	Constitutional symptom	84188	FAR1	ORPHA:447753
HP:0025142	Constitutional symptom	84978	FRMD5	OMIM:620094
HP:0025142	Constitutional symptom	51271	UBAP1	ORPHA:100993
HP:0025142	Constitutional symptom	5654	HTRA1	OMIM:600142
HP:0025142	Constitutional symptom	126129	CPT1C	ORPHA:444099
HP:0025142	Constitutional symptom	80217	CFAP43	OMIM:236690
HP:0025142	Constitutional symptom	170302	ARX	OMIM:300419
HP:0025142	Constitutional symptom	57165	GJC2	OMIM:613206
HP:0025142	Constitutional symptom	3798	KIF5A	OMIM:604187
HP:0025142	Constitutional symptom	55081	IFT57	OMIM:617927
HP:0025142	Constitutional symptom	5133	PDCD1	OMIM:126200
HP:0025142	Constitutional symptom	1374	CPT1A	ORPHA:156
HP:0025142	Constitutional symptom	282996	RBM20	OMIM:613172
HP:0025142	Constitutional symptom	7168	TPM1	OMIM:115196
HP:0025142	Constitutional symptom	4607	MYBPC3	OMIM:115197
HP:0025142	Constitutional symptom	9992	KCNE2	OMIM:613693
HP:0025142	Constitutional symptom	9992	KCNE2	ORPHA:101016
HP:0025142	Constitutional symptom	8048	CSRP3	OMIM:612124
HP:0025142	Constitutional symptom	7454	WAS	ORPHA:906
HP:0025142	Constitutional symptom	7456	WIPF1	ORPHA:906
HP:0025142	Constitutional symptom	3757	KCNH2	OMIM:609620
HP:0025142	Constitutional symptom	3757	KCNH2	ORPHA:101016
HP:0025142	Constitutional symptom	3757	KCNH2	OMIM:613688
HP:0025142	Constitutional symptom	3757	KCNH2	ORPHA:51083
HP:0025142	Constitutional symptom	7134	TNNC1	OMIM:611879
HP:0025142	Constitutional symptom	6262	RYR2	OMIM:604772
HP:0025142	Constitutional symptom	6262	RYR2	ORPHA:3286
HP:0025142	Constitutional symptom	6262	RYR2	OMIM:115000
HP:0025142	Constitutional symptom	10345	TRDN	OMIM:604772
HP:0025142	Constitutional symptom	10345	TRDN	ORPHA:101016
HP:0025142	Constitutional symptom	10345	TRDN	ORPHA:3286
HP:0025142	Constitutional symptom	7043	TGFB3	OMIM:107970
HP:0025142	Constitutional symptom	4040	LRP6	OMIM:610947
HP:0025142	Constitutional symptom	10021	HCN4	OMIM:163800
HP:0025142	Constitutional symptom	79188	TMEM43	OMIM:604400
HP:0025142	Constitutional symptom	79188	TMEM43	ORPHA:98853
HP:0025142	Constitutional symptom	80206	FHOD3	OMIM:619402
HP:0025142	Constitutional symptom	1829	DSG2	OMIM:610193
HP:0025142	Constitutional symptom	27068	PPA2	OMIM:617222
HP:0025142	Constitutional symptom	287	ANK2	OMIM:600919
HP:0025142	Constitutional symptom	287	ANK2	ORPHA:101016
HP:0025142	Constitutional symptom	131118	DNAJC19	OMIM:610198
HP:0025142	Constitutional symptom	1824	DSC2	OMIM:610476
HP:0025142	Constitutional symptom	54800	KLHL24	OMIM:620236
HP:0025142	Constitutional symptom	11155	LDB3	OMIM:601493
HP:0025142	Constitutional symptom	26154	ABCA12	ORPHA:457
HP:0025142	Constitutional symptom	7139	TNNT2	OMIM:601494
HP:0025142	Constitutional symptom	6508	SLC4A3	OMIM:620231
HP:0025142	Constitutional symptom	6508	SLC4A3	ORPHA:51083
HP:0025142	Constitutional symptom	3762	KCNJ5	ORPHA:101016
HP:0025142	Constitutional symptom	805	CALM2	ORPHA:101016
HP:0025142	Constitutional symptom	805	CALM2	ORPHA:3286
HP:0025142	Constitutional symptom	6910	TBX5	ORPHA:101016
HP:0025142	Constitutional symptom	6336	SCN10A	ORPHA:101016
HP:0025142	Constitutional symptom	10142	AKAP9	ORPHA:101016
HP:0025142	Constitutional symptom	9722	NOS1AP	ORPHA:101016
HP:0025142	Constitutional symptom	6330	SCN4B	ORPHA:101016
HP:0025142	Constitutional symptom	6330	SCN4B	OMIM:611819
HP:0025142	Constitutional symptom	808	CALM3	ORPHA:101016
HP:0025142	Constitutional symptom	808	CALM3	ORPHA:3286
HP:0025142	Constitutional symptom	6640	SNTA1	ORPHA:101016
HP:0025142	Constitutional symptom	4633	MYL2	OMIM:608758
HP:0025142	Constitutional symptom	7137	TNNI3	OMIM:115210
HP:0025142	Constitutional symptom	9631	NUP155	OMIM:615770
HP:0025142	Constitutional symptom	5318	PKP2	OMIM:609040
HP:0025142	Constitutional symptom	1674	DES	ORPHA:98909
HP:0025142	Constitutional symptom	5236	PGM1	OMIM:614921
HP:0025142	Constitutional symptom	51422	PRKAG2	OMIM:194200
HP:0025142	Constitutional symptom	23171	GPD1L	OMIM:611777
HP:0025142	Constitutional symptom	2010	EMD	OMIM:310300
HP:0025142	Constitutional symptom	2010	EMD	ORPHA:98863
HP:0025142	Constitutional symptom	4634	MYL3	OMIM:608751
HP:0025142	Constitutional symptom	55750	AGK	OMIM:212350
HP:0025142	Constitutional symptom	51778	MYOZ2	OMIM:613838
HP:0025142	Constitutional symptom	2273	FHL1	ORPHA:98863
HP:0025142	Constitutional symptom	23529	CLCF1	ORPHA:1545
HP:0025142	Constitutional symptom	9244	CRLF1	ORPHA:1545
HP:0025142	Constitutional symptom	2771	GNAI2	OMIM:192605
HP:0025142	Constitutional symptom	144245	ALG10B	OMIM:613688
HP:0025142	Constitutional symptom	221496	LEMD2	OMIM:212500
HP:0025142	Constitutional symptom	781	CACNA2D1	ORPHA:51083
HP:0025142	Constitutional symptom	3759	KCNJ2	ORPHA:51083
HP:0025142	Constitutional symptom	1804	DPP6	OMIM:612956
HP:0025142	Constitutional symptom	6444	SGCD	OMIM:606685
HP:0025142	Constitutional symptom	7273	TTN	OMIM:611705
HP:0025142	Constitutional symptom	1832	DSP	OMIM:607450
HP:0025142	Constitutional symptom	23345	SYNE1	ORPHA:98853
HP:0025142	Constitutional symptom	23224	SYNE2	ORPHA:98853
HP:0025142	Constitutional symptom	23118	TAB2	ORPHA:228410
HP:0025142	Constitutional symptom	775	CACNA1C	OMIM:601005
HP:0025142	Constitutional symptom	3728	JUP	OMIM:601214
HP:0025142	Constitutional symptom	7259	TSPYL1	OMIM:608800
HP:0025142	Constitutional symptom	4624	MYH6	OMIM:192600
HP:0025142	Constitutional symptom	4625	MYH7	OMIM:192600
HP:0025142	Constitutional symptom	859	CAV3	OMIM:192600
HP:0025142	Constitutional symptom	85366	MYLK2	OMIM:192600
HP:0025142	Constitutional symptom	253017	TECRL	OMIM:614021
HP:0025142	Constitutional symptom	4638	MYLK	OMIM:613780
HP:0025142	Constitutional symptom	801	CALM1	OMIM:616247
HP:0025142	Constitutional symptom	4088	SMAD3	OMIM:613795
HP:0025142	Constitutional symptom	3265	HRAS	OMIM:218040
HP:0025142	Constitutional symptom	845	CASQ2	OMIM:611938
HP:0025142	Constitutional symptom	2070	EYA4	OMIM:605362
HP:0025142	Constitutional symptom	229	ALDOB	OMIM:229600
HP:0025142	Constitutional symptom	229	ALDOB	ORPHA:469
HP:0025142	Constitutional symptom	8573	CASK	OMIM:300908
HP:0025142	Constitutional symptom	2539	G6PD	OMIM:300908
HP:0025142	Constitutional symptom	5009	OTC	OMIM:311250
HP:0025142	Constitutional symptom	26873	OPLAH	OMIM:260005
HP:0025142	Constitutional symptom	23417	MLYCD	OMIM:248360
HP:0025142	Constitutional symptom	4072	EPCAM	ORPHA:144
HP:0025142	Constitutional symptom	4292	MLH1	ORPHA:144
HP:0025142	Constitutional symptom	5395	PMS2	ORPHA:144
HP:0025142	Constitutional symptom	27030	MLH3	ORPHA:144
HP:0025142	Constitutional symptom	22909	FAN1	ORPHA:144
HP:0025142	Constitutional symptom	7048	TGFBR2	ORPHA:144
HP:0025142	Constitutional symptom	3845	KRAS	ORPHA:144
HP:0025142	Constitutional symptom	3845	KRAS	ORPHA:1333
HP:0025142	Constitutional symptom	2956	MSH6	ORPHA:144
HP:0025142	Constitutional symptom	5378	PMS1	ORPHA:144
HP:0025142	Constitutional symptom	4436	MSH2	ORPHA:144
HP:0025142	Constitutional symptom	215	ABCD1	ORPHA:388
HP:0025142	Constitutional symptom	5979	RET	ORPHA:388
HP:0025142	Constitutional symptom	2668	GDNF	ORPHA:388
HP:0025142	Constitutional symptom	1889	ECE1	ORPHA:388
HP:0025142	Constitutional symptom	6720	SREBF1	ORPHA:388
HP:0025142	Constitutional symptom	1908	EDN3	ORPHA:388
HP:0025142	Constitutional symptom	1908	EDN3	ORPHA:897
HP:0025142	Constitutional symptom	223117	SEMA3D	ORPHA:388
HP:0025142	Constitutional symptom	538	ATP7A	ORPHA:388
HP:0025142	Constitutional symptom	1910	EDNRB	ORPHA:388
HP:0025142	Constitutional symptom	1910	EDNRB	ORPHA:897
HP:0025142	Constitutional symptom	10512	SEMA3C	ORPHA:388
HP:0025142	Constitutional symptom	2064	ERBB2	ORPHA:388
HP:0025142	Constitutional symptom	2065	ERBB3	ORPHA:388
HP:0025142	Constitutional symptom	4902	NRTN	ORPHA:388
HP:0025142	Constitutional symptom	4233	MET	ORPHA:33402
HP:0025142	Constitutional symptom	2130	EWSR1	ORPHA:83469
HP:0025142	Constitutional symptom	7490	WT1	ORPHA:83469
HP:0025142	Constitutional symptom	7490	WT1	ORPHA:654
HP:0025142	Constitutional symptom	7490	WT1	ORPHA:656
HP:0025142	Constitutional symptom	64218	SEMA4A	ORPHA:440437
HP:0025142	Constitutional symptom	657	BMPR1A	ORPHA:440437
HP:0025142	Constitutional symptom	657	BMPR1A	OMIM:174900
HP:0025142	Constitutional symptom	657	BMPR1A	ORPHA:79076
HP:0025142	Constitutional symptom	6224	RPS20	ORPHA:440437
HP:0025142	Constitutional symptom	672	BRCA1	ORPHA:168829
HP:0025142	Constitutional symptom	672	BRCA1	ORPHA:70567
HP:0025142	Constitutional symptom	672	BRCA1	ORPHA:1333
HP:0025142	Constitutional symptom	10686	CLDN16	OMIM:248250
HP:0025142	Constitutional symptom	5498	PPOX	OMIM:176200
HP:0025142	Constitutional symptom	5498	PPOX	ORPHA:79473
HP:0025142	Constitutional symptom	5428	POLG	ORPHA:298
HP:0025142	Constitutional symptom	5428	POLG	OMIM:613662
HP:0025142	Constitutional symptom	5428	POLG	OMIM:603041
HP:0025142	Constitutional symptom	1890	TYMP	ORPHA:298
HP:0025142	Constitutional symptom	1890	TYMP	OMIM:603041
HP:0025142	Constitutional symptom	3980	LIG3	ORPHA:298
HP:0025142	Constitutional symptom	50484	RRM2B	ORPHA:298
HP:0025142	Constitutional symptom	2642	GCGR	OMIM:619290
HP:0025142	Constitutional symptom	2642	GCGR	ORPHA:438274
HP:0025142	Constitutional symptom	2859	GPR35	ORPHA:171
HP:0025142	Constitutional symptom	10507	SEMA4D	ORPHA:171
HP:0025142	Constitutional symptom	4485	MST1	ORPHA:171
HP:0025142	Constitutional symptom	4089	SMAD4	OMIM:174900
HP:0025142	Constitutional symptom	4089	SMAD4	ORPHA:1333
HP:0025142	Constitutional symptom	353	APRT	OMIM:614723
HP:0025142	Constitutional symptom	6794	STK11	OMIM:175200
HP:0025142	Constitutional symptom	6794	STK11	ORPHA:2869
HP:0025142	Constitutional symptom	2492	FSHR	OMIM:608115
HP:0025142	Constitutional symptom	2492	FSHR	ORPHA:64739
HP:0025142	Constitutional symptom	9570	GOSR2	OMIM:620166
HP:0025142	Constitutional symptom	84133	ZNRF3	ORPHA:1501
HP:0025142	Constitutional symptom	7157	TP53	ORPHA:1501
HP:0025142	Constitutional symptom	7157	TP53	ORPHA:1333
HP:0025142	Constitutional symptom	5573	PRKAR1A	ORPHA:1501
HP:0025142	Constitutional symptom	5573	PRKAR1A	ORPHA:520
HP:0025142	Constitutional symptom	1029	CDKN2A	ORPHA:1501
HP:0025142	Constitutional symptom	1029	CDKN2A	ORPHA:1333
HP:0025142	Constitutional symptom	5728	PTEN	ORPHA:79076
HP:0025142	Constitutional symptom	2984	GUCY2C	OMIM:614616
HP:0025142	Constitutional symptom	1244	ABCC2	ORPHA:234
HP:0025142	Constitutional symptom	330	BIRC3	ORPHA:52417
HP:0025142	Constitutional symptom	10892	MALT1	ORPHA:52417
HP:0025142	Constitutional symptom	27086	FOXP1	ORPHA:52417
HP:0025142	Constitutional symptom	3492	IGH	ORPHA:52417
HP:0025142	Constitutional symptom	8915	BCL10	ORPHA:52417
HP:0025142	Constitutional symptom	22900	CARD8	OMIM:619079
HP:0025142	Constitutional symptom	2321	FLT1	ORPHA:275555
HP:0025142	Constitutional symptom	219736	STOX1	ORPHA:275555
HP:0025142	Constitutional symptom	10699	CORIN	ORPHA:275555
HP:0025142	Constitutional symptom	8659	ALDH4A1	ORPHA:79101
HP:0025142	Constitutional symptom	84992	PIGY	OMIM:616809
HP:0025142	Constitutional symptom	11330	CTRC	OMIM:167800
HP:0025142	Constitutional symptom	11330	CTRC	ORPHA:676
HP:0025142	Constitutional symptom	6690	SPINK1	OMIM:167800
HP:0025142	Constitutional symptom	6690	SPINK1	ORPHA:676
HP:0025142	Constitutional symptom	6690	SPINK1	OMIM:608189
HP:0025142	Constitutional symptom	5645	PRSS2	OMIM:167800
HP:0025142	Constitutional symptom	5645	PRSS2	ORPHA:676
HP:0025142	Constitutional symptom	5644	PRSS1	OMIM:167800
HP:0025142	Constitutional symptom	5644	PRSS1	ORPHA:676
HP:0025142	Constitutional symptom	5205	ATP8B1	ORPHA:69665
HP:0025142	Constitutional symptom	8647	ABCB11	ORPHA:69665
HP:0025142	Constitutional symptom	5244	ABCB4	ORPHA:69665
HP:0025142	Constitutional symptom	9971	NR1H4	ORPHA:69665
HP:0025142	Constitutional symptom	6288	SAA1	ORPHA:85445
HP:0025142	Constitutional symptom	11231	SEC63	ORPHA:2924
HP:0025142	Constitutional symptom	5589	PRKCSH	ORPHA:2924
HP:0025142	Constitutional symptom	2521	FUS	ORPHA:99967
HP:0025142	Constitutional symptom	1649	DDIT3	ORPHA:99967
HP:0025142	Constitutional symptom	19	ABCA1	ORPHA:31150
HP:0025142	Constitutional symptom	7234	TRU-TCA1-1	OMIM:620198
HP:0025142	Constitutional symptom	9968	MED12	OMIM:301068
HP:0025142	Constitutional symptom	2153	F5	ORPHA:131
HP:0025142	Constitutional symptom	5885	RAD21	OMIM:611376
HP:0025142	Constitutional symptom	11181	TREH	ORPHA:103909
HP:0025142	Constitutional symptom	11181	TREH	OMIM:612119
HP:0025142	Constitutional symptom	9780	PIEZO1	ORPHA:3202
HP:0025142	Constitutional symptom	3783	KCNN4	ORPHA:3202
HP:0025142	Constitutional symptom	710	SERPING1	OMIM:106100
HP:0025142	Constitutional symptom	710	SERPING1	ORPHA:100050
HP:0025142	Constitutional symptom	10312	TCIRG1	ORPHA:486
HP:0025142	Constitutional symptom	1991	ELANE	ORPHA:486
HP:0025142	Constitutional symptom	1991	ELANE	ORPHA:2686
HP:0025142	Constitutional symptom	2672	GFI1	ORPHA:486
HP:0025142	Constitutional symptom	6729	SRP54	ORPHA:486
HP:0025142	Constitutional symptom	81570	CLPB	ORPHA:486
HP:0025142	Constitutional symptom	6476	SI	OMIM:222900
HP:0025142	Constitutional symptom	2000	ELF4	OMIM:301074
HP:0025142	Constitutional symptom	165918	RNF168	ORPHA:420741
HP:0025142	Constitutional symptom	4594	MMUT	ORPHA:79312
HP:0025142	Constitutional symptom	2629	GBA1	ORPHA:77259
HP:0025142	Constitutional symptom	950	SCARB2	ORPHA:77259
HP:0025142	Constitutional symptom	4175	MCM6	OMIM:223100
HP:0025142	Constitutional symptom	846	CASR	ORPHA:428
HP:0025142	Constitutional symptom	846	CASR	ORPHA:676
HP:0025142	Constitutional symptom	1776	DNASE1L3	ORPHA:36412
HP:0025142	Constitutional symptom	2258	FGF13	OMIM:301058
HP:0025142	Constitutional symptom	4609	MYC	ORPHA:543
HP:0025142	Constitutional symptom	23095	KIF1B	OMIM:256700
HP:0025142	Constitutional symptom	675	BRCA2	ORPHA:70567
HP:0025142	Constitutional symptom	675	BRCA2	ORPHA:654
HP:0025142	Constitutional symptom	675	BRCA2	ORPHA:1333
HP:0025142	Constitutional symptom	5774	PTPN3	ORPHA:70567
HP:0025142	Constitutional symptom	7248	TSC1	ORPHA:538
HP:0025142	Constitutional symptom	7249	TSC2	ORPHA:538
HP:0025142	Constitutional symptom	4286	MITF	ORPHA:897
HP:0025142	Constitutional symptom	6663	SOX10	ORPHA:897
HP:0025142	Constitutional symptom	6663	SOX10	ORPHA:163746
HP:0025142	Constitutional symptom	5978	REST	ORPHA:654
HP:0025142	Constitutional symptom	129563	DIS3L2	ORPHA:654
HP:0025142	Constitutional symptom	9319	TRIP13	ORPHA:654
HP:0025142	Constitutional symptom	10155	TRIM28	ORPHA:654
HP:0025142	Constitutional symptom	11281	POU6F2	ORPHA:654
HP:0025142	Constitutional symptom	2719	GPC3	ORPHA:654
HP:0025142	Constitutional symptom	283120	H19	ORPHA:654
HP:0025142	Constitutional symptom	4868	NPHS1	ORPHA:656
HP:0025142	Constitutional symptom	23607	CD2AP	ORPHA:656
HP:0025142	Constitutional symptom	9688	NUP93	ORPHA:656
HP:0025142	Constitutional symptom	4643	MYO1E	ORPHA:656
HP:0025142	Constitutional symptom	64423	INF2	ORPHA:656
HP:0025142	Constitutional symptom	26130	GAPVD1	ORPHA:656
HP:0025142	Constitutional symptom	57122	NUP107	ORPHA:656
HP:0025142	Constitutional symptom	51479	ANKFY1	ORPHA:656
HP:0025142	Constitutional symptom	54443	ANLN	ORPHA:656
HP:0025142	Constitutional symptom	5800	PTPRO	ORPHA:656
HP:0025142	Constitutional symptom	286204	CRB2	ORPHA:656
HP:0025142	Constitutional symptom	23165	NUP205	ORPHA:656
HP:0025142	Constitutional symptom	2013	EMP2	ORPHA:656
HP:0025142	Constitutional symptom	79023	NUP37	ORPHA:656
HP:0025142	Constitutional symptom	51196	PLCE1	ORPHA:656
HP:0025142	Constitutional symptom	79902	NUP85	ORPHA:656
HP:0025142	Constitutional symptom	1285	COL4A3	ORPHA:656
HP:0025142	Constitutional symptom	396	ARHGDIA	ORPHA:656
HP:0025142	Constitutional symptom	79934	COQ8B	ORPHA:656
HP:0025142	Constitutional symptom	23279	NUP160	ORPHA:656
HP:0025142	Constitutional symptom	9863	MAGI2	ORPHA:656
HP:0025142	Constitutional symptom	81	ACTN4	ORPHA:656
HP:0025142	Constitutional symptom	7225	TRPC6	ORPHA:656
HP:0025142	Constitutional symptom	8542	APOL1	ORPHA:656
HP:0025142	Constitutional symptom	54885	TBC1D8B	ORPHA:656
HP:0025142	Constitutional symptom	7827	NPHS2	ORPHA:656
HP:0025142	Constitutional symptom	83478	ARHGAP24	ORPHA:656
HP:0025142	Constitutional symptom	23500	DAAM2	ORPHA:656
HP:0025142	Constitutional symptom	5076	PAX2	ORPHA:656
HP:0025142	Constitutional symptom	55746	NUP133	ORPHA:656
HP:0025142	Constitutional symptom	10320	IKZF1	ORPHA:36426
HP:0025142	Constitutional symptom	10616	RBCK1	OMIM:615895
HP:0025142	Constitutional symptom	1760	DMPK	ORPHA:589821
HP:0025142	Constitutional symptom	285282	RABL3	ORPHA:1333
HP:0025142	Constitutional symptom	79728	PALB2	ORPHA:1333
HP:0025142	Constitutional symptom	23022	PALLD	ORPHA:1333
HP:0025142	Constitutional symptom	1357	CPA1	ORPHA:676
HP:0025142	Constitutional symptom	650	BMP2	OMIM:235200
HP:0025142	Constitutional symptom	54795	TRPM4	ORPHA:871
HP:0025142	Constitutional symptom	1482	NKX2-5	ORPHA:871
HP:0025142	Constitutional symptom	6324	SCN1B	ORPHA:871
HP:0025142	Constitutional symptom	6390	SDHB	ORPHA:97286
HP:0025142	Constitutional symptom	6391	SDHC	ORPHA:97286
HP:0025142	Constitutional symptom	6392	SDHD	ORPHA:97286
HP:0025142	Constitutional symptom	1053	CEBPE	OMIM:260570
HP:0025142	Constitutional symptom	64840	PORCN	ORPHA:2092
HP:0025142	Constitutional symptom	6711	SPTBN1	OMIM:619475
HP:0025142	Constitutional symptom	3257	HPS1	OMIM:203300
HP:0025142	Constitutional symptom	1056	CEL	OMIM:609812
HP:0025142	Constitutional symptom	64711	HS3ST6	OMIM:619367
HP:0025142	Constitutional symptom	10585	POMT1	ORPHA:86812
HP:0025142	Constitutional symptom	3075	CFH	ORPHA:244242
HP:0025142	Constitutional symptom	3426	CFI	ORPHA:244242
HP:0025142	Constitutional symptom	4179	CD46	ORPHA:244242
HP:0025142	Constitutional symptom	101101692	HELLPAR	ORPHA:244242
HP:0025142	Constitutional symptom	5294	PIK3CG	OMIM:619802
HP:0025142	Constitutional symptom	3145	HMBS	OMIM:176000
HP:0025142	Constitutional symptom	3145	HMBS	ORPHA:79276
HP:0025142	Constitutional symptom	7428	VHL	ORPHA:892
HP:0025142	Constitutional symptom	595	CCND1	ORPHA:892
HP:0025142	Constitutional symptom	4221	MEN1	ORPHA:652
HP:0025142	Constitutional symptom	1027	CDKN1B	ORPHA:652
HP:0025142	Constitutional symptom	1026	CDKN1A	ORPHA:652
HP:0025142	Constitutional symptom	1030	CDKN2B	ORPHA:652
HP:0025142	Constitutional symptom	1031	CDKN2C	ORPHA:652
HP:0025142	Constitutional symptom	55898	UNC45A	OMIM:619377
HP:0025142	Constitutional symptom	210	ALAD	ORPHA:100924
HP:0025142	Constitutional symptom	72	ACTG2	OMIM:155310
HP:0025142	Constitutional symptom	1371	CPOX	OMIM:121300
HP:0025142	Constitutional symptom	1371	CPOX	ORPHA:79273
HP:0025142	Constitutional symptom	6850	SYK	OMIM:619381
HP:0025142	Constitutional symptom	6774	STAT3	ORPHA:520
HP:0025142	Constitutional symptom	5371	PML	ORPHA:520
HP:0025142	Constitutional symptom	5914	RARA	ORPHA:520
HP:0025142	Constitutional symptom	81608	FIP1L1	ORPHA:520
HP:0025142	Constitutional symptom	4869	NPM1	ORPHA:520
HP:0025142	Constitutional symptom	54880	BCOR	ORPHA:520
HP:0025142	Constitutional symptom	64859	NABP1	ORPHA:520
HP:0025142	Constitutional symptom	6777	STAT5B	ORPHA:520
HP:0025142	Constitutional symptom	4926	NUMA1	ORPHA:520
HP:0025142	Constitutional symptom	7704	ZBTB16	ORPHA:520
HP:0025142	Constitutional symptom	79718	TBL1XR1	ORPHA:520
HP:0025142	Constitutional symptom	8737	RIPK1	OMIM:618852
HP:0025142	Constitutional symptom	115286	SLC25A26	OMIM:616794
HP:0025142	Constitutional symptom	4689	NCF4	OMIM:613960
HP:0025142	Constitutional symptom	7388	UQCRH	OMIM:620137
HP:0025142	Constitutional symptom	2693	GHSR	ORPHA:314811
HP:0025142	Constitutional symptom	87178	PNPT1	ORPHA:101111
HP:0025142	Constitutional symptom	10020	GNE	ORPHA:3166
HP:0025142	Constitutional symptom	4023	LPL	OMIM:238600
HP:0025142	Constitutional symptom	2099	ESR1	ORPHA:785
HP:0025142	Constitutional symptom	1616	DAXX	ORPHA:100075
HP:0025142	Constitutional symptom	2313	FLI1	ORPHA:370348
HP:0025142	Constitutional symptom	2161	F12	OMIM:610618
HP:0025142	Constitutional symptom	5354	PLP1	ORPHA:99015
HP:0025142	Constitutional symptom	1399	CRKL	ORPHA:261330
HP:0025142	Constitutional symptom	5594	MAPK1	ORPHA:261330
HP:0025142	Constitutional symptom	6299	SALL1	ORPHA:857
HP:0025142	Constitutional symptom	51339	DACT1	ORPHA:857
HP:0025142	Constitutional symptom	8626	TP63	ORPHA:93930
HP:0025142	Constitutional symptom	3670	ISL1	ORPHA:93930
HP:0025142	Constitutional symptom	25778	DSTYK	ORPHA:101003
HP:0025142	Constitutional symptom	10528	NOP56	ORPHA:276198
HP:0025142	Constitutional symptom	7421	VDR	ORPHA:93160
HP:0025142	Constitutional symptom	7421	VDR	OMIM:277440
HP:0025142	Constitutional symptom	1186	CLCN7	ORPHA:667
HP:0025142	Constitutional symptom	1186	CLCN7	ORPHA:53
HP:0025142	Constitutional symptom	29887	SNX10	ORPHA:667
HP:0025142	Constitutional symptom	8600	TNFSF11	ORPHA:667
HP:0025142	Constitutional symptom	8792	TNFRSF11A	OMIM:174810
HP:0025142	Constitutional symptom	8792	TNFRSF11A	OMIM:602080
HP:0025142	Constitutional symptom	1184	CLCN5	OMIM:300009
HP:0025142	Constitutional symptom	1184	CLCN5	OMIM:300554
HP:0025142	Constitutional symptom	120227	CYP2R1	OMIM:600081
HP:0025142	Constitutional symptom	120227	CYP2R1	ORPHA:289157
HP:0025142	Constitutional symptom	2304	FOXE1	ORPHA:319487
HP:0025142	Constitutional symptom	3026	HABP2	ORPHA:319487
HP:0025142	Constitutional symptom	9562	MINPP1	ORPHA:319487
HP:0025142	Constitutional symptom	3418	IDH2	ORPHA:296
HP:0025142	Constitutional symptom	3418	IDH2	ORPHA:163634
HP:0025142	Constitutional symptom	3417	IDH1	ORPHA:296
HP:0025142	Constitutional symptom	3417	IDH1	ORPHA:163634
HP:0025142	Constitutional symptom	5426	POLE	OMIM:615139
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:562
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:2762
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:57782
HP:0025142	Constitutional symptom	1175	AP2S1	OMIM:600740
HP:0025142	Constitutional symptom	1594	CYP27B1	OMIM:264700
HP:0025142	Constitutional symptom	1594	CYP27B1	ORPHA:289157
HP:0025142	Constitutional symptom	7010	TEK	ORPHA:1059
HP:0025142	Constitutional symptom	7471	WNT1	ORPHA:85193
HP:0025142	Constitutional symptom	22943	DKK1	ORPHA:85193
HP:0025142	Constitutional symptom	89780	WNT3A	ORPHA:85193
HP:0025142	Constitutional symptom	5660	PSAP	OMIM:610539
HP:0025142	Constitutional symptom	1588	CYP19A1	ORPHA:91
HP:0025142	Constitutional symptom	8074	FGF23	ORPHA:89937
HP:0025142	Constitutional symptom	8074	FGF23	OMIM:193100
HP:0025142	Constitutional symptom	142680	SLC34A3	OMIM:241530
HP:0025142	Constitutional symptom	142680	SLC34A3	ORPHA:157215
HP:0025142	Constitutional symptom	5781	PTPN11	ORPHA:2499
HP:0025142	Constitutional symptom	189	AGXT	OMIM:259900
HP:0025142	Constitutional symptom	7040	TGFB1	ORPHA:1328
HP:0025142	Constitutional symptom	5345	SERPINF2	ORPHA:79
HP:0025142	Constitutional symptom	6569	SLC34A1	OMIM:613388
HP:0025142	Constitutional symptom	6569	SLC34A1	ORPHA:3337
HP:0025142	Constitutional symptom	6569	SLC34A1	ORPHA:157215
HP:0025142	Constitutional symptom	8878	SQSTM1	OMIM:167250
HP:0025142	Constitutional symptom	1962	EHHADH	ORPHA:3337
HP:0025142	Constitutional symptom	2628	GATM	ORPHA:3337
HP:0025142	Constitutional symptom	137682	NDUFAF6	ORPHA:3337
HP:0025142	Constitutional symptom	1758	DMP1	ORPHA:289176
HP:0025142	Constitutional symptom	57592	ZNF687	OMIM:616833
HP:0025142	Constitutional symptom	50964	SOST	OMIM:269500
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:397
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:85408
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:900
HP:0025142	Constitutional symptom	26191	PTPN22	OMIM:180300
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:397
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:117
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:29207
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:3287
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:397
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:85414
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:220393
HP:0025142	Constitutional symptom	8974	P4HA2	ORPHA:397
HP:0025142	Constitutional symptom	6399	TRAPPC2	ORPHA:93284
HP:0025142	Constitutional symptom	6399	TRAPPC2	OMIM:313400
HP:0025142	Constitutional symptom	90268	OTULIN	OMIM:617099
HP:0025142	Constitutional symptom	144811	LACC1	ORPHA:85414
HP:0025142	Constitutional symptom	4282	MIF	ORPHA:85414
HP:0025142	Constitutional symptom	3569	IL6	ORPHA:85414
HP:0025142	Constitutional symptom	30061	SLC40A1	ORPHA:139491
HP:0025142	Constitutional symptom	30061	SLC40A1	OMIM:606069
HP:0025142	Constitutional symptom	7148	TNXB	ORPHA:230839
HP:0025142	Constitutional symptom	7148	TNXB	OMIM:606408
HP:0025142	Constitutional symptom	3815	KIT	ORPHA:98849
HP:0025142	Constitutional symptom	3248	HPGD	ORPHA:1525
HP:0025142	Constitutional symptom	3248	HPGD	ORPHA:217059
HP:0025142	Constitutional symptom	3248	HPGD	ORPHA:2796
HP:0025142	Constitutional symptom	3248	HPGD	OMIM:259100
HP:0025142	Constitutional symptom	54209	TREM2	OMIM:618193
HP:0025142	Constitutional symptom	54209	TREM2	ORPHA:2770
HP:0025142	Constitutional symptom	6775	STAT4	ORPHA:85408
HP:0025142	Constitutional symptom	6775	STAT4	ORPHA:117
HP:0025142	Constitutional symptom	6775	STAT4	ORPHA:93552
HP:0025142	Constitutional symptom	3560	IL2RB	ORPHA:85408
HP:0025142	Constitutional symptom	79722	ANKRD55	ORPHA:85408
HP:0025142	Constitutional symptom	919	CD247	ORPHA:85408
HP:0025142	Constitutional symptom	3559	IL2RA	ORPHA:85408
HP:0025142	Constitutional symptom	5771	PTPN2	ORPHA:85408
HP:0025142	Constitutional symptom	4210	MEFV	OMIM:249100
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:3243
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:342
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:117
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:329967
HP:0025142	Constitutional symptom	4210	MEFV	OMIM:608068
HP:0025142	Constitutional symptom	4210	MEFV	OMIM:134610
HP:0025142	Constitutional symptom	1300	COL10A1	ORPHA:174
HP:0025142	Constitutional symptom	84572	GNPTG	OMIM:252605
HP:0025142	Constitutional symptom	1280	COL2A1	OMIM:616583
HP:0025142	Constitutional symptom	1280	COL2A1	ORPHA:2380
HP:0025142	Constitutional symptom	1280	COL2A1	ORPHA:90653
HP:0025142	Constitutional symptom	1280	COL2A1	OMIM:108300
HP:0025142	Constitutional symptom	1280	COL2A1	OMIM:604864
HP:0025142	Constitutional symptom	1280	COL2A1	OMIM:609162
HP:0025142	Constitutional symptom	1280	COL2A1	ORPHA:166100
HP:0025142	Constitutional symptom	1280	COL2A1	OMIM:183900
HP:0025142	Constitutional symptom	9469	CHST3	OMIM:143095
HP:0025142	Constitutional symptom	9469	CHST3	ORPHA:263463
HP:0025142	Constitutional symptom	9927	MFN2	ORPHA:2398
HP:0025142	Constitutional symptom	340061	STING1	OMIM:615934
HP:0025142	Constitutional symptom	7132	TNFRSF1A	OMIM:142680
HP:0025142	Constitutional symptom	7132	TNFRSF1A	ORPHA:329967
HP:0025142	Constitutional symptom	7132	TNFRSF1A	ORPHA:32960
HP:0025142	Constitutional symptom	84823	LMNB2	ORPHA:79087
HP:0025142	Constitutional symptom	3117	HLA-DQA1	OMIM:212750
HP:0025142	Constitutional symptom	3119	HLA-DQB1	OMIM:212750
HP:0025142	Constitutional symptom	83550	GPR101	ORPHA:963
HP:0025142	Constitutional symptom	83550	GPR101	OMIM:300942
HP:0025142	Constitutional symptom	9049	AIP	ORPHA:963
HP:0025142	Constitutional symptom	1277	COL1A1	ORPHA:287
HP:0025142	Constitutional symptom	1289	COL5A1	ORPHA:287
HP:0025142	Constitutional symptom	1290	COL5A2	ORPHA:287
HP:0025142	Constitutional symptom	1302	COL11A2	OMIM:184840
HP:0025142	Constitutional symptom	1302	COL11A2	OMIM:215150
HP:0025142	Constitutional symptom	1302	COL11A2	ORPHA:166100
HP:0025142	Constitutional symptom	1836	SLC26A2	OMIM:226900
HP:0025142	Constitutional symptom	1836	SLC26A2	ORPHA:93307
HP:0025142	Constitutional symptom	64127	NOD2	OMIM:617321
HP:0025142	Constitutional symptom	64127	NOD2	ORPHA:90340
HP:0025142	Constitutional symptom	58484	NLRC4	OMIM:616115
HP:0025142	Constitutional symptom	58484	NLRC4	OMIM:616050
HP:0025142	Constitutional symptom	2783	GNB2	OMIM:619503
HP:0025142	Constitutional symptom	4853	NOTCH2	ORPHA:955
HP:0025142	Constitutional symptom	5251	PHEX	ORPHA:89936
HP:0025142	Constitutional symptom	5251	PHEX	OMIM:307800
HP:0025142	Constitutional symptom	3043	HBB	ORPHA:231214
HP:0025142	Constitutional symptom	3043	HBB	ORPHA:231226
HP:0025142	Constitutional symptom	3043	HBB	ORPHA:251380
HP:0025142	Constitutional symptom	51604	PIGT	OMIM:615399
HP:0025142	Constitutional symptom	540	ATP7B	ORPHA:905
HP:0025142	Constitutional symptom	6804	STX1A	ORPHA:904
HP:0025142	Constitutional symptom	7461	CLIP2	ORPHA:904
HP:0025142	Constitutional symptom	84277	DNAJC30	ORPHA:904
HP:0025142	Constitutional symptom	8468	FKBP6	ORPHA:904
HP:0025142	Constitutional symptom	5982	RFC2	ORPHA:904
HP:0025142	Constitutional symptom	2969	GTF2I	ORPHA:904
HP:0025142	Constitutional symptom	3984	LIMK1	ORPHA:904
HP:0025142	Constitutional symptom	9569	GTF2IRD1	ORPHA:904
HP:0025142	Constitutional symptom	155382	VPS37D	ORPHA:904
HP:0025142	Constitutional symptom	155368	METTL27	ORPHA:904
HP:0025142	Constitutional symptom	114049	BUD23	ORPHA:904
HP:0025142	Constitutional symptom	7458	EIF4H	ORPHA:904
HP:0025142	Constitutional symptom	84163	GTF2IRD2	ORPHA:904
HP:0025142	Constitutional symptom	9275	BCL7B	ORPHA:904
HP:0025142	Constitutional symptom	26608	TBL2	ORPHA:904
HP:0025142	Constitutional symptom	653361	NCF1	ORPHA:904
HP:0025142	Constitutional symptom	135886	TMEM270	ORPHA:904
HP:0025142	Constitutional symptom	51085	MLXIPL	ORPHA:904
HP:0025142	Constitutional symptom	9031	BAZ1B	ORPHA:904
HP:0025142	Constitutional symptom	2006	ELN	ORPHA:904
HP:0025142	Constitutional symptom	1493	CTLA4	ORPHA:900
HP:0025142	Constitutional symptom	3115	HLA-DPB1	ORPHA:900
HP:0025142	Constitutional symptom	5657	PRTN3	ORPHA:900
HP:0025142	Constitutional symptom	3113	HLA-DPA1	ORPHA:900
HP:0025142	Constitutional symptom	51284	TLR7	OMIM:301080
HP:0025142	Constitutional symptom	715	C1R	OMIM:130080
HP:0025142	Constitutional symptom	8838	CCN6	ORPHA:1159
HP:0025142	Constitutional symptom	5336	PLCG2	OMIM:614878
HP:0025142	Constitutional symptom	3662	IRF4	ORPHA:3452
HP:0025142	Constitutional symptom	5692	PSMB4	OMIM:617591
HP:0025142	Constitutional symptom	5698	PSMB9	OMIM:617591
HP:0025142	Constitutional symptom	2157	F8	ORPHA:169805
HP:0025142	Constitutional symptom	2157	F8	ORPHA:169802
HP:0025142	Constitutional symptom	654	BMP6	ORPHA:465508
HP:0025142	Constitutional symptom	654	BMP6	OMIM:620121
HP:0025142	Constitutional symptom	3077	HFE	ORPHA:465508
HP:0025142	Constitutional symptom	4087	SMAD2	OMIM:619656
HP:0025142	Constitutional symptom	7415	VCP	ORPHA:329475
HP:0025142	Constitutional symptom	100151683	RNU4ATAC	ORPHA:1824
HP:0025142	Constitutional symptom	6583	SLC22A4	OMIM:180300
HP:0025142	Constitutional symptom	4261	CIITA	OMIM:180300
HP:0025142	Constitutional symptom	51744	CD244	OMIM:180300
HP:0025142	Constitutional symptom	4795	NFKBIL1	OMIM:180300
HP:0025142	Constitutional symptom	3586	IL10	OMIM:180300
HP:0025142	Constitutional symptom	3586	IL10	ORPHA:117
HP:0025142	Constitutional symptom	3514	IGKC	ORPHA:183675
HP:0025142	Constitutional symptom	3501	IGHG2	ORPHA:183675
HP:0025142	Constitutional symptom	64241	ABCG8	OMIM:210250
HP:0025142	Constitutional symptom	64241	ABCG8	ORPHA:391665
HP:0025142	Constitutional symptom	4313	MMP2	OMIM:259600
HP:0025142	Constitutional symptom	3081	HGD	ORPHA:56
HP:0025142	Constitutional symptom	3081	HGD	OMIM:203500
HP:0025142	Constitutional symptom	10801	SEPTIN9	ORPHA:2901
HP:0025142	Constitutional symptom	7227	TRPS1	OMIM:190350
HP:0025142	Constitutional symptom	6307	MSMO1	OMIM:616834
HP:0025142	Constitutional symptom	1188	CLCNKB	ORPHA:358
HP:0025142	Constitutional symptom	6559	SLC12A3	ORPHA:358
HP:0025142	Constitutional symptom	6559	SLC12A3	OMIM:263800
HP:0025142	Constitutional symptom	2068	ERCC2	ORPHA:910
HP:0025142	Constitutional symptom	7507	XPA	ORPHA:910
HP:0025142	Constitutional symptom	2071	ERCC3	ORPHA:910
HP:0025142	Constitutional symptom	7508	XPC	ORPHA:910
HP:0025142	Constitutional symptom	1643	DDB2	ORPHA:910
HP:0025142	Constitutional symptom	2072	ERCC4	ORPHA:910
HP:0025142	Constitutional symptom	2073	ERCC5	ORPHA:910
HP:0025142	Constitutional symptom	149233	IL23R	ORPHA:117
HP:0025142	Constitutional symptom	1230	CCR1	ORPHA:117
HP:0025142	Constitutional symptom	355	FAS	ORPHA:117
HP:0025142	Constitutional symptom	3592	IL12A	ORPHA:117
HP:0025142	Constitutional symptom	101928376	IL12A-AS1	ORPHA:117
HP:0025142	Constitutional symptom	7099	TLR4	ORPHA:117
HP:0025142	Constitutional symptom	3459	IFNGR1	ORPHA:117
HP:0025142	Constitutional symptom	720	C4A	ORPHA:117
HP:0025142	Constitutional symptom	337867	UBAC2	ORPHA:117
HP:0025142	Constitutional symptom	51752	ERAP1	ORPHA:117
HP:0025142	Constitutional symptom	8302	KLRC4	ORPHA:117
HP:0025142	Constitutional symptom	9663	LPIN2	OMIM:609628
HP:0025142	Constitutional symptom	9663	LPIN2	ORPHA:77297
HP:0025142	Constitutional symptom	23592	LEMD3	ORPHA:166119
HP:0025142	Constitutional symptom	23592	LEMD3	ORPHA:1306
HP:0025142	Constitutional symptom	6696	SPP1	ORPHA:93552
HP:0025142	Constitutional symptom	3654	IRAK1	ORPHA:93552
HP:0025142	Constitutional symptom	2057	EPOR	ORPHA:90042
HP:0025142	Constitutional symptom	411	ARSB	OMIM:253200
HP:0025142	Constitutional symptom	53335	BCL11A	ORPHA:251380
HP:0025142	Constitutional symptom	10661	KLF1	ORPHA:251380
HP:0025142	Constitutional symptom	3047	HBG1	ORPHA:251380
HP:0025142	Constitutional symptom	3048	HBG2	ORPHA:251380
HP:0025142	Constitutional symptom	7317	UBA1	OMIM:301054
HP:0025142	Constitutional symptom	4000	LMNA	ORPHA:90153
HP:0025142	Constitutional symptom	10651	MTX2	ORPHA:90153
HP:0025142	Constitutional symptom	3949	LDLR	ORPHA:391665
HP:0025142	Constitutional symptom	255738	PCSK9	ORPHA:391665
HP:0025142	Constitutional symptom	26119	LDLRAP1	ORPHA:391665
HP:0025142	Constitutional symptom	338	APOB	ORPHA:391665
HP:0025142	Constitutional symptom	64240	ABCG5	ORPHA:391665
HP:0025142	Constitutional symptom	427	ASAH1	ORPHA:333
HP:0025142	Constitutional symptom	427	ASAH1	OMIM:228000
HP:0025142	Constitutional symptom	4621	MYH3	OMIM:193700
HP:0025142	Constitutional symptom	3930	LBR	OMIM:613471
HP:0025142	Constitutional symptom	29940	DSE	OMIM:615539
HP:0025142	Constitutional symptom	2717	GLA	ORPHA:324
HP:0025142	Constitutional symptom	6578	SLCO2A1	ORPHA:2796
HP:0025142	Constitutional symptom	5745	PTH1R	ORPHA:79106
HP:0025142	Constitutional symptom	1301	COL11A1	ORPHA:560
HP:0025142	Constitutional symptom	23495	TNFRSF13B	ORPHA:1572
HP:0025142	Constitutional symptom	4790	NFKB1	ORPHA:1572
HP:0025142	Constitutional symptom	4791	NFKB2	ORPHA:1572
HP:0025142	Constitutional symptom	115650	TNFRSF13C	ORPHA:1572
HP:0025142	Constitutional symptom	8742	TNFSF12	ORPHA:1572
HP:0025142	Constitutional symptom	5580	PRKCD	ORPHA:1572
HP:0025142	Constitutional symptom	930	CD19	ORPHA:1572
HP:0025142	Constitutional symptom	29851	ICOS	ORPHA:1572
HP:0025142	Constitutional symptom	931	MS4A1	ORPHA:1572
HP:0025142	Constitutional symptom	975	CD81	ORPHA:1572
HP:0025142	Constitutional symptom	975	CD81	OMIM:613496
HP:0025142	Constitutional symptom	359948	IRF2BP2	ORPHA:1572
HP:0025142	Constitutional symptom	1499	CTNNB1	ORPHA:873
HP:0025142	Constitutional symptom	324	APC	ORPHA:873
HP:0025142	Constitutional symptom	6424	SFRP4	OMIM:265900
HP:0025142	Constitutional symptom	716	C1S	OMIM:617174
HP:0025142	Constitutional symptom	5167	ENPP1	ORPHA:51608
HP:0025142	Constitutional symptom	368	ABCC6	ORPHA:51608
HP:0025142	Constitutional symptom	55325	UFSP2	OMIM:617974
HP:0025142	Constitutional symptom	91461	PKDCC	OMIM:618821
HP:0025142	Constitutional symptom	7305	TYROBP	ORPHA:2770
HP:0025142	Constitutional symptom	65992	DDRGK1	ORPHA:93352
HP:0025142	Constitutional symptom	1314	COPA	OMIM:616414
HP:0025142	Constitutional symptom	51816	ADA2	OMIM:615688
HP:0025142	Constitutional symptom	3557	IL1RN	OMIM:612852
HP:0025142	Constitutional symptom	4148	MATN3	OMIM:607078
HP:0025142	Constitutional symptom	50515	CHST11	OMIM:618167
HP:0025142	Constitutional symptom	51371	POMP	OMIM:618048
HP:0025142	Constitutional symptom	3593	IL12B	ORPHA:3287
HP:0025142	Constitutional symptom	6945	MLX	ORPHA:3287
HP:0025142	Constitutional symptom	11277	TREX1	OMIM:610448
HP:0025142	Constitutional symptom	6609	SMPD1	OMIM:607616
HP:0025142	Constitutional symptom	1604	CD55	OMIM:226300
HP:0025142	Constitutional symptom	118429	ANTXR2	OMIM:228600
HP:0025142	Constitutional symptom	2512	FTL	ORPHA:254704
HP:0025142	Constitutional symptom	9051	PSTPIP1	ORPHA:69126
HP:0025142	Constitutional symptom	1235	CCR6	ORPHA:220393
HP:0025142	Constitutional symptom	1490	CCN2	ORPHA:220393
HP:0025142	Constitutional symptom	3663	IRF5	ORPHA:220393
HP:0025142	Constitutional symptom	857	CAV1	ORPHA:220393
HP:0025142	Constitutional symptom	9935	MAFB	OMIM:166300
HP:0025142	Constitutional symptom	5696	PSMB8	OMIM:256040
HP:0025142	Constitutional symptom	54829	ASPN	OMIM:607850
HP:0025142	Constitutional symptom	4982	TNFRSF11B	ORPHA:1416
HP:0025142	Constitutional symptom	56172	ANKH	ORPHA:1416
HP:0025142	Constitutional symptom	374654	KIF7	ORPHA:166024
HP:0025142	Constitutional symptom	246243	RNASEH1	ORPHA:329336
HP:0025142	Constitutional symptom	246243	RNASEH1	OMIM:616479
HP:0025142	Constitutional symptom	60684	TRAPPC11	OMIM:615356
HP:0025142	Constitutional symptom	60684	TRAPPC11	ORPHA:369840
HP:0025142	Constitutional symptom	60684	TRAPPC11	ORPHA:369847
HP:0025142	Constitutional symptom	1763	DNA2	ORPHA:352470
HP:0025142	Constitutional symptom	1763	DNA2	OMIM:615156
HP:0025142	Constitutional symptom	729920	CRPPA	ORPHA:352479
HP:0025142	Constitutional symptom	729920	CRPPA	ORPHA:370980
HP:0025142	Constitutional symptom	79147	FKRP	OMIM:607155
HP:0025142	Constitutional symptom	79147	FKRP	OMIM:606612
HP:0025142	Constitutional symptom	79147	FKRP	ORPHA:370980
HP:0025142	Constitutional symptom	55034	MOCOS	OMIM:603592
HP:0025142	Constitutional symptom	1340	COX6B1	OMIM:619051
HP:0025142	Constitutional symptom	55154	MSTO1	OMIM:617675
HP:0025142	Constitutional symptom	55154	MSTO1	ORPHA:502423
HP:0025142	Constitutional symptom	5468	PPARG	ORPHA:79083
HP:0025142	Constitutional symptom	9499	MYOT	OMIM:609200
HP:0025142	Constitutional symptom	2332	FMR1	ORPHA:93256
HP:0025142	Constitutional symptom	2332	FMR1	OMIM:300623
HP:0025142	Constitutional symptom	11107	PRDM5	OMIM:614170
HP:0025142	Constitutional symptom	11107	PRDM5	ORPHA:90354
HP:0025142	Constitutional symptom	844	CASQ1	OMIM:616231
HP:0025142	Constitutional symptom	844	CASQ1	ORPHA:2593
HP:0025142	Constitutional symptom	11232	POLG2	OMIM:610131
HP:0025142	Constitutional symptom	11232	POLG2	ORPHA:254892
HP:0025142	Constitutional symptom	28976	ACAD9	ORPHA:99901
HP:0025142	Constitutional symptom	54	ACP5	ORPHA:1855
HP:0025142	Constitutional symptom	7840	ALMS1	ORPHA:64
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:99735
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:99736
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:99734
HP:0025142	Constitutional symptom	6329	SCN4A	OMIM:168300
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:684
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:682
HP:0025142	Constitutional symptom	6329	SCN4A	OMIM:608390
HP:0025142	Constitutional symptom	1180	CLCN1	OMIM:255700
HP:0025142	Constitutional symptom	1180	CLCN1	OMIM:160800
HP:0025142	Constitutional symptom	4567	MT-TL1	ORPHA:225
HP:0025142	Constitutional symptom	4556	MT-TE	ORPHA:225
HP:0025142	Constitutional symptom	4556	MT-TE	ORPHA:2596
HP:0025142	Constitutional symptom	4566	MT-TK	ORPHA:225
HP:0025142	Constitutional symptom	4566	MT-TK	ORPHA:1349
HP:0025142	Constitutional symptom	23175	LPIN1	OMIM:268200
HP:0025142	Constitutional symptom	11149	BVES	OMIM:616812
HP:0025142	Constitutional symptom	11128	POLR3A	ORPHA:3455
HP:0025142	Constitutional symptom	84627	ZNF469	ORPHA:90354
HP:0025142	Constitutional symptom	270	AMPD1	ORPHA:45
HP:0025142	Constitutional symptom	272	AMPD3	ORPHA:45
HP:0025142	Constitutional symptom	487	ATP2A1	OMIM:601003
HP:0025142	Constitutional symptom	339855	KY	OMIM:617114
HP:0025142	Constitutional symptom	5213	PFKM	OMIM:232800
HP:0025142	Constitutional symptom	84876	ORAI1	ORPHA:2593
HP:0025142	Constitutional symptom	6786	STIM1	ORPHA:2593
HP:0025142	Constitutional symptom	6786	STIM1	OMIM:185070
HP:0025142	Constitutional symptom	3339	HSPG2	ORPHA:800
HP:0025142	Constitutional symptom	226	ALDOA	ORPHA:57
HP:0025142	Constitutional symptom	5256	PHKA2	ORPHA:264580
HP:0025142	Constitutional symptom	5261	PHKG2	ORPHA:264580
HP:0025142	Constitutional symptom	1376	CPT2	OMIM:255110
HP:0025142	Constitutional symptom	1376	CPT2	ORPHA:228302
HP:0025142	Constitutional symptom	1376	CPT2	ORPHA:228305
HP:0025142	Constitutional symptom	284119	CAVIN1	OMIM:613327
HP:0025142	Constitutional symptom	8291	DYSF	ORPHA:45448
HP:0025142	Constitutional symptom	4001	LMNB1	ORPHA:99027
HP:0025142	Constitutional symptom	291	SLC25A4	ORPHA:254892
HP:0025142	Constitutional symptom	291	SLC25A4	OMIM:615418
HP:0025142	Constitutional symptom	56652	TWNK	ORPHA:254892
HP:0025142	Constitutional symptom	56652	TWNK	OMIM:609286
HP:0025142	Constitutional symptom	5888	RAD51	ORPHA:238722
HP:0025142	Constitutional symptom	10126	DNAL4	ORPHA:238722
HP:0025142	Constitutional symptom	9423	NTN1	ORPHA:238722
HP:0025142	Constitutional symptom	1630	DCC	ORPHA:238722
HP:0025142	Constitutional symptom	5156	PDGFRA	OMIM:607685
HP:0025142	Constitutional symptom	10049	DNAJB6	OMIM:603511
HP:0025142	Constitutional symptom	7555	CNBP	OMIM:602668
HP:0025142	Constitutional symptom	3939	LDHA	OMIM:612933
HP:0025142	Constitutional symptom	2027	ENO3	OMIM:612932
HP:0025142	Constitutional symptom	10059	DNM1L	ORPHA:98673
HP:0025142	Constitutional symptom	4976	OPA1	ORPHA:98673
HP:0025142	Constitutional symptom	7084	TK2	ORPHA:254875
HP:0025142	Constitutional symptom	51116	MRPS2	OMIM:617950
HP:0025142	Constitutional symptom	64856	VWA1	OMIM:619216
HP:0025142	Constitutional symptom	825	CAPN3	OMIM:618129
HP:0025142	Constitutional symptom	5257	PHKB	ORPHA:79240
HP:0025142	Constitutional symptom	1312	COMT	ORPHA:567
HP:0025142	Constitutional symptom	221037	JMJD1C	ORPHA:567
HP:0025142	Constitutional symptom	2812	GP1BB	ORPHA:567
HP:0025142	Constitutional symptom	6239	RREB1	ORPHA:567
HP:0025142	Constitutional symptom	6899	TBX1	ORPHA:567
HP:0025142	Constitutional symptom	7290	HIRA	ORPHA:567
HP:0025142	Constitutional symptom	9632	SEC24C	ORPHA:567
HP:0025142	Constitutional symptom	7353	UFD1	ORPHA:567
HP:0025142	Constitutional symptom	421	ARVCF	ORPHA:567
HP:0025142	Constitutional symptom	4547	MTTP	ORPHA:14
HP:0025142	Constitutional symptom	55863	TMEM126B	OMIM:618250
HP:0025142	Constitutional symptom	112812	FDX2	OMIM:251900
HP:0025142	Constitutional symptom	2218	FKTN	ORPHA:370980
HP:0025142	Constitutional symptom	1756	DMD	ORPHA:98895
HP:0025142	Constitutional symptom	1756	DMD	OMIM:300376
HP:0025142	Constitutional symptom	1756	DMD	ORPHA:206546
HP:0025142	Constitutional symptom	6389	SDHA	OMIM:619259
HP:0025142	Constitutional symptom	4194	MDM4	OMIM:618849
HP:0025142	Constitutional symptom	124093	CCDC78	OMIM:614807
HP:0025142	Constitutional symptom	84842	HPDL	OMIM:619027
HP:0025142	Constitutional symptom	125170	MIEF2	OMIM:619024
HP:0025142	Constitutional symptom	203859	ANO5	OMIM:611307
HP:0025142	Constitutional symptom	203859	ANO5	ORPHA:206549
HP:0025142	Constitutional symptom	579	NKX3-2	OMIM:613330
HP:0025142	Constitutional symptom	10683	DLL3	OMIM:277300
HP:0025142	Constitutional symptom	145873	MESP2	OMIM:277300
HP:0025142	Constitutional symptom	7486	WRN	OMIM:277700
HP:0025142	Constitutional symptom	6911	TBX6	OMIM:122600
HP:0025142	Constitutional symptom	2639	GCDH	ORPHA:25
HP:0025142	Constitutional symptom	4558	MT-TF	ORPHA:550
HP:0025142	Constitutional symptom	4572	MT-TQ	ORPHA:550
HP:0025142	Constitutional symptom	4513	MT-CO2	ORPHA:550
HP:0025142	Constitutional symptom	4578	MT-TW	ORPHA:550
HP:0025142	Constitutional symptom	4540	MT-ND5	ORPHA:550
HP:0025142	Constitutional symptom	4541	MT-ND6	ORPHA:550
HP:0025142	Constitutional symptom	4535	MT-ND1	ORPHA:550
HP:0025142	Constitutional symptom	4538	MT-ND4	ORPHA:550
HP:0025142	Constitutional symptom	4574	MT-TS1	ORPHA:550
HP:0025142	Constitutional symptom	4574	MT-TS1	OMIM:220110
HP:0025142	Constitutional symptom	4575	MT-TS2	ORPHA:550
HP:0025142	Constitutional symptom	4564	MT-TH	ORPHA:550
HP:0025142	Constitutional symptom	3094	HINT1	ORPHA:324442
HP:0025142	Constitutional symptom	4570	MT-TN	OMIM:220110
HP:0025142	Constitutional symptom	6834	SURF1	OMIM:220110
HP:0025142	Constitutional symptom	29925	GMPPB	OMIM:615352
HP:0025142	Constitutional symptom	29925	GMPPB	ORPHA:363623
HP:0025142	Constitutional symptom	80308	FLAD1	OMIM:255100
HP:0025142	Constitutional symptom	1305	COL13A1	OMIM:616720
HP:0025142	Constitutional symptom	400916	CHCHD10	OMIM:616209
HP:0025142	Constitutional symptom	400916	CHCHD10	ORPHA:457050
HP:0025142	Constitutional symptom	2997	GYS1	OMIM:611556
HP:0025142	Constitutional symptom	345895	RSPH4A	OMIM:612649
HP:0025142	Constitutional symptom	92667	MGME1	OMIM:615084
HP:0025142	Constitutional symptom	92667	MGME1	ORPHA:352447
HP:0025142	Constitutional symptom	56997	COQ8A	ORPHA:139485
HP:0025142	Constitutional symptom	56997	COQ8A	OMIM:612016
HP:0025142	Constitutional symptom	221421	RSPH9	OMIM:612650
HP:0025142	Constitutional symptom	28958	COA3	OMIM:619058
HP:0025142	Constitutional symptom	513	ATP5F1D	OMIM:618120
HP:0025142	Constitutional symptom	708	C1QBP	OMIM:617713
HP:0025142	Constitutional symptom	80324	PUS1	OMIM:600462
HP:0025142	Constitutional symptom	7156	TOP3A	OMIM:618098
HP:0025142	Constitutional symptom	390594	KBTBD13	OMIM:609273
HP:0025142	Constitutional symptom	390594	KBTBD13	ORPHA:171439
HP:0025142	Constitutional symptom	10370	CITED2	ORPHA:99105
HP:0025142	Constitutional symptom	10370	CITED2	ORPHA:99103
HP:0025142	Constitutional symptom	7092	TLL1	ORPHA:99106
HP:0025142	Constitutional symptom	7092	TLL1	ORPHA:99103
HP:0025142	Constitutional symptom	57057	TBX20	ORPHA:99103
HP:0025142	Constitutional symptom	70	ACTC1	ORPHA:99103
HP:0025142	Constitutional symptom	2626	GATA4	ORPHA:99103
HP:0025142	Constitutional symptom	2627	GATA6	ORPHA:99103
HP:0025142	Constitutional symptom	2548	GAA	OMIM:232300
HP:0025142	Constitutional symptom	4519	MT-CYB	ORPHA:137675
HP:0025142	Constitutional symptom	10056	FARSB	OMIM:613658
HP:0025142	Constitutional symptom	63895	PIEZO2	OMIM:108145
HP:0025142	Constitutional symptom	1303	COL12A1	ORPHA:536516
HP:0025142	Constitutional symptom	57570	TRMT5	OMIM:616539
HP:0025142	Constitutional symptom	6901	TAFAZZIN	OMIM:302060
HP:0025142	Constitutional symptom	617	BCS1L	OMIM:124000
HP:0025142	Constitutional symptom	3920	LAMP2	OMIM:300257
HP:0025142	Constitutional symptom	2193	FARSA	OMIM:619013
HP:0025142	Constitutional symptom	6572	SLC18A3	OMIM:617239
HP:0025142	Constitutional symptom	4724	NDUFS4	OMIM:252010
HP:0025142	Constitutional symptom	84665	MYPN	ORPHA:171439
HP:0025142	Constitutional symptom	58	ACTA1	ORPHA:171439
HP:0025142	Constitutional symptom	7169	TPM2	ORPHA:171439
HP:0025142	Constitutional symptom	4703	NEB	ORPHA:171439
HP:0025142	Constitutional symptom	10324	KLHL41	ORPHA:171439
HP:0025142	Constitutional symptom	7170	TPM3	ORPHA:171439
HP:0025142	Constitutional symptom	5430	POLR2A	OMIM:618603
HP:0025142	Constitutional symptom	23479	ISCU	OMIM:255125
HP:0025142	Constitutional symptom	51067	YARS2	OMIM:613561
HP:0025142	Constitutional symptom	81034	SLC25A32	OMIM:616839
HP:0025142	Constitutional symptom	34	ACADM	ORPHA:42
HP:0025142	Constitutional symptom	37	ACADVL	OMIM:201475
HP:0025142	Constitutional symptom	5255	PHKA1	OMIM:300559
HP:0025142	Constitutional symptom	6261	RYR1	OMIM:255320
HP:0025142	Constitutional symptom	6261	RYR1	ORPHA:169189
HP:0025142	Constitutional symptom	6261	RYR1	OMIM:619542
HP:0025142	Constitutional symptom	22954	TRIM32	OMIM:254110
HP:0025142	Constitutional symptom	2318	FLNC	ORPHA:63273
HP:0025142	Constitutional symptom	9782	MATR3	ORPHA:600
HP:0025142	Constitutional symptom	274	BIN1	ORPHA:169189
HP:0025142	Constitutional symptom	64419	MTMR14	ORPHA:169189
HP:0025142	Constitutional symptom	4618	MYF6	ORPHA:169189
HP:0025142	Constitutional symptom	1785	DNM2	ORPHA:169189
HP:0025142	Constitutional symptom	5224	PGAM2	OMIM:261670
HP:0025142	Constitutional symptom	3178	HNRNPA1	OMIM:615424
HP:0025142	Constitutional symptom	90523	MLIP	OMIM:620138
HP:0025142	Constitutional symptom	284439	SLC25A42	OMIM:618416
HP:0025142	Constitutional symptom	4512	MT-CO1	ORPHA:99845
HP:0025142	Constitutional symptom	4514	MT-CO3	ORPHA:99845
HP:0025142	Constitutional symptom	5230	PGK1	ORPHA:713
HP:0025142	Constitutional symptom	10861	SLC26A1	OMIM:620372
HP:0025142	Constitutional symptom	8575	PRKRA	OMIM:612067
HP:0025142	Constitutional symptom	2335	FN1	ORPHA:93315
HP:0025142	Constitutional symptom	4854	NOTCH3	ORPHA:136
HP:0025142	Constitutional symptom	8694	DGAT1	OMIM:615863
HP:0025142	Constitutional symptom	5913	RAPSN	OMIM:616326
HP:0025142	Constitutional symptom	7068	THRB	OMIM:274300
HP:0025142	Constitutional symptom	6556	SLC11A1	ORPHA:3389
HP:0025142	Constitutional symptom	10060	ABCC9	OMIM:619719
HP:0025142	Constitutional symptom	1278	COL1A2	ORPHA:230851
HP:0025142	Constitutional symptom	2670	GFAP	OMIM:203450
HP:0025142	Constitutional symptom	64072	CDH23	ORPHA:2965
HP:0025142	Constitutional symptom	64072	CDH23	ORPHA:91347
HP:0025142	Constitutional symptom	2911	GRM1	OMIM:614831
HP:0025142	Constitutional symptom	23400	ATP13A2	ORPHA:314632
HP:0025142	Constitutional symptom	23400	ATP13A2	ORPHA:306674
HP:0025142	Constitutional symptom	23400	ATP13A2	OMIM:606693
HP:0025142	Constitutional symptom	7252	TSHB	ORPHA:90674
HP:0025142	Constitutional symptom	6005	RHAG	OMIM:185000
HP:0025142	Constitutional symptom	6772	STAT1	OMIM:614162
HP:0025142	Constitutional symptom	54453	RIN2	OMIM:613075
HP:0025142	Constitutional symptom	146862	UNC45B	OMIM:619178
HP:0025142	Constitutional symptom	2624	GATA2	ORPHA:98827
HP:0025142	Constitutional symptom	2624	GATA2	ORPHA:3226
HP:0025142	Constitutional symptom	1788	DNMT3A	ORPHA:276621
HP:0025142	Constitutional symptom	2034	EPAS1	ORPHA:276621
HP:0025142	Constitutional symptom	57190	SELENON	ORPHA:2020
HP:0025142	Constitutional symptom	3679	ITGA7	ORPHA:2020
HP:0025142	Constitutional symptom	9200	HACD1	ORPHA:2020
HP:0025142	Constitutional symptom	51776	MAP3K20	ORPHA:2020
HP:0025142	Constitutional symptom	5528	PPP2R5D	OMIM:616355
HP:0025142	Constitutional symptom	25942	SIN3A	OMIM:613406
HP:0025142	Constitutional symptom	10019	SH2B3	OMIM:133100
HP:0025142	Constitutional symptom	472	ATM	ORPHA:52416
HP:0025142	Constitutional symptom	1621	DBH	ORPHA:230
HP:0025142	Constitutional symptom	213	ALB	OMIM:616000
HP:0025142	Constitutional symptom	213	ALB	ORPHA:86816
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:226307
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:95494
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:90695
HP:0025142	Constitutional symptom	89884	LHX4	ORPHA:226307
HP:0025142	Constitutional symptom	89884	LHX4	ORPHA:95494
HP:0025142	Constitutional symptom	8022	LHX3	ORPHA:226307
HP:0025142	Constitutional symptom	5449	POU1F1	ORPHA:226307
HP:0025142	Constitutional symptom	5449	POU1F1	ORPHA:95494
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:226307
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:95494
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:3157
HP:0025142	Constitutional symptom	10068	IL18BP	OMIM:618549
HP:0025142	Constitutional symptom	1743	DLST	ORPHA:29072
HP:0025142	Constitutional symptom	4191	MDH2	ORPHA:29072
HP:0025142	Constitutional symptom	2271	FH	ORPHA:29072
HP:0025142	Constitutional symptom	8402	SLC25A11	ORPHA:29072
HP:0025142	Constitutional symptom	54949	SDHAF2	ORPHA:29072
HP:0025142	Constitutional symptom	55654	TMEM127	ORPHA:29072
HP:0025142	Constitutional symptom	4763	NF1	ORPHA:29072
HP:0025142	Constitutional symptom	4149	MAX	ORPHA:29072
HP:0025142	Constitutional symptom	79798	ARMC5	OMIM:615954
HP:0025142	Constitutional symptom	81031	SLC2A10	ORPHA:3342
HP:0025142	Constitutional symptom	2736	GLI2	ORPHA:95494
HP:0025142	Constitutional symptom	3170	FOXA2	ORPHA:95494
HP:0025142	Constitutional symptom	5015	OTX2	ORPHA:95494
HP:0025142	Constitutional symptom	5015	OTX2	ORPHA:3157
HP:0025142	Constitutional symptom	2908	NR3C1	OMIM:615962
HP:0025142	Constitutional symptom	2908	NR3C1	ORPHA:786
HP:0025142	Constitutional symptom	4665	NAB2	ORPHA:2126
HP:0025142	Constitutional symptom	6778	STAT6	ORPHA:2126
HP:0025142	Constitutional symptom	9493	KIF23	ORPHA:98870
HP:0025142	Constitutional symptom	29127	RACGAP1	ORPHA:98870
HP:0025142	Constitutional symptom	695	BTK	ORPHA:47
HP:0025142	Constitutional symptom	5339	PLEC	ORPHA:257
HP:0025142	Constitutional symptom	162417	NAGS	ORPHA:927
HP:0025142	Constitutional symptom	25978	CHMP2B	ORPHA:803
HP:0025142	Constitutional symptom	8148	TAF15	ORPHA:803
HP:0025142	Constitutional symptom	5445	PON2	ORPHA:803
HP:0025142	Constitutional symptom	9217	VAPB	ORPHA:803
HP:0025142	Constitutional symptom	5630	PRPH	ORPHA:803
HP:0025142	Constitutional symptom	55830	GLT8D1	ORPHA:803
HP:0025142	Constitutional symptom	755	CFAP410	ORPHA:803
HP:0025142	Constitutional symptom	10891	PPARGC1A	ORPHA:803
HP:0025142	Constitutional symptom	6647	SOD1	ORPHA:803
HP:0025142	Constitutional symptom	10133	OPTN	ORPHA:803
HP:0025142	Constitutional symptom	1639	DCTN1	ORPHA:803
HP:0025142	Constitutional symptom	5444	PON1	ORPHA:803
HP:0025142	Constitutional symptom	5446	PON3	ORPHA:803
HP:0025142	Constitutional symptom	4744	NEFH	ORPHA:803
HP:0025142	Constitutional symptom	5216	PFN1	ORPHA:803
HP:0025142	Constitutional symptom	283	ANG	ORPHA:803
HP:0025142	Constitutional symptom	23435	TARDBP	ORPHA:803
HP:0025142	Constitutional symptom	29978	UBQLN2	ORPHA:803
HP:0025142	Constitutional symptom	2733	GLE1	ORPHA:803
HP:0025142	Constitutional symptom	4750	NEK1	ORPHA:803
HP:0025142	Constitutional symptom	2043	EPHA4	ORPHA:803
HP:0025142	Constitutional symptom	6311	ATXN2	ORPHA:803
HP:0025142	Constitutional symptom	1610	DAO	ORPHA:803
HP:0025142	Constitutional symptom	2066	ERBB4	ORPHA:803
HP:0025142	Constitutional symptom	311	ANXA11	ORPHA:803
HP:0025142	Constitutional symptom	23025	UNC13A	ORPHA:803
HP:0025142	Constitutional symptom	899	CCNF	ORPHA:803
HP:0025142	Constitutional symptom	7201	TRHR	ORPHA:99832
HP:0025142	Constitutional symptom	7201	TRHR	OMIM:618573
HP:0025142	Constitutional symptom	4615	MYD88	ORPHA:33226
HP:0025142	Constitutional symptom	55023	PHIP	ORPHA:589905
HP:0025142	Constitutional symptom	10568	SLC34A2	ORPHA:60025
HP:0025142	Constitutional symptom	6658	SOX3	ORPHA:90695
HP:0025142	Constitutional symptom	6658	SOX3	ORPHA:3157
HP:0025142	Constitutional symptom	6929	TCF3	ORPHA:33110
HP:0025142	Constitutional symptom	973	CD79A	ORPHA:33110
HP:0025142	Constitutional symptom	974	CD79B	ORPHA:33110
HP:0025142	Constitutional symptom	3543	IGLL1	ORPHA:33110
HP:0025142	Constitutional symptom	3507	IGHM	ORPHA:33110
HP:0025142	Constitutional symptom	29760	BLNK	ORPHA:33110
HP:0025142	Constitutional symptom	5295	PIK3R1	ORPHA:33110
HP:0025142	Constitutional symptom	56262	LRRC8A	ORPHA:33110
HP:0025142	Constitutional symptom	3155	HMGCL	ORPHA:20
HP:0025142	Constitutional symptom	6571	SLC18A2	ORPHA:352649
HP:0025142	Constitutional symptom	6571	SLC18A2	OMIM:618049
HP:0025142	Constitutional symptom	596	BCL2	ORPHA:545
HP:0025142	Constitutional symptom	604	BCL6	ORPHA:545
HP:0025142	Constitutional symptom	22880	MORC2	ORPHA:466768
HP:0025142	Constitutional symptom	59067	IL21	OMIM:615767
HP:0025142	Constitutional symptom	7849	PAX8	ORPHA:95720
HP:0025142	Constitutional symptom	7849	PAX8	ORPHA:95713
HP:0025142	Constitutional symptom	7253	TSHR	ORPHA:95720
HP:0025142	Constitutional symptom	7253	TSHR	ORPHA:95713
HP:0025142	Constitutional symptom	5172	SLC26A4	ORPHA:95720
HP:0025142	Constitutional symptom	5172	SLC26A4	ORPHA:95713
HP:0025142	Constitutional symptom	3039	HBA1	ORPHA:98791
HP:0025142	Constitutional symptom	3040	HBA2	ORPHA:98791
HP:0025142	Constitutional symptom	27235	COQ2	OMIM:607426
HP:0025142	Constitutional symptom	55240	STEAP3	ORPHA:300298
HP:0025142	Constitutional symptom	8867	SYNJ1	OMIM:615530
HP:0025142	Constitutional symptom	8867	SYNJ1	ORPHA:391411
HP:0025142	Constitutional symptom	79572	ATP13A3	OMIM:265400
HP:0025142	Constitutional symptom	7080	NKX2-1	ORPHA:95713
HP:0025142	Constitutional symptom	3643	INSR	ORPHA:263458
HP:0025142	Constitutional symptom	3172	HNF4A	ORPHA:263455
HP:0025142	Constitutional symptom	546	ATRX	ORPHA:231401
HP:0025142	Constitutional symptom	146206	CARMIL2	OMIM:618131
HP:0025142	Constitutional symptom	55340	GIMAP5	OMIM:619463
HP:0025142	Constitutional symptom	56244	BTNL2	ORPHA:797
HP:0025142	Constitutional symptom	84265	POLR3GL	OMIM:619234
HP:0025142	Constitutional symptom	55791	LRIF1	OMIM:619477
HP:0025142	Constitutional symptom	2643	GCH1	ORPHA:98808
HP:0025142	Constitutional symptom	4929	NR4A2	ORPHA:98808
HP:0025142	Constitutional symptom	3615	IMPDH2	ORPHA:98808
HP:0025142	Constitutional symptom	7528	YY1	ORPHA:97279
HP:0025142	Constitutional symptom	7036	TFR2	OMIM:604250
HP:0025142	Constitutional symptom	9829	DNAJC6	ORPHA:391411
HP:0025142	Constitutional symptom	5420	PODXL	ORPHA:391411
HP:0025142	Constitutional symptom	7204	TRIO	OMIM:617061
HP:0025142	Constitutional symptom	3594	IL12RB1	ORPHA:186
HP:0025142	Constitutional symptom	23534	TNPO3	ORPHA:186
HP:0025142	Constitutional symptom	6689	SPIB	ORPHA:186
HP:0025142	Constitutional symptom	5450	POU2AF1	ORPHA:186
HP:0025142	Constitutional symptom	9966	TNFSF15	ORPHA:186
HP:0025142	Constitutional symptom	79258	MMEL1	ORPHA:186
HP:0025142	Constitutional symptom	128240	NAXE	OMIM:617186
HP:0025142	Constitutional symptom	6519	SLC3A1	ORPHA:163690
HP:0025142	Constitutional symptom	9581	PREPL	ORPHA:163690
HP:0025142	Constitutional symptom	2645	GCK	ORPHA:79299
HP:0025142	Constitutional symptom	9095	TBX19	ORPHA:199296
HP:0025142	Constitutional symptom	9365	KL	OMIM:617994
HP:0025142	Constitutional symptom	55624	POMGNT1	OMIM:613157
HP:0025142	Constitutional symptom	27249	MMADHC	ORPHA:79283
HP:0025142	Constitutional symptom	613	BCR	ORPHA:521
HP:0025142	Constitutional symptom	25	ABL1	ORPHA:521
HP:0025142	Constitutional symptom	3839	KPNA3	ORPHA:171612
HP:0025142	Constitutional symptom	341208	HEPHL1	OMIM:261990
HP:0025142	Constitutional symptom	2260	FGFR1	ORPHA:3157
HP:0025142	Constitutional symptom	128674	PROKR2	ORPHA:3157
HP:0025142	Constitutional symptom	6657	SOX2	ORPHA:3157
HP:0025142	Constitutional symptom	9915	ARNT2	ORPHA:3157
HP:0025142	Constitutional symptom	50640	PNPLA8	OMIM:251950
HP:0025142	Constitutional symptom	10625	IVNS1ABP	OMIM:618969
HP:0025142	Constitutional symptom	56246	MRAP	ORPHA:361
HP:0025142	Constitutional symptom	6770	STAR	ORPHA:361
HP:0025142	Constitutional symptom	4158	MC2R	ORPHA:361
HP:0025142	Constitutional symptom	23530	NNT	ORPHA:361
HP:0025142	Constitutional symptom	10587	TXNRD2	ORPHA:361
HP:0025142	Constitutional symptom	440275	EIF2AK4	OMIM:234810
HP:0025142	Constitutional symptom	4508	MT-ATP6	ORPHA:320360
HP:0025142	Constitutional symptom	10613	ERLIN1	ORPHA:401785
HP:0025142	Constitutional symptom	4669	NAGLU	OMIM:616491
HP:0025142	Constitutional symptom	55768	NGLY1	OMIM:615273
HP:0025142	Constitutional symptom	80207	OPA3	ORPHA:67036
HP:0025142	Constitutional symptom	11280	SCN11A	OMIM:615552
HP:0025142	Constitutional symptom	83706	FERMT3	OMIM:612840
HP:0025142	Constitutional symptom	4035	LRP1	ORPHA:79100
HP:0025142	Constitutional symptom	5925	RB1	ORPHA:668
HP:0025142	Constitutional symptom	11200	CHEK2	ORPHA:668
HP:0025142	Constitutional symptom	7373	COL14A1	ORPHA:79501
HP:0025142	Constitutional symptom	79719	AAGAB	ORPHA:79501
HP:0025142	Constitutional symptom	4311	MME	ORPHA:497764
HP:0025142	Constitutional symptom	79587	CARS2	ORPHA:477774
HP:0025142	Constitutional symptom	10229	COQ7	OMIM:616733
HP:0025142	Constitutional symptom	3035	HARS1	ORPHA:488333
HP:0025142	Constitutional symptom	51726	DNAJB11	ORPHA:730
HP:0025142	Constitutional symptom	23193	GANAB	ORPHA:730
HP:0025142	Constitutional symptom	5310	PKD1	ORPHA:730
HP:0025142	Constitutional symptom	5311	PKD2	ORPHA:730
HP:0025142	Constitutional symptom	29880	ALG5	ORPHA:730
HP:0025142	Constitutional symptom	9742	IFT140	ORPHA:730
HP:0025142	Constitutional symptom	79796	ALG9	ORPHA:730
HP:0025142	Constitutional symptom	80114	BICC1	ORPHA:730
HP:0025142	Constitutional symptom	9630	GNA14	ORPHA:1063
HP:0025142	Constitutional symptom	847	CAT	ORPHA:926
HP:0025142	Constitutional symptom	8131	NPRL3	ORPHA:98820
HP:0025142	Constitutional symptom	10641	NPRL2	ORPHA:98820
HP:0025142	Constitutional symptom	51308	REEP2	ORPHA:401849
HP:0025142	Constitutional symptom	65998	ZFTA	ORPHA:251636
HP:0025142	Constitutional symptom	5970	RELA	ORPHA:251636
HP:0025142	Constitutional symptom	112817	HOGA1	ORPHA:93600
HP:0025142	Constitutional symptom	1513	CTSK	ORPHA:763
HP:0025142	Constitutional symptom	4312	MMP1	ORPHA:79408
HP:0025142	Constitutional symptom	1294	COL7A1	ORPHA:79408
HP:0025142	Constitutional symptom	4287	ATXN3	OMIM:109150
HP:0025142	Constitutional symptom	7042	TGFB2	OMIM:614816
HP:0025142	Constitutional symptom	28982	FLVCR1	ORPHA:88628
HP:0025142	Constitutional symptom	171023	ASXL1	ORPHA:98850
HP:0025142	Constitutional symptom	54790	TET2	ORPHA:98850
HP:0025142	Constitutional symptom	54790	TET2	ORPHA:824
HP:0025142	Constitutional symptom	867	CBL	ORPHA:98850
HP:0025142	Constitutional symptom	861	RUNX1	ORPHA:98850
HP:0025142	Constitutional symptom	6427	SRSF2	ORPHA:98850
HP:0025142	Constitutional symptom	811	CALR	ORPHA:824
HP:0025142	Constitutional symptom	4352	MPL	ORPHA:824
HP:0025142	Constitutional symptom	3717	JAK2	ORPHA:824
HP:0025142	Constitutional symptom	8314	BAP1	ORPHA:50251
HP:0025142	Constitutional symptom	84868	HAVCR2	ORPHA:86884
HP:0025142	Constitutional symptom	4598	MVK	OMIM:260920
HP:0025142	Constitutional symptom	5314	PKHD1	ORPHA:53035
HP:0025142	Constitutional symptom	2038	EPB42	ORPHA:822
HP:0025142	Constitutional symptom	6521	SLC4A1	ORPHA:822
HP:0025142	Constitutional symptom	6710	SPTB	ORPHA:822
HP:0025142	Constitutional symptom	6710	SPTB	ORPHA:288
HP:0025142	Constitutional symptom	6708	SPTA1	ORPHA:822
HP:0025142	Constitutional symptom	6708	SPTA1	ORPHA:288
HP:0025142	Constitutional symptom	286	ANK1	ORPHA:822
HP:0025142	Constitutional symptom	2035	EPB41	ORPHA:288
HP:0025142	Constitutional symptom	2995	GYPC	ORPHA:288
HP:0025142	Constitutional symptom	114548	NLRP3	OMIM:120100
HP:0025142	Constitutional symptom	7187	TRAF3	ORPHA:1930
HP:0025142	Constitutional symptom	81622	UNC93B1	ORPHA:1930
HP:0025142	Constitutional symptom	148022	TICAM1	ORPHA:1930
HP:0025142	Constitutional symptom	7098	TLR3	ORPHA:1930
HP:0025142	Constitutional symptom	29110	TBK1	ORPHA:1930
HP:0025142	Constitutional symptom	1135	CHRNA2	OMIM:610353
HP:0025142	Constitutional symptom	3032	HADHB	ORPHA:746
HP:0025142	Constitutional symptom	3030	HADHA	ORPHA:746
HP:0025142	Constitutional symptom	3852	KRT5	ORPHA:79400
HP:0025142	Constitutional symptom	3861	KRT14	ORPHA:79400
HP:0025142	Constitutional symptom	212	ALAS2	OMIM:300751
HP:0025142	Constitutional symptom	9692	PRORP	OMIM:619737
HP:0025142	Constitutional symptom	1716	DGUOK	ORPHA:329314
HP:0025142	Constitutional symptom	9842	PLEKHM1	OMIM:618107
HP:0025142	Constitutional symptom	50814	NSDHL	ORPHA:251383
HP:0025142	Constitutional symptom	5277	PIGA	ORPHA:447
HP:0025142	Constitutional symptom	4125	MAN2B1	ORPHA:309282
HP:0025142	Constitutional symptom	4125	MAN2B1	ORPHA:309288
HP:0025142	Constitutional symptom	4522	MTHFD1	OMIM:617780
HP:0025142	Constitutional symptom	866	SERPINA6	OMIM:611489
HP:0025142	Constitutional symptom	9096	TBX18	OMIM:143400
HP:0025142	Constitutional symptom	182	JAG1	OMIM:619574
HP:0025142	Constitutional symptom	10165	SLC25A13	ORPHA:247585
HP:0025142	Constitutional symptom	9256	TSPOAP1	ORPHA:101150
HP:0025142	Constitutional symptom	7054	TH	ORPHA:101150
HP:0025142	Constitutional symptom	3868	KRT16	ORPHA:2309
HP:0025142	Constitutional symptom	3872	KRT17	ORPHA:2309
HP:0025142	Constitutional symptom	3853	KRT6A	ORPHA:2309
HP:0025142	Constitutional symptom	3854	KRT6B	ORPHA:2309
HP:0025142	Constitutional symptom	4914	NTRK1	ORPHA:642
HP:0025142	Constitutional symptom	5921	RASA1	ORPHA:90307
HP:0025142	Constitutional symptom	5376	PMP22	ORPHA:101081
HP:0025142	Constitutional symptom	10269	ZMPSTE24	ORPHA:740
HP:0025142	Constitutional symptom	3181	HNRNPA2B1	ORPHA:52430
HP:0025142	Constitutional symptom	10804	GJB6	ORPHA:477
HP:0025142	Constitutional symptom	2706	GJB2	ORPHA:477
HP:0025142	Constitutional symptom	4010	LMX1B	ORPHA:2614
HP:0025142	Constitutional symptom	4796	TONSL	ORPHA:93357
HP:0025142	Constitutional symptom	26580	BSCL2	ORPHA:100998
HP:0025142	Constitutional symptom	4322	MMP13	OMIM:250400
HP:0025142	Constitutional symptom	567	B2M	ORPHA:314652
HP:0025142	Constitutional symptom	3373	HYAL1	OMIM:601492
HP:0025142	Constitutional symptom	6935	ZEB1	ORPHA:98974
HP:0025142	Constitutional symptom	123624	AGBL1	ORPHA:98974
HP:0025142	Constitutional symptom	6925	TCF4	ORPHA:98974
HP:0025142	Constitutional symptom	83959	SLC4A11	ORPHA:98974
HP:0025142	Constitutional symptom	1296	COL8A2	ORPHA:98974
HP:0025142	Constitutional symptom	6840	SVIL	OMIM:619040
HP:0025142	Constitutional symptom	23299	BICD2	OMIM:615290
HP:0025142	Constitutional symptom	6331	SCN5A	ORPHA:1344
HP:0025142	Constitutional symptom	4878	NPPA	ORPHA:1344
HP:0025142	Constitutional symptom	3753	KCNE1	ORPHA:90647
HP:0025142	Constitutional symptom	3784	KCNQ1	ORPHA:90647
HP:0025142	Constitutional symptom	1311	COMP	ORPHA:93308
HP:0025142	Constitutional symptom	56606	SLC2A9	ORPHA:94088
HP:0025142	Constitutional symptom	116085	SLC22A12	ORPHA:94088
HP:0025142	Constitutional symptom	5836	PYGL	ORPHA:369
HP:0025142	Constitutional symptom	5837	PYGM	ORPHA:368
HP:0025142	Constitutional symptom	1297	COL9A1	ORPHA:166002
HP:0025142	Constitutional symptom	1298	COL9A2	ORPHA:166002
HP:0025142	Constitutional symptom	1299	COL9A3	ORPHA:166002
HP:0025142	Constitutional symptom	55703	POLR3B	OMIM:619742
HP:0025142	Constitutional symptom	59341	TRPV4	ORPHA:86820
HP:0025142	Constitutional symptom	10558	SPTLC1	ORPHA:36386
HP:0025142	Constitutional symptom	25923	ATL3	ORPHA:36386
HP:0025142	Constitutional symptom	9517	SPTLC2	ORPHA:36386
HP:0025142	Constitutional symptom	51062	ATL1	ORPHA:36386
HP:0025142	Constitutional symptom	5281	PIGF	OMIM:619356
HP:0025142	Constitutional symptom	56896	DPYSL5	OMIM:619435
HP:0025142	Constitutional symptom	5832	ALDH18A1	ORPHA:447760
HP:0025142	Constitutional symptom	197322	ACSF3	ORPHA:289504
HP:0025142	Constitutional symptom	1837	DTNA	OMIM:604169
HP:0025142	Constitutional symptom	57104	PNPLA2	ORPHA:565612
HP:0025142	Constitutional symptom	1288	COL4A6	ORPHA:1018
HP:0025142	Constitutional symptom	1287	COL4A5	ORPHA:1018
HP:0025142	Constitutional symptom	8989	TRPA1	OMIM:615040
HP:0025142	Constitutional symptom	2131	EXT1	ORPHA:321
HP:0025142	Constitutional symptom	2132	EXT2	ORPHA:321
HP:0025142	Constitutional symptom	91662	NLRP12	OMIM:611762
HP:0025142	Constitutional symptom	1380	CR2	OMIM:614699
HP:0025142	Constitutional symptom	10815	CPLX1	OMIM:617976
HP:0025142	Constitutional symptom	6334	SCN8A	OMIM:614558
HP:0025142	Constitutional symptom	6323	SCN1A	OMIM:619317
HP:0025142	Constitutional symptom	55164	SHQ1	OMIM:619922
HP:0025142	Constitutional symptom	57465	TBC1D24	OMIM:615338
HP:0025142	Constitutional symptom	60558	GUF1	OMIM:617065
HP:0025142	Constitutional symptom	9896	FIG4	OMIM:612691
HP:0025142	Constitutional symptom	55148	UBR7	OMIM:619189
HP:0025142	Constitutional symptom	23162	MAPK8IP3	OMIM:618443
HP:0025142	Constitutional symptom	3425	IDUA	OMIM:607015
HP:0025142	Constitutional symptom	2731	GLDC	OMIM:605899
HP:0025142	Constitutional symptom	275	AMT	OMIM:605899
HP:0025142	Constitutional symptom	5621	PRNP	ORPHA:282166
HP:0025142	Constitutional symptom	79628	SH3TC2	ORPHA:99949
HP:0025142	Constitutional symptom	4771	NF2	ORPHA:2495
HP:0025142	Constitutional symptom	6598	SMARCB1	ORPHA:2495
HP:0025142	Constitutional symptom	5155	PDGFB	ORPHA:2495
HP:0025142	Constitutional symptom	84231	TRAF7	ORPHA:2495
HP:0025142	Constitutional symptom	6608	SMO	ORPHA:2495
HP:0025142	Constitutional symptom	207	AKT1	ORPHA:2495
HP:0025142	Constitutional symptom	5290	PIK3CA	ORPHA:2495
HP:0025142	Constitutional symptom	7015	TERT	ORPHA:2495
HP:0025142	Constitutional symptom	51684	SUFU	ORPHA:2495
HP:0025142	Constitutional symptom	6605	SMARCE1	ORPHA:2495
HP:0025142	Constitutional symptom	7066	THPO	ORPHA:71493
HP:0025142	Constitutional symptom	8675	STX16	ORPHA:94089
HP:0025142	Constitutional symptom	4842	NOS1	ORPHA:930
HP:0025142	Constitutional symptom	1281	COL3A1	OMIM:130050
HP:0025142	Constitutional symptom	2022	ENG	OMIM:187300
HP:0025142	Constitutional symptom	1000	CDH2	OMIM:618920
HP:0025142	Constitutional symptom	5350	PLN	OMIM:613874
HP:0025142	Constitutional symptom	6049	RNF6	ORPHA:99977
HP:0025142	Constitutional symptom	51741	WWOX	ORPHA:99977
HP:0025142	Constitutional symptom	9940	DLEC1	ORPHA:99977
HP:0025142	Constitutional symptom	4629	MYH11	ORPHA:229
HP:0025142	Constitutional symptom	4629	MYH11	ORPHA:91387
HP:0025142	Constitutional symptom	171019	ADAMTS19	OMIM:620067
HP:0025142	Constitutional symptom	4205	MEF2A	OMIM:608320
HP:0025142	Constitutional symptom	54344	DPM3	ORPHA:263494
HP:0025142	Constitutional symptom	7046	TGFBR1	ORPHA:91387
HP:0025142	Constitutional symptom	4015	LOX	ORPHA:91387
HP:0025142	Constitutional symptom	2200	FBN1	ORPHA:91387
HP:0025142	Constitutional symptom	59	ACTA2	ORPHA:91387
HP:0025142	Constitutional symptom	5592	PRKG1	ORPHA:91387
HP:0025142	Constitutional symptom	2301	FOXE3	ORPHA:91387
HP:0025142	Constitutional symptom	4144	MAT2A	ORPHA:91387
HP:0025142	Constitutional symptom	23493	HEY2	ORPHA:91387
HP:0025142	Constitutional symptom	8076	MFAP5	ORPHA:91387
HP:0025142	Constitutional symptom	940	CD28	ORPHA:3162
HP:0025142	Constitutional symptom	7133	TNFRSF1B	ORPHA:3162
HP:0025142	Constitutional symptom	5627	PROS1	ORPHA:743
HP:0025142	Constitutional symptom	5624	PROC	ORPHA:745
HP:0025142	Constitutional symptom	3832	KIF11	ORPHA:2526
HP:0025142	Constitutional symptom	151516	ASPRV1	ORPHA:313
HP:0025142	Constitutional symptom	242	ALOX12B	ORPHA:313
HP:0025142	Constitutional symptom	126410	CYP4F22	ORPHA:313
HP:0025142	Constitutional symptom	6820	SULT2B1	ORPHA:313
HP:0025142	Constitutional symptom	643418	LIPN	ORPHA:313
HP:0025142	Constitutional symptom	59344	ALOXE3	ORPHA:313
HP:0025142	Constitutional symptom	348938	NIPAL4	ORPHA:313
HP:0025142	Constitutional symptom	121214	SDR9C7	ORPHA:313
HP:0025142	Constitutional symptom	7051	TGM1	ORPHA:313
HP:0025142	Constitutional symptom	4143	MAT1A	OMIM:250850
HP:0025142	Constitutional symptom	8991	SELENBP1	OMIM:618148
HP:0025142	Constitutional symptom	6340	SCNN1G	ORPHA:60033
HP:0025142	Constitutional symptom	1080	CFTR	ORPHA:60033
HP:0025142	Constitutional symptom	6337	SCNN1A	ORPHA:60033
HP:0025142	Constitutional symptom	6338	SCNN1B	ORPHA:60033
HP:0025142	Constitutional symptom	4041	LRP5	OMIM:607634
HP:0025142	Constitutional symptom	79577	CDC73	ORPHA:143
HP:0025142	Constitutional symptom	79577	CDC73	ORPHA:99880
HP:0025142	Constitutional symptom	4166	CHST6	ORPHA:98969
HP:0025142	Constitutional symptom	6335	SCN9A	OMIM:167400
HP:0025142	Constitutional symptom	1308	COL17A1	ORPHA:293381
HP:0025142	Constitutional symptom	1308	COL17A1	OMIM:122400
HP:0025142	Constitutional symptom	57105	CYSLTR2	ORPHA:39044
HP:0025142	Constitutional symptom	2776	GNAQ	ORPHA:39044
HP:0025142	Constitutional symptom	2767	GNA11	ORPHA:39044
HP:0025142	Constitutional symptom	23451	SF3B1	ORPHA:39044
HP:0025142	Constitutional symptom	7045	TGFBI	ORPHA:98962
HP:0025142	Constitutional symptom	7045	TGFBI	ORPHA:98964
HP:0025142	Constitutional symptom	7045	TGFBI	ORPHA:98960
HP:0025142	Constitutional symptom	1497	CTNS	ORPHA:411634
HP:0025142	Constitutional symptom	23516	SLC39A14	OMIM:144755
HP:0025142	Constitutional symptom	30813	VSX1	ORPHA:98973
HP:0025142	Constitutional symptom	58495	OVOL2	ORPHA:98973
HP:0025142	Constitutional symptom	79977	GRHL2	ORPHA:98973
HP:0025142	Constitutional symptom	2328	FMO3	ORPHA:468726
HP:0025142	Constitutional symptom	29958	DMGDH	ORPHA:243343
HP:0025142	Constitutional symptom	29958	DMGDH	OMIM:605850
HP:0025142	Constitutional symptom	38	ACAT1	ORPHA:134
HP:0025143	Chills	84868	HAVCR2	ORPHA:86884
HP:0025143	Chills	4598	MVK	OMIM:260920
HP:0025143	Chills	5314	PKHD1	ORPHA:53035
HP:0025143	Chills	2038	EPB42	ORPHA:822
HP:0025143	Chills	6521	SLC4A1	ORPHA:822
HP:0025143	Chills	6710	SPTB	ORPHA:822
HP:0025143	Chills	6710	SPTB	ORPHA:288
HP:0025143	Chills	6708	SPTA1	ORPHA:822
HP:0025143	Chills	6708	SPTA1	ORPHA:288
HP:0025143	Chills	286	ANK1	ORPHA:822
HP:0025143	Chills	2035	EPB41	ORPHA:288
HP:0025143	Chills	2995	GYPC	ORPHA:288
HP:0025143	Chills	114548	NLRP3	OMIM:120100
HP:0025143	Chills	7187	TRAF3	ORPHA:1930
HP:0025143	Chills	81622	UNC93B1	ORPHA:1930
HP:0025143	Chills	148022	TICAM1	ORPHA:1930
HP:0025143	Chills	7098	TLR3	ORPHA:1930
HP:0025143	Chills	29110	TBK1	ORPHA:1930
HP:0025143	Chills	3032	HADHB	ORPHA:746
HP:0025143	Chills	3030	HADHA	ORPHA:746
HP:0025144	Shivering	1135	CHRNA2	OMIM:610353
HP:0025144	Shivering	3032	HADHB	ORPHA:746
HP:0025144	Shivering	3030	HADHA	ORPHA:746
HP:0025145	Rigors	3032	HADHB	ORPHA:746
HP:0025145	Rigors	3030	HADHA	ORPHA:746
HP:0025147	Beaten bronze macular sheen	157657	CFAP418	OMIM:614500
HP:0025148	Dark choroid	5961	PRPH2	OMIM:169150
HP:0025149	Atrophic muscularis propria	5428	POLG	ORPHA:298
HP:0025149	Atrophic muscularis propria	1890	TYMP	ORPHA:298
HP:0025149	Atrophic muscularis propria	3980	LIG3	ORPHA:298
HP:0025149	Atrophic muscularis propria	50484	RRM2B	ORPHA:298
HP:0025152	Poor visual behavior for age	57465	TBC1D24	ORPHA:352596
HP:0025152	Poor visual behavior for age	5621	PRNP	ORPHA:282166
HP:0025152	Poor visual behavior for age	6857	SYT1	ORPHA:522077
HP:0025155	Abnormality of hepatobiliary system physiology	1374	CPT1A	ORPHA:156
HP:0025155	Abnormality of hepatobiliary system physiology	26191	PTPN22	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	3106	HLA-B	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	8974	P4HA2	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	6309	SC5D	ORPHA:46059
HP:0025155	Abnormality of hepatobiliary system physiology	72	ACTG2	OMIM:619431
HP:0025155	Abnormality of hepatobiliary system physiology	2632	GBE1	OMIM:232500
HP:0025155	Abnormality of hepatobiliary system physiology	26160	IFT172	OMIM:615630
HP:0025155	Abnormality of hepatobiliary system physiology	9414	TJP2	OMIM:615878
HP:0025155	Abnormality of hepatobiliary system physiology	2629	GBA1	OMIM:608013
HP:0025155	Abnormality of hepatobiliary system physiology	9420	CYP7B1	ORPHA:79302
HP:0025155	Abnormality of hepatobiliary system physiology	9420	CYP7B1	OMIM:613812
HP:0025155	Abnormality of hepatobiliary system physiology	6718	AKR1D1	ORPHA:79303
HP:0025155	Abnormality of hepatobiliary system physiology	6718	AKR1D1	OMIM:235555
HP:0025155	Abnormality of hepatobiliary system physiology	5009	OTC	ORPHA:664
HP:0025155	Abnormality of hepatobiliary system physiology	4535	MT-ND1	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4536	MT-ND2	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4537	MT-ND3	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4538	MT-ND4	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4567	MT-TL1	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4578	MT-TW	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4577	MT-TV	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4508	MT-ATP6	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4540	MT-ND5	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4541	MT-ND6	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4566	MT-TK	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	197131	UBR1	OMIM:243800
HP:0025155	Abnormality of hepatobiliary system physiology	4141	MARS1	OMIM:615486
HP:0025155	Abnormality of hepatobiliary system physiology	54658	UGT1A1	OMIM:143500
HP:0025155	Abnormality of hepatobiliary system physiology	2165	F13B	ORPHA:331
HP:0025155	Abnormality of hepatobiliary system physiology	2162	F13A1	ORPHA:331
HP:0025155	Abnormality of hepatobiliary system physiology	427	ASAH1	ORPHA:333
HP:0025155	Abnormality of hepatobiliary system physiology	27235	COQ2	OMIM:607426
HP:0025155	Abnormality of hepatobiliary system physiology	51473	DCDC2	OMIM:617394
HP:0025155	Abnormality of hepatobiliary system physiology	5105	PCK1	OMIM:261680
HP:0025155	Abnormality of hepatobiliary system physiology	50619	DEF6	OMIM:619573
HP:0025155	Abnormality of hepatobiliary system physiology	7019	TFAM	OMIM:617156
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	OMIM:278000
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	ORPHA:75233
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	ORPHA:75234
HP:0025155	Abnormality of hepatobiliary system physiology	4358	MPV17	OMIM:256810
HP:0025155	Abnormality of hepatobiliary system physiology	55764	IFT122	OMIM:218330
HP:0025155	Abnormality of hepatobiliary system physiology	1716	DGUOK	OMIM:251880
HP:0025155	Abnormality of hepatobiliary system physiology	9971	NR1H4	OMIM:617049
HP:0025155	Abnormality of hepatobiliary system physiology	25839	COG4	OMIM:613489
HP:0025155	Abnormality of hepatobiliary system physiology	788	SLC25A20	ORPHA:159
HP:0025155	Abnormality of hepatobiliary system physiology	8241	RBM10	OMIM:311900
HP:0025155	Abnormality of hepatobiliary system physiology	7840	ALMS1	ORPHA:64
HP:0025155	Abnormality of hepatobiliary system physiology	9056	SLC7A7	ORPHA:470
HP:0025155	Abnormality of hepatobiliary system physiology	80270	HSD3B7	OMIM:607765
HP:0025155	Abnormality of hepatobiliary system physiology	51241	COX16	OMIM:619355
HP:0025155	Abnormality of hepatobiliary system physiology	570	BAAT	OMIM:619232
HP:0025155	Abnormality of hepatobiliary system physiology	54914	FOCAD	OMIM:619991
HP:0025155	Abnormality of hepatobiliary system physiology	8364	H4C3	OMIM:619758
HP:0025155	Abnormality of hepatobiliary system physiology	5265	SERPINA1	ORPHA:60
HP:0025155	Abnormality of hepatobiliary system physiology	5428	POLG	OMIM:203700
HP:0025155	Abnormality of hepatobiliary system physiology	23600	AMACR	OMIM:214950
HP:0025155	Abnormality of hepatobiliary system physiology	378884	NHLRC1	ORPHA:501
HP:0025155	Abnormality of hepatobiliary system physiology	378884	NHLRC1	OMIM:254780
HP:0025155	Abnormality of hepatobiliary system physiology	7957	EPM2A	ORPHA:501
HP:0025155	Abnormality of hepatobiliary system physiology	7957	EPM2A	OMIM:254780
HP:0025155	Abnormality of hepatobiliary system physiology	3594	IL12RB1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	23534	TNPO3	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	3592	IL12A	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	6689	SPIB	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	5450	POU2AF1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	9966	TNFSF15	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	79258	MMEL1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	3663	IRF5	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	5106	PCK2	OMIM:261650
HP:0025155	Abnormality of hepatobiliary system physiology	50615	IL21R	OMIM:615207
HP:0025155	Abnormality of hepatobiliary system physiology	182	JAG1	OMIM:118450
HP:0025155	Abnormality of hepatobiliary system physiology	28976	ACAD9	OMIM:611126
HP:0025155	Abnormality of hepatobiliary system physiology	6514	SLC2A2	ORPHA:2088
HP:0025155	Abnormality of hepatobiliary system physiology	540	ATP7B	OMIM:277900
HP:0025155	Abnormality of hepatobiliary system physiology	2271	FH	OMIM:606812
HP:0025155	Abnormality of hepatobiliary system physiology	9076	CLDN1	OMIM:607626
HP:0025155	Abnormality of hepatobiliary system physiology	2658	GDF2	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	94	ACVRL1	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	4089	SMAD4	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	2022	ENG	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	51081	MRPS7	OMIM:617872
HP:0025155	Abnormality of hepatobiliary system physiology	9652	SKIC3	OMIM:222470
HP:0025155	Abnormality of hepatobiliary system physiology	4724	NDUFS4	OMIM:252010
HP:0025155	Abnormality of hepatobiliary system physiology	29960	MRM2	OMIM:618567
HP:0025155	Abnormality of hepatobiliary system physiology	5824	PEX19	OMIM:614886
HP:0025155	Abnormality of hepatobiliary system physiology	5824	PEX19	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	84317	CCDC115	OMIM:616828
HP:0025155	Abnormality of hepatobiliary system physiology	2184	FAH	OMIM:276700
HP:0025155	Abnormality of hepatobiliary system physiology	1376	CPT2	ORPHA:228305
HP:0025155	Abnormality of hepatobiliary system physiology	1376	CPT2	ORPHA:228308
HP:0025155	Abnormality of hepatobiliary system physiology	28962	OSTM1	OMIM:259720
HP:0025155	Abnormality of hepatobiliary system physiology	1616	DAXX	ORPHA:100075
HP:0025155	Abnormality of hepatobiliary system physiology	546	ATRX	ORPHA:100075
HP:0025155	Abnormality of hepatobiliary system physiology	5825	ABCD3	OMIM:616278
HP:0025155	Abnormality of hepatobiliary system physiology	80169	CTC1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	26277	TINF2	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55651	NHP2	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	79650	USB1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55135	WRAP53	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	51750	RTEL1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	4869	NPM1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7012	TERC	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55505	NOP10	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	5073	PARN	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7015	TERT	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	1736	DKC1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7298	TYMS	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	57410	SCYL1	OMIM:616719
HP:0025155	Abnormality of hepatobiliary system physiology	8504	PEX3	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	8799	PEX11B	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5830	PEX5	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5189	PEX1	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5193	PEX12	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5195	PEX14	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5277	PIGA	OMIM:301072
HP:0025155	Abnormality of hepatobiliary system physiology	10159	ATP6AP2	OMIM:301045
HP:0025155	Abnormality of hepatobiliary system physiology	171023	ASXL1	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	54790	TET2	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	867	CBL	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	861	RUNX1	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	6427	SRSF2	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	91949	COG7	OMIM:608779
HP:0025155	Abnormality of hepatobiliary system physiology	1738	DLD	OMIM:246900
HP:0025155	Abnormality of hepatobiliary system physiology	3376	IARS1	OMIM:617093
HP:0025155	Abnormality of hepatobiliary system physiology	57003	CCDC47	OMIM:618268
HP:0025155	Abnormality of hepatobiliary system physiology	4574	MT-TS1	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	4570	MT-TN	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	6834	SURF1	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	6834	SURF1	ORPHA:70474
HP:0025155	Abnormality of hepatobiliary system physiology	5190	PEX6	OMIM:614863
HP:0025155	Abnormality of hepatobiliary system physiology	2592	GALT	OMIM:230400
HP:0025155	Abnormality of hepatobiliary system physiology	5828	PEX2	OMIM:614867
HP:0025155	Abnormality of hepatobiliary system physiology	84334	COA8	ORPHA:436271
HP:0025155	Abnormality of hepatobiliary system physiology	1650	DDOST	OMIM:614507
HP:0025155	Abnormality of hepatobiliary system physiology	10056	FARSB	OMIM:613658
HP:0025155	Abnormality of hepatobiliary system physiology	6261	RYR1	ORPHA:466650
HP:0025155	Abnormality of hepatobiliary system physiology	10128	LRPPRC	ORPHA:70472
HP:0025155	Abnormality of hepatobiliary system physiology	25915	NDUFAF3	ORPHA:70474
HP:0025155	Abnormality of hepatobiliary system physiology	4714	NDUFB8	ORPHA:70474
HP:0025155	Abnormality of hepatobiliary system physiology	4720	NDUFS2	ORPHA:70474
HP:0025155	Abnormality of hepatobiliary system physiology	9997	SCO2	ORPHA:70474
HP:0025155	Abnormality of hepatobiliary system physiology	56052	ALG1	ORPHA:79327
HP:0025155	Abnormality of hepatobiliary system physiology	5551	PRF1	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	8676	STX11	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	201294	UNC13D	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	6813	STXBP2	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	3043	HBB	ORPHA:231222
HP:0025155	Abnormality of hepatobiliary system physiology	22796	COG2	ORPHA:435934
HP:0025155	Abnormality of hepatobiliary system physiology	23395	LARS2	OMIM:617021
HP:0025155	Abnormality of hepatobiliary system physiology	7385	UQCRC2	OMIM:615160
HP:0025155	Abnormality of hepatobiliary system physiology	51601	LIPT1	OMIM:616299
HP:0025155	Abnormality of hepatobiliary system physiology	5192	PEX10	OMIM:614870
HP:0025155	Abnormality of hepatobiliary system physiology	5192	PEX10	OMIM:614871
HP:0025155	Abnormality of hepatobiliary system physiology	55278	QRSL1	OMIM:618835
HP:0025155	Abnormality of hepatobiliary system physiology	55670	PEX26	OMIM:614873
HP:0025155	Abnormality of hepatobiliary system physiology	54931	TRMT10C	OMIM:616974
HP:0025155	Abnormality of hepatobiliary system physiology	644	BLVRA	OMIM:614156
HP:0025155	Abnormality of hepatobiliary system physiology	51649	MRPS23	OMIM:618952
HP:0025155	Abnormality of hepatobiliary system physiology	9409	PEX16	OMIM:614877
HP:0025155	Abnormality of hepatobiliary system physiology	25973	PARS2	OMIM:618437
HP:0025155	Abnormality of hepatobiliary system physiology	100506658	OCLN	OMIM:251290
HP:0025155	Abnormality of hepatobiliary system physiology	283459	GATC	OMIM:618839
HP:0025155	Abnormality of hepatobiliary system physiology	617	BCS1L	OMIM:124000
HP:0025155	Abnormality of hepatobiliary system physiology	10166	SLC25A15	ORPHA:415
HP:0025155	Abnormality of hepatobiliary system physiology	10166	SLC25A15	OMIM:238970
HP:0025155	Abnormality of hepatobiliary system physiology	9968	MED12	OMIM:301068
HP:0025155	Abnormality of hepatobiliary system physiology	4351	MPI	ORPHA:79319
HP:0025155	Abnormality of hepatobiliary system physiology	34	ACADM	ORPHA:42
HP:0025155	Abnormality of hepatobiliary system physiology	6609	SMPD1	ORPHA:77293
HP:0025155	Abnormality of hepatobiliary system physiology	2954	GSTZ1	OMIM:617596
HP:0025155	Abnormality of hepatobiliary system physiology	125988	MICOS13	OMIM:618329
HP:0025155	Abnormality of hepatobiliary system physiology	738	VPS51	OMIM:618606
HP:0025155	Abnormality of hepatobiliary system physiology	5194	PEX13	OMIM:614883
HP:0025155	Abnormality of hepatobiliary system physiology	130589	GALM	ORPHA:570422
HP:0025155	Abnormality of hepatobiliary system physiology	55005	RMND1	OMIM:614922
HP:0025155	Abnormality of hepatobiliary system physiology	147007	TMEM199	OMIM:616829
HP:0025155	Abnormality of hepatobiliary system physiology	10195	ALG3	ORPHA:79321
HP:0025155	Abnormality of hepatobiliary system physiology	1130	LYST	ORPHA:167
HP:0025155	Abnormality of hepatobiliary system physiology	23193	GANAB	OMIM:600666
HP:0025155	Abnormality of hepatobiliary system physiology	55532	SLC30A10	OMIM:613280
HP:0025155	Abnormality of hepatobiliary system physiology	8772	FADD	ORPHA:306550
HP:0025155	Abnormality of hepatobiliary system physiology	79053	ALG8	OMIM:608104
HP:0025155	Abnormality of hepatobiliary system physiology	6888	TALDO1	OMIM:606003
HP:0025155	Abnormality of hepatobiliary system physiology	2235	FECH	ORPHA:79278
HP:0025155	Abnormality of hepatobiliary system physiology	56244	BTNL2	ORPHA:797
HP:0025155	Abnormality of hepatobiliary system physiology	3123	HLA-DRB1	ORPHA:797
HP:0025155	Abnormality of hepatobiliary system physiology	267010	RNU12	ORPHA:512260
HP:0025155	Abnormality of hepatobiliary system physiology	11232	POLG2	OMIM:618528
HP:0025155	Abnormality of hepatobiliary system physiology	85476	GFM1	OMIM:609060
HP:0025155	Abnormality of hepatobiliary system physiology	10068	IL18BP	OMIM:618549
HP:0025155	Abnormality of hepatobiliary system physiology	3875	KRT18	OMIM:215600
HP:0025155	Abnormality of hepatobiliary system physiology	331	XIAP	OMIM:308240
HP:0025155	Abnormality of hepatobiliary system physiology	4068	SH2D1A	OMIM:308240
HP:0025155	Abnormality of hepatobiliary system physiology	10320	IKZF1	ORPHA:36426
HP:0025155	Abnormality of hepatobiliary system physiology	811	CALR	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	3717	JAK2	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	2153	F5	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	51594	NBAS	OMIM:616483
HP:0025155	Abnormality of hepatobiliary system physiology	55687	TRMU	OMIM:613070
HP:0025155	Abnormality of hepatobiliary system physiology	60561	RINT1	OMIM:618641
HP:0025155	Abnormality of hepatobiliary system physiology	1537	CYC1	OMIM:615453
HP:0025155	Abnormality of hepatobiliary system physiology	64840	PORCN	ORPHA:2092
HP:0025155	Abnormality of hepatobiliary system physiology	51520	LARS1	OMIM:615438
HP:0025155	Abnormality of hepatobiliary system physiology	83737	ITCH	ORPHA:228426
HP:0025155	Abnormality of hepatobiliary system physiology	779	CACNA1S	ORPHA:423
HP:0025155	Abnormality of hepatobiliary system physiology	9451	EIF2AK3	ORPHA:1667
HP:0025155	Abnormality of hepatobiliary system physiology	4210	MEFV	ORPHA:342
HP:0025155	Abnormality of hepatobiliary system physiology	57169	ZNFX1	OMIM:619644
HP:0025155	Abnormality of hepatobiliary system physiology	3033	HADH	ORPHA:71212
HP:0025155	Abnormality of hepatobiliary system physiology	87178	PNPT1	OMIM:614932
HP:0025155	Abnormality of hepatobiliary system physiology	64116	SLC39A8	ORPHA:468699
HP:0025155	Abnormality of hepatobiliary system physiology	162417	NAGS	ORPHA:927
HP:0025155	Abnormality of hepatobiliary system physiology	3155	HMGCL	ORPHA:20
HP:0025155	Abnormality of hepatobiliary system physiology	2203	FBP1	ORPHA:348
HP:0025155	Abnormality of hepatobiliary system physiology	4864	NPC1	OMIM:257220
HP:0025155	Abnormality of hepatobiliary system physiology	4576	MT-TT	ORPHA:254857
HP:0025155	Abnormality of hepatobiliary system physiology	56623	INPP5E	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	91147	TMEM67	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	57545	CC2D2A	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	654	BMP6	ORPHA:465508
HP:0025155	Abnormality of hepatobiliary system physiology	3077	HFE	ORPHA:465508
HP:0025155	Abnormality of hepatobiliary system physiology	3032	HADHB	ORPHA:746
HP:0025155	Abnormality of hepatobiliary system physiology	3030	HADHA	ORPHA:746
HP:0025155	Abnormality of hepatobiliary system physiology	2859	GPR35	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	10507	SEMA4D	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	4485	MST1	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	6925	TCF4	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	3431	SP110	ORPHA:79124
HP:0025155	Abnormality of hepatobiliary system physiology	229	ALDOB	ORPHA:469
HP:0025156	Dependency on intravenous nutrition	9652	SKIC3	ORPHA:84064
HP:0025156	Dependency on intravenous nutrition	6499	SKIC2	ORPHA:84064
HP:0025156	Dependency on intravenous nutrition	50943	FOXP3	ORPHA:37042
HP:0025157	Increased urinary sedoheptulose	23729	SHPK	OMIM:617213
HP:0025158	Hyperautofluorescent retinal lesion	3419	IDH3A	OMIM:619007
HP:0025158	Hyperautofluorescent retinal lesion	57670	KIAA1549	OMIM:618613
HP:0025158	Hyperautofluorescent retinal lesion	9371	KIF3B	OMIM:618955
HP:0025158	Hyperautofluorescent retinal lesion	2202	EFEMP1	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	3075	CFH	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	3426	CFI	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	157657	CFAP418	OMIM:617406
HP:0025158	Hyperautofluorescent retinal lesion	84100	ARL6	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	79140	CCDC28B	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	582	BBS1	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	83723	TLCD3B	OMIM:619531
HP:0025158	Hyperautofluorescent retinal lesion	5961	PRPH2	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	3000	GUCY2D	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	2978	GUCA1A	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	55624	POMGNT1	OMIM:617123
HP:0025158	Hyperautofluorescent retinal lesion	22901	ARSG	OMIM:618144
HP:0025159	Hypoautofluorescent retinal lesion	10283	CWC27	OMIM:250410
HP:0025159	Hypoautofluorescent retinal lesion	83723	TLCD3B	OMIM:619531
HP:0025159	Hypoautofluorescent retinal lesion	2202	EFEMP1	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	3075	CFH	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	3426	CFI	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	6103	RPGR	OMIM:300029
HP:0025159	Hypoautofluorescent retinal lesion	55857	KIZ	OMIM:615780
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177904
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177901
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177907
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:98754
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:177904
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:177901
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:98754
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:177904
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:177901
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:398069
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:98754
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:177904
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:177901
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:98754
HP:0025160	Abnormal temper tantrums	23394	ADNP	ORPHA:404448
HP:0025160	Abnormal temper tantrums	7874	USP7	ORPHA:500055
HP:0025160	Abnormal temper tantrums	10664	CTCF	ORPHA:363611
HP:0025160	Abnormal temper tantrums	2629	GBA1	ORPHA:2072
HP:0025160	Abnormal temper tantrums	2332	FMR1	ORPHA:449291
HP:0025160	Abnormal temper tantrums	347733	TUBB2B	ORPHA:300573
HP:0025160	Abnormal temper tantrums	5528	PPP2R5D	ORPHA:457279
HP:0025160	Abnormal temper tantrums	26047	CNTNAP2	ORPHA:163681
HP:0025160	Abnormal temper tantrums	6492	SIM1	ORPHA:171829
HP:0025160	Abnormal temper tantrums	6492	SIM1	ORPHA:398079
HP:0025160	Abnormal temper tantrums	55690	PACS1	ORPHA:329224
HP:0025160	Abnormal temper tantrums	10847	SRCAP	ORPHA:2044
HP:0025160	Abnormal temper tantrums	1499	CTNNB1	ORPHA:404473
HP:0025160	Abnormal temper tantrums	11011	TLK2	OMIM:618050
HP:0025160	Abnormal temper tantrums	23314	SATB2	OMIM:612313
HP:0025160	Abnormal temper tantrums	1457	CSNK2A1	OMIM:617062
HP:0025160	Abnormal temper tantrums	57551	TAOK1	OMIM:619575
HP:0025160	Abnormal temper tantrums	10524	KAT5	OMIM:619103
HP:0025160	Abnormal temper tantrums	1182	CLCN3	OMIM:619512
HP:0025160	Abnormal temper tantrums	26040	SETBP1	OMIM:616078
HP:0025160	Abnormal temper tantrums	10093	ARPC4	OMIM:620141
HP:0025160	Abnormal temper tantrums	10352	WARS2	OMIM:617710
HP:0025160	Abnormal temper tantrums	51204	TACO1	OMIM:619052
HP:0025160	Abnormal temper tantrums	2770	GNAI1	OMIM:619854
HP:0025160	Abnormal temper tantrums	51319	RSRC1	OMIM:618402
HP:0025160	Abnormal temper tantrums	6334	SCN8A	OMIM:614306
HP:0025160	Abnormal temper tantrums	5977	DPF2	OMIM:618027
HP:0025161	Frequent temper tantrums	11011	TLK2	OMIM:618050
HP:0025161	Frequent temper tantrums	23314	SATB2	OMIM:612313
HP:0025161	Frequent temper tantrums	1457	CSNK2A1	OMIM:617062
HP:0025161	Frequent temper tantrums	57551	TAOK1	OMIM:619575
HP:0025161	Frequent temper tantrums	10524	KAT5	OMIM:619103
HP:0025161	Frequent temper tantrums	1182	CLCN3	OMIM:619512
HP:0025161	Frequent temper tantrums	26040	SETBP1	OMIM:616078
HP:0025161	Frequent temper tantrums	10093	ARPC4	OMIM:620141
HP:0025162	Severe temper tantrums	10352	WARS2	OMIM:617710
HP:0025162	Severe temper tantrums	51204	TACO1	OMIM:619052
HP:0025162	Severe temper tantrums	2770	GNAI1	OMIM:619854
HP:0025162	Severe temper tantrums	51319	RSRC1	OMIM:618402
HP:0025162	Severe temper tantrums	6334	SCN8A	OMIM:614306
HP:0025162	Severe temper tantrums	5977	DPF2	OMIM:618027
HP:0025163	Abnormality of optic chiasm morphology	1859	DYRK1A	ORPHA:268261
HP:0025163	Abnormality of optic chiasm morphology	3954	LETM1	OMIM:620089
HP:0025163	Abnormality of optic chiasm morphology	7345	UCHL1	OMIM:615491
HP:0025163	Abnormality of optic chiasm morphology	220	ALDH1A3	OMIM:615113
HP:0025163	Abnormality of optic chiasm morphology	51112	TRAPPC12	OMIM:617669
HP:0025163	Abnormality of optic chiasm morphology	4976	OPA1	OMIM:210000
HP:0025167	Fragmented elastic fibers in the dermis	23545	ATP6V0A2	ORPHA:2834
HP:0025167	Fragmented elastic fibers in the dermis	23545	ATP6V0A2	ORPHA:357074
HP:0025167	Fragmented elastic fibers in the dermis	340665	CYP26C1	ORPHA:398189
HP:0025167	Fragmented elastic fibers in the dermis	2006	ELN	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	10516	FBLN5	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	10516	FBLN5	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	5832	ALDH18A1	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	4052	LTBP1	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	30008	EFEMP2	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	523	ATP6V1A	ORPHA:357074
HP:0025167	Fragmented elastic fibers in the dermis	529	ATP6V1E1	ORPHA:357074
HP:0025168	Left ventricular diastolic dysfunction	4000	LMNA	ORPHA:740
HP:0025168	Left ventricular diastolic dysfunction	10269	ZMPSTE24	ORPHA:740
HP:0025168	Left ventricular diastolic dysfunction	57538	ALPK3	OMIM:618052
HP:0025168	Left ventricular diastolic dysfunction	171019	ADAMTS19	OMIM:620067
HP:0025168	Left ventricular diastolic dysfunction	63976	PRDM16	OMIM:615373
HP:0025169	Left ventricular systolic dysfunction	7156	TOP3A	OMIM:618098
HP:0025169	Left ventricular systolic dysfunction	291	SLC25A4	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	5428	POLG	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	56652	TWNK	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	11232	POLG2	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	50484	RRM2B	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	79717	PPCS	OMIM:618189
HP:0025169	Left ventricular systolic dysfunction	37	ACADVL	OMIM:201475
HP:0025169	Left ventricular systolic dysfunction	4607	MYBPC3	OMIM:115197
HP:0025169	Left ventricular systolic dysfunction	4624	MYH6	OMIM:613252
HP:0025169	Left ventricular systolic dysfunction	5664	PSEN2	OMIM:613697
HP:0025169	Left ventricular systolic dysfunction	4878	NPPA	OMIM:612201
HP:0025169	Left ventricular systolic dysfunction	4878	NPPA	ORPHA:1344
HP:0025169	Left ventricular systolic dysfunction	3910	LAMA4	OMIM:615235
HP:0025169	Left ventricular systolic dysfunction	7139	TNNT2	OMIM:115195
HP:0025169	Left ventricular systolic dysfunction	7139	TNNT2	OMIM:601494
HP:0025169	Left ventricular systolic dysfunction	7139	TNNT2	OMIM:612422
HP:0025169	Left ventricular systolic dysfunction	5894	RAF1	OMIM:615916
HP:0025169	Left ventricular systolic dysfunction	8291	DYSF	ORPHA:268
HP:0025169	Left ventricular systolic dysfunction	1674	DES	OMIM:604765
HP:0025169	Left ventricular systolic dysfunction	80206	FHOD3	OMIM:619402
HP:0025169	Left ventricular systolic dysfunction	57798	GATAD1	OMIM:614672
HP:0025169	Left ventricular systolic dysfunction	7276	TTR	ORPHA:85451
HP:0025169	Left ventricular systolic dysfunction	4625	MYH7	OMIM:613426
HP:0025169	Left ventricular systolic dysfunction	3908	LAMA2	ORPHA:258
HP:0025169	Left ventricular systolic dysfunction	7414	VCL	OMIM:611407
HP:0025169	Left ventricular systolic dysfunction	58528	RRAGD	OMIM:620152
HP:0025169	Left ventricular systolic dysfunction	6123	RPL3L	OMIM:619371
HP:0025169	Left ventricular systolic dysfunction	388753	COA6	OMIM:616501
HP:0025169	Left ventricular systolic dysfunction	2702	GJA5	OMIM:614049
HP:0025169	Left ventricular systolic dysfunction	6331	SCN5A	ORPHA:1344
HP:0025169	Left ventricular systolic dysfunction	6331	SCN5A	OMIM:601154
HP:0025169	Left ventricular systolic dysfunction	439	GET3	OMIM:620203
HP:0025169	Left ventricular systolic dysfunction	7716	VEZF1	OMIM:620247
HP:0025169	Left ventricular systolic dysfunction	91624	NEXN	OMIM:613876
HP:0025169	Left ventricular systolic dysfunction	91624	NEXN	OMIM:613122
HP:0025169	Left ventricular systolic dysfunction	2218	FKTN	OMIM:611615
HP:0025169	Left ventricular systolic dysfunction	4634	MYL3	OMIM:608751
HP:0025169	Left ventricular systolic dysfunction	51778	MYOZ2	OMIM:613838
HP:0025169	Left ventricular systolic dysfunction	57505	AARS2	OMIM:614096
HP:0025169	Left ventricular systolic dysfunction	3762	KCNJ5	OMIM:613485
HP:0025169	Left ventricular systolic dysfunction	7134	TNNC1	OMIM:613243
HP:0025169	Left ventricular systolic dysfunction	6389	SDHA	OMIM:613642
HP:0025169	Left ventricular systolic dysfunction	7273	TTN	OMIM:604145
HP:0025169	Left ventricular systolic dysfunction	6444	SGCD	OMIM:606685
HP:0025169	Left ventricular systolic dysfunction	567	B2M	ORPHA:314652
HP:0025169	Left ventricular systolic dysfunction	1410	CRYAB	OMIM:615184
HP:0025169	Left ventricular systolic dysfunction	5663	PSEN1	OMIM:613694
HP:0025169	Left ventricular systolic dysfunction	9529	BAG5	OMIM:619747
HP:0025169	Left ventricular systolic dysfunction	1829	DSG2	OMIM:612877
HP:0025169	Left ventricular systolic dysfunction	3920	LAMP2	OMIM:300257
HP:0025169	Left ventricular systolic dysfunction	442721	LMOD2	OMIM:619897
HP:0025169	Left ventricular systolic dysfunction	84705	GTPBP3	ORPHA:444013
HP:0025169	Left ventricular systolic dysfunction	7137	TNNI3	OMIM:613286
HP:0025169	Left ventricular systolic dysfunction	6445	SGCG	ORPHA:353
HP:0025169	Left ventricular systolic dysfunction	4000	LMNA	ORPHA:740
HP:0025169	Left ventricular systolic dysfunction	10269	ZMPSTE24	ORPHA:740
HP:0025169	Left ventricular systolic dysfunction	282996	RBM20	OMIM:613172
HP:0025169	Left ventricular systolic dysfunction	5167	ENPP1	ORPHA:51608
HP:0025169	Left ventricular systolic dysfunction	368	ABCC6	ORPHA:51608
HP:0025169	Left ventricular systolic dysfunction	63976	PRDM16	OMIM:615373
HP:0025169	Left ventricular systolic dysfunction	6392	SDHD	OMIM:619167
HP:0025169	Left ventricular systolic dysfunction	29954	POMT2	OMIM:613156
HP:0025169	Left ventricular systolic dysfunction	29954	POMT2	ORPHA:206559
HP:0025169	Left ventricular systolic dysfunction	6533	SLC6A6	OMIM:145350
HP:0025169	Left ventricular systolic dysfunction	10060	ABCC9	OMIM:619719
HP:0025169	Left ventricular systolic dysfunction	8048	CSRP3	OMIM:612124
HP:0025169	Left ventricular systolic dysfunction	54800	KLHL24	OMIM:620236
HP:0025175	Honeycomb lung	6440	SFTPC	ORPHA:2032
HP:0025175	Honeycomb lung	729238	SFTPA2	ORPHA:2032
HP:0025175	Honeycomb lung	79991	STN1	ORPHA:2032
HP:0025175	Honeycomb lung	653509	SFTPA1	ORPHA:2032
HP:0025175	Honeycomb lung	21	ABCA3	ORPHA:2032
HP:0025175	Honeycomb lung	21	ABCA3	OMIM:610921
HP:0025175	Honeycomb lung	1832	DSP	ORPHA:2032
HP:0025175	Honeycomb lung	727897	MUC5B	ORPHA:2032
HP:0025175	Honeycomb lung	10144	FAM13A	ORPHA:2032
HP:0025175	Honeycomb lung	23250	ATP11A	ORPHA:2032
HP:0025175	Honeycomb lung	91039	DPP9	ORPHA:2032
HP:0025175	Honeycomb lung	51750	RTEL1	ORPHA:2032
HP:0025175	Honeycomb lung	7012	TERC	ORPHA:2032
HP:0025175	Honeycomb lung	5073	PARN	ORPHA:2032
HP:0025175	Honeycomb lung	5073	PARN	OMIM:616371
HP:0025175	Honeycomb lung	7015	TERT	ORPHA:2032
HP:0025177	Peribronchovascular interstitial thickening	25981	DNAH1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	115948	ODAD3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54768	HYDIN	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	352909	DNAAF3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	27148	STK36	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	51314	NME8	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	92749	DRC1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54970	TTC12	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	152110	NEK10	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	8481	OFD1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	2302	FOXJ1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	221421	RSPH9	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	85478	CCDC65	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55036	CCDC40	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	51364	ZMYND10	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	64446	DNAI2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	6674	SPAG1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83544	DNAL1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	89765	RSPH1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83538	ODAD4	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	200373	CFAP221	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	374407	DNAJB13	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55172	DNAAF2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	161582	DNAAF4	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	2622	GAS8	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	23639	DNAAF11	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	27019	DNAI1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	345895	RSPH4A	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54919	DNAAF5	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	6103	RPGR	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	388389	CCDC103	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	93233	ODAD1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55130	ODAD2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	1767	DNAH5	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83861	RSPH3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	345643	MCIDAS	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	56683	CFAP298	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	79925	SPEF2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	10309	CCNO	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	115399	LRRC56	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	139212	DNAAF6	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	123872	DNAAF1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	85016	CFAP300	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	339829	CCDC39	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	8701	DNAH11	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	1770	DNAH9	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	246176	GAS2L2	ORPHA:244
HP:0025178	Subpleural interstitial thickening	10568	SLC34A2	ORPHA:60025
HP:0025179	Ground-glass opacification	6439	SFTPB	OMIM:265120
HP:0025179	Ground-glass opacification	3115	HLA-DPB1	ORPHA:133
HP:0025179	Ground-glass opacification	1438	CSF2RA	OMIM:300770
HP:0025179	Ground-glass opacification	64135	IFIH1	OMIM:619773
HP:0025179	Ground-glass opacification	653509	SFTPA1	OMIM:619611
HP:0025179	Ground-glass opacification	653509	SFTPA1	ORPHA:2032
HP:0025179	Ground-glass opacification	6440	SFTPC	ORPHA:2032
HP:0025179	Ground-glass opacification	6440	SFTPC	OMIM:610913
HP:0025179	Ground-glass opacification	729238	SFTPA2	ORPHA:2032
HP:0025179	Ground-glass opacification	79991	STN1	ORPHA:2032
HP:0025179	Ground-glass opacification	21	ABCA3	ORPHA:2032
HP:0025179	Ground-glass opacification	21	ABCA3	OMIM:610921
HP:0025179	Ground-glass opacification	1832	DSP	ORPHA:2032
HP:0025179	Ground-glass opacification	727897	MUC5B	ORPHA:2032
HP:0025179	Ground-glass opacification	10144	FAM13A	ORPHA:2032
HP:0025179	Ground-glass opacification	23250	ATP11A	ORPHA:2032
HP:0025179	Ground-glass opacification	91039	DPP9	ORPHA:2032
HP:0025179	Ground-glass opacification	51750	RTEL1	ORPHA:2032
HP:0025179	Ground-glass opacification	7012	TERC	ORPHA:2032
HP:0025179	Ground-glass opacification	5073	PARN	ORPHA:2032
HP:0025179	Ground-glass opacification	7015	TERT	ORPHA:2032
HP:0025179	Ground-glass opacification	440275	EIF2AK4	ORPHA:199241
HP:0025179	Ground-glass opacification	1439	CSF2RB	OMIM:614370
HP:0025179	Ground-glass opacification	10568	SLC34A2	ORPHA:60025
HP:0025179	Ground-glass opacification	10551	AGR2	OMIM:620233
HP:0025179	Ground-glass opacification	7080	NKX2-1	OMIM:610978
HP:0025179	Ground-glass opacification	659	BMPR2	OMIM:265450
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	659	BMPR2	OMIM:265450
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	440275	EIF2AK4	OMIM:234810
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	440275	EIF2AK4	ORPHA:199241
HP:0025186	Marcus Gunn jaw winking synkinesis	23116	TOGARAM1	OMIM:619185
HP:0025186	Marcus Gunn jaw winking synkinesis	80232	WDR26	OMIM:617616
HP:0025186	Marcus Gunn jaw winking synkinesis	80232	WDR26	ORPHA:513456
HP:0025188	Retinal vasculitis	10625	IVNS1ABP	OMIM:618969
HP:0025188	Retinal vasculitis	3932	LCK	OMIM:615758
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10479	SLC9A6	OMIM:300243
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	114327	EFHC1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2563	GABRD	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1181	CLCN2	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2554	GABRA1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2554	GABRA1	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3786	KCNQ3	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	22858	CILK1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8629	JRK	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	785	CACNB4	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6335	SCN9A	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6326	SCN2A	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6324	SCN1B	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2566	GABRG2	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	7337	UBE3A	ORPHA:98795
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	427	ASAH1	ORPHA:2590
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	4677	NARS1	OMIM:619091
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	4677	NARS1	OMIM:619092
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1351	COX8A	OMIM:619059
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2629	GBA1	ORPHA:2072
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	149371	EXOC8	OMIM:619076
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	55275	VPS53	OMIM:615851
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10815	CPLX1	ORPHA:352582
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	57465	TBC1D24	ORPHA:352582
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3778	KCNMA1	OMIM:609446
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6513	SLC2A1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8831	SYNGAP1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1173	AP2M1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6323	SCN1A	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	340533	NEXMIF	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1106	CHD2	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6529	SLC6A1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	9289	ADGRG1	ORPHA:101070
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5728	PTEN	ORPHA:101070
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	57526	PCDH19	OMIM:300088
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2571	GAD1	OMIM:619124
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	51075	TMX2	OMIM:618730
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	84274	COQ5	OMIM:619028
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5833	PCYT2	OMIM:618770
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3658	IREB2	OMIM:618451
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	283989	TSEN54	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	116461	TSEN15	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	79042	TSEN34	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	80746	TSEN2	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	51091	SEPSECS	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	23031	MAST3	OMIM:620115
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2903	GRIN2A	ORPHA:98818
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2558	GABRA5	OMIM:618559
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5813	PURA	ORPHA:314655
HP:0011166	Focal myoclonic seizure	1203	CLN5	ORPHA:228360
HP:0011166	Focal myoclonic seizure	154881	KCTD7	ORPHA:263516
HP:0011166	Focal myoclonic seizure	2137	EXTL3	ORPHA:508533
HP:0011166	Focal myoclonic seizure	57531	HACE1	ORPHA:464282
HP:0011166	Focal myoclonic seizure	8943	AP3D1	OMIM:617050
HP:0011166	Focal myoclonic seizure	776	CACNA1D	ORPHA:369929
HP:0011166	Focal myoclonic seizure	6389	SDHA	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6390	SDHB	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6392	SDHD	ORPHA:3208
HP:0011166	Focal myoclonic seizure	644096	SDHAF1	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6304	SATB1	OMIM:619229
HP:0011166	Focal myoclonic seizure	29920	PYCR2	ORPHA:481152
HP:0011166	Focal myoclonic seizure	2903	GRIN2A	ORPHA:98818
HP:0011166	Focal myoclonic seizure	5428	POLG	OMIM:203700
HP:0011166	Focal myoclonic seizure	5457	POU4F1	ORPHA:314647
HP:0011166	Focal myoclonic seizure	23261	CAMTA1	ORPHA:314647
HP:0011166	Focal myoclonic seizure	501	ALDH7A1	ORPHA:3006
HP:0011166	Focal myoclonic seizure	11212	PLPBP	ORPHA:3006
HP:0011166	Focal myoclonic seizure	79751	SLC25A22	ORPHA:1935
HP:0011166	Focal myoclonic seizure	150094	SIK1	ORPHA:1935
HP:0011166	Focal myoclonic seizure	79583	TMEM231	ORPHA:2752
HP:0025193	Posterolateral diaphragmatic hernia	8425	LTBP4	OMIM:613177
HP:0025193	Posterolateral diaphragmatic hernia	7490	WT1	OMIM:194080
HP:0025194	Morgagni diaphragmatic hernia	8425	LTBP4	OMIM:613177
HP:0025194	Morgagni diaphragmatic hernia	6231	RPS26	OMIM:613309
HP:0025195	Central diaphragmatic hernia	8493	PPM1D	OMIM:617450
HP:0025195	Central diaphragmatic hernia	6598	SMARCB1	OMIM:614608
HP:0025196	Increased total iron binding capacity	9493	KIF23	ORPHA:98870
HP:0025196	Increased total iron binding capacity	29127	RACGAP1	ORPHA:98870
HP:0025196	Increased total iron binding capacity	55532	SLC30A10	OMIM:613280
HP:0025196	Increased total iron binding capacity	55532	SLC30A10	ORPHA:309854
HP:0025196	Increased total iron binding capacity	5825	ABCD3	OMIM:616278
HP:0025197	Inclusion body fibromatosis	2316	FLNA	ORPHA:88630
HP:0032909	Focal impaired awareness automatism seizure	10319	LAMC3	OMIM:614115
HP:0032929	Abnormal chondrocyte morphology	2317	FLNB	OMIM:108720
HP:0032929	Abnormal chondrocyte morphology	1836	SLC26A2	OMIM:256050
HP:0032930	Lacunar halos around chondrocytes	1836	SLC26A2	OMIM:256050
HP:0032933	Airway hyperresponsiveness	154	ADRB2	OMIM:600807
HP:0032933	Airway hyperresponsiveness	240	ALOX5	OMIM:600807
HP:0032933	Airway hyperresponsiveness	7941	PLA2G7	OMIM:600807
HP:0032933	Airway hyperresponsiveness	6356	CCL11	OMIM:600807
HP:0032933	Airway hyperresponsiveness	7124	TNF	OMIM:600807
HP:0032933	Airway hyperresponsiveness	3176	HNMT	OMIM:600807
HP:0032933	Airway hyperresponsiveness	4589	MUC7	OMIM:600807
HP:0032933	Airway hyperresponsiveness	117156	SCGB3A2	OMIM:600807
HP:0032933	Airway hyperresponsiveness	3135	HLA-G	OMIM:600807
HP:0032933	Airway hyperresponsiveness	3596	IL13	OMIM:600807
HP:0032934	Spontaneous cerebrospinal fluid leak	2200	FBN1	OMIM:154700
HP:0012500	Verrucous papule	488	ATP2A2	OMIM:101900
HP:0012500	Verrucous papule	7373	COL14A1	ORPHA:79501
HP:0012500	Verrucous papule	79719	AAGAB	ORPHA:79501
HP:0012501	Abnormal brainstem white matter morphology	80184	CEP290	OMIM:610188
HP:0012501	Abnormal brainstem white matter morphology	1593	CYP27A1	ORPHA:909
HP:0012501	Abnormal brainstem white matter morphology	26278	SACS	ORPHA:98
HP:0012501	Abnormal brainstem white matter morphology	4001	LMNB1	ORPHA:99027
HP:0012501	Abnormal brainstem white matter morphology	2313	FLI1	ORPHA:370348
HP:0012501	Abnormal brainstem white matter morphology	54806	AHI1	OMIM:608629
HP:0012501	Abnormal brainstem white matter morphology	79848	CSPP1	ORPHA:397715
HP:0012501	Abnormal brainstem white matter morphology	79848	CSPP1	OMIM:615636
HP:0012501	Abnormal brainstem white matter morphology	9786	KIAA0586	ORPHA:397715
HP:0012501	Abnormal brainstem white matter morphology	403	ARL3	OMIM:618161
HP:0012501	Abnormal brainstem white matter morphology	284217	LAMA1	ORPHA:370022
HP:0012501	Abnormal brainstem white matter morphology	51259	TMEM216	OMIM:608091
HP:0012501	Abnormal brainstem white matter morphology	56623	INPP5E	OMIM:213300
HP:0012501	Abnormal brainstem white matter morphology	91147	TMEM67	OMIM:610688
HP:0012501	Abnormal brainstem white matter morphology	1182	CLCN3	OMIM:619512
HP:0012501	Abnormal brainstem white matter morphology	4867	NPHP1	OMIM:609583
HP:0012501	Abnormal brainstem white matter morphology	215	ABCD1	ORPHA:139396
HP:0012502	Abnormality of the internal capsule	347733	TUBB2B	ORPHA:467166
HP:0012502	Abnormality of the internal capsule	10381	TUBB3	ORPHA:467166
HP:0012502	Abnormality of the internal capsule	7846	TUBA1A	ORPHA:171680
HP:0012502	Abnormality of the internal capsule	10367	MICU1	OMIM:615673
HP:0012503	Abnormality of the pituitary gland	7528	YY1	ORPHA:506358
HP:0012503	Abnormality of the pituitary gland	6909	TBX2	OMIM:618223
HP:0012503	Abnormality of the pituitary gland	23394	ADNP	OMIM:615873
HP:0012503	Abnormality of the pituitary gland	10785	WDR4	OMIM:618347
HP:0012503	Abnormality of the pituitary gland	22800	RRAS2	OMIM:618624
HP:0012503	Abnormality of the pituitary gland	8675	STX16	ORPHA:94089
HP:0012503	Abnormality of the pituitary gland	7681	MKRN3	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	3653	IPW	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	791114	PWRN1	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	100033413	SNORD116-1	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	8924	HERC2	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	145624	PWAR1	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	23742	NPAP1	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	338433	SNORD115-1	OMIM:176270
HP:0012503	Abnormality of the pituitary gland	27125	AFF4	ORPHA:444077
HP:0012503	Abnormality of the pituitary gland	55315	SLC29A3	OMIM:602782
HP:0012503	Abnormality of the pituitary gland	7707	ZNF148	OMIM:617260
HP:0012503	Abnormality of the pituitary gland	55159	RFWD3	OMIM:617784
HP:0012503	Abnormality of the pituitary gland	113179	ADAT3	ORPHA:363528
HP:0012503	Abnormality of the pituitary gland	113179	ADAT3	OMIM:615286
HP:0012503	Abnormality of the pituitary gland	55215	FANCI	OMIM:609053
HP:0012503	Abnormality of the pituitary gland	10908	PNPLA6	OMIM:275400
HP:0012503	Abnormality of the pituitary gland	2188	FANCF	OMIM:603467
HP:0012503	Abnormality of the pituitary gland	6777	STAT5B	OMIM:245590
HP:0012503	Abnormality of the pituitary gland	284058	KANSL1	ORPHA:363958
HP:0012503	Abnormality of the pituitary gland	284058	KANSL1	ORPHA:363965
HP:0012503	Abnormality of the pituitary gland	9581	PREPL	OMIM:616224
HP:0012503	Abnormality of the pituitary gland	55699	IARS2	ORPHA:436174
HP:0012503	Abnormality of the pituitary gland	55699	IARS2	OMIM:616007
HP:0012503	Abnormality of the pituitary gland	79184	BRCC3	ORPHA:280679
HP:0012503	Abnormality of the pituitary gland	5308	PITX2	OMIM:180500
HP:0012503	Abnormality of the pituitary gland	3481	IGF2	OMIM:180860
HP:0012503	Abnormality of the pituitary gland	157680	VPS13B	OMIM:216550
HP:0012503	Abnormality of the pituitary gland	25942	SIN3A	ORPHA:94065
HP:0012503	Abnormality of the pituitary gland	25942	SIN3A	OMIM:613406
HP:0012503	Abnormality of the pituitary gland	5718	PSMD12	ORPHA:529962
HP:0012503	Abnormality of the pituitary gland	2186	BPTF	ORPHA:529962
HP:0012503	Abnormality of the pituitary gland	4297	KMT2A	ORPHA:319182
HP:0012503	Abnormality of the pituitary gland	93627	TBCK	ORPHA:488632
HP:0012503	Abnormality of the pituitary gland	1028	CDKN1C	OMIM:614732
HP:0012503	Abnormality of the pituitary gland	57187	THOC2	ORPHA:457240
HP:0012503	Abnormality of the pituitary gland	54	ACP5	ORPHA:1855
HP:0012503	Abnormality of the pituitary gland	9056	SLC7A7	ORPHA:470
HP:0012503	Abnormality of the pituitary gland	84265	POLR3GL	OMIM:619234
HP:0012503	Abnormality of the pituitary gland	6905	TBCE	OMIM:241410
HP:0012503	Abnormality of the pituitary gland	54499	TMCO1	OMIM:213980
HP:0012503	Abnormality of the pituitary gland	2887	GRB10	ORPHA:96182
HP:0012503	Abnormality of the pituitary gland	5605	MAP2K2	OMIM:615280
HP:0012503	Abnormality of the pituitary gland	9702	CEP57	OMIM:614114
HP:0012503	Abnormality of the pituitary gland	9897	WASHC5	OMIM:220210
HP:0012503	Abnormality of the pituitary gland	2317	FLNB	ORPHA:1263
HP:0012503	Abnormality of the pituitary gland	695	BTK	OMIM:307200
HP:0012503	Abnormality of the pituitary gland	9526	MPDU1	ORPHA:79323
HP:0012503	Abnormality of the pituitary gland	5144	PDE4D	ORPHA:280651
HP:0012503	Abnormality of the pituitary gland	1513	CTSK	ORPHA:763
HP:0012503	Abnormality of the pituitary gland	79644	SRD5A3	ORPHA:324737
HP:0012503	Abnormality of the pituitary gland	1968	EIF2S3	OMIM:300148
HP:0012503	Abnormality of the pituitary gland	5426	POLE	OMIM:618336
HP:0012503	Abnormality of the pituitary gland	51053	GMNN	OMIM:616835
HP:0012503	Abnormality of the pituitary gland	6664	SOX11	OMIM:615866
HP:0012503	Abnormality of the pituitary gland	157570	ESCO2	OMIM:216100
HP:0012503	Abnormality of the pituitary gland	6469	SHH	OMIM:147250
HP:0012503	Abnormality of the pituitary gland	6469	SHH	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	145173	B3GLCT	ORPHA:709
HP:0012503	Abnormality of the pituitary gland	29926	GMPPA	ORPHA:869
HP:0012503	Abnormality of the pituitary gland	60684	TRAPPC11	ORPHA:869
HP:0012503	Abnormality of the pituitary gland	8086	AAAS	ORPHA:869
HP:0012503	Abnormality of the pituitary gland	83550	GPR101	ORPHA:963
HP:0012503	Abnormality of the pituitary gland	91147	TMEM67	OMIM:602152
HP:0012503	Abnormality of the pituitary gland	652	BMP4	OMIM:607932
HP:0012503	Abnormality of the pituitary gland	60401	EDA2R	ORPHA:181
HP:0012503	Abnormality of the pituitary gland	1896	EDA	ORPHA:181
HP:0012503	Abnormality of the pituitary gland	4509	MT-ATP8	ORPHA:480
HP:0012503	Abnormality of the pituitary gland	4567	MT-TL1	ORPHA:480
HP:0012503	Abnormality of the pituitary gland	50484	RRM2B	ORPHA:480
HP:0012503	Abnormality of the pituitary gland	28514	DLL1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	6496	SIX3	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	7050	TGIF1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	4838	NODAL	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	7546	ZIC2	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	6491	STIL	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	2619	GAS1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	84976	DISP1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	2736	GLI2	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	8928	FOXH1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	5727	PTCH1	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	50937	CDON	ORPHA:280195
HP:0012503	Abnormality of the pituitary gland	8626	TP63	ORPHA:1896
HP:0012503	Abnormality of the pituitary gland	9723	SEMA3E	ORPHA:138
HP:0012503	Abnormality of the pituitary gland	10371	SEMA3A	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	81848	SPRY4	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	23767	FLRT3	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	128674	PROKR2	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	79625	NDNF	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	389549	FEZF1	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	1630	DCC	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	3730	ANOS1	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	54756	IL17RD	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	6663	SOX10	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	285025	CCDC141	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	60675	PROK2	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	1848	DUSP6	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	6870	TACR3	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	55717	WDR11	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	8820	HESX1	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	8822	FGF17	ORPHA:478
HP:0012503	Abnormality of the pituitary gland	5456	POU3F4	ORPHA:1435
HP:0012503	Abnormality of the pituitary gland	340719	NANOS1	ORPHA:399808
HP:0012503	Abnormality of the pituitary gland	340719	NANOS1	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	668	FOXL2	OMIM:110100
HP:0012503	Abnormality of the pituitary gland	2492	FSHR	ORPHA:64739
HP:0012503	Abnormality of the pituitary gland	2492	FSHR	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	2492	FSHR	OMIM:233300
HP:0012503	Abnormality of the pituitary gland	7490	WT1	ORPHA:347
HP:0012503	Abnormality of the pituitary gland	7490	WT1	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	3973	LHCGR	OMIM:238320
HP:0012503	Abnormality of the pituitary gland	29893	PSMC3IP	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	171568	POLR3H	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	2516	NR5A1	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	2516	NR5A1	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	2516	NR5A1	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	125150	ZSWIM7	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	9210	BMP15	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	57122	NUP107	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	23514	SPIDR	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	56945	MRPS22	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	646	BNC1	ORPHA:243
HP:0012503	Abnormality of the pituitary gland	2099	ESR1	ORPHA:785
HP:0012503	Abnormality of the pituitary gland	23395	LARS2	OMIM:615300
HP:0012503	Abnormality of the pituitary gland	2332	FMR1	OMIM:311360
HP:0012503	Abnormality of the pituitary gland	6736	SRY	ORPHA:1772
HP:0012503	Abnormality of the pituitary gland	6736	SRY	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	3295	HSD17B4	OMIM:233400
HP:0012503	Abnormality of the pituitary gland	6662	SOX9	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	6845	VAMP7	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	51741	WWOX	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	4214	MAP3K1	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	58524	DMRT3	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	57647	DHX37	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	23414	ZFPM2	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	190	NR0B1	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	2626	GATA4	ORPHA:251510
HP:0012503	Abnormality of the pituitary gland	5422	POLA1	ORPHA:163976
HP:0012503	Abnormality of the pituitary gland	56154	TEX15	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	6875	TAF4B	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	56155	TEX14	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	7516	XRCC2	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	254528	MEIOB	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	91057	CCDC34	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	402381	SOHLH1	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	317719	KLHL10	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	56159	TEX11	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	57697	FANCM	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	1080	CFTR	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	84225	ZMYND15	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	122402	TDRD9	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	154197	PNLDC1	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	93426	SYCE1	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	50511	SYCP3	ORPHA:399805
HP:0012503	Abnormality of the pituitary gland	1586	CYP17A1	ORPHA:90793
HP:0012503	Abnormality of the pituitary gland	50846	DHH	ORPHA:168563
HP:0012503	Abnormality of the pituitary gland	5373	PMM2	ORPHA:79318
HP:0012503	Abnormality of the pituitary gland	3248	HPGD	ORPHA:2796
HP:0012503	Abnormality of the pituitary gland	6578	SLCO2A1	ORPHA:2796
HP:0012503	Abnormality of the pituitary gland	3767	KCNJ11	ORPHA:79644
HP:0012503	Abnormality of the pituitary gland	3479	IGF1	OMIM:608747
HP:0012503	Abnormality of the pituitary gland	50940	PDE11A	ORPHA:1359
HP:0012503	Abnormality of the pituitary gland	7466	WFS1	ORPHA:411590
HP:0012503	Abnormality of the pituitary gland	551	AVP	OMIM:125700
HP:0012503	Abnormality of the pituitary gland	54675	CRLS1	OMIM:620167
HP:0012503	Abnormality of the pituitary gland	55154	MSTO1	OMIM:617675
HP:0012503	Abnormality of the pituitary gland	55154	MSTO1	ORPHA:502423
HP:0012503	Abnormality of the pituitary gland	5618	PRLR	OMIM:615555
HP:0012503	Abnormality of the pituitary gland	11128	POLR3A	ORPHA:3455
HP:0012503	Abnormality of the pituitary gland	23247	KATNIP	OMIM:616784
HP:0012503	Abnormality of the pituitary gland	7737	RNF113A	OMIM:300953
HP:0012503	Abnormality of the pituitary gland	10735	STAG2	ORPHA:220386
HP:0012503	Abnormality of the pituitary gland	10735	STAG2	ORPHA:93925
HP:0012503	Abnormality of the pituitary gland	8243	SMC1A	ORPHA:220386
HP:0012503	Abnormality of the pituitary gland	2917	GRM7	OMIM:618922
HP:0012503	Abnormality of the pituitary gland	23007	PLCH1	ORPHA:93925
HP:0012503	Abnormality of the pituitary gland	5566	PRKACA	ORPHA:189439
HP:0012503	Abnormality of the pituitary gland	8622	PDE8B	ORPHA:189439
HP:0012503	Abnormality of the pituitary gland	3458	IFNG	ORPHA:805
HP:0012503	Abnormality of the pituitary gland	7248	TSC1	ORPHA:805
HP:0012503	Abnormality of the pituitary gland	7249	TSC2	ORPHA:805
HP:0012503	Abnormality of the pituitary gland	324	APC	ORPHA:99818
HP:0012503	Abnormality of the pituitary gland	4072	EPCAM	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	4292	MLH1	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	5395	PMS2	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	27030	MLH3	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	22909	FAN1	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	7048	TGFBR2	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	3845	KRAS	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	2956	MSH6	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	5378	PMS1	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	4436	MSH2	ORPHA:144
HP:0012503	Abnormality of the pituitary gland	64218	SEMA4A	ORPHA:440437
HP:0012503	Abnormality of the pituitary gland	657	BMPR1A	ORPHA:440437
HP:0012503	Abnormality of the pituitary gland	6224	RPS20	ORPHA:440437
HP:0012503	Abnormality of the pituitary gland	79798	ARMC5	ORPHA:189427
HP:0012503	Abnormality of the pituitary gland	3418	IDH2	ORPHA:163634
HP:0012503	Abnormality of the pituitary gland	3417	IDH1	ORPHA:163634
HP:0012503	Abnormality of the pituitary gland	83483	PLVAP	OMIM:618183
HP:0012503	Abnormality of the pituitary gland	7840	ALMS1	ORPHA:64
HP:0012503	Abnormality of the pituitary gland	51081	MRPS7	OMIM:617872
HP:0012503	Abnormality of the pituitary gland	405753	DUOXA2	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	6528	SLC5A5	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	7038	TG	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	7173	TPO	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	389434	IYD	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	50506	DUOX2	ORPHA:95716
HP:0012503	Abnormality of the pituitary gland	50506	DUOX2	ORPHA:226316
HP:0012503	Abnormality of the pituitary gland	7068	THRB	OMIM:145650
HP:0012503	Abnormality of the pituitary gland	7068	THRB	OMIM:274300
HP:0012503	Abnormality of the pituitary gland	7355	SLC35A2	ORPHA:356961
HP:0012503	Abnormality of the pituitary gland	23137	SMC5	OMIM:620185
HP:0012503	Abnormality of the pituitary gland	7849	PAX8	OMIM:218700
HP:0012503	Abnormality of the pituitary gland	80067	DCAF17	OMIM:241080
HP:0012503	Abnormality of the pituitary gland	6567	SLC16A2	OMIM:300523
HP:0012503	Abnormality of the pituitary gland	5159	PDGFRB	OMIM:601812
HP:0012503	Abnormality of the pituitary gland	79048	SECISBP2	ORPHA:171706
HP:0012503	Abnormality of the pituitary gland	79048	SECISBP2	OMIM:609698
HP:0012503	Abnormality of the pituitary gland	1482	NKX2-5	OMIM:225250
HP:0012503	Abnormality of the pituitary gland	169792	GLIS3	OMIM:610199
HP:0012503	Abnormality of the pituitary gland	50485	SMARCAL1	OMIM:242900
HP:0012503	Abnormality of the pituitary gland	5696	PSMB8	OMIM:256040
HP:0012503	Abnormality of the pituitary gland	55186	SLC25A36	OMIM:620211
HP:0012503	Abnormality of the pituitary gland	1621	DBH	OMIM:223360
HP:0012503	Abnormality of the pituitary gland	3547	IGSF1	OMIM:300888
HP:0012503	Abnormality of the pituitary gland	2778	GNAS	ORPHA:79443
HP:0012503	Abnormality of the pituitary gland	2778	GNAS	ORPHA:79444
HP:0012503	Abnormality of the pituitary gland	7201	TRHR	ORPHA:99832
HP:0012503	Abnormality of the pituitary gland	2737	GLI3	ORPHA:672
HP:0012503	Abnormality of the pituitary gland	8022	LHX3	OMIM:221750
HP:0012503	Abnormality of the pituitary gland	8022	LHX3	ORPHA:231720
HP:0012503	Abnormality of the pituitary gland	5443	POMC	OMIM:609734
HP:0012503	Abnormality of the pituitary gland	5443	POMC	ORPHA:71526
HP:0012503	Abnormality of the pituitary gland	2488	FSHB	ORPHA:52901
HP:0012503	Abnormality of the pituitary gland	5122	PCSK1	ORPHA:71528
HP:0012503	Abnormality of the pituitary gland	2260	FGFR1	OMIM:615465
HP:0012503	Abnormality of the pituitary gland	55636	CHD7	OMIM:214800
HP:0012503	Abnormality of the pituitary gland	7080	NKX2-1	OMIM:610978
HP:0012503	Abnormality of the pituitary gland	8468	FKBP6	OMIM:620103
HP:0012503	Abnormality of the pituitary gland	7555	CNBP	OMIM:602668
HP:0012503	Abnormality of the pituitary gland	3972	LHB	OMIM:228300
HP:0012503	Abnormality of the pituitary gland	254394	MCM9	OMIM:616185
HP:0012503	Abnormality of the pituitary gland	2074	ERCC6	OMIM:616946
HP:0012503	Abnormality of the pituitary gland	84733	CBX2	OMIM:613080
HP:0012503	Abnormality of the pituitary gland	4439	MSH5	OMIM:617442
HP:0012503	Abnormality of the pituitary gland	158401	SHOC1	OMIM:619949
HP:0012503	Abnormality of the pituitary gland	3953	LEPR	OMIM:614963
HP:0012503	Abnormality of the pituitary gland	3953	LEPR	ORPHA:179494
HP:0012503	Abnormality of the pituitary gland	283987	HID1	OMIM:619983
HP:0012503	Abnormality of the pituitary gland	3952	LEP	ORPHA:66628
HP:0012503	Abnormality of the pituitary gland	9915	ARNT2	OMIM:615926
HP:0012503	Abnormality of the pituitary gland	7252	TSHB	ORPHA:90674
HP:0012503	Abnormality of the pituitary gland	1027	CDKN1B	ORPHA:652
HP:0012503	Abnormality of the pituitary gland	1027	CDKN1B	ORPHA:276152
HP:0012503	Abnormality of the pituitary gland	1026	CDKN1A	ORPHA:652
HP:0012503	Abnormality of the pituitary gland	1030	CDKN2B	ORPHA:652
HP:0012503	Abnormality of the pituitary gland	1031	CDKN2C	ORPHA:652
HP:0012503	Abnormality of the pituitary gland	84196	USP48	ORPHA:96253
HP:0012503	Abnormality of the pituitary gland	7157	TP53	ORPHA:96253
HP:0012503	Abnormality of the pituitary gland	9101	USP8	ORPHA:96253
HP:0012503	Abnormality of the pituitary gland	2908	NR3C1	ORPHA:96253
HP:0012503	Abnormality of the pituitary gland	546	ATRX	ORPHA:96253
HP:0012503	Abnormality of the pituitary gland	2627	GATA6	ORPHA:2255
HP:0012503	Abnormality of the pituitary gland	55599	RNPC3	OMIM:618160
HP:0012503	Abnormality of the pituitary gland	4841	NONO	ORPHA:466791
HP:0012503	Abnormality of the pituitary gland	9791	PTDSS1	OMIM:151050
HP:0012503	Abnormality of the pituitary gland	6638	SNRPN	ORPHA:177904
HP:0012503	Abnormality of the pituitary gland	6638	SNRPN	ORPHA:177901
HP:0012503	Abnormality of the pituitary gland	6638	SNRPN	ORPHA:177907
HP:0012503	Abnormality of the pituitary gland	6638	SNRPN	ORPHA:98754
HP:0012503	Abnormality of the pituitary gland	4692	NDN	ORPHA:177904
HP:0012503	Abnormality of the pituitary gland	4692	NDN	ORPHA:177901
HP:0012503	Abnormality of the pituitary gland	4692	NDN	ORPHA:98754
HP:0012503	Abnormality of the pituitary gland	4948	OCA2	ORPHA:177904
HP:0012503	Abnormality of the pituitary gland	4948	OCA2	ORPHA:177901
HP:0012503	Abnormality of the pituitary gland	4948	OCA2	ORPHA:98754
HP:0012503	Abnormality of the pituitary gland	79989	IFT56	OMIM:619534
HP:0012503	Abnormality of the pituitary gland	23312	DMXL2	ORPHA:453533
HP:0012503	Abnormality of the pituitary gland	23312	DMXL2	OMIM:616113
HP:0012503	Abnormality of the pituitary gland	2688	GH1	OMIM:173100
HP:0012503	Abnormality of the pituitary gland	4524	MTHFR	ORPHA:563612
HP:0012503	Abnormality of the pituitary gland	57216	VANGL2	ORPHA:563612
HP:0012503	Abnormality of the pituitary gland	6926	TBX3	OMIM:181450
HP:0012503	Abnormality of the pituitary gland	8567	MADD	OMIM:619004
HP:0012503	Abnormality of the pituitary gland	2692	GHRHR	OMIM:618157
HP:0012503	Abnormality of the pituitary gland	9578	CDC42BPB	OMIM:619841
HP:0012503	Abnormality of the pituitary gland	4990	SIX6	OMIM:206900
HP:0012503	Abnormality of the pituitary gland	6657	SOX2	OMIM:206900
HP:0012503	Abnormality of the pituitary gland	6657	SOX2	ORPHA:3157
HP:0012503	Abnormality of the pituitary gland	9095	TBX19	OMIM:201400
HP:0012503	Abnormality of the pituitary gland	84133	ZNRF3	ORPHA:1501
HP:0012503	Abnormality of the pituitary gland	1029	CDKN2A	ORPHA:1501
HP:0012503	Abnormality of the pituitary gland	3284	HSD3B2	ORPHA:90791
HP:0012503	Abnormality of the pituitary gland	4173	MCM4	OMIM:609981
HP:0012503	Abnormality of the pituitary gland	215	ABCD1	ORPHA:139399
HP:0012503	Abnormality of the pituitary gland	22827	PUF60	ORPHA:508488
HP:0012503	Abnormality of the pituitary gland	2077	ERF	OMIM:600775
HP:0012503	Abnormality of the pituitary gland	9289	ADGRG1	ORPHA:98889
HP:0012503	Abnormality of the pituitary gland	5297	PI4KA	ORPHA:98889
HP:0012503	Abnormality of the pituitary gland	27286	SRPX2	ORPHA:98889
HP:0012503	Abnormality of the pituitary gland	6091	ROBO1	ORPHA:95496
HP:0012503	Abnormality of the pituitary gland	23432	GPR161	ORPHA:95496
HP:0012503	Abnormality of the pituitary gland	1859	DYRK1A	ORPHA:464311
HP:0012503	Abnormality of the pituitary gland	1859	DYRK1A	ORPHA:268261
HP:0012503	Abnormality of the pituitary gland	51726	DNAJB11	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	23193	GANAB	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	5310	PKD1	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	5311	PKD2	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	29880	ALG5	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	9742	IFT140	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	79796	ALG9	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	80114	BICC1	ORPHA:730
HP:0012503	Abnormality of the pituitary gland	2245	FGD1	OMIM:305400
HP:0012503	Abnormality of the pituitary gland	286053	NSMCE2	OMIM:617253
HP:0012503	Abnormality of the pituitary gland	1730	DIAPH2	OMIM:300511
HP:0012503	Abnormality of the pituitary gland	2100	ESR2	OMIM:618187
HP:0012503	Abnormality of the pituitary gland	4438	MSH4	OMIM:619938
HP:0012503	Abnormality of the pituitary gland	1583	CYP11A1	ORPHA:168558
HP:0012503	Abnormality of the pituitary gland	1583	CYP11A1	ORPHA:289548
HP:0012503	Abnormality of the pituitary gland	8192	CLPP	OMIM:614129
HP:0012503	Abnormality of the pituitary gland	84515	MCM8	OMIM:612885
HP:0012503	Abnormality of the pituitary gland	1528	CYB5A	OMIM:250790
HP:0012503	Abnormality of the pituitary gland	1528	CYB5A	ORPHA:90796
HP:0012503	Abnormality of the pituitary gland	658	BMPR1B	OMIM:609441
HP:0012503	Abnormality of the pituitary gland	5447	POR	ORPHA:95699
HP:0012503	Abnormality of the pituitary gland	367	AR	OMIM:300068
HP:0012503	Abnormality of the pituitary gland	367	AR	ORPHA:90797
HP:0012503	Abnormality of the pituitary gland	367	AR	ORPHA:99429
HP:0012503	Abnormality of the pituitary gland	93953	GCNA	OMIM:301077
HP:0012503	Abnormality of the pituitary gland	2661	GDF9	OMIM:618014
HP:0012503	Abnormality of the pituitary gland	317761	C14orf39	OMIM:619203
HP:0012503	Abnormality of the pituitary gland	55012	PPP2R3C	OMIM:618419
HP:0012503	Abnormality of the pituitary gland	344018	FIGLA	OMIM:612310
HP:0012503	Abnormality of the pituitary gland	164045	HFM1	OMIM:615724
HP:0012503	Abnormality of the pituitary gland	84634	KISS1R	OMIM:176400
HP:0012503	Abnormality of the pituitary gland	10734	STAG3	OMIM:615723
HP:0012503	Abnormality of the pituitary gland	64072	CDH23	ORPHA:91347
HP:0012503	Abnormality of the pituitary gland	64072	CDH23	ORPHA:2965
HP:0012503	Abnormality of the pituitary gland	4221	MEN1	ORPHA:2965
HP:0012503	Abnormality of the pituitary gland	9049	AIP	ORPHA:2965
HP:0012503	Abnormality of the pituitary gland	8139	GAN	ORPHA:643
HP:0012503	Abnormality of the pituitary gland	4791	NFKB2	ORPHA:293978
HP:0012503	Abnormality of the pituitary gland	8314	BAP1	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	4771	NF2	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	5155	PDGFB	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	84231	TRAF7	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	6608	SMO	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	207	AKT1	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	5290	PIK3CA	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	7015	TERT	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	51684	SUFU	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0012503	Abnormality of the pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0012503	Abnormality of the pituitary gland	673	BRAF	ORPHA:54595
HP:0012503	Abnormality of the pituitary gland	22796	COG2	ORPHA:435934
HP:0012503	Abnormality of the pituitary gland	22796	COG2	OMIM:617395
HP:0012503	Abnormality of the pituitary gland	9851	KIAA0753	OMIM:619476
HP:0012503	Abnormality of the pituitary gland	9851	KIAA0753	OMIM:619479
HP:0012503	Abnormality of the pituitary gland	30813	VSX1	OMIM:614195
HP:0012503	Abnormality of the pituitary gland	9394	HS6ST1	OMIM:614880
HP:0012503	Abnormality of the pituitary gland	9968	MED12	ORPHA:93932
HP:0012503	Abnormality of the pituitary gland	6492	SIM1	ORPHA:398079
HP:0012503	Abnormality of the pituitary gland	55131	RBM28	OMIM:612079
HP:0012503	Abnormality of the pituitary gland	54551	MAGEL2	ORPHA:398069
HP:0012503	Abnormality of the pituitary gland	2783	GNB2	OMIM:619503
HP:0012503	Abnormality of the pituitary gland	23031	MAST3	OMIM:620115
HP:0012503	Abnormality of the pituitary gland	2253	FGF8	OMIM:612702
HP:0012503	Abnormality of the pituitary gland	2693	GHSR	OMIM:615925
HP:0012503	Abnormality of the pituitary gland	213	ALB	OMIM:615999
HP:0012503	Abnormality of the pituitary gland	7234	TRU-TCA1-1	OMIM:620198
HP:0012503	Abnormality of the pituitary gland	7253	TSHR	OMIM:609152
HP:0012503	Abnormality of the pituitary gland	7253	TSHR	OMIM:603373
HP:0012503	Abnormality of the pituitary gland	1363	CPE	OMIM:619326
HP:0012503	Abnormality of the pituitary gland	100134444	KCNJ18	OMIM:613239
HP:0012503	Abnormality of the pituitary gland	8471	IRS4	OMIM:301035
HP:0012503	Abnormality of the pituitary gland	6907	TBL1X	OMIM:301033
HP:0012503	Abnormality of the pituitary gland	5573	PRKAR1A	OMIM:101800
HP:0012503	Abnormality of the pituitary gland	3043	HBB	ORPHA:231214
HP:0012503	Abnormality of the pituitary gland	3043	HBB	ORPHA:231226
HP:0012503	Abnormality of the pituitary gland	2193	FARSA	OMIM:619013
HP:0012503	Abnormality of the pituitary gland	5626	PROP1	ORPHA:226307
HP:0012503	Abnormality of the pituitary gland	5626	PROP1	ORPHA:95494
HP:0012503	Abnormality of the pituitary gland	5626	PROP1	ORPHA:90695
HP:0012503	Abnormality of the pituitary gland	89884	LHX4	ORPHA:226307
HP:0012503	Abnormality of the pituitary gland	89884	LHX4	ORPHA:95494
HP:0012503	Abnormality of the pituitary gland	5449	POU1F1	ORPHA:226307
HP:0012503	Abnormality of the pituitary gland	5449	POU1F1	OMIM:613038
HP:0012503	Abnormality of the pituitary gland	5449	POU1F1	ORPHA:95494
HP:0012503	Abnormality of the pituitary gland	116519	APOA5	OMIM:145750
HP:0012503	Abnormality of the pituitary gland	57688	ZSWIM6	ORPHA:1827
HP:0012503	Abnormality of the pituitary gland	57688	ZSWIM6	OMIM:603671
HP:0012503	Abnormality of the pituitary gland	80324	PUS1	OMIM:600462
HP:0012503	Abnormality of the pituitary gland	3170	FOXA2	ORPHA:95494
HP:0012503	Abnormality of the pituitary gland	5015	OTX2	ORPHA:95494
HP:0012503	Abnormality of the pituitary gland	257	ALX3	ORPHA:391474
HP:0012503	Abnormality of the pituitary gland	6658	SOX3	ORPHA:90695
HP:0012503	Abnormality of the pituitary gland	134218	DNAJC21	ORPHA:811
HP:0012503	Abnormality of the pituitary gland	79631	EFL1	ORPHA:811
HP:0012503	Abnormality of the pituitary gland	51119	SBDS	ORPHA:811
HP:0012503	Abnormality of the pituitary gland	6729	SRP54	ORPHA:811
HP:0012503	Abnormality of the pituitary gland	54820	NDE1	ORPHA:2177
HP:0012504	Abnormal size of pituitary gland	4791	NFKB2	ORPHA:293978
HP:0012504	Abnormal size of pituitary gland	64072	CDH23	ORPHA:91347
HP:0012504	Abnormal size of pituitary gland	8314	BAP1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	4771	NF2	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	5155	PDGFB	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	84231	TRAF7	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6608	SMO	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	207	AKT1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	5290	PIK3CA	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	7015	TERT	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	51684	SUFU	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0012504	Abnormal size of pituitary gland	673	BRAF	ORPHA:54595
HP:0012504	Abnormal size of pituitary gland	22796	COG2	ORPHA:435934
HP:0012504	Abnormal size of pituitary gland	22796	COG2	OMIM:617395
HP:0012504	Abnormal size of pituitary gland	9851	KIAA0753	OMIM:619476
HP:0012504	Abnormal size of pituitary gland	9851	KIAA0753	OMIM:619479
HP:0012504	Abnormal size of pituitary gland	30813	VSX1	OMIM:614195
HP:0012504	Abnormal size of pituitary gland	9394	HS6ST1	OMIM:614880
HP:0012504	Abnormal size of pituitary gland	9968	MED12	ORPHA:93932
HP:0012504	Abnormal size of pituitary gland	6492	SIM1	ORPHA:398079
HP:0012504	Abnormal size of pituitary gland	55131	RBM28	OMIM:612079
HP:0012504	Abnormal size of pituitary gland	54551	MAGEL2	ORPHA:398069
HP:0012504	Abnormal size of pituitary gland	2783	GNB2	OMIM:619503
HP:0012504	Abnormal size of pituitary gland	23031	MAST3	OMIM:620115
HP:0012504	Abnormal size of pituitary gland	2253	FGF8	OMIM:612702
HP:0012504	Abnormal size of pituitary gland	2693	GHSR	OMIM:615925
HP:0012504	Abnormal size of pituitary gland	54820	NDE1	ORPHA:2177
HP:0012505	Enlarged pituitary gland	64072	CDH23	ORPHA:91347
HP:0012505	Enlarged pituitary gland	8314	BAP1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	4771	NF2	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	5155	PDGFB	ORPHA:2495
HP:0012505	Enlarged pituitary gland	84231	TRAF7	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6608	SMO	ORPHA:2495
HP:0012505	Enlarged pituitary gland	207	AKT1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	5290	PIK3CA	ORPHA:2495
HP:0012505	Enlarged pituitary gland	7015	TERT	ORPHA:2495
HP:0012505	Enlarged pituitary gland	51684	SUFU	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0012505	Enlarged pituitary gland	673	BRAF	ORPHA:54595
HP:0012506	Small pituitary gland	22796	COG2	ORPHA:435934
HP:0012506	Small pituitary gland	22796	COG2	OMIM:617395
HP:0012506	Small pituitary gland	9851	KIAA0753	OMIM:619476
HP:0012506	Small pituitary gland	9851	KIAA0753	OMIM:619479
HP:0012506	Small pituitary gland	30813	VSX1	OMIM:614195
HP:0012506	Small pituitary gland	9394	HS6ST1	OMIM:614880
HP:0012506	Small pituitary gland	9968	MED12	ORPHA:93932
HP:0012506	Small pituitary gland	6492	SIM1	ORPHA:398079
HP:0012506	Small pituitary gland	55131	RBM28	OMIM:612079
HP:0012506	Small pituitary gland	54551	MAGEL2	ORPHA:398069
HP:0012506	Small pituitary gland	2783	GNB2	OMIM:619503
HP:0012506	Small pituitary gland	23031	MAST3	OMIM:620115
HP:0012506	Small pituitary gland	2253	FGF8	OMIM:612702
HP:0012506	Small pituitary gland	2693	GHSR	OMIM:615925
HP:0012506	Small pituitary gland	54820	NDE1	ORPHA:2177
HP:0012507	Weakness of orbicularis oculi muscle	4556	MT-TE	ORPHA:2596
HP:0012507	Weakness of orbicularis oculi muscle	4625	MYH7	ORPHA:59135
HP:0012508	Metamorphopsia	2202	EFEMP1	ORPHA:75376
HP:0012508	Metamorphopsia	3075	CFH	ORPHA:75376
HP:0012508	Metamorphopsia	3426	CFI	ORPHA:75376
HP:0012508	Metamorphopsia	5961	PRPH2	OMIM:608161
HP:0012508	Metamorphopsia	5961	PRPH2	OMIM:169150
HP:0012508	Metamorphopsia	7439	BEST1	ORPHA:1243
HP:0012508	Metamorphopsia	5167	ENPP1	ORPHA:758
HP:0012508	Metamorphopsia	368	ABCC6	ORPHA:758
HP:0012508	Metamorphopsia	1406	CRX	OMIM:120970
HP:0012508	Metamorphopsia	8314	BAP1	ORPHA:39044
HP:0012508	Metamorphopsia	57105	CYSLTR2	ORPHA:39044
HP:0012508	Metamorphopsia	2776	GNAQ	ORPHA:39044
HP:0012508	Metamorphopsia	2767	GNA11	ORPHA:39044
HP:0012508	Metamorphopsia	23451	SF3B1	ORPHA:39044
HP:0012508	Metamorphopsia	773	CACNA1A	ORPHA:569
HP:0012508	Metamorphopsia	112476	PRRT2	ORPHA:569
HP:0012508	Metamorphopsia	6323	SCN1A	ORPHA:569
HP:0012508	Metamorphopsia	477	ATP1A2	ORPHA:569
HP:0012509	Reduced thyroxin-binding globulin	5373	PMM2	ORPHA:79318
HP:0032943	Abnormal urine pH	5095	PCCA	ORPHA:35
HP:0032943	Abnormal urine pH	5096	PCCB	ORPHA:35
HP:0032943	Abnormal urine pH	283209	PGM2L1	OMIM:620191
HP:0032943	Abnormal urine pH	56922	MCCC1	ORPHA:6
HP:0032943	Abnormal urine pH	64087	MCCC2	ORPHA:6
HP:0032943	Abnormal urine pH	64087	MCCC2	OMIM:210210
HP:0032943	Abnormal urine pH	5442	POLRMT	OMIM:619743
HP:0032943	Abnormal urine pH	291	SLC25A4	OMIM:617184
HP:0032943	Abnormal urine pH	51660	MPC1	OMIM:614741
HP:0032943	Abnormal urine pH	80308	FLAD1	OMIM:255100
HP:0032943	Abnormal urine pH	133686	NADK2	ORPHA:431361
HP:0032943	Abnormal urine pH	3141	HLCS	OMIM:253270
HP:0032943	Abnormal urine pH	3141	HLCS	ORPHA:79242
HP:0032943	Abnormal urine pH	686	BTD	OMIM:253260
HP:0032943	Abnormal urine pH	686	BTD	ORPHA:79241
HP:0032943	Abnormal urine pH	60386	SLC25A19	ORPHA:99742
HP:0032943	Abnormal urine pH	79581	SLC52A2	OMIM:614707
HP:0032943	Abnormal urine pH	2628	GATM	OMIM:612718
HP:0032943	Abnormal urine pH	79783	SUGCT	ORPHA:35706
HP:0032943	Abnormal urine pH	79783	SUGCT	OMIM:231690
HP:0032943	Abnormal urine pH	2639	GCDH	ORPHA:25
HP:0032943	Abnormal urine pH	2639	GCDH	OMIM:231670
HP:0032943	Abnormal urine pH	728294	D2HGDH	OMIM:600721
HP:0032943	Abnormal urine pH	3155	HMGCL	OMIM:246450
HP:0032943	Abnormal urine pH	2108	ETFA	OMIM:231680
HP:0032943	Abnormal urine pH	2109	ETFB	OMIM:231680
HP:0032943	Abnormal urine pH	2110	ETFDH	OMIM:231680
HP:0032943	Abnormal urine pH	10861	SLC26A1	OMIM:167030
HP:0032943	Abnormal urine pH	189	AGXT	OMIM:259900
HP:0032943	Abnormal urine pH	189	AGXT	ORPHA:93598
HP:0032943	Abnormal urine pH	9380	GRHPR	OMIM:260000
HP:0032943	Abnormal urine pH	9380	GRHPR	ORPHA:93599
HP:0032943	Abnormal urine pH	5189	PEX1	OMIM:601539
HP:0032943	Abnormal urine pH	112817	HOGA1	OMIM:613616
HP:0032943	Abnormal urine pH	112817	HOGA1	ORPHA:93600
HP:0032943	Abnormal urine pH	6898	TAT	OMIM:276600
HP:0032943	Abnormal urine pH	7019	TFAM	OMIM:617156
HP:0032943	Abnormal urine pH	37	ACADVL	OMIM:201475
HP:0032943	Abnormal urine pH	3033	HADH	OMIM:231530
HP:0032943	Abnormal urine pH	3033	HADH	ORPHA:71212
HP:0032943	Abnormal urine pH	1374	CPT1A	OMIM:255120
HP:0032943	Abnormal urine pH	55065	SLC52A1	OMIM:615026
HP:0032943	Abnormal urine pH	788	SLC25A20	OMIM:212138
HP:0032943	Abnormal urine pH	788	SLC25A20	ORPHA:159
HP:0032943	Abnormal urine pH	28976	ACAD9	OMIM:611126
HP:0032943	Abnormal urine pH	28976	ACAD9	ORPHA:99901
HP:0032943	Abnormal urine pH	5195	PEX14	OMIM:614887
HP:0032943	Abnormal urine pH	27034	ACAD8	ORPHA:79159
HP:0032943	Abnormal urine pH	6584	SLC22A5	OMIM:212140
HP:0032943	Abnormal urine pH	23474	ETHE1	ORPHA:51188
HP:0032943	Abnormal urine pH	23474	ETHE1	OMIM:602473
HP:0032943	Abnormal urine pH	3329	HSPD1	OMIM:612233
HP:0032943	Abnormal urine pH	8802	SUCLG1	OMIM:245400
HP:0032943	Abnormal urine pH	100303755	PET117	OMIM:619063
HP:0032943	Abnormal urine pH	55863	TMEM126B	OMIM:618250
HP:0032943	Abnormal urine pH	4535	MT-ND1	ORPHA:255210
HP:0032943	Abnormal urine pH	4536	MT-ND2	ORPHA:255210
HP:0032943	Abnormal urine pH	4537	MT-ND3	ORPHA:255210
HP:0032943	Abnormal urine pH	4538	MT-ND4	ORPHA:255210
HP:0032943	Abnormal urine pH	4567	MT-TL1	ORPHA:255210
HP:0032943	Abnormal urine pH	4578	MT-TW	ORPHA:255210
HP:0032943	Abnormal urine pH	4577	MT-TV	ORPHA:255210
HP:0032943	Abnormal urine pH	4508	MT-ATP6	ORPHA:255210
HP:0032943	Abnormal urine pH	4540	MT-ND5	ORPHA:255210
HP:0032943	Abnormal urine pH	4541	MT-ND6	ORPHA:255210
HP:0032943	Abnormal urine pH	4566	MT-TK	ORPHA:255210
HP:0032943	Abnormal urine pH	197257	LDHD	OMIM:245450
HP:0032943	Abnormal urine pH	4704	NDUFA9	OMIM:618247
HP:0032943	Abnormal urine pH	57128	LYRM4	OMIM:615595
HP:0032943	Abnormal urine pH	51601	LIPT1	OMIM:616299
HP:0032943	Abnormal urine pH	9054	NFS1	OMIM:619386
HP:0032943	Abnormal urine pH	6392	SDHD	OMIM:619167
HP:0032943	Abnormal urine pH	89874	SLC25A21	OMIM:618811
HP:0032943	Abnormal urine pH	617	BCS1L	OMIM:124000
HP:0032943	Abnormal urine pH	54704	PDP1	ORPHA:79246
HP:0032943	Abnormal urine pH	91647	ATPAF2	OMIM:604273
HP:0032943	Abnormal urine pH	4724	NDUFS4	OMIM:252010
HP:0032943	Abnormal urine pH	51241	COX16	OMIM:619355
HP:0032943	Abnormal urine pH	55687	TRMU	OMIM:613070
HP:0032943	Abnormal urine pH	1376	CPT2	OMIM:608836
HP:0032943	Abnormal urine pH	34	ACADM	OMIM:201450
HP:0032943	Abnormal urine pH	23095	KIF1B	OMIM:256700
HP:0032943	Abnormal urine pH	6571	SLC18A2	OMIM:618049
HP:0032943	Abnormal urine pH	5979	RET	OMIM:171400
HP:0032943	Abnormal urine pH	5428	POLG	OMIM:203700
HP:0032943	Abnormal urine pH	51116	MRPS2	OMIM:617950
HP:0032943	Abnormal urine pH	197322	ACSF3	OMIM:614265
HP:0032943	Abnormal urine pH	197322	ACSF3	ORPHA:289504
HP:0032943	Abnormal urine pH	119559	SFXN4	OMIM:615578
HP:0032943	Abnormal urine pH	25974	MMACHC	ORPHA:79282
HP:0032943	Abnormal urine pH	25974	MMACHC	OMIM:277400
HP:0032943	Abnormal urine pH	3054	HCFC1	OMIM:309541
HP:0032943	Abnormal urine pH	6948	TCN2	OMIM:275350
HP:0032943	Abnormal urine pH	6948	TCN2	ORPHA:859
HP:0032943	Abnormal urine pH	55788	LMBRD1	ORPHA:79284
HP:0032943	Abnormal urine pH	55788	LMBRD1	OMIM:277380
HP:0032943	Abnormal urine pH	27249	MMADHC	OMIM:277410
HP:0032943	Abnormal urine pH	4594	MMUT	OMIM:251000
HP:0032943	Abnormal urine pH	84693	MCEE	OMIM:251120
HP:0032943	Abnormal urine pH	4552	MTRR	OMIM:236270
HP:0032943	Abnormal urine pH	8803	SUCLA2	OMIM:612073
HP:0032943	Abnormal urine pH	8803	SUCLA2	ORPHA:1933
HP:0032943	Abnormal urine pH	51293	CD320	OMIM:613646
HP:0032943	Abnormal urine pH	5826	ABCD4	OMIM:614857
HP:0032943	Abnormal urine pH	4548	MTR	OMIM:250940
HP:0032943	Abnormal urine pH	326625	MMAB	OMIM:251110
HP:0032943	Abnormal urine pH	5052	PRDX1	OMIM:277400
HP:0032943	Abnormal urine pH	5498	PPOX	OMIM:176200
HP:0032943	Abnormal urine pH	5498	PPOX	ORPHA:79473
HP:0032943	Abnormal urine pH	3077	HFE	OMIM:176200
HP:0032943	Abnormal urine pH	1371	CPOX	ORPHA:79273
HP:0032943	Abnormal urine pH	1371	CPOX	OMIM:121300
HP:0032943	Abnormal urine pH	1371	CPOX	OMIM:618892
HP:0032943	Abnormal urine pH	210	ALAD	ORPHA:100924
HP:0032943	Abnormal urine pH	3145	HMBS	ORPHA:79276
HP:0032943	Abnormal urine pH	7390	UROS	ORPHA:79277
HP:0032943	Abnormal urine pH	2623	GATA1	ORPHA:79277
HP:0032943	Abnormal urine pH	131669	UROC1	OMIM:276880
HP:0032943	Abnormal urine pH	131669	UROC1	ORPHA:210128
HP:0032943	Abnormal urine pH	3418	IDH2	OMIM:613657
HP:0032943	Abnormal urine pH	3417	IDH1	ORPHA:99646
HP:0032943	Abnormal urine pH	54914	FOCAD	OMIM:619991
HP:0032943	Abnormal urine pH	4716	NDUFB10	OMIM:619003
HP:0032943	Abnormal urine pH	7915	ALDH5A1	OMIM:271980
HP:0032943	Abnormal urine pH	4598	MVK	OMIM:260920
HP:0032943	Abnormal urine pH	4598	MVK	OMIM:610377
HP:0032943	Abnormal urine pH	2271	FH	OMIM:606812
HP:0032943	Abnormal urine pH	6341	SCO1	OMIM:619048
HP:0032943	Abnormal urine pH	6576	SLC25A1	OMIM:615182
HP:0032943	Abnormal urine pH	64849	SLC13A3	OMIM:618384
HP:0032943	Abnormal urine pH	763	CA5A	OMIM:615751
HP:0032943	Abnormal urine pH	23417	MLYCD	OMIM:248360
HP:0032943	Abnormal urine pH	36	ACADSB	OMIM:610006
HP:0032943	Abnormal urine pH	3081	HGD	OMIM:203500
HP:0032943	Abnormal urine pH	3242	HPD	OMIM:140350
HP:0032943	Abnormal urine pH	5053	PAH	OMIM:261600
HP:0032943	Abnormal urine pH	55526	DHTKD1	OMIM:204750
HP:0032943	Abnormal urine pH	166785	MMAA	OMIM:251100
HP:0032943	Abnormal urine pH	10841	FTCD	OMIM:229100
HP:0032943	Abnormal urine pH	79944	L2HGDH	OMIM:236792
HP:0032943	Abnormal urine pH	4329	ALDH6A1	OMIM:614105
HP:0032943	Abnormal urine pH	5019	OXCT1	OMIM:245050
HP:0032943	Abnormal urine pH	35	ACADS	ORPHA:26792
HP:0032943	Abnormal urine pH	27247	NFU1	OMIM:605711
HP:0032943	Abnormal urine pH	3954	LETM1	OMIM:620089
HP:0032945	Renal interstitial inflammation	23322	RPGRIP1L	OMIM:619113
HP:0032948	Renal interstitial fibrosis	7289	TULP3	OMIM:619902
HP:0032948	Renal interstitial fibrosis	57728	WDR19	OMIM:614377
HP:0032948	Renal interstitial fibrosis	51473	DCDC2	OMIM:616217
HP:0032948	Renal interstitial fibrosis	23322	RPGRIP1L	OMIM:619113
HP:0032948	Renal interstitial fibrosis	29880	ALG5	OMIM:620056
HP:0032948	Renal interstitial fibrosis	22909	FAN1	OMIM:614817
HP:0012510	Extra-axial cerebrospinal fluid accumulation	23299	BICD2	OMIM:618291
HP:0012510	Extra-axial cerebrospinal fluid accumulation	2898	GRIK2	OMIM:619580
HP:0012510	Extra-axial cerebrospinal fluid accumulation	129285	PPP1R21	OMIM:619383
HP:0012510	Extra-axial cerebrospinal fluid accumulation	84823	LMNB2	OMIM:619180
HP:0012510	Extra-axial cerebrospinal fluid accumulation	4001	LMNB1	OMIM:619179
HP:0012510	Extra-axial cerebrospinal fluid accumulation	10617	STAMBP	OMIM:614261
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8567	MADD	OMIM:619004
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8567	MADD	OMIM:619005
HP:0012510	Extra-axial cerebrospinal fluid accumulation	23404	EXOSC2	OMIM:617763
HP:0012510	Extra-axial cerebrospinal fluid accumulation	116461	TSEN15	OMIM:617026
HP:0012510	Extra-axial cerebrospinal fluid accumulation	9276	COPB2	OMIM:617800
HP:0012510	Extra-axial cerebrospinal fluid accumulation	200424	TET3	OMIM:618798
HP:0012510	Extra-axial cerebrospinal fluid accumulation	93627	TBCK	OMIM:616900
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8021	NUP214	OMIM:618426
HP:0012510	Extra-axial cerebrospinal fluid accumulation	51112	TRAPPC12	OMIM:617669
HP:0012511	Temporal optic disc pallor	4099	MAG	ORPHA:459056
HP:0012511	Temporal optic disc pallor	10059	DNM1L	ORPHA:98673
HP:0012511	Temporal optic disc pallor	4976	OPA1	ORPHA:98673
HP:0012511	Temporal optic disc pallor	4976	OPA1	ORPHA:1215
HP:0012511	Temporal optic disc pallor	2202	EFEMP1	ORPHA:98977
HP:0012511	Temporal optic disc pallor	1545	CYP1B1	ORPHA:98977
HP:0012511	Temporal optic disc pallor	4653	MYOC	ORPHA:98977
HP:0012512	Diffuse optic disc pallor	1798	DPAGT1	ORPHA:86309
HP:0012512	Diffuse optic disc pallor	80781	COL18A1	OMIM:267750
HP:0012512	Diffuse optic disc pallor	49855	SCAPER	OMIM:618195
HP:0012512	Diffuse optic disc pallor	126792	B3GALT6	ORPHA:536467
HP:0012512	Diffuse optic disc pallor	114902	C1QTNF5	ORPHA:67042
HP:0012512	Diffuse optic disc pallor	7275	TUB	OMIM:616188
HP:0012512	Diffuse optic disc pallor	55624	POMGNT1	OMIM:617123
HP:0012512	Diffuse optic disc pallor	79797	ZNF408	OMIM:616469
HP:0012512	Diffuse optic disc pallor	138050	HGSNAT	OMIM:616544
HP:0012512	Diffuse optic disc pallor	4327	MMP19	OMIM:611543
HP:0012512	Diffuse optic disc pallor	10383	TUBB4B	OMIM:617879
HP:0012512	Diffuse optic disc pallor	1261	CNGA3	OMIM:216900
HP:0012512	Diffuse optic disc pallor	7287	TULP1	OMIM:613843
HP:0012512	Diffuse optic disc pallor	1282	COL4A1	OMIM:175780
HP:0012512	Diffuse optic disc pallor	55975	KLHL7	OMIM:612943
HP:0012513	Upper limb pain	9927	MFN2	ORPHA:99947
HP:0012513	Upper limb pain	3852	KRT5	ORPHA:79400
HP:0012513	Upper limb pain	3861	KRT14	ORPHA:79400
HP:0012513	Upper limb pain	2313	FLI1	ORPHA:370348
HP:0012513	Upper limb pain	9935	MAFB	OMIM:166300
HP:0012513	Upper limb pain	567	B2M	ORPHA:314652
HP:0012513	Upper limb pain	1311	COMP	OMIM:619161
HP:0012513	Upper limb pain	3425	IDUA	OMIM:607015
HP:0012514	Lower limb pain	5654	HTRA1	ORPHA:199354
HP:0012514	Lower limb pain	8575	PRKRA	ORPHA:210571
HP:0012514	Lower limb pain	8575	PRKRA	OMIM:612067
HP:0012514	Lower limb pain	7040	TGFB1	OMIM:131300
HP:0012514	Lower limb pain	4311	MME	OMIM:617018
HP:0012514	Lower limb pain	4508	MT-ATP6	ORPHA:320360
HP:0012514	Lower limb pain	5921	RASA1	ORPHA:90307
HP:0012514	Lower limb pain	4566	MT-TK	ORPHA:1349
HP:0012514	Lower limb pain	84188	FAR1	ORPHA:447753
HP:0012514	Lower limb pain	5832	ALDH18A1	ORPHA:447753
HP:0012514	Lower limb pain	6687	SPG7	ORPHA:99013
HP:0012514	Lower limb pain	10613	ERLIN1	ORPHA:401785
HP:0012514	Lower limb pain	4669	NAGLU	OMIM:616491
HP:0012514	Lower limb pain	341208	HEPHL1	OMIM:261990
HP:0012514	Lower limb pain	91662	NLRP12	OMIM:611762
HP:0012514	Lower limb pain	3868	KRT16	ORPHA:2309
HP:0012514	Lower limb pain	3872	KRT17	ORPHA:2309
HP:0012514	Lower limb pain	3853	KRT6A	ORPHA:2309
HP:0012514	Lower limb pain	3854	KRT6B	ORPHA:2309
HP:0012514	Lower limb pain	54	ACP5	ORPHA:1855
HP:0012514	Lower limb pain	9927	MFN2	ORPHA:99947
HP:0012514	Lower limb pain	3852	KRT5	ORPHA:79400
HP:0012514	Lower limb pain	3861	KRT14	ORPHA:79400
HP:0012514	Lower limb pain	10804	GJB6	ORPHA:477
HP:0012514	Lower limb pain	2706	GJB2	ORPHA:477
HP:0012514	Lower limb pain	6399	TRAPPC2	ORPHA:93284
HP:0012514	Lower limb pain	6578	SLCO2A1	OMIM:614441
HP:0012514	Lower limb pain	6578	SLCO2A1	OMIM:167100
HP:0012514	Lower limb pain	4010	LMX1B	ORPHA:2614
HP:0012514	Lower limb pain	1280	COL2A1	ORPHA:94068
HP:0012514	Lower limb pain	1280	COL2A1	ORPHA:166011
HP:0012514	Lower limb pain	4796	TONSL	ORPHA:93357
HP:0012514	Lower limb pain	1298	COL9A2	OMIM:600204
HP:0012514	Lower limb pain	1298	COL9A2	ORPHA:166002
HP:0012514	Lower limb pain	26580	BSCL2	ORPHA:100998
HP:0012514	Lower limb pain	1299	COL9A3	OMIM:600969
HP:0012514	Lower limb pain	1299	COL9A3	ORPHA:166002
HP:0012514	Lower limb pain	1297	COL9A1	OMIM:614135
HP:0012514	Lower limb pain	1297	COL9A1	ORPHA:166002
HP:0012514	Lower limb pain	4322	MMP13	OMIM:250400
HP:0012514	Lower limb pain	567	B2M	ORPHA:314652
HP:0012514	Lower limb pain	23592	LEMD3	ORPHA:166119
HP:0012514	Lower limb pain	1311	COMP	ORPHA:93308
HP:0012514	Lower limb pain	1311	COMP	OMIM:132400
HP:0012514	Lower limb pain	9935	MAFB	OMIM:166300
HP:0012514	Lower limb pain	4148	MATN3	ORPHA:93311
HP:0012514	Lower limb pain	3373	HYAL1	OMIM:601492
HP:0012515	Hip flexor weakness	9499	MYOT	ORPHA:266
HP:0012515	Hip flexor weakness	2318	FLNC	ORPHA:63273
HP:0012515	Hip flexor weakness	6329	SCN4A	ORPHA:98913
HP:0012515	Hip flexor weakness	1134	CHRNA1	ORPHA:98913
HP:0012515	Hip flexor weakness	4038	LRP4	ORPHA:98913
HP:0012515	Hip flexor weakness	1305	COL13A1	ORPHA:98913
HP:0012515	Hip flexor weakness	1140	CHRNB1	ORPHA:98913
HP:0012515	Hip flexor weakness	1144	CHRND	ORPHA:98913
HP:0012515	Hip flexor weakness	1145	CHRNE	ORPHA:98913
HP:0012515	Hip flexor weakness	4593	MUSK	ORPHA:98913
HP:0012515	Hip flexor weakness	5913	RAPSN	ORPHA:98913
HP:0012515	Hip flexor weakness	375790	AGRN	ORPHA:98913
HP:0012515	Hip flexor weakness	221264	AK9	ORPHA:98913
HP:0012515	Hip flexor weakness	285489	DOK7	ORPHA:98913
HP:0012515	Hip flexor weakness	10020	GNE	ORPHA:602
HP:0012517	Reduced catalase level	847	CAT	ORPHA:926
HP:0012517	Reduced catalase level	847	CAT	OMIM:614097
HP:0012518	Abnormal circle of Willis morphology	55901	THSD1	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	7049	TGFBR3	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	1281	COL3A1	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	83854	ANGPTL6	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	2022	ENG	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	84667	HES7	OMIM:613686
HP:0032950	Abnormal renal tubular lumen morphology	286204	CRB2	OMIM:219730
HP:0032950	Abnormal renal tubular lumen morphology	7289	TULP3	OMIM:619902
HP:0032950	Abnormal renal tubular lumen morphology	51473	DCDC2	ORPHA:84081
HP:0032950	Abnormal renal tubular lumen morphology	91147	TMEM67	ORPHA:84081
HP:0032950	Abnormal renal tubular lumen morphology	254428	SLC41A1	OMIM:619468
HP:0002300	Mutism	3064	HTT	ORPHA:399
HP:0002300	Mutism	6515	SLC2A3	ORPHA:399
HP:0002300	Mutism	2512	FTL	OMIM:606159
HP:0002300	Mutism	4137	MAPT	OMIM:601104
HP:0002300	Mutism	4137	MAPT	ORPHA:275864
HP:0002300	Mutism	4137	MAPT	ORPHA:100070
HP:0002300	Mutism	56978	PRDM8	OMIM:616640
HP:0002300	Mutism	56978	PRDM8	ORPHA:324290
HP:0002300	Mutism	26040	SETBP1	ORPHA:436151
HP:0002300	Mutism	79813	EHMT1	ORPHA:96147
HP:0002300	Mutism	2521	FUS	ORPHA:275872
HP:0002300	Mutism	8878	SQSTM1	ORPHA:275872
HP:0002300	Mutism	8878	SQSTM1	ORPHA:275864
HP:0002300	Mutism	8878	SQSTM1	OMIM:616437
HP:0002300	Mutism	7415	VCP	ORPHA:275872
HP:0002300	Mutism	7415	VCP	ORPHA:52430
HP:0002300	Mutism	7415	VCP	ORPHA:275864
HP:0002300	Mutism	7415	VCP	ORPHA:100070
HP:0002300	Mutism	23435	TARDBP	ORPHA:275872
HP:0002300	Mutism	29110	TBK1	ORPHA:275872
HP:0002300	Mutism	29110	TBK1	OMIM:616439
HP:0002300	Mutism	400916	CHCHD10	ORPHA:275872
HP:0002300	Mutism	80704	SLC19A3	OMIM:607483
HP:0002300	Mutism	6925	TCF4	ORPHA:2896
HP:0002300	Mutism	478	ATP1A3	OMIM:128235
HP:0002300	Mutism	478	ATP1A3	ORPHA:71517
HP:0002300	Mutism	2896	GRN	OMIM:607485
HP:0002300	Mutism	2896	GRN	ORPHA:275864
HP:0002300	Mutism	2896	GRN	ORPHA:100070
HP:0002300	Mutism	6792	CDKL5	ORPHA:3095
HP:0002300	Mutism	22854	NTNG1	ORPHA:3095
HP:0002300	Mutism	9568	GABBR2	ORPHA:3095
HP:0002300	Mutism	4204	MECP2	ORPHA:3095
HP:0002300	Mutism	8243	SMC1A	ORPHA:3095
HP:0002300	Mutism	6595	SMARCA2	ORPHA:3051
HP:0002300	Mutism	10479	SLC9A6	OMIM:300243
HP:0002300	Mutism	10479	SLC9A6	ORPHA:85278
HP:0002300	Mutism	1436	CSF1R	OMIM:618476
HP:0002300	Mutism	1436	CSF1R	OMIM:221820
HP:0002300	Mutism	150468	CKAP2L	ORPHA:3255
HP:0002300	Mutism	3178	HNRNPA1	ORPHA:52430
HP:0002300	Mutism	3181	HNRNPA2B1	ORPHA:52430
HP:0002300	Mutism	5339	PLEC	ORPHA:257
HP:0002300	Mutism	427	ASAH1	ORPHA:333
HP:0002300	Mutism	25978	CHMP2B	OMIM:600795
HP:0002300	Mutism	25978	CHMP2B	ORPHA:275864
HP:0002300	Mutism	25978	CHMP2B	ORPHA:100070
HP:0002300	Mutism	2733	GLE1	OMIM:611890
HP:0002300	Mutism	5631	PRPS1	ORPHA:1187
HP:0002300	Mutism	2260	FGFR1	ORPHA:2396
HP:0002300	Mutism	3845	KRAS	ORPHA:2396
HP:0002300	Mutism	9719	ADAMTSL2	ORPHA:1901
HP:0002300	Mutism	9509	ADAMTS2	ORPHA:1901
HP:0002300	Mutism	71	ACTG1	ORPHA:2995
HP:0002300	Mutism	60	ACTB	ORPHA:2995
HP:0002300	Mutism	5286	PIK3C2A	ORPHA:557003
HP:0002300	Mutism	54539	NDUFB11	ORPHA:2556
HP:0002300	Mutism	1349	COX7B	ORPHA:2556
HP:0002300	Mutism	3052	HCCS	ORPHA:2556
HP:0002300	Mutism	4700	NDUFA6	OMIM:618253
HP:0002300	Mutism	5663	PSEN1	ORPHA:275864
HP:0002300	Mutism	5663	PSEN1	ORPHA:100070
HP:0002300	Mutism	54664	TMEM106B	ORPHA:275864
HP:0002300	Mutism	54664	TMEM106B	ORPHA:100070
HP:0002300	Mutism	54209	TREM2	ORPHA:275864
HP:0002300	Mutism	54209	TREM2	ORPHA:100070
HP:0002300	Mutism	2903	GRIN2A	ORPHA:98818
HP:0002300	Mutism	139285	AMER1	ORPHA:2780
HP:0002300	Mutism	6908	TBP	OMIM:607136
HP:0002300	Mutism	2902	GRIN1	ORPHA:208447
HP:0002300	Mutism	1278	COL1A2	ORPHA:1899
HP:0002300	Mutism	1277	COL1A1	ORPHA:1899
HP:0002301	Hemiplegia	4854	NOTCH3	ORPHA:136
HP:0002301	Hemiplegia	51816	ADA2	OMIM:182410
HP:0002301	Hemiplegia	51816	ADA2	OMIM:615688
HP:0002301	Hemiplegia	158	ADSL	OMIM:103050
HP:0002301	Hemiplegia	727676	SNORD118	OMIM:614561
HP:0002301	Hemiplegia	1284	COL4A2	OMIM:614483
HP:0002301	Hemiplegia	6331	SCN5A	ORPHA:1344
HP:0002301	Hemiplegia	4878	NPPA	ORPHA:1344
HP:0002301	Hemiplegia	4519	MT-CYB	ORPHA:137675
HP:0002301	Hemiplegia	478	ATP1A3	OMIM:614820
HP:0002301	Hemiplegia	2260	FGFR1	ORPHA:2396
HP:0002301	Hemiplegia	3845	KRAS	ORPHA:2396
HP:0002301	Hemiplegia	1282	COL4A1	OMIM:175780
HP:0002301	Hemiplegia	6775	STAT4	ORPHA:93552
HP:0002301	Hemiplegia	6696	SPP1	ORPHA:93552
HP:0002301	Hemiplegia	3654	IRAK1	ORPHA:93552
HP:0002301	Hemiplegia	1493	CTLA4	ORPHA:900
HP:0002301	Hemiplegia	26191	PTPN22	ORPHA:900
HP:0002301	Hemiplegia	3115	HLA-DPB1	ORPHA:900
HP:0002301	Hemiplegia	5657	PRTN3	ORPHA:900
HP:0002301	Hemiplegia	3113	HLA-DPA1	ORPHA:900
HP:0002301	Hemiplegia	2776	GNAQ	ORPHA:624
HP:0002301	Hemiplegia	773	CACNA1A	ORPHA:569
HP:0002301	Hemiplegia	773	CACNA1A	ORPHA:97
HP:0002301	Hemiplegia	773	CACNA1A	OMIM:141500
HP:0002301	Hemiplegia	112476	PRRT2	ORPHA:569
HP:0002301	Hemiplegia	6323	SCN1A	ORPHA:569
HP:0002301	Hemiplegia	6323	SCN1A	OMIM:609634
HP:0002301	Hemiplegia	477	ATP1A2	ORPHA:569
HP:0002301	Hemiplegia	477	ATP1A2	OMIM:602481
HP:0002301	Hemiplegia	6821	SUOX	OMIM:272300
HP:0002301	Hemiplegia	6507	SLC1A3	ORPHA:209967
HP:0002301	Hemiplegia	6507	SLC1A3	OMIM:612656
HP:0002301	Hemiplegia	5551	PRF1	OMIM:603553
HP:0002301	Hemiplegia	81704	DOCK8	OMIM:243700
HP:0002301	Hemiplegia	2581	GALC	ORPHA:206443
HP:0002301	Hemiplegia	2581	GALC	ORPHA:206448
HP:0002301	Hemiplegia	170302	ARX	ORPHA:3175
HP:0002301	Hemiplegia	80169	CTC1	OMIM:612199
HP:0002301	Hemiplegia	50485	SMARCAL1	ORPHA:1830
HP:0002301	Hemiplegia	57465	TBC1D24	ORPHA:352596
HP:0002301	Hemiplegia	2782	GNB1	OMIM:616973
HP:0002301	Hemiplegia	5053	PAH	ORPHA:79254
HP:0002301	Hemiplegia	27235	COQ2	OMIM:607426
HP:0002304	Akinesia	4927	NUP88	ORPHA:994
HP:0002304	Akinesia	7846	TUBA1A	ORPHA:994
HP:0002304	Akinesia	4654	MYOD1	ORPHA:994
HP:0002304	Akinesia	4593	MUSK	ORPHA:994
HP:0002304	Akinesia	5913	RAPSN	ORPHA:994
HP:0002304	Akinesia	6572	SLC18A3	ORPHA:994
HP:0002304	Akinesia	285489	DOK7	ORPHA:994
HP:0002304	Akinesia	339453	TMEM240	ORPHA:98773
HP:0002304	Akinesia	339453	TMEM240	OMIM:607454
HP:0002304	Akinesia	11152	WDR45	OMIM:300894
HP:0002304	Akinesia	1798	DPAGT1	ORPHA:86309
HP:0002304	Akinesia	4137	MAPT	OMIM:601104
HP:0002304	Akinesia	4137	MAPT	ORPHA:240071
HP:0002304	Akinesia	4137	MAPT	ORPHA:240094
HP:0002304	Akinesia	4703	NEB	OMIM:619334
HP:0002304	Akinesia	1272	CNTN1	OMIM:612540
HP:0002304	Akinesia	55737	VPS35	OMIM:614203
HP:0002304	Akinesia	55737	VPS35	ORPHA:411602
HP:0002304	Akinesia	1861	TOR1A	OMIM:618947
HP:0002304	Akinesia	54832	VPS13C	OMIM:616840
HP:0002304	Akinesia	51079	NDUFA13	OMIM:618249
HP:0002304	Akinesia	8087	FXR1	OMIM:618822
HP:0002304	Akinesia	2629	GBA1	ORPHA:411602
HP:0002304	Akinesia	2629	GBA1	OMIM:608013
HP:0002304	Akinesia	23317	DNAJC13	ORPHA:411602
HP:0002304	Akinesia	1981	EIF4G1	ORPHA:411602
HP:0002304	Akinesia	120892	LRRK2	ORPHA:411602
HP:0002304	Akinesia	26058	GIGYF2	ORPHA:411602
HP:0002304	Akinesia	6622	SNCA	ORPHA:411602
HP:0002304	Akinesia	4929	NR4A2	OMIM:619911
HP:0002304	Akinesia	2259	FGF14	ORPHA:98764
HP:0002304	Akinesia	80025	PANK2	OMIM:234200
HP:0002304	Akinesia	23400	ATP13A2	OMIM:606693
HP:0002304	Akinesia	9829	DNAJC6	ORPHA:391411
HP:0002304	Akinesia	5420	PODXL	ORPHA:391411
HP:0002304	Akinesia	8867	SYNJ1	ORPHA:391411
HP:0002304	Akinesia	3735	KARS1	OMIM:619147
HP:0002304	Akinesia	55640	FLVCR2	OMIM:225790
HP:0002304	Akinesia	1356	CP	ORPHA:48818
HP:0002304	Akinesia	1146	CHRNG	OMIM:253290
HP:0002304	Akinesia	1144	CHRND	OMIM:253290
HP:0002304	Akinesia	1134	CHRNA1	OMIM:253290
HP:0002304	Akinesia	2065	ERBB3	OMIM:607598
HP:0002304	Akinesia	1639	DCTN1	OMIM:168605
HP:0002305	Athetosis	4594	MMUT	ORPHA:289916
HP:0002305	Athetosis	4594	MMUT	ORPHA:79312
HP:0002305	Athetosis	26235	FBXL4	OMIM:615471
HP:0002305	Athetosis	6513	SLC2A1	OMIM:612126
HP:0002305	Athetosis	6513	SLC2A1	OMIM:601042
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:98811
HP:0002305	Athetosis	6513	SLC2A1	OMIM:606777
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:53583
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:71277
HP:0002305	Athetosis	478	ATP1A3	OMIM:614820
HP:0002305	Athetosis	478	ATP1A3	ORPHA:2131
HP:0002305	Athetosis	6323	SCN1A	OMIM:619317
HP:0002305	Athetosis	1119	CHKA	OMIM:620023
HP:0002305	Athetosis	170302	ARX	OMIM:308350
HP:0002305	Athetosis	170302	ARX	ORPHA:1934
HP:0002305	Athetosis	81570	CLPB	ORPHA:445038
HP:0002305	Athetosis	81570	CLPB	OMIM:616271
HP:0002305	Athetosis	57165	GJC2	OMIM:608804
HP:0002305	Athetosis	1822	ATN1	OMIM:125370
HP:0002305	Athetosis	1822	ATN1	ORPHA:101
HP:0002305	Athetosis	65993	MRPS34	OMIM:617664
HP:0002305	Athetosis	80207	OPA3	ORPHA:67047
HP:0002305	Athetosis	125988	MICOS13	ORPHA:67047
HP:0002305	Athetosis	5160	PDHA1	OMIM:312170
HP:0002305	Athetosis	472	ATM	OMIM:208900
HP:0002305	Athetosis	79133	NDUFAF5	OMIM:618238
HP:0002305	Athetosis	5610	EIF2AK2	OMIM:618877
HP:0002305	Athetosis	84520	GON7	OMIM:619603
HP:0002305	Athetosis	1644	DDC	OMIM:608643
HP:0002305	Athetosis	3736	KCNA1	ORPHA:37612
HP:0002305	Athetosis	3736	KCNA1	ORPHA:1934
HP:0002305	Athetosis	8869	ST3GAL5	OMIM:609056
HP:0002305	Athetosis	87178	PNPT1	ORPHA:319514
HP:0002305	Athetosis	87178	PNPT1	OMIM:614932
HP:0002305	Athetosis	4694	NDUFA1	OMIM:301020
HP:0002305	Athetosis	55250	ELP2	OMIM:617270
HP:0002305	Athetosis	4204	MECP2	OMIM:300055
HP:0002305	Athetosis	4704	NDUFA9	OMIM:618247
HP:0002305	Athetosis	116228	COX20	OMIM:619054
HP:0002305	Athetosis	23732	FRRS1L	OMIM:616981
HP:0002305	Athetosis	64207	IRF2BPL	OMIM:618088
HP:0002305	Athetosis	3054	HCFC1	OMIM:309541
HP:0002305	Athetosis	51079	NDUFA13	OMIM:618249
HP:0002305	Athetosis	7920	ABHD16A	OMIM:619735
HP:0002305	Athetosis	114034	TOE1	OMIM:614969
HP:0002305	Athetosis	2074	ERCC6	OMIM:278800
HP:0002305	Athetosis	5428	POLG	ORPHA:726
HP:0002305	Athetosis	7080	NKX2-1	ORPHA:209905
HP:0002305	Athetosis	7080	NKX2-1	OMIM:610978
HP:0002305	Athetosis	4361	MRE11	OMIM:604391
HP:0002305	Athetosis	6821	SUOX	OMIM:272300
HP:0002305	Athetosis	5805	PTS	ORPHA:13
HP:0002305	Athetosis	5805	PTS	OMIM:261640
HP:0002305	Athetosis	2898	GRIK2	OMIM:619580
HP:0002305	Athetosis	10715	CERS1	OMIM:616230
HP:0002305	Athetosis	774	CACNA1B	OMIM:618497
HP:0002305	Athetosis	8802	SUCLG1	ORPHA:17
HP:0002305	Athetosis	54664	TMEM106B	OMIM:617964
HP:0002305	Athetosis	284439	SLC25A42	OMIM:618416
HP:0002305	Athetosis	10382	TUBB4A	OMIM:612438
HP:0002305	Athetosis	112476	PRRT2	ORPHA:98811
HP:0002305	Athetosis	112476	PRRT2	ORPHA:98810
HP:0002305	Athetosis	112476	PRRT2	ORPHA:31709
HP:0002305	Athetosis	6697	SPR	OMIM:612716
HP:0002305	Athetosis	25953	PNKD	ORPHA:98810
HP:0002305	Athetosis	3028	HSD17B10	ORPHA:391428
HP:0002305	Athetosis	3028	HSD17B10	OMIM:300438
HP:0002305	Athetosis	2512	FTL	OMIM:606159
HP:0002305	Athetosis	10367	MICU1	OMIM:615673
HP:0002305	Athetosis	6812	STXBP1	OMIM:612164
HP:0002305	Athetosis	23533	PIK3R5	ORPHA:64753
HP:0002305	Athetosis	23064	SETX	ORPHA:64753
HP:0002305	Athetosis	92609	TIMM50	OMIM:617698
HP:0002305	Athetosis	2643	GCH1	OMIM:233910
HP:0002305	Athetosis	773	CACNA1A	ORPHA:2131
HP:0002305	Athetosis	6507	SLC1A3	ORPHA:2131
HP:0002305	Athetosis	477	ATP1A2	ORPHA:2131
HP:0002305	Athetosis	477	ATP1A2	OMIM:104290
HP:0002305	Athetosis	80036	TRPM3	OMIM:620224
HP:0002305	Athetosis	80067	DCAF17	ORPHA:3464
HP:0002305	Athetosis	80067	DCAF17	OMIM:241080
HP:0002305	Athetosis	80025	PANK2	OMIM:234200
HP:0002305	Athetosis	7507	XPA	OMIM:278700
HP:0002305	Athetosis	111	ADCY5	OMIM:606703
HP:0002305	Athetosis	1737	DLAT	OMIM:245348
HP:0002305	Athetosis	3251	HPRT1	OMIM:300322
HP:0002305	Athetosis	5138	PDE2A	ORPHA:31709
HP:0002305	Athetosis	6334	SCN8A	ORPHA:31709
HP:0002305	Athetosis	60558	GUF1	OMIM:617065
HP:0002305	Athetosis	6857	SYT1	ORPHA:522077
HP:0002305	Athetosis	6857	SYT1	OMIM:618218
HP:0002305	Athetosis	2566	GABRG2	OMIM:618396
HP:0002305	Athetosis	283989	TSEN54	ORPHA:2524
HP:0002305	Athetosis	116461	TSEN15	ORPHA:2524
HP:0002305	Athetosis	79042	TSEN34	ORPHA:2524
HP:0002305	Athetosis	80746	TSEN2	ORPHA:2524
HP:0002305	Athetosis	51091	SEPSECS	ORPHA:2524
HP:0002305	Athetosis	9213	XPR1	OMIM:616413
HP:0002305	Athetosis	54676	GTPBP2	OMIM:617988
HP:0002305	Athetosis	23556	PIGN	OMIM:614080
HP:0002305	Athetosis	4508	MT-ATP6	ORPHA:225154
HP:0002305	Athetosis	23636	NUP62	ORPHA:225154
HP:0002305	Athetosis	23636	NUP62	OMIM:271930
HP:0002305	Athetosis	103	ADAR	ORPHA:225154
HP:0002305	Athetosis	5354	PLP1	OMIM:312080
HP:0002305	Athetosis	7143	TNR	OMIM:619653
HP:0002305	Athetosis	10463	SLC30A9	OMIM:617595
HP:0002305	Athetosis	5455	POU3F3	OMIM:618604
HP:0002305	Athetosis	133686	NADK2	ORPHA:431361
HP:0002305	Athetosis	133686	NADK2	OMIM:616034
HP:0002305	Athetosis	23219	FBXO28	OMIM:619777
HP:0002305	Athetosis	9439	MED23	OMIM:614249
HP:0002305	Athetosis	256472	TMEM151A	OMIM:620245
HP:0002305	Athetosis	57731	SPTBN4	OMIM:617519
HP:0002305	Athetosis	2778	GNAS	ORPHA:79443
HP:0002305	Athetosis	2639	GCDH	OMIM:231670
HP:0002305	Athetosis	6567	SLC16A2	ORPHA:59
HP:0002305	Athetosis	25970	SH2B1	ORPHA:261197
HP:0002305	Athetosis	5860	QDPR	OMIM:261630
HP:0002305	Athetosis	10533	ATG7	OMIM:619422
HP:0002305	Athetosis	3658	IREB2	OMIM:618451
HP:0002305	Athetosis	3329	HSPD1	OMIM:612233
HP:0002305	Athetosis	284111	SLC13A5	OMIM:615905
HP:0002305	Athetosis	8905	AP1S2	OMIM:304340
HP:0002305	Athetosis	6792	CDKL5	ORPHA:1934
HP:0002305	Athetosis	9091	PIGQ	ORPHA:1934
HP:0002305	Athetosis	2775	GNAO1	ORPHA:1934
HP:0002305	Athetosis	81603	TRIM8	ORPHA:1934
HP:0002305	Athetosis	2902	GRIN1	ORPHA:1934
HP:0002305	Athetosis	79751	SLC25A22	ORPHA:1934
HP:0002305	Athetosis	150094	SIK1	ORPHA:1934
HP:0002305	Athetosis	8573	CASK	ORPHA:1934
HP:0002305	Athetosis	23312	DMXL2	ORPHA:1934
HP:0002305	Athetosis	2917	GRM7	ORPHA:1934
HP:0002305	Athetosis	11284	PNKP	ORPHA:1934
HP:0002305	Athetosis	6326	SCN2A	ORPHA:1934
HP:0002305	Athetosis	51227	PIGP	ORPHA:1934
HP:0002305	Athetosis	6324	SCN1B	ORPHA:1934
HP:0002305	Athetosis	4761	NEUROD2	ORPHA:1934
HP:0002305	Athetosis	2068	ERCC2	OMIM:278730
HP:0002305	Athetosis	5091	PC	OMIM:266150
HP:0002305	Athetosis	79876	UBA5	OMIM:617132
HP:0002305	Athetosis	55768	NGLY1	OMIM:615273
HP:0002305	Athetosis	55768	NGLY1	ORPHA:404454
HP:0002305	Athetosis	56896	DPYSL5	OMIM:619435
HP:0002305	Athetosis	776	CACNA1D	OMIM:615474
HP:0002305	Athetosis	776	CACNA1D	ORPHA:369929
HP:0002305	Athetosis	23316	CUX2	OMIM:618141
HP:0002305	Athetosis	51728	POLR3K	OMIM:619310
HP:0002305	Athetosis	27089	UQCRQ	OMIM:615159
HP:0002305	Athetosis	10059	DNM1L	OMIM:614388
HP:0002305	Athetosis	60684	TRAPPC11	OMIM:615356
HP:0002305	Athetosis	2290	FOXG1	OMIM:613454
HP:0002305	Athetosis	5828	PEX2	OMIM:614866
HP:0002305	Athetosis	1528	CYB5A	ORPHA:621
HP:0002305	Athetosis	1727	CYB5R3	ORPHA:621
HP:0002305	Athetosis	6609	SMPD1	OMIM:257200
HP:0002305	Athetosis	2593	GAMT	ORPHA:382
HP:0002305	Athetosis	26503	SLC17A5	OMIM:604369
HP:0002305	Athetosis	6535	SLC6A8	ORPHA:52503
HP:0002305	Athetosis	5155	PDGFB	OMIM:615483
HP:0002305	Athetosis	5155	PDGFB	OMIM:213600
HP:0002305	Athetosis	10730	YME1L1	OMIM:617302
HP:0002305	Athetosis	50	ACO2	OMIM:614559
HP:0002305	Athetosis	5831	PYCR1	OMIM:614438
HP:0002305	Athetosis	55164	SHQ1	OMIM:619922
HP:0002305	Athetosis	5832	ALDH18A1	OMIM:219150
HP:0002305	Athetosis	54820	NDE1	OMIM:605013
HP:0002305	Athetosis	56652	TWNK	OMIM:271245
HP:0002305	Athetosis	55650	PIGV	OMIM:239300
HP:0002305	Athetosis	51324	SPG21	OMIM:248900
HP:0002305	Athetosis	3798	KIF5A	OMIM:617235
HP:0002305	Athetosis	29978	UBQLN2	OMIM:300857
HP:0002305	Athetosis	55572	FOXRED1	OMIM:618241
HP:0002305	Athetosis	10352	WARS2	OMIM:617710
HP:0002305	Athetosis	10352	WARS2	ORPHA:572798
HP:0002305	Athetosis	2058	EPRS1	OMIM:617951
HP:0002305	Athetosis	6575	SLC20A2	OMIM:213600
HP:0002305	Athetosis	5159	PDGFRB	OMIM:213600
HP:0002305	Athetosis	549	AUH	OMIM:250950
HP:0002305	Athetosis	51102	MECR	OMIM:617282
HP:0002305	Athetosis	8803	SUCLA2	OMIM:612073
HP:0002305	Athetosis	6833	ABCC8	OMIM:618857
HP:0002305	Athetosis	8635	RNASET2	OMIM:612951
HP:0002305	Athetosis	113235	SLC46A1	OMIM:229050
HP:0002305	Athetosis	26227	PHGDH	ORPHA:79351
HP:0002305	Athetosis	8241	RBM10	OMIM:311900
HP:0002305	Athetosis	23230	VPS13A	OMIM:200150
HP:0002307	Drooling	2137	EXTL3	ORPHA:508533
HP:0002307	Drooling	84706	GPT2	OMIM:616281
HP:0002307	Drooling	84706	GPT2	ORPHA:477673
HP:0002307	Drooling	55906	ZC4H2	OMIM:301041
HP:0002307	Drooling	55906	ZC4H2	OMIM:314580
HP:0002307	Drooling	23111	SPART	OMIM:275900
HP:0002307	Drooling	23141	ANKLE2	OMIM:616681
HP:0002307	Drooling	23013	SPEN	OMIM:619312
HP:0002307	Drooling	340533	NEXMIF	OMIM:300912
HP:0002307	Drooling	9759	HDAC4	OMIM:619797
HP:0002307	Drooling	51126	NAA20	OMIM:619717
HP:0002307	Drooling	10059	DNM1L	OMIM:614388
HP:0002307	Drooling	2290	FOXG1	OMIM:613454
HP:0002307	Drooling	23314	SATB2	ORPHA:251028
HP:0002307	Drooling	23314	SATB2	ORPHA:576283
HP:0002307	Drooling	92335	STRADA	ORPHA:500533
HP:0002307	Drooling	9839	ZEB2	OMIM:235730
HP:0002307	Drooling	10159	ATP6AP2	ORPHA:93952
HP:0002307	Drooling	10159	ATP6AP2	OMIM:300423
HP:0002307	Drooling	478	ATP1A3	OMIM:128235
HP:0002307	Drooling	478	ATP1A3	OMIM:619606
HP:0002307	Drooling	478	ATP1A3	ORPHA:71517
HP:0002307	Drooling	10479	SLC9A6	OMIM:300243
HP:0002307	Drooling	6567	SLC16A2	OMIM:300523
HP:0002307	Drooling	55209	SETD5	OMIM:615761
HP:0002307	Drooling	9442	MED27	OMIM:619286
HP:0002307	Drooling	283489	CHAMP1	OMIM:616579
HP:0002307	Drooling	3097	HIVEP2	OMIM:616977
HP:0002307	Drooling	5010	CLDN11	OMIM:619328
HP:0002307	Drooling	23431	AP4E1	OMIM:613744
HP:0002307	Drooling	23431	AP4E1	ORPHA:280763
HP:0002307	Drooling	9179	AP4M1	OMIM:612936
HP:0002307	Drooling	9179	AP4M1	ORPHA:280763
HP:0002307	Drooling	2192	FBLN1	ORPHA:404451
HP:0002307	Drooling	84679	SLC9A7	OMIM:301024
HP:0002307	Drooling	6595	SMARCA2	OMIM:619293
HP:0002307	Drooling	6595	SMARCA2	OMIM:601358
HP:0002307	Drooling	7337	UBE3A	ORPHA:98794
HP:0002307	Drooling	7337	UBE3A	OMIM:105830
HP:0002307	Drooling	7337	UBE3A	ORPHA:411511
HP:0002307	Drooling	7337	UBE3A	ORPHA:411515
HP:0002307	Drooling	4948	OCA2	ORPHA:98794
HP:0002307	Drooling	55777	MBD5	OMIM:156200
HP:0002307	Drooling	4784	NFIX	OMIM:602535
HP:0002307	Drooling	4204	MECP2	OMIM:300055
HP:0002307	Drooling	4204	MECP2	OMIM:300260
HP:0002307	Drooling	56992	KIF15	ORPHA:261323
HP:0002307	Drooling	8925	HERC1	ORPHA:457359
HP:0002307	Drooling	84340	GFM2	ORPHA:565624
HP:0002307	Drooling	84340	GFM2	OMIM:618397
HP:0002307	Drooling	10588	MTHFS	OMIM:618367
HP:0002307	Drooling	63035	BCORL1	OMIM:301029
HP:0002307	Drooling	9968	MED12	ORPHA:93932
HP:0002307	Drooling	93986	FOXP2	ORPHA:209908
HP:0002307	Drooling	51319	RSRC1	OMIM:618402
HP:0002307	Drooling	311	ANXA11	OMIM:619733
HP:0002307	Drooling	9378	NRXN1	OMIM:614325
HP:0002307	Drooling	8398	PLA2G6	ORPHA:35069
HP:0002307	Drooling	8604	SLC25A12	OMIM:612949
HP:0002307	Drooling	2898	GRIK2	OMIM:619580
HP:0002307	Drooling	7703	PCGF2	OMIM:618371
HP:0002307	Drooling	6899	TBX1	OMIM:188400
HP:0002307	Drooling	80856	LNPK	OMIM:618090
HP:0002307	Drooling	84823	LMNB2	OMIM:619180
HP:0002307	Drooling	10087	CERT1	OMIM:616351
HP:0002307	Drooling	5631	PRPS1	OMIM:301835
HP:0002307	Drooling	2906	GRIN2D	OMIM:617162
HP:0002307	Drooling	3188	HNRNPH2	OMIM:300986
HP:0002307	Drooling	128989	TANGO2	OMIM:616878
HP:0002307	Drooling	6304	SATB1	OMIM:619229
HP:0002307	Drooling	10522	DEAF1	OMIM:617171
HP:0002307	Drooling	10522	DEAF1	ORPHA:468620
HP:0002307	Drooling	55697	VAC14	OMIM:617054
HP:0002307	Drooling	10717	AP4B1	OMIM:614066
HP:0002307	Drooling	10717	AP4B1	ORPHA:280763
HP:0002307	Drooling	27107	ZBTB11	OMIM:618383
HP:0002307	Drooling	11154	AP4S1	OMIM:614067
HP:0002307	Drooling	11154	AP4S1	ORPHA:280763
HP:0002307	Drooling	10846	PDE10A	ORPHA:494526
HP:0002307	Drooling	10846	PDE10A	OMIM:616921
HP:0002307	Drooling	5063	PAK3	OMIM:300558
HP:0002307	Drooling	6711	SPTBN1	OMIM:619475
HP:0002307	Drooling	3747	KCNC2	OMIM:619913
HP:0002307	Drooling	27286	SRPX2	ORPHA:163721
HP:0002307	Drooling	27286	SRPX2	ORPHA:98889
HP:0002307	Drooling	27286	SRPX2	ORPHA:1945
HP:0002307	Drooling	2903	GRIN2A	ORPHA:163721
HP:0002307	Drooling	2903	GRIN2A	ORPHA:1945
HP:0002307	Drooling	4361	MRE11	ORPHA:251347
HP:0002307	Drooling	9289	ADGRG1	ORPHA:98889
HP:0002307	Drooling	5297	PI4KA	ORPHA:98889
HP:0002307	Drooling	6638	SNRPN	OMIM:105830
HP:0002307	Drooling	6638	SNRPN	ORPHA:411515
HP:0002307	Drooling	6335	SCN9A	ORPHA:33069
HP:0002307	Drooling	6326	SCN2A	ORPHA:33069
HP:0002307	Drooling	2554	GABRA1	ORPHA:33069
HP:0002307	Drooling	6323	SCN1A	ORPHA:33069
HP:0002307	Drooling	6324	SCN1B	ORPHA:33069
HP:0002307	Drooling	57526	PCDH19	ORPHA:33069
HP:0002307	Drooling	2566	GABRG2	ORPHA:33069
HP:0002307	Drooling	2566	GABRG2	ORPHA:1945
HP:0002307	Drooling	11128	POLR3A	ORPHA:447896
HP:0002307	Drooling	11128	POLR3A	OMIM:607694
HP:0002307	Drooling	1737	DLAT	OMIM:245348
HP:0002307	Drooling	55617	TASP1	OMIM:618950
HP:0002307	Drooling	4841	NONO	OMIM:300967
HP:0002307	Drooling	6472	SHMT2	OMIM:619121
HP:0002307	Drooling	23230	VPS13A	OMIM:200150
HP:0002307	Drooling	347733	TUBB2B	OMIM:610031
HP:0002307	Drooling	23261	CAMTA1	OMIM:614756
HP:0002307	Drooling	5376	PMP22	ORPHA:98916
HP:0002307	Drooling	6509	SLC1A4	OMIM:616657
HP:0002307	Drooling	8911	CACNA1I	OMIM:620114
HP:0002307	Drooling	388015	RTL1	ORPHA:96334
HP:0002307	Drooling	8788	DLK1	ORPHA:96334
HP:0002307	Drooling	55384	MEG3	ORPHA:96334
HP:0002307	Drooling	540	ATP7B	OMIM:277900
HP:0002307	Drooling	9568	GABBR2	OMIM:617904
HP:0002307	Drooling	2799	GNS	OMIM:252940
HP:0002307	Drooling	84628	NTNG2	OMIM:618718
HP:0002307	Drooling	55739	NAXD	OMIM:618321
HP:0002307	Drooling	259232	NALCN	OMIM:616266
HP:0002307	Drooling	27086	FOXP1	OMIM:613670
HP:0002307	Drooling	57679	ALS2	OMIM:205100
HP:0002307	Drooling	546	ATRX	OMIM:309580
HP:0002307	Drooling	5455	POU3F3	OMIM:618604
HP:0002307	Drooling	9487	PIGL	OMIM:280000
HP:0002307	Drooling	8831	SYNGAP1	OMIM:612621
HP:0002307	Drooling	23219	FBXO28	OMIM:619777
HP:0002307	Drooling	84842	HPDL	OMIM:619026
HP:0002307	Drooling	1968	EIF2S3	OMIM:300148
HP:0002307	Drooling	170302	ARX	OMIM:300419
HP:0002307	Drooling	79628	SH3TC2	ORPHA:99949
HP:0002307	Drooling	9230	RAB11B	OMIM:617807
HP:0002307	Drooling	57194	ATP10A	ORPHA:411515
HP:0002307	Drooling	55703	POLR3B	OMIM:607694
HP:0002308	Chiari malformation	64840	PORCN	OMIM:305600
HP:0002308	Chiari malformation	2294	FOXF1	OMIM:265380
HP:0002308	Chiari malformation	5251	PHEX	ORPHA:89936
HP:0002308	Chiari malformation	5447	POR	OMIM:201750
HP:0002308	Chiari malformation	5447	POR	ORPHA:95699
HP:0002308	Chiari malformation	6309	SC5D	ORPHA:46059
HP:0002308	Chiari malformation	6309	SC5D	OMIM:607330
HP:0002308	Chiari malformation	3590	IL11RA	OMIM:614188
HP:0002308	Chiari malformation	5290	PIK3CA	ORPHA:60040
HP:0002308	Chiari malformation	4659	PPP1R12A	OMIM:618820
HP:0002308	Chiari malformation	6804	STX1A	ORPHA:904
HP:0002308	Chiari malformation	7461	CLIP2	ORPHA:904
HP:0002308	Chiari malformation	84277	DNAJC30	ORPHA:904
HP:0002308	Chiari malformation	8468	FKBP6	ORPHA:904
HP:0002308	Chiari malformation	5982	RFC2	ORPHA:904
HP:0002308	Chiari malformation	2969	GTF2I	ORPHA:904
HP:0002308	Chiari malformation	3984	LIMK1	ORPHA:904
HP:0002308	Chiari malformation	9569	GTF2IRD1	ORPHA:904
HP:0002308	Chiari malformation	155382	VPS37D	ORPHA:904
HP:0002308	Chiari malformation	155368	METTL27	ORPHA:904
HP:0002308	Chiari malformation	114049	BUD23	ORPHA:904
HP:0002308	Chiari malformation	7458	EIF4H	ORPHA:904
HP:0002308	Chiari malformation	84163	GTF2IRD2	ORPHA:904
HP:0002308	Chiari malformation	9275	BCL7B	ORPHA:904
HP:0002308	Chiari malformation	26608	TBL2	ORPHA:904
HP:0002308	Chiari malformation	653361	NCF1	ORPHA:904
HP:0002308	Chiari malformation	135886	TMEM270	ORPHA:904
HP:0002308	Chiari malformation	9031	BAZ1B	ORPHA:904
HP:0002308	Chiari malformation	22800	RRAS2	OMIM:618624
HP:0002308	Chiari malformation	10992	SF3B2	OMIM:164210
HP:0002308	Chiari malformation	4796	TONSL	ORPHA:93357
HP:0002308	Chiari malformation	4796	TONSL	OMIM:271510
HP:0002308	Chiari malformation	81839	VANGL1	ORPHA:3027
HP:0002308	Chiari malformation	80199	FUZ	ORPHA:3027
HP:0002308	Chiari malformation	5745	PTH1R	OMIM:600002
HP:0002308	Chiari malformation	4125	MAN2B1	ORPHA:309282
HP:0002308	Chiari malformation	79718	TBL1XR1	OMIM:602342
HP:0002308	Chiari malformation	79718	TBL1XR1	ORPHA:487825
HP:0002308	Chiari malformation	51360	MBTPS2	OMIM:308205
HP:0002308	Chiari malformation	29998	BICRA	OMIM:619325
HP:0002308	Chiari malformation	55159	RFWD3	OMIM:617784
HP:0002308	Chiari malformation	55215	FANCI	OMIM:609053
HP:0002308	Chiari malformation	6299	SALL1	ORPHA:857
HP:0002308	Chiari malformation	51339	DACT1	ORPHA:857
HP:0002308	Chiari malformation	6595	SMARCA2	OMIM:619293
HP:0002308	Chiari malformation	23387	SIK3	OMIM:618162
HP:0002308	Chiari malformation	2261	FGFR3	ORPHA:93262
HP:0002308	Chiari malformation	6651	SON	ORPHA:500150
HP:0002308	Chiari malformation	1108	CHD4	OMIM:617159
HP:0002308	Chiari malformation	7048	TGFBR2	OMIM:610168
HP:0002308	Chiari malformation	2316	FLNA	ORPHA:1826
HP:0002308	Chiari malformation	6885	MAP3K7	ORPHA:1826
HP:0002308	Chiari malformation	2776	GNAQ	ORPHA:3205
HP:0002308	Chiari malformation	5727	PTCH1	ORPHA:77301
HP:0002308	Chiari malformation	1513	CTSK	ORPHA:763
HP:0002308	Chiari malformation	9401	RECQL4	OMIM:218600
HP:0002308	Chiari malformation	8091	HMGA2	ORPHA:94063
HP:0002308	Chiari malformation	23592	LEMD3	ORPHA:94063
HP:0002308	Chiari malformation	54903	MKS1	OMIM:249000
HP:0002308	Chiari malformation	2260	FGFR1	OMIM:101600
HP:0002308	Chiari malformation	7046	TGFBR1	OMIM:609192
HP:0002308	Chiari malformation	2200	FBN1	ORPHA:2462
HP:0002308	Chiari malformation	4853	NOTCH2	ORPHA:955
HP:0002308	Chiari malformation	2077	ERF	OMIM:600775
HP:0002308	Chiari malformation	5977	DPF2	OMIM:618027
HP:0002308	Chiari malformation	6608	SMO	OMIM:601707
HP:0002308	Chiari malformation	6608	SMO	OMIM:241800
HP:0002308	Chiari malformation	63895	PIEZO2	OMIM:114300
HP:0002308	Chiari malformation	1788	DNMT3A	OMIM:615879
HP:0002308	Chiari malformation	4774	NFIA	OMIM:613735
HP:0002308	Chiari malformation	4774	NFIA	ORPHA:401986
HP:0002308	Chiari malformation	80036	TRPM3	OMIM:620224
HP:0002308	Chiari malformation	3845	KRAS	OMIM:609942
HP:0002308	Chiari malformation	10283	CWC27	ORPHA:166035
HP:0002308	Chiari malformation	9839	ZEB2	ORPHA:261537
HP:0002308	Chiari malformation	9839	ZEB2	ORPHA:261552
HP:0002308	Chiari malformation	284058	KANSL1	ORPHA:363965
HP:0002308	Chiari malformation	284058	KANSL1	ORPHA:363958
HP:0002308	Chiari malformation	4094	MAF	ORPHA:1272
HP:0002308	Chiari malformation	4094	MAF	OMIM:601088
HP:0002308	Chiari malformation	1436	CSF1R	OMIM:618476
HP:0002308	Chiari malformation	4854	NOTCH3	OMIM:130720
HP:0002308	Chiari malformation	3020	H3-3A	OMIM:619720
HP:0002308	Chiari malformation	8318	CDC45	OMIM:617063
HP:0002308	Chiari malformation	5500	PPP1CB	OMIM:617506
HP:0002308	Chiari malformation	2033	EP300	ORPHA:353284
HP:0002308	Chiari malformation	9772	TMEM94	OMIM:618316
HP:0002308	Chiari malformation	29072	SETD2	OMIM:620157
HP:0002308	Chiari malformation	29072	SETD2	OMIM:620155
HP:0002308	Chiari malformation	23516	SLC39A14	OMIM:144755
HP:0002308	Chiari malformation	51085	MLXIPL	OMIM:194050
HP:0002308	Chiari malformation	2006	ELN	OMIM:194050
HP:0002308	Chiari malformation	11128	POLR3A	ORPHA:3455
HP:0002308	Chiari malformation	6497	SKI	OMIM:182212
HP:0002308	Chiari malformation	4841	NONO	ORPHA:466791
HP:0002308	Chiari malformation	57551	TAOK1	OMIM:619575
HP:0002308	Chiari malformation	10274	STAG1	OMIM:617635
HP:0002308	Chiari malformation	4791	NFKB2	OMIM:615577
HP:0002308	Chiari malformation	22943	DKK1	ORPHA:268882
HP:0002308	Chiari malformation	1387	CREBBP	ORPHA:353277
HP:0002308	Chiari malformation	79947	DHDDS	OMIM:617836
HP:0002308	Chiari malformation	5076	PAX2	OMIM:120330
HP:0002308	Chiari malformation	1717	DHCR7	OMIM:270400
HP:0002308	Chiari malformation	25970	SH2B1	ORPHA:261197
HP:0002308	Chiari malformation	55703	POLR3B	OMIM:619742
HP:0002308	Chiari malformation	5888	RAD51	OMIM:617244
HP:0002308	Chiari malformation	4858	NOVA2	OMIM:618859
HP:0002308	Chiari malformation	161742	SPRED1	ORPHA:137605
HP:0002308	Chiari malformation	3265	HRAS	OMIM:218040
HP:0002308	Chiari malformation	26040	SETBP1	ORPHA:798
HP:0002308	Chiari malformation	2263	FGFR2	OMIM:101200
HP:0002308	Chiari malformation	84667	HES7	OMIM:613686
HP:0012521	Optic nerve aplasia	5080	PAX6	OMIM:165550
HP:0012521	Optic nerve aplasia	5080	PAX6	OMIM:120200
HP:0012521	Optic nerve aplasia	4990	SIX6	OMIM:206900
HP:0012521	Optic nerve aplasia	6657	SOX2	OMIM:206900
HP:0012522	Spider hemangioma	2859	GPR35	ORPHA:171
HP:0012522	Spider hemangioma	10507	SEMA4D	ORPHA:171
HP:0012522	Spider hemangioma	4485	MST1	ORPHA:171
HP:0012522	Spider hemangioma	6925	TCF4	ORPHA:171
HP:0012522	Spider hemangioma	2542	SLC37A4	OMIM:232240
HP:0012523	Oral aversion	38	ACAT1	ORPHA:134
HP:0012523	Oral aversion	6597	SMARCA4	ORPHA:1465
HP:0012523	Oral aversion	6598	SMARCB1	ORPHA:1465
HP:0012523	Oral aversion	6659	SOX4	ORPHA:1465
HP:0012523	Oral aversion	8289	ARID1A	ORPHA:1465
HP:0012523	Oral aversion	5977	DPF2	ORPHA:1465
HP:0012523	Oral aversion	6601	SMARCC2	ORPHA:1465
HP:0012523	Oral aversion	6602	SMARCD1	ORPHA:1465
HP:0012523	Oral aversion	57492	ARID1B	ORPHA:1465
HP:0012523	Oral aversion	196528	ARID2	ORPHA:1465
HP:0012523	Oral aversion	6605	SMARCE1	ORPHA:1465
HP:0012523	Oral aversion	6664	SOX11	ORPHA:1465
HP:0012523	Oral aversion	2887	GRB10	ORPHA:96182
HP:0012523	Oral aversion	55690	PACS1	ORPHA:329224
HP:0012523	Oral aversion	9056	SLC7A7	ORPHA:470
HP:0012523	Oral aversion	4212	MEIS2	OMIM:600987
HP:0012524	Abnormal platelet shape	861	RUNX1	OMIM:601399
HP:0012524	Abnormal platelet shape	22852	ANKRD26	OMIM:188000
HP:0012526	Absence of alpha granules	8328	GFI1B	OMIM:187900
HP:0012527	Abnormal alpha granule content	861	RUNX1	OMIM:601399
HP:0012528	Abnormal number of alpha granules	8328	GFI1B	OMIM:187900
HP:0012528	Abnormal number of alpha granules	23218	NBEAL2	OMIM:139090
HP:0012528	Abnormal number of alpha granules	64376	IKZF5	OMIM:619130
HP:0012528	Abnormal number of alpha granules	2623	GATA1	OMIM:314050
HP:0012529	Abnormal dense granule content	861	RUNX1	OMIM:601399
HP:0012520	Dilation of Virchow-Robin spaces	55252	ASXL2	OMIM:617190
HP:0012520	Dilation of Virchow-Robin spaces	4953	ODC1	OMIM:619075
HP:0012520	Dilation of Virchow-Robin spaces	4953	ODC1	ORPHA:544488
HP:0012520	Dilation of Virchow-Robin spaces	6134	RPL10	OMIM:300998
HP:0012520	Dilation of Virchow-Robin spaces	55768	NGLY1	OMIM:615273
HP:0012520	Dilation of Virchow-Robin spaces	8294	H4C9	OMIM:619951
HP:0012520	Dilation of Virchow-Robin spaces	3020	H3-3A	OMIM:619720
HP:0012520	Dilation of Virchow-Robin spaces	1182	CLCN3	OMIM:619512
HP:0012520	Dilation of Virchow-Robin spaces	1182	CLCN3	OMIM:619517
HP:0012520	Dilation of Virchow-Robin spaces	6477	SIAH1	OMIM:619314
HP:0012520	Dilation of Virchow-Robin spaces	54453	RIN2	OMIM:613075
HP:0012520	Dilation of Virchow-Robin spaces	5728	PTEN	OMIM:605309
HP:0012520	Dilation of Virchow-Robin spaces	85365	ALG2	OMIM:607906
HP:0012520	Dilation of Virchow-Robin spaces	51111	KMT5B	OMIM:617788
HP:0012520	Dilation of Virchow-Robin spaces	1641	DCX	ORPHA:2148
HP:0012520	Dilation of Virchow-Robin spaces	5654	HTRA1	OMIM:616779
HP:0012520	Dilation of Virchow-Robin spaces	5361	PLXNA1	OMIM:619955
HP:0012520	Dilation of Virchow-Robin spaces	5048	PAFAH1B1	OMIM:607432
HP:0012520	Dilation of Virchow-Robin spaces	5048	PAFAH1B1	ORPHA:95232
HP:0012520	Dilation of Virchow-Robin spaces	1282	COL4A1	OMIM:175780
HP:0012520	Dilation of Virchow-Robin spaces	57688	ZSWIM6	OMIM:603671
HP:0002310	Orofacial dyskinesia	87178	PNPT1	ORPHA:319514
HP:0002310	Orofacial dyskinesia	10559	SLC35A1	OMIM:603585
HP:0002310	Orofacial dyskinesia	25978	CHMP2B	OMIM:600795
HP:0002310	Orofacial dyskinesia	8575	PRKRA	ORPHA:210571
HP:0002310	Orofacial dyskinesia	111	ADCY5	ORPHA:324588
HP:0002310	Orofacial dyskinesia	56915	EXOSC5	OMIM:619576
HP:0002310	Orofacial dyskinesia	2775	GNAO1	OMIM:617493
HP:0002310	Orofacial dyskinesia	10367	MICU1	OMIM:615673
HP:0002310	Orofacial dyskinesia	10367	MICU1	ORPHA:401768
HP:0002310	Orofacial dyskinesia	10846	PDE10A	ORPHA:494526
HP:0002310	Orofacial dyskinesia	10846	PDE10A	OMIM:616921
HP:0002310	Orofacial dyskinesia	58494	JAM2	OMIM:618824
HP:0002310	Orofacial dyskinesia	1593	CYP27A1	ORPHA:909
HP:0002310	Orofacial dyskinesia	4361	MRE11	ORPHA:251347
HP:0002310	Orofacial dyskinesia	781	CACNA2D1	OMIM:620149
HP:0002310	Orofacial dyskinesia	27235	COQ2	ORPHA:227510
HP:0002310	Orofacial dyskinesia	27235	COQ2	ORPHA:98933
HP:0002310	Orofacial dyskinesia	57704	GBA2	OMIM:614409
HP:0002310	Orofacial dyskinesia	5354	PLP1	ORPHA:280219
HP:0002310	Orofacial dyskinesia	6571	SLC18A2	ORPHA:352649
HP:0002310	Orofacial dyskinesia	80025	PANK2	OMIM:234200
HP:0002310	Orofacial dyskinesia	80025	PANK2	OMIM:607236
HP:0002310	Orofacial dyskinesia	10128	LRPPRC	ORPHA:70472
HP:0002310	Orofacial dyskinesia	6314	ATXN7	ORPHA:94147
HP:0002310	Orofacial dyskinesia	6314	ATXN7	OMIM:164500
HP:0002310	Orofacial dyskinesia	6531	SLC6A3	ORPHA:238455
HP:0002310	Orofacial dyskinesia	2512	FTL	ORPHA:157846
HP:0002310	Orofacial dyskinesia	23230	VPS13A	OMIM:200150
HP:0002310	Orofacial dyskinesia	3658	IREB2	OMIM:618451
HP:0002310	Orofacial dyskinesia	2259	FGF14	OMIM:193003
HP:0002310	Orofacial dyskinesia	16	AARS1	OMIM:616339
HP:0002310	Orofacial dyskinesia	112476	PRRT2	OMIM:128200
HP:0002312	Clumsiness	1203	CLN5	ORPHA:228360
HP:0002312	Clumsiness	1203	CLN5	OMIM:256731
HP:0002312	Clumsiness	6584	SLC22A5	ORPHA:158
HP:0002312	Clumsiness	5621	PRNP	ORPHA:282166
HP:0002312	Clumsiness	5621	PRNP	ORPHA:157941
HP:0002312	Clumsiness	3064	HTT	ORPHA:399
HP:0002312	Clumsiness	6515	SLC2A3	ORPHA:399
HP:0002312	Clumsiness	5888	RAD51	ORPHA:238722
HP:0002312	Clumsiness	10126	DNAL4	ORPHA:238722
HP:0002312	Clumsiness	9423	NTN1	ORPHA:238722
HP:0002312	Clumsiness	1630	DCC	ORPHA:238722
HP:0002312	Clumsiness	7809	BSND	ORPHA:89938
HP:0002312	Clumsiness	1188	CLCNKB	ORPHA:89938
HP:0002312	Clumsiness	1187	CLCNKA	ORPHA:89938
HP:0002312	Clumsiness	8398	PLA2G6	ORPHA:199351
HP:0002312	Clumsiness	8398	PLA2G6	OMIM:612953
HP:0002312	Clumsiness	410	ARSA	ORPHA:309256
HP:0002312	Clumsiness	410	ARSA	ORPHA:309271
HP:0002312	Clumsiness	410	ARSA	ORPHA:309263
HP:0002312	Clumsiness	5660	PSAP	ORPHA:309256
HP:0002312	Clumsiness	5660	PSAP	ORPHA:309271
HP:0002312	Clumsiness	5660	PSAP	ORPHA:309263
HP:0002312	Clumsiness	10367	MICU1	OMIM:615673
HP:0002312	Clumsiness	57680	CHD8	OMIM:615032
HP:0002312	Clumsiness	23516	SLC39A14	OMIM:617013
HP:0002312	Clumsiness	23345	SYNE1	ORPHA:88644
HP:0002312	Clumsiness	5063	PAK3	OMIM:300558
HP:0002312	Clumsiness	1213	CLTC	OMIM:617854
HP:0002312	Clumsiness	22880	MORC2	OMIM:616688
HP:0002312	Clumsiness	55280	CWF19L1	OMIM:616127
HP:0002312	Clumsiness	55280	CWF19L1	ORPHA:453521
HP:0002312	Clumsiness	540	ATP7B	ORPHA:905
HP:0002312	Clumsiness	4929	NR4A2	OMIM:619911
HP:0002312	Clumsiness	3748	KCNC3	ORPHA:98768
HP:0002312	Clumsiness	4287	ATXN3	ORPHA:276244
HP:0002312	Clumsiness	4287	ATXN3	ORPHA:276241
HP:0002312	Clumsiness	4287	ATXN3	ORPHA:276238
HP:0002312	Clumsiness	6638	SNRPN	OMIM:105830
HP:0002312	Clumsiness	7337	UBE3A	OMIM:105830
HP:0002312	Clumsiness	825	CAPN3	OMIM:253600
HP:0002312	Clumsiness	79581	SLC52A2	OMIM:614707
HP:0002312	Clumsiness	11128	POLR3A	ORPHA:447896
HP:0002312	Clumsiness	4125	MAN2B1	ORPHA:309282
HP:0002312	Clumsiness	4125	MAN2B1	ORPHA:309288
HP:0002312	Clumsiness	2334	AFF2	ORPHA:100973
HP:0002312	Clumsiness	2581	GALC	ORPHA:206443
HP:0002312	Clumsiness	2581	GALC	ORPHA:206448
HP:0002312	Clumsiness	23030	KDM4B	OMIM:619320
HP:0002312	Clumsiness	10157	AASS	ORPHA:2203
HP:0002312	Clumsiness	7274	TTPA	OMIM:277460
HP:0002312	Clumsiness	859	CAV3	ORPHA:488650
HP:0002312	Clumsiness	3736	KCNA1	ORPHA:37612
HP:0002312	Clumsiness	10522	DEAF1	ORPHA:468620
HP:0002312	Clumsiness	56652	TWNK	OMIM:271245
HP:0002312	Clumsiness	7252	TSHB	ORPHA:90674
HP:0002312	Clumsiness	2592	GALT	ORPHA:79239
HP:0002312	Clumsiness	1200	TPP1	ORPHA:284324
HP:0002312	Clumsiness	1200	TPP1	OMIM:609270
HP:0002312	Clumsiness	427	ASAH1	ORPHA:2590
HP:0002312	Clumsiness	79868	ALG13	ORPHA:324422
HP:0002312	Clumsiness	51	ACOX1	OMIM:618960
HP:0002312	Clumsiness	80025	PANK2	ORPHA:216873
HP:0002312	Clumsiness	54941	RNF125	OMIM:616260
HP:0002312	Clumsiness	6389	SDHA	OMIM:619259
HP:0002312	Clumsiness	55157	DARS2	ORPHA:137898
HP:0002312	Clumsiness	84665	MYPN	ORPHA:171439
HP:0002312	Clumsiness	58	ACTA1	ORPHA:171439
HP:0002312	Clumsiness	7169	TPM2	ORPHA:171439
HP:0002312	Clumsiness	390594	KBTBD13	ORPHA:171439
HP:0002312	Clumsiness	4703	NEB	ORPHA:171439
HP:0002312	Clumsiness	10324	KLHL41	ORPHA:171439
HP:0002312	Clumsiness	7170	TPM3	ORPHA:171439
HP:0002312	Clumsiness	2055	CLN8	OMIM:610003
HP:0002312	Clumsiness	2055	CLN8	ORPHA:1947
HP:0002312	Clumsiness	4137	MAPT	ORPHA:240112
HP:0002312	Clumsiness	7273	TTN	ORPHA:609
HP:0002312	Clumsiness	10815	CPLX1	ORPHA:352582
HP:0002312	Clumsiness	57465	TBC1D24	ORPHA:352582
HP:0002312	Clumsiness	9997	SCO2	ORPHA:521411
HP:0002312	Clumsiness	23732	FRRS1L	ORPHA:725
HP:0002312	Clumsiness	2903	GRIN2A	ORPHA:725
HP:0002312	Clumsiness	8878	SQSTM1	ORPHA:603
HP:0002312	Clumsiness	7072	TIA1	ORPHA:603
HP:0002312	Clumsiness	7080	NKX2-1	ORPHA:209905
HP:0002312	Clumsiness	51102	MECR	OMIM:617282
HP:0002312	Clumsiness	2705	GJB1	ORPHA:1175
HP:0002312	Clumsiness	492	ATP2B3	ORPHA:314978
HP:0002312	Clumsiness	113278	SLC52A3	OMIM:211530
HP:0002312	Clumsiness	165918	RNF168	ORPHA:420741
HP:0002312	Clumsiness	220296	HEPACAM	OMIM:613926
HP:0002312	Clumsiness	5376	PMP22	ORPHA:3115
HP:0002312	Clumsiness	4359	MPZ	ORPHA:3115
HP:0002312	Clumsiness	10456	HAX1	OMIM:610738
HP:0002313	Spastic paraparesis	23111	SPART	OMIM:275900
HP:0002313	Spastic paraparesis	23111	SPART	ORPHA:101000
HP:0002313	Spastic paraparesis	4524	MTHFR	ORPHA:395
HP:0002313	Spastic paraparesis	84265	POLR3GL	OMIM:619234
HP:0002313	Spastic paraparesis	91574	MTRFR	ORPHA:254930
HP:0002313	Spastic paraparesis	91574	MTRFR	ORPHA:320375
HP:0002313	Spastic paraparesis	4099	MAG	OMIM:616680
HP:0002313	Spastic paraparesis	10159	ATP6AP2	ORPHA:363654
HP:0002313	Spastic paraparesis	55532	SLC30A10	ORPHA:309854
HP:0002313	Spastic paraparesis	55532	SLC30A10	OMIM:613280
HP:0002313	Spastic paraparesis	1593	CYP27A1	ORPHA:909
HP:0002313	Spastic paraparesis	54902	TTC19	OMIM:615157
HP:0002313	Spastic paraparesis	9255	AIMP1	OMIM:260600
HP:0002313	Spastic paraparesis	3425	IDUA	ORPHA:93474
HP:0002313	Spastic paraparesis	3425	IDUA	ORPHA:93473
HP:0002313	Spastic paraparesis	57165	GJC2	OMIM:608804
HP:0002313	Spastic paraparesis	54880	BCOR	OMIM:300166
HP:0002313	Spastic paraparesis	2670	GFAP	ORPHA:363722
HP:0002313	Spastic paraparesis	440193	CCDC88C	OMIM:616053
HP:0002313	Spastic paraparesis	440193	CCDC88C	ORPHA:423275
HP:0002313	Spastic paraparesis	80207	OPA3	ORPHA:67047
HP:0002313	Spastic paraparesis	125988	MICOS13	ORPHA:67047
HP:0002313	Spastic paraparesis	80347	COASY	OMIM:615643
HP:0002313	Spastic paraparesis	80347	COASY	ORPHA:397725
HP:0002313	Spastic paraparesis	9409	PEX16	OMIM:614877
HP:0002313	Spastic paraparesis	1910	EDNRB	OMIM:277580
HP:0002313	Spastic paraparesis	11152	WDR45	ORPHA:329284
HP:0002313	Spastic paraparesis	11152	WDR45	OMIM:300894
HP:0002313	Spastic paraparesis	93587	TRMT10A	ORPHA:391408
HP:0002313	Spastic paraparesis	84919	PPP1R15B	ORPHA:391408
HP:0002313	Spastic paraparesis	6663	SOX10	OMIM:609136
HP:0002313	Spastic paraparesis	5354	PLP1	ORPHA:280229
HP:0002313	Spastic paraparesis	10166	SLC25A15	OMIM:238970
HP:0002313	Spastic paraparesis	51324	SPG21	OMIM:248900
HP:0002313	Spastic paraparesis	55149	MTPAP	OMIM:613672
HP:0002313	Spastic paraparesis	55149	MTPAP	ORPHA:254343
HP:0002313	Spastic paraparesis	6389	SDHA	ORPHA:3208
HP:0002313	Spastic paraparesis	6390	SDHB	ORPHA:3208
HP:0002313	Spastic paraparesis	6392	SDHD	ORPHA:3208
HP:0002313	Spastic paraparesis	644096	SDHAF1	ORPHA:3208
HP:0002313	Spastic paraparesis	10939	AFG3L2	OMIM:614487
HP:0002313	Spastic paraparesis	10939	AFG3L2	ORPHA:313772
HP:0002313	Spastic paraparesis	383	ARG1	OMIM:207800
HP:0002313	Spastic paraparesis	2806	GOT2	OMIM:618721
HP:0002313	Spastic paraparesis	84188	FAR1	OMIM:619338
HP:0002313	Spastic paraparesis	686	BTD	ORPHA:79241
HP:0002313	Spastic paraparesis	5428	POLG	ORPHA:726
HP:0002313	Spastic paraparesis	23389	MED13L	ORPHA:369891
HP:0002313	Spastic paraparesis	7276	TTR	OMIM:105210
HP:0002313	Spastic paraparesis	2697	GJA1	ORPHA:2710
HP:0002313	Spastic paraparesis	224	ALDH3A2	OMIM:270200
HP:0002313	Spastic paraparesis	4860	PNP	ORPHA:760
HP:0002313	Spastic paraparesis	58497	PRUNE1	ORPHA:544469
HP:0002313	Spastic paraparesis	9907	AP5Z1	OMIM:613647
HP:0002313	Spastic paraparesis	10535	RNASEH2A	ORPHA:51
HP:0002313	Spastic paraparesis	84153	RNASEH2C	ORPHA:51
HP:0002313	Spastic paraparesis	25939	SAMHD1	ORPHA:51
HP:0002313	Spastic paraparesis	79621	RNASEH2B	ORPHA:51
HP:0002313	Spastic paraparesis	103	ADAR	ORPHA:51
HP:0002313	Spastic paraparesis	11277	TREX1	ORPHA:51
HP:0002313	Spastic paraparesis	100147744	RNU7-1	ORPHA:51
HP:0002313	Spastic paraparesis	134353	LSM11	ORPHA:51
HP:0002313	Spastic paraparesis	64135	IFIH1	ORPHA:51
HP:0002313	Spastic paraparesis	2629	GBA1	OMIM:231000
HP:0002313	Spastic paraparesis	126129	CPT1C	ORPHA:444099
HP:0002313	Spastic paraparesis	85465	SELENOI	ORPHA:506353
HP:0002313	Spastic paraparesis	6687	SPG7	ORPHA:35689
HP:0002313	Spastic paraparesis	2581	GALC	ORPHA:206448
HP:0002313	Spastic paraparesis	79152	FA2H	ORPHA:329308
HP:0002313	Spastic paraparesis	215	ABCD1	ORPHA:139399
HP:0002313	Spastic paraparesis	6905	TBCE	ORPHA:496756
HP:0002314	Degeneration of the lateral corticospinal tracts	6253	RTN2	ORPHA:100993
HP:0002314	Degeneration of the lateral corticospinal tracts	51271	UBAP1	ORPHA:100993
HP:0002314	Degeneration of the lateral corticospinal tracts	126129	CPT1C	ORPHA:444099
HP:0002314	Degeneration of the lateral corticospinal tracts	9897	WASHC5	OMIM:603563
HP:0002314	Degeneration of the lateral corticospinal tracts	9897	WASHC5	ORPHA:100989
HP:0002314	Degeneration of the lateral corticospinal tracts	123606	NIPA1	OMIM:600363
HP:0002314	Degeneration of the lateral corticospinal tracts	6687	SPG7	OMIM:607259
HP:0002314	Degeneration of the lateral corticospinal tracts	3839	KPNA3	ORPHA:171612
HP:0002314	Degeneration of the lateral corticospinal tracts	9197	SLC33A1	ORPHA:171863
HP:0002314	Degeneration of the lateral corticospinal tracts	6683	SPAST	OMIM:182601
HP:0002314	Degeneration of the lateral corticospinal tracts	51062	ATL1	OMIM:182600
HP:0002314	Degeneration of the lateral corticospinal tracts	6647	SOD1	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	5630	PRPH	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	1639	DCTN1	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	4744	NEFH	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	5354	PLP1	OMIM:312920
HP:0002314	Degeneration of the lateral corticospinal tracts	2521	FUS	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	8878	SQSTM1	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	7415	VCP	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	23435	TARDBP	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	29110	TBK1	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	400916	CHCHD10	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	80208	SPG11	OMIM:604360
HP:0002315	Headache	7291	TWIST1	ORPHA:794
HP:0002315	Headache	2263	FGFR2	ORPHA:794
HP:0002315	Headache	2261	FGFR3	ORPHA:794
HP:0002315	Headache	2261	FGFR3	ORPHA:93262
HP:0002315	Headache	94	ACVRL1	OMIM:600376
HP:0002315	Headache	94	ACVRL1	ORPHA:774
HP:0002315	Headache	4088	SMAD3	ORPHA:284984
HP:0002315	Headache	4088	SMAD3	OMIM:613795
HP:0002315	Headache	291	SLC25A4	ORPHA:254892
HP:0002315	Headache	5428	POLG	ORPHA:254892
HP:0002315	Headache	5428	POLG	ORPHA:70595
HP:0002315	Headache	5428	POLG	OMIM:607459
HP:0002315	Headache	56652	TWNK	ORPHA:254892
HP:0002315	Headache	56652	TWNK	ORPHA:70595
HP:0002315	Headache	56652	TWNK	OMIM:271245
HP:0002315	Headache	56652	TWNK	OMIM:607459
HP:0002315	Headache	11232	POLG2	ORPHA:254892
HP:0002315	Headache	50484	RRM2B	ORPHA:254892
HP:0002315	Headache	50484	RRM2B	ORPHA:329336
HP:0002315	Headache	25970	SH2B1	ORPHA:261222
HP:0002315	Headache	2811	GP1BA	ORPHA:274
HP:0002315	Headache	2812	GP1BB	ORPHA:274
HP:0002315	Headache	2815	GP9	ORPHA:274
HP:0002315	Headache	246243	RNASEH1	ORPHA:329336
HP:0002315	Headache	6513	SLC2A1	OMIM:612126
HP:0002315	Headache	6513	SLC2A1	OMIM:601042
HP:0002315	Headache	23600	AMACR	OMIM:614307
HP:0002315	Headache	23600	AMACR	ORPHA:79095
HP:0002315	Headache	51816	ADA2	ORPHA:820
HP:0002315	Headache	773	CACNA1A	OMIM:108500
HP:0002315	Headache	773	CACNA1A	ORPHA:97
HP:0002315	Headache	773	CACNA1A	ORPHA:71518
HP:0002315	Headache	773	CACNA1A	OMIM:141500
HP:0002315	Headache	6507	SLC1A3	ORPHA:209967
HP:0002315	Headache	6507	SLC1A3	OMIM:612656
HP:0002315	Headache	4072	EPCAM	ORPHA:144
HP:0002315	Headache	4292	MLH1	ORPHA:144
HP:0002315	Headache	5395	PMS2	ORPHA:144
HP:0002315	Headache	27030	MLH3	ORPHA:144
HP:0002315	Headache	22909	FAN1	ORPHA:144
HP:0002315	Headache	7048	TGFBR2	ORPHA:144
HP:0002315	Headache	3845	KRAS	ORPHA:144
HP:0002315	Headache	5290	PIK3CA	ORPHA:144
HP:0002315	Headache	2956	MSH6	ORPHA:144
HP:0002315	Headache	5378	PMS1	ORPHA:144
HP:0002315	Headache	4436	MSH2	ORPHA:144
HP:0002315	Headache	351	APP	ORPHA:324713
HP:0002315	Headache	351	APP	ORPHA:324703
HP:0002315	Headache	5155	PDGFB	OMIM:615483
HP:0002315	Headache	64218	SEMA4A	ORPHA:440437
HP:0002315	Headache	657	BMPR1A	ORPHA:440437
HP:0002315	Headache	6224	RPS20	ORPHA:440437
HP:0002315	Headache	3350	HTR1A	OMIM:614674
HP:0002315	Headache	5159	PDGFRB	OMIM:615007
HP:0002315	Headache	1289	COL5A1	OMIM:619329
HP:0002315	Headache	7132	TNFRSF1A	ORPHA:32960
HP:0002315	Headache	10059	DNM1L	ORPHA:98673
HP:0002315	Headache	4976	OPA1	ORPHA:98673
HP:0002315	Headache	4976	OPA1	ORPHA:1215
HP:0002315	Headache	4519	MT-CYB	OMIM:540000
HP:0002315	Headache	4511	MT-TC	OMIM:540000
HP:0002315	Headache	4566	MT-TK	OMIM:540000
HP:0002315	Headache	4577	MT-TV	OMIM:540000
HP:0002315	Headache	2022	ENG	OMIM:187300
HP:0002315	Headache	2022	ENG	ORPHA:774
HP:0002315	Headache	182	JAG1	OMIM:619574
HP:0002315	Headache	9692	PRORP	OMIM:619737
HP:0002315	Headache	83550	GPR101	ORPHA:963
HP:0002315	Headache	9049	AIP	ORPHA:963
HP:0002315	Headache	1281	COL3A1	ORPHA:286
HP:0002315	Headache	58472	SQOR	OMIM:619221
HP:0002315	Headache	92949	ADAMTSL1	ORPHA:521445
HP:0002315	Headache	65998	ZFTA	ORPHA:251636
HP:0002315	Headache	5970	RELA	ORPHA:251636
HP:0002315	Headache	114548	NLRP3	ORPHA:1451
HP:0002315	Headache	5230	PGK1	ORPHA:713
HP:0002315	Headache	5230	PGK1	OMIM:300653
HP:0002315	Headache	112476	PRRT2	OMIM:605751
HP:0002315	Headache	112476	PRRT2	ORPHA:98809
HP:0002315	Headache	80216	ALPK1	OMIM:614979
HP:0002315	Headache	10528	NOP56	ORPHA:276198
HP:0002315	Headache	4854	NOTCH3	OMIM:125310
HP:0002315	Headache	4854	NOTCH3	ORPHA:136
HP:0002315	Headache	477	ATP1A2	OMIM:602481
HP:0002315	Headache	11277	TREX1	OMIM:192315
HP:0002315	Headache	11277	TREX1	ORPHA:247691
HP:0002315	Headache	3736	KCNA1	ORPHA:98809
HP:0002315	Headache	1282	COL4A1	OMIM:175780
HP:0002315	Headache	4784	NFIX	ORPHA:420179
HP:0002315	Headache	8405	SPOP	OMIM:618829
HP:0002315	Headache	2624	GATA2	ORPHA:3226
HP:0002315	Headache	4598	MVK	ORPHA:343
HP:0002315	Headache	56910	STARD7	OMIM:607876
HP:0002315	Headache	9508	ADAMTS3	OMIM:618154
HP:0002315	Headache	6786	STIM1	OMIM:185070
HP:0002315	Headache	2050	EPHB4	ORPHA:137667
HP:0002315	Headache	5921	RASA1	ORPHA:137667
HP:0002315	Headache	57462	MYORG	OMIM:618317
HP:0002315	Headache	50485	SMARCAL1	OMIM:242900
HP:0002315	Headache	6598	SMARCB1	ORPHA:99966
HP:0002315	Headache	2658	GDF2	ORPHA:774
HP:0002315	Headache	4089	SMAD4	ORPHA:774
HP:0002315	Headache	1315	COPB1	OMIM:619255
HP:0002315	Headache	340024	SLC6A19	ORPHA:2116
HP:0002315	Headache	57393	CLTRN	ORPHA:2116
HP:0002315	Headache	8799	PEX11B	OMIM:614920
HP:0002315	Headache	3593	IL12B	ORPHA:3287
HP:0002315	Headache	3106	HLA-B	ORPHA:3287
HP:0002315	Headache	3106	HLA-B	ORPHA:117
HP:0002315	Headache	6945	MLX	ORPHA:3287
HP:0002315	Headache	27286	SRPX2	ORPHA:1945
HP:0002315	Headache	2903	GRIN2A	ORPHA:1945
HP:0002315	Headache	2566	GABRG2	ORPHA:1945
HP:0002315	Headache	4693	NDP	ORPHA:649
HP:0002315	Headache	84978	FRMD5	OMIM:620094
HP:0002315	Headache	197322	ACSF3	ORPHA:289504
HP:0002315	Headache	4615	MYD88	ORPHA:33226
HP:0002315	Headache	5649	RELN	ORPHA:101046
HP:0002315	Headache	9211	LGI1	ORPHA:101046
HP:0002315	Headache	9681	DEPDC5	ORPHA:101046
HP:0002315	Headache	1453	CSNK1D	OMIM:615224
HP:0002315	Headache	149233	IL23R	ORPHA:117
HP:0002315	Headache	6775	STAT4	ORPHA:117
HP:0002315	Headache	3586	IL10	ORPHA:117
HP:0002315	Headache	4210	MEFV	ORPHA:117
HP:0002315	Headache	1230	CCR1	ORPHA:117
HP:0002315	Headache	355	FAS	ORPHA:117
HP:0002315	Headache	3592	IL12A	ORPHA:117
HP:0002315	Headache	101928376	IL12A-AS1	ORPHA:117
HP:0002315	Headache	7099	TLR4	ORPHA:117
HP:0002315	Headache	3459	IFNGR1	ORPHA:117
HP:0002315	Headache	720	C4A	ORPHA:117
HP:0002315	Headache	337867	UBAC2	ORPHA:117
HP:0002315	Headache	51752	ERAP1	ORPHA:117
HP:0002315	Headache	8302	KLRC4	ORPHA:117
HP:0002315	Headache	1909	EDNRA	OMIM:157300
HP:0002315	Headache	2099	ESR1	OMIM:157300
HP:0002315	Headache	7124	TNF	OMIM:157300
HP:0002315	Headache	338567	KCNK18	OMIM:613656
HP:0002315	Headache	6323	SCN1A	OMIM:609634
HP:0002315	Headache	6323	SCN1A	ORPHA:569
HP:0002315	Headache	50964	SOST	OMIM:269500
HP:0002315	Headache	50964	SOST	OMIM:122860
HP:0002315	Headache	26191	PTPN22	ORPHA:397
HP:0002315	Headache	26191	PTPN22	ORPHA:900
HP:0002315	Headache	3123	HLA-DRB1	ORPHA:397
HP:0002315	Headache	8974	P4HA2	ORPHA:397
HP:0002315	Headache	4352	MPL	ORPHA:71493
HP:0002315	Headache	4352	MPL	ORPHA:729
HP:0002315	Headache	7066	THPO	ORPHA:71493
HP:0002315	Headache	3717	JAK2	ORPHA:71493
HP:0002315	Headache	3717	JAK2	ORPHA:729
HP:0002315	Headache	3717	JAK2	OMIM:133100
HP:0002315	Headache	356	FASLG	ORPHA:3261
HP:0002315	Headache	5580	PRKCD	ORPHA:3261
HP:0002315	Headache	843	CASP10	ORPHA:3261
HP:0002315	Headache	10125	RASGRP1	ORPHA:3261
HP:0002315	Headache	4524	MTHFR	ORPHA:395
HP:0002315	Headache	51102	MECR	ORPHA:508093
HP:0002315	Headache	85446	ZFHX2	OMIM:147430
HP:0002315	Headache	171023	ASXL1	ORPHA:98849
HP:0002315	Headache	54790	TET2	ORPHA:98849
HP:0002315	Headache	54790	TET2	ORPHA:729
HP:0002315	Headache	3815	KIT	ORPHA:98849
HP:0002315	Headache	3815	KIT	ORPHA:79455
HP:0002315	Headache	6427	SRSF2	ORPHA:98849
HP:0002315	Headache	324	APC	ORPHA:99818
HP:0002315	Headache	79577	CDC73	ORPHA:143
HP:0002315	Headache	79577	CDC73	ORPHA:99880
HP:0002315	Headache	4221	MEN1	ORPHA:2965
HP:0002315	Headache	4221	MEN1	ORPHA:652
HP:0002315	Headache	64072	CDH23	ORPHA:2965
HP:0002315	Headache	64072	CDH23	ORPHA:96253
HP:0002315	Headache	64072	CDH23	ORPHA:91347
HP:0002315	Headache	7040	TGFB1	OMIM:131300
HP:0002315	Headache	7276	TTR	OMIM:105210
HP:0002315	Headache	1277	COL1A1	ORPHA:287
HP:0002315	Headache	1290	COL5A2	ORPHA:287
HP:0002315	Headache	1175	AP2S1	OMIM:600740
HP:0002315	Headache	57190	SELENON	ORPHA:2020
HP:0002315	Headache	58	ACTA1	ORPHA:2020
HP:0002315	Headache	4633	MYL2	ORPHA:2020
HP:0002315	Headache	3679	ITGA7	ORPHA:2020
HP:0002315	Headache	7169	TPM2	ORPHA:2020
HP:0002315	Headache	9200	HACD1	ORPHA:2020
HP:0002315	Headache	7170	TPM3	ORPHA:2020
HP:0002315	Headache	51776	MAP3K20	ORPHA:2020
HP:0002315	Headache	776	CACNA1D	ORPHA:369929
HP:0002315	Headache	54805	CNNM2	OMIM:613882
HP:0002315	Headache	2783	GNB2	OMIM:619503
HP:0002315	Headache	4853	NOTCH2	ORPHA:955
HP:0002315	Headache	54	ACP5	ORPHA:1855
HP:0002315	Headache	2313	FLI1	ORPHA:370348
HP:0002315	Headache	1499	CTNNB1	ORPHA:54595
HP:0002315	Headache	673	BRAF	ORPHA:54595
HP:0002315	Headache	673	BRAF	ORPHA:96253
HP:0002315	Headache	10019	SH2B3	OMIM:133100
HP:0002315	Headache	2057	EPOR	OMIM:133100
HP:0002315	Headache	2057	EPOR	ORPHA:90042
HP:0002315	Headache	1727	CYB5R3	OMIM:250800
HP:0002315	Headache	51604	PIGT	OMIM:615399
HP:0002315	Headache	2321	FLT1	ORPHA:275555
HP:0002315	Headache	219736	STOX1	ORPHA:275555
HP:0002315	Headache	10699	CORIN	ORPHA:275555
HP:0002315	Headache	8314	BAP1	ORPHA:2495
HP:0002315	Headache	4771	NF2	ORPHA:2495
HP:0002315	Headache	4771	NF2	OMIM:101000
HP:0002315	Headache	84231	TRAF7	ORPHA:2495
HP:0002315	Headache	6608	SMO	ORPHA:2495
HP:0002315	Headache	207	AKT1	ORPHA:2495
HP:0002315	Headache	7015	TERT	ORPHA:2495
HP:0002315	Headache	51684	SUFU	ORPHA:2495
HP:0002315	Headache	6605	SMARCE1	ORPHA:2495
HP:0002315	Headache	478	ATP1A3	ORPHA:2131
HP:0002315	Headache	10056	FARSB	OMIM:613658
HP:0002315	Headache	1493	CTLA4	ORPHA:900
HP:0002315	Headache	3115	HLA-DPB1	ORPHA:900
HP:0002315	Headache	5657	PRTN3	ORPHA:900
HP:0002315	Headache	3113	HLA-DPA1	ORPHA:900
HP:0002315	Headache	51284	TLR7	OMIM:301080
HP:0002315	Headache	30813	VSX1	OMIM:614195
HP:0002315	Headache	9493	KIF23	ORPHA:98870
HP:0002315	Headache	29127	RACGAP1	ORPHA:98870
HP:0002315	Headache	4488	MSX2	OMIM:604757
HP:0002315	Headache	4488	MSX2	ORPHA:60015
HP:0002315	Headache	4488	MSX2	OMIM:168500
HP:0002315	Headache	60529	ALX4	ORPHA:60015
HP:0002315	Headache	2157	F8	ORPHA:169805
HP:0002315	Headache	2157	F8	ORPHA:169802
HP:0002315	Headache	162417	NAGS	ORPHA:927
HP:0002315	Headache	81839	VANGL1	OMIM:600145
HP:0002315	Headache	5728	PTEN	ORPHA:65285
HP:0002315	Headache	3980	LIG3	OMIM:619780
HP:0002315	Headache	80199	FUZ	ORPHA:1136
HP:0002315	Headache	10535	RNASEH2A	ORPHA:51
HP:0002315	Headache	84153	RNASEH2C	ORPHA:51
HP:0002315	Headache	25939	SAMHD1	ORPHA:51
HP:0002315	Headache	79621	RNASEH2B	ORPHA:51
HP:0002315	Headache	103	ADAR	ORPHA:51
HP:0002315	Headache	100147744	RNU7-1	ORPHA:51
HP:0002315	Headache	134353	LSM11	ORPHA:51
HP:0002315	Headache	64135	IFIH1	ORPHA:51
HP:0002315	Headache	3762	KCNJ5	ORPHA:251274
HP:0002315	Headache	165918	RNF168	ORPHA:420741
HP:0002315	Headache	1188	CLCNKB	ORPHA:358
HP:0002315	Headache	6559	SLC12A3	ORPHA:358
HP:0002315	Headache	7187	TRAF3	ORPHA:1930
HP:0002315	Headache	81622	UNC93B1	ORPHA:1930
HP:0002315	Headache	148022	TICAM1	ORPHA:1930
HP:0002315	Headache	7098	TLR3	ORPHA:1930
HP:0002315	Headache	29110	TBK1	ORPHA:1930
HP:0002315	Headache	2639	GCDH	ORPHA:25
HP:0002315	Headache	6696	SPP1	ORPHA:93552
HP:0002315	Headache	3654	IRAK1	ORPHA:93552
HP:0002315	Headache	6261	RYR1	ORPHA:466650
HP:0002315	Headache	11235	PDCD10	ORPHA:221061
HP:0002315	Headache	11235	PDCD10	OMIM:603285
HP:0002315	Headache	83605	CCM2	ORPHA:221061
HP:0002315	Headache	83605	CCM2	OMIM:603284
HP:0002315	Headache	889	KRIT1	ORPHA:221061
HP:0002315	Headache	889	KRIT1	OMIM:116860
HP:0002315	Headache	10560	SLC19A2	ORPHA:49827
HP:0002315	Headache	1991	ELANE	ORPHA:2686
HP:0002315	Headache	4868	NPHS1	ORPHA:656
HP:0002315	Headache	23607	CD2AP	ORPHA:656
HP:0002315	Headache	9688	NUP93	ORPHA:656
HP:0002315	Headache	4643	MYO1E	ORPHA:656
HP:0002315	Headache	64423	INF2	ORPHA:656
HP:0002315	Headache	26130	GAPVD1	ORPHA:656
HP:0002315	Headache	7490	WT1	ORPHA:656
HP:0002315	Headache	57122	NUP107	ORPHA:656
HP:0002315	Headache	51479	ANKFY1	ORPHA:656
HP:0002315	Headache	54443	ANLN	ORPHA:656
HP:0002315	Headache	5800	PTPRO	ORPHA:656
HP:0002315	Headache	286204	CRB2	ORPHA:656
HP:0002315	Headache	23165	NUP205	ORPHA:656
HP:0002315	Headache	2013	EMP2	ORPHA:656
HP:0002315	Headache	79023	NUP37	ORPHA:656
HP:0002315	Headache	51196	PLCE1	ORPHA:656
HP:0002315	Headache	79902	NUP85	ORPHA:656
HP:0002315	Headache	1285	COL4A3	ORPHA:656
HP:0002315	Headache	396	ARHGDIA	ORPHA:656
HP:0002315	Headache	79934	COQ8B	ORPHA:656
HP:0002315	Headache	23279	NUP160	ORPHA:656
HP:0002315	Headache	9863	MAGI2	ORPHA:656
HP:0002315	Headache	81	ACTN4	ORPHA:656
HP:0002315	Headache	7225	TRPC6	ORPHA:656
HP:0002315	Headache	8542	APOL1	ORPHA:656
HP:0002315	Headache	54885	TBC1D8B	ORPHA:656
HP:0002315	Headache	7827	NPHS2	ORPHA:656
HP:0002315	Headache	83478	ARHGAP24	ORPHA:656
HP:0002315	Headache	23500	DAAM2	ORPHA:656
HP:0002315	Headache	5076	PAX2	ORPHA:656
HP:0002315	Headache	55746	NUP133	ORPHA:656
HP:0002315	Headache	9663	LPIN2	ORPHA:77297
HP:0002315	Headache	84196	USP48	ORPHA:96253
HP:0002315	Headache	7157	TP53	ORPHA:96253
HP:0002315	Headache	7157	TP53	OMIM:260500
HP:0002315	Headache	9101	USP8	ORPHA:96253
HP:0002315	Headache	2908	NR3C1	ORPHA:96253
HP:0002315	Headache	546	ATRX	ORPHA:96253
HP:0002315	Headache	51116	MRPS2	OMIM:617950
HP:0002315	Headache	1181	CLCN2	OMIM:615651
HP:0002315	Headache	1181	CLCN2	ORPHA:404
HP:0002315	Headache	4128	MAOA	OMIM:300615
HP:0002315	Headache	6331	SCN5A	ORPHA:1344
HP:0002315	Headache	4878	NPPA	ORPHA:1344
HP:0002315	Headache	2077	ERF	ORPHA:207
HP:0002315	Headache	5277	PIGA	ORPHA:447
HP:0002315	Headache	8792	TNFRSF11A	OMIM:602080
HP:0002315	Headache	27019	DNAI1	OMIM:244400
HP:0002315	Headache	4041	LRP5	ORPHA:178377
HP:0002315	Headache	4041	LRP5	OMIM:607634
HP:0002315	Headache	378884	NHLRC1	ORPHA:501
HP:0002315	Headache	7957	EPM2A	ORPHA:501
HP:0002315	Headache	151	ADRA2B	ORPHA:86814
HP:0002315	Headache	55689	YEATS2	ORPHA:86814
HP:0002315	Headache	1501	CTNND2	ORPHA:86814
HP:0002315	Headache	10299	MARCHF6	ORPHA:86814
HP:0002315	Headache	6900	CNTN2	ORPHA:86814
HP:0002315	Headache	401474	SAMD12	ORPHA:86814
HP:0002315	Headache	4780	NFE2L2	OMIM:617744
HP:0002315	Headache	3075	CFH	ORPHA:244242
HP:0002315	Headache	3426	CFI	ORPHA:244242
HP:0002315	Headache	4179	CD46	ORPHA:244242
HP:0002315	Headache	101101692	HELLPAR	ORPHA:244242
HP:0002315	Headache	3661	IRF3	OMIM:616532
HP:0002315	Headache	91662	NLRP12	OMIM:611762
HP:0002315	Headache	5654	HTRA1	OMIM:616779
HP:0002315	Headache	23516	SLC39A14	OMIM:144755
HP:0002315	Headache	139285	AMER1	OMIM:300373
HP:0002315	Headache	595	CCND1	ORPHA:892
HP:0002315	Headache	1027	CDKN1B	ORPHA:652
HP:0002315	Headache	1026	CDKN1A	ORPHA:652
HP:0002315	Headache	1030	CDKN2B	ORPHA:652
HP:0002315	Headache	1031	CDKN2C	ORPHA:652
HP:0002315	Headache	2629	GBA1	ORPHA:2072
HP:0002315	Headache	9365	KL	OMIM:617994
HP:0002315	Headache	1376	CPT2	ORPHA:228305
HP:0002315	Headache	4508	MT-ATP6	ORPHA:644
HP:0002315	Headache	1584	CYP11B1	ORPHA:403
HP:0002315	Headache	1585	CYP11B2	ORPHA:403
HP:0002315	Headache	587	BCAT2	OMIM:618850
HP:0002315	Headache	8942	KYNU	ORPHA:79155
HP:0002315	Headache	22943	DKK1	ORPHA:268882
HP:0002315	Headache	7428	VHL	ORPHA:29072
HP:0002315	Headache	7428	VHL	ORPHA:276621
HP:0002315	Headache	1743	DLST	ORPHA:29072
HP:0002315	Headache	4191	MDH2	ORPHA:29072
HP:0002315	Headache	5979	RET	ORPHA:29072
HP:0002315	Headache	5979	RET	ORPHA:276621
HP:0002315	Headache	6389	SDHA	ORPHA:29072
HP:0002315	Headache	23095	KIF1B	ORPHA:29072
HP:0002315	Headache	2271	FH	ORPHA:29072
HP:0002315	Headache	8402	SLC25A11	ORPHA:29072
HP:0002315	Headache	54949	SDHAF2	ORPHA:29072
HP:0002315	Headache	55654	TMEM127	ORPHA:29072
HP:0002315	Headache	4763	NF1	ORPHA:29072
HP:0002315	Headache	6391	SDHC	ORPHA:29072
HP:0002315	Headache	6391	SDHC	OMIM:605373
HP:0002315	Headache	6392	SDHD	ORPHA:29072
HP:0002315	Headache	6392	SDHD	OMIM:168000
HP:0002315	Headache	6392	SDHD	ORPHA:276621
HP:0002315	Headache	6390	SDHB	ORPHA:29072
HP:0002315	Headache	6390	SDHB	ORPHA:276621
HP:0002315	Headache	6390	SDHB	OMIM:115310
HP:0002315	Headache	4149	MAX	ORPHA:29072
HP:0002315	Headache	4558	MT-TF	ORPHA:550
HP:0002315	Headache	4572	MT-TQ	ORPHA:550
HP:0002315	Headache	4512	MT-CO1	ORPHA:550
HP:0002315	Headache	4513	MT-CO2	ORPHA:550
HP:0002315	Headache	4514	MT-CO3	ORPHA:550
HP:0002315	Headache	4578	MT-TW	ORPHA:550
HP:0002315	Headache	4540	MT-ND5	ORPHA:550
HP:0002315	Headache	4541	MT-ND6	ORPHA:550
HP:0002315	Headache	4535	MT-ND1	ORPHA:550
HP:0002315	Headache	4538	MT-ND4	ORPHA:550
HP:0002315	Headache	4567	MT-TL1	ORPHA:550
HP:0002315	Headache	4574	MT-TS1	ORPHA:550
HP:0002315	Headache	4575	MT-TS2	ORPHA:550
HP:0002315	Headache	4564	MT-TH	ORPHA:550
HP:0002315	Headache	1788	DNMT3A	ORPHA:276621
HP:0002315	Headache	2034	EPAS1	ORPHA:276621
HP:0002317	Unsteady gait	1203	CLN5	ORPHA:228360
HP:0002317	Unsteady gait	64132	XYLT2	OMIM:605822
HP:0002317	Unsteady gait	25792	CIZ1	ORPHA:420492
HP:0002317	Unsteady gait	10749	KIF1C	ORPHA:397946
HP:0002317	Unsteady gait	80207	OPA3	ORPHA:67036
HP:0002317	Unsteady gait	9853	RUSC2	OMIM:617773
HP:0002317	Unsteady gait	2132	EXT2	OMIM:616682
HP:0002317	Unsteady gait	10765	KDM5B	OMIM:618109
HP:0002317	Unsteady gait	4137	MAPT	ORPHA:240094
HP:0002317	Unsteady gait	7167	TPI1	OMIM:615512
HP:0002317	Unsteady gait	1161	ERCC8	ORPHA:90324
HP:0002317	Unsteady gait	2074	ERCC6	ORPHA:90324
HP:0002317	Unsteady gait	4311	MME	OMIM:617017
HP:0002317	Unsteady gait	4311	MME	ORPHA:497764
HP:0002317	Unsteady gait	8924	HERC2	OMIM:615516
HP:0002317	Unsteady gait	4967	OGDH	OMIM:203740
HP:0002317	Unsteady gait	2617	GARS1	ORPHA:139536
HP:0002317	Unsteady gait	26580	BSCL2	ORPHA:139536
HP:0002317	Unsteady gait	65055	REEP1	ORPHA:139536
HP:0002317	Unsteady gait	123263	MTFMT	OMIM:614947
HP:0002317	Unsteady gait	85358	SHANK3	OMIM:606232
HP:0002317	Unsteady gait	5457	POU4F1	ORPHA:314647
HP:0002317	Unsteady gait	23261	CAMTA1	ORPHA:314647
HP:0002317	Unsteady gait	23261	CAMTA1	OMIM:614756
HP:0002317	Unsteady gait	5111	PCNA	OMIM:615919
HP:0002317	Unsteady gait	10159	ATP6AP2	ORPHA:93952
HP:0002317	Unsteady gait	478	ATP1A3	OMIM:128235
HP:0002317	Unsteady gait	478	ATP1A3	ORPHA:442835
HP:0002317	Unsteady gait	6442	SGCA	OMIM:608099
HP:0002317	Unsteady gait	51218	GLRX5	ORPHA:401866
HP:0002317	Unsteady gait	10397	NDRG1	OMIM:601455
HP:0002317	Unsteady gait	10397	NDRG1	ORPHA:99950
HP:0002317	Unsteady gait	9227	LRAT	ORPHA:364055
HP:0002317	Unsteady gait	55812	SPATA7	ORPHA:364055
HP:0002317	Unsteady gait	6121	RPE65	ORPHA:364055
HP:0002317	Unsteady gait	167691	LCA5	ORPHA:364055
HP:0002317	Unsteady gait	440193	CCDC88C	OMIM:616053
HP:0002317	Unsteady gait	440193	CCDC88C	ORPHA:423275
HP:0002317	Unsteady gait	538	ATP7A	OMIM:300489
HP:0002317	Unsteady gait	1630	DCC	OMIM:617542
HP:0002317	Unsteady gait	6311	ATXN2	OMIM:183090
HP:0002317	Unsteady gait	10273	STUB1	OMIM:615768
HP:0002317	Unsteady gait	10273	STUB1	ORPHA:412057
HP:0002317	Unsteady gait	318	NUDT2	OMIM:619844
HP:0002317	Unsteady gait	55163	PNPO	ORPHA:79096
HP:0002317	Unsteady gait	55163	PNPO	OMIM:610090
HP:0002317	Unsteady gait	54344	DPM3	OMIM:612937
HP:0002317	Unsteady gait	5189	PEX1	OMIM:214100
HP:0002317	Unsteady gait	1725	DHPS	OMIM:618480
HP:0002317	Unsteady gait	547	KIF1A	ORPHA:101010
HP:0002317	Unsteady gait	4694	NDUFA1	OMIM:301020
HP:0002317	Unsteady gait	219285	SAMD9L	OMIM:159550
HP:0002317	Unsteady gait	219285	SAMD9L	OMIM:619806
HP:0002317	Unsteady gait	219285	SAMD9L	ORPHA:2585
HP:0002317	Unsteady gait	8575	PRKRA	ORPHA:210571
HP:0002317	Unsteady gait	10735	STAG2	OMIM:301022
HP:0002317	Unsteady gait	8888	MCM3AP	OMIM:618124
HP:0002317	Unsteady gait	9131	AIFM1	OMIM:300614
HP:0002317	Unsteady gait	5530	PPP3CA	OMIM:617711
HP:0002317	Unsteady gait	5530	PPP3CA	ORPHA:442835
HP:0002317	Unsteady gait	815	CAMK2A	OMIM:617798
HP:0002317	Unsteady gait	3064	HTT	OMIM:617435
HP:0002317	Unsteady gait	55157	DARS2	ORPHA:137898
HP:0002317	Unsteady gait	1183	CLCN4	ORPHA:485350
HP:0002317	Unsteady gait	8398	PLA2G6	ORPHA:35069
HP:0002317	Unsteady gait	8398	PLA2G6	OMIM:256600
HP:0002317	Unsteady gait	54332	GDAP1	ORPHA:101097
HP:0002317	Unsteady gait	54332	GDAP1	ORPHA:99948
HP:0002317	Unsteady gait	23203	PMPCA	OMIM:213200
HP:0002317	Unsteady gait	4361	MRE11	OMIM:604391
HP:0002317	Unsteady gait	9782	MATR3	ORPHA:600
HP:0002317	Unsteady gait	55187	VPS13D	ORPHA:95434
HP:0002317	Unsteady gait	27072	VPS41	ORPHA:95434
HP:0002317	Unsteady gait	5621	PRNP	OMIM:603218
HP:0002317	Unsteady gait	57531	HACE1	ORPHA:464282
HP:0002317	Unsteady gait	1605	DAG1	ORPHA:280333
HP:0002317	Unsteady gait	1605	DAG1	OMIM:613818
HP:0002317	Unsteady gait	26278	SACS	ORPHA:98
HP:0002317	Unsteady gait	64919	BCL11B	OMIM:618092
HP:0002317	Unsteady gait	6712	SPTBN2	OMIM:615386
HP:0002317	Unsteady gait	54681	P4HTM	OMIM:618493
HP:0002317	Unsteady gait	8802	SUCLG1	ORPHA:17
HP:0002317	Unsteady gait	80821	DDHD1	ORPHA:101008
HP:0002317	Unsteady gait	246243	RNASEH1	OMIM:616479
HP:0002317	Unsteady gait	56479	KCNQ5	OMIM:617601
HP:0002317	Unsteady gait	1600	DAB1	OMIM:615945
HP:0002317	Unsteady gait	1200	TPP1	OMIM:609270
HP:0002317	Unsteady gait	2705	GJB1	ORPHA:1175
HP:0002317	Unsteady gait	9731	CEP104	OMIM:619988
HP:0002317	Unsteady gait	3737	KCNA2	ORPHA:442835
HP:0002317	Unsteady gait	1759	DNM1	ORPHA:442835
HP:0002317	Unsteady gait	8120	AP3B2	ORPHA:442835
HP:0002317	Unsteady gait	523	ATP6V1A	ORPHA:442835
HP:0002317	Unsteady gait	10991	SLC38A3	ORPHA:442835
HP:0002317	Unsteady gait	51343	FZR1	ORPHA:442835
HP:0002317	Unsteady gait	22906	TRAK1	ORPHA:442835
HP:0002317	Unsteady gait	2566	GABRG2	ORPHA:442835
HP:0002317	Unsteady gait	1917	EEF1A2	ORPHA:442835
HP:0002317	Unsteady gait	1917	EEF1A2	OMIM:616409
HP:0002317	Unsteady gait	2561	GABRB2	ORPHA:442835
HP:0002317	Unsteady gait	8831	SYNGAP1	ORPHA:442835
HP:0002317	Unsteady gait	8831	SYNGAP1	ORPHA:1942
HP:0002317	Unsteady gait	7532	YWHAG	ORPHA:442835
HP:0002317	Unsteady gait	79876	UBA5	ORPHA:442835
HP:0002317	Unsteady gait	6328	SCN3A	ORPHA:442835
HP:0002317	Unsteady gait	2558	GABRA5	ORPHA:442835
HP:0002317	Unsteady gait	781	CACNA2D1	ORPHA:442835
HP:0002317	Unsteady gait	2906	GRIN2D	ORPHA:442835
HP:0002317	Unsteady gait	116150	NUS1	ORPHA:442835
HP:0002317	Unsteady gait	10659	CELF2	ORPHA:442835
HP:0002317	Unsteady gait	774	CACNA1B	ORPHA:442835
HP:0002317	Unsteady gait	1213	CLTC	ORPHA:442835
HP:0002317	Unsteady gait	51741	WWOX	ORPHA:442835
HP:0002317	Unsteady gait	23334	SZT2	ORPHA:442835
HP:0002317	Unsteady gait	51412	ACTL6B	ORPHA:442835
HP:0002317	Unsteady gait	348980	HCN1	ORPHA:442835
HP:0002317	Unsteady gait	6506	SLC1A2	ORPHA:442835
HP:0002317	Unsteady gait	8867	SYNJ1	ORPHA:442835
HP:0002317	Unsteady gait	2258	FGF13	ORPHA:442835
HP:0002317	Unsteady gait	477	ATP1A2	ORPHA:442835
HP:0002317	Unsteady gait	3745	KCNB1	ORPHA:442835
HP:0002317	Unsteady gait	284111	SLC13A5	ORPHA:442835
HP:0002317	Unsteady gait	25977	NECAP1	ORPHA:442835
HP:0002317	Unsteady gait	16	AARS1	ORPHA:442835
HP:0002317	Unsteady gait	6334	SCN8A	ORPHA:442835
HP:0002317	Unsteady gait	22866	CNKSR2	ORPHA:442835
HP:0002317	Unsteady gait	9568	GABBR2	ORPHA:442835
HP:0002317	Unsteady gait	2555	GABRA2	ORPHA:442835
HP:0002317	Unsteady gait	55152	DALRD3	ORPHA:442835
HP:0002317	Unsteady gait	773	CACNA1A	ORPHA:442835
HP:0002317	Unsteady gait	773	CACNA1A	ORPHA:98758
HP:0002317	Unsteady gait	26999	CYFIP2	ORPHA:442835
HP:0002317	Unsteady gait	4915	NTRK2	ORPHA:442835
HP:0002317	Unsteady gait	25973	PARS2	ORPHA:442835
HP:0002317	Unsteady gait	23097	CDK19	ORPHA:442835
HP:0002317	Unsteady gait	64801	ARV1	ORPHA:442835
HP:0002317	Unsteady gait	79947	DHDDS	ORPHA:442835
HP:0002317	Unsteady gait	2257	FGF12	ORPHA:442835
HP:0002317	Unsteady gait	950	SCARB2	OMIM:254900
HP:0002317	Unsteady gait	492	ATP2B3	ORPHA:314978
HP:0002317	Unsteady gait	492	ATP2B3	OMIM:302500
HP:0002317	Unsteady gait	4747	NEFL	ORPHA:101085
HP:0002317	Unsteady gait	4247	MGAT2	OMIM:212066
HP:0002317	Unsteady gait	9711	RUBCN	OMIM:615705
HP:0002317	Unsteady gait	121512	FGD4	OMIM:609311
HP:0002317	Unsteady gait	5376	PMP22	ORPHA:3115
HP:0002317	Unsteady gait	5376	PMP22	ORPHA:98916
HP:0002317	Unsteady gait	4359	MPZ	ORPHA:3115
HP:0002317	Unsteady gait	6611	SMS	ORPHA:3063
HP:0002317	Unsteady gait	113612	CYP2U1	OMIM:615030
HP:0002317	Unsteady gait	113612	CYP2U1	ORPHA:320411
HP:0002317	Unsteady gait	339983	NAT8L	OMIM:614063
HP:0002317	Unsteady gait	55697	VAC14	OMIM:617054
HP:0002317	Unsteady gait	10846	PDE10A	ORPHA:494526
HP:0002317	Unsteady gait	10846	PDE10A	OMIM:616921
HP:0002317	Unsteady gait	1387	CREBBP	OMIM:180849
HP:0002317	Unsteady gait	2033	EP300	OMIM:180849
HP:0002317	Unsteady gait	55280	CWF19L1	OMIM:616127
HP:0002317	Unsteady gait	55280	CWF19L1	ORPHA:453521
HP:0002317	Unsteady gait	3839	KPNA3	OMIM:620106
HP:0002317	Unsteady gait	5828	PEX2	OMIM:614867
HP:0002317	Unsteady gait	8659	ALDH4A1	ORPHA:79101
HP:0002317	Unsteady gait	724066	ATXN8	ORPHA:98760
HP:0002317	Unsteady gait	6315	ATXN8OS	ORPHA:98760
HP:0002317	Unsteady gait	25814	ATXN10	ORPHA:98761
HP:0002317	Unsteady gait	5521	PPP2R2B	ORPHA:98762
HP:0002317	Unsteady gait	8050	PDHX	OMIM:245349
HP:0002317	Unsteady gait	255928	SYT14	ORPHA:284271
HP:0002317	Unsteady gait	5058	PAK1	OMIM:618158
HP:0002317	Unsteady gait	7222	TRPC3	OMIM:616410
HP:0002317	Unsteady gait	22983	MAST1	OMIM:618273
HP:0002317	Unsteady gait	54870	QRICH1	OMIM:617982
HP:0002317	Unsteady gait	57688	ZSWIM6	OMIM:617865
HP:0002317	Unsteady gait	5192	PEX10	OMIM:614871
HP:0002317	Unsteady gait	9409	PEX16	OMIM:614877
HP:0002317	Unsteady gait	10531	PITRM1	OMIM:619405
HP:0002317	Unsteady gait	79971	WLS	OMIM:619648
HP:0002317	Unsteady gait	10522	DEAF1	ORPHA:468620
HP:0002317	Unsteady gait	23162	MAPK8IP3	OMIM:618443
HP:0002317	Unsteady gait	8913	CACNA1G	ORPHA:458803
HP:0002317	Unsteady gait	8913	CACNA1G	OMIM:616795
HP:0002317	Unsteady gait	6389	SDHA	OMIM:619259
HP:0002317	Unsteady gait	5528	PPP2R5D	ORPHA:457279
HP:0002317	Unsteady gait	7515	XRCC1	OMIM:617633
HP:0002317	Unsteady gait	1107	CHD3	OMIM:618205
HP:0002317	Unsteady gait	122622	ADSS1	ORPHA:482601
HP:0002317	Unsteady gait	1384	CRAT	OMIM:617917
HP:0002317	Unsteady gait	2055	CLN8	ORPHA:1947
HP:0002317	Unsteady gait	200403	VWA3B	OMIM:616948
HP:0002317	Unsteady gait	8139	GAN	ORPHA:643
HP:0002317	Unsteady gait	6513	SLC2A1	ORPHA:1942
HP:0002317	Unsteady gait	1173	AP2M1	ORPHA:1942
HP:0002317	Unsteady gait	6323	SCN1A	ORPHA:1942
HP:0002317	Unsteady gait	340533	NEXMIF	ORPHA:1942
HP:0002317	Unsteady gait	1106	CHD2	ORPHA:1942
HP:0002317	Unsteady gait	6529	SLC6A1	ORPHA:1942
HP:0002317	Unsteady gait	1967	EIF2B1	OMIM:603896
HP:0002317	Unsteady gait	1795	DOCK3	OMIM:618292
HP:0002317	Unsteady gait	84842	HPDL	OMIM:619027
HP:0002317	Unsteady gait	55690	PACS1	ORPHA:329224
HP:0002317	Unsteady gait	8449	DHX16	OMIM:618733
HP:0002317	Unsteady gait	4771	NF2	ORPHA:637
HP:0002317	Unsteady gait	4976	OPA1	OMIM:210000
HP:0002317	Unsteady gait	81790	RNF170	OMIM:608984
HP:0002318	Cervical myelopathy	2720	GLB1	OMIM:253010
HP:0002318	Cervical myelopathy	2131	EXT1	ORPHA:321
HP:0002318	Cervical myelopathy	2131	EXT1	OMIM:133700
HP:0002318	Cervical myelopathy	2132	EXT2	ORPHA:321
HP:0002318	Cervical myelopathy	2132	EXT2	OMIM:133701
HP:0002318	Cervical myelopathy	2588	GALNS	OMIM:253000
HP:0002318	Cervical myelopathy	64802	NMNAT1	OMIM:619260
HP:0002318	Cervical myelopathy	1280	COL2A1	OMIM:183900
HP:0002318	Cervical myelopathy	128240	NAXE	OMIM:617186
HP:0002318	Cervical myelopathy	411	ARSB	OMIM:253200
HP:0012530	Abnormal number of dense granules	84343	HPS3	OMIM:614072
HP:0012530	Abnormal number of dense granules	89781	HPS4	OMIM:614073
HP:0012530	Abnormal number of dense granules	11234	HPS5	OMIM:614074
HP:0012530	Abnormal number of dense granules	8546	AP3B1	OMIM:608233
HP:0012530	Abnormal number of dense granules	63915	BLOC1S5	OMIM:619172
HP:0012530	Abnormal number of dense granules	64376	IKZF5	OMIM:619130
HP:0012532	Chronic pain	1513	CTSK	ORPHA:763
HP:0012532	Chronic pain	4312	MMP1	ORPHA:79408
HP:0012532	Chronic pain	1294	COL7A1	ORPHA:79408
HP:0012532	Chronic pain	4287	ATXN3	OMIM:109150
HP:0012532	Chronic pain	7042	TGFB2	OMIM:614816
HP:0012532	Chronic pain	28982	FLVCR1	ORPHA:88628
HP:0012533	Allodynia	1890	TYMP	OMIM:603041
HP:0012533	Allodynia	5428	POLG	OMIM:603041
HP:0012534	Dysesthesia	5621	PRNP	ORPHA:356
HP:0012534	Dysesthesia	6389	SDHA	OMIM:619259
HP:0012534	Dysesthesia	6336	SCN10A	OMIM:615551
HP:0012534	Dysesthesia	114548	NLRP3	ORPHA:47045
HP:0012534	Dysesthesia	84504	NKX6-2	ORPHA:527497
HP:0012534	Dysesthesia	215	ABCD1	ORPHA:139399
HP:0012534	Dysesthesia	113189	CHST14	ORPHA:2953
HP:0012534	Dysesthesia	113189	CHST14	OMIM:601776
HP:0012534	Dysesthesia	29940	DSE	ORPHA:2953
HP:0012534	Dysesthesia	22943	DKK1	ORPHA:268882
HP:0012534	Dysesthesia	8659	ALDH4A1	ORPHA:79101
HP:0012534	Dysesthesia	27286	SRPX2	ORPHA:1945
HP:0012534	Dysesthesia	2903	GRIN2A	ORPHA:1945
HP:0012534	Dysesthesia	2566	GABRG2	ORPHA:1945
HP:0012534	Dysesthesia	2332	FMR1	ORPHA:93256
HP:0012534	Dysesthesia	9517	SPTLC2	OMIM:613640
HP:0012534	Dysesthesia	65998	ZFTA	ORPHA:251636
HP:0012534	Dysesthesia	5970	RELA	ORPHA:251636
HP:0012534	Dysesthesia	9409	PEX16	OMIM:614877
HP:0012534	Dysesthesia	5376	PMP22	ORPHA:98916
HP:0012535	Abnormal synaptic transmission	8292	COLQ	ORPHA:98915
HP:0012535	Abnormal synaptic transmission	3913	LAMB2	ORPHA:98915
HP:0012535	Abnormal synaptic transmission	1134	CHRNA1	OMIM:601462
HP:0012535	Abnormal synaptic transmission	5339	PLEC	ORPHA:257
HP:0012535	Abnormal synaptic transmission	34	ACADM	ORPHA:42
HP:0012535	Abnormal synaptic transmission	1145	CHRNE	OMIM:608931
HP:0012535	Abnormal synaptic transmission	1145	CHRNE	OMIM:605809
HP:0012535	Abnormal synaptic transmission	1144	CHRND	OMIM:616322
HP:0012535	Abnormal synaptic transmission	1103	CHAT	OMIM:254210
HP:0012535	Abnormal synaptic transmission	1103	CHAT	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	4593	MUSK	OMIM:616325
HP:0012535	Abnormal synaptic transmission	844	CASQ1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	84876	ORAI1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	6786	STIM1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	2767	GNA11	ORPHA:428
HP:0012535	Abnormal synaptic transmission	846	CASR	ORPHA:428
HP:0012535	Abnormal synaptic transmission	6261	RYR1	ORPHA:424107
HP:0012535	Abnormal synaptic transmission	60482	SLC5A7	OMIM:617143
HP:0012535	Abnormal synaptic transmission	60482	SLC5A7	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	10568	SLC34A2	ORPHA:60025
HP:0012535	Abnormal synaptic transmission	6329	SCN4A	OMIM:614198
HP:0012535	Abnormal synaptic transmission	6576	SLC25A1	OMIM:618197
HP:0012535	Abnormal synaptic transmission	6576	SLC25A1	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6616	SNAP25	OMIM:616330
HP:0012535	Abnormal synaptic transmission	6616	SNAP25	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	1140	CHRNB1	OMIM:616313
HP:0012535	Abnormal synaptic transmission	4649	MYO9A	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	1305	COL13A1	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6843	VAMP1	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	375790	AGRN	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	127833	SYT2	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6572	SLC18A3	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	28976	ACAD9	ORPHA:99901
HP:0012535	Abnormal synaptic transmission	285489	DOK7	OMIM:254300
HP:0012535	Abnormal synaptic transmission	390594	KBTBD13	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	57190	SELENON	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	4633	MYL2	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	3679	ITGA7	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	9200	HACD1	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	51776	MAP3K20	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	10755	GIPC1	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	100996717	NOTCH2NLC	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	55768	NGLY1	ORPHA:404454
HP:0012535	Abnormal synaptic transmission	4534	MTM1	ORPHA:596
HP:0012535	Abnormal synaptic transmission	22943	DKK1	ORPHA:268882
HP:0012535	Abnormal synaptic transmission	84334	COA8	ORPHA:436271
HP:0012535	Abnormal synaptic transmission	23175	LPIN1	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	4512	MT-CO1	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	4514	MT-CO3	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	50484	RRM2B	ORPHA:329336
HP:0012535	Abnormal synaptic transmission	246243	RNASEH1	ORPHA:329336
HP:0012535	Abnormal synaptic transmission	1674	DES	ORPHA:98909
HP:0012535	Abnormal synaptic transmission	779	CACNA1S	ORPHA:681
HP:0012535	Abnormal synaptic transmission	10008	KCNE3	ORPHA:681
HP:0012535	Abnormal synaptic transmission	25978	CHMP2B	ORPHA:803
HP:0012535	Abnormal synaptic transmission	3178	HNRNPA1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	8148	TAF15	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5445	PON2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9217	VAPB	ORPHA:803
HP:0012535	Abnormal synaptic transmission	8878	SQSTM1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5630	PRPH	ORPHA:803
HP:0012535	Abnormal synaptic transmission	29110	TBK1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	55830	GLT8D1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	755	CFAP410	ORPHA:803
HP:0012535	Abnormal synaptic transmission	10891	PPARGC1A	ORPHA:803
HP:0012535	Abnormal synaptic transmission	6647	SOD1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	10133	OPTN	ORPHA:803
HP:0012535	Abnormal synaptic transmission	1639	DCTN1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9896	FIG4	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5444	PON1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5446	PON3	ORPHA:803
HP:0012535	Abnormal synaptic transmission	4744	NEFH	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5216	PFN1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9782	MATR3	ORPHA:803
HP:0012535	Abnormal synaptic transmission	54209	TREM2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	7415	VCP	ORPHA:803
HP:0012535	Abnormal synaptic transmission	283	ANG	ORPHA:803
HP:0012535	Abnormal synaptic transmission	23435	TARDBP	ORPHA:803
HP:0012535	Abnormal synaptic transmission	29978	UBQLN2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2733	GLE1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2521	FUS	ORPHA:803
HP:0012535	Abnormal synaptic transmission	4750	NEK1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2043	EPHA4	ORPHA:803
HP:0012535	Abnormal synaptic transmission	6311	ATXN2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	1610	DAO	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2066	ERBB4	ORPHA:803
HP:0012535	Abnormal synaptic transmission	311	ANXA11	ORPHA:803
HP:0012535	Abnormal synaptic transmission	23025	UNC13A	ORPHA:803
HP:0012535	Abnormal synaptic transmission	899	CCNF	ORPHA:803
HP:0012535	Abnormal synaptic transmission	400916	CHCHD10	ORPHA:803
HP:0012535	Abnormal synaptic transmission	79147	FKRP	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	29954	POMT2	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	29954	POMT2	ORPHA:206559
HP:0012535	Abnormal synaptic transmission	9215	LARGE1	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	10585	POMT1	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	114034	TOE1	ORPHA:284339
HP:0012535	Abnormal synaptic transmission	9562	MINPP1	ORPHA:284339
HP:0012535	Abnormal synaptic transmission	11155	LDB3	ORPHA:98912
HP:0012535	Abnormal synaptic transmission	3094	HINT1	ORPHA:324442
HP:0012535	Abnormal synaptic transmission	4038	LRP4	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	5913	RAPSN	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	221264	AK9	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	51305	KCNK9	ORPHA:166108
HP:0012535	Abnormal synaptic transmission	10342	TFG	ORPHA:90117
HP:0012535	Abnormal synaptic transmission	2318	FLNC	ORPHA:63273
HP:0012535	Abnormal synaptic transmission	84196	USP48	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	7157	TP53	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	9101	USP8	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	64072	CDH23	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	2908	NR3C1	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	673	BRAF	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	546	ATRX	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	58	ACTA1	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	7169	TPM2	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	7169	TPM2	ORPHA:171881
HP:0012535	Abnormal synaptic transmission	4703	NEB	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	10324	KLHL41	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	56203	LMOD3	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	1073	CFL2	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	23345	SYNE1	ORPHA:319332
HP:0012535	Abnormal synaptic transmission	84665	MYPN	ORPHA:171881
HP:0012535	Abnormal synaptic transmission	7170	TPM3	ORPHA:171881
HP:0012535	Abnormal synaptic transmission	29925	GMPPB	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	2673	GFPT1	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	1798	DPAGT1	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	85365	ALG2	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	199857	ALG14	ORPHA:353327
HP:0012537	Food intolerance	79827	CLMP	OMIM:615237
HP:0012537	Food intolerance	2592	GALT	ORPHA:79239
HP:0012537	Food intolerance	10195	ALG3	OMIM:601110
HP:0012537	Food intolerance	171023	ASXL1	ORPHA:97297
HP:0012537	Food intolerance	55898	UNC45A	OMIM:619377
HP:0012537	Food intolerance	84342	COG8	ORPHA:95428
HP:0012537	Food intolerance	51085	MLXIPL	OMIM:194050
HP:0012537	Food intolerance	2006	ELN	OMIM:194050
HP:0012537	Food intolerance	10847	SRCAP	ORPHA:2044
HP:0012538	Gluten intolerance	10847	SRCAP	ORPHA:2044
HP:0012539	Non-Hodgkin lymphoma	2956	MSH6	OMIM:619097
HP:0012539	Non-Hodgkin lymphoma	5426	POLE	OMIM:618336
HP:0012539	Non-Hodgkin lymphoma	355	FAS	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	356	FASLG	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	5580	PRKCD	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	843	CASP10	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	10125	RASGRP1	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	4683	NBN	ORPHA:647
HP:0012539	Non-Hodgkin lymphoma	57217	TTC7A	OMIM:243150
HP:0012539	Non-Hodgkin lymphoma	4292	MLH1	OMIM:276300
HP:0012539	Non-Hodgkin lymphoma	6850	SYK	OMIM:619381
HP:0012539	Non-Hodgkin lymphoma	595	CCND1	ORPHA:52416
HP:0012539	Non-Hodgkin lymphoma	472	ATM	ORPHA:52416
HP:0012539	Non-Hodgkin lymphoma	3492	IGH	ORPHA:52416
HP:0012539	Non-Hodgkin lymphoma	3492	IGH	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	330	BIRC3	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	10892	MALT1	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	27086	FOXP1	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	8915	BCL10	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	84061	MAGT1	OMIM:300853
HP:0012539	Non-Hodgkin lymphoma	23149	FCHO1	OMIM:619164
HP:0012539	Non-Hodgkin lymphoma	3702	ITK	OMIM:613011
HP:0012539	Non-Hodgkin lymphoma	100	ADA	OMIM:102700
HP:0012539	Non-Hodgkin lymphoma	5788	PTPRC	OMIM:619924
HP:0012539	Non-Hodgkin lymphoma	5295	PIK3R1	OMIM:616005
HP:0012539	Non-Hodgkin lymphoma	22806	IKZF3	OMIM:619437
HP:0012539	Non-Hodgkin lymphoma	4773	NFATC2	OMIM:620232
HP:0012539	Non-Hodgkin lymphoma	1493	CTLA4	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	1493	CTLA4	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	940	CD28	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	940	CD28	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	50485	SMARCAL1	ORPHA:1830
HP:0012539	Non-Hodgkin lymphoma	7157	TP53	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	1029	CDKN2A	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	4193	MDM2	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	11200	CHEK2	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	4913	NTHL1	ORPHA:454840
HP:0012539	Non-Hodgkin lymphoma	5395	PMS2	OMIM:619101
HP:0012539	Non-Hodgkin lymphoma	399	RHOH	OMIM:618307
HP:0012539	Non-Hodgkin lymphoma	331	XIAP	OMIM:308240
HP:0012539	Non-Hodgkin lymphoma	4068	SH2D1A	OMIM:308240
HP:0012539	Non-Hodgkin lymphoma	4609	MYC	OMIM:113970
HP:0012539	Non-Hodgkin lymphoma	84868	HAVCR2	OMIM:618398
HP:0012531	Pain	229	ALDOB	OMIM:229600
HP:0012531	Pain	229	ALDOB	ORPHA:469
HP:0012531	Pain	8573	CASK	OMIM:300908
HP:0012531	Pain	2539	G6PD	OMIM:300908
HP:0012531	Pain	5009	OTC	OMIM:311250
HP:0012531	Pain	26873	OPLAH	OMIM:260005
HP:0012531	Pain	23417	MLYCD	OMIM:248360
HP:0012531	Pain	5314	PKHD1	ORPHA:53035
HP:0012531	Pain	2038	EPB42	ORPHA:822
HP:0012531	Pain	6521	SLC4A1	ORPHA:822
HP:0012531	Pain	6521	SLC4A1	ORPHA:3202
HP:0012531	Pain	6710	SPTB	ORPHA:822
HP:0012531	Pain	6710	SPTB	ORPHA:288
HP:0012531	Pain	6708	SPTA1	ORPHA:822
HP:0012531	Pain	6708	SPTA1	ORPHA:288
HP:0012531	Pain	286	ANK1	ORPHA:822
HP:0012531	Pain	4072	EPCAM	ORPHA:144
HP:0012531	Pain	4292	MLH1	ORPHA:144
HP:0012531	Pain	5395	PMS2	ORPHA:144
HP:0012531	Pain	27030	MLH3	ORPHA:144
HP:0012531	Pain	22909	FAN1	ORPHA:144
HP:0012531	Pain	7048	TGFBR2	ORPHA:144
HP:0012531	Pain	3845	KRAS	ORPHA:144
HP:0012531	Pain	3845	KRAS	ORPHA:1333
HP:0012531	Pain	2956	MSH6	ORPHA:144
HP:0012531	Pain	5378	PMS1	ORPHA:144
HP:0012531	Pain	4436	MSH2	ORPHA:144
HP:0012531	Pain	215	ABCD1	ORPHA:388
HP:0012531	Pain	5979	RET	ORPHA:388
HP:0012531	Pain	2668	GDNF	ORPHA:388
HP:0012531	Pain	1889	ECE1	ORPHA:388
HP:0012531	Pain	6720	SREBF1	ORPHA:388
HP:0012531	Pain	1908	EDN3	ORPHA:388
HP:0012531	Pain	1908	EDN3	ORPHA:897
HP:0012531	Pain	223117	SEMA3D	ORPHA:388
HP:0012531	Pain	538	ATP7A	ORPHA:388
HP:0012531	Pain	1910	EDNRB	ORPHA:388
HP:0012531	Pain	1910	EDNRB	ORPHA:897
HP:0012531	Pain	10512	SEMA3C	ORPHA:388
HP:0012531	Pain	2064	ERBB2	ORPHA:388
HP:0012531	Pain	2065	ERBB3	ORPHA:388
HP:0012531	Pain	4902	NRTN	ORPHA:388
HP:0012531	Pain	2130	EWSR1	ORPHA:83469
HP:0012531	Pain	7490	WT1	ORPHA:83469
HP:0012531	Pain	7490	WT1	ORPHA:654
HP:0012531	Pain	7490	WT1	ORPHA:656
HP:0012531	Pain	64218	SEMA4A	ORPHA:440437
HP:0012531	Pain	657	BMPR1A	ORPHA:440437
HP:0012531	Pain	657	BMPR1A	OMIM:174900
HP:0012531	Pain	657	BMPR1A	ORPHA:79076
HP:0012531	Pain	6224	RPS20	ORPHA:440437
HP:0012531	Pain	672	BRCA1	ORPHA:168829
HP:0012531	Pain	672	BRCA1	ORPHA:70567
HP:0012531	Pain	672	BRCA1	ORPHA:1333
HP:0012531	Pain	10686	CLDN16	OMIM:248250
HP:0012531	Pain	5498	PPOX	OMIM:176200
HP:0012531	Pain	5498	PPOX	ORPHA:79473
HP:0012531	Pain	3980	LIG3	ORPHA:298
HP:0012531	Pain	50484	RRM2B	ORPHA:298
HP:0012531	Pain	2642	GCGR	OMIM:619290
HP:0012531	Pain	2642	GCGR	ORPHA:438274
HP:0012531	Pain	2859	GPR35	ORPHA:171
HP:0012531	Pain	10507	SEMA4D	ORPHA:171
HP:0012531	Pain	4485	MST1	ORPHA:171
HP:0012531	Pain	4089	SMAD4	OMIM:174900
HP:0012531	Pain	4089	SMAD4	ORPHA:1333
HP:0012531	Pain	6794	STK11	OMIM:175200
HP:0012531	Pain	6794	STK11	ORPHA:2869
HP:0012531	Pain	2492	FSHR	OMIM:608115
HP:0012531	Pain	2492	FSHR	ORPHA:64739
HP:0012531	Pain	9570	GOSR2	OMIM:620166
HP:0012531	Pain	84133	ZNRF3	ORPHA:1501
HP:0012531	Pain	7157	TP53	ORPHA:1501
HP:0012531	Pain	7157	TP53	ORPHA:1333
HP:0012531	Pain	5573	PRKAR1A	ORPHA:1501
HP:0012531	Pain	5573	PRKAR1A	ORPHA:520
HP:0012531	Pain	1029	CDKN2A	ORPHA:1501
HP:0012531	Pain	1029	CDKN2A	ORPHA:1333
HP:0012531	Pain	2035	EPB41	ORPHA:288
HP:0012531	Pain	2995	GYPC	ORPHA:288
HP:0012531	Pain	5728	PTEN	ORPHA:79076
HP:0012531	Pain	2984	GUCY2C	OMIM:614616
HP:0012531	Pain	1244	ABCC2	ORPHA:234
HP:0012531	Pain	330	BIRC3	ORPHA:52417
HP:0012531	Pain	10892	MALT1	ORPHA:52417
HP:0012531	Pain	27086	FOXP1	ORPHA:52417
HP:0012531	Pain	3492	IGH	ORPHA:52417
HP:0012531	Pain	8915	BCL10	ORPHA:52417
HP:0012531	Pain	22900	CARD8	OMIM:619079
HP:0012531	Pain	2321	FLT1	ORPHA:275555
HP:0012531	Pain	219736	STOX1	ORPHA:275555
HP:0012531	Pain	10699	CORIN	ORPHA:275555
HP:0012531	Pain	8659	ALDH4A1	ORPHA:79101
HP:0012531	Pain	84992	PIGY	OMIM:616809
HP:0012531	Pain	1080	CFTR	OMIM:167800
HP:0012531	Pain	1080	CFTR	ORPHA:676
HP:0012531	Pain	5645	PRSS2	OMIM:167800
HP:0012531	Pain	5645	PRSS2	ORPHA:676
HP:0012531	Pain	5644	PRSS1	OMIM:167800
HP:0012531	Pain	5644	PRSS1	ORPHA:676
HP:0012531	Pain	5205	ATP8B1	ORPHA:69665
HP:0012531	Pain	8647	ABCB11	ORPHA:69665
HP:0012531	Pain	9971	NR1H4	ORPHA:69665
HP:0012531	Pain	6288	SAA1	ORPHA:85445
HP:0012531	Pain	11231	SEC63	ORPHA:2924
HP:0012531	Pain	5589	PRKCSH	ORPHA:2924
HP:0012531	Pain	2521	FUS	ORPHA:99967
HP:0012531	Pain	1649	DDIT3	ORPHA:99967
HP:0012531	Pain	19	ABCA1	ORPHA:31150
HP:0012531	Pain	7234	TRU-TCA1-1	OMIM:620198
HP:0012531	Pain	9968	MED12	OMIM:301068
HP:0012531	Pain	811	CALR	ORPHA:131
HP:0012531	Pain	2153	F5	ORPHA:131
HP:0012531	Pain	5885	RAD21	OMIM:611376
HP:0012531	Pain	11181	TREH	ORPHA:103909
HP:0012531	Pain	11181	TREH	OMIM:612119
HP:0012531	Pain	9780	PIEZO1	ORPHA:3202
HP:0012531	Pain	3783	KCNN4	ORPHA:3202
HP:0012531	Pain	710	SERPING1	OMIM:106100
HP:0012531	Pain	710	SERPING1	ORPHA:100050
HP:0012531	Pain	10312	TCIRG1	ORPHA:486
HP:0012531	Pain	1991	ELANE	ORPHA:486
HP:0012531	Pain	1991	ELANE	ORPHA:2686
HP:0012531	Pain	2672	GFI1	ORPHA:486
HP:0012531	Pain	6729	SRP54	ORPHA:486
HP:0012531	Pain	81570	CLPB	ORPHA:486
HP:0012531	Pain	2000	ELF4	OMIM:301074
HP:0012531	Pain	165918	RNF168	ORPHA:420741
HP:0012531	Pain	4594	MMUT	ORPHA:79312
HP:0012531	Pain	2629	GBA1	ORPHA:77259
HP:0012531	Pain	950	SCARB2	ORPHA:77259
HP:0012531	Pain	4175	MCM6	OMIM:223100
HP:0012531	Pain	846	CASR	ORPHA:428
HP:0012531	Pain	846	CASR	ORPHA:676
HP:0012531	Pain	1776	DNASE1L3	ORPHA:36412
HP:0012531	Pain	2258	FGF13	OMIM:301058
HP:0012531	Pain	4609	MYC	ORPHA:543
HP:0012531	Pain	23095	KIF1B	OMIM:256700
HP:0012531	Pain	675	BRCA2	ORPHA:70567
HP:0012531	Pain	675	BRCA2	ORPHA:654
HP:0012531	Pain	675	BRCA2	ORPHA:1333
HP:0012531	Pain	5774	PTPN3	ORPHA:70567
HP:0012531	Pain	7248	TSC1	ORPHA:538
HP:0012531	Pain	7249	TSC2	ORPHA:538
HP:0012531	Pain	4286	MITF	ORPHA:897
HP:0012531	Pain	6663	SOX10	ORPHA:897
HP:0012531	Pain	6663	SOX10	ORPHA:163746
HP:0012531	Pain	5978	REST	ORPHA:654
HP:0012531	Pain	129563	DIS3L2	ORPHA:654
HP:0012531	Pain	9319	TRIP13	ORPHA:654
HP:0012531	Pain	10155	TRIM28	ORPHA:654
HP:0012531	Pain	11281	POU6F2	ORPHA:654
HP:0012531	Pain	2719	GPC3	ORPHA:654
HP:0012531	Pain	283120	H19	ORPHA:654
HP:0012531	Pain	4868	NPHS1	ORPHA:656
HP:0012531	Pain	23607	CD2AP	ORPHA:656
HP:0012531	Pain	9688	NUP93	ORPHA:656
HP:0012531	Pain	4643	MYO1E	ORPHA:656
HP:0012531	Pain	64423	INF2	ORPHA:656
HP:0012531	Pain	26130	GAPVD1	ORPHA:656
HP:0012531	Pain	57122	NUP107	ORPHA:656
HP:0012531	Pain	51479	ANKFY1	ORPHA:656
HP:0012531	Pain	54443	ANLN	ORPHA:656
HP:0012531	Pain	5800	PTPRO	ORPHA:656
HP:0012531	Pain	286204	CRB2	ORPHA:656
HP:0012531	Pain	23165	NUP205	ORPHA:656
HP:0012531	Pain	2013	EMP2	ORPHA:656
HP:0012531	Pain	79023	NUP37	ORPHA:656
HP:0012531	Pain	51196	PLCE1	ORPHA:656
HP:0012531	Pain	79902	NUP85	ORPHA:656
HP:0012531	Pain	1285	COL4A3	ORPHA:656
HP:0012531	Pain	396	ARHGDIA	ORPHA:656
HP:0012531	Pain	79934	COQ8B	ORPHA:656
HP:0012531	Pain	23279	NUP160	ORPHA:656
HP:0012531	Pain	9863	MAGI2	ORPHA:656
HP:0012531	Pain	81	ACTN4	ORPHA:656
HP:0012531	Pain	7225	TRPC6	ORPHA:656
HP:0012531	Pain	8542	APOL1	ORPHA:656
HP:0012531	Pain	54885	TBC1D8B	ORPHA:656
HP:0012531	Pain	7827	NPHS2	ORPHA:656
HP:0012531	Pain	83478	ARHGAP24	ORPHA:656
HP:0012531	Pain	23500	DAAM2	ORPHA:656
HP:0012531	Pain	5076	PAX2	ORPHA:656
HP:0012531	Pain	55746	NUP133	ORPHA:656
HP:0012531	Pain	10320	IKZF1	ORPHA:36426
HP:0012531	Pain	10616	RBCK1	OMIM:615895
HP:0012531	Pain	1760	DMPK	ORPHA:589821
HP:0012531	Pain	285282	RABL3	ORPHA:1333
HP:0012531	Pain	79728	PALB2	ORPHA:1333
HP:0012531	Pain	23022	PALLD	ORPHA:1333
HP:0012531	Pain	1357	CPA1	ORPHA:676
HP:0012531	Pain	650	BMP2	OMIM:235200
HP:0012531	Pain	54795	TRPM4	ORPHA:871
HP:0012531	Pain	1482	NKX2-5	ORPHA:871
HP:0012531	Pain	6324	SCN1B	ORPHA:871
HP:0012531	Pain	6331	SCN5A	ORPHA:871
HP:0012531	Pain	6390	SDHB	ORPHA:97286
HP:0012531	Pain	6391	SDHC	ORPHA:97286
HP:0012531	Pain	6392	SDHD	ORPHA:97286
HP:0012531	Pain	1053	CEBPE	OMIM:260570
HP:0012531	Pain	64840	PORCN	ORPHA:2092
HP:0012531	Pain	6711	SPTBN1	OMIM:619475
HP:0012531	Pain	3257	HPS1	OMIM:203300
HP:0012531	Pain	1056	CEL	OMIM:609812
HP:0012531	Pain	64711	HS3ST6	OMIM:619367
HP:0012531	Pain	10585	POMT1	ORPHA:86812
HP:0012531	Pain	5294	PIK3CG	OMIM:619802
HP:0012531	Pain	3145	HMBS	OMIM:176000
HP:0012531	Pain	3145	HMBS	ORPHA:79276
HP:0012531	Pain	7428	VHL	ORPHA:892
HP:0012531	Pain	595	CCND1	ORPHA:892
HP:0012531	Pain	4221	MEN1	ORPHA:652
HP:0012531	Pain	1027	CDKN1B	ORPHA:652
HP:0012531	Pain	1026	CDKN1A	ORPHA:652
HP:0012531	Pain	1030	CDKN2B	ORPHA:652
HP:0012531	Pain	1031	CDKN2C	ORPHA:652
HP:0012531	Pain	55898	UNC45A	OMIM:619377
HP:0012531	Pain	72	ACTG2	OMIM:155310
HP:0012531	Pain	1371	CPOX	OMIM:121300
HP:0012531	Pain	1371	CPOX	ORPHA:79273
HP:0012531	Pain	6850	SYK	OMIM:619381
HP:0012531	Pain	6774	STAT3	ORPHA:520
HP:0012531	Pain	5371	PML	ORPHA:520
HP:0012531	Pain	5914	RARA	ORPHA:520
HP:0012531	Pain	81608	FIP1L1	ORPHA:520
HP:0012531	Pain	4869	NPM1	ORPHA:520
HP:0012531	Pain	54880	BCOR	ORPHA:520
HP:0012531	Pain	64859	NABP1	ORPHA:520
HP:0012531	Pain	6777	STAT5B	ORPHA:520
HP:0012531	Pain	4926	NUMA1	ORPHA:520
HP:0012531	Pain	7704	ZBTB16	ORPHA:520
HP:0012531	Pain	79718	TBL1XR1	ORPHA:520
HP:0012531	Pain	8737	RIPK1	OMIM:618852
HP:0012531	Pain	115286	SLC25A26	OMIM:616794
HP:0012531	Pain	4689	NCF4	OMIM:613960
HP:0012531	Pain	7388	UQCRH	OMIM:620137
HP:0012531	Pain	2693	GHSR	ORPHA:314811
HP:0012531	Pain	87178	PNPT1	ORPHA:101111
HP:0012531	Pain	10020	GNE	ORPHA:3166
HP:0012531	Pain	4023	LPL	OMIM:238600
HP:0012531	Pain	2099	ESR1	ORPHA:785
HP:0012531	Pain	56246	MRAP	ORPHA:361
HP:0012531	Pain	6770	STAR	ORPHA:361
HP:0012531	Pain	4158	MC2R	ORPHA:361
HP:0012531	Pain	23530	NNT	ORPHA:361
HP:0012531	Pain	10587	TXNRD2	ORPHA:361
HP:0012531	Pain	1616	DAXX	ORPHA:100075
HP:0012531	Pain	546	ATRX	ORPHA:100075
HP:0012531	Pain	3074	HEXB	OMIM:268800
HP:0012531	Pain	2313	FLI1	ORPHA:370348
HP:0012531	Pain	2161	F12	OMIM:610618
HP:0012531	Pain	7421	VDR	ORPHA:93160
HP:0012531	Pain	7421	VDR	OMIM:277440
HP:0012531	Pain	1186	CLCN7	ORPHA:667
HP:0012531	Pain	1186	CLCN7	ORPHA:53
HP:0012531	Pain	29887	SNX10	ORPHA:667
HP:0012531	Pain	8600	TNFSF11	ORPHA:667
HP:0012531	Pain	8792	TNFRSF11A	OMIM:174810
HP:0012531	Pain	8792	TNFRSF11A	OMIM:602080
HP:0012531	Pain	1184	CLCN5	OMIM:300009
HP:0012531	Pain	1184	CLCN5	OMIM:300554
HP:0012531	Pain	120227	CYP2R1	OMIM:600081
HP:0012531	Pain	120227	CYP2R1	ORPHA:289157
HP:0012531	Pain	3418	IDH2	ORPHA:296
HP:0012531	Pain	3418	IDH2	ORPHA:163634
HP:0012531	Pain	3417	IDH1	ORPHA:296
HP:0012531	Pain	3417	IDH1	ORPHA:163634
HP:0012531	Pain	5426	POLE	OMIM:615139
HP:0012531	Pain	1175	AP2S1	OMIM:600740
HP:0012531	Pain	1594	CYP27B1	OMIM:264700
HP:0012531	Pain	1594	CYP27B1	ORPHA:289157
HP:0012531	Pain	7010	TEK	ORPHA:1059
HP:0012531	Pain	7471	WNT1	ORPHA:85193
HP:0012531	Pain	89780	WNT3A	ORPHA:85193
HP:0012531	Pain	5660	PSAP	OMIM:610539
HP:0012531	Pain	1588	CYP19A1	ORPHA:91
HP:0012531	Pain	8074	FGF23	ORPHA:89937
HP:0012531	Pain	8074	FGF23	OMIM:193100
HP:0012531	Pain	142680	SLC34A3	OMIM:241530
HP:0012531	Pain	142680	SLC34A3	ORPHA:157215
HP:0012531	Pain	5781	PTPN11	ORPHA:2499
HP:0012531	Pain	189	AGXT	OMIM:259900
HP:0012531	Pain	5345	SERPINF2	ORPHA:79
HP:0012531	Pain	6569	SLC34A1	OMIM:613388
HP:0012531	Pain	6569	SLC34A1	ORPHA:3337
HP:0012531	Pain	6569	SLC34A1	ORPHA:157215
HP:0012531	Pain	1962	EHHADH	ORPHA:3337
HP:0012531	Pain	2628	GATM	ORPHA:3337
HP:0012531	Pain	137682	NDUFAF6	ORPHA:3337
HP:0012531	Pain	1758	DMP1	ORPHA:289176
HP:0012531	Pain	57592	ZNF687	OMIM:616833
HP:0012531	Pain	50964	SOST	OMIM:269500
HP:0012531	Pain	26191	PTPN22	ORPHA:397
HP:0012531	Pain	26191	PTPN22	ORPHA:85408
HP:0012531	Pain	26191	PTPN22	ORPHA:900
HP:0012531	Pain	26191	PTPN22	OMIM:180300
HP:0012531	Pain	3106	HLA-B	ORPHA:397
HP:0012531	Pain	3106	HLA-B	ORPHA:117
HP:0012531	Pain	3106	HLA-B	ORPHA:29207
HP:0012531	Pain	3106	HLA-B	ORPHA:3287
HP:0012531	Pain	3123	HLA-DRB1	ORPHA:397
HP:0012531	Pain	3123	HLA-DRB1	ORPHA:85414
HP:0012531	Pain	3123	HLA-DRB1	ORPHA:220393
HP:0012531	Pain	8974	P4HA2	ORPHA:397
HP:0012531	Pain	171023	ASXL1	ORPHA:98850
HP:0012531	Pain	171023	ASXL1	ORPHA:98849
HP:0012531	Pain	54790	TET2	ORPHA:98850
HP:0012531	Pain	54790	TET2	ORPHA:98849
HP:0012531	Pain	54790	TET2	ORPHA:729
HP:0012531	Pain	867	CBL	ORPHA:98850
HP:0012531	Pain	861	RUNX1	ORPHA:98850
HP:0012531	Pain	6427	SRSF2	ORPHA:98850
HP:0012531	Pain	6427	SRSF2	ORPHA:98849
HP:0012531	Pain	6399	TRAPPC2	ORPHA:93284
HP:0012531	Pain	6399	TRAPPC2	OMIM:313400
HP:0012531	Pain	90268	OTULIN	OMIM:617099
HP:0012531	Pain	144811	LACC1	ORPHA:85414
HP:0012531	Pain	4282	MIF	ORPHA:85414
HP:0012531	Pain	3569	IL6	ORPHA:85414
HP:0012531	Pain	30061	SLC40A1	ORPHA:139491
HP:0012531	Pain	30061	SLC40A1	OMIM:606069
HP:0012531	Pain	114548	NLRP3	OMIM:617772
HP:0012531	Pain	114548	NLRP3	ORPHA:47045
HP:0012531	Pain	114548	NLRP3	OMIM:191900
HP:0012531	Pain	114548	NLRP3	ORPHA:575
HP:0012531	Pain	114548	NLRP3	ORPHA:1451
HP:0012531	Pain	114548	NLRP3	OMIM:120100
HP:0012531	Pain	7148	TNXB	ORPHA:230839
HP:0012531	Pain	7148	TNXB	OMIM:606408
HP:0012531	Pain	4598	MVK	OMIM:260920
HP:0012531	Pain	4598	MVK	OMIM:610377
HP:0012531	Pain	4598	MVK	ORPHA:343
HP:0012531	Pain	3815	KIT	ORPHA:98849
HP:0012531	Pain	3248	HPGD	ORPHA:1525
HP:0012531	Pain	3248	HPGD	ORPHA:217059
HP:0012531	Pain	3248	HPGD	ORPHA:2796
HP:0012531	Pain	3248	HPGD	OMIM:259100
HP:0012531	Pain	54209	TREM2	OMIM:618193
HP:0012531	Pain	54209	TREM2	ORPHA:2770
HP:0012531	Pain	6775	STAT4	ORPHA:85408
HP:0012531	Pain	6775	STAT4	ORPHA:117
HP:0012531	Pain	6775	STAT4	ORPHA:93552
HP:0012531	Pain	3560	IL2RB	ORPHA:85408
HP:0012531	Pain	79722	ANKRD55	ORPHA:85408
HP:0012531	Pain	919	CD247	ORPHA:85408
HP:0012531	Pain	3559	IL2RA	ORPHA:85408
HP:0012531	Pain	5771	PTPN2	ORPHA:85408
HP:0012531	Pain	4210	MEFV	OMIM:249100
HP:0012531	Pain	4210	MEFV	ORPHA:3243
HP:0012531	Pain	4210	MEFV	ORPHA:342
HP:0012531	Pain	4210	MEFV	ORPHA:117
HP:0012531	Pain	4210	MEFV	ORPHA:329967
HP:0012531	Pain	4210	MEFV	OMIM:608068
HP:0012531	Pain	4210	MEFV	OMIM:134610
HP:0012531	Pain	1300	COL10A1	ORPHA:174
HP:0012531	Pain	84572	GNPTG	OMIM:252605
HP:0012531	Pain	1280	COL2A1	OMIM:616583
HP:0012531	Pain	1280	COL2A1	ORPHA:2380
HP:0012531	Pain	1280	COL2A1	ORPHA:90653
HP:0012531	Pain	1280	COL2A1	OMIM:108300
HP:0012531	Pain	1280	COL2A1	OMIM:604864
HP:0012531	Pain	1280	COL2A1	OMIM:609162
HP:0012531	Pain	1280	COL2A1	ORPHA:166100
HP:0012531	Pain	1280	COL2A1	OMIM:183900
HP:0012531	Pain	9469	CHST3	OMIM:143095
HP:0012531	Pain	9469	CHST3	ORPHA:263463
HP:0012531	Pain	4352	MPL	ORPHA:729
HP:0012531	Pain	3717	JAK2	ORPHA:729
HP:0012531	Pain	9927	MFN2	ORPHA:2398
HP:0012531	Pain	340061	STING1	OMIM:615934
HP:0012531	Pain	7132	TNFRSF1A	OMIM:142680
HP:0012531	Pain	7132	TNFRSF1A	ORPHA:329967
HP:0012531	Pain	7132	TNFRSF1A	ORPHA:32960
HP:0012531	Pain	84823	LMNB2	ORPHA:79087
HP:0012531	Pain	3117	HLA-DQA1	OMIM:212750
HP:0012531	Pain	3119	HLA-DQB1	OMIM:212750
HP:0012531	Pain	83550	GPR101	ORPHA:963
HP:0012531	Pain	83550	GPR101	OMIM:300942
HP:0012531	Pain	9049	AIP	ORPHA:963
HP:0012531	Pain	1277	COL1A1	ORPHA:287
HP:0012531	Pain	1289	COL5A1	ORPHA:287
HP:0012531	Pain	1290	COL5A2	ORPHA:287
HP:0012531	Pain	1302	COL11A2	OMIM:184840
HP:0012531	Pain	1302	COL11A2	OMIM:215150
HP:0012531	Pain	1302	COL11A2	ORPHA:166100
HP:0012531	Pain	1836	SLC26A2	OMIM:226900
HP:0012531	Pain	1836	SLC26A2	ORPHA:93307
HP:0012531	Pain	64127	NOD2	OMIM:617321
HP:0012531	Pain	64127	NOD2	ORPHA:90340
HP:0012531	Pain	58484	NLRC4	OMIM:616115
HP:0012531	Pain	58484	NLRC4	OMIM:616050
HP:0012531	Pain	2783	GNB2	OMIM:619503
HP:0012531	Pain	4853	NOTCH2	ORPHA:955
HP:0012531	Pain	5251	PHEX	ORPHA:89936
HP:0012531	Pain	5251	PHEX	OMIM:307800
HP:0012531	Pain	3043	HBB	ORPHA:231214
HP:0012531	Pain	3043	HBB	ORPHA:231226
HP:0012531	Pain	3043	HBB	ORPHA:251380
HP:0012531	Pain	51604	PIGT	OMIM:615399
HP:0012531	Pain	540	ATP7B	ORPHA:905
HP:0012531	Pain	6804	STX1A	ORPHA:904
HP:0012531	Pain	7461	CLIP2	ORPHA:904
HP:0012531	Pain	84277	DNAJC30	ORPHA:904
HP:0012531	Pain	8468	FKBP6	ORPHA:904
HP:0012531	Pain	5982	RFC2	ORPHA:904
HP:0012531	Pain	2969	GTF2I	ORPHA:904
HP:0012531	Pain	3984	LIMK1	ORPHA:904
HP:0012531	Pain	9569	GTF2IRD1	ORPHA:904
HP:0012531	Pain	155382	VPS37D	ORPHA:904
HP:0012531	Pain	155368	METTL27	ORPHA:904
HP:0012531	Pain	114049	BUD23	ORPHA:904
HP:0012531	Pain	7458	EIF4H	ORPHA:904
HP:0012531	Pain	84163	GTF2IRD2	ORPHA:904
HP:0012531	Pain	9275	BCL7B	ORPHA:904
HP:0012531	Pain	26608	TBL2	ORPHA:904
HP:0012531	Pain	653361	NCF1	ORPHA:904
HP:0012531	Pain	135886	TMEM270	ORPHA:904
HP:0012531	Pain	51085	MLXIPL	ORPHA:904
HP:0012531	Pain	9031	BAZ1B	ORPHA:904
HP:0012531	Pain	2006	ELN	ORPHA:904
HP:0012531	Pain	1493	CTLA4	ORPHA:900
HP:0012531	Pain	3115	HLA-DPB1	ORPHA:900
HP:0012531	Pain	5657	PRTN3	ORPHA:900
HP:0012531	Pain	3113	HLA-DPA1	ORPHA:900
HP:0012531	Pain	51284	TLR7	OMIM:301080
HP:0012531	Pain	1311	COMP	OMIM:177170
HP:0012531	Pain	1311	COMP	ORPHA:750
HP:0012531	Pain	715	C1R	OMIM:130080
HP:0012531	Pain	8838	CCN6	ORPHA:1159
HP:0012531	Pain	5336	PLCG2	OMIM:614878
HP:0012531	Pain	3662	IRF4	ORPHA:3452
HP:0012531	Pain	5692	PSMB4	OMIM:617591
HP:0012531	Pain	5698	PSMB9	OMIM:617591
HP:0012531	Pain	2157	F8	ORPHA:169805
HP:0012531	Pain	2157	F8	ORPHA:169802
HP:0012531	Pain	654	BMP6	ORPHA:465508
HP:0012531	Pain	654	BMP6	OMIM:620121
HP:0012531	Pain	3077	HFE	ORPHA:465508
HP:0012531	Pain	4087	SMAD2	OMIM:619656
HP:0012531	Pain	7415	VCP	ORPHA:329475
HP:0012531	Pain	100151683	RNU4ATAC	ORPHA:1824
HP:0012531	Pain	6583	SLC22A4	OMIM:180300
HP:0012531	Pain	4261	CIITA	OMIM:180300
HP:0012531	Pain	51744	CD244	OMIM:180300
HP:0012531	Pain	4795	NFKBIL1	OMIM:180300
HP:0012531	Pain	3586	IL10	OMIM:180300
HP:0012531	Pain	3586	IL10	ORPHA:117
HP:0012531	Pain	3514	IGKC	ORPHA:183675
HP:0012531	Pain	3501	IGHG2	ORPHA:183675
HP:0012531	Pain	64241	ABCG8	OMIM:210250
HP:0012531	Pain	64241	ABCG8	ORPHA:391665
HP:0012531	Pain	4313	MMP2	OMIM:259600
HP:0012531	Pain	3081	HGD	ORPHA:56
HP:0012531	Pain	3081	HGD	OMIM:203500
HP:0012531	Pain	10801	SEPTIN9	ORPHA:2901
HP:0012531	Pain	7227	TRPS1	OMIM:190350
HP:0012531	Pain	6307	MSMO1	OMIM:616834
HP:0012531	Pain	1188	CLCNKB	ORPHA:358
HP:0012531	Pain	6559	SLC12A3	ORPHA:358
HP:0012531	Pain	6559	SLC12A3	OMIM:263800
HP:0012531	Pain	2068	ERCC2	ORPHA:910
HP:0012531	Pain	7507	XPA	ORPHA:910
HP:0012531	Pain	2071	ERCC3	ORPHA:910
HP:0012531	Pain	7508	XPC	ORPHA:910
HP:0012531	Pain	1643	DDB2	ORPHA:910
HP:0012531	Pain	2072	ERCC4	ORPHA:910
HP:0012531	Pain	2073	ERCC5	ORPHA:910
HP:0012531	Pain	149233	IL23R	ORPHA:117
HP:0012531	Pain	1230	CCR1	ORPHA:117
HP:0012531	Pain	355	FAS	ORPHA:117
HP:0012531	Pain	3592	IL12A	ORPHA:117
HP:0012531	Pain	101928376	IL12A-AS1	ORPHA:117
HP:0012531	Pain	7099	TLR4	ORPHA:117
HP:0012531	Pain	3459	IFNGR1	ORPHA:117
HP:0012531	Pain	720	C4A	ORPHA:117
HP:0012531	Pain	337867	UBAC2	ORPHA:117
HP:0012531	Pain	51752	ERAP1	ORPHA:117
HP:0012531	Pain	8302	KLRC4	ORPHA:117
HP:0012531	Pain	9663	LPIN2	OMIM:609628
HP:0012531	Pain	9663	LPIN2	ORPHA:77297
HP:0012531	Pain	23592	LEMD3	ORPHA:166119
HP:0012531	Pain	23592	LEMD3	ORPHA:1306
HP:0012531	Pain	6696	SPP1	ORPHA:93552
HP:0012531	Pain	3654	IRAK1	ORPHA:93552
HP:0012531	Pain	2057	EPOR	ORPHA:90042
HP:0012531	Pain	411	ARSB	OMIM:253200
HP:0012531	Pain	53335	BCL11A	ORPHA:251380
HP:0012531	Pain	10661	KLF1	ORPHA:251380
HP:0012531	Pain	3047	HBG1	ORPHA:251380
HP:0012531	Pain	3048	HBG2	ORPHA:251380
HP:0012531	Pain	7317	UBA1	OMIM:301054
HP:0012531	Pain	4000	LMNA	ORPHA:90153
HP:0012531	Pain	10651	MTX2	ORPHA:90153
HP:0012531	Pain	3949	LDLR	ORPHA:391665
HP:0012531	Pain	255738	PCSK9	ORPHA:391665
HP:0012531	Pain	26119	LDLRAP1	ORPHA:391665
HP:0012531	Pain	338	APOB	ORPHA:391665
HP:0012531	Pain	64240	ABCG5	ORPHA:391665
HP:0012531	Pain	427	ASAH1	ORPHA:333
HP:0012531	Pain	427	ASAH1	OMIM:228000
HP:0012531	Pain	4621	MYH3	OMIM:193700
HP:0012531	Pain	3930	LBR	OMIM:613471
HP:0012531	Pain	29940	DSE	OMIM:615539
HP:0012531	Pain	2717	GLA	ORPHA:324
HP:0012531	Pain	6578	SLCO2A1	ORPHA:2796
HP:0012531	Pain	5745	PTH1R	ORPHA:79106
HP:0012531	Pain	1301	COL11A1	ORPHA:560
HP:0012531	Pain	23495	TNFRSF13B	ORPHA:1572
HP:0012531	Pain	4790	NFKB1	ORPHA:1572
HP:0012531	Pain	4791	NFKB2	ORPHA:1572
HP:0012531	Pain	115650	TNFRSF13C	ORPHA:1572
HP:0012531	Pain	8742	TNFSF12	ORPHA:1572
HP:0012531	Pain	5580	PRKCD	ORPHA:1572
HP:0012531	Pain	930	CD19	ORPHA:1572
HP:0012531	Pain	29851	ICOS	ORPHA:1572
HP:0012531	Pain	931	MS4A1	ORPHA:1572
HP:0012531	Pain	975	CD81	ORPHA:1572
HP:0012531	Pain	975	CD81	OMIM:613496
HP:0012531	Pain	359948	IRF2BP2	ORPHA:1572
HP:0012531	Pain	1499	CTNNB1	ORPHA:873
HP:0012531	Pain	324	APC	ORPHA:873
HP:0012531	Pain	6424	SFRP4	OMIM:265900
HP:0012531	Pain	716	C1S	OMIM:617174
HP:0012531	Pain	5167	ENPP1	ORPHA:51608
HP:0012531	Pain	368	ABCC6	ORPHA:51608
HP:0012531	Pain	55325	UFSP2	OMIM:617974
HP:0012531	Pain	91461	PKDCC	OMIM:618821
HP:0012531	Pain	7305	TYROBP	ORPHA:2770
HP:0012531	Pain	65992	DDRGK1	ORPHA:93352
HP:0012531	Pain	1314	COPA	OMIM:616414
HP:0012531	Pain	51816	ADA2	OMIM:615688
HP:0012531	Pain	3557	IL1RN	OMIM:612852
HP:0012531	Pain	4148	MATN3	OMIM:607078
HP:0012531	Pain	50515	CHST11	OMIM:618167
HP:0012531	Pain	51371	POMP	OMIM:618048
HP:0012531	Pain	3593	IL12B	ORPHA:3287
HP:0012531	Pain	6945	MLX	ORPHA:3287
HP:0012531	Pain	11277	TREX1	OMIM:610448
HP:0012531	Pain	6609	SMPD1	OMIM:607616
HP:0012531	Pain	1604	CD55	OMIM:226300
HP:0012531	Pain	118429	ANTXR2	OMIM:228600
HP:0012531	Pain	2512	FTL	ORPHA:254704
HP:0012531	Pain	9051	PSTPIP1	ORPHA:69126
HP:0012531	Pain	1297	COL9A1	OMIM:614135
HP:0012531	Pain	1235	CCR6	ORPHA:220393
HP:0012531	Pain	1490	CCN2	ORPHA:220393
HP:0012531	Pain	3663	IRF5	ORPHA:220393
HP:0012531	Pain	857	CAV1	ORPHA:220393
HP:0012531	Pain	9935	MAFB	OMIM:166300
HP:0012531	Pain	5696	PSMB8	OMIM:256040
HP:0012531	Pain	54829	ASPN	OMIM:607850
HP:0012531	Pain	4982	TNFRSF11B	ORPHA:1416
HP:0012531	Pain	56172	ANKH	ORPHA:1416
HP:0012531	Pain	374654	KIF7	ORPHA:166024
HP:0012531	Pain	246243	RNASEH1	ORPHA:329336
HP:0012531	Pain	246243	RNASEH1	OMIM:616479
HP:0012531	Pain	60684	TRAPPC11	OMIM:615356
HP:0012531	Pain	60684	TRAPPC11	ORPHA:369840
HP:0012531	Pain	60684	TRAPPC11	ORPHA:369847
HP:0012531	Pain	6840	SVIL	OMIM:619040
HP:0012531	Pain	1763	DNA2	ORPHA:352470
HP:0012531	Pain	1763	DNA2	OMIM:615156
HP:0012531	Pain	729920	CRPPA	ORPHA:352479
HP:0012531	Pain	729920	CRPPA	ORPHA:370980
HP:0012531	Pain	79147	FKRP	OMIM:607155
HP:0012531	Pain	79147	FKRP	OMIM:606612
HP:0012531	Pain	79147	FKRP	ORPHA:370980
HP:0012531	Pain	55034	MOCOS	OMIM:603592
HP:0012531	Pain	1340	COX6B1	OMIM:619051
HP:0012531	Pain	55154	MSTO1	OMIM:617675
HP:0012531	Pain	55154	MSTO1	ORPHA:502423
HP:0012531	Pain	9692	PRORP	OMIM:619737
HP:0012531	Pain	1716	DGUOK	ORPHA:329314
HP:0012531	Pain	5468	PPARG	ORPHA:79083
HP:0012531	Pain	9499	MYOT	OMIM:609200
HP:0012531	Pain	2332	FMR1	ORPHA:93256
HP:0012531	Pain	2332	FMR1	OMIM:300623
HP:0012531	Pain	11107	PRDM5	OMIM:614170
HP:0012531	Pain	11107	PRDM5	ORPHA:90354
HP:0012531	Pain	844	CASQ1	OMIM:616231
HP:0012531	Pain	844	CASQ1	ORPHA:2593
HP:0012531	Pain	11232	POLG2	OMIM:610131
HP:0012531	Pain	11232	POLG2	ORPHA:254892
HP:0012531	Pain	28976	ACAD9	ORPHA:99901
HP:0012531	Pain	54	ACP5	ORPHA:1855
HP:0012531	Pain	1180	CLCN1	OMIM:255700
HP:0012531	Pain	1180	CLCN1	OMIM:160800
HP:0012531	Pain	4567	MT-TL1	ORPHA:225
HP:0012531	Pain	4556	MT-TE	ORPHA:225
HP:0012531	Pain	4556	MT-TE	ORPHA:2596
HP:0012531	Pain	23175	LPIN1	OMIM:268200
HP:0012531	Pain	11149	BVES	OMIM:616812
HP:0012531	Pain	11128	POLR3A	ORPHA:3455
HP:0012531	Pain	84627	ZNF469	ORPHA:90354
HP:0012531	Pain	270	AMPD1	ORPHA:45
HP:0012531	Pain	272	AMPD3	ORPHA:45
HP:0012531	Pain	487	ATP2A1	OMIM:601003
HP:0012531	Pain	5213	PFKM	OMIM:232800
HP:0012531	Pain	84876	ORAI1	ORPHA:2593
HP:0012531	Pain	6786	STIM1	ORPHA:2593
HP:0012531	Pain	6786	STIM1	OMIM:185070
HP:0012531	Pain	3339	HSPG2	ORPHA:800
HP:0012531	Pain	226	ALDOA	ORPHA:57
HP:0012531	Pain	5256	PHKA2	ORPHA:264580
HP:0012531	Pain	5261	PHKG2	ORPHA:264580
HP:0012531	Pain	1376	CPT2	OMIM:255110
HP:0012531	Pain	1376	CPT2	ORPHA:228302
HP:0012531	Pain	1376	CPT2	ORPHA:228305
HP:0012531	Pain	284119	CAVIN1	OMIM:613327
HP:0012531	Pain	8291	DYSF	ORPHA:45448
HP:0012531	Pain	4001	LMNB1	ORPHA:99027
HP:0012531	Pain	291	SLC25A4	ORPHA:254892
HP:0012531	Pain	291	SLC25A4	OMIM:615418
HP:0012531	Pain	56652	TWNK	ORPHA:254892
HP:0012531	Pain	56652	TWNK	OMIM:609286
HP:0012531	Pain	5888	RAD51	ORPHA:238722
HP:0012531	Pain	10126	DNAL4	ORPHA:238722
HP:0012531	Pain	9423	NTN1	ORPHA:238722
HP:0012531	Pain	1630	DCC	ORPHA:238722
HP:0012531	Pain	5156	PDGFRA	OMIM:607685
HP:0012531	Pain	10049	DNAJB6	OMIM:603511
HP:0012531	Pain	7555	CNBP	OMIM:602668
HP:0012531	Pain	3939	LDHA	OMIM:612933
HP:0012531	Pain	2027	ENO3	OMIM:612932
HP:0012531	Pain	10059	DNM1L	ORPHA:98673
HP:0012531	Pain	4976	OPA1	ORPHA:98673
HP:0012531	Pain	7084	TK2	ORPHA:254875
HP:0012531	Pain	51116	MRPS2	OMIM:617950
HP:0012531	Pain	64856	VWA1	OMIM:619216
HP:0012531	Pain	825	CAPN3	OMIM:618129
HP:0012531	Pain	5257	PHKB	ORPHA:79240
HP:0012531	Pain	1312	COMT	ORPHA:567
HP:0012531	Pain	221037	JMJD1C	ORPHA:567
HP:0012531	Pain	2812	GP1BB	ORPHA:567
HP:0012531	Pain	6239	RREB1	ORPHA:567
HP:0012531	Pain	6899	TBX1	ORPHA:567
HP:0012531	Pain	7290	HIRA	ORPHA:567
HP:0012531	Pain	9632	SEC24C	ORPHA:567
HP:0012531	Pain	7353	UFD1	ORPHA:567
HP:0012531	Pain	421	ARVCF	ORPHA:567
HP:0012531	Pain	4547	MTTP	ORPHA:14
HP:0012531	Pain	55863	TMEM126B	OMIM:618250
HP:0012531	Pain	112812	FDX2	OMIM:251900
HP:0012531	Pain	2218	FKTN	ORPHA:370980
HP:0012531	Pain	1756	DMD	ORPHA:98895
HP:0012531	Pain	1756	DMD	OMIM:300376
HP:0012531	Pain	1756	DMD	ORPHA:206546
HP:0012531	Pain	3032	HADHB	ORPHA:746
HP:0012531	Pain	3030	HADHA	ORPHA:746
HP:0012531	Pain	3030	HADHA	OMIM:609015
HP:0012531	Pain	4194	MDM4	OMIM:618849
HP:0012531	Pain	124093	CCDC78	OMIM:614807
HP:0012531	Pain	84842	HPDL	OMIM:619027
HP:0012531	Pain	125170	MIEF2	OMIM:619024
HP:0012531	Pain	203859	ANO5	OMIM:611307
HP:0012531	Pain	203859	ANO5	ORPHA:206549
HP:0012531	Pain	9842	PLEKHM1	ORPHA:210110
HP:0012531	Pain	84265	POLR3GL	OMIM:619234
HP:0012531	Pain	579	NKX3-2	OMIM:613330
HP:0012531	Pain	56606	SLC2A9	ORPHA:94088
HP:0012531	Pain	116085	SLC22A12	ORPHA:94088
HP:0012531	Pain	10683	DLL3	OMIM:277300
HP:0012531	Pain	145873	MESP2	OMIM:277300
HP:0012531	Pain	2273	FHL1	OMIM:300696
HP:0012531	Pain	2273	FHL1	ORPHA:98863
HP:0012531	Pain	2010	EMD	ORPHA:98863
HP:0012531	Pain	81839	VANGL1	OMIM:600145
HP:0012531	Pain	23345	SYNE1	ORPHA:98853
HP:0012531	Pain	23224	SYNE2	ORPHA:98853
HP:0012531	Pain	9897	WASHC5	OMIM:603563
HP:0012531	Pain	4665	NAB2	ORPHA:2126
HP:0012531	Pain	6778	STAT6	ORPHA:2126
HP:0012531	Pain	6683	SPAST	OMIM:182601
HP:0012531	Pain	7486	WRN	OMIM:277700
HP:0012531	Pain	4803	NGF	OMIM:608654
HP:0012531	Pain	6911	TBX6	OMIM:122600
HP:0012531	Pain	34	ACADM	ORPHA:42
HP:0012531	Pain	5255	PHKA1	OMIM:300559
HP:0012531	Pain	6261	RYR1	OMIM:255320
HP:0012531	Pain	6261	RYR1	ORPHA:169189
HP:0012531	Pain	6261	RYR1	OMIM:619542
HP:0012531	Pain	22954	TRIM32	OMIM:254110
HP:0012531	Pain	2318	FLNC	ORPHA:63273
HP:0012531	Pain	5837	PYGM	OMIM:232600
HP:0012531	Pain	5837	PYGM	ORPHA:368
HP:0012531	Pain	274	BIN1	ORPHA:169189
HP:0012531	Pain	64419	MTMR14	ORPHA:169189
HP:0012531	Pain	4618	MYF6	ORPHA:169189
HP:0012531	Pain	1785	DNM2	ORPHA:169189
HP:0012531	Pain	5224	PGAM2	OMIM:261670
HP:0012531	Pain	90523	MLIP	OMIM:620138
HP:0012531	Pain	284439	SLC25A42	OMIM:618416
HP:0012531	Pain	4512	MT-CO1	ORPHA:99845
HP:0012531	Pain	4514	MT-CO3	ORPHA:99845
HP:0012531	Pain	5230	PGK1	ORPHA:713
HP:0012531	Pain	10861	SLC26A1	OMIM:620372
HP:0012531	Pain	7040	TGFB1	OMIM:131300
HP:0012531	Pain	8575	PRKRA	OMIM:612067
HP:0012531	Pain	2335	FN1	ORPHA:93315
HP:0012531	Pain	10558	SPTLC1	ORPHA:36386
HP:0012531	Pain	25923	ATL3	ORPHA:36386
HP:0012531	Pain	9517	SPTLC2	ORPHA:36386
HP:0012531	Pain	51062	ATL1	ORPHA:36386
HP:0012531	Pain	8694	DGAT1	OMIM:615863
HP:0012531	Pain	210	ALAD	OMIM:612740
HP:0012531	Pain	5244	ABCB4	ORPHA:69663
HP:0012531	Pain	6476	SI	ORPHA:35122
HP:0012531	Pain	353	APRT	ORPHA:976
HP:0012531	Pain	4508	MT-ATP6	ORPHA:320360
HP:0012531	Pain	84188	FAR1	ORPHA:447753
HP:0012531	Pain	5832	ALDH18A1	ORPHA:447753
HP:0012531	Pain	6687	SPG7	ORPHA:99013
HP:0012531	Pain	10613	ERLIN1	ORPHA:401785
HP:0012531	Pain	4669	NAGLU	OMIM:616491
HP:0012531	Pain	341208	HEPHL1	OMIM:261990
HP:0012531	Pain	55768	NGLY1	OMIM:615273
HP:0012531	Pain	80207	OPA3	ORPHA:67036
HP:0012531	Pain	11280	SCN11A	OMIM:615552
HP:0012531	Pain	83706	FERMT3	OMIM:612840
HP:0012531	Pain	4035	LRP1	ORPHA:79100
HP:0012531	Pain	5925	RB1	ORPHA:668
HP:0012531	Pain	11200	CHEK2	ORPHA:668
HP:0012531	Pain	7373	COL14A1	ORPHA:79501
HP:0012531	Pain	79719	AAGAB	ORPHA:79501
HP:0012531	Pain	4311	MME	ORPHA:497764
HP:0012531	Pain	79587	CARS2	ORPHA:477774
HP:0012531	Pain	10229	COQ7	OMIM:616733
HP:0012531	Pain	3035	HARS1	ORPHA:488333
HP:0012531	Pain	2304	FOXE1	ORPHA:319487
HP:0012531	Pain	3026	HABP2	ORPHA:319487
HP:0012531	Pain	9562	MINPP1	ORPHA:319487
HP:0012531	Pain	51726	DNAJB11	ORPHA:730
HP:0012531	Pain	23193	GANAB	ORPHA:730
HP:0012531	Pain	5310	PKD1	ORPHA:730
HP:0012531	Pain	5311	PKD2	ORPHA:730
HP:0012531	Pain	29880	ALG5	ORPHA:730
HP:0012531	Pain	9742	IFT140	ORPHA:730
HP:0012531	Pain	79796	ALG9	ORPHA:730
HP:0012531	Pain	80114	BICC1	ORPHA:730
HP:0012531	Pain	9630	GNA14	ORPHA:1063
HP:0012531	Pain	339855	KY	ORPHA:496689
HP:0012531	Pain	847	CAT	ORPHA:926
HP:0012531	Pain	25978	CHMP2B	ORPHA:803
HP:0012531	Pain	8148	TAF15	ORPHA:803
HP:0012531	Pain	5445	PON2	ORPHA:803
HP:0012531	Pain	9217	VAPB	ORPHA:803
HP:0012531	Pain	8878	SQSTM1	ORPHA:803
HP:0012531	Pain	5630	PRPH	ORPHA:803
HP:0012531	Pain	29110	TBK1	ORPHA:803
HP:0012531	Pain	55830	GLT8D1	ORPHA:803
HP:0012531	Pain	755	CFAP410	ORPHA:803
HP:0012531	Pain	10891	PPARGC1A	ORPHA:803
HP:0012531	Pain	6647	SOD1	ORPHA:803
HP:0012531	Pain	10133	OPTN	ORPHA:803
HP:0012531	Pain	1639	DCTN1	ORPHA:803
HP:0012531	Pain	9896	FIG4	ORPHA:803
HP:0012531	Pain	5444	PON1	ORPHA:803
HP:0012531	Pain	5446	PON3	ORPHA:803
HP:0012531	Pain	4744	NEFH	ORPHA:803
HP:0012531	Pain	5216	PFN1	ORPHA:803
HP:0012531	Pain	9782	MATR3	ORPHA:803
HP:0012531	Pain	283	ANG	ORPHA:803
HP:0012531	Pain	23435	TARDBP	ORPHA:803
HP:0012531	Pain	29978	UBQLN2	ORPHA:803
HP:0012531	Pain	2733	GLE1	ORPHA:803
HP:0012531	Pain	4750	NEK1	ORPHA:803
HP:0012531	Pain	2043	EPHA4	ORPHA:803
HP:0012531	Pain	6311	ATXN2	ORPHA:803
HP:0012531	Pain	1610	DAO	ORPHA:803
HP:0012531	Pain	2066	ERBB4	ORPHA:803
HP:0012531	Pain	311	ANXA11	ORPHA:803
HP:0012531	Pain	23025	UNC13A	ORPHA:803
HP:0012531	Pain	899	CCNF	ORPHA:803
HP:0012531	Pain	8131	NPRL3	ORPHA:98820
HP:0012531	Pain	10641	NPRL2	ORPHA:98820
HP:0012531	Pain	9681	DEPDC5	ORPHA:98820
HP:0012531	Pain	37	ACADVL	ORPHA:26793
HP:0012531	Pain	51308	REEP2	ORPHA:401849
HP:0012531	Pain	65998	ZFTA	ORPHA:251636
HP:0012531	Pain	5970	RELA	ORPHA:251636
HP:0012531	Pain	4763	NF1	ORPHA:97685
HP:0012531	Pain	112817	HOGA1	ORPHA:93600
HP:0012531	Pain	1513	CTSK	ORPHA:763
HP:0012531	Pain	4312	MMP1	ORPHA:79408
HP:0012531	Pain	1294	COL7A1	ORPHA:79408
HP:0012531	Pain	4287	ATXN3	OMIM:109150
HP:0012531	Pain	7042	TGFB2	OMIM:614816
HP:0012531	Pain	28982	FLVCR1	ORPHA:88628
HP:0012531	Pain	1890	TYMP	OMIM:603041
HP:0012531	Pain	5428	POLG	OMIM:603041
HP:0012531	Pain	3852	KRT5	ORPHA:79400
HP:0012531	Pain	3861	KRT14	ORPHA:79400
HP:0012531	Pain	9096	TBX18	OMIM:143400
HP:0012531	Pain	3868	KRT16	ORPHA:2309
HP:0012531	Pain	3872	KRT17	ORPHA:2309
HP:0012531	Pain	3853	KRT6A	ORPHA:2309
HP:0012531	Pain	3854	KRT6B	ORPHA:2309
HP:0012531	Pain	4914	NTRK1	ORPHA:642
HP:0012531	Pain	5654	HTRA1	ORPHA:199354
HP:0012531	Pain	22943	DKK1	ORPHA:268882
HP:0012531	Pain	5921	RASA1	ORPHA:90307
HP:0012531	Pain	5376	PMP22	ORPHA:101081
HP:0012531	Pain	10269	ZMPSTE24	ORPHA:740
HP:0012531	Pain	59341	TRPV4	ORPHA:86820
HP:0012531	Pain	3178	HNRNPA1	ORPHA:52430
HP:0012531	Pain	3181	HNRNPA2B1	ORPHA:52430
HP:0012531	Pain	10804	GJB6	ORPHA:477
HP:0012531	Pain	2706	GJB2	ORPHA:477
HP:0012531	Pain	4010	LMX1B	ORPHA:2614
HP:0012531	Pain	4796	TONSL	ORPHA:93357
HP:0012531	Pain	1298	COL9A2	OMIM:600204
HP:0012531	Pain	1298	COL9A2	ORPHA:166002
HP:0012531	Pain	26580	BSCL2	ORPHA:100998
HP:0012531	Pain	1299	COL9A3	OMIM:600969
HP:0012531	Pain	1299	COL9A3	ORPHA:166002
HP:0012531	Pain	4322	MMP13	OMIM:250400
HP:0012531	Pain	567	B2M	ORPHA:314652
HP:0012531	Pain	3373	HYAL1	OMIM:601492
HP:0012531	Pain	6935	ZEB1	ORPHA:98974
HP:0012531	Pain	123624	AGBL1	ORPHA:98974
HP:0012531	Pain	6925	TCF4	ORPHA:98974
HP:0012531	Pain	83959	SLC4A11	ORPHA:98974
HP:0012531	Pain	1296	COL8A2	ORPHA:98974
HP:0012531	Pain	400916	CHCHD10	ORPHA:276435
HP:0012531	Pain	57104	PNPLA2	ORPHA:565612
HP:0012531	Pain	1288	COL4A6	ORPHA:1018
HP:0012531	Pain	1287	COL4A5	ORPHA:1018
HP:0012531	Pain	8989	TRPA1	OMIM:615040
HP:0012531	Pain	2131	EXT1	ORPHA:321
HP:0012531	Pain	2132	EXT2	ORPHA:321
HP:0012531	Pain	91662	NLRP12	OMIM:611762
HP:0012531	Pain	1380	CR2	OMIM:614699
HP:0012531	Pain	3425	IDUA	OMIM:607015
HP:0012531	Pain	5621	PRNP	ORPHA:282166
HP:0012531	Pain	79628	SH3TC2	ORPHA:99949
HP:0012531	Pain	4771	NF2	ORPHA:2495
HP:0012531	Pain	6598	SMARCB1	ORPHA:2495
HP:0012531	Pain	5155	PDGFB	ORPHA:2495
HP:0012531	Pain	84231	TRAF7	ORPHA:2495
HP:0012531	Pain	6608	SMO	ORPHA:2495
HP:0012531	Pain	207	AKT1	ORPHA:2495
HP:0012531	Pain	5290	PIK3CA	ORPHA:2495
HP:0012531	Pain	7015	TERT	ORPHA:2495
HP:0012531	Pain	51684	SUFU	ORPHA:2495
HP:0012531	Pain	6605	SMARCE1	ORPHA:2495
HP:0012531	Pain	7066	THPO	ORPHA:71493
HP:0012531	Pain	4625	MYH7	ORPHA:1880
HP:0012531	Pain	2778	GNAS	ORPHA:94089
HP:0012531	Pain	2778	GNAS	ORPHA:79443
HP:0012531	Pain	2778	GNAS	ORPHA:79444
HP:0012531	Pain	8675	STX16	ORPHA:94089
HP:0012531	Pain	1829	DSG2	OMIM:610193
HP:0012531	Pain	70	ACTC1	OMIM:612098
HP:0012531	Pain	9244	CRLF1	ORPHA:930
HP:0012531	Pain	4842	NOS1	ORPHA:930
HP:0012531	Pain	1281	COL3A1	OMIM:130050
HP:0012531	Pain	2022	ENG	OMIM:187300
HP:0012531	Pain	4633	MYL2	OMIM:608758
HP:0012531	Pain	56244	BTNL2	OMIM:612387
HP:0012531	Pain	56244	BTNL2	ORPHA:797
HP:0012531	Pain	1000	CDH2	OMIM:618920
HP:0012531	Pain	5350	PLN	OMIM:613874
HP:0012531	Pain	1788	DNMT3A	ORPHA:276621
HP:0012531	Pain	2034	EPAS1	ORPHA:276621
HP:0012531	Pain	4566	MT-TK	ORPHA:1349
HP:0012531	Pain	5277	PIGA	ORPHA:447
HP:0012531	Pain	6329	SCN4A	ORPHA:682
HP:0012531	Pain	6329	SCN4A	ORPHA:99735
HP:0012531	Pain	6329	SCN4A	ORPHA:99736
HP:0012531	Pain	7134	TNNC1	OMIM:613243
HP:0012531	Pain	1621	DBH	ORPHA:230
HP:0012531	Pain	4607	MYBPC3	OMIM:115197
HP:0012531	Pain	51422	PRKAG2	OMIM:600858
HP:0012531	Pain	6340	SCNN1G	ORPHA:60033
HP:0012531	Pain	6337	SCNN1A	ORPHA:60033
HP:0012531	Pain	6338	SCNN1B	ORPHA:60033
HP:0012531	Pain	1743	DLST	ORPHA:29072
HP:0012531	Pain	4191	MDH2	ORPHA:29072
HP:0012531	Pain	6389	SDHA	ORPHA:29072
HP:0012531	Pain	2271	FH	ORPHA:29072
HP:0012531	Pain	8402	SLC25A11	ORPHA:29072
HP:0012531	Pain	54949	SDHAF2	ORPHA:29072
HP:0012531	Pain	55654	TMEM127	ORPHA:29072
HP:0012531	Pain	4149	MAX	ORPHA:29072
HP:0012531	Pain	7454	WAS	ORPHA:906
HP:0012531	Pain	7456	WIPF1	ORPHA:906
HP:0012531	Pain	6049	RNF6	ORPHA:99977
HP:0012531	Pain	51741	WWOX	ORPHA:99977
HP:0012531	Pain	9940	DLEC1	ORPHA:99977
HP:0012531	Pain	4629	MYH11	ORPHA:229
HP:0012531	Pain	4629	MYH11	ORPHA:91387
HP:0012531	Pain	171019	ADAMTS19	OMIM:620067
HP:0012531	Pain	79188	TMEM43	OMIM:604400
HP:0012531	Pain	27068	PPA2	OMIM:617223
HP:0012531	Pain	4205	MEF2A	OMIM:608320
HP:0012531	Pain	859	CAV3	OMIM:611818
HP:0012531	Pain	10568	SLC34A2	ORPHA:60025
HP:0012531	Pain	54344	DPM3	ORPHA:263494
HP:0012531	Pain	10019	SH2B3	ORPHA:3318
HP:0012531	Pain	7046	TGFBR1	ORPHA:91387
HP:0012531	Pain	4015	LOX	ORPHA:91387
HP:0012531	Pain	7043	TGFB3	ORPHA:91387
HP:0012531	Pain	4088	SMAD3	ORPHA:91387
HP:0012531	Pain	2200	FBN1	ORPHA:91387
HP:0012531	Pain	59	ACTA2	ORPHA:91387
HP:0012531	Pain	5592	PRKG1	ORPHA:91387
HP:0012531	Pain	2301	FOXE3	ORPHA:91387
HP:0012531	Pain	4144	MAT2A	ORPHA:91387
HP:0012531	Pain	23493	HEY2	ORPHA:91387
HP:0012531	Pain	8076	MFAP5	ORPHA:91387
HP:0012531	Pain	4638	MYLK	ORPHA:91387
HP:0012531	Pain	4041	LRP5	OMIM:607634
HP:0012531	Pain	79577	CDC73	ORPHA:143
HP:0012531	Pain	79577	CDC73	ORPHA:99880
HP:0012531	Pain	4166	CHST6	ORPHA:98969
HP:0012531	Pain	1308	COL17A1	ORPHA:293381
HP:0012531	Pain	1308	COL17A1	OMIM:122400
HP:0012531	Pain	8314	BAP1	ORPHA:39044
HP:0012531	Pain	57105	CYSLTR2	ORPHA:39044
HP:0012531	Pain	2776	GNAQ	ORPHA:39044
HP:0012531	Pain	2767	GNA11	ORPHA:39044
HP:0012531	Pain	23451	SF3B1	ORPHA:39044
HP:0012531	Pain	7045	TGFBI	ORPHA:98962
HP:0012531	Pain	7045	TGFBI	ORPHA:98964
HP:0012531	Pain	7045	TGFBI	ORPHA:98960
HP:0012531	Pain	1497	CTNS	ORPHA:411634
HP:0012531	Pain	23516	SLC39A14	OMIM:144755
HP:0012531	Pain	30813	VSX1	ORPHA:98973
HP:0012531	Pain	58495	OVOL2	ORPHA:98973
HP:0012531	Pain	79977	GRHL2	ORPHA:98973
HP:0012531	Pain	4233	MET	ORPHA:33402
HP:0012531	Pain	7840	ALMS1	ORPHA:64
HP:0012531	Pain	11330	CTRC	ORPHA:103918
HP:0012531	Pain	6690	SPINK1	ORPHA:103918
HP:0012531	Pain	3075	CFH	ORPHA:244242
HP:0012531	Pain	3426	CFI	ORPHA:244242
HP:0012531	Pain	4179	CD46	ORPHA:244242
HP:0012531	Pain	101101692	HELLPAR	ORPHA:244242
HP:0012531	Pain	6335	SCN9A	OMIM:167400
HP:0032967	Panacinar emphysema	5265	SERPINA1	OMIM:613490
HP:0032965	Interstitial emphysema	5297	PI4KA	OMIM:619708
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	6439	SFTPB	OMIM:265120
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	6439	SFTPB	ORPHA:217563
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	9056	SLC7A7	OMIM:222700
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	9056	SLC7A7	ORPHA:470
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	1438	CSF2RA	OMIM:300770
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	1439	CSF2RB	OMIM:614370
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	3123	HLA-DRB1	ORPHA:747
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	21	ABCA3	OMIM:610921
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	4938	OAS1	OMIM:618042
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	4141	MARS1	OMIM:615486
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	6440	SFTPC	OMIM:610913
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	56244	BTNL2	OMIM:612387
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	7080	NKX2-1	OMIM:610978
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	727897	MUC5B	OMIM:178500
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	729238	SFTPA2	OMIM:178500
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	7015	TERT	OMIM:178500
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	1314	COPA	OMIM:616414
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	653509	SFTPA1	OMIM:619611
HP:0008936	Axial hypotonia	2137	EXTL3	ORPHA:508533
HP:0008936	Axial hypotonia	2137	EXTL3	OMIM:617425
HP:0008936	Axial hypotonia	5138	PDE2A	OMIM:619150
HP:0008936	Axial hypotonia	6535	SLC6A8	OMIM:300352
HP:0008936	Axial hypotonia	8367	H4C5	OMIM:619950
HP:0008936	Axial hypotonia	104	ADARB1	OMIM:618862
HP:0008936	Axial hypotonia	340533	NEXMIF	OMIM:300912
HP:0008936	Axial hypotonia	9853	RUSC2	OMIM:617773
HP:0008936	Axial hypotonia	5393	EXOSC9	OMIM:618065
HP:0008936	Axial hypotonia	55823	VPS11	OMIM:616683
HP:0008936	Axial hypotonia	6659	SOX4	OMIM:618506
HP:0008936	Axial hypotonia	10059	DNM1L	OMIM:614388
HP:0008936	Axial hypotonia	7355	SLC35A2	ORPHA:356961
HP:0008936	Axial hypotonia	775	CACNA1C	OMIM:620029
HP:0008936	Axial hypotonia	9254	CACNA2D2	OMIM:618501
HP:0008936	Axial hypotonia	7360	UGP2	OMIM:618744
HP:0008936	Axial hypotonia	347734	SLC35B2	OMIM:620269
HP:0008936	Axial hypotonia	781	CACNA2D1	OMIM:620149
HP:0008936	Axial hypotonia	84942	WDR73	OMIM:251300
HP:0008936	Axial hypotonia	51343	FZR1	OMIM:620145
HP:0008936	Axial hypotonia	80222	TARS2	OMIM:615918
HP:0008936	Axial hypotonia	1161	ERCC8	ORPHA:90322
HP:0008936	Axial hypotonia	2067	ERCC1	ORPHA:90322
HP:0008936	Axial hypotonia	2074	ERCC6	ORPHA:90322
HP:0008936	Axial hypotonia	2074	ERCC6	OMIM:214150
HP:0008936	Axial hypotonia	57165	GJC2	OMIM:608804
HP:0008936	Axial hypotonia	6531	SLC6A3	ORPHA:238455
HP:0008936	Axial hypotonia	6531	SLC6A3	OMIM:613135
HP:0008936	Axial hypotonia	51112	TRAPPC12	ORPHA:500144
HP:0008936	Axial hypotonia	51112	TRAPPC12	OMIM:617669
HP:0008936	Axial hypotonia	6341	SCO1	OMIM:619048
HP:0008936	Axial hypotonia	6536	SLC6A9	OMIM:617301
HP:0008936	Axial hypotonia	89910	UBE3B	OMIM:244450
HP:0008936	Axial hypotonia	51741	WWOX	OMIM:616211
HP:0008936	Axial hypotonia	51506	UFC1	OMIM:618076
HP:0008936	Axial hypotonia	387787	LIPT2	OMIM:617668
HP:0008936	Axial hypotonia	4010	LMX1B	ORPHA:495818
HP:0008936	Axial hypotonia	6812	STXBP1	ORPHA:495818
HP:0008936	Axial hypotonia	166378	AFG2A	OMIM:616577
HP:0008936	Axial hypotonia	79947	DHDDS	OMIM:613861
HP:0008936	Axial hypotonia	375387	NRROS	OMIM:618875
HP:0008936	Axial hypotonia	10565	ARFGEF1	OMIM:619964
HP:0008936	Axial hypotonia	80055	PGAP1	OMIM:615802
HP:0008936	Axial hypotonia	16	AARS1	OMIM:616339
HP:0008936	Axial hypotonia	55163	PNPO	ORPHA:79096
HP:0008936	Axial hypotonia	55163	PNPO	OMIM:610090
HP:0008936	Axial hypotonia	10381	TUBB3	OMIM:614039
HP:0008936	Axial hypotonia	2911	GRM1	OMIM:614831
HP:0008936	Axial hypotonia	10978	CLP1	OMIM:615803
HP:0008936	Axial hypotonia	79158	GNPTAB	OMIM:252500
HP:0008936	Axial hypotonia	79158	GNPTAB	ORPHA:576
HP:0008936	Axial hypotonia	271	AMPD2	OMIM:615809
HP:0008936	Axial hypotonia	63908	NAPB	OMIM:620033
HP:0008936	Axial hypotonia	87178	PNPT1	ORPHA:319514
HP:0008936	Axial hypotonia	87178	PNPT1	OMIM:614932
HP:0008936	Axial hypotonia	1185	CLCN6	OMIM:619173
HP:0008936	Axial hypotonia	7054	TH	OMIM:605407
HP:0008936	Axial hypotonia	25839	COG4	ORPHA:263501
HP:0008936	Axial hypotonia	25839	COG4	OMIM:613489
HP:0008936	Axial hypotonia	4718	NDUFC2	OMIM:619170
HP:0008936	Axial hypotonia	4001	LMNB1	OMIM:619179
HP:0008936	Axial hypotonia	55870	ASH1L	OMIM:617796
HP:0008936	Axial hypotonia	8913	CACNA1G	OMIM:618087
HP:0008936	Axial hypotonia	6844	VAMP2	OMIM:618760
HP:0008936	Axial hypotonia	5119	CHMP1A	OMIM:614961
HP:0008936	Axial hypotonia	816	CAMK2B	OMIM:617799
HP:0008936	Axial hypotonia	3064	HTT	OMIM:617435
HP:0008936	Axial hypotonia	5631	PRPS1	ORPHA:1187
HP:0008936	Axial hypotonia	5631	PRPS1	ORPHA:423479
HP:0008936	Axial hypotonia	8398	PLA2G6	ORPHA:35069
HP:0008936	Axial hypotonia	9570	GOSR2	OMIM:620166
HP:0008936	Axial hypotonia	5095	PCCA	OMIM:606054
HP:0008936	Axial hypotonia	5096	PCCB	OMIM:606054
HP:0008936	Axial hypotonia	8802	SUCLG1	OMIM:245400
HP:0008936	Axial hypotonia	57531	HACE1	ORPHA:464282
HP:0008936	Axial hypotonia	171023	ASXL1	ORPHA:97297
HP:0008936	Axial hypotonia	10087	CERT1	OMIM:616351
HP:0008936	Axial hypotonia	1656	DDX6	OMIM:618653
HP:0008936	Axial hypotonia	25930	PTPN23	OMIM:618890
HP:0008936	Axial hypotonia	23327	NEDD4L	OMIM:617201
HP:0008936	Axial hypotonia	132158	GLYCTK	OMIM:220120
HP:0008936	Axial hypotonia	6663	SOX10	OMIM:611584
HP:0008936	Axial hypotonia	10382	TUBB4A	OMIM:612438
HP:0008936	Axial hypotonia	1499	CTNNB1	ORPHA:404473
HP:0008936	Axial hypotonia	2615	LRRC32	OMIM:619074
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300673
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300055
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300260
HP:0008936	Axial hypotonia	253738	EBF3	OMIM:617330
HP:0008936	Axial hypotonia	6905	TBCE	OMIM:241410
HP:0008936	Axial hypotonia	11154	AP4S1	OMIM:614067
HP:0008936	Axial hypotonia	27089	UQCRQ	OMIM:615159
HP:0008936	Axial hypotonia	56006	SMG9	OMIM:616920
HP:0008936	Axial hypotonia	9255	AIMP1	OMIM:260600
HP:0008936	Axial hypotonia	116115	ZNF526	OMIM:619877
HP:0008936	Axial hypotonia	7701	ZNF142	OMIM:618425
HP:0008936	Axial hypotonia	3098	HK1	OMIM:618547
HP:0008936	Axial hypotonia	10846	PDE10A	OMIM:616921
HP:0008936	Axial hypotonia	10846	PDE10A	ORPHA:494526
HP:0008936	Axial hypotonia	25977	NECAP1	OMIM:615833
HP:0008936	Axial hypotonia	10290	SPEG	OMIM:615959
HP:0008936	Axial hypotonia	90624	LYRM7	OMIM:615838
HP:0008936	Axial hypotonia	10056	FARSB	OMIM:613658
HP:0008936	Axial hypotonia	5354	PLP1	ORPHA:280219
HP:0008936	Axial hypotonia	80704	SLC19A3	OMIM:607483
HP:0008936	Axial hypotonia	84992	PIGY	OMIM:616809
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:606703
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:619647
HP:0008936	Axial hypotonia	111	ADCY5	ORPHA:324588
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:619651
HP:0008936	Axial hypotonia	5700	PSMC1	OMIM:620071
HP:0008936	Axial hypotonia	55210	ATAD3A	ORPHA:496790
HP:0008936	Axial hypotonia	55210	ATAD3A	OMIM:617183
HP:0008936	Axial hypotonia	3785	KCNQ2	ORPHA:1949
HP:0008936	Axial hypotonia	3786	KCNQ3	ORPHA:1949
HP:0008936	Axial hypotonia	1615	DARS1	OMIM:615281
HP:0008936	Axial hypotonia	2232	FDXR	ORPHA:543470
HP:0008936	Axial hypotonia	7358	UGDH	OMIM:618792
HP:0008936	Axial hypotonia	10991	SLC38A3	OMIM:619881
HP:0008936	Axial hypotonia	2904	GRIN2B	OMIM:616139
HP:0008936	Axial hypotonia	6506	SLC1A2	OMIM:617105
HP:0008936	Axial hypotonia	23261	CAMTA1	OMIM:614756
HP:0008936	Axial hypotonia	64135	IFIH1	OMIM:615846
HP:0008936	Axial hypotonia	64135	IFIH1	ORPHA:51
HP:0008936	Axial hypotonia	25973	PARS2	OMIM:618437
HP:0008936	Axial hypotonia	9562	MINPP1	OMIM:619527
HP:0008936	Axial hypotonia	11261	CHP1	OMIM:618438
HP:0008936	Axial hypotonia	10667	FARS2	ORPHA:466722
HP:0008936	Axial hypotonia	5373	PMM2	ORPHA:79318
HP:0008936	Axial hypotonia	55739	NAXD	OMIM:618321
HP:0008936	Axial hypotonia	7143	TNR	OMIM:619653
HP:0008936	Axial hypotonia	5917	RARS1	OMIM:616140
HP:0008936	Axial hypotonia	10463	SLC30A9	OMIM:617595
HP:0008936	Axial hypotonia	125988	MICOS13	OMIM:618329
HP:0008936	Axial hypotonia	57479	PRR12	OMIM:619539
HP:0008936	Axial hypotonia	7994	KAT6A	OMIM:616268
HP:0008936	Axial hypotonia	51227	PIGP	OMIM:617599
HP:0008936	Axial hypotonia	23219	FBXO28	OMIM:619777
HP:0008936	Axial hypotonia	5195	PEX14	OMIM:614887
HP:0008936	Axial hypotonia	85021	REPS1	OMIM:617916
HP:0008936	Axial hypotonia	5048	PAFAH1B1	ORPHA:95232
HP:0008936	Axial hypotonia	5048	PAFAH1B1	OMIM:607432
HP:0008936	Axial hypotonia	28962	OSTM1	OMIM:259720
HP:0008936	Axial hypotonia	10195	ALG3	OMIM:601110
HP:0008936	Axial hypotonia	6567	SLC16A2	ORPHA:59
HP:0008936	Axial hypotonia	197322	ACSF3	ORPHA:289504
HP:0008936	Axial hypotonia	27247	NFU1	OMIM:605711
HP:0008936	Axial hypotonia	10533	ATG7	OMIM:619422
HP:0008936	Axial hypotonia	56160	NSMCE3	OMIM:617241
HP:0008936	Axial hypotonia	27077	B9D1	OMIM:617120
HP:0008936	Axial hypotonia	54903	MKS1	OMIM:249000
HP:0008936	Axial hypotonia	3658	IREB2	OMIM:618451
HP:0008936	Axial hypotonia	2581	GALC	OMIM:245200
HP:0008936	Axial hypotonia	2581	GALC	ORPHA:206443
HP:0008936	Axial hypotonia	2702	GJA5	OMIM:612474
HP:0008936	Axial hypotonia	2703	GJA8	OMIM:612474
HP:0008936	Axial hypotonia	10243	GPHN	OMIM:615501
HP:0008936	Axial hypotonia	51025	PAM16	OMIM:613320
HP:0008936	Axial hypotonia	5081	PAX7	OMIM:618578
HP:0008936	Axial hypotonia	2744	GLS	OMIM:618339
HP:0008936	Axial hypotonia	5277	PIGA	OMIM:301072
HP:0008936	Axial hypotonia	5277	PIGA	OMIM:300868
HP:0008936	Axial hypotonia	10535	RNASEH2A	ORPHA:51
HP:0008936	Axial hypotonia	84153	RNASEH2C	ORPHA:51
HP:0008936	Axial hypotonia	25939	SAMHD1	ORPHA:51
HP:0008936	Axial hypotonia	25939	SAMHD1	OMIM:612952
HP:0008936	Axial hypotonia	79621	RNASEH2B	ORPHA:51
HP:0008936	Axial hypotonia	103	ADAR	ORPHA:51
HP:0008936	Axial hypotonia	11277	TREX1	ORPHA:51
HP:0008936	Axial hypotonia	11277	TREX1	OMIM:225750
HP:0008936	Axial hypotonia	100147744	RNU7-1	ORPHA:51
HP:0008936	Axial hypotonia	100147744	RNU7-1	OMIM:619487
HP:0008936	Axial hypotonia	134353	LSM11	ORPHA:51
HP:0008936	Axial hypotonia	2902	GRIN1	ORPHA:208447
HP:0008936	Axial hypotonia	2902	GRIN1	OMIM:619814
HP:0008936	Axial hypotonia	8504	PEX3	OMIM:617370
HP:0008936	Axial hypotonia	8243	SMC1A	OMIM:301044
HP:0008936	Axial hypotonia	79876	UBA5	OMIM:617132
HP:0008936	Axial hypotonia	23516	SLC39A14	OMIM:617013
HP:0008936	Axial hypotonia	160418	TMTC3	OMIM:617255
HP:0008936	Axial hypotonia	8573	CASK	OMIM:300749
HP:0008936	Axial hypotonia	85476	GFM1	OMIM:609060
HP:0008936	Axial hypotonia	4719	NDUFS1	OMIM:618226
HP:0008936	Axial hypotonia	51412	ACTL6B	OMIM:618468
HP:0008936	Axial hypotonia	6418	SET	OMIM:618106
HP:0008936	Axial hypotonia	4720	NDUFS2	OMIM:618228
HP:0008936	Axial hypotonia	6323	SCN1A	OMIM:619317
HP:0008936	Axial hypotonia	4729	NDUFV2	OMIM:618229
HP:0008936	Axial hypotonia	6571	SLC18A2	ORPHA:352649
HP:0008936	Axial hypotonia	6571	SLC18A2	OMIM:618049
HP:0008936	Axial hypotonia	170302	ARX	OMIM:308350
HP:0008936	Axial hypotonia	8050	PDHX	ORPHA:255182
HP:0008936	Axial hypotonia	56945	MRPS22	OMIM:611719
HP:0008936	Axial hypotonia	55187	VPS13D	OMIM:607317
HP:0008936	Axial hypotonia	23102	TBC1D2B	OMIM:619323
HP:0008936	Axial hypotonia	56521	DNAJC12	OMIM:617384
HP:0008936	Axial hypotonia	5610	EIF2AK2	OMIM:619687
HP:0008936	Axial hypotonia	64801	ARV1	OMIM:617020
HP:0008936	Axial hypotonia	6647	SOD1	OMIM:618598
HP:0008936	Axial hypotonia	51601	LIPT1	OMIM:616299
HP:0008936	Axial hypotonia	56997	COQ8A	OMIM:612016
HP:0008936	Axial hypotonia	5010	CLDN11	OMIM:619328
HP:0008936	Axial hypotonia	51010	EXOSC3	OMIM:614678
HP:0008936	Axial hypotonia	1644	DDC	OMIM:608643
HP:0008936	Axial hypotonia	64221	ROBO3	OMIM:607313
HP:0008936	Axial hypotonia	3767	KCNJ11	ORPHA:79134
HP:0008936	Axial hypotonia	79731	NARS2	ORPHA:79134
HP:0008936	Axial hypotonia	6833	ABCC8	ORPHA:79134
HP:0008936	Axial hypotonia	23499	MACF1	ORPHA:572013
HP:0008936	Axial hypotonia	387119	CEP85L	ORPHA:572013
HP:0008936	Axial hypotonia	1725	DHPS	OMIM:618480
HP:0008936	Axial hypotonia	4694	NDUFA1	OMIM:301020
HP:0008936	Axial hypotonia	4784	NFIX	OMIM:602535
HP:0008936	Axial hypotonia	55250	ELP2	OMIM:617270
HP:0008936	Axial hypotonia	8120	AP3B2	OMIM:617276
HP:0008936	Axial hypotonia	10352	WARS2	OMIM:617710
HP:0008936	Axial hypotonia	2664	GDI1	OMIM:300849
HP:0008936	Axial hypotonia	80746	TSEN2	OMIM:612389
HP:0008936	Axial hypotonia	51079	NDUFA13	OMIM:618249
HP:0008936	Axial hypotonia	84188	FAR1	OMIM:619338
HP:0008936	Axial hypotonia	2917	GRM7	OMIM:618922
HP:0008936	Axial hypotonia	819	CAMLG	OMIM:620201
HP:0008936	Axial hypotonia	259232	NALCN	OMIM:615419
HP:0008936	Axial hypotonia	259232	NALCN	ORPHA:371364
HP:0008936	Axial hypotonia	54704	PDP1	ORPHA:79246
HP:0008936	Axial hypotonia	1000	CDH2	OMIM:618929
HP:0008936	Axial hypotonia	8604	SLC25A12	OMIM:612949
HP:0008936	Axial hypotonia	6821	SUOX	OMIM:272300
HP:0008936	Axial hypotonia	2898	GRIK2	OMIM:619580
HP:0008936	Axial hypotonia	7703	PCGF2	OMIM:618371
HP:0008936	Axial hypotonia	23258	DENND5A	OMIM:617281
HP:0008936	Axial hypotonia	1641	DCX	OMIM:300067
HP:0008936	Axial hypotonia	6390	SDHB	OMIM:619224
HP:0008936	Axial hypotonia	2906	GRIN2D	OMIM:617162
HP:0008936	Axial hypotonia	4761	NEUROD2	OMIM:618374
HP:0008936	Axial hypotonia	4700	NDUFA6	OMIM:618253
HP:0008936	Axial hypotonia	2257	FGF12	OMIM:617166
HP:0008936	Axial hypotonia	23065	EMC1	OMIM:616875
HP:0008936	Axial hypotonia	6304	SATB1	OMIM:619229
HP:0008936	Axial hypotonia	84668	HYCC1	OMIM:610532
HP:0008936	Axial hypotonia	57572	DOCK6	OMIM:614219
HP:0008936	Axial hypotonia	6697	SPR	OMIM:612716
HP:0008936	Axial hypotonia	6697	SPR	ORPHA:70594
HP:0008936	Axial hypotonia	7074	TIAM1	OMIM:619908
HP:0008936	Axial hypotonia	5092	PCBD1	ORPHA:1578
HP:0008936	Axial hypotonia	59336	PRDM13	OMIM:619909
HP:0008936	Axial hypotonia	8943	AP3D1	OMIM:617050
HP:0008936	Axial hypotonia	57498	KIDINS220	OMIM:617296
HP:0008936	Axial hypotonia	51095	TRNT1	OMIM:616084
HP:0008936	Axial hypotonia	2892	GRIA3	ORPHA:364028
HP:0008936	Axial hypotonia	51501	HIKESHI	OMIM:616881
HP:0008936	Axial hypotonia	54539	NDUFB11	OMIM:300952
HP:0008936	Axial hypotonia	25782	RAB3GAP2	OMIM:614225
HP:0008936	Axial hypotonia	22931	RAB18	OMIM:614222
HP:0008936	Axial hypotonia	3643	INSR	ORPHA:508
HP:0008936	Axial hypotonia	56270	WDR45B	OMIM:617977
HP:0008936	Axial hypotonia	285175	UNC80	ORPHA:371364
HP:0008936	Axial hypotonia	10682	EBP	OMIM:300960
HP:0008936	Axial hypotonia	2571	GAD1	OMIM:619124
HP:0008936	Axial hypotonia	90522	YIF1B	OMIM:619125
HP:0008936	Axial hypotonia	60558	GUF1	OMIM:617065
HP:0008936	Axial hypotonia	374354	NHLRC2	OMIM:618278
HP:0008936	Axial hypotonia	4841	NONO	OMIM:300967
HP:0008936	Axial hypotonia	440138	ALG11	ORPHA:280071
HP:0008936	Axial hypotonia	6182	MRPL12	OMIM:618951
HP:0008936	Axial hypotonia	51124	IER3IP1	OMIM:614231
HP:0008936	Axial hypotonia	79143	MBOAT7	OMIM:617188
HP:0008936	Axial hypotonia	57688	ZSWIM6	OMIM:617865
HP:0008936	Axial hypotonia	4976	OPA1	OMIM:616896
HP:0008936	Axial hypotonia	4190	MDH1	OMIM:618959
HP:0008936	Axial hypotonia	57038	RARS2	OMIM:611523
HP:0008936	Axial hypotonia	100506658	OCLN	OMIM:251290
HP:0008936	Axial hypotonia	93587	TRMT10A	ORPHA:391408
HP:0008936	Axial hypotonia	84919	PPP1R15B	ORPHA:391408
HP:0008936	Axial hypotonia	617	BCS1L	OMIM:124000
HP:0008936	Axial hypotonia	60386	SLC25A19	OMIM:607196
HP:0008936	Axial hypotonia	29929	ALG6	OMIM:603147
HP:0008936	Axial hypotonia	5296	PIK3R2	OMIM:603387
HP:0008936	Axial hypotonia	5805	PTS	OMIM:261640
HP:0008936	Axial hypotonia	54888	NSUN2	OMIM:611091
HP:0008936	Axial hypotonia	29920	PYCR2	OMIM:616420
HP:0008936	Axial hypotonia	440	ASNS	OMIM:615574
HP:0008936	Axial hypotonia	777	CACNA1E	OMIM:618285
HP:0008936	Axial hypotonia	203190	LGI3	OMIM:620007
HP:0008936	Axial hypotonia	51294	PCDH12	OMIM:251280
HP:0008936	Axial hypotonia	9439	MED23	OMIM:614249
HP:0008936	Axial hypotonia	84081	NSRP1	OMIM:620001
HP:0008936	Axial hypotonia	124454	EARS2	OMIM:614924
HP:0008936	Axial hypotonia	3778	KCNMA1	OMIM:618729
HP:0008936	Axial hypotonia	64802	NMNAT1	OMIM:619260
HP:0008936	Axial hypotonia	116150	NUS1	OMIM:617082
HP:0008936	Axial hypotonia	27072	VPS41	OMIM:619389
HP:0008936	Axial hypotonia	1968	EIF2S3	OMIM:300148
HP:0008936	Axial hypotonia	55331	ACER3	OMIM:617762
HP:0008936	Axial hypotonia	50484	RRM2B	OMIM:612075
HP:0008936	Axial hypotonia	221927	BRAT1	OMIM:618056
HP:0008936	Axial hypotonia	221927	BRAT1	OMIM:614498
HP:0008936	Axial hypotonia	10844	TUBGCP2	OMIM:618737
HP:0008936	Axial hypotonia	547	KIF1A	OMIM:614255
HP:0008936	Axial hypotonia	23236	PLCB1	OMIM:613722
HP:0008936	Axial hypotonia	27445	PCLO	OMIM:608027
HP:0008936	Axial hypotonia	284111	SLC13A5	OMIM:615905
HP:0008936	Axial hypotonia	2760	GM2A	OMIM:272750
HP:0008936	Axial hypotonia	1798	DPAGT1	ORPHA:86309
HP:0008936	Axial hypotonia	84340	GFM2	ORPHA:565624
HP:0008936	Axial hypotonia	3074	HEXB	ORPHA:309155
HP:0008936	Axial hypotonia	2260	FGFR1	ORPHA:220386
HP:0008936	Axial hypotonia	2260	FGFR1	ORPHA:93924
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:220386
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93926
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93924
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93925
HP:0008936	Axial hypotonia	10735	STAG2	ORPHA:220386
HP:0008936	Axial hypotonia	10735	STAG2	ORPHA:93925
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:220386
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93926
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93924
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93925
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:220386
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93926
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93924
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93925
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:220386
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93926
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93924
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93925
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:220386
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93926
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93924
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93925
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:220386
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93926
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93924
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93925
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:220386
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93926
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93924
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93925
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:220386
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93926
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93924
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93925
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:220386
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93926
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93924
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93925
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:220386
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93926
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93924
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93925
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:220386
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93926
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93924
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93925
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:220386
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93926
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93924
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93925
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:220386
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93926
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93924
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93925
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:220386
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93926
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93924
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93925
HP:0008936	Axial hypotonia	815	CAMK2A	OMIM:617798
HP:0008936	Axial hypotonia	5660	PSAP	ORPHA:206436
HP:0008936	Axial hypotonia	2671	GFER	ORPHA:330054
HP:0008936	Axial hypotonia	25914	RTTN	ORPHA:468631
HP:0008936	Axial hypotonia	4125	MAN2B1	ORPHA:309282
HP:0008936	Axial hypotonia	29968	PSAT1	ORPHA:284417
HP:0008936	Axial hypotonia	6261	RYR1	ORPHA:424107
HP:0008936	Axial hypotonia	2903	GRIN2A	ORPHA:289266
HP:0008936	Axial hypotonia	283989	TSEN54	ORPHA:2524
HP:0008936	Axial hypotonia	116461	TSEN15	ORPHA:2524
HP:0008936	Axial hypotonia	79042	TSEN34	ORPHA:2524
HP:0008936	Axial hypotonia	51091	SEPSECS	ORPHA:2524
HP:0008936	Axial hypotonia	56947	MFF	ORPHA:485421
HP:0008936	Axial hypotonia	2782	GNB1	OMIM:616973
HP:0008936	Axial hypotonia	58497	PRUNE1	ORPHA:544469
HP:0008936	Axial hypotonia	23007	PLCH1	ORPHA:93925
HP:0008936	Axial hypotonia	2683	B4GALT1	ORPHA:79332
HP:0008936	Axial hypotonia	267010	RNU12	ORPHA:512260
HP:0002321	Vertigo	26191	PTPN22	ORPHA:397
HP:0002321	Vertigo	3106	HLA-B	ORPHA:397
HP:0002321	Vertigo	3106	HLA-B	ORPHA:117
HP:0002321	Vertigo	3123	HLA-DRB1	ORPHA:397
HP:0002321	Vertigo	8974	P4HA2	ORPHA:397
HP:0002321	Vertigo	2639	GCDH	ORPHA:25
HP:0002321	Vertigo	4352	MPL	ORPHA:71493
HP:0002321	Vertigo	4352	MPL	ORPHA:729
HP:0002321	Vertigo	7066	THPO	ORPHA:71493
HP:0002321	Vertigo	3717	JAK2	ORPHA:71493
HP:0002321	Vertigo	3717	JAK2	ORPHA:729
HP:0002321	Vertigo	3717	JAK2	OMIM:133100
HP:0002321	Vertigo	773	CACNA1A	OMIM:183086
HP:0002321	Vertigo	773	CACNA1A	OMIM:108500
HP:0002321	Vertigo	773	CACNA1A	ORPHA:569
HP:0002321	Vertigo	773	CACNA1A	ORPHA:97
HP:0002321	Vertigo	773	CACNA1A	ORPHA:71518
HP:0002321	Vertigo	3736	KCNA1	OMIM:160120
HP:0002321	Vertigo	3736	KCNA1	ORPHA:37612
HP:0002321	Vertigo	4598	MVK	OMIM:260920
HP:0002321	Vertigo	4038	LRP4	OMIM:614305
HP:0002321	Vertigo	785	CACNB4	OMIM:613855
HP:0002321	Vertigo	785	CACNB4	ORPHA:211067
HP:0002321	Vertigo	2057	EPOR	ORPHA:90042
HP:0002321	Vertigo	2057	EPOR	OMIM:133100
HP:0002321	Vertigo	3766	KCNJ10	ORPHA:705
HP:0002321	Vertigo	2299	FOXI1	ORPHA:705
HP:0002321	Vertigo	5172	SLC26A4	ORPHA:705
HP:0002321	Vertigo	6261	RYR1	ORPHA:466650
HP:0002321	Vertigo	51816	ADA2	ORPHA:820
HP:0002321	Vertigo	6507	SLC1A3	ORPHA:209967
HP:0002321	Vertigo	6507	SLC1A3	OMIM:612656
HP:0002321	Vertigo	3728	JUP	ORPHA:34217
HP:0002321	Vertigo	5155	PDGFB	OMIM:615483
HP:0002321	Vertigo	4221	MEN1	ORPHA:2965
HP:0002321	Vertigo	64072	CDH23	ORPHA:2965
HP:0002321	Vertigo	64072	CDH23	ORPHA:91347
HP:0002321	Vertigo	9049	AIP	ORPHA:2965
HP:0002321	Vertigo	7132	TNFRSF1A	ORPHA:32960
HP:0002321	Vertigo	4633	MYL2	OMIM:608758
HP:0002321	Vertigo	2642	GCGR	OMIM:619290
HP:0002321	Vertigo	9131	AIFM1	OMIM:300614
HP:0002321	Vertigo	6326	SCN2A	OMIM:618924
HP:0002321	Vertigo	6331	SCN5A	ORPHA:1344
HP:0002321	Vertigo	6331	SCN5A	ORPHA:871
HP:0002321	Vertigo	4878	NPPA	ORPHA:1344
HP:0002321	Vertigo	54790	TET2	ORPHA:729
HP:0002321	Vertigo	2717	GLA	ORPHA:324
HP:0002321	Vertigo	112476	PRRT2	ORPHA:569
HP:0002321	Vertigo	6323	SCN1A	ORPHA:569
HP:0002321	Vertigo	477	ATP1A2	ORPHA:569
HP:0002321	Vertigo	477	ATP1A2	OMIM:602481
HP:0002321	Vertigo	1281	COL3A1	ORPHA:286
HP:0002321	Vertigo	2992	GYG1	ORPHA:263297
HP:0002321	Vertigo	4647	MYO7A	OMIM:601317
HP:0002321	Vertigo	4647	MYO7A	OMIM:600060
HP:0002321	Vertigo	54805	CNNM2	OMIM:613882
HP:0002321	Vertigo	595	CCND1	OMIM:193300
HP:0002321	Vertigo	595	CCND1	ORPHA:892
HP:0002321	Vertigo	7428	VHL	OMIM:193300
HP:0002321	Vertigo	7428	VHL	ORPHA:892
HP:0002321	Vertigo	27010	TPK1	OMIM:614458
HP:0002321	Vertigo	10528	NOP56	ORPHA:276198
HP:0002321	Vertigo	2313	FLI1	ORPHA:370348
HP:0002321	Vertigo	1499	CTNNB1	ORPHA:54595
HP:0002321	Vertigo	673	BRAF	ORPHA:54595
HP:0002321	Vertigo	2259	FGF14	OMIM:620174
HP:0002321	Vertigo	4771	NF2	OMIM:101000
HP:0002321	Vertigo	54795	TRPM4	ORPHA:871
HP:0002321	Vertigo	1482	NKX2-5	ORPHA:871
HP:0002321	Vertigo	6324	SCN1B	ORPHA:871
HP:0002321	Vertigo	10019	SH2B3	OMIM:133100
HP:0002321	Vertigo	1621	DBH	ORPHA:230
HP:0002321	Vertigo	2624	GATA2	ORPHA:3226
HP:0002321	Vertigo	30813	VSX1	OMIM:614195
HP:0002321	Vertigo	801	CALM1	OMIM:614916
HP:0002321	Vertigo	801	CALM1	ORPHA:3286
HP:0002321	Vertigo	9968	MED12	OMIM:301068
HP:0002321	Vertigo	1690	COCH	OMIM:601369
HP:0002321	Vertigo	8913	CACNA1G	ORPHA:458803
HP:0002321	Vertigo	6389	SDHA	OMIM:619259
HP:0002321	Vertigo	22943	DKK1	ORPHA:268882
HP:0002321	Vertigo	4668	NAGA	ORPHA:79280
HP:0002321	Vertigo	4668	NAGA	OMIM:609242
HP:0002321	Vertigo	4668	NAGA	ORPHA:79279
HP:0002321	Vertigo	805	CALM2	ORPHA:3286
HP:0002321	Vertigo	253017	TECRL	ORPHA:3286
HP:0002321	Vertigo	10345	TRDN	ORPHA:3286
HP:0002321	Vertigo	808	CALM3	ORPHA:3286
HP:0002321	Vertigo	845	CASQ2	ORPHA:3286
HP:0002321	Vertigo	6262	RYR2	ORPHA:3286
HP:0002321	Vertigo	6774	STAT3	ORPHA:520
HP:0002321	Vertigo	5371	PML	ORPHA:520
HP:0002321	Vertigo	5914	RARA	ORPHA:520
HP:0002321	Vertigo	359948	IRF2BP2	ORPHA:520
HP:0002321	Vertigo	81608	FIP1L1	ORPHA:520
HP:0002321	Vertigo	4869	NPM1	ORPHA:520
HP:0002321	Vertigo	5573	PRKAR1A	ORPHA:520
HP:0002321	Vertigo	54880	BCOR	ORPHA:520
HP:0002321	Vertigo	64859	NABP1	ORPHA:520
HP:0002321	Vertigo	6777	STAT5B	ORPHA:520
HP:0002321	Vertigo	4926	NUMA1	ORPHA:520
HP:0002321	Vertigo	7704	ZBTB16	ORPHA:520
HP:0002321	Vertigo	79718	TBL1XR1	ORPHA:520
HP:0002321	Vertigo	4615	MYD88	ORPHA:33226
HP:0002321	Vertigo	6559	SLC12A3	OMIM:263800
HP:0002321	Vertigo	6559	SLC12A3	ORPHA:358
HP:0002321	Vertigo	1188	CLCNKB	ORPHA:358
HP:0002321	Vertigo	149233	IL23R	ORPHA:117
HP:0002321	Vertigo	6775	STAT4	ORPHA:117
HP:0002321	Vertigo	3586	IL10	ORPHA:117
HP:0002321	Vertigo	4210	MEFV	ORPHA:117
HP:0002321	Vertigo	1230	CCR1	ORPHA:117
HP:0002321	Vertigo	355	FAS	ORPHA:117
HP:0002321	Vertigo	3592	IL12A	ORPHA:117
HP:0002321	Vertigo	101928376	IL12A-AS1	ORPHA:117
HP:0002321	Vertigo	7099	TLR4	ORPHA:117
HP:0002321	Vertigo	3459	IFNGR1	ORPHA:117
HP:0002321	Vertigo	720	C4A	ORPHA:117
HP:0002321	Vertigo	337867	UBAC2	ORPHA:117
HP:0002321	Vertigo	51752	ERAP1	ORPHA:117
HP:0002321	Vertigo	8302	KLRC4	ORPHA:117
HP:0002321	Vertigo	1743	DLST	ORPHA:29072
HP:0002321	Vertigo	4191	MDH2	ORPHA:29072
HP:0002321	Vertigo	5979	RET	ORPHA:29072
HP:0002321	Vertigo	5979	RET	ORPHA:276621
HP:0002321	Vertigo	23095	KIF1B	ORPHA:29072
HP:0002321	Vertigo	2271	FH	ORPHA:29072
HP:0002321	Vertigo	8402	SLC25A11	ORPHA:29072
HP:0002321	Vertigo	54949	SDHAF2	ORPHA:29072
HP:0002321	Vertigo	55654	TMEM127	ORPHA:29072
HP:0002321	Vertigo	4763	NF1	ORPHA:29072
HP:0002321	Vertigo	6391	SDHC	ORPHA:29072
HP:0002321	Vertigo	6392	SDHD	ORPHA:29072
HP:0002321	Vertigo	6392	SDHD	ORPHA:276621
HP:0002321	Vertigo	6390	SDHB	ORPHA:29072
HP:0002321	Vertigo	6390	SDHB	ORPHA:276621
HP:0002321	Vertigo	4149	MAX	ORPHA:29072
HP:0002321	Vertigo	1788	DNMT3A	ORPHA:276621
HP:0002321	Vertigo	2034	EPAS1	ORPHA:276621
HP:0002322	Resting tremor	291	SLC25A4	ORPHA:254892
HP:0002322	Resting tremor	5428	POLG	ORPHA:254892
HP:0002322	Resting tremor	5428	POLG	OMIM:157640
HP:0002322	Resting tremor	56652	TWNK	ORPHA:254892
HP:0002322	Resting tremor	11232	POLG2	ORPHA:254892
HP:0002322	Resting tremor	50484	RRM2B	ORPHA:254892
HP:0002322	Resting tremor	2643	GCH1	OMIM:128230
HP:0002322	Resting tremor	26058	GIGYF2	OMIM:607688
HP:0002322	Resting tremor	26058	GIGYF2	ORPHA:411602
HP:0002322	Resting tremor	11253	MAN1B1	ORPHA:397941
HP:0002322	Resting tremor	10159	ATP6AP2	OMIM:300911
HP:0002322	Resting tremor	10159	ATP6AP2	ORPHA:363654
HP:0002322	Resting tremor	7384	UQCRC1	OMIM:619279
HP:0002322	Resting tremor	65018	PINK1	OMIM:605909
HP:0002322	Resting tremor	80207	OPA3	ORPHA:67036
HP:0002322	Resting tremor	1593	CYP27A1	ORPHA:909
HP:0002322	Resting tremor	54902	TTC19	OMIM:615157
HP:0002322	Resting tremor	54832	VPS13C	OMIM:616840
HP:0002322	Resting tremor	4929	NR4A2	OMIM:619911
HP:0002322	Resting tremor	4929	NR4A2	OMIM:168600
HP:0002322	Resting tremor	1786	DNMT1	ORPHA:314404
HP:0002322	Resting tremor	27235	COQ2	ORPHA:227510
HP:0002322	Resting tremor	27235	COQ2	ORPHA:98933
HP:0002322	Resting tremor	6872	TAF1	ORPHA:53351
HP:0002322	Resting tremor	111	ADCY5	OMIM:606703
HP:0002322	Resting tremor	111	ADCY5	ORPHA:324588
HP:0002322	Resting tremor	9829	DNAJC6	ORPHA:391411
HP:0002322	Resting tremor	5420	PODXL	ORPHA:391411
HP:0002322	Resting tremor	8867	SYNJ1	ORPHA:391411
HP:0002322	Resting tremor	23400	ATP13A2	OMIM:617225
HP:0002322	Resting tremor	3781	KCNN2	OMIM:619725
HP:0002322	Resting tremor	5660	PSAP	OMIM:619491
HP:0002322	Resting tremor	4204	MECP2	OMIM:300055
HP:0002322	Resting tremor	4204	MECP2	ORPHA:3077
HP:0002322	Resting tremor	8913	CACNA1G	ORPHA:458803
HP:0002322	Resting tremor	55737	VPS35	OMIM:614203
HP:0002322	Resting tremor	55737	VPS35	ORPHA:411602
HP:0002322	Resting tremor	120892	LRRK2	OMIM:607060
HP:0002322	Resting tremor	120892	LRRK2	ORPHA:411602
HP:0002322	Resting tremor	2629	GBA1	ORPHA:411602
HP:0002322	Resting tremor	2629	GBA1	OMIM:168600
HP:0002322	Resting tremor	23317	DNAJC13	ORPHA:411602
HP:0002322	Resting tremor	1981	EIF4G1	ORPHA:411602
HP:0002322	Resting tremor	1981	EIF4G1	OMIM:614251
HP:0002322	Resting tremor	6622	SNCA	ORPHA:411602
HP:0002322	Resting tremor	6622	SNCA	OMIM:168601
HP:0002322	Resting tremor	116442	RAB39B	OMIM:311510
HP:0002322	Resting tremor	5832	ALDH18A1	OMIM:601162
HP:0002322	Resting tremor	10367	MICU1	ORPHA:401768
HP:0002322	Resting tremor	11315	PARK7	OMIM:606324
HP:0002322	Resting tremor	2512	FTL	ORPHA:157846
HP:0002322	Resting tremor	2332	FMR1	OMIM:300623
HP:0002322	Resting tremor	478	ATP1A3	ORPHA:71517
HP:0002322	Resting tremor	51142	CHCHD2	OMIM:616710
HP:0002322	Resting tremor	23230	VPS13A	ORPHA:2388
HP:0002322	Resting tremor	8398	PLA2G6	OMIM:612953
HP:0002322	Resting tremor	2747	GLUD2	OMIM:168600
HP:0002322	Resting tremor	126	ADH1C	OMIM:168600
HP:0002322	Resting tremor	4137	MAPT	OMIM:168600
HP:0002322	Resting tremor	6908	TBP	OMIM:168600
HP:0002322	Resting tremor	4576	MT-TT	OMIM:168600
HP:0002322	Resting tremor	9627	SNCAIP	OMIM:168600
HP:0002322	Resting tremor	6311	ATXN2	OMIM:168600
HP:0002322	Resting tremor	6315	ATXN8OS	OMIM:168600
HP:0002322	Resting tremor	6792	CDKL5	ORPHA:3095
HP:0002322	Resting tremor	22854	NTNG1	ORPHA:3095
HP:0002322	Resting tremor	9568	GABBR2	ORPHA:3095
HP:0002322	Resting tremor	8243	SMC1A	ORPHA:3095
HP:0002323	Anencephaly	9896	FIG4	OMIM:216340
HP:0002323	Anencephaly	9896	FIG4	ORPHA:3472
HP:0002323	Anencephaly	2737	GLI3	ORPHA:672
HP:0002323	Anencephaly	55697	VAC14	ORPHA:3472
HP:0002323	Anencephaly	65250	CPLANE1	OMIM:277170
HP:0002323	Anencephaly	9928	KIF14	OMIM:616258
HP:0002323	Anencephaly	9928	KIF14	OMIM:617914
HP:0002323	Anencephaly	55636	CHD7	OMIM:214800
HP:0002323	Anencephaly	10535	RNASEH2A	ORPHA:51
HP:0002323	Anencephaly	84153	RNASEH2C	ORPHA:51
HP:0002323	Anencephaly	25939	SAMHD1	ORPHA:51
HP:0002323	Anencephaly	79621	RNASEH2B	ORPHA:51
HP:0002323	Anencephaly	103	ADAR	ORPHA:51
HP:0002323	Anencephaly	11277	TREX1	ORPHA:51
HP:0002323	Anencephaly	100147744	RNU7-1	ORPHA:51
HP:0002323	Anencephaly	134353	LSM11	ORPHA:51
HP:0002323	Anencephaly	64135	IFIH1	ORPHA:51
HP:0002323	Anencephaly	1312	COMT	ORPHA:567
HP:0002323	Anencephaly	221037	JMJD1C	ORPHA:567
HP:0002323	Anencephaly	2812	GP1BB	ORPHA:567
HP:0002323	Anencephaly	6239	RREB1	ORPHA:567
HP:0002323	Anencephaly	6899	TBX1	ORPHA:567
HP:0002323	Anencephaly	7290	HIRA	ORPHA:567
HP:0002323	Anencephaly	9632	SEC24C	ORPHA:567
HP:0002323	Anencephaly	7353	UFD1	ORPHA:567
HP:0002323	Anencephaly	421	ARVCF	ORPHA:567
HP:0002323	Anencephaly	2187	FANCB	ORPHA:3412
HP:0002323	Anencephaly	526	ATP6V1B2	ORPHA:79500
HP:0002323	Anencephaly	57465	TBC1D24	ORPHA:79500
HP:0002323	Anencephaly	10262	SF3B4	ORPHA:1788
HP:0002323	Anencephaly	64093	SMOC1	ORPHA:1106
HP:0002323	Anencephaly	81788	NUAK2	OMIM:619452
HP:0002323	Anencephaly	374654	KIF7	OMIM:614120
HP:0002323	Anencephaly	374654	KIF7	ORPHA:2189
HP:0002323	Anencephaly	57545	CC2D2A	OMIM:612284
HP:0002323	Anencephaly	57545	CC2D2A	ORPHA:564
HP:0002323	Anencephaly	9786	KIAA0586	OMIM:616546
HP:0002323	Anencephaly	80184	CEP290	OMIM:611134
HP:0002323	Anencephaly	80184	CEP290	ORPHA:564
HP:0002323	Anencephaly	57216	VANGL2	OMIM:182940
HP:0002323	Anencephaly	6347	CCL2	OMIM:182940
HP:0002323	Anencephaly	81839	VANGL1	OMIM:182940
HP:0002323	Anencephaly	6862	TBXT	OMIM:182940
HP:0002323	Anencephaly	80199	FUZ	OMIM:182940
HP:0002323	Anencephaly	219844	HYLS1	OMIM:236680
HP:0002323	Anencephaly	219844	HYLS1	ORPHA:2189
HP:0002323	Anencephaly	3239	HOXD13	ORPHA:887
HP:0002323	Anencephaly	84314	TMEM107	ORPHA:564
HP:0002323	Anencephaly	26123	TCTN3	ORPHA:564
HP:0002323	Anencephaly	79867	TCTN2	ORPHA:564
HP:0002323	Anencephaly	80776	B9D2	ORPHA:564
HP:0002323	Anencephaly	80776	B9D2	OMIM:614175
HP:0002323	Anencephaly	79600	TCTN1	ORPHA:564
HP:0002323	Anencephaly	57096	RPGRIP1	ORPHA:564
HP:0002323	Anencephaly	79848	CSPP1	ORPHA:564
HP:0002323	Anencephaly	51259	TMEM216	ORPHA:564
HP:0002323	Anencephaly	51259	TMEM216	OMIM:603194
HP:0002323	Anencephaly	79583	TMEM231	ORPHA:564
HP:0002323	Anencephaly	91147	TMEM67	ORPHA:564
HP:0002323	Anencephaly	79770	TXNDC15	ORPHA:564
HP:0002323	Anencephaly	27077	B9D1	ORPHA:564
HP:0002323	Anencephaly	23322	RPGRIP1L	ORPHA:564
HP:0002323	Anencephaly	23322	RPGRIP1L	OMIM:611561
HP:0002323	Anencephaly	54903	MKS1	ORPHA:564
HP:0002323	Anencephaly	54903	MKS1	OMIM:249000
HP:0002323	Anencephaly	65062	TMEM237	ORPHA:564
HP:0002323	Anencephaly	11041	B4GAT1	OMIM:615287
HP:0002323	Anencephaly	55521	TRIM36	OMIM:206500
HP:0002323	Anencephaly	51339	DACT1	ORPHA:63260
HP:0002323	Anencephaly	124997	WDR81	OMIM:617967
HP:0002323	Anencephaly	27238	GPKOW	ORPHA:2570
HP:0002323	Anencephaly	6628	SNRPB	ORPHA:1393
HP:0002323	Anencephaly	6913	TBX15	OMIM:260660
HP:0002323	Anencephaly	54820	NDE1	OMIM:605013
HP:0002323	Anencephaly	55165	CEP55	OMIM:236500
HP:0002323	Anencephaly	55640	FLVCR2	OMIM:225790
HP:0002323	Anencephaly	26227	PHGDH	OMIM:256520
HP:0002324	Hydranencephaly	124997	WDR81	OMIM:617967
HP:0002324	Hydranencephaly	27238	GPKOW	ORPHA:2570
HP:0002324	Hydranencephaly	6628	SNRPB	ORPHA:1393
HP:0002324	Hydranencephaly	6913	TBX15	OMIM:260660
HP:0002324	Hydranencephaly	54820	NDE1	OMIM:605013
HP:0002324	Hydranencephaly	55165	CEP55	OMIM:236500
HP:0002324	Hydranencephaly	55640	FLVCR2	OMIM:225790
HP:0002324	Hydranencephaly	26227	PHGDH	OMIM:256520
HP:0011449	Knee clonus	23111	SPART	OMIM:275900
HP:0011449	Knee clonus	57704	GBA2	OMIM:614409
HP:0011449	Knee clonus	3798	KIF5A	OMIM:604187
HP:0011449	Knee clonus	113278	SLC52A3	OMIM:211530
HP:0011449	Knee clonus	91574	MTRFR	OMIM:615035
HP:0011449	Knee clonus	80208	SPG11	OMIM:604360
HP:0011449	Knee clonus	6253	RTN2	OMIM:604805
HP:0002326	Transient ischemic attack	94	ACVRL1	OMIM:600376
HP:0002326	Transient ischemic attack	94	ACVRL1	ORPHA:774
HP:0002326	Transient ischemic attack	4854	NOTCH3	ORPHA:136
HP:0002326	Transient ischemic attack	2658	GDF2	ORPHA:774
HP:0002326	Transient ischemic attack	4089	SMAD4	ORPHA:774
HP:0002326	Transient ischemic attack	4089	SMAD4	ORPHA:91387
HP:0002326	Transient ischemic attack	2022	ENG	ORPHA:774
HP:0002326	Transient ischemic attack	2022	ENG	OMIM:187300
HP:0002326	Transient ischemic attack	2022	ENG	ORPHA:231160
HP:0002326	Transient ischemic attack	7092	TLL1	ORPHA:99103
HP:0002326	Transient ischemic attack	57057	TBX20	ORPHA:99103
HP:0002326	Transient ischemic attack	4624	MYH6	ORPHA:99103
HP:0002326	Transient ischemic attack	1482	NKX2-5	ORPHA:99103
HP:0002326	Transient ischemic attack	70	ACTC1	ORPHA:99103
HP:0002326	Transient ischemic attack	10370	CITED2	ORPHA:99103
HP:0002326	Transient ischemic attack	2626	GATA4	ORPHA:99103
HP:0002326	Transient ischemic attack	2627	GATA6	ORPHA:99103
HP:0002326	Transient ischemic attack	4352	MPL	ORPHA:71493
HP:0002326	Transient ischemic attack	4352	MPL	ORPHA:3318
HP:0002326	Transient ischemic attack	7066	THPO	ORPHA:71493
HP:0002326	Transient ischemic attack	3717	JAK2	ORPHA:71493
HP:0002326	Transient ischemic attack	3717	JAK2	ORPHA:3318
HP:0002326	Transient ischemic attack	4607	MYBPC3	OMIM:115197
HP:0002326	Transient ischemic attack	2717	GLA	OMIM:301500
HP:0002326	Transient ischemic attack	2717	GLA	ORPHA:324
HP:0002326	Transient ischemic attack	6651	SON	ORPHA:500150
HP:0002326	Transient ischemic attack	5167	ENPP1	ORPHA:51608
HP:0002326	Transient ischemic attack	368	ABCC6	ORPHA:51608
HP:0002326	Transient ischemic attack	71	ACTG1	ORPHA:2995
HP:0002326	Transient ischemic attack	60	ACTB	ORPHA:2995
HP:0002326	Transient ischemic attack	5654	HTRA1	OMIM:600142
HP:0002326	Transient ischemic attack	5654	HTRA1	OMIM:616779
HP:0002326	Transient ischemic attack	4000	LMNA	ORPHA:740
HP:0002326	Transient ischemic attack	10269	ZMPSTE24	ORPHA:740
HP:0002326	Transient ischemic attack	1281	COL3A1	ORPHA:286
HP:0002326	Transient ischemic attack	1281	COL3A1	ORPHA:231160
HP:0002326	Transient ischemic attack	3845	KRAS	OMIM:600268
HP:0002326	Transient ischemic attack	50485	SMARCAL1	ORPHA:1830
HP:0002326	Transient ischemic attack	50485	SMARCAL1	OMIM:242900
HP:0002326	Transient ischemic attack	10019	SH2B3	ORPHA:3318
HP:0002326	Transient ischemic attack	811	CALR	ORPHA:3318
HP:0002326	Transient ischemic attack	7157	TP53	ORPHA:3318
HP:0002326	Transient ischemic attack	54790	TET2	ORPHA:3318
HP:0002326	Transient ischemic attack	57674	RNF213	OMIM:607151
HP:0002326	Transient ischemic attack	11093	ADAMTS13	OMIM:274150
HP:0002326	Transient ischemic attack	4629	MYH11	ORPHA:91387
HP:0002326	Transient ischemic attack	7046	TGFBR1	ORPHA:91387
HP:0002326	Transient ischemic attack	7048	TGFBR2	ORPHA:91387
HP:0002326	Transient ischemic attack	4015	LOX	ORPHA:91387
HP:0002326	Transient ischemic attack	4087	SMAD2	ORPHA:91387
HP:0002326	Transient ischemic attack	7043	TGFB3	ORPHA:91387
HP:0002326	Transient ischemic attack	4088	SMAD3	ORPHA:91387
HP:0002326	Transient ischemic attack	7042	TGFB2	ORPHA:91387
HP:0002326	Transient ischemic attack	2200	FBN1	ORPHA:91387
HP:0002326	Transient ischemic attack	59	ACTA2	ORPHA:91387
HP:0002326	Transient ischemic attack	5592	PRKG1	ORPHA:91387
HP:0002326	Transient ischemic attack	2301	FOXE3	ORPHA:91387
HP:0002326	Transient ischemic attack	4144	MAT2A	ORPHA:91387
HP:0002326	Transient ischemic attack	23493	HEY2	ORPHA:91387
HP:0002326	Transient ischemic attack	8076	MFAP5	ORPHA:91387
HP:0002326	Transient ischemic attack	4638	MYLK	ORPHA:91387
HP:0002326	Transient ischemic attack	2006	ELN	ORPHA:91387
HP:0002326	Transient ischemic attack	55901	THSD1	ORPHA:231160
HP:0002326	Transient ischemic attack	7049	TGFBR3	ORPHA:231160
HP:0002326	Transient ischemic attack	83854	ANGPTL6	ORPHA:231160
HP:0001260	Dysarthria	5274	SERPINI1	OMIM:604218
HP:0001260	Dysarthria	10749	KIF1C	ORPHA:397946
HP:0001260	Dysarthria	10749	KIF1C	OMIM:611302
HP:0001260	Dysarthria	2673	GFPT1	OMIM:608931
HP:0001260	Dysarthria	1145	CHRNE	OMIM:608931
HP:0001260	Dysarthria	4287	ATXN3	OMIM:109150
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276238
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276244
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276241
HP:0001260	Dysarthria	23646	PLD3	OMIM:617770
HP:0001260	Dysarthria	55703	POLR3B	OMIM:614381
HP:0001260	Dysarthria	55703	POLR3B	OMIM:619742
HP:0001260	Dysarthria	55703	POLR3B	OMIM:607694
HP:0001260	Dysarthria	91452	ACBD5	OMIM:618863
HP:0001260	Dysarthria	4750	NEK1	OMIM:617892
HP:0001260	Dysarthria	23446	SLC44A1	OMIM:618868
HP:0001260	Dysarthria	2895	GRID2	OMIM:616204
HP:0001260	Dysarthria	60684	TRAPPC11	OMIM:615356
HP:0001260	Dysarthria	5238	PGM3	ORPHA:443811
HP:0001260	Dysarthria	5238	PGM3	OMIM:615816
HP:0001260	Dysarthria	9254	CACNA2D2	OMIM:618501
HP:0001260	Dysarthria	11284	PNKP	ORPHA:459033
HP:0001260	Dysarthria	55733	HHAT	OMIM:600092
HP:0001260	Dysarthria	1134	CHRNA1	OMIM:608930
HP:0001260	Dysarthria	1134	CHRNA1	OMIM:601462
HP:0001260	Dysarthria	5457	POU4F1	ORPHA:314647
HP:0001260	Dysarthria	5457	POU4F1	OMIM:619352
HP:0001260	Dysarthria	23261	CAMTA1	ORPHA:314647
HP:0001260	Dysarthria	23261	CAMTA1	OMIM:614756
HP:0001260	Dysarthria	5521	PPP2R2B	OMIM:604326
HP:0001260	Dysarthria	4072	EPCAM	ORPHA:144
HP:0001260	Dysarthria	4292	MLH1	ORPHA:144
HP:0001260	Dysarthria	5395	PMS2	ORPHA:144
HP:0001260	Dysarthria	27030	MLH3	ORPHA:144
HP:0001260	Dysarthria	22909	FAN1	ORPHA:144
HP:0001260	Dysarthria	7048	TGFBR2	ORPHA:144
HP:0001260	Dysarthria	3845	KRAS	ORPHA:144
HP:0001260	Dysarthria	3845	KRAS	ORPHA:648
HP:0001260	Dysarthria	3845	KRAS	ORPHA:1340
HP:0001260	Dysarthria	5290	PIK3CA	ORPHA:144
HP:0001260	Dysarthria	2956	MSH6	ORPHA:144
HP:0001260	Dysarthria	5378	PMS1	ORPHA:144
HP:0001260	Dysarthria	4436	MSH2	ORPHA:144
HP:0001260	Dysarthria	5631	PRPS1	ORPHA:99014
HP:0001260	Dysarthria	5354	PLP1	ORPHA:99015
HP:0001260	Dysarthria	5354	PLP1	ORPHA:280210
HP:0001260	Dysarthria	5354	PLP1	OMIM:312080
HP:0001260	Dysarthria	5354	PLP1	OMIM:312920
HP:0001260	Dysarthria	57165	GJC2	OMIM:608804
HP:0001260	Dysarthria	57165	GJC2	ORPHA:320401
HP:0001260	Dysarthria	57165	GJC2	OMIM:613206
HP:0001260	Dysarthria	3074	HEXB	ORPHA:309162
HP:0001260	Dysarthria	3074	HEXB	ORPHA:309169
HP:0001260	Dysarthria	3074	HEXB	OMIM:268800
HP:0001260	Dysarthria	5155	PDGFB	OMIM:615483
HP:0001260	Dysarthria	5155	PDGFB	OMIM:213600
HP:0001260	Dysarthria	8722	CTSF	OMIM:615362
HP:0001260	Dysarthria	5917	RARS1	ORPHA:438114
HP:0001260	Dysarthria	5917	RARS1	OMIM:616140
HP:0001260	Dysarthria	6616	SNAP25	OMIM:616330
HP:0001260	Dysarthria	10528	NOP56	OMIM:614153
HP:0001260	Dysarthria	10528	NOP56	ORPHA:276198
HP:0001260	Dysarthria	283489	CHAMP1	OMIM:616579
HP:0001260	Dysarthria	64218	SEMA4A	ORPHA:440437
HP:0001260	Dysarthria	657	BMPR1A	ORPHA:440437
HP:0001260	Dysarthria	6224	RPS20	ORPHA:440437
HP:0001260	Dysarthria	101060691	NUTM2B-AS1	OMIM:618637
HP:0001260	Dysarthria	2670	GFAP	OMIM:203450
HP:0001260	Dysarthria	2670	GFAP	ORPHA:363722
HP:0001260	Dysarthria	2670	GFAP	ORPHA:363717
HP:0001260	Dysarthria	472	ATM	OMIM:208900
HP:0001260	Dysarthria	472	ATM	ORPHA:100
HP:0001260	Dysarthria	5610	EIF2AK2	OMIM:618877
HP:0001260	Dysarthria	57156	TMEM63C	OMIM:619966
HP:0001260	Dysarthria	27102	EIF2AK1	OMIM:618878
HP:0001260	Dysarthria	1476	CSTB	OMIM:254800
HP:0001260	Dysarthria	1476	CSTB	ORPHA:308
HP:0001260	Dysarthria	1161	ERCC8	OMIM:216400
HP:0001260	Dysarthria	100996717	NOTCH2NLC	OMIM:603472
HP:0001260	Dysarthria	100996717	NOTCH2NLC	OMIM:619473
HP:0001260	Dysarthria	100996717	NOTCH2NLC	ORPHA:2289
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:314632
HP:0001260	Dysarthria	23400	ATP13A2	OMIM:617225
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:513436
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:306674
HP:0001260	Dysarthria	23400	ATP13A2	OMIM:606693
HP:0001260	Dysarthria	2192	FBLN1	ORPHA:404451
HP:0001260	Dysarthria	284403	WDR62	OMIM:604317
HP:0001260	Dysarthria	410	ARSA	ORPHA:309271
HP:0001260	Dysarthria	410	ARSA	ORPHA:309263
HP:0001260	Dysarthria	410	ARSA	OMIM:250100
HP:0001260	Dysarthria	410	ARSA	ORPHA:309256
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309271
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309263
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309256
HP:0001260	Dysarthria	5660	PSAP	OMIM:249900
HP:0001260	Dysarthria	10559	SLC35A1	OMIM:603585
HP:0001260	Dysarthria	146057	TTBK2	OMIM:604432
HP:0001260	Dysarthria	146057	TTBK2	ORPHA:98767
HP:0001260	Dysarthria	51816	ADA2	OMIM:182410
HP:0001260	Dysarthria	219285	SAMD9L	OMIM:159550
HP:0001260	Dysarthria	219285	SAMD9L	OMIM:619806
HP:0001260	Dysarthria	8575	PRKRA	ORPHA:210571
HP:0001260	Dysarthria	8575	PRKRA	OMIM:612067
HP:0001260	Dysarthria	348	APOE	OMIM:607822
HP:0001260	Dysarthria	5663	PSEN1	OMIM:607822
HP:0001260	Dysarthria	215	ABCD1	ORPHA:139399
HP:0001260	Dysarthria	215	ABCD1	ORPHA:139396
HP:0001260	Dysarthria	50484	RRM2B	OMIM:613077
HP:0001260	Dysarthria	50484	RRM2B	ORPHA:254892
HP:0001260	Dysarthria	50484	RRM2B	ORPHA:329336
HP:0001260	Dysarthria	64834	ELOVL1	OMIM:618527
HP:0001260	Dysarthria	10381	TUBB3	ORPHA:300570
HP:0001260	Dysarthria	7436	VLDLR	OMIM:224050
HP:0001260	Dysarthria	311	ANXA11	OMIM:619733
HP:0001260	Dysarthria	8560	DEGS1	OMIM:618404
HP:0001260	Dysarthria	85465	SELENOI	OMIM:618768
HP:0001260	Dysarthria	6513	SLC2A1	OMIM:601042
HP:0001260	Dysarthria	6513	SLC2A1	ORPHA:53583
HP:0001260	Dysarthria	6513	SLC2A1	ORPHA:71277
HP:0001260	Dysarthria	6513	SLC2A1	OMIM:606777
HP:0001260	Dysarthria	83480	PUS3	ORPHA:488627
HP:0001260	Dysarthria	2697	GJA1	ORPHA:2710
HP:0001260	Dysarthria	2697	GJA1	OMIM:164200
HP:0001260	Dysarthria	10049	DNAJB6	ORPHA:34516
HP:0001260	Dysarthria	343641	TGM6	ORPHA:276193
HP:0001260	Dysarthria	343641	TGM6	OMIM:613908
HP:0001260	Dysarthria	55149	MTPAP	ORPHA:254343
HP:0001260	Dysarthria	55149	MTPAP	OMIM:613672
HP:0001260	Dysarthria	10715	CERS1	OMIM:616230
HP:0001260	Dysarthria	84504	NKX6-2	OMIM:617560
HP:0001260	Dysarthria	84504	NKX6-2	ORPHA:527497
HP:0001260	Dysarthria	10935	PRDX3	OMIM:619862
HP:0001260	Dysarthria	23312	DMXL2	OMIM:616113
HP:0001260	Dysarthria	23312	DMXL2	ORPHA:453533
HP:0001260	Dysarthria	83636	C19orf12	OMIM:614298
HP:0001260	Dysarthria	83636	C19orf12	OMIM:615043
HP:0001260	Dysarthria	833	CARS1	OMIM:618891
HP:0001260	Dysarthria	833	CARS1	ORPHA:33364
HP:0001260	Dysarthria	246243	RNASEH1	OMIM:616479
HP:0001260	Dysarthria	246243	RNASEH1	ORPHA:329336
HP:0001260	Dysarthria	80208	SPG11	ORPHA:2822
HP:0001260	Dysarthria	80208	SPG11	OMIM:602099
HP:0001260	Dysarthria	80208	SPG11	OMIM:604360
HP:0001260	Dysarthria	51271	UBAP1	OMIM:618418
HP:0001260	Dysarthria	51761	ATP8A2	OMIM:615268
HP:0001260	Dysarthria	1201	CLN3	OMIM:204200
HP:0001260	Dysarthria	1201	CLN3	ORPHA:228346
HP:0001260	Dysarthria	54840	APTX	OMIM:208920
HP:0001260	Dysarthria	79731	NARS2	OMIM:616239
HP:0001260	Dysarthria	6905	TBCE	OMIM:617207
HP:0001260	Dysarthria	6905	TBCE	ORPHA:496756
HP:0001260	Dysarthria	284439	SLC25A42	OMIM:618416
HP:0001260	Dysarthria	950	SCARB2	OMIM:254900
HP:0001260	Dysarthria	950	SCARB2	ORPHA:308
HP:0001260	Dysarthria	4747	NEFL	ORPHA:101085
HP:0001260	Dysarthria	5373	PMM2	OMIM:212065
HP:0001260	Dysarthria	5192	PEX10	ORPHA:247815
HP:0001260	Dysarthria	5192	PEX10	OMIM:614871
HP:0001260	Dysarthria	477	ATP1A2	OMIM:602481
HP:0001260	Dysarthria	477	ATP1A2	ORPHA:569
HP:0001260	Dysarthria	477	ATP1A2	ORPHA:2131
HP:0001260	Dysarthria	9897	WASHC5	OMIM:603563
HP:0001260	Dysarthria	8398	PLA2G6	ORPHA:199351
HP:0001260	Dysarthria	8398	PLA2G6	OMIM:612953
HP:0001260	Dysarthria	8398	PLA2G6	OMIM:610217
HP:0001260	Dysarthria	8398	PLA2G6	ORPHA:35069
HP:0001260	Dysarthria	8622	PDE8B	ORPHA:228169
HP:0001260	Dysarthria	8622	PDE8B	OMIM:609161
HP:0001260	Dysarthria	253738	EBF3	OMIM:617330
HP:0001260	Dysarthria	9895	TECPR2	OMIM:615031
HP:0001260	Dysarthria	9895	TECPR2	ORPHA:320385
HP:0001260	Dysarthria	2911	GRM1	OMIM:617691
HP:0001260	Dysarthria	2911	GRM1	OMIM:614831
HP:0001260	Dysarthria	11277	TREX1	OMIM:192315
HP:0001260	Dysarthria	55773	TBC1D23	OMIM:617695
HP:0001260	Dysarthria	23259	DDHD2	OMIM:615033
HP:0001260	Dysarthria	23259	DDHD2	ORPHA:320380
HP:0001260	Dysarthria	55280	CWF19L1	OMIM:616127
HP:0001260	Dysarthria	55280	CWF19L1	ORPHA:453521
HP:0001260	Dysarthria	54902	TTC19	OMIM:615157
HP:0001260	Dysarthria	55823	VPS11	OMIM:619637
HP:0001260	Dysarthria	1822	ATN1	ORPHA:101
HP:0001260	Dysarthria	111	ADCY5	OMIM:606703
HP:0001260	Dysarthria	111	ADCY5	OMIM:619647
HP:0001260	Dysarthria	111	ADCY5	ORPHA:324588
HP:0001260	Dysarthria	4311	MME	ORPHA:497764
HP:0001260	Dysarthria	4311	MME	OMIM:617018
HP:0001260	Dysarthria	1615	DARS1	OMIM:615281
HP:0001260	Dysarthria	8733	GPAA1	ORPHA:529665
HP:0001260	Dysarthria	8733	GPAA1	OMIM:617810
HP:0001260	Dysarthria	9474	ATG5	OMIM:617584
HP:0001260	Dysarthria	2720	GLB1	OMIM:230650
HP:0001260	Dysarthria	50485	SMARCAL1	ORPHA:1830
HP:0001260	Dysarthria	1356	CP	ORPHA:48818
HP:0001260	Dysarthria	1356	CP	OMIM:604290
HP:0001260	Dysarthria	146227	BEAN1	ORPHA:217012
HP:0001260	Dysarthria	146227	BEAN1	OMIM:117210
HP:0001260	Dysarthria	57462	MYORG	OMIM:618317
HP:0001260	Dysarthria	2729	GCLC	ORPHA:33574
HP:0001260	Dysarthria	540	ATP7B	OMIM:277900
HP:0001260	Dysarthria	540	ATP7B	ORPHA:905
HP:0001260	Dysarthria	9711	RUBCN	ORPHA:404499
HP:0001260	Dysarthria	9711	RUBCN	OMIM:615705
HP:0001260	Dysarthria	6785	ELOVL4	ORPHA:1955
HP:0001260	Dysarthria	6785	ELOVL4	OMIM:133190
HP:0001260	Dysarthria	10743	RAI1	ORPHA:1713
HP:0001260	Dysarthria	10667	FARS2	ORPHA:466722
HP:0001260	Dysarthria	4854	NOTCH3	ORPHA:136
HP:0001260	Dysarthria	5981	RFC1	ORPHA:504476
HP:0001260	Dysarthria	5981	RFC1	OMIM:614575
HP:0001260	Dysarthria	1436	CSF1R	OMIM:221820
HP:0001260	Dysarthria	1436	CSF1R	OMIM:618476
HP:0001260	Dysarthria	7143	TNR	OMIM:619653
HP:0001260	Dysarthria	2395	FXN	OMIM:229300
HP:0001260	Dysarthria	2395	FXN	ORPHA:95
HP:0001260	Dysarthria	1107	CHD3	OMIM:618205
HP:0001260	Dysarthria	51322	WAC	ORPHA:466950
HP:0001260	Dysarthria	404672	GTF2H5	ORPHA:33364
HP:0001260	Dysarthria	2068	ERCC2	ORPHA:33364
HP:0001260	Dysarthria	2068	ERCC2	ORPHA:220295
HP:0001260	Dysarthria	7737	RNF113A	ORPHA:33364
HP:0001260	Dysarthria	136647	MPLKIP	ORPHA:33364
HP:0001260	Dysarthria	6897	TARS1	ORPHA:33364
HP:0001260	Dysarthria	2071	ERCC3	ORPHA:33364
HP:0001260	Dysarthria	2071	ERCC3	ORPHA:220295
HP:0001260	Dysarthria	2961	GTF2E2	ORPHA:33364
HP:0001260	Dysarthria	1967	EIF2B1	OMIM:603896
HP:0001260	Dysarthria	5654	HTRA1	OMIM:600142
HP:0001260	Dysarthria	85300	ATCAY	OMIM:601238
HP:0001260	Dysarthria	85300	ATCAY	ORPHA:94122
HP:0001260	Dysarthria	367	AR	ORPHA:481
HP:0001260	Dysarthria	367	AR	OMIM:313200
HP:0001260	Dysarthria	2512	FTL	ORPHA:157846
HP:0001260	Dysarthria	2512	FTL	OMIM:606159
HP:0001260	Dysarthria	26100	WIPI2	OMIM:618453
HP:0001260	Dysarthria	54903	MKS1	OMIM:617121
HP:0001260	Dysarthria	10533	ATG7	OMIM:619422
HP:0001260	Dysarthria	81570	CLPB	OMIM:616271
HP:0001260	Dysarthria	79734	KCTD17	OMIM:616398
HP:0001260	Dysarthria	120	ADD3	OMIM:617008
HP:0001260	Dysarthria	2583	B4GALNT1	OMIM:609195
HP:0001260	Dysarthria	4001	LMNB1	ORPHA:99027
HP:0001260	Dysarthria	7080	NKX2-1	OMIM:610978
HP:0001260	Dysarthria	7080	NKX2-1	ORPHA:209905
HP:0001260	Dysarthria	7080	NKX2-1	OMIM:118700
HP:0001260	Dysarthria	4594	MMUT	ORPHA:79312
HP:0001260	Dysarthria	2260	FGFR1	ORPHA:478
HP:0001260	Dysarthria	10371	SEMA3A	ORPHA:478
HP:0001260	Dysarthria	81848	SPRY4	ORPHA:478
HP:0001260	Dysarthria	23767	FLRT3	ORPHA:478
HP:0001260	Dysarthria	128674	PROKR2	ORPHA:478
HP:0001260	Dysarthria	79625	NDNF	ORPHA:478
HP:0001260	Dysarthria	2253	FGF8	ORPHA:478
HP:0001260	Dysarthria	389549	FEZF1	ORPHA:478
HP:0001260	Dysarthria	1630	DCC	ORPHA:478
HP:0001260	Dysarthria	3730	ANOS1	ORPHA:478
HP:0001260	Dysarthria	54756	IL17RD	ORPHA:478
HP:0001260	Dysarthria	6663	SOX10	ORPHA:478
HP:0001260	Dysarthria	285025	CCDC141	ORPHA:478
HP:0001260	Dysarthria	60675	PROK2	ORPHA:478
HP:0001260	Dysarthria	55636	CHD7	ORPHA:478
HP:0001260	Dysarthria	1848	DUSP6	ORPHA:478
HP:0001260	Dysarthria	6870	TACR3	ORPHA:478
HP:0001260	Dysarthria	55717	WDR11	ORPHA:478
HP:0001260	Dysarthria	9394	HS6ST1	ORPHA:478
HP:0001260	Dysarthria	8820	HESX1	ORPHA:478
HP:0001260	Dysarthria	8822	FGF17	ORPHA:478
HP:0001260	Dysarthria	2639	GCDH	ORPHA:25
HP:0001260	Dysarthria	291	SLC25A4	ORPHA:254892
HP:0001260	Dysarthria	5428	POLG	ORPHA:254892
HP:0001260	Dysarthria	5428	POLG	OMIM:258450
HP:0001260	Dysarthria	5428	POLG	OMIM:157640
HP:0001260	Dysarthria	5428	POLG	ORPHA:94125
HP:0001260	Dysarthria	5428	POLG	OMIM:607459
HP:0001260	Dysarthria	5428	POLG	ORPHA:70595
HP:0001260	Dysarthria	56652	TWNK	ORPHA:254892
HP:0001260	Dysarthria	56652	TWNK	OMIM:609286
HP:0001260	Dysarthria	56652	TWNK	OMIM:607459
HP:0001260	Dysarthria	56652	TWNK	ORPHA:70595
HP:0001260	Dysarthria	11232	POLG2	ORPHA:254892
HP:0001260	Dysarthria	353116	RILPL1	OMIM:619790
HP:0001260	Dysarthria	84706	GPT2	OMIM:616281
HP:0001260	Dysarthria	84706	GPT2	ORPHA:477673
HP:0001260	Dysarthria	3155	HMGCL	ORPHA:20
HP:0001260	Dysarthria	4728	NDUFS8	OMIM:618222
HP:0001260	Dysarthria	4728	NDUFS8	ORPHA:255241
HP:0001260	Dysarthria	374291	NDUFS7	OMIM:618224
HP:0001260	Dysarthria	374291	NDUFS7	ORPHA:255241
HP:0001260	Dysarthria	23345	SYNE1	ORPHA:88644
HP:0001260	Dysarthria	23345	SYNE1	OMIM:610743
HP:0001260	Dysarthria	79876	UBA5	OMIM:617133
HP:0001260	Dysarthria	4703	NEB	OMIM:256030
HP:0001260	Dysarthria	144165	PRICKLE1	ORPHA:308
HP:0001260	Dysarthria	144165	PRICKLE1	OMIM:612437
HP:0001260	Dysarthria	27235	COQ2	OMIM:146500
HP:0001260	Dysarthria	27235	COQ2	ORPHA:98933
HP:0001260	Dysarthria	27235	COQ2	ORPHA:227510
HP:0001260	Dysarthria	27235	COQ2	OMIM:607426
HP:0001260	Dysarthria	3708	ITPR1	ORPHA:208513
HP:0001260	Dysarthria	3708	ITPR1	OMIM:117360
HP:0001260	Dysarthria	3708	ITPR1	OMIM:606658
HP:0001260	Dysarthria	3208	HPCA	ORPHA:99657
HP:0001260	Dysarthria	3208	HPCA	OMIM:224500
HP:0001260	Dysarthria	170302	ARX	ORPHA:94083
HP:0001260	Dysarthria	170302	ARX	OMIM:309510
HP:0001260	Dysarthria	6548	SLC9A1	OMIM:616291
HP:0001260	Dysarthria	2581	GALC	ORPHA:206443
HP:0001260	Dysarthria	6567	SLC16A2	OMIM:300523
HP:0001260	Dysarthria	81790	RNF170	OMIM:619686
HP:0001260	Dysarthria	440193	CCDC88C	OMIM:616053
HP:0001260	Dysarthria	440193	CCDC88C	ORPHA:423275
HP:0001260	Dysarthria	478	ATP1A3	OMIM:601338
HP:0001260	Dysarthria	478	ATP1A3	OMIM:614820
HP:0001260	Dysarthria	478	ATP1A3	OMIM:128235
HP:0001260	Dysarthria	478	ATP1A3	ORPHA:2131
HP:0001260	Dysarthria	478	ATP1A3	ORPHA:71517
HP:0001260	Dysarthria	23114	NFASC	OMIM:618356
HP:0001260	Dysarthria	25814	ATXN10	OMIM:603516
HP:0001260	Dysarthria	25814	ATXN10	ORPHA:98761
HP:0001260	Dysarthria	55182	RNF220	OMIM:619688
HP:0001260	Dysarthria	63895	PIEZO2	OMIM:617146
HP:0001260	Dysarthria	8878	SQSTM1	OMIM:617145
HP:0001260	Dysarthria	8878	SQSTM1	ORPHA:275872
HP:0001260	Dysarthria	8878	SQSTM1	OMIM:616437
HP:0001260	Dysarthria	79133	NDUFAF5	OMIM:618238
HP:0001260	Dysarthria	79133	NDUFAF5	ORPHA:255241
HP:0001260	Dysarthria	137682	NDUFAF6	OMIM:618239
HP:0001260	Dysarthria	137682	NDUFAF6	ORPHA:255241
HP:0001260	Dysarthria	5010	CLDN11	OMIM:619328
HP:0001260	Dysarthria	154881	KCTD7	OMIM:611726
HP:0001260	Dysarthria	154881	KCTD7	ORPHA:263516
HP:0001260	Dysarthria	65055	REEP1	ORPHA:101011
HP:0001260	Dysarthria	65055	REEP1	OMIM:610250
HP:0001260	Dysarthria	5994	RFXAP	ORPHA:572
HP:0001260	Dysarthria	4261	CIITA	ORPHA:572
HP:0001260	Dysarthria	5993	RFX5	ORPHA:572
HP:0001260	Dysarthria	8625	RFXANK	ORPHA:572
HP:0001260	Dysarthria	7084	TK2	ORPHA:254875
HP:0001260	Dysarthria	7084	TK2	OMIM:617069
HP:0001260	Dysarthria	84340	GFM2	ORPHA:565624
HP:0001260	Dysarthria	84340	GFM2	OMIM:618397
HP:0001260	Dysarthria	56915	EXOSC5	OMIM:619576
HP:0001260	Dysarthria	4704	NDUFA9	OMIM:618247
HP:0001260	Dysarthria	4704	NDUFA9	ORPHA:255241
HP:0001260	Dysarthria	29978	UBQLN2	OMIM:300857
HP:0001260	Dysarthria	4125	MAN2B1	OMIM:248500
HP:0001260	Dysarthria	80224	NUBPL	OMIM:618242
HP:0001260	Dysarthria	267010	RNU12	OMIM:620208
HP:0001260	Dysarthria	267010	RNU12	ORPHA:512260
HP:0001260	Dysarthria	54834	GDAP2	OMIM:618369
HP:0001260	Dysarthria	116442	RAB39B	OMIM:311510
HP:0001260	Dysarthria	23203	PMPCA	OMIM:213200
HP:0001260	Dysarthria	23203	PMPCA	ORPHA:1170
HP:0001260	Dysarthria	549	AUH	OMIM:250950
HP:0001260	Dysarthria	4864	NPC1	OMIM:257220
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:569
HP:0001260	Dysarthria	773	CACNA1A	OMIM:183086
HP:0001260	Dysarthria	773	CACNA1A	OMIM:108500
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:97
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:2131
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:98758
HP:0001260	Dysarthria	112476	PRRT2	ORPHA:569
HP:0001260	Dysarthria	6323	SCN1A	ORPHA:569
HP:0001260	Dysarthria	4547	MTTP	ORPHA:14
HP:0001260	Dysarthria	7703	PCGF2	OMIM:618371
HP:0001260	Dysarthria	1781	DYNC1I2	OMIM:618492
HP:0001260	Dysarthria	51102	MECR	OMIM:617282
HP:0001260	Dysarthria	51102	MECR	ORPHA:508093
HP:0001260	Dysarthria	5903	RANBP2	ORPHA:88619
HP:0001260	Dysarthria	6712	SPTBN2	OMIM:600224
HP:0001260	Dysarthria	6712	SPTBN2	ORPHA:352403
HP:0001260	Dysarthria	2332	FMR1	OMIM:300623
HP:0001260	Dysarthria	2332	FMR1	ORPHA:93256
HP:0001260	Dysarthria	9757	KMT2B	OMIM:617284
HP:0001260	Dysarthria	9757	KMT2B	ORPHA:589618
HP:0001260	Dysarthria	1814	DRD3	OMIM:190300
HP:0001260	Dysarthria	127833	SYT2	OMIM:619461
HP:0001260	Dysarthria	4700	NDUFA6	OMIM:618253
HP:0001260	Dysarthria	1200	TPP1	OMIM:609270
HP:0001260	Dysarthria	1200	TPP1	ORPHA:284324
HP:0001260	Dysarthria	6304	SATB1	OMIM:619228
HP:0001260	Dysarthria	6304	SATB1	OMIM:619229
HP:0001260	Dysarthria	84668	HYCC1	OMIM:610532
HP:0001260	Dysarthria	2065	ERBB3	OMIM:243180
HP:0001260	Dysarthria	64374	SIL1	ORPHA:559
HP:0001260	Dysarthria	64374	SIL1	OMIM:248800
HP:0001260	Dysarthria	51763	INPP5K	ORPHA:559
HP:0001260	Dysarthria	220296	HEPACAM	OMIM:613925
HP:0001260	Dysarthria	6697	SPR	OMIM:612716
HP:0001260	Dysarthria	3028	HSD17B10	ORPHA:391428
HP:0001260	Dysarthria	3028	HSD17B10	OMIM:300438
HP:0001260	Dysarthria	1938	EEF2	ORPHA:101112
HP:0001260	Dysarthria	1938	EEF2	OMIM:609306
HP:0001260	Dysarthria	84265	POLR3GL	OMIM:619234
HP:0001260	Dysarthria	65260	COA7	OMIM:618387
HP:0001260	Dysarthria	27107	ZBTB11	OMIM:618383
HP:0001260	Dysarthria	64849	SLC13A3	OMIM:618384
HP:0001260	Dysarthria	10846	PDE10A	ORPHA:494526
HP:0001260	Dysarthria	10846	PDE10A	OMIM:616921
HP:0001260	Dysarthria	7415	VCP	ORPHA:435387
HP:0001260	Dysarthria	7415	VCP	OMIM:613954
HP:0001260	Dysarthria	7415	VCP	ORPHA:275872
HP:0001260	Dysarthria	4361	MRE11	ORPHA:251347
HP:0001260	Dysarthria	4361	MRE11	OMIM:604391
HP:0001260	Dysarthria	7345	UCHL1	OMIM:620221
HP:0001260	Dysarthria	246329	STAC3	ORPHA:168572
HP:0001260	Dysarthria	378884	NHLRC1	ORPHA:501
HP:0001260	Dysarthria	7957	EPM2A	ORPHA:501
HP:0001260	Dysarthria	7504	XK	OMIM:300842
HP:0001260	Dysarthria	128240	NAXE	OMIM:617186
HP:0001260	Dysarthria	23230	VPS13A	OMIM:200150
HP:0001260	Dysarthria	23230	VPS13A	ORPHA:2388
HP:0001260	Dysarthria	5173	PDYN	ORPHA:101108
HP:0001260	Dysarthria	5173	PDYN	OMIM:610245
HP:0001260	Dysarthria	55145	THAP1	OMIM:602629
HP:0001260	Dysarthria	55145	THAP1	ORPHA:98806
HP:0001260	Dysarthria	79152	FA2H	ORPHA:171629
HP:0001260	Dysarthria	79152	FA2H	ORPHA:329308
HP:0001260	Dysarthria	79152	FA2H	OMIM:612319
HP:0001260	Dysarthria	2799	GNS	OMIM:252940
HP:0001260	Dysarthria	26278	SACS	OMIM:270550
HP:0001260	Dysarthria	26278	SACS	ORPHA:98
HP:0001260	Dysarthria	4508	MT-ATP6	ORPHA:225154
HP:0001260	Dysarthria	23636	NUP62	ORPHA:225154
HP:0001260	Dysarthria	103	ADAR	ORPHA:225154
HP:0001260	Dysarthria	6571	SLC18A2	OMIM:618049
HP:0001260	Dysarthria	6571	SLC18A2	ORPHA:352649
HP:0001260	Dysarthria	3739	KCNA4	OMIM:618284
HP:0001260	Dysarthria	2733	GLE1	OMIM:611890
HP:0001260	Dysarthria	10273	STUB1	ORPHA:412057
HP:0001260	Dysarthria	10273	STUB1	OMIM:618093
HP:0001260	Dysarthria	10273	STUB1	OMIM:615768
HP:0001260	Dysarthria	727676	SNORD118	ORPHA:542310
HP:0001260	Dysarthria	727676	SNORD118	OMIM:614561
HP:0001260	Dysarthria	9997	SCO2	ORPHA:521411
HP:0001260	Dysarthria	22800	RRAS2	ORPHA:648
HP:0001260	Dysarthria	867	CBL	ORPHA:648
HP:0001260	Dysarthria	8216	LZTR1	ORPHA:648
HP:0001260	Dysarthria	6016	RIT1	ORPHA:648
HP:0001260	Dysarthria	6237	RRAS	ORPHA:648
HP:0001260	Dysarthria	5894	RAF1	ORPHA:648
HP:0001260	Dysarthria	22808	MRAS	ORPHA:648
HP:0001260	Dysarthria	200734	SPRED2	ORPHA:648
HP:0001260	Dysarthria	4893	NRAS	ORPHA:648
HP:0001260	Dysarthria	6654	SOS1	ORPHA:648
HP:0001260	Dysarthria	6655	SOS2	ORPHA:648
HP:0001260	Dysarthria	5781	PTPN11	ORPHA:648
HP:0001260	Dysarthria	5922	RASA2	ORPHA:648
HP:0001260	Dysarthria	81615	TMEM163	OMIM:620243
HP:0001260	Dysarthria	5216	PFN1	OMIM:614808
HP:0001260	Dysarthria	54936	ADPRS	OMIM:618170
HP:0001260	Dysarthria	899	CCNF	OMIM:619141
HP:0001260	Dysarthria	129285	PPP1R21	OMIM:619383
HP:0001260	Dysarthria	80704	SLC19A3	ORPHA:263410
HP:0001260	Dysarthria	80704	SLC19A3	OMIM:607483
HP:0001260	Dysarthria	80704	SLC19A3	ORPHA:255241
HP:0001260	Dysarthria	27072	VPS41	OMIM:619389
HP:0001260	Dysarthria	27072	VPS41	ORPHA:95434
HP:0001260	Dysarthria	284361	EMC10	OMIM:619264
HP:0001260	Dysarthria	25793	FBXO7	OMIM:260300
HP:0001260	Dysarthria	341208	HEPHL1	OMIM:261990
HP:0001260	Dysarthria	2747	GLUD2	OMIM:168600
HP:0001260	Dysarthria	126	ADH1C	OMIM:168600
HP:0001260	Dysarthria	2629	GBA1	OMIM:168600
HP:0001260	Dysarthria	4929	NR4A2	OMIM:168600
HP:0001260	Dysarthria	6908	TBP	OMIM:168600
HP:0001260	Dysarthria	6908	TBP	OMIM:607136
HP:0001260	Dysarthria	4576	MT-TT	OMIM:168600
HP:0001260	Dysarthria	9627	SNCAIP	OMIM:168600
HP:0001260	Dysarthria	6311	ATXN2	OMIM:168600
HP:0001260	Dysarthria	6311	ATXN2	OMIM:183090
HP:0001260	Dysarthria	6311	ATXN2	ORPHA:98756
HP:0001260	Dysarthria	4771	NF2	ORPHA:637
HP:0001260	Dysarthria	6622	SNCA	OMIM:168601
HP:0001260	Dysarthria	50640	PNPLA8	OMIM:251950
HP:0001260	Dysarthria	1639	DCTN1	OMIM:168605
HP:0001260	Dysarthria	1639	DCTN1	OMIM:105400
HP:0001260	Dysarthria	55129	ANO10	OMIM:613728
HP:0001260	Dysarthria	55129	ANO10	ORPHA:284289
HP:0001260	Dysarthria	60481	ELOVL5	ORPHA:423296
HP:0001260	Dysarthria	60481	ELOVL5	OMIM:615957
HP:0001260	Dysarthria	8085	KMT2D	OMIM:147920
HP:0001260	Dysarthria	7403	KDM6A	OMIM:147920
HP:0001260	Dysarthria	4352	MPL	ORPHA:71493
HP:0001260	Dysarthria	7066	THPO	ORPHA:71493
HP:0001260	Dysarthria	3717	JAK2	ORPHA:71493
HP:0001260	Dysarthria	2643	GCH1	OMIM:128230
HP:0001260	Dysarthria	23769	FLRT1	ORPHA:320406
HP:0001260	Dysarthria	64837	KLC2	ORPHA:320406
HP:0001260	Dysarthria	64837	KLC2	OMIM:609541
HP:0001260	Dysarthria	91574	MTRFR	ORPHA:254930
HP:0001260	Dysarthria	91574	MTRFR	OMIM:613559
HP:0001260	Dysarthria	23019	CNOT1	OMIM:619033
HP:0001260	Dysarthria	55532	SLC30A10	ORPHA:309854
HP:0001260	Dysarthria	55532	SLC30A10	OMIM:613280
HP:0001260	Dysarthria	9782	MATR3	OMIM:606070
HP:0001260	Dysarthria	9782	MATR3	ORPHA:600
HP:0001260	Dysarthria	400916	CHCHD10	OMIM:615911
HP:0001260	Dysarthria	400916	CHCHD10	ORPHA:275872
HP:0001260	Dysarthria	785	CACNB4	OMIM:613855
HP:0001260	Dysarthria	785	CACNB4	ORPHA:211067
HP:0001260	Dysarthria	785	CACNB4	OMIM:607682
HP:0001260	Dysarthria	2521	FUS	ORPHA:275872
HP:0001260	Dysarthria	23435	TARDBP	ORPHA:275872
HP:0001260	Dysarthria	23435	TARDBP	OMIM:612069
HP:0001260	Dysarthria	29110	TBK1	ORPHA:275872
HP:0001260	Dysarthria	29110	TBK1	OMIM:616439
HP:0001260	Dysarthria	5111	PCNA	OMIM:615919
HP:0001260	Dysarthria	25914	RTTN	OMIM:614833
HP:0001260	Dysarthria	25914	RTTN	ORPHA:468631
HP:0001260	Dysarthria	9640	ZNF592	ORPHA:83472
HP:0001260	Dysarthria	84942	WDR73	ORPHA:83472
HP:0001260	Dysarthria	224	ALDH3A2	ORPHA:816
HP:0001260	Dysarthria	10847	SRCAP	ORPHA:2044
HP:0001260	Dysarthria	6507	SLC1A3	OMIM:612656
HP:0001260	Dysarthria	6507	SLC1A3	ORPHA:2131
HP:0001260	Dysarthria	54476	RNF216	OMIM:212840
HP:0001260	Dysarthria	51324	SPG21	OMIM:248900
HP:0001260	Dysarthria	3736	KCNA1	ORPHA:972
HP:0001260	Dysarthria	3736	KCNA1	OMIM:160120
HP:0001260	Dysarthria	3736	KCNA1	ORPHA:37612
HP:0001260	Dysarthria	51204	TACO1	OMIM:619052
HP:0001260	Dysarthria	51204	TACO1	ORPHA:255241
HP:0001260	Dysarthria	116228	COX20	OMIM:619054
HP:0001260	Dysarthria	64207	IRF2BPL	OMIM:618088
HP:0001260	Dysarthria	274	BIN1	OMIM:255200
HP:0001260	Dysarthria	274	BIN1	ORPHA:169186
HP:0001260	Dysarthria	55157	DARS2	ORPHA:137898
HP:0001260	Dysarthria	55157	DARS2	OMIM:611105
HP:0001260	Dysarthria	93986	FOXP2	ORPHA:209908
HP:0001260	Dysarthria	6575	SLC20A2	OMIM:213600
HP:0001260	Dysarthria	5159	PDGFRB	OMIM:213600
HP:0001260	Dysarthria	29967	LRP12	OMIM:164310
HP:0001260	Dysarthria	9570	GOSR2	OMIM:620166
HP:0001260	Dysarthria	9570	GOSR2	OMIM:614018
HP:0001260	Dysarthria	7276	TTR	OMIM:105210
HP:0001260	Dysarthria	55187	VPS13D	ORPHA:95434
HP:0001260	Dysarthria	55187	VPS13D	OMIM:607317
HP:0001260	Dysarthria	823	CAPN1	OMIM:616907
HP:0001260	Dysarthria	823	CAPN1	ORPHA:488594
HP:0001260	Dysarthria	84334	COA8	OMIM:619061
HP:0001260	Dysarthria	22	ABCB7	OMIM:301310
HP:0001260	Dysarthria	1678	TIMM8A	OMIM:304700
HP:0001260	Dysarthria	7274	TTPA	ORPHA:96
HP:0001260	Dysarthria	7274	TTPA	OMIM:277460
HP:0001260	Dysarthria	57531	HACE1	ORPHA:464282
HP:0001260	Dysarthria	7466	WFS1	OMIM:222300
HP:0001260	Dysarthria	7466	WFS1	ORPHA:3463
HP:0001260	Dysarthria	7156	TOP3A	OMIM:618098
HP:0001260	Dysarthria	4591	TRIM37	OMIM:253250
HP:0001260	Dysarthria	26090	ABHD12	OMIM:612674
HP:0001260	Dysarthria	60	ACTB	OMIM:607371
HP:0001260	Dysarthria	1600	DAB1	OMIM:615945
HP:0001260	Dysarthria	4598	MVK	OMIM:610377
HP:0001260	Dysarthria	10382	TUBB4A	OMIM:612438
HP:0001260	Dysarthria	57465	TBC1D24	OMIM:608105
HP:0001260	Dysarthria	57465	TBC1D24	ORPHA:352582
HP:0001260	Dysarthria	57465	TBC1D24	OMIM:605021
HP:0001260	Dysarthria	2259	FGF14	OMIM:620174
HP:0001260	Dysarthria	2259	FGF14	ORPHA:98764
HP:0001260	Dysarthria	2259	FGF14	OMIM:193003
HP:0001260	Dysarthria	3475	IFRD1	ORPHA:98771
HP:0001260	Dysarthria	3752	KCND3	ORPHA:98772
HP:0001260	Dysarthria	3752	KCND3	OMIM:607346
HP:0001260	Dysarthria	339453	TMEM240	ORPHA:98773
HP:0001260	Dysarthria	339453	TMEM240	OMIM:607454
HP:0001260	Dysarthria	84138	SLC7A6OS	OMIM:619191
HP:0001260	Dysarthria	1593	CYP27A1	ORPHA:909
HP:0001260	Dysarthria	27286	SRPX2	ORPHA:163721
HP:0001260	Dysarthria	27286	SRPX2	ORPHA:98889
HP:0001260	Dysarthria	2903	GRIN2A	ORPHA:163721
HP:0001260	Dysarthria	5828	PEX2	OMIM:614867
HP:0001260	Dysarthria	6804	STX1A	ORPHA:904
HP:0001260	Dysarthria	7461	CLIP2	ORPHA:904
HP:0001260	Dysarthria	84277	DNAJC30	ORPHA:904
HP:0001260	Dysarthria	8468	FKBP6	ORPHA:904
HP:0001260	Dysarthria	5982	RFC2	ORPHA:904
HP:0001260	Dysarthria	2969	GTF2I	ORPHA:904
HP:0001260	Dysarthria	3984	LIMK1	ORPHA:904
HP:0001260	Dysarthria	9569	GTF2IRD1	ORPHA:904
HP:0001260	Dysarthria	155382	VPS37D	ORPHA:904
HP:0001260	Dysarthria	155368	METTL27	ORPHA:904
HP:0001260	Dysarthria	114049	BUD23	ORPHA:904
HP:0001260	Dysarthria	7458	EIF4H	ORPHA:904
HP:0001260	Dysarthria	84163	GTF2IRD2	ORPHA:904
HP:0001260	Dysarthria	9275	BCL7B	ORPHA:904
HP:0001260	Dysarthria	26608	TBL2	ORPHA:904
HP:0001260	Dysarthria	653361	NCF1	ORPHA:904
HP:0001260	Dysarthria	135886	TMEM270	ORPHA:904
HP:0001260	Dysarthria	51085	MLXIPL	ORPHA:904
HP:0001260	Dysarthria	9031	BAZ1B	ORPHA:904
HP:0001260	Dysarthria	2006	ELN	ORPHA:904
HP:0001260	Dysarthria	3211	HOXB1	OMIM:614744
HP:0001260	Dysarthria	90624	LYRM7	OMIM:615838
HP:0001260	Dysarthria	3748	KCNC3	ORPHA:98768
HP:0001260	Dysarthria	3748	KCNC3	OMIM:605259
HP:0001260	Dysarthria	9289	ADGRG1	ORPHA:98889
HP:0001260	Dysarthria	5297	PI4KA	ORPHA:98889
HP:0001260	Dysarthria	493856	CISD2	ORPHA:3463
HP:0001260	Dysarthria	80067	DCAF17	ORPHA:3464
HP:0001260	Dysarthria	80067	DCAF17	OMIM:241080
HP:0001260	Dysarthria	5582	PRKCG	ORPHA:98763
HP:0001260	Dysarthria	5582	PRKCG	OMIM:605361
HP:0001260	Dysarthria	80025	PANK2	OMIM:234200
HP:0001260	Dysarthria	80025	PANK2	OMIM:607236
HP:0001260	Dysarthria	80025	PANK2	ORPHA:216873
HP:0001260	Dysarthria	80025	PANK2	ORPHA:216866
HP:0001260	Dysarthria	25894	PLEKHG4	ORPHA:98765
HP:0001260	Dysarthria	10613	ERLIN1	ORPHA:401785
HP:0001260	Dysarthria	10613	ERLIN1	OMIM:615681
HP:0001260	Dysarthria	23503	ZFYVE26	OMIM:270700
HP:0001260	Dysarthria	23503	ZFYVE26	ORPHA:100996
HP:0001260	Dysarthria	3251	HPRT1	OMIM:300322
HP:0001260	Dysarthria	2934	GSN	ORPHA:85448
HP:0001260	Dysarthria	255928	SYT14	ORPHA:284271
HP:0001260	Dysarthria	255928	SYT14	OMIM:614229
HP:0001260	Dysarthria	9409	PEX16	OMIM:614877
HP:0001260	Dysarthria	84919	PPP1R15B	OMIM:616817
HP:0001260	Dysarthria	8106	PABPN1	OMIM:164300
HP:0001260	Dysarthria	6310	ATXN1	ORPHA:98755
HP:0001260	Dysarthria	6310	ATXN1	OMIM:164400
HP:0001260	Dysarthria	2937	GSS	OMIM:266130
HP:0001260	Dysarthria	51741	WWOX	ORPHA:284282
HP:0001260	Dysarthria	51741	WWOX	OMIM:614322
HP:0001260	Dysarthria	6611	SMS	OMIM:309583
HP:0001260	Dysarthria	10133	OPTN	OMIM:613435
HP:0001260	Dysarthria	2146	EZH2	OMIM:277590
HP:0001260	Dysarthria	10815	CPLX1	ORPHA:352582
HP:0001260	Dysarthria	200403	VWA3B	OMIM:616948
HP:0001260	Dysarthria	85021	REPS1	OMIM:617916
HP:0001260	Dysarthria	4556	MT-TE	ORPHA:2596
HP:0001260	Dysarthria	6314	ATXN7	ORPHA:94147
HP:0001260	Dysarthria	6314	ATXN7	OMIM:164500
HP:0001260	Dysarthria	80199	FUZ	ORPHA:1136
HP:0001260	Dysarthria	80207	OPA3	OMIM:258501
HP:0001260	Dysarthria	80207	OPA3	ORPHA:67047
HP:0001260	Dysarthria	55690	PACS1	ORPHA:329224
HP:0001260	Dysarthria	51308	REEP2	OMIM:615625
HP:0001260	Dysarthria	79628	SH3TC2	ORPHA:99949
HP:0001260	Dysarthria	23064	SETX	OMIM:606002
HP:0001260	Dysarthria	1861	TOR1A	OMIM:128100
HP:0001260	Dysarthria	4976	OPA1	OMIM:210000
HP:0001260	Dysarthria	8729	GBF1	OMIM:606483
HP:0001260	Dysarthria	10290	SPEG	ORPHA:169186
HP:0001260	Dysarthria	6261	RYR1	ORPHA:169186
HP:0001260	Dysarthria	7273	TTN	ORPHA:169186
HP:0001260	Dysarthria	51062	ATL1	ORPHA:100984
HP:0001260	Dysarthria	55906	ZC4H2	OMIM:301041
HP:0001260	Dysarthria	6683	SPAST	ORPHA:100985
HP:0001260	Dysarthria	9420	CYP7B1	ORPHA:100986
HP:0001260	Dysarthria	9420	CYP7B1	OMIM:270800
HP:0001260	Dysarthria	5193	PEX12	OMIM:266510
HP:0001260	Dysarthria	124997	WDR81	OMIM:610185
HP:0001260	Dysarthria	9698	PUM1	OMIM:617931
HP:0001260	Dysarthria	6334	SCN8A	OMIM:614306
HP:0001260	Dysarthria	23600	AMACR	OMIM:614307
HP:0001260	Dysarthria	125988	MICOS13	ORPHA:67047
HP:0001260	Dysarthria	473	RERE	OMIM:616975
HP:0001260	Dysarthria	80347	COASY	OMIM:615643
HP:0001260	Dysarthria	80347	COASY	ORPHA:397725
HP:0001260	Dysarthria	57505	AARS2	OMIM:615889
HP:0001260	Dysarthria	767	CA8	OMIM:613227
HP:0001260	Dysarthria	9829	DNAJC6	OMIM:615528
HP:0001260	Dysarthria	26224	FBXL3	OMIM:606220
HP:0001260	Dysarthria	2592	GALT	ORPHA:79239
HP:0001260	Dysarthria	25953	PNKD	OMIM:118800
HP:0001260	Dysarthria	8867	SYNJ1	OMIM:615530
HP:0001260	Dysarthria	116150	NUS1	OMIM:617831
HP:0001260	Dysarthria	10352	WARS2	OMIM:617710
HP:0001260	Dysarthria	6331	SCN5A	ORPHA:1344
HP:0001260	Dysarthria	4878	NPPA	ORPHA:1344
HP:0001260	Dysarthria	2058	EPRS1	OMIM:617951
HP:0001260	Dysarthria	54974	THG1L	OMIM:618800
HP:0001260	Dysarthria	5604	MAP2K1	ORPHA:1340
HP:0001260	Dysarthria	5605	MAP2K2	ORPHA:1340
HP:0001260	Dysarthria	673	BRAF	ORPHA:1340
HP:0001260	Dysarthria	1737	DLAT	ORPHA:79244
HP:0001260	Dysarthria	20	ABCA2	OMIM:618808
HP:0001260	Dysarthria	9217	VAPB	OMIM:608627
HP:0001260	Dysarthria	1641	DCX	OMIM:300067
HP:0001260	Dysarthria	54664	TMEM106B	OMIM:617964
HP:0001260	Dysarthria	128989	TANGO2	OMIM:616878
HP:0001260	Dysarthria	27010	TPK1	OMIM:614458
HP:0001260	Dysarthria	57338	JPH3	OMIM:606438
HP:0001260	Dysarthria	953	ENTPD1	ORPHA:401810
HP:0001260	Dysarthria	953	ENTPD1	OMIM:615683
HP:0001260	Dysarthria	56978	PRDM8	OMIM:616640
HP:0001260	Dysarthria	56978	PRDM8	ORPHA:324290
HP:0001260	Dysarthria	58494	JAM2	OMIM:618824
HP:0001260	Dysarthria	22934	RPIA	OMIM:608611
HP:0001260	Dysarthria	203228	C9orf72	OMIM:105550
HP:0001260	Dysarthria	7343	UBTF	ORPHA:500180
HP:0001260	Dysarthria	26503	SLC17A5	OMIM:604369
HP:0001260	Dysarthria	9213	XPR1	OMIM:616413
HP:0001260	Dysarthria	2890	GRIA1	OMIM:619927
HP:0001260	Dysarthria	3295	HSD17B4	OMIM:233400
HP:0001260	Dysarthria	2073	ERCC5	ORPHA:220295
HP:0001260	Dysarthria	2072	ERCC4	ORPHA:220295
HP:0001260	Dysarthria	9499	MYOT	ORPHA:98911
HP:0001260	Dysarthria	8292	COLQ	OMIM:603034
HP:0001260	Dysarthria	6389	SDHA	ORPHA:255241
HP:0001260	Dysarthria	91942	NDUFAF2	ORPHA:255241
HP:0001260	Dysarthria	6834	SURF1	ORPHA:255241
HP:0001260	Dysarthria	4723	NDUFV1	ORPHA:255241
HP:0001260	Dysarthria	55572	FOXRED1	ORPHA:255241
HP:0001260	Dysarthria	4729	NDUFV2	ORPHA:255241
HP:0001260	Dysarthria	55967	NDUFA12	ORPHA:255241
HP:0001260	Dysarthria	4720	NDUFS2	ORPHA:255241
HP:0001260	Dysarthria	4724	NDUFS4	ORPHA:255241
HP:0001260	Dysarthria	4722	NDUFS3	ORPHA:255241
HP:0001260	Dysarthria	5160	PDHA1	ORPHA:255241
HP:0001260	Dysarthria	100131801	PET100	ORPHA:255241
HP:0001260	Dysarthria	1355	COX15	ORPHA:255241
HP:0001260	Dysarthria	1892	ECHS1	ORPHA:255241
HP:0001260	Dysarthria	123263	MTFMT	ORPHA:255241
HP:0001260	Dysarthria	51079	NDUFA13	ORPHA:255241
HP:0001260	Dysarthria	4705	NDUFA10	ORPHA:255241
HP:0001260	Dysarthria	51601	LIPT1	ORPHA:255241
HP:0001260	Dysarthria	4719	NDUFS1	ORPHA:255241
HP:0001260	Dysarthria	4695	NDUFA2	ORPHA:255241
HP:0001260	Dysarthria	4697	NDUFA4	ORPHA:255241
HP:0001260	Dysarthria	10577	NPC2	OMIM:607625
HP:0001260	Dysarthria	54888	NSUN2	OMIM:611091
HP:0001260	Dysarthria	210	ALAD	ORPHA:100924
HP:0001260	Dysarthria	8913	CACNA1G	ORPHA:458803
HP:0001260	Dysarthria	8913	CACNA1G	OMIM:616795
HP:0001260	Dysarthria	7518	XRCC4	OMIM:616541
HP:0001260	Dysarthria	1203	CLN5	OMIM:256731
HP:0001260	Dysarthria	7515	XRCC1	OMIM:617633
HP:0001260	Dysarthria	23533	PIK3R5	OMIM:615217
HP:0001260	Dysarthria	51684	SUFU	OMIM:617757
HP:0001260	Dysarthria	23389	MED13L	OMIM:616789
HP:0001260	Dysarthria	8086	AAAS	OMIM:231550
HP:0001260	Dysarthria	8139	GAN	OMIM:256850
HP:0001260	Dysarthria	131669	UROC1	ORPHA:210128
HP:0001260	Dysarthria	80169	CTC1	OMIM:612199
HP:0001260	Dysarthria	2196	FAT2	OMIM:617769
HP:0001260	Dysarthria	6647	SOD1	OMIM:105400
HP:0001260	Dysarthria	5630	PRPH	OMIM:105400
HP:0001260	Dysarthria	4744	NEFH	OMIM:105400
HP:0001260	Dysarthria	25782	RAB3GAP2	ORPHA:401830
HP:0001260	Dysarthria	5621	PRNP	ORPHA:282166
HP:0001260	Dysarthria	10717	AP4B1	ORPHA:280763
HP:0001260	Dysarthria	9179	AP4M1	ORPHA:280763
HP:0001260	Dysarthria	11154	AP4S1	ORPHA:280763
HP:0001260	Dysarthria	23431	AP4E1	ORPHA:280763
HP:0001260	Dysarthria	87178	PNPT1	ORPHA:101111
HP:0001260	Dysarthria	4099	MAG	OMIM:616680
HP:0001260	Dysarthria	57679	ALS2	OMIM:205100
HP:0001260	Dysarthria	57679	ALS2	OMIM:606353
HP:0001260	Dysarthria	57679	ALS2	ORPHA:247604
HP:0001260	Dysarthria	4137	MAPT	ORPHA:240094
HP:0001260	Dysarthria	57704	GBA2	ORPHA:352641
HP:0001260	Dysarthria	57704	GBA2	ORPHA:320391
HP:0001260	Dysarthria	55775	TDP1	ORPHA:94124
HP:0001260	Dysarthria	5190	PEX6	ORPHA:95433
HP:0001260	Dysarthria	92935	MARS2	ORPHA:314603
HP:0001260	Dysarthria	5832	ALDH18A1	ORPHA:447757
HP:0001260	Dysarthria	5832	ALDH18A1	ORPHA:447753
HP:0001260	Dysarthria	11160	ERLIN2	ORPHA:247604
HP:0001260	Dysarthria	10939	AFG3L2	ORPHA:313772
HP:0001260	Dysarthria	6843	VAMP1	ORPHA:251282
HP:0001260	Dysarthria	84188	FAR1	ORPHA:447753
HP:0001260	Dysarthria	11128	POLR3A	ORPHA:447896
HP:0001260	Dysarthria	724066	ATXN8	ORPHA:98760
HP:0001260	Dysarthria	6315	ATXN8OS	ORPHA:98760
HP:0001260	Dysarthria	23111	SPART	ORPHA:101000
HP:0001260	Dysarthria	51218	GLRX5	ORPHA:401866
HP:0001260	Dysarthria	6687	SPG7	ORPHA:35689
HP:0001260	Dysarthria	2705	GJB1	ORPHA:1175
HP:0001260	Dysarthria	492	ATP2B3	ORPHA:314978
HP:0001260	Dysarthria	4841	NONO	ORPHA:466791
HP:0001260	Dysarthria	9896	FIG4	ORPHA:208441
HP:0001260	Dysarthria	22872	SEC31A	OMIM:618651
HP:0001260	Dysarthria	3145	HMBS	ORPHA:79276
HP:0001260	Dysarthria	7314	UBB	ORPHA:99771
HP:0001260	Dysarthria	57822	GRHL3	ORPHA:99771
HP:0001260	Dysarthria	10755	GIPC1	ORPHA:98897
HP:0001332	Dystonia	25792	CIZ1	ORPHA:420492
HP:0001332	Dystonia	58	ACTA1	ORPHA:97240
HP:0001332	Dystonia	10749	KIF1C	ORPHA:397946
HP:0001332	Dystonia	10749	KIF1C	OMIM:611302
HP:0001332	Dystonia	2643	GCH1	OMIM:128230
HP:0001332	Dystonia	2643	GCH1	ORPHA:98808
HP:0001332	Dystonia	1291	COL6A1	OMIM:254090
HP:0001332	Dystonia	1291	COL6A1	ORPHA:75840
HP:0001332	Dystonia	1291	COL6A1	OMIM:158810
HP:0001332	Dystonia	1292	COL6A2	OMIM:254090
HP:0001332	Dystonia	1292	COL6A2	ORPHA:75840
HP:0001332	Dystonia	1292	COL6A2	OMIM:158810
HP:0001332	Dystonia	1293	COL6A3	OMIM:254090
HP:0001332	Dystonia	1293	COL6A3	ORPHA:75840
HP:0001332	Dystonia	1293	COL6A3	OMIM:616411
HP:0001332	Dystonia	1293	COL6A3	OMIM:158810
HP:0001332	Dystonia	2774	GNAL	OMIM:615073
HP:0001332	Dystonia	2774	GNAL	ORPHA:329466
HP:0001332	Dystonia	1356	CP	OMIM:604290
HP:0001332	Dystonia	1356	CP	ORPHA:48818
HP:0001332	Dystonia	478	ATP1A3	OMIM:128235
HP:0001332	Dystonia	478	ATP1A3	ORPHA:71517
HP:0001332	Dystonia	1303	COL12A1	ORPHA:75840
HP:0001332	Dystonia	3208	HPCA	ORPHA:99657
HP:0001332	Dystonia	3208	HPCA	OMIM:224500
HP:0001332	Dystonia	5575	PRKAR1B	OMIM:619680
HP:0001332	Dystonia	55187	VPS13D	OMIM:607317
HP:0001332	Dystonia	91754	NEK9	OMIM:617022
HP:0001332	Dystonia	81790	RNF170	OMIM:619686
HP:0001332	Dystonia	387119	CEP85L	OMIM:618873
HP:0001332	Dystonia	3781	KCNN2	OMIM:619724
HP:0001332	Dystonia	1644	DDC	OMIM:608643
HP:0001332	Dystonia	64221	ROBO3	OMIM:607313
HP:0001332	Dystonia	63982	ANO3	ORPHA:420485
HP:0001332	Dystonia	63982	ANO3	OMIM:615034
HP:0001332	Dystonia	343641	TGM6	OMIM:613908
HP:0001332	Dystonia	343641	TGM6	ORPHA:276193
HP:0001332	Dystonia	8575	PRKRA	ORPHA:210571
HP:0001332	Dystonia	64601	VPS16	OMIM:619291
HP:0001332	Dystonia	25953	PNKD	OMIM:118800
HP:0001332	Dystonia	25953	PNKD	ORPHA:98810
HP:0001332	Dystonia	116228	COX20	OMIM:619054
HP:0001332	Dystonia	8260	NAA10	OMIM:300855
HP:0001332	Dystonia	8260	NAA10	ORPHA:276432
HP:0001332	Dystonia	10381	TUBB3	ORPHA:300570
HP:0001332	Dystonia	54834	GDAP2	OMIM:618369
HP:0001332	Dystonia	23400	ATP13A2	OMIM:606693
HP:0001332	Dystonia	7703	PCGF2	OMIM:618371
HP:0001332	Dystonia	773	CACNA1A	ORPHA:97
HP:0001332	Dystonia	773	CACNA1A	ORPHA:71518
HP:0001332	Dystonia	1813	DRD2	ORPHA:36899
HP:0001332	Dystonia	8910	SGCE	ORPHA:36899
HP:0001332	Dystonia	8910	SGCE	OMIM:159900
HP:0001332	Dystonia	79734	KCTD17	ORPHA:36899
HP:0001332	Dystonia	79734	KCTD17	OMIM:616398
HP:0001332	Dystonia	1861	TOR1A	ORPHA:36899
HP:0001332	Dystonia	1861	TOR1A	OMIM:128100
HP:0001332	Dystonia	84504	NKX6-2	OMIM:617560
HP:0001332	Dystonia	10935	PRDX3	OMIM:619862
HP:0001332	Dystonia	9757	KMT2B	OMIM:617284
HP:0001332	Dystonia	9757	KMT2B	ORPHA:589618
HP:0001332	Dystonia	2313	FLI1	ORPHA:370348
HP:0001332	Dystonia	112476	PRRT2	ORPHA:98810
HP:0001332	Dystonia	1267	CNP	OMIM:619071
HP:0001332	Dystonia	8558	CDK10	OMIM:617694
HP:0001332	Dystonia	6711	SPTBN1	OMIM:619475
HP:0001332	Dystonia	4929	NR4A2	ORPHA:98808
HP:0001332	Dystonia	3615	IMPDH2	ORPHA:98808
HP:0001332	Dystonia	10382	TUBB4A	ORPHA:98805
HP:0001332	Dystonia	10382	TUBB4A	OMIM:128101
HP:0001332	Dystonia	7701	ZNF142	OMIM:618425
HP:0001332	Dystonia	55145	THAP1	ORPHA:98806
HP:0001332	Dystonia	55145	THAP1	OMIM:602629
HP:0001332	Dystonia	3098	HK1	OMIM:618547
HP:0001332	Dystonia	55823	VPS11	OMIM:619637
HP:0001332	Dystonia	3748	KCNC3	ORPHA:98768
HP:0001332	Dystonia	80036	TRPM3	OMIM:620224
HP:0001332	Dystonia	11198	SUPT16H	OMIM:619480
HP:0001332	Dystonia	79796	ALG9	ORPHA:79328
HP:0001332	Dystonia	78989	COLEC11	OMIM:265050
HP:0001332	Dystonia	128240	NAXE	OMIM:617186
HP:0001332	Dystonia	4617	MYF5	OMIM:618155
HP:0001332	Dystonia	6663	SOX10	OMIM:609136
HP:0001332	Dystonia	6908	TBP	ORPHA:98759
HP:0001332	Dystonia	126792	B3GALT6	ORPHA:536467
HP:0001332	Dystonia	2898	GRIK2	OMIM:611092
HP:0001332	Dystonia	8831	SYNGAP1	OMIM:612621
HP:0001332	Dystonia	256472	TMEM151A	OMIM:620245
HP:0001332	Dystonia	3679	ITGA7	OMIM:613204
HP:0001332	Dystonia	7042	TGFB2	OMIM:614816
HP:0001332	Dystonia	6342	SCP2	OMIM:613724
HP:0001332	Dystonia	59341	TRPV4	OMIM:181405
HP:0001332	Dystonia	57167	SALL4	ORPHA:233
HP:0001332	Dystonia	9935	MAFB	ORPHA:233
HP:0001332	Dystonia	1123	CHN1	ORPHA:233
HP:0001332	Dystonia	7291	TWIST1	ORPHA:794
HP:0001332	Dystonia	2263	FGFR2	ORPHA:794
HP:0001332	Dystonia	2261	FGFR3	ORPHA:794
HP:0001332	Dystonia	1816	DRD5	OMIM:606798
HP:0001332	Dystonia	10815	CPLX1	ORPHA:352582
HP:0001332	Dystonia	3339	HSPG2	ORPHA:800
HP:0001332	Dystonia	84172	POLR1B	ORPHA:861
HP:0001332	Dystonia	9533	POLR1C	ORPHA:861
HP:0001332	Dystonia	51082	POLR1D	ORPHA:861
HP:0001332	Dystonia	6949	TCOF1	ORPHA:861
HP:0001332	Dystonia	56910	STARD7	OMIM:607876
HP:0001332	Dystonia	3064	HTT	ORPHA:399
HP:0001332	Dystonia	3064	HTT	OMIM:617435
HP:0001332	Dystonia	3064	HTT	ORPHA:248111
HP:0001332	Dystonia	6515	SLC2A3	ORPHA:399
HP:0001332	Dystonia	7528	YY1	ORPHA:506358
HP:0001332	Dystonia	7528	YY1	OMIM:617557
HP:0001332	Dystonia	4287	ATXN3	OMIM:109150
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276238
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276244
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276241
HP:0001332	Dystonia	55703	POLR3B	OMIM:614381
HP:0001332	Dystonia	55703	POLR3B	OMIM:607694
HP:0001332	Dystonia	26235	FBXL4	OMIM:615471
HP:0001332	Dystonia	8367	H4C5	OMIM:619950
HP:0001332	Dystonia	6834	SURF1	OMIM:616684
HP:0001332	Dystonia	6834	SURF1	ORPHA:70474
HP:0001332	Dystonia	6834	SURF1	ORPHA:255241
HP:0001332	Dystonia	2775	GNAO1	OMIM:615473
HP:0001332	Dystonia	2775	GNAO1	ORPHA:1934
HP:0001332	Dystonia	2775	GNAO1	OMIM:617493
HP:0001332	Dystonia	51569	UFM1	OMIM:617899
HP:0001332	Dystonia	23446	SLC44A1	OMIM:618868
HP:0001332	Dystonia	60684	TRAPPC11	OMIM:615356
HP:0001332	Dystonia	11284	PNKP	ORPHA:459033
HP:0001332	Dystonia	11284	PNKP	OMIM:616267
HP:0001332	Dystonia	11284	PNKP	ORPHA:1934
HP:0001332	Dystonia	84942	WDR73	OMIM:251300
HP:0001332	Dystonia	57165	GJC2	OMIM:608804
HP:0001332	Dystonia	4535	MT-ND1	ORPHA:255210
HP:0001332	Dystonia	4535	MT-ND1	OMIM:535000
HP:0001332	Dystonia	4536	MT-ND2	ORPHA:255210
HP:0001332	Dystonia	4536	MT-ND2	OMIM:535000
HP:0001332	Dystonia	4537	MT-ND3	ORPHA:255210
HP:0001332	Dystonia	4538	MT-ND4	ORPHA:255210
HP:0001332	Dystonia	4538	MT-ND4	OMIM:535000
HP:0001332	Dystonia	4567	MT-TL1	ORPHA:255210
HP:0001332	Dystonia	4578	MT-TW	ORPHA:255210
HP:0001332	Dystonia	4577	MT-TV	ORPHA:255210
HP:0001332	Dystonia	4508	MT-ATP6	ORPHA:255210
HP:0001332	Dystonia	4508	MT-ATP6	OMIM:535000
HP:0001332	Dystonia	4508	MT-ATP6	ORPHA:225154
HP:0001332	Dystonia	4540	MT-ND5	ORPHA:255210
HP:0001332	Dystonia	4540	MT-ND5	OMIM:535000
HP:0001332	Dystonia	4541	MT-ND6	ORPHA:255210
HP:0001332	Dystonia	4541	MT-ND6	OMIM:535000
HP:0001332	Dystonia	4566	MT-TK	ORPHA:255210
HP:0001332	Dystonia	2593	GAMT	ORPHA:382
HP:0001332	Dystonia	3074	HEXB	ORPHA:309169
HP:0001332	Dystonia	65993	MRPS34	OMIM:617664
HP:0001332	Dystonia	5917	RARS1	ORPHA:438114
HP:0001332	Dystonia	5917	RARS1	OMIM:616140
HP:0001332	Dystonia	56997	COQ8A	ORPHA:139485
HP:0001332	Dystonia	387787	LIPT2	OMIM:617668
HP:0001332	Dystonia	4137	MAPT	ORPHA:240085
HP:0001332	Dystonia	4137	MAPT	ORPHA:240071
HP:0001332	Dystonia	4137	MAPT	OMIM:168600
HP:0001332	Dystonia	472	ATM	OMIM:208900
HP:0001332	Dystonia	5610	EIF2AK2	OMIM:618877
HP:0001332	Dystonia	5610	EIF2AK2	OMIM:619687
HP:0001332	Dystonia	57156	TMEM63C	OMIM:619966
HP:0001332	Dystonia	51112	TRAPPC12	OMIM:617669
HP:0001332	Dystonia	51112	TRAPPC12	ORPHA:500144
HP:0001332	Dystonia	55768	NGLY1	ORPHA:404454
HP:0001332	Dystonia	2192	FBLN1	ORPHA:404451
HP:0001332	Dystonia	410	ARSA	ORPHA:309271
HP:0001332	Dystonia	410	ARSA	ORPHA:309263
HP:0001332	Dystonia	410	ARSA	OMIM:250100
HP:0001332	Dystonia	410	ARSA	ORPHA:309256
HP:0001332	Dystonia	5660	PSAP	ORPHA:309271
HP:0001332	Dystonia	5660	PSAP	ORPHA:309263
HP:0001332	Dystonia	5660	PSAP	ORPHA:309256
HP:0001332	Dystonia	5660	PSAP	ORPHA:139406
HP:0001332	Dystonia	348	APOE	OMIM:607822
HP:0001332	Dystonia	5663	PSEN1	OMIM:607822
HP:0001332	Dystonia	103	ADAR	OMIM:615010
HP:0001332	Dystonia	103	ADAR	ORPHA:225154
HP:0001332	Dystonia	103	ADAR	ORPHA:51
HP:0001332	Dystonia	7343	UBTF	OMIM:617672
HP:0001332	Dystonia	7343	UBTF	ORPHA:500180
HP:0001332	Dystonia	6844	VAMP2	OMIM:618760
HP:0001332	Dystonia	79029	AFG2B	OMIM:619616
HP:0001332	Dystonia	10352	WARS2	OMIM:619738
HP:0001332	Dystonia	10352	WARS2	OMIM:617710
HP:0001332	Dystonia	7994	KAT6A	ORPHA:457193
HP:0001332	Dystonia	7994	KAT6A	OMIM:616268
HP:0001332	Dystonia	170825	GSX2	OMIM:618646
HP:0001332	Dystonia	8560	DEGS1	OMIM:618404
HP:0001332	Dystonia	10939	AFG3L2	ORPHA:313772
HP:0001332	Dystonia	10939	AFG3L2	ORPHA:101109
HP:0001332	Dystonia	10939	AFG3L2	OMIM:610246
HP:0001332	Dystonia	10939	AFG3L2	OMIM:614487
HP:0001332	Dystonia	6872	TAF1	ORPHA:480907
HP:0001332	Dystonia	6872	TAF1	OMIM:300966
HP:0001332	Dystonia	23312	DMXL2	OMIM:616113
HP:0001332	Dystonia	23312	DMXL2	ORPHA:453533
HP:0001332	Dystonia	23312	DMXL2	ORPHA:1934
HP:0001332	Dystonia	83636	C19orf12	OMIM:614298
HP:0001332	Dystonia	833	CARS1	OMIM:618891
HP:0001332	Dystonia	5813	PURA	ORPHA:438216
HP:0001332	Dystonia	51271	UBAP1	OMIM:618418
HP:0001332	Dystonia	54840	APTX	OMIM:208920
HP:0001332	Dystonia	54832	VPS13C	ORPHA:2828
HP:0001332	Dystonia	11315	PARK7	ORPHA:2828
HP:0001332	Dystonia	7345	UCHL1	ORPHA:2828
HP:0001332	Dystonia	27429	HTRA2	ORPHA:2828
HP:0001332	Dystonia	27429	HTRA2	OMIM:617248
HP:0001332	Dystonia	120892	LRRK2	ORPHA:2828
HP:0001332	Dystonia	120892	LRRK2	ORPHA:411602
HP:0001332	Dystonia	9829	DNAJC6	ORPHA:2828
HP:0001332	Dystonia	9829	DNAJC6	ORPHA:391411
HP:0001332	Dystonia	9829	DNAJC6	OMIM:615528
HP:0001332	Dystonia	6622	SNCA	ORPHA:2828
HP:0001332	Dystonia	6622	SNCA	OMIM:168601
HP:0001332	Dystonia	6622	SNCA	ORPHA:171695
HP:0001332	Dystonia	6622	SNCA	ORPHA:411602
HP:0001332	Dystonia	5420	PODXL	ORPHA:2828
HP:0001332	Dystonia	5420	PODXL	ORPHA:391411
HP:0001332	Dystonia	65018	PINK1	ORPHA:2828
HP:0001332	Dystonia	65018	PINK1	OMIM:605909
HP:0001332	Dystonia	8867	SYNJ1	ORPHA:2828
HP:0001332	Dystonia	8867	SYNJ1	OMIM:617389
HP:0001332	Dystonia	8867	SYNJ1	ORPHA:391411
HP:0001332	Dystonia	8867	SYNJ1	OMIM:615530
HP:0001332	Dystonia	5071	PRKN	ORPHA:2828
HP:0001332	Dystonia	5071	PRKN	OMIM:600116
HP:0001332	Dystonia	284439	SLC25A42	OMIM:618416
HP:0001332	Dystonia	8398	PLA2G6	ORPHA:199351
HP:0001332	Dystonia	8398	PLA2G6	OMIM:612953
HP:0001332	Dystonia	8398	PLA2G6	OMIM:610217
HP:0001332	Dystonia	8398	PLA2G6	ORPHA:35069
HP:0001332	Dystonia	113612	CYP2U1	OMIM:615030
HP:0001332	Dystonia	113612	CYP2U1	ORPHA:320411
HP:0001332	Dystonia	10717	AP4B1	OMIM:614066
HP:0001332	Dystonia	10717	AP4B1	ORPHA:280763
HP:0001332	Dystonia	27089	UQCRQ	OMIM:615159
HP:0001332	Dystonia	55280	CWF19L1	OMIM:616127
HP:0001332	Dystonia	55280	CWF19L1	ORPHA:453521
HP:0001332	Dystonia	54902	TTC19	OMIM:615157
HP:0001332	Dystonia	4191	MDH2	OMIM:617339
HP:0001332	Dystonia	150468	CKAP2L	OMIM:272440
HP:0001332	Dystonia	111	ADCY5	OMIM:606703
HP:0001332	Dystonia	111	ADCY5	OMIM:619647
HP:0001332	Dystonia	111	ADCY5	ORPHA:324588
HP:0001332	Dystonia	111	ADCY5	OMIM:619651
HP:0001332	Dystonia	54828	BCAS3	OMIM:619641
HP:0001332	Dystonia	79991	STN1	OMIM:617341
HP:0001332	Dystonia	7358	UGDH	OMIM:618792
HP:0001332	Dystonia	2720	GLB1	OMIM:230650
HP:0001332	Dystonia	2720	GLB1	ORPHA:79255
HP:0001332	Dystonia	2904	GRIN2B	OMIM:616139
HP:0001332	Dystonia	2904	GRIN2B	OMIM:613970
HP:0001332	Dystonia	57462	MYORG	OMIM:618317
HP:0001332	Dystonia	7841	MOGS	ORPHA:79330
HP:0001332	Dystonia	540	ATP7B	OMIM:277900
HP:0001332	Dystonia	55739	NAXD	OMIM:618321
HP:0001332	Dystonia	7143	TNR	OMIM:619653
HP:0001332	Dystonia	85365	ALG2	OMIM:607906
HP:0001332	Dystonia	10463	SLC30A9	OMIM:617595
HP:0001332	Dystonia	57679	ALS2	OMIM:205100
HP:0001332	Dystonia	57679	ALS2	ORPHA:300605
HP:0001332	Dystonia	3785	KCNQ2	ORPHA:439218
HP:0001332	Dystonia	3785	KCNQ2	OMIM:613720
HP:0001332	Dystonia	4052	LTBP1	ORPHA:90349
HP:0001332	Dystonia	30008	EFEMP2	ORPHA:90349
HP:0001332	Dystonia	10516	FBLN5	ORPHA:90349
HP:0001332	Dystonia	10195	ALG3	ORPHA:79321
HP:0001332	Dystonia	6843	VAMP1	ORPHA:251282
HP:0001332	Dystonia	6843	VAMP1	OMIM:108600
HP:0001332	Dystonia	57192	MCOLN1	OMIM:252650
HP:0001332	Dystonia	2629	GBA1	ORPHA:77260
HP:0001332	Dystonia	2629	GBA1	OMIM:168600
HP:0001332	Dystonia	2629	GBA1	ORPHA:411602
HP:0001332	Dystonia	25970	SH2B1	ORPHA:261197
HP:0001332	Dystonia	10533	ATG7	OMIM:619422
HP:0001332	Dystonia	51645	PPIL1	OMIM:619301
HP:0001332	Dystonia	51362	CDC40	OMIM:619302
HP:0001332	Dystonia	81570	CLPB	OMIM:616271
HP:0001332	Dystonia	1892	ECHS1	OMIM:616277
HP:0001332	Dystonia	1892	ECHS1	ORPHA:255241
HP:0001332	Dystonia	16	AARS1	OMIM:619661
HP:0001332	Dystonia	133686	NADK2	OMIM:616034
HP:0001332	Dystonia	133686	NADK2	ORPHA:431361
HP:0001332	Dystonia	3658	IREB2	OMIM:618451
HP:0001332	Dystonia	2583	B4GALNT1	OMIM:609195
HP:0001332	Dystonia	2583	B4GALNT1	ORPHA:101006
HP:0001332	Dystonia	6857	SYT1	OMIM:618218
HP:0001332	Dystonia	6857	SYT1	ORPHA:522077
HP:0001332	Dystonia	4514	MT-CO3	OMIM:535000
HP:0001332	Dystonia	4519	MT-CYB	OMIM:535000
HP:0001332	Dystonia	4539	MT-ND4L	OMIM:535000
HP:0001332	Dystonia	6792	CDKL5	ORPHA:1934
HP:0001332	Dystonia	6792	CDKL5	ORPHA:3095
HP:0001332	Dystonia	9091	PIGQ	ORPHA:1934
HP:0001332	Dystonia	81603	TRIM8	ORPHA:1934
HP:0001332	Dystonia	2902	GRIN1	ORPHA:1934
HP:0001332	Dystonia	2902	GRIN1	ORPHA:208447
HP:0001332	Dystonia	2902	GRIN1	OMIM:617820
HP:0001332	Dystonia	2902	GRIN1	OMIM:614254
HP:0001332	Dystonia	79751	SLC25A22	ORPHA:1934
HP:0001332	Dystonia	150094	SIK1	ORPHA:1934
HP:0001332	Dystonia	8573	CASK	ORPHA:1934
HP:0001332	Dystonia	2917	GRM7	ORPHA:1934
HP:0001332	Dystonia	170302	ARX	ORPHA:1934
HP:0001332	Dystonia	170302	ARX	OMIM:308350
HP:0001332	Dystonia	6326	SCN2A	ORPHA:1934
HP:0001332	Dystonia	6326	SCN2A	OMIM:618924
HP:0001332	Dystonia	51227	PIGP	ORPHA:1934
HP:0001332	Dystonia	6324	SCN1B	ORPHA:1934
HP:0001332	Dystonia	4761	NEUROD2	ORPHA:1934
HP:0001332	Dystonia	7080	NKX2-1	OMIM:610978
HP:0001332	Dystonia	7080	NKX2-1	ORPHA:209905
HP:0001332	Dystonia	4594	MMUT	ORPHA:79312
HP:0001332	Dystonia	4594	MMUT	ORPHA:289916
HP:0001332	Dystonia	2639	GCDH	ORPHA:25
HP:0001332	Dystonia	2639	GCDH	OMIM:231670
HP:0001332	Dystonia	10059	DNM1L	ORPHA:330050
HP:0001332	Dystonia	4728	NDUFS8	OMIM:618222
HP:0001332	Dystonia	4728	NDUFS8	ORPHA:255241
HP:0001332	Dystonia	79876	UBA5	OMIM:617132
HP:0001332	Dystonia	374291	NDUFS7	OMIM:618224
HP:0001332	Dystonia	374291	NDUFS7	ORPHA:255241
HP:0001332	Dystonia	23516	SLC39A14	OMIM:617013
HP:0001332	Dystonia	23516	SLC39A14	ORPHA:521406
HP:0001332	Dystonia	51728	POLR3K	OMIM:619310
HP:0001332	Dystonia	4719	NDUFS1	OMIM:618226
HP:0001332	Dystonia	4719	NDUFS1	ORPHA:255241
HP:0001332	Dystonia	4967	OGDH	OMIM:203740
HP:0001332	Dystonia	6323	SCN1A	OMIM:619317
HP:0001332	Dystonia	7415	VCP	OMIM:167320
HP:0001332	Dystonia	4143	MAT1A	OMIM:250850
HP:0001332	Dystonia	5428	POLG	OMIM:258450
HP:0001332	Dystonia	10102	TSFM	OMIM:610505
HP:0001332	Dystonia	22854	NTNG1	ORPHA:3095
HP:0001332	Dystonia	9568	GABBR2	ORPHA:3095
HP:0001332	Dystonia	9568	GABBR2	OMIM:617903
HP:0001332	Dystonia	4204	MECP2	ORPHA:3095
HP:0001332	Dystonia	4204	MECP2	ORPHA:778
HP:0001332	Dystonia	4204	MECP2	OMIM:312750
HP:0001332	Dystonia	4204	MECP2	OMIM:300055
HP:0001332	Dystonia	8243	SMC1A	ORPHA:3095
HP:0001332	Dystonia	26275	HIBCH	ORPHA:88639
HP:0001332	Dystonia	26275	HIBCH	OMIM:250620
HP:0001332	Dystonia	11277	TREX1	OMIM:225750
HP:0001332	Dystonia	11277	TREX1	ORPHA:51
HP:0001332	Dystonia	56521	DNAJC12	OMIM:617384
HP:0001332	Dystonia	64801	ARV1	OMIM:617020
HP:0001332	Dystonia	518	ATP5MC3	OMIM:619681
HP:0001332	Dystonia	51601	LIPT1	OMIM:616299
HP:0001332	Dystonia	51601	LIPT1	ORPHA:255241
HP:0001332	Dystonia	4722	NDUFS3	OMIM:618230
HP:0001332	Dystonia	4722	NDUFS3	ORPHA:255241
HP:0001332	Dystonia	8878	SQSTM1	OMIM:617145
HP:0001332	Dystonia	29078	NDUFAF4	OMIM:618237
HP:0001332	Dystonia	79133	NDUFAF5	OMIM:618238
HP:0001332	Dystonia	79133	NDUFAF5	ORPHA:255241
HP:0001332	Dystonia	137682	NDUFAF6	OMIM:618239
HP:0001332	Dystonia	137682	NDUFAF6	ORPHA:255241
HP:0001332	Dystonia	11152	WDR45	ORPHA:329284
HP:0001332	Dystonia	11152	WDR45	OMIM:300894
HP:0001332	Dystonia	6904	TBCD	ORPHA:496641
HP:0001332	Dystonia	55967	NDUFA12	OMIM:618244
HP:0001332	Dystonia	55967	NDUFA12	ORPHA:255241
HP:0001332	Dystonia	4704	NDUFA9	OMIM:618247
HP:0001332	Dystonia	4704	NDUFA9	ORPHA:255241
HP:0001332	Dystonia	29978	UBQLN2	OMIM:300857
HP:0001332	Dystonia	6334	SCN8A	OMIM:618364
HP:0001332	Dystonia	6334	SCN8A	ORPHA:31709
HP:0001332	Dystonia	549	AUH	OMIM:250950
HP:0001332	Dystonia	549	AUH	ORPHA:67046
HP:0001332	Dystonia	4864	NPC1	OMIM:257220
HP:0001332	Dystonia	5805	PTS	ORPHA:13
HP:0001332	Dystonia	5805	PTS	OMIM:261640
HP:0001332	Dystonia	51102	MECR	OMIM:617282
HP:0001332	Dystonia	51102	MECR	ORPHA:508093
HP:0001332	Dystonia	774	CACNA1B	OMIM:618497
HP:0001332	Dystonia	6390	SDHB	OMIM:619224
HP:0001332	Dystonia	8802	SUCLG1	ORPHA:17
HP:0001332	Dystonia	8635	RNASET2	OMIM:612951
HP:0001332	Dystonia	6697	SPR	OMIM:612716
HP:0001332	Dystonia	6697	SPR	ORPHA:70594
HP:0001332	Dystonia	3028	HSD17B10	ORPHA:391428
HP:0001332	Dystonia	8943	AP3D1	OMIM:617050
HP:0001332	Dystonia	55697	VAC14	OMIM:617054
HP:0001332	Dystonia	23316	CUX2	OMIM:618141
HP:0001332	Dystonia	4361	MRE11	ORPHA:251347
HP:0001332	Dystonia	4361	MRE11	OMIM:604391
HP:0001332	Dystonia	92935	MARS2	ORPHA:314603
HP:0001332	Dystonia	92935	MARS2	OMIM:611390
HP:0001332	Dystonia	55210	ATAD3A	OMIM:617183
HP:0001332	Dystonia	2571	GAD1	OMIM:619124
HP:0001332	Dystonia	100147744	RNU7-1	OMIM:619487
HP:0001332	Dystonia	100147744	RNU7-1	ORPHA:51
HP:0001332	Dystonia	7504	XK	OMIM:300842
HP:0001332	Dystonia	374354	NHLRC2	OMIM:618278
HP:0001332	Dystonia	2760	GM2A	ORPHA:309246
HP:0001332	Dystonia	2760	GM2A	OMIM:272750
HP:0001332	Dystonia	23230	VPS13A	OMIM:200150
HP:0001332	Dystonia	84340	GFM2	OMIM:618397
HP:0001332	Dystonia	23287	AGTPBP1	OMIM:618276
HP:0001332	Dystonia	9373	PLAA	ORPHA:521426
HP:0001332	Dystonia	539	ATP5PO	OMIM:620359
HP:0001332	Dystonia	498	ATP5F1A	OMIM:620358
HP:0001332	Dystonia	1893	ECM1	ORPHA:530
HP:0001332	Dystonia	25978	CHMP2B	OMIM:600795
HP:0001332	Dystonia	23636	NUP62	ORPHA:225154
HP:0001332	Dystonia	23636	NUP62	OMIM:271930
HP:0001332	Dystonia	6571	SLC18A2	OMIM:618049
HP:0001332	Dystonia	6571	SLC18A2	ORPHA:352649
HP:0001332	Dystonia	3739	KCNA4	OMIM:618284
HP:0001332	Dystonia	10479	SLC9A6	ORPHA:85278
HP:0001332	Dystonia	777	CACNA1E	OMIM:618285
HP:0001332	Dystonia	1315	COPB1	OMIM:619255
HP:0001332	Dystonia	2733	GLE1	OMIM:611890
HP:0001332	Dystonia	727676	SNORD118	ORPHA:542310
HP:0001332	Dystonia	727676	SNORD118	OMIM:614561
HP:0001332	Dystonia	131118	DNAJC19	ORPHA:66634
HP:0001332	Dystonia	81615	TMEM163	OMIM:620243
HP:0001332	Dystonia	124454	EARS2	OMIM:614924
HP:0001332	Dystonia	84153	RNASEH2C	OMIM:610329
HP:0001332	Dystonia	84153	RNASEH2C	ORPHA:51
HP:0001332	Dystonia	1678	TIMM8A	ORPHA:52368
HP:0001332	Dystonia	1678	TIMM8A	OMIM:304700
HP:0001332	Dystonia	80704	SLC19A3	ORPHA:263410
HP:0001332	Dystonia	80704	SLC19A3	OMIM:607483
HP:0001332	Dystonia	80704	SLC19A3	ORPHA:255241
HP:0001332	Dystonia	5860	QDPR	OMIM:261630
HP:0001332	Dystonia	25793	FBXO7	OMIM:260300
HP:0001332	Dystonia	25793	FBXO7	ORPHA:171695
HP:0001332	Dystonia	87178	PNPT1	OMIM:614932
HP:0001332	Dystonia	10535	RNASEH2A	OMIM:610333
HP:0001332	Dystonia	10535	RNASEH2A	ORPHA:51
HP:0001332	Dystonia	2747	GLUD2	OMIM:168600
HP:0001332	Dystonia	126	ADH1C	OMIM:168600
HP:0001332	Dystonia	4576	MT-TT	OMIM:168600
HP:0001332	Dystonia	9627	SNCAIP	OMIM:168600
HP:0001332	Dystonia	6311	ATXN2	OMIM:168600
HP:0001332	Dystonia	6311	ATXN2	ORPHA:98756
HP:0001332	Dystonia	6315	ATXN8OS	OMIM:168600
HP:0001332	Dystonia	6315	ATXN8OS	ORPHA:98760
HP:0001332	Dystonia	161742	SPRED1	ORPHA:137605
HP:0001332	Dystonia	284111	SLC13A5	OMIM:615905
HP:0001332	Dystonia	50640	PNPLA8	OMIM:251950
HP:0001332	Dystonia	1639	DCTN1	OMIM:168605
HP:0001332	Dystonia	5138	PDE2A	OMIM:619150
HP:0001332	Dystonia	5138	PDE2A	ORPHA:31709
HP:0001332	Dystonia	27183	VPS4A	OMIM:619273
HP:0001332	Dystonia	10128	LRPPRC	OMIM:220111
HP:0001332	Dystonia	10134	BCAP31	OMIM:300475
HP:0001332	Dystonia	6535	SLC6A8	OMIM:300352
HP:0001332	Dystonia	6535	SLC6A8	ORPHA:52503
HP:0001332	Dystonia	26960	NBEA	OMIM:619157
HP:0001332	Dystonia	1183	CLCN4	OMIM:300114
HP:0001332	Dystonia	8506	CNTNAP1	OMIM:618186
HP:0001332	Dystonia	55532	SLC30A10	ORPHA:309854
HP:0001332	Dystonia	55532	SLC30A10	OMIM:613280
HP:0001332	Dystonia	25821	MTO1	OMIM:614702
HP:0001332	Dystonia	8496	PPFIBP1	OMIM:620024
HP:0001332	Dystonia	6531	SLC6A3	ORPHA:238455
HP:0001332	Dystonia	6531	SLC6A3	OMIM:613135
HP:0001332	Dystonia	9442	MED27	OMIM:619286
HP:0001332	Dystonia	6392	SDHD	OMIM:619167
HP:0001332	Dystonia	26580	BSCL2	OMIM:615924
HP:0001332	Dystonia	271	AMPD2	OMIM:615809
HP:0001332	Dystonia	8913	CACNA1G	OMIM:618087
HP:0001332	Dystonia	64207	IRF2BPL	OMIM:618088
HP:0001332	Dystonia	6575	SLC20A2	OMIM:213600
HP:0001332	Dystonia	5155	PDGFB	OMIM:213600
HP:0001332	Dystonia	5159	PDGFRB	OMIM:213600
HP:0001332	Dystonia	23732	FRRS1L	ORPHA:725
HP:0001332	Dystonia	2903	GRIN2A	ORPHA:725
HP:0001332	Dystonia	54675	CRLS1	OMIM:620167
HP:0001332	Dystonia	5095	PCCA	OMIM:606054
HP:0001332	Dystonia	5096	PCCB	OMIM:606054
HP:0001332	Dystonia	10273	STUB1	OMIM:618093
HP:0001332	Dystonia	7274	TTPA	ORPHA:96
HP:0001332	Dystonia	7274	TTPA	OMIM:277460
HP:0001332	Dystonia	57531	HACE1	ORPHA:464282
HP:0001332	Dystonia	57531	HACE1	OMIM:616756
HP:0001332	Dystonia	10367	MICU1	ORPHA:401768
HP:0001332	Dystonia	10367	MICU1	OMIM:615673
HP:0001332	Dystonia	4697	NDUFA4	OMIM:619065
HP:0001332	Dystonia	4697	NDUFA4	ORPHA:255241
HP:0001332	Dystonia	84947	SERAC1	OMIM:614739
HP:0001332	Dystonia	79152	FA2H	OMIM:612319
HP:0001332	Dystonia	57338	JPH3	ORPHA:98934
HP:0001332	Dystonia	57338	JPH3	OMIM:606438
HP:0001332	Dystonia	2395	FXN	ORPHA:95
HP:0001332	Dystonia	3735	KARS1	OMIM:619196
HP:0001332	Dystonia	1593	CYP27A1	ORPHA:909
HP:0001332	Dystonia	23533	PIK3R5	ORPHA:64753
HP:0001332	Dystonia	23064	SETX	ORPHA:64753
HP:0001332	Dystonia	23064	SETX	OMIM:606002
HP:0001332	Dystonia	6507	SLC1A3	ORPHA:2131
HP:0001332	Dystonia	477	ATP1A2	ORPHA:2131
HP:0001332	Dystonia	477	ATP1A2	OMIM:104290
HP:0001332	Dystonia	146057	TTBK2	ORPHA:98767
HP:0001332	Dystonia	1282	COL4A1	OMIM:175780
HP:0001332	Dystonia	80067	DCAF17	ORPHA:3464
HP:0001332	Dystonia	80067	DCAF17	OMIM:241080
HP:0001332	Dystonia	80025	PANK2	OMIM:234200
HP:0001332	Dystonia	80025	PANK2	OMIM:607236
HP:0001332	Dystonia	11128	POLR3A	ORPHA:447896
HP:0001332	Dystonia	11128	POLR3A	OMIM:607694
HP:0001332	Dystonia	724066	ATXN8	ORPHA:98760
HP:0001332	Dystonia	3251	HPRT1	OMIM:300322
HP:0001332	Dystonia	3251	HPRT1	ORPHA:79233
HP:0001332	Dystonia	8050	PDHX	OMIM:245349
HP:0001332	Dystonia	2521	FUS	ORPHA:300605
HP:0001332	Dystonia	80208	SPG11	ORPHA:300605
HP:0001332	Dystonia	10280	SIGMAR1	ORPHA:300605
HP:0001332	Dystonia	10558	SPTLC1	ORPHA:300605
HP:0001332	Dystonia	64135	IFIH1	OMIM:615846
HP:0001332	Dystonia	64135	IFIH1	ORPHA:51
HP:0001332	Dystonia	25828	TXN2	OMIM:616811
HP:0001332	Dystonia	6310	ATXN1	ORPHA:98755
HP:0001332	Dystonia	3187	HNRNPH1	OMIM:620083
HP:0001332	Dystonia	64116	SLC39A8	ORPHA:468699
HP:0001332	Dystonia	85021	REPS1	OMIM:617916
HP:0001332	Dystonia	84978	FRMD5	OMIM:620094
HP:0001332	Dystonia	6567	SLC16A2	ORPHA:59
HP:0001332	Dystonia	197322	ACSF3	ORPHA:289504
HP:0001332	Dystonia	57017	COQ9	OMIM:614654
HP:0001332	Dystonia	22907	DHX30	OMIM:617804
HP:0001332	Dystonia	137492	VPS37A	OMIM:614898
HP:0001332	Dystonia	339453	TMEM240	OMIM:607454
HP:0001332	Dystonia	9230	RAB11B	OMIM:617807
HP:0001332	Dystonia	25939	SAMHD1	ORPHA:51
HP:0001332	Dystonia	79621	RNASEH2B	ORPHA:51
HP:0001332	Dystonia	79621	RNASEH2B	OMIM:610181
HP:0001332	Dystonia	134353	LSM11	ORPHA:51
HP:0001332	Dystonia	1738	DLD	OMIM:246900
HP:0001332	Dystonia	7167	TPI1	OMIM:615512
HP:0001332	Dystonia	2290	FOXG1	OMIM:613454
HP:0001332	Dystonia	27249	MMADHC	OMIM:277410
HP:0001332	Dystonia	91147	TMEM67	OMIM:216360
HP:0001332	Dystonia	1822	ATN1	OMIM:125370
HP:0001332	Dystonia	5160	PDHA1	OMIM:312170
HP:0001332	Dystonia	5160	PDHA1	ORPHA:79243
HP:0001332	Dystonia	5160	PDHA1	ORPHA:255241
HP:0001332	Dystonia	80347	COASY	OMIM:615643
HP:0001332	Dystonia	2782	GNB1	OMIM:616973
HP:0001332	Dystonia	57505	AARS2	OMIM:615889
HP:0001332	Dystonia	55152	DALRD3	OMIM:618910
HP:0001332	Dystonia	3097	HIVEP2	OMIM:616977
HP:0001332	Dystonia	2561	GABRB2	OMIM:617829
HP:0001332	Dystonia	2891	GRIA2	OMIM:618917
HP:0001332	Dystonia	2592	GALT	ORPHA:79239
HP:0001332	Dystonia	55906	ZC4H2	OMIM:314580
HP:0001332	Dystonia	9512	PMPCB	OMIM:617954
HP:0001332	Dystonia	4358	MPV17	OMIM:256810
HP:0001332	Dystonia	2058	EPRS1	OMIM:617951
HP:0001332	Dystonia	79947	DHDDS	OMIM:617836
HP:0001332	Dystonia	23317	DNAJC13	ORPHA:411602
HP:0001332	Dystonia	1981	EIF4G1	ORPHA:411602
HP:0001332	Dystonia	55737	VPS35	ORPHA:411602
HP:0001332	Dystonia	26058	GIGYF2	ORPHA:411602
HP:0001332	Dystonia	9361	LONP1	ORPHA:79243
HP:0001332	Dystonia	128989	TANGO2	ORPHA:480864
HP:0001332	Dystonia	128989	TANGO2	OMIM:616878
HP:0001332	Dystonia	23065	EMC1	OMIM:616875
HP:0001332	Dystonia	54664	TMEM106B	OMIM:617964
HP:0001332	Dystonia	27010	TPK1	OMIM:614458
HP:0001332	Dystonia	1213	CLTC	OMIM:617854
HP:0001332	Dystonia	2517	FUCA1	OMIM:230000
HP:0001332	Dystonia	64857	PLEKHG2	OMIM:616763
HP:0001332	Dystonia	4329	ALDH6A1	OMIM:614105
HP:0001332	Dystonia	8405	SPOP	OMIM:618829
HP:0001332	Dystonia	25915	NDUFAF3	ORPHA:70474
HP:0001332	Dystonia	4714	NDUFB8	ORPHA:70474
HP:0001332	Dystonia	4720	NDUFS2	ORPHA:70474
HP:0001332	Dystonia	4720	NDUFS2	ORPHA:255241
HP:0001332	Dystonia	9997	SCO2	ORPHA:70474
HP:0001332	Dystonia	55164	SHQ1	OMIM:619921
HP:0001332	Dystonia	55164	SHQ1	OMIM:619922
HP:0001332	Dystonia	54676	GTPBP2	OMIM:617988
HP:0001332	Dystonia	100506658	OCLN	OMIM:251290
HP:0001332	Dystonia	51	ACOX1	OMIM:264470
HP:0001332	Dystonia	6389	SDHA	ORPHA:255241
HP:0001332	Dystonia	6389	SDHA	OMIM:252011
HP:0001332	Dystonia	91942	NDUFAF2	ORPHA:255241
HP:0001332	Dystonia	4723	NDUFV1	ORPHA:255241
HP:0001332	Dystonia	55572	FOXRED1	ORPHA:255241
HP:0001332	Dystonia	4729	NDUFV2	ORPHA:255241
HP:0001332	Dystonia	51204	TACO1	ORPHA:255241
HP:0001332	Dystonia	4724	NDUFS4	ORPHA:255241
HP:0001332	Dystonia	100131801	PET100	ORPHA:255241
HP:0001332	Dystonia	1355	COX15	ORPHA:255241
HP:0001332	Dystonia	123263	MTFMT	ORPHA:255241
HP:0001332	Dystonia	51079	NDUFA13	ORPHA:255241
HP:0001332	Dystonia	4705	NDUFA10	ORPHA:255241
HP:0001332	Dystonia	4695	NDUFA2	ORPHA:255241
HP:0001332	Dystonia	9179	AP4M1	ORPHA:280763
HP:0001332	Dystonia	11154	AP4S1	ORPHA:280763
HP:0001332	Dystonia	23431	AP4E1	ORPHA:280763
HP:0001332	Dystonia	10577	NPC2	OMIM:607625
HP:0001332	Dystonia	54802	TRIT1	OMIM:617873
HP:0001332	Dystonia	51294	PCDH12	OMIM:251280
HP:0001332	Dystonia	9439	MED23	OMIM:614249
HP:0001332	Dystonia	8481	OFD1	ORPHA:2750
HP:0001332	Dystonia	3778	KCNMA1	OMIM:618729
HP:0001332	Dystonia	51733	UPB1	OMIM:613161
HP:0001332	Dystonia	55331	ACER3	OMIM:617762
HP:0001332	Dystonia	8803	SUCLA2	OMIM:612073
HP:0001332	Dystonia	79587	CARS2	OMIM:616672
HP:0001332	Dystonia	35	ACADS	ORPHA:26792
HP:0001332	Dystonia	80169	CTC1	OMIM:612199
HP:0001332	Dystonia	5297	PI4KA	OMIM:619708
HP:0001332	Dystonia	1737	DLAT	OMIM:245348
HP:0001332	Dystonia	1737	DLAT	ORPHA:79244
HP:0001332	Dystonia	1137	CHRNA4	ORPHA:98784
HP:0001332	Dystonia	1135	CHRNA2	ORPHA:98784
HP:0001332	Dystonia	57010	CABP4	ORPHA:98784
HP:0001332	Dystonia	1141	CHRNB2	ORPHA:98784
HP:0001332	Dystonia	57582	KCNT1	ORPHA:98784
HP:0001332	Dystonia	1392	CRH	ORPHA:98784
HP:0001332	Dystonia	9681	DEPDC5	ORPHA:98784
HP:0001332	Dystonia	6513	SLC2A1	OMIM:606777
HP:0001332	Dystonia	23221	RHOBTB2	OMIM:618004
HP:0001332	Dystonia	57465	TBC1D24	ORPHA:163727
HP:0001332	Dystonia	57465	TBC1D24	OMIM:608105
HP:0001332	Dystonia	283989	TSEN54	ORPHA:2524
HP:0001332	Dystonia	116461	TSEN15	ORPHA:2524
HP:0001332	Dystonia	79042	TSEN34	ORPHA:2524
HP:0001332	Dystonia	80746	TSEN2	ORPHA:2524
HP:0001332	Dystonia	51091	SEPSECS	ORPHA:2524
HP:0001332	Dystonia	10667	FARS2	ORPHA:466722
HP:0001332	Dystonia	59336	PRDM13	OMIM:619909
HP:0001332	Dystonia	2512	FTL	OMIM:606159
HP:0001332	Dystonia	2512	FTL	ORPHA:157846
HP:0001332	Dystonia	5354	PLP1	OMIM:312080
HP:0001332	Dystonia	3094	HINT1	ORPHA:324442
HP:0001332	Dystonia	3736	KCNA1	ORPHA:98809
HP:0001332	Dystonia	2767	GNA11	ORPHA:428
HP:0001332	Dystonia	846	CASR	ORPHA:428
HP:0001332	Dystonia	84909	AOPEP	OMIM:619565
HP:0001332	Dystonia	58494	JAM2	OMIM:618824
HP:0001332	Dystonia	347734	SLC35B2	OMIM:620269
HP:0001332	Dystonia	9256	TSPOAP1	ORPHA:101150
HP:0001332	Dystonia	7054	TH	ORPHA:101150
HP:0001332	Dystonia	7054	TH	OMIM:605407
HP:0001332	Dystonia	1528	CYB5A	ORPHA:621
HP:0001332	Dystonia	1727	CYB5R3	ORPHA:621
HP:0001332	Dystonia	90522	YIF1B	OMIM:619125
HP:0001332	Dystonia	1841	DTYMK	OMIM:619847
HP:0001332	Dystonia	128486	FITM2	OMIM:618635
HP:0001332	Dystonia	2260	FGFR1	ORPHA:220386
HP:0001332	Dystonia	2260	FGFR1	ORPHA:93924
HP:0001332	Dystonia	28514	DLL1	ORPHA:220386
HP:0001332	Dystonia	28514	DLL1	ORPHA:93926
HP:0001332	Dystonia	28514	DLL1	ORPHA:93924
HP:0001332	Dystonia	28514	DLL1	ORPHA:93925
HP:0001332	Dystonia	10735	STAG2	ORPHA:220386
HP:0001332	Dystonia	10735	STAG2	ORPHA:93925
HP:0001332	Dystonia	2253	FGF8	ORPHA:220386
HP:0001332	Dystonia	2253	FGF8	ORPHA:93926
HP:0001332	Dystonia	2253	FGF8	ORPHA:93924
HP:0001332	Dystonia	2253	FGF8	ORPHA:93925
HP:0001332	Dystonia	6496	SIX3	ORPHA:220386
HP:0001332	Dystonia	6496	SIX3	ORPHA:93926
HP:0001332	Dystonia	6496	SIX3	ORPHA:93924
HP:0001332	Dystonia	6496	SIX3	ORPHA:93925
HP:0001332	Dystonia	7050	TGIF1	ORPHA:220386
HP:0001332	Dystonia	7050	TGIF1	ORPHA:93926
HP:0001332	Dystonia	7050	TGIF1	ORPHA:93924
HP:0001332	Dystonia	7050	TGIF1	ORPHA:93925
HP:0001332	Dystonia	4838	NODAL	ORPHA:220386
HP:0001332	Dystonia	4838	NODAL	ORPHA:93926
HP:0001332	Dystonia	4838	NODAL	ORPHA:93924
HP:0001332	Dystonia	4838	NODAL	ORPHA:93925
HP:0001332	Dystonia	6469	SHH	ORPHA:220386
HP:0001332	Dystonia	6469	SHH	ORPHA:93926
HP:0001332	Dystonia	6469	SHH	ORPHA:93924
HP:0001332	Dystonia	6469	SHH	ORPHA:93925
HP:0001332	Dystonia	7546	ZIC2	ORPHA:220386
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93926
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93924
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93925
HP:0001332	Dystonia	6491	STIL	ORPHA:220386
HP:0001332	Dystonia	6491	STIL	ORPHA:93926
HP:0001332	Dystonia	6491	STIL	ORPHA:93924
HP:0001332	Dystonia	6491	STIL	ORPHA:93925
HP:0001332	Dystonia	2619	GAS1	ORPHA:220386
HP:0001332	Dystonia	2619	GAS1	ORPHA:93926
HP:0001332	Dystonia	2619	GAS1	ORPHA:93924
HP:0001332	Dystonia	2619	GAS1	ORPHA:93925
HP:0001332	Dystonia	84976	DISP1	ORPHA:220386
HP:0001332	Dystonia	84976	DISP1	ORPHA:93926
HP:0001332	Dystonia	84976	DISP1	ORPHA:93924
HP:0001332	Dystonia	84976	DISP1	ORPHA:93925
HP:0001332	Dystonia	2736	GLI2	ORPHA:220386
HP:0001332	Dystonia	2736	GLI2	ORPHA:93926
HP:0001332	Dystonia	2736	GLI2	ORPHA:93924
HP:0001332	Dystonia	2736	GLI2	ORPHA:93925
HP:0001332	Dystonia	8928	FOXH1	ORPHA:220386
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93926
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93924
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93925
HP:0001332	Dystonia	5727	PTCH1	ORPHA:220386
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93926
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93924
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93925
HP:0001332	Dystonia	50937	CDON	ORPHA:220386
HP:0001332	Dystonia	50937	CDON	ORPHA:93926
HP:0001332	Dystonia	50937	CDON	ORPHA:93924
HP:0001332	Dystonia	50937	CDON	ORPHA:93925
HP:0001332	Dystonia	23007	PLCH1	ORPHA:93925
HP:0001332	Dystonia	5521	PPP2R2B	OMIM:604326
HP:0001332	Dystonia	84842	HPDL	OMIM:619026
HP:0001332	Dystonia	27235	COQ2	ORPHA:227510
HP:0001332	Dystonia	27235	COQ2	ORPHA:98933
HP:0001332	Dystonia	5832	ALDH18A1	ORPHA:447757
HP:0001332	Dystonia	5582	PRKCG	OMIM:605361
HP:0001332	Dystonia	6821	SUOX	OMIM:272300
HP:0001332	Dystonia	64432	MRPS25	OMIM:619025
HP:0001332	Dystonia	27072	VPS41	OMIM:619389
HP:0001332	Dystonia	51506	UFC1	OMIM:618076
HP:0001332	Dystonia	5092	PCBD1	ORPHA:1578
HP:0001332	Dystonia	2778	GNAS	ORPHA:94089
HP:0001332	Dystonia	2778	GNAS	ORPHA:79443
HP:0001332	Dystonia	2778	GNAS	ORPHA:79444
HP:0001332	Dystonia	8675	STX16	ORPHA:94089
HP:0001332	Dystonia	4700	NDUFA6	OMIM:618253
HP:0001332	Dystonia	65055	REEP1	OMIM:620011
HP:0001332	Dystonia	60	ACTB	OMIM:607371
HP:0001332	Dystonia	23345	SYNE1	ORPHA:88644
HP:0002329	Drowsiness	3767	KCNJ11	ORPHA:276580
HP:0002329	Drowsiness	4728	NDUFS8	OMIM:618222
HP:0002329	Drowsiness	64849	SLC13A3	OMIM:618384
HP:0002329	Drowsiness	4519	MT-CYB	ORPHA:137675
HP:0002329	Drowsiness	9326	ZNHIT3	ORPHA:2836
HP:0002329	Drowsiness	547	KIF1A	ORPHA:2836
HP:0002329	Drowsiness	162417	NAGS	ORPHA:927
HP:0002329	Drowsiness	10165	SLC25A13	ORPHA:247585
HP:0002329	Drowsiness	9361	LONP1	ORPHA:79243
HP:0002329	Drowsiness	5160	PDHA1	ORPHA:79243
HP:0002329	Drowsiness	6697	SPR	ORPHA:70594
HP:0002329	Drowsiness	2203	FBP1	ORPHA:348
HP:0002329	Drowsiness	5805	PTS	ORPHA:13
HP:0002329	Drowsiness	4125	MAN2B1	ORPHA:309282
HP:0002329	Drowsiness	4125	MAN2B1	ORPHA:309288
HP:0002329	Drowsiness	3172	HNF4A	ORPHA:263455
HP:0002329	Drowsiness	80704	SLC19A3	ORPHA:263410
HP:0002329	Drowsiness	6927	HNF1A	ORPHA:324575
HP:0002329	Drowsiness	7067	THRA	OMIM:614450
HP:0002329	Drowsiness	54872	PIGG	ORPHA:488635
HP:0002329	Drowsiness	2670	GFAP	OMIM:203450
HP:0002329	Drowsiness	773	CACNA1A	ORPHA:71518
HP:0002329	Drowsiness	773	CACNA1A	OMIM:141500
HP:0002329	Drowsiness	4552	MTRR	ORPHA:2169
HP:0002329	Drowsiness	7351	UCP2	ORPHA:276556
HP:0002329	Drowsiness	6833	ABCC8	OMIM:240800
HP:0002329	Drowsiness	6833	ABCC8	ORPHA:276575
HP:0002329	Drowsiness	6329	SCN4A	ORPHA:98913
HP:0002329	Drowsiness	1134	CHRNA1	ORPHA:98913
HP:0002329	Drowsiness	4038	LRP4	ORPHA:98913
HP:0002329	Drowsiness	1305	COL13A1	ORPHA:98913
HP:0002329	Drowsiness	1140	CHRNB1	ORPHA:98913
HP:0002329	Drowsiness	1144	CHRND	ORPHA:98913
HP:0002329	Drowsiness	1145	CHRNE	ORPHA:98913
HP:0002329	Drowsiness	4593	MUSK	ORPHA:98913
HP:0002329	Drowsiness	5913	RAPSN	ORPHA:98913
HP:0002329	Drowsiness	375790	AGRN	ORPHA:98913
HP:0002329	Drowsiness	221264	AK9	ORPHA:98913
HP:0002329	Drowsiness	285489	DOK7	ORPHA:98913
HP:0002329	Drowsiness	477	ATP1A2	OMIM:602481
HP:0002329	Drowsiness	3060	HCRT	OMIM:161400
HP:0012541	Cephalohematoma	2157	F8	ORPHA:169802
HP:0012541	Cephalohematoma	9578	CDC42BPB	OMIM:619841
HP:0012541	Cephalohematoma	2147	F2	ORPHA:325
HP:0012541	Cephalohematoma	2811	GP1BA	ORPHA:853
HP:0012541	Cephalohematoma	2812	GP1BB	ORPHA:853
HP:0012541	Cephalohematoma	3674	ITGA2B	ORPHA:853
HP:0012541	Cephalohematoma	3673	ITGA2	ORPHA:853
HP:0012541	Cephalohematoma	135228	CD109	ORPHA:853
HP:0012541	Cephalohematoma	3690	ITGB3	ORPHA:853
HP:0012543	Hemosiderinuria	9493	KIF23	OMIM:105600
HP:0012543	Hemosiderinuria	5277	PIGA	ORPHA:447
HP:0012544	Elevated circulating aldolase concentration	5213	PFKM	OMIM:232800
HP:0012544	Elevated circulating aldolase concentration	23175	LPIN1	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	4512	MT-CO1	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	4514	MT-CO3	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	7040	TGFB1	ORPHA:1328
HP:0012544	Elevated circulating aldolase concentration	3339	HSPG2	ORPHA:800
HP:0012545	Reduced circulating aldolase concentration	226	ALDOA	ORPHA:57
HP:0012545	Reduced circulating aldolase concentration	229	ALDOB	ORPHA:469
HP:0012547	Abnormal involuntary eye movements	26191	PTPN22	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	3106	HLA-B	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	3123	HLA-DRB1	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	8974	P4HA2	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	1718	DHCR24	OMIM:602398
HP:0012547	Abnormal involuntary eye movements	1718	DHCR24	ORPHA:35107
HP:0012547	Abnormal involuntary eye movements	4524	MTHFR	ORPHA:395
HP:0012547	Abnormal involuntary eye movements	26235	FBXL4	OMIM:615471
HP:0012547	Abnormal involuntary eye movements	2200	FBN1	ORPHA:1885
HP:0012547	Abnormal involuntary eye movements	54507	ADAMTSL4	ORPHA:1885
HP:0012547	Abnormal involuntary eye movements	7299	TYR	OMIM:203100
HP:0012547	Abnormal involuntary eye movements	7299	TYR	OMIM:606952
HP:0012547	Abnormal involuntary eye movements	7299	TYR	ORPHA:79431
HP:0012547	Abnormal involuntary eye movements	7299	TYR	ORPHA:79434
HP:0012547	Abnormal involuntary eye movements	9254	CACNA2D2	OMIM:618501
HP:0012547	Abnormal involuntary eye movements	7360	UGP2	OMIM:618744
HP:0012547	Abnormal involuntary eye movements	1786	DNMT1	ORPHA:314404
HP:0012547	Abnormal involuntary eye movements	5457	POU4F1	ORPHA:314647
HP:0012547	Abnormal involuntary eye movements	5457	POU4F1	OMIM:619352
HP:0012547	Abnormal involuntary eye movements	23261	CAMTA1	ORPHA:314647
HP:0012547	Abnormal involuntary eye movements	51	ACOX1	ORPHA:2971
HP:0012547	Abnormal involuntary eye movements	51	ACOX1	OMIM:264470
HP:0012547	Abnormal involuntary eye movements	51099	ABHD5	OMIM:275630
HP:0012547	Abnormal involuntary eye movements	51099	ABHD5	ORPHA:98907
HP:0012547	Abnormal involuntary eye movements	6687	SPG7	ORPHA:99013
HP:0012547	Abnormal involuntary eye movements	6687	SPG7	OMIM:607259
HP:0012547	Abnormal involuntary eye movements	4552	MTRR	OMIM:236270
HP:0012547	Abnormal involuntary eye movements	4552	MTRR	ORPHA:2169
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:99015
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	OMIM:312080
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	OMIM:312920
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280210
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280224
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280219
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280234
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280229
HP:0012547	Abnormal involuntary eye movements	54714	CNGB3	OMIM:262300
HP:0012547	Abnormal involuntary eye movements	83959	SLC4A11	ORPHA:293603
HP:0012547	Abnormal involuntary eye movements	83959	SLC4A11	ORPHA:1490
HP:0012547	Abnormal involuntary eye movements	65993	MRPS34	OMIM:617664
HP:0012547	Abnormal involuntary eye movements	10528	NOP56	OMIM:614153
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	OMIM:611560
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	OMIM:609583
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	OMIM:614424
HP:0012547	Abnormal involuntary eye movements	26504	CNNM4	ORPHA:1873
HP:0012547	Abnormal involuntary eye movements	26504	CNNM4	OMIM:217080
HP:0012547	Abnormal involuntary eye movements	166378	AFG2A	OMIM:616577
HP:0012547	Abnormal involuntary eye movements	27229	TUBGCP4	OMIM:616335
HP:0012547	Abnormal involuntary eye movements	27229	TUBGCP4	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	55690	PACS1	OMIM:615009
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	OMIM:608629
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:75858
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	OMIM:617761
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	OMIM:617121
HP:0012547	Abnormal involuntary eye movements	95681	CEP41	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	95681	CEP41	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	10686	CLDN16	OMIM:248250
HP:0012547	Abnormal involuntary eye movements	85015	USP45	OMIM:618513
HP:0012547	Abnormal involuntary eye movements	85015	USP45	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	OMIM:275400
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	ORPHA:2377
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	ORPHA:1173
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	OMIM:245800
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	OMIM:216400
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90324
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	55636	CHD7	ORPHA:138
HP:0012547	Abnormal involuntary eye movements	55636	CHD7	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	9723	SEMA3E	ORPHA:138
HP:0012547	Abnormal involuntary eye movements	79868	ALG13	ORPHA:324422
HP:0012547	Abnormal involuntary eye movements	103	ADAR	OMIM:615010
HP:0012547	Abnormal involuntary eye movements	103	ADAR	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	283652	SLC24A5	OMIM:113750
HP:0012547	Abnormal involuntary eye movements	283652	SLC24A5	ORPHA:370097
HP:0012547	Abnormal involuntary eye movements	64834	ELOVL1	OMIM:618527
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	79140	CCDC28B	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	582	BBS1	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	582	BBS1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	582	BBS1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	2697	GJA1	ORPHA:2710
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	OMIM:551500
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	ORPHA:644
HP:0012547	Abnormal involuntary eye movements	1716	DGUOK	OMIM:251880
HP:0012547	Abnormal involuntary eye movements	1420	CRYGC	OMIM:604307
HP:0012547	Abnormal involuntary eye movements	1420	CRYGC	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	857	CAV1	OMIM:606721
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	OMIM:619621
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	OMIM:619708
HP:0012547	Abnormal involuntary eye movements	4330	MN1	OMIM:618774
HP:0012547	Abnormal involuntary eye movements	26258	BLOC1S6	OMIM:614171
HP:0012547	Abnormal involuntary eye movements	57231	SNX14	OMIM:616354
HP:0012547	Abnormal involuntary eye movements	57231	SNX14	ORPHA:397709
HP:0012547	Abnormal involuntary eye movements	5833	PCYT2	OMIM:618770
HP:0012547	Abnormal involuntary eye movements	8550	MAPKAPK5	OMIM:619869
HP:0012547	Abnormal involuntary eye movements	3340	NDST1	OMIM:616116
HP:0012547	Abnormal involuntary eye movements	89910	UBE3B	ORPHA:2707
HP:0012547	Abnormal involuntary eye movements	89910	UBE3B	OMIM:244450
HP:0012547	Abnormal involuntary eye movements	6103	RPGR	OMIM:304020
HP:0012547	Abnormal involuntary eye movements	6103	RPGR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	788	SLC25A20	ORPHA:159
HP:0012547	Abnormal involuntary eye movements	5373	PMM2	OMIM:212065
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	OMIM:604537
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	92482	BBIP1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	OMIM:610188
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	OMIM:615991
HP:0012547	Abnormal involuntary eye movements	11020	IFT27	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	49855	SCAPER	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	49855	SCAPER	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	51057	WDPCP	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	27241	BBS9	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	84984	CEP19	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	22954	TRIM32	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	79738	BBS10	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	123016	TTC8	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	123016	TTC8	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	26160	IFT172	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	26160	IFT172	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	583	BBS2	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	583	BBS2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	585	BBS4	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	8195	MKKS	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	54585	LZTFL1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	55212	BBS7	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	166379	BBS12	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	10806	SDCCAG8	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	157657	CFAP418	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	157657	CFAP418	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	129880	BBS5	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80173	IFT74	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	5146	PDE6C	OMIM:613093
HP:0012547	Abnormal involuntary eye movements	3982	LIM2	OMIM:615277
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	OMIM:615035
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	ORPHA:254930
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	OMIM:613559
HP:0012547	Abnormal involuntary eye movements	23126	POGZ	OMIM:616364
HP:0012547	Abnormal involuntary eye movements	3769	KCNJ13	OMIM:614186
HP:0012547	Abnormal involuntary eye movements	3769	KCNJ13	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	5604	MAP2K1	OMIM:615279
HP:0012547	Abnormal involuntary eye movements	5604	MAP2K1	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	51692	CPSF3	OMIM:619876
HP:0012547	Abnormal involuntary eye movements	3098	HK1	OMIM:618547
HP:0012547	Abnormal involuntary eye movements	5590	PRKCZ	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	2563	GABRD	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	23013	SPEN	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	8510	MMP23B	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	7798	LUZP1	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	6497	SKI	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	10630	PDPN	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	3339	HSPG2	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	10277	UBE4B	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	8514	KCNAB2	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	473	RERE	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	63976	PRDM16	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	54897	CASZ1	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	1822	ATN1	ORPHA:101
HP:0012547	Abnormal involuntary eye movements	472	ATM	ORPHA:100
HP:0012547	Abnormal involuntary eye movements	472	ATM	OMIM:208900
HP:0012547	Abnormal involuntary eye movements	55210	ATAD3A	ORPHA:496790
HP:0012547	Abnormal involuntary eye movements	55210	ATAD3A	OMIM:617183
HP:0012547	Abnormal involuntary eye movements	5605	MAP2K2	OMIM:615280
HP:0012547	Abnormal involuntary eye movements	5605	MAP2K2	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	4644	MYO5A	ORPHA:33445
HP:0012547	Abnormal involuntary eye movements	4644	MYO5A	ORPHA:79476
HP:0012547	Abnormal involuntary eye movements	54828	BCAS3	OMIM:619641
HP:0012547	Abnormal involuntary eye movements	1615	DARS1	OMIM:615281
HP:0012547	Abnormal involuntary eye movements	122961	ISCA2	OMIM:616370
HP:0012547	Abnormal involuntary eye movements	2232	FDXR	ORPHA:543470
HP:0012547	Abnormal involuntary eye movements	2232	FDXR	OMIM:617717
HP:0012547	Abnormal involuntary eye movements	3913	LAMB2	OMIM:614199
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:616138
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:271245
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:607459
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	ORPHA:70595
HP:0012547	Abnormal involuntary eye movements	23400	ATP13A2	OMIM:617225
HP:0012547	Abnormal involuntary eye movements	23400	ATP13A2	ORPHA:306674
HP:0012547	Abnormal involuntary eye movements	200424	TET3	OMIM:618798
HP:0012547	Abnormal involuntary eye movements	9711	RUBCN	ORPHA:404499
HP:0012547	Abnormal involuntary eye movements	9711	RUBCN	OMIM:615705
HP:0012547	Abnormal involuntary eye movements	57192	MCOLN1	ORPHA:578
HP:0012547	Abnormal involuntary eye movements	5917	RARS1	OMIM:616140
HP:0012547	Abnormal involuntary eye movements	5917	RARS1	ORPHA:438114
HP:0012547	Abnormal involuntary eye movements	197258	FCSK	OMIM:618324
HP:0012547	Abnormal involuntary eye movements	2395	FXN	OMIM:229300
HP:0012547	Abnormal involuntary eye movements	2395	FXN	ORPHA:95
HP:0012547	Abnormal involuntary eye movements	57679	ALS2	OMIM:205100
HP:0012547	Abnormal involuntary eye movements	57679	ALS2	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	8565	YARS1	OMIM:619418
HP:0012547	Abnormal involuntary eye movements	84168	ANTXR1	OMIM:230740
HP:0012547	Abnormal involuntary eye movements	84168	ANTXR1	ORPHA:2067
HP:0012547	Abnormal involuntary eye movements	84131	CEP78	OMIM:617236
HP:0012547	Abnormal involuntary eye movements	25836	NIPBL	OMIM:122470
HP:0012547	Abnormal involuntary eye movements	25836	NIPBL	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	6533	SLC6A6	OMIM:145350
HP:0012547	Abnormal involuntary eye movements	100151683	RNU4ATAC	ORPHA:1824
HP:0012547	Abnormal involuntary eye movements	100151683	RNU4ATAC	OMIM:226960
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:79443
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:79444
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:103580
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:94089
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:612463
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:612462
HP:0012547	Abnormal involuntary eye movements	84295	PHF6	ORPHA:127
HP:0012547	Abnormal involuntary eye movements	84295	PHF6	OMIM:301900
HP:0012547	Abnormal involuntary eye movements	5654	HTRA1	OMIM:600142
HP:0012547	Abnormal involuntary eye movements	85300	ATCAY	OMIM:601238
HP:0012547	Abnormal involuntary eye movements	85300	ATCAY	ORPHA:94122
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	OMIM:266920
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	120	ADD3	OMIM:617008
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	OMIM:204000
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	OMIM:601777
HP:0012547	Abnormal involuntary eye movements	2583	B4GALNT1	OMIM:609195
HP:0012547	Abnormal involuntary eye movements	5813	PURA	OMIM:616158
HP:0012547	Abnormal involuntary eye movements	1642	DDB1	OMIM:619426
HP:0012547	Abnormal involuntary eye movements	343035	RD3	OMIM:610612
HP:0012547	Abnormal involuntary eye movements	343035	RD3	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	4157	MC1R	ORPHA:79432
HP:0012547	Abnormal involuntary eye movements	4157	MC1R	OMIM:203200
HP:0012547	Abnormal involuntary eye movements	4948	OCA2	ORPHA:79432
HP:0012547	Abnormal involuntary eye movements	4948	OCA2	OMIM:203200
HP:0012547	Abnormal involuntary eye movements	4001	LMNB1	ORPHA:99027
HP:0012547	Abnormal involuntary eye movements	4001	LMNB1	OMIM:169500
HP:0012547	Abnormal involuntary eye movements	7306	TYRP1	ORPHA:79433
HP:0012547	Abnormal involuntary eye movements	7306	TYRP1	OMIM:203290
HP:0012547	Abnormal involuntary eye movements	51151	SLC45A2	ORPHA:79435
HP:0012547	Abnormal involuntary eye movements	51151	SLC45A2	OMIM:606574
HP:0012547	Abnormal involuntary eye movements	1203	CLN5	ORPHA:228360
HP:0012547	Abnormal involuntary eye movements	1203	CLN5	OMIM:256731
HP:0012547	Abnormal involuntary eye movements	64132	XYLT2	OMIM:605822
HP:0012547	Abnormal involuntary eye movements	64132	XYLT2	ORPHA:85194
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	OMIM:133540
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90324
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	OMIM:214150
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	OMIM:600132
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	OMIM:613843
HP:0012547	Abnormal involuntary eye movements	10059	DNM1L	ORPHA:330050
HP:0012547	Abnormal involuntary eye movements	10059	DNM1L	ORPHA:98673
HP:0012547	Abnormal involuntary eye movements	92840	REEP6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6094	ROM1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6017	RLBP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7401	CLRN1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	24	ABCA4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	130557	ZNF513	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	92211	CDHR1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23568	ARL2BP	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	OMIM:204100
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	OMIM:613794
HP:0012547	Abnormal involuntary eye movements	6101	RP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3419	IDH3A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4751	NEK2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	346007	EYS	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8100	IFT88	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23020	SNRNP200	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	762	CA4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	138050	HGSNAT	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	196	AHR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	OMIM:613837
HP:0012547	Abnormal involuntary eye movements	1406	CRX	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1406	CRX	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	1406	CRX	OMIM:613829
HP:0012547	Abnormal involuntary eye movements	5148	PDE6G	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	26121	PRPF31	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4117	MAK	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	25794	FSCN2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	375298	CERKL	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3420	IDH3B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57670	KIAA1549	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7275	TUB	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	24148	PRPF6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	OMIM:600105
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	OMIM:613835
HP:0012547	Abnormal involuntary eye movements	10461	MERTK	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57709	SLC7A14	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	768206	PRCD	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7399	USH2A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7399	USH2A	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	23370	ARHGEF18	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5949	RBP3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6010	RHO	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6010	RHO	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6100	RP9	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10002	NR2E3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	OMIM:613341
HP:0012547	Abnormal involuntary eye movements	84140	FAM161A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	OMIM:604232
HP:0012547	Abnormal involuntary eye movements	79797	ZNF408	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	403	ARL3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	403	ARL3	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	5145	PDE6A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10210	TOPORS	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10210	TOPORS	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	8842	PROM1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8842	PROM1	OMIM:612095
HP:0012547	Abnormal involuntary eye movements	9128	PRPF4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	145226	RDH12	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	145226	RDH12	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	50939	IMPG2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8481	OFD1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8481	OFD1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	2979	GUCA1B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1259	CNGA1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1258	CNGB1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	60509	AGBL5	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5961	PRPH2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	388939	PCARE	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7439	BEST1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7439	BEST1	OMIM:193220
HP:0012547	Abnormal involuntary eye movements	9785	DHX38	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5995	RGR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9129	PRPF3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55975	KLHL7	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3617	IMPG1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	94137	RP1L1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5158	PDE6B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5158	PDE6B	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6102	RP2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55857	KIZ	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	64218	SEMA4A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4901	NRL	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10594	PRPF8	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:75382
HP:0012547	Abnormal involuntary eye movements	8473	OGT	OMIM:300997
HP:0012547	Abnormal involuntary eye movements	4311	MME	OMIM:617018
HP:0012547	Abnormal involuntary eye movements	8573	CASK	OMIM:300749
HP:0012547	Abnormal involuntary eye movements	8573	CASK	ORPHA:163937
HP:0012547	Abnormal involuntary eye movements	1798	DPAGT1	OMIM:608093
HP:0012547	Abnormal involuntary eye movements	1798	DPAGT1	ORPHA:86309
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	OMIM:608091
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	9526	MPDU1	OMIM:609180
HP:0012547	Abnormal involuntary eye movements	128869	PIGU	OMIM:618590
HP:0012547	Abnormal involuntary eye movements	11277	TREX1	OMIM:225750
HP:0012547	Abnormal involuntary eye movements	11277	TREX1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	6809	STX3	OMIM:619446
HP:0012547	Abnormal involuntary eye movements	57520	HECW2	OMIM:617268
HP:0012547	Abnormal involuntary eye movements	8492	PRSS12	OMIM:249500
HP:0012547	Abnormal involuntary eye movements	2784	GNB3	OMIM:617024
HP:0012547	Abnormal involuntary eye movements	2784	GNB3	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	4952	OCRL	ORPHA:534
HP:0012547	Abnormal involuntary eye movements	427	ASAH1	ORPHA:333
HP:0012547	Abnormal involuntary eye movements	92255	LMBRD2	OMIM:619694
HP:0012547	Abnormal involuntary eye movements	4647	MYO7A	OMIM:276900
HP:0012547	Abnormal involuntary eye movements	4647	MYO7A	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	10083	USH1C	OMIM:276900
HP:0012547	Abnormal involuntary eye movements	3858	KRT10	OMIM:609165
HP:0012547	Abnormal involuntary eye movements	8260	NAA10	ORPHA:568
HP:0012547	Abnormal involuntary eye movements	54880	BCOR	ORPHA:568
HP:0012547	Abnormal involuntary eye movements	51102	MECR	OMIM:617282
HP:0012547	Abnormal involuntary eye movements	51102	MECR	ORPHA:508093
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	OMIM:601675
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	1301	COL11A1	ORPHA:560
HP:0012547	Abnormal involuntary eye movements	5631	PRPS1	OMIM:301835
HP:0012547	Abnormal involuntary eye movements	5631	PRPS1	ORPHA:1187
HP:0012547	Abnormal involuntary eye movements	4935	GPR143	OMIM:300500
HP:0012547	Abnormal involuntary eye movements	4935	GPR143	ORPHA:54
HP:0012547	Abnormal involuntary eye movements	9758	FRMPD4	OMIM:300983
HP:0012547	Abnormal involuntary eye movements	6297	SALL2	OMIM:216820
HP:0012547	Abnormal involuntary eye movements	64374	SIL1	ORPHA:559
HP:0012547	Abnormal involuntary eye movements	64374	SIL1	OMIM:248800
HP:0012547	Abnormal involuntary eye movements	51763	INPP5K	ORPHA:559
HP:0012547	Abnormal involuntary eye movements	4548	MTR	OMIM:250940
HP:0012547	Abnormal involuntary eye movements	3028	HSD17B10	ORPHA:391428
HP:0012547	Abnormal involuntary eye movements	3028	HSD17B10	OMIM:300438
HP:0012547	Abnormal involuntary eye movements	50801	KCNK4	OMIM:618381
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	OMIM:617050
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	ORPHA:54
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	ORPHA:1000
HP:0012547	Abnormal involuntary eye movements	9757	KMT2B	ORPHA:589618
HP:0012547	Abnormal involuntary eye movements	9757	KMT2B	OMIM:619934
HP:0012547	Abnormal involuntary eye movements	57498	KIDINS220	OMIM:617296
HP:0012547	Abnormal involuntary eye movements	57498	KIDINS220	ORPHA:521390
HP:0012547	Abnormal involuntary eye movements	29957	SLC25A24	ORPHA:2095
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	OMIM:277170
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	57187	THOC2	OMIM:300957
HP:0012547	Abnormal involuntary eye movements	57187	THOC2	ORPHA:457240
HP:0012547	Abnormal involuntary eye movements	10526	IPO8	OMIM:619472
HP:0012547	Abnormal involuntary eye movements	54539	NDUFB11	OMIM:300952
HP:0012547	Abnormal involuntary eye movements	54539	NDUFB11	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	94005	PIGS	OMIM:618143
HP:0012547	Abnormal involuntary eye movements	3257	HPS1	OMIM:203300
HP:0012547	Abnormal involuntary eye movements	57010	CABP4	OMIM:610427
HP:0012547	Abnormal involuntary eye movements	57010	CABP4	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	136647	MPLKIP	OMIM:234050
HP:0012547	Abnormal involuntary eye movements	136647	MPLKIP	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	100147744	RNU7-1	OMIM:619487
HP:0012547	Abnormal involuntary eye movements	100147744	RNU7-1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	6872	TAF1	OMIM:300966
HP:0012547	Abnormal involuntary eye movements	374879	ZNF699	OMIM:619488
HP:0012547	Abnormal involuntary eye movements	134353	LSM11	OMIM:619486
HP:0012547	Abnormal involuntary eye movements	134353	LSM11	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	9373	PLAA	ORPHA:521426
HP:0012547	Abnormal involuntary eye movements	9373	PLAA	OMIM:617527
HP:0012547	Abnormal involuntary eye movements	55717	WDR11	OMIM:620237
HP:0012547	Abnormal involuntary eye movements	55717	WDR11	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	9573	GDF3	OMIM:613703
HP:0012547	Abnormal involuntary eye movements	392255	GDF6	OMIM:613703
HP:0012547	Abnormal involuntary eye movements	392255	GDF6	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	ORPHA:542306
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	OMIM:617173
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	OMIM:617182
HP:0012547	Abnormal involuntary eye movements	7284	TUFM	OMIM:610678
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	OMIM:609136
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	ORPHA:163746
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	OMIM:611584
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	OMIM:614872
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	OMIM:614867
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	OMIM:617370
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	OMIM:614877
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:95433
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	OMIM:614863
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	OMIM:614920
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	OMIM:214100
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	OMIM:266510
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	OMIM:614871
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5264	PHYH	ORPHA:773
HP:0012547	Abnormal involuntary eye movements	5264	PHYH	OMIM:266500
HP:0012547	Abnormal involuntary eye movements	5191	PEX7	ORPHA:773
HP:0012547	Abnormal involuntary eye movements	5191	PEX7	OMIM:266500
HP:0012547	Abnormal involuntary eye movements	10479	SLC9A6	ORPHA:85278
HP:0012547	Abnormal involuntary eye movements	63899	NSUN3	OMIM:619012
HP:0012547	Abnormal involuntary eye movements	54187	NANS	OMIM:610442
HP:0012547	Abnormal involuntary eye movements	1968	EIF2S3	ORPHA:85282
HP:0012547	Abnormal involuntary eye movements	81615	TMEM163	OMIM:620243
HP:0012547	Abnormal involuntary eye movements	54936	ADPRS	OMIM:618170
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	OMIM:619260
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	OMIM:608553
HP:0012547	Abnormal involuntary eye movements	114034	TOE1	ORPHA:284339
HP:0012547	Abnormal involuntary eye movements	114034	TOE1	OMIM:614969
HP:0012547	Abnormal involuntary eye movements	9562	MINPP1	ORPHA:284339
HP:0012547	Abnormal involuntary eye movements	9562	MINPP1	OMIM:619527
HP:0012547	Abnormal involuntary eye movements	84842	HPDL	OMIM:619026
HP:0012547	Abnormal involuntary eye movements	284361	EMC10	OMIM:619264
HP:0012547	Abnormal involuntary eye movements	1414	CRYBB1	OMIM:611544
HP:0012547	Abnormal involuntary eye movements	1414	CRYBB1	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	2260	FGFR1	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	2260	FGFR1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	128674	PROKR2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	128674	PROKR2	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6657	SOX2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	9915	ARNT2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	8820	HESX1	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	8820	HESX1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	5015	OTX2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	4693	NDP	OMIM:305390
HP:0012547	Abnormal involuntary eye movements	4693	NDP	ORPHA:649
HP:0012547	Abnormal involuntary eye movements	6095	RORA	OMIM:618060
HP:0012547	Abnormal involuntary eye movements	50964	SOST	OMIM:269500
HP:0012547	Abnormal involuntary eye movements	23241	PACS2	OMIM:618067
HP:0012547	Abnormal involuntary eye movements	673	BRAF	OMIM:115150
HP:0012547	Abnormal involuntary eye movements	673	BRAF	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	57539	WDR35	OMIM:613610
HP:0012547	Abnormal involuntary eye movements	57539	WDR35	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	123263	MTFMT	OMIM:614947
HP:0012547	Abnormal involuntary eye movements	123263	MTFMT	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	2780	GNAT2	OMIM:613856
HP:0012547	Abnormal involuntary eye movements	79581	SLC52A2	OMIM:614707
HP:0012547	Abnormal involuntary eye movements	64324	NSD1	ORPHA:821
HP:0012547	Abnormal involuntary eye movements	64324	NSD1	OMIM:117550
HP:0012547	Abnormal involuntary eye movements	29072	SETD2	ORPHA:821
HP:0012547	Abnormal involuntary eye movements	10297	APC2	ORPHA:821
HP:0012547	Abnormal involuntary eye movements	146167	SLC38A8	OMIM:609218
HP:0012547	Abnormal involuntary eye movements	1638	DCT	OMIM:619165
HP:0012547	Abnormal involuntary eye movements	80055	PGAP1	OMIM:615802
HP:0012547	Abnormal involuntary eye movements	54476	RNF216	OMIM:212840
HP:0012547	Abnormal involuntary eye movements	54476	RNF216	ORPHA:1173
HP:0012547	Abnormal involuntary eye movements	1717	DHCR7	ORPHA:818
HP:0012547	Abnormal involuntary eye movements	1717	DHCR7	OMIM:270400
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:812
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:93400
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	OMIM:256550
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:93399
HP:0012547	Abnormal involuntary eye movements	55780	ERMARD	ORPHA:75857
HP:0012547	Abnormal involuntary eye movements	4884	NPTX1	OMIM:620158
HP:0012547	Abnormal involuntary eye movements	10978	CLP1	OMIM:615803
HP:0012547	Abnormal involuntary eye movements	4038	LRP4	ORPHA:3258
HP:0012547	Abnormal involuntary eye movements	324	APC	ORPHA:3258
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	ORPHA:319514
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	OMIM:608703
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	ORPHA:101111
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	OMIM:614932
HP:0012547	Abnormal involuntary eye movements	63915	BLOC1S5	OMIM:619172
HP:0012547	Abnormal involuntary eye movements	1185	CLCN6	OMIM:619173
HP:0012547	Abnormal involuntary eye movements	25839	COG4	ORPHA:263501
HP:0012547	Abnormal involuntary eye movements	25839	COG4	OMIM:613489
HP:0012547	Abnormal involuntary eye movements	64207	IRF2BPL	OMIM:618088
HP:0012547	Abnormal involuntary eye movements	55157	DARS2	ORPHA:137898
HP:0012547	Abnormal involuntary eye movements	55157	DARS2	OMIM:611105
HP:0012547	Abnormal involuntary eye movements	8792	TNFRSF11A	OMIM:612301
HP:0012547	Abnormal involuntary eye movements	8792	TNFRSF11A	ORPHA:1782
HP:0012547	Abnormal involuntary eye movements	9570	GOSR2	OMIM:620166
HP:0012547	Abnormal involuntary eye movements	672	BRCA1	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	10459	MAD2L2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	7516	XRCC2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	29089	UBE2T	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	675	BRCA2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	55120	FANCL	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2177	FANCD2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2175	FANCA	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2187	FANCB	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2176	FANCC	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2178	FANCE	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2188	FANCF	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2189	FANCG	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	5888	RAD51	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	5889	RAD51C	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	55159	RFWD3	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	83990	BRIP1	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	57697	FANCM	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	79728	PALB2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	84464	SLX4	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	OMIM:278760
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	55215	FANCI	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	54675	CRLS1	OMIM:620167
HP:0012547	Abnormal involuntary eye movements	823	CAPN1	OMIM:616907
HP:0012547	Abnormal involuntary eye movements	222663	SCUBE3	OMIM:619184
HP:0012547	Abnormal involuntary eye movements	7274	TTPA	ORPHA:96
HP:0012547	Abnormal involuntary eye movements	23036	ZNF292	OMIM:619188
HP:0012547	Abnormal involuntary eye movements	4598	MVK	OMIM:610377
HP:0012547	Abnormal involuntary eye movements	25942	SIN3A	OMIM:613406
HP:0012547	Abnormal involuntary eye movements	25942	SIN3A	ORPHA:94065
HP:0012547	Abnormal involuntary eye movements	53834	FGFRL1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	1487	CTBP1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	1487	CTBP1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	OMIM:620089
HP:0012547	Abnormal involuntary eye movements	7468	NSD2	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	7468	NSD2	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	10815	CPLX1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	10815	CPLX1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	57465	TBC1D24	OMIM:608105
HP:0012547	Abnormal involuntary eye movements	79152	FA2H	OMIM:612319
HP:0012547	Abnormal involuntary eye movements	3475	IFRD1	ORPHA:98771
HP:0012547	Abnormal involuntary eye movements	7840	ALMS1	ORPHA:64
HP:0012547	Abnormal involuntary eye movements	7840	ALMS1	OMIM:203800
HP:0012547	Abnormal involuntary eye movements	57096	RPGRIP1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10383	TUBB4B	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10383	TUBB4B	OMIM:617879
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	OMIM:608940
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	ORPHA:85167
HP:0012547	Abnormal involuntary eye movements	9657	IQCB1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	23746	AIPL1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	7025	NR2F1	ORPHA:401777
HP:0012547	Abnormal involuntary eye movements	7025	NR2F1	OMIM:615722
HP:0012547	Abnormal involuntary eye movements	90624	LYRM7	OMIM:615838
HP:0012547	Abnormal involuntary eye movements	3748	KCNC3	ORPHA:98768
HP:0012547	Abnormal involuntary eye movements	3748	KCNC3	OMIM:605259
HP:0012547	Abnormal involuntary eye movements	493856	CISD2	ORPHA:3463
HP:0012547	Abnormal involuntary eye movements	7466	WFS1	ORPHA:3463
HP:0012547	Abnormal involuntary eye movements	7466	WFS1	OMIM:222300
HP:0012547	Abnormal involuntary eye movements	80704	SLC19A3	OMIM:607483
HP:0012547	Abnormal involuntary eye movements	80704	SLC19A3	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	724066	ATXN8	ORPHA:98760
HP:0012547	Abnormal involuntary eye movements	724066	ATXN8	OMIM:608768
HP:0012547	Abnormal involuntary eye movements	6315	ATXN8OS	ORPHA:98760
HP:0012547	Abnormal involuntary eye movements	6315	ATXN8OS	OMIM:608768
HP:0012547	Abnormal involuntary eye movements	23503	ZFYVE26	OMIM:270700
HP:0012547	Abnormal involuntary eye movements	23503	ZFYVE26	ORPHA:100996
HP:0012547	Abnormal involuntary eye movements	1737	DLAT	OMIM:245348
HP:0012547	Abnormal involuntary eye movements	492	ATP2B3	OMIM:302500
HP:0012547	Abnormal involuntary eye movements	4784	NFIX	OMIM:614753
HP:0012547	Abnormal involuntary eye movements	4784	NFIX	ORPHA:420179
HP:0012547	Abnormal involuntary eye movements	64135	IFIH1	OMIM:615846
HP:0012547	Abnormal involuntary eye movements	64135	IFIH1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	1910	EDNRB	OMIM:277580
HP:0012547	Abnormal involuntary eye movements	9101	USP8	ORPHA:401795
HP:0012547	Abnormal involuntary eye movements	8813	DPM1	OMIM:608799
HP:0012547	Abnormal involuntary eye movements	8813	DPM1	ORPHA:79322
HP:0012547	Abnormal involuntary eye movements	27086	FOXP1	OMIM:613670
HP:0012547	Abnormal involuntary eye movements	27086	FOXP1	ORPHA:391372
HP:0012547	Abnormal involuntary eye movements	340024	SLC6A19	ORPHA:2116
HP:0012547	Abnormal involuntary eye movements	57393	CLTRN	ORPHA:2116
HP:0012547	Abnormal involuntary eye movements	55149	MTPAP	OMIM:613672
HP:0012547	Abnormal involuntary eye movements	55149	MTPAP	ORPHA:254343
HP:0012547	Abnormal involuntary eye movements	6390	SDHB	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	6392	SDHD	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	644096	SDHAF1	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	2961	GTF2E2	OMIM:616943
HP:0012547	Abnormal involuntary eye movements	2961	GTF2E2	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	64116	SLC39A8	ORPHA:468699
HP:0012547	Abnormal involuntary eye movements	64116	SLC39A8	OMIM:616721
HP:0012547	Abnormal involuntary eye movements	200403	VWA3B	OMIM:616948
HP:0012547	Abnormal involuntary eye movements	3166	HMX1	OMIM:612109
HP:0012547	Abnormal involuntary eye movements	6314	ATXN7	ORPHA:94147
HP:0012547	Abnormal involuntary eye movements	6314	ATXN7	OMIM:164500
HP:0012547	Abnormal involuntary eye movements	701	BUB1B	OMIM:257300
HP:0012547	Abnormal involuntary eye movements	28962	OSTM1	OMIM:259720
HP:0012547	Abnormal involuntary eye movements	10682	EBP	OMIM:302960
HP:0012547	Abnormal involuntary eye movements	6567	SLC16A2	ORPHA:59
HP:0012547	Abnormal involuntary eye movements	5428	POLG	OMIM:607459
HP:0012547	Abnormal involuntary eye movements	5428	POLG	ORPHA:70595
HP:0012547	Abnormal involuntary eye movements	9990	SLC12A6	ORPHA:1496
HP:0012547	Abnormal involuntary eye movements	57165	GJC2	OMIM:613206
HP:0012547	Abnormal involuntary eye movements	57165	GJC2	OMIM:608804
HP:0012547	Abnormal involuntary eye movements	57724	EPG5	ORPHA:1493
HP:0012547	Abnormal involuntary eye movements	57724	EPG5	OMIM:242840
HP:0012547	Abnormal involuntary eye movements	9230	RAB11B	OMIM:617807
HP:0012547	Abnormal involuntary eye movements	10535	RNASEH2A	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	84153	RNASEH2C	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	84153	RNASEH2C	OMIM:610329
HP:0012547	Abnormal involuntary eye movements	25939	SAMHD1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	79621	RNASEH2B	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	4976	OPA1	OMIM:210000
HP:0012547	Abnormal involuntary eye movements	4976	OPA1	ORPHA:98673
HP:0012547	Abnormal involuntary eye movements	54704	PDP1	OMIM:608782
HP:0012547	Abnormal involuntary eye movements	7490	WT1	OMIM:106210
HP:0012547	Abnormal involuntary eye movements	7490	WT1	ORPHA:893
HP:0012547	Abnormal involuntary eye movements	10075	HUWE1	OMIM:309590
HP:0012547	Abnormal involuntary eye movements	8733	GPAA1	OMIM:617810
HP:0012547	Abnormal involuntary eye movements	8733	GPAA1	ORPHA:529665
HP:0012547	Abnormal involuntary eye movements	79848	CSPP1	OMIM:615636
HP:0012547	Abnormal involuntary eye movements	79848	CSPP1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	4308	TRPM1	OMIM:613216
HP:0012547	Abnormal involuntary eye movements	4308	TRPM1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	10586	MAB21L2	OMIM:615877
HP:0012547	Abnormal involuntary eye movements	55593	OTUD5	OMIM:301056
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:216360
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:613550
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:615991
HP:0012547	Abnormal involuntary eye movements	9150	CTDP1	OMIM:604168
HP:0012547	Abnormal involuntary eye movements	9150	CTDP1	ORPHA:48431
HP:0012547	Abnormal involuntary eye movements	1806	DPYD	OMIM:274270
HP:0012547	Abnormal involuntary eye movements	1806	DPYD	ORPHA:1675
HP:0012547	Abnormal involuntary eye movements	84816	RTN4IP1	OMIM:616732
HP:0012547	Abnormal involuntary eye movements	2782	GNB1	OMIM:616973
HP:0012547	Abnormal involuntary eye movements	2782	GNB1	ORPHA:488613
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	ORPHA:1475
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	ORPHA:97362
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	OMIM:120330
HP:0012547	Abnormal involuntary eye movements	8085	KMT2D	ORPHA:2322
HP:0012547	Abnormal involuntary eye movements	7403	KDM6A	ORPHA:2322
HP:0012547	Abnormal involuntary eye movements	7403	KDM6A	OMIM:300867
HP:0012547	Abnormal involuntary eye movements	57505	AARS2	OMIM:615889
HP:0012547	Abnormal involuntary eye movements	79644	SRD5A3	OMIM:612379
HP:0012547	Abnormal involuntary eye movements	79644	SRD5A3	ORPHA:324737
HP:0012547	Abnormal involuntary eye movements	10413	YAP1	ORPHA:1473
HP:0012547	Abnormal involuntary eye movements	50	ACO2	OMIM:614559
HP:0012547	Abnormal involuntary eye movements	3778	KCNMA1	ORPHA:79137
HP:0012547	Abnormal involuntary eye movements	3778	KCNMA1	OMIM:618729
HP:0012547	Abnormal involuntary eye movements	4810	NHS	OMIM:302350
HP:0012547	Abnormal involuntary eye movements	4810	NHS	ORPHA:627
HP:0012547	Abnormal involuntary eye movements	4694	NDUFA1	OMIM:301020
HP:0012547	Abnormal involuntary eye movements	4694	NDUFA1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4041	LRP5	ORPHA:2790
HP:0012547	Abnormal involuntary eye movements	23732	FRRS1L	OMIM:616981
HP:0012547	Abnormal involuntary eye movements	9401	RECQL4	ORPHA:1225
HP:0012547	Abnormal involuntary eye movements	440435	GPR179	OMIM:614565
HP:0012547	Abnormal involuntary eye movements	440435	GPR179	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	10560	SLC19A2	OMIM:249270
HP:0012547	Abnormal involuntary eye movements	6326	SCN2A	OMIM:618924
HP:0012547	Abnormal involuntary eye movements	4358	MPV17	OMIM:256810
HP:0012547	Abnormal involuntary eye movements	3796	KIF2A	OMIM:615411
HP:0012547	Abnormal involuntary eye movements	91137	SLC25A46	OMIM:616505
HP:0012547	Abnormal involuntary eye movements	91137	SLC25A46	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	259232	NALCN	OMIM:615419
HP:0012547	Abnormal involuntary eye movements	259232	NALCN	ORPHA:371364
HP:0012547	Abnormal involuntary eye movements	51524	TMEM138	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	23090	ZNF423	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	OMIM:612285
HP:0012547	Abnormal involuntary eye movements	55764	IFT122	OMIM:218330
HP:0012547	Abnormal involuntary eye movements	55764	IFT122	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	149461	CLDN19	OMIM:248190
HP:0012547	Abnormal involuntary eye movements	149461	CLDN19	ORPHA:2196
HP:0012547	Abnormal involuntary eye movements	22926	ATF6	OMIM:616517
HP:0012547	Abnormal involuntary eye movements	9750	RIPOR2	OMIM:616515
HP:0012547	Abnormal involuntary eye movements	9361	LONP1	ORPHA:1458
HP:0012547	Abnormal involuntary eye movements	23476	BRD4	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	9126	SMC3	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	8243	SMC1A	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	55869	HDAC8	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	5885	RAD21	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	64840	PORCN	OMIM:305600
HP:0012547	Abnormal involuntary eye movements	9997	SCO2	OMIM:604377
HP:0012547	Abnormal involuntary eye movements	9997	SCO2	ORPHA:70474
HP:0012547	Abnormal involuntary eye movements	157680	VPS13B	ORPHA:193
HP:0012547	Abnormal involuntary eye movements	8270	LAGE3	OMIM:301006
HP:0012547	Abnormal involuntary eye movements	64857	PLEKHG2	OMIM:616763
HP:0012547	Abnormal involuntary eye movements	26503	SLC17A5	OMIM:604369
HP:0012547	Abnormal involuntary eye movements	26503	SLC17A5	OMIM:269920
HP:0012547	Abnormal involuntary eye movements	2893	GRIA4	OMIM:617864
HP:0012547	Abnormal involuntary eye movements	60482	SLC5A7	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	4649	MYO9A	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	4649	MYO9A	OMIM:618198
HP:0012547	Abnormal involuntary eye movements	1305	COL13A1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	1103	CHAT	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6576	SLC25A1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6843	VAMP1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	375790	AGRN	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	127833	SYT2	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6572	SLC18A3	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6616	SNAP25	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6785	ELOVL4	OMIM:133190
HP:0012547	Abnormal involuntary eye movements	6785	ELOVL4	ORPHA:1955
HP:0012547	Abnormal involuntary eye movements	84628	NTNG2	OMIM:618718
HP:0012547	Abnormal involuntary eye movements	5456	POU3F4	ORPHA:1435
HP:0012547	Abnormal involuntary eye movements	91942	NDUFAF2	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	91942	NDUFAF2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	91942	NDUFAF2	OMIM:618233
HP:0012547	Abnormal involuntary eye movements	6834	SURF1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	6834	SURF1	ORPHA:70474
HP:0012547	Abnormal involuntary eye movements	4723	NDUFV1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4723	NDUFV1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	55572	FOXRED1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	55572	FOXRED1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2	OMIM:618229
HP:0012547	Abnormal involuntary eye movements	55967	NDUFA12	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	51204	TACO1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	OMIM:618228
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	ORPHA:70474
HP:0012547	Abnormal involuntary eye movements	4724	NDUFS4	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4724	NDUFS4	OMIM:252010
HP:0012547	Abnormal involuntary eye movements	4724	NDUFS4	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	137682	NDUFAF6	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4722	NDUFS3	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4722	NDUFS3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	79133	NDUFAF5	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	79133	NDUFAF5	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	79133	NDUFAF5	OMIM:618238
HP:0012547	Abnormal involuntary eye movements	5160	PDHA1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	1355	COX15	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	51079	NDUFA13	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	374291	NDUFS7	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	374291	NDUFS7	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4705	NDUFA10	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	51601	LIPT1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4719	NDUFS1	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4719	NDUFS1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4719	NDUFS1	OMIM:618226
HP:0012547	Abnormal involuntary eye movements	4695	NDUFA2	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4697	NDUFA4	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	4704	NDUFA9	ORPHA:255241
HP:0012547	Abnormal involuntary eye movements	652	BMP4	ORPHA:139471
HP:0012547	Abnormal involuntary eye movements	652	BMP4	OMIM:607932
HP:0012547	Abnormal involuntary eye movements	23247	KATNIP	OMIM:616784
HP:0012547	Abnormal involuntary eye movements	23247	KATNIP	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	7518	XRCC4	OMIM:616541
HP:0012547	Abnormal involuntary eye movements	6651	SON	ORPHA:500150
HP:0012547	Abnormal involuntary eye movements	387	RHOA	OMIM:618727
HP:0012547	Abnormal involuntary eye movements	85378	TUBGCP6	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	85378	TUBGCP6	OMIM:251270
HP:0012547	Abnormal involuntary eye movements	10733	PLK4	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	8139	GAN	OMIM:256850
HP:0012547	Abnormal involuntary eye movements	9851	KIAA0753	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	26123	TCTN3	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	5147	PDE6D	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	317662	FAM149B1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	374654	KIF7	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	374654	KIF7	OMIM:200990
HP:0012547	Abnormal involuntary eye movements	9699	RIMS2	OMIM:618970
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	ORPHA:363623
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	OMIM:615351
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	OMIM:615352
HP:0012547	Abnormal involuntary eye movements	8884	SLC5A6	OMIM:618973
HP:0012547	Abnormal involuntary eye movements	57647	DHX37	OMIM:618731
HP:0012547	Abnormal involuntary eye movements	3832	KIF11	OMIM:152950
HP:0012547	Abnormal involuntary eye movements	4747	NEFL	OMIM:617882
HP:0012547	Abnormal involuntary eye movements	64221	ROBO3	ORPHA:2744
HP:0012547	Abnormal involuntary eye movements	64221	ROBO3	OMIM:607313
HP:0012547	Abnormal involuntary eye movements	1630	DCC	ORPHA:2744
HP:0012547	Abnormal involuntary eye movements	1630	DCC	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	529	ATP6V1E1	OMIM:617402
HP:0012547	Abnormal involuntary eye movements	170302	ARX	ORPHA:2508
HP:0012547	Abnormal involuntary eye movements	170302	ARX	OMIM:300004
HP:0012547	Abnormal involuntary eye movements	498	ATP5F1A	OMIM:615228
HP:0012547	Abnormal involuntary eye movements	2137	EXTL3	ORPHA:508533
HP:0012547	Abnormal involuntary eye movements	5274	SERPINI1	OMIM:604218
HP:0012547	Abnormal involuntary eye movements	1409	CRYAA	OMIM:604219
HP:0012547	Abnormal involuntary eye movements	1409	CRYAA	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	23646	PLD3	OMIM:617770
HP:0012547	Abnormal involuntary eye movements	25915	NDUFAF3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	25915	NDUFAF3	ORPHA:70474
HP:0012547	Abnormal involuntary eye movements	51103	NDUFAF1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	51300	TIMMDC1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	51300	TIMMDC1	OMIM:618251
HP:0012547	Abnormal involuntary eye movements	4716	NDUFB10	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	284184	NDUFAF8	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	55863	TMEM126B	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4535	MT-ND1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4535	MT-ND1	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4537	MT-ND3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4537	MT-ND3	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4726	NDUFS6	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4726	NDUFS6	OMIM:618232
HP:0012547	Abnormal involuntary eye movements	126328	NDUFA11	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	126328	NDUFA11	OMIM:618236
HP:0012547	Abnormal involuntary eye movements	4709	NDUFB3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	80224	NUBPL	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	80224	NUBPL	OMIM:618242
HP:0012547	Abnormal involuntary eye movements	29078	NDUFAF4	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	29078	NDUFAF4	OMIM:618237
HP:0012547	Abnormal involuntary eye movements	4700	NDUFA6	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4536	MT-ND2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4536	MT-ND2	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4715	NDUFB9	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4099	MAG	OMIM:616680
HP:0012547	Abnormal involuntary eye movements	4099	MAG	ORPHA:459056
HP:0012547	Abnormal involuntary eye movements	6873	TAF2	OMIM:615599
HP:0012547	Abnormal involuntary eye movements	5361	PLXNA1	OMIM:619955
HP:0012547	Abnormal involuntary eye movements	755	CFAP410	OMIM:602271
HP:0012547	Abnormal involuntary eye movements	84942	WDR73	OMIM:251300
HP:0012547	Abnormal involuntary eye movements	10060	ABCC9	OMIM:619719
HP:0012547	Abnormal involuntary eye movements	2067	ERCC1	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	2067	ERCC1	OMIM:610758
HP:0012547	Abnormal involuntary eye movements	6720	SREBF1	OMIM:158310
HP:0012547	Abnormal involuntary eye movements	4538	MT-ND4	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4567	MT-TL1	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4578	MT-TW	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4577	MT-TV	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4540	MT-ND5	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4541	MT-ND6	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4566	MT-TK	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	3020	H3-3A	OMIM:619720
HP:0012547	Abnormal involuntary eye movements	65082	VPS33A	OMIM:617303
HP:0012547	Abnormal involuntary eye movements	65082	VPS33A	ORPHA:505248
HP:0012547	Abnormal involuntary eye movements	57156	TMEM63C	OMIM:619966
HP:0012547	Abnormal involuntary eye movements	112752	IFT43	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	51098	IFT52	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	51098	IFT52	OMIM:617102
HP:0012547	Abnormal involuntary eye movements	57728	WDR19	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	10559	SLC35A1	OMIM:603585
HP:0012547	Abnormal involuntary eye movements	9289	ADGRG1	OMIM:606854
HP:0012547	Abnormal involuntary eye movements	9289	ADGRG1	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	2590	GALNT2	OMIM:618885
HP:0012547	Abnormal involuntary eye movements	816	CAMK2B	OMIM:617799
HP:0012547	Abnormal involuntary eye movements	8560	DEGS1	OMIM:618404
HP:0012547	Abnormal involuntary eye movements	83480	PUS3	ORPHA:488627
HP:0012547	Abnormal involuntary eye movements	5832	ALDH18A1	OMIM:601162
HP:0012547	Abnormal involuntary eye movements	7020	TFAP2A	OMIM:113620
HP:0012547	Abnormal involuntary eye movements	343641	TGM6	ORPHA:276193
HP:0012547	Abnormal involuntary eye movements	10715	CERS1	OMIM:616230
HP:0012547	Abnormal involuntary eye movements	54872	PIGG	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	7469	NELFA	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	84504	NKX6-2	OMIM:617560
HP:0012547	Abnormal involuntary eye movements	84504	NKX6-2	ORPHA:527497
HP:0012547	Abnormal involuntary eye movements	283987	HID1	OMIM:619983
HP:0012547	Abnormal involuntary eye movements	9731	CEP104	OMIM:619988
HP:0012547	Abnormal involuntary eye movements	9731	CEP104	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	79731	NARS2	OMIM:616239
HP:0012547	Abnormal involuntary eye movements	3476	IGBP1	ORPHA:52055
HP:0012547	Abnormal involuntary eye movements	3476	IGBP1	OMIM:300472
HP:0012547	Abnormal involuntary eye movements	57167	SALL4	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	57167	SALL4	ORPHA:959
HP:0012547	Abnormal involuntary eye movements	9935	MAFB	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	1123	CHN1	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	79600	TCTN1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	51684	SUFU	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	51684	SUFU	OMIM:617757
HP:0012547	Abnormal involuntary eye movements	200894	ARL13B	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	219844	HYLS1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	219854	TMEM218	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	9786	KIAA0586	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	79867	TCTN2	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	79867	TCTN2	OMIM:616654
HP:0012547	Abnormal involuntary eye movements	80776	B9D2	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	10464	PIBF1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	80210	ARMC9	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	23116	TOGARAM1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	25776	CBY1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	27077	B9D1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	3981	LIG4	ORPHA:235
HP:0012547	Abnormal involuntary eye movements	54888	NSUN2	ORPHA:235
HP:0012547	Abnormal involuntary eye movements	1947	EFNB1	OMIM:304110
HP:0012547	Abnormal involuntary eye movements	1499	CTNNB1	OMIM:617572
HP:0012547	Abnormal involuntary eye movements	1182	CLCN3	OMIM:619512
HP:0012547	Abnormal involuntary eye movements	1182	CLCN3	OMIM:619517
HP:0012547	Abnormal involuntary eye movements	51604	PIGT	OMIM:615398
HP:0012547	Abnormal involuntary eye movements	51604	PIGT	ORPHA:369837
HP:0012547	Abnormal involuntary eye movements	54914	FOCAD	OMIM:619991
HP:0012547	Abnormal involuntary eye movements	55699	IARS2	OMIM:616007
HP:0012547	Abnormal involuntary eye movements	54902	TTC19	OMIM:615157
HP:0012547	Abnormal involuntary eye movements	286	ANK1	ORPHA:251066
HP:0012547	Abnormal involuntary eye movements	6638	SNRPN	OMIM:105830
HP:0012547	Abnormal involuntary eye movements	7337	UBE3A	OMIM:105830
HP:0012547	Abnormal involuntary eye movements	56052	ALG1	ORPHA:79327
HP:0012547	Abnormal involuntary eye movements	11234	HPS5	OMIM:614074
HP:0012547	Abnormal involuntary eye movements	4669	NAGLU	OMIM:616491
HP:0012547	Abnormal involuntary eye movements	84343	HPS3	OMIM:614072
HP:0012547	Abnormal involuntary eye movements	388552	BLOC1S3	OMIM:614077
HP:0012547	Abnormal involuntary eye movements	79803	HPS6	OMIM:614075
HP:0012547	Abnormal involuntary eye movements	84062	DTNBP1	OMIM:614076
HP:0012547	Abnormal involuntary eye movements	4849	CNOT3	OMIM:618672
HP:0012547	Abnormal involuntary eye movements	59336	PRDM13	OMIM:619761
HP:0012547	Abnormal involuntary eye movements	59336	PRDM13	OMIM:619909
HP:0012547	Abnormal involuntary eye movements	22	ABCB7	ORPHA:2802
HP:0012547	Abnormal involuntary eye movements	1356	CP	ORPHA:48818
HP:0012547	Abnormal involuntary eye movements	9338	TCEAL1	OMIM:301094
HP:0012547	Abnormal involuntary eye movements	345193	LRIT3	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	93589	CACNA2D4	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2916	GRM6	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6011	GRK1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6011	GRK1	ORPHA:75382
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	ORPHA:178333
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300600
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300476
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300071
HP:0012547	Abnormal involuntary eye movements	9187	SLC24A1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2779	GNAT1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	60506	NYX	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2556	GABRA3	OMIM:301091
HP:0012547	Abnormal involuntary eye movements	23162	MAPK8IP3	OMIM:618443
HP:0012547	Abnormal involuntary eye movements	9319	TRIP13	OMIM:617598
HP:0012547	Abnormal involuntary eye movements	85365	ALG2	OMIM:607906
HP:0012547	Abnormal involuntary eye movements	57479	PRR12	OMIM:619539
HP:0012547	Abnormal involuntary eye movements	83938	LRMDA	OMIM:615179
HP:0012547	Abnormal involuntary eye movements	11152	WDR45	OMIM:615179
HP:0012547	Abnormal involuntary eye movements	6683	SPAST	OMIM:182601
HP:0012547	Abnormal involuntary eye movements	23189	KANK1	OMIM:612900
HP:0012547	Abnormal involuntary eye movements	404672	GTF2H5	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	833	CARS1	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	7737	RNF113A	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	6897	TARS1	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2071	ERCC3	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2071	ERCC3	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	10195	ALG3	ORPHA:79321
HP:0012547	Abnormal involuntary eye movements	79053	ALG8	ORPHA:79325
HP:0012547	Abnormal involuntary eye movements	79628	SH3TC2	OMIM:601596
HP:0012547	Abnormal involuntary eye movements	79628	SH3TC2	ORPHA:99949
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	OMIM:600268
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	OMIM:609942
HP:0012547	Abnormal involuntary eye movements	81570	CLPB	OMIM:616271
HP:0012547	Abnormal involuntary eye movements	81570	CLPB	ORPHA:445038
HP:0012547	Abnormal involuntary eye movements	5587	PRKD1	OMIM:617364
HP:0012547	Abnormal involuntary eye movements	6857	SYT1	OMIM:618218
HP:0012547	Abnormal involuntary eye movements	6857	SYT1	ORPHA:522077
HP:0012547	Abnormal involuntary eye movements	10371	SEMA3A	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	81848	SPRY4	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	23767	FLRT3	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	79625	NDNF	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	2253	FGF8	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	389549	FEZF1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	3730	ANOS1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	54756	IL17RD	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	285025	CCDC141	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	60675	PROK2	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	1848	DUSP6	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6870	TACR3	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	9394	HS6ST1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	8822	FGF17	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	23111	SPART	OMIM:275900
HP:0012547	Abnormal involuntary eye movements	26277	TINF2	OMIM:268130
HP:0012547	Abnormal involuntary eye movements	5087	PBX1	ORPHA:97362
HP:0012547	Abnormal involuntary eye movements	54892	NCAPG2	OMIM:618460
HP:0012547	Abnormal involuntary eye movements	51728	POLR3K	OMIM:619310
HP:0012547	Abnormal involuntary eye movements	85476	GFM1	OMIM:609060
HP:0012547	Abnormal involuntary eye movements	23345	SYNE1	OMIM:610743
HP:0012547	Abnormal involuntary eye movements	8675	STX16	ORPHA:94089
HP:0012547	Abnormal involuntary eye movements	6548	SLC9A1	OMIM:616291
HP:0012547	Abnormal involuntary eye movements	26275	HIBCH	ORPHA:88639
HP:0012547	Abnormal involuntary eye movements	26275	HIBCH	OMIM:250620
HP:0012547	Abnormal involuntary eye movements	56521	DNAJC12	OMIM:617384
HP:0012547	Abnormal involuntary eye movements	1436	CSF1R	OMIM:618476
HP:0012547	Abnormal involuntary eye movements	54765	TRIM44	OMIM:617142
HP:0012547	Abnormal involuntary eye movements	54765	TRIM44	ORPHA:250923
HP:0012547	Abnormal involuntary eye movements	2623	GATA1	OMIM:190685
HP:0012547	Abnormal involuntary eye movements	1062	CENPE	OMIM:616051
HP:0012547	Abnormal involuntary eye movements	8878	SQSTM1	OMIM:617145
HP:0012547	Abnormal involuntary eye movements	4081	MAB21L1	OMIM:618479
HP:0012547	Abnormal involuntary eye movements	2033	EP300	ORPHA:353284
HP:0012547	Abnormal involuntary eye movements	5010	CLDN11	OMIM:619328
HP:0012547	Abnormal involuntary eye movements	1130	LYST	OMIM:214500
HP:0012547	Abnormal involuntary eye movements	79944	L2HGDH	OMIM:236792
HP:0012547	Abnormal involuntary eye movements	57551	TAOK1	OMIM:619575
HP:0012547	Abnormal involuntary eye movements	4125	MAN2B1	OMIM:248500
HP:0012547	Abnormal involuntary eye movements	29920	PYCR2	ORPHA:481152
HP:0012547	Abnormal involuntary eye movements	29920	PYCR2	OMIM:616420
HP:0012547	Abnormal involuntary eye movements	22845	DOLK	OMIM:610768
HP:0012547	Abnormal involuntary eye movements	55750	AGK	OMIM:212350
HP:0012547	Abnormal involuntary eye movements	55750	AGK	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	6898	TAT	ORPHA:28378
HP:0012547	Abnormal involuntary eye movements	112812	FDX2	OMIM:251900
HP:0012547	Abnormal involuntary eye movements	2332	FMR1	OMIM:300623
HP:0012547	Abnormal involuntary eye movements	2705	GJB1	OMIM:302800
HP:0012547	Abnormal involuntary eye movements	2705	GJB1	ORPHA:1175
HP:0012547	Abnormal involuntary eye movements	8635	RNASET2	OMIM:612951
HP:0012547	Abnormal involuntary eye movements	1200	TPP1	OMIM:609270
HP:0012547	Abnormal involuntary eye movements	668	FOXL2	OMIM:110100
HP:0012547	Abnormal involuntary eye movements	668	FOXL2	ORPHA:572333
HP:0012547	Abnormal involuntary eye movements	1938	EEF2	ORPHA:101112
HP:0012547	Abnormal involuntary eye movements	1938	EEF2	OMIM:609306
HP:0012547	Abnormal involuntary eye movements	55229	PANK4	OMIM:619593
HP:0012547	Abnormal involuntary eye movements	145173	B3GLCT	OMIM:261540
HP:0012547	Abnormal involuntary eye movements	145173	B3GLCT	ORPHA:709
HP:0012547	Abnormal involuntary eye movements	2132	EXT2	ORPHA:52022
HP:0012547	Abnormal involuntary eye movements	51317	PHF21A	ORPHA:52022
HP:0012547	Abnormal involuntary eye movements	128240	NAXE	OMIM:617186
HP:0012547	Abnormal involuntary eye movements	29123	ANKRD11	ORPHA:261250
HP:0012547	Abnormal involuntary eye movements	23287	AGTPBP1	OMIM:618276
HP:0012547	Abnormal involuntary eye movements	23287	AGTPBP1	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	ORPHA:320391
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	OMIM:614409
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	ORPHA:352641
HP:0012547	Abnormal involuntary eye movements	627	BDNF	ORPHA:893
HP:0012547	Abnormal involuntary eye movements	6904	TBCD	OMIM:617193
HP:0012547	Abnormal involuntary eye movements	777	CACNA1E	OMIM:618285
HP:0012547	Abnormal involuntary eye movements	4668	NAGA	OMIM:609241
HP:0012547	Abnormal involuntary eye movements	4668	NAGA	ORPHA:79279
HP:0012547	Abnormal involuntary eye movements	1387	CREBBP	ORPHA:353277
HP:0012547	Abnormal involuntary eye movements	9487	PIGL	OMIM:280000
HP:0012547	Abnormal involuntary eye movements	3295	HSD17B4	OMIM:261515
HP:0012547	Abnormal involuntary eye movements	3295	HSD17B4	OMIM:233400
HP:0012547	Abnormal involuntary eye movements	22800	RRAS2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	867	CBL	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	8216	LZTR1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6016	RIT1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6237	RRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5894	RAF1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	22808	MRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	200734	SPRED2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	4893	NRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6654	SOS1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6655	SOS2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5781	PTPN11	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5922	RASA2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	55074	OXR1	OMIM:213000
HP:0012547	Abnormal involuntary eye movements	3735	KARS1	OMIM:619147
HP:0012547	Abnormal involuntary eye movements	27072	VPS41	OMIM:619389
HP:0012547	Abnormal involuntary eye movements	3897	L1CAM	ORPHA:2182
HP:0012547	Abnormal involuntary eye movements	8665	EIF3F	OMIM:618295
HP:0012547	Abnormal involuntary eye movements	60481	ELOVL5	ORPHA:423296
HP:0012547	Abnormal involuntary eye movements	60481	ELOVL5	OMIM:615957
HP:0012547	Abnormal involuntary eye movements	10128	LRPPRC	OMIM:220111
HP:0012547	Abnormal involuntary eye movements	158	ADSL	OMIM:103050
HP:0012547	Abnormal involuntary eye movements	9131	AIFM1	OMIM:300232
HP:0012547	Abnormal involuntary eye movements	23769	FLRT1	ORPHA:320406
HP:0012547	Abnormal involuntary eye movements	64837	KLC2	ORPHA:320406
HP:0012547	Abnormal involuntary eye movements	64837	KLC2	OMIM:609541
HP:0012547	Abnormal involuntary eye movements	1545	CYP1B1	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2301	FOXE3	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2301	FOXE3	OMIM:610256
HP:0012547	Abnormal involuntary eye movements	5308	PITX2	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2296	FOXC1	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2296	FOXC1	ORPHA:250923
HP:0012547	Abnormal involuntary eye movements	1119	CHKA	OMIM:620023
HP:0012547	Abnormal involuntary eye movements	8496	PPFIBP1	OMIM:620024
HP:0012547	Abnormal involuntary eye movements	6091	ROBO1	OMIM:257400
HP:0012547	Abnormal involuntary eye movements	4983	OPHN1	OMIM:300486
HP:0012547	Abnormal involuntary eye movements	51218	GLRX5	ORPHA:401866
HP:0012547	Abnormal involuntary eye movements	51218	GLRX5	OMIM:616859
HP:0012547	Abnormal involuntary eye movements	1352	COX10	OMIM:619046
HP:0012547	Abnormal involuntary eye movements	100996717	NOTCH2NLC	ORPHA:2289
HP:0012547	Abnormal involuntary eye movements	23431	AP4E1	OMIM:613744
HP:0012547	Abnormal involuntary eye movements	7102	TSPAN7	OMIM:300210
HP:0012547	Abnormal involuntary eye movements	51360	MBTPS2	ORPHA:2273
HP:0012547	Abnormal involuntary eye movements	57492	ARID1B	OMIM:135900
HP:0012547	Abnormal involuntary eye movements	3899	AFF3	OMIM:619297
HP:0012547	Abnormal involuntary eye movements	55037	PTCD3	OMIM:619057
HP:0012547	Abnormal involuntary eye movements	22897	CEP164	OMIM:614845
HP:0012547	Abnormal involuntary eye movements	8546	AP3B1	OMIM:608233
HP:0012547	Abnormal involuntary eye movements	26090	ABHD12	OMIM:612674
HP:0012547	Abnormal involuntary eye movements	10352	WARS2	ORPHA:572798
HP:0012547	Abnormal involuntary eye movements	10352	WARS2	OMIM:617710
HP:0012547	Abnormal involuntary eye movements	1600	DAB1	OMIM:615945
HP:0012547	Abnormal involuntary eye movements	4338	MOCS2	OMIM:252160
HP:0012547	Abnormal involuntary eye movements	10382	TUBB4A	OMIM:612438
HP:0012547	Abnormal involuntary eye movements	5376	PMP22	ORPHA:3115
HP:0012547	Abnormal involuntary eye movements	5376	PMP22	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	4359	MPZ	ORPHA:3115
HP:0012547	Abnormal involuntary eye movements	4359	MPZ	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	443	ASPA	OMIM:271900
HP:0012547	Abnormal involuntary eye movements	5956	OPN1LW	OMIM:303700
HP:0012547	Abnormal involuntary eye movements	2652	OPN1MW	OMIM:303700
HP:0012547	Abnormal involuntary eye movements	1593	CYP27A1	ORPHA:909
HP:0012547	Abnormal involuntary eye movements	9255	AIMP1	OMIM:260600
HP:0012547	Abnormal involuntary eye movements	5149	PDE6H	OMIM:610024
HP:0012547	Abnormal involuntary eye movements	11340	EXOSC8	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	51010	EXOSC3	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	51010	EXOSC3	OMIM:614678
HP:0012547	Abnormal involuntary eye movements	7443	VRK1	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	285175	UNC80	OMIM:616801
HP:0012547	Abnormal involuntary eye movements	285175	UNC80	ORPHA:371364
HP:0012547	Abnormal involuntary eye movements	27286	SRPX2	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	157570	ESCO2	ORPHA:3103
HP:0012547	Abnormal involuntary eye movements	83475	DOHH	OMIM:620066
HP:0012547	Abnormal involuntary eye movements	10236	HNRNPR	OMIM:620073
HP:0012547	Abnormal involuntary eye movements	2521	FUS	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	10280	SIGMAR1	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	10558	SPTLC1	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	26227	PHGDH	OMIM:601815
HP:0012547	Abnormal involuntary eye movements	284217	LAMA1	OMIM:615960
HP:0012547	Abnormal involuntary eye movements	284217	LAMA1	ORPHA:370022
HP:0012547	Abnormal involuntary eye movements	3187	HNRNPH1	OMIM:620083
HP:0012547	Abnormal involuntary eye movements	7355	SLC35A2	OMIM:300896
HP:0012547	Abnormal involuntary eye movements	9968	MED12	OMIM:300895
HP:0012547	Abnormal involuntary eye movements	282809	POC1B	OMIM:615973
HP:0012547	Abnormal involuntary eye movements	85021	REPS1	OMIM:617916
HP:0012547	Abnormal involuntary eye movements	4990	SIX6	OMIM:212550
HP:0012547	Abnormal involuntary eye movements	92154	MTSS2	OMIM:620086
HP:0012547	Abnormal involuntary eye movements	51067	YARS2	OMIM:613561
HP:0012547	Abnormal involuntary eye movements	2581	GALC	OMIM:245200
HP:0012547	Abnormal involuntary eye movements	80199	FUZ	ORPHA:1136
HP:0012547	Abnormal involuntary eye movements	2703	GJA8	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	4094	MAF	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1413	CRYBA4	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1415	CRYBB2	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1421	CRYGD	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	3329	HSPD1	OMIM:612233
HP:0012547	Abnormal involuntary eye movements	1261	CNGA3	OMIM:216900
HP:0012547	Abnormal involuntary eye movements	1959	EGR2	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	57716	PRX	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	80207	OPA3	ORPHA:67036
HP:0012547	Abnormal involuntary eye movements	80207	OPA3	ORPHA:67047
HP:0012547	Abnormal involuntary eye movements	9420	CYP7B1	ORPHA:100986
HP:0012547	Abnormal involuntary eye movements	9420	CYP7B1	OMIM:270800
HP:0012547	Abnormal involuntary eye movements	29926	GMPPA	OMIM:615510
HP:0012547	Abnormal involuntary eye movements	27249	MMADHC	OMIM:277410
HP:0012547	Abnormal involuntary eye movements	291	SLC25A4	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	26007	TKFC	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	125988	MICOS13	ORPHA:67047
HP:0012547	Abnormal involuntary eye movements	6609	SMPD1	ORPHA:77293
HP:0012547	Abnormal involuntary eye movements	2058	EPRS1	OMIM:617951
HP:0012547	Abnormal involuntary eye movements	26146	TRAF3IP1	OMIM:616629
HP:0012547	Abnormal involuntary eye movements	128989	TANGO2	ORPHA:480864
HP:0012547	Abnormal involuntary eye movements	57599	WDR48	ORPHA:401800
HP:0012547	Abnormal involuntary eye movements	1641	DCX	OMIM:300067
HP:0012547	Abnormal involuntary eye movements	1001	CDH3	ORPHA:1573
HP:0012547	Abnormal involuntary eye movements	5062	PAK2	ORPHA:1571
HP:0012547	Abnormal involuntary eye movements	9419	CRIPT	OMIM:615789
HP:0012547	Abnormal involuntary eye movements	27010	TPK1	OMIM:614458
HP:0012547	Abnormal involuntary eye movements	55644	OSGEP	OMIM:617729
HP:0012547	Abnormal involuntary eye movements	79955	PDZD7	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	25861	WHRN	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	84059	ADGRV1	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	7874	USP7	ORPHA:500055
HP:0012547	Abnormal involuntary eye movements	51501	HIKESHI	OMIM:616881
HP:0012547	Abnormal involuntary eye movements	58494	JAM2	OMIM:618824
HP:0012547	Abnormal involuntary eye movements	22931	RAB18	OMIM:614222
HP:0012547	Abnormal involuntary eye movements	4337	MOCS1	OMIM:252150
HP:0012547	Abnormal involuntary eye movements	22934	RPIA	OMIM:608611
HP:0012547	Abnormal involuntary eye movements	4796	TONSL	ORPHA:93357
HP:0012547	Abnormal involuntary eye movements	26047	CNTNAP2	ORPHA:163681
HP:0012547	Abnormal involuntary eye movements	4714	NDUFB8	ORPHA:70474
HP:0012547	Abnormal involuntary eye movements	2670	GFAP	ORPHA:363722
HP:0012547	Abnormal involuntary eye movements	2073	ERCC5	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	5500	PPP1CB	OMIM:617506
HP:0012547	Abnormal involuntary eye movements	100506658	OCLN	OMIM:251290
HP:0012547	Abnormal involuntary eye movements	9197	SLC33A1	OMIM:614482
HP:0012547	Abnormal involuntary eye movements	55023	PHIP	OMIM:617991
HP:0012547	Abnormal involuntary eye movements	200205	IBA57	OMIM:615330
HP:0012547	Abnormal involuntary eye movements	22943	DKK1	ORPHA:268882
HP:0012547	Abnormal involuntary eye movements	55315	SLC29A3	ORPHA:1782
HP:0012547	Abnormal involuntary eye movements	25974	MMACHC	ORPHA:79282
HP:0012547	Abnormal involuntary eye movements	25974	MMACHC	OMIM:277400
HP:0012547	Abnormal involuntary eye movements	5718	PSMD12	OMIM:617516
HP:0012547	Abnormal involuntary eye movements	23404	EXOSC2	OMIM:617763
HP:0012547	Abnormal involuntary eye movements	22978	NT5C2	OMIM:613162
HP:0012547	Abnormal involuntary eye movements	547	KIF1A	OMIM:614255
HP:0012547	Abnormal involuntary eye movements	6736	SRY	ORPHA:1772
HP:0012547	Abnormal involuntary eye movements	55753	OGDHL	OMIM:619701
HP:0012547	Abnormal involuntary eye movements	22868	FASTKD2	OMIM:618855
HP:0012547	Abnormal involuntary eye movements	5052	PRDX1	OMIM:277400
HP:0012547	Abnormal involuntary eye movements	267010	RNU12	ORPHA:512260
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	OMIM:109150
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276244
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276241
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276238
HP:0012547	Abnormal involuntary eye movements	5393	EXOSC9	OMIM:618065
HP:0012547	Abnormal involuntary eye movements	23533	PIK3R5	ORPHA:64753
HP:0012547	Abnormal involuntary eye movements	23064	SETX	ORPHA:64753
HP:0012547	Abnormal involuntary eye movements	23064	SETX	OMIM:606002
HP:0012547	Abnormal involuntary eye movements	4361	MRE11	ORPHA:251347
HP:0012547	Abnormal involuntary eye movements	4361	MRE11	OMIM:604391
HP:0012547	Abnormal involuntary eye movements	6334	SCN8A	OMIM:614306
HP:0012547	Abnormal involuntary eye movements	785	CACNB4	OMIM:613855
HP:0012547	Abnormal involuntary eye movements	785	CACNB4	ORPHA:211067
HP:0012547	Abnormal involuntary eye movements	27235	COQ2	ORPHA:227510
HP:0012547	Abnormal involuntary eye movements	27235	COQ2	OMIM:146500
HP:0012547	Abnormal involuntary eye movements	27235	COQ2	ORPHA:98933
HP:0012547	Abnormal involuntary eye movements	55775	TDP1	ORPHA:94124
HP:0012547	Abnormal involuntary eye movements	5582	PRKCG	ORPHA:98763
HP:0012547	Abnormal involuntary eye movements	6507	SLC1A3	ORPHA:209967
HP:0012547	Abnormal involuntary eye movements	80781	COL18A1	OMIM:267750
HP:0012547	Abnormal involuntary eye movements	25814	ATXN10	ORPHA:98761
HP:0012547	Abnormal involuntary eye movements	55187	VPS13D	OMIM:607317
HP:0012547	Abnormal involuntary eye movements	6311	ATXN2	OMIM:183090
HP:0012547	Abnormal involuntary eye movements	219285	SAMD9L	OMIM:619806
HP:0012547	Abnormal involuntary eye movements	80208	SPG11	OMIM:604360
HP:0012547	Abnormal involuntary eye movements	2895	GRID2	ORPHA:363432
HP:0012547	Abnormal involuntary eye movements	7345	UCHL1	OMIM:615491
HP:0012547	Abnormal involuntary eye movements	6389	SDHA	OMIM:619259
HP:0012547	Abnormal involuntary eye movements	10273	STUB1	ORPHA:412057
HP:0012547	Abnormal involuntary eye movements	51741	WWOX	OMIM:614322
HP:0012547	Abnormal involuntary eye movements	7436	VLDLR	OMIM:224050
HP:0012547	Abnormal involuntary eye movements	54834	GDAP2	OMIM:618369
HP:0012547	Abnormal involuntary eye movements	10939	AFG3L2	OMIM:610246
HP:0012547	Abnormal involuntary eye movements	23203	PMPCA	OMIM:213200
HP:0012547	Abnormal involuntary eye movements	23203	PMPCA	ORPHA:1170
HP:0012547	Abnormal involuntary eye movements	6712	SPTBN2	OMIM:600224
HP:0012547	Abnormal involuntary eye movements	10935	PRDX3	OMIM:619862
HP:0012547	Abnormal involuntary eye movements	54664	TMEM106B	OMIM:617964
HP:0012547	Abnormal involuntary eye movements	51271	UBAP1	OMIM:618418
HP:0012547	Abnormal involuntary eye movements	5981	RFC1	OMIM:614575
HP:0012547	Abnormal involuntary eye movements	54840	APTX	OMIM:208920
HP:0012547	Abnormal involuntary eye movements	6908	TBP	OMIM:607136
HP:0012547	Abnormal involuntary eye movements	6310	ATXN1	OMIM:164400
HP:0012547	Abnormal involuntary eye movements	55703	POLR3B	OMIM:607694
HP:0012547	Abnormal involuntary eye movements	11128	POLR3A	OMIM:607694
HP:0012547	Abnormal involuntary eye movements	10749	KIF1C	ORPHA:397946
HP:0012547	Abnormal involuntary eye movements	10749	KIF1C	OMIM:611302
HP:0012547	Abnormal involuntary eye movements	92935	MARS2	OMIM:611390
HP:0012547	Abnormal involuntary eye movements	92935	MARS2	ORPHA:314603
HP:0012547	Abnormal involuntary eye movements	347734	SLC35B2	OMIM:620269
HP:0012547	Abnormal involuntary eye movements	5159	PDGFRB	OMIM:615007
HP:0012547	Abnormal involuntary eye movements	169522	KCNV2	OMIM:610356
HP:0012547	Abnormal involuntary eye movements	3417	IDH1	ORPHA:99646
HP:0012547	Abnormal involuntary eye movements	56915	EXOSC5	OMIM:619576
HP:0012547	Abnormal involuntary eye movements	55870	ASH1L	OMIM:617796
HP:0012547	Abnormal involuntary eye movements	3756	KCNH1	OMIM:135500
HP:0012547	Abnormal involuntary eye movements	23096	IQSEC2	ORPHA:397933
HP:0012547	Abnormal involuntary eye movements	23327	NEDD4L	OMIM:617201
HP:0012547	Abnormal involuntary eye movements	5660	PSAP	OMIM:610539
HP:0012547	Abnormal involuntary eye movements	4929	NR4A2	ORPHA:98808
HP:0012547	Abnormal involuntary eye movements	3615	IMPDH2	ORPHA:98808
HP:0012547	Abnormal involuntary eye movements	3035	HARS1	OMIM:614504
HP:0012547	Abnormal involuntary eye movements	79753	SNIP1	OMIM:614501
HP:0012547	Abnormal involuntary eye movements	89781	HPS4	OMIM:614073
HP:0012547	Abnormal involuntary eye movements	6182	MRPL12	OMIM:618951
HP:0012547	Abnormal involuntary eye movements	122553	TRAPPC6B	OMIM:617862
HP:0012547	Abnormal involuntary eye movements	9474	ATG5	OMIM:617584
HP:0012547	Abnormal involuntary eye movements	2625	GATA3	OMIM:146255
HP:0012547	Abnormal involuntary eye movements	9215	LARGE1	OMIM:608840
HP:0012547	Abnormal involuntary eye movements	3798	KIF5A	OMIM:617235
HP:0012547	Abnormal involuntary eye movements	1804	DPP6	ORPHA:2514
HP:0012547	Abnormal involuntary eye movements	7515	XRCC1	OMIM:617633
HP:0012547	Abnormal involuntary eye movements	57731	SPTBN4	OMIM:617519
HP:0012547	Abnormal involuntary eye movements	84233	TMEM126A	OMIM:612989
HP:0012547	Abnormal involuntary eye movements	84188	FAR1	ORPHA:447753
HP:0012547	Abnormal involuntary eye movements	84274	COQ5	OMIM:619028
HP:0012547	Abnormal involuntary eye movements	55280	CWF19L1	ORPHA:453521
HP:0012547	Abnormal involuntary eye movements	6804	STX1A	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	7461	CLIP2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	84277	DNAJC30	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	8468	FKBP6	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	5982	RFC2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	2969	GTF2I	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	3984	LIMK1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	9569	GTF2IRD1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	155382	VPS37D	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	155368	METTL27	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	114049	BUD23	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	7458	EIF4H	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	84163	GTF2IRD2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	9275	BCL7B	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	26608	TBL2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	653361	NCF1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	135886	TMEM270	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	51085	MLXIPL	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	9031	BAZ1B	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	2006	ELN	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	261734	NPHP4	OMIM:606996
HP:0012547	Abnormal involuntary eye movements	91452	ACBD5	OMIM:618863
HP:0012547	Abnormal involuntary eye movements	5528	PPP2R5D	ORPHA:457279
HP:0012547	Abnormal involuntary eye movements	51660	MPC1	OMIM:614741
HP:0012547	Abnormal involuntary eye movements	9894	TELO2	ORPHA:488642
HP:0012547	Abnormal involuntary eye movements	9894	TELO2	OMIM:616954
HP:0012547	Abnormal involuntary eye movements	8777	MPDZ	OMIM:615219
HP:0012547	Abnormal involuntary eye movements	1201	CLN3	ORPHA:228346
HP:0012547	Abnormal involuntary eye movements	2671	GFER	ORPHA:330054
HP:0012547	Abnormal involuntary eye movements	11160	ERLIN2	ORPHA:209951
HP:0012547	Abnormal involuntary eye movements	129285	PPP1R21	OMIM:619383
HP:0012547	Abnormal involuntary eye movements	55163	PNPO	OMIM:610090
HP:0012547	Abnormal involuntary eye movements	3781	KCNN2	OMIM:619724
HP:0012547	Abnormal involuntary eye movements	55503	TRPV6	OMIM:618188
HP:0012547	Abnormal involuntary eye movements	3852	KRT5	ORPHA:79396
HP:0012547	Abnormal involuntary eye movements	3861	KRT14	ORPHA:79396
HP:0012547	Abnormal involuntary eye movements	526	ATP6V1B2	ORPHA:79500
HP:0012547	Abnormal involuntary eye movements	90167	FRMD7	OMIM:310700
HP:0012547	Abnormal involuntary eye movements	221927	BRAT1	OMIM:618056
HP:0012547	Abnormal involuntary eye movements	29968	PSAT1	ORPHA:284417
HP:0012547	Abnormal involuntary eye movements	55624	POMGNT1	OMIM:253280
HP:0012547	Abnormal involuntary eye movements	6513	SLC2A1	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	2562	GABRB3	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	2554	GABRA1	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	8912	CACNA1H	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	8629	JRK	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	2566	GABRG2	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	135	ADORA2A	ORPHA:363549
HP:0012547	Abnormal involuntary eye movements	9181	ARHGEF2	OMIM:617523
HP:0012547	Abnormal involuntary eye movements	2898	GRIK2	OMIM:619580
HP:0012547	Abnormal involuntary eye movements	3708	ITPR1	OMIM:606658
HP:0012547	Abnormal involuntary eye movements	5934	RBL2	OMIM:619690
HP:0012547	Abnormal involuntary eye movements	773	CACNA1A	OMIM:183086
HP:0012547	Abnormal involuntary eye movements	773	CACNA1A	ORPHA:98758
HP:0012547	Abnormal involuntary eye movements	773	CACNA1A	ORPHA:569
HP:0012547	Abnormal involuntary eye movements	2643	GCH1	OMIM:128230
HP:0012547	Abnormal involuntary eye movements	26278	SACS	ORPHA:98
HP:0012547	Abnormal involuntary eye movements	6658	SOX3	ORPHA:67045
HP:0012547	Abnormal involuntary eye movements	146227	BEAN1	OMIM:117210
HP:0012547	Abnormal involuntary eye movements	255928	SYT14	ORPHA:284271
HP:0012547	Abnormal involuntary eye movements	255928	SYT14	OMIM:614229
HP:0012547	Abnormal involuntary eye movements	8913	CACNA1G	ORPHA:458803
HP:0012547	Abnormal involuntary eye movements	131669	UROC1	ORPHA:210128
HP:0012547	Abnormal involuntary eye movements	5081	PAX7	OMIM:618578
HP:0012547	Abnormal involuntary eye movements	54974	THG1L	OMIM:618800
HP:0012547	Abnormal involuntary eye movements	2911	GRM1	OMIM:614831
HP:0012547	Abnormal involuntary eye movements	2911	GRM1	ORPHA:324262
HP:0012547	Abnormal involuntary eye movements	3752	KCND3	OMIM:607346
HP:0012547	Abnormal involuntary eye movements	112476	PRRT2	ORPHA:569
HP:0012547	Abnormal involuntary eye movements	6323	SCN1A	ORPHA:569
HP:0012547	Abnormal involuntary eye movements	477	ATP1A2	ORPHA:569
HP:0012547	Abnormal involuntary eye movements	2259	FGF14	OMIM:620174
HP:0012547	Abnormal involuntary eye movements	5621	PRNP	ORPHA:282166
HP:0012547	Abnormal involuntary eye movements	84978	FRMD5	OMIM:620094
HP:0012547	Abnormal involuntary eye movements	23095	KIF1B	OMIM:256700
HP:0012547	Abnormal involuntary eye movements	339453	TMEM240	OMIM:607454
HP:0012547	Abnormal involuntary eye movements	2629	GBA1	ORPHA:2072
HP:0012547	Abnormal involuntary eye movements	10312	TCIRG1	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	1186	CLCN7	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	29887	SNX10	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	8600	TNFSF11	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	23556	PIGN	ORPHA:280633
HP:0012547	Abnormal involuntary eye movements	4728	NDUFS8	OMIM:618222
HP:0012547	Abnormal involuntary eye movements	1892	ECHS1	OMIM:616277
HP:0012547	Abnormal involuntary eye movements	100131801	PET100	OMIM:619055
HP:0012547	Abnormal involuntary eye movements	60529	ALX4	OMIM:613451
HP:0012547	Abnormal involuntary eye movements	9091	PIGQ	OMIM:618548
HP:0012547	Abnormal involuntary eye movements	146057	TTBK2	ORPHA:98767
HP:0012547	Abnormal involuntary eye movements	5830	PEX5	OMIM:616716
HP:0012547	Abnormal involuntary eye movements	7276	TTR	OMIM:105210
HP:0012547	Abnormal involuntary eye movements	55129	ANO10	ORPHA:284289
HP:0012547	Abnormal involuntary eye movements	55129	ANO10	OMIM:613728
HP:0012547	Abnormal involuntary eye movements	2196	FAT2	OMIM:617769
HP:0012547	Abnormal involuntary eye movements	8398	PLA2G6	ORPHA:35069
HP:0012547	Abnormal involuntary eye movements	27245	AHDC1	ORPHA:412069
HP:0012547	Abnormal involuntary eye movements	220202	ATOH7	OMIM:221900
HP:0012547	Abnormal involuntary eye movements	611	OPN1SW	ORPHA:88629
HP:0012547	Abnormal involuntary eye movements	9725	TMEM63A	OMIM:618688
HP:0012547	Abnormal involuntary eye movements	23636	NUP62	OMIM:271930
HP:0012547	Abnormal involuntary eye movements	79718	TBL1XR1	OMIM:602342
HP:0012547	Abnormal involuntary eye movements	79718	TBL1XR1	ORPHA:487825
HP:0012547	Abnormal involuntary eye movements	54681	P4HTM	OMIM:618493
HP:0012547	Abnormal involuntary eye movements	55714	TENM3	OMIM:615145
HP:0012547	Abnormal involuntary eye movements	3149	HMGB3	OMIM:300915
HP:0012547	Abnormal involuntary eye movements	23268	DNMBP	OMIM:618415
HP:0012547	Abnormal involuntary eye movements	8218	CLTCL1	ORPHA:453510
HP:0012547	Abnormal involuntary eye movements	347733	TUBB2B	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	7846	TUBA1A	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	10381	TUBB3	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	2760	GM2A	ORPHA:309246
HP:0012547	Abnormal involuntary eye movements	3064	HTT	ORPHA:248111
HP:0012547	Abnormal involuntary eye movements	2903	GRIN2A	ORPHA:289266
HP:0012547	Abnormal involuntary eye movements	133686	NADK2	ORPHA:431361
HP:0012547	Abnormal involuntary eye movements	93627	TBCK	ORPHA:488632
HP:0012547	Abnormal involuntary eye movements	3737	KCNA2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1759	DNM1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8120	AP3B2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	523	ATP6V1A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	10991	SLC38A3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	51343	FZR1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	22906	TRAK1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1917	EEF1A2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2561	GABRB2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8831	SYNGAP1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	7532	YWHAG	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	79876	UBA5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6328	SCN3A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2558	GABRA5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	781	CACNA2D1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2906	GRIN2D	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	116150	NUS1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	10659	CELF2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	774	CACNA1B	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1213	CLTC	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23334	SZT2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	51412	ACTL6B	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	348980	HCN1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6506	SLC1A2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8867	SYNJ1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2258	FGF13	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	3745	KCNB1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	284111	SLC13A5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	25977	NECAP1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	16	AARS1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	22866	CNKSR2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	9568	GABBR2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2555	GABRA2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	55152	DALRD3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	26999	CYFIP2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	4915	NTRK2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	25973	PARS2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23097	CDK19	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	64801	ARV1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	79947	DHDDS	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2257	FGF12	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	5530	PPP3CA	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	478	ATP1A3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	478	ATP1A3	ORPHA:2131
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:137902
HP:0012547	Abnormal involuntary eye movements	79583	TMEM231	ORPHA:2752
HP:0012547	Abnormal involuntary eye movements	6531	SLC6A3	OMIM:613135
HP:0012548	Fatty replacement of skeletal muscle	7125	TNNC2	OMIM:620161
HP:0012548	Fatty replacement of skeletal muscle	353116	RILPL1	OMIM:619790
HP:0012548	Fatty replacement of skeletal muscle	79784	MYH14	ORPHA:397744
HP:0012548	Fatty replacement of skeletal muscle	10755	GIPC1	OMIM:618940
HP:0012548	Fatty replacement of skeletal muscle	56203	LMOD3	OMIM:616165
HP:0012548	Fatty replacement of skeletal muscle	56983	POGLUT1	OMIM:617232
HP:0012548	Fatty replacement of skeletal muscle	7415	VCP	ORPHA:329478
HP:0012548	Fatty replacement of skeletal muscle	7415	VCP	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	80308	FLAD1	OMIM:255100
HP:0012548	Fatty replacement of skeletal muscle	57104	PNPLA2	ORPHA:98908
HP:0012548	Fatty replacement of skeletal muscle	64208	POPDC3	OMIM:618848
HP:0012548	Fatty replacement of skeletal muscle	311	ANXA11	OMIM:619733
HP:0012548	Fatty replacement of skeletal muscle	825	CAPN3	OMIM:618129
HP:0012548	Fatty replacement of skeletal muscle	8087	FXR1	OMIM:618823
HP:0012548	Fatty replacement of skeletal muscle	1073	CFL2	OMIM:610687
HP:0012548	Fatty replacement of skeletal muscle	779	CACNA1S	OMIM:620246
HP:0012548	Fatty replacement of skeletal muscle	4703	NEB	OMIM:256030
HP:0012548	Fatty replacement of skeletal muscle	4703	NEB	ORPHA:399103
HP:0012548	Fatty replacement of skeletal muscle	10020	GNE	ORPHA:602
HP:0012548	Fatty replacement of skeletal muscle	9499	MYOT	ORPHA:266
HP:0012548	Fatty replacement of skeletal muscle	10049	DNAJB6	ORPHA:34516
HP:0012548	Fatty replacement of skeletal muscle	23676	SMPX	OMIM:301075
HP:0012548	Fatty replacement of skeletal muscle	5375	PMP2	OMIM:618279
HP:0012548	Fatty replacement of skeletal muscle	7273	TTN	OMIM:608807
HP:0012548	Fatty replacement of skeletal muscle	79048	SECISBP2	ORPHA:171706
HP:0012548	Fatty replacement of skeletal muscle	3679	ITGA7	OMIM:613204
HP:0012548	Fatty replacement of skeletal muscle	79147	FKRP	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	2218	FKTN	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	729920	CRPPA	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	10585	POMT1	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	246329	STAC3	OMIM:255995
HP:0012548	Fatty replacement of skeletal muscle	3178	HNRNPA1	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	3181	HNRNPA2B1	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	203859	ANO5	ORPHA:206549
HP:0012542	Onychauxis	3643	INSR	OMIM:262190
HP:0012542	Onychauxis	3643	INSR	ORPHA:769
HP:0012542	Onychauxis	8323	FZD6	OMIM:161050
HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	1314	COPA	OMIM:616414
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	56244	BTNL2	OMIM:612387
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	3123	HLA-DRB1	OMIM:181000
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	7080	NKX2-1	OMIM:610978
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	6440	SFTPC	OMIM:178500
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	727897	MUC5B	OMIM:178500
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	729238	SFTPA2	OMIM:178500
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	7015	TERT	OMIM:178500
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	1314	COPA	OMIM:616414
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	653509	SFTPA1	OMIM:619611
HP:0032975	Abnormal bronchoalveolar fluid protein level	21	ABCA3	OMIM:610921
HP:0032975	Abnormal bronchoalveolar fluid protein level	6440	SFTPC	OMIM:610913
HP:0032975	Abnormal bronchoalveolar fluid protein level	6439	SFTPB	OMIM:265120
HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	56244	BTNL2	OMIM:612387
HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	3123	HLA-DRB1	OMIM:181000
HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	7080	NKX2-1	OMIM:610978
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	6440	SFTPC	OMIM:178500
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	727897	MUC5B	OMIM:178500
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	729238	SFTPA2	OMIM:178500
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	7015	TERT	OMIM:178500
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	653509	SFTPA1	OMIM:619611
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	7080	NKX2-1	OMIM:610978
HP:0032980	Absent bronchoalveolar surfactant-protein C	21	ABCA3	OMIM:610921
HP:0032980	Absent bronchoalveolar surfactant-protein C	6440	SFTPC	OMIM:610913
HP:0032981	Absent bronchoalveolar dimeric surfactant-protein B	6439	SFTPB	OMIM:265120
HP:0002330	Paroxysmal drowsiness	3060	HCRT	OMIM:161400
HP:0002331	Recurrent paroxysmal headache	22943	DKK1	ORPHA:268882
HP:0002331	Recurrent paroxysmal headache	7428	VHL	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	7428	VHL	ORPHA:276621
HP:0002331	Recurrent paroxysmal headache	1743	DLST	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	4191	MDH2	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	5979	RET	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	5979	RET	ORPHA:276621
HP:0002331	Recurrent paroxysmal headache	6389	SDHA	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	23095	KIF1B	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	2271	FH	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	8402	SLC25A11	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	54949	SDHAF2	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	55654	TMEM127	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	4763	NF1	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	6391	SDHC	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	6391	SDHC	OMIM:605373
HP:0002331	Recurrent paroxysmal headache	6392	SDHD	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	6392	SDHD	OMIM:168000
HP:0002331	Recurrent paroxysmal headache	6392	SDHD	ORPHA:276621
HP:0002331	Recurrent paroxysmal headache	6390	SDHB	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	6390	SDHB	ORPHA:276621
HP:0002331	Recurrent paroxysmal headache	6390	SDHB	OMIM:115310
HP:0002331	Recurrent paroxysmal headache	4149	MAX	ORPHA:29072
HP:0002331	Recurrent paroxysmal headache	4558	MT-TF	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4572	MT-TQ	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4512	MT-CO1	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4513	MT-CO2	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4514	MT-CO3	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4578	MT-TW	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4540	MT-ND5	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4541	MT-ND6	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4535	MT-ND1	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4538	MT-ND4	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4567	MT-TL1	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4574	MT-TS1	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4575	MT-TS2	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	4564	MT-TH	ORPHA:550
HP:0002331	Recurrent paroxysmal headache	1788	DNMT3A	ORPHA:276621
HP:0002331	Recurrent paroxysmal headache	2034	EPAS1	ORPHA:276621
HP:0002332	Lack of peer relationships	4204	MECP2	OMIM:300496
HP:0002332	Lack of peer relationships	57502	NLGN4X	OMIM:300495
HP:0002332	Lack of peer relationships	54413	NLGN3	OMIM:300425
HP:0002332	Lack of peer relationships	6513	SLC2A1	ORPHA:1942
HP:0002332	Lack of peer relationships	8831	SYNGAP1	ORPHA:1942
HP:0002332	Lack of peer relationships	1173	AP2M1	ORPHA:1942
HP:0002332	Lack of peer relationships	6323	SCN1A	ORPHA:1942
HP:0002332	Lack of peer relationships	340533	NEXMIF	ORPHA:1942
HP:0002332	Lack of peer relationships	1106	CHD2	ORPHA:1942
HP:0002332	Lack of peer relationships	6529	SLC6A1	ORPHA:1942
HP:0002333	Motor deterioration	4854	NOTCH3	ORPHA:136
HP:0002333	Motor deterioration	5660	PSAP	OMIM:249900
HP:0002333	Motor deterioration	55131	RBM28	ORPHA:157954
HP:0002333	Motor deterioration	55131	RBM28	OMIM:612079
HP:0002333	Motor deterioration	7084	TK2	ORPHA:254875
HP:0002333	Motor deterioration	5575	PRKAR1B	ORPHA:412066
HP:0002333	Motor deterioration	2581	GALC	OMIM:245200
HP:0002333	Motor deterioration	1203	CLN5	OMIM:256731
HP:0002333	Motor deterioration	6389	SDHA	ORPHA:3208
HP:0002333	Motor deterioration	6390	SDHB	ORPHA:3208
HP:0002333	Motor deterioration	6392	SDHD	ORPHA:3208
HP:0002333	Motor deterioration	644096	SDHAF1	ORPHA:3208
HP:0002333	Motor deterioration	4204	MECP2	OMIM:312750
HP:0002333	Motor deterioration	23732	FRRS1L	ORPHA:725
HP:0002333	Motor deterioration	2903	GRIN2A	ORPHA:725
HP:0002333	Motor deterioration	138050	HGSNAT	OMIM:252930
HP:0002333	Motor deterioration	2055	CLN8	ORPHA:1947
HP:0002333	Motor deterioration	5053	PAH	ORPHA:79254
HP:0002333	Motor deterioration	54982	CLN6	OMIM:601780
HP:0002333	Motor deterioration	25894	PLEKHG4	ORPHA:98765
HP:0002334	Abnormal cerebellar vermis morphology	10682	EBP	ORPHA:401973
HP:0002334	Abnormal cerebellar vermis morphology	10682	EBP	OMIM:300960
HP:0002334	Abnormal cerebellar vermis morphology	10682	EBP	OMIM:302960
HP:0002334	Abnormal cerebellar vermis morphology	56896	DPYSL5	OMIM:619435
HP:0002334	Abnormal cerebellar vermis morphology	3265	HRAS	ORPHA:2612
HP:0002334	Abnormal cerebellar vermis morphology	3845	KRAS	ORPHA:2612
HP:0002334	Abnormal cerebellar vermis morphology	4893	NRAS	ORPHA:2612
HP:0002334	Abnormal cerebellar vermis morphology	4893	NRAS	OMIM:249400
HP:0002334	Abnormal cerebellar vermis morphology	23556	PIGN	ORPHA:2059
HP:0002334	Abnormal cerebellar vermis morphology	7355	SLC35A2	ORPHA:356961
HP:0002334	Abnormal cerebellar vermis morphology	7545	ZIC1	OMIM:616602
HP:0002334	Abnormal cerebellar vermis morphology	7545	ZIC1	OMIM:618736
HP:0002334	Abnormal cerebellar vermis morphology	84942	WDR73	OMIM:251300
HP:0002334	Abnormal cerebellar vermis morphology	2737	GLI3	ORPHA:36
HP:0002334	Abnormal cerebellar vermis morphology	57465	TBC1D24	OMIM:220500
HP:0002334	Abnormal cerebellar vermis morphology	57465	TBC1D24	ORPHA:79500
HP:0002334	Abnormal cerebellar vermis morphology	55112	DYNC2I1	ORPHA:93271
HP:0002334	Abnormal cerebellar vermis morphology	57560	IFT80	ORPHA:93271
HP:0002334	Abnormal cerebellar vermis morphology	57539	WDR35	ORPHA:93271
HP:0002334	Abnormal cerebellar vermis morphology	79659	DYNC2H1	ORPHA:93271
HP:0002334	Abnormal cerebellar vermis morphology	89891	DYNC2I2	ORPHA:93271
HP:0002334	Abnormal cerebellar vermis morphology	1436	CSF1R	OMIM:618476
HP:0002334	Abnormal cerebellar vermis morphology	84162	BLTP1	OMIM:617822
HP:0002334	Abnormal cerebellar vermis morphology	4081	MAB21L1	OMIM:618479
HP:0002334	Abnormal cerebellar vermis morphology	55636	CHD7	ORPHA:138
HP:0002334	Abnormal cerebellar vermis morphology	9723	SEMA3E	ORPHA:138
HP:0002334	Abnormal cerebellar vermis morphology	79068	FTO	OMIM:612938
HP:0002334	Abnormal cerebellar vermis morphology	57492	ARID1B	OMIM:135900
HP:0002334	Abnormal cerebellar vermis morphology	57492	ARID1B	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	3899	AFF3	OMIM:619297
HP:0002334	Abnormal cerebellar vermis morphology	6597	SMARCA4	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6597	SMARCA4	OMIM:614609
HP:0002334	Abnormal cerebellar vermis morphology	6598	SMARCB1	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6598	SMARCB1	OMIM:614608
HP:0002334	Abnormal cerebellar vermis morphology	6659	SOX4	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	8289	ARID1A	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	8289	ARID1A	OMIM:614607
HP:0002334	Abnormal cerebellar vermis morphology	5977	DPF2	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6601	SMARCC2	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6602	SMARCD1	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	196528	ARID2	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6605	SMARCE1	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	6605	SMARCE1	OMIM:616938
HP:0002334	Abnormal cerebellar vermis morphology	6664	SOX11	ORPHA:1465
HP:0002334	Abnormal cerebellar vermis morphology	27315	PGAP2	OMIM:614207
HP:0002334	Abnormal cerebellar vermis morphology	157570	ESCO2	ORPHA:2319
HP:0002334	Abnormal cerebellar vermis morphology	5340	PLG	ORPHA:722
HP:0002334	Abnormal cerebellar vermis morphology	5340	PLG	OMIM:217090
HP:0002334	Abnormal cerebellar vermis morphology	1717	DHCR7	OMIM:270400
HP:0002334	Abnormal cerebellar vermis morphology	84314	TMEM107	ORPHA:564
HP:0002334	Abnormal cerebellar vermis morphology	79770	TXNDC15	ORPHA:564
HP:0002334	Abnormal cerebellar vermis morphology	27031	NPHP3	OMIM:267010
HP:0002334	Abnormal cerebellar vermis morphology	27031	NPHP3	OMIM:208540
HP:0002334	Abnormal cerebellar vermis morphology	27031	NPHP3	ORPHA:3032
HP:0002334	Abnormal cerebellar vermis morphology	171023	ASXL1	ORPHA:97297
HP:0002334	Abnormal cerebellar vermis morphology	171023	ASXL1	OMIM:605039
HP:0002334	Abnormal cerebellar vermis morphology	9184	BUB3	ORPHA:1052
HP:0002334	Abnormal cerebellar vermis morphology	699	BUB1	ORPHA:1052
HP:0002334	Abnormal cerebellar vermis morphology	9702	CEP57	ORPHA:1052
HP:0002334	Abnormal cerebellar vermis morphology	9319	TRIP13	ORPHA:1052
HP:0002334	Abnormal cerebellar vermis morphology	701	BUB1B	ORPHA:1052
HP:0002334	Abnormal cerebellar vermis morphology	701	BUB1B	OMIM:257300
HP:0002334	Abnormal cerebellar vermis morphology	84188	FAR1	ORPHA:438178
HP:0002334	Abnormal cerebellar vermis morphology	84188	FAR1	OMIM:616154
HP:0002334	Abnormal cerebellar vermis morphology	2260	FGFR1	OMIM:613001
HP:0002334	Abnormal cerebellar vermis morphology	2683	B4GALT1	OMIM:607091
HP:0002334	Abnormal cerebellar vermis morphology	2683	B4GALT1	ORPHA:79332
HP:0002334	Abnormal cerebellar vermis morphology	26227	PHGDH	OMIM:256520
HP:0002334	Abnormal cerebellar vermis morphology	4927	NUP88	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	4654	MYOD1	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	4593	MUSK	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	5913	RAPSN	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	6572	SLC18A3	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	285489	DOK7	ORPHA:994
HP:0002334	Abnormal cerebellar vermis morphology	7737	RNF113A	OMIM:300953
HP:0002334	Abnormal cerebellar vermis morphology	998	CDC42	ORPHA:487796
HP:0002334	Abnormal cerebellar vermis morphology	11128	POLR3A	OMIM:264090
HP:0002334	Abnormal cerebellar vermis morphology	4534	MTM1	OMIM:310400
HP:0002334	Abnormal cerebellar vermis morphology	526	ATP6V1B2	ORPHA:79500
HP:0002334	Abnormal cerebellar vermis morphology	54880	BCOR	OMIM:300166
HP:0002334	Abnormal cerebellar vermis morphology	55640	FLVCR2	OMIM:225790
HP:0002334	Abnormal cerebellar vermis morphology	28952	CCDC22	OMIM:300963
HP:0002334	Abnormal cerebellar vermis morphology	28952	CCDC22	ORPHA:7
HP:0002334	Abnormal cerebellar vermis morphology	5500	PPP1CB	OMIM:617506
HP:0002334	Abnormal cerebellar vermis morphology	54676	GTPBP2	OMIM:617988
HP:0002334	Abnormal cerebellar vermis morphology	9897	WASHC5	OMIM:220210
HP:0002334	Abnormal cerebellar vermis morphology	9897	WASHC5	ORPHA:7
HP:0002334	Abnormal cerebellar vermis morphology	23007	PLCH1	OMIM:619895
HP:0002334	Abnormal cerebellar vermis morphology	2121	EVC	OMIM:225500
HP:0002334	Abnormal cerebellar vermis morphology	132884	EVC2	OMIM:225500
HP:0002334	Abnormal cerebellar vermis morphology	523	ATP6V1A	ORPHA:357074
HP:0002334	Abnormal cerebellar vermis morphology	529	ATP6V1E1	ORPHA:357074
HP:0002334	Abnormal cerebellar vermis morphology	3798	KIF5A	OMIM:617235
HP:0002334	Abnormal cerebellar vermis morphology	1028	CDKN1C	OMIM:130650
HP:0002334	Abnormal cerebellar vermis morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002334	Abnormal cerebellar vermis morphology	3481	IGF2	OMIM:130650
HP:0002334	Abnormal cerebellar vermis morphology	3784	KCNQ1	OMIM:130650
HP:0002334	Abnormal cerebellar vermis morphology	10195	ALG3	ORPHA:79321
HP:0002334	Abnormal cerebellar vermis morphology	27183	VPS4A	OMIM:619273
HP:0002334	Abnormal cerebellar vermis morphology	10128	LRPPRC	OMIM:220111
HP:0002334	Abnormal cerebellar vermis morphology	3912	LAMB1	OMIM:615191
HP:0002334	Abnormal cerebellar vermis morphology	54892	NCAPG2	OMIM:618460
HP:0002334	Abnormal cerebellar vermis morphology	60529	ALX4	OMIM:613451
HP:0002334	Abnormal cerebellar vermis morphology	4750	NEK1	OMIM:263520
HP:0002334	Abnormal cerebellar vermis morphology	23241	PACS2	OMIM:618067
HP:0002334	Abnormal cerebellar vermis morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002334	Abnormal cerebellar vermis morphology	26160	IFT172	OMIM:615630
HP:0002334	Abnormal cerebellar vermis morphology	65062	TMEM237	OMIM:614424
HP:0002334	Abnormal cerebellar vermis morphology	65062	TMEM237	ORPHA:220497
HP:0002334	Abnormal cerebellar vermis morphology	65062	TMEM237	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	65062	TMEM237	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	55733	HHAT	OMIM:600092
HP:0002334	Abnormal cerebellar vermis morphology	56623	INPP5E	OMIM:213300
HP:0002334	Abnormal cerebellar vermis morphology	56623	INPP5E	ORPHA:220493
HP:0002334	Abnormal cerebellar vermis morphology	56623	INPP5E	ORPHA:1454
HP:0002334	Abnormal cerebellar vermis morphology	56623	INPP5E	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	8496	PPFIBP1	OMIM:620024
HP:0002334	Abnormal cerebellar vermis morphology	1605	DAG1	ORPHA:370997
HP:0002334	Abnormal cerebellar vermis morphology	1605	DAG1	OMIM:616538
HP:0002334	Abnormal cerebellar vermis morphology	4867	NPHP1	OMIM:609583
HP:0002334	Abnormal cerebellar vermis morphology	4867	NPHP1	ORPHA:220497
HP:0002334	Abnormal cerebellar vermis morphology	64324	NSD1	ORPHA:821
HP:0002334	Abnormal cerebellar vermis morphology	29072	SETD2	ORPHA:821
HP:0002334	Abnormal cerebellar vermis morphology	10297	APC2	ORPHA:821
HP:0002334	Abnormal cerebellar vermis morphology	91147	TMEM67	OMIM:216360
HP:0002334	Abnormal cerebellar vermis morphology	91147	TMEM67	ORPHA:1454
HP:0002334	Abnormal cerebellar vermis morphology	91147	TMEM67	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	91147	TMEM67	OMIM:610688
HP:0002334	Abnormal cerebellar vermis morphology	79848	CSPP1	ORPHA:397715
HP:0002334	Abnormal cerebellar vermis morphology	79848	CSPP1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	9786	KIAA0586	ORPHA:397715
HP:0002334	Abnormal cerebellar vermis morphology	9786	KIAA0586	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	9786	KIAA0586	OMIM:616546
HP:0002334	Abnormal cerebellar vermis morphology	128869	PIGU	OMIM:618590
HP:0002334	Abnormal cerebellar vermis morphology	4983	OPHN1	OMIM:300486
HP:0002334	Abnormal cerebellar vermis morphology	4281	MID1	OMIM:300000
HP:0002334	Abnormal cerebellar vermis morphology	9578	CDC42BPB	OMIM:619841
HP:0002334	Abnormal cerebellar vermis morphology	3020	H3-3A	OMIM:619720
HP:0002334	Abnormal cerebellar vermis morphology	219854	TMEM218	OMIM:619562
HP:0002334	Abnormal cerebellar vermis morphology	219854	TMEM218	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	473	RERE	OMIM:616975
HP:0002334	Abnormal cerebellar vermis morphology	473	RERE	ORPHA:494344
HP:0002334	Abnormal cerebellar vermis morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002334	Abnormal cerebellar vermis morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002334	Abnormal cerebellar vermis morphology	7280	TUBB2A	OMIM:615763
HP:0002334	Abnormal cerebellar vermis morphology	79644	SRD5A3	OMIM:612379
HP:0002334	Abnormal cerebellar vermis morphology	54806	AHI1	ORPHA:220493
HP:0002334	Abnormal cerebellar vermis morphology	54806	AHI1	OMIM:608629
HP:0002334	Abnormal cerebellar vermis morphology	54806	AHI1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	153241	CEP120	ORPHA:220493
HP:0002334	Abnormal cerebellar vermis morphology	153241	CEP120	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	54903	MKS1	ORPHA:220493
HP:0002334	Abnormal cerebellar vermis morphology	54903	MKS1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	95681	CEP41	ORPHA:220493
HP:0002334	Abnormal cerebellar vermis morphology	95681	CEP41	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	29968	PSAT1	OMIM:610992
HP:0002334	Abnormal cerebellar vermis morphology	29968	PSAT1	ORPHA:284417
HP:0002334	Abnormal cerebellar vermis morphology	10501	SEMA6B	OMIM:618876
HP:0002334	Abnormal cerebellar vermis morphology	80055	PGAP1	OMIM:615802
HP:0002334	Abnormal cerebellar vermis morphology	57082	KNL1	OMIM:604321
HP:0002334	Abnormal cerebellar vermis morphology	7846	TUBA1A	OMIM:611603
HP:0002334	Abnormal cerebellar vermis morphology	7846	TUBA1A	ORPHA:467166
HP:0002334	Abnormal cerebellar vermis morphology	7846	TUBA1A	ORPHA:171680
HP:0002334	Abnormal cerebellar vermis morphology	9382	COG1	OMIM:611209
HP:0002334	Abnormal cerebellar vermis morphology	9382	COG1	ORPHA:263508
HP:0002334	Abnormal cerebellar vermis morphology	29925	GMPPB	ORPHA:370968
HP:0002334	Abnormal cerebellar vermis morphology	79147	FKRP	ORPHA:370968
HP:0002334	Abnormal cerebellar vermis morphology	29954	POMT2	ORPHA:370968
HP:0002334	Abnormal cerebellar vermis morphology	29954	POMT2	OMIM:613156
HP:0002334	Abnormal cerebellar vermis morphology	9215	LARGE1	ORPHA:370968
HP:0002334	Abnormal cerebellar vermis morphology	10585	POMT1	ORPHA:370968
HP:0002334	Abnormal cerebellar vermis morphology	10585	POMT1	OMIM:613155
HP:0002334	Abnormal cerebellar vermis morphology	55777	MBD5	OMIM:156200
HP:0002334	Abnormal cerebellar vermis morphology	347733	TUBB2B	ORPHA:467166
HP:0002334	Abnormal cerebellar vermis morphology	347733	TUBB2B	OMIM:610031
HP:0002334	Abnormal cerebellar vermis morphology	10381	TUBB3	ORPHA:467166
HP:0002334	Abnormal cerebellar vermis morphology	10381	TUBB3	ORPHA:300570
HP:0002334	Abnormal cerebellar vermis morphology	22930	RAB3GAP1	OMIM:600118
HP:0002334	Abnormal cerebellar vermis morphology	22930	RAB3GAP1	ORPHA:2510
HP:0002334	Abnormal cerebellar vermis morphology	203068	TUBB	OMIM:615771
HP:0002334	Abnormal cerebellar vermis morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002334	Abnormal cerebellar vermis morphology	1778	DYNC1H1	OMIM:614563
HP:0002334	Abnormal cerebellar vermis morphology	23090	ZNF423	OMIM:614844
HP:0002334	Abnormal cerebellar vermis morphology	23090	ZNF423	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	1801	DPH1	OMIM:616901
HP:0002334	Abnormal cerebellar vermis morphology	1801	DPH1	ORPHA:459061
HP:0002334	Abnormal cerebellar vermis morphology	80746	TSEN2	OMIM:612389
HP:0002334	Abnormal cerebellar vermis morphology	80746	TSEN2	ORPHA:2524
HP:0002334	Abnormal cerebellar vermis morphology	22897	CEP164	OMIM:614845
HP:0002334	Abnormal cerebellar vermis morphology	54974	THG1L	OMIM:618800
HP:0002334	Abnormal cerebellar vermis morphology	93627	TBCK	OMIM:616900
HP:0002334	Abnormal cerebellar vermis morphology	1063	CENPF	OMIM:243605
HP:0002334	Abnormal cerebellar vermis morphology	79583	TMEM231	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	79583	TMEM231	ORPHA:2752
HP:0002334	Abnormal cerebellar vermis morphology	51524	TMEM138	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	80184	CEP290	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	51259	TMEM216	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	51259	TMEM216	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	57545	CC2D2A	ORPHA:2318
HP:0002334	Abnormal cerebellar vermis morphology	57545	CC2D2A	ORPHA:1454
HP:0002334	Abnormal cerebellar vermis morphology	57545	CC2D2A	OMIM:619111
HP:0002334	Abnormal cerebellar vermis morphology	23116	TOGARAM1	OMIM:619185
HP:0002334	Abnormal cerebellar vermis morphology	23116	TOGARAM1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	7703	PCGF2	OMIM:618371
HP:0002334	Abnormal cerebellar vermis morphology	80856	LNPK	OMIM:618090
HP:0002334	Abnormal cerebellar vermis morphology	23258	DENND5A	OMIM:617281
HP:0002334	Abnormal cerebellar vermis morphology	26278	SACS	ORPHA:98
HP:0002334	Abnormal cerebellar vermis morphology	9839	ZEB2	ORPHA:261552
HP:0002334	Abnormal cerebellar vermis morphology	9839	ZEB2	ORPHA:261537
HP:0002334	Abnormal cerebellar vermis morphology	79600	TCTN1	OMIM:614173
HP:0002334	Abnormal cerebellar vermis morphology	79600	TCTN1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	79042	TSEN34	OMIM:612390
HP:0002334	Abnormal cerebellar vermis morphology	79042	TSEN34	ORPHA:2524
HP:0002334	Abnormal cerebellar vermis morphology	127833	SYT2	OMIM:619461
HP:0002334	Abnormal cerebellar vermis morphology	1822	ATN1	OMIM:618494
HP:0002334	Abnormal cerebellar vermis morphology	8550	MAPKAPK5	OMIM:619869
HP:0002334	Abnormal cerebellar vermis morphology	545	ATR	OMIM:210600
HP:0002334	Abnormal cerebellar vermis morphology	10352	WARS2	ORPHA:572798
HP:0002334	Abnormal cerebellar vermis morphology	26005	C2CD3	OMIM:615948
HP:0002334	Abnormal cerebellar vermis morphology	492	ATP2B3	ORPHA:314978
HP:0002334	Abnormal cerebellar vermis morphology	60386	SLC25A19	ORPHA:99742
HP:0002334	Abnormal cerebellar vermis morphology	60386	SLC25A19	OMIM:607196
HP:0002334	Abnormal cerebellar vermis morphology	5373	PMM2	OMIM:212065
HP:0002334	Abnormal cerebellar vermis morphology	5373	PMM2	ORPHA:79318
HP:0002334	Abnormal cerebellar vermis morphology	2296	FOXC1	OMIM:602482
HP:0002334	Abnormal cerebellar vermis morphology	2296	FOXC1	OMIM:601631
HP:0002334	Abnormal cerebellar vermis morphology	8241	RBM10	OMIM:311900
HP:0002334	Abnormal cerebellar vermis morphology	59336	PRDM13	OMIM:619909
HP:0002334	Abnormal cerebellar vermis morphology	51684	SUFU	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	65250	CPLANE1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	65250	CPLANE1	OMIM:277170
HP:0002334	Abnormal cerebellar vermis morphology	65250	CPLANE1	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	200894	ARL13B	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	9731	CEP104	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	219844	HYLS1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	23247	KATNIP	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	23247	KATNIP	OMIM:616784
HP:0002334	Abnormal cerebellar vermis morphology	79867	TCTN2	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	80776	B9D2	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	10464	PIBF1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	80210	ARMC9	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	25776	CBY1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	27077	B9D1	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	403	ARL3	ORPHA:475
HP:0002334	Abnormal cerebellar vermis morphology	403	ARL3	OMIM:618161
HP:0002334	Abnormal cerebellar vermis morphology	10804	GJB6	ORPHA:477
HP:0002334	Abnormal cerebellar vermis morphology	2706	GJB2	ORPHA:477
HP:0002334	Abnormal cerebellar vermis morphology	2615	LRRC32	OMIM:619074
HP:0002334	Abnormal cerebellar vermis morphology	4352	MPL	OMIM:604498
HP:0002334	Abnormal cerebellar vermis morphology	11340	EXOSC8	OMIM:616081
HP:0002334	Abnormal cerebellar vermis morphology	9851	KIAA0753	OMIM:619476
HP:0002334	Abnormal cerebellar vermis morphology	9851	KIAA0753	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	9851	KIAA0753	OMIM:617127
HP:0002334	Abnormal cerebellar vermis morphology	253738	EBF3	OMIM:617330
HP:0002334	Abnormal cerebellar vermis morphology	57187	THOC2	OMIM:300957
HP:0002334	Abnormal cerebellar vermis morphology	2892	GRIA3	ORPHA:364028
HP:0002334	Abnormal cerebellar vermis morphology	56006	SMG9	OMIM:616920
HP:0002334	Abnormal cerebellar vermis morphology	163786	SASS6	OMIM:616402
HP:0002334	Abnormal cerebellar vermis morphology	55280	CWF19L1	OMIM:616127
HP:0002334	Abnormal cerebellar vermis morphology	55280	CWF19L1	ORPHA:453521
HP:0002334	Abnormal cerebellar vermis morphology	29957	SLC25A24	OMIM:612289
HP:0002334	Abnormal cerebellar vermis morphology	4361	MRE11	ORPHA:251347
HP:0002334	Abnormal cerebellar vermis morphology	8239	USP9X	ORPHA:480880
HP:0002334	Abnormal cerebellar vermis morphology	51692	CPSF3	OMIM:619876
HP:0002334	Abnormal cerebellar vermis morphology	9289	ADGRG1	ORPHA:98889
HP:0002334	Abnormal cerebellar vermis morphology	9289	ADGRG1	ORPHA:101070
HP:0002334	Abnormal cerebellar vermis morphology	5297	PI4KA	ORPHA:98889
HP:0002334	Abnormal cerebellar vermis morphology	5297	PI4KA	OMIM:616531
HP:0002334	Abnormal cerebellar vermis morphology	27286	SRPX2	ORPHA:98889
HP:0002334	Abnormal cerebellar vermis morphology	5728	PTEN	ORPHA:101070
HP:0002334	Abnormal cerebellar vermis morphology	10236	HNRNPR	OMIM:620073
HP:0002334	Abnormal cerebellar vermis morphology	51611	DPH5	OMIM:620070
HP:0002334	Abnormal cerebellar vermis morphology	6872	TAF1	OMIM:300966
HP:0002334	Abnormal cerebellar vermis morphology	22983	MAST1	OMIM:618273
HP:0002334	Abnormal cerebellar vermis morphology	2232	FDXR	ORPHA:543470
HP:0002334	Abnormal cerebellar vermis morphology	90416	CCDC32	OMIM:619123
HP:0002334	Abnormal cerebellar vermis morphology	283989	TSEN54	ORPHA:2524
HP:0002334	Abnormal cerebellar vermis morphology	116461	TSEN15	ORPHA:2524
HP:0002334	Abnormal cerebellar vermis morphology	51091	SEPSECS	ORPHA:2524
HP:0002334	Abnormal cerebellar vermis morphology	6121	RPE65	OMIM:204100
HP:0002334	Abnormal cerebellar vermis morphology	284217	LAMA1	OMIM:615960
HP:0002334	Abnormal cerebellar vermis morphology	5591	PRKDC	OMIM:615966
HP:0002334	Abnormal cerebellar vermis morphology	3708	ITPR1	OMIM:117360
HP:0002334	Abnormal cerebellar vermis morphology	57038	RARS2	OMIM:611523
HP:0002334	Abnormal cerebellar vermis morphology	54499	TMCO1	ORPHA:1394
HP:0002334	Abnormal cerebellar vermis morphology	79971	WLS	OMIM:619648
HP:0002334	Abnormal cerebellar vermis morphology	79633	FAT4	ORPHA:314679
HP:0002334	Abnormal cerebellar vermis morphology	8642	DCHS1	ORPHA:314679
HP:0002334	Abnormal cerebellar vermis morphology	55691	FRMD4A	OMIM:616819
HP:0002334	Abnormal cerebellar vermis morphology	55691	FRMD4A	ORPHA:466688
HP:0002334	Abnormal cerebellar vermis morphology	3187	HNRNPH1	OMIM:620083
HP:0002334	Abnormal cerebellar vermis morphology	57724	EPG5	OMIM:242840
HP:0002334	Abnormal cerebellar vermis morphology	57020	VPS35L	OMIM:619135
HP:0002334	Abnormal cerebellar vermis morphology	4123	MAN2C1	OMIM:619775
HP:0002334	Abnormal cerebellar vermis morphology	5879	RAC1	OMIM:617751
HP:0002334	Abnormal cerebellar vermis morphology	738	VPS51	OMIM:618606
HP:0002334	Abnormal cerebellar vermis morphology	8481	OFD1	OMIM:300804
HP:0002334	Abnormal cerebellar vermis morphology	8481	OFD1	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	23499	MACF1	OMIM:618325
HP:0002334	Abnormal cerebellar vermis morphology	2806	GOT2	OMIM:618721
HP:0002334	Abnormal cerebellar vermis morphology	3954	LETM1	OMIM:620089
HP:0002334	Abnormal cerebellar vermis morphology	84081	NSRP1	OMIM:620001
HP:0002334	Abnormal cerebellar vermis morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002334	Abnormal cerebellar vermis morphology	9939	RBM8A	OMIM:274000
HP:0002334	Abnormal cerebellar vermis morphology	25782	RAB3GAP2	ORPHA:2510
HP:0002334	Abnormal cerebellar vermis morphology	22931	RAB18	ORPHA:2510
HP:0002334	Abnormal cerebellar vermis morphology	128637	TBC1D20	ORPHA:2510
HP:0002334	Abnormal cerebellar vermis morphology	10079	ATP9A	OMIM:620242
HP:0002334	Abnormal cerebellar vermis morphology	1376	CPT2	ORPHA:228308
HP:0002334	Abnormal cerebellar vermis morphology	10210	TOPORS	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	26123	TCTN3	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	5147	PDE6D	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	317662	FAM149B1	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	374654	KIF7	ORPHA:2754
HP:0002334	Abnormal cerebellar vermis morphology	9896	FIG4	OMIM:216340
HP:0002334	Abnormal cerebellar vermis morphology	23299	BICD2	OMIM:618291
HP:0002334	Abnormal cerebellar vermis morphology	129285	PPP1R21	OMIM:619383
HP:0002334	Abnormal cerebellar vermis morphology	79023	NUP37	OMIM:618179
HP:0002334	Abnormal cerebellar vermis morphology	8295	TRRAP	OMIM:618454
HP:0002334	Abnormal cerebellar vermis morphology	9181	ARHGEF2	OMIM:617523
HP:0002334	Abnormal cerebellar vermis morphology	2719	GPC3	OMIM:312870
HP:0002334	Abnormal cerebellar vermis morphology	2239	GPC4	OMIM:312870
HP:0002334	Abnormal cerebellar vermis morphology	55770	EXOC2	OMIM:619306
HP:0002334	Abnormal cerebellar vermis morphology	9230	RAB11B	OMIM:617807
HP:0002334	Abnormal cerebellar vermis morphology	8905	AP1S2	OMIM:304340
HP:0002334	Abnormal cerebellar vermis morphology	80816	ASXL3	ORPHA:352577
HP:0002334	Abnormal cerebellar vermis morphology	4644	MYO5A	ORPHA:33445
HP:0002334	Abnormal cerebellar vermis morphology	4953	ODC1	ORPHA:544488
HP:0002334	Abnormal cerebellar vermis morphology	63895	PIEZO2	ORPHA:2461
HP:0002334	Abnormal cerebellar vermis morphology	64374	SIL1	ORPHA:559
HP:0002334	Abnormal cerebellar vermis morphology	51763	INPP5K	ORPHA:559
HP:0002334	Abnormal cerebellar vermis morphology	84892	POMGNT2	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	148789	B3GALNT2	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	1282	COL4A1	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	729920	CRPPA	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	10329	RXYLT1	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	11041	B4GAT1	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	84197	POMK	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	2218	FKTN	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	55624	POMGNT1	ORPHA:899
HP:0002334	Abnormal cerebellar vermis morphology	4208	MEF2C	ORPHA:228384
HP:0002334	Abnormal cerebellar vermis morphology	3839	KPNA3	OMIM:620106
HP:0002334	Abnormal cerebellar vermis morphology	256297	PTF1A	OMIM:609069
HP:0002334	Abnormal cerebellar vermis morphology	7020	TFAP2A	OMIM:113620
HP:0002334	Abnormal cerebellar vermis morphology	9928	KIF14	OMIM:616258
HP:0002334	Abnormal cerebellar vermis morphology	4598	MVK	OMIM:610377
HP:0002334	Abnormal cerebellar vermis morphology	55690	PACS1	ORPHA:329224
HP:0002334	Abnormal cerebellar vermis morphology	95	ACY1	ORPHA:137754
HP:0002334	Abnormal cerebellar vermis morphology	3769	KCNJ13	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	343035	RD3	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	145226	RDH12	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	1406	CRX	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	64802	NMNAT1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	57096	RPGRIP1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	10383	TUBB4B	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	9742	IFT140	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	85015	USP45	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	23418	CRB1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	5130	PCYT1A	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	9657	IQCB1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	392255	GDF6	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	23746	AIPL1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	3000	GUCY2D	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	9227	LRAT	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	55812	SPATA7	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	7287	TULP1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	167691	LCA5	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	3614	IMPDH1	ORPHA:65
HP:0002334	Abnormal cerebellar vermis morphology	339453	TMEM240	ORPHA:98773
HP:0002334	Abnormal cerebellar vermis morphology	8450	CUL4B	OMIM:300354
HP:0002334	Abnormal cerebellar vermis morphology	55703	POLR3B	OMIM:614381
HP:0002334	Abnormal cerebellar vermis morphology	92935	MARS2	OMIM:611390
HP:0002334	Abnormal cerebellar vermis morphology	375	ARF1	OMIM:618185
HP:0002334	Abnormal cerebellar vermis morphology	94005	PIGS	OMIM:618143
HP:0002334	Abnormal cerebellar vermis morphology	2895	GRID2	OMIM:616204
HP:0002334	Abnormal cerebellar vermis morphology	2895	GRID2	ORPHA:363432
HP:0002334	Abnormal cerebellar vermis morphology	64116	SLC39A8	OMIM:616721
HP:0002334	Abnormal cerebellar vermis morphology	9698	PUM1	OMIM:617931
HP:0002334	Abnormal cerebellar vermis morphology	4311	MME	OMIM:617018
HP:0002334	Abnormal cerebellar vermis morphology	4311	MME	ORPHA:497764
HP:0002334	Abnormal cerebellar vermis morphology	23533	PIK3R5	ORPHA:64753
HP:0002334	Abnormal cerebellar vermis morphology	23064	SETX	ORPHA:64753
HP:0002334	Abnormal cerebellar vermis morphology	5828	PEX2	OMIM:614866
HP:0002334	Abnormal cerebellar vermis morphology	10785	WDR4	OMIM:618347
HP:0002334	Abnormal cerebellar vermis morphology	9254	CACNA2D2	OMIM:618501
HP:0002334	Abnormal cerebellar vermis morphology	255928	SYT14	OMIM:614229
HP:0002334	Abnormal cerebellar vermis morphology	55775	TDP1	ORPHA:94124
HP:0002334	Abnormal cerebellar vermis morphology	60481	ELOVL5	OMIM:615957
HP:0002334	Abnormal cerebellar vermis morphology	5582	PRKCG	ORPHA:98763
HP:0002334	Abnormal cerebellar vermis morphology	773	CACNA1A	OMIM:108500
HP:0002334	Abnormal cerebellar vermis morphology	773	CACNA1A	ORPHA:97
HP:0002334	Abnormal cerebellar vermis morphology	26047	CNTNAP2	ORPHA:163681
HP:0002334	Abnormal cerebellar vermis morphology	724066	ATXN8	ORPHA:98760
HP:0002334	Abnormal cerebellar vermis morphology	6315	ATXN8OS	ORPHA:98760
HP:0002334	Abnormal cerebellar vermis morphology	6548	SLC9A1	OMIM:616291
HP:0002334	Abnormal cerebellar vermis morphology	7222	TRPC3	OMIM:616410
HP:0002334	Abnormal cerebellar vermis morphology	7222	TRPC3	ORPHA:458798
HP:0002334	Abnormal cerebellar vermis morphology	5859	QARS1	OMIM:615760
HP:0002334	Abnormal cerebellar vermis morphology	53335	BCL11A	OMIM:617101
HP:0002334	Abnormal cerebellar vermis morphology	1742	DLG4	OMIM:618793
HP:0002334	Abnormal cerebellar vermis morphology	4010	LMX1B	ORPHA:495818
HP:0002334	Abnormal cerebellar vermis morphology	6812	STXBP1	ORPHA:495818
HP:0002334	Abnormal cerebellar vermis morphology	9409	PEX16	OMIM:614877
HP:0002334	Abnormal cerebellar vermis morphology	11261	CHP1	OMIM:618438
HP:0002334	Abnormal cerebellar vermis morphology	4884	NPTX1	OMIM:620158
HP:0002334	Abnormal cerebellar vermis morphology	5354	PLP1	OMIM:312080
HP:0002334	Abnormal cerebellar vermis morphology	1600	DAB1	ORPHA:363710
HP:0002334	Abnormal cerebellar vermis morphology	3064	HTT	ORPHA:248111
HP:0002334	Abnormal cerebellar vermis morphology	3064	HTT	OMIM:617435
HP:0002334	Abnormal cerebellar vermis morphology	116228	COX20	OMIM:619054
HP:0002334	Abnormal cerebellar vermis morphology	7518	XRCC4	OMIM:616541
HP:0002334	Abnormal cerebellar vermis morphology	23203	PMPCA	OMIM:213200
HP:0002334	Abnormal cerebellar vermis morphology	23203	PMPCA	ORPHA:1170
HP:0002334	Abnormal cerebellar vermis morphology	57410	SCYL1	ORPHA:466794
HP:0002334	Abnormal cerebellar vermis morphology	57410	SCYL1	OMIM:616719
HP:0002334	Abnormal cerebellar vermis morphology	54936	ADPRS	OMIM:618170
HP:0002334	Abnormal cerebellar vermis morphology	27072	VPS41	OMIM:619389
HP:0002334	Abnormal cerebellar vermis morphology	79152	FA2H	ORPHA:329308
HP:0002334	Abnormal cerebellar vermis morphology	547	KIF1A	OMIM:614255
HP:0002334	Abnormal cerebellar vermis morphology	5981	RFC1	OMIM:614575
HP:0002334	Abnormal cerebellar vermis morphology	2705	GJB1	ORPHA:1175
HP:0002334	Abnormal cerebellar vermis morphology	4976	OPA1	OMIM:210000
HP:0002334	Abnormal cerebellar vermis morphology	267010	RNU12	ORPHA:512260
HP:0002334	Abnormal cerebellar vermis morphology	10528	NOP56	ORPHA:276198
HP:0002334	Abnormal cerebellar vermis morphology	8913	CACNA1G	OMIM:616795
HP:0002334	Abnormal cerebellar vermis morphology	6310	ATXN1	ORPHA:98755
HP:0002334	Abnormal cerebellar vermis morphology	124997	WDR81	OMIM:610185
HP:0002334	Abnormal cerebellar vermis morphology	3897	L1CAM	OMIM:304100
HP:0002334	Abnormal cerebellar vermis morphology	2972	BRF1	ORPHA:444072
HP:0002334	Abnormal cerebellar vermis morphology	652	BMP4	OMIM:607932
HP:0002334	Abnormal cerebellar vermis morphology	652	BMP4	ORPHA:139471
HP:0002334	Abnormal cerebellar vermis morphology	83696	TRAPPC9	OMIM:613192
HP:0002334	Abnormal cerebellar vermis morphology	26173	INTS1	OMIM:618571
HP:0002334	Abnormal cerebellar vermis morphology	4190	MDH1	OMIM:618959
HP:0002334	Abnormal cerebellar vermis morphology	7436	VLDLR	OMIM:224050
HP:0002334	Abnormal cerebellar vermis morphology	50628	GEMIN4	OMIM:617913
HP:0002334	Abnormal cerebellar vermis morphology	2911	GRM1	OMIM:614831
HP:0002335	Agenesis of cerebellar vermis	4208	MEF2C	ORPHA:228384
HP:0002335	Agenesis of cerebellar vermis	60529	ALX4	OMIM:613451
HP:0002335	Agenesis of cerebellar vermis	60529	ALX4	ORPHA:228390
HP:0002335	Agenesis of cerebellar vermis	79147	FKRP	OMIM:613153
HP:0002335	Agenesis of cerebellar vermis	100151683	RNU4ATAC	OMIM:210710
HP:0002335	Agenesis of cerebellar vermis	80184	CEP290	OMIM:611134
HP:0002335	Agenesis of cerebellar vermis	80184	CEP290	OMIM:610188
HP:0002335	Agenesis of cerebellar vermis	3839	KPNA3	OMIM:620106
HP:0002335	Agenesis of cerebellar vermis	65062	TMEM237	OMIM:614424
HP:0002335	Agenesis of cerebellar vermis	51259	TMEM216	OMIM:608091
HP:0002335	Agenesis of cerebellar vermis	56623	INPP5E	OMIM:213300
HP:0002335	Agenesis of cerebellar vermis	256297	PTF1A	OMIM:609069
HP:0002335	Agenesis of cerebellar vermis	9839	ZEB2	ORPHA:261537
HP:0002335	Agenesis of cerebellar vermis	9839	ZEB2	ORPHA:261552
HP:0002335	Agenesis of cerebellar vermis	7020	TFAP2A	OMIM:113620
HP:0002335	Agenesis of cerebellar vermis	11041	B4GAT1	OMIM:615287
HP:0002335	Agenesis of cerebellar vermis	5147	PDE6D	OMIM:615665
HP:0002335	Agenesis of cerebellar vermis	9928	KIF14	OMIM:616258
HP:0002335	Agenesis of cerebellar vermis	4598	MVK	OMIM:610377
HP:0002335	Agenesis of cerebellar vermis	26123	TCTN3	OMIM:614815
HP:0002339	Abnormal caudate nucleus morphology	1641	DCX	ORPHA:2148
HP:0002339	Abnormal caudate nucleus morphology	2639	GCDH	ORPHA:25
HP:0002339	Abnormal caudate nucleus morphology	80347	COASY	ORPHA:397725
HP:0002339	Abnormal caudate nucleus morphology	347733	TUBB2B	ORPHA:300573
HP:0002339	Abnormal caudate nucleus morphology	23400	ATP13A2	ORPHA:314632
HP:0002339	Abnormal caudate nucleus morphology	25915	NDUFAF3	ORPHA:70474
HP:0002339	Abnormal caudate nucleus morphology	4714	NDUFB8	ORPHA:70474
HP:0002339	Abnormal caudate nucleus morphology	4720	NDUFS2	ORPHA:70474
HP:0002339	Abnormal caudate nucleus morphology	9997	SCO2	ORPHA:70474
HP:0002339	Abnormal caudate nucleus morphology	6834	SURF1	ORPHA:70474
HP:0002339	Abnormal caudate nucleus morphology	54209	TREM2	OMIM:618193
HP:0002339	Abnormal caudate nucleus morphology	1678	TIMM8A	ORPHA:52368
HP:0002339	Abnormal caudate nucleus morphology	3064	HTT	ORPHA:399
HP:0002339	Abnormal caudate nucleus morphology	3064	HTT	OMIM:617435
HP:0002339	Abnormal caudate nucleus morphology	6515	SLC2A3	ORPHA:399
HP:0002339	Abnormal caudate nucleus morphology	26580	BSCL2	ORPHA:363400
HP:0002339	Abnormal caudate nucleus morphology	2512	FTL	ORPHA:157846
HP:0002339	Abnormal caudate nucleus morphology	7305	TYROBP	OMIM:221770
HP:0002339	Abnormal caudate nucleus morphology	23230	VPS13A	OMIM:200150
HP:0002339	Abnormal caudate nucleus morphology	23230	VPS13A	ORPHA:2388
HP:0002339	Abnormal caudate nucleus morphology	4750	NEK1	OMIM:617892
HP:0002339	Abnormal caudate nucleus morphology	93986	FOXP2	ORPHA:209908
HP:0002339	Abnormal caudate nucleus morphology	79133	NDUFAF5	OMIM:618238
HP:0002339	Abnormal caudate nucleus morphology	4983	OPHN1	ORPHA:137831
HP:0002339	Abnormal caudate nucleus morphology	57338	JPH3	ORPHA:98934
HP:0002339	Abnormal caudate nucleus morphology	4508	MT-ATP6	ORPHA:225154
HP:0002339	Abnormal caudate nucleus morphology	23636	NUP62	ORPHA:225154
HP:0002339	Abnormal caudate nucleus morphology	103	ADAR	ORPHA:225154
HP:0002339	Abnormal caudate nucleus morphology	10381	TUBB3	OMIM:614039
HP:0012551	Absent neutrophil specific granules	1053	CEBPE	OMIM:245480
HP:0012551	Absent neutrophil specific granules	6603	SMARCD2	OMIM:617475
HP:0012554	Absent thumbnail	526	ATP6V1B2	OMIM:124480
HP:0012554	Absent thumbnail	526	ATP6V1B2	ORPHA:79499
HP:0012554	Absent thumbnail	6792	CDKL5	ORPHA:1934
HP:0012554	Absent thumbnail	3736	KCNA1	ORPHA:1934
HP:0012554	Absent thumbnail	9091	PIGQ	ORPHA:1934
HP:0012554	Absent thumbnail	2775	GNAO1	ORPHA:1934
HP:0012554	Absent thumbnail	81603	TRIM8	ORPHA:1934
HP:0012554	Absent thumbnail	2902	GRIN1	ORPHA:1934
HP:0012554	Absent thumbnail	79751	SLC25A22	ORPHA:1934
HP:0012554	Absent thumbnail	150094	SIK1	ORPHA:1934
HP:0012554	Absent thumbnail	8573	CASK	ORPHA:1934
HP:0012554	Absent thumbnail	23312	DMXL2	ORPHA:1934
HP:0012554	Absent thumbnail	2917	GRM7	ORPHA:1934
HP:0012554	Absent thumbnail	170302	ARX	ORPHA:1934
HP:0012554	Absent thumbnail	11284	PNKP	ORPHA:1934
HP:0012554	Absent thumbnail	6326	SCN2A	ORPHA:1934
HP:0012554	Absent thumbnail	51227	PIGP	ORPHA:1934
HP:0012554	Absent thumbnail	6324	SCN1B	ORPHA:1934
HP:0012554	Absent thumbnail	4761	NEUROD2	ORPHA:1934
HP:0012554	Absent thumbnail	3756	KCNH1	OMIM:611816
HP:0012555	Absent nail of hallux	3756	KCNH1	ORPHA:420561
HP:0012555	Absent nail of hallux	3756	KCNH1	OMIM:611816
HP:0012557	EEG with centrotemporal focal spike waves	23096	IQSEC2	ORPHA:217377
HP:0012557	EEG with centrotemporal focal spike waves	23732	FRRS1L	ORPHA:725
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	ORPHA:725
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	ORPHA:1945
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	OMIM:245570
HP:0012557	EEG with centrotemporal focal spike waves	27286	SRPX2	ORPHA:1945
HP:0012557	EEG with centrotemporal focal spike waves	2566	GABRG2	ORPHA:1945
HP:0012558	Abnormal T3/T4 ratio	7038	TG	OMIM:274700
HP:0012558	Abnormal T3/T4 ratio	7067	THRA	OMIM:614450
HP:0012559	Increased T3/T4 ratio	7038	TG	OMIM:274700
HP:0012559	Increased T3/T4 ratio	7067	THRA	OMIM:614450
HP:0012553	Hypoplastic thumbnail	5281	PIGF	OMIM:619356
HP:0012553	Hypoplastic thumbnail	3756	KCNH1	ORPHA:420561
HP:0012553	Hypoplastic thumbnail	3756	KCNH1	OMIM:611816
HP:0032989	Delayed ability to roll over	4702	NDUFA8	OMIM:619272
HP:0032989	Delayed ability to roll over	4204	MECP2	OMIM:300260
HP:0032989	Delayed ability to roll over	57020	VPS35L	OMIM:619135
HP:0032989	Delayed ability to roll over	64432	MRPS25	OMIM:619025
HP:0032989	Delayed ability to roll over	90522	YIF1B	OMIM:619125
HP:0032989	Delayed ability to roll over	129685	TAF8	OMIM:619972
HP:0032989	Delayed ability to roll over	6651	SON	OMIM:617140
HP:0032989	Delayed ability to roll over	10659	CELF2	OMIM:619561
HP:0032989	Delayed ability to roll over	111	ADCY5	OMIM:619651
HP:0032989	Delayed ability to roll over	535	ATP6V0A1	OMIM:619970
HP:0032989	Delayed ability to roll over	80055	PGAP1	OMIM:615802
HP:0032989	Delayed ability to roll over	8604	SLC25A12	OMIM:612949
HP:0032984	Abnormal alveolar macrophage morphology	1314	COPA	OMIM:616414
HP:0032987	Elevated bronchoalveolar lavage fluid eosinophil proportion	653509	SFTPA1	OMIM:619611
HP:0032988	Persistent head lag	4359	MPZ	OMIM:618184
HP:0032988	Persistent head lag	4204	MECP2	OMIM:300055
HP:0032988	Persistent head lag	57128	LYRM4	OMIM:615595
HP:0032988	Persistent head lag	1020	CDK5	OMIM:616342
HP:0032988	Persistent head lag	55180	LINS1	OMIM:614340
HP:0032988	Persistent head lag	6711	SPTBN1	OMIM:619475
HP:0032988	Persistent head lag	125988	MICOS13	OMIM:618329
HP:0032988	Persistent head lag	816	CAMK2B	OMIM:617799
HP:0032988	Persistent head lag	51126	NAA20	OMIM:619717
HP:0032988	Persistent head lag	92609	TIMM50	OMIM:617698
HP:0032988	Persistent head lag	50628	GEMIN4	OMIM:617913
HP:0032988	Persistent head lag	7360	UGP2	OMIM:618744
HP:0032988	Persistent head lag	2019	EN1	OMIM:619218
HP:0032988	Persistent head lag	10056	FARSB	OMIM:613658
HP:0032988	Persistent head lag	84081	NSRP1	OMIM:620001
HP:0032988	Persistent head lag	3913	LAMB2	OMIM:609049
HP:0032988	Persistent head lag	8604	SLC25A12	OMIM:612949
HP:0032988	Persistent head lag	8802	SUCLG1	OMIM:245400
HP:0032988	Persistent head lag	1737	DLAT	OMIM:245348
HP:0032988	Persistent head lag	9742	IFT140	OMIM:266920
HP:0032988	Persistent head lag	4841	NONO	OMIM:300967
HP:0032988	Persistent head lag	7317	UBA1	OMIM:301830
HP:0032988	Persistent head lag	23327	NEDD4L	OMIM:617201
HP:0032988	Persistent head lag	1352	COX10	OMIM:619046
HP:0032988	Persistent head lag	22907	DHX30	OMIM:617804
HP:0032988	Persistent head lag	4632	MYL1	OMIM:618414
HP:0032988	Persistent head lag	871	SERPINH1	OMIM:613848
HP:0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0002340	Caudate atrophy	54209	TREM2	OMIM:618193
HP:0002340	Caudate atrophy	1678	TIMM8A	ORPHA:52368
HP:0002340	Caudate atrophy	3064	HTT	ORPHA:399
HP:0002340	Caudate atrophy	3064	HTT	OMIM:617435
HP:0002340	Caudate atrophy	6515	SLC2A3	ORPHA:399
HP:0002340	Caudate atrophy	26580	BSCL2	ORPHA:363400
HP:0002340	Caudate atrophy	2512	FTL	ORPHA:157846
HP:0002340	Caudate atrophy	7305	TYROBP	OMIM:221770
HP:0002340	Caudate atrophy	23230	VPS13A	OMIM:200150
HP:0002340	Caudate atrophy	23230	VPS13A	ORPHA:2388
HP:0002340	Caudate atrophy	4750	NEK1	OMIM:617892
HP:0002340	Caudate atrophy	93986	FOXP2	ORPHA:209908
HP:0002340	Caudate atrophy	79133	NDUFAF5	OMIM:618238
HP:0002340	Caudate atrophy	4983	OPHN1	ORPHA:137831
HP:0002340	Caudate atrophy	57338	JPH3	ORPHA:98934
HP:0002341	Cervical cord compression	1311	COMP	OMIM:177170
HP:0002341	Cervical cord compression	2137	EXTL3	ORPHA:508533
HP:0002341	Cervical cord compression	1387	CREBBP	ORPHA:353277
HP:0002341	Cervical cord compression	1387	CREBBP	ORPHA:353281
HP:0002341	Cervical cord compression	6023	RMRP	OMIM:607095
HP:0002341	Cervical cord compression	4784	NFIX	OMIM:602535
HP:0002341	Cervical cord compression	2033	EP300	ORPHA:353284
HP:0002341	Cervical cord compression	3425	IDUA	OMIM:607016
HP:0002341	Cervical cord compression	3423	IDS	OMIM:309900
HP:0002341	Cervical cord compression	415	ARSL	ORPHA:79345
HP:0002342	Intellectual disability, moderate	5138	PDE2A	OMIM:619150
HP:0002342	Intellectual disability, moderate	7528	YY1	ORPHA:506358
HP:0002342	Intellectual disability, moderate	11253	MAN1B1	ORPHA:397941
HP:0002342	Intellectual disability, moderate	11253	MAN1B1	OMIM:614202
HP:0002342	Intellectual disability, moderate	55703	POLR3B	OMIM:614381
HP:0002342	Intellectual disability, moderate	27316	RBMX	OMIM:300238
HP:0002342	Intellectual disability, moderate	50651	SLC45A1	OMIM:617532
HP:0002342	Intellectual disability, moderate	2132	EXT2	OMIM:616682
HP:0002342	Intellectual disability, moderate	2132	EXT2	ORPHA:466926
HP:0002342	Intellectual disability, moderate	5238	PGM3	ORPHA:443811
HP:0002342	Intellectual disability, moderate	26040	SETBP1	ORPHA:436151
HP:0002342	Intellectual disability, moderate	1788	DNMT3A	ORPHA:404443
HP:0002342	Intellectual disability, moderate	51343	FZR1	OMIM:620145
HP:0002342	Intellectual disability, moderate	324	APC	ORPHA:79665
HP:0002342	Intellectual disability, moderate	64324	NSD1	ORPHA:821
HP:0002342	Intellectual disability, moderate	29072	SETD2	ORPHA:821
HP:0002342	Intellectual disability, moderate	10297	APC2	ORPHA:821
HP:0002342	Intellectual disability, moderate	3190	HNRNPK	ORPHA:453504
HP:0002342	Intellectual disability, moderate	3190	HNRNPK	ORPHA:352665
HP:0002342	Intellectual disability, moderate	4784	NFIX	ORPHA:447980
HP:0002342	Intellectual disability, moderate	4784	NFIX	ORPHA:420179
HP:0002342	Intellectual disability, moderate	4784	NFIX	OMIM:602535
HP:0002342	Intellectual disability, moderate	54968	TMEM70	ORPHA:1194
HP:0002342	Intellectual disability, moderate	1278	COL1A2	ORPHA:230851
HP:0002342	Intellectual disability, moderate	7552	ZNF711	OMIM:300803
HP:0002342	Intellectual disability, moderate	56997	COQ8A	ORPHA:139485
HP:0002342	Intellectual disability, moderate	25914	RTTN	OMIM:614833
HP:0002342	Intellectual disability, moderate	80055	PGAP1	OMIM:615802
HP:0002342	Intellectual disability, moderate	56623	INPP5E	ORPHA:75858
HP:0002342	Intellectual disability, moderate	56623	INPP5E	OMIM:610156
HP:0002342	Intellectual disability, moderate	56623	INPP5E	ORPHA:1454
HP:0002342	Intellectual disability, moderate	10847	SRCAP	ORPHA:2044
HP:0002342	Intellectual disability, moderate	9382	COG1	OMIM:611209
HP:0002342	Intellectual disability, moderate	9382	COG1	ORPHA:263508
HP:0002342	Intellectual disability, moderate	2192	FBLN1	ORPHA:404451
HP:0002342	Intellectual disability, moderate	284403	WDR62	OMIM:604317
HP:0002342	Intellectual disability, moderate	64601	VPS16	OMIM:619291
HP:0002342	Intellectual disability, moderate	84992	PIGY	ORPHA:247262
HP:0002342	Intellectual disability, moderate	84720	PIGO	ORPHA:247262
HP:0002342	Intellectual disability, moderate	93210	PGAP3	ORPHA:247262
HP:0002342	Intellectual disability, moderate	284098	PIGW	ORPHA:247262
HP:0002342	Intellectual disability, moderate	27315	PGAP2	ORPHA:247262
HP:0002342	Intellectual disability, moderate	55650	PIGV	ORPHA:247262
HP:0002342	Intellectual disability, moderate	9487	PIGL	ORPHA:247262
HP:0002342	Intellectual disability, moderate	288	ANK3	OMIM:615493
HP:0002342	Intellectual disability, moderate	288	ANK3	ORPHA:356996
HP:0002342	Intellectual disability, moderate	284058	KANSL1	ORPHA:363958
HP:0002342	Intellectual disability, moderate	284058	KANSL1	ORPHA:363965
HP:0002342	Intellectual disability, moderate	9968	MED12	ORPHA:93932
HP:0002342	Intellectual disability, moderate	81857	MED25	ORPHA:464738
HP:0002342	Intellectual disability, moderate	5631	PRPS1	ORPHA:1187
HP:0002342	Intellectual disability, moderate	1183	CLCN4	ORPHA:485350
HP:0002342	Intellectual disability, moderate	343641	TGM6	ORPHA:276193
HP:0002342	Intellectual disability, moderate	6872	TAF1	ORPHA:480907
HP:0002342	Intellectual disability, moderate	51651	PTRH2	ORPHA:456312
HP:0002342	Intellectual disability, moderate	51651	PTRH2	OMIM:616263
HP:0002342	Intellectual disability, moderate	23312	DMXL2	OMIM:616113
HP:0002342	Intellectual disability, moderate	23312	DMXL2	ORPHA:453533
HP:0002342	Intellectual disability, moderate	6999	TDO2	OMIM:600627
HP:0002342	Intellectual disability, moderate	2903	GRIN2A	ORPHA:289266
HP:0002342	Intellectual disability, moderate	10352	WARS2	ORPHA:572798
HP:0002342	Intellectual disability, moderate	1009	CDH11	ORPHA:1299
HP:0002342	Intellectual disability, moderate	7291	TWIST1	OMIM:101400
HP:0002342	Intellectual disability, moderate	7291	TWIST1	ORPHA:794
HP:0002342	Intellectual disability, moderate	2263	FGFR2	OMIM:101400
HP:0002342	Intellectual disability, moderate	2263	FGFR2	ORPHA:794
HP:0002342	Intellectual disability, moderate	54496	PRMT7	ORPHA:464288
HP:0002342	Intellectual disability, moderate	1798	DPAGT1	ORPHA:86309
HP:0002342	Intellectual disability, moderate	2746	GLUD1	ORPHA:35878
HP:0002342	Intellectual disability, moderate	5354	PLP1	ORPHA:280224
HP:0002342	Intellectual disability, moderate	5354	PLP1	ORPHA:280234
HP:0002342	Intellectual disability, moderate	8905	AP1S2	ORPHA:85335
HP:0002342	Intellectual disability, moderate	8905	AP1S2	OMIM:304340
HP:0002342	Intellectual disability, moderate	2332	FMR1	ORPHA:908
HP:0002342	Intellectual disability, moderate	2332	FMR1	OMIM:300624
HP:0002342	Intellectual disability, moderate	8239	USP9X	ORPHA:480880
HP:0002342	Intellectual disability, moderate	27086	FOXP1	ORPHA:391372
HP:0002342	Intellectual disability, moderate	79633	FAT4	ORPHA:314679
HP:0002342	Intellectual disability, moderate	8642	DCHS1	ORPHA:314679
HP:0002342	Intellectual disability, moderate	5832	ALDH18A1	OMIM:219150
HP:0002342	Intellectual disability, moderate	11128	POLR3A	ORPHA:3455
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:98754
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:177904
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:177901
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:98754
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:177904
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:177901
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:98754
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:177904
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:177901
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:98754
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:177904
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:177901
HP:0002342	Intellectual disability, moderate	23314	SATB2	ORPHA:576283
HP:0002342	Intellectual disability, moderate	8573	CASK	ORPHA:163937
HP:0002342	Intellectual disability, moderate	8573	CASK	OMIM:300749
HP:0002342	Intellectual disability, moderate	111	ADCY5	OMIM:619651
HP:0002342	Intellectual disability, moderate	10735	STAG2	ORPHA:521258
HP:0002342	Intellectual disability, moderate	2961	GTF2E2	OMIM:616943
HP:0002342	Intellectual disability, moderate	10815	CPLX1	ORPHA:352582
HP:0002342	Intellectual disability, moderate	57465	TBC1D24	ORPHA:352582
HP:0002342	Intellectual disability, moderate	4556	MT-TE	ORPHA:2596
HP:0002342	Intellectual disability, moderate	10682	EBP	OMIM:302960
HP:0002342	Intellectual disability, moderate	6567	SLC16A2	ORPHA:59
HP:0002342	Intellectual disability, moderate	3798	KIF5A	ORPHA:100991
HP:0002342	Intellectual disability, moderate	60529	ALX4	ORPHA:228390
HP:0002342	Intellectual disability, moderate	51117	COQ4	OMIM:616276
HP:0002342	Intellectual disability, moderate	55280	CWF19L1	ORPHA:453521
HP:0002342	Intellectual disability, moderate	7319	UBE2A	ORPHA:163956
HP:0002342	Intellectual disability, moderate	2902	GRIN1	ORPHA:208447
HP:0002342	Intellectual disability, moderate	80816	ASXL3	ORPHA:352577
HP:0002342	Intellectual disability, moderate	2261	FGFR3	ORPHA:794
HP:0002342	Intellectual disability, moderate	6323	SCN1A	OMIM:607208
HP:0002342	Intellectual disability, moderate	57526	PCDH19	ORPHA:101039
HP:0002342	Intellectual disability, moderate	57526	PCDH19	OMIM:300088
HP:0002342	Intellectual disability, moderate	3155	HMGCL	ORPHA:20
HP:0002342	Intellectual disability, moderate	10466	COG5	ORPHA:263487
HP:0002342	Intellectual disability, moderate	51621	KLF13	OMIM:612001
HP:0002342	Intellectual disability, moderate	1139	CHRNA7	OMIM:612001
HP:0002342	Intellectual disability, moderate	10765	KDM5B	OMIM:618109
HP:0002342	Intellectual disability, moderate	100151683	RNU4ATAC	ORPHA:353298
HP:0002342	Intellectual disability, moderate	10586	MAB21L2	OMIM:615877
HP:0002342	Intellectual disability, moderate	85358	SHANK3	OMIM:606232
HP:0002342	Intellectual disability, moderate	1950	EGF	OMIM:611718
HP:0002342	Intellectual disability, moderate	170302	ARX	ORPHA:94083
HP:0002342	Intellectual disability, moderate	91147	TMEM67	OMIM:216360
HP:0002342	Intellectual disability, moderate	91147	TMEM67	ORPHA:1454
HP:0002342	Intellectual disability, moderate	51103	NDUFAF1	OMIM:618234
HP:0002342	Intellectual disability, moderate	79133	NDUFAF5	OMIM:618238
HP:0002342	Intellectual disability, moderate	3897	L1CAM	ORPHA:306617
HP:0002342	Intellectual disability, moderate	6301	SARS1	OMIM:617709
HP:0002342	Intellectual disability, moderate	6904	TBCD	ORPHA:496641
HP:0002342	Intellectual disability, moderate	84679	SLC9A7	OMIM:301024
HP:0002342	Intellectual disability, moderate	4810	NHS	OMIM:302350
HP:0002342	Intellectual disability, moderate	24140	FTSJ1	OMIM:309549
HP:0002342	Intellectual disability, moderate	8831	SYNGAP1	ORPHA:544254
HP:0002342	Intellectual disability, moderate	8831	SYNGAP1	OMIM:612621
HP:0002342	Intellectual disability, moderate	6597	SMARCA4	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6598	SMARCB1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6659	SOX4	ORPHA:1465
HP:0002342	Intellectual disability, moderate	8289	ARID1A	ORPHA:1465
HP:0002342	Intellectual disability, moderate	5977	DPF2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6601	SMARCC2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6602	SMARCD1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	57492	ARID1B	ORPHA:1465
HP:0002342	Intellectual disability, moderate	196528	ARID2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6605	SMARCE1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6664	SOX11	ORPHA:1465
HP:0002342	Intellectual disability, moderate	23389	MED13L	ORPHA:369891
HP:0002342	Intellectual disability, moderate	23389	MED13L	OMIM:616789
HP:0002342	Intellectual disability, moderate	64093	SMOC1	ORPHA:1106
HP:0002342	Intellectual disability, moderate	22827	PUF60	ORPHA:508488
HP:0002342	Intellectual disability, moderate	80185	TTI2	OMIM:615541
HP:0002342	Intellectual disability, moderate	80185	TTI2	ORPHA:391307
HP:0002342	Intellectual disability, moderate	23322	RPGRIP1L	ORPHA:1454
HP:0002342	Intellectual disability, moderate	57545	CC2D2A	ORPHA:1454
HP:0002342	Intellectual disability, moderate	5723	PSPH	ORPHA:79350
HP:0002342	Intellectual disability, moderate	57187	THOC2	ORPHA:457240
HP:0002342	Intellectual disability, moderate	4204	MECP2	ORPHA:3077
HP:0002342	Intellectual disability, moderate	3251	HPRT1	ORPHA:510
HP:0002342	Intellectual disability, moderate	9791	PTDSS1	OMIM:151050
HP:0002342	Intellectual disability, moderate	8812	CCNK	OMIM:618147
HP:0002342	Intellectual disability, moderate	27107	ZBTB11	OMIM:618383
HP:0002342	Intellectual disability, moderate	2892	GRIA3	ORPHA:364028
HP:0002342	Intellectual disability, moderate	1861	TOR1A	OMIM:618947
HP:0002342	Intellectual disability, moderate	131669	UROC1	OMIM:276880
HP:0002342	Intellectual disability, moderate	4983	OPHN1	ORPHA:137831
HP:0002342	Intellectual disability, moderate	6925	TCF4	ORPHA:2896
HP:0002342	Intellectual disability, moderate	26047	CNTNAP2	ORPHA:163681
HP:0002342	Intellectual disability, moderate	10283	CWC27	ORPHA:166035
HP:0002342	Intellectual disability, moderate	953	ENTPD1	OMIM:615683
HP:0002342	Intellectual disability, moderate	9918	NCAPD2	OMIM:617983
HP:0002342	Intellectual disability, moderate	55755	CDK5RAP2	OMIM:604804
HP:0002342	Intellectual disability, moderate	6472	SHMT2	OMIM:619121
HP:0002342	Intellectual disability, moderate	5075	PAX1	OMIM:615560
HP:0002342	Intellectual disability, moderate	29123	ANKRD11	ORPHA:261250
HP:0002342	Intellectual disability, moderate	207	AKT1	OMIM:176920
HP:0002342	Intellectual disability, moderate	23397	NCAPH	OMIM:617985
HP:0002342	Intellectual disability, moderate	8450	CUL4B	ORPHA:85293
HP:0002342	Intellectual disability, moderate	5495	PPM1B	ORPHA:163693
HP:0002342	Intellectual disability, moderate	6519	SLC3A1	ORPHA:163693
HP:0002342	Intellectual disability, moderate	9581	PREPL	ORPHA:163693
HP:0002342	Intellectual disability, moderate	79823	CAMKMT	ORPHA:163693
HP:0002342	Intellectual disability, moderate	54888	NSUN2	OMIM:611091
HP:0002342	Intellectual disability, moderate	5528	PPP2R5D	ORPHA:457279
HP:0002342	Intellectual disability, moderate	89970	RSPRY1	ORPHA:457395
HP:0002342	Intellectual disability, moderate	55835	CENPJ	OMIM:608393
HP:0002342	Intellectual disability, moderate	84668	HYCC1	ORPHA:85163
HP:0002342	Intellectual disability, moderate	64131	XYLT1	ORPHA:370930
HP:0002342	Intellectual disability, moderate	11141	IL1RAPL1	OMIM:300143
HP:0002342	Intellectual disability, moderate	23001	WDFY3	OMIM:617520
HP:0002342	Intellectual disability, moderate	51109	RDH11	ORPHA:436245
HP:0002342	Intellectual disability, moderate	10369	CACNG2	OMIM:614256
HP:0002342	Intellectual disability, moderate	284217	LAMA1	ORPHA:370022
HP:0002342	Intellectual disability, moderate	23443	SLC35A3	ORPHA:370943
HP:0002343	Normal pressure hydrocephalus	2074	ERCC6	OMIM:133540
HP:0002343	Normal pressure hydrocephalus	10381	TUBB3	ORPHA:300570
HP:0002343	Normal pressure hydrocephalus	80217	CFAP43	OMIM:236690
HP:0002343	Normal pressure hydrocephalus	1161	ERCC8	OMIM:216400
HP:0002344	Progressive neurologic deterioration	2074	ERCC6	OMIM:214150
HP:0002344	Progressive neurologic deterioration	2074	ERCC6	ORPHA:90324
HP:0002344	Progressive neurologic deterioration	3735	KARS1	OMIM:619196
HP:0002344	Progressive neurologic deterioration	1497	CTNS	OMIM:219800
HP:0002344	Progressive neurologic deterioration	26277	TINF2	OMIM:268130
HP:0002344	Progressive neurologic deterioration	64849	SLC13A3	OMIM:618384
HP:0002344	Progressive neurologic deterioration	3028	HSD17B10	OMIM:300438
HP:0002344	Progressive neurologic deterioration	23516	SLC39A14	OMIM:617013
HP:0002344	Progressive neurologic deterioration	1161	ERCC8	ORPHA:90324
HP:0002344	Progressive neurologic deterioration	100151683	RNU4ATAC	OMIM:210710
HP:0002344	Progressive neurologic deterioration	2643	GCH1	OMIM:233910
HP:0002344	Progressive neurologic deterioration	773	CACNA1A	ORPHA:2131
HP:0002344	Progressive neurologic deterioration	6507	SLC1A3	ORPHA:2131
HP:0002344	Progressive neurologic deterioration	477	ATP1A2	ORPHA:2131
HP:0002344	Progressive neurologic deterioration	478	ATP1A3	ORPHA:2131
HP:0002344	Progressive neurologic deterioration	123263	MTFMT	OMIM:614947
HP:0002344	Progressive neurologic deterioration	4001	LMNB1	OMIM:169500
HP:0002344	Progressive neurologic deterioration	2629	GBA1	OMIM:608013
HP:0002344	Progressive neurologic deterioration	2629	GBA1	OMIM:230900
HP:0002344	Progressive neurologic deterioration	2629	GBA1	OMIM:231000
HP:0002344	Progressive neurologic deterioration	10128	LRPPRC	ORPHA:70472
HP:0002344	Progressive neurologic deterioration	26275	HIBCH	ORPHA:88639
HP:0002344	Progressive neurologic deterioration	8867	SYNJ1	OMIM:617389
HP:0002344	Progressive neurologic deterioration	2581	GALC	ORPHA:206448
HP:0002344	Progressive neurologic deterioration	2581	GALC	ORPHA:206436
HP:0002344	Progressive neurologic deterioration	5660	PSAP	OMIM:611722
HP:0002344	Progressive neurologic deterioration	5660	PSAP	ORPHA:206436
HP:0002344	Progressive neurologic deterioration	5873	RAB27A	OMIM:607624
HP:0002344	Progressive neurologic deterioration	5805	PTS	OMIM:261640
HP:0002344	Progressive neurologic deterioration	1537	CYC1	OMIM:615453
HP:0002344	Progressive neurologic deterioration	7415	VCP	ORPHA:329478
HP:0002344	Progressive neurologic deterioration	125988	MICOS13	OMIM:618329
HP:0002344	Progressive neurologic deterioration	5832	ALDH18A1	ORPHA:447757
HP:0002344	Progressive neurologic deterioration	57192	MCOLN1	OMIM:252650
HP:0002344	Progressive neurologic deterioration	3172	HNF4A	ORPHA:263455
HP:0002344	Progressive neurologic deterioration	10715	CERS1	OMIM:616230
HP:0002344	Progressive neurologic deterioration	11277	TREX1	ORPHA:247691
HP:0002344	Progressive neurologic deterioration	5159	PDGFRB	OMIM:616592
HP:0002344	Progressive neurologic deterioration	5860	QDPR	OMIM:261630
HP:0002344	Progressive neurologic deterioration	51300	TIMMDC1	OMIM:618251
HP:0002344	Progressive neurologic deterioration	4700	NDUFA6	OMIM:618253
HP:0002344	Progressive neurologic deterioration	50484	RRM2B	OMIM:612075
HP:0002344	Progressive neurologic deterioration	7957	EPM2A	OMIM:254780
HP:0002344	Progressive neurologic deterioration	378884	NHLRC1	OMIM:254780
HP:0002344	Progressive neurologic deterioration	9445	ITM2B	OMIM:176500
HP:0002344	Progressive neurologic deterioration	3425	IDUA	OMIM:607014
HP:0002344	Progressive neurologic deterioration	4669	NAGLU	OMIM:252920
HP:0002344	Progressive neurologic deterioration	220296	HEPACAM	OMIM:613925
HP:0002344	Progressive neurologic deterioration	26047	CNTNAP2	OMIM:610042
HP:0002344	Progressive neurologic deterioration	26047	CNTNAP2	ORPHA:163681
HP:0002344	Progressive neurologic deterioration	2896	GRN	OMIM:607485
HP:0002344	Progressive neurologic deterioration	154881	KCTD7	ORPHA:263516
HP:0002344	Progressive neurologic deterioration	1593	CYP27A1	ORPHA:909
HP:0002344	Progressive neurologic deterioration	410	ARSA	ORPHA:309271
HP:0002344	Progressive neurologic deterioration	410	ARSA	ORPHA:309263
HP:0002344	Progressive neurologic deterioration	6389	SDHA	ORPHA:3208
HP:0002344	Progressive neurologic deterioration	6390	SDHB	ORPHA:3208
HP:0002344	Progressive neurologic deterioration	6392	SDHD	ORPHA:3208
HP:0002344	Progressive neurologic deterioration	644096	SDHAF1	ORPHA:3208
HP:0002344	Progressive neurologic deterioration	26580	BSCL2	ORPHA:363400
HP:0002344	Progressive neurologic deterioration	2720	GLB1	OMIM:230600
HP:0002344	Progressive neurologic deterioration	23203	PMPCA	ORPHA:1170
HP:0002344	Progressive neurologic deterioration	3074	HEXB	OMIM:268800
HP:0002344	Progressive neurologic deterioration	285362	SUMF1	ORPHA:585
HP:0002344	Progressive neurologic deterioration	285362	SUMF1	OMIM:272200
HP:0002345	Action tremor	773	CACNA1A	OMIM:183086
HP:0002345	Action tremor	773	CACNA1A	ORPHA:98758
HP:0002345	Action tremor	9524	TECR	OMIM:614020
HP:0002345	Action tremor	124997	WDR81	OMIM:610185
HP:0002345	Action tremor	1161	ERCC8	ORPHA:90324
HP:0002345	Action tremor	2074	ERCC6	ORPHA:90324
HP:0002345	Action tremor	775	CACNA1C	OMIM:620029
HP:0002345	Action tremor	23600	AMACR	OMIM:614307
HP:0002345	Action tremor	5457	POU4F1	ORPHA:314647
HP:0002345	Action tremor	5457	POU4F1	OMIM:619352
HP:0002345	Action tremor	23261	CAMTA1	ORPHA:314647
HP:0002345	Action tremor	144165	PRICKLE1	ORPHA:308
HP:0002345	Action tremor	1476	CSTB	ORPHA:308
HP:0002345	Action tremor	85300	ATCAY	ORPHA:94122
HP:0002345	Action tremor	85300	ATCAY	OMIM:601238
HP:0002345	Action tremor	6712	SPTBN2	ORPHA:352403
HP:0002345	Action tremor	6712	SPTBN2	OMIM:600224
HP:0002345	Action tremor	6712	SPTBN2	OMIM:615386
HP:0002345	Action tremor	57165	GJC2	OMIM:608804
HP:0002345	Action tremor	57165	GJC2	OMIM:613206
HP:0002345	Action tremor	221496	LEMD2	OMIM:619322
HP:0002345	Action tremor	440193	CCDC88C	OMIM:616053
HP:0002345	Action tremor	440193	CCDC88C	ORPHA:423275
HP:0002345	Action tremor	23114	NFASC	OMIM:618356
HP:0002345	Action tremor	51506	UFC1	OMIM:618076
HP:0002345	Action tremor	5917	RARS1	ORPHA:438114
HP:0002345	Action tremor	5917	RARS1	OMIM:616140
HP:0002345	Action tremor	472	ATM	OMIM:208900
HP:0002345	Action tremor	10501	SEMA6B	OMIM:618876
HP:0002345	Action tremor	3781	KCNN2	OMIM:619725
HP:0002345	Action tremor	343641	TGM6	OMIM:613908
HP:0002345	Action tremor	343641	TGM6	ORPHA:276193
HP:0002345	Action tremor	410	ARSA	ORPHA:309271
HP:0002345	Action tremor	410	ARSA	ORPHA:309263
HP:0002345	Action tremor	5660	PSAP	ORPHA:309271
HP:0002345	Action tremor	5660	PSAP	ORPHA:309263
HP:0002345	Action tremor	5660	PSAP	OMIM:610539
HP:0002345	Action tremor	2058	EPRS1	OMIM:617951
HP:0002345	Action tremor	7436	VLDLR	OMIM:224050
HP:0002345	Action tremor	267010	RNU12	OMIM:620208
HP:0002345	Action tremor	267010	RNU12	ORPHA:512260
HP:0002345	Action tremor	91137	SLC25A46	OMIM:616505
HP:0002345	Action tremor	7080	NKX2-1	ORPHA:209905
HP:0002345	Action tremor	7276	TTR	OMIM:105210
HP:0002345	Action tremor	22	ABCB7	OMIM:301310
HP:0002345	Action tremor	26278	SACS	ORPHA:98
HP:0002345	Action tremor	9445	ITM2B	OMIM:117300
HP:0002345	Action tremor	54968	TMEM70	OMIM:614052
HP:0002345	Action tremor	54664	TMEM106B	OMIM:617964
HP:0002345	Action tremor	26090	ABHD12	OMIM:612674
HP:0002345	Action tremor	2705	GJB1	ORPHA:1175
HP:0002345	Action tremor	27010	TPK1	OMIM:614458
HP:0002345	Action tremor	2395	FXN	ORPHA:95
HP:0002345	Action tremor	6908	TBP	OMIM:607136
HP:0002345	Action tremor	10528	NOP56	ORPHA:276198
HP:0002345	Action tremor	5373	PMM2	OMIM:212065
HP:0002345	Action tremor	50801	KCNK4	OMIM:618381
HP:0002345	Action tremor	56006	SMG9	OMIM:619995
HP:0002345	Action tremor	9150	CTDP1	ORPHA:48431
HP:0002345	Action tremor	55280	CWF19L1	OMIM:616127
HP:0002345	Action tremor	55280	CWF19L1	ORPHA:453521
HP:0002345	Action tremor	4361	MRE11	ORPHA:251347
HP:0002345	Action tremor	4983	OPHN1	ORPHA:137831
HP:0002345	Action tremor	54499	TMCO1	OMIM:213980
HP:0002345	Action tremor	5293	PIK3CD	ORPHA:221139
HP:0002345	Action tremor	90417	KNSTRN	ORPHA:221139
HP:0002345	Action tremor	10908	PNPLA6	OMIM:215470
HP:0002345	Action tremor	5728	PTEN	OMIM:158350
HP:0002345	Action tremor	54870	QRICH1	OMIM:617982
HP:0002345	Action tremor	5192	PEX10	OMIM:614871
HP:0002345	Action tremor	81562	LMAN2L	OMIM:617863
HP:0002345	Action tremor	3295	HSD17B4	OMIM:233400
HP:0002345	Action tremor	6785	ELOVL4	OMIM:133190
HP:0002345	Action tremor	10667	FARS2	ORPHA:466722
HP:0002345	Action tremor	55129	ANO10	ORPHA:284289
HP:0002345	Action tremor	55129	ANO10	OMIM:613728
HP:0002345	Action tremor	5981	RFC1	ORPHA:504476
HP:0002345	Action tremor	4841	NONO	ORPHA:466791
HP:0002345	Action tremor	2937	GSS	OMIM:266130
HP:0002345	Action tremor	9725	TMEM63A	OMIM:618688
HP:0002345	Action tremor	404672	GTF2H5	ORPHA:33364
HP:0002345	Action tremor	833	CARS1	ORPHA:33364
HP:0002345	Action tremor	2068	ERCC2	ORPHA:33364
HP:0002345	Action tremor	7737	RNF113A	ORPHA:33364
HP:0002345	Action tremor	136647	MPLKIP	ORPHA:33364
HP:0002345	Action tremor	6897	TARS1	ORPHA:33364
HP:0002345	Action tremor	2071	ERCC3	ORPHA:33364
HP:0002345	Action tremor	2961	GTF2E2	ORPHA:33364
HP:0002345	Action tremor	200403	VWA3B	OMIM:616948
HP:0002345	Action tremor	57410	SCYL1	ORPHA:466794
HP:0002345	Action tremor	54936	ADPRS	OMIM:618170
HP:0002345	Action tremor	25793	FBXO7	ORPHA:171695
HP:0002345	Action tremor	6622	SNCA	ORPHA:171695
HP:0002345	Action tremor	5290	PIK3CA	OMIM:615108
HP:0002345	Action tremor	207	AKT1	OMIM:615109
HP:0002345	Action tremor	6342	SCP2	OMIM:613724
HP:0002345	Action tremor	5297	PI4KA	OMIM:619708
HP:0002345	Action tremor	353116	RILPL1	OMIM:619790
HP:0002345	Action tremor	2643	GCH1	OMIM:128230
HP:0002345	Action tremor	2643	GCH1	ORPHA:98808
HP:0002345	Action tremor	80207	OPA3	ORPHA:67036
HP:0002345	Action tremor	123606	NIPA1	ORPHA:100988
HP:0002345	Action tremor	4929	NR4A2	ORPHA:98808
HP:0002345	Action tremor	4929	NR4A2	OMIM:619911
HP:0002345	Action tremor	3615	IMPDH2	ORPHA:98808
HP:0002345	Action tremor	23533	PIK3R5	ORPHA:64753
HP:0002345	Action tremor	23064	SETX	ORPHA:64753
HP:0002345	Action tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0002345	Action tremor	27235	COQ2	ORPHA:227510
HP:0002345	Action tremor	27235	COQ2	ORPHA:98933
HP:0002345	Action tremor	9256	TSPOAP1	ORPHA:101150
HP:0002345	Action tremor	7054	TH	ORPHA:101150
HP:0002345	Action tremor	84277	DNAJC30	ORPHA:104
HP:0002345	Action tremor	4535	MT-ND1	ORPHA:104
HP:0002345	Action tremor	4535	MT-ND1	OMIM:535000
HP:0002345	Action tremor	4536	MT-ND2	ORPHA:104
HP:0002345	Action tremor	4536	MT-ND2	OMIM:535000
HP:0002345	Action tremor	4538	MT-ND4	ORPHA:104
HP:0002345	Action tremor	4538	MT-ND4	OMIM:535000
HP:0002345	Action tremor	4720	NDUFS2	ORPHA:104
HP:0002345	Action tremor	4512	MT-CO1	ORPHA:104
HP:0002345	Action tremor	4514	MT-CO3	ORPHA:104
HP:0002345	Action tremor	4514	MT-CO3	OMIM:535000
HP:0002345	Action tremor	4519	MT-CYB	ORPHA:104
HP:0002345	Action tremor	4519	MT-CYB	OMIM:535000
HP:0002345	Action tremor	4508	MT-ATP6	ORPHA:104
HP:0002345	Action tremor	4508	MT-ATP6	OMIM:535000
HP:0002345	Action tremor	4540	MT-ND5	ORPHA:104
HP:0002345	Action tremor	4540	MT-ND5	OMIM:535000
HP:0002345	Action tremor	4541	MT-ND6	ORPHA:104
HP:0002345	Action tremor	4541	MT-ND6	OMIM:535000
HP:0002345	Action tremor	4539	MT-ND4L	ORPHA:104
HP:0002345	Action tremor	4539	MT-ND4L	OMIM:535000
HP:0002345	Action tremor	5155	PDGFB	OMIM:615483
HP:0002345	Action tremor	26011	TENM4	OMIM:616736
HP:0002345	Action tremor	2259	FGF14	OMIM:193003
HP:0002345	Action tremor	2259	FGF14	OMIM:620174
HP:0002345	Action tremor	23400	ATP13A2	ORPHA:314632
HP:0002345	Action tremor	6310	ATXN1	ORPHA:98755
HP:0002345	Action tremor	8575	PRKRA	ORPHA:210571
HP:0002345	Action tremor	8575	PRKRA	OMIM:612067
HP:0002345	Action tremor	2898	GRIK2	OMIM:611092
HP:0002345	Action tremor	7345	UCHL1	OMIM:615491
HP:0002345	Action tremor	10273	STUB1	ORPHA:412057
HP:0002345	Action tremor	4604	MYBPC1	OMIM:618524
HP:0002345	Action tremor	80208	SPG11	OMIM:616668
HP:0002345	Action tremor	3752	KCND3	OMIM:607346
HP:0002345	Action tremor	5832	ALDH18A1	ORPHA:447757
HP:0002345	Action tremor	5832	ALDH18A1	ORPHA:447760
HP:0002345	Action tremor	26580	BSCL2	OMIM:270685
HP:0002345	Action tremor	26580	BSCL2	ORPHA:100998
HP:0002345	Action tremor	9217	VAPB	OMIM:608627
HP:0002345	Action tremor	10397	NDRG1	ORPHA:99950
HP:0002345	Action tremor	9420	CYP7B1	OMIM:270800
HP:0002345	Action tremor	11315	PARK7	OMIM:606324
HP:0002345	Action tremor	51308	REEP2	ORPHA:401849
HP:0002345	Action tremor	10935	PRDX3	OMIM:619862
HP:0002345	Action tremor	339453	TMEM240	OMIM:607454
HP:0002345	Action tremor	5277	PIGA	OMIM:301072
HP:0002345	Action tremor	9927	MFN2	ORPHA:99947
HP:0002345	Action tremor	55703	POLR3B	OMIM:607694
HP:0002345	Action tremor	2592	GALT	ORPHA:79239
HP:0002345	Action tremor	3708	ITPR1	OMIM:606658
HP:0002345	Action tremor	3708	ITPR1	ORPHA:98769
HP:0002345	Action tremor	57338	JPH3	OMIM:606438
HP:0002345	Action tremor	55768	NGLY1	OMIM:615273
HP:0002345	Action tremor	55768	NGLY1	ORPHA:404454
HP:0002345	Action tremor	1181	CLCN2	OMIM:615651
HP:0002345	Action tremor	2521	FUS	OMIM:614782
HP:0002345	Action tremor	55532	SLC30A10	ORPHA:309854
HP:0002345	Action tremor	10352	WARS2	OMIM:619738
HP:0002345	Action tremor	2678	GGT1	OMIM:231950
HP:0002345	Action tremor	131669	UROC1	OMIM:276880
HP:0002345	Action tremor	131669	UROC1	ORPHA:210128
HP:0002345	Action tremor	131118	DNAJC19	ORPHA:66634
HP:0002345	Action tremor	6335	SCN9A	ORPHA:33069
HP:0002345	Action tremor	6326	SCN2A	ORPHA:33069
HP:0002345	Action tremor	2554	GABRA1	ORPHA:33069
HP:0002345	Action tremor	6323	SCN1A	ORPHA:33069
HP:0002345	Action tremor	6324	SCN1B	ORPHA:33069
HP:0002345	Action tremor	57526	PCDH19	ORPHA:33069
HP:0002345	Action tremor	2566	GABRG2	ORPHA:33069
HP:0002345	Action tremor	80704	SLC19A3	OMIM:607483
HP:0002345	Action tremor	10159	ATP6AP2	ORPHA:93952
HP:0002345	Action tremor	10159	ATP6AP2	OMIM:300423
HP:0002345	Action tremor	4359	MPZ	OMIM:180800
HP:0002345	Action tremor	5376	PMP22	OMIM:180800
HP:0002345	Action tremor	5521	PPP2R2B	OMIM:604326
HP:0002345	Action tremor	5521	PPP2R2B	ORPHA:98762
HP:0002345	Action tremor	1822	ATN1	ORPHA:101
HP:0002345	Action tremor	492	ATP2B3	OMIM:302500
HP:0002345	Action tremor	492	ATP2B3	ORPHA:314978
HP:0002345	Action tremor	3766	KCNJ10	ORPHA:199343
HP:0002345	Action tremor	6548	SLC9A1	OMIM:616291
HP:0002345	Action tremor	2332	FMR1	OMIM:300623
HP:0002345	Action tremor	7084	TK2	ORPHA:254886
HP:0002345	Action tremor	5428	POLG	ORPHA:254886
HP:0002345	Action tremor	1814	DRD3	OMIM:190300
HP:0002345	Action tremor	6311	ATXN2	OMIM:183090
HP:0002345	Action tremor	1293	COL6A3	OMIM:616411
HP:0002345	Action tremor	1293	COL6A3	ORPHA:464440
HP:0002345	Action tremor	7532	YWHAG	OMIM:617665
HP:0002345	Action tremor	950	SCARB2	OMIM:254900
HP:0002345	Action tremor	8996	NOL3	OMIM:614937
HP:0002345	Action tremor	4884	NPTX1	OMIM:620158
HP:0002345	Action tremor	4001	LMNB1	ORPHA:99027
HP:0002345	Action tremor	11128	POLR3A	ORPHA:3455
HP:0002345	Action tremor	16	AARS1	OMIM:619691
HP:0002345	Action tremor	10280	SIGMAR1	ORPHA:300605
HP:0002345	Action tremor	10558	SPTLC1	ORPHA:300605
HP:0002345	Action tremor	57679	ALS2	ORPHA:300605
HP:0002345	Action tremor	57679	ALS2	OMIM:205100
HP:0002345	Action tremor	84504	NKX6-2	OMIM:617560
HP:0002345	Action tremor	84504	NKX6-2	ORPHA:527497
HP:0002345	Action tremor	26275	HIBCH	ORPHA:88639
HP:0002345	Action tremor	26275	HIBCH	OMIM:250620
HP:0002345	Action tremor	3329	HSPD1	OMIM:612233
HP:0002345	Action tremor	23230	VPS13A	ORPHA:2388
HP:0002345	Action tremor	5610	EIF2AK2	OMIM:618877
HP:0002345	Action tremor	284217	LAMA1	ORPHA:370022
HP:0002345	Action tremor	10382	TUBB4A	ORPHA:98805
HP:0002345	Action tremor	8398	PLA2G6	OMIM:612953
HP:0002345	Action tremor	8913	CACNA1G	ORPHA:458803
HP:0002345	Action tremor	79587	CARS2	ORPHA:477774
HP:0002345	Action tremor	63982	ANO3	ORPHA:420485
HP:0002345	Action tremor	1200	TPP1	OMIM:609270
HP:0002345	Action tremor	54974	THG1L	OMIM:618800
HP:0002345	Action tremor	84668	HYCC1	OMIM:610532
HP:0002345	Action tremor	28982	FLVCR1	ORPHA:88628
HP:0002345	Action tremor	91452	ACBD5	OMIM:618863
HP:0002345	Action tremor	221927	BRAT1	OMIM:618056
HP:0002345	Action tremor	6711	SPTBN1	OMIM:619475
HP:0002345	Action tremor	25814	ATXN10	ORPHA:98761
HP:0002345	Action tremor	4128	MAOA	OMIM:300615
HP:0002345	Action tremor	10939	AFG3L2	ORPHA:101109
HP:0002345	Action tremor	63929	XPNPEP3	OMIM:613159
HP:0002345	Action tremor	84919	PPP1R15B	OMIM:616817
HP:0002345	Action tremor	3475	IFRD1	ORPHA:98771
HP:0002345	Action tremor	4099	MAG	ORPHA:459056
HP:0002345	Action tremor	10749	KIF1C	ORPHA:397946
HP:0002345	Action tremor	5354	PLP1	ORPHA:280210
HP:0002345	Action tremor	5354	PLP1	ORPHA:280219
HP:0002345	Action tremor	10531	PITRM1	OMIM:619405
HP:0002345	Action tremor	3748	KCNC3	ORPHA:98768
HP:0002346	Head tremor	25792	CIZ1	ORPHA:420492
HP:0002346	Head tremor	3475	IFRD1	ORPHA:98771
HP:0002346	Head tremor	8913	CACNA1G	ORPHA:458803
HP:0002346	Head tremor	63982	ANO3	OMIM:615034
HP:0002346	Head tremor	10273	STUB1	ORPHA:412057
HP:0002346	Head tremor	23533	PIK3R5	ORPHA:64753
HP:0002346	Head tremor	23064	SETX	ORPHA:64753
HP:0002346	Head tremor	23064	SETX	OMIM:606002
HP:0002346	Head tremor	57704	GBA2	ORPHA:352641
HP:0002346	Head tremor	57704	GBA2	OMIM:614409
HP:0002346	Head tremor	57704	GBA2	ORPHA:320391
HP:0002346	Head tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0002346	Head tremor	1786	DNMT1	ORPHA:314404
HP:0002346	Head tremor	5190	PEX6	ORPHA:95433
HP:0002346	Head tremor	3708	ITPR1	ORPHA:98769
HP:0002346	Head tremor	5354	PLP1	ORPHA:280219
HP:0002346	Head tremor	5521	PPP2R2B	OMIM:604326
HP:0002346	Head tremor	10939	AFG3L2	ORPHA:101109
HP:0002346	Head tremor	79628	SH3TC2	ORPHA:99949
HP:0002346	Head tremor	9731	CEP104	OMIM:619988
HP:0002346	Head tremor	3781	KCNN2	OMIM:619724
HP:0002346	Head tremor	81603	TRIM8	OMIM:619428
HP:0002346	Head tremor	6342	SCP2	OMIM:613724
HP:0002346	Head tremor	4884	NPTX1	OMIM:620158
HP:0002346	Head tremor	4747	NEFL	ORPHA:101085
HP:0002346	Head tremor	10528	NOP56	ORPHA:276198
HP:0002346	Head tremor	16	AARS1	OMIM:619691
HP:0002346	Head tremor	57165	GJC2	OMIM:608804
HP:0002346	Head tremor	2521	FUS	ORPHA:300605
HP:0002346	Head tremor	80208	SPG11	ORPHA:300605
HP:0002346	Head tremor	10280	SIGMAR1	ORPHA:300605
HP:0002346	Head tremor	10558	SPTLC1	ORPHA:300605
HP:0002346	Head tremor	57679	ALS2	ORPHA:300605
HP:0002346	Head tremor	57679	ALS2	OMIM:205100
HP:0002346	Head tremor	84504	NKX6-2	OMIM:617560
HP:0002346	Head tremor	84504	NKX6-2	ORPHA:527497
HP:0002346	Head tremor	26275	HIBCH	ORPHA:88639
HP:0002346	Head tremor	26275	HIBCH	OMIM:250620
HP:0002346	Head tremor	7345	UCHL1	OMIM:615491
HP:0002346	Head tremor	6711	SPTBN1	OMIM:619475
HP:0002346	Head tremor	3329	HSPD1	OMIM:612233
HP:0002346	Head tremor	267010	RNU12	OMIM:620208
HP:0002346	Head tremor	23230	VPS13A	ORPHA:2388
HP:0002346	Head tremor	9725	TMEM63A	OMIM:618688
HP:0002346	Head tremor	5610	EIF2AK2	OMIM:618877
HP:0002346	Head tremor	10749	KIF1C	OMIM:611302
HP:0002346	Head tremor	284217	LAMA1	ORPHA:370022
HP:0002346	Head tremor	4001	LMNB1	ORPHA:99027
HP:0002346	Head tremor	5297	PI4KA	OMIM:619708
HP:0002349	Focal aware seizure	6323	SCN1A	OMIM:607208
HP:0002349	Focal aware seizure	6323	SCN1A	ORPHA:33069
HP:0002349	Focal aware seizure	11198	SUPT16H	OMIM:619480
HP:0002349	Focal aware seizure	57165	GJC2	OMIM:608804
HP:0002349	Focal aware seizure	5649	RELN	OMIM:600512
HP:0002349	Focal aware seizure	5649	RELN	ORPHA:101046
HP:0002349	Focal aware seizure	64780	MICAL1	OMIM:600512
HP:0002349	Focal aware seizure	9211	LGI1	OMIM:600512
HP:0002349	Focal aware seizure	9211	LGI1	ORPHA:101046
HP:0002349	Focal aware seizure	9681	DEPDC5	ORPHA:101046
HP:0002349	Focal aware seizure	9681	DEPDC5	ORPHA:98820
HP:0002349	Focal aware seizure	26047	CNTNAP2	OMIM:610042
HP:0002349	Focal aware seizure	23732	FRRS1L	ORPHA:725
HP:0002349	Focal aware seizure	2903	GRIN2A	ORPHA:725
HP:0002349	Focal aware seizure	57094	CPA6	OMIM:614417
HP:0002349	Focal aware seizure	6335	SCN9A	ORPHA:33069
HP:0002349	Focal aware seizure	6326	SCN2A	ORPHA:33069
HP:0002349	Focal aware seizure	2554	GABRA1	ORPHA:33069
HP:0002349	Focal aware seizure	6324	SCN1B	ORPHA:33069
HP:0002349	Focal aware seizure	57526	PCDH19	ORPHA:33069
HP:0002349	Focal aware seizure	2566	GABRG2	ORPHA:33069
HP:0002349	Focal aware seizure	8131	NPRL3	ORPHA:98820
HP:0002349	Focal aware seizure	10641	NPRL2	ORPHA:98820
HP:0002349	Focal aware seizure	7187	TRAF3	ORPHA:1930
HP:0002349	Focal aware seizure	81622	UNC93B1	ORPHA:1930
HP:0002349	Focal aware seizure	148022	TICAM1	ORPHA:1930
HP:0002349	Focal aware seizure	7098	TLR3	ORPHA:1930
HP:0002349	Focal aware seizure	29110	TBK1	ORPHA:1930
HP:0002349	Focal aware seizure	501	ALDH7A1	ORPHA:3006
HP:0002349	Focal aware seizure	11212	PLPBP	ORPHA:3006
HP:0002349	Focal aware seizure	51083	GAL	OMIM:616461
HP:0012569	Delayed menarche	10273	STUB1	ORPHA:412057
HP:0012569	Delayed menarche	5192	PEX10	OMIM:614871
HP:0012569	Delayed menarche	4000	LMNA	ORPHA:740
HP:0012569	Delayed menarche	10269	ZMPSTE24	ORPHA:740
HP:0012569	Delayed menarche	10165	SLC25A13	ORPHA:247585
HP:0012569	Delayed menarche	7840	ALMS1	ORPHA:64
HP:0012569	Delayed menarche	10059	DNM1L	ORPHA:330050
HP:0012569	Delayed menarche	2488	FSHB	ORPHA:52901
HP:0012569	Delayed menarche	2690	GHR	OMIM:262500
HP:0012569	Delayed menarche	5781	PTPN11	OMIM:151100
HP:0550004	Verruca plana	147138	TMC8	OMIM:618231
HP:0002350	Cerebellar cyst	10682	EBP	ORPHA:401973
HP:0002350	Cerebellar cyst	10682	EBP	OMIM:300960
HP:0002350	Cerebellar cyst	10682	EBP	OMIM:302960
HP:0002350	Cerebellar cyst	56896	DPYSL5	OMIM:619435
HP:0002350	Cerebellar cyst	3265	HRAS	ORPHA:2612
HP:0002350	Cerebellar cyst	3845	KRAS	ORPHA:2612
HP:0002350	Cerebellar cyst	4893	NRAS	ORPHA:2612
HP:0002350	Cerebellar cyst	4893	NRAS	OMIM:249400
HP:0002350	Cerebellar cyst	23556	PIGN	ORPHA:2059
HP:0002350	Cerebellar cyst	7355	SLC35A2	ORPHA:356961
HP:0002350	Cerebellar cyst	65062	TMEM237	OMIM:614424
HP:0002350	Cerebellar cyst	65062	TMEM237	ORPHA:564
HP:0002350	Cerebellar cyst	7545	ZIC1	OMIM:616602
HP:0002350	Cerebellar cyst	7545	ZIC1	OMIM:618736
HP:0002350	Cerebellar cyst	84942	WDR73	OMIM:251300
HP:0002350	Cerebellar cyst	2737	GLI3	ORPHA:36
HP:0002350	Cerebellar cyst	374654	KIF7	ORPHA:36
HP:0002350	Cerebellar cyst	79848	CSPP1	ORPHA:397715
HP:0002350	Cerebellar cyst	79848	CSPP1	ORPHA:564
HP:0002350	Cerebellar cyst	9786	KIAA0586	ORPHA:397715
HP:0002350	Cerebellar cyst	57465	TBC1D24	OMIM:220500
HP:0002350	Cerebellar cyst	57465	TBC1D24	ORPHA:79500
HP:0002350	Cerebellar cyst	55112	DYNC2I1	ORPHA:93271
HP:0002350	Cerebellar cyst	57560	IFT80	ORPHA:93271
HP:0002350	Cerebellar cyst	57539	WDR35	ORPHA:93271
HP:0002350	Cerebellar cyst	89891	DYNC2I2	ORPHA:93271
HP:0002350	Cerebellar cyst	1436	CSF1R	OMIM:618476
HP:0002350	Cerebellar cyst	84162	BLTP1	OMIM:617822
HP:0002350	Cerebellar cyst	4081	MAB21L1	OMIM:618479
HP:0002350	Cerebellar cyst	51259	TMEM216	OMIM:603194
HP:0002350	Cerebellar cyst	51259	TMEM216	ORPHA:564
HP:0002350	Cerebellar cyst	55636	CHD7	ORPHA:138
HP:0002350	Cerebellar cyst	9723	SEMA3E	ORPHA:138
HP:0002350	Cerebellar cyst	9215	LARGE1	OMIM:236670
HP:0002350	Cerebellar cyst	9215	LARGE1	ORPHA:899
HP:0002350	Cerebellar cyst	9215	LARGE1	OMIM:613154
HP:0002350	Cerebellar cyst	84892	POMGNT2	ORPHA:899
HP:0002350	Cerebellar cyst	1282	COL4A1	ORPHA:899
HP:0002350	Cerebellar cyst	10329	RXYLT1	ORPHA:899
HP:0002350	Cerebellar cyst	11041	B4GAT1	ORPHA:899
HP:0002350	Cerebellar cyst	11041	B4GAT1	OMIM:615287
HP:0002350	Cerebellar cyst	79068	FTO	OMIM:612938
HP:0002350	Cerebellar cyst	57492	ARID1B	OMIM:135900
HP:0002350	Cerebellar cyst	57492	ARID1B	ORPHA:1465
HP:0002350	Cerebellar cyst	3899	AFF3	OMIM:619297
HP:0002350	Cerebellar cyst	6597	SMARCA4	ORPHA:1465
HP:0002350	Cerebellar cyst	6597	SMARCA4	OMIM:614609
HP:0002350	Cerebellar cyst	6598	SMARCB1	ORPHA:1465
HP:0002350	Cerebellar cyst	6598	SMARCB1	OMIM:614608
HP:0002350	Cerebellar cyst	6659	SOX4	ORPHA:1465
HP:0002350	Cerebellar cyst	8289	ARID1A	ORPHA:1465
HP:0002350	Cerebellar cyst	8289	ARID1A	OMIM:614607
HP:0002350	Cerebellar cyst	5977	DPF2	ORPHA:1465
HP:0002350	Cerebellar cyst	6601	SMARCC2	ORPHA:1465
HP:0002350	Cerebellar cyst	6602	SMARCD1	ORPHA:1465
HP:0002350	Cerebellar cyst	196528	ARID2	ORPHA:1465
HP:0002350	Cerebellar cyst	6605	SMARCE1	ORPHA:1465
HP:0002350	Cerebellar cyst	6605	SMARCE1	OMIM:616938
HP:0002350	Cerebellar cyst	6664	SOX11	ORPHA:1465
HP:0002350	Cerebellar cyst	23545	ATP6V0A2	ORPHA:2834
HP:0002350	Cerebellar cyst	23545	ATP6V0A2	OMIM:219200
HP:0002350	Cerebellar cyst	23545	ATP6V0A2	ORPHA:357074
HP:0002350	Cerebellar cyst	1801	DPH1	OMIM:616901
HP:0002350	Cerebellar cyst	1801	DPH1	ORPHA:459061
HP:0002350	Cerebellar cyst	27315	PGAP2	OMIM:614207
HP:0002350	Cerebellar cyst	157570	ESCO2	ORPHA:2319
HP:0002350	Cerebellar cyst	5340	PLG	ORPHA:722
HP:0002350	Cerebellar cyst	5340	PLG	OMIM:217090
HP:0002350	Cerebellar cyst	1717	DHCR7	OMIM:270400
HP:0002350	Cerebellar cyst	84314	TMEM107	ORPHA:564
HP:0002350	Cerebellar cyst	26123	TCTN3	ORPHA:564
HP:0002350	Cerebellar cyst	79867	TCTN2	ORPHA:564
HP:0002350	Cerebellar cyst	80776	B9D2	ORPHA:564
HP:0002350	Cerebellar cyst	80776	B9D2	OMIM:614175
HP:0002350	Cerebellar cyst	79600	TCTN1	ORPHA:564
HP:0002350	Cerebellar cyst	57096	RPGRIP1	ORPHA:564
HP:0002350	Cerebellar cyst	80184	CEP290	ORPHA:564
HP:0002350	Cerebellar cyst	80184	CEP290	OMIM:611134
HP:0002350	Cerebellar cyst	57545	CC2D2A	ORPHA:564
HP:0002350	Cerebellar cyst	79583	TMEM231	ORPHA:564
HP:0002350	Cerebellar cyst	79583	TMEM231	ORPHA:2752
HP:0002350	Cerebellar cyst	91147	TMEM67	ORPHA:564
HP:0002350	Cerebellar cyst	91147	TMEM67	OMIM:607361
HP:0002350	Cerebellar cyst	79770	TXNDC15	ORPHA:564
HP:0002350	Cerebellar cyst	27077	B9D1	ORPHA:564
HP:0002350	Cerebellar cyst	23322	RPGRIP1L	ORPHA:564
HP:0002350	Cerebellar cyst	54903	MKS1	ORPHA:564
HP:0002350	Cerebellar cyst	54903	MKS1	OMIM:249000
HP:0002350	Cerebellar cyst	27031	NPHP3	OMIM:267010
HP:0002350	Cerebellar cyst	27031	NPHP3	OMIM:208540
HP:0002350	Cerebellar cyst	27031	NPHP3	ORPHA:3032
HP:0002350	Cerebellar cyst	23258	DENND5A	OMIM:617281
HP:0002350	Cerebellar cyst	171023	ASXL1	ORPHA:97297
HP:0002350	Cerebellar cyst	171023	ASXL1	OMIM:605039
HP:0002350	Cerebellar cyst	9184	BUB3	ORPHA:1052
HP:0002350	Cerebellar cyst	699	BUB1	ORPHA:1052
HP:0002350	Cerebellar cyst	9702	CEP57	ORPHA:1052
HP:0002350	Cerebellar cyst	9319	TRIP13	ORPHA:1052
HP:0002350	Cerebellar cyst	701	BUB1B	ORPHA:1052
HP:0002350	Cerebellar cyst	701	BUB1B	OMIM:257300
HP:0002350	Cerebellar cyst	84188	FAR1	ORPHA:438178
HP:0002350	Cerebellar cyst	84188	FAR1	OMIM:616154
HP:0002350	Cerebellar cyst	2260	FGFR1	OMIM:613001
HP:0002350	Cerebellar cyst	124997	WDR81	OMIM:617967
HP:0002350	Cerebellar cyst	2683	B4GALT1	OMIM:607091
HP:0002350	Cerebellar cyst	2683	B4GALT1	ORPHA:79332
HP:0002350	Cerebellar cyst	26005	C2CD3	OMIM:615948
HP:0002350	Cerebellar cyst	26005	C2CD3	ORPHA:434179
HP:0002350	Cerebellar cyst	26227	PHGDH	OMIM:256520
HP:0002350	Cerebellar cyst	10804	GJB6	ORPHA:477
HP:0002350	Cerebellar cyst	2706	GJB2	ORPHA:477
HP:0002350	Cerebellar cyst	4927	NUP88	ORPHA:994
HP:0002350	Cerebellar cyst	7846	TUBA1A	ORPHA:994
HP:0002350	Cerebellar cyst	4654	MYOD1	ORPHA:994
HP:0002350	Cerebellar cyst	4593	MUSK	ORPHA:994
HP:0002350	Cerebellar cyst	5913	RAPSN	ORPHA:994
HP:0002350	Cerebellar cyst	6572	SLC18A3	ORPHA:994
HP:0002350	Cerebellar cyst	285489	DOK7	ORPHA:994
HP:0002350	Cerebellar cyst	7737	RNF113A	OMIM:300953
HP:0002350	Cerebellar cyst	56006	SMG9	OMIM:616920
HP:0002350	Cerebellar cyst	998	CDC42	ORPHA:487796
HP:0002350	Cerebellar cyst	51524	TMEM138	OMIM:614465
HP:0002350	Cerebellar cyst	8239	USP9X	ORPHA:480880
HP:0002350	Cerebellar cyst	8239	USP9X	OMIM:300968
HP:0002350	Cerebellar cyst	11128	POLR3A	OMIM:264090
HP:0002350	Cerebellar cyst	4534	MTM1	OMIM:310400
HP:0002350	Cerebellar cyst	526	ATP6V1B2	ORPHA:79500
HP:0002350	Cerebellar cyst	54880	BCOR	OMIM:300166
HP:0002350	Cerebellar cyst	203068	TUBB	OMIM:156610
HP:0002350	Cerebellar cyst	55640	FLVCR2	OMIM:225790
HP:0002350	Cerebellar cyst	28952	CCDC22	OMIM:300963
HP:0002350	Cerebellar cyst	28952	CCDC22	ORPHA:7
HP:0002350	Cerebellar cyst	80210	ARMC9	OMIM:617622
HP:0002350	Cerebellar cyst	5500	PPP1CB	OMIM:617506
HP:0002350	Cerebellar cyst	54676	GTPBP2	OMIM:617988
HP:0002350	Cerebellar cyst	5373	PMM2	ORPHA:79318
HP:0002350	Cerebellar cyst	63895	PIEZO2	OMIM:248700
HP:0002350	Cerebellar cyst	9897	WASHC5	OMIM:220210
HP:0002350	Cerebellar cyst	9897	WASHC5	ORPHA:7
HP:0002350	Cerebellar cyst	2239	GPC4	ORPHA:373
HP:0002350	Cerebellar cyst	2719	GPC3	ORPHA:373
HP:0002350	Cerebellar cyst	23007	PLCH1	OMIM:619895
HP:0002350	Cerebellar cyst	2121	EVC	OMIM:225500
HP:0002350	Cerebellar cyst	132884	EVC2	OMIM:225500
HP:0002350	Cerebellar cyst	153241	CEP120	OMIM:616300
HP:0002350	Cerebellar cyst	523	ATP6V1A	ORPHA:357074
HP:0002350	Cerebellar cyst	529	ATP6V1E1	ORPHA:357074
HP:0002350	Cerebellar cyst	3798	KIF5A	OMIM:617235
HP:0002350	Cerebellar cyst	1028	CDKN1C	OMIM:130650
HP:0002350	Cerebellar cyst	10984	KCNQ1OT1	OMIM:130650
HP:0002350	Cerebellar cyst	3481	IGF2	OMIM:130650
HP:0002350	Cerebellar cyst	3784	KCNQ1	OMIM:130650
HP:0002350	Cerebellar cyst	738	VPS51	OMIM:618606
HP:0002350	Cerebellar cyst	1376	CPT2	ORPHA:228305
HP:0002350	Cerebellar cyst	10195	ALG3	ORPHA:79321
HP:0002350	Cerebellar cyst	219844	HYLS1	OMIM:236680
HP:0002350	Cerebellar cyst	4281	MID1	ORPHA:2745
HP:0002350	Cerebellar cyst	8905	AP1S2	OMIM:304340
HP:0002350	Cerebellar cyst	29925	GMPPB	ORPHA:370959
HP:0002350	Cerebellar cyst	79147	FKRP	ORPHA:370959
HP:0002350	Cerebellar cyst	79147	FKRP	OMIM:606612
HP:0002350	Cerebellar cyst	79147	FKRP	OMIM:613153
HP:0002350	Cerebellar cyst	79147	FKRP	ORPHA:370980
HP:0002350	Cerebellar cyst	29954	POMT2	ORPHA:370959
HP:0002350	Cerebellar cyst	29954	POMT2	OMIM:613150
HP:0002350	Cerebellar cyst	84197	POMK	ORPHA:370959
HP:0002350	Cerebellar cyst	55624	POMGNT1	ORPHA:370959
HP:0002350	Cerebellar cyst	55624	POMGNT1	OMIM:613151
HP:0002350	Cerebellar cyst	55624	POMGNT1	OMIM:253280
HP:0002350	Cerebellar cyst	10585	POMT1	ORPHA:370959
HP:0002350	Cerebellar cyst	10585	POMT1	ORPHA:370980
HP:0002350	Cerebellar cyst	148789	B3GALNT2	OMIM:615181
HP:0002350	Cerebellar cyst	79659	DYNC2H1	OMIM:613091
HP:0002350	Cerebellar cyst	1281	COL3A1	OMIM:618343
HP:0002350	Cerebellar cyst	283989	TSEN54	ORPHA:2524
HP:0002350	Cerebellar cyst	116461	TSEN15	ORPHA:2524
HP:0002350	Cerebellar cyst	79042	TSEN34	ORPHA:2524
HP:0002350	Cerebellar cyst	80746	TSEN2	ORPHA:2524
HP:0002350	Cerebellar cyst	51091	SEPSECS	ORPHA:2524
HP:0002350	Cerebellar cyst	284217	LAMA1	OMIM:615960
HP:0002350	Cerebellar cyst	284217	LAMA1	ORPHA:370022
HP:0002350	Cerebellar cyst	8481	OFD1	OMIM:311200
HP:0002350	Cerebellar cyst	1605	DAG1	OMIM:616538
HP:0002350	Cerebellar cyst	1605	DAG1	ORPHA:370997
HP:0002350	Cerebellar cyst	11340	EXOSC8	ORPHA:2254
HP:0002350	Cerebellar cyst	5393	EXOSC9	ORPHA:2254
HP:0002350	Cerebellar cyst	23287	AGTPBP1	ORPHA:2254
HP:0002350	Cerebellar cyst	51010	EXOSC3	ORPHA:2254
HP:0002350	Cerebellar cyst	51010	EXOSC3	OMIM:614678
HP:0002350	Cerebellar cyst	7443	VRK1	ORPHA:2254
HP:0002350	Cerebellar cyst	91137	SLC25A46	ORPHA:2254
HP:0002350	Cerebellar cyst	2218	FKTN	ORPHA:370980
HP:0002350	Cerebellar cyst	2218	FKTN	OMIM:253800
HP:0002350	Cerebellar cyst	729920	CRPPA	ORPHA:370980
HP:0002350	Cerebellar cyst	9361	LONP1	ORPHA:79243
HP:0002350	Cerebellar cyst	5160	PDHA1	ORPHA:79243
HP:0002350	Cerebellar cyst	4983	OPHN1	OMIM:300486
HP:0002350	Cerebellar cyst	4983	OPHN1	ORPHA:137831
HP:0002350	Cerebellar cyst	5159	PDGFRB	OMIM:601812
HP:0002350	Cerebellar cyst	2892	GRIA3	ORPHA:364028
HP:0002350	Cerebellar cyst	160418	TMTC3	OMIM:617255
HP:0002350	Cerebellar cyst	27245	AHDC1	ORPHA:412069
HP:0002350	Cerebellar cyst	27245	AHDC1	OMIM:615829
HP:0002350	Cerebellar cyst	2911	GRM1	OMIM:614831
HP:0002350	Cerebellar cyst	57688	ZSWIM6	ORPHA:1827
HP:0002350	Cerebellar cyst	57688	ZSWIM6	OMIM:603671
HP:0002350	Cerebellar cyst	57572	DOCK6	OMIM:614219
HP:0002350	Cerebellar cyst	57231	SNX14	ORPHA:397709
HP:0007098	Paroxysmal choreoathetosis	112476	PRRT2	OMIM:128200
HP:0007098	Paroxysmal choreoathetosis	112476	PRRT2	OMIM:602066
HP:0007098	Paroxysmal choreoathetosis	25953	PNKD	OMIM:118800
HP:0002356	Writer's cramp	25792	CIZ1	ORPHA:420492
HP:0002356	Writer's cramp	2643	GCH1	OMIM:128230
HP:0002356	Writer's cramp	2512	FTL	OMIM:606159
HP:0002356	Writer's cramp	2512	FTL	ORPHA:157846
HP:0002356	Writer's cramp	64601	VPS16	OMIM:619291
HP:0002356	Writer's cramp	5354	PLP1	OMIM:312080
HP:0002356	Writer's cramp	3094	HINT1	ORPHA:324442
HP:0002356	Writer's cramp	3736	KCNA1	ORPHA:98809
HP:0002356	Writer's cramp	112476	PRRT2	ORPHA:98809
HP:0002356	Writer's cramp	2767	GNA11	ORPHA:428
HP:0002356	Writer's cramp	846	CASR	ORPHA:428
HP:0002356	Writer's cramp	1813	DRD2	ORPHA:36899
HP:0002356	Writer's cramp	8910	SGCE	ORPHA:36899
HP:0002356	Writer's cramp	8910	SGCE	OMIM:159900
HP:0002356	Writer's cramp	79734	KCTD17	ORPHA:36899
HP:0002356	Writer's cramp	1861	TOR1A	ORPHA:36899
HP:0002356	Writer's cramp	1861	TOR1A	OMIM:128100
HP:0002356	Writer's cramp	84909	AOPEP	OMIM:619565
HP:0002356	Writer's cramp	57465	TBC1D24	ORPHA:163727
HP:0002356	Writer's cramp	57465	TBC1D24	OMIM:608105
HP:0002356	Writer's cramp	55145	THAP1	OMIM:602629
HP:0002356	Writer's cramp	1293	COL6A3	OMIM:616411
HP:0002356	Writer's cramp	1293	COL6A3	ORPHA:464440
HP:0002356	Writer's cramp	3781	KCNN2	OMIM:619724
HP:0002356	Writer's cramp	6908	TBP	ORPHA:98759
HP:0002381	Aphasia	4558	MT-TF	ORPHA:550
HP:0002381	Aphasia	4572	MT-TQ	ORPHA:550
HP:0002381	Aphasia	4512	MT-CO1	ORPHA:550
HP:0002381	Aphasia	4513	MT-CO2	ORPHA:550
HP:0002381	Aphasia	4514	MT-CO3	ORPHA:550
HP:0002381	Aphasia	4578	MT-TW	ORPHA:550
HP:0002381	Aphasia	4540	MT-ND5	ORPHA:550
HP:0002381	Aphasia	4541	MT-ND6	ORPHA:550
HP:0002381	Aphasia	4535	MT-ND1	ORPHA:550
HP:0002381	Aphasia	4538	MT-ND4	ORPHA:550
HP:0002381	Aphasia	4567	MT-TL1	ORPHA:550
HP:0002381	Aphasia	4574	MT-TS1	ORPHA:550
HP:0002381	Aphasia	4575	MT-TS2	ORPHA:550
HP:0002381	Aphasia	4564	MT-TH	ORPHA:550
HP:0002381	Aphasia	10059	DNM1L	ORPHA:330050
HP:0002381	Aphasia	2903	GRIN2A	OMIM:245570
HP:0002381	Aphasia	2903	GRIN2A	ORPHA:725
HP:0002381	Aphasia	2903	GRIN2A	ORPHA:98818
HP:0002381	Aphasia	3747	KCNC2	OMIM:619913
HP:0002381	Aphasia	7415	VCP	OMIM:167320
HP:0002381	Aphasia	7415	VCP	ORPHA:52430
HP:0002381	Aphasia	7415	VCP	ORPHA:275864
HP:0002381	Aphasia	7415	VCP	ORPHA:100070
HP:0002381	Aphasia	79813	EHMT1	ORPHA:96147
HP:0002381	Aphasia	50814	NSDHL	ORPHA:251383
HP:0002381	Aphasia	51816	ADA2	ORPHA:820
HP:0002381	Aphasia	51816	ADA2	OMIM:615688
HP:0002381	Aphasia	6925	TCF4	ORPHA:2896
HP:0002381	Aphasia	7343	UBTF	ORPHA:500180
HP:0002381	Aphasia	84172	POLR1B	ORPHA:861
HP:0002381	Aphasia	9533	POLR1C	ORPHA:861
HP:0002381	Aphasia	51082	POLR1D	ORPHA:861
HP:0002381	Aphasia	6949	TCOF1	ORPHA:861
HP:0002381	Aphasia	6595	SMARCA2	ORPHA:3051
HP:0002381	Aphasia	50485	SMARCAL1	ORPHA:1830
HP:0002381	Aphasia	3897	L1CAM	OMIM:303350
HP:0002381	Aphasia	3897	L1CAM	ORPHA:2466
HP:0002381	Aphasia	150468	CKAP2L	ORPHA:3255
HP:0002381	Aphasia	4952	OCRL	ORPHA:534
HP:0002381	Aphasia	10743	RAI1	ORPHA:1713
HP:0002381	Aphasia	3178	HNRNPA1	ORPHA:52430
HP:0002381	Aphasia	3181	HNRNPA2B1	ORPHA:52430
HP:0002381	Aphasia	79944	L2HGDH	OMIM:236792
HP:0002381	Aphasia	79944	L2HGDH	ORPHA:79314
HP:0002381	Aphasia	5339	PLEC	ORPHA:257
HP:0002381	Aphasia	4854	NOTCH3	ORPHA:136
HP:0002381	Aphasia	4694	NDUFA1	OMIM:301020
HP:0002381	Aphasia	1540	CYLD	OMIM:619132
HP:0002381	Aphasia	7072	TIA1	OMIM:619133
HP:0002381	Aphasia	6331	SCN5A	ORPHA:1344
HP:0002381	Aphasia	4878	NPPA	ORPHA:1344
HP:0002381	Aphasia	201163	FLCN	OMIM:610883
HP:0002381	Aphasia	412	STS	ORPHA:281090
HP:0002381	Aphasia	2260	FGFR1	ORPHA:2396
HP:0002381	Aphasia	3845	KRAS	ORPHA:2396
HP:0002381	Aphasia	5664	PSEN2	ORPHA:1020
HP:0002381	Aphasia	10452	TOMM40	ORPHA:1020
HP:0002381	Aphasia	351	APP	ORPHA:1020
HP:0002381	Aphasia	10347	ABCA7	ORPHA:1020
HP:0002381	Aphasia	6653	SORL1	ORPHA:1020
HP:0002381	Aphasia	23732	FRRS1L	ORPHA:725
HP:0002381	Aphasia	546	ATRX	ORPHA:847
HP:0002381	Aphasia	9719	ADAMTSL2	ORPHA:1901
HP:0002381	Aphasia	9509	ADAMTS2	ORPHA:1901
HP:0002381	Aphasia	1312	COMT	ORPHA:567
HP:0002381	Aphasia	221037	JMJD1C	ORPHA:567
HP:0002381	Aphasia	2812	GP1BB	ORPHA:567
HP:0002381	Aphasia	6239	RREB1	ORPHA:567
HP:0002381	Aphasia	6899	TBX1	ORPHA:567
HP:0002381	Aphasia	7290	HIRA	ORPHA:567
HP:0002381	Aphasia	9632	SEC24C	ORPHA:567
HP:0002381	Aphasia	7353	UFD1	ORPHA:567
HP:0002381	Aphasia	421	ARVCF	ORPHA:567
HP:0002381	Aphasia	3119	HLA-DQB1	OMIM:123400
HP:0002381	Aphasia	5621	PRNP	OMIM:123400
HP:0002381	Aphasia	773	CACNA1A	ORPHA:569
HP:0002381	Aphasia	773	CACNA1A	OMIM:141500
HP:0002381	Aphasia	112476	PRRT2	ORPHA:569
HP:0002381	Aphasia	6323	SCN1A	ORPHA:569
HP:0002381	Aphasia	477	ATP1A2	ORPHA:569
HP:0002381	Aphasia	477	ATP1A2	OMIM:602481
HP:0002381	Aphasia	71	ACTG1	ORPHA:2995
HP:0002381	Aphasia	60	ACTB	ORPHA:2995
HP:0002381	Aphasia	54539	NDUFB11	ORPHA:2556
HP:0002381	Aphasia	1349	COX7B	ORPHA:2556
HP:0002381	Aphasia	3052	HCCS	ORPHA:2556
HP:0002381	Aphasia	5654	HTRA1	OMIM:600142
HP:0002381	Aphasia	5649	RELN	ORPHA:101046
HP:0002381	Aphasia	9211	LGI1	ORPHA:101046
HP:0002381	Aphasia	9681	DEPDC5	ORPHA:101046
HP:0002381	Aphasia	11277	TREX1	ORPHA:247691
HP:0002381	Aphasia	26040	SETBP1	OMIM:616078
HP:0002381	Aphasia	8878	SQSTM1	ORPHA:275864
HP:0002381	Aphasia	139285	AMER1	ORPHA:2780
HP:0002381	Aphasia	4771	NF2	ORPHA:637
HP:0002381	Aphasia	3075	CFH	OMIM:235400
HP:0002381	Aphasia	3078	CFHR1	OMIM:235400
HP:0002381	Aphasia	10878	CFHR3	OMIM:235400
HP:0002381	Aphasia	1278	COL1A2	ORPHA:1899
HP:0002381	Aphasia	1277	COL1A1	ORPHA:1899
HP:0002381	Aphasia	79152	FA2H	ORPHA:329308
HP:0002381	Aphasia	2705	GJB1	OMIM:302800
HP:0002381	Aphasia	8131	NPRL3	ORPHA:98820
HP:0002381	Aphasia	10641	NPRL2	ORPHA:98820
HP:0002381	Aphasia	25978	CHMP2B	ORPHA:100069
HP:0002381	Aphasia	5663	PSEN1	ORPHA:100069
HP:0002381	Aphasia	2896	GRN	ORPHA:100069
HP:0002381	Aphasia	54664	TMEM106B	ORPHA:100069
HP:0002381	Aphasia	4137	MAPT	ORPHA:100069
HP:0002381	Aphasia	4137	MAPT	ORPHA:240112
HP:0002381	Aphasia	54209	TREM2	ORPHA:100069
HP:0002381	Aphasia	5354	PLP1	ORPHA:280229
HP:0007359	Focal-onset seizure	50801	KCNK4	OMIM:618381
HP:0007359	Focal-onset seizure	8504	PEX3	OMIM:617370
HP:0007359	Focal-onset seizure	5649	RELN	OMIM:600512
HP:0007359	Focal-onset seizure	64780	MICAL1	OMIM:600512
HP:0007359	Focal-onset seizure	9211	LGI1	OMIM:600512
HP:0007359	Focal-onset seizure	3785	KCNQ2	ORPHA:1949
HP:0007359	Focal-onset seizure	3785	KCNQ2	ORPHA:306
HP:0007359	Focal-onset seizure	3785	KCNQ2	OMIM:121200
HP:0007359	Focal-onset seizure	3786	KCNQ3	ORPHA:1949
HP:0007359	Focal-onset seizure	3786	KCNQ3	ORPHA:306
HP:0007359	Focal-onset seizure	3786	KCNQ3	OMIM:121201
HP:0007359	Focal-onset seizure	23312	DMXL2	OMIM:618663
HP:0007359	Focal-onset seizure	132158	GLYCTK	OMIM:220120
HP:0007359	Focal-onset seizure	23241	PACS2	OMIM:618067
HP:0007359	Focal-onset seizure	6487	ST3GAL3	OMIM:615006
HP:0007359	Focal-onset seizure	51294	PCDH12	OMIM:251280
HP:0007359	Focal-onset seizure	53616	ADAM22	OMIM:617933
HP:0007359	Focal-onset seizure	55325	UFSP2	OMIM:620028
HP:0007359	Focal-onset seizure	23732	FRRS1L	ORPHA:725
HP:0007359	Focal-onset seizure	2903	GRIN2A	ORPHA:725
HP:0007359	Focal-onset seizure	6334	SCN8A	ORPHA:306
HP:0007359	Focal-onset seizure	6326	SCN2A	ORPHA:306
HP:0007359	Focal-onset seizure	112476	PRRT2	ORPHA:306
HP:0007359	Focal-onset seizure	9568	GABBR2	OMIM:617904
HP:0007359	Focal-onset seizure	6323	SCN1A	OMIM:607208
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:36387
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:33069
HP:0007359	Focal-onset seizure	10059	DNM1L	ORPHA:330050
HP:0007359	Focal-onset seizure	2775	GNAO1	OMIM:617493
HP:0007359	Focal-onset seizure	1173	AP2M1	OMIM:618587
HP:0007359	Focal-onset seizure	1183	CLCN4	OMIM:300114
HP:0007359	Focal-onset seizure	1183	CLCN4	ORPHA:485350
HP:0007359	Focal-onset seizure	23019	CNOT1	OMIM:618500
HP:0007359	Focal-onset seizure	55823	VPS11	OMIM:616683
HP:0007359	Focal-onset seizure	23135	KDM6B	OMIM:618505
HP:0007359	Focal-onset seizure	2904	GRIN2B	OMIM:613970
HP:0007359	Focal-onset seizure	92335	STRADA	ORPHA:500533
HP:0007359	Focal-onset seizure	6328	SCN3A	OMIM:617935
HP:0007359	Focal-onset seizure	8496	PPFIBP1	OMIM:620024
HP:0007359	Focal-onset seizure	23126	POGZ	ORPHA:468678
HP:0007359	Focal-onset seizure	23126	POGZ	OMIM:616364
HP:0007359	Focal-onset seizure	64324	NSD1	ORPHA:821
HP:0007359	Focal-onset seizure	29072	SETD2	ORPHA:821
HP:0007359	Focal-onset seizure	10297	APC2	ORPHA:821
HP:0007359	Focal-onset seizure	2258	FGF13	OMIM:301058
HP:0007359	Focal-onset seizure	57165	GJC2	OMIM:608804
HP:0007359	Focal-onset seizure	2593	GAMT	ORPHA:382
HP:0007359	Focal-onset seizure	387119	CEP85L	OMIM:618873
HP:0007359	Focal-onset seizure	112755	STX1B	OMIM:616172
HP:0007359	Focal-onset seizure	112755	STX1B	ORPHA:36387
HP:0007359	Focal-onset seizure	3745	KCNB1	OMIM:616056
HP:0007359	Focal-onset seizure	2782	GNB1	ORPHA:488613
HP:0007359	Focal-onset seizure	2782	GNB1	OMIM:616973
HP:0007359	Focal-onset seizure	478	ATP1A3	OMIM:619606
HP:0007359	Focal-onset seizure	6900	CNTN2	OMIM:615400
HP:0007359	Focal-onset seizure	4041	LRP5	OMIM:259770
HP:0007359	Focal-onset seizure	51083	GAL	OMIM:616461
HP:0007359	Focal-onset seizure	535	ATP6V0A1	OMIM:619970
HP:0007359	Focal-onset seizure	816	CAMK2B	OMIM:617799
HP:0007359	Focal-onset seizure	23229	ARHGEF9	ORPHA:163985
HP:0007359	Focal-onset seizure	23229	ARHGEF9	OMIM:300607
HP:0007359	Focal-onset seizure	116150	NUS1	OMIM:617831
HP:0007359	Focal-onset seizure	1759	DNM1	OMIM:616346
HP:0007359	Focal-onset seizure	3064	HTT	OMIM:617435
HP:0007359	Focal-onset seizure	267010	RNU12	OMIM:620208
HP:0007359	Focal-onset seizure	2770	GNAI1	OMIM:619854
HP:0007359	Focal-onset seizure	2055	CLN8	OMIM:610003
HP:0007359	Focal-onset seizure	2055	CLN8	ORPHA:1947
HP:0007359	Focal-onset seizure	1000	CDH2	OMIM:618929
HP:0007359	Focal-onset seizure	128989	TANGO2	ORPHA:480864
HP:0007359	Focal-onset seizure	8131	NPRL3	ORPHA:98820
HP:0007359	Focal-onset seizure	10641	NPRL2	ORPHA:98820
HP:0007359	Focal-onset seizure	9681	DEPDC5	ORPHA:98820
HP:0007359	Focal-onset seizure	2898	GRIK2	OMIM:619580
HP:0007359	Focal-onset seizure	56776	FMN2	OMIM:616193
HP:0007359	Focal-onset seizure	283987	HID1	OMIM:619983
HP:0007359	Focal-onset seizure	776	CACNA1D	ORPHA:369929
HP:0007359	Focal-onset seizure	56479	KCNQ5	OMIM:617601
HP:0007359	Focal-onset seizure	23152	CIC	OMIM:617600
HP:0007359	Focal-onset seizure	2783	GNB2	OMIM:619503
HP:0007359	Focal-onset seizure	9419	CRIPT	OMIM:615789
HP:0007359	Focal-onset seizure	6335	SCN9A	ORPHA:36387
HP:0007359	Focal-onset seizure	6335	SCN9A	ORPHA:33069
HP:0007359	Focal-onset seizure	2563	GABRD	ORPHA:36387
HP:0007359	Focal-onset seizure	6324	SCN1B	ORPHA:36387
HP:0007359	Focal-onset seizure	6324	SCN1B	ORPHA:33069
HP:0007359	Focal-onset seizure	348980	HCN1	ORPHA:36387
HP:0007359	Focal-onset seizure	84059	ADGRV1	ORPHA:36387
HP:0007359	Focal-onset seizure	2566	GABRG2	ORPHA:36387
HP:0007359	Focal-onset seizure	2566	GABRG2	ORPHA:33069
HP:0007359	Focal-onset seizure	2566	GABRG2	OMIM:618396
HP:0007359	Focal-onset seizure	2261	FGFR3	OMIM:616482
HP:0007359	Focal-onset seizure	3747	KCNC2	OMIM:619913
HP:0007359	Focal-onset seizure	23040	MYT1L	OMIM:616521
HP:0007359	Focal-onset seizure	4983	OPHN1	ORPHA:137831
HP:0007359	Focal-onset seizure	85440	DOCK7	ORPHA:411986
HP:0007359	Focal-onset seizure	85440	DOCK7	OMIM:615859
HP:0007359	Focal-onset seizure	2554	GABRA1	ORPHA:33069
HP:0007359	Focal-onset seizure	2554	GABRA1	OMIM:615744
HP:0007359	Focal-onset seizure	57526	PCDH19	ORPHA:33069
HP:0007359	Focal-onset seizure	378884	NHLRC1	ORPHA:501
HP:0007359	Focal-onset seizure	7957	EPM2A	ORPHA:501
HP:0007359	Focal-onset seizure	526	ATP6V1B2	ORPHA:79500
HP:0007359	Focal-onset seizure	57465	TBC1D24	ORPHA:79500
HP:0007359	Focal-onset seizure	11198	SUPT16H	OMIM:619480
HP:0007359	Focal-onset seizure	25814	ATXN10	ORPHA:98761
HP:0007359	Focal-onset seizure	5138	PDE2A	ORPHA:31709
HP:0007359	Focal-onset seizure	57169	ZNFX1	OMIM:619644
HP:0007359	Focal-onset seizure	9896	FIG4	OMIM:612691
HP:0007359	Focal-onset seizure	9896	FIG4	ORPHA:208441
HP:0007359	Focal-onset seizure	773	CACNA1A	OMIM:617106
HP:0007359	Focal-onset seizure	163175	LGI4	OMIM:617468
HP:0007359	Focal-onset seizure	3708	ITPR1	OMIM:117360
HP:0007359	Focal-onset seizure	23031	MAST3	OMIM:620115
HP:0007359	Focal-onset seizure	2556	GABRA3	OMIM:301091
HP:0007359	Focal-onset seizure	57020	VPS35L	OMIM:619135
HP:0007359	Focal-onset seizure	26047	CNTNAP2	OMIM:610042
HP:0007359	Focal-onset seizure	23499	MACF1	OMIM:618325
HP:0007359	Focal-onset seizure	5048	PAFAH1B1	ORPHA:95232
HP:0007359	Focal-onset seizure	7248	TSC1	OMIM:607341
HP:0007359	Focal-onset seizure	7249	TSC2	OMIM:607341
HP:0007359	Focal-onset seizure	2475	MTOR	OMIM:607341
HP:0007359	Focal-onset seizure	197322	ACSF3	ORPHA:289504
HP:0007359	Focal-onset seizure	7040	TGFB1	OMIM:618213
HP:0007359	Focal-onset seizure	2902	GRIN1	OMIM:614254
HP:0007359	Focal-onset seizure	221927	BRAT1	OMIM:618056
HP:0007359	Focal-onset seizure	81603	TRIM8	OMIM:619428
HP:0007359	Focal-onset seizure	10695	CNPY3	OMIM:617929
HP:0007359	Focal-onset seizure	57094	CPA6	OMIM:614417
HP:0007359	Focal-onset seizure	57094	CPA6	OMIM:614418
HP:0007359	Focal-onset seizure	50640	PNPLA8	OMIM:251950
HP:0007359	Focal-onset seizure	8085	KMT2D	OMIM:147920
HP:0007359	Focal-onset seizure	7403	KDM6A	OMIM:147920
HP:0007359	Focal-onset seizure	7187	TRAF3	ORPHA:1930
HP:0007359	Focal-onset seizure	81622	UNC93B1	ORPHA:1930
HP:0007359	Focal-onset seizure	148022	TICAM1	ORPHA:1930
HP:0007359	Focal-onset seizure	7098	TLR3	ORPHA:1930
HP:0007359	Focal-onset seizure	29110	TBK1	ORPHA:1930
HP:0007359	Focal-onset seizure	284058	KANSL1	ORPHA:363965
HP:0007359	Focal-onset seizure	284058	KANSL1	ORPHA:363958
HP:0007359	Focal-onset seizure	23316	CUX2	OMIM:618141
HP:0007359	Focal-onset seizure	57468	SLC12A5	OMIM:616645
HP:0007359	Focal-onset seizure	50485	SMARCAL1	ORPHA:1830
HP:0007359	Focal-onset seizure	51343	FZR1	OMIM:620145
HP:0007359	Focal-onset seizure	6584	SLC22A5	ORPHA:158
HP:0007359	Focal-onset seizure	57107	PDSS2	ORPHA:255249
HP:0007359	Focal-onset seizure	57107	PDSS2	OMIM:614652
HP:0007359	Focal-onset seizure	27235	COQ2	ORPHA:255249
HP:0007359	Focal-onset seizure	123263	MTFMT	OMIM:614947
HP:0007359	Focal-onset seizure	83480	PUS3	ORPHA:488627
HP:0007359	Focal-onset seizure	51124	IER3IP1	OMIM:614231
HP:0007359	Focal-onset seizure	10991	SLC38A3	OMIM:619881
HP:0007359	Focal-onset seizure	3778	KCNMA1	OMIM:617643
HP:0007359	Focal-onset seizure	3767	KCNJ11	OMIM:618856
HP:0007359	Focal-onset seizure	5660	PSAP	OMIM:610539
HP:0007359	Focal-onset seizure	1203	CLN5	ORPHA:228360
HP:0007359	Focal-onset seizure	4558	MT-TF	ORPHA:550
HP:0007359	Focal-onset seizure	4572	MT-TQ	ORPHA:550
HP:0007359	Focal-onset seizure	4512	MT-CO1	ORPHA:550
HP:0007359	Focal-onset seizure	4513	MT-CO2	ORPHA:550
HP:0007359	Focal-onset seizure	4514	MT-CO3	ORPHA:550
HP:0007359	Focal-onset seizure	4578	MT-TW	ORPHA:550
HP:0007359	Focal-onset seizure	4540	MT-ND5	ORPHA:550
HP:0007359	Focal-onset seizure	4541	MT-ND6	ORPHA:550
HP:0007359	Focal-onset seizure	4535	MT-ND1	ORPHA:550
HP:0007359	Focal-onset seizure	4538	MT-ND4	ORPHA:550
HP:0007359	Focal-onset seizure	4567	MT-TL1	ORPHA:550
HP:0007359	Focal-onset seizure	4574	MT-TS1	ORPHA:550
HP:0007359	Focal-onset seizure	4575	MT-TS2	ORPHA:550
HP:0007359	Focal-onset seizure	4564	MT-TH	ORPHA:550
HP:0007359	Focal-onset seizure	4524	MTHFR	ORPHA:395
HP:0007359	Focal-onset seizure	26960	NBEA	OMIM:619157
HP:0007359	Focal-onset seizure	8367	H4C5	OMIM:619950
HP:0007359	Focal-onset seizure	56896	DPYSL5	OMIM:619435
HP:0007359	Focal-onset seizure	23334	SZT2	OMIM:615476
HP:0007359	Focal-onset seizure	775	CACNA1C	OMIM:620029
HP:0007359	Focal-onset seizure	55733	HHAT	OMIM:600092
HP:0007359	Focal-onset seizure	23600	AMACR	OMIM:614307
HP:0007359	Focal-onset seizure	22845	DOLK	ORPHA:91131
HP:0007359	Focal-onset seizure	170302	ARX	OMIM:308350
HP:0007359	Focal-onset seizure	170302	ARX	ORPHA:1934
HP:0007359	Focal-onset seizure	57176	VARS2	OMIM:615917
HP:0007359	Focal-onset seizure	5515	PPP2CA	OMIM:618354
HP:0007359	Focal-onset seizure	1436	CSF1R	OMIM:618476
HP:0007359	Focal-onset seizure	27286	SRPX2	OMIM:300643
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:163721
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:98889
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:1945
HP:0007359	Focal-onset seizure	8722	CTSF	OMIM:615362
HP:0007359	Focal-onset seizure	5917	RARS1	ORPHA:438114
HP:0007359	Focal-onset seizure	477	ATP1A2	OMIM:619605
HP:0007359	Focal-onset seizure	54982	CLN6	OMIM:204300
HP:0007359	Focal-onset seizure	50	ACO2	OMIM:614559
HP:0007359	Focal-onset seizure	2891	GRIA2	OMIM:618917
HP:0007359	Focal-onset seizure	3908	LAMA2	ORPHA:258
HP:0007359	Focal-onset seizure	4131	MAP1B	OMIM:618918
HP:0007359	Focal-onset seizure	4131	MAP1B	ORPHA:98892
HP:0007359	Focal-onset seizure	112939	NACC1	OMIM:617393
HP:0007359	Focal-onset seizure	347733	TUBB2B	ORPHA:300573
HP:0007359	Focal-onset seizure	79641	ROGDI	OMIM:226750
HP:0007359	Focal-onset seizure	3899	AFF3	OMIM:619297
HP:0007359	Focal-onset seizure	54496	PRMT7	OMIM:617157
HP:0007359	Focal-onset seizure	6844	VAMP2	OMIM:618760
HP:0007359	Focal-onset seizure	79029	AFG2B	OMIM:619616
HP:0007359	Focal-onset seizure	1778	DYNC1H1	OMIM:614563
HP:0007359	Focal-onset seizure	10381	TUBB3	ORPHA:300570
HP:0007359	Focal-onset seizure	340665	CYP26C1	ORPHA:398189
HP:0007359	Focal-onset seizure	1201	CLN3	ORPHA:228346
HP:0007359	Focal-onset seizure	9570	GOSR2	OMIM:620166
HP:0007359	Focal-onset seizure	5428	POLG	ORPHA:726
HP:0007359	Focal-onset seizure	9839	ZEB2	ORPHA:261552
HP:0007359	Focal-onset seizure	9839	ZEB2	ORPHA:261537
HP:0007359	Focal-onset seizure	22872	SEC31A	OMIM:618651
HP:0007359	Focal-onset seizure	2562	GABRB3	ORPHA:2382
HP:0007359	Focal-onset seizure	5602	MAPK10	ORPHA:2382
HP:0007359	Focal-onset seizure	1106	CHD2	ORPHA:2382
HP:0007359	Focal-onset seizure	1106	CHD2	ORPHA:1942
HP:0007359	Focal-onset seizure	79152	FA2H	ORPHA:329308
HP:0007359	Focal-onset seizure	8789	FBP2	OMIM:619864
HP:0007359	Focal-onset seizure	5442	POLRMT	OMIM:619743
HP:0007359	Focal-onset seizure	5833	PCYT2	OMIM:618770
HP:0007359	Focal-onset seizure	523	ATP6V1A	OMIM:618012
HP:0007359	Focal-onset seizure	2257	FGF12	OMIM:617166
HP:0007359	Focal-onset seizure	1641	DCX	ORPHA:2148
HP:0007359	Focal-onset seizure	124512	METTL23	OMIM:615942
HP:0007359	Focal-onset seizure	6304	SATB1	OMIM:619229
HP:0007359	Focal-onset seizure	4763	NF1	ORPHA:97685
HP:0007359	Focal-onset seizure	23265	EXOC7	OMIM:619072
HP:0007359	Focal-onset seizure	375	ARF1	ORPHA:98892
HP:0007359	Focal-onset seizure	2316	FLNA	ORPHA:98892
HP:0007359	Focal-onset seizure	23327	NEDD4L	ORPHA:98892
HP:0007359	Focal-onset seizure	160418	TMTC3	ORPHA:98892
HP:0007359	Focal-onset seizure	10564	ARFGEF2	ORPHA:98892
HP:0007359	Focal-onset seizure	55780	ERMARD	ORPHA:98892
HP:0007359	Focal-onset seizure	11154	AP4S1	OMIM:614067
HP:0007359	Focal-onset seizure	6711	SPTBN1	OMIM:619475
HP:0007359	Focal-onset seizure	1182	CLCN3	OMIM:619517
HP:0007359	Focal-onset seizure	8314	BAP1	ORPHA:2495
HP:0007359	Focal-onset seizure	4771	NF2	ORPHA:2495
HP:0007359	Focal-onset seizure	6598	SMARCB1	ORPHA:2495
HP:0007359	Focal-onset seizure	5155	PDGFB	ORPHA:2495
HP:0007359	Focal-onset seizure	84231	TRAF7	ORPHA:2495
HP:0007359	Focal-onset seizure	6608	SMO	ORPHA:2495
HP:0007359	Focal-onset seizure	207	AKT1	ORPHA:2495
HP:0007359	Focal-onset seizure	5290	PIK3CA	ORPHA:2495
HP:0007359	Focal-onset seizure	7015	TERT	ORPHA:2495
HP:0007359	Focal-onset seizure	51684	SUFU	ORPHA:2495
HP:0007359	Focal-onset seizure	6605	SMARCE1	ORPHA:2495
HP:0007359	Focal-onset seizure	4191	MDH2	OMIM:617339
HP:0007359	Focal-onset seizure	1282	COL4A1	OMIM:175780
HP:0007359	Focal-onset seizure	9289	ADGRG1	ORPHA:98889
HP:0007359	Focal-onset seizure	5297	PI4KA	ORPHA:98889
HP:0007359	Focal-onset seizure	6134	RPL10	ORPHA:459070
HP:0007359	Focal-onset seizure	11128	POLR3A	ORPHA:447896
HP:0007359	Focal-onset seizure	151	ADRA2B	ORPHA:86814
HP:0007359	Focal-onset seizure	55689	YEATS2	ORPHA:86814
HP:0007359	Focal-onset seizure	1501	CTNND2	ORPHA:86814
HP:0007359	Focal-onset seizure	10299	MARCHF6	ORPHA:86814
HP:0007359	Focal-onset seizure	10299	MARCHF6	OMIM:613608
HP:0007359	Focal-onset seizure	401474	SAMD12	ORPHA:86814
HP:0007359	Focal-onset seizure	79143	MBOAT7	OMIM:617188
HP:0007359	Focal-onset seizure	539	ATP5PO	OMIM:620359
HP:0007359	Focal-onset seizure	9772	TMEM94	OMIM:618316
HP:0007359	Focal-onset seizure	7846	TUBA1A	ORPHA:171680
HP:0007359	Focal-onset seizure	6853	SYN1	OMIM:300491
HP:0007359	Focal-onset seizure	4677	NARS1	OMIM:619091
HP:0007359	Focal-onset seizure	4677	NARS1	OMIM:619092
HP:0007359	Focal-onset seizure	23154	NCDN	OMIM:619373
HP:0007359	Focal-onset seizure	284098	PIGW	OMIM:616025
HP:0007359	Focal-onset seizure	1284	COL4A2	OMIM:614483
HP:0007359	Focal-onset seizure	1315	COPB1	OMIM:619255
HP:0007359	Focal-onset seizure	23219	FBXO28	OMIM:619777
HP:0007359	Focal-onset seizure	3458	IFNG	ORPHA:805
HP:0007359	Focal-onset seizure	10815	CPLX1	ORPHA:352582
HP:0007359	Focal-onset seizure	6513	SLC2A1	ORPHA:1942
HP:0007359	Focal-onset seizure	8831	SYNGAP1	ORPHA:1942
HP:0007359	Focal-onset seizure	340533	NEXMIF	ORPHA:1942
HP:0007359	Focal-onset seizure	6529	SLC6A1	ORPHA:1942
HP:0007359	Focal-onset seizure	2801	GOLGA2	OMIM:620240
HP:0007359	Focal-onset seizure	27247	NFU1	OMIM:605711
HP:0007359	Focal-onset seizure	51645	PPIL1	OMIM:619301
HP:0007359	Focal-onset seizure	1468	SLC25A10	OMIM:618972
HP:0007359	Focal-onset seizure	51362	CDC40	OMIM:619302
HP:0007359	Focal-onset seizure	7407	VARS1	OMIM:617802
HP:0007359	Focal-onset seizure	23236	PLCB1	OMIM:613722
HP:0007359	Focal-onset seizure	3736	KCNA1	ORPHA:1934
HP:0007359	Focal-onset seizure	8573	CASK	ORPHA:1934
HP:0007359	Focal-onset seizure	2917	GRM7	ORPHA:1934
HP:0007359	Focal-onset seizure	11284	PNKP	ORPHA:1934
HP:0007359	Focal-onset seizure	51227	PIGP	ORPHA:1934
HP:0007359	Focal-onset seizure	4761	NEUROD2	ORPHA:1934
HP:0007359	Focal-onset seizure	1188	CLCNKB	ORPHA:358
HP:0007359	Focal-onset seizure	6559	SLC12A3	ORPHA:358
HP:0007359	Focal-onset seizure	2737	GLI3	ORPHA:672
HP:0007359	Focal-onset seizure	55690	PACS1	ORPHA:329224
HP:0007359	Focal-onset seizure	26227	PHGDH	ORPHA:79351
HP:0007359	Focal-onset seizure	10588	MTHFS	OMIM:618367
HP:0007359	Focal-onset seizure	1798	DPAGT1	ORPHA:86309
HP:0007359	Focal-onset seizure	6611	SMS	ORPHA:3063
HP:0007359	Focal-onset seizure	5530	PPP3CA	OMIM:617711
HP:0007359	Focal-onset seizure	23443	SLC35A3	OMIM:615553
HP:0007359	Focal-onset seizure	727676	SNORD118	ORPHA:542310
HP:0007359	Focal-onset seizure	84188	FAR1	OMIM:619338
HP:0007359	Focal-onset seizure	4929	NR4A2	OMIM:619911
HP:0007359	Focal-onset seizure	6507	SLC1A3	ORPHA:2131
HP:0007359	Focal-onset seizure	686	BTD	ORPHA:79241
HP:0007359	Focal-onset seizure	4695	NDUFA2	OMIM:618235
HP:0007359	Focal-onset seizure	25930	PTPN23	OMIM:618890
HP:0007359	Focal-onset seizure	1806	DPYD	ORPHA:1675
HP:0007359	Focal-onset seizure	7532	YWHAG	OMIM:617665
HP:0007359	Focal-onset seizure	137682	NDUFAF6	OMIM:618239
HP:0007359	Focal-onset seizure	11277	TREX1	ORPHA:247691
HP:0007359	Focal-onset seizure	154881	KCTD7	ORPHA:263516
HP:0007359	Focal-onset seizure	2137	EXTL3	ORPHA:508533
HP:0007359	Focal-onset seizure	57531	HACE1	ORPHA:464282
HP:0007359	Focal-onset seizure	8943	AP3D1	OMIM:617050
HP:0007359	Focal-onset seizure	6389	SDHA	ORPHA:3208
HP:0007359	Focal-onset seizure	6390	SDHB	ORPHA:3208
HP:0007359	Focal-onset seizure	6392	SDHD	ORPHA:3208
HP:0007359	Focal-onset seizure	644096	SDHAF1	ORPHA:3208
HP:0007359	Focal-onset seizure	29920	PYCR2	ORPHA:481152
HP:0007359	Focal-onset seizure	5457	POU4F1	ORPHA:314647
HP:0007359	Focal-onset seizure	23261	CAMTA1	ORPHA:314647
HP:0007359	Focal-onset seizure	2892	GRIA3	OMIM:300699
HP:0007359	Focal-onset seizure	6506	SLC1A2	OMIM:617105
HP:0007359	Focal-onset seizure	2019	EN1	OMIM:619218
HP:0007359	Focal-onset seizure	56270	WDR45B	OMIM:617977
HP:0007359	Focal-onset seizure	10000	AKT3	ORPHA:99802
HP:0007359	Focal-onset seizure	55768	NGLY1	ORPHA:404454
HP:0007359	Focal-onset seizure	5813	PURA	ORPHA:314655
HP:0007359	Focal-onset seizure	79751	SLC25A22	ORPHA:1935
HP:0007359	Focal-onset seizure	150094	SIK1	ORPHA:1935
HP:0007359	Focal-onset seizure	79583	TMEM231	ORPHA:2752
HP:0007359	Focal-onset seizure	1137	CHRNA4	ORPHA:98784
HP:0007359	Focal-onset seizure	1135	CHRNA2	ORPHA:98784
HP:0007359	Focal-onset seizure	57010	CABP4	ORPHA:98784
HP:0007359	Focal-onset seizure	1141	CHRNB2	ORPHA:98784
HP:0007359	Focal-onset seizure	57582	KCNT1	ORPHA:98784
HP:0007359	Focal-onset seizure	1392	CRH	ORPHA:98784
HP:0007359	Focal-onset seizure	501	ALDH7A1	ORPHA:3006
HP:0007359	Focal-onset seizure	11212	PLPBP	ORPHA:3006
HP:0007359	Focal-onset seizure	54936	ADPRS	OMIM:618170
HP:0007359	Focal-onset seizure	6792	CDKL5	OMIM:300672
HP:0007359	Focal-onset seizure	8243	SMC1A	OMIM:301044
HP:0007359	Focal-onset seizure	7030	TFE3	OMIM:301066
HP:0007359	Focal-onset seizure	64801	ARV1	OMIM:617020
HP:0007359	Focal-onset seizure	2590	GALNT2	OMIM:618885
HP:0007359	Focal-onset seizure	79587	CARS2	ORPHA:477774
HP:0007359	Focal-onset seizure	5528	PPP2R5D	OMIM:616355
HP:0007359	Focal-onset seizure	94005	PIGS	OMIM:618143
HP:0007359	Focal-onset seizure	10352	WARS2	OMIM:617710
HP:0007359	Focal-onset seizure	10352	WARS2	ORPHA:572798
HP:0007359	Focal-onset seizure	93627	TBCK	ORPHA:488632
HP:0007359	Focal-onset seizure	25977	NECAP1	OMIM:615833
HP:0007359	Focal-onset seizure	9091	PIGQ	OMIM:618548
HP:0007359	Focal-onset seizure	284111	SLC13A5	OMIM:615905
HP:0007359	Focal-onset seizure	2558	GABRA5	OMIM:618559
HP:0007359	Focal-onset seizure	781	CACNA2D1	OMIM:620149
HP:0007359	Focal-onset seizure	10319	LAMC3	OMIM:614115
HP:0002359	Frequent falls	291	SLC25A4	ORPHA:254892
HP:0002359	Frequent falls	5428	POLG	ORPHA:254892
HP:0002359	Frequent falls	5428	POLG	OMIM:607459
HP:0002359	Frequent falls	56652	TWNK	ORPHA:254892
HP:0002359	Frequent falls	56652	TWNK	OMIM:607459
HP:0002359	Frequent falls	11232	POLG2	ORPHA:254892
HP:0002359	Frequent falls	50484	RRM2B	ORPHA:254892
HP:0002359	Frequent falls	10749	KIF1C	ORPHA:397946
HP:0002359	Frequent falls	10749	KIF1C	OMIM:611302
HP:0002359	Frequent falls	51062	ATL1	ORPHA:100984
HP:0002359	Frequent falls	773	CACNA1A	OMIM:183086
HP:0002359	Frequent falls	6134	RPL10	OMIM:300998
HP:0002359	Frequent falls	7080	NKX2-1	OMIM:118700
HP:0002359	Frequent falls	3094	HINT1	ORPHA:324442
HP:0002359	Frequent falls	79912	PYROXD1	OMIM:617258
HP:0002359	Frequent falls	4747	NEFL	OMIM:607684
HP:0002359	Frequent falls	4703	NEB	OMIM:256030
HP:0002359	Frequent falls	10159	ATP6AP2	ORPHA:93952
HP:0002359	Frequent falls	1303	COL12A1	ORPHA:75840
HP:0002359	Frequent falls	1291	COL6A1	ORPHA:75840
HP:0002359	Frequent falls	1292	COL6A2	ORPHA:75840
HP:0002359	Frequent falls	1293	COL6A3	ORPHA:75840
HP:0002359	Frequent falls	5339	PLEC	ORPHA:254361
HP:0002359	Frequent falls	2581	GALC	ORPHA:206443
HP:0002359	Frequent falls	2581	GALC	ORPHA:206448
HP:0002359	Frequent falls	10397	NDRG1	OMIM:601455
HP:0002359	Frequent falls	55187	VPS13D	OMIM:607317
HP:0002359	Frequent falls	6576	SLC25A1	OMIM:618197
HP:0002359	Frequent falls	318	NUDT2	OMIM:619844
HP:0002359	Frequent falls	5189	PEX1	OMIM:214100
HP:0002359	Frequent falls	79147	FKRP	OMIM:607155
HP:0002359	Frequent falls	79147	FKRP	OMIM:606612
HP:0002359	Frequent falls	79147	FKRP	ORPHA:34515
HP:0002359	Frequent falls	79147	FKRP	ORPHA:370980
HP:0002359	Frequent falls	29925	GMPPB	ORPHA:353327
HP:0002359	Frequent falls	2673	GFPT1	ORPHA:353327
HP:0002359	Frequent falls	1798	DPAGT1	ORPHA:353327
HP:0002359	Frequent falls	85365	ALG2	ORPHA:353327
HP:0002359	Frequent falls	199857	ALG14	ORPHA:353327
HP:0002359	Frequent falls	199857	ALG14	OMIM:616227
HP:0002359	Frequent falls	427	ASAH1	OMIM:159950
HP:0002359	Frequent falls	427	ASAH1	ORPHA:2590
HP:0002359	Frequent falls	410	ARSA	ORPHA:309271
HP:0002359	Frequent falls	410	ARSA	ORPHA:309263
HP:0002359	Frequent falls	410	ARSA	ORPHA:309256
HP:0002359	Frequent falls	5660	PSAP	ORPHA:309271
HP:0002359	Frequent falls	5660	PSAP	ORPHA:309263
HP:0002359	Frequent falls	5660	PSAP	ORPHA:309256
HP:0002359	Frequent falls	4694	NDUFA1	OMIM:301020
HP:0002359	Frequent falls	116228	COX20	OMIM:619054
HP:0002359	Frequent falls	84665	MYPN	ORPHA:171881
HP:0002359	Frequent falls	7169	TPM2	ORPHA:171881
HP:0002359	Frequent falls	7170	TPM3	ORPHA:171881
HP:0002359	Frequent falls	267010	RNU12	OMIM:620208
HP:0002359	Frequent falls	267010	RNU12	ORPHA:512260
HP:0002359	Frequent falls	64856	VWA1	OMIM:619216
HP:0002359	Frequent falls	54834	GDAP2	OMIM:618369
HP:0002359	Frequent falls	2629	GBA1	ORPHA:411602
HP:0002359	Frequent falls	23317	DNAJC13	ORPHA:411602
HP:0002359	Frequent falls	1981	EIF4G1	ORPHA:411602
HP:0002359	Frequent falls	55737	VPS35	ORPHA:411602
HP:0002359	Frequent falls	120892	LRRK2	ORPHA:411602
HP:0002359	Frequent falls	26058	GIGYF2	ORPHA:411602
HP:0002359	Frequent falls	6622	SNCA	ORPHA:411602
HP:0002359	Frequent falls	9570	GOSR2	OMIM:620166
HP:0002359	Frequent falls	54332	GDAP1	ORPHA:101097
HP:0002359	Frequent falls	54332	GDAP1	ORPHA:99948
HP:0002359	Frequent falls	4361	MRE11	OMIM:604391
HP:0002359	Frequent falls	4361	MRE11	ORPHA:251347
HP:0002359	Frequent falls	55149	MTPAP	ORPHA:254343
HP:0002359	Frequent falls	5297	PI4KA	OMIM:619621
HP:0002359	Frequent falls	55703	POLR3B	OMIM:619742
HP:0002359	Frequent falls	2705	GJB1	OMIM:302800
HP:0002359	Frequent falls	2705	GJB1	ORPHA:1175
HP:0002359	Frequent falls	1600	DAB1	OMIM:615945
HP:0002359	Frequent falls	2218	FKTN	OMIM:611588
HP:0002359	Frequent falls	2218	FKTN	ORPHA:370980
HP:0002359	Frequent falls	2903	GRIN2A	ORPHA:98818
HP:0002359	Frequent falls	284439	SLC25A42	OMIM:618416
HP:0002359	Frequent falls	4137	MAPT	ORPHA:240103
HP:0002359	Frequent falls	729920	CRPPA	ORPHA:370980
HP:0002359	Frequent falls	10585	POMT1	ORPHA:370980
HP:0002359	Frequent falls	9896	FIG4	OMIM:611228
HP:0002359	Frequent falls	27235	COQ2	ORPHA:98933
HP:0002359	Frequent falls	27235	COQ2	ORPHA:227510
HP:0002359	Frequent falls	492	ATP2B3	ORPHA:314978
HP:0002359	Frequent falls	5376	PMP22	ORPHA:3115
HP:0002359	Frequent falls	4359	MPZ	ORPHA:3115
HP:0002359	Frequent falls	6445	SGCG	ORPHA:353
HP:0002359	Frequent falls	7273	TTN	OMIM:603689
HP:0002359	Frequent falls	2911	GRM1	OMIM:617691
HP:0002359	Frequent falls	56006	SMG9	OMIM:619995
HP:0002359	Frequent falls	10367	MICU1	OMIM:615673
HP:0002359	Frequent falls	10846	PDE10A	ORPHA:494526
HP:0002359	Frequent falls	10846	PDE10A	OMIM:616921
HP:0002359	Frequent falls	26580	BSCL2	OMIM:619112
HP:0002359	Frequent falls	7415	VCP	ORPHA:435387
HP:0002359	Frequent falls	7415	VCP	ORPHA:329478
HP:0002359	Frequent falls	55280	CWF19L1	OMIM:616127
HP:0002359	Frequent falls	55280	CWF19L1	ORPHA:453521
HP:0002359	Frequent falls	4744	NEFH	OMIM:616924
HP:0002359	Frequent falls	1778	DYNC1H1	OMIM:614228
HP:0002359	Frequent falls	3032	HADHB	ORPHA:746
HP:0002359	Frequent falls	3030	HADHA	ORPHA:746
HP:0002359	Frequent falls	6442	SGCA	ORPHA:62
HP:0002359	Frequent falls	9990	SLC12A6	OMIM:620068
HP:0002359	Frequent falls	58	ACTA1	OMIM:161800
HP:0002359	Frequent falls	80704	SLC19A3	OMIM:607483
HP:0002359	Frequent falls	6872	TAF1	ORPHA:53351
HP:0002359	Frequent falls	5375	PMP2	OMIM:618279
HP:0002359	Frequent falls	5621	PRNP	ORPHA:157941
HP:0002359	Frequent falls	2273	FHL1	OMIM:300718
HP:0002359	Frequent falls	79152	FA2H	ORPHA:171629
HP:0002359	Frequent falls	2741	GLRA1	OMIM:149400
HP:0002359	Frequent falls	10243	GPHN	OMIM:149400
HP:0002359	Frequent falls	9409	PEX16	OMIM:614877
HP:0002359	Frequent falls	8292	COLQ	ORPHA:98915
HP:0002359	Frequent falls	3913	LAMB2	ORPHA:98915
HP:0002359	Frequent falls	111	ADCY5	OMIM:619647
HP:0002359	Frequent falls	11261	CHP1	OMIM:618438
HP:0002359	Frequent falls	10558	SPTLC1	OMIM:162400
HP:0002359	Frequent falls	4508	MT-ATP6	ORPHA:225154
HP:0002359	Frequent falls	23636	NUP62	ORPHA:225154
HP:0002359	Frequent falls	103	ADAR	ORPHA:225154
HP:0002359	Frequent falls	80025	PANK2	ORPHA:216873
HP:0002359	Frequent falls	80025	PANK2	ORPHA:216866
HP:0002359	Frequent falls	84823	LMNB2	OMIM:616540
HP:0002359	Frequent falls	6389	SDHA	ORPHA:3208
HP:0002359	Frequent falls	6390	SDHB	ORPHA:3208
HP:0002359	Frequent falls	6392	SDHD	ORPHA:3208
HP:0002359	Frequent falls	644096	SDHAF1	ORPHA:3208
HP:0002359	Frequent falls	383	ARG1	OMIM:207800
HP:0002359	Frequent falls	23533	PIK3R5	OMIM:615217
HP:0002359	Frequent falls	1073	CFL2	OMIM:610687
HP:0002359	Frequent falls	9997	SCO2	ORPHA:521411
HP:0002359	Frequent falls	122622	ADSS1	ORPHA:482601
HP:0002359	Frequent falls	2055	CLN8	ORPHA:1947
HP:0002359	Frequent falls	4556	MT-TE	ORPHA:2596
HP:0002359	Frequent falls	57410	SCYL1	ORPHA:466794
HP:0002359	Frequent falls	57410	SCYL1	OMIM:616719
HP:0002359	Frequent falls	23479	ISCU	OMIM:255125
HP:0002359	Frequent falls	124093	CCDC78	OMIM:614807
HP:0002359	Frequent falls	9181	ARHGEF2	OMIM:617523
HP:0002359	Frequent falls	2583	B4GALNT1	OMIM:609195
HP:0002359	Frequent falls	79628	SH3TC2	ORPHA:99949
HP:0002359	Frequent falls	8996	NOL3	OMIM:614937
HP:0002359	Frequent falls	9927	MFN2	ORPHA:99947
HP:0002359	Frequent falls	4976	OPA1	OMIM:210000
HP:0002359	Frequent falls	65055	REEP1	OMIM:620011
HP:0002359	Frequent falls	6786	STIM1	OMIM:160565
HP:0002359	Frequent falls	54808	DYM	ORPHA:239
HP:0012570	Synovial sarcoma	6757	SSX2	OMIM:300813
HP:0012572	Ureter duplex	64321	SOX17	OMIM:613674
HP:0012574	Mesangial hypercellularity	1314	COPA	OMIM:616414
HP:0012574	Mesangial hypercellularity	348	APOE	OMIM:611771
HP:0012574	Mesangial hypercellularity	10253	SPRY2	OMIM:616818
HP:0012574	Mesangial hypercellularity	55243	KIRREL1	OMIM:619201
HP:0012574	Mesangial hypercellularity	8879	SGPL1	OMIM:617575
HP:0012574	Mesangial hypercellularity	81494	CFHR5	OMIM:614809
HP:0012575	Abnormal nephron morphology	56945	MRPS22	OMIM:611719
HP:0012575	Abnormal nephron morphology	5373	PMM2	ORPHA:79318
HP:0012575	Abnormal nephron morphology	4536	MT-ND2	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4537	MT-ND3	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4577	MT-TV	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4508	MT-ATP6	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4566	MT-TK	ORPHA:255210
HP:0012575	Abnormal nephron morphology	23729	SHPK	ORPHA:440713
HP:0012575	Abnormal nephron morphology	56606	SLC2A9	ORPHA:94088
HP:0012575	Abnormal nephron morphology	116085	SLC22A12	ORPHA:94088
HP:0012575	Abnormal nephron morphology	4952	OCRL	ORPHA:534
HP:0012575	Abnormal nephron morphology	2717	GLA	ORPHA:324
HP:0012575	Abnormal nephron morphology	25915	NDUFAF3	ORPHA:70474
HP:0012575	Abnormal nephron morphology	4714	NDUFB8	ORPHA:70474
HP:0012575	Abnormal nephron morphology	4720	NDUFS2	ORPHA:70474
HP:0012575	Abnormal nephron morphology	9997	SCO2	ORPHA:70474
HP:0012575	Abnormal nephron morphology	6834	SURF1	ORPHA:70474
HP:0012575	Abnormal nephron morphology	7369	UMOD	OMIM:162000
HP:0012575	Abnormal nephron morphology	23322	RPGRIP1L	OMIM:619113
HP:0012575	Abnormal nephron morphology	63929	XPNPEP3	OMIM:613159
HP:0012575	Abnormal nephron morphology	84662	GLIS2	OMIM:611498
HP:0012575	Abnormal nephron morphology	261734	NPHP4	OMIM:606966
HP:0012575	Abnormal nephron morphology	26276	VPS33B	OMIM:208085
HP:0012575	Abnormal nephron morphology	27031	NPHP3	OMIM:604387
HP:0012575	Abnormal nephron morphology	54345	SOX18	OMIM:137940
HP:0012575	Abnormal nephron morphology	8518	ELP1	OMIM:223900
HP:0012575	Abnormal nephron morphology	11277	TREX1	ORPHA:247691
HP:0012575	Abnormal nephron morphology	100147744	RNU7-1	OMIM:619487
HP:0012575	Abnormal nephron morphology	5339	PLEC	ORPHA:158684
HP:0012575	Abnormal nephron morphology	3691	ITGB4	ORPHA:158684
HP:0012575	Abnormal nephron morphology	7428	VHL	ORPHA:29072
HP:0012575	Abnormal nephron morphology	7428	VHL	ORPHA:276621
HP:0012575	Abnormal nephron morphology	1743	DLST	ORPHA:29072
HP:0012575	Abnormal nephron morphology	4191	MDH2	ORPHA:29072
HP:0012575	Abnormal nephron morphology	5979	RET	ORPHA:29072
HP:0012575	Abnormal nephron morphology	5979	RET	ORPHA:276621
HP:0012575	Abnormal nephron morphology	6389	SDHA	ORPHA:29072
HP:0012575	Abnormal nephron morphology	23095	KIF1B	ORPHA:29072
HP:0012575	Abnormal nephron morphology	2271	FH	ORPHA:29072
HP:0012575	Abnormal nephron morphology	8402	SLC25A11	ORPHA:29072
HP:0012575	Abnormal nephron morphology	54949	SDHAF2	ORPHA:29072
HP:0012575	Abnormal nephron morphology	55654	TMEM127	ORPHA:29072
HP:0012575	Abnormal nephron morphology	4763	NF1	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6391	SDHC	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6392	SDHD	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6392	SDHD	ORPHA:276621
HP:0012575	Abnormal nephron morphology	6390	SDHB	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6390	SDHB	ORPHA:276621
HP:0012575	Abnormal nephron morphology	4149	MAX	ORPHA:29072
HP:0012575	Abnormal nephron morphology	1788	DNMT3A	ORPHA:276621
HP:0012575	Abnormal nephron morphology	2034	EPAS1	ORPHA:276621
HP:0012575	Abnormal nephron morphology	2184	FAH	OMIM:276700
HP:0012575	Abnormal nephron morphology	4558	MT-TF	ORPHA:550
HP:0012575	Abnormal nephron morphology	4572	MT-TQ	ORPHA:550
HP:0012575	Abnormal nephron morphology	4512	MT-CO1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4513	MT-CO2	ORPHA:550
HP:0012575	Abnormal nephron morphology	4514	MT-CO3	ORPHA:550
HP:0012575	Abnormal nephron morphology	4578	MT-TW	ORPHA:550
HP:0012575	Abnormal nephron morphology	4540	MT-ND5	ORPHA:550
HP:0012575	Abnormal nephron morphology	4541	MT-ND6	ORPHA:550
HP:0012575	Abnormal nephron morphology	4535	MT-ND1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4538	MT-ND4	ORPHA:550
HP:0012575	Abnormal nephron morphology	4567	MT-TL1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4574	MT-TS1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4575	MT-TS2	ORPHA:550
HP:0012575	Abnormal nephron morphology	4564	MT-TH	ORPHA:550
HP:0012575	Abnormal nephron morphology	5972	REN	OMIM:613092
HP:0012575	Abnormal nephron morphology	8270	LAGE3	OMIM:301006
HP:0012575	Abnormal nephron morphology	29927	SEC61A1	OMIM:617056
HP:0012575	Abnormal nephron morphology	51002	TPRKB	OMIM:617731
HP:0012575	Abnormal nephron morphology	10785	WDR4	OMIM:618347
HP:0012575	Abnormal nephron morphology	3675	ITGA3	OMIM:614748
HP:0012575	Abnormal nephron morphology	1184	CLCN5	OMIM:308990
HP:0012575	Abnormal nephron morphology	2542	SLC37A4	OMIM:232220
HP:0012575	Abnormal nephron morphology	2542	SLC37A4	OMIM:232240
HP:0012575	Abnormal nephron morphology	10651	MTX2	OMIM:619127
HP:0012575	Abnormal nephron morphology	50485	SMARCAL1	ORPHA:1830
HP:0012575	Abnormal nephron morphology	50485	SMARCAL1	OMIM:242900
HP:0012575	Abnormal nephron morphology	65082	VPS33A	OMIM:617303
HP:0012575	Abnormal nephron morphology	182	JAG1	OMIM:118450
HP:0012575	Abnormal nephron morphology	2538	G6PC1	OMIM:232200
HP:0012575	Abnormal nephron morphology	3911	LAMA5	OMIM:620049
HP:0012575	Abnormal nephron morphology	79731	NARS2	OMIM:616239
HP:0012575	Abnormal nephron morphology	950	SCARB2	OMIM:254900
HP:0012575	Abnormal nephron morphology	355	FAS	ORPHA:3261
HP:0012575	Abnormal nephron morphology	356	FASLG	ORPHA:3261
HP:0012575	Abnormal nephron morphology	5580	PRKCD	ORPHA:3261
HP:0012575	Abnormal nephron morphology	843	CASP10	ORPHA:3261
HP:0012575	Abnormal nephron morphology	10125	RASGRP1	ORPHA:3261
HP:0012575	Abnormal nephron morphology	720	C4A	OMIM:614380
HP:0012575	Abnormal nephron morphology	8651	SOCS1	OMIM:619375
HP:0012575	Abnormal nephron morphology	975	CD81	OMIM:613496
HP:0012575	Abnormal nephron morphology	3426	CFI	OMIM:610984
HP:0012575	Abnormal nephron morphology	81494	CFHR5	OMIM:614809
HP:0012575	Abnormal nephron morphology	4010	LMX1B	OMIM:161200
HP:0012575	Abnormal nephron morphology	4312	MMP1	ORPHA:79408
HP:0012575	Abnormal nephron morphology	1294	COL7A1	ORPHA:79408
HP:0012575	Abnormal nephron morphology	4311	MME	ORPHA:69063
HP:0012575	Abnormal nephron morphology	57728	WDR19	OMIM:614376
HP:0012575	Abnormal nephron morphology	81603	TRIM8	OMIM:619428
HP:0012575	Abnormal nephron morphology	6557	SLC12A1	OMIM:601678
HP:0012575	Abnormal nephron morphology	3758	KCNJ1	OMIM:241200
HP:0012575	Abnormal nephron morphology	57169	ZNFX1	OMIM:619644
HP:0012575	Abnormal nephron morphology	1777	DNASE2	OMIM:619858
HP:0012575	Abnormal nephron morphology	712	C1QA	OMIM:613652
HP:0012575	Abnormal nephron morphology	5238	PGM3	ORPHA:443811
HP:0012575	Abnormal nephron morphology	5238	PGM3	OMIM:615816
HP:0012575	Abnormal nephron morphology	718	C3	OMIM:613779
HP:0012575	Abnormal nephron morphology	2335	FN1	ORPHA:84090
HP:0012575	Abnormal nephron morphology	112858	TP53RK	OMIM:617730
HP:0012575	Abnormal nephron morphology	396	ARHGDIA	OMIM:615244
HP:0012575	Abnormal nephron morphology	396	ARHGDIA	ORPHA:656
HP:0012575	Abnormal nephron morphology	51004	COQ6	OMIM:614650
HP:0012575	Abnormal nephron morphology	9688	NUP93	OMIM:616892
HP:0012575	Abnormal nephron morphology	9688	NUP93	ORPHA:656
HP:0012575	Abnormal nephron morphology	100	ADA	OMIM:102700
HP:0012575	Abnormal nephron morphology	57122	NUP107	OMIM:616730
HP:0012575	Abnormal nephron morphology	57122	NUP107	OMIM:618348
HP:0012575	Abnormal nephron morphology	57122	NUP107	ORPHA:656
HP:0012575	Abnormal nephron morphology	84520	GON7	OMIM:619603
HP:0012575	Abnormal nephron morphology	7490	WT1	OMIM:256370
HP:0012575	Abnormal nephron morphology	7490	WT1	OMIM:194080
HP:0012575	Abnormal nephron morphology	7490	WT1	ORPHA:656
HP:0012575	Abnormal nephron morphology	84942	WDR73	OMIM:251300
HP:0012575	Abnormal nephron morphology	55644	OSGEP	OMIM:617729
HP:0012575	Abnormal nephron morphology	3913	LAMB2	OMIM:609049
HP:0012575	Abnormal nephron morphology	51196	PLCE1	OMIM:610725
HP:0012575	Abnormal nephron morphology	51196	PLCE1	ORPHA:656
HP:0012575	Abnormal nephron morphology	4868	NPHS1	OMIM:256300
HP:0012575	Abnormal nephron morphology	4868	NPHS1	ORPHA:656
HP:0012575	Abnormal nephron morphology	23607	CD2AP	ORPHA:656
HP:0012575	Abnormal nephron morphology	4643	MYO1E	ORPHA:656
HP:0012575	Abnormal nephron morphology	64423	INF2	ORPHA:656
HP:0012575	Abnormal nephron morphology	26130	GAPVD1	ORPHA:656
HP:0012575	Abnormal nephron morphology	51479	ANKFY1	ORPHA:656
HP:0012575	Abnormal nephron morphology	54443	ANLN	ORPHA:656
HP:0012575	Abnormal nephron morphology	5800	PTPRO	ORPHA:656
HP:0012575	Abnormal nephron morphology	286204	CRB2	ORPHA:656
HP:0012575	Abnormal nephron morphology	23165	NUP205	ORPHA:656
HP:0012575	Abnormal nephron morphology	79023	NUP37	ORPHA:656
HP:0012575	Abnormal nephron morphology	79902	NUP85	ORPHA:656
HP:0012575	Abnormal nephron morphology	1285	COL4A3	ORPHA:656
HP:0012575	Abnormal nephron morphology	79934	COQ8B	ORPHA:656
HP:0012575	Abnormal nephron morphology	23279	NUP160	ORPHA:656
HP:0012575	Abnormal nephron morphology	9863	MAGI2	ORPHA:656
HP:0012575	Abnormal nephron morphology	81	ACTN4	ORPHA:656
HP:0012575	Abnormal nephron morphology	7225	TRPC6	ORPHA:656
HP:0012575	Abnormal nephron morphology	8542	APOL1	ORPHA:656
HP:0012575	Abnormal nephron morphology	54885	TBC1D8B	ORPHA:656
HP:0012575	Abnormal nephron morphology	7827	NPHS2	ORPHA:656
HP:0012575	Abnormal nephron morphology	83478	ARHGAP24	ORPHA:656
HP:0012575	Abnormal nephron morphology	5076	PAX2	ORPHA:656
HP:0012575	Abnormal nephron morphology	55746	NUP133	ORPHA:656
HP:0012575	Abnormal nephron morphology	6804	STX1A	ORPHA:904
HP:0012575	Abnormal nephron morphology	7461	CLIP2	ORPHA:904
HP:0012575	Abnormal nephron morphology	84277	DNAJC30	ORPHA:904
HP:0012575	Abnormal nephron morphology	8468	FKBP6	ORPHA:904
HP:0012575	Abnormal nephron morphology	5982	RFC2	ORPHA:904
HP:0012575	Abnormal nephron morphology	2969	GTF2I	ORPHA:904
HP:0012575	Abnormal nephron morphology	3984	LIMK1	ORPHA:904
HP:0012575	Abnormal nephron morphology	9569	GTF2IRD1	ORPHA:904
HP:0012575	Abnormal nephron morphology	155382	VPS37D	ORPHA:904
HP:0012575	Abnormal nephron morphology	155368	METTL27	ORPHA:904
HP:0012575	Abnormal nephron morphology	114049	BUD23	ORPHA:904
HP:0012575	Abnormal nephron morphology	7458	EIF4H	ORPHA:904
HP:0012575	Abnormal nephron morphology	84163	GTF2IRD2	ORPHA:904
HP:0012575	Abnormal nephron morphology	9275	BCL7B	ORPHA:904
HP:0012575	Abnormal nephron morphology	26608	TBL2	ORPHA:904
HP:0012575	Abnormal nephron morphology	653361	NCF1	ORPHA:904
HP:0012575	Abnormal nephron morphology	135886	TMEM270	ORPHA:904
HP:0012575	Abnormal nephron morphology	51085	MLXIPL	ORPHA:904
HP:0012575	Abnormal nephron morphology	9031	BAZ1B	ORPHA:904
HP:0012575	Abnormal nephron morphology	2006	ELN	ORPHA:904
HP:0012575	Abnormal nephron morphology	1497	CTNS	ORPHA:411629
HP:0012575	Abnormal nephron morphology	9056	SLC7A7	ORPHA:470
HP:0012575	Abnormal nephron morphology	57107	PDSS2	ORPHA:255249
HP:0012575	Abnormal nephron morphology	27235	COQ2	ORPHA:255249
HP:0012575	Abnormal nephron morphology	10463	SLC30A9	OMIM:617595
HP:0012575	Abnormal nephron morphology	11222	MRPL3	OMIM:614582
HP:0012575	Abnormal nephron morphology	50943	FOXP3	ORPHA:37042
HP:0012575	Abnormal nephron morphology	1801	DPH1	OMIM:616901
HP:0012575	Abnormal nephron morphology	1801	DPH1	ORPHA:459061
HP:0012575	Abnormal nephron morphology	1376	CPT2	ORPHA:228302
HP:0012575	Abnormal nephron morphology	1376	CPT2	ORPHA:228308
HP:0012575	Abnormal nephron morphology	2303	FOXC2	ORPHA:33001
HP:0012575	Abnormal nephron morphology	26146	TRAF3IP1	OMIM:616629
HP:0012575	Abnormal nephron morphology	7840	ALMS1	OMIM:203800
HP:0012575	Abnormal nephron morphology	4594	MMUT	OMIM:251000
HP:0012575	Abnormal nephron morphology	83480	PUS3	ORPHA:488627
HP:0012575	Abnormal nephron morphology	55764	IFT122	OMIM:218330
HP:0012575	Abnormal nephron morphology	51134	CEP83	OMIM:615862
HP:0012575	Abnormal nephron morphology	4582	MUC1	OMIM:174000
HP:0012575	Abnormal nephron morphology	1188	CLCNKB	ORPHA:358
HP:0012575	Abnormal nephron morphology	6559	SLC12A3	ORPHA:358
HP:0012575	Abnormal nephron morphology	617	BCS1L	OMIM:124000
HP:0012575	Abnormal nephron morphology	56244	BTNL2	ORPHA:797
HP:0012575	Abnormal nephron morphology	3123	HLA-DRB1	ORPHA:797
HP:0012575	Abnormal nephron morphology	22909	FAN1	OMIM:614817
HP:0012575	Abnormal nephron morphology	2625	GATA3	OMIM:146255
HP:0012575	Abnormal nephron morphology	1287	COL4A5	OMIM:301050
HP:0012575	Abnormal nephron morphology	7809	BSND	OMIM:602522
HP:0012575	Abnormal nephron morphology	8260	NAA10	OMIM:300855
HP:0012575	Abnormal nephron morphology	27130	INVS	OMIM:602088
HP:0012575	Abnormal nephron morphology	3075	CFH	OMIM:609814
HP:0012575	Abnormal nephron morphology	5087	PBX1	OMIM:617641
HP:0012575	Abnormal nephron morphology	54	ACP5	OMIM:607944
HP:0012575	Abnormal nephron morphology	5314	PKHD1	OMIM:263200
HP:0012575	Abnormal nephron morphology	137682	NDUFAF6	OMIM:618913
HP:0012575	Abnormal nephron morphology	2632	GBE1	OMIM:232500
HP:0012575	Abnormal nephron morphology	84168	ANTXR1	OMIM:230740
HP:0012575	Abnormal nephron morphology	1314	COPA	OMIM:616414
HP:0012575	Abnormal nephron morphology	183	AGT	OMIM:267430
HP:0012575	Abnormal nephron morphology	185	AGTR1	OMIM:267430
HP:0012575	Abnormal nephron morphology	1636	ACE	OMIM:267430
HP:0012575	Abnormal nephron morphology	3909	LAMA3	ORPHA:79404
HP:0012575	Abnormal nephron morphology	3918	LAMC2	ORPHA:79404
HP:0012575	Abnormal nephron morphology	3914	LAMB3	ORPHA:79404
HP:0012575	Abnormal nephron morphology	10253	SPRY2	OMIM:616818
HP:0012575	Abnormal nephron morphology	1286	COL4A4	OMIM:141200
HP:0012575	Abnormal nephron morphology	3716	JAK1	OMIM:618999
HP:0012575	Abnormal nephron morphology	25959	KANK2	OMIM:617783
HP:0012575	Abnormal nephron morphology	51473	DCDC2	ORPHA:84081
HP:0012575	Abnormal nephron morphology	91147	TMEM67	ORPHA:84081
HP:0012575	Abnormal nephron morphology	4867	NPHP1	OMIM:266900
HP:0012575	Abnormal nephron morphology	2013	EMP2	OMIM:615861
HP:0012575	Abnormal nephron morphology	7535	ZAP70	OMIM:617006
HP:0012575	Abnormal nephron morphology	8526	DGKE	OMIM:615008
HP:0012575	Abnormal nephron morphology	55243	KIRREL1	OMIM:619201
HP:0012575	Abnormal nephron morphology	23500	DAAM2	OMIM:619263
HP:0012575	Abnormal nephron morphology	79693	YRDC	OMIM:619609
HP:0012575	Abnormal nephron morphology	8879	SGPL1	OMIM:617575
HP:0012575	Abnormal nephron morphology	9722	NOS1AP	OMIM:619155
HP:0012575	Abnormal nephron morphology	10677	AVIL	OMIM:618594
HP:0012575	Abnormal nephron morphology	7289	TULP3	OMIM:619902
HP:0012575	Abnormal nephron morphology	254428	SLC41A1	OMIM:619468
HP:0012575	Abnormal nephron morphology	977	CD151	OMIM:609057
HP:0012575	Abnormal nephron morphology	2212	FCGR2A	OMIM:152700
HP:0012575	Abnormal nephron morphology	2213	FCGR2B	OMIM:152700
HP:0012575	Abnormal nephron morphology	1773	DNASE1	OMIM:152700
HP:0012575	Abnormal nephron morphology	93649	MYOCD	OMIM:618719
HP:0012575	Abnormal nephron morphology	9663	LPIN2	ORPHA:77297
HP:0012575	Abnormal nephron morphology	348	APOE	OMIM:611771
HP:0012575	Abnormal nephron morphology	25974	MMACHC	ORPHA:79282
HP:0012575	Abnormal nephron morphology	7454	WAS	ORPHA:906
HP:0012575	Abnormal nephron morphology	7456	WIPF1	ORPHA:906
HP:0012575	Abnormal nephron morphology	84823	LMNB2	ORPHA:79087
HP:0012575	Abnormal nephron morphology	1493	CTLA4	ORPHA:900
HP:0012575	Abnormal nephron morphology	26191	PTPN22	ORPHA:900
HP:0012575	Abnormal nephron morphology	3115	HLA-DPB1	ORPHA:900
HP:0012575	Abnormal nephron morphology	5657	PRTN3	ORPHA:900
HP:0012575	Abnormal nephron morphology	3113	HLA-DPA1	ORPHA:900
HP:0012575	Abnormal nephron morphology	1776	DNASE1L3	ORPHA:36412
HP:0012575	Abnormal nephron morphology	6928	HNF1B	ORPHA:93111
HP:0012575	Abnormal nephron morphology	4556	MT-TE	ORPHA:225
HP:0012575	Abnormal nephron morphology	23630	KCNE5	ORPHA:86818
HP:0012575	Abnormal nephron morphology	2182	ACSL4	ORPHA:86818
HP:0012575	Abnormal nephron morphology	9949	AMMECR1	ORPHA:86818
HP:0012575	Abnormal nephron morphology	4552	MTRR	ORPHA:2169
HP:0012575	Abnormal nephron morphology	149233	IL23R	ORPHA:117
HP:0012575	Abnormal nephron morphology	6775	STAT4	ORPHA:117
HP:0012575	Abnormal nephron morphology	3586	IL10	ORPHA:117
HP:0012575	Abnormal nephron morphology	4210	MEFV	ORPHA:117
HP:0012575	Abnormal nephron morphology	1230	CCR1	ORPHA:117
HP:0012575	Abnormal nephron morphology	3592	IL12A	ORPHA:117
HP:0012575	Abnormal nephron morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012575	Abnormal nephron morphology	3106	HLA-B	ORPHA:117
HP:0012575	Abnormal nephron morphology	7099	TLR4	ORPHA:117
HP:0012575	Abnormal nephron morphology	3459	IFNGR1	ORPHA:117
HP:0012575	Abnormal nephron morphology	337867	UBAC2	ORPHA:117
HP:0012575	Abnormal nephron morphology	51752	ERAP1	ORPHA:117
HP:0012575	Abnormal nephron morphology	8302	KLRC4	ORPHA:117
HP:0012575	Abnormal nephron morphology	4000	LMNA	ORPHA:2348
HP:0012576	Glomerular C3 deposition	81494	CFHR5	OMIM:614809
HP:0012577	Thin glomerular basement membrane	1286	COL4A4	OMIM:141200
HP:0012577	Thin glomerular basement membrane	396	ARHGDIA	OMIM:615244
HP:0012578	Membranous nephropathy	50943	FOXP3	ORPHA:37042
HP:0012578	Membranous nephropathy	5580	PRKCD	OMIM:615559
HP:0012578	Membranous nephropathy	9056	SLC7A7	ORPHA:470
HP:0012578	Membranous nephropathy	3716	JAK1	OMIM:618999
HP:0012579	Minimal change glomerulonephritis	55243	KIRREL1	OMIM:619201
HP:0012579	Minimal change glomerulonephritis	8270	LAGE3	OMIM:301006
HP:0012579	Minimal change glomerulonephritis	25959	KANK2	OMIM:617783
HP:0012579	Minimal change glomerulonephritis	5800	PTPRO	OMIM:614196
HP:0012579	Minimal change glomerulonephritis	5800	PTPRO	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	50485	SMARCAL1	ORPHA:1830
HP:0012579	Minimal change glomerulonephritis	2013	EMP2	OMIM:615861
HP:0012579	Minimal change glomerulonephritis	2013	EMP2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7535	ZAP70	OMIM:617006
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	OMIM:616730
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	OMIM:618348
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	9863	MAGI2	OMIM:617609
HP:0012579	Minimal change glomerulonephritis	9863	MAGI2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	4010	LMX1B	OMIM:256020
HP:0012579	Minimal change glomerulonephritis	4868	NPHS1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23607	CD2AP	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	9688	NUP93	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	4643	MYO1E	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	64423	INF2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	26130	GAPVD1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7490	WT1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	51479	ANKFY1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	54443	ANLN	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	286204	CRB2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23165	NUP205	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79023	NUP37	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	51196	PLCE1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79902	NUP85	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	1285	COL4A3	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	396	ARHGDIA	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79934	COQ8B	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23279	NUP160	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	81	ACTN4	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7225	TRPC6	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	8542	APOL1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	54885	TBC1D8B	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7827	NPHS2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	83478	ARHGAP24	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23500	DAAM2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	5076	PAX2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	55746	NUP133	ORPHA:656
HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0002360	Sleep disturbance	4927	NUP88	ORPHA:994
HP:0002360	Sleep disturbance	7846	TUBA1A	ORPHA:994
HP:0002360	Sleep disturbance	4654	MYOD1	ORPHA:994
HP:0002360	Sleep disturbance	4593	MUSK	ORPHA:994
HP:0002360	Sleep disturbance	5913	RAPSN	ORPHA:994
HP:0002360	Sleep disturbance	285489	DOK7	ORPHA:994
HP:0002360	Sleep disturbance	8314	BAP1	ORPHA:2495
HP:0002360	Sleep disturbance	4771	NF2	ORPHA:2495
HP:0002360	Sleep disturbance	6598	SMARCB1	ORPHA:2495
HP:0002360	Sleep disturbance	5155	PDGFB	ORPHA:2495
HP:0002360	Sleep disturbance	84231	TRAF7	ORPHA:2495
HP:0002360	Sleep disturbance	207	AKT1	ORPHA:2495
HP:0002360	Sleep disturbance	5290	PIK3CA	ORPHA:2495
HP:0002360	Sleep disturbance	51684	SUFU	ORPHA:2495
HP:0002360	Sleep disturbance	6605	SMARCE1	ORPHA:2495
HP:0002360	Sleep disturbance	84334	COA8	ORPHA:436271
HP:0002360	Sleep disturbance	2705	GJB1	ORPHA:101075
HP:0002360	Sleep disturbance	2203	FBP1	ORPHA:348
HP:0002360	Sleep disturbance	5631	PRPS1	ORPHA:99014
HP:0002360	Sleep disturbance	57465	TBC1D24	ORPHA:352596
HP:0002360	Sleep disturbance	4552	MTRR	ORPHA:2169
HP:0002360	Sleep disturbance	56652	TWNK	OMIM:271245
HP:0002360	Sleep disturbance	29954	POMT2	OMIM:236670
HP:0002360	Sleep disturbance	9215	LARGE1	OMIM:236670
HP:0002360	Sleep disturbance	79147	FKRP	OMIM:236670
HP:0002360	Sleep disturbance	10585	POMT1	OMIM:236670
HP:0002360	Sleep disturbance	2218	FKTN	OMIM:236670
HP:0002360	Sleep disturbance	38	ACAT1	ORPHA:134
HP:0002360	Sleep disturbance	5805	PTS	OMIM:261640
HP:0002360	Sleep disturbance	1807	DPYS	OMIM:222748
HP:0002360	Sleep disturbance	3155	HMGCL	OMIM:246450
HP:0002360	Sleep disturbance	8260	NAA10	ORPHA:276432
HP:0002360	Sleep disturbance	7187	TRAF3	ORPHA:1930
HP:0002360	Sleep disturbance	81622	UNC93B1	ORPHA:1930
HP:0002360	Sleep disturbance	148022	TICAM1	ORPHA:1930
HP:0002360	Sleep disturbance	7098	TLR3	ORPHA:1930
HP:0002360	Sleep disturbance	29110	TBK1	ORPHA:1930
HP:0002360	Sleep disturbance	6584	SLC22A5	OMIM:212140
HP:0002360	Sleep disturbance	27183	VPS4A	OMIM:619273
HP:0002360	Sleep disturbance	23394	ADNP	ORPHA:404448
HP:0002360	Sleep disturbance	8367	H4C5	OMIM:619950
HP:0002360	Sleep disturbance	23019	CNOT1	OMIM:619033
HP:0002360	Sleep disturbance	23135	KDM6B	OMIM:618505
HP:0002360	Sleep disturbance	7253	TSHR	ORPHA:99819
HP:0002360	Sleep disturbance	7253	TSHR	ORPHA:424
HP:0002360	Sleep disturbance	55777	MBD5	ORPHA:228402
HP:0002360	Sleep disturbance	84942	WDR73	OMIM:251300
HP:0002360	Sleep disturbance	1119	CHKA	OMIM:620023
HP:0002360	Sleep disturbance	1161	ERCC8	ORPHA:90321
HP:0002360	Sleep disturbance	2072	ERCC4	ORPHA:90321
HP:0002360	Sleep disturbance	2074	ERCC6	ORPHA:90321
HP:0002360	Sleep disturbance	23126	POGZ	ORPHA:468678
HP:0002360	Sleep disturbance	23126	POGZ	OMIM:616364
HP:0002360	Sleep disturbance	55209	SETD5	ORPHA:404440
HP:0002360	Sleep disturbance	1639	DCTN1	ORPHA:178509
HP:0002360	Sleep disturbance	1639	DCTN1	OMIM:168605
HP:0002360	Sleep disturbance	10479	SLC9A6	OMIM:300243
HP:0002360	Sleep disturbance	3119	HLA-DQB1	ORPHA:83465
HP:0002360	Sleep disturbance	3119	HLA-DQB1	ORPHA:2073
HP:0002360	Sleep disturbance	3060	HCRT	ORPHA:83465
HP:0002360	Sleep disturbance	3060	HCRT	ORPHA:2073
HP:0002360	Sleep disturbance	22891	ZNF365	ORPHA:83465
HP:0002360	Sleep disturbance	22891	ZNF365	ORPHA:2073
HP:0002360	Sleep disturbance	3123	HLA-DRB1	ORPHA:83465
HP:0002360	Sleep disturbance	3123	HLA-DRB1	ORPHA:2073
HP:0002360	Sleep disturbance	116931	MED12L	OMIM:618872
HP:0002360	Sleep disturbance	2314	FLII	ORPHA:819
HP:0002360	Sleep disturbance	23096	IQSEC2	ORPHA:819
HP:0002360	Sleep disturbance	10522	DEAF1	ORPHA:819
HP:0002360	Sleep disturbance	10522	DEAF1	OMIM:615828
HP:0002360	Sleep disturbance	10522	DEAF1	OMIM:617171
HP:0002360	Sleep disturbance	10522	DEAF1	ORPHA:468620
HP:0002360	Sleep disturbance	1717	DHCR7	ORPHA:818
HP:0002360	Sleep disturbance	57589	RIC1	OMIM:618761
HP:0002360	Sleep disturbance	288	ANK3	OMIM:615493
HP:0002360	Sleep disturbance	288	ANK3	ORPHA:356996
HP:0002360	Sleep disturbance	55870	ASH1L	OMIM:617796
HP:0002360	Sleep disturbance	9739	SETD1A	OMIM:619056
HP:0002360	Sleep disturbance	80204	FBXO11	OMIM:618089
HP:0002360	Sleep disturbance	1757	SARDH	ORPHA:3129
HP:0002360	Sleep disturbance	7021	TFAP2B	ORPHA:46627
HP:0002360	Sleep disturbance	816	CAMK2B	OMIM:617799
HP:0002360	Sleep disturbance	7528	YY1	OMIM:617557
HP:0002360	Sleep disturbance	3064	HTT	OMIM:617435
HP:0002360	Sleep disturbance	3423	IDS	ORPHA:217085
HP:0002360	Sleep disturbance	3423	IDS	ORPHA:217093
HP:0002360	Sleep disturbance	7080	NKX2-1	ORPHA:209905
HP:0002360	Sleep disturbance	7080	NKX2-1	OMIM:610978
HP:0002360	Sleep disturbance	171023	ASXL1	ORPHA:97297
HP:0002360	Sleep disturbance	9839	ZEB2	ORPHA:261552
HP:0002360	Sleep disturbance	9839	ZEB2	ORPHA:261537
HP:0002360	Sleep disturbance	57190	SELENON	ORPHA:2020
HP:0002360	Sleep disturbance	58	ACTA1	ORPHA:2020
HP:0002360	Sleep disturbance	4633	MYL2	ORPHA:2020
HP:0002360	Sleep disturbance	3679	ITGA7	ORPHA:2020
HP:0002360	Sleep disturbance	7169	TPM2	ORPHA:2020
HP:0002360	Sleep disturbance	9200	HACD1	ORPHA:2020
HP:0002360	Sleep disturbance	7170	TPM3	ORPHA:2020
HP:0002360	Sleep disturbance	51776	MAP3K20	ORPHA:2020
HP:0002360	Sleep disturbance	833	CARS1	OMIM:618891
HP:0002360	Sleep disturbance	790955	UQCC3	OMIM:616111
HP:0002360	Sleep disturbance	3340	NDST1	OMIM:616116
HP:0002360	Sleep disturbance	79813	EHMT1	OMIM:610253
HP:0002360	Sleep disturbance	79813	EHMT1	ORPHA:96147
HP:0002360	Sleep disturbance	23230	VPS13A	ORPHA:2388
HP:0002360	Sleep disturbance	23314	SATB2	OMIM:612313
HP:0002360	Sleep disturbance	23314	SATB2	ORPHA:576283
HP:0002360	Sleep disturbance	23314	SATB2	ORPHA:251019
HP:0002360	Sleep disturbance	2903	GRIN2A	ORPHA:98818
HP:0002360	Sleep disturbance	25942	SIN3A	OMIM:613406
HP:0002360	Sleep disturbance	175	AGA	ORPHA:93
HP:0002360	Sleep disturbance	1499	CTNNB1	ORPHA:54595
HP:0002360	Sleep disturbance	1499	CTNNB1	ORPHA:404473
HP:0002360	Sleep disturbance	673	BRAF	ORPHA:54595
HP:0002360	Sleep disturbance	5621	PRNP	ORPHA:356
HP:0002360	Sleep disturbance	5621	PRNP	ORPHA:280397
HP:0002360	Sleep disturbance	7840	ALMS1	ORPHA:64
HP:0002360	Sleep disturbance	9131	AIFM1	ORPHA:101078
HP:0002360	Sleep disturbance	1621	DBH	ORPHA:230
HP:0002360	Sleep disturbance	57680	CHD8	OMIM:615032
HP:0002360	Sleep disturbance	2321	FLT1	ORPHA:275555
HP:0002360	Sleep disturbance	219736	STOX1	ORPHA:275555
HP:0002360	Sleep disturbance	10699	CORIN	ORPHA:275555
HP:0002360	Sleep disturbance	493856	CISD2	ORPHA:3463
HP:0002360	Sleep disturbance	7466	WFS1	ORPHA:3463
HP:0002360	Sleep disturbance	8659	ALDH4A1	ORPHA:79101
HP:0002360	Sleep disturbance	22859	ADGRL1	OMIM:620065
HP:0002360	Sleep disturbance	25814	ATXN10	ORPHA:98761
HP:0002360	Sleep disturbance	51611	DPH5	OMIM:620070
HP:0002360	Sleep disturbance	55210	ATAD3A	ORPHA:496790
HP:0002360	Sleep disturbance	57459	GATAD2B	ORPHA:363686
HP:0002360	Sleep disturbance	26137	ZBTB20	OMIM:259050
HP:0002360	Sleep disturbance	4669	NAGLU	OMIM:616491
HP:0002360	Sleep disturbance	4669	NAGLU	OMIM:252920
HP:0002360	Sleep disturbance	53335	BCL11A	OMIM:617101
HP:0002360	Sleep disturbance	6942	TCF20	OMIM:618430
HP:0002360	Sleep disturbance	256471	MFSD8	OMIM:610951
HP:0002360	Sleep disturbance	3662	IRF4	ORPHA:3452
HP:0002360	Sleep disturbance	7443	VRK1	OMIM:607596
HP:0002360	Sleep disturbance	9568	GABBR2	OMIM:617904
HP:0002360	Sleep disturbance	9568	GABBR2	ORPHA:3095
HP:0002360	Sleep disturbance	51085	MLXIPL	OMIM:194050
HP:0002360	Sleep disturbance	2006	ELN	OMIM:194050
HP:0002360	Sleep disturbance	55343	SLC35C1	ORPHA:99843
HP:0002360	Sleep disturbance	6638	SNRPN	ORPHA:98754
HP:0002360	Sleep disturbance	6638	SNRPN	ORPHA:177904
HP:0002360	Sleep disturbance	6638	SNRPN	ORPHA:177901
HP:0002360	Sleep disturbance	4692	NDN	ORPHA:98754
HP:0002360	Sleep disturbance	4692	NDN	ORPHA:177904
HP:0002360	Sleep disturbance	4692	NDN	ORPHA:177901
HP:0002360	Sleep disturbance	54551	MAGEL2	ORPHA:98754
HP:0002360	Sleep disturbance	54551	MAGEL2	OMIM:176270
HP:0002360	Sleep disturbance	54551	MAGEL2	ORPHA:177904
HP:0002360	Sleep disturbance	54551	MAGEL2	ORPHA:177901
HP:0002360	Sleep disturbance	4948	OCA2	ORPHA:98754
HP:0002360	Sleep disturbance	4948	OCA2	ORPHA:177904
HP:0002360	Sleep disturbance	4948	OCA2	ORPHA:177901
HP:0002360	Sleep disturbance	51322	WAC	ORPHA:284169
HP:0002360	Sleep disturbance	51322	WAC	OMIM:616708
HP:0002360	Sleep disturbance	51322	WAC	ORPHA:466950
HP:0002360	Sleep disturbance	7030	TFE3	OMIM:301066
HP:0002360	Sleep disturbance	2562	GABRB3	OMIM:617113
HP:0002360	Sleep disturbance	10735	STAG2	ORPHA:521258
HP:0002360	Sleep disturbance	7994	KAT6A	OMIM:616268
HP:0002360	Sleep disturbance	10165	SLC25A13	ORPHA:247585
HP:0002360	Sleep disturbance	3458	IFNG	ORPHA:805
HP:0002360	Sleep disturbance	7248	TSC1	ORPHA:805
HP:0002360	Sleep disturbance	7249	TSC2	ORPHA:805
HP:0002360	Sleep disturbance	51574	LARP7	ORPHA:319671
HP:0002360	Sleep disturbance	5836	PYGL	ORPHA:369
HP:0002360	Sleep disturbance	55023	PHIP	ORPHA:589905
HP:0002360	Sleep disturbance	1917	EEF1A2	OMIM:616393
HP:0002360	Sleep disturbance	25793	FBXO7	ORPHA:171695
HP:0002360	Sleep disturbance	6622	SNCA	ORPHA:171695
HP:0002360	Sleep disturbance	6622	SNCA	ORPHA:411602
HP:0002360	Sleep disturbance	6622	SNCA	OMIM:168601
HP:0002360	Sleep disturbance	5256	PHKA2	ORPHA:264580
HP:0002360	Sleep disturbance	5261	PHKG2	ORPHA:264580
HP:0002360	Sleep disturbance	10801	SEPTIN9	ORPHA:2901
HP:0002360	Sleep disturbance	22907	DHX30	OMIM:617804
HP:0002360	Sleep disturbance	9894	TELO2	OMIM:616954
HP:0002360	Sleep disturbance	57724	EPG5	ORPHA:1493
HP:0002360	Sleep disturbance	6792	CDKL5	ORPHA:1934
HP:0002360	Sleep disturbance	6792	CDKL5	ORPHA:3095
HP:0002360	Sleep disturbance	3736	KCNA1	ORPHA:1934
HP:0002360	Sleep disturbance	9091	PIGQ	ORPHA:1934
HP:0002360	Sleep disturbance	2775	GNAO1	ORPHA:1934
HP:0002360	Sleep disturbance	81603	TRIM8	ORPHA:1934
HP:0002360	Sleep disturbance	2902	GRIN1	ORPHA:1934
HP:0002360	Sleep disturbance	2902	GRIN1	ORPHA:208447
HP:0002360	Sleep disturbance	79751	SLC25A22	ORPHA:1934
HP:0002360	Sleep disturbance	150094	SIK1	ORPHA:1934
HP:0002360	Sleep disturbance	8573	CASK	ORPHA:1934
HP:0002360	Sleep disturbance	23312	DMXL2	ORPHA:1934
HP:0002360	Sleep disturbance	2917	GRM7	ORPHA:1934
HP:0002360	Sleep disturbance	170302	ARX	ORPHA:1934
HP:0002360	Sleep disturbance	11284	PNKP	ORPHA:1934
HP:0002360	Sleep disturbance	6326	SCN2A	ORPHA:1934
HP:0002360	Sleep disturbance	51227	PIGP	ORPHA:1934
HP:0002360	Sleep disturbance	6324	SCN1B	ORPHA:1934
HP:0002360	Sleep disturbance	4761	NEUROD2	ORPHA:1934
HP:0002360	Sleep disturbance	80816	ASXL3	ORPHA:352577
HP:0002360	Sleep disturbance	10075	HUWE1	OMIM:309590
HP:0002360	Sleep disturbance	6513	SLC2A1	ORPHA:71277
HP:0002360	Sleep disturbance	6513	SLC2A1	OMIM:606777
HP:0002360	Sleep disturbance	1203	CLN5	ORPHA:228360
HP:0002360	Sleep disturbance	22827	PUF60	ORPHA:508498
HP:0002360	Sleep disturbance	6448	SGSH	OMIM:252900
HP:0002360	Sleep disturbance	9759	HDAC4	OMIM:619797
HP:0002360	Sleep disturbance	9759	HDAC4	ORPHA:1001
HP:0002360	Sleep disturbance	9759	HDAC4	OMIM:600430
HP:0002360	Sleep disturbance	1859	DYRK1A	ORPHA:268261
HP:0002360	Sleep disturbance	10785	WDR4	OMIM:618347
HP:0002360	Sleep disturbance	3067	HDC	OMIM:137580
HP:0002360	Sleep disturbance	114798	SLITRK1	OMIM:137580
HP:0002360	Sleep disturbance	85358	SHANK3	OMIM:606232
HP:0002360	Sleep disturbance	85358	SHANK3	ORPHA:48652
HP:0002360	Sleep disturbance	6571	SLC18A2	ORPHA:352649
HP:0002360	Sleep disturbance	6571	SLC18A2	OMIM:618049
HP:0002360	Sleep disturbance	50814	NSDHL	ORPHA:251383
HP:0002360	Sleep disturbance	50814	NSDHL	OMIM:300831
HP:0002360	Sleep disturbance	26115	TANC2	OMIM:618906
HP:0002360	Sleep disturbance	7681	MKRN3	OMIM:176270
HP:0002360	Sleep disturbance	3653	IPW	OMIM:176270
HP:0002360	Sleep disturbance	791114	PWRN1	OMIM:176270
HP:0002360	Sleep disturbance	100033413	SNORD116-1	OMIM:176270
HP:0002360	Sleep disturbance	8924	HERC2	OMIM:176270
HP:0002360	Sleep disturbance	145624	PWAR1	OMIM:176270
HP:0002360	Sleep disturbance	23742	NPAP1	OMIM:176270
HP:0002360	Sleep disturbance	338433	SNORD115-1	OMIM:176270
HP:0002360	Sleep disturbance	26580	BSCL2	ORPHA:363400
HP:0002360	Sleep disturbance	22854	NTNG1	ORPHA:3095
HP:0002360	Sleep disturbance	4204	MECP2	ORPHA:3095
HP:0002360	Sleep disturbance	4204	MECP2	ORPHA:778
HP:0002360	Sleep disturbance	4204	MECP2	ORPHA:3077
HP:0002360	Sleep disturbance	4204	MECP2	OMIM:300260
HP:0002360	Sleep disturbance	8243	SMC1A	ORPHA:3095
HP:0002360	Sleep disturbance	8243	SMC1A	ORPHA:199
HP:0002360	Sleep disturbance	26275	HIBCH	ORPHA:88639
HP:0002360	Sleep disturbance	79868	ALG13	OMIM:300884
HP:0002360	Sleep disturbance	29998	BICRA	OMIM:619325
HP:0002360	Sleep disturbance	112939	NACC1	ORPHA:500545
HP:0002360	Sleep disturbance	112939	NACC1	OMIM:617393
HP:0002360	Sleep disturbance	1644	DDC	OMIM:608643
HP:0002360	Sleep disturbance	11152	WDR45	ORPHA:329284
HP:0002360	Sleep disturbance	443	ASPA	ORPHA:314911
HP:0002360	Sleep disturbance	4297	KMT2A	OMIM:605130
HP:0002360	Sleep disturbance	2332	FMR1	ORPHA:449291
HP:0002360	Sleep disturbance	6601	SMARCC2	OMIM:618362
HP:0002360	Sleep disturbance	8831	SYNGAP1	ORPHA:544254
HP:0002360	Sleep disturbance	8120	AP3B2	OMIM:617276
HP:0002360	Sleep disturbance	201163	FLCN	OMIM:610883
HP:0002360	Sleep disturbance	2629	GBA1	ORPHA:411602
HP:0002360	Sleep disturbance	2629	GBA1	OMIM:168600
HP:0002360	Sleep disturbance	23317	DNAJC13	ORPHA:411602
HP:0002360	Sleep disturbance	1981	EIF4G1	ORPHA:411602
HP:0002360	Sleep disturbance	55737	VPS35	ORPHA:411602
HP:0002360	Sleep disturbance	120892	LRRK2	ORPHA:411602
HP:0002360	Sleep disturbance	26058	GIGYF2	ORPHA:411602
HP:0002360	Sleep disturbance	1201	CLN3	ORPHA:228346
HP:0002360	Sleep disturbance	23111	SPART	ORPHA:101000
HP:0002360	Sleep disturbance	2743	GLRB	ORPHA:3197
HP:0002360	Sleep disturbance	2741	GLRA1	ORPHA:3197
HP:0002360	Sleep disturbance	10243	GPHN	ORPHA:3197
HP:0002360	Sleep disturbance	84896	ATAD1	ORPHA:3197
HP:0002360	Sleep disturbance	9152	SLC6A5	ORPHA:3197
HP:0002360	Sleep disturbance	1760	DMPK	ORPHA:589821
HP:0002360	Sleep disturbance	10524	KAT5	OMIM:619103
HP:0002360	Sleep disturbance	2009	EML1	OMIM:600348
HP:0002360	Sleep disturbance	8802	SUCLG1	ORPHA:17
HP:0002360	Sleep disturbance	80185	TTI2	OMIM:615541
HP:0002360	Sleep disturbance	80185	TTI2	ORPHA:391307
HP:0002360	Sleep disturbance	26040	SETBP1	OMIM:616078
HP:0002360	Sleep disturbance	23152	CIC	OMIM:617600
HP:0002360	Sleep disturbance	128637	TBC1D20	OMIM:615663
HP:0002360	Sleep disturbance	6304	SATB1	OMIM:619228
HP:0002360	Sleep disturbance	6304	SATB1	OMIM:619229
HP:0002360	Sleep disturbance	4287	ATXN3	ORPHA:276238
HP:0002360	Sleep disturbance	4287	ATXN3	ORPHA:276244
HP:0002360	Sleep disturbance	4287	ATXN3	ORPHA:276241
HP:0002360	Sleep disturbance	4763	NF1	ORPHA:97685
HP:0002360	Sleep disturbance	6697	SPR	OMIM:612716
HP:0002360	Sleep disturbance	6697	SPR	ORPHA:70594
HP:0002360	Sleep disturbance	23476	BRD4	ORPHA:199
HP:0002360	Sleep disturbance	9126	SMC3	ORPHA:199
HP:0002360	Sleep disturbance	25836	NIPBL	ORPHA:199
HP:0002360	Sleep disturbance	55869	HDAC8	ORPHA:199
HP:0002360	Sleep disturbance	5885	RAD21	ORPHA:199
HP:0002360	Sleep disturbance	7874	USP7	ORPHA:500055
HP:0002360	Sleep disturbance	10664	CTCF	ORPHA:363611
HP:0002360	Sleep disturbance	11019	LIAS	OMIM:614462
HP:0002360	Sleep disturbance	2892	GRIA3	ORPHA:364028
HP:0002360	Sleep disturbance	6711	SPTBN1	OMIM:619475
HP:0002360	Sleep disturbance	2643	GCH1	ORPHA:98808
HP:0002360	Sleep disturbance	4929	NR4A2	ORPHA:98808
HP:0002360	Sleep disturbance	4929	NR4A2	OMIM:168600
HP:0002360	Sleep disturbance	3615	IMPDH2	ORPHA:98808
HP:0002360	Sleep disturbance	51091	SEPSECS	OMIM:613811
HP:0002360	Sleep disturbance	51091	SEPSECS	ORPHA:2524
HP:0002360	Sleep disturbance	259232	NALCN	ORPHA:371364
HP:0002360	Sleep disturbance	285175	UNC80	ORPHA:371364
HP:0002360	Sleep disturbance	3425	IDUA	ORPHA:93473
HP:0002360	Sleep disturbance	25914	RTTN	ORPHA:468631
HP:0002360	Sleep disturbance	378884	NHLRC1	ORPHA:501
HP:0002360	Sleep disturbance	7957	EPM2A	ORPHA:501
HP:0002360	Sleep disturbance	6925	TCF4	ORPHA:2896
HP:0002360	Sleep disturbance	11198	SUPT16H	OMIM:619480
HP:0002360	Sleep disturbance	1457	CSNK2A1	OMIM:617062
HP:0002360	Sleep disturbance	3594	IL12RB1	ORPHA:186
HP:0002360	Sleep disturbance	23534	TNPO3	ORPHA:186
HP:0002360	Sleep disturbance	3592	IL12A	ORPHA:186
HP:0002360	Sleep disturbance	6689	SPIB	ORPHA:186
HP:0002360	Sleep disturbance	5450	POU2AF1	ORPHA:186
HP:0002360	Sleep disturbance	9966	TNFSF15	ORPHA:186
HP:0002360	Sleep disturbance	79258	MMEL1	ORPHA:186
HP:0002360	Sleep disturbance	3663	IRF5	ORPHA:186
HP:0002360	Sleep disturbance	100147744	RNU7-1	OMIM:619487
HP:0002360	Sleep disturbance	2670	GFAP	ORPHA:363722
HP:0002360	Sleep disturbance	6857	SYT1	ORPHA:522077
HP:0002360	Sleep disturbance	7204	TRIO	ORPHA:476126
HP:0002360	Sleep disturbance	23112	TNRC6B	OMIM:619243
HP:0002360	Sleep disturbance	91875	TTC5	OMIM:619244
HP:0002360	Sleep disturbance	283989	TSEN54	ORPHA:2524
HP:0002360	Sleep disturbance	116461	TSEN15	ORPHA:2524
HP:0002360	Sleep disturbance	79042	TSEN34	ORPHA:2524
HP:0002360	Sleep disturbance	80746	TSEN2	ORPHA:2524
HP:0002360	Sleep disturbance	2890	GRIA1	OMIM:619927
HP:0002360	Sleep disturbance	2890	GRIA1	OMIM:619931
HP:0002360	Sleep disturbance	118924	FRA10AC1	OMIM:620113
HP:0002360	Sleep disturbance	1512	CTSH	ORPHA:2073
HP:0002360	Sleep disturbance	5032	P2RY11	ORPHA:2073
HP:0002360	Sleep disturbance	4340	MOG	ORPHA:2073
HP:0002360	Sleep disturbance	7292	TNFSF4	ORPHA:2073
HP:0002360	Sleep disturbance	5879	RAC1	OMIM:617751
HP:0002360	Sleep disturbance	5538	PPT1	OMIM:256730
HP:0002360	Sleep disturbance	5455	POU3F3	OMIM:618604
HP:0002360	Sleep disturbance	9439	MED23	OMIM:614249
HP:0002360	Sleep disturbance	5430	POLR2A	OMIM:618603
HP:0002360	Sleep disturbance	138050	HGSNAT	OMIM:252930
HP:0002360	Sleep disturbance	4693	NDP	ORPHA:649
HP:0002360	Sleep disturbance	10079	ATP9A	OMIM:620242
HP:0002360	Sleep disturbance	8665	EIF3F	OMIM:618295
HP:0002360	Sleep disturbance	3832	KIF11	OMIM:152950
HP:0002360	Sleep disturbance	284361	EMC10	OMIM:619264
HP:0002360	Sleep disturbance	55367	PIDD1	OMIM:619827
HP:0002360	Sleep disturbance	2747	GLUD2	OMIM:168600
HP:0002360	Sleep disturbance	126	ADH1C	OMIM:168600
HP:0002360	Sleep disturbance	4137	MAPT	OMIM:168600
HP:0002360	Sleep disturbance	6908	TBP	OMIM:168600
HP:0002360	Sleep disturbance	4576	MT-TT	OMIM:168600
HP:0002360	Sleep disturbance	9627	SNCAIP	OMIM:168600
HP:0002360	Sleep disturbance	6311	ATXN2	OMIM:168600
HP:0002360	Sleep disturbance	6315	ATXN8OS	OMIM:168600
HP:0002360	Sleep disturbance	2260	FGFR1	ORPHA:3157
HP:0002360	Sleep disturbance	128674	PROKR2	ORPHA:3157
HP:0002360	Sleep disturbance	6657	SOX2	ORPHA:3157
HP:0002360	Sleep disturbance	6658	SOX3	ORPHA:3157
HP:0002360	Sleep disturbance	9915	ARNT2	ORPHA:3157
HP:0002360	Sleep disturbance	8820	HESX1	ORPHA:3157
HP:0002360	Sleep disturbance	5015	OTX2	ORPHA:3157
HP:0002360	Sleep disturbance	5981	RFC1	OMIM:614575
HP:0002360	Sleep disturbance	27235	COQ2	ORPHA:227510
HP:0002360	Sleep disturbance	27235	COQ2	ORPHA:98933
HP:0002360	Sleep disturbance	1786	DNMT1	OMIM:604121
HP:0002360	Sleep disturbance	57003	CCDC47	OMIM:618268
HP:0002360	Sleep disturbance	1763	DNA2	OMIM:615156
HP:0002360	Sleep disturbance	1763	DNA2	ORPHA:352470
HP:0002360	Sleep disturbance	51604	PIGT	ORPHA:369837
HP:0002360	Sleep disturbance	1387	CREBBP	OMIM:180849
HP:0002360	Sleep disturbance	1387	CREBBP	ORPHA:353281
HP:0002360	Sleep disturbance	1387	CREBBP	ORPHA:353277
HP:0002360	Sleep disturbance	2033	EP300	OMIM:180849
HP:0002360	Sleep disturbance	2033	EP300	ORPHA:353284
HP:0002360	Sleep disturbance	59341	TRPV4	OMIM:606071
HP:0002360	Sleep disturbance	7015	TERT	OMIM:614742
HP:0002360	Sleep disturbance	775	CACNA1C	OMIM:620029
HP:0002360	Sleep disturbance	8087	FXR1	OMIM:618822
HP:0002360	Sleep disturbance	8087	FXR1	OMIM:618823
HP:0002360	Sleep disturbance	1756	DMD	OMIM:310200
HP:0002360	Sleep disturbance	781	CACNA2D1	OMIM:620149
HP:0002360	Sleep disturbance	10128	LRPPRC	ORPHA:70472
HP:0002360	Sleep disturbance	2887	GRB10	ORPHA:96182
HP:0002360	Sleep disturbance	5575	PRKAR1B	OMIM:619680
HP:0002360	Sleep disturbance	6452	SH3BP2	ORPHA:184
HP:0002360	Sleep disturbance	4854	NOTCH3	OMIM:130720
HP:0002360	Sleep disturbance	7750	ZMYM2	OMIM:619522
HP:0002360	Sleep disturbance	9578	CDC42BPB	OMIM:619841
HP:0002360	Sleep disturbance	283489	CHAMP1	OMIM:616579
HP:0002360	Sleep disturbance	60482	SLC5A7	ORPHA:98914
HP:0002360	Sleep disturbance	4649	MYO9A	ORPHA:98914
HP:0002360	Sleep disturbance	1305	COL13A1	ORPHA:98914
HP:0002360	Sleep disturbance	1103	CHAT	ORPHA:98914
HP:0002360	Sleep disturbance	6576	SLC25A1	ORPHA:98914
HP:0002360	Sleep disturbance	6843	VAMP1	ORPHA:98914
HP:0002360	Sleep disturbance	375790	AGRN	ORPHA:98914
HP:0002360	Sleep disturbance	127833	SYT2	ORPHA:98914
HP:0002360	Sleep disturbance	6572	SLC18A3	ORPHA:98914
HP:0002360	Sleep disturbance	6616	SNAP25	ORPHA:98914
HP:0002360	Sleep disturbance	55768	NGLY1	ORPHA:404454
HP:0002360	Sleep disturbance	79158	GNPTAB	ORPHA:576
HP:0002360	Sleep disturbance	23299	BICD2	OMIM:615290
HP:0002360	Sleep disturbance	6497	SKI	OMIM:182212
HP:0002360	Sleep disturbance	4841	NONO	ORPHA:466791
HP:0002360	Sleep disturbance	4784	NFIX	OMIM:602535
HP:0002360	Sleep disturbance	8888	MCM3AP	OMIM:618124
HP:0002360	Sleep disturbance	650	BMP2	OMIM:617877
HP:0002360	Sleep disturbance	2990	GUSB	OMIM:253220
HP:0002360	Sleep disturbance	23219	FBXO28	OMIM:619777
HP:0002360	Sleep disturbance	1513	CTSK	ORPHA:763
HP:0002360	Sleep disturbance	2261	FGFR3	ORPHA:15
HP:0002360	Sleep disturbance	7703	PCGF2	OMIM:618371
HP:0002360	Sleep disturbance	9401	RECQL4	OMIM:218600
HP:0002360	Sleep disturbance	372	ARCN1	OMIM:617164
HP:0002360	Sleep disturbance	1822	ATN1	OMIM:618494
HP:0002360	Sleep disturbance	1642	DDB1	OMIM:619426
HP:0002360	Sleep disturbance	55770	EXOC2	OMIM:619306
HP:0002360	Sleep disturbance	9230	RAB11B	OMIM:617807
HP:0002360	Sleep disturbance	3265	HRAS	OMIM:218040
HP:0002360	Sleep disturbance	760	CA2	ORPHA:2785
HP:0002360	Sleep disturbance	8864	PER2	OMIM:604348
HP:0002360	Sleep disturbance	348	APOE	OMIM:606889
HP:0002360	Sleep disturbance	5664	PSEN2	OMIM:606889
HP:0002360	Sleep disturbance	56992	KIF15	ORPHA:261323
HP:0002360	Sleep disturbance	6872	TAF1	OMIM:300966
HP:0002360	Sleep disturbance	28514	DLL1	ORPHA:220386
HP:0002360	Sleep disturbance	28514	DLL1	ORPHA:93926
HP:0002360	Sleep disturbance	28514	DLL1	ORPHA:93924
HP:0002360	Sleep disturbance	28514	DLL1	ORPHA:93925
HP:0002360	Sleep disturbance	2253	FGF8	ORPHA:220386
HP:0002360	Sleep disturbance	2253	FGF8	ORPHA:93926
HP:0002360	Sleep disturbance	2253	FGF8	ORPHA:93924
HP:0002360	Sleep disturbance	2253	FGF8	ORPHA:93925
HP:0002360	Sleep disturbance	6496	SIX3	ORPHA:220386
HP:0002360	Sleep disturbance	6496	SIX3	ORPHA:93926
HP:0002360	Sleep disturbance	6496	SIX3	ORPHA:93924
HP:0002360	Sleep disturbance	6496	SIX3	ORPHA:93925
HP:0002360	Sleep disturbance	7050	TGIF1	ORPHA:220386
HP:0002360	Sleep disturbance	7050	TGIF1	ORPHA:93926
HP:0002360	Sleep disturbance	7050	TGIF1	ORPHA:93924
HP:0002360	Sleep disturbance	7050	TGIF1	ORPHA:93925
HP:0002360	Sleep disturbance	4838	NODAL	ORPHA:220386
HP:0002360	Sleep disturbance	4838	NODAL	ORPHA:93926
HP:0002360	Sleep disturbance	4838	NODAL	ORPHA:93924
HP:0002360	Sleep disturbance	4838	NODAL	ORPHA:93925
HP:0002360	Sleep disturbance	6469	SHH	ORPHA:220386
HP:0002360	Sleep disturbance	6469	SHH	ORPHA:93926
HP:0002360	Sleep disturbance	6469	SHH	ORPHA:93924
HP:0002360	Sleep disturbance	6469	SHH	ORPHA:93925
HP:0002360	Sleep disturbance	7546	ZIC2	ORPHA:220386
HP:0002360	Sleep disturbance	7546	ZIC2	ORPHA:93926
HP:0002360	Sleep disturbance	7546	ZIC2	ORPHA:93924
HP:0002360	Sleep disturbance	7546	ZIC2	ORPHA:93925
HP:0002360	Sleep disturbance	6491	STIL	ORPHA:220386
HP:0002360	Sleep disturbance	6491	STIL	ORPHA:93926
HP:0002360	Sleep disturbance	6491	STIL	ORPHA:93924
HP:0002360	Sleep disturbance	6491	STIL	ORPHA:93925
HP:0002360	Sleep disturbance	2619	GAS1	ORPHA:220386
HP:0002360	Sleep disturbance	2619	GAS1	ORPHA:93926
HP:0002360	Sleep disturbance	2619	GAS1	ORPHA:93924
HP:0002360	Sleep disturbance	2619	GAS1	ORPHA:93925
HP:0002360	Sleep disturbance	84976	DISP1	ORPHA:220386
HP:0002360	Sleep disturbance	84976	DISP1	ORPHA:93926
HP:0002360	Sleep disturbance	84976	DISP1	ORPHA:93924
HP:0002360	Sleep disturbance	84976	DISP1	ORPHA:93925
HP:0002360	Sleep disturbance	2736	GLI2	ORPHA:220386
HP:0002360	Sleep disturbance	2736	GLI2	ORPHA:93926
HP:0002360	Sleep disturbance	2736	GLI2	ORPHA:93924
HP:0002360	Sleep disturbance	2736	GLI2	ORPHA:93925
HP:0002360	Sleep disturbance	8928	FOXH1	ORPHA:220386
HP:0002360	Sleep disturbance	8928	FOXH1	ORPHA:93926
HP:0002360	Sleep disturbance	8928	FOXH1	ORPHA:93924
HP:0002360	Sleep disturbance	8928	FOXH1	ORPHA:93925
HP:0002360	Sleep disturbance	5727	PTCH1	ORPHA:220386
HP:0002360	Sleep disturbance	5727	PTCH1	ORPHA:93926
HP:0002360	Sleep disturbance	5727	PTCH1	ORPHA:93924
HP:0002360	Sleep disturbance	5727	PTCH1	ORPHA:93925
HP:0002360	Sleep disturbance	50937	CDON	ORPHA:220386
HP:0002360	Sleep disturbance	50937	CDON	ORPHA:93926
HP:0002360	Sleep disturbance	50937	CDON	ORPHA:93924
HP:0002360	Sleep disturbance	50937	CDON	ORPHA:93925
HP:0002360	Sleep disturbance	815	CAMK2A	OMIM:617798
HP:0002360	Sleep disturbance	1453	CSNK1D	OMIM:615224
HP:0002360	Sleep disturbance	23007	PLCH1	ORPHA:93925
HP:0002360	Sleep disturbance	7337	UBE3A	ORPHA:411515
HP:0002360	Sleep disturbance	7337	UBE3A	OMIM:105830
HP:0002360	Sleep disturbance	57194	ATP10A	ORPHA:411515
HP:0002360	Sleep disturbance	26224	FBXL3	OMIM:606220
HP:0002360	Sleep disturbance	7291	TWIST1	ORPHA:794
HP:0002360	Sleep disturbance	2263	FGFR2	ORPHA:794
HP:0002360	Sleep disturbance	2263	FGFR2	OMIM:123500
HP:0002360	Sleep disturbance	2615	LRRC32	OMIM:619074
HP:0002360	Sleep disturbance	6197	RPS6KA3	ORPHA:192
HP:0002360	Sleep disturbance	54892	NCAPG2	OMIM:618460
HP:0002360	Sleep disturbance	2132	EXT2	OMIM:616682
HP:0002360	Sleep disturbance	26005	C2CD3	ORPHA:434179
HP:0002360	Sleep disturbance	27125	AFF4	OMIM:616368
HP:0002360	Sleep disturbance	27125	AFF4	ORPHA:444077
HP:0002360	Sleep disturbance	4720	NDUFS2	OMIM:618228
HP:0002360	Sleep disturbance	10060	ABCC9	OMIM:619719
HP:0002360	Sleep disturbance	8405	SPOP	OMIM:618829
HP:0002360	Sleep disturbance	411	ARSB	OMIM:253200
HP:0002360	Sleep disturbance	91942	NDUFAF2	OMIM:618233
HP:0002360	Sleep disturbance	2934	GSN	ORPHA:85448
HP:0002360	Sleep disturbance	65993	MRPS34	OMIM:617664
HP:0002360	Sleep disturbance	9442	MED27	OMIM:619286
HP:0002360	Sleep disturbance	473	RERE	OMIM:616975
HP:0002360	Sleep disturbance	9702	CEP57	OMIM:614114
HP:0002360	Sleep disturbance	477	ATP1A2	OMIM:619605
HP:0002360	Sleep disturbance	8292	COLQ	ORPHA:98915
HP:0002360	Sleep disturbance	3913	LAMB2	ORPHA:98915
HP:0002360	Sleep disturbance	51341	ZBTB7A	OMIM:619769
HP:0002360	Sleep disturbance	403	ARL3	OMIM:618161
HP:0002360	Sleep disturbance	7259	TSPYL1	ORPHA:168593
HP:0002360	Sleep disturbance	10020	GNE	OMIM:269921
HP:0002360	Sleep disturbance	10020	GNE	ORPHA:3166
HP:0002360	Sleep disturbance	738	VPS51	OMIM:618606
HP:0002360	Sleep disturbance	27286	SRPX2	ORPHA:1945
HP:0002360	Sleep disturbance	2566	GABRG2	ORPHA:1945
HP:0002360	Sleep disturbance	1281	COL3A1	ORPHA:286
HP:0002360	Sleep disturbance	54681	P4HTM	OMIM:618493
HP:0002360	Sleep disturbance	860	RUNX2	ORPHA:1452
HP:0002360	Sleep disturbance	6647	SOD1	OMIM:105400
HP:0002360	Sleep disturbance	5630	PRPH	OMIM:105400
HP:0002360	Sleep disturbance	4744	NEFH	OMIM:105400
HP:0002360	Sleep disturbance	54496	PRMT7	ORPHA:464288
HP:0002360	Sleep disturbance	1801	DPH1	ORPHA:459061
HP:0002360	Sleep disturbance	4054	LTBP3	OMIM:617809
HP:0002360	Sleep disturbance	22943	DKK1	ORPHA:268882
HP:0002360	Sleep disturbance	133686	NADK2	ORPHA:431361
HP:0002360	Sleep disturbance	8621	CDK13	OMIM:617360
HP:0002360	Sleep disturbance	8911	CACNA1I	OMIM:620114
HP:0002360	Sleep disturbance	5979	RET	ORPHA:99803
HP:0002360	Sleep disturbance	429	ASCL1	ORPHA:99803
HP:0002360	Sleep disturbance	8929	PHOX2B	ORPHA:99803
HP:0002360	Sleep disturbance	51142	CHCHD2	OMIM:616710
HP:0002360	Sleep disturbance	2512	FTL	OMIM:615604
HP:0002360	Sleep disturbance	54832	VPS13C	ORPHA:2828
HP:0002360	Sleep disturbance	11315	PARK7	ORPHA:2828
HP:0002360	Sleep disturbance	7345	UCHL1	ORPHA:2828
HP:0002360	Sleep disturbance	27429	HTRA2	ORPHA:2828
HP:0002360	Sleep disturbance	9829	DNAJC6	ORPHA:2828
HP:0002360	Sleep disturbance	5420	PODXL	ORPHA:2828
HP:0002360	Sleep disturbance	65018	PINK1	ORPHA:2828
HP:0002360	Sleep disturbance	8867	SYNJ1	ORPHA:2828
HP:0002360	Sleep disturbance	5071	PRKN	ORPHA:2828
HP:0002360	Sleep disturbance	4747	NEFL	ORPHA:101085
HP:0002360	Sleep disturbance	9927	MFN2	ORPHA:99947
HP:0002360	Sleep disturbance	6314	ATXN7	ORPHA:94147
HP:0002360	Sleep disturbance	6492	SIM1	ORPHA:398079
HP:0002360	Sleep disturbance	1137	CHRNA4	ORPHA:98784
HP:0002360	Sleep disturbance	1135	CHRNA2	ORPHA:98784
HP:0002360	Sleep disturbance	57010	CABP4	ORPHA:98784
HP:0002360	Sleep disturbance	1141	CHRNB2	ORPHA:98784
HP:0002360	Sleep disturbance	57582	KCNT1	ORPHA:98784
HP:0002360	Sleep disturbance	1392	CRH	ORPHA:98784
HP:0002360	Sleep disturbance	9681	DEPDC5	ORPHA:98784
HP:0002360	Sleep disturbance	27245	AHDC1	ORPHA:412069
HP:0002360	Sleep disturbance	27245	AHDC1	OMIM:615829
HP:0002360	Sleep disturbance	5332	PLCB4	OMIM:614669
HP:0002360	Sleep disturbance	5332	PLCB4	ORPHA:137888
HP:0002360	Sleep disturbance	1906	EDN1	ORPHA:137888
HP:0002360	Sleep disturbance	2773	GNAI3	ORPHA:137888
HP:0002360	Sleep disturbance	2773	GNAI3	OMIM:602483
HP:0002360	Sleep disturbance	341208	HEPHL1	OMIM:261990
HP:0002360	Sleep disturbance	83550	GPR101	OMIM:300942
HP:0002360	Sleep disturbance	6608	SMO	OMIM:241800
HP:0002360	Sleep disturbance	123263	MTFMT	OMIM:614947
HP:0002360	Sleep disturbance	51111	KMT5B	OMIM:617788
HP:0002360	Sleep disturbance	1407	CRY1	OMIM:614163
HP:0002360	Sleep disturbance	2799	GNS	OMIM:252940
HP:0002360	Sleep disturbance	10743	RAI1	OMIM:182290
HP:0002360	Sleep disturbance	8914	TIMELESS	OMIM:620015
HP:0002360	Sleep disturbance	8863	PER3	OMIM:616882
HP:0002360	Sleep disturbance	153	ADRB1	OMIM:618591
HP:0002360	Sleep disturbance	5138	PDE2A	OMIM:619150
HP:0002360	Sleep disturbance	6515	SLC2A3	ORPHA:399
HP:0002360	Sleep disturbance	2590	GALNT2	OMIM:618885
HP:0002360	Sleep disturbance	10381	TUBB3	ORPHA:300570
HP:0002360	Sleep disturbance	162417	NAGS	ORPHA:927
HP:0002360	Sleep disturbance	6804	STX1A	ORPHA:904
HP:0002360	Sleep disturbance	7461	CLIP2	ORPHA:904
HP:0002360	Sleep disturbance	84277	DNAJC30	ORPHA:904
HP:0002360	Sleep disturbance	8468	FKBP6	ORPHA:904
HP:0002360	Sleep disturbance	5982	RFC2	ORPHA:904
HP:0002360	Sleep disturbance	2969	GTF2I	ORPHA:904
HP:0002360	Sleep disturbance	3984	LIMK1	ORPHA:904
HP:0002360	Sleep disturbance	9569	GTF2IRD1	ORPHA:904
HP:0002360	Sleep disturbance	155382	VPS37D	ORPHA:904
HP:0002360	Sleep disturbance	155368	METTL27	ORPHA:904
HP:0002360	Sleep disturbance	114049	BUD23	ORPHA:904
HP:0002360	Sleep disturbance	7458	EIF4H	ORPHA:904
HP:0002360	Sleep disturbance	84163	GTF2IRD2	ORPHA:904
HP:0002360	Sleep disturbance	9275	BCL7B	ORPHA:904
HP:0002360	Sleep disturbance	26608	TBL2	ORPHA:904
HP:0002360	Sleep disturbance	653361	NCF1	ORPHA:904
HP:0002360	Sleep disturbance	135886	TMEM270	ORPHA:904
HP:0002360	Sleep disturbance	9031	BAZ1B	ORPHA:904
HP:0002360	Sleep disturbance	4221	MEN1	ORPHA:97279
HP:0002360	Sleep disturbance	1371	CPOX	OMIM:121300
HP:0002360	Sleep disturbance	10273	STUB1	OMIM:618093
HP:0002360	Sleep disturbance	3074	HEXB	ORPHA:309162
HP:0002360	Sleep disturbance	5205	ATP8B1	ORPHA:69665
HP:0002360	Sleep disturbance	8647	ABCB11	ORPHA:69665
HP:0002360	Sleep disturbance	5244	ABCB4	ORPHA:69665
HP:0002360	Sleep disturbance	9971	NR1H4	ORPHA:69665
HP:0002360	Sleep disturbance	8996	NOL3	OMIM:614937
HP:0002360	Sleep disturbance	3145	HMBS	ORPHA:79276
HP:0002360	Sleep disturbance	540	ATP7B	OMIM:277900
HP:0002360	Sleep disturbance	1188	CLCNKB	ORPHA:358
HP:0002360	Sleep disturbance	6559	SLC12A3	ORPHA:358
HP:0002360	Sleep disturbance	10667	FARS2	ORPHA:466722
HP:0002360	Sleep disturbance	57479	PRR12	OMIM:619539
HP:0002360	Sleep disturbance	50506	DUOX2	ORPHA:226316
HP:0002360	Sleep disturbance	7849	PAX8	ORPHA:95713
HP:0002360	Sleep disturbance	7849	PAX8	ORPHA:95712
HP:0002360	Sleep disturbance	1482	NKX2-5	ORPHA:95713
HP:0002360	Sleep disturbance	1482	NKX2-5	ORPHA:95712
HP:0002360	Sleep disturbance	2304	FOXE1	ORPHA:95713
HP:0002360	Sleep disturbance	5172	SLC26A4	ORPHA:95713
HP:0002360	Sleep disturbance	51567	TDP2	OMIM:616949
HP:0002360	Sleep disturbance	9049	AIP	ORPHA:963
HP:0002361	Psychomotor deterioration	3073	HEXA	OMIM:272800
HP:0002361	Psychomotor deterioration	22796	COG2	ORPHA:435934
HP:0002361	Psychomotor deterioration	5354	PLP1	OMIM:312080
HP:0002361	Psychomotor deterioration	4297	KMT2A	ORPHA:319182
HP:0002361	Psychomotor deterioration	23545	ATP6V0A2	ORPHA:357074
HP:0002361	Psychomotor deterioration	523	ATP6V1A	ORPHA:357074
HP:0002361	Psychomotor deterioration	529	ATP6V1E1	ORPHA:357074
HP:0002361	Psychomotor deterioration	5538	PPT1	OMIM:256730
HP:0002361	Psychomotor deterioration	50484	RRM2B	ORPHA:329336
HP:0002361	Psychomotor deterioration	246243	RNASEH1	ORPHA:329336
HP:0002361	Psychomotor deterioration	1201	CLN3	OMIM:204200
HP:0002361	Psychomotor deterioration	6334	SCN8A	ORPHA:306
HP:0002361	Psychomotor deterioration	6326	SCN2A	ORPHA:306
HP:0002361	Psychomotor deterioration	112476	PRRT2	ORPHA:306
HP:0002361	Psychomotor deterioration	3785	KCNQ2	ORPHA:306
HP:0002361	Psychomotor deterioration	3786	KCNQ3	ORPHA:306
HP:0002361	Psychomotor deterioration	2581	GALC	ORPHA:206436
HP:0002361	Psychomotor deterioration	5660	PSAP	ORPHA:206436
HP:0002361	Psychomotor deterioration	8398	PLA2G6	ORPHA:35069
HP:0002361	Psychomotor deterioration	2584	GALK1	ORPHA:79237
HP:0002362	Shuffling gait	1436	CSF1R	OMIM:221820
HP:0002362	Shuffling gait	4204	MECP2	OMIM:300055
HP:0002362	Shuffling gait	4204	MECP2	ORPHA:3077
HP:0002362	Shuffling gait	8242	KDM5C	OMIM:300534
HP:0002362	Shuffling gait	6571	SLC18A2	OMIM:618049
HP:0002362	Shuffling gait	6571	SLC18A2	ORPHA:352649
HP:0002362	Shuffling gait	8867	SYNJ1	OMIM:615530
HP:0002362	Shuffling gait	8867	SYNJ1	ORPHA:391411
HP:0002362	Shuffling gait	2629	GBA1	ORPHA:411602
HP:0002362	Shuffling gait	23317	DNAJC13	ORPHA:411602
HP:0002362	Shuffling gait	1981	EIF4G1	ORPHA:411602
HP:0002362	Shuffling gait	55737	VPS35	ORPHA:411602
HP:0002362	Shuffling gait	120892	LRRK2	ORPHA:411602
HP:0002362	Shuffling gait	26058	GIGYF2	ORPHA:411602
HP:0002362	Shuffling gait	6622	SNCA	ORPHA:411602
HP:0002362	Shuffling gait	6622	SNCA	ORPHA:171695
HP:0002362	Shuffling gait	6622	SNCA	OMIM:168601
HP:0002362	Shuffling gait	1201	CLN3	ORPHA:228346
HP:0002362	Shuffling gait	116442	RAB39B	OMIM:311510
HP:0002362	Shuffling gait	6872	TAF1	ORPHA:53351
HP:0002362	Shuffling gait	9829	DNAJC6	ORPHA:391411
HP:0002362	Shuffling gait	9829	DNAJC6	OMIM:615528
HP:0002362	Shuffling gait	5420	PODXL	ORPHA:391411
HP:0002362	Shuffling gait	1678	TIMM8A	ORPHA:52368
HP:0002362	Shuffling gait	4000	LMNA	ORPHA:740
HP:0002362	Shuffling gait	10269	ZMPSTE24	ORPHA:740
HP:0002362	Shuffling gait	7084	TK2	ORPHA:254886
HP:0002362	Shuffling gait	5428	POLG	ORPHA:254886
HP:0002362	Shuffling gait	25793	FBXO7	ORPHA:171695
HP:0002362	Shuffling gait	5575	PRKAR1B	ORPHA:412066
HP:0002362	Shuffling gait	54664	TMEM106B	OMIM:617964
HP:0002362	Shuffling gait	6444	SGCD	ORPHA:219
HP:0002362	Shuffling gait	3897	L1CAM	OMIM:303350
HP:0002362	Shuffling gait	8260	NAA10	ORPHA:276432
HP:0002362	Shuffling gait	4137	MAPT	ORPHA:240094
HP:0002362	Shuffling gait	4137	MAPT	OMIM:168600
HP:0002362	Shuffling gait	2747	GLUD2	OMIM:168600
HP:0002362	Shuffling gait	126	ADH1C	OMIM:168600
HP:0002362	Shuffling gait	4929	NR4A2	OMIM:168600
HP:0002362	Shuffling gait	6908	TBP	OMIM:168600
HP:0002362	Shuffling gait	4576	MT-TT	OMIM:168600
HP:0002362	Shuffling gait	9627	SNCAIP	OMIM:168600
HP:0002362	Shuffling gait	6311	ATXN2	OMIM:168600
HP:0002362	Shuffling gait	6315	ATXN8OS	OMIM:168600
HP:0002362	Shuffling gait	1639	DCTN1	OMIM:168605
HP:0002362	Shuffling gait	59341	TRPV4	ORPHA:86820
HP:0002362	Shuffling gait	1280	COL2A1	ORPHA:86820
HP:0002363	Abnormal brainstem morphology	2260	FGFR1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	2260	FGFR1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	28514	DLL1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	28514	DLL1	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	28514	DLL1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	28514	DLL1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	10735	STAG2	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	10735	STAG2	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	2253	FGF8	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	2253	FGF8	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	2253	FGF8	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	2253	FGF8	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	8243	SMC1A	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	6496	SIX3	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	6496	SIX3	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	6496	SIX3	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	6496	SIX3	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	7050	TGIF1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	7050	TGIF1	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	7050	TGIF1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	7050	TGIF1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	4838	NODAL	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	4838	NODAL	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	4838	NODAL	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	4838	NODAL	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	6469	SHH	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	6469	SHH	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	6469	SHH	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	6469	SHH	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	7546	ZIC2	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	7546	ZIC2	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	7546	ZIC2	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	7546	ZIC2	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	6491	STIL	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	6491	STIL	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	6491	STIL	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	6491	STIL	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	2619	GAS1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	2619	GAS1	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	2619	GAS1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	2619	GAS1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	84976	DISP1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	84976	DISP1	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	84976	DISP1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	84976	DISP1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	2736	GLI2	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	2736	GLI2	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	2736	GLI2	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	2736	GLI2	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	8928	FOXH1	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	8928	FOXH1	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	8928	FOXH1	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	8928	FOXH1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	50937	CDON	ORPHA:220386
HP:0002363	Abnormal brainstem morphology	50937	CDON	ORPHA:93926
HP:0002363	Abnormal brainstem morphology	50937	CDON	ORPHA:93924
HP:0002363	Abnormal brainstem morphology	50937	CDON	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	8050	PDHX	ORPHA:255182
HP:0002363	Abnormal brainstem morphology	2332	FMR1	ORPHA:93256
HP:0002363	Abnormal brainstem morphology	1605	DAG1	ORPHA:370997
HP:0002363	Abnormal brainstem morphology	25915	NDUFAF3	ORPHA:70474
HP:0002363	Abnormal brainstem morphology	4714	NDUFB8	ORPHA:70474
HP:0002363	Abnormal brainstem morphology	4720	NDUFS2	ORPHA:70474
HP:0002363	Abnormal brainstem morphology	9997	SCO2	ORPHA:70474
HP:0002363	Abnormal brainstem morphology	6834	SURF1	ORPHA:70474
HP:0002363	Abnormal brainstem morphology	5903	RANBP2	ORPHA:88619
HP:0002363	Abnormal brainstem morphology	1759	DNM1	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	2562	GABRB3	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	5602	MAPK10	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	773	CACNA1A	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	6323	SCN1A	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	23316	CUX2	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	1106	CHD2	ORPHA:2382
HP:0002363	Abnormal brainstem morphology	10978	CLP1	ORPHA:411493
HP:0002363	Abnormal brainstem morphology	23007	PLCH1	ORPHA:93925
HP:0002363	Abnormal brainstem morphology	284217	LAMA1	ORPHA:370022
HP:0002363	Abnormal brainstem morphology	4668	NAGA	ORPHA:79279
HP:0002363	Abnormal brainstem morphology	55901	THSD1	ORPHA:231160
HP:0002363	Abnormal brainstem morphology	7049	TGFBR3	ORPHA:231160
HP:0002363	Abnormal brainstem morphology	83854	ANGPTL6	ORPHA:231160
HP:0002363	Abnormal brainstem morphology	2022	ENG	ORPHA:231160
HP:0002363	Abnormal brainstem morphology	6310	ATXN1	ORPHA:98755
HP:0002363	Abnormal brainstem morphology	23265	EXOC7	OMIM:619072
HP:0002363	Abnormal brainstem morphology	11113	CIT	OMIM:617090
HP:0002363	Abnormal brainstem morphology	3912	LAMB1	OMIM:615191
HP:0002363	Abnormal brainstem morphology	3912	LAMB1	ORPHA:352682
HP:0002363	Abnormal brainstem morphology	1281	COL3A1	OMIM:618343
HP:0002363	Abnormal brainstem morphology	80347	COASY	OMIM:618266
HP:0002363	Abnormal brainstem morphology	84879	MFSD2A	OMIM:616486
HP:0002363	Abnormal brainstem morphology	1859	DYRK1A	ORPHA:268261
HP:0002363	Abnormal brainstem morphology	160418	TMTC3	OMIM:617255
HP:0002363	Abnormal brainstem morphology	26128	KIFBP	OMIM:609460
HP:0002363	Abnormal brainstem morphology	8573	CASK	OMIM:300749
HP:0002363	Abnormal brainstem morphology	79848	CSPP1	OMIM:615636
HP:0002363	Abnormal brainstem morphology	8239	USP9X	ORPHA:480880
HP:0002363	Abnormal brainstem morphology	3839	KPNA3	OMIM:620106
HP:0002363	Abnormal brainstem morphology	55627	SMPD4	OMIM:618622
HP:0002363	Abnormal brainstem morphology	51807	TUBA8	ORPHA:250972
HP:0002363	Abnormal brainstem morphology	65062	TMEM237	OMIM:614424
HP:0002363	Abnormal brainstem morphology	55624	POMGNT1	OMIM:253280
HP:0002363	Abnormal brainstem morphology	55624	POMGNT1	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	51259	TMEM216	OMIM:608091
HP:0002363	Abnormal brainstem morphology	56623	INPP5E	OMIM:213300
HP:0002363	Abnormal brainstem morphology	2218	FKTN	OMIM:253800
HP:0002363	Abnormal brainstem morphology	2218	FKTN	OMIM:236670
HP:0002363	Abnormal brainstem morphology	84942	WDR73	OMIM:251300
HP:0002363	Abnormal brainstem morphology	4784	NFIX	ORPHA:420179
HP:0002363	Abnormal brainstem morphology	55165	CEP55	OMIM:236500
HP:0002363	Abnormal brainstem morphology	9289	ADGRG1	ORPHA:101070
HP:0002363	Abnormal brainstem morphology	9289	ADGRG1	OMIM:606854
HP:0002363	Abnormal brainstem morphology	5728	PTEN	ORPHA:101070
HP:0002363	Abnormal brainstem morphology	5727	PTCH1	OMIM:610828
HP:0002363	Abnormal brainstem morphology	29925	GMPPB	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	79147	FKRP	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	79147	FKRP	OMIM:236670
HP:0002363	Abnormal brainstem morphology	79147	FKRP	OMIM:613153
HP:0002363	Abnormal brainstem morphology	29954	POMT2	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	29954	POMT2	OMIM:236670
HP:0002363	Abnormal brainstem morphology	29954	POMT2	OMIM:613150
HP:0002363	Abnormal brainstem morphology	84197	POMK	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	84197	POMK	OMIM:615249
HP:0002363	Abnormal brainstem morphology	10585	POMT1	ORPHA:370959
HP:0002363	Abnormal brainstem morphology	10585	POMT1	OMIM:236670
HP:0002363	Abnormal brainstem morphology	10585	POMT1	OMIM:613155
HP:0002363	Abnormal brainstem morphology	2972	BRF1	ORPHA:444072
HP:0002363	Abnormal brainstem morphology	5162	PDHB	ORPHA:255138
HP:0002363	Abnormal brainstem morphology	5515	PPP2CA	OMIM:618354
HP:0002363	Abnormal brainstem morphology	283989	TSEN54	OMIM:225753
HP:0002363	Abnormal brainstem morphology	283989	TSEN54	ORPHA:2524
HP:0002363	Abnormal brainstem morphology	283989	TSEN54	ORPHA:166063
HP:0002363	Abnormal brainstem morphology	11041	B4GAT1	OMIM:615287
HP:0002363	Abnormal brainstem morphology	22983	MAST1	OMIM:618273
HP:0002363	Abnormal brainstem morphology	55640	FLVCR2	OMIM:225790
HP:0002363	Abnormal brainstem morphology	84162	BLTP1	OMIM:617822
HP:0002363	Abnormal brainstem morphology	116461	TSEN15	ORPHA:2524
HP:0002363	Abnormal brainstem morphology	79042	TSEN34	ORPHA:2524
HP:0002363	Abnormal brainstem morphology	80746	TSEN2	ORPHA:2524
HP:0002363	Abnormal brainstem morphology	80746	TSEN2	OMIM:612389
HP:0002363	Abnormal brainstem morphology	51091	SEPSECS	ORPHA:2524
HP:0002363	Abnormal brainstem morphology	347733	TUBB2B	OMIM:610031
HP:0002363	Abnormal brainstem morphology	23322	RPGRIP1L	OMIM:611560
HP:0002363	Abnormal brainstem morphology	4552	MTRR	ORPHA:2169
HP:0002363	Abnormal brainstem morphology	7280	TUBB2A	OMIM:615763
HP:0002363	Abnormal brainstem morphology	10297	APC2	OMIM:618677
HP:0002363	Abnormal brainstem morphology	10381	TUBB3	OMIM:614039
HP:0002363	Abnormal brainstem morphology	10381	TUBB3	ORPHA:300570
HP:0002363	Abnormal brainstem morphology	9440	MED17	OMIM:613668
HP:0002363	Abnormal brainstem morphology	5048	PAFAH1B1	OMIM:607432
HP:0002363	Abnormal brainstem morphology	84919	PPP1R15B	OMIM:616817
HP:0002363	Abnormal brainstem morphology	84919	PPP1R15B	ORPHA:391408
HP:0002363	Abnormal brainstem morphology	93587	TRMT10A	ORPHA:391408
HP:0002363	Abnormal brainstem morphology	54820	NDE1	OMIM:605013
HP:0002363	Abnormal brainstem morphology	7846	TUBA1A	OMIM:611603
HP:0002363	Abnormal brainstem morphology	7846	TUBA1A	ORPHA:171680
HP:0002363	Abnormal brainstem morphology	9215	LARGE1	OMIM:608840
HP:0002363	Abnormal brainstem morphology	9215	LARGE1	OMIM:236670
HP:0002363	Abnormal brainstem morphology	2271	FH	OMIM:606812
HP:0002363	Abnormal brainstem morphology	63895	PIEZO2	OMIM:248700
HP:0002363	Abnormal brainstem morphology	4621	MYH3	OMIM:193700
HP:0002363	Abnormal brainstem morphology	203068	TUBB	OMIM:615771
HP:0002363	Abnormal brainstem morphology	29920	PYCR2	OMIM:616420
HP:0002363	Abnormal brainstem morphology	29920	PYCR2	ORPHA:481152
HP:0002363	Abnormal brainstem morphology	5879	RAC1	OMIM:617751
HP:0002363	Abnormal brainstem morphology	5879	RAC1	ORPHA:500159
HP:0002363	Abnormal brainstem morphology	111	ADCY5	OMIM:619651
HP:0002363	Abnormal brainstem morphology	9786	KIAA0586	OMIM:616546
HP:0002363	Abnormal brainstem morphology	5119	CHMP1A	OMIM:614961
HP:0002363	Abnormal brainstem morphology	729920	CRPPA	OMIM:614643
HP:0002363	Abnormal brainstem morphology	1778	DYNC1H1	OMIM:614563
HP:0002363	Abnormal brainstem morphology	7436	VLDLR	OMIM:224050
HP:0002363	Abnormal brainstem morphology	23499	MACF1	OMIM:618325
HP:0002363	Abnormal brainstem morphology	2019	EN1	OMIM:619218
HP:0002363	Abnormal brainstem morphology	114034	TOE1	OMIM:614969
HP:0002363	Abnormal brainstem morphology	114034	TOE1	ORPHA:284339
HP:0002363	Abnormal brainstem morphology	91147	TMEM67	OMIM:610688
HP:0002363	Abnormal brainstem morphology	84081	NSRP1	OMIM:620001
HP:0002363	Abnormal brainstem morphology	1781	DYNC1I2	OMIM:618492
HP:0002363	Abnormal brainstem morphology	148789	B3GALNT2	OMIM:615181
HP:0002363	Abnormal brainstem morphology	9562	MINPP1	ORPHA:284339
HP:0002363	Abnormal brainstem morphology	171023	ASXL1	OMIM:605039
HP:0002363	Abnormal brainstem morphology	51645	PPIL1	OMIM:619301
HP:0002363	Abnormal brainstem morphology	51362	CDC40	OMIM:619302
HP:0002363	Abnormal brainstem morphology	51075	TMX2	OMIM:618730
HP:0002363	Abnormal brainstem morphology	1496	CTNNA2	OMIM:618174
HP:0002363	Abnormal brainstem morphology	10352	WARS2	ORPHA:572798
HP:0002363	Abnormal brainstem morphology	55770	EXOC2	OMIM:619306
HP:0002363	Abnormal brainstem morphology	27445	PCLO	OMIM:608027
HP:0002363	Abnormal brainstem morphology	9230	RAB11B	OMIM:617807
HP:0002363	Abnormal brainstem morphology	389827	MYMK	OMIM:254940
HP:0002363	Abnormal brainstem morphology	59336	PRDM13	OMIM:619909
HP:0002363	Abnormal brainstem morphology	80184	CEP290	OMIM:610188
HP:0002363	Abnormal brainstem morphology	22943	DKK1	ORPHA:268882
HP:0002363	Abnormal brainstem morphology	2261	FGFR3	OMIM:100800
HP:0002363	Abnormal brainstem morphology	8792	TNFRSF11A	OMIM:602080
HP:0002363	Abnormal brainstem morphology	8314	BAP1	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	4771	NF2	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	4771	NF2	ORPHA:637
HP:0002363	Abnormal brainstem morphology	6598	SMARCB1	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	5155	PDGFB	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	84231	TRAF7	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	6608	SMO	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	207	AKT1	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	5290	PIK3CA	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	7015	TERT	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	51684	SUFU	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	6605	SMARCE1	ORPHA:2495
HP:0002363	Abnormal brainstem morphology	6095	RORA	OMIM:618060
HP:0002363	Abnormal brainstem morphology	1213	CLTC	OMIM:617854
HP:0002363	Abnormal brainstem morphology	27183	VPS4A	OMIM:619273
HP:0002363	Abnormal brainstem morphology	8813	DPM1	OMIM:608799
HP:0002363	Abnormal brainstem morphology	8813	DPM1	ORPHA:79322
HP:0002363	Abnormal brainstem morphology	23064	SETX	OMIM:606002
HP:0002363	Abnormal brainstem morphology	440193	CCDC88C	OMIM:616053
HP:0002363	Abnormal brainstem morphology	440193	CCDC88C	ORPHA:423275
HP:0002363	Abnormal brainstem morphology	5518	PPP2R1A	ORPHA:457284
HP:0002363	Abnormal brainstem morphology	6311	ATXN2	ORPHA:98756
HP:0002363	Abnormal brainstem morphology	5373	PMM2	OMIM:212065
HP:0002363	Abnormal brainstem morphology	5277	PIGA	OMIM:300868
HP:0002363	Abnormal brainstem morphology	2581	GALC	ORPHA:206448
HP:0002363	Abnormal brainstem morphology	3417	IDH1	ORPHA:99646
HP:0002363	Abnormal brainstem morphology	10059	DNM1L	ORPHA:98673
HP:0002363	Abnormal brainstem morphology	4976	OPA1	ORPHA:98673
HP:0002363	Abnormal brainstem morphology	6904	TBCD	OMIM:617193
HP:0002363	Abnormal brainstem morphology	535	ATP6V0A1	OMIM:619971
HP:0002363	Abnormal brainstem morphology	10466	COG5	ORPHA:263487
HP:0002363	Abnormal brainstem morphology	10466	COG5	OMIM:613612
HP:0002363	Abnormal brainstem morphology	84340	GFM2	ORPHA:565624
HP:0002363	Abnormal brainstem morphology	2775	GNAO1	OMIM:617493
HP:0002363	Abnormal brainstem morphology	8913	CACNA1G	ORPHA:458803
HP:0002363	Abnormal brainstem morphology	11284	PNKP	OMIM:616267
HP:0002363	Abnormal brainstem morphology	23345	SYNE1	ORPHA:88644
HP:0002363	Abnormal brainstem morphology	9512	PMPCB	OMIM:617954
HP:0002363	Abnormal brainstem morphology	6709	SPTAN1	OMIM:613477
HP:0002363	Abnormal brainstem morphology	131118	DNAJC19	ORPHA:66634
HP:0002363	Abnormal brainstem morphology	9326	ZNHIT3	ORPHA:2836
HP:0002363	Abnormal brainstem morphology	547	KIF1A	ORPHA:2836
HP:0002363	Abnormal brainstem morphology	7355	SLC35A2	ORPHA:356961
HP:0002363	Abnormal brainstem morphology	8560	DEGS1	OMIM:618404
HP:0002363	Abnormal brainstem morphology	1786	DNMT1	ORPHA:314404
HP:0002363	Abnormal brainstem morphology	90624	LYRM7	OMIM:615838
HP:0002363	Abnormal brainstem morphology	60481	ELOVL5	OMIM:615957
HP:0002363	Abnormal brainstem morphology	10667	FARS2	OMIM:614946
HP:0002363	Abnormal brainstem morphology	51608	GET4	OMIM:620200
HP:0002363	Abnormal brainstem morphology	5611	DNAJC3	OMIM:616192
HP:0002363	Abnormal brainstem morphology	5611	DNAJC3	ORPHA:445062
HP:0002363	Abnormal brainstem morphology	10715	CERS1	OMIM:616230
HP:0002363	Abnormal brainstem morphology	10935	PRDX3	OMIM:619862
HP:0002363	Abnormal brainstem morphology	8295	TRRAP	OMIM:618454
HP:0002363	Abnormal brainstem morphology	122553	TRAPPC6B	OMIM:617862
HP:0002363	Abnormal brainstem morphology	1892	ECHS1	OMIM:616277
HP:0002363	Abnormal brainstem morphology	246243	RNASEH1	OMIM:616479
HP:0002363	Abnormal brainstem morphology	478	ATP1A3	OMIM:619606
HP:0002363	Abnormal brainstem morphology	79152	FA2H	ORPHA:171629
HP:0002363	Abnormal brainstem morphology	79152	FA2H	OMIM:612319
HP:0002363	Abnormal brainstem morphology	84342	COG8	ORPHA:95428
HP:0002363	Abnormal brainstem morphology	57038	RARS2	OMIM:611523
HP:0002363	Abnormal brainstem morphology	6908	TBP	ORPHA:98759
HP:0002363	Abnormal brainstem morphology	56652	TWNK	OMIM:271245
HP:0002363	Abnormal brainstem morphology	80199	FUZ	ORPHA:1136
HP:0002363	Abnormal brainstem morphology	2670	GFAP	ORPHA:363722
HP:0002363	Abnormal brainstem morphology	1593	CYP27A1	ORPHA:909
HP:0002363	Abnormal brainstem morphology	26278	SACS	ORPHA:98
HP:0002363	Abnormal brainstem morphology	4001	LMNB1	ORPHA:99027
HP:0002363	Abnormal brainstem morphology	2313	FLI1	ORPHA:370348
HP:0002363	Abnormal brainstem morphology	54806	AHI1	OMIM:608629
HP:0002363	Abnormal brainstem morphology	403	ARL3	OMIM:618161
HP:0002363	Abnormal brainstem morphology	1182	CLCN3	OMIM:619512
HP:0002363	Abnormal brainstem morphology	4867	NPHP1	OMIM:609583
HP:0002363	Abnormal brainstem morphology	55773	TBC1D23	OMIM:617695
HP:0002363	Abnormal brainstem morphology	94005	PIGS	OMIM:618143
HP:0002363	Abnormal brainstem morphology	11340	EXOSC8	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	5393	EXOSC9	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	23287	AGTPBP1	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	23287	AGTPBP1	OMIM:618276
HP:0002363	Abnormal brainstem morphology	51010	EXOSC3	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	7443	VRK1	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	7443	VRK1	OMIM:607596
HP:0002363	Abnormal brainstem morphology	91137	SLC25A46	ORPHA:2254
HP:0002363	Abnormal brainstem morphology	91137	SLC25A46	OMIM:619303
HP:0002363	Abnormal brainstem morphology	85440	DOCK7	ORPHA:411986
HP:0002363	Abnormal brainstem morphology	85440	DOCK7	OMIM:615859
HP:0002363	Abnormal brainstem morphology	25914	RTTN	ORPHA:468631
HP:0002363	Abnormal brainstem morphology	5649	RELN	OMIM:257320
HP:0002363	Abnormal brainstem morphology	23126	POGZ	ORPHA:468678
HP:0002363	Abnormal brainstem morphology	724066	ATXN8	ORPHA:98760
HP:0002363	Abnormal brainstem morphology	6315	ATXN8OS	ORPHA:98760
HP:0002363	Abnormal brainstem morphology	10733	PLK4	OMIM:616171
HP:0002363	Abnormal brainstem morphology	51112	TRAPPC12	ORPHA:500144
HP:0002363	Abnormal brainstem morphology	51112	TRAPPC12	OMIM:617669
HP:0002363	Abnormal brainstem morphology	473	RERE	OMIM:616975
HP:0002363	Abnormal brainstem morphology	4190	MDH1	OMIM:618959
HP:0002363	Abnormal brainstem morphology	4081	MAB21L1	OMIM:618479
HP:0002363	Abnormal brainstem morphology	29072	SETD2	OMIM:620157
HP:0002363	Abnormal brainstem morphology	29072	SETD2	OMIM:620155
HP:0002363	Abnormal brainstem morphology	64221	ROBO3	OMIM:607313
HP:0002363	Abnormal brainstem morphology	271	AMPD2	OMIM:615809
HP:0002363	Abnormal brainstem morphology	57231	SNX14	ORPHA:397709
HP:0002363	Abnormal brainstem morphology	6595	SMARCA2	OMIM:619293
HP:0002363	Abnormal brainstem morphology	440	ASNS	OMIM:615574
HP:0002363	Abnormal brainstem morphology	10273	STUB1	ORPHA:412057
HP:0002363	Abnormal brainstem morphology	738	VPS51	OMIM:618606
HP:0002363	Abnormal brainstem morphology	9439	MED23	OMIM:614249
HP:0002363	Abnormal brainstem morphology	10195	ALG3	ORPHA:79321
HP:0002363	Abnormal brainstem morphology	191	AHCY	ORPHA:88618
HP:0002363	Abnormal brainstem morphology	8884	SLC5A6	OMIM:618973
HP:0002363	Abnormal brainstem morphology	92935	MARS2	OMIM:616430
HP:0002363	Abnormal brainstem morphology	7471	WNT1	OMIM:615220
HP:0002363	Abnormal brainstem morphology	7545	ZIC1	OMIM:618736
HP:0002363	Abnormal brainstem morphology	10243	GPHN	OMIM:615501
HP:0002363	Abnormal brainstem morphology	9181	ARHGEF2	OMIM:617523
HP:0002363	Abnormal brainstem morphology	51013	EXOSC1	OMIM:619304
HP:0002363	Abnormal brainstem morphology	7319	UBE2A	ORPHA:163956
HP:0002363	Abnormal brainstem morphology	57724	EPG5	ORPHA:1493
HP:0002363	Abnormal brainstem morphology	5297	PI4KA	OMIM:619708
HP:0002363	Abnormal brainstem morphology	215	ABCD1	ORPHA:139396
HP:0002363	Abnormal brainstem morphology	23474	ETHE1	ORPHA:51188
HP:0002363	Abnormal brainstem morphology	9131	AIFM1	ORPHA:83629
HP:0002363	Abnormal brainstem morphology	91574	MTRFR	ORPHA:254930
HP:0002363	Abnormal brainstem morphology	80704	SLC19A3	ORPHA:263410
HP:0002363	Abnormal brainstem morphology	84705	GTPBP3	ORPHA:444013
HP:0002363	Abnormal brainstem morphology	3908	LAMA2	ORPHA:258
HP:0002363	Abnormal brainstem morphology	54539	NDUFB11	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	51103	NDUFAF1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	91942	NDUFAF2	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	51300	TIMMDC1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4716	NDUFB10	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4723	NDUFV1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	55572	FOXRED1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	284184	NDUFAF8	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	55863	TMEM126B	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4535	MT-ND1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4537	MT-ND3	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4729	NDUFV2	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4694	NDUFA1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4724	NDUFS4	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4726	NDUFS6	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4728	NDUFS8	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4722	NDUFS3	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	79133	NDUFAF5	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	126328	NDUFA11	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4709	NDUFB3	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	80224	NUBPL	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	29078	NDUFAF4	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	374291	NDUFS7	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4700	NDUFA6	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4536	MT-ND2	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4719	NDUFS1	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	4715	NDUFB9	ORPHA:2609
HP:0002363	Abnormal brainstem morphology	11235	PDCD10	ORPHA:221061
HP:0002363	Abnormal brainstem morphology	83605	CCM2	ORPHA:221061
HP:0002363	Abnormal brainstem morphology	889	KRIT1	ORPHA:221061
HP:0002363	Abnormal brainstem morphology	1630	DCC	OMIM:617542
HP:0002365	Hypoplasia of the brainstem	23265	EXOC7	OMIM:619072
HP:0002365	Hypoplasia of the brainstem	11113	CIT	OMIM:617090
HP:0002365	Hypoplasia of the brainstem	3912	LAMB1	OMIM:615191
HP:0002365	Hypoplasia of the brainstem	3912	LAMB1	ORPHA:352682
HP:0002365	Hypoplasia of the brainstem	1281	COL3A1	OMIM:618343
HP:0002365	Hypoplasia of the brainstem	80347	COASY	OMIM:618266
HP:0002365	Hypoplasia of the brainstem	84879	MFSD2A	OMIM:616486
HP:0002365	Hypoplasia of the brainstem	1859	DYRK1A	ORPHA:268261
HP:0002365	Hypoplasia of the brainstem	160418	TMTC3	OMIM:617255
HP:0002365	Hypoplasia of the brainstem	26128	KIFBP	OMIM:609460
HP:0002365	Hypoplasia of the brainstem	8573	CASK	OMIM:300749
HP:0002365	Hypoplasia of the brainstem	79848	CSPP1	OMIM:615636
HP:0002365	Hypoplasia of the brainstem	8239	USP9X	ORPHA:480880
HP:0002365	Hypoplasia of the brainstem	3839	KPNA3	OMIM:620106
HP:0002365	Hypoplasia of the brainstem	55627	SMPD4	OMIM:618622
HP:0002365	Hypoplasia of the brainstem	51807	TUBA8	ORPHA:250972
HP:0002365	Hypoplasia of the brainstem	65062	TMEM237	OMIM:614424
HP:0002365	Hypoplasia of the brainstem	55624	POMGNT1	OMIM:253280
HP:0002365	Hypoplasia of the brainstem	55624	POMGNT1	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	51259	TMEM216	OMIM:608091
HP:0002365	Hypoplasia of the brainstem	56623	INPP5E	OMIM:213300
HP:0002365	Hypoplasia of the brainstem	2218	FKTN	OMIM:253800
HP:0002365	Hypoplasia of the brainstem	2218	FKTN	OMIM:236670
HP:0002365	Hypoplasia of the brainstem	84942	WDR73	OMIM:251300
HP:0002365	Hypoplasia of the brainstem	4784	NFIX	ORPHA:420179
HP:0002365	Hypoplasia of the brainstem	55165	CEP55	OMIM:236500
HP:0002365	Hypoplasia of the brainstem	9289	ADGRG1	ORPHA:101070
HP:0002365	Hypoplasia of the brainstem	9289	ADGRG1	OMIM:606854
HP:0002365	Hypoplasia of the brainstem	5728	PTEN	ORPHA:101070
HP:0002365	Hypoplasia of the brainstem	5727	PTCH1	OMIM:610828
HP:0002365	Hypoplasia of the brainstem	29925	GMPPB	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	79147	FKRP	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	79147	FKRP	OMIM:236670
HP:0002365	Hypoplasia of the brainstem	79147	FKRP	OMIM:613153
HP:0002365	Hypoplasia of the brainstem	29954	POMT2	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	29954	POMT2	OMIM:236670
HP:0002365	Hypoplasia of the brainstem	29954	POMT2	OMIM:613150
HP:0002365	Hypoplasia of the brainstem	84197	POMK	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	84197	POMK	OMIM:615249
HP:0002365	Hypoplasia of the brainstem	10585	POMT1	ORPHA:370959
HP:0002365	Hypoplasia of the brainstem	10585	POMT1	OMIM:236670
HP:0002365	Hypoplasia of the brainstem	10585	POMT1	OMIM:613155
HP:0002365	Hypoplasia of the brainstem	2972	BRF1	ORPHA:444072
HP:0002365	Hypoplasia of the brainstem	5162	PDHB	ORPHA:255138
HP:0002365	Hypoplasia of the brainstem	5515	PPP2CA	OMIM:618354
HP:0002365	Hypoplasia of the brainstem	283989	TSEN54	OMIM:225753
HP:0002365	Hypoplasia of the brainstem	283989	TSEN54	ORPHA:2524
HP:0002365	Hypoplasia of the brainstem	283989	TSEN54	ORPHA:166063
HP:0002365	Hypoplasia of the brainstem	11041	B4GAT1	OMIM:615287
HP:0002365	Hypoplasia of the brainstem	22983	MAST1	OMIM:618273
HP:0002365	Hypoplasia of the brainstem	55640	FLVCR2	OMIM:225790
HP:0002365	Hypoplasia of the brainstem	84162	BLTP1	OMIM:617822
HP:0002365	Hypoplasia of the brainstem	116461	TSEN15	ORPHA:2524
HP:0002365	Hypoplasia of the brainstem	79042	TSEN34	ORPHA:2524
HP:0002365	Hypoplasia of the brainstem	80746	TSEN2	ORPHA:2524
HP:0002365	Hypoplasia of the brainstem	80746	TSEN2	OMIM:612389
HP:0002365	Hypoplasia of the brainstem	51091	SEPSECS	ORPHA:2524
HP:0002365	Hypoplasia of the brainstem	347733	TUBB2B	OMIM:610031
HP:0002365	Hypoplasia of the brainstem	23322	RPGRIP1L	OMIM:611560
HP:0002365	Hypoplasia of the brainstem	4552	MTRR	ORPHA:2169
HP:0002365	Hypoplasia of the brainstem	7280	TUBB2A	OMIM:615763
HP:0002365	Hypoplasia of the brainstem	10297	APC2	OMIM:618677
HP:0002365	Hypoplasia of the brainstem	10381	TUBB3	OMIM:614039
HP:0002365	Hypoplasia of the brainstem	10381	TUBB3	ORPHA:300570
HP:0002365	Hypoplasia of the brainstem	9440	MED17	OMIM:613668
HP:0002365	Hypoplasia of the brainstem	5048	PAFAH1B1	OMIM:607432
HP:0002365	Hypoplasia of the brainstem	84919	PPP1R15B	OMIM:616817
HP:0002365	Hypoplasia of the brainstem	84919	PPP1R15B	ORPHA:391408
HP:0002365	Hypoplasia of the brainstem	93587	TRMT10A	ORPHA:391408
HP:0002365	Hypoplasia of the brainstem	54820	NDE1	OMIM:605013
HP:0002365	Hypoplasia of the brainstem	7846	TUBA1A	OMIM:611603
HP:0002365	Hypoplasia of the brainstem	7846	TUBA1A	ORPHA:171680
HP:0002365	Hypoplasia of the brainstem	9215	LARGE1	OMIM:608840
HP:0002365	Hypoplasia of the brainstem	9215	LARGE1	OMIM:236670
HP:0002365	Hypoplasia of the brainstem	2271	FH	OMIM:606812
HP:0002365	Hypoplasia of the brainstem	63895	PIEZO2	OMIM:248700
HP:0002365	Hypoplasia of the brainstem	4621	MYH3	OMIM:193700
HP:0002365	Hypoplasia of the brainstem	203068	TUBB	OMIM:615771
HP:0002365	Hypoplasia of the brainstem	29920	PYCR2	OMIM:616420
HP:0002365	Hypoplasia of the brainstem	29920	PYCR2	ORPHA:481152
HP:0002365	Hypoplasia of the brainstem	5879	RAC1	OMIM:617751
HP:0002365	Hypoplasia of the brainstem	5879	RAC1	ORPHA:500159
HP:0002365	Hypoplasia of the brainstem	111	ADCY5	OMIM:619651
HP:0002365	Hypoplasia of the brainstem	9786	KIAA0586	OMIM:616546
HP:0002365	Hypoplasia of the brainstem	5119	CHMP1A	OMIM:614961
HP:0002365	Hypoplasia of the brainstem	729920	CRPPA	OMIM:614643
HP:0002365	Hypoplasia of the brainstem	1778	DYNC1H1	OMIM:614563
HP:0002365	Hypoplasia of the brainstem	7436	VLDLR	OMIM:224050
HP:0002365	Hypoplasia of the brainstem	23499	MACF1	OMIM:618325
HP:0002365	Hypoplasia of the brainstem	2019	EN1	OMIM:619218
HP:0002365	Hypoplasia of the brainstem	114034	TOE1	OMIM:614969
HP:0002365	Hypoplasia of the brainstem	114034	TOE1	ORPHA:284339
HP:0002365	Hypoplasia of the brainstem	91147	TMEM67	OMIM:610688
HP:0002365	Hypoplasia of the brainstem	84081	NSRP1	OMIM:620001
HP:0002365	Hypoplasia of the brainstem	1781	DYNC1I2	OMIM:618492
HP:0002365	Hypoplasia of the brainstem	148789	B3GALNT2	OMIM:615181
HP:0002365	Hypoplasia of the brainstem	9562	MINPP1	ORPHA:284339
HP:0002365	Hypoplasia of the brainstem	171023	ASXL1	OMIM:605039
HP:0002365	Hypoplasia of the brainstem	51645	PPIL1	OMIM:619301
HP:0002365	Hypoplasia of the brainstem	51362	CDC40	OMIM:619302
HP:0002365	Hypoplasia of the brainstem	51075	TMX2	OMIM:618730
HP:0002365	Hypoplasia of the brainstem	1496	CTNNA2	OMIM:618174
HP:0002365	Hypoplasia of the brainstem	10352	WARS2	ORPHA:572798
HP:0002365	Hypoplasia of the brainstem	55770	EXOC2	OMIM:619306
HP:0002365	Hypoplasia of the brainstem	27445	PCLO	OMIM:608027
HP:0002365	Hypoplasia of the brainstem	9230	RAB11B	OMIM:617807
HP:0002365	Hypoplasia of the brainstem	389827	MYMK	OMIM:254940
HP:0002365	Hypoplasia of the brainstem	59336	PRDM13	OMIM:619909
HP:0002366	Abnormal lower motor neuron morphology	23064	SETX	OMIM:602433
HP:0002366	Abnormal lower motor neuron morphology	427	ASAH1	ORPHA:2590
HP:0002366	Abnormal lower motor neuron morphology	6687	SPG7	ORPHA:35689
HP:0002366	Abnormal lower motor neuron morphology	83636	C19orf12	OMIM:614298
HP:0002366	Abnormal lower motor neuron morphology	57679	ALS2	OMIM:205100
HP:0002366	Abnormal lower motor neuron morphology	57679	ALS2	OMIM:607225
HP:0002366	Abnormal lower motor neuron morphology	9782	MATR3	OMIM:606070
HP:0002366	Abnormal lower motor neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0002366	Abnormal lower motor neuron morphology	29110	TBK1	OMIM:616439
HP:0002366	Abnormal lower motor neuron morphology	29110	TBK1	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	OMIM:613954
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	8878	SQSTM1	OMIM:616437
HP:0002366	Abnormal lower motor neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	1639	DCTN1	OMIM:607641
HP:0002366	Abnormal lower motor neuron morphology	4287	ATXN3	ORPHA:276244
HP:0002366	Abnormal lower motor neuron morphology	54822	TRPM7	OMIM:105500
HP:0002366	Abnormal lower motor neuron morphology	2521	FUS	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	23435	TARDBP	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	80208	SPG11	OMIM:602099
HP:0002366	Abnormal lower motor neuron morphology	203228	C9orf72	OMIM:105550
HP:0002366	Abnormal lower motor neuron morphology	55187	VPS13D	ORPHA:95434
HP:0002366	Abnormal lower motor neuron morphology	27072	VPS41	ORPHA:95434
HP:0002366	Abnormal lower motor neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	5663	PSEN1	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	2896	GRN	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	4137	MAPT	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	54209	TREM2	ORPHA:100070
HP:0002367	Visual hallucinations	9896	FIG4	ORPHA:208441
HP:0002367	Visual hallucinations	9896	FIG4	OMIM:612691
HP:0002367	Visual hallucinations	5649	RELN	ORPHA:101046
HP:0002367	Visual hallucinations	9211	LGI1	ORPHA:101046
HP:0002367	Visual hallucinations	9681	DEPDC5	ORPHA:101046
HP:0002367	Visual hallucinations	9681	DEPDC5	ORPHA:98820
HP:0002367	Visual hallucinations	80331	DNAJC5	OMIM:162350
HP:0002367	Visual hallucinations	25793	FBXO7	ORPHA:171695
HP:0002367	Visual hallucinations	6622	SNCA	ORPHA:171695
HP:0002367	Visual hallucinations	6622	SNCA	ORPHA:411602
HP:0002367	Visual hallucinations	6622	SNCA	OMIM:127750
HP:0002367	Visual hallucinations	23400	ATP13A2	ORPHA:306674
HP:0002367	Visual hallucinations	7957	EPM2A	OMIM:254780
HP:0002367	Visual hallucinations	7957	EPM2A	ORPHA:501
HP:0002367	Visual hallucinations	378884	NHLRC1	OMIM:254780
HP:0002367	Visual hallucinations	378884	NHLRC1	ORPHA:501
HP:0002367	Visual hallucinations	54982	CLN6	OMIM:204300
HP:0002367	Visual hallucinations	2629	GBA1	ORPHA:411602
HP:0002367	Visual hallucinations	2629	GBA1	OMIM:127750
HP:0002367	Visual hallucinations	23317	DNAJC13	ORPHA:411602
HP:0002367	Visual hallucinations	1981	EIF4G1	ORPHA:411602
HP:0002367	Visual hallucinations	55737	VPS35	ORPHA:411602
HP:0002367	Visual hallucinations	120892	LRRK2	ORPHA:411602
HP:0002367	Visual hallucinations	26058	GIGYF2	ORPHA:411602
HP:0002367	Visual hallucinations	1201	CLN3	ORPHA:228346
HP:0002367	Visual hallucinations	6620	SNCB	OMIM:127750
HP:0002367	Visual hallucinations	83480	PUS3	ORPHA:488627
HP:0002367	Visual hallucinations	773	CACNA1A	OMIM:141500
HP:0002367	Visual hallucinations	8131	NPRL3	ORPHA:98820
HP:0002367	Visual hallucinations	10641	NPRL2	ORPHA:98820
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219800
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219750
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411629
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219900
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411641
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411634
HP:0000708	Atypical behavior	778	CACNA1F	OMIM:300476
HP:0000708	Atypical behavior	778	CACNA1F	ORPHA:1872
HP:0000708	Atypical behavior	7299	TYR	OMIM:203100
HP:0000708	Atypical behavior	7299	TYR	OMIM:606952
HP:0000708	Atypical behavior	7299	TYR	ORPHA:79431
HP:0000708	Atypical behavior	7299	TYR	ORPHA:79434
HP:0000708	Atypical behavior	4166	CHST6	ORPHA:98969
HP:0000708	Atypical behavior	4166	CHST6	OMIM:217800
HP:0000708	Atypical behavior	2780	GNAT2	OMIM:613856
HP:0000708	Atypical behavior	2780	GNAT2	ORPHA:1871
HP:0000708	Atypical behavior	2780	GNAT2	ORPHA:49382
HP:0000708	Atypical behavior	4047	LSS	ORPHA:2850
HP:0000708	Atypical behavior	197	AHSG	ORPHA:2850
HP:0000708	Atypical behavior	3694	ITGB6	ORPHA:2850
HP:0000708	Atypical behavior	5111	PCNA	OMIM:615919
HP:0000708	Atypical behavior	5111	PCNA	ORPHA:438134
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98962
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98964
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98960
HP:0000708	Atypical behavior	7045	TGFBI	OMIM:608470
HP:0000708	Atypical behavior	7045	TGFBI	OMIM:602082
HP:0000708	Atypical behavior	2067	ERCC1	ORPHA:90322
HP:0000708	Atypical behavior	6720	SREBF1	OMIM:158310
HP:0000708	Atypical behavior	6720	SREBF1	OMIM:619016
HP:0000708	Atypical behavior	54714	CNGB3	OMIM:262300
HP:0000708	Atypical behavior	54714	CNGB3	ORPHA:1871
HP:0000708	Atypical behavior	54714	CNGB3	ORPHA:49382
HP:0000708	Atypical behavior	162	AP1B1	OMIM:242150
HP:0000708	Atypical behavior	1638	DCT	OMIM:619165
HP:0000708	Atypical behavior	26504	CNNM4	ORPHA:1873
HP:0000708	Atypical behavior	26504	CNNM4	OMIM:217080
HP:0000708	Atypical behavior	8842	PROM1	ORPHA:1872
HP:0000708	Atypical behavior	8842	PROM1	ORPHA:791
HP:0000708	Atypical behavior	22926	ATF6	ORPHA:1872
HP:0000708	Atypical behavior	22926	ATF6	ORPHA:49382
HP:0000708	Atypical behavior	22926	ATF6	OMIM:616517
HP:0000708	Atypical behavior	64802	NMNAT1	ORPHA:1872
HP:0000708	Atypical behavior	64802	NMNAT1	OMIM:608553
HP:0000708	Atypical behavior	84839	RAX2	ORPHA:1872
HP:0000708	Atypical behavior	84839	RAX2	OMIM:610381
HP:0000708	Atypical behavior	57096	RPGRIP1	ORPHA:1872
HP:0000708	Atypical behavior	57096	RPGRIP1	OMIM:608194
HP:0000708	Atypical behavior	57096	RPGRIP1	OMIM:613826
HP:0000708	Atypical behavior	24	ABCA4	ORPHA:1872
HP:0000708	Atypical behavior	24	ABCA4	ORPHA:791
HP:0000708	Atypical behavior	1261	CNGA3	ORPHA:1872
HP:0000708	Atypical behavior	1261	CNGA3	ORPHA:49382
HP:0000708	Atypical behavior	1261	CNGA3	OMIM:216900
HP:0000708	Atypical behavior	92211	CDHR1	ORPHA:1872
HP:0000708	Atypical behavior	92211	CDHR1	OMIM:613660
HP:0000708	Atypical behavior	92211	CDHR1	ORPHA:791
HP:0000708	Atypical behavior	5956	OPN1LW	ORPHA:1872
HP:0000708	Atypical behavior	5956	OPN1LW	OMIM:303700
HP:0000708	Atypical behavior	5956	OPN1LW	ORPHA:16
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:1872
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:52427
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:791
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:613105
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:169150
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:608161
HP:0000708	Atypical behavior	8754	ADAM9	ORPHA:1872
HP:0000708	Atypical behavior	3000	GUCY2D	ORPHA:1872
HP:0000708	Atypical behavior	3000	GUCY2D	OMIM:204000
HP:0000708	Atypical behavior	3000	GUCY2D	OMIM:601777
HP:0000708	Atypical behavior	22999	RIMS1	ORPHA:1872
HP:0000708	Atypical behavior	128338	DRAM2	ORPHA:1872
HP:0000708	Atypical behavior	128338	DRAM2	OMIM:616502
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:1872
HP:0000708	Atypical behavior	6103	RPGR	OMIM:304020
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:49382
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:791
HP:0000708	Atypical behavior	6103	RPGR	OMIM:300029
HP:0000708	Atypical behavior	2652	OPN1MW	ORPHA:1872
HP:0000708	Atypical behavior	2652	OPN1MW	OMIM:303700
HP:0000708	Atypical behavior	2652	OPN1MW	ORPHA:16
HP:0000708	Atypical behavior	1406	CRX	ORPHA:1872
HP:0000708	Atypical behavior	1406	CRX	ORPHA:791
HP:0000708	Atypical behavior	1406	CRX	OMIM:613829
HP:0000708	Atypical behavior	9094	UNC119	ORPHA:1872
HP:0000708	Atypical behavior	93589	CACNA2D4	ORPHA:1872
HP:0000708	Atypical behavior	93589	CACNA2D4	OMIM:610478
HP:0000708	Atypical behavior	2978	GUCA1A	ORPHA:1872
HP:0000708	Atypical behavior	2978	GUCA1A	ORPHA:1871
HP:0000708	Atypical behavior	2978	GUCA1A	OMIM:602093
HP:0000708	Atypical behavior	282809	POC1B	ORPHA:1872
HP:0000708	Atypical behavior	83394	PITPNM3	ORPHA:1872
HP:0000708	Atypical behavior	83394	PITPNM3	OMIM:600977
HP:0000708	Atypical behavior	23093	TTLL5	ORPHA:1872
HP:0000708	Atypical behavior	83723	TLCD3B	ORPHA:1872
HP:0000708	Atypical behavior	83723	TLCD3B	OMIM:619531
HP:0000708	Atypical behavior	157657	CFAP418	ORPHA:1872
HP:0000708	Atypical behavior	157657	CFAP418	OMIM:614500
HP:0000708	Atypical behavior	157657	CFAP418	ORPHA:791
HP:0000708	Atypical behavior	23746	AIPL1	ORPHA:1872
HP:0000708	Atypical behavior	9364	RAB28	ORPHA:1872
HP:0000708	Atypical behavior	5146	PDE6C	ORPHA:1871
HP:0000708	Atypical behavior	5146	PDE6C	OMIM:613093
HP:0000708	Atypical behavior	5146	PDE6C	ORPHA:49382
HP:0000708	Atypical behavior	224	ALDH3A2	ORPHA:816
HP:0000708	Atypical behavior	224	ALDH3A2	OMIM:270200
HP:0000708	Atypical behavior	169522	KCNV2	OMIM:610356
HP:0000708	Atypical behavior	6507	SLC1A3	OMIM:612656
HP:0000708	Atypical behavior	6507	SLC1A3	ORPHA:209967
HP:0000708	Atypical behavior	200576	PIKFYVE	OMIM:121850
HP:0000708	Atypical behavior	63915	BLOC1S5	OMIM:619172
HP:0000708	Atypical behavior	3105	HLA-A	ORPHA:179
HP:0000708	Atypical behavior	51360	MBTPS2	ORPHA:2273
HP:0000708	Atypical behavior	51360	MBTPS2	OMIM:308800
HP:0000708	Atypical behavior	51360	MBTPS2	OMIM:308205
HP:0000708	Atypical behavior	283652	SLC24A5	OMIM:113750
HP:0000708	Atypical behavior	283652	SLC24A5	ORPHA:370097
HP:0000708	Atypical behavior	79797	ZNF408	OMIM:616469
HP:0000708	Atypical behavior	79797	ZNF408	ORPHA:791
HP:0000708	Atypical behavior	64834	ELOVL1	OMIM:618527
HP:0000708	Atypical behavior	3850	KRT3	OMIM:618767
HP:0000708	Atypical behavior	80326	WNT10A	OMIM:257980
HP:0000708	Atypical behavior	80326	WNT10A	OMIM:150400
HP:0000708	Atypical behavior	8546	AP3B1	OMIM:608233
HP:0000708	Atypical behavior	1130	LYST	ORPHA:167
HP:0000708	Atypical behavior	1130	LYST	OMIM:214500
HP:0000708	Atypical behavior	1420	CRYGC	OMIM:604307
HP:0000708	Atypical behavior	1282	COL4A1	OMIM:180000
HP:0000708	Atypical behavior	4053	LTBP2	OMIM:613086
HP:0000708	Atypical behavior	5333	PLCD1	ORPHA:2387
HP:0000708	Atypical behavior	1474	CST6	OMIM:618535
HP:0000708	Atypical behavior	10804	GJB6	ORPHA:477
HP:0000708	Atypical behavior	10804	GJB6	OMIM:129500
HP:0000708	Atypical behavior	2706	GJB2	ORPHA:477
HP:0000708	Atypical behavior	2706	GJB2	OMIM:148210
HP:0000708	Atypical behavior	3769	KCNJ13	OMIM:614186
HP:0000708	Atypical behavior	5149	PDE6H	OMIM:610024
HP:0000708	Atypical behavior	5149	PDE6H	ORPHA:49382
HP:0000708	Atypical behavior	2099	ESR1	OMIM:157300
HP:0000708	Atypical behavior	7124	TNF	OMIM:157300
HP:0000708	Atypical behavior	6017	RLBP1	ORPHA:52427
HP:0000708	Atypical behavior	6017	RLBP1	ORPHA:791
HP:0000708	Atypical behavior	6010	RHO	ORPHA:52427
HP:0000708	Atypical behavior	6010	RHO	ORPHA:791
HP:0000708	Atypical behavior	5959	RDH5	ORPHA:52427
HP:0000708	Atypical behavior	3098	HK1	OMIM:617460
HP:0000708	Atypical behavior	79803	HPS6	OMIM:614075
HP:0000708	Atypical behavior	3859	KRT12	OMIM:122100
HP:0000708	Atypical behavior	6121	RPE65	OMIM:204100
HP:0000708	Atypical behavior	6121	RPE65	ORPHA:791
HP:0000708	Atypical behavior	6121	RPE65	ORPHA:364055
HP:0000708	Atypical behavior	326	AIRE	ORPHA:3453
HP:0000708	Atypical behavior	57192	MCOLN1	ORPHA:578
HP:0000708	Atypical behavior	57192	MCOLN1	OMIM:252650
HP:0000708	Atypical behavior	10002	NR2E3	OMIM:611131
HP:0000708	Atypical behavior	10002	NR2E3	ORPHA:791
HP:0000708	Atypical behavior	83938	LRMDA	OMIM:615179
HP:0000708	Atypical behavior	84168	ANTXR1	OMIM:230740
HP:0000708	Atypical behavior	1634	DCN	OMIM:610048
HP:0000708	Atypical behavior	404672	GTF2H5	ORPHA:33364
HP:0000708	Atypical behavior	2068	ERCC2	ORPHA:33364
HP:0000708	Atypical behavior	2068	ERCC2	ORPHA:910
HP:0000708	Atypical behavior	2068	ERCC2	OMIM:601675
HP:0000708	Atypical behavior	2068	ERCC2	OMIM:278730
HP:0000708	Atypical behavior	7737	RNF113A	ORPHA:33364
HP:0000708	Atypical behavior	136647	MPLKIP	ORPHA:33364
HP:0000708	Atypical behavior	6897	TARS1	ORPHA:33364
HP:0000708	Atypical behavior	2071	ERCC3	ORPHA:33364
HP:0000708	Atypical behavior	2071	ERCC3	ORPHA:910
HP:0000708	Atypical behavior	2961	GTF2E2	ORPHA:33364
HP:0000708	Atypical behavior	2303	FOXC2	ORPHA:33001
HP:0000708	Atypical behavior	2303	FOXC2	OMIM:153400
HP:0000708	Atypical behavior	64127	NOD2	ORPHA:90340
HP:0000708	Atypical behavior	5429	POLH	ORPHA:90342
HP:0000708	Atypical behavior	5429	POLH	OMIM:278750
HP:0000708	Atypical behavior	6314	ATXN7	ORPHA:94147
HP:0000708	Atypical behavior	8943	AP3D1	ORPHA:54
HP:0000708	Atypical behavior	8943	AP3D1	ORPHA:1000
HP:0000708	Atypical behavior	4935	GPR143	ORPHA:54
HP:0000708	Atypical behavior	4935	GPR143	OMIM:300500
HP:0000708	Atypical behavior	8481	OFD1	OMIM:300424
HP:0000708	Atypical behavior	8481	OFD1	ORPHA:791
HP:0000708	Atypical behavior	58495	OVOL2	OMIM:122000
HP:0000708	Atypical behavior	58495	OVOL2	ORPHA:98973
HP:0000708	Atypical behavior	2697	GJA1	ORPHA:1010
HP:0000708	Atypical behavior	4157	MC1R	ORPHA:79432
HP:0000708	Atypical behavior	6935	ZEB1	ORPHA:98973
HP:0000708	Atypical behavior	30813	VSX1	ORPHA:98973
HP:0000708	Atypical behavior	79977	GRHL2	ORPHA:98973
HP:0000708	Atypical behavior	1296	COL8A2	ORPHA:98973
HP:0000708	Atypical behavior	7507	XPA	ORPHA:910
HP:0000708	Atypical behavior	7508	XPC	ORPHA:910
HP:0000708	Atypical behavior	7508	XPC	OMIM:278720
HP:0000708	Atypical behavior	1643	DDB2	ORPHA:910
HP:0000708	Atypical behavior	1643	DDB2	OMIM:278740
HP:0000708	Atypical behavior	2073	ERCC5	ORPHA:910
HP:0000708	Atypical behavior	51151	SLC45A2	ORPHA:79435
HP:0000708	Atypical behavior	92840	REEP6	ORPHA:791
HP:0000708	Atypical behavior	6094	ROM1	ORPHA:791
HP:0000708	Atypical behavior	130557	ZNF513	ORPHA:791
HP:0000708	Atypical behavior	582	BBS1	ORPHA:791
HP:0000708	Atypical behavior	23568	ARL2BP	ORPHA:791
HP:0000708	Atypical behavior	54806	AHI1	ORPHA:791
HP:0000708	Atypical behavior	6101	RP1	ORPHA:791
HP:0000708	Atypical behavior	3419	IDH3A	ORPHA:791
HP:0000708	Atypical behavior	4751	NEK2	ORPHA:791
HP:0000708	Atypical behavior	346007	EYS	ORPHA:791
HP:0000708	Atypical behavior	346007	EYS	OMIM:602772
HP:0000708	Atypical behavior	8100	IFT88	ORPHA:791
HP:0000708	Atypical behavior	23020	SNRNP200	ORPHA:791
HP:0000708	Atypical behavior	762	CA4	ORPHA:791
HP:0000708	Atypical behavior	196	AHR	ORPHA:791
HP:0000708	Atypical behavior	3614	IMPDH1	ORPHA:791
HP:0000708	Atypical behavior	123016	TTC8	ORPHA:791
HP:0000708	Atypical behavior	123016	TTC8	OMIM:613464
HP:0000708	Atypical behavior	5148	PDE6G	ORPHA:791
HP:0000708	Atypical behavior	26160	IFT172	ORPHA:791
HP:0000708	Atypical behavior	26121	PRPF31	ORPHA:791
HP:0000708	Atypical behavior	583	BBS2	ORPHA:791
HP:0000708	Atypical behavior	4117	MAK	ORPHA:791
HP:0000708	Atypical behavior	25794	FSCN2	ORPHA:791
HP:0000708	Atypical behavior	375298	CERKL	ORPHA:791
HP:0000708	Atypical behavior	3420	IDH3B	ORPHA:791
HP:0000708	Atypical behavior	57670	KIAA1549	ORPHA:791
HP:0000708	Atypical behavior	7275	TUB	ORPHA:791
HP:0000708	Atypical behavior	24148	PRPF6	ORPHA:791
HP:0000708	Atypical behavior	23418	CRB1	ORPHA:791
HP:0000708	Atypical behavior	10461	MERTK	ORPHA:791
HP:0000708	Atypical behavior	57709	SLC7A14	ORPHA:791
HP:0000708	Atypical behavior	768206	PRCD	ORPHA:791
HP:0000708	Atypical behavior	23370	ARHGEF18	ORPHA:791
HP:0000708	Atypical behavior	5949	RBP3	ORPHA:791
HP:0000708	Atypical behavior	6100	RP9	ORPHA:791
HP:0000708	Atypical behavior	9227	LRAT	ORPHA:791
HP:0000708	Atypical behavior	9227	LRAT	ORPHA:364055
HP:0000708	Atypical behavior	9227	LRAT	OMIM:613341
HP:0000708	Atypical behavior	84140	FAM161A	ORPHA:791
HP:0000708	Atypical behavior	55812	SPATA7	ORPHA:791
HP:0000708	Atypical behavior	55812	SPATA7	ORPHA:364055
HP:0000708	Atypical behavior	55624	POMGNT1	ORPHA:791
HP:0000708	Atypical behavior	403	ARL3	ORPHA:791
HP:0000708	Atypical behavior	5145	PDE6A	ORPHA:791
HP:0000708	Atypical behavior	10210	TOPORS	ORPHA:791
HP:0000708	Atypical behavior	9128	PRPF4	ORPHA:791
HP:0000708	Atypical behavior	145226	RDH12	ORPHA:791
HP:0000708	Atypical behavior	50939	IMPG2	ORPHA:791
HP:0000708	Atypical behavior	49855	SCAPER	ORPHA:791
HP:0000708	Atypical behavior	9742	IFT140	ORPHA:791
HP:0000708	Atypical behavior	2979	GUCA1B	ORPHA:791
HP:0000708	Atypical behavior	1259	CNGA1	ORPHA:791
HP:0000708	Atypical behavior	1258	CNGB1	ORPHA:791
HP:0000708	Atypical behavior	60509	AGBL5	ORPHA:791
HP:0000708	Atypical behavior	388939	PCARE	ORPHA:791
HP:0000708	Atypical behavior	7439	BEST1	ORPHA:791
HP:0000708	Atypical behavior	9785	DHX38	ORPHA:791
HP:0000708	Atypical behavior	7287	TULP1	ORPHA:791
HP:0000708	Atypical behavior	7287	TULP1	OMIM:613843
HP:0000708	Atypical behavior	5995	RGR	ORPHA:791
HP:0000708	Atypical behavior	9129	PRPF3	ORPHA:791
HP:0000708	Atypical behavior	55975	KLHL7	ORPHA:791
HP:0000708	Atypical behavior	3617	IMPG1	ORPHA:791
HP:0000708	Atypical behavior	94137	RP1L1	ORPHA:791
HP:0000708	Atypical behavior	5158	PDE6B	ORPHA:791
HP:0000708	Atypical behavior	6102	RP2	ORPHA:791
HP:0000708	Atypical behavior	55857	KIZ	ORPHA:791
HP:0000708	Atypical behavior	4901	NRL	ORPHA:791
HP:0000708	Atypical behavior	10594	PRPF8	ORPHA:791
HP:0000708	Atypical behavior	84100	ARL6	ORPHA:791
HP:0000708	Atypical behavior	6295	SAG	ORPHA:791
HP:0000708	Atypical behavior	79947	DHDDS	ORPHA:791
HP:0000708	Atypical behavior	8626	TP63	OMIM:604292
HP:0000708	Atypical behavior	8626	TP63	ORPHA:1896
HP:0000708	Atypical behavior	167691	LCA5	ORPHA:364055
HP:0000708	Atypical behavior	114902	C1QTNF5	ORPHA:67042
HP:0000708	Atypical behavior	83552	MFRP	OMIM:611040
HP:0000708	Atypical behavior	22861	NLRP1	OMIM:617388
HP:0000708	Atypical behavior	2784	GNB3	OMIM:617024
HP:0000708	Atypical behavior	84816	RTN4IP1	OMIM:616732
HP:0000708	Atypical behavior	11190	CEP250	OMIM:618358
HP:0000708	Atypical behavior	611	OPN1SW	ORPHA:88629
HP:0000708	Atypical behavior	10320	IKZF1	ORPHA:36426
HP:0000708	Atypical behavior	6768	ST14	OMIM:602400
HP:0000708	Atypical behavior	6898	TAT	ORPHA:28378
HP:0000708	Atypical behavior	9445	ITM2B	OMIM:616079
HP:0000708	Atypical behavior	6785	ELOVL4	OMIM:614457
HP:0000708	Atypical behavior	2202	EFEMP1	ORPHA:75376
HP:0000708	Atypical behavior	3075	CFH	ORPHA:75376
HP:0000708	Atypical behavior	3426	CFI	ORPHA:75376
HP:0000708	Atypical behavior	388531	RGS9BP	ORPHA:75374
HP:0000708	Atypical behavior	8787	RGS9	ORPHA:75374
HP:0000708	Atypical behavior	100996717	NOTCH2NLC	OMIM:619473
HP:0000708	Atypical behavior	4070	TACSTD2	OMIM:204870
HP:0000708	Atypical behavior	114548	NLRP3	OMIM:148200
HP:0000708	Atypical behavior	3257	HPS1	OMIM:203300
HP:0000708	Atypical behavior	1308	COL17A1	ORPHA:293381
HP:0000708	Atypical behavior	1308	COL17A1	OMIM:122400
HP:0000708	Atypical behavior	5422	POLA1	OMIM:301220
HP:0000708	Atypical behavior	22943	DKK1	ORPHA:268882
HP:0000708	Atypical behavior	10383	TUBB4B	OMIM:617879
HP:0000708	Atypical behavior	8139	GAN	OMIM:256850
HP:0000708	Atypical behavior	3030	HADHA	ORPHA:5
HP:0000708	Atypical behavior	23155	CLCC1	OMIM:609913
HP:0000708	Atypical behavior	10939	AFG3L2	OMIM:618977
HP:0000708	Atypical behavior	3852	KRT5	ORPHA:79396
HP:0000708	Atypical behavior	3861	KRT14	ORPHA:79396
HP:0000708	Atypical behavior	1374	CPT1A	ORPHA:156
HP:0000708	Atypical behavior	1738	DLD	ORPHA:2394
HP:0000708	Atypical behavior	26278	SACS	ORPHA:98
HP:0000708	Atypical behavior	4035	LRP1	ORPHA:79100
HP:0000708	Atypical behavior	10280	SIGMAR1	ORPHA:300605
HP:0000708	Atypical behavior	10558	SPTLC1	ORPHA:300605
HP:0000708	Atypical behavior	57679	ALS2	ORPHA:300605
HP:0000708	Atypical behavior	57165	GJC2	ORPHA:79452
HP:0000708	Atypical behavior	57609	DIP2B	OMIM:136630
HP:0000708	Atypical behavior	339855	KY	OMIM:617114
HP:0000708	Atypical behavior	79944	L2HGDH	ORPHA:79314
HP:0000708	Atypical behavior	51621	KLF13	OMIM:612001
HP:0000708	Atypical behavior	84162	BLTP1	OMIM:617822
HP:0000708	Atypical behavior	998	CDC42	OMIM:616737
HP:0000708	Atypical behavior	7132	TNFRSF1A	ORPHA:32960
HP:0000708	Atypical behavior	2632	GBE1	ORPHA:206583
HP:0000708	Atypical behavior	538	ATP7A	ORPHA:565
HP:0000708	Atypical behavior	389856	USP27X	OMIM:300984
HP:0000708	Atypical behavior	7403	KDM6A	OMIM:300867
HP:0000708	Atypical behavior	55670	PEX26	ORPHA:772
HP:0000708	Atypical behavior	5824	PEX19	ORPHA:772
HP:0000708	Atypical behavior	5828	PEX2	ORPHA:772
HP:0000708	Atypical behavior	8504	PEX3	ORPHA:772
HP:0000708	Atypical behavior	9409	PEX16	ORPHA:772
HP:0000708	Atypical behavior	5190	PEX6	ORPHA:772
HP:0000708	Atypical behavior	8799	PEX11B	ORPHA:772
HP:0000708	Atypical behavior	5830	PEX5	ORPHA:772
HP:0000708	Atypical behavior	5193	PEX12	ORPHA:772
HP:0000708	Atypical behavior	5194	PEX13	ORPHA:772
HP:0000708	Atypical behavior	5195	PEX14	ORPHA:772
HP:0000708	Atypical behavior	5192	PEX10	ORPHA:772
HP:0000708	Atypical behavior	27249	MMADHC	ORPHA:79283
HP:0000708	Atypical behavior	2036	EPB41L1	OMIM:614257
HP:0000708	Atypical behavior	60481	ELOVL5	ORPHA:423296
HP:0000708	Atypical behavior	4864	NPC1	OMIM:257220
HP:0000708	Atypical behavior	8364	H4C3	OMIM:619758
HP:0000708	Atypical behavior	57462	MYORG	OMIM:618317
HP:0000708	Atypical behavior	2212	FCGR2A	OMIM:152700
HP:0000708	Atypical behavior	2213	FCGR2B	OMIM:152700
HP:0000708	Atypical behavior	1493	CTLA4	OMIM:152700
HP:0000708	Atypical behavior	1773	DNASE1	OMIM:152700
HP:0000708	Atypical behavior	9990	SLC12A6	OMIM:218000
HP:0000708	Atypical behavior	54675	CRLS1	OMIM:620167
HP:0000708	Atypical behavior	27089	UQCRQ	OMIM:615159
HP:0000708	Atypical behavior	3242	HPD	OMIM:140350
HP:0000708	Atypical behavior	8518	ELP1	OMIM:223900
HP:0000708	Atypical behavior	1187	CLCNKA	ORPHA:89938
HP:0000708	Atypical behavior	4771	NF2	ORPHA:2495
HP:0000708	Atypical behavior	51684	SUFU	ORPHA:2495
HP:0000708	Atypical behavior	23503	ZFYVE26	OMIM:270700
HP:0000708	Atypical behavior	6834	SURF1	ORPHA:255241
HP:0000708	Atypical behavior	4723	NDUFV1	ORPHA:255241
HP:0000708	Atypical behavior	4729	NDUFV2	ORPHA:255241
HP:0000708	Atypical behavior	55967	NDUFA12	ORPHA:255241
HP:0000708	Atypical behavior	51204	TACO1	ORPHA:255241
HP:0000708	Atypical behavior	4724	NDUFS4	ORPHA:255241
HP:0000708	Atypical behavior	4728	NDUFS8	ORPHA:255241
HP:0000708	Atypical behavior	137682	NDUFAF6	ORPHA:255241
HP:0000708	Atypical behavior	4722	NDUFS3	ORPHA:255241
HP:0000708	Atypical behavior	79133	NDUFAF5	ORPHA:255241
HP:0000708	Atypical behavior	5160	PDHA1	ORPHA:255241
HP:0000708	Atypical behavior	100131801	PET100	ORPHA:255241
HP:0000708	Atypical behavior	1355	COX15	ORPHA:255241
HP:0000708	Atypical behavior	1892	ECHS1	ORPHA:255241
HP:0000708	Atypical behavior	51079	NDUFA13	ORPHA:255241
HP:0000708	Atypical behavior	374291	NDUFS7	ORPHA:255241
HP:0000708	Atypical behavior	4705	NDUFA10	ORPHA:255241
HP:0000708	Atypical behavior	51601	LIPT1	ORPHA:255241
HP:0000708	Atypical behavior	4704	NDUFA9	ORPHA:255241
HP:0000708	Atypical behavior	23162	MAPK8IP3	OMIM:618443
HP:0000708	Atypical behavior	727676	SNORD118	ORPHA:542310
HP:0000708	Atypical behavior	2583	B4GALNT1	OMIM:609195
HP:0000708	Atypical behavior	165918	RNF168	ORPHA:420741
HP:0000708	Atypical behavior	1352	COX10	OMIM:619046
HP:0000708	Atypical behavior	51816	ADA2	OMIM:615688
HP:0000708	Atypical behavior	3767	KCNJ11	ORPHA:276580
HP:0000708	Atypical behavior	1889	ECE1	OMIM:613870
HP:0000708	Atypical behavior	6821	SUOX	OMIM:272300
HP:0000708	Atypical behavior	3172	HNF4A	ORPHA:263455
HP:0000708	Atypical behavior	7351	UCP2	ORPHA:276556
HP:0000708	Atypical behavior	8974	P4HA2	ORPHA:397
HP:0000708	Atypical behavior	8722	CTSF	OMIM:615362
HP:0000708	Atypical behavior	23600	AMACR	ORPHA:79095
HP:0000708	Atypical behavior	23600	AMACR	OMIM:614307
HP:0000708	Atypical behavior	1763	DNA2	ORPHA:352470
HP:0000708	Atypical behavior	1763	DNA2	OMIM:615156
HP:0000708	Atypical behavior	2859	GPR35	ORPHA:171
HP:0000708	Atypical behavior	10507	SEMA4D	ORPHA:171
HP:0000708	Atypical behavior	4485	MST1	ORPHA:171
HP:0000708	Atypical behavior	1716	DGUOK	ORPHA:329314
HP:0000708	Atypical behavior	6575	SLC20A2	OMIM:213600
HP:0000708	Atypical behavior	1175	AP2S1	OMIM:600740
HP:0000708	Atypical behavior	6999	TDO2	OMIM:600627
HP:0000708	Atypical behavior	5566	PRKACA	OMIM:615830
HP:0000708	Atypical behavior	5566	PRKACA	ORPHA:189439
HP:0000708	Atypical behavior	8622	PDE8B	ORPHA:189439
HP:0000708	Atypical behavior	79798	ARMC5	OMIM:615954
HP:0000708	Atypical behavior	79798	ARMC5	ORPHA:189427
HP:0000708	Atypical behavior	2259	FGF14	ORPHA:98764
HP:0000708	Atypical behavior	2259	FGF14	OMIM:193003
HP:0000708	Atypical behavior	724066	ATXN8	ORPHA:98760
HP:0000708	Atypical behavior	5205	ATP8B1	ORPHA:69665
HP:0000708	Atypical behavior	8647	ABCB11	ORPHA:69665
HP:0000708	Atypical behavior	5244	ABCB4	ORPHA:69665
HP:0000708	Atypical behavior	9971	NR1H4	ORPHA:69665
HP:0000708	Atypical behavior	7201	TRHR	ORPHA:99832
HP:0000708	Atypical behavior	4568	MT-TL2	ORPHA:663
HP:0000708	Atypical behavior	4570	MT-TN	ORPHA:663
HP:0000708	Atypical behavior	84909	AOPEP	OMIM:619565
HP:0000708	Atypical behavior	57505	AARS2	OMIM:615889
HP:0000708	Atypical behavior	2289	FKBP5	OMIM:608516
HP:0000708	Atypical behavior	3759	KCNJ2	OMIM:170390
HP:0000708	Atypical behavior	8863	PER3	OMIM:616882
HP:0000708	Atypical behavior	9213	XPR1	OMIM:616413
HP:0000708	Atypical behavior	5133	PDCD1	OMIM:126200
HP:0000708	Atypical behavior	4810	NHS	OMIM:302350
HP:0000708	Atypical behavior	5980	REV3L	ORPHA:570
HP:0000708	Atypical behavior	23129	PLXND1	ORPHA:570
HP:0000708	Atypical behavior	10483	SEC23B	ORPHA:201
HP:0000708	Atypical behavior	207	AKT1	ORPHA:201
HP:0000708	Atypical behavior	205717	USF3	ORPHA:201
HP:0000708	Atypical behavior	100144748	KLLN	ORPHA:201
HP:0000708	Atypical behavior	372	ARCN1	OMIM:617164
HP:0000708	Atypical behavior	9487	PIGL	ORPHA:3474
HP:0000708	Atypical behavior	23405	DICER1	OMIM:618272
HP:0000708	Atypical behavior	4089	SMAD4	OMIM:139210
HP:0000708	Atypical behavior	4668	NAGA	ORPHA:79281
HP:0000708	Atypical behavior	4668	NAGA	ORPHA:79279
HP:0000708	Atypical behavior	10295	BCKDK	OMIM:614923
HP:0000708	Atypical behavior	5062	PAK2	OMIM:618458
HP:0000708	Atypical behavior	79581	SLC52A2	OMIM:614707
HP:0000708	Atypical behavior	81857	MED25	ORPHA:464738
HP:0000708	Atypical behavior	3953	LEPR	OMIM:614963
HP:0000708	Atypical behavior	23732	FRRS1L	ORPHA:725
HP:0000708	Atypical behavior	84992	PIGY	OMIM:616809
HP:0000708	Atypical behavior	80184	CEP290	OMIM:610188
HP:0000708	Atypical behavior	114327	EFHC1	ORPHA:307
HP:0000708	Atypical behavior	1181	CLCN2	ORPHA:307
HP:0000708	Atypical behavior	3786	KCNQ3	ORPHA:307
HP:0000708	Atypical behavior	22858	CILK1	ORPHA:307
HP:0000708	Atypical behavior	785	CACNB4	ORPHA:307
HP:0000708	Atypical behavior	4081	MAB21L1	OMIM:618479
HP:0000708	Atypical behavior	6301	SARS1	OMIM:617709
HP:0000708	Atypical behavior	5932	RBBP8	OMIM:251255
HP:0000708	Atypical behavior	11253	MAN1B1	OMIM:614202
HP:0000708	Atypical behavior	20	ABCA2	OMIM:618808
HP:0000708	Atypical behavior	953	ENTPD1	ORPHA:401810
HP:0000708	Atypical behavior	953	ENTPD1	OMIM:615683
HP:0000708	Atypical behavior	55180	LINS1	OMIM:614340
HP:0000708	Atypical behavior	163786	SASS6	OMIM:616402
HP:0000708	Atypical behavior	131669	UROC1	OMIM:276880
HP:0000708	Atypical behavior	6853	SYN1	ORPHA:85294
HP:0000708	Atypical behavior	6853	SYN1	OMIM:300491
HP:0000708	Atypical behavior	10531	PITRM1	OMIM:619405
HP:0000708	Atypical behavior	9056	SLC7A7	OMIM:222700
HP:0000708	Atypical behavior	6228	RPS23	OMIM:617412
HP:0000708	Atypical behavior	5361	PLXNA1	OMIM:619955
HP:0000708	Atypical behavior	9692	PRORP	OMIM:619737
HP:0000708	Atypical behavior	84879	MFSD2A	OMIM:616486
HP:0000708	Atypical behavior	57169	ZNFX1	OMIM:619644
HP:0000708	Atypical behavior	1742	DLG4	OMIM:618793
HP:0000708	Atypical behavior	4849	CNOT3	OMIM:618672
HP:0000708	Atypical behavior	10516	FBLN5	ORPHA:90348
HP:0000708	Atypical behavior	26173	INTS1	OMIM:618571
HP:0000708	Atypical behavior	6650	CAPN15	OMIM:619318
HP:0000708	Atypical behavior	6651	SON	OMIM:617140
HP:0000708	Atypical behavior	6651	SON	ORPHA:500150
HP:0000708	Atypical behavior	23414	ZFPM2	OMIM:616067
HP:0000708	Atypical behavior	3376	IARS1	ORPHA:541423
HP:0000708	Atypical behavior	23322	RPGRIP1L	OMIM:619113
HP:0000708	Atypical behavior	5702	PSMC3	OMIM:619354
HP:0000708	Atypical behavior	526	ATP6V1B2	ORPHA:79500
HP:0000708	Atypical behavior	79143	MBOAT7	OMIM:617188
HP:0000708	Atypical behavior	1984	EIF5A	OMIM:619376
HP:0000708	Atypical behavior	1496	CTNNA2	OMIM:618174
HP:0000708	Atypical behavior	221692	PHACTR1	OMIM:618298
HP:0000708	Atypical behavior	23443	SLC35A3	ORPHA:370943
HP:0000708	Atypical behavior	23443	SLC35A3	OMIM:615553
HP:0000708	Atypical behavior	84282	RNF135	ORPHA:137634
HP:0000708	Atypical behavior	93210	PGAP3	ORPHA:247262
HP:0000708	Atypical behavior	284098	PIGW	ORPHA:247262
HP:0000708	Atypical behavior	114034	TOE1	OMIM:614969
HP:0000708	Atypical behavior	23116	TOGARAM1	OMIM:619185
HP:0000708	Atypical behavior	1013	CDH15	OMIM:612580
HP:0000708	Atypical behavior	81846	SBF2	ORPHA:99956
HP:0000708	Atypical behavior	92154	MTSS2	OMIM:620086
HP:0000708	Atypical behavior	22845	DOLK	ORPHA:91131
HP:0000708	Atypical behavior	55593	OTUD5	OMIM:301056
HP:0000708	Atypical behavior	79587	CARS2	ORPHA:477774
HP:0000708	Atypical behavior	51524	TMEM138	ORPHA:2318
HP:0000708	Atypical behavior	23090	ZNF423	ORPHA:2318
HP:0000708	Atypical behavior	51259	TMEM216	ORPHA:2318
HP:0000708	Atypical behavior	57545	CC2D2A	ORPHA:2318
HP:0000708	Atypical behavior	58494	JAM2	OMIM:618824
HP:0000708	Atypical behavior	490	ATP2B1	OMIM:619910
HP:0000708	Atypical behavior	9918	NCAPD2	OMIM:617983
HP:0000708	Atypical behavior	7545	ZIC1	OMIM:618736
HP:0000708	Atypical behavior	6736	SRY	ORPHA:1772
HP:0000708	Atypical behavior	2137	EXTL3	ORPHA:508533
HP:0000708	Atypical behavior	5138	PDE2A	OMIM:619150
HP:0000708	Atypical behavior	2132	EXT2	OMIM:616682
HP:0000708	Atypical behavior	23241	PACS2	OMIM:618067
HP:0000708	Atypical behavior	91801	ALKBH8	OMIM:618504
HP:0000708	Atypical behavior	80155	NAA15	OMIM:617787
HP:0000708	Atypical behavior	80055	PGAP1	OMIM:615802
HP:0000708	Atypical behavior	7086	TKT	ORPHA:488618
HP:0000708	Atypical behavior	7086	TKT	OMIM:617044
HP:0000708	Atypical behavior	63908	NAPB	OMIM:620033
HP:0000708	Atypical behavior	3899	AFF3	OMIM:619297
HP:0000708	Atypical behavior	10381	TUBB3	ORPHA:300570
HP:0000708	Atypical behavior	10716	TBR1	OMIM:606053
HP:0000708	Atypical behavior	10087	CERT1	OMIM:616351
HP:0000708	Atypical behavior	1105	CHD1	OMIM:617682
HP:0000708	Atypical behavior	1105	CHD1	ORPHA:529965
HP:0000708	Atypical behavior	1656	DDX6	OMIM:618653
HP:0000708	Atypical behavior	4915	NTRK2	OMIM:613886
HP:0000708	Atypical behavior	4915	NTRK2	OMIM:617830
HP:0000708	Atypical behavior	53834	FGFRL1	OMIM:194190
HP:0000708	Atypical behavior	1487	CTBP1	OMIM:194190
HP:0000708	Atypical behavior	3954	LETM1	OMIM:194190
HP:0000708	Atypical behavior	10815	CPLX1	OMIM:194190
HP:0000708	Atypical behavior	4247	MGAT2	OMIM:212066
HP:0000708	Atypical behavior	253738	EBF3	OMIM:617330
HP:0000708	Atypical behavior	339983	NAT8L	OMIM:614063
HP:0000708	Atypical behavior	55773	TBC1D23	OMIM:617695
HP:0000708	Atypical behavior	116115	ZNF526	OMIM:619877
HP:0000708	Atypical behavior	5590	PRKCZ	ORPHA:1606
HP:0000708	Atypical behavior	23013	SPEN	ORPHA:1606
HP:0000708	Atypical behavior	23013	SPEN	OMIM:619312
HP:0000708	Atypical behavior	8510	MMP23B	ORPHA:1606
HP:0000708	Atypical behavior	7798	LUZP1	ORPHA:1606
HP:0000708	Atypical behavior	6497	SKI	ORPHA:1606
HP:0000708	Atypical behavior	10630	PDPN	ORPHA:1606
HP:0000708	Atypical behavior	10277	UBE4B	ORPHA:1606
HP:0000708	Atypical behavior	8514	KCNAB2	ORPHA:1606
HP:0000708	Atypical behavior	473	RERE	ORPHA:1606
HP:0000708	Atypical behavior	63976	PRDM16	ORPHA:1606
HP:0000708	Atypical behavior	54897	CASZ1	ORPHA:1606
HP:0000708	Atypical behavior	10236	HNRNPR	OMIM:620073
HP:0000708	Atypical behavior	7750	ZMYM2	OMIM:619522
HP:0000708	Atypical behavior	3800	KIF5C	OMIM:615282
HP:0000708	Atypical behavior	9338	TCEAL1	OMIM:301094
HP:0000708	Atypical behavior	4208	MEF2C	ORPHA:228384
HP:0000708	Atypical behavior	4208	MEF2C	OMIM:613443
HP:0000708	Atypical behavior	4677	NARS1	OMIM:619092
HP:0000708	Atypical behavior	23219	FBXO28	OMIM:619777
HP:0000708	Atypical behavior	1107	CHD3	OMIM:618205
HP:0000708	Atypical behavior	2702	GJA5	OMIM:612474
HP:0000708	Atypical behavior	2703	GJA8	OMIM:612474
HP:0000708	Atypical behavior	7407	VARS1	OMIM:617802
HP:0000708	Atypical behavior	9230	RAB11B	OMIM:617807
HP:0000708	Atypical behavior	56896	DPYSL5	OMIM:619435
HP:0000708	Atypical behavior	5515	PPP2CA	OMIM:618354
HP:0000708	Atypical behavior	23291	FBXW11	OMIM:618914
HP:0000708	Atypical behavior	2891	GRIA2	OMIM:618917
HP:0000708	Atypical behavior	23499	MACF1	ORPHA:572013
HP:0000708	Atypical behavior	387119	CEP85L	ORPHA:572013
HP:0000708	Atypical behavior	6904	TBCD	ORPHA:496641
HP:0000708	Atypical behavior	5934	RBL2	OMIM:619690
HP:0000708	Atypical behavior	55250	ELP2	OMIM:617270
HP:0000708	Atypical behavior	57551	TAOK1	OMIM:619575
HP:0000708	Atypical behavior	23221	RHOBTB2	OMIM:618004
HP:0000708	Atypical behavior	63035	BCORL1	OMIM:301029
HP:0000708	Atypical behavior	85440	DOCK7	ORPHA:411986
HP:0000708	Atypical behavior	8567	MADD	OMIM:619005
HP:0000708	Atypical behavior	6472	SHMT2	OMIM:619121
HP:0000708	Atypical behavior	10717	AP4B1	ORPHA:280763
HP:0000708	Atypical behavior	9179	AP4M1	ORPHA:280763
HP:0000708	Atypical behavior	11154	AP4S1	ORPHA:280763
HP:0000708	Atypical behavior	23431	AP4E1	ORPHA:280763
HP:0000708	Atypical behavior	10577	NPC2	OMIM:607625
HP:0000708	Atypical behavior	5528	PPP2R5D	ORPHA:457279
HP:0000708	Atypical behavior	91147	TMEM67	OMIM:610688
HP:0000708	Atypical behavior	8942	KYNU	ORPHA:79155
HP:0000708	Atypical behavior	2512	FTL	OMIM:606159
HP:0000708	Atypical behavior	6683	SPAST	OMIM:182601
HP:0000708	Atypical behavior	388015	RTL1	ORPHA:254531
HP:0000708	Atypical behavior	8788	DLK1	ORPHA:254531
HP:0000708	Atypical behavior	55384	MEG3	ORPHA:254531
HP:0000708	Atypical behavior	10771	ZMYND11	OMIM:616083
HP:0000708	Atypical behavior	84894	LINGO1	OMIM:618103
HP:0000708	Atypical behavior	440138	ALG11	ORPHA:280071
HP:0000708	Atypical behavior	22871	NLGN1	OMIM:618830
HP:0000708	Atypical behavior	4123	MAN2C1	OMIM:619775
HP:0000708	Atypical behavior	5119	CHMP1A	OMIM:614961
HP:0000708	Atypical behavior	5728	PTEN	OMIM:605309
HP:0000708	Atypical behavior	23345	SYNE1	ORPHA:88644
HP:0000708	Atypical behavior	123606	NIPA1	ORPHA:261183
HP:0000708	Atypical behavior	7283	TUBG1	ORPHA:261183
HP:0000708	Atypical behavior	81614	NIPA2	ORPHA:261183
HP:0000708	Atypical behavior	1213	CLTC	OMIM:617854
HP:0000708	Atypical behavior	79048	SECISBP2	ORPHA:171706
HP:0000708	Atypical behavior	79631	EFL1	ORPHA:811
HP:0000708	Atypical behavior	51119	SBDS	ORPHA:811
HP:0000708	Atypical behavior	6729	SRP54	ORPHA:811
HP:0000708	Atypical behavior	1027	CDKN1B	ORPHA:652
HP:0000708	Atypical behavior	1026	CDKN1A	ORPHA:652
HP:0000708	Atypical behavior	1030	CDKN2B	ORPHA:652
HP:0000708	Atypical behavior	1031	CDKN2C	ORPHA:652
HP:0000708	Atypical behavior	54496	PRMT7	OMIM:617157
HP:0000708	Atypical behavior	55084	SOBP	OMIM:613671
HP:0000708	Atypical behavior	549	AUH	OMIM:250950
HP:0000708	Atypical behavior	191	AHCY	ORPHA:88618
HP:0000708	Atypical behavior	23309	SIN3B	ORPHA:500166
HP:0000708	Atypical behavior	84274	COQ5	OMIM:619028
HP:0000708	Atypical behavior	867	CBL	OMIM:613563
HP:0000708	Atypical behavior	4281	MID1	ORPHA:2745
HP:0000708	Atypical behavior	80208	SPG11	ORPHA:2822
HP:0000708	Atypical behavior	5009	OTC	OMIM:311250
HP:0000708	Atypical behavior	4897	NRCAM	OMIM:619833
HP:0000708	Atypical behavior	51218	GLRX5	ORPHA:401866
HP:0000708	Atypical behavior	6531	SLC6A3	ORPHA:238455
HP:0000708	Atypical behavior	249	ALPL	OMIM:241500
HP:0000708	Atypical behavior	51506	UFC1	OMIM:618076
HP:0000708	Atypical behavior	644096	SDHAF1	OMIM:619166
HP:0000708	Atypical behavior	644096	SDHAF1	ORPHA:3208
HP:0000708	Atypical behavior	6487	ST3GAL3	OMIM:615006
HP:0000708	Atypical behavior	3141	HLCS	OMIM:253270
HP:0000708	Atypical behavior	3141	HLCS	ORPHA:79242
HP:0000708	Atypical behavior	271	AMPD2	OMIM:615809
HP:0000708	Atypical behavior	105371045	PERCC1	ORPHA:92050
HP:0000708	Atypical behavior	25839	COG4	ORPHA:263501
HP:0000708	Atypical behavior	25839	COG4	OMIM:613489
HP:0000708	Atypical behavior	55687	TRMU	OMIM:613070
HP:0000708	Atypical behavior	103	ADAR	OMIM:615010
HP:0000708	Atypical behavior	103	ADAR	ORPHA:51
HP:0000708	Atypical behavior	7084	TK2	OMIM:609560
HP:0000708	Atypical behavior	2055	CLN8	OMIM:610003
HP:0000708	Atypical behavior	501	ALDH7A1	ORPHA:3006
HP:0000708	Atypical behavior	11212	PLPBP	ORPHA:3006
HP:0000708	Atypical behavior	11212	PLPBP	OMIM:617290
HP:0000708	Atypical behavior	10273	STUB1	OMIM:618093
HP:0000708	Atypical behavior	1594	CYP27B1	OMIM:264700
HP:0000708	Atypical behavior	1594	CYP27B1	ORPHA:289157
HP:0000708	Atypical behavior	8789	FBP2	OMIM:619864
HP:0000708	Atypical behavior	1641	DCX	ORPHA:2148
HP:0000708	Atypical behavior	4338	MOCS2	OMIM:252160
HP:0000708	Atypical behavior	113235	SLC46A1	OMIM:229050
HP:0000708	Atypical behavior	112476	PRRT2	ORPHA:98811
HP:0000708	Atypical behavior	788	SLC25A20	ORPHA:159
HP:0000708	Atypical behavior	788	SLC25A20	OMIM:212138
HP:0000708	Atypical behavior	1267	CNP	OMIM:619071
HP:0000708	Atypical behavior	3043	HBB	ORPHA:231214
HP:0000708	Atypical behavior	3043	HBB	ORPHA:231226
HP:0000708	Atypical behavior	149371	EXOC8	OMIM:619076
HP:0000708	Atypical behavior	120227	CYP2R1	ORPHA:289157
HP:0000708	Atypical behavior	54914	FOCAD	OMIM:619991
HP:0000708	Atypical behavior	80704	SLC19A3	OMIM:607483
HP:0000708	Atypical behavior	80704	SLC19A3	ORPHA:263410
HP:0000708	Atypical behavior	6609	SMPD1	OMIM:257200
HP:0000708	Atypical behavior	2203	FBP1	ORPHA:348
HP:0000708	Atypical behavior	2203	FBP1	OMIM:229700
HP:0000708	Atypical behavior	5551	PRF1	OMIM:603553
HP:0000708	Atypical behavior	79796	ALG9	ORPHA:79328
HP:0000708	Atypical behavior	1615	DARS1	OMIM:615281
HP:0000708	Atypical behavior	554	AVPR2	OMIM:304800
HP:0000708	Atypical behavior	554	AVPR2	OMIM:300539
HP:0000708	Atypical behavior	6506	SLC1A2	OMIM:617105
HP:0000708	Atypical behavior	64135	IFIH1	OMIM:615846
HP:0000708	Atypical behavior	64135	IFIH1	ORPHA:51
HP:0000708	Atypical behavior	55739	NAXD	OMIM:618321
HP:0000708	Atypical behavior	5741	PTH	OMIM:146200
HP:0000708	Atypical behavior	55275	VPS53	OMIM:615851
HP:0000708	Atypical behavior	445	ASS1	OMIM:215700
HP:0000708	Atypical behavior	2778	GNAS	ORPHA:79443
HP:0000708	Atypical behavior	2778	GNAS	ORPHA:79444
HP:0000708	Atypical behavior	2778	GNAS	ORPHA:94089
HP:0000708	Atypical behavior	3339	HSPG2	ORPHA:800
HP:0000708	Atypical behavior	28962	OSTM1	OMIM:259720
HP:0000708	Atypical behavior	11277	TREX1	ORPHA:247691
HP:0000708	Atypical behavior	11277	TREX1	ORPHA:51
HP:0000708	Atypical behavior	6576	SLC25A1	OMIM:615182
HP:0000708	Atypical behavior	10535	RNASEH2A	ORPHA:51
HP:0000708	Atypical behavior	84153	RNASEH2C	ORPHA:51
HP:0000708	Atypical behavior	25939	SAMHD1	ORPHA:51
HP:0000708	Atypical behavior	25939	SAMHD1	OMIM:612952
HP:0000708	Atypical behavior	79621	RNASEH2B	ORPHA:51
HP:0000708	Atypical behavior	134353	LSM11	ORPHA:51
HP:0000708	Atypical behavior	134353	LSM11	OMIM:619486
HP:0000708	Atypical behavior	149233	IL23R	ORPHA:117
HP:0000708	Atypical behavior	6775	STAT4	ORPHA:117
HP:0000708	Atypical behavior	3586	IL10	ORPHA:117
HP:0000708	Atypical behavior	4210	MEFV	ORPHA:117
HP:0000708	Atypical behavior	1230	CCR1	ORPHA:117
HP:0000708	Atypical behavior	355	FAS	ORPHA:117
HP:0000708	Atypical behavior	101928376	IL12A-AS1	ORPHA:117
HP:0000708	Atypical behavior	3106	HLA-B	ORPHA:117
HP:0000708	Atypical behavior	7099	TLR4	ORPHA:117
HP:0000708	Atypical behavior	3459	IFNGR1	ORPHA:117
HP:0000708	Atypical behavior	720	C4A	ORPHA:117
HP:0000708	Atypical behavior	337867	UBAC2	ORPHA:117
HP:0000708	Atypical behavior	51752	ERAP1	ORPHA:117
HP:0000708	Atypical behavior	8302	KLRC4	ORPHA:117
HP:0000708	Atypical behavior	79876	UBA5	OMIM:617132
HP:0000708	Atypical behavior	23516	SLC39A14	OMIM:617013
HP:0000708	Atypical behavior	359	AQP2	OMIM:125800
HP:0000708	Atypical behavior	4719	NDUFS1	OMIM:618226
HP:0000708	Atypical behavior	65062	TMEM237	OMIM:614424
HP:0000708	Atypical behavior	6948	TCN2	OMIM:275350
HP:0000708	Atypical behavior	9256	TSPOAP1	ORPHA:101150
HP:0000708	Atypical behavior	7054	TH	ORPHA:101150
HP:0000708	Atypical behavior	8675	STX16	ORPHA:94089
HP:0000708	Atypical behavior	2581	GALC	ORPHA:206443
HP:0000708	Atypical behavior	2581	GALC	ORPHA:206436
HP:0000708	Atypical behavior	55610	VPS50	OMIM:619685
HP:0000708	Atypical behavior	6567	SLC16A2	OMIM:300523
HP:0000708	Atypical behavior	64801	ARV1	OMIM:617020
HP:0000708	Atypical behavior	4695	NDUFA2	OMIM:618235
HP:0000708	Atypical behavior	10978	CLP1	ORPHA:411493
HP:0000708	Atypical behavior	29078	NDUFAF4	OMIM:618237
HP:0000708	Atypical behavior	6833	ABCC8	OMIM:240800
HP:0000708	Atypical behavior	4868	NPHS1	ORPHA:656
HP:0000708	Atypical behavior	23607	CD2AP	ORPHA:656
HP:0000708	Atypical behavior	9688	NUP93	ORPHA:656
HP:0000708	Atypical behavior	4643	MYO1E	ORPHA:656
HP:0000708	Atypical behavior	64423	INF2	ORPHA:656
HP:0000708	Atypical behavior	26130	GAPVD1	ORPHA:656
HP:0000708	Atypical behavior	7490	WT1	ORPHA:656
HP:0000708	Atypical behavior	57122	NUP107	ORPHA:656
HP:0000708	Atypical behavior	51479	ANKFY1	ORPHA:656
HP:0000708	Atypical behavior	54443	ANLN	ORPHA:656
HP:0000708	Atypical behavior	5800	PTPRO	ORPHA:656
HP:0000708	Atypical behavior	286204	CRB2	ORPHA:656
HP:0000708	Atypical behavior	23165	NUP205	ORPHA:656
HP:0000708	Atypical behavior	2013	EMP2	ORPHA:656
HP:0000708	Atypical behavior	79023	NUP37	ORPHA:656
HP:0000708	Atypical behavior	51196	PLCE1	ORPHA:656
HP:0000708	Atypical behavior	79902	NUP85	ORPHA:656
HP:0000708	Atypical behavior	1285	COL4A3	ORPHA:656
HP:0000708	Atypical behavior	396	ARHGDIA	ORPHA:656
HP:0000708	Atypical behavior	79934	COQ8B	ORPHA:656
HP:0000708	Atypical behavior	23279	NUP160	ORPHA:656
HP:0000708	Atypical behavior	9863	MAGI2	ORPHA:656
HP:0000708	Atypical behavior	81	ACTN4	ORPHA:656
HP:0000708	Atypical behavior	7225	TRPC6	ORPHA:656
HP:0000708	Atypical behavior	8542	APOL1	ORPHA:656
HP:0000708	Atypical behavior	54885	TBC1D8B	ORPHA:656
HP:0000708	Atypical behavior	7827	NPHS2	ORPHA:656
HP:0000708	Atypical behavior	83478	ARHGAP24	ORPHA:656
HP:0000708	Atypical behavior	23500	DAAM2	ORPHA:656
HP:0000708	Atypical behavior	5076	PAX2	ORPHA:656
HP:0000708	Atypical behavior	55746	NUP133	ORPHA:656
HP:0000708	Atypical behavior	8869	ST3GAL5	OMIM:609056
HP:0000708	Atypical behavior	10588	MTHFS	OMIM:618367
HP:0000708	Atypical behavior	55572	FOXRED1	OMIM:618241
HP:0000708	Atypical behavior	8260	NAA10	OMIM:300855
HP:0000708	Atypical behavior	29920	PYCR2	ORPHA:481152
HP:0000708	Atypical behavior	55630	SLC39A4	OMIM:201100
HP:0000708	Atypical behavior	11342	RNF13	OMIM:618379
HP:0000708	Atypical behavior	11342	RNF13	ORPHA:544503
HP:0000708	Atypical behavior	4700	NDUFA6	OMIM:618253
HP:0000708	Atypical behavior	427	ASAH1	OMIM:228000
HP:0000708	Atypical behavior	7421	VDR	OMIM:277440
HP:0000708	Atypical behavior	26227	PHGDH	ORPHA:79351
HP:0000708	Atypical behavior	60386	SLC25A19	ORPHA:99742
HP:0000708	Atypical behavior	60386	SLC25A19	OMIM:607196
HP:0000708	Atypical behavior	5092	PCBD1	ORPHA:1578
HP:0000708	Atypical behavior	11340	EXOSC8	OMIM:616081
HP:0000708	Atypical behavior	5167	ENPP1	ORPHA:51608
HP:0000708	Atypical behavior	368	ABCC6	ORPHA:51608
HP:0000708	Atypical behavior	51501	HIKESHI	OMIM:616881
HP:0000708	Atypical behavior	435	ASL	OMIM:207900
HP:0000708	Atypical behavior	3704	ITPA	OMIM:616647
HP:0000708	Atypical behavior	2222	FDFT1	OMIM:618156
HP:0000708	Atypical behavior	90522	YIF1B	OMIM:619125
HP:0000708	Atypical behavior	374354	NHLRC2	OMIM:618278
HP:0000708	Atypical behavior	128240	NAXE	OMIM:617186
HP:0000708	Atypical behavior	2893	GRIA4	OMIM:617864
HP:0000708	Atypical behavior	57570	TRMT5	OMIM:616539
HP:0000708	Atypical behavior	2998	GYS2	ORPHA:2089
HP:0000708	Atypical behavior	1786	DNMT1	OMIM:614116
HP:0000708	Atypical behavior	51	ACOX1	OMIM:264470
HP:0000708	Atypical behavior	5805	PTS	OMIM:261640
HP:0000708	Atypical behavior	551	AVP	ORPHA:30925
HP:0000708	Atypical behavior	200205	IBA57	OMIM:615330
HP:0000708	Atypical behavior	4508	MT-ATP6	ORPHA:644
HP:0000708	Atypical behavior	5860	QDPR	OMIM:261630
HP:0000708	Atypical behavior	8803	SUCLA2	OMIM:612073
HP:0000708	Atypical behavior	498	ATP5F1A	OMIM:615228
HP:0000708	Atypical behavior	1373	CPS1	OMIM:237300
HP:0000708	Atypical behavior	6515	SLC2A3	ORPHA:399
HP:0000708	Atypical behavior	7399	USH2A	ORPHA:231178
HP:0000708	Atypical behavior	79955	PDZD7	ORPHA:231178
HP:0000708	Atypical behavior	4647	MYO7A	ORPHA:231178
HP:0000708	Atypical behavior	4647	MYO7A	ORPHA:231169
HP:0000708	Atypical behavior	25861	WHRN	ORPHA:231178
HP:0000708	Atypical behavior	84059	ADGRV1	ORPHA:231178
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309256
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309271
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309263
HP:0000708	Atypical behavior	410	ARSA	OMIM:250100
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309256
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309271
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309263
HP:0000708	Atypical behavior	1629	DBT	OMIM:248600
HP:0000708	Atypical behavior	593	BCKDHA	OMIM:248600
HP:0000708	Atypical behavior	594	BCKDHB	OMIM:248600
HP:0000708	Atypical behavior	54902	TTC19	OMIM:615157
HP:0000708	Atypical behavior	80067	DCAF17	ORPHA:3464
HP:0000708	Atypical behavior	80067	DCAF17	OMIM:241080
HP:0000708	Atypical behavior	2521	FUS	ORPHA:275872
HP:0000708	Atypical behavior	23435	TARDBP	ORPHA:275872
HP:0000708	Atypical behavior	400916	CHCHD10	ORPHA:275872
HP:0000708	Atypical behavior	203228	C9orf72	OMIM:105550
HP:0000708	Atypical behavior	4072	EPCAM	ORPHA:144
HP:0000708	Atypical behavior	4292	MLH1	ORPHA:144
HP:0000708	Atypical behavior	5395	PMS2	ORPHA:144
HP:0000708	Atypical behavior	27030	MLH3	ORPHA:144
HP:0000708	Atypical behavior	22909	FAN1	ORPHA:144
HP:0000708	Atypical behavior	7048	TGFBR2	ORPHA:144
HP:0000708	Atypical behavior	5290	PIK3CA	ORPHA:144
HP:0000708	Atypical behavior	2956	MSH6	ORPHA:144
HP:0000708	Atypical behavior	5378	PMS1	ORPHA:144
HP:0000708	Atypical behavior	4436	MSH2	ORPHA:144
HP:0000708	Atypical behavior	4125	MAN2B1	ORPHA:309282
HP:0000708	Atypical behavior	4125	MAN2B1	ORPHA:309288
HP:0000708	Atypical behavior	64218	SEMA4A	ORPHA:440437
HP:0000708	Atypical behavior	657	BMPR1A	ORPHA:440437
HP:0000708	Atypical behavior	6224	RPS20	ORPHA:440437
HP:0000708	Atypical behavior	1312	COMT	OMIM:181500
HP:0000708	Atypical behavior	23780	APOL2	OMIM:181500
HP:0000708	Atypical behavior	267012	DAOA	OMIM:181500
HP:0000708	Atypical behavior	3356	HTR2A	OMIM:181500
HP:0000708	Atypical behavior	6854	SYN2	OMIM:181500
HP:0000708	Atypical behavior	1814	DRD3	OMIM:181500
HP:0000708	Atypical behavior	4524	MTHFR	OMIM:181500
HP:0000708	Atypical behavior	27184	DISC2	OMIM:181500
HP:0000708	Atypical behavior	65078	RTN4R	OMIM:181500
HP:0000708	Atypical behavior	80832	APOL4	OMIM:181500
HP:0000708	Atypical behavior	1116	CHI3L1	OMIM:181500
HP:0000708	Atypical behavior	51114	ZDHHC9	ORPHA:776
HP:0000708	Atypical behavior	65109	UPF3B	ORPHA:776
HP:0000708	Atypical behavior	617	BCS1L	OMIM:124000
HP:0000708	Atypical behavior	7401	CLRN1	ORPHA:231183
HP:0000708	Atypical behavior	22901	ARSG	ORPHA:231183
HP:0000708	Atypical behavior	3035	HARS1	ORPHA:231183
HP:0000708	Atypical behavior	84131	CEP78	ORPHA:231183
HP:0000708	Atypical behavior	4976	OPA1	ORPHA:98673
HP:0000708	Atypical behavior	210	ALAD	ORPHA:100924
HP:0000708	Atypical behavior	57393	CLTRN	ORPHA:2116
HP:0000708	Atypical behavior	10452	TOMM40	ORPHA:1020
HP:0000708	Atypical behavior	351	APP	ORPHA:1020
HP:0000708	Atypical behavior	10347	ABCA7	ORPHA:1020
HP:0000708	Atypical behavior	6653	SORL1	ORPHA:1020
HP:0000708	Atypical behavior	7276	TTR	OMIM:105210
HP:0000708	Atypical behavior	5654	HTRA1	OMIM:600142
HP:0000708	Atypical behavior	10083	USH1C	ORPHA:231169
HP:0000708	Atypical behavior	124590	USH1G	ORPHA:231169
HP:0000708	Atypical behavior	83715	ESPN	ORPHA:231169
HP:0000708	Atypical behavior	10518	CIB2	ORPHA:231169
HP:0000708	Atypical behavior	65217	PCDH15	ORPHA:231169
HP:0000708	Atypical behavior	8295	TRRAP	OMIM:618454
HP:0000708	Atypical behavior	2186	BPTF	ORPHA:529962
HP:0000708	Atypical behavior	51142	CHCHD2	OMIM:616710
HP:0000708	Atypical behavior	2554	GABRA1	ORPHA:64280
HP:0000708	Atypical behavior	2554	GABRA1	ORPHA:33069
HP:0000708	Atypical behavior	8912	CACNA1H	ORPHA:64280
HP:0000708	Atypical behavior	8629	JRK	ORPHA:64280
HP:0000708	Atypical behavior	2566	GABRG2	ORPHA:64280
HP:0000708	Atypical behavior	2566	GABRG2	ORPHA:36387
HP:0000708	Atypical behavior	2566	GABRG2	ORPHA:1945
HP:0000708	Atypical behavior	2566	GABRG2	ORPHA:33069
HP:0000708	Atypical behavior	7384	UQCRC1	OMIM:619279
HP:0000708	Atypical behavior	50651	SLC45A1	OMIM:617532
HP:0000708	Atypical behavior	6938	TCF12	OMIM:619718
HP:0000708	Atypical behavior	3008	H1-4	OMIM:617537
HP:0000708	Atypical behavior	10060	ABCC9	OMIM:619719
HP:0000708	Atypical behavior	478	ATP1A3	OMIM:128235
HP:0000708	Atypical behavior	478	ATP1A3	ORPHA:71517
HP:0000708	Atypical behavior	64324	NSD1	ORPHA:821
HP:0000708	Atypical behavior	29072	SETD2	ORPHA:821
HP:0000708	Atypical behavior	29072	SETD2	OMIM:616831
HP:0000708	Atypical behavior	5521	PPP2R2B	OMIM:604326
HP:0000708	Atypical behavior	4312	MMP1	ORPHA:79408
HP:0000708	Atypical behavior	1294	COL7A1	ORPHA:79408
HP:0000708	Atypical behavior	1294	COL7A1	ORPHA:89842
HP:0000708	Atypical behavior	3074	HEXB	ORPHA:309169
HP:0000708	Atypical behavior	9578	CDC42BPB	OMIM:619841
HP:0000708	Atypical behavior	7532	YWHAG	OMIM:617665
HP:0000708	Atypical behavior	50940	PDE11A	OMIM:610475
HP:0000708	Atypical behavior	55904	KMT2E	OMIM:618512
HP:0000708	Atypical behavior	10847	SRCAP	ORPHA:2044
HP:0000708	Atypical behavior	27102	EIF2AK1	OMIM:618878
HP:0000708	Atypical behavior	6660	SOX5	ORPHA:313892
HP:0000708	Atypical behavior	6660	SOX5	OMIM:616803
HP:0000708	Atypical behavior	55154	MSTO1	OMIM:617675
HP:0000708	Atypical behavior	55154	MSTO1	ORPHA:502423
HP:0000708	Atypical behavior	50484	RRM2B	OMIM:613077
HP:0000708	Atypical behavior	50484	RRM2B	ORPHA:254892
HP:0000708	Atypical behavior	10352	WARS2	OMIM:619738
HP:0000708	Atypical behavior	3117	HLA-DQA1	OMIM:212750
HP:0000708	Atypical behavior	9049	AIP	ORPHA:963
HP:0000708	Atypical behavior	64919	BCL11B	OMIM:618092
HP:0000708	Atypical behavior	5159	PDGFRB	OMIM:616592
HP:0000708	Atypical behavior	79152	FA2H	ORPHA:329308
HP:0000708	Atypical behavior	5813	PURA	ORPHA:438216
HP:0000708	Atypical behavior	27235	COQ2	ORPHA:98933
HP:0000708	Atypical behavior	27235	COQ2	ORPHA:227510
HP:0000708	Atypical behavior	6335	SCN9A	ORPHA:36387
HP:0000708	Atypical behavior	6335	SCN9A	ORPHA:33069
HP:0000708	Atypical behavior	112755	STX1B	ORPHA:36387
HP:0000708	Atypical behavior	2563	GABRD	ORPHA:36387
HP:0000708	Atypical behavior	348980	HCN1	ORPHA:36387
HP:0000708	Atypical behavior	84138	SLC7A6OS	OMIM:619191
HP:0000708	Atypical behavior	8493	PPM1D	OMIM:617450
HP:0000708	Atypical behavior	2324	FLT4	OMIM:618780
HP:0000708	Atypical behavior	54499	TMCO1	OMIM:213980
HP:0000708	Atypical behavior	51284	TLR7	OMIM:301080
HP:0000708	Atypical behavior	23137	SMC5	OMIM:620185
HP:0000708	Atypical behavior	111	ADCY5	OMIM:606703
HP:0000708	Atypical behavior	111	ADCY5	OMIM:619651
HP:0000708	Atypical behavior	2947	GSTM3	ORPHA:586
HP:0000708	Atypical behavior	7040	TGFB1	ORPHA:586
HP:0000708	Atypical behavior	2729	GCLC	ORPHA:586
HP:0000708	Atypical behavior	1084	CEACAM3	ORPHA:586
HP:0000708	Atypical behavior	6556	SLC11A1	ORPHA:586
HP:0000708	Atypical behavior	51164	DCTN4	ORPHA:586
HP:0000708	Atypical behavior	3783	KCNN4	ORPHA:586
HP:0000708	Atypical behavior	4282	MIF	ORPHA:586
HP:0000708	Atypical behavior	1909	EDNRA	ORPHA:586
HP:0000708	Atypical behavior	6550	SLC9A3	ORPHA:586
HP:0000708	Atypical behavior	3162	HMOX1	ORPHA:586
HP:0000708	Atypical behavior	115019	SLC26A9	ORPHA:586
HP:0000708	Atypical behavior	3077	HFE	ORPHA:586
HP:0000708	Atypical behavior	11254	SLC6A14	ORPHA:586
HP:0000708	Atypical behavior	5265	SERPINA1	ORPHA:586
HP:0000708	Atypical behavior	1080	CFTR	ORPHA:586
HP:0000708	Atypical behavior	22802	CLCA4	ORPHA:586
HP:0000708	Atypical behavior	4680	CEACAM6	ORPHA:586
HP:0000708	Atypical behavior	27086	FOXP1	ORPHA:391372
HP:0000708	Atypical behavior	27086	FOXP1	OMIM:613670
HP:0000708	Atypical behavior	200424	TET3	OMIM:618798
HP:0000708	Atypical behavior	54941	RNF125	OMIM:616260
HP:0000708	Atypical behavior	57479	PRR12	OMIM:619539
HP:0000708	Atypical behavior	162417	NAGS	ORPHA:927
HP:0000708	Atypical behavior	3178	HNRNPA1	ORPHA:803
HP:0000708	Atypical behavior	8148	TAF15	ORPHA:803
HP:0000708	Atypical behavior	5445	PON2	ORPHA:803
HP:0000708	Atypical behavior	9217	VAPB	ORPHA:803
HP:0000708	Atypical behavior	5630	PRPH	ORPHA:803
HP:0000708	Atypical behavior	55830	GLT8D1	ORPHA:803
HP:0000708	Atypical behavior	755	CFAP410	ORPHA:803
HP:0000708	Atypical behavior	10891	PPARGC1A	ORPHA:803
HP:0000708	Atypical behavior	6647	SOD1	ORPHA:803
HP:0000708	Atypical behavior	10133	OPTN	ORPHA:803
HP:0000708	Atypical behavior	5444	PON1	ORPHA:803
HP:0000708	Atypical behavior	5446	PON3	ORPHA:803
HP:0000708	Atypical behavior	4744	NEFH	ORPHA:803
HP:0000708	Atypical behavior	5216	PFN1	ORPHA:803
HP:0000708	Atypical behavior	9782	MATR3	ORPHA:803
HP:0000708	Atypical behavior	283	ANG	ORPHA:803
HP:0000708	Atypical behavior	29978	UBQLN2	ORPHA:803
HP:0000708	Atypical behavior	2733	GLE1	ORPHA:803
HP:0000708	Atypical behavior	4750	NEK1	ORPHA:803
HP:0000708	Atypical behavior	2043	EPHA4	ORPHA:803
HP:0000708	Atypical behavior	1610	DAO	ORPHA:803
HP:0000708	Atypical behavior	2066	ERBB4	ORPHA:803
HP:0000708	Atypical behavior	311	ANXA11	ORPHA:803
HP:0000708	Atypical behavior	23025	UNC13A	ORPHA:803
HP:0000708	Atypical behavior	899	CCNF	ORPHA:803
HP:0000708	Atypical behavior	27286	SRPX2	ORPHA:1945
HP:0000708	Atypical behavior	84978	FRMD5	OMIM:620094
HP:0000708	Atypical behavior	80199	FUZ	ORPHA:1136
HP:0000708	Atypical behavior	11232	POLG2	OMIM:619425
HP:0000708	Atypical behavior	11232	POLG2	ORPHA:254892
HP:0000708	Atypical behavior	1642	DDB1	OMIM:619426
HP:0000708	Atypical behavior	1801	DPH1	ORPHA:459061
HP:0000708	Atypical behavior	291	SLC25A4	ORPHA:254892
HP:0000708	Atypical behavior	5428	POLG	ORPHA:254892
HP:0000708	Atypical behavior	56652	TWNK	ORPHA:254892
HP:0000708	Atypical behavior	81848	SPRY4	ORPHA:432
HP:0000708	Atypical behavior	60675	PROK2	ORPHA:432
HP:0000708	Atypical behavior	55636	CHD7	ORPHA:432
HP:0000708	Atypical behavior	6870	TACR3	ORPHA:432
HP:0000708	Atypical behavior	1848	DUSP6	ORPHA:432
HP:0000708	Atypical behavior	26012	NSMF	ORPHA:432
HP:0000708	Atypical behavior	55717	WDR11	ORPHA:432
HP:0000708	Atypical behavior	9394	HS6ST1	ORPHA:432
HP:0000708	Atypical behavior	2796	GNRH1	ORPHA:432
HP:0000708	Atypical behavior	2798	GNRHR	ORPHA:432
HP:0000708	Atypical behavior	84634	KISS1R	ORPHA:432
HP:0000708	Atypical behavior	6866	TAC3	ORPHA:432
HP:0000708	Atypical behavior	8822	FGF17	ORPHA:432
HP:0000708	Atypical behavior	3814	KISS1	ORPHA:432
HP:0000708	Atypical behavior	11133	KPTN	OMIM:615637
HP:0000708	Atypical behavior	11133	KPTN	ORPHA:397612
HP:0000708	Atypical behavior	2767	GNA11	ORPHA:428
HP:0000708	Atypical behavior	846	CASR	ORPHA:428
HP:0000708	Atypical behavior	23114	NFASC	OMIM:618356
HP:0000708	Atypical behavior	4952	OCRL	ORPHA:534
HP:0000708	Atypical behavior	51132	RLIM	OMIM:300978
HP:0000708	Atypical behavior	24140	FTSJ1	OMIM:309549
HP:0000708	Atypical behavior	1737	DLAT	ORPHA:79244
HP:0000708	Atypical behavior	221037	JMJD1C	ORPHA:567
HP:0000708	Atypical behavior	2812	GP1BB	ORPHA:567
HP:0000708	Atypical behavior	6239	RREB1	ORPHA:567
HP:0000708	Atypical behavior	7290	HIRA	ORPHA:567
HP:0000708	Atypical behavior	9632	SEC24C	ORPHA:567
HP:0000708	Atypical behavior	7353	UFD1	ORPHA:567
HP:0000708	Atypical behavior	421	ARVCF	ORPHA:567
HP:0000708	Atypical behavior	2717	GLA	ORPHA:324
HP:0000708	Atypical behavior	1000	CDH2	OMIM:618929
HP:0000708	Atypical behavior	1137	CHRNA4	ORPHA:98784
HP:0000708	Atypical behavior	1135	CHRNA2	ORPHA:98784
HP:0000708	Atypical behavior	57010	CABP4	ORPHA:98784
HP:0000708	Atypical behavior	1141	CHRNB2	ORPHA:98784
HP:0000708	Atypical behavior	1392	CRH	ORPHA:98784
HP:0000708	Atypical behavior	10046	MAMLD1	ORPHA:95706
HP:0000708	Atypical behavior	367	AR	ORPHA:95706
HP:0000708	Atypical behavior	57187	THOC2	ORPHA:457240
HP:0000708	Atypical behavior	57187	THOC2	OMIM:300957
HP:0000708	Atypical behavior	9757	KMT2B	ORPHA:589618
HP:0000708	Atypical behavior	4221	MEN1	ORPHA:97279
HP:0000708	Atypical behavior	2760	GM2A	ORPHA:309246
HP:0000708	Atypical behavior	23067	SETD1B	OMIM:619000
HP:0000708	Atypical behavior	5500	PPP1CB	OMIM:617506
HP:0000708	Atypical behavior	55164	SHQ1	OMIM:619922
HP:0000708	Atypical behavior	407975	MIR17HG	ORPHA:391646
HP:0000708	Atypical behavior	595	CCND1	ORPHA:892
HP:0000708	Atypical behavior	4841	NONO	ORPHA:466791
HP:0000708	Atypical behavior	10846	PDE10A	ORPHA:494541
HP:0000708	Atypical behavior	10084	PQBP1	OMIM:309500
HP:0000708	Atypical behavior	4781	NFIB	OMIM:618286
HP:0000708	Atypical behavior	51317	PHF21A	OMIM:618725
HP:0000708	Atypical behavior	203190	LGI3	OMIM:620007
HP:0000708	Atypical behavior	6532	SLC6A4	OMIM:164230
HP:0000708	Atypical behavior	11011	TLK2	OMIM:618050
HP:0000708	Atypical behavior	2182	ACSL4	OMIM:300387
HP:0000708	Atypical behavior	9699	RIMS2	OMIM:618970
HP:0000708	Atypical behavior	3480	IGF1R	OMIM:270450
HP:0000708	Atypical behavior	3155	HMGCL	ORPHA:20
HP:0000708	Atypical behavior	3155	HMGCL	OMIM:246450
HP:0000708	Atypical behavior	10102	TSFM	OMIM:610505
HP:0000708	Atypical behavior	3073	HEXA	OMIM:272800
HP:0000708	Atypical behavior	1356	CP	ORPHA:48818
HP:0000708	Atypical behavior	38	ACAT1	ORPHA:134
HP:0000708	Atypical behavior	654	BMP6	ORPHA:465508
HP:0000708	Atypical behavior	54834	GDAP2	OMIM:618369
HP:0000708	Atypical behavior	54820	NDE1	OMIM:605013
HP:0000708	Atypical behavior	113246	C12orf57	OMIM:218340
HP:0000708	Atypical behavior	8218	CLTCL1	ORPHA:453510
HP:0000708	Atypical behavior	55181	SMG8	OMIM:619268
HP:0000708	Atypical behavior	79583	TMEM231	OMIM:614970
HP:0000708	Atypical behavior	388662	SLC6A17	ORPHA:457212
HP:0000708	Atypical behavior	388662	SLC6A17	OMIM:616269
HP:0000708	Atypical behavior	94005	PIGS	OMIM:618143
HP:0000708	Atypical behavior	1436	CSF1R	OMIM:618476
HP:0000708	Atypical behavior	2737	GLI3	ORPHA:672
HP:0000708	Atypical behavior	55703	POLR3B	OMIM:614381
HP:0000708	Atypical behavior	55703	POLR3B	OMIM:619742
HP:0000708	Atypical behavior	51256	TBC1D7	OMIM:248000
HP:0000708	Atypical behavior	84334	COA8	ORPHA:436271
HP:0000708	Atypical behavior	84334	COA8	OMIM:619061
HP:0000708	Atypical behavior	81570	CLPB	OMIM:619835
HP:0000708	Atypical behavior	5457	POU4F1	ORPHA:314647
HP:0000708	Atypical behavior	10159	ATP6AP2	ORPHA:93952
HP:0000708	Atypical behavior	10159	ATP6AP2	OMIM:300423
HP:0000708	Atypical behavior	24137	KIF4A	OMIM:300923
HP:0000708	Atypical behavior	4487	MSX1	ORPHA:199306
HP:0000708	Atypical behavior	5818	NECTIN1	ORPHA:199306
HP:0000708	Atypical behavior	1739	DLG1	ORPHA:199306
HP:0000708	Atypical behavior	652	BMP4	ORPHA:199306
HP:0000708	Atypical behavior	999	CDH1	ORPHA:199306
HP:0000708	Atypical behavior	5156	PDGFRA	ORPHA:199306
HP:0000708	Atypical behavior	3664	IRF6	ORPHA:199306
HP:0000708	Atypical behavior	9411	ARHGAP29	ORPHA:199306
HP:0000708	Atypical behavior	1748	DLX4	ORPHA:199306
HP:0000708	Atypical behavior	55690	PACS1	OMIM:615009
HP:0000708	Atypical behavior	55690	PACS1	ORPHA:329224
HP:0000708	Atypical behavior	318	NUDT2	OMIM:619844
HP:0000708	Atypical behavior	57082	KNL1	OMIM:604321
HP:0000708	Atypical behavior	55650	PIGV	OMIM:239300
HP:0000708	Atypical behavior	2192	FBLN1	ORPHA:404451
HP:0000708	Atypical behavior	2188	FANCF	OMIM:603467
HP:0000708	Atypical behavior	8029	CUBN	ORPHA:35858
HP:0000708	Atypical behavior	81693	AMN	ORPHA:35858
HP:0000708	Atypical behavior	818	CAMK2G	OMIM:618522
HP:0000708	Atypical behavior	64359	NXN	OMIM:618529
HP:0000708	Atypical behavior	7436	VLDLR	OMIM:224050
HP:0000708	Atypical behavior	4091	SMAD6	OMIM:617439
HP:0000708	Atypical behavior	79140	CCDC28B	OMIM:209900
HP:0000708	Atypical behavior	85465	SELENOI	OMIM:618768
HP:0000708	Atypical behavior	4330	MN1	OMIM:618774
HP:0000708	Atypical behavior	57231	SNX14	OMIM:616354
HP:0000708	Atypical behavior	57231	SNX14	ORPHA:397709
HP:0000708	Atypical behavior	23327	NEDD4L	OMIM:617201
HP:0000708	Atypical behavior	5833	PCYT2	OMIM:618770
HP:0000708	Atypical behavior	5373	PMM2	OMIM:212065
HP:0000708	Atypical behavior	5373	PMM2	ORPHA:79318
HP:0000708	Atypical behavior	26038	CHD5	OMIM:619873
HP:0000708	Atypical behavior	2911	GRM1	OMIM:617691
HP:0000708	Atypical behavior	2911	GRM1	OMIM:614831
HP:0000708	Atypical behavior	55621	TRMT1	OMIM:618302
HP:0000708	Atypical behavior	8558	CDK10	OMIM:617694
HP:0000708	Atypical behavior	51633	OTUD6B	OMIM:617452
HP:0000708	Atypical behavior	9354	UBE4A	OMIM:619639
HP:0000708	Atypical behavior	55280	CWF19L1	OMIM:616127
HP:0000708	Atypical behavior	55280	CWF19L1	ORPHA:453521
HP:0000708	Atypical behavior	92609	TIMM50	OMIM:617698
HP:0000708	Atypical behavior	79718	TBL1XR1	OMIM:602342
HP:0000708	Atypical behavior	2232	FDXR	ORPHA:543470
HP:0000708	Atypical behavior	9772	TMEM94	OMIM:618316
HP:0000708	Atypical behavior	79971	WLS	OMIM:619648
HP:0000708	Atypical behavior	9711	RUBCN	ORPHA:404499
HP:0000708	Atypical behavior	9711	RUBCN	OMIM:615705
HP:0000708	Atypical behavior	5981	RFC1	ORPHA:504476
HP:0000708	Atypical behavior	5354	PLP1	OMIM:312080
HP:0000708	Atypical behavior	5354	PLP1	ORPHA:280219
HP:0000708	Atypical behavior	7143	TNR	OMIM:619653
HP:0000708	Atypical behavior	374969	SVBP	OMIM:618569
HP:0000708	Atypical behavior	10533	ATG7	OMIM:619422
HP:0000708	Atypical behavior	1523	CUX1	OMIM:618330
HP:0000708	Atypical behavior	120	ADD3	OMIM:617008
HP:0000708	Atypical behavior	4212	MEIS2	ORPHA:261190
HP:0000708	Atypical behavior	6443	SGCB	ORPHA:119
HP:0000708	Atypical behavior	9949	AMMECR1	OMIM:300990
HP:0000708	Atypical behavior	695	BTK	OMIM:300755
HP:0000708	Atypical behavior	6134	RPL10	OMIM:300998
HP:0000708	Atypical behavior	6134	RPL10	ORPHA:459070
HP:0000708	Atypical behavior	1281	COL3A1	OMIM:618343
HP:0000708	Atypical behavior	160418	TMTC3	OMIM:617255
HP:0000708	Atypical behavior	10765	KDM5B	OMIM:618109
HP:0000708	Atypical behavior	4967	OGDH	OMIM:203740
HP:0000708	Atypical behavior	6418	SET	OMIM:618106
HP:0000708	Atypical behavior	3708	ITPR1	ORPHA:208513
HP:0000708	Atypical behavior	3708	ITPR1	OMIM:117360
HP:0000708	Atypical behavior	1120	CHKB	OMIM:602541
HP:0000708	Atypical behavior	6096	RORB	OMIM:618357
HP:0000708	Atypical behavior	55262	TRAPPC14	OMIM:618351
HP:0000708	Atypical behavior	23043	TNIK	OMIM:617028
HP:0000708	Atypical behavior	84340	GFM2	ORPHA:565624
HP:0000708	Atypical behavior	84340	GFM2	OMIM:618397
HP:0000708	Atypical behavior	8888	MCM3AP	OMIM:618124
HP:0000708	Atypical behavior	513	ATP5F1D	OMIM:618120
HP:0000708	Atypical behavior	92255	LMBRD2	OMIM:619694
HP:0000708	Atypical behavior	27341	RRP7A	OMIM:619453
HP:0000708	Atypical behavior	2019	EN1	OMIM:619218
HP:0000708	Atypical behavior	80311	KLHL15	OMIM:300982
HP:0000708	Atypical behavior	56776	FMN2	OMIM:616193
HP:0000708	Atypical behavior	84892	POMGNT2	OMIM:618135
HP:0000708	Atypical behavior	63931	MRPS14	OMIM:618378
HP:0000708	Atypical behavior	220296	HEPACAM	OMIM:613925
HP:0000708	Atypical behavior	220296	HEPACAM	OMIM:613926
HP:0000708	Atypical behavior	3028	HSD17B10	ORPHA:391428
HP:0000708	Atypical behavior	3028	HSD17B10	OMIM:300438
HP:0000708	Atypical behavior	50801	KCNK4	OMIM:618381
HP:0000708	Atypical behavior	55697	VAC14	OMIM:617054
HP:0000708	Atypical behavior	57498	KIDINS220	OMIM:617296
HP:0000708	Atypical behavior	9851	KIAA0753	OMIM:619479
HP:0000708	Atypical behavior	27107	ZBTB11	OMIM:618383
HP:0000708	Atypical behavior	4361	MRE11	ORPHA:251347
HP:0000708	Atypical behavior	4361	MRE11	OMIM:604391
HP:0000708	Atypical behavior	80036	TRPM3	OMIM:620224
HP:0000708	Atypical behavior	10283	CWC27	ORPHA:166035
HP:0000708	Atypical behavior	10283	CWC27	OMIM:250410
HP:0000708	Atypical behavior	2887	GRB10	ORPHA:96182
HP:0000708	Atypical behavior	203068	TUBB	OMIM:156610
HP:0000708	Atypical behavior	203068	TUBB	OMIM:615771
HP:0000708	Atypical behavior	5058	PAK1	OMIM:618158
HP:0000708	Atypical behavior	8239	USP9X	OMIM:300968
HP:0000708	Atypical behavior	9373	PLAA	ORPHA:521426
HP:0000708	Atypical behavior	23387	SIK3	OMIM:618162
HP:0000708	Atypical behavior	84231	TRAF7	OMIM:618164
HP:0000708	Atypical behavior	1315	COPB1	OMIM:619255
HP:0000708	Atypical behavior	81615	TMEM163	OMIM:620243
HP:0000708	Atypical behavior	51082	POLR1D	OMIM:613717
HP:0000708	Atypical behavior	2801	GOLGA2	OMIM:620240
HP:0000708	Atypical behavior	55294	FBXW7	OMIM:620012
HP:0000708	Atypical behavior	26960	NBEA	OMIM:619157
HP:0000708	Atypical behavior	10466	COG5	OMIM:613612
HP:0000708	Atypical behavior	10466	COG5	ORPHA:263487
HP:0000708	Atypical behavior	340990	OTOG	OMIM:614945
HP:0000708	Atypical behavior	5447	POR	ORPHA:95699
HP:0000708	Atypical behavior	3199	HOXA2	ORPHA:83463
HP:0000708	Atypical behavior	4010	LMX1B	ORPHA:495818
HP:0000708	Atypical behavior	6812	STXBP1	ORPHA:495818
HP:0000708	Atypical behavior	55780	ERMARD	ORPHA:75857
HP:0000708	Atypical behavior	55780	ERMARD	OMIM:615544
HP:0000708	Atypical behavior	9382	COG1	OMIM:611209
HP:0000708	Atypical behavior	8913	CACNA1G	OMIM:618087
HP:0000708	Atypical behavior	93627	TBCK	OMIM:616900
HP:0000708	Atypical behavior	93627	TBCK	ORPHA:488632
HP:0000708	Atypical behavior	80254	CEP63	OMIM:614728
HP:0000708	Atypical behavior	23325	WASHC4	OMIM:615817
HP:0000708	Atypical behavior	56984	PSMG2	OMIM:619183
HP:0000708	Atypical behavior	57531	HACE1	ORPHA:464282
HP:0000708	Atypical behavior	84823	LMNB2	OMIM:619180
HP:0000708	Atypical behavior	23036	ZNF292	OMIM:619188
HP:0000708	Atypical behavior	23545	ATP6V0A2	OMIM:278250
HP:0000708	Atypical behavior	23545	ATP6V0A2	ORPHA:2834
HP:0000708	Atypical behavior	23545	ATP6V0A2	ORPHA:357074
HP:0000708	Atypical behavior	54872	PIGG	OMIM:616917
HP:0000708	Atypical behavior	54872	PIGG	ORPHA:488635
HP:0000708	Atypical behavior	3192	HNRNPU	ORPHA:238769
HP:0000708	Atypical behavior	9653	HS2ST1	OMIM:619194
HP:0000708	Atypical behavior	10841	FTCD	ORPHA:51208
HP:0000708	Atypical behavior	3211	HOXB1	OMIM:614744
HP:0000708	Atypical behavior	477	ATP1A2	ORPHA:2131
HP:0000708	Atypical behavior	477	ATP1A2	ORPHA:442835
HP:0000708	Atypical behavior	84720	PIGO	OMIM:614749
HP:0000708	Atypical behavior	8085	KMT2D	OMIM:620186
HP:0000708	Atypical behavior	283209	PGM2L1	OMIM:620191
HP:0000708	Atypical behavior	79228	THOC6	ORPHA:363444
HP:0000708	Atypical behavior	2316	FLNA	OMIM:300321
HP:0000708	Atypical behavior	23522	KAT6B	ORPHA:85201
HP:0000708	Atypical behavior	182	JAG1	OMIM:118450
HP:0000708	Atypical behavior	34	ACADM	ORPHA:42
HP:0000708	Atypical behavior	55149	MTPAP	OMIM:613672
HP:0000708	Atypical behavior	2146	EZH2	OMIM:277590
HP:0000708	Atypical behavior	81887	LAS1L	OMIM:309585
HP:0000708	Atypical behavior	57465	TBC1D24	ORPHA:352582
HP:0000708	Atypical behavior	226	ALDOA	ORPHA:57
HP:0000708	Atypical behavior	5832	ALDH18A1	ORPHA:447760
HP:0000708	Atypical behavior	124997	WDR81	OMIM:610185
HP:0000708	Atypical behavior	8733	GPAA1	OMIM:617810
HP:0000708	Atypical behavior	8733	GPAA1	ORPHA:529665
HP:0000708	Atypical behavior	89891	DYNC2I2	OMIM:615633
HP:0000708	Atypical behavior	132	ADK	OMIM:614300
HP:0000708	Atypical behavior	6334	SCN8A	OMIM:614306
HP:0000708	Atypical behavior	6334	SCN8A	ORPHA:442835
HP:0000708	Atypical behavior	23028	KDM1A	OMIM:616728
HP:0000708	Atypical behavior	23028	KDM1A	ORPHA:477993
HP:0000708	Atypical behavior	3981	LIG4	OMIM:606593
HP:0000708	Atypical behavior	4893	NRAS	OMIM:613224
HP:0000708	Atypical behavior	10982	MAPRE2	OMIM:616734
HP:0000708	Atypical behavior	3176	HNMT	OMIM:616739
HP:0000708	Atypical behavior	4131	MAP1B	OMIM:618918
HP:0000708	Atypical behavior	84679	SLC9A7	OMIM:301024
HP:0000708	Atypical behavior	90161	HS6ST2	OMIM:301025
HP:0000708	Atypical behavior	4694	NDUFA1	OMIM:301020
HP:0000708	Atypical behavior	55906	ZC4H2	OMIM:314580
HP:0000708	Atypical behavior	116150	NUS1	OMIM:617831
HP:0000708	Atypical behavior	116150	NUS1	ORPHA:442835
HP:0000708	Atypical behavior	91137	SLC25A46	OMIM:616505
HP:0000708	Atypical behavior	6678	SPARC	OMIM:616507
HP:0000708	Atypical behavior	10943	MSL3	OMIM:301032
HP:0000708	Atypical behavior	4041	LRP5	ORPHA:2788
HP:0000708	Atypical behavior	56479	KCNQ5	OMIM:617601
HP:0000708	Atypical behavior	9343	EFTUD2	ORPHA:79113
HP:0000708	Atypical behavior	9343	EFTUD2	OMIM:610536
HP:0000708	Atypical behavior	8270	LAGE3	OMIM:301006
HP:0000708	Atypical behavior	79853	TM4SF20	OMIM:615432
HP:0000708	Atypical behavior	117581	TWIST2	OMIM:209885
HP:0000708	Atypical behavior	117581	TWIST2	OMIM:200110
HP:0000708	Atypical behavior	117581	TWIST2	ORPHA:920
HP:0000708	Atypical behavior	23040	MYT1L	OMIM:616521
HP:0000708	Atypical behavior	8936	WASF1	OMIM:618707
HP:0000708	Atypical behavior	26503	SLC17A5	OMIM:604369
HP:0000708	Atypical behavior	80210	ARMC9	OMIM:617622
HP:0000708	Atypical behavior	81562	LMAN2L	OMIM:617863
HP:0000708	Atypical behavior	139285	AMER1	OMIM:300373
HP:0000708	Atypical behavior	259266	ASPM	OMIM:608716
HP:0000708	Atypical behavior	54888	NSUN2	OMIM:611091
HP:0000708	Atypical behavior	54802	TRIT1	OMIM:617873
HP:0000708	Atypical behavior	7518	XRCC4	OMIM:616541
HP:0000708	Atypical behavior	10274	STAG1	OMIM:617635
HP:0000708	Atypical behavior	2806	GOT2	OMIM:618721
HP:0000708	Atypical behavior	3778	KCNMA1	OMIM:618729
HP:0000708	Atypical behavior	3778	KCNMA1	OMIM:617643
HP:0000708	Atypical behavior	1968	EIF2S3	OMIM:300148
HP:0000708	Atypical behavior	672	BRCA1	OMIM:617883
HP:0000708	Atypical behavior	5087	PBX1	OMIM:617641
HP:0000708	Atypical behavior	523	ATP6V1A	OMIM:617403
HP:0000708	Atypical behavior	523	ATP6V1A	ORPHA:442835
HP:0000708	Atypical behavior	523	ATP6V1A	ORPHA:357074
HP:0000708	Atypical behavior	84148	KAT8	OMIM:618974
HP:0000708	Atypical behavior	27034	ACAD8	ORPHA:79159
HP:0000708	Atypical behavior	2218	FKTN	ORPHA:272
HP:0000708	Atypical behavior	91452	ACBD5	OMIM:618863
HP:0000708	Atypical behavior	9524	TECR	OMIM:614020
HP:0000708	Atypical behavior	23446	SLC44A1	OMIM:618868
HP:0000708	Atypical behavior	6873	TAF2	OMIM:615599
HP:0000708	Atypical behavior	2895	GRID2	OMIM:616204
HP:0000708	Atypical behavior	10054	UBA2	OMIM:619959
HP:0000708	Atypical behavior	2972	BRF1	OMIM:616202
HP:0000708	Atypical behavior	3703	STT3A	OMIM:619714
HP:0000708	Atypical behavior	7552	ZNF711	OMIM:300803
HP:0000708	Atypical behavior	1630	DCC	OMIM:617542
HP:0000708	Atypical behavior	472	ATM	OMIM:208900
HP:0000708	Atypical behavior	10501	SEMA6B	OMIM:618876
HP:0000708	Atypical behavior	8309	ACOX2	OMIM:617308
HP:0000708	Atypical behavior	57156	TMEM63C	OMIM:619966
HP:0000708	Atypical behavior	28960	DCPS	OMIM:616459
HP:0000708	Atypical behavior	5189	PEX1	OMIM:214100
HP:0000708	Atypical behavior	5189	PEX1	OMIM:601539
HP:0000708	Atypical behavior	137492	VPS37A	ORPHA:319199
HP:0000708	Atypical behavior	137492	VPS37A	OMIM:614898
HP:0000708	Atypical behavior	129685	TAF8	OMIM:619972
HP:0000708	Atypical behavior	2590	GALNT2	OMIM:618885
HP:0000708	Atypical behavior	23184	MESD	OMIM:618644
HP:0000708	Atypical behavior	51319	RSRC1	OMIM:618402
HP:0000708	Atypical behavior	8560	DEGS1	OMIM:618404
HP:0000708	Atypical behavior	8726	EED	OMIM:617561
HP:0000708	Atypical behavior	10715	CERS1	OMIM:616230
HP:0000708	Atypical behavior	2744	GLS	OMIM:618412
HP:0000708	Atypical behavior	5442	POLRMT	OMIM:619743
HP:0000708	Atypical behavior	6712	SPTBN2	OMIM:615386
HP:0000708	Atypical behavior	6712	SPTBN2	ORPHA:352403
HP:0000708	Atypical behavior	55714	TENM3	OMIM:615145
HP:0000708	Atypical behavior	83636	C19orf12	OMIM:614298
HP:0000708	Atypical behavior	57178	ZMIZ1	OMIM:618659
HP:0000708	Atypical behavior	26057	ANKRD17	OMIM:619504
HP:0000708	Atypical behavior	3737	KCNA2	ORPHA:442835
HP:0000708	Atypical behavior	10991	SLC38A3	ORPHA:442835
HP:0000708	Atypical behavior	22906	TRAK1	ORPHA:442835
HP:0000708	Atypical behavior	2561	GABRB2	ORPHA:442835
HP:0000708	Atypical behavior	6328	SCN3A	ORPHA:442835
HP:0000708	Atypical behavior	6328	SCN3A	OMIM:617935
HP:0000708	Atypical behavior	2558	GABRA5	ORPHA:442835
HP:0000708	Atypical behavior	781	CACNA2D1	ORPHA:442835
HP:0000708	Atypical behavior	2906	GRIN2D	ORPHA:442835
HP:0000708	Atypical behavior	51741	WWOX	ORPHA:442835
HP:0000708	Atypical behavior	51741	WWOX	ORPHA:284282
HP:0000708	Atypical behavior	23334	SZT2	ORPHA:442835
HP:0000708	Atypical behavior	51412	ACTL6B	ORPHA:442835
HP:0000708	Atypical behavior	2258	FGF13	ORPHA:442835
HP:0000708	Atypical behavior	284111	SLC13A5	ORPHA:442835
HP:0000708	Atypical behavior	25977	NECAP1	ORPHA:442835
HP:0000708	Atypical behavior	2555	GABRA2	ORPHA:442835
HP:0000708	Atypical behavior	55152	DALRD3	ORPHA:442835
HP:0000708	Atypical behavior	26999	CYFIP2	ORPHA:442835
HP:0000708	Atypical behavior	25973	PARS2	ORPHA:442835
HP:0000708	Atypical behavior	2257	FGF12	ORPHA:442835
HP:0000708	Atypical behavior	5530	PPP3CA	ORPHA:442835
HP:0000708	Atypical behavior	55623	THUMPD1	OMIM:619989
HP:0000708	Atypical behavior	284439	SLC25A42	OMIM:618416
HP:0000708	Atypical behavior	56006	SMG9	OMIM:619995
HP:0000708	Atypical behavior	29081	METTL5	OMIM:618665
HP:0000708	Atypical behavior	7862	BRPF1	OMIM:617333
HP:0000708	Atypical behavior	8363	H4C11	OMIM:619759
HP:0000708	Atypical behavior	7701	ZNF142	OMIM:618425
HP:0000708	Atypical behavior	8314	BAP1	OMIM:619762
HP:0000708	Atypical behavior	10021	HCN4	OMIM:619521
HP:0000708	Atypical behavior	2720	GLB1	OMIM:230650
HP:0000708	Atypical behavior	51341	ZBTB7A	OMIM:619769
HP:0000708	Atypical behavior	85365	ALG2	OMIM:607906
HP:0000708	Atypical behavior	10463	SLC30A9	OMIM:617595
HP:0000708	Atypical behavior	80173	IFT74	OMIM:617119
HP:0000708	Atypical behavior	79087	ALG12	ORPHA:79324
HP:0000708	Atypical behavior	25981	DNAH1	ORPHA:244
HP:0000708	Atypical behavior	115948	ODAD3	ORPHA:244
HP:0000708	Atypical behavior	54768	HYDIN	ORPHA:244
HP:0000708	Atypical behavior	352909	DNAAF3	ORPHA:244
HP:0000708	Atypical behavior	27148	STK36	ORPHA:244
HP:0000708	Atypical behavior	51314	NME8	ORPHA:244
HP:0000708	Atypical behavior	92749	DRC1	ORPHA:244
HP:0000708	Atypical behavior	54970	TTC12	ORPHA:244
HP:0000708	Atypical behavior	152110	NEK10	ORPHA:244
HP:0000708	Atypical behavior	2302	FOXJ1	ORPHA:244
HP:0000708	Atypical behavior	221421	RSPH9	ORPHA:244
HP:0000708	Atypical behavior	85478	CCDC65	ORPHA:244
HP:0000708	Atypical behavior	55036	CCDC40	ORPHA:244
HP:0000708	Atypical behavior	51364	ZMYND10	ORPHA:244
HP:0000708	Atypical behavior	64446	DNAI2	ORPHA:244
HP:0000708	Atypical behavior	6674	SPAG1	ORPHA:244
HP:0000708	Atypical behavior	83544	DNAL1	ORPHA:244
HP:0000708	Atypical behavior	89765	RSPH1	ORPHA:244
HP:0000708	Atypical behavior	83538	ODAD4	ORPHA:244
HP:0000708	Atypical behavior	200373	CFAP221	ORPHA:244
HP:0000708	Atypical behavior	374407	DNAJB13	ORPHA:244
HP:0000708	Atypical behavior	55172	DNAAF2	ORPHA:244
HP:0000708	Atypical behavior	161582	DNAAF4	ORPHA:244
HP:0000708	Atypical behavior	2622	GAS8	ORPHA:244
HP:0000708	Atypical behavior	23639	DNAAF11	ORPHA:244
HP:0000708	Atypical behavior	27019	DNAI1	ORPHA:244
HP:0000708	Atypical behavior	345895	RSPH4A	ORPHA:244
HP:0000708	Atypical behavior	54919	DNAAF5	ORPHA:244
HP:0000708	Atypical behavior	388389	CCDC103	ORPHA:244
HP:0000708	Atypical behavior	93233	ODAD1	ORPHA:244
HP:0000708	Atypical behavior	55130	ODAD2	ORPHA:244
HP:0000708	Atypical behavior	1767	DNAH5	ORPHA:244
HP:0000708	Atypical behavior	83861	RSPH3	ORPHA:244
HP:0000708	Atypical behavior	345643	MCIDAS	ORPHA:244
HP:0000708	Atypical behavior	56683	CFAP298	ORPHA:244
HP:0000708	Atypical behavior	79925	SPEF2	ORPHA:244
HP:0000708	Atypical behavior	10309	CCNO	ORPHA:244
HP:0000708	Atypical behavior	115399	LRRC56	ORPHA:244
HP:0000708	Atypical behavior	139212	DNAAF6	ORPHA:244
HP:0000708	Atypical behavior	123872	DNAAF1	ORPHA:244
HP:0000708	Atypical behavior	85016	CFAP300	ORPHA:244
HP:0000708	Atypical behavior	339829	CCDC39	ORPHA:244
HP:0000708	Atypical behavior	8701	DNAH11	ORPHA:244
HP:0000708	Atypical behavior	1770	DNAH9	ORPHA:244
HP:0000708	Atypical behavior	246176	GAS2L2	ORPHA:244
HP:0000708	Atypical behavior	10262	SF3B4	ORPHA:245
HP:0000708	Atypical behavior	10262	SF3B4	OMIM:154400
HP:0000708	Atypical behavior	26100	WIPI2	OMIM:618453
HP:0000708	Atypical behavior	54903	MKS1	OMIM:617121
HP:0000708	Atypical behavior	8621	CDK13	OMIM:617360
HP:0000708	Atypical behavior	5587	PRKD1	OMIM:617364
HP:0000708	Atypical behavior	55217	TMLHE	OMIM:300872
HP:0000708	Atypical behavior	5898	RALA	OMIM:619311
HP:0000708	Atypical behavior	30000	TNPO2	OMIM:619556
HP:0000708	Atypical behavior	6477	SIAH1	OMIM:619314
HP:0000708	Atypical behavior	57102	C12orf4	OMIM:618221
HP:0000708	Atypical behavior	51728	POLR3K	OMIM:619310
HP:0000708	Atypical behavior	55628	ZNF407	OMIM:619557
HP:0000708	Atypical behavior	56521	DNAJC12	OMIM:617384
HP:0000708	Atypical behavior	3714	JAG2	OMIM:619566
HP:0000708	Atypical behavior	23030	KDM4B	OMIM:619320
HP:0000708	Atypical behavior	5010	CLDN11	OMIM:619328
HP:0000708	Atypical behavior	1741	DLG3	OMIM:300850
HP:0000708	Atypical behavior	25929	GEMIN5	OMIM:619333
HP:0000708	Atypical behavior	79641	ROGDI	OMIM:226750
HP:0000708	Atypical behavior	84188	FAR1	OMIM:619338
HP:0000708	Atypical behavior	9969	MED13	OMIM:618009
HP:0000708	Atypical behavior	92344	GORAB	OMIM:231070
HP:0000708	Atypical behavior	23203	PMPCA	OMIM:213200
HP:0000708	Atypical behavior	23203	PMPCA	ORPHA:1170
HP:0000708	Atypical behavior	1781	DYNC1I2	OMIM:618492
HP:0000708	Atypical behavior	7319	UBE2A	OMIM:300860
HP:0000708	Atypical behavior	9496	TBX4	ORPHA:261279
HP:0000708	Atypical behavior	8091	HMGA2	ORPHA:94063
HP:0000708	Atypical behavior	8091	HMGA2	ORPHA:397590
HP:0000708	Atypical behavior	23592	LEMD3	ORPHA:94063
HP:0000708	Atypical behavior	22808	MRAS	OMIM:618499
HP:0000708	Atypical behavior	8635	RNASET2	OMIM:612951
HP:0000708	Atypical behavior	23594	ORC6	OMIM:613803
HP:0000708	Atypical behavior	1756	DMD	ORPHA:98896
HP:0000708	Atypical behavior	8425	LTBP4	ORPHA:98896
HP:0000708	Atypical behavior	2628	GATM	OMIM:612718
HP:0000708	Atypical behavior	6611	SMS	ORPHA:3063
HP:0000708	Atypical behavior	7068	THRB	OMIM:188570
HP:0000708	Atypical behavior	35	ACADS	OMIM:201470
HP:0000708	Atypical behavior	35	ACADS	ORPHA:26792
HP:0000708	Atypical behavior	55526	DHTKD1	OMIM:204750
HP:0000708	Atypical behavior	3839	KPNA3	OMIM:620106
HP:0000708	Atypical behavior	79005	SCNM1	OMIM:620107
HP:0000708	Atypical behavior	1605	DAG1	OMIM:613818
HP:0000708	Atypical behavior	2077	ERF	OMIM:617180
HP:0000708	Atypical behavior	2077	ERF	OMIM:600775
HP:0000708	Atypical behavior	29123	ANKRD11	ORPHA:261250
HP:0000708	Atypical behavior	6197	RPS6KA3	OMIM:300844
HP:0000708	Atypical behavior	1200	TPP1	OMIM:204500
HP:0000708	Atypical behavior	55252	ASXL2	OMIM:617190
HP:0000708	Atypical behavior	23636	NUP62	ORPHA:225154
HP:0000708	Atypical behavior	3739	KCNA4	OMIM:618284
HP:0000708	Atypical behavior	23154	NCDN	OMIM:619373
HP:0000708	Atypical behavior	55074	OXR1	OMIM:213000
HP:0000708	Atypical behavior	27161	AGO2	OMIM:619149
HP:0000708	Atypical behavior	221927	BRAT1	OMIM:618056
HP:0000708	Atypical behavior	64858	DCLRE1B	OMIM:620133
HP:0000708	Atypical behavior	9325	TRIP4	ORPHA:486815
HP:0000708	Atypical behavior	11113	CIT	OMIM:617090
HP:0000708	Atypical behavior	4702	NDUFA8	OMIM:619272
HP:0000708	Atypical behavior	10128	LRPPRC	OMIM:220111
HP:0000708	Atypical behavior	375	ARF1	OMIM:618185
HP:0000708	Atypical behavior	55503	TRPV6	OMIM:618188
HP:0000708	Atypical behavior	775	CACNA1C	OMIM:620029
HP:0000708	Atypical behavior	7109	TRAPPC10	OMIM:620027
HP:0000708	Atypical behavior	9442	MED27	OMIM:619286
HP:0000708	Atypical behavior	4649	MYO9A	OMIM:618198
HP:0000708	Atypical behavior	25782	RAB3GAP2	OMIM:212720
HP:0000708	Atypical behavior	7102	TSPAN7	OMIM:300210
HP:0000708	Atypical behavior	116228	COX20	OMIM:619054
HP:0000708	Atypical behavior	26277	TINF2	OMIM:613990
HP:0000708	Atypical behavior	4697	NDUFA4	OMIM:619065
HP:0000708	Atypical behavior	10382	TUBB4A	OMIM:612438
HP:0000708	Atypical behavior	5230	PGK1	ORPHA:713
HP:0000708	Atypical behavior	5230	PGK1	OMIM:300653
HP:0000708	Atypical behavior	2615	LRRC32	OMIM:619074
HP:0000708	Atypical behavior	4953	ODC1	OMIM:619075
HP:0000708	Atypical behavior	9289	ADGRG1	ORPHA:98889
HP:0000708	Atypical behavior	5297	PI4KA	ORPHA:98889
HP:0000708	Atypical behavior	5297	PI4KA	OMIM:619708
HP:0000708	Atypical behavior	6558	SLC12A2	OMIM:619083
HP:0000708	Atypical behavior	3481	IGF2	ORPHA:397590
HP:0000708	Atypical behavior	1028	CDKN1C	ORPHA:397590
HP:0000708	Atypical behavior	5324	PLAG1	ORPHA:397590
HP:0000708	Atypical behavior	284217	LAMA1	OMIM:615960
HP:0000708	Atypical behavior	284217	LAMA1	ORPHA:370022
HP:0000708	Atypical behavior	286262	TPRN	OMIM:613307
HP:0000708	Atypical behavior	51244	CCDC174	OMIM:616816
HP:0000708	Atypical behavior	23065	EMC1	ORPHA:480898
HP:0000708	Atypical behavior	23065	EMC1	OMIM:616875
HP:0000708	Atypical behavior	22880	MORC2	OMIM:619090
HP:0000708	Atypical behavior	5295	PIK3R1	OMIM:269880
HP:0000708	Atypical behavior	254065	BRWD3	OMIM:300659
HP:0000708	Atypical behavior	9147	NEMF	OMIM:619099
HP:0000708	Atypical behavior	1384	CRAT	OMIM:617917
HP:0000708	Atypical behavior	85021	REPS1	OMIM:617916
HP:0000708	Atypical behavior	197322	ACSF3	ORPHA:289504
HP:0000708	Atypical behavior	9775	EIF4A3	OMIM:268305
HP:0000708	Atypical behavior	93183	PIGM	OMIM:610293
HP:0000708	Atypical behavior	3897	L1CAM	ORPHA:2466
HP:0000708	Atypical behavior	51053	GMNN	OMIM:616835
HP:0000708	Atypical behavior	27241	BBS9	OMIM:615986
HP:0000708	Atypical behavior	2719	GPC3	OMIM:312870
HP:0000708	Atypical behavior	2239	GPC4	OMIM:312870
HP:0000708	Atypical behavior	27152	INTU	OMIM:617926
HP:0000708	Atypical behavior	274	BIN1	ORPHA:169186
HP:0000708	Atypical behavior	10290	SPEG	ORPHA:169186
HP:0000708	Atypical behavior	6261	RYR1	ORPHA:169186
HP:0000708	Atypical behavior	7273	TTN	ORPHA:169186
HP:0000708	Atypical behavior	9158	FIBP	ORPHA:500095
HP:0000708	Atypical behavior	9698	PUM1	OMIM:617931
HP:0000708	Atypical behavior	29926	GMPPA	OMIM:615510
HP:0000708	Atypical behavior	658	BMPR1B	OMIM:616849
HP:0000708	Atypical behavior	57511	COG6	ORPHA:363523
HP:0000708	Atypical behavior	57511	COG6	OMIM:615328
HP:0000708	Atypical behavior	55784	MCTP2	ORPHA:1596
HP:0000708	Atypical behavior	5831	PYCR1	OMIM:614438
HP:0000708	Atypical behavior	10484	SEC23A	ORPHA:50814
HP:0000708	Atypical behavior	55603	TENT5A	OMIM:617952
HP:0000708	Atypical behavior	26007	TKFC	OMIM:618805
HP:0000708	Atypical behavior	27315	PGAP2	OMIM:614207
HP:0000708	Atypical behavior	64131	XYLT1	OMIM:615777
HP:0000708	Atypical behavior	5257	PHKB	ORPHA:79240
HP:0000708	Atypical behavior	128989	TANGO2	ORPHA:480864
HP:0000708	Atypical behavior	27010	TPK1	OMIM:614458
HP:0000708	Atypical behavior	55644	OSGEP	OMIM:617729
HP:0000708	Atypical behavior	57572	DOCK6	OMIM:614219
HP:0000708	Atypical behavior	54658	UGT1A1	ORPHA:79234
HP:0000708	Atypical behavior	7074	TIAM1	OMIM:619908
HP:0000708	Atypical behavior	2464	FRA16E	OMIM:136570
HP:0000708	Atypical behavior	112858	TP53RK	OMIM:617730
HP:0000708	Atypical behavior	1778	DYNC1H1	OMIM:614228
HP:0000708	Atypical behavior	8405	SPOP	OMIM:618828
HP:0000708	Atypical behavior	8405	SPOP	OMIM:618829
HP:0000708	Atypical behavior	10585	POMT1	ORPHA:86812
HP:0000708	Atypical behavior	54870	QRICH1	OMIM:617982
HP:0000708	Atypical behavior	4780	NFE2L2	OMIM:617744
HP:0000708	Atypical behavior	54805	CNNM2	OMIM:616418
HP:0000708	Atypical behavior	7291	TWIST1	OMIM:617746
HP:0000708	Atypical behavior	126792	B3GALT6	ORPHA:536467
HP:0000708	Atypical behavior	529	ATP6V1E1	ORPHA:357074
HP:0000708	Atypical behavior	51780	KDM3B	OMIM:618846
HP:0000708	Atypical behavior	8575	PRKRA	OMIM:612067
HP:0000708	Atypical behavior	119559	SFXN4	OMIM:615578
HP:0000708	Atypical behavior	4848	CNOT2	OMIM:618608
HP:0000708	Atypical behavior	1807	DPYS	OMIM:222748
HP:0000708	Atypical behavior	2639	GCDH	OMIM:231670
HP:0000708	Atypical behavior	23133	PHF8	OMIM:300263
HP:0000708	Atypical behavior	84706	GPT2	ORPHA:477673
HP:0000708	Atypical behavior	23404	EXOSC2	OMIM:617763
HP:0000708	Atypical behavior	8738	CRADD	OMIM:614499
HP:0000708	Atypical behavior	9181	ARHGEF2	OMIM:617523
HP:0000708	Atypical behavior	547	KIF1A	OMIM:614255
HP:0000708	Atypical behavior	58499	ZNF462	OMIM:618619
HP:0000708	Atypical behavior	2582	GALE	OMIM:230350
HP:0000708	Atypical behavior	5621	PRNP	ORPHA:282166
HP:0000708	Atypical behavior	5621	PRNP	OMIM:137440
HP:0000708	Atypical behavior	5621	PRNP	OMIM:123400
HP:0000708	Atypical behavior	5621	PRNP	OMIM:603218
HP:0000708	Atypical behavior	5621	PRNP	OMIM:606688
HP:0000708	Atypical behavior	4558	MT-TF	ORPHA:550
HP:0000708	Atypical behavior	4572	MT-TQ	ORPHA:550
HP:0000708	Atypical behavior	4512	MT-CO1	ORPHA:550
HP:0000708	Atypical behavior	4513	MT-CO2	ORPHA:550
HP:0000708	Atypical behavior	4514	MT-CO3	ORPHA:550
HP:0000708	Atypical behavior	4578	MT-TW	ORPHA:550
HP:0000708	Atypical behavior	4540	MT-ND5	ORPHA:550
HP:0000708	Atypical behavior	4541	MT-ND6	ORPHA:550
HP:0000708	Atypical behavior	4535	MT-ND1	ORPHA:550
HP:0000708	Atypical behavior	4538	MT-ND4	ORPHA:550
HP:0000708	Atypical behavior	4567	MT-TL1	ORPHA:550
HP:0000708	Atypical behavior	4574	MT-TS1	ORPHA:550
HP:0000708	Atypical behavior	4575	MT-TS2	ORPHA:550
HP:0000708	Atypical behavior	4564	MT-TH	ORPHA:550
HP:0000708	Atypical behavior	348	APOE	OMIM:607822
HP:0000708	Atypical behavior	7072	TIA1	OMIM:619133
HP:0000708	Atypical behavior	25974	MMACHC	ORPHA:79282
HP:0000708	Atypical behavior	4001	LMNB1	OMIM:169500
HP:0000708	Atypical behavior	3119	HLA-DQB1	OMIM:123400
HP:0000708	Atypical behavior	1967	EIF2B1	OMIM:603896
HP:0000708	Atypical behavior	1678	TIMM8A	ORPHA:52368
HP:0000708	Atypical behavior	1639	DCTN1	ORPHA:178509
HP:0000708	Atypical behavior	54476	RNF216	ORPHA:1173
HP:0000708	Atypical behavior	10908	PNPLA6	ORPHA:1173
HP:0000708	Atypical behavior	16	AARS1	OMIM:619661
HP:0000708	Atypical behavior	29110	TBK1	OMIM:616439
HP:0000708	Atypical behavior	2747	GLUD2	OMIM:168600
HP:0000708	Atypical behavior	126	ADH1C	OMIM:168600
HP:0000708	Atypical behavior	2629	GBA1	OMIM:168600
HP:0000708	Atypical behavior	4929	NR4A2	OMIM:168600
HP:0000708	Atypical behavior	4576	MT-TT	OMIM:168600
HP:0000708	Atypical behavior	9627	SNCAIP	OMIM:168600
HP:0000708	Atypical behavior	6311	ATXN2	OMIM:168600
HP:0000708	Atypical behavior	6315	ATXN8OS	OMIM:168600
HP:0000708	Atypical behavior	540	ATP7B	OMIM:277900
HP:0000708	Atypical behavior	57338	JPH3	ORPHA:98934
HP:0000708	Atypical behavior	4854	NOTCH3	OMIM:125310
HP:0000708	Atypical behavior	10682	EBP	ORPHA:401973
HP:0000708	Atypical behavior	10682	EBP	OMIM:300960
HP:0000708	Atypical behavior	199857	ALG14	OMIM:619031
HP:0000708	Atypical behavior	8450	CUL4B	OMIM:300354
HP:0000708	Atypical behavior	8450	CUL4B	ORPHA:85293
HP:0000708	Atypical behavior	158	ADSL	OMIM:103050
HP:0000708	Atypical behavior	8036	SHOC2	OMIM:607721
HP:0000708	Atypical behavior	340533	NEXMIF	OMIM:300912
HP:0000708	Atypical behavior	340533	NEXMIF	ORPHA:1942
HP:0000708	Atypical behavior	9853	RUSC2	OMIM:617773
HP:0000708	Atypical behavior	23135	KDM6B	OMIM:618505
HP:0000708	Atypical behavior	26040	SETBP1	ORPHA:436151
HP:0000708	Atypical behavior	26040	SETBP1	OMIM:616078
HP:0000708	Atypical behavior	7253	TSHR	ORPHA:99819
HP:0000708	Atypical behavior	7253	TSHR	ORPHA:424
HP:0000708	Atypical behavior	7253	TSHR	OMIM:609152
HP:0000708	Atypical behavior	55777	MBD5	ORPHA:228402
HP:0000708	Atypical behavior	1119	CHKA	OMIM:620023
HP:0000708	Atypical behavior	51343	FZR1	OMIM:620145
HP:0000708	Atypical behavior	23126	POGZ	ORPHA:468678
HP:0000708	Atypical behavior	23126	POGZ	OMIM:616364
HP:0000708	Atypical behavior	10093	ARPC4	OMIM:620141
HP:0000708	Atypical behavior	2731	GLDC	OMIM:605899
HP:0000708	Atypical behavior	275	AMT	OMIM:605899
HP:0000708	Atypical behavior	4784	NFIX	ORPHA:447980
HP:0000708	Atypical behavior	2593	GAMT	ORPHA:382
HP:0000708	Atypical behavior	4983	OPHN1	OMIM:300486
HP:0000708	Atypical behavior	6535	SLC6A8	ORPHA:52503
HP:0000708	Atypical behavior	3020	H3-3A	OMIM:619720
HP:0000708	Atypical behavior	10730	YME1L1	OMIM:617302
HP:0000708	Atypical behavior	56623	INPP5E	ORPHA:75858
HP:0000708	Atypical behavior	56623	INPP5E	OMIM:213300
HP:0000708	Atypical behavior	26580	BSCL2	OMIM:615924
HP:0000708	Atypical behavior	26580	BSCL2	ORPHA:363400
HP:0000708	Atypical behavior	284403	WDR62	OMIM:604317
HP:0000708	Atypical behavior	56992	KIF15	ORPHA:261323
HP:0000708	Atypical behavior	83696	TRAPPC9	OMIM:613192
HP:0000708	Atypical behavior	288	ANK3	OMIM:615493
HP:0000708	Atypical behavior	288	ANK3	ORPHA:356996
HP:0000708	Atypical behavior	3064	HTT	ORPHA:248111
HP:0000708	Atypical behavior	10134	BCAP31	ORPHA:369939
HP:0000708	Atypical behavior	55870	ASH1L	OMIM:617796
HP:0000708	Atypical behavior	215	ABCD1	ORPHA:139396
HP:0000708	Atypical behavior	80204	FBXO11	OMIM:618089
HP:0000708	Atypical behavior	535	ATP6V0A1	OMIM:619970
HP:0000708	Atypical behavior	340024	SLC6A19	OMIM:234500
HP:0000708	Atypical behavior	3034	HAL	ORPHA:2157
HP:0000708	Atypical behavior	1183	CLCN4	ORPHA:485350
HP:0000708	Atypical behavior	10015	PDCD6IP	OMIM:620047
HP:0000708	Atypical behavior	8289	ARID1A	OMIM:614607
HP:0000708	Atypical behavior	8289	ARID1A	ORPHA:1465
HP:0000708	Atypical behavior	8398	PLA2G6	ORPHA:35069
HP:0000708	Atypical behavior	8398	PLA2G6	OMIM:610217
HP:0000708	Atypical behavior	7080	NKX2-1	ORPHA:209905
HP:0000708	Atypical behavior	1717	DHCR7	OMIM:270400
HP:0000708	Atypical behavior	80856	LNPK	OMIM:618090
HP:0000708	Atypical behavior	26053	AUTS2	ORPHA:352490
HP:0000708	Atypical behavior	26053	AUTS2	OMIM:615834
HP:0000708	Atypical behavior	4297	KMT2A	ORPHA:319182
HP:0000708	Atypical behavior	4297	KMT2A	OMIM:605130
HP:0000708	Atypical behavior	23230	VPS13A	ORPHA:2388
HP:0000708	Atypical behavior	11284	PNKP	OMIM:613402
HP:0000708	Atypical behavior	11284	PNKP	ORPHA:1934
HP:0000708	Atypical behavior	5144	PDE4D	OMIM:614613
HP:0000708	Atypical behavior	5144	PDE4D	ORPHA:280651
HP:0000708	Atypical behavior	23314	SATB2	OMIM:612313
HP:0000708	Atypical behavior	84300	UQCC2	OMIM:615824
HP:0000708	Atypical behavior	2903	GRIN2A	ORPHA:98818
HP:0000708	Atypical behavior	25942	SIN3A	OMIM:613406
HP:0000708	Atypical behavior	7915	ALDH5A1	OMIM:271980
HP:0000708	Atypical behavior	1182	CLCN3	OMIM:619512
HP:0000708	Atypical behavior	5063	PAK3	OMIM:300558
HP:0000708	Atypical behavior	7337	UBE3A	OMIM:105830
HP:0000708	Atypical behavior	7337	UBE3A	ORPHA:98794
HP:0000708	Atypical behavior	7337	UBE3A	ORPHA:411515
HP:0000708	Atypical behavior	80025	PANK2	OMIM:234200
HP:0000708	Atypical behavior	57459	GATAD2B	ORPHA:363686
HP:0000708	Atypical behavior	57459	GATAD2B	OMIM:615074
HP:0000708	Atypical behavior	113179	ADAT3	OMIM:615286
HP:0000708	Atypical behavior	113179	ADAT3	ORPHA:363528
HP:0000708	Atypical behavior	6942	TCF20	OMIM:618430
HP:0000708	Atypical behavior	23261	CAMTA1	OMIM:614756
HP:0000708	Atypical behavior	476	ATP1A1	OMIM:618314
HP:0000708	Atypical behavior	54862	CC2D1A	OMIM:608443
HP:0000708	Atypical behavior	10430	TMEM147	OMIM:620075
HP:0000708	Atypical behavior	8242	KDM5C	OMIM:300534
HP:0000708	Atypical behavior	10743	RAI1	OMIM:182290
HP:0000708	Atypical behavior	26047	CNTNAP2	OMIM:610042
HP:0000708	Atypical behavior	26047	CNTNAP2	ORPHA:163681
HP:0000708	Atypical behavior	10735	STAG2	ORPHA:521258
HP:0000708	Atypical behavior	10165	SLC25A13	ORPHA:247585
HP:0000708	Atypical behavior	3458	IFNG	ORPHA:805
HP:0000708	Atypical behavior	7248	TSC1	ORPHA:805
HP:0000708	Atypical behavior	7249	TSC2	ORPHA:805
HP:0000708	Atypical behavior	147372	CCBE1	OMIM:235510
HP:0000708	Atypical behavior	6509	SLC1A4	ORPHA:447997
HP:0000708	Atypical behavior	6509	SLC1A4	OMIM:616657
HP:0000708	Atypical behavior	6513	SLC2A1	ORPHA:1942
HP:0000708	Atypical behavior	8831	SYNGAP1	ORPHA:1942
HP:0000708	Atypical behavior	1173	AP2M1	ORPHA:1942
HP:0000708	Atypical behavior	6529	SLC6A1	ORPHA:1942
HP:0000708	Atypical behavior	2742	GLRA2	OMIM:301076
HP:0000708	Atypical behavior	3845	KRAS	OMIM:600268
HP:0000708	Atypical behavior	6878	TAF6	OMIM:617126
HP:0000708	Atypical behavior	3736	KCNA1	ORPHA:1934
HP:0000708	Atypical behavior	9091	PIGQ	ORPHA:1934
HP:0000708	Atypical behavior	2775	GNAO1	ORPHA:1934
HP:0000708	Atypical behavior	81603	TRIM8	ORPHA:1934
HP:0000708	Atypical behavior	2902	GRIN1	ORPHA:1934
HP:0000708	Atypical behavior	79751	SLC25A22	ORPHA:1934
HP:0000708	Atypical behavior	150094	SIK1	ORPHA:1934
HP:0000708	Atypical behavior	8573	CASK	ORPHA:1934
HP:0000708	Atypical behavior	23312	DMXL2	ORPHA:1934
HP:0000708	Atypical behavior	2917	GRM7	ORPHA:1934
HP:0000708	Atypical behavior	170302	ARX	ORPHA:1934
HP:0000708	Atypical behavior	6326	SCN2A	ORPHA:1934
HP:0000708	Atypical behavior	51227	PIGP	ORPHA:1934
HP:0000708	Atypical behavior	6324	SCN1B	ORPHA:1934
HP:0000708	Atypical behavior	4761	NEUROD2	ORPHA:1934
HP:0000708	Atypical behavior	54808	DYM	ORPHA:239
HP:0000708	Atypical behavior	10075	HUWE1	OMIM:309590
HP:0000708	Atypical behavior	1203	CLN5	ORPHA:228360
HP:0000708	Atypical behavior	3479	IGF1	ORPHA:73272
HP:0000708	Atypical behavior	3479	IGF1	OMIM:608747
HP:0000708	Atypical behavior	57526	PCDH19	ORPHA:101039
HP:0000708	Atypical behavior	6448	SGSH	OMIM:252900
HP:0000708	Atypical behavior	54517	PUS7	OMIM:618342
HP:0000708	Atypical behavior	4683	NBN	OMIM:251260
HP:0000708	Atypical behavior	23394	ADNP	OMIM:615873
HP:0000708	Atypical behavior	8924	HERC2	OMIM:615516
HP:0000708	Atypical behavior	50814	NSDHL	ORPHA:251383
HP:0000708	Atypical behavior	50814	NSDHL	OMIM:300831
HP:0000708	Atypical behavior	2334	AFF2	ORPHA:100973
HP:0000708	Atypical behavior	2334	AFF2	OMIM:309548
HP:0000708	Atypical behavior	1806	DPYD	OMIM:274270
HP:0000708	Atypical behavior	10157	AASS	ORPHA:2203
HP:0000708	Atypical behavior	10157	AASS	OMIM:238700
HP:0000708	Atypical behavior	5053	PAH	OMIM:261600
HP:0000708	Atypical behavior	5053	PAH	ORPHA:2209
HP:0000708	Atypical behavior	1654	DDX3X	ORPHA:457260
HP:0000708	Atypical behavior	1654	DDX3X	OMIM:300958
HP:0000708	Atypical behavior	3097	HIVEP2	OMIM:616977
HP:0000708	Atypical behavior	1815	DRD4	OMIM:143465
HP:0000708	Atypical behavior	1816	DRD5	OMIM:143465
HP:0000708	Atypical behavior	4948	OCA2	ORPHA:98794
HP:0000708	Atypical behavior	2332	FMR1	ORPHA:449291
HP:0000708	Atypical behavior	2332	FMR1	OMIM:300624
HP:0000708	Atypical behavior	6601	SMARCC2	OMIM:618362
HP:0000708	Atypical behavior	6601	SMARCC2	ORPHA:1465
HP:0000708	Atypical behavior	7468	NSD2	OMIM:619695
HP:0000708	Atypical behavior	85358	SHANK3	ORPHA:48652
HP:0000708	Atypical behavior	85358	SHANK3	OMIM:613950
HP:0000708	Atypical behavior	6597	SMARCA4	ORPHA:1465
HP:0000708	Atypical behavior	6598	SMARCB1	ORPHA:1465
HP:0000708	Atypical behavior	6659	SOX4	ORPHA:1465
HP:0000708	Atypical behavior	5977	DPF2	ORPHA:1465
HP:0000708	Atypical behavior	5977	DPF2	OMIM:618027
HP:0000708	Atypical behavior	6602	SMARCD1	ORPHA:1465
HP:0000708	Atypical behavior	57492	ARID1B	ORPHA:1465
HP:0000708	Atypical behavior	196528	ARID2	ORPHA:1465
HP:0000708	Atypical behavior	6605	SMARCE1	ORPHA:1465
HP:0000708	Atypical behavior	6664	SOX11	ORPHA:1465
HP:0000708	Atypical behavior	201163	FLCN	OMIM:610883
HP:0000708	Atypical behavior	23389	MED13L	ORPHA:369891
HP:0000708	Atypical behavior	22827	PUF60	ORPHA:508488
HP:0000708	Atypical behavior	23258	DENND5A	OMIM:617281
HP:0000708	Atypical behavior	1760	DMPK	ORPHA:589821
HP:0000708	Atypical behavior	164	AP1G1	OMIM:619467
HP:0000708	Atypical behavior	9758	FRMPD4	OMIM:300983
HP:0000708	Atypical behavior	10297	APC2	OMIM:617169
HP:0000708	Atypical behavior	80185	TTI2	OMIM:615541
HP:0000708	Atypical behavior	80185	TTI2	ORPHA:391307
HP:0000708	Atypical behavior	4126	MANBA	OMIM:248510
HP:0000708	Atypical behavior	51305	KCNK9	ORPHA:166108
HP:0000708	Atypical behavior	545	ATR	OMIM:210600
HP:0000708	Atypical behavior	2475	MTOR	ORPHA:457485
HP:0000708	Atypical behavior	23152	CIC	OMIM:617600
HP:0000708	Atypical behavior	4914	NTRK1	OMIM:256800
HP:0000708	Atypical behavior	4914	NTRK1	ORPHA:642
HP:0000708	Atypical behavior	6697	SPR	OMIM:612716
HP:0000708	Atypical behavior	84065	TMEM222	OMIM:619470
HP:0000708	Atypical behavior	116442	RAB39B	OMIM:300271
HP:0000708	Atypical behavior	134218	DNAJC21	OMIM:617052
HP:0000708	Atypical behavior	10367	MICU1	OMIM:615673
HP:0000708	Atypical behavior	22866	CNKSR2	OMIM:301008
HP:0000708	Atypical behavior	6711	SPTBN1	OMIM:619475
HP:0000708	Atypical behavior	3747	KCNC2	OMIM:619913
HP:0000708	Atypical behavior	1859	DYRK1A	OMIM:614104
HP:0000708	Atypical behavior	8452	CUL3	OMIM:619239
HP:0000708	Atypical behavior	9968	MED12	OMIM:309520
HP:0000708	Atypical behavior	7343	UBTF	ORPHA:500180
HP:0000708	Atypical behavior	63932	STEEP1	OMIM:301013
HP:0000708	Atypical behavior	10681	GNB5	OMIM:617182
HP:0000708	Atypical behavior	57477	SHROOM4	ORPHA:85288
HP:0000708	Atypical behavior	57688	ZSWIM6	OMIM:617865
HP:0000708	Atypical behavior	2890	GRIA1	OMIM:619927
HP:0000708	Atypical behavior	5625	PRODH	OMIM:239500
HP:0000708	Atypical behavior	2799	GNS	OMIM:252940
HP:0000708	Atypical behavior	84628	NTNG2	OMIM:618718
HP:0000708	Atypical behavior	9759	HDAC4	OMIM:600430
HP:0000708	Atypical behavior	95	ACY1	OMIM:609924
HP:0000708	Atypical behavior	9320	TRIP12	OMIM:617752
HP:0000708	Atypical behavior	5879	RAC1	OMIM:617751
HP:0000708	Atypical behavior	383	ARG1	OMIM:207800
HP:0000708	Atypical behavior	284058	KANSL1	OMIM:610443
HP:0000708	Atypical behavior	5718	PSMD12	OMIM:617516
HP:0000708	Atypical behavior	11043	MID2	OMIM:300928
HP:0000708	Atypical behavior	138050	HGSNAT	OMIM:252930
HP:0000708	Atypical behavior	10079	ATP9A	OMIM:620242
HP:0000708	Atypical behavior	5727	PTCH1	ORPHA:77301
HP:0000708	Atypical behavior	4860	PNP	ORPHA:760
HP:0000708	Atypical behavior	11141	IL1RAPL1	OMIM:300143
HP:0000708	Atypical behavior	23102	TBC1D2B	ORPHA:397973
HP:0000708	Atypical behavior	1804	DPP6	OMIM:616311
HP:0000708	Atypical behavior	55367	PIDD1	OMIM:619827
HP:0000708	Atypical behavior	5518	PPP2R1A	ORPHA:457284
HP:0000708	Atypical behavior	161742	SPRED1	ORPHA:137605
HP:0000708	Atypical behavior	57194	ATP10A	ORPHA:411515
HP:0000708	Atypical behavior	4669	NAGLU	OMIM:252920
HP:0000708	Atypical behavior	25978	CHMP2B	ORPHA:275864
HP:0000708	Atypical behavior	25978	CHMP2B	OMIM:600795
HP:0000708	Atypical behavior	5663	PSEN1	ORPHA:275864
HP:0000708	Atypical behavior	2896	GRN	ORPHA:275864
HP:0000708	Atypical behavior	54664	TMEM106B	ORPHA:275864
HP:0000708	Atypical behavior	8878	SQSTM1	ORPHA:275864
HP:0000708	Atypical behavior	4137	MAPT	ORPHA:275864
HP:0000708	Atypical behavior	54209	TREM2	ORPHA:275864
HP:0000708	Atypical behavior	7415	VCP	ORPHA:275864
HP:0000708	Atypical behavior	6908	TBP	OMIM:607136
HP:0000708	Atypical behavior	7305	TYROBP	OMIM:221770
HP:0000708	Atypical behavior	57502	NLGN4X	OMIM:300495
HP:0000708	Atypical behavior	54413	NLGN3	OMIM:300425
HP:0000708	Atypical behavior	6638	SNRPN	OMIM:209850
HP:0000708	Atypical behavior	56947	MFF	ORPHA:485421
HP:0000708	Atypical behavior	25915	NDUFAF3	ORPHA:2609
HP:0000708	Atypical behavior	25915	NDUFAF3	OMIM:618240
HP:0000708	Atypical behavior	51103	NDUFAF1	ORPHA:2609
HP:0000708	Atypical behavior	51300	TIMMDC1	ORPHA:2609
HP:0000708	Atypical behavior	4716	NDUFB10	ORPHA:2609
HP:0000708	Atypical behavior	284184	NDUFAF8	ORPHA:2609
HP:0000708	Atypical behavior	55863	TMEM126B	ORPHA:2609
HP:0000708	Atypical behavior	4537	MT-ND3	ORPHA:2609
HP:0000708	Atypical behavior	4726	NDUFS6	ORPHA:2609
HP:0000708	Atypical behavior	126328	NDUFA11	ORPHA:2609
HP:0000708	Atypical behavior	4709	NDUFB3	ORPHA:2609
HP:0000708	Atypical behavior	80224	NUBPL	ORPHA:2609
HP:0000708	Atypical behavior	4536	MT-ND2	ORPHA:2609
HP:0000708	Atypical behavior	4715	NDUFB9	ORPHA:2609
HP:0000708	Atypical behavior	8506	CNTNAP1	OMIM:618186
HP:0000708	Atypical behavior	10564	ARFGEF2	OMIM:608097
HP:0000708	Atypical behavior	85476	GFM1	OMIM:609060
HP:0000708	Atypical behavior	9254	CACNA2D2	OMIM:618501
HP:0000708	Atypical behavior	7360	UGP2	OMIM:618744
HP:0000708	Atypical behavior	53616	ADAM22	OMIM:617933
HP:0000708	Atypical behavior	80222	TARS2	OMIM:615918
HP:0000708	Atypical behavior	60558	GUF1	OMIM:617065
HP:0000708	Atypical behavior	5917	RARS1	ORPHA:438114
HP:0000708	Atypical behavior	23287	AGTPBP1	OMIM:618276
HP:0000708	Atypical behavior	2904	GRIN2B	OMIM:616139
HP:0000708	Atypical behavior	4718	NDUFC2	OMIM:619170
HP:0000708	Atypical behavior	125988	MICOS13	OMIM:618329
HP:0000708	Atypical behavior	8604	SLC25A12	OMIM:612949
HP:0000708	Atypical behavior	3658	IREB2	OMIM:618451
HP:0000708	Atypical behavior	4927	NUP88	ORPHA:994
HP:0000708	Atypical behavior	4654	MYOD1	ORPHA:994
HP:0000708	Atypical behavior	4593	MUSK	ORPHA:994
HP:0000708	Atypical behavior	5913	RAPSN	ORPHA:994
HP:0000708	Atypical behavior	285489	DOK7	ORPHA:994
HP:0000708	Atypical behavior	4552	MTRR	ORPHA:2169
HP:0000708	Atypical behavior	29954	POMT2	OMIM:236670
HP:0000708	Atypical behavior	9215	LARGE1	OMIM:236670
HP:0000708	Atypical behavior	79147	FKRP	OMIM:236670
HP:0000708	Atypical behavior	7187	TRAF3	ORPHA:1930
HP:0000708	Atypical behavior	81622	UNC93B1	ORPHA:1930
HP:0000708	Atypical behavior	148022	TICAM1	ORPHA:1930
HP:0000708	Atypical behavior	7098	TLR3	ORPHA:1930
HP:0000708	Atypical behavior	6584	SLC22A5	OMIM:212140
HP:0000708	Atypical behavior	29925	GMPPB	OMIM:615350
HP:0000708	Atypical behavior	104	ADARB1	OMIM:618862
HP:0000708	Atypical behavior	55823	VPS11	OMIM:616683
HP:0000708	Atypical behavior	55823	VPS11	ORPHA:466934
HP:0000708	Atypical behavior	51569	UFM1	OMIM:617899
HP:0000708	Atypical behavior	79848	CSPP1	ORPHA:397715
HP:0000708	Atypical behavior	9786	KIAA0586	ORPHA:397715
HP:0000708	Atypical behavior	387787	LIPT2	OMIM:617668
HP:0000708	Atypical behavior	166378	AFG2A	OMIM:616577
HP:0000708	Atypical behavior	65082	VPS33A	OMIM:617303
HP:0000708	Atypical behavior	65082	VPS33A	ORPHA:505248
HP:0000708	Atypical behavior	10565	ARFGEF1	OMIM:619964
HP:0000708	Atypical behavior	5610	EIF2AK2	OMIM:618877
HP:0000708	Atypical behavior	170825	GSX2	OMIM:618646
HP:0000708	Atypical behavior	7920	ABHD16A	OMIM:619735
HP:0000708	Atypical behavior	283987	HID1	OMIM:619983
HP:0000708	Atypical behavior	22884	WDR37	OMIM:618652
HP:0000708	Atypical behavior	1193	CLIC2	ORPHA:324410
HP:0000708	Atypical behavior	1193	CLIC2	OMIM:300886
HP:0000708	Atypical behavior	6905	TBCE	OMIM:617207
HP:0000708	Atypical behavior	54828	BCAS3	OMIM:619641
HP:0000708	Atypical behavior	122961	ISCA2	OMIM:616370
HP:0000708	Atypical behavior	253959	RALGAPA1	OMIM:618797
HP:0000708	Atypical behavior	9562	MINPP1	OMIM:619527
HP:0000708	Atypical behavior	10667	FARS2	ORPHA:466722
HP:0000708	Atypical behavior	23556	PIGN	OMIM:614080
HP:0000708	Atypical behavior	51645	PPIL1	OMIM:619301
HP:0000708	Atypical behavior	58497	PRUNE1	OMIM:617481
HP:0000708	Atypical behavior	58497	PRUNE1	ORPHA:544469
HP:0000708	Atypical behavior	55656	INTS8	OMIM:618572
HP:0000708	Atypical behavior	51693	TRAPPC2L	OMIM:618331
HP:0000708	Atypical behavior	5277	PIGA	OMIM:301072
HP:0000708	Atypical behavior	5277	PIGA	OMIM:300868
HP:0000708	Atypical behavior	11160	ERLIN2	ORPHA:280384
HP:0000708	Atypical behavior	11160	ERLIN2	ORPHA:209951
HP:0000708	Atypical behavior	11160	ERLIN2	OMIM:611225
HP:0000708	Atypical behavior	92335	STRADA	ORPHA:500533
HP:0000708	Atypical behavior	92335	STRADA	OMIM:611087
HP:0000708	Atypical behavior	8818	DPM2	ORPHA:329178
HP:0000708	Atypical behavior	9526	MPDU1	OMIM:609180
HP:0000708	Atypical behavior	10733	PLK4	OMIM:616171
HP:0000708	Atypical behavior	154881	KCTD7	OMIM:611726
HP:0000708	Atypical behavior	56915	EXOSC5	OMIM:619576
HP:0000708	Atypical behavior	7965	AIMP2	OMIM:618006
HP:0000708	Atypical behavior	51608	GET4	OMIM:620200
HP:0000708	Atypical behavior	1822	ATN1	OMIM:618494
HP:0000708	Atypical behavior	22983	MAST1	OMIM:618273
HP:0000708	Atypical behavior	57038	RARS2	OMIM:611523
HP:0000708	Atypical behavior	777	CACNA1E	OMIM:618285
HP:0000708	Atypical behavior	55835	CENPJ	OMIM:608393
HP:0000708	Atypical behavior	55005	RMND1	OMIM:614922
HP:0000708	Atypical behavior	84081	NSRP1	OMIM:620001
HP:0000708	Atypical behavior	124454	EARS2	OMIM:614924
HP:0000708	Atypical behavior	1795	DOCK3	OMIM:618292
HP:0000708	Atypical behavior	60684	TRAPPC11	ORPHA:369840
HP:0000708	Atypical behavior	27072	VPS41	OMIM:619389
HP:0000708	Atypical behavior	87178	PNPT1	OMIM:614932
HP:0000708	Atypical behavior	87178	PNPT1	ORPHA:319514
HP:0000708	Atypical behavior	347734	SLC35B2	OMIM:620269
HP:0000708	Atypical behavior	55325	UFSP2	OMIM:620028
HP:0000708	Atypical behavior	8496	PPFIBP1	OMIM:620024
HP:0000708	Atypical behavior	89910	UBE3B	OMIM:244450
HP:0000708	Atypical behavior	64207	IRF2BPL	OMIM:618088
HP:0000708	Atypical behavior	55157	DARS2	ORPHA:137898
HP:0000708	Atypical behavior	894	CCND2	OMIM:615938
HP:0000708	Atypical behavior	84947	SERAC1	OMIM:614739
HP:0000708	Atypical behavior	9255	AIMP1	OMIM:260600
HP:0000708	Atypical behavior	83475	DOHH	OMIM:620066
HP:0000708	Atypical behavior	5700	PSMC1	OMIM:620071
HP:0000708	Atypical behavior	55691	FRMD4A	OMIM:616819
HP:0000708	Atypical behavior	55691	FRMD4A	ORPHA:466688
HP:0000708	Atypical behavior	3187	HNRNPH1	OMIM:620083
HP:0000708	Atypical behavior	7355	SLC35A2	OMIM:300896
HP:0000708	Atypical behavior	50628	GEMIN4	OMIM:617913
HP:0000708	Atypical behavior	51807	TUBA8	ORPHA:250972
HP:0000708	Atypical behavior	7280	TUBB2A	OMIM:615763
HP:0000708	Atypical behavior	51010	EXOSC3	OMIM:614678
HP:0000708	Atypical behavior	9512	PMPCB	OMIM:617954
HP:0000708	Atypical behavior	84342	COG8	OMIM:611182
HP:0000708	Atypical behavior	55969	RAB5IF	OMIM:616994
HP:0000708	Atypical behavior	22931	RAB18	OMIM:614222
HP:0000708	Atypical behavior	56270	WDR45B	OMIM:617977
HP:0000708	Atypical behavior	6182	MRPL12	OMIM:618951
HP:0000708	Atypical behavior	200894	ARL13B	OMIM:612291
HP:0000708	Atypical behavior	79867	TCTN2	OMIM:616654
HP:0000708	Atypical behavior	55704	CCDC88A	OMIM:617507
HP:0000708	Atypical behavior	3756	KCNH1	ORPHA:420561
HP:0000708	Atypical behavior	9197	SLC33A1	OMIM:614482
HP:0000708	Atypical behavior	57731	SPTBN4	OMIM:617519
HP:0000708	Atypical behavior	2937	GSS	OMIM:266130
HP:0000708	Atypical behavior	261734	NPHP4	OMIM:606996
HP:0000708	Atypical behavior	261734	NPHP4	OMIM:606966
HP:0000708	Atypical behavior	54585	LZTFL1	OMIM:615994
HP:0000708	Atypical behavior	6928	HNF1B	ORPHA:93111
HP:0000708	Atypical behavior	79577	CDC73	ORPHA:143
HP:0000708	Atypical behavior	79577	CDC73	ORPHA:99880
HP:0000708	Atypical behavior	4867	NPHP1	OMIM:266900
HP:0000708	Atypical behavior	4867	NPHP1	OMIM:256100
HP:0000708	Atypical behavior	51473	DCDC2	ORPHA:84081
HP:0000708	Atypical behavior	10686	CLDN16	OMIM:248250
HP:0000708	Atypical behavior	199221	DZIP1L	ORPHA:731
HP:0000708	Atypical behavior	5314	PKHD1	ORPHA:731
HP:0000708	Atypical behavior	9071	CLDN10	OMIM:617671
HP:0000708	Atypical behavior	9365	KL	OMIM:617994
HP:0000708	Atypical behavior	3762	KCNJ5	OMIM:613677
HP:0000708	Atypical behavior	3762	KCNJ5	ORPHA:251274
HP:0000708	Atypical behavior	3643	INSR	ORPHA:769
HP:0000708	Atypical behavior	1584	CYP11B1	ORPHA:403
HP:0000708	Atypical behavior	1585	CYP11B2	ORPHA:403
HP:0000708	Atypical behavior	3291	HSD11B2	ORPHA:320
HP:0000708	Atypical behavior	7809	BSND	OMIM:602522
HP:0000708	Atypical behavior	26191	PTPN22	OMIM:222100
HP:0000708	Atypical behavior	3710	ITPR3	OMIM:222100
HP:0000708	Atypical behavior	3569	IL6	OMIM:222100
HP:0000708	Atypical behavior	6927	HNF1A	OMIM:222100
HP:0000708	Atypical behavior	776	CACNA1D	ORPHA:369929
HP:0000708	Atypical behavior	254428	SLC41A1	OMIM:619468
HP:0000708	Atypical behavior	3758	KCNJ1	OMIM:241200
HP:0000708	Atypical behavior	9860	LRIG2	ORPHA:2704
HP:0000708	Atypical behavior	60495	HPSE2	ORPHA:2704
HP:0000708	Atypical behavior	27031	NPHP3	OMIM:604387
HP:0000708	Atypical behavior	6524	SLC5A2	OMIM:233100
HP:0000708	Atypical behavior	5286	PIK3C2A	ORPHA:557003
HP:0000708	Atypical behavior	23141	ANKLE2	OMIM:616681
HP:0000708	Atypical behavior	9378	NRXN1	OMIM:614325
HP:0000708	Atypical behavior	11128	POLR3A	ORPHA:447896
HP:0000708	Atypical behavior	11128	POLR3A	OMIM:607694
HP:0000708	Atypical behavior	55617	TASP1	OMIM:618950
HP:0000708	Atypical behavior	5376	PMP22	ORPHA:98916
HP:0000708	Atypical behavior	84842	HPDL	OMIM:619026
HP:0000708	Atypical behavior	79628	SH3TC2	ORPHA:99949
HP:0000708	Atypical behavior	27183	VPS4A	OMIM:619273
HP:0000708	Atypical behavior	8367	H4C5	OMIM:619950
HP:0000708	Atypical behavior	23019	CNOT1	OMIM:619033
HP:0000708	Atypical behavior	84942	WDR73	OMIM:251300
HP:0000708	Atypical behavior	1161	ERCC8	ORPHA:90321
HP:0000708	Atypical behavior	2072	ERCC4	ORPHA:90321
HP:0000708	Atypical behavior	2074	ERCC6	ORPHA:90321
HP:0000708	Atypical behavior	55209	SETD5	ORPHA:404440
HP:0000708	Atypical behavior	3060	HCRT	ORPHA:83465
HP:0000708	Atypical behavior	3060	HCRT	ORPHA:2073
HP:0000708	Atypical behavior	22891	ZNF365	ORPHA:83465
HP:0000708	Atypical behavior	22891	ZNF365	ORPHA:2073
HP:0000708	Atypical behavior	3123	HLA-DRB1	ORPHA:83465
HP:0000708	Atypical behavior	3123	HLA-DRB1	ORPHA:2073
HP:0000708	Atypical behavior	116931	MED12L	OMIM:618872
HP:0000708	Atypical behavior	2314	FLII	ORPHA:819
HP:0000708	Atypical behavior	23096	IQSEC2	ORPHA:819
HP:0000708	Atypical behavior	10522	DEAF1	ORPHA:819
HP:0000708	Atypical behavior	10522	DEAF1	OMIM:615828
HP:0000708	Atypical behavior	10522	DEAF1	OMIM:617171
HP:0000708	Atypical behavior	10522	DEAF1	ORPHA:468620
HP:0000708	Atypical behavior	57589	RIC1	OMIM:618761
HP:0000708	Atypical behavior	9739	SETD1A	OMIM:619056
HP:0000708	Atypical behavior	1757	SARDH	ORPHA:3129
HP:0000708	Atypical behavior	7021	TFAP2B	ORPHA:46627
HP:0000708	Atypical behavior	816	CAMK2B	OMIM:617799
HP:0000708	Atypical behavior	7528	YY1	OMIM:617557
HP:0000708	Atypical behavior	3423	IDS	ORPHA:217085
HP:0000708	Atypical behavior	3423	IDS	ORPHA:217093
HP:0000708	Atypical behavior	9839	ZEB2	ORPHA:261552
HP:0000708	Atypical behavior	9839	ZEB2	ORPHA:261537
HP:0000708	Atypical behavior	57190	SELENON	ORPHA:2020
HP:0000708	Atypical behavior	58	ACTA1	ORPHA:2020
HP:0000708	Atypical behavior	4633	MYL2	ORPHA:2020
HP:0000708	Atypical behavior	3679	ITGA7	ORPHA:2020
HP:0000708	Atypical behavior	7169	TPM2	ORPHA:2020
HP:0000708	Atypical behavior	9200	HACD1	ORPHA:2020
HP:0000708	Atypical behavior	7170	TPM3	ORPHA:2020
HP:0000708	Atypical behavior	51776	MAP3K20	ORPHA:2020
HP:0000708	Atypical behavior	833	CARS1	OMIM:618891
HP:0000708	Atypical behavior	790955	UQCC3	OMIM:616111
HP:0000708	Atypical behavior	3340	NDST1	OMIM:616116
HP:0000708	Atypical behavior	175	AGA	ORPHA:93
HP:0000708	Atypical behavior	7840	ALMS1	ORPHA:64
HP:0000708	Atypical behavior	9131	AIFM1	ORPHA:101078
HP:0000708	Atypical behavior	1621	DBH	ORPHA:230
HP:0000708	Atypical behavior	2321	FLT1	ORPHA:275555
HP:0000708	Atypical behavior	219736	STOX1	ORPHA:275555
HP:0000708	Atypical behavior	10699	CORIN	ORPHA:275555
HP:0000708	Atypical behavior	493856	CISD2	ORPHA:3463
HP:0000708	Atypical behavior	7466	WFS1	ORPHA:3463
HP:0000708	Atypical behavior	8659	ALDH4A1	ORPHA:79101
HP:0000708	Atypical behavior	22859	ADGRL1	OMIM:620065
HP:0000708	Atypical behavior	25814	ATXN10	ORPHA:98761
HP:0000708	Atypical behavior	51611	DPH5	OMIM:620070
HP:0000708	Atypical behavior	55210	ATAD3A	ORPHA:496790
HP:0000708	Atypical behavior	26137	ZBTB20	OMIM:259050
HP:0000708	Atypical behavior	256471	MFSD8	OMIM:610951
HP:0000708	Atypical behavior	3662	IRF4	ORPHA:3452
HP:0000708	Atypical behavior	7443	VRK1	OMIM:607596
HP:0000708	Atypical behavior	55343	SLC35C1	ORPHA:99843
HP:0000708	Atypical behavior	4692	NDN	ORPHA:98754
HP:0000708	Atypical behavior	4692	NDN	ORPHA:177904
HP:0000708	Atypical behavior	4692	NDN	ORPHA:177901
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:98754
HP:0000708	Atypical behavior	54551	MAGEL2	OMIM:176270
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:177904
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:177901
HP:0000708	Atypical behavior	7030	TFE3	OMIM:301066
HP:0000708	Atypical behavior	7994	KAT6A	OMIM:616268
HP:0000708	Atypical behavior	51574	LARP7	ORPHA:319671
HP:0000708	Atypical behavior	5836	PYGL	ORPHA:369
HP:0000708	Atypical behavior	55023	PHIP	ORPHA:589905
HP:0000708	Atypical behavior	1917	EEF1A2	OMIM:616393
HP:0000708	Atypical behavior	5256	PHKA2	ORPHA:264580
HP:0000708	Atypical behavior	5261	PHKG2	ORPHA:264580
HP:0000708	Atypical behavior	10801	SEPTIN9	ORPHA:2901
HP:0000708	Atypical behavior	22907	DHX30	OMIM:617804
HP:0000708	Atypical behavior	57724	EPG5	ORPHA:1493
HP:0000708	Atypical behavior	10785	WDR4	OMIM:618347
HP:0000708	Atypical behavior	3067	HDC	OMIM:137580
HP:0000708	Atypical behavior	114798	SLITRK1	OMIM:137580
HP:0000708	Atypical behavior	6571	SLC18A2	ORPHA:352649
HP:0000708	Atypical behavior	6571	SLC18A2	OMIM:618049
HP:0000708	Atypical behavior	26115	TANC2	OMIM:618906
HP:0000708	Atypical behavior	7681	MKRN3	OMIM:176270
HP:0000708	Atypical behavior	3653	IPW	OMIM:176270
HP:0000708	Atypical behavior	791114	PWRN1	OMIM:176270
HP:0000708	Atypical behavior	100033413	SNORD116-1	OMIM:176270
HP:0000708	Atypical behavior	145624	PWAR1	OMIM:176270
HP:0000708	Atypical behavior	23742	NPAP1	OMIM:176270
HP:0000708	Atypical behavior	338433	SNORD115-1	OMIM:176270
HP:0000708	Atypical behavior	26275	HIBCH	ORPHA:88639
HP:0000708	Atypical behavior	79868	ALG13	OMIM:300884
HP:0000708	Atypical behavior	29998	BICRA	OMIM:619325
HP:0000708	Atypical behavior	112939	NACC1	ORPHA:500545
HP:0000708	Atypical behavior	112939	NACC1	OMIM:617393
HP:0000708	Atypical behavior	1644	DDC	OMIM:608643
HP:0000708	Atypical behavior	11152	WDR45	ORPHA:329284
HP:0000708	Atypical behavior	443	ASPA	ORPHA:314911
HP:0000708	Atypical behavior	8120	AP3B2	OMIM:617276
HP:0000708	Atypical behavior	2743	GLRB	ORPHA:3197
HP:0000708	Atypical behavior	2741	GLRA1	ORPHA:3197
HP:0000708	Atypical behavior	10243	GPHN	ORPHA:3197
HP:0000708	Atypical behavior	84896	ATAD1	ORPHA:3197
HP:0000708	Atypical behavior	9152	SLC6A5	ORPHA:3197
HP:0000708	Atypical behavior	10524	KAT5	OMIM:619103
HP:0000708	Atypical behavior	2009	EML1	OMIM:600348
HP:0000708	Atypical behavior	8802	SUCLG1	ORPHA:17
HP:0000708	Atypical behavior	128637	TBC1D20	OMIM:615663
HP:0000708	Atypical behavior	6304	SATB1	OMIM:619228
HP:0000708	Atypical behavior	6304	SATB1	OMIM:619229
HP:0000708	Atypical behavior	4287	ATXN3	ORPHA:276238
HP:0000708	Atypical behavior	4287	ATXN3	ORPHA:276244
HP:0000708	Atypical behavior	4287	ATXN3	ORPHA:276241
HP:0000708	Atypical behavior	23476	BRD4	ORPHA:199
HP:0000708	Atypical behavior	9126	SMC3	ORPHA:199
HP:0000708	Atypical behavior	25836	NIPBL	ORPHA:199
HP:0000708	Atypical behavior	55869	HDAC8	ORPHA:199
HP:0000708	Atypical behavior	5885	RAD21	ORPHA:199
HP:0000708	Atypical behavior	7874	USP7	ORPHA:500055
HP:0000708	Atypical behavior	10664	CTCF	ORPHA:363611
HP:0000708	Atypical behavior	11019	LIAS	OMIM:614462
HP:0000708	Atypical behavior	2643	GCH1	ORPHA:98808
HP:0000708	Atypical behavior	3615	IMPDH2	ORPHA:98808
HP:0000708	Atypical behavior	51091	SEPSECS	OMIM:613811
HP:0000708	Atypical behavior	51091	SEPSECS	ORPHA:2524
HP:0000708	Atypical behavior	3425	IDUA	ORPHA:93473
HP:0000708	Atypical behavior	25914	RTTN	ORPHA:468631
HP:0000708	Atypical behavior	6925	TCF4	ORPHA:2896
HP:0000708	Atypical behavior	11198	SUPT16H	OMIM:619480
HP:0000708	Atypical behavior	3594	IL12RB1	ORPHA:186
HP:0000708	Atypical behavior	23534	TNPO3	ORPHA:186
HP:0000708	Atypical behavior	3592	IL12A	ORPHA:186
HP:0000708	Atypical behavior	6689	SPIB	ORPHA:186
HP:0000708	Atypical behavior	5450	POU2AF1	ORPHA:186
HP:0000708	Atypical behavior	9966	TNFSF15	ORPHA:186
HP:0000708	Atypical behavior	79258	MMEL1	ORPHA:186
HP:0000708	Atypical behavior	3663	IRF5	ORPHA:186
HP:0000708	Atypical behavior	100147744	RNU7-1	OMIM:619487
HP:0000708	Atypical behavior	2670	GFAP	ORPHA:363722
HP:0000708	Atypical behavior	6857	SYT1	ORPHA:522077
HP:0000708	Atypical behavior	7204	TRIO	ORPHA:476126
HP:0000708	Atypical behavior	23112	TNRC6B	OMIM:619243
HP:0000708	Atypical behavior	91875	TTC5	OMIM:619244
HP:0000708	Atypical behavior	283989	TSEN54	ORPHA:2524
HP:0000708	Atypical behavior	116461	TSEN15	ORPHA:2524
HP:0000708	Atypical behavior	79042	TSEN34	ORPHA:2524
HP:0000708	Atypical behavior	80746	TSEN2	ORPHA:2524
HP:0000708	Atypical behavior	118924	FRA10AC1	OMIM:620113
HP:0000708	Atypical behavior	1512	CTSH	ORPHA:2073
HP:0000708	Atypical behavior	5032	P2RY11	ORPHA:2073
HP:0000708	Atypical behavior	4340	MOG	ORPHA:2073
HP:0000708	Atypical behavior	7292	TNFSF4	ORPHA:2073
HP:0000708	Atypical behavior	5538	PPT1	OMIM:256730
HP:0000708	Atypical behavior	5455	POU3F3	OMIM:618604
HP:0000708	Atypical behavior	9439	MED23	OMIM:614249
HP:0000708	Atypical behavior	5430	POLR2A	OMIM:618603
HP:0000708	Atypical behavior	4693	NDP	ORPHA:649
HP:0000708	Atypical behavior	8665	EIF3F	OMIM:618295
HP:0000708	Atypical behavior	3832	KIF11	OMIM:152950
HP:0000708	Atypical behavior	284361	EMC10	OMIM:619264
HP:0000708	Atypical behavior	128674	PROKR2	ORPHA:3157
HP:0000708	Atypical behavior	6657	SOX2	ORPHA:3157
HP:0000708	Atypical behavior	6658	SOX3	ORPHA:3157
HP:0000708	Atypical behavior	9915	ARNT2	ORPHA:3157
HP:0000708	Atypical behavior	8820	HESX1	ORPHA:3157
HP:0000708	Atypical behavior	5015	OTX2	ORPHA:3157
HP:0000708	Atypical behavior	9896	FIG4	ORPHA:208441
HP:0000708	Atypical behavior	9896	FIG4	OMIM:612691
HP:0000708	Atypical behavior	5649	RELN	ORPHA:101046
HP:0000708	Atypical behavior	9211	LGI1	ORPHA:101046
HP:0000708	Atypical behavior	9681	DEPDC5	ORPHA:101046
HP:0000708	Atypical behavior	9681	DEPDC5	ORPHA:98820
HP:0000708	Atypical behavior	80331	DNAJC5	OMIM:162350
HP:0000708	Atypical behavior	25793	FBXO7	ORPHA:171695
HP:0000708	Atypical behavior	23400	ATP13A2	ORPHA:306674
HP:0000708	Atypical behavior	7957	EPM2A	OMIM:254780
HP:0000708	Atypical behavior	7957	EPM2A	ORPHA:501
HP:0000708	Atypical behavior	378884	NHLRC1	OMIM:254780
HP:0000708	Atypical behavior	378884	NHLRC1	ORPHA:501
HP:0000708	Atypical behavior	54982	CLN6	OMIM:204300
HP:0000708	Atypical behavior	23317	DNAJC13	ORPHA:411602
HP:0000708	Atypical behavior	1981	EIF4G1	ORPHA:411602
HP:0000708	Atypical behavior	55737	VPS35	ORPHA:411602
HP:0000708	Atypical behavior	26058	GIGYF2	ORPHA:411602
HP:0000708	Atypical behavior	1201	CLN3	ORPHA:228346
HP:0000708	Atypical behavior	6620	SNCB	OMIM:127750
HP:0000708	Atypical behavior	83480	PUS3	ORPHA:488627
HP:0000708	Atypical behavior	8131	NPRL3	ORPHA:98820
HP:0000708	Atypical behavior	10641	NPRL2	ORPHA:98820
HP:0000708	Atypical behavior	3975	LHX1	ORPHA:261265
HP:0000708	Atypical behavior	6696	SPP1	ORPHA:93552
HP:0000708	Atypical behavior	3654	IRAK1	ORPHA:93552
HP:0000708	Atypical behavior	2705	GJB1	ORPHA:101075
HP:0000708	Atypical behavior	3181	HNRNPA2B1	ORPHA:52430
HP:0000708	Atypical behavior	5048	PAFAH1B1	ORPHA:95232
HP:0000708	Atypical behavior	79158	GNPTAB	ORPHA:576
HP:0000708	Atypical behavior	8565	YARS1	OMIM:619418
HP:0000708	Atypical behavior	5122	PCSK1	ORPHA:71528
HP:0000708	Atypical behavior	4160	MC4R	ORPHA:71529
HP:0000708	Atypical behavior	4160	MC4R	OMIM:618406
HP:0000708	Atypical behavior	5443	POMC	ORPHA:71526
HP:0000708	Atypical behavior	5443	POMC	OMIM:609734
HP:0000708	Atypical behavior	3952	LEP	ORPHA:66628
HP:0000708	Atypical behavior	3952	LEP	OMIM:614962
HP:0000708	Atypical behavior	6519	SLC3A1	ORPHA:163690
HP:0000708	Atypical behavior	9581	PREPL	ORPHA:163690
HP:0000708	Atypical behavior	506	ATP5F1B	OMIM:620085
HP:0000708	Atypical behavior	10555	AGPAT2	OMIM:608594
HP:0000708	Atypical behavior	109	ADCY3	OMIM:617885
HP:0000708	Atypical behavior	59341	TRPV4	OMIM:606071
HP:0000708	Atypical behavior	8087	FXR1	OMIM:618822
HP:0000708	Atypical behavior	8087	FXR1	OMIM:618823
HP:0000708	Atypical behavior	6452	SH3BP2	ORPHA:184
HP:0000708	Atypical behavior	23299	BICD2	OMIM:615290
HP:0000708	Atypical behavior	650	BMP2	OMIM:617877
HP:0000708	Atypical behavior	1513	CTSK	ORPHA:763
HP:0000708	Atypical behavior	9401	RECQL4	OMIM:218600
HP:0000708	Atypical behavior	55770	EXOC2	OMIM:619306
HP:0000708	Atypical behavior	3265	HRAS	OMIM:218040
HP:0000708	Atypical behavior	760	CA2	ORPHA:2785
HP:0000708	Atypical behavior	89970	RSPRY1	ORPHA:457395
HP:0000708	Atypical behavior	171023	ASXL1	ORPHA:97297
HP:0000708	Atypical behavior	79813	EHMT1	ORPHA:261652
HP:0000708	Atypical behavior	58508	KMT2C	ORPHA:261652
HP:0000708	Atypical behavior	8925	HERC1	ORPHA:457359
HP:0000708	Atypical behavior	25970	SH2B1	ORPHA:261197
HP:0000708	Atypical behavior	2592	GALT	ORPHA:79239
HP:0000708	Atypical behavior	93986	FOXP2	ORPHA:209908
HP:0000708	Atypical behavior	93986	FOXP2	OMIM:602081
HP:0000708	Atypical behavior	8864	PER2	OMIM:604348
HP:0000708	Atypical behavior	5664	PSEN2	OMIM:606889
HP:0000708	Atypical behavior	6872	TAF1	OMIM:300966
HP:0000708	Atypical behavior	2892	GRIA3	ORPHA:364028
HP:0000708	Atypical behavior	2260	FGFR1	ORPHA:220386
HP:0000708	Atypical behavior	2260	FGFR1	ORPHA:93924
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:220386
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93926
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93924
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93925
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:220386
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93926
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93924
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93925
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:220386
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93926
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93924
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93925
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:220386
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93926
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93924
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93925
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:220386
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93926
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93924
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93925
HP:0000708	Atypical behavior	6469	SHH	ORPHA:220386
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93926
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93924
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93925
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:220386
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93926
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93924
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93925
HP:0000708	Atypical behavior	6491	STIL	ORPHA:220386
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93926
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93924
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93925
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:220386
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93926
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93924
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93925
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:220386
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93926
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93924
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93925
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:220386
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93926
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93924
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93925
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:220386
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93926
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93924
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93925
HP:0000708	Atypical behavior	50937	CDON	ORPHA:220386
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93926
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93924
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93925
HP:0000708	Atypical behavior	815	CAMK2A	OMIM:617798
HP:0000708	Atypical behavior	1453	CSNK1D	OMIM:615224
HP:0000708	Atypical behavior	9894	TELO2	ORPHA:488642
HP:0000708	Atypical behavior	23007	PLCH1	ORPHA:93925
HP:0000708	Atypical behavior	26224	FBXL3	OMIM:606220
HP:0000708	Atypical behavior	128	ADH5	OMIM:619151
HP:0000708	Atypical behavior	1139	CHRNA7	ORPHA:199318
HP:0000708	Atypical behavior	1024	CDK8	OMIM:618748
HP:0000708	Atypical behavior	6687	SPG7	ORPHA:99013
HP:0000708	Atypical behavior	4774	NFIA	ORPHA:401986
HP:0000708	Atypical behavior	55790	CSGALNACT1	OMIM:618870
HP:0000708	Atypical behavior	5689	PSMB1	OMIM:620038
HP:0000708	Atypical behavior	9723	SEMA3E	ORPHA:138
HP:0000708	Atypical behavior	7252	TSHB	ORPHA:90674
HP:0000708	Atypical behavior	3190	HNRNPK	OMIM:616580
HP:0000708	Atypical behavior	347733	TUBB2B	ORPHA:300573
HP:0000708	Atypical behavior	347733	TUBB2B	ORPHA:467166
HP:0000708	Atypical behavior	412	STS	ORPHA:281090
HP:0000708	Atypical behavior	412	STS	ORPHA:461
HP:0000708	Atypical behavior	1009	CDH11	OMIM:619736
HP:0000708	Atypical behavior	3973	LHCGR	ORPHA:3000
HP:0000708	Atypical behavior	2626	GATA4	ORPHA:251071
HP:0000708	Atypical behavior	10528	NOP56	ORPHA:276198
HP:0000708	Atypical behavior	2746	GLUD1	ORPHA:35878
HP:0000708	Atypical behavior	30011	SH3KBP1	OMIM:300310
HP:0000708	Atypical behavior	7025	NR2F1	ORPHA:401777
HP:0000708	Atypical behavior	55719	SLF2	OMIM:620184
HP:0000708	Atypical behavior	8517	IKBKG	ORPHA:464
HP:0000708	Atypical behavior	2312	FLG	ORPHA:461
HP:0000708	Atypical behavior	55120	FANCL	OMIM:614083
HP:0000708	Atypical behavior	9922	IQSEC1	OMIM:618687
HP:0000708	Atypical behavior	9928	KIF14	OMIM:617914
HP:0000708	Atypical behavior	2776	GNAQ	ORPHA:3205
HP:0000708	Atypical behavior	2245	FGD1	ORPHA:915
HP:0000708	Atypical behavior	2245	FGD1	OMIM:305400
HP:0000708	Atypical behavior	63895	PIEZO2	ORPHA:2461
HP:0000708	Atypical behavior	3720	JARID2	OMIM:620098
HP:0000708	Atypical behavior	6909	TBX2	OMIM:618223
HP:0000708	Atypical behavior	11151	CORO1A	OMIM:615401
HP:0000708	Atypical behavior	7846	TUBA1A	ORPHA:467166
HP:0000708	Atypical behavior	5582	PRKCG	OMIM:605361
HP:0000708	Atypical behavior	7703	PCGF2	OMIM:618371
HP:0000708	Atypical behavior	6907	TBL1X	OMIM:301033
HP:0000708	Atypical behavior	79576	NKAP	OMIM:301039
HP:0000708	Atypical behavior	121278	TPH2	OMIM:613003
HP:0000708	Atypical behavior	51729	WBP11	OMIM:619227
HP:0000708	Atypical behavior	55186	SLC25A36	OMIM:620211
HP:0000708	Atypical behavior	2313	FLI1	ORPHA:2308
HP:0000708	Atypical behavior	4659	PPP1R12A	OMIM:618820
HP:0000708	Atypical behavior	2177	FANCD2	OMIM:227646
HP:0000708	Atypical behavior	5116	PCNT	ORPHA:2637
HP:0000708	Atypical behavior	129285	PPP1R21	OMIM:619383
HP:0000708	Atypical behavior	55553	SOX6	OMIM:618971
HP:0000708	Atypical behavior	64682	ANAPC1	ORPHA:221008
HP:0000708	Atypical behavior	10137	RBM12	OMIM:617629
HP:0000708	Atypical behavior	488	ATP2A2	OMIM:124200
HP:0000708	Atypical behavior	131118	DNAJC19	ORPHA:66634
HP:0000708	Atypical behavior	5339	PLEC	ORPHA:257
HP:0000708	Atypical behavior	1540	CYLD	OMIM:619132
HP:0000708	Atypical behavior	9719	ADAMTSL2	ORPHA:1901
HP:0000708	Atypical behavior	9509	ADAMTS2	ORPHA:1901
HP:0000708	Atypical behavior	71	ACTG1	ORPHA:2995
HP:0000708	Atypical behavior	60	ACTB	ORPHA:2995
HP:0000708	Atypical behavior	54539	NDUFB11	ORPHA:2556
HP:0000708	Atypical behavior	1349	COX7B	ORPHA:2556
HP:0000708	Atypical behavior	3052	HCCS	ORPHA:2556
HP:0000708	Atypical behavior	150468	CKAP2L	ORPHA:3255
HP:0000708	Atypical behavior	1278	COL1A2	ORPHA:1899
HP:0000708	Atypical behavior	1277	COL1A1	ORPHA:1899
HP:0000708	Atypical behavior	2263	FGFR2	ORPHA:794
HP:0000708	Atypical behavior	2263	FGFR2	OMIM:123500
HP:0000708	Atypical behavior	54892	NCAPG2	OMIM:618460
HP:0000708	Atypical behavior	26005	C2CD3	ORPHA:434179
HP:0000708	Atypical behavior	27125	AFF4	OMIM:616368
HP:0000708	Atypical behavior	27125	AFF4	ORPHA:444077
HP:0000708	Atypical behavior	4720	NDUFS2	OMIM:618228
HP:0000708	Atypical behavior	411	ARSB	OMIM:253200
HP:0000708	Atypical behavior	91942	NDUFAF2	OMIM:618233
HP:0000708	Atypical behavior	2934	GSN	ORPHA:85448
HP:0000708	Atypical behavior	65993	MRPS34	OMIM:617664
HP:0000708	Atypical behavior	9702	CEP57	OMIM:614114
HP:0000708	Atypical behavior	8292	COLQ	ORPHA:98915
HP:0000708	Atypical behavior	3913	LAMB2	ORPHA:98915
HP:0000708	Atypical behavior	7259	TSPYL1	ORPHA:168593
HP:0000708	Atypical behavior	10020	GNE	OMIM:269921
HP:0000708	Atypical behavior	10020	GNE	ORPHA:3166
HP:0000708	Atypical behavior	738	VPS51	OMIM:618606
HP:0000708	Atypical behavior	54681	P4HTM	OMIM:618493
HP:0000708	Atypical behavior	860	RUNX2	ORPHA:1452
HP:0000708	Atypical behavior	4054	LTBP3	OMIM:617809
HP:0000708	Atypical behavior	55768	NGLY1	OMIM:615273
HP:0000708	Atypical behavior	57003	CCDC47	OMIM:618268
HP:0000708	Atypical behavior	51604	PIGT	ORPHA:369837
HP:0000708	Atypical behavior	133686	NADK2	ORPHA:431361
HP:0000708	Atypical behavior	2261	FGFR3	ORPHA:15
HP:0000708	Atypical behavior	5631	PRPS1	ORPHA:423479
HP:0000708	Atypical behavior	60482	SLC5A7	ORPHA:98914
HP:0000708	Atypical behavior	1305	COL13A1	ORPHA:98914
HP:0000708	Atypical behavior	1103	CHAT	ORPHA:98914
HP:0000708	Atypical behavior	6843	VAMP1	ORPHA:98914
HP:0000708	Atypical behavior	375790	AGRN	ORPHA:98914
HP:0000708	Atypical behavior	127833	SYT2	ORPHA:98914
HP:0000708	Atypical behavior	6572	SLC18A3	ORPHA:98914
HP:0000708	Atypical behavior	6616	SNAP25	ORPHA:98914
HP:0000708	Atypical behavior	8911	CACNA1I	OMIM:620114
HP:0000708	Atypical behavior	429	ASCL1	ORPHA:99803
HP:0000708	Atypical behavior	8929	PHOX2B	ORPHA:99803
HP:0000708	Atypical behavior	7314	UBB	ORPHA:99772
HP:0000708	Atypical behavior	57822	GRHL3	ORPHA:99772
HP:0000708	Atypical behavior	1893	ECM1	OMIM:247100
HP:0000708	Atypical behavior	3612	IMPA1	OMIM:617323
HP:0000708	Atypical behavior	56978	PRDM8	OMIM:616640
HP:0000708	Atypical behavior	56978	PRDM8	ORPHA:324290
HP:0000708	Atypical behavior	2328	FMO3	ORPHA:468726
HP:0000708	Atypical behavior	9993	DGCR2	OMIM:192430
HP:0000708	Atypical behavior	8220	ESS2	OMIM:192430
HP:0000708	Atypical behavior	8214	DGCR6	OMIM:192430
HP:0000708	Atypical behavior	54487	DGCR8	OMIM:192430
HP:0000708	Atypical behavior	6899	TBX1	OMIM:192430
HP:0000708	Atypical behavior	5498	PPOX	ORPHA:79473
HP:0000708	Atypical behavior	3145	HMBS	ORPHA:79276
HP:0000708	Atypical behavior	1371	CPOX	OMIM:121300
HP:0000708	Atypical behavior	57582	KCNT1	OMIM:615005
HP:0000708	Atypical behavior	1593	CYP27A1	ORPHA:909
HP:0000708	Atypical behavior	51324	SPG21	ORPHA:101001
HP:0000708	Atypical behavior	875	CBS	OMIM:236200
HP:0000708	Atypical behavior	7504	XK	OMIM:300842
HP:0000708	Atypical behavior	1759	DNM1	ORPHA:2382
HP:0000708	Atypical behavior	2562	GABRB3	ORPHA:2382
HP:0000708	Atypical behavior	5602	MAPK10	ORPHA:2382
HP:0000708	Atypical behavior	773	CACNA1A	ORPHA:2382
HP:0000708	Atypical behavior	6323	SCN1A	ORPHA:2382
HP:0000708	Atypical behavior	23316	CUX2	ORPHA:2382
HP:0000708	Atypical behavior	1106	CHD2	ORPHA:2382
HP:0000708	Atypical behavior	6095	RORA	OMIM:618060
HP:0000708	Atypical behavior	51322	WAC	ORPHA:466950
HP:0000708	Atypical behavior	5281	PIGF	OMIM:619356
HP:0000708	Atypical behavior	10059	DNM1L	OMIM:614388
HP:0000708	Atypical behavior	9731	CEP104	OMIM:619988
HP:0000708	Atypical behavior	6844	VAMP2	OMIM:618760
HP:0000708	Atypical behavior	2770	GNAI1	OMIM:619854
HP:0000708	Atypical behavior	774	CACNA1B	OMIM:618497
HP:0000708	Atypical behavior	10659	CELF2	OMIM:619561
HP:0000708	Atypical behavior	3745	KCNB1	OMIM:616056
HP:0000708	Atypical behavior	10472	ZBTB18	OMIM:612337
HP:0000708	Atypical behavior	8905	AP1S2	OMIM:304340
HP:0000708	Atypical behavior	1798	DPAGT1	ORPHA:86309
HP:0000708	Atypical behavior	2783	GNB2	OMIM:619503
HP:0000708	Atypical behavior	80232	WDR26	ORPHA:513456
HP:0000708	Atypical behavior	51362	CDC40	OMIM:619302
HP:0000708	Atypical behavior	4747	NEFL	ORPHA:101085
HP:0000708	Atypical behavior	9927	MFN2	ORPHA:99947
HP:0000708	Atypical behavior	6492	SIM1	ORPHA:398079
HP:0000708	Atypical behavior	27245	AHDC1	ORPHA:412069
HP:0000708	Atypical behavior	27245	AHDC1	OMIM:615829
HP:0000708	Atypical behavior	5332	PLCB4	OMIM:614669
HP:0000708	Atypical behavior	5332	PLCB4	ORPHA:137888
HP:0000708	Atypical behavior	1906	EDN1	ORPHA:137888
HP:0000708	Atypical behavior	2773	GNAI3	ORPHA:137888
HP:0000708	Atypical behavior	2773	GNAI3	OMIM:602483
HP:0000708	Atypical behavior	341208	HEPHL1	OMIM:261990
HP:0000708	Atypical behavior	83550	GPR101	OMIM:300942
HP:0000708	Atypical behavior	25792	CIZ1	ORPHA:420492
HP:0000708	Atypical behavior	6792	CDKL5	ORPHA:3095
HP:0000708	Atypical behavior	22854	NTNG1	ORPHA:3095
HP:0000708	Atypical behavior	9568	GABBR2	ORPHA:3095
HP:0000708	Atypical behavior	4204	MECP2	ORPHA:3095
HP:0000708	Atypical behavior	8243	SMC1A	ORPHA:3095
HP:0000708	Atypical behavior	23111	SPART	ORPHA:101000
HP:0000708	Atypical behavior	84196	USP48	ORPHA:96253
HP:0000708	Atypical behavior	7157	TP53	ORPHA:96253
HP:0000708	Atypical behavior	7157	TP53	ORPHA:1501
HP:0000708	Atypical behavior	9101	USP8	ORPHA:96253
HP:0000708	Atypical behavior	64072	CDH23	ORPHA:96253
HP:0000708	Atypical behavior	2908	NR3C1	ORPHA:96253
HP:0000708	Atypical behavior	673	BRAF	ORPHA:96253
HP:0000708	Atypical behavior	546	ATRX	ORPHA:96253
HP:0000708	Atypical behavior	1813	DRD2	ORPHA:36899
HP:0000708	Atypical behavior	8910	SGCE	ORPHA:36899
HP:0000708	Atypical behavior	8910	SGCE	OMIM:159900
HP:0000708	Atypical behavior	79734	KCTD17	ORPHA:36899
HP:0000708	Atypical behavior	1861	TOR1A	ORPHA:36899
HP:0000708	Atypical behavior	1387	CREBBP	ORPHA:353281
HP:0000708	Atypical behavior	1387	CREBBP	ORPHA:353277
HP:0000708	Atypical behavior	23384	SPECC1L	OMIM:145420
HP:0000708	Atypical behavior	7428	VHL	ORPHA:29072
HP:0000708	Atypical behavior	7428	VHL	ORPHA:276621
HP:0000708	Atypical behavior	1743	DLST	ORPHA:29072
HP:0000708	Atypical behavior	4191	MDH2	ORPHA:29072
HP:0000708	Atypical behavior	5979	RET	ORPHA:29072
HP:0000708	Atypical behavior	5979	RET	ORPHA:276621
HP:0000708	Atypical behavior	6389	SDHA	ORPHA:29072
HP:0000708	Atypical behavior	23095	KIF1B	ORPHA:29072
HP:0000708	Atypical behavior	2271	FH	ORPHA:29072
HP:0000708	Atypical behavior	8402	SLC25A11	ORPHA:29072
HP:0000708	Atypical behavior	54949	SDHAF2	ORPHA:29072
HP:0000708	Atypical behavior	55654	TMEM127	ORPHA:29072
HP:0000708	Atypical behavior	4763	NF1	ORPHA:29072
HP:0000708	Atypical behavior	6391	SDHC	ORPHA:29072
HP:0000708	Atypical behavior	6392	SDHD	ORPHA:29072
HP:0000708	Atypical behavior	6392	SDHD	ORPHA:276621
HP:0000708	Atypical behavior	6390	SDHB	ORPHA:29072
HP:0000708	Atypical behavior	6390	SDHB	ORPHA:276621
HP:0000708	Atypical behavior	4149	MAX	ORPHA:29072
HP:0000708	Atypical behavior	2033	EP300	ORPHA:353284
HP:0000708	Atypical behavior	54832	VPS13C	ORPHA:2828
HP:0000708	Atypical behavior	11315	PARK7	ORPHA:2828
HP:0000708	Atypical behavior	7345	UCHL1	ORPHA:2828
HP:0000708	Atypical behavior	27429	HTRA2	ORPHA:2828
HP:0000708	Atypical behavior	120892	LRRK2	ORPHA:2828
HP:0000708	Atypical behavior	9829	DNAJC6	ORPHA:2828
HP:0000708	Atypical behavior	6622	SNCA	ORPHA:2828
HP:0000708	Atypical behavior	5420	PODXL	ORPHA:2828
HP:0000708	Atypical behavior	65018	PINK1	ORPHA:2828
HP:0000708	Atypical behavior	8867	SYNJ1	ORPHA:2828
HP:0000708	Atypical behavior	5071	PRKN	ORPHA:2828
HP:0000708	Atypical behavior	3781	KCNN2	OMIM:619725
HP:0000708	Atypical behavior	1788	DNMT3A	ORPHA:276621
HP:0000708	Atypical behavior	2034	EPAS1	ORPHA:276621
HP:0000708	Atypical behavior	84133	ZNRF3	ORPHA:1501
HP:0000708	Atypical behavior	5573	PRKAR1A	ORPHA:1501
HP:0000708	Atypical behavior	1499	CTNNB1	ORPHA:1501
HP:0000708	Atypical behavior	1029	CDKN2A	ORPHA:1501
HP:0000708	Atypical behavior	7015	TERT	ORPHA:1501
HP:0000708	Atypical behavior	2990	GUSB	OMIM:253220
HP:0000708	Atypical behavior	3766	KCNJ10	ORPHA:199343
HP:0000708	Atypical behavior	3766	KCNJ10	OMIM:612780
HP:0000708	Atypical behavior	6559	SLC12A3	OMIM:263800
HP:0000708	Atypical behavior	6559	SLC12A3	ORPHA:358
HP:0000708	Atypical behavior	1188	CLCNKB	ORPHA:358
HP:0000708	Atypical behavior	29968	PSAT1	ORPHA:284417
HP:0000708	Atypical behavior	6310	ATXN1	ORPHA:98755
HP:0000708	Atypical behavior	7274	TTPA	OMIM:277460
HP:0000708	Atypical behavior	6608	SMO	OMIM:241800
HP:0000708	Atypical behavior	123263	MTFMT	OMIM:614947
HP:0000708	Atypical behavior	374879	ZNF699	OMIM:619488
HP:0000708	Atypical behavior	6329	SCN4A	ORPHA:99734
HP:0000708	Atypical behavior	6774	STAT3	ORPHA:520
HP:0000708	Atypical behavior	5371	PML	ORPHA:520
HP:0000708	Atypical behavior	5914	RARA	ORPHA:520
HP:0000708	Atypical behavior	359948	IRF2BP2	ORPHA:520
HP:0000708	Atypical behavior	81608	FIP1L1	ORPHA:520
HP:0000708	Atypical behavior	4869	NPM1	ORPHA:520
HP:0000708	Atypical behavior	64859	NABP1	ORPHA:520
HP:0000708	Atypical behavior	6777	STAT5B	ORPHA:520
HP:0000708	Atypical behavior	4926	NUMA1	ORPHA:520
HP:0000708	Atypical behavior	7704	ZBTB16	ORPHA:520
HP:0000708	Atypical behavior	50833	TAS2R16	OMIM:103780
HP:0000708	Atypical behavior	125	ADH1B	OMIM:103780
HP:0000708	Atypical behavior	1407	CRY1	OMIM:614163
HP:0000708	Atypical behavior	8914	TIMELESS	OMIM:620015
HP:0000708	Atypical behavior	54840	APTX	OMIM:208920
HP:0000708	Atypical behavior	55187	VPS13D	OMIM:607317
HP:0000708	Atypical behavior	4884	NPTX1	OMIM:620158
HP:0000708	Atypical behavior	153	ADRB1	OMIM:618591
HP:0000708	Atypical behavior	1725	DHPS	OMIM:618480
HP:0000708	Atypical behavior	8812	CCNK	OMIM:618147
HP:0000708	Atypical behavior	57680	CHD8	OMIM:615032
HP:0000708	Atypical behavior	51126	NAA20	OMIM:619717
HP:0000708	Atypical behavior	118987	PDZD8	OMIM:620021
HP:0000708	Atypical behavior	2898	GRIK2	OMIM:619580
HP:0000708	Atypical behavior	5575	PRKAR1B	OMIM:619680
HP:0000708	Atypical behavior	1457	CSNK2A1	OMIM:617062
HP:0000708	Atypical behavior	122553	TRAPPC6B	OMIM:617862
HP:0000708	Atypical behavior	80816	ASXL3	OMIM:615485
HP:0000708	Atypical behavior	80816	ASXL3	ORPHA:352577
HP:0000708	Atypical behavior	57520	HECW2	OMIM:617268
HP:0000708	Atypical behavior	53335	BCL11A	OMIM:617101
HP:0000708	Atypical behavior	51111	KMT5B	OMIM:617788
HP:0000708	Atypical behavior	4858	NOVA2	OMIM:618859
HP:0000708	Atypical behavior	23097	CDK19	OMIM:618916
HP:0000708	Atypical behavior	259232	NALCN	ORPHA:371364
HP:0000708	Atypical behavior	285175	UNC80	ORPHA:371364
HP:0000708	Atypical behavior	10479	SLC9A6	ORPHA:85278
HP:0000708	Atypical behavior	3188	HNRNPH2	OMIM:300986
HP:0000708	Atypical behavior	283489	CHAMP1	OMIM:616579
HP:0000708	Atypical behavior	6595	SMARCA2	OMIM:619293
HP:0000708	Atypical behavior	83479	DDX59	OMIM:174300
HP:0000708	Atypical behavior	6804	STX1A	ORPHA:904
HP:0000708	Atypical behavior	7461	CLIP2	ORPHA:904
HP:0000708	Atypical behavior	84277	DNAJC30	ORPHA:904
HP:0000708	Atypical behavior	8468	FKBP6	ORPHA:904
HP:0000708	Atypical behavior	5982	RFC2	ORPHA:904
HP:0000708	Atypical behavior	2969	GTF2I	ORPHA:904
HP:0000708	Atypical behavior	3984	LIMK1	ORPHA:904
HP:0000708	Atypical behavior	9569	GTF2IRD1	ORPHA:904
HP:0000708	Atypical behavior	155382	VPS37D	ORPHA:904
HP:0000708	Atypical behavior	155368	METTL27	ORPHA:904
HP:0000708	Atypical behavior	114049	BUD23	ORPHA:904
HP:0000708	Atypical behavior	7458	EIF4H	ORPHA:904
HP:0000708	Atypical behavior	84163	GTF2IRD2	ORPHA:904
HP:0000708	Atypical behavior	9275	BCL7B	ORPHA:904
HP:0000708	Atypical behavior	26608	TBL2	ORPHA:904
HP:0000708	Atypical behavior	653361	NCF1	ORPHA:904
HP:0000708	Atypical behavior	135886	TMEM270	ORPHA:904
HP:0000708	Atypical behavior	51085	MLXIPL	ORPHA:904
HP:0000708	Atypical behavior	9031	BAZ1B	ORPHA:904
HP:0000708	Atypical behavior	2006	ELN	ORPHA:904
HP:0000708	Atypical behavior	5283	PIGH	OMIM:618010
HP:0000708	Atypical behavior	613	BCR	ORPHA:261330
HP:0000708	Atypical behavior	1399	CRKL	ORPHA:261330
HP:0000708	Atypical behavior	5594	MAPK1	ORPHA:261330
HP:0000708	Atypical behavior	80347	COASY	OMIM:615643
HP:0000708	Atypical behavior	22995	CEP152	OMIM:614852
HP:0000708	Atypical behavior	139411	PTCHD1	OMIM:300830
HP:0000708	Atypical behavior	5155	PDGFB	OMIM:615483
HP:0000708	Atypical behavior	2782	GNB1	OMIM:616973
HP:0000708	Atypical behavior	132158	GLYCTK	OMIM:220120
HP:0000708	Atypical behavior	2290	FOXG1	OMIM:613454
HP:0000708	Atypical behavior	81839	VANGL1	ORPHA:3027
HP:0000708	Atypical behavior	79783	SUGCT	ORPHA:35706
HP:0000708	Atypical behavior	64601	VPS16	OMIM:619291
HP:0000708	Atypical behavior	4128	MAOA	OMIM:300615
HP:0000708	Atypical behavior	339453	TMEM240	OMIM:607454
HP:0000708	Atypical behavior	54880	BCOR	ORPHA:568
HP:0000708	Atypical behavior	51185	CRBN	OMIM:607417
HP:0000708	Atypical behavior	3735	KARS1	OMIM:613641
HP:0000708	Atypical behavior	3251	HPRT1	OMIM:300322
HP:0000708	Atypical behavior	79633	FAT4	ORPHA:314679
HP:0000708	Atypical behavior	8642	DCHS1	ORPHA:314679
HP:0000708	Atypical behavior	26154	ABCA12	ORPHA:457
HP:0000708	Atypical behavior	23590	PDSS1	OMIM:614651
HP:0000708	Atypical behavior	147409	DSG4	ORPHA:573
HP:0000708	Atypical behavior	3892	KRT86	ORPHA:573
HP:0000708	Atypical behavior	3889	KRT83	ORPHA:573
HP:0000708	Atypical behavior	3887	KRT81	ORPHA:573
HP:0000708	Atypical behavior	847	CAT	ORPHA:926
HP:0000708	Atypical behavior	4556	MT-TE	ORPHA:2596
HP:0000708	Atypical behavior	8996	NOL3	OMIM:614937
HP:0000708	Atypical behavior	50506	DUOX2	ORPHA:226316
HP:0000708	Atypical behavior	7849	PAX8	ORPHA:95713
HP:0000708	Atypical behavior	7849	PAX8	ORPHA:95712
HP:0000708	Atypical behavior	1482	NKX2-5	ORPHA:95713
HP:0000708	Atypical behavior	1482	NKX2-5	ORPHA:95712
HP:0000708	Atypical behavior	2304	FOXE1	ORPHA:95713
HP:0000708	Atypical behavior	5172	SLC26A4	ORPHA:95713
HP:0000708	Atypical behavior	51567	TDP2	OMIM:616949
HP:0012583	Unilateral renal hypoplasia	5361	PLXNA1	OMIM:619955
HP:0012583	Unilateral renal hypoplasia	26005	C2CD3	OMIM:615948
HP:0012583	Unilateral renal hypoplasia	8367	H4C5	OMIM:619950
HP:0012583	Unilateral renal hypoplasia	4174	MCM5	OMIM:617564
HP:0012583	Unilateral renal hypoplasia	3265	HRAS	ORPHA:2874
HP:0012584	Bilateral renal hypoplasia	22827	PUF60	ORPHA:508488
HP:0012584	Bilateral renal hypoplasia	1063	CENPF	OMIM:243605
HP:0012584	Bilateral renal hypoplasia	374879	ZNF699	OMIM:619488
HP:0012584	Bilateral renal hypoplasia	7468	NSD2	OMIM:619695
HP:0012585	Renal atrophy	4582	MUC1	OMIM:174000
HP:0012585	Renal atrophy	57178	ZMIZ1	OMIM:618659
HP:0012585	Renal atrophy	51473	DCDC2	ORPHA:84081
HP:0012585	Renal atrophy	91147	TMEM67	ORPHA:84081
HP:0012585	Renal atrophy	5081	PAX7	OMIM:618578
HP:0012585	Renal atrophy	29880	ALG5	OMIM:620056
HP:0012585	Renal atrophy	9935	MAFB	OMIM:166300
HP:0012586	Bilateral renal atrophy	9935	MAFB	OMIM:166300
HP:0012587	Macroscopic hematuria	975	CD81	OMIM:613496
HP:0012587	Macroscopic hematuria	2157	F8	ORPHA:169802
HP:0012587	Macroscopic hematuria	3674	ITGA2B	ORPHA:849
HP:0012587	Macroscopic hematuria	3690	ITGB3	ORPHA:849
HP:0012587	Macroscopic hematuria	2811	GP1BA	ORPHA:274
HP:0012587	Macroscopic hematuria	2812	GP1BB	ORPHA:274
HP:0012587	Macroscopic hematuria	2815	GP9	ORPHA:274
HP:0012587	Macroscopic hematuria	3251	HPRT1	ORPHA:79233
HP:0012587	Macroscopic hematuria	353	APRT	ORPHA:976
HP:0012588	Steroid-resistant nephrotic syndrome	55243	KIRREL1	OMIM:619201
HP:0012588	Steroid-resistant nephrotic syndrome	23279	NUP160	OMIM:618178
HP:0012588	Steroid-resistant nephrotic syndrome	79934	COQ8B	OMIM:615573
HP:0012588	Steroid-resistant nephrotic syndrome	23500	DAAM2	OMIM:619263
HP:0012588	Steroid-resistant nephrotic syndrome	8879	SGPL1	OMIM:617575
HP:0012588	Steroid-resistant nephrotic syndrome	23165	NUP205	OMIM:616893
HP:0012588	Steroid-resistant nephrotic syndrome	54885	TBC1D8B	OMIM:301028
HP:0012588	Steroid-resistant nephrotic syndrome	51004	COQ6	OMIM:614650
HP:0012588	Steroid-resistant nephrotic syndrome	9688	NUP93	OMIM:616892
HP:0012588	Steroid-resistant nephrotic syndrome	79902	NUP85	OMIM:618176
HP:0012588	Steroid-resistant nephrotic syndrome	10677	AVIL	OMIM:618594
HP:0012588	Steroid-resistant nephrotic syndrome	286204	CRB2	OMIM:616220
HP:0012588	Steroid-resistant nephrotic syndrome	55746	NUP133	OMIM:618177
HP:0012588	Steroid-resistant nephrotic syndrome	2013	EMP2	OMIM:615861
HP:0012588	Steroid-resistant nephrotic syndrome	51002	TPRKB	OMIM:617731
HP:0012588	Steroid-resistant nephrotic syndrome	3911	LAMA5	OMIM:620049
HP:0012588	Steroid-resistant nephrotic syndrome	9863	MAGI2	OMIM:617609
HP:0012582	Bilateral renal dysplasia	374879	ZNF699	OMIM:619488
HP:0012582	Bilateral renal dysplasia	6651	SON	ORPHA:500150
HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0002370	Poor coordination	5138	PDE2A	OMIM:619150
HP:0002370	Poor coordination	3752	KCND3	ORPHA:98772
HP:0002370	Poor coordination	64324	NSD1	OMIM:117550
HP:0002370	Poor coordination	64324	NSD1	ORPHA:821
HP:0002370	Poor coordination	2334	AFF2	OMIM:309548
HP:0002370	Poor coordination	55773	TBC1D23	OMIM:617695
HP:0002370	Poor coordination	8831	SYNGAP1	ORPHA:544254
HP:0002370	Poor coordination	123606	NIPA1	ORPHA:261183
HP:0002370	Poor coordination	7283	TUBG1	ORPHA:261183
HP:0002370	Poor coordination	81614	NIPA2	ORPHA:261183
HP:0002370	Poor coordination	1387	CREBBP	OMIM:180849
HP:0002370	Poor coordination	2033	EP300	OMIM:180849
HP:0002370	Poor coordination	51126	NAA20	OMIM:619717
HP:0002370	Poor coordination	54585	LZTFL1	OMIM:615994
HP:0002370	Poor coordination	84100	ARL6	OMIM:209900
HP:0002370	Poor coordination	79140	CCDC28B	OMIM:209900
HP:0002370	Poor coordination	582	BBS1	OMIM:209900
HP:0002370	Poor coordination	2072	ERCC4	OMIM:610965
HP:0002370	Poor coordination	10079	ATP9A	OMIM:620242
HP:0002370	Poor coordination	29072	SETD2	ORPHA:821
HP:0002370	Poor coordination	10297	APC2	ORPHA:821
HP:0002370	Poor coordination	8726	EED	OMIM:617561
HP:0002370	Poor coordination	9578	CDC42BPB	OMIM:619841
HP:0002370	Poor coordination	25828	TXN2	ORPHA:478029
HP:0002370	Poor coordination	833	CARS1	OMIM:618891
HP:0002370	Poor coordination	6942	TCF20	OMIM:618430
HP:0002370	Poor coordination	6492	SIM1	ORPHA:171829
HP:0002370	Poor coordination	7532	YWHAG	OMIM:617665
HP:0002370	Poor coordination	128989	TANGO2	OMIM:616878
HP:0002370	Poor coordination	3736	KCNA1	ORPHA:37612
HP:0002370	Poor coordination	4548	MTR	OMIM:250940
HP:0002370	Poor coordination	51085	MLXIPL	OMIM:194050
HP:0002370	Poor coordination	2006	ELN	OMIM:194050
HP:0002370	Poor coordination	10166	SLC25A15	ORPHA:415
HP:0002370	Poor coordination	10166	SLC25A15	OMIM:238970
HP:0002370	Poor coordination	10075	HUWE1	OMIM:309590
HP:0002370	Poor coordination	3028	HSD17B10	ORPHA:391428
HP:0002370	Poor coordination	6535	SLC6A8	OMIM:300352
HP:0002370	Poor coordination	165918	RNF168	ORPHA:420741
HP:0002371	Loss of speech	410	ARSA	ORPHA:309271
HP:0002371	Loss of speech	410	ARSA	ORPHA:309256
HP:0002371	Loss of speech	410	ARSA	ORPHA:309263
HP:0002371	Loss of speech	410	ARSA	OMIM:250100
HP:0002371	Loss of speech	5660	PSAP	ORPHA:309271
HP:0002371	Loss of speech	5660	PSAP	ORPHA:309256
HP:0002371	Loss of speech	5660	PSAP	OMIM:249900
HP:0002371	Loss of speech	5660	PSAP	ORPHA:309263
HP:0002371	Loss of speech	25978	CHMP2B	OMIM:600795
HP:0002371	Loss of speech	25978	CHMP2B	ORPHA:275864
HP:0002371	Loss of speech	10577	NPC2	OMIM:607625
HP:0002371	Loss of speech	55739	NAXD	OMIM:618321
HP:0002371	Loss of speech	103	ADAR	OMIM:615010
HP:0002371	Loss of speech	103	ADAR	ORPHA:51
HP:0002371	Loss of speech	64207	IRF2BPL	OMIM:618088
HP:0002371	Loss of speech	5538	PPT1	OMIM:256730
HP:0002371	Loss of speech	1757	SARDH	ORPHA:3129
HP:0002371	Loss of speech	138050	HGSNAT	OMIM:252930
HP:0002371	Loss of speech	2055	CLN8	ORPHA:1947
HP:0002371	Loss of speech	4864	NPC1	OMIM:257220
HP:0002371	Loss of speech	57679	ALS2	ORPHA:247604
HP:0002371	Loss of speech	11160	ERLIN2	ORPHA:247604
HP:0002371	Loss of speech	80704	SLC19A3	OMIM:607483
HP:0002371	Loss of speech	4125	MAN2B1	ORPHA:309282
HP:0002371	Loss of speech	5832	ALDH18A1	ORPHA:447760
HP:0002371	Loss of speech	6792	CDKL5	ORPHA:3095
HP:0002371	Loss of speech	22854	NTNG1	ORPHA:3095
HP:0002371	Loss of speech	9568	GABBR2	ORPHA:3095
HP:0002371	Loss of speech	4204	MECP2	ORPHA:3095
HP:0002371	Loss of speech	8243	SMC1A	ORPHA:3095
HP:0002371	Loss of speech	2581	GALC	ORPHA:206443
HP:0002371	Loss of speech	2581	GALC	ORPHA:206448
HP:0002371	Loss of speech	215	ABCD1	OMIM:300100
HP:0002371	Loss of speech	6687	SPG7	ORPHA:35689
HP:0002371	Loss of speech	2760	GM2A	ORPHA:309246
HP:0002371	Loss of speech	2760	GM2A	OMIM:272750
HP:0002371	Loss of speech	5663	PSEN1	ORPHA:275864
HP:0002371	Loss of speech	2896	GRN	ORPHA:275864
HP:0002371	Loss of speech	54664	TMEM106B	ORPHA:275864
HP:0002371	Loss of speech	8878	SQSTM1	ORPHA:275864
HP:0002371	Loss of speech	4137	MAPT	ORPHA:275864
HP:0002371	Loss of speech	54209	TREM2	ORPHA:275864
HP:0002371	Loss of speech	7415	VCP	ORPHA:275864
HP:0002371	Loss of speech	57505	AARS2	OMIM:615889
HP:0002371	Loss of speech	27010	TPK1	OMIM:614458
HP:0002371	Loss of speech	2903	GRIN2A	ORPHA:98818
HP:0002371	Loss of speech	26580	BSCL2	OMIM:615924
HP:0002371	Loss of speech	10535	RNASEH2A	ORPHA:51
HP:0002371	Loss of speech	84153	RNASEH2C	ORPHA:51
HP:0002371	Loss of speech	25939	SAMHD1	ORPHA:51
HP:0002371	Loss of speech	79621	RNASEH2B	ORPHA:51
HP:0002371	Loss of speech	11277	TREX1	ORPHA:51
HP:0002371	Loss of speech	100147744	RNU7-1	ORPHA:51
HP:0002371	Loss of speech	134353	LSM11	ORPHA:51
HP:0002371	Loss of speech	64135	IFIH1	ORPHA:51
HP:0002372	Normal interictal EEG	6326	SCN2A	OMIM:607745
HP:0002372	Normal interictal EEG	6326	SCN2A	ORPHA:306
HP:0002372	Normal interictal EEG	5138	PDE2A	ORPHA:31709
HP:0002372	Normal interictal EEG	6334	SCN8A	ORPHA:31709
HP:0002372	Normal interictal EEG	6334	SCN8A	ORPHA:306
HP:0002372	Normal interictal EEG	112476	PRRT2	ORPHA:31709
HP:0002372	Normal interictal EEG	112476	PRRT2	ORPHA:306
HP:0002372	Normal interictal EEG	112476	PRRT2	OMIM:602066
HP:0002372	Normal interictal EEG	3785	KCNQ2	ORPHA:306
HP:0002372	Normal interictal EEG	3786	KCNQ3	ORPHA:306
HP:0002374	Diminished movement	339453	TMEM240	ORPHA:98773
HP:0002374	Diminished movement	339453	TMEM240	OMIM:607454
HP:0002374	Diminished movement	11152	WDR45	OMIM:300894
HP:0002374	Diminished movement	1798	DPAGT1	ORPHA:86309
HP:0002374	Diminished movement	1272	CNTN1	OMIM:612540
HP:0002374	Diminished movement	55737	VPS35	OMIM:614203
HP:0002374	Diminished movement	55737	VPS35	ORPHA:411602
HP:0002374	Diminished movement	1861	TOR1A	OMIM:618947
HP:0002374	Diminished movement	54832	VPS13C	OMIM:616840
HP:0002374	Diminished movement	51079	NDUFA13	OMIM:618249
HP:0002374	Diminished movement	8087	FXR1	OMIM:618822
HP:0002374	Diminished movement	23317	DNAJC13	ORPHA:411602
HP:0002374	Diminished movement	1981	EIF4G1	ORPHA:411602
HP:0002374	Diminished movement	120892	LRRK2	ORPHA:411602
HP:0002374	Diminished movement	26058	GIGYF2	ORPHA:411602
HP:0002374	Diminished movement	4929	NR4A2	OMIM:619911
HP:0002374	Diminished movement	2259	FGF14	ORPHA:98764
HP:0002374	Diminished movement	80025	PANK2	OMIM:234200
HP:0002374	Diminished movement	9829	DNAJC6	ORPHA:391411
HP:0002374	Diminished movement	5420	PODXL	ORPHA:391411
HP:0002374	Diminished movement	8867	SYNJ1	ORPHA:391411
HP:0002374	Diminished movement	3735	KARS1	OMIM:619147
HP:0002374	Diminished movement	55640	FLVCR2	OMIM:225790
HP:0002374	Diminished movement	1356	CP	ORPHA:48818
HP:0002374	Diminished movement	1146	CHRNG	OMIM:253290
HP:0002374	Diminished movement	1144	CHRND	OMIM:253290
HP:0002374	Diminished movement	1134	CHRNA1	OMIM:253290
HP:0002374	Diminished movement	2065	ERBB3	OMIM:607598
HP:0002374	Diminished movement	1639	DCTN1	OMIM:168605
HP:0002374	Diminished movement	4137	MAPT	ORPHA:240103
HP:0002374	Diminished movement	1644	DDC	OMIM:608643
HP:0002374	Diminished movement	9131	AIFM1	ORPHA:238329
HP:0002374	Diminished movement	9131	AIFM1	OMIM:300816
HP:0002374	Diminished movement	291	SLC25A4	ORPHA:254892
HP:0002374	Diminished movement	5428	POLG	ORPHA:254892
HP:0002374	Diminished movement	56652	TWNK	ORPHA:254892
HP:0002374	Diminished movement	11232	POLG2	ORPHA:254892
HP:0002374	Diminished movement	50484	RRM2B	ORPHA:254892
HP:0002374	Diminished movement	4927	NUP88	ORPHA:994
HP:0002374	Diminished movement	7846	TUBA1A	ORPHA:994
HP:0002374	Diminished movement	4654	MYOD1	ORPHA:994
HP:0002374	Diminished movement	4593	MUSK	ORPHA:994
HP:0002374	Diminished movement	5913	RAPSN	ORPHA:994
HP:0002374	Diminished movement	6572	SLC18A3	ORPHA:994
HP:0002374	Diminished movement	285489	DOK7	ORPHA:994
HP:0002374	Diminished movement	3064	HTT	ORPHA:399
HP:0002374	Diminished movement	6515	SLC2A3	ORPHA:399
HP:0002374	Diminished movement	4359	MPZ	OMIM:618184
HP:0002374	Diminished movement	7054	TH	OMIM:605407
HP:0002374	Diminished movement	7054	TH	ORPHA:101150
HP:0002374	Diminished movement	3920	LAMP2	OMIM:300257
HP:0002374	Diminished movement	23732	FRRS1L	OMIM:616981
HP:0002374	Diminished movement	23516	SLC39A14	OMIM:617013
HP:0002374	Diminished movement	1213	CLTC	OMIM:617854
HP:0002374	Diminished movement	8622	PDE8B	OMIM:609161
HP:0002374	Diminished movement	85476	GFM1	OMIM:609060
HP:0002374	Diminished movement	203190	LGI3	OMIM:620007
HP:0002374	Diminished movement	9256	TSPOAP1	ORPHA:101150
HP:0002374	Diminished movement	4534	MTM1	OMIM:310400
HP:0002374	Diminished movement	2629	GBA1	OMIM:608013
HP:0002374	Diminished movement	79581	SLC52A2	OMIM:614707
HP:0002374	Diminished movement	23400	ATP13A2	OMIM:606693
HP:0002374	Diminished movement	100303755	PET117	OMIM:619063
HP:0002374	Diminished movement	5521	PPP2R2B	ORPHA:98762
HP:0002374	Diminished movement	6531	SLC6A3	ORPHA:238455
HP:0002374	Diminished movement	58	ACTA1	ORPHA:171436
HP:0002374	Diminished movement	58	ACTA1	ORPHA:171433
HP:0002374	Diminished movement	58	ACTA1	ORPHA:171430
HP:0002374	Diminished movement	7169	TPM2	ORPHA:171436
HP:0002374	Diminished movement	4703	NEB	ORPHA:171436
HP:0002374	Diminished movement	4703	NEB	ORPHA:171433
HP:0002374	Diminished movement	4703	NEB	ORPHA:171430
HP:0002374	Diminished movement	10324	KLHL41	ORPHA:171436
HP:0002374	Diminished movement	10324	KLHL41	ORPHA:171433
HP:0002374	Diminished movement	10324	KLHL41	ORPHA:171430
HP:0002374	Diminished movement	56203	LMOD3	ORPHA:171436
HP:0002374	Diminished movement	56203	LMOD3	ORPHA:171430
HP:0002374	Diminished movement	1073	CFL2	ORPHA:171436
HP:0002374	Diminished movement	8818	DPM2	OMIM:615042
HP:0002374	Diminished movement	440138	ALG11	ORPHA:280071
HP:0002374	Diminished movement	7170	TPM3	ORPHA:171433
HP:0002374	Diminished movement	5621	PRNP	ORPHA:157941
HP:0002374	Diminished movement	51741	WWOX	OMIM:616211
HP:0002374	Diminished movement	131377	KLHL40	ORPHA:171430
HP:0002374	Diminished movement	51025	PAM16	OMIM:613320
HP:0002374	Diminished movement	2741	GLRA1	OMIM:149400
HP:0002374	Diminished movement	10243	GPHN	OMIM:149400
HP:0002374	Diminished movement	51021	MRPS16	OMIM:610498
HP:0002374	Diminished movement	6622	SNCA	OMIM:168601
HP:0002374	Diminished movement	540	ATP7B	OMIM:277900
HP:0002374	Diminished movement	3908	LAMA2	ORPHA:258
HP:0002378	Hand tremor	11160	ERLIN2	ORPHA:280384
HP:0002378	Hand tremor	11160	ERLIN2	ORPHA:209951
HP:0002378	Hand tremor	388662	SLC6A17	ORPHA:457212
HP:0002378	Hand tremor	1861	TOR1A	OMIM:618947
HP:0002378	Hand tremor	6606	SMN1	OMIM:271150
HP:0002378	Hand tremor	6606	SMN1	OMIM:253400
HP:0002378	Hand tremor	6606	SMN1	OMIM:253550
HP:0002378	Hand tremor	5165	PDK3	OMIM:300905
HP:0002378	Hand tremor	5165	PDK3	ORPHA:352675
HP:0002378	Hand tremor	7253	TSHR	ORPHA:99819
HP:0002378	Hand tremor	7253	TSHR	ORPHA:424
HP:0002378	Hand tremor	4803	NGF	OMIM:608654
HP:0002378	Hand tremor	6607	SMN2	OMIM:253400
HP:0002378	Hand tremor	6872	TAF1	ORPHA:53351
HP:0002378	Hand tremor	2259	FGF14	ORPHA:98764
HP:0002378	Hand tremor	151	ADRA2B	ORPHA:86814
HP:0002378	Hand tremor	55689	YEATS2	ORPHA:86814
HP:0002378	Hand tremor	1501	CTNND2	ORPHA:86814
HP:0002378	Hand tremor	10299	MARCHF6	ORPHA:86814
HP:0002378	Hand tremor	6900	CNTN2	ORPHA:86814
HP:0002378	Hand tremor	401474	SAMD12	ORPHA:86814
HP:0002378	Hand tremor	5375	PMP2	OMIM:618279
HP:0002378	Hand tremor	122553	TRAPPC6B	OMIM:617862
HP:0002378	Hand tremor	5155	PDGFB	OMIM:615483
HP:0002378	Hand tremor	23261	CAMTA1	OMIM:614756
HP:0002378	Hand tremor	57505	AARS2	OMIM:615889
HP:0002378	Hand tremor	3781	KCNN2	OMIM:619724
HP:0002378	Hand tremor	10342	TFG	OMIM:604484
HP:0002378	Hand tremor	7443	VRK1	OMIM:607596
HP:0002378	Hand tremor	540	ATP7B	OMIM:277900
HP:0002378	Hand tremor	2645	GCK	ORPHA:79299
HP:0002378	Hand tremor	63982	ANO3	ORPHA:420485
HP:0002378	Hand tremor	25782	RAB3GAP2	ORPHA:401830
HP:0002378	Hand tremor	10558	SPTLC1	OMIM:162400
HP:0002378	Hand tremor	4141	MARS1	ORPHA:401835
HP:0002378	Hand tremor	10273	STUB1	ORPHA:412057
HP:0002378	Hand tremor	57704	GBA2	OMIM:614409
HP:0002378	Hand tremor	51663	ZFR	ORPHA:401840
HP:0002378	Hand tremor	5428	POLG	OMIM:157640
HP:0002378	Hand tremor	55023	PHIP	ORPHA:589905
HP:0002378	Hand tremor	1814	DRD3	OMIM:190300
HP:0002378	Hand tremor	23503	ZFYVE26	ORPHA:100996
HP:0002378	Hand tremor	2705	GJB1	OMIM:302800
HP:0002378	Hand tremor	10058	ABCB6	OMIM:609153
HP:0002378	Hand tremor	8398	PLA2G6	OMIM:612953
HP:0002378	Hand tremor	57465	TBC1D24	OMIM:608105
HP:0002378	Hand tremor	4747	NEFL	ORPHA:101085
HP:0002378	Hand tremor	9927	MFN2	ORPHA:99947
HP:0002378	Hand tremor	10528	NOP56	ORPHA:276198
HP:0012590	Abnormal urine output	83483	PLVAP	OMIM:618183
HP:0012590	Abnormal urine output	10916	MAGED2	OMIM:300971
HP:0012590	Abnormal urine output	261734	NPHP4	OMIM:606996
HP:0012590	Abnormal urine output	261734	NPHP4	OMIM:606966
HP:0012590	Abnormal urine output	1497	CTNS	OMIM:219800
HP:0012590	Abnormal urine output	1187	CLCNKA	OMIM:613090
HP:0012590	Abnormal urine output	1188	CLCNKB	OMIM:613090
HP:0012590	Abnormal urine output	1188	CLCNKB	OMIM:607364
HP:0012590	Abnormal urine output	9071	CLDN10	OMIM:617671
HP:0012590	Abnormal urine output	9365	KL	OMIM:617994
HP:0012590	Abnormal urine output	54757	FAM20A	OMIM:204690
HP:0012590	Abnormal urine output	91147	TMEM67	OMIM:613550
HP:0012590	Abnormal urine output	3766	KCNJ10	OMIM:612780
HP:0012590	Abnormal urine output	6569	SLC34A1	OMIM:616963
HP:0012590	Abnormal urine output	359	AQP2	OMIM:125800
HP:0012590	Abnormal urine output	54585	LZTFL1	OMIM:615994
HP:0012590	Abnormal urine output	3762	KCNJ5	OMIM:613677
HP:0012590	Abnormal urine output	857	CAV1	OMIM:606721
HP:0012590	Abnormal urine output	6557	SLC12A1	OMIM:601678
HP:0012590	Abnormal urine output	7809	BSND	OMIM:602522
HP:0012590	Abnormal urine output	4867	NPHP1	OMIM:266900
HP:0012590	Abnormal urine output	4867	NPHP1	OMIM:256100
HP:0012590	Abnormal urine output	26191	PTPN22	OMIM:222100
HP:0012590	Abnormal urine output	3710	ITPR3	OMIM:222100
HP:0012590	Abnormal urine output	3569	IL6	OMIM:222100
HP:0012590	Abnormal urine output	6927	HNF1A	OMIM:222100
HP:0012590	Abnormal urine output	254428	SLC41A1	OMIM:619468
HP:0012590	Abnormal urine output	6651	SON	OMIM:617140
HP:0012590	Abnormal urine output	554	AVPR2	OMIM:304800
HP:0012590	Abnormal urine output	3758	KCNJ1	OMIM:241200
HP:0012590	Abnormal urine output	1591	CYP24A1	OMIM:143880
HP:0012590	Abnormal urine output	476	ATP1A1	OMIM:618314
HP:0012590	Abnormal urine output	10686	CLDN16	OMIM:248250
HP:0012590	Abnormal urine output	6559	SLC12A3	OMIM:263800
HP:0012590	Abnormal urine output	54938	SARS2	OMIM:613845
HP:0012590	Abnormal urine output	27031	NPHP3	OMIM:604387
HP:0012590	Abnormal urine output	846	CASR	OMIM:239200
HP:0012590	Abnormal urine output	6524	SLC5A2	OMIM:233100
HP:0012590	Abnormal urine output	58528	RRAGD	OMIM:620152
HP:0012590	Abnormal urine output	183	AGT	OMIM:267430
HP:0012590	Abnormal urine output	5972	REN	OMIM:267430
HP:0012590	Abnormal urine output	185	AGTR1	OMIM:267430
HP:0012590	Abnormal urine output	1636	ACE	OMIM:267430
HP:0012590	Abnormal urine output	4629	MYH11	OMIM:619351
HP:0012590	Abnormal urine output	4179	CD46	OMIM:612922
HP:0012590	Abnormal urine output	629	CFB	OMIM:612924
HP:0012590	Abnormal urine output	3426	CFI	OMIM:612923
HP:0012590	Abnormal urine output	7056	THBD	OMIM:612926
HP:0012590	Abnormal urine output	3075	CFH	OMIM:235400
HP:0012590	Abnormal urine output	3078	CFHR1	OMIM:235400
HP:0012590	Abnormal urine output	10878	CFHR3	OMIM:235400
HP:0012590	Abnormal urine output	718	C3	OMIM:612925
HP:0012590	Abnormal urine output	5076	PAX2	ORPHA:97362
HP:0012590	Abnormal urine output	5087	PBX1	ORPHA:97362
HP:0012590	Abnormal urine output	116085	SLC22A12	OMIM:220150
HP:0012590	Abnormal urine output	353	APRT	OMIM:614723
HP:0012590	Abnormal urine output	353	APRT	ORPHA:976
HP:0012590	Abnormal urine output	1235	CCR6	ORPHA:220393
HP:0012590	Abnormal urine output	1490	CCN2	ORPHA:220393
HP:0012590	Abnormal urine output	3663	IRF5	ORPHA:220393
HP:0012590	Abnormal urine output	3123	HLA-DRB1	ORPHA:220393
HP:0012590	Abnormal urine output	23175	LPIN1	ORPHA:99845
HP:0012590	Abnormal urine output	4512	MT-CO1	ORPHA:99845
HP:0012590	Abnormal urine output	4514	MT-CO3	ORPHA:99845
HP:0012590	Abnormal urine output	6261	RYR1	ORPHA:466650
HP:0012590	Abnormal urine output	788	SLC25A20	ORPHA:159
HP:0012590	Abnormal urine output	199221	DZIP1L	ORPHA:731
HP:0012590	Abnormal urine output	5314	PKHD1	ORPHA:731
HP:0012591	Abnormal urinary electrolyte concentration	2778	GNAS	ORPHA:562
HP:0012591	Abnormal urinary electrolyte concentration	5251	PHEX	OMIM:307800
HP:0012591	Abnormal urinary electrolyte concentration	5251	PHEX	ORPHA:89936
HP:0012591	Abnormal urinary electrolyte concentration	3636	INPPL1	OMIM:258480
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:300554
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:300009
HP:0012591	Abnormal urinary electrolyte concentration	1758	DMP1	ORPHA:289176
HP:0012591	Abnormal urinary electrolyte concentration	5167	ENPP1	ORPHA:289176
HP:0012591	Abnormal urinary electrolyte concentration	142680	SLC34A3	OMIM:241530
HP:0012591	Abnormal urinary electrolyte concentration	9368	NHERF1	OMIM:612287
HP:0012591	Abnormal urinary electrolyte concentration	1497	CTNS	ORPHA:411634
HP:0012591	Abnormal urinary electrolyte concentration	8074	FGF23	OMIM:193100
HP:0012591	Abnormal urinary electrolyte concentration	6337	SCNN1A	OMIM:264350
HP:0012591	Abnormal urinary electrolyte concentration	1589	CYP21A2	OMIM:201910
HP:0012591	Abnormal urinary electrolyte concentration	190	NR0B1	OMIM:300200
HP:0012591	Abnormal urinary electrolyte concentration	4582	MUC1	OMIM:174000
HP:0012591	Abnormal urinary electrolyte concentration	3773	KCNJ16	OMIM:619406
HP:0012591	Abnormal urinary electrolyte concentration	54938	SARS2	OMIM:613845
HP:0012591	Abnormal urinary electrolyte concentration	3284	HSD3B2	ORPHA:90791
HP:0012591	Abnormal urinary electrolyte concentration	1584	CYP11B1	ORPHA:90795
HP:0012591	Abnormal urinary electrolyte concentration	9949	AMMECR1	OMIM:300990
HP:0012591	Abnormal urinary electrolyte concentration	51604	PIGT	OMIM:615398
HP:0012591	Abnormal urinary electrolyte concentration	51604	PIGT	ORPHA:369837
HP:0012591	Abnormal urinary electrolyte concentration	3643	INSR	ORPHA:508
HP:0012591	Abnormal urinary electrolyte concentration	6804	STX1A	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	7461	CLIP2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	84277	DNAJC30	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	8468	FKBP6	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	5982	RFC2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2969	GTF2I	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	3984	LIMK1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	9569	GTF2IRD1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	155382	VPS37D	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	155368	METTL27	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	114049	BUD23	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	7458	EIF4H	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	84163	GTF2IRD2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	9275	BCL7B	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	26608	TBL2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	653361	NCF1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	135886	TMEM270	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	51085	MLXIPL	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	51085	MLXIPL	OMIM:194050
HP:0012591	Abnormal urinary electrolyte concentration	9031	BAZ1B	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2006	ELN	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2006	ELN	OMIM:194050
HP:0012591	Abnormal urinary electrolyte concentration	56606	SLC2A9	ORPHA:94088
HP:0012591	Abnormal urinary electrolyte concentration	116085	SLC22A12	ORPHA:94088
HP:0012591	Abnormal urinary electrolyte concentration	55811	ADCY10	OMIM:143870
HP:0012591	Abnormal urinary electrolyte concentration	55811	ADCY10	ORPHA:2197
HP:0012591	Abnormal urinary electrolyte concentration	249	ALPL	OMIM:241500
HP:0012591	Abnormal urinary electrolyte concentration	1027	CDKN1B	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1026	CDKN1A	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1030	CDKN2B	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1031	CDKN2C	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	10916	MAGED2	OMIM:300971
HP:0012591	Abnormal urinary electrolyte concentration	2212	FCGR2A	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	7040	TGFB1	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	1080	CFTR	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	3123	HLA-DRB1	OMIM:181000
HP:0012591	Abnormal urinary electrolyte concentration	3123	HLA-DRB1	ORPHA:797
HP:0012591	Abnormal urinary electrolyte concentration	5286	PIK3C2A	OMIM:618440
HP:0012591	Abnormal urinary electrolyte concentration	3762	KCNJ5	OMIM:613677
HP:0012591	Abnormal urinary electrolyte concentration	3762	KCNJ5	ORPHA:251274
HP:0012591	Abnormal urinary electrolyte concentration	6928	HNF1B	ORPHA:1309
HP:0012591	Abnormal urinary electrolyte concentration	4982	TNFRSF11B	OMIM:239000
HP:0012591	Abnormal urinary electrolyte concentration	50617	ATP6V0A4	OMIM:602722
HP:0012591	Abnormal urinary electrolyte concentration	1591	CYP24A1	OMIM:143880
HP:0012591	Abnormal urinary electrolyte concentration	1028	CDKN1C	OMIM:614732
HP:0012591	Abnormal urinary electrolyte concentration	56244	BTNL2	ORPHA:797
HP:0012591	Abnormal urinary electrolyte concentration	6557	SLC12A1	OMIM:601678
HP:0012591	Abnormal urinary electrolyte concentration	3758	KCNJ1	OMIM:241200
HP:0012591	Abnormal urinary electrolyte concentration	5745	PTH1R	OMIM:156400
HP:0012591	Abnormal urinary electrolyte concentration	229	ALDOB	OMIM:229600
HP:0012591	Abnormal urinary electrolyte concentration	4574	MT-TS1	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	4570	MT-TN	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	6834	SURF1	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	368	ABCC6	ORPHA:51608
HP:0012591	Abnormal urinary electrolyte concentration	3172	HNF4A	OMIM:616026
HP:0012591	Abnormal urinary electrolyte concentration	84334	COA8	ORPHA:436271
HP:0012591	Abnormal urinary electrolyte concentration	4221	MEN1	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	9247	GCM2	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	79577	CDC73	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	3845	KRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	4893	NRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	3265	HRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	4952	OCRL	OMIM:309000
HP:0012591	Abnormal urinary electrolyte concentration	6514	SLC2A2	OMIM:227810
HP:0012591	Abnormal urinary electrolyte concentration	6514	SLC2A2	ORPHA:2088
HP:0012591	Abnormal urinary electrolyte concentration	540	ATP7B	OMIM:277900
HP:0012591	Abnormal urinary electrolyte concentration	1175	AP2S1	OMIM:600740
HP:0012591	Abnormal urinary electrolyte concentration	486	FXYD2	OMIM:154020
HP:0012591	Abnormal urinary electrolyte concentration	9071	CLDN10	OMIM:617671
HP:0012591	Abnormal urinary electrolyte concentration	6559	SLC12A3	OMIM:263800
HP:0012591	Abnormal urinary electrolyte concentration	54757	FAM20A	ORPHA:1031
HP:0012591	Abnormal urinary electrolyte concentration	476	ATP1A1	OMIM:618314
HP:0012591	Abnormal urinary electrolyte concentration	476	ATP1A1	ORPHA:564178
HP:0012591	Abnormal urinary electrolyte concentration	55764	IFT122	OMIM:218330
HP:0012591	Abnormal urinary electrolyte concentration	866	SERPINA6	OMIM:611489
HP:0012591	Abnormal urinary electrolyte concentration	100134444	KCNJ18	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	2556	GABRA3	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	779	CACNA1S	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	51726	DNAJB11	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	23193	GANAB	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	5310	PKD1	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	5311	PKD2	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	29880	ALG5	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	9742	IFT140	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	79796	ALG9	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	80114	BICC1	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	51473	DCDC2	ORPHA:84081
HP:0012591	Abnormal urinary electrolyte concentration	91147	TMEM67	ORPHA:84081
HP:0012591	Abnormal urinary electrolyte concentration	1583	CYP11A1	ORPHA:289548
HP:0012591	Abnormal urinary electrolyte concentration	1583	CYP11A1	ORPHA:168558
HP:0012591	Abnormal urinary electrolyte concentration	56246	MRAP	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	6770	STAR	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	4158	MC2R	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	23530	NNT	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	10587	TXNRD2	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	1187	CLCNKA	OMIM:613090
HP:0012591	Abnormal urinary electrolyte concentration	1188	CLCNKB	OMIM:613090
HP:0012591	Abnormal urinary electrolyte concentration	7809	BSND	OMIM:602522
HP:0012591	Abnormal urinary electrolyte concentration	554	AVPR2	OMIM:300539
HP:0012591	Abnormal urinary electrolyte concentration	3291	HSD11B2	ORPHA:320
HP:0012591	Abnormal urinary electrolyte concentration	3766	KCNJ10	ORPHA:199343
HP:0012591	Abnormal urinary electrolyte concentration	3766	KCNJ10	OMIM:612780
HP:0012591	Abnormal urinary electrolyte concentration	1585	CYP11B2	ORPHA:556030
HP:0012591	Abnormal urinary electrolyte concentration	1962	EHHADH	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	2628	GATM	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	137682	NDUFAF6	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	149461	CLDN19	OMIM:248190
HP:0012591	Abnormal urinary electrolyte concentration	10686	CLDN16	OMIM:248250
HP:0012591	Abnormal urinary electrolyte concentration	2767	GNA11	ORPHA:428
HP:0012591	Abnormal urinary electrolyte concentration	846	CASR	ORPHA:428
HP:0012592	Albuminuria	51726	DNAJB11	ORPHA:730
HP:0012592	Albuminuria	23193	GANAB	ORPHA:730
HP:0012592	Albuminuria	5310	PKD1	ORPHA:730
HP:0012592	Albuminuria	5311	PKD2	ORPHA:730
HP:0012592	Albuminuria	29880	ALG5	ORPHA:730
HP:0012592	Albuminuria	9742	IFT140	ORPHA:730
HP:0012592	Albuminuria	79796	ALG9	ORPHA:730
HP:0012592	Albuminuria	80114	BICC1	ORPHA:730
HP:0012592	Albuminuria	2592	GALT	OMIM:230400
HP:0012592	Albuminuria	8029	CUBN	OMIM:618884
HP:0012592	Albuminuria	5189	PEX1	OMIM:214100
HP:0012592	Albuminuria	2542	SLC37A4	OMIM:619525
HP:0012592	Albuminuria	375056	MIA3	OMIM:619269
HP:0012592	Albuminuria	51124	IER3IP1	OMIM:614231
HP:0012592	Albuminuria	3767	KCNJ11	ORPHA:99885
HP:0012592	Albuminuria	6774	STAT3	ORPHA:99885
HP:0012592	Albuminuria	2645	GCK	ORPHA:99885
HP:0012592	Albuminuria	3651	PDX1	ORPHA:99885
HP:0012592	Albuminuria	6833	ABCC8	ORPHA:99885
HP:0012592	Albuminuria	3630	INS	ORPHA:99885
HP:0012594	Moderate albuminuria	2542	SLC37A4	OMIM:619525
HP:0012594	Moderate albuminuria	375056	MIA3	OMIM:619269
HP:0012594	Moderate albuminuria	51124	IER3IP1	OMIM:614231
HP:0012594	Moderate albuminuria	3767	KCNJ11	ORPHA:99885
HP:0012594	Moderate albuminuria	6774	STAT3	ORPHA:99885
HP:0012594	Moderate albuminuria	2645	GCK	ORPHA:99885
HP:0012594	Moderate albuminuria	3651	PDX1	ORPHA:99885
HP:0012594	Moderate albuminuria	6833	ABCC8	ORPHA:99885
HP:0012594	Moderate albuminuria	3630	INS	ORPHA:99885
HP:0012595	Mild proteinuria	57728	WDR19	OMIM:614377
HP:0012595	Mild proteinuria	55610	VPS50	OMIM:619685
HP:0012595	Mild proteinuria	3735	KARS1	OMIM:619147
HP:0012595	Mild proteinuria	56606	SLC2A9	ORPHA:94088
HP:0012595	Mild proteinuria	116085	SLC22A12	ORPHA:94088
HP:0012595	Mild proteinuria	5076	PAX2	OMIM:120330
HP:0012597	Heavy proteinuria	65082	VPS33A	ORPHA:505248
HP:0012597	Heavy proteinuria	57107	PDSS2	ORPHA:255249
HP:0012597	Heavy proteinuria	27235	COQ2	ORPHA:255249
HP:0012598	Abnormal urine potassium concentration	476	ATP1A1	OMIM:618314
HP:0012598	Abnormal urine potassium concentration	476	ATP1A1	ORPHA:564178
HP:0012598	Abnormal urine potassium concentration	6557	SLC12A1	OMIM:601678
HP:0012598	Abnormal urine potassium concentration	3758	KCNJ1	OMIM:241200
HP:0012598	Abnormal urine potassium concentration	3766	KCNJ10	OMIM:612780
HP:0012598	Abnormal urine potassium concentration	7809	BSND	ORPHA:89938
HP:0012598	Abnormal urine potassium concentration	7809	BSND	OMIM:602522
HP:0012598	Abnormal urine potassium concentration	1187	CLCNKA	ORPHA:89938
HP:0012598	Abnormal urine potassium concentration	1187	CLCNKA	OMIM:613090
HP:0012598	Abnormal urine potassium concentration	1962	EHHADH	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	2628	GATM	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	137682	NDUFAF6	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	6569	SLC34A1	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	866	SERPINA6	OMIM:611489
HP:0012598	Abnormal urine potassium concentration	100134444	KCNJ18	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	2556	GABRA3	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	779	CACNA1S	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	1188	CLCNKB	ORPHA:358
HP:0012598	Abnormal urine potassium concentration	6559	SLC12A3	ORPHA:358
HP:0012598	Abnormal urine potassium concentration	1583	CYP11A1	ORPHA:289548
HP:0012598	Abnormal urine potassium concentration	1583	CYP11A1	ORPHA:168558
HP:0012598	Abnormal urine potassium concentration	1497	CTNS	ORPHA:411634
HP:0012599	Abnormal urine phosphate concentration	2778	GNAS	ORPHA:562
HP:0012599	Abnormal urine phosphate concentration	5251	PHEX	OMIM:307800
HP:0012599	Abnormal urine phosphate concentration	5251	PHEX	ORPHA:89936
HP:0012599	Abnormal urine phosphate concentration	3636	INPPL1	OMIM:258480
HP:0012599	Abnormal urine phosphate concentration	1184	CLCN5	OMIM:300554
HP:0012599	Abnormal urine phosphate concentration	1184	CLCN5	OMIM:300009
HP:0012599	Abnormal urine phosphate concentration	1758	DMP1	ORPHA:289176
HP:0012599	Abnormal urine phosphate concentration	5167	ENPP1	ORPHA:289176
HP:0012599	Abnormal urine phosphate concentration	142680	SLC34A3	OMIM:241530
HP:0012599	Abnormal urine phosphate concentration	9368	NHERF1	OMIM:612287
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:616963
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:612286
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:613388
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	1497	CTNS	ORPHA:411634
HP:0012599	Abnormal urine phosphate concentration	8074	FGF23	OMIM:193100
HP:0012599	Abnormal urine phosphate concentration	1962	EHHADH	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	2628	GATM	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	137682	NDUFAF6	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	5745	PTH1R	OMIM:156400
HP:0012599	Abnormal urine phosphate concentration	229	ALDOB	OMIM:229600
HP:0012599	Abnormal urine phosphate concentration	4574	MT-TS1	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	4570	MT-TN	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	6834	SURF1	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	368	ABCC6	ORPHA:51608
HP:0012599	Abnormal urine phosphate concentration	3172	HNF4A	OMIM:616026
HP:0012599	Abnormal urine phosphate concentration	84334	COA8	ORPHA:436271
HP:0012599	Abnormal urine phosphate concentration	4221	MEN1	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	9247	GCM2	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	79577	CDC73	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	3845	KRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	4893	NRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	3265	HRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	4952	OCRL	OMIM:309000
HP:0012599	Abnormal urine phosphate concentration	6514	SLC2A2	OMIM:227810
HP:0012599	Abnormal urine phosphate concentration	6514	SLC2A2	ORPHA:2088
HP:0012599	Abnormal urine phosphate concentration	540	ATP7B	OMIM:277900
HP:0012599	Abnormal urine phosphate concentration	846	CASR	OMIM:239200
HP:0012599	Abnormal urine phosphate concentration	54757	FAM20A	ORPHA:1031
HP:0012593	Nephrotic range proteinuria	50485	SMARCAL1	ORPHA:1830
HP:0012593	Nephrotic range proteinuria	975	CD81	OMIM:613496
HP:0012593	Nephrotic range proteinuria	1650	DDOST	ORPHA:300536
HP:0012593	Nephrotic range proteinuria	9722	NOS1AP	OMIM:619155
HP:0009535	Aplasia of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009535	Aplasia of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009535	Aplasia of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009535	Aplasia of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009537	Flexion contracture of the 2nd finger	3955	LFNG	OMIM:609813
HP:0009537	Flexion contracture of the 2nd finger	1277	COL1A1	OMIM:130060
HP:0009537	Flexion contracture of the 2nd finger	6134	RPL10	OMIM:300998
HP:0009537	Flexion contracture of the 2nd finger	23327	NEDD4L	OMIM:617201
HP:0009537	Flexion contracture of the 2nd finger	8985	PLOD3	OMIM:612394
HP:0009536	Short 2nd finger	9896	FIG4	OMIM:216340
HP:0009536	Short 2nd finger	650	BMP2	OMIM:112600
HP:0009536	Short 2nd finger	2239	GPC4	ORPHA:373
HP:0009536	Short 2nd finger	2719	GPC3	ORPHA:373
HP:0009536	Short 2nd finger	4212	MEIS2	OMIM:600987
HP:0009536	Short 2nd finger	10265	IRX5	OMIM:611174
HP:0009536	Short 2nd finger	1280	COL2A1	OMIM:271700
HP:0009536	Short 2nd finger	658	BMPR1B	OMIM:616849
HP:0009536	Short 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009536	Short 2nd finger	4613	MYCN	ORPHA:391641
HP:0009536	Short 2nd finger	10847	SRCAP	OMIM:136140
HP:0009536	Short 2nd finger	860	RUNX2	OMIM:119600
HP:0009536	Short 2nd finger	860	RUNX2	OMIM:156510
HP:0009536	Short 2nd finger	8200	GDF5	OMIM:615072
HP:0009536	Short 2nd finger	8200	GDF5	OMIM:113100
HP:0009536	Short 2nd finger	27152	INTU	OMIM:617926
HP:0009536	Short 2nd finger	56992	KIF15	ORPHA:261323
HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	3955	LFNG	OMIM:609813
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1277	COL1A1	OMIM:130060
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	6134	RPL10	OMIM:300998
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	23327	NEDD4L	OMIM:617201
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	8985	PLOD3	OMIM:612394
HP:0009541	Abnormality of the phalanges of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009541	Abnormality of the phalanges of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009541	Abnormality of the phalanges of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009541	Abnormality of the phalanges of the 2nd finger	650	BMP2	OMIM:112600
HP:0009541	Abnormality of the phalanges of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009541	Abnormality of the phalanges of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009541	Abnormality of the phalanges of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009541	Abnormality of the phalanges of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009541	Abnormality of the phalanges of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009541	Abnormality of the phalanges of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009541	Abnormality of the phalanges of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009541	Abnormality of the phalanges of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009541	Abnormality of the phalanges of the 2nd finger	27152	INTU	OMIM:617926
HP:0009541	Abnormality of the phalanges of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009541	Abnormality of the phalanges of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009541	Abnormality of the phalanges of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009541	Abnormality of the phalanges of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	8200	GDF5	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	650	BMP2	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	650	BMP2	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	27152	INTU	OMIM:617926
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0002380	Fasciculations	9131	AIFM1	ORPHA:238329
HP:0002380	Fasciculations	9131	AIFM1	OMIM:300816
HP:0002380	Fasciculations	10558	SPTLC1	OMIM:162400
HP:0002380	Fasciculations	427	ASAH1	OMIM:159950
HP:0002380	Fasciculations	11340	EXOSC8	OMIM:616081
HP:0002380	Fasciculations	11340	EXOSC8	ORPHA:2254
HP:0002380	Fasciculations	23250	ATP11A	OMIM:619851
HP:0002380	Fasciculations	4724	NDUFS4	OMIM:252010
HP:0002380	Fasciculations	7317	UBA1	ORPHA:1145
HP:0002380	Fasciculations	7317	UBA1	OMIM:301830
HP:0002380	Fasciculations	64856	VWA1	OMIM:619216
HP:0002380	Fasciculations	203190	LGI3	OMIM:620007
HP:0002380	Fasciculations	55005	RMND1	OMIM:614922
HP:0002380	Fasciculations	23287	AGTPBP1	ORPHA:2254
HP:0002380	Fasciculations	23287	AGTPBP1	OMIM:618276
HP:0002380	Fasciculations	51010	EXOSC3	ORPHA:2254
HP:0002380	Fasciculations	51010	EXOSC3	OMIM:614678
HP:0002380	Fasciculations	91137	SLC25A46	ORPHA:2254
HP:0002380	Fasciculations	8087	FXR1	OMIM:618822
HP:0002380	Fasciculations	8087	FXR1	OMIM:618823
HP:0002380	Fasciculations	79581	SLC52A2	OMIM:614707
HP:0002380	Fasciculations	773	CACNA1A	ORPHA:569
HP:0002380	Fasciculations	112476	PRRT2	ORPHA:569
HP:0002380	Fasciculations	6323	SCN1A	ORPHA:569
HP:0002380	Fasciculations	477	ATP1A2	ORPHA:569
HP:0002380	Fasciculations	79628	SH3TC2	OMIM:601596
HP:0002380	Fasciculations	79628	SH3TC2	ORPHA:99949
HP:0002380	Fasciculations	54936	ADPRS	OMIM:618170
HP:0002380	Fasciculations	7259	TSPYL1	OMIM:608800
HP:0002380	Fasciculations	127833	SYT2	OMIM:619461
HP:0002380	Fasciculations	51305	KCNK9	ORPHA:166108
HP:0002380	Fasciculations	84466	MEGF10	OMIM:614399
HP:0002380	Fasciculations	58497	PRUNE1	ORPHA:544469
HP:0002380	Fasciculations	89874	SLC25A21	OMIM:618811
HP:0002380	Fasciculations	4359	MPZ	OMIM:145900
HP:0002380	Fasciculations	5376	PMP22	OMIM:145900
HP:0002380	Fasciculations	1959	EGR2	OMIM:145900
HP:0002380	Fasciculations	57716	PRX	OMIM:145900
HP:0002380	Fasciculations	113278	SLC52A3	OMIM:211530
HP:0002380	Fasciculations	10749	KIF1C	ORPHA:397946
HP:0002380	Fasciculations	10749	KIF1C	OMIM:611302
HP:0002380	Fasciculations	1410	CRYAB	OMIM:608810
HP:0002380	Fasciculations	1938	EEF2	ORPHA:101112
HP:0002380	Fasciculations	5393	EXOSC9	OMIM:618065
HP:0002380	Fasciculations	23345	SYNE1	ORPHA:88644
HP:0002380	Fasciculations	22880	MORC2	OMIM:616688
HP:0002380	Fasciculations	22880	MORC2	ORPHA:466768
HP:0002380	Fasciculations	3315	HSPB1	OMIM:606595
HP:0002380	Fasciculations	2521	FUS	ORPHA:275872
HP:0002380	Fasciculations	2521	FUS	OMIM:608030
HP:0002380	Fasciculations	8878	SQSTM1	ORPHA:275872
HP:0002380	Fasciculations	8878	SQSTM1	ORPHA:275864
HP:0002380	Fasciculations	8878	SQSTM1	OMIM:616437
HP:0002380	Fasciculations	7415	VCP	ORPHA:275872
HP:0002380	Fasciculations	7415	VCP	ORPHA:52430
HP:0002380	Fasciculations	7415	VCP	ORPHA:329478
HP:0002380	Fasciculations	7415	VCP	OMIM:613954
HP:0002380	Fasciculations	7415	VCP	ORPHA:275864
HP:0002380	Fasciculations	23435	TARDBP	ORPHA:275872
HP:0002380	Fasciculations	29110	TBK1	ORPHA:275872
HP:0002380	Fasciculations	29110	TBK1	OMIM:616439
HP:0002380	Fasciculations	400916	CHCHD10	ORPHA:275872
HP:0002380	Fasciculations	400916	CHCHD10	OMIM:615048
HP:0002380	Fasciculations	400916	CHCHD10	ORPHA:276435
HP:0002380	Fasciculations	7879	RAB7A	OMIM:600882
HP:0002380	Fasciculations	3074	HEXB	ORPHA:309162
HP:0002380	Fasciculations	3074	HEXB	ORPHA:309169
HP:0002380	Fasciculations	3074	HEXB	OMIM:268800
HP:0002380	Fasciculations	55187	VPS13D	OMIM:607317
HP:0002380	Fasciculations	55187	VPS13D	ORPHA:95434
HP:0002380	Fasciculations	6647	SOD1	OMIM:618598
HP:0002380	Fasciculations	6647	SOD1	OMIM:105400
HP:0002380	Fasciculations	6311	ATXN2	OMIM:183090
HP:0002380	Fasciculations	6311	ATXN2	ORPHA:98756
HP:0002380	Fasciculations	10613	ERLIN1	OMIM:615681
HP:0002380	Fasciculations	10528	NOP56	OMIM:614153
HP:0002380	Fasciculations	10528	NOP56	ORPHA:276198
HP:0002380	Fasciculations	5660	PSAP	OMIM:611721
HP:0002380	Fasciculations	90678	LRSAM1	OMIM:614436
HP:0002380	Fasciculations	10342	TFG	OMIM:604484
HP:0002380	Fasciculations	7443	VRK1	OMIM:607596
HP:0002380	Fasciculations	6785	ELOVL4	OMIM:133190
HP:0002380	Fasciculations	3178	HNRNPA1	ORPHA:52430
HP:0002380	Fasciculations	3181	HNRNPA2B1	ORPHA:52430
HP:0002380	Fasciculations	6310	ATXN1	ORPHA:98755
HP:0002380	Fasciculations	6310	ATXN1	OMIM:164400
HP:0002380	Fasciculations	57104	PNPLA2	OMIM:610717
HP:0002380	Fasciculations	57104	PNPLA2	ORPHA:98908
HP:0002380	Fasciculations	487	ATP2A1	OMIM:601003
HP:0002380	Fasciculations	6904	TBCD	ORPHA:496641
HP:0002380	Fasciculations	55129	ANO10	ORPHA:284289
HP:0002380	Fasciculations	55129	ANO10	OMIM:613728
HP:0002380	Fasciculations	3094	HINT1	OMIM:137200
HP:0002380	Fasciculations	23299	BICD2	OMIM:615290
HP:0002380	Fasciculations	7345	UCHL1	OMIM:615491
HP:0002380	Fasciculations	2717	GLA	OMIM:301500
HP:0002380	Fasciculations	182	JAG1	OMIM:619574
HP:0002380	Fasciculations	81545	FBXO38	OMIM:615575
HP:0002380	Fasciculations	10133	OPTN	OMIM:613435
HP:0002380	Fasciculations	311	ANXA11	OMIM:619733
HP:0002380	Fasciculations	55681	SCYL2	ORPHA:1143
HP:0002380	Fasciculations	84570	COL25A1	ORPHA:1143
HP:0002380	Fasciculations	57222	ERGIC1	ORPHA:1143
HP:0002380	Fasciculations	6261	RYR1	ORPHA:324581
HP:0002380	Fasciculations	9997	SCO2	ORPHA:521411
HP:0002380	Fasciculations	80208	SPG11	OMIM:602099
HP:0002380	Fasciculations	5216	PFN1	OMIM:614808
HP:0002380	Fasciculations	27072	VPS41	ORPHA:95434
HP:0002380	Fasciculations	9217	VAPB	OMIM:608627
HP:0002380	Fasciculations	9217	VAPB	OMIM:182980
HP:0002380	Fasciculations	899	CCNF	OMIM:619141
HP:0002380	Fasciculations	57531	HACE1	ORPHA:464282
HP:0002380	Fasciculations	114034	TOE1	ORPHA:284339
HP:0002380	Fasciculations	9562	MINPP1	ORPHA:284339
HP:0002380	Fasciculations	6329	SCN4A	ORPHA:682
HP:0002380	Fasciculations	2743	GLRB	ORPHA:3197
HP:0002380	Fasciculations	2741	GLRA1	ORPHA:3197
HP:0002380	Fasciculations	10243	GPHN	ORPHA:3197
HP:0002380	Fasciculations	84896	ATAD1	ORPHA:3197
HP:0002380	Fasciculations	9152	SLC6A5	ORPHA:3197
HP:0002380	Fasciculations	65250	CPLANE1	ORPHA:65684
HP:0002380	Fasciculations	57562	CEP126	ORPHA:65684
HP:0002380	Fasciculations	25978	CHMP2B	ORPHA:275864
HP:0002380	Fasciculations	5663	PSEN1	ORPHA:275864
HP:0002380	Fasciculations	2896	GRN	ORPHA:275864
HP:0002380	Fasciculations	54664	TMEM106B	ORPHA:275864
HP:0002380	Fasciculations	4137	MAPT	ORPHA:275864
HP:0002380	Fasciculations	54209	TREM2	ORPHA:275864
HP:0002380	Fasciculations	367	AR	OMIM:313200
HP:0002380	Fasciculations	5630	PRPH	OMIM:105400
HP:0002380	Fasciculations	1639	DCTN1	OMIM:105400
HP:0002380	Fasciculations	4744	NEFH	OMIM:105400
HP:0002380	Fasciculations	1756	DMD	ORPHA:206546
HP:0002380	Fasciculations	4747	NEFL	ORPHA:101085
HP:0002380	Fasciculations	23258	DENND5A	OMIM:617281
HP:0002380	Fasciculations	4287	ATXN3	ORPHA:276238
HP:0002380	Fasciculations	4287	ATXN3	OMIM:109150
HP:0002380	Fasciculations	4287	ATXN3	ORPHA:276244
HP:0002380	Fasciculations	4287	ATXN3	ORPHA:276241
HP:0002380	Fasciculations	54902	TTC19	OMIM:615157
HP:0002380	Fasciculations	25814	ATXN10	OMIM:603516
HP:0002380	Fasciculations	6606	SMN1	OMIM:253400
HP:0002380	Fasciculations	6607	SMN2	OMIM:253400
HP:0002383	Infectious encephalitis	6772	STAT1	ORPHA:391487
HP:0002383	Infectious encephalitis	10043	TOM1	ORPHA:391487
HP:0002383	Infectious encephalitis	695	BTK	OMIM:300755
HP:0002383	Infectious encephalitis	695	BTK	OMIM:307200
HP:0002383	Infectious encephalitis	4261	CIITA	OMIM:209920
HP:0002383	Infectious encephalitis	5994	RFXAP	OMIM:209920
HP:0002383	Infectious encephalitis	5993	RFX5	OMIM:209920
HP:0002383	Infectious encephalitis	8625	RFXANK	OMIM:209920
HP:0002383	Infectious encephalitis	8517	IKBKG	ORPHA:464
HP:0002383	Infectious encephalitis	5551	PRF1	ORPHA:540
HP:0002383	Infectious encephalitis	5551	PRF1	OMIM:603553
HP:0002383	Infectious encephalitis	8676	STX11	ORPHA:540
HP:0002383	Infectious encephalitis	201294	UNC13D	ORPHA:540
HP:0002383	Infectious encephalitis	6813	STXBP2	ORPHA:540
HP:0002383	Infectious encephalitis	8915	BCL10	OMIM:616098
HP:0002383	Infectious encephalitis	54968	TMEM70	ORPHA:1194
HP:0002383	Infectious encephalitis	3930	LBR	ORPHA:779
HP:0002383	Infectious encephalitis	3662	IRF4	ORPHA:3452
HP:0002383	Infectious encephalitis	331	XIAP	OMIM:308240
HP:0002383	Infectious encephalitis	4068	SH2D1A	OMIM:308240
HP:0002383	Infectious encephalitis	340024	SLC6A19	ORPHA:2116
HP:0002383	Infectious encephalitis	57393	CLTRN	ORPHA:2116
HP:0002383	Infectious encephalitis	546	ATRX	ORPHA:847
HP:0002383	Infectious encephalitis	79944	L2HGDH	ORPHA:79314
HP:0002383	Infectious encephalitis	149233	IL23R	ORPHA:117
HP:0002383	Infectious encephalitis	6775	STAT4	ORPHA:117
HP:0002383	Infectious encephalitis	3586	IL10	ORPHA:117
HP:0002383	Infectious encephalitis	4210	MEFV	ORPHA:117
HP:0002383	Infectious encephalitis	1230	CCR1	ORPHA:117
HP:0002383	Infectious encephalitis	355	FAS	ORPHA:117
HP:0002383	Infectious encephalitis	3592	IL12A	ORPHA:117
HP:0002383	Infectious encephalitis	101928376	IL12A-AS1	ORPHA:117
HP:0002383	Infectious encephalitis	3106	HLA-B	ORPHA:117
HP:0002383	Infectious encephalitis	7099	TLR4	ORPHA:117
HP:0002383	Infectious encephalitis	3459	IFNGR1	ORPHA:117
HP:0002383	Infectious encephalitis	720	C4A	ORPHA:117
HP:0002383	Infectious encephalitis	337867	UBAC2	ORPHA:117
HP:0002383	Infectious encephalitis	51752	ERAP1	ORPHA:117
HP:0002383	Infectious encephalitis	8302	KLRC4	ORPHA:117
HP:0002383	Infectious encephalitis	7098	TLR3	OMIM:613002
HP:0002383	Infectious encephalitis	10525	HYOU1	OMIM:233600
HP:0002383	Infectious encephalitis	3661	IRF3	OMIM:616532
HP:0002383	Infectious encephalitis	148022	TICAM1	OMIM:614850
HP:0002383	Infectious encephalitis	81622	UNC93B1	OMIM:610551
HP:0002383	Infectious encephalitis	29110	TBK1	OMIM:617900
HP:0002383	Infectious encephalitis	3071	NCKAP1L	OMIM:618982
HP:0002383	Infectious encephalitis	7187	TRAF3	OMIM:614849
HP:0002383	Infectious encephalitis	677814	SNORA31	OMIM:619396
HP:0002383	Infectious encephalitis	939	CD27	OMIM:615122
HP:0002383	Infectious encephalitis	51163	DBR1	OMIM:619441
HP:0002383	Infectious encephalitis	959	CD40LG	OMIM:308230
HP:0002385	Paraparesis	23111	SPART	OMIM:275900
HP:0002385	Paraparesis	23111	SPART	ORPHA:101000
HP:0002385	Paraparesis	4524	MTHFR	ORPHA:395
HP:0002385	Paraparesis	84265	POLR3GL	OMIM:619234
HP:0002385	Paraparesis	91574	MTRFR	ORPHA:254930
HP:0002385	Paraparesis	91574	MTRFR	ORPHA:320375
HP:0002385	Paraparesis	4099	MAG	OMIM:616680
HP:0002385	Paraparesis	10159	ATP6AP2	ORPHA:363654
HP:0002385	Paraparesis	55532	SLC30A10	ORPHA:309854
HP:0002385	Paraparesis	55532	SLC30A10	OMIM:613280
HP:0002385	Paraparesis	9255	AIMP1	OMIM:260600
HP:0002385	Paraparesis	3425	IDUA	ORPHA:93474
HP:0002385	Paraparesis	3425	IDUA	ORPHA:93473
HP:0002385	Paraparesis	57165	GJC2	OMIM:608804
HP:0002385	Paraparesis	54880	BCOR	OMIM:300166
HP:0002385	Paraparesis	2670	GFAP	ORPHA:363722
HP:0002385	Paraparesis	440193	CCDC88C	OMIM:616053
HP:0002385	Paraparesis	440193	CCDC88C	ORPHA:423275
HP:0002385	Paraparesis	80207	OPA3	ORPHA:67047
HP:0002385	Paraparesis	125988	MICOS13	ORPHA:67047
HP:0002385	Paraparesis	80347	COASY	OMIM:615643
HP:0002385	Paraparesis	80347	COASY	ORPHA:397725
HP:0002385	Paraparesis	9409	PEX16	OMIM:614877
HP:0002385	Paraparesis	1910	EDNRB	OMIM:277580
HP:0002385	Paraparesis	11152	WDR45	ORPHA:329284
HP:0002385	Paraparesis	11152	WDR45	OMIM:300894
HP:0002385	Paraparesis	93587	TRMT10A	ORPHA:391408
HP:0002385	Paraparesis	84919	PPP1R15B	ORPHA:391408
HP:0002385	Paraparesis	6663	SOX10	OMIM:609136
HP:0002385	Paraparesis	5354	PLP1	ORPHA:280229
HP:0002385	Paraparesis	10166	SLC25A15	OMIM:238970
HP:0002385	Paraparesis	51324	SPG21	OMIM:248900
HP:0002385	Paraparesis	55149	MTPAP	OMIM:613672
HP:0002385	Paraparesis	55149	MTPAP	ORPHA:254343
HP:0002385	Paraparesis	6389	SDHA	ORPHA:3208
HP:0002385	Paraparesis	6390	SDHB	ORPHA:3208
HP:0002385	Paraparesis	6392	SDHD	ORPHA:3208
HP:0002385	Paraparesis	644096	SDHAF1	ORPHA:3208
HP:0002385	Paraparesis	10939	AFG3L2	OMIM:614487
HP:0002385	Paraparesis	10939	AFG3L2	ORPHA:313772
HP:0002385	Paraparesis	383	ARG1	OMIM:207800
HP:0002385	Paraparesis	2806	GOT2	OMIM:618721
HP:0002385	Paraparesis	84188	FAR1	OMIM:619338
HP:0002385	Paraparesis	686	BTD	ORPHA:79241
HP:0002385	Paraparesis	23389	MED13L	ORPHA:369891
HP:0002385	Paraparesis	7276	TTR	OMIM:105210
HP:0002385	Paraparesis	224	ALDH3A2	OMIM:270200
HP:0002385	Paraparesis	4860	PNP	ORPHA:760
HP:0002385	Paraparesis	58497	PRUNE1	ORPHA:544469
HP:0002385	Paraparesis	9907	AP5Z1	OMIM:613647
HP:0002385	Paraparesis	10535	RNASEH2A	ORPHA:51
HP:0002385	Paraparesis	84153	RNASEH2C	ORPHA:51
HP:0002385	Paraparesis	25939	SAMHD1	ORPHA:51
HP:0002385	Paraparesis	79621	RNASEH2B	ORPHA:51
HP:0002385	Paraparesis	103	ADAR	ORPHA:51
HP:0002385	Paraparesis	11277	TREX1	ORPHA:51
HP:0002385	Paraparesis	100147744	RNU7-1	ORPHA:51
HP:0002385	Paraparesis	134353	LSM11	ORPHA:51
HP:0002385	Paraparesis	64135	IFIH1	ORPHA:51
HP:0002385	Paraparesis	2629	GBA1	OMIM:231000
HP:0002385	Paraparesis	427	ASAH1	ORPHA:333
HP:0002385	Paraparesis	1593	CYP27A1	ORPHA:909
HP:0002385	Paraparesis	1213	CLTC	OMIM:617854
HP:0002385	Paraparesis	54902	TTC19	OMIM:615157
HP:0002385	Paraparesis	9289	ADGRG1	ORPHA:98889
HP:0002385	Paraparesis	5297	PI4KA	ORPHA:98889
HP:0002385	Paraparesis	27286	SRPX2	ORPHA:98889
HP:0002385	Paraparesis	2521	FUS	ORPHA:275872
HP:0002385	Paraparesis	8878	SQSTM1	ORPHA:275872
HP:0002385	Paraparesis	7415	VCP	ORPHA:275872
HP:0002385	Paraparesis	23435	TARDBP	ORPHA:275872
HP:0002385	Paraparesis	29110	TBK1	ORPHA:275872
HP:0002385	Paraparesis	400916	CHCHD10	ORPHA:275872
HP:0002385	Paraparesis	5428	POLG	ORPHA:726
HP:0002385	Paraparesis	3431	SP110	ORPHA:79124
HP:0002385	Paraparesis	80704	SLC19A3	OMIM:607483
HP:0002385	Paraparesis	203228	C9orf72	OMIM:105550
HP:0002385	Paraparesis	23400	ATP13A2	OMIM:606693
HP:0002385	Paraparesis	5631	PRPS1	ORPHA:99014
HP:0002385	Paraparesis	4763	NF1	OMIM:162210
HP:0002385	Paraparesis	215	ABCD1	OMIM:300100
HP:0002385	Paraparesis	2705	GJB1	OMIM:302800
HP:0002385	Paraparesis	80208	SPG11	ORPHA:2822
HP:0002385	Paraparesis	80199	FUZ	ORPHA:1136
HP:0002385	Paraparesis	8792	TNFRSF11A	OMIM:602080
HP:0002385	Paraparesis	498	ATP5F1A	OMIM:620358
HP:0002385	Paraparesis	2697	GJA1	OMIM:164200
HP:0002385	Paraparesis	2593	GAMT	OMIM:612736
HP:0002385	Paraparesis	126129	CPT1C	ORPHA:444099
HP:0002385	Paraparesis	85465	SELENOI	ORPHA:506353
HP:0002385	Paraparesis	6687	SPG7	ORPHA:35689
HP:0002385	Paraparesis	2581	GALC	ORPHA:206448
HP:0002385	Paraparesis	79152	FA2H	ORPHA:329308
HP:0002385	Paraparesis	6905	TBCE	ORPHA:496756
HP:0001276	Hypertonia	10749	KIF1C	ORPHA:397946
HP:0001276	Hypertonia	10749	KIF1C	OMIM:611302
HP:0001276	Hypertonia	104	ADARB1	OMIM:618862
HP:0001276	Hypertonia	23019	CNOT1	OMIM:618500
HP:0001276	Hypertonia	9853	RUSC2	OMIM:617773
HP:0001276	Hypertonia	55823	VPS11	OMIM:616683
HP:0001276	Hypertonia	55823	VPS11	ORPHA:466934
HP:0001276	Hypertonia	4750	NEK1	OMIM:617892
HP:0001276	Hypertonia	4750	NEK1	ORPHA:803
HP:0001276	Hypertonia	51569	UFM1	OMIM:617899
HP:0001276	Hypertonia	6873	TAF2	OMIM:615599
HP:0001276	Hypertonia	6873	TAF2	ORPHA:397951
HP:0001276	Hypertonia	7360	UGP2	OMIM:618744
HP:0001276	Hypertonia	81857	MED25	OMIM:616449
HP:0001276	Hypertonia	81857	MED25	ORPHA:464738
HP:0001276	Hypertonia	1786	DNMT1	ORPHA:314404
HP:0001276	Hypertonia	1786	DNMT1	OMIM:604121
HP:0001276	Hypertonia	3074	HEXB	ORPHA:309169
HP:0001276	Hypertonia	3074	HEXB	ORPHA:309155
HP:0001276	Hypertonia	3074	HEXB	OMIM:268800
HP:0001276	Hypertonia	3020	H3-3A	OMIM:619720
HP:0001276	Hypertonia	65993	MRPS34	OMIM:617664
HP:0001276	Hypertonia	57231	SNX14	ORPHA:397709
HP:0001276	Hypertonia	57231	SNX14	OMIM:616354
HP:0001276	Hypertonia	288	ANK3	OMIM:615493
HP:0001276	Hypertonia	288	ANK3	ORPHA:356996
HP:0001276	Hypertonia	10111	RAD50	OMIM:613078
HP:0001276	Hypertonia	55681	SCYL2	OMIM:618766
HP:0001276	Hypertonia	5191	PEX7	OMIM:215100
HP:0001276	Hypertonia	283987	HID1	OMIM:619983
HP:0001276	Hypertonia	4558	MT-TF	OMIM:545000
HP:0001276	Hypertonia	4571	MT-TP	OMIM:545000
HP:0001276	Hypertonia	4565	MT-TI	OMIM:545000
HP:0001276	Hypertonia	6712	SPTBN2	OMIM:615386
HP:0001276	Hypertonia	6712	SPTBN2	ORPHA:352403
HP:0001276	Hypertonia	5833	PCYT2	OMIM:618770
HP:0001276	Hypertonia	388962	BOLA3	OMIM:614299
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93926
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93924
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93925
HP:0001276	Hypertonia	28514	DLL1	ORPHA:220386
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93926
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93924
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93925
HP:0001276	Hypertonia	2253	FGF8	ORPHA:220386
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93926
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93924
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93925
HP:0001276	Hypertonia	6496	SIX3	ORPHA:220386
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93926
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93924
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93925
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:220386
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93926
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93924
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93925
HP:0001276	Hypertonia	4838	NODAL	ORPHA:220386
HP:0001276	Hypertonia	6469	SHH	ORPHA:93926
HP:0001276	Hypertonia	6469	SHH	ORPHA:93924
HP:0001276	Hypertonia	6469	SHH	ORPHA:93925
HP:0001276	Hypertonia	6469	SHH	ORPHA:220386
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93926
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93924
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93925
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:220386
HP:0001276	Hypertonia	6491	STIL	ORPHA:93926
HP:0001276	Hypertonia	6491	STIL	ORPHA:93924
HP:0001276	Hypertonia	6491	STIL	ORPHA:93925
HP:0001276	Hypertonia	6491	STIL	ORPHA:220386
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93926
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93924
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93925
HP:0001276	Hypertonia	2619	GAS1	ORPHA:220386
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93926
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93924
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93925
HP:0001276	Hypertonia	84976	DISP1	ORPHA:220386
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93926
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93924
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93925
HP:0001276	Hypertonia	2736	GLI2	ORPHA:220386
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93926
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93924
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93925
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:220386
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93926
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93924
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93925
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:220386
HP:0001276	Hypertonia	50937	CDON	ORPHA:93926
HP:0001276	Hypertonia	50937	CDON	ORPHA:93924
HP:0001276	Hypertonia	50937	CDON	ORPHA:93925
HP:0001276	Hypertonia	50937	CDON	ORPHA:220386
HP:0001276	Hypertonia	23007	PLCH1	ORPHA:93925
HP:0001276	Hypertonia	10735	STAG2	ORPHA:93925
HP:0001276	Hypertonia	10735	STAG2	ORPHA:220386
HP:0001276	Hypertonia	79731	NARS2	OMIM:616239
HP:0001276	Hypertonia	2911	GRM1	OMIM:617691
HP:0001276	Hypertonia	29081	METTL5	OMIM:618665
HP:0001276	Hypertonia	55773	TBC1D23	OMIM:617695
HP:0001276	Hypertonia	1182	CLCN3	OMIM:619517
HP:0001276	Hypertonia	51692	CPSF3	OMIM:619876
HP:0001276	Hypertonia	285362	SUMF1	OMIM:272200
HP:0001276	Hypertonia	8517	IKBKG	ORPHA:464
HP:0001276	Hypertonia	8517	IKBKG	OMIM:308300
HP:0001276	Hypertonia	472	ATM	ORPHA:100
HP:0001276	Hypertonia	9533	POLR1C	OMIM:616494
HP:0001276	Hypertonia	54828	BCAS3	OMIM:619641
HP:0001276	Hypertonia	79991	STN1	OMIM:617341
HP:0001276	Hypertonia	9276	COPB2	OMIM:619884
HP:0001276	Hypertonia	9276	COPB2	OMIM:617800
HP:0001276	Hypertonia	122961	ISCA2	OMIM:616370
HP:0001276	Hypertonia	8733	GPAA1	ORPHA:529665
HP:0001276	Hypertonia	8733	GPAA1	OMIM:617810
HP:0001276	Hypertonia	27086	FOXP1	ORPHA:391372
HP:0001276	Hypertonia	253959	RALGAPA1	OMIM:618797
HP:0001276	Hypertonia	11041	B4GAT1	OMIM:615287
HP:0001276	Hypertonia	113179	ADAT3	OMIM:615286
HP:0001276	Hypertonia	113179	ADAT3	ORPHA:363528
HP:0001276	Hypertonia	6942	TCF20	OMIM:618430
HP:0001276	Hypertonia	56947	MFF	ORPHA:485421
HP:0001276	Hypertonia	56947	MFF	OMIM:617086
HP:0001276	Hypertonia	2904	GRIN2B	OMIM:616139
HP:0001276	Hypertonia	2904	GRIN2B	OMIM:613970
HP:0001276	Hypertonia	146227	BEAN1	ORPHA:217012
HP:0001276	Hypertonia	11261	CHP1	OMIM:618438
HP:0001276	Hypertonia	9968	MED12	OMIM:305450
HP:0001276	Hypertonia	38	ACAT1	ORPHA:134
HP:0001276	Hypertonia	4854	NOTCH3	ORPHA:136
HP:0001276	Hypertonia	23556	PIGN	OMIM:614080
HP:0001276	Hypertonia	23162	MAPK8IP3	OMIM:618443
HP:0001276	Hypertonia	79989	IFT56	OMIM:619534
HP:0001276	Hypertonia	23499	MACF1	OMIM:618325
HP:0001276	Hypertonia	23499	MACF1	ORPHA:572013
HP:0001276	Hypertonia	374969	SVBP	OMIM:618569
HP:0001276	Hypertonia	79641	ROGDI	ORPHA:1946
HP:0001276	Hypertonia	79641	ROGDI	OMIM:226750
HP:0001276	Hypertonia	8813	DPM1	ORPHA:79322
HP:0001276	Hypertonia	1967	EIF2B1	OMIM:603896
HP:0001276	Hypertonia	9896	FIG4	ORPHA:208441
HP:0001276	Hypertonia	9896	FIG4	ORPHA:803
HP:0001276	Hypertonia	7040	TGFB1	OMIM:618213
HP:0001276	Hypertonia	205327	C2orf69	OMIM:619423
HP:0001276	Hypertonia	164	AP1G1	OMIM:619548
HP:0001276	Hypertonia	164	AP1G1	OMIM:619467
HP:0001276	Hypertonia	6792	CDKL5	ORPHA:1934
HP:0001276	Hypertonia	6792	CDKL5	ORPHA:3095
HP:0001276	Hypertonia	9091	PIGQ	ORPHA:1934
HP:0001276	Hypertonia	2775	GNAO1	ORPHA:1934
HP:0001276	Hypertonia	2775	GNAO1	OMIM:617493
HP:0001276	Hypertonia	81603	TRIM8	ORPHA:1934
HP:0001276	Hypertonia	79751	SLC25A22	ORPHA:1934
HP:0001276	Hypertonia	79751	SLC25A22	OMIM:609304
HP:0001276	Hypertonia	150094	SIK1	ORPHA:1934
HP:0001276	Hypertonia	23312	DMXL2	ORPHA:1934
HP:0001276	Hypertonia	11284	PNKP	ORPHA:1934
HP:0001276	Hypertonia	4761	NEUROD2	ORPHA:1934
HP:0001276	Hypertonia	1203	CLN5	ORPHA:228360
HP:0001276	Hypertonia	128869	PIGU	OMIM:618590
HP:0001276	Hypertonia	22854	NTNG1	ORPHA:3095
HP:0001276	Hypertonia	6651	SON	OMIM:617140
HP:0001276	Hypertonia	6651	SON	ORPHA:500150
HP:0001276	Hypertonia	112939	NACC1	ORPHA:500545
HP:0001276	Hypertonia	112939	NACC1	OMIM:617393
HP:0001276	Hypertonia	1654	DDX3X	ORPHA:457260
HP:0001276	Hypertonia	1654	DDX3X	OMIM:300958
HP:0001276	Hypertonia	6833	ABCC8	OMIM:240800
HP:0001276	Hypertonia	387119	CEP85L	ORPHA:572013
HP:0001276	Hypertonia	427	ASAH1	ORPHA:333
HP:0001276	Hypertonia	56915	EXOSC5	OMIM:619576
HP:0001276	Hypertonia	51132	RLIM	OMIM:300978
HP:0001276	Hypertonia	92255	LMBRD2	OMIM:619694
HP:0001276	Hypertonia	80224	NUBPL	OMIM:618242
HP:0001276	Hypertonia	3376	IARS1	ORPHA:541423
HP:0001276	Hypertonia	3376	IARS1	OMIM:617093
HP:0001276	Hypertonia	23203	PMPCA	OMIM:213200
HP:0001276	Hypertonia	23203	PMPCA	ORPHA:1170
HP:0001276	Hypertonia	4864	NPC1	OMIM:257220
HP:0001276	Hypertonia	8604	SLC25A12	OMIM:612949
HP:0001276	Hypertonia	1781	DYNC1I2	OMIM:618492
HP:0001276	Hypertonia	112812	FDX2	OMIM:251900
HP:0001276	Hypertonia	2009	EML1	OMIM:600348
HP:0001276	Hypertonia	9757	KMT2B	OMIM:617284
HP:0001276	Hypertonia	9758	FRMPD4	OMIM:300983
HP:0001276	Hypertonia	4700	NDUFA6	OMIM:618253
HP:0001276	Hypertonia	8635	RNASET2	OMIM:612951
HP:0001276	Hypertonia	57187	THOC2	OMIM:300957
HP:0001276	Hypertonia	27107	ZBTB11	OMIM:618383
HP:0001276	Hypertonia	378884	NHLRC1	ORPHA:501
HP:0001276	Hypertonia	7957	EPM2A	ORPHA:501
HP:0001276	Hypertonia	23287	AGTPBP1	OMIM:618276
HP:0001276	Hypertonia	23287	AGTPBP1	ORPHA:2254
HP:0001276	Hypertonia	55670	PEX26	ORPHA:772
HP:0001276	Hypertonia	5824	PEX19	ORPHA:772
HP:0001276	Hypertonia	5828	PEX2	ORPHA:772
HP:0001276	Hypertonia	8799	PEX11B	ORPHA:772
HP:0001276	Hypertonia	5830	PEX5	ORPHA:772
HP:0001276	Hypertonia	5189	PEX1	ORPHA:772
HP:0001276	Hypertonia	5193	PEX12	ORPHA:772
HP:0001276	Hypertonia	5194	PEX13	ORPHA:772
HP:0001276	Hypertonia	5195	PEX14	ORPHA:772
HP:0001276	Hypertonia	5192	PEX10	ORPHA:772
HP:0001276	Hypertonia	1315	COPB1	OMIM:619255
HP:0001276	Hypertonia	4668	NAGA	OMIM:609241
HP:0001276	Hypertonia	4668	NAGA	ORPHA:79279
HP:0001276	Hypertonia	727676	SNORD118	ORPHA:542310
HP:0001276	Hypertonia	727676	SNORD118	OMIM:614561
HP:0001276	Hypertonia	283	ANG	OMIM:611895
HP:0001276	Hypertonia	283	ANG	ORPHA:803
HP:0001276	Hypertonia	5216	PFN1	OMIM:614808
HP:0001276	Hypertonia	5216	PFN1	ORPHA:803
HP:0001276	Hypertonia	23236	PLCB1	OMIM:613722
HP:0001276	Hypertonia	27445	PCLO	OMIM:608027
HP:0001276	Hypertonia	50640	PNPLA8	OMIM:251950
HP:0001276	Hypertonia	27183	VPS4A	OMIM:619273
HP:0001276	Hypertonia	10128	LRPPRC	OMIM:220111
HP:0001276	Hypertonia	10128	LRPPRC	ORPHA:70472
HP:0001276	Hypertonia	375	ARF1	OMIM:618185
HP:0001276	Hypertonia	8506	CNTNAP1	OMIM:618186
HP:0001276	Hypertonia	5393	EXOSC9	OMIM:618065
HP:0001276	Hypertonia	5393	EXOSC9	ORPHA:2254
HP:0001276	Hypertonia	83700	JAM3	OMIM:613730
HP:0001276	Hypertonia	25821	MTO1	OMIM:614702
HP:0001276	Hypertonia	4983	OPHN1	OMIM:300486
HP:0001276	Hypertonia	9442	MED27	OMIM:619286
HP:0001276	Hypertonia	9640	ZNF592	ORPHA:83472
HP:0001276	Hypertonia	9915	ARNT2	OMIM:615926
HP:0001276	Hypertonia	57582	KCNT1	OMIM:614959
HP:0001276	Hypertonia	150468	CKAP2L	ORPHA:3255
HP:0001276	Hypertonia	1738	DLD	ORPHA:2394
HP:0001276	Hypertonia	1351	COX8A	OMIM:619059
HP:0001276	Hypertonia	64207	IRF2BPL	OMIM:618088
HP:0001276	Hypertonia	23325	WASHC4	OMIM:615817
HP:0001276	Hypertonia	1678	TIMM8A	OMIM:304700
HP:0001276	Hypertonia	815	CAMK2A	OMIM:618095
HP:0001276	Hypertonia	9839	ZEB2	ORPHA:261552
HP:0001276	Hypertonia	9839	ZEB2	ORPHA:261537
HP:0001276	Hypertonia	26090	ABHD12	OMIM:612674
HP:0001276	Hypertonia	84947	SERAC1	OMIM:614739
HP:0001276	Hypertonia	2395	FXN	ORPHA:95
HP:0001276	Hypertonia	7025	NR2F1	ORPHA:401777
HP:0001276	Hypertonia	7025	NR2F1	OMIM:615722
HP:0001276	Hypertonia	6804	STX1A	ORPHA:904
HP:0001276	Hypertonia	7461	CLIP2	ORPHA:904
HP:0001276	Hypertonia	84277	DNAJC30	ORPHA:904
HP:0001276	Hypertonia	8468	FKBP6	ORPHA:904
HP:0001276	Hypertonia	5982	RFC2	ORPHA:904
HP:0001276	Hypertonia	2969	GTF2I	ORPHA:904
HP:0001276	Hypertonia	3984	LIMK1	ORPHA:904
HP:0001276	Hypertonia	9569	GTF2IRD1	ORPHA:904
HP:0001276	Hypertonia	155382	VPS37D	ORPHA:904
HP:0001276	Hypertonia	155368	METTL27	ORPHA:904
HP:0001276	Hypertonia	114049	BUD23	ORPHA:904
HP:0001276	Hypertonia	7458	EIF4H	ORPHA:904
HP:0001276	Hypertonia	84163	GTF2IRD2	ORPHA:904
HP:0001276	Hypertonia	9275	BCL7B	ORPHA:904
HP:0001276	Hypertonia	26608	TBL2	ORPHA:904
HP:0001276	Hypertonia	653361	NCF1	ORPHA:904
HP:0001276	Hypertonia	135886	TMEM270	ORPHA:904
HP:0001276	Hypertonia	51085	MLXIPL	ORPHA:904
HP:0001276	Hypertonia	9031	BAZ1B	ORPHA:904
HP:0001276	Hypertonia	2006	ELN	ORPHA:904
HP:0001276	Hypertonia	51010	EXOSC3	ORPHA:2254
HP:0001276	Hypertonia	51010	EXOSC3	OMIM:614678
HP:0001276	Hypertonia	7443	VRK1	ORPHA:2254
HP:0001276	Hypertonia	1282	COL4A1	OMIM:175780
HP:0001276	Hypertonia	9990	SLC12A6	OMIM:620068
HP:0001276	Hypertonia	56623	INPP5E	OMIM:610156
HP:0001276	Hypertonia	25828	TXN2	OMIM:616811
HP:0001276	Hypertonia	50628	GEMIN4	OMIM:617913
HP:0001276	Hypertonia	3954	LETM1	OMIM:620089
HP:0001276	Hypertonia	3178	HNRNPA1	ORPHA:803
HP:0001276	Hypertonia	8148	TAF15	ORPHA:803
HP:0001276	Hypertonia	5445	PON2	ORPHA:803
HP:0001276	Hypertonia	9217	VAPB	ORPHA:803
HP:0001276	Hypertonia	8878	SQSTM1	ORPHA:803
HP:0001276	Hypertonia	5630	PRPH	ORPHA:803
HP:0001276	Hypertonia	5630	PRPH	OMIM:105400
HP:0001276	Hypertonia	29110	TBK1	ORPHA:803
HP:0001276	Hypertonia	55830	GLT8D1	ORPHA:803
HP:0001276	Hypertonia	755	CFAP410	ORPHA:803
HP:0001276	Hypertonia	10891	PPARGC1A	ORPHA:803
HP:0001276	Hypertonia	10133	OPTN	ORPHA:803
HP:0001276	Hypertonia	5444	PON1	ORPHA:803
HP:0001276	Hypertonia	5446	PON3	ORPHA:803
HP:0001276	Hypertonia	4744	NEFH	ORPHA:803
HP:0001276	Hypertonia	4744	NEFH	OMIM:105400
HP:0001276	Hypertonia	9782	MATR3	ORPHA:803
HP:0001276	Hypertonia	23435	TARDBP	ORPHA:803
HP:0001276	Hypertonia	23435	TARDBP	OMIM:612069
HP:0001276	Hypertonia	29978	UBQLN2	ORPHA:803
HP:0001276	Hypertonia	2733	GLE1	ORPHA:803
HP:0001276	Hypertonia	2043	EPHA4	ORPHA:803
HP:0001276	Hypertonia	1610	DAO	ORPHA:803
HP:0001276	Hypertonia	2066	ERBB4	ORPHA:803
HP:0001276	Hypertonia	311	ANXA11	ORPHA:803
HP:0001276	Hypertonia	23025	UNC13A	ORPHA:803
HP:0001276	Hypertonia	899	CCNF	ORPHA:803
HP:0001276	Hypertonia	400916	CHCHD10	ORPHA:803
HP:0001276	Hypertonia	84978	FRMD5	OMIM:620094
HP:0001276	Hypertonia	57410	SCYL1	OMIM:616719
HP:0001276	Hypertonia	57410	SCYL1	ORPHA:466794
HP:0001276	Hypertonia	9230	RAB11B	OMIM:617807
HP:0001276	Hypertonia	6310	ATXN1	OMIM:164400
HP:0001276	Hypertonia	7507	XPA	ORPHA:910
HP:0001276	Hypertonia	7507	XPA	OMIM:278700
HP:0001276	Hypertonia	7508	XPC	ORPHA:910
HP:0001276	Hypertonia	1643	DDB2	ORPHA:910
HP:0001276	Hypertonia	55906	ZC4H2	OMIM:301041
HP:0001276	Hypertonia	55906	ZC4H2	OMIM:314580
HP:0001276	Hypertonia	7167	TPI1	OMIM:615512
HP:0001276	Hypertonia	9698	PUM1	OMIM:617931
HP:0001276	Hypertonia	29926	GMPPA	OMIM:615510
HP:0001276	Hypertonia	2290	FOXG1	OMIM:613454
HP:0001276	Hypertonia	53616	ADAM22	OMIM:617933
HP:0001276	Hypertonia	23600	AMACR	OMIM:614307
HP:0001276	Hypertonia	91147	TMEM67	OMIM:216360
HP:0001276	Hypertonia	55187	VPS13D	OMIM:607317
HP:0001276	Hypertonia	3748	KCNC3	OMIM:605259
HP:0001276	Hypertonia	57505	AARS2	OMIM:615889
HP:0001276	Hypertonia	79644	SRD5A3	OMIM:612379
HP:0001276	Hypertonia	91869	RFT1	OMIM:612015
HP:0001276	Hypertonia	2891	GRIA2	OMIM:618917
HP:0001276	Hypertonia	6314	ATXN7	OMIM:164500
HP:0001276	Hypertonia	9512	PMPCB	OMIM:617954
HP:0001276	Hypertonia	2058	EPRS1	OMIM:617951
HP:0001276	Hypertonia	54463	RETREG1	OMIM:613115
HP:0001276	Hypertonia	100506658	OCLN	ORPHA:1229
HP:0001276	Hypertonia	100506658	OCLN	OMIM:251290
HP:0001276	Hypertonia	84693	MCEE	OMIM:251120
HP:0001276	Hypertonia	5422	POLA1	OMIM:301030
HP:0001276	Hypertonia	1641	DCX	OMIM:300067
HP:0001276	Hypertonia	175	AGA	OMIM:208400
HP:0001276	Hypertonia	81689	ISCA1	OMIM:617613
HP:0001276	Hypertonia	7305	TYROBP	ORPHA:2770
HP:0001276	Hypertonia	7305	TYROBP	OMIM:221770
HP:0001276	Hypertonia	22934	RPIA	OMIM:608611
HP:0001276	Hypertonia	23209	MLC1	OMIM:604004
HP:0001276	Hypertonia	26503	SLC17A5	OMIM:604369
HP:0001276	Hypertonia	79867	TCTN2	OMIM:616654
HP:0001276	Hypertonia	617	BCS1L	OMIM:124000
HP:0001276	Hypertonia	84628	NTNG2	OMIM:618718
HP:0001276	Hypertonia	10577	NPC2	OMIM:607625
HP:0001276	Hypertonia	54802	TRIT1	OMIM:617873
HP:0001276	Hypertonia	23545	ATP6V0A2	ORPHA:357074
HP:0001276	Hypertonia	529	ATP6V1E1	ORPHA:357074
HP:0001276	Hypertonia	5538	PPT1	OMIM:256730
HP:0001276	Hypertonia	9439	MED23	OMIM:614249
HP:0001276	Hypertonia	79583	TMEM231	ORPHA:2752
HP:0001276	Hypertonia	1468	SLC25A10	OMIM:618972
HP:0001276	Hypertonia	8884	SLC5A6	OMIM:618973
HP:0001276	Hypertonia	8803	SUCLA2	OMIM:612073
HP:0001276	Hypertonia	4747	NEFL	OMIM:617882
HP:0001276	Hypertonia	80169	CTC1	OMIM:612199
HP:0001276	Hypertonia	10844	TUBGCP2	OMIM:618737
HP:0001276	Hypertonia	4858	NOVA2	OMIM:618859
HP:0001276	Hypertonia	55753	OGDHL	OMIM:619701
HP:0001276	Hypertonia	5133	PDCD1	OMIM:126200
HP:0001276	Hypertonia	3123	HLA-DRB1	OMIM:126200
HP:0001276	Hypertonia	3912	LAMB1	OMIM:615191
HP:0001276	Hypertonia	8504	PEX3	OMIM:617370
HP:0001276	Hypertonia	4125	MAN2B1	ORPHA:309282
HP:0001276	Hypertonia	9131	AIFM1	ORPHA:83629
HP:0001276	Hypertonia	55182	RNF220	OMIM:619688
HP:0001276	Hypertonia	518	ATP5MC3	OMIM:619681
HP:0001276	Hypertonia	5077	PAX3	ORPHA:896
HP:0001276	Hypertonia	5077	PAX3	OMIM:148820
HP:0001276	Hypertonia	10059	DNM1L	ORPHA:98673
HP:0001276	Hypertonia	64834	ELOVL1	OMIM:618527
HP:0001276	Hypertonia	7920	ABHD16A	OMIM:619735
HP:0001276	Hypertonia	2632	GBE1	OMIM:263570
HP:0001276	Hypertonia	23064	SETX	ORPHA:357043
HP:0001276	Hypertonia	953	ENTPD1	OMIM:615683
HP:0001276	Hypertonia	83636	C19orf12	OMIM:615043
HP:0001276	Hypertonia	8139	GAN	OMIM:256850
HP:0001276	Hypertonia	84842	HPDL	OMIM:619026
HP:0001276	Hypertonia	84842	HPDL	OMIM:619027
HP:0001276	Hypertonia	55656	INTS8	OMIM:618572
HP:0001276	Hypertonia	1499	CTNNB1	OMIM:615075
HP:0001276	Hypertonia	8905	AP1S2	ORPHA:85335
HP:0001276	Hypertonia	8050	PDHX	ORPHA:255182
HP:0001276	Hypertonia	6872	TAF1	OMIM:300966
HP:0001276	Hypertonia	6872	TAF1	ORPHA:480907
HP:0001276	Hypertonia	2316	FLNA	OMIM:300048
HP:0001276	Hypertonia	3295	HSD17B4	OMIM:233400
HP:0001276	Hypertonia	10084	PQBP1	ORPHA:93947
HP:0001276	Hypertonia	55250	ELP2	OMIM:617270
HP:0001276	Hypertonia	22930	RAB3GAP1	OMIM:600118
HP:0001276	Hypertonia	22930	RAB3GAP1	OMIM:619420
HP:0001276	Hypertonia	10381	TUBB3	ORPHA:300570
HP:0001276	Hypertonia	120	ADD3	OMIM:617008
HP:0001276	Hypertonia	4990	SIX6	OMIM:206900
HP:0001276	Hypertonia	6657	SOX2	OMIM:206900
HP:0001276	Hypertonia	10075	HUWE1	OMIM:309590
HP:0001276	Hypertonia	3028	HSD17B10	ORPHA:391428
HP:0001276	Hypertonia	2137	EXTL3	ORPHA:508533
HP:0001276	Hypertonia	11113	CIT	OMIM:617090
HP:0001276	Hypertonia	4702	NDUFA8	OMIM:619272
HP:0001276	Hypertonia	3763	KCNJ6	ORPHA:435628
HP:0001276	Hypertonia	3763	KCNJ6	OMIM:614098
HP:0001276	Hypertonia	6535	SLC6A8	OMIM:300352
HP:0001276	Hypertonia	6535	SLC6A8	ORPHA:52503
HP:0001276	Hypertonia	23394	ADNP	ORPHA:404448
HP:0001276	Hypertonia	5723	PSPH	OMIM:614023
HP:0001276	Hypertonia	5723	PSPH	ORPHA:79350
HP:0001276	Hypertonia	29925	GMPPB	OMIM:615351
HP:0001276	Hypertonia	29925	GMPPB	ORPHA:588
HP:0001276	Hypertonia	55532	SLC30A10	ORPHA:309854
HP:0001276	Hypertonia	22880	MORC2	OMIM:616688
HP:0001276	Hypertonia	22880	MORC2	ORPHA:466768
HP:0001276	Hypertonia	673	BRAF	OMIM:115150
HP:0001276	Hypertonia	55627	SMPD4	OMIM:618622
HP:0001276	Hypertonia	3008	H1-4	OMIM:617537
HP:0001276	Hypertonia	3703	STT3A	OMIM:619714
HP:0001276	Hypertonia	1119	CHKA	OMIM:620023
HP:0001276	Hypertonia	8496	PPFIBP1	OMIM:620024
HP:0001276	Hypertonia	51	ACOX1	ORPHA:2971
HP:0001276	Hypertonia	51	ACOX1	OMIM:264470
HP:0001276	Hypertonia	57176	VARS2	OMIM:615917
HP:0001276	Hypertonia	3073	HEXA	OMIM:272800
HP:0001276	Hypertonia	4072	EPCAM	ORPHA:144
HP:0001276	Hypertonia	4292	MLH1	ORPHA:144
HP:0001276	Hypertonia	5395	PMS2	ORPHA:144
HP:0001276	Hypertonia	27030	MLH3	ORPHA:144
HP:0001276	Hypertonia	22909	FAN1	ORPHA:144
HP:0001276	Hypertonia	7048	TGFBR2	ORPHA:144
HP:0001276	Hypertonia	3845	KRAS	ORPHA:144
HP:0001276	Hypertonia	3845	KRAS	ORPHA:2396
HP:0001276	Hypertonia	5290	PIK3CA	ORPHA:144
HP:0001276	Hypertonia	2956	MSH6	ORPHA:144
HP:0001276	Hypertonia	5378	PMS1	ORPHA:144
HP:0001276	Hypertonia	4436	MSH2	ORPHA:144
HP:0001276	Hypertonia	4552	MTRR	OMIM:236270
HP:0001276	Hypertonia	4535	MT-ND1	ORPHA:255210
HP:0001276	Hypertonia	4536	MT-ND2	ORPHA:255210
HP:0001276	Hypertonia	4537	MT-ND3	ORPHA:255210
HP:0001276	Hypertonia	4538	MT-ND4	ORPHA:255210
HP:0001276	Hypertonia	4567	MT-TL1	ORPHA:255210
HP:0001276	Hypertonia	4578	MT-TW	ORPHA:255210
HP:0001276	Hypertonia	4577	MT-TV	ORPHA:255210
HP:0001276	Hypertonia	4508	MT-ATP6	ORPHA:255210
HP:0001276	Hypertonia	4508	MT-ATP6	ORPHA:225154
HP:0001276	Hypertonia	4540	MT-ND5	ORPHA:255210
HP:0001276	Hypertonia	4541	MT-ND6	ORPHA:255210
HP:0001276	Hypertonia	4566	MT-TK	ORPHA:255210
HP:0001276	Hypertonia	51218	GLRX5	ORPHA:401866
HP:0001276	Hypertonia	6531	SLC6A3	ORPHA:238455
HP:0001276	Hypertonia	6531	SLC6A3	OMIM:613135
HP:0001276	Hypertonia	80816	ASXL3	OMIM:615485
HP:0001276	Hypertonia	80816	ASXL3	ORPHA:352577
HP:0001276	Hypertonia	6536	SLC6A9	OMIM:617301
HP:0001276	Hypertonia	10528	NOP56	OMIM:614153
HP:0001276	Hypertonia	64218	SEMA4A	ORPHA:440437
HP:0001276	Hypertonia	657	BMPR1A	ORPHA:440437
HP:0001276	Hypertonia	6224	RPS20	ORPHA:440437
HP:0001276	Hypertonia	1841	DTYMK	OMIM:619847
HP:0001276	Hypertonia	166378	AFG2A	OMIM:616577
HP:0001276	Hypertonia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001276	Hypertonia	3141	HLCS	OMIM:253270
HP:0001276	Hypertonia	80055	PGAP1	OMIM:615802
HP:0001276	Hypertonia	5610	EIF2AK2	OMIM:618877
HP:0001276	Hypertonia	5610	EIF2AK2	ORPHA:256
HP:0001276	Hypertonia	55163	PNPO	ORPHA:79096
HP:0001276	Hypertonia	55163	PNPO	OMIM:610090
HP:0001276	Hypertonia	1717	DHCR7	ORPHA:818
HP:0001276	Hypertonia	1717	DHCR7	OMIM:270400
HP:0001276	Hypertonia	1410	CRYAB	OMIM:613869
HP:0001276	Hypertonia	271	AMPD2	OMIM:615809
HP:0001276	Hypertonia	271	AMPD2	ORPHA:401805
HP:0001276	Hypertonia	271	AMPD2	OMIM:615686
HP:0001276	Hypertonia	51324	SPG21	OMIM:248900
HP:0001276	Hypertonia	284403	WDR62	OMIM:604317
HP:0001276	Hypertonia	9289	ADGRG1	OMIM:606854
HP:0001276	Hypertonia	2892	GRIA3	OMIM:300699
HP:0001276	Hypertonia	5119	CHMP1A	OMIM:614961
HP:0001276	Hypertonia	9692	PRORP	OMIM:619737
HP:0001276	Hypertonia	10352	WARS2	OMIM:619738
HP:0001276	Hypertonia	10352	WARS2	OMIM:617710
HP:0001276	Hypertonia	3064	HTT	OMIM:617435
HP:0001276	Hypertonia	340024	SLC6A19	OMIM:234500
HP:0001276	Hypertonia	55157	DARS2	ORPHA:137898
HP:0001276	Hypertonia	2770	GNAI1	OMIM:619854
HP:0001276	Hypertonia	2260	FGFR1	ORPHA:2396
HP:0001276	Hypertonia	114034	TOE1	OMIM:614969
HP:0001276	Hypertonia	114034	TOE1	ORPHA:284339
HP:0001276	Hypertonia	2074	ERCC6	OMIM:278800
HP:0001276	Hypertonia	2074	ERCC6	ORPHA:1466
HP:0001276	Hypertonia	7274	TTPA	ORPHA:96
HP:0001276	Hypertonia	283989	TSEN54	ORPHA:166063
HP:0001276	Hypertonia	283989	TSEN54	OMIM:225753
HP:0001276	Hypertonia	22872	SEC31A	OMIM:618651
HP:0001276	Hypertonia	5297	PI4KA	OMIM:619621
HP:0001276	Hypertonia	26053	AUTS2	ORPHA:352490
HP:0001276	Hypertonia	26053	AUTS2	OMIM:615834
HP:0001276	Hypertonia	25930	PTPN23	OMIM:618890
HP:0001276	Hypertonia	23400	ATP13A2	ORPHA:306674
HP:0001276	Hypertonia	23400	ATP13A2	OMIM:606693
HP:0001276	Hypertonia	23036	ZNF292	OMIM:619188
HP:0001276	Hypertonia	2903	GRIN2A	ORPHA:289266
HP:0001276	Hypertonia	6663	SOX10	OMIM:611584
HP:0001276	Hypertonia	23230	VPS13A	ORPHA:2388
HP:0001276	Hypertonia	4338	MOCS2	OMIM:252160
HP:0001276	Hypertonia	9152	SLC6A5	OMIM:614618
HP:0001276	Hypertonia	9152	SLC6A5	ORPHA:3197
HP:0001276	Hypertonia	4247	MGAT2	OMIM:212066
HP:0001276	Hypertonia	2743	GLRB	OMIM:614619
HP:0001276	Hypertonia	2743	GLRB	ORPHA:3197
HP:0001276	Hypertonia	9653	HS2ST1	OMIM:619194
HP:0001276	Hypertonia	1798	DPAGT1	ORPHA:86309
HP:0001276	Hypertonia	1798	DPAGT1	OMIM:608093
HP:0001276	Hypertonia	1267	CNP	OMIM:619071
HP:0001276	Hypertonia	1727	CYB5R3	OMIM:250800
HP:0001276	Hypertonia	1727	CYB5R3	ORPHA:621
HP:0001276	Hypertonia	7157	TP53	ORPHA:2807
HP:0001276	Hypertonia	10717	AP4B1	OMIM:614066
HP:0001276	Hypertonia	149371	EXOC8	OMIM:619076
HP:0001276	Hypertonia	1629	DBT	OMIM:248600
HP:0001276	Hypertonia	593	BCKDHA	OMIM:248600
HP:0001276	Hypertonia	594	BCKDHB	OMIM:248600
HP:0001276	Hypertonia	11154	AP4S1	OMIM:614067
HP:0001276	Hypertonia	2629	GBA1	ORPHA:85212
HP:0001276	Hypertonia	2629	GBA1	ORPHA:2072
HP:0001276	Hypertonia	2629	GBA1	OMIM:230900
HP:0001276	Hypertonia	51633	OTUD6B	OMIM:617452
HP:0001276	Hypertonia	51633	OTUD6B	ORPHA:505237
HP:0001276	Hypertonia	92609	TIMM50	OMIM:617698
HP:0001276	Hypertonia	116115	ZNF526	OMIM:619877
HP:0001276	Hypertonia	285175	UNC80	OMIM:616801
HP:0001276	Hypertonia	8021	NUP214	OMIM:618426
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:99735
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:99736
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:682
HP:0001276	Hypertonia	5428	POLG	OMIM:203700
HP:0001276	Hypertonia	5428	POLG	ORPHA:254892
HP:0001276	Hypertonia	11128	POLR3A	OMIM:264090
HP:0001276	Hypertonia	11128	POLR3A	ORPHA:3455
HP:0001276	Hypertonia	58	ACTA1	OMIM:161800
HP:0001276	Hypertonia	80704	SLC19A3	OMIM:607483
HP:0001276	Hypertonia	148789	B3GALNT2	ORPHA:588
HP:0001276	Hypertonia	79147	FKRP	ORPHA:588
HP:0001276	Hypertonia	9215	LARGE1	ORPHA:588
HP:0001276	Hypertonia	29954	POMT2	ORPHA:588
HP:0001276	Hypertonia	2218	FKTN	ORPHA:588
HP:0001276	Hypertonia	55624	POMGNT1	ORPHA:588
HP:0001276	Hypertonia	10585	POMT1	ORPHA:588
HP:0001276	Hypertonia	55719	SLF2	OMIM:620184
HP:0001276	Hypertonia	6558	SLC12A2	OMIM:619083
HP:0001276	Hypertonia	5551	PRF1	OMIM:603553
HP:0001276	Hypertonia	79718	TBL1XR1	OMIM:602342
HP:0001276	Hypertonia	4644	MYO5A	ORPHA:33445
HP:0001276	Hypertonia	4644	MYO5A	ORPHA:79476
HP:0001276	Hypertonia	2521	FUS	ORPHA:300605
HP:0001276	Hypertonia	80208	SPG11	ORPHA:300605
HP:0001276	Hypertonia	10280	SIGMAR1	ORPHA:300605
HP:0001276	Hypertonia	10558	SPTLC1	ORPHA:300605
HP:0001276	Hypertonia	57679	ALS2	ORPHA:300605
HP:0001276	Hypertonia	57679	ALS2	OMIM:205100
HP:0001276	Hypertonia	3800	KIF5C	OMIM:615282
HP:0001276	Hypertonia	2232	FDXR	ORPHA:543470
HP:0001276	Hypertonia	26227	PHGDH	OMIM:601815
HP:0001276	Hypertonia	26227	PHGDH	ORPHA:79351
HP:0001276	Hypertonia	59336	PRDM13	OMIM:619761
HP:0001276	Hypertonia	4285	MIPEP	OMIM:617228
HP:0001276	Hypertonia	773	CACNA1A	OMIM:617106
HP:0001276	Hypertonia	9409	PEX16	OMIM:614877
HP:0001276	Hypertonia	10297	APC2	OMIM:618677
HP:0001276	Hypertonia	64135	IFIH1	OMIM:615846
HP:0001276	Hypertonia	64135	IFIH1	ORPHA:51
HP:0001276	Hypertonia	9440	MED17	OMIM:613668
HP:0001276	Hypertonia	79971	WLS	OMIM:619648
HP:0001276	Hypertonia	1861	TOR1A	ORPHA:256
HP:0001276	Hypertonia	1861	TOR1A	OMIM:128100
HP:0001276	Hypertonia	1861	TOR1A	OMIM:618947
HP:0001276	Hypertonia	55164	SHQ1	ORPHA:256
HP:0001276	Hypertonia	5092	PCBD1	OMIM:264070
HP:0001276	Hypertonia	5092	PCBD1	ORPHA:1578
HP:0001276	Hypertonia	4677	NARS1	OMIM:619091
HP:0001276	Hypertonia	4677	NARS1	OMIM:619092
HP:0001276	Hypertonia	55275	VPS53	OMIM:615851
HP:0001276	Hypertonia	25836	NIPBL	OMIM:122470
HP:0001276	Hypertonia	25836	NIPBL	ORPHA:199
HP:0001276	Hypertonia	2720	GLB1	OMIM:230500
HP:0001276	Hypertonia	2146	EZH2	OMIM:277590
HP:0001276	Hypertonia	2146	EZH2	ORPHA:3447
HP:0001276	Hypertonia	5663	PSEN1	ORPHA:1020
HP:0001276	Hypertonia	5664	PSEN2	ORPHA:1020
HP:0001276	Hypertonia	10452	TOMM40	ORPHA:1020
HP:0001276	Hypertonia	351	APP	ORPHA:1020
HP:0001276	Hypertonia	54209	TREM2	ORPHA:1020
HP:0001276	Hypertonia	10347	ABCA7	ORPHA:1020
HP:0001276	Hypertonia	6653	SORL1	ORPHA:1020
HP:0001276	Hypertonia	404672	GTF2H5	ORPHA:33364
HP:0001276	Hypertonia	404672	GTF2H5	OMIM:616395
HP:0001276	Hypertonia	833	CARS1	ORPHA:33364
HP:0001276	Hypertonia	2068	ERCC2	ORPHA:33364
HP:0001276	Hypertonia	2068	ERCC2	ORPHA:1466
HP:0001276	Hypertonia	7737	RNF113A	ORPHA:33364
HP:0001276	Hypertonia	136647	MPLKIP	ORPHA:33364
HP:0001276	Hypertonia	6897	TARS1	ORPHA:33364
HP:0001276	Hypertonia	2071	ERCC3	ORPHA:33364
HP:0001276	Hypertonia	2961	GTF2E2	ORPHA:33364
HP:0001276	Hypertonia	10195	ALG3	ORPHA:79321
HP:0001276	Hypertonia	10195	ALG3	OMIM:601110
HP:0001276	Hypertonia	51750	RTEL1	ORPHA:3322
HP:0001276	Hypertonia	65057	ACD	ORPHA:3322
HP:0001276	Hypertonia	5073	PARN	ORPHA:3322
HP:0001276	Hypertonia	7015	TERT	ORPHA:3322
HP:0001276	Hypertonia	26277	TINF2	ORPHA:3322
HP:0001276	Hypertonia	26277	TINF2	OMIM:268130
HP:0001276	Hypertonia	1736	DKC1	ORPHA:3322
HP:0001276	Hypertonia	6509	SLC1A4	ORPHA:447997
HP:0001276	Hypertonia	9526	MPDU1	ORPHA:79323
HP:0001276	Hypertonia	9526	MPDU1	OMIM:609180
HP:0001276	Hypertonia	6843	VAMP1	ORPHA:251282
HP:0001276	Hypertonia	3339	HSPG2	ORPHA:800
HP:0001276	Hypertonia	64324	NSD1	ORPHA:3447
HP:0001276	Hypertonia	8726	EED	ORPHA:3447
HP:0001276	Hypertonia	23512	SUZ12	ORPHA:3447
HP:0001276	Hypertonia	28962	OSTM1	OMIM:259720
HP:0001276	Hypertonia	51645	PPIL1	OMIM:619301
HP:0001276	Hypertonia	51362	CDC40	OMIM:619302
HP:0001276	Hypertonia	3658	IREB2	OMIM:618451
HP:0001276	Hypertonia	2581	GALC	OMIM:245200
HP:0001276	Hypertonia	10243	GPHN	OMIM:615501
HP:0001276	Hypertonia	10243	GPHN	ORPHA:3197
HP:0001276	Hypertonia	10243	GPHN	OMIM:149400
HP:0001276	Hypertonia	57017	COQ9	OMIM:614654
HP:0001276	Hypertonia	27429	HTRA2	OMIM:617248
HP:0001276	Hypertonia	9445	ITM2B	OMIM:176500
HP:0001276	Hypertonia	10535	RNASEH2A	ORPHA:51
HP:0001276	Hypertonia	84153	RNASEH2C	ORPHA:51
HP:0001276	Hypertonia	25939	SAMHD1	ORPHA:51
HP:0001276	Hypertonia	79621	RNASEH2B	ORPHA:51
HP:0001276	Hypertonia	103	ADAR	ORPHA:51
HP:0001276	Hypertonia	103	ADAR	ORPHA:225154
HP:0001276	Hypertonia	11277	TREX1	ORPHA:51
HP:0001276	Hypertonia	100147744	RNU7-1	ORPHA:51
HP:0001276	Hypertonia	100147744	RNU7-1	OMIM:619487
HP:0001276	Hypertonia	134353	LSM11	ORPHA:51
HP:0001276	Hypertonia	8260	NAA10	ORPHA:276432
HP:0001276	Hypertonia	8260	NAA10	OMIM:300855
HP:0001276	Hypertonia	4001	LMNB1	ORPHA:99027
HP:0001276	Hypertonia	6513	SLC2A1	ORPHA:71277
HP:0001276	Hypertonia	6513	SLC2A1	OMIM:608885
HP:0001276	Hypertonia	6513	SLC2A1	ORPHA:168577
HP:0001276	Hypertonia	291	SLC25A4	ORPHA:254892
HP:0001276	Hypertonia	56652	TWNK	ORPHA:254892
HP:0001276	Hypertonia	11232	POLG2	ORPHA:254892
HP:0001276	Hypertonia	50484	RRM2B	ORPHA:254892
HP:0001276	Hypertonia	84706	GPT2	OMIM:616281
HP:0001276	Hypertonia	8243	SMC1A	OMIM:301044
HP:0001276	Hypertonia	8243	SMC1A	ORPHA:199
HP:0001276	Hypertonia	84894	LINGO1	OMIM:618103
HP:0001276	Hypertonia	10785	WDR4	OMIM:618346
HP:0001276	Hypertonia	10785	WDR4	ORPHA:2065
HP:0001276	Hypertonia	30000	TNPO2	OMIM:619556
HP:0001276	Hypertonia	54892	NCAPG2	OMIM:618460
HP:0001276	Hypertonia	1859	DYRK1A	ORPHA:268261
HP:0001276	Hypertonia	8573	CASK	OMIM:300749
HP:0001276	Hypertonia	23314	SATB2	ORPHA:251028
HP:0001276	Hypertonia	85476	GFM1	OMIM:609060
HP:0001276	Hypertonia	6334	SCN8A	ORPHA:306
HP:0001276	Hypertonia	6326	SCN2A	ORPHA:306
HP:0001276	Hypertonia	112476	PRRT2	ORPHA:306
HP:0001276	Hypertonia	3785	KCNQ2	ORPHA:306
HP:0001276	Hypertonia	3786	KCNQ3	ORPHA:306
HP:0001276	Hypertonia	5309	PITX3	OMIM:610623
HP:0001276	Hypertonia	6571	SLC18A2	ORPHA:352649
HP:0001276	Hypertonia	170302	ARX	OMIM:308350
HP:0001276	Hypertonia	170302	ARX	ORPHA:3175
HP:0001276	Hypertonia	81570	CLPB	ORPHA:445038
HP:0001276	Hypertonia	4967	OGDH	ORPHA:31
HP:0001276	Hypertonia	56521	DNAJC12	OMIM:617384
HP:0001276	Hypertonia	23114	NFASC	OMIM:618356
HP:0001276	Hypertonia	6647	SOD1	OMIM:618598
HP:0001276	Hypertonia	10978	CLP1	ORPHA:411493
HP:0001276	Hypertonia	1806	DPYD	OMIM:274270
HP:0001276	Hypertonia	1806	DPYD	ORPHA:1675
HP:0001276	Hypertonia	23291	FBXW11	OMIM:618914
HP:0001276	Hypertonia	29968	PSAT1	OMIM:610992
HP:0001276	Hypertonia	29968	PSAT1	ORPHA:284417
HP:0001276	Hypertonia	5660	PSAP	OMIM:611722
HP:0001276	Hypertonia	3736	KCNA1	ORPHA:37612
HP:0001276	Hypertonia	5053	PAH	ORPHA:79254
HP:0001276	Hypertonia	23097	CDK19	OMIM:618916
HP:0001276	Hypertonia	2067	ERCC1	OMIM:610758
HP:0001276	Hypertonia	2067	ERCC1	ORPHA:1466
HP:0001276	Hypertonia	79068	FTO	OMIM:612938
HP:0001276	Hypertonia	4784	NFIX	OMIM:602535
HP:0001276	Hypertonia	65055	REEP1	ORPHA:101011
HP:0001276	Hypertonia	10588	MTHFS	OMIM:618367
HP:0001276	Hypertonia	63925	ZNF335	OMIM:615095
HP:0001276	Hypertonia	25915	NDUFAF3	OMIM:618240
HP:0001276	Hypertonia	25915	NDUFAF3	ORPHA:70474
HP:0001276	Hypertonia	2073	ERCC5	ORPHA:1466
HP:0001276	Hypertonia	23229	ARHGEF9	ORPHA:163985
HP:0001276	Hypertonia	23229	ARHGEF9	OMIM:300607
HP:0001276	Hypertonia	91137	SLC25A46	OMIM:616505
HP:0001276	Hypertonia	2138	EYA1	ORPHA:2792
HP:0001276	Hypertonia	5075	PAX1	ORPHA:2792
HP:0001276	Hypertonia	1737	DLAT	ORPHA:79244
HP:0001276	Hypertonia	128989	TANGO2	ORPHA:480864
HP:0001276	Hypertonia	91647	ATPAF2	OMIM:604273
HP:0001276	Hypertonia	6821	SUOX	OMIM:272300
HP:0001276	Hypertonia	5805	PTS	ORPHA:13
HP:0001276	Hypertonia	5805	PTS	OMIM:261640
HP:0001276	Hypertonia	538	ATP7A	ORPHA:565
HP:0001276	Hypertonia	538	ATP7A	OMIM:309400
HP:0001276	Hypertonia	27031	NPHP3	OMIM:267010
HP:0001276	Hypertonia	5903	RANBP2	ORPHA:88619
HP:0001276	Hypertonia	5903	RANBP2	OMIM:608033
HP:0001276	Hypertonia	2741	GLRA1	ORPHA:3197
HP:0001276	Hypertonia	2741	GLRA1	OMIM:149400
HP:0001276	Hypertonia	84896	ATAD1	ORPHA:3197
HP:0001276	Hypertonia	84896	ATAD1	OMIM:618011
HP:0001276	Hypertonia	11342	RNF13	OMIM:618379
HP:0001276	Hypertonia	11342	RNF13	ORPHA:544503
HP:0001276	Hypertonia	9451	EIF2AK3	OMIM:226980
HP:0001276	Hypertonia	8802	SUCLG1	ORPHA:17
HP:0001276	Hypertonia	26040	SETBP1	OMIM:616078
HP:0001276	Hypertonia	26040	SETBP1	ORPHA:798
HP:0001276	Hypertonia	3188	HNRNPH2	OMIM:300986
HP:0001276	Hypertonia	54664	TMEM106B	OMIM:617964
HP:0001276	Hypertonia	64374	SIL1	ORPHA:559
HP:0001276	Hypertonia	51763	INPP5K	ORPHA:559
HP:0001276	Hypertonia	220296	HEPACAM	OMIM:613925
HP:0001276	Hypertonia	5873	RAB27A	ORPHA:79477
HP:0001276	Hypertonia	23476	BRD4	ORPHA:199
HP:0001276	Hypertonia	9126	SMC3	ORPHA:199
HP:0001276	Hypertonia	55869	HDAC8	ORPHA:199
HP:0001276	Hypertonia	5885	RAD21	ORPHA:199
HP:0001276	Hypertonia	11212	PLPBP	OMIM:617290
HP:0001276	Hypertonia	6197	RPS6KA3	ORPHA:192
HP:0001276	Hypertonia	55697	VAC14	OMIM:617054
HP:0001276	Hypertonia	51501	HIKESHI	OMIM:616881
HP:0001276	Hypertonia	6711	SPTBN1	OMIM:619475
HP:0001276	Hypertonia	58494	JAM2	OMIM:618824
HP:0001276	Hypertonia	9927	MFN2	OMIM:609260
HP:0001276	Hypertonia	9894	TELO2	ORPHA:488642
HP:0001276	Hypertonia	25914	RTTN	ORPHA:468631
HP:0001276	Hypertonia	8405	SPOP	OMIM:618828
HP:0001276	Hypertonia	63895	PIEZO2	OMIM:108145
HP:0001276	Hypertonia	1528	CYB5A	ORPHA:621
HP:0001276	Hypertonia	1130	LYST	ORPHA:352723
HP:0001276	Hypertonia	4714	NDUFB8	ORPHA:70474
HP:0001276	Hypertonia	4720	NDUFS2	ORPHA:70474
HP:0001276	Hypertonia	9997	SCO2	ORPHA:70474
HP:0001276	Hypertonia	6834	SURF1	ORPHA:70474
HP:0001276	Hypertonia	10682	EBP	OMIM:300960
HP:0001276	Hypertonia	1718	DHCR24	ORPHA:35107
HP:0001276	Hypertonia	2571	GAD1	OMIM:619124
HP:0001276	Hypertonia	440138	ALG11	ORPHA:280071
HP:0001276	Hypertonia	200894	ARL13B	OMIM:612291
HP:0001276	Hypertonia	79143	MBOAT7	OMIM:617188
HP:0001276	Hypertonia	57688	ZSWIM6	OMIM:617865
HP:0001276	Hypertonia	2893	GRIA4	OMIM:617864
HP:0001276	Hypertonia	4976	OPA1	OMIM:616896
HP:0001276	Hypertonia	3832	KIF11	ORPHA:2526
HP:0001276	Hypertonia	4190	MDH1	OMIM:618959
HP:0001276	Hypertonia	57570	TRMT5	OMIM:616539
HP:0001276	Hypertonia	2593	GAMT	OMIM:612736
HP:0001276	Hypertonia	3516	RBPJ	ORPHA:974
HP:0001276	Hypertonia	4851	NOTCH1	ORPHA:974
HP:0001276	Hypertonia	57514	ARHGAP31	ORPHA:974
HP:0001276	Hypertonia	57572	DOCK6	ORPHA:974
HP:0001276	Hypertonia	285203	EOGT	ORPHA:974
HP:0001276	Hypertonia	54567	DLL4	ORPHA:974
HP:0001276	Hypertonia	113246	C12orf57	OMIM:218340
HP:0001276	Hypertonia	55691	FRMD4A	ORPHA:466688
HP:0001276	Hypertonia	23636	NUP62	ORPHA:225154
HP:0001276	Hypertonia	54888	NSUN2	OMIM:611091
HP:0001276	Hypertonia	3739	KCNA4	OMIM:618284
HP:0001276	Hypertonia	84231	TRAF7	OMIM:618164
HP:0001276	Hypertonia	100151683	RNU4ATAC	ORPHA:2636
HP:0001276	Hypertonia	85378	TUBGCP6	ORPHA:2518
HP:0001276	Hypertonia	27229	TUBGCP4	ORPHA:2518
HP:0001276	Hypertonia	10733	PLK4	ORPHA:2518
HP:0001276	Hypertonia	1968	EIF2S3	ORPHA:85282
HP:0001276	Hypertonia	4693	NDP	ORPHA:649
HP:0001276	Hypertonia	23529	CLCF1	ORPHA:1545
HP:0001276	Hypertonia	9244	CRLF1	ORPHA:1545
HP:0001276	Hypertonia	4860	PNP	ORPHA:760
HP:0001276	Hypertonia	9562	MINPP1	ORPHA:284339
HP:0001276	Hypertonia	3735	KARS1	OMIM:619147
HP:0001276	Hypertonia	5860	QDPR	OMIM:261630
HP:0001276	Hypertonia	51075	TMX2	OMIM:618730
HP:0001276	Hypertonia	1496	CTNNA2	OMIM:618174
HP:0001276	Hypertonia	35	ACADS	ORPHA:26792
HP:0001276	Hypertonia	221927	BRAT1	OMIM:618056
HP:0001276	Hypertonia	221927	BRAT1	OMIM:614498
HP:0001276	Hypertonia	54820	NDE1	OMIM:614019
HP:0001276	Hypertonia	9373	PLAA	OMIM:617527
HP:0001276	Hypertonia	51002	TPRKB	ORPHA:2065
HP:0001276	Hypertonia	84942	WDR73	ORPHA:2065
HP:0001276	Hypertonia	55644	OSGEP	ORPHA:2065
HP:0001276	Hypertonia	57122	NUP107	ORPHA:2065
HP:0001276	Hypertonia	55746	NUP133	ORPHA:2065
HP:0001276	Hypertonia	112858	TP53RK	ORPHA:2065
HP:0001276	Hypertonia	8270	LAGE3	ORPHA:2065
HP:0001276	Hypertonia	8942	KYNU	ORPHA:79155
HP:0001276	Hypertonia	8398	PLA2G6	OMIM:610217
HP:0001276	Hypertonia	2760	GM2A	OMIM:272750
HP:0001276	Hypertonia	84065	TMEM222	OMIM:619470
HP:0001276	Hypertonia	11340	EXOSC8	OMIM:616081
HP:0001276	Hypertonia	10617	STAMBP	OMIM:614261
HP:0001276	Hypertonia	51399	TRAPPC4	OMIM:618741
HP:0001276	Hypertonia	6659	SOX4	OMIM:618506
HP:0001276	Hypertonia	7355	SLC35A2	ORPHA:356961
HP:0001276	Hypertonia	84334	COA8	ORPHA:436271
HP:0001276	Hypertonia	84334	COA8	OMIM:619061
HP:0001276	Hypertonia	90624	LYRM7	OMIM:615838
HP:0001276	Hypertonia	5631	PRPS1	ORPHA:423479
HP:0001276	Hypertonia	60558	GUF1	OMIM:617065
HP:0001276	Hypertonia	387787	LIPT2	OMIM:617668
HP:0001276	Hypertonia	473	RERE	OMIM:616975
HP:0001276	Hypertonia	4010	LMX1B	ORPHA:495818
HP:0001276	Hypertonia	498	ATP5F1A	OMIM:620358
HP:0001276	Hypertonia	79944	L2HGDH	OMIM:236792
HP:0001276	Hypertonia	79944	L2HGDH	ORPHA:79314
HP:0001276	Hypertonia	2192	FBLN1	ORPHA:404451
HP:0001276	Hypertonia	2937	GSS	OMIM:266130
HP:0001276	Hypertonia	348	APOE	OMIM:607822
HP:0001276	Hypertonia	3899	AFF3	OMIM:619297
HP:0001276	Hypertonia	29960	MRM2	OMIM:618567
HP:0001276	Hypertonia	124454	EARS2	OMIM:614924
HP:0001276	Hypertonia	221692	PHACTR1	OMIM:618298
HP:0001276	Hypertonia	54808	DYM	ORPHA:239
HP:0001276	Hypertonia	4524	MTHFR	ORPHA:395
HP:0001276	Hypertonia	8367	H4C5	OMIM:619950
HP:0001276	Hypertonia	340533	NEXMIF	OMIM:300912
HP:0001276	Hypertonia	1183	CLCN4	OMIM:300114
HP:0001276	Hypertonia	1183	CLCN4	ORPHA:485350
HP:0001276	Hypertonia	23345	SYNE1	ORPHA:88644
HP:0001276	Hypertonia	1355	COX15	OMIM:615119
HP:0001276	Hypertonia	775	CACNA1C	OMIM:620029
HP:0001276	Hypertonia	4758	NEU1	ORPHA:93399
HP:0001276	Hypertonia	1161	ERCC8	ORPHA:90321
HP:0001276	Hypertonia	1161	ERCC8	ORPHA:90322
HP:0001276	Hypertonia	2072	ERCC4	ORPHA:90321
HP:0001276	Hypertonia	81790	RNF170	OMIM:619686
HP:0001276	Hypertonia	10908	PNPLA6	ORPHA:139480
HP:0001276	Hypertonia	5917	RARS1	ORPHA:438114
HP:0001276	Hypertonia	5917	RARS1	OMIM:616140
HP:0001276	Hypertonia	27102	EIF2AK1	OMIM:618878
HP:0001276	Hypertonia	3897	L1CAM	OMIM:303350
HP:0001276	Hypertonia	84340	GFM2	ORPHA:565624
HP:0001276	Hypertonia	816	CAMK2B	OMIM:617799
HP:0001276	Hypertonia	10342	TFG	OMIM:615658
HP:0001276	Hypertonia	51079	NDUFA13	OMIM:618249
HP:0001276	Hypertonia	85465	SELENOI	OMIM:618768
HP:0001276	Hypertonia	4361	MRE11	OMIM:604391
HP:0001276	Hypertonia	823	CAPN1	OMIM:616907
HP:0001276	Hypertonia	823	CAPN1	ORPHA:488594
HP:0001276	Hypertonia	57531	HACE1	ORPHA:464282
HP:0001276	Hypertonia	57531	HACE1	OMIM:616756
HP:0001276	Hypertonia	5277	PIGA	OMIM:300868
HP:0001276	Hypertonia	6304	SATB1	OMIM:619229
HP:0001276	Hypertonia	27010	TPK1	OMIM:614458
HP:0001276	Hypertonia	79152	FA2H	OMIM:612319
HP:0001276	Hypertonia	79152	FA2H	ORPHA:171629
HP:0001276	Hypertonia	4953	ODC1	OMIM:619075
HP:0001276	Hypertonia	91574	MTRFR	OMIM:615035
HP:0001276	Hypertonia	91574	MTRFR	ORPHA:320375
HP:0001276	Hypertonia	9354	UBE4A	OMIM:619639
HP:0001276	Hypertonia	22931	RAB18	OMIM:614222
HP:0001276	Hypertonia	27286	SRPX2	ORPHA:98889
HP:0001276	Hypertonia	26047	CNTNAP2	ORPHA:163681
HP:0001276	Hypertonia	79759	ZNF668	OMIM:620194
HP:0001276	Hypertonia	79796	ALG9	ORPHA:79328
HP:0001276	Hypertonia	25814	ATXN10	ORPHA:98761
HP:0001276	Hypertonia	57459	GATAD2B	ORPHA:363686
HP:0001276	Hypertonia	1615	DARS1	OMIM:615281
HP:0001276	Hypertonia	57038	RARS2	OMIM:611523
HP:0001276	Hypertonia	9338	TCEAL1	OMIM:301094
HP:0001276	Hypertonia	10667	FARS2	ORPHA:466722
HP:0001276	Hypertonia	23299	BICD2	OMIM:615290
HP:0001276	Hypertonia	6904	TBCD	OMIM:617193
HP:0001276	Hypertonia	4141	MARS1	ORPHA:401835
HP:0001276	Hypertonia	339855	KY	ORPHA:496689
HP:0001276	Hypertonia	131118	DNAJC19	ORPHA:66634
HP:0001276	Hypertonia	200403	VWA3B	OMIM:616948
HP:0001276	Hypertonia	85021	REPS1	OMIM:617916
HP:0001276	Hypertonia	27072	VPS41	OMIM:619389
HP:0001276	Hypertonia	84274	COQ5	OMIM:619028
HP:0001276	Hypertonia	2639	GCDH	ORPHA:25
HP:0001276	Hypertonia	2639	GCDH	OMIM:231670
HP:0001276	Hypertonia	6515	SLC2A3	ORPHA:399
HP:0001276	Hypertonia	51062	ATL1	ORPHA:100984
HP:0001276	Hypertonia	26058	GIGYF2	OMIM:607688
HP:0001276	Hypertonia	26058	GIGYF2	ORPHA:411602
HP:0001276	Hypertonia	4287	ATXN3	OMIM:109150
HP:0001276	Hypertonia	7384	UQCRC1	OMIM:619279
HP:0001276	Hypertonia	4311	MME	OMIM:617018
HP:0001276	Hypertonia	54832	VPS13C	OMIM:616840
HP:0001276	Hypertonia	54832	VPS13C	ORPHA:2828
HP:0001276	Hypertonia	9256	TSPOAP1	ORPHA:101150
HP:0001276	Hypertonia	7054	TH	ORPHA:101150
HP:0001276	Hypertonia	7054	TH	OMIM:605407
HP:0001276	Hypertonia	27235	COQ2	OMIM:146500
HP:0001276	Hypertonia	27235	COQ2	ORPHA:98933
HP:0001276	Hypertonia	27235	COQ2	ORPHA:227510
HP:0001276	Hypertonia	57165	GJC2	OMIM:608804
HP:0001276	Hypertonia	4016	LOXL1	OMIM:177650
HP:0001276	Hypertonia	1436	CSF1R	OMIM:618476
HP:0001276	Hypertonia	1436	CSF1R	OMIM:221820
HP:0001276	Hypertonia	51741	WWOX	OMIM:616211
HP:0001276	Hypertonia	51741	WWOX	ORPHA:442835
HP:0001276	Hypertonia	6311	ATXN2	OMIM:183090
HP:0001276	Hypertonia	6311	ATXN2	OMIM:168600
HP:0001276	Hypertonia	80347	COASY	OMIM:615643
HP:0001276	Hypertonia	10501	SEMA6B	OMIM:618876
HP:0001276	Hypertonia	137682	NDUFAF6	OMIM:618239
HP:0001276	Hypertonia	3939	LDHA	OMIM:612933
HP:0001276	Hypertonia	11152	WDR45	ORPHA:329284
HP:0001276	Hypertonia	11152	WDR45	OMIM:300894
HP:0001276	Hypertonia	9829	DNAJC6	OMIM:615528
HP:0001276	Hypertonia	9829	DNAJC6	ORPHA:2828
HP:0001276	Hypertonia	9829	DNAJC6	ORPHA:391411
HP:0001276	Hypertonia	5071	PRKN	OMIM:600116
HP:0001276	Hypertonia	5071	PRKN	ORPHA:2828
HP:0001276	Hypertonia	23732	FRRS1L	OMIM:616981
HP:0001276	Hypertonia	8867	SYNJ1	OMIM:615530
HP:0001276	Hypertonia	8867	SYNJ1	ORPHA:2828
HP:0001276	Hypertonia	8867	SYNJ1	ORPHA:442835
HP:0001276	Hypertonia	8867	SYNJ1	ORPHA:391411
HP:0001276	Hypertonia	55572	FOXRED1	OMIM:618241
HP:0001276	Hypertonia	7343	UBTF	OMIM:617672
HP:0001276	Hypertonia	55037	PTCD3	OMIM:619057
HP:0001276	Hypertonia	55737	VPS35	OMIM:614203
HP:0001276	Hypertonia	55737	VPS35	ORPHA:411602
HP:0001276	Hypertonia	8622	PDE8B	OMIM:609161
HP:0001276	Hypertonia	8622	PDE8B	ORPHA:228169
HP:0001276	Hypertonia	79947	DHDDS	OMIM:617836
HP:0001276	Hypertonia	79947	DHDDS	ORPHA:442835
HP:0001276	Hypertonia	23317	DNAJC13	ORPHA:411602
HP:0001276	Hypertonia	1981	EIF4G1	ORPHA:411602
HP:0001276	Hypertonia	1981	EIF4G1	OMIM:614251
HP:0001276	Hypertonia	120892	LRRK2	ORPHA:411602
HP:0001276	Hypertonia	120892	LRRK2	ORPHA:2828
HP:0001276	Hypertonia	120892	LRRK2	OMIM:607060
HP:0001276	Hypertonia	6622	SNCA	ORPHA:411602
HP:0001276	Hypertonia	6622	SNCA	ORPHA:2828
HP:0001276	Hypertonia	6622	SNCA	ORPHA:171695
HP:0001276	Hypertonia	6622	SNCA	OMIM:168601
HP:0001276	Hypertonia	6575	SLC20A2	OMIM:213600
HP:0001276	Hypertonia	5155	PDGFB	OMIM:213600
HP:0001276	Hypertonia	5159	PDGFRB	OMIM:213600
HP:0001276	Hypertonia	1509	CTSD	OMIM:610127
HP:0001276	Hypertonia	116442	RAB39B	OMIM:311510
HP:0001276	Hypertonia	116442	RAB39B	ORPHA:2379
HP:0001276	Hypertonia	2332	FMR1	ORPHA:93256
HP:0001276	Hypertonia	51102	MECR	OMIM:617282
HP:0001276	Hypertonia	11315	PARK7	OMIM:606324
HP:0001276	Hypertonia	11315	PARK7	ORPHA:2828
HP:0001276	Hypertonia	80856	LNPK	OMIM:618090
HP:0001276	Hypertonia	80821	DDHD1	ORPHA:101008
HP:0001276	Hypertonia	7345	UCHL1	OMIM:613643
HP:0001276	Hypertonia	7345	UCHL1	ORPHA:2828
HP:0001276	Hypertonia	5420	PODXL	ORPHA:2828
HP:0001276	Hypertonia	5420	PODXL	ORPHA:391411
HP:0001276	Hypertonia	65018	PINK1	ORPHA:2828
HP:0001276	Hypertonia	65018	PINK1	OMIM:605909
HP:0001276	Hypertonia	3737	KCNA2	ORPHA:442835
HP:0001276	Hypertonia	1759	DNM1	ORPHA:442835
HP:0001276	Hypertonia	8120	AP3B2	ORPHA:442835
HP:0001276	Hypertonia	523	ATP6V1A	ORPHA:442835
HP:0001276	Hypertonia	10991	SLC38A3	ORPHA:442835
HP:0001276	Hypertonia	51343	FZR1	ORPHA:442835
HP:0001276	Hypertonia	22906	TRAK1	ORPHA:442835
HP:0001276	Hypertonia	2566	GABRG2	ORPHA:442835
HP:0001276	Hypertonia	2566	GABRG2	ORPHA:33069
HP:0001276	Hypertonia	1917	EEF1A2	ORPHA:442835
HP:0001276	Hypertonia	2561	GABRB2	ORPHA:442835
HP:0001276	Hypertonia	8831	SYNGAP1	ORPHA:442835
HP:0001276	Hypertonia	7532	YWHAG	ORPHA:442835
HP:0001276	Hypertonia	79876	UBA5	ORPHA:442835
HP:0001276	Hypertonia	6328	SCN3A	ORPHA:442835
HP:0001276	Hypertonia	2558	GABRA5	ORPHA:442835
HP:0001276	Hypertonia	781	CACNA2D1	ORPHA:442835
HP:0001276	Hypertonia	2906	GRIN2D	ORPHA:442835
HP:0001276	Hypertonia	116150	NUS1	ORPHA:442835
HP:0001276	Hypertonia	10659	CELF2	ORPHA:442835
HP:0001276	Hypertonia	774	CACNA1B	ORPHA:442835
HP:0001276	Hypertonia	1213	CLTC	ORPHA:442835
HP:0001276	Hypertonia	23334	SZT2	ORPHA:442835
HP:0001276	Hypertonia	51412	ACTL6B	ORPHA:442835
HP:0001276	Hypertonia	348980	HCN1	ORPHA:442835
HP:0001276	Hypertonia	6506	SLC1A2	ORPHA:442835
HP:0001276	Hypertonia	2258	FGF13	ORPHA:442835
HP:0001276	Hypertonia	477	ATP1A2	ORPHA:442835
HP:0001276	Hypertonia	477	ATP1A2	ORPHA:2131
HP:0001276	Hypertonia	3745	KCNB1	ORPHA:442835
HP:0001276	Hypertonia	284111	SLC13A5	ORPHA:442835
HP:0001276	Hypertonia	25977	NECAP1	ORPHA:442835
HP:0001276	Hypertonia	16	AARS1	ORPHA:442835
HP:0001276	Hypertonia	16	AARS1	OMIM:619661
HP:0001276	Hypertonia	22866	CNKSR2	ORPHA:442835
HP:0001276	Hypertonia	9568	GABBR2	ORPHA:442835
HP:0001276	Hypertonia	2555	GABRA2	ORPHA:442835
HP:0001276	Hypertonia	55152	DALRD3	ORPHA:442835
HP:0001276	Hypertonia	26999	CYFIP2	ORPHA:442835
HP:0001276	Hypertonia	4915	NTRK2	ORPHA:442835
HP:0001276	Hypertonia	25973	PARS2	ORPHA:442835
HP:0001276	Hypertonia	64801	ARV1	ORPHA:442835
HP:0001276	Hypertonia	2257	FGF12	ORPHA:442835
HP:0001276	Hypertonia	5530	PPP3CA	ORPHA:442835
HP:0001276	Hypertonia	478	ATP1A3	ORPHA:442835
HP:0001276	Hypertonia	478	ATP1A3	ORPHA:2131
HP:0001276	Hypertonia	10382	TUBB4A	OMIM:612438
HP:0001276	Hypertonia	6908	TBP	OMIM:607136
HP:0001276	Hypertonia	6908	TBP	ORPHA:98759
HP:0001276	Hypertonia	6908	TBP	OMIM:168600
HP:0001276	Hypertonia	25953	PNKD	ORPHA:98810
HP:0001276	Hypertonia	57338	JPH3	OMIM:606438
HP:0001276	Hypertonia	5654	HTRA1	ORPHA:199354
HP:0001276	Hypertonia	5654	HTRA1	OMIM:600142
HP:0001276	Hypertonia	339453	TMEM240	ORPHA:98773
HP:0001276	Hypertonia	26154	ABCA12	OMIM:242500
HP:0001276	Hypertonia	4204	MECP2	OMIM:300673
HP:0001276	Hypertonia	4204	MECP2	OMIM:300260
HP:0001276	Hypertonia	2512	FTL	OMIM:606159
HP:0001276	Hypertonia	23259	DDHD2	OMIM:615033
HP:0001276	Hypertonia	2643	GCH1	ORPHA:98808
HP:0001276	Hypertonia	2643	GCH1	OMIM:233910
HP:0001276	Hypertonia	4929	NR4A2	ORPHA:98808
HP:0001276	Hypertonia	4929	NR4A2	OMIM:619911
HP:0001276	Hypertonia	4929	NR4A2	OMIM:168600
HP:0001276	Hypertonia	3615	IMPDH2	ORPHA:98808
HP:0001276	Hypertonia	6507	SLC1A3	ORPHA:2131
HP:0001276	Hypertonia	6335	SCN9A	ORPHA:33069
HP:0001276	Hypertonia	2554	GABRA1	ORPHA:33069
HP:0001276	Hypertonia	6323	SCN1A	ORPHA:33069
HP:0001276	Hypertonia	6324	SCN1B	ORPHA:33069
HP:0001276	Hypertonia	57526	PCDH19	ORPHA:33069
HP:0001276	Hypertonia	5582	PRKCG	ORPHA:98763
HP:0001276	Hypertonia	80025	PANK2	OMIM:234200
HP:0001276	Hypertonia	80025	PANK2	ORPHA:216873
HP:0001276	Hypertonia	6609	SMPD1	OMIM:257200
HP:0001276	Hypertonia	6697	SPR	ORPHA:70594
HP:0001276	Hypertonia	2670	GFAP	ORPHA:363722
HP:0001276	Hypertonia	128240	NAXE	OMIM:617186
HP:0001276	Hypertonia	1356	CP	ORPHA:48818
HP:0001276	Hypertonia	540	ATP7B	OMIM:277900
HP:0001276	Hypertonia	6261	RYR1	OMIM:145600
HP:0001276	Hypertonia	25978	CHMP2B	OMIM:600795
HP:0001276	Hypertonia	10273	STUB1	ORPHA:412057
HP:0001276	Hypertonia	51308	REEP2	ORPHA:401849
HP:0001276	Hypertonia	10159	ATP6AP2	OMIM:300423
HP:0001276	Hypertonia	25793	FBXO7	ORPHA:171695
HP:0001276	Hypertonia	25793	FBXO7	OMIM:260300
HP:0001276	Hypertonia	51142	CHCHD2	OMIM:616710
HP:0001276	Hypertonia	2747	GLUD2	OMIM:168600
HP:0001276	Hypertonia	126	ADH1C	OMIM:168600
HP:0001276	Hypertonia	4576	MT-TT	OMIM:168600
HP:0001276	Hypertonia	9627	SNCAIP	OMIM:168600
HP:0001276	Hypertonia	1639	DCTN1	OMIM:168605
HP:0001276	Hypertonia	9897	WASHC5	ORPHA:100989
HP:0001276	Hypertonia	9897	WASHC5	OMIM:603563
HP:0001276	Hypertonia	324	APC	ORPHA:261584
HP:0001276	Hypertonia	5354	PLP1	ORPHA:99015
HP:0001276	Hypertonia	5354	PLP1	OMIM:312920
HP:0001276	Hypertonia	123606	NIPA1	OMIM:600363
HP:0001276	Hypertonia	57156	TMEM63C	OMIM:619966
HP:0001276	Hypertonia	547	KIF1A	OMIM:610357
HP:0001276	Hypertonia	547	KIF1A	ORPHA:101010
HP:0001276	Hypertonia	9197	SLC33A1	OMIM:612539
HP:0001276	Hypertonia	9197	SLC33A1	ORPHA:171863
HP:0001276	Hypertonia	10166	SLC25A15	ORPHA:415
HP:0001276	Hypertonia	10166	SLC25A15	OMIM:238970
HP:0001276	Hypertonia	51204	TACO1	OMIM:619052
HP:0001276	Hypertonia	215	ABCD1	ORPHA:139399
HP:0001276	Hypertonia	118813	ZFYVE27	OMIM:610244
HP:0001276	Hypertonia	25778	DSTYK	ORPHA:101003
HP:0001276	Hypertonia	9420	CYP7B1	OMIM:270800
HP:0001276	Hypertonia	57599	WDR48	ORPHA:401800
HP:0001276	Hypertonia	55703	POLR3B	OMIM:619742
HP:0001276	Hypertonia	9907	AP5Z1	OMIM:613647
HP:0001276	Hypertonia	9907	AP5Z1	ORPHA:306511
HP:0001276	Hypertonia	9895	TECPR2	OMIM:615031
HP:0001276	Hypertonia	340075	ARSI	ORPHA:401815
HP:0001276	Hypertonia	57498	KIDINS220	OMIM:617296
HP:0001276	Hypertonia	84879	MFSD2A	OMIM:616486
HP:0001276	Hypertonia	2517	FUCA1	OMIM:230000
HP:0001276	Hypertonia	80232	WDR26	OMIM:617616
HP:0001276	Hypertonia	10613	ERLIN1	ORPHA:401785
HP:0001276	Hypertonia	10613	ERLIN1	OMIM:615681
HP:0001276	Hypertonia	23503	ZFYVE26	OMIM:270700
HP:0001276	Hypertonia	55210	ATAD3A	ORPHA:496790
HP:0001276	Hypertonia	22978	NT5C2	ORPHA:320396
HP:0001276	Hypertonia	22978	NT5C2	OMIM:613162
HP:0001276	Hypertonia	6472	SHMT2	OMIM:619121
HP:0001276	Hypertonia	6253	RTN2	OMIM:604805
HP:0001276	Hypertonia	6253	RTN2	ORPHA:100993
HP:0001276	Hypertonia	26278	SACS	OMIM:270550
HP:0001276	Hypertonia	9101	USP8	ORPHA:401795
HP:0001276	Hypertonia	8913	CACNA1G	ORPHA:458803
HP:0001276	Hypertonia	8913	CACNA1G	OMIM:616795
HP:0001276	Hypertonia	3329	HSPD1	OMIM:605280
HP:0001276	Hypertonia	3329	HSPD1	ORPHA:100994
HP:0001276	Hypertonia	383	ARG1	OMIM:207800
HP:0001276	Hypertonia	7415	VCP	ORPHA:329475
HP:0001276	Hypertonia	6683	SPAST	OMIM:182601
HP:0001276	Hypertonia	26580	BSCL2	OMIM:270685
HP:0001276	Hypertonia	26580	BSCL2	ORPHA:100998
HP:0001276	Hypertonia	51663	ZFR	ORPHA:401840
HP:0001276	Hypertonia	51271	UBAP1	ORPHA:100993
HP:0001276	Hypertonia	126129	CPT1C	ORPHA:444099
HP:0001276	Hypertonia	3839	KPNA3	ORPHA:171612
HP:0001276	Hypertonia	113612	CYP2U1	ORPHA:320411
HP:0001276	Hypertonia	22948	CCT5	OMIM:256840
HP:0001276	Hypertonia	2583	B4GALNT1	OMIM:609195
HP:0001276	Hypertonia	3798	KIF5A	OMIM:604187
HP:0001276	Hypertonia	158	ADSL	OMIM:103050
HP:0001276	Hypertonia	443	ASPA	OMIM:271900
HP:0001276	Hypertonia	3747	KCNC2	OMIM:619913
HP:0001276	Hypertonia	4337	MOCS1	OMIM:252150
HP:0001276	Hypertonia	3251	HPRT1	OMIM:300322
HP:0001276	Hypertonia	55610	VPS50	OMIM:619685
HP:0001276	Hypertonia	51506	UFC1	OMIM:618076
HP:0001276	Hypertonia	7358	UGDH	OMIM:618792
HP:0001276	Hypertonia	7284	TUFM	OMIM:610678
HP:0001276	Hypertonia	7143	TNR	OMIM:619653
HP:0001276	Hypertonia	5455	POU3F3	OMIM:618604
HP:0001276	Hypertonia	2902	GRIN1	OMIM:619814
HP:0001276	Hypertonia	64087	MCCC2	OMIM:210210
HP:0001276	Hypertonia	2898	GRIK2	OMIM:619580
HP:0001276	Hypertonia	27247	NFU1	OMIM:605711
HP:0001276	Hypertonia	132158	GLYCTK	OMIM:220120
HP:0001276	Hypertonia	79587	CARS2	OMIM:616672
HP:0001276	Hypertonia	80199	FUZ	ORPHA:1136
HP:0001276	Hypertonia	56922	MCCC1	OMIM:210200
HP:0001276	Hypertonia	129685	TAF8	OMIM:619972
HP:0001276	Hypertonia	84504	NKX6-2	ORPHA:527497
HP:0001276	Hypertonia	10943	MSL3	OMIM:301032
HP:0001276	Hypertonia	84265	POLR3GL	OMIM:619234
HP:0001276	Hypertonia	1593	CYP27A1	ORPHA:909
HP:0001276	Hypertonia	54902	TTC19	OMIM:615157
HP:0001276	Hypertonia	9255	AIMP1	OMIM:260600
HP:0001276	Hypertonia	3425	IDUA	ORPHA:93474
HP:0001276	Hypertonia	3425	IDUA	ORPHA:93473
HP:0001276	Hypertonia	54880	BCOR	OMIM:300166
HP:0001276	Hypertonia	440193	CCDC88C	OMIM:616053
HP:0001276	Hypertonia	440193	CCDC88C	ORPHA:423275
HP:0001276	Hypertonia	80207	OPA3	ORPHA:67047
HP:0001276	Hypertonia	125988	MICOS13	ORPHA:67047
HP:0001276	Hypertonia	1910	EDNRB	OMIM:277580
HP:0001276	Hypertonia	93587	TRMT10A	ORPHA:391408
HP:0001276	Hypertonia	84919	PPP1R15B	ORPHA:391408
HP:0001276	Hypertonia	2806	GOT2	OMIM:618721
HP:0001276	Hypertonia	686	BTD	ORPHA:79241
HP:0001276	Hypertonia	23389	MED13L	ORPHA:369891
HP:0001276	Hypertonia	7276	TTR	OMIM:105210
HP:0001276	Hypertonia	2697	GJA1	ORPHA:2710
HP:0001276	Hypertonia	224	ALDH3A2	OMIM:270200
HP:0001276	Hypertonia	58497	PRUNE1	ORPHA:544469
HP:0001276	Hypertonia	3752	KCND3	ORPHA:98772
HP:0001276	Hypertonia	3752	KCND3	OMIM:607346
HP:0001276	Hypertonia	7084	TK2	ORPHA:254886
HP:0001276	Hypertonia	1600	DAB1	ORPHA:363710
HP:0001276	Hypertonia	3781	KCNN2	OMIM:619725
HP:0001276	Hypertonia	25782	RAB3GAP2	ORPHA:401830
HP:0001276	Hypertonia	5621	PRNP	ORPHA:282166
HP:0001276	Hypertonia	9179	AP4M1	ORPHA:280763
HP:0001276	Hypertonia	23431	AP4E1	ORPHA:280763
HP:0001276	Hypertonia	87178	PNPT1	ORPHA:101111
HP:0001276	Hypertonia	4099	MAG	OMIM:616680
HP:0001276	Hypertonia	4137	MAPT	ORPHA:240094
HP:0001276	Hypertonia	57704	GBA2	ORPHA:352641
HP:0001276	Hypertonia	57704	GBA2	ORPHA:320391
HP:0001276	Hypertonia	55775	TDP1	ORPHA:94124
HP:0001276	Hypertonia	5190	PEX6	ORPHA:95433
HP:0001276	Hypertonia	92935	MARS2	ORPHA:314603
HP:0001276	Hypertonia	5832	ALDH18A1	ORPHA:447757
HP:0001276	Hypertonia	5832	ALDH18A1	ORPHA:447753
HP:0001276	Hypertonia	11160	ERLIN2	ORPHA:247604
HP:0001276	Hypertonia	10939	AFG3L2	ORPHA:313772
HP:0001276	Hypertonia	84188	FAR1	ORPHA:447753
HP:0001276	Hypertonia	724066	ATXN8	ORPHA:98760
HP:0001276	Hypertonia	6315	ATXN8OS	ORPHA:98760
HP:0001276	Hypertonia	23111	SPART	ORPHA:101000
HP:0001276	Hypertonia	6687	SPG7	ORPHA:35689
HP:0001276	Hypertonia	2705	GJB1	ORPHA:1175
HP:0001276	Hypertonia	492	ATP2B3	ORPHA:314978
HP:0001276	Hypertonia	410	ARSA	ORPHA:309271
HP:0001276	Hypertonia	54	ACP5	OMIM:607944
HP:0001276	Hypertonia	133686	NADK2	ORPHA:431361
HP:0001276	Hypertonia	5048	PAFAH1B1	ORPHA:95232
HP:0001276	Hypertonia	26128	KIFBP	OMIM:609460
HP:0001276	Hypertonia	3098	HK1	OMIM:618547
HP:0001276	Hypertonia	55325	UFSP2	OMIM:620028
HP:0001276	Hypertonia	80222	TARS2	OMIM:615918
HP:0001276	Hypertonia	111	ADCY5	OMIM:606703
HP:0001276	Hypertonia	111	ADCY5	ORPHA:324588
HP:0001276	Hypertonia	2972	BRF1	ORPHA:444072
HP:0001276	Hypertonia	9578	CDC42BPB	OMIM:619841
HP:0001276	Hypertonia	10300	KATNB1	OMIM:616212
HP:0001276	Hypertonia	2782	GNB1	ORPHA:488613
HP:0001276	Hypertonia	2782	GNB1	OMIM:616973
HP:0001276	Hypertonia	23310	NCAPD3	OMIM:617984
HP:0001276	Hypertonia	1644	DDC	OMIM:608643
HP:0001276	Hypertonia	23065	EMC1	ORPHA:480898
HP:0001276	Hypertonia	23065	EMC1	OMIM:616875
HP:0001276	Hypertonia	60386	SLC25A19	OMIM:607196
HP:0001276	Hypertonia	60386	SLC25A19	ORPHA:99742
HP:0001276	Hypertonia	55252	ASXL2	OMIM:617190
HP:0001276	Hypertonia	1725	DHPS	OMIM:618480
HP:0001276	Hypertonia	25839	COG4	ORPHA:263501
HP:0001276	Hypertonia	25839	COG4	OMIM:613489
HP:0001276	Hypertonia	4718	NDUFC2	OMIM:619170
HP:0001276	Hypertonia	23221	RHOBTB2	OMIM:618004
HP:0001276	Hypertonia	10463	SLC30A9	OMIM:617595
HP:0001276	Hypertonia	51227	PIGP	OMIM:617599
HP:0001276	Hypertonia	29920	PYCR2	ORPHA:481152
HP:0001276	Hypertonia	2917	GRM7	OMIM:618922
HP:0001276	Hypertonia	5095	PCCA	OMIM:606054
HP:0001276	Hypertonia	5096	PCCB	OMIM:606054
HP:0001276	Hypertonia	23141	ANKLE2	OMIM:616681
HP:0001276	Hypertonia	776	CACNA1D	OMIM:615474
HP:0001276	Hypertonia	56945	MRPS22	OMIM:611719
HP:0001276	Hypertonia	1193	CLIC2	OMIM:300886
HP:0001276	Hypertonia	1193	CLIC2	ORPHA:324410
HP:0001276	Hypertonia	6567	SLC16A2	OMIM:300523
HP:0001276	Hypertonia	6567	SLC16A2	ORPHA:59
HP:0001276	Hypertonia	29078	NDUFAF4	OMIM:618237
HP:0001276	Hypertonia	7846	TUBA1A	OMIM:611603
HP:0001276	Hypertonia	79709	COLGALT1	OMIM:618360
HP:0001276	Hypertonia	535	ATP6V0A1	OMIM:619971
HP:0001276	Hypertonia	22796	COG2	OMIM:617395
HP:0001276	Hypertonia	22796	COG2	ORPHA:435934
HP:0001276	Hypertonia	7283	TUBG1	OMIM:615412
HP:0001276	Hypertonia	79029	AFG2B	OMIM:619616
HP:0001276	Hypertonia	6709	SPTAN1	OMIM:613477
HP:0001276	Hypertonia	1778	DYNC1H1	OMIM:614563
HP:0001276	Hypertonia	3796	KIF2A	OMIM:615411
HP:0001276	Hypertonia	170825	GSX2	OMIM:618646
HP:0001276	Hypertonia	8560	DEGS1	OMIM:618404
HP:0001276	Hypertonia	259232	NALCN	OMIM:615419
HP:0001276	Hypertonia	259232	NALCN	ORPHA:371364
HP:0001276	Hypertonia	549	AUH	OMIM:250950
HP:0001276	Hypertonia	23258	DENND5A	OMIM:617281
HP:0001276	Hypertonia	128637	TBC1D20	OMIM:615663
HP:0001276	Hypertonia	6785	ELOVL4	OMIM:614457
HP:0001276	Hypertonia	6905	TBCE	OMIM:617207
HP:0001276	Hypertonia	11019	LIAS	OMIM:614462
HP:0001276	Hypertonia	56978	PRDM8	OMIM:616640
HP:0001276	Hypertonia	6812	STXBP1	OMIM:612164
HP:0001276	Hypertonia	56270	WDR45B	OMIM:617977
HP:0001276	Hypertonia	51611	DPH5	OMIM:620070
HP:0001276	Hypertonia	5700	PSMC1	OMIM:620071
HP:0001276	Hypertonia	90522	YIF1B	OMIM:619125
HP:0001276	Hypertonia	55739	NAXD	OMIM:618321
HP:0001276	Hypertonia	440	ASNS	OMIM:615574
HP:0001276	Hypertonia	777	CACNA1E	OMIM:618285
HP:0001276	Hypertonia	1284	COL4A2	OMIM:614483
HP:0001276	Hypertonia	64919	BCL11B	OMIM:617237
HP:0001276	Hypertonia	51294	PCDH12	OMIM:251280
HP:0001276	Hypertonia	23189	KANK1	OMIM:612900
HP:0001276	Hypertonia	2055	CLN8	ORPHA:1947
HP:0001276	Hypertonia	57192	MCOLN1	OMIM:252650
HP:0001276	Hypertonia	55770	EXOC2	OMIM:619306
HP:0001276	Hypertonia	10695	CNPY3	OMIM:617929
HP:0001276	Hypertonia	56006	SMG9	OMIM:619995
HP:0001276	Hypertonia	546	ATRX	OMIM:309580
HP:0001276	Hypertonia	55149	MTPAP	OMIM:613672
HP:0001276	Hypertonia	55149	MTPAP	ORPHA:254343
HP:0001276	Hypertonia	6390	SDHB	ORPHA:3208
HP:0001276	Hypertonia	6392	SDHD	ORPHA:3208
HP:0001276	Hypertonia	644096	SDHAF1	ORPHA:3208
HP:0001276	Hypertonia	7994	KAT6A	OMIM:616268
HP:0001276	Hypertonia	54834	GDAP2	OMIM:618369
HP:0001276	Hypertonia	3930	LBR	OMIM:169400
HP:0001276	Hypertonia	23028	KDM1A	OMIM:616728
HP:0001276	Hypertonia	23028	KDM1A	ORPHA:477993
HP:0001276	Hypertonia	171023	ASXL1	ORPHA:97297
HP:0001276	Hypertonia	116461	TSEN15	ORPHA:2524
HP:0001276	Hypertonia	79042	TSEN34	ORPHA:2524
HP:0001276	Hypertonia	80746	TSEN2	ORPHA:2524
HP:0001276	Hypertonia	51091	SEPSECS	ORPHA:2524
HP:0001276	Hypertonia	5010	CLDN11	OMIM:619328
HP:0001276	Hypertonia	137492	VPS37A	OMIM:614898
HP:0001276	Hypertonia	55343	SLC35C1	ORPHA:99843
HP:0001276	Hypertonia	6389	SDHA	ORPHA:255241
HP:0001276	Hypertonia	91942	NDUFAF2	ORPHA:255241
HP:0001276	Hypertonia	4723	NDUFV1	ORPHA:255241
HP:0001276	Hypertonia	4729	NDUFV2	ORPHA:255241
HP:0001276	Hypertonia	55967	NDUFA12	ORPHA:255241
HP:0001276	Hypertonia	4724	NDUFS4	ORPHA:255241
HP:0001276	Hypertonia	4728	NDUFS8	ORPHA:255241
HP:0001276	Hypertonia	4722	NDUFS3	ORPHA:255241
HP:0001276	Hypertonia	79133	NDUFAF5	ORPHA:255241
HP:0001276	Hypertonia	5160	PDHA1	ORPHA:255241
HP:0001276	Hypertonia	100131801	PET100	ORPHA:255241
HP:0001276	Hypertonia	1892	ECHS1	ORPHA:255241
HP:0001276	Hypertonia	123263	MTFMT	ORPHA:255241
HP:0001276	Hypertonia	374291	NDUFS7	ORPHA:255241
HP:0001276	Hypertonia	4705	NDUFA10	ORPHA:255241
HP:0001276	Hypertonia	51601	LIPT1	ORPHA:255241
HP:0001276	Hypertonia	4719	NDUFS1	ORPHA:255241
HP:0001276	Hypertonia	4695	NDUFA2	ORPHA:255241
HP:0001276	Hypertonia	4697	NDUFA4	ORPHA:255241
HP:0001276	Hypertonia	4704	NDUFA9	ORPHA:255241
HP:0001276	Hypertonia	23769	FLRT1	ORPHA:320406
HP:0001276	Hypertonia	64837	KLC2	ORPHA:320406
HP:0001276	Hypertonia	8242	KDM5C	OMIM:300534
HP:0001276	Hypertonia	200205	IBA57	ORPHA:468661
HP:0001276	Hypertonia	1201	CLN3	ORPHA:228346
HP:0001276	Hypertonia	3119	HLA-DQB1	OMIM:123400
HP:0001276	Hypertonia	10367	MICU1	ORPHA:401768
HP:0001276	Hypertonia	3155	HMGCL	ORPHA:20
HP:0001276	Hypertonia	23516	SLC39A14	OMIM:617013
HP:0001276	Hypertonia	23516	SLC39A14	ORPHA:521406
HP:0001276	Hypertonia	23204	ARL6IP1	OMIM:615685
HP:0001276	Hypertonia	23204	ARL6IP1	ORPHA:401780
HP:0001276	Hypertonia	10157	AASS	ORPHA:2203
HP:0001276	Hypertonia	197258	FCSK	OMIM:618324
HP:0001276	Hypertonia	55331	ACER3	OMIM:617762
HP:0001276	Hypertonia	1822	ATN1	OMIM:618494
HP:0001276	Hypertonia	160418	TMTC3	OMIM:617255
HP:0001276	Hypertonia	51112	TRAPPC12	OMIM:617669
HP:0001276	Hypertonia	54676	GTPBP2	OMIM:617988
HP:0001276	Hypertonia	819	CAMLG	OMIM:620201
HP:0001276	Hypertonia	84081	NSRP1	OMIM:620001
HP:0009546	Triangular shaped phalanges of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009546	Triangular shaped phalanges of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009546	Triangular shaped phalanges of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009546	Triangular shaped phalanges of the 2nd finger	650	BMP2	OMIM:112600
HP:0032999	Increased fecal porphyrin	7389	UROD	ORPHA:95159
HP:0032999	Increased fecal porphyrin	7390	UROS	OMIM:263700
HP:0032999	Increased fecal porphyrin	7390	UROS	ORPHA:79277
HP:0032999	Increased fecal porphyrin	2623	GATA1	ORPHA:79277
HP:0032999	Increased fecal porphyrin	210	ALAD	ORPHA:100924
HP:0032999	Increased fecal porphyrin	1371	CPOX	OMIM:618892
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	650	BMP2	OMIM:112600
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	650	BMP2	ORPHA:93396
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	8200	GDF5	OMIM:615072
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	27152	INTU	OMIM:617926
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009553	Abnormality of the hairline	7291	TWIST1	ORPHA:794
HP:0009553	Abnormality of the hairline	7291	TWIST1	OMIM:101400
HP:0009553	Abnormality of the hairline	7291	TWIST1	OMIM:617746
HP:0009553	Abnormality of the hairline	2263	FGFR2	ORPHA:794
HP:0009553	Abnormality of the hairline	2263	FGFR2	OMIM:101400
HP:0009553	Abnormality of the hairline	2261	FGFR3	ORPHA:794
HP:0009553	Abnormality of the hairline	2261	FGFR3	OMIM:602849
HP:0009553	Abnormality of the hairline	11113	CIT	OMIM:617090
HP:0009553	Abnormality of the hairline	10128	LRPPRC	OMIM:220111
HP:0009553	Abnormality of the hairline	91949	COG7	OMIM:608779
HP:0009553	Abnormality of the hairline	25970	SH2B1	ORPHA:261222
HP:0009553	Abnormality of the hairline	9131	AIFM1	OMIM:300232
HP:0009553	Abnormality of the hairline	6909	TBX2	OMIM:618223
HP:0009553	Abnormality of the hairline	117581	TWIST2	OMIM:227260
HP:0009553	Abnormality of the hairline	117581	TWIST2	OMIM:209885
HP:0009553	Abnormality of the hairline	6885	MAP3K7	OMIM:617137
HP:0009553	Abnormality of the hairline	55627	SMPD4	OMIM:618622
HP:0009553	Abnormality of the hairline	8818	DPM2	ORPHA:329178
HP:0009553	Abnormality of the hairline	7545	ZIC1	OMIM:616602
HP:0009553	Abnormality of the hairline	7545	ZIC1	OMIM:618736
HP:0009553	Abnormality of the hairline	7518	XRCC4	ORPHA:99812
HP:0009553	Abnormality of the hairline	3981	LIG4	ORPHA:99812
HP:0009553	Abnormality of the hairline	3981	LIG4	OMIM:606593
HP:0009553	Abnormality of the hairline	3981	LIG4	ORPHA:235
HP:0009553	Abnormality of the hairline	55209	SETD5	ORPHA:404440
HP:0009553	Abnormality of the hairline	55209	SETD5	OMIM:615761
HP:0009553	Abnormality of the hairline	57465	TBC1D24	OMIM:220500
HP:0009553	Abnormality of the hairline	57465	TBC1D24	ORPHA:79500
HP:0009553	Abnormality of the hairline	9578	CDC42BPB	OMIM:619841
HP:0009553	Abnormality of the hairline	170302	ARX	OMIM:300004
HP:0009553	Abnormality of the hairline	341640	FREM2	OMIM:617666
HP:0009553	Abnormality of the hairline	55690	PACS1	OMIM:615009
HP:0009553	Abnormality of the hairline	55690	PACS1	ORPHA:329224
HP:0009553	Abnormality of the hairline	4081	MAB21L1	OMIM:618479
HP:0009553	Abnormality of the hairline	318	NUDT2	OMIM:619844
HP:0009553	Abnormality of the hairline	10982	MAPRE2	OMIM:616734
HP:0009553	Abnormality of the hairline	55780	ERMARD	ORPHA:75857
HP:0009553	Abnormality of the hairline	5934	RBL2	OMIM:619690
HP:0009553	Abnormality of the hairline	83999	KREMEN1	OMIM:617392
HP:0009553	Abnormality of the hairline	23221	RHOBTB2	OMIM:618004
HP:0009553	Abnormality of the hairline	55870	ASH1L	OMIM:617796
HP:0009553	Abnormality of the hairline	4125	MAN2B1	OMIM:248500
HP:0009553	Abnormality of the hairline	1020	CDK5	OMIM:616342
HP:0009553	Abnormality of the hairline	79029	AFG2B	OMIM:619616
HP:0009553	Abnormality of the hairline	6597	SMARCA4	ORPHA:1465
HP:0009553	Abnormality of the hairline	6598	SMARCB1	ORPHA:1465
HP:0009553	Abnormality of the hairline	6659	SOX4	ORPHA:1465
HP:0009553	Abnormality of the hairline	8289	ARID1A	ORPHA:1465
HP:0009553	Abnormality of the hairline	8289	ARID1A	OMIM:614607
HP:0009553	Abnormality of the hairline	5977	DPF2	ORPHA:1465
HP:0009553	Abnormality of the hairline	6601	SMARCC2	ORPHA:1465
HP:0009553	Abnormality of the hairline	57492	ARID1B	ORPHA:1465
HP:0009553	Abnormality of the hairline	196528	ARID2	ORPHA:1465
HP:0009553	Abnormality of the hairline	6605	SMARCE1	ORPHA:1465
HP:0009553	Abnormality of the hairline	6605	SMARCE1	OMIM:616938
HP:0009553	Abnormality of the hairline	6664	SOX11	ORPHA:1465
HP:0009553	Abnormality of the hairline	23389	MED13L	ORPHA:369891
HP:0009553	Abnormality of the hairline	23065	EMC1	OMIM:616875
HP:0009553	Abnormality of the hairline	23065	EMC1	ORPHA:480898
HP:0009553	Abnormality of the hairline	128637	TBC1D20	OMIM:615663
HP:0009553	Abnormality of the hairline	1954	MEGF8	OMIM:614976
HP:0009553	Abnormality of the hairline	3782	KCNN3	OMIM:618658
HP:0009553	Abnormality of the hairline	4853	NOTCH2	ORPHA:955
HP:0009553	Abnormality of the hairline	57572	DOCK6	OMIM:614219
HP:0009553	Abnormality of the hairline	59336	PRDM13	OMIM:619909
HP:0009553	Abnormality of the hairline	54888	NSUN2	ORPHA:235
HP:0009553	Abnormality of the hairline	9895	TECPR2	OMIM:615031
HP:0009553	Abnormality of the hairline	9895	TECPR2	ORPHA:320385
HP:0009553	Abnormality of the hairline	157680	VPS13B	ORPHA:193
HP:0009553	Abnormality of the hairline	6938	TCF12	OMIM:615314
HP:0009553	Abnormality of the hairline	22931	RAB18	OMIM:614222
HP:0009553	Abnormality of the hairline	85440	DOCK7	ORPHA:411986
HP:0009553	Abnormality of the hairline	85440	DOCK7	OMIM:615859
HP:0009553	Abnormality of the hairline	80036	TRPM3	OMIM:620224
HP:0009553	Abnormality of the hairline	8405	SPOP	OMIM:618828
HP:0009553	Abnormality of the hairline	526	ATP6V1B2	ORPHA:79500
HP:0009553	Abnormality of the hairline	84172	POLR1B	ORPHA:861
HP:0009553	Abnormality of the hairline	9533	POLR1C	ORPHA:861
HP:0009553	Abnormality of the hairline	51082	POLR1D	ORPHA:861
HP:0009553	Abnormality of the hairline	6949	TCOF1	ORPHA:861
HP:0009553	Abnormality of the hairline	7204	TRIO	OMIM:617061
HP:0009553	Abnormality of the hairline	91875	TTC5	OMIM:619244
HP:0009553	Abnormality of the hairline	440138	ALG11	OMIM:613661
HP:0009553	Abnormality of the hairline	93587	TRMT10A	ORPHA:391408
HP:0009553	Abnormality of the hairline	93587	TRMT10A	OMIM:616033
HP:0009553	Abnormality of the hairline	84919	PPP1R15B	ORPHA:391408
HP:0009553	Abnormality of the hairline	55343	SLC35C1	ORPHA:99843
HP:0009553	Abnormality of the hairline	55691	FRMD4A	OMIM:616819
HP:0009553	Abnormality of the hairline	55691	FRMD4A	ORPHA:466688
HP:0009553	Abnormality of the hairline	79147	FKRP	OMIM:613153
HP:0009553	Abnormality of the hairline	374969	SVBP	OMIM:618569
HP:0009553	Abnormality of the hairline	3643	INSR	ORPHA:769
HP:0009553	Abnormality of the hairline	4683	NBN	ORPHA:647
HP:0009553	Abnormality of the hairline	3339	HSPG2	ORPHA:800
HP:0009553	Abnormality of the hairline	6135	RPL11	ORPHA:124
HP:0009553	Abnormality of the hairline	6138	RPL15	ORPHA:124
HP:0009553	Abnormality of the hairline	6229	RPS24	ORPHA:124
HP:0009553	Abnormality of the hairline	6125	RPL5	ORPHA:124
HP:0009553	Abnormality of the hairline	6204	RPS10	ORPHA:124
HP:0009553	Abnormality of the hairline	6224	RPS20	ORPHA:124
HP:0009553	Abnormality of the hairline	6165	RPL35A	ORPHA:124
HP:0009553	Abnormality of the hairline	2623	GATA1	ORPHA:124
HP:0009553	Abnormality of the hairline	6223	RPS19	ORPHA:124
HP:0009553	Abnormality of the hairline	6232	RPS27	ORPHA:124
HP:0009553	Abnormality of the hairline	6231	RPS26	ORPHA:124
HP:0009553	Abnormality of the hairline	11224	RPL35	ORPHA:124
HP:0009553	Abnormality of the hairline	6160	RPL31	ORPHA:124
HP:0009553	Abnormality of the hairline	6218	RPS17	ORPHA:124
HP:0009553	Abnormality of the hairline	6201	RPS7	ORPHA:124
HP:0009553	Abnormality of the hairline	6155	RPL27	ORPHA:124
HP:0009553	Abnormality of the hairline	6154	RPL26	ORPHA:124
HP:0009553	Abnormality of the hairline	6210	RPS15A	ORPHA:124
HP:0009553	Abnormality of the hairline	90121	TSR2	ORPHA:124
HP:0009553	Abnormality of the hairline	6141	RPL18	ORPHA:124
HP:0009553	Abnormality of the hairline	6235	RPS29	ORPHA:124
HP:0009553	Abnormality of the hairline	51816	ADA2	ORPHA:124
HP:0009553	Abnormality of the hairline	171023	ASXL1	OMIM:605039
HP:0009553	Abnormality of the hairline	672	BRCA1	OMIM:617883
HP:0009553	Abnormality of the hairline	6878	TAF6	OMIM:617126
HP:0009553	Abnormality of the hairline	9990	SLC12A6	OMIM:218000
HP:0009553	Abnormality of the hairline	8092	ALX1	ORPHA:306542
HP:0009553	Abnormality of the hairline	55027	HEATR3	OMIM:620072
HP:0009553	Abnormality of the hairline	257	ALX3	OMIM:136760
HP:0009553	Abnormality of the hairline	257	ALX3	ORPHA:391474
HP:0009553	Abnormality of the hairline	4281	MID1	OMIM:300000
HP:0009553	Abnormality of the hairline	4281	MID1	ORPHA:2745
HP:0009553	Abnormality of the hairline	6857	SYT1	ORPHA:522077
HP:0009553	Abnormality of the hairline	10220	GDF11	OMIM:619122
HP:0009553	Abnormality of the hairline	473	RERE	OMIM:616975
HP:0009553	Abnormality of the hairline	23384	SPECC1L	OMIM:145420
HP:0009553	Abnormality of the hairline	23384	SPECC1L	ORPHA:1519
HP:0009553	Abnormality of the hairline	22907	DHX30	OMIM:617804
HP:0009553	Abnormality of the hairline	6304	SATB1	OMIM:619229
HP:0009553	Abnormality of the hairline	4036	LRP2	ORPHA:2143
HP:0009553	Abnormality of the hairline	10522	DEAF1	OMIM:615828
HP:0009553	Abnormality of the hairline	2316	FLNA	OMIM:304120
HP:0009553	Abnormality of the hairline	10466	COG5	ORPHA:263487
HP:0009553	Abnormality of the hairline	64132	XYLT2	OMIM:605822
HP:0009553	Abnormality of the hairline	64132	XYLT2	ORPHA:85194
HP:0009553	Abnormality of the hairline	3479	IGF1	ORPHA:73272
HP:0009553	Abnormality of the hairline	324	APC	ORPHA:261584
HP:0009553	Abnormality of the hairline	1947	EFNB1	ORPHA:1520
HP:0009553	Abnormality of the hairline	1947	EFNB1	OMIM:304110
HP:0009553	Abnormality of the hairline	161742	SPRED1	OMIM:611431
HP:0009553	Abnormality of the hairline	673	BRAF	OMIM:115150
HP:0009553	Abnormality of the hairline	673	BRAF	ORPHA:1340
HP:0009553	Abnormality of the hairline	673	BRAF	OMIM:613707
HP:0009553	Abnormality of the hairline	673	BRAF	OMIM:613706
HP:0009553	Abnormality of the hairline	673	BRAF	OMIM:163950
HP:0009553	Abnormality of the hairline	79650	USB1	OMIM:604173
HP:0009553	Abnormality of the hairline	10847	SRCAP	OMIM:136140
HP:0009553	Abnormality of the hairline	3020	H3-3A	OMIM:619720
HP:0009553	Abnormality of the hairline	23030	KDM4B	OMIM:619320
HP:0009553	Abnormality of the hairline	5184	PEPD	OMIM:170100
HP:0009553	Abnormality of the hairline	4893	NRAS	OMIM:613224
HP:0009553	Abnormality of the hairline	4893	NRAS	ORPHA:648
HP:0009553	Abnormality of the hairline	65082	VPS33A	OMIM:617303
HP:0009553	Abnormality of the hairline	80055	PGAP1	OMIM:615802
HP:0009553	Abnormality of the hairline	25782	RAB3GAP2	OMIM:212720
HP:0009553	Abnormality of the hairline	25782	RAB3GAP2	ORPHA:1387
HP:0009553	Abnormality of the hairline	3764	KCNJ8	ORPHA:1517
HP:0009553	Abnormality of the hairline	10060	ABCC9	ORPHA:1517
HP:0009553	Abnormality of the hairline	4297	KMT2A	OMIM:605130
HP:0009553	Abnormality of the hairline	4763	NF1	OMIM:601321
HP:0009553	Abnormality of the hairline	55777	MBD5	OMIM:156200
HP:0009553	Abnormality of the hairline	165	AEBP1	OMIM:618000
HP:0009553	Abnormality of the hairline	10265	IRX5	OMIM:611174
HP:0009553	Abnormality of the hairline	5604	MAP2K1	ORPHA:1340
HP:0009553	Abnormality of the hairline	5604	MAP2K1	OMIM:163950
HP:0009553	Abnormality of the hairline	5605	MAP2K2	ORPHA:1340
HP:0009553	Abnormality of the hairline	3845	KRAS	ORPHA:1340
HP:0009553	Abnormality of the hairline	3845	KRAS	ORPHA:648
HP:0009553	Abnormality of the hairline	1000	CDH2	OMIM:618929
HP:0009553	Abnormality of the hairline	7020	TFAP2A	OMIM:113620
HP:0009553	Abnormality of the hairline	7319	UBE2A	OMIM:300860
HP:0009553	Abnormality of the hairline	7319	UBE2A	ORPHA:163956
HP:0009553	Abnormality of the hairline	8036	SHOC2	ORPHA:2701
HP:0009553	Abnormality of the hairline	4854	NOTCH3	ORPHA:2789
HP:0009553	Abnormality of the hairline	51729	WBP11	OMIM:619227
HP:0009553	Abnormality of the hairline	200734	SPRED2	OMIM:619745
HP:0009553	Abnormality of the hairline	200734	SPRED2	ORPHA:648
HP:0009553	Abnormality of the hairline	6602	SMARCD1	OMIM:618779
HP:0009553	Abnormality of the hairline	53834	FGFRL1	OMIM:194190
HP:0009553	Abnormality of the hairline	6234	RPS28	OMIM:606164
HP:0009553	Abnormality of the hairline	60	ACTB	OMIM:243310
HP:0009553	Abnormality of the hairline	60	ACTB	ORPHA:2995
HP:0009553	Abnormality of the hairline	57167	SALL4	ORPHA:233
HP:0009553	Abnormality of the hairline	9935	MAFB	ORPHA:233
HP:0009553	Abnormality of the hairline	1123	CHN1	ORPHA:233
HP:0009553	Abnormality of the hairline	23476	BRD4	ORPHA:199
HP:0009553	Abnormality of the hairline	9126	SMC3	ORPHA:199
HP:0009553	Abnormality of the hairline	8243	SMC1A	ORPHA:199
HP:0009553	Abnormality of the hairline	25836	NIPBL	ORPHA:199
HP:0009553	Abnormality of the hairline	25836	NIPBL	OMIM:122470
HP:0009553	Abnormality of the hairline	55869	HDAC8	ORPHA:199
HP:0009553	Abnormality of the hairline	5885	RAD21	ORPHA:199
HP:0009553	Abnormality of the hairline	392255	GDF6	OMIM:118100
HP:0009553	Abnormality of the hairline	392255	GDF6	ORPHA:2345
HP:0009553	Abnormality of the hairline	1387	CREBBP	OMIM:180849
HP:0009553	Abnormality of the hairline	2033	EP300	OMIM:180849
HP:0009553	Abnormality of the hairline	29957	SLC25A24	OMIM:612289
HP:0009553	Abnormality of the hairline	79005	SCNM1	OMIM:620107
HP:0009553	Abnormality of the hairline	4784	NFIX	ORPHA:420179
HP:0009553	Abnormality of the hairline	54499	TMCO1	OMIM:213980
HP:0009553	Abnormality of the hairline	54499	TMCO1	ORPHA:1394
HP:0009553	Abnormality of the hairline	5293	PIK3CD	ORPHA:221139
HP:0009553	Abnormality of the hairline	90417	KNSTRN	ORPHA:221139
HP:0009553	Abnormality of the hairline	79796	ALG9	ORPHA:79328
HP:0009553	Abnormality of the hairline	8567	MADD	OMIM:619004
HP:0009553	Abnormality of the hairline	374879	ZNF699	OMIM:619488
HP:0009553	Abnormality of the hairline	5594	MAPK1	OMIM:619087
HP:0009553	Abnormality of the hairline	28952	CCDC22	OMIM:300963
HP:0009553	Abnormality of the hairline	4849	CNOT3	OMIM:618672
HP:0009553	Abnormality of the hairline	226	ALDOA	OMIM:611881
HP:0009553	Abnormality of the hairline	4222	MEOX1	OMIM:214300
HP:0009553	Abnormality of the hairline	4222	MEOX1	ORPHA:2345
HP:0009553	Abnormality of the hairline	80267	EDEM3	OMIM:619493
HP:0009553	Abnormality of the hairline	9897	WASHC5	OMIM:220210
HP:0009553	Abnormality of the hairline	10020	GNE	OMIM:269921
HP:0009553	Abnormality of the hairline	5286	PIK3C2A	OMIM:618440
HP:0009553	Abnormality of the hairline	738	VPS51	OMIM:618606
HP:0009553	Abnormality of the hairline	22930	RAB3GAP1	ORPHA:1387
HP:0009553	Abnormality of the hairline	23133	PHF8	ORPHA:85287
HP:0009553	Abnormality of the hairline	23133	PHF8	OMIM:300263
HP:0009553	Abnormality of the hairline	54187	NANS	OMIM:610442
HP:0009553	Abnormality of the hairline	84700	MYO18B	OMIM:616549
HP:0009553	Abnormality of the hairline	22800	RRAS2	ORPHA:648
HP:0009553	Abnormality of the hairline	867	CBL	ORPHA:648
HP:0009553	Abnormality of the hairline	867	CBL	OMIM:613563
HP:0009553	Abnormality of the hairline	8216	LZTR1	ORPHA:648
HP:0009553	Abnormality of the hairline	8216	LZTR1	OMIM:605275
HP:0009553	Abnormality of the hairline	6016	RIT1	ORPHA:648
HP:0009553	Abnormality of the hairline	6237	RRAS	ORPHA:648
HP:0009553	Abnormality of the hairline	5894	RAF1	ORPHA:648
HP:0009553	Abnormality of the hairline	22808	MRAS	ORPHA:648
HP:0009553	Abnormality of the hairline	6655	SOS2	ORPHA:648
HP:0009553	Abnormality of the hairline	5781	PTPN11	ORPHA:648
HP:0009553	Abnormality of the hairline	5781	PTPN11	OMIM:163950
HP:0009553	Abnormality of the hairline	5922	RASA2	ORPHA:648
HP:0009553	Abnormality of the hairline	4621	MYH3	ORPHA:2990
HP:0009553	Abnormality of the hairline	1146	CHRNG	ORPHA:2990
HP:0009553	Abnormality of the hairline	5468	PPARG	ORPHA:528
HP:0009553	Abnormality of the hairline	10555	AGPAT2	ORPHA:528
HP:0009553	Abnormality of the hairline	284119	CAVIN1	ORPHA:528
HP:0009553	Abnormality of the hairline	26580	BSCL2	ORPHA:528
HP:0009553	Abnormality of the hairline	2353	FOS	ORPHA:528
HP:0009553	Abnormality of the hairline	857	CAV1	ORPHA:528
HP:0009553	Abnormality of the hairline	6913	TBX15	ORPHA:93333
HP:0009553	Abnormality of the hairline	79087	ALG12	ORPHA:79324
HP:0009553	Abnormality of the hairline	71	ACTG1	ORPHA:2995
HP:0009553	Abnormality of the hairline	9469	CHST3	OMIM:245600
HP:0009553	Abnormality of the hairline	26229	B3GAT3	OMIM:245600
HP:0009553	Abnormality of the hairline	6595	SMARCA2	OMIM:601358
HP:0009553	Abnormality of the hairline	29123	ANKRD11	OMIM:148050
HP:0009553	Abnormality of the hairline	8621	CDK13	OMIM:617360
HP:0009553	Abnormality of the hairline	9181	ARHGEF2	OMIM:617523
HP:0009553	Abnormality of the hairline	9573	GDF3	ORPHA:2345
HP:0009553	Abnormality of the hairline	6736	SRY	ORPHA:1772
HP:0009553	Abnormality of the hairline	27152	INTU	OMIM:617925
HP:0009553	Abnormality of the hairline	10075	HUWE1	OMIM:309590
HP:0009553	Abnormality of the hairline	10297	APC2	ORPHA:821
HP:0009553	Abnormality of the hairline	1371	CPOX	ORPHA:79273
HP:0009553	Abnormality of the hairline	80144	FRAS1	OMIM:219000
HP:0009553	Abnormality of the hairline	5824	PEX19	OMIM:614886
HP:0009553	Abnormality of the hairline	158326	FREM1	OMIM:248450
HP:0009553	Abnormality of the hairline	7248	TSC1	OMIM:191100
HP:0009553	Abnormality of the hairline	9653	HS2ST1	OMIM:619194
HP:0009553	Abnormality of the hairline	1802	DPH2	OMIM:620062
HP:0009553	Abnormality of the hairline	23394	ADNP	ORPHA:404448
HP:0009553	Abnormality of the hairline	23394	ADNP	OMIM:615873
HP:0009553	Abnormality of the hairline	23013	SPEN	OMIM:619312
HP:0009553	Abnormality of the hairline	8367	H4C5	OMIM:619950
HP:0009553	Abnormality of the hairline	104	ADARB1	OMIM:618862
HP:0009553	Abnormality of the hairline	8812	CCNK	OMIM:618147
HP:0009553	Abnormality of the hairline	1182	CLCN3	OMIM:619512
HP:0009553	Abnormality of the hairline	6608	SMO	OMIM:601707
HP:0009553	Abnormality of the hairline	4010	LMX1B	ORPHA:2614
HP:0009553	Abnormality of the hairline	29926	GMPPA	OMIM:615510
HP:0009553	Abnormality of the hairline	54361	WNT4	ORPHA:247768
HP:0009553	Abnormality of the hairline	7360	UGP2	OMIM:618744
HP:0009553	Abnormality of the hairline	3008	H1-4	OMIM:617537
HP:0009553	Abnormality of the hairline	3703	STT3A	OMIM:619714
HP:0009553	Abnormality of the hairline	5189	PEX1	ORPHA:3220
HP:0009553	Abnormality of the hairline	5190	PEX6	ORPHA:3220
HP:0009553	Abnormality of the hairline	10283	CWC27	OMIM:250410
HP:0009553	Abnormality of the hairline	79718	TBL1XR1	OMIM:602342
HP:0009553	Abnormality of the hairline	79718	TBL1XR1	ORPHA:487825
HP:0009553	Abnormality of the hairline	79228	THOC6	ORPHA:363444
HP:0009553	Abnormality of the hairline	79228	THOC6	OMIM:613680
HP:0009553	Abnormality of the hairline	29998	BICRA	OMIM:619325
HP:0009553	Abnormality of the hairline	253959	RALGAPA1	OMIM:618797
HP:0009553	Abnormality of the hairline	10026	PIGK	OMIM:618879
HP:0009553	Abnormality of the hairline	10525	HYOU1	OMIM:233600
HP:0009553	Abnormality of the hairline	5500	PPP1CB	OMIM:617506
HP:0009553	Abnormality of the hairline	999	CDH1	OMIM:119580
HP:0009553	Abnormality of the hairline	3756	KCNH1	ORPHA:420561
HP:0009553	Abnormality of the hairline	84679	SLC9A7	OMIM:301024
HP:0009553	Abnormality of the hairline	64135	IFIH1	OMIM:182250
HP:0009553	Abnormality of the hairline	10735	STAG2	OMIM:301022
HP:0009553	Abnormality of the hairline	9968	MED12	OMIM:300895
HP:0009553	Abnormality of the hairline	64324	NSD1	OMIM:117550
HP:0009553	Abnormality of the hairline	55906	ZC4H2	OMIM:314580
HP:0009553	Abnormality of the hairline	1748	DLX4	OMIM:616788
HP:0009553	Abnormality of the hairline	25942	SIN3A	ORPHA:94065
HP:0009553	Abnormality of the hairline	25942	SIN3A	OMIM:613406
HP:0009553	Abnormality of the hairline	10815	CPLX1	ORPHA:280
HP:0009553	Abnormality of the hairline	54872	PIGG	ORPHA:280
HP:0009553	Abnormality of the hairline	7469	NELFA	ORPHA:280
HP:0009553	Abnormality of the hairline	1487	CTBP1	ORPHA:280
HP:0009553	Abnormality of the hairline	3954	LETM1	ORPHA:280
HP:0009553	Abnormality of the hairline	7468	NSD2	ORPHA:280
HP:0009553	Abnormality of the hairline	23028	KDM1A	ORPHA:477993
HP:0009553	Abnormality of the hairline	4212	MEIS2	OMIM:600987
HP:0009553	Abnormality of the hairline	5587	PRKD1	OMIM:617364
HP:0009553	Abnormality of the hairline	29072	SETD2	OMIM:616831
HP:0009553	Abnormality of the hairline	4858	NOVA2	OMIM:618859
HP:0009553	Abnormality of the hairline	25871	NEPRO	OMIM:618853
HP:0009553	Abnormality of the hairline	2245	FGD1	ORPHA:915
HP:0009553	Abnormality of the hairline	2783	GNB2	OMIM:619503
HP:0009553	Abnormality of the hairline	79633	FAT4	OMIM:615546
HP:0009553	Abnormality of the hairline	26057	ANKRD17	OMIM:619504
HP:0009553	Abnormality of the hairline	6654	SOS1	OMIM:610733
HP:0009553	Abnormality of the hairline	3720	JARID2	OMIM:620098
HP:0009554	Preauricular hair displacement	7248	TSC1	OMIM:191100
HP:0009554	Preauricular hair displacement	84172	POLR1B	OMIM:618939
HP:0009554	Preauricular hair displacement	6949	TCOF1	OMIM:154500
HP:0002390	Spinal arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0002390	Spinal arteriovenous malformation	2022	ENG	OMIM:187300
HP:0002390	Spinal arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0002392	EEG with polyspike wave complexes	29968	PSAT1	ORPHA:284417
HP:0002392	EEG with polyspike wave complexes	84992	PIGY	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	84720	PIGO	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	93210	PGAP3	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	284098	PIGW	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	27315	PGAP2	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	55650	PIGV	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	9487	PIGL	ORPHA:247262
HP:0002392	EEG with polyspike wave complexes	1173	AP2M1	OMIM:618587
HP:0002392	EEG with polyspike wave complexes	1173	AP2M1	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	10297	APC2	OMIM:617169
HP:0002392	EEG with polyspike wave complexes	23067	SETD1B	OMIM:619000
HP:0002392	EEG with polyspike wave complexes	3747	KCNC2	OMIM:619913
HP:0002392	EEG with polyspike wave complexes	55689	YEATS2	OMIM:615127
HP:0002392	EEG with polyspike wave complexes	7532	YWHAG	OMIM:617665
HP:0002392	EEG with polyspike wave complexes	60482	SLC5A7	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	4649	MYO9A	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	1305	COL13A1	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	1103	CHAT	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	6576	SLC25A1	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	6843	VAMP1	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	375790	AGRN	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	127833	SYT2	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	6572	SLC18A3	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	6616	SNAP25	ORPHA:98914
HP:0002392	EEG with polyspike wave complexes	114327	EFHC1	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	114327	EFHC1	ORPHA:1941
HP:0002392	EEG with polyspike wave complexes	2563	GABRD	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	1181	CLCN2	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	2554	GABRA1	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	3786	KCNQ3	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	22858	CILK1	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	8629	JRK	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	785	CACNB4	ORPHA:307
HP:0002392	EEG with polyspike wave complexes	785	CACNB4	OMIM:607682
HP:0002392	EEG with polyspike wave complexes	1476	CSTB	OMIM:254800
HP:0002392	EEG with polyspike wave complexes	1476	CSTB	ORPHA:308
HP:0002392	EEG with polyspike wave complexes	5290	PIK3CA	ORPHA:99802
HP:0002392	EEG with polyspike wave complexes	2475	MTOR	ORPHA:99802
HP:0002392	EEG with polyspike wave complexes	10000	AKT3	ORPHA:99802
HP:0002392	EEG with polyspike wave complexes	9289	ADGRG1	ORPHA:98889
HP:0002392	EEG with polyspike wave complexes	5297	PI4KA	ORPHA:98889
HP:0002392	EEG with polyspike wave complexes	27286	SRPX2	ORPHA:98889
HP:0002392	EEG with polyspike wave complexes	144165	PRICKLE1	ORPHA:308
HP:0002392	EEG with polyspike wave complexes	950	SCARB2	ORPHA:308
HP:0002392	EEG with polyspike wave complexes	2566	GABRG2	OMIM:607681
HP:0002392	EEG with polyspike wave complexes	6513	SLC2A1	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	8831	SYNGAP1	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	6323	SCN1A	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	340533	NEXMIF	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	1106	CHD2	ORPHA:1942
HP:0002392	EEG with polyspike wave complexes	6529	SLC6A1	ORPHA:1942
HP:0001285	Spastic tetraparesis	84065	TMEM222	OMIM:619470
HP:0001285	Spastic tetraparesis	5354	PLP1	ORPHA:280224
HP:0001285	Spastic tetraparesis	5354	PLP1	ORPHA:280219
HP:0001285	Spastic tetraparesis	3763	KCNJ6	ORPHA:435628
HP:0001285	Spastic tetraparesis	3763	KCNJ6	OMIM:614098
HP:0001285	Spastic tetraparesis	11340	EXOSC8	OMIM:616081
HP:0001285	Spastic tetraparesis	8243	SMC1A	OMIM:301044
HP:0001285	Spastic tetraparesis	10617	STAMBP	OMIM:614261
HP:0001285	Spastic tetraparesis	51399	TRAPPC4	OMIM:618741
HP:0001285	Spastic tetraparesis	84879	MFSD2A	OMIM:616486
HP:0001285	Spastic tetraparesis	6659	SOX4	OMIM:618506
HP:0001285	Spastic tetraparesis	4337	MOCS1	OMIM:252150
HP:0001285	Spastic tetraparesis	7355	SLC35A2	ORPHA:356961
HP:0001285	Spastic tetraparesis	84334	COA8	ORPHA:436271
HP:0001285	Spastic tetraparesis	84334	COA8	OMIM:619061
HP:0001285	Spastic tetraparesis	90624	LYRM7	OMIM:615838
HP:0001285	Spastic tetraparesis	57679	ALS2	OMIM:606353
HP:0001285	Spastic tetraparesis	57679	ALS2	ORPHA:247604
HP:0001285	Spastic tetraparesis	57679	ALS2	OMIM:205100
HP:0001285	Spastic tetraparesis	6571	SLC18A2	ORPHA:352649
HP:0001285	Spastic tetraparesis	11160	ERLIN2	ORPHA:247604
HP:0001285	Spastic tetraparesis	170302	ARX	OMIM:308350
HP:0001285	Spastic tetraparesis	5660	PSAP	OMIM:249900
HP:0001285	Spastic tetraparesis	5631	PRPS1	ORPHA:423479
HP:0001285	Spastic tetraparesis	100147744	RNU7-1	OMIM:619487
HP:0001285	Spastic tetraparesis	60558	GUF1	OMIM:617065
HP:0001285	Spastic tetraparesis	6647	SOD1	OMIM:618598
HP:0001285	Spastic tetraparesis	51601	LIPT1	OMIM:616299
HP:0001285	Spastic tetraparesis	549	AUH	ORPHA:67046
HP:0001285	Spastic tetraparesis	6905	TBCE	ORPHA:496756
HP:0001285	Spastic tetraparesis	387787	LIPT2	OMIM:617668
HP:0001285	Spastic tetraparesis	473	RERE	OMIM:616975
HP:0001285	Spastic tetraparesis	4010	LMX1B	ORPHA:495818
HP:0001285	Spastic tetraparesis	6812	STXBP1	ORPHA:495818
HP:0001285	Spastic tetraparesis	10157	AASS	ORPHA:2203
HP:0001285	Spastic tetraparesis	79152	FA2H	ORPHA:171629
HP:0001285	Spastic tetraparesis	79152	FA2H	OMIM:612319
HP:0001285	Spastic tetraparesis	64135	IFIH1	OMIM:615846
HP:0001285	Spastic tetraparesis	498	ATP5F1A	OMIM:620358
HP:0001285	Spastic tetraparesis	5048	PAFAH1B1	OMIM:607432
HP:0001285	Spastic tetraparesis	79944	L2HGDH	OMIM:236792
HP:0001285	Spastic tetraparesis	79944	L2HGDH	ORPHA:79314
HP:0001285	Spastic tetraparesis	2192	FBLN1	ORPHA:404451
HP:0001285	Spastic tetraparesis	284403	WDR62	OMIM:604317
HP:0001285	Spastic tetraparesis	51204	TACO1	OMIM:619052
HP:0001285	Spastic tetraparesis	2937	GSS	OMIM:266130
HP:0001285	Spastic tetraparesis	65055	REEP1	ORPHA:101011
HP:0001285	Spastic tetraparesis	348	APOE	OMIM:607822
HP:0001285	Spastic tetraparesis	5663	PSEN1	OMIM:607822
HP:0001285	Spastic tetraparesis	4001	LMNB1	OMIM:619179
HP:0001285	Spastic tetraparesis	4508	MT-ATP6	ORPHA:225154
HP:0001285	Spastic tetraparesis	23636	NUP62	ORPHA:225154
HP:0001285	Spastic tetraparesis	103	ADAR	ORPHA:225154
HP:0001285	Spastic tetraparesis	7143	TNR	OMIM:619653
HP:0001285	Spastic tetraparesis	3899	AFF3	OMIM:619297
HP:0001285	Spastic tetraparesis	215	ABCD1	ORPHA:139396
HP:0001285	Spastic tetraparesis	6389	SDHA	ORPHA:3208
HP:0001285	Spastic tetraparesis	6390	SDHB	ORPHA:3208
HP:0001285	Spastic tetraparesis	6392	SDHD	ORPHA:3208
HP:0001285	Spastic tetraparesis	644096	SDHAF1	ORPHA:3208
HP:0001285	Spastic tetraparesis	29960	MRM2	OMIM:618567
HP:0001285	Spastic tetraparesis	8398	PLA2G6	ORPHA:35069
HP:0001285	Spastic tetraparesis	10195	ALG3	ORPHA:79321
HP:0001285	Spastic tetraparesis	10195	ALG3	OMIM:601110
HP:0001285	Spastic tetraparesis	124454	EARS2	OMIM:614924
HP:0001285	Spastic tetraparesis	29968	PSAT1	ORPHA:284417
HP:0001285	Spastic tetraparesis	27247	NFU1	OMIM:605711
HP:0001285	Spastic tetraparesis	1968	EIF2S3	OMIM:300148
HP:0001285	Spastic tetraparesis	58497	PRUNE1	OMIM:617481
HP:0001285	Spastic tetraparesis	58497	PRUNE1	ORPHA:544469
HP:0001285	Spastic tetraparesis	84188	FAR1	ORPHA:438178
HP:0001285	Spastic tetraparesis	84188	FAR1	OMIM:616154
HP:0001285	Spastic tetraparesis	221692	PHACTR1	OMIM:618298
HP:0001285	Spastic tetraparesis	523	ATP6V1A	OMIM:618012
HP:0001285	Spastic tetraparesis	3785	KCNQ2	OMIM:613720
HP:0001285	Spastic tetraparesis	56978	PRDM8	ORPHA:324290
HP:0001285	Spastic tetraparesis	54808	DYM	ORPHA:239
HP:0001285	Spastic tetraparesis	2760	GM2A	OMIM:272750
HP:0001285	Spastic tetraparesis	3028	HSD17B10	ORPHA:391428
HP:0030051	Tip-toe gait	6445	SGCG	ORPHA:353
HP:0030051	Tip-toe gait	10749	KIF1C	ORPHA:397946
HP:0030051	Tip-toe gait	51062	ATL1	ORPHA:100984
HP:0030051	Tip-toe gait	113612	CYP2U1	OMIM:615030
HP:0030051	Tip-toe gait	113612	CYP2U1	ORPHA:320411
HP:0030051	Tip-toe gait	8367	H4C5	OMIM:619950
HP:0030051	Tip-toe gait	57498	KIDINS220	OMIM:617296
HP:0030051	Tip-toe gait	410	ARSA	ORPHA:309256
HP:0030051	Tip-toe gait	5660	PSAP	ORPHA:309256
HP:0030051	Tip-toe gait	2200	FBN1	OMIM:614185
HP:0030051	Tip-toe gait	23516	SLC39A14	OMIM:617013
HP:0030051	Tip-toe gait	6711	SPTBN1	OMIM:619475
HP:0030051	Tip-toe gait	7415	VCP	ORPHA:435387
HP:0030051	Tip-toe gait	4010	LMX1B	ORPHA:2614
HP:0030051	Tip-toe gait	8291	DYSF	OMIM:254130
HP:0030051	Tip-toe gait	8291	DYSF	ORPHA:268
HP:0030051	Tip-toe gait	8291	DYSF	ORPHA:45448
HP:0030051	Tip-toe gait	1756	DMD	OMIM:310200
HP:0030051	Tip-toe gait	1756	DMD	ORPHA:98895
HP:0030051	Tip-toe gait	3032	HADHB	ORPHA:746
HP:0030051	Tip-toe gait	3030	HADHA	ORPHA:746
HP:0030051	Tip-toe gait	6442	SGCA	ORPHA:62
HP:0030051	Tip-toe gait	1303	COL12A1	ORPHA:536516
HP:0030051	Tip-toe gait	10613	ERLIN1	ORPHA:401785
HP:0030051	Tip-toe gait	10613	ERLIN1	OMIM:615681
HP:0030051	Tip-toe gait	825	CAPN3	ORPHA:267
HP:0030051	Tip-toe gait	2521	FUS	ORPHA:300605
HP:0030051	Tip-toe gait	80208	SPG11	ORPHA:300605
HP:0030051	Tip-toe gait	80208	SPG11	OMIM:604360
HP:0030051	Tip-toe gait	10280	SIGMAR1	ORPHA:300605
HP:0030051	Tip-toe gait	10558	SPTLC1	ORPHA:300605
HP:0030051	Tip-toe gait	57679	ALS2	ORPHA:300605
HP:0030051	Tip-toe gait	57679	ALS2	OMIM:205100
HP:0030051	Tip-toe gait	9131	AIFM1	ORPHA:83629
HP:0030051	Tip-toe gait	80347	COASY	OMIM:615643
HP:0030051	Tip-toe gait	10157	AASS	ORPHA:2203
HP:0030051	Tip-toe gait	22880	MORC2	ORPHA:466768
HP:0030051	Tip-toe gait	9409	PEX16	OMIM:614877
HP:0030051	Tip-toe gait	60482	SLC5A7	ORPHA:98914
HP:0030051	Tip-toe gait	4649	MYO9A	ORPHA:98914
HP:0030051	Tip-toe gait	1305	COL13A1	ORPHA:98914
HP:0030051	Tip-toe gait	1103	CHAT	ORPHA:98914
HP:0030051	Tip-toe gait	6576	SLC25A1	ORPHA:98914
HP:0030051	Tip-toe gait	6843	VAMP1	ORPHA:98914
HP:0030051	Tip-toe gait	375790	AGRN	ORPHA:98914
HP:0030051	Tip-toe gait	127833	SYT2	ORPHA:98914
HP:0030051	Tip-toe gait	6572	SLC18A3	ORPHA:98914
HP:0030051	Tip-toe gait	6616	SNAP25	ORPHA:98914
HP:0030051	Tip-toe gait	3035	HARS1	ORPHA:488333
HP:0030051	Tip-toe gait	90678	LRSAM1	OMIM:614436
HP:0030051	Tip-toe gait	3736	KCNA1	ORPHA:37612
HP:0030051	Tip-toe gait	79158	GNPTAB	OMIM:252500
HP:0030051	Tip-toe gait	10522	DEAF1	ORPHA:468620
HP:0030051	Tip-toe gait	79147	FKRP	OMIM:607155
HP:0030051	Tip-toe gait	79147	FKRP	OMIM:606612
HP:0030051	Tip-toe gait	79147	FKRP	ORPHA:370980
HP:0030051	Tip-toe gait	4625	MYH7	OMIM:160500
HP:0030051	Tip-toe gait	23299	BICD2	OMIM:615290
HP:0030051	Tip-toe gait	84340	GFM2	ORPHA:565624
HP:0030051	Tip-toe gait	339855	KY	ORPHA:496689
HP:0030051	Tip-toe gait	84665	MYPN	ORPHA:171881
HP:0030051	Tip-toe gait	7169	TPM2	ORPHA:171881
HP:0030051	Tip-toe gait	7170	TPM3	ORPHA:171881
HP:0030051	Tip-toe gait	7528	YY1	OMIM:617557
HP:0030051	Tip-toe gait	1778	DYNC1H1	OMIM:614563
HP:0030051	Tip-toe gait	23259	DDHD2	ORPHA:320380
HP:0030051	Tip-toe gait	122622	ADSS1	ORPHA:482601
HP:0030051	Tip-toe gait	81846	SBF2	ORPHA:99956
HP:0030051	Tip-toe gait	4556	MT-TE	ORPHA:2596
HP:0030051	Tip-toe gait	2273	FHL1	ORPHA:98863
HP:0030051	Tip-toe gait	2010	EMD	ORPHA:98863
HP:0030051	Tip-toe gait	11011	TLK2	OMIM:618050
HP:0030051	Tip-toe gait	5832	ALDH18A1	ORPHA:447760
HP:0030051	Tip-toe gait	55181	SMG8	OMIM:619268
HP:0030051	Tip-toe gait	5297	PI4KA	OMIM:619621
HP:0030051	Tip-toe gait	9757	KMT2B	OMIM:617284
HP:0030051	Tip-toe gait	80025	PANK2	ORPHA:216866
HP:0030051	Tip-toe gait	2705	GJB1	OMIM:302800
HP:0030051	Tip-toe gait	51763	INPP5K	OMIM:617404
HP:0030051	Tip-toe gait	2583	B4GALNT1	OMIM:609195
HP:0030051	Tip-toe gait	51308	REEP2	OMIM:615625
HP:0030051	Tip-toe gait	2783	GNB2	OMIM:619503
HP:0030051	Tip-toe gait	2218	FKTN	ORPHA:370980
HP:0030051	Tip-toe gait	729920	CRPPA	ORPHA:370980
HP:0030051	Tip-toe gait	10585	POMT1	ORPHA:370980
HP:0030051	Tip-toe gait	4000	LMNA	ORPHA:98855
HP:0030051	Tip-toe gait	4000	LMNA	ORPHA:98853
HP:0030051	Tip-toe gait	9907	AP5Z1	OMIM:613647
HP:0030051	Tip-toe gait	9531	BAG3	OMIM:612954
HP:0030051	Tip-toe gait	50640	PNPLA8	OMIM:251950
HP:0030051	Tip-toe gait	79188	TMEM43	ORPHA:98853
HP:0030051	Tip-toe gait	23345	SYNE1	ORPHA:98853
HP:0030051	Tip-toe gait	23224	SYNE2	ORPHA:98853
HP:0002395	Lower limb hyperreflexia	3475	IFRD1	ORPHA:98771
HP:0002395	Lower limb hyperreflexia	10749	KIF1C	ORPHA:397946
HP:0002395	Lower limb hyperreflexia	85465	SELENOI	ORPHA:506353
HP:0002395	Lower limb hyperreflexia	9897	WASHC5	OMIM:603563
HP:0002395	Lower limb hyperreflexia	51062	ATL1	ORPHA:100984
HP:0002395	Lower limb hyperreflexia	113612	CYP2U1	OMIM:615030
HP:0002395	Lower limb hyperreflexia	113612	CYP2U1	ORPHA:320411
HP:0002395	Lower limb hyperreflexia	91574	MTRFR	ORPHA:254930
HP:0002395	Lower limb hyperreflexia	57128	LYRM4	OMIM:615595
HP:0002395	Lower limb hyperreflexia	11277	TREX1	OMIM:192315
HP:0002395	Lower limb hyperreflexia	123606	NIPA1	ORPHA:100988
HP:0002395	Lower limb hyperreflexia	2643	GCH1	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	4929	NR4A2	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	3615	IMPDH2	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	3839	KPNA3	OMIM:620106
HP:0002395	Lower limb hyperreflexia	7701	ZNF142	OMIM:618425
HP:0002395	Lower limb hyperreflexia	5361	PLXNA1	OMIM:619955
HP:0002395	Lower limb hyperreflexia	55823	VPS11	OMIM:619637
HP:0002395	Lower limb hyperreflexia	23345	SYNE1	OMIM:610743
HP:0002395	Lower limb hyperreflexia	9256	TSPOAP1	ORPHA:101150
HP:0002395	Lower limb hyperreflexia	7054	TH	ORPHA:101150
HP:0002395	Lower limb hyperreflexia	7345	UCHL1	OMIM:620221
HP:0002395	Lower limb hyperreflexia	10060	ABCC9	OMIM:619719
HP:0002395	Lower limb hyperreflexia	285362	SUMF1	OMIM:272200
HP:0002395	Lower limb hyperreflexia	6687	SPG7	ORPHA:99013
HP:0002395	Lower limb hyperreflexia	51506	UFC1	OMIM:618076
HP:0002395	Lower limb hyperreflexia	10939	AFG3L2	ORPHA:101109
HP:0002395	Lower limb hyperreflexia	10939	AFG3L2	OMIM:610246
HP:0002395	Lower limb hyperreflexia	5010	CLDN11	OMIM:619328
HP:0002395	Lower limb hyperreflexia	57156	TMEM63C	OMIM:619966
HP:0002395	Lower limb hyperreflexia	9197	SLC33A1	OMIM:612539
HP:0002395	Lower limb hyperreflexia	9215	LARGE1	OMIM:608840
HP:0002395	Lower limb hyperreflexia	10667	FARS2	ORPHA:466722
HP:0002395	Lower limb hyperreflexia	10667	FARS2	OMIM:617046
HP:0002395	Lower limb hyperreflexia	80208	SPG11	OMIM:604360
HP:0002395	Lower limb hyperreflexia	8869	ST3GAL5	OMIM:609056
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:98794
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:98795
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:411511
HP:0002395	Lower limb hyperreflexia	4948	OCA2	ORPHA:98794
HP:0002395	Lower limb hyperreflexia	9101	USP8	ORPHA:401795
HP:0002395	Lower limb hyperreflexia	547	KIF1A	ORPHA:101010
HP:0002395	Lower limb hyperreflexia	65055	REEP1	ORPHA:101011
HP:0002395	Lower limb hyperreflexia	8813	DPM1	OMIM:608799
HP:0002395	Lower limb hyperreflexia	348	APOE	OMIM:607822
HP:0002395	Lower limb hyperreflexia	5663	PSEN1	OMIM:607822
HP:0002395	Lower limb hyperreflexia	8242	KDM5C	OMIM:300534
HP:0002395	Lower limb hyperreflexia	7143	TNR	OMIM:619653
HP:0002395	Lower limb hyperreflexia	5917	RARS1	OMIM:616140
HP:0002395	Lower limb hyperreflexia	339855	KY	ORPHA:496689
HP:0002395	Lower limb hyperreflexia	22943	DKK1	ORPHA:268882
HP:0002395	Lower limb hyperreflexia	8622	PDE8B	OMIM:609161
HP:0002395	Lower limb hyperreflexia	7436	VLDLR	OMIM:224050
HP:0002395	Lower limb hyperreflexia	3930	LBR	OMIM:169400
HP:0002395	Lower limb hyperreflexia	7415	VCP	ORPHA:329475
HP:0002395	Lower limb hyperreflexia	1737	DLAT	ORPHA:79244
HP:0002395	Lower limb hyperreflexia	4556	MT-TE	ORPHA:2596
HP:0002395	Lower limb hyperreflexia	823	CAPN1	OMIM:616907
HP:0002395	Lower limb hyperreflexia	823	CAPN1	ORPHA:488594
HP:0002395	Lower limb hyperreflexia	84188	FAR1	ORPHA:447753
HP:0002395	Lower limb hyperreflexia	6872	TAF1	ORPHA:480907
HP:0002395	Lower limb hyperreflexia	10943	MSL3	OMIM:301032
HP:0002395	Lower limb hyperreflexia	2512	FTL	ORPHA:157846
HP:0002395	Lower limb hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0002395	Lower limb hyperreflexia	54903	MKS1	OMIM:617121
HP:0002395	Lower limb hyperreflexia	8295	TRRAP	OMIM:618454
HP:0002395	Lower limb hyperreflexia	84842	HPDL	OMIM:619027
HP:0002395	Lower limb hyperreflexia	23503	ZFYVE26	ORPHA:100996
HP:0002395	Lower limb hyperreflexia	2705	GJB1	OMIM:302800
HP:0002395	Lower limb hyperreflexia	2705	GJB1	ORPHA:1175
HP:0002395	Lower limb hyperreflexia	51271	UBAP1	OMIM:618418
HP:0002395	Lower limb hyperreflexia	51308	REEP2	OMIM:615625
HP:0002395	Lower limb hyperreflexia	2752	GLUL	OMIM:610015
HP:0002395	Lower limb hyperreflexia	4204	MECP2	ORPHA:3077
HP:0002395	Lower limb hyperreflexia	9711	RUBCN	OMIM:615705
HP:0002395	Lower limb hyperreflexia	10280	SIGMAR1	OMIM:605726
HP:0002395	Lower limb hyperreflexia	200205	IBA57	ORPHA:468661
HP:0002395	Lower limb hyperreflexia	4841	NONO	ORPHA:466791
HP:0002395	Lower limb hyperreflexia	1327	COX4I1	OMIM:619060
HP:0002395	Lower limb hyperreflexia	3074	HEXB	ORPHA:309155
HP:0002395	Lower limb hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0002395	Lower limb hyperreflexia	55149	MTPAP	OMIM:613672
HP:0002395	Lower limb hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0002395	Lower limb hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0002395	Lower limb hyperreflexia	6389	SDHA	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	6390	SDHB	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	6392	SDHD	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	5238	PGM3	ORPHA:443811
HP:0002395	Lower limb hyperreflexia	3035	HARS1	OMIM:614504
HP:0002395	Lower limb hyperreflexia	3035	HARS1	OMIM:616625
HP:0002395	Lower limb hyperreflexia	5832	ALDH18A1	ORPHA:447757
HP:0002395	Lower limb hyperreflexia	55129	ANO10	OMIM:613728
HP:0002395	Lower limb hyperreflexia	26278	SACS	OMIM:270550
HP:0002396	Cogwheel rigidity	291	SLC25A4	ORPHA:254892
HP:0002396	Cogwheel rigidity	5428	POLG	ORPHA:254892
HP:0002396	Cogwheel rigidity	5428	POLG	ORPHA:254886
HP:0002396	Cogwheel rigidity	56652	TWNK	ORPHA:254892
HP:0002396	Cogwheel rigidity	11232	POLG2	ORPHA:254892
HP:0002396	Cogwheel rigidity	50484	RRM2B	ORPHA:254892
HP:0002396	Cogwheel rigidity	3752	KCND3	ORPHA:98772
HP:0002396	Cogwheel rigidity	3752	KCND3	OMIM:607346
HP:0002396	Cogwheel rigidity	4311	MME	ORPHA:497764
HP:0002396	Cogwheel rigidity	2643	GCH1	OMIM:128230
HP:0002396	Cogwheel rigidity	7084	TK2	ORPHA:254886
HP:0002396	Cogwheel rigidity	4508	MT-ATP6	ORPHA:225154
HP:0002396	Cogwheel rigidity	23636	NUP62	ORPHA:225154
HP:0002396	Cogwheel rigidity	103	ADAR	ORPHA:225154
HP:0002396	Cogwheel rigidity	10159	ATP6AP2	OMIM:300911
HP:0002396	Cogwheel rigidity	10159	ATP6AP2	ORPHA:363654
HP:0002396	Cogwheel rigidity	1600	DAB1	ORPHA:363710
HP:0002396	Cogwheel rigidity	3739	KCNA4	OMIM:618284
HP:0002396	Cogwheel rigidity	23732	FRRS1L	OMIM:616981
HP:0002396	Cogwheel rigidity	116442	RAB39B	ORPHA:2379
HP:0002396	Cogwheel rigidity	116442	RAB39B	OMIM:311510
HP:0002396	Cogwheel rigidity	1356	CP	OMIM:604290
HP:0002396	Cogwheel rigidity	6531	SLC6A3	OMIM:613135
HP:0002396	Cogwheel rigidity	3781	KCNN2	OMIM:619725
HP:0002396	Cogwheel rigidity	339453	TMEM240	OMIM:607454
HP:0002396	Cogwheel rigidity	6335	SCN9A	ORPHA:33069
HP:0002396	Cogwheel rigidity	6326	SCN2A	ORPHA:33069
HP:0002396	Cogwheel rigidity	2554	GABRA1	ORPHA:33069
HP:0002396	Cogwheel rigidity	6323	SCN1A	ORPHA:33069
HP:0002396	Cogwheel rigidity	6324	SCN1B	ORPHA:33069
HP:0002396	Cogwheel rigidity	57526	PCDH19	ORPHA:33069
HP:0002396	Cogwheel rigidity	2566	GABRG2	ORPHA:33069
HP:0002396	Cogwheel rigidity	80704	SLC19A3	OMIM:607483
HP:0002398	Degeneration of anterior horn cells	23064	SETX	OMIM:602433
HP:0002398	Degeneration of anterior horn cells	427	ASAH1	OMIM:159950
HP:0002398	Degeneration of anterior horn cells	7317	UBA1	OMIM:301830
HP:0002398	Degeneration of anterior horn cells	7317	UBA1	ORPHA:1145
HP:0002398	Degeneration of anterior horn cells	65250	CPLANE1	ORPHA:65684
HP:0002398	Degeneration of anterior horn cells	57562	CEP126	ORPHA:65684
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:253550
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:271150
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:253400
HP:0002398	Degeneration of anterior horn cells	11340	EXOSC8	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	5393	EXOSC9	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	23287	AGTPBP1	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	51010	EXOSC3	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	7443	VRK1	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	7443	VRK1	OMIM:607596
HP:0002398	Degeneration of anterior horn cells	91137	SLC25A46	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	10342	TFG	OMIM:604484
HP:0002398	Degeneration of anterior horn cells	6647	SOD1	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	5630	PRPH	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	1639	DCTN1	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	4744	NEFH	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	311	ANXA11	OMIM:617839
HP:0002398	Degeneration of anterior horn cells	4287	ATXN3	ORPHA:276244
HP:0002398	Degeneration of anterior horn cells	3508	IGHMBP2	OMIM:604320
HP:0002398	Degeneration of anterior horn cells	6607	SMN2	OMIM:253400
HP:0009555	Hypoplasia of the pharynx	6949	TCOF1	OMIM:154500
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009556	Absent tibia	64327	LMBR1	OMIM:135750
HP:0009556	Absent tibia	64327	LMBR1	OMIM:188740
HP:0009556	Absent tibia	64327	LMBR1	ORPHA:2378
HP:0009556	Absent tibia	79659	DYNC2H1	OMIM:613091
HP:0009556	Absent tibia	538	ATP7A	ORPHA:198
HP:0009556	Absent tibia	5307	PITX1	OMIM:119800
HP:0009556	Absent tibia	55636	CHD7	OMIM:214800
HP:0009556	Absent tibia	2737	GLI3	ORPHA:93322
HP:0009565	Aplasia of the distal phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009565	Aplasia of the distal phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009566	Short distal phalanx of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009566	Short distal phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0025201	Abnormal circulating apolipoprotein concentration	4547	MTTP	ORPHA:14
HP:0025201	Abnormal circulating apolipoprotein concentration	23545	ATP6V0A2	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	523	ATP6V1A	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	529	ATP6V1E1	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	4023	LPL	OMIM:144250
HP:0025201	Abnormal circulating apolipoprotein concentration	335	APOA1	OMIM:619836
HP:0025201	Abnormal circulating apolipoprotein concentration	19	ABCA1	OMIM:205400
HP:0025201	Abnormal circulating apolipoprotein concentration	344	APOC2	OMIM:207750
HP:0025201	Abnormal circulating apolipoprotein concentration	22948	CCT5	OMIM:256840
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	650	BMP2	OMIM:112600
HP:0009576	Absent middle phalanx of 2nd finger	9896	FIG4	OMIM:216340
HP:0009576	Absent middle phalanx of 2nd finger	50814	NSDHL	OMIM:308050
HP:0009576	Absent middle phalanx of 2nd finger	9742	IFT140	OMIM:266920
HP:0009577	Short middle phalanx of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009577	Short middle phalanx of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009577	Short middle phalanx of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009577	Short middle phalanx of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009577	Short middle phalanx of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009577	Short middle phalanx of the 2nd finger	8200	GDF5	OMIM:615072
HP:0009577	Short middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009577	Short middle phalanx of the 2nd finger	27152	INTU	OMIM:617926
HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009588	Vestibular schwannoma	3735	KARS1	OMIM:613641
HP:0009588	Vestibular schwannoma	161742	SPRED1	ORPHA:137605
HP:0009588	Vestibular schwannoma	3265	HRAS	OMIM:218040
HP:0009588	Vestibular schwannoma	6598	SMARCB1	OMIM:162091
HP:0009588	Vestibular schwannoma	4771	NF2	OMIM:101000
HP:0009589	Bilateral vestibular schwannoma	4771	NF2	ORPHA:637
HP:0009589	Bilateral vestibular schwannoma	4771	NF2	OMIM:101000
HP:0009590	Unilateral vestibular schwannoma	4771	NF2	OMIM:101000
HP:0009591	Abnormality of the vestibulocochlear nerve	3735	KARS1	OMIM:613641
HP:0009591	Abnormality of the vestibulocochlear nerve	161742	SPRED1	ORPHA:137605
HP:0009591	Abnormality of the vestibulocochlear nerve	3265	HRAS	OMIM:218040
HP:0009591	Abnormality of the vestibulocochlear nerve	6598	SMARCB1	OMIM:162091
HP:0009591	Abnormality of the vestibulocochlear nerve	4771	NF2	OMIM:101000
HP:0009591	Abnormality of the vestibulocochlear nerve	22943	DKK1	ORPHA:268882
HP:0009591	Abnormality of the vestibulocochlear nerve	1690	COCH	OMIM:601369
HP:0009591	Abnormality of the vestibulocochlear nerve	5621	PRNP	ORPHA:282166
HP:0009592	Astrocytoma	2956	MSH6	OMIM:619097
HP:0009592	Astrocytoma	4763	NF1	OMIM:162200
HP:0009592	Astrocytoma	7157	TP53	OMIM:137800
HP:0009592	Astrocytoma	7157	TP53	ORPHA:524
HP:0009592	Astrocytoma	2064	ERBB2	OMIM:137800
HP:0009592	Astrocytoma	3417	IDH1	OMIM:137800
HP:0009592	Astrocytoma	3417	IDH1	ORPHA:163634
HP:0009592	Astrocytoma	1029	CDKN2A	OMIM:155755
HP:0009592	Astrocytoma	1029	CDKN2A	ORPHA:524
HP:0009592	Astrocytoma	25913	POT1	OMIM:616568
HP:0009592	Astrocytoma	7249	TSC2	OMIM:613254
HP:0009592	Astrocytoma	3458	IFNG	OMIM:613254
HP:0009592	Astrocytoma	324	APC	ORPHA:99818
HP:0009592	Astrocytoma	324	APC	OMIM:175100
HP:0009592	Astrocytoma	324	APC	ORPHA:247806
HP:0009592	Astrocytoma	324	APC	ORPHA:79665
HP:0009592	Astrocytoma	4292	MLH1	OMIM:276300
HP:0009592	Astrocytoma	64324	NSD1	ORPHA:821
HP:0009592	Astrocytoma	29072	SETD2	ORPHA:821
HP:0009592	Astrocytoma	10297	APC2	ORPHA:821
HP:0009592	Astrocytoma	4193	MDM2	ORPHA:524
HP:0009592	Astrocytoma	11200	CHEK2	ORPHA:524
HP:0009592	Astrocytoma	5395	PMS2	OMIM:619101
HP:0009592	Astrocytoma	4437	MSH3	OMIM:617100
HP:0009592	Astrocytoma	4437	MSH3	ORPHA:480536
HP:0009592	Astrocytoma	2260	FGFR1	OMIM:613001
HP:0009592	Astrocytoma	7248	TSC1	OMIM:191100
HP:0009592	Astrocytoma	3418	IDH2	ORPHA:163634
HP:0009592	Astrocytoma	675	BRCA2	OMIM:613029
HP:0009592	Astrocytoma	4771	NF2	ORPHA:637
HP:0009592	Astrocytoma	4771	NF2	OMIM:101000
HP:0009593	Peripheral schwannoma	4771	NF2	ORPHA:637
HP:0009593	Peripheral schwannoma	4771	NF2	OMIM:162091
HP:0009593	Peripheral schwannoma	4771	NF2	OMIM:101000
HP:0009593	Peripheral schwannoma	6598	SMARCB1	OMIM:162091
HP:0009594	Retinal hamartoma	7249	TSC2	OMIM:613254
HP:0009594	Retinal hamartoma	7249	TSC2	ORPHA:805
HP:0009594	Retinal hamartoma	7249	TSC2	ORPHA:538
HP:0009594	Retinal hamartoma	3458	IFNG	OMIM:613254
HP:0009594	Retinal hamartoma	3458	IFNG	ORPHA:805
HP:0009594	Retinal hamartoma	7248	TSC1	ORPHA:805
HP:0009594	Retinal hamartoma	7248	TSC1	ORPHA:538
HP:0009594	Retinal hamartoma	4771	NF2	ORPHA:637
HP:0009594	Retinal hamartoma	4771	NF2	OMIM:101000
HP:0009594	Retinal hamartoma	5728	PTEN	ORPHA:744
HP:0009594	Retinal hamartoma	207	AKT1	ORPHA:744
HP:0009594	Retinal hamartoma	7428	VHL	ORPHA:892
HP:0009594	Retinal hamartoma	7428	VHL	ORPHA:29072
HP:0009594	Retinal hamartoma	7428	VHL	OMIM:193300
HP:0009594	Retinal hamartoma	595	CCND1	ORPHA:892
HP:0009594	Retinal hamartoma	595	CCND1	OMIM:193300
HP:0009594	Retinal hamartoma	1743	DLST	ORPHA:29072
HP:0009594	Retinal hamartoma	4191	MDH2	ORPHA:29072
HP:0009594	Retinal hamartoma	5979	RET	ORPHA:29072
HP:0009594	Retinal hamartoma	6389	SDHA	ORPHA:29072
HP:0009594	Retinal hamartoma	23095	KIF1B	ORPHA:29072
HP:0009594	Retinal hamartoma	2271	FH	ORPHA:29072
HP:0009594	Retinal hamartoma	8402	SLC25A11	ORPHA:29072
HP:0009594	Retinal hamartoma	54949	SDHAF2	ORPHA:29072
HP:0009594	Retinal hamartoma	55654	TMEM127	ORPHA:29072
HP:0009594	Retinal hamartoma	4763	NF1	ORPHA:29072
HP:0009594	Retinal hamartoma	6391	SDHC	ORPHA:29072
HP:0009594	Retinal hamartoma	6392	SDHD	ORPHA:29072
HP:0009594	Retinal hamartoma	6390	SDHB	ORPHA:29072
HP:0009594	Retinal hamartoma	4149	MAX	ORPHA:29072
HP:0009595	Occasional neurofibromas	4771	NF2	OMIM:101000
HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009597	Short proximal phalanx of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009599	Abnormality of thumb epiphysis	8200	GDF5	ORPHA:93384
HP:0009599	Abnormality of thumb epiphysis	658	BMPR1B	ORPHA:93384
HP:0009599	Abnormality of thumb epiphysis	3756	KCNH1	OMIM:611816
HP:0025230	Tendonitis	64127	NOD2	OMIM:186580
HP:0025231	Abnormal synovial bursa morphology	2131	EXT1	ORPHA:321
HP:0025231	Abnormal synovial bursa morphology	2132	EXT2	ORPHA:321
HP:0025231	Abnormal synovial bursa morphology	165	AEBP1	ORPHA:536532
HP:0025231	Abnormal synovial bursa morphology	165	AEBP1	OMIM:618000
HP:0025231	Abnormal synovial bursa morphology	6711	SPTBN1	OMIM:619475
HP:0025232	Bursitis	2131	EXT1	ORPHA:321
HP:0025232	Bursitis	2132	EXT2	ORPHA:321
HP:0025232	Bursitis	165	AEBP1	ORPHA:536532
HP:0025232	Bursitis	165	AEBP1	OMIM:618000
HP:0025232	Bursitis	6711	SPTBN1	OMIM:619475
HP:0025233	Sleep paralysis	3060	HCRT	OMIM:161400
HP:0025233	Sleep paralysis	4340	MOG	OMIM:614250
HP:0025233	Sleep paralysis	1786	DNMT1	OMIM:604121
HP:0025234	Parasomnia	7021	TFAP2B	OMIM:169100
HP:0025234	Parasomnia	1137	CHRNA4	ORPHA:98784
HP:0025234	Parasomnia	1135	CHRNA2	ORPHA:98784
HP:0025234	Parasomnia	57010	CABP4	ORPHA:98784
HP:0025234	Parasomnia	1141	CHRNB2	ORPHA:98784
HP:0025234	Parasomnia	57582	KCNT1	ORPHA:98784
HP:0025234	Parasomnia	1392	CRH	ORPHA:98784
HP:0025234	Parasomnia	9681	DEPDC5	ORPHA:98784
HP:0025234	Parasomnia	6492	SIM1	ORPHA:398079
HP:0025234	Parasomnia	54551	MAGEL2	ORPHA:398069
HP:0025234	Parasomnia	10165	SLC25A13	ORPHA:247585
HP:0025234	Parasomnia	6608	SMO	OMIM:241800
HP:0025234	Parasomnia	123263	MTFMT	OMIM:614947
HP:0025235	Non-rapid eye movement parasomnia	1137	CHRNA4	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	1135	CHRNA2	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	57010	CABP4	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	1141	CHRNB2	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	57582	KCNT1	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	1392	CRH	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	9681	DEPDC5	ORPHA:98784
HP:0025235	Non-rapid eye movement parasomnia	6492	SIM1	ORPHA:398079
HP:0025235	Non-rapid eye movement parasomnia	54551	MAGEL2	ORPHA:398069
HP:0025235	Non-rapid eye movement parasomnia	10165	SLC25A13	ORPHA:247585
HP:0025235	Non-rapid eye movement parasomnia	6608	SMO	OMIM:241800
HP:0025235	Non-rapid eye movement parasomnia	123263	MTFMT	OMIM:614947
HP:0025236	Somnambulism	1137	CHRNA4	ORPHA:98784
HP:0025236	Somnambulism	1135	CHRNA2	ORPHA:98784
HP:0025236	Somnambulism	57010	CABP4	ORPHA:98784
HP:0025236	Somnambulism	1141	CHRNB2	ORPHA:98784
HP:0025236	Somnambulism	57582	KCNT1	ORPHA:98784
HP:0025236	Somnambulism	1392	CRH	ORPHA:98784
HP:0025236	Somnambulism	9681	DEPDC5	ORPHA:98784
HP:0025237	Confusional arousal	6492	SIM1	ORPHA:398079
HP:0025237	Confusional arousal	1137	CHRNA4	ORPHA:98784
HP:0025237	Confusional arousal	1135	CHRNA2	ORPHA:98784
HP:0025237	Confusional arousal	57010	CABP4	ORPHA:98784
HP:0025237	Confusional arousal	1141	CHRNB2	ORPHA:98784
HP:0025237	Confusional arousal	57582	KCNT1	ORPHA:98784
HP:0025237	Confusional arousal	1392	CRH	ORPHA:98784
HP:0025237	Confusional arousal	9681	DEPDC5	ORPHA:98784
HP:0025237	Confusional arousal	54551	MAGEL2	ORPHA:398069
HP:0025238	Foot pain	1298	COL9A2	OMIM:600204
HP:0025238	Foot pain	9927	MFN2	ORPHA:99947
HP:0025238	Foot pain	3852	KRT5	ORPHA:79400
HP:0025238	Foot pain	3861	KRT14	ORPHA:79400
HP:0025244	Subretinal pigment epithelium hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0025244	Subretinal pigment epithelium hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0025244	Subretinal pigment epithelium hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0025245	Cutaneous cyst	81839	VANGL1	OMIM:600145
HP:0025245	Cutaneous cyst	7020	TFAP2A	OMIM:113620
HP:0025245	Cutaneous cyst	257	ALX3	ORPHA:391474
HP:0025245	Cutaneous cyst	4488	MSX2	OMIM:168550
HP:0025245	Cutaneous cyst	57688	ZSWIM6	ORPHA:1827
HP:0025245	Cutaneous cyst	6857	SYT1	ORPHA:522077
HP:0025245	Cutaneous cyst	324	APC	ORPHA:261584
HP:0025245	Cutaneous cyst	324	APC	ORPHA:99818
HP:0025245	Cutaneous cyst	324	APC	OMIM:175100
HP:0025245	Cutaneous cyst	324	APC	ORPHA:247806
HP:0025245	Cutaneous cyst	324	APC	ORPHA:79665
HP:0025245	Cutaneous cyst	9702	CEP57	OMIM:614114
HP:0025245	Cutaneous cyst	84168	ANTXR1	OMIM:230740
HP:0025245	Cutaneous cyst	3458	IFNG	ORPHA:805
HP:0025245	Cutaneous cyst	7248	TSC1	ORPHA:805
HP:0025245	Cutaneous cyst	7249	TSC2	ORPHA:805
HP:0025245	Cutaneous cyst	3872	KRT17	OMIM:167210
HP:0025245	Cutaneous cyst	3872	KRT17	ORPHA:2309
HP:0025245	Cutaneous cyst	3868	KRT16	ORPHA:2309
HP:0025245	Cutaneous cyst	3853	KRT6A	ORPHA:2309
HP:0025245	Cutaneous cyst	3854	KRT6B	ORPHA:2309
HP:0025245	Cutaneous cyst	56983	POGLUT1	ORPHA:79145
HP:0025245	Cutaneous cyst	3852	KRT5	ORPHA:79145
HP:0025245	Cutaneous cyst	23509	POFUT1	ORPHA:79145
HP:0025245	Cutaneous cyst	55851	PSENEN	ORPHA:79145
HP:0025245	Cutaneous cyst	1500	CTNND1	ORPHA:1997
HP:0025245	Cutaneous cyst	999	CDH1	ORPHA:1997
HP:0025247	Dermoid cyst	81839	VANGL1	OMIM:600145
HP:0025247	Dermoid cyst	7020	TFAP2A	OMIM:113620
HP:0025247	Dermoid cyst	257	ALX3	ORPHA:391474
HP:0025247	Dermoid cyst	4488	MSX2	OMIM:168550
HP:0025247	Dermoid cyst	57688	ZSWIM6	ORPHA:1827
HP:0025247	Dermoid cyst	6857	SYT1	ORPHA:522077
HP:0025248	Eruptive vellus hair cyst	3868	KRT16	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3872	KRT17	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3853	KRT6A	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3854	KRT6B	ORPHA:2309
HP:0025249	Comedo	91754	NEK9	ORPHA:64754
HP:0025249	Comedo	4035	LRP1	OMIM:604093
HP:0025249	Comedo	10161	LPAR6	OMIM:278150
HP:0025249	Comedo	200879	LIPH	OMIM:604379
HP:0025252	Geographic tongue	26525	IL36RN	OMIM:614204
HP:0025258	Stiff neck	91754	NEK9	OMIM:617022
HP:0025258	Stiff neck	4722	NDUFS3	OMIM:618230
HP:0025258	Stiff neck	1280	COL2A1	OMIM:616583
HP:0025258	Stiff neck	22943	DKK1	ORPHA:268882
HP:0025258	Stiff neck	54820	NDE1	ORPHA:2177
HP:0025259	Stiff elbow	6926	TBX3	OMIM:181450
HP:0025259	Stiff elbow	26040	SETBP1	ORPHA:798
HP:0025262	Stiff hip	8398	PLA2G6	ORPHA:199351
HP:0025263	Stiff knee	6399	TRAPPC2	ORPHA:93284
HP:0025264	Stiff ankle	1836	SLC26A2	ORPHA:93307
HP:0008480	Cervical spondylosis	5654	HTRA1	ORPHA:199354
HP:0025267	Snoring	27245	AHDC1	ORPHA:412069
HP:0025267	Snoring	27245	AHDC1	OMIM:615829
HP:0025267	Snoring	5332	PLCB4	OMIM:614669
HP:0025267	Snoring	5332	PLCB4	ORPHA:137888
HP:0025267	Snoring	1906	EDN1	ORPHA:137888
HP:0025267	Snoring	2773	GNAI3	ORPHA:137888
HP:0025267	Snoring	2773	GNAI3	OMIM:602483
HP:0025267	Snoring	341208	HEPHL1	OMIM:261990
HP:0025267	Snoring	83550	GPR101	OMIM:300942
HP:0025267	Snoring	2990	GUSB	OMIM:253220
HP:0025268	Stuttering	23431	AP4E1	OMIM:184450
HP:0025268	Stuttering	4558	MT-TF	ORPHA:550
HP:0025268	Stuttering	4572	MT-TQ	ORPHA:550
HP:0025268	Stuttering	4512	MT-CO1	ORPHA:550
HP:0025268	Stuttering	4513	MT-CO2	ORPHA:550
HP:0025268	Stuttering	4514	MT-CO3	ORPHA:550
HP:0025268	Stuttering	4578	MT-TW	ORPHA:550
HP:0025268	Stuttering	4540	MT-ND5	ORPHA:550
HP:0025268	Stuttering	4541	MT-ND6	ORPHA:550
HP:0025268	Stuttering	4535	MT-ND1	ORPHA:550
HP:0025268	Stuttering	4538	MT-ND4	ORPHA:550
HP:0025268	Stuttering	4567	MT-TL1	ORPHA:550
HP:0025268	Stuttering	4574	MT-TS1	ORPHA:550
HP:0025268	Stuttering	4575	MT-TS2	ORPHA:550
HP:0025268	Stuttering	4564	MT-TH	ORPHA:550
HP:0025268	Stuttering	284058	KANSL1	ORPHA:363965
HP:0025268	Stuttering	284058	KANSL1	ORPHA:363958
HP:0025268	Stuttering	3074	HEXB	ORPHA:309169
HP:0025268	Stuttering	340533	NEXMIF	OMIM:300912
HP:0025268	Stuttering	64324	NSD1	OMIM:117550
HP:0025268	Stuttering	6999	TDO2	OMIM:600627
HP:0025268	Stuttering	81887	LAS1L	OMIM:309585
HP:0025268	Stuttering	1107	CHD3	OMIM:618205
HP:0025268	Stuttering	4137	MAPT	ORPHA:240112
HP:0025268	Stuttering	57410	SCYL1	OMIM:616719
HP:0025268	Stuttering	57410	SCYL1	ORPHA:466794
HP:0025269	Panic attack	25792	CIZ1	ORPHA:420492
HP:0025269	Panic attack	6792	CDKL5	ORPHA:3095
HP:0025269	Panic attack	22854	NTNG1	ORPHA:3095
HP:0025269	Panic attack	9568	GABBR2	ORPHA:3095
HP:0025269	Panic attack	4204	MECP2	ORPHA:3095
HP:0025269	Panic attack	8243	SMC1A	ORPHA:3095
HP:0025269	Panic attack	23111	SPART	ORPHA:101000
HP:0025269	Panic attack	84196	USP48	ORPHA:96253
HP:0025269	Panic attack	7157	TP53	ORPHA:96253
HP:0025269	Panic attack	7157	TP53	ORPHA:1501
HP:0025269	Panic attack	9101	USP8	ORPHA:96253
HP:0025269	Panic attack	64072	CDH23	ORPHA:96253
HP:0025269	Panic attack	2908	NR3C1	ORPHA:96253
HP:0025269	Panic attack	673	BRAF	ORPHA:96253
HP:0025269	Panic attack	546	ATRX	ORPHA:96253
HP:0025269	Panic attack	1813	DRD2	ORPHA:36899
HP:0025269	Panic attack	8910	SGCE	ORPHA:36899
HP:0025269	Panic attack	8910	SGCE	OMIM:159900
HP:0025269	Panic attack	79734	KCTD17	ORPHA:36899
HP:0025269	Panic attack	1861	TOR1A	ORPHA:36899
HP:0025269	Panic attack	1387	CREBBP	ORPHA:353281
HP:0025269	Panic attack	1387	CREBBP	ORPHA:353277
HP:0025269	Panic attack	23384	SPECC1L	OMIM:145420
HP:0025269	Panic attack	7428	VHL	ORPHA:29072
HP:0025269	Panic attack	7428	VHL	ORPHA:276621
HP:0025269	Panic attack	1743	DLST	ORPHA:29072
HP:0025269	Panic attack	4191	MDH2	ORPHA:29072
HP:0025269	Panic attack	5979	RET	ORPHA:29072
HP:0025269	Panic attack	5979	RET	ORPHA:276621
HP:0025269	Panic attack	6389	SDHA	ORPHA:29072
HP:0025269	Panic attack	23095	KIF1B	ORPHA:29072
HP:0025269	Panic attack	2271	FH	ORPHA:29072
HP:0025269	Panic attack	8402	SLC25A11	ORPHA:29072
HP:0025269	Panic attack	54949	SDHAF2	ORPHA:29072
HP:0025269	Panic attack	55654	TMEM127	ORPHA:29072
HP:0025269	Panic attack	4763	NF1	ORPHA:29072
HP:0025269	Panic attack	6391	SDHC	ORPHA:29072
HP:0025269	Panic attack	6392	SDHD	ORPHA:29072
HP:0025269	Panic attack	6392	SDHD	ORPHA:276621
HP:0025269	Panic attack	6390	SDHB	ORPHA:29072
HP:0025269	Panic attack	6390	SDHB	ORPHA:276621
HP:0025269	Panic attack	4149	MAX	ORPHA:29072
HP:0025269	Panic attack	2033	EP300	ORPHA:353284
HP:0025269	Panic attack	54832	VPS13C	ORPHA:2828
HP:0025269	Panic attack	11315	PARK7	ORPHA:2828
HP:0025269	Panic attack	7345	UCHL1	ORPHA:2828
HP:0025269	Panic attack	27429	HTRA2	ORPHA:2828
HP:0025269	Panic attack	120892	LRRK2	ORPHA:2828
HP:0025269	Panic attack	9829	DNAJC6	ORPHA:2828
HP:0025269	Panic attack	6622	SNCA	ORPHA:2828
HP:0025269	Panic attack	5420	PODXL	ORPHA:2828
HP:0025269	Panic attack	65018	PINK1	ORPHA:2828
HP:0025269	Panic attack	8867	SYNJ1	ORPHA:2828
HP:0025269	Panic attack	5071	PRKN	ORPHA:2828
HP:0025269	Panic attack	3781	KCNN2	OMIM:619725
HP:0025269	Panic attack	1788	DNMT3A	ORPHA:276621
HP:0025269	Panic attack	2034	EPAS1	ORPHA:276621
HP:0025269	Panic attack	84133	ZNRF3	ORPHA:1501
HP:0025269	Panic attack	5573	PRKAR1A	ORPHA:1501
HP:0025269	Panic attack	1499	CTNNB1	ORPHA:1501
HP:0025269	Panic attack	1029	CDKN2A	ORPHA:1501
HP:0025269	Panic attack	7015	TERT	ORPHA:1501
HP:0025270	Abnormal esophagus physiology	1497	CTNS	OMIM:219800
HP:0025270	Abnormal esophagus physiology	2673	GFPT1	OMIM:608931
HP:0025270	Abnormal esophagus physiology	1145	CHRNE	OMIM:608931
HP:0025270	Abnormal esophagus physiology	1145	CHRNE	OMIM:605809
HP:0025270	Abnormal esophagus physiology	1410	CRYAB	OMIM:608810
HP:0025270	Abnormal esophagus physiology	1410	CRYAB	ORPHA:399058
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	OMIM:109150
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276238
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276244
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276241
HP:0025270	Abnormal esophagus physiology	55703	POLR3B	OMIM:614381
HP:0025270	Abnormal esophagus physiology	55703	POLR3B	OMIM:607694
HP:0025270	Abnormal esophagus physiology	26235	FBXL4	OMIM:615471
HP:0025270	Abnormal esophagus physiology	1144	CHRND	OMIM:616321
HP:0025270	Abnormal esophagus physiology	1144	CHRND	OMIM:616323
HP:0025270	Abnormal esophagus physiology	4750	NEK1	OMIM:617892
HP:0025270	Abnormal esophagus physiology	23446	SLC44A1	OMIM:618868
HP:0025270	Abnormal esophagus physiology	4593	MUSK	OMIM:616325
HP:0025270	Abnormal esophagus physiology	2720	GLB1	OMIM:230600
HP:0025270	Abnormal esophagus physiology	1134	CHRNA1	OMIM:608930
HP:0025270	Abnormal esophagus physiology	1134	CHRNA1	OMIM:601462
HP:0025270	Abnormal esophagus physiology	57679	ALS2	ORPHA:247604
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:205100
HP:0025270	Abnormal esophagus physiology	57679	ALS2	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:607225
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:606353
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:247604
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:280384
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:209951
HP:0025270	Abnormal esophagus physiology	9499	MYOT	ORPHA:266
HP:0025270	Abnormal esophagus physiology	5339	PLEC	ORPHA:254361
HP:0025270	Abnormal esophagus physiology	6687	SPG7	ORPHA:99013
HP:0025270	Abnormal esophagus physiology	6687	SPG7	OMIM:607259
HP:0025270	Abnormal esophagus physiology	6687	SPG7	ORPHA:35689
HP:0025270	Abnormal esophagus physiology	8291	DYSF	ORPHA:268
HP:0025270	Abnormal esophagus physiology	4535	MT-ND1	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4536	MT-ND2	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4537	MT-ND3	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4538	MT-ND4	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4567	MT-TL1	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4578	MT-TW	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4577	MT-TV	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4508	MT-ATP6	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4508	MT-ATP6	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	4540	MT-ND5	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4541	MT-ND6	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4566	MT-TK	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4312	MMP1	ORPHA:79408
HP:0025270	Abnormal esophagus physiology	4312	MMP1	OMIM:226600
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	ORPHA:79408
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	OMIM:226600
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	ORPHA:89842
HP:0025270	Abnormal esophagus physiology	3074	HEXB	ORPHA:309162
HP:0025270	Abnormal esophagus physiology	3074	HEXB	ORPHA:309169
HP:0025270	Abnormal esophagus physiology	79577	CDC73	ORPHA:143
HP:0025270	Abnormal esophagus physiology	79577	CDC73	ORPHA:99880
HP:0025270	Abnormal esophagus physiology	65993	MRPS34	OMIM:617664
HP:0025270	Abnormal esophagus physiology	6536	SLC6A9	OMIM:617301
HP:0025270	Abnormal esophagus physiology	10528	NOP56	OMIM:614153
HP:0025270	Abnormal esophagus physiology	10528	NOP56	ORPHA:276198
HP:0025270	Abnormal esophagus physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0025270	Abnormal esophagus physiology	1841	DTYMK	OMIM:619847
HP:0025270	Abnormal esophagus physiology	790	CAD	OMIM:616457
HP:0025270	Abnormal esophagus physiology	84466	MEGF10	OMIM:614399
HP:0025270	Abnormal esophagus physiology	51112	TRAPPC12	OMIM:617669
HP:0025270	Abnormal esophagus physiology	51112	TRAPPC12	ORPHA:500144
HP:0025270	Abnormal esophagus physiology	3908	LAMA2	ORPHA:258
HP:0025270	Abnormal esophagus physiology	5189	PEX1	OMIM:214100
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:298
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:258450
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:254886
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:157640
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:94125
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:607459
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:603041
HP:0025270	Abnormal esophagus physiology	1890	TYMP	ORPHA:298
HP:0025270	Abnormal esophagus physiology	1890	TYMP	OMIM:603041
HP:0025270	Abnormal esophagus physiology	3980	LIG3	ORPHA:298
HP:0025270	Abnormal esophagus physiology	3980	LIG3	OMIM:619780
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:298
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	OMIM:613077
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:329336
HP:0025270	Abnormal esophagus physiology	8575	PRKRA	ORPHA:210571
HP:0025270	Abnormal esophagus physiology	8575	PRKRA	OMIM:612067
HP:0025270	Abnormal esophagus physiology	79147	FKRP	OMIM:606612
HP:0025270	Abnormal esophagus physiology	348	APOE	OMIM:607822
HP:0025270	Abnormal esophagus physiology	5663	PSEN1	OMIM:607822
HP:0025270	Abnormal esophagus physiology	215	ABCD1	ORPHA:139396
HP:0025270	Abnormal esophagus physiology	7343	UBTF	OMIM:617672
HP:0025270	Abnormal esophagus physiology	7343	UBTF	ORPHA:500180
HP:0025270	Abnormal esophagus physiology	10352	WARS2	OMIM:619738
HP:0025270	Abnormal esophagus physiology	10352	WARS2	ORPHA:572798
HP:0025270	Abnormal esophagus physiology	3064	HTT	OMIM:617435
HP:0025270	Abnormal esophagus physiology	10939	AFG3L2	ORPHA:313772
HP:0025270	Abnormal esophagus physiology	10939	AFG3L2	OMIM:614487
HP:0025270	Abnormal esophagus physiology	83480	PUS3	ORPHA:488627
HP:0025270	Abnormal esophagus physiology	5621	PRNP	OMIM:600072
HP:0025270	Abnormal esophagus physiology	10049	DNAJB6	ORPHA:34516
HP:0025270	Abnormal esophagus physiology	10049	DNAJB6	OMIM:603511
HP:0025270	Abnormal esophagus physiology	4620	MYH2	OMIM:605637
HP:0025270	Abnormal esophagus physiology	857	CAV1	OMIM:606721
HP:0025270	Abnormal esophagus physiology	857	CAV1	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	857	CAV1	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	10935	PRDX3	OMIM:619862
HP:0025270	Abnormal esophagus physiology	4297	KMT2A	ORPHA:319182
HP:0025270	Abnormal esophagus physiology	246243	RNASEH1	OMIM:616479
HP:0025270	Abnormal esophagus physiology	246243	RNASEH1	ORPHA:329336
HP:0025270	Abnormal esophagus physiology	80208	SPG11	ORPHA:2822
HP:0025270	Abnormal esophagus physiology	80208	SPG11	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	80208	SPG11	OMIM:604360
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2783	GNB2	OMIM:619503
HP:0025270	Abnormal esophagus physiology	2260	FGFR1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2260	FGFR1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	23007	PLCH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	10735	STAG2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	10735	STAG2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	950	SCARB2	OMIM:254900
HP:0025270	Abnormal esophagus physiology	9897	WASHC5	OMIM:603563
HP:0025270	Abnormal esophagus physiology	8398	PLA2G6	ORPHA:199351
HP:0025270	Abnormal esophagus physiology	8398	PLA2G6	OMIM:610217
HP:0025270	Abnormal esophagus physiology	8622	PDE8B	ORPHA:228169
HP:0025270	Abnormal esophagus physiology	253738	EBF3	OMIM:617330
HP:0025270	Abnormal esophagus physiology	3572	IL6ST	OMIM:619751
HP:0025270	Abnormal esophagus physiology	2911	GRM1	OMIM:617691
HP:0025270	Abnormal esophagus physiology	55773	TBC1D23	OMIM:617695
HP:0025270	Abnormal esophagus physiology	23259	DDHD2	OMIM:615033
HP:0025270	Abnormal esophagus physiology	23259	DDHD2	ORPHA:320380
HP:0025270	Abnormal esophagus physiology	54902	TTC19	OMIM:615157
HP:0025270	Abnormal esophagus physiology	2643	GCH1	OMIM:233910
HP:0025270	Abnormal esophagus physiology	55823	VPS11	OMIM:619637
HP:0025270	Abnormal esophagus physiology	5590	PRKCZ	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	2563	GABRD	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	23013	SPEN	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	23013	SPEN	OMIM:619312
HP:0025270	Abnormal esophagus physiology	8510	MMP23B	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	7798	LUZP1	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	6497	SKI	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	10630	PDPN	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	3339	HSPG2	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	10277	UBE4B	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	8514	KCNAB2	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	473	RERE	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	473	RERE	ORPHA:494344
HP:0025270	Abnormal esophagus physiology	63976	PRDM16	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	54897	CASZ1	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	8659	ALDH4A1	ORPHA:79101
HP:0025270	Abnormal esophagus physiology	1180	CLCN1	OMIM:255700
HP:0025270	Abnormal esophagus physiology	58	ACTA1	OMIM:161800
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	5860	QDPR	ORPHA:226
HP:0025270	Abnormal esophagus physiology	5860	QDPR	OMIM:261630
HP:0025270	Abnormal esophagus physiology	7750	ZMYM2	OMIM:619522
HP:0025270	Abnormal esophagus physiology	56947	MFF	ORPHA:485421
HP:0025270	Abnormal esophagus physiology	56947	MFF	OMIM:617086
HP:0025270	Abnormal esophagus physiology	10342	TFG	ORPHA:90117
HP:0025270	Abnormal esophagus physiology	57462	MYORG	OMIM:618317
HP:0025270	Abnormal esophagus physiology	9562	MINPP1	OMIM:619527
HP:0025270	Abnormal esophagus physiology	540	ATP7B	OMIM:277900
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:271245
HP:0025270	Abnormal esophagus physiology	56652	TWNK	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:609286
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:607459
HP:0025270	Abnormal esophagus physiology	23314	SATB2	ORPHA:576283
HP:0025270	Abnormal esophagus physiology	4626	MYH8	OMIM:158300
HP:0025270	Abnormal esophagus physiology	4854	NOTCH3	ORPHA:136
HP:0025270	Abnormal esophagus physiology	57724	EPG5	OMIM:242840
HP:0025270	Abnormal esophagus physiology	1436	CSF1R	OMIM:221820
HP:0025270	Abnormal esophagus physiology	5354	PLP1	OMIM:312080
HP:0025270	Abnormal esophagus physiology	55612	FERMT1	ORPHA:2908
HP:0025270	Abnormal esophagus physiology	55612	FERMT1	OMIM:173650
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	OMIM:618323
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	ORPHA:251282
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	OMIM:108600
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	4123	MAN2C1	OMIM:619775
HP:0025270	Abnormal esophagus physiology	3798	KIF5A	OMIM:617235
HP:0025270	Abnormal esophagus physiology	339855	KY	OMIM:617114
HP:0025270	Abnormal esophagus physiology	339855	KY	ORPHA:496689
HP:0025270	Abnormal esophagus physiology	79977	GRHL2	OMIM:616029
HP:0025270	Abnormal esophagus physiology	7994	KAT6A	OMIM:616268
HP:0025270	Abnormal esophagus physiology	23499	MACF1	OMIM:618325
HP:0025270	Abnormal esophagus physiology	23499	MACF1	ORPHA:572013
HP:0025270	Abnormal esophagus physiology	23219	FBXO28	OMIM:619777
HP:0025270	Abnormal esophagus physiology	2055	CLN8	ORPHA:1947
HP:0025270	Abnormal esophagus physiology	51322	WAC	ORPHA:466950
HP:0025270	Abnormal esophagus physiology	5837	PYGM	ORPHA:368
HP:0025270	Abnormal esophagus physiology	2512	FTL	ORPHA:157846
HP:0025270	Abnormal esophagus physiology	2512	FTL	OMIM:606159
HP:0025270	Abnormal esophagus physiology	2629	GBA1	ORPHA:77260
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:230900
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:168600
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:608013
HP:0025270	Abnormal esophagus physiology	2629	GBA1	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	10533	ATG7	OMIM:619422
HP:0025270	Abnormal esophagus physiology	51117	COQ4	OMIM:616276
HP:0025270	Abnormal esophagus physiology	120	ADD3	OMIM:617008
HP:0025270	Abnormal esophagus physiology	27429	HTRA2	OMIM:617248
HP:0025270	Abnormal esophagus physiology	5081	PAX7	OMIM:618578
HP:0025270	Abnormal esophagus physiology	1674	DES	OMIM:181400
HP:0025270	Abnormal esophagus physiology	79751	SLC25A22	ORPHA:1935
HP:0025270	Abnormal esophagus physiology	150094	SIK1	ORPHA:1935
HP:0025270	Abnormal esophagus physiology	4001	LMNB1	ORPHA:99027
HP:0025270	Abnormal esophagus physiology	389827	MYMK	OMIM:254940
HP:0025270	Abnormal esophagus physiology	2639	GCDH	ORPHA:25
HP:0025270	Abnormal esophagus physiology	291	SLC25A4	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	11232	POLG2	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	4487	MSX1	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	5818	NECTIN1	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	8626	TP63	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	3664	IRF6	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	353116	RILPL1	OMIM:619790
HP:0025270	Abnormal esophagus physiology	23111	SPART	OMIM:275900
HP:0025270	Abnormal esophagus physiology	23111	SPART	ORPHA:101000
HP:0025270	Abnormal esophagus physiology	4137	MAPT	OMIM:601104
HP:0025270	Abnormal esophagus physiology	4137	MAPT	ORPHA:240112
HP:0025270	Abnormal esophagus physiology	4137	MAPT	ORPHA:240103
HP:0025270	Abnormal esophagus physiology	4137	MAPT	OMIM:168600
HP:0025270	Abnormal esophagus physiology	1499	CTNNB1	OMIM:615075
HP:0025270	Abnormal esophagus physiology	2775	GNAO1	OMIM:617493
HP:0025270	Abnormal esophagus physiology	56896	DPYSL5	OMIM:619435
HP:0025270	Abnormal esophagus physiology	54892	NCAPG2	OMIM:618460
HP:0025270	Abnormal esophagus physiology	1859	DYRK1A	ORPHA:268261
HP:0025270	Abnormal esophagus physiology	79912	PYROXD1	OMIM:617258
HP:0025270	Abnormal esophagus physiology	4719	NDUFS1	OMIM:618226
HP:0025270	Abnormal esophagus physiology	4703	NEB	OMIM:256030
HP:0025270	Abnormal esophagus physiology	4703	NEB	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	4703	NEB	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	1235	CCR6	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1235	CCR6	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	79932	KIAA0319L	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1490	CCN2	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1490	CCN2	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	3663	IRF5	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	3663	IRF5	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	3123	HLA-DRB1	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	3123	HLA-DRB1	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	170302	ARX	OMIM:308350
HP:0025270	Abnormal esophagus physiology	91942	NDUFAF2	OMIM:618233
HP:0025270	Abnormal esophagus physiology	60482	SLC5A7	OMIM:617143
HP:0025270	Abnormal esophagus physiology	60482	SLC5A7	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	7084	TK2	ORPHA:254886
HP:0025270	Abnormal esophagus physiology	7084	TK2	ORPHA:254875
HP:0025270	Abnormal esophagus physiology	7084	TK2	OMIM:617069
HP:0025270	Abnormal esophagus physiology	81790	RNF170	OMIM:619686
HP:0025270	Abnormal esophagus physiology	84909	AOPEP	OMIM:619565
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	OMIM:601338
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	OMIM:128235
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:1171
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:71517
HP:0025270	Abnormal esophagus physiology	283989	TSEN54	OMIM:225753
HP:0025270	Abnormal esophagus physiology	283989	TSEN54	OMIM:277470
HP:0025270	Abnormal esophagus physiology	25814	ATXN10	OMIM:603516
HP:0025270	Abnormal esophagus physiology	5649	RELN	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	10300	KATNB1	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	54820	NDE1	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	4722	NDUFS3	OMIM:618230
HP:0025270	Abnormal esophagus physiology	3930	LBR	ORPHA:779
HP:0025270	Abnormal esophagus physiology	710	SERPING1	ORPHA:100050
HP:0025270	Abnormal esophagus physiology	1760	DMPK	OMIM:160900
HP:0025270	Abnormal esophagus physiology	1760	DMPK	ORPHA:589821
HP:0025270	Abnormal esophagus physiology	387119	CEP85L	ORPHA:572013
HP:0025270	Abnormal esophagus physiology	6904	TBCD	ORPHA:496641
HP:0025270	Abnormal esophagus physiology	427	ASAH1	OMIM:159950
HP:0025270	Abnormal esophagus physiology	427	ASAH1	ORPHA:2590
HP:0025270	Abnormal esophagus physiology	10059	DNM1L	ORPHA:98673
HP:0025270	Abnormal esophagus physiology	4976	OPA1	ORPHA:98673
HP:0025270	Abnormal esophagus physiology	4976	OPA1	OMIM:210000
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:98794
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:98795
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:411511
HP:0025270	Abnormal esophagus physiology	4948	OCA2	ORPHA:98794
HP:0025270	Abnormal esophagus physiology	5980	REV3L	ORPHA:570
HP:0025270	Abnormal esophagus physiology	23129	PLXND1	ORPHA:570
HP:0025270	Abnormal esophagus physiology	65055	REEP1	ORPHA:101011
HP:0025270	Abnormal esophagus physiology	65055	REEP1	OMIM:610250
HP:0025270	Abnormal esophagus physiology	351	APP	ORPHA:324708
HP:0025270	Abnormal esophagus physiology	56915	EXOSC5	OMIM:619576
HP:0025270	Abnormal esophagus physiology	51132	RLIM	OMIM:300978
HP:0025270	Abnormal esophagus physiology	10588	MTHFS	OMIM:618367
HP:0025270	Abnormal esophagus physiology	4704	NDUFA9	OMIM:618247
HP:0025270	Abnormal esophagus physiology	29978	UBQLN2	OMIM:300857
HP:0025270	Abnormal esophagus physiology	8260	NAA10	OMIM:300855
HP:0025270	Abnormal esophagus physiology	182	JAG1	OMIM:619574
HP:0025270	Abnormal esophagus physiology	7170	TPM3	OMIM:609284
HP:0025270	Abnormal esophagus physiology	7170	TPM3	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	7170	TPM3	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	7170	TPM3	OMIM:255310
HP:0025270	Abnormal esophagus physiology	54834	GDAP2	OMIM:618369
HP:0025270	Abnormal esophagus physiology	1201	CLN3	ORPHA:228346
HP:0025270	Abnormal esophagus physiology	4864	NPC1	OMIM:257220
HP:0025270	Abnormal esophagus physiology	5277	PIGA	ORPHA:447
HP:0025270	Abnormal esophagus physiology	2131	EXT1	ORPHA:321
HP:0025270	Abnormal esophagus physiology	2132	EXT2	ORPHA:321
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:684
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:99735
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:99736
HP:0025270	Abnormal esophagus physiology	5805	PTS	ORPHA:13
HP:0025270	Abnormal esophagus physiology	5805	PTS	OMIM:261640
HP:0025270	Abnormal esophagus physiology	22827	PUF60	ORPHA:508488
HP:0025270	Abnormal esophagus physiology	51102	MECR	OMIM:617282
HP:0025270	Abnormal esophagus physiology	51102	MECR	ORPHA:508093
HP:0025270	Abnormal esophagus physiology	51324	SPG21	ORPHA:101001
HP:0025270	Abnormal esophagus physiology	51324	SPG21	OMIM:248900
HP:0025270	Abnormal esophagus physiology	5631	PRPS1	OMIM:301835
HP:0025270	Abnormal esophagus physiology	3977	LIFR	OMIM:601559
HP:0025270	Abnormal esophagus physiology	2906	GRIN2D	OMIM:617162
HP:0025270	Abnormal esophagus physiology	127833	SYT2	OMIM:619461
HP:0025270	Abnormal esophagus physiology	127833	SYT2	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	146206	CARMIL2	OMIM:618131
HP:0025270	Abnormal esophagus physiology	1822	ATN1	OMIM:618494
HP:0025270	Abnormal esophagus physiology	2705	GJB1	OMIM:302800
HP:0025270	Abnormal esophagus physiology	4761	NEUROD2	OMIM:618374
HP:0025270	Abnormal esophagus physiology	4700	NDUFA6	OMIM:618253
HP:0025270	Abnormal esophagus physiology	51305	KCNK9	ORPHA:166108
HP:0025270	Abnormal esophagus physiology	51305	KCNK9	OMIM:612292
HP:0025270	Abnormal esophagus physiology	1200	TPP1	OMIM:609270
HP:0025270	Abnormal esophagus physiology	6304	SATB1	OMIM:619229
HP:0025270	Abnormal esophagus physiology	220296	HEPACAM	OMIM:613925
HP:0025270	Abnormal esophagus physiology	26040	SETBP1	ORPHA:798
HP:0025270	Abnormal esophagus physiology	3028	HSD17B10	ORPHA:391428
HP:0025270	Abnormal esophagus physiology	4629	MYH11	OMIM:619350
HP:0025270	Abnormal esophagus physiology	9757	KMT2B	ORPHA:589618
HP:0025270	Abnormal esophagus physiology	6390	SDHB	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	6390	SDHB	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	6390	SDHB	OMIM:606764
HP:0025270	Abnormal esophagus physiology	6391	SDHC	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	6391	SDHC	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	6391	SDHC	OMIM:606764
HP:0025270	Abnormal esophagus physiology	6392	SDHD	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	55975	KLHL7	OMIM:617055
HP:0025270	Abnormal esophagus physiology	55697	VAC14	OMIM:617054
HP:0025270	Abnormal esophagus physiology	10526	IPO8	OMIM:619472
HP:0025270	Abnormal esophagus physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0025270	Abnormal esophagus physiology	2318	FLNC	ORPHA:63273
HP:0025270	Abnormal esophagus physiology	7345	UCHL1	OMIM:620221
HP:0025270	Abnormal esophagus physiology	283446	MYO1H	OMIM:619482
HP:0025270	Abnormal esophagus physiology	7204	TRIO	OMIM:617061
HP:0025270	Abnormal esophagus physiology	8567	MADD	OMIM:619004
HP:0025270	Abnormal esophagus physiology	29123	ANKRD11	ORPHA:261250
HP:0025270	Abnormal esophagus physiology	23230	VPS13A	OMIM:200150
HP:0025270	Abnormal esophagus physiology	23230	VPS13A	ORPHA:2388
HP:0025270	Abnormal esophagus physiology	498	ATP5F1A	OMIM:620358
HP:0025270	Abnormal esophagus physiology	2799	GNS	OMIM:252940
HP:0025270	Abnormal esophagus physiology	673	BRAF	OMIM:613706
HP:0025270	Abnormal esophagus physiology	1893	ECM1	ORPHA:530
HP:0025270	Abnormal esophagus physiology	1716	DGUOK	OMIM:617070
HP:0025270	Abnormal esophagus physiology	1716	DGUOK	ORPHA:329314
HP:0025270	Abnormal esophagus physiology	23636	NUP62	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	23636	NUP62	OMIM:271930
HP:0025270	Abnormal esophagus physiology	103	ADAR	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	72	ACTG2	OMIM:155310
HP:0025270	Abnormal esophagus physiology	10479	SLC9A6	ORPHA:85278
HP:0025270	Abnormal esophagus physiology	10479	SLC9A6	OMIM:300243
HP:0025270	Abnormal esophagus physiology	6389	SDHA	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	5156	PDGFRA	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	3815	KIT	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	3815	KIT	OMIM:606764
HP:0025270	Abnormal esophagus physiology	1984	EIF5A	OMIM:619376
HP:0025270	Abnormal esophagus physiology	10273	STUB1	ORPHA:412057
HP:0025270	Abnormal esophagus physiology	10273	STUB1	OMIM:618093
HP:0025270	Abnormal esophagus physiology	7415	VCP	OMIM:613954
HP:0025270	Abnormal esophagus physiology	7415	VCP	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	79651	RHBDF2	ORPHA:2198
HP:0025270	Abnormal esophagus physiology	138050	HGSNAT	OMIM:252930
HP:0025270	Abnormal esophagus physiology	84081	NSRP1	OMIM:620001
HP:0025270	Abnormal esophagus physiology	5216	PFN1	OMIM:614808
HP:0025270	Abnormal esophagus physiology	1678	TIMM8A	ORPHA:52368
HP:0025270	Abnormal esophagus physiology	1678	TIMM8A	OMIM:304700
HP:0025270	Abnormal esophagus physiology	4914	NTRK1	ORPHA:642
HP:0025270	Abnormal esophagus physiology	64432	MRPS25	OMIM:619025
HP:0025270	Abnormal esophagus physiology	84842	HPDL	OMIM:619027
HP:0025270	Abnormal esophagus physiology	2747	GLUD2	OMIM:168600
HP:0025270	Abnormal esophagus physiology	126	ADH1C	OMIM:168600
HP:0025270	Abnormal esophagus physiology	4929	NR4A2	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6908	TBP	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6908	TBP	OMIM:607136
HP:0025270	Abnormal esophagus physiology	4576	MT-TT	OMIM:168600
HP:0025270	Abnormal esophagus physiology	9627	SNCAIP	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6311	ATXN2	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6311	ATXN2	OMIM:183090
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	ORPHA:98760
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	OMIM:608768
HP:0025270	Abnormal esophagus physiology	4771	NF2	ORPHA:637
HP:0025270	Abnormal esophagus physiology	6622	SNCA	OMIM:168601
HP:0025270	Abnormal esophagus physiology	6622	SNCA	ORPHA:171695
HP:0025270	Abnormal esophagus physiology	6622	SNCA	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	5605	MAP2K2	ORPHA:638
HP:0025270	Abnormal esophagus physiology	4763	NF1	ORPHA:638
HP:0025270	Abnormal esophagus physiology	10128	LRPPRC	OMIM:220111
HP:0025270	Abnormal esophagus physiology	10128	LRPPRC	ORPHA:70472
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	OMIM:183086
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	ORPHA:98758
HP:0025270	Abnormal esophagus physiology	80308	FLAD1	OMIM:255100
HP:0025270	Abnormal esophagus physiology	9782	MATR3	OMIM:606070
HP:0025270	Abnormal esophagus physiology	9782	MATR3	ORPHA:600
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	OMIM:615911
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	ORPHA:276435
HP:0025270	Abnormal esophagus physiology	775	CACNA1C	OMIM:620029
HP:0025270	Abnormal esophagus physiology	2521	FUS	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	2521	FUS	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	8878	SQSTM1	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	8878	SQSTM1	OMIM:616437
HP:0025270	Abnormal esophagus physiology	23435	TARDBP	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	23435	TARDBP	OMIM:612069
HP:0025270	Abnormal esophagus physiology	29110	TBK1	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	29110	TBK1	OMIM:616439
HP:0025270	Abnormal esophagus physiology	5111	PCNA	OMIM:615919
HP:0025270	Abnormal esophagus physiology	4758	NEU1	ORPHA:93399
HP:0025270	Abnormal esophagus physiology	79581	SLC52A2	OMIM:614707
HP:0025270	Abnormal esophagus physiology	5660	PSAP	OMIM:249900
HP:0025270	Abnormal esophagus physiology	4281	MID1	OMIM:300000
HP:0025270	Abnormal esophagus physiology	4281	MID1	ORPHA:2745
HP:0025270	Abnormal esophagus physiology	10324	KLHL41	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	10324	KLHL41	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	131377	KLHL40	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	131377	KLHL40	OMIM:615348
HP:0025270	Abnormal esophagus physiology	56203	LMOD3	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	4649	MYO9A	OMIM:618198
HP:0025270	Abnormal esophagus physiology	4649	MYO9A	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	4010	LMX1B	ORPHA:495818
HP:0025270	Abnormal esophagus physiology	6812	STXBP1	ORPHA:495818
HP:0025270	Abnormal esophagus physiology	271	AMPD2	OMIM:615809
HP:0025270	Abnormal esophagus physiology	3119	HLA-DQB1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	9244	CRLF1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	3117	HLA-DQA1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	4842	NOS1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	7298	TYMS	OMIM:620040
HP:0025270	Abnormal esophagus physiology	2483	FRG1	OMIM:158900
HP:0025270	Abnormal esophagus physiology	64207	IRF2BPL	OMIM:618088
HP:0025270	Abnormal esophagus physiology	146862	UNC45B	OMIM:619178
HP:0025270	Abnormal esophagus physiology	5119	CHMP1A	OMIM:614961
HP:0025270	Abnormal esophagus physiology	23522	KAT6B	OMIM:606170
HP:0025270	Abnormal esophagus physiology	29967	LRP12	OMIM:164310
HP:0025270	Abnormal esophagus physiology	9570	GOSR2	OMIM:620166
HP:0025270	Abnormal esophagus physiology	2332	FMR1	ORPHA:93256
HP:0025270	Abnormal esophagus physiology	7466	WFS1	OMIM:222300
HP:0025270	Abnormal esophagus physiology	26278	SACS	ORPHA:98
HP:0025270	Abnormal esophagus physiology	9839	ZEB2	ORPHA:261552
HP:0025270	Abnormal esophagus physiology	9839	ZEB2	ORPHA:261537
HP:0025270	Abnormal esophagus physiology	57190	SELENON	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	4633	MYL2	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	3679	ITGA7	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	7169	TPM2	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	9200	HACD1	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	51776	MAP3K20	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	79152	FA2H	ORPHA:329308
HP:0025270	Abnormal esophagus physiology	23400	ATP13A2	ORPHA:306674
HP:0025270	Abnormal esophagus physiology	23400	ATP13A2	OMIM:606693
HP:0025270	Abnormal esophagus physiology	7156	TOP3A	OMIM:618098
HP:0025270	Abnormal esophagus physiology	1641	DCX	ORPHA:2148
HP:0025270	Abnormal esophagus physiology	60	ACTB	OMIM:607371
HP:0025270	Abnormal esophagus physiology	60	ACTB	ORPHA:79107
HP:0025270	Abnormal esophagus physiology	1600	DAB1	OMIM:615945
HP:0025270	Abnormal esophagus physiology	55636	CHD7	OMIM:214800
HP:0025270	Abnormal esophagus physiology	113278	SLC52A3	OMIM:211530
HP:0025270	Abnormal esophagus physiology	113278	SLC52A3	OMIM:211500
HP:0025270	Abnormal esophagus physiology	2395	FXN	ORPHA:95
HP:0025270	Abnormal esophagus physiology	23533	PIK3R5	ORPHA:64753
HP:0025270	Abnormal esophagus physiology	23064	SETX	ORPHA:64753
HP:0025270	Abnormal esophagus physiology	23064	SETX	OMIM:606002
HP:0025270	Abnormal esophagus physiology	3211	HOXB1	OMIM:614744
HP:0025270	Abnormal esophagus physiology	6507	SLC1A3	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	477	ATP1A2	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	146057	TTBK2	ORPHA:98767
HP:0025270	Abnormal esophagus physiology	3748	KCNC3	ORPHA:98768
HP:0025270	Abnormal esophagus physiology	9289	ADGRG1	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	5297	PI4KA	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	5297	PI4KA	OMIM:619708
HP:0025270	Abnormal esophagus physiology	27286	SRPX2	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	OMIM:264090
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	ORPHA:447896
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	OMIM:607694
HP:0025270	Abnormal esophagus physiology	80704	SLC19A3	OMIM:607483
HP:0025270	Abnormal esophagus physiology	80025	PANK2	OMIM:234200
HP:0025270	Abnormal esophagus physiology	80025	PANK2	OMIM:607236
HP:0025270	Abnormal esophagus physiology	80025	PANK2	ORPHA:216873
HP:0025270	Abnormal esophagus physiology	80025	PANK2	ORPHA:216866
HP:0025270	Abnormal esophagus physiology	92667	MGME1	ORPHA:352447
HP:0025270	Abnormal esophagus physiology	6558	SLC12A2	OMIM:619083
HP:0025270	Abnormal esophagus physiology	724066	ATXN8	ORPHA:98760
HP:0025270	Abnormal esophagus physiology	724066	ATXN8	OMIM:608768
HP:0025270	Abnormal esophagus physiology	492	ATP2B3	OMIM:302500
HP:0025270	Abnormal esophagus physiology	3251	HPRT1	OMIM:300322
HP:0025270	Abnormal esophagus physiology	3208	HPCA	OMIM:224500
HP:0025270	Abnormal esophagus physiology	10280	SIGMAR1	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	10558	SPTLC1	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	255928	SYT14	ORPHA:284271
HP:0025270	Abnormal esophagus physiology	255928	SYT14	OMIM:614229
HP:0025270	Abnormal esophagus physiology	9409	PEX16	OMIM:614877
HP:0025270	Abnormal esophagus physiology	9440	MED17	OMIM:613668
HP:0025270	Abnormal esophagus physiology	2263	FGFR2	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	2261	FGFR3	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	2255	FGF10	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	7443	VRK1	OMIM:607596
HP:0025270	Abnormal esophagus physiology	8106	PABPN1	OMIM:164300
HP:0025270	Abnormal esophagus physiology	8314	BAP1	ORPHA:50251
HP:0025270	Abnormal esophagus physiology	6310	ATXN1	ORPHA:98755
HP:0025270	Abnormal esophagus physiology	6310	ATXN1	OMIM:164400
HP:0025270	Abnormal esophagus physiology	10133	OPTN	OMIM:613435
HP:0025270	Abnormal esophagus physiology	50628	GEMIN4	OMIM:617913
HP:0025270	Abnormal esophagus physiology	91574	MTRFR	OMIM:613559
HP:0025270	Abnormal esophagus physiology	85021	REPS1	OMIM:617916
HP:0025270	Abnormal esophagus physiology	3752	KCND3	OMIM:607346
HP:0025270	Abnormal esophagus physiology	6509	SLC1A4	ORPHA:447997
HP:0025270	Abnormal esophagus physiology	6314	ATXN7	ORPHA:94147
HP:0025270	Abnormal esophagus physiology	6314	ATXN7	OMIM:164500
HP:0025270	Abnormal esophagus physiology	2776	GNAQ	ORPHA:3205
HP:0025270	Abnormal esophagus physiology	25793	FBXO7	ORPHA:171695
HP:0025270	Abnormal esophagus physiology	51067	YARS2	OMIM:613561
HP:0025270	Abnormal esophagus physiology	80199	FUZ	ORPHA:1136
HP:0025270	Abnormal esophagus physiology	7407	VARS1	OMIM:617802
HP:0025270	Abnormal esophagus physiology	284119	CAVIN1	OMIM:613327
HP:0025270	Abnormal esophagus physiology	10382	TUBB4A	OMIM:128101
HP:0025270	Abnormal esophagus physiology	10382	TUBB4A	ORPHA:98805
HP:0025270	Abnormal esophagus physiology	23534	TNPO3	OMIM:608423
HP:0025270	Abnormal esophagus physiology	1861	TOR1A	OMIM:128100
HP:0025270	Abnormal esophagus physiology	54704	PDP1	OMIM:608782
HP:0025270	Abnormal esophagus physiology	1288	COL4A6	ORPHA:1018
HP:0025270	Abnormal esophagus physiology	1287	COL4A5	ORPHA:1018
HP:0025270	Abnormal esophagus physiology	55906	ZC4H2	OMIM:301041
HP:0025270	Abnormal esophagus physiology	2982	GUCY1A1	OMIM:615750
HP:0025270	Abnormal esophagus physiology	9420	CYP7B1	ORPHA:100986
HP:0025270	Abnormal esophagus physiology	29926	GMPPA	OMIM:615510
HP:0025270	Abnormal esophagus physiology	23394	ADNP	OMIM:615873
HP:0025270	Abnormal esophagus physiology	57704	GBA2	ORPHA:352641
HP:0025270	Abnormal esophagus physiology	79848	CSPP1	OMIM:615636
HP:0025270	Abnormal esophagus physiology	6328	SCN3A	OMIM:617938
HP:0025270	Abnormal esophagus physiology	79587	CARS2	ORPHA:477774
HP:0025270	Abnormal esophagus physiology	10157	AASS	ORPHA:2203
HP:0025270	Abnormal esophagus physiology	2782	GNB1	OMIM:616973
HP:0025270	Abnormal esophagus physiology	79644	SRD5A3	OMIM:612379
HP:0025270	Abnormal esophagus physiology	3106	HLA-B	ORPHA:36426
HP:0025270	Abnormal esophagus physiology	10320	IKZF1	ORPHA:36426
HP:0025270	Abnormal esophagus physiology	27235	COQ2	OMIM:607426
HP:0025270	Abnormal esophagus physiology	25953	PNKD	OMIM:118800
HP:0025270	Abnormal esophagus physiology	8867	SYNJ1	OMIM:615530
HP:0025270	Abnormal esophagus physiology	2058	EPRS1	OMIM:617951
HP:0025270	Abnormal esophagus physiology	80746	TSEN2	OMIM:612389
HP:0025270	Abnormal esophagus physiology	23317	DNAJC13	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	1981	EIF4G1	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	55737	VPS35	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	120892	LRRK2	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	26058	GIGYF2	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	51008	ASCC1	OMIM:616867
HP:0025270	Abnormal esophagus physiology	2917	GRM7	OMIM:618922
HP:0025270	Abnormal esophagus physiology	9325	TRIP4	OMIM:616866
HP:0025270	Abnormal esophagus physiology	311	ANXA11	OMIM:617839
HP:0025270	Abnormal esophagus physiology	128989	TANGO2	ORPHA:480864
HP:0025270	Abnormal esophagus physiology	5582	PRKCG	OMIM:605361
HP:0025270	Abnormal esophagus physiology	9217	VAPB	OMIM:608627
HP:0025270	Abnormal esophagus physiology	3418	IDH2	ORPHA:163634
HP:0025270	Abnormal esophagus physiology	3417	IDH1	ORPHA:163634
HP:0025270	Abnormal esophagus physiology	59336	PRDM13	OMIM:619909
HP:0025270	Abnormal esophagus physiology	538	ATP7A	ORPHA:198
HP:0025270	Abnormal esophagus physiology	79784	MYH14	ORPHA:397744
HP:0025270	Abnormal esophagus physiology	1103	CHAT	OMIM:254210
HP:0025270	Abnormal esophagus physiology	1103	CHAT	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	84617	TUBB6	OMIM:617732
HP:0025270	Abnormal esophagus physiology	25915	NDUFAF3	ORPHA:70474
HP:0025270	Abnormal esophagus physiology	4714	NDUFB8	ORPHA:70474
HP:0025270	Abnormal esophagus physiology	4720	NDUFS2	ORPHA:70474
HP:0025270	Abnormal esophagus physiology	9997	SCO2	ORPHA:70474
HP:0025270	Abnormal esophagus physiology	6834	SURF1	ORPHA:70474
HP:0025270	Abnormal esophagus physiology	23556	PIGN	ORPHA:280633
HP:0025270	Abnormal esophagus physiology	2670	GFAP	ORPHA:363722
HP:0025270	Abnormal esophagus physiology	2670	GFAP	ORPHA:363717
HP:0025270	Abnormal esophagus physiology	122553	TRAPPC6B	OMIM:617862
HP:0025270	Abnormal esophagus physiology	28957	MRPS28	OMIM:618958
HP:0025270	Abnormal esophagus physiology	1305	COL13A1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6576	SLC25A1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	375790	AGRN	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6572	SLC18A3	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6616	SNAP25	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	8292	COLQ	ORPHA:98915
HP:0025270	Abnormal esophagus physiology	8292	COLQ	OMIM:603034
HP:0025270	Abnormal esophagus physiology	3913	LAMB2	ORPHA:98915
HP:0025270	Abnormal esophagus physiology	51	ACOX1	OMIM:264470
HP:0025270	Abnormal esophagus physiology	51	ACOX1	OMIM:618960
HP:0025270	Abnormal esophagus physiology	10577	NPC2	OMIM:607625
HP:0025270	Abnormal esophagus physiology	8913	CACNA1G	ORPHA:458803
HP:0025270	Abnormal esophagus physiology	8913	CACNA1G	OMIM:616795
HP:0025270	Abnormal esophagus physiology	6651	SON	ORPHA:500150
HP:0025270	Abnormal esophagus physiology	22943	DKK1	ORPHA:268882
HP:0025270	Abnormal esophagus physiology	8243	SMC1A	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7515	XRCC1	OMIM:617633
HP:0025270	Abnormal esophagus physiology	57731	SPTBN4	OMIM:617519
HP:0025270	Abnormal esophagus physiology	4359	MPZ	OMIM:607736
HP:0025270	Abnormal esophagus physiology	4204	MECP2	OMIM:300260
HP:0025270	Abnormal esophagus physiology	4747	NEFL	OMIM:607734
HP:0025270	Abnormal esophagus physiology	9373	PLAA	OMIM:617527
HP:0025270	Abnormal esophagus physiology	367	AR	OMIM:313200
HP:0025270	Abnormal esophagus physiology	6647	SOD1	OMIM:105400
HP:0025270	Abnormal esophagus physiology	5630	PRPH	OMIM:105400
HP:0025270	Abnormal esophagus physiology	1639	DCTN1	OMIM:105400
HP:0025270	Abnormal esophagus physiology	4744	NEFH	OMIM:105400
HP:0025270	Abnormal esophagus physiology	8367	H4C5	OMIM:619950
HP:0025270	Abnormal esophagus physiology	340533	NEXMIF	OMIM:300912
HP:0025270	Abnormal esophagus physiology	340533	NEXMIF	ORPHA:85277
HP:0025270	Abnormal esophagus physiology	57128	LYRM4	OMIM:615595
HP:0025270	Abnormal esophagus physiology	8518	ELP1	ORPHA:1764
HP:0025270	Abnormal esophagus physiology	8518	ELP1	OMIM:223900
HP:0025270	Abnormal esophagus physiology	8425	LTBP4	OMIM:613177
HP:0025270	Abnormal esophagus physiology	1161	ERCC8	ORPHA:90324
HP:0025270	Abnormal esophagus physiology	2074	ERCC6	ORPHA:90324
HP:0025270	Abnormal esophagus physiology	115908	CTHRC1	OMIM:614266
HP:0025270	Abnormal esophagus physiology	4481	MSR1	OMIM:614266
HP:0025270	Abnormal esophagus physiology	5238	PGM3	ORPHA:443811
HP:0025270	Abnormal esophagus physiology	4897	NRCAM	OMIM:619833
HP:0025270	Abnormal esophagus physiology	81857	MED25	OMIM:616449
HP:0025270	Abnormal esophagus physiology	9786	KIAA0586	ORPHA:397715
HP:0025270	Abnormal esophagus physiology	7259	TSPYL1	OMIM:608800
HP:0025270	Abnormal esophagus physiology	7259	TSPYL1	ORPHA:168593
HP:0025270	Abnormal esophagus physiology	116931	MED12L	OMIM:618872
HP:0025270	Abnormal esophagus physiology	161582	DNAAF4	OMIM:615482
HP:0025270	Abnormal esophagus physiology	3020	H3-3A	OMIM:619720
HP:0025270	Abnormal esophagus physiology	3021	H3-3B	OMIM:619721
HP:0025270	Abnormal esophagus physiology	80816	ASXL3	OMIM:615485
HP:0025270	Abnormal esophagus physiology	283489	CHAMP1	OMIM:616579
HP:0025270	Abnormal esophagus physiology	8239	USP9X	OMIM:300919
HP:0025270	Abnormal esophagus physiology	166378	AFG2A	OMIM:616577
HP:0025270	Abnormal esophagus physiology	84520	GON7	OMIM:619603
HP:0025270	Abnormal esophagus physiology	9723	SEMA3E	ORPHA:138
HP:0025270	Abnormal esophagus physiology	6660	SOX5	ORPHA:313892
HP:0025270	Abnormal esophagus physiology	535	ATP6V0A1	OMIM:619971
HP:0025270	Abnormal esophagus physiology	3190	HNRNPK	OMIM:616580
HP:0025270	Abnormal esophagus physiology	816	CAMK2B	OMIM:617799
HP:0025270	Abnormal esophagus physiology	9968	MED12	ORPHA:93932
HP:0025270	Abnormal esophagus physiology	1183	CLCN4	ORPHA:485350
HP:0025270	Abnormal esophagus physiology	5832	ALDH18A1	OMIM:601162
HP:0025270	Abnormal esophagus physiology	5832	ALDH18A1	ORPHA:447757
HP:0025270	Abnormal esophagus physiology	1277	COL1A1	ORPHA:287
HP:0025270	Abnormal esophagus physiology	1289	COL5A1	ORPHA:287
HP:0025270	Abnormal esophagus physiology	1290	COL5A2	ORPHA:287
HP:0025270	Abnormal esophagus physiology	7020	TFAP2A	OMIM:113620
HP:0025270	Abnormal esophagus physiology	10484	SEC23A	OMIM:607812
HP:0025270	Abnormal esophagus physiology	22872	SEC31A	OMIM:618651
HP:0025270	Abnormal esophagus physiology	3737	KCNA2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1759	DNM1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	8120	AP3B2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	523	ATP6V1A	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10991	SLC38A3	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10991	SLC38A3	OMIM:619881
HP:0025270	Abnormal esophagus physiology	51343	FZR1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	22906	TRAK1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2566	GABRG2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1917	EEF1A2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2561	GABRB2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	8831	SYNGAP1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	7532	YWHAG	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	79876	UBA5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	79876	UBA5	OMIM:617132
HP:0025270	Abnormal esophagus physiology	2558	GABRA5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	781	CACNA2D1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	116150	NUS1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10659	CELF2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	774	CACNA1B	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	774	CACNA1B	OMIM:618497
HP:0025270	Abnormal esophagus physiology	1213	CLTC	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1213	CLTC	OMIM:617854
HP:0025270	Abnormal esophagus physiology	51741	WWOX	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	23334	SZT2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	51412	ACTL6B	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	348980	HCN1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	6506	SLC1A2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2258	FGF13	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	3745	KCNB1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	284111	SLC13A5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	25977	NECAP1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	16	AARS1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	6334	SCN8A	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	22866	CNKSR2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	9568	GABBR2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2555	GABRA2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	55152	DALRD3	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	26999	CYFIP2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	4915	NTRK2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	25973	PARS2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	23097	CDK19	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	64801	ARV1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	64801	ARV1	OMIM:617020
HP:0025270	Abnormal esophagus physiology	79947	DHDDS	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2257	FGF12	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	5530	PPP3CA	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	9895	TECPR2	OMIM:615031
HP:0025270	Abnormal esophagus physiology	8493	PPM1D	OMIM:617450
HP:0025270	Abnormal esophagus physiology	23126	POGZ	OMIM:616364
HP:0025270	Abnormal esophagus physiology	23126	POGZ	ORPHA:468678
HP:0025270	Abnormal esophagus physiology	27125	AFF4	OMIM:616368
HP:0025270	Abnormal esophagus physiology	27125	AFF4	ORPHA:444077
HP:0025270	Abnormal esophagus physiology	51692	CPSF3	OMIM:619876
HP:0025270	Abnormal esophagus physiology	8021	NUP214	OMIM:618426
HP:0025270	Abnormal esophagus physiology	6134	RPL10	ORPHA:459070
HP:0025270	Abnormal esophagus physiology	6134	RPL10	OMIM:300998
HP:0025270	Abnormal esophagus physiology	6134	RPL10	ORPHA:435938
HP:0025270	Abnormal esophagus physiology	415	ARSL	ORPHA:79345
HP:0025270	Abnormal esophagus physiology	79796	ALG9	ORPHA:79328
HP:0025270	Abnormal esophagus physiology	4247	MGAT2	ORPHA:79329
HP:0025270	Abnormal esophagus physiology	6804	STX1A	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6804	STX1A	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2947	GSTM3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	7040	TGFB1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	2729	GCLC	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1084	CEACAM3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6556	SLC11A1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	51164	DCTN4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3783	KCNN4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	4282	MIF	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1909	EDNRA	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6550	SLC9A3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3162	HMOX1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	115019	SLC26A9	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3077	HFE	ORPHA:586
HP:0025270	Abnormal esophagus physiology	11254	SLC6A14	ORPHA:586
HP:0025270	Abnormal esophagus physiology	5265	SERPINA1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1080	CFTR	ORPHA:586
HP:0025270	Abnormal esophagus physiology	22802	CLCA4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	4680	CEACAM6	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3785	KCNQ2	ORPHA:1949
HP:0025270	Abnormal esophagus physiology	3786	KCNQ3	ORPHA:1949
HP:0025270	Abnormal esophagus physiology	11231	SEC63	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	5589	PRKCSH	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	4041	LRP5	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	2542	SLC37A4	OMIM:619525
HP:0025270	Abnormal esophagus physiology	9772	TMEM94	OMIM:618316
HP:0025270	Abnormal esophagus physiology	51341	ZBTB7A	OMIM:619769
HP:0025270	Abnormal esophagus physiology	9338	TCEAL1	OMIM:301094
HP:0025270	Abnormal esophagus physiology	6925	TCF4	OMIM:610954
HP:0025270	Abnormal esophagus physiology	6925	TCF4	ORPHA:2896
HP:0025270	Abnormal esophagus physiology	10743	RAI1	ORPHA:1713
HP:0025270	Abnormal esophagus physiology	10743	RAI1	ORPHA:819
HP:0025270	Abnormal esophagus physiology	23162	MAPK8IP3	OMIM:618443
HP:0025270	Abnormal esophagus physiology	54941	RNF125	OMIM:616260
HP:0025270	Abnormal esophagus physiology	197258	FCSK	OMIM:618324
HP:0025270	Abnormal esophagus physiology	79989	IFT56	OMIM:619534
HP:0025270	Abnormal esophagus physiology	85365	ALG2	OMIM:607906
HP:0025270	Abnormal esophagus physiology	259232	NALCN	OMIM:616266
HP:0025270	Abnormal esophagus physiology	259232	NALCN	OMIM:615419
HP:0025270	Abnormal esophagus physiology	25836	NIPBL	OMIM:122470
HP:0025270	Abnormal esophagus physiology	25836	NIPBL	ORPHA:199
HP:0025270	Abnormal esophagus physiology	79087	ALG12	ORPHA:79324
HP:0025270	Abnormal esophagus physiology	2200	FBN1	OMIM:184900
HP:0025270	Abnormal esophagus physiology	2200	FBN1	ORPHA:2462
HP:0025270	Abnormal esophagus physiology	3756	KCNH1	OMIM:611816
HP:0025270	Abnormal esophagus physiology	3756	KCNH1	OMIM:135500
HP:0025270	Abnormal esophagus physiology	641	BLM	ORPHA:125
HP:0025270	Abnormal esophagus physiology	25970	SH2B1	ORPHA:261197
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	OMIM:618332
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	ORPHA:353281
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	OMIM:180849
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	ORPHA:353277
HP:0025270	Abnormal esophagus physiology	8621	CDK13	OMIM:617360
HP:0025270	Abnormal esophagus physiology	58497	PRUNE1	ORPHA:544469
HP:0025270	Abnormal esophagus physiology	1642	DDB1	OMIM:619426
HP:0025270	Abnormal esophagus physiology	6857	SYT1	OMIM:618218
HP:0025270	Abnormal esophagus physiology	6857	SYT1	ORPHA:522077
HP:0025270	Abnormal esophagus physiology	2902	GRIN1	ORPHA:208447
HP:0025270	Abnormal esophagus physiology	2902	GRIN1	OMIM:619814
HP:0025270	Abnormal esophagus physiology	9361	LONP1	OMIM:600373
HP:0025270	Abnormal esophagus physiology	9361	LONP1	ORPHA:79243
HP:0025270	Abnormal esophagus physiology	6477	SIAH1	OMIM:619314
HP:0025270	Abnormal esophagus physiology	4000	LMNA	OMIM:619793
HP:0025270	Abnormal esophagus physiology	6885	MAP3K7	OMIM:617137
HP:0025270	Abnormal esophagus physiology	6885	MAP3K7	OMIM:157800
HP:0025270	Abnormal esophagus physiology	55869	HDAC8	OMIM:300882
HP:0025270	Abnormal esophagus physiology	55869	HDAC8	ORPHA:199
HP:0025270	Abnormal esophagus physiology	6299	SALL1	OMIM:107480
HP:0025270	Abnormal esophagus physiology	29998	BICRA	OMIM:619325
HP:0025270	Abnormal esophagus physiology	63895	PIEZO2	OMIM:617146
HP:0025270	Abnormal esophagus physiology	2033	EP300	ORPHA:353284
HP:0025270	Abnormal esophagus physiology	2033	EP300	OMIM:180849
HP:0025270	Abnormal esophagus physiology	443	ASPA	ORPHA:314911
HP:0025270	Abnormal esophagus physiology	4952	OCRL	ORPHA:534
HP:0025270	Abnormal esophagus physiology	9126	SMC3	OMIM:610759
HP:0025270	Abnormal esophagus physiology	9126	SMC3	ORPHA:199
HP:0025270	Abnormal esophagus physiology	55777	MBD5	OMIM:156200
HP:0025270	Abnormal esophagus physiology	112939	NACC1	OMIM:617393
HP:0025270	Abnormal esophagus physiology	4998	ORC1	OMIM:224690
HP:0025270	Abnormal esophagus physiology	54496	PRMT7	OMIM:617157
HP:0025270	Abnormal esophagus physiology	54551	MAGEL2	ORPHA:398069
HP:0025270	Abnormal esophagus physiology	54551	MAGEL2	OMIM:615547
HP:0025270	Abnormal esophagus physiology	5831	PYCR1	OMIM:612940
HP:0025270	Abnormal esophagus physiology	201163	FLCN	OMIM:610883
HP:0025270	Abnormal esophagus physiology	51079	NDUFA13	OMIM:618249
HP:0025270	Abnormal esophagus physiology	9719	ADAMTSL2	ORPHA:1901
HP:0025270	Abnormal esophagus physiology	9509	ADAMTS2	ORPHA:1901
HP:0025270	Abnormal esophagus physiology	1312	COMT	ORPHA:567
HP:0025270	Abnormal esophagus physiology	221037	JMJD1C	ORPHA:567
HP:0025270	Abnormal esophagus physiology	2812	GP1BB	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6239	RREB1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6899	TBX1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6899	TBX1	OMIM:188400
HP:0025270	Abnormal esophagus physiology	7290	HIRA	ORPHA:567
HP:0025270	Abnormal esophagus physiology	9632	SEC24C	ORPHA:567
HP:0025270	Abnormal esophagus physiology	7353	UFD1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	421	ARVCF	ORPHA:567
HP:0025270	Abnormal esophagus physiology	2778	GNAS	ORPHA:562
HP:0025270	Abnormal esophagus physiology	3265	HRAS	ORPHA:3071
HP:0025270	Abnormal esophagus physiology	7703	PCGF2	OMIM:618371
HP:0025270	Abnormal esophagus physiology	9496	TBX4	ORPHA:261279
HP:0025270	Abnormal esophagus physiology	2743	GLRB	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	2743	GLRB	OMIM:614619
HP:0025270	Abnormal esophagus physiology	2741	GLRA1	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	10243	GPHN	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	84896	ATAD1	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	9152	SLC6A5	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	9152	SLC6A5	OMIM:614618
HP:0025270	Abnormal esophagus physiology	372	ARCN1	OMIM:617164
HP:0025270	Abnormal esophagus physiology	8802	SUCLG1	ORPHA:17
HP:0025270	Abnormal esophagus physiology	3188	HNRNPH2	OMIM:300986
HP:0025270	Abnormal esophagus physiology	5000	ORC4	OMIM:613800
HP:0025270	Abnormal esophagus physiology	23594	ORC6	OMIM:613803
HP:0025270	Abnormal esophagus physiology	990	CDC6	OMIM:613805
HP:0025270	Abnormal esophagus physiology	2316	FLNA	ORPHA:75497
HP:0025270	Abnormal esophagus physiology	2316	FLNA	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	37	ACADVL	OMIM:201475
HP:0025270	Abnormal esophagus physiology	2290	FOXG1	ORPHA:261144
HP:0025270	Abnormal esophagus physiology	2290	FOXG1	OMIM:613454
HP:0025270	Abnormal esophagus physiology	57003	CCDC47	OMIM:618268
HP:0025270	Abnormal esophagus physiology	10681	GNB5	OMIM:617173
HP:0025270	Abnormal esophagus physiology	10681	GNB5	OMIM:617182
HP:0025270	Abnormal esophagus physiology	10681	GNB5	ORPHA:542306
HP:0025270	Abnormal esophagus physiology	64840	PORCN	ORPHA:2092
HP:0025270	Abnormal esophagus physiology	10847	SRCAP	OMIM:619595
HP:0025270	Abnormal esophagus physiology	10847	SRCAP	ORPHA:2044
HP:0025270	Abnormal esophagus physiology	51604	PIGT	ORPHA:369837
HP:0025270	Abnormal esophagus physiology	246329	STAC3	ORPHA:168572
HP:0025270	Abnormal esophagus physiology	526	ATP6V1B2	ORPHA:79500
HP:0025270	Abnormal esophagus physiology	57465	TBC1D24	ORPHA:79500
HP:0025270	Abnormal esophagus physiology	11198	SUPT16H	OMIM:619480
HP:0025270	Abnormal esophagus physiology	2887	GRB10	ORPHA:96182
HP:0025270	Abnormal esophagus physiology	374879	ZNF699	OMIM:619488
HP:0025270	Abnormal esophagus physiology	4841	NONO	OMIM:300967
HP:0025270	Abnormal esophagus physiology	4841	NONO	ORPHA:466791
HP:0025270	Abnormal esophagus physiology	5058	PAK1	OMIM:618158
HP:0025270	Abnormal esophagus physiology	57038	RARS2	OMIM:611523
HP:0025270	Abnormal esophagus physiology	8911	CACNA1I	OMIM:620114
HP:0025270	Abnormal esophagus physiology	10551	AGR2	OMIM:620233
HP:0025270	Abnormal esophagus physiology	4221	MEN1	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1027	CDKN1B	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1026	CDKN1A	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1030	CDKN2B	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1031	CDKN2C	ORPHA:652
HP:0025270	Abnormal esophagus physiology	80267	EDEM3	OMIM:619493
HP:0025270	Abnormal esophagus physiology	1650	DDOST	ORPHA:300536
HP:0025270	Abnormal esophagus physiology	1650	DDOST	OMIM:614507
HP:0025270	Abnormal esophagus physiology	6748	SSR4	ORPHA:370927
HP:0025270	Abnormal esophagus physiology	10079	ATP9A	OMIM:620242
HP:0025270	Abnormal esophagus physiology	28952	CCDC22	ORPHA:7
HP:0025270	Abnormal esophagus physiology	27161	AGO2	OMIM:619149
HP:0025270	Abnormal esophagus physiology	55294	FBXW7	OMIM:620012
HP:0025270	Abnormal esophagus physiology	8506	CNTNAP1	OMIM:618186
HP:0025270	Abnormal esophagus physiology	55503	TRPV6	OMIM:618188
HP:0025270	Abnormal esophagus physiology	5885	RAD21	OMIM:614701
HP:0025270	Abnormal esophagus physiology	5885	RAD21	ORPHA:199
HP:0025270	Abnormal esophagus physiology	7355	SLC35A2	ORPHA:356961
HP:0025270	Abnormal esophagus physiology	7355	SLC35A2	OMIM:300896
HP:0025270	Abnormal esophagus physiology	10274	STAG1	ORPHA:502434
HP:0025270	Abnormal esophagus physiology	10274	STAG1	OMIM:617635
HP:0025270	Abnormal esophagus physiology	64324	NSD1	ORPHA:821
HP:0025270	Abnormal esophagus physiology	64324	NSD1	OMIM:117550
HP:0025270	Abnormal esophagus physiology	29072	SETD2	ORPHA:821
HP:0025270	Abnormal esophagus physiology	10297	APC2	ORPHA:821
HP:0025270	Abnormal esophagus physiology	5447	POR	ORPHA:95699
HP:0025270	Abnormal esophagus physiology	4784	NFIX	ORPHA:447980
HP:0025270	Abnormal esophagus physiology	6531	SLC6A3	ORPHA:238455
HP:0025270	Abnormal esophagus physiology	6531	SLC6A3	OMIM:613135
HP:0025270	Abnormal esophagus physiology	80232	WDR26	ORPHA:513456
HP:0025270	Abnormal esophagus physiology	51506	UFC1	OMIM:618076
HP:0025270	Abnormal esophagus physiology	2314	FLII	ORPHA:819
HP:0025270	Abnormal esophagus physiology	23096	IQSEC2	ORPHA:819
HP:0025270	Abnormal esophagus physiology	10522	DEAF1	ORPHA:819
HP:0025270	Abnormal esophagus physiology	1717	DHCR7	ORPHA:818
HP:0025270	Abnormal esophagus physiology	1717	DHCR7	OMIM:270400
HP:0025270	Abnormal esophagus physiology	9915	ARNT2	OMIM:615926
HP:0025270	Abnormal esophagus physiology	10978	CLP1	OMIM:615803
HP:0025270	Abnormal esophagus physiology	5979	RET	ORPHA:99803
HP:0025270	Abnormal esophagus physiology	429	ASCL1	ORPHA:99803
HP:0025270	Abnormal esophagus physiology	4868	NPHS1	OMIM:256300
HP:0025270	Abnormal esophagus physiology	6595	SMARCA2	OMIM:619293
HP:0025270	Abnormal esophagus physiology	3899	AFF3	OMIM:619297
HP:0025270	Abnormal esophagus physiology	1136	CHRNA3	OMIM:191800
HP:0025270	Abnormal esophagus physiology	6440	SFTPC	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	729238	SFTPA2	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	79991	STN1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	653509	SFTPA1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	21	ABCA3	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	1832	DSP	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	727897	MUC5B	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	10144	FAM13A	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	23250	ATP11A	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	91039	DPP9	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	51750	RTEL1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7012	TERC	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	5073	PARN	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7015	TERT	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7015	TERT	OMIM:614742
HP:0025270	Abnormal esophagus physiology	546	ATRX	ORPHA:847
HP:0025270	Abnormal esophagus physiology	546	ATRX	OMIM:309580
HP:0025270	Abnormal esophagus physiology	546	ATRX	OMIM:301040
HP:0025270	Abnormal esophagus physiology	8546	AP3B1	OMIM:608233
HP:0025270	Abnormal esophagus physiology	132158	GLYCTK	OMIM:220120
HP:0025270	Abnormal esophagus physiology	79813	EHMT1	OMIM:610253
HP:0025270	Abnormal esophagus physiology	79813	EHMT1	ORPHA:261652
HP:0025270	Abnormal esophagus physiology	25942	SIN3A	OMIM:613406
HP:0025270	Abnormal esophagus physiology	53834	FGFRL1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	1487	CTBP1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	3954	LETM1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	7468	NSD2	OMIM:194190
HP:0025270	Abnormal esophagus physiology	10815	CPLX1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	5826	ABCD4	OMIM:614857
HP:0025270	Abnormal esophagus physiology	25923	ATL3	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	9517	SPTLC2	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	51062	ATL1	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	375	ARF1	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	4131	MAP1B	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	23327	NEDD4L	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	160418	TMTC3	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	10564	ARFGEF2	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	55780	ERMARD	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	7840	ALMS1	ORPHA:64
HP:0025270	Abnormal esophagus physiology	6792	CDKL5	OMIM:300672
HP:0025270	Abnormal esophagus physiology	56006	SMG9	OMIM:616920
HP:0025270	Abnormal esophagus physiology	7461	CLIP2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	84277	DNAJC30	ORPHA:904
HP:0025270	Abnormal esophagus physiology	8468	FKBP6	ORPHA:904
HP:0025270	Abnormal esophagus physiology	5982	RFC2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2969	GTF2I	ORPHA:904
HP:0025270	Abnormal esophagus physiology	3984	LIMK1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	9569	GTF2IRD1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	155382	VPS37D	ORPHA:904
HP:0025270	Abnormal esophagus physiology	155368	METTL27	ORPHA:904
HP:0025270	Abnormal esophagus physiology	114049	BUD23	ORPHA:904
HP:0025270	Abnormal esophagus physiology	7458	EIF4H	ORPHA:904
HP:0025270	Abnormal esophagus physiology	84163	GTF2IRD2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	9275	BCL7B	ORPHA:904
HP:0025270	Abnormal esophagus physiology	26608	TBL2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	653361	NCF1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	135886	TMEM270	ORPHA:904
HP:0025270	Abnormal esophagus physiology	51085	MLXIPL	ORPHA:904
HP:0025270	Abnormal esophagus physiology	51085	MLXIPL	OMIM:194050
HP:0025270	Abnormal esophagus physiology	9031	BAZ1B	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2006	ELN	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2006	ELN	OMIM:194050
HP:0025270	Abnormal esophagus physiology	10056	FARSB	OMIM:613658
HP:0025270	Abnormal esophagus physiology	81031	SLC2A10	ORPHA:3342
HP:0025270	Abnormal esophagus physiology	8085	KMT2D	OMIM:620186
HP:0025270	Abnormal esophagus physiology	23137	SMC5	OMIM:620185
HP:0025270	Abnormal esophagus physiology	51611	DPH5	OMIM:620070
HP:0025270	Abnormal esophagus physiology	58508	KMT2C	ORPHA:261652
HP:0025270	Abnormal esophagus physiology	5594	MAPK1	OMIM:619087
HP:0025270	Abnormal esophagus physiology	23261	CAMTA1	OMIM:614756
HP:0025270	Abnormal esophagus physiology	10472	ZBTB18	OMIM:612337
HP:0025270	Abnormal esophagus physiology	3187	HNRNPH1	OMIM:620083
HP:0025270	Abnormal esophagus physiology	2535	FZD2	OMIM:164745
HP:0025270	Abnormal esophagus physiology	171023	ASXL1	OMIM:605039
HP:0025270	Abnormal esophagus physiology	55023	PHIP	ORPHA:589905
HP:0025270	Abnormal esophagus physiology	54463	RETREG1	OMIM:201300
HP:0025270	Abnormal esophagus physiology	65125	WNK1	OMIM:201300
HP:0025270	Abnormal esophagus physiology	6335	SCN9A	OMIM:201300
HP:0025270	Abnormal esophagus physiology	547	KIF1A	OMIM:201300
HP:0025270	Abnormal esophagus physiology	667	DST	OMIM:614653
HP:0025270	Abnormal esophagus physiology	55690	PACS1	ORPHA:329224
HP:0025270	Abnormal esophagus physiology	51053	GMNN	OMIM:616835
HP:0025270	Abnormal esophagus physiology	196528	ARID2	OMIM:617808
HP:0025270	Abnormal esophagus physiology	91949	COG7	OMIM:608779
HP:0025270	Abnormal esophagus physiology	9780	PIEZO1	OMIM:616843
HP:0025270	Abnormal esophagus physiology	100151683	RNU4ATAC	OMIM:210710
HP:0025270	Abnormal esophagus physiology	1280	COL2A1	ORPHA:93316
HP:0025270	Abnormal esophagus physiology	85358	SHANK3	OMIM:606232
HP:0025270	Abnormal esophagus physiology	85358	SHANK3	ORPHA:48652
HP:0025270	Abnormal esophagus physiology	113235	SLC46A1	ORPHA:90045
HP:0025270	Abnormal esophagus physiology	113179	ADAT3	ORPHA:363528
HP:0025270	Abnormal esophagus physiology	11151	CORO1A	OMIM:615401
HP:0025270	Abnormal esophagus physiology	54931	TRMT10C	OMIM:616974
HP:0025270	Abnormal esophagus physiology	3097	HIVEP2	OMIM:616977
HP:0025270	Abnormal esophagus physiology	1644	DDC	OMIM:608643
HP:0025270	Abnormal esophagus physiology	10560	SLC19A2	OMIM:249270
HP:0025270	Abnormal esophagus physiology	6709	SPTAN1	OMIM:613477
HP:0025270	Abnormal esophagus physiology	9378	NRXN1	OMIM:614325
HP:0025270	Abnormal esophagus physiology	5160	PDHA1	ORPHA:79243
HP:0025270	Abnormal esophagus physiology	84693	MCEE	OMIM:251120
HP:0025270	Abnormal esophagus physiology	10943	MSL3	OMIM:301032
HP:0025270	Abnormal esophagus physiology	5723	PSPH	ORPHA:79350
HP:0025270	Abnormal esophagus physiology	26227	PHGDH	ORPHA:79351
HP:0025270	Abnormal esophagus physiology	23476	BRD4	ORPHA:199
HP:0025270	Abnormal esophagus physiology	7874	USP7	ORPHA:500055
HP:0025270	Abnormal esophagus physiology	10664	CTCF	ORPHA:363611
HP:0025270	Abnormal esophagus physiology	6628	SNRPB	OMIM:117650
HP:0025270	Abnormal esophagus physiology	29957	SLC25A24	OMIM:612289
HP:0025270	Abnormal esophagus physiology	80152	CENPT	OMIM:618702
HP:0025270	Abnormal esophagus physiology	3575	IL7R	OMIM:608971
HP:0025270	Abnormal esophagus physiology	5293	PIK3CD	ORPHA:221139
HP:0025270	Abnormal esophagus physiology	90417	KNSTRN	ORPHA:221139
HP:0025270	Abnormal esophagus physiology	8405	SPOP	OMIM:618829
HP:0025270	Abnormal esophagus physiology	83737	ITCH	OMIM:613385
HP:0025270	Abnormal esophagus physiology	57688	ZSWIM6	OMIM:617865
HP:0025270	Abnormal esophagus physiology	2890	GRIA1	OMIM:619927
HP:0025270	Abnormal esophagus physiology	7291	TWIST1	OMIM:617746
HP:0025270	Abnormal esophagus physiology	139285	AMER1	OMIM:300373
HP:0025270	Abnormal esophagus physiology	5430	POLR2A	OMIM:618603
HP:0025270	Abnormal esophagus physiology	29928	TIMM22	OMIM:618851
HP:0025270	Abnormal esophagus physiology	8803	SUCLA2	OMIM:612073
HP:0025270	Abnormal esophagus physiology	25871	NEPRO	OMIM:618853
HP:0025270	Abnormal esophagus physiology	84665	MYPN	ORPHA:171439
HP:0025270	Abnormal esophagus physiology	390594	KBTBD13	ORPHA:171439
HP:0025270	Abnormal esophagus physiology	2581	GALC	ORPHA:206443
HP:0025270	Abnormal esophagus physiology	10667	FARS2	ORPHA:466722
HP:0025270	Abnormal esophagus physiology	54809	SAMD9	OMIM:617053
HP:0025270	Abnormal esophagus physiology	55699	IARS2	OMIM:616007
HP:0025270	Abnormal esophagus physiology	55699	IARS2	ORPHA:436174
HP:0025270	Abnormal esophagus physiology	6774	STAT3	OMIM:615952
HP:0025270	Abnormal esophagus physiology	10625	IVNS1ABP	OMIM:618969
HP:0025270	Abnormal esophagus physiology	60684	TRAPPC11	OMIM:615356
HP:0025270	Abnormal esophagus physiology	60684	TRAPPC11	ORPHA:869
HP:0025270	Abnormal esophagus physiology	8086	AAAS	ORPHA:869
HP:0025270	Abnormal esophagus physiology	8086	AAAS	OMIM:231550
HP:0025270	Abnormal esophagus physiology	2717	GLA	ORPHA:324
HP:0025270	Abnormal esophagus physiology	4212	MEIS2	OMIM:600987
HP:0025270	Abnormal esophagus physiology	28982	FLVCR1	OMIM:609033
HP:0025270	Abnormal esophagus physiology	343641	TGM6	OMIM:613908
HP:0025270	Abnormal esophagus physiology	343641	TGM6	ORPHA:276193
HP:0025270	Abnormal esophagus physiology	5654	HTRA1	ORPHA:199354
HP:0025270	Abnormal esophagus physiology	5917	RARS1	OMIM:616140
HP:0025270	Abnormal esophagus physiology	5917	RARS1	ORPHA:438114
HP:0025270	Abnormal esophagus physiology	1593	CYP27A1	OMIM:213700
HP:0025270	Abnormal esophagus physiology	2583	B4GALNT1	ORPHA:101006
HP:0025270	Abnormal esophagus physiology	9896	FIG4	ORPHA:208441
HP:0025270	Abnormal esophagus physiology	23503	ZFYVE26	ORPHA:100996
HP:0025270	Abnormal esophagus physiology	3145	HMBS	ORPHA:79276
HP:0025270	Abnormal esophagus physiology	116461	TSEN15	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	79042	TSEN34	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	51091	SEPSECS	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	5376	PMP22	ORPHA:98916
HP:0025270	Abnormal esophagus physiology	55768	NGLY1	OMIM:615273
HP:0025270	Abnormal esophagus physiology	55768	NGLY1	ORPHA:404454
HP:0025270	Abnormal esophagus physiology	6872	TAF1	ORPHA:53351
HP:0025270	Abnormal esophagus physiology	10755	GIPC1	ORPHA:98897
HP:0025270	Abnormal esophagus physiology	8929	PHOX2B	OMIM:209880
HP:0025270	Abnormal esophagus physiology	6515	SLC2A3	ORPHA:399
HP:0025270	Abnormal esophagus physiology	7528	YY1	ORPHA:506358
HP:0025270	Abnormal esophagus physiology	5393	EXOSC9	OMIM:618065
HP:0025270	Abnormal esophagus physiology	112	ADCY6	OMIM:616287
HP:0025270	Abnormal esophagus physiology	7314	UBB	ORPHA:99772
HP:0025270	Abnormal esophagus physiology	57822	GRHL3	ORPHA:99772
HP:0025270	Abnormal esophagus physiology	222663	SCUBE3	OMIM:619184
HP:0025270	Abnormal esophagus physiology	1739	DLG1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	652	BMP4	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	999	CDH1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	9411	ARHGAP29	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	1748	DLX4	ORPHA:199306
HP:0025271	Esophageal spasms	5277	PIGA	ORPHA:447
HP:0025274	Ovarian dermoid cyst	4437	MSH3	ORPHA:480536
HP:0025274	Ovarian dermoid cyst	5573	PRKAR1A	ORPHA:1359
HP:0025274	Ovarian dermoid cyst	50940	PDE11A	ORPHA:1359
HP:0025276	Abnormality of skin adnexa physiology	1497	CTNS	OMIM:219800
HP:0025276	Abnormality of skin adnexa physiology	54084	TSPEAR	OMIM:618180
HP:0025276	Abnormality of skin adnexa physiology	60529	ALX4	OMIM:613451
HP:0025276	Abnormality of skin adnexa physiology	54101	RIPK4	ORPHA:1401
HP:0025276	Abnormality of skin adnexa physiology	85446	ZFHX2	OMIM:147430
HP:0025276	Abnormality of skin adnexa physiology	29926	GMPPA	OMIM:615510
HP:0025276	Abnormality of skin adnexa physiology	8573	CASK	OMIM:300749
HP:0025276	Abnormality of skin adnexa physiology	85358	SHANK3	OMIM:606232
HP:0025276	Abnormality of skin adnexa physiology	85358	SHANK3	ORPHA:48652
HP:0025276	Abnormality of skin adnexa physiology	2072	ERCC4	ORPHA:90321
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	ORPHA:363523
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	OMIM:614576
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	OMIM:615328
HP:0025276	Abnormality of skin adnexa physiology	113179	ADAT3	ORPHA:363528
HP:0025276	Abnormality of skin adnexa physiology	7051	TGM1	ORPHA:100976
HP:0025276	Abnormality of skin adnexa physiology	7051	TGM1	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	170302	ARX	ORPHA:452
HP:0025276	Abnormality of skin adnexa physiology	284252	KCTD1	ORPHA:2036
HP:0025276	Abnormality of skin adnexa physiology	284252	KCTD1	OMIM:181270
HP:0025276	Abnormality of skin adnexa physiology	6786	STIM1	OMIM:612783
HP:0025276	Abnormality of skin adnexa physiology	6663	SOX10	ORPHA:163746
HP:0025276	Abnormality of skin adnexa physiology	6663	SOX10	OMIM:609136
HP:0025276	Abnormality of skin adnexa physiology	412	STS	ORPHA:281090
HP:0025276	Abnormality of skin adnexa physiology	412	STS	OMIM:308100
HP:0025276	Abnormality of skin adnexa physiology	412	STS	ORPHA:461
HP:0025276	Abnormality of skin adnexa physiology	9325	TRIP4	OMIM:616866
HP:0025276	Abnormality of skin adnexa physiology	2717	GLA	ORPHA:324
HP:0025276	Abnormality of skin adnexa physiology	2717	GLA	OMIM:301500
HP:0025276	Abnormality of skin adnexa physiology	6768	ST14	OMIM:602400
HP:0025276	Abnormality of skin adnexa physiology	1301	COL11A1	ORPHA:560
HP:0025276	Abnormality of skin adnexa physiology	204219	CERS3	OMIM:615023
HP:0025276	Abnormality of skin adnexa physiology	204219	CERS3	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	1474	CST6	OMIM:618535
HP:0025276	Abnormality of skin adnexa physiology	374393	FAM111B	OMIM:615704
HP:0025276	Abnormality of skin adnexa physiology	10804	GJB6	ORPHA:477
HP:0025276	Abnormality of skin adnexa physiology	2706	GJB2	ORPHA:477
HP:0025276	Abnormality of skin adnexa physiology	2706	GJB2	OMIM:148210
HP:0025276	Abnormality of skin adnexa physiology	348938	NIPAL4	OMIM:612281
HP:0025276	Abnormality of skin adnexa physiology	348938	NIPAL4	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	126695	KDF1	OMIM:617337
HP:0025276	Abnormality of skin adnexa physiology	126695	KDF1	ORPHA:1810
HP:0025276	Abnormality of skin adnexa physiology	59335	PRDM12	OMIM:616488
HP:0025276	Abnormality of skin adnexa physiology	8626	TP63	OMIM:129400
HP:0025276	Abnormality of skin adnexa physiology	8626	TP63	OMIM:603543
HP:0025276	Abnormality of skin adnexa physiology	8626	TP63	ORPHA:69085
HP:0025276	Abnormality of skin adnexa physiology	8626	TP63	ORPHA:1896
HP:0025276	Abnormality of skin adnexa physiology	2312	FLG	ORPHA:461
HP:0025276	Abnormality of skin adnexa physiology	60401	EDA2R	ORPHA:181
HP:0025276	Abnormality of skin adnexa physiology	8567	MADD	OMIM:619004
HP:0025276	Abnormality of skin adnexa physiology	6785	ELOVL4	ORPHA:1955
HP:0025276	Abnormality of skin adnexa physiology	5422	POLA1	OMIM:301220
HP:0025276	Abnormality of skin adnexa physiology	284111	SLC13A5	ORPHA:1946
HP:0025276	Abnormality of skin adnexa physiology	79641	ROGDI	ORPHA:1946
HP:0025276	Abnormality of skin adnexa physiology	1476	CSTB	ORPHA:248
HP:0025276	Abnormality of skin adnexa physiology	26154	ABCA12	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	285848	PNPLA1	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	2260	FGFR1	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	128674	PROKR2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	6657	SOX2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	6658	SOX3	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	9915	ARNT2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	8820	HESX1	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	5015	OTX2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	2690	GHR	ORPHA:633
HP:0025276	Abnormality of skin adnexa physiology	7189	TRAF6	ORPHA:1810
HP:0025276	Abnormality of skin adnexa physiology	242	ALOX12B	OMIM:242100
HP:0025276	Abnormality of skin adnexa physiology	59344	ALOXE3	OMIM:242100
HP:0025276	Abnormality of skin adnexa physiology	59344	ALOXE3	OMIM:606545
HP:0025276	Abnormality of skin adnexa physiology	5317	PKP1	OMIM:604536
HP:0025276	Abnormality of skin adnexa physiology	2074	ERCC6	OMIM:133540
HP:0025276	Abnormality of skin adnexa physiology	1896	EDA	OMIM:305100
HP:0025276	Abnormality of skin adnexa physiology	9071	CLDN10	OMIM:617671
HP:0025276	Abnormality of skin adnexa physiology	55768	NGLY1	OMIM:615273
HP:0025276	Abnormality of skin adnexa physiology	816	CAMK2B	OMIM:617799
HP:0025276	Abnormality of skin adnexa physiology	2517	FUCA1	OMIM:230000
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:614940
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:614941
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:224900
HP:0025276	Abnormality of skin adnexa physiology	4803	NGF	ORPHA:64752
HP:0025276	Abnormality of skin adnexa physiology	4803	NGF	OMIM:608654
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	ORPHA:64752
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	ORPHA:642
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	OMIM:256800
HP:0025276	Abnormality of skin adnexa physiology	6261	RYR1	ORPHA:466650
HP:0025276	Abnormality of skin adnexa physiology	27235	COQ2	OMIM:146500
HP:0025276	Abnormality of skin adnexa physiology	84570	COL25A1	ORPHA:91411
HP:0025276	Abnormality of skin adnexa physiology	79776	ZFHX4	ORPHA:91411
HP:0025276	Abnormality of skin adnexa physiology	10913	EDAR	OMIM:224900
HP:0025276	Abnormality of skin adnexa physiology	5083	PAX9	OMIM:604625
HP:0025276	Abnormality of skin adnexa physiology	3861	KRT14	ORPHA:69087
HP:0025276	Abnormality of skin adnexa physiology	54463	RETREG1	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	65125	WNK1	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	6335	SCN9A	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	6335	SCN9A	OMIM:243000
HP:0025276	Abnormality of skin adnexa physiology	547	KIF1A	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	617	BCS1L	OMIM:262000
HP:0025276	Abnormality of skin adnexa physiology	9517	SPTLC2	OMIM:613640
HP:0025276	Abnormality of skin adnexa physiology	64065	PERP	OMIM:619209
HP:0025276	Abnormality of skin adnexa physiology	64065	PERP	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	4792	NFKBIA	OMIM:612132
HP:0025276	Abnormality of skin adnexa physiology	51360	MBTPS2	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	162514	TRPV3	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	1161	ERCC8	OMIM:216400
HP:0025276	Abnormality of skin adnexa physiology	80216	ALPK1	OMIM:614979
HP:0025276	Abnormality of skin adnexa physiology	4001	LMNB1	ORPHA:99027
HP:0025276	Abnormality of skin adnexa physiology	26191	PTPN22	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	3106	HLA-B	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	3106	HLA-B	ORPHA:3287
HP:0025276	Abnormality of skin adnexa physiology	3123	HLA-DRB1	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	8974	P4HA2	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	4352	MPL	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	7066	THPO	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	3717	JAK2	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	23769	FLRT1	ORPHA:320406
HP:0025276	Abnormality of skin adnexa physiology	64837	KLC2	ORPHA:320406
HP:0025276	Abnormality of skin adnexa physiology	64837	KLC2	OMIM:609541
HP:0025276	Abnormality of skin adnexa physiology	1291	COL6A1	OMIM:254090
HP:0025276	Abnormality of skin adnexa physiology	1292	COL6A2	OMIM:254090
HP:0025276	Abnormality of skin adnexa physiology	1293	COL6A3	OMIM:254090
HP:0025276	Abnormality of skin adnexa physiology	3094	HINT1	ORPHA:324442
HP:0025276	Abnormality of skin adnexa physiology	3094	HINT1	OMIM:137200
HP:0025276	Abnormality of skin adnexa physiology	23516	SLC39A14	OMIM:617013
HP:0025276	Abnormality of skin adnexa physiology	673	BRAF	OMIM:115150
HP:0025276	Abnormality of skin adnexa physiology	673	BRAF	OMIM:613706
HP:0025276	Abnormality of skin adnexa physiology	1736	DKC1	OMIM:305000
HP:0025276	Abnormality of skin adnexa physiology	1736	DKC1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	6571	SLC18A2	ORPHA:352649
HP:0025276	Abnormality of skin adnexa physiology	6571	SLC18A2	OMIM:618049
HP:0025276	Abnormality of skin adnexa physiology	3190	HNRNPK	ORPHA:453504
HP:0025276	Abnormality of skin adnexa physiology	3190	HNRNPK	ORPHA:352665
HP:0025276	Abnormality of skin adnexa physiology	1308	COL17A1	ORPHA:79406
HP:0025276	Abnormality of skin adnexa physiology	3481	IGF2	ORPHA:231140
HP:0025276	Abnormality of skin adnexa physiology	283120	H19	ORPHA:231140
HP:0025276	Abnormality of skin adnexa physiology	3728	JUP	ORPHA:34217
HP:0025276	Abnormality of skin adnexa physiology	3074	HEXB	OMIM:268800
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	ORPHA:217059
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	ORPHA:2796
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	OMIM:259100
HP:0025276	Abnormality of skin adnexa physiology	1644	DDC	OMIM:608643
HP:0025276	Abnormality of skin adnexa physiology	3736	KCNA1	ORPHA:37612
HP:0025276	Abnormality of skin adnexa physiology	3508	IGHMBP2	OMIM:604320
HP:0025276	Abnormality of skin adnexa physiology	1185	CLCN6	OMIM:619173
HP:0025276	Abnormality of skin adnexa physiology	9630	GNA14	ORPHA:1063
HP:0025276	Abnormality of skin adnexa physiology	8929	PHOX2B	ORPHA:2151
HP:0025276	Abnormality of skin adnexa physiology	8929	PHOX2B	OMIM:209880
HP:0025276	Abnormality of skin adnexa physiology	114548	NLRP3	ORPHA:47045
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	OMIM:614441
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	ORPHA:2796
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	OMIM:167100
HP:0025276	Abnormality of skin adnexa physiology	80326	WNT10A	OMIM:257980
HP:0025276	Abnormality of skin adnexa physiology	83550	GPR101	ORPHA:963
HP:0025276	Abnormality of skin adnexa physiology	83550	GPR101	OMIM:300942
HP:0025276	Abnormality of skin adnexa physiology	9049	AIP	ORPHA:963
HP:0025276	Abnormality of skin adnexa physiology	9049	AIP	ORPHA:99725
HP:0025276	Abnormality of skin adnexa physiology	3852	KRT5	ORPHA:79400
HP:0025276	Abnormality of skin adnexa physiology	5621	PRNP	OMIM:600072
HP:0025276	Abnormality of skin adnexa physiology	1828	DSG1	OMIM:148700
HP:0025276	Abnormality of skin adnexa physiology	84133	ZNRF3	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7157	TP53	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	5573	PRKAR1A	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	1499	CTNNB1	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	1029	CDKN2A	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7015	TERT	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7015	TERT	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	6898	TAT	ORPHA:28378
HP:0025276	Abnormality of skin adnexa physiology	8802	SUCLG1	OMIM:245400
HP:0025276	Abnormality of skin adnexa physiology	8802	SUCLG1	ORPHA:17
HP:0025276	Abnormality of skin adnexa physiology	3172	HNF4A	ORPHA:263455
HP:0025276	Abnormality of skin adnexa physiology	1508	CTSB	ORPHA:50943
HP:0025276	Abnormality of skin adnexa physiology	3977	LIFR	OMIM:601559
HP:0025276	Abnormality of skin adnexa physiology	3977	LIFR	ORPHA:3206
HP:0025276	Abnormality of skin adnexa physiology	64072	CDH23	ORPHA:91347
HP:0025276	Abnormality of skin adnexa physiology	388962	BOLA3	OMIM:614299
HP:0025276	Abnormality of skin adnexa physiology	11280	SCN11A	OMIM:615548
HP:0025276	Abnormality of skin adnexa physiology	200734	SPRED2	OMIM:619745
HP:0025276	Abnormality of skin adnexa physiology	9244	CRLF1	OMIM:272430
HP:0025276	Abnormality of skin adnexa physiology	9244	CRLF1	ORPHA:1545
HP:0025276	Abnormality of skin adnexa physiology	330	BIRC3	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	10892	MALT1	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	27086	FOXP1	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	3492	IGH	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	8915	BCL10	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	1001	CDH3	OMIM:225280
HP:0025276	Abnormality of skin adnexa physiology	5604	MAP2K1	OMIM:615279
HP:0025276	Abnormality of skin adnexa physiology	8710	SERPINB7	ORPHA:140966
HP:0025276	Abnormality of skin adnexa physiology	773	CACNA1A	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	6507	SLC1A3	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	477	ATP1A2	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	478	ATP1A3	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	4221	MEN1	ORPHA:97279
HP:0025276	Abnormality of skin adnexa physiology	4221	MEN1	ORPHA:99725
HP:0025276	Abnormality of skin adnexa physiology	7528	YY1	ORPHA:97279
HP:0025276	Abnormality of skin adnexa physiology	100134444	KCNJ18	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	2556	GABRA3	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	779	CACNA1S	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	6697	SPR	ORPHA:70594
HP:0025276	Abnormality of skin adnexa physiology	8517	IKBKG	ORPHA:464
HP:0025276	Abnormality of skin adnexa physiology	2887	GRB10	ORPHA:96182
HP:0025276	Abnormality of skin adnexa physiology	5605	MAP2K2	OMIM:615280
HP:0025276	Abnormality of skin adnexa physiology	57152	SLURP1	ORPHA:87503
HP:0025276	Abnormality of skin adnexa physiology	57152	SLURP1	OMIM:248300
HP:0025276	Abnormality of skin adnexa physiology	9373	PLAA	ORPHA:521426
HP:0025276	Abnormality of skin adnexa physiology	10161	LPAR6	OMIM:278150
HP:0025276	Abnormality of skin adnexa physiology	8450	CUL4B	ORPHA:85293
HP:0025276	Abnormality of skin adnexa physiology	55164	SHQ1	OMIM:619922
HP:0025276	Abnormality of skin adnexa physiology	3853	KRT6A	OMIM:615726
HP:0025276	Abnormality of skin adnexa physiology	595	CCND1	ORPHA:892
HP:0025276	Abnormality of skin adnexa physiology	5818	NECTIN1	OMIM:225060
HP:0025276	Abnormality of skin adnexa physiology	3868	KRT16	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3857	KRT9	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3848	KRT1	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3593	IL12B	ORPHA:3287
HP:0025276	Abnormality of skin adnexa physiology	6945	MLX	ORPHA:3287
HP:0025276	Abnormality of skin adnexa physiology	3265	HRAS	ORPHA:2874
HP:0025276	Abnormality of skin adnexa physiology	8803	SUCLA2	OMIM:612073
HP:0025276	Abnormality of skin adnexa physiology	667	DST	OMIM:614653
HP:0025276	Abnormality of skin adnexa physiology	80169	CTC1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	26277	TINF2	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55651	NHP2	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	79650	USB1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55135	WRAP53	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	51750	RTEL1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	4869	NPM1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	7012	TERC	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55505	NOP10	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	5073	PARN	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	7298	TYMS	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	3145	HMBS	ORPHA:79276
HP:0025276	Abnormality of skin adnexa physiology	1188	CLCNKB	ORPHA:358
HP:0025276	Abnormality of skin adnexa physiology	6559	SLC12A3	ORPHA:358
HP:0025276	Abnormality of skin adnexa physiology	2263	FGFR2	OMIM:101200
HP:0025276	Abnormality of skin adnexa physiology	3767	KCNJ11	ORPHA:276580
HP:0025276	Abnormality of skin adnexa physiology	8518	ELP1	OMIM:223900
HP:0025276	Abnormality of skin adnexa physiology	7428	VHL	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	7428	VHL	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	1743	DLST	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	4191	MDH2	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	5979	RET	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	5979	RET	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	6389	SDHA	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	23095	KIF1B	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	2271	FH	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	8402	SLC25A11	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	54949	SDHAF2	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	55654	TMEM127	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	4763	NF1	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	6391	SDHC	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	6392	SDHD	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	6392	SDHD	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	6390	SDHB	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	6390	SDHB	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	4149	MAX	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	7351	UCP2	ORPHA:276556
HP:0025276	Abnormality of skin adnexa physiology	1788	DNMT3A	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	2034	EPAS1	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	6927	HNF1A	ORPHA:324575
HP:0025276	Abnormality of skin adnexa physiology	6833	ABCC8	ORPHA:276575
HP:0025276	Abnormality of skin adnexa physiology	229	ALDOB	ORPHA:469
HP:0025276	Abnormality of skin adnexa physiology	3914	LAMB3	OMIM:226650
HP:0025276	Abnormality of skin adnexa physiology	1080	CFTR	ORPHA:498359
HP:0025276	Abnormality of skin adnexa physiology	3872	KRT17	OMIM:167210
HP:0025276	Abnormality of skin adnexa physiology	3872	KRT17	ORPHA:2309
HP:0025276	Abnormality of skin adnexa physiology	284654	RSPO1	OMIM:610644
HP:0025276	Abnormality of skin adnexa physiology	3854	KRT6B	ORPHA:2309
HP:0025276	Abnormality of skin adnexa physiology	3709	ITPR2	OMIM:106190
HP:0025276	Abnormality of skin adnexa physiology	1041	CDSN	ORPHA:90368
HP:0025276	Abnormality of skin adnexa physiology	121391	KRT74	ORPHA:90368
HP:0025276	Abnormality of skin adnexa physiology	10558	SPTLC1	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	25923	ATL3	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	51062	ATL1	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	23529	CLCF1	OMIM:610313
HP:0025276	Abnormality of skin adnexa physiology	55975	KLHL7	OMIM:617055
HP:0025276	Abnormality of skin adnexa physiology	56916	SMARCAD1	OMIM:129200
HP:0025278	Cold-induced sweating	23529	CLCF1	OMIM:610313
HP:0025278	Cold-induced sweating	55975	KLHL7	OMIM:617055
HP:0025285	Aggravated by	2022	ENG	OMIM:187300
HP:0025289	Cervical lymphadenopathy	55315	SLC29A3	OMIM:602782
HP:0025289	Cervical lymphadenopathy	3162	HMOX1	OMIM:614034
HP:0025289	Cervical lymphadenopathy	50619	DEF6	OMIM:619573
HP:0025289	Cervical lymphadenopathy	10125	RASGRP1	OMIM:618534
HP:0025289	Cervical lymphadenopathy	7132	TNFRSF1A	OMIM:142680
HP:0025289	Cervical lymphadenopathy	5880	RAC2	OMIM:618987
HP:0025289	Cervical lymphadenopathy	10095	ARPC1B	OMIM:617718
HP:0025289	Cervical lymphadenopathy	1991	ELANE	ORPHA:2686
HP:0012600	Abnormal urine chloride concentration	6557	SLC12A1	OMIM:601678
HP:0012600	Abnormal urine chloride concentration	1187	CLCNKA	OMIM:613090
HP:0012600	Abnormal urine chloride concentration	1188	CLCNKB	OMIM:613090
HP:0012600	Abnormal urine chloride concentration	1188	CLCNKB	OMIM:607364
HP:0012600	Abnormal urine chloride concentration	7809	BSND	OMIM:602522
HP:0012600	Abnormal urine chloride concentration	3758	KCNJ1	OMIM:241200
HP:0012603	Abnormal urine sodium concentration	1583	CYP11A1	ORPHA:289548
HP:0012603	Abnormal urine sodium concentration	1583	CYP11A1	ORPHA:168558
HP:0012603	Abnormal urine sodium concentration	56246	MRAP	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	6770	STAR	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	4158	MC2R	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	23530	NNT	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	10587	TXNRD2	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	1187	CLCNKA	OMIM:613090
HP:0012603	Abnormal urine sodium concentration	1188	CLCNKB	OMIM:613090
HP:0012603	Abnormal urine sodium concentration	7809	BSND	OMIM:602522
HP:0012603	Abnormal urine sodium concentration	554	AVPR2	OMIM:300539
HP:0012603	Abnormal urine sodium concentration	3291	HSD11B2	ORPHA:320
HP:0012603	Abnormal urine sodium concentration	3766	KCNJ10	ORPHA:199343
HP:0012603	Abnormal urine sodium concentration	3766	KCNJ10	OMIM:612780
HP:0012603	Abnormal urine sodium concentration	1585	CYP11B2	ORPHA:556030
HP:0012603	Abnormal urine sodium concentration	1962	EHHADH	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	2628	GATM	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	137682	NDUFAF6	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	6569	SLC34A1	ORPHA:3337
HP:0012606	Renal sodium wasting	3291	HSD11B2	ORPHA:320
HP:0012606	Renal sodium wasting	3766	KCNJ10	ORPHA:199343
HP:0012606	Renal sodium wasting	3766	KCNJ10	OMIM:612780
HP:0012606	Renal sodium wasting	1585	CYP11B2	ORPHA:556030
HP:0012606	Renal sodium wasting	1962	EHHADH	ORPHA:3337
HP:0012606	Renal sodium wasting	2628	GATM	ORPHA:3337
HP:0012606	Renal sodium wasting	137682	NDUFAF6	ORPHA:3337
HP:0012606	Renal sodium wasting	6569	SLC34A1	ORPHA:3337
HP:0012607	Abnormal urine magnesium concentration	149461	CLDN19	OMIM:248190
HP:0012607	Abnormal urine magnesium concentration	3766	KCNJ10	ORPHA:199343
HP:0012607	Abnormal urine magnesium concentration	476	ATP1A1	OMIM:618314
HP:0012607	Abnormal urine magnesium concentration	476	ATP1A1	ORPHA:564178
HP:0012607	Abnormal urine magnesium concentration	10686	CLDN16	OMIM:248250
HP:0012607	Abnormal urine magnesium concentration	6559	SLC12A3	OMIM:263800
HP:0012607	Abnormal urine magnesium concentration	486	FXYD2	OMIM:154020
HP:0012607	Abnormal urine magnesium concentration	55764	IFT122	OMIM:218330
HP:0012607	Abnormal urine magnesium concentration	2767	GNA11	ORPHA:428
HP:0012607	Abnormal urine magnesium concentration	846	CASR	ORPHA:428
HP:0012608	Hypermagnesiuria	149461	CLDN19	OMIM:248190
HP:0012608	Hypermagnesiuria	10686	CLDN16	OMIM:248250
HP:0012608	Hypermagnesiuria	2767	GNA11	ORPHA:428
HP:0012608	Hypermagnesiuria	846	CASR	ORPHA:428
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	ORPHA:411543
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	ORPHA:411536
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	OMIM:300661
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	OMIM:300322
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	ORPHA:79233
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	OMIM:300323
HP:0012610	Abnormality of urinary uric acid level	116085	SLC22A12	OMIM:220150
HP:0012610	Abnormality of urinary uric acid level	116085	SLC22A12	ORPHA:94088
HP:0012610	Abnormality of urinary uric acid level	56606	SLC2A9	ORPHA:94088
HP:0012610	Abnormality of urinary uric acid level	229	ALDOB	OMIM:229600
HP:0012610	Abnormality of urinary uric acid level	1962	EHHADH	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	2628	GATM	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	137682	NDUFAF6	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	6569	SLC34A1	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	4860	PNP	ORPHA:760
HP:0012610	Abnormality of urinary uric acid level	4337	MOCS1	OMIM:252150
HP:0012610	Abnormality of urinary uric acid level	4338	MOCS2	OMIM:252160
HP:0003149	Hyperuricosuria	5631	PRPS1	ORPHA:411543
HP:0003149	Hyperuricosuria	5631	PRPS1	ORPHA:411536
HP:0003149	Hyperuricosuria	5631	PRPS1	OMIM:300661
HP:0003149	Hyperuricosuria	3251	HPRT1	OMIM:300322
HP:0003149	Hyperuricosuria	3251	HPRT1	ORPHA:79233
HP:0003149	Hyperuricosuria	3251	HPRT1	OMIM:300323
HP:0003149	Hyperuricosuria	116085	SLC22A12	OMIM:220150
HP:0003149	Hyperuricosuria	116085	SLC22A12	ORPHA:94088
HP:0003149	Hyperuricosuria	56606	SLC2A9	ORPHA:94088
HP:0003149	Hyperuricosuria	229	ALDOB	OMIM:229600
HP:0003149	Hyperuricosuria	1962	EHHADH	ORPHA:3337
HP:0003149	Hyperuricosuria	2628	GATM	ORPHA:3337
HP:0003149	Hyperuricosuria	137682	NDUFAF6	ORPHA:3337
HP:0003149	Hyperuricosuria	6569	SLC34A1	ORPHA:3337
HP:0012612	Abnormal urinary sulfate concentration	4337	MOCS1	OMIM:252150
HP:0012612	Abnormal urinary sulfate concentration	6821	SUOX	OMIM:272300
HP:0012612	Abnormal urinary sulfate concentration	10861	SLC26A1	OMIM:620372
HP:0012613	Increased urinary sulfate	10861	SLC26A1	OMIM:620372
HP:0012614	Abnormal urine cytology	26191	PTPN22	ORPHA:397
HP:0012614	Abnormal urine cytology	26191	PTPN22	ORPHA:900
HP:0012614	Abnormal urine cytology	3106	HLA-B	ORPHA:397
HP:0012614	Abnormal urine cytology	3123	HLA-DRB1	ORPHA:397
HP:0012614	Abnormal urine cytology	8974	P4HA2	ORPHA:397
HP:0012614	Abnormal urine cytology	1497	CTNS	OMIM:219800
HP:0012614	Abnormal urine cytology	4010	LMX1B	ORPHA:2614
HP:0012614	Abnormal urine cytology	4010	LMX1B	OMIM:161200
HP:0012614	Abnormal urine cytology	55746	NUP133	OMIM:618349
HP:0012614	Abnormal urine cytology	4179	CD46	OMIM:612922
HP:0012614	Abnormal urine cytology	6775	STAT4	ORPHA:93552
HP:0012614	Abnormal urine cytology	6696	SPP1	ORPHA:93552
HP:0012614	Abnormal urine cytology	3654	IRAK1	ORPHA:93552
HP:0012614	Abnormal urine cytology	629	CFB	OMIM:612924
HP:0012614	Abnormal urine cytology	56606	SLC2A9	ORPHA:94088
HP:0012614	Abnormal urine cytology	116085	SLC22A12	ORPHA:94088
HP:0012614	Abnormal urine cytology	3426	CFI	OMIM:612923
HP:0012614	Abnormal urine cytology	1776	DNASE1L3	ORPHA:36412
HP:0012614	Abnormal urine cytology	7056	THBD	OMIM:612926
HP:0012614	Abnormal urine cytology	718	C3	OMIM:612925
HP:0012614	Abnormal urine cytology	3655	ITGA6	ORPHA:79403
HP:0012614	Abnormal urine cytology	3691	ITGB4	ORPHA:79403
HP:0012614	Abnormal urine cytology	6720	SREBF1	OMIM:158310
HP:0012614	Abnormal urine cytology	23607	CD2AP	OMIM:607832
HP:0012614	Abnormal urine cytology	9380	GRHPR	OMIM:260000
HP:0012614	Abnormal urine cytology	23395	LARS2	OMIM:617021
HP:0012614	Abnormal urine cytology	3162	HMOX1	OMIM:614034
HP:0012614	Abnormal urine cytology	25959	KANK2	OMIM:617783
HP:0012614	Abnormal urine cytology	10413	YAP1	ORPHA:1473
HP:0012614	Abnormal urine cytology	10413	YAP1	OMIM:120433
HP:0012614	Abnormal urine cytology	10686	CLDN16	OMIM:248250
HP:0012614	Abnormal urine cytology	7248	TSC1	ORPHA:538
HP:0012614	Abnormal urine cytology	7249	TSC2	ORPHA:538
HP:0012614	Abnormal urine cytology	1286	COL4A4	OMIM:141200
HP:0012614	Abnormal urine cytology	1286	COL4A4	OMIM:203780
HP:0012614	Abnormal urine cytology	6523	SLC5A1	ORPHA:35710
HP:0012614	Abnormal urine cytology	4952	OCRL	ORPHA:534
HP:0012614	Abnormal urine cytology	5978	REST	ORPHA:654
HP:0012614	Abnormal urine cytology	129563	DIS3L2	ORPHA:654
HP:0012614	Abnormal urine cytology	675	BRCA2	ORPHA:654
HP:0012614	Abnormal urine cytology	9319	TRIP13	ORPHA:654
HP:0012614	Abnormal urine cytology	7490	WT1	ORPHA:654
HP:0012614	Abnormal urine cytology	10155	TRIM28	ORPHA:654
HP:0012614	Abnormal urine cytology	11281	POU6F2	ORPHA:654
HP:0012614	Abnormal urine cytology	2719	GPC3	ORPHA:654
HP:0012614	Abnormal urine cytology	283120	H19	ORPHA:654
HP:0012614	Abnormal urine cytology	51726	DNAJB11	ORPHA:730
HP:0012614	Abnormal urine cytology	23193	GANAB	ORPHA:730
HP:0012614	Abnormal urine cytology	5310	PKD1	ORPHA:730
HP:0012614	Abnormal urine cytology	5311	PKD2	ORPHA:730
HP:0012614	Abnormal urine cytology	29880	ALG5	ORPHA:730
HP:0012614	Abnormal urine cytology	9742	IFT140	ORPHA:730
HP:0012614	Abnormal urine cytology	79796	ALG9	ORPHA:730
HP:0012614	Abnormal urine cytology	80114	BICC1	ORPHA:730
HP:0012614	Abnormal urine cytology	3043	HBB	OMIM:603903
HP:0012614	Abnormal urine cytology	1801	DPH1	OMIM:616901
HP:0012614	Abnormal urine cytology	55109	AGGF1	ORPHA:90308
HP:0012614	Abnormal urine cytology	2159	F10	ORPHA:328
HP:0012614	Abnormal urine cytology	7428	VHL	ORPHA:276621
HP:0012614	Abnormal urine cytology	7428	VHL	ORPHA:29072
HP:0012614	Abnormal urine cytology	5979	RET	ORPHA:276621
HP:0012614	Abnormal urine cytology	5979	RET	ORPHA:29072
HP:0012614	Abnormal urine cytology	1788	DNMT3A	ORPHA:276621
HP:0012614	Abnormal urine cytology	2034	EPAS1	ORPHA:276621
HP:0012614	Abnormal urine cytology	6392	SDHD	ORPHA:276621
HP:0012614	Abnormal urine cytology	6392	SDHD	ORPHA:29072
HP:0012614	Abnormal urine cytology	6390	SDHB	ORPHA:276621
HP:0012614	Abnormal urine cytology	6390	SDHB	ORPHA:29072
HP:0012614	Abnormal urine cytology	2717	GLA	ORPHA:324
HP:0012614	Abnormal urine cytology	2153	F5	ORPHA:326
HP:0012614	Abnormal urine cytology	84818	IL17RC	ORPHA:1334
HP:0012614	Abnormal urine cytology	64581	CLEC7A	ORPHA:1334
HP:0012614	Abnormal urine cytology	23765	IL17RA	ORPHA:1334
HP:0012614	Abnormal urine cytology	10758	TRAF3IP2	ORPHA:1334
HP:0012614	Abnormal urine cytology	112744	IL17F	ORPHA:1334
HP:0012614	Abnormal urine cytology	27031	NPHP3	OMIM:604387
HP:0012614	Abnormal urine cytology	54	ACP5	ORPHA:1855
HP:0012614	Abnormal urine cytology	4069	LYZ	OMIM:105200
HP:0012614	Abnormal urine cytology	2243	FGA	OMIM:105200
HP:0012614	Abnormal urine cytology	335	APOA1	OMIM:105200
HP:0012614	Abnormal urine cytology	567	B2M	OMIM:105200
HP:0012614	Abnormal urine cytology	11277	TREX1	OMIM:192315
HP:0012614	Abnormal urine cytology	6711	SPTBN1	OMIM:619475
HP:0012614	Abnormal urine cytology	1285	COL4A3	OMIM:203780
HP:0012614	Abnormal urine cytology	1285	COL4A3	OMIM:104200
HP:0012614	Abnormal urine cytology	189	AGXT	OMIM:259900
HP:0012614	Abnormal urine cytology	189	AGXT	ORPHA:93598
HP:0012614	Abnormal urine cytology	1743	DLST	ORPHA:29072
HP:0012614	Abnormal urine cytology	4191	MDH2	ORPHA:29072
HP:0012614	Abnormal urine cytology	6389	SDHA	ORPHA:29072
HP:0012614	Abnormal urine cytology	23095	KIF1B	ORPHA:29072
HP:0012614	Abnormal urine cytology	2271	FH	ORPHA:29072
HP:0012614	Abnormal urine cytology	8402	SLC25A11	ORPHA:29072
HP:0012614	Abnormal urine cytology	54949	SDHAF2	ORPHA:29072
HP:0012614	Abnormal urine cytology	55654	TMEM127	ORPHA:29072
HP:0012614	Abnormal urine cytology	4763	NF1	ORPHA:29072
HP:0012614	Abnormal urine cytology	6391	SDHC	ORPHA:29072
HP:0012614	Abnormal urine cytology	4149	MAX	ORPHA:29072
HP:0012614	Abnormal urine cytology	1282	COL4A1	ORPHA:73229
HP:0012614	Abnormal urine cytology	1282	COL4A1	OMIM:611773
HP:0012614	Abnormal urine cytology	1493	CTLA4	ORPHA:900
HP:0012614	Abnormal urine cytology	3115	HLA-DPB1	ORPHA:900
HP:0012614	Abnormal urine cytology	5657	PRTN3	ORPHA:900
HP:0012614	Abnormal urine cytology	3113	HLA-DPA1	ORPHA:900
HP:0012614	Abnormal urine cytology	5345	SERPINF2	ORPHA:79
HP:0012614	Abnormal urine cytology	3075	CFH	OMIM:609814
HP:0012614	Abnormal urine cytology	3998	LMAN1	ORPHA:35909
HP:0012614	Abnormal urine cytology	90411	MCFD2	ORPHA:35909
HP:0012614	Abnormal urine cytology	9688	NUP93	OMIM:616892
HP:0012614	Abnormal urine cytology	6786	STIM1	OMIM:185070
HP:0012614	Abnormal urine cytology	2625	GATA3	OMIM:146255
HP:0012614	Abnormal urine cytology	10253	SPRY2	OMIM:616818
HP:0012614	Abnormal urine cytology	3673	ITGA2	ORPHA:853
HP:0012614	Abnormal urine cytology	135228	CD109	ORPHA:853
HP:0012614	Abnormal urine cytology	2658	GDF2	ORPHA:774
HP:0012614	Abnormal urine cytology	94	ACVRL1	ORPHA:774
HP:0012614	Abnormal urine cytology	4089	SMAD4	ORPHA:774
HP:0012614	Abnormal urine cytology	2022	ENG	ORPHA:774
HP:0012614	Abnormal urine cytology	149461	CLDN19	ORPHA:2196
HP:0012614	Abnormal urine cytology	5213	PFKM	OMIM:232800
HP:0012614	Abnormal urine cytology	6928	HNF1B	ORPHA:1309
HP:0012614	Abnormal urine cytology	4853	NOTCH2	OMIM:610205
HP:0012614	Abnormal urine cytology	5076	PAX2	OMIM:120330
HP:0012614	Abnormal urine cytology	2542	SLC37A4	OMIM:232240
HP:0012614	Abnormal urine cytology	6774	STAT3	ORPHA:520
HP:0012614	Abnormal urine cytology	5371	PML	ORPHA:520
HP:0012614	Abnormal urine cytology	5914	RARA	ORPHA:520
HP:0012614	Abnormal urine cytology	359948	IRF2BP2	ORPHA:520
HP:0012614	Abnormal urine cytology	81608	FIP1L1	ORPHA:520
HP:0012614	Abnormal urine cytology	4869	NPM1	ORPHA:520
HP:0012614	Abnormal urine cytology	5573	PRKAR1A	ORPHA:520
HP:0012614	Abnormal urine cytology	54880	BCOR	ORPHA:520
HP:0012614	Abnormal urine cytology	64859	NABP1	ORPHA:520
HP:0012614	Abnormal urine cytology	6777	STAT5B	ORPHA:520
HP:0012614	Abnormal urine cytology	4926	NUMA1	ORPHA:520
HP:0012614	Abnormal urine cytology	7704	ZBTB16	ORPHA:520
HP:0012614	Abnormal urine cytology	79718	TBL1XR1	ORPHA:520
HP:0012614	Abnormal urine cytology	2629	GBA1	ORPHA:77261
HP:0012614	Abnormal urine cytology	2629	GBA1	ORPHA:77259
HP:0012614	Abnormal urine cytology	10568	SLC34A2	ORPHA:60025
HP:0012614	Abnormal urine cytology	4643	MYO1E	OMIM:614131
HP:0012614	Abnormal urine cytology	84823	LMNB2	OMIM:608709
HP:0012614	Abnormal urine cytology	7372	UMPS	OMIM:258900
HP:0012614	Abnormal urine cytology	112817	HOGA1	ORPHA:93600
HP:0012614	Abnormal urine cytology	25974	MMACHC	OMIM:277400
HP:0012614	Abnormal urine cytology	5052	PRDX1	OMIM:277400
HP:0012614	Abnormal urine cytology	22909	FAN1	OMIM:614817
HP:0012614	Abnormal urine cytology	950	SCARB2	ORPHA:77259
HP:0012614	Abnormal urine cytology	1288	COL4A6	ORPHA:1018
HP:0012614	Abnormal urine cytology	1287	COL4A5	ORPHA:1018
HP:0012614	Abnormal urine cytology	9663	LPIN2	ORPHA:77297
HP:0012614	Abnormal urine cytology	5087	PBX1	ORPHA:97362
HP:0012614	Abnormal urine cytology	9722	NOS1AP	OMIM:619155
HP:0012614	Abnormal urine cytology	8029	CUBN	OMIM:261100
HP:0012614	Abnormal urine cytology	64423	INF2	OMIM:613237
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:310468
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:308990
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:300009
HP:0012614	Abnormal urine cytology	2335	FN1	ORPHA:84090
HP:0012614	Abnormal urine cytology	2335	FN1	OMIM:601894
HP:0012614	Abnormal urine cytology	2147	F2	ORPHA:325
HP:0012614	Abnormal urine cytology	81494	CFHR5	OMIM:614809
HP:0012614	Abnormal urine cytology	23630	KCNE5	ORPHA:86818
HP:0012614	Abnormal urine cytology	2182	ACSL4	ORPHA:86818
HP:0012614	Abnormal urine cytology	9949	AMMECR1	ORPHA:86818
HP:0012614	Abnormal urine cytology	79902	NUP85	OMIM:618176
HP:0012614	Abnormal urine cytology	50485	SMARCAL1	ORPHA:1830
HP:0012614	Abnormal urine cytology	11093	ADAMTS13	OMIM:274150
HP:0012614	Abnormal urine cytology	975	CD81	OMIM:613496
HP:0012614	Abnormal urine cytology	2157	F8	ORPHA:169802
HP:0012614	Abnormal urine cytology	3674	ITGA2B	ORPHA:849
HP:0012614	Abnormal urine cytology	3690	ITGB3	ORPHA:849
HP:0012614	Abnormal urine cytology	2811	GP1BA	ORPHA:274
HP:0012614	Abnormal urine cytology	2812	GP1BB	ORPHA:274
HP:0012614	Abnormal urine cytology	2815	GP9	ORPHA:274
HP:0012614	Abnormal urine cytology	3251	HPRT1	ORPHA:79233
HP:0012614	Abnormal urine cytology	353	APRT	ORPHA:976
HP:0012618	Urachal cyst	5880	RAC2	OMIM:608203
HP:0012619	Multiple bladder diverticula	8425	LTBP4	OMIM:613177
HP:0012619	Multiple bladder diverticula	4052	LTBP1	ORPHA:90349
HP:0012619	Multiple bladder diverticula	30008	EFEMP2	ORPHA:90349
HP:0012619	Multiple bladder diverticula	10516	FBLN5	ORPHA:90349
HP:0012619	Multiple bladder diverticula	6595	SMARCA2	ORPHA:2728
HP:0002529	Neuronal loss in central nervous system	5274	SERPINI1	OMIM:604218
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:600274
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:601104
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:172700
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	5663	PSEN1	OMIM:600274
HP:0002529	Neuronal loss in central nervous system	5663	PSEN1	OMIM:172700
HP:0002529	Neuronal loss in central nervous system	5621	PRNP	ORPHA:282166
HP:0002529	Neuronal loss in central nervous system	5621	PRNP	OMIM:600072
HP:0002529	Neuronal loss in central nervous system	9997	SCO2	OMIM:604377
HP:0002529	Neuronal loss in central nervous system	6904	TBCD	OMIM:617193
HP:0002529	Neuronal loss in central nervous system	25978	CHMP2B	OMIM:600795
HP:0002529	Neuronal loss in central nervous system	1436	CSF1R	OMIM:221820
HP:0002529	Neuronal loss in central nervous system	10479	SLC9A6	ORPHA:85278
HP:0002529	Neuronal loss in central nervous system	10479	SLC9A6	OMIM:300243
HP:0002529	Neuronal loss in central nervous system	2521	FUS	OMIM:608030
HP:0002529	Neuronal loss in central nervous system	5173	PDYN	OMIM:610245
HP:0002529	Neuronal loss in central nervous system	1786	DNMT1	ORPHA:314404
HP:0002529	Neuronal loss in central nervous system	1509	CTSD	OMIM:610127
HP:0002529	Neuronal loss in central nervous system	5428	POLG	OMIM:203700
HP:0002529	Neuronal loss in central nervous system	4864	NPC1	OMIM:257220
HP:0002529	Neuronal loss in central nervous system	203228	C9orf72	OMIM:105550
HP:0002529	Neuronal loss in central nervous system	2896	GRN	OMIM:607485
HP:0002529	Neuronal loss in central nervous system	9217	VAPB	OMIM:608627
HP:0002529	Neuronal loss in central nervous system	26580	BSCL2	ORPHA:363400
HP:0002529	Neuronal loss in central nervous system	26580	BSCL2	OMIM:615924
HP:0002529	Neuronal loss in central nervous system	9896	FIG4	ORPHA:3472
HP:0002529	Neuronal loss in central nervous system	55697	VAC14	ORPHA:3472
HP:0002529	Neuronal loss in central nervous system	9326	ZNHIT3	OMIM:260565
HP:0002529	Neuronal loss in central nervous system	5277	PIGA	OMIM:300868
HP:0002529	Neuronal loss in central nervous system	8722	CTSF	OMIM:615362
HP:0002529	Neuronal loss in central nervous system	8398	PLA2G6	OMIM:256600
HP:0002529	Neuronal loss in central nervous system	221927	BRAT1	OMIM:614498
HP:0002529	Neuronal loss in central nervous system	5660	PSAP	OMIM:611721
HP:0002529	Neuronal loss in central nervous system	79731	NARS2	OMIM:616239
HP:0002529	Neuronal loss in central nervous system	2747	GLUD2	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	126	ADH1C	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	2629	GBA1	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	4929	NR4A2	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6908	TBP	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6908	TBP	ORPHA:98759
HP:0002529	Neuronal loss in central nervous system	6908	TBP	OMIM:607136
HP:0002529	Neuronal loss in central nervous system	4576	MT-TT	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	9627	SNCAIP	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6311	ATXN2	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6315	ATXN8OS	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	57582	KCNT1	OMIM:614959
HP:0002529	Neuronal loss in central nervous system	3064	HTT	OMIM:143100
HP:0002401	Stroke-like episode	5621	PRNP	ORPHA:282166
HP:0002401	Stroke-like episode	4702	NDUFA8	OMIM:619272
HP:0002401	Stroke-like episode	4512	MT-CO1	OMIM:540000
HP:0002401	Stroke-like episode	4512	MT-CO1	ORPHA:550
HP:0002401	Stroke-like episode	4513	MT-CO2	OMIM:540000
HP:0002401	Stroke-like episode	4513	MT-CO2	ORPHA:550
HP:0002401	Stroke-like episode	4514	MT-CO3	OMIM:540000
HP:0002401	Stroke-like episode	4514	MT-CO3	ORPHA:550
HP:0002401	Stroke-like episode	4519	MT-CYB	OMIM:540000
HP:0002401	Stroke-like episode	4519	MT-CYB	ORPHA:137675
HP:0002401	Stroke-like episode	4511	MT-TC	OMIM:540000
HP:0002401	Stroke-like episode	4574	MT-TS1	OMIM:540000
HP:0002401	Stroke-like episode	4574	MT-TS1	ORPHA:550
HP:0002401	Stroke-like episode	4575	MT-TS2	OMIM:540000
HP:0002401	Stroke-like episode	4575	MT-TS2	ORPHA:550
HP:0002401	Stroke-like episode	4558	MT-TF	OMIM:540000
HP:0002401	Stroke-like episode	4558	MT-TF	ORPHA:550
HP:0002401	Stroke-like episode	4541	MT-ND6	OMIM:540000
HP:0002401	Stroke-like episode	4541	MT-ND6	ORPHA:550
HP:0002401	Stroke-like episode	4567	MT-TL1	OMIM:540000
HP:0002401	Stroke-like episode	4567	MT-TL1	ORPHA:550
HP:0002401	Stroke-like episode	4540	MT-ND5	OMIM:540000
HP:0002401	Stroke-like episode	4540	MT-ND5	ORPHA:550
HP:0002401	Stroke-like episode	4566	MT-TK	OMIM:540000
HP:0002401	Stroke-like episode	4535	MT-ND1	OMIM:540000
HP:0002401	Stroke-like episode	4535	MT-ND1	ORPHA:550
HP:0002401	Stroke-like episode	4572	MT-TQ	OMIM:540000
HP:0002401	Stroke-like episode	4572	MT-TQ	ORPHA:550
HP:0002401	Stroke-like episode	4577	MT-TV	OMIM:540000
HP:0002401	Stroke-like episode	4578	MT-TW	OMIM:540000
HP:0002401	Stroke-like episode	4578	MT-TW	ORPHA:550
HP:0002401	Stroke-like episode	5654	HTRA1	ORPHA:199354
HP:0002401	Stroke-like episode	1798	DPAGT1	ORPHA:86309
HP:0002401	Stroke-like episode	7466	WFS1	OMIM:222300
HP:0002401	Stroke-like episode	4538	MT-ND4	ORPHA:550
HP:0002401	Stroke-like episode	4564	MT-TH	ORPHA:550
HP:0002401	Stroke-like episode	3980	LIG3	OMIM:619780
HP:0002401	Stroke-like episode	54344	DPM3	ORPHA:263494
HP:0002401	Stroke-like episode	6786	STIM1	OMIM:185070
HP:0002401	Stroke-like episode	91869	RFT1	ORPHA:244310
HP:0002401	Stroke-like episode	23600	AMACR	ORPHA:79095
HP:0002401	Stroke-like episode	5373	PMM2	OMIM:212065
HP:0002401	Stroke-like episode	10128	LRPPRC	ORPHA:70472
HP:0002401	Stroke-like episode	7276	TTR	OMIM:105210
HP:0002403	Positive Romberg sign	23646	PLD3	OMIM:617770
HP:0002403	Positive Romberg sign	28982	FLVCR1	ORPHA:88628
HP:0002403	Positive Romberg sign	28982	FLVCR1	OMIM:609033
HP:0002403	Positive Romberg sign	80207	OPA3	ORPHA:67036
HP:0002403	Positive Romberg sign	64207	IRF2BPL	OMIM:618088
HP:0002403	Positive Romberg sign	7515	XRCC1	OMIM:617633
HP:0002403	Positive Romberg sign	80208	SPG11	OMIM:616668
HP:0002403	Positive Romberg sign	5428	POLG	OMIM:258450
HP:0002403	Positive Romberg sign	5428	POLG	ORPHA:94125
HP:0002403	Positive Romberg sign	5428	POLG	ORPHA:70595
HP:0002403	Positive Romberg sign	5428	POLG	OMIM:607459
HP:0002403	Positive Romberg sign	5457	POU4F1	ORPHA:314647
HP:0002403	Positive Romberg sign	23261	CAMTA1	ORPHA:314647
HP:0002403	Positive Romberg sign	5293	PIK3CD	ORPHA:221139
HP:0002403	Positive Romberg sign	90417	KNSTRN	ORPHA:221139
HP:0002403	Positive Romberg sign	7276	TTR	OMIM:105210
HP:0002403	Positive Romberg sign	56652	TWNK	ORPHA:70595
HP:0002403	Positive Romberg sign	56652	TWNK	OMIM:607459
HP:0002403	Positive Romberg sign	56652	TWNK	OMIM:616138
HP:0002403	Positive Romberg sign	11128	POLR3A	ORPHA:447896
HP:0002403	Positive Romberg sign	4547	MTTP	ORPHA:14
HP:0002403	Positive Romberg sign	8566	PDXK	OMIM:618511
HP:0002403	Positive Romberg sign	246243	RNASEH1	OMIM:616479
HP:0002403	Positive Romberg sign	5981	RFC1	OMIM:614575
HP:0002403	Positive Romberg sign	79628	SH3TC2	ORPHA:99949
HP:0002403	Positive Romberg sign	9750	RIPOR2	OMIM:616515
HP:0002403	Positive Romberg sign	7274	TTPA	OMIM:277460
HP:0002403	Positive Romberg sign	81790	RNF170	OMIM:608984
HP:0002403	Positive Romberg sign	4747	NEFL	ORPHA:101085
HP:0002403	Positive Romberg sign	6908	TBP	OMIM:607136
HP:0002403	Positive Romberg sign	9927	MFN2	OMIM:601152
HP:0002403	Positive Romberg sign	9516	LITAF	OMIM:601098
HP:0002404	Thickened superior cerebellar peduncle	80184	CEP290	OMIM:610188
HP:0002404	Thickened superior cerebellar peduncle	51259	TMEM216	OMIM:608091
HP:0002404	Thickened superior cerebellar peduncle	91147	TMEM67	OMIM:610688
HP:0002404	Thickened superior cerebellar peduncle	4867	NPHP1	OMIM:609583
HP:0002406	Limb dysmetria	50484	RRM2B	ORPHA:329336
HP:0002406	Limb dysmetria	246243	RNASEH1	ORPHA:329336
HP:0002406	Limb dysmetria	5521	PPP2R2B	ORPHA:98762
HP:0002406	Limb dysmetria	9420	CYP7B1	OMIM:270800
HP:0002406	Limb dysmetria	3748	KCNC3	OMIM:605259
HP:0002406	Limb dysmetria	2911	GRM1	ORPHA:324262
HP:0002406	Limb dysmetria	6575	SLC20A2	OMIM:213600
HP:0002406	Limb dysmetria	5155	PDGFB	OMIM:213600
HP:0002406	Limb dysmetria	5159	PDGFRB	OMIM:213600
HP:0002406	Limb dysmetria	9897	WASHC5	ORPHA:100989
HP:0002406	Limb dysmetria	57704	GBA2	OMIM:614409
HP:0002406	Limb dysmetria	1600	DAB1	ORPHA:363710
HP:0002406	Limb dysmetria	5428	POLG	ORPHA:94125
HP:0002406	Limb dysmetria	4763	NF1	ORPHA:363700
HP:0002408	Cerebral arteriovenous malformation	3845	KRAS	OMIM:108010
HP:0002408	Cerebral arteriovenous malformation	3569	IL6	OMIM:108010
HP:0002408	Cerebral arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0002408	Cerebral arteriovenous malformation	2022	ENG	OMIM:187300
HP:0002408	Cerebral arteriovenous malformation	2050	EPHB4	ORPHA:137667
HP:0002408	Cerebral arteriovenous malformation	5921	RASA1	ORPHA:137667
HP:0002408	Cerebral arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0002408	Cerebral arteriovenous malformation	4089	SMAD4	OMIM:175050
HP:0012620	Cloacal abnormality	6862	TBXT	OMIM:615709
HP:0012621	Persistent cloaca	6862	TBXT	OMIM:615709
HP:0012622	Chronic kidney disease	51726	DNAJB11	OMIM:618061
HP:0012622	Chronic kidney disease	51726	DNAJB11	ORPHA:730
HP:0012622	Chronic kidney disease	261734	NPHP4	OMIM:606996
HP:0012622	Chronic kidney disease	261734	NPHP4	OMIM:606966
HP:0012622	Chronic kidney disease	261734	NPHP4	ORPHA:3156
HP:0012622	Chronic kidney disease	1497	CTNS	OMIM:219800
HP:0012622	Chronic kidney disease	1497	CTNS	OMIM:219900
HP:0012622	Chronic kidney disease	1497	CTNS	ORPHA:411634
HP:0012622	Chronic kidney disease	9722	NOS1AP	OMIM:619155
HP:0012622	Chronic kidney disease	92482	BBIP1	OMIM:615995
HP:0012622	Chronic kidney disease	10806	SDCCAG8	OMIM:615993
HP:0012622	Chronic kidney disease	10806	SDCCAG8	ORPHA:3156
HP:0012622	Chronic kidney disease	4010	LMX1B	ORPHA:2614
HP:0012622	Chronic kidney disease	4010	LMX1B	OMIM:256020
HP:0012622	Chronic kidney disease	54585	LZTFL1	OMIM:615994
HP:0012622	Chronic kidney disease	80184	CEP290	OMIM:610188
HP:0012622	Chronic kidney disease	80184	CEP290	OMIM:610189
HP:0012622	Chronic kidney disease	80184	CEP290	ORPHA:3156
HP:0012622	Chronic kidney disease	57122	NUP107	OMIM:618348
HP:0012622	Chronic kidney disease	57122	NUP107	OMIM:616730
HP:0012622	Chronic kidney disease	57122	NUP107	ORPHA:656
HP:0012622	Chronic kidney disease	55746	NUP133	OMIM:618349
HP:0012622	Chronic kidney disease	55746	NUP133	ORPHA:656
HP:0012622	Chronic kidney disease	55746	NUP133	OMIM:618177
HP:0012622	Chronic kidney disease	718	C3	OMIM:612925
HP:0012622	Chronic kidney disease	4867	NPHP1	OMIM:609583
HP:0012622	Chronic kidney disease	4867	NPHP1	OMIM:266900
HP:0012622	Chronic kidney disease	4867	NPHP1	OMIM:256100
HP:0012622	Chronic kidney disease	4867	NPHP1	ORPHA:3156
HP:0012622	Chronic kidney disease	91147	TMEM67	OMIM:216360
HP:0012622	Chronic kidney disease	91147	TMEM67	ORPHA:84081
HP:0012622	Chronic kidney disease	91147	TMEM67	OMIM:613550
HP:0012622	Chronic kidney disease	91147	TMEM67	OMIM:610688
HP:0012622	Chronic kidney disease	4210	MEFV	OMIM:249100
HP:0012622	Chronic kidney disease	396	ARHGDIA	OMIM:615244
HP:0012622	Chronic kidney disease	396	ARHGDIA	ORPHA:656
HP:0012622	Chronic kidney disease	1184	CLCN5	OMIM:300009
HP:0012622	Chronic kidney disease	10677	AVIL	OMIM:618594
HP:0012622	Chronic kidney disease	137682	NDUFAF6	OMIM:618913
HP:0012622	Chronic kidney disease	137682	NDUFAF6	ORPHA:3337
HP:0012622	Chronic kidney disease	23322	RPGRIP1L	OMIM:611560
HP:0012622	Chronic kidney disease	23322	RPGRIP1L	OMIM:619113
HP:0012622	Chronic kidney disease	10847	SRCAP	ORPHA:2044
HP:0012622	Chronic kidney disease	84520	GON7	OMIM:619603
HP:0012622	Chronic kidney disease	8526	DGKE	OMIM:615008
HP:0012622	Chronic kidney disease	51473	DCDC2	OMIM:616217
HP:0012622	Chronic kidney disease	51473	DCDC2	ORPHA:84081
HP:0012622	Chronic kidney disease	1287	COL4A5	OMIM:301050
HP:0012622	Chronic kidney disease	1287	COL4A5	ORPHA:1018
HP:0012622	Chronic kidney disease	977	CD151	OMIM:609057
HP:0012622	Chronic kidney disease	79693	YRDC	OMIM:619609
HP:0012622	Chronic kidney disease	2542	SLC37A4	ORPHA:79259
HP:0012622	Chronic kidney disease	4868	NPHS1	ORPHA:656
HP:0012622	Chronic kidney disease	23607	CD2AP	ORPHA:656
HP:0012622	Chronic kidney disease	9688	NUP93	ORPHA:656
HP:0012622	Chronic kidney disease	9688	NUP93	OMIM:616892
HP:0012622	Chronic kidney disease	4643	MYO1E	ORPHA:656
HP:0012622	Chronic kidney disease	4643	MYO1E	OMIM:614131
HP:0012622	Chronic kidney disease	64423	INF2	ORPHA:656
HP:0012622	Chronic kidney disease	64423	INF2	OMIM:613237
HP:0012622	Chronic kidney disease	64423	INF2	OMIM:614455
HP:0012622	Chronic kidney disease	26130	GAPVD1	ORPHA:656
HP:0012622	Chronic kidney disease	7490	WT1	ORPHA:656
HP:0012622	Chronic kidney disease	7490	WT1	OMIM:194080
HP:0012622	Chronic kidney disease	7490	WT1	OMIM:136680
HP:0012622	Chronic kidney disease	51479	ANKFY1	ORPHA:656
HP:0012622	Chronic kidney disease	54443	ANLN	ORPHA:656
HP:0012622	Chronic kidney disease	54443	ANLN	OMIM:616032
HP:0012622	Chronic kidney disease	5800	PTPRO	ORPHA:656
HP:0012622	Chronic kidney disease	5800	PTPRO	OMIM:614196
HP:0012622	Chronic kidney disease	286204	CRB2	ORPHA:656
HP:0012622	Chronic kidney disease	23165	NUP205	ORPHA:656
HP:0012622	Chronic kidney disease	23165	NUP205	OMIM:616893
HP:0012622	Chronic kidney disease	2013	EMP2	ORPHA:656
HP:0012622	Chronic kidney disease	79023	NUP37	ORPHA:656
HP:0012622	Chronic kidney disease	51196	PLCE1	ORPHA:656
HP:0012622	Chronic kidney disease	51196	PLCE1	OMIM:610725
HP:0012622	Chronic kidney disease	79902	NUP85	ORPHA:656
HP:0012622	Chronic kidney disease	79902	NUP85	OMIM:618176
HP:0012622	Chronic kidney disease	1285	COL4A3	ORPHA:656
HP:0012622	Chronic kidney disease	1285	COL4A3	OMIM:203780
HP:0012622	Chronic kidney disease	1285	COL4A3	OMIM:104200
HP:0012622	Chronic kidney disease	79934	COQ8B	ORPHA:656
HP:0012622	Chronic kidney disease	79934	COQ8B	OMIM:615573
HP:0012622	Chronic kidney disease	23279	NUP160	ORPHA:656
HP:0012622	Chronic kidney disease	9863	MAGI2	ORPHA:656
HP:0012622	Chronic kidney disease	9863	MAGI2	OMIM:617609
HP:0012622	Chronic kidney disease	81	ACTN4	ORPHA:656
HP:0012622	Chronic kidney disease	81	ACTN4	OMIM:603278
HP:0012622	Chronic kidney disease	7225	TRPC6	ORPHA:656
HP:0012622	Chronic kidney disease	7225	TRPC6	OMIM:603965
HP:0012622	Chronic kidney disease	8542	APOL1	ORPHA:656
HP:0012622	Chronic kidney disease	8542	APOL1	OMIM:612551
HP:0012622	Chronic kidney disease	54885	TBC1D8B	ORPHA:656
HP:0012622	Chronic kidney disease	54885	TBC1D8B	OMIM:301028
HP:0012622	Chronic kidney disease	7827	NPHS2	ORPHA:656
HP:0012622	Chronic kidney disease	7827	NPHS2	OMIM:600995
HP:0012622	Chronic kidney disease	83478	ARHGAP24	ORPHA:656
HP:0012622	Chronic kidney disease	23500	DAAM2	ORPHA:656
HP:0012622	Chronic kidney disease	5076	PAX2	ORPHA:656
HP:0012622	Chronic kidney disease	5076	PAX2	OMIM:616002
HP:0012622	Chronic kidney disease	5076	PAX2	OMIM:120330
HP:0012622	Chronic kidney disease	23193	GANAB	ORPHA:730
HP:0012622	Chronic kidney disease	5310	PKD1	ORPHA:730
HP:0012622	Chronic kidney disease	5311	PKD2	ORPHA:730
HP:0012622	Chronic kidney disease	5311	PKD2	OMIM:613095
HP:0012622	Chronic kidney disease	29880	ALG5	ORPHA:730
HP:0012622	Chronic kidney disease	29880	ALG5	OMIM:620056
HP:0012622	Chronic kidney disease	9742	IFT140	ORPHA:730
HP:0012622	Chronic kidney disease	9742	IFT140	OMIM:266920
HP:0012622	Chronic kidney disease	79796	ALG9	ORPHA:730
HP:0012622	Chronic kidney disease	80114	BICC1	ORPHA:730
HP:0012622	Chronic kidney disease	23005	MAPKBP1	OMIM:617271
HP:0012622	Chronic kidney disease	6928	HNF1B	OMIM:137920
HP:0012622	Chronic kidney disease	3911	LAMA5	OMIM:620049
HP:0012622	Chronic kidney disease	26146	TRAF3IP1	OMIM:616629
HP:0012622	Chronic kidney disease	26146	TRAF3IP1	ORPHA:3156
HP:0012622	Chronic kidney disease	3913	LAMB2	OMIM:609049
HP:0012622	Chronic kidney disease	3913	LAMB2	OMIM:614199
HP:0012622	Chronic kidney disease	4594	MMUT	OMIM:251000
HP:0012622	Chronic kidney disease	55764	IFT122	OMIM:218330
HP:0012622	Chronic kidney disease	25778	DSTYK	OMIM:610805
HP:0012622	Chronic kidney disease	54806	AHI1	OMIM:608629
HP:0012622	Chronic kidney disease	9056	SLC7A7	OMIM:222700
HP:0012622	Chronic kidney disease	55863	TMEM126B	OMIM:618250
HP:0012622	Chronic kidney disease	27031	NPHP3	OMIM:267010
HP:0012622	Chronic kidney disease	27031	NPHP3	OMIM:604387
HP:0012622	Chronic kidney disease	27031	NPHP3	OMIM:208540
HP:0012622	Chronic kidney disease	27031	NPHP3	ORPHA:3156
HP:0012622	Chronic kidney disease	203286	ANKS6	OMIM:615382
HP:0012622	Chronic kidney disease	254428	SLC41A1	OMIM:619468
HP:0012622	Chronic kidney disease	149461	CLDN19	OMIM:248190
HP:0012622	Chronic kidney disease	4582	MUC1	OMIM:174000
HP:0012622	Chronic kidney disease	55644	OSGEP	OMIM:617729
HP:0012622	Chronic kidney disease	27130	INVS	OMIM:602088
HP:0012622	Chronic kidney disease	27130	INVS	ORPHA:3156
HP:0012622	Chronic kidney disease	7840	ALMS1	ORPHA:64
HP:0012622	Chronic kidney disease	7809	BSND	ORPHA:89938
HP:0012622	Chronic kidney disease	1188	CLCNKB	ORPHA:89938
HP:0012622	Chronic kidney disease	1187	CLCNKA	ORPHA:89938
HP:0012622	Chronic kidney disease	10269	ZMPSTE24	OMIM:608612
HP:0012622	Chronic kidney disease	112858	TP53RK	OMIM:617730
HP:0012622	Chronic kidney disease	8879	SGPL1	OMIM:617575
HP:0012622	Chronic kidney disease	8270	LAGE3	OMIM:301006
HP:0012622	Chronic kidney disease	57545	CC2D2A	OMIM:612285
HP:0012622	Chronic kidney disease	975	CD81	OMIM:613496
HP:0012622	Chronic kidney disease	1286	COL4A4	OMIM:203780
HP:0012622	Chronic kidney disease	51002	TPRKB	OMIM:617731
HP:0012622	Chronic kidney disease	199221	DZIP1L	OMIM:617610
HP:0012622	Chronic kidney disease	199221	DZIP1L	ORPHA:731
HP:0012622	Chronic kidney disease	5580	PRKCD	OMIM:615559
HP:0012622	Chronic kidney disease	54796	BNC2	ORPHA:93110
HP:0012622	Chronic kidney disease	4952	OCRL	OMIM:309000
HP:0012622	Chronic kidney disease	79809	TTC21B	OMIM:613819
HP:0012622	Chronic kidney disease	79809	TTC21B	OMIM:613820
HP:0012622	Chronic kidney disease	189	AGXT	ORPHA:93598
HP:0012622	Chronic kidney disease	2335	FN1	OMIM:601894
HP:0012622	Chronic kidney disease	100147744	RNU7-1	OMIM:619487
HP:0012622	Chronic kidney disease	2934	GSN	ORPHA:85448
HP:0012622	Chronic kidney disease	50485	SMARCAL1	ORPHA:1830
HP:0012622	Chronic kidney disease	50485	SMARCAL1	OMIM:242900
HP:0012622	Chronic kidney disease	182	JAG1	OMIM:118450
HP:0012622	Chronic kidney disease	10253	SPRY2	OMIM:616818
HP:0012622	Chronic kidney disease	284086	NEK8	OMIM:613824
HP:0012622	Chronic kidney disease	5314	PKHD1	ORPHA:731
HP:0012622	Chronic kidney disease	93649	MYOCD	OMIM:618719
HP:0012622	Chronic kidney disease	353	APRT	ORPHA:976
HP:0012622	Chronic kidney disease	9657	IQCB1	OMIM:609254
HP:0012622	Chronic kidney disease	9657	IQCB1	ORPHA:3156
HP:0012622	Chronic kidney disease	1962	EHHADH	ORPHA:3337
HP:0012622	Chronic kidney disease	2628	GATM	ORPHA:3337
HP:0012622	Chronic kidney disease	6569	SLC34A1	ORPHA:3337
HP:0012622	Chronic kidney disease	5889	RAD51C	OMIM:613390
HP:0012622	Chronic kidney disease	79989	IFT56	OMIM:619534
HP:0012622	Chronic kidney disease	50484	RRM2B	OMIM:268315
HP:0012622	Chronic kidney disease	57728	WDR19	OMIM:616307
HP:0012622	Chronic kidney disease	57728	WDR19	OMIM:614378
HP:0012622	Chronic kidney disease	57728	WDR19	OMIM:614376
HP:0012622	Chronic kidney disease	57728	WDR19	OMIM:614377
HP:0012622	Chronic kidney disease	57728	WDR19	ORPHA:3156
HP:0012622	Chronic kidney disease	63929	XPNPEP3	OMIM:613159
HP:0012622	Chronic kidney disease	3458	IFNG	ORPHA:805
HP:0012622	Chronic kidney disease	7248	TSC1	ORPHA:805
HP:0012622	Chronic kidney disease	7249	TSC2	ORPHA:805
HP:0012622	Chronic kidney disease	84662	GLIS2	OMIM:611498
HP:0012622	Chronic kidney disease	1376	CPT2	ORPHA:228302
HP:0012622	Chronic kidney disease	64127	NOD2	ORPHA:90340
HP:0012622	Chronic kidney disease	81494	CFHR5	OMIM:614809
HP:0012622	Chronic kidney disease	79583	TMEM231	ORPHA:2752
HP:0012622	Chronic kidney disease	112752	IFT43	OMIM:614099
HP:0012622	Chronic kidney disease	51004	COQ6	OMIM:614650
HP:0012622	Chronic kidney disease	51134	CEP83	OMIM:615862
HP:0012622	Chronic kidney disease	9935	MAFB	OMIM:166300
HP:0012622	Chronic kidney disease	22897	CEP164	ORPHA:3156
HP:0012622	Chronic kidney disease	22909	FAN1	OMIM:614817
HP:0012622	Chronic kidney disease	1288	COL4A6	ORPHA:1018
HP:0012622	Chronic kidney disease	54345	SOX18	OMIM:137940
HP:0012622	Chronic kidney disease	2639	GCDH	ORPHA:25
HP:0012622	Chronic kidney disease	25970	SH2B1	ORPHA:261222
HP:0012622	Chronic kidney disease	3939	LDHA	ORPHA:284426
HP:0012622	Chronic kidney disease	5087	PBX1	ORPHA:97362
HP:0012622	Chronic kidney disease	5972	REN	OMIM:613092
HP:0012622	Chronic kidney disease	29927	SEC61A1	OMIM:617056
HP:0012622	Chronic kidney disease	26160	IFT172	OMIM:615630
HP:0012622	Chronic kidney disease	2321	FLT1	ORPHA:275555
HP:0012622	Chronic kidney disease	219736	STOX1	ORPHA:275555
HP:0012622	Chronic kidney disease	10699	CORIN	ORPHA:275555
HP:0012622	Chronic kidney disease	56606	SLC2A9	ORPHA:94088
HP:0012622	Chronic kidney disease	116085	SLC22A12	ORPHA:94088
HP:0012622	Chronic kidney disease	229	ALDOB	ORPHA:469
HP:0012622	Chronic kidney disease	4312	MMP1	ORPHA:79408
HP:0012622	Chronic kidney disease	1294	COL7A1	ORPHA:79408
HP:0012622	Chronic kidney disease	3075	CFH	OMIM:609814
HP:0012622	Chronic kidney disease	374879	ZNF699	OMIM:619488
HP:0012622	Chronic kidney disease	8942	KYNU	OMIM:617661
HP:0012622	Chronic kidney disease	6288	SAA1	ORPHA:85445
HP:0012622	Chronic kidney disease	2625	GATA3	OMIM:146255
HP:0012622	Chronic kidney disease	10686	CLDN16	OMIM:248250
HP:0012622	Chronic kidney disease	3190	HNRNPK	OMIM:616580
HP:0012622	Chronic kidney disease	5837	PYGM	ORPHA:368
HP:0012622	Chronic kidney disease	83480	PUS3	ORPHA:488627
HP:0012622	Chronic kidney disease	9451	EIF2AK3	ORPHA:1667
HP:0012622	Chronic kidney disease	5277	PIGA	ORPHA:447
HP:0012622	Chronic kidney disease	4914	NTRK1	ORPHA:642
HP:0012622	Chronic kidney disease	5498	PPOX	ORPHA:79473
HP:0012622	Chronic kidney disease	54938	SARS2	OMIM:613845
HP:0012622	Chronic kidney disease	567	B2M	ORPHA:314652
HP:0012622	Chronic kidney disease	54	ACP5	ORPHA:1855
HP:0012622	Chronic kidney disease	91461	PKDCC	OMIM:618821
HP:0012622	Chronic kidney disease	1136	CHRNA3	OMIM:191800
HP:0012622	Chronic kidney disease	6522	SLC4A2	OMIM:620366
HP:0012622	Chronic kidney disease	5442	POLRMT	OMIM:619743
HP:0012622	Chronic kidney disease	10463	SLC30A9	OMIM:617595
HP:0012622	Chronic kidney disease	5631	PRPS1	ORPHA:411536
HP:0012624	Stage 2 chronic kidney disease	1136	CHRNA3	OMIM:191800
HP:0012625	Stage 3 chronic kidney disease	23279	NUP160	OMIM:618178
HP:0012625	Stage 3 chronic kidney disease	6522	SLC4A2	OMIM:620366
HP:0012625	Stage 3 chronic kidney disease	5442	POLRMT	OMIM:619743
HP:0012625	Stage 3 chronic kidney disease	10463	SLC30A9	OMIM:617595
HP:0012626	Stage 4 chronic kidney disease	5631	PRPS1	ORPHA:411536
HP:0012627	Pseudoexfoliation	4016	LOXL1	OMIM:177650
HP:0012628	Abnormal suspensory ligament of lens morphology	114902	C1QTNF5	ORPHA:67042
HP:0012629	Phakodonesis	444	ASPH	OMIM:601552
HP:0012629	Phakodonesis	4016	LOXL1	OMIM:177650
HP:0012629	Phakodonesis	170691	ADAMTS17	OMIM:613195
HP:0012623	Stage 1 chronic kidney disease	91461	PKDCC	OMIM:618821
HP:0012623	Stage 1 chronic kidney disease	55764	IFT122	OMIM:218330
HP:0002410	Aqueductal stenosis	7547	ZIC3	OMIM:306955
HP:0002410	Aqueductal stenosis	4763	NF1	OMIM:162200
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93260
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93258
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93259
HP:0002410	Aqueductal stenosis	10262	SF3B4	OMIM:154400
HP:0002410	Aqueductal stenosis	10262	SF3B4	ORPHA:1788
HP:0002410	Aqueductal stenosis	23007	PLCH1	OMIM:619895
HP:0002410	Aqueductal stenosis	3897	L1CAM	ORPHA:2182
HP:0002410	Aqueductal stenosis	3897	L1CAM	OMIM:307000
HP:0002410	Aqueductal stenosis	1182	CLCN3	OMIM:619512
HP:0002410	Aqueductal stenosis	79989	IFT56	OMIM:619534
HP:0002410	Aqueductal stenosis	80199	FUZ	ORPHA:1136
HP:0002410	Aqueductal stenosis	9990	SLC12A6	ORPHA:1496
HP:0002410	Aqueductal stenosis	51002	TPRKB	ORPHA:2065
HP:0002410	Aqueductal stenosis	84942	WDR73	ORPHA:2065
HP:0002410	Aqueductal stenosis	55644	OSGEP	ORPHA:2065
HP:0002410	Aqueductal stenosis	57122	NUP107	ORPHA:2065
HP:0002410	Aqueductal stenosis	10785	WDR4	ORPHA:2065
HP:0002410	Aqueductal stenosis	55746	NUP133	ORPHA:2065
HP:0002410	Aqueductal stenosis	112858	TP53RK	ORPHA:2065
HP:0002410	Aqueductal stenosis	8270	LAGE3	ORPHA:2065
HP:0002410	Aqueductal stenosis	8905	AP1S2	OMIM:304340
HP:0002410	Aqueductal stenosis	2260	FGFR1	ORPHA:93258
HP:0002410	Aqueductal stenosis	55636	CHD7	ORPHA:138
HP:0002410	Aqueductal stenosis	9723	SEMA3E	ORPHA:138
HP:0002410	Aqueductal stenosis	6599	SMARCC1	OMIM:620241
HP:0002410	Aqueductal stenosis	29980	DONSON	OMIM:251230
HP:0002410	Aqueductal stenosis	2187	FANCB	ORPHA:3412
HP:0002411	Myokymia	5521	PPP2R2B	OMIM:604326
HP:0002411	Myokymia	111	ADCY5	OMIM:606703
HP:0002411	Myokymia	111	ADCY5	ORPHA:324588
HP:0002411	Myokymia	23400	ATP13A2	ORPHA:513436
HP:0002411	Myokymia	87178	PNPT1	OMIM:608703
HP:0002411	Myokymia	87178	PNPT1	ORPHA:101111
HP:0002411	Myokymia	6712	SPTBN2	OMIM:600224
HP:0002411	Myokymia	215	ABCD1	ORPHA:139396
HP:0002411	Myokymia	5582	PRKCG	OMIM:605361
HP:0002411	Myokymia	487	ATP2A1	OMIM:601003
HP:0002411	Myokymia	3094	HINT1	OMIM:137200
HP:0002411	Myokymia	3094	HINT1	ORPHA:324442
HP:0002411	Myokymia	3736	KCNA1	OMIM:160120
HP:0002411	Myokymia	3736	KCNA1	ORPHA:37612
HP:0002411	Myokymia	2934	GSN	ORPHA:85448
HP:0002411	Myokymia	6647	SOD1	OMIM:618598
HP:0002411	Myokymia	7345	UCHL1	OMIM:615491
HP:0002411	Myokymia	25953	PNKD	OMIM:118800
HP:0002411	Myokymia	22880	MORC2	OMIM:616688
HP:0002411	Myokymia	22880	MORC2	ORPHA:466768
HP:0002411	Myokymia	203190	LGI3	OMIM:620007
HP:0002411	Myokymia	3785	KCNQ2	OMIM:121200
HP:0002411	Myokymia	8913	CACNA1G	ORPHA:458803
HP:0002411	Myokymia	8913	CACNA1G	OMIM:616795
HP:0002411	Myokymia	93627	TBCK	ORPHA:488632
HP:0002414	Spina bifida	11198	SUPT16H	OMIM:619480
HP:0002414	Spina bifida	4010	LMX1B	OMIM:161200
HP:0002414	Spina bifida	284058	KANSL1	ORPHA:363965
HP:0002414	Spina bifida	284058	KANSL1	ORPHA:363958
HP:0002414	Spina bifida	6628	SNRPB	ORPHA:1393
HP:0002414	Spina bifida	6662	SOX9	OMIM:114290
HP:0002414	Spina bifida	2187	FANCB	ORPHA:3412
HP:0002414	Spina bifida	2187	FANCB	ORPHA:84
HP:0002414	Spina bifida	5077	PAX3	ORPHA:894
HP:0002414	Spina bifida	5077	PAX3	OMIM:193500
HP:0002414	Spina bifida	4763	NF1	OMIM:162200
HP:0002414	Spina bifida	672	BRCA1	ORPHA:84
HP:0002414	Spina bifida	10459	MAD2L2	ORPHA:84
HP:0002414	Spina bifida	7516	XRCC2	ORPHA:84
HP:0002414	Spina bifida	29089	UBE2T	ORPHA:84
HP:0002414	Spina bifida	675	BRCA2	ORPHA:84
HP:0002414	Spina bifida	55120	FANCL	ORPHA:84
HP:0002414	Spina bifida	2177	FANCD2	ORPHA:84
HP:0002414	Spina bifida	2175	FANCA	ORPHA:84
HP:0002414	Spina bifida	2176	FANCC	ORPHA:84
HP:0002414	Spina bifida	2178	FANCE	ORPHA:84
HP:0002414	Spina bifida	2188	FANCF	ORPHA:84
HP:0002414	Spina bifida	2189	FANCG	ORPHA:84
HP:0002414	Spina bifida	5888	RAD51	ORPHA:84
HP:0002414	Spina bifida	5889	RAD51C	ORPHA:84
HP:0002414	Spina bifida	55159	RFWD3	ORPHA:84
HP:0002414	Spina bifida	83990	BRIP1	ORPHA:84
HP:0002414	Spina bifida	57697	FANCM	ORPHA:84
HP:0002414	Spina bifida	79728	PALB2	ORPHA:84
HP:0002414	Spina bifida	84464	SLX4	ORPHA:84
HP:0002414	Spina bifida	2072	ERCC4	ORPHA:84
HP:0002414	Spina bifida	55215	FANCI	ORPHA:84
HP:0002414	Spina bifida	9939	RBM8A	OMIM:274000
HP:0002414	Spina bifida	1312	COMT	ORPHA:567
HP:0002414	Spina bifida	221037	JMJD1C	ORPHA:567
HP:0002414	Spina bifida	2812	GP1BB	ORPHA:567
HP:0002414	Spina bifida	6239	RREB1	ORPHA:567
HP:0002414	Spina bifida	6899	TBX1	ORPHA:567
HP:0002414	Spina bifida	7290	HIRA	ORPHA:567
HP:0002414	Spina bifida	9632	SEC24C	ORPHA:567
HP:0002414	Spina bifida	7353	UFD1	ORPHA:567
HP:0002414	Spina bifida	421	ARVCF	ORPHA:567
HP:0002414	Spina bifida	3265	HRAS	ORPHA:2874
HP:0002414	Spina bifida	9573	GDF3	ORPHA:2345
HP:0002414	Spina bifida	392255	GDF6	ORPHA:2345
HP:0002414	Spina bifida	4222	MEOX1	ORPHA:2345
HP:0002414	Spina bifida	29968	PSAT1	OMIM:616038
HP:0002414	Spina bifida	55521	TRIM36	OMIM:206500
HP:0002414	Spina bifida	2313	FLI1	ORPHA:2308
HP:0002414	Spina bifida	60386	SLC25A19	ORPHA:99742
HP:0002414	Spina bifida	26227	PHGDH	OMIM:256520
HP:0002414	Spina bifida	5727	PTCH1	OMIM:109400
HP:0002414	Spina bifida	57167	SALL4	ORPHA:233
HP:0002414	Spina bifida	57167	SALL4	OMIM:607323
HP:0002414	Spina bifida	9935	MAFB	ORPHA:233
HP:0002414	Spina bifida	1123	CHN1	ORPHA:233
HP:0002414	Spina bifida	6095	RORA	OMIM:618060
HP:0002414	Spina bifida	3981	LIG4	ORPHA:235
HP:0002414	Spina bifida	54888	NSUN2	ORPHA:235
HP:0002414	Spina bifida	64840	PORCN	OMIM:305600
HP:0002414	Spina bifida	9791	PTDSS1	OMIM:151050
HP:0002414	Spina bifida	9158	FIBP	ORPHA:500095
HP:0002414	Spina bifida	1387	CREBBP	OMIM:180849
HP:0002414	Spina bifida	2033	EP300	OMIM:180849
HP:0002414	Spina bifida	7148	TNXB	ORPHA:230839
HP:0002414	Spina bifida	92002	CCNQ	OMIM:300707
HP:0002414	Spina bifida	5648	MASP1	OMIM:257920
HP:0002414	Spina bifida	5648	MASP1	ORPHA:293843
HP:0002414	Spina bifida	91754	NEK9	ORPHA:64754
HP:0002414	Spina bifida	60	ACTB	ORPHA:64755
HP:0002414	Spina bifida	6804	STX1A	ORPHA:904
HP:0002414	Spina bifida	7461	CLIP2	ORPHA:904
HP:0002414	Spina bifida	84277	DNAJC30	ORPHA:904
HP:0002414	Spina bifida	8468	FKBP6	ORPHA:904
HP:0002414	Spina bifida	5982	RFC2	ORPHA:904
HP:0002414	Spina bifida	2969	GTF2I	ORPHA:904
HP:0002414	Spina bifida	3984	LIMK1	ORPHA:904
HP:0002414	Spina bifida	9569	GTF2IRD1	ORPHA:904
HP:0002414	Spina bifida	155382	VPS37D	ORPHA:904
HP:0002414	Spina bifida	155368	METTL27	ORPHA:904
HP:0002414	Spina bifida	114049	BUD23	ORPHA:904
HP:0002414	Spina bifida	7458	EIF4H	ORPHA:904
HP:0002414	Spina bifida	84163	GTF2IRD2	ORPHA:904
HP:0002414	Spina bifida	9275	BCL7B	ORPHA:904
HP:0002414	Spina bifida	26608	TBL2	ORPHA:904
HP:0002414	Spina bifida	653361	NCF1	ORPHA:904
HP:0002414	Spina bifida	135886	TMEM270	ORPHA:904
HP:0002414	Spina bifida	51085	MLXIPL	ORPHA:904
HP:0002414	Spina bifida	9031	BAZ1B	ORPHA:904
HP:0002414	Spina bifida	2006	ELN	ORPHA:904
HP:0002414	Spina bifida	145173	B3GLCT	ORPHA:709
HP:0002414	Spina bifida	7545	ZIC1	OMIM:616602
HP:0002414	Spina bifida	7545	ZIC1	OMIM:618736
HP:0002414	Spina bifida	57216	VANGL2	OMIM:182940
HP:0002414	Spina bifida	6347	CCL2	OMIM:182940
HP:0002414	Spina bifida	81839	VANGL1	OMIM:182940
HP:0002414	Spina bifida	6862	TBXT	OMIM:182940
HP:0002414	Spina bifida	80199	FUZ	OMIM:182940
HP:0002414	Spina bifida	5781	PTPN11	ORPHA:500
HP:0002414	Spina bifida	5781	PTPN11	OMIM:151100
HP:0002414	Spina bifida	673	BRAF	ORPHA:500
HP:0002414	Spina bifida	5894	RAF1	ORPHA:500
HP:0002414	Spina bifida	526	ATP6V1B2	ORPHA:79500
HP:0002414	Spina bifida	57465	TBC1D24	ORPHA:79500
HP:0002414	Spina bifida	80781	COL18A1	OMIM:267750
HP:0002414	Spina bifida	8517	IKBKG	ORPHA:464
HP:0002414	Spina bifida	1615	DARS1	OMIM:615281
HP:0002414	Spina bifida	51715	RAB23	OMIM:201000
HP:0002414	Spina bifida	51339	DACT1	OMIM:617466
HP:0002414	Spina bifida	3664	IRF6	OMIM:119500
HP:0002414	Spina bifida	6911	TBX6	ORPHA:1797
HP:0002414	Spina bifida	100996717	NOTCH2NLC	ORPHA:2289
HP:0002414	Spina bifida	139285	AMER1	OMIM:300373
HP:0002414	Spina bifida	139285	AMER1	ORPHA:2780
HP:0002414	Spina bifida	4621	MYH3	OMIM:193700
HP:0002414	Spina bifida	4621	MYH3	ORPHA:2990
HP:0002414	Spina bifida	57492	ARID1B	OMIM:135900
HP:0002414	Spina bifida	3756	KCNH1	OMIM:135500
HP:0002414	Spina bifida	650	BMP2	OMIM:617877
HP:0002414	Spina bifida	134701	RIPPLY2	ORPHA:2311
HP:0002414	Spina bifida	10683	DLL3	ORPHA:2311
HP:0002414	Spina bifida	3955	LFNG	ORPHA:2311
HP:0002414	Spina bifida	84667	HES7	ORPHA:2311
HP:0002414	Spina bifida	84667	HES7	OMIM:613686
HP:0002414	Spina bifida	145873	MESP2	ORPHA:2311
HP:0002414	Spina bifida	10584	COLEC10	ORPHA:293843
HP:0002414	Spina bifida	78989	COLEC11	ORPHA:293843
HP:0002414	Spina bifida	9820	CUL7	OMIM:273750
HP:0002414	Spina bifida	2316	FLNA	ORPHA:1826
HP:0002414	Spina bifida	6885	MAP3K7	ORPHA:1826
HP:0002414	Spina bifida	1146	CHRNG	ORPHA:2990
HP:0002414	Spina bifida	3166	HMX1	OMIM:612109
HP:0002414	Spina bifida	147372	CCBE1	OMIM:235510
HP:0002414	Spina bifida	6223	RPS19	OMIM:105650
HP:0002414	Spina bifida	23299	BICD2	OMIM:618291
HP:0002414	Spina bifida	22827	PUF60	ORPHA:508488
HP:0002414	Spina bifida	9401	RECQL4	OMIM:218600
HP:0002414	Spina bifida	5422	POLA1	OMIM:301030
HP:0002414	Spina bifida	2317	FLNB	OMIM:150250
HP:0002414	Spina bifida	8621	CDK13	OMIM:617360
HP:0002414	Spina bifida	860	RUNX2	ORPHA:1452
HP:0002414	Spina bifida	51729	WBP11	OMIM:619227
HP:0002415	Leukodystrophy	3735	KARS1	OMIM:619196
HP:0002415	Leukodystrophy	5091	PC	OMIM:266150
HP:0002415	Leukodystrophy	55703	POLR3B	OMIM:614381
HP:0002415	Leukodystrophy	55703	POLR3B	OMIM:607694
HP:0002415	Leukodystrophy	54539	NDUFB11	ORPHA:2609
HP:0002415	Leukodystrophy	25915	NDUFAF3	ORPHA:2609
HP:0002415	Leukodystrophy	25915	NDUFAF3	ORPHA:70474
HP:0002415	Leukodystrophy	51103	NDUFAF1	ORPHA:2609
HP:0002415	Leukodystrophy	91942	NDUFAF2	ORPHA:2609
HP:0002415	Leukodystrophy	91942	NDUFAF2	ORPHA:255241
HP:0002415	Leukodystrophy	51300	TIMMDC1	ORPHA:2609
HP:0002415	Leukodystrophy	4716	NDUFB10	ORPHA:2609
HP:0002415	Leukodystrophy	4723	NDUFV1	ORPHA:2609
HP:0002415	Leukodystrophy	4723	NDUFV1	OMIM:618225
HP:0002415	Leukodystrophy	4723	NDUFV1	ORPHA:255241
HP:0002415	Leukodystrophy	55572	FOXRED1	ORPHA:2609
HP:0002415	Leukodystrophy	55572	FOXRED1	ORPHA:255241
HP:0002415	Leukodystrophy	284184	NDUFAF8	ORPHA:2609
HP:0002415	Leukodystrophy	55863	TMEM126B	ORPHA:2609
HP:0002415	Leukodystrophy	4535	MT-ND1	ORPHA:2609
HP:0002415	Leukodystrophy	4537	MT-ND3	ORPHA:2609
HP:0002415	Leukodystrophy	4729	NDUFV2	ORPHA:2609
HP:0002415	Leukodystrophy	4729	NDUFV2	ORPHA:255241
HP:0002415	Leukodystrophy	4694	NDUFA1	ORPHA:2609
HP:0002415	Leukodystrophy	4720	NDUFS2	ORPHA:2609
HP:0002415	Leukodystrophy	4720	NDUFS2	ORPHA:70474
HP:0002415	Leukodystrophy	4720	NDUFS2	ORPHA:255241
HP:0002415	Leukodystrophy	4724	NDUFS4	ORPHA:2609
HP:0002415	Leukodystrophy	4724	NDUFS4	ORPHA:255241
HP:0002415	Leukodystrophy	4724	NDUFS4	OMIM:252010
HP:0002415	Leukodystrophy	4726	NDUFS6	ORPHA:2609
HP:0002415	Leukodystrophy	4728	NDUFS8	ORPHA:2609
HP:0002415	Leukodystrophy	4728	NDUFS8	ORPHA:255241
HP:0002415	Leukodystrophy	4722	NDUFS3	ORPHA:2609
HP:0002415	Leukodystrophy	4722	NDUFS3	ORPHA:255241
HP:0002415	Leukodystrophy	79133	NDUFAF5	ORPHA:2609
HP:0002415	Leukodystrophy	79133	NDUFAF5	ORPHA:255241
HP:0002415	Leukodystrophy	126328	NDUFA11	ORPHA:2609
HP:0002415	Leukodystrophy	4709	NDUFB3	ORPHA:2609
HP:0002415	Leukodystrophy	80224	NUBPL	ORPHA:2609
HP:0002415	Leukodystrophy	80224	NUBPL	OMIM:618242
HP:0002415	Leukodystrophy	29078	NDUFAF4	ORPHA:2609
HP:0002415	Leukodystrophy	374291	NDUFS7	ORPHA:2609
HP:0002415	Leukodystrophy	374291	NDUFS7	ORPHA:255241
HP:0002415	Leukodystrophy	4700	NDUFA6	ORPHA:2609
HP:0002415	Leukodystrophy	4536	MT-ND2	ORPHA:2609
HP:0002415	Leukodystrophy	4719	NDUFS1	ORPHA:2609
HP:0002415	Leukodystrophy	4719	NDUFS1	OMIM:618226
HP:0002415	Leukodystrophy	4719	NDUFS1	ORPHA:255241
HP:0002415	Leukodystrophy	4715	NDUFB9	ORPHA:2609
HP:0002415	Leukodystrophy	26235	FBXL4	OMIM:615471
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309256
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309271
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309263
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309256
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309271
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309263
HP:0002415	Leukodystrophy	11019	LIAS	OMIM:614462
HP:0002415	Leukodystrophy	84504	NKX6-2	ORPHA:527497
HP:0002415	Leukodystrophy	84504	NKX6-2	OMIM:617560
HP:0002415	Leukodystrophy	51501	HIKESHI	OMIM:616881
HP:0002415	Leukodystrophy	6711	SPTBN1	OMIM:619475
HP:0002415	Leukodystrophy	81689	ISCA1	OMIM:617613
HP:0002415	Leukodystrophy	64857	PLEKHG2	OMIM:616763
HP:0002415	Leukodystrophy	100996717	NOTCH2NLC	OMIM:618866
HP:0002415	Leukodystrophy	347734	SLC35B2	OMIM:620269
HP:0002415	Leukodystrophy	4001	LMNB1	OMIM:169500
HP:0002415	Leukodystrophy	1605	DAG1	ORPHA:370997
HP:0002415	Leukodystrophy	1605	DAG1	OMIM:616538
HP:0002415	Leukodystrophy	4714	NDUFB8	ORPHA:70474
HP:0002415	Leukodystrophy	9997	SCO2	ORPHA:70474
HP:0002415	Leukodystrophy	6834	SURF1	ORPHA:70474
HP:0002415	Leukodystrophy	6834	SURF1	ORPHA:255241
HP:0002415	Leukodystrophy	57165	GJC2	OMIM:608804
HP:0002415	Leukodystrophy	51218	GLRX5	ORPHA:401866
HP:0002415	Leukodystrophy	51218	GLRX5	OMIM:616859
HP:0002415	Leukodystrophy	9533	POLR1C	OMIM:616494
HP:0002415	Leukodystrophy	6567	SLC16A2	OMIM:300523
HP:0002415	Leukodystrophy	5189	PEX1	OMIM:601539
HP:0002415	Leukodystrophy	122961	ISCA2	OMIM:616370
HP:0002415	Leukodystrophy	5192	PEX10	OMIM:614871
HP:0002415	Leukodystrophy	9409	PEX16	OMIM:614877
HP:0002415	Leukodystrophy	1910	EDNRB	OMIM:277580
HP:0002415	Leukodystrophy	7284	TUFM	OMIM:610678
HP:0002415	Leukodystrophy	51	ACOX1	OMIM:264470
HP:0002415	Leukodystrophy	1340	COX6B1	OMIM:619051
HP:0002415	Leukodystrophy	6389	SDHA	ORPHA:255241
HP:0002415	Leukodystrophy	80704	SLC19A3	ORPHA:255241
HP:0002415	Leukodystrophy	55967	NDUFA12	ORPHA:255241
HP:0002415	Leukodystrophy	51204	TACO1	ORPHA:255241
HP:0002415	Leukodystrophy	137682	NDUFAF6	ORPHA:255241
HP:0002415	Leukodystrophy	5160	PDHA1	ORPHA:255241
HP:0002415	Leukodystrophy	100131801	PET100	ORPHA:255241
HP:0002415	Leukodystrophy	1355	COX15	ORPHA:255241
HP:0002415	Leukodystrophy	1892	ECHS1	ORPHA:255241
HP:0002415	Leukodystrophy	123263	MTFMT	ORPHA:255241
HP:0002415	Leukodystrophy	51079	NDUFA13	ORPHA:255241
HP:0002415	Leukodystrophy	4705	NDUFA10	ORPHA:255241
HP:0002415	Leukodystrophy	51601	LIPT1	ORPHA:255241
HP:0002415	Leukodystrophy	4695	NDUFA2	ORPHA:255241
HP:0002415	Leukodystrophy	4697	NDUFA4	ORPHA:255241
HP:0002415	Leukodystrophy	4704	NDUFA9	ORPHA:255241
HP:0002415	Leukodystrophy	57551	TAOK1	OMIM:619575
HP:0002415	Leukodystrophy	56915	EXOSC5	OMIM:619576
HP:0002415	Leukodystrophy	23250	ATP11A	OMIM:619851
HP:0002415	Leukodystrophy	5917	RARS1	OMIM:616140
HP:0002415	Leukodystrophy	727676	SNORD118	OMIM:614561
HP:0002415	Leukodystrophy	29920	PYCR2	OMIM:616420
HP:0002415	Leukodystrophy	103	ADAR	OMIM:615010
HP:0002415	Leukodystrophy	103	ADAR	ORPHA:51
HP:0002415	Leukodystrophy	200205	IBA57	OMIM:615330
HP:0002415	Leukodystrophy	133686	NADK2	ORPHA:431361
HP:0002415	Leukodystrophy	133686	NADK2	OMIM:616034
HP:0002415	Leukodystrophy	2058	EPRS1	OMIM:617951
HP:0002415	Leukodystrophy	7965	AIMP2	OMIM:618006
HP:0002415	Leukodystrophy	9725	TMEM63A	OMIM:618688
HP:0002415	Leukodystrophy	2074	ERCC6	OMIM:278800
HP:0002415	Leukodystrophy	85021	REPS1	OMIM:617916
HP:0002415	Leukodystrophy	3431	SP110	ORPHA:79124
HP:0002415	Leukodystrophy	79053	ALG8	ORPHA:79325
HP:0002415	Leukodystrophy	6390	SDHB	OMIM:619224
HP:0002415	Leukodystrophy	8789	FBP2	OMIM:619864
HP:0002415	Leukodystrophy	18	ABAT	OMIM:613163
HP:0002415	Leukodystrophy	55331	ACER3	OMIM:617762
HP:0002415	Leukodystrophy	80169	CTC1	OMIM:612199
HP:0002415	Leukodystrophy	54664	TMEM106B	OMIM:617964
HP:0002415	Leukodystrophy	388962	BOLA3	OMIM:614299
HP:0002415	Leukodystrophy	3329	HSPD1	OMIM:612233
HP:0002415	Leukodystrophy	87178	PNPT1	OMIM:614932
HP:0002415	Leukodystrophy	10535	RNASEH2A	OMIM:610333
HP:0002415	Leukodystrophy	10535	RNASEH2A	ORPHA:51
HP:0002415	Leukodystrophy	84668	HYCC1	OMIM:610532
HP:0002415	Leukodystrophy	25939	SAMHD1	OMIM:612952
HP:0002415	Leukodystrophy	25939	SAMHD1	ORPHA:51
HP:0002415	Leukodystrophy	10382	TUBB4A	OMIM:612438
HP:0002415	Leukodystrophy	84153	RNASEH2C	ORPHA:51
HP:0002415	Leukodystrophy	79621	RNASEH2B	ORPHA:51
HP:0002415	Leukodystrophy	11277	TREX1	ORPHA:51
HP:0002415	Leukodystrophy	100147744	RNU7-1	ORPHA:51
HP:0002415	Leukodystrophy	134353	LSM11	ORPHA:51
HP:0002415	Leukodystrophy	64135	IFIH1	ORPHA:51
HP:0002415	Leukodystrophy	5297	PI4KA	OMIM:619708
HP:0002415	Leukodystrophy	84705	GTPBP3	ORPHA:444013
HP:0002415	Leukodystrophy	9255	AIMP1	OMIM:260600
HP:0002415	Leukodystrophy	5354	PLP1	OMIM:312080
HP:0002415	Leukodystrophy	11128	POLR3A	OMIM:264090
HP:0002415	Leukodystrophy	55157	DARS2	ORPHA:137898
HP:0002415	Leukodystrophy	79152	FA2H	OMIM:612319
HP:0002415	Leukodystrophy	6663	SOX10	OMIM:609136
HP:0002415	Leukodystrophy	84334	COA8	OMIM:619061
HP:0002416	Subependymal cysts	10844	TUBGCP2	OMIM:618737
HP:0002416	Subependymal cysts	728294	D2HGDH	OMIM:600721
HP:0002416	Subependymal cysts	8050	PDHX	OMIM:245349
HP:0002416	Subependymal cysts	2752	GLUL	OMIM:610015
HP:0002416	Subependymal cysts	25828	TXN2	OMIM:616811
HP:0002416	Subependymal cysts	25828	TXN2	ORPHA:478029
HP:0002416	Subependymal cysts	23007	PLCH1	OMIM:619895
HP:0002416	Subependymal cysts	5189	PEX1	OMIM:214100
HP:0002418	Abnormal midbrain morphology	7355	SLC35A2	ORPHA:356961
HP:0002418	Abnormal midbrain morphology	2581	GALC	ORPHA:206448
HP:0002418	Abnormal midbrain morphology	28514	DLL1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2253	FGF8	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6496	SIX3	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	7050	TGIF1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	4838	NODAL	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6469	SHH	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	7546	ZIC2	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6491	STIL	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2619	GAS1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	84976	DISP1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2736	GLI2	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	8928	FOXH1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	5727	PTCH1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	50937	CDON	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	OMIM:619113
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	OMIM:611560
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:619476
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:619479
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:617127
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	OMIM:277170
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	OMIM:614615
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	OMIM:612285
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	OMIM:619111
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	26005	C2CD3	ORPHA:434179
HP:0002418	Abnormal midbrain morphology	26005	C2CD3	OMIM:615948
HP:0002418	Abnormal midbrain morphology	95681	CEP41	OMIM:614464
HP:0002418	Abnormal midbrain morphology	95681	CEP41	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	51524	TMEM138	OMIM:614465
HP:0002418	Abnormal midbrain morphology	51524	TMEM138	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	80184	CEP290	OMIM:610188
HP:0002418	Abnormal midbrain morphology	80184	CEP290	OMIM:611134
HP:0002418	Abnormal midbrain morphology	80184	CEP290	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	OMIM:614424
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	OMIM:608091
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	56623	INPP5E	OMIM:213300
HP:0002418	Abnormal midbrain morphology	56623	INPP5E	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	4867	NPHP1	OMIM:609583
HP:0002418	Abnormal midbrain morphology	4867	NPHP1	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	91147	TMEM67	OMIM:216360
HP:0002418	Abnormal midbrain morphology	91147	TMEM67	OMIM:610688
HP:0002418	Abnormal midbrain morphology	79848	CSPP1	ORPHA:397715
HP:0002418	Abnormal midbrain morphology	9786	KIAA0586	ORPHA:397715
HP:0002418	Abnormal midbrain morphology	9786	KIAA0586	OMIM:616546
HP:0002418	Abnormal midbrain morphology	200894	ARL13B	OMIM:612291
HP:0002418	Abnormal midbrain morphology	219854	TMEM218	OMIM:619562
HP:0002418	Abnormal midbrain morphology	80210	ARMC9	OMIM:617622
HP:0002418	Abnormal midbrain morphology	54806	AHI1	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	54806	AHI1	OMIM:608629
HP:0002418	Abnormal midbrain morphology	153241	CEP120	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	153241	CEP120	OMIM:616300
HP:0002418	Abnormal midbrain morphology	153241	CEP120	OMIM:617761
HP:0002418	Abnormal midbrain morphology	54903	MKS1	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	54903	MKS1	OMIM:617121
HP:0002418	Abnormal midbrain morphology	54903	MKS1	OMIM:249000
HP:0002418	Abnormal midbrain morphology	403	ARL3	OMIM:618161
HP:0002418	Abnormal midbrain morphology	317662	FAM149B1	OMIM:618763
HP:0002418	Abnormal midbrain morphology	317662	FAM149B1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	374654	KIF7	OMIM:614120
HP:0002418	Abnormal midbrain morphology	374654	KIF7	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	374654	KIF7	OMIM:607131
HP:0002418	Abnormal midbrain morphology	374654	KIF7	ORPHA:166024
HP:0002418	Abnormal midbrain morphology	9731	CEP104	OMIM:616781
HP:0002418	Abnormal midbrain morphology	8481	OFD1	OMIM:300804
HP:0002418	Abnormal midbrain morphology	8481	OFD1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	51684	SUFU	OMIM:617757
HP:0002418	Abnormal midbrain morphology	79583	TMEM231	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	79583	TMEM231	OMIM:614970
HP:0002418	Abnormal midbrain morphology	23090	ZNF423	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	10210	TOPORS	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	26123	TCTN3	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	26123	TCTN3	OMIM:614815
HP:0002418	Abnormal midbrain morphology	5147	PDE6D	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	5147	PDE6D	OMIM:615665
HP:0002418	Abnormal midbrain morphology	23116	TOGARAM1	OMIM:619185
HP:0002418	Abnormal midbrain morphology	79600	TCTN1	OMIM:614173
HP:0002418	Abnormal midbrain morphology	27077	B9D1	OMIM:617120
HP:0002418	Abnormal midbrain morphology	80173	IFT74	OMIM:619582
HP:0002418	Abnormal midbrain morphology	84314	TMEM107	OMIM:617563
HP:0002418	Abnormal midbrain morphology	84314	TMEM107	OMIM:617562
HP:0002418	Abnormal midbrain morphology	80776	B9D2	OMIM:614175
HP:0002418	Abnormal midbrain morphology	10464	PIBF1	OMIM:617767
HP:0002418	Abnormal midbrain morphology	55770	EXOC2	OMIM:619306
HP:0002418	Abnormal midbrain morphology	120892	LRRK2	OMIM:607060
HP:0002418	Abnormal midbrain morphology	5071	PRKN	OMIM:600116
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276238
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276244
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276241
HP:0002418	Abnormal midbrain morphology	2747	GLUD2	OMIM:168600
HP:0002418	Abnormal midbrain morphology	126	ADH1C	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4137	MAPT	OMIM:168600
HP:0002418	Abnormal midbrain morphology	2629	GBA1	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4929	NR4A2	OMIM:168600
HP:0002418	Abnormal midbrain morphology	6908	TBP	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4576	MT-TT	OMIM:168600
HP:0002418	Abnormal midbrain morphology	9627	SNCAIP	OMIM:168600
HP:0002418	Abnormal midbrain morphology	6311	ATXN2	OMIM:168600
HP:0002418	Abnormal midbrain morphology	6315	ATXN8OS	OMIM:168600
HP:0002418	Abnormal midbrain morphology	25793	FBXO7	ORPHA:171695
HP:0002418	Abnormal midbrain morphology	6622	SNCA	ORPHA:171695
HP:0002418	Abnormal midbrain morphology	2512	FTL	ORPHA:157846
HP:0002418	Abnormal midbrain morphology	11152	WDR45	ORPHA:329284
HP:0002418	Abnormal midbrain morphology	27072	VPS41	OMIM:619389
HP:0002418	Abnormal midbrain morphology	6905	TBCE	ORPHA:496756
HP:0002418	Abnormal midbrain morphology	23446	SLC44A1	OMIM:618868
HP:0002418	Abnormal midbrain morphology	54676	GTPBP2	OMIM:617988
HP:0002418	Abnormal midbrain morphology	540	ATP7B	OMIM:277900
HP:0002418	Abnormal midbrain morphology	2972	BRF1	OMIM:616202
HP:0002418	Abnormal midbrain morphology	2643	GCH1	ORPHA:98808
HP:0002418	Abnormal midbrain morphology	3615	IMPDH2	ORPHA:98808
HP:0002418	Abnormal midbrain morphology	80208	SPG11	ORPHA:2822
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	OMIM:619113
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	OMIM:611560
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:619476
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:619479
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:617127
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	OMIM:277170
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	OMIM:614615
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	OMIM:612285
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	OMIM:619111
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	26005	C2CD3	ORPHA:434179
HP:0002419	Molar tooth sign on MRI	26005	C2CD3	OMIM:615948
HP:0002419	Molar tooth sign on MRI	95681	CEP41	OMIM:614464
HP:0002419	Molar tooth sign on MRI	95681	CEP41	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	51524	TMEM138	OMIM:614465
HP:0002419	Molar tooth sign on MRI	51524	TMEM138	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	80184	CEP290	OMIM:610188
HP:0002419	Molar tooth sign on MRI	80184	CEP290	OMIM:611134
HP:0002419	Molar tooth sign on MRI	80184	CEP290	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	OMIM:614424
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	OMIM:608091
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	56623	INPP5E	OMIM:213300
HP:0002419	Molar tooth sign on MRI	56623	INPP5E	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	4867	NPHP1	OMIM:609583
HP:0002419	Molar tooth sign on MRI	4867	NPHP1	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	91147	TMEM67	OMIM:216360
HP:0002419	Molar tooth sign on MRI	91147	TMEM67	OMIM:610688
HP:0002419	Molar tooth sign on MRI	79848	CSPP1	ORPHA:397715
HP:0002419	Molar tooth sign on MRI	9786	KIAA0586	ORPHA:397715
HP:0002419	Molar tooth sign on MRI	9786	KIAA0586	OMIM:616546
HP:0002419	Molar tooth sign on MRI	200894	ARL13B	OMIM:612291
HP:0002419	Molar tooth sign on MRI	219854	TMEM218	OMIM:619562
HP:0002419	Molar tooth sign on MRI	80210	ARMC9	OMIM:617622
HP:0002419	Molar tooth sign on MRI	54806	AHI1	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	54806	AHI1	OMIM:608629
HP:0002419	Molar tooth sign on MRI	153241	CEP120	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	153241	CEP120	OMIM:616300
HP:0002419	Molar tooth sign on MRI	153241	CEP120	OMIM:617761
HP:0002419	Molar tooth sign on MRI	54903	MKS1	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	54903	MKS1	OMIM:617121
HP:0002419	Molar tooth sign on MRI	54903	MKS1	OMIM:249000
HP:0002419	Molar tooth sign on MRI	403	ARL3	OMIM:618161
HP:0002419	Molar tooth sign on MRI	317662	FAM149B1	OMIM:618763
HP:0002419	Molar tooth sign on MRI	317662	FAM149B1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	374654	KIF7	OMIM:614120
HP:0002419	Molar tooth sign on MRI	374654	KIF7	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	374654	KIF7	OMIM:607131
HP:0002419	Molar tooth sign on MRI	374654	KIF7	ORPHA:166024
HP:0002419	Molar tooth sign on MRI	9731	CEP104	OMIM:616781
HP:0002419	Molar tooth sign on MRI	8481	OFD1	OMIM:300804
HP:0002419	Molar tooth sign on MRI	8481	OFD1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	51684	SUFU	OMIM:617757
HP:0002419	Molar tooth sign on MRI	79583	TMEM231	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	79583	TMEM231	OMIM:614970
HP:0002419	Molar tooth sign on MRI	23090	ZNF423	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	10210	TOPORS	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	26123	TCTN3	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	26123	TCTN3	OMIM:614815
HP:0002419	Molar tooth sign on MRI	5147	PDE6D	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	5147	PDE6D	OMIM:615665
HP:0002419	Molar tooth sign on MRI	23116	TOGARAM1	OMIM:619185
HP:0002419	Molar tooth sign on MRI	79600	TCTN1	OMIM:614173
HP:0002419	Molar tooth sign on MRI	27077	B9D1	OMIM:617120
HP:0002419	Molar tooth sign on MRI	80173	IFT74	OMIM:619582
HP:0002419	Molar tooth sign on MRI	84314	TMEM107	OMIM:617563
HP:0002419	Molar tooth sign on MRI	84314	TMEM107	OMIM:617562
HP:0002419	Molar tooth sign on MRI	80776	B9D2	OMIM:614175
HP:0002419	Molar tooth sign on MRI	10464	PIBF1	OMIM:617767
HP:0002419	Molar tooth sign on MRI	55770	EXOC2	OMIM:619306
HP:0012630	Abnormal trabecular meshwork morphology	4016	LOXL1	OMIM:177650
HP:0012631	Pigment deposition in the trabecular meshwork	4016	LOXL1	OMIM:177650
HP:0012632	Abnormal intraocular pressure	5309	PITX3	OMIM:107250
HP:0012632	Abnormal intraocular pressure	7837	PXDN	OMIM:269400
HP:0012632	Abnormal intraocular pressure	3105	HLA-A	ORPHA:179
HP:0012632	Abnormal intraocular pressure	7010	TEK	OMIM:617272
HP:0012632	Abnormal intraocular pressure	170691	ADAMTS17	OMIM:613195
HP:0012632	Abnormal intraocular pressure	80781	COL18A1	OMIM:618880
HP:0012632	Abnormal intraocular pressure	113189	CHST14	ORPHA:2953
HP:0012632	Abnormal intraocular pressure	29940	DSE	ORPHA:2953
HP:0012632	Abnormal intraocular pressure	2335	FN1	ORPHA:93315
HP:0012632	Abnormal intraocular pressure	1280	COL2A1	ORPHA:93315
HP:0012632	Abnormal intraocular pressure	4010	LMX1B	ORPHA:2614
HP:0012632	Abnormal intraocular pressure	3166	HMX1	OMIM:612109
HP:0012632	Abnormal intraocular pressure	646960	PRSS56	OMIM:613517
HP:0012632	Abnormal intraocular pressure	8314	BAP1	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	57105	CYSLTR2	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	2776	GNAQ	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	2767	GNA11	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	23451	SF3B1	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	136371	ASB10	OMIM:603383
HP:0012632	Abnormal intraocular pressure	444	ASPH	OMIM:601552
HP:0012632	Abnormal intraocular pressure	4774	NFIA	ORPHA:401986
HP:0012632	Abnormal intraocular pressure	114902	C1QTNF5	ORPHA:67042
HP:0012632	Abnormal intraocular pressure	30813	VSX1	OMIM:614195
HP:0012632	Abnormal intraocular pressure	30813	VSX1	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	1545	CYP1B1	OMIM:231300
HP:0012632	Abnormal intraocular pressure	1545	CYP1B1	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	169792	GLIS3	OMIM:610199
HP:0012632	Abnormal intraocular pressure	2301	FOXE3	OMIM:610256
HP:0012632	Abnormal intraocular pressure	23516	SLC39A14	OMIM:144755
HP:0012632	Abnormal intraocular pressure	2202	EFEMP1	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	4653	MYOC	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	4053	LTBP2	OMIM:614819
HP:0012632	Abnormal intraocular pressure	6935	ZEB1	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	58495	OVOL2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	79977	GRHL2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	1296	COL8A2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	91851	CHRDL1	OMIM:309300
HP:0012632	Abnormal intraocular pressure	4016	LOXL1	OMIM:177650
HP:0012633	Asymmetry of intraocular pressure	5309	PITX3	OMIM:107250
HP:0012633	Asymmetry of intraocular pressure	7837	PXDN	OMIM:269400
HP:0012633	Asymmetry of intraocular pressure	3105	HLA-A	ORPHA:179
HP:0012633	Asymmetry of intraocular pressure	7010	TEK	OMIM:617272
HP:0012633	Asymmetry of intraocular pressure	170691	ADAMTS17	OMIM:613195
HP:0012633	Asymmetry of intraocular pressure	80781	COL18A1	OMIM:618880
HP:0012633	Asymmetry of intraocular pressure	113189	CHST14	ORPHA:2953
HP:0012633	Asymmetry of intraocular pressure	29940	DSE	ORPHA:2953
HP:0012633	Asymmetry of intraocular pressure	2335	FN1	ORPHA:93315
HP:0012633	Asymmetry of intraocular pressure	1280	COL2A1	ORPHA:93315
HP:0012633	Asymmetry of intraocular pressure	4010	LMX1B	ORPHA:2614
HP:0012633	Asymmetry of intraocular pressure	3166	HMX1	OMIM:612109
HP:0012633	Asymmetry of intraocular pressure	646960	PRSS56	OMIM:613517
HP:0012633	Asymmetry of intraocular pressure	8314	BAP1	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	57105	CYSLTR2	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	2776	GNAQ	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	2767	GNA11	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	23451	SF3B1	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	136371	ASB10	OMIM:603383
HP:0012633	Asymmetry of intraocular pressure	444	ASPH	OMIM:601552
HP:0012633	Asymmetry of intraocular pressure	4774	NFIA	ORPHA:401986
HP:0012633	Asymmetry of intraocular pressure	114902	C1QTNF5	ORPHA:67042
HP:0012633	Asymmetry of intraocular pressure	30813	VSX1	OMIM:614195
HP:0012633	Asymmetry of intraocular pressure	30813	VSX1	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	1545	CYP1B1	OMIM:231300
HP:0012633	Asymmetry of intraocular pressure	1545	CYP1B1	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	169792	GLIS3	OMIM:610199
HP:0012633	Asymmetry of intraocular pressure	2301	FOXE3	OMIM:610256
HP:0012633	Asymmetry of intraocular pressure	23516	SLC39A14	OMIM:144755
HP:0012633	Asymmetry of intraocular pressure	2202	EFEMP1	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	4653	MYOC	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	4053	LTBP2	OMIM:614819
HP:0012633	Asymmetry of intraocular pressure	6935	ZEB1	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	58495	OVOL2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	79977	GRHL2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	1296	COL8A2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	4016	LOXL1	OMIM:177650
HP:0012635	Iris hypoperfusion	4016	LOXL1	OMIM:177650
HP:0012636	Retinal vein occlusion	2161	F12	ORPHA:330
HP:0012636	Retinal vein occlusion	4016	LOXL1	OMIM:177650
HP:0012636	Retinal vein occlusion	462	SERPINC1	ORPHA:82
HP:0012636	Retinal vein occlusion	2202	EFEMP1	ORPHA:98977
HP:0012636	Retinal vein occlusion	1545	CYP1B1	ORPHA:98977
HP:0012636	Retinal vein occlusion	4653	MYOC	ORPHA:98977
HP:0012637	Renal calcium wasting	149461	CLDN19	OMIM:248190
HP:0012637	Renal calcium wasting	10686	CLDN16	OMIM:248250
HP:0012637	Renal calcium wasting	55811	ADCY10	ORPHA:2197
HP:0012638	Abnormal nervous system physiology	27019	DNAI1	OMIM:244400
HP:0012638	Abnormal nervous system physiology	6938	TCF12	OMIM:619718
HP:0012638	Abnormal nervous system physiology	4808	NHLH2	OMIM:619755
HP:0012638	Abnormal nervous system physiology	286	ANK1	ORPHA:251066
HP:0012638	Abnormal nervous system physiology	84634	KISS1R	OMIM:614837
HP:0012638	Abnormal nervous system physiology	6866	TAC3	OMIM:614839
HP:0012638	Abnormal nervous system physiology	415	ARSL	OMIM:302950
HP:0012638	Abnormal nervous system physiology	3814	KISS1	OMIM:614842
HP:0012638	Abnormal nervous system physiology	91754	NEK9	OMIM:617022
HP:0012638	Abnormal nervous system physiology	8558	CDK10	OMIM:617694
HP:0012638	Abnormal nervous system physiology	78989	COLEC11	OMIM:265050
HP:0012638	Abnormal nervous system physiology	4617	MYF5	OMIM:618155
HP:0012638	Abnormal nervous system physiology	126792	B3GALT6	ORPHA:536467
HP:0012638	Abnormal nervous system physiology	7042	TGFB2	OMIM:614816
HP:0012638	Abnormal nervous system physiology	778	CACNA1F	OMIM:300476
HP:0012638	Abnormal nervous system physiology	778	CACNA1F	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	7299	TYR	OMIM:203100
HP:0012638	Abnormal nervous system physiology	7299	TYR	OMIM:606952
HP:0012638	Abnormal nervous system physiology	7299	TYR	ORPHA:79431
HP:0012638	Abnormal nervous system physiology	7299	TYR	ORPHA:79434
HP:0012638	Abnormal nervous system physiology	4166	CHST6	ORPHA:98969
HP:0012638	Abnormal nervous system physiology	4166	CHST6	OMIM:217800
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	OMIM:613856
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	4047	LSS	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	197	AHSG	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	3694	ITGB6	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98962
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98964
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98960
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	OMIM:608470
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	OMIM:602082
HP:0012638	Abnormal nervous system physiology	6720	SREBF1	OMIM:158310
HP:0012638	Abnormal nervous system physiology	6720	SREBF1	OMIM:619016
HP:0012638	Abnormal nervous system physiology	54714	CNGB3	OMIM:262300
HP:0012638	Abnormal nervous system physiology	54714	CNGB3	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	54714	CNGB3	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	162	AP1B1	OMIM:242150
HP:0012638	Abnormal nervous system physiology	1638	DCT	OMIM:619165
HP:0012638	Abnormal nervous system physiology	755	CFAP410	OMIM:617547
HP:0012638	Abnormal nervous system physiology	755	CFAP410	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	26504	CNNM4	ORPHA:1873
HP:0012638	Abnormal nervous system physiology	26504	CNNM4	OMIM:217080
HP:0012638	Abnormal nervous system physiology	22926	ATF6	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	22926	ATF6	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	22926	ATF6	OMIM:616517
HP:0012638	Abnormal nervous system physiology	84839	RAX2	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	84839	RAX2	OMIM:610381
HP:0012638	Abnormal nervous system physiology	57096	RPGRIP1	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	57096	RPGRIP1	OMIM:608194
HP:0012638	Abnormal nervous system physiology	57096	RPGRIP1	OMIM:613826
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	OMIM:216900
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	OMIM:303700
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	ORPHA:16
HP:0012638	Abnormal nervous system physiology	8754	ADAM9	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	3000	GUCY2D	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	3000	GUCY2D	OMIM:204000
HP:0012638	Abnormal nervous system physiology	3000	GUCY2D	OMIM:601777
HP:0012638	Abnormal nervous system physiology	22999	RIMS1	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	128338	DRAM2	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	128338	DRAM2	OMIM:616502
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	OMIM:303700
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	ORPHA:16
HP:0012638	Abnormal nervous system physiology	9094	UNC119	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	93589	CACNA2D4	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	93589	CACNA2D4	OMIM:610478
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	OMIM:602093
HP:0012638	Abnormal nervous system physiology	282809	POC1B	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83394	PITPNM3	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83394	PITPNM3	OMIM:600977
HP:0012638	Abnormal nervous system physiology	23093	TTLL5	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83723	TLCD3B	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83723	TLCD3B	OMIM:619531
HP:0012638	Abnormal nervous system physiology	23746	AIPL1	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	9364	RAB28	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	OMIM:613093
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	224	ALDH3A2	ORPHA:816
HP:0012638	Abnormal nervous system physiology	224	ALDH3A2	OMIM:270200
HP:0012638	Abnormal nervous system physiology	169522	KCNV2	OMIM:610356
HP:0012638	Abnormal nervous system physiology	200576	PIKFYVE	OMIM:121850
HP:0012638	Abnormal nervous system physiology	63915	BLOC1S5	OMIM:619172
HP:0012638	Abnormal nervous system physiology	3105	HLA-A	ORPHA:179
HP:0012638	Abnormal nervous system physiology	105371045	PERCC1	ORPHA:92050
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	ORPHA:2273
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	OMIM:308800
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	OMIM:308205
HP:0012638	Abnormal nervous system physiology	283652	SLC24A5	OMIM:113750
HP:0012638	Abnormal nervous system physiology	283652	SLC24A5	ORPHA:370097
HP:0012638	Abnormal nervous system physiology	3850	KRT3	OMIM:618767
HP:0012638	Abnormal nervous system physiology	80326	WNT10A	OMIM:257980
HP:0012638	Abnormal nervous system physiology	80326	WNT10A	OMIM:150400
HP:0012638	Abnormal nervous system physiology	8546	AP3B1	OMIM:608233
HP:0012638	Abnormal nervous system physiology	1420	CRYGC	OMIM:604307
HP:0012638	Abnormal nervous system physiology	4053	LTBP2	OMIM:613086
HP:0012638	Abnormal nervous system physiology	5333	PLCD1	ORPHA:2387
HP:0012638	Abnormal nervous system physiology	1474	CST6	OMIM:618535
HP:0012638	Abnormal nervous system physiology	10804	GJB6	ORPHA:477
HP:0012638	Abnormal nervous system physiology	10804	GJB6	OMIM:129500
HP:0012638	Abnormal nervous system physiology	3769	KCNJ13	OMIM:614186
HP:0012638	Abnormal nervous system physiology	5149	PDE6H	OMIM:610024
HP:0012638	Abnormal nervous system physiology	5149	PDE6H	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	5959	RDH5	ORPHA:52427
HP:0012638	Abnormal nervous system physiology	79803	HPS6	OMIM:614075
HP:0012638	Abnormal nervous system physiology	3859	KRT12	OMIM:122100
HP:0012638	Abnormal nervous system physiology	326	AIRE	ORPHA:3453
HP:0012638	Abnormal nervous system physiology	83938	LRMDA	OMIM:615179
HP:0012638	Abnormal nervous system physiology	84168	ANTXR1	OMIM:230740
HP:0012638	Abnormal nervous system physiology	1634	DCN	OMIM:610048
HP:0012638	Abnormal nervous system physiology	2303	FOXC2	ORPHA:33001
HP:0012638	Abnormal nervous system physiology	2303	FOXC2	OMIM:153400
HP:0012638	Abnormal nervous system physiology	64127	NOD2	ORPHA:90340
HP:0012638	Abnormal nervous system physiology	5429	POLH	ORPHA:90342
HP:0012638	Abnormal nervous system physiology	5429	POLH	OMIM:278750
HP:0012638	Abnormal nervous system physiology	4935	GPR143	ORPHA:54
HP:0012638	Abnormal nervous system physiology	4935	GPR143	OMIM:300500
HP:0012638	Abnormal nervous system physiology	58495	OVOL2	OMIM:122000
HP:0012638	Abnormal nervous system physiology	58495	OVOL2	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	6935	ZEB1	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	30813	VSX1	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	1296	COL8A2	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	51151	SLC45A2	ORPHA:79435
HP:0012638	Abnormal nervous system physiology	55630	SLC39A4	ORPHA:37
HP:0012638	Abnormal nervous system physiology	167691	LCA5	ORPHA:364055
HP:0012638	Abnormal nervous system physiology	114902	C1QTNF5	ORPHA:67042
HP:0012638	Abnormal nervous system physiology	83552	MFRP	OMIM:611040
HP:0012638	Abnormal nervous system physiology	22861	NLRP1	OMIM:617388
HP:0012638	Abnormal nervous system physiology	2784	GNB3	OMIM:617024
HP:0012638	Abnormal nervous system physiology	84816	RTN4IP1	OMIM:616732
HP:0012638	Abnormal nervous system physiology	11190	CEP250	OMIM:618358
HP:0012638	Abnormal nervous system physiology	611	OPN1SW	ORPHA:88629
HP:0012638	Abnormal nervous system physiology	6768	ST14	OMIM:602400
HP:0012638	Abnormal nervous system physiology	6898	TAT	ORPHA:28378
HP:0012638	Abnormal nervous system physiology	2202	EFEMP1	ORPHA:75376
HP:0012638	Abnormal nervous system physiology	3426	CFI	ORPHA:75376
HP:0012638	Abnormal nervous system physiology	388531	RGS9BP	ORPHA:75374
HP:0012638	Abnormal nervous system physiology	8787	RGS9	ORPHA:75374
HP:0012638	Abnormal nervous system physiology	4070	TACSTD2	OMIM:204870
HP:0012638	Abnormal nervous system physiology	3257	HPS1	OMIM:203300
HP:0012638	Abnormal nervous system physiology	1308	COL17A1	ORPHA:293381
HP:0012638	Abnormal nervous system physiology	1308	COL17A1	OMIM:122400
HP:0012638	Abnormal nervous system physiology	10383	TUBB4B	OMIM:617879
HP:0012638	Abnormal nervous system physiology	23155	CLCC1	OMIM:609913
HP:0012638	Abnormal nervous system physiology	9699	RIMS2	OMIM:618970
HP:0012638	Abnormal nervous system physiology	3852	KRT5	ORPHA:79396
HP:0012638	Abnormal nervous system physiology	3861	KRT14	ORPHA:79396
HP:0012638	Abnormal nervous system physiology	1816	DRD5	OMIM:606798
HP:0012638	Abnormal nervous system physiology	84172	POLR1B	ORPHA:861
HP:0012638	Abnormal nervous system physiology	9533	POLR1C	ORPHA:861
HP:0012638	Abnormal nervous system physiology	51082	POLR1D	ORPHA:861
HP:0012638	Abnormal nervous system physiology	6949	TCOF1	ORPHA:861
HP:0012638	Abnormal nervous system physiology	23028	KDM1A	OMIM:616728
HP:0012638	Abnormal nervous system physiology	23028	KDM1A	ORPHA:477993
HP:0012638	Abnormal nervous system physiology	80173	IFT74	OMIM:619582
HP:0012638	Abnormal nervous system physiology	51524	TMEM138	OMIM:614465
HP:0012638	Abnormal nervous system physiology	2289	FKBP5	OMIM:608516
HP:0012638	Abnormal nervous system physiology	1471	CST3	OMIM:105150
HP:0012638	Abnormal nervous system physiology	23414	ZFPM2	OMIM:616067
HP:0012638	Abnormal nervous system physiology	3043	HBB	ORPHA:231214
HP:0012638	Abnormal nervous system physiology	3043	HBB	ORPHA:231226
HP:0012638	Abnormal nervous system physiology	2947	GSTM3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	1084	CEACAM3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	6556	SLC11A1	ORPHA:586
HP:0012638	Abnormal nervous system physiology	51164	DCTN4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	3783	KCNN4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	4282	MIF	ORPHA:586
HP:0012638	Abnormal nervous system physiology	6550	SLC9A3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	115019	SLC26A9	ORPHA:586
HP:0012638	Abnormal nervous system physiology	11254	SLC6A14	ORPHA:586
HP:0012638	Abnormal nervous system physiology	5265	SERPINA1	ORPHA:586
HP:0012638	Abnormal nervous system physiology	1080	CFTR	ORPHA:586
HP:0012638	Abnormal nervous system physiology	22802	CLCA4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	4680	CEACAM6	ORPHA:586
HP:0012638	Abnormal nervous system physiology	10046	MAMLD1	ORPHA:95706
HP:0012638	Abnormal nervous system physiology	4091	SMAD6	OMIM:617439
HP:0012638	Abnormal nervous system physiology	695	BTK	OMIM:300755
HP:0012638	Abnormal nervous system physiology	340990	OTOG	OMIM:614945
HP:0012638	Abnormal nervous system physiology	89891	DYNC2I2	OMIM:615633
HP:0012638	Abnormal nervous system physiology	25981	DNAH1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	115948	ODAD3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54768	HYDIN	ORPHA:244
HP:0012638	Abnormal nervous system physiology	352909	DNAAF3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	27148	STK36	ORPHA:244
HP:0012638	Abnormal nervous system physiology	51314	NME8	ORPHA:244
HP:0012638	Abnormal nervous system physiology	92749	DRC1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54970	TTC12	ORPHA:244
HP:0012638	Abnormal nervous system physiology	152110	NEK10	ORPHA:244
HP:0012638	Abnormal nervous system physiology	2302	FOXJ1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	221421	RSPH9	ORPHA:244
HP:0012638	Abnormal nervous system physiology	85478	CCDC65	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55036	CCDC40	ORPHA:244
HP:0012638	Abnormal nervous system physiology	51364	ZMYND10	ORPHA:244
HP:0012638	Abnormal nervous system physiology	64446	DNAI2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	6674	SPAG1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83544	DNAL1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	89765	RSPH1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83538	ODAD4	ORPHA:244
HP:0012638	Abnormal nervous system physiology	200373	CFAP221	ORPHA:244
HP:0012638	Abnormal nervous system physiology	374407	DNAJB13	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55172	DNAAF2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	2622	GAS8	ORPHA:244
HP:0012638	Abnormal nervous system physiology	23639	DNAAF11	ORPHA:244
HP:0012638	Abnormal nervous system physiology	345895	RSPH4A	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54919	DNAAF5	ORPHA:244
HP:0012638	Abnormal nervous system physiology	388389	CCDC103	ORPHA:244
HP:0012638	Abnormal nervous system physiology	93233	ODAD1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55130	ODAD2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	1767	DNAH5	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83861	RSPH3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	345643	MCIDAS	ORPHA:244
HP:0012638	Abnormal nervous system physiology	56683	CFAP298	ORPHA:244
HP:0012638	Abnormal nervous system physiology	79925	SPEF2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	10309	CCNO	ORPHA:244
HP:0012638	Abnormal nervous system physiology	115399	LRRC56	ORPHA:244
HP:0012638	Abnormal nervous system physiology	139212	DNAAF6	ORPHA:244
HP:0012638	Abnormal nervous system physiology	123872	DNAAF1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	85016	CFAP300	ORPHA:244
HP:0012638	Abnormal nervous system physiology	339829	CCDC39	ORPHA:244
HP:0012638	Abnormal nervous system physiology	8701	DNAH11	ORPHA:244
HP:0012638	Abnormal nervous system physiology	1770	DNAH9	ORPHA:244
HP:0012638	Abnormal nervous system physiology	246176	GAS2L2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	64858	DCLRE1B	OMIM:620133
HP:0012638	Abnormal nervous system physiology	286262	TPRN	OMIM:613307
HP:0012638	Abnormal nervous system physiology	27152	INTU	OMIM:617926
HP:0012638	Abnormal nervous system physiology	10484	SEC23A	ORPHA:50814
HP:0012638	Abnormal nervous system physiology	9639	ARHGEF10	OMIM:608236
HP:0012638	Abnormal nervous system physiology	4054	LTBP3	ORPHA:969
HP:0012638	Abnormal nervous system physiology	54539	NDUFB11	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	51103	NDUFAF1	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	51300	TIMMDC1	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4716	NDUFB10	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	284184	NDUFAF8	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4726	NDUFS6	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	126328	NDUFA11	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4709	NDUFB3	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4715	NDUFB9	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	80222	TARS2	OMIM:615918
HP:0012638	Abnormal nervous system physiology	4718	NDUFC2	OMIM:619170
HP:0012638	Abnormal nervous system physiology	223117	SEMA3D	ORPHA:388
HP:0012638	Abnormal nervous system physiology	10512	SEMA3C	ORPHA:388
HP:0012638	Abnormal nervous system physiology	4902	NRTN	ORPHA:388
HP:0012638	Abnormal nervous system physiology	4323	MMP14	ORPHA:371428
HP:0012638	Abnormal nervous system physiology	5500	PPP1CB	ORPHA:2701
HP:0012638	Abnormal nervous system physiology	23512	SUZ12	OMIM:618786
HP:0012638	Abnormal nervous system physiology	23512	SUZ12	ORPHA:3447
HP:0012638	Abnormal nervous system physiology	6654	SOS1	OMIM:135300
HP:0012638	Abnormal nervous system physiology	6654	SOS1	OMIM:610733
HP:0012638	Abnormal nervous system physiology	27125	AFF4	ORPHA:444077
HP:0012638	Abnormal nervous system physiology	27125	AFF4	OMIM:616368
HP:0012638	Abnormal nervous system physiology	2707	GJB3	ORPHA:317
HP:0012638	Abnormal nervous system physiology	2531	KDSR	ORPHA:317
HP:0012638	Abnormal nervous system physiology	127534	GJB4	ORPHA:317
HP:0012638	Abnormal nervous system physiology	1174	AP1S1	ORPHA:171851
HP:0012638	Abnormal nervous system physiology	1174	AP1S1	OMIM:609313
HP:0012638	Abnormal nervous system physiology	79631	EFL1	ORPHA:811
HP:0012638	Abnormal nervous system physiology	10555	AGPAT2	OMIM:608594
HP:0012638	Abnormal nervous system physiology	10555	AGPAT2	ORPHA:528
HP:0012638	Abnormal nervous system physiology	83879	CDCA7	OMIM:616910
HP:0012638	Abnormal nervous system physiology	83879	CDCA7	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	64327	LMBR1	ORPHA:2378
HP:0012638	Abnormal nervous system physiology	6473	SHOX	OMIM:249700
HP:0012638	Abnormal nervous system physiology	8092	ALX1	OMIM:613456
HP:0012638	Abnormal nervous system physiology	8092	ALX1	ORPHA:306542
HP:0012638	Abnormal nervous system physiology	10413	YAP1	ORPHA:1473
HP:0012638	Abnormal nervous system physiology	10413	YAP1	OMIM:120433
HP:0012638	Abnormal nervous system physiology	7200	TRH	OMIM:275120
HP:0012638	Abnormal nervous system physiology	134701	RIPPLY2	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	10683	DLL3	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	3955	LFNG	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	84667	HES7	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	145873	MESP2	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	197131	UBR1	ORPHA:2315
HP:0012638	Abnormal nervous system physiology	197131	UBR1	OMIM:243800
HP:0012638	Abnormal nervous system physiology	1836	SLC26A2	OMIM:222600
HP:0012638	Abnormal nervous system physiology	9076	CLDN1	OMIM:607626
HP:0012638	Abnormal nervous system physiology	387	RHOA	OMIM:618727
HP:0012638	Abnormal nervous system physiology	83452	RAB33B	OMIM:615222
HP:0012638	Abnormal nervous system physiology	7545	ZIC1	OMIM:618736
HP:0012638	Abnormal nervous system physiology	7545	ZIC1	ORPHA:35099
HP:0012638	Abnormal nervous system physiology	1460	CSNK2B	OMIM:618732
HP:0012638	Abnormal nervous system physiology	8294	H4C9	OMIM:619951
HP:0012638	Abnormal nervous system physiology	1947	EFNB1	ORPHA:1520
HP:0012638	Abnormal nervous system physiology	1947	EFNB1	OMIM:304110
HP:0012638	Abnormal nervous system physiology	114803	MYSM1	ORPHA:508542
HP:0012638	Abnormal nervous system physiology	10584	COLEC10	OMIM:248340
HP:0012638	Abnormal nervous system physiology	10584	COLEC10	ORPHA:293843
HP:0012638	Abnormal nervous system physiology	55109	AGGF1	ORPHA:90308
HP:0012638	Abnormal nervous system physiology	64359	NXN	ORPHA:1507
HP:0012638	Abnormal nervous system physiology	4920	ROR2	ORPHA:1507
HP:0012638	Abnormal nervous system physiology	4920	ROR2	OMIM:268310
HP:0012638	Abnormal nervous system physiology	5567	PRKACB	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2735	GLI1	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2121	EVC	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2121	EVC	OMIM:225500
HP:0012638	Abnormal nervous system physiology	51626	DYNC2LI1	ORPHA:289
HP:0012638	Abnormal nervous system physiology	132884	EVC2	ORPHA:289
HP:0012638	Abnormal nervous system physiology	132884	EVC2	OMIM:225500
HP:0012638	Abnormal nervous system physiology	55714	TENM3	OMIM:615145
HP:0012638	Abnormal nervous system physiology	3476	IGBP1	ORPHA:52055
HP:0012638	Abnormal nervous system physiology	3476	IGBP1	OMIM:300472
HP:0012638	Abnormal nervous system physiology	153201	SLC36A2	OMIM:242600
HP:0012638	Abnormal nervous system physiology	23189	KANK1	OMIM:612900
HP:0012638	Abnormal nervous system physiology	7555	CNBP	OMIM:602668
HP:0012638	Abnormal nervous system physiology	79048	SECISBP2	ORPHA:171706
HP:0012638	Abnormal nervous system physiology	164656	TMPRSS6	ORPHA:209981
HP:0012638	Abnormal nervous system physiology	9820	CUL7	OMIM:273750
HP:0012638	Abnormal nervous system physiology	80324	PUS1	OMIM:600462
HP:0012638	Abnormal nervous system physiology	80324	PUS1	ORPHA:2598
HP:0012638	Abnormal nervous system physiology	51715	RAB23	ORPHA:65759
HP:0012638	Abnormal nervous system physiology	51715	RAB23	OMIM:201000
HP:0012638	Abnormal nervous system physiology	79005	SCNM1	OMIM:620107
HP:0012638	Abnormal nervous system physiology	6566	SLC16A1	OMIM:616095
HP:0012638	Abnormal nervous system physiology	341640	FREM2	ORPHA:2052
HP:0012638	Abnormal nervous system physiology	23426	GRIP1	ORPHA:2052
HP:0012638	Abnormal nervous system physiology	10262	SF3B4	OMIM:154400
HP:0012638	Abnormal nervous system physiology	1299	COL9A3	OMIM:620022
HP:0012638	Abnormal nervous system physiology	4035	LRP1	OMIM:604093
HP:0012638	Abnormal nervous system physiology	64220	STRA6	ORPHA:2470
HP:0012638	Abnormal nervous system physiology	5915	RARB	ORPHA:2470
HP:0012638	Abnormal nervous system physiology	5915	RARB	OMIM:615524
HP:0012638	Abnormal nervous system physiology	8195	MKKS	ORPHA:2473
HP:0012638	Abnormal nervous system physiology	8195	MKKS	ORPHA:110
HP:0012638	Abnormal nervous system physiology	8195	MKKS	OMIM:605231
HP:0012638	Abnormal nervous system physiology	79791	FBXO31	OMIM:615979
HP:0012638	Abnormal nervous system physiology	55212	BBS7	OMIM:615984
HP:0012638	Abnormal nervous system physiology	55212	BBS7	ORPHA:110
HP:0012638	Abnormal nervous system physiology	585	BBS4	OMIM:615982
HP:0012638	Abnormal nervous system physiology	585	BBS4	ORPHA:110
HP:0012638	Abnormal nervous system physiology	92482	BBIP1	OMIM:615995
HP:0012638	Abnormal nervous system physiology	92482	BBIP1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	91179	SCARF2	OMIM:600920
HP:0012638	Abnormal nervous system physiology	5925	RB1	ORPHA:1587
HP:0012638	Abnormal nervous system physiology	29940	DSE	OMIM:615539
HP:0012638	Abnormal nervous system physiology	23233	EXOC6B	ORPHA:93359
HP:0012638	Abnormal nervous system physiology	1663	DDX11	OMIM:613398
HP:0012638	Abnormal nervous system physiology	10082	GPC6	ORPHA:93329
HP:0012638	Abnormal nervous system physiology	406932	MIR140	OMIM:618618
HP:0012638	Abnormal nervous system physiology	64412	GZF1	OMIM:617662
HP:0012638	Abnormal nervous system physiology	3149	HMGB3	OMIM:300915
HP:0012638	Abnormal nervous system physiology	51057	WDPCP	ORPHA:110
HP:0012638	Abnormal nervous system physiology	84984	CEP19	ORPHA:110
HP:0012638	Abnormal nervous system physiology	84984	CEP19	OMIM:615703
HP:0012638	Abnormal nervous system physiology	83479	DDX59	ORPHA:2919
HP:0012638	Abnormal nervous system physiology	83479	DDX59	OMIM:174300
HP:0012638	Abnormal nervous system physiology	1749	DLX5	OMIM:183600
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	OMIM:190350
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	OMIM:190351
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	ORPHA:502
HP:0012638	Abnormal nervous system physiology	7046	TGFBR1	OMIM:609192
HP:0012638	Abnormal nervous system physiology	8473	OGT	OMIM:300997
HP:0012638	Abnormal nervous system physiology	3039	HBA1	ORPHA:98791
HP:0012638	Abnormal nervous system physiology	3040	HBA2	ORPHA:98791
HP:0012638	Abnormal nervous system physiology	27341	RRP7A	OMIM:619453
HP:0012638	Abnormal nervous system physiology	5077	PAX3	OMIM:148820
HP:0012638	Abnormal nervous system physiology	5077	PAX3	ORPHA:896
HP:0012638	Abnormal nervous system physiology	55651	NHP2	OMIM:224230
HP:0012638	Abnormal nervous system physiology	55651	NHP2	OMIM:613987
HP:0012638	Abnormal nervous system physiology	55505	NOP10	OMIM:224230
HP:0012638	Abnormal nervous system physiology	2317	FLNB	ORPHA:503
HP:0012638	Abnormal nervous system physiology	2317	FLNB	OMIM:150250
HP:0012638	Abnormal nervous system physiology	407975	MIR17HG	ORPHA:391646
HP:0012638	Abnormal nervous system physiology	80267	EDEM3	OMIM:619493
HP:0012638	Abnormal nervous system physiology	10491	CRTAP	OMIM:610682
HP:0012638	Abnormal nervous system physiology	5468	PPARG	ORPHA:528
HP:0012638	Abnormal nervous system physiology	2353	FOS	ORPHA:528
HP:0012638	Abnormal nervous system physiology	79023	NUP37	OMIM:618179
HP:0012638	Abnormal nervous system physiology	118429	ANTXR2	OMIM:228600
HP:0012638	Abnormal nervous system physiology	57539	WDR35	OMIM:613610
HP:0012638	Abnormal nervous system physiology	633	BGN	OMIM:300106
HP:0012638	Abnormal nervous system physiology	51134	CEP83	OMIM:615862
HP:0012638	Abnormal nervous system physiology	8216	LZTR1	OMIM:605275
HP:0012638	Abnormal nervous system physiology	55764	IFT122	OMIM:218330
HP:0012638	Abnormal nervous system physiology	84061	MAGT1	OMIM:301031
HP:0012638	Abnormal nervous system physiology	117581	TWIST2	OMIM:209885
HP:0012638	Abnormal nervous system physiology	114928	GPRASP2	OMIM:301018
HP:0012638	Abnormal nervous system physiology	1804	DPP6	OMIM:616311
HP:0012638	Abnormal nervous system physiology	6016	RIT1	OMIM:615355
HP:0012638	Abnormal nervous system physiology	3008	H1-4	OMIM:617537
HP:0012638	Abnormal nervous system physiology	3891	KRT85	OMIM:602032
HP:0012638	Abnormal nervous system physiology	4853	NOTCH2	OMIM:102500
HP:0012638	Abnormal nervous system physiology	23761	PISD	OMIM:618889
HP:0012638	Abnormal nervous system physiology	514	ATP5F1E	OMIM:614053
HP:0012638	Abnormal nervous system physiology	64132	XYLT2	ORPHA:85194
HP:0012638	Abnormal nervous system physiology	1789	DNMT3B	OMIM:242860
HP:0012638	Abnormal nervous system physiology	1789	DNMT3B	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	145258	GSC	OMIM:602471
HP:0012638	Abnormal nervous system physiology	4351	MPI	ORPHA:79319
HP:0012638	Abnormal nervous system physiology	257	ALX3	OMIM:136760
HP:0012638	Abnormal nervous system physiology	79882	ZC3H14	OMIM:617125
HP:0012638	Abnormal nervous system physiology	2628	GATM	OMIM:612718
HP:0012638	Abnormal nervous system physiology	4882	NPR2	OMIM:602875
HP:0012638	Abnormal nervous system physiology	23118	TAB2	ORPHA:228410
HP:0012638	Abnormal nervous system physiology	8443	GNPAT	OMIM:222765
HP:0012638	Abnormal nervous system physiology	7102	TSPAN7	OMIM:300210
HP:0012638	Abnormal nervous system physiology	649	BMP1	OMIM:614856
HP:0012638	Abnormal nervous system physiology	197257	LDHD	OMIM:245450
HP:0012638	Abnormal nervous system physiology	6628	SNRPB	ORPHA:1393
HP:0012638	Abnormal nervous system physiology	6628	SNRPB	OMIM:117650
HP:0012638	Abnormal nervous system physiology	5295	PIK3R1	OMIM:269880
HP:0012638	Abnormal nervous system physiology	8671	SLC4A4	OMIM:604278
HP:0012638	Abnormal nervous system physiology	3549	IHH	OMIM:607778
HP:0012638	Abnormal nervous system physiology	338917	VSX2	OMIM:610093
HP:0012638	Abnormal nervous system physiology	6505	SLC1A1	OMIM:222730
HP:0012638	Abnormal nervous system physiology	2582	GALE	OMIM:230350
HP:0012638	Abnormal nervous system physiology	3909	LAMA3	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	3918	LAMC2	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	3914	LAMB3	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	396	ARHGDIA	OMIM:615244
HP:0012638	Abnormal nervous system physiology	5476	CTSA	ORPHA:351
HP:0012638	Abnormal nervous system physiology	5476	CTSA	OMIM:256540
HP:0012638	Abnormal nervous system physiology	9636	ISG15	OMIM:616126
HP:0012638	Abnormal nervous system physiology	5604	MAP2K1	OMIM:615279
HP:0012638	Abnormal nervous system physiology	1742	DLG4	OMIM:618793
HP:0012638	Abnormal nervous system physiology	57609	DIP2B	OMIM:136630
HP:0012638	Abnormal nervous system physiology	23483	TGDS	OMIM:616145
HP:0012638	Abnormal nervous system physiology	4087	SMAD2	OMIM:619657
HP:0012638	Abnormal nervous system physiology	5426	POLE	OMIM:618336
HP:0012638	Abnormal nervous system physiology	56945	MRPS22	OMIM:611719
HP:0012638	Abnormal nervous system physiology	346171	ZFP57	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	801	CALM1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3753	KCNE1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3753	KCNE1	ORPHA:90647
HP:0012638	Abnormal nervous system physiology	805	CALM2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	805	CALM2	OMIM:616249
HP:0012638	Abnormal nervous system physiology	6910	TBX5	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6336	SCN10A	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6336	SCN10A	ORPHA:46348
HP:0012638	Abnormal nervous system physiology	3757	KCNH2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	9992	KCNE2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	10142	AKAP9	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	9722	NOS1AP	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3784	KCNQ1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3784	KCNQ1	ORPHA:90647
HP:0012638	Abnormal nervous system physiology	10345	TRDN	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	10345	TRDN	OMIM:604772
HP:0012638	Abnormal nervous system physiology	6330	SCN4B	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	808	CALM3	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6640	SNTA1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	287	ANK2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	486	FXYD2	OMIM:154020
HP:0012638	Abnormal nervous system physiology	8883	NAE1	OMIM:620210
HP:0012638	Abnormal nervous system physiology	55640	FLVCR2	OMIM:225790
HP:0012638	Abnormal nervous system physiology	201595	STT3B	ORPHA:370924
HP:0012638	Abnormal nervous system physiology	201595	STT3B	OMIM:615597
HP:0012638	Abnormal nervous system physiology	6748	SSR4	ORPHA:370927
HP:0012638	Abnormal nervous system physiology	6748	SSR4	OMIM:300934
HP:0012638	Abnormal nervous system physiology	7066	THPO	ORPHA:71493
HP:0012638	Abnormal nervous system physiology	356	FASLG	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	5580	PRKCD	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	843	CASP10	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	10125	RASGRP1	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	5296	PIK3R2	ORPHA:83473
HP:0012638	Abnormal nervous system physiology	5296	PIK3R2	OMIM:603387
HP:0012638	Abnormal nervous system physiology	80144	FRAS1	OMIM:219000
HP:0012638	Abnormal nervous system physiology	429	ASCL1	ORPHA:99803
HP:0012638	Abnormal nervous system physiology	26153	KIF26A	OMIM:620156
HP:0012638	Abnormal nervous system physiology	58528	RRAGD	OMIM:620152
HP:0012638	Abnormal nervous system physiology	55858	TMEM165	OMIM:614727
HP:0012638	Abnormal nervous system physiology	9184	BUB3	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	699	BUB1	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	9319	TRIP13	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	9319	TRIP13	OMIM:617598
HP:0012638	Abnormal nervous system physiology	55148	UBR7	OMIM:619189
HP:0012638	Abnormal nervous system physiology	343035	RD3	ORPHA:65
HP:0012638	Abnormal nervous system physiology	85015	USP45	ORPHA:65
HP:0012638	Abnormal nervous system physiology	5130	PCYT1A	ORPHA:65
HP:0012638	Abnormal nervous system physiology	9657	IQCB1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	6091	ROBO1	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	23432	GPR161	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	1013	CDH15	OMIM:612580
HP:0012638	Abnormal nervous system physiology	147372	CCBE1	OMIM:235510
HP:0012638	Abnormal nervous system physiology	147372	CCBE1	ORPHA:2136
HP:0012638	Abnormal nervous system physiology	50943	FOXP3	OMIM:304790
HP:0012638	Abnormal nervous system physiology	23090	ZNF423	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	3661	IRF3	OMIM:616532
HP:0012638	Abnormal nervous system physiology	2212	FCGR2A	OMIM:152700
HP:0012638	Abnormal nervous system physiology	2213	FCGR2B	OMIM:152700
HP:0012638	Abnormal nervous system physiology	1773	DNASE1	OMIM:152700
HP:0012638	Abnormal nervous system physiology	55627	SMPD4	OMIM:618622
HP:0012638	Abnormal nervous system physiology	23417	MLYCD	OMIM:248360
HP:0012638	Abnormal nervous system physiology	6855	SYP	OMIM:300802
HP:0012638	Abnormal nervous system physiology	131405	TRIM71	OMIM:618667
HP:0012638	Abnormal nervous system physiology	8676	STX11	OMIM:603552
HP:0012638	Abnormal nervous system physiology	8676	STX11	ORPHA:540
HP:0012638	Abnormal nervous system physiology	2157	F8	ORPHA:169805
HP:0012638	Abnormal nervous system physiology	79705	LRRK1	OMIM:615198
HP:0012638	Abnormal nervous system physiology	2627	GATA6	OMIM:600001
HP:0012638	Abnormal nervous system physiology	2627	GATA6	ORPHA:2255
HP:0012638	Abnormal nervous system physiology	162514	TRPV3	ORPHA:659
HP:0012638	Abnormal nervous system physiology	64065	PERP	ORPHA:659
HP:0012638	Abnormal nervous system physiology	51095	TRNT1	OMIM:616084
HP:0012638	Abnormal nervous system physiology	4488	MSX2	OMIM:168500
HP:0012638	Abnormal nervous system physiology	4488	MSX2	ORPHA:60015
HP:0012638	Abnormal nervous system physiology	4488	MSX2	OMIM:604757
HP:0012638	Abnormal nervous system physiology	11005	SPINK5	ORPHA:634
HP:0012638	Abnormal nervous system physiology	375	ARF1	OMIM:618185
HP:0012638	Abnormal nervous system physiology	10015	PDCD6IP	OMIM:620047
HP:0012638	Abnormal nervous system physiology	5091	PC	OMIM:266150
HP:0012638	Abnormal nervous system physiology	92002	CCNQ	ORPHA:140952
HP:0012638	Abnormal nervous system physiology	5591	PRKDC	OMIM:615966
HP:0012638	Abnormal nervous system physiology	84317	CCDC115	OMIM:616828
HP:0012638	Abnormal nervous system physiology	54413	NLGN3	OMIM:300425
HP:0012638	Abnormal nervous system physiology	51004	COQ6	OMIM:614650
HP:0012638	Abnormal nervous system physiology	80781	COL18A1	ORPHA:1571
HP:0012638	Abnormal nervous system physiology	80781	COL18A1	OMIM:267750
HP:0012638	Abnormal nervous system physiology	5062	PAK2	ORPHA:1571
HP:0012638	Abnormal nervous system physiology	5062	PAK2	OMIM:618458
HP:0012638	Abnormal nervous system physiology	3835	KIF22	ORPHA:93360
HP:0012638	Abnormal nervous system physiology	2464	FRA16E	OMIM:136570
HP:0012638	Abnormal nervous system physiology	3590	IL11RA	OMIM:614188
HP:0012638	Abnormal nervous system physiology	6262	RYR2	OMIM:604772
HP:0012638	Abnormal nervous system physiology	845	CASQ2	OMIM:604772
HP:0012638	Abnormal nervous system physiology	845	CASQ2	OMIM:611938
HP:0012638	Abnormal nervous system physiology	56098	PCDHGC4	OMIM:619880
HP:0012638	Abnormal nervous system physiology	27068	PPA2	OMIM:617222
HP:0012638	Abnormal nervous system physiology	4285	MIPEP	OMIM:617228
HP:0012638	Abnormal nervous system physiology	3773	KCNJ16	OMIM:619406
HP:0012638	Abnormal nervous system physiology	286204	CRB2	OMIM:219730
HP:0012638	Abnormal nervous system physiology	205327	C2orf69	OMIM:619423
HP:0012638	Abnormal nervous system physiology	4126	MANBA	ORPHA:118
HP:0012638	Abnormal nervous system physiology	4126	MANBA	OMIM:248510
HP:0012638	Abnormal nervous system physiology	201294	UNC13D	ORPHA:540
HP:0012638	Abnormal nervous system physiology	6813	STXBP2	ORPHA:540
HP:0012638	Abnormal nervous system physiology	6557	SLC12A1	OMIM:601678
HP:0012638	Abnormal nervous system physiology	7161	TP73	OMIM:619466
HP:0012638	Abnormal nervous system physiology	348180	CTU2	OMIM:618142
HP:0012638	Abnormal nervous system physiology	2222	FDFT1	OMIM:618156
HP:0012638	Abnormal nervous system physiology	3090	HIC1	ORPHA:531
HP:0012638	Abnormal nervous system physiology	7531	YWHAE	ORPHA:531
HP:0012638	Abnormal nervous system physiology	63899	NSUN3	OMIM:619012
HP:0012638	Abnormal nervous system physiology	9693	RAPGEF2	OMIM:618075
HP:0012638	Abnormal nervous system physiology	63916	ELMO2	ORPHA:3019
HP:0012638	Abnormal nervous system physiology	10225	CD96	OMIM:211750
HP:0012638	Abnormal nervous system physiology	10225	CD96	ORPHA:1308
HP:0012638	Abnormal nervous system physiology	5624	PROC	OMIM:612304
HP:0012638	Abnormal nervous system physiology	4036	LRP2	ORPHA:2143
HP:0012638	Abnormal nervous system physiology	4036	LRP2	OMIM:222448
HP:0012638	Abnormal nervous system physiology	3782	KCNN3	ORPHA:3473
HP:0012638	Abnormal nervous system physiology	5627	PROS1	OMIM:614514
HP:0012638	Abnormal nervous system physiology	59	ACTA2	ORPHA:2573
HP:0012638	Abnormal nervous system physiology	57674	RNF213	ORPHA:2573
HP:0012638	Abnormal nervous system physiology	55593	OTUD5	OMIM:301056
HP:0012638	Abnormal nervous system physiology	3796	KIF2A	OMIM:615411
HP:0012638	Abnormal nervous system physiology	10616	RBCK1	OMIM:615895
HP:0012638	Abnormal nervous system physiology	9343	EFTUD2	ORPHA:79113
HP:0012638	Abnormal nervous system physiology	9343	EFTUD2	OMIM:610536
HP:0012638	Abnormal nervous system physiology	51520	LARS1	OMIM:615438
HP:0012638	Abnormal nervous system physiology	26503	SLC17A5	OMIM:604369
HP:0012638	Abnormal nervous system physiology	26503	SLC17A5	OMIM:269920
HP:0012638	Abnormal nervous system physiology	8192	CLPP	OMIM:614129
HP:0012638	Abnormal nervous system physiology	85378	TUBGCP6	ORPHA:2518
HP:0012638	Abnormal nervous system physiology	85378	TUBGCP6	OMIM:251270
HP:0012638	Abnormal nervous system physiology	27229	TUBGCP4	ORPHA:2518
HP:0012638	Abnormal nervous system physiology	79776	ZFHX4	ORPHA:91411
HP:0012638	Abnormal nervous system physiology	249	ALPL	OMIM:241500
HP:0012638	Abnormal nervous system physiology	249	ALPL	OMIM:241510
HP:0012638	Abnormal nervous system physiology	10026	PIGK	OMIM:618879
HP:0012638	Abnormal nervous system physiology	375387	NRROS	OMIM:618875
HP:0012638	Abnormal nervous system physiology	140803	TRPM6	OMIM:602014
HP:0012638	Abnormal nervous system physiology	8364	H4C3	OMIM:619758
HP:0012638	Abnormal nervous system physiology	79053	ALG8	ORPHA:79325
HP:0012638	Abnormal nervous system physiology	4942	OAT	ORPHA:414
HP:0012638	Abnormal nervous system physiology	1725	DHPS	OMIM:618480
HP:0012638	Abnormal nervous system physiology	3198	HOXA1	OMIM:601536
HP:0012638	Abnormal nervous system physiology	51371	POMP	OMIM:618048
HP:0012638	Abnormal nervous system physiology	10295	BCKDK	OMIM:614923
HP:0012638	Abnormal nervous system physiology	22897	CEP164	OMIM:614845
HP:0012638	Abnormal nervous system physiology	9095	TBX19	OMIM:201400
HP:0012638	Abnormal nervous system physiology	84818	IL17RC	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	64581	CLEC7A	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	23765	IL17RA	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	112744	IL17F	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	63929	XPNPEP3	OMIM:613159
HP:0012638	Abnormal nervous system physiology	9130	FAM50A	OMIM:300261
HP:0012638	Abnormal nervous system physiology	8974	P4HA2	ORPHA:397
HP:0012638	Abnormal nervous system physiology	10111	RAD50	OMIM:613078
HP:0012638	Abnormal nervous system physiology	5073	PARN	OMIM:616353
HP:0012638	Abnormal nervous system physiology	5073	PARN	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	27130	INVS	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	57728	WDR19	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	2038	EPB42	ORPHA:822
HP:0012638	Abnormal nervous system physiology	6710	SPTB	ORPHA:822
HP:0012638	Abnormal nervous system physiology	6708	SPTA1	ORPHA:822
HP:0012638	Abnormal nervous system physiology	1736	DKC1	OMIM:305000
HP:0012638	Abnormal nervous system physiology	1736	DKC1	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	23162	MAPK8IP3	OMIM:618443
HP:0012638	Abnormal nervous system physiology	29893	PSMC3IP	ORPHA:243
HP:0012638	Abnormal nervous system physiology	171568	POLR3H	ORPHA:243
HP:0012638	Abnormal nervous system physiology	2516	NR5A1	ORPHA:243
HP:0012638	Abnormal nervous system physiology	125150	ZSWIM7	ORPHA:243
HP:0012638	Abnormal nervous system physiology	9210	BMP15	ORPHA:243
HP:0012638	Abnormal nervous system physiology	23514	SPIDR	ORPHA:243
HP:0012638	Abnormal nervous system physiology	2492	FSHR	ORPHA:243
HP:0012638	Abnormal nervous system physiology	646	BNC1	ORPHA:243
HP:0012638	Abnormal nervous system physiology	2299	FOXI1	ORPHA:705
HP:0012638	Abnormal nervous system physiology	51750	RTEL1	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	6591	SNAI2	ORPHA:2884
HP:0012638	Abnormal nervous system physiology	229	ALDOB	OMIM:229600
HP:0012638	Abnormal nervous system physiology	229	ALDOB	ORPHA:469
HP:0012638	Abnormal nervous system physiology	148738	HJV	OMIM:602390
HP:0012638	Abnormal nervous system physiology	148738	HJV	ORPHA:79230
HP:0012638	Abnormal nervous system physiology	55788	LMBRD1	OMIM:277380
HP:0012638	Abnormal nervous system physiology	55788	LMBRD1	ORPHA:79284
HP:0012638	Abnormal nervous system physiology	3141	HLCS	OMIM:253270
HP:0012638	Abnormal nervous system physiology	3141	HLCS	ORPHA:79242
HP:0012638	Abnormal nervous system physiology	55065	SLC52A1	OMIM:615026
HP:0012638	Abnormal nervous system physiology	1591	CYP24A1	OMIM:143880
HP:0012638	Abnormal nervous system physiology	5826	ABCD4	OMIM:614857
HP:0012638	Abnormal nervous system physiology	6521	SLC4A1	OMIM:611590
HP:0012638	Abnormal nervous system physiology	1629	DBT	OMIM:248600
HP:0012638	Abnormal nervous system physiology	593	BCKDHA	OMIM:248600
HP:0012638	Abnormal nervous system physiology	594	BCKDHB	OMIM:248600
HP:0012638	Abnormal nervous system physiology	654	BMP6	ORPHA:465508
HP:0012638	Abnormal nervous system physiology	445	ASS1	OMIM:215700
HP:0012638	Abnormal nervous system physiology	7201	TRHR	ORPHA:99832
HP:0012638	Abnormal nervous system physiology	7201	TRHR	OMIM:618573
HP:0012638	Abnormal nervous system physiology	6528	SLC5A5	OMIM:274400
HP:0012638	Abnormal nervous system physiology	6528	SLC5A5	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	6135	RPL11	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6138	RPL15	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6229	RPS24	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6125	RPL5	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6204	RPS10	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6165	RPL35A	ORPHA:124
HP:0012638	Abnormal nervous system physiology	2623	GATA1	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6223	RPS19	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6232	RPS27	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6231	RPS26	ORPHA:124
HP:0012638	Abnormal nervous system physiology	11224	RPL35	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6160	RPL31	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6218	RPS17	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6201	RPS7	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6155	RPL27	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6154	RPL26	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6210	RPS15A	ORPHA:124
HP:0012638	Abnormal nervous system physiology	90121	TSR2	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6141	RPL18	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6235	RPS29	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6234	RPS28	ORPHA:124
HP:0012638	Abnormal nervous system physiology	5076	PAX2	ORPHA:97362
HP:0012638	Abnormal nervous system physiology	6948	TCN2	OMIM:275350
HP:0012638	Abnormal nervous system physiology	3875	KRT18	OMIM:215600
HP:0012638	Abnormal nervous system physiology	10560	SLC19A2	ORPHA:49827
HP:0012638	Abnormal nervous system physiology	2710	GK	OMIM:307030
HP:0012638	Abnormal nervous system physiology	7019	TFAM	OMIM:617156
HP:0012638	Abnormal nervous system physiology	11274	USP18	OMIM:617397
HP:0012638	Abnormal nervous system physiology	405753	DUOXA2	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	7038	TG	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	7173	TPO	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	389434	IYD	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	3712	IVD	OMIM:243500
HP:0012638	Abnormal nervous system physiology	57817	HAMP	ORPHA:79230
HP:0012638	Abnormal nervous system physiology	326625	MMAB	OMIM:251110
HP:0012638	Abnormal nervous system physiology	435	ASL	OMIM:207900
HP:0012638	Abnormal nervous system physiology	54796	BNC2	ORPHA:93110
HP:0012638	Abnormal nervous system physiology	2998	GYS2	ORPHA:2089
HP:0012638	Abnormal nervous system physiology	2203	FBP1	OMIM:229700
HP:0012638	Abnormal nervous system physiology	9054	NFS1	OMIM:619386
HP:0012638	Abnormal nervous system physiology	1373	CPS1	OMIM:237300
HP:0012638	Abnormal nervous system physiology	51256	TBC1D7	OMIM:248000
HP:0012638	Abnormal nervous system physiology	4522	MTHFD1	OMIM:617780
HP:0012638	Abnormal nervous system physiology	3764	KCNJ8	ORPHA:1517
HP:0012638	Abnormal nervous system physiology	90	ACVR1	OMIM:135100
HP:0012638	Abnormal nervous system physiology	84572	GNPTG	OMIM:252605
HP:0012638	Abnormal nervous system physiology	80153	EDC3	OMIM:616460
HP:0012638	Abnormal nervous system physiology	200734	SPRED2	OMIM:619745
HP:0012638	Abnormal nervous system physiology	81794	ADAMTS10	OMIM:277600
HP:0012638	Abnormal nervous system physiology	81794	ADAMTS10	ORPHA:3449
HP:0012638	Abnormal nervous system physiology	10021	HCN4	OMIM:619521
HP:0012638	Abnormal nervous system physiology	178	AGL	ORPHA:366
HP:0012638	Abnormal nervous system physiology	60529	ALX4	ORPHA:228390
HP:0012638	Abnormal nervous system physiology	6885	MAP3K7	OMIM:617137
HP:0012638	Abnormal nervous system physiology	3714	JAG2	OMIM:619566
HP:0012638	Abnormal nervous system physiology	537	ATP6AP1	OMIM:300972
HP:0012638	Abnormal nervous system physiology	10013	HDAC6	OMIM:300863
HP:0012638	Abnormal nervous system physiology	10013	HDAC6	ORPHA:163966
HP:0012638	Abnormal nervous system physiology	55213	RCBTB1	OMIM:617175
HP:0012638	Abnormal nervous system physiology	29957	SLC25A24	ORPHA:2095
HP:0012638	Abnormal nervous system physiology	5894	RAF1	ORPHA:500
HP:0012638	Abnormal nervous system physiology	84905	ZNF341	OMIM:618282
HP:0012638	Abnormal nervous system physiology	4256	MGP	OMIM:245150
HP:0012638	Abnormal nervous system physiology	4256	MGP	ORPHA:85202
HP:0012638	Abnormal nervous system physiology	23133	PHF8	ORPHA:85287
HP:0012638	Abnormal nervous system physiology	23133	PHF8	OMIM:300263
HP:0012638	Abnormal nervous system physiology	92344	GORAB	ORPHA:2078
HP:0012638	Abnormal nervous system physiology	5831	PYCR1	ORPHA:2078
HP:0012638	Abnormal nervous system physiology	375056	MIA3	OMIM:619269
HP:0012638	Abnormal nervous system physiology	6499	SKIC2	ORPHA:84064
HP:0012638	Abnormal nervous system physiology	55027	HEATR3	OMIM:620072
HP:0012638	Abnormal nervous system physiology	254065	BRWD3	OMIM:300659
HP:0012638	Abnormal nervous system physiology	92154	MTSS2	OMIM:620086
HP:0012638	Abnormal nervous system physiology	6307	MSMO1	OMIM:616834
HP:0012638	Abnormal nervous system physiology	79738	BBS10	OMIM:615987
HP:0012638	Abnormal nervous system physiology	5648	MASP1	OMIM:257920
HP:0012638	Abnormal nervous system physiology	169792	GLIS3	OMIM:610199
HP:0012638	Abnormal nervous system physiology	2122	MECOM	OMIM:616738
HP:0012638	Abnormal nervous system physiology	29980	DONSON	OMIM:617604
HP:0012638	Abnormal nervous system physiology	158326	FREM1	OMIM:608980
HP:0012638	Abnormal nervous system physiology	9702	CEP57	OMIM:614114
HP:0012638	Abnormal nervous system physiology	113246	C12orf57	OMIM:218340
HP:0012638	Abnormal nervous system physiology	57502	NLGN4X	OMIM:300495
HP:0012638	Abnormal nervous system physiology	23309	SIN3B	ORPHA:500166
HP:0012638	Abnormal nervous system physiology	23001	WDFY3	OMIM:617520
HP:0012638	Abnormal nervous system physiology	5133	PDCD1	OMIM:126200
HP:0012638	Abnormal nervous system physiology	10068	IL18BP	OMIM:618549
HP:0012638	Abnormal nervous system physiology	867	CBL	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6237	RRAS	ORPHA:648
HP:0012638	Abnormal nervous system physiology	22808	MRAS	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6655	SOS2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	5922	RASA2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	54345	SOX18	OMIM:137940
HP:0012638	Abnormal nervous system physiology	5034	P4HB	OMIM:112240
HP:0012638	Abnormal nervous system physiology	5034	P4HB	ORPHA:2050
HP:0012638	Abnormal nervous system physiology	11311	VPS45	OMIM:615285
HP:0012638	Abnormal nervous system physiology	6603	SMARCD2	OMIM:617475
HP:0012638	Abnormal nervous system physiology	6888	TALDO1	ORPHA:101028
HP:0012638	Abnormal nervous system physiology	7372	UMPS	ORPHA:30
HP:0012638	Abnormal nervous system physiology	7372	UMPS	OMIM:258900
HP:0012638	Abnormal nervous system physiology	84068	SLC10A7	OMIM:618363
HP:0012638	Abnormal nervous system physiology	63931	MRPS14	OMIM:618378
HP:0012638	Abnormal nervous system physiology	168667	BMPER	OMIM:608022
HP:0012638	Abnormal nervous system physiology	2294	FOXF1	OMIM:265380
HP:0012638	Abnormal nervous system physiology	92579	G6PC3	OMIM:612541
HP:0012638	Abnormal nervous system physiology	63894	VIPAS39	OMIM:613404
HP:0012638	Abnormal nervous system physiology	80152	CENPT	OMIM:618702
HP:0012638	Abnormal nervous system physiology	10736	SIX2	ORPHA:488437
HP:0012638	Abnormal nervous system physiology	3284	HSD3B2	ORPHA:90791
HP:0012638	Abnormal nervous system physiology	23184	MESD	OMIM:618644
HP:0012638	Abnormal nervous system physiology	79184	BRCC3	ORPHA:280679
HP:0012638	Abnormal nervous system physiology	85301	COL27A1	OMIM:615155
HP:0012638	Abnormal nervous system physiology	7385	UQCRC2	OMIM:615160
HP:0012638	Abnormal nervous system physiology	6514	SLC2A2	OMIM:227810
HP:0012638	Abnormal nervous system physiology	2683	B4GALT1	OMIM:607091
HP:0012638	Abnormal nervous system physiology	23405	DICER1	OMIM:618272
HP:0012638	Abnormal nervous system physiology	90416	CCDC32	OMIM:619123
HP:0012638	Abnormal nervous system physiology	54938	SARS2	OMIM:613845
HP:0012638	Abnormal nervous system physiology	23265	EXOC7	OMIM:619072
HP:0012638	Abnormal nervous system physiology	2615	LRRC32	OMIM:619074
HP:0012638	Abnormal nervous system physiology	9080	CLDN9	OMIM:619093
HP:0012638	Abnormal nervous system physiology	147007	TMEM199	OMIM:616829
HP:0012638	Abnormal nervous system physiology	9775	EIF4A3	OMIM:268305
HP:0012638	Abnormal nervous system physiology	1828	DSG1	OMIM:615508
HP:0012638	Abnormal nervous system physiology	865	CBFB	OMIM:620099
HP:0012638	Abnormal nervous system physiology	9780	PIEZO1	OMIM:616843
HP:0012638	Abnormal nervous system physiology	3313	HSPA9	OMIM:616854
HP:0012638	Abnormal nervous system physiology	26258	BLOC1S6	OMIM:614171
HP:0012638	Abnormal nervous system physiology	6809	STX3	OMIM:619446
HP:0012638	Abnormal nervous system physiology	6809	STX3	ORPHA:2290
HP:0012638	Abnormal nervous system physiology	56975	FAM20C	OMIM:259775
HP:0012638	Abnormal nervous system physiology	3988	LIPA	ORPHA:75233
HP:0012638	Abnormal nervous system physiology	2193	FARSA	OMIM:619013
HP:0012638	Abnormal nervous system physiology	26276	VPS33B	OMIM:620009
HP:0012638	Abnormal nervous system physiology	26276	VPS33B	OMIM:208085
HP:0012638	Abnormal nervous system physiology	3110	MNX1	OMIM:176450
HP:0012638	Abnormal nervous system physiology	137814	NKX2-6	OMIM:217095
HP:0012638	Abnormal nervous system physiology	8985	PLOD3	OMIM:612394
HP:0012638	Abnormal nervous system physiology	25	ABL1	OMIM:617602
HP:0012638	Abnormal nervous system physiology	11222	MRPL3	OMIM:614582
HP:0012638	Abnormal nervous system physiology	60528	ELAC2	OMIM:615440
HP:0012638	Abnormal nervous system physiology	115286	SLC25A26	OMIM:616794
HP:0012638	Abnormal nervous system physiology	3021	H3-3B	OMIM:619721
HP:0012638	Abnormal nervous system physiology	3162	HMOX1	OMIM:614034
HP:0012638	Abnormal nervous system physiology	4056	LTC4S	OMIM:614037
HP:0012638	Abnormal nervous system physiology	79639	TMEM53	OMIM:619727
HP:0012638	Abnormal nervous system physiology	6440	SFTPC	OMIM:610913
HP:0012638	Abnormal nervous system physiology	64175	P3H1	OMIM:610915
HP:0012638	Abnormal nervous system physiology	130589	GALM	OMIM:618881
HP:0012638	Abnormal nervous system physiology	6650	CAPN15	OMIM:619318
HP:0012638	Abnormal nervous system physiology	84701	COX4I2	OMIM:612714
HP:0012638	Abnormal nervous system physiology	3674	ITGA2B	ORPHA:853
HP:0012638	Abnormal nervous system physiology	3673	ITGA2	ORPHA:853
HP:0012638	Abnormal nervous system physiology	135228	CD109	ORPHA:853
HP:0012638	Abnormal nervous system physiology	3690	ITGB3	ORPHA:853
HP:0012638	Abnormal nervous system physiology	55898	UNC45A	OMIM:619377
HP:0012638	Abnormal nervous system physiology	4645	MYO5B	ORPHA:2290
HP:0012638	Abnormal nervous system physiology	11023	VAX1	OMIM:614402
HP:0012638	Abnormal nervous system physiology	79650	USB1	ORPHA:1775
HP:0012638	Abnormal nervous system physiology	55135	WRAP53	ORPHA:1775
HP:0012638	Abnormal nervous system physiology	51013	EXOSC1	OMIM:619304
HP:0012638	Abnormal nervous system physiology	55687	TRMU	ORPHA:254864
HP:0012638	Abnormal nervous system physiology	9987	HNRNPDL	OMIM:609115
HP:0012638	Abnormal nervous system physiology	84520	GON7	OMIM:619603
HP:0012638	Abnormal nervous system physiology	8879	SGPL1	OMIM:617575
HP:0012638	Abnormal nervous system physiology	3516	RBPJ	ORPHA:974
HP:0012638	Abnormal nervous system physiology	4851	NOTCH1	ORPHA:974
HP:0012638	Abnormal nervous system physiology	57514	ARHGAP31	ORPHA:974
HP:0012638	Abnormal nervous system physiology	285203	EOGT	ORPHA:974
HP:0012638	Abnormal nervous system physiology	340665	CYP26C1	ORPHA:398189
HP:0012638	Abnormal nervous system physiology	29899	GPSM2	OMIM:604213
HP:0012638	Abnormal nervous system physiology	54101	RIPK4	ORPHA:1401
HP:0012638	Abnormal nervous system physiology	4919	ROR1	OMIM:617654
HP:0012638	Abnormal nervous system physiology	3703	STT3A	OMIM:619714
HP:0012638	Abnormal nervous system physiology	7552	ZNF711	OMIM:300803
HP:0012638	Abnormal nervous system physiology	2201	FBN2	OMIM:121050
HP:0012638	Abnormal nervous system physiology	1777	DNASE2	OMIM:619858
HP:0012638	Abnormal nervous system physiology	9581	PREPL	OMIM:616224
HP:0012638	Abnormal nervous system physiology	157680	VPS13B	OMIM:216550
HP:0012638	Abnormal nervous system physiology	1290	COL5A2	ORPHA:287
HP:0012638	Abnormal nervous system physiology	1594	CYP27B1	OMIM:264700
HP:0012638	Abnormal nervous system physiology	1594	CYP27B1	ORPHA:289157
HP:0012638	Abnormal nervous system physiology	7386	UQCRFS1	OMIM:618775
HP:0012638	Abnormal nervous system physiology	55621	TRMT1	OMIM:618302
HP:0012638	Abnormal nervous system physiology	120227	CYP2R1	ORPHA:289157
HP:0012638	Abnormal nervous system physiology	9453	GGPS1	OMIM:619518
HP:0012638	Abnormal nervous system physiology	9841	ZBTB24	OMIM:614069
HP:0012638	Abnormal nervous system physiology	51692	CPSF3	OMIM:619876
HP:0012638	Abnormal nervous system physiology	51098	IFT52	OMIM:617102
HP:0012638	Abnormal nervous system physiology	51341	ZBTB7A	OMIM:619769
HP:0012638	Abnormal nervous system physiology	6901	TAFAZZIN	OMIM:302060
HP:0012638	Abnormal nervous system physiology	124583	CANT1	OMIM:251450
HP:0012638	Abnormal nervous system physiology	3978	LIG1	OMIM:619774
HP:0012638	Abnormal nervous system physiology	54941	RNF125	OMIM:616260
HP:0012638	Abnormal nervous system physiology	55151	TMEM38B	OMIM:615066
HP:0012638	Abnormal nervous system physiology	3480	IGF1R	ORPHA:73273
HP:0012638	Abnormal nervous system physiology	3480	IGF1R	OMIM:270450
HP:0012638	Abnormal nervous system physiology	4921	DDR2	OMIM:271665
HP:0012638	Abnormal nervous system physiology	6477	SIAH1	OMIM:619314
HP:0012638	Abnormal nervous system physiology	203547	VMA21	OMIM:310440
HP:0012638	Abnormal nervous system physiology	5745	PTH1R	OMIM:600002
HP:0012638	Abnormal nervous system physiology	1363	CPE	OMIM:619326
HP:0012638	Abnormal nervous system physiology	9469	CHST3	ORPHA:263463
HP:0012638	Abnormal nervous system physiology	9469	CHST3	OMIM:245600
HP:0012638	Abnormal nervous system physiology	51434	ANAPC7	OMIM:619699
HP:0012638	Abnormal nervous system physiology	92255	LMBRD2	OMIM:619694
HP:0012638	Abnormal nervous system physiology	84265	POLR3GL	OMIM:619234
HP:0012638	Abnormal nervous system physiology	54809	SAMD9	OMIM:617053
HP:0012638	Abnormal nervous system physiology	113189	CHST14	OMIM:601776
HP:0012638	Abnormal nervous system physiology	3636	INPPL1	OMIM:258480
HP:0012638	Abnormal nervous system physiology	203068	TUBB	OMIM:156610
HP:0012638	Abnormal nervous system physiology	285590	SH3PXD2B	OMIM:249420
HP:0012638	Abnormal nervous system physiology	3557	IL1RN	OMIM:612852
HP:0012638	Abnormal nervous system physiology	4322	MMP13	OMIM:250400
HP:0012638	Abnormal nervous system physiology	10551	AGR2	OMIM:620233
HP:0012638	Abnormal nervous system physiology	11014	KDELR2	OMIM:619131
HP:0012638	Abnormal nervous system physiology	100	ADA	OMIM:102700
HP:0012638	Abnormal nervous system physiology	5236	PGM1	OMIM:614921
HP:0012638	Abnormal nervous system physiology	124093	CCDC78	OMIM:614807
HP:0012638	Abnormal nervous system physiology	90523	MLIP	OMIM:620138
HP:0012638	Abnormal nervous system physiology	2690	GHR	ORPHA:633
HP:0012638	Abnormal nervous system physiology	121340	SP7	OMIM:613849
HP:0012638	Abnormal nervous system physiology	27178	IL37	OMIM:619398
HP:0012638	Abnormal nervous system physiology	9640	ZNF592	ORPHA:83472
HP:0012638	Abnormal nervous system physiology	7125	TNNC2	OMIM:620161
HP:0012638	Abnormal nervous system physiology	1185	CLCN6	OMIM:619173
HP:0012638	Abnormal nervous system physiology	191	AHCY	OMIM:613752
HP:0012638	Abnormal nervous system physiology	36	ACADSB	OMIM:610006
HP:0012638	Abnormal nervous system physiology	56984	PSMG2	OMIM:619183
HP:0012638	Abnormal nervous system physiology	3070	HELLS	OMIM:616911
HP:0012638	Abnormal nervous system physiology	165	AEBP1	ORPHA:536532
HP:0012638	Abnormal nervous system physiology	9653	HS2ST1	OMIM:619194
HP:0012638	Abnormal nervous system physiology	9321	TRIP11	OMIM:184260
HP:0012638	Abnormal nervous system physiology	91252	SLC39A13	OMIM:612350
HP:0012638	Abnormal nervous system physiology	2719	GPC3	OMIM:312870
HP:0012638	Abnormal nervous system physiology	579	NKX3-2	OMIM:613330
HP:0012638	Abnormal nervous system physiology	10982	MAPRE2	OMIM:616734
HP:0012638	Abnormal nervous system physiology	55603	TENT5A	OMIM:617952
HP:0012638	Abnormal nervous system physiology	26007	TKFC	OMIM:618805
HP:0012638	Abnormal nervous system physiology	84693	MCEE	OMIM:251120
HP:0012638	Abnormal nervous system physiology	4982	TNFRSF11B	OMIM:239000
HP:0012638	Abnormal nervous system physiology	7421	VDR	OMIM:277440
HP:0012638	Abnormal nervous system physiology	2588	GALNS	OMIM:253000
HP:0012638	Abnormal nervous system physiology	23209	MLC1	OMIM:604004
HP:0012638	Abnormal nervous system physiology	83737	ITCH	OMIM:613385
HP:0012638	Abnormal nervous system physiology	374462	PTPRQ	OMIM:613391
HP:0012638	Abnormal nervous system physiology	9320	TRIP12	OMIM:617752
HP:0012638	Abnormal nervous system physiology	2186	BPTF	OMIM:617755
HP:0012638	Abnormal nervous system physiology	84700	MYO18B	OMIM:616549
HP:0012638	Abnormal nervous system physiology	8777	MPDZ	OMIM:615219
HP:0012638	Abnormal nervous system physiology	5718	PSMD12	OMIM:617516
HP:0012638	Abnormal nervous system physiology	9939	RBM8A	OMIM:274000
HP:0012638	Abnormal nervous system physiology	166929	SGMS2	OMIM:126550
HP:0012638	Abnormal nervous system physiology	4848	CNOT2	OMIM:618608
HP:0012638	Abnormal nervous system physiology	26229	B3GAT3	OMIM:245600
HP:0012638	Abnormal nervous system physiology	23404	EXOSC2	OMIM:617763
HP:0012638	Abnormal nervous system physiology	5087	PBX1	OMIM:617641
HP:0012638	Abnormal nervous system physiology	4858	NOVA2	OMIM:618859
HP:0012638	Abnormal nervous system physiology	9181	ARHGEF2	OMIM:617523
HP:0012638	Abnormal nervous system physiology	25871	NEPRO	OMIM:618853
HP:0012638	Abnormal nervous system physiology	4654	MYOD1	OMIM:618975
HP:0012638	Abnormal nervous system physiology	22934	RPIA	OMIM:608611
HP:0012638	Abnormal nervous system physiology	10229	COQ7	OMIM:616733
HP:0012638	Abnormal nervous system physiology	1910	EDNRB	OMIM:277580
HP:0012638	Abnormal nervous system physiology	10801	SEPTIN9	ORPHA:2901
HP:0012638	Abnormal nervous system physiology	56704	JPH1	OMIM:607831
HP:0012638	Abnormal nervous system physiology	1272	CNTN1	OMIM:612540
HP:0012638	Abnormal nervous system physiology	91949	COG7	ORPHA:79333
HP:0012638	Abnormal nervous system physiology	270	AMPD1	OMIM:615511
HP:0012638	Abnormal nervous system physiology	859	CAV3	ORPHA:488650
HP:0012638	Abnormal nervous system physiology	29929	ALG6	OMIM:603147
HP:0012638	Abnormal nervous system physiology	51099	ABHD5	ORPHA:98907
HP:0012638	Abnormal nervous system physiology	51399	TRAPPC4	OMIM:618741
HP:0012638	Abnormal nervous system physiology	8726	EED	OMIM:617561
HP:0012638	Abnormal nervous system physiology	11107	PRDM5	OMIM:614170
HP:0012638	Abnormal nervous system physiology	11107	PRDM5	ORPHA:90354
HP:0012638	Abnormal nervous system physiology	8789	FBP2	OMIM:619864
HP:0012638	Abnormal nervous system physiology	88	ACTN2	OMIM:618655
HP:0012638	Abnormal nervous system physiology	7471	WNT1	ORPHA:85193
HP:0012638	Abnormal nervous system physiology	89780	WNT3A	ORPHA:85193
HP:0012638	Abnormal nervous system physiology	6305	SBF1	OMIM:615284
HP:0012638	Abnormal nervous system physiology	84627	ZNF469	ORPHA:90354
HP:0012638	Abnormal nervous system physiology	4548	MTR	OMIM:250940
HP:0012638	Abnormal nervous system physiology	80217	CFAP43	OMIM:236690
HP:0012638	Abnormal nervous system physiology	3300	DNAJB2	OMIM:614881
HP:0012638	Abnormal nervous system physiology	4313	MMP2	OMIM:259600
HP:0012638	Abnormal nervous system physiology	4148	MATN3	ORPHA:93311
HP:0012638	Abnormal nervous system physiology	7388	UQCRH	OMIM:620137
HP:0012638	Abnormal nervous system physiology	763	CA5A	OMIM:615751
HP:0012638	Abnormal nervous system physiology	2859	GPR35	ORPHA:171
HP:0012638	Abnormal nervous system physiology	10507	SEMA4D	ORPHA:171
HP:0012638	Abnormal nervous system physiology	4485	MST1	ORPHA:171
HP:0012638	Abnormal nervous system physiology	8772	FADD	OMIM:613759
HP:0012638	Abnormal nervous system physiology	8772	FADD	ORPHA:306550
HP:0012638	Abnormal nervous system physiology	1376	CPT2	OMIM:614212
HP:0012638	Abnormal nervous system physiology	6773	STAT2	OMIM:616636
HP:0012638	Abnormal nervous system physiology	28976	ACAD9	ORPHA:99901
HP:0012638	Abnormal nervous system physiology	28976	ACAD9	OMIM:611126
HP:0012638	Abnormal nervous system physiology	788	SLC25A20	ORPHA:159
HP:0012638	Abnormal nervous system physiology	51241	COX16	OMIM:619355
HP:0012638	Abnormal nervous system physiology	51660	MPC1	OMIM:614741
HP:0012638	Abnormal nervous system physiology	7284	TUFM	OMIM:610678
HP:0012638	Abnormal nervous system physiology	1537	CYC1	OMIM:615453
HP:0012638	Abnormal nervous system physiology	54822	TRPM7	OMIM:105500
HP:0012638	Abnormal nervous system physiology	6620	SNCB	OMIM:127750
HP:0012638	Abnormal nervous system physiology	23250	ATP11A	OMIM:619851
HP:0012638	Abnormal nervous system physiology	8087	FXR1	OMIM:618822
HP:0012638	Abnormal nervous system physiology	8087	FXR1	OMIM:618823
HP:0012638	Abnormal nervous system physiology	89874	SLC25A21	OMIM:618811
HP:0012638	Abnormal nervous system physiology	91452	ACBD5	OMIM:618863
HP:0012638	Abnormal nervous system physiology	64849	SLC13A3	OMIM:618384
HP:0012638	Abnormal nervous system physiology	1374	CPT1A	ORPHA:156
HP:0012638	Abnormal nervous system physiology	1621	DBH	ORPHA:230
HP:0012638	Abnormal nervous system physiology	338	APOB	OMIM:615558
HP:0012638	Abnormal nervous system physiology	2671	GFER	ORPHA:330054
HP:0012638	Abnormal nervous system physiology	246329	STAC3	ORPHA:168572
HP:0012638	Abnormal nervous system physiology	4591	TRIM37	ORPHA:2576
HP:0012638	Abnormal nervous system physiology	5162	PDHB	ORPHA:255138
HP:0012638	Abnormal nervous system physiology	23175	LPIN1	ORPHA:99845
HP:0012638	Abnormal nervous system physiology	2010	EMD	ORPHA:98863
HP:0012638	Abnormal nervous system physiology	60681	FKBP10	ORPHA:1149
HP:0012638	Abnormal nervous system physiology	4509	MT-ATP8	ORPHA:480
HP:0012638	Abnormal nervous system physiology	5696	PSMB8	OMIM:256040
HP:0012638	Abnormal nervous system physiology	79188	TMEM43	ORPHA:98853
HP:0012638	Abnormal nervous system physiology	23224	SYNE2	ORPHA:98853
HP:0012638	Abnormal nervous system physiology	3158	HMGCS2	OMIM:605911
HP:0012638	Abnormal nervous system physiology	4791	NFKB2	ORPHA:293978
HP:0012638	Abnormal nervous system physiology	7351	UCP2	ORPHA:276556
HP:0012638	Abnormal nervous system physiology	3033	HADH	OMIM:609975
HP:0012638	Abnormal nervous system physiology	2108	ETFA	OMIM:231680
HP:0012638	Abnormal nervous system physiology	2109	ETFB	OMIM:231680
HP:0012638	Abnormal nervous system physiology	2110	ETFDH	OMIM:231680
HP:0012638	Abnormal nervous system physiology	6309	SC5D	ORPHA:46059
HP:0012638	Abnormal nervous system physiology	6228	RPS23	OMIM:617412
HP:0012638	Abnormal nervous system physiology	129563	DIS3L2	ORPHA:2849
HP:0012638	Abnormal nervous system physiology	3034	HAL	ORPHA:2157
HP:0012638	Abnormal nervous system physiology	79140	CCDC28B	OMIM:209900
HP:0012638	Abnormal nervous system physiology	1857	DVL3	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	7474	WNT5A	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	1855	DVL1	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	2535	FZD2	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	7454	WAS	ORPHA:906
HP:0012638	Abnormal nervous system physiology	7456	WIPF1	ORPHA:906
HP:0012638	Abnormal nervous system physiology	81031	SLC2A10	ORPHA:3342
HP:0012638	Abnormal nervous system physiology	4644	MYO5A	ORPHA:33445
HP:0012638	Abnormal nervous system physiology	641	BLM	OMIM:210900
HP:0012638	Abnormal nervous system physiology	2324	FLT4	ORPHA:79452
HP:0012638	Abnormal nervous system physiology	226	ALDOA	ORPHA:57
HP:0012638	Abnormal nervous system physiology	165918	RNF168	ORPHA:420741
HP:0012638	Abnormal nervous system physiology	9158	FIBP	ORPHA:500095
HP:0012638	Abnormal nervous system physiology	9948	WDR1	OMIM:150550
HP:0012638	Abnormal nervous system physiology	51119	SBDS	OMIM:260400
HP:0012638	Abnormal nervous system physiology	134218	DNAJC21	OMIM:260400
HP:0012638	Abnormal nervous system physiology	6729	SRP54	OMIM:260400
HP:0012638	Abnormal nervous system physiology	26277	TINF2	OMIM:127550
HP:0012638	Abnormal nervous system physiology	7012	TERC	OMIM:127550
HP:0012638	Abnormal nervous system physiology	26128	KIFBP	ORPHA:66629
HP:0012638	Abnormal nervous system physiology	84892	POMGNT2	ORPHA:899
HP:0012638	Abnormal nervous system physiology	10329	RXYLT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	11041	B4GAT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	81620	CDT1	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	5000	ORC4	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	23594	ORC6	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	8318	CDC45	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	990	CDC6	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	4998	ORC1	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	51053	GMNN	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	1349	COX7B	ORPHA:2556
HP:0012638	Abnormal nervous system physiology	3052	HCCS	ORPHA:2556
HP:0012638	Abnormal nervous system physiology	4613	MYCN	OMIM:164280
HP:0012638	Abnormal nervous system physiology	4613	MYCN	ORPHA:391641
HP:0012638	Abnormal nervous system physiology	4990	SIX6	OMIM:206900
HP:0012638	Abnormal nervous system physiology	2887	GRB10	ORPHA:96182
HP:0012638	Abnormal nervous system physiology	60676	PAPPA2	OMIM:619489
HP:0012638	Abnormal nervous system physiology	6853	SYN1	ORPHA:85294
HP:0012638	Abnormal nervous system physiology	6853	SYN1	OMIM:300491
HP:0012638	Abnormal nervous system physiology	100151683	RNU4ATAC	ORPHA:2636
HP:0012638	Abnormal nervous system physiology	26123	TCTN3	ORPHA:2753
HP:0012638	Abnormal nervous system physiology	71	ACTG1	ORPHA:2995
HP:0012638	Abnormal nervous system physiology	5286	PIK3C2A	ORPHA:557003
HP:0012638	Abnormal nervous system physiology	5144	PDE4D	ORPHA:280651
HP:0012638	Abnormal nervous system physiology	55294	FBXW7	OMIM:620012
HP:0012638	Abnormal nervous system physiology	51569	UFM1	OMIM:617899
HP:0012638	Abnormal nervous system physiology	387787	LIPT2	OMIM:617668
HP:0012638	Abnormal nervous system physiology	170825	GSX2	OMIM:618646
HP:0012638	Abnormal nervous system physiology	8560	DEGS1	OMIM:618404
HP:0012638	Abnormal nervous system physiology	79991	STN1	OMIM:617341
HP:0012638	Abnormal nervous system physiology	4052	LTBP1	ORPHA:90349
HP:0012638	Abnormal nervous system physiology	30008	EFEMP2	ORPHA:90349
HP:0012638	Abnormal nervous system physiology	4539	MT-ND4L	OMIM:535000
HP:0012638	Abnormal nervous system physiology	539	ATP5PO	OMIM:620359
HP:0012638	Abnormal nervous system physiology	256472	TMEM151A	OMIM:620245
HP:0012638	Abnormal nervous system physiology	50640	PNPLA8	OMIM:251950
HP:0012638	Abnormal nervous system physiology	8496	PPFIBP1	OMIM:620024
HP:0012638	Abnormal nervous system physiology	9442	MED27	OMIM:619286
HP:0012638	Abnormal nervous system physiology	7167	TPI1	OMIM:615512
HP:0012638	Abnormal nervous system physiology	23065	EMC1	OMIM:616875
HP:0012638	Abnormal nervous system physiology	4329	ALDH6A1	OMIM:614105
HP:0012638	Abnormal nervous system physiology	51733	UPB1	OMIM:613161
HP:0012638	Abnormal nervous system physiology	374969	SVBP	OMIM:618569
HP:0012638	Abnormal nervous system physiology	79693	YRDC	OMIM:619609
HP:0012638	Abnormal nervous system physiology	55037	PTCD3	OMIM:619057
HP:0012638	Abnormal nervous system physiology	1327	COX4I1	OMIM:619060
HP:0012638	Abnormal nervous system physiology	4565	MT-TI	OMIM:545000
HP:0012638	Abnormal nervous system physiology	11019	LIAS	OMIM:614462
HP:0012638	Abnormal nervous system physiology	151	ADRA2B	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	5538	PPT1	OMIM:256730
HP:0012638	Abnormal nervous system physiology	95681	CEP41	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	95681	CEP41	ORPHA:475
HP:0012638	Abnormal nervous system physiology	7428	VHL	ORPHA:276621
HP:0012638	Abnormal nervous system physiology	7428	VHL	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	5979	RET	ORPHA:276621
HP:0012638	Abnormal nervous system physiology	5979	RET	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	2034	EPAS1	ORPHA:276621
HP:0012638	Abnormal nervous system physiology	79600	TCTN1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	9731	CEP104	ORPHA:475
HP:0012638	Abnormal nervous system physiology	23247	KATNIP	ORPHA:475
HP:0012638	Abnormal nervous system physiology	80776	B9D2	ORPHA:475
HP:0012638	Abnormal nervous system physiology	10464	PIBF1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	80210	ARMC9	ORPHA:475
HP:0012638	Abnormal nervous system physiology	25776	CBY1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	1743	DLST	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	2271	FH	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	8402	SLC25A11	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	55654	TMEM127	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	4149	MAX	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	5092	PCBD1	OMIM:264070
HP:0012638	Abnormal nervous system physiology	5092	PCBD1	ORPHA:1578
HP:0012638	Abnormal nervous system physiology	9147	NEMF	OMIM:619099
HP:0012638	Abnormal nervous system physiology	11093	ADAMTS13	OMIM:274150
HP:0012638	Abnormal nervous system physiology	1491	CTH	ORPHA:212
HP:0012638	Abnormal nervous system physiology	3172	HNF4A	ORPHA:263455
HP:0012638	Abnormal nervous system physiology	7138	TNNT1	OMIM:605355
HP:0012638	Abnormal nervous system physiology	7138	TNNT1	ORPHA:98902
HP:0012638	Abnormal nervous system physiology	84065	TMEM222	OMIM:619470
HP:0012638	Abnormal nervous system physiology	940	CD28	ORPHA:3162
HP:0012638	Abnormal nervous system physiology	7133	TNFRSF1B	ORPHA:3162
HP:0012638	Abnormal nervous system physiology	55074	OXR1	OMIM:213000
HP:0012638	Abnormal nervous system physiology	9851	KIAA0753	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	5147	PDE6D	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	51259	TMEM216	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	317662	FAM149B1	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	9786	KIAA0586	ORPHA:397715
HP:0012638	Abnormal nervous system physiology	65082	VPS33A	OMIM:617303
HP:0012638	Abnormal nervous system physiology	65082	VPS33A	ORPHA:505248
HP:0012638	Abnormal nervous system physiology	55870	ASH1L	OMIM:617796
HP:0012638	Abnormal nervous system physiology	22884	WDR37	OMIM:618652
HP:0012638	Abnormal nervous system physiology	5442	POLRMT	OMIM:619743
HP:0012638	Abnormal nervous system physiology	8363	H4C11	OMIM:619759
HP:0012638	Abnormal nervous system physiology	64919	BCL11B	OMIM:617237
HP:0012638	Abnormal nervous system physiology	26173	INTS1	OMIM:618571
HP:0012638	Abnormal nervous system physiology	55656	INTS8	OMIM:618572
HP:0012638	Abnormal nervous system physiology	5898	RALA	OMIM:619311
HP:0012638	Abnormal nervous system physiology	3376	IARS1	ORPHA:541423
HP:0012638	Abnormal nervous system physiology	3376	IARS1	OMIM:617093
HP:0012638	Abnormal nervous system physiology	80311	KLHL15	OMIM:300982
HP:0012638	Abnormal nervous system physiology	389856	USP27X	OMIM:300984
HP:0012638	Abnormal nervous system physiology	11198	SUPT16H	OMIM:619480
HP:0012638	Abnormal nervous system physiology	10682	EBP	OMIM:300960
HP:0012638	Abnormal nervous system physiology	118924	FRA10AC1	OMIM:620113
HP:0012638	Abnormal nervous system physiology	55005	RMND1	OMIM:614922
HP:0012638	Abnormal nervous system physiology	55503	TRPV6	OMIM:618188
HP:0012638	Abnormal nervous system physiology	23116	TOGARAM1	OMIM:619185
HP:0012638	Abnormal nervous system physiology	84162	BLTP1	OMIM:617822
HP:0012638	Abnormal nervous system physiology	10943	MSL3	OMIM:301032
HP:0012638	Abnormal nervous system physiology	6182	MRPL12	OMIM:618951
HP:0012638	Abnormal nervous system physiology	200894	ARL13B	OMIM:612291
HP:0012638	Abnormal nervous system physiology	9918	NCAPD2	OMIM:617983
HP:0012638	Abnormal nervous system physiology	54805	CNNM2	OMIM:616418
HP:0012638	Abnormal nervous system physiology	2937	GSS	OMIM:266130
HP:0012638	Abnormal nervous system physiology	9101	USP8	OMIM:219090
HP:0012638	Abnormal nervous system physiology	4558	MT-TF	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4572	MT-TQ	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4512	MT-CO1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4513	MT-CO2	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4514	MT-CO3	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4574	MT-TS1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4575	MT-TS2	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4564	MT-TH	ORPHA:550
HP:0012638	Abnormal nervous system physiology	9853	RUSC2	OMIM:617773
HP:0012638	Abnormal nervous system physiology	3265	HRAS	ORPHA:2612
HP:0012638	Abnormal nervous system physiology	3265	HRAS	ORPHA:2874
HP:0012638	Abnormal nervous system physiology	3845	KRAS	ORPHA:2612
HP:0012638	Abnormal nervous system physiology	2895	GRID2	OMIM:616204
HP:0012638	Abnormal nervous system physiology	1161	ERCC8	ORPHA:90324
HP:0012638	Abnormal nervous system physiology	1161	ERCC8	ORPHA:90321
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	ORPHA:90324
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	ORPHA:90321
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	OMIM:214150
HP:0012638	Abnormal nervous system physiology	124997	WDR81	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	51761	ATP8A2	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	5521	PPP2R2B	OMIM:604326
HP:0012638	Abnormal nervous system physiology	5521	PPP2R2B	ORPHA:98762
HP:0012638	Abnormal nervous system physiology	10908	PNPLA6	ORPHA:139480
HP:0012638	Abnormal nervous system physiology	10908	PNPLA6	OMIM:612020
HP:0012638	Abnormal nervous system physiology	5917	RARS1	ORPHA:438114
HP:0012638	Abnormal nervous system physiology	5917	RARS1	OMIM:616140
HP:0012638	Abnormal nervous system physiology	200205	IBA57	OMIM:616451
HP:0012638	Abnormal nervous system physiology	10501	SEMA6B	OMIM:618876
HP:0012638	Abnormal nervous system physiology	57156	TMEM63C	OMIM:619966
HP:0012638	Abnormal nervous system physiology	9326	ZNHIT3	ORPHA:2836
HP:0012638	Abnormal nervous system physiology	9326	ZNHIT3	OMIM:260565
HP:0012638	Abnormal nervous system physiology	7920	ABHD16A	OMIM:619735
HP:0012638	Abnormal nervous system physiology	343641	TGM6	ORPHA:276193
HP:0012638	Abnormal nervous system physiology	343641	TGM6	OMIM:613908
HP:0012638	Abnormal nervous system physiology	22872	SEC31A	OMIM:618651
HP:0012638	Abnormal nervous system physiology	84504	NKX6-2	OMIM:617560
HP:0012638	Abnormal nervous system physiology	84504	NKX6-2	ORPHA:527497
HP:0012638	Abnormal nervous system physiology	79731	NARS2	OMIM:616239
HP:0012638	Abnormal nervous system physiology	5373	PMM2	OMIM:212065
HP:0012638	Abnormal nervous system physiology	84879	MFSD2A	OMIM:616486
HP:0012638	Abnormal nervous system physiology	84879	MFSD2A	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	27089	UQCRQ	OMIM:615159
HP:0012638	Abnormal nervous system physiology	92609	TIMM50	OMIM:617698
HP:0012638	Abnormal nervous system physiology	92609	TIMM50	ORPHA:505216
HP:0012638	Abnormal nervous system physiology	8021	NUP214	OMIM:618426
HP:0012638	Abnormal nervous system physiology	122961	ISCA2	OMIM:616370
HP:0012638	Abnormal nervous system physiology	8733	GPAA1	ORPHA:529665
HP:0012638	Abnormal nervous system physiology	8733	GPAA1	OMIM:617810
HP:0012638	Abnormal nervous system physiology	79971	WLS	OMIM:619648
HP:0012638	Abnormal nervous system physiology	11261	CHP1	OMIM:618438
HP:0012638	Abnormal nervous system physiology	2729	GCLC	ORPHA:33574
HP:0012638	Abnormal nervous system physiology	57192	MCOLN1	ORPHA:578
HP:0012638	Abnormal nervous system physiology	57192	MCOLN1	OMIM:252650
HP:0012638	Abnormal nervous system physiology	23299	BICD2	OMIM:615290
HP:0012638	Abnormal nervous system physiology	23299	BICD2	ORPHA:363454
HP:0012638	Abnormal nervous system physiology	7143	TNR	OMIM:619653
HP:0012638	Abnormal nervous system physiology	85365	ALG2	OMIM:607906
HP:0012638	Abnormal nervous system physiology	84833	ATP5MK	OMIM:618683
HP:0012638	Abnormal nervous system physiology	125988	MICOS13	OMIM:618329
HP:0012638	Abnormal nervous system physiology	2678	GGT1	OMIM:231950
HP:0012638	Abnormal nervous system physiology	10195	ALG3	OMIM:601110
HP:0012638	Abnormal nervous system physiology	58497	PRUNE1	OMIM:617481
HP:0012638	Abnormal nervous system physiology	58497	PRUNE1	ORPHA:544469
HP:0012638	Abnormal nervous system physiology	3658	IREB2	OMIM:618451
HP:0012638	Abnormal nervous system physiology	3763	KCNJ6	OMIM:614098
HP:0012638	Abnormal nervous system physiology	3763	KCNJ6	ORPHA:435628
HP:0012638	Abnormal nervous system physiology	22930	RAB3GAP1	OMIM:619420
HP:0012638	Abnormal nervous system physiology	22930	RAB3GAP1	OMIM:600118
HP:0012638	Abnormal nervous system physiology	81622	UNC93B1	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	148022	TICAM1	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	7098	TLR3	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	84706	GPT2	OMIM:616281
HP:0012638	Abnormal nervous system physiology	84706	GPT2	ORPHA:477673
HP:0012638	Abnormal nervous system physiology	92840	REEP6	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6094	ROM1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6017	RLBP1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7401	CLRN1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	24	ABCA4	ORPHA:791
HP:0012638	Abnormal nervous system physiology	130557	ZNF513	ORPHA:791
HP:0012638	Abnormal nervous system physiology	582	BBS1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	92211	CDHR1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23568	ARL2BP	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6121	RPE65	ORPHA:791
HP:0012638	Abnormal nervous system physiology	54806	AHI1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6101	RP1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3419	IDH3A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4751	NEK2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	346007	EYS	ORPHA:791
HP:0012638	Abnormal nervous system physiology	8100	IFT88	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23020	SNRNP200	ORPHA:791
HP:0012638	Abnormal nervous system physiology	762	CA4	ORPHA:791
HP:0012638	Abnormal nervous system physiology	196	AHR	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3614	IMPDH1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	123016	TTC8	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6103	RPGR	ORPHA:791
HP:0012638	Abnormal nervous system physiology	1406	CRX	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5148	PDE6G	ORPHA:791
HP:0012638	Abnormal nervous system physiology	26160	IFT172	ORPHA:791
HP:0012638	Abnormal nervous system physiology	26121	PRPF31	ORPHA:791
HP:0012638	Abnormal nervous system physiology	583	BBS2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4117	MAK	ORPHA:791
HP:0012638	Abnormal nervous system physiology	25794	FSCN2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	375298	CERKL	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3420	IDH3B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	57670	KIAA1549	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7275	TUB	ORPHA:791
HP:0012638	Abnormal nervous system physiology	24148	PRPF6	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23418	CRB1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10461	MERTK	ORPHA:791
HP:0012638	Abnormal nervous system physiology	57709	SLC7A14	ORPHA:791
HP:0012638	Abnormal nervous system physiology	768206	PRCD	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7399	USH2A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23370	ARHGEF18	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5949	RBP3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6010	RHO	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6100	RP9	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10002	NR2E3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9227	LRAT	ORPHA:791
HP:0012638	Abnormal nervous system physiology	84140	FAM161A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	55812	SPATA7	ORPHA:791
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	79797	ZNF408	ORPHA:791
HP:0012638	Abnormal nervous system physiology	403	ARL3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5145	PDE6A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10210	TOPORS	ORPHA:791
HP:0012638	Abnormal nervous system physiology	8842	PROM1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9128	PRPF4	ORPHA:791
HP:0012638	Abnormal nervous system physiology	145226	RDH12	ORPHA:791
HP:0012638	Abnormal nervous system physiology	50939	IMPG2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	8481	OFD1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	49855	SCAPER	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9742	IFT140	ORPHA:791
HP:0012638	Abnormal nervous system physiology	2979	GUCA1B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	1259	CNGA1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	1258	CNGB1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	60509	AGBL5	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5961	PRPH2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	388939	PCARE	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7439	BEST1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9785	DHX38	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7287	TULP1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5995	RGR	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9129	PRPF3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3617	IMPG1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	94137	RP1L1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5158	PDE6B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6102	RP2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	55857	KIZ	ORPHA:791
HP:0012638	Abnormal nervous system physiology	64218	SEMA4A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4901	NRL	ORPHA:791
HP:0012638	Abnormal nervous system physiology	157657	CFAP418	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10594	PRPF8	ORPHA:791
HP:0012638	Abnormal nervous system physiology	84100	ARL6	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6295	SAG	ORPHA:791
HP:0012638	Abnormal nervous system physiology	374291	NDUFS7	OMIM:618224
HP:0012638	Abnormal nervous system physiology	374291	NDUFS7	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	126129	CPT1C	OMIM:616282
HP:0012638	Abnormal nervous system physiology	126129	CPT1C	ORPHA:444099
HP:0012638	Abnormal nervous system physiology	85476	GFM1	OMIM:609060
HP:0012638	Abnormal nervous system physiology	1798	DPAGT1	OMIM:608093
HP:0012638	Abnormal nervous system physiology	4143	MAT1A	OMIM:250850
HP:0012638	Abnormal nervous system physiology	959	CD40LG	OMIM:308230
HP:0012638	Abnormal nervous system physiology	26275	HIBCH	ORPHA:88639
HP:0012638	Abnormal nervous system physiology	440193	CCDC88C	OMIM:616053
HP:0012638	Abnormal nervous system physiology	440193	CCDC88C	ORPHA:423275
HP:0012638	Abnormal nervous system physiology	23114	NFASC	OMIM:618356
HP:0012638	Abnormal nervous system physiology	55182	RNF220	OMIM:619688
HP:0012638	Abnormal nervous system physiology	10978	CLP1	ORPHA:411493
HP:0012638	Abnormal nervous system physiology	10978	CLP1	OMIM:615803
HP:0012638	Abnormal nervous system physiology	29078	NDUFAF4	OMIM:618237
HP:0012638	Abnormal nervous system physiology	84340	GFM2	ORPHA:565624
HP:0012638	Abnormal nervous system physiology	4125	MAN2B1	OMIM:248500
HP:0012638	Abnormal nervous system physiology	7965	AIMP2	OMIM:618006
HP:0012638	Abnormal nervous system physiology	549	AUH	OMIM:250950
HP:0012638	Abnormal nervous system physiology	25778	DSTYK	ORPHA:101003
HP:0012638	Abnormal nervous system physiology	25778	DSTYK	OMIM:270750
HP:0012638	Abnormal nervous system physiology	6045	RNF2	OMIM:619460
HP:0012638	Abnormal nervous system physiology	1781	DYNC1I2	OMIM:618492
HP:0012638	Abnormal nervous system physiology	112812	FDX2	OMIM:251900
HP:0012638	Abnormal nervous system physiology	9496	TBX4	ORPHA:261279
HP:0012638	Abnormal nervous system physiology	84896	ATAD1	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	84896	ATAD1	OMIM:618011
HP:0012638	Abnormal nervous system physiology	9758	FRMPD4	OMIM:300983
HP:0012638	Abnormal nervous system physiology	80821	DDHD1	ORPHA:101008
HP:0012638	Abnormal nervous system physiology	80821	DDHD1	OMIM:609340
HP:0012638	Abnormal nervous system physiology	2071	ERCC3	OMIM:610651
HP:0012638	Abnormal nervous system physiology	84668	HYCC1	OMIM:610532
HP:0012638	Abnormal nervous system physiology	11340	EXOSC8	OMIM:616081
HP:0012638	Abnormal nervous system physiology	11340	EXOSC8	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	9197	SLC33A1	ORPHA:171863
HP:0012638	Abnormal nervous system physiology	57003	CCDC47	OMIM:618268
HP:0012638	Abnormal nervous system physiology	8086	AAAS	ORPHA:869
HP:0012638	Abnormal nervous system physiology	8086	AAAS	OMIM:231550
HP:0012638	Abnormal nervous system physiology	22978	NT5C2	ORPHA:320396
HP:0012638	Abnormal nervous system physiology	22978	NT5C2	OMIM:613162
HP:0012638	Abnormal nervous system physiology	6253	RTN2	OMIM:604805
HP:0012638	Abnormal nervous system physiology	6253	RTN2	ORPHA:100993
HP:0012638	Abnormal nervous system physiology	79143	MBOAT7	OMIM:617188
HP:0012638	Abnormal nervous system physiology	57038	RARS2	OMIM:611523
HP:0012638	Abnormal nervous system physiology	10084	PQBP1	OMIM:309500
HP:0012638	Abnormal nervous system physiology	8242	KDM5C	ORPHA:85279
HP:0012638	Abnormal nervous system physiology	8242	KDM5C	OMIM:300534
HP:0012638	Abnormal nervous system physiology	4668	NAGA	OMIM:609241
HP:0012638	Abnormal nervous system physiology	84153	RNASEH2C	OMIM:610329
HP:0012638	Abnormal nervous system physiology	114034	TOE1	ORPHA:284339
HP:0012638	Abnormal nervous system physiology	114034	TOE1	OMIM:614969
HP:0012638	Abnormal nervous system physiology	3839	KPNA3	ORPHA:171612
HP:0012638	Abnormal nervous system physiology	1496	CTNNA2	OMIM:618174
HP:0012638	Abnormal nervous system physiology	55315	SLC29A3	ORPHA:168569
HP:0012638	Abnormal nervous system physiology	23236	PLCB1	OMIM:613722
HP:0012638	Abnormal nervous system physiology	27445	PCLO	OMIM:608027
HP:0012638	Abnormal nervous system physiology	11113	CIT	OMIM:617090
HP:0012638	Abnormal nervous system physiology	11113	CIT	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	83700	JAM3	OMIM:613730
HP:0012638	Abnormal nervous system physiology	51506	UFC1	OMIM:618076
HP:0012638	Abnormal nervous system physiology	340024	SLC6A19	OMIM:234500
HP:0012638	Abnormal nervous system physiology	340024	SLC6A19	ORPHA:2116
HP:0012638	Abnormal nervous system physiology	118813	ZFYVE27	OMIM:610244
HP:0012638	Abnormal nervous system physiology	6575	SLC20A2	OMIM:213600
HP:0012638	Abnormal nervous system physiology	5159	PDGFRB	OMIM:213600
HP:0012638	Abnormal nervous system physiology	64087	MCCC2	OMIM:210210
HP:0012638	Abnormal nervous system physiology	7276	TTR	OMIM:105210
HP:0012638	Abnormal nervous system physiology	26090	ABHD12	OMIM:612674
HP:0012638	Abnormal nervous system physiology	56922	MCCC1	OMIM:210200
HP:0012638	Abnormal nervous system physiology	149371	EXOC8	OMIM:619076
HP:0012638	Abnormal nervous system physiology	6804	STX1A	ORPHA:904
HP:0012638	Abnormal nervous system physiology	7461	CLIP2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	84277	DNAJC30	ORPHA:904
HP:0012638	Abnormal nervous system physiology	8468	FKBP6	ORPHA:904
HP:0012638	Abnormal nervous system physiology	5982	RFC2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	2969	GTF2I	ORPHA:904
HP:0012638	Abnormal nervous system physiology	3984	LIMK1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	9569	GTF2IRD1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	155382	VPS37D	ORPHA:904
HP:0012638	Abnormal nervous system physiology	155368	METTL27	ORPHA:904
HP:0012638	Abnormal nervous system physiology	114049	BUD23	ORPHA:904
HP:0012638	Abnormal nervous system physiology	7458	EIF4H	ORPHA:904
HP:0012638	Abnormal nervous system physiology	84163	GTF2IRD2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	9275	BCL7B	ORPHA:904
HP:0012638	Abnormal nervous system physiology	26608	TBL2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	653361	NCF1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	135886	TMEM270	ORPHA:904
HP:0012638	Abnormal nervous system physiology	51085	MLXIPL	ORPHA:904
HP:0012638	Abnormal nervous system physiology	51085	MLXIPL	OMIM:194050
HP:0012638	Abnormal nervous system physiology	9031	BAZ1B	ORPHA:904
HP:0012638	Abnormal nervous system physiology	51010	EXOSC3	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	51010	EXOSC3	OMIM:614678
HP:0012638	Abnormal nervous system physiology	91137	SLC25A46	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	91137	SLC25A46	OMIM:616505
HP:0012638	Abnormal nervous system physiology	11117	EMILIN1	OMIM:620080
HP:0012638	Abnormal nervous system physiology	55670	PEX26	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5828	PEX2	ORPHA:44
HP:0012638	Abnormal nervous system physiology	8799	PEX11B	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5830	PEX5	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5193	PEX12	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5194	PEX13	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5195	PEX14	ORPHA:44
HP:0012638	Abnormal nervous system physiology	57393	CLTRN	ORPHA:2116
HP:0012638	Abnormal nervous system physiology	3329	HSPD1	OMIM:605280
HP:0012638	Abnormal nervous system physiology	3329	HSPD1	ORPHA:100994
HP:0012638	Abnormal nervous system physiology	3329	HSPD1	OMIM:612233
HP:0012638	Abnormal nervous system physiology	1384	CRAT	OMIM:617917
HP:0012638	Abnormal nervous system physiology	200403	VWA3B	OMIM:616948
HP:0012638	Abnormal nervous system physiology	51271	UBAP1	ORPHA:100993
HP:0012638	Abnormal nervous system physiology	51142	CHCHD2	OMIM:616710
HP:0012638	Abnormal nervous system physiology	57017	COQ9	OMIM:614654
HP:0012638	Abnormal nervous system physiology	80207	OPA3	OMIM:258501
HP:0012638	Abnormal nervous system physiology	57410	SCYL1	OMIM:616719
HP:0012638	Abnormal nervous system physiology	57410	SCYL1	ORPHA:466794
HP:0012638	Abnormal nervous system physiology	10075	HUWE1	OMIM:309590
HP:0012638	Abnormal nervous system physiology	23600	AMACR	OMIM:614307
HP:0012638	Abnormal nervous system physiology	113235	SLC46A1	ORPHA:90045
HP:0012638	Abnormal nervous system physiology	5859	QARS1	OMIM:615760
HP:0012638	Abnormal nervous system physiology	57505	AARS2	OMIM:615889
HP:0012638	Abnormal nervous system physiology	91869	RFT1	OMIM:612015
HP:0012638	Abnormal nervous system physiology	6709	SPTAN1	OMIM:613477
HP:0012638	Abnormal nervous system physiology	2138	EYA1	ORPHA:2792
HP:0012638	Abnormal nervous system physiology	5075	PAX1	ORPHA:2792
HP:0012638	Abnormal nervous system physiology	100506658	OCLN	ORPHA:1229
HP:0012638	Abnormal nervous system physiology	100506658	OCLN	OMIM:251290
HP:0012638	Abnormal nervous system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	57545	CC2D2A	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	81689	ISCA1	OMIM:617613
HP:0012638	Abnormal nervous system physiology	22948	CCT5	ORPHA:139578
HP:0012638	Abnormal nervous system physiology	22948	CCT5	OMIM:256840
HP:0012638	Abnormal nervous system physiology	6697	SPR	ORPHA:70594
HP:0012638	Abnormal nervous system physiology	79867	TCTN2	OMIM:616654
HP:0012638	Abnormal nervous system physiology	55704	CCDC88A	OMIM:617507
HP:0012638	Abnormal nervous system physiology	6785	ELOVL4	OMIM:133190
HP:0012638	Abnormal nervous system physiology	617	BCS1L	OMIM:124000
HP:0012638	Abnormal nervous system physiology	5456	POU3F4	ORPHA:1435
HP:0012638	Abnormal nervous system physiology	4723	NDUFV1	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	4729	NDUFV2	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	55967	NDUFA12	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	51204	TACO1	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	4724	NDUFS4	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	4724	NDUFS4	OMIM:252010
HP:0012638	Abnormal nervous system physiology	137682	NDUFAF6	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	79133	NDUFAF5	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	100131801	PET100	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	1355	COX15	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	1892	ECHS1	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	4705	NDUFA10	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	51601	LIPT1	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	4695	NDUFA2	ORPHA:255241
HP:0012638	Abnormal nervous system physiology	54888	NSUN2	OMIM:611091
HP:0012638	Abnormal nervous system physiology	8139	GAN	OMIM:256850
HP:0012638	Abnormal nervous system physiology	9276	COPB2	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	55262	TRAPPC14	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	4176	MCM7	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	80254	CEP63	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	29081	METTL5	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	23310	NCAPD3	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	55755	CDK5RAP2	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	79648	MCPH1	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	23141	ANKLE2	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	259266	ASPM	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	1911	PHC1	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	6884	TAF13	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	9662	CEP135	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	55835	CENPJ	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	1021	CDK6	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	51663	ZFR	ORPHA:401840
HP:0012638	Abnormal nervous system physiology	2182	ACSL4	OMIM:300387
HP:0012638	Abnormal nervous system physiology	51075	TMX2	OMIM:618730
HP:0012638	Abnormal nervous system physiology	18	ABAT	OMIM:613163
HP:0012638	Abnormal nervous system physiology	9907	AP5Z1	ORPHA:306511
HP:0012638	Abnormal nervous system physiology	158	ADSL	OMIM:103050
HP:0012638	Abnormal nervous system physiology	10466	COG5	ORPHA:263487
HP:0012638	Abnormal nervous system physiology	10785	WDR4	OMIM:618346
HP:0012638	Abnormal nervous system physiology	6683	SPAST	ORPHA:100985
HP:0012638	Abnormal nervous system physiology	4570	MT-TN	OMIM:220110
HP:0012638	Abnormal nervous system physiology	4570	MT-TN	ORPHA:663
HP:0012638	Abnormal nervous system physiology	5393	EXOSC9	OMIM:618065
HP:0012638	Abnormal nervous system physiology	9256	TSPOAP1	ORPHA:101150
HP:0012638	Abnormal nervous system physiology	7054	TH	ORPHA:101150
HP:0012638	Abnormal nervous system physiology	4568	MT-TL2	ORPHA:663
HP:0012638	Abnormal nervous system physiology	56997	COQ8A	ORPHA:139485
HP:0012638	Abnormal nervous system physiology	1352	COX10	OMIM:619046
HP:0012638	Abnormal nervous system physiology	3035	HARS1	ORPHA:488333
HP:0012638	Abnormal nervous system physiology	2067	ERCC1	OMIM:610758
HP:0012638	Abnormal nervous system physiology	25929	GEMIN5	OMIM:619333
HP:0012638	Abnormal nervous system physiology	2660	MSTN	OMIM:614160
HP:0012638	Abnormal nervous system physiology	64834	ELOVL1	OMIM:618527
HP:0012638	Abnormal nervous system physiology	3778	KCNMA1	OMIM:609446
HP:0012638	Abnormal nervous system physiology	9377	COX5A	OMIM:619064
HP:0012638	Abnormal nervous system physiology	4697	NDUFA4	OMIM:619065
HP:0012638	Abnormal nervous system physiology	833	CARS1	OMIM:618891
HP:0012638	Abnormal nervous system physiology	1267	CNP	OMIM:619071
HP:0012638	Abnormal nervous system physiology	58494	JAM2	OMIM:618824
HP:0012638	Abnormal nervous system physiology	3615	IMPDH2	ORPHA:98808
HP:0012638	Abnormal nervous system physiology	2517	FUCA1	OMIM:230000
HP:0012638	Abnormal nervous system physiology	57863	CADM3	OMIM:619519
HP:0012638	Abnormal nervous system physiology	91461	PKDCC	OMIM:618821
HP:0012638	Abnormal nervous system physiology	90624	LYRM7	OMIM:615838
HP:0012638	Abnormal nervous system physiology	166785	MMAA	OMIM:251100
HP:0012638	Abnormal nervous system physiology	23137	SMC5	OMIM:620185
HP:0012638	Abnormal nervous system physiology	1615	DARS1	OMIM:615281
HP:0012638	Abnormal nervous system physiology	51124	IER3IP1	OMIM:614231
HP:0012638	Abnormal nervous system physiology	9474	ATG5	OMIM:617584
HP:0012638	Abnormal nervous system physiology	10531	PITRM1	OMIM:619405
HP:0012638	Abnormal nervous system physiology	54676	GTPBP2	OMIM:617988
HP:0012638	Abnormal nervous system physiology	57479	PRR12	OMIM:619539
HP:0012638	Abnormal nervous system physiology	2006	ELN	ORPHA:90348
HP:0012638	Abnormal nervous system physiology	5824	PEX19	OMIM:614886
HP:0012638	Abnormal nervous system physiology	6567	SLC16A2	ORPHA:59
HP:0012638	Abnormal nervous system physiology	587	BCAT2	OMIM:618850
HP:0012638	Abnormal nervous system physiology	51645	PPIL1	OMIM:619301
HP:0012638	Abnormal nervous system physiology	51362	CDC40	OMIM:619302
HP:0012638	Abnormal nervous system physiology	274	BIN1	ORPHA:169186
HP:0012638	Abnormal nervous system physiology	10290	SPEG	ORPHA:169186
HP:0012638	Abnormal nervous system physiology	7273	TTN	ORPHA:169186
HP:0012638	Abnormal nervous system physiology	8506	CNTNAP1	OMIM:618186
HP:0012638	Abnormal nervous system physiology	8506	CNTNAP1	OMIM:616286
HP:0012638	Abnormal nervous system physiology	112	ADCY6	OMIM:616287
HP:0012638	Abnormal nervous system physiology	2733	GLE1	OMIM:611890
HP:0012638	Abnormal nervous system physiology	19	ABCA1	OMIM:205400
HP:0012638	Abnormal nervous system physiology	19	ABCA1	ORPHA:31150
HP:0012638	Abnormal nervous system physiology	1073	CFL2	ORPHA:171436
HP:0012638	Abnormal nervous system physiology	729920	CRPPA	ORPHA:370980
HP:0012638	Abnormal nervous system physiology	50964	SOST	OMIM:122860
HP:0012638	Abnormal nervous system physiology	84894	LINGO1	OMIM:618103
HP:0012638	Abnormal nervous system physiology	472	ATM	OMIM:208900
HP:0012638	Abnormal nervous system physiology	8309	ACOX2	OMIM:617308
HP:0012638	Abnormal nervous system physiology	767	CA8	OMIM:613227
HP:0012638	Abnormal nervous system physiology	55129	ANO10	ORPHA:284289
HP:0012638	Abnormal nervous system physiology	2146	EZH2	OMIM:277590
HP:0012638	Abnormal nervous system physiology	22868	FASTKD2	OMIM:618855
HP:0012638	Abnormal nervous system physiology	401474	SAMD12	OMIM:601068
HP:0012638	Abnormal nervous system physiology	55689	YEATS2	OMIM:615127
HP:0012638	Abnormal nervous system physiology	56910	STARD7	OMIM:607876
HP:0012638	Abnormal nervous system physiology	10299	MARCHF6	OMIM:613608
HP:0012638	Abnormal nervous system physiology	10651	MTX2	OMIM:619127
HP:0012638	Abnormal nervous system physiology	7486	WRN	OMIM:277700
HP:0012638	Abnormal nervous system physiology	4193	MDM2	OMIM:618681
HP:0012638	Abnormal nervous system physiology	5424	POLD1	OMIM:615381
HP:0012638	Abnormal nervous system physiology	261734	NPHP4	OMIM:606996
HP:0012638	Abnormal nervous system physiology	261734	NPHP4	OMIM:606966
HP:0012638	Abnormal nervous system physiology	359	AQP2	OMIM:125800
HP:0012638	Abnormal nervous system physiology	359	AQP2	ORPHA:223
HP:0012638	Abnormal nervous system physiology	493856	CISD2	ORPHA:3463
HP:0012638	Abnormal nervous system physiology	554	AVPR2	ORPHA:223
HP:0012638	Abnormal nervous system physiology	554	AVPR2	OMIM:304800
HP:0012638	Abnormal nervous system physiology	4867	NPHP1	OMIM:266900
HP:0012638	Abnormal nervous system physiology	4867	NPHP1	OMIM:256100
HP:0012638	Abnormal nervous system physiology	51473	DCDC2	ORPHA:84081
HP:0012638	Abnormal nervous system physiology	10686	CLDN16	OMIM:248250
HP:0012638	Abnormal nervous system physiology	9071	CLDN10	OMIM:617671
HP:0012638	Abnormal nervous system physiology	9365	KL	OMIM:617994
HP:0012638	Abnormal nervous system physiology	551	AVP	ORPHA:30925
HP:0012638	Abnormal nervous system physiology	3643	INSR	ORPHA:769
HP:0012638	Abnormal nervous system physiology	1584	CYP11B1	ORPHA:403
HP:0012638	Abnormal nervous system physiology	1585	CYP11B2	ORPHA:403
HP:0012638	Abnormal nervous system physiology	3291	HSD11B2	ORPHA:320
HP:0012638	Abnormal nervous system physiology	3710	ITPR3	OMIM:222100
HP:0012638	Abnormal nervous system physiology	3569	IL6	OMIM:222100
HP:0012638	Abnormal nervous system physiology	6927	HNF1A	OMIM:222100
HP:0012638	Abnormal nervous system physiology	254428	SLC41A1	OMIM:619468
HP:0012638	Abnormal nervous system physiology	3758	KCNJ1	OMIM:241200
HP:0012638	Abnormal nervous system physiology	9860	LRIG2	ORPHA:2704
HP:0012638	Abnormal nervous system physiology	60495	HPSE2	ORPHA:2704
HP:0012638	Abnormal nervous system physiology	27241	BBS9	OMIM:615986
HP:0012638	Abnormal nervous system physiology	27031	NPHP3	OMIM:604387
HP:0012638	Abnormal nervous system physiology	6657	SOX2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	6658	SOX3	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	5015	OTX2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	846	CASR	OMIM:239200
HP:0012638	Abnormal nervous system physiology	6524	SLC5A2	OMIM:233100
HP:0012638	Abnormal nervous system physiology	1497	CTNS	OMIM:219800
HP:0012638	Abnormal nervous system physiology	2673	GFPT1	OMIM:608931
HP:0012638	Abnormal nervous system physiology	1145	CHRNE	OMIM:608931
HP:0012638	Abnormal nervous system physiology	1145	CHRNE	OMIM:605809
HP:0012638	Abnormal nervous system physiology	1410	CRYAB	OMIM:608810
HP:0012638	Abnormal nervous system physiology	1410	CRYAB	ORPHA:399058
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	OMIM:109150
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276238
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276244
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276241
HP:0012638	Abnormal nervous system physiology	26235	FBXL4	OMIM:615471
HP:0012638	Abnormal nervous system physiology	1144	CHRND	OMIM:616321
HP:0012638	Abnormal nervous system physiology	1144	CHRND	OMIM:616323
HP:0012638	Abnormal nervous system physiology	23446	SLC44A1	OMIM:618868
HP:0012638	Abnormal nervous system physiology	4593	MUSK	OMIM:616325
HP:0012638	Abnormal nervous system physiology	1134	CHRNA1	OMIM:608930
HP:0012638	Abnormal nervous system physiology	1134	CHRNA1	OMIM:601462
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	ORPHA:247604
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	ORPHA:280384
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	ORPHA:209951
HP:0012638	Abnormal nervous system physiology	9499	MYOT	ORPHA:266
HP:0012638	Abnormal nervous system physiology	5339	PLEC	ORPHA:254361
HP:0012638	Abnormal nervous system physiology	6687	SPG7	ORPHA:99013
HP:0012638	Abnormal nervous system physiology	6687	SPG7	OMIM:607259
HP:0012638	Abnormal nervous system physiology	6687	SPG7	ORPHA:35689
HP:0012638	Abnormal nervous system physiology	8291	DYSF	ORPHA:268
HP:0012638	Abnormal nervous system physiology	4312	MMP1	ORPHA:79408
HP:0012638	Abnormal nervous system physiology	4312	MMP1	OMIM:226600
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	ORPHA:79408
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	OMIM:226600
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	ORPHA:89842
HP:0012638	Abnormal nervous system physiology	79577	CDC73	ORPHA:143
HP:0012638	Abnormal nervous system physiology	79577	CDC73	ORPHA:99880
HP:0012638	Abnormal nervous system physiology	65993	MRPS34	OMIM:617664
HP:0012638	Abnormal nervous system physiology	10528	NOP56	OMIM:614153
HP:0012638	Abnormal nervous system physiology	10528	NOP56	ORPHA:276198
HP:0012638	Abnormal nervous system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012638	Abnormal nervous system physiology	1841	DTYMK	OMIM:619847
HP:0012638	Abnormal nervous system physiology	790	CAD	OMIM:616457
HP:0012638	Abnormal nervous system physiology	84466	MEGF10	OMIM:614399
HP:0012638	Abnormal nervous system physiology	51112	TRAPPC12	OMIM:617669
HP:0012638	Abnormal nervous system physiology	51112	TRAPPC12	ORPHA:500144
HP:0012638	Abnormal nervous system physiology	3908	LAMA2	ORPHA:258
HP:0012638	Abnormal nervous system physiology	5189	PEX1	OMIM:214100
HP:0012638	Abnormal nervous system physiology	1890	TYMP	ORPHA:298
HP:0012638	Abnormal nervous system physiology	1890	TYMP	OMIM:603041
HP:0012638	Abnormal nervous system physiology	3980	LIG3	ORPHA:298
HP:0012638	Abnormal nervous system physiology	3980	LIG3	OMIM:619780
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	ORPHA:298
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	OMIM:613077
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	ORPHA:329336
HP:0012638	Abnormal nervous system physiology	79147	FKRP	OMIM:606612
HP:0012638	Abnormal nervous system physiology	348	APOE	OMIM:607822
HP:0012638	Abnormal nervous system physiology	5663	PSEN1	OMIM:607822
HP:0012638	Abnormal nervous system physiology	215	ABCD1	ORPHA:139396
HP:0012638	Abnormal nervous system physiology	7343	UBTF	OMIM:617672
HP:0012638	Abnormal nervous system physiology	7343	UBTF	ORPHA:500180
HP:0012638	Abnormal nervous system physiology	10939	AFG3L2	ORPHA:313772
HP:0012638	Abnormal nervous system physiology	10939	AFG3L2	OMIM:614487
HP:0012638	Abnormal nervous system physiology	83480	PUS3	ORPHA:488627
HP:0012638	Abnormal nervous system physiology	5621	PRNP	OMIM:600072
HP:0012638	Abnormal nervous system physiology	10049	DNAJB6	ORPHA:34516
HP:0012638	Abnormal nervous system physiology	10049	DNAJB6	OMIM:603511
HP:0012638	Abnormal nervous system physiology	4620	MYH2	OMIM:605637
HP:0012638	Abnormal nervous system physiology	857	CAV1	OMIM:606721
HP:0012638	Abnormal nervous system physiology	857	CAV1	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	857	CAV1	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	10935	PRDX3	OMIM:619862
HP:0012638	Abnormal nervous system physiology	4297	KMT2A	ORPHA:319182
HP:0012638	Abnormal nervous system physiology	246243	RNASEH1	OMIM:616479
HP:0012638	Abnormal nervous system physiology	246243	RNASEH1	ORPHA:329336
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:280195
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2783	GNB2	OMIM:619503
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	23007	PLCH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	10735	STAG2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	10735	STAG2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	950	SCARB2	OMIM:254900
HP:0012638	Abnormal nervous system physiology	9897	WASHC5	OMIM:603563
HP:0012638	Abnormal nervous system physiology	8622	PDE8B	ORPHA:228169
HP:0012638	Abnormal nervous system physiology	253738	EBF3	OMIM:617330
HP:0012638	Abnormal nervous system physiology	3572	IL6ST	OMIM:619751
HP:0012638	Abnormal nervous system physiology	2911	GRM1	OMIM:617691
HP:0012638	Abnormal nervous system physiology	55773	TBC1D23	OMIM:617695
HP:0012638	Abnormal nervous system physiology	23259	DDHD2	OMIM:615033
HP:0012638	Abnormal nervous system physiology	23259	DDHD2	ORPHA:320380
HP:0012638	Abnormal nervous system physiology	54902	TTC19	OMIM:615157
HP:0012638	Abnormal nervous system physiology	5590	PRKCZ	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	2563	GABRD	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	23013	SPEN	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	23013	SPEN	OMIM:619312
HP:0012638	Abnormal nervous system physiology	8510	MMP23B	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	7798	LUZP1	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	6497	SKI	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	10630	PDPN	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	3339	HSPG2	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	10277	UBE4B	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	8514	KCNAB2	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	473	RERE	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	473	RERE	ORPHA:494344
HP:0012638	Abnormal nervous system physiology	63976	PRDM16	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	54897	CASZ1	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	8659	ALDH4A1	ORPHA:79101
HP:0012638	Abnormal nervous system physiology	1180	CLCN1	OMIM:255700
HP:0012638	Abnormal nervous system physiology	5860	QDPR	ORPHA:226
HP:0012638	Abnormal nervous system physiology	5860	QDPR	OMIM:261630
HP:0012638	Abnormal nervous system physiology	56947	MFF	ORPHA:485421
HP:0012638	Abnormal nervous system physiology	56947	MFF	OMIM:617086
HP:0012638	Abnormal nervous system physiology	57462	MYORG	OMIM:618317
HP:0012638	Abnormal nervous system physiology	9562	MINPP1	OMIM:619527
HP:0012638	Abnormal nervous system physiology	23314	SATB2	ORPHA:576283
HP:0012638	Abnormal nervous system physiology	4626	MYH8	OMIM:158300
HP:0012638	Abnormal nervous system physiology	57724	EPG5	OMIM:242840
HP:0012638	Abnormal nervous system physiology	1436	CSF1R	OMIM:221820
HP:0012638	Abnormal nervous system physiology	55612	FERMT1	ORPHA:2908
HP:0012638	Abnormal nervous system physiology	55612	FERMT1	OMIM:173650
HP:0012638	Abnormal nervous system physiology	4123	MAN2C1	OMIM:619775
HP:0012638	Abnormal nervous system physiology	3798	KIF5A	OMIM:617235
HP:0012638	Abnormal nervous system physiology	339855	KY	OMIM:617114
HP:0012638	Abnormal nervous system physiology	339855	KY	ORPHA:496689
HP:0012638	Abnormal nervous system physiology	79977	GRHL2	OMIM:616029
HP:0012638	Abnormal nervous system physiology	7994	KAT6A	OMIM:616268
HP:0012638	Abnormal nervous system physiology	23499	MACF1	OMIM:618325
HP:0012638	Abnormal nervous system physiology	23499	MACF1	ORPHA:572013
HP:0012638	Abnormal nervous system physiology	23219	FBXO28	OMIM:619777
HP:0012638	Abnormal nervous system physiology	2055	CLN8	ORPHA:1947
HP:0012638	Abnormal nervous system physiology	5837	PYGM	ORPHA:368
HP:0012638	Abnormal nervous system physiology	10533	ATG7	OMIM:619422
HP:0012638	Abnormal nervous system physiology	51117	COQ4	OMIM:616276
HP:0012638	Abnormal nervous system physiology	120	ADD3	OMIM:617008
HP:0012638	Abnormal nervous system physiology	27429	HTRA2	OMIM:617248
HP:0012638	Abnormal nervous system physiology	5081	PAX7	OMIM:618578
HP:0012638	Abnormal nervous system physiology	1674	DES	OMIM:181400
HP:0012638	Abnormal nervous system physiology	79751	SLC25A22	ORPHA:1935
HP:0012638	Abnormal nervous system physiology	150094	SIK1	ORPHA:1935
HP:0012638	Abnormal nervous system physiology	389827	MYMK	OMIM:254940
HP:0012638	Abnormal nervous system physiology	291	SLC25A4	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	11232	POLG2	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	4487	MSX1	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	5818	NECTIN1	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	8626	TP63	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	3664	IRF6	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	353116	RILPL1	OMIM:619790
HP:0012638	Abnormal nervous system physiology	23111	SPART	OMIM:275900
HP:0012638	Abnormal nervous system physiology	23111	SPART	ORPHA:101000
HP:0012638	Abnormal nervous system physiology	1499	CTNNB1	OMIM:615075
HP:0012638	Abnormal nervous system physiology	56896	DPYSL5	OMIM:619435
HP:0012638	Abnormal nervous system physiology	54892	NCAPG2	OMIM:618460
HP:0012638	Abnormal nervous system physiology	1859	DYRK1A	ORPHA:268261
HP:0012638	Abnormal nervous system physiology	79912	PYROXD1	OMIM:617258
HP:0012638	Abnormal nervous system physiology	4719	NDUFS1	OMIM:618226
HP:0012638	Abnormal nervous system physiology	1235	CCR6	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	1235	CCR6	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	79932	KIAA0319L	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	1490	CCN2	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	1490	CCN2	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	3663	IRF5	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	3663	IRF5	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	3123	HLA-DRB1	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	170302	ARX	OMIM:308350
HP:0012638	Abnormal nervous system physiology	91942	NDUFAF2	OMIM:618233
HP:0012638	Abnormal nervous system physiology	7084	TK2	ORPHA:254886
HP:0012638	Abnormal nervous system physiology	7084	TK2	ORPHA:254875
HP:0012638	Abnormal nervous system physiology	7084	TK2	OMIM:617069
HP:0012638	Abnormal nervous system physiology	81790	RNF170	OMIM:619686
HP:0012638	Abnormal nervous system physiology	84909	AOPEP	OMIM:619565
HP:0012638	Abnormal nervous system physiology	25814	ATXN10	OMIM:603516
HP:0012638	Abnormal nervous system physiology	10300	KATNB1	ORPHA:89844
HP:0012638	Abnormal nervous system physiology	54820	NDE1	ORPHA:89844
HP:0012638	Abnormal nervous system physiology	3930	LBR	ORPHA:779
HP:0012638	Abnormal nervous system physiology	710	SERPING1	ORPHA:100050
HP:0012638	Abnormal nervous system physiology	387119	CEP85L	ORPHA:572013
HP:0012638	Abnormal nervous system physiology	6904	TBCD	ORPHA:496641
HP:0012638	Abnormal nervous system physiology	427	ASAH1	OMIM:159950
HP:0012638	Abnormal nervous system physiology	427	ASAH1	ORPHA:2590
HP:0012638	Abnormal nervous system physiology	10059	DNM1L	ORPHA:98673
HP:0012638	Abnormal nervous system physiology	4976	OPA1	ORPHA:98673
HP:0012638	Abnormal nervous system physiology	4976	OPA1	OMIM:210000
HP:0012638	Abnormal nervous system physiology	5980	REV3L	ORPHA:570
HP:0012638	Abnormal nervous system physiology	23129	PLXND1	ORPHA:570
HP:0012638	Abnormal nervous system physiology	351	APP	ORPHA:324708
HP:0012638	Abnormal nervous system physiology	56915	EXOSC5	OMIM:619576
HP:0012638	Abnormal nervous system physiology	51132	RLIM	OMIM:300978
HP:0012638	Abnormal nervous system physiology	4704	NDUFA9	OMIM:618247
HP:0012638	Abnormal nervous system physiology	29978	UBQLN2	OMIM:300857
HP:0012638	Abnormal nervous system physiology	8260	NAA10	OMIM:300855
HP:0012638	Abnormal nervous system physiology	182	JAG1	OMIM:619574
HP:0012638	Abnormal nervous system physiology	54834	GDAP2	OMIM:618369
HP:0012638	Abnormal nervous system physiology	1201	CLN3	ORPHA:228346
HP:0012638	Abnormal nervous system physiology	4864	NPC1	OMIM:257220
HP:0012638	Abnormal nervous system physiology	5277	PIGA	ORPHA:447
HP:0012638	Abnormal nervous system physiology	2131	EXT1	ORPHA:321
HP:0012638	Abnormal nervous system physiology	2132	EXT2	ORPHA:321
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:684
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:99735
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:99736
HP:0012638	Abnormal nervous system physiology	22827	PUF60	ORPHA:508488
HP:0012638	Abnormal nervous system physiology	51102	MECR	OMIM:617282
HP:0012638	Abnormal nervous system physiology	51102	MECR	ORPHA:508093
HP:0012638	Abnormal nervous system physiology	5631	PRPS1	OMIM:301835
HP:0012638	Abnormal nervous system physiology	3977	LIFR	OMIM:601559
HP:0012638	Abnormal nervous system physiology	2906	GRIN2D	OMIM:617162
HP:0012638	Abnormal nervous system physiology	146206	CARMIL2	OMIM:618131
HP:0012638	Abnormal nervous system physiology	2705	GJB1	OMIM:302800
HP:0012638	Abnormal nervous system physiology	4700	NDUFA6	OMIM:618253
HP:0012638	Abnormal nervous system physiology	51305	KCNK9	ORPHA:166108
HP:0012638	Abnormal nervous system physiology	51305	KCNK9	OMIM:612292
HP:0012638	Abnormal nervous system physiology	1200	TPP1	OMIM:609270
HP:0012638	Abnormal nervous system physiology	220296	HEPACAM	OMIM:613925
HP:0012638	Abnormal nervous system physiology	26040	SETBP1	ORPHA:798
HP:0012638	Abnormal nervous system physiology	4629	MYH11	OMIM:619350
HP:0012638	Abnormal nervous system physiology	6390	SDHB	ORPHA:97286
HP:0012638	Abnormal nervous system physiology	6390	SDHB	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	6390	SDHB	OMIM:606764
HP:0012638	Abnormal nervous system physiology	6391	SDHC	ORPHA:97286
HP:0012638	Abnormal nervous system physiology	6391	SDHC	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	6391	SDHC	OMIM:606764
HP:0012638	Abnormal nervous system physiology	6392	SDHD	ORPHA:97286
HP:0012638	Abnormal nervous system physiology	55975	KLHL7	OMIM:617055
HP:0012638	Abnormal nervous system physiology	55697	VAC14	OMIM:617054
HP:0012638	Abnormal nervous system physiology	10526	IPO8	OMIM:619472
HP:0012638	Abnormal nervous system physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0012638	Abnormal nervous system physiology	2318	FLNC	ORPHA:63273
HP:0012638	Abnormal nervous system physiology	283446	MYO1H	OMIM:619482
HP:0012638	Abnormal nervous system physiology	7204	TRIO	OMIM:617061
HP:0012638	Abnormal nervous system physiology	8567	MADD	OMIM:619004
HP:0012638	Abnormal nervous system physiology	29123	ANKRD11	ORPHA:261250
HP:0012638	Abnormal nervous system physiology	1893	ECM1	ORPHA:530
HP:0012638	Abnormal nervous system physiology	1716	DGUOK	OMIM:617070
HP:0012638	Abnormal nervous system physiology	1716	DGUOK	ORPHA:329314
HP:0012638	Abnormal nervous system physiology	72	ACTG2	OMIM:155310
HP:0012638	Abnormal nervous system physiology	6389	SDHA	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	5156	PDGFRA	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	3815	KIT	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	3815	KIT	OMIM:606764
HP:0012638	Abnormal nervous system physiology	1984	EIF5A	OMIM:619376
HP:0012638	Abnormal nervous system physiology	10273	STUB1	ORPHA:412057
HP:0012638	Abnormal nervous system physiology	10273	STUB1	OMIM:618093
HP:0012638	Abnormal nervous system physiology	79651	RHBDF2	ORPHA:2198
HP:0012638	Abnormal nervous system physiology	138050	HGSNAT	OMIM:252930
HP:0012638	Abnormal nervous system physiology	84081	NSRP1	OMIM:620001
HP:0012638	Abnormal nervous system physiology	5216	PFN1	OMIM:614808
HP:0012638	Abnormal nervous system physiology	4914	NTRK1	ORPHA:642
HP:0012638	Abnormal nervous system physiology	64432	MRPS25	OMIM:619025
HP:0012638	Abnormal nervous system physiology	84842	HPDL	OMIM:619027
HP:0012638	Abnormal nervous system physiology	2747	GLUD2	OMIM:168600
HP:0012638	Abnormal nervous system physiology	126	ADH1C	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6908	TBP	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6908	TBP	OMIM:607136
HP:0012638	Abnormal nervous system physiology	4576	MT-TT	OMIM:168600
HP:0012638	Abnormal nervous system physiology	9627	SNCAIP	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6311	ATXN2	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6311	ATXN2	OMIM:183090
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	ORPHA:98760
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	OMIM:608768
HP:0012638	Abnormal nervous system physiology	4771	NF2	ORPHA:637
HP:0012638	Abnormal nervous system physiology	6622	SNCA	OMIM:168601
HP:0012638	Abnormal nervous system physiology	6622	SNCA	ORPHA:171695
HP:0012638	Abnormal nervous system physiology	6622	SNCA	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	5605	MAP2K2	ORPHA:638
HP:0012638	Abnormal nervous system physiology	4763	NF1	ORPHA:638
HP:0012638	Abnormal nervous system physiology	10128	LRPPRC	OMIM:220111
HP:0012638	Abnormal nervous system physiology	10128	LRPPRC	ORPHA:70472
HP:0012638	Abnormal nervous system physiology	80308	FLAD1	OMIM:255100
HP:0012638	Abnormal nervous system physiology	775	CACNA1C	OMIM:620029
HP:0012638	Abnormal nervous system physiology	5111	PCNA	OMIM:615919
HP:0012638	Abnormal nervous system physiology	4758	NEU1	ORPHA:93399
HP:0012638	Abnormal nervous system physiology	79581	SLC52A2	OMIM:614707
HP:0012638	Abnormal nervous system physiology	4281	MID1	OMIM:300000
HP:0012638	Abnormal nervous system physiology	4281	MID1	ORPHA:2745
HP:0012638	Abnormal nervous system physiology	131377	KLHL40	ORPHA:171430
HP:0012638	Abnormal nervous system physiology	131377	KLHL40	OMIM:615348
HP:0012638	Abnormal nervous system physiology	56203	LMOD3	ORPHA:171430
HP:0012638	Abnormal nervous system physiology	4010	LMX1B	ORPHA:495818
HP:0012638	Abnormal nervous system physiology	6812	STXBP1	ORPHA:495818
HP:0012638	Abnormal nervous system physiology	271	AMPD2	OMIM:615809
HP:0012638	Abnormal nervous system physiology	3119	HLA-DQB1	ORPHA:930
HP:0012638	Abnormal nervous system physiology	9244	CRLF1	ORPHA:930
HP:0012638	Abnormal nervous system physiology	3117	HLA-DQA1	ORPHA:930
HP:0012638	Abnormal nervous system physiology	4842	NOS1	ORPHA:930
HP:0012638	Abnormal nervous system physiology	7298	TYMS	OMIM:620040
HP:0012638	Abnormal nervous system physiology	2483	FRG1	OMIM:158900
HP:0012638	Abnormal nervous system physiology	64207	IRF2BPL	OMIM:618088
HP:0012638	Abnormal nervous system physiology	146862	UNC45B	OMIM:619178
HP:0012638	Abnormal nervous system physiology	5119	CHMP1A	OMIM:614961
HP:0012638	Abnormal nervous system physiology	23522	KAT6B	OMIM:606170
HP:0012638	Abnormal nervous system physiology	29967	LRP12	OMIM:164310
HP:0012638	Abnormal nervous system physiology	9570	GOSR2	OMIM:620166
HP:0012638	Abnormal nervous system physiology	2332	FMR1	ORPHA:93256
HP:0012638	Abnormal nervous system physiology	7466	WFS1	OMIM:222300
HP:0012638	Abnormal nervous system physiology	26278	SACS	ORPHA:98
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	ORPHA:261552
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	ORPHA:261537
HP:0012638	Abnormal nervous system physiology	57190	SELENON	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	4633	MYL2	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	3679	ITGA7	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	9200	HACD1	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	51776	MAP3K20	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	7156	TOP3A	OMIM:618098
HP:0012638	Abnormal nervous system physiology	1641	DCX	ORPHA:2148
HP:0012638	Abnormal nervous system physiology	60	ACTB	OMIM:607371
HP:0012638	Abnormal nervous system physiology	60	ACTB	ORPHA:79107
HP:0012638	Abnormal nervous system physiology	1600	DAB1	OMIM:615945
HP:0012638	Abnormal nervous system physiology	55636	CHD7	OMIM:214800
HP:0012638	Abnormal nervous system physiology	113278	SLC52A3	OMIM:211530
HP:0012638	Abnormal nervous system physiology	113278	SLC52A3	OMIM:211500
HP:0012638	Abnormal nervous system physiology	2395	FXN	ORPHA:95
HP:0012638	Abnormal nervous system physiology	23533	PIK3R5	ORPHA:64753
HP:0012638	Abnormal nervous system physiology	23064	SETX	ORPHA:64753
HP:0012638	Abnormal nervous system physiology	23064	SETX	OMIM:606002
HP:0012638	Abnormal nervous system physiology	3211	HOXB1	OMIM:614744
HP:0012638	Abnormal nervous system physiology	146057	TTBK2	ORPHA:98767
HP:0012638	Abnormal nervous system physiology	3748	KCNC3	ORPHA:98768
HP:0012638	Abnormal nervous system physiology	9289	ADGRG1	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	5297	PI4KA	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	5297	PI4KA	OMIM:619708
HP:0012638	Abnormal nervous system physiology	27286	SRPX2	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	92667	MGME1	ORPHA:352447
HP:0012638	Abnormal nervous system physiology	6558	SLC12A2	OMIM:619083
HP:0012638	Abnormal nervous system physiology	724066	ATXN8	ORPHA:98760
HP:0012638	Abnormal nervous system physiology	724066	ATXN8	OMIM:608768
HP:0012638	Abnormal nervous system physiology	492	ATP2B3	OMIM:302500
HP:0012638	Abnormal nervous system physiology	3251	HPRT1	OMIM:300322
HP:0012638	Abnormal nervous system physiology	3208	HPCA	OMIM:224500
HP:0012638	Abnormal nervous system physiology	255928	SYT14	ORPHA:284271
HP:0012638	Abnormal nervous system physiology	255928	SYT14	OMIM:614229
HP:0012638	Abnormal nervous system physiology	9409	PEX16	OMIM:614877
HP:0012638	Abnormal nervous system physiology	9440	MED17	OMIM:613668
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	2255	FGF10	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	7443	VRK1	OMIM:607596
HP:0012638	Abnormal nervous system physiology	8106	PABPN1	OMIM:164300
HP:0012638	Abnormal nervous system physiology	8314	BAP1	ORPHA:50251
HP:0012638	Abnormal nervous system physiology	10133	OPTN	OMIM:613435
HP:0012638	Abnormal nervous system physiology	50628	GEMIN4	OMIM:617913
HP:0012638	Abnormal nervous system physiology	91574	MTRFR	OMIM:613559
HP:0012638	Abnormal nervous system physiology	85021	REPS1	OMIM:617916
HP:0012638	Abnormal nervous system physiology	3752	KCND3	OMIM:607346
HP:0012638	Abnormal nervous system physiology	6509	SLC1A4	ORPHA:447997
HP:0012638	Abnormal nervous system physiology	6314	ATXN7	ORPHA:94147
HP:0012638	Abnormal nervous system physiology	6314	ATXN7	OMIM:164500
HP:0012638	Abnormal nervous system physiology	2776	GNAQ	ORPHA:3205
HP:0012638	Abnormal nervous system physiology	25793	FBXO7	ORPHA:171695
HP:0012638	Abnormal nervous system physiology	51067	YARS2	OMIM:613561
HP:0012638	Abnormal nervous system physiology	80199	FUZ	ORPHA:1136
HP:0012638	Abnormal nervous system physiology	7407	VARS1	OMIM:617802
HP:0012638	Abnormal nervous system physiology	284119	CAVIN1	OMIM:613327
HP:0012638	Abnormal nervous system physiology	23534	TNPO3	OMIM:608423
HP:0012638	Abnormal nervous system physiology	54704	PDP1	OMIM:608782
HP:0012638	Abnormal nervous system physiology	1288	COL4A6	ORPHA:1018
HP:0012638	Abnormal nervous system physiology	1287	COL4A5	ORPHA:1018
HP:0012638	Abnormal nervous system physiology	55906	ZC4H2	OMIM:301041
HP:0012638	Abnormal nervous system physiology	2982	GUCY1A1	OMIM:615750
HP:0012638	Abnormal nervous system physiology	29926	GMPPA	OMIM:615510
HP:0012638	Abnormal nervous system physiology	23394	ADNP	OMIM:615873
HP:0012638	Abnormal nervous system physiology	57704	GBA2	ORPHA:352641
HP:0012638	Abnormal nervous system physiology	79848	CSPP1	OMIM:615636
HP:0012638	Abnormal nervous system physiology	6328	SCN3A	OMIM:617938
HP:0012638	Abnormal nervous system physiology	2782	GNB1	OMIM:616973
HP:0012638	Abnormal nervous system physiology	79644	SRD5A3	OMIM:612379
HP:0012638	Abnormal nervous system physiology	3106	HLA-B	ORPHA:36426
HP:0012638	Abnormal nervous system physiology	10320	IKZF1	ORPHA:36426
HP:0012638	Abnormal nervous system physiology	27235	COQ2	OMIM:607426
HP:0012638	Abnormal nervous system physiology	8867	SYNJ1	OMIM:615530
HP:0012638	Abnormal nervous system physiology	2058	EPRS1	OMIM:617951
HP:0012638	Abnormal nervous system physiology	23317	DNAJC13	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	1981	EIF4G1	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	55737	VPS35	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	120892	LRRK2	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	26058	GIGYF2	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	51008	ASCC1	OMIM:616867
HP:0012638	Abnormal nervous system physiology	2917	GRM7	OMIM:618922
HP:0012638	Abnormal nervous system physiology	9325	TRIP4	OMIM:616866
HP:0012638	Abnormal nervous system physiology	311	ANXA11	OMIM:617839
HP:0012638	Abnormal nervous system physiology	128989	TANGO2	ORPHA:480864
HP:0012638	Abnormal nervous system physiology	5582	PRKCG	OMIM:605361
HP:0012638	Abnormal nervous system physiology	3418	IDH2	ORPHA:163634
HP:0012638	Abnormal nervous system physiology	3417	IDH1	ORPHA:163634
HP:0012638	Abnormal nervous system physiology	538	ATP7A	ORPHA:198
HP:0012638	Abnormal nervous system physiology	79784	MYH14	ORPHA:397744
HP:0012638	Abnormal nervous system physiology	84617	TUBB6	OMIM:617732
HP:0012638	Abnormal nervous system physiology	25915	NDUFAF3	ORPHA:70474
HP:0012638	Abnormal nervous system physiology	4714	NDUFB8	ORPHA:70474
HP:0012638	Abnormal nervous system physiology	4720	NDUFS2	ORPHA:70474
HP:0012638	Abnormal nervous system physiology	9997	SCO2	ORPHA:70474
HP:0012638	Abnormal nervous system physiology	6834	SURF1	ORPHA:70474
HP:0012638	Abnormal nervous system physiology	23556	PIGN	ORPHA:280633
HP:0012638	Abnormal nervous system physiology	122553	TRAPPC6B	OMIM:617862
HP:0012638	Abnormal nervous system physiology	28957	MRPS28	OMIM:618958
HP:0012638	Abnormal nervous system physiology	8292	COLQ	ORPHA:98915
HP:0012638	Abnormal nervous system physiology	8292	COLQ	OMIM:603034
HP:0012638	Abnormal nervous system physiology	3913	LAMB2	ORPHA:98915
HP:0012638	Abnormal nervous system physiology	51	ACOX1	OMIM:264470
HP:0012638	Abnormal nervous system physiology	51	ACOX1	OMIM:618960
HP:0012638	Abnormal nervous system physiology	10577	NPC2	OMIM:607625
HP:0012638	Abnormal nervous system physiology	8913	CACNA1G	ORPHA:458803
HP:0012638	Abnormal nervous system physiology	8913	CACNA1G	OMIM:616795
HP:0012638	Abnormal nervous system physiology	6651	SON	ORPHA:500150
HP:0012638	Abnormal nervous system physiology	22943	DKK1	ORPHA:268882
HP:0012638	Abnormal nervous system physiology	57731	SPTBN4	OMIM:617519
HP:0012638	Abnormal nervous system physiology	4359	MPZ	OMIM:607736
HP:0012638	Abnormal nervous system physiology	4747	NEFL	OMIM:607734
HP:0012638	Abnormal nervous system physiology	367	AR	OMIM:313200
HP:0012638	Abnormal nervous system physiology	5630	PRPH	OMIM:105400
HP:0012638	Abnormal nervous system physiology	1639	DCTN1	OMIM:105400
HP:0012638	Abnormal nervous system physiology	4744	NEFH	OMIM:105400
HP:0012638	Abnormal nervous system physiology	9338	TCEAL1	OMIM:301094
HP:0012638	Abnormal nervous system physiology	4141	MARS1	ORPHA:401835
HP:0012638	Abnormal nervous system physiology	51763	INPP5K	OMIM:617404
HP:0012638	Abnormal nervous system physiology	324	APC	ORPHA:261584
HP:0012638	Abnormal nervous system physiology	57599	WDR48	ORPHA:401800
HP:0012638	Abnormal nervous system physiology	340075	ARSI	ORPHA:401815
HP:0012638	Abnormal nervous system physiology	3739	KCNA4	OMIM:618284
HP:0012638	Abnormal nervous system physiology	51308	REEP2	ORPHA:401849
HP:0012638	Abnormal nervous system physiology	51308	REEP2	OMIM:615625
HP:0012638	Abnormal nervous system physiology	64374	SIL1	OMIM:248800
HP:0012638	Abnormal nervous system physiology	8450	CUL4B	OMIM:300354
HP:0012638	Abnormal nervous system physiology	23646	PLD3	OMIM:617770
HP:0012638	Abnormal nervous system physiology	823	CAPN1	OMIM:616907
HP:0012638	Abnormal nervous system physiology	823	CAPN1	ORPHA:488594
HP:0012638	Abnormal nervous system physiology	9711	RUBCN	OMIM:615705
HP:0012638	Abnormal nervous system physiology	9711	RUBCN	ORPHA:404499
HP:0012638	Abnormal nervous system physiology	3475	IFRD1	ORPHA:98771
HP:0012638	Abnormal nervous system physiology	1938	EEF2	OMIM:609306
HP:0012638	Abnormal nervous system physiology	60481	ELOVL5	OMIM:615957
HP:0012638	Abnormal nervous system physiology	60481	ELOVL5	ORPHA:423296
HP:0012638	Abnormal nervous system physiology	7222	TRPC3	ORPHA:458798
HP:0012638	Abnormal nervous system physiology	7222	TRPC3	OMIM:616410
HP:0012638	Abnormal nervous system physiology	9922	IQSEC1	OMIM:618687
HP:0012638	Abnormal nervous system physiology	27077	B9D1	OMIM:617120
HP:0012638	Abnormal nervous system physiology	57716	PRX	OMIM:614895
HP:0012638	Abnormal nervous system physiology	9230	RAB11B	OMIM:617807
HP:0012638	Abnormal nervous system physiology	57102	C12orf4	OMIM:618221
HP:0012638	Abnormal nervous system physiology	10765	KDM5B	OMIM:618109
HP:0012638	Abnormal nervous system physiology	5994	RFXAP	ORPHA:572
HP:0012638	Abnormal nervous system physiology	4261	CIITA	ORPHA:572
HP:0012638	Abnormal nervous system physiology	5993	RFX5	ORPHA:572
HP:0012638	Abnormal nervous system physiology	8625	RFXANK	ORPHA:572
HP:0012638	Abnormal nervous system physiology	28982	FLVCR1	ORPHA:88628
HP:0012638	Abnormal nervous system physiology	1181	CLCN2	OMIM:615651
HP:0012638	Abnormal nervous system physiology	54974	THG1L	OMIM:618800
HP:0012638	Abnormal nervous system physiology	20	ABCA2	OMIM:618808
HP:0012638	Abnormal nervous system physiology	372	ARCN1	OMIM:617164
HP:0012638	Abnormal nervous system physiology	65260	COA7	OMIM:618387
HP:0012638	Abnormal nervous system physiology	9516	LITAF	OMIM:601098
HP:0012638	Abnormal nervous system physiology	81615	TMEM163	OMIM:620243
HP:0012638	Abnormal nervous system physiology	1795	DOCK3	OMIM:618292
HP:0012638	Abnormal nervous system physiology	129285	PPP1R21	OMIM:619383
HP:0012638	Abnormal nervous system physiology	2196	FAT2	OMIM:617769
HP:0012638	Abnormal nervous system physiology	7384	UQCRC1	OMIM:619279
HP:0012638	Abnormal nervous system physiology	55532	SLC30A10	ORPHA:309854
HP:0012638	Abnormal nervous system physiology	55532	SLC30A10	OMIM:613280
HP:0012638	Abnormal nervous system physiology	56521	DNAJC12	OMIM:617384
HP:0012638	Abnormal nervous system physiology	27102	EIF2AK1	OMIM:618878
HP:0012638	Abnormal nervous system physiology	100303755	PET117	OMIM:619063
HP:0012638	Abnormal nervous system physiology	124454	EARS2	OMIM:614924
HP:0012638	Abnormal nervous system physiology	81555	YIPF5	OMIM:619278
HP:0012638	Abnormal nervous system physiology	2997	GYS1	OMIM:611556
HP:0012638	Abnormal nervous system physiology	55733	HHAT	OMIM:600092
HP:0012638	Abnormal nervous system physiology	24137	KIF4A	OMIM:300923
HP:0012638	Abnormal nervous system physiology	54982	CLN6	OMIM:204300
HP:0012638	Abnormal nervous system physiology	10565	ARFGEF1	OMIM:619964
HP:0012638	Abnormal nervous system physiology	9915	ARNT2	OMIM:615926
HP:0012638	Abnormal nervous system physiology	4519	MT-CYB	OMIM:540000
HP:0012638	Abnormal nervous system physiology	4511	MT-TC	OMIM:540000
HP:0012638	Abnormal nervous system physiology	84992	PIGY	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	84720	PIGO	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	93210	PGAP3	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	93210	PGAP3	OMIM:615716
HP:0012638	Abnormal nervous system physiology	284098	PIGW	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	27315	PGAP2	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	27315	PGAP2	OMIM:614207
HP:0012638	Abnormal nervous system physiology	55650	PIGV	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	9487	PIGL	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	9487	PIGL	OMIM:280000
HP:0012638	Abnormal nervous system physiology	79029	AFG2B	OMIM:619616
HP:0012638	Abnormal nervous system physiology	80856	LNPK	OMIM:618090
HP:0012638	Abnormal nervous system physiology	10087	CERT1	OMIM:616351
HP:0012638	Abnormal nervous system physiology	10715	CERS1	OMIM:616230
HP:0012638	Abnormal nervous system physiology	4338	MOCS2	OMIM:252160
HP:0012638	Abnormal nervous system physiology	124512	METTL23	OMIM:615942
HP:0012638	Abnormal nervous system physiology	610	HCN2	OMIM:602477
HP:0012638	Abnormal nervous system physiology	84138	SLC7A6OS	OMIM:619191
HP:0012638	Abnormal nervous system physiology	9895	TECPR2	OMIM:615031
HP:0012638	Abnormal nervous system physiology	9354	UBE4A	OMIM:619639
HP:0012638	Abnormal nervous system physiology	116115	ZNF526	OMIM:619877
HP:0012638	Abnormal nervous system physiology	83475	DOHH	OMIM:620066
HP:0012638	Abnormal nervous system physiology	51611	DPH5	OMIM:620070
HP:0012638	Abnormal nervous system physiology	728294	D2HGDH	OMIM:600721
HP:0012638	Abnormal nervous system physiology	25828	TXN2	ORPHA:478029
HP:0012638	Abnormal nervous system physiology	163175	LGI4	OMIM:617468
HP:0012638	Abnormal nervous system physiology	9772	TMEM94	OMIM:618316
HP:0012638	Abnormal nervous system physiology	7846	TUBA1A	ORPHA:171680
HP:0012638	Abnormal nervous system physiology	7846	TUBA1A	OMIM:611603
HP:0012638	Abnormal nervous system physiology	34	ACADM	ORPHA:42
HP:0012638	Abnormal nervous system physiology	8218	CLTCL1	ORPHA:453510
HP:0012638	Abnormal nervous system physiology	2742	GLRA2	OMIM:301076
HP:0012638	Abnormal nervous system physiology	80331	DNAJC5	OMIM:162350
HP:0012638	Abnormal nervous system physiology	22858	CILK1	OMIM:617924
HP:0012638	Abnormal nervous system physiology	57094	CPA6	OMIM:614417
HP:0012638	Abnormal nervous system physiology	57094	CPA6	OMIM:614418
HP:0012638	Abnormal nervous system physiology	4967	OGDH	OMIM:203740
HP:0012638	Abnormal nervous system physiology	51807	TUBA8	ORPHA:250972
HP:0012638	Abnormal nervous system physiology	6096	RORB	OMIM:618357
HP:0012638	Abnormal nervous system physiology	50	ACO2	OMIM:614559
HP:0012638	Abnormal nervous system physiology	6301	SARS1	OMIM:617709
HP:0012638	Abnormal nervous system physiology	3767	KCNJ11	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	3767	KCNJ11	OMIM:618856
HP:0012638	Abnormal nervous system physiology	6774	STAT3	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	2645	GCK	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	3651	PDX1	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	3630	INS	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	4694	NDUFA1	OMIM:301020
HP:0012638	Abnormal nervous system physiology	513	ATP5F1D	OMIM:618120
HP:0012638	Abnormal nervous system physiology	3431	SP110	ORPHA:79124
HP:0012638	Abnormal nervous system physiology	208	AKT2	OMIM:240900
HP:0012638	Abnormal nervous system physiology	5723	PSPH	ORPHA:79350
HP:0012638	Abnormal nervous system physiology	26227	PHGDH	ORPHA:79351
HP:0012638	Abnormal nervous system physiology	60386	SLC25A19	ORPHA:99742
HP:0012638	Abnormal nervous system physiology	10771	ZMYND11	OMIM:616083
HP:0012638	Abnormal nervous system physiology	37	ACADVL	OMIM:201475
HP:0012638	Abnormal nervous system physiology	5281	PIGF	OMIM:619356
HP:0012638	Abnormal nervous system physiology	94005	PIGS	OMIM:618143
HP:0012638	Abnormal nervous system physiology	80036	TRPM3	OMIM:620224
HP:0012638	Abnormal nervous system physiology	10319	LAMC3	OMIM:614115
HP:0012638	Abnormal nervous system physiology	9739	SETD1A	OMIM:618832
HP:0012638	Abnormal nervous system physiology	84823	LMNB2	OMIM:616540
HP:0012638	Abnormal nervous system physiology	1284	COL4A2	OMIM:614483
HP:0012638	Abnormal nervous system physiology	8738	CRADD	OMIM:614499
HP:0012638	Abnormal nervous system physiology	8449	DHX16	OMIM:618733
HP:0012638	Abnormal nervous system physiology	7852	CXCR4	ORPHA:51636
HP:0012638	Abnormal nervous system physiology	10463	SLC30A9	OMIM:617595
HP:0012638	Abnormal nervous system physiology	5274	SERPINI1	OMIM:604218
HP:0012638	Abnormal nervous system physiology	79944	L2HGDH	OMIM:236792
HP:0012638	Abnormal nervous system physiology	79944	L2HGDH	ORPHA:79314
HP:0012638	Abnormal nervous system physiology	23474	ETHE1	ORPHA:51188
HP:0012638	Abnormal nervous system physiology	23474	ETHE1	OMIM:602473
HP:0012638	Abnormal nervous system physiology	84947	SERAC1	OMIM:614739
HP:0012638	Abnormal nervous system physiology	4286	MITF	ORPHA:618
HP:0012638	Abnormal nervous system physiology	1019	CDK4	ORPHA:618
HP:0012638	Abnormal nervous system physiology	4255	MGMT	ORPHA:618
HP:0012638	Abnormal nervous system physiology	54386	TERF2IP	ORPHA:618
HP:0012638	Abnormal nervous system physiology	4157	MC1R	ORPHA:618
HP:0012638	Abnormal nervous system physiology	65057	ACD	ORPHA:618
HP:0012638	Abnormal nervous system physiology	1029	CDKN2A	ORPHA:618
HP:0012638	Abnormal nervous system physiology	25913	POT1	ORPHA:618
HP:0012638	Abnormal nervous system physiology	27247	NFU1	OMIM:605711
HP:0012638	Abnormal nervous system physiology	80067	DCAF17	OMIM:241080
HP:0012638	Abnormal nervous system physiology	80169	CTC1	OMIM:612199
HP:0012638	Abnormal nervous system physiology	10535	RNASEH2A	ORPHA:51
HP:0012638	Abnormal nervous system physiology	25939	SAMHD1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	79621	RNASEH2B	ORPHA:51
HP:0012638	Abnormal nervous system physiology	100147744	RNU7-1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	134353	LSM11	ORPHA:51
HP:0012638	Abnormal nervous system physiology	25974	MMACHC	OMIM:277400
HP:0012638	Abnormal nervous system physiology	5052	PRDX1	OMIM:277400
HP:0012638	Abnormal nervous system physiology	4594	MMUT	ORPHA:289916
HP:0012638	Abnormal nervous system physiology	27183	VPS4A	OMIM:619273
HP:0012638	Abnormal nervous system physiology	9698	PUM1	OMIM:617931
HP:0012638	Abnormal nervous system physiology	5309	PITX3	OMIM:610623
HP:0012638	Abnormal nervous system physiology	6535	SLC6A8	ORPHA:52503
HP:0012638	Abnormal nervous system physiology	54476	RNF216	OMIM:212840
HP:0012638	Abnormal nervous system physiology	4884	NPTX1	OMIM:620158
HP:0012638	Abnormal nervous system physiology	7128	TNFAIP3	OMIM:616744
HP:0012638	Abnormal nervous system physiology	3054	HCFC1	OMIM:309541
HP:0012638	Abnormal nervous system physiology	10367	MICU1	ORPHA:401768
HP:0012638	Abnormal nervous system physiology	10367	MICU1	OMIM:615673
HP:0012638	Abnormal nervous system physiology	39	ACAT2	OMIM:614055
HP:0012638	Abnormal nervous system physiology	51284	TLR7	OMIM:301080
HP:0012638	Abnormal nervous system physiology	29960	MRM2	OMIM:618567
HP:0012638	Abnormal nervous system physiology	7274	TTPA	OMIM:277460
HP:0012638	Abnormal nervous system physiology	7274	TTPA	ORPHA:96
HP:0012638	Abnormal nervous system physiology	8884	SLC5A6	OMIM:619903
HP:0012638	Abnormal nervous system physiology	7291	TWIST1	ORPHA:794
HP:0012638	Abnormal nervous system physiology	94	ACVRL1	OMIM:600376
HP:0012638	Abnormal nervous system physiology	94	ACVRL1	ORPHA:774
HP:0012638	Abnormal nervous system physiology	4088	SMAD3	ORPHA:284984
HP:0012638	Abnormal nervous system physiology	4088	SMAD3	OMIM:613795
HP:0012638	Abnormal nervous system physiology	2811	GP1BA	ORPHA:274
HP:0012638	Abnormal nervous system physiology	2815	GP9	ORPHA:274
HP:0012638	Abnormal nervous system physiology	51816	ADA2	ORPHA:820
HP:0012638	Abnormal nervous system physiology	4072	EPCAM	ORPHA:144
HP:0012638	Abnormal nervous system physiology	4292	MLH1	ORPHA:144
HP:0012638	Abnormal nervous system physiology	5395	PMS2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	27030	MLH3	ORPHA:144
HP:0012638	Abnormal nervous system physiology	22909	FAN1	ORPHA:144
HP:0012638	Abnormal nervous system physiology	7048	TGFBR2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	2956	MSH6	ORPHA:144
HP:0012638	Abnormal nervous system physiology	5378	PMS1	ORPHA:144
HP:0012638	Abnormal nervous system physiology	4436	MSH2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	657	BMPR1A	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	6224	RPS20	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	3350	HTR1A	OMIM:614674
HP:0012638	Abnormal nervous system physiology	1289	COL5A1	OMIM:619329
HP:0012638	Abnormal nervous system physiology	92949	ADAMTSL1	ORPHA:521445
HP:0012638	Abnormal nervous system physiology	65998	ZFTA	ORPHA:251636
HP:0012638	Abnormal nervous system physiology	5970	RELA	ORPHA:251636
HP:0012638	Abnormal nervous system physiology	5230	PGK1	ORPHA:713
HP:0012638	Abnormal nervous system physiology	5230	PGK1	OMIM:300653
HP:0012638	Abnormal nervous system physiology	80216	ALPK1	OMIM:614979
HP:0012638	Abnormal nervous system physiology	2624	GATA2	ORPHA:3226
HP:0012638	Abnormal nervous system physiology	4598	MVK	ORPHA:343
HP:0012638	Abnormal nervous system physiology	9508	ADAMTS3	OMIM:618154
HP:0012638	Abnormal nervous system physiology	6786	STIM1	OMIM:185070
HP:0012638	Abnormal nervous system physiology	2050	EPHB4	ORPHA:137667
HP:0012638	Abnormal nervous system physiology	5921	RASA1	ORPHA:137667
HP:0012638	Abnormal nervous system physiology	2658	GDF2	ORPHA:774
HP:0012638	Abnormal nervous system physiology	4089	SMAD4	ORPHA:774
HP:0012638	Abnormal nervous system physiology	1315	COPB1	OMIM:619255
HP:0012638	Abnormal nervous system physiology	3593	IL12B	ORPHA:3287
HP:0012638	Abnormal nervous system physiology	6945	MLX	ORPHA:3287
HP:0012638	Abnormal nervous system physiology	84978	FRMD5	OMIM:620094
HP:0012638	Abnormal nervous system physiology	1340	COX6B1	OMIM:619051
HP:0012638	Abnormal nervous system physiology	55154	MSTO1	OMIM:617675
HP:0012638	Abnormal nervous system physiology	22983	MAST1	OMIM:618273
HP:0012638	Abnormal nervous system physiology	153241	CEP120	OMIM:617761
HP:0012638	Abnormal nervous system physiology	9524	TECR	OMIM:614020
HP:0012638	Abnormal nervous system physiology	144165	PRICKLE1	ORPHA:308
HP:0012638	Abnormal nervous system physiology	221496	LEMD2	OMIM:619322
HP:0012638	Abnormal nervous system physiology	26011	TENM4	OMIM:616736
HP:0012638	Abnormal nervous system physiology	3766	KCNJ10	OMIM:612780
HP:0012638	Abnormal nervous system physiology	267010	RNU12	OMIM:620208
HP:0012638	Abnormal nervous system physiology	267010	RNU12	ORPHA:512260
HP:0012638	Abnormal nervous system physiology	7080	NKX2-1	ORPHA:209905
HP:0012638	Abnormal nervous system physiology	9445	ITM2B	OMIM:117300
HP:0012638	Abnormal nervous system physiology	54968	TMEM70	OMIM:614052
HP:0012638	Abnormal nervous system physiology	27010	TPK1	OMIM:614458
HP:0012638	Abnormal nervous system physiology	9150	CTDP1	ORPHA:48431
HP:0012638	Abnormal nervous system physiology	54499	TMCO1	OMIM:213980
HP:0012638	Abnormal nervous system physiology	5293	PIK3CD	ORPHA:221139
HP:0012638	Abnormal nervous system physiology	90417	KNSTRN	ORPHA:221139
HP:0012638	Abnormal nervous system physiology	54870	QRICH1	OMIM:617982
HP:0012638	Abnormal nervous system physiology	81562	LMAN2L	OMIM:617863
HP:0012638	Abnormal nervous system physiology	3295	HSD17B4	OMIM:233400
HP:0012638	Abnormal nervous system physiology	9725	TMEM63A	OMIM:618688
HP:0012638	Abnormal nervous system physiology	404672	GTF2H5	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	2068	ERCC2	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	7737	RNF113A	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	136647	MPLKIP	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	6897	TARS1	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	2961	GTF2E2	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	1909	EDNRA	OMIM:157300
HP:0012638	Abnormal nervous system physiology	2099	ESR1	OMIM:157300
HP:0012638	Abnormal nervous system physiology	7124	TNF	OMIM:157300
HP:0012638	Abnormal nervous system physiology	338567	KCNK18	OMIM:613656
HP:0012638	Abnormal nervous system physiology	1954	MEGF8	OMIM:614976
HP:0012638	Abnormal nervous system physiology	93183	PIGM	OMIM:610293
HP:0012638	Abnormal nervous system physiology	57061	HYMAI	ORPHA:96191
HP:0012638	Abnormal nervous system physiology	5325	PLAGL1	ORPHA:96191
HP:0012638	Abnormal nervous system physiology	256471	MFSD8	OMIM:610951
HP:0012638	Abnormal nervous system physiology	5009	OTC	OMIM:311250
HP:0012638	Abnormal nervous system physiology	1889	ECE1	OMIM:613870
HP:0012638	Abnormal nervous system physiology	283209	PGM2L1	OMIM:620191
HP:0012638	Abnormal nervous system physiology	1718	DHCR24	ORPHA:35107
HP:0012638	Abnormal nervous system physiology	8915	BCL10	OMIM:616098
HP:0012638	Abnormal nervous system physiology	1654	DDX3X	ORPHA:457260
HP:0012638	Abnormal nervous system physiology	1654	DDX3X	OMIM:300958
HP:0012638	Abnormal nervous system physiology	7067	THRA	OMIM:614450
HP:0012638	Abnormal nervous system physiology	1298	COL9A2	OMIM:600204
HP:0012638	Abnormal nervous system physiology	8241	RBM10	ORPHA:2886
HP:0012638	Abnormal nervous system physiology	6443	SGCB	ORPHA:119
HP:0012638	Abnormal nervous system physiology	1108	CHD4	OMIM:617159
HP:0012638	Abnormal nervous system physiology	7277	TUBA4A	OMIM:616208
HP:0012638	Abnormal nervous system physiology	899	CCNF	OMIM:619141
HP:0012638	Abnormal nervous system physiology	161582	DNAAF4	OMIM:127700
HP:0012638	Abnormal nervous system physiology	6916	TBXAS1	ORPHA:1802
HP:0012638	Abnormal nervous system physiology	6678	SPARC	OMIM:616507
HP:0012638	Abnormal nervous system physiology	2248	FGF3	OMIM:610706
HP:0012638	Abnormal nervous system physiology	8720	MBTPS1	OMIM:618392
HP:0012638	Abnormal nervous system physiology	7043	TGFB3	OMIM:615582
HP:0012638	Abnormal nervous system physiology	9247	GCM2	OMIM:618883
HP:0012638	Abnormal nervous system physiology	9247	GCM2	ORPHA:2239
HP:0012638	Abnormal nervous system physiology	2625	GATA3	ORPHA:2237
HP:0012638	Abnormal nervous system physiology	122622	ADSS1	ORPHA:482601
HP:0012638	Abnormal nervous system physiology	2192	FBLN1	ORPHA:404451
HP:0012638	Abnormal nervous system physiology	210	ALAD	OMIM:612740
HP:0012638	Abnormal nervous system physiology	10008	KCNE3	ORPHA:681
HP:0012638	Abnormal nervous system physiology	2556	GABRA3	ORPHA:79102
HP:0012638	Abnormal nervous system physiology	1371	CPOX	OMIM:121300
HP:0012638	Abnormal nervous system physiology	50801	KCNK4	OMIM:618381
HP:0012638	Abnormal nervous system physiology	8504	PEX3	OMIM:617370
HP:0012638	Abnormal nervous system physiology	5649	RELN	OMIM:600512
HP:0012638	Abnormal nervous system physiology	64780	MICAL1	OMIM:600512
HP:0012638	Abnormal nervous system physiology	9211	LGI1	OMIM:600512
HP:0012638	Abnormal nervous system physiology	3785	KCNQ2	ORPHA:1949
HP:0012638	Abnormal nervous system physiology	3785	KCNQ2	ORPHA:306
HP:0012638	Abnormal nervous system physiology	3785	KCNQ2	OMIM:121200
HP:0012638	Abnormal nervous system physiology	3786	KCNQ3	ORPHA:1949
HP:0012638	Abnormal nervous system physiology	3786	KCNQ3	ORPHA:306
HP:0012638	Abnormal nervous system physiology	3786	KCNQ3	OMIM:121201
HP:0012638	Abnormal nervous system physiology	23312	DMXL2	OMIM:618663
HP:0012638	Abnormal nervous system physiology	132158	GLYCTK	OMIM:220120
HP:0012638	Abnormal nervous system physiology	23241	PACS2	OMIM:618067
HP:0012638	Abnormal nervous system physiology	6487	ST3GAL3	OMIM:615006
HP:0012638	Abnormal nervous system physiology	51294	PCDH12	OMIM:251280
HP:0012638	Abnormal nervous system physiology	53616	ADAM22	OMIM:617933
HP:0012638	Abnormal nervous system physiology	55325	UFSP2	OMIM:620028
HP:0012638	Abnormal nervous system physiology	23732	FRRS1L	ORPHA:725
HP:0012638	Abnormal nervous system physiology	2903	GRIN2A	ORPHA:725
HP:0012638	Abnormal nervous system physiology	6334	SCN8A	ORPHA:306
HP:0012638	Abnormal nervous system physiology	6326	SCN2A	ORPHA:306
HP:0012638	Abnormal nervous system physiology	9568	GABBR2	OMIM:617904
HP:0012638	Abnormal nervous system physiology	23769	FLRT1	ORPHA:320406
HP:0012638	Abnormal nervous system physiology	64837	KLC2	ORPHA:320406
HP:0012638	Abnormal nervous system physiology	64837	KLC2	OMIM:609541
HP:0012638	Abnormal nervous system physiology	3074	HEXB	ORPHA:309155
HP:0012638	Abnormal nervous system physiology	3074	HEXB	OMIM:268800
HP:0012638	Abnormal nervous system physiology	22906	TRAK1	OMIM:618201
HP:0012638	Abnormal nervous system physiology	10588	MTHFS	OMIM:618367
HP:0012638	Abnormal nervous system physiology	440	ASNS	OMIM:615574
HP:0012638	Abnormal nervous system physiology	51501	HIKESHI	OMIM:616881
HP:0012638	Abnormal nervous system physiology	23229	ARHGEF9	ORPHA:163985
HP:0012638	Abnormal nervous system physiology	23229	ARHGEF9	OMIM:300607
HP:0012638	Abnormal nervous system physiology	2218	FKTN	OMIM:253800
HP:0012638	Abnormal nervous system physiology	3073	HEXA	OMIM:272800
HP:0012638	Abnormal nervous system physiology	23258	DENND5A	OMIM:617281
HP:0012638	Abnormal nervous system physiology	7259	TSPYL1	OMIM:608800
HP:0012638	Abnormal nervous system physiology	2760	GM2A	ORPHA:309246
HP:0012638	Abnormal nervous system physiology	2760	GM2A	OMIM:272750
HP:0012638	Abnormal nervous system physiology	7750	ZMYM2	OMIM:619522
HP:0012638	Abnormal nervous system physiology	6647	SOD1	OMIM:618598
HP:0012638	Abnormal nervous system physiology	6536	SLC6A9	OMIM:617301
HP:0012638	Abnormal nervous system physiology	221927	BRAT1	OMIM:618056
HP:0012638	Abnormal nervous system physiology	5813	PURA	ORPHA:438216
HP:0012638	Abnormal nervous system physiology	2893	GRIA4	OMIM:617864
HP:0012638	Abnormal nervous system physiology	23043	TNIK	OMIM:617028
HP:0012638	Abnormal nervous system physiology	2741	GLRA1	OMIM:149400
HP:0012638	Abnormal nervous system physiology	10243	GPHN	OMIM:149400
HP:0012638	Abnormal nervous system physiology	9373	PLAA	ORPHA:521426
HP:0012638	Abnormal nervous system physiology	9373	PLAA	OMIM:617527
HP:0012638	Abnormal nervous system physiology	1644	DDC	OMIM:608643
HP:0012638	Abnormal nervous system physiology	9152	SLC6A5	OMIM:614618
HP:0012638	Abnormal nervous system physiology	8911	CACNA1I	OMIM:620114
HP:0012638	Abnormal nervous system physiology	2720	GLB1	ORPHA:79255
HP:0012638	Abnormal nervous system physiology	2743	GLRB	OMIM:614619
HP:0012638	Abnormal nervous system physiology	1737	DLAT	OMIM:245348
HP:0012638	Abnormal nervous system physiology	1737	DLAT	ORPHA:79244
HP:0012638	Abnormal nervous system physiology	1137	CHRNA4	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	1135	CHRNA2	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	57010	CABP4	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	1141	CHRNB2	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	57582	KCNT1	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	1392	CRH	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	9681	DEPDC5	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	OMIM:606777
HP:0012638	Abnormal nervous system physiology	23221	RHOBTB2	OMIM:618004
HP:0012638	Abnormal nervous system physiology	25953	PNKD	OMIM:118800
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	ORPHA:163727
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	OMIM:608105
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	116461	TSEN15	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	79042	TSEN34	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	80746	TSEN2	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	51091	SEPSECS	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	OMIM:128200
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	OMIM:602066
HP:0012638	Abnormal nervous system physiology	10667	FARS2	ORPHA:466722
HP:0012638	Abnormal nervous system physiology	59336	PRDM13	OMIM:619909
HP:0012638	Abnormal nervous system physiology	9131	AIFM1	OMIM:300232
HP:0012638	Abnormal nervous system physiology	3094	HINT1	ORPHA:324442
HP:0012638	Abnormal nervous system physiology	4750	NEK1	OMIM:617892
HP:0012638	Abnormal nervous system physiology	51728	POLR3K	OMIM:619310
HP:0012638	Abnormal nervous system physiology	10564	ARFGEF2	OMIM:608097
HP:0012638	Abnormal nervous system physiology	4860	PNP	OMIM:613179
HP:0012638	Abnormal nervous system physiology	4038	LRP4	OMIM:614305
HP:0012638	Abnormal nervous system physiology	7360	UGP2	OMIM:618744
HP:0012638	Abnormal nervous system physiology	7415	VCP	OMIM:167320
HP:0012638	Abnormal nervous system physiology	7415	VCP	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	7415	VCP	OMIM:613954
HP:0012638	Abnormal nervous system physiology	6507	SLC1A3	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	477	ATP1A2	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	1282	COL4A1	OMIM:175780
HP:0012638	Abnormal nervous system physiology	2521	FUS	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	8878	SQSTM1	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	23435	TARDBP	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	29110	TBK1	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	400916	CHCHD10	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	80704	SLC19A3	OMIM:607483
HP:0012638	Abnormal nervous system physiology	80704	SLC19A3	ORPHA:263410
HP:0012638	Abnormal nervous system physiology	203228	C9orf72	OMIM:105550
HP:0012638	Abnormal nervous system physiology	8050	PDHX	ORPHA:255182
HP:0012638	Abnormal nervous system physiology	2571	GAD1	OMIM:619124
HP:0012638	Abnormal nervous system physiology	128240	NAXE	OMIM:617186
HP:0012638	Abnormal nervous system physiology	79587	CARS2	ORPHA:477774
HP:0012638	Abnormal nervous system physiology	79587	CARS2	OMIM:616672
HP:0012638	Abnormal nervous system physiology	4722	NDUFS3	OMIM:618230
HP:0012638	Abnormal nervous system physiology	23287	AGTPBP1	OMIM:618276
HP:0012638	Abnormal nervous system physiology	347733	TUBB2B	OMIM:610031
HP:0012638	Abnormal nervous system physiology	6506	SLC1A2	OMIM:617105
HP:0012638	Abnormal nervous system physiology	64135	IFIH1	OMIM:615846
HP:0012638	Abnormal nervous system physiology	2581	GALC	ORPHA:206448
HP:0012638	Abnormal nervous system physiology	4508	MT-ATP6	ORPHA:225154
HP:0012638	Abnormal nervous system physiology	23636	NUP62	ORPHA:225154
HP:0012638	Abnormal nervous system physiology	103	ADAR	ORPHA:225154
HP:0012638	Abnormal nervous system physiology	7345	UCHL1	OMIM:615491
HP:0012638	Abnormal nervous system physiology	340533	NEXMIF	ORPHA:85277
HP:0012638	Abnormal nervous system physiology	1757	SARDH	ORPHA:3129
HP:0012638	Abnormal nervous system physiology	55679	LIMS2	OMIM:616827
HP:0012638	Abnormal nervous system physiology	64802	NMNAT1	OMIM:619260
HP:0012638	Abnormal nervous system physiology	2632	GBE1	OMIM:263570
HP:0012638	Abnormal nervous system physiology	1468	SLC25A10	OMIM:618972
HP:0012638	Abnormal nervous system physiology	8792	TNFRSF11A	OMIM:602080
HP:0012638	Abnormal nervous system physiology	5498	PPOX	ORPHA:79473
HP:0012638	Abnormal nervous system physiology	2697	GJA1	OMIM:164200
HP:0012638	Abnormal nervous system physiology	4001	LMNB1	ORPHA:99027
HP:0012638	Abnormal nervous system physiology	760	CA2	ORPHA:2785
HP:0012638	Abnormal nervous system physiology	10157	AASS	ORPHA:2203
HP:0012638	Abnormal nervous system physiology	2639	GCDH	ORPHA:25
HP:0012638	Abnormal nervous system physiology	23230	VPS13A	ORPHA:2388
HP:0012638	Abnormal nervous system physiology	25942	SIN3A	OMIM:613406
HP:0012638	Abnormal nervous system physiology	658	BMPR1B	OMIM:616849
HP:0012638	Abnormal nervous system physiology	540	ATP7B	OMIM:277900
HP:0012638	Abnormal nervous system physiology	23203	PMPCA	ORPHA:1170
HP:0012638	Abnormal nervous system physiology	81704	DOCK8	OMIM:243700
HP:0012638	Abnormal nervous system physiology	6427	SRSF2	ORPHA:98849
HP:0012638	Abnormal nervous system physiology	1175	AP2S1	OMIM:600740
HP:0012638	Abnormal nervous system physiology	10019	SH2B3	OMIM:133100
HP:0012638	Abnormal nervous system physiology	2057	EPOR	OMIM:133100
HP:0012638	Abnormal nervous system physiology	2057	EPOR	ORPHA:90042
HP:0012638	Abnormal nervous system physiology	9493	KIF23	ORPHA:98870
HP:0012638	Abnormal nervous system physiology	29127	RACGAP1	ORPHA:98870
HP:0012638	Abnormal nervous system physiology	1991	ELANE	ORPHA:2686
HP:0012638	Abnormal nervous system physiology	4868	NPHS1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23607	CD2AP	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9688	NUP93	ORPHA:656
HP:0012638	Abnormal nervous system physiology	4643	MYO1E	ORPHA:656
HP:0012638	Abnormal nervous system physiology	26130	GAPVD1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	51479	ANKFY1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	54443	ANLN	ORPHA:656
HP:0012638	Abnormal nervous system physiology	5800	PTPRO	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23165	NUP205	ORPHA:656
HP:0012638	Abnormal nervous system physiology	2013	EMP2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	51196	PLCE1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	1285	COL4A3	ORPHA:656
HP:0012638	Abnormal nervous system physiology	79934	COQ8B	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23279	NUP160	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9863	MAGI2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	81	ACTN4	ORPHA:656
HP:0012638	Abnormal nervous system physiology	7225	TRPC6	ORPHA:656
HP:0012638	Abnormal nervous system physiology	8542	APOL1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	54885	TBC1D8B	ORPHA:656
HP:0012638	Abnormal nervous system physiology	7827	NPHS2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	83478	ARHGAP24	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23500	DAAM2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9663	LPIN2	ORPHA:77297
HP:0012638	Abnormal nervous system physiology	4179	CD46	ORPHA:244242
HP:0012638	Abnormal nervous system physiology	101101692	HELLPAR	ORPHA:244242
HP:0012638	Abnormal nervous system physiology	91662	NLRP12	OMIM:611762
HP:0012638	Abnormal nervous system physiology	595	CCND1	ORPHA:892
HP:0012638	Abnormal nervous system physiology	27316	RBMX	OMIM:300238
HP:0012638	Abnormal nervous system physiology	50651	SLC45A1	OMIM:617532
HP:0012638	Abnormal nervous system physiology	8239	USP9X	ORPHA:480880
HP:0012638	Abnormal nervous system physiology	10586	MAB21L2	OMIM:615877
HP:0012638	Abnormal nervous system physiology	1950	EGF	OMIM:611718
HP:0012638	Abnormal nervous system physiology	4810	NHS	OMIM:302350
HP:0012638	Abnormal nervous system physiology	27107	ZBTB11	OMIM:618383
HP:0012638	Abnormal nervous system physiology	10283	CWC27	ORPHA:166035
HP:0012638	Abnormal nervous system physiology	23397	NCAPH	OMIM:617985
HP:0012638	Abnormal nervous system physiology	5495	PPM1B	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	6519	SLC3A1	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	79823	CAMKMT	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	64131	XYLT1	ORPHA:370930
HP:0012638	Abnormal nervous system physiology	10369	CACNG2	OMIM:614256
HP:0012638	Abnormal nervous system physiology	5873	RAB27A	OMIM:607624
HP:0012638	Abnormal nervous system physiology	23511	NUP188	OMIM:618804
HP:0012638	Abnormal nervous system physiology	8557	TCAP	OMIM:601954
HP:0012638	Abnormal nervous system physiology	142680	SLC34A3	OMIM:241530
HP:0012638	Abnormal nervous system physiology	11149	BVES	OMIM:616812
HP:0012638	Abnormal nervous system physiology	4883	NPR3	OMIM:619543
HP:0012638	Abnormal nervous system physiology	26175	LYSET	OMIM:619345
HP:0012638	Abnormal nervous system physiology	2992	GYG1	OMIM:616199
HP:0012638	Abnormal nervous system physiology	5317	PKP1	ORPHA:158668
HP:0012638	Abnormal nervous system physiology	125170	MIEF2	OMIM:619024
HP:0012638	Abnormal nervous system physiology	80204	FBXO11	OMIM:618089
HP:0012638	Abnormal nervous system physiology	7021	TFAP2B	ORPHA:46627
HP:0012638	Abnormal nervous system physiology	790955	UQCC3	OMIM:616111
HP:0012638	Abnormal nervous system physiology	175	AGA	ORPHA:93
HP:0012638	Abnormal nervous system physiology	2321	FLT1	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	219736	STOX1	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	10699	CORIN	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	6942	TCF20	OMIM:618430
HP:0012638	Abnormal nervous system physiology	5836	PYGL	ORPHA:369
HP:0012638	Abnormal nervous system physiology	5256	PHKA2	ORPHA:264580
HP:0012638	Abnormal nervous system physiology	5261	PHKG2	ORPHA:264580
HP:0012638	Abnormal nervous system physiology	6448	SGSH	OMIM:252900
HP:0012638	Abnormal nervous system physiology	3594	IL12RB1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	6689	SPIB	ORPHA:186
HP:0012638	Abnormal nervous system physiology	5450	POU2AF1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	9966	TNFSF15	ORPHA:186
HP:0012638	Abnormal nervous system physiology	79258	MMEL1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	5455	POU3F3	OMIM:618604
HP:0012638	Abnormal nervous system physiology	284361	EMC10	OMIM:619264
HP:0012638	Abnormal nervous system physiology	22796	COG2	ORPHA:435934
HP:0012638	Abnormal nervous system physiology	10269	ZMPSTE24	ORPHA:740
HP:0012638	Abnormal nervous system physiology	55623	THUMPD1	OMIM:619989
HP:0012638	Abnormal nervous system physiology	4094	MAF	ORPHA:1272
HP:0012638	Abnormal nervous system physiology	55252	ASXL2	OMIM:617190
HP:0012638	Abnormal nervous system physiology	4927	NUP88	ORPHA:994
HP:0012638	Abnormal nervous system physiology	51025	PAM16	OMIM:613320
HP:0012638	Abnormal nervous system physiology	51021	MRPS16	OMIM:610498
HP:0012638	Abnormal nervous system physiology	2348	FOLR1	OMIM:613068
HP:0012638	Abnormal nervous system physiology	81693	AMN	ORPHA:35858
HP:0012638	Abnormal nervous system physiology	1967	EIF2B1	OMIM:603896
HP:0012638	Abnormal nervous system physiology	55217	TMLHE	OMIM:300872
HP:0012638	Abnormal nervous system physiology	819	CAMLG	OMIM:620201
HP:0012638	Abnormal nervous system physiology	25886	POC1A	OMIM:614813
HP:0012638	Abnormal nervous system physiology	55681	SCYL2	ORPHA:1143
HP:0012638	Abnormal nervous system physiology	84570	COL25A1	ORPHA:1143
HP:0012638	Abnormal nervous system physiology	57222	ERGIC1	ORPHA:1143
HP:0012638	Abnormal nervous system physiology	50814	NSDHL	ORPHA:251383
HP:0012638	Abnormal nervous system physiology	6331	SCN5A	ORPHA:1344
HP:0012638	Abnormal nervous system physiology	4878	NPPA	ORPHA:1344
HP:0012638	Abnormal nervous system physiology	9719	ADAMTSL2	ORPHA:1901
HP:0012638	Abnormal nervous system physiology	9509	ADAMTS2	ORPHA:1901
HP:0012638	Abnormal nervous system physiology	1278	COL1A2	ORPHA:1899
HP:0012638	Abnormal nervous system physiology	23019	CNOT1	OMIM:618500
HP:0012638	Abnormal nervous system physiology	23135	KDM6B	OMIM:618505
HP:0012638	Abnormal nervous system physiology	9419	CRIPT	OMIM:615789
HP:0012638	Abnormal nervous system physiology	23040	MYT1L	OMIM:616521
HP:0012638	Abnormal nervous system physiology	7403	KDM6A	OMIM:147920
HP:0012638	Abnormal nervous system physiology	10060	ABCC9	OMIM:619719
HP:0012638	Abnormal nervous system physiology	4353	MPO	OMIM:104300
HP:0012638	Abnormal nervous system physiology	4846	NOS3	OMIM:104300
HP:0012638	Abnormal nervous system physiology	3077	HFE	OMIM:104300
HP:0012638	Abnormal nervous system physiology	5328	PLAU	OMIM:104300
HP:0012638	Abnormal nervous system physiology	1540	CYLD	OMIM:619132
HP:0012638	Abnormal nervous system physiology	6736	SRY	ORPHA:1772
HP:0012638	Abnormal nervous system physiology	29072	SETD2	ORPHA:821
HP:0012638	Abnormal nervous system physiology	10134	BCAP31	OMIM:300475
HP:0012638	Abnormal nervous system physiology	10134	BCAP31	ORPHA:369939
HP:0012638	Abnormal nervous system physiology	701	BUB1B	OMIM:257300
HP:0012638	Abnormal nervous system physiology	5551	PRF1	OMIM:603553
HP:0012638	Abnormal nervous system physiology	56246	MRAP	ORPHA:361
HP:0012638	Abnormal nervous system physiology	6770	STAR	ORPHA:361
HP:0012638	Abnormal nervous system physiology	4158	MC2R	ORPHA:361
HP:0012638	Abnormal nervous system physiology	23530	NNT	ORPHA:361
HP:0012638	Abnormal nervous system physiology	10587	TXNRD2	ORPHA:361
HP:0012638	Abnormal nervous system physiology	374354	NHLRC2	OMIM:618278
HP:0012638	Abnormal nervous system physiology	51693	TRAPPC2L	OMIM:618331
HP:0012638	Abnormal nervous system physiology	8942	KYNU	ORPHA:79155
HP:0012638	Abnormal nervous system physiology	347734	SLC35B2	OMIM:620269
HP:0012638	Abnormal nervous system physiology	1528	CYB5A	ORPHA:621
HP:0012638	Abnormal nervous system physiology	1727	CYB5R3	ORPHA:621
HP:0012638	Abnormal nervous system physiology	5610	EIF2AK2	OMIM:619687
HP:0012638	Abnormal nervous system physiology	128486	FITM2	OMIM:618635
HP:0012638	Abnormal nervous system physiology	150468	CKAP2L	ORPHA:3255
HP:0012638	Abnormal nervous system physiology	116228	COX20	OMIM:619054
HP:0012638	Abnormal nervous system physiology	3975	LHX1	ORPHA:261265
HP:0012638	Abnormal nervous system physiology	6928	HNF1B	ORPHA:261265
HP:0012638	Abnormal nervous system physiology	79853	TM4SF20	OMIM:615432
HP:0012638	Abnormal nervous system physiology	6696	SPP1	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	3654	IRAK1	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	613	BCR	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	1399	CRKL	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	5594	MAPK1	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	5575	PRKAR1B	ORPHA:412066
HP:0012638	Abnormal nervous system physiology	201163	FLCN	OMIM:610883
HP:0012638	Abnormal nervous system physiology	5664	PSEN2	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	10452	TOMM40	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	10347	ABCA7	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	6653	SORL1	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	25782	RAB3GAP2	ORPHA:401830
HP:0012638	Abnormal nervous system physiology	87178	PNPT1	ORPHA:101111
HP:0012638	Abnormal nervous system physiology	5190	PEX6	ORPHA:95433
HP:0012638	Abnormal nervous system physiology	84188	FAR1	ORPHA:447753
HP:0012638	Abnormal nervous system physiology	11253	MAN1B1	ORPHA:397941
HP:0012638	Abnormal nervous system physiology	57459	GATAD2B	OMIM:615074
HP:0012638	Abnormal nervous system physiology	57459	GATAD2B	ORPHA:363686
HP:0012638	Abnormal nervous system physiology	22856	CHSY1	ORPHA:363417
HP:0012638	Abnormal nervous system physiology	132	ADK	OMIM:614300
HP:0012638	Abnormal nervous system physiology	25821	MTO1	OMIM:614702
HP:0012638	Abnormal nervous system physiology	6418	SET	OMIM:618106
HP:0012638	Abnormal nervous system physiology	7109	TRAPPC10	OMIM:620027
HP:0012638	Abnormal nervous system physiology	84942	WDR73	OMIM:251300
HP:0012638	Abnormal nervous system physiology	79796	ALG9	OMIM:608776
HP:0012638	Abnormal nervous system physiology	5279	PIGC	OMIM:617816
HP:0012638	Abnormal nervous system physiology	3190	HNRNPK	ORPHA:453504
HP:0012638	Abnormal nervous system physiology	3190	HNRNPK	OMIM:616580
HP:0012638	Abnormal nervous system physiology	3190	HNRNPK	ORPHA:352665
HP:0012638	Abnormal nervous system physiology	1120	CHKB	OMIM:602541
HP:0012638	Abnormal nervous system physiology	57165	GJC2	OMIM:608804
HP:0012638	Abnormal nervous system physiology	7707	ZNF148	OMIM:617260
HP:0012638	Abnormal nervous system physiology	2972	BRF1	ORPHA:444072
HP:0012638	Abnormal nervous system physiology	6873	TAF2	ORPHA:397951
HP:0012638	Abnormal nervous system physiology	84197	POMK	OMIM:615249
HP:0012638	Abnormal nervous system physiology	56623	INPP5E	ORPHA:75858
HP:0012638	Abnormal nervous system physiology	11152	WDR45	ORPHA:329284
HP:0012638	Abnormal nervous system physiology	11152	WDR45	OMIM:300894
HP:0012638	Abnormal nervous system physiology	526	ATP6V1B2	ORPHA:79499
HP:0012638	Abnormal nervous system physiology	9126	SMC3	OMIM:610759
HP:0012638	Abnormal nervous system physiology	26224	FBXL3	OMIM:606220
HP:0012638	Abnormal nervous system physiology	90161	HS6ST2	OMIM:301025
HP:0012638	Abnormal nervous system physiology	79158	GNPTAB	ORPHA:576
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	ORPHA:370968
HP:0012638	Abnormal nervous system physiology	29954	POMT2	ORPHA:370968
HP:0012638	Abnormal nervous system physiology	9215	LARGE1	ORPHA:370968
HP:0012638	Abnormal nervous system physiology	10585	POMT1	ORPHA:370968
HP:0012638	Abnormal nervous system physiology	10559	SLC35A1	OMIM:603585
HP:0012638	Abnormal nervous system physiology	818	CAMK2G	OMIM:618522
HP:0012638	Abnormal nervous system physiology	51116	MRPS2	OMIM:617950
HP:0012638	Abnormal nervous system physiology	55572	FOXRED1	OMIM:618241
HP:0012638	Abnormal nervous system physiology	80224	NUBPL	OMIM:618242
HP:0012638	Abnormal nervous system physiology	7436	VLDLR	OMIM:224050
HP:0012638	Abnormal nervous system physiology	81857	MED25	ORPHA:464738
HP:0012638	Abnormal nervous system physiology	93986	FOXP2	ORPHA:209908
HP:0012638	Abnormal nervous system physiology	51079	NDUFA13	OMIM:618249
HP:0012638	Abnormal nervous system physiology	116442	RAB39B	OMIM:311510
HP:0012638	Abnormal nervous system physiology	23389	MED13L	ORPHA:369891
HP:0012638	Abnormal nervous system physiology	23389	MED13L	OMIM:616789
HP:0012638	Abnormal nervous system physiology	2626	GATA4	ORPHA:251071
HP:0012638	Abnormal nervous system physiology	56776	FMN2	OMIM:616193
HP:0012638	Abnormal nervous system physiology	1193	CLIC2	ORPHA:324410
HP:0012638	Abnormal nervous system physiology	10297	APC2	OMIM:617169
HP:0012638	Abnormal nervous system physiology	5283	PIGH	OMIM:618010
HP:0012638	Abnormal nervous system physiology	23152	CIC	OMIM:617600
HP:0012638	Abnormal nervous system physiology	1729	DIAPH1	OMIM:616632
HP:0012638	Abnormal nervous system physiology	8635	RNASET2	OMIM:612951
HP:0012638	Abnormal nervous system physiology	84300	UQCC2	OMIM:615824
HP:0012638	Abnormal nervous system physiology	388662	SLC6A17	ORPHA:457212
HP:0012638	Abnormal nervous system physiology	5063	PAK3	OMIM:300558
HP:0012638	Abnormal nervous system physiology	163786	SASS6	OMIM:616402
HP:0012638	Abnormal nervous system physiology	998	CDC42	ORPHA:487796
HP:0012638	Abnormal nervous system physiology	9894	TELO2	ORPHA:488642
HP:0012638	Abnormal nervous system physiology	4983	OPHN1	ORPHA:137831
HP:0012638	Abnormal nervous system physiology	85440	DOCK7	ORPHA:411986
HP:0012638	Abnormal nervous system physiology	55210	ATAD3A	ORPHA:496790
HP:0012638	Abnormal nervous system physiology	5058	PAK1	OMIM:618158
HP:0012638	Abnormal nervous system physiology	2232	FDXR	ORPHA:543470
HP:0012638	Abnormal nervous system physiology	28952	CCDC22	OMIM:300963
HP:0012638	Abnormal nervous system physiology	81887	LAS1L	ORPHA:3459
HP:0012638	Abnormal nervous system physiology	55869	HDAC8	ORPHA:3459
HP:0012638	Abnormal nervous system physiology	57570	TRMT5	OMIM:616539
HP:0012638	Abnormal nervous system physiology	54112	GPR88	OMIM:616939
HP:0012638	Abnormal nervous system physiology	93587	TRMT10A	ORPHA:391408
HP:0012638	Abnormal nervous system physiology	84919	PPP1R15B	ORPHA:391408
HP:0012638	Abnormal nervous system physiology	55691	FRMD4A	ORPHA:466688
HP:0012638	Abnormal nervous system physiology	10717	AP4B1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	9179	AP4M1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	11154	AP4S1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	23431	AP4E1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	23545	ATP6V0A2	ORPHA:357074
HP:0012638	Abnormal nervous system physiology	529	ATP6V1E1	ORPHA:357074
HP:0012638	Abnormal nervous system physiology	5528	PPP2R5D	ORPHA:457279
HP:0012638	Abnormal nervous system physiology	55084	SOBP	OMIM:613671
HP:0012638	Abnormal nervous system physiology	476	ATP1A1	ORPHA:564178
HP:0012638	Abnormal nervous system physiology	9928	KIF14	OMIM:617914
HP:0012638	Abnormal nervous system physiology	5879	RAC1	ORPHA:500159
HP:0012638	Abnormal nervous system physiology	162417	NAGS	ORPHA:927
HP:0012638	Abnormal nervous system physiology	11043	MID2	OMIM:300928
HP:0012638	Abnormal nervous system physiology	64116	SLC39A8	ORPHA:468699
HP:0012638	Abnormal nervous system physiology	54936	ADPRS	OMIM:618170
HP:0012638	Abnormal nervous system physiology	6595	SMARCA2	OMIM:601358
HP:0012638	Abnormal nervous system physiology	26100	WIPI2	OMIM:618453
HP:0012638	Abnormal nervous system physiology	8295	TRRAP	OMIM:618454
HP:0012638	Abnormal nervous system physiology	1968	EIF2S3	OMIM:300148
HP:0012638	Abnormal nervous system physiology	6878	TAF6	OMIM:617126
HP:0012638	Abnormal nervous system physiology	5518	PPP2R1A	ORPHA:457284
HP:0012638	Abnormal nervous system physiology	57194	ATP10A	ORPHA:411515
HP:0012638	Abnormal nervous system physiology	54808	DYM	ORPHA:239
HP:0012638	Abnormal nervous system physiology	22	ABCB7	OMIM:301310
HP:0012638	Abnormal nervous system physiology	131118	DNAJC19	OMIM:610198
HP:0012638	Abnormal nervous system physiology	5457	POU4F1	ORPHA:314647
HP:0012638	Abnormal nervous system physiology	23261	CAMTA1	ORPHA:314647
HP:0012638	Abnormal nervous system physiology	85300	ATCAY	ORPHA:94122
HP:0012638	Abnormal nervous system physiology	55280	CWF19L1	ORPHA:453521
HP:0012638	Abnormal nervous system physiology	64324	NSD1	OMIM:117550
HP:0012638	Abnormal nervous system physiology	8565	YARS1	OMIM:619418
HP:0012638	Abnormal nervous system physiology	644096	SDHAF1	ORPHA:3208
HP:0012638	Abnormal nervous system physiology	9439	MED23	OMIM:614249
HP:0012638	Abnormal nervous system physiology	8085	KMT2D	OMIM:620186
HP:0012638	Abnormal nervous system physiology	6472	SHMT2	OMIM:619121
HP:0012638	Abnormal nervous system physiology	55186	SLC25A36	OMIM:620211
HP:0012638	Abnormal nervous system physiology	63895	PIEZO2	OMIM:248700
HP:0012638	Abnormal nervous system physiology	4728	NDUFS8	OMIM:618222
HP:0012638	Abnormal nervous system physiology	8818	DPM2	OMIM:615042
HP:0012638	Abnormal nervous system physiology	8722	CTSF	OMIM:615362
HP:0012638	Abnormal nervous system physiology	22931	RAB18	OMIM:614222
HP:0012638	Abnormal nervous system physiology	3032	HADHB	ORPHA:746
HP:0012638	Abnormal nervous system physiology	3030	HADHA	ORPHA:746
HP:0012638	Abnormal nervous system physiology	57338	JPH3	ORPHA:98934
HP:0012638	Abnormal nervous system physiology	23400	ATP13A2	ORPHA:513436
HP:0012638	Abnormal nervous system physiology	5354	PLP1	ORPHA:280234
HP:0012638	Abnormal nervous system physiology	5354	PLP1	OMIM:312080
HP:0012638	Abnormal nervous system physiology	54	ACP5	OMIM:607944
HP:0012638	Abnormal nervous system physiology	79152	FA2H	ORPHA:329308
HP:0012638	Abnormal nervous system physiology	6711	SPTBN1	OMIM:619475
HP:0012638	Abnormal nervous system physiology	133686	NADK2	ORPHA:431361
HP:0012638	Abnormal nervous system physiology	383	ARG1	OMIM:207800
HP:0012638	Abnormal nervous system physiology	383	ARG1	ORPHA:90
HP:0012638	Abnormal nervous system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0012638	Abnormal nervous system physiology	7840	ALMS1	ORPHA:64
HP:0012638	Abnormal nervous system physiology	51594	NBAS	OMIM:616483
HP:0012638	Abnormal nervous system physiology	1738	DLD	ORPHA:2394
HP:0012638	Abnormal nervous system physiology	60561	RINT1	OMIM:618641
HP:0012638	Abnormal nervous system physiology	57169	ZNFX1	OMIM:619644
HP:0012638	Abnormal nervous system physiology	5105	PCK1	OMIM:261680
HP:0012638	Abnormal nervous system physiology	54914	FOCAD	OMIM:619991
HP:0012638	Abnormal nervous system physiology	7289	TULP3	OMIM:619902
HP:0012638	Abnormal nervous system physiology	10165	SLC25A13	ORPHA:247585
HP:0012638	Abnormal nervous system physiology	331	XIAP	OMIM:308240
HP:0012638	Abnormal nervous system physiology	4068	SH2D1A	OMIM:308240
HP:0012638	Abnormal nervous system physiology	9451	EIF2AK3	ORPHA:1667
HP:0012638	Abnormal nervous system physiology	410	ARSA	ORPHA:309271
HP:0012638	Abnormal nervous system physiology	6261	RYR1	ORPHA:597
HP:0012638	Abnormal nervous system physiology	65055	REEP1	ORPHA:101011
HP:0012638	Abnormal nervous system physiology	9782	MATR3	OMIM:606070
HP:0012638	Abnormal nervous system physiology	84665	MYPN	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	58	ACTA1	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	7169	TPM2	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	390594	KBTBD13	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	4703	NEB	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	10324	KLHL41	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	7170	TPM3	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	80208	SPG11	OMIM:602099
HP:0012638	Abnormal nervous system physiology	80208	SPG11	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	9217	VAPB	OMIM:608627
HP:0012638	Abnormal nervous system physiology	4535	MT-ND1	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4536	MT-ND2	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4537	MT-ND3	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4538	MT-ND4	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4567	MT-TL1	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4578	MT-TW	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4577	MT-TV	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4540	MT-ND5	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4541	MT-ND6	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4566	MT-TK	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	10280	SIGMAR1	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	57679	ALS2	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	2629	GBA1	OMIM:230900
HP:0012638	Abnormal nervous system physiology	2934	GSN	ORPHA:85448
HP:0012638	Abnormal nervous system physiology	2670	GFAP	OMIM:203450
HP:0012638	Abnormal nervous system physiology	10342	TFG	ORPHA:90117
HP:0012638	Abnormal nervous system physiology	9896	FIG4	OMIM:612577
HP:0012638	Abnormal nervous system physiology	23516	SLC39A14	ORPHA:521406
HP:0012638	Abnormal nervous system physiology	6310	ATXN1	ORPHA:98755
HP:0012638	Abnormal nervous system physiology	2775	GNAO1	OMIM:617493
HP:0012638	Abnormal nervous system physiology	57187	THOC2	OMIM:300957
HP:0012638	Abnormal nervous system physiology	57187	THOC2	ORPHA:457240
HP:0012638	Abnormal nervous system physiology	60684	TRAPPC11	OMIM:615356
HP:0012638	Abnormal nervous system physiology	60684	TRAPPC11	ORPHA:369847
HP:0012638	Abnormal nervous system physiology	6531	SLC6A3	OMIM:613135
HP:0012638	Abnormal nervous system physiology	7701	ZNF142	OMIM:618425
HP:0012638	Abnormal nervous system physiology	2643	GCH1	OMIM:233910
HP:0012638	Abnormal nervous system physiology	10846	PDE10A	OMIM:616921
HP:0012638	Abnormal nervous system physiology	25914	RTTN	ORPHA:468631
HP:0012638	Abnormal nervous system physiology	4552	MTRR	OMIM:236270
HP:0012638	Abnormal nervous system physiology	10479	SLC9A6	OMIM:300243
HP:0012638	Abnormal nervous system physiology	6857	SYT1	ORPHA:522077
HP:0012638	Abnormal nervous system physiology	6857	SYT1	OMIM:618218
HP:0012638	Abnormal nervous system physiology	10730	YME1L1	OMIM:617302
HP:0012638	Abnormal nervous system physiology	5660	PSAP	OMIM:611721
HP:0012638	Abnormal nervous system physiology	29920	PYCR2	OMIM:616420
HP:0012638	Abnormal nervous system physiology	777	CACNA1E	OMIM:618285
HP:0012638	Abnormal nervous system physiology	816	CAMK2B	OMIM:617799
HP:0012638	Abnormal nervous system physiology	10352	WARS2	OMIM:619738
HP:0012638	Abnormal nervous system physiology	10020	GNE	ORPHA:3166
HP:0012638	Abnormal nervous system physiology	3954	LETM1	OMIM:620089
HP:0012638	Abnormal nervous system physiology	5805	PTS	ORPHA:13
HP:0012638	Abnormal nervous system physiology	23096	IQSEC2	ORPHA:397933
HP:0012638	Abnormal nervous system physiology	774	CACNA1B	OMIM:618497
HP:0012638	Abnormal nervous system physiology	81570	CLPB	OMIM:616271
HP:0012638	Abnormal nervous system physiology	8802	SUCLG1	ORPHA:17
HP:0012638	Abnormal nervous system physiology	2902	GRIN1	OMIM:614254
HP:0012638	Abnormal nervous system physiology	8803	SUCLA2	OMIM:612073
HP:0012638	Abnormal nervous system physiology	4761	NEUROD2	OMIM:618374
HP:0012638	Abnormal nervous system physiology	7915	ALDH5A1	OMIM:271980
HP:0012638	Abnormal nervous system physiology	3028	HSD17B10	ORPHA:391428
HP:0012638	Abnormal nervous system physiology	85465	SELENOI	ORPHA:506353
HP:0012638	Abnormal nervous system physiology	4524	MTHFR	ORPHA:395
HP:0012638	Abnormal nervous system physiology	55187	VPS13D	ORPHA:95434
HP:0012638	Abnormal nervous system physiology	27072	VPS41	ORPHA:95434
HP:0012638	Abnormal nervous system physiology	1513	CTSK	ORPHA:763
HP:0012638	Abnormal nervous system physiology	54828	BCAS3	OMIM:619641
HP:0012638	Abnormal nervous system physiology	443	ASPA	ORPHA:314918
HP:0012638	Abnormal nervous system physiology	55131	RBM28	OMIM:612079
HP:0012638	Abnormal nervous system physiology	25978	CHMP2B	ORPHA:275864
HP:0012638	Abnormal nervous system physiology	2896	GRN	ORPHA:275864
HP:0012638	Abnormal nervous system physiology	54664	TMEM106B	ORPHA:275864
HP:0012638	Abnormal nervous system physiology	54209	TREM2	ORPHA:275864
HP:0012638	Abnormal nervous system physiology	3897	L1CAM	ORPHA:306617
HP:0012638	Abnormal nervous system physiology	3178	HNRNPA1	ORPHA:52430
HP:0012638	Abnormal nervous system physiology	3181	HNRNPA2B1	ORPHA:52430
HP:0012638	Abnormal nervous system physiology	3060	HCRT	OMIM:161400
HP:0012638	Abnormal nervous system physiology	3060	HCRT	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	1512	CTSH	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	5032	P2RY11	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	4340	MOG	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	22891	ZNF365	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	7292	TNFSF4	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	6492	SIM1	ORPHA:398079
HP:0012638	Abnormal nervous system physiology	5981	RFC1	OMIM:614575
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	ORPHA:398069
HP:0012638	Abnormal nervous system physiology	1786	DNMT1	OMIM:604121
HP:0012638	Abnormal nervous system physiology	4221	MEN1	ORPHA:97279
HP:0012638	Abnormal nervous system physiology	7528	YY1	ORPHA:97279
HP:0012638	Abnormal nervous system physiology	51128	SAR1B	OMIM:246700
HP:0012638	Abnormal nervous system physiology	51062	ATL1	ORPHA:100984
HP:0012638	Abnormal nervous system physiology	23345	SYNE1	ORPHA:88644
HP:0012638	Abnormal nervous system physiology	123606	NIPA1	ORPHA:100988
HP:0012638	Abnormal nervous system physiology	59335	PRDM12	OMIM:616488
HP:0012638	Abnormal nervous system physiology	2617	GARS1	ORPHA:139536
HP:0012638	Abnormal nervous system physiology	4803	NGF	OMIM:608654
HP:0012638	Abnormal nervous system physiology	25894	PLEKHG4	ORPHA:98765
HP:0012638	Abnormal nervous system physiology	4669	NAGLU	OMIM:616491
HP:0012638	Abnormal nervous system physiology	6652	SORD	OMIM:618912
HP:0012638	Abnormal nervous system physiology	5192	PEX10	OMIM:614871
HP:0012638	Abnormal nervous system physiology	2259	FGF14	OMIM:193003
HP:0012638	Abnormal nervous system physiology	146227	BEAN1	ORPHA:217012
HP:0012638	Abnormal nervous system physiology	137492	VPS37A	ORPHA:319199
HP:0012638	Abnormal nervous system physiology	137492	VPS37A	OMIM:614898
HP:0012638	Abnormal nervous system physiology	11284	PNKP	OMIM:616267
HP:0012638	Abnormal nervous system physiology	9692	PRORP	OMIM:619737
HP:0012638	Abnormal nervous system physiology	4099	MAG	ORPHA:459056
HP:0012638	Abnormal nervous system physiology	4556	MT-TE	ORPHA:2596
HP:0012638	Abnormal nervous system physiology	5351	PLOD1	ORPHA:1900
HP:0012638	Abnormal nervous system physiology	5832	ALDH18A1	OMIM:601162
HP:0012638	Abnormal nervous system physiology	6712	SPTBN2	OMIM:600224
HP:0012638	Abnormal nervous system physiology	59345	GNB4	OMIM:615185
HP:0012638	Abnormal nervous system physiology	23503	ZFYVE26	ORPHA:100996
HP:0012638	Abnormal nervous system physiology	2583	B4GALNT1	OMIM:609195
HP:0012638	Abnormal nervous system physiology	2065	ERBB3	OMIM:243180
HP:0012638	Abnormal nervous system physiology	6342	SCP2	OMIM:613724
HP:0012638	Abnormal nervous system physiology	9927	MFN2	ORPHA:99947
HP:0012638	Abnormal nervous system physiology	5376	PMP22	ORPHA:3115
HP:0012638	Abnormal nervous system physiology	10456	HAX1	OMIM:610738
HP:0012638	Abnormal nervous system physiology	10749	KIF1C	ORPHA:397946
HP:0012638	Abnormal nervous system physiology	10749	KIF1C	OMIM:611302
HP:0012638	Abnormal nervous system physiology	5654	HTRA1	ORPHA:199354
HP:0012638	Abnormal nervous system physiology	92935	MARS2	OMIM:611390
HP:0012638	Abnormal nervous system physiology	92935	MARS2	ORPHA:314603
HP:0012638	Abnormal nervous system physiology	56978	PRDM8	OMIM:616640
HP:0012638	Abnormal nervous system physiology	55149	MTPAP	OMIM:613672
HP:0012638	Abnormal nervous system physiology	10381	TUBB3	ORPHA:300570
HP:0012638	Abnormal nervous system physiology	27249	MMADHC	OMIM:277410
HP:0012638	Abnormal nervous system physiology	26115	TANC2	OMIM:618906
HP:0012638	Abnormal nervous system physiology	6905	TBCE	ORPHA:496756
HP:0012638	Abnormal nervous system physiology	51218	GLRX5	OMIM:616859
HP:0012638	Abnormal nervous system physiology	1297	COL9A1	ORPHA:166002
HP:0012638	Abnormal nervous system physiology	1300	COL10A1	ORPHA:174
HP:0012638	Abnormal nervous system physiology	1300	COL10A1	OMIM:156500
HP:0012638	Abnormal nervous system physiology	9241	NOG	OMIM:186500
HP:0012638	Abnormal nervous system physiology	2335	FN1	OMIM:184255
HP:0012638	Abnormal nervous system physiology	6569	SLC34A1	ORPHA:157215
HP:0012638	Abnormal nervous system physiology	374393	FAM111B	OMIM:615704
HP:0012638	Abnormal nervous system physiology	64208	POPDC3	OMIM:618848
HP:0012638	Abnormal nervous system physiology	5122	PCSK1	ORPHA:71528
HP:0012638	Abnormal nervous system physiology	4160	MC4R	ORPHA:71529
HP:0012638	Abnormal nervous system physiology	4160	MC4R	OMIM:618406
HP:0012638	Abnormal nervous system physiology	5443	POMC	ORPHA:71526
HP:0012638	Abnormal nervous system physiology	5443	POMC	OMIM:609734
HP:0012638	Abnormal nervous system physiology	3952	LEP	ORPHA:66628
HP:0012638	Abnormal nervous system physiology	3952	LEP	OMIM:614962
HP:0012638	Abnormal nervous system physiology	54463	RETREG1	OMIM:201300
HP:0012638	Abnormal nervous system physiology	65125	WNK1	OMIM:201300
HP:0012638	Abnormal nervous system physiology	1763	DNA2	OMIM:615156
HP:0012638	Abnormal nervous system physiology	1763	DNA2	ORPHA:352470
HP:0012638	Abnormal nervous system physiology	6452	SH3BP2	ORPHA:184
HP:0012638	Abnormal nervous system physiology	650	BMP2	OMIM:617877
HP:0012638	Abnormal nervous system physiology	9401	RECQL4	OMIM:218600
HP:0012638	Abnormal nervous system physiology	1906	EDN1	ORPHA:137888
HP:0012638	Abnormal nervous system physiology	65250	CPLANE1	ORPHA:65684
HP:0012638	Abnormal nervous system physiology	57562	CEP126	ORPHA:65684
HP:0012638	Abnormal nervous system physiology	9342	SNAP29	ORPHA:66631
HP:0012638	Abnormal nervous system physiology	50846	DHH	ORPHA:168563
HP:0012638	Abnormal nervous system physiology	7072	TIA1	OMIM:604454
HP:0012638	Abnormal nervous system physiology	7072	TIA1	ORPHA:603
HP:0012638	Abnormal nervous system physiology	50717	DCAF8	OMIM:610100
HP:0012638	Abnormal nervous system physiology	7879	RAB7A	OMIM:600882
HP:0012638	Abnormal nervous system physiology	1959	EGR2	OMIM:607678
HP:0012638	Abnormal nervous system physiology	1959	EGR2	OMIM:145900
HP:0012638	Abnormal nervous system physiology	23095	KIF1B	OMIM:118210
HP:0012638	Abnormal nervous system physiology	90678	LRSAM1	OMIM:614436
HP:0012638	Abnormal nervous system physiology	2273	FHL1	OMIM:300695
HP:0012638	Abnormal nervous system physiology	57449	PLEKHG5	OMIM:615376
HP:0012638	Abnormal nervous system physiology	64423	INF2	OMIM:614455
HP:0012638	Abnormal nervous system physiology	1337	COX6A1	OMIM:616039
HP:0012638	Abnormal nervous system physiology	8729	GBF1	OMIM:606483
HP:0012638	Abnormal nervous system physiology	10126	DNAL4	ORPHA:238722
HP:0012638	Abnormal nervous system physiology	9423	NTN1	ORPHA:238722
HP:0012638	Abnormal nervous system physiology	3939	LDHA	ORPHA:284426
HP:0012638	Abnormal nervous system physiology	5913	RAPSN	OMIM:616326
HP:0012638	Abnormal nervous system physiology	5913	RAPSN	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	811	CALR	ORPHA:824
HP:0012638	Abnormal nervous system physiology	4352	MPL	ORPHA:824
HP:0012638	Abnormal nervous system physiology	3717	JAK2	ORPHA:824
HP:0012638	Abnormal nervous system physiology	54790	TET2	ORPHA:824
HP:0012638	Abnormal nervous system physiology	1785	DNM2	OMIM:160150
HP:0012638	Abnormal nervous system physiology	64419	MTMR14	OMIM:160150
HP:0012638	Abnormal nervous system physiology	8838	CCN6	ORPHA:1159
HP:0012638	Abnormal nervous system physiology	4780	NFE2L2	OMIM:617744
HP:0012638	Abnormal nervous system physiology	221264	AK9	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	285489	DOK7	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	285489	DOK7	OMIM:254300
HP:0012638	Abnormal nervous system physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0012638	Abnormal nervous system physiology	57104	PNPLA2	OMIM:610717
HP:0012638	Abnormal nervous system physiology	57104	PNPLA2	ORPHA:98908
HP:0012638	Abnormal nervous system physiology	50515	CHST11	OMIM:618167
HP:0012638	Abnormal nervous system physiology	55033	FKBP14	ORPHA:300179
HP:0012638	Abnormal nervous system physiology	79572	ATP13A3	OMIM:265400
HP:0012638	Abnormal nervous system physiology	7040	TGFB1	OMIM:131300
HP:0012638	Abnormal nervous system physiology	5213	PFKM	OMIM:232800
HP:0012638	Abnormal nervous system physiology	55750	AGK	OMIM:212350
HP:0012638	Abnormal nervous system physiology	23479	ISCU	OMIM:255125
HP:0012638	Abnormal nervous system physiology	55863	TMEM126B	OMIM:618250
HP:0012638	Abnormal nervous system physiology	844	CASQ1	OMIM:616231
HP:0012638	Abnormal nervous system physiology	9531	BAG3	OMIM:612954
HP:0012638	Abnormal nervous system physiology	1509	CTSD	OMIM:610127
HP:0012638	Abnormal nervous system physiology	6399	TRAPPC2	ORPHA:93284
HP:0012638	Abnormal nervous system physiology	9630	GNA14	ORPHA:1063
HP:0012638	Abnormal nervous system physiology	7389	UROD	ORPHA:95159
HP:0012638	Abnormal nervous system physiology	7390	UROS	ORPHA:79277
HP:0012638	Abnormal nervous system physiology	590	BCHE	ORPHA:132
HP:0012638	Abnormal nervous system physiology	966	CD59	OMIM:612300
HP:0012638	Abnormal nervous system physiology	8148	TAF15	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5445	PON2	ORPHA:803
HP:0012638	Abnormal nervous system physiology	55830	GLT8D1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	10891	PPARGC1A	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5444	PON1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5446	PON3	ORPHA:803
HP:0012638	Abnormal nervous system physiology	283	ANG	ORPHA:803
HP:0012638	Abnormal nervous system physiology	2043	EPHA4	ORPHA:803
HP:0012638	Abnormal nervous system physiology	1610	DAO	ORPHA:803
HP:0012638	Abnormal nervous system physiology	2066	ERBB4	ORPHA:803
HP:0012638	Abnormal nervous system physiology	23025	UNC13A	ORPHA:803
HP:0012638	Abnormal nervous system physiology	1758	DMP1	ORPHA:289176
HP:0012638	Abnormal nervous system physiology	63901	FAM111A	ORPHA:93325
HP:0012638	Abnormal nervous system physiology	84876	ORAI1	ORPHA:2593
HP:0012638	Abnormal nervous system physiology	10568	SLC34A2	ORPHA:60025
HP:0012638	Abnormal nervous system physiology	8029	CUBN	OMIM:261100
HP:0012638	Abnormal nervous system physiology	2694	CBLIF	OMIM:261000
HP:0012638	Abnormal nervous system physiology	9488	PIGB	OMIM:618580
HP:0012638	Abnormal nervous system physiology	5361	PLXNA1	OMIM:619955
HP:0012638	Abnormal nervous system physiology	4618	MYF6	ORPHA:169189
HP:0012638	Abnormal nervous system physiology	23321	TRIM2	OMIM:615490
HP:0012638	Abnormal nervous system physiology	2064	ERBB2	OMIM:619465
HP:0012638	Abnormal nervous system physiology	4337	MOCS1	OMIM:252150
HP:0012638	Abnormal nervous system physiology	288	ANK3	OMIM:615493
HP:0012638	Abnormal nervous system physiology	288	ANK3	ORPHA:356996
HP:0012638	Abnormal nervous system physiology	10058	ABCB6	OMIM:609153
HP:0012638	Abnormal nervous system physiology	100134444	KCNJ18	OMIM:613239
HP:0012638	Abnormal nervous system physiology	2184	FAH	OMIM:276700
HP:0012638	Abnormal nervous system physiology	3759	KCNJ2	OMIM:170390
HP:0012638	Abnormal nervous system physiology	3759	KCNJ2	ORPHA:37553
HP:0012638	Abnormal nervous system physiology	779	CACNA1S	OMIM:170400
HP:0012638	Abnormal nervous system physiology	779	CACNA1S	OMIM:188580
HP:0012638	Abnormal nervous system physiology	3762	KCNJ5	ORPHA:37553
HP:0012638	Abnormal nervous system physiology	8643	PTCH2	ORPHA:377
HP:0012638	Abnormal nervous system physiology	6662	SOX9	ORPHA:140
HP:0012638	Abnormal nervous system physiology	3972	LHB	OMIM:228300
HP:0012638	Abnormal nervous system physiology	558	AXL	OMIM:146110
HP:0012638	Abnormal nervous system physiology	2798	GNRHR	OMIM:146110
HP:0012638	Abnormal nervous system physiology	2796	GNRH1	OMIM:146110
HP:0012638	Abnormal nervous system physiology	10011	SRA1	OMIM:146110
HP:0012638	Abnormal nervous system physiology	219844	HYLS1	ORPHA:2189
HP:0012638	Abnormal nervous system physiology	374654	KIF7	ORPHA:2189
HP:0012638	Abnormal nervous system physiology	2488	FSHB	OMIM:229070
HP:0012638	Abnormal nervous system physiology	10194	TSHZ1	OMIM:607842
HP:0012638	Abnormal nervous system physiology	23347	SMCHD1	ORPHA:2250
HP:0012638	Abnormal nervous system physiology	23767	FLRT3	OMIM:615271
HP:0012638	Abnormal nervous system physiology	23767	FLRT3	ORPHA:478
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	OMIM:244200
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	ORPHA:478
HP:0012638	Abnormal nervous system physiology	11020	IFT27	OMIM:615996
HP:0012638	Abnormal nervous system physiology	54585	LZTFL1	OMIM:615994
HP:0012638	Abnormal nervous system physiology	80184	CEP290	OMIM:611755
HP:0012638	Abnormal nervous system physiology	60675	PROK2	OMIM:610628
HP:0012638	Abnormal nervous system physiology	60675	PROK2	ORPHA:478
HP:0012638	Abnormal nervous system physiology	3730	ANOS1	OMIM:308700
HP:0012638	Abnormal nervous system physiology	3730	ANOS1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	1656	DDX6	OMIM:618653
HP:0012638	Abnormal nervous system physiology	81848	SPRY4	OMIM:615266
HP:0012638	Abnormal nervous system physiology	81848	SPRY4	ORPHA:478
HP:0012638	Abnormal nervous system physiology	109	ADCY3	OMIM:617885
HP:0012638	Abnormal nervous system physiology	10371	SEMA3A	OMIM:614897
HP:0012638	Abnormal nervous system physiology	10371	SEMA3A	ORPHA:478
HP:0012638	Abnormal nervous system physiology	26012	NSMF	OMIM:614838
HP:0012638	Abnormal nervous system physiology	79625	NDNF	ORPHA:478
HP:0012638	Abnormal nervous system physiology	389549	FEZF1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	1630	DCC	ORPHA:478
HP:0012638	Abnormal nervous system physiology	54756	IL17RD	ORPHA:478
HP:0012638	Abnormal nervous system physiology	6663	SOX10	ORPHA:478
HP:0012638	Abnormal nervous system physiology	285025	CCDC141	ORPHA:478
HP:0012638	Abnormal nervous system physiology	1848	DUSP6	ORPHA:478
HP:0012638	Abnormal nervous system physiology	6870	TACR3	ORPHA:478
HP:0012638	Abnormal nervous system physiology	55717	WDR11	ORPHA:478
HP:0012638	Abnormal nervous system physiology	9394	HS6ST1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	8820	HESX1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	8822	FGF17	ORPHA:478
HP:0012638	Abnormal nervous system physiology	9750	RIPOR2	OMIM:616515
HP:0012638	Abnormal nervous system physiology	9381	OTOF	OMIM:601071
HP:0012638	Abnormal nervous system physiology	7841	MOGS	ORPHA:79330
HP:0012638	Abnormal nervous system physiology	60482	SLC5A7	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	4649	MYO9A	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	1305	COL13A1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	1103	CHAT	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6576	SLC25A1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6843	VAMP1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	375790	AGRN	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	127833	SYT2	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6572	SLC18A3	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6616	SNAP25	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	219285	SAMD9L	OMIM:159550
HP:0012638	Abnormal nervous system physiology	56006	SMG9	OMIM:616920
HP:0012638	Abnormal nervous system physiology	4361	MRE11	ORPHA:251347
HP:0012638	Abnormal nervous system physiology	131669	UROC1	ORPHA:210128
HP:0012638	Abnormal nervous system physiology	8492	PRSS12	OMIM:249500
HP:0012638	Abnormal nervous system physiology	4081	MAB21L1	OMIM:618479
HP:0012638	Abnormal nervous system physiology	57468	SLC12A5	OMIM:616645
HP:0012638	Abnormal nervous system physiology	50485	SMARCAL1	ORPHA:1830
HP:0012638	Abnormal nervous system physiology	28962	OSTM1	ORPHA:85179
HP:0012638	Abnormal nervous system physiology	10312	TCIRG1	OMIM:259700
HP:0012638	Abnormal nervous system physiology	10312	TCIRG1	ORPHA:667
HP:0012638	Abnormal nervous system physiology	5781	PTPN11	ORPHA:2499
HP:0012638	Abnormal nervous system physiology	1493	CTLA4	ORPHA:900
HP:0012638	Abnormal nervous system physiology	26191	PTPN22	ORPHA:900
HP:0012638	Abnormal nervous system physiology	3115	HLA-DPB1	ORPHA:900
HP:0012638	Abnormal nervous system physiology	5657	PRTN3	ORPHA:900
HP:0012638	Abnormal nervous system physiology	3113	HLA-DPA1	ORPHA:900
HP:0012638	Abnormal nervous system physiology	1776	DNASE1L3	ORPHA:36412
HP:0012638	Abnormal nervous system physiology	1186	CLCN7	ORPHA:667
HP:0012638	Abnormal nervous system physiology	1186	CLCN7	ORPHA:53
HP:0012638	Abnormal nervous system physiology	29887	SNX10	ORPHA:667
HP:0012638	Abnormal nervous system physiology	8600	TNFSF11	ORPHA:667
HP:0012638	Abnormal nervous system physiology	54949	SDHAF2	OMIM:601650
HP:0012638	Abnormal nervous system physiology	64072	CDH23	ORPHA:2965
HP:0012638	Abnormal nervous system physiology	64072	CDH23	ORPHA:91347
HP:0012638	Abnormal nervous system physiology	9049	AIP	ORPHA:2965
HP:0012638	Abnormal nervous system physiology	1130	LYST	OMIM:214500
HP:0012638	Abnormal nervous system physiology	1130	LYST	ORPHA:167
HP:0012638	Abnormal nervous system physiology	6299	SALL1	ORPHA:857
HP:0012638	Abnormal nervous system physiology	51339	DACT1	ORPHA:857
HP:0012638	Abnormal nervous system physiology	3662	IRF4	ORPHA:3452
HP:0012638	Abnormal nervous system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0012638	Abnormal nervous system physiology	9723	SEMA3E	ORPHA:138
HP:0012638	Abnormal nervous system physiology	101929726	MYMX	ORPHA:1358
HP:0012638	Abnormal nervous system physiology	114548	NLRP3	ORPHA:575
HP:0012638	Abnormal nervous system physiology	672	BRCA1	ORPHA:84
HP:0012638	Abnormal nervous system physiology	10459	MAD2L2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	7516	XRCC2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	29089	UBE2T	ORPHA:84
HP:0012638	Abnormal nervous system physiology	675	BRCA2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55120	FANCL	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2177	FANCD2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2175	FANCA	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2187	FANCB	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2176	FANCC	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2178	FANCE	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2188	FANCF	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2189	FANCG	ORPHA:84
HP:0012638	Abnormal nervous system physiology	5888	RAD51	ORPHA:84
HP:0012638	Abnormal nervous system physiology	5889	RAD51C	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55159	RFWD3	ORPHA:84
HP:0012638	Abnormal nervous system physiology	83990	BRIP1	ORPHA:84
HP:0012638	Abnormal nervous system physiology	57697	FANCM	ORPHA:84
HP:0012638	Abnormal nervous system physiology	79728	PALB2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	84464	SLX4	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2072	ERCC4	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55215	FANCI	ORPHA:84
HP:0012638	Abnormal nervous system physiology	157570	ESCO2	OMIM:268300
HP:0012638	Abnormal nervous system physiology	4615	MYD88	ORPHA:33226
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:65285
HP:0012638	Abnormal nervous system physiology	4893	NRAS	OMIM:249400
HP:0012638	Abnormal nervous system physiology	91147	TMEM67	ORPHA:140976
HP:0012638	Abnormal nervous system physiology	3145	HMBS	ORPHA:79276
HP:0012638	Abnormal nervous system physiology	149233	IL23R	ORPHA:117
HP:0012638	Abnormal nervous system physiology	6775	STAT4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3586	IL10	ORPHA:117
HP:0012638	Abnormal nervous system physiology	4210	MEFV	ORPHA:117
HP:0012638	Abnormal nervous system physiology	1230	CCR1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	355	FAS	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3592	IL12A	ORPHA:117
HP:0012638	Abnormal nervous system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	7099	TLR4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3459	IFNGR1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	720	C4A	ORPHA:117
HP:0012638	Abnormal nervous system physiology	337867	UBAC2	ORPHA:117
HP:0012638	Abnormal nervous system physiology	51752	ERAP1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	8302	KLRC4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	4000	LMNA	ORPHA:2348
HP:0012638	Abnormal nervous system physiology	6304	SATB1	OMIM:619229
HP:0012638	Abnormal nervous system physiology	8869	ST3GAL5	OMIM:609056
HP:0012638	Abnormal nervous system physiology	5700	PSMC1	OMIM:620071
HP:0012638	Abnormal nervous system physiology	55958	KLHL9	ORPHA:399081
HP:0012638	Abnormal nervous system physiology	5375	PMP2	OMIM:618279
HP:0012638	Abnormal nervous system physiology	10516	FBLN5	OMIM:619764
HP:0012638	Abnormal nervous system physiology	10613	ERLIN1	OMIM:615681
HP:0012638	Abnormal nervous system physiology	8988	HSPB3	OMIM:613376
HP:0012638	Abnormal nervous system physiology	7453	WARS1	OMIM:617721
HP:0012638	Abnormal nervous system physiology	6606	SMN1	OMIM:253400
HP:0012638	Abnormal nervous system physiology	6607	SMN2	OMIM:253400
HP:0012638	Abnormal nervous system physiology	6584	SLC22A5	ORPHA:158
HP:0012638	Abnormal nervous system physiology	95	ACY1	OMIM:609924
HP:0012638	Abnormal nervous system physiology	5903	RANBP2	ORPHA:88619
HP:0012638	Abnormal nervous system physiology	745	MYRF	OMIM:618113
HP:0012638	Abnormal nervous system physiology	58472	SQOR	OMIM:619221
HP:0012638	Abnormal nervous system physiology	84342	COG8	ORPHA:95428
HP:0012638	Abnormal nervous system physiology	498	ATP5F1A	OMIM:620358
HP:0012638	Abnormal nervous system physiology	7187	TRAF3	OMIM:614849
HP:0012638	Abnormal nervous system physiology	10166	SLC25A15	ORPHA:415
HP:0012638	Abnormal nervous system physiology	10166	SLC25A15	OMIM:238970
HP:0012638	Abnormal nervous system physiology	5095	PCCA	OMIM:606054
HP:0012638	Abnormal nervous system physiology	5096	PCCB	OMIM:606054
HP:0012638	Abnormal nervous system physiology	10558	SPTLC1	OMIM:162400
HP:0012638	Abnormal nervous system physiology	4547	MTTP	ORPHA:14
HP:0012638	Abnormal nervous system physiology	9420	CYP7B1	OMIM:270800
HP:0012638	Abnormal nervous system physiology	10397	NDRG1	OMIM:601455
HP:0012638	Abnormal nervous system physiology	56652	TWNK	OMIM:607459
HP:0012638	Abnormal nervous system physiology	56652	TWNK	ORPHA:70595
HP:0012638	Abnormal nervous system physiology	55703	POLR3B	OMIM:619742
HP:0012638	Abnormal nervous system physiology	547	KIF1A	OMIM:614213
HP:0012638	Abnormal nervous system physiology	22880	MORC2	OMIM:616688
HP:0012638	Abnormal nervous system physiology	7515	XRCC1	OMIM:617633
HP:0012638	Abnormal nervous system physiology	55775	TDP1	OMIM:607250
HP:0012638	Abnormal nervous system physiology	55775	TDP1	ORPHA:94124
HP:0012638	Abnormal nervous system physiology	55157	DARS2	ORPHA:137898
HP:0012638	Abnormal nervous system physiology	5173	PDYN	OMIM:610245
HP:0012638	Abnormal nervous system physiology	26580	BSCL2	OMIM:270685
HP:0012638	Abnormal nervous system physiology	11128	POLR3A	ORPHA:447896
HP:0012638	Abnormal nervous system physiology	89970	RSPRY1	ORPHA:457395
HP:0012638	Abnormal nervous system physiology	1806	DPYD	ORPHA:1675
HP:0012638	Abnormal nervous system physiology	6872	TAF1	ORPHA:480907
HP:0012638	Abnormal nervous system physiology	171023	ASXL1	ORPHA:97297
HP:0012638	Abnormal nervous system physiology	79813	EHMT1	ORPHA:261652
HP:0012638	Abnormal nervous system physiology	58508	KMT2C	ORPHA:261652
HP:0012638	Abnormal nervous system physiology	8925	HERC1	ORPHA:457359
HP:0012638	Abnormal nervous system physiology	25970	SH2B1	ORPHA:261197
HP:0012638	Abnormal nervous system physiology	57492	ARID1B	OMIM:135900
HP:0012638	Abnormal nervous system physiology	2892	GRIA3	ORPHA:364028
HP:0012638	Abnormal nervous system physiology	23126	POGZ	ORPHA:468678
HP:0012638	Abnormal nervous system physiology	55526	DHTKD1	OMIM:615025
HP:0012638	Abnormal nervous system physiology	3756	KCNH1	OMIM:135500
HP:0012638	Abnormal nervous system physiology	145173	B3GLCT	OMIM:261540
HP:0012638	Abnormal nervous system physiology	7252	TSHB	OMIM:275100
HP:0012638	Abnormal nervous system physiology	953	ENTPD1	ORPHA:401810
HP:0012638	Abnormal nervous system physiology	4796	TONSL	ORPHA:93357
HP:0012638	Abnormal nervous system physiology	55249	YY1AP1	ORPHA:79094
HP:0012638	Abnormal nervous system physiology	318	NUDT2	OMIM:619844
HP:0012638	Abnormal nervous system physiology	51244	CCDC174	OMIM:616816
HP:0012638	Abnormal nervous system physiology	81624	DIAPH3	OMIM:609129
HP:0012638	Abnormal nervous system physiology	64856	VWA1	OMIM:619216
HP:0012638	Abnormal nervous system physiology	388015	RTL1	ORPHA:254531
HP:0012638	Abnormal nervous system physiology	388015	RTL1	ORPHA:96184
HP:0012638	Abnormal nervous system physiology	388015	RTL1	ORPHA:254525
HP:0012638	Abnormal nervous system physiology	8788	DLK1	ORPHA:254531
HP:0012638	Abnormal nervous system physiology	8788	DLK1	ORPHA:96184
HP:0012638	Abnormal nervous system physiology	8788	DLK1	ORPHA:254525
HP:0012638	Abnormal nervous system physiology	55384	MEG3	ORPHA:254531
HP:0012638	Abnormal nervous system physiology	55384	MEG3	ORPHA:96184
HP:0012638	Abnormal nervous system physiology	55384	MEG3	ORPHA:254525
HP:0012638	Abnormal nervous system physiology	10681	GNB5	OMIM:617182
HP:0012638	Abnormal nervous system physiology	10681	GNB5	ORPHA:542306
HP:0012638	Abnormal nervous system physiology	1523	CUX1	OMIM:618330
HP:0012638	Abnormal nervous system physiology	51109	RDH11	ORPHA:436245
HP:0012638	Abnormal nervous system physiology	128	ADH5	OMIM:619151
HP:0012638	Abnormal nervous system physiology	8036	SHOC2	OMIM:607721
HP:0012638	Abnormal nervous system physiology	1024	CDK8	OMIM:618748
HP:0012638	Abnormal nervous system physiology	91801	ALKBH8	OMIM:618504
HP:0012638	Abnormal nervous system physiology	7068	THRB	OMIM:274300
HP:0012638	Abnormal nervous system physiology	7068	THRB	OMIM:188570
HP:0012638	Abnormal nervous system physiology	118987	PDZD8	OMIM:620021
HP:0012638	Abnormal nervous system physiology	55209	SETD5	ORPHA:404440
HP:0012638	Abnormal nervous system physiology	116931	MED12L	OMIM:618872
HP:0012638	Abnormal nervous system physiology	3199	HOXA2	ORPHA:83463
HP:0012638	Abnormal nervous system physiology	55790	CSGALNACT1	OMIM:618870
HP:0012638	Abnormal nervous system physiology	80155	NAA15	OMIM:617787
HP:0012638	Abnormal nervous system physiology	5689	PSMB1	OMIM:620038
HP:0012638	Abnormal nervous system physiology	57589	RIC1	OMIM:618761
HP:0012638	Abnormal nervous system physiology	412	STS	ORPHA:281090
HP:0012638	Abnormal nervous system physiology	412	STS	ORPHA:461
HP:0012638	Abnormal nervous system physiology	1009	CDH11	OMIM:619736
HP:0012638	Abnormal nervous system physiology	3973	LHCGR	ORPHA:3000
HP:0012638	Abnormal nervous system physiology	23036	ZNF292	OMIM:619188
HP:0012638	Abnormal nervous system physiology	57178	ZMIZ1	OMIM:618659
HP:0012638	Abnormal nervous system physiology	26057	ANKRD17	OMIM:619504
HP:0012638	Abnormal nervous system physiology	3981	LIG4	ORPHA:235
HP:0012638	Abnormal nervous system physiology	30011	SH3KBP1	OMIM:300310
HP:0012638	Abnormal nervous system physiology	7025	NR2F1	ORPHA:401777
HP:0012638	Abnormal nervous system physiology	8493	PPM1D	OMIM:617450
HP:0012638	Abnormal nervous system physiology	55719	SLF2	OMIM:620184
HP:0012638	Abnormal nervous system physiology	2312	FLG	ORPHA:461
HP:0012638	Abnormal nervous system physiology	1028	CDKN1C	ORPHA:397590
HP:0012638	Abnormal nervous system physiology	5324	PLAG1	ORPHA:397590
HP:0012638	Abnormal nervous system physiology	8091	HMGA2	ORPHA:397590
HP:0012638	Abnormal nervous system physiology	200424	TET3	OMIM:618798
HP:0012638	Abnormal nervous system physiology	1107	CHD3	OMIM:618205
HP:0012638	Abnormal nervous system physiology	5587	PRKD1	OMIM:617364
HP:0012638	Abnormal nervous system physiology	1642	DDB1	OMIM:619426
HP:0012638	Abnormal nervous system physiology	196528	ARID2	OMIM:617808
HP:0012638	Abnormal nervous system physiology	1801	DPH1	ORPHA:459061
HP:0012638	Abnormal nervous system physiology	3720	JARID2	OMIM:620098
HP:0012638	Abnormal nervous system physiology	3479	IGF1	ORPHA:73272
HP:0012638	Abnormal nervous system physiology	6909	TBX2	OMIM:618223
HP:0012638	Abnormal nervous system physiology	30000	TNPO2	OMIM:619556
HP:0012638	Abnormal nervous system physiology	54517	PUS7	OMIM:618342
HP:0012638	Abnormal nervous system physiology	3067	HDC	OMIM:137580
HP:0012638	Abnormal nervous system physiology	114798	SLITRK1	OMIM:137580
HP:0012638	Abnormal nervous system physiology	23030	KDM4B	OMIM:619320
HP:0012638	Abnormal nervous system physiology	11151	CORO1A	OMIM:615401
HP:0012638	Abnormal nervous system physiology	55784	MCTP2	ORPHA:1596
HP:0012638	Abnormal nervous system physiology	1815	DRD4	OMIM:143465
HP:0012638	Abnormal nervous system physiology	1741	DLG3	OMIM:300850
HP:0012638	Abnormal nervous system physiology	7703	PCGF2	OMIM:618371
HP:0012638	Abnormal nervous system physiology	6907	TBL1X	OMIM:301033
HP:0012638	Abnormal nervous system physiology	79576	NKAP	OMIM:301039
HP:0012638	Abnormal nervous system physiology	121278	TPH2	OMIM:613003
HP:0012638	Abnormal nervous system physiology	51729	WBP11	OMIM:619227
HP:0012638	Abnormal nervous system physiology	7074	TIAM1	OMIM:619908
HP:0012638	Abnormal nervous system physiology	23476	BRD4	ORPHA:199
HP:0012638	Abnormal nervous system physiology	5885	RAD21	ORPHA:199
HP:0012638	Abnormal nervous system physiology	4659	PPP1R12A	OMIM:618820
HP:0012638	Abnormal nervous system physiology	63932	STEEP1	OMIM:301013
HP:0012638	Abnormal nervous system physiology	22871	NLGN1	OMIM:618830
HP:0012638	Abnormal nervous system physiology	23112	TNRC6B	OMIM:619243
HP:0012638	Abnormal nervous system physiology	51780	KDM3B	OMIM:618846
HP:0012638	Abnormal nervous system physiology	51317	PHF21A	OMIM:618725
HP:0012638	Abnormal nervous system physiology	203190	LGI3	OMIM:620007
HP:0012638	Abnormal nervous system physiology	4683	NBN	ORPHA:647
HP:0012638	Abnormal nervous system physiology	55553	SOX6	OMIM:618971
HP:0012638	Abnormal nervous system physiology	27161	AGO2	OMIM:619149
HP:0012638	Abnormal nervous system physiology	3832	KIF11	OMIM:152950
HP:0012638	Abnormal nervous system physiology	84148	KAT8	OMIM:618974
HP:0012638	Abnormal nervous system physiology	64682	ANAPC1	ORPHA:221008
HP:0012638	Abnormal nervous system physiology	55699	IARS2	OMIM:616007
HP:0012638	Abnormal nervous system physiology	85446	ZFHX2	OMIM:147430
HP:0012638	Abnormal nervous system physiology	4358	MPV17	OMIM:256810
HP:0012638	Abnormal nervous system physiology	219854	TMEM218	OMIM:619562
HP:0012638	Abnormal nervous system physiology	11280	SCN11A	OMIM:615548
HP:0012638	Abnormal nervous system physiology	26353	HSPB8	OMIM:608673
HP:0012638	Abnormal nervous system physiology	23204	ARL6IP1	OMIM:615685
HP:0012638	Abnormal nervous system physiology	23204	ARL6IP1	ORPHA:401780
HP:0012638	Abnormal nervous system physiology	4665	NAB2	ORPHA:2126
HP:0012638	Abnormal nervous system physiology	6778	STAT6	ORPHA:2126
HP:0012638	Abnormal nervous system physiology	84334	COA8	ORPHA:436271
HP:0012638	Abnormal nervous system physiology	9255	AIMP1	OMIM:260600
HP:0012638	Abnormal nervous system physiology	35	ACADS	OMIM:201470
HP:0012638	Abnormal nervous system physiology	5264	PHYH	ORPHA:773
HP:0012638	Abnormal nervous system physiology	5191	PEX7	ORPHA:773
HP:0012638	Abnormal nervous system physiology	176	ACAN	ORPHA:435804
HP:0012638	Abnormal nervous system physiology	55331	ACER3	OMIM:617762
HP:0012638	Abnormal nervous system physiology	5080	PAX6	ORPHA:893
HP:0012638	Abnormal nervous system physiology	7490	WT1	ORPHA:893
HP:0012638	Abnormal nervous system physiology	1650	DDOST	ORPHA:300536
HP:0012638	Abnormal nervous system physiology	6609	SMPD1	ORPHA:77293
HP:0012638	Abnormal nervous system physiology	1139	CHRNA7	ORPHA:199318
HP:0012638	Abnormal nervous system physiology	1788	DNMT3A	ORPHA:404443
HP:0012638	Abnormal nervous system physiology	1312	COMT	ORPHA:567
HP:0012638	Abnormal nervous system physiology	221037	JMJD1C	ORPHA:567
HP:0012638	Abnormal nervous system physiology	2812	GP1BB	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6239	RREB1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6899	TBX1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6899	TBX1	OMIM:188400
HP:0012638	Abnormal nervous system physiology	7290	HIRA	ORPHA:567
HP:0012638	Abnormal nervous system physiology	9632	SEC24C	ORPHA:567
HP:0012638	Abnormal nervous system physiology	7353	UFD1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	421	ARVCF	ORPHA:567
HP:0012638	Abnormal nervous system physiology	2313	FLI1	ORPHA:2308
HP:0012638	Abnormal nervous system physiology	488	ATP2A2	OMIM:124200
HP:0012638	Abnormal nervous system physiology	285362	SUMF1	ORPHA:585
HP:0012638	Abnormal nervous system physiology	285362	SUMF1	OMIM:272200
HP:0012638	Abnormal nervous system physiology	38	ACAT1	ORPHA:134
HP:0012638	Abnormal nervous system physiology	1807	DPYS	OMIM:222748
HP:0012638	Abnormal nervous system physiology	1280	COL2A1	ORPHA:86820
HP:0012638	Abnormal nervous system physiology	55739	NAXD	OMIM:618321
HP:0012638	Abnormal nervous system physiology	6821	SUOX	OMIM:272300
HP:0012638	Abnormal nervous system physiology	25923	ATL3	OMIM:615632
HP:0012638	Abnormal nervous system physiology	8518	ELP1	ORPHA:1764
HP:0012638	Abnormal nervous system physiology	8566	PDXK	OMIM:618511
HP:0012638	Abnormal nervous system physiology	283489	CHAMP1	OMIM:616579
HP:0012638	Abnormal nervous system physiology	3481	IGF2	ORPHA:2128
HP:0012638	Abnormal nervous system physiology	10984	KCNQ1OT1	ORPHA:2128
HP:0012638	Abnormal nervous system physiology	283120	H19	ORPHA:2128
HP:0012638	Abnormal nervous system physiology	8888	MCM3AP	OMIM:618124
HP:0012638	Abnormal nervous system physiology	2200	FBN1	ORPHA:2833
HP:0012638	Abnormal nervous system physiology	9517	SPTLC2	OMIM:613640
HP:0012638	Abnormal nervous system physiology	79628	SH3TC2	ORPHA:99949
HP:0012638	Abnormal nervous system physiology	3315	HSPB1	ORPHA:99940
HP:0012638	Abnormal nervous system physiology	81545	FBXO38	OMIM:615575
HP:0012638	Abnormal nervous system physiology	5165	PDK3	OMIM:300905
HP:0012638	Abnormal nervous system physiology	11155	LDB3	ORPHA:98912
HP:0012638	Abnormal nervous system physiology	4625	MYH7	ORPHA:437572
HP:0012638	Abnormal nervous system physiology	2592	GALT	ORPHA:79239
HP:0012638	Abnormal nervous system physiology	5332	PLCB4	OMIM:614669
HP:0012638	Abnormal nervous system physiology	7314	UBB	ORPHA:99772
HP:0012638	Abnormal nervous system physiology	57822	GRHL3	ORPHA:99772
HP:0012638	Abnormal nervous system physiology	1739	DLG1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	652	BMP4	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	999	CDH1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	9411	ARHGAP29	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	1748	DLX4	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	2773	GNAI3	OMIM:602483
HP:0012638	Abnormal nervous system physiology	7148	TNXB	ORPHA:230839
HP:0012638	Abnormal nervous system physiology	80270	HSD3B7	ORPHA:79301
HP:0012638	Abnormal nervous system physiology	4069	LYZ	OMIM:105200
HP:0012638	Abnormal nervous system physiology	2243	FGA	OMIM:105200
HP:0012638	Abnormal nervous system physiology	335	APOA1	OMIM:105200
HP:0012638	Abnormal nervous system physiology	9180	OSMR	OMIM:105250
HP:0012638	Abnormal nervous system physiology	189	AGXT	OMIM:259900
HP:0012638	Abnormal nervous system physiology	860	RUNX2	ORPHA:1452
HP:0012638	Abnormal nervous system physiology	1291	COL6A1	OMIM:254090
HP:0012638	Abnormal nervous system physiology	1292	COL6A2	OMIM:254090
HP:0012638	Abnormal nervous system physiology	1292	COL6A2	OMIM:255600
HP:0012638	Abnormal nervous system physiology	6495	SIX1	OMIM:113650
HP:0012638	Abnormal nervous system physiology	6495	SIX1	ORPHA:107
HP:0012638	Abnormal nervous system physiology	6495	SIX1	ORPHA:52429
HP:0012638	Abnormal nervous system physiology	56172	ANKH	ORPHA:1522
HP:0012638	Abnormal nervous system physiology	56172	ANKH	OMIM:123000
HP:0012638	Abnormal nervous system physiology	825	CAPN3	OMIM:253600
HP:0012638	Abnormal nervous system physiology	29998	BICRA	OMIM:619325
HP:0012638	Abnormal nervous system physiology	9790	BMS1	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	10054	UBA2	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	3691	ITGB4	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	54567	DLL4	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	4041	LRP5	ORPHA:3416
HP:0012638	Abnormal nervous system physiology	4041	LRP5	ORPHA:2790
HP:0012638	Abnormal nervous system physiology	4041	LRP5	ORPHA:178377
HP:0012638	Abnormal nervous system physiology	22954	TRIM32	OMIM:254110
HP:0012638	Abnormal nervous system physiology	56244	BTNL2	OMIM:612387
HP:0012638	Abnormal nervous system physiology	56244	BTNL2	ORPHA:797
HP:0012638	Abnormal nervous system physiology	7020	TFAP2A	OMIM:113620
HP:0012638	Abnormal nervous system physiology	51651	PTRH2	ORPHA:456312
HP:0012638	Abnormal nervous system physiology	139285	AMER1	ORPHA:2780
HP:0012638	Abnormal nervous system physiology	139285	AMER1	OMIM:300373
HP:0012638	Abnormal nervous system physiology	9791	PTDSS1	ORPHA:2658
HP:0012638	Abnormal nervous system physiology	4534	MTM1	OMIM:310400
HP:0012638	Abnormal nervous system physiology	147912	SIX5	ORPHA:107
HP:0012638	Abnormal nervous system physiology	8898	MTMR2	OMIM:601382
HP:0012638	Abnormal nervous system physiology	6444	SGCD	ORPHA:219
HP:0012638	Abnormal nervous system physiology	203859	ANO5	OMIM:611307
HP:0012638	Abnormal nervous system physiology	203859	ANO5	ORPHA:206549
HP:0012638	Abnormal nervous system physiology	3248	HPGD	ORPHA:2796
HP:0012638	Abnormal nervous system physiology	6578	SLCO2A1	ORPHA:2796
HP:0012638	Abnormal nervous system physiology	3868	KRT16	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	3857	KRT9	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	3848	KRT1	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	51422	PRKAG2	OMIM:261740
HP:0012638	Abnormal nervous system physiology	708	C1QBP	OMIM:617713
HP:0012638	Abnormal nervous system physiology	57176	VARS2	OMIM:615917
HP:0012638	Abnormal nervous system physiology	1802	DPH2	OMIM:620062
HP:0012638	Abnormal nervous system physiology	8812	CCNK	OMIM:618147
HP:0012638	Abnormal nervous system physiology	7862	BRPF1	OMIM:617333
HP:0012638	Abnormal nervous system physiology	160418	TMTC3	OMIM:617255
HP:0012638	Abnormal nervous system physiology	5447	POR	ORPHA:95699
HP:0012638	Abnormal nervous system physiology	9871	SEC24D	OMIM:616294
HP:0012638	Abnormal nervous system physiology	4849	CNOT3	OMIM:618672
HP:0012638	Abnormal nervous system physiology	119559	SFXN4	OMIM:615578
HP:0012638	Abnormal nervous system physiology	96459	FNIP1	OMIM:619705
HP:0012638	Abnormal nervous system physiology	166378	AFG2A	OMIM:616577
HP:0012638	Abnormal nervous system physiology	7469	NELFA	ORPHA:280
HP:0012638	Abnormal nervous system physiology	7468	NSD2	ORPHA:280
HP:0012638	Abnormal nervous system physiology	7468	NSD2	OMIM:194190
HP:0012638	Abnormal nervous system physiology	1501	CTNND2	ORPHA:281
HP:0012638	Abnormal nervous system physiology	9037	SEMA5A	ORPHA:281
HP:0012638	Abnormal nervous system physiology	84314	TMEM107	OMIM:617563
HP:0012638	Abnormal nervous system physiology	4247	MGAT2	OMIM:212066
HP:0012638	Abnormal nervous system physiology	51633	OTUD6B	OMIM:617452
HP:0012638	Abnormal nervous system physiology	51633	OTUD6B	ORPHA:505237
HP:0012638	Abnormal nervous system physiology	9526	MPDU1	ORPHA:79323
HP:0012638	Abnormal nervous system physiology	5881	RAC3	OMIM:618577
HP:0012638	Abnormal nervous system physiology	3242	HPD	OMIM:276710
HP:0012638	Abnormal nervous system physiology	3155	HMGCL	ORPHA:20
HP:0012638	Abnormal nervous system physiology	2737	GLI3	ORPHA:36
HP:0012638	Abnormal nervous system physiology	128869	PIGU	OMIM:618590
HP:0012638	Abnormal nervous system physiology	112939	NACC1	ORPHA:500545
HP:0012638	Abnormal nervous system physiology	79709	COLGALT1	OMIM:618360
HP:0012638	Abnormal nervous system physiology	2664	GDI1	OMIM:300849
HP:0012638	Abnormal nervous system physiology	2009	EML1	OMIM:600348
HP:0012638	Abnormal nervous system physiology	80185	TTI2	ORPHA:391307
HP:0012638	Abnormal nervous system physiology	80185	TTI2	OMIM:615541
HP:0012638	Abnormal nervous system physiology	57477	SHROOM4	ORPHA:85288
HP:0012638	Abnormal nervous system physiology	84295	PHF6	OMIM:301900
HP:0012638	Abnormal nervous system physiology	54187	NANS	OMIM:610442
HP:0012638	Abnormal nervous system physiology	89910	UBE3B	OMIM:244450
HP:0012638	Abnormal nervous system physiology	894	CCND2	OMIM:615938
HP:0012638	Abnormal nervous system physiology	10716	TBR1	OMIM:606053
HP:0012638	Abnormal nervous system physiology	51199	NIN	OMIM:614851
HP:0012638	Abnormal nervous system physiology	51199	NIN	ORPHA:319675
HP:0012638	Abnormal nervous system physiology	26005	C2CD3	OMIM:615948
HP:0012638	Abnormal nervous system physiology	53834	FGFRL1	OMIM:194190
HP:0012638	Abnormal nervous system physiology	10841	FTCD	ORPHA:51208
HP:0012638	Abnormal nervous system physiology	79228	THOC6	ORPHA:363444
HP:0012638	Abnormal nervous system physiology	10472	ZBTB18	OMIM:612337
HP:0012638	Abnormal nervous system physiology	54862	CC2D1A	OMIM:608443
HP:0012638	Abnormal nervous system physiology	3187	HNRNPH1	OMIM:620083
HP:0012638	Abnormal nervous system physiology	51621	KLF13	OMIM:612001
HP:0012638	Abnormal nervous system physiology	471	ATIC	ORPHA:250977
HP:0012638	Abnormal nervous system physiology	65062	TMEM237	OMIM:614424
HP:0012638	Abnormal nervous system physiology	3176	HNMT	OMIM:616739
HP:0012638	Abnormal nervous system physiology	6597	SMARCA4	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6659	SOX4	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	8289	ARID1A	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6602	SMARCD1	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6664	SOX11	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	64093	SMOC1	ORPHA:1106
HP:0012638	Abnormal nervous system physiology	83696	TRAPPC9	ORPHA:352530
HP:0012638	Abnormal nervous system physiology	128637	TBC1D20	OMIM:615663
HP:0012638	Abnormal nervous system physiology	128637	TBC1D20	ORPHA:2510
HP:0012638	Abnormal nervous system physiology	55969	RAB5IF	OMIM:616994
HP:0012638	Abnormal nervous system physiology	64857	PLEKHG2	OMIM:616763
HP:0012638	Abnormal nervous system physiology	23630	KCNE5	ORPHA:86818
HP:0012638	Abnormal nervous system physiology	9949	AMMECR1	ORPHA:86818
HP:0012638	Abnormal nervous system physiology	7991	TUSC3	OMIM:611093
HP:0012638	Abnormal nervous system physiology	2806	GOT2	OMIM:618721
HP:0012638	Abnormal nervous system physiology	2036	EPB41L1	OMIM:614257
HP:0012638	Abnormal nervous system physiology	2821	GPI	OMIM:613470
HP:0012638	Abnormal nervous system physiology	23154	NCDN	OMIM:619373
HP:0012638	Abnormal nervous system physiology	84282	RNF135	ORPHA:137634
HP:0012638	Abnormal nervous system physiology	1105	CHD1	OMIM:617682
HP:0012638	Abnormal nervous system physiology	1105	CHD1	ORPHA:529965
HP:0012638	Abnormal nervous system physiology	2584	GALK1	ORPHA:79237
HP:0012638	Abnormal nervous system physiology	8912	CACNA1H	ORPHA:64280
HP:0012638	Abnormal nervous system physiology	8629	JRK	ORPHA:64280
HP:0012638	Abnormal nervous system physiology	54496	PRMT7	OMIM:617157
HP:0012638	Abnormal nervous system physiology	785	CACNB4	OMIM:613855
HP:0012638	Abnormal nervous system physiology	785	CACNB4	OMIM:607682
HP:0012638	Abnormal nervous system physiology	1719	DHFR	OMIM:613839
HP:0012638	Abnormal nervous system physiology	23067	SETD1B	OMIM:619000
HP:0012638	Abnormal nervous system physiology	1027	CDKN1B	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1026	CDKN1A	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1030	CDKN2B	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1031	CDKN2C	ORPHA:652
HP:0012638	Abnormal nervous system physiology	112755	STX1B	ORPHA:36387
HP:0012638	Abnormal nervous system physiology	84059	ADGRV1	ORPHA:36387
HP:0012638	Abnormal nervous system physiology	8813	DPM1	ORPHA:79322
HP:0012638	Abnormal nervous system physiology	6611	SMS	ORPHA:3063
HP:0012638	Abnormal nervous system physiology	23443	SLC35A3	OMIM:615553
HP:0012638	Abnormal nervous system physiology	727676	SNORD118	ORPHA:542310
HP:0012638	Abnormal nervous system physiology	686	BTD	ORPHA:79241
HP:0012638	Abnormal nervous system physiology	25930	PTPN23	OMIM:618890
HP:0012638	Abnormal nervous system physiology	55780	ERMARD	OMIM:615544
HP:0012638	Abnormal nervous system physiology	11277	TREX1	ORPHA:247691
HP:0012638	Abnormal nervous system physiology	57531	HACE1	ORPHA:464282
HP:0012638	Abnormal nervous system physiology	8943	AP3D1	OMIM:617050
HP:0012638	Abnormal nervous system physiology	776	CACNA1D	ORPHA:369929
HP:0012638	Abnormal nervous system physiology	2019	EN1	OMIM:619218
HP:0012638	Abnormal nervous system physiology	56270	WDR45B	OMIM:617977
HP:0012638	Abnormal nervous system physiology	79583	TMEM231	ORPHA:2752
HP:0012638	Abnormal nervous system physiology	197322	ACSF3	ORPHA:289504
HP:0012638	Abnormal nervous system physiology	197322	ACSF3	OMIM:614265
HP:0012638	Abnormal nervous system physiology	55753	OGDHL	OMIM:619701
HP:0012638	Abnormal nervous system physiology	9969	MED13	OMIM:618009
HP:0012638	Abnormal nervous system physiology	25839	COG4	ORPHA:263501
HP:0012638	Abnormal nervous system physiology	5138	PDE2A	ORPHA:31709
HP:0012638	Abnormal nervous system physiology	135	ADORA2A	ORPHA:363549
HP:0012638	Abnormal nervous system physiology	26960	NBEA	OMIM:619157
HP:0012638	Abnormal nervous system physiology	104	ADARB1	OMIM:618862
HP:0012638	Abnormal nervous system physiology	92335	STRADA	ORPHA:500533
HP:0012638	Abnormal nervous system physiology	815	CAMK2A	OMIM:618095
HP:0012638	Abnormal nervous system physiology	6833	ABCC8	OMIM:618857
HP:0012638	Abnormal nervous system physiology	10844	TUBGCP2	OMIM:618737
HP:0012638	Abnormal nervous system physiology	6900	CNTN2	OMIM:615400
HP:0012638	Abnormal nervous system physiology	1476	CSTB	OMIM:254800
HP:0012638	Abnormal nervous system physiology	9990	SLC12A6	OMIM:218000
HP:0012638	Abnormal nervous system physiology	4131	MAP1B	OMIM:618918
HP:0012638	Abnormal nervous system physiology	154881	KCTD7	ORPHA:263516
HP:0012638	Abnormal nervous system physiology	54681	P4HTM	OMIM:618493
HP:0012638	Abnormal nervous system physiology	7355	SLC35A2	ORPHA:356961
HP:0012638	Abnormal nervous system physiology	1203	CLN5	ORPHA:228360
HP:0012638	Abnormal nervous system physiology	57107	PDSS2	ORPHA:255249
HP:0012638	Abnormal nervous system physiology	54872	PIGG	ORPHA:488635
HP:0012638	Abnormal nervous system physiology	54872	PIGG	OMIM:616917
HP:0012638	Abnormal nervous system physiology	1183	CLCN4	ORPHA:485350
HP:0012638	Abnormal nervous system physiology	26047	CNTNAP2	ORPHA:163681
HP:0012638	Abnormal nervous system physiology	283987	HID1	OMIM:619983
HP:0012638	Abnormal nervous system physiology	29968	PSAT1	ORPHA:284417
HP:0012638	Abnormal nervous system physiology	9361	LONP1	ORPHA:79243
HP:0012638	Abnormal nervous system physiology	5160	PDHA1	ORPHA:79243
HP:0012638	Abnormal nervous system physiology	1173	AP2M1	ORPHA:1942
HP:0012638	Abnormal nervous system physiology	6529	SLC6A1	ORPHA:1942
HP:0012638	Abnormal nervous system physiology	1605	DAG1	ORPHA:370997
HP:0012638	Abnormal nervous system physiology	2746	GLUD1	ORPHA:35878
HP:0012638	Abnormal nervous system physiology	23102	TBC1D2B	OMIM:619323
HP:0012638	Abnormal nervous system physiology	3746	KCNC1	OMIM:616187
HP:0012638	Abnormal nervous system physiology	440138	ALG11	OMIM:613661
HP:0012638	Abnormal nervous system physiology	55367	PIDD1	OMIM:619827
HP:0012638	Abnormal nervous system physiology	93627	TBCK	ORPHA:488632
HP:0012638	Abnormal nervous system physiology	501	ALDH7A1	ORPHA:3006
HP:0012638	Abnormal nervous system physiology	11212	PLPBP	ORPHA:3006
HP:0012638	Abnormal nervous system physiology	51604	PIGT	ORPHA:369837
HP:0012638	Abnormal nervous system physiology	11285	B4GALT7	OMIM:130070
HP:0012638	Abnormal nervous system physiology	22800	RRAS2	OMIM:618624
HP:0012638	Abnormal nervous system physiology	10992	SF3B2	OMIM:164210
HP:0012638	Abnormal nervous system physiology	4173	MCM4	OMIM:609981
HP:0012638	Abnormal nervous system physiology	213	ALB	ORPHA:86816
HP:0012638	Abnormal nervous system physiology	51163	DBR1	OMIM:619441
HP:0012638	Abnormal nervous system physiology	5184	PEPD	OMIM:170100
HP:0012638	Abnormal nervous system physiology	9382	COG1	OMIM:611209
HP:0012638	Abnormal nervous system physiology	9382	COG1	ORPHA:263508
HP:0012638	Abnormal nervous system physiology	338657	CENATAC	OMIM:620153
HP:0012638	Abnormal nervous system physiology	23554	TSPAN12	ORPHA:891
HP:0012638	Abnormal nervous system physiology	8322	FZD4	ORPHA:891
HP:0012638	Abnormal nervous system physiology	5257	PHKB	ORPHA:79240
HP:0012638	Abnormal nervous system physiology	256297	PTF1A	OMIM:615935
HP:0012638	Abnormal nervous system physiology	506	ATP5F1B	OMIM:620085
HP:0012638	Abnormal nervous system physiology	56160	NSMCE3	OMIM:617241
HP:0012638	Abnormal nervous system physiology	58499	ZNF462	OMIM:618619
HP:0012638	Abnormal nervous system physiology	27034	ACAD8	ORPHA:79159
HP:0012638	Abnormal nervous system physiology	10265	IRX5	OMIM:611174
HP:0012638	Abnormal nervous system physiology	7174	TPP2	ORPHA:444463
HP:0012638	Abnormal nervous system physiology	4330	MN1	OMIM:618774
HP:0012638	Abnormal nervous system physiology	4212	MEIS2	OMIM:600987
HP:0012638	Abnormal nervous system physiology	497661	C18orf32	OMIM:619985
HP:0012638	Abnormal nervous system physiology	8550	MAPKAPK5	OMIM:619869
HP:0012638	Abnormal nervous system physiology	2752	GLUL	OMIM:610015
HP:0012638	Abnormal nervous system physiology	79753	SNIP1	OMIM:614501
HP:0012638	Abnormal nervous system physiology	3912	LAMB1	ORPHA:352682
HP:0012638	Abnormal nervous system physiology	3912	LAMB1	OMIM:615191
HP:0012638	Abnormal nervous system physiology	56052	ALG1	ORPHA:79327
HP:0012638	Abnormal nervous system physiology	5626	PROP1	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	89884	LHX4	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	3170	FOXA2	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	5449	POU1F1	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	10436	EMG1	ORPHA:1270
HP:0012638	Abnormal nervous system physiology	79989	IFT56	OMIM:619534
HP:0012638	Abnormal nervous system physiology	79087	ALG12	ORPHA:79324
HP:0012638	Abnormal nervous system physiology	55770	EXOC2	OMIM:619306
HP:0012638	Abnormal nervous system physiology	55610	VPS50	OMIM:619685
HP:0012638	Abnormal nervous system physiology	8882	ZPR1	OMIM:619321
HP:0012638	Abnormal nervous system physiology	79068	FTO	OMIM:612938
HP:0012638	Abnormal nervous system physiology	63925	ZNF335	OMIM:615095
HP:0012638	Abnormal nervous system physiology	2530	FUT8	OMIM:618005
HP:0012638	Abnormal nervous system physiology	91647	ATPAF2	OMIM:604273
HP:0012638	Abnormal nervous system physiology	57572	DOCK6	OMIM:614219
HP:0012638	Abnormal nervous system physiology	5167	ENPP1	ORPHA:51608
HP:0012638	Abnormal nervous system physiology	368	ABCC6	ORPHA:51608
HP:0012638	Abnormal nervous system physiology	5702	PSMC3	OMIM:619354
HP:0012638	Abnormal nervous system physiology	5331	PLCB3	OMIM:618961
HP:0012638	Abnormal nervous system physiology	5557	PRIM1	OMIM:620005
HP:0012638	Abnormal nervous system physiology	1778	DYNC1H1	OMIM:158600
HP:0012638	Abnormal nervous system physiology	84196	USP48	ORPHA:96253
HP:0012638	Abnormal nervous system physiology	2908	NR3C1	ORPHA:96253
HP:0012638	Abnormal nervous system physiology	3612	IMPA1	OMIM:617323
HP:0012638	Abnormal nervous system physiology	2328	FMO3	ORPHA:468726
HP:0012638	Abnormal nervous system physiology	9993	DGCR2	OMIM:192430
HP:0012638	Abnormal nervous system physiology	8220	ESS2	OMIM:192430
HP:0012638	Abnormal nervous system physiology	8214	DGCR6	OMIM:192430
HP:0012638	Abnormal nervous system physiology	54487	DGCR8	OMIM:192430
HP:0012638	Abnormal nervous system physiology	114327	EFHC1	OMIM:254770
HP:0012638	Abnormal nervous system physiology	7030	TFE3	OMIM:301066
HP:0012638	Abnormal nervous system physiology	6548	SLC9A1	OMIM:616291
HP:0012638	Abnormal nervous system physiology	81846	SBF2	ORPHA:99956
HP:0012638	Abnormal nervous system physiology	3508	IGHMBP2	OMIM:616155
HP:0012638	Abnormal nervous system physiology	1822	ATN1	ORPHA:101
HP:0012638	Abnormal nervous system physiology	1678	TIMM8A	ORPHA:52368
HP:0012638	Abnormal nervous system physiology	80347	COASY	ORPHA:397725
HP:0012638	Abnormal nervous system physiology	80347	COASY	OMIM:615643
HP:0012638	Abnormal nervous system physiology	9757	KMT2B	ORPHA:589618
HP:0012638	Abnormal nervous system physiology	9757	KMT2B	OMIM:617284
HP:0012638	Abnormal nervous system physiology	64601	VPS16	OMIM:619291
HP:0012638	Abnormal nervous system physiology	80025	PANK2	ORPHA:216873
HP:0012638	Abnormal nervous system physiology	63982	ANO3	OMIM:615034
HP:0012638	Abnormal nervous system physiology	63982	ANO3	ORPHA:420485
HP:0012638	Abnormal nervous system physiology	83636	C19orf12	OMIM:614298
HP:0012638	Abnormal nervous system physiology	55145	THAP1	OMIM:602629
HP:0012638	Abnormal nervous system physiology	1293	COL6A3	OMIM:616411
HP:0012638	Abnormal nervous system physiology	1293	COL6A3	ORPHA:464440
HP:0012638	Abnormal nervous system physiology	2512	FTL	OMIM:606159
HP:0012638	Abnormal nervous system physiology	2774	GNAL	OMIM:615073
HP:0012638	Abnormal nervous system physiology	2774	GNAL	ORPHA:329466
HP:0012638	Abnormal nervous system physiology	8575	PRKRA	OMIM:612067
HP:0012638	Abnormal nervous system physiology	10382	TUBB4A	ORPHA:98805
HP:0012638	Abnormal nervous system physiology	55823	VPS11	OMIM:619637
HP:0012638	Abnormal nervous system physiology	2778	GNAS	ORPHA:94089
HP:0012638	Abnormal nervous system physiology	2778	GNAS	ORPHA:79443
HP:0012638	Abnormal nervous system physiology	2778	GNAS	ORPHA:79444
HP:0012638	Abnormal nervous system physiology	8675	STX16	ORPHA:94089
HP:0012638	Abnormal nervous system physiology	518	ATP5MC3	OMIM:619681
HP:0012638	Abnormal nervous system physiology	1593	CYP27A1	ORPHA:909
HP:0012638	Abnormal nervous system physiology	51324	SPG21	ORPHA:101001
HP:0012638	Abnormal nervous system physiology	1813	DRD2	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	8910	SGCE	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	79734	KCTD17	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	1861	TOR1A	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	875	CBS	OMIM:236200
HP:0012638	Abnormal nervous system physiology	7504	XK	OMIM:300842
HP:0012638	Abnormal nervous system physiology	1759	DNM1	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	2562	GABRB3	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	5602	MAPK10	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	773	CACNA1A	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	6323	SCN1A	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	23316	CUX2	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	1106	CHD2	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	6095	RORA	OMIM:618060
HP:0012638	Abnormal nervous system physiology	51322	WAC	ORPHA:466950
HP:0012638	Abnormal nervous system physiology	54332	GDAP1	ORPHA:99948
HP:0012638	Abnormal nervous system physiology	3098	HK1	ORPHA:99953
HP:0012638	Abnormal nervous system physiology	5428	POLG	ORPHA:94125
HP:0012638	Abnormal nervous system physiology	1311	COMP	OMIM:619161
HP:0012638	Abnormal nervous system physiology	567	B2M	ORPHA:314652
HP:0012638	Abnormal nervous system physiology	411	ARSB	OMIM:253200
HP:0012638	Abnormal nervous system physiology	57167	SALL4	ORPHA:233
HP:0012638	Abnormal nervous system physiology	9935	MAFB	ORPHA:233
HP:0012638	Abnormal nervous system physiology	1123	CHN1	ORPHA:233
HP:0012638	Abnormal nervous system physiology	59341	TRPV4	OMIM:606071
HP:0012638	Abnormal nervous system physiology	54658	UGT1A1	ORPHA:79234
HP:0012638	Abnormal nervous system physiology	55901	THSD1	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	7049	TGFBR3	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	83854	ANGPTL6	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	2022	ENG	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	5155	PDGFB	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	84231	TRAF7	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	207	AKT1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	7015	TERT	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	51684	SUFU	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	6605	SMARCE1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	8022	LHX3	ORPHA:231720
HP:0012638	Abnormal nervous system physiology	57511	COG6	ORPHA:363523
HP:0012638	Abnormal nervous system physiology	10617	STAMBP	OMIM:614261
HP:0012638	Abnormal nervous system physiology	7280	TUBB2A	OMIM:615763
HP:0012638	Abnormal nervous system physiology	490	ATP2B1	OMIM:619910
HP:0012638	Abnormal nervous system physiology	253959	RALGAPA1	OMIM:618797
HP:0012638	Abnormal nervous system physiology	2801	GOLGA2	OMIM:620240
HP:0012638	Abnormal nervous system physiology	57647	DHX37	OMIM:618731
HP:0012638	Abnormal nervous system physiology	3949	LDLR	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	255738	PCSK9	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	26119	LDLRAP1	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	64240	ABCG5	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	64241	ABCG8	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	4713	NDUFB7	OMIM:620135
HP:0012638	Abnormal nervous system physiology	84548	TMEM185A	ORPHA:100974
HP:0012638	Abnormal nervous system physiology	7381	UQCRB	OMIM:615158
HP:0012638	Abnormal nervous system physiology	23498	HAAO	OMIM:617660
HP:0012638	Abnormal nervous system physiology	667	DST	OMIM:614653
HP:0012638	Abnormal nervous system physiology	26053	AUTS2	OMIM:615834
HP:0012638	Abnormal nervous system physiology	26053	AUTS2	ORPHA:352490
HP:0012638	Abnormal nervous system physiology	10664	CTCF	ORPHA:363611
HP:0012638	Abnormal nervous system physiology	55690	PACS1	ORPHA:329224
HP:0012638	Abnormal nervous system physiology	11011	TLK2	OMIM:618050
HP:0012638	Abnormal nervous system physiology	1457	CSNK2A1	OMIM:617062
HP:0012638	Abnormal nervous system physiology	10524	KAT5	OMIM:619103
HP:0012638	Abnormal nervous system physiology	51319	RSRC1	OMIM:618402
HP:0012638	Abnormal nervous system physiology	5977	DPF2	OMIM:618027
HP:0012638	Abnormal nervous system physiology	1351	COX8A	OMIM:619059
HP:0012638	Abnormal nervous system physiology	55275	VPS53	OMIM:615851
HP:0012638	Abnormal nervous system physiology	23031	MAST3	OMIM:620115
HP:0012638	Abnormal nervous system physiology	23384	SPECC1L	OMIM:145420
HP:0012638	Abnormal nervous system physiology	84133	ZNRF3	ORPHA:1501
HP:0012638	Abnormal nervous system physiology	1303	COL12A1	ORPHA:536516
HP:0012638	Abnormal nervous system physiology	7809	BSND	ORPHA:89938
HP:0012638	Abnormal nervous system physiology	1188	CLCNKB	ORPHA:89938
HP:0012638	Abnormal nervous system physiology	1187	CLCNKA	ORPHA:89938
HP:0012638	Abnormal nervous system physiology	54344	DPM3	OMIM:618992
HP:0012638	Abnormal nervous system physiology	5251	PHEX	ORPHA:89936
HP:0012638	Abnormal nervous system physiology	57498	KIDINS220	OMIM:617296
HP:0012638	Abnormal nervous system physiology	55628	ZNF407	OMIM:619557
HP:0012638	Abnormal nervous system physiology	22845	DOLK	ORPHA:91131
HP:0012638	Abnormal nervous system physiology	2137	EXTL3	ORPHA:508533
HP:0012638	Abnormal nervous system physiology	1281	COL3A1	OMIM:618343
HP:0012638	Abnormal nervous system physiology	339983	NAT8L	OMIM:614063
HP:0012638	Abnormal nervous system physiology	8452	CUL3	OMIM:619239
HP:0012638	Abnormal nervous system physiology	4191	MDH2	OMIM:617339
HP:0012638	Abnormal nervous system physiology	22859	ADGRL1	OMIM:620065
HP:0012638	Abnormal nervous system physiology	111	ADCY5	OMIM:606703
HP:0012638	Abnormal nervous system physiology	111	ADCY5	OMIM:619651
HP:0012638	Abnormal nervous system physiology	80232	WDR26	ORPHA:513456
HP:0012638	Abnormal nervous system physiology	3020	H3-3A	OMIM:619720
HP:0012638	Abnormal nervous system physiology	2548	GAA	ORPHA:308552
HP:0012638	Abnormal nervous system physiology	7358	UGDH	OMIM:618792
HP:0012638	Abnormal nervous system physiology	91875	TTC5	OMIM:619244
HP:0012638	Abnormal nervous system physiology	2904	GRIN2B	OMIM:616139
HP:0012638	Abnormal nervous system physiology	80055	PGAP1	OMIM:615802
HP:0012638	Abnormal nervous system physiology	5010	CLDN11	OMIM:619328
HP:0012638	Abnormal nervous system physiology	28960	DCPS	OMIM:616459
HP:0012638	Abnormal nervous system physiology	64221	ROBO3	OMIM:607313
HP:0012638	Abnormal nervous system physiology	84679	SLC9A7	OMIM:301024
HP:0012638	Abnormal nervous system physiology	23387	SIK3	OMIM:618162
HP:0012638	Abnormal nervous system physiology	4677	NARS1	OMIM:619091
HP:0012638	Abnormal nervous system physiology	4677	NARS1	OMIM:619092
HP:0012638	Abnormal nervous system physiology	57020	VPS35L	OMIM:619135
HP:0012638	Abnormal nervous system physiology	129685	TAF8	OMIM:619972
HP:0012638	Abnormal nervous system physiology	2590	GALNT2	OMIM:618885
HP:0012638	Abnormal nervous system physiology	6571	SLC18A2	OMIM:618049
HP:0012638	Abnormal nervous system physiology	738	VPS51	OMIM:618606
HP:0012638	Abnormal nervous system physiology	2770	GNAI1	OMIM:619854
HP:0012638	Abnormal nervous system physiology	5430	POLR2A	OMIM:618603
HP:0012638	Abnormal nervous system physiology	1487	CTBP1	OMIM:617915
HP:0012638	Abnormal nervous system physiology	51608	GET4	OMIM:620200
HP:0012638	Abnormal nervous system physiology	54903	MKS1	OMIM:249000
HP:0012638	Abnormal nervous system physiology	8621	CDK13	OMIM:617360
HP:0012638	Abnormal nervous system physiology	8665	EIF3F	OMIM:618295
HP:0012638	Abnormal nervous system physiology	57231	SNX14	OMIM:616354
HP:0012638	Abnormal nervous system physiology	5833	PCYT2	OMIM:618770
HP:0012638	Abnormal nervous system physiology	1140	CHRNB1	OMIM:616313
HP:0012638	Abnormal nervous system physiology	4208	MEF2C	OMIM:613443
HP:0012638	Abnormal nervous system physiology	284439	SLC25A42	OMIM:618416
HP:0012638	Abnormal nervous system physiology	27245	AHDC1	OMIM:615829
HP:0012638	Abnormal nervous system physiology	535	ATP6V0A1	OMIM:619971
HP:0012638	Abnormal nervous system physiology	378884	NHLRC1	ORPHA:501
HP:0012638	Abnormal nervous system physiology	7957	EPM2A	ORPHA:501
HP:0012638	Abnormal nervous system physiology	2990	GUSB	OMIM:253220
HP:0012638	Abnormal nervous system physiology	11342	RNF13	ORPHA:544503
HP:0012638	Abnormal nervous system physiology	10815	CPLX1	ORPHA:352582
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	2475	MTOR	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	10000	AKT3	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	8131	NPRL3	ORPHA:98820
HP:0012638	Abnormal nervous system physiology	10641	NPRL2	ORPHA:98820
HP:0012638	Abnormal nervous system physiology	6792	CDKL5	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	22854	NTNG1	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	8398	PLA2G6	OMIM:612953
HP:0012638	Abnormal nervous system physiology	9829	DNAJC6	OMIM:615528
HP:0012638	Abnormal nervous system physiology	6445	SGCG	ORPHA:353
HP:0012638	Abnormal nervous system physiology	6442	SGCA	ORPHA:62
HP:0012638	Abnormal nervous system physiology	55181	SMG8	OMIM:619268
HP:0012638	Abnormal nervous system physiology	6532	SLC6A4	OMIM:164230
HP:0012638	Abnormal nervous system physiology	6999	TDO2	OMIM:600627
HP:0012638	Abnormal nervous system physiology	6608	SMO	OMIM:241800
HP:0012638	Abnormal nervous system physiology	123263	MTFMT	OMIM:614947
HP:0012638	Abnormal nervous system physiology	4311	MME	OMIM:617018
HP:0012638	Abnormal nervous system physiology	5371	PML	ORPHA:520
HP:0012638	Abnormal nervous system physiology	5914	RARA	ORPHA:520
HP:0012638	Abnormal nervous system physiology	359948	IRF2BP2	ORPHA:520
HP:0012638	Abnormal nervous system physiology	81608	FIP1L1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	4869	NPM1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	64859	NABP1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	6777	STAT5B	ORPHA:520
HP:0012638	Abnormal nervous system physiology	4926	NUMA1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	7704	ZBTB16	ORPHA:520
HP:0012638	Abnormal nervous system physiology	79718	TBL1XR1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	23592	LEMD3	ORPHA:166119
HP:0012638	Abnormal nervous system physiology	50833	TAS2R16	OMIM:103780
HP:0012638	Abnormal nervous system physiology	3356	HTR2A	OMIM:103780
HP:0012638	Abnormal nervous system physiology	125	ADH1B	OMIM:103780
HP:0012638	Abnormal nervous system physiology	55768	NGLY1	OMIM:615273
HP:0012638	Abnormal nervous system physiology	1407	CRY1	OMIM:614163
HP:0012638	Abnormal nervous system physiology	3708	ITPR1	OMIM:117360
HP:0012638	Abnormal nervous system physiology	3781	KCNN2	OMIM:619724
HP:0012638	Abnormal nervous system physiology	65217	PCDH15	OMIM:602083
HP:0012638	Abnormal nervous system physiology	10159	ATP6AP2	OMIM:300423
HP:0012638	Abnormal nervous system physiology	55343	SLC35C1	ORPHA:99843
HP:0012638	Abnormal nervous system physiology	4137	MAPT	ORPHA:240094
HP:0012638	Abnormal nervous system physiology	4929	NR4A2	OMIM:619911
HP:0012638	Abnormal nervous system physiology	487	ATP2A1	OMIM:601003
HP:0012638	Abnormal nervous system physiology	1213	CLTC	OMIM:617854
HP:0012638	Abnormal nervous system physiology	4854	NOTCH3	ORPHA:136
HP:0012638	Abnormal nervous system physiology	3064	HTT	ORPHA:399
HP:0012638	Abnormal nervous system physiology	6515	SLC2A3	ORPHA:399
HP:0012638	Abnormal nervous system physiology	1760	DMPK	ORPHA:589821
HP:0012638	Abnormal nervous system physiology	7305	TYROBP	OMIM:221770
HP:0012638	Abnormal nervous system physiology	2799	GNS	OMIM:252940
HP:0012638	Abnormal nervous system physiology	10743	RAI1	OMIM:182290
HP:0012638	Abnormal nervous system physiology	8864	PER2	OMIM:604348
HP:0012638	Abnormal nervous system physiology	1453	CSNK1D	OMIM:615224
HP:0012638	Abnormal nervous system physiology	8914	TIMELESS	OMIM:620015
HP:0012638	Abnormal nervous system physiology	8863	PER3	OMIM:616882
HP:0012638	Abnormal nervous system physiology	57680	CHD8	OMIM:615032
HP:0012638	Abnormal nervous system physiology	1576	CYP3A4	OMIM:619073
HP:0012638	Abnormal nervous system physiology	79879	CCDC134	OMIM:619795
HP:0012638	Abnormal nervous system physiology	4604	MYBPC1	OMIM:618524
HP:0012638	Abnormal nervous system physiology	2077	ERF	OMIM:600775
HP:0012638	Abnormal nervous system physiology	5741	PTH	OMIM:146200
HP:0012638	Abnormal nervous system physiology	51083	GAL	OMIM:616461
HP:0012638	Abnormal nervous system physiology	57128	LYRM4	OMIM:615595
HP:0012638	Abnormal nervous system physiology	1020	CDK5	OMIM:616342
HP:0012638	Abnormal nervous system physiology	55180	LINS1	OMIM:614340
HP:0012638	Abnormal nervous system physiology	10056	FARSB	OMIM:613658
HP:0012638	Abnormal nervous system physiology	7317	UBA1	OMIM:301830
HP:0012638	Abnormal nervous system physiology	23327	NEDD4L	OMIM:617201
HP:0012638	Abnormal nervous system physiology	22907	DHX30	OMIM:617804
HP:0012638	Abnormal nervous system physiology	4632	MYL1	OMIM:618414
HP:0012638	Abnormal nervous system physiology	871	SERPINH1	OMIM:613848
HP:0012638	Abnormal nervous system physiology	4702	NDUFA8	OMIM:619272
HP:0012638	Abnormal nervous system physiology	90522	YIF1B	OMIM:619125
HP:0012638	Abnormal nervous system physiology	8604	SLC25A12	OMIM:612949
HP:0012638	Abnormal nervous system physiology	27327	TNRC6A	OMIM:618074
HP:0012638	Abnormal nervous system physiology	153	ADRB1	OMIM:618591
HP:0012638	Abnormal nervous system physiology	121512	FGD4	OMIM:609311
HP:0012638	Abnormal nervous system physiology	10079	ATP9A	OMIM:620242
HP:0012638	Abnormal nervous system physiology	55617	TASP1	OMIM:618950
HP:0012638	Abnormal nervous system physiology	3425	IDUA	ORPHA:93474
HP:0012638	Abnormal nervous system physiology	3425	IDUA	ORPHA:93473
HP:0012638	Abnormal nervous system physiology	3425	IDUA	ORPHA:93476
HP:0012638	Abnormal nervous system physiology	54507	ADAMTSL4	ORPHA:1885
HP:0012638	Abnormal nervous system physiology	4774	NFIA	OMIM:613735
HP:0012638	Abnormal nervous system physiology	1131	CHRM3	ORPHA:2970
HP:0012638	Abnormal nervous system physiology	6023	RMRP	ORPHA:175
HP:0012638	Abnormal nervous system physiology	28958	COA3	OMIM:619058
HP:0012638	Abnormal nervous system physiology	79868	ALG13	ORPHA:324422
HP:0012638	Abnormal nervous system physiology	3423	IDS	ORPHA:217085
HP:0012638	Abnormal nervous system physiology	3423	IDS	ORPHA:217093
HP:0012638	Abnormal nervous system physiology	8200	GDF5	ORPHA:968
HP:0012638	Abnormal nervous system physiology	23461	ABCA5	ORPHA:2026
HP:0012638	Abnormal nervous system physiology	54840	APTX	OMIM:208920
HP:0012638	Abnormal nervous system physiology	9056	SLC7A7	ORPHA:470
HP:0012638	Abnormal nervous system physiology	113612	CYP2U1	OMIM:615030
HP:0012638	Abnormal nervous system physiology	113612	CYP2U1	ORPHA:320411
HP:0012638	Abnormal nervous system physiology	7157	TP53	ORPHA:2807
HP:0012638	Abnormal nervous system physiology	5566	PRKACA	ORPHA:189439
HP:0012638	Abnormal nervous system physiology	5573	PRKAR1A	ORPHA:189439
HP:0012638	Abnormal nervous system physiology	50940	PDE11A	ORPHA:189439
HP:0012638	Abnormal nervous system physiology	148789	B3GALNT2	ORPHA:588
HP:0012638	Abnormal nervous system physiology	8517	IKBKG	ORPHA:464
HP:0012638	Abnormal nervous system physiology	79798	ARMC5	ORPHA:189427
HP:0012638	Abnormal nervous system physiology	1356	CP	ORPHA:48818
HP:0012638	Abnormal nervous system physiology	9652	SKIC3	OMIM:222470
HP:0012638	Abnormal nervous system physiology	545	ATR	ORPHA:808
HP:0012638	Abnormal nervous system physiology	1062	CENPE	ORPHA:808
HP:0012638	Abnormal nervous system physiology	5116	PCNT	ORPHA:808
HP:0012638	Abnormal nervous system physiology	5932	RBBP8	ORPHA:808
HP:0012638	Abnormal nervous system physiology	79902	NUP85	ORPHA:808
HP:0012638	Abnormal nervous system physiology	84126	ATRIP	ORPHA:808
HP:0012638	Abnormal nervous system physiology	10293	TRAIP	ORPHA:808
HP:0012638	Abnormal nervous system physiology	10733	PLK4	ORPHA:808
HP:0012638	Abnormal nervous system physiology	9573	GDF3	ORPHA:2345
HP:0012638	Abnormal nervous system physiology	392255	GDF6	ORPHA:2345
HP:0012638	Abnormal nervous system physiology	4222	MEOX1	ORPHA:2345
HP:0012638	Abnormal nervous system physiology	129880	BBS5	OMIM:615983
HP:0012638	Abnormal nervous system physiology	166379	BBS12	OMIM:615989
HP:0012638	Abnormal nervous system physiology	2245	FGD1	ORPHA:915
HP:0012638	Abnormal nervous system physiology	3075	CFH	OMIM:235400
HP:0012638	Abnormal nervous system physiology	3078	CFHR1	OMIM:235400
HP:0012638	Abnormal nervous system physiology	10878	CFHR3	OMIM:235400
HP:0012638	Abnormal nervous system physiology	84705	GTPBP3	ORPHA:444013
HP:0012638	Abnormal nervous system physiology	7507	XPA	ORPHA:910
HP:0012638	Abnormal nervous system physiology	7508	XPC	ORPHA:910
HP:0012638	Abnormal nervous system physiology	1643	DDB2	ORPHA:910
HP:0012638	Abnormal nervous system physiology	2073	ERCC5	ORPHA:910
HP:0012638	Abnormal nervous system physiology	4549	MT-RNR1	ORPHA:551
HP:0012638	Abnormal nervous system physiology	4571	MT-TP	ORPHA:551
HP:0012638	Abnormal nervous system physiology	10806	SDCCAG8	OMIM:615993
HP:0012638	Abnormal nervous system physiology	10102	TSFM	OMIM:610505
HP:0012638	Abnormal nervous system physiology	1908	EDN3	ORPHA:661
HP:0012638	Abnormal nervous system physiology	2668	GDNF	ORPHA:661
HP:0012638	Abnormal nervous system physiology	627	BDNF	ORPHA:661
HP:0012638	Abnormal nervous system physiology	8929	PHOX2B	ORPHA:661
HP:0012638	Abnormal nervous system physiology	11235	PDCD10	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	83605	CCM2	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	889	KRIT1	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	54453	RIN2	ORPHA:217335
HP:0012638	Abnormal nervous system physiology	2542	SLC37A4	ORPHA:79259
HP:0012638	Abnormal nervous system physiology	147409	DSG4	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3892	KRT86	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3889	KRT83	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3887	KRT81	ORPHA:573
HP:0012638	Abnormal nervous system physiology	2717	GLA	ORPHA:324
HP:0012638	Abnormal nervous system physiology	10483	SEC23B	ORPHA:201
HP:0012638	Abnormal nervous system physiology	205717	USF3	ORPHA:201
HP:0012638	Abnormal nervous system physiology	100144748	KLLN	ORPHA:201
HP:0012638	Abnormal nervous system physiology	5611	DNAJC3	OMIM:616192
HP:0012638	Abnormal nervous system physiology	23395	LARS2	OMIM:615300
HP:0012638	Abnormal nervous system physiology	79827	CLMP	ORPHA:2301
HP:0012638	Abnormal nervous system physiology	2316	FLNA	ORPHA:2301
HP:0012638	Abnormal nervous system physiology	2239	GPC4	ORPHA:2662
HP:0012638	Abnormal nervous system physiology	151516	ASPRV1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	242	ALOX12B	ORPHA:313
HP:0012638	Abnormal nervous system physiology	126410	CYP4F22	ORPHA:313
HP:0012638	Abnormal nervous system physiology	6820	SULT2B1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	643418	LIPN	ORPHA:313
HP:0012638	Abnormal nervous system physiology	59344	ALOXE3	ORPHA:313
HP:0012638	Abnormal nervous system physiology	348938	NIPAL4	ORPHA:313
HP:0012638	Abnormal nervous system physiology	121214	SDR9C7	ORPHA:313
HP:0012638	Abnormal nervous system physiology	7051	TGM1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	1756	DMD	ORPHA:98896
HP:0012638	Abnormal nervous system physiology	8425	LTBP4	ORPHA:98896
HP:0012638	Abnormal nervous system physiology	64840	PORCN	ORPHA:2092
HP:0012638	Abnormal nervous system physiology	9213	XPR1	OMIM:616413
HP:0012638	Abnormal nervous system physiology	10137	RBM12	OMIM:617629
HP:0012638	Abnormal nervous system physiology	199221	DZIP1L	ORPHA:731
HP:0012638	Abnormal nervous system physiology	5314	PKHD1	ORPHA:731
HP:0012638	Abnormal nervous system physiology	2767	GNA11	ORPHA:1556
HP:0012638	Abnormal nervous system physiology	151188	ARL6IP6	ORPHA:1556
HP:0012638	Abnormal nervous system physiology	3920	LAMP2	OMIM:300257
HP:0012638	Abnormal nervous system physiology	7518	XRCC4	OMIM:616541
HP:0012638	Abnormal nervous system physiology	4621	MYH3	ORPHA:2990
HP:0012638	Abnormal nervous system physiology	1146	CHRNG	ORPHA:2990
HP:0012638	Abnormal nervous system physiology	23529	CLCF1	ORPHA:1545
HP:0012638	Abnormal nervous system physiology	284217	LAMA1	ORPHA:370022
HP:0012638	Abnormal nervous system physiology	51002	TPRKB	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	55644	OSGEP	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	57122	NUP107	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	55746	NUP133	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	112858	TP53RK	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	8270	LAGE3	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	161742	SPRED1	ORPHA:137605
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:98794
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:98795
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:411511
HP:0012638	Abnormal nervous system physiology	4948	OCA2	ORPHA:98794
HP:0012638	Abnormal nervous system physiology	2898	GRIK2	OMIM:619580
HP:0012638	Abnormal nervous system physiology	56992	KIF15	ORPHA:261323
HP:0012638	Abnormal nervous system physiology	57688	ZSWIM6	OMIM:617865
HP:0012638	Abnormal nervous system physiology	2290	FOXG1	OMIM:613454
HP:0012638	Abnormal nervous system physiology	673	BRAF	OMIM:115150
HP:0012638	Abnormal nervous system physiology	85358	SHANK3	OMIM:606232
HP:0012638	Abnormal nervous system physiology	57526	PCDH19	ORPHA:101039
HP:0012638	Abnormal nervous system physiology	57526	PCDH19	ORPHA:33069
HP:0012638	Abnormal nervous system physiology	7874	USP7	ORPHA:500055
HP:0012638	Abnormal nervous system physiology	8367	H4C5	OMIM:619950
HP:0012638	Abnormal nervous system physiology	139411	PTCHD1	OMIM:300830
HP:0012638	Abnormal nervous system physiology	22866	CNKSR2	OMIM:301008
HP:0012638	Abnormal nervous system physiology	22866	CNKSR2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	OMIM:180849
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	ORPHA:353281
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	ORPHA:353277
HP:0012638	Abnormal nervous system physiology	2033	EP300	OMIM:180849
HP:0012638	Abnormal nervous system physiology	2033	EP300	ORPHA:353284
HP:0012638	Abnormal nervous system physiology	51126	NAA20	OMIM:619717
HP:0012638	Abnormal nervous system physiology	6335	SCN9A	ORPHA:33069
HP:0012638	Abnormal nervous system physiology	2554	GABRA1	ORPHA:33069
HP:0012638	Abnormal nervous system physiology	6324	SCN1B	ORPHA:33069
HP:0012638	Abnormal nervous system physiology	2566	GABRG2	ORPHA:33069
HP:0012638	Abnormal nervous system physiology	2566	GABRG2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	81839	VANGL1	ORPHA:3027
HP:0012638	Abnormal nervous system physiology	10093	ARPC4	OMIM:620141
HP:0012638	Abnormal nervous system physiology	2731	GLDC	OMIM:605899
HP:0012638	Abnormal nervous system physiology	275	AMT	OMIM:605899
HP:0012638	Abnormal nervous system physiology	79783	SUGCT	ORPHA:35706
HP:0012638	Abnormal nervous system physiology	2334	AFF2	ORPHA:100973
HP:0012638	Abnormal nervous system physiology	2334	AFF2	OMIM:309548
HP:0012638	Abnormal nervous system physiology	4841	NONO	OMIM:300967
HP:0012638	Abnormal nervous system physiology	113179	ADAT3	ORPHA:363528
HP:0012638	Abnormal nervous system physiology	23291	FBXW11	OMIM:618914
HP:0012638	Abnormal nervous system physiology	3097	HIVEP2	OMIM:616977
HP:0012638	Abnormal nervous system physiology	10847	SRCAP	ORPHA:2044
HP:0012638	Abnormal nervous system physiology	57082	KNL1	OMIM:604321
HP:0012638	Abnormal nervous system physiology	284403	WDR62	OMIM:604317
HP:0012638	Abnormal nervous system physiology	4128	MAOA	OMIM:300615
HP:0012638	Abnormal nervous system physiology	63035	BCORL1	OMIM:301029
HP:0012638	Abnormal nervous system physiology	4781	NFIB	OMIM:618286
HP:0012638	Abnormal nervous system physiology	55023	PHIP	OMIM:617991
HP:0012638	Abnormal nervous system physiology	55023	PHIP	ORPHA:589905
HP:0012638	Abnormal nervous system physiology	3458	IFNG	ORPHA:805
HP:0012638	Abnormal nervous system physiology	7248	TSC1	ORPHA:805
HP:0012638	Abnormal nervous system physiology	7249	TSC2	ORPHA:805
HP:0012638	Abnormal nervous system physiology	284058	KANSL1	OMIM:610443
HP:0012638	Abnormal nervous system physiology	1000	CDH2	OMIM:618929
HP:0012638	Abnormal nervous system physiology	5422	POLA1	OMIM:301030
HP:0012638	Abnormal nervous system physiology	11141	IL1RAPL1	OMIM:300143
HP:0012638	Abnormal nervous system physiology	84274	COQ5	OMIM:619028
HP:0012638	Abnormal nervous system physiology	341208	HEPHL1	OMIM:261990
HP:0012638	Abnormal nervous system physiology	22995	CEP152	OMIM:614852
HP:0012638	Abnormal nervous system physiology	54832	VPS13C	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	11315	PARK7	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	5420	PODXL	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	65018	PINK1	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	5071	PRKN	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	3737	KCNA2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	8120	AP3B2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	523	ATP6V1A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	10991	SLC38A3	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51343	FZR1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	1917	EEF1A2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2561	GABRB2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	8831	SYNGAP1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	7532	YWHAG	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	79876	UBA5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2558	GABRA5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	781	CACNA2D1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	116150	NUS1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	10659	CELF2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51741	WWOX	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23334	SZT2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51412	ACTL6B	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	348980	HCN1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2258	FGF13	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	3745	KCNB1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	284111	SLC13A5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	25977	NECAP1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	16	AARS1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2555	GABRA2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	55152	DALRD3	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	26999	CYFIP2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	4915	NTRK2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	25973	PARS2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23097	CDK19	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	64801	ARV1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	79947	DHDDS	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2257	FGF12	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	5530	PPP3CA	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	339453	TMEM240	OMIM:607454
HP:0012638	Abnormal nervous system physiology	199857	ALG14	OMIM:619031
HP:0012638	Abnormal nervous system physiology	7283	TUBG1	ORPHA:261183
HP:0012638	Abnormal nervous system physiology	81614	NIPA2	ORPHA:261183
HP:0012638	Abnormal nervous system physiology	11133	KPTN	OMIM:615637
HP:0012638	Abnormal nervous system physiology	11133	KPTN	ORPHA:397612
HP:0012638	Abnormal nervous system physiology	4897	NRCAM	OMIM:619833
HP:0012638	Abnormal nervous system physiology	55777	MBD5	ORPHA:228402
HP:0012638	Abnormal nervous system physiology	55777	MBD5	OMIM:156200
HP:0012638	Abnormal nervous system physiology	1119	CHKA	OMIM:620023
HP:0012638	Abnormal nervous system physiology	7681	MKRN3	OMIM:176270
HP:0012638	Abnormal nervous system physiology	3653	IPW	OMIM:176270
HP:0012638	Abnormal nervous system physiology	791114	PWRN1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	100033413	SNORD116-1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	8924	HERC2	OMIM:176270
HP:0012638	Abnormal nervous system physiology	145624	PWAR1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	23742	NPAP1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	338433	SNORD115-1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	4784	NFIX	ORPHA:447980
HP:0012638	Abnormal nervous system physiology	2593	GAMT	ORPHA:382
HP:0012638	Abnormal nervous system physiology	5515	PPP2CA	OMIM:618354
HP:0012638	Abnormal nervous system physiology	9578	CDC42BPB	OMIM:619841
HP:0012638	Abnormal nervous system physiology	80816	ASXL3	OMIM:615485
HP:0012638	Abnormal nervous system physiology	57520	HECW2	OMIM:617268
HP:0012638	Abnormal nervous system physiology	4953	ODC1	ORPHA:544488
HP:0012638	Abnormal nervous system physiology	55904	KMT2E	OMIM:618512
HP:0012638	Abnormal nervous system physiology	2314	FLII	ORPHA:819
HP:0012638	Abnormal nervous system physiology	10522	DEAF1	ORPHA:819
HP:0012638	Abnormal nervous system physiology	1717	DHCR7	ORPHA:818
HP:0012638	Abnormal nervous system physiology	5053	PAH	ORPHA:79254
HP:0012638	Abnormal nervous system physiology	7086	TKT	ORPHA:488618
HP:0012638	Abnormal nervous system physiology	7086	TKT	OMIM:617044
HP:0012638	Abnormal nervous system physiology	4952	OCRL	ORPHA:534
HP:0012638	Abnormal nervous system physiology	2891	GRIA2	OMIM:618917
HP:0012638	Abnormal nervous system physiology	6660	SOX5	ORPHA:313892
HP:0012638	Abnormal nervous system physiology	5934	RBL2	OMIM:619690
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	55250	ELP2	OMIM:617270
HP:0012638	Abnormal nervous system physiology	57551	TAOK1	OMIM:619575
HP:0012638	Abnormal nervous system physiology	6601	SMARCC2	OMIM:618362
HP:0012638	Abnormal nervous system physiology	6844	VAMP2	OMIM:618760
HP:0012638	Abnormal nervous system physiology	23325	WASHC4	OMIM:615817
HP:0012638	Abnormal nervous system physiology	546	ATRX	ORPHA:847
HP:0012638	Abnormal nervous system physiology	54880	BCOR	ORPHA:568
HP:0012638	Abnormal nervous system physiology	51185	CRBN	OMIM:607417
HP:0012638	Abnormal nervous system physiology	7319	UBE2A	OMIM:300860
HP:0012638	Abnormal nervous system physiology	164	AP1G1	OMIM:619467
HP:0012638	Abnormal nervous system physiology	3188	HNRNPH2	OMIM:300986
HP:0012638	Abnormal nervous system physiology	3340	NDST1	OMIM:616116
HP:0012638	Abnormal nervous system physiology	3735	KARS1	OMIM:613641
HP:0012638	Abnormal nervous system physiology	6197	RPS6KA3	ORPHA:192
HP:0012638	Abnormal nervous system physiology	26038	CHD5	OMIM:619873
HP:0012638	Abnormal nervous system physiology	1182	CLCN3	OMIM:619512
HP:0012638	Abnormal nervous system physiology	259232	NALCN	ORPHA:371364
HP:0012638	Abnormal nervous system physiology	285175	UNC80	ORPHA:371364
HP:0012638	Abnormal nervous system physiology	8405	SPOP	OMIM:618828
HP:0012638	Abnormal nervous system physiology	8936	WASF1	OMIM:618707
HP:0012638	Abnormal nervous system physiology	6925	TCF4	ORPHA:2896
HP:0012638	Abnormal nervous system physiology	6925	TCF4	OMIM:610954
HP:0012638	Abnormal nervous system physiology	6134	RPL10	ORPHA:435938
HP:0012638	Abnormal nervous system physiology	26137	ZBTB20	OMIM:259050
HP:0012638	Abnormal nervous system physiology	3800	KIF5C	OMIM:615282
HP:0012638	Abnormal nervous system physiology	53335	BCL11A	OMIM:617101
HP:0012638	Abnormal nervous system physiology	55164	SHQ1	OMIM:619922
HP:0012638	Abnormal nervous system physiology	79633	FAT4	ORPHA:314679
HP:0012638	Abnormal nervous system physiology	8642	DCHS1	ORPHA:314679
HP:0012638	Abnormal nervous system physiology	26154	ABCA12	ORPHA:457
HP:0012638	Abnormal nervous system physiology	84628	NTNG2	OMIM:618718
HP:0012638	Abnormal nervous system physiology	10430	TMEM147	OMIM:620075
HP:0012638	Abnormal nervous system physiology	9759	HDAC4	OMIM:600430
HP:0012638	Abnormal nervous system physiology	2706	GJB2	ORPHA:494
HP:0012638	Abnormal nervous system physiology	27086	FOXP1	OMIM:613670
HP:0012638	Abnormal nervous system physiology	25836	NIPBL	OMIM:122470
HP:0012638	Abnormal nervous system physiology	2890	GRIA1	OMIM:619931
HP:0012638	Abnormal nervous system physiology	4693	NDP	ORPHA:649
HP:0012638	Abnormal nervous system physiology	2702	GJA5	OMIM:612474
HP:0012638	Abnormal nervous system physiology	2703	GJA8	OMIM:612474
HP:0012638	Abnormal nervous system physiology	2744	GLS	OMIM:618339
HP:0012638	Abnormal nervous system physiology	8905	AP1S2	OMIM:304340
HP:0012638	Abnormal nervous system physiology	3736	KCNA1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	9091	PIGQ	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	81603	TRIM8	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	8573	CASK	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	51227	PIGP	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	3953	LEPR	OMIM:614963
HP:0012638	Abnormal nervous system physiology	51574	LARP7	ORPHA:319671
HP:0012638	Abnormal nervous system physiology	23590	PDSS1	OMIM:614651
HP:0012638	Abnormal nervous system physiology	5625	PRODH	OMIM:600850
HP:0012638	Abnormal nervous system physiology	5625	PRODH	OMIM:239500
HP:0012638	Abnormal nervous system physiology	5625	PRODH	ORPHA:419
HP:0012638	Abnormal nervous system physiology	79955	PDZD7	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	4647	MYO7A	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	4647	MYO7A	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	25861	WHRN	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	23780	APOL2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	267012	DAOA	OMIM:181500
HP:0012638	Abnormal nervous system physiology	6854	SYN2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	1814	DRD3	OMIM:181500
HP:0012638	Abnormal nervous system physiology	27184	DISC2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	65078	RTN4R	OMIM:181500
HP:0012638	Abnormal nervous system physiology	80832	APOL4	OMIM:181500
HP:0012638	Abnormal nervous system physiology	1116	CHI3L1	OMIM:181500
HP:0012638	Abnormal nervous system physiology	51114	ZDHHC9	ORPHA:776
HP:0012638	Abnormal nervous system physiology	65109	UPF3B	ORPHA:776
HP:0012638	Abnormal nervous system physiology	9968	MED12	ORPHA:776
HP:0012638	Abnormal nervous system physiology	22901	ARSG	ORPHA:231183
HP:0012638	Abnormal nervous system physiology	84131	CEP78	ORPHA:231183
HP:0012638	Abnormal nervous system physiology	24140	FTSJ1	OMIM:309549
HP:0012638	Abnormal nervous system physiology	847	CAT	ORPHA:926
HP:0012638	Abnormal nervous system physiology	10083	USH1C	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	124590	USH1G	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	83715	ESPN	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	10518	CIB2	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	5205	ATP8B1	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	8647	ABCB11	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	5244	ABCB4	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	9971	NR1H4	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	8996	NOL3	OMIM:614937
HP:0012638	Abnormal nervous system physiology	6559	SLC12A3	ORPHA:358
HP:0012638	Abnormal nervous system physiology	50506	DUOX2	ORPHA:226316
HP:0012638	Abnormal nervous system physiology	7849	PAX8	ORPHA:95713
HP:0012638	Abnormal nervous system physiology	7849	PAX8	ORPHA:95712
HP:0012638	Abnormal nervous system physiology	1482	NKX2-5	ORPHA:95713
HP:0012638	Abnormal nervous system physiology	1482	NKX2-5	ORPHA:95712
HP:0012638	Abnormal nervous system physiology	2304	FOXE1	ORPHA:95713
HP:0012638	Abnormal nervous system physiology	7253	TSHR	ORPHA:95713
HP:0012638	Abnormal nervous system physiology	5172	SLC26A4	ORPHA:95713
HP:0012638	Abnormal nervous system physiology	51567	TDP2	OMIM:616949
HP:0012638	Abnormal nervous system physiology	83550	GPR101	ORPHA:963
HP:0012638	Abnormal nervous system physiology	1277	COL1A1	ORPHA:1310
HP:0012638	Abnormal nervous system physiology	25792	CIZ1	ORPHA:420492
HP:0012638	Abnormal nervous system physiology	3704	ITPA	OMIM:616647
HP:0012638	Abnormal nervous system physiology	5238	PGM3	ORPHA:443811
HP:0012638	Abnormal nervous system physiology	343450	KCNT2	OMIM:617771
HP:0012638	Abnormal nervous system physiology	9254	CACNA2D2	OMIM:618501
HP:0012638	Abnormal nervous system physiology	10274	STAG1	ORPHA:502434
HP:0012638	Abnormal nervous system physiology	55163	PNPO	ORPHA:79096
HP:0012638	Abnormal nervous system physiology	63908	NAPB	OMIM:620033
HP:0012638	Abnormal nervous system physiology	3192	HNRNPU	OMIM:617391
HP:0012638	Abnormal nervous system physiology	2560	GABRB1	OMIM:617153
HP:0012638	Abnormal nervous system physiology	79641	ROGDI	OMIM:226750
HP:0012638	Abnormal nervous system physiology	3899	AFF3	OMIM:619297
HP:0012638	Abnormal nervous system physiology	9512	PMPCB	OMIM:617954
HP:0012638	Abnormal nervous system physiology	9378	NRXN1	OMIM:614325
HP:0012638	Abnormal nervous system physiology	54675	CRLS1	OMIM:620167
HP:0012638	Abnormal nervous system physiology	4905	NSF	OMIM:619340
HP:0012638	Abnormal nervous system physiology	56479	KCNQ5	OMIM:617601
HP:0012638	Abnormal nervous system physiology	388962	BOLA3	OMIM:614299
HP:0012638	Abnormal nervous system physiology	3747	KCNC2	OMIM:619913
HP:0012638	Abnormal nervous system physiology	79759	ZNF668	OMIM:620194
HP:0012638	Abnormal nervous system physiology	10236	HNRNPR	OMIM:620073
HP:0012638	Abnormal nervous system physiology	60558	GUF1	OMIM:617065
HP:0012638	Abnormal nervous system physiology	4190	MDH1	OMIM:618959
HP:0012638	Abnormal nervous system physiology	197258	FCSK	OMIM:618324
HP:0012638	Abnormal nervous system physiology	54802	TRIT1	OMIM:617873
HP:0012638	Abnormal nervous system physiology	221692	PHACTR1	OMIM:618298
HP:0012638	Abnormal nervous system physiology	10695	CNPY3	OMIM:617929
HP:0012638	Abnormal nervous system physiology	222663	SCUBE3	OMIM:619184
HP:0012638	Abnormal nervous system physiology	374879	ZNF699	OMIM:619488
HP:0012638	Abnormal nervous system physiology	10755	GIPC1	ORPHA:98897
HP:0012638	Abnormal nervous system physiology	51111	KMT5B	OMIM:617788
HP:0012639	Abnormal nervous system morphology	8294	H4C9	OMIM:619951
HP:0012639	Abnormal nervous system morphology	65082	VPS33A	ORPHA:505248
HP:0012639	Abnormal nervous system morphology	3039	HBA1	ORPHA:163596
HP:0012639	Abnormal nervous system morphology	3040	HBA2	ORPHA:163596
HP:0012639	Abnormal nervous system morphology	63901	FAM111A	OMIM:602361
HP:0012639	Abnormal nervous system morphology	3981	LIG4	ORPHA:235
HP:0012639	Abnormal nervous system morphology	54888	NSUN2	ORPHA:235
HP:0012639	Abnormal nervous system morphology	5034	P4HB	OMIM:112240
HP:0012639	Abnormal nervous system morphology	55621	TRMT1	OMIM:618302
HP:0012639	Abnormal nervous system morphology	2683	B4GALT1	ORPHA:79332
HP:0012639	Abnormal nervous system morphology	2683	B4GALT1	OMIM:607091
HP:0012639	Abnormal nervous system morphology	8643	PTCH2	ORPHA:377
HP:0012639	Abnormal nervous system morphology	54941	RNF125	OMIM:616260
HP:0012639	Abnormal nervous system morphology	55120	FANCL	OMIM:614083
HP:0012639	Abnormal nervous system morphology	55120	FANCL	ORPHA:84
HP:0012639	Abnormal nervous system morphology	3423	IDS	OMIM:309900
HP:0012639	Abnormal nervous system morphology	8905	AP1S2	OMIM:304340
HP:0012639	Abnormal nervous system morphology	8905	AP1S2	ORPHA:85335
HP:0012639	Abnormal nervous system morphology	1801	DPH1	ORPHA:459061
HP:0012639	Abnormal nervous system morphology	51422	PRKAG2	OMIM:261740
HP:0012639	Abnormal nervous system morphology	4967	OGDH	ORPHA:31
HP:0012639	Abnormal nervous system morphology	1193	CLIC2	OMIM:300886
HP:0012639	Abnormal nervous system morphology	9871	SEC24D	OMIM:616294
HP:0012639	Abnormal nervous system morphology	79068	FTO	OMIM:612938
HP:0012639	Abnormal nervous system morphology	56975	FAM20C	OMIM:259775
HP:0012639	Abnormal nervous system morphology	57551	TAOK1	OMIM:619575
HP:0012639	Abnormal nervous system morphology	340665	CYP26C1	ORPHA:398189
HP:0012639	Abnormal nervous system morphology	5831	PYCR1	OMIM:612940
HP:0012639	Abnormal nervous system morphology	10013	HDAC6	OMIM:300863
HP:0012639	Abnormal nervous system morphology	10013	HDAC6	ORPHA:163966
HP:0012639	Abnormal nervous system morphology	54809	SAMD9	OMIM:617053
HP:0012639	Abnormal nervous system morphology	6711	SPTBN1	OMIM:619475
HP:0012639	Abnormal nervous system morphology	4157	MC1R	ORPHA:626
HP:0012639	Abnormal nervous system morphology	55640	FLVCR2	OMIM:225790
HP:0012639	Abnormal nervous system morphology	23387	SIK3	OMIM:618162
HP:0012639	Abnormal nervous system morphology	55898	UNC45A	OMIM:619377
HP:0012639	Abnormal nervous system morphology	6913	TBX15	OMIM:260660
HP:0012639	Abnormal nervous system morphology	7403	KDM6A	OMIM:147920
HP:0012639	Abnormal nervous system morphology	7403	KDM6A	ORPHA:2322
HP:0012639	Abnormal nervous system morphology	10262	SF3B4	OMIM:154400
HP:0012639	Abnormal nervous system morphology	8792	TNFRSF11A	OMIM:612301
HP:0012639	Abnormal nervous system morphology	672	BRCA1	ORPHA:84
HP:0012639	Abnormal nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	675	BRCA2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2175	FANCA	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2176	FANCC	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2178	FANCE	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2189	FANCG	ORPHA:84
HP:0012639	Abnormal nervous system morphology	5889	RAD51C	ORPHA:84
HP:0012639	Abnormal nervous system morphology	83990	BRIP1	ORPHA:84
HP:0012639	Abnormal nervous system morphology	79728	PALB2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	84464	SLX4	ORPHA:84
HP:0012639	Abnormal nervous system morphology	5340	PLG	ORPHA:722
HP:0012639	Abnormal nervous system morphology	5340	PLG	OMIM:217090
HP:0012639	Abnormal nervous system morphology	55697	VAC14	ORPHA:3472
HP:0012639	Abnormal nervous system morphology	3425	IDUA	OMIM:607014
HP:0012639	Abnormal nervous system morphology	3425	IDUA	ORPHA:93473
HP:0012639	Abnormal nervous system morphology	3192	HNRNPU	ORPHA:238769
HP:0012639	Abnormal nervous system morphology	5063	PAK3	OMIM:300558
HP:0012639	Abnormal nervous system morphology	64327	LMBR1	ORPHA:2378
HP:0012639	Abnormal nervous system morphology	3662	IRF4	ORPHA:3452
HP:0012639	Abnormal nervous system morphology	2776	GNAQ	ORPHA:3205
HP:0012639	Abnormal nervous system morphology	51134	CEP83	OMIM:615862
HP:0012639	Abnormal nervous system morphology	2719	GPC3	OMIM:312870
HP:0012639	Abnormal nervous system morphology	2239	GPC4	OMIM:312870
HP:0012639	Abnormal nervous system morphology	579	NKX3-2	OMIM:613330
HP:0012639	Abnormal nervous system morphology	26160	IFT172	OMIM:615630
HP:0012639	Abnormal nervous system morphology	7473	WNT3	ORPHA:3301
HP:0012639	Abnormal nervous system morphology	7473	WNT3	OMIM:273395
HP:0012639	Abnormal nervous system morphology	340419	RSPO2	ORPHA:3301
HP:0012639	Abnormal nervous system morphology	411	ARSB	OMIM:253200
HP:0012639	Abnormal nervous system morphology	5604	MAP2K1	ORPHA:1340
HP:0012639	Abnormal nervous system morphology	64093	SMOC1	ORPHA:1106
HP:0012639	Abnormal nervous system morphology	4758	NEU1	ORPHA:93400
HP:0012639	Abnormal nervous system morphology	112752	IFT43	OMIM:617866
HP:0012639	Abnormal nervous system morphology	2073	ERCC5	ORPHA:220295
HP:0012639	Abnormal nervous system morphology	6497	SKI	OMIM:182212
HP:0012639	Abnormal nervous system morphology	126792	B3GALT6	ORPHA:536467
HP:0012639	Abnormal nervous system morphology	2990	GUSB	OMIM:253220
HP:0012639	Abnormal nervous system morphology	9469	CHST3	OMIM:245600
HP:0012639	Abnormal nervous system morphology	26229	B3GAT3	OMIM:245600
HP:0012639	Abnormal nervous system morphology	5052	PRDX1	OMIM:277400
HP:0012639	Abnormal nervous system morphology	51399	TRAPPC4	OMIM:618741
HP:0012639	Abnormal nervous system morphology	1139	CHRNA7	ORPHA:199318
HP:0012639	Abnormal nervous system morphology	6228	RPS23	OMIM:617412
HP:0012639	Abnormal nervous system morphology	5932	RBBP8	OMIM:606744
HP:0012639	Abnormal nervous system morphology	5932	RBBP8	ORPHA:808
HP:0012639	Abnormal nervous system morphology	283489	CHAMP1	OMIM:616579
HP:0012639	Abnormal nervous system morphology	10111	RAD50	OMIM:613078
HP:0012639	Abnormal nervous system morphology	55681	SCYL2	OMIM:618766
HP:0012639	Abnormal nervous system morphology	5191	PEX7	OMIM:215100
HP:0012639	Abnormal nervous system morphology	5813	PURA	ORPHA:438216
HP:0012639	Abnormal nervous system morphology	79718	TBL1XR1	OMIM:602342
HP:0012639	Abnormal nervous system morphology	7358	UGDH	OMIM:618792
HP:0012639	Abnormal nervous system morphology	2904	GRIN2B	OMIM:616139
HP:0012639	Abnormal nervous system morphology	2904	GRIN2B	OMIM:613970
HP:0012639	Abnormal nervous system morphology	200424	TET3	OMIM:618798
HP:0012639	Abnormal nervous system morphology	54916	TMEM260	OMIM:617478
HP:0012639	Abnormal nervous system morphology	25836	NIPBL	OMIM:122470
HP:0012639	Abnormal nervous system morphology	25836	NIPBL	ORPHA:199
HP:0012639	Abnormal nervous system morphology	3155	HMGCL	ORPHA:20
HP:0012639	Abnormal nervous system morphology	3155	HMGCL	OMIM:246450
HP:0012639	Abnormal nervous system morphology	54517	PUS7	OMIM:618342
HP:0012639	Abnormal nervous system morphology	23114	NFASC	OMIM:618356
HP:0012639	Abnormal nervous system morphology	55777	MBD5	OMIM:156200
HP:0012639	Abnormal nervous system morphology	55777	MBD5	ORPHA:228402
HP:0012639	Abnormal nervous system morphology	2334	AFF2	OMIM:309548
HP:0012639	Abnormal nervous system morphology	3054	HCFC1	OMIM:309541
HP:0012639	Abnormal nervous system morphology	2019	EN1	OMIM:619218
HP:0012639	Abnormal nervous system morphology	23111	SPART	ORPHA:101000
HP:0012639	Abnormal nervous system morphology	4613	MYCN	OMIM:164280
HP:0012639	Abnormal nervous system morphology	4613	MYCN	ORPHA:391641
HP:0012639	Abnormal nervous system morphology	51729	WBP11	OMIM:619227
HP:0012639	Abnormal nervous system morphology	2707	GJB3	ORPHA:317
HP:0012639	Abnormal nervous system morphology	2531	KDSR	ORPHA:317
HP:0012639	Abnormal nervous system morphology	127534	GJB4	ORPHA:317
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	ORPHA:589618
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	OMIM:619934
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	OMIM:617284
HP:0012639	Abnormal nervous system morphology	27107	ZBTB11	OMIM:618383
HP:0012639	Abnormal nervous system morphology	8452	CUL3	OMIM:619239
HP:0012639	Abnormal nervous system morphology	7204	TRIO	OMIM:617061
HP:0012639	Abnormal nervous system morphology	23112	TNRC6B	OMIM:619243
HP:0012639	Abnormal nervous system morphology	201595	STT3B	ORPHA:370924
HP:0012639	Abnormal nervous system morphology	201595	STT3B	OMIM:615597
HP:0012639	Abnormal nervous system morphology	10436	EMG1	OMIM:211180
HP:0012639	Abnormal nervous system morphology	10436	EMG1	ORPHA:1270
HP:0012639	Abnormal nervous system morphology	10479	SLC9A6	ORPHA:85278
HP:0012639	Abnormal nervous system morphology	10479	SLC9A6	OMIM:300243
HP:0012639	Abnormal nervous system morphology	8242	KDM5C	ORPHA:85279
HP:0012639	Abnormal nervous system morphology	8242	KDM5C	OMIM:300534
HP:0012639	Abnormal nervous system morphology	81615	TMEM163	OMIM:620243
HP:0012639	Abnormal nervous system morphology	64131	XYLT1	ORPHA:370930
HP:0012639	Abnormal nervous system morphology	64131	XYLT1	OMIM:615777
HP:0012639	Abnormal nervous system morphology	55181	SMG8	OMIM:619268
HP:0012639	Abnormal nervous system morphology	25886	POC1A	OMIM:614813
HP:0012639	Abnormal nervous system morphology	5138	PDE2A	OMIM:619150
HP:0012639	Abnormal nervous system morphology	128	ADH5	OMIM:619151
HP:0012639	Abnormal nervous system morphology	64374	SIL1	OMIM:248800
HP:0012639	Abnormal nervous system morphology	64374	SIL1	ORPHA:559
HP:0012639	Abnormal nervous system morphology	26960	NBEA	OMIM:619157
HP:0012639	Abnormal nervous system morphology	613	BCR	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	1399	CRKL	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	5594	MAPK1	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	5594	MAPK1	OMIM:619087
HP:0012639	Abnormal nervous system morphology	9640	ZNF592	ORPHA:83472
HP:0012639	Abnormal nervous system morphology	150468	CKAP2L	ORPHA:3255
HP:0012639	Abnormal nervous system morphology	150468	CKAP2L	OMIM:272440
HP:0012639	Abnormal nervous system morphology	3242	HPD	OMIM:140350
HP:0012639	Abnormal nervous system morphology	338657	CENATAC	OMIM:620153
HP:0012639	Abnormal nervous system morphology	25778	DSTYK	OMIM:270750
HP:0012639	Abnormal nervous system morphology	56992	KIF15	ORPHA:261323
HP:0012639	Abnormal nervous system morphology	56992	KIF15	OMIM:619981
HP:0012639	Abnormal nervous system morphology	4718	NDUFC2	OMIM:619170
HP:0012639	Abnormal nervous system morphology	92579	G6PC3	OMIM:612541
HP:0012639	Abnormal nervous system morphology	222663	SCUBE3	OMIM:619184
HP:0012639	Abnormal nervous system morphology	23036	ZNF292	OMIM:619188
HP:0012639	Abnormal nervous system morphology	63894	VIPAS39	OMIM:613404
HP:0012639	Abnormal nervous system morphology	83879	CDCA7	OMIM:616910
HP:0012639	Abnormal nervous system morphology	84947	SERAC1	OMIM:614739
HP:0012639	Abnormal nervous system morphology	54084	TSPEAR	OMIM:620173
HP:0012639	Abnormal nervous system morphology	3675	ITGA3	OMIM:614748
HP:0012639	Abnormal nervous system morphology	23137	SMC5	OMIM:620185
HP:0012639	Abnormal nervous system morphology	79759	ZNF668	OMIM:620194
HP:0012639	Abnormal nervous system morphology	388015	RTL1	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	8788	DLK1	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	55384	MEG3	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	81887	LAS1L	OMIM:309585
HP:0012639	Abnormal nervous system morphology	79902	NUP85	ORPHA:808
HP:0012639	Abnormal nervous system morphology	84126	ATRIP	ORPHA:808
HP:0012639	Abnormal nervous system morphology	51567	TDP2	OMIM:616949
HP:0012639	Abnormal nervous system morphology	9894	TELO2	OMIM:616954
HP:0012639	Abnormal nervous system morphology	9837	GINS1	OMIM:617827
HP:0012639	Abnormal nervous system morphology	79840	NHEJ1	ORPHA:169079
HP:0012639	Abnormal nervous system morphology	197131	UBR1	ORPHA:2315
HP:0012639	Abnormal nervous system morphology	197131	UBR1	OMIM:243800
HP:0012639	Abnormal nervous system morphology	55180	LINS1	OMIM:614340
HP:0012639	Abnormal nervous system morphology	80152	CENPT	OMIM:618702
HP:0012639	Abnormal nervous system morphology	6697	SPR	ORPHA:70594
HP:0012639	Abnormal nervous system morphology	6697	SPR	OMIM:612716
HP:0012639	Abnormal nervous system morphology	6134	RPL10	ORPHA:435938
HP:0012639	Abnormal nervous system morphology	6134	RPL10	OMIM:300998
HP:0012639	Abnormal nervous system morphology	6134	RPL10	ORPHA:459070
HP:0012639	Abnormal nervous system morphology	953	ENTPD1	OMIM:615683
HP:0012639	Abnormal nervous system morphology	953	ENTPD1	ORPHA:401810
HP:0012639	Abnormal nervous system morphology	84628	NTNG2	OMIM:618718
HP:0012639	Abnormal nervous system morphology	55691	FRMD4A	ORPHA:466688
HP:0012639	Abnormal nervous system morphology	84700	MYO18B	OMIM:616549
HP:0012639	Abnormal nervous system morphology	2182	ACSL4	OMIM:300387
HP:0012639	Abnormal nervous system morphology	65057	ACD	OMIM:616553
HP:0012639	Abnormal nervous system morphology	65057	ACD	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	51763	INPP5K	OMIM:617404
HP:0012639	Abnormal nervous system morphology	51763	INPP5K	ORPHA:559
HP:0012639	Abnormal nervous system morphology	246329	STAC3	OMIM:255995
HP:0012639	Abnormal nervous system morphology	8367	H4C5	OMIM:619950
HP:0012639	Abnormal nervous system morphology	5361	PLXNA1	OMIM:619955
HP:0012639	Abnormal nervous system morphology	197	AHSG	ORPHA:2850
HP:0012639	Abnormal nervous system morphology	3694	ITGB6	ORPHA:2850
HP:0012639	Abnormal nervous system morphology	28960	DCPS	OMIM:616459
HP:0012639	Abnormal nervous system morphology	10559	SLC35A1	OMIM:603585
HP:0012639	Abnormal nervous system morphology	80153	EDC3	OMIM:616460
HP:0012639	Abnormal nervous system morphology	55870	ASH1L	OMIM:617796
HP:0012639	Abnormal nervous system morphology	25885	POLR1A	OMIM:616462
HP:0012639	Abnormal nervous system morphology	816	CAMK2B	OMIM:617799
HP:0012639	Abnormal nervous system morphology	815	CAMK2A	OMIM:617798
HP:0012639	Abnormal nervous system morphology	23184	MESD	OMIM:618644
HP:0012639	Abnormal nervous system morphology	55109	AGGF1	ORPHA:90308
HP:0012639	Abnormal nervous system morphology	7469	NELFA	ORPHA:280
HP:0012639	Abnormal nervous system morphology	1501	CTNND2	ORPHA:281
HP:0012639	Abnormal nervous system morphology	9037	SEMA5A	ORPHA:281
HP:0012639	Abnormal nervous system morphology	26057	ANKRD17	OMIM:619504
HP:0012639	Abnormal nervous system morphology	55623	THUMPD1	OMIM:619989
HP:0012639	Abnormal nervous system morphology	9935	MAFB	ORPHA:233
HP:0012639	Abnormal nervous system morphology	1123	CHN1	ORPHA:233
HP:0012639	Abnormal nervous system morphology	253738	EBF3	OMIM:617330
HP:0012639	Abnormal nervous system morphology	286	ANK1	ORPHA:251066
HP:0012639	Abnormal nervous system morphology	5860	QDPR	ORPHA:226
HP:0012639	Abnormal nervous system morphology	5860	QDPR	OMIM:261630
HP:0012639	Abnormal nervous system morphology	7385	UQCRC2	OMIM:615160
HP:0012639	Abnormal nervous system morphology	7750	ZMYM2	OMIM:619522
HP:0012639	Abnormal nervous system morphology	9922	IQSEC1	OMIM:618687
HP:0012639	Abnormal nervous system morphology	57479	PRR12	OMIM:619539
HP:0012639	Abnormal nervous system morphology	1173	AP2M1	ORPHA:1942
HP:0012639	Abnormal nervous system morphology	1106	CHD2	ORPHA:1942
HP:0012639	Abnormal nervous system morphology	6529	SLC6A1	ORPHA:1942
HP:0012639	Abnormal nervous system morphology	5587	PRKD1	OMIM:617364
HP:0012639	Abnormal nervous system morphology	54808	DYM	ORPHA:239
HP:0012639	Abnormal nervous system morphology	54808	DYM	OMIM:223800
HP:0012639	Abnormal nervous system morphology	54808	DYM	OMIM:607326
HP:0012639	Abnormal nervous system morphology	51750	RTEL1	OMIM:615190
HP:0012639	Abnormal nervous system morphology	51750	RTEL1	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	30000	TNPO2	OMIM:619556
HP:0012639	Abnormal nervous system morphology	498	ATP5F1A	OMIM:616045
HP:0012639	Abnormal nervous system morphology	55869	HDAC8	OMIM:300882
HP:0012639	Abnormal nervous system morphology	55869	HDAC8	ORPHA:199
HP:0012639	Abnormal nervous system morphology	92344	GORAB	OMIM:231070
HP:0012639	Abnormal nervous system morphology	6898	TAT	ORPHA:28378
HP:0012639	Abnormal nervous system morphology	80324	PUS1	OMIM:600462
HP:0012639	Abnormal nervous system morphology	80324	PUS1	ORPHA:2598
HP:0012639	Abnormal nervous system morphology	9496	TBX4	ORPHA:261279
HP:0012639	Abnormal nervous system morphology	10524	KAT5	OMIM:619103
HP:0012639	Abnormal nervous system morphology	9451	EIF2AK3	OMIM:226980
HP:0012639	Abnormal nervous system morphology	9451	EIF2AK3	ORPHA:1667
HP:0012639	Abnormal nervous system morphology	5000	ORC4	OMIM:613800
HP:0012639	Abnormal nervous system morphology	5000	ORC4	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	81620	CDT1	OMIM:613804
HP:0012639	Abnormal nervous system morphology	81620	CDT1	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	23594	ORC6	OMIM:613803
HP:0012639	Abnormal nervous system morphology	23594	ORC6	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	990	CDC6	OMIM:613805
HP:0012639	Abnormal nervous system morphology	990	CDC6	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	50814	NSDHL	OMIM:300831
HP:0012639	Abnormal nervous system morphology	50814	NSDHL	ORPHA:251383
HP:0012639	Abnormal nervous system morphology	10847	SRCAP	OMIM:619595
HP:0012639	Abnormal nervous system morphology	55526	DHTKD1	OMIM:204750
HP:0012639	Abnormal nervous system morphology	526	ATP6V1B2	ORPHA:79500
HP:0012639	Abnormal nervous system morphology	90416	CCDC32	OMIM:619123
HP:0012639	Abnormal nervous system morphology	3739	KCNA4	OMIM:618284
HP:0012639	Abnormal nervous system morphology	8665	EIF3F	OMIM:618295
HP:0012639	Abnormal nervous system morphology	221692	PHACTR1	OMIM:618298
HP:0012639	Abnormal nervous system morphology	3763	KCNJ6	ORPHA:435628
HP:0012639	Abnormal nervous system morphology	3763	KCNJ6	OMIM:614098
HP:0012639	Abnormal nervous system morphology	55325	UFSP2	OMIM:620028
HP:0012639	Abnormal nervous system morphology	5111	PCNA	OMIM:615919
HP:0012639	Abnormal nervous system morphology	5111	PCNA	ORPHA:438134
HP:0012639	Abnormal nervous system morphology	183	AGT	OMIM:267430
HP:0012639	Abnormal nervous system morphology	5972	REN	OMIM:267430
HP:0012639	Abnormal nervous system morphology	185	AGTR1	OMIM:267430
HP:0012639	Abnormal nervous system morphology	1636	ACE	OMIM:267430
HP:0012639	Abnormal nervous system morphology	54968	TMEM70	ORPHA:1194
HP:0012639	Abnormal nervous system morphology	5689	PSMB1	OMIM:620038
HP:0012639	Abnormal nervous system morphology	10472	ZBTB18	ORPHA:36367
HP:0012639	Abnormal nervous system morphology	10472	ZBTB18	OMIM:612337
HP:0012639	Abnormal nervous system morphology	7298	TYMS	OMIM:620040
HP:0012639	Abnormal nervous system morphology	4212	MEIS2	OMIM:600987
HP:0012639	Abnormal nervous system morphology	4212	MEIS2	ORPHA:261190
HP:0012639	Abnormal nervous system morphology	26053	AUTS2	ORPHA:352490
HP:0012639	Abnormal nervous system morphology	26053	AUTS2	OMIM:615834
HP:0012639	Abnormal nervous system morphology	1802	DPH2	OMIM:620062
HP:0012639	Abnormal nervous system morphology	55027	HEATR3	OMIM:620072
HP:0012639	Abnormal nervous system morphology	5700	PSMC1	OMIM:620071
HP:0012639	Abnormal nervous system morphology	3187	HNRNPH1	OMIM:620083
HP:0012639	Abnormal nervous system morphology	5073	PARN	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	5073	PARN	OMIM:616353
HP:0012639	Abnormal nervous system morphology	26277	TINF2	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	26277	TINF2	OMIM:613990
HP:0012639	Abnormal nervous system morphology	1736	DKC1	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	1736	DKC1	OMIM:305000
HP:0012639	Abnormal nervous system morphology	92154	MTSS2	OMIM:620086
HP:0012639	Abnormal nervous system morphology	197322	ACSF3	ORPHA:289504
HP:0012639	Abnormal nervous system morphology	2702	GJA5	OMIM:612474
HP:0012639	Abnormal nervous system morphology	2703	GJA8	OMIM:612474
HP:0012639	Abnormal nervous system morphology	55690	PACS1	ORPHA:329224
HP:0012639	Abnormal nervous system morphology	10664	CTCF	OMIM:615502
HP:0012639	Abnormal nervous system morphology	10664	CTCF	ORPHA:363611
HP:0012639	Abnormal nervous system morphology	6307	MSMO1	OMIM:616834
HP:0012639	Abnormal nervous system morphology	1828	DSG1	OMIM:615508
HP:0012639	Abnormal nervous system morphology	3720	JARID2	OMIM:620098
HP:0012639	Abnormal nervous system morphology	55784	MCTP2	ORPHA:1596
HP:0012639	Abnormal nervous system morphology	6301	SARS1	OMIM:617709
HP:0012639	Abnormal nervous system morphology	55997	CFC1	OMIM:605376
HP:0012639	Abnormal nervous system morphology	26224	FBXL3	OMIM:606220
HP:0012639	Abnormal nervous system morphology	83987	CCDC8	OMIM:614205
HP:0012639	Abnormal nervous system morphology	23443	SLC35A3	OMIM:615553
HP:0012639	Abnormal nervous system morphology	202018	TAPT1	OMIM:616897
HP:0012639	Abnormal nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0012639	Abnormal nervous system morphology	3815	KIT	ORPHA:2884
HP:0012639	Abnormal nervous system morphology	3756	KCNH1	ORPHA:420561
HP:0012639	Abnormal nervous system morphology	9320	TRIP12	OMIM:617752
HP:0012639	Abnormal nervous system morphology	1663	DDX11	OMIM:613398
HP:0012639	Abnormal nervous system morphology	23498	HAAO	OMIM:617660
HP:0012639	Abnormal nervous system morphology	8942	KYNU	OMIM:617661
HP:0012639	Abnormal nervous system morphology	3149	HMGB3	OMIM:300915
HP:0012639	Abnormal nervous system morphology	288	ANK3	OMIM:615493
HP:0012639	Abnormal nervous system morphology	7994	KAT6A	ORPHA:457193
HP:0012639	Abnormal nervous system morphology	7994	KAT6A	OMIM:616268
HP:0012639	Abnormal nervous system morphology	788	SLC25A20	ORPHA:159
HP:0012639	Abnormal nervous system morphology	5590	PRKCZ	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	2563	GABRD	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	8510	MMP23B	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	7798	LUZP1	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	10630	PDPN	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	10277	UBE4B	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	8514	KCNAB2	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	63976	PRDM16	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	54897	CASZ1	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	83479	DDX59	ORPHA:2919
HP:0012639	Abnormal nervous system morphology	83479	DDX59	OMIM:174300
HP:0012639	Abnormal nervous system morphology	56098	PCDHGC4	OMIM:619880
HP:0012639	Abnormal nervous system morphology	4285	MIPEP	OMIM:617228
HP:0012639	Abnormal nervous system morphology	641	BLM	OMIM:210900
HP:0012639	Abnormal nervous system morphology	84295	PHF6	ORPHA:127
HP:0012639	Abnormal nervous system morphology	84295	PHF6	OMIM:301900
HP:0012639	Abnormal nervous system morphology	6135	RPL11	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6138	RPL15	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6229	RPS24	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6125	RPL5	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6204	RPS10	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6224	RPS20	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6165	RPL35A	ORPHA:124
HP:0012639	Abnormal nervous system morphology	2623	GATA1	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6223	RPS19	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6223	RPS19	OMIM:105650
HP:0012639	Abnormal nervous system morphology	6232	RPS27	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6231	RPS26	ORPHA:124
HP:0012639	Abnormal nervous system morphology	11224	RPL35	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6160	RPL31	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6218	RPS17	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6201	RPS7	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6155	RPL27	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6154	RPL26	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6210	RPS15A	ORPHA:124
HP:0012639	Abnormal nervous system morphology	90121	TSR2	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6141	RPL18	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6235	RPS29	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6234	RPS28	ORPHA:124
HP:0012639	Abnormal nervous system morphology	55656	INTS8	OMIM:618572
HP:0012639	Abnormal nervous system morphology	51574	LARP7	OMIM:615071
HP:0012639	Abnormal nervous system morphology	84894	LINGO1	OMIM:618103
HP:0012639	Abnormal nervous system morphology	8473	OGT	OMIM:300997
HP:0012639	Abnormal nervous system morphology	6418	SET	OMIM:618106
HP:0012639	Abnormal nervous system morphology	51132	RLIM	OMIM:300978
HP:0012639	Abnormal nervous system morphology	4998	ORC1	OMIM:224690
HP:0012639	Abnormal nervous system morphology	4998	ORC1	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	27341	RRP7A	OMIM:619453
HP:0012639	Abnormal nervous system morphology	3376	IARS1	ORPHA:541423
HP:0012639	Abnormal nervous system morphology	538	ATP7A	ORPHA:565
HP:0012639	Abnormal nervous system morphology	538	ATP7A	OMIM:309400
HP:0012639	Abnormal nervous system morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012639	Abnormal nervous system morphology	55651	NHP2	OMIM:224230
HP:0012639	Abnormal nervous system morphology	55505	NOP10	OMIM:224230
HP:0012639	Abnormal nervous system morphology	7227	TRPS1	ORPHA:502
HP:0012639	Abnormal nervous system morphology	374879	ZNF699	OMIM:619488
HP:0012639	Abnormal nervous system morphology	60676	PAPPA2	OMIM:619489
HP:0012639	Abnormal nervous system morphology	407975	MIR17HG	ORPHA:391646
HP:0012639	Abnormal nervous system morphology	63899	NSUN3	OMIM:619012
HP:0012639	Abnormal nervous system morphology	2193	FARSA	OMIM:619013
HP:0012639	Abnormal nervous system morphology	5557	PRIM1	OMIM:620005
HP:0012639	Abnormal nervous system morphology	64432	MRPS25	OMIM:619025
HP:0012639	Abnormal nervous system morphology	55294	FBXW7	OMIM:620012
HP:0012639	Abnormal nervous system morphology	10225	CD96	OMIM:211750
HP:0012639	Abnormal nervous system morphology	10225	CD96	ORPHA:1308
HP:0012639	Abnormal nervous system morphology	1763	DNA2	OMIM:615807
HP:0012639	Abnormal nervous system morphology	80204	FBXO11	OMIM:618089
HP:0012639	Abnormal nervous system morphology	23325	WASHC4	OMIM:615817
HP:0012639	Abnormal nervous system morphology	7156	TOP3A	OMIM:618097
HP:0012639	Abnormal nervous system morphology	1009	CDH11	ORPHA:1299
HP:0012639	Abnormal nervous system morphology	51067	YARS2	ORPHA:2598
HP:0012639	Abnormal nervous system morphology	79228	THOC6	OMIM:613680
HP:0012639	Abnormal nervous system morphology	5648	MASP1	OMIM:257920
HP:0012639	Abnormal nervous system morphology	26115	TANC2	OMIM:618906
HP:0012639	Abnormal nervous system morphology	54101	RIPK4	ORPHA:1234
HP:0012639	Abnormal nervous system morphology	3176	HNMT	OMIM:616739
HP:0012639	Abnormal nervous system morphology	3759	KCNJ2	OMIM:170390
HP:0012639	Abnormal nervous system morphology	100506658	OCLN	ORPHA:1229
HP:0012639	Abnormal nervous system morphology	100506658	OCLN	OMIM:251290
HP:0012639	Abnormal nervous system morphology	23476	BRD4	ORPHA:199
HP:0012639	Abnormal nervous system morphology	9126	SMC3	ORPHA:199
HP:0012639	Abnormal nervous system morphology	51520	LARS1	OMIM:615438
HP:0012639	Abnormal nervous system morphology	55617	TASP1	OMIM:618950
HP:0012639	Abnormal nervous system morphology	60528	ELAC2	OMIM:615440
HP:0012639	Abnormal nervous system morphology	28957	MRPS28	OMIM:618958
HP:0012639	Abnormal nervous system morphology	7991	TUSC3	OMIM:611093
HP:0012639	Abnormal nervous system morphology	1804	DPP6	ORPHA:2514
HP:0012639	Abnormal nervous system morphology	1804	DPP6	OMIM:616311
HP:0012639	Abnormal nervous system morphology	4621	MYH3	ORPHA:2990
HP:0012639	Abnormal nervous system morphology	4621	MYH3	OMIM:178110
HP:0012639	Abnormal nervous system morphology	4621	MYH3	OMIM:193700
HP:0012639	Abnormal nervous system morphology	1146	CHRNG	ORPHA:2990
HP:0012639	Abnormal nervous system morphology	55367	PIDD1	OMIM:619827
HP:0012639	Abnormal nervous system morphology	3021	H3-3B	OMIM:619721
HP:0012639	Abnormal nervous system morphology	4056	LTC4S	OMIM:614037
HP:0012639	Abnormal nervous system morphology	72	ACTG2	ORPHA:2604
HP:0012639	Abnormal nervous system morphology	472	ATM	OMIM:208900
HP:0012639	Abnormal nervous system morphology	3781	KCNN2	OMIM:619725
HP:0012639	Abnormal nervous system morphology	137492	VPS37A	ORPHA:319199
HP:0012639	Abnormal nervous system morphology	2590	GALNT2	OMIM:618885
HP:0012639	Abnormal nervous system morphology	51319	RSRC1	OMIM:618402
HP:0012639	Abnormal nervous system morphology	23761	PISD	OMIM:618889
HP:0012639	Abnormal nervous system morphology	339983	NAT8L	OMIM:614063
HP:0012639	Abnormal nervous system morphology	8879	SGPL1	OMIM:617575
HP:0012639	Abnormal nervous system morphology	8364	H4C3	OMIM:619758
HP:0012639	Abnormal nervous system morphology	145258	GSC	OMIM:602471
HP:0012639	Abnormal nervous system morphology	9993	DGCR2	OMIM:192430
HP:0012639	Abnormal nervous system morphology	8220	ESS2	OMIM:192430
HP:0012639	Abnormal nervous system morphology	8214	DGCR6	OMIM:192430
HP:0012639	Abnormal nervous system morphology	54487	DGCR8	OMIM:192430
HP:0012639	Abnormal nervous system morphology	6878	TAF6	OMIM:617126
HP:0012639	Abnormal nervous system morphology	54892	NCAPG2	OMIM:618460
HP:0012639	Abnormal nervous system morphology	51728	POLR3K	OMIM:619310
HP:0012639	Abnormal nervous system morphology	6650	CAPN15	OMIM:619318
HP:0012639	Abnormal nervous system morphology	221496	LEMD2	OMIM:619322
HP:0012639	Abnormal nervous system morphology	4081	MAB21L1	OMIM:618479
HP:0012639	Abnormal nervous system morphology	2530	FUT8	OMIM:618005
HP:0012639	Abnormal nervous system morphology	26276	VPS33B	OMIM:208085
HP:0012639	Abnormal nervous system morphology	372	ARCN1	OMIM:617164
HP:0012639	Abnormal nervous system morphology	54681	P4HTM	OMIM:618493
HP:0012639	Abnormal nervous system morphology	37	ACADVL	OMIM:201475
HP:0012639	Abnormal nervous system morphology	5281	PIGF	OMIM:619356
HP:0012639	Abnormal nervous system morphology	10681	GNB5	OMIM:617182
HP:0012639	Abnormal nervous system morphology	79143	MBOAT7	OMIM:617188
HP:0012639	Abnormal nervous system morphology	627	BDNF	ORPHA:893
HP:0012639	Abnormal nervous system morphology	23554	TSPAN12	ORPHA:891
HP:0012639	Abnormal nervous system morphology	79797	ZNF408	ORPHA:891
HP:0012639	Abnormal nervous system morphology	8322	FZD4	ORPHA:891
HP:0012639	Abnormal nervous system morphology	11011	TLK2	OMIM:618050
HP:0012639	Abnormal nervous system morphology	81555	YIPF5	OMIM:619278
HP:0012639	Abnormal nervous system morphology	3899	AFF3	OMIM:619297
HP:0012639	Abnormal nervous system morphology	36	ACADSB	OMIM:610006
HP:0012639	Abnormal nervous system morphology	8546	AP3B1	OMIM:608233
HP:0012639	Abnormal nervous system morphology	51199	NIN	OMIM:614851
HP:0012639	Abnormal nervous system morphology	51199	NIN	ORPHA:319675
HP:0012639	Abnormal nervous system morphology	197257	LDHD	OMIM:245450
HP:0012639	Abnormal nervous system morphology	375748	ERCC6L2	OMIM:615715
HP:0012639	Abnormal nervous system morphology	10280	SIGMAR1	ORPHA:300605
HP:0012639	Abnormal nervous system morphology	162417	NAGS	ORPHA:927
HP:0012639	Abnormal nervous system morphology	50628	GEMIN4	OMIM:617913
HP:0012639	Abnormal nervous system morphology	867	CBL	OMIM:613563
HP:0012639	Abnormal nervous system morphology	7507	XPA	ORPHA:910
HP:0012639	Abnormal nervous system morphology	7507	XPA	OMIM:278700
HP:0012639	Abnormal nervous system morphology	7508	XPC	ORPHA:910
HP:0012639	Abnormal nervous system morphology	1643	DDB2	ORPHA:910
HP:0012639	Abnormal nervous system morphology	55187	VPS13D	OMIM:607317
HP:0012639	Abnormal nervous system morphology	10157	AASS	ORPHA:2203
HP:0012639	Abnormal nervous system morphology	5429	POLH	OMIM:278750
HP:0012639	Abnormal nervous system morphology	20	ABCA2	OMIM:618808
HP:0012639	Abnormal nervous system morphology	6785	ELOVL4	OMIM:614457
HP:0012639	Abnormal nervous system morphology	2584	GALK1	ORPHA:79237
HP:0012639	Abnormal nervous system morphology	54870	QRICH1	OMIM:617982
HP:0012639	Abnormal nervous system morphology	23397	NCAPH	OMIM:617985
HP:0012639	Abnormal nervous system morphology	158326	FREM1	OMIM:614485
HP:0012639	Abnormal nervous system morphology	23133	PHF8	OMIM:300263
HP:0012639	Abnormal nervous system morphology	51733	UPB1	OMIM:613161
HP:0012639	Abnormal nervous system morphology	23001	WDFY3	OMIM:617520
HP:0012639	Abnormal nervous system morphology	35	ACADS	ORPHA:26792
HP:0012639	Abnormal nervous system morphology	91452	ACBD5	OMIM:618863
HP:0012639	Abnormal nervous system morphology	51660	MPC1	OMIM:614741
HP:0012639	Abnormal nervous system morphology	8818	DPM2	ORPHA:329178
HP:0012639	Abnormal nervous system morphology	22845	DOLK	ORPHA:91131
HP:0012639	Abnormal nervous system morphology	4247	MGAT2	ORPHA:79329
HP:0012639	Abnormal nervous system morphology	8318	CDC45	OMIM:617063
HP:0012639	Abnormal nervous system morphology	4190	MDH1	OMIM:618959
HP:0012639	Abnormal nervous system morphology	54862	CC2D1A	OMIM:608443
HP:0012639	Abnormal nervous system morphology	63908	NAPB	OMIM:620033
HP:0012639	Abnormal nervous system morphology	9342	SNAP29	OMIM:609528
HP:0012639	Abnormal nervous system morphology	203190	LGI3	OMIM:620007
HP:0012639	Abnormal nervous system morphology	51294	PCDH12	OMIM:251280
HP:0012639	Abnormal nervous system morphology	9343	EFTUD2	OMIM:610536
HP:0012639	Abnormal nervous system morphology	220	ALDH1A3	OMIM:615113
HP:0012639	Abnormal nervous system morphology	775	CACNA1C	OMIM:620029
HP:0012639	Abnormal nervous system morphology	84282	RNF135	ORPHA:137634
HP:0012639	Abnormal nervous system morphology	1788	DNMT3A	OMIM:615879
HP:0012639	Abnormal nervous system morphology	51807	TUBA8	ORPHA:250972
HP:0012639	Abnormal nervous system morphology	8854	ALDH1A2	OMIM:620025
HP:0012639	Abnormal nervous system morphology	8405	SPOP	OMIM:618828
HP:0012639	Abnormal nervous system morphology	5293	PIK3CD	ORPHA:221139
HP:0012639	Abnormal nervous system morphology	90417	KNSTRN	ORPHA:221139
HP:0012639	Abnormal nervous system morphology	415	ARSL	ORPHA:79345
HP:0012639	Abnormal nervous system morphology	256297	PTF1A	OMIM:609069
HP:0012639	Abnormal nervous system morphology	256297	PTF1A	ORPHA:65288
HP:0012639	Abnormal nervous system morphology	55210	ATAD3A	ORPHA:496790
HP:0012639	Abnormal nervous system morphology	57459	GATAD2B	ORPHA:363686
HP:0012639	Abnormal nervous system morphology	5605	MAP2K2	OMIM:615280
HP:0012639	Abnormal nervous system morphology	8443	GNPAT	OMIM:222765
HP:0012639	Abnormal nervous system morphology	8882	ZPR1	OMIM:619321
HP:0012639	Abnormal nervous system morphology	55215	FANCI	OMIM:609053
HP:0012639	Abnormal nervous system morphology	5500	PPP1CB	OMIM:617506
HP:0012639	Abnormal nervous system morphology	1063	CENPF	OMIM:243605
HP:0012639	Abnormal nervous system morphology	9401	RECQL4	OMIM:218600
HP:0012639	Abnormal nervous system morphology	80173	IFT74	OMIM:619582
HP:0012639	Abnormal nervous system morphology	7545	ZIC1	OMIM:618736
HP:0012639	Abnormal nervous system morphology	4791	NFKB2	ORPHA:293978
HP:0012639	Abnormal nervous system morphology	4791	NFKB2	OMIM:615577
HP:0012639	Abnormal nervous system morphology	6909	TBX2	OMIM:618223
HP:0012639	Abnormal nervous system morphology	5122	PCSK1	ORPHA:71528
HP:0012639	Abnormal nervous system morphology	22800	RRAS2	OMIM:618624
HP:0012639	Abnormal nervous system morphology	8675	STX16	ORPHA:94089
HP:0012639	Abnormal nervous system morphology	7681	MKRN3	OMIM:176270
HP:0012639	Abnormal nervous system morphology	3653	IPW	OMIM:176270
HP:0012639	Abnormal nervous system morphology	791114	PWRN1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	8924	HERC2	OMIM:176270
HP:0012639	Abnormal nervous system morphology	145624	PWAR1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	23742	NPAP1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	338433	SNORD115-1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	27125	AFF4	ORPHA:444077
HP:0012639	Abnormal nervous system morphology	55315	SLC29A3	OMIM:602782
HP:0012639	Abnormal nervous system morphology	55159	RFWD3	OMIM:617784
HP:0012639	Abnormal nervous system morphology	2693	GHSR	OMIM:615925
HP:0012639	Abnormal nervous system morphology	134218	DNAJC21	ORPHA:811
HP:0012639	Abnormal nervous system morphology	79631	EFL1	ORPHA:811
HP:0012639	Abnormal nervous system morphology	51119	SBDS	ORPHA:811
HP:0012639	Abnormal nervous system morphology	6729	SRP54	ORPHA:811
HP:0012639	Abnormal nervous system morphology	2188	FANCF	OMIM:603467
HP:0012639	Abnormal nervous system morphology	6777	STAT5B	OMIM:245590
HP:0012639	Abnormal nervous system morphology	9581	PREPL	OMIM:616224
HP:0012639	Abnormal nervous system morphology	55699	IARS2	ORPHA:436174
HP:0012639	Abnormal nervous system morphology	55699	IARS2	OMIM:616007
HP:0012639	Abnormal nervous system morphology	79184	BRCC3	ORPHA:280679
HP:0012639	Abnormal nervous system morphology	5308	PITX2	OMIM:180500
HP:0012639	Abnormal nervous system morphology	7840	ALMS1	OMIM:203800
HP:0012639	Abnormal nervous system morphology	7840	ALMS1	ORPHA:64
HP:0012639	Abnormal nervous system morphology	157680	VPS13B	OMIM:216550
HP:0012639	Abnormal nervous system morphology	5718	PSMD12	ORPHA:529962
HP:0012639	Abnormal nervous system morphology	2186	BPTF	ORPHA:529962
HP:0012639	Abnormal nervous system morphology	4297	KMT2A	ORPHA:319182
HP:0012639	Abnormal nervous system morphology	2783	GNB2	OMIM:619503
HP:0012639	Abnormal nervous system morphology	1028	CDKN1C	OMIM:614732
HP:0012639	Abnormal nervous system morphology	54	ACP5	ORPHA:1855
HP:0012639	Abnormal nervous system morphology	9056	SLC7A7	ORPHA:470
HP:0012639	Abnormal nervous system morphology	80067	DCAF17	ORPHA:3464
HP:0012639	Abnormal nervous system morphology	2887	GRB10	ORPHA:96182
HP:0012639	Abnormal nervous system morphology	695	BTK	OMIM:307200
HP:0012639	Abnormal nervous system morphology	5144	PDE4D	ORPHA:280651
HP:0012639	Abnormal nervous system morphology	79644	SRD5A3	ORPHA:324737
HP:0012639	Abnormal nervous system morphology	5426	POLE	OMIM:618336
HP:0012639	Abnormal nervous system morphology	51053	GMNN	OMIM:616835
HP:0012639	Abnormal nervous system morphology	6664	SOX11	OMIM:615866
HP:0012639	Abnormal nervous system morphology	7080	NKX2-1	OMIM:610978
HP:0012639	Abnormal nervous system morphology	157570	ESCO2	OMIM:216100
HP:0012639	Abnormal nervous system morphology	60401	EDA2R	ORPHA:181
HP:0012639	Abnormal nervous system morphology	1896	EDA	ORPHA:181
HP:0012639	Abnormal nervous system morphology	4509	MT-ATP8	ORPHA:480
HP:0012639	Abnormal nervous system morphology	340719	NANOS1	ORPHA:399808
HP:0012639	Abnormal nervous system morphology	340719	NANOS1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	668	FOXL2	OMIM:110100
HP:0012639	Abnormal nervous system morphology	2492	FSHR	ORPHA:64739
HP:0012639	Abnormal nervous system morphology	2492	FSHR	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2492	FSHR	OMIM:233300
HP:0012639	Abnormal nervous system morphology	3973	LHCGR	OMIM:238320
HP:0012639	Abnormal nervous system morphology	29893	PSMC3IP	ORPHA:243
HP:0012639	Abnormal nervous system morphology	171568	POLR3H	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2516	NR5A1	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2516	NR5A1	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	2516	NR5A1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	125150	ZSWIM7	ORPHA:243
HP:0012639	Abnormal nervous system morphology	9210	BMP15	ORPHA:243
HP:0012639	Abnormal nervous system morphology	23514	SPIDR	ORPHA:243
HP:0012639	Abnormal nervous system morphology	646	BNC1	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2099	ESR1	ORPHA:785
HP:0012639	Abnormal nervous system morphology	23395	LARS2	OMIM:615300
HP:0012639	Abnormal nervous system morphology	2332	FMR1	OMIM:311360
HP:0012639	Abnormal nervous system morphology	6736	SRY	ORPHA:1772
HP:0012639	Abnormal nervous system morphology	6736	SRY	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	6845	VAMP7	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	4214	MAP3K1	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	58524	DMRT3	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	57647	DHX37	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	23414	ZFPM2	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	190	NR0B1	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	2626	GATA4	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	56154	TEX15	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	6875	TAF4B	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	56155	TEX14	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	7516	XRCC2	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	254528	MEIOB	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	91057	CCDC34	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	402381	SOHLH1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	317719	KLHL10	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	56159	TEX11	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	57697	FANCM	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	1080	CFTR	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	84225	ZMYND15	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	122402	TDRD9	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	154197	PNLDC1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	93426	SYCE1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	50511	SYCP3	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	3248	HPGD	ORPHA:2796
HP:0012639	Abnormal nervous system morphology	6578	SLCO2A1	ORPHA:2796
HP:0012639	Abnormal nervous system morphology	3767	KCNJ11	ORPHA:79644
HP:0012639	Abnormal nervous system morphology	3479	IGF1	OMIM:608747
HP:0012639	Abnormal nervous system morphology	551	AVP	OMIM:125700
HP:0012639	Abnormal nervous system morphology	8626	TP63	OMIM:604292
HP:0012639	Abnormal nervous system morphology	5373	PMM2	ORPHA:79318
HP:0012639	Abnormal nervous system morphology	55154	MSTO1	OMIM:617675
HP:0012639	Abnormal nervous system morphology	55154	MSTO1	ORPHA:502423
HP:0012639	Abnormal nervous system morphology	2778	GNAS	OMIM:174800
HP:0012639	Abnormal nervous system morphology	2778	GNAS	ORPHA:562
HP:0012639	Abnormal nervous system morphology	5618	PRLR	OMIM:615555
HP:0012639	Abnormal nervous system morphology	7201	TRHR	ORPHA:99832
HP:0012639	Abnormal nervous system morphology	64072	CDH23	ORPHA:91347
HP:0012639	Abnormal nervous system morphology	7252	TSHB	ORPHA:90674
HP:0012639	Abnormal nervous system morphology	8567	MADD	OMIM:619004
HP:0012639	Abnormal nervous system morphology	4035	LRP1	ORPHA:79100
HP:0012639	Abnormal nervous system morphology	4099	MAG	OMIM:616680
HP:0012639	Abnormal nervous system morphology	23446	SLC44A1	OMIM:618868
HP:0012639	Abnormal nervous system morphology	10026	PIGK	OMIM:618879
HP:0012639	Abnormal nervous system morphology	146057	TTBK2	OMIM:604432
HP:0012639	Abnormal nervous system morphology	8560	DEGS1	OMIM:618404
HP:0012639	Abnormal nervous system morphology	343641	TGM6	ORPHA:276193
HP:0012639	Abnormal nervous system morphology	343641	TGM6	OMIM:613908
HP:0012639	Abnormal nervous system morphology	10715	CERS1	OMIM:616230
HP:0012639	Abnormal nervous system morphology	10935	PRDX3	OMIM:619862
HP:0012639	Abnormal nervous system morphology	950	SCARB2	OMIM:254900
HP:0012639	Abnormal nervous system morphology	146227	BEAN1	ORPHA:217012
HP:0012639	Abnormal nervous system morphology	146227	BEAN1	OMIM:117210
HP:0012639	Abnormal nervous system morphology	197258	FCSK	OMIM:618324
HP:0012639	Abnormal nervous system morphology	23102	TBC1D2B	OMIM:619323
HP:0012639	Abnormal nervous system morphology	25929	GEMIN5	OMIM:619333
HP:0012639	Abnormal nervous system morphology	3746	KCNC1	OMIM:616187
HP:0012639	Abnormal nervous system morphology	1938	EEF2	ORPHA:101112
HP:0012639	Abnormal nervous system morphology	1938	EEF2	OMIM:609306
HP:0012639	Abnormal nervous system morphology	23316	CUX2	OMIM:618141
HP:0012639	Abnormal nervous system morphology	2799	GNS	OMIM:252940
HP:0012639	Abnormal nervous system morphology	383	ARG1	OMIM:207800
HP:0012639	Abnormal nervous system morphology	84274	COQ5	OMIM:619028
HP:0012639	Abnormal nervous system morphology	64858	DCLRE1B	OMIM:620133
HP:0012639	Abnormal nervous system morphology	55129	ANO10	OMIM:613728
HP:0012639	Abnormal nervous system morphology	55129	ANO10	ORPHA:284289
HP:0012639	Abnormal nervous system morphology	26090	ABHD12	OMIM:612674
HP:0012639	Abnormal nervous system morphology	9711	RUBCN	OMIM:615705
HP:0012639	Abnormal nervous system morphology	7915	ALDH5A1	OMIM:271980
HP:0012639	Abnormal nervous system morphology	3752	KCND3	ORPHA:98772
HP:0012639	Abnormal nervous system morphology	3752	KCND3	OMIM:607346
HP:0012639	Abnormal nervous system morphology	7274	TTPA	OMIM:277460
HP:0012639	Abnormal nervous system morphology	80207	OPA3	ORPHA:67036
HP:0012639	Abnormal nervous system morphology	27235	COQ2	OMIM:607426
HP:0012639	Abnormal nervous system morphology	63035	BCORL1	OMIM:301029
HP:0012639	Abnormal nervous system morphology	9512	PMPCB	OMIM:617954
HP:0012639	Abnormal nervous system morphology	7515	XRCC1	OMIM:617633
HP:0012639	Abnormal nervous system morphology	2196	FAT2	OMIM:617769
HP:0012639	Abnormal nervous system morphology	3476	IGBP1	OMIM:300472
HP:0012639	Abnormal nervous system morphology	3476	IGBP1	ORPHA:52055
HP:0012639	Abnormal nervous system morphology	1024	CDK8	OMIM:618748
HP:0012639	Abnormal nervous system morphology	2731	GLDC	OMIM:605899
HP:0012639	Abnormal nervous system morphology	275	AMT	OMIM:605899
HP:0012639	Abnormal nervous system morphology	129563	DIS3L2	OMIM:267000
HP:0012639	Abnormal nervous system morphology	23512	SUZ12	OMIM:618786
HP:0012639	Abnormal nervous system morphology	6558	SLC12A2	OMIM:619083
HP:0012639	Abnormal nervous system morphology	164	AP1G1	OMIM:619548
HP:0012639	Abnormal nervous system morphology	2657	GDF1	OMIM:208530
HP:0012639	Abnormal nervous system morphology	26191	PTPN22	ORPHA:397
HP:0012639	Abnormal nervous system morphology	26191	PTPN22	ORPHA:900
HP:0012639	Abnormal nervous system morphology	8974	P4HA2	ORPHA:397
HP:0012639	Abnormal nervous system morphology	64170	CARD9	OMIM:212050
HP:0012639	Abnormal nervous system morphology	7454	WAS	ORPHA:906
HP:0012639	Abnormal nervous system morphology	7456	WIPF1	ORPHA:906
HP:0012639	Abnormal nervous system morphology	1493	CTLA4	ORPHA:900
HP:0012639	Abnormal nervous system morphology	3115	HLA-DPB1	ORPHA:900
HP:0012639	Abnormal nervous system morphology	5657	PRTN3	ORPHA:900
HP:0012639	Abnormal nervous system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012639	Abnormal nervous system morphology	1776	DNASE1L3	ORPHA:36412
HP:0012639	Abnormal nervous system morphology	596	BCL2	ORPHA:545
HP:0012639	Abnormal nervous system morphology	3492	IGH	ORPHA:545
HP:0012639	Abnormal nervous system morphology	604	BCL6	ORPHA:545
HP:0012639	Abnormal nervous system morphology	5896	RAG1	OMIM:601457
HP:0012639	Abnormal nervous system morphology	5897	RAG2	OMIM:601457
HP:0012639	Abnormal nervous system morphology	58484	NLRC4	OMIM:616050
HP:0012639	Abnormal nervous system morphology	3718	JAK3	OMIM:600802
HP:0012639	Abnormal nervous system morphology	629	CFB	OMIM:615561
HP:0012639	Abnormal nervous system morphology	3543	IGLL1	OMIM:613500
HP:0012639	Abnormal nervous system morphology	3543	IGLL1	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	732	C8B	OMIM:613789
HP:0012639	Abnormal nervous system morphology	114548	NLRP3	OMIM:607115
HP:0012639	Abnormal nervous system morphology	114548	NLRP3	ORPHA:1451
HP:0012639	Abnormal nervous system morphology	1536	CYBB	ORPHA:379
HP:0012639	Abnormal nervous system morphology	4688	NCF2	ORPHA:379
HP:0012639	Abnormal nervous system morphology	1535	CYBA	ORPHA:379
HP:0012639	Abnormal nervous system morphology	4689	NCF4	ORPHA:379
HP:0012639	Abnormal nervous system morphology	79415	CYBC1	ORPHA:379
HP:0012639	Abnormal nervous system morphology	2215	FCGR3B	ORPHA:464370
HP:0012639	Abnormal nervous system morphology	23495	TNFRSF13B	OMIM:240500
HP:0012639	Abnormal nervous system morphology	115650	TNFRSF13C	OMIM:240500
HP:0012639	Abnormal nervous system morphology	1380	CR2	OMIM:240500
HP:0012639	Abnormal nervous system morphology	29851	ICOS	OMIM:240500
HP:0012639	Abnormal nervous system morphology	930	CD19	OMIM:240500
HP:0012639	Abnormal nervous system morphology	7037	TFRC	OMIM:616740
HP:0012639	Abnormal nervous system morphology	731	C8A	OMIM:613790
HP:0012639	Abnormal nervous system morphology	57591	MRTFA	OMIM:618847
HP:0012639	Abnormal nervous system morphology	10095	ARPC1B	OMIM:617718
HP:0012639	Abnormal nervous system morphology	7852	CXCR4	ORPHA:51636
HP:0012639	Abnormal nervous system morphology	721	C4B	OMIM:614379
HP:0012639	Abnormal nervous system morphology	6688	SPI1	OMIM:619707
HP:0012639	Abnormal nervous system morphology	6929	TCF3	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	973	CD79A	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	974	CD79B	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	3507	IGHM	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	29760	BLNK	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	5295	PIK3R1	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	56262	LRRC8A	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	2248	FGF3	ORPHA:90024
HP:0012639	Abnormal nervous system morphology	760	CA2	ORPHA:2785
HP:0012639	Abnormal nervous system morphology	6331	SCN5A	OMIM:614022
HP:0012639	Abnormal nervous system morphology	6331	SCN5A	OMIM:601154
HP:0012639	Abnormal nervous system morphology	7148	TNXB	ORPHA:230839
HP:0012639	Abnormal nervous system morphology	5009	OTC	OMIM:311250
HP:0012639	Abnormal nervous system morphology	2997	GYS1	OMIM:611556
HP:0012639	Abnormal nervous system morphology	7174	TPP2	ORPHA:444463
HP:0012639	Abnormal nervous system morphology	2908	NR3C1	ORPHA:786
HP:0012639	Abnormal nervous system morphology	2908	NR3C1	ORPHA:96253
HP:0012639	Abnormal nervous system morphology	10560	SLC19A2	ORPHA:49827
HP:0012639	Abnormal nervous system morphology	10560	SLC19A2	OMIM:249270
HP:0012639	Abnormal nervous system morphology	11093	ADAMTS13	OMIM:274150
HP:0012639	Abnormal nervous system morphology	84196	USP48	ORPHA:96253
HP:0012639	Abnormal nervous system morphology	9149	DYRK1B	OMIM:615812
HP:0012639	Abnormal nervous system morphology	54790	TET2	ORPHA:729
HP:0012639	Abnormal nervous system morphology	5346	PLIN1	OMIM:613877
HP:0012639	Abnormal nervous system morphology	3291	HSD11B2	ORPHA:320
HP:0012639	Abnormal nervous system morphology	2318	FLNC	OMIM:617047
HP:0012639	Abnormal nervous system morphology	2318	FLNC	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	10370	CITED2	ORPHA:99105
HP:0012639	Abnormal nervous system morphology	10370	CITED2	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	7092	TLL1	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	57057	TBX20	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	4624	MYH6	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	1482	NKX2-5	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	70	ACTC1	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	4607	MYBPC3	OMIM:115197
HP:0012639	Abnormal nervous system morphology	5167	ENPP1	ORPHA:51608
HP:0012639	Abnormal nervous system morphology	7139	TNNT2	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	7137	TNNI3	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	10112	KIF20A	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	189	AGXT	ORPHA:93598
HP:0012639	Abnormal nervous system morphology	10269	ZMPSTE24	ORPHA:740
HP:0012639	Abnormal nervous system morphology	64132	XYLT2	OMIM:264800
HP:0012639	Abnormal nervous system morphology	80206	FHOD3	OMIM:619402
HP:0012639	Abnormal nervous system morphology	2982	GUCY1A1	ORPHA:401945
HP:0012639	Abnormal nervous system morphology	50485	SMARCAL1	ORPHA:1830
HP:0012639	Abnormal nervous system morphology	50485	SMARCAL1	OMIM:242900
HP:0012639	Abnormal nervous system morphology	182	JAG1	OMIM:118450
HP:0012639	Abnormal nervous system morphology	28976	ACAD9	OMIM:611126
HP:0012639	Abnormal nervous system morphology	2147	F2	OMIM:601367
HP:0012639	Abnormal nervous system morphology	4846	NOS3	OMIM:601367
HP:0012639	Abnormal nervous system morphology	5583	PRKCH	OMIM:601367
HP:0012639	Abnormal nervous system morphology	2153	F5	OMIM:601367
HP:0012639	Abnormal nervous system morphology	241	ALOX5AP	OMIM:601367
HP:0012639	Abnormal nervous system morphology	445	ASS1	OMIM:215700
HP:0012639	Abnormal nervous system morphology	875	CBS	OMIM:236200
HP:0012639	Abnormal nervous system morphology	4615	MYD88	ORPHA:33226
HP:0012639	Abnormal nervous system morphology	4878	NPPA	OMIM:615745
HP:0012639	Abnormal nervous system morphology	1373	CPS1	OMIM:237300
HP:0012639	Abnormal nervous system morphology	7535	ZAP70	ORPHA:911
HP:0012639	Abnormal nervous system morphology	2879	GPX4	ORPHA:93317
HP:0012639	Abnormal nervous system morphology	23417	MLYCD	OMIM:248360
HP:0012639	Abnormal nervous system morphology	10716	TBR1	OMIM:606053
HP:0012639	Abnormal nervous system morphology	9508	ADAMTS3	ORPHA:2136
HP:0012639	Abnormal nervous system morphology	147372	CCBE1	ORPHA:2136
HP:0012639	Abnormal nervous system morphology	147372	CCBE1	OMIM:235510
HP:0012639	Abnormal nervous system morphology	10319	LAMC3	OMIM:614115
HP:0012639	Abnormal nervous system morphology	84978	FRMD5	OMIM:620094
HP:0012639	Abnormal nervous system morphology	2108	ETFA	OMIM:231680
HP:0012639	Abnormal nervous system morphology	2109	ETFB	OMIM:231680
HP:0012639	Abnormal nervous system morphology	2110	ETFDH	OMIM:231680
HP:0012639	Abnormal nervous system morphology	55112	DYNC2I1	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	57560	IFT80	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	57539	WDR35	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	79659	DYNC2H1	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	89891	DYNC2I2	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	27031	NPHP3	OMIM:267010
HP:0012639	Abnormal nervous system morphology	27031	NPHP3	OMIM:208540
HP:0012639	Abnormal nervous system morphology	27031	NPHP3	ORPHA:3032
HP:0012639	Abnormal nervous system morphology	10804	GJB6	ORPHA:477
HP:0012639	Abnormal nervous system morphology	2706	GJB2	ORPHA:477
HP:0012639	Abnormal nervous system morphology	4927	NUP88	ORPHA:994
HP:0012639	Abnormal nervous system morphology	4654	MYOD1	ORPHA:994
HP:0012639	Abnormal nervous system morphology	2121	EVC	OMIM:225500
HP:0012639	Abnormal nervous system morphology	132884	EVC2	OMIM:225500
HP:0012639	Abnormal nervous system morphology	3784	KCNQ1	OMIM:130650
HP:0012639	Abnormal nervous system morphology	10613	ERLIN1	ORPHA:401785
HP:0012639	Abnormal nervous system morphology	10613	ERLIN1	OMIM:615681
HP:0012639	Abnormal nervous system morphology	6609	SMPD1	ORPHA:77293
HP:0012639	Abnormal nervous system morphology	10483	SEC23B	ORPHA:201
HP:0012639	Abnormal nervous system morphology	205717	USF3	ORPHA:201
HP:0012639	Abnormal nervous system morphology	100144748	KLLN	ORPHA:201
HP:0012639	Abnormal nervous system morphology	2583	B4GALNT1	ORPHA:101006
HP:0012639	Abnormal nervous system morphology	22884	WDR37	OMIM:618652
HP:0012639	Abnormal nervous system morphology	81790	RNF170	OMIM:608984
HP:0012639	Abnormal nervous system morphology	23241	PACS2	OMIM:618067
HP:0012639	Abnormal nervous system morphology	10501	SEMA6B	OMIM:618876
HP:0012639	Abnormal nervous system morphology	22897	CEP164	OMIM:614845
HP:0012639	Abnormal nervous system morphology	54974	THG1L	OMIM:618800
HP:0012639	Abnormal nervous system morphology	492	ATP2B3	ORPHA:314978
HP:0012639	Abnormal nervous system morphology	2296	FOXC1	OMIM:602482
HP:0012639	Abnormal nervous system morphology	2296	FOXC1	OMIM:601631
HP:0012639	Abnormal nervous system morphology	4352	MPL	OMIM:604498
HP:0012639	Abnormal nervous system morphology	55280	CWF19L1	OMIM:616127
HP:0012639	Abnormal nervous system morphology	55280	CWF19L1	ORPHA:453521
HP:0012639	Abnormal nervous system morphology	57020	VPS35L	OMIM:619135
HP:0012639	Abnormal nervous system morphology	79023	NUP37	OMIM:618179
HP:0012639	Abnormal nervous system morphology	9181	ARHGEF2	OMIM:617523
HP:0012639	Abnormal nervous system morphology	11253	MAN1B1	ORPHA:397941
HP:0012639	Abnormal nervous system morphology	11253	MAN1B1	OMIM:614202
HP:0012639	Abnormal nervous system morphology	83700	JAM3	OMIM:613730
HP:0012639	Abnormal nervous system morphology	85300	ATCAY	ORPHA:94122
HP:0012639	Abnormal nervous system morphology	85300	ATCAY	OMIM:601238
HP:0012639	Abnormal nervous system morphology	6507	SLC1A3	OMIM:612656
HP:0012639	Abnormal nervous system morphology	535	ATP6V0A1	OMIM:619971
HP:0012639	Abnormal nervous system morphology	57231	SNX14	OMIM:616354
HP:0012639	Abnormal nervous system morphology	55165	CEP55	OMIM:236500
HP:0012639	Abnormal nervous system morphology	8733	GPAA1	ORPHA:529665
HP:0012639	Abnormal nervous system morphology	8733	GPAA1	OMIM:617810
HP:0012639	Abnormal nervous system morphology	9474	ATG5	OMIM:617584
HP:0012639	Abnormal nervous system morphology	125988	MICOS13	OMIM:618329
HP:0012639	Abnormal nervous system morphology	29929	ALG6	ORPHA:79320
HP:0012639	Abnormal nervous system morphology	51117	COQ4	OMIM:616276
HP:0012639	Abnormal nervous system morphology	10243	GPHN	OMIM:615501
HP:0012639	Abnormal nervous system morphology	10273	STUB1	OMIM:615768
HP:0012639	Abnormal nervous system morphology	10273	STUB1	ORPHA:412057
HP:0012639	Abnormal nervous system morphology	27185	DISC1	ORPHA:171703
HP:0012639	Abnormal nervous system morphology	8320	EOMES	ORPHA:171703
HP:0012639	Abnormal nervous system morphology	7012	TERC	OMIM:127550
HP:0012639	Abnormal nervous system morphology	64221	ROBO3	OMIM:607313
HP:0012639	Abnormal nervous system morphology	26007	TKFC	OMIM:618805
HP:0012639	Abnormal nervous system morphology	6712	SPTBN2	OMIM:600224
HP:0012639	Abnormal nervous system morphology	3188	HNRNPH2	OMIM:300986
HP:0012639	Abnormal nervous system morphology	55164	SHQ1	OMIM:619922
HP:0012639	Abnormal nervous system morphology	7291	TWIST1	OMIM:617746
HP:0012639	Abnormal nervous system morphology	55074	OXR1	OMIM:213000
HP:0012639	Abnormal nervous system morphology	23404	EXOSC2	OMIM:617763
HP:0012639	Abnormal nervous system morphology	3052	HCCS	OMIM:309801
HP:0012639	Abnormal nervous system morphology	3052	HCCS	ORPHA:2556
HP:0012639	Abnormal nervous system morphology	2146	EZH2	OMIM:277590
HP:0012639	Abnormal nervous system morphology	55790	CSGALNACT1	OMIM:618870
HP:0012639	Abnormal nervous system morphology	55503	TRPV6	OMIM:618188
HP:0012639	Abnormal nervous system morphology	131405	TRIM71	OMIM:618667
HP:0012639	Abnormal nervous system morphology	3070	HELLS	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	1789	DNMT3B	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	9841	ZBTB24	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	2615	LRRC32	OMIM:619074
HP:0012639	Abnormal nervous system morphology	6938	TCF12	OMIM:615314
HP:0012639	Abnormal nervous system morphology	4036	LRP2	OMIM:222448
HP:0012639	Abnormal nervous system morphology	412	STS	ORPHA:281090
HP:0012639	Abnormal nervous system morphology	1908	EDN3	ORPHA:897
HP:0012639	Abnormal nervous system morphology	4286	MITF	ORPHA:897
HP:0012639	Abnormal nervous system morphology	1471	CST3	OMIM:105150
HP:0012639	Abnormal nervous system morphology	1471	CST3	ORPHA:100008
HP:0012639	Abnormal nervous system morphology	94	ACVRL1	OMIM:600376
HP:0012639	Abnormal nervous system morphology	94	ACVRL1	ORPHA:774
HP:0012639	Abnormal nervous system morphology	3717	JAK2	OMIM:133100
HP:0012639	Abnormal nervous system morphology	3717	JAK2	OMIM:263300
HP:0012639	Abnormal nervous system morphology	10019	SH2B3	OMIM:133100
HP:0012639	Abnormal nervous system morphology	2057	EPOR	OMIM:133100
HP:0012639	Abnormal nervous system morphology	2677	GGCX	OMIM:277450
HP:0012639	Abnormal nervous system morphology	8517	IKBKG	OMIM:301081
HP:0012639	Abnormal nervous system morphology	2335	FN1	ORPHA:84090
HP:0012639	Abnormal nervous system morphology	368	ABCC6	OMIM:177850
HP:0012639	Abnormal nervous system morphology	351	APP	ORPHA:324713
HP:0012639	Abnormal nervous system morphology	351	APP	ORPHA:324703
HP:0012639	Abnormal nervous system morphology	351	APP	ORPHA:324708
HP:0012639	Abnormal nervous system morphology	351	APP	ORPHA:100006
HP:0012639	Abnormal nervous system morphology	3075	CFH	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	3426	CFI	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	4179	CD46	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	101101692	HELLPAR	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	5627	PROS1	OMIM:614514
HP:0012639	Abnormal nervous system morphology	2165	F13B	ORPHA:331
HP:0012639	Abnormal nervous system morphology	2162	F13A1	ORPHA:331
HP:0012639	Abnormal nervous system morphology	2658	GDF2	ORPHA:774
HP:0012639	Abnormal nervous system morphology	442721	LMOD2	OMIM:619897
HP:0012639	Abnormal nervous system morphology	6773	STAT2	OMIM:618886
HP:0012639	Abnormal nervous system morphology	2034	EPAS1	ORPHA:276621
HP:0012639	Abnormal nervous system morphology	9103	FCGR2C	ORPHA:3002
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	OMIM:218800
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	OMIM:237900
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	ORPHA:79234
HP:0012639	Abnormal nervous system morphology	6007	RHD	OMIM:619462
HP:0012639	Abnormal nervous system morphology	274	BIN1	ORPHA:169186
HP:0012639	Abnormal nervous system morphology	10290	SPEG	ORPHA:169186
HP:0012639	Abnormal nervous system morphology	6261	RYR1	ORPHA:169186
HP:0012639	Abnormal nervous system morphology	6261	RYR1	ORPHA:98905
HP:0012639	Abnormal nervous system morphology	7273	TTN	ORPHA:169186
HP:0012639	Abnormal nervous system morphology	5428	POLG	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	56652	TWNK	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	11232	POLG2	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	4359	MPZ	OMIM:618184
HP:0012639	Abnormal nervous system morphology	91574	MTRFR	ORPHA:254930
HP:0012639	Abnormal nervous system morphology	91574	MTRFR	OMIM:613559
HP:0012639	Abnormal nervous system morphology	8506	CNTNAP1	OMIM:618186
HP:0012639	Abnormal nervous system morphology	8506	CNTNAP1	OMIM:616286
HP:0012639	Abnormal nervous system morphology	112	ADCY6	OMIM:616287
HP:0012639	Abnormal nervous system morphology	7170	TPM3	OMIM:609284
HP:0012639	Abnormal nervous system morphology	7170	TPM3	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	7170	TPM3	ORPHA:171433
HP:0012639	Abnormal nervous system morphology	7415	VCP	ORPHA:329478
HP:0012639	Abnormal nervous system morphology	7169	TPM2	OMIM:609285
HP:0012639	Abnormal nervous system morphology	7169	TPM2	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	7169	TPM2	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	7084	TK2	OMIM:609560
HP:0012639	Abnormal nervous system morphology	1410	CRYAB	ORPHA:399058
HP:0012639	Abnormal nervous system morphology	84665	MYPN	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	58	ACTA1	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	58	ACTA1	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	58	ACTA1	ORPHA:171433
HP:0012639	Abnormal nervous system morphology	58	ACTA1	ORPHA:171430
HP:0012639	Abnormal nervous system morphology	390594	KBTBD13	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	4703	NEB	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	4703	NEB	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	4703	NEB	ORPHA:171433
HP:0012639	Abnormal nervous system morphology	4703	NEB	ORPHA:171430
HP:0012639	Abnormal nervous system morphology	10324	KLHL41	ORPHA:171439
HP:0012639	Abnormal nervous system morphology	10324	KLHL41	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	10324	KLHL41	ORPHA:171433
HP:0012639	Abnormal nervous system morphology	10324	KLHL41	ORPHA:171430
HP:0012639	Abnormal nervous system morphology	19	ABCA1	OMIM:205400
HP:0012639	Abnormal nervous system morphology	19	ABCA1	ORPHA:31150
HP:0012639	Abnormal nervous system morphology	113278	SLC52A3	OMIM:211500
HP:0012639	Abnormal nervous system morphology	56203	LMOD3	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	56203	LMOD3	ORPHA:171430
HP:0012639	Abnormal nervous system morphology	1073	CFL2	ORPHA:171436
HP:0012639	Abnormal nervous system morphology	6472	SHMT2	OMIM:619121
HP:0012639	Abnormal nervous system morphology	131377	KLHL40	ORPHA:171430
HP:0012639	Abnormal nervous system morphology	10730	YME1L1	OMIM:617302
HP:0012639	Abnormal nervous system morphology	1760	DMPK	OMIM:160900
HP:0012639	Abnormal nervous system morphology	9990	SLC12A6	OMIM:218000
HP:0012639	Abnormal nervous system morphology	50964	SOST	OMIM:122860
HP:0012639	Abnormal nervous system morphology	5296	PIK3R2	OMIM:603387
HP:0012639	Abnormal nervous system morphology	5296	PIK3R2	ORPHA:83473
HP:0012639	Abnormal nervous system morphology	6611	SMS	ORPHA:3063
HP:0012639	Abnormal nervous system morphology	8925	HERC1	ORPHA:457359
HP:0012639	Abnormal nervous system morphology	8925	HERC1	OMIM:617011
HP:0012639	Abnormal nervous system morphology	51256	TBC1D7	OMIM:248000
HP:0012639	Abnormal nervous system morphology	894	CCND2	ORPHA:83473
HP:0012639	Abnormal nervous system morphology	894	CCND2	OMIM:615938
HP:0012639	Abnormal nervous system morphology	10000	AKT3	ORPHA:83473
HP:0012639	Abnormal nervous system morphology	92335	STRADA	ORPHA:500533
HP:0012639	Abnormal nervous system morphology	92335	STRADA	OMIM:611087
HP:0012639	Abnormal nervous system morphology	116442	RAB39B	OMIM:311510
HP:0012639	Abnormal nervous system morphology	220296	HEPACAM	OMIM:604004
HP:0012639	Abnormal nervous system morphology	220296	HEPACAM	OMIM:613925
HP:0012639	Abnormal nervous system morphology	220296	HEPACAM	OMIM:613926
HP:0012639	Abnormal nervous system morphology	23209	MLC1	OMIM:604004
HP:0012639	Abnormal nervous system morphology	8738	CRADD	OMIM:614499
HP:0012639	Abnormal nervous system morphology	2475	MTOR	ORPHA:457485
HP:0012639	Abnormal nervous system morphology	2475	MTOR	OMIM:616638
HP:0012639	Abnormal nervous system morphology	443	ASPA	ORPHA:314911
HP:0012639	Abnormal nervous system morphology	5396	PRRX1	ORPHA:990
HP:0012639	Abnormal nervous system morphology	5396	PRRX1	OMIM:202650
HP:0012639	Abnormal nervous system morphology	5015	OTX2	ORPHA:990
HP:0012639	Abnormal nervous system morphology	5015	OTX2	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	27238	GPKOW	ORPHA:2570
HP:0012639	Abnormal nervous system morphology	4659	PPP1R12A	OMIM:618820
HP:0012639	Abnormal nervous system morphology	5626	PROP1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	89884	LHX4	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	3170	FOXA2	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	5449	POU1F1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	8820	HESX1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	6299	SALL1	OMIM:107480
HP:0012639	Abnormal nervous system morphology	3199	HOXA2	ORPHA:83463
HP:0012639	Abnormal nervous system morphology	22858	CILK1	OMIM:612651
HP:0012639	Abnormal nervous system morphology	55636	CHD7	ORPHA:138
HP:0012639	Abnormal nervous system morphology	55636	CHD7	OMIM:214800
HP:0012639	Abnormal nervous system morphology	9723	SEMA3E	ORPHA:138
HP:0012639	Abnormal nervous system morphology	5925	RB1	ORPHA:1587
HP:0012639	Abnormal nervous system morphology	9184	BUB3	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	699	BUB1	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	9702	CEP57	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	9319	TRIP13	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	3897	L1CAM	ORPHA:2182
HP:0012639	Abnormal nervous system morphology	124997	WDR81	OMIM:617967
HP:0012639	Abnormal nervous system morphology	4524	MTHFR	ORPHA:395
HP:0012639	Abnormal nervous system morphology	2072	ERCC4	OMIM:278760
HP:0012639	Abnormal nervous system morphology	23314	SATB2	ORPHA:251028
HP:0012639	Abnormal nervous system morphology	4052	LTBP1	ORPHA:90349
HP:0012639	Abnormal nervous system morphology	30008	EFEMP2	ORPHA:90349
HP:0012639	Abnormal nervous system morphology	10516	FBLN5	ORPHA:90349
HP:0012639	Abnormal nervous system morphology	201163	FLCN	OMIM:610883
HP:0012639	Abnormal nervous system morphology	79087	ALG12	ORPHA:79324
HP:0012639	Abnormal nervous system morphology	25981	DNAH1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	115948	ODAD3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54768	HYDIN	ORPHA:244
HP:0012639	Abnormal nervous system morphology	352909	DNAAF3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	27148	STK36	ORPHA:244
HP:0012639	Abnormal nervous system morphology	51314	NME8	ORPHA:244
HP:0012639	Abnormal nervous system morphology	92749	DRC1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54970	TTC12	ORPHA:244
HP:0012639	Abnormal nervous system morphology	152110	NEK10	ORPHA:244
HP:0012639	Abnormal nervous system morphology	2302	FOXJ1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	221421	RSPH9	ORPHA:244
HP:0012639	Abnormal nervous system morphology	85478	CCDC65	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55036	CCDC40	ORPHA:244
HP:0012639	Abnormal nervous system morphology	51364	ZMYND10	ORPHA:244
HP:0012639	Abnormal nervous system morphology	64446	DNAI2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	6674	SPAG1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83544	DNAL1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	89765	RSPH1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83538	ODAD4	ORPHA:244
HP:0012639	Abnormal nervous system morphology	200373	CFAP221	ORPHA:244
HP:0012639	Abnormal nervous system morphology	374407	DNAJB13	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55172	DNAAF2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	161582	DNAAF4	ORPHA:244
HP:0012639	Abnormal nervous system morphology	2622	GAS8	ORPHA:244
HP:0012639	Abnormal nervous system morphology	23639	DNAAF11	ORPHA:244
HP:0012639	Abnormal nervous system morphology	27019	DNAI1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	345895	RSPH4A	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54919	DNAAF5	ORPHA:244
HP:0012639	Abnormal nervous system morphology	6103	RPGR	ORPHA:244
HP:0012639	Abnormal nervous system morphology	388389	CCDC103	ORPHA:244
HP:0012639	Abnormal nervous system morphology	93233	ODAD1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55130	ODAD2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	1767	DNAH5	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83861	RSPH3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	345643	MCIDAS	ORPHA:244
HP:0012639	Abnormal nervous system morphology	56683	CFAP298	ORPHA:244
HP:0012639	Abnormal nervous system morphology	79925	SPEF2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	10309	CCNO	ORPHA:244
HP:0012639	Abnormal nervous system morphology	115399	LRRC56	ORPHA:244
HP:0012639	Abnormal nervous system morphology	139212	DNAAF6	ORPHA:244
HP:0012639	Abnormal nervous system morphology	123872	DNAAF1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	85016	CFAP300	ORPHA:244
HP:0012639	Abnormal nervous system morphology	339829	CCDC39	ORPHA:244
HP:0012639	Abnormal nervous system morphology	8701	DNAH11	ORPHA:244
HP:0012639	Abnormal nervous system morphology	1770	DNAH9	ORPHA:244
HP:0012639	Abnormal nervous system morphology	246176	GAS2L2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	652	BMP4	OMIM:607932
HP:0012639	Abnormal nervous system morphology	53834	FGFRL1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	1487	CTBP1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	3954	LETM1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	7468	NSD2	OMIM:194190
HP:0012639	Abnormal nervous system morphology	10815	CPLX1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	5274	SERPINI1	OMIM:604218
HP:0012639	Abnormal nervous system morphology	10749	KIF1C	ORPHA:397946
HP:0012639	Abnormal nervous system morphology	10749	KIF1C	OMIM:611302
HP:0012639	Abnormal nervous system morphology	6515	SLC2A3	ORPHA:399
HP:0012639	Abnormal nervous system morphology	27183	VPS4A	OMIM:619273
HP:0012639	Abnormal nervous system morphology	1497	CTNS	OMIM:219800
HP:0012639	Abnormal nervous system morphology	199857	ALG14	OMIM:619036
HP:0012639	Abnormal nervous system morphology	51102	MECR	ORPHA:508093
HP:0012639	Abnormal nervous system morphology	5723	PSPH	OMIM:614023
HP:0012639	Abnormal nervous system morphology	5393	EXOSC9	OMIM:618065
HP:0012639	Abnormal nervous system morphology	51569	UFM1	OMIM:617899
HP:0012639	Abnormal nervous system morphology	60684	TRAPPC11	OMIM:615356
HP:0012639	Abnormal nervous system morphology	60684	TRAPPC11	ORPHA:369847
HP:0012639	Abnormal nervous system morphology	10466	COG5	OMIM:613612
HP:0012639	Abnormal nervous system morphology	1786	DNMT1	ORPHA:314404
HP:0012639	Abnormal nervous system morphology	1786	DNMT1	OMIM:614116
HP:0012639	Abnormal nervous system morphology	4552	MTRR	OMIM:236270
HP:0012639	Abnormal nervous system morphology	162	AP1B1	OMIM:242150
HP:0012639	Abnormal nervous system morphology	9442	MED27	OMIM:619286
HP:0012639	Abnormal nervous system morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012639	Abnormal nervous system morphology	1841	DTYMK	OMIM:619847
HP:0012639	Abnormal nervous system morphology	16	AARS1	OMIM:616339
HP:0012639	Abnormal nervous system morphology	16	AARS1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	54476	RNF216	OMIM:212840
HP:0012639	Abnormal nervous system morphology	26580	BSCL2	OMIM:615924
HP:0012639	Abnormal nervous system morphology	26580	BSCL2	ORPHA:363400
HP:0012639	Abnormal nervous system morphology	9382	COG1	OMIM:611209
HP:0012639	Abnormal nervous system morphology	79693	YRDC	OMIM:619609
HP:0012639	Abnormal nervous system morphology	23250	ATP11A	OMIM:619851
HP:0012639	Abnormal nervous system morphology	7345	UCHL1	OMIM:615491
HP:0012639	Abnormal nervous system morphology	5105	PCK1	OMIM:261680
HP:0012639	Abnormal nervous system morphology	64207	IRF2BPL	OMIM:618088
HP:0012639	Abnormal nervous system morphology	55037	PTCD3	OMIM:619057
HP:0012639	Abnormal nervous system morphology	91869	RFT1	ORPHA:244310
HP:0012639	Abnormal nervous system morphology	91869	RFT1	OMIM:612015
HP:0012639	Abnormal nervous system morphology	8772	FADD	OMIM:613759
HP:0012639	Abnormal nervous system morphology	8772	FADD	ORPHA:306550
HP:0012639	Abnormal nervous system morphology	5095	PCCA	OMIM:606054
HP:0012639	Abnormal nervous system morphology	5096	PCCB	OMIM:606054
HP:0012639	Abnormal nervous system morphology	7466	WFS1	OMIM:222300
HP:0012639	Abnormal nervous system morphology	5833	PCYT2	OMIM:618770
HP:0012639	Abnormal nervous system morphology	4598	MVK	OMIM:610377
HP:0012639	Abnormal nervous system morphology	3737	KCNA2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	10991	SLC38A3	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	51343	FZR1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	22906	TRAK1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	1917	EEF1A2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	1917	EEF1A2	OMIM:616393
HP:0012639	Abnormal nervous system morphology	2561	GABRB2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	8831	SYNGAP1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	7532	YWHAG	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2906	GRIN2D	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2906	GRIN2D	OMIM:617162
HP:0012639	Abnormal nervous system morphology	116150	NUS1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	10659	CELF2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	774	CACNA1B	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	774	CACNA1B	OMIM:618497
HP:0012639	Abnormal nervous system morphology	1213	CLTC	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23334	SZT2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	348980	HCN1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	8867	SYNJ1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2258	FGF13	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2258	FGF13	OMIM:301058
HP:0012639	Abnormal nervous system morphology	3745	KCNB1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	284111	SLC13A5	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	25977	NECAP1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6334	SCN8A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6334	SCN8A	OMIM:614558
HP:0012639	Abnormal nervous system morphology	22866	CNKSR2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	9568	GABBR2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2555	GABRA2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	55152	DALRD3	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	26999	CYFIP2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	26999	CYFIP2	OMIM:618008
HP:0012639	Abnormal nervous system morphology	4915	NTRK2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23097	CDK19	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23097	CDK19	OMIM:618916
HP:0012639	Abnormal nervous system morphology	64801	ARV1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	79947	DHDDS	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2257	FGF12	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	5826	ABCD4	OMIM:614857
HP:0012639	Abnormal nervous system morphology	54902	TTC19	OMIM:615157
HP:0012639	Abnormal nervous system morphology	51692	CPSF3	OMIM:619876
HP:0012639	Abnormal nervous system morphology	10056	FARSB	OMIM:613658
HP:0012639	Abnormal nervous system morphology	56052	ALG1	ORPHA:79327
HP:0012639	Abnormal nervous system morphology	56052	ALG1	OMIM:608540
HP:0012639	Abnormal nervous system morphology	5521	PPP2R2B	ORPHA:98762
HP:0012639	Abnormal nervous system morphology	54828	BCAS3	OMIM:619641
HP:0012639	Abnormal nervous system morphology	10531	PITRM1	OMIM:619405
HP:0012639	Abnormal nervous system morphology	256471	MFSD8	OMIM:610951
HP:0012639	Abnormal nervous system morphology	55343	SLC35C1	ORPHA:99843
HP:0012639	Abnormal nervous system morphology	55739	NAXD	OMIM:618321
HP:0012639	Abnormal nervous system morphology	339855	KY	ORPHA:496689
HP:0012639	Abnormal nervous system morphology	29960	MRM2	OMIM:618567
HP:0012639	Abnormal nervous system morphology	23219	FBXO28	OMIM:619777
HP:0012639	Abnormal nervous system morphology	23189	KANK1	OMIM:612900
HP:0012639	Abnormal nervous system morphology	6314	ATXN7	ORPHA:94147
HP:0012639	Abnormal nervous system morphology	28962	OSTM1	OMIM:259720
HP:0012639	Abnormal nervous system morphology	28962	OSTM1	ORPHA:85179
HP:0012639	Abnormal nervous system morphology	26100	WIPI2	OMIM:618453
HP:0012639	Abnormal nervous system morphology	10533	ATG7	OMIM:619422
HP:0012639	Abnormal nervous system morphology	51693	TRAPPC2L	OMIM:618331
HP:0012639	Abnormal nervous system morphology	57017	COQ9	OMIM:614654
HP:0012639	Abnormal nervous system morphology	22907	DHX30	OMIM:617804
HP:0012639	Abnormal nervous system morphology	8260	NAA10	ORPHA:276432
HP:0012639	Abnormal nervous system morphology	8260	NAA10	OMIM:300855
HP:0012639	Abnormal nervous system morphology	9759	HDAC4	OMIM:619797
HP:0012639	Abnormal nervous system morphology	23516	SLC39A14	OMIM:617013
HP:0012639	Abnormal nervous system morphology	23516	SLC39A14	ORPHA:521406
HP:0012639	Abnormal nervous system morphology	7167	TPI1	OMIM:615512
HP:0012639	Abnormal nervous system morphology	132	ADK	OMIM:614300
HP:0012639	Abnormal nervous system morphology	53616	ADAM22	OMIM:617933
HP:0012639	Abnormal nervous system morphology	9526	MPDU1	OMIM:609180
HP:0012639	Abnormal nervous system morphology	546	ATRX	OMIM:301040
HP:0012639	Abnormal nervous system morphology	9150	CTDP1	OMIM:604168
HP:0012639	Abnormal nervous system morphology	57520	HECW2	OMIM:617268
HP:0012639	Abnormal nervous system morphology	1806	DPYD	OMIM:274270
HP:0012639	Abnormal nervous system morphology	1806	DPYD	ORPHA:1675
HP:0012639	Abnormal nervous system morphology	112939	NACC1	ORPHA:500545
HP:0012639	Abnormal nervous system morphology	112939	NACC1	OMIM:617393
HP:0012639	Abnormal nervous system morphology	51010	EXOSC3	OMIM:614678
HP:0012639	Abnormal nervous system morphology	54822	TRPM7	OMIM:105500
HP:0012639	Abnormal nervous system morphology	2891	GRIA2	OMIM:618917
HP:0012639	Abnormal nervous system morphology	5934	RBL2	OMIM:619690
HP:0012639	Abnormal nervous system morphology	79709	COLGALT1	OMIM:618360
HP:0012639	Abnormal nervous system morphology	55906	ZC4H2	OMIM:314580
HP:0012639	Abnormal nervous system morphology	23732	FRRS1L	OMIM:616981
HP:0012639	Abnormal nervous system morphology	79641	ROGDI	OMIM:226750
HP:0012639	Abnormal nervous system morphology	6601	SMARCC2	OMIM:618362
HP:0012639	Abnormal nervous system morphology	29940	DSE	OMIM:615539
HP:0012639	Abnormal nervous system morphology	549	AUH	OMIM:250950
HP:0012639	Abnormal nervous system morphology	6821	SUOX	OMIM:272300
HP:0012639	Abnormal nervous system morphology	5422	POLA1	OMIM:301030
HP:0012639	Abnormal nervous system morphology	84896	ATAD1	OMIM:618011
HP:0012639	Abnormal nervous system morphology	175	AGA	OMIM:208400
HP:0012639	Abnormal nervous system morphology	4548	MTR	OMIM:250940
HP:0012639	Abnormal nervous system morphology	2313	FLI1	ORPHA:2308
HP:0012639	Abnormal nervous system morphology	8943	AP3D1	OMIM:617050
HP:0012639	Abnormal nervous system morphology	3975	LHX1	ORPHA:261265
HP:0012639	Abnormal nervous system morphology	6928	HNF1B	ORPHA:261265
HP:0012639	Abnormal nervous system morphology	57003	CCDC47	OMIM:618268
HP:0012639	Abnormal nervous system morphology	51095	TRNT1	OMIM:616084
HP:0012639	Abnormal nervous system morphology	11019	LIAS	OMIM:614462
HP:0012639	Abnormal nervous system morphology	145173	B3GLCT	OMIM:261540
HP:0012639	Abnormal nervous system morphology	57468	SLC12A5	OMIM:616645
HP:0012639	Abnormal nervous system morphology	2517	FUCA1	OMIM:230000
HP:0012639	Abnormal nervous system morphology	23040	MYT1L	OMIM:616521
HP:0012639	Abnormal nervous system morphology	3704	ITPA	OMIM:616647
HP:0012639	Abnormal nervous system morphology	203228	C9orf72	OMIM:105550
HP:0012639	Abnormal nervous system morphology	2760	GM2A	ORPHA:309246
HP:0012639	Abnormal nervous system morphology	2760	GM2A	OMIM:272750
HP:0012639	Abnormal nervous system morphology	51715	RAB23	OMIM:201000
HP:0012639	Abnormal nervous system morphology	91875	TTC5	OMIM:619244
HP:0012639	Abnormal nervous system morphology	617	BCS1L	OMIM:124000
HP:0012639	Abnormal nervous system morphology	10084	PQBP1	OMIM:309500
HP:0012639	Abnormal nervous system morphology	54802	TRIT1	OMIM:617873
HP:0012639	Abnormal nervous system morphology	26503	SLC17A5	OMIM:269920
HP:0012639	Abnormal nervous system morphology	10274	STAG1	OMIM:617635
HP:0012639	Abnormal nervous system morphology	1719	DHFR	OMIM:613839
HP:0012639	Abnormal nervous system morphology	3778	KCNMA1	OMIM:618729
HP:0012639	Abnormal nervous system morphology	22868	FASTKD2	OMIM:618855
HP:0012639	Abnormal nervous system morphology	114034	TOE1	ORPHA:284339
HP:0012639	Abnormal nervous system morphology	9562	MINPP1	ORPHA:284339
HP:0012639	Abnormal nervous system morphology	57338	JPH3	ORPHA:98934
HP:0012639	Abnormal nervous system morphology	10195	ALG3	ORPHA:79321
HP:0012639	Abnormal nervous system morphology	2138	EYA1	OMIM:113650
HP:0012639	Abnormal nervous system morphology	6495	SIX1	OMIM:113650
HP:0012639	Abnormal nervous system morphology	9217	VAPB	OMIM:608627
HP:0012639	Abnormal nervous system morphology	3748	KCNC3	OMIM:605259
HP:0012639	Abnormal nervous system morphology	25814	ATXN10	OMIM:603516
HP:0012639	Abnormal nervous system morphology	80169	CTC1	OMIM:612199
HP:0012639	Abnormal nervous system morphology	8575	PRKRA	OMIM:612067
HP:0012639	Abnormal nervous system morphology	6531	SLC6A3	OMIM:613135
HP:0012639	Abnormal nervous system morphology	1807	DPYS	OMIM:222748
HP:0012639	Abnormal nervous system morphology	79944	L2HGDH	OMIM:236792
HP:0012639	Abnormal nervous system morphology	8139	GAN	OMIM:256850
HP:0012639	Abnormal nervous system morphology	5538	PPT1	OMIM:256730
HP:0012639	Abnormal nervous system morphology	1203	CLN5	OMIM:256731
HP:0012639	Abnormal nervous system morphology	1201	CLN3	OMIM:204200
HP:0012639	Abnormal nervous system morphology	2055	CLN8	OMIM:600143
HP:0012639	Abnormal nervous system morphology	2055	CLN8	OMIM:610003
HP:0012639	Abnormal nervous system morphology	54982	CLN6	OMIM:204300
HP:0012639	Abnormal nervous system morphology	54982	CLN6	OMIM:601780
HP:0012639	Abnormal nervous system morphology	1200	TPP1	OMIM:204500
HP:0012639	Abnormal nervous system morphology	80331	DNAJC5	OMIM:162350
HP:0012639	Abnormal nervous system morphology	2137	EXTL3	ORPHA:508533
HP:0012639	Abnormal nervous system morphology	7528	YY1	ORPHA:506358
HP:0012639	Abnormal nervous system morphology	8036	SHOC2	OMIM:607721
HP:0012639	Abnormal nervous system morphology	23394	ADNP	ORPHA:404448
HP:0012639	Abnormal nervous system morphology	10617	STAMBP	OMIM:614261
HP:0012639	Abnormal nervous system morphology	26235	FBXL4	OMIM:615471
HP:0012639	Abnormal nervous system morphology	104	ADARB1	OMIM:618862
HP:0012639	Abnormal nervous system morphology	9853	RUSC2	OMIM:617773
HP:0012639	Abnormal nervous system morphology	2775	GNAO1	OMIM:615473
HP:0012639	Abnormal nervous system morphology	2775	GNAO1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2775	GNAO1	OMIM:617493
HP:0012639	Abnormal nervous system morphology	6873	TAF2	OMIM:615599
HP:0012639	Abnormal nervous system morphology	6873	TAF2	ORPHA:397951
HP:0012639	Abnormal nervous system morphology	1947	EFNB1	ORPHA:1520
HP:0012639	Abnormal nervous system morphology	1947	EFNB1	OMIM:304110
HP:0012639	Abnormal nervous system morphology	7360	UGP2	OMIM:618744
HP:0012639	Abnormal nervous system morphology	81857	MED25	OMIM:616449
HP:0012639	Abnormal nervous system morphology	81857	MED25	ORPHA:464738
HP:0012639	Abnormal nervous system morphology	10159	ATP6AP2	ORPHA:93952
HP:0012639	Abnormal nervous system morphology	10159	ATP6AP2	OMIM:300423
HP:0012639	Abnormal nervous system morphology	116931	MED12L	OMIM:618872
HP:0012639	Abnormal nervous system morphology	80816	ASXL3	OMIM:615485
HP:0012639	Abnormal nervous system morphology	6536	SLC6A9	OMIM:617301
HP:0012639	Abnormal nervous system morphology	51741	WWOX	OMIM:616211
HP:0012639	Abnormal nervous system morphology	27245	AHDC1	ORPHA:412069
HP:0012639	Abnormal nervous system morphology	27245	AHDC1	OMIM:615829
HP:0012639	Abnormal nervous system morphology	166378	AFG2A	OMIM:616577
HP:0012639	Abnormal nervous system morphology	375387	NRROS	OMIM:618875
HP:0012639	Abnormal nervous system morphology	5610	EIF2AK2	OMIM:618877
HP:0012639	Abnormal nervous system morphology	83696	TRAPPC9	OMIM:613192
HP:0012639	Abnormal nervous system morphology	83696	TRAPPC9	ORPHA:352530
HP:0012639	Abnormal nervous system morphology	7343	UBTF	OMIM:617672
HP:0012639	Abnormal nervous system morphology	7343	UBTF	ORPHA:500180
HP:0012639	Abnormal nervous system morphology	6844	VAMP2	OMIM:618760
HP:0012639	Abnormal nervous system morphology	1183	CLCN4	ORPHA:485350
HP:0012639	Abnormal nervous system morphology	1183	CLCN4	OMIM:300114
HP:0012639	Abnormal nervous system morphology	6872	TAF1	ORPHA:480907
HP:0012639	Abnormal nervous system morphology	6872	TAF1	OMIM:300966
HP:0012639	Abnormal nervous system morphology	171023	ASXL1	ORPHA:97297
HP:0012639	Abnormal nervous system morphology	171023	ASXL1	OMIM:605039
HP:0012639	Abnormal nervous system morphology	1656	DDX6	OMIM:618653
HP:0012639	Abnormal nervous system morphology	25930	PTPN23	OMIM:618890
HP:0012639	Abnormal nervous system morphology	23327	NEDD4L	OMIM:617201
HP:0012639	Abnormal nervous system morphology	833	CARS1	OMIM:618891
HP:0012639	Abnormal nervous system morphology	2903	GRIN2A	ORPHA:289266
HP:0012639	Abnormal nervous system morphology	2903	GRIN2A	ORPHA:163721
HP:0012639	Abnormal nervous system morphology	54872	PIGG	ORPHA:488635
HP:0012639	Abnormal nervous system morphology	54872	PIGG	OMIM:616917
HP:0012639	Abnormal nervous system morphology	57178	ZMIZ1	OMIM:618659
HP:0012639	Abnormal nervous system morphology	8550	MAPKAPK5	OMIM:619869
HP:0012639	Abnormal nervous system morphology	93627	TBCK	ORPHA:488632
HP:0012639	Abnormal nervous system morphology	93627	TBCK	OMIM:616900
HP:0012639	Abnormal nervous system morphology	6905	TBCE	OMIM:617207
HP:0012639	Abnormal nervous system morphology	6905	TBCE	OMIM:241410
HP:0012639	Abnormal nervous system morphology	6905	TBCE	ORPHA:496756
HP:0012639	Abnormal nervous system morphology	8642	DCHS1	OMIM:601390
HP:0012639	Abnormal nervous system morphology	8642	DCHS1	ORPHA:314679
HP:0012639	Abnormal nervous system morphology	26040	SETBP1	OMIM:269150
HP:0012639	Abnormal nervous system morphology	26040	SETBP1	ORPHA:798
HP:0012639	Abnormal nervous system morphology	5518	PPP2R1A	OMIM:616362
HP:0012639	Abnormal nervous system morphology	5518	PPP2R1A	ORPHA:457284
HP:0012639	Abnormal nervous system morphology	9895	TECPR2	OMIM:615031
HP:0012639	Abnormal nervous system morphology	9895	TECPR2	ORPHA:320385
HP:0012639	Abnormal nervous system morphology	10717	AP4B1	OMIM:614066
HP:0012639	Abnormal nervous system morphology	10717	AP4B1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	84879	MFSD2A	OMIM:616486
HP:0012639	Abnormal nervous system morphology	84504	NKX6-2	ORPHA:527497
HP:0012639	Abnormal nervous system morphology	23126	POGZ	OMIM:616364
HP:0012639	Abnormal nervous system morphology	23126	POGZ	ORPHA:468678
HP:0012639	Abnormal nervous system morphology	55773	TBC1D23	OMIM:617695
HP:0012639	Abnormal nervous system morphology	8558	CDK10	OMIM:617694
HP:0012639	Abnormal nervous system morphology	51633	OTUD6B	OMIM:617452
HP:0012639	Abnormal nervous system morphology	7531	YWHAE	ORPHA:217385
HP:0012639	Abnormal nervous system morphology	7531	YWHAE	ORPHA:531
HP:0012639	Abnormal nervous system morphology	3098	HK1	OMIM:618547
HP:0012639	Abnormal nervous system morphology	26137	ZBTB20	OMIM:259050
HP:0012639	Abnormal nervous system morphology	1615	DARS1	OMIM:615281
HP:0012639	Abnormal nervous system morphology	3800	KIF5C	OMIM:615282
HP:0012639	Abnormal nervous system morphology	253959	RALGAPA1	OMIM:618797
HP:0012639	Abnormal nervous system morphology	2232	FDXR	ORPHA:543470
HP:0012639	Abnormal nervous system morphology	51098	IFT52	OMIM:617102
HP:0012639	Abnormal nervous system morphology	4849	CNOT3	OMIM:618672
HP:0012639	Abnormal nervous system morphology	6506	SLC1A2	OMIM:617105
HP:0012639	Abnormal nervous system morphology	10297	APC2	OMIM:618677
HP:0012639	Abnormal nervous system morphology	25973	PARS2	OMIM:618437
HP:0012639	Abnormal nervous system morphology	2558	GABRA5	OMIM:618559
HP:0012639	Abnormal nervous system morphology	79633	FAT4	ORPHA:314679
HP:0012639	Abnormal nervous system morphology	79633	FAT4	OMIM:615546
HP:0012639	Abnormal nervous system morphology	7841	MOGS	ORPHA:79330
HP:0012639	Abnormal nervous system morphology	7841	MOGS	OMIM:606056
HP:0012639	Abnormal nervous system morphology	4208	MEF2C	ORPHA:228384
HP:0012639	Abnormal nervous system morphology	23162	MAPK8IP3	OMIM:618443
HP:0012639	Abnormal nervous system morphology	3798	KIF5A	OMIM:617235
HP:0012639	Abnormal nervous system morphology	8565	YARS1	OMIM:619418
HP:0012639	Abnormal nervous system morphology	51227	PIGP	OMIM:617599
HP:0012639	Abnormal nervous system morphology	51227	PIGP	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	374969	SVBP	OMIM:618569
HP:0012639	Abnormal nervous system morphology	51062	ATL1	OMIM:182600
HP:0012639	Abnormal nervous system morphology	79053	ALG8	ORPHA:79325
HP:0012639	Abnormal nervous system morphology	9896	FIG4	OMIM:216340
HP:0012639	Abnormal nervous system morphology	8295	TRRAP	OMIM:618454
HP:0012639	Abnormal nervous system morphology	7040	TGFB1	OMIM:618213
HP:0012639	Abnormal nervous system morphology	58497	PRUNE1	OMIM:617481
HP:0012639	Abnormal nervous system morphology	5881	RAC3	OMIM:618577
HP:0012639	Abnormal nervous system morphology	51013	EXOSC1	OMIM:619304
HP:0012639	Abnormal nervous system morphology	55770	EXOC2	OMIM:619306
HP:0012639	Abnormal nervous system morphology	6792	CDKL5	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	3736	KCNA1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	9091	PIGQ	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	81603	TRIM8	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	79751	SLC25A22	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	150094	SIK1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	8573	CASK	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	23312	DMXL2	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2917	GRM7	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2917	GRM7	OMIM:618922
HP:0012639	Abnormal nervous system morphology	170302	ARX	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	11284	PNKP	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	11284	PNKP	OMIM:613402
HP:0012639	Abnormal nervous system morphology	4761	NEUROD2	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	4761	NEUROD2	OMIM:618374
HP:0012639	Abnormal nervous system morphology	9488	PIGB	OMIM:618580
HP:0012639	Abnormal nervous system morphology	84706	GPT2	OMIM:616281
HP:0012639	Abnormal nervous system morphology	84706	GPT2	ORPHA:477673
HP:0012639	Abnormal nervous system morphology	79876	UBA5	OMIM:617132
HP:0012639	Abnormal nervous system morphology	2187	FANCB	OMIM:300514
HP:0012639	Abnormal nervous system morphology	10765	KDM5B	OMIM:618109
HP:0012639	Abnormal nervous system morphology	10564	ARFGEF2	OMIM:608097
HP:0012639	Abnormal nervous system morphology	51412	ACTL6B	OMIM:618468
HP:0012639	Abnormal nervous system morphology	51412	ACTL6B	OMIM:618470
HP:0012639	Abnormal nervous system morphology	2671	GFER	ORPHA:330054
HP:0012639	Abnormal nervous system morphology	11160	ERLIN2	ORPHA:209951
HP:0012639	Abnormal nervous system morphology	11160	ERLIN2	OMIM:611225
HP:0012639	Abnormal nervous system morphology	56945	MRPS22	OMIM:611719
HP:0012639	Abnormal nervous system morphology	128869	PIGU	OMIM:618590
HP:0012639	Abnormal nervous system morphology	5631	PRPS1	ORPHA:423479
HP:0012639	Abnormal nervous system morphology	7707	ZNF148	OMIM:617260
HP:0012639	Abnormal nervous system morphology	1349	COX7B	OMIM:300887
HP:0012639	Abnormal nervous system morphology	5515	PPP2CA	OMIM:618354
HP:0012639	Abnormal nervous system morphology	55610	VPS50	OMIM:619685
HP:0012639	Abnormal nervous system morphology	55262	TRAPPC14	OMIM:618351
HP:0012639	Abnormal nervous system morphology	1654	DDX3X	ORPHA:457260
HP:0012639	Abnormal nervous system morphology	1654	DDX3X	OMIM:300958
HP:0012639	Abnormal nervous system morphology	26128	KIFBP	ORPHA:66629
HP:0012639	Abnormal nervous system morphology	26128	KIFBP	OMIM:609460
HP:0012639	Abnormal nervous system morphology	154881	KCTD7	OMIM:611726
HP:0012639	Abnormal nervous system morphology	9179	AP4M1	OMIM:612936
HP:0012639	Abnormal nervous system morphology	9179	AP4M1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	4784	NFIX	OMIM:602535
HP:0012639	Abnormal nervous system morphology	4784	NFIX	ORPHA:420179
HP:0012639	Abnormal nervous system morphology	4784	NFIX	OMIM:614753
HP:0012639	Abnormal nervous system morphology	22796	COG2	OMIM:617395
HP:0012639	Abnormal nervous system morphology	22796	COG2	ORPHA:435934
HP:0012639	Abnormal nervous system morphology	2560	GABRB1	OMIM:617153
HP:0012639	Abnormal nervous system morphology	23221	RHOBTB2	OMIM:618004
HP:0012639	Abnormal nervous system morphology	8120	AP3B2	OMIM:617276
HP:0012639	Abnormal nervous system morphology	7965	AIMP2	OMIM:618006
HP:0012639	Abnormal nervous system morphology	7703	PCGF2	OMIM:618371
HP:0012639	Abnormal nervous system morphology	1781	DYNC1I2	OMIM:618492
HP:0012639	Abnormal nervous system morphology	29968	PSAT1	ORPHA:284417
HP:0012639	Abnormal nervous system morphology	191	AHCY	ORPHA:88618
HP:0012639	Abnormal nervous system morphology	51324	SPG21	ORPHA:101001
HP:0012639	Abnormal nervous system morphology	7161	TP73	OMIM:619466
HP:0012639	Abnormal nervous system morphology	11342	RNF13	OMIM:618379
HP:0012639	Abnormal nervous system morphology	11342	RNF13	ORPHA:544503
HP:0012639	Abnormal nervous system morphology	9758	FRMPD4	OMIM:300983
HP:0012639	Abnormal nervous system morphology	5277	PIGA	OMIM:300868
HP:0012639	Abnormal nervous system morphology	1822	ATN1	OMIM:618494
HP:0012639	Abnormal nervous system morphology	523	ATP6V1A	OMIM:618012
HP:0012639	Abnormal nervous system morphology	523	ATP6V1A	OMIM:617403
HP:0012639	Abnormal nervous system morphology	8883	NAE1	OMIM:620210
HP:0012639	Abnormal nervous system morphology	80185	TTI2	ORPHA:391307
HP:0012639	Abnormal nervous system morphology	50801	KCNK4	OMIM:618381
HP:0012639	Abnormal nervous system morphology	11340	EXOSC8	OMIM:616081
HP:0012639	Abnormal nervous system morphology	84265	POLR3GL	OMIM:619234
HP:0012639	Abnormal nervous system morphology	2892	GRIA3	ORPHA:364028
HP:0012639	Abnormal nervous system morphology	348180	CTU2	OMIM:618142
HP:0012639	Abnormal nervous system morphology	2571	GAD1	OMIM:619124
HP:0012639	Abnormal nervous system morphology	2222	FDFT1	OMIM:618156
HP:0012639	Abnormal nervous system morphology	285590	SH3PXD2B	OMIM:249420
HP:0012639	Abnormal nervous system morphology	90522	YIF1B	OMIM:619125
HP:0012639	Abnormal nervous system morphology	374354	NHLRC2	OMIM:618278
HP:0012639	Abnormal nervous system morphology	8239	USP9X	OMIM:300968
HP:0012639	Abnormal nervous system morphology	8239	USP9X	ORPHA:480880
HP:0012639	Abnormal nervous system morphology	9326	ZNHIT3	OMIM:260565
HP:0012639	Abnormal nervous system morphology	29123	ANKRD11	ORPHA:261250
HP:0012639	Abnormal nervous system morphology	118924	FRA10AC1	OMIM:620113
HP:0012639	Abnormal nervous system morphology	8911	CACNA1I	OMIM:620114
HP:0012639	Abnormal nervous system morphology	93587	TRMT10A	ORPHA:391408
HP:0012639	Abnormal nervous system morphology	84919	PPP1R15B	ORPHA:391408
HP:0012639	Abnormal nervous system morphology	84919	PPP1R15B	OMIM:616817
HP:0012639	Abnormal nervous system morphology	3090	HIC1	ORPHA:531
HP:0012639	Abnormal nervous system morphology	6748	SSR4	ORPHA:370927
HP:0012639	Abnormal nervous system morphology	6748	SSR4	OMIM:300934
HP:0012639	Abnormal nervous system morphology	2177	FANCD2	OMIM:227646
HP:0012639	Abnormal nervous system morphology	340533	NEXMIF	ORPHA:85277
HP:0012639	Abnormal nervous system morphology	89970	RSPRY1	ORPHA:457395
HP:0012639	Abnormal nervous system morphology	124454	EARS2	OMIM:614924
HP:0012639	Abnormal nervous system morphology	10079	ATP9A	OMIM:620242
HP:0012639	Abnormal nervous system morphology	129285	PPP1R21	OMIM:619383
HP:0012639	Abnormal nervous system morphology	221927	BRAT1	OMIM:618056
HP:0012639	Abnormal nervous system morphology	3480	IGF1R	OMIM:270450
HP:0012639	Abnormal nervous system morphology	6095	RORA	OMIM:618060
HP:0012639	Abnormal nervous system morphology	11113	CIT	OMIM:617090
HP:0012639	Abnormal nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0012639	Abnormal nervous system morphology	7355	SLC35A2	ORPHA:356961
HP:0012639	Abnormal nervous system morphology	7355	SLC35A2	OMIM:300896
HP:0012639	Abnormal nervous system morphology	347734	SLC35B2	OMIM:620269
HP:0012639	Abnormal nervous system morphology	781	CACNA2D1	OMIM:620149
HP:0012639	Abnormal nervous system morphology	132158	GLYCTK	ORPHA:941
HP:0012639	Abnormal nervous system morphology	57176	VARS2	OMIM:615917
HP:0012639	Abnormal nervous system morphology	89910	UBE3B	OMIM:244450
HP:0012639	Abnormal nervous system morphology	9915	ARNT2	OMIM:615926
HP:0012639	Abnormal nervous system morphology	57582	KCNT1	OMIM:614959
HP:0012639	Abnormal nervous system morphology	271	AMPD2	OMIM:615809
HP:0012639	Abnormal nervous system morphology	271	AMPD2	OMIM:615686
HP:0012639	Abnormal nervous system morphology	57492	ARID1B	OMIM:135900
HP:0012639	Abnormal nervous system morphology	501	ALDH7A1	ORPHA:3006
HP:0012639	Abnormal nervous system morphology	11212	PLPBP	ORPHA:3006
HP:0012639	Abnormal nervous system morphology	57531	HACE1	ORPHA:464282
HP:0012639	Abnormal nervous system morphology	57531	HACE1	OMIM:616756
HP:0012639	Abnormal nervous system morphology	80856	LNPK	OMIM:618090
HP:0012639	Abnormal nervous system morphology	4338	MOCS2	OMIM:252160
HP:0012639	Abnormal nervous system morphology	2752	GLUL	OMIM:610015
HP:0012639	Abnormal nervous system morphology	9907	AP5Z1	OMIM:613647
HP:0012639	Abnormal nervous system morphology	9907	AP5Z1	ORPHA:306511
HP:0012639	Abnormal nervous system morphology	54496	PRMT7	ORPHA:464288
HP:0012639	Abnormal nervous system morphology	23265	EXOC7	OMIM:619072
HP:0012639	Abnormal nervous system morphology	9653	HS2ST1	OMIM:619194
HP:0012639	Abnormal nervous system morphology	1798	DPAGT1	ORPHA:86309
HP:0012639	Abnormal nervous system morphology	1267	CNP	OMIM:619071
HP:0012639	Abnormal nervous system morphology	149371	EXOC8	OMIM:619076
HP:0012639	Abnormal nervous system morphology	57498	KIDINS220	ORPHA:521390
HP:0012639	Abnormal nervous system morphology	56006	SMG9	OMIM:616920
HP:0012639	Abnormal nervous system morphology	285175	UNC80	OMIM:616801
HP:0012639	Abnormal nervous system morphology	285175	UNC80	ORPHA:371364
HP:0012639	Abnormal nervous system morphology	79753	SNIP1	OMIM:614501
HP:0012639	Abnormal nervous system morphology	54499	TMCO1	OMIM:213980
HP:0012639	Abnormal nervous system morphology	54499	TMCO1	ORPHA:1394
HP:0012639	Abnormal nervous system morphology	11128	POLR3A	ORPHA:447896
HP:0012639	Abnormal nervous system morphology	11128	POLR3A	OMIM:607694
HP:0012639	Abnormal nervous system morphology	10236	HNRNPR	OMIM:620073
HP:0012639	Abnormal nervous system morphology	23503	ZFYVE26	OMIM:270700
HP:0012639	Abnormal nervous system morphology	23503	ZFYVE26	ORPHA:100996
HP:0012639	Abnormal nervous system morphology	58508	KMT2C	ORPHA:261652
HP:0012639	Abnormal nervous system morphology	4094	MAF	ORPHA:1272
HP:0012639	Abnormal nervous system morphology	5591	PRKDC	OMIM:615966
HP:0012639	Abnormal nervous system morphology	51244	CCDC174	OMIM:616816
HP:0012639	Abnormal nervous system morphology	55275	VPS53	OMIM:615851
HP:0012639	Abnormal nervous system morphology	57704	GBA2	OMIM:614409
HP:0012639	Abnormal nervous system morphology	200403	VWA3B	OMIM:616948
HP:0012639	Abnormal nervous system morphology	85021	REPS1	OMIM:617916
HP:0012639	Abnormal nervous system morphology	85440	DOCK7	OMIM:615859
HP:0012639	Abnormal nervous system morphology	85440	DOCK7	ORPHA:411986
HP:0012639	Abnormal nervous system morphology	9276	COPB2	OMIM:617800
HP:0012639	Abnormal nervous system morphology	7407	VARS1	OMIM:617802
HP:0012639	Abnormal nervous system morphology	7490	WT1	OMIM:106210
HP:0012639	Abnormal nervous system morphology	5080	PAX6	OMIM:106210
HP:0012639	Abnormal nervous system morphology	10075	HUWE1	OMIM:309590
HP:0012639	Abnormal nervous system morphology	91949	COG7	OMIM:608779
HP:0012639	Abnormal nervous system morphology	2290	FOXG1	OMIM:613454
HP:0012639	Abnormal nervous system morphology	6328	SCN3A	OMIM:617938
HP:0012639	Abnormal nervous system morphology	6658	SOX3	ORPHA:67045
HP:0012639	Abnormal nervous system morphology	79587	CARS2	ORPHA:477774
HP:0012639	Abnormal nervous system morphology	79587	CARS2	OMIM:616672
HP:0012639	Abnormal nervous system morphology	23291	FBXW11	OMIM:618914
HP:0012639	Abnormal nervous system morphology	998	CDC42	OMIM:616737
HP:0012639	Abnormal nervous system morphology	998	CDC42	ORPHA:487796
HP:0012639	Abnormal nervous system morphology	50	ACO2	OMIM:614559
HP:0012639	Abnormal nervous system morphology	3097	HIVEP2	OMIM:616977
HP:0012639	Abnormal nervous system morphology	10982	MAPRE2	OMIM:616734
HP:0012639	Abnormal nervous system morphology	5053	PAH	ORPHA:2209
HP:0012639	Abnormal nervous system morphology	4131	MAP1B	OMIM:618918
HP:0012639	Abnormal nervous system morphology	23511	NUP188	OMIM:618804
HP:0012639	Abnormal nervous system morphology	2058	EPRS1	OMIM:617951
HP:0012639	Abnormal nervous system morphology	57511	COG6	OMIM:614576
HP:0012639	Abnormal nervous system morphology	23065	EMC1	OMIM:616875
HP:0012639	Abnormal nervous system morphology	128637	TBC1D20	OMIM:615663
HP:0012639	Abnormal nervous system morphology	1729	DIAPH1	OMIM:616632
HP:0012639	Abnormal nervous system morphology	9419	CRIPT	OMIM:615789
HP:0012639	Abnormal nervous system morphology	7874	USP7	ORPHA:500055
HP:0012639	Abnormal nervous system morphology	340075	ARSI	ORPHA:401815
HP:0012639	Abnormal nervous system morphology	22931	RAB18	OMIM:614222
HP:0012639	Abnormal nervous system morphology	4337	MOCS1	OMIM:252150
HP:0012639	Abnormal nervous system morphology	29957	SLC25A24	OMIM:612289
HP:0012639	Abnormal nervous system morphology	4329	ALDH6A1	OMIM:614105
HP:0012639	Abnormal nervous system morphology	259232	NALCN	ORPHA:371364
HP:0012639	Abnormal nervous system morphology	23556	PIGN	ORPHA:280633
HP:0012639	Abnormal nervous system morphology	54880	BCOR	OMIM:300166
HP:0012639	Abnormal nervous system morphology	5162	PDHB	ORPHA:255138
HP:0012639	Abnormal nervous system morphology	122553	TRAPPC6B	OMIM:617862
HP:0012639	Abnormal nervous system morphology	51124	IER3IP1	OMIM:614231
HP:0012639	Abnormal nervous system morphology	2893	GRIA4	OMIM:617864
HP:0012639	Abnormal nervous system morphology	55704	CCDC88A	OMIM:617507
HP:0012639	Abnormal nervous system morphology	11154	AP4S1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	23431	AP4E1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	4841	NONO	ORPHA:466791
HP:0012639	Abnormal nervous system morphology	4047	LSS	OMIM:618840
HP:0012639	Abnormal nervous system morphology	5879	RAC1	OMIM:617751
HP:0012639	Abnormal nervous system morphology	5879	RAC1	ORPHA:500159
HP:0012639	Abnormal nervous system morphology	440	ASNS	OMIM:615574
HP:0012639	Abnormal nervous system morphology	738	VPS51	OMIM:618606
HP:0012639	Abnormal nervous system morphology	5116	PCNT	ORPHA:2637
HP:0012639	Abnormal nervous system morphology	2806	GOT2	OMIM:618721
HP:0012639	Abnormal nervous system morphology	51663	ZFR	ORPHA:401840
HP:0012639	Abnormal nervous system morphology	1468	SLC25A10	OMIM:618972
HP:0012639	Abnormal nervous system morphology	1968	EIF2S3	OMIM:300148
HP:0012639	Abnormal nervous system morphology	5307	PITX1	OMIM:119800
HP:0012639	Abnormal nervous system morphology	51075	TMX2	OMIM:618730
HP:0012639	Abnormal nervous system morphology	8884	SLC5A6	OMIM:618973
HP:0012639	Abnormal nervous system morphology	7305	TYROBP	OMIM:221770
HP:0012639	Abnormal nervous system morphology	55331	ACER3	OMIM:617762
HP:0012639	Abnormal nervous system morphology	22978	NT5C2	OMIM:613162
HP:0012639	Abnormal nervous system morphology	10844	TUBGCP2	OMIM:618737
HP:0012639	Abnormal nervous system morphology	4858	NOVA2	OMIM:618859
HP:0012639	Abnormal nervous system morphology	84148	KAT8	OMIM:618974
HP:0012639	Abnormal nervous system morphology	55753	OGDHL	OMIM:619701
HP:0012639	Abnormal nervous system morphology	58499	ZNF462	OMIM:618619
HP:0012639	Abnormal nervous system morphology	57514	ARHGAP31	OMIM:100300
HP:0012639	Abnormal nervous system morphology	57514	ARHGAP31	ORPHA:974
HP:0012639	Abnormal nervous system morphology	84172	POLR1B	ORPHA:861
HP:0012639	Abnormal nervous system morphology	9533	POLR1C	ORPHA:861
HP:0012639	Abnormal nervous system morphology	51082	POLR1D	ORPHA:861
HP:0012639	Abnormal nervous system morphology	6949	TCOF1	ORPHA:861
HP:0012639	Abnormal nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0012639	Abnormal nervous system morphology	3516	RBPJ	ORPHA:974
HP:0012639	Abnormal nervous system morphology	4851	NOTCH1	ORPHA:974
HP:0012639	Abnormal nervous system morphology	57572	DOCK6	ORPHA:974
HP:0012639	Abnormal nervous system morphology	285203	EOGT	ORPHA:974
HP:0012639	Abnormal nervous system morphology	54567	DLL4	ORPHA:974
HP:0012639	Abnormal nervous system morphology	2317	FLNB	OMIM:108720
HP:0012639	Abnormal nervous system morphology	3912	LAMB1	OMIM:615191
HP:0012639	Abnormal nervous system morphology	3912	LAMB1	ORPHA:352682
HP:0012639	Abnormal nervous system morphology	3339	HSPG2	OMIM:224410
HP:0012639	Abnormal nervous system morphology	10992	SF3B2	OMIM:164210
HP:0012639	Abnormal nervous system morphology	3239	HOXD13	ORPHA:887
HP:0012639	Abnormal nervous system morphology	56603	CYP26B1	OMIM:614416
HP:0012639	Abnormal nervous system morphology	5062	PAK2	ORPHA:1571
HP:0012639	Abnormal nervous system morphology	51111	KMT5B	OMIM:617788
HP:0012639	Abnormal nervous system morphology	113189	CHST14	ORPHA:2953
HP:0012639	Abnormal nervous system morphology	113189	CHST14	OMIM:601776
HP:0012639	Abnormal nervous system morphology	3340	NDST1	OMIM:616116
HP:0012639	Abnormal nervous system morphology	2203	FBP1	ORPHA:348
HP:0012639	Abnormal nervous system morphology	10102	TSFM	OMIM:610505
HP:0012639	Abnormal nervous system morphology	650	BMP2	ORPHA:261295
HP:0012639	Abnormal nervous system morphology	23729	SHPK	ORPHA:440713
HP:0012639	Abnormal nervous system morphology	4952	OCRL	ORPHA:534
HP:0012639	Abnormal nervous system morphology	4952	OCRL	OMIM:309000
HP:0012639	Abnormal nervous system morphology	1108	CHD4	OMIM:617159
HP:0012639	Abnormal nervous system morphology	633	BGN	OMIM:300989
HP:0012639	Abnormal nervous system morphology	57538	ALPK3	OMIM:618052
HP:0012639	Abnormal nervous system morphology	9570	GOSR2	OMIM:620166
HP:0012639	Abnormal nervous system morphology	4591	TRIM37	OMIM:253250
HP:0012639	Abnormal nervous system morphology	23483	TGDS	ORPHA:1388
HP:0012639	Abnormal nervous system morphology	27152	INTU	OMIM:617926
HP:0012639	Abnormal nervous system morphology	11133	KPTN	OMIM:615637
HP:0012639	Abnormal nervous system morphology	57674	RNF213	ORPHA:2573
HP:0012639	Abnormal nervous system morphology	50943	FOXP3	OMIM:304790
HP:0012639	Abnormal nervous system morphology	10943	MSL3	OMIM:301032
HP:0012639	Abnormal nervous system morphology	8985	PLOD3	OMIM:612394
HP:0012639	Abnormal nervous system morphology	8936	WASF1	OMIM:618707
HP:0012639	Abnormal nervous system morphology	3852	KRT5	ORPHA:79396
HP:0012639	Abnormal nervous system morphology	3861	KRT14	ORPHA:79396
HP:0012639	Abnormal nervous system morphology	25792	CIZ1	ORPHA:420492
HP:0012639	Abnormal nervous system morphology	8722	CTSF	OMIM:615362
HP:0012639	Abnormal nervous system morphology	348	APOE	OMIM:607822
HP:0012639	Abnormal nervous system morphology	51761	ATP8A2	OMIM:615268
HP:0012639	Abnormal nervous system morphology	4582	MUC1	OMIM:174000
HP:0012639	Abnormal nervous system morphology	493856	CISD2	ORPHA:3463
HP:0012639	Abnormal nervous system morphology	5664	PSEN2	ORPHA:1020
HP:0012639	Abnormal nervous system morphology	10452	TOMM40	ORPHA:1020
HP:0012639	Abnormal nervous system morphology	6653	SORL1	ORPHA:1020
HP:0012639	Abnormal nervous system morphology	27249	MMADHC	OMIM:277410
HP:0012639	Abnormal nervous system morphology	55630	SLC39A4	ORPHA:37
HP:0012639	Abnormal nervous system morphology	54834	GDAP2	OMIM:618369
HP:0012639	Abnormal nervous system morphology	7399	USH2A	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	79955	PDZD7	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	4647	MYO7A	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	4647	MYO7A	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	25861	WHRN	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	60558	GUF1	OMIM:617065
HP:0012639	Abnormal nervous system morphology	777	CACNA1E	OMIM:618285
HP:0012639	Abnormal nervous system morphology	10083	USH1C	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	124590	USH1G	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	83715	ESPN	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	10518	CIB2	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	65217	PCDH15	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	93986	FOXP2	OMIM:602081
HP:0012639	Abnormal nervous system morphology	9636	ISG15	OMIM:616126
HP:0012639	Abnormal nervous system morphology	2767	GNA11	OMIM:615361
HP:0012639	Abnormal nervous system morphology	2625	GATA3	OMIM:146255
HP:0012639	Abnormal nervous system morphology	90	ACVR1	OMIM:135100
HP:0012639	Abnormal nervous system morphology	56984	PSMG2	OMIM:619183
HP:0012639	Abnormal nervous system morphology	846	CASR	OMIM:601198
HP:0012639	Abnormal nervous system morphology	113235	SLC46A1	OMIM:229050
HP:0012639	Abnormal nervous system morphology	5696	PSMB8	OMIM:256040
HP:0012639	Abnormal nervous system morphology	2159	F10	ORPHA:328
HP:0012639	Abnormal nervous system morphology	2811	GP1BA	ORPHA:853
HP:0012639	Abnormal nervous system morphology	3673	ITGA2	ORPHA:853
HP:0012639	Abnormal nervous system morphology	135228	CD109	ORPHA:853
HP:0012639	Abnormal nervous system morphology	3690	ITGB3	ORPHA:853
HP:0012639	Abnormal nervous system morphology	81031	SLC2A10	OMIM:208050
HP:0012639	Abnormal nervous system morphology	3110	MNX1	OMIM:176450
HP:0012639	Abnormal nervous system morphology	2155	F7	OMIM:227500
HP:0012639	Abnormal nervous system morphology	2155	F7	ORPHA:327
HP:0012639	Abnormal nervous system morphology	2624	GATA2	ORPHA:3226
HP:0012639	Abnormal nervous system morphology	5345	SERPINF2	ORPHA:79
HP:0012639	Abnormal nervous system morphology	249	ALPL	OMIM:241500
HP:0012639	Abnormal nervous system morphology	3998	LMAN1	ORPHA:35909
HP:0012639	Abnormal nervous system morphology	90411	MCFD2	ORPHA:35909
HP:0012639	Abnormal nervous system morphology	1584	CYP11B1	ORPHA:90795
HP:0012639	Abnormal nervous system morphology	1584	CYP11B1	ORPHA:403
HP:0012639	Abnormal nervous system morphology	1585	CYP11B2	ORPHA:403
HP:0012639	Abnormal nervous system morphology	776	CACNA1D	ORPHA:369929
HP:0012639	Abnormal nervous system morphology	3762	KCNJ5	ORPHA:251274
HP:0012639	Abnormal nervous system morphology	5251	PHEX	OMIM:307800
HP:0012639	Abnormal nervous system morphology	1836	SLC26A2	OMIM:222600
HP:0012639	Abnormal nervous system morphology	25871	NEPRO	OMIM:618853
HP:0012639	Abnormal nervous system morphology	2304	FOXE1	ORPHA:319487
HP:0012639	Abnormal nervous system morphology	3026	HABP2	ORPHA:319487
HP:0012639	Abnormal nervous system morphology	567	B2M	ORPHA:314652
HP:0012639	Abnormal nervous system morphology	8148	TAF15	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5445	PON2	ORPHA:803
HP:0012639	Abnormal nervous system morphology	55830	GLT8D1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	755	CFAP410	ORPHA:803
HP:0012639	Abnormal nervous system morphology	10891	PPARGC1A	ORPHA:803
HP:0012639	Abnormal nervous system morphology	10133	OPTN	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5444	PON1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5446	PON3	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5216	PFN1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	283	ANG	ORPHA:803
HP:0012639	Abnormal nervous system morphology	2043	EPHA4	ORPHA:803
HP:0012639	Abnormal nervous system morphology	1610	DAO	ORPHA:803
HP:0012639	Abnormal nervous system morphology	2066	ERBB4	ORPHA:803
HP:0012639	Abnormal nervous system morphology	23025	UNC13A	ORPHA:803
HP:0012639	Abnormal nervous system morphology	899	CCNF	ORPHA:803
HP:0012639	Abnormal nervous system morphology	2348	FOLR1	OMIM:613068
HP:0012639	Abnormal nervous system morphology	34	ACADM	OMIM:201450
HP:0012639	Abnormal nervous system morphology	1629	DBT	OMIM:248600
HP:0012639	Abnormal nervous system morphology	593	BCKDHA	OMIM:248600
HP:0012639	Abnormal nervous system morphology	594	BCKDHB	OMIM:248600
HP:0012639	Abnormal nervous system morphology	10165	SLC25A13	ORPHA:247585
HP:0012639	Abnormal nervous system morphology	10165	SLC25A13	OMIM:603471
HP:0012639	Abnormal nervous system morphology	435	ASL	OMIM:207900
HP:0012639	Abnormal nervous system morphology	708	C1QBP	OMIM:617713
HP:0012639	Abnormal nervous system morphology	10577	NPC2	OMIM:607625
HP:0012639	Abnormal nervous system morphology	9445	ITM2B	OMIM:117300
HP:0012639	Abnormal nervous system morphology	4353	MPO	OMIM:104300
HP:0012639	Abnormal nervous system morphology	3077	HFE	OMIM:104300
HP:0012639	Abnormal nervous system morphology	5328	PLAU	OMIM:104300
HP:0012639	Abnormal nervous system morphology	4864	NPC1	OMIM:257220
HP:0012639	Abnormal nervous system morphology	497661	C18orf32	OMIM:619985
HP:0012639	Abnormal nervous system morphology	54914	FOCAD	OMIM:619991
HP:0012639	Abnormal nervous system morphology	27086	FOXP1	OMIM:613670
HP:0012639	Abnormal nervous system morphology	8218	CLTCL1	ORPHA:453510
HP:0012639	Abnormal nervous system morphology	91461	PKDCC	OMIM:618821
HP:0012639	Abnormal nervous system morphology	9739	SETD1A	OMIM:618832
HP:0012639	Abnormal nervous system morphology	23154	NCDN	OMIM:619373
HP:0012639	Abnormal nervous system morphology	29928	TIMM22	OMIM:618851
HP:0012639	Abnormal nervous system morphology	686	BTD	ORPHA:79241
HP:0012639	Abnormal nervous system morphology	51684	SUFU	ORPHA:475
HP:0012639	Abnormal nervous system morphology	54806	AHI1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	153241	CEP120	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65250	CPLANE1	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	200894	ARL13B	ORPHA:475
HP:0012639	Abnormal nervous system morphology	9731	CEP104	ORPHA:475
HP:0012639	Abnormal nervous system morphology	219844	HYLS1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	23247	KATNIP	ORPHA:475
HP:0012639	Abnormal nervous system morphology	219854	TMEM218	ORPHA:475
HP:0012639	Abnormal nervous system morphology	95681	CEP41	ORPHA:475
HP:0012639	Abnormal nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0012639	Abnormal nervous system morphology	56623	INPP5E	ORPHA:475
HP:0012639	Abnormal nervous system morphology	56623	INPP5E	ORPHA:1454
HP:0012639	Abnormal nervous system morphology	10464	PIBF1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	80210	ARMC9	ORPHA:475
HP:0012639	Abnormal nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	25776	CBY1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	403	ARL3	ORPHA:475
HP:0012639	Abnormal nervous system morphology	284403	WDR62	OMIM:604317
HP:0012639	Abnormal nervous system morphology	1376	CPT2	OMIM:608836
HP:0012639	Abnormal nervous system morphology	1376	CPT2	ORPHA:228308
HP:0012639	Abnormal nervous system morphology	3769	KCNJ13	ORPHA:65
HP:0012639	Abnormal nervous system morphology	343035	RD3	ORPHA:65
HP:0012639	Abnormal nervous system morphology	145226	RDH12	ORPHA:65
HP:0012639	Abnormal nervous system morphology	1406	CRX	ORPHA:65
HP:0012639	Abnormal nervous system morphology	64802	NMNAT1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	10383	TUBB4B	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9742	IFT140	ORPHA:65
HP:0012639	Abnormal nervous system morphology	85015	USP45	ORPHA:65
HP:0012639	Abnormal nervous system morphology	6121	RPE65	ORPHA:65
HP:0012639	Abnormal nervous system morphology	23418	CRB1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	5130	PCYT1A	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9657	IQCB1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	392255	GDF6	ORPHA:65
HP:0012639	Abnormal nervous system morphology	23746	AIPL1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	3000	GUCY2D	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9227	LRAT	ORPHA:65
HP:0012639	Abnormal nervous system morphology	55812	SPATA7	ORPHA:65
HP:0012639	Abnormal nervous system morphology	7287	TULP1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	167691	LCA5	ORPHA:65
HP:0012639	Abnormal nervous system morphology	3614	IMPDH1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	55670	PEX26	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5824	PEX19	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5828	PEX2	ORPHA:44
HP:0012639	Abnormal nervous system morphology	8504	PEX3	ORPHA:44
HP:0012639	Abnormal nervous system morphology	9409	PEX16	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5190	PEX6	ORPHA:44
HP:0012639	Abnormal nervous system morphology	8799	PEX11B	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5830	PEX5	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5189	PEX1	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5193	PEX12	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5194	PEX13	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5195	PEX14	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5192	PEX10	ORPHA:44
HP:0012639	Abnormal nervous system morphology	6197	RPS6KA3	ORPHA:192
HP:0012639	Abnormal nervous system morphology	57187	THOC2	OMIM:300957
HP:0012639	Abnormal nervous system morphology	5155	PDGFB	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	9213	XPR1	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	5159	PDGFRB	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	57462	MYORG	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	6575	SLC20A2	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	58494	JAM2	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	85378	TUBGCP6	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	27229	TUBGCP4	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	10733	PLK4	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	4683	NBN	ORPHA:647
HP:0012639	Abnormal nervous system morphology	84942	WDR73	OMIM:251300
HP:0012639	Abnormal nervous system morphology	84942	WDR73	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	9289	ADGRG1	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	5297	PI4KA	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	27286	SRPX2	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	2261	FGFR3	ORPHA:93274
HP:0012639	Abnormal nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	1859	DYRK1A	ORPHA:464311
HP:0012639	Abnormal nervous system morphology	26047	CNTNAP2	ORPHA:163681
HP:0012639	Abnormal nervous system morphology	28514	DLL1	OMIM:618709
HP:0012639	Abnormal nervous system morphology	10210	TOPORS	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	9851	KIAA0753	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	5147	PDE6D	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	8481	OFD1	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	317662	FAM149B1	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	374654	KIF7	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	9897	WASHC5	ORPHA:7
HP:0012639	Abnormal nervous system morphology	28952	CCDC22	ORPHA:7
HP:0012639	Abnormal nervous system morphology	1718	DHCR24	ORPHA:35107
HP:0012639	Abnormal nervous system morphology	2316	FLNA	OMIM:300049
HP:0012639	Abnormal nervous system morphology	5649	RELN	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	10300	KATNB1	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	54820	NDE1	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	51002	TPRKB	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	55644	OSGEP	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	57122	NUP107	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	10785	WDR4	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	55746	NUP133	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	112858	TP53RK	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	8270	LAGE3	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	55780	ERMARD	ORPHA:75857
HP:0012639	Abnormal nervous system morphology	9215	LARGE1	OMIM:608840
HP:0012639	Abnormal nervous system morphology	9215	LARGE1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	84892	POMGNT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	148789	B3GALNT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	79147	FKRP	ORPHA:899
HP:0012639	Abnormal nervous system morphology	29954	POMT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	1282	COL4A1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	729920	CRPPA	ORPHA:899
HP:0012639	Abnormal nervous system morphology	10329	RXYLT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	1605	DAG1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	11041	B4GAT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	10585	POMT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	84197	POMK	ORPHA:899
HP:0012639	Abnormal nervous system morphology	2218	FKTN	ORPHA:899
HP:0012639	Abnormal nervous system morphology	55624	POMGNT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	23013	SPEN	OMIM:619312
HP:0012639	Abnormal nervous system morphology	5728	PTEN	ORPHA:744
HP:0012639	Abnormal nervous system morphology	440138	ALG11	ORPHA:280071
HP:0012639	Abnormal nervous system morphology	84162	BLTP1	OMIM:617822
HP:0012639	Abnormal nervous system morphology	284217	LAMA1	OMIM:615960
HP:0012639	Abnormal nervous system morphology	9968	MED12	OMIM:305450
HP:0012639	Abnormal nervous system morphology	57724	EPG5	OMIM:242840
HP:0012639	Abnormal nervous system morphology	57724	EPG5	ORPHA:1493
HP:0012639	Abnormal nervous system morphology	92255	LMBRD2	OMIM:619694
HP:0012639	Abnormal nervous system morphology	11274	USP18	OMIM:617397
HP:0012639	Abnormal nervous system morphology	2678	GGT1	OMIM:231950
HP:0012639	Abnormal nervous system morphology	8777	MPDZ	OMIM:615219
HP:0012639	Abnormal nervous system morphology	22995	CEP152	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	163786	SASS6	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	4176	MCM7	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	80254	CEP63	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	29081	METTL5	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	23310	NCAPD3	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	23141	ANKLE2	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	7109	TRAPPC10	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	1911	PHC1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	6884	TAF13	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	9662	CEP135	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	57082	KNL1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	1021	CDK6	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	286204	CRB2	OMIM:219730
HP:0012639	Abnormal nervous system morphology	2009	EML1	OMIM:600348
HP:0012639	Abnormal nervous system morphology	5395	PMS2	OMIM:619101
HP:0012639	Abnormal nervous system morphology	120	ADD3	OMIM:617008
HP:0012639	Abnormal nervous system morphology	7737	RNF113A	OMIM:300953
HP:0012639	Abnormal nervous system morphology	51604	PIGT	ORPHA:369837
HP:0012639	Abnormal nervous system morphology	9255	AIMP1	OMIM:260600
HP:0012639	Abnormal nervous system morphology	8021	NUP214	OMIM:618426
HP:0012639	Abnormal nervous system morphology	2521	FUS	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	23435	TARDBP	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	400916	CHCHD10	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	83475	DOHH	OMIM:620066
HP:0012639	Abnormal nervous system morphology	23287	AGTPBP1	OMIM:618276
HP:0012639	Abnormal nervous system morphology	790	CAD	OMIM:616457
HP:0012639	Abnormal nervous system morphology	2782	GNB1	OMIM:616973
HP:0012639	Abnormal nervous system morphology	8869	ST3GAL5	OMIM:609056
HP:0012639	Abnormal nervous system morphology	79868	ALG13	ORPHA:324422
HP:0012639	Abnormal nervous system morphology	1540	CYLD	OMIM:619132
HP:0012639	Abnormal nervous system morphology	1315	COPB1	OMIM:619255
HP:0012639	Abnormal nervous system morphology	10352	WARS2	OMIM:619738
HP:0012639	Abnormal nervous system morphology	128989	TANGO2	ORPHA:480864
HP:0012639	Abnormal nervous system morphology	1678	TIMM8A	ORPHA:52368
HP:0012639	Abnormal nervous system morphology	6304	SATB1	OMIM:619229
HP:0012639	Abnormal nervous system morphology	10695	CNPY3	OMIM:617929
HP:0012639	Abnormal nervous system morphology	4796	TONSL	ORPHA:93357
HP:0012639	Abnormal nervous system morphology	4796	TONSL	OMIM:271510
HP:0012639	Abnormal nervous system morphology	5745	PTH1R	OMIM:600002
HP:0012639	Abnormal nervous system morphology	126129	CPT1C	ORPHA:444099
HP:0012639	Abnormal nervous system morphology	6683	SPAST	OMIM:182601
HP:0012639	Abnormal nervous system morphology	2588	GALNS	OMIM:253000
HP:0012639	Abnormal nervous system morphology	1280	COL2A1	OMIM:183900
HP:0012639	Abnormal nervous system morphology	81788	NUAK2	OMIM:619452
HP:0012639	Abnormal nervous system morphology	7066	THPO	ORPHA:71493
HP:0012639	Abnormal nervous system morphology	2717	GLA	OMIM:301500
HP:0012639	Abnormal nervous system morphology	2717	GLA	ORPHA:324
HP:0012639	Abnormal nervous system morphology	811	CALR	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	1311	COMP	OMIM:177170
HP:0012639	Abnormal nervous system morphology	6023	RMRP	OMIM:607095
HP:0012639	Abnormal nervous system morphology	80217	CFAP43	OMIM:236690
HP:0012639	Abnormal nervous system morphology	22934	RPIA	OMIM:608611
HP:0012639	Abnormal nervous system morphology	644096	SDHAF1	OMIM:619166
HP:0012639	Abnormal nervous system morphology	4780	NFE2L2	OMIM:617744
HP:0012639	Abnormal nervous system morphology	1181	CLCN2	OMIM:615651
HP:0012639	Abnormal nervous system morphology	2562	GABRB3	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	5602	MAPK10	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	9782	MATR3	OMIM:606070
HP:0012639	Abnormal nervous system morphology	6772	STAT1	ORPHA:391487
HP:0012639	Abnormal nervous system morphology	10043	TOM1	ORPHA:391487
HP:0012639	Abnormal nervous system morphology	8915	BCL10	OMIM:616098
HP:0012639	Abnormal nervous system morphology	3930	LBR	ORPHA:779
HP:0012639	Abnormal nervous system morphology	331	XIAP	OMIM:308240
HP:0012639	Abnormal nervous system morphology	4068	SH2D1A	OMIM:308240
HP:0012639	Abnormal nervous system morphology	340024	SLC6A19	ORPHA:2116
HP:0012639	Abnormal nervous system morphology	57393	CLTRN	ORPHA:2116
HP:0012639	Abnormal nervous system morphology	149233	IL23R	ORPHA:117
HP:0012639	Abnormal nervous system morphology	6775	STAT4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3586	IL10	ORPHA:117
HP:0012639	Abnormal nervous system morphology	4210	MEFV	ORPHA:117
HP:0012639	Abnormal nervous system morphology	1230	CCR1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	355	FAS	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3592	IL12A	ORPHA:117
HP:0012639	Abnormal nervous system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3106	HLA-B	ORPHA:117
HP:0012639	Abnormal nervous system morphology	7099	TLR4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3459	IFNGR1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	720	C4A	ORPHA:117
HP:0012639	Abnormal nervous system morphology	337867	UBAC2	ORPHA:117
HP:0012639	Abnormal nervous system morphology	51752	ERAP1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	8302	KLRC4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	8815	BANF1	OMIM:614008
HP:0012639	Abnormal nervous system morphology	55969	RAB5IF	OMIM:616994
HP:0012639	Abnormal nervous system morphology	57562	CEP126	ORPHA:65684
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:253550
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:271150
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:253400
HP:0012639	Abnormal nervous system morphology	6647	SOD1	OMIM:105400
HP:0012639	Abnormal nervous system morphology	5630	PRPH	OMIM:105400
HP:0012639	Abnormal nervous system morphology	1639	DCTN1	OMIM:105400
HP:0012639	Abnormal nervous system morphology	311	ANXA11	OMIM:617839
HP:0012639	Abnormal nervous system morphology	6607	SMN2	OMIM:253400
HP:0012639	Abnormal nervous system morphology	4511	MT-TC	OMIM:540000
HP:0012639	Abnormal nervous system morphology	54344	DPM3	ORPHA:263494
HP:0012639	Abnormal nervous system morphology	6786	STIM1	OMIM:185070
HP:0012639	Abnormal nervous system morphology	23600	AMACR	ORPHA:79095
HP:0012639	Abnormal nervous system morphology	3569	IL6	OMIM:108010
HP:0012639	Abnormal nervous system morphology	91754	NEK9	ORPHA:64754
HP:0012639	Abnormal nervous system morphology	9573	GDF3	ORPHA:2345
HP:0012639	Abnormal nervous system morphology	4222	MEOX1	ORPHA:2345
HP:0012639	Abnormal nervous system morphology	55521	TRIM36	OMIM:206500
HP:0012639	Abnormal nervous system morphology	3735	KARS1	OMIM:619196
HP:0012639	Abnormal nervous system morphology	5091	PC	OMIM:266150
HP:0012639	Abnormal nervous system morphology	51501	HIKESHI	OMIM:616881
HP:0012639	Abnormal nervous system morphology	81689	ISCA1	OMIM:617613
HP:0012639	Abnormal nervous system morphology	64857	PLEKHG2	OMIM:616763
HP:0012639	Abnormal nervous system morphology	6567	SLC16A2	OMIM:300523
HP:0012639	Abnormal nervous system morphology	122961	ISCA2	OMIM:616370
HP:0012639	Abnormal nervous system morphology	1910	EDNRB	OMIM:277580
HP:0012639	Abnormal nervous system morphology	7284	TUFM	OMIM:610678
HP:0012639	Abnormal nervous system morphology	56915	EXOSC5	OMIM:619576
HP:0012639	Abnormal nervous system morphology	9725	TMEM63A	OMIM:618688
HP:0012639	Abnormal nervous system morphology	3431	SP110	ORPHA:79124
HP:0012639	Abnormal nervous system morphology	8789	FBP2	OMIM:619864
HP:0012639	Abnormal nervous system morphology	18	ABAT	OMIM:613163
HP:0012639	Abnormal nervous system morphology	388962	BOLA3	OMIM:614299
HP:0012639	Abnormal nervous system morphology	3329	HSPD1	OMIM:612233
HP:0012639	Abnormal nervous system morphology	84705	GTPBP3	ORPHA:444013
HP:0012639	Abnormal nervous system morphology	728294	D2HGDH	OMIM:600721
HP:0012639	Abnormal nervous system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	10683	DLL3	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	3955	LFNG	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	145873	MESP2	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	1312	COMT	ORPHA:567
HP:0012639	Abnormal nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0012639	Abnormal nervous system morphology	2812	GP1BB	ORPHA:567
HP:0012639	Abnormal nervous system morphology	6239	RREB1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	6899	TBX1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	7290	HIRA	ORPHA:567
HP:0012639	Abnormal nervous system morphology	9632	SEC24C	ORPHA:567
HP:0012639	Abnormal nervous system morphology	7353	UFD1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	421	ARVCF	ORPHA:567
HP:0012639	Abnormal nervous system morphology	29925	GMPPB	ORPHA:588
HP:0012639	Abnormal nervous system morphology	2697	GJA1	ORPHA:1010
HP:0012639	Abnormal nervous system morphology	80781	COL18A1	OMIM:267750
HP:0012639	Abnormal nervous system morphology	7476	WNT7A	OMIM:276820
HP:0012639	Abnormal nervous system morphology	4519	MT-CYB	ORPHA:137675
HP:0012639	Abnormal nervous system morphology	64601	VPS16	OMIM:619291
HP:0012639	Abnormal nervous system morphology	4990	SIX6	OMIM:206900
HP:0012639	Abnormal nervous system morphology	6657	SOX2	OMIM:206900
HP:0012639	Abnormal nervous system morphology	4123	MAN2C1	OMIM:619775
HP:0012639	Abnormal nervous system morphology	7074	TIAM1	OMIM:619908
HP:0012639	Abnormal nervous system morphology	5621	PRNP	ORPHA:282166
HP:0012639	Abnormal nervous system morphology	25978	CHMP2B	OMIM:600795
HP:0012639	Abnormal nervous system morphology	25978	CHMP2B	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	25978	CHMP2B	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	4137	MAPT	OMIM:601104
HP:0012639	Abnormal nervous system morphology	4137	MAPT	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	4137	MAPT	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	23636	NUP62	ORPHA:225154
HP:0012639	Abnormal nervous system morphology	103	ADAR	ORPHA:225154
HP:0012639	Abnormal nervous system morphology	5663	PSEN1	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	5663	PSEN1	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	2896	GRN	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	2896	GRN	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	54664	TMEM106B	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	54664	TMEM106B	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	8878	SQSTM1	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	54209	TREM2	ORPHA:275864
HP:0012639	Abnormal nervous system morphology	54209	TREM2	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	3908	LAMA2	ORPHA:258
HP:0012639	Abnormal nervous system morphology	7248	TSC1	OMIM:607341
HP:0012639	Abnormal nervous system morphology	7249	TSC2	OMIM:607341
HP:0012639	Abnormal nervous system morphology	3178	HNRNPA1	ORPHA:52430
HP:0012639	Abnormal nervous system morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012639	Abnormal nervous system morphology	3785	KCNQ2	ORPHA:439218
HP:0012639	Abnormal nervous system morphology	5430	POLR2A	OMIM:618603
HP:0012639	Abnormal nervous system morphology	4594	MMUT	OMIM:251000
HP:0012639	Abnormal nervous system morphology	113612	CYP2U1	ORPHA:320411
HP:0012639	Abnormal nervous system morphology	55532	SLC30A10	ORPHA:309854
HP:0012639	Abnormal nervous system morphology	3417	IDH1	ORPHA:99646
HP:0012639	Abnormal nervous system morphology	11152	WDR45	OMIM:300894
HP:0012639	Abnormal nervous system morphology	2512	FTL	ORPHA:157846
HP:0012639	Abnormal nervous system morphology	83636	C19orf12	OMIM:614298
HP:0012639	Abnormal nervous system morphology	80025	PANK2	ORPHA:216866
HP:0012639	Abnormal nervous system morphology	80025	PANK2	OMIM:607236
HP:0012639	Abnormal nervous system morphology	80025	PANK2	OMIM:234200
HP:0012639	Abnormal nervous system morphology	318	NUDT2	OMIM:619844
HP:0012639	Abnormal nervous system morphology	8398	PLA2G6	ORPHA:35069
HP:0012639	Abnormal nervous system morphology	1737	DLAT	ORPHA:79244
HP:0012639	Abnormal nervous system morphology	1161	ERCC8	ORPHA:90324
HP:0012639	Abnormal nervous system morphology	2074	ERCC6	ORPHA:90324
HP:0012639	Abnormal nervous system morphology	727676	SNORD118	ORPHA:542310
HP:0012639	Abnormal nervous system morphology	55835	CENPJ	OMIM:608393
HP:0012639	Abnormal nervous system morphology	259266	ASPM	OMIM:608716
HP:0012639	Abnormal nervous system morphology	8621	CDK13	OMIM:617360
HP:0012639	Abnormal nervous system morphology	55755	CDK5RAP2	OMIM:604804
HP:0012639	Abnormal nervous system morphology	6925	TCF4	ORPHA:2896
HP:0012639	Abnormal nervous system morphology	79648	MCPH1	OMIM:251200
HP:0012639	Abnormal nervous system morphology	63925	ZNF335	ORPHA:329228
HP:0012639	Abnormal nervous system morphology	7547	ZIC3	OMIM:306955
HP:0012639	Abnormal nervous system morphology	64840	PORCN	OMIM:305600
HP:0012639	Abnormal nervous system morphology	341640	FREM2	ORPHA:2052
HP:0012639	Abnormal nervous system morphology	80144	FRAS1	ORPHA:2052
HP:0012639	Abnormal nervous system morphology	80144	FRAS1	OMIM:219000
HP:0012639	Abnormal nervous system morphology	23426	GRIP1	ORPHA:2052
HP:0012639	Abnormal nervous system morphology	5077	PAX3	OMIM:193500
HP:0012639	Abnormal nervous system morphology	4488	MSX2	ORPHA:60015
HP:0012639	Abnormal nervous system morphology	60529	ALX4	ORPHA:60015
HP:0012639	Abnormal nervous system morphology	168667	BMPER	ORPHA:66637
HP:0012639	Abnormal nervous system morphology	57216	VANGL2	OMIM:182940
HP:0012639	Abnormal nervous system morphology	6347	CCL2	OMIM:182940
HP:0012639	Abnormal nervous system morphology	81839	VANGL1	OMIM:182940
HP:0012639	Abnormal nervous system morphology	81839	VANGL1	OMIM:600145
HP:0012639	Abnormal nervous system morphology	6862	TBXT	OMIM:182940
HP:0012639	Abnormal nervous system morphology	80199	FUZ	OMIM:182940
HP:0012639	Abnormal nervous system morphology	80199	FUZ	ORPHA:1136
HP:0012639	Abnormal nervous system morphology	10093	ARPC4	OMIM:620141
HP:0012639	Abnormal nervous system morphology	25942	SIN3A	ORPHA:94065
HP:0012639	Abnormal nervous system morphology	6628	SNRPB	ORPHA:1393
HP:0012639	Abnormal nervous system morphology	84667	HES7	OMIM:613686
HP:0012639	Abnormal nervous system morphology	51339	DACT1	ORPHA:63260
HP:0012639	Abnormal nervous system morphology	2737	GLI3	ORPHA:93322
HP:0012639	Abnormal nervous system morphology	3481	IGF2	ORPHA:2128
HP:0012639	Abnormal nervous system morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0012639	Abnormal nervous system morphology	283120	H19	ORPHA:2128
HP:0012639	Abnormal nervous system morphology	6309	SC5D	OMIM:607330
HP:0012639	Abnormal nervous system morphology	4702	NDUFA8	OMIM:619272
HP:0012639	Abnormal nervous system morphology	10128	LRPPRC	OMIM:220111
HP:0012639	Abnormal nervous system morphology	10128	LRPPRC	ORPHA:70472
HP:0012639	Abnormal nervous system morphology	9997	SCO2	OMIM:604377
HP:0012639	Abnormal nervous system morphology	9997	SCO2	ORPHA:70474
HP:0012639	Abnormal nervous system morphology	4558	MT-TF	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4572	MT-TQ	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4512	MT-CO1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4513	MT-CO2	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4514	MT-CO3	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4578	MT-TW	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4578	MT-TW	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4540	MT-ND5	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4540	MT-ND5	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4541	MT-ND6	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4541	MT-ND6	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4535	MT-ND1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4535	MT-ND1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4535	MT-ND1	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4538	MT-ND4	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4538	MT-ND4	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4567	MT-TL1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4567	MT-TL1	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4574	MT-TS1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4574	MT-TS1	OMIM:220110
HP:0012639	Abnormal nervous system morphology	4575	MT-TS2	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4564	MT-TH	ORPHA:550
HP:0012639	Abnormal nervous system morphology	54539	NDUFB11	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	25915	NDUFAF3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	25915	NDUFAF3	ORPHA:70474
HP:0012639	Abnormal nervous system morphology	25915	NDUFAF3	OMIM:618240
HP:0012639	Abnormal nervous system morphology	51103	NDUFAF1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	91942	NDUFAF2	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	91942	NDUFAF2	OMIM:618233
HP:0012639	Abnormal nervous system morphology	91942	NDUFAF2	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	51300	TIMMDC1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4716	NDUFB10	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4723	NDUFV1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4723	NDUFV1	OMIM:618225
HP:0012639	Abnormal nervous system morphology	4723	NDUFV1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	55572	FOXRED1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	55572	FOXRED1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	284184	NDUFAF8	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	55863	TMEM126B	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4537	MT-ND3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4537	MT-ND3	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4729	NDUFV2	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4729	NDUFV2	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4694	NDUFA1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4720	NDUFS2	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4720	NDUFS2	ORPHA:70474
HP:0012639	Abnormal nervous system morphology	4720	NDUFS2	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4724	NDUFS4	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4724	NDUFS4	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4724	NDUFS4	OMIM:252010
HP:0012639	Abnormal nervous system morphology	4726	NDUFS6	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4728	NDUFS8	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4728	NDUFS8	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4722	NDUFS3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4722	NDUFS3	OMIM:618230
HP:0012639	Abnormal nervous system morphology	4722	NDUFS3	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	79133	NDUFAF5	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	79133	NDUFAF5	OMIM:618238
HP:0012639	Abnormal nervous system morphology	79133	NDUFAF5	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	126328	NDUFA11	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4709	NDUFB3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	80224	NUBPL	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	80224	NUBPL	OMIM:618242
HP:0012639	Abnormal nervous system morphology	29078	NDUFAF4	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	374291	NDUFS7	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	374291	NDUFS7	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4700	NDUFA6	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4700	NDUFA6	OMIM:618253
HP:0012639	Abnormal nervous system morphology	4536	MT-ND2	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4536	MT-ND2	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4719	NDUFS1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4719	NDUFS1	OMIM:618226
HP:0012639	Abnormal nervous system morphology	4719	NDUFS1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4715	NDUFB9	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	57128	LYRM4	OMIM:615595
HP:0012639	Abnormal nervous system morphology	4570	MT-TN	OMIM:220110
HP:0012639	Abnormal nervous system morphology	6834	SURF1	OMIM:220110
HP:0012639	Abnormal nervous system morphology	6834	SURF1	ORPHA:70474
HP:0012639	Abnormal nervous system morphology	6834	SURF1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	64849	SLC13A3	OMIM:618384
HP:0012639	Abnormal nervous system morphology	92609	TIMM50	OMIM:617698
HP:0012639	Abnormal nervous system morphology	10059	DNM1L	OMIM:614388
HP:0012639	Abnormal nervous system morphology	6513	SLC2A1	OMIM:612126
HP:0012639	Abnormal nervous system morphology	85476	GFM1	OMIM:609060
HP:0012639	Abnormal nervous system morphology	4191	MDH2	OMIM:617339
HP:0012639	Abnormal nervous system morphology	84334	COA8	ORPHA:436271
HP:0012639	Abnormal nervous system morphology	90624	LYRM7	OMIM:615838
HP:0012639	Abnormal nervous system morphology	123263	MTFMT	OMIM:614947
HP:0012639	Abnormal nervous system morphology	123263	MTFMT	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	8659	ALDH4A1	ORPHA:79101
HP:0012639	Abnormal nervous system morphology	10667	FARS2	OMIM:614946
HP:0012639	Abnormal nervous system morphology	8050	PDHX	ORPHA:255182
HP:0012639	Abnormal nervous system morphology	4714	NDUFB8	ORPHA:70474
HP:0012639	Abnormal nervous system morphology	4714	NDUFB8	OMIM:618252
HP:0012639	Abnormal nervous system morphology	4577	MT-TV	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4508	MT-ATP6	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4566	MT-TK	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	51112	TRAPPC12	ORPHA:500144
HP:0012639	Abnormal nervous system morphology	128240	NAXE	OMIM:617186
HP:0012639	Abnormal nervous system morphology	291	SLC25A4	OMIM:617184
HP:0012639	Abnormal nervous system morphology	291	SLC25A4	OMIM:615418
HP:0012639	Abnormal nervous system morphology	65993	MRPS34	OMIM:617664
HP:0012639	Abnormal nervous system morphology	25828	TXN2	ORPHA:478029
HP:0012639	Abnormal nervous system morphology	25828	TXN2	OMIM:616811
HP:0012639	Abnormal nervous system morphology	5160	PDHA1	OMIM:312170
HP:0012639	Abnormal nervous system morphology	5160	PDHA1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	5160	PDHA1	ORPHA:79243
HP:0012639	Abnormal nervous system morphology	56997	COQ8A	ORPHA:139485
HP:0012639	Abnormal nervous system morphology	56997	COQ8A	OMIM:612016
HP:0012639	Abnormal nervous system morphology	1352	COX10	OMIM:619046
HP:0012639	Abnormal nervous system morphology	84340	GFM2	OMIM:618397
HP:0012639	Abnormal nervous system morphology	84340	GFM2	ORPHA:565624
HP:0012639	Abnormal nervous system morphology	54931	TRMT10C	OMIM:616974
HP:0012639	Abnormal nervous system morphology	539	ATP5PO	OMIM:620359
HP:0012639	Abnormal nervous system morphology	57038	RARS2	OMIM:611523
HP:0012639	Abnormal nervous system morphology	4204	MECP2	ORPHA:778
HP:0012639	Abnormal nervous system morphology	87178	PNPT1	ORPHA:319514
HP:0012639	Abnormal nervous system morphology	87178	PNPT1	OMIM:614932
HP:0012639	Abnormal nervous system morphology	1340	COX6B1	OMIM:619051
HP:0012639	Abnormal nervous system morphology	6389	SDHA	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	80704	SLC19A3	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	55967	NDUFA12	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	55967	NDUFA12	OMIM:618244
HP:0012639	Abnormal nervous system morphology	51204	TACO1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	137682	NDUFAF6	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	1355	COX15	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	1892	ECHS1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	1892	ECHS1	OMIM:616277
HP:0012639	Abnormal nervous system morphology	51079	NDUFA13	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4705	NDUFA10	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4705	NDUFA10	OMIM:618243
HP:0012639	Abnormal nervous system morphology	51601	LIPT1	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4695	NDUFA2	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4697	NDUFA4	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	4697	NDUFA4	OMIM:619065
HP:0012639	Abnormal nervous system morphology	4704	NDUFA9	ORPHA:255241
HP:0012639	Abnormal nervous system morphology	84987	COX14	OMIM:619053
HP:0012639	Abnormal nervous system morphology	1351	COX8A	OMIM:619059
HP:0012639	Abnormal nervous system morphology	4358	MPV17	OMIM:618400
HP:0012639	Abnormal nervous system morphology	200205	IBA57	OMIM:615330
HP:0012639	Abnormal nervous system morphology	60386	SLC25A19	OMIM:613710
HP:0012639	Abnormal nervous system morphology	55157	DARS2	ORPHA:137898
HP:0012639	Abnormal nervous system morphology	55005	RMND1	OMIM:614922
HP:0012639	Abnormal nervous system morphology	9361	LONP1	ORPHA:79243
HP:0012639	Abnormal nervous system morphology	91647	ATPAF2	OMIM:604273
HP:0012639	Abnormal nervous system morphology	8802	SUCLG1	OMIM:245400
HP:0012639	Abnormal nervous system morphology	8802	SUCLG1	ORPHA:17
HP:0012639	Abnormal nervous system morphology	100303755	PET117	OMIM:619063
HP:0012639	Abnormal nervous system morphology	27247	NFU1	OMIM:605711
HP:0012639	Abnormal nervous system morphology	1327	COX4I1	OMIM:619060
HP:0012639	Abnormal nervous system morphology	84842	HPDL	OMIM:619026
HP:0012639	Abnormal nervous system morphology	81570	CLPB	OMIM:616271
HP:0012639	Abnormal nervous system morphology	8803	SUCLA2	OMIM:612073
HP:0012639	Abnormal nervous system morphology	790955	UQCC3	OMIM:616111
HP:0012639	Abnormal nervous system morphology	133686	NADK2	OMIM:616034
HP:0012639	Abnormal nervous system morphology	50484	RRM2B	OMIM:612075
HP:0012639	Abnormal nervous system morphology	27429	HTRA2	OMIM:617248
HP:0012639	Abnormal nervous system morphology	84300	UQCC2	OMIM:615824
HP:0012639	Abnormal nervous system morphology	79731	NARS2	OMIM:616239
HP:0012639	Abnormal nervous system morphology	27010	TPK1	OMIM:614458
HP:0012639	Abnormal nervous system morphology	3028	HSD17B10	ORPHA:391428
HP:0012639	Abnormal nervous system morphology	5888	RAD51	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	10126	DNAL4	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	9423	NTN1	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	1630	DCC	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	2581	GALC	ORPHA:206448
HP:0012639	Abnormal nervous system morphology	57679	ALS2	OMIM:607225
HP:0012639	Abnormal nervous system morphology	6182	MRPL12	OMIM:618951
HP:0012639	Abnormal nervous system morphology	7384	UQCRC1	OMIM:619279
HP:0012639	Abnormal nervous system morphology	51473	DCDC2	ORPHA:84081
HP:0012639	Abnormal nervous system morphology	8671	SLC4A4	OMIM:604278
HP:0012639	Abnormal nervous system morphology	3394	IRF8	OMIM:226990
HP:0012639	Abnormal nervous system morphology	3117	HLA-DQA1	OMIM:212750
HP:0012639	Abnormal nervous system morphology	4256	MGP	OMIM:245150
HP:0012639	Abnormal nervous system morphology	9365	KL	OMIM:617994
HP:0012639	Abnormal nervous system morphology	5741	PTH	OMIM:146200
HP:0012639	Abnormal nervous system morphology	56160	NSMCE3	OMIM:617241
HP:0012639	Abnormal nervous system morphology	79650	USB1	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	55135	WRAP53	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	4869	NPM1	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	1188	CLCNKB	ORPHA:358
HP:0012639	Abnormal nervous system morphology	6559	SLC12A3	ORPHA:358
HP:0012639	Abnormal nervous system morphology	79783	SUGCT	ORPHA:35706
HP:0012639	Abnormal nervous system morphology	4913	NTHL1	ORPHA:454840
HP:0012639	Abnormal nervous system morphology	4913	NTHL1	OMIM:616415
HP:0012639	Abnormal nervous system morphology	8930	MBD4	OMIM:619975
HP:0012639	Abnormal nervous system morphology	7486	WRN	ORPHA:902
HP:0012639	Abnormal nervous system morphology	7486	WRN	OMIM:277700
HP:0012639	Abnormal nervous system morphology	4330	MN1	OMIM:607174
HP:0012639	Abnormal nervous system morphology	23405	DICER1	OMIM:601200
HP:0012639	Abnormal nervous system morphology	2064	ERBB2	OMIM:137800
HP:0012639	Abnormal nervous system morphology	4193	MDM2	ORPHA:524
HP:0012639	Abnormal nervous system morphology	5566	PRKACA	ORPHA:189439
HP:0012639	Abnormal nervous system morphology	4072	EPCAM	ORPHA:144
HP:0012639	Abnormal nervous system morphology	27030	MLH3	ORPHA:144
HP:0012639	Abnormal nervous system morphology	22909	FAN1	ORPHA:144
HP:0012639	Abnormal nervous system morphology	2956	MSH6	ORPHA:144
HP:0012639	Abnormal nervous system morphology	5378	PMS1	ORPHA:144
HP:0012639	Abnormal nervous system morphology	4436	MSH2	ORPHA:144
HP:0012639	Abnormal nervous system morphology	64218	SEMA4A	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	657	BMPR1A	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	79798	ARMC5	ORPHA:189427
HP:0012639	Abnormal nervous system morphology	9101	USP8	OMIM:219090
HP:0012639	Abnormal nervous system morphology	3418	IDH2	ORPHA:163634
HP:0012639	Abnormal nervous system morphology	5264	PHYH	OMIM:266500
HP:0012639	Abnormal nervous system morphology	966	CD59	OMIM:612300
HP:0012639	Abnormal nervous system morphology	587	BCAT2	OMIM:618850
HP:0012639	Abnormal nervous system morphology	83483	PLVAP	OMIM:618183
HP:0012639	Abnormal nervous system morphology	51081	MRPS7	OMIM:617872
HP:0012639	Abnormal nervous system morphology	405753	DUOXA2	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	6528	SLC5A5	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	7038	TG	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	7173	TPO	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	389434	IYD	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	50506	DUOX2	ORPHA:95716
HP:0012639	Abnormal nervous system morphology	50506	DUOX2	ORPHA:226316
HP:0012639	Abnormal nervous system morphology	7068	THRB	OMIM:145650
HP:0012639	Abnormal nervous system morphology	7068	THRB	OMIM:274300
HP:0012639	Abnormal nervous system morphology	7849	PAX8	OMIM:218700
HP:0012639	Abnormal nervous system morphology	79048	SECISBP2	ORPHA:171706
HP:0012639	Abnormal nervous system morphology	79048	SECISBP2	OMIM:609698
HP:0012639	Abnormal nervous system morphology	169792	GLIS3	OMIM:610199
HP:0012639	Abnormal nervous system morphology	7253	TSHR	OMIM:275200
HP:0012639	Abnormal nervous system morphology	7253	TSHR	ORPHA:90673
HP:0012639	Abnormal nervous system morphology	55186	SLC25A36	OMIM:620211
HP:0012639	Abnormal nervous system morphology	429	ASCL1	ORPHA:99803
HP:0012639	Abnormal nervous system morphology	861	RUNX1	OMIM:601399
HP:0012639	Abnormal nervous system morphology	256646	NUTM1	ORPHA:443167
HP:0012639	Abnormal nervous system morphology	50846	DHH	ORPHA:168563
HP:0012639	Abnormal nervous system morphology	246243	RNASEH1	ORPHA:329336
HP:0012639	Abnormal nervous system morphology	3730	ANOS1	OMIM:308700
HP:0012639	Abnormal nervous system morphology	3730	ANOS1	ORPHA:478
HP:0012639	Abnormal nervous system morphology	79625	NDNF	OMIM:618841
HP:0012639	Abnormal nervous system morphology	79625	NDNF	ORPHA:478
HP:0012639	Abnormal nervous system morphology	81848	SPRY4	ORPHA:478
HP:0012639	Abnormal nervous system morphology	23767	FLRT3	ORPHA:478
HP:0012639	Abnormal nervous system morphology	128674	PROKR2	ORPHA:478
HP:0012639	Abnormal nervous system morphology	389549	FEZF1	ORPHA:478
HP:0012639	Abnormal nervous system morphology	54756	IL17RD	ORPHA:478
HP:0012639	Abnormal nervous system morphology	285025	CCDC141	ORPHA:478
HP:0012639	Abnormal nervous system morphology	60675	PROK2	ORPHA:478
HP:0012639	Abnormal nervous system morphology	1848	DUSP6	ORPHA:478
HP:0012639	Abnormal nervous system morphology	6870	TACR3	ORPHA:478
HP:0012639	Abnormal nervous system morphology	55717	WDR11	ORPHA:478
HP:0012639	Abnormal nervous system morphology	9394	HS6ST1	ORPHA:478
HP:0012639	Abnormal nervous system morphology	8822	FGF17	ORPHA:478
HP:0012639	Abnormal nervous system morphology	9158	FIBP	ORPHA:500095
HP:0012639	Abnormal nervous system morphology	5781	PTPN11	ORPHA:500
HP:0012639	Abnormal nervous system morphology	5781	PTPN11	OMIM:151100
HP:0012639	Abnormal nervous system morphology	5894	RAF1	ORPHA:500
HP:0012639	Abnormal nervous system morphology	3664	IRF6	OMIM:119500
HP:0012639	Abnormal nervous system morphology	10584	COLEC10	ORPHA:293843
HP:0012639	Abnormal nervous system morphology	78989	COLEC11	ORPHA:293843
HP:0012639	Abnormal nervous system morphology	6885	MAP3K7	ORPHA:1826
HP:0012639	Abnormal nervous system morphology	3166	HMX1	OMIM:612109
HP:0012639	Abnormal nervous system morphology	7879	RAB7A	OMIM:600882
HP:0012639	Abnormal nervous system morphology	54332	GDAP1	OMIM:607706
HP:0012639	Abnormal nervous system morphology	90678	LRSAM1	OMIM:614436
HP:0012639	Abnormal nervous system morphology	8729	GBF1	OMIM:606483
HP:0012639	Abnormal nervous system morphology	23769	FLRT1	ORPHA:320406
HP:0012639	Abnormal nervous system morphology	23321	TRIM2	OMIM:615490
HP:0012639	Abnormal nervous system morphology	56704	JPH1	OMIM:607831
HP:0012639	Abnormal nervous system morphology	54463	RETREG1	OMIM:201300
HP:0012639	Abnormal nervous system morphology	65125	WNK1	OMIM:201300
HP:0012639	Abnormal nervous system morphology	10342	TFG	OMIM:604484
HP:0012639	Abnormal nervous system morphology	10939	AFG3L2	OMIM:614487
HP:0012639	Abnormal nervous system morphology	50717	DCAF8	OMIM:610100
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:118220
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:180800
HP:0012639	Abnormal nervous system morphology	5376	PMP22	ORPHA:98916
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:145900
HP:0012639	Abnormal nervous system morphology	9639	ARHGEF10	OMIM:608236
HP:0012639	Abnormal nervous system morphology	10397	NDRG1	OMIM:601455
HP:0012639	Abnormal nervous system morphology	6305	SBF1	OMIM:615284
HP:0012639	Abnormal nervous system morphology	59345	GNB4	OMIM:615185
HP:0012639	Abnormal nervous system morphology	5375	PMP2	OMIM:618279
HP:0012639	Abnormal nervous system morphology	64423	INF2	OMIM:614455
HP:0012639	Abnormal nervous system morphology	1337	COX6A1	OMIM:616039
HP:0012639	Abnormal nervous system morphology	1959	EGR2	OMIM:605253
HP:0012639	Abnormal nervous system morphology	1959	EGR2	OMIM:145900
HP:0012639	Abnormal nervous system morphology	81846	SBF2	OMIM:604563
HP:0012639	Abnormal nervous system morphology	9516	LITAF	OMIM:601098
HP:0012639	Abnormal nervous system morphology	121512	FGD4	OMIM:609311
HP:0012639	Abnormal nervous system morphology	79628	SH3TC2	OMIM:601596
HP:0012639	Abnormal nervous system morphology	1890	TYMP	ORPHA:298
HP:0012639	Abnormal nervous system morphology	3980	LIG3	ORPHA:298
HP:0012639	Abnormal nervous system morphology	8518	ELP1	OMIM:223900
HP:0012639	Abnormal nervous system morphology	10558	SPTLC1	OMIM:162400
HP:0012639	Abnormal nervous system morphology	57449	PLEKHG5	OMIM:615376
HP:0012639	Abnormal nervous system morphology	57716	PRX	OMIM:614895
HP:0012639	Abnormal nervous system morphology	54840	APTX	OMIM:208920
HP:0012639	Abnormal nervous system morphology	26353	HSPB8	OMIM:608673
HP:0012639	Abnormal nervous system morphology	23646	PLD3	OMIM:617770
HP:0012639	Abnormal nervous system morphology	3094	HINT1	ORPHA:324442
HP:0012639	Abnormal nervous system morphology	3094	HINT1	OMIM:137200
HP:0012639	Abnormal nervous system morphology	23345	SYNE1	ORPHA:88644
HP:0012639	Abnormal nervous system morphology	25923	ATL3	OMIM:615632
HP:0012639	Abnormal nervous system morphology	4744	NEFH	OMIM:616924
HP:0012639	Abnormal nervous system morphology	64837	KLC2	OMIM:609541
HP:0012639	Abnormal nervous system morphology	2259	FGF14	ORPHA:98764
HP:0012639	Abnormal nervous system morphology	25894	PLEKHG4	ORPHA:98765
HP:0012639	Abnormal nervous system morphology	3074	HEXB	ORPHA:309169
HP:0012639	Abnormal nervous system morphology	63895	PIEZO2	OMIM:617146
HP:0012639	Abnormal nervous system morphology	219285	SAMD9L	OMIM:619806
HP:0012639	Abnormal nervous system morphology	1716	DGUOK	ORPHA:329314
HP:0012639	Abnormal nervous system morphology	1509	CTSD	OMIM:610127
HP:0012639	Abnormal nervous system morphology	823	CAPN1	OMIM:616907
HP:0012639	Abnormal nervous system morphology	23400	ATP13A2	ORPHA:513436
HP:0012639	Abnormal nervous system morphology	8449	DHX16	OMIM:618733
HP:0012639	Abnormal nervous system morphology	144165	PRICKLE1	OMIM:612437
HP:0012639	Abnormal nervous system morphology	4000	LMNA	ORPHA:98856
HP:0012639	Abnormal nervous system morphology	2395	FXN	ORPHA:95
HP:0012639	Abnormal nervous system morphology	9927	MFN2	ORPHA:99947
HP:0012639	Abnormal nervous system morphology	4921	DDR2	OMIM:271665
HP:0012639	Abnormal nervous system morphology	2294	FOXF1	OMIM:265380
HP:0012639	Abnormal nervous system morphology	3590	IL11RA	OMIM:614188
HP:0012639	Abnormal nervous system morphology	23259	DDHD2	OMIM:615033
HP:0012639	Abnormal nervous system morphology	23028	KDM1A	OMIM:616728
HP:0012639	Abnormal nervous system morphology	25839	COG4	OMIM:618150
HP:0012639	Abnormal nervous system morphology	10743	RAI1	ORPHA:477817
HP:0012639	Abnormal nervous system morphology	1387	CREBBP	ORPHA:353281
HP:0012639	Abnormal nervous system morphology	1387	CREBBP	ORPHA:353277
HP:0012639	Abnormal nervous system morphology	92002	CCNQ	ORPHA:140952
HP:0012639	Abnormal nervous system morphology	2033	EP300	ORPHA:353284
HP:0012639	Abnormal nervous system morphology	2192	FBLN1	ORPHA:404451
HP:0012639	Abnormal nervous system morphology	3190	HNRNPK	OMIM:616580
HP:0012639	Abnormal nervous system morphology	22943	DKK1	ORPHA:268882
HP:0012639	Abnormal nervous system morphology	9939	RBM8A	OMIM:274000
HP:0012639	Abnormal nervous system morphology	2131	EXT1	ORPHA:321
HP:0012639	Abnormal nervous system morphology	2132	EXT2	ORPHA:321
HP:0012639	Abnormal nervous system morphology	8091	HMGA2	ORPHA:94063
HP:0012639	Abnormal nervous system morphology	23592	LEMD3	ORPHA:94063
HP:0012639	Abnormal nervous system morphology	860	RUNX2	OMIM:119600
HP:0012639	Abnormal nervous system morphology	29072	SETD2	OMIM:616831
HP:0012639	Abnormal nervous system morphology	4853	NOTCH2	ORPHA:955
HP:0012639	Abnormal nervous system morphology	6911	TBX6	OMIM:122600
HP:0012639	Abnormal nervous system morphology	5010	CLDN11	OMIM:619328
HP:0012639	Abnormal nervous system morphology	1650	DDOST	ORPHA:300536
HP:0012639	Abnormal nervous system morphology	64834	ELOVL1	OMIM:618527
HP:0012639	Abnormal nervous system morphology	29978	UBQLN2	OMIM:300857
HP:0012639	Abnormal nervous system morphology	80821	DDHD1	OMIM:609340
HP:0012639	Abnormal nervous system morphology	4618	MYF6	ORPHA:169189
HP:0012639	Abnormal nervous system morphology	6774	STAT3	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	2645	GCK	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	3651	PDX1	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	6833	ABCC8	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	3630	INS	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	8888	MCM3AP	OMIM:618124
HP:0012639	Abnormal nervous system morphology	51008	ASCC1	OMIM:616867
HP:0012639	Abnormal nervous system morphology	9325	TRIP4	OMIM:616866
HP:0012639	Abnormal nervous system morphology	5351	PLOD1	ORPHA:1900
HP:0012639	Abnormal nervous system morphology	2632	GBE1	OMIM:263570
HP:0012639	Abnormal nervous system morphology	3475	IFRD1	ORPHA:98771
HP:0012639	Abnormal nervous system morphology	65260	COA7	OMIM:618387
HP:0012639	Abnormal nervous system morphology	55958	KLHL9	ORPHA:399081
HP:0012639	Abnormal nervous system morphology	9147	NEMF	OMIM:619099
HP:0012639	Abnormal nervous system morphology	4556	MT-TE	ORPHA:2596
HP:0012639	Abnormal nervous system morphology	2643	GCH1	ORPHA:98808
HP:0012639	Abnormal nervous system morphology	4929	NR4A2	ORPHA:98808
HP:0012639	Abnormal nervous system morphology	4929	NR4A2	OMIM:619911
HP:0012639	Abnormal nervous system morphology	3615	IMPDH2	ORPHA:98808
HP:0012639	Abnormal nervous system morphology	7054	TH	OMIM:605407
HP:0012639	Abnormal nervous system morphology	7054	TH	ORPHA:101150
HP:0012639	Abnormal nervous system morphology	55163	PNPO	ORPHA:79096
HP:0012639	Abnormal nervous system morphology	55163	PNPO	OMIM:610090
HP:0012639	Abnormal nervous system morphology	5805	PTS	OMIM:261640
HP:0012639	Abnormal nervous system morphology	1644	DDC	OMIM:608643
HP:0012639	Abnormal nervous system morphology	9256	TSPOAP1	ORPHA:101150
HP:0012639	Abnormal nervous system morphology	4665	NAB2	ORPHA:2126
HP:0012639	Abnormal nervous system morphology	6778	STAT6	ORPHA:2126
HP:0012639	Abnormal nervous system morphology	7153	TOP2A	ORPHA:635
HP:0012639	Abnormal nervous system morphology	238	ALK	ORPHA:635
HP:0012639	Abnormal nervous system morphology	389421	LIN28B	ORPHA:635
HP:0012639	Abnormal nervous system morphology	4004	LMO1	ORPHA:635
HP:0012639	Abnormal nervous system morphology	257	ALX3	OMIM:136760
HP:0012639	Abnormal nervous system morphology	257	ALX3	ORPHA:391474
HP:0012639	Abnormal nervous system morphology	8092	ALX1	ORPHA:306542
HP:0012639	Abnormal nervous system morphology	7337	UBE3A	ORPHA:98794
HP:0012639	Abnormal nervous system morphology	7337	UBE3A	ORPHA:98795
HP:0012639	Abnormal nervous system morphology	7337	UBE3A	ORPHA:411511
HP:0012639	Abnormal nervous system morphology	7337	UBE3A	ORPHA:411515
HP:0012639	Abnormal nervous system morphology	4948	OCA2	ORPHA:98794
HP:0012639	Abnormal nervous system morphology	9373	PLAA	OMIM:617527
HP:0012639	Abnormal nervous system morphology	6638	SNRPN	ORPHA:411515
HP:0012639	Abnormal nervous system morphology	57194	ATP10A	ORPHA:411515
HP:0012639	Abnormal nervous system morphology	60482	SLC5A7	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	4649	MYO9A	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	1305	COL13A1	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	1103	CHAT	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	6576	SLC25A1	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	6843	VAMP1	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	375790	AGRN	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	127833	SYT2	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	6572	SLC18A3	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	6616	SNAP25	ORPHA:98914
HP:0012639	Abnormal nervous system morphology	1289	COL5A1	OMIM:619329
HP:0012639	Abnormal nervous system morphology	5589	PRKCSH	OMIM:174050
HP:0012639	Abnormal nervous system morphology	1277	COL1A1	ORPHA:287
HP:0012639	Abnormal nervous system morphology	1290	COL5A2	ORPHA:287
HP:0012639	Abnormal nervous system morphology	4860	PNP	OMIM:613179
HP:0012639	Abnormal nervous system morphology	81704	DOCK8	OMIM:243700
HP:0012639	Abnormal nervous system morphology	10621	POLR3F	OMIM:619872
HP:0012639	Abnormal nervous system morphology	1301	COL11A1	OMIM:154780
HP:0012639	Abnormal nervous system morphology	6571	SLC18A2	ORPHA:352649
HP:0012639	Abnormal nervous system morphology	22854	NTNG1	ORPHA:3095
HP:0012639	Abnormal nervous system morphology	55858	TMEM165	OMIM:614727
HP:0012639	Abnormal nervous system morphology	10087	CERT1	OMIM:616351
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0012639	Abnormal nervous system morphology	2668	GDNF	ORPHA:661
HP:0012639	Abnormal nervous system morphology	283446	MYO1H	ORPHA:661
HP:0012639	Abnormal nervous system morphology	2733	GLE1	OMIM:611890
HP:0012639	Abnormal nervous system morphology	7317	UBA1	ORPHA:1145
HP:0012639	Abnormal nervous system morphology	6904	TBCD	ORPHA:496641
HP:0012639	Abnormal nervous system morphology	10134	BCAP31	OMIM:300475
HP:0012639	Abnormal nervous system morphology	10134	BCAP31	ORPHA:369939
HP:0012639	Abnormal nervous system morphology	158	ADSL	OMIM:103050
HP:0012639	Abnormal nervous system morphology	84992	PIGY	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	84720	PIGO	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	93210	PGAP3	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	284098	PIGW	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	27315	PGAP2	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	55650	PIGV	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	9487	PIGL	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	10588	MTHFS	OMIM:618367
HP:0012639	Abnormal nervous system morphology	55823	VPS11	OMIM:616683
HP:0012639	Abnormal nervous system morphology	160418	TMTC3	OMIM:617255
HP:0012639	Abnormal nervous system morphology	84668	HYCC1	ORPHA:85163
HP:0012639	Abnormal nervous system morphology	6509	SLC1A4	ORPHA:447997
HP:0012639	Abnormal nervous system morphology	1528	CYB5A	ORPHA:621
HP:0012639	Abnormal nervous system morphology	1727	CYB5R3	ORPHA:621
HP:0012639	Abnormal nervous system morphology	8604	SLC25A12	OMIM:612949
HP:0012639	Abnormal nervous system morphology	85365	ALG2	ORPHA:79326
HP:0012639	Abnormal nervous system morphology	1967	EIF2B1	OMIM:603896
HP:0012639	Abnormal nervous system morphology	57165	GJC2	OMIM:608804
HP:0012639	Abnormal nervous system morphology	80232	WDR26	ORPHA:513456
HP:0012639	Abnormal nervous system morphology	5917	RARS1	ORPHA:438114
HP:0012639	Abnormal nervous system morphology	6663	SOX10	OMIM:611584
HP:0012639	Abnormal nervous system morphology	10382	TUBB4A	OMIM:612438
HP:0012639	Abnormal nervous system morphology	4668	NAGA	OMIM:609242
HP:0012639	Abnormal nervous system morphology	4281	MID1	ORPHA:2745
HP:0012639	Abnormal nervous system morphology	4983	OPHN1	ORPHA:137831
HP:0012639	Abnormal nervous system morphology	95	ACY1	ORPHA:137754
HP:0012639	Abnormal nervous system morphology	1778	DYNC1H1	OMIM:614563
HP:0012639	Abnormal nervous system morphology	23229	ARHGEF9	OMIM:300607
HP:0012639	Abnormal nervous system morphology	8496	PPFIBP1	OMIM:620024
HP:0012639	Abnormal nervous system morphology	1130	LYST	ORPHA:167
HP:0012639	Abnormal nervous system morphology	6687	SPG7	ORPHA:35689
HP:0012639	Abnormal nervous system morphology	5611	DNAJC3	ORPHA:445062
HP:0012639	Abnormal nervous system morphology	10908	PNPLA6	ORPHA:139480
HP:0012639	Abnormal nervous system morphology	10908	PNPLA6	OMIM:612020
HP:0012639	Abnormal nervous system morphology	215	ABCD1	ORPHA:139399
HP:0012639	Abnormal nervous system morphology	9420	CYP7B1	ORPHA:100986
HP:0012639	Abnormal nervous system morphology	22948	CCT5	OMIM:256840
HP:0012639	Abnormal nervous system morphology	80208	SPG11	ORPHA:2822
HP:0012639	Abnormal nervous system morphology	22880	MORC2	ORPHA:466768
HP:0012639	Abnormal nervous system morphology	25974	MMACHC	ORPHA:79282
HP:0012639	Abnormal nervous system morphology	5832	ALDH18A1	ORPHA:447757
HP:0012639	Abnormal nervous system morphology	4001	LMNB1	ORPHA:99027
HP:0012639	Abnormal nervous system morphology	283989	TSEN54	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	116461	TSEN15	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	79042	TSEN34	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	80746	TSEN2	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	51091	SEPSECS	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	7443	VRK1	OMIM:607596
HP:0012639	Abnormal nervous system morphology	4763	NF1	OMIM:162210
HP:0012639	Abnormal nervous system morphology	339453	TMEM240	ORPHA:98773
HP:0012639	Abnormal nervous system morphology	8450	CUL4B	OMIM:300354
HP:0012639	Abnormal nervous system morphology	55703	POLR3B	OMIM:614381
HP:0012639	Abnormal nervous system morphology	375	ARF1	OMIM:618185
HP:0012639	Abnormal nervous system morphology	94005	PIGS	OMIM:618143
HP:0012639	Abnormal nervous system morphology	2895	GRID2	OMIM:616204
HP:0012639	Abnormal nervous system morphology	2895	GRID2	ORPHA:363432
HP:0012639	Abnormal nervous system morphology	64116	SLC39A8	OMIM:616721
HP:0012639	Abnormal nervous system morphology	9698	PUM1	OMIM:617931
HP:0012639	Abnormal nervous system morphology	4311	MME	OMIM:617018
HP:0012639	Abnormal nervous system morphology	4311	MME	ORPHA:497764
HP:0012639	Abnormal nervous system morphology	23533	PIK3R5	ORPHA:64753
HP:0012639	Abnormal nervous system morphology	23064	SETX	ORPHA:64753
HP:0012639	Abnormal nervous system morphology	9254	CACNA2D2	OMIM:618501
HP:0012639	Abnormal nervous system morphology	255928	SYT14	OMIM:614229
HP:0012639	Abnormal nervous system morphology	55775	TDP1	ORPHA:94124
HP:0012639	Abnormal nervous system morphology	60481	ELOVL5	OMIM:615957
HP:0012639	Abnormal nervous system morphology	5582	PRKCG	ORPHA:98763
HP:0012639	Abnormal nervous system morphology	3708	ITPR1	ORPHA:208513
HP:0012639	Abnormal nervous system morphology	3708	ITPR1	OMIM:117360
HP:0012639	Abnormal nervous system morphology	773	CACNA1A	OMIM:108500
HP:0012639	Abnormal nervous system morphology	773	CACNA1A	ORPHA:97
HP:0012639	Abnormal nervous system morphology	724066	ATXN8	ORPHA:98760
HP:0012639	Abnormal nervous system morphology	6315	ATXN8OS	ORPHA:98760
HP:0012639	Abnormal nervous system morphology	6548	SLC9A1	OMIM:616291
HP:0012639	Abnormal nervous system morphology	203068	TUBB	OMIM:156610
HP:0012639	Abnormal nervous system morphology	7222	TRPC3	OMIM:616410
HP:0012639	Abnormal nervous system morphology	7222	TRPC3	ORPHA:458798
HP:0012639	Abnormal nervous system morphology	5859	QARS1	OMIM:615760
HP:0012639	Abnormal nervous system morphology	53335	BCL11A	OMIM:617101
HP:0012639	Abnormal nervous system morphology	1742	DLG4	OMIM:618793
HP:0012639	Abnormal nervous system morphology	4010	LMX1B	ORPHA:495818
HP:0012639	Abnormal nervous system morphology	6812	STXBP1	ORPHA:495818
HP:0012639	Abnormal nervous system morphology	54676	GTPBP2	OMIM:617988
HP:0012639	Abnormal nervous system morphology	11261	CHP1	OMIM:618438
HP:0012639	Abnormal nervous system morphology	4884	NPTX1	OMIM:620158
HP:0012639	Abnormal nervous system morphology	1600	DAB1	ORPHA:363710
HP:0012639	Abnormal nervous system morphology	3064	HTT	ORPHA:248111
HP:0012639	Abnormal nervous system morphology	3064	HTT	OMIM:617435
HP:0012639	Abnormal nervous system morphology	8913	CACNA1G	ORPHA:458803
HP:0012639	Abnormal nervous system morphology	8913	CACNA1G	OMIM:618087
HP:0012639	Abnormal nervous system morphology	116228	COX20	OMIM:619054
HP:0012639	Abnormal nervous system morphology	7518	XRCC4	OMIM:616541
HP:0012639	Abnormal nervous system morphology	23203	PMPCA	OMIM:213200
HP:0012639	Abnormal nervous system morphology	23203	PMPCA	ORPHA:1170
HP:0012639	Abnormal nervous system morphology	57410	SCYL1	ORPHA:466794
HP:0012639	Abnormal nervous system morphology	57410	SCYL1	OMIM:616719
HP:0012639	Abnormal nervous system morphology	54936	ADPRS	OMIM:618170
HP:0012639	Abnormal nervous system morphology	27072	VPS41	OMIM:619389
HP:0012639	Abnormal nervous system morphology	79152	FA2H	ORPHA:329308
HP:0012639	Abnormal nervous system morphology	84188	FAR1	OMIM:616154
HP:0012639	Abnormal nervous system morphology	547	KIF1A	OMIM:614255
HP:0012639	Abnormal nervous system morphology	5981	RFC1	OMIM:614575
HP:0012639	Abnormal nervous system morphology	2705	GJB1	ORPHA:1175
HP:0012639	Abnormal nervous system morphology	4976	OPA1	OMIM:210000
HP:0012639	Abnormal nervous system morphology	267010	RNU12	ORPHA:512260
HP:0012639	Abnormal nervous system morphology	57688	ZSWIM6	ORPHA:1827
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	OMIM:610828
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	OMIM:615465
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	ORPHA:2117
HP:0012639	Abnormal nervous system morphology	84314	TMEM107	ORPHA:564
HP:0012639	Abnormal nervous system morphology	26123	TCTN3	ORPHA:564
HP:0012639	Abnormal nervous system morphology	79867	TCTN2	ORPHA:564
HP:0012639	Abnormal nervous system morphology	80776	B9D2	ORPHA:564
HP:0012639	Abnormal nervous system morphology	79600	TCTN1	ORPHA:564
HP:0012639	Abnormal nervous system morphology	57096	RPGRIP1	ORPHA:564
HP:0012639	Abnormal nervous system morphology	79848	CSPP1	ORPHA:564
HP:0012639	Abnormal nervous system morphology	80184	CEP290	ORPHA:564
HP:0012639	Abnormal nervous system morphology	51259	TMEM216	ORPHA:564
HP:0012639	Abnormal nervous system morphology	57545	CC2D2A	ORPHA:564
HP:0012639	Abnormal nervous system morphology	79583	TMEM231	ORPHA:564
HP:0012639	Abnormal nervous system morphology	91147	TMEM67	ORPHA:564
HP:0012639	Abnormal nervous system morphology	79770	TXNDC15	ORPHA:564
HP:0012639	Abnormal nervous system morphology	27077	B9D1	ORPHA:564
HP:0012639	Abnormal nervous system morphology	23322	RPGRIP1L	ORPHA:564
HP:0012639	Abnormal nervous system morphology	54903	MKS1	ORPHA:564
HP:0012639	Abnormal nervous system morphology	65062	TMEM237	ORPHA:564
HP:0012639	Abnormal nervous system morphology	5885	RAD21	OMIM:614701
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	OMIM:609637
HP:0012639	Abnormal nervous system morphology	25914	RTTN	ORPHA:468631
HP:0012639	Abnormal nervous system morphology	23019	CNOT1	OMIM:618500
HP:0012639	Abnormal nervous system morphology	114803	MYSM1	ORPHA:508542
HP:0012639	Abnormal nervous system morphology	80347	COASY	OMIM:618266
HP:0012639	Abnormal nervous system morphology	476	ATP1A1	ORPHA:564178
HP:0012639	Abnormal nervous system morphology	55733	HHAT	ORPHA:1422
HP:0012639	Abnormal nervous system morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012639	Abnormal nervous system morphology	9928	KIF14	OMIM:616258
HP:0012639	Abnormal nervous system morphology	56270	WDR45B	OMIM:617977
HP:0012639	Abnormal nervous system morphology	3295	HSD17B4	OMIM:261515
HP:0012639	Abnormal nervous system morphology	26227	PHGDH	ORPHA:79351
HP:0012639	Abnormal nervous system morphology	701	BUB1B	OMIM:257300
HP:0012639	Abnormal nervous system morphology	2639	GCDH	OMIM:231670
HP:0012639	Abnormal nervous system morphology	440193	CCDC88C	OMIM:616053
HP:0012639	Abnormal nervous system morphology	440193	CCDC88C	ORPHA:423275
HP:0012639	Abnormal nervous system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012639	Abnormal nervous system morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012639	Abnormal nervous system morphology	529	ATP6V1E1	ORPHA:357074
HP:0012639	Abnormal nervous system morphology	123606	NIPA1	ORPHA:261183
HP:0012639	Abnormal nervous system morphology	81614	NIPA2	ORPHA:261183
HP:0012639	Abnormal nervous system morphology	79989	IFT56	OMIM:619534
HP:0012639	Abnormal nervous system morphology	5575	PRKAR1B	ORPHA:412066
HP:0012639	Abnormal nervous system morphology	478	ATP1A3	OMIM:619606
HP:0012639	Abnormal nervous system morphology	2729	GCLC	OMIM:230450
HP:0012639	Abnormal nervous system morphology	90161	HS6ST2	OMIM:301025
HP:0012639	Abnormal nervous system morphology	129685	TAF8	OMIM:619972
HP:0012639	Abnormal nervous system morphology	80311	KLHL15	OMIM:300982
HP:0012639	Abnormal nervous system morphology	200734	SPRED2	OMIM:619745
HP:0012639	Abnormal nervous system morphology	284252	KCTD1	OMIM:181270
HP:0012639	Abnormal nervous system morphology	1523	CUX1	OMIM:618330
HP:0012639	Abnormal nervous system morphology	1075	CTSC	OMIM:245000
HP:0012639	Abnormal nervous system morphology	80267	EDEM3	OMIM:619493
HP:0012639	Abnormal nervous system morphology	57505	AARS2	OMIM:615889
HP:0012639	Abnormal nervous system morphology	9692	PRORP	OMIM:619737
HP:0012639	Abnormal nervous system morphology	205327	C2orf69	OMIM:619423
HP:0012639	Abnormal nervous system morphology	5283	PIGH	OMIM:618010
HP:0012639	Abnormal nervous system morphology	3313	HSPA9	OMIM:616854
HP:0012639	Abnormal nervous system morphology	1642	DDB1	OMIM:619426
HP:0012639	Abnormal nervous system morphology	4713	NDUFB7	OMIM:620135
HP:0012639	Abnormal nervous system morphology	10528	NOP56	ORPHA:276198
HP:0012639	Abnormal nervous system morphology	64856	VWA1	OMIM:619216
HP:0012639	Abnormal nervous system morphology	29926	GMPPA	ORPHA:869
HP:0012639	Abnormal nervous system morphology	8086	AAAS	ORPHA:869
HP:0012639	Abnormal nervous system morphology	8086	AAAS	OMIM:231550
HP:0012639	Abnormal nervous system morphology	57599	WDR48	ORPHA:401800
HP:0012639	Abnormal nervous system morphology	7504	XK	OMIM:300842
HP:0012639	Abnormal nervous system morphology	51305	KCNK9	ORPHA:166108
HP:0012639	Abnormal nervous system morphology	7453	WARS1	OMIM:617721
HP:0012639	Abnormal nervous system morphology	3035	HARS1	ORPHA:488333
HP:0012639	Abnormal nervous system morphology	3145	HMBS	ORPHA:79276
HP:0012639	Abnormal nervous system morphology	9517	SPTLC2	ORPHA:36386
HP:0012639	Abnormal nervous system morphology	51099	ABHD5	ORPHA:98907
HP:0012639	Abnormal nervous system morphology	2314	FLII	ORPHA:819
HP:0012639	Abnormal nervous system morphology	23096	IQSEC2	ORPHA:819
HP:0012639	Abnormal nervous system morphology	10522	DEAF1	ORPHA:819
HP:0012639	Abnormal nervous system morphology	55901	THSD1	OMIM:618734
HP:0012639	Abnormal nervous system morphology	55901	THSD1	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	7049	TGFBR3	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	1281	COL3A1	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	83854	ANGPTL6	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	2022	ENG	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	6662	SOX9	ORPHA:140
HP:0012639	Abnormal nervous system morphology	8622	PDE8B	OMIM:609161
HP:0012639	Abnormal nervous system morphology	4261	CIITA	OMIM:209920
HP:0012639	Abnormal nervous system morphology	5994	RFXAP	OMIM:209920
HP:0012639	Abnormal nervous system morphology	5993	RFX5	OMIM:209920
HP:0012639	Abnormal nervous system morphology	8625	RFXANK	OMIM:209920
HP:0012639	Abnormal nervous system morphology	8635	RNASET2	OMIM:612951
HP:0012639	Abnormal nervous system morphology	5286	PIK3C2A	ORPHA:557003
HP:0012639	Abnormal nervous system morphology	545	ATR	OMIM:210600
HP:0012639	Abnormal nervous system morphology	10166	SLC25A15	ORPHA:415
HP:0012639	Abnormal nervous system morphology	112755	STX1B	ORPHA:36387
HP:0012639	Abnormal nervous system morphology	84059	ADGRV1	ORPHA:36387
HP:0012639	Abnormal nervous system morphology	26173	INTS1	OMIM:618571
HP:0012639	Abnormal nervous system morphology	2911	GRM1	OMIM:614831
HP:0012639	Abnormal nervous system morphology	51780	KDM3B	OMIM:618846
HP:0012639	Abnormal nervous system morphology	113246	C12orf57	OMIM:218340
HP:0012639	Abnormal nervous system morphology	4953	ODC1	ORPHA:544488
HP:0012639	Abnormal nervous system morphology	80036	TRPM3	OMIM:620224
HP:0012639	Abnormal nervous system morphology	10283	CWC27	ORPHA:166035
HP:0012639	Abnormal nervous system morphology	9772	TMEM94	OMIM:618316
HP:0012639	Abnormal nervous system morphology	5076	PAX2	OMIM:120330
HP:0012639	Abnormal nervous system morphology	7319	UBE2A	OMIM:300860
HP:0012639	Abnormal nervous system morphology	7319	UBE2A	ORPHA:163956
HP:0012639	Abnormal nervous system morphology	135	ADORA2A	ORPHA:363549
HP:0012639	Abnormal nervous system morphology	4126	MANBA	OMIM:248510
HP:0012639	Abnormal nervous system morphology	9817	KEAP1	ORPHA:276399
HP:0012639	Abnormal nervous system morphology	57107	PDSS2	ORPHA:255249
HP:0012639	Abnormal nervous system morphology	57107	PDSS2	OMIM:614652
HP:0012639	Abnormal nervous system morphology	84570	COL25A1	ORPHA:91411
HP:0012639	Abnormal nervous system morphology	79776	ZFHX4	ORPHA:91411
HP:0012639	Abnormal nervous system morphology	3949	LDLR	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	255738	PCSK9	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	26119	LDLRAP1	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	338	APOB	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	64240	ABCG5	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	64241	ABCG8	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	54453	RIN2	OMIM:613075
HP:0012639	Abnormal nervous system morphology	8600	TNFSF11	OMIM:259710
HP:0012639	Abnormal nervous system morphology	85465	SELENOI	ORPHA:506353
HP:0012639	Abnormal nervous system morphology	4125	MAN2B1	OMIM:248500
HP:0012639	Abnormal nervous system morphology	5654	HTRA1	OMIM:616779
HP:0012639	Abnormal nervous system morphology	4803	NGF	ORPHA:64752
HP:0012639	Abnormal nervous system morphology	4914	NTRK1	ORPHA:64752
HP:0012639	Abnormal nervous system morphology	4914	NTRK1	OMIM:256800
HP:0012639	Abnormal nervous system morphology	6310	ATXN1	OMIM:164400
HP:0012639	Abnormal nervous system morphology	1513	CTSK	ORPHA:763
HP:0012639	Abnormal nervous system morphology	404672	GTF2H5	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	2068	ERCC2	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	136647	MPLKIP	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	6897	TARS1	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	2071	ERCC3	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	2961	GTF2E2	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	57192	MCOLN1	OMIM:252650
HP:0012639	Abnormal nervous system morphology	84342	COG8	ORPHA:95428
HP:0012639	Abnormal nervous system morphology	3315	HSPB1	OMIM:606595
HP:0012639	Abnormal nervous system morphology	3766	KCNJ10	OMIM:612780
HP:0012639	Abnormal nervous system morphology	3561	IL2RG	OMIM:300400
HP:0012639	Abnormal nervous system morphology	51	ACOX1	OMIM:264470
HP:0012639	Abnormal nervous system morphology	1436	CSF1R	OMIM:221820
HP:0012639	Abnormal nervous system morphology	4547	MTTP	OMIM:200100
HP:0012639	Abnormal nervous system morphology	7143	TNR	OMIM:619653
HP:0012639	Abnormal nervous system morphology	5173	PDYN	OMIM:610245
HP:0012639	Abnormal nervous system morphology	2744	GLS	OMIM:618328
HP:0012639	Abnormal nervous system morphology	3643	INSR	ORPHA:769
HP:0012639	Abnormal nervous system morphology	4143	MAT1A	OMIM:250850
HP:0012639	Abnormal nervous system morphology	285362	SUMF1	OMIM:272200
HP:0012639	Abnormal nervous system morphology	224	ALDH3A2	OMIM:270200
HP:0012639	Abnormal nervous system morphology	5551	PRF1	OMIM:603553
HP:0012639	Abnormal nervous system morphology	3119	HLA-DQB1	OMIM:126200
HP:0012639	Abnormal nervous system morphology	5133	PDCD1	OMIM:126200
HP:0012639	Abnormal nervous system morphology	3123	HLA-DRB1	OMIM:126200
HP:0012639	Abnormal nervous system morphology	2720	GLB1	OMIM:230500
HP:0012639	Abnormal nervous system morphology	25939	SAMHD1	OMIM:612952
HP:0012639	Abnormal nervous system morphology	540	ATP7B	OMIM:277900
HP:0012639	Abnormal nervous system morphology	4747	NEFL	ORPHA:101085
HP:0012639	Abnormal nervous system morphology	7277	TUBA4A	OMIM:616208
HP:0012639	Abnormal nervous system morphology	51114	ZDHHC9	ORPHA:776
HP:0012639	Abnormal nervous system morphology	65109	UPF3B	ORPHA:776
HP:0012639	Abnormal nervous system morphology	79639	TMEM53	OMIM:619727
HP:0012639	Abnormal nervous system morphology	1593	CYP27A1	ORPHA:909
HP:0012639	Abnormal nervous system morphology	10312	TCIRG1	ORPHA:210110
HP:0012639	Abnormal nervous system morphology	1186	CLCN7	ORPHA:210110
HP:0012639	Abnormal nervous system morphology	9842	PLEKHM1	ORPHA:210110
HP:0012639	Abnormal nervous system morphology	389692	MAFA	OMIM:147630
HP:0012639	Abnormal nervous system morphology	1621	DBH	OMIM:223360
HP:0012639	Abnormal nervous system morphology	3972	LHB	OMIM:228300
HP:0012639	Abnormal nervous system morphology	254394	MCM9	OMIM:616185
HP:0012639	Abnormal nervous system morphology	84733	CBX2	OMIM:613080
HP:0012639	Abnormal nervous system morphology	4439	MSH5	OMIM:617442
HP:0012639	Abnormal nervous system morphology	158401	SHOC1	OMIM:619949
HP:0012639	Abnormal nervous system morphology	7200	TRH	OMIM:275120
HP:0012639	Abnormal nervous system morphology	3952	LEP	ORPHA:66628
HP:0012639	Abnormal nervous system morphology	1690	COCH	OMIM:601369
HP:0012639	Abnormal nervous system morphology	4437	MSH3	OMIM:617100
HP:0012639	Abnormal nervous system morphology	4437	MSH3	ORPHA:480536
HP:0012639	Abnormal nervous system morphology	79621	RNASEH2B	ORPHA:51
HP:0012639	Abnormal nervous system morphology	100147744	RNU7-1	ORPHA:51
HP:0012639	Abnormal nervous system morphology	134353	LSM11	ORPHA:51
HP:0012639	Abnormal nervous system morphology	64135	IFIH1	ORPHA:51
HP:0012639	Abnormal nervous system morphology	7428	VHL	ORPHA:892
HP:0012639	Abnormal nervous system morphology	7428	VHL	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	7428	VHL	OMIM:193300
HP:0012639	Abnormal nervous system morphology	595	CCND1	ORPHA:892
HP:0012639	Abnormal nervous system morphology	595	CCND1	OMIM:193300
HP:0012639	Abnormal nervous system morphology	1743	DLST	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	5979	RET	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	23095	KIF1B	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	8402	SLC25A11	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	54949	SDHAF2	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	55654	TMEM127	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	6391	SDHC	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	6392	SDHD	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	6390	SDHB	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	4149	MAX	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	4292	MLH1	OMIM:276300
HP:0012639	Abnormal nervous system morphology	25913	POT1	OMIM:616568
HP:0012639	Abnormal nervous system morphology	324	APC	ORPHA:99818
HP:0012639	Abnormal nervous system morphology	11200	CHEK2	OMIM:609265
HP:0012639	Abnormal nervous system morphology	161742	SPRED1	ORPHA:137605
HP:0012639	Abnormal nervous system morphology	2303	FOXC2	ORPHA:33001
HP:0012639	Abnormal nervous system morphology	84065	TMEM222	OMIM:619470
HP:0012639	Abnormal nervous system morphology	55627	SMPD4	OMIM:618622
HP:0012639	Abnormal nervous system morphology	116115	ZNF526	OMIM:619877
HP:0012639	Abnormal nervous system morphology	1457	CSNK2A1	OMIM:617062
HP:0012639	Abnormal nervous system morphology	1062	CENPE	OMIM:616051
HP:0012639	Abnormal nervous system morphology	22983	MAST1	OMIM:618273
HP:0012639	Abnormal nervous system morphology	387787	LIPT2	OMIM:617668
HP:0012639	Abnormal nervous system morphology	10293	TRAIP	OMIM:616777
HP:0012639	Abnormal nervous system morphology	2067	ERCC1	OMIM:610758
HP:0012639	Abnormal nervous system morphology	84823	LMNB2	OMIM:616540
HP:0012639	Abnormal nervous system morphology	84823	LMNB2	OMIM:619180
HP:0012639	Abnormal nervous system morphology	6597	SMARCA4	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6659	SOX4	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	8289	ARID1A	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	5977	DPF2	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6602	SMARCD1	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	7436	VLDLR	OMIM:224050
HP:0012639	Abnormal nervous system morphology	84081	NSRP1	OMIM:620001
HP:0012639	Abnormal nervous system morphology	51645	PPIL1	OMIM:619301
HP:0012639	Abnormal nervous system morphology	51362	CDC40	OMIM:619302
HP:0012639	Abnormal nervous system morphology	3832	KIF11	OMIM:152950
HP:0012639	Abnormal nervous system morphology	29980	DONSON	OMIM:617604
HP:0012639	Abnormal nervous system morphology	29980	DONSON	OMIM:251230
HP:0012639	Abnormal nervous system morphology	3835	KIF22	OMIM:603546
HP:0012639	Abnormal nervous system morphology	2627	GATA6	ORPHA:2255
HP:0012639	Abnormal nervous system morphology	55599	RNPC3	OMIM:618160
HP:0012639	Abnormal nervous system morphology	55131	RBM28	ORPHA:157954
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:177904
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:177901
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:98754
HP:0012639	Abnormal nervous system morphology	2688	GH1	OMIM:173100
HP:0012639	Abnormal nervous system morphology	2692	GHRHR	OMIM:618157
HP:0012639	Abnormal nervous system morphology	283987	HID1	OMIM:619983
HP:0012639	Abnormal nervous system morphology	2673	GFPT1	OMIM:608931
HP:0012639	Abnormal nervous system morphology	2673	GFPT1	ORPHA:353327
HP:0012639	Abnormal nervous system morphology	2673	GFPT1	OMIM:610542
HP:0012639	Abnormal nervous system morphology	1145	CHRNE	OMIM:608931
HP:0012639	Abnormal nervous system morphology	1145	CHRNE	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1291	COL6A1	OMIM:254090
HP:0012639	Abnormal nervous system morphology	1292	COL6A2	OMIM:254090
HP:0012639	Abnormal nervous system morphology	1292	COL6A2	OMIM:255600
HP:0012639	Abnormal nervous system morphology	1293	COL6A3	OMIM:254090
HP:0012639	Abnormal nervous system morphology	1144	CHRND	OMIM:616322
HP:0012639	Abnormal nervous system morphology	1144	CHRND	OMIM:616323
HP:0012639	Abnormal nervous system morphology	1144	CHRND	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	56172	ANKH	ORPHA:1522
HP:0012639	Abnormal nervous system morphology	56172	ANKH	OMIM:123000
HP:0012639	Abnormal nervous system morphology	4593	MUSK	OMIM:616325
HP:0012639	Abnormal nervous system morphology	4593	MUSK	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	4038	LRP4	OMIM:614305
HP:0012639	Abnormal nervous system morphology	4038	LRP4	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	4038	LRP4	ORPHA:3152
HP:0012639	Abnormal nervous system morphology	1134	CHRNA1	OMIM:608930
HP:0012639	Abnormal nervous system morphology	1134	CHRNA1	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	825	CAPN3	OMIM:253600
HP:0012639	Abnormal nervous system morphology	57167	SALL4	OMIM:607323
HP:0012639	Abnormal nervous system morphology	79581	SLC52A2	OMIM:614707
HP:0012639	Abnormal nervous system morphology	10049	DNAJB6	OMIM:603511
HP:0012639	Abnormal nervous system morphology	1120	CHKB	OMIM:602541
HP:0012639	Abnormal nervous system morphology	29887	SNX10	OMIM:615085
HP:0012639	Abnormal nervous system morphology	92667	MGME1	OMIM:615084
HP:0012639	Abnormal nervous system morphology	9790	BMS1	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	5339	PLEC	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	10054	UBA2	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	3691	ITGB4	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	4041	LRP5	ORPHA:3416
HP:0012639	Abnormal nervous system morphology	4041	LRP5	ORPHA:2790
HP:0012639	Abnormal nervous system morphology	4041	LRP5	ORPHA:178377
HP:0012639	Abnormal nervous system morphology	84466	MEGF10	OMIM:614399
HP:0012639	Abnormal nervous system morphology	4625	MYH7	OMIM:160500
HP:0012639	Abnormal nervous system morphology	4625	MYH7	ORPHA:437572
HP:0012639	Abnormal nervous system morphology	389827	MYMK	ORPHA:1358
HP:0012639	Abnormal nervous system morphology	389827	MYMK	OMIM:254940
HP:0012639	Abnormal nervous system morphology	101929726	MYMX	ORPHA:1358
HP:0012639	Abnormal nervous system morphology	427	ASAH1	OMIM:159950
HP:0012639	Abnormal nervous system morphology	57190	SELENON	OMIM:602771
HP:0012639	Abnormal nervous system morphology	51816	ADA2	OMIM:182410
HP:0012639	Abnormal nervous system morphology	5980	REV3L	ORPHA:570
HP:0012639	Abnormal nervous system morphology	23129	PLXND1	ORPHA:570
HP:0012639	Abnormal nervous system morphology	2483	FRG1	OMIM:158900
HP:0012639	Abnormal nervous system morphology	22954	TRIM32	OMIM:254110
HP:0012639	Abnormal nervous system morphology	56244	BTNL2	OMIM:612387
HP:0012639	Abnormal nervous system morphology	56244	BTNL2	ORPHA:797
HP:0012639	Abnormal nervous system morphology	29967	LRP12	OMIM:164310
HP:0012639	Abnormal nervous system morphology	10020	GNE	ORPHA:602
HP:0012639	Abnormal nervous system morphology	7020	TFAP2A	OMIM:113620
HP:0012639	Abnormal nervous system morphology	1303	COL12A1	OMIM:616470
HP:0012639	Abnormal nervous system morphology	139285	AMER1	ORPHA:2780
HP:0012639	Abnormal nervous system morphology	139285	AMER1	OMIM:300373
HP:0012639	Abnormal nervous system morphology	9531	BAG3	OMIM:612954
HP:0012639	Abnormal nervous system morphology	9244	CRLF1	OMIM:272430
HP:0012639	Abnormal nervous system morphology	84617	TUBB6	OMIM:617732
HP:0012639	Abnormal nervous system morphology	9791	PTDSS1	ORPHA:2658
HP:0012639	Abnormal nervous system morphology	3211	HOXB1	OMIM:614744
HP:0012639	Abnormal nervous system morphology	4534	MTM1	OMIM:310400
HP:0012639	Abnormal nervous system morphology	8085	KMT2D	OMIM:620186
HP:0012639	Abnormal nervous system morphology	147912	SIX5	ORPHA:107
HP:0012639	Abnormal nervous system morphology	8898	MTMR2	OMIM:601382
HP:0012639	Abnormal nervous system morphology	64419	MTMR14	OMIM:160150
HP:0012639	Abnormal nervous system morphology	2934	GSN	ORPHA:85448
HP:0012639	Abnormal nervous system morphology	1674	DES	OMIM:601419
HP:0012639	Abnormal nervous system morphology	8292	COLQ	ORPHA:98915
HP:0012639	Abnormal nervous system morphology	3913	LAMB2	ORPHA:98915
HP:0012639	Abnormal nervous system morphology	6444	SGCD	ORPHA:219
HP:0012639	Abnormal nervous system morphology	8106	PABPN1	OMIM:164300
HP:0012639	Abnormal nervous system morphology	6329	SCN4A	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1140	CHRNB1	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1140	CHRNB1	OMIM:616313
HP:0012639	Abnormal nervous system morphology	5913	RAPSN	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	221264	AK9	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	285489	DOK7	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	84168	ANTXR1	OMIM:230740
HP:0012639	Abnormal nervous system morphology	57731	SPTBN4	OMIM:617519
HP:0012639	Abnormal nervous system morphology	64127	NOD2	ORPHA:90340
HP:0012639	Abnormal nervous system morphology	4633	MYL2	OMIM:619424
HP:0012639	Abnormal nervous system morphology	29089	UBE2T	OMIM:616435
HP:0012639	Abnormal nervous system morphology	203859	ANO5	OMIM:611307
HP:0012639	Abnormal nervous system morphology	203859	ANO5	ORPHA:206549
HP:0012639	Abnormal nervous system morphology	1861	TOR1A	OMIM:128100
HP:0012639	Abnormal nervous system morphology	59341	TRPV4	OMIM:181405
HP:0012639	Abnormal nervous system morphology	2018	EMX2	OMIM:269160
HP:0012639	Abnormal nervous system morphology	7471	WNT1	OMIM:615220
HP:0012639	Abnormal nervous system morphology	1284	COL4A2	OMIM:614483
HP:0012639	Abnormal nervous system morphology	6804	STX1A	ORPHA:904
HP:0012639	Abnormal nervous system morphology	7461	CLIP2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	84277	DNAJC30	ORPHA:904
HP:0012639	Abnormal nervous system morphology	8468	FKBP6	ORPHA:904
HP:0012639	Abnormal nervous system morphology	5982	RFC2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	2969	GTF2I	ORPHA:904
HP:0012639	Abnormal nervous system morphology	3984	LIMK1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	155382	VPS37D	ORPHA:904
HP:0012639	Abnormal nervous system morphology	155368	METTL27	ORPHA:904
HP:0012639	Abnormal nervous system morphology	114049	BUD23	ORPHA:904
HP:0012639	Abnormal nervous system morphology	7458	EIF4H	ORPHA:904
HP:0012639	Abnormal nervous system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	9275	BCL7B	ORPHA:904
HP:0012639	Abnormal nervous system morphology	26608	TBL2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	653361	NCF1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	135886	TMEM270	ORPHA:904
HP:0012639	Abnormal nervous system morphology	51085	MLXIPL	ORPHA:904
HP:0012639	Abnormal nervous system morphology	9031	BAZ1B	ORPHA:904
HP:0012639	Abnormal nervous system morphology	4693	NDP	ORPHA:649
HP:0012639	Abnormal nervous system morphology	5903	RANBP2	ORPHA:88619
HP:0012639	Abnormal nervous system morphology	55209	SETD5	ORPHA:404440
HP:0012639	Abnormal nervous system morphology	55252	ASXL2	OMIM:617190
HP:0012639	Abnormal nervous system morphology	51021	MRPS16	OMIM:610498
HP:0012639	Abnormal nervous system morphology	9578	CDC42BPB	OMIM:619841
HP:0012639	Abnormal nervous system morphology	3458	IFNG	ORPHA:805
HP:0012639	Abnormal nervous system morphology	29998	BICRA	OMIM:619325
HP:0012639	Abnormal nervous system morphology	6599	SMARCC1	OMIM:620241
HP:0012639	Abnormal nervous system morphology	10229	COQ7	OMIM:616733
HP:0012639	Abnormal nervous system morphology	5238	PGM3	OMIM:615816
HP:0012639	Abnormal nervous system morphology	9918	NCAPD2	OMIM:617983
HP:0012639	Abnormal nervous system morphology	1984	EIF5A	OMIM:619376
HP:0012639	Abnormal nervous system morphology	6045	RNF2	OMIM:619460
HP:0012639	Abnormal nervous system morphology	4905	NSF	OMIM:619340
HP:0012639	Abnormal nervous system morphology	3712	IVD	OMIM:243500
HP:0012639	Abnormal nervous system morphology	9095	TBX19	OMIM:201400
HP:0012639	Abnormal nervous system morphology	5456	POU3F4	ORPHA:1435
HP:0012639	Abnormal nervous system morphology	84133	ZNRF3	ORPHA:1501
HP:0012639	Abnormal nervous system morphology	7157	TP53	ORPHA:1501
HP:0012639	Abnormal nervous system morphology	1029	CDKN2A	ORPHA:1501
HP:0012639	Abnormal nervous system morphology	1583	CYP11A1	ORPHA:289548
HP:0012639	Abnormal nervous system morphology	1583	CYP11A1	ORPHA:168558
HP:0012639	Abnormal nervous system morphology	1583	CYP11A1	OMIM:613743
HP:0012639	Abnormal nervous system morphology	3284	HSD3B2	ORPHA:90791
HP:0012639	Abnormal nervous system morphology	4173	MCM4	OMIM:609981
HP:0012639	Abnormal nervous system morphology	1586	CYP17A1	ORPHA:90793
HP:0012639	Abnormal nervous system morphology	2077	ERF	OMIM:600775
HP:0012639	Abnormal nervous system morphology	6926	TBX3	OMIM:181450
HP:0012639	Abnormal nervous system morphology	6091	ROBO1	ORPHA:95496
HP:0012639	Abnormal nervous system morphology	23432	GPR161	ORPHA:95496
HP:0012639	Abnormal nervous system morphology	9049	AIP	ORPHA:99725
HP:0012639	Abnormal nervous system morphology	9049	AIP	ORPHA:963
HP:0012639	Abnormal nervous system morphology	9049	AIP	OMIM:102200
HP:0012639	Abnormal nervous system morphology	83550	GPR101	ORPHA:963
HP:0012639	Abnormal nervous system morphology	50940	PDE11A	ORPHA:1359
HP:0012639	Abnormal nervous system morphology	4221	MEN1	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1027	CDKN1B	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1026	CDKN1A	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1030	CDKN2B	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1031	CDKN2C	ORPHA:652
HP:0012639	Abnormal nervous system morphology	5660	PSAP	OMIM:610539
HP:0012639	Abnormal nervous system morphology	80222	TARS2	OMIM:615918
HP:0012639	Abnormal nervous system morphology	30813	VSX1	OMIM:614195
HP:0012639	Abnormal nervous system morphology	4287	ATXN3	ORPHA:276238
HP:0012639	Abnormal nervous system morphology	4287	ATXN3	ORPHA:276244
HP:0012639	Abnormal nervous system morphology	4287	ATXN3	ORPHA:276241
HP:0012639	Abnormal nervous system morphology	2245	FGD1	OMIM:305400
HP:0012639	Abnormal nervous system morphology	286053	NSMCE2	OMIM:617253
HP:0012639	Abnormal nervous system morphology	1730	DIAPH2	OMIM:300511
HP:0012639	Abnormal nervous system morphology	2100	ESR2	OMIM:618187
HP:0012639	Abnormal nervous system morphology	4438	MSH4	OMIM:619938
HP:0012639	Abnormal nervous system morphology	8192	CLPP	OMIM:614129
HP:0012639	Abnormal nervous system morphology	84515	MCM8	OMIM:612885
HP:0012639	Abnormal nervous system morphology	658	BMPR1B	OMIM:609441
HP:0012639	Abnormal nervous system morphology	5447	POR	ORPHA:95699
HP:0012639	Abnormal nervous system morphology	367	AR	OMIM:300068
HP:0012639	Abnormal nervous system morphology	367	AR	ORPHA:90797
HP:0012639	Abnormal nervous system morphology	367	AR	ORPHA:99429
HP:0012639	Abnormal nervous system morphology	93953	GCNA	OMIM:301077
HP:0012639	Abnormal nervous system morphology	2661	GDF9	OMIM:618014
HP:0012639	Abnormal nervous system morphology	317761	C14orf39	OMIM:619203
HP:0012639	Abnormal nervous system morphology	55012	PPP2R3C	OMIM:618419
HP:0012639	Abnormal nervous system morphology	344018	FIGLA	OMIM:612310
HP:0012639	Abnormal nervous system morphology	164045	HFM1	OMIM:615724
HP:0012639	Abnormal nervous system morphology	84634	KISS1R	OMIM:176400
HP:0012639	Abnormal nervous system morphology	10734	STAG3	OMIM:615723
HP:0012639	Abnormal nervous system morphology	2488	FSHB	OMIM:229070
HP:0012639	Abnormal nervous system morphology	10015	PDCD6IP	OMIM:620047
HP:0012639	Abnormal nervous system morphology	8676	STX11	ORPHA:540
HP:0012639	Abnormal nervous system morphology	201294	UNC13D	ORPHA:540
HP:0012639	Abnormal nervous system morphology	6813	STXBP2	ORPHA:540
HP:0012639	Abnormal nervous system morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0012639	Abnormal nervous system morphology	10735	STAG2	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	10735	STAG2	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	8243	SMC1A	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	6491	STIL	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6491	STIL	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6491	STIL	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6491	STIL	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	2736	GLI2	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2736	GLI2	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	2736	GLI2	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2736	GLI2	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	8314	BAP1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	4771	NF2	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	6598	SMARCB1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	84231	TRAF7	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	6608	SMO	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	207	AKT1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	5290	PIK3CA	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	7015	TERT	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	6605	SMARCE1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	23007	PLCH1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	3953	LEPR	OMIM:614963
HP:0012639	Abnormal nervous system morphology	1499	CTNNB1	ORPHA:54595
HP:0012639	Abnormal nervous system morphology	673	BRAF	ORPHA:54595
HP:0012639	Abnormal nervous system morphology	6492	SIM1	ORPHA:398079
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	ORPHA:398069
HP:0012639	Abnormal nervous system morphology	8022	LHX3	ORPHA:231720
HP:0012639	Abnormal nervous system morphology	10525	HYOU1	OMIM:233600
HP:0012639	Abnormal nervous system morphology	3071	NCKAP1L	OMIM:618982
HP:0012639	Abnormal nervous system morphology	677814	SNORA31	OMIM:619396
HP:0012639	Abnormal nervous system morphology	6660	SOX5	ORPHA:313892
HP:0012639	Abnormal nervous system morphology	6341	SCO1	OMIM:619048
HP:0012639	Abnormal nervous system morphology	56479	KCNQ5	OMIM:617601
HP:0012639	Abnormal nervous system morphology	51241	COX16	OMIM:619355
HP:0012639	Abnormal nervous system morphology	10846	PDE10A	ORPHA:494526
HP:0012639	Abnormal nervous system morphology	9829	DNAJC6	ORPHA:391411
HP:0012639	Abnormal nervous system morphology	5420	PODXL	ORPHA:391411
HP:0012639	Abnormal nervous system morphology	51611	DPH5	OMIM:620070
HP:0012639	Abnormal nervous system morphology	57570	TRMT5	OMIM:616539
HP:0012639	Abnormal nervous system morphology	50640	PNPLA8	OMIM:251950
HP:0012639	Abnormal nervous system morphology	4141	MARS1	ORPHA:401835
HP:0012639	Abnormal nervous system morphology	55904	KMT2E	OMIM:618512
HP:0012639	Abnormal nervous system morphology	6857	SYT1	ORPHA:522077
HP:0012639	Abnormal nervous system morphology	5058	PAK1	OMIM:618158
HP:0012639	Abnormal nervous system morphology	51284	TLR7	OMIM:301080
HP:0012639	Abnormal nervous system morphology	22827	PUF60	ORPHA:508498
HP:0012639	Abnormal nervous system morphology	79971	WLS	OMIM:619648
HP:0012639	Abnormal nervous system morphology	4629	MYH11	OMIM:132900
HP:0012639	Abnormal nervous system morphology	6477	SIAH1	OMIM:619314
HP:0012639	Abnormal nervous system morphology	1384	CRAT	OMIM:617917
HP:0012639	Abnormal nervous system morphology	57104	PNPLA2	ORPHA:98908
HP:0012639	Abnormal nervous system morphology	11023	VAX1	OMIM:614402
HP:0012639	Abnormal nervous system morphology	6342	SCP2	OMIM:613724
HP:0012639	Abnormal nervous system morphology	9440	MED17	OMIM:613668
HP:0012639	Abnormal nervous system morphology	56947	MFF	ORPHA:485421
HP:0012639	Abnormal nervous system morphology	26275	HIBCH	ORPHA:88639
HP:0012639	Abnormal nervous system morphology	23474	ETHE1	ORPHA:51188
HP:0012639	Abnormal nervous system morphology	10398	MYL9	OMIM:619365
HP:0012639	Abnormal nervous system morphology	9839	ZEB2	ORPHA:261537
HP:0012639	Abnormal nervous system morphology	9839	ZEB2	ORPHA:261552
HP:0012639	Abnormal nervous system morphology	9839	ZEB2	OMIM:235730
HP:0012639	Abnormal nervous system morphology	23230	VPS13A	ORPHA:2388
HP:0012639	Abnormal nervous system morphology	7025	NR2F1	ORPHA:401777
HP:0012639	Abnormal nervous system morphology	57465	TBC1D24	ORPHA:352582
HP:0012639	Abnormal nervous system morphology	2902	GRIN1	ORPHA:208447
HP:0012639	Abnormal nervous system morphology	23499	MACF1	ORPHA:572013
HP:0012639	Abnormal nervous system morphology	387119	CEP85L	ORPHA:572013
HP:0012639	Abnormal nervous system morphology	56896	DPYSL5	OMIM:619435
HP:0012639	Abnormal nervous system morphology	6335	SCN9A	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	2554	GABRA1	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	6324	SCN1B	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	57526	PCDH19	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	2566	GABRG2	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	23030	KDM4B	OMIM:619320
HP:0012639	Abnormal nervous system morphology	4522	MTHFD1	OMIM:617780
HP:0012639	Abnormal nervous system morphology	5457	POU4F1	ORPHA:314647
HP:0012639	Abnormal nervous system morphology	22872	SEC31A	OMIM:618651
HP:0012639	Abnormal nervous system morphology	410	ARSA	ORPHA:309271
HP:0012639	Abnormal nervous system morphology	410	ARSA	ORPHA:309263
HP:0012639	Abnormal nervous system morphology	410	ARSA	ORPHA:309256
HP:0012639	Abnormal nervous system morphology	473	RERE	OMIM:616975
HP:0012639	Abnormal nervous system morphology	2642	GCGR	ORPHA:438274
HP:0012639	Abnormal nervous system morphology	5424	POLD1	ORPHA:447877
HP:0012639	Abnormal nervous system morphology	7373	COL14A1	ORPHA:79501
HP:0012639	Abnormal nervous system morphology	79719	AAGAB	ORPHA:79501
HP:0012639	Abnormal nervous system morphology	65998	ZFTA	ORPHA:251636
HP:0012639	Abnormal nervous system morphology	5970	RELA	ORPHA:251636
HP:0012639	Abnormal nervous system morphology	2050	EPHB4	ORPHA:137667
HP:0012639	Abnormal nervous system morphology	2050	EPHB4	OMIM:618196
HP:0012639	Abnormal nervous system morphology	1906	EDN1	ORPHA:137888
HP:0012639	Abnormal nervous system morphology	5332	PLCB4	ORPHA:137888
HP:0012639	Abnormal nervous system morphology	2773	GNAI3	ORPHA:137888
HP:0012639	Abnormal nervous system morphology	2157	F8	ORPHA:169805
HP:0012639	Abnormal nervous system morphology	4774	NFIA	ORPHA:401986
HP:0012639	Abnormal nervous system morphology	55788	LMBRD1	ORPHA:79284
HP:0012639	Abnormal nervous system morphology	284058	KANSL1	ORPHA:363965
HP:0012639	Abnormal nervous system morphology	284058	KANSL1	ORPHA:363958
HP:0012639	Abnormal nervous system morphology	6678	SPARC	OMIM:616507
HP:0012639	Abnormal nervous system morphology	165918	RNF168	ORPHA:420741
HP:0012639	Abnormal nervous system morphology	100131801	PET100	OMIM:619055
HP:0012639	Abnormal nervous system morphology	92935	MARS2	OMIM:616430
HP:0012639	Abnormal nervous system morphology	79853	TM4SF20	OMIM:615432
HP:0012639	Abnormal nervous system morphology	7555	CNBP	OMIM:602668
HP:0012639	Abnormal nervous system morphology	10060	ABCC9	OMIM:619719
HP:0012639	Abnormal nervous system morphology	55768	NGLY1	OMIM:615273
HP:0012639	Abnormal nervous system morphology	3514	IGKC	ORPHA:183675
HP:0012639	Abnormal nervous system morphology	3501	IGHG2	ORPHA:183675
HP:0012639	Abnormal nervous system morphology	213	ALB	OMIM:615999
HP:0012639	Abnormal nervous system morphology	7234	TRU-TCA1-1	OMIM:620198
HP:0012639	Abnormal nervous system morphology	1363	CPE	OMIM:619326
HP:0012639	Abnormal nervous system morphology	100134444	KCNJ18	OMIM:613239
HP:0012639	Abnormal nervous system morphology	1641	DCX	OMIM:300067
HP:0012639	Abnormal nervous system morphology	1641	DCX	ORPHA:2148
HP:0012639	Abnormal nervous system morphology	1020	CDK5	OMIM:616342
HP:0012639	Abnormal nervous system morphology	7283	TUBG1	OMIM:615412
HP:0012639	Abnormal nervous system morphology	3796	KIF2A	OMIM:615411
HP:0012639	Abnormal nervous system morphology	5048	PAFAH1B1	OMIM:607432
HP:0012639	Abnormal nervous system morphology	5048	PAFAH1B1	ORPHA:95232
HP:0012639	Abnormal nervous system morphology	8131	NPRL3	OMIM:617118
HP:0012639	Abnormal nervous system morphology	8131	NPRL3	ORPHA:98820
HP:0012639	Abnormal nervous system morphology	10641	NPRL2	OMIM:617116
HP:0012639	Abnormal nervous system morphology	10641	NPRL2	ORPHA:98820
HP:0012639	Abnormal nervous system morphology	9681	DEPDC5	OMIM:604364
HP:0012639	Abnormal nervous system morphology	9681	DEPDC5	ORPHA:98820
HP:0012639	Abnormal nervous system morphology	23309	SIN3B	ORPHA:500166
HP:0012639	Abnormal nervous system morphology	7276	TTR	OMIM:105210
HP:0012639	Abnormal nervous system morphology	3574	IL7	OMIM:618309
HP:0012639	Abnormal nervous system morphology	22859	ADGRL1	OMIM:620065
HP:0012639	Abnormal nervous system morphology	2065	ERBB3	OMIM:243180
HP:0012639	Abnormal nervous system morphology	2200	FBN1	OMIM:154700
HP:0012639	Abnormal nervous system morphology	8471	IRS4	OMIM:301035
HP:0012639	Abnormal nervous system morphology	6907	TBL1X	OMIM:301033
HP:0012639	Abnormal nervous system morphology	3547	IGSF1	OMIM:300888
HP:0012639	Abnormal nervous system morphology	1000	CDH2	OMIM:618929
HP:0012639	Abnormal nervous system morphology	939	CD27	OMIM:615122
HP:0012639	Abnormal nervous system morphology	490	ATP2B1	OMIM:619910
HP:0012639	Abnormal nervous system morphology	5443	POMC	OMIM:609734
HP:0012639	Abnormal nervous system morphology	5573	PRKAR1A	OMIM:101800
HP:0012639	Abnormal nervous system morphology	6900	CNTN2	OMIM:615400
HP:0012639	Abnormal nervous system morphology	91137	SLC25A46	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	3008	H1-4	OMIM:617537
HP:0012639	Abnormal nervous system morphology	1119	CHKA	OMIM:620023
HP:0012639	Abnormal nervous system morphology	11198	SUPT16H	OMIM:619480
HP:0012639	Abnormal nervous system morphology	3020	H3-3A	OMIM:619720
HP:0012639	Abnormal nervous system morphology	55182	RNF220	OMIM:619688
HP:0012639	Abnormal nervous system morphology	23031	MAST3	OMIM:620115
HP:0012639	Abnormal nervous system morphology	84520	GON7	OMIM:619603
HP:0012639	Abnormal nervous system morphology	79158	GNPTAB	OMIM:252500
HP:0012639	Abnormal nervous system morphology	6595	SMARCA2	OMIM:619293
HP:0012639	Abnormal nervous system morphology	111	ADCY5	OMIM:619651
HP:0012639	Abnormal nervous system morphology	23522	KAT6B	OMIM:606170
HP:0012639	Abnormal nervous system morphology	1107	CHD3	OMIM:618205
HP:0012639	Abnormal nervous system morphology	7920	ABHD16A	OMIM:619735
HP:0012639	Abnormal nervous system morphology	9439	MED23	OMIM:614249
HP:0012639	Abnormal nervous system morphology	819	CAMLG	OMIM:620201
HP:0012639	Abnormal nervous system morphology	51608	GET4	OMIM:620200
HP:0012639	Abnormal nervous system morphology	2801	GOLGA2	OMIM:620240
HP:0012639	Abnormal nervous system morphology	2898	GRIK2	OMIM:619580
HP:0012639	Abnormal nervous system morphology	26175	LYSET	OMIM:619345
HP:0012639	Abnormal nervous system morphology	5442	POLRMT	OMIM:619743
HP:0012639	Abnormal nervous system morphology	51163	DBR1	OMIM:619441
HP:0012639	Abnormal nervous system morphology	10367	MICU1	OMIM:615673
HP:0012639	Abnormal nervous system morphology	4781	NFIB	OMIM:618286
HP:0012639	Abnormal nervous system morphology	1725	DHPS	OMIM:618480
HP:0012639	Abnormal nervous system morphology	2972	BRF1	OMIM:616202
HP:0012639	Abnormal nervous system morphology	959	CD40LG	OMIM:308230
HP:0012639	Abnormal nervous system morphology	1893	ECM1	OMIM:247100
HP:0012639	Abnormal nervous system morphology	29920	PYCR2	OMIM:616420
HP:0012639	Abnormal nervous system morphology	7862	BRPF1	OMIM:617333
HP:0012639	Abnormal nervous system morphology	343450	KCNT2	OMIM:617771
HP:0012639	Abnormal nervous system morphology	5119	CHMP1A	OMIM:614961
HP:0012639	Abnormal nervous system morphology	5530	PPP3CA	OMIM:617711
HP:0012639	Abnormal nervous system morphology	6709	SPTAN1	OMIM:613477
HP:0012639	Abnormal nervous system morphology	64919	BCL11B	OMIM:617237
HP:0012639	Abnormal nervous system morphology	54187	NANS	OMIM:610442
HP:0012639	Abnormal nervous system morphology	54675	CRLS1	OMIM:620167
HP:0012639	Abnormal nervous system morphology	1496	CTNNA2	OMIM:618174
HP:0012639	Abnormal nervous system morphology	51506	UFC1	OMIM:618076
HP:0012639	Abnormal nervous system morphology	3658	IREB2	OMIM:618451
HP:0012639	Abnormal nervous system morphology	7280	TUBB2A	OMIM:615763
HP:0012639	Abnormal nervous system morphology	27445	PCLO	OMIM:608027
HP:0012639	Abnormal nervous system morphology	9230	RAB11B	OMIM:617807
HP:0012639	Abnormal nervous system morphology	10978	CLP1	OMIM:615803
HP:0012639	Abnormal nervous system morphology	26153	KIF26A	OMIM:620156
HP:0012639	Abnormal nervous system morphology	1759	DNM1	OMIM:620352
HP:0012639	Abnormal nervous system morphology	10430	TMEM147	OMIM:620075
HP:0012639	Abnormal nervous system morphology	91801	ALKBH8	OMIM:618504
HP:0012639	Abnormal nervous system morphology	3043	HBB	ORPHA:231214
HP:0012639	Abnormal nervous system morphology	3043	HBB	ORPHA:231226
HP:0012639	Abnormal nervous system morphology	116519	APOA5	OMIM:145750
HP:0012639	Abnormal nervous system morphology	10801	SEPTIN9	OMIM:162100
HP:0012639	Abnormal nervous system morphology	710	SERPING1	OMIM:106100
HP:0012639	Abnormal nervous system morphology	3508	IGHMBP2	OMIM:616155
HP:0012639	Abnormal nervous system morphology	3508	IGHMBP2	OMIM:604320
HP:0012639	Abnormal nervous system morphology	89874	SLC25A21	OMIM:618811
HP:0012639	Abnormal nervous system morphology	65055	REEP1	OMIM:620011
HP:0012639	Abnormal nervous system morphology	28982	FLVCR1	OMIM:609033
HP:0012639	Abnormal nervous system morphology	5455	POU3F3	OMIM:618604
HP:0012639	Abnormal nervous system morphology	10371	SEMA3A	OMIM:614897
HP:0012639	Abnormal nervous system morphology	170825	GSX2	OMIM:618646
HP:0012639	Abnormal nervous system morphology	23347	SMCHD1	ORPHA:2250
HP:0012639	Abnormal nervous system morphology	347733	TUBB2B	ORPHA:467166
HP:0012639	Abnormal nervous system morphology	7846	TUBA1A	ORPHA:467166
HP:0012639	Abnormal nervous system morphology	10381	TUBB3	ORPHA:467166
HP:0012639	Abnormal nervous system morphology	11277	TREX1	ORPHA:247691
HP:0012639	Abnormal nervous system morphology	54704	PDP1	ORPHA:79246
HP:0012639	Abnormal nervous system morphology	2548	GAA	ORPHA:308552
HP:0012639	Abnormal nervous system morphology	1053	CEBPE	OMIM:245480
HP:0012639	Abnormal nervous system morphology	999	CDH1	OMIM:119580
HP:0012639	Abnormal nervous system morphology	2048	EPHB2	OMIM:603688
HP:0012639	Abnormal nervous system morphology	2130	EWSR1	ORPHA:83469
HP:0012639	Abnormal nervous system morphology	54894	RNF43	ORPHA:157798
HP:0012639	Abnormal nervous system morphology	8216	LZTR1	OMIM:615670
HP:0012639	Abnormal nervous system morphology	51651	PTRH2	ORPHA:456312
HP:0012639	Abnormal nervous system morphology	59336	PRDM13	OMIM:619909
HP:0012639	Abnormal nervous system morphology	4644	MYO5A	ORPHA:33445
HP:0012639	Abnormal nervous system morphology	51360	MBTPS2	ORPHA:2273
HP:0012639	Abnormal nervous system morphology	79813	EHMT1	ORPHA:96147
HP:0012639	Abnormal nervous system morphology	71	ACTG1	ORPHA:2995
HP:0012639	Abnormal nervous system morphology	60	ACTB	ORPHA:2995
HP:0012639	Abnormal nervous system morphology	23299	BICD2	OMIM:618291
HP:0012639	Abnormal nervous system morphology	3674	ITGA2B	OMIM:273800
HP:0012639	Abnormal nervous system morphology	1785	DNM2	OMIM:615368
HP:0012639	Abnormal nervous system morphology	8241	RBM10	OMIM:311900
HP:0012639	Abnormal nervous system morphology	5054	SERPINE1	ORPHA:465
HP:0012639	Abnormal nervous system morphology	2243	FGA	OMIM:202400
HP:0012639	Abnormal nervous system morphology	2244	FGB	OMIM:202400
HP:0012639	Abnormal nervous system morphology	2266	FGG	OMIM:202400
HP:0012639	Abnormal nervous system morphology	10526	IPO8	OMIM:619472
HP:0012639	Abnormal nervous system morphology	6622	SNCA	OMIM:605543
HP:0012639	Abnormal nervous system morphology	6622	SNCA	ORPHA:171695
HP:0012639	Abnormal nervous system morphology	6622	SNCA	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	6622	SNCA	OMIM:168601
HP:0012639	Abnormal nervous system morphology	6622	SNCA	OMIM:127750
HP:0012639	Abnormal nervous system morphology	5071	PRKN	OMIM:600116
HP:0012639	Abnormal nervous system morphology	25793	FBXO7	ORPHA:171695
HP:0012639	Abnormal nervous system morphology	1981	EIF4G1	OMIM:614251
HP:0012639	Abnormal nervous system morphology	1981	EIF4G1	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	7072	TIA1	OMIM:619133
HP:0012639	Abnormal nervous system morphology	120892	LRRK2	OMIM:607060
HP:0012639	Abnormal nervous system morphology	120892	LRRK2	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	54832	VPS13C	OMIM:616840
HP:0012639	Abnormal nervous system morphology	2629	GBA1	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	2629	GBA1	OMIM:168600
HP:0012639	Abnormal nervous system morphology	2629	GBA1	OMIM:127750
HP:0012639	Abnormal nervous system morphology	23317	DNAJC13	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	55737	VPS35	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	26058	GIGYF2	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	2747	GLUD2	OMIM:168600
HP:0012639	Abnormal nervous system morphology	126	ADH1C	OMIM:168600
HP:0012639	Abnormal nervous system morphology	6908	TBP	OMIM:168600
HP:0012639	Abnormal nervous system morphology	4576	MT-TT	OMIM:168600
HP:0012639	Abnormal nervous system morphology	9627	SNCAIP	OMIM:168600
HP:0012639	Abnormal nervous system morphology	6311	ATXN2	OMIM:168600
HP:0012639	Abnormal nervous system morphology	6620	SNCB	OMIM:127750
HP:0012639	Abnormal nervous system morphology	7957	EPM2A	OMIM:254780
HP:0012639	Abnormal nervous system morphology	7957	EPM2A	ORPHA:501
HP:0012639	Abnormal nervous system morphology	378884	NHLRC1	OMIM:254780
HP:0012639	Abnormal nervous system morphology	378884	NHLRC1	ORPHA:501
HP:0012639	Abnormal nervous system morphology	56978	PRDM8	ORPHA:324290
HP:0012639	Abnormal nervous system morphology	56978	PRDM8	OMIM:616640
HP:0012639	Abnormal nervous system morphology	1182	CLCN3	OMIM:619517
HP:0012639	Abnormal nervous system morphology	1182	CLCN3	OMIM:619512
HP:0012639	Abnormal nervous system morphology	2670	GFAP	OMIM:203450
HP:0012639	Abnormal nervous system morphology	1356	CP	ORPHA:48818
HP:0012639	Abnormal nervous system morphology	8813	DPM1	ORPHA:79322
HP:0012639	Abnormal nervous system morphology	6253	RTN2	ORPHA:100993
HP:0012639	Abnormal nervous system morphology	51271	UBAP1	ORPHA:100993
HP:0012639	Abnormal nervous system morphology	51218	GLRX5	ORPHA:401866
HP:0012639	Abnormal nervous system morphology	3839	KPNA3	ORPHA:171612
HP:0012639	Abnormal nervous system morphology	11235	PDCD10	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	83605	CCM2	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	889	KRIT1	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	9197	SLC33A1	ORPHA:171863
HP:0012639	Abnormal nervous system morphology	1616	DAXX	ORPHA:100075
HP:0012639	Abnormal nervous system morphology	9820	CUL7	ORPHA:2616
HP:0012639	Abnormal nervous system morphology	23363	OBSL1	ORPHA:2616
HP:0012639	Abnormal nervous system morphology	5624	PROC	ORPHA:745
HP:0012639	Abnormal nervous system morphology	56922	MCCC1	ORPHA:6
HP:0012639	Abnormal nervous system morphology	64087	MCCC2	ORPHA:6
HP:0012639	Abnormal nervous system morphology	326	AIRE	ORPHA:3453
HP:0012639	Abnormal nervous system morphology	83480	PUS3	OMIM:617051
HP:0012639	Abnormal nervous system morphology	83480	PUS3	ORPHA:488627
HP:0012639	Abnormal nervous system morphology	29899	GPSM2	OMIM:604213
HP:0012639	Abnormal nervous system morphology	3747	KCNC2	OMIM:619913
HP:0012639	Abnormal nervous system morphology	4897	NRCAM	OMIM:619833
HP:0012639	Abnormal nervous system morphology	6323	SCN1A	OMIM:619317
HP:0012639	Abnormal nervous system morphology	3703	STT3A	OMIM:619714
HP:0012639	Abnormal nervous system morphology	85358	SHANK3	OMIM:606232
HP:0012639	Abnormal nervous system morphology	85358	SHANK3	ORPHA:48652
HP:0012639	Abnormal nervous system morphology	55593	OTUD5	OMIM:301056
HP:0012639	Abnormal nervous system morphology	4854	NOTCH3	OMIM:130720
HP:0012639	Abnormal nervous system morphology	57169	ZNFX1	OMIM:619644
HP:0012639	Abnormal nervous system morphology	6651	SON	OMIM:617140
HP:0012639	Abnormal nervous system morphology	6651	SON	ORPHA:500150
HP:0012639	Abnormal nervous system morphology	113179	ADAT3	ORPHA:363528
HP:0012639	Abnormal nervous system morphology	113179	ADAT3	OMIM:615286
HP:0012639	Abnormal nervous system morphology	25782	RAB3GAP2	OMIM:212720
HP:0012639	Abnormal nervous system morphology	51726	DNAJB11	ORPHA:730
HP:0012639	Abnormal nervous system morphology	23193	GANAB	ORPHA:730
HP:0012639	Abnormal nervous system morphology	5310	PKD1	ORPHA:730
HP:0012639	Abnormal nervous system morphology	5311	PKD2	ORPHA:730
HP:0012639	Abnormal nervous system morphology	29880	ALG5	ORPHA:730
HP:0012639	Abnormal nervous system morphology	79796	ALG9	ORPHA:730
HP:0012639	Abnormal nervous system morphology	80114	BICC1	ORPHA:730
HP:0012639	Abnormal nervous system morphology	4677	NARS1	OMIM:619091
HP:0012639	Abnormal nervous system morphology	64324	NSD1	OMIM:117550
HP:0012639	Abnormal nervous system morphology	537	ATP6AP1	OMIM:300972
HP:0012639	Abnormal nervous system morphology	5528	PPP2R5D	ORPHA:457279
HP:0012639	Abnormal nervous system morphology	10463	SLC30A9	OMIM:617595
HP:0012639	Abnormal nervous system morphology	6326	SCN2A	OMIM:618924
HP:0012639	Abnormal nervous system morphology	131118	DNAJC19	ORPHA:66634
HP:0012639	Abnormal nervous system morphology	63929	XPNPEP3	OMIM:613159
HP:0012639	Abnormal nervous system morphology	51322	WAC	ORPHA:466950
HP:0012639	Abnormal nervous system morphology	4750	NEK1	ORPHA:2751
HP:0012639	Abnormal nervous system morphology	3265	HRAS	ORPHA:2874
HP:0012639	Abnormal nervous system morphology	1717	DHCR7	OMIM:270400
HP:0012639	Abnormal nervous system morphology	23258	DENND5A	OMIM:617281
HP:0012639	Abnormal nervous system morphology	26278	SACS	ORPHA:98
HP:0012639	Abnormal nervous system morphology	3845	KRAS	OMIM:600268
HP:0012639	Abnormal nervous system morphology	25970	SH2B1	ORPHA:261197
HP:0012639	Abnormal nervous system morphology	4893	NRAS	OMIM:249400
HP:0012639	Abnormal nervous system morphology	10682	EBP	ORPHA:35173
HP:0012639	Abnormal nervous system morphology	196528	ARID2	OMIM:617808
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:101200
HP:0012639	Abnormal nervous system morphology	9131	AIFM1	ORPHA:83629
HP:0012639	Abnormal nervous system morphology	5354	PLP1	OMIM:312080
HP:0012639	Abnormal nervous system morphology	4088	SMAD3	ORPHA:284984
HP:0012639	Abnormal nervous system morphology	4088	SMAD3	OMIM:613795
HP:0012639	Abnormal nervous system morphology	4088	SMAD3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4015	LOX	OMIM:617168
HP:0012639	Abnormal nervous system morphology	4015	LOX	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	8076	MFAP5	OMIM:616166
HP:0012639	Abnormal nervous system morphology	8076	MFAP5	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	7048	TGFBR2	OMIM:610168
HP:0012639	Abnormal nervous system morphology	7048	TGFBR2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	5921	RASA1	ORPHA:90307
HP:0012639	Abnormal nervous system morphology	7042	TGFB2	OMIM:614816
HP:0012639	Abnormal nervous system morphology	7042	TGFB2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	7046	TGFBR1	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4087	SMAD2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	7043	TGFB3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4089	SMAD4	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	59	ACTA2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	5592	PRKG1	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	2301	FOXE3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4144	MAT2A	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	23493	HEY2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4638	MYLK	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	2006	ELN	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	51057	WDPCP	ORPHA:1338
HP:0012639	Abnormal nervous system morphology	79029	AFG2B	OMIM:619616
HP:0012639	Abnormal nervous system morphology	80055	PGAP1	OMIM:615802
HP:0012639	Abnormal nervous system morphology	22930	RAB3GAP1	OMIM:600118
HP:0012639	Abnormal nervous system morphology	4361	MRE11	ORPHA:251347
HP:0012639	Abnormal nervous system morphology	2271	FH	OMIM:606812
HP:0012639	Abnormal nervous system morphology	54805	CNNM2	OMIM:616418
HP:0012639	Abnormal nervous system morphology	26005	C2CD3	ORPHA:434179
HP:0012639	Abnormal nervous system morphology	3661	IRF3	OMIM:616532
HP:0012639	Abnormal nervous system morphology	10535	RNASEH2A	OMIM:610333
HP:0012639	Abnormal nervous system morphology	84153	RNASEH2C	OMIM:610329
HP:0012639	Abnormal nervous system morphology	112476	PRRT2	ORPHA:569
HP:0012639	Abnormal nervous system morphology	477	ATP1A2	ORPHA:569
HP:0012639	Abnormal nervous system morphology	7187	TRAF3	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	81622	UNC93B1	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	148022	TICAM1	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	7098	TLR3	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	29110	TBK1	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	23261	CAMTA1	OMIM:614756
HP:0012639	Abnormal nervous system morphology	57094	CPA6	OMIM:614418
HP:0012639	Abnormal nervous system morphology	10347	ABCA7	OMIM:608907
HP:0012639	Abnormal nervous system morphology	1738	DLD	OMIM:246900
HP:0100951	Enlarged fossa interpeduncularis	54806	AHI1	OMIM:608629
HP:0100951	Enlarged fossa interpeduncularis	51259	TMEM216	OMIM:608091
HP:0100951	Enlarged fossa interpeduncularis	56623	INPP5E	OMIM:213300
HP:0100951	Enlarged fossa interpeduncularis	91147	TMEM67	OMIM:610688
HP:0002421	Poor head control	4702	NDUFA8	OMIM:619272
HP:0002421	Poor head control	57190	SELENON	ORPHA:324604
HP:0002421	Poor head control	57190	SELENON	ORPHA:97244
HP:0002421	Poor head control	57190	SELENON	OMIM:602771
HP:0002421	Poor head control	57190	SELENON	ORPHA:2020
HP:0002421	Poor head control	4625	MYH7	ORPHA:324604
HP:0002421	Poor head control	7273	TTN	ORPHA:324604
HP:0002421	Poor head control	4359	MPZ	OMIM:618184
HP:0002421	Poor head control	58	ACTA1	ORPHA:97244
HP:0002421	Poor head control	58	ACTA1	ORPHA:2020
HP:0002421	Poor head control	54539	NDUFB11	ORPHA:2609
HP:0002421	Poor head control	25915	NDUFAF3	ORPHA:2609
HP:0002421	Poor head control	51103	NDUFAF1	ORPHA:2609
HP:0002421	Poor head control	91942	NDUFAF2	ORPHA:2609
HP:0002421	Poor head control	51300	TIMMDC1	ORPHA:2609
HP:0002421	Poor head control	4716	NDUFB10	ORPHA:2609
HP:0002421	Poor head control	4723	NDUFV1	ORPHA:2609
HP:0002421	Poor head control	55572	FOXRED1	ORPHA:2609
HP:0002421	Poor head control	284184	NDUFAF8	ORPHA:2609
HP:0002421	Poor head control	55863	TMEM126B	ORPHA:2609
HP:0002421	Poor head control	4535	MT-ND1	ORPHA:2609
HP:0002421	Poor head control	4537	MT-ND3	ORPHA:2609
HP:0002421	Poor head control	4729	NDUFV2	ORPHA:2609
HP:0002421	Poor head control	4694	NDUFA1	ORPHA:2609
HP:0002421	Poor head control	4720	NDUFS2	ORPHA:2609
HP:0002421	Poor head control	4724	NDUFS4	ORPHA:2609
HP:0002421	Poor head control	4724	NDUFS4	OMIM:252010
HP:0002421	Poor head control	4726	NDUFS6	ORPHA:2609
HP:0002421	Poor head control	4728	NDUFS8	ORPHA:2609
HP:0002421	Poor head control	4722	NDUFS3	ORPHA:2609
HP:0002421	Poor head control	79133	NDUFAF5	ORPHA:2609
HP:0002421	Poor head control	126328	NDUFA11	ORPHA:2609
HP:0002421	Poor head control	4709	NDUFB3	ORPHA:2609
HP:0002421	Poor head control	80224	NUBPL	ORPHA:2609
HP:0002421	Poor head control	29078	NDUFAF4	ORPHA:2609
HP:0002421	Poor head control	374291	NDUFS7	ORPHA:2609
HP:0002421	Poor head control	4700	NDUFA6	ORPHA:2609
HP:0002421	Poor head control	4536	MT-ND2	ORPHA:2609
HP:0002421	Poor head control	4719	NDUFS1	ORPHA:2609
HP:0002421	Poor head control	4715	NDUFB9	ORPHA:2609
HP:0002421	Poor head control	29925	GMPPB	OMIM:615350
HP:0002421	Poor head control	29925	GMPPB	OMIM:615351
HP:0002421	Poor head control	29925	GMPPB	ORPHA:353327
HP:0002421	Poor head control	2775	GNAO1	OMIM:617493
HP:0002421	Poor head control	2775	GNAO1	ORPHA:1934
HP:0002421	Poor head control	57128	LYRM4	OMIM:615595
HP:0002421	Poor head control	1144	CHRND	OMIM:616321
HP:0002421	Poor head control	5393	EXOSC9	OMIM:618065
HP:0002421	Poor head control	64116	SLC39A8	OMIM:616721
HP:0002421	Poor head control	64116	SLC39A8	ORPHA:468699
HP:0002421	Poor head control	1305	COL13A1	OMIM:616720
HP:0002421	Poor head control	1305	COL13A1	ORPHA:98914
HP:0002421	Poor head control	23394	ADNP	OMIM:615873
HP:0002421	Poor head control	8818	DPM2	ORPHA:329178
HP:0002421	Poor head control	781	CACNA2D1	OMIM:620149
HP:0002421	Poor head control	781	CACNA2D1	ORPHA:442835
HP:0002421	Poor head control	56623	INPP5E	OMIM:213300
HP:0002421	Poor head control	6571	SLC18A2	ORPHA:352649
HP:0002421	Poor head control	6571	SLC18A2	OMIM:618049
HP:0002421	Poor head control	170302	ARX	OMIM:308350
HP:0002421	Poor head control	170302	ARX	ORPHA:1934
HP:0002421	Poor head control	1605	DAG1	ORPHA:370997
HP:0002421	Poor head control	1605	DAG1	OMIM:616538
HP:0002421	Poor head control	3073	HEXA	OMIM:272800
HP:0002421	Poor head control	57165	GJC2	OMIM:608804
HP:0002421	Poor head control	55610	VPS50	OMIM:619685
HP:0002421	Poor head control	11277	TREX1	OMIM:225750
HP:0002421	Poor head control	10978	CLP1	ORPHA:411493
HP:0002421	Poor head control	10659	CELF2	OMIM:619561
HP:0002421	Poor head control	10659	CELF2	ORPHA:442835
HP:0002421	Poor head control	51506	UFC1	OMIM:618076
HP:0002421	Poor head control	63895	PIEZO2	OMIM:617146
HP:0002421	Poor head control	9342	SNAP29	ORPHA:66631
HP:0002421	Poor head control	9342	SNAP29	OMIM:609528
HP:0002421	Poor head control	5917	RARS1	ORPHA:438114
HP:0002421	Poor head control	5917	RARS1	OMIM:616140
HP:0002421	Poor head control	443	ASPA	ORPHA:314918
HP:0002421	Poor head control	443	ASPA	ORPHA:314911
HP:0002421	Poor head control	84466	MEGF10	OMIM:614399
HP:0002421	Poor head control	84197	POMK	OMIM:615249
HP:0002421	Poor head control	3097	HIVEP2	OMIM:616977
HP:0002421	Poor head control	51010	EXOSC3	OMIM:614678
HP:0002421	Poor head control	55033	FKBP14	OMIM:614557
HP:0002421	Poor head control	55033	FKBP14	ORPHA:300179
HP:0002421	Poor head control	55768	NGLY1	ORPHA:404454
HP:0002421	Poor head control	54820	NDE1	OMIM:605013
HP:0002421	Poor head control	79158	GNPTAB	OMIM:252500
HP:0002421	Poor head control	2673	GFPT1	ORPHA:353327
HP:0002421	Poor head control	1798	DPAGT1	ORPHA:353327
HP:0002421	Poor head control	85365	ALG2	ORPHA:353327
HP:0002421	Poor head control	199857	ALG14	ORPHA:353327
HP:0002421	Poor head control	87178	PNPT1	ORPHA:319514
HP:0002421	Poor head control	87178	PNPT1	OMIM:614932
HP:0002421	Poor head control	55250	ELP2	OMIM:617270
HP:0002421	Poor head control	79868	ALG13	ORPHA:324422
HP:0002421	Poor head control	84340	GFM2	ORPHA:565624
HP:0002421	Poor head control	112939	NACC1	OMIM:617393
HP:0002421	Poor head control	100131801	PET100	OMIM:619055
HP:0002421	Poor head control	8913	CACNA1G	OMIM:618087
HP:0002421	Poor head control	84665	MYPN	ORPHA:171881
HP:0002421	Poor head control	7169	TPM2	ORPHA:171881
HP:0002421	Poor head control	7169	TPM2	ORPHA:2020
HP:0002421	Poor head control	7170	TPM3	ORPHA:171881
HP:0002421	Poor head control	7170	TPM3	ORPHA:2020
HP:0002421	Poor head control	4705	NDUFA10	OMIM:618243
HP:0002421	Poor head control	9512	PMPCB	OMIM:617954
HP:0002421	Poor head control	816	CAMK2B	OMIM:617799
HP:0002421	Poor head control	191	AHCY	OMIM:613752
HP:0002421	Poor head control	191	AHCY	ORPHA:88618
HP:0002421	Poor head control	51079	NDUFA13	OMIM:618249
HP:0002421	Poor head control	819	CAMLG	OMIM:620201
HP:0002421	Poor head control	6606	SMN1	OMIM:253300
HP:0002421	Poor head control	8604	SLC25A12	OMIM:612949
HP:0002421	Poor head control	5805	PTS	ORPHA:13
HP:0002421	Poor head control	8802	SUCLG1	OMIM:245400
HP:0002421	Poor head control	5354	PLP1	ORPHA:280210
HP:0002421	Poor head control	5354	PLP1	ORPHA:280219
HP:0002421	Poor head control	6792	CDKL5	ORPHA:505652
HP:0002421	Poor head control	6792	CDKL5	ORPHA:1934
HP:0002421	Poor head control	6712	SPTBN2	OMIM:600224
HP:0002421	Poor head control	1327	COX4I1	OMIM:619060
HP:0002421	Poor head control	4633	MYL2	ORPHA:2020
HP:0002421	Poor head control	3679	ITGA7	ORPHA:2020
HP:0002421	Poor head control	9200	HACD1	ORPHA:2020
HP:0002421	Poor head control	51776	MAP3K20	ORPHA:2020
HP:0002421	Poor head control	6390	SDHB	OMIM:619224
HP:0002421	Poor head control	6390	SDHB	ORPHA:3208
HP:0002421	Poor head control	2903	GRIN2A	ORPHA:289266
HP:0002421	Poor head control	388962	BOLA3	OMIM:614299
HP:0002421	Poor head control	10352	WARS2	ORPHA:572798
HP:0002421	Poor head control	84342	COG8	ORPHA:95428
HP:0002421	Poor head control	3737	KCNA2	ORPHA:442835
HP:0002421	Poor head control	1759	DNM1	ORPHA:442835
HP:0002421	Poor head control	1759	DNM1	OMIM:620352
HP:0002421	Poor head control	8120	AP3B2	ORPHA:442835
HP:0002421	Poor head control	523	ATP6V1A	ORPHA:442835
HP:0002421	Poor head control	10991	SLC38A3	ORPHA:442835
HP:0002421	Poor head control	51343	FZR1	ORPHA:442835
HP:0002421	Poor head control	22906	TRAK1	ORPHA:442835
HP:0002421	Poor head control	2566	GABRG2	ORPHA:442835
HP:0002421	Poor head control	1917	EEF1A2	ORPHA:442835
HP:0002421	Poor head control	2561	GABRB2	ORPHA:442835
HP:0002421	Poor head control	8831	SYNGAP1	ORPHA:442835
HP:0002421	Poor head control	7532	YWHAG	ORPHA:442835
HP:0002421	Poor head control	79876	UBA5	ORPHA:442835
HP:0002421	Poor head control	6328	SCN3A	ORPHA:442835
HP:0002421	Poor head control	2558	GABRA5	ORPHA:442835
HP:0002421	Poor head control	2906	GRIN2D	ORPHA:442835
HP:0002421	Poor head control	116150	NUS1	ORPHA:442835
HP:0002421	Poor head control	774	CACNA1B	ORPHA:442835
HP:0002421	Poor head control	1213	CLTC	ORPHA:442835
HP:0002421	Poor head control	51741	WWOX	ORPHA:442835
HP:0002421	Poor head control	23334	SZT2	ORPHA:442835
HP:0002421	Poor head control	51412	ACTL6B	ORPHA:442835
HP:0002421	Poor head control	348980	HCN1	ORPHA:442835
HP:0002421	Poor head control	6506	SLC1A2	ORPHA:442835
HP:0002421	Poor head control	8867	SYNJ1	ORPHA:442835
HP:0002421	Poor head control	2258	FGF13	ORPHA:442835
HP:0002421	Poor head control	477	ATP1A2	ORPHA:442835
HP:0002421	Poor head control	3745	KCNB1	ORPHA:442835
HP:0002421	Poor head control	284111	SLC13A5	ORPHA:442835
HP:0002421	Poor head control	25977	NECAP1	ORPHA:442835
HP:0002421	Poor head control	16	AARS1	ORPHA:442835
HP:0002421	Poor head control	6334	SCN8A	ORPHA:442835
HP:0002421	Poor head control	22866	CNKSR2	ORPHA:442835
HP:0002421	Poor head control	9568	GABBR2	ORPHA:442835
HP:0002421	Poor head control	9568	GABBR2	OMIM:617904
HP:0002421	Poor head control	2555	GABRA2	ORPHA:442835
HP:0002421	Poor head control	55152	DALRD3	ORPHA:442835
HP:0002421	Poor head control	773	CACNA1A	ORPHA:442835
HP:0002421	Poor head control	26999	CYFIP2	ORPHA:442835
HP:0002421	Poor head control	4915	NTRK2	ORPHA:442835
HP:0002421	Poor head control	25973	PARS2	ORPHA:442835
HP:0002421	Poor head control	23097	CDK19	ORPHA:442835
HP:0002421	Poor head control	64801	ARV1	ORPHA:442835
HP:0002421	Poor head control	79947	DHDDS	ORPHA:442835
HP:0002421	Poor head control	2257	FGF12	ORPHA:442835
HP:0002421	Poor head control	5530	PPP3CA	ORPHA:442835
HP:0002421	Poor head control	478	ATP1A3	ORPHA:442835
HP:0002421	Poor head control	3028	HSD17B10	ORPHA:391428
HP:0002421	Poor head control	8943	AP3D1	OMIM:617050
HP:0002421	Poor head control	253738	EBF3	OMIM:617330
HP:0002421	Poor head control	5281	PIGF	OMIM:619356
HP:0002421	Poor head control	84879	MFSD2A	OMIM:616486
HP:0002421	Poor head control	10815	CPLX1	OMIM:617976
HP:0002421	Poor head control	3747	KCNC2	OMIM:619913
HP:0002421	Poor head control	116115	ZNF526	OMIM:619877
HP:0002421	Poor head control	538	ATP7A	OMIM:309400
HP:0002421	Poor head control	4191	MDH2	OMIM:617339
HP:0002421	Poor head control	9091	PIGQ	OMIM:618548
HP:0002421	Poor head control	9091	PIGQ	ORPHA:1934
HP:0002421	Poor head control	3251	HPRT1	OMIM:300322
HP:0002421	Poor head control	253959	RALGAPA1	OMIM:618797
HP:0002421	Poor head control	2273	FHL1	OMIM:300717
HP:0002421	Poor head control	163175	LGI4	OMIM:617468
HP:0002421	Poor head control	60482	SLC5A7	ORPHA:98914
HP:0002421	Poor head control	4649	MYO9A	ORPHA:98914
HP:0002421	Poor head control	1103	CHAT	ORPHA:98914
HP:0002421	Poor head control	6576	SLC25A1	ORPHA:98914
HP:0002421	Poor head control	6843	VAMP1	ORPHA:98914
HP:0002421	Poor head control	6843	VAMP1	OMIM:618323
HP:0002421	Poor head control	375790	AGRN	ORPHA:98914
HP:0002421	Poor head control	127833	SYT2	ORPHA:98914
HP:0002421	Poor head control	6572	SLC18A3	ORPHA:98914
HP:0002421	Poor head control	6616	SNAP25	ORPHA:98914
HP:0002421	Poor head control	64135	IFIH1	OMIM:615846
HP:0002421	Poor head control	8292	COLQ	ORPHA:98915
HP:0002421	Poor head control	3913	LAMB2	ORPHA:98915
HP:0002421	Poor head control	57038	RARS2	OMIM:611523
HP:0002421	Poor head control	10681	GNB5	ORPHA:542306
HP:0002421	Poor head control	10667	FARS2	ORPHA:466722
HP:0002421	Poor head control	4841	NONO	ORPHA:466791
HP:0002421	Poor head control	4000	LMNA	ORPHA:157973
HP:0002421	Poor head control	7355	SLC35A2	OMIM:300896
HP:0002421	Poor head control	79147	FKRP	OMIM:613153
HP:0002421	Poor head control	111	ADCY5	OMIM:619651
HP:0002421	Poor head control	125988	MICOS13	OMIM:618329
HP:0002421	Poor head control	2902	GRIN1	OMIM:619814
HP:0002421	Poor head control	2902	GRIN1	ORPHA:1934
HP:0002421	Poor head control	6389	SDHA	ORPHA:3208
HP:0002421	Poor head control	6392	SDHD	ORPHA:3208
HP:0002421	Poor head control	644096	SDHAF1	ORPHA:3208
HP:0002421	Poor head control	51227	PIGP	OMIM:617599
HP:0002421	Poor head control	51227	PIGP	ORPHA:1934
HP:0002421	Poor head control	9725	TMEM63A	OMIM:618688
HP:0002421	Poor head control	50628	GEMIN4	OMIM:617913
HP:0002421	Poor head control	2581	GALC	ORPHA:206436
HP:0002421	Poor head control	5660	PSAP	ORPHA:206436
HP:0002421	Poor head control	5048	PAFAH1B1	ORPHA:95232
HP:0002421	Poor head control	57731	SPTBN4	OMIM:617519
HP:0002421	Poor head control	124454	EARS2	OMIM:614924
HP:0002421	Poor head control	1719	DHFR	OMIM:613839
HP:0002421	Poor head control	28962	OSTM1	OMIM:259720
HP:0002421	Poor head control	6567	SLC16A2	ORPHA:59
HP:0002421	Poor head control	64432	MRPS25	OMIM:619025
HP:0002421	Poor head control	9742	IFT140	OMIM:266920
HP:0002421	Poor head control	8884	SLC5A6	OMIM:618973
HP:0002421	Poor head control	133686	NADK2	OMIM:616034
HP:0002421	Poor head control	3658	IREB2	OMIM:618451
HP:0002421	Poor head control	221692	PHACTR1	OMIM:618298
HP:0002421	Poor head control	10243	GPHN	OMIM:615501
HP:0002421	Poor head control	1140	CHRNB1	OMIM:616313
HP:0002421	Poor head control	3329	HSPD1	OMIM:612233
HP:0002421	Poor head control	8449	DHX16	OMIM:618733
HP:0002421	Poor head control	7407	VARS1	OMIM:617802
HP:0002421	Poor head control	27445	PCLO	OMIM:608027
HP:0002421	Poor head control	3736	KCNA1	ORPHA:1934
HP:0002421	Poor head control	81603	TRIM8	ORPHA:1934
HP:0002421	Poor head control	79751	SLC25A22	ORPHA:1934
HP:0002421	Poor head control	150094	SIK1	ORPHA:1934
HP:0002421	Poor head control	8573	CASK	ORPHA:1934
HP:0002421	Poor head control	23312	DMXL2	ORPHA:1934
HP:0002421	Poor head control	2917	GRM7	ORPHA:1934
HP:0002421	Poor head control	11284	PNKP	ORPHA:1934
HP:0002421	Poor head control	6326	SCN2A	ORPHA:1934
HP:0002421	Poor head control	6324	SCN1B	ORPHA:1934
HP:0002421	Poor head control	4761	NEUROD2	ORPHA:1934
HP:0002421	Poor head control	9325	TRIP4	ORPHA:486815
HP:0002421	Poor head control	2760	GM2A	OMIM:272750
HP:0002423	Long-tract signs	1593	CYP27A1	ORPHA:909
HP:0002423	Long-tract signs	8792	TNFRSF11A	OMIM:602080
HP:0002423	Long-tract signs	2961	GTF2E2	OMIM:616943
HP:0002423	Long-tract signs	348	APOE	OMIM:104310
HP:0002423	Long-tract signs	4353	MPO	OMIM:104300
HP:0002423	Long-tract signs	4846	NOS3	OMIM:104300
HP:0002423	Long-tract signs	3077	HFE	OMIM:104300
HP:0002423	Long-tract signs	351	APP	OMIM:104300
HP:0002423	Long-tract signs	5328	PLAU	OMIM:104300
HP:0007333	Hypoplasia of the frontal lobes	9896	FIG4	OMIM:216340
HP:0007333	Hypoplasia of the frontal lobes	9896	FIG4	ORPHA:3472
HP:0007333	Hypoplasia of the frontal lobes	1717	DHCR7	OMIM:270400
HP:0007333	Hypoplasia of the frontal lobes	55777	MBD5	OMIM:156200
HP:0007333	Hypoplasia of the frontal lobes	55697	VAC14	ORPHA:3472
HP:0007333	Hypoplasia of the frontal lobes	2232	FDXR	ORPHA:543470
HP:0007333	Hypoplasia of the frontal lobes	23229	ARHGEF9	ORPHA:163985
HP:0007333	Hypoplasia of the frontal lobes	23229	ARHGEF9	OMIM:300607
HP:0007333	Hypoplasia of the frontal lobes	100151683	RNU4ATAC	OMIM:210710
HP:0007333	Hypoplasia of the frontal lobes	673	BRAF	OMIM:115150
HP:0007333	Hypoplasia of the frontal lobes	25914	RTTN	ORPHA:468631
HP:0007333	Hypoplasia of the frontal lobes	8813	DPM1	ORPHA:79322
HP:0007333	Hypoplasia of the frontal lobes	55343	SLC35C1	ORPHA:99843
HP:0007333	Hypoplasia of the frontal lobes	9276	COPB2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	11113	CIT	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	9928	KIF14	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	22995	CEP152	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	284403	WDR62	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	55262	TRAPPC14	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	163786	SASS6	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	29920	PYCR2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	84879	MFSD2A	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	4176	MCM7	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	80254	CEP63	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	29081	METTL5	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	23310	NCAPD3	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	55755	CDK5RAP2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	79648	MCPH1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	6491	STIL	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	23141	ANKLE2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	259266	ASPM	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	7109	TRAPPC10	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	1911	PHC1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	6884	TAF13	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	9662	CEP135	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	55835	CENPJ	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	57082	KNL1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	1021	CDK6	ORPHA:2512
HP:0002425	Anarthria	9829	DNAJC6	ORPHA:391411
HP:0002425	Anarthria	5420	PODXL	ORPHA:391411
HP:0002425	Anarthria	8867	SYNJ1	ORPHA:391411
HP:0002425	Anarthria	2512	FTL	OMIM:606159
HP:0002425	Anarthria	2521	FUS	ORPHA:300605
HP:0002425	Anarthria	80208	SPG11	ORPHA:300605
HP:0002425	Anarthria	10280	SIGMAR1	ORPHA:300605
HP:0002425	Anarthria	10558	SPTLC1	ORPHA:300605
HP:0002425	Anarthria	57679	ALS2	ORPHA:300605
HP:0002425	Anarthria	57679	ALS2	OMIM:205100
HP:0002425	Anarthria	57679	ALS2	ORPHA:293168
HP:0002425	Anarthria	57679	ALS2	OMIM:607225
HP:0002425	Anarthria	9757	KMT2B	ORPHA:589618
HP:0002425	Anarthria	79152	FA2H	ORPHA:329308
HP:0002425	Anarthria	23400	ATP13A2	ORPHA:306674
HP:0002425	Anarthria	23400	ATP13A2	OMIM:606693
HP:0002425	Anarthria	6905	TBCE	ORPHA:496756
HP:0002425	Anarthria	7317	UBA1	ORPHA:1145
HP:0002425	Anarthria	84188	FAR1	ORPHA:447753
HP:0002425	Anarthria	5832	ALDH18A1	ORPHA:447753
HP:0002427	Expressive aphasia	79152	FA2H	ORPHA:329308
HP:0002427	Expressive aphasia	2705	GJB1	OMIM:302800
HP:0002427	Expressive aphasia	8131	NPRL3	ORPHA:98820
HP:0002427	Expressive aphasia	10641	NPRL2	ORPHA:98820
HP:0002427	Expressive aphasia	9681	DEPDC5	ORPHA:98820
HP:0002427	Expressive aphasia	25978	CHMP2B	ORPHA:100070
HP:0002427	Expressive aphasia	5663	PSEN1	ORPHA:100070
HP:0002427	Expressive aphasia	2896	GRN	ORPHA:100070
HP:0002427	Expressive aphasia	54664	TMEM106B	ORPHA:100070
HP:0002427	Expressive aphasia	4137	MAPT	ORPHA:100070
HP:0002427	Expressive aphasia	54209	TREM2	ORPHA:100070
HP:0002427	Expressive aphasia	7415	VCP	ORPHA:100070
HP:0002524	Cataplexy	3060	HCRT	OMIM:161400
HP:0002524	Cataplexy	3060	HCRT	ORPHA:2073
HP:0002524	Cataplexy	6904	TBCD	ORPHA:496641
HP:0002524	Cataplexy	6904	TBCD	OMIM:617193
HP:0002524	Cataplexy	10577	NPC2	OMIM:607625
HP:0002524	Cataplexy	4340	MOG	OMIM:614250
HP:0002524	Cataplexy	4340	MOG	ORPHA:2073
HP:0002524	Cataplexy	1786	DNMT1	OMIM:604121
HP:0002524	Cataplexy	1512	CTSH	ORPHA:2073
HP:0002524	Cataplexy	5032	P2RY11	ORPHA:2073
HP:0002524	Cataplexy	3119	HLA-DQB1	ORPHA:2073
HP:0002524	Cataplexy	22891	ZNF365	ORPHA:2073
HP:0002524	Cataplexy	7292	TNFSF4	ORPHA:2073
HP:0002524	Cataplexy	3123	HLA-DRB1	ORPHA:2073
HP:0002524	Cataplexy	4864	NPC1	OMIM:257220
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:93260
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:207
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:93259
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:53271
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:93262
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	50964	SOST	OMIM:269500
HP:0012640	Abnormality of intracranial pressure	50964	SOST	OMIM:122860
HP:0012640	Abnormality of intracranial pressure	26160	IFT172	OMIM:619471
HP:0012640	Abnormality of intracranial pressure	2077	ERF	OMIM:600775
HP:0012640	Abnormality of intracranial pressure	2077	ERF	ORPHA:207
HP:0012640	Abnormality of intracranial pressure	2077	ERF	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	4041	LRP5	ORPHA:178377
HP:0012640	Abnormality of intracranial pressure	2584	GALK1	OMIM:230200
HP:0012640	Abnormality of intracranial pressure	324	APC	ORPHA:99818
HP:0012640	Abnormality of intracranial pressure	8314	BAP1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	4771	NF2	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6598	SMARCB1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	5155	PDGFB	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	84231	TRAF7	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6608	SMO	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	207	AKT1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	207	AKT1	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	7015	TERT	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	51684	SUFU	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6605	SMARCE1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	2767	GNA11	ORPHA:428
HP:0012640	Abnormality of intracranial pressure	846	CASR	ORPHA:428
HP:0012640	Abnormality of intracranial pressure	4072	EPCAM	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	4292	MLH1	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5395	PMS2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	27030	MLH3	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	22909	FAN1	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	7048	TGFBR2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	3845	KRAS	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	2956	MSH6	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5378	PMS1	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	4436	MSH2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5551	PRF1	OMIM:603553
HP:0012640	Abnormality of intracranial pressure	79848	CSPP1	ORPHA:397715
HP:0012640	Abnormality of intracranial pressure	9786	KIAA0586	ORPHA:397715
HP:0012640	Abnormality of intracranial pressure	11235	PDCD10	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	83605	CCM2	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	889	KRIT1	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	64218	SEMA4A	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	657	BMPR1A	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	6224	RPS20	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	3662	IRF4	ORPHA:3452
HP:0012640	Abnormality of intracranial pressure	7428	VHL	ORPHA:892
HP:0012640	Abnormality of intracranial pressure	595	CCND1	ORPHA:892
HP:0012640	Abnormality of intracranial pressure	22943	DKK1	ORPHA:268882
HP:0012640	Abnormality of intracranial pressure	727676	SNORD118	ORPHA:542310
HP:0012640	Abnormality of intracranial pressure	63916	ELMO2	OMIM:606893
HP:0012640	Abnormality of intracranial pressure	2581	GALC	ORPHA:206436
HP:0012640	Abnormality of intracranial pressure	5660	PSAP	ORPHA:206436
HP:0012640	Abnormality of intracranial pressure	5573	PRKAR1A	ORPHA:280651
HP:0012640	Abnormality of intracranial pressure	5144	PDE4D	ORPHA:280651
HP:0012640	Abnormality of intracranial pressure	5144	PDE4D	ORPHA:439822
HP:0012640	Abnormality of intracranial pressure	5144	PDE4D	OMIM:614613
HP:0012640	Abnormality of intracranial pressure	1513	CTSK	ORPHA:763
HP:0012640	Abnormality of intracranial pressure	10483	SEC23B	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5728	PTEN	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5728	PTEN	ORPHA:65285
HP:0012640	Abnormality of intracranial pressure	6390	SDHB	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	6392	SDHD	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	6391	SDHC	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	205717	USF3	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	100144748	KLLN	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	3897	L1CAM	ORPHA:2182
HP:0012640	Abnormality of intracranial pressure	114548	NLRP3	ORPHA:1451
HP:0012640	Abnormality of intracranial pressure	60529	ALX4	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	84168	ANTXR1	ORPHA:2067
HP:0012640	Abnormality of intracranial pressure	149233	IL23R	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	6775	STAT4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3586	IL10	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	4210	MEFV	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	1230	CCR1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	355	FAS	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3592	IL12A	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	101928376	IL12A-AS1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3106	HLA-B	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	7099	TLR4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3459	IFNGR1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	720	C4A	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	337867	UBAC2	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	51752	ERAP1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	8302	KLRC4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	1499	CTNNB1	ORPHA:54595
HP:0012640	Abnormality of intracranial pressure	673	BRAF	ORPHA:54595
HP:0012640	Abnormality of intracranial pressure	6938	TCF12	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	7545	ZIC1	ORPHA:35099
HP:0012642	Cerebellar agenesis	124997	WDR81	OMIM:617967
HP:0012642	Cerebellar agenesis	2019	EN1	OMIM:619218
HP:0012642	Cerebellar agenesis	256297	PTF1A	OMIM:609069
HP:0012643	Foveal hypopigmentation	348	APOE	OMIM:603075
HP:0012643	Foveal hypopigmentation	83872	HMCN1	OMIM:603075
HP:0012643	Foveal hypopigmentation	3078	CFHR1	OMIM:603075
HP:0012643	Foveal hypopigmentation	10878	CFHR3	OMIM:603075
HP:0012645	Enlarged peripheral nerve	4000	LMNA	OMIM:151660
HP:0012646	Retractile testis	2516	NR5A1	OMIM:617480
HP:0012646	Retractile testis	51574	LARP7	OMIM:615071
HP:0012646	Retractile testis	6904	TBCD	OMIM:617193
HP:0012646	Retractile testis	5422	POLA1	ORPHA:163976
HP:0012647	Abnormal inflammatory response	3081	HGD	ORPHA:56
HP:0012647	Abnormal inflammatory response	7374	UNG	OMIM:608106
HP:0012647	Abnormal inflammatory response	7840	ALMS1	ORPHA:64
HP:0012647	Abnormal inflammatory response	9056	SLC7A7	ORPHA:470
HP:0012647	Abnormal inflammatory response	355	FAS	ORPHA:3261
HP:0012647	Abnormal inflammatory response	356	FASLG	ORPHA:3261
HP:0012647	Abnormal inflammatory response	5580	PRKCD	ORPHA:3261
HP:0012647	Abnormal inflammatory response	843	CASP10	ORPHA:3261
HP:0012647	Abnormal inflammatory response	10125	RASGRP1	ORPHA:3261
HP:0012647	Abnormal inflammatory response	720	C4A	OMIM:614380
HP:0012647	Abnormal inflammatory response	8651	SOCS1	OMIM:619375
HP:0012647	Abnormal inflammatory response	975	CD81	OMIM:613496
HP:0012647	Abnormal inflammatory response	3426	CFI	OMIM:610984
HP:0012647	Abnormal inflammatory response	1285	COL4A3	OMIM:104200
HP:0012647	Abnormal inflammatory response	50943	FOXP3	OMIM:304790
HP:0012647	Abnormal inflammatory response	81494	CFHR5	OMIM:614809
HP:0012647	Abnormal inflammatory response	4010	LMX1B	OMIM:161200
HP:0012647	Abnormal inflammatory response	4312	MMP1	ORPHA:79408
HP:0012647	Abnormal inflammatory response	1294	COL7A1	ORPHA:79408
HP:0012647	Abnormal inflammatory response	4311	MME	ORPHA:69063
HP:0012647	Abnormal inflammatory response	57728	WDR19	OMIM:614376
HP:0012647	Abnormal inflammatory response	81603	TRIM8	OMIM:619428
HP:0012647	Abnormal inflammatory response	7369	UMOD	OMIM:162000
HP:0012647	Abnormal inflammatory response	4613	MYCN	ORPHA:391641
HP:0012647	Abnormal inflammatory response	1286	COL4A4	OMIM:203780
HP:0012647	Abnormal inflammatory response	3162	HMOX1	OMIM:614034
HP:0012647	Abnormal inflammatory response	4627	MYH9	ORPHA:182050
HP:0012647	Abnormal inflammatory response	977	CD151	OMIM:609057
HP:0012647	Abnormal inflammatory response	847	CAT	ORPHA:926
HP:0012647	Abnormal inflammatory response	7852	CXCR4	ORPHA:51636
HP:0012647	Abnormal inflammatory response	1789	DNMT3B	OMIM:242860
HP:0012647	Abnormal inflammatory response	2947	GSTM3	ORPHA:586
HP:0012647	Abnormal inflammatory response	2729	GCLC	ORPHA:586
HP:0012647	Abnormal inflammatory response	1084	CEACAM3	ORPHA:586
HP:0012647	Abnormal inflammatory response	6556	SLC11A1	ORPHA:586
HP:0012647	Abnormal inflammatory response	51164	DCTN4	ORPHA:586
HP:0012647	Abnormal inflammatory response	3783	KCNN4	ORPHA:586
HP:0012647	Abnormal inflammatory response	1909	EDNRA	ORPHA:586
HP:0012647	Abnormal inflammatory response	115019	SLC26A9	ORPHA:586
HP:0012647	Abnormal inflammatory response	3077	HFE	ORPHA:586
HP:0012647	Abnormal inflammatory response	11254	SLC6A14	ORPHA:586
HP:0012647	Abnormal inflammatory response	22802	CLCA4	ORPHA:586
HP:0012647	Abnormal inflammatory response	4680	CEACAM6	ORPHA:586
HP:0012647	Abnormal inflammatory response	472	ATM	OMIM:208900
HP:0012647	Abnormal inflammatory response	3394	IRF8	OMIM:226990
HP:0012647	Abnormal inflammatory response	4763	NF1	ORPHA:363700
HP:0012647	Abnormal inflammatory response	6711	SPTBN1	OMIM:619475
HP:0012647	Abnormal inflammatory response	1387	CREBBP	ORPHA:353277
HP:0012647	Abnormal inflammatory response	1387	CREBBP	ORPHA:353281
HP:0012647	Abnormal inflammatory response	4860	PNP	OMIM:613179
HP:0012647	Abnormal inflammatory response	1186	CLCN7	ORPHA:667
HP:0012647	Abnormal inflammatory response	29887	SNX10	ORPHA:667
HP:0012647	Abnormal inflammatory response	8600	TNFSF11	ORPHA:667
HP:0012647	Abnormal inflammatory response	11011	TLK2	OMIM:618050
HP:0012647	Abnormal inflammatory response	4125	MAN2B1	ORPHA:309282
HP:0012647	Abnormal inflammatory response	2033	EP300	ORPHA:353284
HP:0012647	Abnormal inflammatory response	165918	RNF168	ORPHA:420741
HP:0012647	Abnormal inflammatory response	3590	IL11RA	OMIM:614188
HP:0012647	Abnormal inflammatory response	6804	STX1A	ORPHA:904
HP:0012647	Abnormal inflammatory response	7461	CLIP2	ORPHA:904
HP:0012647	Abnormal inflammatory response	84277	DNAJC30	ORPHA:904
HP:0012647	Abnormal inflammatory response	8468	FKBP6	ORPHA:904
HP:0012647	Abnormal inflammatory response	5982	RFC2	ORPHA:904
HP:0012647	Abnormal inflammatory response	2969	GTF2I	ORPHA:904
HP:0012647	Abnormal inflammatory response	3984	LIMK1	ORPHA:904
HP:0012647	Abnormal inflammatory response	9569	GTF2IRD1	ORPHA:904
HP:0012647	Abnormal inflammatory response	155382	VPS37D	ORPHA:904
HP:0012647	Abnormal inflammatory response	155368	METTL27	ORPHA:904
HP:0012647	Abnormal inflammatory response	114049	BUD23	ORPHA:904
HP:0012647	Abnormal inflammatory response	7458	EIF4H	ORPHA:904
HP:0012647	Abnormal inflammatory response	84163	GTF2IRD2	ORPHA:904
HP:0012647	Abnormal inflammatory response	9275	BCL7B	ORPHA:904
HP:0012647	Abnormal inflammatory response	26608	TBL2	ORPHA:904
HP:0012647	Abnormal inflammatory response	135886	TMEM270	ORPHA:904
HP:0012647	Abnormal inflammatory response	9031	BAZ1B	ORPHA:904
HP:0012647	Abnormal inflammatory response	6890	TAP1	OMIM:604571
HP:0012647	Abnormal inflammatory response	6891	TAP2	OMIM:604571
HP:0012647	Abnormal inflammatory response	6892	TAPBP	OMIM:604571
HP:0012647	Abnormal inflammatory response	2624	GATA2	ORPHA:3226
HP:0012647	Abnormal inflammatory response	64324	NSD1	ORPHA:821
HP:0012647	Abnormal inflammatory response	10297	APC2	ORPHA:821
HP:0012647	Abnormal inflammatory response	29123	ANKRD11	ORPHA:261250
HP:0012647	Abnormal inflammatory response	25790	CFAP45	OMIM:619608
HP:0012647	Abnormal inflammatory response	2314	FLII	ORPHA:819
HP:0012647	Abnormal inflammatory response	23096	IQSEC2	ORPHA:819
HP:0012647	Abnormal inflammatory response	10743	RAI1	ORPHA:819
HP:0012647	Abnormal inflammatory response	10522	DEAF1	ORPHA:819
HP:0012647	Abnormal inflammatory response	23483	TGDS	ORPHA:1388
HP:0012647	Abnormal inflammatory response	64359	NXN	ORPHA:1507
HP:0012647	Abnormal inflammatory response	4920	ROR2	ORPHA:1507
HP:0012647	Abnormal inflammatory response	8604	SLC25A12	OMIM:612949
HP:0012647	Abnormal inflammatory response	10815	CPLX1	ORPHA:280
HP:0012647	Abnormal inflammatory response	54872	PIGG	ORPHA:280
HP:0012647	Abnormal inflammatory response	7469	NELFA	ORPHA:280
HP:0012647	Abnormal inflammatory response	1487	CTBP1	ORPHA:280
HP:0012647	Abnormal inflammatory response	3954	LETM1	ORPHA:280
HP:0012647	Abnormal inflammatory response	7468	NSD2	ORPHA:280
HP:0012647	Abnormal inflammatory response	7161	TP73	OMIM:619466
HP:0012647	Abnormal inflammatory response	860	RUNX2	ORPHA:1452
HP:0012647	Abnormal inflammatory response	4790	NFKB1	ORPHA:1572
HP:0012647	Abnormal inflammatory response	8742	TNFSF12	ORPHA:1572
HP:0012647	Abnormal inflammatory response	931	MS4A1	ORPHA:1572
HP:0012647	Abnormal inflammatory response	100	ADA	ORPHA:277
HP:0012647	Abnormal inflammatory response	4791	NFKB2	ORPHA:293978
HP:0012647	Abnormal inflammatory response	4791	NFKB2	OMIM:615577
HP:0012647	Abnormal inflammatory response	3071	NCKAP1L	OMIM:618982
HP:0012647	Abnormal inflammatory response	8367	H4C5	OMIM:619950
HP:0012647	Abnormal inflammatory response	5880	RAC2	OMIM:618986
HP:0012647	Abnormal inflammatory response	64682	ANAPC1	OMIM:618625
HP:0012647	Abnormal inflammatory response	7174	TPP2	ORPHA:444463
HP:0012647	Abnormal inflammatory response	7174	TPP2	OMIM:619220
HP:0012647	Abnormal inflammatory response	9839	ZEB2	OMIM:235730
HP:0012647	Abnormal inflammatory response	9839	ZEB2	ORPHA:261552
HP:0012647	Abnormal inflammatory response	9839	ZEB2	ORPHA:261537
HP:0012647	Abnormal inflammatory response	80232	WDR26	ORPHA:513456
HP:0012647	Abnormal inflammatory response	80232	WDR26	OMIM:617616
HP:0012647	Abnormal inflammatory response	89765	RSPH1	OMIM:615481
HP:0012647	Abnormal inflammatory response	89765	RSPH1	ORPHA:244
HP:0012647	Abnormal inflammatory response	161582	DNAAF4	OMIM:615482
HP:0012647	Abnormal inflammatory response	161582	DNAAF4	ORPHA:244
HP:0012647	Abnormal inflammatory response	9578	CDC42BPB	OMIM:619841
HP:0012647	Abnormal inflammatory response	4487	MSX1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	5818	NECTIN1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	1739	DLG1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	652	BMP4	ORPHA:199306
HP:0012647	Abnormal inflammatory response	999	CDH1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	5156	PDGFRA	ORPHA:199306
HP:0012647	Abnormal inflammatory response	3664	IRF6	ORPHA:199306
HP:0012647	Abnormal inflammatory response	9411	ARHGAP29	ORPHA:199306
HP:0012647	Abnormal inflammatory response	1748	DLX4	ORPHA:199306
HP:0012647	Abnormal inflammatory response	51111	KMT5B	OMIM:617788
HP:0012647	Abnormal inflammatory response	146845	CFAP52	OMIM:619607
HP:0012647	Abnormal inflammatory response	973	CD79A	OMIM:613501
HP:0012647	Abnormal inflammatory response	3543	IGLL1	OMIM:613500
HP:0012647	Abnormal inflammatory response	6595	SMARCA2	ORPHA:2728
HP:0012647	Abnormal inflammatory response	144568	A2ML1	OMIM:166760
HP:0012647	Abnormal inflammatory response	29760	BLNK	OMIM:613502
HP:0012647	Abnormal inflammatory response	79158	GNPTAB	OMIM:252500
HP:0012647	Abnormal inflammatory response	8382	NME5	OMIM:620032
HP:0012647	Abnormal inflammatory response	1301	COL11A1	OMIM:154780
HP:0012647	Abnormal inflammatory response	54	ACP5	OMIM:607944
HP:0012647	Abnormal inflammatory response	56992	KIF15	ORPHA:261323
HP:0012647	Abnormal inflammatory response	23495	TNFRSF13B	OMIM:240500
HP:0012647	Abnormal inflammatory response	115650	TNFRSF13C	OMIM:240500
HP:0012647	Abnormal inflammatory response	1380	CR2	OMIM:240500
HP:0012647	Abnormal inflammatory response	29851	ICOS	OMIM:240500
HP:0012647	Abnormal inflammatory response	29851	ICOS	OMIM:607594
HP:0012647	Abnormal inflammatory response	930	CD19	OMIM:240500
HP:0012647	Abnormal inflammatory response	930	CD19	OMIM:613493
HP:0012647	Abnormal inflammatory response	123872	DNAAF1	OMIM:613193
HP:0012647	Abnormal inflammatory response	123872	DNAAF1	ORPHA:244
HP:0012647	Abnormal inflammatory response	284058	KANSL1	ORPHA:363958
HP:0012647	Abnormal inflammatory response	284058	KANSL1	ORPHA:363965
HP:0012647	Abnormal inflammatory response	3572	IL6ST	OMIM:618523
HP:0012647	Abnormal inflammatory response	8546	AP3B1	OMIM:608233
HP:0012647	Abnormal inflammatory response	1717	DHCR7	OMIM:270400
HP:0012647	Abnormal inflammatory response	28755	TRAC	OMIM:615387
HP:0012647	Abnormal inflammatory response	6885	MAP3K7	OMIM:157800
HP:0012647	Abnormal inflammatory response	2783	GNB2	OMIM:619503
HP:0012647	Abnormal inflammatory response	3425	IDUA	OMIM:607014
HP:0012647	Abnormal inflammatory response	2214	FCGR3A	OMIM:615707
HP:0012647	Abnormal inflammatory response	30011	SH3KBP1	OMIM:300310
HP:0012647	Abnormal inflammatory response	2261	FGFR3	OMIM:616482
HP:0012647	Abnormal inflammatory response	2261	FGFR3	OMIM:100800
HP:0012647	Abnormal inflammatory response	2261	FGFR3	OMIM:602849
HP:0012647	Abnormal inflammatory response	83861	RSPH3	OMIM:616481
HP:0012647	Abnormal inflammatory response	83861	RSPH3	ORPHA:244
HP:0012647	Abnormal inflammatory response	56006	SMG9	OMIM:619995
HP:0012647	Abnormal inflammatory response	8260	NAA10	OMIM:309800
HP:0012647	Abnormal inflammatory response	8260	NAA10	OMIM:300855
HP:0012647	Abnormal inflammatory response	54880	BCOR	OMIM:309800
HP:0012647	Abnormal inflammatory response	54914	FOCAD	OMIM:619991
HP:0012647	Abnormal inflammatory response	6135	RPL11	OMIM:612562
HP:0012647	Abnormal inflammatory response	64446	DNAI2	OMIM:612444
HP:0012647	Abnormal inflammatory response	64446	DNAI2	ORPHA:244
HP:0012647	Abnormal inflammatory response	8364	H4C3	OMIM:619758
HP:0012647	Abnormal inflammatory response	54499	TMCO1	OMIM:213980
HP:0012647	Abnormal inflammatory response	55343	SLC35C1	OMIM:266265
HP:0012647	Abnormal inflammatory response	55343	SLC35C1	ORPHA:99843
HP:0012647	Abnormal inflammatory response	3507	IGHM	OMIM:601495
HP:0012647	Abnormal inflammatory response	8314	BAP1	OMIM:619762
HP:0012647	Abnormal inflammatory response	27086	FOXP1	ORPHA:391372
HP:0012647	Abnormal inflammatory response	5594	MAPK1	OMIM:619087
HP:0012647	Abnormal inflammatory response	5971	RELB	OMIM:617585
HP:0012647	Abnormal inflammatory response	4256	MGP	ORPHA:85202
HP:0012647	Abnormal inflammatory response	4256	MGP	OMIM:245150
HP:0012647	Abnormal inflammatory response	974	CD79B	OMIM:612692
HP:0012647	Abnormal inflammatory response	113179	ADAT3	OMIM:615286
HP:0012647	Abnormal inflammatory response	113179	ADAT3	ORPHA:363528
HP:0012647	Abnormal inflammatory response	54919	DNAAF5	OMIM:614874
HP:0012647	Abnormal inflammatory response	54919	DNAAF5	ORPHA:244
HP:0012647	Abnormal inflammatory response	917	CD3G	OMIM:615607
HP:0012647	Abnormal inflammatory response	51085	MLXIPL	OMIM:194050
HP:0012647	Abnormal inflammatory response	2006	ELN	OMIM:194050
HP:0012647	Abnormal inflammatory response	11128	POLR3A	ORPHA:3455
HP:0012647	Abnormal inflammatory response	3373	HYAL1	OMIM:601492
HP:0012647	Abnormal inflammatory response	2535	FZD2	OMIM:164745
HP:0012647	Abnormal inflammatory response	7030	TFE3	OMIM:301066
HP:0012647	Abnormal inflammatory response	92749	DRC1	OMIM:615294
HP:0012647	Abnormal inflammatory response	92749	DRC1	ORPHA:244
HP:0012647	Abnormal inflammatory response	3978	LIG1	OMIM:619774
HP:0012647	Abnormal inflammatory response	3423	IDS	OMIM:309900
HP:0012647	Abnormal inflammatory response	6603	SMARCD2	OMIM:617475
HP:0012647	Abnormal inflammatory response	84522	JAGN1	OMIM:616022
HP:0012647	Abnormal inflammatory response	6929	TCF3	OMIM:616941
HP:0012647	Abnormal inflammatory response	7994	KAT6A	OMIM:616268
HP:0012647	Abnormal inflammatory response	3551	IKBKB	OMIM:618204
HP:0012647	Abnormal inflammatory response	916	CD3E	OMIM:615615
HP:0012647	Abnormal inflammatory response	3930	LBR	OMIM:169400
HP:0012647	Abnormal inflammatory response	246176	GAS2L2	OMIM:618449
HP:0012647	Abnormal inflammatory response	246176	GAS2L2	ORPHA:244
HP:0012647	Abnormal inflammatory response	915	CD3D	OMIM:615617
HP:0012647	Abnormal inflammatory response	3514	IGKC	ORPHA:183675
HP:0012647	Abnormal inflammatory response	3501	IGHG2	ORPHA:183675
HP:0012647	Abnormal inflammatory response	51311	TLR8	OMIM:301078
HP:0012647	Abnormal inflammatory response	25981	DNAH1	ORPHA:244
HP:0012647	Abnormal inflammatory response	115948	ODAD3	ORPHA:244
HP:0012647	Abnormal inflammatory response	115948	ODAD3	OMIM:616037
HP:0012647	Abnormal inflammatory response	54768	HYDIN	ORPHA:244
HP:0012647	Abnormal inflammatory response	54768	HYDIN	OMIM:608647
HP:0012647	Abnormal inflammatory response	352909	DNAAF3	ORPHA:244
HP:0012647	Abnormal inflammatory response	27148	STK36	ORPHA:244
HP:0012647	Abnormal inflammatory response	27148	STK36	OMIM:619436
HP:0012647	Abnormal inflammatory response	51314	NME8	ORPHA:244
HP:0012647	Abnormal inflammatory response	54970	TTC12	ORPHA:244
HP:0012647	Abnormal inflammatory response	152110	NEK10	ORPHA:244
HP:0012647	Abnormal inflammatory response	8481	OFD1	ORPHA:244
HP:0012647	Abnormal inflammatory response	2302	FOXJ1	ORPHA:244
HP:0012647	Abnormal inflammatory response	221421	RSPH9	ORPHA:244
HP:0012647	Abnormal inflammatory response	85478	CCDC65	ORPHA:244
HP:0012647	Abnormal inflammatory response	85478	CCDC65	OMIM:615504
HP:0012647	Abnormal inflammatory response	55036	CCDC40	ORPHA:244
HP:0012647	Abnormal inflammatory response	55036	CCDC40	OMIM:613808
HP:0012647	Abnormal inflammatory response	51364	ZMYND10	ORPHA:244
HP:0012647	Abnormal inflammatory response	51364	ZMYND10	OMIM:615444
HP:0012647	Abnormal inflammatory response	6674	SPAG1	ORPHA:244
HP:0012647	Abnormal inflammatory response	6674	SPAG1	OMIM:615505
HP:0012647	Abnormal inflammatory response	83544	DNAL1	ORPHA:244
HP:0012647	Abnormal inflammatory response	83538	ODAD4	ORPHA:244
HP:0012647	Abnormal inflammatory response	200373	CFAP221	ORPHA:244
HP:0012647	Abnormal inflammatory response	374407	DNAJB13	ORPHA:244
HP:0012647	Abnormal inflammatory response	55172	DNAAF2	ORPHA:244
HP:0012647	Abnormal inflammatory response	2622	GAS8	ORPHA:244
HP:0012647	Abnormal inflammatory response	2622	GAS8	OMIM:616726
HP:0012647	Abnormal inflammatory response	23639	DNAAF11	ORPHA:244
HP:0012647	Abnormal inflammatory response	23639	DNAAF11	OMIM:614935
HP:0012647	Abnormal inflammatory response	27019	DNAI1	ORPHA:244
HP:0012647	Abnormal inflammatory response	345895	RSPH4A	ORPHA:244
HP:0012647	Abnormal inflammatory response	6103	RPGR	ORPHA:244
HP:0012647	Abnormal inflammatory response	388389	CCDC103	ORPHA:244
HP:0012647	Abnormal inflammatory response	388389	CCDC103	OMIM:614679
HP:0012647	Abnormal inflammatory response	93233	ODAD1	ORPHA:244
HP:0012647	Abnormal inflammatory response	93233	ODAD1	OMIM:615067
HP:0012647	Abnormal inflammatory response	55130	ODAD2	ORPHA:244
HP:0012647	Abnormal inflammatory response	55130	ODAD2	OMIM:615451
HP:0012647	Abnormal inflammatory response	1767	DNAH5	ORPHA:244
HP:0012647	Abnormal inflammatory response	1767	DNAH5	OMIM:608644
HP:0012647	Abnormal inflammatory response	345643	MCIDAS	ORPHA:244
HP:0012647	Abnormal inflammatory response	56683	CFAP298	ORPHA:244
HP:0012647	Abnormal inflammatory response	56683	CFAP298	OMIM:615500
HP:0012647	Abnormal inflammatory response	79925	SPEF2	ORPHA:244
HP:0012647	Abnormal inflammatory response	10309	CCNO	ORPHA:244
HP:0012647	Abnormal inflammatory response	115399	LRRC56	ORPHA:244
HP:0012647	Abnormal inflammatory response	115399	LRRC56	OMIM:618254
HP:0012647	Abnormal inflammatory response	139212	DNAAF6	ORPHA:244
HP:0012647	Abnormal inflammatory response	85016	CFAP300	ORPHA:244
HP:0012647	Abnormal inflammatory response	339829	CCDC39	ORPHA:244
HP:0012647	Abnormal inflammatory response	8701	DNAH11	ORPHA:244
HP:0012647	Abnormal inflammatory response	8701	DNAH11	OMIM:611884
HP:0012647	Abnormal inflammatory response	1770	DNAH9	ORPHA:244
HP:0012647	Abnormal inflammatory response	2742	GLRA2	OMIM:301076
HP:0012647	Abnormal inflammatory response	55023	PHIP	ORPHA:589905
HP:0012647	Abnormal inflammatory response	29072	SETD2	OMIM:616831
HP:0012647	Abnormal inflammatory response	2316	FLNA	OMIM:309350
HP:0012647	Abnormal inflammatory response	1642	DDB1	OMIM:619426
HP:0012647	Abnormal inflammatory response	388015	RTL1	ORPHA:254531
HP:0012647	Abnormal inflammatory response	388015	RTL1	ORPHA:96184
HP:0012647	Abnormal inflammatory response	8788	DLK1	ORPHA:254531
HP:0012647	Abnormal inflammatory response	8788	DLK1	ORPHA:96184
HP:0012647	Abnormal inflammatory response	55384	MEG3	ORPHA:254531
HP:0012647	Abnormal inflammatory response	55384	MEG3	ORPHA:96184
HP:0012647	Abnormal inflammatory response	4683	NBN	OMIM:251260
HP:0012647	Abnormal inflammatory response	10806	SDCCAG8	OMIM:615993
HP:0012647	Abnormal inflammatory response	100151683	RNU4ATAC	ORPHA:353298
HP:0012647	Abnormal inflammatory response	100151683	RNU4ATAC	OMIM:616651
HP:0012647	Abnormal inflammatory response	9094	UNC119	OMIM:615518
HP:0012647	Abnormal inflammatory response	79650	USB1	OMIM:604173
HP:0012647	Abnormal inflammatory response	7314	UBB	ORPHA:99772
HP:0012647	Abnormal inflammatory response	57822	GRHL3	ORPHA:99772
HP:0012647	Abnormal inflammatory response	5575	PRKAR1B	OMIM:619680
HP:0012647	Abnormal inflammatory response	10847	SRCAP	OMIM:136140
HP:0012647	Abnormal inflammatory response	3718	JAK3	OMIM:600802
HP:0012647	Abnormal inflammatory response	11151	CORO1A	OMIM:615401
HP:0012647	Abnormal inflammatory response	4297	KMT2A	OMIM:605130
HP:0012647	Abnormal inflammatory response	57551	TAOK1	OMIM:619575
HP:0012647	Abnormal inflammatory response	84061	MAGT1	OMIM:300853
HP:0012647	Abnormal inflammatory response	2332	FMR1	ORPHA:449291
HP:0012647	Abnormal inflammatory response	6045	RNF2	OMIM:619460
HP:0012647	Abnormal inflammatory response	1280	COL2A1	OMIM:156550
HP:0012647	Abnormal inflammatory response	5718	PSMD12	ORPHA:529962
HP:0012647	Abnormal inflammatory response	2186	BPTF	ORPHA:529962
HP:0012647	Abnormal inflammatory response	1822	ATN1	OMIM:618494
HP:0012647	Abnormal inflammatory response	7403	KDM6A	OMIM:300867
HP:0012647	Abnormal inflammatory response	7403	KDM6A	OMIM:147920
HP:0012647	Abnormal inflammatory response	3560	IL2RB	OMIM:618495
HP:0012647	Abnormal inflammatory response	57003	CCDC47	OMIM:618268
HP:0012647	Abnormal inflammatory response	5977	DPF2	OMIM:618027
HP:0012647	Abnormal inflammatory response	55329	MNS1	OMIM:618948
HP:0012647	Abnormal inflammatory response	920	CD4	OMIM:619238
HP:0012647	Abnormal inflammatory response	3570	IL6R	OMIM:618944
HP:0012647	Abnormal inflammatory response	3575	IL7R	OMIM:608971
HP:0012647	Abnormal inflammatory response	23112	TNRC6B	OMIM:619243
HP:0012647	Abnormal inflammatory response	50615	IL21R	OMIM:615207
HP:0012647	Abnormal inflammatory response	5294	PIK3CG	OMIM:619802
HP:0012647	Abnormal inflammatory response	2799	GNS	OMIM:252940
HP:0012647	Abnormal inflammatory response	10551	AGR2	OMIM:620233
HP:0012647	Abnormal inflammatory response	84905	ZNF341	OMIM:618282
HP:0012647	Abnormal inflammatory response	5879	RAC1	OMIM:617751
HP:0012647	Abnormal inflammatory response	5879	RAC1	ORPHA:500159
HP:0012647	Abnormal inflammatory response	2990	GUSB	OMIM:253220
HP:0012647	Abnormal inflammatory response	5236	PGM1	OMIM:614921
HP:0012647	Abnormal inflammatory response	23765	IL17RA	OMIM:613953
HP:0012647	Abnormal inflammatory response	6850	SYK	OMIM:619381
HP:0012647	Abnormal inflammatory response	341208	HEPHL1	OMIM:261990
HP:0012647	Abnormal inflammatory response	721	C4B	OMIM:614379
HP:0012647	Abnormal inflammatory response	1794	DOCK2	OMIM:616433
HP:0012647	Abnormal inflammatory response	6736	SRY	ORPHA:1772
HP:0012647	Abnormal inflammatory response	5130	PCYT1A	OMIM:608940
HP:0012647	Abnormal inflammatory response	5696	PSMB8	OMIM:256040
HP:0012647	Abnormal inflammatory response	8085	KMT2D	OMIM:147920
HP:0012647	Abnormal inflammatory response	5080	PAX6	ORPHA:2334
HP:0012647	Abnormal inflammatory response	5080	PAX6	OMIM:148190
HP:0012647	Abnormal inflammatory response	6720	SREBF1	OMIM:619016
HP:0012647	Abnormal inflammatory response	6935	ZEB1	OMIM:613270
HP:0012647	Abnormal inflammatory response	8218	CLTCL1	ORPHA:453510
HP:0012647	Abnormal inflammatory response	23476	BRD4	ORPHA:199
HP:0012647	Abnormal inflammatory response	9126	SMC3	ORPHA:199
HP:0012647	Abnormal inflammatory response	25836	NIPBL	ORPHA:199
HP:0012647	Abnormal inflammatory response	55869	HDAC8	ORPHA:199
HP:0012647	Abnormal inflammatory response	5885	RAD21	ORPHA:199
HP:0012647	Abnormal inflammatory response	5980	REV3L	ORPHA:570
HP:0012647	Abnormal inflammatory response	23129	PLXND1	ORPHA:570
HP:0012647	Abnormal inflammatory response	6768	ST14	OMIM:602400
HP:0012647	Abnormal inflammatory response	9496	TBX4	ORPHA:261279
HP:0012647	Abnormal inflammatory response	80169	CTC1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	26277	TINF2	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55651	NHP2	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55135	WRAP53	ORPHA:1775
HP:0012647	Abnormal inflammatory response	4869	NPM1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7012	TERC	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55505	NOP10	ORPHA:1775
HP:0012647	Abnormal inflammatory response	5073	PARN	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7015	TERT	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7298	TYMS	ORPHA:1775
HP:0012647	Abnormal inflammatory response	5333	PLCD1	ORPHA:2387
HP:0012647	Abnormal inflammatory response	6307	MSMO1	OMIM:616834
HP:0012647	Abnormal inflammatory response	114548	NLRP3	OMIM:617772
HP:0012647	Abnormal inflammatory response	114548	NLRP3	OMIM:191900
HP:0012647	Abnormal inflammatory response	114548	NLRP3	ORPHA:575
HP:0012647	Abnormal inflammatory response	114548	NLRP3	ORPHA:47045
HP:0012647	Abnormal inflammatory response	114548	NLRP3	OMIM:120100
HP:0012647	Abnormal inflammatory response	1643	DDB2	OMIM:278740
HP:0012647	Abnormal inflammatory response	1736	DKC1	OMIM:305000
HP:0012647	Abnormal inflammatory response	1776	DNASE1L3	ORPHA:36412
HP:0012647	Abnormal inflammatory response	8675	STX16	ORPHA:94089
HP:0012647	Abnormal inflammatory response	7507	XPA	OMIM:278700
HP:0012647	Abnormal inflammatory response	1161	ERCC8	ORPHA:90321
HP:0012647	Abnormal inflammatory response	1161	ERCC8	ORPHA:90322
HP:0012647	Abnormal inflammatory response	2072	ERCC4	ORPHA:90321
HP:0012647	Abnormal inflammatory response	2074	ERCC6	ORPHA:90321
HP:0012647	Abnormal inflammatory response	2074	ERCC6	ORPHA:90322
HP:0012647	Abnormal inflammatory response	2074	ERCC6	OMIM:278800
HP:0012647	Abnormal inflammatory response	2067	ERCC1	ORPHA:90322
HP:0012647	Abnormal inflammatory response	55630	SLC39A4	ORPHA:37
HP:0012647	Abnormal inflammatory response	8676	STX11	OMIM:603552
HP:0012647	Abnormal inflammatory response	51360	MBTPS2	OMIM:308800
HP:0012647	Abnormal inflammatory response	51360	MBTPS2	ORPHA:2273
HP:0012647	Abnormal inflammatory response	5896	RAG1	OMIM:601457
HP:0012647	Abnormal inflammatory response	5897	RAG2	OMIM:601457
HP:0012647	Abnormal inflammatory response	162	AP1B1	OMIM:242150
HP:0012647	Abnormal inflammatory response	5075	PAX1	OMIM:615560
HP:0012647	Abnormal inflammatory response	5429	POLH	OMIM:278750
HP:0012647	Abnormal inflammatory response	5340	PLG	OMIM:217090
HP:0012647	Abnormal inflammatory response	65082	VPS33A	ORPHA:505248
HP:0012647	Abnormal inflammatory response	5692	PSMB4	OMIM:617591
HP:0012647	Abnormal inflammatory response	5698	PSMB9	OMIM:617591
HP:0012647	Abnormal inflammatory response	7037	TFRC	OMIM:616740
HP:0012647	Abnormal inflammatory response	2077	ERF	ORPHA:207
HP:0012647	Abnormal inflammatory response	2303	FOXC2	ORPHA:33001
HP:0012647	Abnormal inflammatory response	2303	FOXC2	OMIM:153400
HP:0012647	Abnormal inflammatory response	7508	XPC	OMIM:278720
HP:0012647	Abnormal inflammatory response	54809	SAMD9	OMIM:610455
HP:0012647	Abnormal inflammatory response	3321	IGSF3	OMIM:149700
HP:0012647	Abnormal inflammatory response	5295	PIK3R1	ORPHA:33110
HP:0012647	Abnormal inflammatory response	56262	LRRC8A	ORPHA:33110
HP:0012647	Abnormal inflammatory response	220202	ATOH7	OMIM:221900
HP:0012647	Abnormal inflammatory response	726	CAPN5	OMIM:193235
HP:0012647	Abnormal inflammatory response	939	CD27	OMIM:615122
HP:0012647	Abnormal inflammatory response	1281	COL3A1	OMIM:130050
HP:0012647	Abnormal inflammatory response	1281	COL3A1	ORPHA:286
HP:0012647	Abnormal inflammatory response	3689	ITGB2	OMIM:116920
HP:0012647	Abnormal inflammatory response	715	C1R	ORPHA:75392
HP:0012647	Abnormal inflammatory response	715	C1R	OMIM:130080
HP:0012647	Abnormal inflammatory response	2248	FGF3	ORPHA:2791
HP:0012647	Abnormal inflammatory response	92344	GORAB	OMIM:231070
HP:0012647	Abnormal inflammatory response	10312	TCIRG1	ORPHA:486
HP:0012647	Abnormal inflammatory response	2672	GFI1	ORPHA:486
HP:0012647	Abnormal inflammatory response	81570	CLPB	ORPHA:486
HP:0012647	Abnormal inflammatory response	375056	MIA3	OMIM:619269
HP:0012647	Abnormal inflammatory response	4853	NOTCH2	ORPHA:955
HP:0012647	Abnormal inflammatory response	165	AEBP1	ORPHA:536532
HP:0012647	Abnormal inflammatory response	4952	OCRL	ORPHA:534
HP:0012647	Abnormal inflammatory response	54345	SOX18	OMIM:137940
HP:0012647	Abnormal inflammatory response	84823	LMNB2	OMIM:608709
HP:0012647	Abnormal inflammatory response	712	C1QA	OMIM:613652
HP:0012647	Abnormal inflammatory response	8526	DGKE	OMIM:615008
HP:0012647	Abnormal inflammatory response	64421	DCLRE1C	ORPHA:275
HP:0012647	Abnormal inflammatory response	6909	TBX2	OMIM:618223
HP:0012647	Abnormal inflammatory response	10068	IL18BP	OMIM:618549
HP:0012647	Abnormal inflammatory response	5297	PI4KA	ORPHA:436252
HP:0012647	Abnormal inflammatory response	57217	TTC7A	ORPHA:436252
HP:0012647	Abnormal inflammatory response	5336	PLCG2	OMIM:614468
HP:0012647	Abnormal inflammatory response	5728	PTEN	ORPHA:109
HP:0012647	Abnormal inflammatory response	5428	POLG	ORPHA:94125
HP:0012647	Abnormal inflammatory response	1493	CTLA4	OMIM:140300
HP:0012647	Abnormal inflammatory response	27022	FOXD3	OMIM:607836
HP:0012647	Abnormal inflammatory response	83737	ITCH	OMIM:613385
HP:0012647	Abnormal inflammatory response	716	C1S	OMIM:613783
HP:0012647	Abnormal inflammatory response	51816	ADA2	OMIM:615688
HP:0012647	Abnormal inflammatory response	10483	SEC23B	OMIM:616858
HP:0012647	Abnormal inflammatory response	1027	CDKN1B	OMIM:610755
HP:0012647	Abnormal inflammatory response	1188	CLCNKB	ORPHA:358
HP:0012647	Abnormal inflammatory response	6559	SLC12A3	ORPHA:358
HP:0012647	Abnormal inflammatory response	8036	SHOC2	OMIM:607721
HP:0012647	Abnormal inflammatory response	2235	FECH	OMIM:177000
HP:0012647	Abnormal inflammatory response	2235	FECH	ORPHA:79278
HP:0012647	Abnormal inflammatory response	26960	NBEA	OMIM:619157
HP:0012647	Abnormal inflammatory response	6016	RIT1	OMIM:615355
HP:0012647	Abnormal inflammatory response	6777	STAT5B	OMIM:618985
HP:0012647	Abnormal inflammatory response	9759	HDAC4	ORPHA:1001
HP:0012647	Abnormal inflammatory response	9759	HDAC4	OMIM:600430
HP:0012647	Abnormal inflammatory response	114803	MYSM1	ORPHA:508542
HP:0012647	Abnormal inflammatory response	114803	MYSM1	OMIM:618116
HP:0012647	Abnormal inflammatory response	4522	MTHFD1	OMIM:617780
HP:0012647	Abnormal inflammatory response	3021	H3-3B	OMIM:619721
HP:0012647	Abnormal inflammatory response	841	CASP8	OMIM:607271
HP:0012647	Abnormal inflammatory response	79644	SRD5A3	OMIM:612379
HP:0012647	Abnormal inflammatory response	5053	PAH	OMIM:261600
HP:0012647	Abnormal inflammatory response	5053	PAH	ORPHA:79254
HP:0012647	Abnormal inflammatory response	9837	GINS1	OMIM:617827
HP:0012647	Abnormal inflammatory response	16	AARS1	OMIM:619691
HP:0012647	Abnormal inflammatory response	1896	EDA	OMIM:305100
HP:0012647	Abnormal inflammatory response	7780	SLC30A2	OMIM:608118
HP:0012647	Abnormal inflammatory response	7941	PLA2G7	OMIM:147050
HP:0012647	Abnormal inflammatory response	3566	IL4R	OMIM:147050
HP:0012647	Abnormal inflammatory response	2206	MS4A2	OMIM:147050
HP:0012647	Abnormal inflammatory response	6601	SMARCC2	OMIM:618362
HP:0012647	Abnormal inflammatory response	54496	PRMT7	OMIM:617157
HP:0012647	Abnormal inflammatory response	54496	PRMT7	ORPHA:464288
HP:0012647	Abnormal inflammatory response	816	CAMK2B	OMIM:617799
HP:0012647	Abnormal inflammatory response	6821	SUOX	OMIM:272300
HP:0012647	Abnormal inflammatory response	4478	MSN	OMIM:300988
HP:0012647	Abnormal inflammatory response	26053	AUTS2	ORPHA:352490
HP:0012647	Abnormal inflammatory response	51428	DDX41	OMIM:616871
HP:0012647	Abnormal inflammatory response	93627	TBCK	ORPHA:488632
HP:0012647	Abnormal inflammatory response	1474	CST6	OMIM:618535
HP:0012647	Abnormal inflammatory response	25942	SIN3A	OMIM:613406
HP:0012647	Abnormal inflammatory response	3981	LIG4	ORPHA:235
HP:0012647	Abnormal inflammatory response	54888	NSUN2	ORPHA:235
HP:0012647	Abnormal inflammatory response	54888	NSUN2	OMIM:611091
HP:0012647	Abnormal inflammatory response	10043	TOM1	ORPHA:391487
HP:0012647	Abnormal inflammatory response	10043	TOM1	OMIM:619510
HP:0012647	Abnormal inflammatory response	126695	KDF1	OMIM:617337
HP:0012647	Abnormal inflammatory response	126695	KDF1	ORPHA:1810
HP:0012647	Abnormal inflammatory response	25914	RTTN	ORPHA:468631
HP:0012647	Abnormal inflammatory response	55719	SLF2	OMIM:620184
HP:0012647	Abnormal inflammatory response	79092	CARD14	ORPHA:2897
HP:0012647	Abnormal inflammatory response	283209	PGM2L1	OMIM:620191
HP:0012647	Abnormal inflammatory response	6872	TAF1	OMIM:300966
HP:0012647	Abnormal inflammatory response	23387	SIK3	OMIM:618162
HP:0012647	Abnormal inflammatory response	2678	GGT1	OMIM:231950
HP:0012647	Abnormal inflammatory response	203190	LGI3	OMIM:620007
HP:0012647	Abnormal inflammatory response	9526	MPDU1	ORPHA:79323
HP:0012647	Abnormal inflammatory response	9333	TGM5	ORPHA:263534
HP:0012647	Abnormal inflammatory response	1475	CSTA	ORPHA:263534
HP:0012647	Abnormal inflammatory response	55181	SMG8	OMIM:619268
HP:0012647	Abnormal inflammatory response	56160	NSMCE3	OMIM:617241
HP:0012647	Abnormal inflammatory response	5426	POLE	OMIM:618336
HP:0012647	Abnormal inflammatory response	7189	TRAF6	ORPHA:1810
HP:0012647	Abnormal inflammatory response	128178	EDARADD	ORPHA:1810
HP:0012647	Abnormal inflammatory response	10913	EDAR	ORPHA:1810
HP:0012647	Abnormal inflammatory response	2312	FLG	OMIM:146700
HP:0012647	Abnormal inflammatory response	6696	SPP1	ORPHA:93552
HP:0012647	Abnormal inflammatory response	3654	IRAK1	ORPHA:93552
HP:0012647	Abnormal inflammatory response	5551	PRF1	ORPHA:540
HP:0012647	Abnormal inflammatory response	5551	PRF1	OMIM:603553
HP:0012647	Abnormal inflammatory response	201294	UNC13D	ORPHA:540
HP:0012647	Abnormal inflammatory response	6813	STXBP2	ORPHA:540
HP:0012647	Abnormal inflammatory response	58484	NLRC4	OMIM:616050
HP:0012647	Abnormal inflammatory response	55788	LMBRD1	OMIM:277380
HP:0012647	Abnormal inflammatory response	55788	LMBRD1	ORPHA:79284
HP:0012647	Abnormal inflammatory response	3141	HLCS	OMIM:253270
HP:0012647	Abnormal inflammatory response	134218	DNAJC21	ORPHA:811
HP:0012647	Abnormal inflammatory response	79631	EFL1	ORPHA:811
HP:0012647	Abnormal inflammatory response	51119	SBDS	ORPHA:811
HP:0012647	Abnormal inflammatory response	6729	SRP54	ORPHA:811
HP:0012647	Abnormal inflammatory response	5699	PSMB10	OMIM:619175
HP:0012647	Abnormal inflammatory response	7128	TNFAIP3	OMIM:616744
HP:0012647	Abnormal inflammatory response	340061	STING1	OMIM:615934
HP:0012647	Abnormal inflammatory response	84818	IL17RC	ORPHA:1334
HP:0012647	Abnormal inflammatory response	64581	CLEC7A	ORPHA:1334
HP:0012647	Abnormal inflammatory response	112744	IL17F	ORPHA:1334
HP:0012647	Abnormal inflammatory response	7010	TEK	ORPHA:1059
HP:0012647	Abnormal inflammatory response	23152	CIC	OMIM:617600
HP:0012647	Abnormal inflammatory response	2697	GJA1	ORPHA:317
HP:0012647	Abnormal inflammatory response	2707	GJB3	ORPHA:317
HP:0012647	Abnormal inflammatory response	2531	KDSR	ORPHA:317
HP:0012647	Abnormal inflammatory response	127534	GJB4	ORPHA:317
HP:0012647	Abnormal inflammatory response	84701	COX4I2	OMIM:612714
HP:0012647	Abnormal inflammatory response	4069	LYZ	OMIM:105200
HP:0012647	Abnormal inflammatory response	2243	FGA	OMIM:105200
HP:0012647	Abnormal inflammatory response	335	APOA1	OMIM:105200
HP:0012647	Abnormal inflammatory response	567	B2M	OMIM:105200
HP:0012647	Abnormal inflammatory response	8517	IKBKG	ORPHA:464
HP:0012647	Abnormal inflammatory response	8647	ABCB11	ORPHA:69665
HP:0012647	Abnormal inflammatory response	9971	NR1H4	ORPHA:69665
HP:0012647	Abnormal inflammatory response	5788	PTPRC	OMIM:619924
HP:0012647	Abnormal inflammatory response	3557	IL1RN	OMIM:612852
HP:0012647	Abnormal inflammatory response	2073	ERCC5	ORPHA:220295
HP:0012647	Abnormal inflammatory response	91662	NLRP12	OMIM:611762
HP:0012647	Abnormal inflammatory response	55739	NAXD	OMIM:618321
HP:0012647	Abnormal inflammatory response	51371	POMP	OMIM:618048
HP:0012647	Abnormal inflammatory response	3937	LCP2	OMIM:619374
HP:0012647	Abnormal inflammatory response	6389	SDHA	ORPHA:44890
HP:0012647	Abnormal inflammatory response	6390	SDHB	ORPHA:44890
HP:0012647	Abnormal inflammatory response	6391	SDHC	ORPHA:44890
HP:0012647	Abnormal inflammatory response	3815	KIT	ORPHA:44890
HP:0012647	Abnormal inflammatory response	340024	SLC6A19	ORPHA:2116
HP:0012647	Abnormal inflammatory response	57393	CLTRN	ORPHA:2116
HP:0012647	Abnormal inflammatory response	3458	IFNG	OMIM:618963
HP:0012647	Abnormal inflammatory response	641	BLM	ORPHA:125
HP:0012647	Abnormal inflammatory response	10892	MALT1	OMIM:615468
HP:0012647	Abnormal inflammatory response	9181	ARHGEF2	OMIM:617523
HP:0012647	Abnormal inflammatory response	940	CD28	ORPHA:2584
HP:0012647	Abnormal inflammatory response	7133	TNFRSF1B	ORPHA:2584
HP:0012647	Abnormal inflammatory response	204	AK2	ORPHA:33355
HP:0012647	Abnormal inflammatory response	56916	SMARCAD1	ORPHA:1658
HP:0012647	Abnormal inflammatory response	11005	SPINK5	ORPHA:634
HP:0012647	Abnormal inflammatory response	3909	LAMA3	ORPHA:79404
HP:0012647	Abnormal inflammatory response	3918	LAMC2	ORPHA:79404
HP:0012647	Abnormal inflammatory response	3914	LAMB3	ORPHA:79404
HP:0012647	Abnormal inflammatory response	3587	IL10RA	OMIM:613148
HP:0012647	Abnormal inflammatory response	695	BTK	OMIM:300755
HP:0012647	Abnormal inflammatory response	695	BTK	OMIM:307200
HP:0012647	Abnormal inflammatory response	126410	CYP4F22	OMIM:604777
HP:0012647	Abnormal inflammatory response	126410	CYP4F22	ORPHA:313
HP:0012647	Abnormal inflammatory response	7051	TGM1	OMIM:242300
HP:0012647	Abnormal inflammatory response	7051	TGM1	ORPHA:100976
HP:0012647	Abnormal inflammatory response	7051	TGM1	ORPHA:79394
HP:0012647	Abnormal inflammatory response	7051	TGM1	ORPHA:313
HP:0012647	Abnormal inflammatory response	3858	KRT10	ORPHA:312
HP:0012647	Abnormal inflammatory response	3858	KRT10	OMIM:609165
HP:0012647	Abnormal inflammatory response	348938	NIPAL4	OMIM:612281
HP:0012647	Abnormal inflammatory response	348938	NIPAL4	ORPHA:79394
HP:0012647	Abnormal inflammatory response	348938	NIPAL4	ORPHA:313
HP:0012647	Abnormal inflammatory response	6023	RMRP	ORPHA:39041
HP:0012647	Abnormal inflammatory response	55636	CHD7	ORPHA:39041
HP:0012647	Abnormal inflammatory response	10999	SLC27A4	OMIM:608649
HP:0012647	Abnormal inflammatory response	2137	EXTL3	OMIM:617425
HP:0012647	Abnormal inflammatory response	6785	ELOVL4	OMIM:133190
HP:0012647	Abnormal inflammatory response	26154	ABCA12	ORPHA:457
HP:0012647	Abnormal inflammatory response	26154	ABCA12	ORPHA:79394
HP:0012647	Abnormal inflammatory response	26154	ABCA12	ORPHA:313
HP:0012647	Abnormal inflammatory response	57609	DIP2B	OMIM:136630
HP:0012647	Abnormal inflammatory response	4047	LSS	OMIM:618840
HP:0012647	Abnormal inflammatory response	10682	EBP	OMIM:302960
HP:0012647	Abnormal inflammatory response	10682	EBP	ORPHA:35173
HP:0012647	Abnormal inflammatory response	204219	CERS3	OMIM:615023
HP:0012647	Abnormal inflammatory response	204219	CERS3	ORPHA:79394
HP:0012647	Abnormal inflammatory response	285848	PNPLA1	OMIM:615024
HP:0012647	Abnormal inflammatory response	285848	PNPLA1	ORPHA:79394
HP:0012647	Abnormal inflammatory response	242	ALOX12B	ORPHA:79394
HP:0012647	Abnormal inflammatory response	242	ALOX12B	ORPHA:313
HP:0012647	Abnormal inflammatory response	59344	ALOXE3	ORPHA:79394
HP:0012647	Abnormal inflammatory response	59344	ALOXE3	ORPHA:313
HP:0012647	Abnormal inflammatory response	1828	DSG1	OMIM:615508
HP:0012647	Abnormal inflammatory response	151516	ASPRV1	ORPHA:313
HP:0012647	Abnormal inflammatory response	6820	SULT2B1	ORPHA:313
HP:0012647	Abnormal inflammatory response	643418	LIPN	ORPHA:313
HP:0012647	Abnormal inflammatory response	121214	SDR9C7	ORPHA:313
HP:0012647	Abnormal inflammatory response	2615	LRRC32	OMIM:619074
HP:0012647	Abnormal inflammatory response	388698	FLG2	OMIM:618084
HP:0012647	Abnormal inflammatory response	10526	IPO8	OMIM:619472
HP:0012647	Abnormal inflammatory response	91754	NEK9	OMIM:614262
HP:0012647	Abnormal inflammatory response	1041	CDSN	ORPHA:90368
HP:0012647	Abnormal inflammatory response	121391	KRT74	ORPHA:90368
HP:0012647	Abnormal inflammatory response	84433	CARD11	OMIM:617638
HP:0012647	Abnormal inflammatory response	22800	RRAS2	OMIM:618624
HP:0012647	Abnormal inflammatory response	8456	FOXN1	OMIM:618806
HP:0012647	Abnormal inflammatory response	10060	ABCC9	OMIM:619719
HP:0012647	Abnormal inflammatory response	6340	SCNN1G	ORPHA:171876
HP:0012647	Abnormal inflammatory response	6337	SCNN1A	ORPHA:171876
HP:0012647	Abnormal inflammatory response	6338	SCNN1B	ORPHA:171876
HP:0012647	Abnormal inflammatory response	23102	TBC1D2B	ORPHA:397973
HP:0012647	Abnormal inflammatory response	3848	KRT1	ORPHA:530838
HP:0012647	Abnormal inflammatory response	3313	HSPA9	OMIM:616854
HP:0012647	Abnormal inflammatory response	22880	MORC2	ORPHA:466768
HP:0012647	Abnormal inflammatory response	3716	JAK1	OMIM:618999
HP:0012647	Abnormal inflammatory response	5290	PIK3CA	ORPHA:276280
HP:0012647	Abnormal inflammatory response	6578	SLCO2A1	OMIM:614441
HP:0012647	Abnormal inflammatory response	6578	SLCO2A1	OMIM:167100
HP:0012647	Abnormal inflammatory response	6578	SLCO2A1	ORPHA:2796
HP:0012647	Abnormal inflammatory response	7922	SLC39A7	OMIM:619693
HP:0012647	Abnormal inflammatory response	686	BTD	OMIM:253260
HP:0012647	Abnormal inflammatory response	79755	ZNF750	OMIM:610227
HP:0012647	Abnormal inflammatory response	64087	MCCC2	OMIM:210210
HP:0012647	Abnormal inflammatory response	9939	RBM8A	OMIM:274000
HP:0012647	Abnormal inflammatory response	3248	HPGD	OMIM:259100
HP:0012647	Abnormal inflammatory response	3248	HPGD	ORPHA:2796
HP:0012647	Abnormal inflammatory response	1312	COMT	ORPHA:567
HP:0012647	Abnormal inflammatory response	221037	JMJD1C	ORPHA:567
HP:0012647	Abnormal inflammatory response	2812	GP1BB	ORPHA:567
HP:0012647	Abnormal inflammatory response	6239	RREB1	ORPHA:567
HP:0012647	Abnormal inflammatory response	6899	TBX1	ORPHA:567
HP:0012647	Abnormal inflammatory response	6899	TBX1	OMIM:188400
HP:0012647	Abnormal inflammatory response	7290	HIRA	ORPHA:567
HP:0012647	Abnormal inflammatory response	9632	SEC24C	ORPHA:567
HP:0012647	Abnormal inflammatory response	7353	UFD1	ORPHA:567
HP:0012647	Abnormal inflammatory response	421	ARVCF	ORPHA:567
HP:0012647	Abnormal inflammatory response	11322	TMC6	ORPHA:302
HP:0012647	Abnormal inflammatory response	3574	IL7	ORPHA:302
HP:0012647	Abnormal inflammatory response	147138	TMC8	ORPHA:302
HP:0012647	Abnormal inflammatory response	10519	CIB1	ORPHA:302
HP:0012647	Abnormal inflammatory response	5277	PIGA	OMIM:300868
HP:0012647	Abnormal inflammatory response	5277	PIGA	OMIM:301072
HP:0012647	Abnormal inflammatory response	146206	CARMIL2	OMIM:618131
HP:0012647	Abnormal inflammatory response	10758	TRAF3IP2	OMIM:615527
HP:0012647	Abnormal inflammatory response	7086	TKT	ORPHA:488618
HP:0012647	Abnormal inflammatory response	4210	MEFV	ORPHA:342
HP:0012647	Abnormal inflammatory response	4210	MEFV	OMIM:249100
HP:0012647	Abnormal inflammatory response	4210	MEFV	OMIM:134610
HP:0012647	Abnormal inflammatory response	3832	KIF11	ORPHA:2526
HP:0012647	Abnormal inflammatory response	9508	ADAMTS3	ORPHA:2136
HP:0012647	Abnormal inflammatory response	147372	CCBE1	ORPHA:2136
HP:0012647	Abnormal inflammatory response	147372	CCBE1	OMIM:235510
HP:0012647	Abnormal inflammatory response	79633	FAT4	ORPHA:2136
HP:0012647	Abnormal inflammatory response	7132	TNFRSF1A	OMIM:142680
HP:0012647	Abnormal inflammatory response	7132	TNFRSF1A	ORPHA:32960
HP:0012647	Abnormal inflammatory response	2324	FLT4	ORPHA:79452
HP:0012647	Abnormal inflammatory response	57165	GJC2	ORPHA:79452
HP:0012647	Abnormal inflammatory response	374393	FAM111B	OMIM:615704
HP:0012647	Abnormal inflammatory response	9563	H6PD	OMIM:604931
HP:0012647	Abnormal inflammatory response	9051	PSTPIP1	OMIM:604416
HP:0012647	Abnormal inflammatory response	9051	PSTPIP1	ORPHA:69126
HP:0012647	Abnormal inflammatory response	5566	PRKACA	OMIM:615830
HP:0012647	Abnormal inflammatory response	5566	PRKACA	ORPHA:189439
HP:0012647	Abnormal inflammatory response	8622	PDE8B	ORPHA:189439
HP:0012647	Abnormal inflammatory response	5573	PRKAR1A	ORPHA:189439
HP:0012647	Abnormal inflammatory response	50940	PDE11A	ORPHA:189439
HP:0012647	Abnormal inflammatory response	54361	WNT4	ORPHA:247768
HP:0012647	Abnormal inflammatory response	54361	WNT4	OMIM:158330
HP:0012647	Abnormal inflammatory response	285590	SH3PXD2B	ORPHA:137834
HP:0012647	Abnormal inflammatory response	285590	SH3PXD2B	OMIM:249420
HP:0012647	Abnormal inflammatory response	9060	PAPSS2	OMIM:612847
HP:0012647	Abnormal inflammatory response	2908	NR3C1	ORPHA:786
HP:0012647	Abnormal inflammatory response	2908	NR3C1	ORPHA:96253
HP:0012647	Abnormal inflammatory response	2099	ESR1	ORPHA:785
HP:0012647	Abnormal inflammatory response	2099	ESR1	OMIM:615363
HP:0012647	Abnormal inflammatory response	79798	ARMC5	ORPHA:189427
HP:0012647	Abnormal inflammatory response	2778	GNAS	ORPHA:189427
HP:0012647	Abnormal inflammatory response	1584	CYP11B1	ORPHA:90795
HP:0012647	Abnormal inflammatory response	1893	ECM1	ORPHA:530
HP:0012647	Abnormal inflammatory response	9663	LPIN2	ORPHA:77297
HP:0012647	Abnormal inflammatory response	84196	USP48	ORPHA:96253
HP:0012647	Abnormal inflammatory response	7157	TP53	ORPHA:96253
HP:0012647	Abnormal inflammatory response	9101	USP8	ORPHA:96253
HP:0012647	Abnormal inflammatory response	64072	CDH23	ORPHA:96253
HP:0012647	Abnormal inflammatory response	673	BRAF	ORPHA:96253
HP:0012647	Abnormal inflammatory response	546	ATRX	ORPHA:96253
HP:0012647	Abnormal inflammatory response	1201	CLN3	ORPHA:228346
HP:0012647	Abnormal inflammatory response	3973	LHCGR	ORPHA:3000
HP:0012647	Abnormal inflammatory response	83550	GPR101	ORPHA:963
HP:0012647	Abnormal inflammatory response	9049	AIP	ORPHA:963
HP:0012647	Abnormal inflammatory response	64131	XYLT1	ORPHA:370930
HP:0012647	Abnormal inflammatory response	4212	MEIS2	ORPHA:261190
HP:0012647	Abnormal inflammatory response	175	AGA	OMIM:208400
HP:0012647	Abnormal inflammatory response	5167	ENPP1	ORPHA:758
HP:0012647	Abnormal inflammatory response	368	ABCC6	ORPHA:758
HP:0012647	Abnormal inflammatory response	367	AR	ORPHA:99429
HP:0012647	Abnormal inflammatory response	2263	FGFR2	OMIM:101200
HP:0012647	Abnormal inflammatory response	149233	IL23R	ORPHA:117
HP:0012647	Abnormal inflammatory response	6775	STAT4	ORPHA:117
HP:0012647	Abnormal inflammatory response	3586	IL10	ORPHA:117
HP:0012647	Abnormal inflammatory response	1230	CCR1	ORPHA:117
HP:0012647	Abnormal inflammatory response	3592	IL12A	ORPHA:117
HP:0012647	Abnormal inflammatory response	101928376	IL12A-AS1	ORPHA:117
HP:0012647	Abnormal inflammatory response	7099	TLR4	ORPHA:117
HP:0012647	Abnormal inflammatory response	337867	UBAC2	ORPHA:117
HP:0012647	Abnormal inflammatory response	51752	ERAP1	ORPHA:117
HP:0012647	Abnormal inflammatory response	8302	KLRC4	ORPHA:117
HP:0012647	Abnormal inflammatory response	79722	ANKRD55	ORPHA:85408
HP:0012647	Abnormal inflammatory response	5771	PTPN2	ORPHA:85408
HP:0012647	Abnormal inflammatory response	2255	FGF10	ORPHA:2363
HP:0012647	Abnormal inflammatory response	6335	SCN9A	OMIM:133020
HP:0012647	Abnormal inflammatory response	55699	IARS2	OMIM:616007
HP:0012647	Abnormal inflammatory response	4547	MTTP	ORPHA:14
HP:0012647	Abnormal inflammatory response	2934	GSN	ORPHA:85448
HP:0012647	Abnormal inflammatory response	4081	MAB21L1	OMIM:618479
HP:0012647	Abnormal inflammatory response	2200	FBN1	OMIM:616914
HP:0012647	Abnormal inflammatory response	59335	PRDM12	OMIM:616488
HP:0012647	Abnormal inflammatory response	83706	FERMT3	OMIM:612840
HP:0012647	Abnormal inflammatory response	54440	SASH3	OMIM:301082
HP:0012647	Abnormal inflammatory response	113189	CHST14	OMIM:601776
HP:0012647	Abnormal inflammatory response	113189	CHST14	ORPHA:2953
HP:0012647	Abnormal inflammatory response	10525	HYOU1	OMIM:233600
HP:0012647	Abnormal inflammatory response	4780	NFE2L2	OMIM:617744
HP:0012647	Abnormal inflammatory response	5317	PKP1	ORPHA:158668
HP:0012647	Abnormal inflammatory response	85358	SHANK3	ORPHA:48652
HP:0012647	Abnormal inflammatory response	29940	DSE	ORPHA:2953
HP:0012647	Abnormal inflammatory response	57591	MRTFA	OMIM:618847
HP:0012647	Abnormal inflammatory response	26258	BLOC1S6	OMIM:614171
HP:0012647	Abnormal inflammatory response	4153	MBL2	OMIM:614372
HP:0012647	Abnormal inflammatory response	3852	KRT5	ORPHA:79396
HP:0012647	Abnormal inflammatory response	3861	KRT14	ORPHA:79396
HP:0012647	Abnormal inflammatory response	8883	NAE1	OMIM:620210
HP:0012647	Abnormal inflammatory response	8974	P4HA2	ORPHA:397
HP:0012647	Abnormal inflammatory response	144811	LACC1	ORPHA:85414
HP:0012647	Abnormal inflammatory response	4282	MIF	ORPHA:85414
HP:0012647	Abnormal inflammatory response	3932	LCK	OMIM:615758
HP:0012647	Abnormal inflammatory response	4094	MAF	ORPHA:1272
HP:0012647	Abnormal inflammatory response	4094	MAF	OMIM:601088
HP:0012647	Abnormal inflammatory response	10216	PRG4	ORPHA:2848
HP:0012647	Abnormal inflammatory response	3662	IRF4	ORPHA:3452
HP:0012647	Abnormal inflammatory response	5373	PMM2	ORPHA:79318
HP:0012647	Abnormal inflammatory response	5373	PMM2	OMIM:212065
HP:0012647	Abnormal inflammatory response	2213	FCGR2B	OMIM:152700
HP:0012647	Abnormal inflammatory response	11277	TREX1	OMIM:152700
HP:0012647	Abnormal inflammatory response	1773	DNASE1	OMIM:152700
HP:0012647	Abnormal inflammatory response	3039	HBA1	ORPHA:163596
HP:0012647	Abnormal inflammatory response	3040	HBA2	ORPHA:163596
HP:0012647	Abnormal inflammatory response	4594	MMUT	ORPHA:289916
HP:0012647	Abnormal inflammatory response	4594	MMUT	OMIM:251000
HP:0012647	Abnormal inflammatory response	4594	MMUT	ORPHA:79312
HP:0012647	Abnormal inflammatory response	26160	IFT172	OMIM:619471
HP:0012647	Abnormal inflammatory response	1629	DBT	OMIM:248600
HP:0012647	Abnormal inflammatory response	593	BCKDHA	OMIM:248600
HP:0012647	Abnormal inflammatory response	594	BCKDHB	OMIM:248600
HP:0012647	Abnormal inflammatory response	26191	PTPN22	ORPHA:900
HP:0012647	Abnormal inflammatory response	3115	HLA-DPB1	ORPHA:900
HP:0012647	Abnormal inflammatory response	5657	PRTN3	ORPHA:900
HP:0012647	Abnormal inflammatory response	3113	HLA-DPA1	ORPHA:900
HP:0012647	Abnormal inflammatory response	4023	LPL	OMIM:238600
HP:0012647	Abnormal inflammatory response	1080	CFTR	OMIM:167800
HP:0012647	Abnormal inflammatory response	1080	CFTR	OMIM:219700
HP:0012647	Abnormal inflammatory response	11330	CTRC	OMIM:167800
HP:0012647	Abnormal inflammatory response	6690	SPINK1	OMIM:167800
HP:0012647	Abnormal inflammatory response	5645	PRSS2	OMIM:167800
HP:0012647	Abnormal inflammatory response	5644	PRSS1	OMIM:167800
HP:0012647	Abnormal inflammatory response	79577	CDC73	ORPHA:143
HP:0012647	Abnormal inflammatory response	79577	CDC73	ORPHA:99880
HP:0012647	Abnormal inflammatory response	57104	PNPLA2	ORPHA:565612
HP:0012647	Abnormal inflammatory response	5244	ABCB4	ORPHA:69663
HP:0012647	Abnormal inflammatory response	5244	ABCB4	OMIM:600803
HP:0012647	Abnormal inflammatory response	4722	NDUFS3	OMIM:618230
HP:0012647	Abnormal inflammatory response	63924	CIDEC	ORPHA:435651
HP:0012647	Abnormal inflammatory response	50485	SMARCAL1	ORPHA:1830
HP:0012647	Abnormal inflammatory response	10165	SLC25A13	OMIM:603471
HP:0012647	Abnormal inflammatory response	10165	SLC25A13	ORPHA:247585
HP:0012647	Abnormal inflammatory response	2212	FCGR2A	OMIM:219700
HP:0012647	Abnormal inflammatory response	7040	TGFB1	OMIM:219700
HP:0012647	Abnormal inflammatory response	10320	IKZF1	ORPHA:36426
HP:0012647	Abnormal inflammatory response	72	ACTG2	OMIM:155310
HP:0012647	Abnormal inflammatory response	2859	GPR35	ORPHA:171
HP:0012647	Abnormal inflammatory response	10507	SEMA4D	ORPHA:171
HP:0012647	Abnormal inflammatory response	4485	MST1	ORPHA:171
HP:0012647	Abnormal inflammatory response	6925	TCF4	ORPHA:171
HP:0012647	Abnormal inflammatory response	10273	STUB1	ORPHA:412057
HP:0012647	Abnormal inflammatory response	133686	NADK2	ORPHA:431361
HP:0012647	Abnormal inflammatory response	2538	G6PC1	OMIM:232200
HP:0012647	Abnormal inflammatory response	26007	TKFC	OMIM:618805
HP:0012647	Abnormal inflammatory response	5468	PPARG	ORPHA:79083
HP:0012647	Abnormal inflammatory response	875	CBS	OMIM:236200
HP:0012647	Abnormal inflammatory response	5095	PCCA	OMIM:606054
HP:0012647	Abnormal inflammatory response	5096	PCCB	OMIM:606054
HP:0012647	Abnormal inflammatory response	5205	ATP8B1	OMIM:243300
HP:0012647	Abnormal inflammatory response	1175	AP2S1	OMIM:600740
HP:0012647	Abnormal inflammatory response	9054	NFS1	OMIM:619386
HP:0012647	Abnormal inflammatory response	64788	LMF1	OMIM:246650
HP:0012647	Abnormal inflammatory response	344	APOC2	OMIM:207750
HP:0012647	Abnormal inflammatory response	846	CASR	OMIM:145980
HP:0012647	Abnormal inflammatory response	2767	GNA11	OMIM:145981
HP:0012647	Abnormal inflammatory response	7388	UQCRH	OMIM:620137
HP:0012647	Abnormal inflammatory response	338328	GPIHBP1	OMIM:615947
HP:0012647	Abnormal inflammatory response	2313	FLI1	ORPHA:370348
HP:0012647	Abnormal inflammatory response	3155	HMGCL	ORPHA:20
HP:0012647	Abnormal inflammatory response	100147744	RNU7-1	OMIM:619487
HP:0012647	Abnormal inflammatory response	286053	NSMCE2	OMIM:617253
HP:0012647	Abnormal inflammatory response	4000	LMNA	OMIM:151660
HP:0012647	Abnormal inflammatory response	26580	BSCL2	OMIM:269700
HP:0012647	Abnormal inflammatory response	79415	CYBC1	OMIM:618935
HP:0012647	Abnormal inflammatory response	348	APOE	ORPHA:412
HP:0012647	Abnormal inflammatory response	10555	AGPAT2	OMIM:608594
HP:0012647	Abnormal inflammatory response	22948	CCT5	OMIM:256840
HP:0012647	Abnormal inflammatory response	22948	CCT5	ORPHA:139578
HP:0012647	Abnormal inflammatory response	7879	RAB7A	OMIM:600882
HP:0012647	Abnormal inflammatory response	2165	F13B	ORPHA:331
HP:0012647	Abnormal inflammatory response	2162	F13A1	ORPHA:331
HP:0012647	Abnormal inflammatory response	3123	HLA-DRB1	OMIM:181000
HP:0012647	Abnormal inflammatory response	7454	WAS	OMIM:301000
HP:0012647	Abnormal inflammatory response	7454	WAS	ORPHA:906
HP:0012647	Abnormal inflammatory response	55612	FERMT1	ORPHA:2908
HP:0012647	Abnormal inflammatory response	331	XIAP	OMIM:300635
HP:0012647	Abnormal inflammatory response	10616	RBCK1	OMIM:615895
HP:0012647	Abnormal inflammatory response	5243	ABCB1	OMIM:612244
HP:0012647	Abnormal inflammatory response	6550	SLC9A3	OMIM:616868
HP:0012647	Abnormal inflammatory response	3257	HPS1	OMIM:203300
HP:0012647	Abnormal inflammatory response	987	LRBA	OMIM:614700
HP:0012647	Abnormal inflammatory response	7456	WIPF1	ORPHA:906
HP:0012647	Abnormal inflammatory response	8737	RIPK1	OMIM:618108
HP:0012647	Abnormal inflammatory response	10095	ARPC1B	OMIM:617718
HP:0012647	Abnormal inflammatory response	2542	SLC37A4	OMIM:232220
HP:0012647	Abnormal inflammatory response	2542	SLC37A4	OMIM:232240
HP:0012647	Abnormal inflammatory response	2542	SLC37A4	ORPHA:79259
HP:0012647	Abnormal inflammatory response	3106	HLA-B	OMIM:106300
HP:0012647	Abnormal inflammatory response	3106	HLA-B	ORPHA:29207
HP:0012647	Abnormal inflammatory response	5293	PIK3CD	OMIM:619281
HP:0012647	Abnormal inflammatory response	2000	ELF4	OMIM:301074
HP:0012647	Abnormal inflammatory response	64127	NOD2	OMIM:266600
HP:0012647	Abnormal inflammatory response	3569	IL6	OMIM:266600
HP:0012647	Abnormal inflammatory response	57511	COG6	OMIM:614576
HP:0012647	Abnormal inflammatory response	345611	IRGM	OMIM:612278
HP:0012647	Abnormal inflammatory response	59067	IL21	OMIM:615767
HP:0012647	Abnormal inflammatory response	64858	DCLRE1B	OMIM:620133
HP:0012647	Abnormal inflammatory response	411	ARSB	OMIM:253200
HP:0012647	Abnormal inflammatory response	10559	SLC35A1	ORPHA:238459
HP:0012647	Abnormal inflammatory response	2188	FANCF	OMIM:603467
HP:0012647	Abnormal inflammatory response	6445	SGCG	OMIM:253700
HP:0012647	Abnormal inflammatory response	4534	MTM1	ORPHA:596
HP:0012647	Abnormal inflammatory response	7092	TLL1	ORPHA:99103
HP:0012647	Abnormal inflammatory response	57057	TBX20	ORPHA:99103
HP:0012647	Abnormal inflammatory response	4624	MYH6	ORPHA:99103
HP:0012647	Abnormal inflammatory response	1482	NKX2-5	ORPHA:99103
HP:0012647	Abnormal inflammatory response	70	ACTC1	ORPHA:99103
HP:0012647	Abnormal inflammatory response	10370	CITED2	ORPHA:99103
HP:0012647	Abnormal inflammatory response	2626	GATA4	ORPHA:99103
HP:0012647	Abnormal inflammatory response	2627	GATA6	ORPHA:99103
HP:0012647	Abnormal inflammatory response	28962	OSTM1	ORPHA:85179
HP:0012647	Abnormal inflammatory response	9841	ZBTB24	OMIM:614069
HP:0012647	Abnormal inflammatory response	374879	ZNF699	OMIM:619488
HP:0012647	Abnormal inflammatory response	2215	FCGR3B	ORPHA:464370
HP:0012647	Abnormal inflammatory response	775	CACNA1C	OMIM:601005
HP:0012647	Abnormal inflammatory response	6261	RYR1	ORPHA:98905
HP:0012647	Abnormal inflammatory response	5903	RANBP2	OMIM:608033
HP:0012647	Abnormal inflammatory response	80199	FUZ	ORPHA:1136
HP:0012647	Abnormal inflammatory response	6440	SFTPC	ORPHA:70587
HP:0012647	Abnormal inflammatory response	21	ABCA3	ORPHA:70587
HP:0012647	Abnormal inflammatory response	6439	SFTPB	ORPHA:70587
HP:0012647	Abnormal inflammatory response	4054	LTBP3	OMIM:617809
HP:0012647	Abnormal inflammatory response	3476	IGBP1	OMIM:300472
HP:0012647	Abnormal inflammatory response	79848	CSPP1	ORPHA:397715
HP:0012647	Abnormal inflammatory response	9786	KIAA0586	ORPHA:397715
HP:0012647	Abnormal inflammatory response	4914	NTRK1	ORPHA:642
HP:0012647	Abnormal inflammatory response	4784	NFIX	OMIM:602535
HP:0012647	Abnormal inflammatory response	427	ASAH1	ORPHA:2590
HP:0012647	Abnormal inflammatory response	23556	PIGN	ORPHA:280633
HP:0012647	Abnormal inflammatory response	2629	GBA1	OMIM:230900
HP:0012647	Abnormal inflammatory response	535	ATP6V0A1	OMIM:619971
HP:0012647	Abnormal inflammatory response	4281	MID1	ORPHA:2745
HP:0012647	Abnormal inflammatory response	29957	SLC25A24	OMIM:612289
HP:0012647	Abnormal inflammatory response	9361	LONP1	ORPHA:79243
HP:0012647	Abnormal inflammatory response	5160	PDHA1	ORPHA:79243
HP:0012647	Abnormal inflammatory response	3431	SP110	ORPHA:79124
HP:0012647	Abnormal inflammatory response	378884	NHLRC1	ORPHA:501
HP:0012647	Abnormal inflammatory response	7957	EPM2A	ORPHA:501
HP:0012647	Abnormal inflammatory response	3119	HLA-DQB1	ORPHA:930
HP:0012647	Abnormal inflammatory response	9244	CRLF1	ORPHA:930
HP:0012647	Abnormal inflammatory response	3117	HLA-DQA1	ORPHA:930
HP:0012647	Abnormal inflammatory response	4842	NOS1	ORPHA:930
HP:0012647	Abnormal inflammatory response	90417	KNSTRN	ORPHA:221139
HP:0012647	Abnormal inflammatory response	10755	GIPC1	ORPHA:98897
HP:0012647	Abnormal inflammatory response	100996717	NOTCH2NLC	ORPHA:98897
HP:0012647	Abnormal inflammatory response	51750	RTEL1	OMIM:615190
HP:0012647	Abnormal inflammatory response	5422	POLA1	OMIM:301220
HP:0012647	Abnormal inflammatory response	10625	IVNS1ABP	OMIM:618969
HP:0012647	Abnormal inflammatory response	6499	SKIC2	OMIM:614602
HP:0012647	Abnormal inflammatory response	6499	SKIC2	ORPHA:84064
HP:0012647	Abnormal inflammatory response	8915	BCL10	OMIM:616098
HP:0012647	Abnormal inflammatory response	23149	FCHO1	OMIM:619164
HP:0012647	Abnormal inflammatory response	9652	SKIC3	ORPHA:84064
HP:0012647	Abnormal inflammatory response	4689	NCF4	OMIM:613960
HP:0012647	Abnormal inflammatory response	811	CALR	ORPHA:131
HP:0012647	Abnormal inflammatory response	3717	JAK2	ORPHA:131
HP:0012647	Abnormal inflammatory response	2153	F5	ORPHA:131
HP:0012647	Abnormal inflammatory response	4629	MYH11	OMIM:619351
HP:0012647	Abnormal inflammatory response	629	CFB	OMIM:615561
HP:0012647	Abnormal inflammatory response	672	BRCA1	ORPHA:168829
HP:0012647	Abnormal inflammatory response	1991	ELANE	ORPHA:2686
HP:0012647	Abnormal inflammatory response	4868	NPHS1	ORPHA:656
HP:0012647	Abnormal inflammatory response	23607	CD2AP	ORPHA:656
HP:0012647	Abnormal inflammatory response	9688	NUP93	ORPHA:656
HP:0012647	Abnormal inflammatory response	4643	MYO1E	ORPHA:656
HP:0012647	Abnormal inflammatory response	64423	INF2	ORPHA:656
HP:0012647	Abnormal inflammatory response	26130	GAPVD1	ORPHA:656
HP:0012647	Abnormal inflammatory response	7490	WT1	ORPHA:656
HP:0012647	Abnormal inflammatory response	57122	NUP107	ORPHA:656
HP:0012647	Abnormal inflammatory response	51479	ANKFY1	ORPHA:656
HP:0012647	Abnormal inflammatory response	54443	ANLN	ORPHA:656
HP:0012647	Abnormal inflammatory response	5800	PTPRO	ORPHA:656
HP:0012647	Abnormal inflammatory response	286204	CRB2	ORPHA:656
HP:0012647	Abnormal inflammatory response	23165	NUP205	ORPHA:656
HP:0012647	Abnormal inflammatory response	2013	EMP2	ORPHA:656
HP:0012647	Abnormal inflammatory response	79023	NUP37	ORPHA:656
HP:0012647	Abnormal inflammatory response	51196	PLCE1	ORPHA:656
HP:0012647	Abnormal inflammatory response	79902	NUP85	ORPHA:656
HP:0012647	Abnormal inflammatory response	396	ARHGDIA	ORPHA:656
HP:0012647	Abnormal inflammatory response	79934	COQ8B	ORPHA:656
HP:0012647	Abnormal inflammatory response	23279	NUP160	ORPHA:656
HP:0012647	Abnormal inflammatory response	9863	MAGI2	ORPHA:656
HP:0012647	Abnormal inflammatory response	81	ACTN4	ORPHA:656
HP:0012647	Abnormal inflammatory response	7225	TRPC6	ORPHA:656
HP:0012647	Abnormal inflammatory response	8542	APOL1	ORPHA:656
HP:0012647	Abnormal inflammatory response	54885	TBC1D8B	ORPHA:656
HP:0012647	Abnormal inflammatory response	7827	NPHS2	ORPHA:656
HP:0012647	Abnormal inflammatory response	83478	ARHGAP24	ORPHA:656
HP:0012647	Abnormal inflammatory response	23500	DAAM2	ORPHA:656
HP:0012647	Abnormal inflammatory response	5076	PAX2	ORPHA:656
HP:0012647	Abnormal inflammatory response	55746	NUP133	ORPHA:656
HP:0012647	Abnormal inflammatory response	57724	EPG5	OMIM:242840
HP:0012647	Abnormal inflammatory response	9842	PLEKHM1	ORPHA:210110
HP:0012647	Abnormal inflammatory response	25923	ATL3	OMIM:615632
HP:0012647	Abnormal inflammatory response	25923	ATL3	ORPHA:36386
HP:0012647	Abnormal inflammatory response	4803	NGF	OMIM:608654
HP:0012647	Abnormal inflammatory response	1786	DNMT1	OMIM:614116
HP:0012647	Abnormal inflammatory response	51062	ATL1	OMIM:613708
HP:0012647	Abnormal inflammatory response	51062	ATL1	ORPHA:36386
HP:0012647	Abnormal inflammatory response	10558	SPTLC1	OMIM:162400
HP:0012647	Abnormal inflammatory response	10558	SPTLC1	ORPHA:36386
HP:0012647	Abnormal inflammatory response	28982	FLVCR1	ORPHA:88628
HP:0012647	Abnormal inflammatory response	54463	RETREG1	OMIM:613115
HP:0012647	Abnormal inflammatory response	2019	EN1	OMIM:619218
HP:0012647	Abnormal inflammatory response	205327	C2orf69	OMIM:619423
HP:0012647	Abnormal inflammatory response	9517	SPTLC2	OMIM:613640
HP:0012647	Abnormal inflammatory response	9517	SPTLC2	ORPHA:36386
HP:0012647	Abnormal inflammatory response	203859	ANO5	OMIM:166260
HP:0012647	Abnormal inflammatory response	6773	STAT2	OMIM:618886
HP:0012647	Abnormal inflammatory response	8913	CACNA1G	ORPHA:458803
HP:0012647	Abnormal inflammatory response	3107	HLA-C	OMIM:177900
HP:0012647	Abnormal inflammatory response	2625	GATA3	ORPHA:2237
HP:0012647	Abnormal inflammatory response	130340	AP1S3	OMIM:616106
HP:0012647	Abnormal inflammatory response	64919	BCL11B	OMIM:617237
HP:0012647	Abnormal inflammatory response	26525	IL36RN	OMIM:614204
HP:0012647	Abnormal inflammatory response	359948	IRF2BP2	OMIM:617765
HP:0012647	Abnormal inflammatory response	55315	SLC29A3	ORPHA:168569
HP:0012647	Abnormal inflammatory response	1308	COL17A1	ORPHA:79406
HP:0012647	Abnormal inflammatory response	26873	OPLAH	OMIM:260005
HP:0012647	Abnormal inflammatory response	5979	RET	OMIM:142623
HP:0012647	Abnormal inflammatory response	3875	KRT18	OMIM:215600
HP:0012647	Abnormal inflammatory response	4068	SH2D1A	OMIM:308240
HP:0012647	Abnormal inflammatory response	4358	MPV17	OMIM:256810
HP:0012647	Abnormal inflammatory response	4507	MTAP	OMIM:112250
HP:0012647	Abnormal inflammatory response	1130	LYST	ORPHA:167
HP:0012647	Abnormal inflammatory response	1130	LYST	OMIM:214500
HP:0012647	Abnormal inflammatory response	3561	IL2RG	ORPHA:276
HP:0012647	Abnormal inflammatory response	10804	GJB6	ORPHA:477
HP:0012647	Abnormal inflammatory response	2706	GJB2	ORPHA:477
HP:0012647	Abnormal inflammatory response	2706	GJB2	OMIM:148210
HP:0012647	Abnormal inflammatory response	1536	CYBB	OMIM:306400
HP:0012647	Abnormal inflammatory response	4615	MYD88	ORPHA:183713
HP:0012647	Abnormal inflammatory response	1075	CTSC	OMIM:245010
HP:0012647	Abnormal inflammatory response	4688	NCF2	OMIM:233710
HP:0012647	Abnormal inflammatory response	653361	NCF1	OMIM:233700
HP:0012647	Abnormal inflammatory response	1535	CYBA	OMIM:233690
HP:0012647	Abnormal inflammatory response	7535	ZAP70	ORPHA:911
HP:0012647	Abnormal inflammatory response	7390	UROS	ORPHA:79277
HP:0012647	Abnormal inflammatory response	2623	GATA1	ORPHA:79277
HP:0012647	Abnormal inflammatory response	2050	EPHB4	ORPHA:90186
HP:0012647	Abnormal inflammatory response	6868	ADAM17	ORPHA:294023
HP:0012647	Abnormal inflammatory response	1956	EGFR	ORPHA:294023
HP:0012647	Abnormal inflammatory response	7389	UROD	ORPHA:95159
HP:0012647	Abnormal inflammatory response	81704	DOCK8	ORPHA:217390
HP:0012647	Abnormal inflammatory response	3459	IFNGR1	OMIM:209950
HP:0012647	Abnormal inflammatory response	3459	IFNGR1	OMIM:615978
HP:0012647	Abnormal inflammatory response	3594	IL12RB1	ORPHA:319552
HP:0012647	Abnormal inflammatory response	63929	XPNPEP3	OMIM:613159
HP:0012647	Abnormal inflammatory response	2710	GK	OMIM:307030
HP:0012647	Abnormal inflammatory response	4921	DDR2	OMIM:271665
HP:0012647	Abnormal inflammatory response	3763	KCNJ6	ORPHA:435628
HP:0012647	Abnormal inflammatory response	3763	KCNJ6	OMIM:614098
HP:0012647	Abnormal inflammatory response	5351	PLOD1	OMIM:225400
HP:0012647	Abnormal inflammatory response	5351	PLOD1	ORPHA:1900
HP:0012647	Abnormal inflammatory response	6477	SIAH1	OMIM:619314
HP:0012647	Abnormal inflammatory response	8425	LTBP4	OMIM:613177
HP:0012647	Abnormal inflammatory response	11133	KPTN	OMIM:615637
HP:0012647	Abnormal inflammatory response	11133	KPTN	ORPHA:397612
HP:0012647	Abnormal inflammatory response	81857	MED25	OMIM:616449
HP:0012647	Abnormal inflammatory response	81857	MED25	ORPHA:464738
HP:0012647	Abnormal inflammatory response	755	CFAP410	OMIM:602271
HP:0012647	Abnormal inflammatory response	126792	B3GALT6	OMIM:609465
HP:0012647	Abnormal inflammatory response	1302	COL11A2	OMIM:215150
HP:0012647	Abnormal inflammatory response	10157	AASS	ORPHA:2203
HP:0012647	Abnormal inflammatory response	3417	IDH1	ORPHA:99646
HP:0012647	Abnormal inflammatory response	6904	TBCD	ORPHA:496641
HP:0012647	Abnormal inflammatory response	3952	LEP	OMIM:614962
HP:0012647	Abnormal inflammatory response	8792	TNFRSF11A	OMIM:612301
HP:0012647	Abnormal inflammatory response	7080	NKX2-1	ORPHA:209905
HP:0012647	Abnormal inflammatory response	79087	ALG12	OMIM:607143
HP:0012647	Abnormal inflammatory response	79087	ALG12	ORPHA:79324
HP:0012647	Abnormal inflammatory response	54681	P4HTM	OMIM:618493
HP:0012647	Abnormal inflammatory response	23594	ORC6	OMIM:613803
HP:0012647	Abnormal inflammatory response	26040	SETBP1	ORPHA:798
HP:0012647	Abnormal inflammatory response	2328	FMO3	OMIM:602079
HP:0012647	Abnormal inflammatory response	2588	GALNS	OMIM:253000
HP:0012647	Abnormal inflammatory response	718	C3	OMIM:613779
HP:0012647	Abnormal inflammatory response	4796	TONSL	ORPHA:93357
HP:0012647	Abnormal inflammatory response	51341	ZBTB7A	OMIM:619769
HP:0012647	Abnormal inflammatory response	27040	LAT	OMIM:617514
HP:0012647	Abnormal inflammatory response	284119	CAVIN1	OMIM:613327
HP:0012647	Abnormal inflammatory response	871	SERPINH1	OMIM:613848
HP:0012647	Abnormal inflammatory response	55294	FBXW7	OMIM:620012
HP:0012647	Abnormal inflammatory response	4233	MET	OMIM:114550
HP:0012647	Abnormal inflammatory response	8312	AXIN1	OMIM:114550
HP:0012647	Abnormal inflammatory response	5157	PDGFRL	OMIM:114550
HP:0012647	Abnormal inflammatory response	3482	IGF2R	OMIM:114550
HP:0012647	Abnormal inflammatory response	324	APC	OMIM:114550
HP:0012647	Abnormal inflammatory response	1499	CTNNB1	OMIM:114550
HP:0012647	Abnormal inflammatory response	404672	GTF2H5	ORPHA:33364
HP:0012647	Abnormal inflammatory response	833	CARS1	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2068	ERCC2	ORPHA:33364
HP:0012647	Abnormal inflammatory response	7737	RNF113A	ORPHA:33364
HP:0012647	Abnormal inflammatory response	136647	MPLKIP	ORPHA:33364
HP:0012647	Abnormal inflammatory response	6897	TARS1	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2071	ERCC3	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2961	GTF2E2	ORPHA:33364
HP:0012647	Abnormal inflammatory response	23592	LEMD3	ORPHA:166119
HP:0012647	Abnormal inflammatory response	5184	PEPD	OMIM:170100
HP:0012647	Abnormal inflammatory response	5184	PEPD	ORPHA:742
HP:0012647	Abnormal inflammatory response	727	C5	OMIM:609536
HP:0012647	Abnormal inflammatory response	8626	TP63	ORPHA:69085
HP:0012647	Abnormal inflammatory response	1314	COPA	OMIM:616414
HP:0012647	Abnormal inflammatory response	64170	CARD9	OMIM:212050
HP:0012647	Abnormal inflammatory response	919	CD247	ORPHA:169160
HP:0012647	Abnormal inflammatory response	6772	STAT1	OMIM:614162
HP:0012647	Abnormal inflammatory response	326	AIRE	OMIM:240300
HP:0012647	Abnormal inflammatory response	6097	RORC	OMIM:616622
HP:0012647	Abnormal inflammatory response	9948	WDR1	OMIM:150550
HP:0012647	Abnormal inflammatory response	3559	IL2RA	OMIM:606367
HP:0012647	Abnormal inflammatory response	1777	DNASE2	OMIM:619858
HP:0012647	Abnormal inflammatory response	92579	G6PC3	OMIM:612541
HP:0012647	Abnormal inflammatory response	22806	IKZF3	OMIM:619437
HP:0012647	Abnormal inflammatory response	3588	IL10RB	OMIM:612567
HP:0012647	Abnormal inflammatory response	3110	MNX1	OMIM:176450
HP:0012647	Abnormal inflammatory response	5371	PML	ORPHA:520
HP:0012647	Abnormal inflammatory response	5914	RARA	ORPHA:520
HP:0012647	Abnormal inflammatory response	81608	FIP1L1	ORPHA:520
HP:0012647	Abnormal inflammatory response	64859	NABP1	ORPHA:520
HP:0012647	Abnormal inflammatory response	4926	NUMA1	ORPHA:520
HP:0012647	Abnormal inflammatory response	7704	ZBTB16	ORPHA:520
HP:0012647	Abnormal inflammatory response	79718	TBL1XR1	ORPHA:520
HP:0012647	Abnormal inflammatory response	3702	ITK	OMIM:613011
HP:0012647	Abnormal inflammatory response	84876	ORAI1	OMIM:612782
HP:0012647	Abnormal inflammatory response	399	RHOH	OMIM:618307
HP:0012647	Abnormal inflammatory response	10379	IRF9	OMIM:618648
HP:0012647	Abnormal inflammatory response	25974	MMACHC	ORPHA:79282
HP:0012647	Abnormal inflammatory response	8942	KYNU	ORPHA:79155
HP:0012647	Abnormal inflammatory response	1053	CEBPE	OMIM:260570
HP:0012647	Abnormal inflammatory response	54941	RNF125	OMIM:616260
HP:0012647	Abnormal inflammatory response	54453	RIN2	OMIM:613075
HP:0012647	Abnormal inflammatory response	148022	TICAM1	OMIM:614850
HP:0012647	Abnormal inflammatory response	5591	PRKDC	OMIM:615966
HP:0012647	Abnormal inflammatory response	1289	COL5A1	OMIM:130000
HP:0012647	Abnormal inflammatory response	85452	CFAP74	OMIM:620197
HP:0012647	Abnormal inflammatory response	1290	COL5A2	OMIM:130010
HP:0012647	Abnormal inflammatory response	4194	MDM4	OMIM:618849
HP:0012647	Abnormal inflammatory response	6688	SPI1	OMIM:619707
HP:0012647	Abnormal inflammatory response	22845	DOLK	OMIM:610768
HP:0012647	Abnormal inflammatory response	2683	B4GALT1	ORPHA:79332
HP:0012647	Abnormal inflammatory response	4072	EPCAM	ORPHA:92050
HP:0012647	Abnormal inflammatory response	105371045	PERCC1	ORPHA:92050
HP:0012647	Abnormal inflammatory response	22861	NLRP1	OMIM:617388
HP:0012647	Abnormal inflammatory response	5339	PLEC	OMIM:226670
HP:0012647	Abnormal inflammatory response	1439	CSF2RB	ORPHA:264675
HP:0012647	Abnormal inflammatory response	1438	CSF2RA	ORPHA:264675
HP:0012647	Abnormal inflammatory response	9342	SNAP29	OMIM:609528
HP:0012647	Abnormal inflammatory response	55791	LRIF1	OMIM:619477
HP:0012647	Abnormal inflammatory response	55037	PTCD3	OMIM:619057
HP:0012647	Abnormal inflammatory response	2260	FGFR1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2260	FGFR1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	10735	STAG2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	10735	STAG2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93925
HP:0012647	Abnormal inflammatory response	8243	SMC1A	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93925
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:220386
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93926
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93924
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93925
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93925
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93926
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93924
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:220386
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93926
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93924
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93925
HP:0012647	Abnormal inflammatory response	27125	AFF4	OMIM:616368
HP:0012647	Abnormal inflammatory response	27125	AFF4	ORPHA:444077
HP:0012647	Abnormal inflammatory response	6597	SMARCA4	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6598	SMARCB1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6659	SOX4	ORPHA:1465
HP:0012647	Abnormal inflammatory response	8289	ARID1A	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6602	SMARCD1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	57492	ARID1B	ORPHA:1465
HP:0012647	Abnormal inflammatory response	196528	ARID2	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6605	SMARCE1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6664	SOX11	ORPHA:1465
HP:0012647	Abnormal inflammatory response	8398	PLA2G6	ORPHA:35069
HP:0012647	Abnormal inflammatory response	5048	PAFAH1B1	ORPHA:95232
HP:0012647	Abnormal inflammatory response	526	ATP6V1B2	ORPHA:79500
HP:0012647	Abnormal inflammatory response	57465	TBC1D24	ORPHA:79500
HP:0012647	Abnormal inflammatory response	9896	FIG4	OMIM:216340
HP:0012647	Abnormal inflammatory response	1678	TIMM8A	ORPHA:52368
HP:0012647	Abnormal inflammatory response	283446	MYO1H	OMIM:619482
HP:0012647	Abnormal inflammatory response	57190	SELENON	ORPHA:2020
HP:0012647	Abnormal inflammatory response	58	ACTA1	ORPHA:2020
HP:0012647	Abnormal inflammatory response	4633	MYL2	ORPHA:2020
HP:0012647	Abnormal inflammatory response	3679	ITGA7	ORPHA:2020
HP:0012647	Abnormal inflammatory response	7169	TPM2	ORPHA:2020
HP:0012647	Abnormal inflammatory response	9200	HACD1	ORPHA:2020
HP:0012647	Abnormal inflammatory response	7170	TPM3	ORPHA:2020
HP:0012647	Abnormal inflammatory response	51776	MAP3K20	ORPHA:2020
HP:0012647	Abnormal inflammatory response	80025	PANK2	ORPHA:216866
HP:0012647	Abnormal inflammatory response	92935	MARS2	OMIM:616430
HP:0012647	Abnormal inflammatory response	4700	NDUFA6	OMIM:618253
HP:0012647	Abnormal inflammatory response	6392	SDHD	OMIM:619167
HP:0012647	Abnormal inflammatory response	10342	TFG	ORPHA:90117
HP:0012647	Abnormal inflammatory response	23007	PLCH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2720	GLB1	ORPHA:79255
HP:0012647	Abnormal inflammatory response	4001	LMNB1	ORPHA:99027
HP:0012647	Abnormal inflammatory response	5813	PURA	ORPHA:314655
HP:0012647	Abnormal inflammatory response	1288	COL4A6	ORPHA:1018
HP:0012647	Abnormal inflammatory response	1287	COL4A5	ORPHA:1018
HP:0012647	Abnormal inflammatory response	538	ATP7A	ORPHA:198
HP:0012647	Abnormal inflammatory response	540	ATP7B	ORPHA:905
HP:0012647	Abnormal inflammatory response	5265	SERPINA1	ORPHA:60
HP:0012647	Abnormal inflammatory response	9420	CYP7B1	OMIM:613812
HP:0012647	Abnormal inflammatory response	9780	PIEZO1	OMIM:194380
HP:0012647	Abnormal inflammatory response	23534	TNPO3	ORPHA:186
HP:0012647	Abnormal inflammatory response	6689	SPIB	ORPHA:186
HP:0012647	Abnormal inflammatory response	5450	POU2AF1	ORPHA:186
HP:0012647	Abnormal inflammatory response	9966	TNFSF15	ORPHA:186
HP:0012647	Abnormal inflammatory response	79258	MMEL1	ORPHA:186
HP:0012647	Abnormal inflammatory response	3663	IRF5	ORPHA:186
HP:0012647	Abnormal inflammatory response	169792	GLIS3	OMIM:610199
HP:0012647	Abnormal inflammatory response	23729	SHPK	ORPHA:440713
HP:0012647	Abnormal inflammatory response	10166	SLC25A15	ORPHA:415
HP:0012647	Abnormal inflammatory response	9095	TBX19	ORPHA:199296
HP:0012647	Abnormal inflammatory response	1581	CYP7A1	ORPHA:209902
HP:0012647	Abnormal inflammatory response	330	BIRC3	ORPHA:52417
HP:0012647	Abnormal inflammatory response	3492	IGH	ORPHA:52417
HP:0012647	Abnormal inflammatory response	56244	BTNL2	OMIM:612387
HP:0012647	Abnormal inflammatory response	56244	BTNL2	ORPHA:797
HP:0012647	Abnormal inflammatory response	4598	MVK	OMIM:610377
HP:0012647	Abnormal inflammatory response	9968	MED12	OMIM:301068
HP:0012647	Abnormal inflammatory response	51726	DNAJB11	ORPHA:730
HP:0012647	Abnormal inflammatory response	23193	GANAB	ORPHA:730
HP:0012647	Abnormal inflammatory response	5310	PKD1	ORPHA:730
HP:0012647	Abnormal inflammatory response	5311	PKD2	ORPHA:730
HP:0012647	Abnormal inflammatory response	29880	ALG5	ORPHA:730
HP:0012647	Abnormal inflammatory response	9742	IFT140	ORPHA:730
HP:0012647	Abnormal inflammatory response	79796	ALG9	ORPHA:730
HP:0012647	Abnormal inflammatory response	80114	BICC1	ORPHA:730
HP:0012647	Abnormal inflammatory response	284252	KCTD1	OMIM:181270
HP:0012647	Abnormal inflammatory response	284252	KCTD1	ORPHA:2036
HP:0012647	Abnormal inflammatory response	7498	XDH	OMIM:278300
HP:0012647	Abnormal inflammatory response	10516	FBLN5	ORPHA:90348
HP:0012647	Abnormal inflammatory response	10516	FBLN5	ORPHA:90349
HP:0012647	Abnormal inflammatory response	5832	ALDH18A1	ORPHA:90348
HP:0012647	Abnormal inflammatory response	4052	LTBP1	ORPHA:90349
HP:0012647	Abnormal inflammatory response	30008	EFEMP2	ORPHA:90349
HP:0012647	Abnormal inflammatory response	3209	HOXA13	OMIM:140000
HP:0012647	Abnormal inflammatory response	54796	BNC2	ORPHA:93110
HP:0012647	Abnormal inflammatory response	51284	TLR7	OMIM:301080
HP:0012647	Abnormal inflammatory response	56984	PSMG2	OMIM:619183
HP:0012647	Abnormal inflammatory response	84868	HAVCR2	OMIM:618398
HP:0012647	Abnormal inflammatory response	84868	HAVCR2	ORPHA:86884
HP:0012647	Abnormal inflammatory response	10535	RNASEH2A	ORPHA:51
HP:0012647	Abnormal inflammatory response	84153	RNASEH2C	ORPHA:51
HP:0012647	Abnormal inflammatory response	25939	SAMHD1	ORPHA:51
HP:0012647	Abnormal inflammatory response	79621	RNASEH2B	ORPHA:51
HP:0012647	Abnormal inflammatory response	103	ADAR	ORPHA:51
HP:0012647	Abnormal inflammatory response	134353	LSM11	ORPHA:51
HP:0012647	Abnormal inflammatory response	55243	KIRREL1	OMIM:619201
HP:0012647	Abnormal inflammatory response	8270	LAGE3	OMIM:301006
HP:0012647	Abnormal inflammatory response	25959	KANK2	OMIM:617783
HP:0012647	Abnormal inflammatory response	6399	TRAPPC2	ORPHA:93284
HP:0012647	Abnormal inflammatory response	3872	KRT17	OMIM:167210
HP:0012647	Abnormal inflammatory response	7156	TOP3A	OMIM:618097
HP:0012647	Abnormal inflammatory response	8558	CDK10	OMIM:617694
HP:0012647	Abnormal inflammatory response	57539	WDR35	OMIM:613610
HP:0012647	Abnormal inflammatory response	617	BCS1L	OMIM:124000
HP:0012647	Abnormal inflammatory response	199221	DZIP1L	ORPHA:731
HP:0012647	Abnormal inflammatory response	5314	PKHD1	ORPHA:731
HP:0012647	Abnormal inflammatory response	5314	PKHD1	ORPHA:53035
HP:0012647	Abnormal inflammatory response	8318	CDC45	OMIM:617063
HP:0012647	Abnormal inflammatory response	9076	CLDN1	OMIM:607626
HP:0012647	Abnormal inflammatory response	5994	RFXAP	ORPHA:572
HP:0012647	Abnormal inflammatory response	4261	CIITA	ORPHA:572
HP:0012647	Abnormal inflammatory response	5993	RFX5	ORPHA:572
HP:0012647	Abnormal inflammatory response	8625	RFXANK	ORPHA:572
HP:0012647	Abnormal inflammatory response	5966	REL	OMIM:619652
HP:0012647	Abnormal inflammatory response	51473	DCDC2	OMIM:617394
HP:0012647	Abnormal inflammatory response	959	CD40LG	OMIM:308230
HP:0012647	Abnormal inflammatory response	113220	KIF12	OMIM:619662
HP:0012647	Abnormal inflammatory response	3939	LDHA	ORPHA:284426
HP:0012647	Abnormal inflammatory response	57152	SLURP1	ORPHA:87503
HP:0012647	Abnormal inflammatory response	54795	TRPM4	OMIM:618531
HP:0012647	Abnormal inflammatory response	219972	MPEG1	OMIM:619223
HP:0012647	Abnormal inflammatory response	6774	STAT3	OMIM:147060
HP:0012647	Abnormal inflammatory response	5238	PGM3	ORPHA:443811
HP:0012647	Abnormal inflammatory response	90268	OTULIN	OMIM:619986
HP:0012647	Abnormal inflammatory response	84342	COG8	OMIM:611182
HP:0012647	Abnormal inflammatory response	8547	FCN3	OMIM:613860
HP:0012647	Abnormal inflammatory response	2271	FH	OMIM:606812
HP:0012647	Abnormal inflammatory response	37	ACADVL	OMIM:201475
HP:0012647	Abnormal inflammatory response	84992	PIGY	OMIM:616809
HP:0012647	Abnormal inflammatory response	50619	DEF6	OMIM:619573
HP:0012647	Abnormal inflammatory response	64135	IFIH1	OMIM:619773
HP:0012647	Abnormal inflammatory response	22900	CARD8	OMIM:619079
HP:0012647	Abnormal inflammatory response	7317	UBA1	OMIM:301054
HP:0012647	Abnormal inflammatory response	5950	RBP4	OMIM:615147
HP:0012647	Abnormal inflammatory response	23385	NCSTN	OMIM:142690
HP:0012647	Abnormal inflammatory response	56983	POGLUT1	ORPHA:79145
HP:0012647	Abnormal inflammatory response	23509	POFUT1	ORPHA:79145
HP:0012647	Abnormal inflammatory response	171023	ASXL1	ORPHA:98850
HP:0012647	Abnormal inflammatory response	54790	TET2	ORPHA:98850
HP:0012647	Abnormal inflammatory response	867	CBL	ORPHA:98850
HP:0012647	Abnormal inflammatory response	861	RUNX1	ORPHA:98850
HP:0012647	Abnormal inflammatory response	6427	SRSF2	ORPHA:98850
HP:0012647	Abnormal inflammatory response	57169	ZNFX1	OMIM:619644
HP:0012647	Abnormal inflammatory response	2038	EPB42	ORPHA:822
HP:0012647	Abnormal inflammatory response	6521	SLC4A1	ORPHA:822
HP:0012647	Abnormal inflammatory response	6710	SPTB	ORPHA:822
HP:0012647	Abnormal inflammatory response	6708	SPTA1	ORPHA:822
HP:0012647	Abnormal inflammatory response	286	ANK1	ORPHA:822
HP:0012647	Abnormal inflammatory response	857	CAV1	OMIM:606721
HP:0012647	Abnormal inflammatory response	4558	MT-TF	ORPHA:550
HP:0012647	Abnormal inflammatory response	4572	MT-TQ	ORPHA:550
HP:0012647	Abnormal inflammatory response	4512	MT-CO1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4513	MT-CO2	ORPHA:550
HP:0012647	Abnormal inflammatory response	4514	MT-CO3	ORPHA:550
HP:0012647	Abnormal inflammatory response	4578	MT-TW	ORPHA:550
HP:0012647	Abnormal inflammatory response	4540	MT-ND5	ORPHA:550
HP:0012647	Abnormal inflammatory response	4541	MT-ND6	ORPHA:550
HP:0012647	Abnormal inflammatory response	4535	MT-ND1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4538	MT-ND4	ORPHA:550
HP:0012647	Abnormal inflammatory response	4567	MT-TL1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4574	MT-TS1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4575	MT-TS2	ORPHA:550
HP:0012647	Abnormal inflammatory response	4564	MT-TH	ORPHA:550
HP:0012647	Abnormal inflammatory response	2642	GCGR	OMIM:619290
HP:0012647	Abnormal inflammatory response	1357	CPA1	ORPHA:676
HP:0012647	Abnormal inflammatory response	10747	MASP2	OMIM:613791
HP:0012647	Abnormal inflammatory response	27178	IL37	OMIM:619398
HP:0012647	Abnormal inflammatory response	29775	CARD10	OMIM:619632
HP:0012647	Abnormal inflammatory response	60468	BACH2	OMIM:618394
HP:0012647	Abnormal inflammatory response	55765	INAVA	OMIM:618077
HP:0012647	Abnormal inflammatory response	96459	FNIP1	OMIM:619705
HP:0012647	Abnormal inflammatory response	2984	GUCY2C	OMIM:614616
HP:0012647	Abnormal inflammatory response	3105	HLA-A	ORPHA:179
HP:0012647	Abnormal inflammatory response	224	ALDH3A2	ORPHA:816
HP:0012647	Abnormal inflammatory response	3593	IL12B	ORPHA:3287
HP:0012647	Abnormal inflammatory response	6945	MLX	ORPHA:3287
HP:0012647	Abnormal inflammatory response	57105	CYSLTR2	ORPHA:39044
HP:0012647	Abnormal inflammatory response	2776	GNAQ	ORPHA:39044
HP:0012647	Abnormal inflammatory response	23451	SF3B1	ORPHA:39044
HP:0012647	Abnormal inflammatory response	3655	ITGA6	ORPHA:79403
HP:0012647	Abnormal inflammatory response	3691	ITGB4	ORPHA:79403
HP:0012647	Abnormal inflammatory response	825	CAPN3	OMIM:253600
HP:0012647	Abnormal inflammatory response	3181	HNRNPA2B1	OMIM:615422
HP:0012647	Abnormal inflammatory response	23175	LPIN1	ORPHA:99845
HP:0012647	Abnormal inflammatory response	3908	LAMA2	ORPHA:258
HP:0012647	Abnormal inflammatory response	4221	MEN1	OMIM:131100
HP:0012647	Abnormal inflammatory response	60684	TRAPPC11	OMIM:615356
HP:0012647	Abnormal inflammatory response	3376	IARS1	ORPHA:541423
HP:0012647	Abnormal inflammatory response	81031	SLC2A10	ORPHA:3342
HP:0012647	Abnormal inflammatory response	9719	ADAMTSL2	ORPHA:1901
HP:0012647	Abnormal inflammatory response	9509	ADAMTS2	ORPHA:1901
HP:0012647	Abnormal inflammatory response	2887	GRB10	ORPHA:96182
HP:0012647	Abnormal inflammatory response	2743	GLRB	ORPHA:3197
HP:0012647	Abnormal inflammatory response	2741	GLRA1	ORPHA:3197
HP:0012647	Abnormal inflammatory response	10243	GPHN	ORPHA:3197
HP:0012647	Abnormal inflammatory response	84896	ATAD1	ORPHA:3197
HP:0012647	Abnormal inflammatory response	9152	SLC6A5	ORPHA:3197
HP:0012647	Abnormal inflammatory response	6812	STXBP1	ORPHA:495818
HP:0012647	Abnormal inflammatory response	5723	PSPH	ORPHA:79350
HP:0012647	Abnormal inflammatory response	26227	PHGDH	ORPHA:79351
HP:0012647	Abnormal inflammatory response	57623	ZFAT	OMIM:608175
HP:0012647	Abnormal inflammatory response	7038	TG	OMIM:608175
HP:0012647	Abnormal inflammatory response	207	AKT1	OMIM:615109
HP:0012647	Abnormal inflammatory response	7084	TK2	ORPHA:254886
HP:0012647	Abnormal inflammatory response	9692	PRORP	OMIM:619737
HP:0012647	Abnormal inflammatory response	7319	UBE2A	ORPHA:163956
HP:0012647	Abnormal inflammatory response	55851	PSENEN	OMIM:613736
HP:0012647	Abnormal inflammatory response	5663	PSEN1	OMIM:613737
HP:0012647	Abnormal inflammatory response	1508	CTSB	ORPHA:50943
HP:0012647	Abnormal inflammatory response	23600	AMACR	ORPHA:79095
HP:0012647	Abnormal inflammatory response	23600	AMACR	OMIM:214950
HP:0012647	Abnormal inflammatory response	80270	HSD3B7	OMIM:607765
HP:0012647	Abnormal inflammatory response	63894	VIPAS39	OMIM:613404
HP:0012647	Abnormal inflammatory response	26276	VPS33B	OMIM:208085
HP:0012647	Abnormal inflammatory response	6718	AKR1D1	ORPHA:79303
HP:0012647	Abnormal inflammatory response	3043	HBB	ORPHA:231226
HP:0012647	Abnormal inflammatory response	4088	SMAD3	OMIM:613795
HP:0012647	Abnormal inflammatory response	7046	TGFBR1	OMIM:609192
HP:0012647	Abnormal inflammatory response	7048	TGFBR2	OMIM:610168
HP:0012647	Abnormal inflammatory response	7042	TGFB2	OMIM:614816
HP:0012647	Abnormal inflammatory response	7043	TGFB3	OMIM:615582
HP:0012649	Increased inflammatory response	3081	HGD	ORPHA:56
HP:0012649	Increased inflammatory response	7374	UNG	OMIM:608106
HP:0012649	Increased inflammatory response	7840	ALMS1	ORPHA:64
HP:0012649	Increased inflammatory response	9056	SLC7A7	ORPHA:470
HP:0012649	Increased inflammatory response	355	FAS	ORPHA:3261
HP:0012649	Increased inflammatory response	356	FASLG	ORPHA:3261
HP:0012649	Increased inflammatory response	5580	PRKCD	ORPHA:3261
HP:0012649	Increased inflammatory response	843	CASP10	ORPHA:3261
HP:0012649	Increased inflammatory response	10125	RASGRP1	ORPHA:3261
HP:0012649	Increased inflammatory response	720	C4A	OMIM:614380
HP:0012649	Increased inflammatory response	8651	SOCS1	OMIM:619375
HP:0012649	Increased inflammatory response	975	CD81	OMIM:613496
HP:0012649	Increased inflammatory response	3426	CFI	OMIM:610984
HP:0012649	Increased inflammatory response	1285	COL4A3	OMIM:104200
HP:0012649	Increased inflammatory response	50943	FOXP3	OMIM:304790
HP:0012649	Increased inflammatory response	81494	CFHR5	OMIM:614809
HP:0012649	Increased inflammatory response	4010	LMX1B	OMIM:161200
HP:0012649	Increased inflammatory response	4312	MMP1	ORPHA:79408
HP:0012649	Increased inflammatory response	1294	COL7A1	ORPHA:79408
HP:0012649	Increased inflammatory response	4311	MME	ORPHA:69063
HP:0012649	Increased inflammatory response	57728	WDR19	OMIM:614376
HP:0012649	Increased inflammatory response	81603	TRIM8	OMIM:619428
HP:0012649	Increased inflammatory response	7369	UMOD	OMIM:162000
HP:0012649	Increased inflammatory response	4613	MYCN	ORPHA:391641
HP:0012649	Increased inflammatory response	1286	COL4A4	OMIM:203780
HP:0012649	Increased inflammatory response	3162	HMOX1	OMIM:614034
HP:0012649	Increased inflammatory response	4627	MYH9	ORPHA:182050
HP:0012649	Increased inflammatory response	977	CD151	OMIM:609057
HP:0012649	Increased inflammatory response	847	CAT	ORPHA:926
HP:0012649	Increased inflammatory response	7852	CXCR4	ORPHA:51636
HP:0012649	Increased inflammatory response	1789	DNMT3B	OMIM:242860
HP:0012649	Increased inflammatory response	2947	GSTM3	ORPHA:586
HP:0012649	Increased inflammatory response	2729	GCLC	ORPHA:586
HP:0012649	Increased inflammatory response	1084	CEACAM3	ORPHA:586
HP:0012649	Increased inflammatory response	6556	SLC11A1	ORPHA:586
HP:0012649	Increased inflammatory response	51164	DCTN4	ORPHA:586
HP:0012649	Increased inflammatory response	3783	KCNN4	ORPHA:586
HP:0012649	Increased inflammatory response	1909	EDNRA	ORPHA:586
HP:0012649	Increased inflammatory response	115019	SLC26A9	ORPHA:586
HP:0012649	Increased inflammatory response	3077	HFE	ORPHA:586
HP:0012649	Increased inflammatory response	11254	SLC6A14	ORPHA:586
HP:0012649	Increased inflammatory response	22802	CLCA4	ORPHA:586
HP:0012649	Increased inflammatory response	4680	CEACAM6	ORPHA:586
HP:0012649	Increased inflammatory response	472	ATM	OMIM:208900
HP:0012649	Increased inflammatory response	3394	IRF8	OMIM:226990
HP:0012649	Increased inflammatory response	4763	NF1	ORPHA:363700
HP:0012649	Increased inflammatory response	6711	SPTBN1	OMIM:619475
HP:0012649	Increased inflammatory response	1387	CREBBP	ORPHA:353277
HP:0012649	Increased inflammatory response	1387	CREBBP	ORPHA:353281
HP:0012649	Increased inflammatory response	4860	PNP	OMIM:613179
HP:0012649	Increased inflammatory response	1186	CLCN7	ORPHA:667
HP:0012649	Increased inflammatory response	29887	SNX10	ORPHA:667
HP:0012649	Increased inflammatory response	8600	TNFSF11	ORPHA:667
HP:0012649	Increased inflammatory response	11011	TLK2	OMIM:618050
HP:0012649	Increased inflammatory response	4125	MAN2B1	ORPHA:309282
HP:0012649	Increased inflammatory response	2033	EP300	ORPHA:353284
HP:0012649	Increased inflammatory response	165918	RNF168	ORPHA:420741
HP:0012649	Increased inflammatory response	3590	IL11RA	OMIM:614188
HP:0012649	Increased inflammatory response	6804	STX1A	ORPHA:904
HP:0012649	Increased inflammatory response	7461	CLIP2	ORPHA:904
HP:0012649	Increased inflammatory response	84277	DNAJC30	ORPHA:904
HP:0012649	Increased inflammatory response	8468	FKBP6	ORPHA:904
HP:0012649	Increased inflammatory response	5982	RFC2	ORPHA:904
HP:0012649	Increased inflammatory response	2969	GTF2I	ORPHA:904
HP:0012649	Increased inflammatory response	3984	LIMK1	ORPHA:904
HP:0012649	Increased inflammatory response	9569	GTF2IRD1	ORPHA:904
HP:0012649	Increased inflammatory response	155382	VPS37D	ORPHA:904
HP:0012649	Increased inflammatory response	155368	METTL27	ORPHA:904
HP:0012649	Increased inflammatory response	114049	BUD23	ORPHA:904
HP:0012649	Increased inflammatory response	7458	EIF4H	ORPHA:904
HP:0012649	Increased inflammatory response	84163	GTF2IRD2	ORPHA:904
HP:0012649	Increased inflammatory response	9275	BCL7B	ORPHA:904
HP:0012649	Increased inflammatory response	26608	TBL2	ORPHA:904
HP:0012649	Increased inflammatory response	135886	TMEM270	ORPHA:904
HP:0012649	Increased inflammatory response	9031	BAZ1B	ORPHA:904
HP:0012649	Increased inflammatory response	6890	TAP1	OMIM:604571
HP:0012649	Increased inflammatory response	6891	TAP2	OMIM:604571
HP:0012649	Increased inflammatory response	6892	TAPBP	OMIM:604571
HP:0012649	Increased inflammatory response	2624	GATA2	ORPHA:3226
HP:0012649	Increased inflammatory response	64324	NSD1	ORPHA:821
HP:0012649	Increased inflammatory response	10297	APC2	ORPHA:821
HP:0012649	Increased inflammatory response	29123	ANKRD11	ORPHA:261250
HP:0012649	Increased inflammatory response	25790	CFAP45	OMIM:619608
HP:0012649	Increased inflammatory response	2314	FLII	ORPHA:819
HP:0012649	Increased inflammatory response	23096	IQSEC2	ORPHA:819
HP:0012649	Increased inflammatory response	10743	RAI1	ORPHA:819
HP:0012649	Increased inflammatory response	10522	DEAF1	ORPHA:819
HP:0012649	Increased inflammatory response	23483	TGDS	ORPHA:1388
HP:0012649	Increased inflammatory response	64359	NXN	ORPHA:1507
HP:0012649	Increased inflammatory response	4920	ROR2	ORPHA:1507
HP:0012649	Increased inflammatory response	8604	SLC25A12	OMIM:612949
HP:0012649	Increased inflammatory response	10815	CPLX1	ORPHA:280
HP:0012649	Increased inflammatory response	54872	PIGG	ORPHA:280
HP:0012649	Increased inflammatory response	7469	NELFA	ORPHA:280
HP:0012649	Increased inflammatory response	1487	CTBP1	ORPHA:280
HP:0012649	Increased inflammatory response	3954	LETM1	ORPHA:280
HP:0012649	Increased inflammatory response	7468	NSD2	ORPHA:280
HP:0012649	Increased inflammatory response	7161	TP73	OMIM:619466
HP:0012649	Increased inflammatory response	860	RUNX2	ORPHA:1452
HP:0012649	Increased inflammatory response	4790	NFKB1	ORPHA:1572
HP:0012649	Increased inflammatory response	8742	TNFSF12	ORPHA:1572
HP:0012649	Increased inflammatory response	931	MS4A1	ORPHA:1572
HP:0012649	Increased inflammatory response	100	ADA	ORPHA:277
HP:0012649	Increased inflammatory response	4791	NFKB2	ORPHA:293978
HP:0012649	Increased inflammatory response	4791	NFKB2	OMIM:615577
HP:0012649	Increased inflammatory response	3071	NCKAP1L	OMIM:618982
HP:0012649	Increased inflammatory response	8367	H4C5	OMIM:619950
HP:0012649	Increased inflammatory response	5880	RAC2	OMIM:618986
HP:0012649	Increased inflammatory response	64682	ANAPC1	OMIM:618625
HP:0012649	Increased inflammatory response	7174	TPP2	ORPHA:444463
HP:0012649	Increased inflammatory response	7174	TPP2	OMIM:619220
HP:0012649	Increased inflammatory response	9839	ZEB2	OMIM:235730
HP:0012649	Increased inflammatory response	9839	ZEB2	ORPHA:261552
HP:0012649	Increased inflammatory response	9839	ZEB2	ORPHA:261537
HP:0012649	Increased inflammatory response	80232	WDR26	ORPHA:513456
HP:0012649	Increased inflammatory response	80232	WDR26	OMIM:617616
HP:0012649	Increased inflammatory response	89765	RSPH1	OMIM:615481
HP:0012649	Increased inflammatory response	89765	RSPH1	ORPHA:244
HP:0012649	Increased inflammatory response	161582	DNAAF4	OMIM:615482
HP:0012649	Increased inflammatory response	161582	DNAAF4	ORPHA:244
HP:0012649	Increased inflammatory response	9578	CDC42BPB	OMIM:619841
HP:0012649	Increased inflammatory response	4487	MSX1	ORPHA:199306
HP:0012649	Increased inflammatory response	5818	NECTIN1	ORPHA:199306
HP:0012649	Increased inflammatory response	1739	DLG1	ORPHA:199306
HP:0012649	Increased inflammatory response	652	BMP4	ORPHA:199306
HP:0012649	Increased inflammatory response	999	CDH1	ORPHA:199306
HP:0012649	Increased inflammatory response	5156	PDGFRA	ORPHA:199306
HP:0012649	Increased inflammatory response	3664	IRF6	ORPHA:199306
HP:0012649	Increased inflammatory response	9411	ARHGAP29	ORPHA:199306
HP:0012649	Increased inflammatory response	1748	DLX4	ORPHA:199306
HP:0012649	Increased inflammatory response	51111	KMT5B	OMIM:617788
HP:0012649	Increased inflammatory response	146845	CFAP52	OMIM:619607
HP:0012649	Increased inflammatory response	973	CD79A	OMIM:613501
HP:0012649	Increased inflammatory response	3543	IGLL1	OMIM:613500
HP:0012649	Increased inflammatory response	6595	SMARCA2	ORPHA:2728
HP:0012649	Increased inflammatory response	144568	A2ML1	OMIM:166760
HP:0012649	Increased inflammatory response	29760	BLNK	OMIM:613502
HP:0012649	Increased inflammatory response	79158	GNPTAB	OMIM:252500
HP:0012649	Increased inflammatory response	8382	NME5	OMIM:620032
HP:0012649	Increased inflammatory response	1301	COL11A1	OMIM:154780
HP:0012649	Increased inflammatory response	54	ACP5	OMIM:607944
HP:0012649	Increased inflammatory response	56992	KIF15	ORPHA:261323
HP:0012649	Increased inflammatory response	23495	TNFRSF13B	OMIM:240500
HP:0012649	Increased inflammatory response	115650	TNFRSF13C	OMIM:240500
HP:0012649	Increased inflammatory response	1380	CR2	OMIM:240500
HP:0012649	Increased inflammatory response	29851	ICOS	OMIM:240500
HP:0012649	Increased inflammatory response	29851	ICOS	OMIM:607594
HP:0012649	Increased inflammatory response	930	CD19	OMIM:240500
HP:0012649	Increased inflammatory response	930	CD19	OMIM:613493
HP:0012649	Increased inflammatory response	123872	DNAAF1	OMIM:613193
HP:0012649	Increased inflammatory response	123872	DNAAF1	ORPHA:244
HP:0012649	Increased inflammatory response	284058	KANSL1	ORPHA:363958
HP:0012649	Increased inflammatory response	284058	KANSL1	ORPHA:363965
HP:0012649	Increased inflammatory response	3572	IL6ST	OMIM:618523
HP:0012649	Increased inflammatory response	8546	AP3B1	OMIM:608233
HP:0012649	Increased inflammatory response	1717	DHCR7	OMIM:270400
HP:0012649	Increased inflammatory response	28755	TRAC	OMIM:615387
HP:0012649	Increased inflammatory response	6885	MAP3K7	OMIM:157800
HP:0012649	Increased inflammatory response	2783	GNB2	OMIM:619503
HP:0012649	Increased inflammatory response	3425	IDUA	OMIM:607014
HP:0012649	Increased inflammatory response	2214	FCGR3A	OMIM:615707
HP:0012649	Increased inflammatory response	30011	SH3KBP1	OMIM:300310
HP:0012649	Increased inflammatory response	2261	FGFR3	OMIM:616482
HP:0012649	Increased inflammatory response	2261	FGFR3	OMIM:100800
HP:0012649	Increased inflammatory response	2261	FGFR3	OMIM:602849
HP:0012649	Increased inflammatory response	83861	RSPH3	OMIM:616481
HP:0012649	Increased inflammatory response	83861	RSPH3	ORPHA:244
HP:0012649	Increased inflammatory response	56006	SMG9	OMIM:619995
HP:0012649	Increased inflammatory response	8260	NAA10	OMIM:309800
HP:0012649	Increased inflammatory response	8260	NAA10	OMIM:300855
HP:0012649	Increased inflammatory response	54880	BCOR	OMIM:309800
HP:0012649	Increased inflammatory response	54914	FOCAD	OMIM:619991
HP:0012649	Increased inflammatory response	6135	RPL11	OMIM:612562
HP:0012649	Increased inflammatory response	64446	DNAI2	OMIM:612444
HP:0012649	Increased inflammatory response	64446	DNAI2	ORPHA:244
HP:0012649	Increased inflammatory response	8364	H4C3	OMIM:619758
HP:0012649	Increased inflammatory response	54499	TMCO1	OMIM:213980
HP:0012649	Increased inflammatory response	55343	SLC35C1	OMIM:266265
HP:0012649	Increased inflammatory response	55343	SLC35C1	ORPHA:99843
HP:0012649	Increased inflammatory response	3507	IGHM	OMIM:601495
HP:0012649	Increased inflammatory response	8314	BAP1	OMIM:619762
HP:0012649	Increased inflammatory response	27086	FOXP1	ORPHA:391372
HP:0012649	Increased inflammatory response	5594	MAPK1	OMIM:619087
HP:0012649	Increased inflammatory response	5971	RELB	OMIM:617585
HP:0012649	Increased inflammatory response	4256	MGP	ORPHA:85202
HP:0012649	Increased inflammatory response	4256	MGP	OMIM:245150
HP:0012649	Increased inflammatory response	974	CD79B	OMIM:612692
HP:0012649	Increased inflammatory response	113179	ADAT3	OMIM:615286
HP:0012649	Increased inflammatory response	113179	ADAT3	ORPHA:363528
HP:0012649	Increased inflammatory response	54919	DNAAF5	OMIM:614874
HP:0012649	Increased inflammatory response	54919	DNAAF5	ORPHA:244
HP:0012649	Increased inflammatory response	917	CD3G	OMIM:615607
HP:0012649	Increased inflammatory response	51085	MLXIPL	OMIM:194050
HP:0012649	Increased inflammatory response	2006	ELN	OMIM:194050
HP:0012649	Increased inflammatory response	11128	POLR3A	ORPHA:3455
HP:0012649	Increased inflammatory response	3373	HYAL1	OMIM:601492
HP:0012649	Increased inflammatory response	2535	FZD2	OMIM:164745
HP:0012649	Increased inflammatory response	7030	TFE3	OMIM:301066
HP:0012649	Increased inflammatory response	92749	DRC1	OMIM:615294
HP:0012649	Increased inflammatory response	92749	DRC1	ORPHA:244
HP:0012649	Increased inflammatory response	3978	LIG1	OMIM:619774
HP:0012649	Increased inflammatory response	3423	IDS	OMIM:309900
HP:0012649	Increased inflammatory response	6603	SMARCD2	OMIM:617475
HP:0012649	Increased inflammatory response	84522	JAGN1	OMIM:616022
HP:0012649	Increased inflammatory response	6929	TCF3	OMIM:616941
HP:0012649	Increased inflammatory response	7994	KAT6A	OMIM:616268
HP:0012649	Increased inflammatory response	3551	IKBKB	OMIM:618204
HP:0012649	Increased inflammatory response	916	CD3E	OMIM:615615
HP:0012649	Increased inflammatory response	3930	LBR	OMIM:169400
HP:0012649	Increased inflammatory response	246176	GAS2L2	OMIM:618449
HP:0012649	Increased inflammatory response	246176	GAS2L2	ORPHA:244
HP:0012649	Increased inflammatory response	915	CD3D	OMIM:615617
HP:0012649	Increased inflammatory response	3514	IGKC	ORPHA:183675
HP:0012649	Increased inflammatory response	3501	IGHG2	ORPHA:183675
HP:0012649	Increased inflammatory response	51311	TLR8	OMIM:301078
HP:0012649	Increased inflammatory response	25981	DNAH1	ORPHA:244
HP:0012649	Increased inflammatory response	115948	ODAD3	ORPHA:244
HP:0012649	Increased inflammatory response	115948	ODAD3	OMIM:616037
HP:0012649	Increased inflammatory response	54768	HYDIN	ORPHA:244
HP:0012649	Increased inflammatory response	54768	HYDIN	OMIM:608647
HP:0012649	Increased inflammatory response	352909	DNAAF3	ORPHA:244
HP:0012649	Increased inflammatory response	27148	STK36	ORPHA:244
HP:0012649	Increased inflammatory response	27148	STK36	OMIM:619436
HP:0012649	Increased inflammatory response	51314	NME8	ORPHA:244
HP:0012649	Increased inflammatory response	54970	TTC12	ORPHA:244
HP:0012649	Increased inflammatory response	152110	NEK10	ORPHA:244
HP:0012649	Increased inflammatory response	8481	OFD1	ORPHA:244
HP:0012649	Increased inflammatory response	2302	FOXJ1	ORPHA:244
HP:0012649	Increased inflammatory response	221421	RSPH9	ORPHA:244
HP:0012649	Increased inflammatory response	85478	CCDC65	ORPHA:244
HP:0012649	Increased inflammatory response	85478	CCDC65	OMIM:615504
HP:0012649	Increased inflammatory response	55036	CCDC40	ORPHA:244
HP:0012649	Increased inflammatory response	55036	CCDC40	OMIM:613808
HP:0012649	Increased inflammatory response	51364	ZMYND10	ORPHA:244
HP:0012649	Increased inflammatory response	51364	ZMYND10	OMIM:615444
HP:0012649	Increased inflammatory response	6674	SPAG1	ORPHA:244
HP:0012649	Increased inflammatory response	6674	SPAG1	OMIM:615505
HP:0012649	Increased inflammatory response	83544	DNAL1	ORPHA:244
HP:0012649	Increased inflammatory response	83538	ODAD4	ORPHA:244
HP:0012649	Increased inflammatory response	200373	CFAP221	ORPHA:244
HP:0012649	Increased inflammatory response	374407	DNAJB13	ORPHA:244
HP:0012649	Increased inflammatory response	55172	DNAAF2	ORPHA:244
HP:0012649	Increased inflammatory response	2622	GAS8	ORPHA:244
HP:0012649	Increased inflammatory response	2622	GAS8	OMIM:616726
HP:0012649	Increased inflammatory response	23639	DNAAF11	ORPHA:244
HP:0012649	Increased inflammatory response	23639	DNAAF11	OMIM:614935
HP:0012649	Increased inflammatory response	27019	DNAI1	ORPHA:244
HP:0012649	Increased inflammatory response	345895	RSPH4A	ORPHA:244
HP:0012649	Increased inflammatory response	6103	RPGR	ORPHA:244
HP:0012649	Increased inflammatory response	388389	CCDC103	ORPHA:244
HP:0012649	Increased inflammatory response	388389	CCDC103	OMIM:614679
HP:0012649	Increased inflammatory response	93233	ODAD1	ORPHA:244
HP:0012649	Increased inflammatory response	93233	ODAD1	OMIM:615067
HP:0012649	Increased inflammatory response	55130	ODAD2	ORPHA:244
HP:0012649	Increased inflammatory response	55130	ODAD2	OMIM:615451
HP:0012649	Increased inflammatory response	1767	DNAH5	ORPHA:244
HP:0012649	Increased inflammatory response	1767	DNAH5	OMIM:608644
HP:0012649	Increased inflammatory response	345643	MCIDAS	ORPHA:244
HP:0012649	Increased inflammatory response	56683	CFAP298	ORPHA:244
HP:0012649	Increased inflammatory response	56683	CFAP298	OMIM:615500
HP:0012649	Increased inflammatory response	79925	SPEF2	ORPHA:244
HP:0012649	Increased inflammatory response	10309	CCNO	ORPHA:244
HP:0012649	Increased inflammatory response	115399	LRRC56	ORPHA:244
HP:0012649	Increased inflammatory response	115399	LRRC56	OMIM:618254
HP:0012649	Increased inflammatory response	139212	DNAAF6	ORPHA:244
HP:0012649	Increased inflammatory response	85016	CFAP300	ORPHA:244
HP:0012649	Increased inflammatory response	339829	CCDC39	ORPHA:244
HP:0012649	Increased inflammatory response	8701	DNAH11	ORPHA:244
HP:0012649	Increased inflammatory response	8701	DNAH11	OMIM:611884
HP:0012649	Increased inflammatory response	1770	DNAH9	ORPHA:244
HP:0012649	Increased inflammatory response	2742	GLRA2	OMIM:301076
HP:0012649	Increased inflammatory response	55023	PHIP	ORPHA:589905
HP:0012649	Increased inflammatory response	29072	SETD2	OMIM:616831
HP:0012649	Increased inflammatory response	2316	FLNA	OMIM:309350
HP:0012649	Increased inflammatory response	1642	DDB1	OMIM:619426
HP:0012649	Increased inflammatory response	388015	RTL1	ORPHA:254531
HP:0012649	Increased inflammatory response	388015	RTL1	ORPHA:96184
HP:0012649	Increased inflammatory response	8788	DLK1	ORPHA:254531
HP:0012649	Increased inflammatory response	8788	DLK1	ORPHA:96184
HP:0012649	Increased inflammatory response	55384	MEG3	ORPHA:254531
HP:0012649	Increased inflammatory response	55384	MEG3	ORPHA:96184
HP:0012649	Increased inflammatory response	4683	NBN	OMIM:251260
HP:0012649	Increased inflammatory response	10806	SDCCAG8	OMIM:615993
HP:0012649	Increased inflammatory response	100151683	RNU4ATAC	ORPHA:353298
HP:0012649	Increased inflammatory response	100151683	RNU4ATAC	OMIM:616651
HP:0012649	Increased inflammatory response	9094	UNC119	OMIM:615518
HP:0012649	Increased inflammatory response	79650	USB1	OMIM:604173
HP:0012649	Increased inflammatory response	7314	UBB	ORPHA:99772
HP:0012649	Increased inflammatory response	57822	GRHL3	ORPHA:99772
HP:0012649	Increased inflammatory response	5575	PRKAR1B	OMIM:619680
HP:0012649	Increased inflammatory response	10847	SRCAP	OMIM:136140
HP:0012649	Increased inflammatory response	3718	JAK3	OMIM:600802
HP:0012649	Increased inflammatory response	11151	CORO1A	OMIM:615401
HP:0012649	Increased inflammatory response	4297	KMT2A	OMIM:605130
HP:0012649	Increased inflammatory response	57551	TAOK1	OMIM:619575
HP:0012649	Increased inflammatory response	84061	MAGT1	OMIM:300853
HP:0012649	Increased inflammatory response	2332	FMR1	ORPHA:449291
HP:0012649	Increased inflammatory response	6045	RNF2	OMIM:619460
HP:0012649	Increased inflammatory response	1280	COL2A1	OMIM:156550
HP:0012649	Increased inflammatory response	5718	PSMD12	ORPHA:529962
HP:0012649	Increased inflammatory response	2186	BPTF	ORPHA:529962
HP:0012649	Increased inflammatory response	1822	ATN1	OMIM:618494
HP:0012649	Increased inflammatory response	7403	KDM6A	OMIM:300867
HP:0012649	Increased inflammatory response	7403	KDM6A	OMIM:147920
HP:0012649	Increased inflammatory response	3560	IL2RB	OMIM:618495
HP:0012649	Increased inflammatory response	57003	CCDC47	OMIM:618268
HP:0012649	Increased inflammatory response	5977	DPF2	OMIM:618027
HP:0012649	Increased inflammatory response	55329	MNS1	OMIM:618948
HP:0012649	Increased inflammatory response	920	CD4	OMIM:619238
HP:0012649	Increased inflammatory response	3570	IL6R	OMIM:618944
HP:0012649	Increased inflammatory response	3575	IL7R	OMIM:608971
HP:0012649	Increased inflammatory response	23112	TNRC6B	OMIM:619243
HP:0012649	Increased inflammatory response	50615	IL21R	OMIM:615207
HP:0012649	Increased inflammatory response	5294	PIK3CG	OMIM:619802
HP:0012649	Increased inflammatory response	2799	GNS	OMIM:252940
HP:0012649	Increased inflammatory response	10551	AGR2	OMIM:620233
HP:0012649	Increased inflammatory response	84905	ZNF341	OMIM:618282
HP:0012649	Increased inflammatory response	5879	RAC1	OMIM:617751
HP:0012649	Increased inflammatory response	5879	RAC1	ORPHA:500159
HP:0012649	Increased inflammatory response	2990	GUSB	OMIM:253220
HP:0012649	Increased inflammatory response	5236	PGM1	OMIM:614921
HP:0012649	Increased inflammatory response	23765	IL17RA	OMIM:613953
HP:0012649	Increased inflammatory response	6850	SYK	OMIM:619381
HP:0012649	Increased inflammatory response	341208	HEPHL1	OMIM:261990
HP:0012649	Increased inflammatory response	721	C4B	OMIM:614379
HP:0012649	Increased inflammatory response	1794	DOCK2	OMIM:616433
HP:0012649	Increased inflammatory response	6736	SRY	ORPHA:1772
HP:0012649	Increased inflammatory response	5130	PCYT1A	OMIM:608940
HP:0012649	Increased inflammatory response	5696	PSMB8	OMIM:256040
HP:0012649	Increased inflammatory response	8085	KMT2D	OMIM:147920
HP:0012649	Increased inflammatory response	5080	PAX6	ORPHA:2334
HP:0012649	Increased inflammatory response	5080	PAX6	OMIM:148190
HP:0012649	Increased inflammatory response	6720	SREBF1	OMIM:619016
HP:0012649	Increased inflammatory response	6935	ZEB1	OMIM:613270
HP:0012649	Increased inflammatory response	8218	CLTCL1	ORPHA:453510
HP:0012649	Increased inflammatory response	23476	BRD4	ORPHA:199
HP:0012649	Increased inflammatory response	9126	SMC3	ORPHA:199
HP:0012649	Increased inflammatory response	25836	NIPBL	ORPHA:199
HP:0012649	Increased inflammatory response	55869	HDAC8	ORPHA:199
HP:0012649	Increased inflammatory response	5885	RAD21	ORPHA:199
HP:0012649	Increased inflammatory response	5980	REV3L	ORPHA:570
HP:0012649	Increased inflammatory response	23129	PLXND1	ORPHA:570
HP:0012649	Increased inflammatory response	6768	ST14	OMIM:602400
HP:0012649	Increased inflammatory response	9496	TBX4	ORPHA:261279
HP:0012649	Increased inflammatory response	80169	CTC1	ORPHA:1775
HP:0012649	Increased inflammatory response	26277	TINF2	ORPHA:1775
HP:0012649	Increased inflammatory response	55651	NHP2	ORPHA:1775
HP:0012649	Increased inflammatory response	55135	WRAP53	ORPHA:1775
HP:0012649	Increased inflammatory response	4869	NPM1	ORPHA:1775
HP:0012649	Increased inflammatory response	7012	TERC	ORPHA:1775
HP:0012649	Increased inflammatory response	55505	NOP10	ORPHA:1775
HP:0012649	Increased inflammatory response	5073	PARN	ORPHA:1775
HP:0012649	Increased inflammatory response	7015	TERT	ORPHA:1775
HP:0012649	Increased inflammatory response	7298	TYMS	ORPHA:1775
HP:0012649	Increased inflammatory response	5333	PLCD1	ORPHA:2387
HP:0012649	Increased inflammatory response	6307	MSMO1	OMIM:616834
HP:0012649	Increased inflammatory response	114548	NLRP3	OMIM:617772
HP:0012649	Increased inflammatory response	114548	NLRP3	OMIM:191900
HP:0012649	Increased inflammatory response	114548	NLRP3	ORPHA:575
HP:0012649	Increased inflammatory response	114548	NLRP3	ORPHA:47045
HP:0012649	Increased inflammatory response	114548	NLRP3	OMIM:120100
HP:0012649	Increased inflammatory response	1643	DDB2	OMIM:278740
HP:0012649	Increased inflammatory response	1736	DKC1	OMIM:305000
HP:0012649	Increased inflammatory response	1776	DNASE1L3	ORPHA:36412
HP:0012649	Increased inflammatory response	8675	STX16	ORPHA:94089
HP:0012649	Increased inflammatory response	7507	XPA	OMIM:278700
HP:0012649	Increased inflammatory response	1161	ERCC8	ORPHA:90321
HP:0012649	Increased inflammatory response	1161	ERCC8	ORPHA:90322
HP:0012649	Increased inflammatory response	2072	ERCC4	ORPHA:90321
HP:0012649	Increased inflammatory response	2074	ERCC6	ORPHA:90321
HP:0012649	Increased inflammatory response	2074	ERCC6	ORPHA:90322
HP:0012649	Increased inflammatory response	2074	ERCC6	OMIM:278800
HP:0012649	Increased inflammatory response	2067	ERCC1	ORPHA:90322
HP:0012649	Increased inflammatory response	55630	SLC39A4	ORPHA:37
HP:0012649	Increased inflammatory response	8676	STX11	OMIM:603552
HP:0012649	Increased inflammatory response	51360	MBTPS2	OMIM:308800
HP:0012649	Increased inflammatory response	51360	MBTPS2	ORPHA:2273
HP:0012649	Increased inflammatory response	5896	RAG1	OMIM:601457
HP:0012649	Increased inflammatory response	5897	RAG2	OMIM:601457
HP:0012649	Increased inflammatory response	162	AP1B1	OMIM:242150
HP:0012649	Increased inflammatory response	5075	PAX1	OMIM:615560
HP:0012649	Increased inflammatory response	5429	POLH	OMIM:278750
HP:0012649	Increased inflammatory response	5340	PLG	OMIM:217090
HP:0012649	Increased inflammatory response	65082	VPS33A	ORPHA:505248
HP:0012649	Increased inflammatory response	5692	PSMB4	OMIM:617591
HP:0012649	Increased inflammatory response	5698	PSMB9	OMIM:617591
HP:0012649	Increased inflammatory response	7037	TFRC	OMIM:616740
HP:0012649	Increased inflammatory response	2077	ERF	ORPHA:207
HP:0012649	Increased inflammatory response	2303	FOXC2	ORPHA:33001
HP:0012649	Increased inflammatory response	2303	FOXC2	OMIM:153400
HP:0012649	Increased inflammatory response	7508	XPC	OMIM:278720
HP:0012649	Increased inflammatory response	54809	SAMD9	OMIM:610455
HP:0012649	Increased inflammatory response	3321	IGSF3	OMIM:149700
HP:0012649	Increased inflammatory response	5295	PIK3R1	ORPHA:33110
HP:0012649	Increased inflammatory response	56262	LRRC8A	ORPHA:33110
HP:0012649	Increased inflammatory response	220202	ATOH7	OMIM:221900
HP:0012649	Increased inflammatory response	726	CAPN5	OMIM:193235
HP:0012649	Increased inflammatory response	939	CD27	OMIM:615122
HP:0012649	Increased inflammatory response	1281	COL3A1	OMIM:130050
HP:0012649	Increased inflammatory response	1281	COL3A1	ORPHA:286
HP:0012649	Increased inflammatory response	3689	ITGB2	OMIM:116920
HP:0012649	Increased inflammatory response	715	C1R	ORPHA:75392
HP:0012649	Increased inflammatory response	715	C1R	OMIM:130080
HP:0012649	Increased inflammatory response	2248	FGF3	ORPHA:2791
HP:0012649	Increased inflammatory response	92344	GORAB	OMIM:231070
HP:0012649	Increased inflammatory response	10312	TCIRG1	ORPHA:486
HP:0012649	Increased inflammatory response	2672	GFI1	ORPHA:486
HP:0012649	Increased inflammatory response	81570	CLPB	ORPHA:486
HP:0012649	Increased inflammatory response	375056	MIA3	OMIM:619269
HP:0012649	Increased inflammatory response	4853	NOTCH2	ORPHA:955
HP:0012649	Increased inflammatory response	165	AEBP1	ORPHA:536532
HP:0012649	Increased inflammatory response	4952	OCRL	ORPHA:534
HP:0012649	Increased inflammatory response	54345	SOX18	OMIM:137940
HP:0012649	Increased inflammatory response	84823	LMNB2	OMIM:608709
HP:0012649	Increased inflammatory response	712	C1QA	OMIM:613652
HP:0012649	Increased inflammatory response	8526	DGKE	OMIM:615008
HP:0012649	Increased inflammatory response	64421	DCLRE1C	ORPHA:275
HP:0012649	Increased inflammatory response	6909	TBX2	OMIM:618223
HP:0012649	Increased inflammatory response	10068	IL18BP	OMIM:618549
HP:0012649	Increased inflammatory response	5297	PI4KA	ORPHA:436252
HP:0012649	Increased inflammatory response	57217	TTC7A	ORPHA:436252
HP:0012649	Increased inflammatory response	5336	PLCG2	OMIM:614468
HP:0012649	Increased inflammatory response	5728	PTEN	ORPHA:109
HP:0012649	Increased inflammatory response	5428	POLG	ORPHA:94125
HP:0012649	Increased inflammatory response	1493	CTLA4	OMIM:140300
HP:0012649	Increased inflammatory response	27022	FOXD3	OMIM:607836
HP:0012649	Increased inflammatory response	83737	ITCH	OMIM:613385
HP:0012649	Increased inflammatory response	716	C1S	OMIM:613783
HP:0012649	Increased inflammatory response	51816	ADA2	OMIM:615688
HP:0012649	Increased inflammatory response	10483	SEC23B	OMIM:616858
HP:0012649	Increased inflammatory response	1027	CDKN1B	OMIM:610755
HP:0012649	Increased inflammatory response	1188	CLCNKB	ORPHA:358
HP:0012649	Increased inflammatory response	6559	SLC12A3	ORPHA:358
HP:0012649	Increased inflammatory response	8036	SHOC2	OMIM:607721
HP:0012649	Increased inflammatory response	2235	FECH	OMIM:177000
HP:0012649	Increased inflammatory response	2235	FECH	ORPHA:79278
HP:0012649	Increased inflammatory response	26960	NBEA	OMIM:619157
HP:0012649	Increased inflammatory response	6016	RIT1	OMIM:615355
HP:0012649	Increased inflammatory response	6777	STAT5B	OMIM:618985
HP:0012649	Increased inflammatory response	9759	HDAC4	ORPHA:1001
HP:0012649	Increased inflammatory response	9759	HDAC4	OMIM:600430
HP:0012649	Increased inflammatory response	114803	MYSM1	ORPHA:508542
HP:0012649	Increased inflammatory response	114803	MYSM1	OMIM:618116
HP:0012649	Increased inflammatory response	4522	MTHFD1	OMIM:617780
HP:0012649	Increased inflammatory response	3021	H3-3B	OMIM:619721
HP:0012649	Increased inflammatory response	841	CASP8	OMIM:607271
HP:0012649	Increased inflammatory response	79644	SRD5A3	OMIM:612379
HP:0012649	Increased inflammatory response	5053	PAH	OMIM:261600
HP:0012649	Increased inflammatory response	5053	PAH	ORPHA:79254
HP:0012649	Increased inflammatory response	9837	GINS1	OMIM:617827
HP:0012649	Increased inflammatory response	16	AARS1	OMIM:619691
HP:0012649	Increased inflammatory response	1896	EDA	OMIM:305100
HP:0012649	Increased inflammatory response	7780	SLC30A2	OMIM:608118
HP:0012649	Increased inflammatory response	7941	PLA2G7	OMIM:147050
HP:0012649	Increased inflammatory response	3566	IL4R	OMIM:147050
HP:0012649	Increased inflammatory response	2206	MS4A2	OMIM:147050
HP:0012649	Increased inflammatory response	6601	SMARCC2	OMIM:618362
HP:0012649	Increased inflammatory response	54496	PRMT7	OMIM:617157
HP:0012649	Increased inflammatory response	54496	PRMT7	ORPHA:464288
HP:0012649	Increased inflammatory response	816	CAMK2B	OMIM:617799
HP:0012649	Increased inflammatory response	6821	SUOX	OMIM:272300
HP:0012649	Increased inflammatory response	4478	MSN	OMIM:300988
HP:0012649	Increased inflammatory response	26053	AUTS2	ORPHA:352490
HP:0012649	Increased inflammatory response	51428	DDX41	OMIM:616871
HP:0012649	Increased inflammatory response	93627	TBCK	ORPHA:488632
HP:0012649	Increased inflammatory response	1474	CST6	OMIM:618535
HP:0012649	Increased inflammatory response	25942	SIN3A	OMIM:613406
HP:0012649	Increased inflammatory response	3981	LIG4	ORPHA:235
HP:0012649	Increased inflammatory response	54888	NSUN2	ORPHA:235
HP:0012649	Increased inflammatory response	54888	NSUN2	OMIM:611091
HP:0012649	Increased inflammatory response	10043	TOM1	ORPHA:391487
HP:0012649	Increased inflammatory response	10043	TOM1	OMIM:619510
HP:0012649	Increased inflammatory response	126695	KDF1	OMIM:617337
HP:0012649	Increased inflammatory response	126695	KDF1	ORPHA:1810
HP:0012649	Increased inflammatory response	25914	RTTN	ORPHA:468631
HP:0012649	Increased inflammatory response	55719	SLF2	OMIM:620184
HP:0012649	Increased inflammatory response	79092	CARD14	ORPHA:2897
HP:0012649	Increased inflammatory response	283209	PGM2L1	OMIM:620191
HP:0012649	Increased inflammatory response	6872	TAF1	OMIM:300966
HP:0012649	Increased inflammatory response	23387	SIK3	OMIM:618162
HP:0012649	Increased inflammatory response	2678	GGT1	OMIM:231950
HP:0012649	Increased inflammatory response	203190	LGI3	OMIM:620007
HP:0012649	Increased inflammatory response	9526	MPDU1	ORPHA:79323
HP:0012649	Increased inflammatory response	9333	TGM5	ORPHA:263534
HP:0012649	Increased inflammatory response	1475	CSTA	ORPHA:263534
HP:0012649	Increased inflammatory response	55181	SMG8	OMIM:619268
HP:0012649	Increased inflammatory response	56160	NSMCE3	OMIM:617241
HP:0012649	Increased inflammatory response	5426	POLE	OMIM:618336
HP:0012649	Increased inflammatory response	7189	TRAF6	ORPHA:1810
HP:0012649	Increased inflammatory response	128178	EDARADD	ORPHA:1810
HP:0012649	Increased inflammatory response	10913	EDAR	ORPHA:1810
HP:0012649	Increased inflammatory response	2312	FLG	OMIM:146700
HP:0012649	Increased inflammatory response	6696	SPP1	ORPHA:93552
HP:0012649	Increased inflammatory response	3654	IRAK1	ORPHA:93552
HP:0012649	Increased inflammatory response	5551	PRF1	ORPHA:540
HP:0012649	Increased inflammatory response	5551	PRF1	OMIM:603553
HP:0012649	Increased inflammatory response	201294	UNC13D	ORPHA:540
HP:0012649	Increased inflammatory response	6813	STXBP2	ORPHA:540
HP:0012649	Increased inflammatory response	58484	NLRC4	OMIM:616050
HP:0012649	Increased inflammatory response	55788	LMBRD1	OMIM:277380
HP:0012649	Increased inflammatory response	55788	LMBRD1	ORPHA:79284
HP:0012649	Increased inflammatory response	3141	HLCS	OMIM:253270
HP:0012649	Increased inflammatory response	134218	DNAJC21	ORPHA:811
HP:0012649	Increased inflammatory response	79631	EFL1	ORPHA:811
HP:0012649	Increased inflammatory response	51119	SBDS	ORPHA:811
HP:0012649	Increased inflammatory response	6729	SRP54	ORPHA:811
HP:0012649	Increased inflammatory response	5699	PSMB10	OMIM:619175
HP:0012649	Increased inflammatory response	7128	TNFAIP3	OMIM:616744
HP:0012649	Increased inflammatory response	340061	STING1	OMIM:615934
HP:0012649	Increased inflammatory response	84818	IL17RC	ORPHA:1334
HP:0012649	Increased inflammatory response	64581	CLEC7A	ORPHA:1334
HP:0012649	Increased inflammatory response	112744	IL17F	ORPHA:1334
HP:0012649	Increased inflammatory response	7010	TEK	ORPHA:1059
HP:0012649	Increased inflammatory response	23152	CIC	OMIM:617600
HP:0012649	Increased inflammatory response	2697	GJA1	ORPHA:317
HP:0012649	Increased inflammatory response	2707	GJB3	ORPHA:317
HP:0012649	Increased inflammatory response	2531	KDSR	ORPHA:317
HP:0012649	Increased inflammatory response	127534	GJB4	ORPHA:317
HP:0012649	Increased inflammatory response	84701	COX4I2	OMIM:612714
HP:0012649	Increased inflammatory response	4069	LYZ	OMIM:105200
HP:0012649	Increased inflammatory response	2243	FGA	OMIM:105200
HP:0012649	Increased inflammatory response	335	APOA1	OMIM:105200
HP:0012649	Increased inflammatory response	567	B2M	OMIM:105200
HP:0012649	Increased inflammatory response	8517	IKBKG	ORPHA:464
HP:0012649	Increased inflammatory response	8647	ABCB11	ORPHA:69665
HP:0012649	Increased inflammatory response	9971	NR1H4	ORPHA:69665
HP:0012649	Increased inflammatory response	5788	PTPRC	OMIM:619924
HP:0012649	Increased inflammatory response	3557	IL1RN	OMIM:612852
HP:0012649	Increased inflammatory response	2073	ERCC5	ORPHA:220295
HP:0012649	Increased inflammatory response	91662	NLRP12	OMIM:611762
HP:0012649	Increased inflammatory response	55739	NAXD	OMIM:618321
HP:0012649	Increased inflammatory response	51371	POMP	OMIM:618048
HP:0012649	Increased inflammatory response	3937	LCP2	OMIM:619374
HP:0012649	Increased inflammatory response	6389	SDHA	ORPHA:44890
HP:0012649	Increased inflammatory response	6390	SDHB	ORPHA:44890
HP:0012649	Increased inflammatory response	6391	SDHC	ORPHA:44890
HP:0012649	Increased inflammatory response	3815	KIT	ORPHA:44890
HP:0012649	Increased inflammatory response	340024	SLC6A19	ORPHA:2116
HP:0012649	Increased inflammatory response	57393	CLTRN	ORPHA:2116
HP:0012649	Increased inflammatory response	3458	IFNG	OMIM:618963
HP:0012649	Increased inflammatory response	641	BLM	ORPHA:125
HP:0012649	Increased inflammatory response	10892	MALT1	OMIM:615468
HP:0012649	Increased inflammatory response	9181	ARHGEF2	OMIM:617523
HP:0012649	Increased inflammatory response	940	CD28	ORPHA:2584
HP:0012649	Increased inflammatory response	7133	TNFRSF1B	ORPHA:2584
HP:0012649	Increased inflammatory response	204	AK2	ORPHA:33355
HP:0012649	Increased inflammatory response	56916	SMARCAD1	ORPHA:1658
HP:0012649	Increased inflammatory response	11005	SPINK5	ORPHA:634
HP:0012649	Increased inflammatory response	3909	LAMA3	ORPHA:79404
HP:0012649	Increased inflammatory response	3918	LAMC2	ORPHA:79404
HP:0012649	Increased inflammatory response	3914	LAMB3	ORPHA:79404
HP:0012649	Increased inflammatory response	3587	IL10RA	OMIM:613148
HP:0012649	Increased inflammatory response	695	BTK	OMIM:300755
HP:0012649	Increased inflammatory response	695	BTK	OMIM:307200
HP:0012649	Increased inflammatory response	126410	CYP4F22	OMIM:604777
HP:0012649	Increased inflammatory response	126410	CYP4F22	ORPHA:313
HP:0012649	Increased inflammatory response	7051	TGM1	OMIM:242300
HP:0012649	Increased inflammatory response	7051	TGM1	ORPHA:100976
HP:0012649	Increased inflammatory response	7051	TGM1	ORPHA:79394
HP:0012649	Increased inflammatory response	7051	TGM1	ORPHA:313
HP:0012649	Increased inflammatory response	3858	KRT10	ORPHA:312
HP:0012649	Increased inflammatory response	3858	KRT10	OMIM:609165
HP:0012649	Increased inflammatory response	348938	NIPAL4	OMIM:612281
HP:0012649	Increased inflammatory response	348938	NIPAL4	ORPHA:79394
HP:0012649	Increased inflammatory response	348938	NIPAL4	ORPHA:313
HP:0012649	Increased inflammatory response	6023	RMRP	ORPHA:39041
HP:0012649	Increased inflammatory response	55636	CHD7	ORPHA:39041
HP:0012649	Increased inflammatory response	10999	SLC27A4	OMIM:608649
HP:0012649	Increased inflammatory response	2137	EXTL3	OMIM:617425
HP:0012649	Increased inflammatory response	6785	ELOVL4	OMIM:133190
HP:0012649	Increased inflammatory response	26154	ABCA12	ORPHA:457
HP:0012649	Increased inflammatory response	26154	ABCA12	ORPHA:79394
HP:0012649	Increased inflammatory response	26154	ABCA12	ORPHA:313
HP:0012649	Increased inflammatory response	57609	DIP2B	OMIM:136630
HP:0012649	Increased inflammatory response	4047	LSS	OMIM:618840
HP:0012649	Increased inflammatory response	10682	EBP	OMIM:302960
HP:0012649	Increased inflammatory response	10682	EBP	ORPHA:35173
HP:0012649	Increased inflammatory response	204219	CERS3	OMIM:615023
HP:0012649	Increased inflammatory response	204219	CERS3	ORPHA:79394
HP:0012649	Increased inflammatory response	285848	PNPLA1	OMIM:615024
HP:0012649	Increased inflammatory response	285848	PNPLA1	ORPHA:79394
HP:0012649	Increased inflammatory response	242	ALOX12B	ORPHA:79394
HP:0012649	Increased inflammatory response	242	ALOX12B	ORPHA:313
HP:0012649	Increased inflammatory response	59344	ALOXE3	ORPHA:79394
HP:0012649	Increased inflammatory response	59344	ALOXE3	ORPHA:313
HP:0012649	Increased inflammatory response	1828	DSG1	OMIM:615508
HP:0012649	Increased inflammatory response	151516	ASPRV1	ORPHA:313
HP:0012649	Increased inflammatory response	6820	SULT2B1	ORPHA:313
HP:0012649	Increased inflammatory response	643418	LIPN	ORPHA:313
HP:0012649	Increased inflammatory response	121214	SDR9C7	ORPHA:313
HP:0012649	Increased inflammatory response	2615	LRRC32	OMIM:619074
HP:0012649	Increased inflammatory response	388698	FLG2	OMIM:618084
HP:0012649	Increased inflammatory response	10526	IPO8	OMIM:619472
HP:0012649	Increased inflammatory response	91754	NEK9	OMIM:614262
HP:0012649	Increased inflammatory response	1041	CDSN	ORPHA:90368
HP:0012649	Increased inflammatory response	121391	KRT74	ORPHA:90368
HP:0012649	Increased inflammatory response	84433	CARD11	OMIM:617638
HP:0012649	Increased inflammatory response	22800	RRAS2	OMIM:618624
HP:0012649	Increased inflammatory response	8456	FOXN1	OMIM:618806
HP:0012649	Increased inflammatory response	10060	ABCC9	OMIM:619719
HP:0012649	Increased inflammatory response	6340	SCNN1G	ORPHA:171876
HP:0012649	Increased inflammatory response	6337	SCNN1A	ORPHA:171876
HP:0012649	Increased inflammatory response	6338	SCNN1B	ORPHA:171876
HP:0012649	Increased inflammatory response	23102	TBC1D2B	ORPHA:397973
HP:0012649	Increased inflammatory response	3848	KRT1	ORPHA:530838
HP:0012649	Increased inflammatory response	3313	HSPA9	OMIM:616854
HP:0012649	Increased inflammatory response	22880	MORC2	ORPHA:466768
HP:0012649	Increased inflammatory response	3716	JAK1	OMIM:618999
HP:0012649	Increased inflammatory response	5290	PIK3CA	ORPHA:276280
HP:0012649	Increased inflammatory response	6578	SLCO2A1	OMIM:614441
HP:0012649	Increased inflammatory response	6578	SLCO2A1	OMIM:167100
HP:0012649	Increased inflammatory response	6578	SLCO2A1	ORPHA:2796
HP:0012649	Increased inflammatory response	7922	SLC39A7	OMIM:619693
HP:0012649	Increased inflammatory response	686	BTD	OMIM:253260
HP:0012649	Increased inflammatory response	79755	ZNF750	OMIM:610227
HP:0012649	Increased inflammatory response	64087	MCCC2	OMIM:210210
HP:0012649	Increased inflammatory response	9939	RBM8A	OMIM:274000
HP:0012649	Increased inflammatory response	3248	HPGD	OMIM:259100
HP:0012649	Increased inflammatory response	3248	HPGD	ORPHA:2796
HP:0012649	Increased inflammatory response	1312	COMT	ORPHA:567
HP:0012649	Increased inflammatory response	221037	JMJD1C	ORPHA:567
HP:0012649	Increased inflammatory response	2812	GP1BB	ORPHA:567
HP:0012649	Increased inflammatory response	6239	RREB1	ORPHA:567
HP:0012649	Increased inflammatory response	6899	TBX1	ORPHA:567
HP:0012649	Increased inflammatory response	6899	TBX1	OMIM:188400
HP:0012649	Increased inflammatory response	7290	HIRA	ORPHA:567
HP:0012649	Increased inflammatory response	9632	SEC24C	ORPHA:567
HP:0012649	Increased inflammatory response	7353	UFD1	ORPHA:567
HP:0012649	Increased inflammatory response	421	ARVCF	ORPHA:567
HP:0012649	Increased inflammatory response	11322	TMC6	ORPHA:302
HP:0012649	Increased inflammatory response	3574	IL7	ORPHA:302
HP:0012649	Increased inflammatory response	147138	TMC8	ORPHA:302
HP:0012649	Increased inflammatory response	10519	CIB1	ORPHA:302
HP:0012649	Increased inflammatory response	5277	PIGA	OMIM:300868
HP:0012649	Increased inflammatory response	5277	PIGA	OMIM:301072
HP:0012649	Increased inflammatory response	146206	CARMIL2	OMIM:618131
HP:0012649	Increased inflammatory response	10758	TRAF3IP2	OMIM:615527
HP:0012649	Increased inflammatory response	7086	TKT	ORPHA:488618
HP:0012649	Increased inflammatory response	4210	MEFV	ORPHA:342
HP:0012649	Increased inflammatory response	4210	MEFV	OMIM:249100
HP:0012649	Increased inflammatory response	4210	MEFV	OMIM:134610
HP:0012649	Increased inflammatory response	3832	KIF11	ORPHA:2526
HP:0012649	Increased inflammatory response	9508	ADAMTS3	ORPHA:2136
HP:0012649	Increased inflammatory response	147372	CCBE1	ORPHA:2136
HP:0012649	Increased inflammatory response	147372	CCBE1	OMIM:235510
HP:0012649	Increased inflammatory response	79633	FAT4	ORPHA:2136
HP:0012649	Increased inflammatory response	7132	TNFRSF1A	OMIM:142680
HP:0012649	Increased inflammatory response	7132	TNFRSF1A	ORPHA:32960
HP:0012649	Increased inflammatory response	2324	FLT4	ORPHA:79452
HP:0012649	Increased inflammatory response	57165	GJC2	ORPHA:79452
HP:0012649	Increased inflammatory response	374393	FAM111B	OMIM:615704
HP:0012649	Increased inflammatory response	9563	H6PD	OMIM:604931
HP:0012649	Increased inflammatory response	9051	PSTPIP1	OMIM:604416
HP:0012649	Increased inflammatory response	9051	PSTPIP1	ORPHA:69126
HP:0012649	Increased inflammatory response	5566	PRKACA	OMIM:615830
HP:0012649	Increased inflammatory response	5566	PRKACA	ORPHA:189439
HP:0012649	Increased inflammatory response	8622	PDE8B	ORPHA:189439
HP:0012649	Increased inflammatory response	5573	PRKAR1A	ORPHA:189439
HP:0012649	Increased inflammatory response	50940	PDE11A	ORPHA:189439
HP:0012649	Increased inflammatory response	54361	WNT4	ORPHA:247768
HP:0012649	Increased inflammatory response	54361	WNT4	OMIM:158330
HP:0012649	Increased inflammatory response	285590	SH3PXD2B	ORPHA:137834
HP:0012649	Increased inflammatory response	285590	SH3PXD2B	OMIM:249420
HP:0012649	Increased inflammatory response	9060	PAPSS2	OMIM:612847
HP:0012649	Increased inflammatory response	2908	NR3C1	ORPHA:786
HP:0012649	Increased inflammatory response	2908	NR3C1	ORPHA:96253
HP:0012649	Increased inflammatory response	2099	ESR1	ORPHA:785
HP:0012649	Increased inflammatory response	2099	ESR1	OMIM:615363
HP:0012649	Increased inflammatory response	79798	ARMC5	ORPHA:189427
HP:0012649	Increased inflammatory response	2778	GNAS	ORPHA:189427
HP:0012649	Increased inflammatory response	1584	CYP11B1	ORPHA:90795
HP:0012649	Increased inflammatory response	1893	ECM1	ORPHA:530
HP:0012649	Increased inflammatory response	9663	LPIN2	ORPHA:77297
HP:0012649	Increased inflammatory response	84196	USP48	ORPHA:96253
HP:0012649	Increased inflammatory response	7157	TP53	ORPHA:96253
HP:0012649	Increased inflammatory response	9101	USP8	ORPHA:96253
HP:0012649	Increased inflammatory response	64072	CDH23	ORPHA:96253
HP:0012649	Increased inflammatory response	673	BRAF	ORPHA:96253
HP:0012649	Increased inflammatory response	546	ATRX	ORPHA:96253
HP:0012649	Increased inflammatory response	1201	CLN3	ORPHA:228346
HP:0012649	Increased inflammatory response	3973	LHCGR	ORPHA:3000
HP:0012649	Increased inflammatory response	83550	GPR101	ORPHA:963
HP:0012649	Increased inflammatory response	9049	AIP	ORPHA:963
HP:0012649	Increased inflammatory response	64131	XYLT1	ORPHA:370930
HP:0012649	Increased inflammatory response	4212	MEIS2	ORPHA:261190
HP:0012649	Increased inflammatory response	175	AGA	OMIM:208400
HP:0012649	Increased inflammatory response	5167	ENPP1	ORPHA:758
HP:0012649	Increased inflammatory response	368	ABCC6	ORPHA:758
HP:0012649	Increased inflammatory response	367	AR	ORPHA:99429
HP:0012649	Increased inflammatory response	2263	FGFR2	OMIM:101200
HP:0012649	Increased inflammatory response	149233	IL23R	ORPHA:117
HP:0012649	Increased inflammatory response	6775	STAT4	ORPHA:117
HP:0012649	Increased inflammatory response	3586	IL10	ORPHA:117
HP:0012649	Increased inflammatory response	1230	CCR1	ORPHA:117
HP:0012649	Increased inflammatory response	3592	IL12A	ORPHA:117
HP:0012649	Increased inflammatory response	101928376	IL12A-AS1	ORPHA:117
HP:0012649	Increased inflammatory response	7099	TLR4	ORPHA:117
HP:0012649	Increased inflammatory response	337867	UBAC2	ORPHA:117
HP:0012649	Increased inflammatory response	51752	ERAP1	ORPHA:117
HP:0012649	Increased inflammatory response	8302	KLRC4	ORPHA:117
HP:0012649	Increased inflammatory response	79722	ANKRD55	ORPHA:85408
HP:0012649	Increased inflammatory response	5771	PTPN2	ORPHA:85408
HP:0012649	Increased inflammatory response	2255	FGF10	ORPHA:2363
HP:0012649	Increased inflammatory response	6335	SCN9A	OMIM:133020
HP:0012649	Increased inflammatory response	55699	IARS2	OMIM:616007
HP:0012649	Increased inflammatory response	4547	MTTP	ORPHA:14
HP:0012649	Increased inflammatory response	2934	GSN	ORPHA:85448
HP:0012649	Increased inflammatory response	4081	MAB21L1	OMIM:618479
HP:0012649	Increased inflammatory response	2200	FBN1	OMIM:616914
HP:0012649	Increased inflammatory response	59335	PRDM12	OMIM:616488
HP:0012649	Increased inflammatory response	83706	FERMT3	OMIM:612840
HP:0012649	Increased inflammatory response	54440	SASH3	OMIM:301082
HP:0012649	Increased inflammatory response	113189	CHST14	OMIM:601776
HP:0012649	Increased inflammatory response	113189	CHST14	ORPHA:2953
HP:0012649	Increased inflammatory response	10525	HYOU1	OMIM:233600
HP:0012649	Increased inflammatory response	4780	NFE2L2	OMIM:617744
HP:0012649	Increased inflammatory response	5317	PKP1	ORPHA:158668
HP:0012649	Increased inflammatory response	85358	SHANK3	ORPHA:48652
HP:0012649	Increased inflammatory response	29940	DSE	ORPHA:2953
HP:0012649	Increased inflammatory response	57591	MRTFA	OMIM:618847
HP:0012649	Increased inflammatory response	26258	BLOC1S6	OMIM:614171
HP:0012649	Increased inflammatory response	4153	MBL2	OMIM:614372
HP:0012649	Increased inflammatory response	3852	KRT5	ORPHA:79396
HP:0012649	Increased inflammatory response	3861	KRT14	ORPHA:79396
HP:0012649	Increased inflammatory response	8883	NAE1	OMIM:620210
HP:0012649	Increased inflammatory response	8974	P4HA2	ORPHA:397
HP:0012649	Increased inflammatory response	144811	LACC1	ORPHA:85414
HP:0012649	Increased inflammatory response	4282	MIF	ORPHA:85414
HP:0012649	Increased inflammatory response	3932	LCK	OMIM:615758
HP:0012649	Increased inflammatory response	4094	MAF	ORPHA:1272
HP:0012649	Increased inflammatory response	4094	MAF	OMIM:601088
HP:0012649	Increased inflammatory response	10216	PRG4	ORPHA:2848
HP:0012649	Increased inflammatory response	3662	IRF4	ORPHA:3452
HP:0012649	Increased inflammatory response	5373	PMM2	ORPHA:79318
HP:0012649	Increased inflammatory response	5373	PMM2	OMIM:212065
HP:0012649	Increased inflammatory response	2213	FCGR2B	OMIM:152700
HP:0012649	Increased inflammatory response	11277	TREX1	OMIM:152700
HP:0012649	Increased inflammatory response	1773	DNASE1	OMIM:152700
HP:0012649	Increased inflammatory response	3039	HBA1	ORPHA:163596
HP:0012649	Increased inflammatory response	3040	HBA2	ORPHA:163596
HP:0012649	Increased inflammatory response	4594	MMUT	ORPHA:289916
HP:0012649	Increased inflammatory response	4594	MMUT	OMIM:251000
HP:0012649	Increased inflammatory response	4594	MMUT	ORPHA:79312
HP:0012649	Increased inflammatory response	26160	IFT172	OMIM:619471
HP:0012649	Increased inflammatory response	1629	DBT	OMIM:248600
HP:0012649	Increased inflammatory response	593	BCKDHA	OMIM:248600
HP:0012649	Increased inflammatory response	594	BCKDHB	OMIM:248600
HP:0012649	Increased inflammatory response	26191	PTPN22	ORPHA:900
HP:0012649	Increased inflammatory response	3115	HLA-DPB1	ORPHA:900
HP:0012649	Increased inflammatory response	5657	PRTN3	ORPHA:900
HP:0012649	Increased inflammatory response	3113	HLA-DPA1	ORPHA:900
HP:0012649	Increased inflammatory response	4023	LPL	OMIM:238600
HP:0012649	Increased inflammatory response	1080	CFTR	OMIM:167800
HP:0012649	Increased inflammatory response	1080	CFTR	OMIM:219700
HP:0012649	Increased inflammatory response	11330	CTRC	OMIM:167800
HP:0012649	Increased inflammatory response	6690	SPINK1	OMIM:167800
HP:0012649	Increased inflammatory response	5645	PRSS2	OMIM:167800
HP:0012649	Increased inflammatory response	5644	PRSS1	OMIM:167800
HP:0012649	Increased inflammatory response	79577	CDC73	ORPHA:143
HP:0012649	Increased inflammatory response	79577	CDC73	ORPHA:99880
HP:0012649	Increased inflammatory response	57104	PNPLA2	ORPHA:565612
HP:0012649	Increased inflammatory response	5244	ABCB4	ORPHA:69663
HP:0012649	Increased inflammatory response	5244	ABCB4	OMIM:600803
HP:0012649	Increased inflammatory response	4722	NDUFS3	OMIM:618230
HP:0012649	Increased inflammatory response	63924	CIDEC	ORPHA:435651
HP:0012649	Increased inflammatory response	50485	SMARCAL1	ORPHA:1830
HP:0012649	Increased inflammatory response	10165	SLC25A13	OMIM:603471
HP:0012649	Increased inflammatory response	10165	SLC25A13	ORPHA:247585
HP:0012649	Increased inflammatory response	2212	FCGR2A	OMIM:219700
HP:0012649	Increased inflammatory response	7040	TGFB1	OMIM:219700
HP:0012649	Increased inflammatory response	10320	IKZF1	ORPHA:36426
HP:0012649	Increased inflammatory response	72	ACTG2	OMIM:155310
HP:0012649	Increased inflammatory response	2859	GPR35	ORPHA:171
HP:0012649	Increased inflammatory response	10507	SEMA4D	ORPHA:171
HP:0012649	Increased inflammatory response	4485	MST1	ORPHA:171
HP:0012649	Increased inflammatory response	6925	TCF4	ORPHA:171
HP:0012649	Increased inflammatory response	10273	STUB1	ORPHA:412057
HP:0012649	Increased inflammatory response	133686	NADK2	ORPHA:431361
HP:0012649	Increased inflammatory response	2538	G6PC1	OMIM:232200
HP:0012649	Increased inflammatory response	26007	TKFC	OMIM:618805
HP:0012649	Increased inflammatory response	5468	PPARG	ORPHA:79083
HP:0012649	Increased inflammatory response	875	CBS	OMIM:236200
HP:0012649	Increased inflammatory response	5095	PCCA	OMIM:606054
HP:0012649	Increased inflammatory response	5096	PCCB	OMIM:606054
HP:0012649	Increased inflammatory response	5205	ATP8B1	OMIM:243300
HP:0012649	Increased inflammatory response	1175	AP2S1	OMIM:600740
HP:0012649	Increased inflammatory response	9054	NFS1	OMIM:619386
HP:0012649	Increased inflammatory response	64788	LMF1	OMIM:246650
HP:0012649	Increased inflammatory response	344	APOC2	OMIM:207750
HP:0012649	Increased inflammatory response	846	CASR	OMIM:145980
HP:0012649	Increased inflammatory response	2767	GNA11	OMIM:145981
HP:0012649	Increased inflammatory response	7388	UQCRH	OMIM:620137
HP:0012649	Increased inflammatory response	338328	GPIHBP1	OMIM:615947
HP:0012649	Increased inflammatory response	2313	FLI1	ORPHA:370348
HP:0012649	Increased inflammatory response	3155	HMGCL	ORPHA:20
HP:0012649	Increased inflammatory response	100147744	RNU7-1	OMIM:619487
HP:0012649	Increased inflammatory response	286053	NSMCE2	OMIM:617253
HP:0012649	Increased inflammatory response	4000	LMNA	OMIM:151660
HP:0012649	Increased inflammatory response	26580	BSCL2	OMIM:269700
HP:0012649	Increased inflammatory response	79415	CYBC1	OMIM:618935
HP:0012649	Increased inflammatory response	348	APOE	ORPHA:412
HP:0012649	Increased inflammatory response	10555	AGPAT2	OMIM:608594
HP:0012649	Increased inflammatory response	22948	CCT5	OMIM:256840
HP:0012649	Increased inflammatory response	22948	CCT5	ORPHA:139578
HP:0012649	Increased inflammatory response	7879	RAB7A	OMIM:600882
HP:0012649	Increased inflammatory response	2165	F13B	ORPHA:331
HP:0012649	Increased inflammatory response	2162	F13A1	ORPHA:331
HP:0012649	Increased inflammatory response	3123	HLA-DRB1	OMIM:181000
HP:0012649	Increased inflammatory response	7454	WAS	OMIM:301000
HP:0012649	Increased inflammatory response	7454	WAS	ORPHA:906
HP:0012649	Increased inflammatory response	55612	FERMT1	ORPHA:2908
HP:0012649	Increased inflammatory response	331	XIAP	OMIM:300635
HP:0012649	Increased inflammatory response	10616	RBCK1	OMIM:615895
HP:0012649	Increased inflammatory response	5243	ABCB1	OMIM:612244
HP:0012649	Increased inflammatory response	6550	SLC9A3	OMIM:616868
HP:0012649	Increased inflammatory response	3257	HPS1	OMIM:203300
HP:0012649	Increased inflammatory response	987	LRBA	OMIM:614700
HP:0012649	Increased inflammatory response	7456	WIPF1	ORPHA:906
HP:0012649	Increased inflammatory response	8737	RIPK1	OMIM:618108
HP:0012649	Increased inflammatory response	10095	ARPC1B	OMIM:617718
HP:0012649	Increased inflammatory response	2542	SLC37A4	OMIM:232220
HP:0012649	Increased inflammatory response	2542	SLC37A4	OMIM:232240
HP:0012649	Increased inflammatory response	2542	SLC37A4	ORPHA:79259
HP:0012649	Increased inflammatory response	3106	HLA-B	OMIM:106300
HP:0012649	Increased inflammatory response	3106	HLA-B	ORPHA:29207
HP:0012649	Increased inflammatory response	5293	PIK3CD	OMIM:619281
HP:0012649	Increased inflammatory response	2000	ELF4	OMIM:301074
HP:0012649	Increased inflammatory response	64127	NOD2	OMIM:266600
HP:0012649	Increased inflammatory response	3569	IL6	OMIM:266600
HP:0012649	Increased inflammatory response	57511	COG6	OMIM:614576
HP:0012649	Increased inflammatory response	345611	IRGM	OMIM:612278
HP:0012649	Increased inflammatory response	59067	IL21	OMIM:615767
HP:0012649	Increased inflammatory response	64858	DCLRE1B	OMIM:620133
HP:0012649	Increased inflammatory response	411	ARSB	OMIM:253200
HP:0012649	Increased inflammatory response	10559	SLC35A1	ORPHA:238459
HP:0012649	Increased inflammatory response	2188	FANCF	OMIM:603467
HP:0012649	Increased inflammatory response	6445	SGCG	OMIM:253700
HP:0012649	Increased inflammatory response	4534	MTM1	ORPHA:596
HP:0012649	Increased inflammatory response	7092	TLL1	ORPHA:99103
HP:0012649	Increased inflammatory response	57057	TBX20	ORPHA:99103
HP:0012649	Increased inflammatory response	4624	MYH6	ORPHA:99103
HP:0012649	Increased inflammatory response	1482	NKX2-5	ORPHA:99103
HP:0012649	Increased inflammatory response	70	ACTC1	ORPHA:99103
HP:0012649	Increased inflammatory response	10370	CITED2	ORPHA:99103
HP:0012649	Increased inflammatory response	2626	GATA4	ORPHA:99103
HP:0012649	Increased inflammatory response	2627	GATA6	ORPHA:99103
HP:0012649	Increased inflammatory response	28962	OSTM1	ORPHA:85179
HP:0012649	Increased inflammatory response	9841	ZBTB24	OMIM:614069
HP:0012649	Increased inflammatory response	374879	ZNF699	OMIM:619488
HP:0012649	Increased inflammatory response	2215	FCGR3B	ORPHA:464370
HP:0012649	Increased inflammatory response	775	CACNA1C	OMIM:601005
HP:0012649	Increased inflammatory response	6261	RYR1	ORPHA:98905
HP:0012649	Increased inflammatory response	5903	RANBP2	OMIM:608033
HP:0012649	Increased inflammatory response	80199	FUZ	ORPHA:1136
HP:0012649	Increased inflammatory response	6440	SFTPC	ORPHA:70587
HP:0012649	Increased inflammatory response	21	ABCA3	ORPHA:70587
HP:0012649	Increased inflammatory response	6439	SFTPB	ORPHA:70587
HP:0012649	Increased inflammatory response	4054	LTBP3	OMIM:617809
HP:0012649	Increased inflammatory response	3476	IGBP1	OMIM:300472
HP:0012649	Increased inflammatory response	79848	CSPP1	ORPHA:397715
HP:0012649	Increased inflammatory response	9786	KIAA0586	ORPHA:397715
HP:0012649	Increased inflammatory response	4914	NTRK1	ORPHA:642
HP:0012649	Increased inflammatory response	4784	NFIX	OMIM:602535
HP:0012649	Increased inflammatory response	427	ASAH1	ORPHA:2590
HP:0012649	Increased inflammatory response	23556	PIGN	ORPHA:280633
HP:0012649	Increased inflammatory response	2629	GBA1	OMIM:230900
HP:0012649	Increased inflammatory response	535	ATP6V0A1	OMIM:619971
HP:0012649	Increased inflammatory response	4281	MID1	ORPHA:2745
HP:0012649	Increased inflammatory response	29957	SLC25A24	OMIM:612289
HP:0012649	Increased inflammatory response	9361	LONP1	ORPHA:79243
HP:0012649	Increased inflammatory response	5160	PDHA1	ORPHA:79243
HP:0012649	Increased inflammatory response	3431	SP110	ORPHA:79124
HP:0012649	Increased inflammatory response	378884	NHLRC1	ORPHA:501
HP:0012649	Increased inflammatory response	7957	EPM2A	ORPHA:501
HP:0012649	Increased inflammatory response	3119	HLA-DQB1	ORPHA:930
HP:0012649	Increased inflammatory response	9244	CRLF1	ORPHA:930
HP:0012649	Increased inflammatory response	3117	HLA-DQA1	ORPHA:930
HP:0012649	Increased inflammatory response	4842	NOS1	ORPHA:930
HP:0012649	Increased inflammatory response	90417	KNSTRN	ORPHA:221139
HP:0012649	Increased inflammatory response	10755	GIPC1	ORPHA:98897
HP:0012649	Increased inflammatory response	100996717	NOTCH2NLC	ORPHA:98897
HP:0012649	Increased inflammatory response	51750	RTEL1	OMIM:615190
HP:0012649	Increased inflammatory response	5422	POLA1	OMIM:301220
HP:0012649	Increased inflammatory response	10625	IVNS1ABP	OMIM:618969
HP:0012649	Increased inflammatory response	6499	SKIC2	OMIM:614602
HP:0012649	Increased inflammatory response	6499	SKIC2	ORPHA:84064
HP:0012649	Increased inflammatory response	8915	BCL10	OMIM:616098
HP:0012649	Increased inflammatory response	23149	FCHO1	OMIM:619164
HP:0012649	Increased inflammatory response	9652	SKIC3	ORPHA:84064
HP:0012649	Increased inflammatory response	4689	NCF4	OMIM:613960
HP:0012649	Increased inflammatory response	811	CALR	ORPHA:131
HP:0012649	Increased inflammatory response	3717	JAK2	ORPHA:131
HP:0012649	Increased inflammatory response	2153	F5	ORPHA:131
HP:0012649	Increased inflammatory response	4629	MYH11	OMIM:619351
HP:0012649	Increased inflammatory response	629	CFB	OMIM:615561
HP:0012649	Increased inflammatory response	672	BRCA1	ORPHA:168829
HP:0012649	Increased inflammatory response	1991	ELANE	ORPHA:2686
HP:0012649	Increased inflammatory response	4868	NPHS1	ORPHA:656
HP:0012649	Increased inflammatory response	23607	CD2AP	ORPHA:656
HP:0012649	Increased inflammatory response	9688	NUP93	ORPHA:656
HP:0012649	Increased inflammatory response	4643	MYO1E	ORPHA:656
HP:0012649	Increased inflammatory response	64423	INF2	ORPHA:656
HP:0012649	Increased inflammatory response	26130	GAPVD1	ORPHA:656
HP:0012649	Increased inflammatory response	7490	WT1	ORPHA:656
HP:0012649	Increased inflammatory response	57122	NUP107	ORPHA:656
HP:0012649	Increased inflammatory response	51479	ANKFY1	ORPHA:656
HP:0012649	Increased inflammatory response	54443	ANLN	ORPHA:656
HP:0012649	Increased inflammatory response	5800	PTPRO	ORPHA:656
HP:0012649	Increased inflammatory response	286204	CRB2	ORPHA:656
HP:0012649	Increased inflammatory response	23165	NUP205	ORPHA:656
HP:0012649	Increased inflammatory response	2013	EMP2	ORPHA:656
HP:0012649	Increased inflammatory response	79023	NUP37	ORPHA:656
HP:0012649	Increased inflammatory response	51196	PLCE1	ORPHA:656
HP:0012649	Increased inflammatory response	79902	NUP85	ORPHA:656
HP:0012649	Increased inflammatory response	396	ARHGDIA	ORPHA:656
HP:0012649	Increased inflammatory response	79934	COQ8B	ORPHA:656
HP:0012649	Increased inflammatory response	23279	NUP160	ORPHA:656
HP:0012649	Increased inflammatory response	9863	MAGI2	ORPHA:656
HP:0012649	Increased inflammatory response	81	ACTN4	ORPHA:656
HP:0012649	Increased inflammatory response	7225	TRPC6	ORPHA:656
HP:0012649	Increased inflammatory response	8542	APOL1	ORPHA:656
HP:0012649	Increased inflammatory response	54885	TBC1D8B	ORPHA:656
HP:0012649	Increased inflammatory response	7827	NPHS2	ORPHA:656
HP:0012649	Increased inflammatory response	83478	ARHGAP24	ORPHA:656
HP:0012649	Increased inflammatory response	23500	DAAM2	ORPHA:656
HP:0012649	Increased inflammatory response	5076	PAX2	ORPHA:656
HP:0012649	Increased inflammatory response	55746	NUP133	ORPHA:656
HP:0012649	Increased inflammatory response	57724	EPG5	OMIM:242840
HP:0012649	Increased inflammatory response	9842	PLEKHM1	ORPHA:210110
HP:0012649	Increased inflammatory response	25923	ATL3	OMIM:615632
HP:0012649	Increased inflammatory response	25923	ATL3	ORPHA:36386
HP:0012649	Increased inflammatory response	4803	NGF	OMIM:608654
HP:0012649	Increased inflammatory response	1786	DNMT1	OMIM:614116
HP:0012649	Increased inflammatory response	51062	ATL1	OMIM:613708
HP:0012649	Increased inflammatory response	51062	ATL1	ORPHA:36386
HP:0012649	Increased inflammatory response	10558	SPTLC1	OMIM:162400
HP:0012649	Increased inflammatory response	10558	SPTLC1	ORPHA:36386
HP:0012649	Increased inflammatory response	28982	FLVCR1	ORPHA:88628
HP:0012649	Increased inflammatory response	54463	RETREG1	OMIM:613115
HP:0012649	Increased inflammatory response	2019	EN1	OMIM:619218
HP:0012649	Increased inflammatory response	205327	C2orf69	OMIM:619423
HP:0012649	Increased inflammatory response	9517	SPTLC2	OMIM:613640
HP:0012649	Increased inflammatory response	9517	SPTLC2	ORPHA:36386
HP:0012649	Increased inflammatory response	203859	ANO5	OMIM:166260
HP:0012649	Increased inflammatory response	6773	STAT2	OMIM:618886
HP:0012649	Increased inflammatory response	8913	CACNA1G	ORPHA:458803
HP:0012649	Increased inflammatory response	3107	HLA-C	OMIM:177900
HP:0012649	Increased inflammatory response	2625	GATA3	ORPHA:2237
HP:0012649	Increased inflammatory response	130340	AP1S3	OMIM:616106
HP:0012649	Increased inflammatory response	64919	BCL11B	OMIM:617237
HP:0012649	Increased inflammatory response	26525	IL36RN	OMIM:614204
HP:0012649	Increased inflammatory response	359948	IRF2BP2	OMIM:617765
HP:0012649	Increased inflammatory response	55315	SLC29A3	ORPHA:168569
HP:0012649	Increased inflammatory response	1308	COL17A1	ORPHA:79406
HP:0012649	Increased inflammatory response	26873	OPLAH	OMIM:260005
HP:0012649	Increased inflammatory response	5979	RET	OMIM:142623
HP:0012649	Increased inflammatory response	3875	KRT18	OMIM:215600
HP:0012649	Increased inflammatory response	4068	SH2D1A	OMIM:308240
HP:0012649	Increased inflammatory response	4358	MPV17	OMIM:256810
HP:0012649	Increased inflammatory response	4507	MTAP	OMIM:112250
HP:0012649	Increased inflammatory response	1130	LYST	ORPHA:167
HP:0012649	Increased inflammatory response	1130	LYST	OMIM:214500
HP:0012649	Increased inflammatory response	3561	IL2RG	ORPHA:276
HP:0012649	Increased inflammatory response	10804	GJB6	ORPHA:477
HP:0012649	Increased inflammatory response	2706	GJB2	ORPHA:477
HP:0012649	Increased inflammatory response	2706	GJB2	OMIM:148210
HP:0012649	Increased inflammatory response	1536	CYBB	OMIM:306400
HP:0012649	Increased inflammatory response	4615	MYD88	ORPHA:183713
HP:0012649	Increased inflammatory response	1075	CTSC	OMIM:245010
HP:0012649	Increased inflammatory response	4688	NCF2	OMIM:233710
HP:0012649	Increased inflammatory response	653361	NCF1	OMIM:233700
HP:0012649	Increased inflammatory response	1535	CYBA	OMIM:233690
HP:0012649	Increased inflammatory response	7535	ZAP70	ORPHA:911
HP:0012649	Increased inflammatory response	7390	UROS	ORPHA:79277
HP:0012649	Increased inflammatory response	2623	GATA1	ORPHA:79277
HP:0012649	Increased inflammatory response	2050	EPHB4	ORPHA:90186
HP:0012649	Increased inflammatory response	6868	ADAM17	ORPHA:294023
HP:0012649	Increased inflammatory response	1956	EGFR	ORPHA:294023
HP:0012649	Increased inflammatory response	7389	UROD	ORPHA:95159
HP:0012649	Increased inflammatory response	81704	DOCK8	ORPHA:217390
HP:0012649	Increased inflammatory response	3459	IFNGR1	OMIM:209950
HP:0012649	Increased inflammatory response	3459	IFNGR1	OMIM:615978
HP:0012649	Increased inflammatory response	3594	IL12RB1	ORPHA:319552
HP:0012649	Increased inflammatory response	63929	XPNPEP3	OMIM:613159
HP:0012649	Increased inflammatory response	2710	GK	OMIM:307030
HP:0012649	Increased inflammatory response	4921	DDR2	OMIM:271665
HP:0012649	Increased inflammatory response	3763	KCNJ6	ORPHA:435628
HP:0012649	Increased inflammatory response	3763	KCNJ6	OMIM:614098
HP:0012649	Increased inflammatory response	5351	PLOD1	OMIM:225400
HP:0012649	Increased inflammatory response	5351	PLOD1	ORPHA:1900
HP:0012649	Increased inflammatory response	6477	SIAH1	OMIM:619314
HP:0012649	Increased inflammatory response	8425	LTBP4	OMIM:613177
HP:0012649	Increased inflammatory response	11133	KPTN	OMIM:615637
HP:0012649	Increased inflammatory response	11133	KPTN	ORPHA:397612
HP:0012649	Increased inflammatory response	81857	MED25	OMIM:616449
HP:0012649	Increased inflammatory response	81857	MED25	ORPHA:464738
HP:0012649	Increased inflammatory response	755	CFAP410	OMIM:602271
HP:0012649	Increased inflammatory response	126792	B3GALT6	OMIM:609465
HP:0012649	Increased inflammatory response	1302	COL11A2	OMIM:215150
HP:0012649	Increased inflammatory response	10157	AASS	ORPHA:2203
HP:0012649	Increased inflammatory response	3417	IDH1	ORPHA:99646
HP:0012649	Increased inflammatory response	6904	TBCD	ORPHA:496641
HP:0012649	Increased inflammatory response	3952	LEP	OMIM:614962
HP:0012649	Increased inflammatory response	8792	TNFRSF11A	OMIM:612301
HP:0012649	Increased inflammatory response	7080	NKX2-1	ORPHA:209905
HP:0012649	Increased inflammatory response	79087	ALG12	OMIM:607143
HP:0012649	Increased inflammatory response	79087	ALG12	ORPHA:79324
HP:0012649	Increased inflammatory response	54681	P4HTM	OMIM:618493
HP:0012649	Increased inflammatory response	23594	ORC6	OMIM:613803
HP:0012649	Increased inflammatory response	26040	SETBP1	ORPHA:798
HP:0012649	Increased inflammatory response	2328	FMO3	OMIM:602079
HP:0012649	Increased inflammatory response	2588	GALNS	OMIM:253000
HP:0012649	Increased inflammatory response	718	C3	OMIM:613779
HP:0012649	Increased inflammatory response	4796	TONSL	ORPHA:93357
HP:0012649	Increased inflammatory response	51341	ZBTB7A	OMIM:619769
HP:0012649	Increased inflammatory response	27040	LAT	OMIM:617514
HP:0012649	Increased inflammatory response	284119	CAVIN1	OMIM:613327
HP:0012649	Increased inflammatory response	871	SERPINH1	OMIM:613848
HP:0012649	Increased inflammatory response	55294	FBXW7	OMIM:620012
HP:0012649	Increased inflammatory response	4233	MET	OMIM:114550
HP:0012649	Increased inflammatory response	8312	AXIN1	OMIM:114550
HP:0012649	Increased inflammatory response	5157	PDGFRL	OMIM:114550
HP:0012649	Increased inflammatory response	3482	IGF2R	OMIM:114550
HP:0012649	Increased inflammatory response	324	APC	OMIM:114550
HP:0012649	Increased inflammatory response	1499	CTNNB1	OMIM:114550
HP:0012649	Increased inflammatory response	404672	GTF2H5	ORPHA:33364
HP:0012649	Increased inflammatory response	833	CARS1	ORPHA:33364
HP:0012649	Increased inflammatory response	2068	ERCC2	ORPHA:33364
HP:0012649	Increased inflammatory response	7737	RNF113A	ORPHA:33364
HP:0012649	Increased inflammatory response	136647	MPLKIP	ORPHA:33364
HP:0012649	Increased inflammatory response	6897	TARS1	ORPHA:33364
HP:0012649	Increased inflammatory response	2071	ERCC3	ORPHA:33364
HP:0012649	Increased inflammatory response	2961	GTF2E2	ORPHA:33364
HP:0012649	Increased inflammatory response	23592	LEMD3	ORPHA:166119
HP:0012649	Increased inflammatory response	5184	PEPD	OMIM:170100
HP:0012649	Increased inflammatory response	5184	PEPD	ORPHA:742
HP:0012649	Increased inflammatory response	727	C5	OMIM:609536
HP:0012649	Increased inflammatory response	8626	TP63	ORPHA:69085
HP:0012649	Increased inflammatory response	1314	COPA	OMIM:616414
HP:0012649	Increased inflammatory response	64170	CARD9	OMIM:212050
HP:0012649	Increased inflammatory response	919	CD247	ORPHA:169160
HP:0012649	Increased inflammatory response	6772	STAT1	OMIM:614162
HP:0012649	Increased inflammatory response	326	AIRE	OMIM:240300
HP:0012649	Increased inflammatory response	6097	RORC	OMIM:616622
HP:0012649	Increased inflammatory response	9948	WDR1	OMIM:150550
HP:0012649	Increased inflammatory response	3559	IL2RA	OMIM:606367
HP:0012649	Increased inflammatory response	1777	DNASE2	OMIM:619858
HP:0012649	Increased inflammatory response	92579	G6PC3	OMIM:612541
HP:0012649	Increased inflammatory response	22806	IKZF3	OMIM:619437
HP:0012649	Increased inflammatory response	3588	IL10RB	OMIM:612567
HP:0012649	Increased inflammatory response	3110	MNX1	OMIM:176450
HP:0012649	Increased inflammatory response	5371	PML	ORPHA:520
HP:0012649	Increased inflammatory response	5914	RARA	ORPHA:520
HP:0012649	Increased inflammatory response	81608	FIP1L1	ORPHA:520
HP:0012649	Increased inflammatory response	64859	NABP1	ORPHA:520
HP:0012649	Increased inflammatory response	4926	NUMA1	ORPHA:520
HP:0012649	Increased inflammatory response	7704	ZBTB16	ORPHA:520
HP:0012649	Increased inflammatory response	79718	TBL1XR1	ORPHA:520
HP:0012649	Increased inflammatory response	3702	ITK	OMIM:613011
HP:0012649	Increased inflammatory response	84876	ORAI1	OMIM:612782
HP:0012649	Increased inflammatory response	399	RHOH	OMIM:618307
HP:0012649	Increased inflammatory response	10379	IRF9	OMIM:618648
HP:0012649	Increased inflammatory response	25974	MMACHC	ORPHA:79282
HP:0012649	Increased inflammatory response	8942	KYNU	ORPHA:79155
HP:0012649	Increased inflammatory response	1053	CEBPE	OMIM:260570
HP:0012649	Increased inflammatory response	54941	RNF125	OMIM:616260
HP:0012649	Increased inflammatory response	54453	RIN2	OMIM:613075
HP:0012649	Increased inflammatory response	148022	TICAM1	OMIM:614850
HP:0012649	Increased inflammatory response	5591	PRKDC	OMIM:615966
HP:0012649	Increased inflammatory response	1289	COL5A1	OMIM:130000
HP:0012649	Increased inflammatory response	85452	CFAP74	OMIM:620197
HP:0012649	Increased inflammatory response	1290	COL5A2	OMIM:130010
HP:0012649	Increased inflammatory response	4194	MDM4	OMIM:618849
HP:0012649	Increased inflammatory response	6688	SPI1	OMIM:619707
HP:0012649	Increased inflammatory response	22845	DOLK	OMIM:610768
HP:0012649	Increased inflammatory response	2683	B4GALT1	ORPHA:79332
HP:0012649	Increased inflammatory response	4072	EPCAM	ORPHA:92050
HP:0012649	Increased inflammatory response	105371045	PERCC1	ORPHA:92050
HP:0012649	Increased inflammatory response	22861	NLRP1	OMIM:617388
HP:0012649	Increased inflammatory response	5339	PLEC	OMIM:226670
HP:0012649	Increased inflammatory response	1439	CSF2RB	ORPHA:264675
HP:0012649	Increased inflammatory response	1438	CSF2RA	ORPHA:264675
HP:0012649	Increased inflammatory response	9342	SNAP29	OMIM:609528
HP:0012649	Increased inflammatory response	55791	LRIF1	OMIM:619477
HP:0012649	Increased inflammatory response	55037	PTCD3	OMIM:619057
HP:0012649	Increased inflammatory response	2260	FGFR1	ORPHA:220386
HP:0012649	Increased inflammatory response	2260	FGFR1	ORPHA:93924
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:220386
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93926
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93924
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93925
HP:0012649	Increased inflammatory response	10735	STAG2	ORPHA:220386
HP:0012649	Increased inflammatory response	10735	STAG2	ORPHA:93925
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:220386
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93926
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93924
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93925
HP:0012649	Increased inflammatory response	8243	SMC1A	ORPHA:220386
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:220386
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93926
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93924
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93925
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:220386
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93926
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93924
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93925
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:220386
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93926
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93924
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93925
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:220386
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93926
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93924
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93925
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:220386
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93926
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93924
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93925
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:220386
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93926
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93924
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93925
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:220386
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93926
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93924
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93925
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:220386
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93926
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93924
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93925
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:220386
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93926
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93924
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93925
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:220386
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93926
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93924
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93925
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:220386
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93926
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93924
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93925
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:220386
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93926
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93924
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93925
HP:0012649	Increased inflammatory response	27125	AFF4	OMIM:616368
HP:0012649	Increased inflammatory response	27125	AFF4	ORPHA:444077
HP:0012649	Increased inflammatory response	6597	SMARCA4	ORPHA:1465
HP:0012649	Increased inflammatory response	6598	SMARCB1	ORPHA:1465
HP:0012649	Increased inflammatory response	6659	SOX4	ORPHA:1465
HP:0012649	Increased inflammatory response	8289	ARID1A	ORPHA:1465
HP:0012649	Increased inflammatory response	6602	SMARCD1	ORPHA:1465
HP:0012649	Increased inflammatory response	57492	ARID1B	ORPHA:1465
HP:0012649	Increased inflammatory response	196528	ARID2	ORPHA:1465
HP:0012649	Increased inflammatory response	6605	SMARCE1	ORPHA:1465
HP:0012649	Increased inflammatory response	6664	SOX11	ORPHA:1465
HP:0012649	Increased inflammatory response	8398	PLA2G6	ORPHA:35069
HP:0012649	Increased inflammatory response	5048	PAFAH1B1	ORPHA:95232
HP:0012649	Increased inflammatory response	526	ATP6V1B2	ORPHA:79500
HP:0012649	Increased inflammatory response	57465	TBC1D24	ORPHA:79500
HP:0012649	Increased inflammatory response	9896	FIG4	OMIM:216340
HP:0012649	Increased inflammatory response	1678	TIMM8A	ORPHA:52368
HP:0012649	Increased inflammatory response	283446	MYO1H	OMIM:619482
HP:0012649	Increased inflammatory response	57190	SELENON	ORPHA:2020
HP:0012649	Increased inflammatory response	58	ACTA1	ORPHA:2020
HP:0012649	Increased inflammatory response	4633	MYL2	ORPHA:2020
HP:0012649	Increased inflammatory response	3679	ITGA7	ORPHA:2020
HP:0012649	Increased inflammatory response	7169	TPM2	ORPHA:2020
HP:0012649	Increased inflammatory response	9200	HACD1	ORPHA:2020
HP:0012649	Increased inflammatory response	7170	TPM3	ORPHA:2020
HP:0012649	Increased inflammatory response	51776	MAP3K20	ORPHA:2020
HP:0012649	Increased inflammatory response	80025	PANK2	ORPHA:216866
HP:0012649	Increased inflammatory response	92935	MARS2	OMIM:616430
HP:0012649	Increased inflammatory response	4700	NDUFA6	OMIM:618253
HP:0012649	Increased inflammatory response	6392	SDHD	OMIM:619167
HP:0012649	Increased inflammatory response	10342	TFG	ORPHA:90117
HP:0012649	Increased inflammatory response	23007	PLCH1	ORPHA:93925
HP:0012649	Increased inflammatory response	2720	GLB1	ORPHA:79255
HP:0012649	Increased inflammatory response	4001	LMNB1	ORPHA:99027
HP:0012649	Increased inflammatory response	5813	PURA	ORPHA:314655
HP:0012649	Increased inflammatory response	1288	COL4A6	ORPHA:1018
HP:0012649	Increased inflammatory response	1287	COL4A5	ORPHA:1018
HP:0012649	Increased inflammatory response	538	ATP7A	ORPHA:198
HP:0012649	Increased inflammatory response	540	ATP7B	ORPHA:905
HP:0012649	Increased inflammatory response	5265	SERPINA1	ORPHA:60
HP:0012649	Increased inflammatory response	9420	CYP7B1	OMIM:613812
HP:0012649	Increased inflammatory response	9780	PIEZO1	OMIM:194380
HP:0012649	Increased inflammatory response	23534	TNPO3	ORPHA:186
HP:0012649	Increased inflammatory response	6689	SPIB	ORPHA:186
HP:0012649	Increased inflammatory response	5450	POU2AF1	ORPHA:186
HP:0012649	Increased inflammatory response	9966	TNFSF15	ORPHA:186
HP:0012649	Increased inflammatory response	79258	MMEL1	ORPHA:186
HP:0012649	Increased inflammatory response	3663	IRF5	ORPHA:186
HP:0012649	Increased inflammatory response	169792	GLIS3	OMIM:610199
HP:0012649	Increased inflammatory response	23729	SHPK	ORPHA:440713
HP:0012649	Increased inflammatory response	10166	SLC25A15	ORPHA:415
HP:0012649	Increased inflammatory response	9095	TBX19	ORPHA:199296
HP:0012649	Increased inflammatory response	1581	CYP7A1	ORPHA:209902
HP:0012649	Increased inflammatory response	330	BIRC3	ORPHA:52417
HP:0012649	Increased inflammatory response	3492	IGH	ORPHA:52417
HP:0012649	Increased inflammatory response	56244	BTNL2	OMIM:612387
HP:0012649	Increased inflammatory response	56244	BTNL2	ORPHA:797
HP:0012649	Increased inflammatory response	4598	MVK	OMIM:610377
HP:0012649	Increased inflammatory response	9968	MED12	OMIM:301068
HP:0012649	Increased inflammatory response	51726	DNAJB11	ORPHA:730
HP:0012649	Increased inflammatory response	23193	GANAB	ORPHA:730
HP:0012649	Increased inflammatory response	5310	PKD1	ORPHA:730
HP:0012649	Increased inflammatory response	5311	PKD2	ORPHA:730
HP:0012649	Increased inflammatory response	29880	ALG5	ORPHA:730
HP:0012649	Increased inflammatory response	9742	IFT140	ORPHA:730
HP:0012649	Increased inflammatory response	79796	ALG9	ORPHA:730
HP:0012649	Increased inflammatory response	80114	BICC1	ORPHA:730
HP:0012649	Increased inflammatory response	284252	KCTD1	OMIM:181270
HP:0012649	Increased inflammatory response	284252	KCTD1	ORPHA:2036
HP:0012649	Increased inflammatory response	7498	XDH	OMIM:278300
HP:0012649	Increased inflammatory response	10516	FBLN5	ORPHA:90348
HP:0012649	Increased inflammatory response	10516	FBLN5	ORPHA:90349
HP:0012649	Increased inflammatory response	5832	ALDH18A1	ORPHA:90348
HP:0012649	Increased inflammatory response	4052	LTBP1	ORPHA:90349
HP:0012649	Increased inflammatory response	30008	EFEMP2	ORPHA:90349
HP:0012649	Increased inflammatory response	3209	HOXA13	OMIM:140000
HP:0012649	Increased inflammatory response	54796	BNC2	ORPHA:93110
HP:0012649	Increased inflammatory response	51284	TLR7	OMIM:301080
HP:0012649	Increased inflammatory response	56984	PSMG2	OMIM:619183
HP:0012649	Increased inflammatory response	84868	HAVCR2	OMIM:618398
HP:0012649	Increased inflammatory response	84868	HAVCR2	ORPHA:86884
HP:0012649	Increased inflammatory response	10535	RNASEH2A	ORPHA:51
HP:0012649	Increased inflammatory response	84153	RNASEH2C	ORPHA:51
HP:0012649	Increased inflammatory response	25939	SAMHD1	ORPHA:51
HP:0012649	Increased inflammatory response	79621	RNASEH2B	ORPHA:51
HP:0012649	Increased inflammatory response	103	ADAR	ORPHA:51
HP:0012649	Increased inflammatory response	134353	LSM11	ORPHA:51
HP:0012649	Increased inflammatory response	55243	KIRREL1	OMIM:619201
HP:0012649	Increased inflammatory response	8270	LAGE3	OMIM:301006
HP:0012649	Increased inflammatory response	25959	KANK2	OMIM:617783
HP:0012649	Increased inflammatory response	6399	TRAPPC2	ORPHA:93284
HP:0012649	Increased inflammatory response	3872	KRT17	OMIM:167210
HP:0012649	Increased inflammatory response	7156	TOP3A	OMIM:618097
HP:0012649	Increased inflammatory response	8558	CDK10	OMIM:617694
HP:0012649	Increased inflammatory response	57539	WDR35	OMIM:613610
HP:0012649	Increased inflammatory response	617	BCS1L	OMIM:124000
HP:0012649	Increased inflammatory response	199221	DZIP1L	ORPHA:731
HP:0012649	Increased inflammatory response	5314	PKHD1	ORPHA:731
HP:0012649	Increased inflammatory response	5314	PKHD1	ORPHA:53035
HP:0012649	Increased inflammatory response	8318	CDC45	OMIM:617063
HP:0012649	Increased inflammatory response	9076	CLDN1	OMIM:607626
HP:0012649	Increased inflammatory response	5994	RFXAP	ORPHA:572
HP:0012649	Increased inflammatory response	4261	CIITA	ORPHA:572
HP:0012649	Increased inflammatory response	5993	RFX5	ORPHA:572
HP:0012649	Increased inflammatory response	8625	RFXANK	ORPHA:572
HP:0012649	Increased inflammatory response	5966	REL	OMIM:619652
HP:0012649	Increased inflammatory response	51473	DCDC2	OMIM:617394
HP:0012649	Increased inflammatory response	959	CD40LG	OMIM:308230
HP:0012649	Increased inflammatory response	113220	KIF12	OMIM:619662
HP:0012649	Increased inflammatory response	3939	LDHA	ORPHA:284426
HP:0012649	Increased inflammatory response	57152	SLURP1	ORPHA:87503
HP:0012649	Increased inflammatory response	54795	TRPM4	OMIM:618531
HP:0012649	Increased inflammatory response	219972	MPEG1	OMIM:619223
HP:0012649	Increased inflammatory response	6774	STAT3	OMIM:147060
HP:0012649	Increased inflammatory response	5238	PGM3	ORPHA:443811
HP:0012649	Increased inflammatory response	90268	OTULIN	OMIM:619986
HP:0012649	Increased inflammatory response	84342	COG8	OMIM:611182
HP:0012649	Increased inflammatory response	8547	FCN3	OMIM:613860
HP:0012649	Increased inflammatory response	2271	FH	OMIM:606812
HP:0012649	Increased inflammatory response	37	ACADVL	OMIM:201475
HP:0012649	Increased inflammatory response	84992	PIGY	OMIM:616809
HP:0012649	Increased inflammatory response	50619	DEF6	OMIM:619573
HP:0012649	Increased inflammatory response	64135	IFIH1	OMIM:619773
HP:0012649	Increased inflammatory response	22900	CARD8	OMIM:619079
HP:0012649	Increased inflammatory response	7317	UBA1	OMIM:301054
HP:0012649	Increased inflammatory response	5950	RBP4	OMIM:615147
HP:0012649	Increased inflammatory response	23385	NCSTN	OMIM:142690
HP:0012649	Increased inflammatory response	56983	POGLUT1	ORPHA:79145
HP:0012649	Increased inflammatory response	23509	POFUT1	ORPHA:79145
HP:0012649	Increased inflammatory response	171023	ASXL1	ORPHA:98850
HP:0012649	Increased inflammatory response	54790	TET2	ORPHA:98850
HP:0012649	Increased inflammatory response	867	CBL	ORPHA:98850
HP:0012649	Increased inflammatory response	861	RUNX1	ORPHA:98850
HP:0012649	Increased inflammatory response	6427	SRSF2	ORPHA:98850
HP:0012649	Increased inflammatory response	57169	ZNFX1	OMIM:619644
HP:0012649	Increased inflammatory response	2038	EPB42	ORPHA:822
HP:0012649	Increased inflammatory response	6521	SLC4A1	ORPHA:822
HP:0012649	Increased inflammatory response	6710	SPTB	ORPHA:822
HP:0012649	Increased inflammatory response	6708	SPTA1	ORPHA:822
HP:0012649	Increased inflammatory response	286	ANK1	ORPHA:822
HP:0012649	Increased inflammatory response	857	CAV1	OMIM:606721
HP:0012649	Increased inflammatory response	4558	MT-TF	ORPHA:550
HP:0012649	Increased inflammatory response	4572	MT-TQ	ORPHA:550
HP:0012649	Increased inflammatory response	4512	MT-CO1	ORPHA:550
HP:0012649	Increased inflammatory response	4513	MT-CO2	ORPHA:550
HP:0012649	Increased inflammatory response	4514	MT-CO3	ORPHA:550
HP:0012649	Increased inflammatory response	4578	MT-TW	ORPHA:550
HP:0012649	Increased inflammatory response	4540	MT-ND5	ORPHA:550
HP:0012649	Increased inflammatory response	4541	MT-ND6	ORPHA:550
HP:0012649	Increased inflammatory response	4535	MT-ND1	ORPHA:550
HP:0012649	Increased inflammatory response	4538	MT-ND4	ORPHA:550
HP:0012649	Increased inflammatory response	4567	MT-TL1	ORPHA:550
HP:0012649	Increased inflammatory response	4574	MT-TS1	ORPHA:550
HP:0012649	Increased inflammatory response	4575	MT-TS2	ORPHA:550
HP:0012649	Increased inflammatory response	4564	MT-TH	ORPHA:550
HP:0012649	Increased inflammatory response	2642	GCGR	OMIM:619290
HP:0012649	Increased inflammatory response	1357	CPA1	ORPHA:676
HP:0012649	Increased inflammatory response	10747	MASP2	OMIM:613791
HP:0012649	Increased inflammatory response	27178	IL37	OMIM:619398
HP:0012649	Increased inflammatory response	29775	CARD10	OMIM:619632
HP:0012649	Increased inflammatory response	60468	BACH2	OMIM:618394
HP:0012649	Increased inflammatory response	55765	INAVA	OMIM:618077
HP:0012649	Increased inflammatory response	96459	FNIP1	OMIM:619705
HP:0012649	Increased inflammatory response	2984	GUCY2C	OMIM:614616
HP:0012649	Increased inflammatory response	3105	HLA-A	ORPHA:179
HP:0012649	Increased inflammatory response	224	ALDH3A2	ORPHA:816
HP:0012649	Increased inflammatory response	3593	IL12B	ORPHA:3287
HP:0012649	Increased inflammatory response	6945	MLX	ORPHA:3287
HP:0012649	Increased inflammatory response	57105	CYSLTR2	ORPHA:39044
HP:0012649	Increased inflammatory response	2776	GNAQ	ORPHA:39044
HP:0012649	Increased inflammatory response	23451	SF3B1	ORPHA:39044
HP:0012649	Increased inflammatory response	3655	ITGA6	ORPHA:79403
HP:0012649	Increased inflammatory response	3691	ITGB4	ORPHA:79403
HP:0012649	Increased inflammatory response	825	CAPN3	OMIM:253600
HP:0012649	Increased inflammatory response	3181	HNRNPA2B1	OMIM:615422
HP:0012649	Increased inflammatory response	23175	LPIN1	ORPHA:99845
HP:0012649	Increased inflammatory response	3908	LAMA2	ORPHA:258
HP:0012649	Increased inflammatory response	4221	MEN1	OMIM:131100
HP:0012649	Increased inflammatory response	60684	TRAPPC11	OMIM:615356
HP:0012649	Increased inflammatory response	3376	IARS1	ORPHA:541423
HP:0012649	Increased inflammatory response	81031	SLC2A10	ORPHA:3342
HP:0012649	Increased inflammatory response	9719	ADAMTSL2	ORPHA:1901
HP:0012649	Increased inflammatory response	9509	ADAMTS2	ORPHA:1901
HP:0012649	Increased inflammatory response	2887	GRB10	ORPHA:96182
HP:0012649	Increased inflammatory response	2743	GLRB	ORPHA:3197
HP:0012649	Increased inflammatory response	2741	GLRA1	ORPHA:3197
HP:0012649	Increased inflammatory response	10243	GPHN	ORPHA:3197
HP:0012649	Increased inflammatory response	84896	ATAD1	ORPHA:3197
HP:0012649	Increased inflammatory response	9152	SLC6A5	ORPHA:3197
HP:0012649	Increased inflammatory response	6812	STXBP1	ORPHA:495818
HP:0012649	Increased inflammatory response	5723	PSPH	ORPHA:79350
HP:0012649	Increased inflammatory response	26227	PHGDH	ORPHA:79351
HP:0012649	Increased inflammatory response	57623	ZFAT	OMIM:608175
HP:0012649	Increased inflammatory response	7038	TG	OMIM:608175
HP:0012649	Increased inflammatory response	207	AKT1	OMIM:615109
HP:0012649	Increased inflammatory response	7084	TK2	ORPHA:254886
HP:0012649	Increased inflammatory response	9692	PRORP	OMIM:619737
HP:0012649	Increased inflammatory response	7319	UBE2A	ORPHA:163956
HP:0012649	Increased inflammatory response	55851	PSENEN	OMIM:613736
HP:0012649	Increased inflammatory response	5663	PSEN1	OMIM:613737
HP:0012649	Increased inflammatory response	1508	CTSB	ORPHA:50943
HP:0012649	Increased inflammatory response	23600	AMACR	ORPHA:79095
HP:0012649	Increased inflammatory response	23600	AMACR	OMIM:214950
HP:0012649	Increased inflammatory response	80270	HSD3B7	OMIM:607765
HP:0012649	Increased inflammatory response	63894	VIPAS39	OMIM:613404
HP:0012649	Increased inflammatory response	26276	VPS33B	OMIM:208085
HP:0012649	Increased inflammatory response	6718	AKR1D1	ORPHA:79303
HP:0012649	Increased inflammatory response	3043	HBB	ORPHA:231226
HP:0012649	Increased inflammatory response	4088	SMAD3	OMIM:613795
HP:0012649	Increased inflammatory response	7046	TGFBR1	OMIM:609192
HP:0012649	Increased inflammatory response	7048	TGFBR2	OMIM:610168
HP:0012649	Increased inflammatory response	7042	TGFB2	OMIM:614816
HP:0012649	Increased inflammatory response	7043	TGFB3	OMIM:615582
HP:0002435	Meningocele	80184	CEP290	OMIM:611134
HP:0002435	Meningocele	134701	RIPPLY2	ORPHA:2311
HP:0002435	Meningocele	10683	DLL3	ORPHA:2311
HP:0002435	Meningocele	3955	LFNG	ORPHA:2311
HP:0002435	Meningocele	145873	MESP2	ORPHA:2311
HP:0002435	Meningocele	65062	TMEM237	OMIM:614424
HP:0002435	Meningocele	57688	ZSWIM6	ORPHA:1827
HP:0002435	Meningocele	148789	B3GALNT2	ORPHA:588
HP:0002435	Meningocele	29925	GMPPB	ORPHA:588
HP:0002435	Meningocele	79147	FKRP	ORPHA:588
HP:0002435	Meningocele	9215	LARGE1	ORPHA:588
HP:0002435	Meningocele	29954	POMT2	ORPHA:588
HP:0002435	Meningocele	2218	FKTN	ORPHA:588
HP:0002435	Meningocele	55624	POMGNT1	ORPHA:588
HP:0002435	Meningocele	10585	POMT1	ORPHA:588
HP:0002435	Meningocele	79848	CSPP1	ORPHA:397715
HP:0002435	Meningocele	4854	NOTCH3	OMIM:130720
HP:0002435	Meningocele	4854	NOTCH3	ORPHA:2789
HP:0002435	Meningocele	2697	GJA1	ORPHA:1010
HP:0002435	Meningocele	51259	TMEM216	OMIM:603194
HP:0002435	Meningocele	9786	KIAA0586	OMIM:616546
HP:0002435	Meningocele	80781	COL18A1	OMIM:267750
HP:0002435	Meningocele	5727	PTCH1	OMIM:610828
HP:0002435	Meningocele	7476	WNT7A	OMIM:276820
HP:0002435	Meningocele	65250	CPLANE1	OMIM:277170
HP:0002435	Meningocele	6608	SMO	OMIM:601707
HP:0002435	Meningocele	7547	ZIC3	OMIM:306955
HP:0002435	Meningocele	64840	PORCN	OMIM:305600
HP:0002435	Meningocele	341640	FREM2	ORPHA:2052
HP:0002435	Meningocele	80144	FRAS1	ORPHA:2052
HP:0002435	Meningocele	80144	FRAS1	OMIM:219000
HP:0002435	Meningocele	23426	GRIP1	ORPHA:2052
HP:0002435	Meningocele	5077	PAX3	OMIM:193500
HP:0002435	Meningocele	4488	MSX2	ORPHA:60015
HP:0002435	Meningocele	60529	ALX4	ORPHA:60015
HP:0002435	Meningocele	168667	BMPER	ORPHA:66637
HP:0002435	Meningocele	57216	VANGL2	OMIM:182940
HP:0002435	Meningocele	6347	CCL2	OMIM:182940
HP:0002435	Meningocele	81839	VANGL1	OMIM:182940
HP:0002435	Meningocele	81839	VANGL1	OMIM:600145
HP:0002435	Meningocele	6862	TBXT	OMIM:182940
HP:0002435	Meningocele	80199	FUZ	OMIM:182940
HP:0002435	Meningocele	80199	FUZ	ORPHA:1136
HP:0002435	Meningocele	10093	ARPC4	OMIM:620141
HP:0002435	Meningocele	25942	SIN3A	ORPHA:94065
HP:0002435	Meningocele	6628	SNRPB	ORPHA:1393
HP:0002435	Meningocele	84667	HES7	OMIM:613686
HP:0002435	Meningocele	8481	OFD1	OMIM:311200
HP:0002435	Meningocele	51339	DACT1	ORPHA:63260
HP:0002435	Meningocele	2737	GLI3	ORPHA:93322
HP:0002435	Meningocele	2316	FLNA	ORPHA:90652
HP:0002435	Meningocele	3481	IGF2	ORPHA:2128
HP:0002435	Meningocele	10984	KCNQ1OT1	ORPHA:2128
HP:0002435	Meningocele	283120	H19	ORPHA:2128
HP:0002435	Meningocele	6309	SC5D	OMIM:607330
HP:0002435	Meningocele	56623	INPP5E	OMIM:213300
HP:0002435	Meningocele	1312	COMT	ORPHA:567
HP:0002435	Meningocele	221037	JMJD1C	ORPHA:567
HP:0002435	Meningocele	2812	GP1BB	ORPHA:567
HP:0002435	Meningocele	6239	RREB1	ORPHA:567
HP:0002435	Meningocele	6899	TBX1	ORPHA:567
HP:0002435	Meningocele	7290	HIRA	ORPHA:567
HP:0002435	Meningocele	9632	SEC24C	ORPHA:567
HP:0002435	Meningocele	7353	UFD1	ORPHA:567
HP:0002435	Meningocele	421	ARVCF	ORPHA:567
HP:0002435	Meningocele	3190	HNRNPK	OMIM:616580
HP:0002436	Occipital meningocele	9786	KIAA0586	OMIM:616546
HP:0002436	Occipital meningocele	80781	COL18A1	OMIM:267750
HP:0002436	Occipital meningocele	5727	PTCH1	OMIM:610828
HP:0002436	Occipital meningocele	7476	WNT7A	OMIM:276820
HP:0002436	Occipital meningocele	65250	CPLANE1	OMIM:277170
HP:0002436	Occipital meningocele	6608	SMO	OMIM:601707
HP:0002436	Occipital meningocele	56623	INPP5E	OMIM:213300
HP:0002436	Occipital meningocele	1312	COMT	ORPHA:567
HP:0002436	Occipital meningocele	221037	JMJD1C	ORPHA:567
HP:0002436	Occipital meningocele	2812	GP1BB	ORPHA:567
HP:0002436	Occipital meningocele	6239	RREB1	ORPHA:567
HP:0002436	Occipital meningocele	6899	TBX1	ORPHA:567
HP:0002436	Occipital meningocele	7290	HIRA	ORPHA:567
HP:0002436	Occipital meningocele	9632	SEC24C	ORPHA:567
HP:0002436	Occipital meningocele	7353	UFD1	ORPHA:567
HP:0002436	Occipital meningocele	421	ARVCF	ORPHA:567
HP:0002438	Cerebellar malformation	10682	EBP	ORPHA:401973
HP:0002438	Cerebellar malformation	10682	EBP	OMIM:300960
HP:0002438	Cerebellar malformation	10682	EBP	OMIM:302960
HP:0002438	Cerebellar malformation	56896	DPYSL5	OMIM:619435
HP:0002438	Cerebellar malformation	4893	NRAS	ORPHA:2612
HP:0002438	Cerebellar malformation	4893	NRAS	OMIM:249400
HP:0002438	Cerebellar malformation	23556	PIGN	ORPHA:2059
HP:0002438	Cerebellar malformation	7355	SLC35A2	ORPHA:356961
HP:0002438	Cerebellar malformation	65062	TMEM237	OMIM:614424
HP:0002438	Cerebellar malformation	65062	TMEM237	ORPHA:564
HP:0002438	Cerebellar malformation	7545	ZIC1	OMIM:616602
HP:0002438	Cerebellar malformation	7545	ZIC1	OMIM:618736
HP:0002438	Cerebellar malformation	84942	WDR73	OMIM:251300
HP:0002438	Cerebellar malformation	2737	GLI3	ORPHA:36
HP:0002438	Cerebellar malformation	374654	KIF7	ORPHA:36
HP:0002438	Cerebellar malformation	79848	CSPP1	ORPHA:397715
HP:0002438	Cerebellar malformation	79848	CSPP1	ORPHA:564
HP:0002438	Cerebellar malformation	9786	KIAA0586	ORPHA:397715
HP:0002438	Cerebellar malformation	57465	TBC1D24	OMIM:220500
HP:0002438	Cerebellar malformation	57465	TBC1D24	ORPHA:79500
HP:0002438	Cerebellar malformation	55112	DYNC2I1	ORPHA:93271
HP:0002438	Cerebellar malformation	57560	IFT80	ORPHA:93271
HP:0002438	Cerebellar malformation	57539	WDR35	ORPHA:93271
HP:0002438	Cerebellar malformation	89891	DYNC2I2	ORPHA:93271
HP:0002438	Cerebellar malformation	84162	BLTP1	OMIM:617822
HP:0002438	Cerebellar malformation	4081	MAB21L1	OMIM:618479
HP:0002438	Cerebellar malformation	51259	TMEM216	OMIM:603194
HP:0002438	Cerebellar malformation	51259	TMEM216	ORPHA:564
HP:0002438	Cerebellar malformation	55636	CHD7	ORPHA:138
HP:0002438	Cerebellar malformation	9723	SEMA3E	ORPHA:138
HP:0002438	Cerebellar malformation	9215	LARGE1	OMIM:236670
HP:0002438	Cerebellar malformation	9215	LARGE1	ORPHA:899
HP:0002438	Cerebellar malformation	9215	LARGE1	OMIM:613154
HP:0002438	Cerebellar malformation	84892	POMGNT2	ORPHA:899
HP:0002438	Cerebellar malformation	1282	COL4A1	ORPHA:899
HP:0002438	Cerebellar malformation	10329	RXYLT1	ORPHA:899
HP:0002438	Cerebellar malformation	11041	B4GAT1	ORPHA:899
HP:0002438	Cerebellar malformation	11041	B4GAT1	OMIM:615287
HP:0002438	Cerebellar malformation	79068	FTO	OMIM:612938
HP:0002438	Cerebellar malformation	57492	ARID1B	OMIM:135900
HP:0002438	Cerebellar malformation	57492	ARID1B	ORPHA:1465
HP:0002438	Cerebellar malformation	3899	AFF3	OMIM:619297
HP:0002438	Cerebellar malformation	6597	SMARCA4	ORPHA:1465
HP:0002438	Cerebellar malformation	6597	SMARCA4	OMIM:614609
HP:0002438	Cerebellar malformation	6598	SMARCB1	ORPHA:1465
HP:0002438	Cerebellar malformation	6598	SMARCB1	OMIM:614608
HP:0002438	Cerebellar malformation	6659	SOX4	ORPHA:1465
HP:0002438	Cerebellar malformation	8289	ARID1A	ORPHA:1465
HP:0002438	Cerebellar malformation	8289	ARID1A	OMIM:614607
HP:0002438	Cerebellar malformation	6601	SMARCC2	ORPHA:1465
HP:0002438	Cerebellar malformation	6602	SMARCD1	ORPHA:1465
HP:0002438	Cerebellar malformation	196528	ARID2	ORPHA:1465
HP:0002438	Cerebellar malformation	6605	SMARCE1	ORPHA:1465
HP:0002438	Cerebellar malformation	6605	SMARCE1	OMIM:616938
HP:0002438	Cerebellar malformation	6664	SOX11	ORPHA:1465
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	ORPHA:2834
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	OMIM:219200
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	ORPHA:357074
HP:0002438	Cerebellar malformation	1801	DPH1	OMIM:616901
HP:0002438	Cerebellar malformation	1801	DPH1	ORPHA:459061
HP:0002438	Cerebellar malformation	27315	PGAP2	OMIM:614207
HP:0002438	Cerebellar malformation	157570	ESCO2	ORPHA:2319
HP:0002438	Cerebellar malformation	5340	PLG	ORPHA:722
HP:0002438	Cerebellar malformation	5340	PLG	OMIM:217090
HP:0002438	Cerebellar malformation	84314	TMEM107	ORPHA:564
HP:0002438	Cerebellar malformation	26123	TCTN3	ORPHA:564
HP:0002438	Cerebellar malformation	79867	TCTN2	ORPHA:564
HP:0002438	Cerebellar malformation	80776	B9D2	ORPHA:564
HP:0002438	Cerebellar malformation	80776	B9D2	OMIM:614175
HP:0002438	Cerebellar malformation	79600	TCTN1	ORPHA:564
HP:0002438	Cerebellar malformation	57096	RPGRIP1	ORPHA:564
HP:0002438	Cerebellar malformation	80184	CEP290	ORPHA:564
HP:0002438	Cerebellar malformation	80184	CEP290	OMIM:611134
HP:0002438	Cerebellar malformation	57545	CC2D2A	ORPHA:564
HP:0002438	Cerebellar malformation	79583	TMEM231	ORPHA:564
HP:0002438	Cerebellar malformation	79583	TMEM231	ORPHA:2752
HP:0002438	Cerebellar malformation	91147	TMEM67	ORPHA:564
HP:0002438	Cerebellar malformation	91147	TMEM67	OMIM:607361
HP:0002438	Cerebellar malformation	79770	TXNDC15	ORPHA:564
HP:0002438	Cerebellar malformation	27077	B9D1	ORPHA:564
HP:0002438	Cerebellar malformation	23322	RPGRIP1L	ORPHA:564
HP:0002438	Cerebellar malformation	27031	NPHP3	OMIM:267010
HP:0002438	Cerebellar malformation	27031	NPHP3	OMIM:208540
HP:0002438	Cerebellar malformation	27031	NPHP3	ORPHA:3032
HP:0002438	Cerebellar malformation	23258	DENND5A	OMIM:617281
HP:0002438	Cerebellar malformation	171023	ASXL1	ORPHA:97297
HP:0002438	Cerebellar malformation	171023	ASXL1	OMIM:605039
HP:0002438	Cerebellar malformation	9184	BUB3	ORPHA:1052
HP:0002438	Cerebellar malformation	699	BUB1	ORPHA:1052
HP:0002438	Cerebellar malformation	9702	CEP57	ORPHA:1052
HP:0002438	Cerebellar malformation	9319	TRIP13	ORPHA:1052
HP:0002438	Cerebellar malformation	701	BUB1B	ORPHA:1052
HP:0002438	Cerebellar malformation	701	BUB1B	OMIM:257300
HP:0002438	Cerebellar malformation	84188	FAR1	ORPHA:438178
HP:0002438	Cerebellar malformation	84188	FAR1	OMIM:616154
HP:0002438	Cerebellar malformation	124997	WDR81	OMIM:617967
HP:0002438	Cerebellar malformation	2683	B4GALT1	OMIM:607091
HP:0002438	Cerebellar malformation	2683	B4GALT1	ORPHA:79332
HP:0002438	Cerebellar malformation	26005	C2CD3	OMIM:615948
HP:0002438	Cerebellar malformation	26005	C2CD3	ORPHA:434179
HP:0002438	Cerebellar malformation	26227	PHGDH	OMIM:256520
HP:0002438	Cerebellar malformation	10804	GJB6	ORPHA:477
HP:0002438	Cerebellar malformation	2706	GJB2	ORPHA:477
HP:0002438	Cerebellar malformation	4927	NUP88	ORPHA:994
HP:0002438	Cerebellar malformation	7846	TUBA1A	ORPHA:994
HP:0002438	Cerebellar malformation	4654	MYOD1	ORPHA:994
HP:0002438	Cerebellar malformation	4593	MUSK	ORPHA:994
HP:0002438	Cerebellar malformation	5913	RAPSN	ORPHA:994
HP:0002438	Cerebellar malformation	6572	SLC18A3	ORPHA:994
HP:0002438	Cerebellar malformation	285489	DOK7	ORPHA:994
HP:0002438	Cerebellar malformation	7737	RNF113A	OMIM:300953
HP:0002438	Cerebellar malformation	56006	SMG9	OMIM:616920
HP:0002438	Cerebellar malformation	998	CDC42	ORPHA:487796
HP:0002438	Cerebellar malformation	51524	TMEM138	OMIM:614465
HP:0002438	Cerebellar malformation	8239	USP9X	ORPHA:480880
HP:0002438	Cerebellar malformation	8239	USP9X	OMIM:300968
HP:0002438	Cerebellar malformation	4534	MTM1	OMIM:310400
HP:0002438	Cerebellar malformation	526	ATP6V1B2	ORPHA:79500
HP:0002438	Cerebellar malformation	54880	BCOR	OMIM:300166
HP:0002438	Cerebellar malformation	203068	TUBB	OMIM:156610
HP:0002438	Cerebellar malformation	55640	FLVCR2	OMIM:225790
HP:0002438	Cerebellar malformation	28952	CCDC22	OMIM:300963
HP:0002438	Cerebellar malformation	28952	CCDC22	ORPHA:7
HP:0002438	Cerebellar malformation	80210	ARMC9	OMIM:617622
HP:0002438	Cerebellar malformation	54676	GTPBP2	OMIM:617988
HP:0002438	Cerebellar malformation	5373	PMM2	ORPHA:79318
HP:0002438	Cerebellar malformation	9897	WASHC5	OMIM:220210
HP:0002438	Cerebellar malformation	9897	WASHC5	ORPHA:7
HP:0002438	Cerebellar malformation	2239	GPC4	ORPHA:373
HP:0002438	Cerebellar malformation	2719	GPC3	ORPHA:373
HP:0002438	Cerebellar malformation	23007	PLCH1	OMIM:619895
HP:0002438	Cerebellar malformation	2121	EVC	OMIM:225500
HP:0002438	Cerebellar malformation	132884	EVC2	OMIM:225500
HP:0002438	Cerebellar malformation	153241	CEP120	OMIM:616300
HP:0002438	Cerebellar malformation	523	ATP6V1A	ORPHA:357074
HP:0002438	Cerebellar malformation	529	ATP6V1E1	ORPHA:357074
HP:0002438	Cerebellar malformation	3798	KIF5A	OMIM:617235
HP:0002438	Cerebellar malformation	1028	CDKN1C	OMIM:130650
HP:0002438	Cerebellar malformation	10984	KCNQ1OT1	OMIM:130650
HP:0002438	Cerebellar malformation	3481	IGF2	OMIM:130650
HP:0002438	Cerebellar malformation	3784	KCNQ1	OMIM:130650
HP:0002438	Cerebellar malformation	738	VPS51	OMIM:618606
HP:0002438	Cerebellar malformation	1376	CPT2	ORPHA:228305
HP:0002438	Cerebellar malformation	10195	ALG3	ORPHA:79321
HP:0002438	Cerebellar malformation	219844	HYLS1	OMIM:236680
HP:0002438	Cerebellar malformation	4281	MID1	ORPHA:2745
HP:0002438	Cerebellar malformation	8905	AP1S2	OMIM:304340
HP:0002438	Cerebellar malformation	64840	PORCN	OMIM:305600
HP:0002438	Cerebellar malformation	2294	FOXF1	OMIM:265380
HP:0002438	Cerebellar malformation	5251	PHEX	ORPHA:89936
HP:0002438	Cerebellar malformation	5447	POR	OMIM:201750
HP:0002438	Cerebellar malformation	5447	POR	ORPHA:95699
HP:0002438	Cerebellar malformation	6309	SC5D	ORPHA:46059
HP:0002438	Cerebellar malformation	6309	SC5D	OMIM:607330
HP:0002438	Cerebellar malformation	3590	IL11RA	OMIM:614188
HP:0002438	Cerebellar malformation	5290	PIK3CA	ORPHA:60040
HP:0002438	Cerebellar malformation	4659	PPP1R12A	OMIM:618820
HP:0002438	Cerebellar malformation	6804	STX1A	ORPHA:904
HP:0002438	Cerebellar malformation	7461	CLIP2	ORPHA:904
HP:0002438	Cerebellar malformation	84277	DNAJC30	ORPHA:904
HP:0002438	Cerebellar malformation	8468	FKBP6	ORPHA:904
HP:0002438	Cerebellar malformation	5982	RFC2	ORPHA:904
HP:0002438	Cerebellar malformation	2969	GTF2I	ORPHA:904
HP:0002438	Cerebellar malformation	3984	LIMK1	ORPHA:904
HP:0002438	Cerebellar malformation	9569	GTF2IRD1	ORPHA:904
HP:0002438	Cerebellar malformation	155382	VPS37D	ORPHA:904
HP:0002438	Cerebellar malformation	155368	METTL27	ORPHA:904
HP:0002438	Cerebellar malformation	114049	BUD23	ORPHA:904
HP:0002438	Cerebellar malformation	7458	EIF4H	ORPHA:904
HP:0002438	Cerebellar malformation	84163	GTF2IRD2	ORPHA:904
HP:0002438	Cerebellar malformation	9275	BCL7B	ORPHA:904
HP:0002438	Cerebellar malformation	26608	TBL2	ORPHA:904
HP:0002438	Cerebellar malformation	653361	NCF1	ORPHA:904
HP:0002438	Cerebellar malformation	135886	TMEM270	ORPHA:904
HP:0002438	Cerebellar malformation	9031	BAZ1B	ORPHA:904
HP:0002438	Cerebellar malformation	22800	RRAS2	OMIM:618624
HP:0002438	Cerebellar malformation	10992	SF3B2	OMIM:164210
HP:0002438	Cerebellar malformation	4796	TONSL	ORPHA:93357
HP:0002438	Cerebellar malformation	4796	TONSL	OMIM:271510
HP:0002438	Cerebellar malformation	81839	VANGL1	ORPHA:3027
HP:0002438	Cerebellar malformation	80199	FUZ	ORPHA:3027
HP:0002438	Cerebellar malformation	5745	PTH1R	OMIM:600002
HP:0002438	Cerebellar malformation	4125	MAN2B1	ORPHA:309282
HP:0002438	Cerebellar malformation	79718	TBL1XR1	OMIM:602342
HP:0002438	Cerebellar malformation	79718	TBL1XR1	ORPHA:487825
HP:0002438	Cerebellar malformation	51360	MBTPS2	OMIM:308205
HP:0002438	Cerebellar malformation	29998	BICRA	OMIM:619325
HP:0002438	Cerebellar malformation	55159	RFWD3	OMIM:617784
HP:0002438	Cerebellar malformation	55215	FANCI	OMIM:609053
HP:0002438	Cerebellar malformation	6299	SALL1	ORPHA:857
HP:0002438	Cerebellar malformation	51339	DACT1	ORPHA:857
HP:0002438	Cerebellar malformation	6595	SMARCA2	OMIM:619293
HP:0002438	Cerebellar malformation	23387	SIK3	OMIM:618162
HP:0002438	Cerebellar malformation	2261	FGFR3	ORPHA:93262
HP:0002438	Cerebellar malformation	6651	SON	ORPHA:500150
HP:0002438	Cerebellar malformation	1108	CHD4	OMIM:617159
HP:0002438	Cerebellar malformation	7048	TGFBR2	OMIM:610168
HP:0002438	Cerebellar malformation	2316	FLNA	ORPHA:1826
HP:0002438	Cerebellar malformation	6885	MAP3K7	ORPHA:1826
HP:0002438	Cerebellar malformation	2776	GNAQ	ORPHA:3205
HP:0002438	Cerebellar malformation	5727	PTCH1	ORPHA:77301
HP:0002438	Cerebellar malformation	1513	CTSK	ORPHA:763
HP:0002438	Cerebellar malformation	9401	RECQL4	OMIM:218600
HP:0002438	Cerebellar malformation	8091	HMGA2	ORPHA:94063
HP:0002438	Cerebellar malformation	23592	LEMD3	ORPHA:94063
HP:0002438	Cerebellar malformation	54903	MKS1	OMIM:249000
HP:0002438	Cerebellar malformation	2260	FGFR1	OMIM:101600
HP:0002438	Cerebellar malformation	7046	TGFBR1	OMIM:609192
HP:0002438	Cerebellar malformation	2200	FBN1	ORPHA:2462
HP:0002438	Cerebellar malformation	4853	NOTCH2	ORPHA:955
HP:0002438	Cerebellar malformation	29925	GMPPB	ORPHA:370959
HP:0002438	Cerebellar malformation	79147	FKRP	ORPHA:370959
HP:0002438	Cerebellar malformation	79147	FKRP	OMIM:606612
HP:0002438	Cerebellar malformation	79147	FKRP	OMIM:613153
HP:0002438	Cerebellar malformation	79147	FKRP	ORPHA:370980
HP:0002438	Cerebellar malformation	29954	POMT2	ORPHA:370959
HP:0002438	Cerebellar malformation	29954	POMT2	OMIM:613150
HP:0002438	Cerebellar malformation	84197	POMK	ORPHA:370959
HP:0002438	Cerebellar malformation	55624	POMGNT1	ORPHA:370959
HP:0002438	Cerebellar malformation	55624	POMGNT1	OMIM:613151
HP:0002438	Cerebellar malformation	55624	POMGNT1	OMIM:253280
HP:0002438	Cerebellar malformation	10585	POMT1	ORPHA:370959
HP:0002438	Cerebellar malformation	10585	POMT1	ORPHA:370980
HP:0002438	Cerebellar malformation	148789	B3GALNT2	OMIM:615181
HP:0002438	Cerebellar malformation	79659	DYNC2H1	OMIM:613091
HP:0002438	Cerebellar malformation	1281	COL3A1	OMIM:618343
HP:0002438	Cerebellar malformation	283989	TSEN54	ORPHA:2524
HP:0002438	Cerebellar malformation	116461	TSEN15	ORPHA:2524
HP:0002438	Cerebellar malformation	79042	TSEN34	ORPHA:2524
HP:0002438	Cerebellar malformation	80746	TSEN2	ORPHA:2524
HP:0002438	Cerebellar malformation	51091	SEPSECS	ORPHA:2524
HP:0002438	Cerebellar malformation	284217	LAMA1	OMIM:615960
HP:0002438	Cerebellar malformation	284217	LAMA1	ORPHA:370022
HP:0002438	Cerebellar malformation	8481	OFD1	OMIM:311200
HP:0002438	Cerebellar malformation	1605	DAG1	OMIM:616538
HP:0002438	Cerebellar malformation	1605	DAG1	ORPHA:370997
HP:0002438	Cerebellar malformation	11340	EXOSC8	ORPHA:2254
HP:0002438	Cerebellar malformation	5393	EXOSC9	ORPHA:2254
HP:0002438	Cerebellar malformation	23287	AGTPBP1	ORPHA:2254
HP:0002438	Cerebellar malformation	51010	EXOSC3	ORPHA:2254
HP:0002438	Cerebellar malformation	51010	EXOSC3	OMIM:614678
HP:0002438	Cerebellar malformation	7443	VRK1	ORPHA:2254
HP:0002438	Cerebellar malformation	91137	SLC25A46	ORPHA:2254
HP:0002438	Cerebellar malformation	2218	FKTN	ORPHA:370980
HP:0002438	Cerebellar malformation	2218	FKTN	OMIM:253800
HP:0002438	Cerebellar malformation	729920	CRPPA	ORPHA:370980
HP:0002438	Cerebellar malformation	9361	LONP1	ORPHA:79243
HP:0002438	Cerebellar malformation	5160	PDHA1	ORPHA:79243
HP:0002438	Cerebellar malformation	4519	MT-CYB	ORPHA:137675
HP:0002438	Cerebellar malformation	4983	OPHN1	OMIM:300486
HP:0002438	Cerebellar malformation	4983	OPHN1	ORPHA:137831
HP:0002438	Cerebellar malformation	5159	PDGFRB	OMIM:601812
HP:0002438	Cerebellar malformation	2892	GRIA3	ORPHA:364028
HP:0002438	Cerebellar malformation	160418	TMTC3	OMIM:617255
HP:0002438	Cerebellar malformation	27245	AHDC1	ORPHA:412069
HP:0002438	Cerebellar malformation	27245	AHDC1	OMIM:615829
HP:0002438	Cerebellar malformation	2911	GRM1	OMIM:614831
HP:0002438	Cerebellar malformation	57688	ZSWIM6	ORPHA:1827
HP:0002438	Cerebellar malformation	57688	ZSWIM6	OMIM:603671
HP:0002438	Cerebellar malformation	57572	DOCK6	OMIM:614219
HP:0002438	Cerebellar malformation	57231	SNX14	ORPHA:397709
HP:0002438	Cerebellar malformation	2077	ERF	OMIM:600775
HP:0002438	Cerebellar malformation	5977	DPF2	OMIM:618027
HP:0002438	Cerebellar malformation	6608	SMO	OMIM:601707
HP:0002438	Cerebellar malformation	6608	SMO	OMIM:241800
HP:0002438	Cerebellar malformation	63895	PIEZO2	OMIM:114300
HP:0002438	Cerebellar malformation	1788	DNMT3A	OMIM:615879
HP:0002438	Cerebellar malformation	4774	NFIA	OMIM:613735
HP:0002438	Cerebellar malformation	4774	NFIA	ORPHA:401986
HP:0002438	Cerebellar malformation	80036	TRPM3	OMIM:620224
HP:0002438	Cerebellar malformation	3845	KRAS	OMIM:609942
HP:0002438	Cerebellar malformation	10283	CWC27	ORPHA:166035
HP:0002438	Cerebellar malformation	9839	ZEB2	ORPHA:261537
HP:0002438	Cerebellar malformation	9839	ZEB2	ORPHA:261552
HP:0002438	Cerebellar malformation	284058	KANSL1	ORPHA:363965
HP:0002438	Cerebellar malformation	284058	KANSL1	ORPHA:363958
HP:0002438	Cerebellar malformation	4094	MAF	ORPHA:1272
HP:0002438	Cerebellar malformation	4094	MAF	OMIM:601088
HP:0002438	Cerebellar malformation	1436	CSF1R	OMIM:618476
HP:0002438	Cerebellar malformation	4854	NOTCH3	OMIM:130720
HP:0002438	Cerebellar malformation	3020	H3-3A	OMIM:619720
HP:0002438	Cerebellar malformation	8318	CDC45	OMIM:617063
HP:0002438	Cerebellar malformation	5500	PPP1CB	OMIM:617506
HP:0002438	Cerebellar malformation	2033	EP300	ORPHA:353284
HP:0002438	Cerebellar malformation	9772	TMEM94	OMIM:618316
HP:0002438	Cerebellar malformation	29072	SETD2	OMIM:620157
HP:0002438	Cerebellar malformation	29072	SETD2	OMIM:620155
HP:0002438	Cerebellar malformation	23516	SLC39A14	OMIM:144755
HP:0002438	Cerebellar malformation	51085	MLXIPL	OMIM:194050
HP:0002438	Cerebellar malformation	2006	ELN	OMIM:194050
HP:0002438	Cerebellar malformation	11128	POLR3A	ORPHA:3455
HP:0002438	Cerebellar malformation	6497	SKI	OMIM:182212
HP:0002438	Cerebellar malformation	4841	NONO	ORPHA:466791
HP:0002438	Cerebellar malformation	57551	TAOK1	OMIM:619575
HP:0002438	Cerebellar malformation	10274	STAG1	OMIM:617635
HP:0002438	Cerebellar malformation	4791	NFKB2	OMIM:615577
HP:0002438	Cerebellar malformation	22943	DKK1	ORPHA:268882
HP:0002438	Cerebellar malformation	1387	CREBBP	ORPHA:353277
HP:0002438	Cerebellar malformation	79947	DHDDS	OMIM:617836
HP:0002438	Cerebellar malformation	5076	PAX2	OMIM:120330
HP:0002438	Cerebellar malformation	1717	DHCR7	OMIM:270400
HP:0002438	Cerebellar malformation	25970	SH2B1	ORPHA:261197
HP:0002438	Cerebellar malformation	55703	POLR3B	OMIM:619742
HP:0002438	Cerebellar malformation	5888	RAD51	OMIM:617244
HP:0002438	Cerebellar malformation	4858	NOVA2	OMIM:618859
HP:0002438	Cerebellar malformation	161742	SPRED1	ORPHA:137605
HP:0002438	Cerebellar malformation	3265	HRAS	OMIM:218040
HP:0002438	Cerebellar malformation	26040	SETBP1	ORPHA:798
HP:0002438	Cerebellar malformation	2263	FGFR2	OMIM:101200
HP:0002438	Cerebellar malformation	84667	HES7	OMIM:613686
HP:0002439	Frontolimbic dementia	4137	MAPT	OMIM:601104
HP:0012650	Perisylvian polymicrogyria	23299	BICD2	OMIM:618291
HP:0012650	Perisylvian polymicrogyria	7846	TUBA1A	ORPHA:171680
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	9289	ADGRG1	OMIM:606854
HP:0012650	Perisylvian polymicrogyria	9289	ADGRG1	OMIM:615752
HP:0012650	Perisylvian polymicrogyria	23162	MAPK8IP3	OMIM:618443
HP:0012650	Perisylvian polymicrogyria	22930	RAB3GAP1	OMIM:600118
HP:0012650	Perisylvian polymicrogyria	5297	PI4KA	OMIM:616531
HP:0012650	Perisylvian polymicrogyria	347733	TUBB2B	ORPHA:300573
HP:0012650	Perisylvian polymicrogyria	10367	MICU1	OMIM:615673
HP:0012650	Perisylvian polymicrogyria	6472	SHMT2	OMIM:619121
HP:0012650	Perisylvian polymicrogyria	28514	DLL1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2253	FGF8	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6496	SIX3	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	7050	TGIF1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	4838	NODAL	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6469	SHH	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	7546	ZIC2	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6491	STIL	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2619	GAS1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	84976	DISP1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2736	GLI2	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	8928	FOXH1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	5727	PTCH1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	50937	CDON	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	477	ATP1A2	OMIM:619605
HP:0012650	Perisylvian polymicrogyria	478	ATP1A3	OMIM:619606
HP:0012650	Perisylvian polymicrogyria	128637	TBC1D20	OMIM:615663
HP:0012650	Perisylvian polymicrogyria	2475	MTOR	OMIM:616638
HP:0012650	Perisylvian polymicrogyria	54187	NANS	OMIM:610442
HP:0012650	Perisylvian polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0012650	Perisylvian polymicrogyria	27286	SRPX2	OMIM:300643
HP:0012653	Status asthmaticus	54914	FOCAD	OMIM:619991
HP:0012657	Abnormal brain positron emission tomography	25978	CHMP2B	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	25978	CHMP2B	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	5663	PSEN1	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	5663	PSEN1	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	2896	GRN	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	2896	GRN	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	54664	TMEM106B	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	54664	TMEM106B	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	8878	SQSTM1	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	4137	MAPT	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	4137	MAPT	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	54209	TREM2	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	54209	TREM2	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	7415	VCP	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	7415	VCP	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	8314	BAP1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	4771	NF2	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6598	SMARCB1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	5155	PDGFB	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	84231	TRAF7	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6608	SMO	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	207	AKT1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	5290	PIK3CA	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	7015	TERT	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	51684	SUFU	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6605	SMARCE1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	27235	COQ2	ORPHA:227510
HP:0012657	Abnormal brain positron emission tomography	27235	COQ2	ORPHA:98933
HP:0012657	Abnormal brain positron emission tomography	348	APOE	OMIM:606889
HP:0012657	Abnormal brain positron emission tomography	5664	PSEN2	OMIM:606889
HP:0012658	Abnormal brain FDG positron emission tomography	25978	CHMP2B	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	25978	CHMP2B	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	5663	PSEN1	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	5663	PSEN1	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	2896	GRN	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	2896	GRN	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	54664	TMEM106B	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	54664	TMEM106B	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	8878	SQSTM1	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	4137	MAPT	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	4137	MAPT	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	54209	TREM2	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	54209	TREM2	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	7415	VCP	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	7415	VCP	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	8314	BAP1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	4771	NF2	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6598	SMARCB1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	5155	PDGFB	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	84231	TRAF7	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6608	SMO	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	207	AKT1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	5290	PIK3CA	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	7015	TERT	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	51684	SUFU	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6605	SMARCE1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	27235	COQ2	ORPHA:227510
HP:0012658	Abnormal brain FDG positron emission tomography	27235	COQ2	ORPHA:98933
HP:0012658	Abnormal brain FDG positron emission tomography	348	APOE	OMIM:606889
HP:0012658	Abnormal brain FDG positron emission tomography	5664	PSEN2	OMIM:606889
HP:0009602	Abnormality of thumb phalanx	9935	MAFB	ORPHA:233
HP:0009602	Abnormality of thumb phalanx	1123	CHN1	ORPHA:233
HP:0009602	Abnormality of thumb phalanx	7291	TWIST1	ORPHA:794
HP:0009602	Abnormality of thumb phalanx	9488	PIGB	OMIM:618580
HP:0009602	Abnormality of thumb phalanx	10262	SF3B4	OMIM:154400
HP:0009602	Abnormality of thumb phalanx	10262	SF3B4	ORPHA:245
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	ORPHA:79500
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	OMIM:124480
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	ORPHA:79499
HP:0009602	Abnormality of thumb phalanx	57465	TBC1D24	ORPHA:79500
HP:0009602	Abnormality of thumb phalanx	57465	TBC1D24	OMIM:220500
HP:0009602	Abnormality of thumb phalanx	1749	DLX5	OMIM:183600
HP:0009602	Abnormality of thumb phalanx	4488	MSX2	OMIM:604757
HP:0009602	Abnormality of thumb phalanx	672	BRCA1	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	10459	MAD2L2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	675	BRCA2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55120	FANCL	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2187	FANCB	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2188	FANCF	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2189	FANCG	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	5888	RAD51	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	5889	RAD51C	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55159	RFWD3	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	83990	BRIP1	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	57697	FANCM	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	79728	PALB2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	84464	SLX4	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2072	ERCC4	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55215	FANCI	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	8626	TP63	OMIM:605289
HP:0009602	Abnormality of thumb phalanx	3782	KCNN3	OMIM:618658
HP:0009602	Abnormality of thumb phalanx	9469	CHST3	OMIM:245600
HP:0009602	Abnormality of thumb phalanx	26229	B3GAT3	OMIM:245600
HP:0009602	Abnormality of thumb phalanx	2317	FLNB	OMIM:150250
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	ORPHA:56304
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	OMIM:256050
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	OMIM:222600
HP:0009602	Abnormality of thumb phalanx	79796	ALG9	ORPHA:79328
HP:0009602	Abnormality of thumb phalanx	22858	CILK1	OMIM:612651
HP:0009602	Abnormality of thumb phalanx	1954	MEGF8	OMIM:614976
HP:0009602	Abnormality of thumb phalanx	54928	BPNT2	OMIM:614078
HP:0009602	Abnormality of thumb phalanx	5281	PIGF	OMIM:619356
HP:0009602	Abnormality of thumb phalanx	1387	CREBBP	OMIM:180849
HP:0009602	Abnormality of thumb phalanx	2033	EP300	OMIM:180849
HP:0009602	Abnormality of thumb phalanx	2735	GLI1	OMIM:174400
HP:0009602	Abnormality of thumb phalanx	3981	LIG4	ORPHA:235
HP:0009602	Abnormality of thumb phalanx	54888	NSUN2	ORPHA:235
HP:0009602	Abnormality of thumb phalanx	8200	GDF5	ORPHA:93384
HP:0009602	Abnormality of thumb phalanx	658	BMPR1B	ORPHA:93384
HP:0009602	Abnormality of thumb phalanx	51715	RAB23	OMIM:201000
HP:0009602	Abnormality of thumb phalanx	55012	PPP2R3C	OMIM:618419
HP:0009602	Abnormality of thumb phalanx	5053	PAH	ORPHA:2209
HP:0009602	Abnormality of thumb phalanx	124583	CANT1	OMIM:251450
HP:0009602	Abnormality of thumb phalanx	55280	CWF19L1	ORPHA:453521
HP:0009602	Abnormality of thumb phalanx	3549	IHH	OMIM:112500
HP:0009602	Abnormality of thumb phalanx	3549	IHH	OMIM:607778
HP:0009602	Abnormality of thumb phalanx	10084	PQBP1	OMIM:309500
HP:0009602	Abnormality of thumb phalanx	4841	NONO	OMIM:300967
HP:0009602	Abnormality of thumb phalanx	3239	HOXD13	OMIM:113200
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	ORPHA:959
HP:0009602	Abnormality of thumb phalanx	2316	FLNA	ORPHA:1826
HP:0009602	Abnormality of thumb phalanx	6885	MAP3K7	ORPHA:1826
HP:0009602	Abnormality of thumb phalanx	5293	PIK3CD	ORPHA:221139
HP:0009602	Abnormality of thumb phalanx	90417	KNSTRN	ORPHA:221139
HP:0009602	Abnormality of thumb phalanx	2778	GNAS	ORPHA:79445
HP:0009602	Abnormality of thumb phalanx	5727	PTCH1	OMIM:109400
HP:0009602	Abnormality of thumb phalanx	23019	CNOT1	ORPHA:556955
HP:0009602	Abnormality of thumb phalanx	3756	KCNH1	ORPHA:420561
HP:0009602	Abnormality of thumb phalanx	2702	GJA5	OMIM:612474
HP:0009602	Abnormality of thumb phalanx	2703	GJA8	OMIM:612474
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	OMIM:174500
HP:0009602	Abnormality of thumb phalanx	29089	UBE2T	OMIM:616435
HP:0009602	Abnormality of thumb phalanx	2261	FGFR3	OMIM:620192
HP:0009602	Abnormality of thumb phalanx	2261	FGFR3	ORPHA:2363
HP:0009602	Abnormality of thumb phalanx	2263	FGFR2	ORPHA:2363
HP:0009602	Abnormality of thumb phalanx	2255	FGF10	ORPHA:2363
HP:0009602	Abnormality of thumb phalanx	374654	KIF7	OMIM:200990
HP:0009602	Abnormality of thumb phalanx	6608	SMO	OMIM:601707
HP:0009602	Abnormality of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009602	Abnormality of thumb phalanx	71	ACTG1	ORPHA:2995
HP:0009602	Abnormality of thumb phalanx	60	ACTB	ORPHA:2995
HP:0009602	Abnormality of thumb phalanx	2737	GLI3	OMIM:174700
HP:0009602	Abnormality of thumb phalanx	2176	FANCC	OMIM:227645
HP:0009602	Abnormality of thumb phalanx	2178	FANCE	OMIM:600901
HP:0009602	Abnormality of thumb phalanx	157570	ESCO2	ORPHA:3103
HP:0009602	Abnormality of thumb phalanx	6472	SHMT2	OMIM:619121
HP:0009602	Abnormality of thumb phalanx	8260	NAA10	ORPHA:568
HP:0009602	Abnormality of thumb phalanx	54880	BCOR	ORPHA:568
HP:0009602	Abnormality of thumb phalanx	2175	FANCA	OMIM:227650
HP:0009602	Abnormality of thumb phalanx	6910	TBX5	OMIM:142900
HP:0009602	Abnormality of thumb phalanx	6135	RPL11	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6138	RPL15	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6229	RPS24	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6125	RPL5	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6204	RPS10	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6224	RPS20	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6165	RPL35A	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	2623	GATA1	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6223	RPS19	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6223	RPS19	OMIM:105650
HP:0009602	Abnormality of thumb phalanx	6232	RPS27	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6231	RPS26	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	11224	RPL35	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6160	RPL31	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6218	RPS17	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6201	RPS7	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6155	RPL27	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6154	RPL26	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6210	RPS15A	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	90121	TSR2	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6141	RPL18	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6235	RPS29	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6234	RPS28	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	51816	ADA2	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6299	SALL1	OMIM:107480
HP:0009602	Abnormality of thumb phalanx	6299	SALL1	ORPHA:857
HP:0009602	Abnormality of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009602	Abnormality of thumb phalanx	1855	DVL1	OMIM:616331
HP:0009602	Abnormality of thumb phalanx	57122	NUP107	OMIM:616730
HP:0009602	Abnormality of thumb phalanx	57122	NUP107	OMIM:618348
HP:0009602	Abnormality of thumb phalanx	51339	DACT1	ORPHA:857
HP:0009602	Abnormality of thumb phalanx	10992	SF3B2	OMIM:164210
HP:0009602	Abnormality of thumb phalanx	27152	INTU	OMIM:617926
HP:0009602	Abnormality of thumb phalanx	2535	FZD2	OMIM:164745
HP:0009602	Abnormality of thumb phalanx	2535	FZD2	ORPHA:93328
HP:0009602	Abnormality of thumb phalanx	23476	BRD4	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	9126	SMC3	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	8243	SMC1A	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	25836	NIPBL	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	55869	HDAC8	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	5885	RAD21	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	90	ACVR1	OMIM:135100
HP:0009602	Abnormality of thumb phalanx	57020	VPS35L	OMIM:619135
HP:0009602	Abnormality of thumb phalanx	9241	NOG	OMIM:186570
HP:0009602	Abnormality of thumb phalanx	9241	NOG	OMIM:611377
HP:0009602	Abnormality of thumb phalanx	3209	HOXA13	OMIM:140000
HP:0009602	Abnormality of thumb phalanx	3209	HOXA13	ORPHA:2438
HP:0009602	Abnormality of thumb phalanx	10847	SRCAP	OMIM:136140
HP:0009602	Abnormality of thumb phalanx	6662	SOX9	OMIM:114290
HP:0009602	Abnormality of thumb phalanx	5116	PCNT	OMIM:210720
HP:0009602	Abnormality of thumb phalanx	26040	SETBP1	OMIM:269150
HP:0009602	Abnormality of thumb phalanx	26040	SETBP1	ORPHA:798
HP:0009602	Abnormality of thumb phalanx	388015	RTL1	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	8788	DLK1	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	55384	MEG3	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	3911	LAMA5	OMIM:620076
HP:0009602	Abnormality of thumb phalanx	7516	XRCC2	OMIM:617247
HP:0009602	Abnormality of thumb phalanx	9896	FIG4	ORPHA:3472
HP:0009602	Abnormality of thumb phalanx	55697	VAC14	ORPHA:3472
HP:0009602	Abnormality of thumb phalanx	6469	SHH	ORPHA:93321
HP:0009602	Abnormality of thumb phalanx	7204	TRIO	ORPHA:476126
HP:0009602	Abnormality of thumb phalanx	1280	COL2A1	OMIM:271700
HP:0009602	Abnormality of thumb phalanx	22827	PUF60	ORPHA:508498
HP:0009602	Abnormality of thumb phalanx	23394	ADNP	ORPHA:404448
HP:0009602	Abnormality of thumb phalanx	6477	SIAH1	OMIM:619314
HP:0009602	Abnormality of thumb phalanx	10059	DNM1L	OMIM:614388
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:251028
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:251019
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:576283
HP:0009602	Abnormality of thumb phalanx	650	BMP2	ORPHA:261295
HP:0009602	Abnormality of thumb phalanx	3020	H3-3A	OMIM:619720
HP:0009602	Abnormality of thumb phalanx	29998	BICRA	OMIM:619325
HP:0009602	Abnormality of thumb phalanx	3021	H3-3B	OMIM:619721
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	OMIM:113000
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	ORPHA:1507
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	OMIM:268310
HP:0009602	Abnormality of thumb phalanx	8239	USP9X	OMIM:300919
HP:0009602	Abnormality of thumb phalanx	3248	HPGD	ORPHA:217059
HP:0009602	Abnormality of thumb phalanx	176	ACAN	OMIM:612813
HP:0009602	Abnormality of thumb phalanx	176	ACAN	ORPHA:171866
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	OMIM:301026
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	ORPHA:2662
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	ORPHA:373
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	OMIM:312870
HP:0009602	Abnormality of thumb phalanx	51132	RLIM	OMIM:300978
HP:0009602	Abnormality of thumb phalanx	64359	NXN	OMIM:618529
HP:0009602	Abnormality of thumb phalanx	64359	NXN	ORPHA:1507
HP:0009602	Abnormality of thumb phalanx	92579	G6PC3	OMIM:612541
HP:0009602	Abnormality of thumb phalanx	64131	XYLT1	OMIM:615777
HP:0009602	Abnormality of thumb phalanx	64131	XYLT1	ORPHA:370930
HP:0009602	Abnormality of thumb phalanx	29920	PYCR2	ORPHA:481152
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	ORPHA:93258
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	OMIM:166250
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	OMIM:101600
HP:0009602	Abnormality of thumb phalanx	64093	SMOC1	ORPHA:1106
HP:0009602	Abnormality of thumb phalanx	2626	GATA4	ORPHA:251071
HP:0009602	Abnormality of thumb phalanx	8726	EED	OMIM:617561
HP:0009602	Abnormality of thumb phalanx	8726	EED	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	5718	PSMD12	ORPHA:529962
HP:0009602	Abnormality of thumb phalanx	2186	BPTF	ORPHA:529962
HP:0009602	Abnormality of thumb phalanx	4212	MEIS2	OMIM:600987
HP:0009602	Abnormality of thumb phalanx	5728	PTEN	ORPHA:79076
HP:0009602	Abnormality of thumb phalanx	5728	PTEN	ORPHA:109
HP:0009602	Abnormality of thumb phalanx	657	BMPR1A	ORPHA:79076
HP:0009602	Abnormality of thumb phalanx	2254	FGF9	ORPHA:3237
HP:0009602	Abnormality of thumb phalanx	2254	FGF9	OMIM:612961
HP:0009602	Abnormality of thumb phalanx	23126	POGZ	OMIM:616364
HP:0009602	Abnormality of thumb phalanx	51633	OTUD6B	OMIM:617452
HP:0009602	Abnormality of thumb phalanx	51633	OTUD6B	ORPHA:505237
HP:0009602	Abnormality of thumb phalanx	5593	PRKG2	OMIM:619638
HP:0009602	Abnormality of thumb phalanx	79753	SNIP1	OMIM:614501
HP:0009602	Abnormality of thumb phalanx	9968	MED12	OMIM:309520
HP:0009602	Abnormality of thumb phalanx	9968	MED12	OMIM:305450
HP:0009602	Abnormality of thumb phalanx	80036	TRPM3	OMIM:620224
HP:0009602	Abnormality of thumb phalanx	285362	SUMF1	OMIM:272200
HP:0009602	Abnormality of thumb phalanx	285362	SUMF1	ORPHA:585
HP:0009602	Abnormality of thumb phalanx	79759	ZNF668	OMIM:620194
HP:0009602	Abnormality of thumb phalanx	10236	HNRNPR	OMIM:620073
HP:0009602	Abnormality of thumb phalanx	284252	KCTD1	OMIM:181270
HP:0009602	Abnormality of thumb phalanx	1857	DVL3	OMIM:616894
HP:0009602	Abnormality of thumb phalanx	8481	OFD1	OMIM:300209
HP:0009602	Abnormality of thumb phalanx	56098	PCDHGC4	OMIM:619880
HP:0009602	Abnormality of thumb phalanx	2719	GPC3	ORPHA:373
HP:0009602	Abnormality of thumb phalanx	2719	GPC3	OMIM:312870
HP:0009602	Abnormality of thumb phalanx	4123	MAN2C1	OMIM:619775
HP:0009602	Abnormality of thumb phalanx	60529	ALX4	ORPHA:60015
HP:0009602	Abnormality of thumb phalanx	79989	IFT56	OMIM:619534
HP:0009602	Abnormality of thumb phalanx	2146	EZH2	OMIM:277590
HP:0009602	Abnormality of thumb phalanx	2146	EZH2	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	9939	RBM8A	ORPHA:3320
HP:0009602	Abnormality of thumb phalanx	9939	RBM8A	OMIM:274000
HP:0009602	Abnormality of thumb phalanx	7474	WNT5A	OMIM:180700
HP:0009602	Abnormality of thumb phalanx	64324	NSD1	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	23512	SUZ12	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	23404	EXOSC2	OMIM:617763
HP:0009602	Abnormality of thumb phalanx	5587	PRKD1	OMIM:617364
HP:0009602	Abnormality of thumb phalanx	3636	INPPL1	ORPHA:2746
HP:0009602	Abnormality of thumb phalanx	55690	PACS1	ORPHA:329224
HP:0009602	Abnormality of thumb phalanx	22907	DHX30	OMIM:617804
HP:0009602	Abnormality of thumb phalanx	865	CBFB	OMIM:620099
HP:0009603	Deviation of the thumb	1836	SLC26A2	ORPHA:56304
HP:0009603	Deviation of the thumb	1836	SLC26A2	OMIM:256050
HP:0009603	Deviation of the thumb	1836	SLC26A2	OMIM:222600
HP:0009603	Deviation of the thumb	79796	ALG9	ORPHA:79328
HP:0009603	Deviation of the thumb	22858	CILK1	OMIM:612651
HP:0009603	Deviation of the thumb	1954	MEGF8	OMIM:614976
HP:0009603	Deviation of the thumb	2317	FLNB	OMIM:108721
HP:0009603	Deviation of the thumb	23019	CNOT1	OMIM:618500
HP:0009603	Deviation of the thumb	22856	CHSY1	OMIM:605282
HP:0009603	Deviation of the thumb	54928	BPNT2	OMIM:614078
HP:0009603	Deviation of the thumb	2263	FGFR2	ORPHA:93259
HP:0009603	Deviation of the thumb	23476	BRD4	ORPHA:199
HP:0009603	Deviation of the thumb	9126	SMC3	ORPHA:199
HP:0009603	Deviation of the thumb	9126	SMC3	OMIM:610759
HP:0009603	Deviation of the thumb	8243	SMC1A	ORPHA:199
HP:0009603	Deviation of the thumb	8243	SMC1A	OMIM:300590
HP:0009603	Deviation of the thumb	25836	NIPBL	ORPHA:199
HP:0009603	Deviation of the thumb	25836	NIPBL	OMIM:122470
HP:0009603	Deviation of the thumb	55869	HDAC8	ORPHA:199
HP:0009603	Deviation of the thumb	55869	HDAC8	OMIM:300882
HP:0009603	Deviation of the thumb	5885	RAD21	ORPHA:199
HP:0009603	Deviation of the thumb	9361	LONP1	OMIM:600373
HP:0009603	Deviation of the thumb	579	NKX3-2	OMIM:613330
HP:0009603	Deviation of the thumb	145173	B3GLCT	OMIM:261540
HP:0009603	Deviation of the thumb	998	CDC42	ORPHA:487796
HP:0009603	Deviation of the thumb	998	CDC42	OMIM:616737
HP:0009603	Deviation of the thumb	22800	RRAS2	OMIM:618624
HP:0009603	Deviation of the thumb	3209	HOXA13	OMIM:140000
HP:0009603	Deviation of the thumb	3209	HOXA13	ORPHA:2438
HP:0009603	Deviation of the thumb	157570	ESCO2	ORPHA:3103
HP:0009603	Deviation of the thumb	2187	FANCB	OMIM:314390
HP:0009603	Deviation of the thumb	7547	ZIC3	OMIM:314390
HP:0009603	Deviation of the thumb	8314	BAP1	OMIM:619762
HP:0009603	Deviation of the thumb	6472	SHMT2	OMIM:619121
HP:0009603	Deviation of the thumb	29123	ANKRD11	ORPHA:261250
HP:0009603	Deviation of the thumb	1717	DHCR7	ORPHA:818
HP:0009603	Deviation of the thumb	1717	DHCR7	OMIM:270400
HP:0009603	Deviation of the thumb	118924	FRA10AC1	OMIM:620113
HP:0009603	Deviation of the thumb	51651	PTRH2	OMIM:616263
HP:0009603	Deviation of the thumb	51651	PTRH2	ORPHA:456312
HP:0009603	Deviation of the thumb	5889	RAD51C	OMIM:613390
HP:0009603	Deviation of the thumb	652	BMP4	ORPHA:139471
HP:0009603	Deviation of the thumb	55906	ZC4H2	OMIM:314580
HP:0009603	Deviation of the thumb	9241	NOG	OMIM:611377
HP:0009603	Deviation of the thumb	79087	ALG12	ORPHA:79324
HP:0009603	Deviation of the thumb	3756	KCNH1	OMIM:611816
HP:0009603	Deviation of the thumb	2626	GATA4	ORPHA:251071
HP:0009603	Deviation of the thumb	7020	TFAP2A	OMIM:113620
HP:0009603	Deviation of the thumb	25942	SIN3A	ORPHA:94065
HP:0009603	Deviation of the thumb	25942	SIN3A	OMIM:613406
HP:0009603	Deviation of the thumb	9775	EIF4A3	OMIM:268305
HP:0009603	Deviation of the thumb	672	BRCA1	OMIM:617883
HP:0009603	Deviation of the thumb	8626	TP63	ORPHA:1896
HP:0009603	Deviation of the thumb	9419	CRIPT	OMIM:615789
HP:0009603	Deviation of the thumb	4247	MGAT2	OMIM:212066
HP:0009603	Deviation of the thumb	9343	EFTUD2	OMIM:610536
HP:0009603	Deviation of the thumb	58499	ZNF462	OMIM:618619
HP:0009603	Deviation of the thumb	2316	FLNA	ORPHA:90650
HP:0009603	Deviation of the thumb	55027	HEATR3	OMIM:620072
HP:0007099	Chiari type I malformation	2077	ERF	OMIM:600775
HP:0007099	Chiari type I malformation	5977	DPF2	OMIM:618027
HP:0007099	Chiari type I malformation	6608	SMO	OMIM:601707
HP:0007099	Chiari type I malformation	6608	SMO	OMIM:241800
HP:0007099	Chiari type I malformation	63895	PIEZO2	OMIM:114300
HP:0007099	Chiari type I malformation	1788	DNMT3A	OMIM:615879
HP:0007099	Chiari type I malformation	4774	NFIA	OMIM:613735
HP:0007099	Chiari type I malformation	4774	NFIA	ORPHA:401986
HP:0007099	Chiari type I malformation	80036	TRPM3	OMIM:620224
HP:0007099	Chiari type I malformation	3845	KRAS	OMIM:609942
HP:0007099	Chiari type I malformation	10283	CWC27	ORPHA:166035
HP:0007099	Chiari type I malformation	9839	ZEB2	ORPHA:261537
HP:0007099	Chiari type I malformation	9839	ZEB2	ORPHA:261552
HP:0007099	Chiari type I malformation	284058	KANSL1	ORPHA:363965
HP:0007099	Chiari type I malformation	284058	KANSL1	ORPHA:363958
HP:0007099	Chiari type I malformation	4094	MAF	ORPHA:1272
HP:0007099	Chiari type I malformation	4094	MAF	OMIM:601088
HP:0007099	Chiari type I malformation	1436	CSF1R	OMIM:618476
HP:0007099	Chiari type I malformation	4854	NOTCH3	OMIM:130720
HP:0007099	Chiari type I malformation	3020	H3-3A	OMIM:619720
HP:0007099	Chiari type I malformation	8318	CDC45	OMIM:617063
HP:0007099	Chiari type I malformation	5500	PPP1CB	OMIM:617506
HP:0007099	Chiari type I malformation	2033	EP300	ORPHA:353284
HP:0007099	Chiari type I malformation	9772	TMEM94	OMIM:618316
HP:0007099	Chiari type I malformation	29072	SETD2	OMIM:620157
HP:0007099	Chiari type I malformation	29072	SETD2	OMIM:620155
HP:0007099	Chiari type I malformation	23516	SLC39A14	OMIM:144755
HP:0007099	Chiari type I malformation	51085	MLXIPL	OMIM:194050
HP:0007099	Chiari type I malformation	2006	ELN	OMIM:194050
HP:0007099	Chiari type I malformation	11128	POLR3A	ORPHA:3455
HP:0007099	Chiari type I malformation	6497	SKI	OMIM:182212
HP:0007099	Chiari type I malformation	4841	NONO	ORPHA:466791
HP:0007099	Chiari type I malformation	57551	TAOK1	OMIM:619575
HP:0007099	Chiari type I malformation	10274	STAG1	OMIM:617635
HP:0007099	Chiari type I malformation	4791	NFKB2	OMIM:615577
HP:0007099	Chiari type I malformation	22943	DKK1	ORPHA:268882
HP:0007099	Chiari type I malformation	1387	CREBBP	ORPHA:353277
HP:0007099	Chiari type I malformation	79947	DHDDS	OMIM:617836
HP:0007099	Chiari type I malformation	5076	PAX2	OMIM:120330
HP:0007099	Chiari type I malformation	1717	DHCR7	OMIM:270400
HP:0007099	Chiari type I malformation	25970	SH2B1	ORPHA:261197
HP:0007099	Chiari type I malformation	55703	POLR3B	OMIM:619742
HP:0007099	Chiari type I malformation	5888	RAD51	OMIM:617244
HP:0007099	Chiari type I malformation	4858	NOVA2	OMIM:618859
HP:0007099	Chiari type I malformation	161742	SPRED1	ORPHA:137605
HP:0007099	Chiari type I malformation	3265	HRAS	OMIM:218040
HP:0007099	Chiari type I malformation	26040	SETBP1	ORPHA:798
HP:0007099	Chiari type I malformation	2263	FGFR2	OMIM:101200
HP:0002442	Dyscalculia	25978	CHMP2B	OMIM:600795
HP:0002442	Dyscalculia	25978	CHMP2B	ORPHA:275864
HP:0002442	Dyscalculia	2332	FMR1	ORPHA:449291
HP:0002442	Dyscalculia	1540	CYLD	OMIM:619132
HP:0002442	Dyscalculia	6736	SRY	ORPHA:1772
HP:0002442	Dyscalculia	5663	PSEN1	ORPHA:275864
HP:0002442	Dyscalculia	2896	GRN	ORPHA:275864
HP:0002442	Dyscalculia	54664	TMEM106B	ORPHA:275864
HP:0002442	Dyscalculia	8878	SQSTM1	ORPHA:275864
HP:0002442	Dyscalculia	8878	SQSTM1	ORPHA:275872
HP:0002442	Dyscalculia	4137	MAPT	ORPHA:275864
HP:0002442	Dyscalculia	54209	TREM2	ORPHA:275864
HP:0002442	Dyscalculia	7415	VCP	ORPHA:275864
HP:0002442	Dyscalculia	7415	VCP	ORPHA:275872
HP:0002442	Dyscalculia	7415	VCP	ORPHA:52430
HP:0002442	Dyscalculia	11284	PNKP	ORPHA:459033
HP:0002442	Dyscalculia	2521	FUS	ORPHA:275872
HP:0002442	Dyscalculia	23435	TARDBP	ORPHA:275872
HP:0002442	Dyscalculia	29110	TBK1	ORPHA:275872
HP:0002442	Dyscalculia	400916	CHCHD10	ORPHA:275872
HP:0002442	Dyscalculia	203228	C9orf72	OMIM:105550
HP:0002442	Dyscalculia	773	CACNA1A	OMIM:141500
HP:0002442	Dyscalculia	4131	MAP1B	OMIM:618918
HP:0002442	Dyscalculia	3178	HNRNPA1	ORPHA:52430
HP:0002442	Dyscalculia	3181	HNRNPA2B1	ORPHA:52430
HP:0002442	Dyscalculia	64324	NSD1	ORPHA:821
HP:0002442	Dyscalculia	29072	SETD2	ORPHA:821
HP:0002442	Dyscalculia	10297	APC2	ORPHA:821
HP:0002444	Hypothalamic hamartoma	2737	GLI3	ORPHA:672
HP:0002444	Hypothalamic hamartoma	2737	GLI3	OMIM:146510
HP:0002444	Hypothalamic hamartoma	8481	OFD1	OMIM:311200
HP:0002444	Hypothalamic hamartoma	8481	OFD1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	6608	SMO	OMIM:241800
HP:0002444	Hypothalamic hamartoma	64601	VPS16	OMIM:619291
HP:0002444	Hypothalamic hamartoma	4990	SIX6	OMIM:206900
HP:0002444	Hypothalamic hamartoma	6657	SOX2	OMIM:206900
HP:0002444	Hypothalamic hamartoma	4123	MAN2C1	OMIM:619775
HP:0002444	Hypothalamic hamartoma	65250	CPLANE1	OMIM:277170
HP:0002444	Hypothalamic hamartoma	65250	CPLANE1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	7074	TIAM1	OMIM:619908
HP:0002444	Hypothalamic hamartoma	10210	TOPORS	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	9851	KIAA0753	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	26123	TCTN3	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	5147	PDE6D	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	51259	TMEM216	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	317662	FAM149B1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	374654	KIF7	ORPHA:2754
HP:0002445	Tetraplegia	6904	TBCD	ORPHA:496641
HP:0002445	Tetraplegia	4702	NDUFA8	OMIM:619272
HP:0002445	Tetraplegia	10134	BCAP31	OMIM:300475
HP:0002445	Tetraplegia	10134	BCAP31	ORPHA:369939
HP:0002445	Tetraplegia	5832	ALDH18A1	OMIM:616586
HP:0002445	Tetraplegia	5832	ALDH18A1	ORPHA:447760
HP:0002445	Tetraplegia	11284	PNKP	OMIM:616267
HP:0002445	Tetraplegia	57679	ALS2	ORPHA:293168
HP:0002445	Tetraplegia	57679	ALS2	OMIM:607225
HP:0002445	Tetraplegia	5631	PRPS1	ORPHA:1187
HP:0002445	Tetraplegia	5631	PRPS1	OMIM:301835
HP:0002445	Tetraplegia	2260	FGFR1	ORPHA:2396
HP:0002445	Tetraplegia	3845	KRAS	ORPHA:2396
HP:0002445	Tetraplegia	5048	PAFAH1B1	ORPHA:95232
HP:0002445	Tetraplegia	22845	DOLK	OMIM:610768
HP:0002445	Tetraplegia	100134444	KCNJ18	ORPHA:79102
HP:0002445	Tetraplegia	2556	GABRA3	ORPHA:79102
HP:0002445	Tetraplegia	779	CACNA1S	ORPHA:79102
HP:0002445	Tetraplegia	701	BUB1B	OMIM:257300
HP:0002445	Tetraplegia	5903	RANBP2	OMIM:608033
HP:0002445	Tetraplegia	5551	PRF1	OMIM:603553
HP:0002445	Tetraplegia	56246	MRAP	ORPHA:361
HP:0002445	Tetraplegia	6770	STAR	ORPHA:361
HP:0002445	Tetraplegia	4158	MC2R	ORPHA:361
HP:0002445	Tetraplegia	23530	NNT	ORPHA:361
HP:0002445	Tetraplegia	10587	TXNRD2	ORPHA:361
HP:0002445	Tetraplegia	2581	GALC	ORPHA:206443
HP:0002445	Tetraplegia	54828	BCAS3	OMIM:619641
HP:0002445	Tetraplegia	374354	NHLRC2	OMIM:618278
HP:0002445	Tetraplegia	170302	ARX	OMIM:300004
HP:0002445	Tetraplegia	170302	ARX	ORPHA:2508
HP:0002445	Tetraplegia	133686	NADK2	OMIM:616034
HP:0002445	Tetraplegia	51693	TRAPPC2L	OMIM:618331
HP:0002445	Tetraplegia	1806	DPYD	OMIM:274270
HP:0002445	Tetraplegia	9131	AIFM1	OMIM:300816
HP:0002445	Tetraplegia	64135	IFIH1	OMIM:615846
HP:0002445	Tetraplegia	10342	TFG	OMIM:604484
HP:0002445	Tetraplegia	57582	KCNT1	OMIM:614959
HP:0002445	Tetraplegia	410	ARSA	OMIM:250100
HP:0002445	Tetraplegia	478	ATP1A3	OMIM:614820
HP:0002445	Tetraplegia	477	ATP1A2	OMIM:104290
HP:0002446	Astrocytosis	5621	PRNP	ORPHA:282166
HP:0002446	Astrocytosis	25978	CHMP2B	OMIM:600795
HP:0002446	Astrocytosis	25978	CHMP2B	ORPHA:275864
HP:0002446	Astrocytosis	25978	CHMP2B	ORPHA:100070
HP:0002446	Astrocytosis	4137	MAPT	OMIM:601104
HP:0002446	Astrocytosis	4137	MAPT	ORPHA:275864
HP:0002446	Astrocytosis	4137	MAPT	ORPHA:100070
HP:0002446	Astrocytosis	4508	MT-ATP6	ORPHA:225154
HP:0002446	Astrocytosis	23636	NUP62	ORPHA:225154
HP:0002446	Astrocytosis	103	ADAR	ORPHA:225154
HP:0002446	Astrocytosis	55532	SLC30A10	ORPHA:309854
HP:0002446	Astrocytosis	92335	STRADA	OMIM:611087
HP:0002446	Astrocytosis	1161	ERCC8	ORPHA:90324
HP:0002446	Astrocytosis	2074	ERCC6	ORPHA:90324
HP:0002446	Astrocytosis	5663	PSEN1	ORPHA:275864
HP:0002446	Astrocytosis	5663	PSEN1	ORPHA:100070
HP:0002446	Astrocytosis	2896	GRN	ORPHA:275864
HP:0002446	Astrocytosis	2896	GRN	ORPHA:100070
HP:0002446	Astrocytosis	54664	TMEM106B	ORPHA:275864
HP:0002446	Astrocytosis	54664	TMEM106B	ORPHA:100070
HP:0002446	Astrocytosis	8878	SQSTM1	ORPHA:275864
HP:0002446	Astrocytosis	54209	TREM2	ORPHA:275864
HP:0002446	Astrocytosis	54209	TREM2	ORPHA:100070
HP:0002446	Astrocytosis	7415	VCP	ORPHA:275864
HP:0002446	Astrocytosis	7415	VCP	ORPHA:100070
HP:0002446	Astrocytosis	5428	POLG	OMIM:203700
HP:0002446	Astrocytosis	3908	LAMA2	ORPHA:258
HP:0002446	Astrocytosis	7248	TSC1	OMIM:607341
HP:0002446	Astrocytosis	7249	TSC2	OMIM:607341
HP:0002446	Astrocytosis	2475	MTOR	OMIM:607341
HP:0002448	Progressive encephalopathy	5654	HTRA1	OMIM:600142
HP:0002448	Progressive encephalopathy	133686	NADK2	ORPHA:431361
HP:0002448	Progressive encephalopathy	26580	BSCL2	ORPHA:363400
HP:0002448	Progressive encephalopathy	11152	WDR45	ORPHA:329284
HP:0002448	Progressive encephalopathy	11277	TREX1	OMIM:225750
HP:0002448	Progressive encephalopathy	9256	TSPOAP1	ORPHA:101150
HP:0002448	Progressive encephalopathy	7054	TH	ORPHA:101150
HP:0002448	Progressive encephalopathy	8942	KYNU	ORPHA:79155
HP:0002448	Progressive encephalopathy	132158	GLYCTK	ORPHA:941
HP:0002448	Progressive encephalopathy	8803	SUCLA2	OMIM:612073
HP:0002448	Progressive encephalopathy	6905	TBCE	ORPHA:496756
HP:0008947	Infantile muscular hypotonia	388015	RTL1	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	8788	DLK1	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	55384	MEG3	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	11253	MAN1B1	ORPHA:397941
HP:0008947	Infantile muscular hypotonia	23394	ADNP	ORPHA:404448
HP:0008947	Infantile muscular hypotonia	91574	MTRFR	ORPHA:254930
HP:0008947	Infantile muscular hypotonia	10466	COG5	ORPHA:263487
HP:0008947	Infantile muscular hypotonia	8367	H4C5	OMIM:619950
HP:0008947	Infantile muscular hypotonia	6477	SIAH1	OMIM:619314
HP:0008947	Infantile muscular hypotonia	7355	SLC35A2	ORPHA:356961
HP:0008947	Infantile muscular hypotonia	1788	DNMT3A	ORPHA:404443
HP:0008947	Infantile muscular hypotonia	22845	DOLK	ORPHA:91131
HP:0008947	Infantile muscular hypotonia	546	ATRX	OMIM:301040
HP:0008947	Infantile muscular hypotonia	546	ATRX	OMIM:309580
HP:0008947	Infantile muscular hypotonia	132158	GLYCTK	ORPHA:941
HP:0008947	Infantile muscular hypotonia	4758	NEU1	ORPHA:93399
HP:0008947	Infantile muscular hypotonia	23126	POGZ	ORPHA:468678
HP:0008947	Infantile muscular hypotonia	1605	DAG1	ORPHA:370997
HP:0008947	Infantile muscular hypotonia	4535	MT-ND1	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4536	MT-ND2	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4537	MT-ND3	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4538	MT-ND4	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4567	MT-TL1	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4578	MT-TW	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4577	MT-TV	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4508	MT-ATP6	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4508	MT-ATP6	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	4540	MT-ND5	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4541	MT-ND6	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4566	MT-TK	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	10743	RAI1	ORPHA:477817
HP:0008947	Infantile muscular hypotonia	3481	IGF2	ORPHA:231144
HP:0008947	Infantile muscular hypotonia	283120	H19	ORPHA:231144
HP:0008947	Infantile muscular hypotonia	113179	ADAT3	ORPHA:363528
HP:0008947	Infantile muscular hypotonia	2782	GNB1	ORPHA:488613
HP:0008947	Infantile muscular hypotonia	10157	AASS	ORPHA:2203
HP:0008947	Infantile muscular hypotonia	6492	SIM1	ORPHA:398079
HP:0008947	Infantile muscular hypotonia	112939	NACC1	ORPHA:500545
HP:0008947	Infantile muscular hypotonia	1363	CPE	OMIM:619326
HP:0008947	Infantile muscular hypotonia	55780	ERMARD	ORPHA:75857
HP:0008947	Infantile muscular hypotonia	2720	GLB1	ORPHA:79255
HP:0008947	Infantile muscular hypotonia	4204	MECP2	ORPHA:778
HP:0008947	Infantile muscular hypotonia	4204	MECP2	OMIM:300260
HP:0008947	Infantile muscular hypotonia	6904	TBCD	ORPHA:496641
HP:0008947	Infantile muscular hypotonia	29925	GMPPB	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	79147	FKRP	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	29954	POMT2	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	9215	LARGE1	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	10585	POMT1	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:98794
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:98795
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:411511
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	4948	OCA2	ORPHA:98794
HP:0008947	Infantile muscular hypotonia	427	ASAH1	ORPHA:333
HP:0008947	Infantile muscular hypotonia	56992	KIF15	ORPHA:261323
HP:0008947	Infantile muscular hypotonia	84992	PIGY	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	84720	PIGO	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	93210	PGAP3	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	284098	PIGW	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	27315	PGAP2	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	55650	PIGV	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	9487	PIGL	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	347733	TUBB2B	ORPHA:300573
HP:0008947	Infantile muscular hypotonia	1757	SARDH	ORPHA:3129
HP:0008947	Infantile muscular hypotonia	6597	SMARCA4	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6598	SMARCB1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6659	SOX4	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	8289	ARID1A	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	5977	DPF2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6601	SMARCC2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6602	SMARCD1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	57492	ARID1B	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	196528	ARID2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6605	SMARCE1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6664	SOX11	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	23545	ATP6V0A2	ORPHA:2834
HP:0008947	Infantile muscular hypotonia	23545	ATP6V0A2	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	54551	MAGEL2	ORPHA:398069
HP:0008947	Infantile muscular hypotonia	1183	CLCN4	ORPHA:485350
HP:0008947	Infantile muscular hypotonia	7080	NKX2-1	ORPHA:209905
HP:0008947	Infantile muscular hypotonia	3767	KCNJ11	ORPHA:79644
HP:0008947	Infantile muscular hypotonia	6821	SUOX	OMIM:272300
HP:0008947	Infantile muscular hypotonia	8802	SUCLG1	OMIM:245400
HP:0008947	Infantile muscular hypotonia	8802	SUCLG1	ORPHA:17
HP:0008947	Infantile muscular hypotonia	2261	FGFR3	ORPHA:15
HP:0008947	Infantile muscular hypotonia	2261	FGFR3	OMIM:100800
HP:0008947	Infantile muscular hypotonia	191	AHCY	ORPHA:88618
HP:0008947	Infantile muscular hypotonia	9839	ZEB2	ORPHA:261552
HP:0008947	Infantile muscular hypotonia	9839	ZEB2	ORPHA:261537
HP:0008947	Infantile muscular hypotonia	84342	COG8	OMIM:611182
HP:0008947	Infantile muscular hypotonia	84342	COG8	ORPHA:95428
HP:0008947	Infantile muscular hypotonia	2903	GRIN2A	ORPHA:289266
HP:0008947	Infantile muscular hypotonia	4041	LRP5	ORPHA:2788
HP:0008947	Infantile muscular hypotonia	10352	WARS2	ORPHA:572798
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2260	FGFR1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2260	FGFR1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	23007	PLCH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	10735	STAG2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	10735	STAG2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	526	ATP6V1B2	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	526	ATP6V1B2	ORPHA:79500
HP:0008947	Infantile muscular hypotonia	3756	KCNH1	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	3782	KCNN3	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	54496	PRMT7	ORPHA:464288
HP:0008947	Infantile muscular hypotonia	54658	UGT1A1	ORPHA:79234
HP:0008947	Infantile muscular hypotonia	1798	DPAGT1	ORPHA:86309
HP:0008947	Infantile muscular hypotonia	9056	SLC7A7	ORPHA:470
HP:0008947	Infantile muscular hypotonia	6611	SMS	ORPHA:3063
HP:0008947	Infantile muscular hypotonia	253738	EBF3	OMIM:617330
HP:0008947	Infantile muscular hypotonia	998	CDC42	ORPHA:487796
HP:0008947	Infantile muscular hypotonia	8239	USP9X	ORPHA:480880
HP:0008947	Infantile muscular hypotonia	9894	TELO2	ORPHA:488642
HP:0008947	Infantile muscular hypotonia	259232	NALCN	ORPHA:371364
HP:0008947	Infantile muscular hypotonia	285175	UNC80	ORPHA:371364
HP:0008947	Infantile muscular hypotonia	9091	PIGQ	OMIM:618548
HP:0008947	Infantile muscular hypotonia	9091	PIGQ	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	9289	ADGRG1	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	5297	PI4KA	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	27286	SRPX2	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	6134	RPL10	ORPHA:459070
HP:0008947	Infantile muscular hypotonia	6335	SCN9A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6326	SCN2A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6326	SCN2A	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2554	GABRA1	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6323	SCN1A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6324	SCN1B	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6324	SCN1B	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	57526	PCDH19	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	2566	GABRG2	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	57465	TBC1D24	ORPHA:79500
HP:0008947	Infantile muscular hypotonia	25915	NDUFAF3	ORPHA:70474
HP:0008947	Infantile muscular hypotonia	4714	NDUFB8	ORPHA:70474
HP:0008947	Infantile muscular hypotonia	4720	NDUFS2	ORPHA:70474
HP:0008947	Infantile muscular hypotonia	9997	SCO2	ORPHA:70474
HP:0008947	Infantile muscular hypotonia	6834	SURF1	ORPHA:70474
HP:0008947	Infantile muscular hypotonia	7343	UBTF	ORPHA:500180
HP:0008947	Infantile muscular hypotonia	57459	GATAD2B	ORPHA:363686
HP:0008947	Infantile muscular hypotonia	4094	MAF	ORPHA:1272
HP:0008947	Infantile muscular hypotonia	6857	SYT1	ORPHA:522077
HP:0008947	Infantile muscular hypotonia	440138	ALG11	ORPHA:280071
HP:0008947	Infantile muscular hypotonia	2548	GAA	ORPHA:308552
HP:0008947	Infantile muscular hypotonia	1289	COL5A1	OMIM:130000
HP:0008947	Infantile muscular hypotonia	1806	DPYD	ORPHA:1675
HP:0008947	Infantile muscular hypotonia	79633	FAT4	ORPHA:314679
HP:0008947	Infantile muscular hypotonia	8642	DCHS1	ORPHA:314679
HP:0008947	Infantile muscular hypotonia	7841	MOGS	ORPHA:79330
HP:0008947	Infantile muscular hypotonia	2683	B4GALT1	ORPHA:79332
HP:0008947	Infantile muscular hypotonia	10522	DEAF1	ORPHA:468620
HP:0008947	Infantile muscular hypotonia	2593	GAMT	OMIM:612736
HP:0008947	Infantile muscular hypotonia	84628	NTNG2	OMIM:618718
HP:0008947	Infantile muscular hypotonia	23314	SATB2	ORPHA:576283
HP:0008947	Infantile muscular hypotonia	23636	NUP62	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	103	ADAR	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	57107	PDSS2	ORPHA:255249
HP:0008947	Infantile muscular hypotonia	27235	COQ2	ORPHA:255249
HP:0008947	Infantile muscular hypotonia	523	ATP6V1A	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	529	ATP6V1E1	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	6651	SON	ORPHA:500150
HP:0008947	Infantile muscular hypotonia	8218	CLTCL1	ORPHA:453510
HP:0008947	Infantile muscular hypotonia	650	BMP2	OMIM:617877
HP:0008947	Infantile muscular hypotonia	8243	SMC1A	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	5194	PEX13	OMIM:614883
HP:0008947	Infantile muscular hypotonia	7317	UBA1	ORPHA:1145
HP:0008947	Infantile muscular hypotonia	5879	RAC1	ORPHA:500159
HP:0008947	Infantile muscular hypotonia	162417	NAGS	ORPHA:927
HP:0008947	Infantile muscular hypotonia	83737	ITCH	ORPHA:228426
HP:0008947	Infantile muscular hypotonia	8813	DPM1	ORPHA:79322
HP:0008947	Infantile muscular hypotonia	4750	NEK1	ORPHA:2751
HP:0008947	Infantile muscular hypotonia	9526	MPDU1	ORPHA:79323
HP:0008947	Infantile muscular hypotonia	37	ACADVL	ORPHA:26793
HP:0008947	Infantile muscular hypotonia	79644	SRD5A3	ORPHA:324737
HP:0008947	Infantile muscular hypotonia	60684	TRAPPC11	ORPHA:369840
HP:0008947	Infantile muscular hypotonia	60684	TRAPPC11	ORPHA:369847
HP:0008947	Infantile muscular hypotonia	80704	SLC19A3	ORPHA:263410
HP:0008947	Infantile muscular hypotonia	9968	MED12	ORPHA:293707
HP:0008947	Infantile muscular hypotonia	55280	CWF19L1	ORPHA:453521
HP:0008947	Infantile muscular hypotonia	35	ACADS	ORPHA:26792
HP:0008947	Infantile muscular hypotonia	55690	PACS1	ORPHA:329224
HP:0008947	Infantile muscular hypotonia	7227	TRPS1	OMIM:190350
HP:0008947	Infantile muscular hypotonia	6638	SNRPN	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	57194	ATP10A	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	6792	CDKL5	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	3736	KCNA1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2775	GNAO1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	81603	TRIM8	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2902	GRIN1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	79751	SLC25A22	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	150094	SIK1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	8573	CASK	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	23312	DMXL2	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2917	GRM7	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	170302	ARX	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	11284	PNKP	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	51227	PIGP	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	4761	NEUROD2	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	84705	GTPBP3	ORPHA:444013
HP:0008947	Infantile muscular hypotonia	80816	ASXL3	ORPHA:352577
HP:0008947	Infantile muscular hypotonia	2137	EXTL3	ORPHA:508533
HP:0008947	Infantile muscular hypotonia	84340	GFM2	ORPHA:565624
HP:0008947	Infantile muscular hypotonia	3074	HEXB	ORPHA:309155
HP:0008947	Infantile muscular hypotonia	815	CAMK2A	OMIM:617798
HP:0008947	Infantile muscular hypotonia	10381	TUBB3	ORPHA:300570
HP:0008947	Infantile muscular hypotonia	2581	GALC	ORPHA:206436
HP:0008947	Infantile muscular hypotonia	5660	PSAP	ORPHA:206436
HP:0008947	Infantile muscular hypotonia	2671	GFER	ORPHA:330054
HP:0008947	Infantile muscular hypotonia	25914	RTTN	ORPHA:468631
HP:0008947	Infantile muscular hypotonia	4125	MAN2B1	ORPHA:309282
HP:0008947	Infantile muscular hypotonia	29968	PSAT1	ORPHA:284417
HP:0008947	Infantile muscular hypotonia	6261	RYR1	ORPHA:424107
HP:0008947	Infantile muscular hypotonia	2760	GM2A	ORPHA:309246
HP:0008947	Infantile muscular hypotonia	5917	RARS1	ORPHA:438114
HP:0008947	Infantile muscular hypotonia	283989	TSEN54	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	116461	TSEN15	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	79042	TSEN34	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	80746	TSEN2	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	51091	SEPSECS	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	56947	MFF	ORPHA:485421
HP:0008947	Infantile muscular hypotonia	58497	PRUNE1	ORPHA:544469
HP:0008947	Infantile muscular hypotonia	5081	PAX7	OMIM:618578
HP:0008947	Infantile muscular hypotonia	23516	SLC39A14	ORPHA:521406
HP:0008947	Infantile muscular hypotonia	267010	RNU12	ORPHA:512260
HP:0012662	Parietal hypometabolism in FDG PET	348	APOE	OMIM:606889
HP:0012662	Parietal hypometabolism in FDG PET	5664	PSEN2	OMIM:606889
HP:0012664	Reduced left ventricular ejection fraction	7156	TOP3A	OMIM:618098
HP:0012664	Reduced left ventricular ejection fraction	291	SLC25A4	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	5428	POLG	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	56652	TWNK	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	11232	POLG2	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	50484	RRM2B	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	79717	PPCS	OMIM:618189
HP:0012664	Reduced left ventricular ejection fraction	37	ACADVL	OMIM:201475
HP:0012664	Reduced left ventricular ejection fraction	4607	MYBPC3	OMIM:115197
HP:0012664	Reduced left ventricular ejection fraction	4624	MYH6	OMIM:613252
HP:0012664	Reduced left ventricular ejection fraction	5664	PSEN2	OMIM:613697
HP:0012664	Reduced left ventricular ejection fraction	4878	NPPA	OMIM:612201
HP:0012664	Reduced left ventricular ejection fraction	4878	NPPA	ORPHA:1344
HP:0012664	Reduced left ventricular ejection fraction	3910	LAMA4	OMIM:615235
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:115195
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:601494
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:612422
HP:0012664	Reduced left ventricular ejection fraction	5894	RAF1	OMIM:615916
HP:0012664	Reduced left ventricular ejection fraction	8048	CSRP3	OMIM:607482
HP:0012664	Reduced left ventricular ejection fraction	4000	LMNA	OMIM:181350
HP:0012664	Reduced left ventricular ejection fraction	8291	DYSF	ORPHA:268
HP:0012664	Reduced left ventricular ejection fraction	1674	DES	OMIM:604765
HP:0012664	Reduced left ventricular ejection fraction	80206	FHOD3	OMIM:619402
HP:0012664	Reduced left ventricular ejection fraction	368	ABCC6	OMIM:614473
HP:0012664	Reduced left ventricular ejection fraction	57798	GATAD1	OMIM:614672
HP:0012664	Reduced left ventricular ejection fraction	7276	TTR	ORPHA:85451
HP:0012664	Reduced left ventricular ejection fraction	4625	MYH7	OMIM:613426
HP:0012664	Reduced left ventricular ejection fraction	3908	LAMA2	ORPHA:258
HP:0012664	Reduced left ventricular ejection fraction	7414	VCL	OMIM:611407
HP:0012664	Reduced left ventricular ejection fraction	58528	RRAGD	OMIM:620152
HP:0012664	Reduced left ventricular ejection fraction	6123	RPL3L	OMIM:619371
HP:0012664	Reduced left ventricular ejection fraction	388753	COA6	OMIM:616501
HP:0012664	Reduced left ventricular ejection fraction	2702	GJA5	OMIM:614049
HP:0012664	Reduced left ventricular ejection fraction	6331	SCN5A	ORPHA:1344
HP:0012664	Reduced left ventricular ejection fraction	6331	SCN5A	OMIM:601154
HP:0012664	Reduced left ventricular ejection fraction	439	GET3	OMIM:620203
HP:0012664	Reduced left ventricular ejection fraction	7716	VEZF1	OMIM:620247
HP:0012664	Reduced left ventricular ejection fraction	91624	NEXN	OMIM:613876
HP:0012664	Reduced left ventricular ejection fraction	91624	NEXN	OMIM:613122
HP:0012664	Reduced left ventricular ejection fraction	2218	FKTN	OMIM:611615
HP:0012664	Reduced left ventricular ejection fraction	4634	MYL3	OMIM:608751
HP:0012664	Reduced left ventricular ejection fraction	51778	MYOZ2	OMIM:613838
HP:0012664	Reduced left ventricular ejection fraction	57505	AARS2	OMIM:614096
HP:0012664	Reduced left ventricular ejection fraction	3762	KCNJ5	OMIM:613485
HP:0012664	Reduced left ventricular ejection fraction	7134	TNNC1	OMIM:613243
HP:0012664	Reduced left ventricular ejection fraction	6389	SDHA	OMIM:613642
HP:0012664	Reduced left ventricular ejection fraction	7273	TTN	OMIM:604145
HP:0012664	Reduced left ventricular ejection fraction	6444	SGCD	OMIM:606685
HP:0012664	Reduced left ventricular ejection fraction	567	B2M	ORPHA:314652
HP:0012664	Reduced left ventricular ejection fraction	1410	CRYAB	OMIM:615184
HP:0012664	Reduced left ventricular ejection fraction	5663	PSEN1	OMIM:613694
HP:0012664	Reduced left ventricular ejection fraction	9529	BAG5	OMIM:619747
HP:0012664	Reduced left ventricular ejection fraction	1829	DSG2	OMIM:612877
HP:0012664	Reduced left ventricular ejection fraction	3920	LAMP2	OMIM:300257
HP:0012664	Reduced left ventricular ejection fraction	442721	LMOD2	OMIM:619897
HP:0012664	Reduced left ventricular ejection fraction	84705	GTPBP3	ORPHA:444013
HP:0012664	Reduced left ventricular ejection fraction	7137	TNNI3	OMIM:613286
HP:0012665	Moderately reduced left ventricular ejection fraction	1410	CRYAB	OMIM:615184
HP:0012666	Severely reduced left ventricular ejection fraction	5663	PSEN1	OMIM:613694
HP:0012666	Severely reduced left ventricular ejection fraction	9529	BAG5	OMIM:619747
HP:0012666	Severely reduced left ventricular ejection fraction	1829	DSG2	OMIM:612877
HP:0012666	Severely reduced left ventricular ejection fraction	3920	LAMP2	OMIM:300257
HP:0012666	Severely reduced left ventricular ejection fraction	442721	LMOD2	OMIM:619897
HP:0012666	Severely reduced left ventricular ejection fraction	4624	MYH6	OMIM:613251
HP:0012666	Severely reduced left ventricular ejection fraction	7273	TTN	OMIM:611705
HP:0012666	Severely reduced left ventricular ejection fraction	84705	GTPBP3	ORPHA:444013
HP:0012666	Severely reduced left ventricular ejection fraction	7137	TNNI3	OMIM:613286
HP:0012663	Mildly reduced left ventricular ejection fraction	7156	TOP3A	OMIM:618098
HP:0001841	Preaxial foot polydactyly	26160	IFT172	OMIM:619471
HP:0001841	Preaxial foot polydactyly	65250	CPLANE1	OMIM:277170
HP:0001841	Preaxial foot polydactyly	6608	SMO	OMIM:601707
HP:0001841	Preaxial foot polydactyly	374654	KIF7	OMIM:614120
HP:0001841	Preaxial foot polydactyly	374654	KIF7	OMIM:200990
HP:0001841	Preaxial foot polydactyly	2737	GLI3	OMIM:175700
HP:0001841	Preaxial foot polydactyly	2737	GLI3	ORPHA:380
HP:0001841	Preaxial foot polydactyly	2737	GLI3	OMIM:174200
HP:0001841	Preaxial foot polydactyly	64327	LMBR1	ORPHA:2378
HP:0001841	Preaxial foot polydactyly	64327	LMBR1	OMIM:174500
HP:0001841	Preaxial foot polydactyly	2263	FGFR2	ORPHA:1540
HP:0001841	Preaxial foot polydactyly	57688	ZSWIM6	ORPHA:1827
HP:0001841	Preaxial foot polydactyly	57688	ZSWIM6	OMIM:603671
HP:0001841	Preaxial foot polydactyly	3239	HOXD13	OMIM:186000
HP:0001841	Preaxial foot polydactyly	5307	PITX1	OMIM:119800
HP:0001841	Preaxial foot polydactyly	51715	RAB23	OMIM:201000
HP:0001841	Preaxial foot polydactyly	51715	RAB23	ORPHA:65759
HP:0001841	Preaxial foot polydactyly	1954	MEGF8	ORPHA:65759
HP:0001841	Preaxial foot polydactyly	53834	FGFRL1	OMIM:194190
HP:0001841	Preaxial foot polydactyly	1487	CTBP1	OMIM:194190
HP:0001841	Preaxial foot polydactyly	3954	LETM1	OMIM:194190
HP:0001841	Preaxial foot polydactyly	7468	NSD2	OMIM:194190
HP:0001841	Preaxial foot polydactyly	10815	CPLX1	OMIM:194190
HP:0001841	Preaxial foot polydactyly	4750	NEK1	ORPHA:2751
HP:0001841	Preaxial foot polydactyly	4750	NEK1	OMIM:263520
HP:0009606	Complete duplication of distal phalanx of the thumb	64327	LMBR1	OMIM:174500
HP:0009606	Complete duplication of distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009606	Complete duplication of distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0009609	Duplication of the 1st metacarpal	100151683	RNU4ATAC	OMIM:210710
HP:0009608	Complete duplication of proximal phalanx of the thumb	51715	RAB23	OMIM:201000
HP:0009608	Complete duplication of proximal phalanx of the thumb	22856	CHSY1	ORPHA:363417
HP:0009612	Duplication of the distal phalanx of the thumb	64327	LMBR1	OMIM:174500
HP:0009612	Duplication of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009612	Duplication of the distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0009612	Duplication of the distal phalanx of the thumb	55012	PPP2R3C	OMIM:618419
HP:0009612	Duplication of the distal phalanx of the thumb	374654	KIF7	OMIM:200990
HP:0009612	Duplication of the distal phalanx of the thumb	5053	PAH	ORPHA:2209
HP:0009612	Duplication of the distal phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009613	Duplication of the proximal phalanx of the thumb	51715	RAB23	OMIM:201000
HP:0009613	Duplication of the proximal phalanx of the thumb	22856	CHSY1	ORPHA:363417
HP:0002450	Abnormal motor neuron morphology	10908	PNPLA6	OMIM:215470
HP:0002450	Abnormal motor neuron morphology	2632	GBE1	OMIM:263570
HP:0002450	Abnormal motor neuron morphology	11160	ERLIN2	ORPHA:247604
HP:0002450	Abnormal motor neuron morphology	7305	TYROBP	OMIM:221770
HP:0002450	Abnormal motor neuron morphology	5832	ALDH18A1	OMIM:601162
HP:0002450	Abnormal motor neuron morphology	23064	SETX	OMIM:602433
HP:0002450	Abnormal motor neuron morphology	427	ASAH1	ORPHA:2590
HP:0002450	Abnormal motor neuron morphology	6687	SPG7	ORPHA:35689
HP:0002450	Abnormal motor neuron morphology	83636	C19orf12	OMIM:614298
HP:0002450	Abnormal motor neuron morphology	57679	ALS2	OMIM:205100
HP:0002450	Abnormal motor neuron morphology	57679	ALS2	OMIM:607225
HP:0002450	Abnormal motor neuron morphology	9782	MATR3	OMIM:606070
HP:0002450	Abnormal motor neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0002450	Abnormal motor neuron morphology	29110	TBK1	OMIM:616439
HP:0002450	Abnormal motor neuron morphology	29110	TBK1	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	7415	VCP	OMIM:613954
HP:0002450	Abnormal motor neuron morphology	7415	VCP	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	7415	VCP	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	8878	SQSTM1	OMIM:616437
HP:0002450	Abnormal motor neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	1639	DCTN1	OMIM:607641
HP:0002450	Abnormal motor neuron morphology	4287	ATXN3	ORPHA:276244
HP:0002450	Abnormal motor neuron morphology	54822	TRPM7	OMIM:105500
HP:0002450	Abnormal motor neuron morphology	2521	FUS	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	23435	TARDBP	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	80208	SPG11	OMIM:602099
HP:0002450	Abnormal motor neuron morphology	203228	C9orf72	OMIM:105550
HP:0002450	Abnormal motor neuron morphology	55187	VPS13D	ORPHA:95434
HP:0002450	Abnormal motor neuron morphology	27072	VPS41	ORPHA:95434
HP:0002450	Abnormal motor neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	5663	PSEN1	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	2896	GRN	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	4137	MAPT	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	54209	TREM2	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	65250	CPLANE1	ORPHA:65684
HP:0002450	Abnormal motor neuron morphology	57562	CEP126	ORPHA:65684
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:253550
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:271150
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:253400
HP:0002450	Abnormal motor neuron morphology	11340	EXOSC8	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	5393	EXOSC9	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	23287	AGTPBP1	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	51010	EXOSC3	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	7443	VRK1	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	7443	VRK1	OMIM:607596
HP:0002450	Abnormal motor neuron morphology	91137	SLC25A46	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	10342	TFG	OMIM:604484
HP:0002450	Abnormal motor neuron morphology	6647	SOD1	OMIM:105400
HP:0002450	Abnormal motor neuron morphology	5630	PRPH	OMIM:105400
HP:0002450	Abnormal motor neuron morphology	4744	NEFH	OMIM:105400
HP:0002450	Abnormal motor neuron morphology	311	ANXA11	OMIM:617839
HP:0002450	Abnormal motor neuron morphology	3508	IGHMBP2	OMIM:604320
HP:0002450	Abnormal motor neuron morphology	6607	SMN2	OMIM:253400
HP:0002450	Abnormal motor neuron morphology	3178	HNRNPA1	ORPHA:52430
HP:0002450	Abnormal motor neuron morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0002450	Abnormal motor neuron morphology	2733	GLE1	OMIM:611890
HP:0002450	Abnormal motor neuron morphology	7317	UBA1	ORPHA:1145
HP:0002450	Abnormal motor neuron morphology	1540	CYLD	OMIM:619132
HP:0002450	Abnormal motor neuron morphology	7072	TIA1	OMIM:619133
HP:0002450	Abnormal motor neuron morphology	7277	TUBA4A	OMIM:616208
HP:0002450	Abnormal motor neuron morphology	10280	SIGMAR1	ORPHA:300605
HP:0002450	Abnormal motor neuron morphology	10280	SIGMAR1	OMIM:614373
HP:0002450	Abnormal motor neuron morphology	10558	SPTLC1	ORPHA:300605
HP:0002450	Abnormal motor neuron morphology	3798	KIF5A	OMIM:617921
HP:0002450	Abnormal motor neuron morphology	55131	RBM28	ORPHA:157954
HP:0002450	Abnormal motor neuron morphology	8148	TAF15	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5445	PON2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	9217	VAPB	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	55830	GLT8D1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	755	CFAP410	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	10891	PPARGC1A	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	10133	OPTN	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	9896	FIG4	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5444	PON1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5446	PON3	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5216	PFN1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	283	ANG	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	29978	UBQLN2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	4750	NEK1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	2043	EPHA4	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	6311	ATXN2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	1610	DAO	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	2066	ERBB4	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	23025	UNC13A	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	899	CCNF	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5575	PRKAR1B	ORPHA:412066
HP:0002451	Limb dystonia	2639	GCDH	ORPHA:25
HP:0002451	Limb dystonia	9997	SCO2	OMIM:604377
HP:0002451	Limb dystonia	4137	MAPT	OMIM:601104
HP:0002451	Limb dystonia	2774	GNAL	OMIM:615073
HP:0002451	Limb dystonia	2774	GNAL	ORPHA:329466
HP:0002451	Limb dystonia	51102	MECR	ORPHA:508093
HP:0002451	Limb dystonia	23516	SLC39A14	OMIM:617013
HP:0002451	Limb dystonia	58494	JAM2	OMIM:618824
HP:0002451	Limb dystonia	2643	GCH1	ORPHA:98808
HP:0002451	Limb dystonia	4929	NR4A2	ORPHA:98808
HP:0002451	Limb dystonia	3615	IMPDH2	ORPHA:98808
HP:0002451	Limb dystonia	54832	VPS13C	OMIM:616840
HP:0002451	Limb dystonia	6531	SLC6A3	OMIM:613135
HP:0002451	Limb dystonia	55145	THAP1	ORPHA:98806
HP:0002451	Limb dystonia	55145	THAP1	OMIM:602629
HP:0002451	Limb dystonia	347734	SLC35B2	OMIM:620269
HP:0002451	Limb dystonia	55823	VPS11	OMIM:619637
HP:0002451	Limb dystonia	1282	COL4A1	OMIM:175780
HP:0002451	Limb dystonia	9256	TSPOAP1	ORPHA:101150
HP:0002451	Limb dystonia	7054	TH	ORPHA:101150
HP:0002451	Limb dystonia	7054	TH	OMIM:605407
HP:0002451	Limb dystonia	6571	SLC18A2	ORPHA:352649
HP:0002451	Limb dystonia	1528	CYB5A	ORPHA:621
HP:0002451	Limb dystonia	1727	CYB5R3	ORPHA:621
HP:0002451	Limb dystonia	6872	TAF1	ORPHA:53351
HP:0002451	Limb dystonia	3208	HPCA	ORPHA:99657
HP:0002451	Limb dystonia	170302	ARX	ORPHA:94083
HP:0002451	Limb dystonia	170302	ARX	OMIM:309510
HP:0002451	Limb dystonia	26580	BSCL2	ORPHA:363400
HP:0002451	Limb dystonia	90522	YIF1B	OMIM:619125
HP:0002451	Limb dystonia	5610	EIF2AK2	OMIM:619687
HP:0002451	Limb dystonia	10939	AFG3L2	ORPHA:101109
HP:0002451	Limb dystonia	1841	DTYMK	OMIM:619847
HP:0002451	Limb dystonia	2782	GNB1	OMIM:616973
HP:0002451	Limb dystonia	1293	COL6A3	OMIM:616411
HP:0002451	Limb dystonia	1293	COL6A3	ORPHA:464440
HP:0002451	Limb dystonia	16	AARS1	OMIM:616339
HP:0002451	Limb dystonia	128486	FITM2	OMIM:618635
HP:0002451	Limb dystonia	1644	DDC	OMIM:608643
HP:0002451	Limb dystonia	540	ATP7B	OMIM:277900
HP:0002451	Limb dystonia	150468	CKAP2L	ORPHA:3255
HP:0002451	Limb dystonia	63982	ANO3	ORPHA:420485
HP:0002451	Limb dystonia	87178	PNPT1	ORPHA:319514
HP:0002451	Limb dystonia	137492	VPS37A	ORPHA:319199
HP:0002451	Limb dystonia	8575	PRKRA	ORPHA:210571
HP:0002451	Limb dystonia	8575	PRKRA	OMIM:612067
HP:0002451	Limb dystonia	80025	PANK2	ORPHA:216873
HP:0002451	Limb dystonia	116228	COX20	OMIM:619054
HP:0002451	Limb dystonia	2260	FGFR1	ORPHA:220386
HP:0002451	Limb dystonia	2260	FGFR1	ORPHA:93924
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:220386
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93926
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93924
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93925
HP:0002451	Limb dystonia	10735	STAG2	ORPHA:220386
HP:0002451	Limb dystonia	10735	STAG2	ORPHA:93925
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:220386
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93926
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93924
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93925
HP:0002451	Limb dystonia	8243	SMC1A	ORPHA:220386
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:220386
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93926
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93924
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93925
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:220386
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93926
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93924
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93925
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:220386
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93926
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93924
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93925
HP:0002451	Limb dystonia	6469	SHH	ORPHA:220386
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93926
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93924
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93925
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:220386
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93926
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93924
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93925
HP:0002451	Limb dystonia	6491	STIL	ORPHA:220386
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93926
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93924
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93925
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:220386
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93926
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93924
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93925
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:220386
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93926
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93924
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93925
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:220386
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93926
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93924
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93925
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:220386
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93926
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93924
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93925
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:220386
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93926
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93924
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93925
HP:0002451	Limb dystonia	50937	CDON	ORPHA:220386
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93926
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93924
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93925
HP:0002451	Limb dystonia	84504	NKX6-2	OMIM:617560
HP:0002451	Limb dystonia	478	ATP1A3	ORPHA:71517
HP:0002451	Limb dystonia	10352	WARS2	ORPHA:572798
HP:0002451	Limb dystonia	23230	VPS13A	ORPHA:2388
HP:0002451	Limb dystonia	23007	PLCH1	ORPHA:93925
HP:0002451	Limb dystonia	10382	TUBB4A	OMIM:128101
HP:0002451	Limb dystonia	60	ACTB	OMIM:607371
HP:0002451	Limb dystonia	11315	PARK7	OMIM:606324
HP:0002451	Limb dystonia	9757	KMT2B	ORPHA:589618
HP:0002451	Limb dystonia	2512	FTL	ORPHA:157846
HP:0002451	Limb dystonia	64601	VPS16	OMIM:619291
HP:0002451	Limb dystonia	84340	GFM2	ORPHA:565624
HP:0002451	Limb dystonia	84909	AOPEP	OMIM:619565
HP:0002451	Limb dystonia	57679	ALS2	OMIM:205100
HP:0002451	Limb dystonia	57679	ALS2	ORPHA:300605
HP:0002451	Limb dystonia	2521	FUS	ORPHA:300605
HP:0002451	Limb dystonia	80208	SPG11	ORPHA:300605
HP:0002451	Limb dystonia	10280	SIGMAR1	ORPHA:300605
HP:0002451	Limb dystonia	10558	SPTLC1	ORPHA:300605
HP:0002451	Limb dystonia	1737	DLAT	ORPHA:79244
HP:0002451	Limb dystonia	23345	SYNE1	ORPHA:88644
HP:0001297	Stroke	4524	MTHFR	ORPHA:395
HP:0001297	Stroke	4524	MTHFR	OMIM:236250
HP:0001297	Stroke	7428	VHL	OMIM:263400
HP:0001297	Stroke	7428	VHL	ORPHA:892
HP:0001297	Stroke	6331	SCN5A	OMIM:614022
HP:0001297	Stroke	6331	SCN5A	OMIM:601154
HP:0001297	Stroke	55503	TRPV6	OMIM:618188
HP:0001297	Stroke	7148	TNXB	ORPHA:230839
HP:0001297	Stroke	1161	ERCC8	ORPHA:90324
HP:0001297	Stroke	2074	ERCC6	ORPHA:90324
HP:0001297	Stroke	5009	OTC	OMIM:311250
HP:0001297	Stroke	2997	GYS1	OMIM:611556
HP:0001297	Stroke	7174	TPP2	ORPHA:444463
HP:0001297	Stroke	2908	NR3C1	ORPHA:786
HP:0001297	Stroke	2908	NR3C1	ORPHA:96253
HP:0001297	Stroke	351	APP	ORPHA:324713
HP:0001297	Stroke	351	APP	ORPHA:324703
HP:0001297	Stroke	351	APP	ORPHA:324708
HP:0001297	Stroke	351	APP	ORPHA:100006
HP:0001297	Stroke	351	APP	OMIM:605714
HP:0001297	Stroke	9342	SNAP29	ORPHA:66631
HP:0001297	Stroke	10560	SLC19A2	ORPHA:49827
HP:0001297	Stroke	10560	SLC19A2	OMIM:249270
HP:0001297	Stroke	11093	ADAMTS13	OMIM:274150
HP:0001297	Stroke	5573	PRKAR1A	ORPHA:1359
HP:0001297	Stroke	50940	PDE11A	ORPHA:1359
HP:0001297	Stroke	51816	ADA2	OMIM:182410
HP:0001297	Stroke	51816	ADA2	OMIM:615688
HP:0001297	Stroke	84196	USP48	ORPHA:96253
HP:0001297	Stroke	7157	TP53	ORPHA:96253
HP:0001297	Stroke	9101	USP8	ORPHA:96253
HP:0001297	Stroke	64072	CDH23	ORPHA:96253
HP:0001297	Stroke	673	BRAF	ORPHA:96253
HP:0001297	Stroke	546	ATRX	ORPHA:96253
HP:0001297	Stroke	3043	HBB	OMIM:603903
HP:0001297	Stroke	9149	DYRK1B	OMIM:615812
HP:0001297	Stroke	4352	MPL	ORPHA:729
HP:0001297	Stroke	3717	JAK2	ORPHA:729
HP:0001297	Stroke	54790	TET2	ORPHA:729
HP:0001297	Stroke	4629	MYH11	OMIM:132900
HP:0001297	Stroke	4629	MYH11	ORPHA:229
HP:0001297	Stroke	4629	MYH11	ORPHA:91387
HP:0001297	Stroke	5346	PLIN1	OMIM:613877
HP:0001297	Stroke	128989	TANGO2	ORPHA:480864
HP:0001297	Stroke	5277	PIGA	ORPHA:447
HP:0001297	Stroke	3291	HSD11B2	ORPHA:320
HP:0001297	Stroke	2318	FLNC	OMIM:617047
HP:0001297	Stroke	2318	FLNC	ORPHA:75249
HP:0001297	Stroke	4204	MECP2	ORPHA:3077
HP:0001297	Stroke	4763	NF1	ORPHA:97685
HP:0001297	Stroke	4089	SMAD4	OMIM:175050
HP:0001297	Stroke	4089	SMAD4	ORPHA:91387
HP:0001297	Stroke	10370	CITED2	ORPHA:99105
HP:0001297	Stroke	10370	CITED2	ORPHA:99103
HP:0001297	Stroke	4854	NOTCH3	OMIM:125310
HP:0001297	Stroke	4854	NOTCH3	ORPHA:136
HP:0001297	Stroke	1471	CST3	OMIM:105150
HP:0001297	Stroke	1471	CST3	ORPHA:100008
HP:0001297	Stroke	7092	TLL1	ORPHA:99103
HP:0001297	Stroke	57057	TBX20	ORPHA:99103
HP:0001297	Stroke	4624	MYH6	ORPHA:99103
HP:0001297	Stroke	1482	NKX2-5	ORPHA:99103
HP:0001297	Stroke	70	ACTC1	ORPHA:99103
HP:0001297	Stroke	2626	GATA4	ORPHA:99103
HP:0001297	Stroke	2627	GATA6	ORPHA:99103
HP:0001297	Stroke	5654	HTRA1	ORPHA:199354
HP:0001297	Stroke	5654	HTRA1	OMIM:616779
HP:0001297	Stroke	5654	HTRA1	OMIM:600142
HP:0001297	Stroke	4607	MYBPC3	OMIM:115197
HP:0001297	Stroke	11277	TREX1	OMIM:192315
HP:0001297	Stroke	5167	ENPP1	ORPHA:51608
HP:0001297	Stroke	368	ABCC6	ORPHA:51608
HP:0001297	Stroke	368	ABCC6	OMIM:264800
HP:0001297	Stroke	6804	STX1A	ORPHA:904
HP:0001297	Stroke	7461	CLIP2	ORPHA:904
HP:0001297	Stroke	84277	DNAJC30	ORPHA:904
HP:0001297	Stroke	8468	FKBP6	ORPHA:904
HP:0001297	Stroke	5982	RFC2	ORPHA:904
HP:0001297	Stroke	2969	GTF2I	ORPHA:904
HP:0001297	Stroke	3984	LIMK1	ORPHA:904
HP:0001297	Stroke	9569	GTF2IRD1	ORPHA:904
HP:0001297	Stroke	155382	VPS37D	ORPHA:904
HP:0001297	Stroke	155368	METTL27	ORPHA:904
HP:0001297	Stroke	114049	BUD23	ORPHA:904
HP:0001297	Stroke	7458	EIF4H	ORPHA:904
HP:0001297	Stroke	84163	GTF2IRD2	ORPHA:904
HP:0001297	Stroke	9275	BCL7B	ORPHA:904
HP:0001297	Stroke	26608	TBL2	ORPHA:904
HP:0001297	Stroke	653361	NCF1	ORPHA:904
HP:0001297	Stroke	135886	TMEM270	ORPHA:904
HP:0001297	Stroke	51085	MLXIPL	ORPHA:904
HP:0001297	Stroke	51085	MLXIPL	OMIM:194050
HP:0001297	Stroke	9031	BAZ1B	ORPHA:904
HP:0001297	Stroke	2006	ELN	ORPHA:904
HP:0001297	Stroke	2006	ELN	OMIM:194050
HP:0001297	Stroke	2006	ELN	ORPHA:91387
HP:0001297	Stroke	84665	MYPN	ORPHA:75249
HP:0001297	Stroke	7139	TNNT2	ORPHA:75249
HP:0001297	Stroke	7137	TNNI3	ORPHA:75249
HP:0001297	Stroke	10112	KIF20A	ORPHA:75249
HP:0001297	Stroke	83605	CCM2	OMIM:603284
HP:0001297	Stroke	189	AGXT	ORPHA:93598
HP:0001297	Stroke	4000	LMNA	ORPHA:740
HP:0001297	Stroke	10269	ZMPSTE24	ORPHA:740
HP:0001297	Stroke	2316	FLNA	OMIM:300049
HP:0001297	Stroke	64131	XYLT1	OMIM:264800
HP:0001297	Stroke	64132	XYLT2	OMIM:264800
HP:0001297	Stroke	80206	FHOD3	OMIM:619402
HP:0001297	Stroke	2982	GUCY1A1	ORPHA:401945
HP:0001297	Stroke	50485	SMARCAL1	ORPHA:1830
HP:0001297	Stroke	50485	SMARCAL1	OMIM:242900
HP:0001297	Stroke	7276	TTR	ORPHA:85451
HP:0001297	Stroke	182	JAG1	OMIM:118450
HP:0001297	Stroke	28976	ACAD9	OMIM:611126
HP:0001297	Stroke	595	CCND1	ORPHA:892
HP:0001297	Stroke	126792	B3GALT6	ORPHA:536467
HP:0001297	Stroke	2147	F2	OMIM:601367
HP:0001297	Stroke	4846	NOS3	OMIM:601367
HP:0001297	Stroke	5583	PRKCH	OMIM:601367
HP:0001297	Stroke	2153	F5	OMIM:601367
HP:0001297	Stroke	241	ALOX5AP	OMIM:601367
HP:0001297	Stroke	727676	SNORD118	ORPHA:542310
HP:0001297	Stroke	5116	PCNT	ORPHA:2637
HP:0001297	Stroke	162417	NAGS	ORPHA:927
HP:0001297	Stroke	25974	MMACHC	ORPHA:79282
HP:0001297	Stroke	445	ASS1	OMIM:215700
HP:0001297	Stroke	875	CBS	OMIM:236200
HP:0001297	Stroke	5286	PIK3C2A	ORPHA:557003
HP:0001297	Stroke	2776	GNAQ	ORPHA:3205
HP:0001297	Stroke	4860	PNP	ORPHA:760
HP:0001297	Stroke	4615	MYD88	ORPHA:33226
HP:0001297	Stroke	4878	NPPA	OMIM:615745
HP:0001297	Stroke	1373	CPS1	OMIM:237300
HP:0001297	Stroke	7535	ZAP70	ORPHA:911
HP:0001297	Stroke	7046	TGFBR1	ORPHA:91387
HP:0001297	Stroke	7048	TGFBR2	ORPHA:91387
HP:0001297	Stroke	4015	LOX	ORPHA:91387
HP:0001297	Stroke	4087	SMAD2	ORPHA:91387
HP:0001297	Stroke	7043	TGFB3	ORPHA:91387
HP:0001297	Stroke	4088	SMAD3	ORPHA:91387
HP:0001297	Stroke	7042	TGFB2	ORPHA:91387
HP:0001297	Stroke	2200	FBN1	ORPHA:91387
HP:0001297	Stroke	59	ACTA2	ORPHA:91387
HP:0001297	Stroke	5592	PRKG1	ORPHA:91387
HP:0001297	Stroke	2301	FOXE3	ORPHA:91387
HP:0001297	Stroke	4144	MAT2A	ORPHA:91387
HP:0001297	Stroke	23493	HEY2	ORPHA:91387
HP:0001297	Stroke	8076	MFAP5	ORPHA:91387
HP:0001297	Stroke	4638	MYLK	ORPHA:91387
HP:0001297	Stroke	4594	MMUT	ORPHA:79312
HP:0001297	Stroke	25978	CHMP2B	ORPHA:100070
HP:0001297	Stroke	5663	PSEN1	ORPHA:100070
HP:0001297	Stroke	2896	GRN	ORPHA:100070
HP:0001297	Stroke	54664	TMEM106B	ORPHA:100070
HP:0001297	Stroke	4137	MAPT	ORPHA:100070
HP:0001297	Stroke	54209	TREM2	ORPHA:100070
HP:0001297	Stroke	7415	VCP	ORPHA:100070
HP:0001297	Stroke	94	ACVRL1	OMIM:600376
HP:0001297	Stroke	2022	ENG	OMIM:187300
HP:0001297	Stroke	81031	SLC2A10	OMIM:208050
HP:0001297	Stroke	6651	SON	ORPHA:500150
HP:0001297	Stroke	2783	GNB2	OMIM:619503
HP:0001297	Stroke	79184	BRCC3	ORPHA:280679
HP:0001297	Stroke	1282	COL4A1	OMIM:175780
HP:0001297	Stroke	2658	GDF2	ORPHA:774
HP:0001297	Stroke	7066	THPO	ORPHA:71493
HP:0001297	Stroke	2717	GLA	OMIM:301500
HP:0001297	Stroke	2717	GLA	ORPHA:324
HP:0001297	Stroke	71	ACTG1	ORPHA:2995
HP:0001297	Stroke	60	ACTB	ORPHA:2995
HP:0001297	Stroke	1281	COL3A1	ORPHA:286
HP:0001297	Stroke	1281	COL3A1	ORPHA:231160
HP:0001297	Stroke	3845	KRAS	OMIM:600268
HP:0001297	Stroke	10019	SH2B3	ORPHA:3318
HP:0001297	Stroke	811	CALR	ORPHA:3318
HP:0001297	Stroke	57674	RNF213	OMIM:607151
HP:0001297	Stroke	55901	THSD1	ORPHA:231160
HP:0001297	Stroke	7049	TGFBR3	ORPHA:231160
HP:0001297	Stroke	83854	ANGPTL6	ORPHA:231160
HP:0001297	Stroke	5621	PRNP	ORPHA:282166
HP:0001297	Stroke	4702	NDUFA8	OMIM:619272
HP:0001297	Stroke	4512	MT-CO1	OMIM:540000
HP:0001297	Stroke	4512	MT-CO1	ORPHA:550
HP:0001297	Stroke	4513	MT-CO2	OMIM:540000
HP:0001297	Stroke	4513	MT-CO2	ORPHA:550
HP:0001297	Stroke	4514	MT-CO3	OMIM:540000
HP:0001297	Stroke	4514	MT-CO3	ORPHA:550
HP:0001297	Stroke	4519	MT-CYB	OMIM:540000
HP:0001297	Stroke	4519	MT-CYB	ORPHA:137675
HP:0001297	Stroke	4511	MT-TC	OMIM:540000
HP:0001297	Stroke	4574	MT-TS1	OMIM:540000
HP:0001297	Stroke	4574	MT-TS1	ORPHA:550
HP:0001297	Stroke	4575	MT-TS2	OMIM:540000
HP:0001297	Stroke	4575	MT-TS2	ORPHA:550
HP:0001297	Stroke	4558	MT-TF	OMIM:540000
HP:0001297	Stroke	4558	MT-TF	ORPHA:550
HP:0001297	Stroke	4541	MT-ND6	OMIM:540000
HP:0001297	Stroke	4541	MT-ND6	ORPHA:550
HP:0001297	Stroke	4567	MT-TL1	OMIM:540000
HP:0001297	Stroke	4567	MT-TL1	ORPHA:550
HP:0001297	Stroke	4540	MT-ND5	OMIM:540000
HP:0001297	Stroke	4540	MT-ND5	ORPHA:550
HP:0001297	Stroke	4566	MT-TK	OMIM:540000
HP:0001297	Stroke	4535	MT-ND1	OMIM:540000
HP:0001297	Stroke	4535	MT-ND1	ORPHA:550
HP:0001297	Stroke	4572	MT-TQ	OMIM:540000
HP:0001297	Stroke	4572	MT-TQ	ORPHA:550
HP:0001297	Stroke	4577	MT-TV	OMIM:540000
HP:0001297	Stroke	4578	MT-TW	OMIM:540000
HP:0001297	Stroke	4578	MT-TW	ORPHA:550
HP:0001297	Stroke	1798	DPAGT1	ORPHA:86309
HP:0001297	Stroke	7466	WFS1	OMIM:222300
HP:0001297	Stroke	4538	MT-ND4	ORPHA:550
HP:0001297	Stroke	4564	MT-TH	ORPHA:550
HP:0001297	Stroke	3980	LIG3	OMIM:619780
HP:0001297	Stroke	54344	DPM3	ORPHA:263494
HP:0001297	Stroke	6786	STIM1	OMIM:185070
HP:0001297	Stroke	91869	RFT1	ORPHA:244310
HP:0001297	Stroke	23600	AMACR	ORPHA:79095
HP:0001297	Stroke	5373	PMM2	OMIM:212065
HP:0001297	Stroke	10128	LRPPRC	ORPHA:70472
HP:0001297	Stroke	79709	COLGALT1	OMIM:618360
HP:0001297	Stroke	4668	NAGA	OMIM:609242
HP:0002453	Abnormal globus pallidus morphology	1593	CYP27A1	ORPHA:909
HP:0002453	Abnormal globus pallidus morphology	3785	KCNQ2	ORPHA:439218
HP:0002453	Abnormal globus pallidus morphology	5430	POLR2A	OMIM:618603
HP:0002453	Abnormal globus pallidus morphology	4594	MMUT	OMIM:251000
HP:0002453	Abnormal globus pallidus morphology	113612	CYP2U1	ORPHA:320411
HP:0002453	Abnormal globus pallidus morphology	55532	SLC30A10	ORPHA:309854
HP:0002453	Abnormal globus pallidus morphology	3417	IDH1	ORPHA:99646
HP:0002453	Abnormal globus pallidus morphology	25915	NDUFAF3	ORPHA:70474
HP:0002453	Abnormal globus pallidus morphology	4714	NDUFB8	ORPHA:70474
HP:0002453	Abnormal globus pallidus morphology	4720	NDUFS2	ORPHA:70474
HP:0002453	Abnormal globus pallidus morphology	9997	SCO2	ORPHA:70474
HP:0002453	Abnormal globus pallidus morphology	6834	SURF1	ORPHA:70474
HP:0002453	Abnormal globus pallidus morphology	80347	COASY	ORPHA:397725
HP:0002453	Abnormal globus pallidus morphology	11152	WDR45	OMIM:300894
HP:0002453	Abnormal globus pallidus morphology	2512	FTL	ORPHA:157846
HP:0002453	Abnormal globus pallidus morphology	27072	VPS41	OMIM:619389
HP:0002453	Abnormal globus pallidus morphology	83636	C19orf12	OMIM:614298
HP:0002453	Abnormal globus pallidus morphology	80025	PANK2	ORPHA:216866
HP:0002453	Abnormal globus pallidus morphology	80025	PANK2	OMIM:607236
HP:0002453	Abnormal globus pallidus morphology	80025	PANK2	OMIM:234200
HP:0002453	Abnormal globus pallidus morphology	79152	FA2H	ORPHA:171629
HP:0002453	Abnormal globus pallidus morphology	318	NUDT2	OMIM:619844
HP:0002453	Abnormal globus pallidus morphology	8398	PLA2G6	ORPHA:35069
HP:0002453	Abnormal globus pallidus morphology	1737	DLAT	ORPHA:79244
HP:0002453	Abnormal globus pallidus morphology	2639	GCDH	ORPHA:25
HP:0002453	Abnormal globus pallidus morphology	23446	SLC44A1	OMIM:618868
HP:0002453	Abnormal globus pallidus morphology	9757	KMT2B	ORPHA:589618
HP:0002453	Abnormal globus pallidus morphology	54676	GTPBP2	OMIM:617988
HP:0002453	Abnormal globus pallidus morphology	64601	VPS16	OMIM:619291
HP:0002454	Eye of the tiger anomaly of globus pallidus	80347	COASY	ORPHA:397725
HP:0002454	Eye of the tiger anomaly of globus pallidus	11152	WDR45	OMIM:300894
HP:0002454	Eye of the tiger anomaly of globus pallidus	2512	FTL	ORPHA:157846
HP:0002454	Eye of the tiger anomaly of globus pallidus	27072	VPS41	OMIM:619389
HP:0002454	Eye of the tiger anomaly of globus pallidus	83636	C19orf12	OMIM:614298
HP:0002454	Eye of the tiger anomaly of globus pallidus	80025	PANK2	ORPHA:216866
HP:0002454	Eye of the tiger anomaly of globus pallidus	80025	PANK2	OMIM:607236
HP:0002454	Eye of the tiger anomaly of globus pallidus	80025	PANK2	OMIM:234200
HP:0002454	Eye of the tiger anomaly of globus pallidus	79152	FA2H	ORPHA:171629
HP:0002454	Eye of the tiger anomaly of globus pallidus	318	NUDT2	OMIM:619844
HP:0002454	Eye of the tiger anomaly of globus pallidus	8398	PLA2G6	ORPHA:35069
HP:0002454	Eye of the tiger anomaly of globus pallidus	1737	DLAT	ORPHA:79244
HP:0008994	Proximal muscle weakness in lower limbs	291	SLC25A4	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	5428	POLG	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	56652	TWNK	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	11232	POLG2	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	50484	RRM2B	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	7273	TTN	OMIM:603689
HP:0008994	Proximal muscle weakness in lower limbs	7273	TTN	ORPHA:609
HP:0008994	Proximal muscle weakness in lower limbs	1410	CRYAB	OMIM:608810
HP:0008994	Proximal muscle weakness in lower limbs	5255	PHKA1	OMIM:300559
HP:0008994	Proximal muscle weakness in lower limbs	7415	VCP	ORPHA:435387
HP:0008994	Proximal muscle weakness in lower limbs	22954	TRIM32	OMIM:254110
HP:0008994	Proximal muscle weakness in lower limbs	54332	GDAP1	ORPHA:99948
HP:0008994	Proximal muscle weakness in lower limbs	54332	GDAP1	ORPHA:101097
HP:0008994	Proximal muscle weakness in lower limbs	8291	DYSF	ORPHA:45448
HP:0008994	Proximal muscle weakness in lower limbs	122622	ADSS1	ORPHA:482601
HP:0008994	Proximal muscle weakness in lower limbs	1756	DMD	ORPHA:206546
HP:0008994	Proximal muscle weakness in lower limbs	3339	HSPG2	OMIM:255800
HP:0008994	Proximal muscle weakness in lower limbs	203859	ANO5	OMIM:613319
HP:0008994	Proximal muscle weakness in lower limbs	9927	MFN2	ORPHA:99947
HP:0008994	Proximal muscle weakness in lower limbs	1303	COL12A1	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1291	COL6A1	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1292	COL6A2	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1293	COL6A3	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	10020	GNE	ORPHA:602
HP:0008994	Proximal muscle weakness in lower limbs	23312	DMXL2	ORPHA:453533
HP:0008994	Proximal muscle weakness in lower limbs	1778	DYNC1H1	OMIM:158600
HP:0008994	Proximal muscle weakness in lower limbs	3991	LIPE	ORPHA:435660
HP:0008994	Proximal muscle weakness in lower limbs	2318	FLNC	ORPHA:63273
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	OMIM:616209
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	ORPHA:457050
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	ORPHA:276435
HP:0008994	Proximal muscle weakness in lower limbs	540	ATP7B	ORPHA:905
HP:0008994	Proximal muscle weakness in lower limbs	203547	VMA21	OMIM:310440
HP:0008994	Proximal muscle weakness in lower limbs	274	BIN1	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	64419	MTMR14	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	4618	MYF6	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	1785	DNM2	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	6261	RYR1	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	4625	MYH7	ORPHA:59135
HP:0008994	Proximal muscle weakness in lower limbs	23556	PIGN	ORPHA:280633
HP:0008994	Proximal muscle weakness in lower limbs	3074	HEXB	ORPHA:309169
HP:0008994	Proximal muscle weakness in lower limbs	3714	JAG2	OMIM:619566
HP:0008994	Proximal muscle weakness in lower limbs	6652	SORD	OMIM:618912
HP:0008994	Proximal muscle weakness in lower limbs	79048	SECISBP2	ORPHA:171706
HP:0008994	Proximal muscle weakness in lower limbs	22880	MORC2	ORPHA:466768
HP:0008994	Proximal muscle weakness in lower limbs	729920	CRPPA	ORPHA:352479
HP:0008994	Proximal muscle weakness in lower limbs	23299	BICD2	OMIM:615290
HP:0008994	Proximal muscle weakness in lower limbs	65055	REEP1	ORPHA:101011
HP:0008994	Proximal muscle weakness in lower limbs	56983	POGLUT1	OMIM:617232
HP:0008994	Proximal muscle weakness in lower limbs	64208	POPDC3	OMIM:618848
HP:0008994	Proximal muscle weakness in lower limbs	64856	VWA1	OMIM:619216
HP:0008994	Proximal muscle weakness in lower limbs	311	ANXA11	OMIM:619733
HP:0008994	Proximal muscle weakness in lower limbs	80208	SPG11	OMIM:616668
HP:0008994	Proximal muscle weakness in lower limbs	81846	SBF2	ORPHA:99956
HP:0008994	Proximal muscle weakness in lower limbs	6606	SMN1	OMIM:253300
HP:0008994	Proximal muscle weakness in lower limbs	2273	FHL1	ORPHA:98863
HP:0008994	Proximal muscle weakness in lower limbs	2010	EMD	ORPHA:98863
HP:0008994	Proximal muscle weakness in lower limbs	23676	SMPX	OMIM:301075
HP:0008994	Proximal muscle weakness in lower limbs	8557	TCAP	OMIM:601954
HP:0008994	Proximal muscle weakness in lower limbs	3178	HNRNPA1	OMIM:615424
HP:0008994	Proximal muscle weakness in lower limbs	3908	LAMA2	OMIM:618138
HP:0008994	Proximal muscle weakness in lower limbs	1371	CPOX	ORPHA:79273
HP:0008994	Proximal muscle weakness in lower limbs	90523	MLIP	OMIM:620138
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98855
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98856
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	3145	HMBS	ORPHA:79276
HP:0008994	Proximal muscle weakness in lower limbs	4747	NEFL	ORPHA:101085
HP:0008994	Proximal muscle weakness in lower limbs	79188	TMEM43	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	23345	SYNE1	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	23224	SYNE2	ORPHA:98853
HP:0002457	Abnormal head movements	773	CACNA1A	ORPHA:71518
HP:0002457	Abnormal head movements	2593	GAMT	ORPHA:382
HP:0002457	Abnormal head movements	54112	GPR88	OMIM:616939
HP:0002457	Abnormal head movements	8260	NAA10	ORPHA:276432
HP:0002457	Abnormal head movements	5192	PEX10	ORPHA:247815
HP:0002457	Abnormal head movements	2332	FMR1	OMIM:300624
HP:0002457	Abnormal head movements	16	AARS1	OMIM:619691
HP:0002457	Abnormal head movements	57165	GJC2	OMIM:608804
HP:0002457	Abnormal head movements	2521	FUS	ORPHA:300605
HP:0002457	Abnormal head movements	80208	SPG11	ORPHA:300605
HP:0002457	Abnormal head movements	10280	SIGMAR1	ORPHA:300605
HP:0002457	Abnormal head movements	10558	SPTLC1	ORPHA:300605
HP:0002457	Abnormal head movements	57679	ALS2	ORPHA:300605
HP:0002457	Abnormal head movements	57679	ALS2	OMIM:205100
HP:0002457	Abnormal head movements	84504	NKX6-2	OMIM:617560
HP:0002457	Abnormal head movements	84504	NKX6-2	ORPHA:527497
HP:0002457	Abnormal head movements	5354	PLP1	OMIM:312080
HP:0002457	Abnormal head movements	26275	HIBCH	ORPHA:88639
HP:0002457	Abnormal head movements	26275	HIBCH	OMIM:250620
HP:0002457	Abnormal head movements	7345	UCHL1	OMIM:615491
HP:0002457	Abnormal head movements	6711	SPTBN1	OMIM:619475
HP:0002457	Abnormal head movements	3329	HSPD1	OMIM:612233
HP:0002457	Abnormal head movements	267010	RNU12	OMIM:620208
HP:0002457	Abnormal head movements	23230	VPS13A	ORPHA:2388
HP:0002457	Abnormal head movements	9725	TMEM63A	OMIM:618688
HP:0002457	Abnormal head movements	5610	EIF2AK2	OMIM:618877
HP:0002457	Abnormal head movements	10749	KIF1C	OMIM:611302
HP:0002457	Abnormal head movements	284217	LAMA1	ORPHA:370022
HP:0002457	Abnormal head movements	4001	LMNB1	ORPHA:99027
HP:0002457	Abnormal head movements	5297	PI4KA	OMIM:619708
HP:0002457	Abnormal head movements	1737	DLAT	OMIM:245348
HP:0002457	Abnormal head movements	6513	SLC2A1	ORPHA:64280
HP:0002457	Abnormal head movements	2562	GABRB3	ORPHA:64280
HP:0002457	Abnormal head movements	2554	GABRA1	ORPHA:64280
HP:0002457	Abnormal head movements	8912	CACNA1H	ORPHA:64280
HP:0002457	Abnormal head movements	8629	JRK	ORPHA:64280
HP:0002457	Abnormal head movements	2566	GABRG2	ORPHA:64280
HP:0002457	Abnormal head movements	4137	MAPT	ORPHA:240103
HP:0002457	Abnormal head movements	5621	PRNP	ORPHA:157941
HP:0002457	Abnormal head movements	6843	VAMP1	ORPHA:251282
HP:0002457	Abnormal head movements	51604	PIGT	ORPHA:369837
HP:0012671	Abulia	25978	CHMP2B	ORPHA:100069
HP:0012671	Abulia	25978	CHMP2B	ORPHA:275864
HP:0012671	Abulia	5663	PSEN1	ORPHA:100069
HP:0012671	Abulia	5663	PSEN1	ORPHA:275864
HP:0012671	Abulia	2896	GRN	ORPHA:100069
HP:0012671	Abulia	2896	GRN	ORPHA:275864
HP:0012671	Abulia	54664	TMEM106B	ORPHA:100069
HP:0012671	Abulia	54664	TMEM106B	ORPHA:275864
HP:0012671	Abulia	4137	MAPT	ORPHA:100069
HP:0012671	Abulia	4137	MAPT	ORPHA:275864
HP:0012671	Abulia	54209	TREM2	ORPHA:100069
HP:0012671	Abulia	54209	TREM2	ORPHA:275864
HP:0012671	Abulia	5654	HTRA1	ORPHA:199354
HP:0012671	Abulia	8878	SQSTM1	ORPHA:275864
HP:0012671	Abulia	7415	VCP	ORPHA:275864
HP:0012671	Abulia	4854	NOTCH3	OMIM:125310
HP:0012672	Akinetic mutism	1641	DCX	ORPHA:2148
HP:0012672	Akinetic mutism	51324	SPG21	OMIM:248900
HP:0012672	Akinetic mutism	5621	PRNP	ORPHA:282166
HP:0012672	Akinetic mutism	5654	HTRA1	ORPHA:199354
HP:0012675	Iron accumulation in brain	80347	COASY	ORPHA:397725
HP:0012675	Iron accumulation in brain	11152	WDR45	OMIM:300894
HP:0012675	Iron accumulation in brain	2512	FTL	ORPHA:157846
HP:0012675	Iron accumulation in brain	27072	VPS41	OMIM:619389
HP:0012675	Iron accumulation in brain	83636	C19orf12	OMIM:614298
HP:0012675	Iron accumulation in brain	80025	PANK2	ORPHA:216866
HP:0012675	Iron accumulation in brain	80025	PANK2	OMIM:607236
HP:0012675	Iron accumulation in brain	80025	PANK2	OMIM:234200
HP:0012675	Iron accumulation in brain	79152	FA2H	ORPHA:171629
HP:0012675	Iron accumulation in brain	318	NUDT2	OMIM:619844
HP:0012675	Iron accumulation in brain	8398	PLA2G6	ORPHA:35069
HP:0012675	Iron accumulation in brain	1737	DLAT	ORPHA:79244
HP:0012675	Iron accumulation in brain	23230	VPS13A	ORPHA:2388
HP:0012675	Iron accumulation in brain	1356	CP	ORPHA:48818
HP:0012675	Iron accumulation in brain	1384	CRAT	OMIM:617917
HP:0012675	Iron accumulation in brain	5277	PIGA	OMIM:301072
HP:0012675	Iron accumulation in brain	85021	REPS1	OMIM:617916
HP:0012675	Iron accumulation in brain	6905	TBCE	ORPHA:496756
HP:0012678	Iron accumulation in substantia nigra	2512	FTL	ORPHA:157846
HP:0012678	Iron accumulation in substantia nigra	11152	WDR45	ORPHA:329284
HP:0012678	Iron accumulation in substantia nigra	27072	VPS41	OMIM:619389
HP:0012678	Iron accumulation in substantia nigra	6905	TBCE	ORPHA:496756
HP:0012679	Widened interpedicular distance	2261	FGFR3	OMIM:146000
HP:0012670	Orthostatic syncope	1621	DBH	ORPHA:230
HP:0012670	Orthostatic syncope	27235	COQ2	ORPHA:227510
HP:0012670	Orthostatic syncope	27235	COQ2	ORPHA:98933
HP:0009618	Abnormality of the proximal phalanx of the thumb	51715	RAB23	OMIM:201000
HP:0009618	Abnormality of the proximal phalanx of the thumb	22856	CHSY1	ORPHA:363417
HP:0009618	Abnormality of the proximal phalanx of the thumb	2263	FGFR2	OMIM:149730
HP:0009618	Abnormality of the proximal phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009618	Abnormality of the proximal phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009618	Abnormality of the proximal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009618	Abnormality of the proximal phalanx of the thumb	10084	PQBP1	OMIM:309500
HP:0009618	Abnormality of the proximal phalanx of the thumb	4841	NONO	OMIM:300967
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	ORPHA:56304
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	OMIM:256050
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	OMIM:222600
HP:0009617	Abnormality of the distal phalanx of the thumb	79796	ALG9	ORPHA:79328
HP:0009617	Abnormality of the distal phalanx of the thumb	22858	CILK1	OMIM:612651
HP:0009617	Abnormality of the distal phalanx of the thumb	1954	MEGF8	OMIM:614976
HP:0009617	Abnormality of the distal phalanx of the thumb	2317	FLNB	OMIM:108721
HP:0009617	Abnormality of the distal phalanx of the thumb	23019	CNOT1	OMIM:618500
HP:0009617	Abnormality of the distal phalanx of the thumb	22856	CHSY1	OMIM:605282
HP:0009617	Abnormality of the distal phalanx of the thumb	54928	BPNT2	OMIM:614078
HP:0009617	Abnormality of the distal phalanx of the thumb	2737	GLI3	OMIM:174700
HP:0009617	Abnormality of the distal phalanx of the thumb	1387	CREBBP	OMIM:180849
HP:0009617	Abnormality of the distal phalanx of the thumb	2033	EP300	OMIM:180849
HP:0009617	Abnormality of the distal phalanx of the thumb	2735	GLI1	OMIM:174400
HP:0009617	Abnormality of the distal phalanx of the thumb	64327	LMBR1	OMIM:174500
HP:0009617	Abnormality of the distal phalanx of the thumb	55012	PPP2R3C	OMIM:618419
HP:0009617	Abnormality of the distal phalanx of the thumb	374654	KIF7	OMIM:200990
HP:0009617	Abnormality of the distal phalanx of the thumb	5053	PAH	ORPHA:2209
HP:0009617	Abnormality of the distal phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009617	Abnormality of the distal phalanx of the thumb	55280	CWF19L1	ORPHA:453521
HP:0009617	Abnormality of the distal phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009617	Abnormality of the distal phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009617	Abnormality of the distal phalanx of the thumb	2316	FLNA	OMIM:311300
HP:0009617	Abnormality of the distal phalanx of the thumb	2778	GNAS	ORPHA:79443
HP:0009617	Abnormality of the distal phalanx of the thumb	2778	GNAS	ORPHA:79444
HP:0009617	Abnormality of the distal phalanx of the thumb	2263	FGFR2	OMIM:101200
HP:0009617	Abnormality of the distal phalanx of the thumb	3239	HOXD13	OMIM:113200
HP:0009617	Abnormality of the distal phalanx of the thumb	3756	KCNH1	ORPHA:420561
HP:0009617	Abnormality of the distal phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009617	Abnormality of the distal phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009617	Abnormality of the distal phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009617	Abnormality of the distal phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009617	Abnormality of the distal phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0009617	Abnormality of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009617	Abnormality of the distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0009616	Bifid first metacarpal	100151683	RNU4ATAC	OMIM:210710
HP:0009623	Proximal placement of thumb	23476	BRD4	ORPHA:199
HP:0009623	Proximal placement of thumb	9126	SMC3	ORPHA:199
HP:0009623	Proximal placement of thumb	9126	SMC3	OMIM:610759
HP:0009623	Proximal placement of thumb	8243	SMC1A	ORPHA:199
HP:0009623	Proximal placement of thumb	8243	SMC1A	OMIM:300590
HP:0009623	Proximal placement of thumb	25836	NIPBL	ORPHA:199
HP:0009623	Proximal placement of thumb	25836	NIPBL	OMIM:122470
HP:0009623	Proximal placement of thumb	55869	HDAC8	ORPHA:199
HP:0009623	Proximal placement of thumb	55869	HDAC8	OMIM:300882
HP:0009623	Proximal placement of thumb	5885	RAD21	ORPHA:199
HP:0009623	Proximal placement of thumb	9361	LONP1	OMIM:600373
HP:0009623	Proximal placement of thumb	579	NKX3-2	OMIM:613330
HP:0009623	Proximal placement of thumb	145173	B3GLCT	OMIM:261540
HP:0009623	Proximal placement of thumb	998	CDC42	ORPHA:487796
HP:0009623	Proximal placement of thumb	998	CDC42	OMIM:616737
HP:0009623	Proximal placement of thumb	22800	RRAS2	OMIM:618624
HP:0009623	Proximal placement of thumb	3209	HOXA13	OMIM:140000
HP:0009623	Proximal placement of thumb	3209	HOXA13	ORPHA:2438
HP:0009623	Proximal placement of thumb	1836	SLC26A2	ORPHA:628
HP:0009623	Proximal placement of thumb	157570	ESCO2	ORPHA:3103
HP:0009623	Proximal placement of thumb	2187	FANCB	OMIM:314390
HP:0009623	Proximal placement of thumb	7547	ZIC3	OMIM:314390
HP:0009623	Proximal placement of thumb	8314	BAP1	OMIM:619762
HP:0009623	Proximal placement of thumb	6472	SHMT2	OMIM:619121
HP:0009623	Proximal placement of thumb	29123	ANKRD11	ORPHA:261250
HP:0009623	Proximal placement of thumb	1717	DHCR7	ORPHA:818
HP:0009623	Proximal placement of thumb	1717	DHCR7	OMIM:270400
HP:0009623	Proximal placement of thumb	118924	FRA10AC1	OMIM:620113
HP:0009623	Proximal placement of thumb	51651	PTRH2	OMIM:616263
HP:0009623	Proximal placement of thumb	51651	PTRH2	ORPHA:456312
HP:0009623	Proximal placement of thumb	5889	RAD51C	OMIM:613390
HP:0009623	Proximal placement of thumb	652	BMP4	ORPHA:139471
HP:0009623	Proximal placement of thumb	55906	ZC4H2	OMIM:314580
HP:0009623	Proximal placement of thumb	9241	NOG	OMIM:611377
HP:0009623	Proximal placement of thumb	79087	ALG12	ORPHA:79324
HP:0009623	Proximal placement of thumb	3756	KCNH1	OMIM:611816
HP:0009623	Proximal placement of thumb	2626	GATA4	ORPHA:251071
HP:0009623	Proximal placement of thumb	7020	TFAP2A	OMIM:113620
HP:0009623	Proximal placement of thumb	25942	SIN3A	ORPHA:94065
HP:0009623	Proximal placement of thumb	25942	SIN3A	OMIM:613406
HP:0009623	Proximal placement of thumb	9775	EIF4A3	OMIM:268305
HP:0009623	Proximal placement of thumb	672	BRCA1	OMIM:617883
HP:0009623	Proximal placement of thumb	8626	TP63	ORPHA:1896
HP:0009623	Proximal placement of thumb	9419	CRIPT	OMIM:615789
HP:0009623	Proximal placement of thumb	4247	MGAT2	OMIM:212066
HP:0009623	Proximal placement of thumb	9343	EFTUD2	OMIM:610536
HP:0009623	Proximal placement of thumb	58499	ZNF462	OMIM:618619
HP:0009623	Proximal placement of thumb	2316	FLNA	ORPHA:90650
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1161	ERCC8	ORPHA:90324
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	2074	ERCC6	ORPHA:90324
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	727676	SNORD118	ORPHA:542310
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	6575	SLC20A2	OMIM:213600
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	5155	PDGFB	OMIM:213600
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	5159	PDGFRB	OMIM:213600
HP:0002463	Language impairment	23394	ADNP	ORPHA:404448
HP:0002463	Language impairment	55703	POLR3B	OMIM:614381
HP:0002463	Language impairment	55703	POLR3B	OMIM:619742
HP:0002463	Language impairment	51256	TBC1D7	OMIM:248000
HP:0002463	Language impairment	340533	NEXMIF	OMIM:300912
HP:0002463	Language impairment	340533	NEXMIF	ORPHA:1942
HP:0002463	Language impairment	23135	KDM6B	OMIM:618505
HP:0002463	Language impairment	6659	SOX4	OMIM:618506
HP:0002463	Language impairment	84334	COA8	ORPHA:436271
HP:0002463	Language impairment	84334	COA8	OMIM:619061
HP:0002463	Language impairment	81570	CLPB	OMIM:619835
HP:0002463	Language impairment	5457	POU4F1	ORPHA:314647
HP:0002463	Language impairment	23261	CAMTA1	ORPHA:314647
HP:0002463	Language impairment	23261	CAMTA1	OMIM:614756
HP:0002463	Language impairment	10159	ATP6AP2	ORPHA:93952
HP:0002463	Language impairment	10159	ATP6AP2	OMIM:300423
HP:0002463	Language impairment	55209	SETD5	ORPHA:404440
HP:0002463	Language impairment	55209	SETD5	OMIM:615761
HP:0002463	Language impairment	4125	MAN2B1	ORPHA:309282
HP:0002463	Language impairment	4125	MAN2B1	ORPHA:309288
HP:0002463	Language impairment	10743	RAI1	ORPHA:477817
HP:0002463	Language impairment	10743	RAI1	ORPHA:819
HP:0002463	Language impairment	10743	RAI1	OMIM:182290
HP:0002463	Language impairment	24137	KIF4A	OMIM:300923
HP:0002463	Language impairment	80816	ASXL3	OMIM:615485
HP:0002463	Language impairment	4487	MSX1	ORPHA:199306
HP:0002463	Language impairment	5818	NECTIN1	ORPHA:199306
HP:0002463	Language impairment	1739	DLG1	ORPHA:199306
HP:0002463	Language impairment	652	BMP4	ORPHA:199306
HP:0002463	Language impairment	8626	TP63	ORPHA:199306
HP:0002463	Language impairment	999	CDH1	ORPHA:199306
HP:0002463	Language impairment	5156	PDGFRA	ORPHA:199306
HP:0002463	Language impairment	3664	IRF6	ORPHA:199306
HP:0002463	Language impairment	9411	ARHGAP29	ORPHA:199306
HP:0002463	Language impairment	1748	DLX4	ORPHA:199306
HP:0002463	Language impairment	8942	KYNU	OMIM:617661
HP:0002463	Language impairment	283489	CHAMP1	OMIM:616579
HP:0002463	Language impairment	27245	AHDC1	ORPHA:412069
HP:0002463	Language impairment	27245	AHDC1	OMIM:615829
HP:0002463	Language impairment	55690	PACS1	OMIM:615009
HP:0002463	Language impairment	55690	PACS1	ORPHA:329224
HP:0002463	Language impairment	55904	KMT2E	OMIM:618512
HP:0002463	Language impairment	318	NUDT2	OMIM:619844
HP:0002463	Language impairment	6595	SMARCA2	ORPHA:2728
HP:0002463	Language impairment	6595	SMARCA2	OMIM:619293
HP:0002463	Language impairment	2132	EXT2	ORPHA:466926
HP:0002463	Language impairment	57082	KNL1	OMIM:604321
HP:0002463	Language impairment	55650	PIGV	OMIM:239300
HP:0002463	Language impairment	2192	FBLN1	ORPHA:404451
HP:0002463	Language impairment	2188	FANCF	OMIM:603467
HP:0002463	Language impairment	284403	WDR62	OMIM:604317
HP:0002463	Language impairment	8029	CUBN	ORPHA:35858
HP:0002463	Language impairment	81693	AMN	ORPHA:35858
HP:0002463	Language impairment	7054	TH	OMIM:605407
HP:0002463	Language impairment	7054	TH	ORPHA:101150
HP:0002463	Language impairment	79868	ALG13	ORPHA:324422
HP:0002463	Language impairment	288	ANK3	OMIM:615493
HP:0002463	Language impairment	288	ANK3	ORPHA:356996
HP:0002463	Language impairment	818	CAMK2G	OMIM:618522
HP:0002463	Language impairment	55154	MSTO1	OMIM:617675
HP:0002463	Language impairment	55154	MSTO1	ORPHA:502423
HP:0002463	Language impairment	64359	NXN	OMIM:618529
HP:0002463	Language impairment	9968	MED12	ORPHA:93932
HP:0002463	Language impairment	9968	MED12	OMIM:300895
HP:0002463	Language impairment	7436	VLDLR	OMIM:224050
HP:0002463	Language impairment	2770	GNAI1	OMIM:619854
HP:0002463	Language impairment	4091	SMAD6	OMIM:617439
HP:0002463	Language impairment	84100	ARL6	OMIM:209900
HP:0002463	Language impairment	79140	CCDC28B	OMIM:209900
HP:0002463	Language impairment	582	BBS1	OMIM:209900
HP:0002463	Language impairment	85465	SELENOI	OMIM:618768
HP:0002463	Language impairment	4330	MN1	OMIM:618774
HP:0002463	Language impairment	5528	PPP2R5D	OMIM:616355
HP:0002463	Language impairment	5528	PPP2R5D	ORPHA:457279
HP:0002463	Language impairment	57231	SNX14	OMIM:616354
HP:0002463	Language impairment	57231	SNX14	ORPHA:397709
HP:0002463	Language impairment	23327	NEDD4L	OMIM:617201
HP:0002463	Language impairment	5833	PCYT2	OMIM:618770
HP:0002463	Language impairment	3340	NDST1	OMIM:616116
HP:0002463	Language impairment	6602	SMARCD1	OMIM:618779
HP:0002463	Language impairment	5373	PMM2	OMIM:212065
HP:0002463	Language impairment	5373	PMM2	ORPHA:79318
HP:0002463	Language impairment	8493	PPM1D	OMIM:617450
HP:0002463	Language impairment	26038	CHD5	OMIM:619873
HP:0002463	Language impairment	2911	GRM1	OMIM:617691
HP:0002463	Language impairment	2911	GRM1	OMIM:614831
HP:0002463	Language impairment	55621	TRMT1	OMIM:618302
HP:0002463	Language impairment	23126	POGZ	OMIM:616364
HP:0002463	Language impairment	23126	POGZ	ORPHA:468678
HP:0002463	Language impairment	55773	TBC1D23	OMIM:617695
HP:0002463	Language impairment	57680	CHD8	OMIM:615032
HP:0002463	Language impairment	8558	CDK10	OMIM:617694
HP:0002463	Language impairment	51633	OTUD6B	OMIM:617452
HP:0002463	Language impairment	9354	UBE4A	OMIM:619639
HP:0002463	Language impairment	55280	CWF19L1	OMIM:616127
HP:0002463	Language impairment	55280	CWF19L1	ORPHA:453521
HP:0002463	Language impairment	92609	TIMM50	OMIM:617698
HP:0002463	Language impairment	3098	HK1	OMIM:618547
HP:0002463	Language impairment	5590	PRKCZ	ORPHA:1606
HP:0002463	Language impairment	2563	GABRD	ORPHA:1606
HP:0002463	Language impairment	23013	SPEN	ORPHA:1606
HP:0002463	Language impairment	23013	SPEN	OMIM:619312
HP:0002463	Language impairment	8510	MMP23B	ORPHA:1606
HP:0002463	Language impairment	7798	LUZP1	ORPHA:1606
HP:0002463	Language impairment	6497	SKI	ORPHA:1606
HP:0002463	Language impairment	10630	PDPN	ORPHA:1606
HP:0002463	Language impairment	3339	HSPG2	ORPHA:1606
HP:0002463	Language impairment	10277	UBE4B	ORPHA:1606
HP:0002463	Language impairment	8514	KCNAB2	ORPHA:1606
HP:0002463	Language impairment	473	RERE	ORPHA:1606
HP:0002463	Language impairment	63976	PRDM16	ORPHA:1606
HP:0002463	Language impairment	54897	CASZ1	ORPHA:1606
HP:0002463	Language impairment	1859	DYRK1A	ORPHA:464311
HP:0002463	Language impairment	1859	DYRK1A	OMIM:614104
HP:0002463	Language impairment	79718	TBL1XR1	OMIM:602342
HP:0002463	Language impairment	5621	PRNP	ORPHA:157941
HP:0002463	Language impairment	2232	FDXR	ORPHA:543470
HP:0002463	Language impairment	200424	TET3	OMIM:618798
HP:0002463	Language impairment	111	ADCY5	OMIM:619647
HP:0002463	Language impairment	111	ADCY5	OMIM:619651
HP:0002463	Language impairment	9772	TMEM94	OMIM:618316
HP:0002463	Language impairment	79971	WLS	OMIM:619648
HP:0002463	Language impairment	9711	RUBCN	ORPHA:404499
HP:0002463	Language impairment	9711	RUBCN	OMIM:615705
HP:0002463	Language impairment	4208	MEF2C	ORPHA:228384
HP:0002463	Language impairment	5981	RFC1	ORPHA:504476
HP:0002463	Language impairment	55739	NAXD	OMIM:618321
HP:0002463	Language impairment	5354	PLP1	OMIM:312080
HP:0002463	Language impairment	5354	PLP1	ORPHA:280219
HP:0002463	Language impairment	7143	TNR	OMIM:619653
HP:0002463	Language impairment	2260	FGFR1	OMIM:166250
HP:0002463	Language impairment	2260	FGFR1	OMIM:190440
HP:0002463	Language impairment	25836	NIPBL	OMIM:122470
HP:0002463	Language impairment	374969	SVBP	OMIM:618569
HP:0002463	Language impairment	51322	WAC	ORPHA:466950
HP:0002463	Language impairment	51322	WAC	ORPHA:284169
HP:0002463	Language impairment	51322	WAC	OMIM:616708
HP:0002463	Language impairment	2778	GNAS	ORPHA:79445
HP:0002463	Language impairment	2055	CLN8	OMIM:600143
HP:0002463	Language impairment	2055	CLN8	ORPHA:1947
HP:0002463	Language impairment	25970	SH2B1	ORPHA:261197
HP:0002463	Language impairment	25970	SH2B1	ORPHA:261222
HP:0002463	Language impairment	25970	SH2B1	ORPHA:329249
HP:0002463	Language impairment	2033	EP300	OMIM:618333
HP:0002463	Language impairment	2033	EP300	OMIM:613684
HP:0002463	Language impairment	2033	EP300	ORPHA:353284
HP:0002463	Language impairment	2033	EP300	OMIM:180849
HP:0002463	Language impairment	10533	ATG7	OMIM:619422
HP:0002463	Language impairment	1523	CUX1	OMIM:618330
HP:0002463	Language impairment	120	ADD3	OMIM:617008
HP:0002463	Language impairment	4212	MEIS2	ORPHA:261190
HP:0002463	Language impairment	6443	SGCB	ORPHA:119
HP:0002463	Language impairment	5813	PURA	ORPHA:314655
HP:0002463	Language impairment	9949	AMMECR1	OMIM:300990
HP:0002463	Language impairment	57526	PCDH19	ORPHA:101039
HP:0002463	Language impairment	695	BTK	OMIM:300755
HP:0002463	Language impairment	6134	RPL10	OMIM:300998
HP:0002463	Language impairment	6134	RPL10	ORPHA:459070
HP:0002463	Language impairment	1281	COL3A1	OMIM:618343
HP:0002463	Language impairment	160418	TMTC3	OMIM:617255
HP:0002463	Language impairment	123606	NIPA1	ORPHA:261183
HP:0002463	Language impairment	7283	TUBG1	ORPHA:261183
HP:0002463	Language impairment	81614	NIPA2	ORPHA:261183
HP:0002463	Language impairment	54517	PUS7	OMIM:618342
HP:0002463	Language impairment	10765	KDM5B	OMIM:618109
HP:0002463	Language impairment	10785	WDR4	OMIM:618347
HP:0002463	Language impairment	4967	OGDH	OMIM:203740
HP:0002463	Language impairment	57122	NUP107	OMIM:618348
HP:0002463	Language impairment	57122	NUP107	OMIM:616730
HP:0002463	Language impairment	6418	SET	OMIM:618106
HP:0002463	Language impairment	56623	INPP5E	OMIM:213300
HP:0002463	Language impairment	56623	INPP5E	ORPHA:75858
HP:0002463	Language impairment	56623	INPP5E	OMIM:610156
HP:0002463	Language impairment	50814	NSDHL	ORPHA:251383
HP:0002463	Language impairment	50814	NSDHL	OMIM:300831
HP:0002463	Language impairment	3708	ITPR1	ORPHA:208513
HP:0002463	Language impairment	3708	ITPR1	OMIM:117360
HP:0002463	Language impairment	7681	MKRN3	OMIM:176270
HP:0002463	Language impairment	3653	IPW	OMIM:176270
HP:0002463	Language impairment	54551	MAGEL2	OMIM:176270
HP:0002463	Language impairment	54551	MAGEL2	ORPHA:398069
HP:0002463	Language impairment	54551	MAGEL2	OMIM:615547
HP:0002463	Language impairment	791114	PWRN1	OMIM:176270
HP:0002463	Language impairment	100033413	SNORD116-1	OMIM:176270
HP:0002463	Language impairment	8924	HERC2	OMIM:176270
HP:0002463	Language impairment	8924	HERC2	OMIM:615516
HP:0002463	Language impairment	145624	PWAR1	OMIM:176270
HP:0002463	Language impairment	23742	NPAP1	OMIM:176270
HP:0002463	Language impairment	338433	SNORD115-1	OMIM:176270
HP:0002463	Language impairment	1120	CHKB	OMIM:602541
HP:0002463	Language impairment	5515	PPP2CA	OMIM:618354
HP:0002463	Language impairment	6096	RORB	OMIM:618357
HP:0002463	Language impairment	112755	STX1B	OMIM:616172
HP:0002463	Language impairment	116461	TSEN15	OMIM:617026
HP:0002463	Language impairment	55262	TRAPPC14	OMIM:618351
HP:0002463	Language impairment	6492	SIM1	ORPHA:171829
HP:0002463	Language impairment	6492	SIM1	ORPHA:398079
HP:0002463	Language impairment	23043	TNIK	OMIM:617028
HP:0002463	Language impairment	4784	NFIX	OMIM:602535
HP:0002463	Language impairment	4784	NFIX	ORPHA:447980
HP:0002463	Language impairment	4784	NFIX	OMIM:614753
HP:0002463	Language impairment	55250	ELP2	OMIM:617270
HP:0002463	Language impairment	84340	GFM2	ORPHA:565624
HP:0002463	Language impairment	84340	GFM2	OMIM:618397
HP:0002463	Language impairment	8888	MCM3AP	OMIM:618124
HP:0002463	Language impairment	51132	RLIM	OMIM:300978
HP:0002463	Language impairment	10588	MTHFS	OMIM:618367
HP:0002463	Language impairment	2334	AFF2	OMIM:309548
HP:0002463	Language impairment	2334	AFF2	ORPHA:100973
HP:0002463	Language impairment	24140	FTSJ1	OMIM:309549
HP:0002463	Language impairment	6601	SMARCC2	OMIM:618362
HP:0002463	Language impairment	513	ATP5F1D	OMIM:618120
HP:0002463	Language impairment	92255	LMBRD2	OMIM:619694
HP:0002463	Language impairment	27341	RRP7A	OMIM:619453
HP:0002463	Language impairment	2019	EN1	OMIM:619218
HP:0002463	Language impairment	549	AUH	OMIM:250950
HP:0002463	Language impairment	549	AUH	ORPHA:67046
HP:0002463	Language impairment	5805	PTS	ORPHA:13
HP:0002463	Language impairment	80311	KLHL15	OMIM:300982
HP:0002463	Language impairment	56776	FMN2	OMIM:616193
HP:0002463	Language impairment	23111	SPART	ORPHA:101000
HP:0002463	Language impairment	2068	ERCC2	OMIM:601675
HP:0002463	Language impairment	1760	DMPK	ORPHA:589821
HP:0002463	Language impairment	7086	TKT	OMIM:617044
HP:0002463	Language impairment	7086	TKT	ORPHA:488618
HP:0002463	Language impairment	6390	SDHB	OMIM:619224
HP:0002463	Language impairment	84892	POMGNT2	OMIM:618135
HP:0002463	Language impairment	63931	MRPS14	OMIM:618378
HP:0002463	Language impairment	164	AP1G1	OMIM:619467
HP:0002463	Language impairment	164	AP1G1	OMIM:619548
HP:0002463	Language impairment	9757	KMT2B	OMIM:617284
HP:0002463	Language impairment	9758	FRMPD4	OMIM:300983
HP:0002463	Language impairment	7253	TSHR	OMIM:609152
HP:0002463	Language impairment	6304	SATB1	OMIM:619228
HP:0002463	Language impairment	6304	SATB1	OMIM:619229
HP:0002463	Language impairment	220296	HEPACAM	OMIM:613925
HP:0002463	Language impairment	220296	HEPACAM	OMIM:613926
HP:0002463	Language impairment	3028	HSD17B10	ORPHA:391428
HP:0002463	Language impairment	3028	HSD17B10	OMIM:300438
HP:0002463	Language impairment	50801	KCNK4	OMIM:618381
HP:0002463	Language impairment	84065	TMEM222	OMIM:619470
HP:0002463	Language impairment	26160	IFT172	OMIM:619471
HP:0002463	Language impairment	11212	PLPBP	OMIM:617290
HP:0002463	Language impairment	55697	VAC14	OMIM:617054
HP:0002463	Language impairment	57498	KIDINS220	OMIM:617296
HP:0002463	Language impairment	8812	CCNK	OMIM:618147
HP:0002463	Language impairment	57187	THOC2	OMIM:300957
HP:0002463	Language impairment	57187	THOC2	ORPHA:457240
HP:0002463	Language impairment	9851	KIAA0753	OMIM:619479
HP:0002463	Language impairment	27107	ZBTB11	OMIM:618383
HP:0002463	Language impairment	2892	GRIA3	ORPHA:364028
HP:0002463	Language impairment	7737	RNF113A	OMIM:300953
HP:0002463	Language impairment	6711	SPTBN1	OMIM:619475
HP:0002463	Language impairment	4361	MRE11	ORPHA:251347
HP:0002463	Language impairment	4361	MRE11	OMIM:604391
HP:0002463	Language impairment	8452	CUL3	OMIM:619239
HP:0002463	Language impairment	6608	SMO	OMIM:241800
HP:0002463	Language impairment	80036	TRPM3	OMIM:620224
HP:0002463	Language impairment	10283	CWC27	ORPHA:166035
HP:0002463	Language impairment	10283	CWC27	OMIM:250410
HP:0002463	Language impairment	388015	RTL1	ORPHA:96184
HP:0002463	Language impairment	388015	RTL1	ORPHA:254531
HP:0002463	Language impairment	388015	RTL1	ORPHA:254525
HP:0002463	Language impairment	8788	DLK1	ORPHA:96184
HP:0002463	Language impairment	8788	DLK1	ORPHA:254531
HP:0002463	Language impairment	8788	DLK1	ORPHA:254525
HP:0002463	Language impairment	55384	MEG3	ORPHA:96184
HP:0002463	Language impairment	55384	MEG3	ORPHA:254531
HP:0002463	Language impairment	55384	MEG3	ORPHA:254525
HP:0002463	Language impairment	11198	SUPT16H	OMIM:619480
HP:0002463	Language impairment	2887	GRB10	ORPHA:96182
HP:0002463	Language impairment	25839	COG4	OMIM:618150
HP:0002463	Language impairment	1457	CSNK2A1	OMIM:617062
HP:0002463	Language impairment	7204	TRIO	OMIM:617061
HP:0002463	Language impairment	7204	TRIO	OMIM:618825
HP:0002463	Language impairment	100147744	RNU7-1	OMIM:619487
HP:0002463	Language impairment	203068	TUBB	OMIM:156610
HP:0002463	Language impairment	203068	TUBB	OMIM:615771
HP:0002463	Language impairment	6872	TAF1	OMIM:300966
HP:0002463	Language impairment	6872	TAF1	ORPHA:480907
HP:0002463	Language impairment	8567	MADD	OMIM:619004
HP:0002463	Language impairment	8567	MADD	OMIM:619005
HP:0002463	Language impairment	4841	NONO	OMIM:300967
HP:0002463	Language impairment	4841	NONO	ORPHA:466791
HP:0002463	Language impairment	5058	PAK1	OMIM:618158
HP:0002463	Language impairment	8239	USP9X	OMIM:300968
HP:0002463	Language impairment	57477	SHROOM4	ORPHA:85288
HP:0002463	Language impairment	23067	SETD1B	OMIM:619000
HP:0002463	Language impairment	23112	TNRC6B	OMIM:619243
HP:0002463	Language impairment	91875	TTC5	OMIM:619244
HP:0002463	Language impairment	9373	PLAA	ORPHA:521426
HP:0002463	Language impairment	23096	IQSEC2	OMIM:309530
HP:0002463	Language impairment	23096	IQSEC2	ORPHA:819
HP:0002463	Language impairment	23096	IQSEC2	ORPHA:217377
HP:0002463	Language impairment	10681	GNB5	ORPHA:542306
HP:0002463	Language impairment	10681	GNB5	OMIM:617173
HP:0002463	Language impairment	10681	GNB5	OMIM:617182
HP:0002463	Language impairment	5625	PRODH	OMIM:239500
HP:0002463	Language impairment	2799	GNS	OMIM:252940
HP:0002463	Language impairment	23387	SIK3	OMIM:618162
HP:0002463	Language impairment	84231	TRAF7	OMIM:618164
HP:0002463	Language impairment	8242	KDM5C	ORPHA:85279
HP:0002463	Language impairment	8242	KDM5C	OMIM:300534
HP:0002463	Language impairment	1315	COPB1	OMIM:619255
HP:0002463	Language impairment	284058	KANSL1	OMIM:610443
HP:0002463	Language impairment	284058	KANSL1	ORPHA:363958
HP:0002463	Language impairment	284058	KANSL1	ORPHA:363965
HP:0002463	Language impairment	81615	TMEM163	OMIM:620243
HP:0002463	Language impairment	51082	POLR1D	OMIM:613717
HP:0002463	Language impairment	10079	ATP9A	OMIM:620242
HP:0002463	Language impairment	2801	GOLGA2	OMIM:620240
HP:0002463	Language impairment	284361	EMC10	OMIM:619264
HP:0002463	Language impairment	170302	ARX	OMIM:309510
HP:0002463	Language impairment	170302	ARX	ORPHA:94083
HP:0002463	Language impairment	8398	PLA2G6	OMIM:610217
HP:0002463	Language impairment	8398	PLA2G6	OMIM:256600
HP:0002463	Language impairment	8398	PLA2G6	ORPHA:35069
HP:0002463	Language impairment	55294	FBXW7	OMIM:620012
HP:0002463	Language impairment	9131	AIFM1	ORPHA:238329
HP:0002463	Language impairment	6095	RORA	OMIM:618060
HP:0002463	Language impairment	5138	PDE2A	OMIM:619150
HP:0002463	Language impairment	8450	CUL4B	OMIM:300354
HP:0002463	Language impairment	6535	SLC6A8	OMIM:300352
HP:0002463	Language impairment	6535	SLC6A8	ORPHA:52503
HP:0002463	Language impairment	26960	NBEA	OMIM:619157
HP:0002463	Language impairment	23241	PACS2	OMIM:618067
HP:0002463	Language impairment	10466	COG5	OMIM:613612
HP:0002463	Language impairment	10466	COG5	ORPHA:263487
HP:0002463	Language impairment	123263	MTFMT	OMIM:614947
HP:0002463	Language impairment	340990	OTOG	OMIM:614945
HP:0002463	Language impairment	51343	FZR1	OMIM:620145
HP:0002463	Language impairment	51343	FZR1	ORPHA:442835
HP:0002463	Language impairment	9839	ZEB2	OMIM:235730
HP:0002463	Language impairment	10093	ARPC4	OMIM:620141
HP:0002463	Language impairment	5447	POR	ORPHA:95699
HP:0002463	Language impairment	80232	WDR26	ORPHA:513456
HP:0002463	Language impairment	3199	HOXA2	ORPHA:83463
HP:0002463	Language impairment	4010	LMX1B	ORPHA:495818
HP:0002463	Language impairment	6812	STXBP1	ORPHA:495818
HP:0002463	Language impairment	80055	PGAP1	OMIM:615802
HP:0002463	Language impairment	2314	FLII	ORPHA:819
HP:0002463	Language impairment	10522	DEAF1	ORPHA:819
HP:0002463	Language impairment	55780	ERMARD	ORPHA:75857
HP:0002463	Language impairment	55780	ERMARD	OMIM:615544
HP:0002463	Language impairment	9382	COG1	OMIM:611209
HP:0002463	Language impairment	4001	LMNB1	OMIM:619179
HP:0002463	Language impairment	64324	NSD1	OMIM:117550
HP:0002463	Language impairment	8913	CACNA1G	OMIM:618087
HP:0002463	Language impairment	3766	KCNJ10	OMIM:612780
HP:0002463	Language impairment	80204	FBXO11	OMIM:618089
HP:0002463	Language impairment	93627	TBCK	OMIM:616900
HP:0002463	Language impairment	93627	TBCK	ORPHA:488632
HP:0002463	Language impairment	80254	CEP63	OMIM:614728
HP:0002463	Language impairment	23325	WASHC4	OMIM:615817
HP:0002463	Language impairment	56984	PSMG2	OMIM:619183
HP:0002463	Language impairment	57531	HACE1	ORPHA:464282
HP:0002463	Language impairment	80856	LNPK	OMIM:618090
HP:0002463	Language impairment	84823	LMNB2	OMIM:619180
HP:0002463	Language impairment	64919	BCL11B	OMIM:618092
HP:0002463	Language impairment	23036	ZNF292	OMIM:619188
HP:0002463	Language impairment	23545	ATP6V0A2	OMIM:278250
HP:0002463	Language impairment	23545	ATP6V0A2	ORPHA:2834
HP:0002463	Language impairment	23545	ATP6V0A2	ORPHA:357074
HP:0002463	Language impairment	23314	SATB2	OMIM:612313
HP:0002463	Language impairment	23314	SATB2	ORPHA:251019
HP:0002463	Language impairment	54872	PIGG	OMIM:616917
HP:0002463	Language impairment	54872	PIGG	ORPHA:488635
HP:0002463	Language impairment	25942	SIN3A	OMIM:613406
HP:0002463	Language impairment	175	AGA	ORPHA:93
HP:0002463	Language impairment	175	AGA	OMIM:208400
HP:0002463	Language impairment	3192	HNRNPU	ORPHA:238769
HP:0002463	Language impairment	9653	HS2ST1	OMIM:619194
HP:0002463	Language impairment	1798	DPAGT1	ORPHA:86309
HP:0002463	Language impairment	10841	FTCD	ORPHA:51208
HP:0002463	Language impairment	5063	PAK3	OMIM:300558
HP:0002463	Language impairment	26053	AUTS2	OMIM:615834
HP:0002463	Language impairment	26053	AUTS2	ORPHA:352490
HP:0002463	Language impairment	3211	HOXB1	OMIM:614744
HP:0002463	Language impairment	773	CACNA1A	ORPHA:2131
HP:0002463	Language impairment	773	CACNA1A	ORPHA:442835
HP:0002463	Language impairment	6507	SLC1A3	ORPHA:2131
HP:0002463	Language impairment	477	ATP1A2	ORPHA:2131
HP:0002463	Language impairment	477	ATP1A2	ORPHA:442835
HP:0002463	Language impairment	478	ATP1A3	ORPHA:2131
HP:0002463	Language impairment	478	ATP1A3	ORPHA:442835
HP:0002463	Language impairment	84720	PIGO	OMIM:614749
HP:0002463	Language impairment	8085	KMT2D	OMIM:620186
HP:0002463	Language impairment	283209	PGM2L1	OMIM:620191
HP:0002463	Language impairment	79228	THOC6	ORPHA:363444
HP:0002463	Language impairment	2316	FLNA	OMIM:300321
HP:0002463	Language impairment	23522	KAT6B	ORPHA:85201
HP:0002463	Language impairment	182	JAG1	OMIM:118450
HP:0002463	Language impairment	10472	ZBTB18	OMIM:612337
HP:0002463	Language impairment	34	ACADM	ORPHA:42
HP:0002463	Language impairment	55084	SOBP	OMIM:613671
HP:0002463	Language impairment	55149	MTPAP	OMIM:613672
HP:0002463	Language impairment	2146	EZH2	OMIM:277590
HP:0002463	Language impairment	81887	LAS1L	OMIM:309585
HP:0002463	Language impairment	10815	CPLX1	ORPHA:352582
HP:0002463	Language impairment	57465	TBC1D24	ORPHA:352582
HP:0002463	Language impairment	6509	SLC1A4	ORPHA:447997
HP:0002463	Language impairment	226	ALDOA	ORPHA:57
HP:0002463	Language impairment	6567	SLC16A2	ORPHA:59
HP:0002463	Language impairment	5832	ALDH18A1	ORPHA:447760
HP:0002463	Language impairment	22907	DHX30	OMIM:617804
HP:0002463	Language impairment	196528	ARID2	OMIM:617808
HP:0002463	Language impairment	10075	HUWE1	OMIM:309590
HP:0002463	Language impairment	6513	SLC2A1	ORPHA:71277
HP:0002463	Language impairment	6513	SLC2A1	OMIM:606777
HP:0002463	Language impairment	6513	SLC2A1	ORPHA:1942
HP:0002463	Language impairment	8243	SMC1A	OMIM:301044
HP:0002463	Language impairment	124997	WDR81	OMIM:610185
HP:0002463	Language impairment	8733	GPAA1	OMIM:617810
HP:0002463	Language impairment	8733	GPAA1	ORPHA:529665
HP:0002463	Language impairment	89891	DYNC2I2	OMIM:615633
HP:0002463	Language impairment	132	ADK	OMIM:614300
HP:0002463	Language impairment	11133	KPTN	OMIM:615637
HP:0002463	Language impairment	11133	KPTN	ORPHA:397612
HP:0002463	Language impairment	6334	SCN8A	OMIM:614306
HP:0002463	Language impairment	6334	SCN8A	ORPHA:442835
HP:0002463	Language impairment	89970	RSPRY1	OMIM:616723
HP:0002463	Language impairment	23028	KDM1A	OMIM:616728
HP:0002463	Language impairment	23028	KDM1A	ORPHA:477993
HP:0002463	Language impairment	26115	TANC2	OMIM:618906
HP:0002463	Language impairment	3981	LIG4	OMIM:606593
HP:0002463	Language impairment	26580	BSCL2	ORPHA:363400
HP:0002463	Language impairment	26580	BSCL2	OMIM:615924
HP:0002463	Language impairment	1806	DPYD	OMIM:274270
HP:0002463	Language impairment	1806	DPYD	ORPHA:293948
HP:0002463	Language impairment	23291	FBXW11	OMIM:618914
HP:0002463	Language impairment	2782	GNB1	OMIM:616973
HP:0002463	Language impairment	4893	NRAS	OMIM:613224
HP:0002463	Language impairment	3097	HIVEP2	OMIM:616977
HP:0002463	Language impairment	10982	MAPRE2	OMIM:616734
HP:0002463	Language impairment	3176	HNMT	OMIM:616739
HP:0002463	Language impairment	2891	GRIA2	OMIM:618917
HP:0002463	Language impairment	4131	MAP1B	OMIM:618918
HP:0002463	Language impairment	84679	SLC9A7	OMIM:301024
HP:0002463	Language impairment	90161	HS6ST2	OMIM:301025
HP:0002463	Language impairment	4694	NDUFA1	OMIM:301020
HP:0002463	Language impairment	10735	STAG2	OMIM:301022
HP:0002463	Language impairment	2332	FMR1	ORPHA:449291
HP:0002463	Language impairment	55906	ZC4H2	OMIM:314580
HP:0002463	Language impairment	63035	BCORL1	OMIM:301029
HP:0002463	Language impairment	85358	SHANK3	ORPHA:48652
HP:0002463	Language impairment	85358	SHANK3	OMIM:606232
HP:0002463	Language impairment	116150	NUS1	OMIM:617831
HP:0002463	Language impairment	116150	NUS1	ORPHA:442835
HP:0002463	Language impairment	79947	DHDDS	OMIM:617836
HP:0002463	Language impairment	79947	DHDDS	ORPHA:442835
HP:0002463	Language impairment	91137	SLC25A46	OMIM:616505
HP:0002463	Language impairment	6678	SPARC	OMIM:616507
HP:0002463	Language impairment	10943	MSL3	OMIM:301032
HP:0002463	Language impairment	6638	SNRPN	OMIM:209850
HP:0002463	Language impairment	6638	SNRPN	ORPHA:177907
HP:0002463	Language impairment	4041	LRP5	ORPHA:2788
HP:0002463	Language impairment	56479	KCNQ5	OMIM:617601
HP:0002463	Language impairment	23152	CIC	OMIM:617600
HP:0002463	Language impairment	128637	TBC1D20	OMIM:615663
HP:0002463	Language impairment	9343	EFTUD2	ORPHA:79113
HP:0002463	Language impairment	9343	EFTUD2	OMIM:610536
HP:0002463	Language impairment	10664	CTCF	ORPHA:363611
HP:0002463	Language impairment	10367	MICU1	OMIM:615673
HP:0002463	Language impairment	8270	LAGE3	OMIM:301006
HP:0002463	Language impairment	22866	CNKSR2	OMIM:301008
HP:0002463	Language impairment	22866	CNKSR2	ORPHA:442835
HP:0002463	Language impairment	1861	TOR1A	OMIM:618947
HP:0002463	Language impairment	117581	TWIST2	OMIM:209885
HP:0002463	Language impairment	117581	TWIST2	OMIM:200110
HP:0002463	Language impairment	117581	TWIST2	ORPHA:920
HP:0002463	Language impairment	23040	MYT1L	OMIM:616521
HP:0002463	Language impairment	8936	WASF1	OMIM:618707
HP:0002463	Language impairment	6697	SPR	ORPHA:70594
HP:0002463	Language impairment	26503	SLC17A5	OMIM:604369
HP:0002463	Language impairment	80210	ARMC9	OMIM:617622
HP:0002463	Language impairment	81562	LMAN2L	OMIM:617863
HP:0002463	Language impairment	84628	NTNG2	OMIM:618718
HP:0002463	Language impairment	139285	AMER1	OMIM:300373
HP:0002463	Language impairment	259266	ASPM	OMIM:608716
HP:0002463	Language impairment	54888	NSUN2	OMIM:611091
HP:0002463	Language impairment	54802	TRIT1	OMIM:617873
HP:0002463	Language impairment	7518	XRCC4	OMIM:616541
HP:0002463	Language impairment	10274	STAG1	OMIM:617635
HP:0002463	Language impairment	51317	PHF21A	OMIM:618725
HP:0002463	Language impairment	2806	GOT2	OMIM:618721
HP:0002463	Language impairment	1788	DNMT3A	OMIM:618724
HP:0002463	Language impairment	3778	KCNMA1	OMIM:618729
HP:0002463	Language impairment	3778	KCNMA1	OMIM:617643
HP:0002463	Language impairment	5573	PRKAR1A	ORPHA:280651
HP:0002463	Language impairment	5144	PDE4D	ORPHA:280651
HP:0002463	Language impairment	5144	PDE4D	OMIM:614613
HP:0002463	Language impairment	2182	ACSL4	OMIM:300387
HP:0002463	Language impairment	9699	RIMS2	OMIM:618970
HP:0002463	Language impairment	1968	EIF2S3	OMIM:300148
HP:0002463	Language impairment	672	BRCA1	OMIM:617883
HP:0002463	Language impairment	5087	PBX1	OMIM:617641
HP:0002463	Language impairment	523	ATP6V1A	OMIM:617403
HP:0002463	Language impairment	523	ATP6V1A	ORPHA:442835
HP:0002463	Language impairment	523	ATP6V1A	ORPHA:357074
HP:0002463	Language impairment	84148	KAT8	OMIM:618974
HP:0002463	Language impairment	157657	CFAP418	OMIM:617406
HP:0002463	Language impairment	27034	ACAD8	ORPHA:79159
HP:0002463	Language impairment	7528	YY1	ORPHA:506358
HP:0002463	Language impairment	7528	YY1	OMIM:617557
HP:0002463	Language impairment	2218	FKTN	ORPHA:272
HP:0002463	Language impairment	8367	H4C5	OMIM:619950
HP:0002463	Language impairment	91452	ACBD5	OMIM:618863
HP:0002463	Language impairment	9853	RUSC2	OMIM:617773
HP:0002463	Language impairment	9524	TECR	OMIM:614020
HP:0002463	Language impairment	4750	NEK1	OMIM:263520
HP:0002463	Language impairment	23446	SLC44A1	OMIM:618868
HP:0002463	Language impairment	6873	TAF2	OMIM:615599
HP:0002463	Language impairment	2895	GRID2	OMIM:616204
HP:0002463	Language impairment	10054	UBA2	OMIM:619959
HP:0002463	Language impairment	2972	BRF1	OMIM:616202
HP:0002463	Language impairment	26040	SETBP1	ORPHA:436151
HP:0002463	Language impairment	26040	SETBP1	OMIM:616078
HP:0002463	Language impairment	3703	STT3A	OMIM:619714
HP:0002463	Language impairment	84942	WDR73	OMIM:251300
HP:0002463	Language impairment	116931	MED12L	OMIM:618872
HP:0002463	Language impairment	3020	H3-3A	OMIM:619720
HP:0002463	Language impairment	7552	ZNF711	OMIM:300803
HP:0002463	Language impairment	1630	DCC	OMIM:617542
HP:0002463	Language impairment	51111	KMT5B	OMIM:617788
HP:0002463	Language impairment	80155	NAA15	OMIM:617787
HP:0002463	Language impairment	472	ATM	OMIM:208900
HP:0002463	Language impairment	10501	SEMA6B	OMIM:618876
HP:0002463	Language impairment	8309	ACOX2	OMIM:617308
HP:0002463	Language impairment	10381	TUBB3	OMIM:614039
HP:0002463	Language impairment	57156	TMEM63C	OMIM:619966
HP:0002463	Language impairment	28960	DCPS	OMIM:616459
HP:0002463	Language impairment	27102	EIF2AK1	OMIM:618878
HP:0002463	Language impairment	3781	KCNN2	OMIM:619725
HP:0002463	Language impairment	5189	PEX1	OMIM:214100
HP:0002463	Language impairment	5189	PEX1	OMIM:601539
HP:0002463	Language impairment	6660	SOX5	ORPHA:313892
HP:0002463	Language impairment	6660	SOX5	OMIM:616803
HP:0002463	Language impairment	137492	VPS37A	ORPHA:319199
HP:0002463	Language impairment	137492	VPS37A	OMIM:614898
HP:0002463	Language impairment	83696	TRAPPC9	OMIM:613192
HP:0002463	Language impairment	129685	TAF8	OMIM:619972
HP:0002463	Language impairment	2590	GALNT2	OMIM:618885
HP:0002463	Language impairment	55870	ASH1L	OMIM:617796
HP:0002463	Language impairment	535	ATP6V0A1	OMIM:619970
HP:0002463	Language impairment	816	CAMK2B	OMIM:617799
HP:0002463	Language impairment	815	CAMK2A	OMIM:617798
HP:0002463	Language impairment	23184	MESD	OMIM:618644
HP:0002463	Language impairment	51319	RSRC1	OMIM:618402
HP:0002463	Language impairment	8560	DEGS1	OMIM:618404
HP:0002463	Language impairment	8726	EED	OMIM:617561
HP:0002463	Language impairment	10715	CERS1	OMIM:616230
HP:0002463	Language impairment	1656	DDX6	OMIM:618653
HP:0002463	Language impairment	2744	GLS	OMIM:618412
HP:0002463	Language impairment	5442	POLRMT	OMIM:619743
HP:0002463	Language impairment	6712	SPTBN2	OMIM:615386
HP:0002463	Language impairment	6712	SPTBN2	ORPHA:352403
HP:0002463	Language impairment	4297	KMT2A	ORPHA:319182
HP:0002463	Language impairment	4297	KMT2A	OMIM:605130
HP:0002463	Language impairment	55714	TENM3	OMIM:615145
HP:0002463	Language impairment	83636	C19orf12	OMIM:614298
HP:0002463	Language impairment	833	CARS1	OMIM:618891
HP:0002463	Language impairment	57178	ZMIZ1	OMIM:618659
HP:0002463	Language impairment	2783	GNB2	OMIM:619503
HP:0002463	Language impairment	26057	ANKRD17	OMIM:619504
HP:0002463	Language impairment	3737	KCNA2	ORPHA:442835
HP:0002463	Language impairment	1759	DNM1	ORPHA:442835
HP:0002463	Language impairment	8120	AP3B2	ORPHA:442835
HP:0002463	Language impairment	10991	SLC38A3	ORPHA:442835
HP:0002463	Language impairment	22906	TRAK1	ORPHA:442835
HP:0002463	Language impairment	2566	GABRG2	ORPHA:442835
HP:0002463	Language impairment	1917	EEF1A2	ORPHA:442835
HP:0002463	Language impairment	1917	EEF1A2	OMIM:616409
HP:0002463	Language impairment	2561	GABRB2	ORPHA:442835
HP:0002463	Language impairment	7532	YWHAG	ORPHA:442835
HP:0002463	Language impairment	79876	UBA5	ORPHA:442835
HP:0002463	Language impairment	6328	SCN3A	ORPHA:442835
HP:0002463	Language impairment	6328	SCN3A	OMIM:617935
HP:0002463	Language impairment	2558	GABRA5	ORPHA:442835
HP:0002463	Language impairment	781	CACNA2D1	ORPHA:442835
HP:0002463	Language impairment	2906	GRIN2D	ORPHA:442835
HP:0002463	Language impairment	10659	CELF2	ORPHA:442835
HP:0002463	Language impairment	10659	CELF2	OMIM:619561
HP:0002463	Language impairment	774	CACNA1B	ORPHA:442835
HP:0002463	Language impairment	1213	CLTC	ORPHA:442835
HP:0002463	Language impairment	51741	WWOX	ORPHA:442835
HP:0002463	Language impairment	51741	WWOX	ORPHA:284282
HP:0002463	Language impairment	23334	SZT2	ORPHA:442835
HP:0002463	Language impairment	51412	ACTL6B	ORPHA:442835
HP:0002463	Language impairment	348980	HCN1	ORPHA:442835
HP:0002463	Language impairment	348980	HCN1	OMIM:618482
HP:0002463	Language impairment	6506	SLC1A2	ORPHA:442835
HP:0002463	Language impairment	8867	SYNJ1	ORPHA:442835
HP:0002463	Language impairment	2258	FGF13	ORPHA:442835
HP:0002463	Language impairment	3745	KCNB1	ORPHA:442835
HP:0002463	Language impairment	284111	SLC13A5	ORPHA:442835
HP:0002463	Language impairment	25977	NECAP1	ORPHA:442835
HP:0002463	Language impairment	16	AARS1	ORPHA:442835
HP:0002463	Language impairment	9568	GABBR2	ORPHA:442835
HP:0002463	Language impairment	2555	GABRA2	ORPHA:442835
HP:0002463	Language impairment	55152	DALRD3	ORPHA:442835
HP:0002463	Language impairment	26999	CYFIP2	ORPHA:442835
HP:0002463	Language impairment	4915	NTRK2	ORPHA:442835
HP:0002463	Language impairment	25973	PARS2	ORPHA:442835
HP:0002463	Language impairment	23097	CDK19	ORPHA:442835
HP:0002463	Language impairment	64801	ARV1	ORPHA:442835
HP:0002463	Language impairment	2257	FGF12	ORPHA:442835
HP:0002463	Language impairment	5530	PPP3CA	ORPHA:442835
HP:0002463	Language impairment	55623	THUMPD1	OMIM:619989
HP:0002463	Language impairment	284439	SLC25A42	OMIM:618416
HP:0002463	Language impairment	253738	EBF3	OMIM:617330
HP:0002463	Language impairment	56006	SMG9	OMIM:619995
HP:0002463	Language impairment	1182	CLCN3	OMIM:619512
HP:0002463	Language impairment	29081	METTL5	OMIM:618665
HP:0002463	Language impairment	10717	AP4B1	OMIM:614066
HP:0002463	Language impairment	7862	BRPF1	OMIM:617333
HP:0002463	Language impairment	54914	FOCAD	OMIM:619991
HP:0002463	Language impairment	8363	H4C11	OMIM:619759
HP:0002463	Language impairment	7701	ZNF142	OMIM:618425
HP:0002463	Language impairment	6899	TBX1	ORPHA:1727
HP:0002463	Language impairment	6899	TBX1	OMIM:188400
HP:0002463	Language impairment	8659	ALDH4A1	ORPHA:79101
HP:0002463	Language impairment	26137	ZBTB20	OMIM:259050
HP:0002463	Language impairment	8314	BAP1	OMIM:619762
HP:0002463	Language impairment	10021	HCN4	OMIM:619521
HP:0002463	Language impairment	7750	ZMYM2	OMIM:619522
HP:0002463	Language impairment	6942	TCF20	OMIM:618430
HP:0002463	Language impairment	2720	GLB1	OMIM:230650
HP:0002463	Language impairment	10297	APC2	OMIM:618677
HP:0002463	Language impairment	10297	APC2	OMIM:617169
HP:0002463	Language impairment	256471	MFSD8	OMIM:610951
HP:0002463	Language impairment	51341	ZBTB7A	OMIM:619769
HP:0002463	Language impairment	9338	TCEAL1	OMIM:301094
HP:0002463	Language impairment	7030	TFE3	OMIM:301066
HP:0002463	Language impairment	4123	MAN2C1	OMIM:619775
HP:0002463	Language impairment	54941	RNF125	OMIM:616260
HP:0002463	Language impairment	85365	ALG2	OMIM:607906
HP:0002463	Language impairment	259232	NALCN	OMIM:616266
HP:0002463	Language impairment	259232	NALCN	ORPHA:371364
HP:0002463	Language impairment	10463	SLC30A9	OMIM:617595
HP:0002463	Language impairment	57479	PRR12	OMIM:619539
HP:0002463	Language impairment	1107	CHD3	OMIM:618205
HP:0002463	Language impairment	80173	IFT74	OMIM:617119
HP:0002463	Language impairment	79087	ALG12	ORPHA:79324
HP:0002463	Language impairment	1173	AP2M1	ORPHA:1942
HP:0002463	Language impairment	6323	SCN1A	ORPHA:1942
HP:0002463	Language impairment	1106	CHD2	ORPHA:1942
HP:0002463	Language impairment	6529	SLC6A1	ORPHA:1942
HP:0002463	Language impairment	25981	DNAH1	ORPHA:244
HP:0002463	Language impairment	115948	ODAD3	ORPHA:244
HP:0002463	Language impairment	54768	HYDIN	ORPHA:244
HP:0002463	Language impairment	352909	DNAAF3	ORPHA:244
HP:0002463	Language impairment	27148	STK36	ORPHA:244
HP:0002463	Language impairment	51314	NME8	ORPHA:244
HP:0002463	Language impairment	92749	DRC1	ORPHA:244
HP:0002463	Language impairment	54970	TTC12	ORPHA:244
HP:0002463	Language impairment	152110	NEK10	ORPHA:244
HP:0002463	Language impairment	8481	OFD1	ORPHA:244
HP:0002463	Language impairment	2302	FOXJ1	ORPHA:244
HP:0002463	Language impairment	221421	RSPH9	ORPHA:244
HP:0002463	Language impairment	85478	CCDC65	ORPHA:244
HP:0002463	Language impairment	55036	CCDC40	ORPHA:244
HP:0002463	Language impairment	51364	ZMYND10	ORPHA:244
HP:0002463	Language impairment	64446	DNAI2	ORPHA:244
HP:0002463	Language impairment	6674	SPAG1	ORPHA:244
HP:0002463	Language impairment	83544	DNAL1	ORPHA:244
HP:0002463	Language impairment	89765	RSPH1	ORPHA:244
HP:0002463	Language impairment	83538	ODAD4	ORPHA:244
HP:0002463	Language impairment	200373	CFAP221	ORPHA:244
HP:0002463	Language impairment	374407	DNAJB13	ORPHA:244
HP:0002463	Language impairment	55172	DNAAF2	ORPHA:244
HP:0002463	Language impairment	161582	DNAAF4	ORPHA:244
HP:0002463	Language impairment	2622	GAS8	ORPHA:244
HP:0002463	Language impairment	23639	DNAAF11	ORPHA:244
HP:0002463	Language impairment	27019	DNAI1	ORPHA:244
HP:0002463	Language impairment	345895	RSPH4A	ORPHA:244
HP:0002463	Language impairment	54919	DNAAF5	ORPHA:244
HP:0002463	Language impairment	6103	RPGR	ORPHA:244
HP:0002463	Language impairment	388389	CCDC103	ORPHA:244
HP:0002463	Language impairment	93233	ODAD1	ORPHA:244
HP:0002463	Language impairment	55130	ODAD2	ORPHA:244
HP:0002463	Language impairment	1767	DNAH5	ORPHA:244
HP:0002463	Language impairment	83861	RSPH3	ORPHA:244
HP:0002463	Language impairment	345643	MCIDAS	ORPHA:244
HP:0002463	Language impairment	56683	CFAP298	ORPHA:244
HP:0002463	Language impairment	79925	SPEF2	ORPHA:244
HP:0002463	Language impairment	10309	CCNO	ORPHA:244
HP:0002463	Language impairment	115399	LRRC56	ORPHA:244
HP:0002463	Language impairment	139212	DNAAF6	ORPHA:244
HP:0002463	Language impairment	123872	DNAAF1	ORPHA:244
HP:0002463	Language impairment	85016	CFAP300	ORPHA:244
HP:0002463	Language impairment	339829	CCDC39	ORPHA:244
HP:0002463	Language impairment	8701	DNAH11	ORPHA:244
HP:0002463	Language impairment	1770	DNAH9	ORPHA:244
HP:0002463	Language impairment	246176	GAS2L2	ORPHA:244
HP:0002463	Language impairment	10262	SF3B4	ORPHA:245
HP:0002463	Language impairment	10262	SF3B4	OMIM:154400
HP:0002463	Language impairment	2742	GLRA2	OMIM:301076
HP:0002463	Language impairment	9896	FIG4	ORPHA:208441
HP:0002463	Language impairment	26100	WIPI2	OMIM:618453
HP:0002463	Language impairment	54903	MKS1	OMIM:617121
HP:0002463	Language impairment	8295	TRRAP	OMIM:618454
HP:0002463	Language impairment	8621	CDK13	OMIM:617360
HP:0002463	Language impairment	5256	PHKA2	ORPHA:264580
HP:0002463	Language impairment	5261	PHKG2	ORPHA:264580
HP:0002463	Language impairment	5587	PRKD1	OMIM:617364
HP:0002463	Language impairment	8905	AP1S2	OMIM:304340
HP:0002463	Language impairment	54808	DYM	ORPHA:239
HP:0002463	Language impairment	55217	TMLHE	OMIM:300872
HP:0002463	Language impairment	5898	RALA	OMIM:619311
HP:0002463	Language impairment	9759	HDAC4	OMIM:619797
HP:0002463	Language impairment	9759	HDAC4	OMIM:600430
HP:0002463	Language impairment	30000	TNPO2	OMIM:619556
HP:0002463	Language impairment	6477	SIAH1	OMIM:619314
HP:0002463	Language impairment	57102	C12orf4	OMIM:618221
HP:0002463	Language impairment	51728	POLR3K	OMIM:619310
HP:0002463	Language impairment	55628	ZNF407	OMIM:619557
HP:0002463	Language impairment	9256	TSPOAP1	ORPHA:101150
HP:0002463	Language impairment	1387	CREBBP	ORPHA:353281
HP:0002463	Language impairment	1387	CREBBP	OMIM:180849
HP:0002463	Language impairment	1387	CREBBP	ORPHA:353277
HP:0002463	Language impairment	56521	DNAJC12	OMIM:617384
HP:0002463	Language impairment	3714	JAG2	OMIM:619566
HP:0002463	Language impairment	10978	CLP1	ORPHA:411493
HP:0002463	Language impairment	23030	KDM4B	OMIM:619320
HP:0002463	Language impairment	443	ASPA	ORPHA:314918
HP:0002463	Language impairment	5010	CLDN11	OMIM:619328
HP:0002463	Language impairment	1725	DHPS	OMIM:618480
HP:0002463	Language impairment	1741	DLG3	OMIM:300850
HP:0002463	Language impairment	57551	TAOK1	OMIM:619575
HP:0002463	Language impairment	25929	GEMIN5	OMIM:619333
HP:0002463	Language impairment	79641	ROGDI	OMIM:226750
HP:0002463	Language impairment	54496	PRMT7	OMIM:617157
HP:0002463	Language impairment	84188	FAR1	OMIM:619338
HP:0002463	Language impairment	9969	MED13	OMIM:618009
HP:0002463	Language impairment	92344	GORAB	OMIM:231070
HP:0002463	Language impairment	10157	AASS	OMIM:238700
HP:0002463	Language impairment	10157	AASS	ORPHA:2203
HP:0002463	Language impairment	23203	PMPCA	OMIM:213200
HP:0002463	Language impairment	23203	PMPCA	ORPHA:1170
HP:0002463	Language impairment	23389	MED13L	ORPHA:369891
HP:0002463	Language impairment	2898	GRIK2	OMIM:619580
HP:0002463	Language impairment	1781	DYNC1I2	OMIM:618492
HP:0002463	Language impairment	7319	UBE2A	OMIM:300860
HP:0002463	Language impairment	9496	TBX4	ORPHA:261279
HP:0002463	Language impairment	8091	HMGA2	ORPHA:94063
HP:0002463	Language impairment	8091	HMGA2	ORPHA:397590
HP:0002463	Language impairment	23592	LEMD3	ORPHA:94063
HP:0002463	Language impairment	22808	MRAS	OMIM:618499
HP:0002463	Language impairment	8635	RNASET2	OMIM:612951
HP:0002463	Language impairment	23594	ORC6	OMIM:613803
HP:0002463	Language impairment	1756	DMD	ORPHA:98896
HP:0002463	Language impairment	8425	LTBP4	ORPHA:98896
HP:0002463	Language impairment	80185	TTI2	ORPHA:391307
HP:0002463	Language impairment	80185	TTI2	OMIM:615541
HP:0002463	Language impairment	2628	GATM	OMIM:612718
HP:0002463	Language impairment	10771	ZMYND11	OMIM:616083
HP:0002463	Language impairment	6611	SMS	ORPHA:3063
HP:0002463	Language impairment	7068	THRB	OMIM:188570
HP:0002463	Language impairment	5977	DPF2	OMIM:618027
HP:0002463	Language impairment	35	ACADS	OMIM:201470
HP:0002463	Language impairment	35	ACADS	ORPHA:26792
HP:0002463	Language impairment	10847	SRCAP	OMIM:619595
HP:0002463	Language impairment	10847	SRCAP	ORPHA:2044
HP:0002463	Language impairment	10847	SRCAP	OMIM:136140
HP:0002463	Language impairment	55526	DHTKD1	OMIM:204750
HP:0002463	Language impairment	3839	KPNA3	OMIM:620106
HP:0002463	Language impairment	79005	SCNM1	OMIM:620107
HP:0002463	Language impairment	1605	DAG1	OMIM:613818
HP:0002463	Language impairment	55210	ATAD3A	OMIM:617183
HP:0002463	Language impairment	2077	ERF	OMIM:617180
HP:0002463	Language impairment	2077	ERF	OMIM:600775
HP:0002463	Language impairment	90522	YIF1B	OMIM:619125
HP:0002463	Language impairment	29123	ANKRD11	ORPHA:261250
HP:0002463	Language impairment	6197	RPS6KA3	OMIM:300844
HP:0002463	Language impairment	1200	TPP1	OMIM:204500
HP:0002463	Language impairment	118924	FRA10AC1	OMIM:620113
HP:0002463	Language impairment	2593	GAMT	OMIM:612736
HP:0002463	Language impairment	55252	ASXL2	OMIM:617190
HP:0002463	Language impairment	6904	TBCD	OMIM:617193
HP:0002463	Language impairment	4508	MT-ATP6	ORPHA:225154
HP:0002463	Language impairment	23636	NUP62	ORPHA:225154
HP:0002463	Language impairment	103	ADAR	ORPHA:225154
HP:0002463	Language impairment	3739	KCNA4	OMIM:618284
HP:0002463	Language impairment	23154	NCDN	OMIM:619373
HP:0002463	Language impairment	4781	NFIB	OMIM:618286
HP:0002463	Language impairment	55074	OXR1	OMIM:213000
HP:0002463	Language impairment	11011	TLK2	OMIM:618050
HP:0002463	Language impairment	27161	AGO2	OMIM:619149
HP:0002463	Language impairment	8665	EIF3F	OMIM:618295
HP:0002463	Language impairment	221927	BRAT1	OMIM:618056
HP:0002463	Language impairment	161742	SPRED1	ORPHA:137605
HP:0002463	Language impairment	64858	DCLRE1B	OMIM:620133
HP:0002463	Language impairment	3480	IGF1R	OMIM:270450
HP:0002463	Language impairment	9325	TRIP4	ORPHA:486815
HP:0002463	Language impairment	11113	CIT	OMIM:617090
HP:0002463	Language impairment	4702	NDUFA8	OMIM:619272
HP:0002463	Language impairment	27183	VPS4A	OMIM:619273
HP:0002463	Language impairment	10128	LRPPRC	OMIM:220111
HP:0002463	Language impairment	7337	UBE3A	ORPHA:238446
HP:0002463	Language impairment	158	ADSL	OMIM:103050
HP:0002463	Language impairment	375	ARF1	OMIM:618185
HP:0002463	Language impairment	23019	CNOT1	OMIM:619033
HP:0002463	Language impairment	55503	TRPV6	OMIM:618188
HP:0002463	Language impairment	775	CACNA1C	OMIM:620029
HP:0002463	Language impairment	7109	TRAPPC10	OMIM:620027
HP:0002463	Language impairment	132158	GLYCTK	ORPHA:941
HP:0002463	Language impairment	501	ALDH7A1	OMIM:266100
HP:0002463	Language impairment	9442	MED27	OMIM:619286
HP:0002463	Language impairment	4649	MYO9A	OMIM:618198
HP:0002463	Language impairment	25914	RTTN	OMIM:614833
HP:0002463	Language impairment	25782	RAB3GAP2	OMIM:212720
HP:0002463	Language impairment	7102	TSPAN7	OMIM:300210
HP:0002463	Language impairment	57492	ARID1B	OMIM:135900
HP:0002463	Language impairment	116228	COX20	OMIM:619054
HP:0002463	Language impairment	26277	TINF2	OMIM:613990
HP:0002463	Language impairment	9739	SETD1A	OMIM:619056
HP:0002463	Language impairment	340024	SLC6A19	OMIM:234500
HP:0002463	Language impairment	8289	ARID1A	OMIM:614607
HP:0002463	Language impairment	10716	TBR1	OMIM:606053
HP:0002463	Language impairment	4697	NDUFA4	OMIM:619065
HP:0002463	Language impairment	10382	TUBB4A	OMIM:612438
HP:0002463	Language impairment	5230	PGK1	ORPHA:713
HP:0002463	Language impairment	5230	PGK1	OMIM:300653
HP:0002463	Language impairment	7915	ALDH5A1	OMIM:271980
HP:0002463	Language impairment	2697	GJA1	OMIM:257850
HP:0002463	Language impairment	2615	LRRC32	OMIM:619074
HP:0002463	Language impairment	4953	ODC1	OMIM:619075
HP:0002463	Language impairment	22859	ADGRL1	OMIM:620065
HP:0002463	Language impairment	6558	SLC12A2	OMIM:619083
HP:0002463	Language impairment	3481	IGF2	ORPHA:397590
HP:0002463	Language impairment	1028	CDKN1C	ORPHA:397590
HP:0002463	Language impairment	5324	PLAG1	ORPHA:397590
HP:0002463	Language impairment	284217	LAMA1	OMIM:615960
HP:0002463	Language impairment	284217	LAMA1	ORPHA:370022
HP:0002463	Language impairment	286262	TPRN	OMIM:613307
HP:0002463	Language impairment	51244	CCDC174	OMIM:616816
HP:0002463	Language impairment	54862	CC2D1A	OMIM:608443
HP:0002463	Language impairment	23065	EMC1	ORPHA:480898
HP:0002463	Language impairment	23065	EMC1	OMIM:616875
HP:0002463	Language impairment	10430	TMEM147	OMIM:620075
HP:0002463	Language impairment	11152	WDR45	OMIM:300894
HP:0002463	Language impairment	22880	MORC2	OMIM:619090
HP:0002463	Language impairment	5295	PIK3R1	OMIM:269880
HP:0002463	Language impairment	4677	NARS1	OMIM:619091
HP:0002463	Language impairment	4677	NARS1	OMIM:619092
HP:0002463	Language impairment	50484	RRM2B	OMIM:268315
HP:0002463	Language impairment	254065	BRWD3	OMIM:300659
HP:0002463	Language impairment	9147	NEMF	OMIM:619099
HP:0002463	Language impairment	1384	CRAT	OMIM:617917
HP:0002463	Language impairment	85021	REPS1	OMIM:617916
HP:0002463	Language impairment	1487	CTBP1	OMIM:617915
HP:0002463	Language impairment	197322	ACSF3	ORPHA:289504
HP:0002463	Language impairment	54413	NLGN3	OMIM:300425
HP:0002463	Language impairment	9775	EIF4A3	OMIM:268305
HP:0002463	Language impairment	93183	PIGM	OMIM:610293
HP:0002463	Language impairment	2702	GJA5	OMIM:612474
HP:0002463	Language impairment	2703	GJA8	OMIM:612474
HP:0002463	Language impairment	867	CBL	OMIM:613563
HP:0002463	Language impairment	29072	SETD2	OMIM:616831
HP:0002463	Language impairment	3897	L1CAM	ORPHA:2466
HP:0002463	Language impairment	51053	GMNN	OMIM:616835
HP:0002463	Language impairment	27241	BBS9	OMIM:615986
HP:0002463	Language impairment	2719	GPC3	OMIM:312870
HP:0002463	Language impairment	2239	GPC4	OMIM:312870
HP:0002463	Language impairment	27152	INTU	OMIM:617926
HP:0002463	Language impairment	274	BIN1	ORPHA:169186
HP:0002463	Language impairment	10290	SPEG	ORPHA:169186
HP:0002463	Language impairment	6261	RYR1	ORPHA:169186
HP:0002463	Language impairment	7273	TTN	ORPHA:169186
HP:0002463	Language impairment	9158	FIBP	ORPHA:500095
HP:0002463	Language impairment	4683	NBN	OMIM:251260
HP:0002463	Language impairment	9698	PUM1	OMIM:617931
HP:0002463	Language impairment	29926	GMPPA	OMIM:615510
HP:0002463	Language impairment	658	BMPR1B	OMIM:616849
HP:0002463	Language impairment	57511	COG6	ORPHA:363523
HP:0002463	Language impairment	57511	COG6	OMIM:615328
HP:0002463	Language impairment	113179	ADAT3	ORPHA:363528
HP:0002463	Language impairment	55784	MCTP2	ORPHA:1596
HP:0002463	Language impairment	5831	PYCR1	OMIM:614438
HP:0002463	Language impairment	3736	KCNA1	ORPHA:37612
HP:0002463	Language impairment	26224	FBXL3	OMIM:606220
HP:0002463	Language impairment	4204	MECP2	OMIM:300055
HP:0002463	Language impairment	4204	MECP2	OMIM:300496
HP:0002463	Language impairment	10484	SEC23A	ORPHA:50814
HP:0002463	Language impairment	7874	USP7	OMIM:616863
HP:0002463	Language impairment	7874	USP7	ORPHA:500055
HP:0002463	Language impairment	55603	TENT5A	OMIM:617952
HP:0002463	Language impairment	26007	TKFC	OMIM:618805
HP:0002463	Language impairment	27315	PGAP2	OMIM:614207
HP:0002463	Language impairment	64131	XYLT1	OMIM:615777
HP:0002463	Language impairment	5257	PHKB	ORPHA:79240
HP:0002463	Language impairment	128989	TANGO2	ORPHA:480864
HP:0002463	Language impairment	5718	PSMD12	ORPHA:529962
HP:0002463	Language impairment	5718	PSMD12	OMIM:617516
HP:0002463	Language impairment	2186	BPTF	ORPHA:529962
HP:0002463	Language impairment	2186	BPTF	OMIM:617755
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276238
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276244
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276241
HP:0002463	Language impairment	27010	TPK1	OMIM:614458
HP:0002463	Language impairment	55644	OSGEP	OMIM:617729
HP:0002463	Language impairment	57572	DOCK6	OMIM:614219
HP:0002463	Language impairment	54658	UGT1A1	ORPHA:79234
HP:0002463	Language impairment	7074	TIAM1	OMIM:619908
HP:0002463	Language impairment	2464	FRA16E	OMIM:136570
HP:0002463	Language impairment	112858	TP53RK	OMIM:617730
HP:0002463	Language impairment	1778	DYNC1H1	OMIM:614228
HP:0002463	Language impairment	4929	NR4A2	OMIM:619911
HP:0002463	Language impairment	285175	UNC80	ORPHA:371364
HP:0002463	Language impairment	8405	SPOP	OMIM:618828
HP:0002463	Language impairment	8405	SPOP	OMIM:618829
HP:0002463	Language impairment	10585	POMT1	ORPHA:86812
HP:0002463	Language impairment	54870	QRICH1	OMIM:617982
HP:0002463	Language impairment	4780	NFE2L2	OMIM:617744
HP:0002463	Language impairment	2890	GRIA1	OMIM:619927
HP:0002463	Language impairment	54805	CNNM2	OMIM:616418
HP:0002463	Language impairment	5500	PPP1CB	OMIM:617506
HP:0002463	Language impairment	7291	TWIST1	OMIM:617746
HP:0002463	Language impairment	126792	B3GALT6	ORPHA:536467
HP:0002463	Language impairment	57502	NLGN4X	OMIM:300495
HP:0002463	Language impairment	4047	LSS	OMIM:618840
HP:0002463	Language impairment	9320	TRIP12	OMIM:617752
HP:0002463	Language impairment	529	ATP6V1E1	ORPHA:357074
HP:0002463	Language impairment	51780	KDM3B	OMIM:618846
HP:0002463	Language impairment	8575	PRKRA	OMIM:612067
HP:0002463	Language impairment	5455	POU3F3	OMIM:618604
HP:0002463	Language impairment	119559	SFXN4	OMIM:615578
HP:0002463	Language impairment	4848	CNOT2	OMIM:618608
HP:0002463	Language impairment	1807	DPYS	OMIM:222748
HP:0002463	Language impairment	2639	GCDH	OMIM:231670
HP:0002463	Language impairment	23133	PHF8	OMIM:300263
HP:0002463	Language impairment	84706	GPT2	ORPHA:477673
HP:0002463	Language impairment	23404	EXOSC2	OMIM:617763
HP:0002463	Language impairment	8738	CRADD	OMIM:614499
HP:0002463	Language impairment	4858	NOVA2	OMIM:618859
HP:0002463	Language impairment	9181	ARHGEF2	OMIM:617523
HP:0002463	Language impairment	547	KIF1A	OMIM:614255
HP:0002463	Language impairment	58499	ZNF462	OMIM:618619
HP:0002463	Language impairment	2582	GALE	OMIM:230350
HP:0002463	Language impairment	2137	EXTL3	ORPHA:508533
HP:0002463	Language impairment	29925	GMPPB	OMIM:615350
HP:0002463	Language impairment	104	ADARB1	OMIM:618862
HP:0002463	Language impairment	55823	VPS11	OMIM:616683
HP:0002463	Language impairment	55823	VPS11	ORPHA:466934
HP:0002463	Language impairment	2775	GNAO1	OMIM:615473
HP:0002463	Language impairment	2775	GNAO1	OMIM:617493
HP:0002463	Language impairment	51569	UFM1	OMIM:617899
HP:0002463	Language impairment	9254	CACNA2D2	OMIM:618501
HP:0002463	Language impairment	7360	UGP2	OMIM:618744
HP:0002463	Language impairment	79848	CSPP1	ORPHA:397715
HP:0002463	Language impairment	9786	KIAA0586	ORPHA:397715
HP:0002463	Language impairment	65993	MRPS34	OMIM:617664
HP:0002463	Language impairment	387787	LIPT2	OMIM:617668
HP:0002463	Language impairment	166378	AFG2A	OMIM:616577
HP:0002463	Language impairment	65082	VPS33A	OMIM:617303
HP:0002463	Language impairment	65082	VPS33A	ORPHA:505248
HP:0002463	Language impairment	10730	YME1L1	OMIM:617302
HP:0002463	Language impairment	10565	ARFGEF1	OMIM:619964
HP:0002463	Language impairment	5610	EIF2AK2	OMIM:618877
HP:0002463	Language impairment	55768	NGLY1	ORPHA:404454
HP:0002463	Language impairment	3190	HNRNPK	OMIM:616580
HP:0002463	Language impairment	7343	UBTF	OMIM:617672
HP:0002463	Language impairment	7343	UBTF	ORPHA:500180
HP:0002463	Language impairment	150094	SIK1	OMIM:616341
HP:0002463	Language impairment	3064	HTT	OMIM:617435
HP:0002463	Language impairment	81857	MED25	ORPHA:464738
HP:0002463	Language impairment	170825	GSX2	OMIM:618646
HP:0002463	Language impairment	7920	ABHD16A	OMIM:619735
HP:0002463	Language impairment	83480	PUS3	ORPHA:488627
HP:0002463	Language impairment	283987	HID1	OMIM:619983
HP:0002463	Language impairment	22884	WDR37	OMIM:618652
HP:0002463	Language impairment	1193	CLIC2	ORPHA:324410
HP:0002463	Language impairment	1193	CLIC2	OMIM:300886
HP:0002463	Language impairment	28514	DLL1	ORPHA:93926
HP:0002463	Language impairment	28514	DLL1	ORPHA:93924
HP:0002463	Language impairment	28514	DLL1	ORPHA:93925
HP:0002463	Language impairment	28514	DLL1	ORPHA:220386
HP:0002463	Language impairment	2253	FGF8	ORPHA:93926
HP:0002463	Language impairment	2253	FGF8	ORPHA:93924
HP:0002463	Language impairment	2253	FGF8	ORPHA:93925
HP:0002463	Language impairment	2253	FGF8	ORPHA:220386
HP:0002463	Language impairment	6496	SIX3	ORPHA:93926
HP:0002463	Language impairment	6496	SIX3	ORPHA:93924
HP:0002463	Language impairment	6496	SIX3	ORPHA:93925
HP:0002463	Language impairment	6496	SIX3	ORPHA:220386
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93926
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93924
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93925
HP:0002463	Language impairment	7050	TGIF1	ORPHA:220386
HP:0002463	Language impairment	4838	NODAL	ORPHA:93926
HP:0002463	Language impairment	4838	NODAL	ORPHA:93924
HP:0002463	Language impairment	4838	NODAL	ORPHA:93925
HP:0002463	Language impairment	4838	NODAL	ORPHA:220386
HP:0002463	Language impairment	6469	SHH	ORPHA:93926
HP:0002463	Language impairment	6469	SHH	ORPHA:93924
HP:0002463	Language impairment	6469	SHH	ORPHA:93925
HP:0002463	Language impairment	6469	SHH	ORPHA:220386
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93926
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93924
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93925
HP:0002463	Language impairment	7546	ZIC2	ORPHA:220386
HP:0002463	Language impairment	6491	STIL	ORPHA:93926
HP:0002463	Language impairment	6491	STIL	ORPHA:93924
HP:0002463	Language impairment	6491	STIL	ORPHA:93925
HP:0002463	Language impairment	6491	STIL	OMIM:612703
HP:0002463	Language impairment	6491	STIL	ORPHA:220386
HP:0002463	Language impairment	2619	GAS1	ORPHA:93926
HP:0002463	Language impairment	2619	GAS1	ORPHA:93924
HP:0002463	Language impairment	2619	GAS1	ORPHA:93925
HP:0002463	Language impairment	2619	GAS1	ORPHA:220386
HP:0002463	Language impairment	84976	DISP1	ORPHA:93926
HP:0002463	Language impairment	84976	DISP1	ORPHA:93924
HP:0002463	Language impairment	84976	DISP1	ORPHA:93925
HP:0002463	Language impairment	84976	DISP1	ORPHA:220386
HP:0002463	Language impairment	2736	GLI2	ORPHA:93926
HP:0002463	Language impairment	2736	GLI2	ORPHA:93924
HP:0002463	Language impairment	2736	GLI2	ORPHA:93925
HP:0002463	Language impairment	2736	GLI2	ORPHA:220386
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93926
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93924
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93925
HP:0002463	Language impairment	8928	FOXH1	ORPHA:220386
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93926
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93924
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93925
HP:0002463	Language impairment	5727	PTCH1	ORPHA:220386
HP:0002463	Language impairment	50937	CDON	ORPHA:93926
HP:0002463	Language impairment	50937	CDON	ORPHA:93924
HP:0002463	Language impairment	50937	CDON	ORPHA:93925
HP:0002463	Language impairment	50937	CDON	ORPHA:220386
HP:0002463	Language impairment	23007	PLCH1	ORPHA:93925
HP:0002463	Language impairment	6905	TBCE	OMIM:617207
HP:0002463	Language impairment	5518	PPP2R1A	OMIM:616362
HP:0002463	Language impairment	5518	PPP2R1A	ORPHA:457284
HP:0002463	Language impairment	84879	MFSD2A	OMIM:616486
HP:0002463	Language impairment	27089	UQCRQ	OMIM:615159
HP:0002463	Language impairment	4191	MDH2	OMIM:617339
HP:0002463	Language impairment	54828	BCAS3	OMIM:619641
HP:0002463	Language impairment	3800	KIF5C	OMIM:615282
HP:0002463	Language impairment	122961	ISCA2	OMIM:616370
HP:0002463	Language impairment	253959	RALGAPA1	OMIM:618797
HP:0002463	Language impairment	2904	GRIN2B	OMIM:616139
HP:0002463	Language impairment	9562	MINPP1	OMIM:619527
HP:0002463	Language impairment	6925	TCF4	OMIM:610954
HP:0002463	Language impairment	6925	TCF4	ORPHA:2896
HP:0002463	Language impairment	57192	MCOLN1	ORPHA:578
HP:0002463	Language impairment	57192	MCOLN1	OMIM:252650
HP:0002463	Language impairment	10667	FARS2	ORPHA:466722
HP:0002463	Language impairment	23556	PIGN	OMIM:614080
HP:0002463	Language impairment	9922	IQSEC1	OMIM:618687
HP:0002463	Language impairment	284098	PIGW	OMIM:616025
HP:0002463	Language impairment	388662	SLC6A17	OMIM:616269
HP:0002463	Language impairment	7994	KAT6A	OMIM:616268
HP:0002463	Language impairment	51227	PIGP	OMIM:617599
HP:0002463	Language impairment	23499	MACF1	OMIM:618325
HP:0002463	Language impairment	51645	PPIL1	OMIM:619301
HP:0002463	Language impairment	58497	PRUNE1	OMIM:617481
HP:0002463	Language impairment	58497	PRUNE1	ORPHA:544469
HP:0002463	Language impairment	26173	INTS1	OMIM:618571
HP:0002463	Language impairment	55656	INTS8	OMIM:618572
HP:0002463	Language impairment	3658	IREB2	OMIM:618451
HP:0002463	Language impairment	51693	TRAPPC2L	OMIM:618331
HP:0002463	Language impairment	6857	SYT1	OMIM:618218
HP:0002463	Language impairment	6857	SYT1	ORPHA:522077
HP:0002463	Language impairment	81603	TRIM8	OMIM:619428
HP:0002463	Language impairment	5277	PIGA	OMIM:301072
HP:0002463	Language impairment	5277	PIGA	OMIM:300868
HP:0002463	Language impairment	11160	ERLIN2	ORPHA:280384
HP:0002463	Language impairment	11160	ERLIN2	ORPHA:209951
HP:0002463	Language impairment	11160	ERLIN2	OMIM:611225
HP:0002463	Language impairment	10059	DNM1L	ORPHA:330050
HP:0002463	Language impairment	8925	HERC1	OMIM:617011
HP:0002463	Language impairment	8925	HERC1	ORPHA:457359
HP:0002463	Language impairment	84894	LINGO1	OMIM:618103
HP:0002463	Language impairment	56896	DPYSL5	OMIM:619435
HP:0002463	Language impairment	54892	NCAPG2	OMIM:618460
HP:0002463	Language impairment	23516	SLC39A14	OMIM:617013
HP:0002463	Language impairment	8573	CASK	OMIM:300749
HP:0002463	Language impairment	8573	CASK	ORPHA:163937
HP:0002463	Language impairment	92335	STRADA	ORPHA:500533
HP:0002463	Language impairment	92335	STRADA	OMIM:611087
HP:0002463	Language impairment	8818	DPM2	ORPHA:329178
HP:0002463	Language impairment	9526	MPDU1	OMIM:609180
HP:0002463	Language impairment	10733	PLK4	OMIM:616171
HP:0002463	Language impairment	11277	TREX1	OMIM:225750
HP:0002463	Language impairment	6647	SOD1	OMIM:618598
HP:0002463	Language impairment	4081	MAB21L1	OMIM:618479
HP:0002463	Language impairment	154881	KCTD7	OMIM:611726
HP:0002463	Language impairment	29954	POMT2	OMIM:236670
HP:0002463	Language impairment	9215	LARGE1	OMIM:236670
HP:0002463	Language impairment	79147	FKRP	OMIM:236670
HP:0002463	Language impairment	8869	ST3GAL5	OMIM:609056
HP:0002463	Language impairment	4948	OCA2	ORPHA:98794
HP:0002463	Language impairment	56915	EXOSC5	OMIM:619576
HP:0002463	Language impairment	23221	RHOBTB2	OMIM:618004
HP:0002463	Language impairment	112939	NACC1	OMIM:617393
HP:0002463	Language impairment	55572	FOXRED1	OMIM:618241
HP:0002463	Language impairment	7965	AIMP2	OMIM:618006
HP:0002463	Language impairment	3376	IARS1	ORPHA:541423
HP:0002463	Language impairment	3376	IARS1	OMIM:617093
HP:0002463	Language impairment	29920	PYCR2	ORPHA:481152
HP:0002463	Language impairment	29920	PYCR2	OMIM:616420
HP:0002463	Language impairment	51608	GET4	OMIM:620200
HP:0002463	Language impairment	8604	SLC25A12	OMIM:612949
HP:0002463	Language impairment	6821	SUOX	OMIM:272300
HP:0002463	Language impairment	7703	PCGF2	OMIM:618371
HP:0002463	Language impairment	23258	DENND5A	OMIM:617281
HP:0002463	Language impairment	389856	USP27X	OMIM:300984
HP:0002463	Language impairment	1822	ATN1	OMIM:618494
HP:0002463	Language impairment	3188	HNRNPH2	OMIM:300986
HP:0002463	Language impairment	5281	PIGF	OMIM:619356
HP:0002463	Language impairment	2290	FOXG1	ORPHA:261144
HP:0002463	Language impairment	2290	FOXG1	OMIM:613454
HP:0002463	Language impairment	57003	CCDC47	OMIM:618268
HP:0002463	Language impairment	94005	PIGS	OMIM:618143
HP:0002463	Language impairment	10682	EBP	OMIM:300960
HP:0002463	Language impairment	22983	MAST1	OMIM:618273
HP:0002463	Language impairment	23287	AGTPBP1	OMIM:618276
HP:0002463	Language impairment	79143	MBOAT7	OMIM:617188
HP:0002463	Language impairment	57038	RARS2	OMIM:611523
HP:0002463	Language impairment	498	ATP5F1A	OMIM:620358
HP:0002463	Language impairment	8911	CACNA1I	OMIM:620114
HP:0002463	Language impairment	10479	SLC9A6	ORPHA:85278
HP:0002463	Language impairment	10479	SLC9A6	OMIM:300243
HP:0002463	Language impairment	777	CACNA1E	OMIM:618285
HP:0002463	Language impairment	55835	CENPJ	OMIM:608393
HP:0002463	Language impairment	55005	RMND1	OMIM:614922
HP:0002463	Language impairment	84081	NSRP1	OMIM:620001
HP:0002463	Language impairment	124454	EARS2	OMIM:614924
HP:0002463	Language impairment	1795	DOCK3	OMIM:618292
HP:0002463	Language impairment	60684	TRAPPC11	ORPHA:369840
HP:0002463	Language impairment	3735	KARS1	OMIM:619147
HP:0002463	Language impairment	27072	VPS41	OMIM:619389
HP:0002463	Language impairment	56947	MFF	OMIM:617086
HP:0002463	Language impairment	1496	CTNNA2	OMIM:618174
HP:0002463	Language impairment	87178	PNPT1	OMIM:614932
HP:0002463	Language impairment	87178	PNPT1	ORPHA:319514
HP:0002463	Language impairment	199857	ALG14	OMIM:619031
HP:0002463	Language impairment	1183	CLCN4	OMIM:300114
HP:0002463	Language impairment	347734	SLC35B2	OMIM:620269
HP:0002463	Language impairment	55325	UFSP2	OMIM:620028
HP:0002463	Language impairment	1119	CHKA	OMIM:620023
HP:0002463	Language impairment	8496	PPFIBP1	OMIM:620024
HP:0002463	Language impairment	4983	OPHN1	OMIM:300486
HP:0002463	Language impairment	6531	SLC6A3	ORPHA:238455
HP:0002463	Language impairment	89910	UBE3B	OMIM:244450
HP:0002463	Language impairment	51506	UFC1	OMIM:618076
HP:0002463	Language impairment	5689	PSMB1	OMIM:620038
HP:0002463	Language impairment	271	AMPD2	OMIM:615809
HP:0002463	Language impairment	56992	KIF15	ORPHA:261323
HP:0002463	Language impairment	64207	IRF2BPL	OMIM:618088
HP:0002463	Language impairment	5119	CHMP1A	OMIM:614961
HP:0002463	Language impairment	55157	DARS2	ORPHA:137898
HP:0002463	Language impairment	114034	TOE1	OMIM:614969
HP:0002463	Language impairment	894	CCND2	OMIM:615938
HP:0002463	Language impairment	6597	SMARCA4	OMIM:614609
HP:0002463	Language impairment	6597	SMARCA4	ORPHA:1465
HP:0002463	Language impairment	23116	TOGARAM1	OMIM:619185
HP:0002463	Language impairment	79583	TMEM231	OMIM:614970
HP:0002463	Language impairment	10352	WARS2	ORPHA:572798
HP:0002463	Language impairment	10352	WARS2	OMIM:617710
HP:0002463	Language impairment	26005	C2CD3	OMIM:615948
HP:0002463	Language impairment	84947	SERAC1	OMIM:614739
HP:0002463	Language impairment	7025	NR2F1	ORPHA:401777
HP:0002463	Language impairment	9255	AIMP1	OMIM:260600
HP:0002463	Language impairment	54499	TMCO1	OMIM:213980
HP:0002463	Language impairment	93210	PGAP3	OMIM:615716
HP:0002463	Language impairment	83475	DOHH	OMIM:620066
HP:0002463	Language impairment	51611	DPH5	OMIM:620070
HP:0002463	Language impairment	5700	PSMC1	OMIM:620071
HP:0002463	Language impairment	440138	ALG11	OMIM:613661
HP:0002463	Language impairment	64135	IFIH1	OMIM:615846
HP:0002463	Language impairment	6605	SMARCE1	OMIM:616938
HP:0002463	Language impairment	6605	SMARCE1	ORPHA:1465
HP:0002463	Language impairment	55691	FRMD4A	OMIM:616819
HP:0002463	Language impairment	55691	FRMD4A	ORPHA:466688
HP:0002463	Language impairment	3187	HNRNPH1	OMIM:620083
HP:0002463	Language impairment	7355	SLC35A2	OMIM:300896
HP:0002463	Language impairment	50628	GEMIN4	OMIM:617913
HP:0002463	Language impairment	85440	DOCK7	OMIM:615859
HP:0002463	Language impairment	7407	VARS1	OMIM:617802
HP:0002463	Language impairment	9894	TELO2	OMIM:616954
HP:0002463	Language impairment	9894	TELO2	ORPHA:488642
HP:0002463	Language impairment	9230	RAB11B	OMIM:617807
HP:0002463	Language impairment	51807	TUBA8	ORPHA:250972
HP:0002463	Language impairment	22845	DOLK	ORPHA:91131
HP:0002463	Language impairment	79587	CARS2	ORPHA:477774
HP:0002463	Language impairment	84162	BLTP1	OMIM:617822
HP:0002463	Language impairment	2902	GRIN1	OMIM:617820
HP:0002463	Language impairment	2902	GRIN1	OMIM:614254
HP:0002463	Language impairment	7280	TUBB2A	OMIM:615763
HP:0002463	Language impairment	998	CDC42	OMIM:616737
HP:0002463	Language impairment	998	CDC42	ORPHA:487796
HP:0002463	Language impairment	51010	EXOSC3	OMIM:614678
HP:0002463	Language impairment	23732	FRRS1L	OMIM:616981
HP:0002463	Language impairment	9512	PMPCB	OMIM:617954
HP:0002463	Language impairment	6598	SMARCB1	ORPHA:1465
HP:0002463	Language impairment	6664	SOX11	ORPHA:1465
HP:0002463	Language impairment	51185	CRBN	OMIM:607417
HP:0002463	Language impairment	84342	COG8	OMIM:611182
HP:0002463	Language impairment	55969	RAB5IF	OMIM:616994
HP:0002463	Language impairment	51501	HIKESHI	OMIM:616881
HP:0002463	Language impairment	55180	LINS1	OMIM:614340
HP:0002463	Language impairment	3747	KCNC2	OMIM:619913
HP:0002463	Language impairment	22931	RAB18	OMIM:614222
HP:0002463	Language impairment	56270	WDR45B	OMIM:617977
HP:0002463	Language impairment	6182	MRPL12	OMIM:618951
HP:0002463	Language impairment	200894	ARL13B	OMIM:612291
HP:0002463	Language impairment	122553	TRAPPC6B	OMIM:617862
HP:0002463	Language impairment	9918	NCAPD2	OMIM:617983
HP:0002463	Language impairment	57688	ZSWIM6	OMIM:617865
HP:0002463	Language impairment	2893	GRIA4	OMIM:617864
HP:0002463	Language impairment	79867	TCTN2	OMIM:616654
HP:0002463	Language impairment	55704	CCDC88A	OMIM:617507
HP:0002463	Language impairment	55164	SHQ1	OMIM:619922
HP:0002463	Language impairment	3756	KCNH1	ORPHA:420561
HP:0002463	Language impairment	51	ACOX1	OMIM:618960
HP:0002463	Language impairment	5879	RAC1	OMIM:617751
HP:0002463	Language impairment	5879	RAC1	ORPHA:500159
HP:0002463	Language impairment	9197	SLC33A1	OMIM:614482
HP:0002463	Language impairment	57731	SPTBN4	OMIM:617519
HP:0002463	Language impairment	57194	ATP10A	ORPHA:411515
HP:0002463	Language impairment	9990	SLC12A6	OMIM:218000
HP:0002463	Language impairment	1203	CLN5	ORPHA:228360
HP:0002463	Language impairment	57459	GATAD2B	OMIM:615074
HP:0002463	Language impairment	3975	LHX1	ORPHA:261265
HP:0002463	Language impairment	6928	HNF1B	ORPHA:261265
HP:0002463	Language impairment	79853	TM4SF20	OMIM:615432
HP:0002463	Language impairment	9289	ADGRG1	OMIM:615752
HP:0002463	Language impairment	9289	ADGRG1	ORPHA:98889
HP:0002463	Language impairment	9289	ADGRG1	ORPHA:101070
HP:0002463	Language impairment	6775	STAT4	ORPHA:93552
HP:0002463	Language impairment	6696	SPP1	ORPHA:93552
HP:0002463	Language impairment	3654	IRAK1	ORPHA:93552
HP:0002463	Language impairment	5297	PI4KA	ORPHA:98889
HP:0002463	Language impairment	27286	SRPX2	ORPHA:98889
HP:0002463	Language impairment	2705	GJB1	ORPHA:101075
HP:0002463	Language impairment	5728	PTEN	ORPHA:101070
HP:0002463	Language impairment	5631	PRPS1	ORPHA:99014
HP:0002463	Language impairment	79813	EHMT1	ORPHA:261652
HP:0002463	Language impairment	58508	KMT2C	ORPHA:261652
HP:0002463	Language impairment	613	BCR	ORPHA:261330
HP:0002463	Language impairment	1399	CRKL	ORPHA:261330
HP:0002463	Language impairment	5594	MAPK1	ORPHA:261330
HP:0002463	Language impairment	5575	PRKAR1B	ORPHA:412066
HP:0002463	Language impairment	3178	HNRNPA1	ORPHA:52430
HP:0002463	Language impairment	3181	HNRNPA2B1	ORPHA:52430
HP:0002463	Language impairment	4854	NOTCH3	ORPHA:136
HP:0002463	Language impairment	55777	MBD5	OMIM:156200
HP:0002463	Language impairment	27086	FOXP1	OMIM:613670
HP:0002463	Language impairment	26047	CNTNAP2	OMIM:610042
HP:0002463	Language impairment	8831	SYNGAP1	OMIM:612621
HP:0002463	Language impairment	201163	FLCN	OMIM:610883
HP:0002463	Language impairment	5664	PSEN2	ORPHA:1020
HP:0002463	Language impairment	10452	TOMM40	ORPHA:1020
HP:0002463	Language impairment	351	APP	ORPHA:1020
HP:0002463	Language impairment	10347	ABCA7	ORPHA:1020
HP:0002463	Language impairment	6653	SORL1	ORPHA:1020
HP:0002463	Language impairment	5048	PAFAH1B1	ORPHA:95232
HP:0002463	Language impairment	1641	DCX	ORPHA:2148
HP:0002463	Language impairment	29110	TBK1	OMIM:616439
HP:0002463	Language impairment	8878	SQSTM1	OMIM:616437
HP:0002463	Language impairment	2903	GRIN2A	ORPHA:98818
HP:0002463	Language impairment	4763	NF1	ORPHA:97685
HP:0002463	Language impairment	79158	GNPTAB	ORPHA:576
HP:0002463	Language impairment	8565	YARS1	OMIM:619418
HP:0002463	Language impairment	6389	SDHA	ORPHA:3208
HP:0002463	Language impairment	6392	SDHD	ORPHA:3208
HP:0002463	Language impairment	644096	SDHAF1	ORPHA:3208
HP:0002463	Language impairment	9439	MED23	OMIM:614249
HP:0002463	Language impairment	10020	GNE	ORPHA:3166
HP:0002463	Language impairment	22827	PUF60	ORPHA:508488
HP:0002463	Language impairment	6472	SHMT2	OMIM:619121
HP:0002463	Language impairment	55186	SLC25A36	OMIM:620211
HP:0002463	Language impairment	171023	ASXL1	ORPHA:97297
HP:0002463	Language impairment	2592	GALT	ORPHA:79239
HP:0002463	Language impairment	93986	FOXP2	ORPHA:209908
HP:0002463	Language impairment	93986	FOXP2	OMIM:602081
HP:0002463	Language impairment	4137	MAPT	ORPHA:240112
HP:0002463	Language impairment	4137	MAPT	ORPHA:100070
HP:0002463	Language impairment	25978	CHMP2B	ORPHA:100070
HP:0002463	Language impairment	5663	PSEN1	ORPHA:100070
HP:0002463	Language impairment	2896	GRN	ORPHA:100070
HP:0002463	Language impairment	54664	TMEM106B	ORPHA:100070
HP:0002463	Language impairment	54209	TREM2	ORPHA:100070
HP:0002463	Language impairment	7415	VCP	ORPHA:100070
HP:0002463	Language impairment	6515	SLC2A3	ORPHA:399
HP:0002463	Language impairment	4692	NDN	ORPHA:177904
HP:0002463	Language impairment	4692	NDN	ORPHA:177901
HP:0002463	Language impairment	5332	PLCB4	OMIM:614669
HP:0002463	Language impairment	2773	GNAI3	OMIM:602483
HP:0002463	Language impairment	7314	UBB	ORPHA:99772
HP:0002463	Language impairment	57822	GRHL3	ORPHA:99772
HP:0002463	Language impairment	7840	ALMS1	ORPHA:64
HP:0002464	Spastic dysarthria	25782	RAB3GAP2	ORPHA:401830
HP:0002464	Spastic dysarthria	5621	PRNP	ORPHA:282166
HP:0002464	Spastic dysarthria	10717	AP4B1	ORPHA:280763
HP:0002464	Spastic dysarthria	9179	AP4M1	ORPHA:280763
HP:0002464	Spastic dysarthria	11154	AP4S1	ORPHA:280763
HP:0002464	Spastic dysarthria	23431	AP4E1	ORPHA:280763
HP:0002464	Spastic dysarthria	87178	PNPT1	ORPHA:101111
HP:0002464	Spastic dysarthria	4099	MAG	OMIM:616680
HP:0002464	Spastic dysarthria	57679	ALS2	OMIM:205100
HP:0002464	Spastic dysarthria	57679	ALS2	OMIM:606353
HP:0002464	Spastic dysarthria	57679	ALS2	ORPHA:247604
HP:0002464	Spastic dysarthria	4137	MAPT	ORPHA:240094
HP:0002464	Spastic dysarthria	57704	GBA2	ORPHA:352641
HP:0002464	Spastic dysarthria	57704	GBA2	ORPHA:320391
HP:0002464	Spastic dysarthria	55775	TDP1	ORPHA:94124
HP:0002464	Spastic dysarthria	5190	PEX6	ORPHA:95433
HP:0002464	Spastic dysarthria	92935	MARS2	ORPHA:314603
HP:0002464	Spastic dysarthria	5832	ALDH18A1	ORPHA:447757
HP:0002464	Spastic dysarthria	5832	ALDH18A1	ORPHA:447753
HP:0002464	Spastic dysarthria	11160	ERLIN2	ORPHA:247604
HP:0002464	Spastic dysarthria	10939	AFG3L2	ORPHA:313772
HP:0002464	Spastic dysarthria	6843	VAMP1	ORPHA:251282
HP:0002464	Spastic dysarthria	84188	FAR1	ORPHA:447753
HP:0002464	Spastic dysarthria	11128	POLR3A	ORPHA:447896
HP:0002464	Spastic dysarthria	724066	ATXN8	ORPHA:98760
HP:0002464	Spastic dysarthria	6315	ATXN8OS	ORPHA:98760
HP:0002464	Spastic dysarthria	23111	SPART	ORPHA:101000
HP:0002464	Spastic dysarthria	51218	GLRX5	ORPHA:401866
HP:0002464	Spastic dysarthria	6687	SPG7	ORPHA:35689
HP:0002464	Spastic dysarthria	2705	GJB1	ORPHA:1175
HP:0002464	Spastic dysarthria	492	ATP2B3	ORPHA:314978
HP:0002465	Poor speech	8243	SMC1A	OMIM:300590
HP:0002465	Poor speech	8243	SMC1A	ORPHA:220386
HP:0002465	Poor speech	353116	RILPL1	OMIM:619790
HP:0002465	Poor speech	11253	MAN1B1	ORPHA:397941
HP:0002465	Poor speech	57459	GATAD2B	OMIM:615074
HP:0002465	Poor speech	57459	GATAD2B	ORPHA:363686
HP:0002465	Poor speech	1859	DYRK1A	ORPHA:268261
HP:0002465	Poor speech	22856	CHSY1	ORPHA:363417
HP:0002465	Poor speech	55823	VPS11	OMIM:616683
HP:0002465	Poor speech	55823	VPS11	ORPHA:466934
HP:0002465	Poor speech	2132	EXT2	OMIM:616682
HP:0002465	Poor speech	51126	NAA20	OMIM:619717
HP:0002465	Poor speech	132	ADK	OMIM:614300
HP:0002465	Poor speech	60684	TRAPPC11	OMIM:615356
HP:0002465	Poor speech	4719	NDUFS1	OMIM:618226
HP:0002465	Poor speech	25821	MTO1	OMIM:614702
HP:0002465	Poor speech	6418	SET	OMIM:618106
HP:0002465	Poor speech	7109	TRAPPC10	OMIM:620027
HP:0002465	Poor speech	84942	WDR73	OMIM:251300
HP:0002465	Poor speech	79796	ALG9	OMIM:608776
HP:0002465	Poor speech	5279	PIGC	OMIM:617816
HP:0002465	Poor speech	3190	HNRNPK	ORPHA:453504
HP:0002465	Poor speech	3190	HNRNPK	OMIM:616580
HP:0002465	Poor speech	3190	HNRNPK	ORPHA:352665
HP:0002465	Poor speech	1120	CHKB	OMIM:602541
HP:0002465	Poor speech	57165	GJC2	OMIM:608804
HP:0002465	Poor speech	7707	ZNF148	OMIM:617260
HP:0002465	Poor speech	2593	GAMT	ORPHA:382
HP:0002465	Poor speech	2972	BRF1	ORPHA:444072
HP:0002465	Poor speech	6873	TAF2	ORPHA:397951
HP:0002465	Poor speech	1436	CSF1R	OMIM:618476
HP:0002465	Poor speech	6616	SNAP25	OMIM:616330
HP:0002465	Poor speech	443	ASPA	ORPHA:314918
HP:0002465	Poor speech	790	CAD	OMIM:616457
HP:0002465	Poor speech	4953	ODC1	ORPHA:544488
HP:0002465	Poor speech	10730	YME1L1	OMIM:617302
HP:0002465	Poor speech	25914	RTTN	OMIM:614833
HP:0002465	Poor speech	25914	RTTN	ORPHA:468631
HP:0002465	Poor speech	84197	POMK	OMIM:615249
HP:0002465	Poor speech	56623	INPP5E	ORPHA:75858
HP:0002465	Poor speech	11152	WDR45	ORPHA:329284
HP:0002465	Poor speech	11152	WDR45	OMIM:300894
HP:0002465	Poor speech	55768	NGLY1	ORPHA:404454
HP:0002465	Poor speech	526	ATP6V1B2	ORPHA:79499
HP:0002465	Poor speech	9126	SMC3	OMIM:610759
HP:0002465	Poor speech	26224	FBXL3	OMIM:606220
HP:0002465	Poor speech	6904	TBCD	ORPHA:496641
HP:0002465	Poor speech	90161	HS6ST2	OMIM:301025
HP:0002465	Poor speech	79158	GNPTAB	ORPHA:576
HP:0002465	Poor speech	29925	GMPPB	ORPHA:370968
HP:0002465	Poor speech	79147	FKRP	ORPHA:370968
HP:0002465	Poor speech	29954	POMT2	ORPHA:370968
HP:0002465	Poor speech	9215	LARGE1	ORPHA:370968
HP:0002465	Poor speech	10585	POMT1	ORPHA:370968
HP:0002465	Poor speech	7337	UBE3A	ORPHA:98794
HP:0002465	Poor speech	7337	UBE3A	ORPHA:98795
HP:0002465	Poor speech	7337	UBE3A	ORPHA:411515
HP:0002465	Poor speech	4948	OCA2	ORPHA:98794
HP:0002465	Poor speech	10559	SLC35A1	OMIM:603585
HP:0002465	Poor speech	56992	KIF15	ORPHA:261323
HP:0002465	Poor speech	51132	RLIM	OMIM:300978
HP:0002465	Poor speech	818	CAMK2G	OMIM:618522
HP:0002465	Poor speech	51116	MRPS2	OMIM:617950
HP:0002465	Poor speech	55572	FOXRED1	OMIM:618241
HP:0002465	Poor speech	80224	NUBPL	OMIM:618242
HP:0002465	Poor speech	8831	SYNGAP1	ORPHA:544254
HP:0002465	Poor speech	5119	CHMP1A	OMIM:614961
HP:0002465	Poor speech	1757	SARDH	ORPHA:3129
HP:0002465	Poor speech	10381	TUBB3	ORPHA:300570
HP:0002465	Poor speech	7436	VLDLR	OMIM:224050
HP:0002465	Poor speech	7994	KAT6A	ORPHA:457193
HP:0002465	Poor speech	81857	MED25	ORPHA:464738
HP:0002465	Poor speech	93986	FOXP2	ORPHA:209908
HP:0002465	Poor speech	51079	NDUFA13	OMIM:618249
HP:0002465	Poor speech	93627	TBCK	OMIM:616900
HP:0002465	Poor speech	4137	MAPT	ORPHA:240112
HP:0002465	Poor speech	4137	MAPT	ORPHA:275864
HP:0002465	Poor speech	29920	PYCR2	ORPHA:481152
HP:0002465	Poor speech	116442	RAB39B	OMIM:311510
HP:0002465	Poor speech	259232	NALCN	OMIM:615419
HP:0002465	Poor speech	23389	MED13L	ORPHA:369891
HP:0002465	Poor speech	23389	MED13L	OMIM:616789
HP:0002465	Poor speech	83480	PUS3	ORPHA:488627
HP:0002465	Poor speech	2626	GATA4	ORPHA:251071
HP:0002465	Poor speech	56776	FMN2	OMIM:616193
HP:0002465	Poor speech	7319	UBE2A	OMIM:300860
HP:0002465	Poor speech	7319	UBE2A	ORPHA:163956
HP:0002465	Poor speech	1605	DAG1	ORPHA:280333
HP:0002465	Poor speech	9839	ZEB2	ORPHA:261552
HP:0002465	Poor speech	9839	ZEB2	ORPHA:261537
HP:0002465	Poor speech	1193	CLIC2	ORPHA:324410
HP:0002465	Poor speech	10297	APC2	OMIM:617169
HP:0002465	Poor speech	5283	PIGH	OMIM:618010
HP:0002465	Poor speech	4700	NDUFA6	OMIM:618253
HP:0002465	Poor speech	2257	FGF12	OMIM:617166
HP:0002465	Poor speech	3340	NDST1	OMIM:616116
HP:0002465	Poor speech	23152	CIC	OMIM:617600
HP:0002465	Poor speech	1729	DIAPH1	OMIM:616632
HP:0002465	Poor speech	84342	COG8	ORPHA:95428
HP:0002465	Poor speech	28514	DLL1	ORPHA:93926
HP:0002465	Poor speech	28514	DLL1	ORPHA:93924
HP:0002465	Poor speech	28514	DLL1	ORPHA:93925
HP:0002465	Poor speech	28514	DLL1	ORPHA:220386
HP:0002465	Poor speech	2253	FGF8	ORPHA:93926
HP:0002465	Poor speech	2253	FGF8	ORPHA:93924
HP:0002465	Poor speech	2253	FGF8	ORPHA:93925
HP:0002465	Poor speech	2253	FGF8	ORPHA:220386
HP:0002465	Poor speech	6496	SIX3	ORPHA:93926
HP:0002465	Poor speech	6496	SIX3	ORPHA:93924
HP:0002465	Poor speech	6496	SIX3	ORPHA:93925
HP:0002465	Poor speech	6496	SIX3	ORPHA:220386
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93926
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93924
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93925
HP:0002465	Poor speech	7050	TGIF1	ORPHA:220386
HP:0002465	Poor speech	4838	NODAL	ORPHA:93926
HP:0002465	Poor speech	4838	NODAL	ORPHA:93924
HP:0002465	Poor speech	4838	NODAL	ORPHA:93925
HP:0002465	Poor speech	4838	NODAL	ORPHA:220386
HP:0002465	Poor speech	6469	SHH	ORPHA:93926
HP:0002465	Poor speech	6469	SHH	ORPHA:93924
HP:0002465	Poor speech	6469	SHH	ORPHA:93925
HP:0002465	Poor speech	6469	SHH	ORPHA:220386
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93926
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93924
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93925
HP:0002465	Poor speech	7546	ZIC2	ORPHA:220386
HP:0002465	Poor speech	6491	STIL	ORPHA:93926
HP:0002465	Poor speech	6491	STIL	ORPHA:93924
HP:0002465	Poor speech	6491	STIL	ORPHA:93925
HP:0002465	Poor speech	6491	STIL	ORPHA:220386
HP:0002465	Poor speech	2619	GAS1	ORPHA:93926
HP:0002465	Poor speech	2619	GAS1	ORPHA:93924
HP:0002465	Poor speech	2619	GAS1	ORPHA:93925
HP:0002465	Poor speech	2619	GAS1	ORPHA:220386
HP:0002465	Poor speech	84976	DISP1	ORPHA:93926
HP:0002465	Poor speech	84976	DISP1	ORPHA:93924
HP:0002465	Poor speech	84976	DISP1	ORPHA:93925
HP:0002465	Poor speech	84976	DISP1	ORPHA:220386
HP:0002465	Poor speech	2736	GLI2	ORPHA:93926
HP:0002465	Poor speech	2736	GLI2	ORPHA:93924
HP:0002465	Poor speech	2736	GLI2	ORPHA:93925
HP:0002465	Poor speech	2736	GLI2	ORPHA:220386
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93926
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93924
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93925
HP:0002465	Poor speech	8928	FOXH1	ORPHA:220386
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93926
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93924
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93925
HP:0002465	Poor speech	5727	PTCH1	ORPHA:220386
HP:0002465	Poor speech	50937	CDON	ORPHA:93926
HP:0002465	Poor speech	50937	CDON	ORPHA:93924
HP:0002465	Poor speech	50937	CDON	ORPHA:93925
HP:0002465	Poor speech	50937	CDON	ORPHA:220386
HP:0002465	Poor speech	8635	RNASET2	OMIM:612951
HP:0002465	Poor speech	84300	UQCC2	OMIM:615824
HP:0002465	Poor speech	2260	FGFR1	ORPHA:93924
HP:0002465	Poor speech	2260	FGFR1	ORPHA:220386
HP:0002465	Poor speech	23007	PLCH1	ORPHA:93925
HP:0002465	Poor speech	10735	STAG2	ORPHA:93925
HP:0002465	Poor speech	10735	STAG2	ORPHA:220386
HP:0002465	Poor speech	10382	TUBB4A	OMIM:612438
HP:0002465	Poor speech	1499	CTNNB1	ORPHA:404473
HP:0002465	Poor speech	11212	PLPBP	OMIM:617290
HP:0002465	Poor speech	388662	SLC6A17	ORPHA:457212
HP:0002465	Poor speech	5063	PAK3	OMIM:300558
HP:0002465	Poor speech	8905	AP1S2	ORPHA:85335
HP:0002465	Poor speech	163786	SASS6	OMIM:616402
HP:0002465	Poor speech	998	CDC42	ORPHA:487796
HP:0002465	Poor speech	9894	TELO2	ORPHA:488642
HP:0002465	Poor speech	4983	OPHN1	ORPHA:137831
HP:0002465	Poor speech	285175	UNC80	OMIM:616801
HP:0002465	Poor speech	85440	DOCK7	ORPHA:411986
HP:0002465	Poor speech	5590	PRKCZ	ORPHA:1606
HP:0002465	Poor speech	2563	GABRD	ORPHA:1606
HP:0002465	Poor speech	23013	SPEN	ORPHA:1606
HP:0002465	Poor speech	8510	MMP23B	ORPHA:1606
HP:0002465	Poor speech	7798	LUZP1	ORPHA:1606
HP:0002465	Poor speech	6497	SKI	ORPHA:1606
HP:0002465	Poor speech	10630	PDPN	ORPHA:1606
HP:0002465	Poor speech	3339	HSPG2	ORPHA:1606
HP:0002465	Poor speech	10277	UBE4B	ORPHA:1606
HP:0002465	Poor speech	8514	KCNAB2	ORPHA:1606
HP:0002465	Poor speech	473	RERE	ORPHA:1606
HP:0002465	Poor speech	63976	PRDM16	ORPHA:1606
HP:0002465	Poor speech	54897	CASZ1	ORPHA:1606
HP:0002465	Poor speech	10128	LRPPRC	ORPHA:70472
HP:0002465	Poor speech	26047	CNTNAP2	ORPHA:163681
HP:0002465	Poor speech	26047	CNTNAP2	OMIM:610042
HP:0002465	Poor speech	1737	DLAT	OMIM:245348
HP:0002465	Poor speech	55210	ATAD3A	ORPHA:496790
HP:0002465	Poor speech	7204	TRIO	OMIM:617061
HP:0002465	Poor speech	7204	TRIO	ORPHA:476126
HP:0002465	Poor speech	6857	SYT1	ORPHA:522077
HP:0002465	Poor speech	5058	PAK1	OMIM:618158
HP:0002465	Poor speech	2232	FDXR	ORPHA:543470
HP:0002465	Poor speech	28952	CCDC22	OMIM:300963
HP:0002465	Poor speech	81887	LAS1L	ORPHA:3459
HP:0002465	Poor speech	55869	HDAC8	ORPHA:3459
HP:0002465	Poor speech	57570	TRMT5	OMIM:616539
HP:0002465	Poor speech	23096	IQSEC2	OMIM:309530
HP:0002465	Poor speech	54112	GPR88	OMIM:616939
HP:0002465	Poor speech	93587	TRMT10A	ORPHA:391408
HP:0002465	Poor speech	84919	PPP1R15B	ORPHA:391408
HP:0002465	Poor speech	55691	FRMD4A	ORPHA:466688
HP:0002465	Poor speech	23314	SATB2	ORPHA:576283
HP:0002465	Poor speech	10717	AP4B1	ORPHA:280763
HP:0002465	Poor speech	9179	AP4M1	ORPHA:280763
HP:0002465	Poor speech	11154	AP4S1	ORPHA:280763
HP:0002465	Poor speech	23431	AP4E1	ORPHA:280763
HP:0002465	Poor speech	4841	NONO	ORPHA:466791
HP:0002465	Poor speech	23545	ATP6V0A2	ORPHA:357074
HP:0002465	Poor speech	523	ATP6V1A	ORPHA:357074
HP:0002465	Poor speech	529	ATP6V1E1	ORPHA:357074
HP:0002465	Poor speech	5528	PPP2R5D	ORPHA:457279
HP:0002465	Poor speech	55084	SOBP	OMIM:613671
HP:0002465	Poor speech	476	ATP1A1	ORPHA:564178
HP:0002465	Poor speech	2990	GUSB	OMIM:253220
HP:0002465	Poor speech	9928	KIF14	OMIM:617914
HP:0002465	Poor speech	5879	RAC1	ORPHA:500159
HP:0002465	Poor speech	162417	NAGS	ORPHA:927
HP:0002465	Poor speech	3458	IFNG	ORPHA:805
HP:0002465	Poor speech	7248	TSC1	ORPHA:805
HP:0002465	Poor speech	7249	TSC2	ORPHA:805
HP:0002465	Poor speech	284058	KANSL1	OMIM:610443
HP:0002465	Poor speech	11043	MID2	OMIM:300928
HP:0002465	Poor speech	9757	KMT2B	OMIM:619934
HP:0002465	Poor speech	64116	SLC39A8	ORPHA:468699
HP:0002465	Poor speech	54936	ADPRS	OMIM:618170
HP:0002465	Poor speech	6595	SMARCA2	OMIM:601358
HP:0002465	Poor speech	26100	WIPI2	OMIM:618453
HP:0002465	Poor speech	80704	SLC19A3	ORPHA:263410
HP:0002465	Poor speech	8295	TRRAP	OMIM:618454
HP:0002465	Poor speech	1968	EIF2S3	OMIM:300148
HP:0002465	Poor speech	341208	HEPHL1	OMIM:261990
HP:0002465	Poor speech	4281	MID1	ORPHA:2745
HP:0002465	Poor speech	6878	TAF6	OMIM:617126
HP:0002465	Poor speech	25978	CHMP2B	ORPHA:275864
HP:0002465	Poor speech	5663	PSEN1	ORPHA:275864
HP:0002465	Poor speech	2896	GRN	ORPHA:275864
HP:0002465	Poor speech	54664	TMEM106B	ORPHA:275864
HP:0002465	Poor speech	8878	SQSTM1	ORPHA:275864
HP:0002465	Poor speech	54209	TREM2	ORPHA:275864
HP:0002465	Poor speech	7415	VCP	ORPHA:275864
HP:0002465	Poor speech	5518	PPP2R1A	ORPHA:457284
HP:0002465	Poor speech	6638	SNRPN	ORPHA:411515
HP:0002465	Poor speech	57194	ATP10A	ORPHA:411515
HP:0002465	Poor speech	23516	SLC39A14	ORPHA:521406
HP:0002465	Poor speech	54808	DYM	ORPHA:239
HP:0001265	Hyporeflexia	2137	EXTL3	ORPHA:508533
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:618184
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:180800
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:118200
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:145900
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607677
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607791
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607736
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:118300
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:180800
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:101081
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:118220
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:145900
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:162500
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:98916
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:640
HP:0001265	Hyporeflexia	8506	CNTNAP1	OMIM:618186
HP:0001265	Hyporeflexia	5393	EXOSC9	OMIM:618065
HP:0001265	Hyporeflexia	5393	EXOSC9	ORPHA:2254
HP:0001265	Hyporeflexia	8518	ELP1	ORPHA:1764
HP:0001265	Hyporeflexia	8518	ELP1	OMIM:223900
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:606071
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:600175
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:181405
HP:0001265	Hyporeflexia	22880	MORC2	OMIM:616688
HP:0001265	Hyporeflexia	22880	MORC2	OMIM:619090
HP:0001265	Hyporeflexia	23334	SZT2	OMIM:615476
HP:0001265	Hyporeflexia	23334	SZT2	ORPHA:442835
HP:0001265	Hyporeflexia	50717	DCAF8	OMIM:610100
HP:0001265	Hyporeflexia	400916	CHCHD10	OMIM:615911
HP:0001265	Hyporeflexia	400916	CHCHD10	ORPHA:275872
HP:0001265	Hyporeflexia	400916	CHCHD10	OMIM:615048
HP:0001265	Hyporeflexia	400916	CHCHD10	ORPHA:276435
HP:0001265	Hyporeflexia	19	ABCA1	OMIM:205400
HP:0001265	Hyporeflexia	54820	NDE1	ORPHA:2177
HP:0001265	Hyporeflexia	4747	NEFL	ORPHA:99939
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:607684
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:607734
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:617882
HP:0001265	Hyporeflexia	2521	FUS	ORPHA:275872
HP:0001265	Hyporeflexia	2521	FUS	OMIM:608030
HP:0001265	Hyporeflexia	8878	SQSTM1	ORPHA:275872
HP:0001265	Hyporeflexia	8878	SQSTM1	OMIM:616437
HP:0001265	Hyporeflexia	7415	VCP	ORPHA:275872
HP:0001265	Hyporeflexia	23435	TARDBP	ORPHA:275872
HP:0001265	Hyporeflexia	29110	TBK1	ORPHA:275872
HP:0001265	Hyporeflexia	29110	TBK1	OMIM:616439
HP:0001265	Hyporeflexia	51343	FZR1	OMIM:620145
HP:0001265	Hyporeflexia	51343	FZR1	ORPHA:442835
HP:0001265	Hyporeflexia	2731	GLDC	OMIM:605899
HP:0001265	Hyporeflexia	275	AMT	OMIM:605899
HP:0001265	Hyporeflexia	7879	RAB7A	OMIM:600882
HP:0001265	Hyporeflexia	5660	PSAP	OMIM:249900
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309271
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309263
HP:0001265	Hyporeflexia	5660	PSAP	OMIM:611722
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309256
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:206436
HP:0001265	Hyporeflexia	4535	MT-ND1	ORPHA:255210
HP:0001265	Hyporeflexia	4536	MT-ND2	ORPHA:255210
HP:0001265	Hyporeflexia	4537	MT-ND3	ORPHA:255210
HP:0001265	Hyporeflexia	4538	MT-ND4	ORPHA:255210
HP:0001265	Hyporeflexia	4567	MT-TL1	ORPHA:255210
HP:0001265	Hyporeflexia	4578	MT-TW	ORPHA:255210
HP:0001265	Hyporeflexia	4577	MT-TV	ORPHA:255210
HP:0001265	Hyporeflexia	4508	MT-ATP6	ORPHA:255210
HP:0001265	Hyporeflexia	4540	MT-ND5	ORPHA:255210
HP:0001265	Hyporeflexia	4541	MT-ND6	ORPHA:255210
HP:0001265	Hyporeflexia	4566	MT-TK	ORPHA:255210
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171436
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171433
HP:0001265	Hyporeflexia	58	ACTA1	OMIM:161800
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171439
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:97244
HP:0001265	Hyporeflexia	58	ACTA1	OMIM:616852
HP:0001265	Hyporeflexia	7169	TPM2	ORPHA:171436
HP:0001265	Hyporeflexia	7169	TPM2	ORPHA:171439
HP:0001265	Hyporeflexia	7169	TPM2	OMIM:609285
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171436
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171433
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171439
HP:0001265	Hyporeflexia	4703	NEB	OMIM:256030
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171436
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171433
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171439
HP:0001265	Hyporeflexia	56203	LMOD3	ORPHA:171436
HP:0001265	Hyporeflexia	1073	CFL2	ORPHA:171436
HP:0001265	Hyporeflexia	538	ATP7A	OMIM:300489
HP:0001265	Hyporeflexia	7170	TPM3	ORPHA:171433
HP:0001265	Hyporeflexia	7170	TPM3	ORPHA:171439
HP:0001265	Hyporeflexia	6576	SLC25A1	OMIM:618197
HP:0001265	Hyporeflexia	6576	SLC25A1	ORPHA:98914
HP:0001265	Hyporeflexia	6311	ATXN2	OMIM:183090
HP:0001265	Hyporeflexia	6311	ATXN2	ORPHA:98756
HP:0001265	Hyporeflexia	6335	SCN9A	OMIM:243000
HP:0001265	Hyporeflexia	6335	SCN9A	OMIM:201300
HP:0001265	Hyporeflexia	65082	VPS33A	OMIM:617303
HP:0001265	Hyporeflexia	65082	VPS33A	ORPHA:505248
HP:0001265	Hyporeflexia	84466	MEGF10	OMIM:614399
HP:0001265	Hyporeflexia	2314	FLII	ORPHA:819
HP:0001265	Hyporeflexia	23096	IQSEC2	ORPHA:819
HP:0001265	Hyporeflexia	10743	RAI1	ORPHA:819
HP:0001265	Hyporeflexia	10743	RAI1	OMIM:182290
HP:0001265	Hyporeflexia	10522	DEAF1	ORPHA:819
HP:0001265	Hyporeflexia	3508	IGHMBP2	OMIM:604320
HP:0001265	Hyporeflexia	3508	IGHMBP2	OMIM:616155
HP:0001265	Hyporeflexia	55768	NGLY1	ORPHA:404454
HP:0001265	Hyporeflexia	55768	NGLY1	OMIM:615273
HP:0001265	Hyporeflexia	81846	SBF2	OMIM:604563
HP:0001265	Hyporeflexia	79158	GNPTAB	OMIM:252500
HP:0001265	Hyporeflexia	57231	SNX14	ORPHA:397709
HP:0001265	Hyporeflexia	57231	SNX14	OMIM:616354
HP:0001265	Hyporeflexia	5189	PEX1	OMIM:214100
HP:0001265	Hyporeflexia	5189	PEX1	ORPHA:3220
HP:0001265	Hyporeflexia	100996717	NOTCH2NLC	OMIM:603472
HP:0001265	Hyporeflexia	100996717	NOTCH2NLC	OMIM:619473
HP:0001265	Hyporeflexia	7253	TSHR	ORPHA:90673
HP:0001265	Hyporeflexia	4625	MYH7	OMIM:160500
HP:0001265	Hyporeflexia	7252	TSHB	ORPHA:90674
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309271
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309263
HP:0001265	Hyporeflexia	410	ARSA	OMIM:250100
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309256
HP:0001265	Hyporeflexia	7259	TSPYL1	ORPHA:168593
HP:0001265	Hyporeflexia	10559	SLC35A1	OMIM:603585
HP:0001265	Hyporeflexia	60482	SLC5A7	OMIM:158580
HP:0001265	Hyporeflexia	60482	SLC5A7	ORPHA:98914
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300695
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300718
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300717
HP:0001265	Hyporeflexia	2892	GRIA3	OMIM:300699
HP:0001265	Hyporeflexia	2892	GRIA3	ORPHA:364028
HP:0001265	Hyporeflexia	1351	COX8A	OMIM:619059
HP:0001265	Hyporeflexia	4358	MPV17	OMIM:618400
HP:0001265	Hyporeflexia	4358	MPV17	OMIM:256810
HP:0001265	Hyporeflexia	55154	MSTO1	OMIM:617675
HP:0001265	Hyporeflexia	55154	MSTO1	ORPHA:502423
HP:0001265	Hyporeflexia	50484	RRM2B	OMIM:613077
HP:0001265	Hyporeflexia	50484	RRM2B	ORPHA:254892
HP:0001265	Hyporeflexia	22954	TRIM32	OMIM:254110
HP:0001265	Hyporeflexia	55157	DARS2	ORPHA:137898
HP:0001265	Hyporeflexia	55157	DARS2	OMIM:611105
HP:0001265	Hyporeflexia	311	ANXA11	OMIM:619733
HP:0001265	Hyporeflexia	93627	TBCK	OMIM:616900
HP:0001265	Hyporeflexia	5238	PGM3	OMIM:615816
HP:0001265	Hyporeflexia	2074	ERCC6	OMIM:278800
HP:0001265	Hyporeflexia	2332	FMR1	ORPHA:93256
HP:0001265	Hyporeflexia	2332	FMR1	OMIM:300623
HP:0001265	Hyporeflexia	7276	TTR	OMIM:105210
HP:0001265	Hyporeflexia	55149	MTPAP	ORPHA:254343
HP:0001265	Hyporeflexia	55703	POLR3B	OMIM:619742
HP:0001265	Hyporeflexia	83636	C19orf12	OMIM:614298
HP:0001265	Hyporeflexia	83636	C19orf12	OMIM:615043
HP:0001265	Hyporeflexia	2903	GRIN2A	ORPHA:289266
HP:0001265	Hyporeflexia	54872	PIGG	ORPHA:488635
HP:0001265	Hyporeflexia	54872	PIGG	OMIM:616917
HP:0001265	Hyporeflexia	246243	RNASEH1	OMIM:616479
HP:0001265	Hyporeflexia	55526	DHTKD1	OMIM:615025
HP:0001265	Hyporeflexia	26090	ABHD12	OMIM:612674
HP:0001265	Hyporeflexia	3735	KARS1	OMIM:613641
HP:0001265	Hyporeflexia	11284	PNKP	OMIM:613402
HP:0001265	Hyporeflexia	11284	PNKP	OMIM:605589
HP:0001265	Hyporeflexia	54840	APTX	OMIM:208920
HP:0001265	Hyporeflexia	79731	NARS2	OMIM:616239
HP:0001265	Hyporeflexia	2218	FKTN	OMIM:611588
HP:0001265	Hyporeflexia	2218	FKTN	ORPHA:899
HP:0001265	Hyporeflexia	3737	KCNA2	ORPHA:442835
HP:0001265	Hyporeflexia	1759	DNM1	ORPHA:442835
HP:0001265	Hyporeflexia	8120	AP3B2	ORPHA:442835
HP:0001265	Hyporeflexia	8120	AP3B2	OMIM:617276
HP:0001265	Hyporeflexia	523	ATP6V1A	ORPHA:442835
HP:0001265	Hyporeflexia	10991	SLC38A3	ORPHA:442835
HP:0001265	Hyporeflexia	22906	TRAK1	ORPHA:442835
HP:0001265	Hyporeflexia	2566	GABRG2	ORPHA:442835
HP:0001265	Hyporeflexia	1917	EEF1A2	ORPHA:442835
HP:0001265	Hyporeflexia	2561	GABRB2	ORPHA:442835
HP:0001265	Hyporeflexia	8831	SYNGAP1	ORPHA:442835
HP:0001265	Hyporeflexia	7532	YWHAG	ORPHA:442835
HP:0001265	Hyporeflexia	79876	UBA5	ORPHA:442835
HP:0001265	Hyporeflexia	6328	SCN3A	ORPHA:442835
HP:0001265	Hyporeflexia	2558	GABRA5	ORPHA:442835
HP:0001265	Hyporeflexia	781	CACNA2D1	ORPHA:442835
HP:0001265	Hyporeflexia	2906	GRIN2D	ORPHA:442835
HP:0001265	Hyporeflexia	116150	NUS1	ORPHA:442835
HP:0001265	Hyporeflexia	10659	CELF2	ORPHA:442835
HP:0001265	Hyporeflexia	774	CACNA1B	ORPHA:442835
HP:0001265	Hyporeflexia	1213	CLTC	ORPHA:442835
HP:0001265	Hyporeflexia	51741	WWOX	ORPHA:442835
HP:0001265	Hyporeflexia	51741	WWOX	ORPHA:284282
HP:0001265	Hyporeflexia	51741	WWOX	OMIM:614322
HP:0001265	Hyporeflexia	51412	ACTL6B	ORPHA:442835
HP:0001265	Hyporeflexia	348980	HCN1	ORPHA:442835
HP:0001265	Hyporeflexia	6506	SLC1A2	ORPHA:442835
HP:0001265	Hyporeflexia	8867	SYNJ1	ORPHA:442835
HP:0001265	Hyporeflexia	8867	SYNJ1	ORPHA:391411
HP:0001265	Hyporeflexia	2258	FGF13	ORPHA:442835
HP:0001265	Hyporeflexia	477	ATP1A2	ORPHA:442835
HP:0001265	Hyporeflexia	3745	KCNB1	ORPHA:442835
HP:0001265	Hyporeflexia	284111	SLC13A5	ORPHA:442835
HP:0001265	Hyporeflexia	25977	NECAP1	ORPHA:442835
HP:0001265	Hyporeflexia	16	AARS1	ORPHA:442835
HP:0001265	Hyporeflexia	16	AARS1	OMIM:613287
HP:0001265	Hyporeflexia	6334	SCN8A	ORPHA:442835
HP:0001265	Hyporeflexia	22866	CNKSR2	ORPHA:442835
HP:0001265	Hyporeflexia	9568	GABBR2	ORPHA:442835
HP:0001265	Hyporeflexia	2555	GABRA2	ORPHA:442835
HP:0001265	Hyporeflexia	55152	DALRD3	ORPHA:442835
HP:0001265	Hyporeflexia	773	CACNA1A	ORPHA:442835
HP:0001265	Hyporeflexia	26999	CYFIP2	ORPHA:442835
HP:0001265	Hyporeflexia	4915	NTRK2	ORPHA:442835
HP:0001265	Hyporeflexia	25973	PARS2	ORPHA:442835
HP:0001265	Hyporeflexia	23097	CDK19	ORPHA:442835
HP:0001265	Hyporeflexia	64801	ARV1	ORPHA:442835
HP:0001265	Hyporeflexia	79947	DHDDS	ORPHA:442835
HP:0001265	Hyporeflexia	2257	FGF12	ORPHA:442835
HP:0001265	Hyporeflexia	5530	PPP3CA	ORPHA:442835
HP:0001265	Hyporeflexia	478	ATP1A3	ORPHA:442835
HP:0001265	Hyporeflexia	9896	FIG4	OMIM:611228
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:601152
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:609260
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:617087
HP:0001265	Hyporeflexia	5373	PMM2	OMIM:212065
HP:0001265	Hyporeflexia	5373	PMM2	ORPHA:79318
HP:0001265	Hyporeflexia	121512	FGD4	OMIM:609311
HP:0001265	Hyporeflexia	7915	ALDH5A1	OMIM:271980
HP:0001265	Hyporeflexia	2313	FLI1	ORPHA:370348
HP:0001265	Hyporeflexia	54332	GDAP1	OMIM:608340
HP:0001265	Hyporeflexia	54332	GDAP1	OMIM:214400
HP:0001265	Hyporeflexia	3752	KCND3	ORPHA:98772
HP:0001265	Hyporeflexia	3752	KCND3	OMIM:607346
HP:0001265	Hyporeflexia	1798	DPAGT1	ORPHA:86309
HP:0001265	Hyporeflexia	10801	SEPTIN9	OMIM:162100
HP:0001265	Hyporeflexia	23299	BICD2	ORPHA:363454
HP:0001265	Hyporeflexia	1187	CLCNKA	OMIM:613090
HP:0001265	Hyporeflexia	1188	CLCNKB	OMIM:613090
HP:0001265	Hyporeflexia	55773	TBC1D23	OMIM:617695
HP:0001265	Hyporeflexia	2318	FLNC	OMIM:614065
HP:0001265	Hyporeflexia	5626	PROP1	ORPHA:226307
HP:0001265	Hyporeflexia	89884	LHX4	ORPHA:226307
HP:0001265	Hyporeflexia	8022	LHX3	ORPHA:226307
HP:0001265	Hyporeflexia	5449	POU1F1	ORPHA:226307
HP:0001265	Hyporeflexia	8820	HESX1	ORPHA:226307
HP:0001265	Hyporeflexia	55699	IARS2	OMIM:616007
HP:0001265	Hyporeflexia	59335	PRDM12	OMIM:616488
HP:0001265	Hyporeflexia	4744	NEFH	OMIM:616924
HP:0001265	Hyporeflexia	5828	PEX2	OMIM:614867
HP:0001265	Hyporeflexia	11340	EXOSC8	ORPHA:2254
HP:0001265	Hyporeflexia	23287	AGTPBP1	ORPHA:2254
HP:0001265	Hyporeflexia	51010	EXOSC3	ORPHA:2254
HP:0001265	Hyporeflexia	7443	VRK1	ORPHA:2254
HP:0001265	Hyporeflexia	91137	SLC25A46	ORPHA:2254
HP:0001265	Hyporeflexia	91137	SLC25A46	OMIM:616505
HP:0001265	Hyporeflexia	79753	SNIP1	OMIM:614501
HP:0001265	Hyporeflexia	4191	MDH2	OMIM:617339
HP:0001265	Hyporeflexia	5190	PEX6	ORPHA:3220
HP:0001265	Hyporeflexia	23345	SYNE1	ORPHA:319332
HP:0001265	Hyporeflexia	23345	SYNE1	OMIM:618484
HP:0001265	Hyporeflexia	54499	TMCO1	OMIM:213980
HP:0001265	Hyporeflexia	100134444	KCNJ18	ORPHA:79102
HP:0001265	Hyporeflexia	100134444	KCNJ18	OMIM:613239
HP:0001265	Hyporeflexia	2556	GABRA3	ORPHA:79102
HP:0001265	Hyporeflexia	779	CACNA1S	ORPHA:79102
HP:0001265	Hyporeflexia	6606	SMN1	OMIM:253400
HP:0001265	Hyporeflexia	6607	SMN2	OMIM:253400
HP:0001265	Hyporeflexia	6609	SMPD1	OMIM:257200
HP:0001265	Hyporeflexia	92667	MGME1	ORPHA:352447
HP:0001265	Hyporeflexia	92667	MGME1	OMIM:615084
HP:0001265	Hyporeflexia	1822	ATN1	ORPHA:101
HP:0001265	Hyporeflexia	10908	PNPLA6	OMIM:215470
HP:0001265	Hyporeflexia	25814	ATXN10	ORPHA:98761
HP:0001265	Hyporeflexia	4311	MME	ORPHA:497764
HP:0001265	Hyporeflexia	4311	MME	OMIM:617018
HP:0001265	Hyporeflexia	4311	MME	OMIM:617017
HP:0001265	Hyporeflexia	23175	LPIN1	OMIM:268200
HP:0001265	Hyporeflexia	4669	NAGLU	OMIM:616491
HP:0001265	Hyporeflexia	23095	KIF1B	OMIM:118210
HP:0001265	Hyporeflexia	6261	RYR1	OMIM:117000
HP:0001265	Hyporeflexia	6261	RYR1	ORPHA:324581
HP:0001265	Hyporeflexia	59336	PRDM13	OMIM:619761
HP:0001265	Hyporeflexia	59336	PRDM13	OMIM:619909
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:616138
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:607459
HP:0001265	Hyporeflexia	56652	TWNK	ORPHA:254892
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:609286
HP:0001265	Hyporeflexia	56652	TWNK	ORPHA:70595
HP:0001265	Hyporeflexia	5192	PEX10	OMIM:614871
HP:0001265	Hyporeflexia	146227	BEAN1	ORPHA:217012
HP:0001265	Hyporeflexia	9711	RUBCN	ORPHA:404499
HP:0001265	Hyporeflexia	91949	COG7	ORPHA:79333
HP:0001265	Hyporeflexia	91949	COG7	OMIM:608779
HP:0001265	Hyporeflexia	6785	ELOVL4	ORPHA:1955
HP:0001265	Hyporeflexia	6785	ELOVL4	OMIM:133190
HP:0001265	Hyporeflexia	23065	EMC1	ORPHA:480898
HP:0001265	Hyporeflexia	23065	EMC1	OMIM:616875
HP:0001265	Hyporeflexia	6310	ATXN1	ORPHA:98755
HP:0001265	Hyporeflexia	38	ACAT1	ORPHA:134
HP:0001265	Hyporeflexia	23556	PIGN	OMIM:614080
HP:0001265	Hyporeflexia	23556	PIGN	ORPHA:280633
HP:0001265	Hyporeflexia	4677	NARS1	OMIM:619091
HP:0001265	Hyporeflexia	4677	NARS1	OMIM:619092
HP:0001265	Hyporeflexia	51651	PTRH2	OMIM:616263
HP:0001265	Hyporeflexia	5354	PLP1	OMIM:312080
HP:0001265	Hyporeflexia	339855	KY	OMIM:617114
HP:0001265	Hyporeflexia	26047	CNTNAP2	OMIM:610042
HP:0001265	Hyporeflexia	26047	CNTNAP2	ORPHA:163681
HP:0001265	Hyporeflexia	4099	MAG	ORPHA:459056
HP:0001265	Hyporeflexia	1374	CPT1A	OMIM:255120
HP:0001265	Hyporeflexia	23219	FBXO28	OMIM:619777
HP:0001265	Hyporeflexia	84665	MYPN	ORPHA:171439
HP:0001265	Hyporeflexia	390594	KBTBD13	ORPHA:171439
HP:0001265	Hyporeflexia	50628	GEMIN4	OMIM:617913
HP:0001265	Hyporeflexia	404672	GTF2H5	ORPHA:33364
HP:0001265	Hyporeflexia	833	CARS1	ORPHA:33364
HP:0001265	Hyporeflexia	2068	ERCC2	ORPHA:33364
HP:0001265	Hyporeflexia	2068	ERCC2	OMIM:278730
HP:0001265	Hyporeflexia	7737	RNF113A	ORPHA:33364
HP:0001265	Hyporeflexia	136647	MPLKIP	ORPHA:33364
HP:0001265	Hyporeflexia	6897	TARS1	ORPHA:33364
HP:0001265	Hyporeflexia	2071	ERCC3	ORPHA:33364
HP:0001265	Hyporeflexia	2961	GTF2E2	ORPHA:33364
HP:0001265	Hyporeflexia	3339	HSPG2	OMIM:255800
HP:0001265	Hyporeflexia	3339	HSPG2	ORPHA:800
HP:0001265	Hyporeflexia	51750	RTEL1	ORPHA:3322
HP:0001265	Hyporeflexia	65057	ACD	ORPHA:3322
HP:0001265	Hyporeflexia	5073	PARN	ORPHA:3322
HP:0001265	Hyporeflexia	7015	TERT	ORPHA:3322
HP:0001265	Hyporeflexia	26277	TINF2	ORPHA:3322
HP:0001265	Hyporeflexia	1736	DKC1	ORPHA:3322
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:79443
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:79444
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:94089
HP:0001265	Hyporeflexia	26353	HSPB8	OMIM:608673
HP:0001265	Hyporeflexia	3098	HK1	OMIM:605285
HP:0001265	Hyporeflexia	367	AR	ORPHA:481
HP:0001265	Hyporeflexia	367	AR	OMIM:313200
HP:0001265	Hyporeflexia	9217	VAPB	OMIM:182980
HP:0001265	Hyporeflexia	5428	POLG	OMIM:607459
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:254892
HP:0001265	Hyporeflexia	5428	POLG	OMIM:258450
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:254886
HP:0001265	Hyporeflexia	5428	POLG	OMIM:157640
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:70595
HP:0001265	Hyporeflexia	54463	RETREG1	OMIM:201300
HP:0001265	Hyporeflexia	54463	RETREG1	OMIM:613115
HP:0001265	Hyporeflexia	65125	WNK1	OMIM:201300
HP:0001265	Hyporeflexia	547	KIF1A	OMIM:201300
HP:0001265	Hyporeflexia	547	KIF1A	OMIM:614213
HP:0001265	Hyporeflexia	59345	GNB4	OMIM:615185
HP:0001265	Hyporeflexia	57505	AARS2	OMIM:614096
HP:0001265	Hyporeflexia	10159	ATP6AP2	OMIM:300423
HP:0001265	Hyporeflexia	1337	COX6A1	OMIM:616039
HP:0001265	Hyporeflexia	2583	B4GALNT1	OMIM:609195
HP:0001265	Hyporeflexia	2583	B4GALNT1	ORPHA:101006
HP:0001265	Hyporeflexia	22907	DHX30	OMIM:617804
HP:0001265	Hyporeflexia	51013	EXOSC1	OMIM:619304
HP:0001265	Hyporeflexia	81603	TRIM8	OMIM:619428
HP:0001265	Hyporeflexia	57410	SCYL1	OMIM:616719
HP:0001265	Hyporeflexia	57410	SCYL1	ORPHA:466794
HP:0001265	Hyporeflexia	339453	TMEM240	OMIM:607454
HP:0001265	Hyporeflexia	23064	SETX	OMIM:606002
HP:0001265	Hyporeflexia	1959	EGR2	OMIM:145900
HP:0001265	Hyporeflexia	57716	PRX	OMIM:145900
HP:0001265	Hyporeflexia	5830	PEX5	OMIM:616716
HP:0001265	Hyporeflexia	8803	SUCLA2	ORPHA:1933
HP:0001265	Hyporeflexia	8803	SUCLA2	OMIM:612073
HP:0001265	Hyporeflexia	1785	DNM2	OMIM:606482
HP:0001265	Hyporeflexia	2617	GARS1	OMIM:601472
HP:0001265	Hyporeflexia	8729	GBF1	OMIM:606483
HP:0001265	Hyporeflexia	291	SLC25A4	ORPHA:254892
HP:0001265	Hyporeflexia	291	SLC25A4	OMIM:617184
HP:0001265	Hyporeflexia	11232	POLG2	ORPHA:254892
HP:0001265	Hyporeflexia	9488	PIGB	OMIM:618580
HP:0001265	Hyporeflexia	57190	SELENON	ORPHA:97244
HP:0001265	Hyporeflexia	3155	HMGCL	ORPHA:20
HP:0001265	Hyporeflexia	127833	SYT2	OMIM:616040
HP:0001265	Hyporeflexia	127833	SYT2	ORPHA:98914
HP:0001265	Hyporeflexia	79705	LRRK1	OMIM:615198
HP:0001265	Hyporeflexia	5193	PEX12	OMIM:266510
HP:0001265	Hyporeflexia	124997	WDR81	OMIM:610185
HP:0001265	Hyporeflexia	7167	TPI1	OMIM:615512
HP:0001265	Hyporeflexia	1410	CRYAB	ORPHA:399058
HP:0001265	Hyporeflexia	79912	PYROXD1	OMIM:617258
HP:0001265	Hyporeflexia	51807	TUBA8	ORPHA:250972
HP:0001265	Hyporeflexia	1756	DMD	OMIM:310200
HP:0001265	Hyporeflexia	1756	DMD	OMIM:300376
HP:0001265	Hyporeflexia	85358	SHANK3	OMIM:606232
HP:0001265	Hyporeflexia	2200	FBN1	ORPHA:284979
HP:0001265	Hyporeflexia	8675	STX16	ORPHA:94089
HP:0001265	Hyporeflexia	256297	PTF1A	OMIM:609069
HP:0001265	Hyporeflexia	7555	CNBP	OMIM:602668
HP:0001265	Hyporeflexia	10397	NDRG1	OMIM:601455
HP:0001265	Hyporeflexia	57465	TBC1D24	OMIM:220500
HP:0001265	Hyporeflexia	57465	TBC1D24	ORPHA:79500
HP:0001265	Hyporeflexia	91942	NDUFAF2	OMIM:618233
HP:0001265	Hyporeflexia	7084	TK2	ORPHA:254886
HP:0001265	Hyporeflexia	7084	TK2	ORPHA:254875
HP:0001265	Hyporeflexia	23114	NFASC	OMIM:618356
HP:0001265	Hyporeflexia	5191	PEX7	OMIM:266500
HP:0001265	Hyporeflexia	5264	PHYH	OMIM:266500
HP:0001265	Hyporeflexia	116461	TSEN15	OMIM:617026
HP:0001265	Hyporeflexia	80347	COASY	OMIM:615643
HP:0001265	Hyporeflexia	50	ACO2	OMIM:614559
HP:0001265	Hyporeflexia	90678	LRSAM1	OMIM:614436
HP:0001265	Hyporeflexia	1130	LYST	OMIM:214500
HP:0001265	Hyporeflexia	84892	POMGNT2	ORPHA:899
HP:0001265	Hyporeflexia	148789	B3GALNT2	ORPHA:899
HP:0001265	Hyporeflexia	79147	FKRP	ORPHA:899
HP:0001265	Hyporeflexia	79147	FKRP	OMIM:613153
HP:0001265	Hyporeflexia	29954	POMT2	ORPHA:899
HP:0001265	Hyporeflexia	29954	POMT2	OMIM:613156
HP:0001265	Hyporeflexia	9215	LARGE1	ORPHA:899
HP:0001265	Hyporeflexia	1282	COL4A1	ORPHA:899
HP:0001265	Hyporeflexia	729920	CRPPA	ORPHA:899
HP:0001265	Hyporeflexia	10329	RXYLT1	ORPHA:899
HP:0001265	Hyporeflexia	1605	DAG1	ORPHA:899
HP:0001265	Hyporeflexia	11041	B4GAT1	ORPHA:899
HP:0001265	Hyporeflexia	10585	POMT1	ORPHA:899
HP:0001265	Hyporeflexia	84197	POMK	ORPHA:899
HP:0001265	Hyporeflexia	84197	POMK	OMIM:616094
HP:0001265	Hyporeflexia	55624	POMGNT1	ORPHA:899
HP:0001265	Hyporeflexia	4694	NDUFA1	OMIM:301020
HP:0001265	Hyporeflexia	57551	TAOK1	OMIM:619575
HP:0001265	Hyporeflexia	8888	MCM3AP	OMIM:618124
HP:0001265	Hyporeflexia	4704	NDUFA9	OMIM:618247
HP:0001265	Hyporeflexia	1621	DBH	OMIM:223360
HP:0001265	Hyporeflexia	405753	DUOXA2	ORPHA:95716
HP:0001265	Hyporeflexia	6528	SLC5A5	ORPHA:95716
HP:0001265	Hyporeflexia	7038	TG	ORPHA:95716
HP:0001265	Hyporeflexia	7173	TPO	ORPHA:95716
HP:0001265	Hyporeflexia	389434	IYD	ORPHA:95716
HP:0001265	Hyporeflexia	50506	DUOX2	ORPHA:95716
HP:0001265	Hyporeflexia	1778	DYNC1H1	OMIM:614563
HP:0001265	Hyporeflexia	1778	DYNC1H1	OMIM:614228
HP:0001265	Hyporeflexia	64856	VWA1	OMIM:619216
HP:0001265	Hyporeflexia	23203	PMPCA	OMIM:213200
HP:0001265	Hyporeflexia	3913	LAMB2	OMIM:609049
HP:0001265	Hyporeflexia	3913	LAMB2	ORPHA:98915
HP:0001265	Hyporeflexia	4361	MRE11	OMIM:604391
HP:0001265	Hyporeflexia	112812	FDX2	OMIM:251900
HP:0001265	Hyporeflexia	7809	BSND	OMIM:602522
HP:0001265	Hyporeflexia	4556	MT-TE	ORPHA:254864
HP:0001265	Hyporeflexia	55687	TRMU	ORPHA:254864
HP:0001265	Hyporeflexia	2705	GJB1	OMIM:302800
HP:0001265	Hyporeflexia	64423	INF2	OMIM:614455
HP:0001265	Hyporeflexia	7453	WARS1	OMIM:617721
HP:0001265	Hyporeflexia	5981	RFC1	OMIM:614575
HP:0001265	Hyporeflexia	6638	SNRPN	ORPHA:177907
HP:0001265	Hyporeflexia	81790	RNF170	OMIM:608984
HP:0001265	Hyporeflexia	5498	PPOX	ORPHA:79473
HP:0001265	Hyporeflexia	64374	SIL1	ORPHA:559
HP:0001265	Hyporeflexia	51763	INPP5K	ORPHA:559
HP:0001265	Hyporeflexia	9531	BAG3	OMIM:612954
HP:0001265	Hyporeflexia	4000	LMNA	OMIM:605588
HP:0001265	Hyporeflexia	81857	MED25	OMIM:605589
HP:0001265	Hyporeflexia	79784	MYH14	ORPHA:397744
HP:0001265	Hyporeflexia	65260	COA7	OMIM:618387
HP:0001265	Hyporeflexia	57003	CCDC47	OMIM:618268
HP:0001265	Hyporeflexia	2548	GAA	OMIM:232300
HP:0001265	Hyporeflexia	50846	DHH	OMIM:607080
HP:0001265	Hyporeflexia	63895	PIEZO2	OMIM:108145
HP:0001265	Hyporeflexia	526	ATP6V1B2	ORPHA:79500
HP:0001265	Hyporeflexia	7507	XPA	OMIM:278700
HP:0001265	Hyporeflexia	9829	DNAJC6	ORPHA:391411
HP:0001265	Hyporeflexia	5420	PODXL	ORPHA:391411
HP:0001265	Hyporeflexia	476	ATP1A1	OMIM:618036
HP:0001265	Hyporeflexia	5162	PDHB	OMIM:614111
HP:0001265	Hyporeflexia	54870	QRICH1	OMIM:617982
HP:0001265	Hyporeflexia	23230	VPS13A	OMIM:200150
HP:0001265	Hyporeflexia	57688	ZSWIM6	OMIM:617865
HP:0001265	Hyporeflexia	3295	HSD17B4	OMIM:233400
HP:0001265	Hyporeflexia	57570	TRMT5	OMIM:616539
HP:0001265	Hyporeflexia	4649	MYO9A	ORPHA:98914
HP:0001265	Hyporeflexia	1305	COL13A1	ORPHA:98914
HP:0001265	Hyporeflexia	1103	CHAT	ORPHA:98914
HP:0001265	Hyporeflexia	6843	VAMP1	ORPHA:98914
HP:0001265	Hyporeflexia	375790	AGRN	ORPHA:98914
HP:0001265	Hyporeflexia	6572	SLC18A3	ORPHA:98914
HP:0001265	Hyporeflexia	6616	SNAP25	ORPHA:98914
HP:0001265	Hyporeflexia	8292	COLQ	ORPHA:98915
HP:0001265	Hyporeflexia	1786	DNMT1	OMIM:614116
HP:0001265	Hyporeflexia	9499	MYOT	ORPHA:98911
HP:0001265	Hyporeflexia	6663	SOX10	OMIM:609136
HP:0001265	Hyporeflexia	9516	LITAF	OMIM:601098
HP:0001265	Hyporeflexia	9759	HDAC4	OMIM:600430
HP:0001265	Hyporeflexia	10558	SPTLC1	OMIM:162400
HP:0001265	Hyporeflexia	1716	DGUOK	OMIM:617070
HP:0001265	Hyporeflexia	2629	GBA1	ORPHA:2072
HP:0001265	Hyporeflexia	9786	KIAA0586	OMIM:616546
HP:0001265	Hyporeflexia	4038	LRP4	OMIM:616304
HP:0001265	Hyporeflexia	4724	NDUFS4	OMIM:252010
HP:0001265	Hyporeflexia	60386	SLC25A19	OMIM:613710
HP:0001265	Hyporeflexia	203190	LGI3	OMIM:620007
HP:0001265	Hyporeflexia	55005	RMND1	OMIM:614922
HP:0001265	Hyporeflexia	23533	PIK3R5	OMIM:615217
HP:0001265	Hyporeflexia	2581	GALC	ORPHA:206436
HP:0001265	Hyporeflexia	1795	DOCK3	OMIM:618292
HP:0001265	Hyporeflexia	129285	PPP1R21	OMIM:619383
HP:0001265	Hyporeflexia	60684	TRAPPC11	ORPHA:369840
HP:0001265	Hyporeflexia	9181	ARHGEF2	OMIM:617523
HP:0001265	Hyporeflexia	9131	AIFM1	OMIM:300816
HP:0001265	Hyporeflexia	87178	PNPT1	OMIM:614932
HP:0001265	Hyporeflexia	9987	HNRNPDL	OMIM:609115
HP:0001265	Hyporeflexia	246329	STAC3	OMIM:255995
HP:0001265	Hyporeflexia	65055	REEP1	OMIM:620011
HP:0001265	Hyporeflexia	3475	IFRD1	ORPHA:98771
HP:0001265	Hyporeflexia	23769	FLRT1	ORPHA:320406
HP:0001265	Hyporeflexia	64837	KLC2	ORPHA:320406
HP:0001265	Hyporeflexia	1674	DES	OMIM:601419
HP:0001265	Hyporeflexia	25923	ATL3	OMIM:615632
HP:0001265	Hyporeflexia	9517	SPTLC2	OMIM:613640
HP:0001265	Hyporeflexia	22868	FASTKD2	OMIM:618855
HP:0001265	Hyporeflexia	5582	PRKCG	ORPHA:98763
HP:0001265	Hyporeflexia	6786	STIM1	OMIM:160565
HP:0001265	Hyporeflexia	8139	GAN	OMIM:256850
HP:0001265	Hyporeflexia	81545	FBXO38	OMIM:615575
HP:0001265	Hyporeflexia	8291	DYSF	OMIM:254130
HP:0001265	Hyporeflexia	200205	IBA57	ORPHA:468661
HP:0001265	Hyporeflexia	5165	PDK3	OMIM:300905
HP:0001265	Hyporeflexia	122622	ADSS1	ORPHA:482601
HP:0001265	Hyporeflexia	3032	HADHB	ORPHA:746
HP:0001265	Hyporeflexia	3030	HADHA	ORPHA:746
HP:0001265	Hyporeflexia	11155	LDB3	ORPHA:98912
HP:0001265	Hyporeflexia	10516	FBLN5	OMIM:608895
HP:0001265	Hyporeflexia	10079	ATP9A	OMIM:620242
HP:0001265	Hyporeflexia	51	ACOX1	OMIM:618960
HP:0001265	Hyporeflexia	3315	HSPB1	OMIM:606595
HP:0001265	Hyporeflexia	8869	ST3GAL5	OMIM:609056
HP:0012680	Abnormality of the pineal gland	57104	PNPLA2	ORPHA:98908
HP:0012680	Abnormality of the pineal gland	23394	ADNP	OMIM:615873
HP:0012680	Abnormality of the pineal gland	5718	PSMD12	OMIM:617516
HP:0012680	Abnormality of the pineal gland	5718	PSMD12	ORPHA:529962
HP:0012680	Abnormality of the pineal gland	80232	WDR26	ORPHA:513456
HP:0012680	Abnormality of the pineal gland	3845	KRAS	OMIM:600268
HP:0012680	Abnormality of the pineal gland	284058	KANSL1	ORPHA:363965
HP:0012680	Abnormality of the pineal gland	284058	KANSL1	ORPHA:363958
HP:0012680	Abnormality of the pineal gland	4841	NONO	OMIM:300967
HP:0012680	Abnormality of the pineal gland	2590	GALNT2	OMIM:618885
HP:0012680	Abnormality of the pineal gland	2186	BPTF	ORPHA:529962
HP:0012680	Abnormality of the pineal gland	3643	INSR	ORPHA:769
HP:0012680	Abnormality of the pineal gland	11023	VAX1	OMIM:614402
HP:0012680	Abnormality of the pineal gland	5205	ATP8B1	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	8647	ABCB11	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	5244	ABCB4	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	9971	NR1H4	ORPHA:69665
HP:0012683	Pineal cyst	57104	PNPLA2	ORPHA:98908
HP:0012683	Pineal cyst	23394	ADNP	OMIM:615873
HP:0012683	Pineal cyst	5718	PSMD12	OMIM:617516
HP:0012683	Pineal cyst	5718	PSMD12	ORPHA:529962
HP:0012683	Pineal cyst	80232	WDR26	ORPHA:513456
HP:0012683	Pineal cyst	3845	KRAS	OMIM:600268
HP:0012683	Pineal cyst	284058	KANSL1	ORPHA:363965
HP:0012683	Pineal cyst	284058	KANSL1	ORPHA:363958
HP:0012683	Pineal cyst	4841	NONO	OMIM:300967
HP:0012683	Pineal cyst	2590	GALNT2	OMIM:618885
HP:0012683	Pineal cyst	2186	BPTF	ORPHA:529962
HP:0012684	Abnormal pineal volume	3643	INSR	ORPHA:769
HP:0012686	Increased pineal volume	3643	INSR	ORPHA:769
HP:0012687	Agenesis of pineal gland	11023	VAX1	OMIM:614402
HP:0012688	Abnormality of pineal physiology	5205	ATP8B1	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	8647	ABCB11	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	5244	ABCB4	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	9971	NR1H4	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	5205	ATP8B1	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	8647	ABCB11	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	5244	ABCB4	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	9971	NR1H4	ORPHA:69665
HP:0012681	Abnormal pineal morphology	57104	PNPLA2	ORPHA:98908
HP:0012681	Abnormal pineal morphology	23394	ADNP	OMIM:615873
HP:0012681	Abnormal pineal morphology	5718	PSMD12	OMIM:617516
HP:0012681	Abnormal pineal morphology	5718	PSMD12	ORPHA:529962
HP:0012681	Abnormal pineal morphology	80232	WDR26	ORPHA:513456
HP:0012681	Abnormal pineal morphology	3845	KRAS	OMIM:600268
HP:0012681	Abnormal pineal morphology	284058	KANSL1	ORPHA:363965
HP:0012681	Abnormal pineal morphology	284058	KANSL1	ORPHA:363958
HP:0012681	Abnormal pineal morphology	4841	NONO	OMIM:300967
HP:0012681	Abnormal pineal morphology	2590	GALNT2	OMIM:618885
HP:0012681	Abnormal pineal morphology	2186	BPTF	ORPHA:529962
HP:0012681	Abnormal pineal morphology	3643	INSR	ORPHA:769
HP:0012681	Abnormal pineal morphology	11023	VAX1	OMIM:614402
HP:0009777	Absent thumb	2188	FANCF	OMIM:603467
HP:0009777	Absent thumb	2177	FANCD2	OMIM:227646
HP:0009777	Absent thumb	2072	ERCC4	OMIM:615272
HP:0009777	Absent thumb	5889	RAD51C	OMIM:613390
HP:0009777	Absent thumb	2176	FANCC	OMIM:227645
HP:0009777	Absent thumb	10262	SF3B4	OMIM:154400
HP:0009777	Absent thumb	6910	TBX5	ORPHA:392
HP:0009777	Absent thumb	6910	TBX5	OMIM:142900
HP:0009777	Absent thumb	55120	FANCL	OMIM:614083
HP:0009777	Absent thumb	6651	SON	ORPHA:500150
HP:0009777	Absent thumb	340419	RSPO2	OMIM:618022
HP:0009777	Absent thumb	2187	FANCB	OMIM:300514
HP:0009777	Absent thumb	57167	SALL4	OMIM:147750
HP:0009777	Absent thumb	57167	SALL4	OMIM:607323
HP:0009777	Absent thumb	84464	SLX4	OMIM:613951
HP:0009777	Absent thumb	6154	RPL26	OMIM:614900
HP:0009777	Absent thumb	6154	RPL26	ORPHA:124
HP:0009777	Absent thumb	8452	CUL3	OMIM:619239
HP:0009777	Absent thumb	5718	PSMD12	OMIM:617516
HP:0009777	Absent thumb	9939	RBM8A	OMIM:274000
HP:0009777	Absent thumb	6223	RPS19	OMIM:105650
HP:0009777	Absent thumb	6223	RPS19	ORPHA:124
HP:0009777	Absent thumb	9896	FIG4	OMIM:216340
HP:0009777	Absent thumb	9896	FIG4	ORPHA:3472
HP:0009777	Absent thumb	157570	ESCO2	OMIM:268300
HP:0009777	Absent thumb	6135	RPL11	ORPHA:124
HP:0009777	Absent thumb	6138	RPL15	ORPHA:124
HP:0009777	Absent thumb	6229	RPS24	ORPHA:124
HP:0009777	Absent thumb	6125	RPL5	ORPHA:124
HP:0009777	Absent thumb	6204	RPS10	ORPHA:124
HP:0009777	Absent thumb	6224	RPS20	ORPHA:124
HP:0009777	Absent thumb	6165	RPL35A	ORPHA:124
HP:0009777	Absent thumb	2623	GATA1	ORPHA:124
HP:0009777	Absent thumb	6232	RPS27	ORPHA:124
HP:0009777	Absent thumb	6231	RPS26	ORPHA:124
HP:0009777	Absent thumb	11224	RPL35	ORPHA:124
HP:0009777	Absent thumb	6160	RPL31	ORPHA:124
HP:0009777	Absent thumb	6218	RPS17	ORPHA:124
HP:0009777	Absent thumb	6201	RPS7	ORPHA:124
HP:0009777	Absent thumb	6155	RPL27	ORPHA:124
HP:0009777	Absent thumb	6210	RPS15A	ORPHA:124
HP:0009777	Absent thumb	90121	TSR2	ORPHA:124
HP:0009777	Absent thumb	6141	RPL18	ORPHA:124
HP:0009777	Absent thumb	6235	RPS29	ORPHA:124
HP:0009777	Absent thumb	6234	RPS28	ORPHA:124
HP:0009777	Absent thumb	51816	ADA2	ORPHA:124
HP:0009777	Absent thumb	9401	RECQL4	OMIM:218600
HP:0009777	Absent thumb	9401	RECQL4	OMIM:266280
HP:0009777	Absent thumb	55697	VAC14	ORPHA:3472
HP:0009777	Absent thumb	2178	FANCE	OMIM:600901
HP:0009777	Absent thumb	54101	RIPK4	OMIM:263650
HP:0009777	Absent thumb	54101	RIPK4	ORPHA:1234
HP:0009777	Absent thumb	55159	RFWD3	OMIM:617784
HP:0009777	Absent thumb	5888	RAD51	OMIM:617244
HP:0009777	Absent thumb	2175	FANCA	OMIM:227650
HP:0009777	Absent thumb	55215	FANCI	OMIM:609053
HP:0009777	Absent thumb	7516	XRCC2	OMIM:617247
HP:0009777	Absent thumb	2263	FGFR2	ORPHA:2363
HP:0009777	Absent thumb	2261	FGFR3	ORPHA:2363
HP:0009777	Absent thumb	2255	FGF10	ORPHA:2363
HP:0009777	Absent thumb	29980	DONSON	OMIM:251230
HP:0009626	Interphalangeal thumb joint contracture	1889	ECE1	OMIM:613870
HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	2263	FGFR2	OMIM:149730
HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0002470	Nonprogressive cerebellar ataxia	22	ABCB7	OMIM:301310
HP:0002470	Nonprogressive cerebellar ataxia	133686	NADK2	ORPHA:431361
HP:0002470	Nonprogressive cerebellar ataxia	131118	DNAJC19	OMIM:610198
HP:0002470	Nonprogressive cerebellar ataxia	3708	ITPR1	OMIM:117360
HP:0002470	Nonprogressive cerebellar ataxia	492	ATP2B3	ORPHA:314978
HP:0002470	Nonprogressive cerebellar ataxia	5457	POU4F1	ORPHA:314647
HP:0002470	Nonprogressive cerebellar ataxia	23261	CAMTA1	ORPHA:314647
HP:0002470	Nonprogressive cerebellar ataxia	85300	ATCAY	ORPHA:94122
HP:0002470	Nonprogressive cerebellar ataxia	55691	FRMD4A	ORPHA:466688
HP:0002470	Nonprogressive cerebellar ataxia	55280	CWF19L1	ORPHA:453521
HP:0002474	Expressive language delay	79158	GNPTAB	ORPHA:576
HP:0002474	Expressive language delay	10735	STAG2	OMIM:301022
HP:0002474	Expressive language delay	64324	NSD1	OMIM:117550
HP:0002474	Expressive language delay	8565	YARS1	OMIM:619418
HP:0002474	Expressive language delay	10352	WARS2	OMIM:619738
HP:0002474	Expressive language delay	6389	SDHA	ORPHA:3208
HP:0002474	Expressive language delay	6390	SDHB	ORPHA:3208
HP:0002474	Expressive language delay	6392	SDHD	ORPHA:3208
HP:0002474	Expressive language delay	644096	SDHAF1	ORPHA:3208
HP:0002474	Expressive language delay	10381	TUBB3	ORPHA:300570
HP:0002474	Expressive language delay	93986	FOXP2	ORPHA:209908
HP:0002474	Expressive language delay	201163	FLCN	OMIM:610883
HP:0002474	Expressive language delay	9439	MED23	OMIM:614249
HP:0002474	Expressive language delay	10020	GNE	ORPHA:3166
HP:0002474	Expressive language delay	8085	KMT2D	OMIM:620186
HP:0002474	Expressive language delay	9839	ZEB2	ORPHA:261537
HP:0002474	Expressive language delay	9839	ZEB2	ORPHA:261552
HP:0002474	Expressive language delay	22827	PUF60	ORPHA:508488
HP:0002474	Expressive language delay	10847	SRCAP	OMIM:136140
HP:0002474	Expressive language delay	27086	FOXP1	ORPHA:391372
HP:0002474	Expressive language delay	6472	SHMT2	OMIM:619121
HP:0002474	Expressive language delay	28514	DLL1	ORPHA:280195
HP:0002474	Expressive language delay	2253	FGF8	ORPHA:280195
HP:0002474	Expressive language delay	6496	SIX3	ORPHA:280195
HP:0002474	Expressive language delay	7050	TGIF1	ORPHA:280195
HP:0002474	Expressive language delay	4838	NODAL	ORPHA:280195
HP:0002474	Expressive language delay	6469	SHH	ORPHA:280195
HP:0002474	Expressive language delay	7546	ZIC2	ORPHA:280195
HP:0002474	Expressive language delay	6491	STIL	ORPHA:280195
HP:0002474	Expressive language delay	2619	GAS1	ORPHA:280195
HP:0002474	Expressive language delay	84976	DISP1	ORPHA:280195
HP:0002474	Expressive language delay	2736	GLI2	ORPHA:280195
HP:0002474	Expressive language delay	8928	FOXH1	ORPHA:280195
HP:0002474	Expressive language delay	5727	PTCH1	ORPHA:280195
HP:0002474	Expressive language delay	50937	CDON	ORPHA:280195
HP:0002474	Expressive language delay	2782	GNB1	ORPHA:488613
HP:0002474	Expressive language delay	2782	GNB1	OMIM:616973
HP:0002474	Expressive language delay	27245	AHDC1	ORPHA:412069
HP:0002474	Expressive language delay	10730	YME1L1	OMIM:617302
HP:0002474	Expressive language delay	55186	SLC25A36	OMIM:620211
HP:0002474	Expressive language delay	10743	RAI1	ORPHA:1713
HP:0002474	Expressive language delay	89970	RSPRY1	ORPHA:457395
HP:0002474	Expressive language delay	1806	DPYD	ORPHA:1675
HP:0002474	Expressive language delay	6872	TAF1	ORPHA:480907
HP:0002474	Expressive language delay	171023	ASXL1	ORPHA:97297
HP:0002474	Expressive language delay	79813	EHMT1	ORPHA:261652
HP:0002474	Expressive language delay	58508	KMT2C	ORPHA:261652
HP:0002474	Expressive language delay	8925	HERC1	ORPHA:457359
HP:0002474	Expressive language delay	25970	SH2B1	ORPHA:261197
HP:0002474	Expressive language delay	57492	ARID1B	OMIM:135900
HP:0002474	Expressive language delay	2892	GRIA3	ORPHA:364028
HP:0002474	Expressive language delay	23126	POGZ	ORPHA:468678
HP:0002475	Myelomeningocele	7547	ZIC3	OMIM:306955
HP:0002475	Myelomeningocele	64840	PORCN	OMIM:305600
HP:0002475	Myelomeningocele	341640	FREM2	ORPHA:2052
HP:0002475	Myelomeningocele	80144	FRAS1	ORPHA:2052
HP:0002475	Myelomeningocele	80144	FRAS1	OMIM:219000
HP:0002475	Myelomeningocele	23426	GRIP1	ORPHA:2052
HP:0002475	Myelomeningocele	5077	PAX3	OMIM:193500
HP:0002475	Myelomeningocele	4488	MSX2	ORPHA:60015
HP:0002475	Myelomeningocele	60529	ALX4	ORPHA:60015
HP:0002475	Myelomeningocele	168667	BMPER	ORPHA:66637
HP:0002475	Myelomeningocele	57216	VANGL2	OMIM:182940
HP:0002475	Myelomeningocele	6347	CCL2	OMIM:182940
HP:0002475	Myelomeningocele	81839	VANGL1	OMIM:182940
HP:0002475	Myelomeningocele	81839	VANGL1	OMIM:600145
HP:0002475	Myelomeningocele	6862	TBXT	OMIM:182940
HP:0002475	Myelomeningocele	80199	FUZ	OMIM:182940
HP:0002475	Myelomeningocele	80199	FUZ	ORPHA:1136
HP:0002475	Myelomeningocele	10093	ARPC4	OMIM:620141
HP:0002475	Myelomeningocele	25942	SIN3A	ORPHA:94065
HP:0002475	Myelomeningocele	6628	SNRPB	ORPHA:1393
HP:0002475	Myelomeningocele	84667	HES7	OMIM:613686
HP:0002475	Myelomeningocele	8481	OFD1	OMIM:311200
HP:0002475	Myelomeningocele	51339	DACT1	ORPHA:63260
HP:0002475	Myelomeningocele	2737	GLI3	ORPHA:93322
HP:0002475	Myelomeningocele	2316	FLNA	ORPHA:90652
HP:0002475	Myelomeningocele	3481	IGF2	ORPHA:2128
HP:0002475	Myelomeningocele	10984	KCNQ1OT1	ORPHA:2128
HP:0002475	Myelomeningocele	283120	H19	ORPHA:2128
HP:0002475	Myelomeningocele	6309	SC5D	OMIM:607330
HP:0002475	Myelomeningocele	3190	HNRNPK	OMIM:616580
HP:0002475	Myelomeningocele	6608	SMO	OMIM:601707
HP:0002476	Primitive reflex	54209	TREM2	OMIM:618193
HP:0002476	Primitive reflex	51324	SPG21	OMIM:248900
HP:0002476	Primitive reflex	51324	SPG21	ORPHA:101001
HP:0002476	Primitive reflex	4137	MAPT	OMIM:600274
HP:0002476	Primitive reflex	4137	MAPT	OMIM:172700
HP:0002476	Primitive reflex	5663	PSEN1	OMIM:600274
HP:0002476	Primitive reflex	5663	PSEN1	OMIM:172700
HP:0002476	Primitive reflex	5832	ALDH18A1	ORPHA:447760
HP:0002476	Primitive reflex	63895	PIEZO2	OMIM:248700
HP:0002476	Primitive reflex	4728	NDUFS8	OMIM:618222
HP:0002476	Primitive reflex	8818	DPM2	OMIM:615042
HP:0002476	Primitive reflex	2760	GM2A	ORPHA:309246
HP:0002476	Primitive reflex	2760	GM2A	OMIM:272750
HP:0002476	Primitive reflex	7305	TYROBP	OMIM:221770
HP:0002476	Primitive reflex	8722	CTSF	OMIM:615362
HP:0002476	Primitive reflex	6487	ST3GAL3	OMIM:615006
HP:0002476	Primitive reflex	22931	RAB18	OMIM:614222
HP:0002476	Primitive reflex	1786	DNMT1	ORPHA:314404
HP:0002476	Primitive reflex	1786	DNMT1	OMIM:604121
HP:0002476	Primitive reflex	3032	HADHB	ORPHA:746
HP:0002476	Primitive reflex	3030	HADHA	ORPHA:746
HP:0002476	Primitive reflex	57338	JPH3	ORPHA:98934
HP:0002476	Primitive reflex	1639	DCTN1	OMIM:168605
HP:0002476	Primitive reflex	4311	MME	OMIM:617018
HP:0002476	Primitive reflex	23400	ATP13A2	OMIM:606693
HP:0002476	Primitive reflex	10381	TUBB3	ORPHA:300570
HP:0002476	Primitive reflex	5277	PIGA	OMIM:301072
HP:0002476	Primitive reflex	16	AARS1	OMIM:619661
HP:0002476	Primitive reflex	9829	DNAJC6	OMIM:615528
HP:0002476	Primitive reflex	2743	GLRB	OMIM:614619
HP:0002476	Primitive reflex	55768	NGLY1	OMIM:615273
HP:0002476	Primitive reflex	55768	NGLY1	ORPHA:404454
HP:0002478	Progressive spastic quadriplegia	410	ARSA	ORPHA:309271
HP:0002478	Progressive spastic quadriplegia	5660	PSAP	ORPHA:309271
HP:0002478	Progressive spastic quadriplegia	23400	ATP13A2	ORPHA:513436
HP:0002478	Progressive spastic quadriplegia	5354	PLP1	ORPHA:280234
HP:0002478	Progressive spastic quadriplegia	5354	PLP1	OMIM:312080
HP:0002478	Progressive spastic quadriplegia	54	ACP5	OMIM:607944
HP:0002478	Progressive spastic quadriplegia	2760	GM2A	ORPHA:309246
HP:0002478	Progressive spastic quadriplegia	79152	FA2H	ORPHA:329308
HP:0002478	Progressive spastic quadriplegia	6711	SPTBN1	OMIM:619475
HP:0002478	Progressive spastic quadriplegia	133686	NADK2	ORPHA:431361
HP:0002478	Progressive spastic quadriplegia	9373	PLAA	ORPHA:521426
HP:0002478	Progressive spastic quadriplegia	383	ARG1	OMIM:207800
HP:0002478	Progressive spastic quadriplegia	383	ARG1	ORPHA:90
HP:0002478	Progressive spastic quadriplegia	5048	PAFAH1B1	ORPHA:95232
HP:0012690	T2 hypointense thalamus	54209	TREM2	OMIM:618193
HP:0012690	T2 hypointense thalamus	2512	FTL	ORPHA:157846
HP:0012690	T2 hypointense thalamus	2055	CLN8	ORPHA:1947
HP:0012691	Focal T2 hypointense thalamic lesion	8314	BAP1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	4771	NF2	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6598	SMARCB1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	5155	PDGFB	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	84231	TRAF7	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6608	SMO	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	207	AKT1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	5290	PIK3CA	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	7015	TERT	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	51684	SUFU	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6605	SMARCE1	ORPHA:2495
HP:0012693	Abnormal thalamic size	23265	EXOC7	OMIM:619072
HP:0012693	Abnormal thalamic size	29925	GMPPB	ORPHA:370959
HP:0012693	Abnormal thalamic size	79147	FKRP	ORPHA:370959
HP:0012693	Abnormal thalamic size	29954	POMT2	ORPHA:370959
HP:0012693	Abnormal thalamic size	84197	POMK	ORPHA:370959
HP:0012693	Abnormal thalamic size	55624	POMGNT1	ORPHA:370959
HP:0012693	Abnormal thalamic size	10585	POMT1	ORPHA:370959
HP:0012693	Abnormal thalamic size	9440	MED17	OMIM:613668
HP:0012693	Abnormal thalamic size	170825	GSX2	OMIM:618646
HP:0012693	Abnormal thalamic size	6513	SLC2A1	ORPHA:168577
HP:0012695	Decreased thalamic volume	23265	EXOC7	OMIM:619072
HP:0012695	Decreased thalamic volume	29925	GMPPB	ORPHA:370959
HP:0012695	Decreased thalamic volume	79147	FKRP	ORPHA:370959
HP:0012695	Decreased thalamic volume	29954	POMT2	ORPHA:370959
HP:0012695	Decreased thalamic volume	84197	POMK	ORPHA:370959
HP:0012695	Decreased thalamic volume	55624	POMGNT1	ORPHA:370959
HP:0012695	Decreased thalamic volume	10585	POMT1	ORPHA:370959
HP:0012695	Decreased thalamic volume	9440	MED17	OMIM:613668
HP:0012695	Decreased thalamic volume	170825	GSX2	OMIM:618646
HP:0012695	Decreased thalamic volume	6513	SLC2A1	ORPHA:168577
HP:0012696	Abnormal thalamic MRI signal intensity	54209	TREM2	OMIM:618193
HP:0012696	Abnormal thalamic MRI signal intensity	2055	CLN8	ORPHA:1947
HP:0012696	Abnormal thalamic MRI signal intensity	8314	BAP1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	4771	NF2	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6598	SMARCB1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	5155	PDGFB	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	84231	TRAF7	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6608	SMO	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	207	AKT1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	5290	PIK3CA	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	7015	TERT	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	51684	SUFU	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6605	SMARCE1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6342	SCP2	OMIM:613724
HP:0012696	Abnormal thalamic MRI signal intensity	1352	COX10	OMIM:619046
HP:0012696	Abnormal thalamic MRI signal intensity	55037	PTCD3	OMIM:619057
HP:0012696	Abnormal thalamic MRI signal intensity	2512	FTL	ORPHA:157846
HP:0012696	Abnormal thalamic MRI signal intensity	91574	MTRFR	ORPHA:254930
HP:0012696	Abnormal thalamic MRI signal intensity	3074	HEXB	ORPHA:309155
HP:0012696	Abnormal thalamic MRI signal intensity	56947	MFF	ORPHA:485421
HP:0012696	Abnormal thalamic MRI signal intensity	2670	GFAP	ORPHA:363717
HP:0012696	Abnormal thalamic MRI signal intensity	1356	CP	ORPHA:48818
HP:0012696	Abnormal thalamic MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012696	Abnormal thalamic MRI signal intensity	5428	POLG	ORPHA:70595
HP:0012696	Abnormal thalamic MRI signal intensity	56652	TWNK	ORPHA:70595
HP:0012697	Small basal ganglia	10381	TUBB3	ORPHA:300570
HP:0012697	Small basal ganglia	23230	VPS13A	ORPHA:2388
HP:0012697	Small basal ganglia	54187	NANS	OMIM:610442
HP:0012697	Small basal ganglia	93627	TBCK	OMIM:616900
HP:0012697	Small basal ganglia	4508	MT-ATP6	ORPHA:225154
HP:0012697	Small basal ganglia	23636	NUP62	ORPHA:225154
HP:0012697	Small basal ganglia	103	ADAR	ORPHA:225154
HP:0012697	Small basal ganglia	80704	SLC19A3	ORPHA:263410
HP:0012697	Small basal ganglia	26275	HIBCH	ORPHA:88639
HP:0012697	Small basal ganglia	2232	FDXR	ORPHA:543470
HP:0012697	Small basal ganglia	1528	CYB5A	ORPHA:621
HP:0012697	Small basal ganglia	1727	CYB5R3	ORPHA:621
HP:0012697	Small basal ganglia	8506	CNTNAP1	OMIM:616286
HP:0012698	Cerebellar gliosis	91137	SLC25A46	OMIM:616505
HP:0012698	Cerebellar gliosis	9361	LONP1	ORPHA:79243
HP:0012698	Cerebellar gliosis	5160	PDHA1	ORPHA:79243
HP:0012698	Cerebellar gliosis	8398	PLA2G6	ORPHA:35069
HP:0012699	Anomaly of lower limb diaphyses	284058	KANSL1	ORPHA:363965
HP:0012699	Anomaly of lower limb diaphyses	284058	KANSL1	ORPHA:363958
HP:0012692	Focal T2 hyperintense thalamic lesion	6342	SCP2	OMIM:613724
HP:0012692	Focal T2 hyperintense thalamic lesion	1352	COX10	OMIM:619046
HP:0012692	Focal T2 hyperintense thalamic lesion	55037	PTCD3	OMIM:619057
HP:0009635	Synostosis of thumb phalanx	10084	PQBP1	OMIM:309500
HP:0009635	Synostosis of thumb phalanx	4841	NONO	OMIM:300967
HP:0009637	Absent proximal phalanx of thumb	2263	FGFR2	OMIM:149730
HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	10084	PQBP1	OMIM:309500
HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	4841	NONO	OMIM:300967
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	2316	FLNA	ORPHA:1826
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	2778	GNAS	ORPHA:79445
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0002480	Hepatic encephalopathy	7840	ALMS1	ORPHA:64
HP:0002480	Hepatic encephalopathy	51594	NBAS	OMIM:616483
HP:0002480	Hepatic encephalopathy	1738	DLD	ORPHA:2394
HP:0002480	Hepatic encephalopathy	60561	RINT1	OMIM:618641
HP:0002480	Hepatic encephalopathy	57169	ZNFX1	OMIM:619644
HP:0002480	Hepatic encephalopathy	5105	PCK1	OMIM:261680
HP:0002480	Hepatic encephalopathy	54914	FOCAD	OMIM:619991
HP:0002480	Hepatic encephalopathy	7289	TULP3	OMIM:619902
HP:0002480	Hepatic encephalopathy	10165	SLC25A13	ORPHA:247585
HP:0002480	Hepatic encephalopathy	6261	RYR1	ORPHA:466650
HP:0002480	Hepatic encephalopathy	331	XIAP	OMIM:308240
HP:0002480	Hepatic encephalopathy	4068	SH2D1A	OMIM:308240
HP:0002480	Hepatic encephalopathy	9451	EIF2AK3	ORPHA:1667
HP:0002483	Bulbar signs	410	ARSA	ORPHA:309271
HP:0002483	Bulbar signs	5660	PSAP	ORPHA:309271
HP:0002483	Bulbar signs	6261	RYR1	ORPHA:597
HP:0002483	Bulbar signs	65055	REEP1	ORPHA:101011
HP:0002483	Bulbar signs	4750	NEK1	OMIM:617892
HP:0002483	Bulbar signs	9782	MATR3	OMIM:606070
HP:0002483	Bulbar signs	84665	MYPN	ORPHA:171439
HP:0002483	Bulbar signs	58	ACTA1	ORPHA:171439
HP:0002483	Bulbar signs	7169	TPM2	ORPHA:171439
HP:0002483	Bulbar signs	390594	KBTBD13	ORPHA:171439
HP:0002483	Bulbar signs	4703	NEB	ORPHA:171439
HP:0002483	Bulbar signs	10324	KLHL41	ORPHA:171439
HP:0002483	Bulbar signs	7170	TPM3	ORPHA:171439
HP:0002483	Bulbar signs	773	CACNA1A	ORPHA:2131
HP:0002483	Bulbar signs	6507	SLC1A3	ORPHA:2131
HP:0002483	Bulbar signs	477	ATP1A2	ORPHA:2131
HP:0002483	Bulbar signs	478	ATP1A3	ORPHA:2131
HP:0002483	Bulbar signs	478	ATP1A3	OMIM:128235
HP:0002483	Bulbar signs	8398	PLA2G6	ORPHA:35069
HP:0002483	Bulbar signs	80208	SPG11	OMIM:602099
HP:0002483	Bulbar signs	80208	SPG11	ORPHA:300605
HP:0002483	Bulbar signs	9217	VAPB	OMIM:608627
HP:0002483	Bulbar signs	4535	MT-ND1	ORPHA:255210
HP:0002483	Bulbar signs	4536	MT-ND2	ORPHA:255210
HP:0002483	Bulbar signs	4537	MT-ND3	ORPHA:255210
HP:0002483	Bulbar signs	4538	MT-ND4	ORPHA:255210
HP:0002483	Bulbar signs	4567	MT-TL1	ORPHA:255210
HP:0002483	Bulbar signs	4578	MT-TW	ORPHA:255210
HP:0002483	Bulbar signs	4577	MT-TV	ORPHA:255210
HP:0002483	Bulbar signs	4508	MT-ATP6	ORPHA:255210
HP:0002483	Bulbar signs	4540	MT-ND5	ORPHA:255210
HP:0002483	Bulbar signs	4541	MT-ND6	ORPHA:255210
HP:0002483	Bulbar signs	4566	MT-TK	ORPHA:255210
HP:0002483	Bulbar signs	2521	FUS	ORPHA:300605
HP:0002483	Bulbar signs	10280	SIGMAR1	ORPHA:300605
HP:0002483	Bulbar signs	10558	SPTLC1	ORPHA:300605
HP:0002483	Bulbar signs	57679	ALS2	ORPHA:300605
HP:0002483	Bulbar signs	2629	GBA1	OMIM:230900
HP:0002483	Bulbar signs	2934	GSN	ORPHA:85448
HP:0002483	Bulbar signs	2670	GFAP	OMIM:203450
HP:0002483	Bulbar signs	10342	TFG	ORPHA:90117
HP:0002483	Bulbar signs	9373	PLAA	ORPHA:521426
HP:0002483	Bulbar signs	9373	PLAA	OMIM:617527
HP:0002483	Bulbar signs	9896	FIG4	OMIM:612577
HP:0002483	Bulbar signs	400916	CHCHD10	ORPHA:276435
HP:0002483	Bulbar signs	23516	SLC39A14	ORPHA:521406
HP:0002483	Bulbar signs	6310	ATXN1	ORPHA:98755
HP:0002487	Hyperkinetic movements	55768	NGLY1	OMIM:615273
HP:0002487	Hyperkinetic movements	55768	NGLY1	ORPHA:404454
HP:0002487	Hyperkinetic movements	2775	GNAO1	OMIM:617493
HP:0002487	Hyperkinetic movements	57187	THOC2	OMIM:300957
HP:0002487	Hyperkinetic movements	57187	THOC2	ORPHA:457240
HP:0002487	Hyperkinetic movements	60684	TRAPPC11	OMIM:615356
HP:0002487	Hyperkinetic movements	60684	TRAPPC11	ORPHA:369847
HP:0002487	Hyperkinetic movements	6531	SLC6A3	OMIM:613135
HP:0002487	Hyperkinetic movements	7701	ZNF142	OMIM:618425
HP:0002487	Hyperkinetic movements	6323	SCN1A	OMIM:619317
HP:0002487	Hyperkinetic movements	2643	GCH1	OMIM:233910
HP:0002487	Hyperkinetic movements	10846	PDE10A	OMIM:616921
HP:0002487	Hyperkinetic movements	25914	RTTN	ORPHA:468631
HP:0002487	Hyperkinetic movements	4552	MTRR	OMIM:236270
HP:0002487	Hyperkinetic movements	10479	SLC9A6	OMIM:300243
HP:0002487	Hyperkinetic movements	2571	GAD1	OMIM:619124
HP:0002487	Hyperkinetic movements	6857	SYT1	ORPHA:522077
HP:0002487	Hyperkinetic movements	6857	SYT1	OMIM:618218
HP:0002487	Hyperkinetic movements	10730	YME1L1	OMIM:617302
HP:0002487	Hyperkinetic movements	5660	PSAP	OMIM:611721
HP:0002487	Hyperkinetic movements	29920	PYCR2	OMIM:616420
HP:0002487	Hyperkinetic movements	23732	FRRS1L	OMIM:616981
HP:0002487	Hyperkinetic movements	23732	FRRS1L	ORPHA:725
HP:0002487	Hyperkinetic movements	777	CACNA1E	OMIM:618285
HP:0002487	Hyperkinetic movements	816	CAMK2B	OMIM:617799
HP:0002487	Hyperkinetic movements	10352	WARS2	OMIM:619738
HP:0002487	Hyperkinetic movements	2903	GRIN2A	ORPHA:725
HP:0002487	Hyperkinetic movements	10020	GNE	ORPHA:3166
HP:0002487	Hyperkinetic movements	3954	LETM1	OMIM:620089
HP:0002487	Hyperkinetic movements	5805	PTS	ORPHA:13
HP:0002487	Hyperkinetic movements	23096	IQSEC2	ORPHA:397933
HP:0002487	Hyperkinetic movements	774	CACNA1B	OMIM:618497
HP:0002487	Hyperkinetic movements	81570	CLPB	OMIM:616271
HP:0002487	Hyperkinetic movements	8802	SUCLG1	ORPHA:17
HP:0002487	Hyperkinetic movements	2902	GRIN1	OMIM:614254
HP:0002487	Hyperkinetic movements	8803	SUCLA2	OMIM:612073
HP:0002487	Hyperkinetic movements	4761	NEUROD2	OMIM:618374
HP:0002487	Hyperkinetic movements	23230	VPS13A	ORPHA:2388
HP:0002487	Hyperkinetic movements	6326	SCN2A	OMIM:613721
HP:0002487	Hyperkinetic movements	7915	ALDH5A1	OMIM:271980
HP:0002487	Hyperkinetic movements	112476	PRRT2	ORPHA:98810
HP:0002487	Hyperkinetic movements	25953	PNKD	ORPHA:98810
HP:0002487	Hyperkinetic movements	3028	HSD17B10	ORPHA:391428
HP:0002488	Acute leukemia	5566	PRKACA	ORPHA:289
HP:0002488	Acute leukemia	5567	PRKACB	ORPHA:289
HP:0002488	Acute leukemia	2735	GLI1	ORPHA:289
HP:0002488	Acute leukemia	2121	EVC	ORPHA:289
HP:0002488	Acute leukemia	51626	DYNC2LI1	ORPHA:289
HP:0002488	Acute leukemia	132884	EVC2	ORPHA:289
HP:0002488	Acute leukemia	546	ATRX	ORPHA:231401
HP:0002488	Acute leukemia	7157	TP53	OMIM:151623
HP:0002488	Acute leukemia	7157	TP53	ORPHA:3318
HP:0002488	Acute leukemia	10019	SH2B3	ORPHA:3318
HP:0002488	Acute leukemia	811	CALR	ORPHA:3318
HP:0002488	Acute leukemia	4352	MPL	ORPHA:3318
HP:0002488	Acute leukemia	4352	MPL	ORPHA:729
HP:0002488	Acute leukemia	3717	JAK2	ORPHA:3318
HP:0002488	Acute leukemia	3717	JAK2	ORPHA:729
HP:0002488	Acute leukemia	54790	TET2	ORPHA:3318
HP:0002488	Acute leukemia	54790	TET2	ORPHA:729
HP:0002488	Acute leukemia	412	STS	ORPHA:281090
HP:0002488	Acute leukemia	7454	WAS	ORPHA:906
HP:0002488	Acute leukemia	7456	WIPF1	ORPHA:906
HP:0002488	Acute leukemia	7518	XRCC4	ORPHA:99812
HP:0002488	Acute leukemia	3981	LIG4	ORPHA:99812
HP:0002488	Acute leukemia	7305	TYROBP	ORPHA:2770
HP:0002488	Acute leukemia	54209	TREM2	ORPHA:2770
HP:0002488	Acute leukemia	4683	NBN	ORPHA:647
HP:0002488	Acute leukemia	9487	PIGL	ORPHA:3474
HP:0002488	Acute leukemia	2624	GATA2	ORPHA:3226
HP:0002488	Acute leukemia	2672	GFI1	OMIM:607847
HP:0002488	Acute leukemia	2672	GFI1	ORPHA:486
HP:0002488	Acute leukemia	128	ADH5	OMIM:619151
HP:0002488	Acute leukemia	7066	THPO	ORPHA:71493
HP:0002488	Acute leukemia	26511	CHIC2	OMIM:601626
HP:0002488	Acute leukemia	3845	KRAS	OMIM:601626
HP:0002488	Acute leukemia	8021	NUP214	OMIM:601626
HP:0002488	Acute leukemia	2120	ETV6	OMIM:601626
HP:0002488	Acute leukemia	1050	CEBPA	OMIM:601626
HP:0002488	Acute leukemia	7015	TERT	OMIM:601626
HP:0002488	Acute leukemia	2322	FLT3	OMIM:601626
HP:0002488	Acute leukemia	861	RUNX1	OMIM:601626
HP:0002488	Acute leukemia	861	RUNX1	OMIM:601399
HP:0002488	Acute leukemia	1788	DNMT3A	OMIM:601626
HP:0002488	Acute leukemia	6455	SH3GL1	OMIM:601626
HP:0002488	Acute leukemia	4869	NPM1	OMIM:601626
HP:0002488	Acute leukemia	8028	MLLT10	OMIM:601626
HP:0002488	Acute leukemia	3815	KIT	OMIM:601626
HP:0002488	Acute leukemia	3815	KIT	ORPHA:98849
HP:0002488	Acute leukemia	8301	PICALM	OMIM:601626
HP:0002488	Acute leukemia	4026	LPP	OMIM:601626
HP:0002488	Acute leukemia	134218	DNAJC21	OMIM:617052
HP:0002488	Acute leukemia	134218	DNAJC21	OMIM:260400
HP:0002488	Acute leukemia	134218	DNAJC21	ORPHA:811
HP:0002488	Acute leukemia	6208	RPS14	ORPHA:86841
HP:0002488	Acute leukemia	8930	MBD4	OMIM:619975
HP:0002488	Acute leukemia	171023	ASXL1	ORPHA:98849
HP:0002488	Acute leukemia	6427	SRSF2	ORPHA:98849
HP:0002488	Acute leukemia	4210	MEFV	ORPHA:3243
HP:0002488	Acute leukemia	1736	DKC1	OMIM:305000
HP:0002488	Acute leukemia	2065	ERBB3	OMIM:133180
HP:0002488	Acute leukemia	23451	SF3B1	ORPHA:75564
HP:0002488	Acute leukemia	1029	CDKN2A	ORPHA:524
HP:0002488	Acute leukemia	4193	MDM2	ORPHA:524
HP:0002488	Acute leukemia	11200	CHEK2	ORPHA:524
HP:0002488	Acute leukemia	10312	TCIRG1	ORPHA:486
HP:0002488	Acute leukemia	1991	ELANE	ORPHA:486
HP:0002488	Acute leukemia	6729	SRP54	ORPHA:486
HP:0002488	Acute leukemia	6729	SRP54	OMIM:260400
HP:0002488	Acute leukemia	6729	SRP54	ORPHA:811
HP:0002488	Acute leukemia	81570	CLPB	ORPHA:486
HP:0002488	Acute leukemia	641	BLM	ORPHA:125
HP:0002488	Acute leukemia	54809	SAMD9	OMIM:619041
HP:0002488	Acute leukemia	6135	RPL11	ORPHA:124
HP:0002488	Acute leukemia	6138	RPL15	ORPHA:124
HP:0002488	Acute leukemia	6229	RPS24	ORPHA:124
HP:0002488	Acute leukemia	6125	RPL5	ORPHA:124
HP:0002488	Acute leukemia	6204	RPS10	ORPHA:124
HP:0002488	Acute leukemia	6224	RPS20	ORPHA:124
HP:0002488	Acute leukemia	6165	RPL35A	ORPHA:124
HP:0002488	Acute leukemia	2623	GATA1	ORPHA:124
HP:0002488	Acute leukemia	6223	RPS19	ORPHA:124
HP:0002488	Acute leukemia	6232	RPS27	ORPHA:124
HP:0002488	Acute leukemia	6231	RPS26	ORPHA:124
HP:0002488	Acute leukemia	11224	RPL35	ORPHA:124
HP:0002488	Acute leukemia	6160	RPL31	ORPHA:124
HP:0002488	Acute leukemia	6218	RPS17	ORPHA:124
HP:0002488	Acute leukemia	6201	RPS7	ORPHA:124
HP:0002488	Acute leukemia	6155	RPL27	ORPHA:124
HP:0002488	Acute leukemia	6154	RPL26	ORPHA:124
HP:0002488	Acute leukemia	6210	RPS15A	ORPHA:124
HP:0002488	Acute leukemia	90121	TSR2	ORPHA:124
HP:0002488	Acute leukemia	6141	RPL18	ORPHA:124
HP:0002488	Acute leukemia	6235	RPS29	ORPHA:124
HP:0002488	Acute leukemia	6234	RPS28	ORPHA:124
HP:0002488	Acute leukemia	51816	ADA2	ORPHA:124
HP:0002488	Acute leukemia	51119	SBDS	OMIM:260400
HP:0002488	Acute leukemia	51119	SBDS	ORPHA:811
HP:0002488	Acute leukemia	51428	DDX41	OMIM:616871
HP:0002488	Acute leukemia	29089	UBE2T	OMIM:616435
HP:0002488	Acute leukemia	79631	EFL1	ORPHA:811
HP:0002488	Acute leukemia	6929	TCF3	OMIM:619824
HP:0002488	Acute leukemia	219285	SAMD9L	OMIM:159550
HP:0002488	Acute leukemia	219285	SAMD9L	ORPHA:2585
HP:0002488	Acute leukemia	3417	IDH1	ORPHA:99646
HP:0002488	Acute leukemia	4926	NUMA1	OMIM:612376
HP:0002488	Acute leukemia	5914	RARA	OMIM:612376
HP:0002488	Acute leukemia	6609	SMPD1	ORPHA:77293
HP:0002488	Acute leukemia	161742	SPRED1	ORPHA:137605
HP:0002488	Acute leukemia	25	ABL1	OMIM:608232
HP:0002488	Acute leukemia	613	BCR	OMIM:608232
HP:0002488	Acute leukemia	54888	NSUN2	ORPHA:235
HP:0002488	Acute leukemia	9184	BUB3	ORPHA:1052
HP:0002488	Acute leukemia	699	BUB1	ORPHA:1052
HP:0002488	Acute leukemia	9702	CEP57	ORPHA:1052
HP:0002488	Acute leukemia	9319	TRIP13	ORPHA:1052
HP:0002488	Acute leukemia	701	BUB1B	ORPHA:1052
HP:0002488	Acute leukemia	581	BAX	OMIM:613065
HP:0002488	Acute leukemia	2782	GNB1	OMIM:613065
HP:0002488	Acute leukemia	6886	TAL1	OMIM:613065
HP:0002488	Acute leukemia	6887	TAL2	OMIM:613065
HP:0002488	Acute leukemia	10320	IKZF1	OMIM:616873
HP:0002488	Acute leukemia	472	ATM	OMIM:208900
HP:0002488	Acute leukemia	10456	HAX1	OMIM:610738
HP:0002488	Acute leukemia	64324	NSD1	ORPHA:821
HP:0002488	Acute leukemia	29072	SETD2	ORPHA:821
HP:0002488	Acute leukemia	10297	APC2	ORPHA:821
HP:0002488	Acute leukemia	675	BRCA2	OMIM:605724
HP:0002488	Acute leukemia	675	BRCA2	OMIM:613029
HP:0002488	Acute leukemia	4436	MSH2	OMIM:619096
HP:0002488	Acute leukemia	1854	DUT	OMIM:620044
HP:0009648	Triangular shaped distal phalanx of the thumb	3756	KCNH1	ORPHA:420561
HP:0009650	Short distal phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009650	Short distal phalanx of the thumb	2316	FLNA	ORPHA:1826
HP:0009650	Short distal phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009650	Short distal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009650	Short distal phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009650	Short distal phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009650	Short distal phalanx of the thumb	2778	GNAS	ORPHA:79445
HP:0009650	Short distal phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0011304	Broad thumb	9469	CHST3	OMIM:245600
HP:0011304	Broad thumb	26229	B3GAT3	OMIM:245600
HP:0011304	Broad thumb	2317	FLNB	OMIM:150250
HP:0011304	Broad thumb	2316	FLNA	OMIM:311300
HP:0011304	Broad thumb	2778	GNAS	ORPHA:79443
HP:0011304	Broad thumb	2778	GNAS	ORPHA:79444
HP:0011304	Broad thumb	2263	FGFR2	OMIM:101200
HP:0011304	Broad thumb	3239	HOXD13	OMIM:113200
HP:0011304	Broad thumb	7291	TWIST1	ORPHA:794
HP:0011304	Broad thumb	7291	TWIST1	OMIM:180750
HP:0011304	Broad thumb	2261	FGFR3	ORPHA:794
HP:0011304	Broad thumb	2261	FGFR3	OMIM:602849
HP:0011304	Broad thumb	1280	COL2A1	OMIM:271700
HP:0011304	Broad thumb	2737	GLI3	ORPHA:672
HP:0011304	Broad thumb	2737	GLI3	ORPHA:380
HP:0011304	Broad thumb	2737	GLI3	OMIM:175700
HP:0011304	Broad thumb	2737	GLI3	OMIM:174200
HP:0011304	Broad thumb	22827	PUF60	ORPHA:508498
HP:0011304	Broad thumb	23394	ADNP	ORPHA:404448
HP:0011304	Broad thumb	6910	TBX5	ORPHA:392
HP:0011304	Broad thumb	6477	SIAH1	OMIM:619314
HP:0011304	Broad thumb	10059	DNM1L	OMIM:614388
HP:0011304	Broad thumb	6885	MAP3K7	OMIM:617137
HP:0011304	Broad thumb	6885	MAP3K7	ORPHA:1826
HP:0011304	Broad thumb	23314	SATB2	ORPHA:251028
HP:0011304	Broad thumb	23314	SATB2	ORPHA:251019
HP:0011304	Broad thumb	23314	SATB2	ORPHA:576283
HP:0011304	Broad thumb	9241	NOG	OMIM:184460
HP:0011304	Broad thumb	9241	NOG	ORPHA:3237
HP:0011304	Broad thumb	6299	SALL1	OMIM:107480
HP:0011304	Broad thumb	6299	SALL1	ORPHA:857
HP:0011304	Broad thumb	10847	SRCAP	OMIM:136140
HP:0011304	Broad thumb	1387	CREBBP	ORPHA:353281
HP:0011304	Broad thumb	1387	CREBBP	OMIM:180849
HP:0011304	Broad thumb	1387	CREBBP	ORPHA:353277
HP:0011304	Broad thumb	650	BMP2	ORPHA:261295
HP:0011304	Broad thumb	3020	H3-3A	OMIM:619720
HP:0011304	Broad thumb	29998	BICRA	OMIM:619325
HP:0011304	Broad thumb	3021	H3-3B	OMIM:619721
HP:0011304	Broad thumb	4920	ROR2	OMIM:113000
HP:0011304	Broad thumb	4920	ROR2	ORPHA:1507
HP:0011304	Broad thumb	4920	ROR2	OMIM:268310
HP:0011304	Broad thumb	1855	DVL1	OMIM:616331
HP:0011304	Broad thumb	1855	DVL1	OMIM:180700
HP:0011304	Broad thumb	8239	USP9X	OMIM:300919
HP:0011304	Broad thumb	2033	EP300	ORPHA:353284
HP:0011304	Broad thumb	2033	EP300	OMIM:180849
HP:0011304	Broad thumb	2033	EP300	OMIM:613684
HP:0011304	Broad thumb	3248	HPGD	ORPHA:217059
HP:0011304	Broad thumb	176	ACAN	OMIM:612813
HP:0011304	Broad thumb	176	ACAN	ORPHA:171866
HP:0011304	Broad thumb	2239	GPC4	OMIM:301026
HP:0011304	Broad thumb	2239	GPC4	ORPHA:2662
HP:0011304	Broad thumb	2239	GPC4	ORPHA:373
HP:0011304	Broad thumb	2239	GPC4	OMIM:312870
HP:0011304	Broad thumb	51132	RLIM	OMIM:300978
HP:0011304	Broad thumb	64359	NXN	OMIM:618529
HP:0011304	Broad thumb	64359	NXN	ORPHA:1507
HP:0011304	Broad thumb	92579	G6PC3	OMIM:612541
HP:0011304	Broad thumb	64131	XYLT1	OMIM:615777
HP:0011304	Broad thumb	64131	XYLT1	ORPHA:370930
HP:0011304	Broad thumb	29920	PYCR2	ORPHA:481152
HP:0011304	Broad thumb	2260	FGFR1	ORPHA:93258
HP:0011304	Broad thumb	2260	FGFR1	OMIM:166250
HP:0011304	Broad thumb	2260	FGFR1	OMIM:101600
HP:0011304	Broad thumb	64093	SMOC1	ORPHA:1106
HP:0011304	Broad thumb	2626	GATA4	ORPHA:251071
HP:0011304	Broad thumb	8726	EED	OMIM:617561
HP:0011304	Broad thumb	8726	EED	ORPHA:3447
HP:0011304	Broad thumb	5718	PSMD12	ORPHA:529962
HP:0011304	Broad thumb	2186	BPTF	ORPHA:529962
HP:0011304	Broad thumb	4212	MEIS2	OMIM:600987
HP:0011304	Broad thumb	1954	MEGF8	OMIM:614976
HP:0011304	Broad thumb	1954	MEGF8	ORPHA:65759
HP:0011304	Broad thumb	51715	RAB23	ORPHA:65759
HP:0011304	Broad thumb	5728	PTEN	ORPHA:79076
HP:0011304	Broad thumb	5728	PTEN	ORPHA:109
HP:0011304	Broad thumb	657	BMPR1A	ORPHA:79076
HP:0011304	Broad thumb	8200	GDF5	ORPHA:3237
HP:0011304	Broad thumb	2254	FGF9	ORPHA:3237
HP:0011304	Broad thumb	2254	FGF9	OMIM:612961
HP:0011304	Broad thumb	3981	LIG4	ORPHA:235
HP:0011304	Broad thumb	54888	NSUN2	ORPHA:235
HP:0011304	Broad thumb	6608	SMO	OMIM:601707
HP:0011304	Broad thumb	6608	SMO	ORPHA:1553
HP:0011304	Broad thumb	23126	POGZ	OMIM:616364
HP:0011304	Broad thumb	51633	OTUD6B	OMIM:617452
HP:0011304	Broad thumb	51633	OTUD6B	ORPHA:505237
HP:0011304	Broad thumb	5593	PRKG2	OMIM:619638
HP:0011304	Broad thumb	79753	SNIP1	OMIM:614501
HP:0011304	Broad thumb	9968	MED12	OMIM:309520
HP:0011304	Broad thumb	9968	MED12	OMIM:305450
HP:0011304	Broad thumb	80036	TRPM3	OMIM:620224
HP:0011304	Broad thumb	285362	SUMF1	OMIM:272200
HP:0011304	Broad thumb	285362	SUMF1	ORPHA:585
HP:0011304	Broad thumb	79759	ZNF668	OMIM:620194
HP:0011304	Broad thumb	10236	HNRNPR	OMIM:620073
HP:0011304	Broad thumb	284252	KCTD1	OMIM:181270
HP:0011304	Broad thumb	1857	DVL3	OMIM:616894
HP:0011304	Broad thumb	8481	OFD1	OMIM:300209
HP:0011304	Broad thumb	56098	PCDHGC4	OMIM:619880
HP:0011304	Broad thumb	51339	DACT1	ORPHA:857
HP:0011304	Broad thumb	3756	KCNH1	ORPHA:420561
HP:0011304	Broad thumb	3756	KCNH1	OMIM:611816
HP:0011304	Broad thumb	2719	GPC3	ORPHA:373
HP:0011304	Broad thumb	2719	GPC3	OMIM:312870
HP:0011304	Broad thumb	4123	MAN2C1	OMIM:619775
HP:0011304	Broad thumb	4488	MSX2	ORPHA:60015
HP:0011304	Broad thumb	60529	ALX4	ORPHA:60015
HP:0011304	Broad thumb	79989	IFT56	OMIM:619534
HP:0011304	Broad thumb	2146	EZH2	OMIM:277590
HP:0011304	Broad thumb	2146	EZH2	ORPHA:3447
HP:0011304	Broad thumb	9939	RBM8A	ORPHA:3320
HP:0011304	Broad thumb	9939	RBM8A	OMIM:274000
HP:0011304	Broad thumb	7474	WNT5A	OMIM:180700
HP:0011304	Broad thumb	64324	NSD1	ORPHA:3447
HP:0011304	Broad thumb	23512	SUZ12	ORPHA:3447
HP:0011304	Broad thumb	23404	EXOSC2	OMIM:617763
HP:0011304	Broad thumb	5587	PRKD1	OMIM:617364
HP:0011304	Broad thumb	2702	GJA5	OMIM:612474
HP:0011304	Broad thumb	2703	GJA8	OMIM:612474
HP:0011304	Broad thumb	3636	INPPL1	ORPHA:2746
HP:0011304	Broad thumb	55690	PACS1	ORPHA:329224
HP:0011304	Broad thumb	22907	DHX30	OMIM:617804
HP:0011304	Broad thumb	865	CBFB	OMIM:620099
HP:0002490	Increased CSF lactate	9131	AIFM1	ORPHA:238329
HP:0002490	Increased CSF lactate	9131	AIFM1	OMIM:300816
HP:0002490	Increased CSF lactate	4702	NDUFA8	OMIM:619272
HP:0002490	Increased CSF lactate	10128	LRPPRC	OMIM:220111
HP:0002490	Increased CSF lactate	10128	LRPPRC	ORPHA:70472
HP:0002490	Increased CSF lactate	9997	SCO2	OMIM:604377
HP:0002490	Increased CSF lactate	9997	SCO2	ORPHA:70474
HP:0002490	Increased CSF lactate	4558	MT-TF	ORPHA:550
HP:0002490	Increased CSF lactate	4572	MT-TQ	ORPHA:550
HP:0002490	Increased CSF lactate	4512	MT-CO1	ORPHA:550
HP:0002490	Increased CSF lactate	4513	MT-CO2	ORPHA:550
HP:0002490	Increased CSF lactate	4514	MT-CO3	ORPHA:550
HP:0002490	Increased CSF lactate	4578	MT-TW	ORPHA:550
HP:0002490	Increased CSF lactate	4578	MT-TW	ORPHA:255210
HP:0002490	Increased CSF lactate	4540	MT-ND5	ORPHA:550
HP:0002490	Increased CSF lactate	4540	MT-ND5	ORPHA:255210
HP:0002490	Increased CSF lactate	4541	MT-ND6	ORPHA:550
HP:0002490	Increased CSF lactate	4541	MT-ND6	ORPHA:255210
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:550
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:2609
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:255210
HP:0002490	Increased CSF lactate	4538	MT-ND4	ORPHA:550
HP:0002490	Increased CSF lactate	4538	MT-ND4	ORPHA:255210
HP:0002490	Increased CSF lactate	4567	MT-TL1	ORPHA:550
HP:0002490	Increased CSF lactate	4567	MT-TL1	ORPHA:255210
HP:0002490	Increased CSF lactate	4574	MT-TS1	ORPHA:550
HP:0002490	Increased CSF lactate	4574	MT-TS1	OMIM:220110
HP:0002490	Increased CSF lactate	4575	MT-TS2	ORPHA:550
HP:0002490	Increased CSF lactate	4564	MT-TH	ORPHA:550
HP:0002490	Increased CSF lactate	54539	NDUFB11	ORPHA:2609
HP:0002490	Increased CSF lactate	25915	NDUFAF3	ORPHA:2609
HP:0002490	Increased CSF lactate	25915	NDUFAF3	ORPHA:70474
HP:0002490	Increased CSF lactate	25915	NDUFAF3	OMIM:618240
HP:0002490	Increased CSF lactate	51103	NDUFAF1	ORPHA:2609
HP:0002490	Increased CSF lactate	91942	NDUFAF2	ORPHA:2609
HP:0002490	Increased CSF lactate	91942	NDUFAF2	OMIM:618233
HP:0002490	Increased CSF lactate	91942	NDUFAF2	ORPHA:255241
HP:0002490	Increased CSF lactate	51300	TIMMDC1	ORPHA:2609
HP:0002490	Increased CSF lactate	4716	NDUFB10	ORPHA:2609
HP:0002490	Increased CSF lactate	4723	NDUFV1	ORPHA:2609
HP:0002490	Increased CSF lactate	4723	NDUFV1	OMIM:618225
HP:0002490	Increased CSF lactate	4723	NDUFV1	ORPHA:255241
HP:0002490	Increased CSF lactate	55572	FOXRED1	ORPHA:2609
HP:0002490	Increased CSF lactate	55572	FOXRED1	ORPHA:255241
HP:0002490	Increased CSF lactate	284184	NDUFAF8	ORPHA:2609
HP:0002490	Increased CSF lactate	55863	TMEM126B	ORPHA:2609
HP:0002490	Increased CSF lactate	4537	MT-ND3	ORPHA:2609
HP:0002490	Increased CSF lactate	4537	MT-ND3	ORPHA:255210
HP:0002490	Increased CSF lactate	4729	NDUFV2	ORPHA:2609
HP:0002490	Increased CSF lactate	4729	NDUFV2	ORPHA:255241
HP:0002490	Increased CSF lactate	4694	NDUFA1	ORPHA:2609
HP:0002490	Increased CSF lactate	4720	NDUFS2	ORPHA:2609
HP:0002490	Increased CSF lactate	4720	NDUFS2	ORPHA:70474
HP:0002490	Increased CSF lactate	4720	NDUFS2	ORPHA:255241
HP:0002490	Increased CSF lactate	4724	NDUFS4	ORPHA:2609
HP:0002490	Increased CSF lactate	4724	NDUFS4	ORPHA:255241
HP:0002490	Increased CSF lactate	4724	NDUFS4	OMIM:252010
HP:0002490	Increased CSF lactate	4726	NDUFS6	ORPHA:2609
HP:0002490	Increased CSF lactate	4728	NDUFS8	ORPHA:2609
HP:0002490	Increased CSF lactate	4728	NDUFS8	ORPHA:255241
HP:0002490	Increased CSF lactate	4722	NDUFS3	ORPHA:2609
HP:0002490	Increased CSF lactate	4722	NDUFS3	OMIM:618230
HP:0002490	Increased CSF lactate	4722	NDUFS3	ORPHA:255241
HP:0002490	Increased CSF lactate	79133	NDUFAF5	ORPHA:2609
HP:0002490	Increased CSF lactate	79133	NDUFAF5	OMIM:618238
HP:0002490	Increased CSF lactate	79133	NDUFAF5	ORPHA:255241
HP:0002490	Increased CSF lactate	126328	NDUFA11	ORPHA:2609
HP:0002490	Increased CSF lactate	4709	NDUFB3	ORPHA:2609
HP:0002490	Increased CSF lactate	80224	NUBPL	ORPHA:2609
HP:0002490	Increased CSF lactate	80224	NUBPL	OMIM:618242
HP:0002490	Increased CSF lactate	29078	NDUFAF4	ORPHA:2609
HP:0002490	Increased CSF lactate	374291	NDUFS7	ORPHA:2609
HP:0002490	Increased CSF lactate	374291	NDUFS7	ORPHA:255241
HP:0002490	Increased CSF lactate	4700	NDUFA6	ORPHA:2609
HP:0002490	Increased CSF lactate	4700	NDUFA6	OMIM:618253
HP:0002490	Increased CSF lactate	4536	MT-ND2	ORPHA:2609
HP:0002490	Increased CSF lactate	4536	MT-ND2	ORPHA:255210
HP:0002490	Increased CSF lactate	4719	NDUFS1	ORPHA:2609
HP:0002490	Increased CSF lactate	4719	NDUFS1	OMIM:618226
HP:0002490	Increased CSF lactate	4719	NDUFS1	ORPHA:255241
HP:0002490	Increased CSF lactate	4715	NDUFB9	ORPHA:2609
HP:0002490	Increased CSF lactate	57128	LYRM4	OMIM:615595
HP:0002490	Increased CSF lactate	4570	MT-TN	OMIM:220110
HP:0002490	Increased CSF lactate	6834	SURF1	OMIM:220110
HP:0002490	Increased CSF lactate	6834	SURF1	ORPHA:70474
HP:0002490	Increased CSF lactate	6834	SURF1	ORPHA:255241
HP:0002490	Increased CSF lactate	64849	SLC13A3	OMIM:618384
HP:0002490	Increased CSF lactate	92609	TIMM50	OMIM:617698
HP:0002490	Increased CSF lactate	10059	DNM1L	OMIM:614388
HP:0002490	Increased CSF lactate	6513	SLC2A1	OMIM:612126
HP:0002490	Increased CSF lactate	85476	GFM1	OMIM:609060
HP:0002490	Increased CSF lactate	4191	MDH2	OMIM:617339
HP:0002490	Increased CSF lactate	84334	COA8	ORPHA:436271
HP:0002490	Increased CSF lactate	90624	LYRM7	OMIM:615838
HP:0002490	Increased CSF lactate	123263	MTFMT	OMIM:614947
HP:0002490	Increased CSF lactate	123263	MTFMT	ORPHA:255241
HP:0002490	Increased CSF lactate	8659	ALDH4A1	ORPHA:79101
HP:0002490	Increased CSF lactate	10667	FARS2	OMIM:614946
HP:0002490	Increased CSF lactate	8050	PDHX	ORPHA:255182
HP:0002490	Increased CSF lactate	4714	NDUFB8	ORPHA:70474
HP:0002490	Increased CSF lactate	4714	NDUFB8	OMIM:618252
HP:0002490	Increased CSF lactate	4577	MT-TV	ORPHA:255210
HP:0002490	Increased CSF lactate	4508	MT-ATP6	ORPHA:255210
HP:0002490	Increased CSF lactate	4566	MT-TK	ORPHA:255210
HP:0002490	Increased CSF lactate	51112	TRAPPC12	ORPHA:500144
HP:0002490	Increased CSF lactate	128240	NAXE	OMIM:617186
HP:0002490	Increased CSF lactate	291	SLC25A4	OMIM:617184
HP:0002490	Increased CSF lactate	291	SLC25A4	OMIM:615418
HP:0002490	Increased CSF lactate	65993	MRPS34	OMIM:617664
HP:0002490	Increased CSF lactate	25828	TXN2	ORPHA:478029
HP:0002490	Increased CSF lactate	25828	TXN2	OMIM:616811
HP:0002490	Increased CSF lactate	5160	PDHA1	OMIM:312170
HP:0002490	Increased CSF lactate	5160	PDHA1	ORPHA:255241
HP:0002490	Increased CSF lactate	5160	PDHA1	ORPHA:79243
HP:0002490	Increased CSF lactate	56997	COQ8A	ORPHA:139485
HP:0002490	Increased CSF lactate	56997	COQ8A	OMIM:612016
HP:0002490	Increased CSF lactate	1352	COX10	OMIM:619046
HP:0002490	Increased CSF lactate	84340	GFM2	OMIM:618397
HP:0002490	Increased CSF lactate	84340	GFM2	ORPHA:565624
HP:0002490	Increased CSF lactate	54931	TRMT10C	OMIM:616974
HP:0002490	Increased CSF lactate	539	ATP5PO	OMIM:620359
HP:0002490	Increased CSF lactate	57038	RARS2	OMIM:611523
HP:0002490	Increased CSF lactate	4204	MECP2	ORPHA:778
HP:0002490	Increased CSF lactate	87178	PNPT1	ORPHA:319514
HP:0002490	Increased CSF lactate	87178	PNPT1	OMIM:614932
HP:0002490	Increased CSF lactate	1340	COX6B1	OMIM:619051
HP:0002490	Increased CSF lactate	6389	SDHA	ORPHA:255241
HP:0002490	Increased CSF lactate	80704	SLC19A3	ORPHA:255241
HP:0002490	Increased CSF lactate	55967	NDUFA12	ORPHA:255241
HP:0002490	Increased CSF lactate	55967	NDUFA12	OMIM:618244
HP:0002490	Increased CSF lactate	51204	TACO1	ORPHA:255241
HP:0002490	Increased CSF lactate	137682	NDUFAF6	ORPHA:255241
HP:0002490	Increased CSF lactate	100131801	PET100	ORPHA:255241
HP:0002490	Increased CSF lactate	100131801	PET100	OMIM:619055
HP:0002490	Increased CSF lactate	1355	COX15	ORPHA:255241
HP:0002490	Increased CSF lactate	1892	ECHS1	ORPHA:255241
HP:0002490	Increased CSF lactate	1892	ECHS1	OMIM:616277
HP:0002490	Increased CSF lactate	51079	NDUFA13	ORPHA:255241
HP:0002490	Increased CSF lactate	4705	NDUFA10	ORPHA:255241
HP:0002490	Increased CSF lactate	4705	NDUFA10	OMIM:618243
HP:0002490	Increased CSF lactate	51601	LIPT1	ORPHA:255241
HP:0002490	Increased CSF lactate	4695	NDUFA2	ORPHA:255241
HP:0002490	Increased CSF lactate	4697	NDUFA4	ORPHA:255241
HP:0002490	Increased CSF lactate	4697	NDUFA4	OMIM:619065
HP:0002490	Increased CSF lactate	4704	NDUFA9	ORPHA:255241
HP:0002490	Increased CSF lactate	84987	COX14	OMIM:619053
HP:0002490	Increased CSF lactate	1351	COX8A	OMIM:619059
HP:0002490	Increased CSF lactate	4358	MPV17	OMIM:618400
HP:0002490	Increased CSF lactate	116228	COX20	OMIM:619054
HP:0002490	Increased CSF lactate	200205	IBA57	OMIM:615330
HP:0002490	Increased CSF lactate	60386	SLC25A19	OMIM:613710
HP:0002490	Increased CSF lactate	55157	DARS2	ORPHA:137898
HP:0002490	Increased CSF lactate	55005	RMND1	OMIM:614922
HP:0002490	Increased CSF lactate	64116	SLC39A8	ORPHA:468699
HP:0002490	Increased CSF lactate	9361	LONP1	ORPHA:79243
HP:0002490	Increased CSF lactate	91647	ATPAF2	OMIM:604273
HP:0002490	Increased CSF lactate	8802	SUCLG1	OMIM:245400
HP:0002490	Increased CSF lactate	8802	SUCLG1	ORPHA:17
HP:0002490	Increased CSF lactate	100303755	PET117	OMIM:619063
HP:0002490	Increased CSF lactate	27247	NFU1	OMIM:605711
HP:0002490	Increased CSF lactate	1327	COX4I1	OMIM:619060
HP:0002490	Increased CSF lactate	84842	HPDL	OMIM:619026
HP:0002490	Increased CSF lactate	81570	CLPB	OMIM:616271
HP:0002490	Increased CSF lactate	8803	SUCLA2	OMIM:612073
HP:0002490	Increased CSF lactate	790955	UQCC3	OMIM:616111
HP:0002490	Increased CSF lactate	133686	NADK2	OMIM:616034
HP:0002490	Increased CSF lactate	50484	RRM2B	OMIM:612075
HP:0002490	Increased CSF lactate	27429	HTRA2	OMIM:617248
HP:0002490	Increased CSF lactate	84300	UQCC2	OMIM:615824
HP:0002490	Increased CSF lactate	79731	NARS2	OMIM:616239
HP:0002490	Increased CSF lactate	27010	TPK1	OMIM:614458
HP:0002490	Increased CSF lactate	3028	HSD17B10	ORPHA:391428
HP:0002491	Spasticity of facial muscles	57679	ALS2	OMIM:205100
HP:0002491	Spasticity of facial muscles	57679	ALS2	OMIM:606353
HP:0002491	Spasticity of facial muscles	6329	SCN4A	ORPHA:99734
HP:0002493	Upper motor neuron dysfunction	1718	DHCR24	OMIM:602398
HP:0002493	Upper motor neuron dysfunction	1718	DHCR24	ORPHA:35107
HP:0002493	Upper motor neuron dysfunction	104	ADARB1	OMIM:618862
HP:0002493	Upper motor neuron dysfunction	23019	CNOT1	OMIM:618500
HP:0002493	Upper motor neuron dysfunction	55823	VPS11	OMIM:616683
HP:0002493	Upper motor neuron dysfunction	55823	VPS11	ORPHA:466934
HP:0002493	Upper motor neuron dysfunction	51569	UFM1	OMIM:617899
HP:0002493	Upper motor neuron dysfunction	81857	MED25	OMIM:616449
HP:0002493	Upper motor neuron dysfunction	81857	MED25	ORPHA:464738
HP:0002493	Upper motor neuron dysfunction	4536	MT-ND2	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4537	MT-ND3	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	3020	H3-3A	OMIM:619720
HP:0002493	Upper motor neuron dysfunction	65993	MRPS34	OMIM:617664
HP:0002493	Upper motor neuron dysfunction	10300	KATNB1	OMIM:616212
HP:0002493	Upper motor neuron dysfunction	166378	AFG2A	OMIM:616577
HP:0002493	Upper motor neuron dysfunction	288	ANK3	OMIM:615493
HP:0002493	Upper motor neuron dysfunction	288	ANK3	ORPHA:356996
HP:0002493	Upper motor neuron dysfunction	10111	RAD50	OMIM:613078
HP:0002493	Upper motor neuron dysfunction	55681	SCYL2	OMIM:618766
HP:0002493	Upper motor neuron dysfunction	283987	HID1	OMIM:619983
HP:0002493	Upper motor neuron dysfunction	4571	MT-TP	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	4565	MT-TI	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	25930	PTPN23	OMIM:618890
HP:0002493	Upper motor neuron dysfunction	388962	BOLA3	OMIM:614299
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	23007	PLCH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	10735	STAG2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	10735	STAG2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	79731	NARS2	OMIM:616239
HP:0002493	Upper motor neuron dysfunction	11315	PARK7	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	27429	HTRA2	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	120892	LRRK2	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	65018	PINK1	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	5071	PRKN	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	3737	KCNA2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	8120	AP3B2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	10991	SLC38A3	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51343	FZR1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51343	FZR1	OMIM:620145
HP:0002493	Upper motor neuron dysfunction	22906	TRAK1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	22906	TRAK1	OMIM:618201
HP:0002493	Upper motor neuron dysfunction	2566	GABRG2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	1917	EEF1A2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2561	GABRB2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2561	GABRB2	OMIM:617829
HP:0002493	Upper motor neuron dysfunction	7532	YWHAG	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2558	GABRA5	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2558	GABRA5	OMIM:618559
HP:0002493	Upper motor neuron dysfunction	781	CACNA2D1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	781	CACNA2D1	OMIM:620149
HP:0002493	Upper motor neuron dysfunction	2906	GRIN2D	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	10659	CELF2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	774	CACNA1B	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	23334	SZT2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	348980	HCN1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	3745	KCNB1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	ORPHA:1946
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	OMIM:615905
HP:0002493	Upper motor neuron dysfunction	25977	NECAP1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	6334	SCN8A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	22866	CNKSR2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	9568	GABBR2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	9568	GABBR2	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	2555	GABRA2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2555	GABRA2	OMIM:618557
HP:0002493	Upper motor neuron dysfunction	55152	DALRD3	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	26999	CYFIP2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	26999	CYFIP2	OMIM:618008
HP:0002493	Upper motor neuron dysfunction	23097	CDK19	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	64801	ARV1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79947	DHDDS	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79947	DHDDS	OMIM:613861
HP:0002493	Upper motor neuron dysfunction	2257	FGF12	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	5530	PPP3CA	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	5530	PPP3CA	OMIM:617711
HP:0002493	Upper motor neuron dysfunction	29081	METTL5	OMIM:618665
HP:0002493	Upper motor neuron dysfunction	55773	TBC1D23	OMIM:617695
HP:0002493	Upper motor neuron dysfunction	1182	CLCN3	OMIM:619517
HP:0002493	Upper motor neuron dysfunction	92609	TIMM50	OMIM:617698
HP:0002493	Upper motor neuron dysfunction	92609	TIMM50	ORPHA:505216
HP:0002493	Upper motor neuron dysfunction	51692	CPSF3	OMIM:619876
HP:0002493	Upper motor neuron dysfunction	8021	NUP214	OMIM:618426
HP:0002493	Upper motor neuron dysfunction	285362	SUMF1	OMIM:272200
HP:0002493	Upper motor neuron dysfunction	472	ATM	ORPHA:100
HP:0002493	Upper motor neuron dysfunction	4644	MYO5A	ORPHA:33445
HP:0002493	Upper motor neuron dysfunction	9533	POLR1C	OMIM:616494
HP:0002493	Upper motor neuron dysfunction	79991	STN1	OMIM:617341
HP:0002493	Upper motor neuron dysfunction	9276	COPB2	OMIM:619884
HP:0002493	Upper motor neuron dysfunction	9276	COPB2	OMIM:617800
HP:0002493	Upper motor neuron dysfunction	122961	ISCA2	OMIM:616370
HP:0002493	Upper motor neuron dysfunction	8733	GPAA1	ORPHA:529665
HP:0002493	Upper motor neuron dysfunction	8733	GPAA1	OMIM:617810
HP:0002493	Upper motor neuron dysfunction	27086	FOXP1	ORPHA:391372
HP:0002493	Upper motor neuron dysfunction	253959	RALGAPA1	OMIM:618797
HP:0002493	Upper motor neuron dysfunction	11041	B4GAT1	OMIM:615287
HP:0002493	Upper motor neuron dysfunction	2232	FDXR	ORPHA:543470
HP:0002493	Upper motor neuron dysfunction	113179	ADAT3	OMIM:615286
HP:0002493	Upper motor neuron dysfunction	113179	ADAT3	ORPHA:363528
HP:0002493	Upper motor neuron dysfunction	6942	TCF20	OMIM:618430
HP:0002493	Upper motor neuron dysfunction	56947	MFF	ORPHA:485421
HP:0002493	Upper motor neuron dysfunction	56947	MFF	OMIM:617086
HP:0002493	Upper motor neuron dysfunction	2904	GRIN2B	OMIM:616139
HP:0002493	Upper motor neuron dysfunction	2904	GRIN2B	OMIM:613970
HP:0002493	Upper motor neuron dysfunction	146227	BEAN1	ORPHA:217012
HP:0002493	Upper motor neuron dysfunction	9968	MED12	OMIM:305450
HP:0002493	Upper motor neuron dysfunction	38	ACAT1	ORPHA:134
HP:0002493	Upper motor neuron dysfunction	23556	PIGN	OMIM:614080
HP:0002493	Upper motor neuron dysfunction	23162	MAPK8IP3	OMIM:618443
HP:0002493	Upper motor neuron dysfunction	79989	IFT56	OMIM:619534
HP:0002493	Upper motor neuron dysfunction	23499	MACF1	OMIM:618325
HP:0002493	Upper motor neuron dysfunction	23499	MACF1	ORPHA:572013
HP:0002493	Upper motor neuron dysfunction	374969	SVBP	OMIM:618569
HP:0002493	Upper motor neuron dysfunction	79641	ROGDI	ORPHA:1946
HP:0002493	Upper motor neuron dysfunction	79641	ROGDI	OMIM:226750
HP:0002493	Upper motor neuron dysfunction	8813	DPM1	ORPHA:79322
HP:0002493	Upper motor neuron dysfunction	1967	EIF2B1	OMIM:603896
HP:0002493	Upper motor neuron dysfunction	7040	TGFB1	OMIM:618213
HP:0002493	Upper motor neuron dysfunction	205327	C2orf69	OMIM:619423
HP:0002493	Upper motor neuron dysfunction	164	AP1G1	OMIM:619548
HP:0002493	Upper motor neuron dysfunction	164	AP1G1	OMIM:619467
HP:0002493	Upper motor neuron dysfunction	6792	CDKL5	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	6792	CDKL5	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	9091	PIGQ	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2775	GNAO1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2775	GNAO1	OMIM:617493
HP:0002493	Upper motor neuron dysfunction	81603	TRIM8	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	79751	SLC25A22	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	79751	SLC25A22	OMIM:609304
HP:0002493	Upper motor neuron dysfunction	150094	SIK1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	8573	CASK	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	8573	CASK	OMIM:300749
HP:0002493	Upper motor neuron dysfunction	8573	CASK	ORPHA:163937
HP:0002493	Upper motor neuron dysfunction	2917	GRM7	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	51227	PIGP	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	4761	NEUROD2	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	1203	CLN5	ORPHA:228360
HP:0002493	Upper motor neuron dysfunction	84894	LINGO1	OMIM:618103
HP:0002493	Upper motor neuron dysfunction	85476	GFM1	OMIM:609060
HP:0002493	Upper motor neuron dysfunction	128869	PIGU	OMIM:618590
HP:0002493	Upper motor neuron dysfunction	22854	NTNG1	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	6651	SON	OMIM:617140
HP:0002493	Upper motor neuron dysfunction	6651	SON	ORPHA:500150
HP:0002493	Upper motor neuron dysfunction	10978	CLP1	ORPHA:411493
HP:0002493	Upper motor neuron dysfunction	10978	CLP1	OMIM:615803
HP:0002493	Upper motor neuron dysfunction	112939	NACC1	ORPHA:500545
HP:0002493	Upper motor neuron dysfunction	112939	NACC1	OMIM:617393
HP:0002493	Upper motor neuron dysfunction	1654	DDX3X	ORPHA:457260
HP:0002493	Upper motor neuron dysfunction	1654	DDX3X	OMIM:300958
HP:0002493	Upper motor neuron dysfunction	6833	ABCC8	OMIM:240800
HP:0002493	Upper motor neuron dysfunction	387119	CEP85L	ORPHA:572013
HP:0002493	Upper motor neuron dysfunction	1725	DHPS	OMIM:618480
HP:0002493	Upper motor neuron dysfunction	56915	EXOSC5	OMIM:619576
HP:0002493	Upper motor neuron dysfunction	51132	RLIM	OMIM:300978
HP:0002493	Upper motor neuron dysfunction	10588	MTHFS	OMIM:618367
HP:0002493	Upper motor neuron dysfunction	63925	ZNF335	OMIM:615095
HP:0002493	Upper motor neuron dysfunction	92255	LMBRD2	OMIM:619694
HP:0002493	Upper motor neuron dysfunction	54834	GDAP2	OMIM:618369
HP:0002493	Upper motor neuron dysfunction	3376	IARS1	ORPHA:541423
HP:0002493	Upper motor neuron dysfunction	3376	IARS1	OMIM:617093
HP:0002493	Upper motor neuron dysfunction	23203	PMPCA	OMIM:213200
HP:0002493	Upper motor neuron dysfunction	23203	PMPCA	ORPHA:1170
HP:0002493	Upper motor neuron dysfunction	4864	NPC1	OMIM:257220
HP:0002493	Upper motor neuron dysfunction	8604	SLC25A12	OMIM:612949
HP:0002493	Upper motor neuron dysfunction	1781	DYNC1I2	OMIM:618492
HP:0002493	Upper motor neuron dysfunction	112812	FDX2	OMIM:251900
HP:0002493	Upper motor neuron dysfunction	2743	GLRB	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	2741	GLRA1	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	10243	GPHN	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	84896	ATAD1	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	9152	SLC6A5	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	2009	EML1	OMIM:600348
HP:0002493	Upper motor neuron dysfunction	9758	FRMPD4	OMIM:300983
HP:0002493	Upper motor neuron dysfunction	4700	NDUFA6	OMIM:618253
HP:0002493	Upper motor neuron dysfunction	8635	RNASET2	OMIM:612951
HP:0002493	Upper motor neuron dysfunction	64374	SIL1	ORPHA:559
HP:0002493	Upper motor neuron dysfunction	64374	SIL1	OMIM:248800
HP:0002493	Upper motor neuron dysfunction	6697	SPR	OMIM:612716
HP:0002493	Upper motor neuron dysfunction	57187	THOC2	OMIM:300957
HP:0002493	Upper motor neuron dysfunction	27107	ZBTB11	OMIM:618383
HP:0002493	Upper motor neuron dysfunction	378884	NHLRC1	ORPHA:501
HP:0002493	Upper motor neuron dysfunction	7957	EPM2A	ORPHA:501
HP:0002493	Upper motor neuron dysfunction	55670	PEX26	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5824	PEX19	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5828	PEX2	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	8799	PEX11B	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5830	PEX5	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5189	PEX1	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5193	PEX12	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5194	PEX13	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5195	PEX14	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	1315	COPB1	OMIM:619255
HP:0002493	Upper motor neuron dysfunction	283	ANG	OMIM:611895
HP:0002493	Upper motor neuron dysfunction	283	ANG	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5216	PFN1	OMIM:614808
HP:0002493	Upper motor neuron dysfunction	5216	PFN1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	23236	PLCB1	OMIM:613722
HP:0002493	Upper motor neuron dysfunction	11342	RNF13	ORPHA:544503
HP:0002493	Upper motor neuron dysfunction	27445	PCLO	OMIM:608027
HP:0002493	Upper motor neuron dysfunction	50640	PNPLA8	OMIM:251950
HP:0002493	Upper motor neuron dysfunction	11113	CIT	OMIM:617090
HP:0002493	Upper motor neuron dysfunction	27183	VPS4A	OMIM:619273
HP:0002493	Upper motor neuron dysfunction	10128	LRPPRC	OMIM:220111
HP:0002493	Upper motor neuron dysfunction	10128	LRPPRC	ORPHA:70472
HP:0002493	Upper motor neuron dysfunction	6535	SLC6A8	OMIM:300352
HP:0002493	Upper motor neuron dysfunction	375	ARF1	OMIM:618185
HP:0002493	Upper motor neuron dysfunction	5393	EXOSC9	OMIM:618065
HP:0002493	Upper motor neuron dysfunction	5393	EXOSC9	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	83700	JAM3	OMIM:613730
HP:0002493	Upper motor neuron dysfunction	25821	MTO1	OMIM:614702
HP:0002493	Upper motor neuron dysfunction	4983	OPHN1	OMIM:300486
HP:0002493	Upper motor neuron dysfunction	9442	MED27	OMIM:619286
HP:0002493	Upper motor neuron dysfunction	9640	ZNF592	ORPHA:83472
HP:0002493	Upper motor neuron dysfunction	57582	KCNT1	OMIM:614959
HP:0002493	Upper motor neuron dysfunction	4718	NDUFC2	OMIM:619170
HP:0002493	Upper motor neuron dysfunction	1738	DLD	ORPHA:2394
HP:0002493	Upper motor neuron dysfunction	1351	COX8A	OMIM:619059
HP:0002493	Upper motor neuron dysfunction	5119	CHMP1A	OMIM:614961
HP:0002493	Upper motor neuron dysfunction	1509	CTSD	OMIM:610127
HP:0002493	Upper motor neuron dysfunction	23325	WASHC4	OMIM:615817
HP:0002493	Upper motor neuron dysfunction	815	CAMK2A	OMIM:618095
HP:0002493	Upper motor neuron dysfunction	9839	ZEB2	ORPHA:261552
HP:0002493	Upper motor neuron dysfunction	9839	ZEB2	ORPHA:261537
HP:0002493	Upper motor neuron dysfunction	9445	ITM2B	OMIM:117300
HP:0002493	Upper motor neuron dysfunction	9445	ITM2B	OMIM:176500
HP:0002493	Upper motor neuron dysfunction	26053	AUTS2	ORPHA:352490
HP:0002493	Upper motor neuron dysfunction	10382	TUBB4A	OMIM:612438
HP:0002493	Upper motor neuron dysfunction	84947	SERAC1	OMIM:614739
HP:0002493	Upper motor neuron dysfunction	7025	NR2F1	ORPHA:401777
HP:0002493	Upper motor neuron dysfunction	7025	NR2F1	OMIM:615722
HP:0002493	Upper motor neuron dysfunction	149371	EXOC8	OMIM:619076
HP:0002493	Upper motor neuron dysfunction	6804	STX1A	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	7461	CLIP2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	84277	DNAJC30	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	8468	FKBP6	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	5982	RFC2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	2969	GTF2I	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	3984	LIMK1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	9569	GTF2IRD1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	155382	VPS37D	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	155368	METTL27	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	114049	BUD23	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	7458	EIF4H	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	84163	GTF2IRD2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	9275	BCL7B	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	26608	TBL2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	653361	NCF1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	135886	TMEM270	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	51085	MLXIPL	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	9031	BAZ1B	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	2006	ELN	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	51010	EXOSC3	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	51010	EXOSC3	OMIM:614678
HP:0002493	Upper motor neuron dysfunction	7443	VRK1	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	OMIM:278780
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	ORPHA:220295
HP:0002493	Upper motor neuron dysfunction	6609	SMPD1	OMIM:257200
HP:0002493	Upper motor neuron dysfunction	6558	SLC12A2	OMIM:619083
HP:0002493	Upper motor neuron dysfunction	56623	INPP5E	OMIM:610156
HP:0002493	Upper motor neuron dysfunction	9440	MED17	OMIM:613668
HP:0002493	Upper motor neuron dysfunction	25828	TXN2	OMIM:616811
HP:0002493	Upper motor neuron dysfunction	50628	GEMIN4	OMIM:617913
HP:0002493	Upper motor neuron dysfunction	2146	EZH2	OMIM:277590
HP:0002493	Upper motor neuron dysfunction	2146	EZH2	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	8148	TAF15	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5445	PON2	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5630	PRPH	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5630	PRPH	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	55830	GLT8D1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	755	CFAP410	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	10891	PPARGC1A	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	10133	OPTN	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1639	DCTN1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1639	DCTN1	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	5444	PON1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5446	PON3	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	9782	MATR3	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	29978	UBQLN2	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2733	GLE1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2043	EPHA4	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1610	DAO	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2066	ERBB4	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	23025	UNC13A	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	899	CCNF	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	64324	NSD1	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	8726	EED	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	23512	SUZ12	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	84978	FRMD5	OMIM:620094
HP:0002493	Upper motor neuron dysfunction	9894	TELO2	OMIM:616954
HP:0002493	Upper motor neuron dysfunction	9894	TELO2	ORPHA:488642
HP:0002493	Upper motor neuron dysfunction	57410	SCYL1	OMIM:616719
HP:0002493	Upper motor neuron dysfunction	57410	SCYL1	ORPHA:466794
HP:0002493	Upper motor neuron dysfunction	9230	RAB11B	OMIM:617807
HP:0002493	Upper motor neuron dysfunction	7507	XPA	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	7507	XPA	OMIM:278700
HP:0002493	Upper motor neuron dysfunction	7508	XPC	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	1643	DDB2	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	55906	ZC4H2	OMIM:301041
HP:0002493	Upper motor neuron dysfunction	55906	ZC4H2	OMIM:314580
HP:0002493	Upper motor neuron dysfunction	7167	TPI1	OMIM:615512
HP:0002493	Upper motor neuron dysfunction	9698	PUM1	OMIM:617931
HP:0002493	Upper motor neuron dysfunction	29926	GMPPA	OMIM:615510
HP:0002493	Upper motor neuron dysfunction	2290	FOXG1	OMIM:613454
HP:0002493	Upper motor neuron dysfunction	53616	ADAM22	OMIM:617933
HP:0002493	Upper motor neuron dysfunction	91147	TMEM67	OMIM:216360
HP:0002493	Upper motor neuron dysfunction	79644	SRD5A3	OMIM:612379
HP:0002493	Upper motor neuron dysfunction	91869	RFT1	OMIM:612015
HP:0002493	Upper motor neuron dysfunction	2891	GRIA2	OMIM:618917
HP:0002493	Upper motor neuron dysfunction	23732	FRRS1L	OMIM:616981
HP:0002493	Upper motor neuron dysfunction	9512	PMPCB	OMIM:617954
HP:0002493	Upper motor neuron dysfunction	54463	RETREG1	OMIM:613115
HP:0002493	Upper motor neuron dysfunction	100506658	OCLN	ORPHA:1229
HP:0002493	Upper motor neuron dysfunction	100506658	OCLN	OMIM:251290
HP:0002493	Upper motor neuron dysfunction	84693	MCEE	OMIM:251120
HP:0002493	Upper motor neuron dysfunction	5422	POLA1	OMIM:301030
HP:0002493	Upper motor neuron dysfunction	1641	DCX	OMIM:300067
HP:0002493	Upper motor neuron dysfunction	175	AGA	OMIM:208400
HP:0002493	Upper motor neuron dysfunction	81689	ISCA1	OMIM:617613
HP:0002493	Upper motor neuron dysfunction	22934	RPIA	OMIM:608611
HP:0002493	Upper motor neuron dysfunction	25915	NDUFAF3	ORPHA:70474
HP:0002493	Upper motor neuron dysfunction	4714	NDUFB8	ORPHA:70474
HP:0002493	Upper motor neuron dysfunction	9997	SCO2	ORPHA:70474
HP:0002493	Upper motor neuron dysfunction	23209	MLC1	OMIM:604004
HP:0002493	Upper motor neuron dysfunction	26503	SLC17A5	OMIM:604369
HP:0002493	Upper motor neuron dysfunction	79867	TCTN2	OMIM:616654
HP:0002493	Upper motor neuron dysfunction	3832	KIF11	ORPHA:2526
HP:0002493	Upper motor neuron dysfunction	617	BCS1L	OMIM:124000
HP:0002493	Upper motor neuron dysfunction	84628	NTNG2	OMIM:618718
HP:0002493	Upper motor neuron dysfunction	10577	NPC2	OMIM:607625
HP:0002493	Upper motor neuron dysfunction	5873	RAB27A	OMIM:607624
HP:0002493	Upper motor neuron dysfunction	54888	NSUN2	OMIM:611091
HP:0002493	Upper motor neuron dysfunction	54802	TRIT1	OMIM:617873
HP:0002493	Upper motor neuron dysfunction	23545	ATP6V0A2	ORPHA:357074
HP:0002493	Upper motor neuron dysfunction	529	ATP6V1E1	ORPHA:357074
HP:0002493	Upper motor neuron dysfunction	5538	PPT1	OMIM:256730
HP:0002493	Upper motor neuron dysfunction	100151683	RNU4ATAC	ORPHA:2636
HP:0002493	Upper motor neuron dysfunction	9439	MED23	OMIM:614249
HP:0002493	Upper motor neuron dysfunction	79583	TMEM231	ORPHA:2752
HP:0002493	Upper motor neuron dysfunction	8884	SLC5A6	OMIM:618973
HP:0002493	Upper motor neuron dysfunction	8803	SUCLA2	OMIM:612073
HP:0002493	Upper motor neuron dysfunction	10844	TUBGCP2	OMIM:618737
HP:0002493	Upper motor neuron dysfunction	4858	NOVA2	OMIM:618859
HP:0002493	Upper motor neuron dysfunction	55753	OGDHL	OMIM:619701
HP:0002493	Upper motor neuron dysfunction	5133	PDCD1	OMIM:126200
HP:0002493	Upper motor neuron dysfunction	3123	HLA-DRB1	OMIM:126200
HP:0002493	Upper motor neuron dysfunction	3912	LAMB1	OMIM:615191
HP:0002493	Upper motor neuron dysfunction	8504	PEX3	OMIM:617370
HP:0002493	Upper motor neuron dysfunction	55182	RNF220	OMIM:619688
HP:0002493	Upper motor neuron dysfunction	518	ATP5MC3	OMIM:619681
HP:0002493	Upper motor neuron dysfunction	5077	PAX3	ORPHA:896
HP:0002493	Upper motor neuron dysfunction	5077	PAX3	OMIM:148820
HP:0002493	Upper motor neuron dysfunction	546	ATRX	ORPHA:847
HP:0002493	Upper motor neuron dysfunction	1130	LYST	ORPHA:167
HP:0002493	Upper motor neuron dysfunction	26154	ABCA12	OMIM:601277
HP:0002493	Upper motor neuron dysfunction	953	ENTPD1	OMIM:615683
HP:0002493	Upper motor neuron dysfunction	55656	INTS8	OMIM:618572
HP:0002493	Upper motor neuron dysfunction	137492	VPS37A	OMIM:614898
HP:0002493	Upper motor neuron dysfunction	1499	CTNNB1	OMIM:615075
HP:0002493	Upper motor neuron dysfunction	8260	NAA10	OMIM:309800
HP:0002493	Upper motor neuron dysfunction	8905	AP1S2	ORPHA:85335
HP:0002493	Upper motor neuron dysfunction	8050	PDHX	ORPHA:255182
HP:0002493	Upper motor neuron dysfunction	6872	TAF1	OMIM:300966
HP:0002493	Upper motor neuron dysfunction	6872	TAF1	ORPHA:480907
HP:0002493	Upper motor neuron dysfunction	2316	FLNA	OMIM:300048
HP:0002493	Upper motor neuron dysfunction	3295	HSD17B4	OMIM:233400
HP:0002493	Upper motor neuron dysfunction	10084	PQBP1	ORPHA:93947
HP:0002493	Upper motor neuron dysfunction	16	AARS1	OMIM:619691
HP:0002493	Upper motor neuron dysfunction	55250	ELP2	OMIM:617270
HP:0002493	Upper motor neuron dysfunction	22930	RAB3GAP1	OMIM:600118
HP:0002493	Upper motor neuron dysfunction	22930	RAB3GAP1	OMIM:619420
HP:0002493	Upper motor neuron dysfunction	4915	NTRK2	OMIM:617830
HP:0002493	Upper motor neuron dysfunction	10381	TUBB3	ORPHA:300570
HP:0002493	Upper motor neuron dysfunction	120	ADD3	OMIM:617008
HP:0002493	Upper motor neuron dysfunction	128989	TANGO2	OMIM:616878
HP:0002493	Upper motor neuron dysfunction	4990	SIX6	OMIM:206900
HP:0002493	Upper motor neuron dysfunction	6657	SOX2	OMIM:206900
HP:0002493	Upper motor neuron dysfunction	10075	HUWE1	OMIM:309590
HP:0002493	Upper motor neuron dysfunction	3028	HSD17B10	ORPHA:391428
HP:0002493	Upper motor neuron dysfunction	5654	HTRA1	ORPHA:199354
HP:0002493	Upper motor neuron dysfunction	4558	MT-TF	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4558	MT-TF	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4572	MT-TQ	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4572	MT-TQ	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4512	MT-CO1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4512	MT-CO1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4513	MT-CO2	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4513	MT-CO2	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4514	MT-CO3	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4514	MT-CO3	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4578	MT-TW	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4578	MT-TW	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4540	MT-ND5	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4540	MT-ND5	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4541	MT-ND6	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4541	MT-ND6	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4535	MT-ND1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4535	MT-ND1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4538	MT-ND4	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4567	MT-TL1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4567	MT-TL1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4574	MT-TS1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4574	MT-TS1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4575	MT-TS2	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4575	MT-TS2	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4564	MT-TH	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	2982	GUCY1A1	OMIM:615750
HP:0002493	Upper motor neuron dysfunction	11277	TREX1	OMIM:192315
HP:0002493	Upper motor neuron dysfunction	11277	TREX1	ORPHA:247691
HP:0002493	Upper motor neuron dysfunction	8314	BAP1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	4771	NF2	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	4771	NF2	ORPHA:637
HP:0002493	Upper motor neuron dysfunction	6598	SMARCB1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	5155	PDGFB	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	84231	TRAF7	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	6608	SMO	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	207	AKT1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	5290	PIK3CA	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	5290	PIK3CA	ORPHA:99802
HP:0002493	Upper motor neuron dysfunction	7015	TERT	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	51684	SUFU	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	6605	SMARCE1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	23600	AMACR	OMIM:614307
HP:0002493	Upper motor neuron dysfunction	7174	TPP2	ORPHA:444463
HP:0002493	Upper motor neuron dysfunction	8405	SPOP	OMIM:618829
HP:0002493	Upper motor neuron dysfunction	347733	TUBB2B	OMIM:610031
HP:0002493	Upper motor neuron dysfunction	347733	TUBB2B	ORPHA:300573
HP:0002493	Upper motor neuron dysfunction	2475	MTOR	ORPHA:99802
HP:0002493	Upper motor neuron dysfunction	2475	MTOR	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	10000	AKT3	ORPHA:99802
HP:0002493	Upper motor neuron dysfunction	10551	AGR2	OMIM:620233
HP:0002493	Upper motor neuron dysfunction	3516	RBPJ	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	4851	NOTCH1	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	57514	ARHGAP31	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	57572	DOCK6	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	285203	EOGT	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	54567	DLL4	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	284403	WDR62	OMIM:604317
HP:0002493	Upper motor neuron dysfunction	10059	DNM1L	ORPHA:98673
HP:0002493	Upper motor neuron dysfunction	4976	OPA1	ORPHA:98673
HP:0002493	Upper motor neuron dysfunction	4511	MT-TC	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4566	MT-TK	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4577	MT-TV	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	23221	RHOBTB2	OMIM:618004
HP:0002493	Upper motor neuron dysfunction	9692	PRORP	OMIM:619737
HP:0002493	Upper motor neuron dysfunction	340665	CYP26C1	ORPHA:398189
HP:0002493	Upper motor neuron dysfunction	3119	HLA-DQB1	OMIM:123400
HP:0002493	Upper motor neuron dysfunction	3265	HRAS	ORPHA:2874
HP:0002493	Upper motor neuron dysfunction	7248	TSC1	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	7249	TSC2	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	2632	GBE1	ORPHA:206583
HP:0002493	Upper motor neuron dysfunction	6899	TBX1	OMIM:188400
HP:0002493	Upper motor neuron dysfunction	7098	TLR3	OMIM:613002
HP:0002493	Upper motor neuron dysfunction	8398	PLA2G6	OMIM:612953
HP:0002493	Upper motor neuron dysfunction	3075	CFH	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	3078	CFHR1	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	10878	CFHR3	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	55901	THSD1	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	7049	TGFBR3	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	1281	COL3A1	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	83854	ANGPTL6	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	2022	ENG	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	149233	IL23R	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3586	IL10	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	4210	MEFV	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	1230	CCR1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	355	FAS	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3592	IL12A	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	101928376	IL12A-AS1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3106	HLA-B	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	7099	TLR4	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3459	IFNGR1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	720	C4A	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	337867	UBAC2	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	51752	ERAP1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	8302	KLRC4	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	84065	TMEM222	OMIM:619470
HP:0002493	Upper motor neuron dysfunction	11340	EXOSC8	OMIM:616081
HP:0002493	Upper motor neuron dysfunction	8243	SMC1A	OMIM:301044
HP:0002493	Upper motor neuron dysfunction	10617	STAMBP	OMIM:614261
HP:0002493	Upper motor neuron dysfunction	51399	TRAPPC4	OMIM:618741
HP:0002493	Upper motor neuron dysfunction	6659	SOX4	OMIM:618506
HP:0002493	Upper motor neuron dysfunction	7355	SLC35A2	ORPHA:356961
HP:0002493	Upper motor neuron dysfunction	84334	COA8	ORPHA:436271
HP:0002493	Upper motor neuron dysfunction	84334	COA8	OMIM:619061
HP:0002493	Upper motor neuron dysfunction	6571	SLC18A2	ORPHA:352649
HP:0002493	Upper motor neuron dysfunction	60558	GUF1	OMIM:617065
HP:0002493	Upper motor neuron dysfunction	387787	LIPT2	OMIM:617668
HP:0002493	Upper motor neuron dysfunction	4010	LMX1B	ORPHA:495818
HP:0002493	Upper motor neuron dysfunction	79944	L2HGDH	OMIM:236792
HP:0002493	Upper motor neuron dysfunction	79944	L2HGDH	ORPHA:79314
HP:0002493	Upper motor neuron dysfunction	2192	FBLN1	ORPHA:404451
HP:0002493	Upper motor neuron dysfunction	2937	GSS	OMIM:266130
HP:0002493	Upper motor neuron dysfunction	3899	AFF3	OMIM:619297
HP:0002493	Upper motor neuron dysfunction	29960	MRM2	OMIM:618567
HP:0002493	Upper motor neuron dysfunction	10195	ALG3	ORPHA:79321
HP:0002493	Upper motor neuron dysfunction	10195	ALG3	OMIM:601110
HP:0002493	Upper motor neuron dysfunction	29968	PSAT1	ORPHA:284417
HP:0002493	Upper motor neuron dysfunction	221692	PHACTR1	OMIM:618298
HP:0002493	Upper motor neuron dysfunction	523	ATP6V1A	OMIM:618012
HP:0002493	Upper motor neuron dysfunction	3785	KCNQ2	OMIM:613720
HP:0002493	Upper motor neuron dysfunction	54808	DYM	ORPHA:239
HP:0002493	Upper motor neuron dysfunction	4524	MTHFR	ORPHA:395
HP:0002493	Upper motor neuron dysfunction	8367	H4C5	OMIM:619950
HP:0002493	Upper motor neuron dysfunction	340533	NEXMIF	OMIM:300912
HP:0002493	Upper motor neuron dysfunction	1183	CLCN4	OMIM:300114
HP:0002493	Upper motor neuron dysfunction	1183	CLCN4	ORPHA:485350
HP:0002493	Upper motor neuron dysfunction	23345	SYNE1	ORPHA:88644
HP:0002493	Upper motor neuron dysfunction	1355	COX15	OMIM:615119
HP:0002493	Upper motor neuron dysfunction	23314	SATB2	ORPHA:251028
HP:0002493	Upper motor neuron dysfunction	775	CACNA1C	OMIM:620029
HP:0002493	Upper motor neuron dysfunction	51412	ACTL6B	OMIM:618468
HP:0002493	Upper motor neuron dysfunction	4508	MT-ATP6	ORPHA:320360
HP:0002493	Upper motor neuron dysfunction	4758	NEU1	ORPHA:93399
HP:0002493	Upper motor neuron dysfunction	1161	ERCC8	ORPHA:90321
HP:0002493	Upper motor neuron dysfunction	1161	ERCC8	ORPHA:90322
HP:0002493	Upper motor neuron dysfunction	2072	ERCC4	ORPHA:90321
HP:0002493	Upper motor neuron dysfunction	2074	ERCC6	ORPHA:90321
HP:0002493	Upper motor neuron dysfunction	2074	ERCC6	ORPHA:90322
HP:0002493	Upper motor neuron dysfunction	2067	ERCC1	ORPHA:90322
HP:0002493	Upper motor neuron dysfunction	81790	RNF170	OMIM:619686
HP:0002493	Upper motor neuron dysfunction	10908	PNPLA6	ORPHA:139480
HP:0002493	Upper motor neuron dysfunction	6647	SOD1	OMIM:618598
HP:0002493	Upper motor neuron dysfunction	5917	RARS1	ORPHA:438114
HP:0002493	Upper motor neuron dysfunction	5917	RARS1	OMIM:616140
HP:0002493	Upper motor neuron dysfunction	27102	EIF2AK1	OMIM:618878
HP:0002493	Upper motor neuron dysfunction	3897	L1CAM	OMIM:303350
HP:0002493	Upper motor neuron dysfunction	84340	GFM2	ORPHA:565624
HP:0002493	Upper motor neuron dysfunction	7345	UCHL1	OMIM:615491
HP:0002493	Upper motor neuron dysfunction	7345	UCHL1	OMIM:620221
HP:0002493	Upper motor neuron dysfunction	816	CAMK2B	OMIM:617799
HP:0002493	Upper motor neuron dysfunction	51741	WWOX	OMIM:614322
HP:0002493	Upper motor neuron dysfunction	10342	TFG	OMIM:615658
HP:0002493	Upper motor neuron dysfunction	51079	NDUFA13	OMIM:618249
HP:0002493	Upper motor neuron dysfunction	85465	SELENOI	OMIM:618768
HP:0002493	Upper motor neuron dysfunction	4361	MRE11	OMIM:604391
HP:0002493	Upper motor neuron dysfunction	823	CAPN1	OMIM:616907
HP:0002493	Upper motor neuron dysfunction	823	CAPN1	ORPHA:488594
HP:0002493	Upper motor neuron dysfunction	57531	HACE1	ORPHA:464282
HP:0002493	Upper motor neuron dysfunction	57531	HACE1	OMIM:616756
HP:0002493	Upper motor neuron dysfunction	5277	PIGA	OMIM:300868
HP:0002493	Upper motor neuron dysfunction	6304	SATB1	OMIM:619229
HP:0002493	Upper motor neuron dysfunction	27010	TPK1	OMIM:614458
HP:0002493	Upper motor neuron dysfunction	6513	SLC2A1	ORPHA:98811
HP:0002493	Upper motor neuron dysfunction	220296	HEPACAM	OMIM:613925
HP:0002493	Upper motor neuron dysfunction	79152	FA2H	OMIM:612319
HP:0002493	Upper motor neuron dysfunction	79152	FA2H	ORPHA:171629
HP:0002493	Upper motor neuron dysfunction	4953	ODC1	OMIM:619075
HP:0002493	Upper motor neuron dysfunction	91574	MTRFR	OMIM:615035
HP:0002493	Upper motor neuron dysfunction	91574	MTRFR	ORPHA:320375
HP:0002493	Upper motor neuron dysfunction	51501	HIKESHI	OMIM:616881
HP:0002493	Upper motor neuron dysfunction	9354	UBE4A	OMIM:619639
HP:0002493	Upper motor neuron dysfunction	22931	RAB18	OMIM:614222
HP:0002493	Upper motor neuron dysfunction	26047	CNTNAP2	ORPHA:163681
HP:0002493	Upper motor neuron dysfunction	79759	ZNF668	OMIM:620194
HP:0002493	Upper motor neuron dysfunction	79796	ALG9	ORPHA:79328
HP:0002493	Upper motor neuron dysfunction	25814	ATXN10	ORPHA:98761
HP:0002493	Upper motor neuron dysfunction	57459	GATAD2B	ORPHA:363686
HP:0002493	Upper motor neuron dysfunction	10280	SIGMAR1	ORPHA:300605
HP:0002493	Upper motor neuron dysfunction	10280	SIGMAR1	OMIM:614373
HP:0002493	Upper motor neuron dysfunction	10558	SPTLC1	ORPHA:300605
HP:0002493	Upper motor neuron dysfunction	1615	DARS1	OMIM:615281
HP:0002493	Upper motor neuron dysfunction	9409	PEX16	OMIM:614877
HP:0002493	Upper motor neuron dysfunction	64135	IFIH1	OMIM:615846
HP:0002493	Upper motor neuron dysfunction	57038	RARS2	OMIM:611523
HP:0002493	Upper motor neuron dysfunction	9338	TCEAL1	OMIM:301094
HP:0002493	Upper motor neuron dysfunction	23299	BICD2	OMIM:615290
HP:0002493	Upper motor neuron dysfunction	6904	TBCD	OMIM:617193
HP:0002493	Upper motor neuron dysfunction	4141	MARS1	ORPHA:401835
HP:0002493	Upper motor neuron dysfunction	339855	KY	ORPHA:496689
HP:0002493	Upper motor neuron dysfunction	10273	STUB1	ORPHA:412057
HP:0002493	Upper motor neuron dysfunction	131118	DNAJC19	ORPHA:66634
HP:0002493	Upper motor neuron dysfunction	5660	PSAP	ORPHA:206436
HP:0002493	Upper motor neuron dysfunction	200403	VWA3B	OMIM:616948
HP:0002493	Upper motor neuron dysfunction	85021	REPS1	OMIM:617916
HP:0002493	Upper motor neuron dysfunction	6509	SLC1A4	ORPHA:447997
HP:0002493	Upper motor neuron dysfunction	27072	VPS41	OMIM:619389
HP:0002493	Upper motor neuron dysfunction	84274	COQ5	OMIM:619028
HP:0002493	Upper motor neuron dysfunction	25793	FBXO7	OMIM:260300
HP:0002493	Upper motor neuron dysfunction	51763	INPP5K	OMIM:617404
HP:0002493	Upper motor neuron dysfunction	51062	ATL1	ORPHA:100984
HP:0002493	Upper motor neuron dysfunction	51062	ATL1	OMIM:182600
HP:0002493	Upper motor neuron dysfunction	3736	KCNA1	OMIM:160120
HP:0002493	Upper motor neuron dysfunction	3736	KCNA1	ORPHA:972
HP:0002493	Upper motor neuron dysfunction	9897	WASHC5	ORPHA:100989
HP:0002493	Upper motor neuron dysfunction	9897	WASHC5	OMIM:603563
HP:0002493	Upper motor neuron dysfunction	324	APC	ORPHA:261584
HP:0002493	Upper motor neuron dysfunction	79876	UBA5	OMIM:617133
HP:0002493	Upper motor neuron dysfunction	5354	PLP1	ORPHA:99015
HP:0002493	Upper motor neuron dysfunction	5354	PLP1	OMIM:312920
HP:0002493	Upper motor neuron dysfunction	123606	NIPA1	OMIM:600363
HP:0002493	Upper motor neuron dysfunction	57156	TMEM63C	OMIM:619966
HP:0002493	Upper motor neuron dysfunction	547	KIF1A	OMIM:610357
HP:0002493	Upper motor neuron dysfunction	547	KIF1A	ORPHA:101010
HP:0002493	Upper motor neuron dysfunction	9197	SLC33A1	OMIM:612539
HP:0002493	Upper motor neuron dysfunction	9197	SLC33A1	ORPHA:171863
HP:0002493	Upper motor neuron dysfunction	10166	SLC25A15	ORPHA:415
HP:0002493	Upper motor neuron dysfunction	10166	SLC25A15	OMIM:238970
HP:0002493	Upper motor neuron dysfunction	51204	TACO1	OMIM:619052
HP:0002493	Upper motor neuron dysfunction	65055	REEP1	ORPHA:101011
HP:0002493	Upper motor neuron dysfunction	65055	REEP1	OMIM:610250
HP:0002493	Upper motor neuron dysfunction	4204	MECP2	OMIM:300055
HP:0002493	Upper motor neuron dysfunction	118813	ZFYVE27	OMIM:610244
HP:0002493	Upper motor neuron dysfunction	25778	DSTYK	ORPHA:101003
HP:0002493	Upper motor neuron dysfunction	9420	CYP7B1	OMIM:270800
HP:0002493	Upper motor neuron dysfunction	57599	WDR48	ORPHA:401800
HP:0002493	Upper motor neuron dysfunction	55703	POLR3B	OMIM:619742
HP:0002493	Upper motor neuron dysfunction	80821	DDHD1	ORPHA:101008
HP:0002493	Upper motor neuron dysfunction	9907	AP5Z1	OMIM:613647
HP:0002493	Upper motor neuron dysfunction	9907	AP5Z1	ORPHA:306511
HP:0002493	Upper motor neuron dysfunction	9895	TECPR2	OMIM:615031
HP:0002493	Upper motor neuron dysfunction	340075	ARSI	ORPHA:401815
HP:0002493	Upper motor neuron dysfunction	57498	KIDINS220	OMIM:617296
HP:0002493	Upper motor neuron dysfunction	84879	MFSD2A	OMIM:616486
HP:0002493	Upper motor neuron dysfunction	2517	FUCA1	OMIM:230000
HP:0002493	Upper motor neuron dysfunction	80232	WDR26	OMIM:617616
HP:0002493	Upper motor neuron dysfunction	10613	ERLIN1	ORPHA:401785
HP:0002493	Upper motor neuron dysfunction	10613	ERLIN1	OMIM:615681
HP:0002493	Upper motor neuron dysfunction	23503	ZFYVE26	OMIM:270700
HP:0002493	Upper motor neuron dysfunction	55210	ATAD3A	ORPHA:496790
HP:0002493	Upper motor neuron dysfunction	80055	PGAP1	ORPHA:401820
HP:0002493	Upper motor neuron dysfunction	22978	NT5C2	ORPHA:320396
HP:0002493	Upper motor neuron dysfunction	22978	NT5C2	OMIM:613162
HP:0002493	Upper motor neuron dysfunction	6472	SHMT2	OMIM:619121
HP:0002493	Upper motor neuron dysfunction	6253	RTN2	OMIM:604805
HP:0002493	Upper motor neuron dysfunction	6253	RTN2	ORPHA:100993
HP:0002493	Upper motor neuron dysfunction	79971	WLS	OMIM:619648
HP:0002493	Upper motor neuron dysfunction	26278	SACS	OMIM:270550
HP:0002493	Upper motor neuron dysfunction	9101	USP8	ORPHA:401795
HP:0002493	Upper motor neuron dysfunction	8913	CACNA1G	ORPHA:458803
HP:0002493	Upper motor neuron dysfunction	8913	CACNA1G	OMIM:616795
HP:0002493	Upper motor neuron dysfunction	3739	KCNA4	OMIM:618284
HP:0002493	Upper motor neuron dysfunction	3329	HSPD1	OMIM:605280
HP:0002493	Upper motor neuron dysfunction	3329	HSPD1	ORPHA:100994
HP:0002493	Upper motor neuron dysfunction	383	ARG1	OMIM:207800
HP:0002493	Upper motor neuron dysfunction	23259	DDHD2	ORPHA:320380
HP:0002493	Upper motor neuron dysfunction	6683	SPAST	OMIM:182601
HP:0002493	Upper motor neuron dysfunction	26580	BSCL2	OMIM:270685
HP:0002493	Upper motor neuron dysfunction	26580	BSCL2	ORPHA:100998
HP:0002493	Upper motor neuron dysfunction	51663	ZFR	ORPHA:401840
HP:0002493	Upper motor neuron dysfunction	51271	UBAP1	ORPHA:100993
HP:0002493	Upper motor neuron dysfunction	126129	CPT1C	ORPHA:444099
HP:0002493	Upper motor neuron dysfunction	3839	KPNA3	ORPHA:171612
HP:0002493	Upper motor neuron dysfunction	51308	REEP2	ORPHA:401849
HP:0002493	Upper motor neuron dysfunction	51308	REEP2	OMIM:615625
HP:0002493	Upper motor neuron dysfunction	113612	CYP2U1	ORPHA:320411
HP:0002493	Upper motor neuron dysfunction	22948	CCT5	OMIM:256840
HP:0002493	Upper motor neuron dysfunction	2583	B4GALNT1	OMIM:609195
HP:0002493	Upper motor neuron dysfunction	57165	GJC2	OMIM:613206
HP:0002493	Upper motor neuron dysfunction	3798	KIF5A	OMIM:604187
HP:0002493	Upper motor neuron dysfunction	4001	LMNB1	ORPHA:99027
HP:0002493	Upper motor neuron dysfunction	2137	EXTL3	ORPHA:508533
HP:0002493	Upper motor neuron dysfunction	4702	NDUFA8	OMIM:619272
HP:0002493	Upper motor neuron dysfunction	443	ASPA	OMIM:271900
HP:0002493	Upper motor neuron dysfunction	3763	KCNJ6	ORPHA:435628
HP:0002493	Upper motor neuron dysfunction	3763	KCNJ6	OMIM:614098
HP:0002493	Upper motor neuron dysfunction	1727	CYB5R3	OMIM:250800
HP:0002493	Upper motor neuron dysfunction	3747	KCNC2	OMIM:619913
HP:0002493	Upper motor neuron dysfunction	4337	MOCS1	OMIM:252150
HP:0002493	Upper motor neuron dysfunction	54820	NDE1	ORPHA:2177
HP:0002493	Upper motor neuron dysfunction	81570	CLPB	ORPHA:445038
HP:0002493	Upper motor neuron dysfunction	81570	CLPB	OMIM:616271
HP:0002493	Upper motor neuron dysfunction	3251	HPRT1	OMIM:300322
HP:0002493	Upper motor neuron dysfunction	55610	VPS50	OMIM:619685
HP:0002493	Upper motor neuron dysfunction	440138	ALG11	ORPHA:280071
HP:0002493	Upper motor neuron dysfunction	440138	ALG11	OMIM:613661
HP:0002493	Upper motor neuron dysfunction	51506	UFC1	OMIM:618076
HP:0002493	Upper motor neuron dysfunction	7358	UGDH	OMIM:618792
HP:0002493	Upper motor neuron dysfunction	1841	DTYMK	OMIM:619847
HP:0002493	Upper motor neuron dysfunction	10157	AASS	ORPHA:2203
HP:0002493	Upper motor neuron dysfunction	7284	TUFM	OMIM:610678
HP:0002493	Upper motor neuron dysfunction	1759	DNM1	OMIM:620352
HP:0002493	Upper motor neuron dysfunction	7143	TNR	OMIM:619653
HP:0002493	Upper motor neuron dysfunction	5455	POU3F3	OMIM:618604
HP:0002493	Upper motor neuron dysfunction	2902	GRIN1	OMIM:619814
HP:0002493	Upper motor neuron dysfunction	55275	VPS53	OMIM:615851
HP:0002493	Upper motor neuron dysfunction	80746	TSEN2	OMIM:612389
HP:0002493	Upper motor neuron dysfunction	283989	TSEN54	OMIM:277470
HP:0002493	Upper motor neuron dysfunction	114034	TOE1	OMIM:614969
HP:0002493	Upper motor neuron dysfunction	64087	MCCC2	OMIM:210210
HP:0002493	Upper motor neuron dysfunction	2639	GCDH	OMIM:231670
HP:0002493	Upper motor neuron dysfunction	5805	PTS	ORPHA:13
HP:0002493	Upper motor neuron dysfunction	2898	GRIK2	OMIM:619580
HP:0002493	Upper motor neuron dysfunction	27247	NFU1	OMIM:605711
HP:0002493	Upper motor neuron dysfunction	80025	PANK2	ORPHA:216866
HP:0002493	Upper motor neuron dysfunction	132158	GLYCTK	OMIM:220120
HP:0002493	Upper motor neuron dysfunction	79587	CARS2	OMIM:616672
HP:0002493	Upper motor neuron dysfunction	4338	MOCS2	OMIM:252160
HP:0002493	Upper motor neuron dysfunction	56922	MCCC1	OMIM:210200
HP:0002493	Upper motor neuron dysfunction	9244	CRLF1	OMIM:272430
HP:0002493	Upper motor neuron dysfunction	26040	SETBP1	OMIM:269150
HP:0002493	Upper motor neuron dysfunction	6197	RPS6KA3	ORPHA:192
HP:0002493	Upper motor neuron dysfunction	129685	TAF8	OMIM:619972
HP:0002493	Upper motor neuron dysfunction	84504	NKX6-2	ORPHA:527497
HP:0002493	Upper motor neuron dysfunction	10943	MSL3	OMIM:301032
HP:0002493	Upper motor neuron dysfunction	57688	ZSWIM6	OMIM:617865
HP:0002493	Upper motor neuron dysfunction	3094	HINT1	ORPHA:324442
HP:0002493	Upper motor neuron dysfunction	4750	NEK1	OMIM:617892
HP:0002493	Upper motor neuron dysfunction	51728	POLR3K	OMIM:619310
HP:0002493	Upper motor neuron dysfunction	10564	ARFGEF2	OMIM:608097
HP:0002493	Upper motor neuron dysfunction	4038	LRP4	OMIM:614305
HP:0002493	Upper motor neuron dysfunction	7360	UGP2	OMIM:618744
HP:0002493	Upper motor neuron dysfunction	2571	GAD1	OMIM:619124
HP:0002493	Upper motor neuron dysfunction	128240	NAXE	OMIM:617186
HP:0002493	Upper motor neuron dysfunction	23287	AGTPBP1	OMIM:618276
HP:0002493	Upper motor neuron dysfunction	1757	SARDH	ORPHA:3129
HP:0002493	Upper motor neuron dysfunction	55679	LIMS2	OMIM:616827
HP:0002493	Upper motor neuron dysfunction	1468	SLC25A10	OMIM:618972
HP:0002493	Upper motor neuron dysfunction	5498	PPOX	ORPHA:79473
HP:0002493	Upper motor neuron dysfunction	760	CA2	ORPHA:2785
HP:0002493	Upper motor neuron dysfunction	4854	NOTCH3	ORPHA:136
HP:0002493	Upper motor neuron dysfunction	51816	ADA2	OMIM:182410
HP:0002493	Upper motor neuron dysfunction	51816	ADA2	OMIM:615688
HP:0002493	Upper motor neuron dysfunction	158	ADSL	OMIM:103050
HP:0002493	Upper motor neuron dysfunction	727676	SNORD118	OMIM:614561
HP:0002493	Upper motor neuron dysfunction	1284	COL4A2	OMIM:614483
HP:0002493	Upper motor neuron dysfunction	6331	SCN5A	ORPHA:1344
HP:0002493	Upper motor neuron dysfunction	4878	NPPA	ORPHA:1344
HP:0002493	Upper motor neuron dysfunction	4519	MT-CYB	ORPHA:137675
HP:0002493	Upper motor neuron dysfunction	478	ATP1A3	OMIM:614820
HP:0002493	Upper motor neuron dysfunction	2260	FGFR1	ORPHA:2396
HP:0002493	Upper motor neuron dysfunction	3845	KRAS	ORPHA:2396
HP:0002493	Upper motor neuron dysfunction	1282	COL4A1	OMIM:175780
HP:0002493	Upper motor neuron dysfunction	6775	STAT4	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	6696	SPP1	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	3654	IRAK1	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	1493	CTLA4	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	26191	PTPN22	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	3115	HLA-DPB1	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	5657	PRTN3	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	3113	HLA-DPA1	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	2776	GNAQ	ORPHA:624
HP:0002493	Upper motor neuron dysfunction	773	CACNA1A	ORPHA:569
HP:0002493	Upper motor neuron dysfunction	773	CACNA1A	ORPHA:97
HP:0002493	Upper motor neuron dysfunction	773	CACNA1A	OMIM:141500
HP:0002493	Upper motor neuron dysfunction	112476	PRRT2	ORPHA:569
HP:0002493	Upper motor neuron dysfunction	6323	SCN1A	ORPHA:569
HP:0002493	Upper motor neuron dysfunction	6323	SCN1A	OMIM:609634
HP:0002493	Upper motor neuron dysfunction	477	ATP1A2	ORPHA:569
HP:0002493	Upper motor neuron dysfunction	477	ATP1A2	OMIM:602481
HP:0002493	Upper motor neuron dysfunction	6821	SUOX	OMIM:272300
HP:0002493	Upper motor neuron dysfunction	6507	SLC1A3	ORPHA:209967
HP:0002493	Upper motor neuron dysfunction	6507	SLC1A3	OMIM:612656
HP:0002493	Upper motor neuron dysfunction	5551	PRF1	OMIM:603553
HP:0002493	Upper motor neuron dysfunction	81704	DOCK8	OMIM:243700
HP:0002493	Upper motor neuron dysfunction	2581	GALC	ORPHA:206443
HP:0002493	Upper motor neuron dysfunction	2581	GALC	ORPHA:206448
HP:0002493	Upper motor neuron dysfunction	170302	ARX	ORPHA:3175
HP:0002493	Upper motor neuron dysfunction	80169	CTC1	OMIM:612199
HP:0002493	Upper motor neuron dysfunction	50485	SMARCAL1	ORPHA:1830
HP:0002493	Upper motor neuron dysfunction	57465	TBC1D24	ORPHA:352596
HP:0002493	Upper motor neuron dysfunction	2782	GNB1	OMIM:616973
HP:0002493	Upper motor neuron dysfunction	5053	PAH	ORPHA:79254
HP:0002493	Upper motor neuron dysfunction	84265	POLR3GL	OMIM:619234
HP:0002493	Upper motor neuron dysfunction	55532	SLC30A10	ORPHA:309854
HP:0002493	Upper motor neuron dysfunction	55532	SLC30A10	OMIM:613280
HP:0002493	Upper motor neuron dysfunction	9255	AIMP1	OMIM:260600
HP:0002493	Upper motor neuron dysfunction	3425	IDUA	ORPHA:93474
HP:0002493	Upper motor neuron dysfunction	3425	IDUA	ORPHA:93473
HP:0002493	Upper motor neuron dysfunction	54880	BCOR	OMIM:300166
HP:0002493	Upper motor neuron dysfunction	2670	GFAP	ORPHA:363722
HP:0002493	Upper motor neuron dysfunction	440193	CCDC88C	OMIM:616053
HP:0002493	Upper motor neuron dysfunction	440193	CCDC88C	ORPHA:423275
HP:0002493	Upper motor neuron dysfunction	80207	OPA3	ORPHA:67047
HP:0002493	Upper motor neuron dysfunction	125988	MICOS13	ORPHA:67047
HP:0002493	Upper motor neuron dysfunction	80347	COASY	OMIM:615643
HP:0002493	Upper motor neuron dysfunction	80347	COASY	ORPHA:397725
HP:0002493	Upper motor neuron dysfunction	1910	EDNRB	OMIM:277580
HP:0002493	Upper motor neuron dysfunction	11152	WDR45	ORPHA:329284
HP:0002493	Upper motor neuron dysfunction	11152	WDR45	OMIM:300894
HP:0002493	Upper motor neuron dysfunction	93587	TRMT10A	ORPHA:391408
HP:0002493	Upper motor neuron dysfunction	84919	PPP1R15B	ORPHA:391408
HP:0002493	Upper motor neuron dysfunction	51324	SPG21	OMIM:248900
HP:0002493	Upper motor neuron dysfunction	55149	MTPAP	OMIM:613672
HP:0002493	Upper motor neuron dysfunction	55149	MTPAP	ORPHA:254343
HP:0002493	Upper motor neuron dysfunction	6390	SDHB	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	6392	SDHD	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	644096	SDHAF1	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	2806	GOT2	OMIM:618721
HP:0002493	Upper motor neuron dysfunction	686	BTD	ORPHA:79241
HP:0002493	Upper motor neuron dysfunction	23389	MED13L	ORPHA:369891
HP:0002493	Upper motor neuron dysfunction	224	ALDH3A2	OMIM:270200
HP:0002493	Upper motor neuron dysfunction	4860	PNP	ORPHA:760
HP:0002493	Upper motor neuron dysfunction	58497	PRUNE1	ORPHA:544469
HP:0002493	Upper motor neuron dysfunction	10535	RNASEH2A	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	84153	RNASEH2C	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	25939	SAMHD1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	79621	RNASEH2B	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	103	ADAR	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	100147744	RNU7-1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	134353	LSM11	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	2629	GBA1	OMIM:231000
HP:0002493	Upper motor neuron dysfunction	427	ASAH1	ORPHA:333
HP:0002493	Upper motor neuron dysfunction	1593	CYP27A1	ORPHA:909
HP:0002493	Upper motor neuron dysfunction	1213	CLTC	OMIM:617854
HP:0002493	Upper motor neuron dysfunction	54902	TTC19	OMIM:615157
HP:0002493	Upper motor neuron dysfunction	9289	ADGRG1	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	5297	PI4KA	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	27286	SRPX2	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	5428	POLG	ORPHA:726
HP:0002493	Upper motor neuron dysfunction	3431	SP110	ORPHA:79124
HP:0002493	Upper motor neuron dysfunction	80704	SLC19A3	OMIM:607483
HP:0002493	Upper motor neuron dysfunction	203228	C9orf72	OMIM:105550
HP:0002493	Upper motor neuron dysfunction	23400	ATP13A2	OMIM:606693
HP:0002493	Upper motor neuron dysfunction	5631	PRPS1	ORPHA:99014
HP:0002493	Upper motor neuron dysfunction	4763	NF1	OMIM:162210
HP:0002493	Upper motor neuron dysfunction	215	ABCD1	OMIM:300100
HP:0002493	Upper motor neuron dysfunction	80208	SPG11	ORPHA:2822
HP:0002493	Upper motor neuron dysfunction	80199	FUZ	ORPHA:1136
HP:0002493	Upper motor neuron dysfunction	8792	TNFRSF11A	OMIM:602080
HP:0002493	Upper motor neuron dysfunction	498	ATP5F1A	OMIM:620358
HP:0002493	Upper motor neuron dysfunction	2697	GJA1	OMIM:164200
HP:0002493	Upper motor neuron dysfunction	2593	GAMT	OMIM:612736
HP:0002493	Upper motor neuron dysfunction	22845	DOLK	OMIM:610768
HP:0002493	Upper motor neuron dysfunction	100134444	KCNJ18	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	2556	GABRA3	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	779	CACNA1S	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	701	BUB1B	OMIM:257300
HP:0002493	Upper motor neuron dysfunction	56246	MRAP	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	6770	STAR	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	4158	MC2R	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	23530	NNT	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	10587	TXNRD2	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	374354	NHLRC2	OMIM:618278
HP:0002493	Upper motor neuron dysfunction	51693	TRAPPC2L	OMIM:618331
HP:0002493	Upper motor neuron dysfunction	1806	DPYD	OMIM:274270
HP:0002493	Upper motor neuron dysfunction	25782	RAB3GAP2	ORPHA:401830
HP:0002493	Upper motor neuron dysfunction	5621	PRNP	ORPHA:282166
HP:0002493	Upper motor neuron dysfunction	10717	AP4B1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	9179	AP4M1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	11154	AP4S1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	23431	AP4E1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	87178	PNPT1	ORPHA:101111
HP:0002493	Upper motor neuron dysfunction	4099	MAG	OMIM:616680
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	OMIM:205100
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	OMIM:606353
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	ORPHA:247604
HP:0002493	Upper motor neuron dysfunction	4137	MAPT	ORPHA:240094
HP:0002493	Upper motor neuron dysfunction	57704	GBA2	ORPHA:352641
HP:0002493	Upper motor neuron dysfunction	57704	GBA2	ORPHA:320391
HP:0002493	Upper motor neuron dysfunction	55775	TDP1	ORPHA:94124
HP:0002493	Upper motor neuron dysfunction	5190	PEX6	ORPHA:95433
HP:0002493	Upper motor neuron dysfunction	92935	MARS2	ORPHA:314603
HP:0002493	Upper motor neuron dysfunction	5832	ALDH18A1	ORPHA:447757
HP:0002493	Upper motor neuron dysfunction	5832	ALDH18A1	ORPHA:447753
HP:0002493	Upper motor neuron dysfunction	11160	ERLIN2	ORPHA:247604
HP:0002493	Upper motor neuron dysfunction	10939	AFG3L2	ORPHA:313772
HP:0002493	Upper motor neuron dysfunction	6843	VAMP1	ORPHA:251282
HP:0002493	Upper motor neuron dysfunction	84188	FAR1	ORPHA:447753
HP:0002493	Upper motor neuron dysfunction	11128	POLR3A	ORPHA:447896
HP:0002493	Upper motor neuron dysfunction	724066	ATXN8	ORPHA:98760
HP:0002493	Upper motor neuron dysfunction	6315	ATXN8OS	ORPHA:98760
HP:0002493	Upper motor neuron dysfunction	23111	SPART	ORPHA:101000
HP:0002493	Upper motor neuron dysfunction	51218	GLRX5	ORPHA:401866
HP:0002493	Upper motor neuron dysfunction	2705	GJB1	ORPHA:1175
HP:0002493	Upper motor neuron dysfunction	492	ATP2B3	ORPHA:314978
HP:0002493	Upper motor neuron dysfunction	410	ARSA	ORPHA:309271
HP:0002493	Upper motor neuron dysfunction	54	ACP5	OMIM:607944
HP:0002493	Upper motor neuron dysfunction	2760	GM2A	ORPHA:309246
HP:0002493	Upper motor neuron dysfunction	6711	SPTBN1	OMIM:619475
HP:0002493	Upper motor neuron dysfunction	133686	NADK2	ORPHA:431361
HP:0002493	Upper motor neuron dysfunction	9373	PLAA	ORPHA:521426
HP:0002493	Upper motor neuron dysfunction	5048	PAFAH1B1	ORPHA:95232
HP:0002493	Upper motor neuron dysfunction	6329	SCN4A	ORPHA:99734
HP:0002493	Upper motor neuron dysfunction	1513	CTSK	ORPHA:763
HP:0002493	Upper motor neuron dysfunction	6712	SPTBN2	OMIM:600224
HP:0002493	Upper motor neuron dysfunction	54828	BCAS3	OMIM:619641
HP:0002493	Upper motor neuron dysfunction	3074	HEXB	OMIM:268800
HP:0002493	Upper motor neuron dysfunction	55131	RBM28	OMIM:612079
HP:0002493	Upper motor neuron dysfunction	2896	GRN	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	54664	TMEM106B	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	9896	FIG4	OMIM:612577
HP:0002493	Upper motor neuron dysfunction	3178	HNRNPA1	ORPHA:52430
HP:0002493	Upper motor neuron dysfunction	3181	HNRNPA2B1	ORPHA:52430
HP:0002493	Upper motor neuron dysfunction	23141	ANKLE2	OMIM:616681
HP:0002493	Upper motor neuron dysfunction	776	CACNA1D	OMIM:615474
HP:0002493	Upper motor neuron dysfunction	2720	GLB1	OMIM:230600
HP:0002493	Upper motor neuron dysfunction	84942	WDR73	OMIM:251300
HP:0002493	Upper motor neuron dysfunction	6328	SCN3A	OMIM:617938
HP:0002493	Upper motor neuron dysfunction	8496	PPFIBP1	OMIM:620024
HP:0002493	Upper motor neuron dysfunction	56945	MRPS22	OMIM:611719
HP:0002493	Upper motor neuron dysfunction	1193	CLIC2	OMIM:300886
HP:0002493	Upper motor neuron dysfunction	1193	CLIC2	ORPHA:324410
HP:0002493	Upper motor neuron dysfunction	6567	SLC16A2	OMIM:300523
HP:0002493	Upper motor neuron dysfunction	6567	SLC16A2	ORPHA:59
HP:0002493	Upper motor neuron dysfunction	1436	CSF1R	OMIM:618476
HP:0002493	Upper motor neuron dysfunction	8867	SYNJ1	OMIM:617389
HP:0002493	Upper motor neuron dysfunction	29078	NDUFAF4	OMIM:618237
HP:0002493	Upper motor neuron dysfunction	7846	TUBA1A	OMIM:611603
HP:0002493	Upper motor neuron dysfunction	79709	COLGALT1	OMIM:618360
HP:0002493	Upper motor neuron dysfunction	535	ATP6V0A1	OMIM:619971
HP:0002493	Upper motor neuron dysfunction	22796	COG2	OMIM:617395
HP:0002493	Upper motor neuron dysfunction	22796	COG2	ORPHA:435934
HP:0002493	Upper motor neuron dysfunction	7283	TUBG1	OMIM:615412
HP:0002493	Upper motor neuron dysfunction	79029	AFG2B	OMIM:619616
HP:0002493	Upper motor neuron dysfunction	10352	WARS2	OMIM:617710
HP:0002493	Upper motor neuron dysfunction	10352	WARS2	ORPHA:572798
HP:0002493	Upper motor neuron dysfunction	6709	SPTAN1	OMIM:613477
HP:0002493	Upper motor neuron dysfunction	1778	DYNC1H1	OMIM:614563
HP:0002493	Upper motor neuron dysfunction	3796	KIF2A	OMIM:615411
HP:0002493	Upper motor neuron dysfunction	170825	GSX2	OMIM:618646
HP:0002493	Upper motor neuron dysfunction	8560	DEGS1	OMIM:618404
HP:0002493	Upper motor neuron dysfunction	259232	NALCN	OMIM:615419
HP:0002493	Upper motor neuron dysfunction	259232	NALCN	ORPHA:371364
HP:0002493	Upper motor neuron dysfunction	549	AUH	OMIM:250950
HP:0002493	Upper motor neuron dysfunction	23258	DENND5A	OMIM:617281
HP:0002493	Upper motor neuron dysfunction	5903	RANBP2	ORPHA:88619
HP:0002493	Upper motor neuron dysfunction	5903	RANBP2	OMIM:608033
HP:0002493	Upper motor neuron dysfunction	22872	SEC31A	OMIM:618651
HP:0002493	Upper motor neuron dysfunction	128637	TBC1D20	OMIM:615663
HP:0002493	Upper motor neuron dysfunction	6785	ELOVL4	OMIM:614457
HP:0002493	Upper motor neuron dysfunction	6905	TBCE	OMIM:617207
HP:0002493	Upper motor neuron dysfunction	26227	PHGDH	ORPHA:79351
HP:0002493	Upper motor neuron dysfunction	26227	PHGDH	OMIM:601815
HP:0002493	Upper motor neuron dysfunction	59336	PRDM13	OMIM:619909
HP:0002493	Upper motor neuron dysfunction	1267	CNP	OMIM:619071
HP:0002493	Upper motor neuron dysfunction	11019	LIAS	OMIM:614462
HP:0002493	Upper motor neuron dysfunction	56978	PRDM8	OMIM:616640
HP:0002493	Upper motor neuron dysfunction	6812	STXBP1	OMIM:612164
HP:0002493	Upper motor neuron dysfunction	51633	OTUD6B	OMIM:617452
HP:0002493	Upper motor neuron dysfunction	51633	OTUD6B	ORPHA:505237
HP:0002493	Upper motor neuron dysfunction	51091	SEPSECS	OMIM:613811
HP:0002493	Upper motor neuron dysfunction	56270	WDR45B	OMIM:617977
HP:0002493	Upper motor neuron dysfunction	285175	UNC80	ORPHA:371364
HP:0002493	Upper motor neuron dysfunction	1528	CYB5A	ORPHA:621
HP:0002493	Upper motor neuron dysfunction	51611	DPH5	OMIM:620070
HP:0002493	Upper motor neuron dysfunction	5700	PSMC1	OMIM:620071
HP:0002493	Upper motor neuron dysfunction	90522	YIF1B	OMIM:619125
HP:0002493	Upper motor neuron dysfunction	3800	KIF5C	OMIM:615282
HP:0002493	Upper motor neuron dysfunction	2893	GRIA4	OMIM:617864
HP:0002493	Upper motor neuron dysfunction	10297	APC2	OMIM:618677
HP:0002493	Upper motor neuron dysfunction	55164	SHQ1	OMIM:619922
HP:0002493	Upper motor neuron dysfunction	9562	MINPP1	OMIM:619527
HP:0002493	Upper motor neuron dysfunction	55739	NAXD	OMIM:618321
HP:0002493	Upper motor neuron dysfunction	440	ASNS	OMIM:615574
HP:0002493	Upper motor neuron dysfunction	777	CACNA1E	OMIM:618285
HP:0002493	Upper motor neuron dysfunction	64919	BCL11B	OMIM:617237
HP:0002493	Upper motor neuron dysfunction	51294	PCDH12	OMIM:251280
HP:0002493	Upper motor neuron dysfunction	23189	KANK1	OMIM:612900
HP:0002493	Upper motor neuron dysfunction	2055	CLN8	ORPHA:1947
HP:0002493	Upper motor neuron dysfunction	57192	MCOLN1	OMIM:252650
HP:0002493	Upper motor neuron dysfunction	28962	OSTM1	OMIM:259720
HP:0002493	Upper motor neuron dysfunction	3735	KARS1	OMIM:619147
HP:0002493	Upper motor neuron dysfunction	51645	PPIL1	OMIM:619301
HP:0002493	Upper motor neuron dysfunction	51362	CDC40	OMIM:619302
HP:0002493	Upper motor neuron dysfunction	51075	TMX2	OMIM:618730
HP:0002493	Upper motor neuron dysfunction	1496	CTNNA2	OMIM:618174
HP:0002493	Upper motor neuron dysfunction	6326	SCN2A	OMIM:613721
HP:0002493	Upper motor neuron dysfunction	55770	EXOC2	OMIM:619306
HP:0002493	Upper motor neuron dysfunction	10695	CNPY3	OMIM:617929
HP:0002493	Upper motor neuron dysfunction	10749	KIF1C	ORPHA:397946
HP:0002493	Upper motor neuron dysfunction	10749	KIF1C	OMIM:611302
HP:0002493	Upper motor neuron dysfunction	3064	HTT	ORPHA:399
HP:0002493	Upper motor neuron dysfunction	6515	SLC2A3	ORPHA:399
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	OMIM:109150
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276238
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276244
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276241
HP:0002493	Upper motor neuron dysfunction	9853	RUSC2	OMIM:617773
HP:0002493	Upper motor neuron dysfunction	23446	SLC44A1	OMIM:618868
HP:0002493	Upper motor neuron dysfunction	6873	TAF2	OMIM:615599
HP:0002493	Upper motor neuron dysfunction	6873	TAF2	ORPHA:397951
HP:0002493	Upper motor neuron dysfunction	2895	GRID2	OMIM:616204
HP:0002493	Upper motor neuron dysfunction	22880	MORC2	OMIM:616688
HP:0002493	Upper motor neuron dysfunction	22880	MORC2	OMIM:619090
HP:0002493	Upper motor neuron dysfunction	22880	MORC2	ORPHA:466768
HP:0002493	Upper motor neuron dysfunction	1786	DNMT1	ORPHA:314404
HP:0002493	Upper motor neuron dysfunction	8722	CTSF	OMIM:615362
HP:0002493	Upper motor neuron dysfunction	10528	NOP56	OMIM:614153
HP:0002493	Upper motor neuron dysfunction	10528	NOP56	ORPHA:276198
HP:0002493	Upper motor neuron dysfunction	57231	SNX14	ORPHA:397709
HP:0002493	Upper motor neuron dysfunction	57231	SNX14	OMIM:616354
HP:0002493	Upper motor neuron dysfunction	219285	SAMD9L	OMIM:159550
HP:0002493	Upper motor neuron dysfunction	219285	SAMD9L	OMIM:619806
HP:0002493	Upper motor neuron dysfunction	348	APOE	OMIM:607822
HP:0002493	Upper motor neuron dysfunction	5663	PSEN1	OMIM:607822
HP:0002493	Upper motor neuron dysfunction	64834	ELOVL1	OMIM:618527
HP:0002493	Upper motor neuron dysfunction	311	ANXA11	OMIM:619733
HP:0002493	Upper motor neuron dysfunction	7920	ABHD16A	OMIM:619735
HP:0002493	Upper motor neuron dysfunction	343641	TGM6	ORPHA:276193
HP:0002493	Upper motor neuron dysfunction	343641	TGM6	OMIM:613908
HP:0002493	Upper motor neuron dysfunction	857	CAV1	OMIM:606721
HP:0002493	Upper motor neuron dysfunction	83636	C19orf12	OMIM:614298
HP:0002493	Upper motor neuron dysfunction	83636	C19orf12	OMIM:615043
HP:0002493	Upper motor neuron dysfunction	5833	PCYT2	OMIM:618770
HP:0002493	Upper motor neuron dysfunction	246243	RNASEH1	OMIM:616479
HP:0002493	Upper motor neuron dysfunction	51604	PIGT	OMIM:615398
HP:0002493	Upper motor neuron dysfunction	4191	MDH2	OMIM:617339
HP:0002493	Upper motor neuron dysfunction	23474	ETHE1	OMIM:602473
HP:0002493	Upper motor neuron dysfunction	9474	ATG5	OMIM:617584
HP:0002493	Upper motor neuron dysfunction	6506	SLC1A2	OMIM:617105
HP:0002493	Upper motor neuron dysfunction	25973	PARS2	OMIM:618437
HP:0002493	Upper motor neuron dysfunction	11261	CHP1	OMIM:618438
HP:0002493	Upper motor neuron dysfunction	56652	TWNK	OMIM:271245
HP:0002493	Upper motor neuron dysfunction	56652	TWNK	OMIM:607459
HP:0002493	Upper motor neuron dysfunction	5981	RFC1	ORPHA:504476
HP:0002493	Upper motor neuron dysfunction	2395	FXN	OMIM:229300
HP:0002493	Upper motor neuron dysfunction	2395	FXN	ORPHA:95
HP:0002493	Upper motor neuron dysfunction	9725	TMEM63A	OMIM:618688
HP:0002493	Upper motor neuron dysfunction	2512	FTL	ORPHA:157846
HP:0002493	Upper motor neuron dysfunction	2512	FTL	OMIM:606159
HP:0002493	Upper motor neuron dysfunction	54344	DPM3	ORPHA:263494
HP:0002493	Upper motor neuron dysfunction	3658	IREB2	OMIM:618451
HP:0002493	Upper motor neuron dysfunction	55280	CWF19L1	ORPHA:453521
HP:0002493	Upper motor neuron dysfunction	23064	SETX	OMIM:602433
HP:0002493	Upper motor neuron dysfunction	23064	SETX	ORPHA:64753
HP:0002493	Upper motor neuron dysfunction	23064	SETX	ORPHA:357043
HP:0002493	Upper motor neuron dysfunction	9256	TSPOAP1	ORPHA:101150
HP:0002493	Upper motor neuron dysfunction	7054	TH	ORPHA:101150
HP:0002493	Upper motor neuron dysfunction	27235	COQ2	OMIM:146500
HP:0002493	Upper motor neuron dysfunction	23114	NFASC	OMIM:618356
HP:0002493	Upper motor neuron dysfunction	5610	EIF2AK2	OMIM:619687
HP:0002493	Upper motor neuron dysfunction	116461	TSEN15	OMIM:617026
HP:0002493	Upper motor neuron dysfunction	116461	TSEN15	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	8492	PRSS12	OMIM:249500
HP:0002493	Upper motor neuron dysfunction	5010	CLDN11	OMIM:619328
HP:0002493	Upper motor neuron dysfunction	4125	MAN2B1	OMIM:248500
HP:0002493	Upper motor neuron dysfunction	80224	NUBPL	OMIM:618242
HP:0002493	Upper motor neuron dysfunction	4547	MTTP	ORPHA:14
HP:0002493	Upper motor neuron dysfunction	51102	MECR	OMIM:617282
HP:0002493	Upper motor neuron dysfunction	5611	DNAJC3	OMIM:616192
HP:0002493	Upper motor neuron dysfunction	5611	DNAJC3	ORPHA:445062
HP:0002493	Upper motor neuron dysfunction	1200	TPP1	OMIM:609270
HP:0002493	Upper motor neuron dysfunction	1200	TPP1	ORPHA:284324
HP:0002493	Upper motor neuron dysfunction	84668	HYCC1	OMIM:610532
HP:0002493	Upper motor neuron dysfunction	1938	EEF2	ORPHA:101112
HP:0002493	Upper motor neuron dysfunction	2892	GRIA3	ORPHA:364028
HP:0002493	Upper motor neuron dysfunction	9927	MFN2	OMIM:609260
HP:0002493	Upper motor neuron dysfunction	9927	MFN2	ORPHA:99947
HP:0002493	Upper motor neuron dysfunction	538	ATP7A	OMIM:309400
HP:0002493	Upper motor neuron dysfunction	3032	HADHB	ORPHA:746
HP:0002493	Upper motor neuron dysfunction	3030	HADHA	ORPHA:746
HP:0002493	Upper motor neuron dysfunction	5375	PMP2	OMIM:618279
HP:0002493	Upper motor neuron dysfunction	5173	PDYN	ORPHA:101108
HP:0002493	Upper motor neuron dysfunction	5173	PDYN	OMIM:610245
HP:0002493	Upper motor neuron dysfunction	25978	CHMP2B	OMIM:600795
HP:0002493	Upper motor neuron dysfunction	23636	NUP62	ORPHA:225154
HP:0002493	Upper motor neuron dysfunction	124454	EARS2	OMIM:614924
HP:0002493	Upper motor neuron dysfunction	8139	GAN	ORPHA:643
HP:0002493	Upper motor neuron dysfunction	54936	ADPRS	OMIM:618170
HP:0002493	Upper motor neuron dysfunction	1678	TIMM8A	ORPHA:52368
HP:0002493	Upper motor neuron dysfunction	84842	HPDL	OMIM:619027
HP:0002493	Upper motor neuron dysfunction	55129	ANO10	OMIM:613728
HP:0002493	Upper motor neuron dysfunction	2643	GCH1	OMIM:128230
HP:0002493	Upper motor neuron dysfunction	2643	GCH1	ORPHA:98808
HP:0002493	Upper motor neuron dysfunction	9131	AIFM1	OMIM:300232
HP:0002493	Upper motor neuron dysfunction	9131	AIFM1	ORPHA:83629
HP:0002493	Upper motor neuron dysfunction	8506	CNTNAP1	OMIM:618186
HP:0002493	Upper motor neuron dysfunction	54209	TREM2	OMIM:618193
HP:0002493	Upper motor neuron dysfunction	6311	ATXN2	OMIM:183090
HP:0002493	Upper motor neuron dysfunction	116228	COX20	OMIM:619054
HP:0002493	Upper motor neuron dysfunction	64207	IRF2BPL	OMIM:618088
HP:0002493	Upper motor neuron dysfunction	55157	DARS2	ORPHA:137898
HP:0002493	Upper motor neuron dysfunction	55157	DARS2	OMIM:611105
HP:0002493	Upper motor neuron dysfunction	22	ABCB7	OMIM:301310
HP:0002493	Upper motor neuron dysfunction	100303755	PET117	OMIM:619063
HP:0002493	Upper motor neuron dysfunction	26090	ABHD12	OMIM:612674
HP:0002493	Upper motor neuron dysfunction	144165	PRICKLE1	OMIM:612437
HP:0002493	Upper motor neuron dysfunction	5376	PMP22	ORPHA:3115
HP:0002493	Upper motor neuron dysfunction	4359	MPZ	ORPHA:3115
HP:0002493	Upper motor neuron dysfunction	23533	PIK3R5	ORPHA:64753
HP:0002493	Upper motor neuron dysfunction	4744	NEFH	OMIM:616924
HP:0002493	Upper motor neuron dysfunction	90624	LYRM7	OMIM:615838
HP:0002493	Upper motor neuron dysfunction	3954	LETM1	OMIM:620089
HP:0002493	Upper motor neuron dysfunction	4556	MT-TE	ORPHA:2596
HP:0002493	Upper motor neuron dysfunction	6314	ATXN7	ORPHA:94147
HP:0002493	Upper motor neuron dysfunction	6314	ATXN7	OMIM:164500
HP:0002493	Upper motor neuron dysfunction	6622	SNCA	ORPHA:171695
HP:0002493	Upper motor neuron dysfunction	1861	TOR1A	OMIM:128100
HP:0002493	Upper motor neuron dysfunction	6310	ATXN1	OMIM:164400
HP:0002493	Upper motor neuron dysfunction	2258	FGF13	OMIM:301058
HP:0002493	Upper motor neuron dysfunction	9150	CTDP1	OMIM:604168
HP:0002493	Upper motor neuron dysfunction	55187	VPS13D	OMIM:607317
HP:0002493	Upper motor neuron dysfunction	57505	AARS2	OMIM:615889
HP:0002493	Upper motor neuron dysfunction	1644	DDC	OMIM:608643
HP:0002493	Upper motor neuron dysfunction	84679	SLC9A7	OMIM:301024
HP:0002493	Upper motor neuron dysfunction	91137	SLC25A46	OMIM:616505
HP:0002493	Upper motor neuron dysfunction	1737	DLAT	ORPHA:79244
HP:0002493	Upper motor neuron dysfunction	58494	JAM2	OMIM:618824
HP:0002493	Upper motor neuron dysfunction	4929	NR4A2	ORPHA:98808
HP:0002493	Upper motor neuron dysfunction	3615	IMPDH2	ORPHA:98808
HP:0002493	Upper motor neuron dysfunction	79042	TSEN34	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	57570	TRMT5	OMIM:616539
HP:0002493	Upper motor neuron dysfunction	9215	LARGE1	OMIM:608840
HP:0002493	Upper motor neuron dysfunction	51	ACOX1	OMIM:264470
HP:0002493	Upper motor neuron dysfunction	29920	PYCR2	OMIM:616420
HP:0002493	Upper motor neuron dysfunction	22943	DKK1	ORPHA:268882
HP:0002493	Upper motor neuron dysfunction	8086	AAAS	OMIM:231550
HP:0002493	Upper motor neuron dysfunction	84706	GPT2	ORPHA:477673
HP:0002493	Upper motor neuron dysfunction	1968	EIF2S3	OMIM:300148
HP:0002493	Upper motor neuron dysfunction	7305	TYROBP	OMIM:221770
HP:0002493	Upper motor neuron dysfunction	4747	NEFL	OMIM:617882
HP:0002493	Upper motor neuron dysfunction	221927	BRAT1	OMIM:614498
HP:0002493	Upper motor neuron dysfunction	1374	CPT1A	ORPHA:156
HP:0002493	Upper motor neuron dysfunction	4594	MMUT	ORPHA:289916
HP:0002493	Upper motor neuron dysfunction	875	CBS	ORPHA:394
HP:0002493	Upper motor neuron dysfunction	3769	KCNJ13	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	343035	RD3	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	145226	RDH12	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	1406	CRX	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	64802	NMNAT1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	57096	RPGRIP1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	80184	CEP290	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	10383	TUBB4B	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9742	IFT140	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	85015	USP45	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	6121	RPE65	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	23418	CRB1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	5130	PCYT1A	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9657	IQCB1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	392255	GDF6	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	392255	GDF6	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	23746	AIPL1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	3000	GUCY2D	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9227	LRAT	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	55812	SPATA7	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	7287	TULP1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	167691	LCA5	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	3614	IMPDH1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	7157	TP53	ORPHA:2807
HP:0002493	Upper motor neuron dysfunction	5590	PRKCZ	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	2563	GABRD	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	23013	SPEN	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	8510	MMP23B	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	7798	LUZP1	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	6497	SKI	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	10630	PDPN	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	3339	HSPG2	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	10277	UBE4B	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	8514	KCNAB2	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	473	RERE	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	63976	PRDM16	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	54897	CASZ1	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	1776	DNASE1L3	ORPHA:36412
HP:0002493	Upper motor neuron dysfunction	148789	B3GALNT2	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	29925	GMPPB	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	79147	FKRP	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	29954	POMT2	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	2218	FKTN	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	55624	POMGNT1	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	10585	POMT1	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	8517	IKBKG	ORPHA:464
HP:0002493	Upper motor neuron dysfunction	4072	EPCAM	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	4292	MLH1	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	5395	PMS2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	27030	MLH3	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	22909	FAN1	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	7048	TGFBR2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	2956	MSH6	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	5378	PMS1	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	4436	MSH2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	64218	SEMA4A	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	657	BMPR1A	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	6224	RPS20	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	5264	PHYH	ORPHA:773
HP:0002493	Upper motor neuron dysfunction	5191	PEX7	ORPHA:773
HP:0002493	Upper motor neuron dysfunction	5159	PDGFRB	ORPHA:2591
HP:0002493	Upper motor neuron dysfunction	7274	TTPA	ORPHA:96
HP:0002493	Upper motor neuron dysfunction	54476	RNF216	ORPHA:1173
HP:0002493	Upper motor neuron dysfunction	4509	MT-ATP8	ORPHA:480
HP:0002493	Upper motor neuron dysfunction	50484	RRM2B	ORPHA:480
HP:0002493	Upper motor neuron dysfunction	9573	GDF3	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	4222	MEOX1	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	9990	SLC12A6	ORPHA:1496
HP:0002493	Upper motor neuron dysfunction	51002	TPRKB	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	55644	OSGEP	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	57122	NUP107	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	10785	WDR4	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	55746	NUP133	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	112858	TP53RK	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	8270	LAGE3	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	5167	ENPP1	ORPHA:758
HP:0002493	Upper motor neuron dysfunction	368	ABCC6	ORPHA:758
HP:0002493	Upper motor neuron dysfunction	6658	SOX3	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	9915	ARNT2	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	5015	OTX2	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	4668	NAGA	ORPHA:79279
HP:0002493	Upper motor neuron dysfunction	5728	PTEN	ORPHA:137608
HP:0002493	Upper motor neuron dysfunction	6389	SDHA	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	91942	NDUFAF2	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	6834	SURF1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4723	NDUFV1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	55572	FOXRED1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4729	NDUFV2	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	55967	NDUFA12	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4720	NDUFS2	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4724	NDUFS4	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4728	NDUFS8	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	137682	NDUFAF6	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4722	NDUFS3	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	79133	NDUFAF5	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	5160	PDHA1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	100131801	PET100	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	1892	ECHS1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	123263	MTFMT	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	374291	NDUFS7	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4705	NDUFA10	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	51601	LIPT1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4719	NDUFS1	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4695	NDUFA2	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4697	NDUFA4	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	4704	NDUFA9	ORPHA:255241
HP:0002493	Upper motor neuron dysfunction	23769	FLRT1	ORPHA:320406
HP:0002493	Upper motor neuron dysfunction	64837	KLC2	ORPHA:320406
HP:0002493	Upper motor neuron dysfunction	8242	KDM5C	OMIM:300534
HP:0002493	Upper motor neuron dysfunction	200205	IBA57	ORPHA:468661
HP:0002493	Upper motor neuron dysfunction	6095	RORA	OMIM:618060
HP:0002493	Upper motor neuron dysfunction	10134	BCAP31	OMIM:300475
HP:0002493	Upper motor neuron dysfunction	10134	BCAP31	ORPHA:369939
HP:0002493	Upper motor neuron dysfunction	5457	POU4F1	ORPHA:314647
HP:0002493	Upper motor neuron dysfunction	23261	CAMTA1	ORPHA:314647
HP:0002493	Upper motor neuron dysfunction	6531	SLC6A3	ORPHA:238455
HP:0002493	Upper motor neuron dysfunction	6531	SLC6A3	OMIM:613135
HP:0002493	Upper motor neuron dysfunction	56997	COQ8A	ORPHA:139485
HP:0002493	Upper motor neuron dysfunction	56997	COQ8A	OMIM:612016
HP:0002493	Upper motor neuron dysfunction	25914	RTTN	OMIM:614833
HP:0002493	Upper motor neuron dysfunction	25914	RTTN	ORPHA:468631
HP:0002493	Upper motor neuron dysfunction	2911	GRM1	OMIM:614831
HP:0002493	Upper motor neuron dysfunction	8575	PRKRA	ORPHA:210571
HP:0002493	Upper motor neuron dysfunction	8575	PRKRA	OMIM:612067
HP:0002493	Upper motor neuron dysfunction	7343	UBTF	OMIM:617672
HP:0002493	Upper motor neuron dysfunction	7343	UBTF	ORPHA:500180
HP:0002493	Upper motor neuron dysfunction	6575	SLC20A2	OMIM:213600
HP:0002493	Upper motor neuron dysfunction	5192	PEX10	ORPHA:247815
HP:0002493	Upper motor neuron dysfunction	23312	DMXL2	ORPHA:453533
HP:0002493	Upper motor neuron dysfunction	146057	TTBK2	ORPHA:98767
HP:0002493	Upper motor neuron dysfunction	5521	PPP2R2B	ORPHA:98762
HP:0002493	Upper motor neuron dysfunction	57462	MYORG	OMIM:618317
HP:0002493	Upper motor neuron dysfunction	3662	IRF4	ORPHA:3452
HP:0002493	Upper motor neuron dysfunction	6908	TBP	ORPHA:98759
HP:0002493	Upper motor neuron dysfunction	6324	SCN1B	OMIM:617350
HP:0002493	Upper motor neuron dysfunction	11284	PNKP	OMIM:616267
HP:0002493	Upper motor neuron dysfunction	8831	SYNGAP1	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	1173	AP2M1	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	1106	CHD2	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	6529	SLC6A1	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	3980	LIG3	OMIM:619780
HP:0002493	Upper motor neuron dysfunction	54832	VPS13C	OMIM:616840
HP:0002493	Upper motor neuron dysfunction	3748	KCNC3	OMIM:605259
HP:0002493	Upper motor neuron dysfunction	79868	ALG13	OMIM:300884
HP:0002493	Upper motor neuron dysfunction	9829	DNAJC6	OMIM:615528
HP:0002493	Upper motor neuron dysfunction	9829	DNAJC6	ORPHA:391411
HP:0002493	Upper motor neuron dysfunction	2058	EPRS1	OMIM:617951
HP:0002493	Upper motor neuron dysfunction	54974	THG1L	OMIM:618800
HP:0002493	Upper motor neuron dysfunction	9217	VAPB	OMIM:608627
HP:0002493	Upper motor neuron dysfunction	9757	KMT2B	ORPHA:589618
HP:0002493	Upper motor neuron dysfunction	35	ACADS	OMIM:201470
HP:0002493	Upper motor neuron dysfunction	57468	SLC12A5	OMIM:616645
HP:0002493	Upper motor neuron dysfunction	5420	PODXL	ORPHA:391411
HP:0002493	Upper motor neuron dysfunction	84197	POMK	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	1807	DPYS	OMIM:222748
HP:0002493	Upper motor neuron dysfunction	5080	PAX6	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	627	BDNF	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	7490	WT1	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	6687	SPG7	ORPHA:35689
HP:0002493	Upper motor neuron dysfunction	2521	FUS	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	8878	SQSTM1	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	7415	VCP	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	23435	TARDBP	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	29110	TBK1	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	400916	CHCHD10	ORPHA:275872
HP:0002493	Upper motor neuron dysfunction	10667	FARS2	ORPHA:466722
HP:0002493	Upper motor neuron dysfunction	54809	SAMD9	OMIM:617053
HP:0002493	Upper motor neuron dysfunction	162417	NAGS	ORPHA:927
HP:0002493	Upper motor neuron dysfunction	5921	RASA1	ORPHA:90307
HP:0002493	Upper motor neuron dysfunction	7276	TTR	OMIM:105210
HP:0002493	Upper motor neuron dysfunction	150468	CKAP2L	ORPHA:3255
HP:0002493	Upper motor neuron dysfunction	10371	SEMA3A	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	81848	SPRY4	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	23767	FLRT3	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	128674	PROKR2	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	79625	NDNF	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	2253	FGF8	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	389549	FEZF1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	1630	DCC	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	3730	ANOS1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	54756	IL17RD	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	6663	SOX10	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	285025	CCDC141	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	60675	PROK2	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	55636	CHD7	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	1848	DUSP6	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	6870	TACR3	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	55717	WDR11	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	9394	HS6ST1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	8820	HESX1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	8822	FGF17	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	10755	GIPC1	ORPHA:98897
HP:0002493	Upper motor neuron dysfunction	100996717	NOTCH2NLC	ORPHA:98897
HP:0002493	Upper motor neuron dysfunction	126792	B3GALT6	OMIM:271640
HP:0002493	Upper motor neuron dysfunction	404672	GTF2H5	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	833	CARS1	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2068	ERCC2	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	7737	RNF113A	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	136647	MPLKIP	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	6897	TARS1	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2071	ERCC3	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2961	GTF2E2	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	3155	HMGCL	ORPHA:20
HP:0002493	Upper motor neuron dysfunction	271	AMPD2	ORPHA:401805
HP:0002493	Upper motor neuron dysfunction	271	AMPD2	OMIM:615686
HP:0002493	Upper motor neuron dysfunction	10159	ATP6AP2	ORPHA:363654
HP:0002493	Upper motor neuron dysfunction	23516	SLC39A14	OMIM:617013
HP:0002493	Upper motor neuron dysfunction	23516	SLC39A14	ORPHA:521406
HP:0002493	Upper motor neuron dysfunction	23204	ARL6IP1	OMIM:615685
HP:0002493	Upper motor neuron dysfunction	23204	ARL6IP1	ORPHA:401780
HP:0002493	Upper motor neuron dysfunction	587	BCAT2	OMIM:618850
HP:0002493	Upper motor neuron dysfunction	116150	NUS1	OMIM:617082
HP:0002493	Upper motor neuron dysfunction	197258	FCSK	OMIM:618324
HP:0002493	Upper motor neuron dysfunction	55331	ACER3	OMIM:617762
HP:0002493	Upper motor neuron dysfunction	1822	ATN1	OMIM:618494
HP:0002493	Upper motor neuron dysfunction	160418	TMTC3	OMIM:617255
HP:0002493	Upper motor neuron dysfunction	51112	TRAPPC12	OMIM:617669
HP:0002493	Upper motor neuron dysfunction	54676	GTPBP2	OMIM:617988
HP:0002493	Upper motor neuron dysfunction	819	CAMLG	OMIM:620201
HP:0002493	Upper motor neuron dysfunction	84081	NSRP1	OMIM:620001
HP:0002494	Abnormal rapid eye movement sleep	3060	HCRT	OMIM:161400
HP:0002494	Abnormal rapid eye movement sleep	3060	HCRT	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	1512	CTSH	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	5032	P2RY11	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	4340	MOG	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	3119	HLA-DQB1	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	22891	ZNF365	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	7292	TNFSF4	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	3123	HLA-DRB1	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	6492	SIM1	ORPHA:398079
HP:0002494	Abnormal rapid eye movement sleep	5981	RFC1	OMIM:614575
HP:0002494	Abnormal rapid eye movement sleep	54551	MAGEL2	ORPHA:398069
HP:0002494	Abnormal rapid eye movement sleep	27235	COQ2	ORPHA:227510
HP:0002494	Abnormal rapid eye movement sleep	27235	COQ2	ORPHA:98933
HP:0002494	Abnormal rapid eye movement sleep	1786	DNMT1	OMIM:604121
HP:0002494	Abnormal rapid eye movement sleep	4221	MEN1	ORPHA:97279
HP:0002494	Abnormal rapid eye movement sleep	7528	YY1	ORPHA:97279
HP:0002497	Spastic ataxia	10749	KIF1C	ORPHA:397946
HP:0002497	Spastic ataxia	10749	KIF1C	OMIM:611302
HP:0002497	Spastic ataxia	5654	HTRA1	ORPHA:199354
HP:0002497	Spastic ataxia	92935	MARS2	OMIM:611390
HP:0002497	Spastic ataxia	92935	MARS2	ORPHA:314603
HP:0002497	Spastic ataxia	56978	PRDM8	OMIM:616640
HP:0002497	Spastic ataxia	55149	MTPAP	OMIM:613672
HP:0002497	Spastic ataxia	10381	TUBB3	ORPHA:300570
HP:0002497	Spastic ataxia	10939	AFG3L2	OMIM:614487
HP:0002497	Spastic ataxia	4038	LRP4	OMIM:614305
HP:0002497	Spastic ataxia	54834	GDAP2	OMIM:618369
HP:0002497	Spastic ataxia	55157	DARS2	ORPHA:137898
HP:0002497	Spastic ataxia	6843	VAMP1	OMIM:108600
HP:0002497	Spastic ataxia	6843	VAMP1	ORPHA:251282
HP:0002497	Spastic ataxia	27249	MMADHC	OMIM:277410
HP:0002497	Spastic ataxia	26115	TANC2	OMIM:618906
HP:0002497	Spastic ataxia	6687	SPG7	OMIM:607259
HP:0002497	Spastic ataxia	8913	CACNA1G	OMIM:616795
HP:0002497	Spastic ataxia	6905	TBCE	ORPHA:496756
HP:0002497	Spastic ataxia	498	ATP5F1A	OMIM:620358
HP:0002497	Spastic ataxia	51218	GLRX5	OMIM:616859
HP:0002497	Spastic ataxia	26278	SACS	OMIM:270550
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2263	FGFR2	OMIM:149730
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3549	IHH	OMIM:112500
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3549	IHH	OMIM:607778
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	57167	SALL4	ORPHA:959
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2316	FLNA	ORPHA:1826
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	658	BMPR1B	OMIM:616849
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2778	GNAS	ORPHA:79445
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5727	PTCH1	OMIM:109400
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	23019	CNOT1	ORPHA:556955
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3756	KCNH1	ORPHA:420561
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2535	FZD2	OMIM:164745
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2535	FZD2	ORPHA:93328
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	23476	BRD4	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9126	SMC3	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8243	SMC1A	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	25836	NIPBL	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55869	HDAC8	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5885	RAD21	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	90	ACVR1	OMIM:135100
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	57020	VPS35L	OMIM:619135
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9241	NOG	OMIM:186570
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9241	NOG	OMIM:611377
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8200	GDF5	ORPHA:63442
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8200	GDF5	OMIM:113100
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3209	HOXA13	OMIM:140000
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3209	HOXA13	ORPHA:2438
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	10847	SRCAP	OMIM:136140
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55215	FANCI	OMIM:609053
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6662	SOX9	OMIM:114290
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5116	PCNT	OMIM:210720
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	26040	SETBP1	OMIM:269150
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	26040	SETBP1	ORPHA:798
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	388015	RTL1	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8788	DLK1	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55384	MEG3	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3911	LAMA5	OMIM:620076
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	124583	CANT1	OMIM:251450
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	7516	XRCC2	OMIM:617247
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2177	FANCD2	OMIM:227646
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9896	FIG4	ORPHA:3472
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55697	VAC14	ORPHA:3472
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	64327	LMBR1	ORPHA:93321
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6469	SHH	ORPHA:93321
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	7204	TRIO	ORPHA:476126
HP:0009657	Triangular shaped thumb phalanx	3756	KCNH1	ORPHA:420561
HP:0009659	Partial absence of thumb	2263	FGFR2	OMIM:149730
HP:0009659	Partial absence of thumb	7516	XRCC2	OMIM:617247
HP:0009659	Partial absence of thumb	2177	FANCD2	OMIM:227646
HP:0009659	Partial absence of thumb	9896	FIG4	ORPHA:3472
HP:0009659	Partial absence of thumb	55697	VAC14	ORPHA:3472
HP:0009659	Partial absence of thumb	64327	LMBR1	ORPHA:93321
HP:0009659	Partial absence of thumb	6469	SHH	ORPHA:93321
HP:0009659	Partial absence of thumb	7204	TRIO	ORPHA:476126
HP:0009660	Short phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009660	Short phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009660	Short phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009660	Short phalanx of the thumb	2316	FLNA	ORPHA:1826
HP:0009660	Short phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009660	Short phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009660	Short phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009660	Short phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009660	Short phalanx of the thumb	2778	GNAS	ORPHA:79445
HP:0009660	Short phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0009660	Short phalanx of the thumb	3756	KCNH1	ORPHA:420561
HP:0009660	Short phalanx of the thumb	2535	FZD2	OMIM:164745
HP:0009660	Short phalanx of the thumb	2535	FZD2	ORPHA:93328
HP:0009660	Short phalanx of the thumb	23476	BRD4	ORPHA:199
HP:0009660	Short phalanx of the thumb	9126	SMC3	ORPHA:199
HP:0009660	Short phalanx of the thumb	8243	SMC1A	ORPHA:199
HP:0009660	Short phalanx of the thumb	25836	NIPBL	ORPHA:199
HP:0009660	Short phalanx of the thumb	55869	HDAC8	ORPHA:199
HP:0009660	Short phalanx of the thumb	5885	RAD21	ORPHA:199
HP:0009660	Short phalanx of the thumb	90	ACVR1	OMIM:135100
HP:0009660	Short phalanx of the thumb	57020	VPS35L	OMIM:619135
HP:0009660	Short phalanx of the thumb	9241	NOG	OMIM:186570
HP:0009660	Short phalanx of the thumb	9241	NOG	OMIM:611377
HP:0009660	Short phalanx of the thumb	8200	GDF5	ORPHA:63442
HP:0009660	Short phalanx of the thumb	8200	GDF5	OMIM:113100
HP:0009660	Short phalanx of the thumb	3209	HOXA13	OMIM:140000
HP:0009660	Short phalanx of the thumb	3209	HOXA13	ORPHA:2438
HP:0009660	Short phalanx of the thumb	10847	SRCAP	OMIM:136140
HP:0009660	Short phalanx of the thumb	55215	FANCI	OMIM:609053
HP:0009660	Short phalanx of the thumb	6662	SOX9	OMIM:114290
HP:0009660	Short phalanx of the thumb	5116	PCNT	OMIM:210720
HP:0009660	Short phalanx of the thumb	26040	SETBP1	OMIM:269150
HP:0009660	Short phalanx of the thumb	26040	SETBP1	ORPHA:798
HP:0009660	Short phalanx of the thumb	388015	RTL1	ORPHA:96334
HP:0009660	Short phalanx of the thumb	8788	DLK1	ORPHA:96334
HP:0009660	Short phalanx of the thumb	55384	MEG3	ORPHA:96334
HP:0009660	Short phalanx of the thumb	3911	LAMA5	OMIM:620076
HP:0009660	Short phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009942	Duplication of thumb phalanx	64327	LMBR1	OMIM:174500
HP:0009942	Duplication of thumb phalanx	8200	GDF5	ORPHA:93384
HP:0009942	Duplication of thumb phalanx	658	BMPR1B	ORPHA:93384
HP:0009942	Duplication of thumb phalanx	51715	RAB23	OMIM:201000
HP:0009942	Duplication of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009942	Duplication of thumb phalanx	55012	PPP2R3C	OMIM:618419
HP:0009942	Duplication of thumb phalanx	5053	PAH	ORPHA:2209
HP:0009942	Duplication of thumb phalanx	124583	CANT1	OMIM:251450
HP:0009942	Duplication of thumb phalanx	2702	GJA5	OMIM:612474
HP:0009942	Duplication of thumb phalanx	2703	GJA8	OMIM:612474
HP:0009942	Duplication of thumb phalanx	29089	UBE2T	OMIM:616435
HP:0009942	Duplication of thumb phalanx	2261	FGFR3	OMIM:620192
HP:0009942	Duplication of thumb phalanx	2261	FGFR3	ORPHA:2363
HP:0009942	Duplication of thumb phalanx	2263	FGFR2	ORPHA:2363
HP:0009942	Duplication of thumb phalanx	2255	FGF10	ORPHA:2363
HP:0009942	Duplication of thumb phalanx	374654	KIF7	OMIM:200990
HP:0009942	Duplication of thumb phalanx	6608	SMO	OMIM:601707
HP:0009942	Duplication of thumb phalanx	71	ACTG1	ORPHA:2995
HP:0009942	Duplication of thumb phalanx	60	ACTB	ORPHA:2995
HP:0009942	Duplication of thumb phalanx	2737	GLI3	OMIM:174700
HP:0009942	Duplication of thumb phalanx	2176	FANCC	OMIM:227645
HP:0009942	Duplication of thumb phalanx	2178	FANCE	OMIM:600901
HP:0009942	Duplication of thumb phalanx	157570	ESCO2	ORPHA:3103
HP:0009942	Duplication of thumb phalanx	6472	SHMT2	OMIM:619121
HP:0009942	Duplication of thumb phalanx	8260	NAA10	ORPHA:568
HP:0009942	Duplication of thumb phalanx	54880	BCOR	ORPHA:568
HP:0009942	Duplication of thumb phalanx	2175	FANCA	OMIM:227650
HP:0009942	Duplication of thumb phalanx	6910	TBX5	OMIM:142900
HP:0009942	Duplication of thumb phalanx	6135	RPL11	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6138	RPL15	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6229	RPS24	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6125	RPL5	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6204	RPS10	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6224	RPS20	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6165	RPL35A	ORPHA:124
HP:0009942	Duplication of thumb phalanx	2623	GATA1	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6223	RPS19	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6223	RPS19	OMIM:105650
HP:0009942	Duplication of thumb phalanx	6232	RPS27	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6231	RPS26	ORPHA:124
HP:0009942	Duplication of thumb phalanx	11224	RPL35	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6160	RPL31	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6218	RPS17	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6201	RPS7	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6155	RPL27	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6154	RPL26	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6210	RPS15A	ORPHA:124
HP:0009942	Duplication of thumb phalanx	90121	TSR2	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6141	RPL18	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6235	RPS29	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6234	RPS28	ORPHA:124
HP:0009942	Duplication of thumb phalanx	51816	ADA2	ORPHA:124
HP:0009942	Duplication of thumb phalanx	6299	SALL1	OMIM:107480
HP:0009942	Duplication of thumb phalanx	6299	SALL1	ORPHA:857
HP:0009942	Duplication of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009942	Duplication of thumb phalanx	1855	DVL1	OMIM:616331
HP:0009942	Duplication of thumb phalanx	57122	NUP107	OMIM:616730
HP:0009942	Duplication of thumb phalanx	57122	NUP107	OMIM:618348
HP:0009942	Duplication of thumb phalanx	2735	GLI1	OMIM:174400
HP:0009942	Duplication of thumb phalanx	51339	DACT1	ORPHA:857
HP:0009942	Duplication of thumb phalanx	10992	SF3B2	OMIM:164210
HP:0009942	Duplication of thumb phalanx	27152	INTU	OMIM:617926
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0025300	Malar rash	7156	TOP3A	OMIM:618097
HP:0025300	Malar rash	8558	CDK10	OMIM:617694
HP:0025300	Malar rash	2212	FCGR2A	OMIM:152700
HP:0025300	Malar rash	2213	FCGR2B	OMIM:152700
HP:0025300	Malar rash	26191	PTPN22	OMIM:152700
HP:0025300	Malar rash	11277	TREX1	OMIM:152700
HP:0025300	Malar rash	1493	CTLA4	OMIM:152700
HP:0025300	Malar rash	1773	DNASE1	OMIM:152700
HP:0025300	Malar rash	641	BLM	OMIM:210900
HP:0025300	Malar rash	843	CASP10	OMIM:603909
HP:0025300	Malar rash	340061	STING1	OMIM:615934
HP:0025300	Malar rash	6775	STAT4	ORPHA:93552
HP:0025300	Malar rash	6696	SPP1	ORPHA:93552
HP:0025300	Malar rash	3654	IRAK1	ORPHA:93552
HP:0025300	Malar rash	51284	TLR7	OMIM:301080
HP:0025303	Episodic	5741	PTH	OMIM:146200
HP:0025312	Esophoria	6899	TBX1	OMIM:188400
HP:0025312	Esophoria	51102	MECR	OMIM:617282
HP:0025312	Esophoria	51102	MECR	ORPHA:508093
HP:0025312	Esophoria	6334	SCN8A	OMIM:614306
HP:0025312	Esophoria	3211	HOXB1	OMIM:614744
HP:0025312	Esophoria	57498	KIDINS220	ORPHA:521390
HP:0025313	Exophoria	2702	GJA5	OMIM:612474
HP:0025313	Exophoria	2703	GJA8	OMIM:612474
HP:0025313	Exophoria	27125	AFF4	ORPHA:444077
HP:0025313	Exophoria	57531	HACE1	ORPHA:464282
HP:0025313	Exophoria	60684	TRAPPC11	ORPHA:369840
HP:0025318	Ovarian carcinoma	672	BRCA1	ORPHA:1333
HP:0025318	Ovarian carcinoma	672	BRCA1	OMIM:617883
HP:0025318	Ovarian carcinoma	285282	RABL3	ORPHA:1333
HP:0025318	Ovarian carcinoma	7157	TP53	ORPHA:1333
HP:0025318	Ovarian carcinoma	675	BRCA2	ORPHA:1333
HP:0025318	Ovarian carcinoma	3845	KRAS	ORPHA:1333
HP:0025318	Ovarian carcinoma	1029	CDKN2A	ORPHA:1333
HP:0025318	Ovarian carcinoma	79728	PALB2	ORPHA:1333
HP:0025318	Ovarian carcinoma	4089	SMAD4	ORPHA:1333
HP:0025318	Ovarian carcinoma	23022	PALLD	ORPHA:1333
HP:0025318	Ovarian carcinoma	5889	RAD51C	OMIM:613399
HP:0025318	Ovarian carcinoma	5728	PTEN	OMIM:158350
HP:0025318	Ovarian carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0025318	Ovarian carcinoma	50940	PDE11A	ORPHA:1359
HP:0025318	Ovarian carcinoma	5727	PTCH1	OMIM:109400
HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0025321	Copper accumulation in liver	123264	SLC51B	OMIM:619481
HP:0025321	Copper accumulation in liver	84317	CCDC115	OMIM:616828
HP:0025321	Copper accumulation in liver	10667	FARS2	OMIM:614946
HP:0025321	Copper accumulation in liver	55532	SLC30A10	ORPHA:309854
HP:0025323	Abnormal arterial physiology	94	ACVRL1	OMIM:600376
HP:0025323	Abnormal arterial physiology	4854	NOTCH3	ORPHA:136
HP:0025323	Abnormal arterial physiology	51816	ADA2	OMIM:182410
HP:0025323	Abnormal arterial physiology	2022	ENG	OMIM:187300
HP:0025323	Abnormal arterial physiology	81031	SLC2A10	OMIM:208050
HP:0025323	Abnormal arterial physiology	6651	SON	ORPHA:500150
HP:0025323	Abnormal arterial physiology	2982	GUCY1A1	OMIM:615750
HP:0025323	Abnormal arterial physiology	3717	JAK2	OMIM:614521
HP:0025323	Abnormal arterial physiology	50485	SMARCAL1	ORPHA:1830
HP:0025323	Abnormal arterial physiology	6331	SCN5A	ORPHA:1344
HP:0025323	Abnormal arterial physiology	4878	NPPA	ORPHA:1344
HP:0025323	Abnormal arterial physiology	2783	GNB2	OMIM:619503
HP:0025323	Abnormal arterial physiology	79184	BRCC3	ORPHA:280679
HP:0025323	Abnormal arterial physiology	1282	COL4A1	OMIM:175780
HP:0025323	Abnormal arterial physiology	4629	MYH11	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7046	TGFBR1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7048	TGFBR2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4015	LOX	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4087	SMAD2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7043	TGFB3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4088	SMAD3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7042	TGFB2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4089	SMAD4	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2200	FBN1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	59	ACTA2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	5592	PRKG1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2301	FOXE3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4144	MAT2A	ORPHA:91387
HP:0025323	Abnormal arterial physiology	23493	HEY2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	8076	MFAP5	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4638	MYLK	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2006	ELN	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2658	GDF2	ORPHA:774
HP:0025323	Abnormal arterial physiology	7092	TLL1	ORPHA:99103
HP:0025323	Abnormal arterial physiology	57057	TBX20	ORPHA:99103
HP:0025323	Abnormal arterial physiology	4624	MYH6	ORPHA:99103
HP:0025323	Abnormal arterial physiology	1482	NKX2-5	ORPHA:99103
HP:0025323	Abnormal arterial physiology	70	ACTC1	ORPHA:99103
HP:0025323	Abnormal arterial physiology	10370	CITED2	ORPHA:99103
HP:0025323	Abnormal arterial physiology	2626	GATA4	ORPHA:99103
HP:0025323	Abnormal arterial physiology	2627	GATA6	ORPHA:99103
HP:0025323	Abnormal arterial physiology	4607	MYBPC3	OMIM:115197
HP:0025323	Abnormal arterial physiology	2717	GLA	OMIM:301500
HP:0025323	Abnormal arterial physiology	2717	GLA	ORPHA:324
HP:0025323	Abnormal arterial physiology	71	ACTG1	ORPHA:2995
HP:0025323	Abnormal arterial physiology	60	ACTB	ORPHA:2995
HP:0025323	Abnormal arterial physiology	3845	KRAS	OMIM:600268
HP:0025323	Abnormal arterial physiology	10019	SH2B3	ORPHA:3318
HP:0025323	Abnormal arterial physiology	811	CALR	ORPHA:3318
HP:0025323	Abnormal arterial physiology	7157	TP53	ORPHA:3318
HP:0025323	Abnormal arterial physiology	57674	RNF213	OMIM:607151
HP:0025323	Abnormal arterial physiology	11093	ADAMTS13	OMIM:274150
HP:0025323	Abnormal arterial physiology	55901	THSD1	ORPHA:231160
HP:0025323	Abnormal arterial physiology	7049	TGFBR3	ORPHA:231160
HP:0025323	Abnormal arterial physiology	83854	ANGPTL6	ORPHA:231160
HP:0025323	Abnormal arterial physiology	26191	PTPN22	ORPHA:397
HP:0025323	Abnormal arterial physiology	26191	PTPN22	ORPHA:900
HP:0025323	Abnormal arterial physiology	3106	HLA-B	ORPHA:397
HP:0025323	Abnormal arterial physiology	3106	HLA-B	ORPHA:3287
HP:0025323	Abnormal arterial physiology	3106	HLA-B	ORPHA:117
HP:0025323	Abnormal arterial physiology	3123	HLA-DRB1	ORPHA:397
HP:0025323	Abnormal arterial physiology	8974	P4HA2	ORPHA:397
HP:0025323	Abnormal arterial physiology	4352	MPL	ORPHA:71493
HP:0025323	Abnormal arterial physiology	7066	THPO	ORPHA:71493
HP:0025323	Abnormal arterial physiology	875	CBS	ORPHA:394
HP:0025323	Abnormal arterial physiology	5290	PIK3CA	ORPHA:60040
HP:0025323	Abnormal arterial physiology	162417	NAGS	ORPHA:927
HP:0025323	Abnormal arterial physiology	4625	MYH7	ORPHA:1880
HP:0025323	Abnormal arterial physiology	6804	STX1A	ORPHA:904
HP:0025323	Abnormal arterial physiology	7461	CLIP2	ORPHA:904
HP:0025323	Abnormal arterial physiology	84277	DNAJC30	ORPHA:904
HP:0025323	Abnormal arterial physiology	8468	FKBP6	ORPHA:904
HP:0025323	Abnormal arterial physiology	5982	RFC2	ORPHA:904
HP:0025323	Abnormal arterial physiology	2969	GTF2I	ORPHA:904
HP:0025323	Abnormal arterial physiology	3984	LIMK1	ORPHA:904
HP:0025323	Abnormal arterial physiology	9569	GTF2IRD1	ORPHA:904
HP:0025323	Abnormal arterial physiology	155382	VPS37D	ORPHA:904
HP:0025323	Abnormal arterial physiology	155368	METTL27	ORPHA:904
HP:0025323	Abnormal arterial physiology	114049	BUD23	ORPHA:904
HP:0025323	Abnormal arterial physiology	7458	EIF4H	ORPHA:904
HP:0025323	Abnormal arterial physiology	84163	GTF2IRD2	ORPHA:904
HP:0025323	Abnormal arterial physiology	9275	BCL7B	ORPHA:904
HP:0025323	Abnormal arterial physiology	26608	TBL2	ORPHA:904
HP:0025323	Abnormal arterial physiology	653361	NCF1	ORPHA:904
HP:0025323	Abnormal arterial physiology	135886	TMEM270	ORPHA:904
HP:0025323	Abnormal arterial physiology	51085	MLXIPL	ORPHA:904
HP:0025323	Abnormal arterial physiology	9031	BAZ1B	ORPHA:904
HP:0025323	Abnormal arterial physiology	6340	SCNN1G	ORPHA:526
HP:0025323	Abnormal arterial physiology	6338	SCNN1B	ORPHA:526
HP:0025323	Abnormal arterial physiology	6337	SCNN1A	ORPHA:526
HP:0025323	Abnormal arterial physiology	3593	IL12B	ORPHA:3287
HP:0025323	Abnormal arterial physiology	6945	MLX	ORPHA:3287
HP:0025323	Abnormal arterial physiology	1493	CTLA4	ORPHA:900
HP:0025323	Abnormal arterial physiology	3115	HLA-DPB1	ORPHA:900
HP:0025323	Abnormal arterial physiology	5657	PRTN3	ORPHA:900
HP:0025323	Abnormal arterial physiology	3113	HLA-DPA1	ORPHA:900
HP:0025323	Abnormal arterial physiology	8517	IKBKG	ORPHA:464
HP:0025323	Abnormal arterial physiology	351	APP	OMIM:605714
HP:0025323	Abnormal arterial physiology	2050	EPHB4	ORPHA:137667
HP:0025323	Abnormal arterial physiology	149233	IL23R	ORPHA:117
HP:0025323	Abnormal arterial physiology	6775	STAT4	ORPHA:117
HP:0025323	Abnormal arterial physiology	3586	IL10	ORPHA:117
HP:0025323	Abnormal arterial physiology	4210	MEFV	ORPHA:117
HP:0025323	Abnormal arterial physiology	1230	CCR1	ORPHA:117
HP:0025323	Abnormal arterial physiology	355	FAS	ORPHA:117
HP:0025323	Abnormal arterial physiology	3592	IL12A	ORPHA:117
HP:0025323	Abnormal arterial physiology	101928376	IL12A-AS1	ORPHA:117
HP:0025323	Abnormal arterial physiology	7099	TLR4	ORPHA:117
HP:0025323	Abnormal arterial physiology	3459	IFNGR1	ORPHA:117
HP:0025323	Abnormal arterial physiology	720	C4A	ORPHA:117
HP:0025323	Abnormal arterial physiology	337867	UBAC2	ORPHA:117
HP:0025323	Abnormal arterial physiology	51752	ERAP1	ORPHA:117
HP:0025323	Abnormal arterial physiology	8302	KLRC4	ORPHA:117
HP:0025323	Abnormal arterial physiology	1499	CTNNB1	ORPHA:54595
HP:0025323	Abnormal arterial physiology	673	BRAF	ORPHA:54595
HP:0025323	Abnormal arterial physiology	54790	TET2	ORPHA:729
HP:0025323	Abnormal arterial physiology	1281	COL3A1	OMIM:130050
HP:0025323	Abnormal arterial physiology	1277	COL1A1	ORPHA:287
HP:0025323	Abnormal arterial physiology	1277	COL1A1	OMIM:619115
HP:0025323	Abnormal arterial physiology	1289	COL5A1	ORPHA:287
HP:0025323	Abnormal arterial physiology	1290	COL5A2	ORPHA:287
HP:0025323	Abnormal arterial physiology	5351	PLOD1	OMIM:225400
HP:0025323	Abnormal arterial physiology	5351	PLOD1	ORPHA:1900
HP:0025323	Abnormal arterial physiology	1278	COL1A2	OMIM:619120
HP:0025323	Abnormal arterial physiology	55033	FKBP14	ORPHA:300179
HP:0025323	Abnormal arterial physiology	8985	PLOD3	OMIM:612394
HP:0025323	Abnormal arterial physiology	189	AGXT	OMIM:259900
HP:0025323	Abnormal arterial physiology	462	SERPINC1	OMIM:613118
HP:0025323	Abnormal arterial physiology	4907	NT5E	ORPHA:289601
HP:0025323	Abnormal arterial physiology	7840	ALMS1	ORPHA:64
HP:0025323	Abnormal arterial physiology	54	ACP5	OMIM:607944
HP:0025323	Abnormal arterial physiology	54	ACP5	ORPHA:1855
HP:0025323	Abnormal arterial physiology	54941	RNF125	OMIM:616260
HP:0025323	Abnormal arterial physiology	3930	LBR	OMIM:613471
HP:0025323	Abnormal arterial physiology	11277	TREX1	OMIM:192315
HP:0025323	Abnormal arterial physiology	11277	TREX1	OMIM:610448
HP:0025323	Abnormal arterial physiology	11277	TREX1	ORPHA:247691
HP:0025323	Abnormal arterial physiology	11277	TREX1	ORPHA:51
HP:0025323	Abnormal arterial physiology	340061	STING1	OMIM:615934
HP:0025323	Abnormal arterial physiology	27235	COQ2	ORPHA:227510
HP:0025323	Abnormal arterial physiology	27235	COQ2	ORPHA:98933
HP:0025323	Abnormal arterial physiology	6696	SPP1	ORPHA:93552
HP:0025323	Abnormal arterial physiology	3654	IRAK1	ORPHA:93552
HP:0025323	Abnormal arterial physiology	3265	HRAS	ORPHA:2874
HP:0025323	Abnormal arterial physiology	51284	TLR7	OMIM:301080
HP:0025323	Abnormal arterial physiology	4000	LMNA	ORPHA:740
HP:0025323	Abnormal arterial physiology	10269	ZMPSTE24	ORPHA:740
HP:0025323	Abnormal arterial physiology	10535	RNASEH2A	ORPHA:51
HP:0025323	Abnormal arterial physiology	84153	RNASEH2C	ORPHA:51
HP:0025323	Abnormal arterial physiology	25939	SAMHD1	ORPHA:51
HP:0025323	Abnormal arterial physiology	79621	RNASEH2B	ORPHA:51
HP:0025323	Abnormal arterial physiology	103	ADAR	ORPHA:51
HP:0025323	Abnormal arterial physiology	100147744	RNU7-1	ORPHA:51
HP:0025323	Abnormal arterial physiology	134353	LSM11	ORPHA:51
HP:0025323	Abnormal arterial physiology	64135	IFIH1	ORPHA:51
HP:0025323	Abnormal arterial physiology	1188	CLCNKB	ORPHA:358
HP:0025323	Abnormal arterial physiology	6559	SLC12A3	ORPHA:358
HP:0025323	Abnormal arterial physiology	5654	HTRA1	OMIM:600142
HP:0025323	Abnormal arterial physiology	5654	HTRA1	OMIM:616779
HP:0025323	Abnormal arterial physiology	79709	COLGALT1	OMIM:618360
HP:0025323	Abnormal arterial physiology	4668	NAGA	OMIM:609242
HP:0025323	Abnormal arterial physiology	5286	PIK3C2A	OMIM:618440
HP:0025323	Abnormal arterial physiology	64131	XYLT1	OMIM:264800
HP:0025323	Abnormal arterial physiology	64132	XYLT2	OMIM:264800
HP:0025323	Abnormal arterial physiology	368	ABCC6	OMIM:264800
HP:0025323	Abnormal arterial physiology	368	ABCC6	ORPHA:51608
HP:0025323	Abnormal arterial physiology	5167	ENPP1	ORPHA:51608
HP:0025323	Abnormal arterial physiology	5921	RASA1	ORPHA:90307
HP:0025324	Arterial occlusion	189	AGXT	OMIM:259900
HP:0025324	Arterial occlusion	462	SERPINC1	OMIM:613118
HP:0025324	Arterial occlusion	4907	NT5E	ORPHA:289601
HP:0025325	Sparse medial eyebrow	23511	NUP188	OMIM:618804
HP:0025325	Sparse medial eyebrow	7994	KAT6A	OMIM:616268
HP:0025325	Sparse medial eyebrow	6595	SMARCA2	OMIM:601358
HP:0025325	Sparse medial eyebrow	6925	TCF4	OMIM:610954
HP:0025325	Sparse medial eyebrow	6477	SIAH1	OMIM:619314
HP:0025326	Retinal arterial occlusion	2202	EFEMP1	ORPHA:98977
HP:0025326	Retinal arterial occlusion	1545	CYP1B1	ORPHA:98977
HP:0025326	Retinal arterial occlusion	4653	MYOC	ORPHA:98977
HP:0025328	Antepartum hemorrhage	2159	F10	ORPHA:328
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	3767	KCNJ11	OMIM:610582
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	3767	KCNJ11	OMIM:616329
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	50943	FOXP3	OMIM:304790
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	83737	ITCH	ORPHA:228426
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	1854	DUT	OMIM:620044
HP:0009693	Pseudoepiphysis of the thumb	3756	KCNH1	OMIM:611816
HP:0009695	Stippling of thumb epiphysis	8200	GDF5	ORPHA:93384
HP:0009695	Stippling of thumb epiphysis	658	BMPR1B	ORPHA:93384
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	25942	SIN3A	OMIM:613406
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	4010	LMX1B	ORPHA:2614
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	26092	TOR1AIP1	OMIM:617072
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6662	SOX9	OMIM:114290
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3425	IDUA	OMIM:607015
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	4297	KMT2A	OMIM:605130
HP:0025330	Downgaze palsy	51604	PIGT	ORPHA:369837
HP:0025331	Upgaze palsy	2512	FTL	ORPHA:157846
HP:0025331	Upgaze palsy	91754	NEK9	OMIM:614262
HP:0025331	Upgaze palsy	23287	AGTPBP1	OMIM:618276
HP:0025331	Upgaze palsy	10157	AASS	ORPHA:2203
HP:0025331	Upgaze palsy	23230	VPS13A	ORPHA:2388
HP:0025331	Upgaze palsy	3748	KCNC3	ORPHA:98768
HP:0025331	Upgaze palsy	8398	PLA2G6	ORPHA:35069
HP:0025331	Upgaze palsy	1737	DLAT	ORPHA:79244
HP:0025331	Upgaze palsy	5428	POLG	ORPHA:70595
HP:0025331	Upgaze palsy	56652	TWNK	ORPHA:70595
HP:0025331	Upgaze palsy	23400	ATP13A2	ORPHA:314632
HP:0025331	Upgaze palsy	6310	ATXN1	ORPHA:98755
HP:0025335	Delayed ability to stand	1303	COL12A1	ORPHA:536516
HP:0025335	Delayed ability to stand	4359	MPZ	OMIM:618184
HP:0025335	Delayed ability to stand	7840	ALMS1	ORPHA:64
HP:0025335	Delayed ability to stand	7809	BSND	ORPHA:89938
HP:0025335	Delayed ability to stand	1188	CLCNKB	ORPHA:89938
HP:0025335	Delayed ability to stand	1187	CLCNKA	ORPHA:89938
HP:0025335	Delayed ability to stand	54344	DPM3	OMIM:618992
HP:0025335	Delayed ability to stand	5251	PHEX	ORPHA:89936
HP:0025335	Delayed ability to stand	6390	SDHB	OMIM:619224
HP:0025335	Delayed ability to stand	57498	KIDINS220	OMIM:617296
HP:0025335	Delayed ability to stand	2548	GAA	ORPHA:308552
HP:0025335	Delayed ability to stand	91875	TTC5	OMIM:619244
HP:0025335	Delayed ability to stand	6326	SCN2A	OMIM:618924
HP:0025335	Delayed ability to stand	55628	ZNF407	OMIM:619557
HP:0025335	Delayed ability to stand	3708	ITPR1	OMIM:206700
HP:0025335	Delayed ability to stand	22845	DOLK	ORPHA:91131
HP:0025335	Delayed ability to stand	1737	DLAT	ORPHA:79244
HP:0025336	Delayed ability to sit	2137	EXTL3	ORPHA:508533
HP:0025336	Delayed ability to sit	7840	ALMS1	ORPHA:64
HP:0025336	Delayed ability to sit	1281	COL3A1	OMIM:618343
HP:0025336	Delayed ability to sit	1499	CTNNB1	OMIM:615075
HP:0025336	Delayed ability to sit	339983	NAT8L	OMIM:614063
HP:0025336	Delayed ability to sit	340533	NEXMIF	OMIM:300912
HP:0025336	Delayed ability to sit	56896	DPYSL5	OMIM:619435
HP:0025336	Delayed ability to sit	1144	CHRND	OMIM:616321
HP:0025336	Delayed ability to sit	51728	POLR3K	OMIM:619310
HP:0025336	Delayed ability to sit	7204	TRIO	OMIM:618825
HP:0025336	Delayed ability to sit	64116	SLC39A8	OMIM:616721
HP:0025336	Delayed ability to sit	2290	FOXG1	OMIM:613454
HP:0025336	Delayed ability to sit	8573	CASK	OMIM:300749
HP:0025336	Delayed ability to sit	8452	CUL3	OMIM:619239
HP:0025336	Delayed ability to sit	7701	ZNF142	OMIM:618425
HP:0025336	Delayed ability to sit	3098	HK1	OMIM:618547
HP:0025336	Delayed ability to sit	4191	MDH2	OMIM:617339
HP:0025336	Delayed ability to sit	56623	INPP5E	OMIM:213300
HP:0025336	Delayed ability to sit	5354	PLP1	ORPHA:280219
HP:0025336	Delayed ability to sit	22859	ADGRL1	OMIM:620065
HP:0025336	Delayed ability to sit	8936	WASF1	OMIM:618707
HP:0025336	Delayed ability to sit	1605	DAG1	ORPHA:370997
HP:0025336	Delayed ability to sit	111	ADCY5	OMIM:606703
HP:0025336	Delayed ability to sit	111	ADCY5	OMIM:619651
HP:0025336	Delayed ability to sit	4983	OPHN1	OMIM:300486
HP:0025336	Delayed ability to sit	80232	WDR26	ORPHA:513456
HP:0025336	Delayed ability to sit	3020	H3-3A	OMIM:619720
HP:0025336	Delayed ability to sit	2548	GAA	ORPHA:308552
HP:0025336	Delayed ability to sit	6651	SON	OMIM:617140
HP:0025336	Delayed ability to sit	10659	CELF2	OMIM:619561
HP:0025336	Delayed ability to sit	7358	UGDH	OMIM:618792
HP:0025336	Delayed ability to sit	91875	TTC5	OMIM:619244
HP:0025336	Delayed ability to sit	2904	GRIN2B	OMIM:616139
HP:0025336	Delayed ability to sit	2902	GRIN1	OMIM:617820
HP:0025336	Delayed ability to sit	80055	PGAP1	OMIM:615802
HP:0025336	Delayed ability to sit	3097	HIVEP2	OMIM:616977
HP:0025336	Delayed ability to sit	5010	CLDN11	OMIM:619328
HP:0025336	Delayed ability to sit	28960	DCPS	OMIM:616459
HP:0025336	Delayed ability to sit	25782	RAB3GAP2	OMIM:212720
HP:0025336	Delayed ability to sit	55768	NGLY1	ORPHA:404454
HP:0025336	Delayed ability to sit	64221	ROBO3	OMIM:607313
HP:0025336	Delayed ability to sit	9215	LARGE1	OMIM:608840
HP:0025336	Delayed ability to sit	84679	SLC9A7	OMIM:301024
HP:0025336	Delayed ability to sit	5934	RBL2	OMIM:619690
HP:0025336	Delayed ability to sit	23387	SIK3	OMIM:618162
HP:0025336	Delayed ability to sit	55777	MBD5	OMIM:156200
HP:0025336	Delayed ability to sit	4677	NARS1	OMIM:619091
HP:0025336	Delayed ability to sit	4677	NARS1	OMIM:619092
HP:0025336	Delayed ability to sit	4204	MECP2	OMIM:300055
HP:0025336	Delayed ability to sit	4204	MECP2	OMIM:300260
HP:0025336	Delayed ability to sit	57020	VPS35L	OMIM:619135
HP:0025336	Delayed ability to sit	129685	TAF8	OMIM:619972
HP:0025336	Delayed ability to sit	6843	VAMP1	OMIM:618323
HP:0025336	Delayed ability to sit	2590	GALNT2	OMIM:618885
HP:0025336	Delayed ability to sit	6571	SLC18A2	OMIM:618049
HP:0025336	Delayed ability to sit	8120	AP3B2	OMIM:617276
HP:0025336	Delayed ability to sit	738	VPS51	OMIM:618606
HP:0025336	Delayed ability to sit	10381	TUBB3	ORPHA:300570
HP:0025336	Delayed ability to sit	7994	KAT6A	OMIM:616268
HP:0025336	Delayed ability to sit	23499	MACF1	OMIM:618325
HP:0025336	Delayed ability to sit	2770	GNAI1	OMIM:619854
HP:0025336	Delayed ability to sit	5430	POLR2A	OMIM:618603
HP:0025336	Delayed ability to sit	5048	PAFAH1B1	ORPHA:95232
HP:0025336	Delayed ability to sit	1487	CTBP1	OMIM:617915
HP:0025336	Delayed ability to sit	51608	GET4	OMIM:620200
HP:0025336	Delayed ability to sit	2898	GRIK2	OMIM:619580
HP:0025336	Delayed ability to sit	6390	SDHB	OMIM:619224
HP:0025336	Delayed ability to sit	54903	MKS1	OMIM:249000
HP:0025336	Delayed ability to sit	8621	CDK13	OMIM:617360
HP:0025336	Delayed ability to sit	8665	EIF3F	OMIM:618295
HP:0025336	Delayed ability to sit	57231	SNX14	OMIM:616354
HP:0025336	Delayed ability to sit	4761	NEUROD2	OMIM:618374
HP:0025336	Delayed ability to sit	5833	PCYT2	OMIM:618770
HP:0025336	Delayed ability to sit	1140	CHRNB1	OMIM:616313
HP:0025336	Delayed ability to sit	4208	MEF2C	OMIM:613443
HP:0025336	Delayed ability to sit	6304	SATB1	OMIM:619229
HP:0025336	Delayed ability to sit	81603	TRIM8	OMIM:619428
HP:0025336	Delayed ability to sit	284439	SLC25A42	OMIM:618416
HP:0025336	Delayed ability to sit	27245	AHDC1	OMIM:615829
HP:0025337	Red eye	10804	GJB6	ORPHA:477
HP:0025337	Red eye	10804	GJB6	OMIM:129500
HP:0025337	Red eye	2706	GJB2	ORPHA:477
HP:0025337	Red eye	695	BTK	OMIM:300755
HP:0025337	Red eye	695	BTK	ORPHA:47
HP:0025337	Red eye	695	BTK	OMIM:307200
HP:0025337	Red eye	930	CD19	OMIM:613493
HP:0025337	Red eye	930	CD19	OMIM:240500
HP:0025337	Red eye	1643	DDB2	OMIM:278740
HP:0025337	Red eye	987	LRBA	OMIM:614700
HP:0025337	Red eye	7454	WAS	ORPHA:906
HP:0025337	Red eye	7456	WIPF1	ORPHA:906
HP:0025337	Red eye	1736	DKC1	OMIM:305000
HP:0025337	Red eye	1776	DNASE1L3	ORPHA:36412
HP:0025337	Red eye	2778	GNAS	ORPHA:94089
HP:0025337	Red eye	2778	GNAS	ORPHA:79443
HP:0025337	Red eye	2778	GNAS	ORPHA:79444
HP:0025337	Red eye	8675	STX16	ORPHA:94089
HP:0025337	Red eye	7507	XPA	OMIM:278700
HP:0025337	Red eye	1161	ERCC8	ORPHA:90321
HP:0025337	Red eye	1161	ERCC8	ORPHA:90322
HP:0025337	Red eye	2072	ERCC4	ORPHA:90321
HP:0025337	Red eye	2074	ERCC6	ORPHA:90321
HP:0025337	Red eye	2074	ERCC6	ORPHA:90322
HP:0025337	Red eye	2074	ERCC6	OMIM:278800
HP:0025337	Red eye	79650	USB1	OMIM:604173
HP:0025337	Red eye	2067	ERCC1	ORPHA:90322
HP:0025337	Red eye	3507	IGHM	OMIM:601495
HP:0025337	Red eye	3507	IGHM	ORPHA:33110
HP:0025337	Red eye	55630	SLC39A4	ORPHA:37
HP:0025337	Red eye	8676	STX11	OMIM:603552
HP:0025337	Red eye	51360	MBTPS2	OMIM:308800
HP:0025337	Red eye	51360	MBTPS2	ORPHA:2273
HP:0025337	Red eye	5896	RAG1	OMIM:601457
HP:0025337	Red eye	5897	RAG2	OMIM:601457
HP:0025337	Red eye	3106	HLA-B	ORPHA:29207
HP:0025337	Red eye	3106	HLA-B	ORPHA:36426
HP:0025337	Red eye	1294	COL7A1	OMIM:226600
HP:0025337	Red eye	4312	MMP1	OMIM:226600
HP:0025337	Red eye	162	AP1B1	OMIM:242150
HP:0025337	Red eye	5075	PAX1	OMIM:615560
HP:0025337	Red eye	974	CD79B	OMIM:612692
HP:0025337	Red eye	974	CD79B	ORPHA:33110
HP:0025337	Red eye	5429	POLH	OMIM:278750
HP:0025337	Red eye	5340	PLG	OMIM:217090
HP:0025337	Red eye	7086	TKT	ORPHA:488618
HP:0025337	Red eye	29851	ICOS	OMIM:607594
HP:0025337	Red eye	29851	ICOS	OMIM:240500
HP:0025337	Red eye	65082	VPS33A	ORPHA:505248
HP:0025337	Red eye	10320	IKZF1	ORPHA:36426
HP:0025337	Red eye	23495	TNFRSF13B	OMIM:240500
HP:0025337	Red eye	115650	TNFRSF13C	OMIM:240500
HP:0025337	Red eye	1380	CR2	OMIM:240500
HP:0025337	Red eye	55612	FERMT1	ORPHA:2908
HP:0025337	Red eye	5692	PSMB4	OMIM:617591
HP:0025337	Red eye	5698	PSMB9	OMIM:617591
HP:0025337	Red eye	7037	TFRC	OMIM:616740
HP:0025337	Red eye	7994	KAT6A	OMIM:616268
HP:0025337	Red eye	686	BTD	OMIM:253260
HP:0025337	Red eye	686	BTD	ORPHA:79241
HP:0025337	Red eye	2077	ERF	ORPHA:207
HP:0025337	Red eye	404672	GTF2H5	ORPHA:33364
HP:0025337	Red eye	833	CARS1	ORPHA:33364
HP:0025337	Red eye	2068	ERCC2	ORPHA:33364
HP:0025337	Red eye	2068	ERCC2	OMIM:278730
HP:0025337	Red eye	7737	RNF113A	ORPHA:33364
HP:0025337	Red eye	136647	MPLKIP	ORPHA:33364
HP:0025337	Red eye	6897	TARS1	ORPHA:33364
HP:0025337	Red eye	2071	ERCC3	ORPHA:33364
HP:0025337	Red eye	2961	GTF2E2	ORPHA:33364
HP:0025337	Red eye	2303	FOXC2	ORPHA:33001
HP:0025337	Red eye	2303	FOXC2	OMIM:153400
HP:0025337	Red eye	7508	XPC	OMIM:278720
HP:0025337	Red eye	54809	SAMD9	OMIM:610455
HP:0025337	Red eye	5696	PSMB8	OMIM:256040
HP:0025337	Red eye	3321	IGSF3	OMIM:149700
HP:0025337	Red eye	6929	TCF3	ORPHA:33110
HP:0025337	Red eye	973	CD79A	ORPHA:33110
HP:0025337	Red eye	3543	IGLL1	ORPHA:33110
HP:0025337	Red eye	29760	BLNK	ORPHA:33110
HP:0025337	Red eye	5295	PIK3R1	ORPHA:33110
HP:0025337	Red eye	56262	LRRC8A	ORPHA:33110
HP:0025337	Red eye	6720	SREBF1	OMIM:158310
HP:0025337	Red eye	2263	FGFR2	ORPHA:2363
HP:0025337	Red eye	2261	FGFR3	ORPHA:2363
HP:0025337	Red eye	2255	FGF10	ORPHA:2363
HP:0025337	Red eye	3141	HLCS	ORPHA:79242
HP:0025337	Red eye	7390	UROS	ORPHA:79277
HP:0025337	Red eye	2623	GATA1	ORPHA:79277
HP:0025337	Red eye	326	AIRE	OMIM:240300
HP:0025337	Red eye	7389	UROD	ORPHA:95159
HP:0025337	Red eye	6335	SCN9A	OMIM:133020
HP:0025337	Red eye	54941	RNF125	OMIM:616260
HP:0025337	Red eye	55699	IARS2	OMIM:616007
HP:0025337	Red eye	1308	COL17A1	ORPHA:293381
HP:0025337	Red eye	4547	MTTP	ORPHA:14
HP:0025337	Red eye	2934	GSN	ORPHA:85448
HP:0025337	Red eye	22861	NLRP1	OMIM:617388
HP:0025337	Red eye	64127	NOD2	OMIM:617321
HP:0025337	Red eye	4081	MAB21L1	OMIM:618479
HP:0025337	Red eye	3930	LBR	ORPHA:779
HP:0025337	Red eye	2200	FBN1	OMIM:616914
HP:0025337	Red eye	165	AEBP1	ORPHA:536532
HP:0025337	Red eye	56244	BTNL2	ORPHA:797
HP:0025337	Red eye	3123	HLA-DRB1	ORPHA:797
HP:0025337	Red eye	149233	IL23R	ORPHA:117
HP:0025337	Red eye	6775	STAT4	ORPHA:117
HP:0025337	Red eye	3586	IL10	ORPHA:117
HP:0025337	Red eye	4210	MEFV	ORPHA:117
HP:0025337	Red eye	1230	CCR1	ORPHA:117
HP:0025337	Red eye	355	FAS	ORPHA:117
HP:0025337	Red eye	3592	IL12A	ORPHA:117
HP:0025337	Red eye	101928376	IL12A-AS1	ORPHA:117
HP:0025337	Red eye	7099	TLR4	ORPHA:117
HP:0025337	Red eye	3459	IFNGR1	ORPHA:117
HP:0025337	Red eye	720	C4A	ORPHA:117
HP:0025337	Red eye	337867	UBAC2	ORPHA:117
HP:0025337	Red eye	51752	ERAP1	ORPHA:117
HP:0025337	Red eye	8302	KLRC4	ORPHA:117
HP:0025337	Red eye	8626	TP63	ORPHA:69085
HP:0025337	Red eye	7045	TGFBI	ORPHA:98964
HP:0025337	Red eye	6472	SHMT2	OMIM:619121
HP:0025337	Red eye	4137	MAPT	ORPHA:240071
HP:0025337	Red eye	114548	NLRP3	OMIM:191900
HP:0025337	Red eye	114548	NLRP3	OMIM:148200
HP:0025337	Red eye	7132	TNFRSF1A	OMIM:142680
HP:0025337	Red eye	164	AP1G1	OMIM:619548
HP:0025343	Lupus anticoagulant	7128	TNFAIP3	OMIM:616744
HP:0025343	Lupus anticoagulant	51816	ADA2	OMIM:615688
HP:0025343	Lupus anticoagulant	6775	STAT4	ORPHA:93552
HP:0025343	Lupus anticoagulant	6696	SPP1	ORPHA:93552
HP:0025343	Lupus anticoagulant	3654	IRAK1	ORPHA:93552
HP:0025345	Abnormality of circulating beta-2-microglobulin level	5994	RFXAP	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	4261	CIITA	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	5993	RFX5	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	8625	RFXANK	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	567	B2M	OMIM:241600
HP:0025347	Decreased circulating beta-2-microglobulin level	5994	RFXAP	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	4261	CIITA	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	5993	RFX5	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	8625	RFXANK	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	567	B2M	OMIM:241600
HP:0025348	Abnormal corneal limbus morphology	5080	PAX6	ORPHA:2334
HP:0025348	Abnormal corneal limbus morphology	5308	PITX2	OMIM:180550
HP:0025348	Abnormal corneal limbus morphology	710	SERPING1	ORPHA:100050
HP:0025349	Limbal edema	710	SERPING1	ORPHA:100050
HP:0025352	Typically de novo	5296	PIK3R2	OMIM:603387
HP:0025352	Typically de novo	23250	ATP11A	OMIM:619851
HP:0025352	Typically de novo	5594	MAPK1	OMIM:619087
HP:0025352	Typically de novo	1822	ATN1	OMIM:618494
HP:0025352	Typically de novo	57680	CHD8	OMIM:615032
HP:0025352	Typically de novo	10501	SEMA6B	OMIM:618876
HP:0025352	Typically de novo	2783	GNB2	OMIM:619503
HP:0025352	Typically de novo	58508	KMT2C	OMIM:617768
HP:0025352	Typically de novo	27102	EIF2AK1	OMIM:618878
HP:0025352	Typically de novo	5290	PIK3CA	OMIM:619538
HP:0025352	Typically de novo	5430	POLR2A	OMIM:618603
HP:0025352	Typically de novo	51341	ZBTB7A	OMIM:619769
HP:0025354	Abnormal cellular phenotype	83737	ITCH	OMIM:613385
HP:0025354	Abnormal cellular phenotype	3117	HLA-DQA1	OMIM:212750
HP:0025354	Abnormal cellular phenotype	3119	HLA-DQB1	OMIM:212750
HP:0025354	Abnormal cellular phenotype	2475	MTOR	ORPHA:457485
HP:0025354	Abnormal cellular phenotype	2475	MTOR	OMIM:616638
HP:0025354	Abnormal cellular phenotype	284119	CAVIN1	OMIM:613327
HP:0025354	Abnormal cellular phenotype	51604	PIGT	ORPHA:369837
HP:0025354	Abnormal cellular phenotype	5336	PLCG2	OMIM:614878
HP:0025354	Abnormal cellular phenotype	28956	LAMTOR2	OMIM:610798
HP:0025354	Abnormal cellular phenotype	23387	SIK3	OMIM:618162
HP:0025354	Abnormal cellular phenotype	5426	POLE	OMIM:615139
HP:0025354	Abnormal cellular phenotype	140732	SUN5	ORPHA:529970
HP:0025354	Abnormal cellular phenotype	83449	PMFBP1	ORPHA:529970
HP:0025354	Abnormal cellular phenotype	4204	MECP2	ORPHA:1762
HP:0025354	Abnormal cellular phenotype	6469	SHH	OMIM:147250
HP:0025354	Abnormal cellular phenotype	3930	LBR	OMIM:169400
HP:0025354	Abnormal cellular phenotype	2697	GJA1	ORPHA:2248
HP:0025354	Abnormal cellular phenotype	1482	NKX2-5	ORPHA:2248
HP:0025354	Abnormal cellular phenotype	10743	RAI1	ORPHA:1713
HP:0025354	Abnormal cellular phenotype	6389	SDHA	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	80704	SLC19A3	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	91942	NDUFAF2	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	6834	SURF1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4723	NDUFV1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	55572	FOXRED1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4729	NDUFV2	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	55967	NDUFA12	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	51204	TACO1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4720	NDUFS2	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4724	NDUFS4	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4728	NDUFS8	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4722	NDUFS3	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	79133	NDUFAF5	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	5160	PDHA1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	5160	PDHA1	OMIM:312170
HP:0025354	Abnormal cellular phenotype	100131801	PET100	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	1355	COX15	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	1892	ECHS1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	1892	ECHS1	OMIM:616277
HP:0025354	Abnormal cellular phenotype	123263	MTFMT	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	51079	NDUFA13	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	374291	NDUFS7	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4705	NDUFA10	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	51601	LIPT1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4719	NDUFS1	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4697	NDUFA4	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	4704	NDUFA9	ORPHA:255241
HP:0025354	Abnormal cellular phenotype	1737	DLAT	OMIM:245348
HP:0025354	Abnormal cellular phenotype	51218	GLRX5	ORPHA:401866
HP:0025354	Abnormal cellular phenotype	51218	GLRX5	OMIM:616859
HP:0025354	Abnormal cellular phenotype	8050	PDHX	OMIM:245349
HP:0025354	Abnormal cellular phenotype	8050	PDHX	ORPHA:255182
HP:0025354	Abnormal cellular phenotype	5162	PDHB	ORPHA:255138
HP:0025354	Abnormal cellular phenotype	11019	LIAS	OMIM:614462
HP:0025354	Abnormal cellular phenotype	388962	BOLA3	OMIM:614299
HP:0025354	Abnormal cellular phenotype	64116	SLC39A8	ORPHA:468699
HP:0025354	Abnormal cellular phenotype	54704	PDP1	OMIM:608782
HP:0025354	Abnormal cellular phenotype	54704	PDP1	ORPHA:79246
HP:0025354	Abnormal cellular phenotype	5873	RAB27A	OMIM:607624
HP:0025354	Abnormal cellular phenotype	1643	DDB2	OMIM:278740
HP:0025354	Abnormal cellular phenotype	2073	ERCC5	OMIM:278780
HP:0025354	Abnormal cellular phenotype	404672	GTF2H5	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	833	CARS1	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	136647	MPLKIP	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	6897	TARS1	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	2961	GTF2E2	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	7508	XPC	OMIM:278720
HP:0025354	Abnormal cellular phenotype	7507	XPA	OMIM:278700
HP:0025354	Abnormal cellular phenotype	6499	SKIC2	ORPHA:84064
HP:0025354	Abnormal cellular phenotype	4982	TNFRSF11B	OMIM:239000
HP:0025354	Abnormal cellular phenotype	4041	LRP5	OMIM:607634
HP:0025354	Abnormal cellular phenotype	4952	OCRL	OMIM:309000
HP:0025354	Abnormal cellular phenotype	760	CA2	OMIM:259730
HP:0025354	Abnormal cellular phenotype	760	CA2	ORPHA:2785
HP:0025354	Abnormal cellular phenotype	1186	CLCN7	OMIM:166600
HP:0025354	Abnormal cellular phenotype	5660	PSAP	OMIM:610539
HP:0025354	Abnormal cellular phenotype	1200	TPP1	OMIM:204500
HP:0025354	Abnormal cellular phenotype	1201	CLN3	OMIM:204200
HP:0025354	Abnormal cellular phenotype	2055	CLN8	OMIM:600143
HP:0025354	Abnormal cellular phenotype	2055	CLN8	ORPHA:1947
HP:0025354	Abnormal cellular phenotype	154881	KCTD7	OMIM:611726
HP:0025354	Abnormal cellular phenotype	64170	CARD9	OMIM:212050
HP:0025354	Abnormal cellular phenotype	7454	WAS	OMIM:301000
HP:0025354	Abnormal cellular phenotype	7454	WAS	OMIM:313900
HP:0025354	Abnormal cellular phenotype	1041	CDSN	ORPHA:90368
HP:0025354	Abnormal cellular phenotype	1041	CDSN	OMIM:270300
HP:0025354	Abnormal cellular phenotype	121391	KRT74	ORPHA:90368
HP:0025354	Abnormal cellular phenotype	6777	STAT5B	OMIM:618985
HP:0025354	Abnormal cellular phenotype	50943	FOXP3	OMIM:304790
HP:0025354	Abnormal cellular phenotype	50943	FOXP3	ORPHA:37042
HP:0025354	Abnormal cellular phenotype	3857	KRT9	OMIM:144200
HP:0025354	Abnormal cellular phenotype	6774	STAT3	OMIM:147060
HP:0025354	Abnormal cellular phenotype	6774	STAT3	ORPHA:2314
HP:0025354	Abnormal cellular phenotype	7297	TYK2	OMIM:611521
HP:0025354	Abnormal cellular phenotype	51135	IRAK4	OMIM:607676
HP:0025354	Abnormal cellular phenotype	84905	ZNF341	OMIM:618282
HP:0025354	Abnormal cellular phenotype	2239	GPC4	ORPHA:373
HP:0025354	Abnormal cellular phenotype	2719	GPC3	ORPHA:373
HP:0025354	Abnormal cellular phenotype	7941	PLA2G7	OMIM:147050
HP:0025354	Abnormal cellular phenotype	50615	IL21R	OMIM:147050
HP:0025354	Abnormal cellular phenotype	3566	IL4R	OMIM:147050
HP:0025354	Abnormal cellular phenotype	2206	MS4A2	OMIM:147050
HP:0025354	Abnormal cellular phenotype	1956	EGFR	OMIM:616069
HP:0025354	Abnormal cellular phenotype	84433	CARD11	OMIM:617638
HP:0025354	Abnormal cellular phenotype	6868	ADAM17	OMIM:614328
HP:0025354	Abnormal cellular phenotype	56160	NSMCE3	OMIM:617241
HP:0025354	Abnormal cellular phenotype	1828	DSG1	OMIM:615508
HP:0025354	Abnormal cellular phenotype	3559	IL2RA	OMIM:606367
HP:0025354	Abnormal cellular phenotype	2072	ERCC4	OMIM:278760
HP:0025354	Abnormal cellular phenotype	2177	FANCD2	OMIM:227646
HP:0025354	Abnormal cellular phenotype	2176	FANCC	OMIM:227645
HP:0025354	Abnormal cellular phenotype	2178	FANCE	OMIM:600901
HP:0025354	Abnormal cellular phenotype	2175	FANCA	OMIM:227650
HP:0025354	Abnormal cellular phenotype	26277	TINF2	OMIM:268130
HP:0025354	Abnormal cellular phenotype	2189	FANCG	OMIM:614082
HP:0025354	Abnormal cellular phenotype	2189	FANCG	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2187	FANCB	OMIM:300514
HP:0025354	Abnormal cellular phenotype	2187	FANCB	ORPHA:84
HP:0025354	Abnormal cellular phenotype	7518	XRCC4	ORPHA:99812
HP:0025354	Abnormal cellular phenotype	4683	NBN	ORPHA:647
HP:0025354	Abnormal cellular phenotype	672	BRCA1	ORPHA:84
HP:0025354	Abnormal cellular phenotype	10459	MAD2L2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	7516	XRCC2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	29089	UBE2T	ORPHA:84
HP:0025354	Abnormal cellular phenotype	675	BRCA2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55120	FANCL	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2188	FANCF	ORPHA:84
HP:0025354	Abnormal cellular phenotype	5888	RAD51	ORPHA:84
HP:0025354	Abnormal cellular phenotype	5889	RAD51C	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55159	RFWD3	ORPHA:84
HP:0025354	Abnormal cellular phenotype	83990	BRIP1	ORPHA:84
HP:0025354	Abnormal cellular phenotype	57697	FANCM	ORPHA:84
HP:0025354	Abnormal cellular phenotype	79728	PALB2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	84464	SLX4	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55215	FANCI	ORPHA:84
HP:0025354	Abnormal cellular phenotype	338657	CENATAC	OMIM:620153
HP:0025354	Abnormal cellular phenotype	1327	COX4I1	OMIM:619060
HP:0025354	Abnormal cellular phenotype	64858	DCLRE1B	OMIM:620133
HP:0025354	Abnormal cellular phenotype	1161	ERCC8	OMIM:614621
HP:0025354	Abnormal cellular phenotype	1161	ERCC8	OMIM:216400
HP:0025354	Abnormal cellular phenotype	2074	ERCC6	OMIM:133540
HP:0025354	Abnormal cellular phenotype	2074	ERCC6	OMIM:600630
HP:0025354	Abnormal cellular phenotype	57654	UVSSA	OMIM:614640
HP:0025354	Abnormal cellular phenotype	2071	ERCC3	OMIM:610651
HP:0025354	Abnormal cellular phenotype	1203	CLN5	OMIM:256731
HP:0025354	Abnormal cellular phenotype	54982	CLN6	OMIM:204300
HP:0025354	Abnormal cellular phenotype	80331	DNAJC5	OMIM:162350
HP:0025354	Abnormal cellular phenotype	2395	FXN	OMIM:229300
HP:0025354	Abnormal cellular phenotype	1497	CTNS	OMIM:219800
HP:0025354	Abnormal cellular phenotype	1738	DLD	ORPHA:2394
HP:0025354	Abnormal cellular phenotype	3155	HMGCL	OMIM:246450
HP:0025354	Abnormal cellular phenotype	4556	MT-TE	ORPHA:254864
HP:0025354	Abnormal cellular phenotype	55687	TRMU	ORPHA:254864
HP:0025354	Abnormal cellular phenotype	37	ACADVL	OMIM:201475
HP:0025354	Abnormal cellular phenotype	4695	NDUFA2	OMIM:618235
HP:0025354	Abnormal cellular phenotype	34	ACADM	OMIM:201450
HP:0025354	Abnormal cellular phenotype	1294	COL7A1	ORPHA:89842
HP:0025354	Abnormal cellular phenotype	27034	ACAD8	OMIM:611283
HP:0025354	Abnormal cellular phenotype	27034	ACAD8	ORPHA:79159
HP:0025354	Abnormal cellular phenotype	133686	NADK2	ORPHA:431361
HP:0025354	Abnormal cellular phenotype	3033	HADH	ORPHA:71212
HP:0025354	Abnormal cellular phenotype	28976	ACAD9	ORPHA:99901
HP:0025354	Abnormal cellular phenotype	64087	MCCC2	OMIM:210210
HP:0025354	Abnormal cellular phenotype	788	SLC25A20	ORPHA:159
HP:0025354	Abnormal cellular phenotype	1962	EHHADH	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	2628	GATM	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	137682	NDUFAF6	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	6569	SLC34A1	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	6584	SLC22A5	OMIM:212140
HP:0025354	Abnormal cellular phenotype	3071	NCKAP1L	OMIM:618982
HP:0025354	Abnormal cellular phenotype	595	CCND1	ORPHA:29073
HP:0025354	Abnormal cellular phenotype	29775	CARD10	OMIM:619632
HP:0025354	Abnormal cellular phenotype	51371	POMP	OMIM:618048
HP:0025354	Abnormal cellular phenotype	10526	IPO8	OMIM:619472
HP:0025354	Abnormal cellular phenotype	5238	PGM3	ORPHA:443811
HP:0025354	Abnormal cellular phenotype	5238	PGM3	OMIM:615816
HP:0025354	Abnormal cellular phenotype	340061	STING1	OMIM:615934
HP:0025354	Abnormal cellular phenotype	3575	IL7R	ORPHA:169154
HP:0025354	Abnormal cellular phenotype	81704	DOCK8	OMIM:243700
HP:0025354	Abnormal cellular phenotype	7174	TPP2	OMIM:619220
HP:0025354	Abnormal cellular phenotype	22861	NLRP1	OMIM:617388
HP:0025354	Abnormal cellular phenotype	3560	IL2RB	OMIM:618495
HP:0025354	Abnormal cellular phenotype	3459	IFNGR1	OMIM:209950
HP:0025354	Abnormal cellular phenotype	5696	PSMB8	OMIM:256040
HP:0025354	Abnormal cellular phenotype	79158	GNPTAB	OMIM:252600
HP:0025354	Abnormal cellular phenotype	79158	GNPTAB	OMIM:252500
HP:0025354	Abnormal cellular phenotype	1786	DNMT1	ORPHA:314404
HP:0025354	Abnormal cellular phenotype	26275	HIBCH	ORPHA:88639
HP:0025354	Abnormal cellular phenotype	10483	SEC23B	OMIM:224100
HP:0025354	Abnormal cellular phenotype	146059	CDAN1	OMIM:224120
HP:0025354	Abnormal cellular phenotype	79648	MCPH1	OMIM:251200
HP:0025354	Abnormal cellular phenotype	2859	GPR35	ORPHA:171
HP:0025354	Abnormal cellular phenotype	10507	SEMA4D	ORPHA:171
HP:0025354	Abnormal cellular phenotype	4485	MST1	ORPHA:171
HP:0025354	Abnormal cellular phenotype	6925	TCF4	ORPHA:171
HP:0025354	Abnormal cellular phenotype	200942	KLHDC8B	OMIM:236000
HP:0025354	Abnormal cellular phenotype	90268	OTULIN	OMIM:617099
HP:0025354	Abnormal cellular phenotype	3594	IL12RB1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	23534	TNPO3	ORPHA:186
HP:0025354	Abnormal cellular phenotype	3592	IL12A	ORPHA:186
HP:0025354	Abnormal cellular phenotype	6689	SPIB	ORPHA:186
HP:0025354	Abnormal cellular phenotype	5450	POU2AF1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	9966	TNFSF15	ORPHA:186
HP:0025354	Abnormal cellular phenotype	79258	MMEL1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	3663	IRF5	ORPHA:186
HP:0025354	Abnormal cellular phenotype	1536	CYBB	OMIM:306400
HP:0025354	Abnormal cellular phenotype	1535	CYBA	OMIM:233690
HP:0025354	Abnormal cellular phenotype	2332	FMR1	ORPHA:908
HP:0025354	Abnormal cellular phenotype	2332	FMR1	OMIM:300624
HP:0025354	Abnormal cellular phenotype	84548	TMEM185A	ORPHA:100974
HP:0025354	Abnormal cellular phenotype	6005	RHAG	OMIM:185000
HP:0025354	Abnormal cellular phenotype	6513	SLC2A1	ORPHA:168577
HP:0025354	Abnormal cellular phenotype	157570	ESCO2	OMIM:268300
HP:0025354	Abnormal cellular phenotype	2108	ETFA	OMIM:231680
HP:0025354	Abnormal cellular phenotype	2109	ETFB	OMIM:231680
HP:0025354	Abnormal cellular phenotype	2110	ETFDH	OMIM:231680
HP:0025354	Abnormal cellular phenotype	138050	HGSNAT	OMIM:252930
HP:0025354	Abnormal cellular phenotype	2799	GNS	OMIM:252940
HP:0025354	Abnormal cellular phenotype	10159	ATP6AP2	OMIM:301045
HP:0025354	Abnormal cellular phenotype	83483	PLVAP	OMIM:618183
HP:0025354	Abnormal cellular phenotype	51750	RTEL1	OMIM:615190
HP:0025354	Abnormal cellular phenotype	3551	IKBKB	OMIM:615592
HP:0025354	Abnormal cellular phenotype	5728	PTEN	OMIM:605309
HP:0025354	Abnormal cellular phenotype	5728	PTEN	OMIM:158350
HP:0025354	Abnormal cellular phenotype	8737	RIPK1	OMIM:618108
HP:0025354	Abnormal cellular phenotype	113235	SLC46A1	ORPHA:90045
HP:0025354	Abnormal cellular phenotype	2316	FLNA	ORPHA:99811
HP:0025354	Abnormal cellular phenotype	4522	MTHFD1	OMIM:617780
HP:0025354	Abnormal cellular phenotype	939	CD27	OMIM:615122
HP:0025354	Abnormal cellular phenotype	10525	HYOU1	OMIM:233600
HP:0025354	Abnormal cellular phenotype	4790	NFKB1	OMIM:616576
HP:0025354	Abnormal cellular phenotype	4790	NFKB1	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	114803	MYSM1	OMIM:618116
HP:0025354	Abnormal cellular phenotype	79840	NHEJ1	ORPHA:169079
HP:0025354	Abnormal cellular phenotype	5994	RFXAP	ORPHA:572
HP:0025354	Abnormal cellular phenotype	4261	CIITA	ORPHA:572
HP:0025354	Abnormal cellular phenotype	5993	RFX5	ORPHA:572
HP:0025354	Abnormal cellular phenotype	8625	RFXANK	ORPHA:572
HP:0025354	Abnormal cellular phenotype	6023	RMRP	ORPHA:175
HP:0025354	Abnormal cellular phenotype	7037	TFRC	OMIM:616740
HP:0025354	Abnormal cellular phenotype	4125	MAN2B1	OMIM:248500
HP:0025354	Abnormal cellular phenotype	10111	RAD50	OMIM:613078
HP:0025354	Abnormal cellular phenotype	9839	ZEB2	ORPHA:261552
HP:0025354	Abnormal cellular phenotype	9839	ZEB2	ORPHA:261537
HP:0025354	Abnormal cellular phenotype	4478	MSN	OMIM:300988
HP:0025354	Abnormal cellular phenotype	3070	HELLS	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	3070	HELLS	OMIM:616911
HP:0025354	Abnormal cellular phenotype	1789	DNMT3B	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	83879	CDCA7	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	83879	CDCA7	OMIM:616910
HP:0025354	Abnormal cellular phenotype	10320	IKZF1	OMIM:616873
HP:0025354	Abnormal cellular phenotype	8742	TNFSF12	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	970	CD70	OMIM:618261
HP:0025354	Abnormal cellular phenotype	9056	SLC7A7	ORPHA:470
HP:0025354	Abnormal cellular phenotype	57217	TTC7A	OMIM:243150
HP:0025354	Abnormal cellular phenotype	51095	TRNT1	OMIM:616084
HP:0025354	Abnormal cellular phenotype	9508	ADAMTS3	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	147372	CCBE1	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	79633	FAT4	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	3507	IGHM	OMIM:601495
HP:0025354	Abnormal cellular phenotype	493856	CISD2	OMIM:604928
HP:0025354	Abnormal cellular phenotype	8915	BCL10	OMIM:616098
HP:0025354	Abnormal cellular phenotype	4780	NFE2L2	OMIM:617744
HP:0025354	Abnormal cellular phenotype	51816	ADA2	OMIM:615688
HP:0025354	Abnormal cellular phenotype	6117	RPA1	OMIM:619767
HP:0025354	Abnormal cellular phenotype	10165	SLC25A13	ORPHA:247598
HP:0025354	Abnormal cellular phenotype	50485	SMARCAL1	OMIM:242900
HP:0025354	Abnormal cellular phenotype	4938	OAS1	OMIM:618042
HP:0025354	Abnormal cellular phenotype	7157	TP53	OMIM:618165
HP:0025354	Abnormal cellular phenotype	9652	SKIC3	OMIM:222470
HP:0025354	Abnormal cellular phenotype	27040	LAT	OMIM:617514
HP:0025354	Abnormal cellular phenotype	9939	RBM8A	OMIM:274000
HP:0025354	Abnormal cellular phenotype	1604	CD55	OMIM:226300
HP:0025354	Abnormal cellular phenotype	3852	KRT5	ORPHA:79396
HP:0025354	Abnormal cellular phenotype	3861	KRT14	ORPHA:79396
HP:0025354	Abnormal cellular phenotype	219285	SAMD9L	ORPHA:2585
HP:0025354	Abnormal cellular phenotype	204	AK2	ORPHA:33355
HP:0025354	Abnormal cellular phenotype	2137	EXTL3	ORPHA:508533
HP:0025354	Abnormal cellular phenotype	3561	IL2RG	ORPHA:276
HP:0025354	Abnormal cellular phenotype	3561	IL2RG	OMIM:312863
HP:0025354	Abnormal cellular phenotype	3561	IL2RG	OMIM:300400
HP:0025354	Abnormal cellular phenotype	355	FAS	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	356	FASLG	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	5580	PRKCD	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	843	CASP10	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	10125	RASGRP1	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	10125	RASGRP1	OMIM:618534
HP:0025354	Abnormal cellular phenotype	64421	DCLRE1C	ORPHA:275
HP:0025354	Abnormal cellular phenotype	695	BTK	OMIM:300755
HP:0025354	Abnormal cellular phenotype	10043	TOM1	OMIM:619510
HP:0025354	Abnormal cellular phenotype	3572	IL6ST	OMIM:619752
HP:0025354	Abnormal cellular phenotype	3702	ITK	OMIM:613011
HP:0025354	Abnormal cellular phenotype	115650	TNFRSF13C	OMIM:613494
HP:0025354	Abnormal cellular phenotype	115650	TNFRSF13C	OMIM:240500
HP:0025354	Abnormal cellular phenotype	5295	PIK3R1	OMIM:616005
HP:0025354	Abnormal cellular phenotype	9841	ZBTB24	OMIM:614069
HP:0025354	Abnormal cellular phenotype	5880	RAC2	OMIM:618986
HP:0025354	Abnormal cellular phenotype	5880	RAC2	OMIM:618987
HP:0025354	Abnormal cellular phenotype	3932	LCK	OMIM:615758
HP:0025354	Abnormal cellular phenotype	6948	TCN2	OMIM:275350
HP:0025354	Abnormal cellular phenotype	6948	TCN2	ORPHA:859
HP:0025354	Abnormal cellular phenotype	3570	IL6R	OMIM:618944
HP:0025354	Abnormal cellular phenotype	987	LRBA	OMIM:614700
HP:0025354	Abnormal cellular phenotype	8517	IKBKG	OMIM:301081
HP:0025354	Abnormal cellular phenotype	54440	SASH3	OMIM:301082
HP:0025354	Abnormal cellular phenotype	959	CD40LG	OMIM:308230
HP:0025354	Abnormal cellular phenotype	4796	TONSL	OMIM:271510
HP:0025354	Abnormal cellular phenotype	5293	PIK3CD	OMIM:619281
HP:0025354	Abnormal cellular phenotype	4247	MGAT2	ORPHA:79329
HP:0025354	Abnormal cellular phenotype	7555	CNBP	OMIM:602668
HP:0025354	Abnormal cellular phenotype	1457	CSNK2A1	OMIM:617062
HP:0025354	Abnormal cellular phenotype	57379	AICDA	OMIM:605258
HP:0025354	Abnormal cellular phenotype	374354	NHLRC2	OMIM:618278
HP:0025354	Abnormal cellular phenotype	60468	BACH2	OMIM:618394
HP:0025354	Abnormal cellular phenotype	974	CD79B	OMIM:612692
HP:0025354	Abnormal cellular phenotype	5788	PTPRC	OMIM:619924
HP:0025354	Abnormal cellular phenotype	11005	SPINK5	OMIM:256500
HP:0025354	Abnormal cellular phenotype	641	BLM	OMIM:210900
HP:0025354	Abnormal cellular phenotype	641	BLM	ORPHA:125
HP:0025354	Abnormal cellular phenotype	841	CASP8	OMIM:607271
HP:0025354	Abnormal cellular phenotype	472	ATM	OMIM:208900
HP:0025354	Abnormal cellular phenotype	59067	IL21	OMIM:615767
HP:0025354	Abnormal cellular phenotype	29760	BLNK	OMIM:613502
HP:0025354	Abnormal cellular phenotype	5294	PIK3CG	OMIM:619802
HP:0025354	Abnormal cellular phenotype	7841	MOGS	ORPHA:79330
HP:0025354	Abnormal cellular phenotype	3718	JAK3	ORPHA:35078
HP:0025354	Abnormal cellular phenotype	331	XIAP	OMIM:308240
HP:0025354	Abnormal cellular phenotype	4068	SH2D1A	OMIM:308240
HP:0025354	Abnormal cellular phenotype	29851	ICOS	OMIM:607594
HP:0025354	Abnormal cellular phenotype	29851	ICOS	OMIM:240500
HP:0025354	Abnormal cellular phenotype	7298	TYMS	OMIM:620040
HP:0025354	Abnormal cellular phenotype	57724	EPG5	OMIM:242840
HP:0025354	Abnormal cellular phenotype	57724	EPG5	ORPHA:1493
HP:0025354	Abnormal cellular phenotype	915	CD3D	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	916	CD3E	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	919	CD247	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	65082	VPS33A	ORPHA:505248
HP:0025354	Abnormal cellular phenotype	5966	REL	OMIM:619652
HP:0025354	Abnormal cellular phenotype	23495	TNFRSF13B	OMIM:240500
HP:0025354	Abnormal cellular phenotype	930	CD19	OMIM:240500
HP:0025354	Abnormal cellular phenotype	3978	LIG1	OMIM:619774
HP:0025354	Abnormal cellular phenotype	6651	SON	ORPHA:500150
HP:0025354	Abnormal cellular phenotype	1493	CTLA4	OMIM:616100
HP:0025354	Abnormal cellular phenotype	4791	NFKB2	OMIM:615577
HP:0025354	Abnormal cellular phenotype	1503	CTPS1	OMIM:615897
HP:0025354	Abnormal cellular phenotype	7852	CXCR4	OMIM:193670
HP:0025354	Abnormal cellular phenotype	5896	RAG1	ORPHA:331206
HP:0025354	Abnormal cellular phenotype	5896	RAG1	OMIM:233650
HP:0025354	Abnormal cellular phenotype	5897	RAG2	ORPHA:331206
HP:0025354	Abnormal cellular phenotype	5897	RAG2	OMIM:233650
HP:0025354	Abnormal cellular phenotype	8792	TNFRSF11A	OMIM:612301
HP:0025354	Abnormal cellular phenotype	5557	PRIM1	OMIM:620005
HP:0025354	Abnormal cellular phenotype	3431	SP110	OMIM:235550
HP:0025354	Abnormal cellular phenotype	3514	IGKC	ORPHA:183675
HP:0025354	Abnormal cellular phenotype	3501	IGHG2	ORPHA:183675
HP:0025354	Abnormal cellular phenotype	79087	ALG12	OMIM:607143
HP:0025354	Abnormal cellular phenotype	51311	TLR8	OMIM:301078
HP:0025354	Abnormal cellular phenotype	2068	ERCC2	OMIM:601675
HP:0025354	Abnormal cellular phenotype	7374	UNG	OMIM:608106
HP:0025354	Abnormal cellular phenotype	958	CD40	OMIM:606843
HP:0025354	Abnormal cellular phenotype	567	B2M	OMIM:241600
HP:0025354	Abnormal cellular phenotype	8884	SLC5A6	OMIM:618973
HP:0025354	Abnormal cellular phenotype	96459	FNIP1	OMIM:619705
HP:0025354	Abnormal cellular phenotype	359948	IRF2BP2	OMIM:617765
HP:0025354	Abnormal cellular phenotype	6688	SPI1	OMIM:619707
HP:0025354	Abnormal cellular phenotype	9138	ARHGEF1	OMIM:618459
HP:0025354	Abnormal cellular phenotype	84888	SPPL2A	OMIM:619549
HP:0025354	Abnormal cellular phenotype	6929	TCF3	OMIM:619824
HP:0025354	Abnormal cellular phenotype	165918	RNF168	OMIM:611943
HP:0025354	Abnormal cellular phenotype	165918	RNF168	ORPHA:420741
HP:0025354	Abnormal cellular phenotype	8883	NAE1	OMIM:620210
HP:0025354	Abnormal cellular phenotype	5373	PMM2	OMIM:212065
HP:0025354	Abnormal cellular phenotype	7922	SLC39A7	OMIM:619693
HP:0025354	Abnormal cellular phenotype	1678	TIMM8A	ORPHA:52368
HP:0025354	Abnormal cellular phenotype	973	CD79A	OMIM:613501
HP:0025354	Abnormal cellular phenotype	973	CD79A	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	3543	IGLL1	OMIM:613500
HP:0025354	Abnormal cellular phenotype	3543	IGLL1	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	56262	LRRC8A	OMIM:613506
HP:0025354	Abnormal cellular phenotype	56262	LRRC8A	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	4860	PNP	OMIM:613179
HP:0025354	Abnormal cellular phenotype	3953	LEPR	ORPHA:179494
HP:0025354	Abnormal cellular phenotype	3952	LEP	ORPHA:66628
HP:0025354	Abnormal cellular phenotype	100151683	RNU4ATAC	ORPHA:353298
HP:0025354	Abnormal cellular phenotype	7040	TGFB1	OMIM:618213
HP:0025354	Abnormal cellular phenotype	146206	CARMIL2	OMIM:618131
HP:0025354	Abnormal cellular phenotype	100	ADA	OMIM:102700
HP:0025354	Abnormal cellular phenotype	56259	CTNNBL1	OMIM:619846
HP:0025354	Abnormal cellular phenotype	7372	UMPS	ORPHA:30
HP:0025354	Abnormal cellular phenotype	7372	UMPS	OMIM:258900
HP:0025354	Abnormal cellular phenotype	6899	TBX1	OMIM:188400
HP:0025354	Abnormal cellular phenotype	6899	TBX1	OMIM:192430
HP:0025354	Abnormal cellular phenotype	6899	TBX1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	55630	SLC39A4	OMIM:201100
HP:0025354	Abnormal cellular phenotype	57511	COG6	OMIM:614576
HP:0025354	Abnormal cellular phenotype	9993	DGCR2	OMIM:192430
HP:0025354	Abnormal cellular phenotype	8220	ESS2	OMIM:192430
HP:0025354	Abnormal cellular phenotype	8214	DGCR6	OMIM:192430
HP:0025354	Abnormal cellular phenotype	54487	DGCR8	OMIM:192430
HP:0025354	Abnormal cellular phenotype	1312	COMT	ORPHA:567
HP:0025354	Abnormal cellular phenotype	221037	JMJD1C	ORPHA:567
HP:0025354	Abnormal cellular phenotype	2812	GP1BB	ORPHA:567
HP:0025354	Abnormal cellular phenotype	6239	RREB1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	7290	HIRA	ORPHA:567
HP:0025354	Abnormal cellular phenotype	9632	SEC24C	ORPHA:567
HP:0025354	Abnormal cellular phenotype	7353	UFD1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	421	ARVCF	ORPHA:567
HP:0025354	Abnormal cellular phenotype	4615	MYD88	ORPHA:33226
HP:0025354	Abnormal cellular phenotype	4615	MYD88	OMIM:153600
HP:0025354	Abnormal cellular phenotype	10397	NDRG1	OMIM:601455
HP:0025354	Abnormal cellular phenotype	200205	IBA57	ORPHA:468661
HP:0025354	Abnormal cellular phenotype	200205	IBA57	OMIM:615330
HP:0025354	Abnormal cellular phenotype	112812	FDX2	OMIM:251900
HP:0025354	Abnormal cellular phenotype	27247	NFU1	OMIM:605711
HP:0025354	Abnormal cellular phenotype	6390	SDHB	OMIM:619224
HP:0025354	Abnormal cellular phenotype	9054	NFS1	OMIM:619386
HP:0025354	Abnormal cellular phenotype	6392	SDHD	OMIM:619167
HP:0025354	Abnormal cellular phenotype	1376	CPT2	OMIM:608836
HP:0025354	Abnormal cellular phenotype	1376	CPT2	ORPHA:228305
HP:0025354	Abnormal cellular phenotype	1376	CPT2	ORPHA:228308
HP:0025354	Abnormal cellular phenotype	6341	SCO1	OMIM:619048
HP:0025354	Abnormal cellular phenotype	4568	MT-TL2	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4567	MT-TL1	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4567	MT-TL1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4570	MT-TN	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4574	MT-TS1	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4574	MT-TS1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4558	MT-TF	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4572	MT-TQ	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4512	MT-CO1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4513	MT-CO2	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4514	MT-CO3	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4578	MT-TW	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4540	MT-ND5	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4541	MT-ND6	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4535	MT-ND1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4535	MT-ND1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4538	MT-ND4	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4575	MT-TS2	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4564	MT-TH	ORPHA:550
HP:0025354	Abnormal cellular phenotype	54539	NDUFB11	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	25915	NDUFAF3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	51103	NDUFAF1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	51300	TIMMDC1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4716	NDUFB10	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	284184	NDUFAF8	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4537	MT-ND3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4694	NDUFA1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4726	NDUFS6	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	126328	NDUFA11	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4709	NDUFB3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	80224	NUBPL	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	29078	NDUFAF4	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4700	NDUFA6	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4536	MT-ND2	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4715	NDUFB9	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4508	MT-ATP6	ORPHA:644
HP:0025354	Abnormal cellular phenotype	10939	AFG3L2	ORPHA:313772
HP:0025354	Abnormal cellular phenotype	4625	MYH7	ORPHA:59135
HP:0025354	Abnormal cellular phenotype	6687	SPG7	ORPHA:99013
HP:0025354	Abnormal cellular phenotype	6901	TAFAZZIN	ORPHA:111
HP:0025354	Abnormal cellular phenotype	6901	TAFAZZIN	OMIM:302060
HP:0025354	Abnormal cellular phenotype	2521	FUS	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	8878	SQSTM1	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	7415	VCP	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	23435	TARDBP	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	29110	TBK1	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	3028	HSD17B10	OMIM:300438
HP:0025354	Abnormal cellular phenotype	10128	LRPPRC	OMIM:220111
HP:0025354	Abnormal cellular phenotype	10128	LRPPRC	ORPHA:70472
HP:0025354	Abnormal cellular phenotype	9997	SCO2	OMIM:604377
HP:0025354	Abnormal cellular phenotype	51241	COX16	OMIM:619355
HP:0025354	Abnormal cellular phenotype	26235	FBXL4	OMIM:615471
HP:0025354	Abnormal cellular phenotype	51102	MECR	ORPHA:508093
HP:0025354	Abnormal cellular phenotype	498	ATP5F1A	OMIM:616045
HP:0025354	Abnormal cellular phenotype	80308	FLAD1	OMIM:255100
HP:0025354	Abnormal cellular phenotype	400916	CHCHD10	OMIM:616209
HP:0025354	Abnormal cellular phenotype	85476	GFM1	OMIM:609060
HP:0025354	Abnormal cellular phenotype	10102	TSFM	OMIM:610505
HP:0025354	Abnormal cellular phenotype	57176	VARS2	OMIM:615917
HP:0025354	Abnormal cellular phenotype	56945	MRPS22	OMIM:611719
HP:0025354	Abnormal cellular phenotype	92667	MGME1	OMIM:615084
HP:0025354	Abnormal cellular phenotype	6182	MRPL12	OMIM:618951
HP:0025354	Abnormal cellular phenotype	79587	CARS2	ORPHA:477774
HP:0025354	Abnormal cellular phenotype	79587	CARS2	OMIM:616672
HP:0025354	Abnormal cellular phenotype	291	SLC25A4	OMIM:617184
HP:0025354	Abnormal cellular phenotype	291	SLC25A4	OMIM:615418
HP:0025354	Abnormal cellular phenotype	84340	GFM2	OMIM:618397
HP:0025354	Abnormal cellular phenotype	55278	QRSL1	OMIM:618835
HP:0025354	Abnormal cellular phenotype	5428	POLG	OMIM:613662
HP:0025354	Abnormal cellular phenotype	57570	TRMT5	OMIM:616539
HP:0025354	Abnormal cellular phenotype	51649	MRPS23	OMIM:618952
HP:0025354	Abnormal cellular phenotype	57038	RARS2	OMIM:611523
HP:0025354	Abnormal cellular phenotype	283459	GATC	OMIM:618839
HP:0025354	Abnormal cellular phenotype	28958	COA3	OMIM:619058
HP:0025354	Abnormal cellular phenotype	54802	TRIT1	OMIM:617873
HP:0025354	Abnormal cellular phenotype	116228	COX20	OMIM:619054
HP:0025354	Abnormal cellular phenotype	63899	NSUN3	OMIM:619012
HP:0025354	Abnormal cellular phenotype	388753	COA6	OMIM:616501
HP:0025354	Abnormal cellular phenotype	7084	TK2	OMIM:609560
HP:0025354	Abnormal cellular phenotype	493753	COA5	OMIM:616500
HP:0025354	Abnormal cellular phenotype	4358	MPV17	OMIM:256810
HP:0025354	Abnormal cellular phenotype	29960	MRM2	OMIM:618567
HP:0025354	Abnormal cellular phenotype	708	C1QBP	OMIM:617713
HP:0025354	Abnormal cellular phenotype	91574	MTRFR	OMIM:613559
HP:0025354	Abnormal cellular phenotype	124454	EARS2	OMIM:614924
HP:0025354	Abnormal cellular phenotype	54675	CRLS1	OMIM:620167
HP:0025354	Abnormal cellular phenotype	55750	AGK	OMIM:212350
HP:0025354	Abnormal cellular phenotype	23479	ISCU	OMIM:255125
HP:0025354	Abnormal cellular phenotype	1716	DGUOK	OMIM:251880
HP:0025354	Abnormal cellular phenotype	84334	COA8	OMIM:619061
HP:0025354	Abnormal cellular phenotype	1339	COX6A2	OMIM:619062
HP:0025354	Abnormal cellular phenotype	8802	SUCLG1	OMIM:245400
HP:0025354	Abnormal cellular phenotype	8802	SUCLG1	ORPHA:17
HP:0025354	Abnormal cellular phenotype	100303755	PET117	OMIM:619063
HP:0025354	Abnormal cellular phenotype	80324	PUS1	OMIM:600462
HP:0025354	Abnormal cellular phenotype	9377	COX5A	OMIM:619064
HP:0025354	Abnormal cellular phenotype	64432	MRPS25	OMIM:619025
HP:0025354	Abnormal cellular phenotype	57505	AARS2	OMIM:614096
HP:0025354	Abnormal cellular phenotype	29928	TIMM22	OMIM:618851
HP:0025354	Abnormal cellular phenotype	63931	MRPS14	OMIM:618378
HP:0025354	Abnormal cellular phenotype	115286	SLC25A26	OMIM:616794
HP:0025354	Abnormal cellular phenotype	51067	YARS2	OMIM:613561
HP:0025354	Abnormal cellular phenotype	50484	RRM2B	OMIM:612075
HP:0025354	Abnormal cellular phenotype	125170	MIEF2	OMIM:619024
HP:0025354	Abnormal cellular phenotype	84705	GTPBP3	OMIM:616198
HP:0025354	Abnormal cellular phenotype	84705	GTPBP3	ORPHA:444013
HP:0025354	Abnormal cellular phenotype	9131	AIFM1	OMIM:300816
HP:0025354	Abnormal cellular phenotype	84300	UQCC2	OMIM:615824
HP:0025354	Abnormal cellular phenotype	51021	MRPS16	OMIM:610498
HP:0025354	Abnormal cellular phenotype	79731	NARS2	OMIM:616239
HP:0025354	Abnormal cellular phenotype	3735	KARS1	OMIM:619147
HP:0025354	Abnormal cellular phenotype	8803	SUCLA2	OMIM:612073
HP:0025354	Abnormal cellular phenotype	2671	GFER	OMIM:613076
HP:0025354	Abnormal cellular phenotype	84876	ORAI1	OMIM:612782
HP:0025354	Abnormal cellular phenotype	6786	STIM1	OMIM:612783
HP:0025354	Abnormal cellular phenotype	940	CD28	ORPHA:3162
HP:0025354	Abnormal cellular phenotype	7133	TNFRSF1B	ORPHA:3162
HP:0025354	Abnormal cellular phenotype	6729	SRP54	OMIM:618752
HP:0025354	Abnormal cellular phenotype	213	ALB	ORPHA:86816
HP:0025354	Abnormal cellular phenotype	3845	KRAS	OMIM:614470
HP:0025354	Abnormal cellular phenotype	4893	NRAS	OMIM:614470
HP:0025354	Abnormal cellular phenotype	6440	SFTPC	OMIM:178500
HP:0025354	Abnormal cellular phenotype	727897	MUC5B	OMIM:178500
HP:0025354	Abnormal cellular phenotype	729238	SFTPA2	OMIM:178500
HP:0025354	Abnormal cellular phenotype	11311	VPS45	OMIM:615285
HP:0025354	Abnormal cellular phenotype	5184	PEPD	OMIM:170100
HP:0025354	Abnormal cellular phenotype	1277	COL1A1	ORPHA:1310
HP:0025354	Abnormal cellular phenotype	5692	PSMB4	OMIM:617591
HP:0025354	Abnormal cellular phenotype	5698	PSMB9	OMIM:617591
HP:0025354	Abnormal cellular phenotype	2629	GBA1	ORPHA:77261
HP:0025354	Abnormal cellular phenotype	2629	GBA1	ORPHA:77259
HP:0025354	Abnormal cellular phenotype	9051	PSTPIP1	ORPHA:69126
HP:0025354	Abnormal cellular phenotype	23064	SETX	OMIM:606002
HP:0025354	Abnormal cellular phenotype	1991	ELANE	OMIM:202700
HP:0025354	Abnormal cellular phenotype	950	SCARB2	ORPHA:77259
HP:0025354	Abnormal cellular phenotype	8314	BAP1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	4771	NF2	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6598	SMARCB1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	5155	PDGFB	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	84231	TRAF7	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6608	SMO	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	207	AKT1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	5290	PIK3CA	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	7015	TERT	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	51684	SUFU	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6605	SMARCE1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	7156	TOP3A	OMIM:618097
HP:0025354	Abnormal cellular phenotype	57192	MCOLN1	ORPHA:578
HP:0025354	Abnormal cellular phenotype	57192	MCOLN1	OMIM:252650
HP:0025354	Abnormal cellular phenotype	5286	PIK3C2A	ORPHA:557003
HP:0025354	Abnormal cellular phenotype	4361	MRE11	OMIM:604391
HP:0025354	Abnormal cellular phenotype	2625	GATA3	ORPHA:2237
HP:0025354	Abnormal cellular phenotype	3123	HLA-DRB1	OMIM:181000
HP:0025354	Abnormal cellular phenotype	9200	HACD1	OMIM:619967
HP:0025354	Abnormal cellular phenotype	128240	NAXE	OMIM:617186
HP:0025354	Abnormal cellular phenotype	1020	CDK5	OMIM:616342
HP:0025354	Abnormal cellular phenotype	4702	NDUFA8	OMIM:619272
HP:0025354	Abnormal cellular phenotype	4718	NDUFC2	OMIM:619170
HP:0025354	Abnormal cellular phenotype	55037	PTCD3	OMIM:619057
HP:0025354	Abnormal cellular phenotype	4714	NDUFB8	OMIM:618252
HP:0025354	Abnormal cellular phenotype	122961	ISCA2	OMIM:616370
HP:0025354	Abnormal cellular phenotype	60528	ELAC2	OMIM:615440
HP:0025354	Abnormal cellular phenotype	1468	SLC25A10	OMIM:618972
HP:0025354	Abnormal cellular phenotype	4713	NDUFB7	OMIM:620135
HP:0025354	Abnormal cellular phenotype	1537	CYC1	OMIM:615453
HP:0025354	Abnormal cellular phenotype	27089	UQCRQ	OMIM:615159
HP:0025354	Abnormal cellular phenotype	54902	TTC19	OMIM:615157
HP:0025354	Abnormal cellular phenotype	7381	UQCRB	OMIM:615158
HP:0025354	Abnormal cellular phenotype	25821	MTO1	OMIM:614702
HP:0025354	Abnormal cellular phenotype	90624	LYRM7	OMIM:615838
HP:0025354	Abnormal cellular phenotype	25828	TXN2	ORPHA:478029
HP:0025354	Abnormal cellular phenotype	25828	TXN2	OMIM:616811
HP:0025354	Abnormal cellular phenotype	790955	UQCC3	OMIM:616111
HP:0025354	Abnormal cellular phenotype	7388	UQCRH	OMIM:620137
HP:0025354	Abnormal cellular phenotype	617	BCS1L	OMIM:124000
HP:0025354	Abnormal cellular phenotype	54968	TMEM70	OMIM:614052
HP:0025354	Abnormal cellular phenotype	92609	TIMM50	ORPHA:505216
HP:0025354	Abnormal cellular phenotype	513	ATP5F1D	OMIM:618120
HP:0025354	Abnormal cellular phenotype	514	ATP5F1E	OMIM:614053
HP:0025354	Abnormal cellular phenotype	91647	ATPAF2	OMIM:604273
HP:0025354	Abnormal cellular phenotype	4312	MMP1	ORPHA:79408
HP:0025354	Abnormal cellular phenotype	56947	MFF	ORPHA:485421
HP:0025354	Abnormal cellular phenotype	2232	FDXR	ORPHA:543470
HP:0025354	Abnormal cellular phenotype	56652	TWNK	ORPHA:254892
HP:0025354	Abnormal cellular phenotype	11232	POLG2	ORPHA:254892
HP:0025354	Abnormal cellular phenotype	10059	DNM1L	ORPHA:330050
HP:0025354	Abnormal cellular phenotype	5250	SLC25A3	ORPHA:91130
HP:0025354	Abnormal cellular phenotype	10020	GNE	ORPHA:3166
HP:0025354	Abnormal cellular phenotype	5830	PEX5	OMIM:214110
HP:0025354	Abnormal cellular phenotype	6813	STXBP2	OMIM:613101
HP:0025354	Abnormal cellular phenotype	5551	PRF1	ORPHA:540
HP:0025354	Abnormal cellular phenotype	5551	PRF1	OMIM:603553
HP:0025354	Abnormal cellular phenotype	8676	STX11	ORPHA:540
HP:0025354	Abnormal cellular phenotype	201294	UNC13D	ORPHA:540
HP:0025354	Abnormal cellular phenotype	201294	UNC13D	OMIM:608898
HP:0025354	Abnormal cellular phenotype	58484	NLRC4	OMIM:616050
HP:0025354	Abnormal cellular phenotype	3937	LCP2	OMIM:619374
HP:0025354	Abnormal cellular phenotype	7456	WIPF1	OMIM:614493
HP:0025354	Abnormal cellular phenotype	2214	FCGR3A	OMIM:615707
HP:0025354	Abnormal cellular phenotype	8546	AP3B1	OMIM:608233
HP:0025354	Abnormal cellular phenotype	7535	ZAP70	OMIM:617006
HP:0025354	Abnormal cellular phenotype	494551	WEE2	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	197135	PATL2	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	347688	TUBB8	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	7783	ZP2	OMIM:618353
HP:0025354	Abnormal cellular phenotype	9493	KIF23	ORPHA:98870
HP:0025354	Abnormal cellular phenotype	29127	RACGAP1	ORPHA:98870
HP:0025354	Abnormal cellular phenotype	4000	LMNA	ORPHA:1662
HP:0025354	Abnormal cellular phenotype	10269	ZMPSTE24	ORPHA:1662
HP:0025354	Abnormal cellular phenotype	50674	NEUROG3	ORPHA:83620
HP:0025354	Abnormal cellular phenotype	1890	TYMP	ORPHA:298
HP:0025354	Abnormal cellular phenotype	3980	LIG3	ORPHA:298
HP:0025354	Abnormal cellular phenotype	65998	ZFTA	ORPHA:251636
HP:0025354	Abnormal cellular phenotype	5970	RELA	ORPHA:251636
HP:0025354	Abnormal cellular phenotype	6311	ATXN2	ORPHA:98756
HP:0025354	Abnormal cellular phenotype	4703	NEB	OMIM:256030
HP:0025354	Abnormal cellular phenotype	7273	TTN	OMIM:611705
HP:0025354	Abnormal cellular phenotype	57591	MRTFA	OMIM:618847
HP:0025354	Abnormal cellular phenotype	2271	FH	OMIM:606812
HP:0025354	Abnormal cellular phenotype	55863	TMEM126B	OMIM:618250
HP:0025354	Abnormal cellular phenotype	79784	MYH14	ORPHA:397744
HP:0025354	Abnormal cellular phenotype	57128	LYRM4	OMIM:615595
HP:0025354	Abnormal cellular phenotype	3981	LIG4	OMIM:254500
HP:0025354	Abnormal cellular phenotype	84061	MAGT1	OMIM:300853
HP:0025354	Abnormal cellular phenotype	7414	VCL	OMIM:613255
HP:0025354	Abnormal cellular phenotype	7137	TNNI3	OMIM:611880
HP:0025354	Abnormal cellular phenotype	57538	ALPK3	OMIM:618052
HP:0025354	Abnormal cellular phenotype	70	ACTC1	OMIM:613424
HP:0025354	Abnormal cellular phenotype	1832	DSP	OMIM:605676
HP:0025354	Abnormal cellular phenotype	88	ACTN2	OMIM:612158
HP:0025354	Abnormal cellular phenotype	54800	KLHL24	OMIM:620236
HP:0025354	Abnormal cellular phenotype	22845	DOLK	ORPHA:91131
HP:0025354	Abnormal cellular phenotype	779	CACNA1S	ORPHA:423
HP:0025354	Abnormal cellular phenotype	6261	RYR1	ORPHA:423
HP:0025354	Abnormal cellular phenotype	57104	PNPLA2	ORPHA:565612
HP:0025354	Abnormal cellular phenotype	7139	TNNT2	OMIM:612422
HP:0025354	Abnormal cellular phenotype	442721	LMOD2	OMIM:619897
HP:0025354	Abnormal cellular phenotype	50619	DEF6	OMIM:619573
HP:0025354	Abnormal cellular phenotype	6772	STAT1	OMIM:614162
HP:0025354	Abnormal cellular phenotype	55388	MCM10	OMIM:619313
HP:0025354	Abnormal cellular phenotype	55719	SLF2	OMIM:620184
HP:0025354	Abnormal cellular phenotype	1794	DOCK2	OMIM:616433
HP:0025354	Abnormal cellular phenotype	23765	IL17RA	OMIM:613953
HP:0025354	Abnormal cellular phenotype	55596	ZCCHC8	OMIM:618674
HP:0025354	Abnormal cellular phenotype	5073	PARN	OMIM:616371
HP:0025354	Abnormal cellular phenotype	5073	PARN	OMIM:616353
HP:0025354	Abnormal cellular phenotype	134218	DNAJC21	OMIM:617052
HP:0025354	Abnormal cellular phenotype	65057	ACD	OMIM:616553
HP:0025354	Abnormal cellular phenotype	25913	POT1	OMIM:616568
HP:0025354	Abnormal cellular phenotype	4194	MDM4	OMIM:618849
HP:0025354	Abnormal cellular phenotype	55135	WRAP53	OMIM:613988
HP:0025354	Abnormal cellular phenotype	93183	PIGM	OMIM:610293
HP:0025354	Abnormal cellular phenotype	6850	SYK	OMIM:619381
HP:0025354	Abnormal cellular phenotype	10625	IVNS1ABP	OMIM:618969
HP:0025354	Abnormal cellular phenotype	537	ATP6AP1	OMIM:300972
HP:0025354	Abnormal cellular phenotype	90417	KNSTRN	ORPHA:221139
HP:0025354	Abnormal cellular phenotype	975	CD81	OMIM:613496
HP:0025354	Abnormal cellular phenotype	931	MS4A1	OMIM:613495
HP:0025354	Abnormal cellular phenotype	64135	IFIH1	OMIM:619773
HP:0025354	Abnormal cellular phenotype	30011	SH3KBP1	OMIM:300310
HP:0025354	Abnormal cellular phenotype	24145	PANX1	OMIM:618550
HP:0025354	Abnormal cellular phenotype	9453	GGPS1	OMIM:619518
HP:0025354	Abnormal cellular phenotype	1120	CHKB	OMIM:602541
HP:0025354	Abnormal cellular phenotype	6123	RPL3L	OMIM:619371
HP:0025354	Abnormal cellular phenotype	5190	PEX6	OMIM:614862
HP:0025354	Abnormal cellular phenotype	410	ARSA	OMIM:250100
HP:0025354	Abnormal cellular phenotype	4173	MCM4	OMIM:609981
HP:0025354	Abnormal cellular phenotype	1763	DNA2	ORPHA:352470
HP:0025354	Abnormal cellular phenotype	119559	SFXN4	OMIM:615578
HP:0025354	Abnormal cellular phenotype	2992	GYG1	ORPHA:263297
HP:0025354	Abnormal cellular phenotype	427	ASAH1	OMIM:228000
HP:0025354	Abnormal cellular phenotype	10026	PIGK	OMIM:618879
HP:0025354	Abnormal cellular phenotype	917	CD3G	OMIM:615607
HP:0025354	Abnormal cellular phenotype	7737	RNF113A	OMIM:300953
HP:0025354	Abnormal cellular phenotype	1380	CR2	OMIM:614699
HP:0025354	Abnormal cellular phenotype	3030	HADHA	OMIM:609016
HP:0025354	Abnormal cellular phenotype	7248	TSC1	OMIM:191100
HP:0025354	Abnormal cellular phenotype	701	BUB1B	OMIM:176430
HP:0025354	Abnormal cellular phenotype	701	BUB1B	OMIM:257300
HP:0025354	Abnormal cellular phenotype	9319	TRIP13	OMIM:617598
HP:0025354	Abnormal cellular phenotype	1593	CYP27A1	ORPHA:909
HP:0025354	Abnormal cellular phenotype	87178	PNPT1	ORPHA:319514
HP:0025354	Abnormal cellular phenotype	84277	DNAJC30	ORPHA:104
HP:0025354	Abnormal cellular phenotype	4519	MT-CYB	ORPHA:104
HP:0025354	Abnormal cellular phenotype	4539	MT-ND4L	ORPHA:104
HP:0025354	Abnormal cellular phenotype	5495	PPM1B	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	6519	SLC3A1	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	9581	PREPL	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	79823	CAMKMT	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	6773	STAT2	OMIM:616636
HP:0025354	Abnormal cellular phenotype	3394	IRF8	OMIM:226990
HP:0025354	Abnormal cellular phenotype	4598	MVK	OMIM:260920
HP:0025354	Abnormal cellular phenotype	4598	MVK	OMIM:610377
HP:0025354	Abnormal cellular phenotype	55343	SLC35C1	ORPHA:99843
HP:0025354	Abnormal cellular phenotype	10892	MALT1	OMIM:615468
HP:0025354	Abnormal cellular phenotype	11151	CORO1A	OMIM:615401
HP:0025354	Abnormal cellular phenotype	54790	TET2	OMIM:619126
HP:0025355	Retinal arterial macroaneurysms	3490	IGFBP7	OMIM:614224
HP:0025357	Erratic myoclonus	10749	KIF1C	ORPHA:397946
HP:0025357	Erratic myoclonus	535	ATP6V0A1	OMIM:619971
HP:0025357	Erratic myoclonus	378884	NHLRC1	ORPHA:501
HP:0025357	Erratic myoclonus	7957	EPM2A	ORPHA:501
HP:0025357	Erratic myoclonus	170302	ARX	OMIM:308350
HP:0025358	Uveal ectropion	58495	OVOL2	OMIM:122000
HP:0025358	Uveal ectropion	58495	OVOL2	ORPHA:98973
HP:0025358	Uveal ectropion	27151	CPAMD8	OMIM:617319
HP:0025358	Uveal ectropion	3913	LAMB2	OMIM:609049
HP:0025358	Uveal ectropion	6935	ZEB1	ORPHA:98973
HP:0025358	Uveal ectropion	30813	VSX1	ORPHA:98973
HP:0025358	Uveal ectropion	79977	GRHL2	ORPHA:98973
HP:0025358	Uveal ectropion	1296	COL8A2	ORPHA:98973
HP:0025361	Abnormality of medullary pyramid morphology	9361	LONP1	ORPHA:79243
HP:0025361	Abnormality of medullary pyramid morphology	5160	PDHA1	ORPHA:79243
HP:0025368	Abnormal growth plate morphology	1300	COL10A1	ORPHA:174
HP:0025368	Abnormal growth plate morphology	5251	PHEX	ORPHA:89936
HP:0025368	Abnormal growth plate morphology	4322	MMP13	ORPHA:93356
HP:0025369	Thick growth plates	1300	COL10A1	ORPHA:174
HP:0025369	Thick growth plates	5251	PHEX	ORPHA:89936
HP:0025369	Thick growth plates	4322	MMP13	ORPHA:93356
HP:0025370	Abnormal ossification of the sacrum	1280	COL2A1	ORPHA:93296
HP:0025370	Abnormal ossification of the sacrum	168667	BMPER	OMIM:608022
HP:0025372	Loud snoring	2990	GUSB	OMIM:253220
HP:0025373	Interictal EEG abnormality	401474	SAMD12	OMIM:601068
HP:0025373	Interictal EEG abnormality	57465	TBC1D24	ORPHA:352596
HP:0025373	Interictal EEG abnormality	56910	STARD7	OMIM:607876
HP:0025373	Interictal EEG abnormality	27286	SRPX2	ORPHA:1945
HP:0025373	Interictal EEG abnormality	5138	PDE2A	ORPHA:31709
HP:0025373	Interictal EEG abnormality	29968	PSAT1	ORPHA:284417
HP:0025373	Interictal EEG abnormality	84992	PIGY	ORPHA:247262
HP:0025373	Interictal EEG abnormality	84720	PIGO	ORPHA:247262
HP:0025373	Interictal EEG abnormality	93210	PGAP3	ORPHA:247262
HP:0025373	Interictal EEG abnormality	284098	PIGW	ORPHA:247262
HP:0025373	Interictal EEG abnormality	27315	PGAP2	ORPHA:247262
HP:0025373	Interictal EEG abnormality	55650	PIGV	ORPHA:247262
HP:0025373	Interictal EEG abnormality	9487	PIGL	ORPHA:247262
HP:0025373	Interictal EEG abnormality	10297	APC2	OMIM:617169
HP:0025373	Interictal EEG abnormality	3747	KCNC2	OMIM:619913
HP:0025373	Interictal EEG abnormality	55689	YEATS2	OMIM:615127
HP:0025373	Interictal EEG abnormality	7532	YWHAG	OMIM:617665
HP:0025373	Interictal EEG abnormality	60482	SLC5A7	ORPHA:98914
HP:0025373	Interictal EEG abnormality	4649	MYO9A	ORPHA:98914
HP:0025373	Interictal EEG abnormality	1305	COL13A1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	1103	CHAT	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6576	SLC25A1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6843	VAMP1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	375790	AGRN	ORPHA:98914
HP:0025373	Interictal EEG abnormality	127833	SYT2	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6572	SLC18A3	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6616	SNAP25	ORPHA:98914
HP:0025373	Interictal EEG abnormality	2563	GABRD	ORPHA:307
HP:0025373	Interictal EEG abnormality	1181	CLCN2	ORPHA:307
HP:0025373	Interictal EEG abnormality	22858	CILK1	ORPHA:307
HP:0025373	Interictal EEG abnormality	785	CACNB4	ORPHA:307
HP:0025373	Interictal EEG abnormality	785	CACNB4	OMIM:607682
HP:0025373	Interictal EEG abnormality	9289	ADGRG1	ORPHA:98889
HP:0025373	Interictal EEG abnormality	5297	PI4KA	ORPHA:98889
HP:0025373	Interictal EEG abnormality	144165	PRICKLE1	ORPHA:308
HP:0025373	Interictal EEG abnormality	950	SCARB2	ORPHA:308
HP:0025373	Interictal EEG abnormality	3155	HMGCL	ORPHA:20
HP:0025373	Interictal EEG abnormality	8243	SMC1A	OMIM:301044
HP:0025373	Interictal EEG abnormality	199857	ALG14	OMIM:619036
HP:0025373	Interictal EEG abnormality	9853	RUSC2	OMIM:617773
HP:0025373	Interictal EEG abnormality	343450	KCNT2	OMIM:617771
HP:0025373	Interictal EEG abnormality	10564	ARFGEF2	OMIM:608097
HP:0025373	Interictal EEG abnormality	1798	DPAGT1	OMIM:608093
HP:0025373	Interictal EEG abnormality	1798	DPAGT1	ORPHA:86309
HP:0025373	Interictal EEG abnormality	9526	MPDU1	OMIM:609180
HP:0025373	Interictal EEG abnormality	9526	MPDU1	ORPHA:79323
HP:0025373	Interictal EEG abnormality	6328	SCN3A	OMIM:617938
HP:0025373	Interictal EEG abnormality	6328	SCN3A	ORPHA:442835
HP:0025373	Interictal EEG abnormality	8496	PPFIBP1	OMIM:620024
HP:0025373	Interictal EEG abnormality	170302	ARX	OMIM:308350
HP:0025373	Interictal EEG abnormality	170302	ARX	ORPHA:3451
HP:0025373	Interictal EEG abnormality	170302	ARX	ORPHA:1934
HP:0025373	Interictal EEG abnormality	2258	FGF13	OMIM:301058
HP:0025373	Interictal EEG abnormality	2258	FGF13	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51112	TRAPPC12	ORPHA:500144
HP:0025373	Interictal EEG abnormality	51112	TRAPPC12	OMIM:617669
HP:0025373	Interictal EEG abnormality	26275	HIBCH	ORPHA:88639
HP:0025373	Interictal EEG abnormality	64801	ARV1	OMIM:617020
HP:0025373	Interictal EEG abnormality	64801	ARV1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	79868	ALG13	OMIM:300884
HP:0025373	Interictal EEG abnormality	79868	ALG13	ORPHA:324422
HP:0025373	Interictal EEG abnormality	8867	SYNJ1	OMIM:617389
HP:0025373	Interictal EEG abnormality	8867	SYNJ1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	10659	CELF2	OMIM:619561
HP:0025373	Interictal EEG abnormality	10659	CELF2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51506	UFC1	OMIM:618076
HP:0025373	Interictal EEG abnormality	3745	KCNB1	OMIM:616056
HP:0025373	Interictal EEG abnormality	3745	KCNB1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6487	ST3GAL3	OMIM:615006
HP:0025373	Interictal EEG abnormality	6487	ST3GAL3	ORPHA:3451
HP:0025373	Interictal EEG abnormality	112939	NACC1	ORPHA:500545
HP:0025373	Interictal EEG abnormality	55780	ERMARD	ORPHA:75857
HP:0025373	Interictal EEG abnormality	55780	ERMARD	OMIM:615544
HP:0025373	Interictal EEG abnormality	3767	KCNJ11	ORPHA:79134
HP:0025373	Interictal EEG abnormality	3767	KCNJ11	OMIM:618856
HP:0025373	Interictal EEG abnormality	79731	NARS2	ORPHA:79134
HP:0025373	Interictal EEG abnormality	23097	CDK19	OMIM:618916
HP:0025373	Interictal EEG abnormality	23097	CDK19	ORPHA:442835
HP:0025373	Interictal EEG abnormality	4763	NF1	OMIM:162200
HP:0025373	Interictal EEG abnormality	84340	GFM2	ORPHA:565624
HP:0025373	Interictal EEG abnormality	84340	GFM2	OMIM:618397
HP:0025373	Interictal EEG abnormality	2560	GABRB1	OMIM:617153
HP:0025373	Interictal EEG abnormality	79641	ROGDI	OMIM:226750
HP:0025373	Interictal EEG abnormality	150094	SIK1	OMIM:616341
HP:0025373	Interictal EEG abnormality	150094	SIK1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	150094	SIK1	ORPHA:1935
HP:0025373	Interictal EEG abnormality	150094	SIK1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	535	ATP6V0A1	OMIM:619970
HP:0025373	Interictal EEG abnormality	8120	AP3B2	OMIM:617276
HP:0025373	Interictal EEG abnormality	8120	AP3B2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1759	DNM1	OMIM:616346
HP:0025373	Interictal EEG abnormality	1759	DNM1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1759	DNM1	OMIM:620352
HP:0025373	Interictal EEG abnormality	6709	SPTAN1	OMIM:613477
HP:0025373	Interictal EEG abnormality	6709	SPTAN1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	4915	NTRK2	OMIM:617830
HP:0025373	Interictal EEG abnormality	4915	NTRK2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	4915	NTRK2	ORPHA:3451
HP:0025373	Interictal EEG abnormality	9326	ZNHIT3	ORPHA:2836
HP:0025373	Interictal EEG abnormality	9326	ZNHIT3	OMIM:260565
HP:0025373	Interictal EEG abnormality	547	KIF1A	ORPHA:2836
HP:0025373	Interictal EEG abnormality	7965	AIMP2	OMIM:618006
HP:0025373	Interictal EEG abnormality	3054	HCFC1	OMIM:309541
HP:0025373	Interictal EEG abnormality	26999	CYFIP2	OMIM:618008
HP:0025373	Interictal EEG abnormality	26999	CYFIP2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	9361	LONP1	ORPHA:79243
HP:0025373	Interictal EEG abnormality	5160	PDHA1	ORPHA:79243
HP:0025373	Interictal EEG abnormality	5805	PTS	ORPHA:13
HP:0025373	Interictal EEG abnormality	1327	COX4I1	OMIM:619060
HP:0025373	Interictal EEG abnormality	283987	HID1	OMIM:619983
HP:0025373	Interictal EEG abnormality	2906	GRIN2D	OMIM:617162
HP:0025373	Interictal EEG abnormality	2906	GRIN2D	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25930	PTPN23	OMIM:618890
HP:0025373	Interictal EEG abnormality	5277	PIGA	OMIM:300868
HP:0025373	Interictal EEG abnormality	5277	PIGA	ORPHA:3451
HP:0025373	Interictal EEG abnormality	23327	NEDD4L	OMIM:617201
HP:0025373	Interictal EEG abnormality	1822	ATN1	OMIM:618494
HP:0025373	Interictal EEG abnormality	132158	GLYCTK	OMIM:220120
HP:0025373	Interictal EEG abnormality	4761	NEUROD2	OMIM:618374
HP:0025373	Interictal EEG abnormality	4761	NEUROD2	ORPHA:1934
HP:0025373	Interictal EEG abnormality	84896	ATAD1	OMIM:618011
HP:0025373	Interictal EEG abnormality	523	ATP6V1A	OMIM:618012
HP:0025373	Interictal EEG abnormality	523	ATP6V1A	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1641	DCX	ORPHA:2148
HP:0025373	Interictal EEG abnormality	284184	NDUFAF8	OMIM:618776
HP:0025373	Interictal EEG abnormality	10991	SLC38A3	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51343	FZR1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	22906	TRAK1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1917	EEF1A2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1917	EEF1A2	OMIM:616409
HP:0025373	Interictal EEG abnormality	2561	GABRB2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	79876	UBA5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2558	GABRA5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	781	CACNA2D1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	116150	NUS1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	774	CACNA1B	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1213	CLTC	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51741	WWOX	ORPHA:442835
HP:0025373	Interictal EEG abnormality	23334	SZT2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	348980	HCN1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6506	SLC1A2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6506	SLC1A2	OMIM:617105
HP:0025373	Interictal EEG abnormality	477	ATP1A2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	284111	SLC13A5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	16	AARS1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	22866	CNKSR2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2555	GABRA2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	55152	DALRD3	ORPHA:442835
HP:0025373	Interictal EEG abnormality	773	CACNA1A	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25973	PARS2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25973	PARS2	OMIM:618437
HP:0025373	Interictal EEG abnormality	79947	DHDDS	ORPHA:442835
HP:0025373	Interictal EEG abnormality	26040	SETBP1	OMIM:269150
HP:0025373	Interictal EEG abnormality	26040	SETBP1	ORPHA:798
HP:0025373	Interictal EEG abnormality	149371	EXOC8	OMIM:619076
HP:0025373	Interictal EEG abnormality	23316	CUX2	OMIM:618141
HP:0025373	Interictal EEG abnormality	6812	STXBP1	OMIM:612164
HP:0025373	Interictal EEG abnormality	55699	IARS2	OMIM:616007
HP:0025373	Interictal EEG abnormality	92609	TIMM50	OMIM:617698
HP:0025373	Interictal EEG abnormality	92609	TIMM50	ORPHA:505216
HP:0025373	Interictal EEG abnormality	8452	CUL3	OMIM:619239
HP:0025373	Interictal EEG abnormality	116115	ZNF526	OMIM:619877
HP:0025373	Interictal EEG abnormality	538	ATP7A	OMIM:309400
HP:0025373	Interictal EEG abnormality	378884	NHLRC1	ORPHA:501
HP:0025373	Interictal EEG abnormality	7957	EPM2A	ORPHA:501
HP:0025373	Interictal EEG abnormality	85365	ALG2	ORPHA:79326
HP:0025373	Interictal EEG abnormality	85365	ALG2	OMIM:607906
HP:0025373	Interictal EEG abnormality	4247	MGAT2	ORPHA:79329
HP:0025373	Interictal EEG abnormality	728294	D2HGDH	OMIM:600721
HP:0025373	Interictal EEG abnormality	2571	GAD1	OMIM:619124
HP:0025373	Interictal EEG abnormality	60558	GUF1	OMIM:617065
HP:0025373	Interictal EEG abnormality	60558	GUF1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	51124	IER3IP1	OMIM:614231
HP:0025373	Interictal EEG abnormality	26227	PHGDH	OMIM:601815
HP:0025373	Interictal EEG abnormality	7358	UGDH	OMIM:618792
HP:0025373	Interictal EEG abnormality	56947	MFF	ORPHA:485421
HP:0025373	Interictal EEG abnormality	56947	MFF	OMIM:617086
HP:0025373	Interictal EEG abnormality	2904	GRIN2B	OMIM:616139
HP:0025373	Interictal EEG abnormality	2904	GRIN2B	ORPHA:3451
HP:0025373	Interictal EEG abnormality	4190	MDH1	OMIM:618959
HP:0025373	Interictal EEG abnormality	9373	PLAA	ORPHA:521426
HP:0025373	Interictal EEG abnormality	55704	CCDC88A	OMIM:617507
HP:0025373	Interictal EEG abnormality	9440	MED17	OMIM:613668
HP:0025373	Interictal EEG abnormality	221692	PHACTR1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	221692	PHACTR1	OMIM:618298
HP:0025373	Interictal EEG abnormality	10695	CNPY3	ORPHA:3451
HP:0025373	Interictal EEG abnormality	10695	CNPY3	OMIM:617929
HP:0025373	Interictal EEG abnormality	23236	PLCB1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	23236	PLCB1	OMIM:613722
HP:0025373	Interictal EEG abnormality	11152	WDR45	ORPHA:3451
HP:0025373	Interictal EEG abnormality	10681	GNB5	ORPHA:542306
HP:0025373	Interictal EEG abnormality	55739	NAXD	OMIM:618321
HP:0025373	Interictal EEG abnormality	440	ASNS	OMIM:615574
HP:0025373	Interictal EEG abnormality	777	CACNA1E	OMIM:618285
HP:0025373	Interictal EEG abnormality	79718	TBL1XR1	OMIM:616944
HP:0025373	Interictal EEG abnormality	51294	PCDH12	OMIM:251280
HP:0025373	Interictal EEG abnormality	64116	SLC39A8	ORPHA:468699
HP:0025373	Interictal EEG abnormality	5048	PAFAH1B1	ORPHA:95232
HP:0025373	Interictal EEG abnormality	6509	SLC1A4	ORPHA:447997
HP:0025373	Interictal EEG abnormality	2801	GOLGA2	OMIM:620240
HP:0025373	Interictal EEG abnormality	10195	ALG3	OMIM:601110
HP:0025373	Interictal EEG abnormality	51733	UPB1	OMIM:613161
HP:0025373	Interictal EEG abnormality	7040	TGFB1	OMIM:618213
HP:0025373	Interictal EEG abnormality	1496	CTNNA2	OMIM:618174
HP:0025373	Interictal EEG abnormality	55753	OGDHL	OMIM:619701
HP:0025373	Interictal EEG abnormality	79751	SLC25A22	ORPHA:1935
HP:0025373	Interictal EEG abnormality	79751	SLC25A22	ORPHA:1934
HP:0025373	Interictal EEG abnormality	3736	KCNA1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	9091	PIGQ	ORPHA:1934
HP:0025373	Interictal EEG abnormality	2902	GRIN1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	8573	CASK	ORPHA:1934
HP:0025373	Interictal EEG abnormality	23312	DMXL2	ORPHA:1934
HP:0025373	Interictal EEG abnormality	11284	PNKP	ORPHA:1934
HP:0025373	Interictal EEG abnormality	1203	CLN5	ORPHA:228360
HP:0025373	Interictal EEG abnormality	443	ASPA	OMIM:271900
HP:0025373	Interictal EEG abnormality	2775	GNAO1	OMIM:617493
HP:0025373	Interictal EEG abnormality	51604	PIGT	OMIM:615398
HP:0025373	Interictal EEG abnormality	51604	PIGT	ORPHA:369837
HP:0025373	Interictal EEG abnormality	8913	CACNA1G	OMIM:618087
HP:0025373	Interictal EEG abnormality	8218	CLTCL1	ORPHA:453510
HP:0025373	Interictal EEG abnormality	6711	SPTBN1	OMIM:619475
HP:0025373	Interictal EEG abnormality	5530	PPP3CA	OMIM:617711
HP:0025373	Interictal EEG abnormality	51227	PIGP	OMIM:617599
HP:0025373	Interictal EEG abnormality	132	ADK	OMIM:614300
HP:0025373	Interictal EEG abnormality	51412	ACTL6B	OMIM:618468
HP:0025373	Interictal EEG abnormality	85440	DOCK7	ORPHA:411986
HP:0025373	Interictal EEG abnormality	22845	DOLK	ORPHA:91131
HP:0025373	Interictal EEG abnormality	23389	MED13L	ORPHA:369891
HP:0025373	Interictal EEG abnormality	6335	SCN9A	ORPHA:33069
HP:0025373	Interictal EEG abnormality	6326	SCN2A	ORPHA:33069
HP:0025373	Interictal EEG abnormality	6324	SCN1B	ORPHA:33069
HP:0025373	Interictal EEG abnormality	57526	PCDH19	ORPHA:33069
HP:0025373	Interictal EEG abnormality	10128	LRPPRC	ORPHA:70472
HP:0025373	Interictal EEG abnormality	501	ALDH7A1	ORPHA:3006
HP:0025373	Interictal EEG abnormality	11212	PLPBP	ORPHA:3006
HP:0025373	Interictal EEG abnormality	8131	NPRL3	ORPHA:98820
HP:0025373	Interictal EEG abnormality	10641	NPRL2	ORPHA:98820
HP:0025373	Interictal EEG abnormality	9681	DEPDC5	ORPHA:98820
HP:0025373	Interictal EEG abnormality	6821	SUOX	OMIM:272300
HP:0025373	Interictal EEG abnormality	4615	MYD88	ORPHA:33226
HP:0025373	Interictal EEG abnormality	6792	CDKL5	ORPHA:505652
HP:0025373	Interictal EEG abnormality	1468	SLC25A10	OMIM:618972
HP:0025373	Interictal EEG abnormality	79587	CARS2	OMIM:616672
HP:0025373	Interictal EEG abnormality	2257	FGF12	OMIM:617166
HP:0025373	Interictal EEG abnormality	2782	GNB1	ORPHA:488613
HP:0025373	Interictal EEG abnormality	2782	GNB1	OMIM:616973
HP:0025373	Interictal EEG abnormality	1106	CHD2	OMIM:615369
HP:0025373	Interictal EEG abnormality	1806	DPYD	ORPHA:1675
HP:0025373	Interictal EEG abnormality	478	ATP1A3	OMIM:619606
HP:0025373	Interictal EEG abnormality	7280	TUBB2A	OMIM:615763
HP:0025373	Interictal EEG abnormality	6334	SCN8A	OMIM:614558
HP:0025373	Interictal EEG abnormality	10565	ARFGEF1	OMIM:619964
HP:0025373	Interictal EEG abnormality	6304	SATB1	OMIM:619229
HP:0025373	Interictal EEG abnormality	9568	GABBR2	OMIM:617904
HP:0025373	Interictal EEG abnormality	56052	ALG1	OMIM:608540
HP:0025373	Interictal EEG abnormality	8869	ST3GAL5	OMIM:609056
HP:0025373	Interictal EEG abnormality	6513	SLC2A1	ORPHA:64280
HP:0025373	Interictal EEG abnormality	2562	GABRB3	ORPHA:64280
HP:0025373	Interictal EEG abnormality	2554	GABRA1	ORPHA:64280
HP:0025373	Interictal EEG abnormality	8912	CACNA1H	ORPHA:64280
HP:0025373	Interictal EEG abnormality	8629	JRK	ORPHA:64280
HP:0025373	Interictal EEG abnormality	3737	KCNA2	OMIM:616366
HP:0025373	Interictal EEG abnormality	23067	SETD1B	OMIM:619000
HP:0025373	Interictal EEG abnormality	6323	SCN1A	OMIM:619317
HP:0025373	Interictal EEG abnormality	3778	KCNMA1	OMIM:609446
HP:0025373	Interictal EEG abnormality	3778	KCNMA1	ORPHA:79137
HP:0025373	Interictal EEG abnormality	114327	EFHC1	OMIM:607631
HP:0025373	Interictal EEG abnormality	2566	GABRG2	OMIM:607681
HP:0025373	Interictal EEG abnormality	6857	SYT1	ORPHA:522077
HP:0025373	Interictal EEG abnormality	10157	AASS	ORPHA:2203
HP:0025373	Interictal EEG abnormality	57094	CPA6	OMIM:614417
HP:0025373	Interictal EEG abnormality	112755	STX1B	ORPHA:36387
HP:0025373	Interictal EEG abnormality	84059	ADGRV1	ORPHA:36387
HP:0025373	Interictal EEG abnormality	51422	PRKAG2	OMIM:261740
HP:0025373	Interictal EEG abnormality	1020	CDK5	OMIM:616342
HP:0025373	Interictal EEG abnormality	94005	PIGS	OMIM:618143
HP:0025373	Interictal EEG abnormality	8818	DPM2	ORPHA:329178
HP:0025373	Interictal EEG abnormality	708	C1QBP	OMIM:617713
HP:0025373	Interictal EEG abnormality	2744	GLS	OMIM:618328
HP:0025373	Interictal EEG abnormality	7841	MOGS	OMIM:606056
HP:0025373	Interictal EEG abnormality	57176	VARS2	OMIM:615917
HP:0025373	Interictal EEG abnormality	7707	ZNF148	OMIM:617260
HP:0025373	Interictal EEG abnormality	440138	ALG11	ORPHA:280071
HP:0025373	Interictal EEG abnormality	91137	SLC25A46	OMIM:619303
HP:0025373	Interictal EEG abnormality	18	ABAT	OMIM:613163
HP:0025373	Interictal EEG abnormality	4905	NSF	OMIM:619340
HP:0025373	Interictal EEG abnormality	1785	DNM2	OMIM:615368
HP:0025373	Interictal EEG abnormality	221927	BRAT1	OMIM:614498
HP:0025373	Interictal EEG abnormality	55163	PNPO	ORPHA:79096
HP:0025373	Interictal EEG abnormality	26960	NBEA	OMIM:619157
HP:0025373	Interictal EEG abnormality	2892	GRIA3	OMIM:300699
HP:0025373	Interictal EEG abnormality	104	ADARB1	OMIM:618862
HP:0025373	Interictal EEG abnormality	92335	STRADA	ORPHA:500533
HP:0025373	Interictal EEG abnormality	2890	GRIA1	OMIM:619931
HP:0025373	Interictal EEG abnormality	2917	GRM7	OMIM:618922
HP:0025373	Interictal EEG abnormality	25977	NECAP1	OMIM:615833
HP:0025373	Interictal EEG abnormality	23732	FRRS1L	ORPHA:725
HP:0025373	Interictal EEG abnormality	2903	GRIN2A	ORPHA:725
HP:0025373	Interictal EEG abnormality	112476	PRRT2	ORPHA:306
HP:0025373	Interictal EEG abnormality	3785	KCNQ2	ORPHA:306
HP:0025373	Interictal EEG abnormality	3786	KCNQ3	ORPHA:306
HP:0025373	Interictal EEG abnormality	9570	GOSR2	OMIM:620166
HP:0025373	Interictal EEG abnormality	84081	NSRP1	OMIM:620001
HP:0025373	Interictal EEG abnormality	8831	SYNGAP1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	1173	AP2M1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	340533	NEXMIF	ORPHA:1942
HP:0025373	Interictal EEG abnormality	6529	SLC6A1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	26047	CNTNAP2	ORPHA:163681
HP:0025373	Interictal EEG abnormality	815	CAMK2A	OMIM:618095
HP:0025373	Interictal EEG abnormality	1137	CHRNA4	ORPHA:98784
HP:0025373	Interictal EEG abnormality	1135	CHRNA2	ORPHA:98784
HP:0025373	Interictal EEG abnormality	57010	CABP4	ORPHA:98784
HP:0025373	Interictal EEG abnormality	1141	CHRNB2	ORPHA:98784
HP:0025373	Interictal EEG abnormality	57582	KCNT1	ORPHA:98784
HP:0025373	Interictal EEG abnormality	1392	CRH	ORPHA:98784
HP:0025373	Interictal EEG abnormality	10479	SLC9A6	OMIM:300243
HP:0025373	Interictal EEG abnormality	6833	ABCC8	OMIM:618857
HP:0025373	Interictal EEG abnormality	10844	TUBGCP2	OMIM:618737
HP:0025373	Interictal EEG abnormality	6900	CNTN2	OMIM:615400
HP:0025373	Interictal EEG abnormality	7407	VARS1	OMIM:617802
HP:0025373	Interictal EEG abnormality	1476	CSTB	OMIM:254800
HP:0025373	Interictal EEG abnormality	9990	SLC12A6	OMIM:218000
HP:0025373	Interictal EEG abnormality	4131	MAP1B	OMIM:618918
HP:0025373	Interictal EEG abnormality	154881	KCTD7	ORPHA:263516
HP:0025373	Interictal EEG abnormality	7337	UBE3A	ORPHA:98795
HP:0025373	Interictal EEG abnormality	5649	RELN	ORPHA:101046
HP:0025373	Interictal EEG abnormality	9211	LGI1	ORPHA:101046
HP:0025373	Interictal EEG abnormality	284058	KANSL1	ORPHA:363965
HP:0025373	Interictal EEG abnormality	284058	KANSL1	ORPHA:363958
HP:0025373	Interictal EEG abnormality	54681	P4HTM	OMIM:618493
HP:0025373	Interictal EEG abnormality	7355	SLC35A2	ORPHA:356961
HP:0025373	Interictal EEG abnormality	5631	PRPS1	ORPHA:1187
HP:0025373	Interictal EEG abnormality	11342	RNF13	ORPHA:544503
HP:0025373	Interictal EEG abnormality	4204	MECP2	ORPHA:3077
HP:0025373	Interictal EEG abnormality	57107	PDSS2	ORPHA:255249
HP:0025373	Interictal EEG abnormality	27235	COQ2	ORPHA:255249
HP:0025373	Interictal EEG abnormality	54872	PIGG	ORPHA:488635
HP:0025373	Interictal EEG abnormality	54872	PIGG	OMIM:616917
HP:0025373	Interictal EEG abnormality	1183	CLCN4	ORPHA:485350
HP:0025373	Interictal EEG abnormality	5602	MAPK10	ORPHA:2382
HP:0025373	Interictal EEG abnormality	10730	YME1L1	OMIM:617302
HP:0025373	Interictal EEG abnormality	1605	DAG1	ORPHA:370997
HP:0025373	Interictal EEG abnormality	25814	ATXN10	ORPHA:98761
HP:0025373	Interictal EEG abnormality	2746	GLUD1	ORPHA:35878
HP:0025373	Interictal EEG abnormality	3746	KCNC1	OMIM:616187
HP:0025373	Interictal EEG abnormality	55367	PIDD1	OMIM:619827
HP:0025373	Interictal EEG abnormality	93627	TBCK	ORPHA:488632
HP:0025373	Interictal EEG abnormality	2055	CLN8	ORPHA:1947
HP:0025373	Interictal EEG abnormality	8659	ALDH4A1	ORPHA:79101
HP:0025373	Interictal EEG abnormality	5290	PIK3CA	ORPHA:99802
HP:0025373	Interictal EEG abnormality	2475	MTOR	ORPHA:99802
HP:0025373	Interictal EEG abnormality	10000	AKT3	ORPHA:99802
HP:0025373	Interictal EEG abnormality	2896	GRN	OMIM:614706
HP:0025373	Interictal EEG abnormality	7030	TFE3	OMIM:301066
HP:0025373	Interictal EEG abnormality	23229	ARHGEF9	ORPHA:163985
HP:0025373	Interictal EEG abnormality	23096	IQSEC2	ORPHA:217377
HP:0025373	Interictal EEG abnormality	10815	CPLX1	ORPHA:352582
HP:0025373	Interictal EEG abnormality	80036	TRPM3	OMIM:620224
HP:0025373	Interictal EEG abnormality	6134	RPL10	ORPHA:459070
HP:0025373	Interictal EEG abnormality	81603	TRIM8	OMIM:619428
HP:0025373	Interictal EEG abnormality	23102	TBC1D2B	OMIM:619323
HP:0025376	Hyperglutaminuria	51601	LIPT1	OMIM:616299
HP:0025379	Anti-thyroid peroxidase antibody positivity	100	ADA	ORPHA:277
HP:0025379	Anti-thyroid peroxidase antibody positivity	51371	POMP	OMIM:618048
HP:0025379	Anti-thyroid peroxidase antibody positivity	4791	NFKB2	OMIM:615577
HP:0025379	Anti-thyroid peroxidase antibody positivity	7253	TSHR	OMIM:609152
HP:0025379	Anti-thyroid peroxidase antibody positivity	50943	FOXP3	ORPHA:37042
HP:0025379	Anti-thyroid peroxidase antibody positivity	169792	GLIS3	OMIM:610199
HP:0025379	Anti-thyroid peroxidase antibody positivity	10125	RASGRP1	OMIM:618534
HP:0025379	Anti-thyroid peroxidase antibody positivity	7068	THRB	OMIM:274300
HP:0025379	Anti-thyroid peroxidase antibody positivity	83737	ITCH	ORPHA:228426
HP:0025380	Increased circulating androstenedione concentration	2908	NR3C1	OMIM:615962
HP:0025380	Increased circulating androstenedione concentration	54361	WNT4	OMIM:158330
HP:0025380	Increased circulating androstenedione concentration	3284	HSD3B2	ORPHA:90791
HP:0025380	Increased circulating androstenedione concentration	1584	CYP11B1	OMIM:202010
HP:0025380	Increased circulating androstenedione concentration	1584	CYP11B1	ORPHA:90795
HP:0025380	Increased circulating androstenedione concentration	84133	ZNRF3	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	7157	TP53	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	5573	PRKAR1A	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	1499	CTNNB1	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	1029	CDKN2A	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	7015	TERT	ORPHA:1501
HP:0025383	Dorsocervical fat pad	5566	PRKACA	OMIM:615830
HP:0025383	Dorsocervical fat pad	5566	PRKACA	ORPHA:189439
HP:0025383	Dorsocervical fat pad	79798	ARMC5	ORPHA:189427
HP:0025383	Dorsocervical fat pad	2778	GNAS	ORPHA:189427
HP:0025383	Dorsocervical fat pad	8622	PDE8B	ORPHA:189439
HP:0025383	Dorsocervical fat pad	5573	PRKAR1A	ORPHA:189439
HP:0025383	Dorsocervical fat pad	5573	PRKAR1A	ORPHA:1359
HP:0025383	Dorsocervical fat pad	50940	PDE11A	ORPHA:189439
HP:0025383	Dorsocervical fat pad	50940	PDE11A	ORPHA:1359
HP:0025383	Dorsocervical fat pad	7840	ALMS1	ORPHA:64
HP:0025383	Dorsocervical fat pad	84196	USP48	ORPHA:96253
HP:0025383	Dorsocervical fat pad	7157	TP53	ORPHA:96253
HP:0025383	Dorsocervical fat pad	9101	USP8	ORPHA:96253
HP:0025383	Dorsocervical fat pad	64072	CDH23	ORPHA:96253
HP:0025383	Dorsocervical fat pad	2908	NR3C1	ORPHA:96253
HP:0025383	Dorsocervical fat pad	673	BRAF	ORPHA:96253
HP:0025383	Dorsocervical fat pad	546	ATRX	ORPHA:96253
HP:0025383	Dorsocervical fat pad	93587	TRMT10A	ORPHA:391408
HP:0025383	Dorsocervical fat pad	93587	TRMT10A	OMIM:616033
HP:0025383	Dorsocervical fat pad	84919	PPP1R15B	ORPHA:391408
HP:0025386	Bitemporal hollowing	55770	EXOC2	OMIM:619306
HP:0025386	Bitemporal hollowing	6711	SPTBN1	OMIM:619475
HP:0025387	Pill-rolling tremor	6792	CDKL5	ORPHA:3095
HP:0025387	Pill-rolling tremor	22854	NTNG1	ORPHA:3095
HP:0025387	Pill-rolling tremor	9568	GABBR2	ORPHA:3095
HP:0025387	Pill-rolling tremor	4204	MECP2	ORPHA:3095
HP:0025387	Pill-rolling tremor	8243	SMC1A	ORPHA:3095
HP:0025387	Pill-rolling tremor	8398	PLA2G6	OMIM:612953
HP:0025387	Pill-rolling tremor	9829	DNAJC6	OMIM:615528
HP:0025388	Thyroid nodule	23405	DICER1	OMIM:180295
HP:0025388	Thyroid nodule	324	APC	ORPHA:247806
HP:0025388	Thyroid nodule	324	APC	ORPHA:79665
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7015	TERT	OMIM:614742
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7015	TERT	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	729238	SFTPA2	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	79991	STN1	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1832	DSP	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	727897	MUC5B	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	10144	FAM13A	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	23250	ATP11A	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	91039	DPP9	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	51750	RTEL1	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7012	TERC	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	5073	PARN	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1438	CSF2RA	ORPHA:264675
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	3123	HLA-DRB1	ORPHA:747
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1281	COL3A1	OMIM:130050
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	427	ASAH1	ORPHA:333
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	3115	HLA-DPB1	ORPHA:133
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	21	ABCA3	OMIM:610921
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7080	NKX2-1	OMIM:610978
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	6439	SFTPB	OMIM:265120
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	659	BMPR2	OMIM:265450
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	440275	EIF2AK4	ORPHA:199241
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1439	CSF2RB	OMIM:614370
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	10568	SLC34A2	ORPHA:60025
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	653509	SFTPA1	OMIM:619611
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	6440	SFTPC	OMIM:610913
HP:0025390	Reticular pattern on pulmonary HRCT	7015	TERT	OMIM:614742
HP:0025390	Reticular pattern on pulmonary HRCT	7015	TERT	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	6440	SFTPC	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	729238	SFTPA2	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	79991	STN1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	653509	SFTPA1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	21	ABCA3	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025390	Reticular pattern on pulmonary HRCT	1832	DSP	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	727897	MUC5B	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	10144	FAM13A	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	23250	ATP11A	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	91039	DPP9	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	51750	RTEL1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	7012	TERC	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	5073	PARN	ORPHA:2032
HP:0025391	Crazy paving pattern	1439	CSF2RB	ORPHA:264675
HP:0025391	Crazy paving pattern	1438	CSF2RA	ORPHA:264675
HP:0025391	Crazy paving pattern	3123	HLA-DRB1	ORPHA:747
HP:0025391	Crazy paving pattern	21	ABCA3	OMIM:610921
HP:0025392	Nodular pattern on pulmonary HRCT	1281	COL3A1	OMIM:130050
HP:0025392	Nodular pattern on pulmonary HRCT	427	ASAH1	ORPHA:333
HP:0025392	Nodular pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025393	Reticulonodular pattern on pulmonary HRCT	3115	HLA-DPB1	ORPHA:133
HP:0025394	Cystic pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025394	Cystic pattern on pulmonary HRCT	7080	NKX2-1	OMIM:610978
HP:0025394	Cystic pattern on pulmonary HRCT	6440	SFTPC	OMIM:610913
HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1281	COL3A1	OMIM:130050
HP:0041042	Absent neutrophil lactoferrin	1053	CEBPE	OMIM:245480
HP:0041043	Neutrophil nuclear clefts	1053	CEBPE	OMIM:245480
HP:0041044	Low neutrophil alkaline phosphatase	1053	CEBPE	OMIM:245480
HP:0041045	Increased neutrophil mitochondria	1053	CEBPE	OMIM:245480
HP:0041046	Increased neutrophil ribosomes	1053	CEBPE	OMIM:245480
HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	10026	PIGK	OMIM:618879
HP:0041050	Renal tubular cyst	22909	FAN1	OMIM:614817
HP:0041058	Chronic decreased circulating IgG4	1380	CR2	OMIM:614699
HP:0041059	Chronic (near) absent circulating IgG4	1380	CR2	OMIM:614699
HP:0041063	Chronic decreased cirulating IgG2	917	CD3G	OMIM:615607
HP:0041068	Chronic decreased circulating IgG1	7737	RNF113A	OMIM:300953
HP:0041068	Chronic decreased circulating IgG1	1380	CR2	OMIM:614699
HP:0041070	Chronic partially decreased circulating IgG1	1380	CR2	OMIM:614699
HP:0041076	Abnormal immunoglobulin level in body fluid	6651	SON	ORPHA:500150
HP:0041078	Decreased immunoglobulin level in body fluid	6651	SON	ORPHA:500150
HP:0041080	Abnormal proportion of exhausted T cells	399	RHOH	OMIM:618307
HP:0041093	Beau's lines	5189	PEX1	OMIM:234580
HP:0041093	Beau's lines	5190	PEX6	OMIM:616617
HP:0012700	Abnormal large intestine physiology	2261	FGFR3	OMIM:616482
HP:0012700	Abnormal large intestine physiology	23259	DDHD2	OMIM:615033
HP:0012700	Abnormal large intestine physiology	23446	SLC44A1	OMIM:618868
HP:0012700	Abnormal large intestine physiology	4001	LMNB1	OMIM:169500
HP:0012700	Abnormal large intestine physiology	81839	VANGL1	ORPHA:3027
HP:0012700	Abnormal large intestine physiology	80199	FUZ	ORPHA:3027
HP:0012700	Abnormal large intestine physiology	9839	ZEB2	ORPHA:261537
HP:0012700	Abnormal large intestine physiology	9839	ZEB2	ORPHA:261552
HP:0012700	Abnormal large intestine physiology	23503	ZFYVE26	OMIM:270700
HP:0012700	Abnormal large intestine physiology	5354	PLP1	ORPHA:99015
HP:0012700	Abnormal large intestine physiology	10479	SLC9A6	OMIM:300243
HP:0012700	Abnormal large intestine physiology	613	BCR	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	1399	CRKL	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	5594	MAPK1	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	79152	FA2H	ORPHA:171629
HP:0012700	Abnormal large intestine physiology	5610	EIF2AK2	OMIM:618877
HP:0012700	Abnormal large intestine physiology	6299	SALL1	ORPHA:857
HP:0012700	Abnormal large intestine physiology	51339	DACT1	ORPHA:857
HP:0012700	Abnormal large intestine physiology	6904	TBCD	ORPHA:496641
HP:0012700	Abnormal large intestine physiology	6904	TBCD	OMIM:617193
HP:0012700	Abnormal large intestine physiology	410	ARSA	ORPHA:309271
HP:0012700	Abnormal large intestine physiology	5660	PSAP	ORPHA:309271
HP:0012700	Abnormal large intestine physiology	28982	FLVCR1	ORPHA:88628
HP:0012700	Abnormal large intestine physiology	339855	KY	OMIM:617114
HP:0012700	Abnormal large intestine physiology	215	ABCD1	ORPHA:139399
HP:0012700	Abnormal large intestine physiology	215	ABCD1	OMIM:300100
HP:0012700	Abnormal large intestine physiology	7415	VCP	ORPHA:329478
HP:0012700	Abnormal large intestine physiology	1312	COMT	ORPHA:567
HP:0012700	Abnormal large intestine physiology	221037	JMJD1C	ORPHA:567
HP:0012700	Abnormal large intestine physiology	2812	GP1BB	ORPHA:567
HP:0012700	Abnormal large intestine physiology	6239	RREB1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	6899	TBX1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	7290	HIRA	ORPHA:567
HP:0012700	Abnormal large intestine physiology	9632	SEC24C	ORPHA:567
HP:0012700	Abnormal large intestine physiology	7353	UFD1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	421	ARVCF	ORPHA:567
HP:0012700	Abnormal large intestine physiology	8626	TP63	ORPHA:93930
HP:0012700	Abnormal large intestine physiology	3670	ISL1	ORPHA:93930
HP:0012700	Abnormal large intestine physiology	2332	FMR1	ORPHA:93256
HP:0012700	Abnormal large intestine physiology	2332	FMR1	OMIM:300623
HP:0012700	Abnormal large intestine physiology	25778	DSTYK	ORPHA:101003
HP:0012700	Abnormal large intestine physiology	6253	RTN2	ORPHA:100993
HP:0012700	Abnormal large intestine physiology	51271	UBAP1	ORPHA:100993
HP:0012700	Abnormal large intestine physiology	5654	HTRA1	OMIM:600142
HP:0012700	Abnormal large intestine physiology	80217	CFAP43	OMIM:236690
HP:0012700	Abnormal large intestine physiology	6329	SCN4A	ORPHA:682
HP:0012700	Abnormal large intestine physiology	23400	ATP13A2	ORPHA:306674
HP:0012700	Abnormal large intestine physiology	9860	LRIG2	ORPHA:2704
HP:0012700	Abnormal large intestine physiology	60495	HPSE2	ORPHA:2704
HP:0012700	Abnormal large intestine physiology	10528	NOP56	ORPHA:276198
HP:0012700	Abnormal large intestine physiology	2859	GPR35	ORPHA:171
HP:0012700	Abnormal large intestine physiology	10507	SEMA4D	ORPHA:171
HP:0012700	Abnormal large intestine physiology	4485	MST1	ORPHA:171
HP:0012700	Abnormal large intestine physiology	6925	TCF4	ORPHA:171
HP:0012700	Abnormal large intestine physiology	1616	DAXX	ORPHA:100075
HP:0012700	Abnormal large intestine physiology	546	ATRX	ORPHA:100075
HP:0012700	Abnormal large intestine physiology	2717	GLA	OMIM:301500
HP:0012700	Abnormal large intestine physiology	1760	DMPK	ORPHA:589821
HP:0012700	Abnormal large intestine physiology	23162	MAPK8IP3	OMIM:618443
HP:0012700	Abnormal large intestine physiology	2132	EXT2	OMIM:616682
HP:0012701	Bowel urgency	25778	DSTYK	ORPHA:101003
HP:0012701	Bowel urgency	1616	DAXX	ORPHA:100075
HP:0012701	Bowel urgency	546	ATRX	ORPHA:100075
HP:0012702	Tenesmus	2717	GLA	OMIM:301500
HP:0012703	Abnormal subarachnoid space morphology	94	ACVRL1	OMIM:600376
HP:0012703	Abnormal subarachnoid space morphology	94	ACVRL1	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	2658	GDF2	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	4089	SMAD4	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	4089	SMAD4	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	OMIM:187300
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	2548	GAA	OMIM:232300
HP:0012703	Abnormal subarachnoid space morphology	4088	SMAD3	OMIM:613795
HP:0012703	Abnormal subarachnoid space morphology	4088	SMAD3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	5921	RASA1	ORPHA:90307
HP:0012703	Abnormal subarachnoid space morphology	2159	F10	ORPHA:328
HP:0012703	Abnormal subarachnoid space morphology	351	APP	OMIM:605714
HP:0012703	Abnormal subarachnoid space morphology	81704	DOCK8	OMIM:243700
HP:0012703	Abnormal subarachnoid space morphology	6786	STIM1	OMIM:185070
HP:0012703	Abnormal subarachnoid space morphology	55901	THSD1	OMIM:618734
HP:0012703	Abnormal subarachnoid space morphology	55901	THSD1	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	4629	MYH11	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7046	TGFBR1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7048	TGFBR2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4015	LOX	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4087	SMAD2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7043	TGFB3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7042	TGFB2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2200	FBN1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	59	ACTA2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	5592	PRKG1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2301	FOXE3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4144	MAT2A	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	23493	HEY2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	8076	MFAP5	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4638	MYLK	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2006	ELN	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2811	GP1BA	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	2812	GP1BB	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3674	ITGA2B	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3673	ITGA2	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	135228	CD109	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3690	ITGB3	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	7049	TGFBR3	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	1281	COL3A1	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	83854	ANGPTL6	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	8831	SYNGAP1	ORPHA:544254
HP:0012703	Abnormal subarachnoid space morphology	2639	GCDH	ORPHA:25
HP:0012703	Abnormal subarachnoid space morphology	9131	AIFM1	OMIM:300232
HP:0012703	Abnormal subarachnoid space morphology	51241	COX16	OMIM:619355
HP:0012703	Abnormal subarachnoid space morphology	23250	ATP11A	OMIM:619851
HP:0012703	Abnormal subarachnoid space morphology	284098	PIGW	OMIM:616025
HP:0012703	Abnormal subarachnoid space morphology	9197	SLC33A1	OMIM:614482
HP:0012703	Abnormal subarachnoid space morphology	26128	KIFBP	OMIM:609460
HP:0012703	Abnormal subarachnoid space morphology	51322	WAC	ORPHA:466950
HP:0012703	Abnormal subarachnoid space morphology	9526	MPDU1	ORPHA:79323
HP:0012703	Abnormal subarachnoid space morphology	501	ALDH7A1	ORPHA:3006
HP:0012703	Abnormal subarachnoid space morphology	11212	PLPBP	ORPHA:3006
HP:0012703	Abnormal subarachnoid space morphology	85365	ALG2	ORPHA:79326
HP:0012703	Abnormal subarachnoid space morphology	79796	ALG9	ORPHA:79328
HP:0012703	Abnormal subarachnoid space morphology	191	AHCY	ORPHA:88618
HP:0012703	Abnormal subarachnoid space morphology	440138	ALG11	ORPHA:280071
HP:0012703	Abnormal subarachnoid space morphology	1523	CUX1	OMIM:618330
HP:0012703	Abnormal subarachnoid space morphology	1841	DTYMK	OMIM:619847
HP:0012703	Abnormal subarachnoid space morphology	4552	MTRR	ORPHA:2169
HP:0012703	Abnormal subarachnoid space morphology	10352	WARS2	ORPHA:572798
HP:0012703	Abnormal subarachnoid space morphology	6638	SNRPN	ORPHA:177907
HP:0012703	Abnormal subarachnoid space morphology	2902	GRIN1	ORPHA:208447
HP:0012703	Abnormal subarachnoid space morphology	1759	DNM1	OMIM:620352
HP:0012703	Abnormal subarachnoid space morphology	283989	TSEN54	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	116461	TSEN15	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	79042	TSEN34	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	80746	TSEN2	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	51091	SEPSECS	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	64802	NMNAT1	OMIM:619260
HP:0012703	Abnormal subarachnoid space morphology	1107	CHD3	OMIM:618205
HP:0012703	Abnormal subarachnoid space morphology	4558	MT-TF	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4572	MT-TQ	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4512	MT-CO1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4513	MT-CO2	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4514	MT-CO3	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4578	MT-TW	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4540	MT-ND5	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4541	MT-ND6	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4535	MT-ND1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4538	MT-ND4	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4567	MT-TL1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4574	MT-TS1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4575	MT-TS2	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4564	MT-TH	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4677	NARS1	OMIM:619092
HP:0012703	Abnormal subarachnoid space morphology	79989	IFT56	OMIM:619534
HP:0012703	Abnormal subarachnoid space morphology	79087	ALG12	ORPHA:79324
HP:0012703	Abnormal subarachnoid space morphology	3417	IDH1	ORPHA:99646
HP:0012703	Abnormal subarachnoid space morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012703	Abnormal subarachnoid space morphology	3897	L1CAM	OMIM:304100
HP:0012703	Abnormal subarachnoid space morphology	23007	PLCH1	OMIM:619895
HP:0012703	Abnormal subarachnoid space morphology	4123	MAN2C1	OMIM:619775
HP:0012703	Abnormal subarachnoid space morphology	1630	DCC	OMIM:617542
HP:0012703	Abnormal subarachnoid space morphology	84823	LMNB2	OMIM:616540
HP:0012703	Abnormal subarachnoid space morphology	1000	CDH2	OMIM:618929
HP:0012703	Abnormal subarachnoid space morphology	4361	MRE11	ORPHA:251347
HP:0012704	Widened subarachnoid space	2639	GCDH	ORPHA:25
HP:0012704	Widened subarachnoid space	9131	AIFM1	OMIM:300232
HP:0012704	Widened subarachnoid space	51241	COX16	OMIM:619355
HP:0012704	Widened subarachnoid space	23250	ATP11A	OMIM:619851
HP:0012704	Widened subarachnoid space	284098	PIGW	OMIM:616025
HP:0012704	Widened subarachnoid space	9197	SLC33A1	OMIM:614482
HP:0012704	Widened subarachnoid space	26128	KIFBP	OMIM:609460
HP:0012704	Widened subarachnoid space	51322	WAC	ORPHA:466950
HP:0012704	Widened subarachnoid space	9526	MPDU1	ORPHA:79323
HP:0012704	Widened subarachnoid space	501	ALDH7A1	ORPHA:3006
HP:0012704	Widened subarachnoid space	11212	PLPBP	ORPHA:3006
HP:0012704	Widened subarachnoid space	85365	ALG2	ORPHA:79326
HP:0012704	Widened subarachnoid space	79796	ALG9	ORPHA:79328
HP:0012704	Widened subarachnoid space	191	AHCY	ORPHA:88618
HP:0012704	Widened subarachnoid space	440138	ALG11	ORPHA:280071
HP:0012704	Widened subarachnoid space	1523	CUX1	OMIM:618330
HP:0012704	Widened subarachnoid space	1841	DTYMK	OMIM:619847
HP:0012704	Widened subarachnoid space	4552	MTRR	ORPHA:2169
HP:0012704	Widened subarachnoid space	10352	WARS2	ORPHA:572798
HP:0012704	Widened subarachnoid space	6638	SNRPN	ORPHA:177907
HP:0012704	Widened subarachnoid space	2902	GRIN1	ORPHA:208447
HP:0012704	Widened subarachnoid space	1759	DNM1	OMIM:620352
HP:0012704	Widened subarachnoid space	283989	TSEN54	ORPHA:2524
HP:0012704	Widened subarachnoid space	116461	TSEN15	ORPHA:2524
HP:0012704	Widened subarachnoid space	79042	TSEN34	ORPHA:2524
HP:0012704	Widened subarachnoid space	80746	TSEN2	ORPHA:2524
HP:0012704	Widened subarachnoid space	51091	SEPSECS	ORPHA:2524
HP:0012704	Widened subarachnoid space	64802	NMNAT1	OMIM:619260
HP:0012704	Widened subarachnoid space	1107	CHD3	OMIM:618205
HP:0012704	Widened subarachnoid space	4558	MT-TF	ORPHA:550
HP:0012704	Widened subarachnoid space	4572	MT-TQ	ORPHA:550
HP:0012704	Widened subarachnoid space	4512	MT-CO1	ORPHA:550
HP:0012704	Widened subarachnoid space	4513	MT-CO2	ORPHA:550
HP:0012704	Widened subarachnoid space	4514	MT-CO3	ORPHA:550
HP:0012704	Widened subarachnoid space	4578	MT-TW	ORPHA:550
HP:0012704	Widened subarachnoid space	4540	MT-ND5	ORPHA:550
HP:0012704	Widened subarachnoid space	4541	MT-ND6	ORPHA:550
HP:0012704	Widened subarachnoid space	4535	MT-ND1	ORPHA:550
HP:0012704	Widened subarachnoid space	4538	MT-ND4	ORPHA:550
HP:0012704	Widened subarachnoid space	4567	MT-TL1	ORPHA:550
HP:0012704	Widened subarachnoid space	4574	MT-TS1	ORPHA:550
HP:0012704	Widened subarachnoid space	4575	MT-TS2	ORPHA:550
HP:0012704	Widened subarachnoid space	4564	MT-TH	ORPHA:550
HP:0012704	Widened subarachnoid space	4677	NARS1	OMIM:619092
HP:0012704	Widened subarachnoid space	79989	IFT56	OMIM:619534
HP:0012704	Widened subarachnoid space	79087	ALG12	ORPHA:79324
HP:0012704	Widened subarachnoid space	3417	IDH1	ORPHA:99646
HP:0012705	Abnormal metabolic brain imaging by MRS	38	ACAT1	ORPHA:134
HP:0012705	Abnormal metabolic brain imaging by MRS	135	ADORA2A	ORPHA:363549
HP:0012705	Abnormal metabolic brain imaging by MRS	1593	CYP27A1	ORPHA:909
HP:0012705	Abnormal metabolic brain imaging by MRS	137682	NDUFAF6	OMIM:618239
HP:0012705	Abnormal metabolic brain imaging by MRS	2917	GRM7	OMIM:618922
HP:0012705	Abnormal metabolic brain imaging by MRS	1267	CNP	OMIM:619071
HP:0012705	Abnormal metabolic brain imaging by MRS	2581	GALC	ORPHA:206436
HP:0012705	Abnormal metabolic brain imaging by MRS	5660	PSAP	ORPHA:206436
HP:0012705	Abnormal metabolic brain imaging by MRS	128240	NAXE	OMIM:617186
HP:0012705	Abnormal metabolic brain imaging by MRS	200205	IBA57	OMIM:615330
HP:0012705	Abnormal metabolic brain imaging by MRS	3735	KARS1	OMIM:619196
HP:0012705	Abnormal metabolic brain imaging by MRS	4558	MT-TF	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4572	MT-TQ	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4512	MT-CO1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4513	MT-CO2	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4514	MT-CO3	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4578	MT-TW	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4540	MT-ND5	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4541	MT-ND6	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4535	MT-ND1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4538	MT-ND4	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4567	MT-TL1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4574	MT-TS1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4575	MT-TS2	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4564	MT-TH	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	10059	DNM1L	ORPHA:330050
HP:0012705	Abnormal metabolic brain imaging by MRS	51241	COX16	OMIM:619355
HP:0012705	Abnormal metabolic brain imaging by MRS	91574	MTRFR	ORPHA:254930
HP:0012705	Abnormal metabolic brain imaging by MRS	91574	MTRFR	OMIM:613559
HP:0012705	Abnormal metabolic brain imaging by MRS	51102	MECR	ORPHA:508093
HP:0012705	Abnormal metabolic brain imaging by MRS	57128	LYRM4	OMIM:615595
HP:0012705	Abnormal metabolic brain imaging by MRS	64116	SLC39A8	OMIM:616721
HP:0012705	Abnormal metabolic brain imaging by MRS	90624	LYRM7	OMIM:615838
HP:0012705	Abnormal metabolic brain imaging by MRS	57176	VARS2	OMIM:615917
HP:0012705	Abnormal metabolic brain imaging by MRS	8802	SUCLG1	OMIM:245400
HP:0012705	Abnormal metabolic brain imaging by MRS	6390	SDHB	OMIM:619224
HP:0012705	Abnormal metabolic brain imaging by MRS	84842	HPDL	OMIM:619026
HP:0012705	Abnormal metabolic brain imaging by MRS	5442	POLRMT	OMIM:619743
HP:0012705	Abnormal metabolic brain imaging by MRS	65993	MRPS34	OMIM:617664
HP:0012705	Abnormal metabolic brain imaging by MRS	1892	ECHS1	OMIM:616277
HP:0012705	Abnormal metabolic brain imaging by MRS	58472	SQOR	OMIM:619221
HP:0012705	Abnormal metabolic brain imaging by MRS	84340	GFM2	OMIM:618397
HP:0012705	Abnormal metabolic brain imaging by MRS	27429	HTRA2	OMIM:617248
HP:0012705	Abnormal metabolic brain imaging by MRS	4713	NDUFB7	OMIM:620135
HP:0012705	Abnormal metabolic brain imaging by MRS	3028	HSD17B10	ORPHA:391428
HP:0012705	Abnormal metabolic brain imaging by MRS	55210	ATAD3A	OMIM:617183
HP:0012705	Abnormal metabolic brain imaging by MRS	339983	NAT8L	OMIM:614063
HP:0012705	Abnormal metabolic brain imaging by MRS	8913	CACNA1G	ORPHA:458803
HP:0012705	Abnormal metabolic brain imaging by MRS	644096	SDHAF1	OMIM:619166
HP:0012705	Abnormal metabolic brain imaging by MRS	6392	SDHD	OMIM:619167
HP:0012705	Abnormal metabolic brain imaging by MRS	23219	FBXO28	OMIM:619777
HP:0012705	Abnormal metabolic brain imaging by MRS	93627	TBCK	OMIM:616900
HP:0012705	Abnormal metabolic brain imaging by MRS	8604	SLC25A12	OMIM:612949
HP:0012705	Abnormal metabolic brain imaging by MRS	84342	COG8	OMIM:611182
HP:0012705	Abnormal metabolic brain imaging by MRS	25915	NDUFAF3	ORPHA:70474
HP:0012705	Abnormal metabolic brain imaging by MRS	4714	NDUFB8	ORPHA:70474
HP:0012705	Abnormal metabolic brain imaging by MRS	4720	NDUFS2	ORPHA:70474
HP:0012705	Abnormal metabolic brain imaging by MRS	9997	SCO2	ORPHA:70474
HP:0012705	Abnormal metabolic brain imaging by MRS	6834	SURF1	ORPHA:70474
HP:0012705	Abnormal metabolic brain imaging by MRS	6535	SLC6A8	OMIM:300352
HP:0012705	Abnormal metabolic brain imaging by MRS	2593	GAMT	OMIM:612736
HP:0012705	Abnormal metabolic brain imaging by MRS	2628	GATM	OMIM:612718
HP:0012705	Abnormal metabolic brain imaging by MRS	7355	SLC35A2	ORPHA:356961
HP:0012705	Abnormal metabolic brain imaging by MRS	443	ASPA	OMIM:271900
HP:0012705	Abnormal metabolic brain imaging by MRS	443	ASPA	ORPHA:314911
HP:0012705	Abnormal metabolic brain imaging by MRS	10667	FARS2	OMIM:614946
HP:0012705	Abnormal metabolic brain imaging by MRS	54914	FOCAD	OMIM:619991
HP:0012705	Abnormal metabolic brain imaging by MRS	55768	NGLY1	OMIM:615273
HP:0012705	Abnormal metabolic brain imaging by MRS	11128	POLR3A	ORPHA:447896
HP:0012706	Elevated brain choline level by MRS	1593	CYP27A1	ORPHA:909
HP:0012706	Elevated brain choline level by MRS	137682	NDUFAF6	OMIM:618239
HP:0012706	Elevated brain choline level by MRS	2917	GRM7	OMIM:618922
HP:0012706	Elevated brain choline level by MRS	1267	CNP	OMIM:619071
HP:0012706	Elevated brain choline level by MRS	55768	NGLY1	OMIM:615273
HP:0012706	Elevated brain choline level by MRS	2581	GALC	ORPHA:206436
HP:0012706	Elevated brain choline level by MRS	5660	PSAP	ORPHA:206436
HP:0012706	Elevated brain choline level by MRS	128240	NAXE	OMIM:617186
HP:0012706	Elevated brain choline level by MRS	200205	IBA57	OMIM:615330
HP:0012707	Elevated brain lactate level by MRS	3735	KARS1	OMIM:619196
HP:0012707	Elevated brain lactate level by MRS	4558	MT-TF	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4572	MT-TQ	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4512	MT-CO1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4513	MT-CO2	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4514	MT-CO3	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4578	MT-TW	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4540	MT-ND5	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4541	MT-ND6	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4535	MT-ND1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4538	MT-ND4	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4567	MT-TL1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4574	MT-TS1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4575	MT-TS2	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4564	MT-TH	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	10059	DNM1L	ORPHA:330050
HP:0012707	Elevated brain lactate level by MRS	51241	COX16	OMIM:619355
HP:0012707	Elevated brain lactate level by MRS	91574	MTRFR	ORPHA:254930
HP:0012707	Elevated brain lactate level by MRS	91574	MTRFR	OMIM:613559
HP:0012707	Elevated brain lactate level by MRS	51102	MECR	ORPHA:508093
HP:0012707	Elevated brain lactate level by MRS	57128	LYRM4	OMIM:615595
HP:0012707	Elevated brain lactate level by MRS	1593	CYP27A1	ORPHA:909
HP:0012707	Elevated brain lactate level by MRS	64116	SLC39A8	OMIM:616721
HP:0012707	Elevated brain lactate level by MRS	90624	LYRM7	OMIM:615838
HP:0012707	Elevated brain lactate level by MRS	10667	FARS2	OMIM:614946
HP:0012707	Elevated brain lactate level by MRS	57176	VARS2	OMIM:615917
HP:0012707	Elevated brain lactate level by MRS	25915	NDUFAF3	ORPHA:70474
HP:0012707	Elevated brain lactate level by MRS	4714	NDUFB8	ORPHA:70474
HP:0012707	Elevated brain lactate level by MRS	4720	NDUFS2	ORPHA:70474
HP:0012707	Elevated brain lactate level by MRS	9997	SCO2	ORPHA:70474
HP:0012707	Elevated brain lactate level by MRS	6834	SURF1	ORPHA:70474
HP:0012707	Elevated brain lactate level by MRS	8802	SUCLG1	OMIM:245400
HP:0012707	Elevated brain lactate level by MRS	6390	SDHB	OMIM:619224
HP:0012707	Elevated brain lactate level by MRS	84842	HPDL	OMIM:619026
HP:0012707	Elevated brain lactate level by MRS	5442	POLRMT	OMIM:619743
HP:0012707	Elevated brain lactate level by MRS	65993	MRPS34	OMIM:617664
HP:0012707	Elevated brain lactate level by MRS	1892	ECHS1	OMIM:616277
HP:0012707	Elevated brain lactate level by MRS	58472	SQOR	OMIM:619221
HP:0012707	Elevated brain lactate level by MRS	84340	GFM2	OMIM:618397
HP:0012707	Elevated brain lactate level by MRS	27429	HTRA2	OMIM:617248
HP:0012707	Elevated brain lactate level by MRS	137682	NDUFAF6	OMIM:618239
HP:0012707	Elevated brain lactate level by MRS	4713	NDUFB7	OMIM:620135
HP:0012707	Elevated brain lactate level by MRS	3028	HSD17B10	ORPHA:391428
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	55210	ATAD3A	OMIM:617183
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1267	CNP	OMIM:619071
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	55768	NGLY1	OMIM:615273
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	339983	NAT8L	OMIM:614063
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	8913	CACNA1G	ORPHA:458803
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	644096	SDHAF1	OMIM:619166
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	6392	SDHD	OMIM:619167
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	84340	GFM2	OMIM:618397
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	23219	FBXO28	OMIM:619777
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	93627	TBCK	OMIM:616900
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2917	GRM7	OMIM:618922
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	4713	NDUFB7	OMIM:620135
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2581	GALC	ORPHA:206436
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	5660	PSAP	ORPHA:206436
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	8604	SLC25A12	OMIM:612949
HP:0012712	Mild hearing impairment	5238	PGM3	ORPHA:443811
HP:0012712	Mild hearing impairment	9927	MFN2	OMIM:601152
HP:0012712	Mild hearing impairment	1513	CTSK	ORPHA:763
HP:0012712	Mild hearing impairment	9968	MED12	OMIM:301068
HP:0012712	Mild hearing impairment	1801	DPH1	ORPHA:459061
HP:0012712	Mild hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012714	Severe hearing impairment	10804	GJB6	ORPHA:477
HP:0012714	Severe hearing impairment	2706	GJB2	ORPHA:477
HP:0012714	Severe hearing impairment	7840	ALMS1	ORPHA:64
HP:0012714	Severe hearing impairment	29899	GPSM2	OMIM:604213
HP:0012714	Severe hearing impairment	11078	TRIOBP	OMIM:609823
HP:0012714	Severe hearing impairment	30813	VSX1	OMIM:614195
HP:0012714	Severe hearing impairment	7084	TK2	ORPHA:254875
HP:0012714	Severe hearing impairment	22856	CHSY1	ORPHA:363417
HP:0012714	Severe hearing impairment	8085	KMT2D	OMIM:620186
HP:0012714	Severe hearing impairment	526	ATP6V1B2	ORPHA:79499
HP:0012714	Severe hearing impairment	5781	PTPN11	ORPHA:500
HP:0012714	Severe hearing impairment	673	BRAF	ORPHA:500
HP:0012714	Severe hearing impairment	5894	RAF1	ORPHA:500
HP:0012714	Severe hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012715	Profound hearing impairment	5962	RDX	OMIM:611022
HP:0012715	Profound hearing impairment	3735	KARS1	OMIM:619196
HP:0012715	Profound hearing impairment	10518	CIB2	OMIM:609439
HP:0012715	Profound hearing impairment	5376	PMP22	ORPHA:90658
HP:0012715	Profound hearing impairment	3753	KCNE1	ORPHA:90647
HP:0012715	Profound hearing impairment	3784	KCNQ1	ORPHA:90647
HP:0012715	Profound hearing impairment	5631	PRPS1	ORPHA:1187
HP:0012715	Profound hearing impairment	6558	SLC12A2	OMIM:619081
HP:0012715	Profound hearing impairment	51168	MYO15A	OMIM:600316
HP:0012715	Profound hearing impairment	2248	FGF3	OMIM:610706
HP:0012715	Profound hearing impairment	8565	YARS1	OMIM:619418
HP:0012715	Profound hearing impairment	2059	EPS8	OMIM:615974
HP:0012717	Severe conductive hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012718	Morphological abnormality of the gastrointestinal tract	84172	POLR1B	ORPHA:861
HP:0012718	Morphological abnormality of the gastrointestinal tract	9533	POLR1C	ORPHA:861
HP:0012718	Morphological abnormality of the gastrointestinal tract	51082	POLR1D	ORPHA:861
HP:0012718	Morphological abnormality of the gastrointestinal tract	6949	TCOF1	ORPHA:861
HP:0012718	Morphological abnormality of the gastrointestinal tract	1642	DDB1	OMIM:619426
HP:0012718	Morphological abnormality of the gastrointestinal tract	3718	JAK3	ORPHA:35078
HP:0012718	Morphological abnormality of the gastrointestinal tract	7450	VWF	OMIM:193400
HP:0012718	Morphological abnormality of the gastrointestinal tract	10128	LRPPRC	OMIM:220111
HP:0012718	Morphological abnormality of the gastrointestinal tract	9791	PTDSS1	OMIM:151050
HP:0012718	Morphological abnormality of the gastrointestinal tract	5447	POR	OMIM:201750
HP:0012718	Morphological abnormality of the gastrointestinal tract	5447	POR	ORPHA:95699
HP:0012718	Morphological abnormality of the gastrointestinal tract	23512	SUZ12	OMIM:618786
HP:0012718	Morphological abnormality of the gastrointestinal tract	29957	SLC25A24	OMIM:612289
HP:0012718	Morphological abnormality of the gastrointestinal tract	22800	RRAS2	OMIM:618624
HP:0012718	Morphological abnormality of the gastrointestinal tract	1857	DVL3	OMIM:616894
HP:0012718	Morphological abnormality of the gastrointestinal tract	8942	KYNU	OMIM:617661
HP:0012718	Morphological abnormality of the gastrointestinal tract	1108	CHD4	OMIM:617159
HP:0012718	Morphological abnormality of the gastrointestinal tract	157570	ESCO2	ORPHA:2319
HP:0012718	Morphological abnormality of the gastrointestinal tract	157570	ESCO2	OMIM:216100
HP:0012718	Morphological abnormality of the gastrointestinal tract	1656	DDX6	OMIM:618653
HP:0012718	Morphological abnormality of the gastrointestinal tract	1822	ATN1	OMIM:618494
HP:0012718	Morphological abnormality of the gastrointestinal tract	26005	C2CD3	OMIM:615948
HP:0012718	Morphological abnormality of the gastrointestinal tract	23476	BRD4	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	9126	SMC3	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	8243	SMC1A	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	25836	NIPBL	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	25836	NIPBL	OMIM:122470
HP:0012718	Morphological abnormality of the gastrointestinal tract	55869	HDAC8	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	5885	RAD21	ORPHA:199
HP:0012718	Morphological abnormality of the gastrointestinal tract	375	ARF1	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	4131	MAP1B	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	23327	NEDD4L	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	160418	TMTC3	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	10564	ARFGEF2	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	55780	ERMARD	ORPHA:98892
HP:0012718	Morphological abnormality of the gastrointestinal tract	1859	DYRK1A	ORPHA:268261
HP:0012718	Morphological abnormality of the gastrointestinal tract	91754	NEK9	OMIM:614262
HP:0012718	Morphological abnormality of the gastrointestinal tract	8425	LTBP4	OMIM:613177
HP:0012718	Morphological abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:617137
HP:0012718	Morphological abnormality of the gastrointestinal tract	4744	NEFH	OMIM:616924
HP:0012718	Morphological abnormality of the gastrointestinal tract	9759	HDAC4	ORPHA:1001
HP:0012718	Morphological abnormality of the gastrointestinal tract	5590	PRKCZ	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	2563	GABRD	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	23013	SPEN	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	8510	MMP23B	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	7798	LUZP1	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	6497	SKI	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	10630	PDPN	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	3339	HSPG2	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	10277	UBE4B	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	8514	KCNAB2	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	473	RERE	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	63976	PRDM16	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	54897	CASZ1	ORPHA:1606
HP:0012718	Morphological abnormality of the gastrointestinal tract	81031	SLC2A10	ORPHA:3342
HP:0012718	Morphological abnormality of the gastrointestinal tract	4534	MTM1	OMIM:310400
HP:0012718	Morphological abnormality of the gastrointestinal tract	6928	HNF1B	ORPHA:93111
HP:0012718	Morphological abnormality of the gastrointestinal tract	9839	ZEB2	OMIM:235730
HP:0012718	Morphological abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261537
HP:0012718	Morphological abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261552
HP:0012718	Morphological abnormality of the gastrointestinal tract	274	BIN1	ORPHA:169189
HP:0012718	Morphological abnormality of the gastrointestinal tract	64419	MTMR14	ORPHA:169189
HP:0012718	Morphological abnormality of the gastrointestinal tract	4618	MYF6	ORPHA:169189
HP:0012718	Morphological abnormality of the gastrointestinal tract	1785	DNM2	ORPHA:169189
HP:0012718	Morphological abnormality of the gastrointestinal tract	6261	RYR1	ORPHA:169189
HP:0012718	Morphological abnormality of the gastrointestinal tract	80781	COL18A1	OMIM:267750
HP:0012718	Morphological abnormality of the gastrointestinal tract	80781	COL18A1	ORPHA:1571
HP:0012718	Morphological abnormality of the gastrointestinal tract	388015	RTL1	ORPHA:96184
HP:0012718	Morphological abnormality of the gastrointestinal tract	8788	DLK1	ORPHA:96184
HP:0012718	Morphological abnormality of the gastrointestinal tract	55384	MEG3	ORPHA:96184
HP:0012718	Morphological abnormality of the gastrointestinal tract	5009	OTC	ORPHA:664
HP:0012718	Morphological abnormality of the gastrointestinal tract	374879	ZNF699	OMIM:619488
HP:0012718	Morphological abnormality of the gastrointestinal tract	613	BCR	ORPHA:261330
HP:0012718	Morphological abnormality of the gastrointestinal tract	1399	CRKL	ORPHA:261330
HP:0012718	Morphological abnormality of the gastrointestinal tract	5594	MAPK1	ORPHA:261330
HP:0012718	Morphological abnormality of the gastrointestinal tract	1723	DHODH	OMIM:263750
HP:0012718	Morphological abnormality of the gastrointestinal tract	5831	PYCR1	OMIM:614438
HP:0012718	Morphological abnormality of the gastrointestinal tract	1717	DHCR7	ORPHA:818
HP:0012718	Morphological abnormality of the gastrointestinal tract	1717	DHCR7	OMIM:270400
HP:0012718	Morphological abnormality of the gastrointestinal tract	4868	NPHS1	OMIM:256300
HP:0012718	Morphological abnormality of the gastrointestinal tract	63895	PIEZO2	OMIM:248700
HP:0012718	Morphological abnormality of the gastrointestinal tract	63895	PIEZO2	ORPHA:2461
HP:0012718	Morphological abnormality of the gastrointestinal tract	4784	NFIX	OMIM:602535
HP:0012718	Morphological abnormality of the gastrointestinal tract	5528	PPP2R5D	ORPHA:457279
HP:0012718	Morphological abnormality of the gastrointestinal tract	5528	PPP2R5D	OMIM:616355
HP:0012718	Morphological abnormality of the gastrointestinal tract	4052	LTBP1	ORPHA:90349
HP:0012718	Morphological abnormality of the gastrointestinal tract	30008	EFEMP2	ORPHA:90349
HP:0012718	Morphological abnormality of the gastrointestinal tract	10516	FBLN5	ORPHA:90349
HP:0012718	Morphological abnormality of the gastrointestinal tract	284058	KANSL1	OMIM:610443
HP:0012718	Morphological abnormality of the gastrointestinal tract	9896	FIG4	OMIM:216340
HP:0012718	Morphological abnormality of the gastrointestinal tract	9896	FIG4	ORPHA:3472
HP:0012718	Morphological abnormality of the gastrointestinal tract	7020	TFAP2A	OMIM:113620
HP:0012718	Morphological abnormality of the gastrointestinal tract	3914	LAMB3	OMIM:226700
HP:0012718	Morphological abnormality of the gastrointestinal tract	3909	LAMA3	OMIM:226700
HP:0012718	Morphological abnormality of the gastrointestinal tract	3918	LAMC2	OMIM:226700
HP:0012718	Morphological abnormality of the gastrointestinal tract	55697	VAC14	ORPHA:3472
HP:0012718	Morphological abnormality of the gastrointestinal tract	404672	GTF2H5	OMIM:616395
HP:0012718	Morphological abnormality of the gastrointestinal tract	25970	SH2B1	ORPHA:261197
HP:0012718	Morphological abnormality of the gastrointestinal tract	127833	SYT2	OMIM:619461
HP:0012718	Morphological abnormality of the gastrointestinal tract	529	ATP6V1E1	OMIM:617402
HP:0012718	Morphological abnormality of the gastrointestinal tract	5062	PAK2	OMIM:618458
HP:0012718	Morphological abnormality of the gastrointestinal tract	5062	PAK2	ORPHA:1571
HP:0012718	Morphological abnormality of the gastrointestinal tract	284119	CAVIN1	OMIM:613327
HP:0012718	Morphological abnormality of the gastrointestinal tract	3265	HRAS	OMIM:218040
HP:0012718	Morphological abnormality of the gastrointestinal tract	871	SERPINH1	OMIM:613848
HP:0012718	Morphological abnormality of the gastrointestinal tract	2313	FLI1	ORPHA:2308
HP:0012718	Morphological abnormality of the gastrointestinal tract	2737	GLI3	ORPHA:672
HP:0012718	Morphological abnormality of the gastrointestinal tract	2737	GLI3	OMIM:146510
HP:0012718	Morphological abnormality of the gastrointestinal tract	9361	LONP1	OMIM:600373
HP:0012718	Morphological abnormality of the gastrointestinal tract	2294	FOXF1	OMIM:265380
HP:0012718	Morphological abnormality of the gastrointestinal tract	2294	FOXF1	ORPHA:210122
HP:0012718	Morphological abnormality of the gastrointestinal tract	117581	TWIST2	OMIM:227260
HP:0012718	Morphological abnormality of the gastrointestinal tract	117581	TWIST2	ORPHA:1807
HP:0012718	Morphological abnormality of the gastrointestinal tract	8195	MKKS	OMIM:236700
HP:0012718	Morphological abnormality of the gastrointestinal tract	8195	MKKS	ORPHA:2473
HP:0012718	Morphological abnormality of the gastrointestinal tract	145173	B3GLCT	ORPHA:709
HP:0012718	Morphological abnormality of the gastrointestinal tract	6650	CAPN15	OMIM:619318
HP:0012718	Morphological abnormality of the gastrointestinal tract	1131	CHRM3	ORPHA:2970
HP:0012718	Morphological abnormality of the gastrointestinal tract	1131	CHRM3	OMIM:100100
HP:0012718	Morphological abnormality of the gastrointestinal tract	7473	WNT3	ORPHA:3301
HP:0012718	Morphological abnormality of the gastrointestinal tract	7473	WNT3	OMIM:273395
HP:0012718	Morphological abnormality of the gastrointestinal tract	340419	RSPO2	ORPHA:3301
HP:0012718	Morphological abnormality of the gastrointestinal tract	81839	VANGL1	ORPHA:3027
HP:0012718	Morphological abnormality of the gastrointestinal tract	80199	FUZ	ORPHA:3027
HP:0012718	Morphological abnormality of the gastrointestinal tract	10084	PQBP1	ORPHA:93950
HP:0012718	Morphological abnormality of the gastrointestinal tract	10084	PQBP1	OMIM:309500
HP:0012718	Morphological abnormality of the gastrointestinal tract	197131	UBR1	OMIM:243800
HP:0012718	Morphological abnormality of the gastrointestinal tract	197131	UBR1	ORPHA:2315
HP:0012718	Morphological abnormality of the gastrointestinal tract	267010	RNU12	OMIM:603116
HP:0012718	Morphological abnormality of the gastrointestinal tract	55112	DYNC2I1	ORPHA:93271
HP:0012718	Morphological abnormality of the gastrointestinal tract	57560	IFT80	ORPHA:93271
HP:0012718	Morphological abnormality of the gastrointestinal tract	57539	WDR35	ORPHA:93271
HP:0012718	Morphological abnormality of the gastrointestinal tract	79659	DYNC2H1	ORPHA:93271
HP:0012718	Morphological abnormality of the gastrointestinal tract	79659	DYNC2H1	OMIM:613091
HP:0012718	Morphological abnormality of the gastrointestinal tract	89891	DYNC2I2	ORPHA:93271
HP:0012718	Morphological abnormality of the gastrointestinal tract	4281	MID1	OMIM:300000
HP:0012718	Morphological abnormality of the gastrointestinal tract	4281	MID1	ORPHA:2745
HP:0012718	Morphological abnormality of the gastrointestinal tract	374654	KIF7	OMIM:200990
HP:0012718	Morphological abnormality of the gastrointestinal tract	2623	GATA1	OMIM:190685
HP:0012718	Morphological abnormality of the gastrointestinal tract	3313	HSPA9	OMIM:616854
HP:0012718	Morphological abnormality of the gastrointestinal tract	2137	EXTL3	OMIM:617425
HP:0012718	Morphological abnormality of the gastrointestinal tract	999	CDH1	OMIM:119580
HP:0012718	Morphological abnormality of the gastrointestinal tract	999	CDH1	ORPHA:1997
HP:0012718	Morphological abnormality of the gastrointestinal tract	29954	POMT2	OMIM:236670
HP:0012718	Morphological abnormality of the gastrointestinal tract	9215	LARGE1	OMIM:236670
HP:0012718	Morphological abnormality of the gastrointestinal tract	79147	FKRP	OMIM:236670
HP:0012718	Morphological abnormality of the gastrointestinal tract	10585	POMT1	OMIM:236670
HP:0012718	Morphological abnormality of the gastrointestinal tract	2218	FKTN	OMIM:236670
HP:0012718	Morphological abnormality of the gastrointestinal tract	2187	FANCB	ORPHA:3412
HP:0012718	Morphological abnormality of the gastrointestinal tract	2187	FANCB	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2187	FANCB	OMIM:314390
HP:0012718	Morphological abnormality of the gastrointestinal tract	1500	CTNND1	ORPHA:1997
HP:0012718	Morphological abnormality of the gastrointestinal tract	7547	ZIC3	OMIM:306955
HP:0012718	Morphological abnormality of the gastrointestinal tract	7547	ZIC3	OMIM:314390
HP:0012718	Morphological abnormality of the gastrointestinal tract	4072	EPCAM	ORPHA:92050
HP:0012718	Morphological abnormality of the gastrointestinal tract	105371045	PERCC1	ORPHA:92050
HP:0012718	Morphological abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:93260
HP:0012718	Morphological abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:93259
HP:0012718	Morphological abnormality of the gastrointestinal tract	9401	RECQL4	ORPHA:1225
HP:0012718	Morphological abnormality of the gastrointestinal tract	9401	RECQL4	OMIM:218600
HP:0012718	Morphological abnormality of the gastrointestinal tract	672	BRCA1	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	10459	MAD2L2	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	7516	XRCC2	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	29089	UBE2T	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	675	BRCA2	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	675	BRCA2	OMIM:605724
HP:0012718	Morphological abnormality of the gastrointestinal tract	55120	FANCL	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	55120	FANCL	OMIM:614083
HP:0012718	Morphological abnormality of the gastrointestinal tract	2177	FANCD2	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2175	FANCA	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2176	FANCC	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2178	FANCE	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2188	FANCF	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2189	FANCG	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	5888	RAD51	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	5888	RAD51	OMIM:617244
HP:0012718	Morphological abnormality of the gastrointestinal tract	55159	RFWD3	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	83990	BRIP1	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	57697	FANCM	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	79728	PALB2	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	84464	SLX4	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	2072	ERCC4	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	55215	FANCI	ORPHA:84
HP:0012718	Morphological abnormality of the gastrointestinal tract	1312	COMT	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	221037	JMJD1C	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	6239	RREB1	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	6899	TBX1	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	7290	HIRA	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	9632	SEC24C	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	7353	UFD1	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	421	ARVCF	ORPHA:567
HP:0012718	Morphological abnormality of the gastrointestinal tract	25942	SIN3A	ORPHA:94065
HP:0012718	Morphological abnormality of the gastrointestinal tract	25	ABL1	OMIM:617602
HP:0012718	Morphological abnormality of the gastrointestinal tract	23065	EMC1	OMIM:616875
HP:0012718	Morphological abnormality of the gastrointestinal tract	23065	EMC1	ORPHA:480898
HP:0012718	Morphological abnormality of the gastrointestinal tract	55012	PPP2R3C	OMIM:618419
HP:0012718	Morphological abnormality of the gastrointestinal tract	23495	TNFRSF13B	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	4790	NFKB1	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	4791	NFKB2	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	115650	TNFRSF13C	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	1380	CR2	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	8742	TNFSF12	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	5580	PRKCD	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	930	CD19	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	29851	ICOS	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	931	MS4A1	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	975	CD81	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	359948	IRF2BP2	ORPHA:1572
HP:0012718	Morphological abnormality of the gastrointestinal tract	10046	MAMLD1	ORPHA:95706
HP:0012718	Morphological abnormality of the gastrointestinal tract	367	AR	ORPHA:95706
HP:0012718	Morphological abnormality of the gastrointestinal tract	6862	TBXT	OMIM:615709
HP:0012718	Morphological abnormality of the gastrointestinal tract	4613	MYCN	ORPHA:391641
HP:0012718	Morphological abnormality of the gastrointestinal tract	8260	NAA10	OMIM:309800
HP:0012718	Morphological abnormality of the gastrointestinal tract	54880	BCOR	OMIM:309800
HP:0012718	Morphological abnormality of the gastrointestinal tract	1349	COX7B	OMIM:309801
HP:0012718	Morphological abnormality of the gastrointestinal tract	3052	HCCS	OMIM:309801
HP:0012718	Morphological abnormality of the gastrointestinal tract	54539	NDUFB11	OMIM:309801
HP:0012718	Morphological abnormality of the gastrointestinal tract	55773	TBC1D23	OMIM:617695
HP:0012718	Morphological abnormality of the gastrointestinal tract	92002	CCNQ	OMIM:300707
HP:0012718	Morphological abnormality of the gastrointestinal tract	92002	CCNQ	ORPHA:140952
HP:0012718	Morphological abnormality of the gastrointestinal tract	8239	USP9X	ORPHA:480880
HP:0012718	Morphological abnormality of the gastrointestinal tract	8239	USP9X	OMIM:300968
HP:0012718	Morphological abnormality of the gastrointestinal tract	10653	SPINT2	OMIM:270420
HP:0012718	Morphological abnormality of the gastrointestinal tract	79228	THOC6	ORPHA:363444
HP:0012718	Morphological abnormality of the gastrointestinal tract	79813	EHMT1	ORPHA:261652
HP:0012718	Morphological abnormality of the gastrointestinal tract	58508	KMT2C	ORPHA:261652
HP:0012718	Morphological abnormality of the gastrointestinal tract	51339	DACT1	OMIM:617466
HP:0012718	Morphological abnormality of the gastrointestinal tract	51339	DACT1	ORPHA:857
HP:0012718	Morphological abnormality of the gastrointestinal tract	51339	DACT1	ORPHA:63260
HP:0012718	Morphological abnormality of the gastrointestinal tract	23112	TNRC6B	OMIM:619243
HP:0012718	Morphological abnormality of the gastrointestinal tract	7291	TWIST1	OMIM:617746
HP:0012718	Morphological abnormality of the gastrointestinal tract	9897	WASHC5	OMIM:220210
HP:0012718	Morphological abnormality of the gastrointestinal tract	9897	WASHC5	ORPHA:7
HP:0012718	Morphological abnormality of the gastrointestinal tract	153241	CEP120	OMIM:616300
HP:0012718	Morphological abnormality of the gastrointestinal tract	7476	WNT7A	ORPHA:2879
HP:0012718	Morphological abnormality of the gastrointestinal tract	1807	DPYS	OMIM:222748
HP:0012718	Morphological abnormality of the gastrointestinal tract	3239	HOXD13	ORPHA:887
HP:0012718	Morphological abnormality of the gastrointestinal tract	28952	CCDC22	ORPHA:7
HP:0012718	Morphological abnormality of the gastrointestinal tract	51733	UPB1	OMIM:613161
HP:0012718	Morphological abnormality of the gastrointestinal tract	54903	MKS1	OMIM:249000
HP:0012718	Morphological abnormality of the gastrointestinal tract	9573	GDF3	ORPHA:2345
HP:0012718	Morphological abnormality of the gastrointestinal tract	392255	GDF6	ORPHA:2345
HP:0012718	Morphological abnormality of the gastrointestinal tract	4222	MEOX1	ORPHA:2345
HP:0012718	Morphological abnormality of the gastrointestinal tract	27152	INTU	OMIM:617925
HP:0012718	Morphological abnormality of the gastrointestinal tract	2719	GPC3	OMIM:312870
HP:0012718	Morphological abnormality of the gastrointestinal tract	2239	GPC4	OMIM:312870
HP:0012718	Morphological abnormality of the gastrointestinal tract	171023	ASXL1	ORPHA:98850
HP:0012718	Morphological abnormality of the gastrointestinal tract	54790	TET2	ORPHA:98850
HP:0012718	Morphological abnormality of the gastrointestinal tract	867	CBL	ORPHA:98850
HP:0012718	Morphological abnormality of the gastrointestinal tract	861	RUNX1	ORPHA:98850
HP:0012718	Morphological abnormality of the gastrointestinal tract	6427	SRSF2	ORPHA:98850
HP:0012718	Morphological abnormality of the gastrointestinal tract	118429	ANTXR2	ORPHA:2176
HP:0012718	Morphological abnormality of the gastrointestinal tract	7518	XRCC4	ORPHA:99812
HP:0012718	Morphological abnormality of the gastrointestinal tract	80270	HSD3B7	ORPHA:79301
HP:0012718	Morphological abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:99811
HP:0012718	Morphological abnormality of the gastrointestinal tract	4292	MLH1	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	27030	MLH3	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	22909	FAN1	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	7048	TGFBR2	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	3845	KRAS	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	5290	PIK3CA	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	2956	MSH6	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	4436	MSH2	ORPHA:144
HP:0012718	Morphological abnormality of the gastrointestinal tract	55630	SLC39A4	ORPHA:37
HP:0012718	Morphological abnormality of the gastrointestinal tract	6514	SLC2A2	OMIM:227810
HP:0012718	Morphological abnormality of the gastrointestinal tract	50674	NEUROG3	ORPHA:83620
HP:0012718	Morphological abnormality of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0012718	Morphological abnormality of the gastrointestinal tract	657	BMPR1A	ORPHA:440437
HP:0012718	Morphological abnormality of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0012718	Morphological abnormality of the gastrointestinal tract	10525	HYOU1	OMIM:233600
HP:0012718	Morphological abnormality of the gastrointestinal tract	4952	OCRL	ORPHA:534
HP:0012718	Morphological abnormality of the gastrointestinal tract	1536	CYBB	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	4688	NCF2	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	1535	CYBA	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	4689	NCF4	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	79415	CYBC1	ORPHA:379
HP:0012718	Morphological abnormality of the gastrointestinal tract	170302	ARX	ORPHA:452
HP:0012718	Morphological abnormality of the gastrointestinal tract	9663	LPIN2	ORPHA:77297
HP:0012718	Morphological abnormality of the gastrointestinal tract	2717	GLA	ORPHA:324
HP:0012718	Morphological abnormality of the gastrointestinal tract	3248	HPGD	ORPHA:2796
HP:0012718	Morphological abnormality of the gastrointestinal tract	6578	SLCO2A1	ORPHA:2796
HP:0012718	Morphological abnormality of the gastrointestinal tract	538	ATP7A	ORPHA:565
HP:0012718	Morphological abnormality of the gastrointestinal tract	2068	ERCC2	OMIM:601675
HP:0012718	Morphological abnormality of the gastrointestinal tract	3070	HELLS	ORPHA:2268
HP:0012718	Morphological abnormality of the gastrointestinal tract	1789	DNMT3B	ORPHA:2268
HP:0012718	Morphological abnormality of the gastrointestinal tract	1789	DNMT3B	OMIM:242860
HP:0012718	Morphological abnormality of the gastrointestinal tract	83879	CDCA7	ORPHA:2268
HP:0012718	Morphological abnormality of the gastrointestinal tract	9841	ZBTB24	ORPHA:2268
HP:0012718	Morphological abnormality of the gastrointestinal tract	113235	SLC46A1	OMIM:229050
HP:0012718	Morphological abnormality of the gastrointestinal tract	175	AGA	ORPHA:93
HP:0012718	Morphological abnormality of the gastrointestinal tract	1499	CTNNB1	ORPHA:873
HP:0012718	Morphological abnormality of the gastrointestinal tract	324	APC	ORPHA:873
HP:0012718	Morphological abnormality of the gastrointestinal tract	30011	SH3KBP1	OMIM:300310
HP:0012718	Morphological abnormality of the gastrointestinal tract	4261	CIITA	OMIM:209920
HP:0012718	Morphological abnormality of the gastrointestinal tract	5994	RFXAP	OMIM:209920
HP:0012718	Morphological abnormality of the gastrointestinal tract	5993	RFX5	OMIM:209920
HP:0012718	Morphological abnormality of the gastrointestinal tract	8625	RFXANK	OMIM:209920
HP:0012718	Morphological abnormality of the gastrointestinal tract	222546	RFX6	OMIM:615710
HP:0012718	Morphological abnormality of the gastrointestinal tract	9508	ADAMTS3	ORPHA:2136
HP:0012718	Morphological abnormality of the gastrointestinal tract	147372	CCBE1	ORPHA:2136
HP:0012718	Morphological abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	7461	CLIP2	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	84277	DNAJC30	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	8468	FKBP6	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	5982	RFC2	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	2969	GTF2I	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	3984	LIMK1	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	9569	GTF2IRD1	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	155382	VPS37D	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	155368	METTL27	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	114049	BUD23	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	7458	EIF4H	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	84163	GTF2IRD2	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	9275	BCL7B	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	26608	TBL2	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	135886	TMEM270	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	51085	MLXIPL	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	9031	BAZ1B	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	2006	ELN	ORPHA:904
HP:0012718	Morphological abnormality of the gastrointestinal tract	1890	TYMP	OMIM:603041
HP:0012718	Morphological abnormality of the gastrointestinal tract	5428	POLG	OMIM:603041
HP:0012718	Morphological abnormality of the gastrointestinal tract	5428	POLG	OMIM:613662
HP:0012718	Morphological abnormality of the gastrointestinal tract	493856	CISD2	ORPHA:3463
HP:0012718	Morphological abnormality of the gastrointestinal tract	7466	WFS1	ORPHA:3463
HP:0012718	Morphological abnormality of the gastrointestinal tract	4567	MT-TL1	ORPHA:225
HP:0012718	Morphological abnormality of the gastrointestinal tract	4556	MT-TE	ORPHA:225
HP:0012718	Morphological abnormality of the gastrointestinal tract	4566	MT-TK	ORPHA:225
HP:0012718	Morphological abnormality of the gastrointestinal tract	6523	SLC5A1	OMIM:606824
HP:0012718	Morphological abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:342
HP:0012718	Morphological abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	2947	GSTM3	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	7040	TGFB1	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	2729	GCLC	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	1084	CEACAM3	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	6556	SLC11A1	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	51164	DCTN4	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	3783	KCNN4	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	4282	MIF	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	1909	EDNRA	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	6550	SLC9A3	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	3162	HMOX1	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	115019	SLC26A9	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	3077	HFE	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	11254	SLC6A14	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	5265	SERPINA1	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	1080	CFTR	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	22802	CLCA4	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	4680	CEACAM6	ORPHA:586
HP:0012718	Morphological abnormality of the gastrointestinal tract	5244	ABCB4	OMIM:602347
HP:0012718	Morphological abnormality of the gastrointestinal tract	8567	MADD	OMIM:619004
HP:0012718	Morphological abnormality of the gastrointestinal tract	6288	SAA1	ORPHA:85445
HP:0012718	Morphological abnormality of the gastrointestinal tract	57570	TRMT5	OMIM:616539
HP:0012718	Morphological abnormality of the gastrointestinal tract	3662	IRF4	ORPHA:3452
HP:0012718	Morphological abnormality of the gastrointestinal tract	695	BTK	ORPHA:47
HP:0012718	Morphological abnormality of the gastrointestinal tract	811	CALR	ORPHA:131
HP:0012718	Morphological abnormality of the gastrointestinal tract	3717	JAK2	ORPHA:131
HP:0012718	Morphological abnormality of the gastrointestinal tract	2153	F5	ORPHA:131
HP:0012718	Morphological abnormality of the gastrointestinal tract	5122	PCSK1	OMIM:600955
HP:0012718	Morphological abnormality of the gastrointestinal tract	326	AIRE	OMIM:240300
HP:0012718	Morphological abnormality of the gastrointestinal tract	1758	DMP1	ORPHA:289176
HP:0012718	Morphological abnormality of the gastrointestinal tract	5167	ENPP1	ORPHA:289176
HP:0012718	Morphological abnormality of the gastrointestinal tract	340024	SLC6A19	ORPHA:2116
HP:0012718	Morphological abnormality of the gastrointestinal tract	57393	CLTRN	ORPHA:2116
HP:0012718	Morphological abnormality of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0012718	Morphological abnormality of the gastrointestinal tract	11181	TREH	ORPHA:103909
HP:0012718	Morphological abnormality of the gastrointestinal tract	6476	SI	OMIM:222900
HP:0012718	Morphological abnormality of the gastrointestinal tract	4615	MYD88	ORPHA:33226
HP:0012718	Morphological abnormality of the gastrointestinal tract	1604	CD55	OMIM:226300
HP:0012718	Morphological abnormality of the gastrointestinal tract	80169	CTC1	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	26277	TINF2	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	55651	NHP2	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	79650	USB1	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	55135	WRAP53	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	51750	RTEL1	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	4869	NPM1	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	7012	TERC	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	55505	NOP10	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	5073	PARN	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	7015	TERT	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	1736	DKC1	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	7298	TYMS	ORPHA:1775
HP:0012718	Morphological abnormality of the gastrointestinal tract	55315	SLC29A3	ORPHA:168569
HP:0012718	Morphological abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220393
HP:0012718	Morphological abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220393
HP:0012718	Morphological abnormality of the gastrointestinal tract	3663	IRF5	ORPHA:220393
HP:0012718	Morphological abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220393
HP:0012718	Morphological abnormality of the gastrointestinal tract	3123	HLA-DRB1	ORPHA:220393
HP:0012718	Morphological abnormality of the gastrointestinal tract	1828	DSG1	OMIM:615508
HP:0012718	Morphological abnormality of the gastrointestinal tract	55670	PEX26	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5824	PEX19	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5828	PEX2	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	8504	PEX3	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	8799	PEX11B	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	9409	PEX16	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5190	PEX6	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5830	PEX5	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5189	PEX1	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5193	PEX12	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5194	PEX13	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5195	PEX14	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	5192	PEX10	ORPHA:912
HP:0012718	Morphological abnormality of the gastrointestinal tract	204	AK2	ORPHA:33355
HP:0012718	Morphological abnormality of the gastrointestinal tract	6929	TCF3	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	973	CD79A	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	974	CD79B	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	3543	IGLL1	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	3507	IGHM	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	29760	BLNK	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	5295	PIK3R1	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	56262	LRRC8A	ORPHA:33110
HP:0012718	Morphological abnormality of the gastrointestinal tract	149233	IL23R	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	6775	STAT4	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	3586	IL10	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	1230	CCR1	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	355	FAS	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	3592	IL12A	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	101928376	IL12A-AS1	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	3106	HLA-B	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	7099	TLR4	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	3459	IFNGR1	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	720	C4A	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	337867	UBAC2	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	51752	ERAP1	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	8302	KLRC4	ORPHA:117
HP:0012718	Morphological abnormality of the gastrointestinal tract	11005	SPINK5	ORPHA:634
HP:0012718	Morphological abnormality of the gastrointestinal tract	139285	AMER1	OMIM:300373
HP:0012718	Morphological abnormality of the gastrointestinal tract	3981	LIG4	ORPHA:235
HP:0012718	Morphological abnormality of the gastrointestinal tract	54888	NSUN2	ORPHA:235
HP:0012718	Morphological abnormality of the gastrointestinal tract	23556	PIGN	OMIM:614080
HP:0012718	Morphological abnormality of the gastrointestinal tract	23556	PIGN	ORPHA:280633
HP:0012718	Morphological abnormality of the gastrointestinal tract	80144	FRAS1	ORPHA:2052
HP:0012718	Morphological abnormality of the gastrointestinal tract	23426	GRIP1	ORPHA:2052
HP:0012718	Morphological abnormality of the gastrointestinal tract	6628	SNRPB	OMIM:117650
HP:0012718	Morphological abnormality of the gastrointestinal tract	6608	SMO	OMIM:601707
HP:0012718	Morphological abnormality of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0012718	Morphological abnormality of the gastrointestinal tract	4683	NBN	ORPHA:647
HP:0012718	Morphological abnormality of the gastrointestinal tract	23522	KAT6B	OMIM:606170
HP:0012718	Morphological abnormality of the gastrointestinal tract	6023	RMRP	OMIM:250250
HP:0012718	Morphological abnormality of the gastrointestinal tract	775	CACNA1C	OMIM:620029
HP:0012718	Morphological abnormality of the gastrointestinal tract	27315	PGAP2	OMIM:614207
HP:0012718	Morphological abnormality of the gastrointestinal tract	158326	FREM1	ORPHA:2717
HP:0012718	Morphological abnormality of the gastrointestinal tract	158326	FREM1	ORPHA:217266
HP:0012718	Morphological abnormality of the gastrointestinal tract	158326	FREM1	OMIM:248450
HP:0012718	Morphological abnormality of the gastrointestinal tract	84720	PIGO	OMIM:614749
HP:0012718	Morphological abnormality of the gastrointestinal tract	5308	PITX2	OMIM:180500
HP:0012718	Morphological abnormality of the gastrointestinal tract	5308	PITX2	ORPHA:782
HP:0012718	Morphological abnormality of the gastrointestinal tract	3110	MNX1	OMIM:176450
HP:0012718	Morphological abnormality of the gastrointestinal tract	57167	SALL4	OMIM:607323
HP:0012718	Morphological abnormality of the gastrointestinal tract	8626	TP63	OMIM:604292
HP:0012718	Morphological abnormality of the gastrointestinal tract	1009	CDH11	OMIM:211380
HP:0012718	Morphological abnormality of the gastrointestinal tract	2296	FOXC1	ORPHA:782
HP:0012718	Morphological abnormality of the gastrointestinal tract	6299	SALL1	OMIM:107480
HP:0012718	Morphological abnormality of the gastrointestinal tract	6926	TBX3	OMIM:181450
HP:0012718	Morphological abnormality of the gastrointestinal tract	8318	CDC45	OMIM:617063
HP:0012718	Morphological abnormality of the gastrointestinal tract	54101	RIPK4	OMIM:263650
HP:0012718	Morphological abnormality of the gastrointestinal tract	84667	HES7	OMIM:613686
HP:0012718	Morphological abnormality of the gastrointestinal tract	55612	FERMT1	OMIM:173650
HP:0012718	Morphological abnormality of the gastrointestinal tract	55636	CHD7	OMIM:214800
HP:0012718	Morphological abnormality of the gastrointestinal tract	79633	FAT4	ORPHA:314679
HP:0012718	Morphological abnormality of the gastrointestinal tract	8642	DCHS1	ORPHA:314679
HP:0012718	Morphological abnormality of the gastrointestinal tract	9968	MED12	OMIM:305450
HP:0012718	Morphological abnormality of the gastrointestinal tract	8085	KMT2D	OMIM:147920
HP:0012718	Morphological abnormality of the gastrointestinal tract	7403	KDM6A	OMIM:147920
HP:0012718	Morphological abnormality of the gastrointestinal tract	4312	MMP1	OMIM:226600
HP:0012718	Morphological abnormality of the gastrointestinal tract	6657	SOX2	ORPHA:77298
HP:0012718	Morphological abnormality of the gastrointestinal tract	6657	SOX2	OMIM:206900
HP:0012718	Morphological abnormality of the gastrointestinal tract	6657	SOX2	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	7528	YY1	ORPHA:506358
HP:0012718	Morphological abnormality of the gastrointestinal tract	5339	PLEC	OMIM:226730
HP:0012718	Morphological abnormality of the gastrointestinal tract	3691	ITGB4	OMIM:226730
HP:0012718	Morphological abnormality of the gastrointestinal tract	10606	PAICS	OMIM:619859
HP:0012718	Morphological abnormality of the gastrointestinal tract	5422	POLA1	OMIM:301030
HP:0012718	Morphological abnormality of the gastrointestinal tract	51729	WBP11	OMIM:619227
HP:0012718	Morphological abnormality of the gastrointestinal tract	6602	SMARCD1	OMIM:618779
HP:0012718	Morphological abnormality of the gastrointestinal tract	4990	SIX6	OMIM:206900
HP:0012718	Morphological abnormality of the gastrointestinal tract	9343	EFTUD2	OMIM:610536
HP:0012718	Morphological abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	128674	PROKR2	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	6658	SOX3	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	9915	ARNT2	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	8820	HESX1	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	5015	OTX2	ORPHA:3157
HP:0012718	Morphological abnormality of the gastrointestinal tract	5053	PAH	ORPHA:2209
HP:0012718	Morphological abnormality of the gastrointestinal tract	55650	PIGV	OMIM:239300
HP:0012718	Morphological abnormality of the gastrointestinal tract	6197	RPS6KA3	OMIM:303600
HP:0012718	Morphological abnormality of the gastrointestinal tract	2212	FCGR2A	OMIM:219700
HP:0012718	Morphological abnormality of the gastrointestinal tract	54496	PRMT7	OMIM:617157
HP:0012718	Morphological abnormality of the gastrointestinal tract	4000	LMNA	OMIM:619793
HP:0012718	Morphological abnormality of the gastrointestinal tract	6794	STK11	ORPHA:2869
HP:0012718	Morphological abnormality of the gastrointestinal tract	6794	STK11	OMIM:175200
HP:0012718	Morphological abnormality of the gastrointestinal tract	5728	PTEN	ORPHA:79076
HP:0012718	Morphological abnormality of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0012718	Morphological abnormality of the gastrointestinal tract	64840	PORCN	OMIM:305600
HP:0012718	Morphological abnormality of the gastrointestinal tract	2132	EXT2	OMIM:616682
HP:0012718	Morphological abnormality of the gastrointestinal tract	84942	WDR73	OMIM:251300
HP:0012718	Morphological abnormality of the gastrointestinal tract	84942	WDR73	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	9719	ADAMTSL2	ORPHA:1901
HP:0012718	Morphological abnormality of the gastrointestinal tract	9509	ADAMTS2	ORPHA:1901
HP:0012718	Morphological abnormality of the gastrointestinal tract	6925	TCF4	ORPHA:2896
HP:0012718	Morphological abnormality of the gastrointestinal tract	5832	ALDH18A1	OMIM:601162
HP:0012718	Morphological abnormality of the gastrointestinal tract	1277	COL1A1	ORPHA:287
HP:0012718	Morphological abnormality of the gastrointestinal tract	1289	COL5A1	ORPHA:287
HP:0012718	Morphological abnormality of the gastrointestinal tract	1289	COL5A1	OMIM:619329
HP:0012718	Morphological abnormality of the gastrointestinal tract	1290	COL5A2	ORPHA:287
HP:0012718	Morphological abnormality of the gastrointestinal tract	7148	TNXB	OMIM:606408
HP:0012718	Morphological abnormality of the gastrointestinal tract	113189	CHST14	OMIM:601776
HP:0012718	Morphological abnormality of the gastrointestinal tract	715	C1R	OMIM:130080
HP:0012718	Morphological abnormality of the gastrointestinal tract	2743	GLRB	ORPHA:3197
HP:0012718	Morphological abnormality of the gastrointestinal tract	2743	GLRB	OMIM:614619
HP:0012718	Morphological abnormality of the gastrointestinal tract	2741	GLRA1	ORPHA:3197
HP:0012718	Morphological abnormality of the gastrointestinal tract	10243	GPHN	ORPHA:3197
HP:0012718	Morphological abnormality of the gastrointestinal tract	84896	ATAD1	ORPHA:3197
HP:0012718	Morphological abnormality of the gastrointestinal tract	9152	SLC6A5	ORPHA:3197
HP:0012718	Morphological abnormality of the gastrointestinal tract	9152	SLC6A5	OMIM:614618
HP:0012718	Morphological abnormality of the gastrointestinal tract	7043	TGFB3	OMIM:615582
HP:0012718	Morphological abnormality of the gastrointestinal tract	169792	GLIS3	OMIM:610199
HP:0012718	Morphological abnormality of the gastrointestinal tract	23261	CAMTA1	OMIM:614756
HP:0012718	Morphological abnormality of the gastrointestinal tract	84520	GON7	OMIM:619603
HP:0012718	Morphological abnormality of the gastrointestinal tract	51002	TPRKB	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	55644	OSGEP	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	55644	OSGEP	OMIM:617729
HP:0012718	Morphological abnormality of the gastrointestinal tract	57122	NUP107	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	10785	WDR4	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	55746	NUP133	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	112858	TP53RK	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	8270	LAGE3	ORPHA:2065
HP:0012718	Morphological abnormality of the gastrointestinal tract	51341	ZBTB7A	OMIM:619769
HP:0012718	Morphological abnormality of the gastrointestinal tract	2165	F13B	ORPHA:331
HP:0012718	Morphological abnormality of the gastrointestinal tract	2162	F13A1	ORPHA:331
HP:0012718	Morphological abnormality of the gastrointestinal tract	7454	WAS	OMIM:301000
HP:0012718	Morphological abnormality of the gastrointestinal tract	7454	WAS	ORPHA:906
HP:0012718	Morphological abnormality of the gastrointestinal tract	331	XIAP	OMIM:300635
HP:0012718	Morphological abnormality of the gastrointestinal tract	10616	RBCK1	OMIM:615895
HP:0012718	Morphological abnormality of the gastrointestinal tract	5243	ABCB1	OMIM:612244
HP:0012718	Morphological abnormality of the gastrointestinal tract	3257	HPS1	OMIM:203300
HP:0012718	Morphological abnormality of the gastrointestinal tract	987	LRBA	OMIM:614700
HP:0012718	Morphological abnormality of the gastrointestinal tract	7456	WIPF1	ORPHA:906
HP:0012718	Morphological abnormality of the gastrointestinal tract	8737	RIPK1	OMIM:618108
HP:0012718	Morphological abnormality of the gastrointestinal tract	10095	ARPC1B	OMIM:617718
HP:0012718	Morphological abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:232220
HP:0012718	Morphological abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:232240
HP:0012718	Morphological abnormality of the gastrointestinal tract	2542	SLC37A4	ORPHA:79259
HP:0012718	Morphological abnormality of the gastrointestinal tract	5293	PIK3CD	OMIM:619281
HP:0012718	Morphological abnormality of the gastrointestinal tract	2000	ELF4	OMIM:301074
HP:0012718	Morphological abnormality of the gastrointestinal tract	64127	NOD2	OMIM:266600
HP:0012718	Morphological abnormality of the gastrointestinal tract	3569	IL6	OMIM:266600
HP:0012718	Morphological abnormality of the gastrointestinal tract	57511	COG6	OMIM:614576
HP:0012718	Morphological abnormality of the gastrointestinal tract	345611	IRGM	OMIM:612278
HP:0012718	Morphological abnormality of the gastrointestinal tract	59067	IL21	OMIM:615767
HP:0012718	Morphological abnormality of the gastrointestinal tract	64858	DCLRE1B	OMIM:620133
HP:0012718	Morphological abnormality of the gastrointestinal tract	5297	PI4KA	OMIM:619708
HP:0012718	Morphological abnormality of the gastrointestinal tract	875	CBS	ORPHA:394
HP:0012718	Morphological abnormality of the gastrointestinal tract	7840	ALMS1	ORPHA:64
HP:0012718	Morphological abnormality of the gastrointestinal tract	79989	IFT56	OMIM:619534
HP:0012718	Morphological abnormality of the gastrointestinal tract	55532	SLC30A10	ORPHA:309854
HP:0012718	Morphological abnormality of the gastrointestinal tract	54567	DLL4	OMIM:616589
HP:0012718	Morphological abnormality of the gastrointestinal tract	54567	DLL4	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	2632	GBE1	OMIM:232500
HP:0012718	Morphological abnormality of the gastrointestinal tract	4851	NOTCH1	OMIM:616028
HP:0012718	Morphological abnormality of the gastrointestinal tract	4851	NOTCH1	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	3875	KRT18	OMIM:215600
HP:0012718	Morphological abnormality of the gastrointestinal tract	79991	STN1	OMIM:617341
HP:0012718	Morphological abnormality of the gastrointestinal tract	1716	DGUOK	OMIM:617068
HP:0012718	Morphological abnormality of the gastrointestinal tract	55340	GIMAP5	OMIM:619463
HP:0012718	Morphological abnormality of the gastrointestinal tract	5256	PHKA2	ORPHA:264580
HP:0012718	Morphological abnormality of the gastrointestinal tract	5261	PHKG2	ORPHA:264580
HP:0012718	Morphological abnormality of the gastrointestinal tract	113220	KIF12	OMIM:619662
HP:0012718	Morphological abnormality of the gastrointestinal tract	51473	DCDC2	ORPHA:84081
HP:0012718	Morphological abnormality of the gastrointestinal tract	2783	GNB2	OMIM:619503
HP:0012718	Morphological abnormality of the gastrointestinal tract	9371	KIF3B	OMIM:618955
HP:0012718	Morphological abnormality of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0012718	Morphological abnormality of the gastrointestinal tract	3516	RBPJ	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	57514	ARHGAP31	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	57572	DOCK6	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	285203	EOGT	ORPHA:974
HP:0012718	Morphological abnormality of the gastrointestinal tract	10320	IKZF1	ORPHA:36426
HP:0012718	Morphological abnormality of the gastrointestinal tract	54809	SAMD9	OMIM:617053
HP:0012718	Morphological abnormality of the gastrointestinal tract	79977	GRHL2	OMIM:616029
HP:0012718	Morphological abnormality of the gastrointestinal tract	10892	MALT1	OMIM:615468
HP:0012718	Morphological abnormality of the gastrointestinal tract	4854	NOTCH3	ORPHA:2591
HP:0012718	Morphological abnormality of the gastrointestinal tract	5159	PDGFRB	ORPHA:2591
HP:0012718	Morphological abnormality of the gastrointestinal tract	10043	TOM1	ORPHA:391487
HP:0012718	Morphological abnormality of the gastrointestinal tract	164656	TMPRSS6	ORPHA:209981
HP:0012718	Morphological abnormality of the gastrointestinal tract	6774	STAT3	OMIM:615952
HP:0012718	Morphological abnormality of the gastrointestinal tract	5979	RET	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	8516	ITGA8	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	26281	FGF20	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	2674	GFRA1	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	7484	WNT9B	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	80000	GREB1L	ORPHA:1848
HP:0012718	Morphological abnormality of the gastrointestinal tract	83737	ITCH	ORPHA:228426
HP:0012718	Morphological abnormality of the gastrointestinal tract	1281	COL3A1	ORPHA:286
HP:0012718	Morphological abnormality of the gastrointestinal tract	162	AP1B1	ORPHA:171851
HP:0012718	Morphological abnormality of the gastrointestinal tract	1174	AP1S1	ORPHA:171851
HP:0012718	Morphological abnormality of the gastrointestinal tract	50485	SMARCAL1	ORPHA:1830
HP:0012718	Morphological abnormality of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0012718	Morphological abnormality of the gastrointestinal tract	4645	MYO5B	OMIM:251850
HP:0012718	Morphological abnormality of the gastrointestinal tract	1908	EDN3	ORPHA:897
HP:0012718	Morphological abnormality of the gastrointestinal tract	1910	EDNRB	ORPHA:897
HP:0012718	Morphological abnormality of the gastrointestinal tract	6663	SOX10	ORPHA:897
HP:0012718	Morphological abnormality of the gastrointestinal tract	83483	PLVAP	OMIM:618183
HP:0012718	Morphological abnormality of the gastrointestinal tract	4351	MPI	ORPHA:79319
HP:0012718	Morphological abnormality of the gastrointestinal tract	4351	MPI	OMIM:602579
HP:0012718	Morphological abnormality of the gastrointestinal tract	6772	STAT1	OMIM:614162
HP:0012718	Morphological abnormality of the gastrointestinal tract	54914	FOCAD	OMIM:619991
HP:0012718	Morphological abnormality of the gastrointestinal tract	5286	PIK3C2A	OMIM:618440
HP:0012718	Morphological abnormality of the gastrointestinal tract	22900	CARD8	OMIM:619079
HP:0012718	Morphological abnormality of the gastrointestinal tract	29929	ALG6	ORPHA:79320
HP:0012718	Morphological abnormality of the gastrointestinal tract	56052	ALG1	ORPHA:79327
HP:0012718	Morphological abnormality of the gastrointestinal tract	100303755	PET117	OMIM:619063
HP:0012718	Morphological abnormality of the gastrointestinal tract	8694	DGAT1	OMIM:615863
HP:0012718	Morphological abnormality of the gastrointestinal tract	84342	COG8	ORPHA:95428
HP:0012718	Morphological abnormality of the gastrointestinal tract	79053	ALG8	OMIM:608104
HP:0012718	Morphological abnormality of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0012718	Morphological abnormality of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0012718	Morphological abnormality of the gastrointestinal tract	7852	CXCR4	ORPHA:51636
HP:0012718	Morphological abnormality of the gastrointestinal tract	9939	RBM8A	OMIM:274000
HP:0012718	Morphological abnormality of the gastrointestinal tract	8241	RBM10	OMIM:311900
HP:0012718	Morphological abnormality of the gastrointestinal tract	51780	KDM3B	OMIM:618846
HP:0012718	Morphological abnormality of the gastrointestinal tract	815	CAMK2A	OMIM:617798
HP:0012718	Morphological abnormality of the gastrointestinal tract	1063	CENPF	OMIM:243605
HP:0012718	Morphological abnormality of the gastrointestinal tract	25914	RTTN	ORPHA:468631
HP:0012718	Morphological abnormality of the gastrointestinal tract	25790	CFAP45	OMIM:619608
HP:0012718	Morphological abnormality of the gastrointestinal tract	2201	FBN2	ORPHA:115
HP:0012718	Morphological abnormality of the gastrointestinal tract	79651	RHBDF2	ORPHA:2198
HP:0012718	Morphological abnormality of the gastrointestinal tract	79600	TCTN1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	79848	CSPP1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	51684	SUFU	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	54806	AHI1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	54806	AHI1	ORPHA:220493
HP:0012718	Morphological abnormality of the gastrointestinal tract	65250	CPLANE1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	91147	TMEM67	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	200894	ARL13B	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	9731	CEP104	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	219844	HYLS1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	23247	KATNIP	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	219854	TMEM218	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	95681	CEP41	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	95681	CEP41	ORPHA:220493
HP:0012718	Morphological abnormality of the gastrointestinal tract	9786	KIAA0586	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	56623	INPP5E	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	56623	INPP5E	ORPHA:220493
HP:0012718	Morphological abnormality of the gastrointestinal tract	79867	TCTN2	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	80776	B9D2	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	10464	PIBF1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	80210	ARMC9	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	23116	TOGARAM1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	25776	CBY1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	27077	B9D1	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	403	ARL3	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:475
HP:0012718	Morphological abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:220497
HP:0012718	Morphological abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	6535	SLC6A8	OMIM:300352
HP:0012718	Morphological abnormality of the gastrointestinal tract	6535	SLC6A8	ORPHA:52503
HP:0012718	Morphological abnormality of the gastrointestinal tract	10262	SF3B4	OMIM:154400
HP:0012718	Morphological abnormality of the gastrointestinal tract	8929	PHOX2B	OMIM:209880
HP:0012718	Morphological abnormality of the gastrointestinal tract	8929	PHOX2B	OMIM:613013
HP:0012718	Morphological abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:661
HP:0012718	Morphological abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:99803
HP:0012718	Morphological abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:2151
HP:0012718	Morphological abnormality of the gastrointestinal tract	26128	KIFBP	OMIM:609460
HP:0012718	Morphological abnormality of the gastrointestinal tract	26128	KIFBP	ORPHA:66629
HP:0012718	Morphological abnormality of the gastrointestinal tract	64324	NSD1	ORPHA:821
HP:0012718	Morphological abnormality of the gastrointestinal tract	29072	SETD2	ORPHA:821
HP:0012718	Morphological abnormality of the gastrointestinal tract	10297	APC2	ORPHA:821
HP:0012718	Morphological abnormality of the gastrointestinal tract	2668	GDNF	ORPHA:661
HP:0012718	Morphological abnormality of the gastrointestinal tract	2668	GDNF	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	2668	GDNF	OMIM:613711
HP:0012718	Morphological abnormality of the gastrointestinal tract	627	BDNF	ORPHA:661
HP:0012718	Morphological abnormality of the gastrointestinal tract	283446	MYO1H	ORPHA:661
HP:0012718	Morphological abnormality of the gastrointestinal tract	215	ABCD1	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	1889	ECE1	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	1889	ECE1	OMIM:613870
HP:0012718	Morphological abnormality of the gastrointestinal tract	6720	SREBF1	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	223117	SEMA3D	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	10512	SEMA3C	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	2064	ERBB2	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	4902	NRTN	ORPHA:388
HP:0012718	Morphological abnormality of the gastrointestinal tract	51360	MBTPS2	OMIM:308205
HP:0012718	Morphological abnormality of the gastrointestinal tract	51360	MBTPS2	ORPHA:2273
HP:0012718	Morphological abnormality of the gastrointestinal tract	51360	MBTPS2	ORPHA:85284
HP:0012718	Morphological abnormality of the gastrointestinal tract	83479	DDX59	ORPHA:2919
HP:0012718	Morphological abnormality of the gastrointestinal tract	83479	DDX59	OMIM:174300
HP:0012718	Morphological abnormality of the gastrointestinal tract	23322	RPGRIP1L	ORPHA:220497
HP:0012718	Morphological abnormality of the gastrointestinal tract	4867	NPHP1	ORPHA:220497
HP:0012718	Morphological abnormality of the gastrointestinal tract	429	ASCL1	ORPHA:99803
HP:0012718	Morphological abnormality of the gastrointestinal tract	6591	SNAI2	ORPHA:2884
HP:0012718	Morphological abnormality of the gastrointestinal tract	6591	SNAI2	ORPHA:895
HP:0012718	Morphological abnormality of the gastrointestinal tract	7846	TUBA1A	ORPHA:171680
HP:0012718	Morphological abnormality of the gastrointestinal tract	7299	TYR	ORPHA:895
HP:0012718	Morphological abnormality of the gastrointestinal tract	4254	KITLG	ORPHA:895
HP:0012718	Morphological abnormality of the gastrointestinal tract	5077	PAX3	ORPHA:894
HP:0012718	Morphological abnormality of the gastrointestinal tract	5077	PAX3	OMIM:148820
HP:0012718	Morphological abnormality of the gastrointestinal tract	84992	PIGY	ORPHA:247262
HP:0012718	Morphological abnormality of the gastrointestinal tract	93210	PGAP3	ORPHA:247262
HP:0012718	Morphological abnormality of the gastrointestinal tract	284098	PIGW	ORPHA:247262
HP:0012718	Morphological abnormality of the gastrointestinal tract	9487	PIGL	ORPHA:247262
HP:0012718	Morphological abnormality of the gastrointestinal tract	84100	ARL6	OMIM:209900
HP:0012718	Morphological abnormality of the gastrointestinal tract	79140	CCDC28B	OMIM:209900
HP:0012718	Morphological abnormality of the gastrointestinal tract	582	BBS1	OMIM:209900
HP:0012718	Morphological abnormality of the gastrointestinal tract	546	ATRX	ORPHA:847
HP:0012718	Morphological abnormality of the gastrointestinal tract	79583	TMEM231	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	51524	TMEM138	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	23090	ZNF423	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	80184	CEP290	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	51259	TMEM216	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	57545	CC2D2A	ORPHA:2318
HP:0012718	Morphological abnormality of the gastrointestinal tract	3897	L1CAM	OMIM:304100
HP:0012718	Morphological abnormality of the gastrointestinal tract	3897	L1CAM	ORPHA:1497
HP:0012718	Morphological abnormality of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0012718	Morphological abnormality of the gastrointestinal tract	2065	ERBB3	OMIM:243180
HP:0012718	Morphological abnormality of the gastrointestinal tract	5310	PKD1	OMIM:173900
HP:0012718	Morphological abnormality of the gastrointestinal tract	4638	MYLK	OMIM:249210
HP:0012718	Morphological abnormality of the gastrointestinal tract	4638	MYLK	ORPHA:2241
HP:0012718	Morphological abnormality of the gastrointestinal tract	2138	EYA1	OMIM:113650
HP:0012718	Morphological abnormality of the gastrointestinal tract	6495	SIX1	OMIM:113650
HP:0012718	Morphological abnormality of the gastrointestinal tract	4750	NEK1	OMIM:263520
HP:0012718	Morphological abnormality of the gastrointestinal tract	2627	GATA6	OMIM:600001
HP:0012718	Morphological abnormality of the gastrointestinal tract	2627	GATA6	ORPHA:2140
HP:0012718	Morphological abnormality of the gastrointestinal tract	2627	GATA6	ORPHA:2255
HP:0012718	Morphological abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353281
HP:0012718	Morphological abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353277
HP:0012718	Morphological abnormality of the gastrointestinal tract	80816	ASXL3	OMIM:615485
HP:0012718	Morphological abnormality of the gastrointestinal tract	89910	UBE3B	OMIM:244450
HP:0012718	Morphological abnormality of the gastrointestinal tract	8882	ZPR1	OMIM:619321
HP:0012718	Morphological abnormality of the gastrointestinal tract	5915	RARB	OMIM:615524
HP:0012718	Morphological abnormality of the gastrointestinal tract	55997	CFC1	OMIM:605376
HP:0012718	Morphological abnormality of the gastrointestinal tract	4853	NOTCH2	OMIM:102500
HP:0012718	Morphological abnormality of the gastrointestinal tract	4853	NOTCH2	ORPHA:955
HP:0012718	Morphological abnormality of the gastrointestinal tract	7994	KAT6A	ORPHA:457193
HP:0012718	Morphological abnormality of the gastrointestinal tract	7994	KAT6A	OMIM:616268
HP:0012718	Morphological abnormality of the gastrointestinal tract	118856	MMP21	OMIM:616749
HP:0012718	Morphological abnormality of the gastrointestinal tract	3670	ISL1	ORPHA:93930
HP:0012718	Morphological abnormality of the gastrointestinal tract	8091	HMGA2	ORPHA:94063
HP:0012718	Morphological abnormality of the gastrointestinal tract	23592	LEMD3	ORPHA:94063
HP:0012718	Morphological abnormality of the gastrointestinal tract	23414	ZFPM2	ORPHA:2140
HP:0012718	Morphological abnormality of the gastrointestinal tract	4036	LRP2	ORPHA:2143
HP:0012718	Morphological abnormality of the gastrointestinal tract	4036	LRP2	OMIM:222448
HP:0012718	Morphological abnormality of the gastrointestinal tract	3192	HNRNPU	ORPHA:238769
HP:0012718	Morphological abnormality of the gastrointestinal tract	10056	FARSB	OMIM:613658
HP:0012718	Morphological abnormality of the gastrointestinal tract	1718	DHCR24	ORPHA:35107
HP:0012718	Morphological abnormality of the gastrointestinal tract	27031	NPHP3	OMIM:208540
HP:0012718	Morphological abnormality of the gastrointestinal tract	27031	NPHP3	ORPHA:3032
HP:0012718	Morphological abnormality of the gastrointestinal tract	112752	IFT43	OMIM:617866
HP:0012718	Morphological abnormality of the gastrointestinal tract	9772	TMEM94	OMIM:618316
HP:0012718	Morphological abnormality of the gastrointestinal tract	25802	LMOD1	ORPHA:2241
HP:0012718	Morphological abnormality of the gastrointestinal tract	745	MYRF	OMIM:618280
HP:0012718	Morphological abnormality of the gastrointestinal tract	4087	SMAD2	OMIM:619657
HP:0012718	Morphological abnormality of the gastrointestinal tract	59	ACTA2	OMIM:613834
HP:0012718	Morphological abnormality of the gastrointestinal tract	79087	ALG12	ORPHA:79324
HP:0012718	Morphological abnormality of the gastrointestinal tract	25981	DNAH1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	115948	ODAD3	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	54768	HYDIN	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	352909	DNAAF3	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	27148	STK36	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	51314	NME8	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	92749	DRC1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	54970	TTC12	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	152110	NEK10	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	8481	OFD1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	2302	FOXJ1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	221421	RSPH9	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	85478	CCDC65	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	55036	CCDC40	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	51364	ZMYND10	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	64446	DNAI2	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	6674	SPAG1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	83544	DNAL1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	89765	RSPH1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	83538	ODAD4	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	200373	CFAP221	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	374407	DNAJB13	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	55172	DNAAF2	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	161582	DNAAF4	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	2622	GAS8	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	23639	DNAAF11	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	27019	DNAI1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	345895	RSPH4A	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	54919	DNAAF5	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	6103	RPGR	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	388389	CCDC103	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	93233	ODAD1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	55130	ODAD2	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	1767	DNAH5	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	83861	RSPH3	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	345643	MCIDAS	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	56683	CFAP298	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	79925	SPEF2	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	10309	CCNO	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	115399	LRRC56	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	139212	DNAAF6	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	123872	DNAAF1	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	85016	CFAP300	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	339829	CCDC39	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	8701	DNAH11	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	1770	DNAH9	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	246176	GAS2L2	ORPHA:244
HP:0012718	Morphological abnormality of the gastrointestinal tract	51128	SAR1B	OMIM:246700
HP:0012718	Morphological abnormality of the gastrointestinal tract	51128	SAR1B	ORPHA:71
HP:0012718	Morphological abnormality of the gastrointestinal tract	9414	TJP2	OMIM:607748
HP:0012718	Morphological abnormality of the gastrointestinal tract	3988	LIPA	ORPHA:75233
HP:0012718	Morphological abnormality of the gastrointestinal tract	3988	LIPA	OMIM:278000
HP:0012718	Morphological abnormality of the gastrointestinal tract	9056	SLC7A7	ORPHA:470
HP:0012718	Morphological abnormality of the gastrointestinal tract	51651	PTRH2	OMIM:616263
HP:0012718	Morphological abnormality of the gastrointestinal tract	6555	SLC10A2	OMIM:613291
HP:0012718	Morphological abnormality of the gastrointestinal tract	57003	CCDC47	OMIM:618268
HP:0012718	Morphological abnormality of the gastrointestinal tract	3930	LBR	OMIM:613471
HP:0012718	Morphological abnormality of the gastrointestinal tract	6718	AKR1D1	OMIM:235555
HP:0012718	Morphological abnormality of the gastrointestinal tract	6718	AKR1D1	ORPHA:79303
HP:0012718	Morphological abnormality of the gastrointestinal tract	338	APOB	OMIM:615558
HP:0012718	Morphological abnormality of the gastrointestinal tract	3117	HLA-DQA1	OMIM:212750
HP:0012718	Morphological abnormality of the gastrointestinal tract	3119	HLA-DQB1	OMIM:212750
HP:0012718	Morphological abnormality of the gastrointestinal tract	9420	CYP7B1	OMIM:613812
HP:0012718	Morphological abnormality of the gastrointestinal tract	256297	PTF1A	OMIM:615935
HP:0012718	Morphological abnormality of the gastrointestinal tract	11330	CTRC	OMIM:167800
HP:0012718	Morphological abnormality of the gastrointestinal tract	6690	SPINK1	OMIM:167800
HP:0012718	Morphological abnormality of the gastrointestinal tract	5645	PRSS2	OMIM:167800
HP:0012718	Morphological abnormality of the gastrointestinal tract	5644	PRSS1	OMIM:167800
HP:0012718	Morphological abnormality of the gastrointestinal tract	4547	MTTP	ORPHA:14
HP:0012718	Morphological abnormality of the gastrointestinal tract	123264	SLC51B	OMIM:619481
HP:0012718	Morphological abnormality of the gastrointestinal tract	6729	SRP54	OMIM:618752
HP:0012718	Morphological abnormality of the gastrointestinal tract	6729	SRP54	OMIM:260400
HP:0012718	Morphological abnormality of the gastrointestinal tract	6729	SRP54	ORPHA:811
HP:0012718	Morphological abnormality of the gastrointestinal tract	51119	SBDS	OMIM:260400
HP:0012718	Morphological abnormality of the gastrointestinal tract	51119	SBDS	ORPHA:811
HP:0012718	Morphological abnormality of the gastrointestinal tract	134218	DNAJC21	OMIM:260400
HP:0012718	Morphological abnormality of the gastrointestinal tract	134218	DNAJC21	ORPHA:811
HP:0012718	Morphological abnormality of the gastrointestinal tract	79631	EFL1	OMIM:617941
HP:0012718	Morphological abnormality of the gastrointestinal tract	79631	EFL1	ORPHA:811
HP:0012718	Morphological abnormality of the gastrointestinal tract	5406	PNLIP	OMIM:614338
HP:0012718	Morphological abnormality of the gastrointestinal tract	8309	ACOX2	OMIM:617308
HP:0012718	Morphological abnormality of the gastrointestinal tract	23729	SHPK	ORPHA:440713
HP:0012718	Morphological abnormality of the gastrointestinal tract	84701	COX4I2	OMIM:612714
HP:0012718	Morphological abnormality of the gastrointestinal tract	5373	PMM2	OMIM:212065
HP:0012718	Morphological abnormality of the gastrointestinal tract	10054	UBA2	OMIM:619959
HP:0012718	Morphological abnormality of the gastrointestinal tract	6558	SLC12A2	OMIM:619083
HP:0012718	Morphological abnormality of the gastrointestinal tract	55788	LMBRD1	OMIM:277380
HP:0012718	Morphological abnormality of the gastrointestinal tract	9723	SEMA3E	ORPHA:138
HP:0012718	Morphological abnormality of the gastrointestinal tract	412	STS	ORPHA:281090
HP:0012718	Morphological abnormality of the gastrointestinal tract	129563	DIS3L2	OMIM:267000
HP:0012718	Morphological abnormality of the gastrointestinal tract	738	VPS51	OMIM:618606
HP:0012718	Morphological abnormality of the gastrointestinal tract	55690	PACS1	OMIM:615009
HP:0012718	Morphological abnormality of the gastrointestinal tract	7407	VARS1	OMIM:617802
HP:0012718	Morphological abnormality of the gastrointestinal tract	64135	IFIH1	OMIM:615846
HP:0012718	Morphological abnormality of the gastrointestinal tract	50619	DEF6	OMIM:619573
HP:0012718	Morphological abnormality of the gastrointestinal tract	1493	CTLA4	OMIM:616100
HP:0012718	Morphological abnormality of the gastrointestinal tract	9051	PSTPIP1	OMIM:604416
HP:0012718	Morphological abnormality of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0012718	Morphological abnormality of the gastrointestinal tract	843	CASP10	ORPHA:3261
HP:0012718	Morphological abnormality of the gastrointestinal tract	10125	RASGRP1	ORPHA:3261
HP:0012718	Morphological abnormality of the gastrointestinal tract	10625	IVNS1ABP	OMIM:618969
HP:0012718	Morphological abnormality of the gastrointestinal tract	6499	SKIC2	OMIM:614602
HP:0012718	Morphological abnormality of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0012718	Morphological abnormality of the gastrointestinal tract	5551	PRF1	ORPHA:540
HP:0012718	Morphological abnormality of the gastrointestinal tract	8676	STX11	ORPHA:540
HP:0012718	Morphological abnormality of the gastrointestinal tract	201294	UNC13D	ORPHA:540
HP:0012718	Morphological abnormality of the gastrointestinal tract	6813	STXBP2	ORPHA:540
HP:0012718	Morphological abnormality of the gastrointestinal tract	6813	STXBP2	OMIM:613101
HP:0012718	Morphological abnormality of the gastrointestinal tract	6850	SYK	OMIM:619381
HP:0012718	Morphological abnormality of the gastrointestinal tract	8915	BCL10	OMIM:616098
HP:0012718	Morphological abnormality of the gastrointestinal tract	23149	FCHO1	OMIM:619164
HP:0012718	Morphological abnormality of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0012718	Morphological abnormality of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0012718	Morphological abnormality of the gastrointestinal tract	7535	ZAP70	OMIM:617006
HP:0012718	Morphological abnormality of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0012718	Morphological abnormality of the gastrointestinal tract	3587	IL10RA	OMIM:613148
HP:0012718	Morphological abnormality of the gastrointestinal tract	5294	PIK3CG	OMIM:619802
HP:0012718	Morphological abnormality of the gastrointestinal tract	338328	GPIHBP1	OMIM:615947
HP:0012718	Morphological abnormality of the gastrointestinal tract	7010	TEK	ORPHA:1059
HP:0012718	Morphological abnormality of the gastrointestinal tract	7010	TEK	OMIM:600195
HP:0012718	Morphological abnormality of the gastrointestinal tract	64132	XYLT2	OMIM:605822
HP:0012718	Morphological abnormality of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0012718	Morphological abnormality of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0012718	Morphological abnormality of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0012718	Morphological abnormality of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0012718	Morphological abnormality of the gastrointestinal tract	5340	PLG	OMIM:217090
HP:0012718	Morphological abnormality of the gastrointestinal tract	5340	PLG	ORPHA:722
HP:0012718	Morphological abnormality of the gastrointestinal tract	91574	MTRFR	ORPHA:254930
HP:0012718	Morphological abnormality of the gastrointestinal tract	91574	MTRFR	OMIM:613559
HP:0012718	Morphological abnormality of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0012718	Morphological abnormality of the gastrointestinal tract	57492	ARID1B	OMIM:135900
HP:0012718	Morphological abnormality of the gastrointestinal tract	2629	GBA1	ORPHA:2072
HP:0012718	Morphological abnormality of the gastrointestinal tract	9780	PIEZO1	OMIM:616843
HP:0012718	Morphological abnormality of the gastrointestinal tract	2130	EWSR1	ORPHA:83469
HP:0012718	Morphological abnormality of the gastrointestinal tract	7490	WT1	ORPHA:83469
HP:0012718	Morphological abnormality of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0012718	Morphological abnormality of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0012718	Morphological abnormality of the gastrointestinal tract	26153	KIF26A	OMIM:620156
HP:0012718	Morphological abnormality of the gastrointestinal tract	23314	SATB2	ORPHA:576283
HP:0012718	Morphological abnormality of the gastrointestinal tract	51322	WAC	ORPHA:284169
HP:0012718	Morphological abnormality of the gastrointestinal tract	51256	TBC1D7	OMIM:248000
HP:0012718	Morphological abnormality of the gastrointestinal tract	8651	SOCS1	OMIM:619375
HP:0012718	Morphological abnormality of the gastrointestinal tract	6777	STAT5B	OMIM:618985
HP:0012718	Morphological abnormality of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	23534	TNPO3	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0012718	Morphological abnormality of the gastrointestinal tract	10847	SRCAP	OMIM:136140
HP:0012718	Morphological abnormality of the gastrointestinal tract	10847	SRCAP	ORPHA:2044
HP:0012718	Morphological abnormality of the gastrointestinal tract	29998	BICRA	OMIM:619325
HP:0012718	Morphological abnormality of the gastrointestinal tract	4953	ODC1	ORPHA:544488
HP:0012718	Morphological abnormality of the gastrointestinal tract	11146	GLMN	ORPHA:83454
HP:0012718	Morphological abnormality of the gastrointestinal tract	8647	ABCB11	OMIM:601847
HP:0012718	Morphological abnormality of the gastrointestinal tract	5205	ATP8B1	OMIM:211600
HP:0012718	Morphological abnormality of the gastrointestinal tract	23600	AMACR	OMIM:214950
HP:0012718	Morphological abnormality of the gastrointestinal tract	716	C1S	OMIM:617174
HP:0012718	Morphological abnormality of the gastrointestinal tract	4913	NTHL1	ORPHA:454840
HP:0012718	Morphological abnormality of the gastrointestinal tract	4913	NTHL1	OMIM:616415
HP:0012718	Morphological abnormality of the gastrointestinal tract	8930	MBD4	OMIM:619975
HP:0012718	Morphological abnormality of the gastrointestinal tract	4092	SMAD7	OMIM:612229
HP:0012718	Morphological abnormality of the gastrointestinal tract	4595	MUTYH	OMIM:608456
HP:0012718	Morphological abnormality of the gastrointestinal tract	6223	RPS19	OMIM:105650
HP:0012718	Morphological abnormality of the gastrointestinal tract	4193	MDM2	ORPHA:524
HP:0012718	Morphological abnormality of the gastrointestinal tract	9184	BUB3	ORPHA:1052
HP:0012718	Morphological abnormality of the gastrointestinal tract	9702	CEP57	ORPHA:1052
HP:0012718	Morphological abnormality of the gastrointestinal tract	9319	TRIP13	ORPHA:1052
HP:0012718	Morphological abnormality of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0012718	Morphological abnormality of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0012718	Morphological abnormality of the gastrointestinal tract	2304	FOXE1	ORPHA:319487
HP:0012718	Morphological abnormality of the gastrointestinal tract	3026	HABP2	ORPHA:319487
HP:0012718	Morphological abnormality of the gastrointestinal tract	9562	MINPP1	ORPHA:319487
HP:0012718	Morphological abnormality of the gastrointestinal tract	4437	MSH3	ORPHA:480536
HP:0012718	Morphological abnormality of the gastrointestinal tract	1244	ABCC2	ORPHA:234
HP:0012718	Morphological abnormality of the gastrointestinal tract	10225	CD96	ORPHA:1308
HP:0012718	Morphological abnormality of the gastrointestinal tract	58484	NLRC4	OMIM:616050
HP:0012718	Morphological abnormality of the gastrointestinal tract	26873	OPLAH	OMIM:260005
HP:0012718	Morphological abnormality of the gastrointestinal tract	10269	ZMPSTE24	ORPHA:1662
HP:0012718	Morphological abnormality of the gastrointestinal tract	3190	HNRNPK	ORPHA:453504
HP:0012718	Morphological abnormality of the gastrointestinal tract	3190	HNRNPK	ORPHA:352665
HP:0012718	Morphological abnormality of the gastrointestinal tract	4558	MT-TF	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4572	MT-TQ	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4512	MT-CO1	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4513	MT-CO2	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4514	MT-CO3	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4578	MT-TW	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4540	MT-ND5	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4541	MT-ND6	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4535	MT-ND1	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4538	MT-ND4	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4574	MT-TS1	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4575	MT-TS2	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	4564	MT-TH	ORPHA:550
HP:0012718	Morphological abnormality of the gastrointestinal tract	56652	TWNK	OMIM:607459
HP:0012718	Morphological abnormality of the gastrointestinal tract	56652	TWNK	ORPHA:70595
HP:0012718	Morphological abnormality of the gastrointestinal tract	151648	SGO1	OMIM:616201
HP:0012718	Morphological abnormality of the gastrointestinal tract	3423	IDS	OMIM:309900
HP:0012718	Morphological abnormality of the gastrointestinal tract	3980	LIG3	OMIM:619780
HP:0012718	Morphological abnormality of the gastrointestinal tract	6392	SDHD	ORPHA:201
HP:0012718	Morphological abnormality of the gastrointestinal tract	205717	USF3	ORPHA:201
HP:0012718	Morphological abnormality of the gastrointestinal tract	100144748	KLLN	ORPHA:201
HP:0012718	Morphological abnormality of the gastrointestinal tract	11277	TREX1	OMIM:225750
HP:0012718	Morphological abnormality of the gastrointestinal tract	64359	NXN	ORPHA:1507
HP:0012718	Morphological abnormality of the gastrointestinal tract	4920	ROR2	ORPHA:1507
HP:0012718	Morphological abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:143
HP:0012718	Morphological abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:99880
HP:0012718	Morphological abnormality of the gastrointestinal tract	1175	AP2S1	OMIM:600740
HP:0012718	Morphological abnormality of the gastrointestinal tract	2767	GNA11	OMIM:145981
HP:0012718	Morphological abnormality of the gastrointestinal tract	6572	SLC18A3	OMIM:617239
HP:0012718	Morphological abnormality of the gastrointestinal tract	2984	GUCY2C	OMIM:614665
HP:0012718	Morphological abnormality of the gastrointestinal tract	2022	ENG	ORPHA:329971
HP:0012718	Morphological abnormality of the gastrointestinal tract	2317	FLNB	ORPHA:1190
HP:0012718	Morphological abnormality of the gastrointestinal tract	2475	MTOR	ORPHA:457485
HP:0012718	Morphological abnormality of the gastrointestinal tract	5238	PGM3	ORPHA:443811
HP:0012718	Morphological abnormality of the gastrointestinal tract	6304	SATB1	OMIM:619229
HP:0012718	Morphological abnormality of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0012718	Morphological abnormality of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0012718	Morphological abnormality of the gastrointestinal tract	51008	ASCC1	OMIM:614266
HP:0012718	Morphological abnormality of the gastrointestinal tract	5321	PLA2G4A	OMIM:618372
HP:0012718	Morphological abnormality of the gastrointestinal tract	1024	CDK8	OMIM:618748
HP:0012718	Morphological abnormality of the gastrointestinal tract	29940	DSE	ORPHA:2953
HP:0012718	Morphological abnormality of the gastrointestinal tract	54361	WNT4	ORPHA:139466
HP:0012718	Morphological abnormality of the gastrointestinal tract	53834	FGFRL1	OMIM:194190
HP:0012718	Morphological abnormality of the gastrointestinal tract	1487	CTBP1	OMIM:194190
HP:0012718	Morphological abnormality of the gastrointestinal tract	3954	LETM1	OMIM:194190
HP:0012718	Morphological abnormality of the gastrointestinal tract	7468	NSD2	OMIM:194190
HP:0012718	Morphological abnormality of the gastrointestinal tract	10815	CPLX1	OMIM:194190
HP:0012718	Morphological abnormality of the gastrointestinal tract	5727	PTCH1	OMIM:109400
HP:0012718	Morphological abnormality of the gastrointestinal tract	488	ATP2A2	ORPHA:218
HP:0012718	Morphological abnormality of the gastrointestinal tract	26191	PTPN22	ORPHA:900
HP:0012718	Morphological abnormality of the gastrointestinal tract	3115	HLA-DPB1	ORPHA:900
HP:0012718	Morphological abnormality of the gastrointestinal tract	5657	PRTN3	ORPHA:900
HP:0012718	Morphological abnormality of the gastrointestinal tract	3113	HLA-DPA1	ORPHA:900
HP:0012718	Morphological abnormality of the gastrointestinal tract	4598	MVK	ORPHA:343
HP:0012718	Morphological abnormality of the gastrointestinal tract	2131	EXT1	ORPHA:321
HP:0012718	Morphological abnormality of the gastrointestinal tract	4609	MYC	ORPHA:543
HP:0012718	Morphological abnormality of the gastrointestinal tract	6905	TBCE	ORPHA:2323
HP:0012718	Morphological abnormality of the gastrointestinal tract	7132	TNFRSF1A	ORPHA:32960
HP:0012718	Morphological abnormality of the gastrointestinal tract	5317	PKP1	ORPHA:158668
HP:0012718	Morphological abnormality of the gastrointestinal tract	2694	CBLIF	OMIM:261000
HP:0012718	Morphological abnormality of the gastrointestinal tract	3689	ITGB2	OMIM:116920
HP:0012718	Morphological abnormality of the gastrointestinal tract	5880	RAC2	OMIM:608203
HP:0012718	Morphological abnormality of the gastrointestinal tract	710	SERPING1	ORPHA:100050
HP:0012718	Morphological abnormality of the gastrointestinal tract	710	SERPING1	OMIM:106100
HP:0012718	Morphological abnormality of the gastrointestinal tract	2161	F12	OMIM:610618
HP:0012718	Morphological abnormality of the gastrointestinal tract	3514	IGKC	ORPHA:183675
HP:0012718	Morphological abnormality of the gastrointestinal tract	3501	IGHG2	ORPHA:183675
HP:0012718	Morphological abnormality of the gastrointestinal tract	4659	PPP1R12A	OMIM:618820
HP:0012718	Morphological abnormality of the gastrointestinal tract	407975	MIR17HG	ORPHA:391646
HP:0012718	Morphological abnormality of the gastrointestinal tract	8604	SLC25A12	OMIM:612949
HP:0012718	Morphological abnormality of the gastrointestinal tract	4927	NUP88	ORPHA:994
HP:0012718	Morphological abnormality of the gastrointestinal tract	4654	MYOD1	ORPHA:994
HP:0012718	Morphological abnormality of the gastrointestinal tract	4593	MUSK	ORPHA:994
HP:0012718	Morphological abnormality of the gastrointestinal tract	5913	RAPSN	ORPHA:994
HP:0012718	Morphological abnormality of the gastrointestinal tract	285489	DOK7	ORPHA:994
HP:0012718	Morphological abnormality of the gastrointestinal tract	5424	POLD1	OMIM:612591
HP:0012718	Morphological abnormality of the gastrointestinal tract	6714	SRC	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	201163	FLCN	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	10395	DLC1	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	11200	CHEK2	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	8313	AXIN2	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	2033	EP300	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	5782	PTPN12	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	5320	PLA2G2A	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	6790	AURKA	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	1630	DCC	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	581	BAX	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	25788	RAD54B	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	595	CCND1	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	699	BUB1	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	701	BUB1B	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	2261	FGFR3	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	7097	TLR2	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	4893	NRAS	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	7157	TP53	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	4163	MCC	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	207	AKT1	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	5157	PDGFRL	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	5795	PTPRJ	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	673	BRAF	OMIM:114500
HP:0012718	Morphological abnormality of the gastrointestinal tract	8314	BAP1	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	4286	MITF	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	1019	CDK4	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	4255	MGMT	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	54386	TERF2IP	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	4157	MC1R	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	1029	CDKN2A	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	25913	POT1	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	1030	CDKN2B	ORPHA:618
HP:0012718	Morphological abnormality of the gastrointestinal tract	4089	SMAD4	OMIM:174900
HP:0012718	Morphological abnormality of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0012718	Morphological abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0012718	Morphological abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0012718	Morphological abnormality of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0012718	Morphological abnormality of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0012718	Morphological abnormality of the gastrointestinal tract	5573	PRKAR1A	ORPHA:1359
HP:0012718	Morphological abnormality of the gastrointestinal tract	50940	PDE11A	ORPHA:1359
HP:0012718	Morphological abnormality of the gastrointestinal tract	92579	G6PC3	OMIM:612541
HP:0012718	Morphological abnormality of the gastrointestinal tract	22806	IKZF3	OMIM:619437
HP:0012718	Morphological abnormality of the gastrointestinal tract	3588	IL10RB	OMIM:612567
HP:0012718	Morphological abnormality of the gastrointestinal tract	1991	ELANE	ORPHA:2686
HP:0012718	Morphological abnormality of the gastrointestinal tract	29926	GMPPA	OMIM:615510
HP:0012718	Morphological abnormality of the gastrointestinal tract	3655	ITGA6	OMIM:619817
HP:0012718	Morphological abnormality of the gastrointestinal tract	65057	ACD	OMIM:616553
HP:0012718	Morphological abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:89842
HP:0012718	Morphological abnormality of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0012718	Morphological abnormality of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0012718	Morphological abnormality of the gastrointestinal tract	6651	SON	OMIM:617140
HP:0012718	Morphological abnormality of the gastrointestinal tract	29925	GMPPB	OMIM:615351
HP:0012718	Morphological abnormality of the gastrointestinal tract	6049	RNF6	ORPHA:99977
HP:0012718	Morphological abnormality of the gastrointestinal tract	6049	RNF6	OMIM:133239
HP:0012718	Morphological abnormality of the gastrointestinal tract	51741	WWOX	ORPHA:99977
HP:0012718	Morphological abnormality of the gastrointestinal tract	51741	WWOX	OMIM:133239
HP:0012718	Morphological abnormality of the gastrointestinal tract	9940	DLEC1	ORPHA:99977
HP:0012718	Morphological abnormality of the gastrointestinal tract	11178	LZTS1	OMIM:133239
HP:0012718	Morphological abnormality of the gastrointestinal tract	55898	UNC45A	OMIM:619377
HP:0012718	Morphological abnormality of the gastrointestinal tract	7482	WNT2B	OMIM:618168
HP:0012718	Morphological abnormality of the gastrointestinal tract	79796	ALG9	ORPHA:79328
HP:0012718	Morphological abnormality of the gastrointestinal tract	10195	ALG3	OMIM:601110
HP:0012718	Morphological abnormality of the gastrointestinal tract	3559	IL2RA	OMIM:606367
HP:0012718	Morphological abnormality of the gastrointestinal tract	3553	IL1B	OMIM:613659
HP:0012718	Morphological abnormality of the gastrointestinal tract	3557	IL1RN	OMIM:613659
HP:0012718	Morphological abnormality of the gastrointestinal tract	3659	IRF1	OMIM:613659
HP:0012718	Morphological abnormality of the gastrointestinal tract	1316	KLF6	OMIM:613659
HP:0012718	Morphological abnormality of the gastrointestinal tract	7373	COL14A1	ORPHA:79501
HP:0012718	Morphological abnormality of the gastrointestinal tract	79719	AAGAB	ORPHA:79501
HP:0012718	Morphological abnormality of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0012718	Morphological abnormality of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0012718	Morphological abnormality of the gastrointestinal tract	51604	PIGT	ORPHA:369837
HP:0012718	Morphological abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	6469	SHH	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	6491	STIL	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	50937	CDON	ORPHA:220386
HP:0012718	Morphological abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93926
HP:0012718	Morphological abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93924
HP:0012718	Morphological abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	4010	LMX1B	ORPHA:2614
HP:0012718	Morphological abnormality of the gastrointestinal tract	23007	PLCH1	ORPHA:93925
HP:0012718	Morphological abnormality of the gastrointestinal tract	4621	MYH3	ORPHA:2990
HP:0012718	Morphological abnormality of the gastrointestinal tract	1146	CHRNG	ORPHA:2990
HP:0012718	Morphological abnormality of the gastrointestinal tract	55209	SETD5	ORPHA:404440
HP:0012718	Morphological abnormality of the gastrointestinal tract	9935	MAFB	ORPHA:233
HP:0012718	Morphological abnormality of the gastrointestinal tract	1123	CHN1	ORPHA:233
HP:0012718	Morphological abnormality of the gastrointestinal tract	341640	FREM2	OMIM:617666
HP:0012718	Morphological abnormality of the gastrointestinal tract	5889	RAD51C	OMIM:613390
HP:0012718	Morphological abnormality of the gastrointestinal tract	57217	TTC7A	OMIM:243150
HP:0012718	Morphological abnormality of the gastrointestinal tract	26123	TCTN3	ORPHA:2753
HP:0012718	Morphological abnormality of the gastrointestinal tract	55593	OTUD5	OMIM:301056
HP:0012718	Morphological abnormality of the gastrointestinal tract	3643	INSR	ORPHA:508
HP:0012718	Morphological abnormality of the gastrointestinal tract	7276	TTR	ORPHA:85451
HP:0012718	Morphological abnormality of the gastrointestinal tract	3938	LCT	OMIM:223000
HP:0012718	Morphological abnormality of the gastrointestinal tract	4175	MCM6	OMIM:223100
HP:0012718	Morphological abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:298
HP:0012718	Morphological abnormality of the gastrointestinal tract	56983	POGLUT1	ORPHA:79145
HP:0012718	Morphological abnormality of the gastrointestinal tract	3852	KRT5	ORPHA:79145
HP:0012718	Morphological abnormality of the gastrointestinal tract	23509	POFUT1	ORPHA:79145
HP:0012718	Morphological abnormality of the gastrointestinal tract	55851	PSENEN	ORPHA:79145
HP:0012718	Morphological abnormality of the gastrointestinal tract	79827	CLMP	OMIM:615237
HP:0012718	Morphological abnormality of the gastrointestinal tract	72	ACTG2	OMIM:155310
HP:0012718	Morphological abnormality of the gastrointestinal tract	567	B2M	ORPHA:314652
HP:0012718	Morphological abnormality of the gastrointestinal tract	3716	JAK1	OMIM:618999
HP:0012718	Morphological abnormality of the gastrointestinal tract	7128	TNFAIP3	OMIM:616744
HP:0012718	Morphological abnormality of the gastrointestinal tract	5970	RELA	OMIM:618287
HP:0012718	Morphological abnormality of the gastrointestinal tract	6868	ADAM17	OMIM:614328
HP:0012718	Morphological abnormality of the gastrointestinal tract	8547	FCN3	OMIM:613860
HP:0012718	Morphological abnormality of the gastrointestinal tract	37	ACADVL	OMIM:201475
HP:0012718	Morphological abnormality of the gastrointestinal tract	6809	STX3	OMIM:619445
HP:0012718	Morphological abnormality of the gastrointestinal tract	6135	RPL11	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6138	RPL15	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6229	RPS24	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6125	RPL5	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6204	RPS10	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6165	RPL35A	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6232	RPS27	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6231	RPS26	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	11224	RPL35	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6160	RPL31	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6218	RPS17	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6201	RPS7	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6155	RPL27	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6154	RPL26	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6210	RPS15A	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	90121	TSR2	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6141	RPL18	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6235	RPS29	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	6234	RPS28	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	51816	ADA2	ORPHA:124
HP:0012718	Morphological abnormality of the gastrointestinal tract	5426	POLE	ORPHA:447877
HP:0012718	Morphological abnormality of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0012718	Morphological abnormality of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0012718	Morphological abnormality of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0012718	Morphological abnormality of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0012718	Morphological abnormality of the gastrointestinal tract	60468	BACH2	OMIM:618394
HP:0012718	Morphological abnormality of the gastrointestinal tract	55765	INAVA	OMIM:618077
HP:0012718	Morphological abnormality of the gastrointestinal tract	10747	MASP2	OMIM:613791
HP:0012718	Morphological abnormality of the gastrointestinal tract	27178	IL37	OMIM:619398
HP:0012718	Morphological abnormality of the gastrointestinal tract	84433	CARD11	OMIM:617638
HP:0012718	Morphological abnormality of the gastrointestinal tract	5336	PLCG2	OMIM:614878
HP:0012718	Morphological abnormality of the gastrointestinal tract	2271	FH	ORPHA:523
HP:0012718	Morphological abnormality of the gastrointestinal tract	1794	DOCK2	OMIM:616433
HP:0012718	Morphological abnormality of the gastrointestinal tract	5966	REL	OMIM:619652
HP:0012718	Morphological abnormality of the gastrointestinal tract	60684	TRAPPC11	OMIM:615356
HP:0012718	Morphological abnormality of the gastrointestinal tract	3376	IARS1	ORPHA:541423
HP:0012718	Morphological abnormality of the gastrointestinal tract	2887	GRB10	ORPHA:96182
HP:0012718	Morphological abnormality of the gastrointestinal tract	6812	STXBP1	ORPHA:495818
HP:0012718	Morphological abnormality of the gastrointestinal tract	5723	PSPH	ORPHA:79350
HP:0012718	Morphological abnormality of the gastrointestinal tract	26227	PHGDH	ORPHA:79351
HP:0012718	Morphological abnormality of the gastrointestinal tract	10526	IPO8	OMIM:619472
HP:0012718	Morphological abnormality of the gastrointestinal tract	54894	RNF43	ORPHA:157798
HP:0012718	Morphological abnormality of the gastrointestinal tract	64220	STRA6	ORPHA:2470
HP:0012718	Morphological abnormality of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0012718	Morphological abnormality of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0012718	Morphological abnormality of the gastrointestinal tract	2778	GNAS	OMIM:174800
HP:0012718	Morphological abnormality of the gastrointestinal tract	10483	SEC23B	OMIM:616858
HP:0012718	Morphological abnormality of the gastrointestinal tract	9817	KEAP1	ORPHA:276399
HP:0012718	Morphological abnormality of the gastrointestinal tract	23405	DICER1	ORPHA:276399
HP:0012718	Morphological abnormality of the gastrointestinal tract	4088	SMAD3	OMIM:613795
HP:0012718	Morphological abnormality of the gastrointestinal tract	7046	TGFBR1	OMIM:609192
HP:0012718	Morphological abnormality of the gastrointestinal tract	81704	DOCK8	OMIM:243700
HP:0012718	Morphological abnormality of the gastrointestinal tract	7042	TGFB2	OMIM:614816
HP:0012719	Functional abnormality of the gastrointestinal tract	1497	CTNS	OMIM:219800
HP:0012719	Functional abnormality of the gastrointestinal tract	2673	GFPT1	OMIM:608931
HP:0012719	Functional abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:608931
HP:0012719	Functional abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:605809
HP:0012719	Functional abnormality of the gastrointestinal tract	1410	CRYAB	OMIM:608810
HP:0012719	Functional abnormality of the gastrointestinal tract	1410	CRYAB	ORPHA:399058
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	OMIM:109150
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276238
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276244
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276241
HP:0012719	Functional abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:614381
HP:0012719	Functional abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:607694
HP:0012719	Functional abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616321
HP:0012719	Functional abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616323
HP:0012719	Functional abnormality of the gastrointestinal tract	4750	NEK1	OMIM:617892
HP:0012719	Functional abnormality of the gastrointestinal tract	23446	SLC44A1	OMIM:618868
HP:0012719	Functional abnormality of the gastrointestinal tract	4593	MUSK	OMIM:616325
HP:0012719	Functional abnormality of the gastrointestinal tract	2720	GLB1	OMIM:230600
HP:0012719	Functional abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:608930
HP:0012719	Functional abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:601462
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:247604
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:280384
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:209951
HP:0012719	Functional abnormality of the gastrointestinal tract	9499	MYOT	ORPHA:266
HP:0012719	Functional abnormality of the gastrointestinal tract	5339	PLEC	ORPHA:254361
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:99013
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	OMIM:607259
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:35689
HP:0012719	Functional abnormality of the gastrointestinal tract	8291	DYSF	ORPHA:268
HP:0012719	Functional abnormality of the gastrointestinal tract	4536	MT-ND2	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4537	MT-ND3	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4577	MT-TV	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4566	MT-TK	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309162
HP:0012719	Functional abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309169
HP:0012719	Functional abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:143
HP:0012719	Functional abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:99880
HP:0012719	Functional abnormality of the gastrointestinal tract	6536	SLC6A9	OMIM:617301
HP:0012719	Functional abnormality of the gastrointestinal tract	10528	NOP56	OMIM:614153
HP:0012719	Functional abnormality of the gastrointestinal tract	10528	NOP56	ORPHA:276198
HP:0012719	Functional abnormality of the gastrointestinal tract	1841	DTYMK	OMIM:619847
HP:0012719	Functional abnormality of the gastrointestinal tract	790	CAD	OMIM:616457
HP:0012719	Functional abnormality of the gastrointestinal tract	5189	PEX1	OMIM:214100
HP:0012719	Functional abnormality of the gastrointestinal tract	8575	PRKRA	ORPHA:210571
HP:0012719	Functional abnormality of the gastrointestinal tract	8575	PRKRA	OMIM:612067
HP:0012719	Functional abnormality of the gastrointestinal tract	79147	FKRP	OMIM:606612
HP:0012719	Functional abnormality of the gastrointestinal tract	348	APOE	OMIM:607822
HP:0012719	Functional abnormality of the gastrointestinal tract	5663	PSEN1	OMIM:607822
HP:0012719	Functional abnormality of the gastrointestinal tract	7343	UBTF	OMIM:617672
HP:0012719	Functional abnormality of the gastrointestinal tract	7343	UBTF	ORPHA:500180
HP:0012719	Functional abnormality of the gastrointestinal tract	10352	WARS2	OMIM:619738
HP:0012719	Functional abnormality of the gastrointestinal tract	10352	WARS2	ORPHA:572798
HP:0012719	Functional abnormality of the gastrointestinal tract	3064	HTT	OMIM:617435
HP:0012719	Functional abnormality of the gastrointestinal tract	10939	AFG3L2	ORPHA:313772
HP:0012719	Functional abnormality of the gastrointestinal tract	10939	AFG3L2	OMIM:614487
HP:0012719	Functional abnormality of the gastrointestinal tract	83480	PUS3	ORPHA:488627
HP:0012719	Functional abnormality of the gastrointestinal tract	5621	PRNP	OMIM:600072
HP:0012719	Functional abnormality of the gastrointestinal tract	10049	DNAJB6	ORPHA:34516
HP:0012719	Functional abnormality of the gastrointestinal tract	10049	DNAJB6	OMIM:603511
HP:0012719	Functional abnormality of the gastrointestinal tract	4620	MYH2	OMIM:605637
HP:0012719	Functional abnormality of the gastrointestinal tract	10935	PRDX3	OMIM:619862
HP:0012719	Functional abnormality of the gastrointestinal tract	246243	RNASEH1	OMIM:616479
HP:0012719	Functional abnormality of the gastrointestinal tract	246243	RNASEH1	ORPHA:329336
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:2822
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	OMIM:604360
HP:0012719	Functional abnormality of the gastrointestinal tract	2783	GNB2	OMIM:619503
HP:0012719	Functional abnormality of the gastrointestinal tract	950	SCARB2	OMIM:254900
HP:0012719	Functional abnormality of the gastrointestinal tract	8398	PLA2G6	ORPHA:199351
HP:0012719	Functional abnormality of the gastrointestinal tract	8398	PLA2G6	OMIM:610217
HP:0012719	Functional abnormality of the gastrointestinal tract	8622	PDE8B	ORPHA:228169
HP:0012719	Functional abnormality of the gastrointestinal tract	3572	IL6ST	OMIM:619751
HP:0012719	Functional abnormality of the gastrointestinal tract	2911	GRM1	OMIM:617691
HP:0012719	Functional abnormality of the gastrointestinal tract	55773	TBC1D23	OMIM:617695
HP:0012719	Functional abnormality of the gastrointestinal tract	23259	DDHD2	OMIM:615033
HP:0012719	Functional abnormality of the gastrointestinal tract	23259	DDHD2	ORPHA:320380
HP:0012719	Functional abnormality of the gastrointestinal tract	54902	TTC19	OMIM:615157
HP:0012719	Functional abnormality of the gastrointestinal tract	2643	GCH1	OMIM:233910
HP:0012719	Functional abnormality of the gastrointestinal tract	55823	VPS11	OMIM:619637
HP:0012719	Functional abnormality of the gastrointestinal tract	8659	ALDH4A1	ORPHA:79101
HP:0012719	Functional abnormality of the gastrointestinal tract	1180	CLCN1	OMIM:255700
HP:0012719	Functional abnormality of the gastrointestinal tract	5860	QDPR	ORPHA:226
HP:0012719	Functional abnormality of the gastrointestinal tract	5860	QDPR	OMIM:261630
HP:0012719	Functional abnormality of the gastrointestinal tract	7750	ZMYM2	OMIM:619522
HP:0012719	Functional abnormality of the gastrointestinal tract	56947	MFF	ORPHA:485421
HP:0012719	Functional abnormality of the gastrointestinal tract	56947	MFF	OMIM:617086
HP:0012719	Functional abnormality of the gastrointestinal tract	10342	TFG	ORPHA:90117
HP:0012719	Functional abnormality of the gastrointestinal tract	57462	MYORG	OMIM:618317
HP:0012719	Functional abnormality of the gastrointestinal tract	9562	MINPP1	OMIM:619527
HP:0012719	Functional abnormality of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0012719	Functional abnormality of the gastrointestinal tract	4626	MYH8	OMIM:158300
HP:0012719	Functional abnormality of the gastrointestinal tract	57724	EPG5	OMIM:242840
HP:0012719	Functional abnormality of the gastrointestinal tract	1436	CSF1R	OMIM:221820
HP:0012719	Functional abnormality of the gastrointestinal tract	5354	PLP1	OMIM:312080
HP:0012719	Functional abnormality of the gastrointestinal tract	4123	MAN2C1	OMIM:619775
HP:0012719	Functional abnormality of the gastrointestinal tract	339855	KY	OMIM:617114
HP:0012719	Functional abnormality of the gastrointestinal tract	339855	KY	ORPHA:496689
HP:0012719	Functional abnormality of the gastrointestinal tract	79977	GRHL2	OMIM:616029
HP:0012719	Functional abnormality of the gastrointestinal tract	23499	MACF1	OMIM:618325
HP:0012719	Functional abnormality of the gastrointestinal tract	23499	MACF1	ORPHA:572013
HP:0012719	Functional abnormality of the gastrointestinal tract	2055	CLN8	ORPHA:1947
HP:0012719	Functional abnormality of the gastrointestinal tract	5837	PYGM	ORPHA:368
HP:0012719	Functional abnormality of the gastrointestinal tract	2512	FTL	ORPHA:157846
HP:0012719	Functional abnormality of the gastrointestinal tract	2512	FTL	OMIM:606159
HP:0012719	Functional abnormality of the gastrointestinal tract	10533	ATG7	OMIM:619422
HP:0012719	Functional abnormality of the gastrointestinal tract	51117	COQ4	OMIM:616276
HP:0012719	Functional abnormality of the gastrointestinal tract	120	ADD3	OMIM:617008
HP:0012719	Functional abnormality of the gastrointestinal tract	27429	HTRA2	OMIM:617248
HP:0012719	Functional abnormality of the gastrointestinal tract	5081	PAX7	OMIM:618578
HP:0012719	Functional abnormality of the gastrointestinal tract	1674	DES	OMIM:181400
HP:0012719	Functional abnormality of the gastrointestinal tract	79751	SLC25A22	ORPHA:1935
HP:0012719	Functional abnormality of the gastrointestinal tract	150094	SIK1	ORPHA:1935
HP:0012719	Functional abnormality of the gastrointestinal tract	2639	GCDH	ORPHA:25
HP:0012719	Functional abnormality of the gastrointestinal tract	4487	MSX1	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	5818	NECTIN1	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	8626	TP63	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	3664	IRF6	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	353116	RILPL1	OMIM:619790
HP:0012719	Functional abnormality of the gastrointestinal tract	23111	SPART	OMIM:275900
HP:0012719	Functional abnormality of the gastrointestinal tract	23111	SPART	ORPHA:101000
HP:0012719	Functional abnormality of the gastrointestinal tract	2775	GNAO1	OMIM:617493
HP:0012719	Functional abnormality of the gastrointestinal tract	56896	DPYSL5	OMIM:619435
HP:0012719	Functional abnormality of the gastrointestinal tract	54892	NCAPG2	OMIM:618460
HP:0012719	Functional abnormality of the gastrointestinal tract	79912	PYROXD1	OMIM:617258
HP:0012719	Functional abnormality of the gastrointestinal tract	4719	NDUFS1	OMIM:618226
HP:0012719	Functional abnormality of the gastrointestinal tract	170302	ARX	OMIM:308350
HP:0012719	Functional abnormality of the gastrointestinal tract	91942	NDUFAF2	OMIM:618233
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254886
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254875
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	OMIM:617069
HP:0012719	Functional abnormality of the gastrointestinal tract	81790	RNF170	OMIM:619686
HP:0012719	Functional abnormality of the gastrointestinal tract	84909	AOPEP	OMIM:619565
HP:0012719	Functional abnormality of the gastrointestinal tract	25814	ATXN10	OMIM:603516
HP:0012719	Functional abnormality of the gastrointestinal tract	5649	RELN	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	10300	KATNB1	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	54820	NDE1	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	4722	NDUFS3	OMIM:618230
HP:0012719	Functional abnormality of the gastrointestinal tract	710	SERPING1	ORPHA:100050
HP:0012719	Functional abnormality of the gastrointestinal tract	387119	CEP85L	ORPHA:572013
HP:0012719	Functional abnormality of the gastrointestinal tract	6904	TBCD	ORPHA:496641
HP:0012719	Functional abnormality of the gastrointestinal tract	427	ASAH1	OMIM:159950
HP:0012719	Functional abnormality of the gastrointestinal tract	427	ASAH1	ORPHA:2590
HP:0012719	Functional abnormality of the gastrointestinal tract	10059	DNM1L	ORPHA:98673
HP:0012719	Functional abnormality of the gastrointestinal tract	4976	OPA1	ORPHA:98673
HP:0012719	Functional abnormality of the gastrointestinal tract	4976	OPA1	OMIM:210000
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98794
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98795
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:411511
HP:0012719	Functional abnormality of the gastrointestinal tract	4948	OCA2	ORPHA:98794
HP:0012719	Functional abnormality of the gastrointestinal tract	5980	REV3L	ORPHA:570
HP:0012719	Functional abnormality of the gastrointestinal tract	23129	PLXND1	ORPHA:570
HP:0012719	Functional abnormality of the gastrointestinal tract	65055	REEP1	ORPHA:101011
HP:0012719	Functional abnormality of the gastrointestinal tract	65055	REEP1	OMIM:610250
HP:0012719	Functional abnormality of the gastrointestinal tract	351	APP	ORPHA:324708
HP:0012719	Functional abnormality of the gastrointestinal tract	56915	EXOSC5	OMIM:619576
HP:0012719	Functional abnormality of the gastrointestinal tract	51132	RLIM	OMIM:300978
HP:0012719	Functional abnormality of the gastrointestinal tract	10588	MTHFS	OMIM:618367
HP:0012719	Functional abnormality of the gastrointestinal tract	4704	NDUFA9	OMIM:618247
HP:0012719	Functional abnormality of the gastrointestinal tract	29978	UBQLN2	OMIM:300857
HP:0012719	Functional abnormality of the gastrointestinal tract	8260	NAA10	OMIM:300855
HP:0012719	Functional abnormality of the gastrointestinal tract	182	JAG1	OMIM:619574
HP:0012719	Functional abnormality of the gastrointestinal tract	54834	GDAP2	OMIM:618369
HP:0012719	Functional abnormality of the gastrointestinal tract	1201	CLN3	ORPHA:228346
HP:0012719	Functional abnormality of the gastrointestinal tract	4864	NPC1	OMIM:257220
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:684
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99735
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99736
HP:0012719	Functional abnormality of the gastrointestinal tract	5805	PTS	ORPHA:13
HP:0012719	Functional abnormality of the gastrointestinal tract	5805	PTS	OMIM:261640
HP:0012719	Functional abnormality of the gastrointestinal tract	51102	MECR	OMIM:617282
HP:0012719	Functional abnormality of the gastrointestinal tract	51102	MECR	ORPHA:508093
HP:0012719	Functional abnormality of the gastrointestinal tract	51324	SPG21	ORPHA:101001
HP:0012719	Functional abnormality of the gastrointestinal tract	51324	SPG21	OMIM:248900
HP:0012719	Functional abnormality of the gastrointestinal tract	5631	PRPS1	OMIM:301835
HP:0012719	Functional abnormality of the gastrointestinal tract	3977	LIFR	OMIM:601559
HP:0012719	Functional abnormality of the gastrointestinal tract	2705	GJB1	OMIM:302800
HP:0012719	Functional abnormality of the gastrointestinal tract	4761	NEUROD2	OMIM:618374
HP:0012719	Functional abnormality of the gastrointestinal tract	4700	NDUFA6	OMIM:618253
HP:0012719	Functional abnormality of the gastrointestinal tract	51305	KCNK9	ORPHA:166108
HP:0012719	Functional abnormality of the gastrointestinal tract	51305	KCNK9	OMIM:612292
HP:0012719	Functional abnormality of the gastrointestinal tract	1200	TPP1	OMIM:609270
HP:0012719	Functional abnormality of the gastrointestinal tract	220296	HEPACAM	OMIM:613925
HP:0012719	Functional abnormality of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0012719	Functional abnormality of the gastrointestinal tract	55975	KLHL7	OMIM:617055
HP:0012719	Functional abnormality of the gastrointestinal tract	55697	VAC14	OMIM:617054
HP:0012719	Functional abnormality of the gastrointestinal tract	2318	FLNC	ORPHA:63273
HP:0012719	Functional abnormality of the gastrointestinal tract	7345	UCHL1	OMIM:620221
HP:0012719	Functional abnormality of the gastrointestinal tract	7204	TRIO	OMIM:617061
HP:0012719	Functional abnormality of the gastrointestinal tract	8567	MADD	OMIM:619004
HP:0012719	Functional abnormality of the gastrointestinal tract	29123	ANKRD11	ORPHA:261250
HP:0012719	Functional abnormality of the gastrointestinal tract	23230	VPS13A	OMIM:200150
HP:0012719	Functional abnormality of the gastrointestinal tract	23230	VPS13A	ORPHA:2388
HP:0012719	Functional abnormality of the gastrointestinal tract	498	ATP5F1A	OMIM:620358
HP:0012719	Functional abnormality of the gastrointestinal tract	2799	GNS	OMIM:252940
HP:0012719	Functional abnormality of the gastrointestinal tract	1893	ECM1	ORPHA:530
HP:0012719	Functional abnormality of the gastrointestinal tract	1716	DGUOK	OMIM:617070
HP:0012719	Functional abnormality of the gastrointestinal tract	1716	DGUOK	ORPHA:329314
HP:0012719	Functional abnormality of the gastrointestinal tract	10273	STUB1	ORPHA:412057
HP:0012719	Functional abnormality of the gastrointestinal tract	10273	STUB1	OMIM:618093
HP:0012719	Functional abnormality of the gastrointestinal tract	7415	VCP	OMIM:613954
HP:0012719	Functional abnormality of the gastrointestinal tract	7415	VCP	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	138050	HGSNAT	OMIM:252930
HP:0012719	Functional abnormality of the gastrointestinal tract	84081	NSRP1	OMIM:620001
HP:0012719	Functional abnormality of the gastrointestinal tract	5216	PFN1	OMIM:614808
HP:0012719	Functional abnormality of the gastrointestinal tract	1678	TIMM8A	ORPHA:52368
HP:0012719	Functional abnormality of the gastrointestinal tract	1678	TIMM8A	OMIM:304700
HP:0012719	Functional abnormality of the gastrointestinal tract	4914	NTRK1	ORPHA:642
HP:0012719	Functional abnormality of the gastrointestinal tract	64432	MRPS25	OMIM:619025
HP:0012719	Functional abnormality of the gastrointestinal tract	84842	HPDL	OMIM:619027
HP:0012719	Functional abnormality of the gastrointestinal tract	2747	GLUD2	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	126	ADH1C	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	4929	NR4A2	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6908	TBP	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6908	TBP	OMIM:607136
HP:0012719	Functional abnormality of the gastrointestinal tract	4576	MT-TT	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	9627	SNCAIP	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:183090
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	ORPHA:98760
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:608768
HP:0012719	Functional abnormality of the gastrointestinal tract	4771	NF2	ORPHA:637
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	OMIM:168601
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:171695
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	5605	MAP2K2	ORPHA:638
HP:0012719	Functional abnormality of the gastrointestinal tract	4763	NF1	ORPHA:638
HP:0012719	Functional abnormality of the gastrointestinal tract	80308	FLAD1	OMIM:255100
HP:0012719	Functional abnormality of the gastrointestinal tract	9782	MATR3	OMIM:606070
HP:0012719	Functional abnormality of the gastrointestinal tract	9782	MATR3	ORPHA:600
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	OMIM:615911
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:276435
HP:0012719	Functional abnormality of the gastrointestinal tract	8878	SQSTM1	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	8878	SQSTM1	OMIM:616437
HP:0012719	Functional abnormality of the gastrointestinal tract	23435	TARDBP	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	23435	TARDBP	OMIM:612069
HP:0012719	Functional abnormality of the gastrointestinal tract	29110	TBK1	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	29110	TBK1	OMIM:616439
HP:0012719	Functional abnormality of the gastrointestinal tract	5111	PCNA	OMIM:615919
HP:0012719	Functional abnormality of the gastrointestinal tract	4758	NEU1	ORPHA:93399
HP:0012719	Functional abnormality of the gastrointestinal tract	79581	SLC52A2	OMIM:614707
HP:0012719	Functional abnormality of the gastrointestinal tract	131377	KLHL40	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	131377	KLHL40	OMIM:615348
HP:0012719	Functional abnormality of the gastrointestinal tract	56203	LMOD3	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	4010	LMX1B	ORPHA:495818
HP:0012719	Functional abnormality of the gastrointestinal tract	6812	STXBP1	ORPHA:495818
HP:0012719	Functional abnormality of the gastrointestinal tract	271	AMPD2	OMIM:615809
HP:0012719	Functional abnormality of the gastrointestinal tract	2483	FRG1	OMIM:158900
HP:0012719	Functional abnormality of the gastrointestinal tract	64207	IRF2BPL	OMIM:618088
HP:0012719	Functional abnormality of the gastrointestinal tract	146862	UNC45B	OMIM:619178
HP:0012719	Functional abnormality of the gastrointestinal tract	29967	LRP12	OMIM:164310
HP:0012719	Functional abnormality of the gastrointestinal tract	9570	GOSR2	OMIM:620166
HP:0012719	Functional abnormality of the gastrointestinal tract	26278	SACS	ORPHA:98
HP:0012719	Functional abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261552
HP:0012719	Functional abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261537
HP:0012719	Functional abnormality of the gastrointestinal tract	57190	SELENON	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	4633	MYL2	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	3679	ITGA7	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	9200	HACD1	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	51776	MAP3K20	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	79152	FA2H	ORPHA:329308
HP:0012719	Functional abnormality of the gastrointestinal tract	23400	ATP13A2	ORPHA:306674
HP:0012719	Functional abnormality of the gastrointestinal tract	23400	ATP13A2	OMIM:606693
HP:0012719	Functional abnormality of the gastrointestinal tract	1641	DCX	ORPHA:2148
HP:0012719	Functional abnormality of the gastrointestinal tract	1600	DAB1	OMIM:615945
HP:0012719	Functional abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211530
HP:0012719	Functional abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211500
HP:0012719	Functional abnormality of the gastrointestinal tract	2395	FXN	ORPHA:95
HP:0012719	Functional abnormality of the gastrointestinal tract	23533	PIK3R5	ORPHA:64753
HP:0012719	Functional abnormality of the gastrointestinal tract	23064	SETX	ORPHA:64753
HP:0012719	Functional abnormality of the gastrointestinal tract	23064	SETX	OMIM:606002
HP:0012719	Functional abnormality of the gastrointestinal tract	3211	HOXB1	OMIM:614744
HP:0012719	Functional abnormality of the gastrointestinal tract	146057	TTBK2	ORPHA:98767
HP:0012719	Functional abnormality of the gastrointestinal tract	3748	KCNC3	ORPHA:98768
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:264090
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	ORPHA:447896
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:607694
HP:0012719	Functional abnormality of the gastrointestinal tract	80704	SLC19A3	OMIM:607483
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	OMIM:234200
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	OMIM:607236
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216873
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216866
HP:0012719	Functional abnormality of the gastrointestinal tract	92667	MGME1	ORPHA:352447
HP:0012719	Functional abnormality of the gastrointestinal tract	724066	ATXN8	ORPHA:98760
HP:0012719	Functional abnormality of the gastrointestinal tract	724066	ATXN8	OMIM:608768
HP:0012719	Functional abnormality of the gastrointestinal tract	492	ATP2B3	OMIM:302500
HP:0012719	Functional abnormality of the gastrointestinal tract	3251	HPRT1	OMIM:300322
HP:0012719	Functional abnormality of the gastrointestinal tract	3208	HPCA	OMIM:224500
HP:0012719	Functional abnormality of the gastrointestinal tract	10280	SIGMAR1	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	255928	SYT14	ORPHA:284271
HP:0012719	Functional abnormality of the gastrointestinal tract	255928	SYT14	OMIM:614229
HP:0012719	Functional abnormality of the gastrointestinal tract	9409	PEX16	OMIM:614877
HP:0012719	Functional abnormality of the gastrointestinal tract	9440	MED17	OMIM:613668
HP:0012719	Functional abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:2363
HP:0012719	Functional abnormality of the gastrointestinal tract	2255	FGF10	ORPHA:2363
HP:0012719	Functional abnormality of the gastrointestinal tract	7443	VRK1	OMIM:607596
HP:0012719	Functional abnormality of the gastrointestinal tract	8106	PABPN1	OMIM:164300
HP:0012719	Functional abnormality of the gastrointestinal tract	8314	BAP1	ORPHA:50251
HP:0012719	Functional abnormality of the gastrointestinal tract	6310	ATXN1	ORPHA:98755
HP:0012719	Functional abnormality of the gastrointestinal tract	6310	ATXN1	OMIM:164400
HP:0012719	Functional abnormality of the gastrointestinal tract	10133	OPTN	OMIM:613435
HP:0012719	Functional abnormality of the gastrointestinal tract	85021	REPS1	OMIM:617916
HP:0012719	Functional abnormality of the gastrointestinal tract	3752	KCND3	OMIM:607346
HP:0012719	Functional abnormality of the gastrointestinal tract	6314	ATXN7	ORPHA:94147
HP:0012719	Functional abnormality of the gastrointestinal tract	6314	ATXN7	OMIM:164500
HP:0012719	Functional abnormality of the gastrointestinal tract	2776	GNAQ	ORPHA:3205
HP:0012719	Functional abnormality of the gastrointestinal tract	25793	FBXO7	ORPHA:171695
HP:0012719	Functional abnormality of the gastrointestinal tract	51067	YARS2	OMIM:613561
HP:0012719	Functional abnormality of the gastrointestinal tract	80199	FUZ	ORPHA:1136
HP:0012719	Functional abnormality of the gastrointestinal tract	7407	VARS1	OMIM:617802
HP:0012719	Functional abnormality of the gastrointestinal tract	10382	TUBB4A	OMIM:128101
HP:0012719	Functional abnormality of the gastrointestinal tract	10382	TUBB4A	ORPHA:98805
HP:0012719	Functional abnormality of the gastrointestinal tract	1861	TOR1A	OMIM:128100
HP:0012719	Functional abnormality of the gastrointestinal tract	54704	PDP1	OMIM:608782
HP:0012719	Functional abnormality of the gastrointestinal tract	55906	ZC4H2	OMIM:301041
HP:0012719	Functional abnormality of the gastrointestinal tract	2982	GUCY1A1	OMIM:615750
HP:0012719	Functional abnormality of the gastrointestinal tract	9420	CYP7B1	ORPHA:100986
HP:0012719	Functional abnormality of the gastrointestinal tract	29926	GMPPA	OMIM:615510
HP:0012719	Functional abnormality of the gastrointestinal tract	57704	GBA2	ORPHA:352641
HP:0012719	Functional abnormality of the gastrointestinal tract	79587	CARS2	ORPHA:477774
HP:0012719	Functional abnormality of the gastrointestinal tract	2782	GNB1	OMIM:616973
HP:0012719	Functional abnormality of the gastrointestinal tract	79644	SRD5A3	OMIM:612379
HP:0012719	Functional abnormality of the gastrointestinal tract	25953	PNKD	OMIM:118800
HP:0012719	Functional abnormality of the gastrointestinal tract	2058	EPRS1	OMIM:617951
HP:0012719	Functional abnormality of the gastrointestinal tract	23317	DNAJC13	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	1981	EIF4G1	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	55737	VPS35	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	120892	LRRK2	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	26058	GIGYF2	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	2917	GRM7	OMIM:618922
HP:0012719	Functional abnormality of the gastrointestinal tract	311	ANXA11	OMIM:617839
HP:0012719	Functional abnormality of the gastrointestinal tract	5582	PRKCG	OMIM:605361
HP:0012719	Functional abnormality of the gastrointestinal tract	9217	VAPB	OMIM:608627
HP:0012719	Functional abnormality of the gastrointestinal tract	3418	IDH2	ORPHA:163634
HP:0012719	Functional abnormality of the gastrointestinal tract	3417	IDH1	ORPHA:163634
HP:0012719	Functional abnormality of the gastrointestinal tract	79784	MYH14	ORPHA:397744
HP:0012719	Functional abnormality of the gastrointestinal tract	84617	TUBB6	OMIM:617732
HP:0012719	Functional abnormality of the gastrointestinal tract	25915	NDUFAF3	ORPHA:70474
HP:0012719	Functional abnormality of the gastrointestinal tract	4714	NDUFB8	ORPHA:70474
HP:0012719	Functional abnormality of the gastrointestinal tract	4720	NDUFS2	ORPHA:70474
HP:0012719	Functional abnormality of the gastrointestinal tract	9997	SCO2	ORPHA:70474
HP:0012719	Functional abnormality of the gastrointestinal tract	6834	SURF1	ORPHA:70474
HP:0012719	Functional abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363722
HP:0012719	Functional abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363717
HP:0012719	Functional abnormality of the gastrointestinal tract	122553	TRAPPC6B	OMIM:617862
HP:0012719	Functional abnormality of the gastrointestinal tract	28957	MRPS28	OMIM:618958
HP:0012719	Functional abnormality of the gastrointestinal tract	8292	COLQ	ORPHA:98915
HP:0012719	Functional abnormality of the gastrointestinal tract	8292	COLQ	OMIM:603034
HP:0012719	Functional abnormality of the gastrointestinal tract	3913	LAMB2	ORPHA:98915
HP:0012719	Functional abnormality of the gastrointestinal tract	51	ACOX1	OMIM:264470
HP:0012719	Functional abnormality of the gastrointestinal tract	51	ACOX1	OMIM:618960
HP:0012719	Functional abnormality of the gastrointestinal tract	10577	NPC2	OMIM:607625
HP:0012719	Functional abnormality of the gastrointestinal tract	8913	CACNA1G	ORPHA:458803
HP:0012719	Functional abnormality of the gastrointestinal tract	8913	CACNA1G	OMIM:616795
HP:0012719	Functional abnormality of the gastrointestinal tract	22943	DKK1	ORPHA:268882
HP:0012719	Functional abnormality of the gastrointestinal tract	7515	XRCC1	OMIM:617633
HP:0012719	Functional abnormality of the gastrointestinal tract	4359	MPZ	OMIM:607736
HP:0012719	Functional abnormality of the gastrointestinal tract	4747	NEFL	OMIM:607734
HP:0012719	Functional abnormality of the gastrointestinal tract	367	AR	OMIM:313200
HP:0012719	Functional abnormality of the gastrointestinal tract	23394	ADNP	ORPHA:404448
HP:0012719	Functional abnormality of the gastrointestinal tract	23394	ADNP	OMIM:615873
HP:0012719	Functional abnormality of the gastrointestinal tract	26235	FBXL4	OMIM:615471
HP:0012719	Functional abnormality of the gastrointestinal tract	8367	H4C5	OMIM:619950
HP:0012719	Functional abnormality of the gastrointestinal tract	340533	NEXMIF	OMIM:300912
HP:0012719	Functional abnormality of the gastrointestinal tract	340533	NEXMIF	ORPHA:85277
HP:0012719	Functional abnormality of the gastrointestinal tract	57128	LYRM4	OMIM:615595
HP:0012719	Functional abnormality of the gastrointestinal tract	8518	ELP1	ORPHA:1764
HP:0012719	Functional abnormality of the gastrointestinal tract	8518	ELP1	OMIM:223900
HP:0012719	Functional abnormality of the gastrointestinal tract	8425	LTBP4	OMIM:613177
HP:0012719	Functional abnormality of the gastrointestinal tract	1161	ERCC8	ORPHA:90324
HP:0012719	Functional abnormality of the gastrointestinal tract	2074	ERCC6	ORPHA:90324
HP:0012719	Functional abnormality of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0012719	Functional abnormality of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0012719	Functional abnormality of the gastrointestinal tract	51008	ASCC1	OMIM:614266
HP:0012719	Functional abnormality of the gastrointestinal tract	5238	PGM3	ORPHA:443811
HP:0012719	Functional abnormality of the gastrointestinal tract	4897	NRCAM	OMIM:619833
HP:0012719	Functional abnormality of the gastrointestinal tract	81857	MED25	OMIM:616449
HP:0012719	Functional abnormality of the gastrointestinal tract	79848	CSPP1	ORPHA:397715
HP:0012719	Functional abnormality of the gastrointestinal tract	9786	KIAA0586	ORPHA:397715
HP:0012719	Functional abnormality of the gastrointestinal tract	4312	MMP1	ORPHA:79408
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79408
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:89842
HP:0012719	Functional abnormality of the gastrointestinal tract	7259	TSPYL1	OMIM:608800
HP:0012719	Functional abnormality of the gastrointestinal tract	7259	TSPYL1	ORPHA:168593
HP:0012719	Functional abnormality of the gastrointestinal tract	116931	MED12L	OMIM:618872
HP:0012719	Functional abnormality of the gastrointestinal tract	161582	DNAAF4	OMIM:615482
HP:0012719	Functional abnormality of the gastrointestinal tract	3020	H3-3A	OMIM:619720
HP:0012719	Functional abnormality of the gastrointestinal tract	3021	H3-3B	OMIM:619721
HP:0012719	Functional abnormality of the gastrointestinal tract	65993	MRPS34	OMIM:617664
HP:0012719	Functional abnormality of the gastrointestinal tract	80816	ASXL3	OMIM:615485
HP:0012719	Functional abnormality of the gastrointestinal tract	283489	CHAMP1	OMIM:616579
HP:0012719	Functional abnormality of the gastrointestinal tract	8239	USP9X	OMIM:300919
HP:0012719	Functional abnormality of the gastrointestinal tract	166378	AFG2A	OMIM:616577
HP:0012719	Functional abnormality of the gastrointestinal tract	84466	MEGF10	OMIM:614399
HP:0012719	Functional abnormality of the gastrointestinal tract	84520	GON7	OMIM:619603
HP:0012719	Functional abnormality of the gastrointestinal tract	55636	CHD7	ORPHA:138
HP:0012719	Functional abnormality of the gastrointestinal tract	9723	SEMA3E	ORPHA:138
HP:0012719	Functional abnormality of the gastrointestinal tract	3908	LAMA2	ORPHA:258
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	1890	TYMP	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	3980	LIG3	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	6660	SOX5	ORPHA:313892
HP:0012719	Functional abnormality of the gastrointestinal tract	535	ATP6V0A1	OMIM:619971
HP:0012719	Functional abnormality of the gastrointestinal tract	3190	HNRNPK	OMIM:616580
HP:0012719	Functional abnormality of the gastrointestinal tract	816	CAMK2B	OMIM:617799
HP:0012719	Functional abnormality of the gastrointestinal tract	9968	MED12	ORPHA:93932
HP:0012719	Functional abnormality of the gastrointestinal tract	7994	KAT6A	ORPHA:457193
HP:0012719	Functional abnormality of the gastrointestinal tract	7994	KAT6A	OMIM:616268
HP:0012719	Functional abnormality of the gastrointestinal tract	1183	CLCN4	ORPHA:485350
HP:0012719	Functional abnormality of the gastrointestinal tract	5832	ALDH18A1	OMIM:601162
HP:0012719	Functional abnormality of the gastrointestinal tract	5832	ALDH18A1	ORPHA:447757
HP:0012719	Functional abnormality of the gastrointestinal tract	1277	COL1A1	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	1289	COL5A1	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	1290	COL5A2	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	7020	TFAP2A	OMIM:113620
HP:0012719	Functional abnormality of the gastrointestinal tract	10484	SEC23A	OMIM:607812
HP:0012719	Functional abnormality of the gastrointestinal tract	22872	SEC31A	OMIM:618651
HP:0012719	Functional abnormality of the gastrointestinal tract	4297	KMT2A	ORPHA:319182
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	23007	PLCH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	10735	STAG2	OMIM:301043
HP:0012719	Functional abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	3737	KCNA2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1759	DNM1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	8120	AP3B2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	523	ATP6V1A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10991	SLC38A3	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10991	SLC38A3	OMIM:619881
HP:0012719	Functional abnormality of the gastrointestinal tract	51343	FZR1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	22906	TRAK1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2566	GABRG2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1917	EEF1A2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2561	GABRB2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	8831	SYNGAP1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	7532	YWHAG	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	79876	UBA5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	79876	UBA5	OMIM:617132
HP:0012719	Functional abnormality of the gastrointestinal tract	6328	SCN3A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2558	GABRA5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	781	CACNA2D1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2906	GRIN2D	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	116150	NUS1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10659	CELF2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	774	CACNA1B	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	774	CACNA1B	OMIM:618497
HP:0012719	Functional abnormality of the gastrointestinal tract	1213	CLTC	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1213	CLTC	OMIM:617854
HP:0012719	Functional abnormality of the gastrointestinal tract	51741	WWOX	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	23334	SZT2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	51412	ACTL6B	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	348980	HCN1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	6506	SLC1A2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	8867	SYNJ1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2258	FGF13	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	477	ATP1A2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	3745	KCNB1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	284111	SLC13A5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	25977	NECAP1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	16	AARS1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	6334	SCN8A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	22866	CNKSR2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	9568	GABBR2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2555	GABRA2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	55152	DALRD3	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	773	CACNA1A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	26999	CYFIP2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	4915	NTRK2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	25973	PARS2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	23097	CDK19	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	64801	ARV1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	64801	ARV1	OMIM:617020
HP:0012719	Functional abnormality of the gastrointestinal tract	79947	DHDDS	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2257	FGF12	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	5530	PPP3CA	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	253738	EBF3	OMIM:617330
HP:0012719	Functional abnormality of the gastrointestinal tract	2261	FGFR3	OMIM:616482
HP:0012719	Functional abnormality of the gastrointestinal tract	9895	TECPR2	OMIM:615031
HP:0012719	Functional abnormality of the gastrointestinal tract	8493	PPM1D	OMIM:617450
HP:0012719	Functional abnormality of the gastrointestinal tract	23126	POGZ	OMIM:616364
HP:0012719	Functional abnormality of the gastrointestinal tract	23126	POGZ	ORPHA:468678
HP:0012719	Functional abnormality of the gastrointestinal tract	27125	AFF4	OMIM:616368
HP:0012719	Functional abnormality of the gastrointestinal tract	27125	AFF4	ORPHA:444077
HP:0012719	Functional abnormality of the gastrointestinal tract	51692	CPSF3	OMIM:619876
HP:0012719	Functional abnormality of the gastrointestinal tract	8021	NUP214	OMIM:618426
HP:0012719	Functional abnormality of the gastrointestinal tract	5590	PRKCZ	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	2563	GABRD	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	23013	SPEN	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	23013	SPEN	OMIM:619312
HP:0012719	Functional abnormality of the gastrointestinal tract	8510	MMP23B	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	7798	LUZP1	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	6497	SKI	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	6497	SKI	ORPHA:2462
HP:0012719	Functional abnormality of the gastrointestinal tract	6497	SKI	OMIM:182212
HP:0012719	Functional abnormality of the gastrointestinal tract	10630	PDPN	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	3339	HSPG2	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	10277	UBE4B	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	8514	KCNAB2	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	473	RERE	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	473	RERE	ORPHA:494344
HP:0012719	Functional abnormality of the gastrointestinal tract	473	RERE	OMIM:616975
HP:0012719	Functional abnormality of the gastrointestinal tract	63976	PRDM16	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	54897	CASZ1	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:459070
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	OMIM:300998
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:435938
HP:0012719	Functional abnormality of the gastrointestinal tract	415	ARSL	ORPHA:79345
HP:0012719	Functional abnormality of the gastrointestinal tract	1859	DYRK1A	ORPHA:464311
HP:0012719	Functional abnormality of the gastrointestinal tract	1859	DYRK1A	ORPHA:268261
HP:0012719	Functional abnormality of the gastrointestinal tract	79796	ALG9	ORPHA:79328
HP:0012719	Functional abnormality of the gastrointestinal tract	4247	MGAT2	ORPHA:79329
HP:0012719	Functional abnormality of the gastrointestinal tract	3785	KCNQ2	ORPHA:1949
HP:0012719	Functional abnormality of the gastrointestinal tract	3786	KCNQ3	ORPHA:1949
HP:0012719	Functional abnormality of the gastrointestinal tract	11231	SEC63	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	5589	PRKCSH	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	4041	LRP5	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:619525
HP:0012719	Functional abnormality of the gastrointestinal tract	9772	TMEM94	OMIM:618316
HP:0012719	Functional abnormality of the gastrointestinal tract	51341	ZBTB7A	OMIM:619769
HP:0012719	Functional abnormality of the gastrointestinal tract	9338	TCEAL1	OMIM:301094
HP:0012719	Functional abnormality of the gastrointestinal tract	6925	TCF4	OMIM:610954
HP:0012719	Functional abnormality of the gastrointestinal tract	6925	TCF4	ORPHA:2896
HP:0012719	Functional abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:1713
HP:0012719	Functional abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	23314	SATB2	ORPHA:576283
HP:0012719	Functional abnormality of the gastrointestinal tract	23556	PIGN	OMIM:614080
HP:0012719	Functional abnormality of the gastrointestinal tract	23556	PIGN	ORPHA:2059
HP:0012719	Functional abnormality of the gastrointestinal tract	23556	PIGN	ORPHA:280633
HP:0012719	Functional abnormality of the gastrointestinal tract	23162	MAPK8IP3	OMIM:618443
HP:0012719	Functional abnormality of the gastrointestinal tract	54941	RNF125	OMIM:616260
HP:0012719	Functional abnormality of the gastrointestinal tract	197258	FCSK	OMIM:618324
HP:0012719	Functional abnormality of the gastrointestinal tract	79989	IFT56	OMIM:619534
HP:0012719	Functional abnormality of the gastrointestinal tract	85365	ALG2	OMIM:607906
HP:0012719	Functional abnormality of the gastrointestinal tract	259232	NALCN	OMIM:616266
HP:0012719	Functional abnormality of the gastrointestinal tract	259232	NALCN	OMIM:615419
HP:0012719	Functional abnormality of the gastrointestinal tract	25836	NIPBL	OMIM:122470
HP:0012719	Functional abnormality of the gastrointestinal tract	25836	NIPBL	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	23219	FBXO28	OMIM:619777
HP:0012719	Functional abnormality of the gastrointestinal tract	51322	WAC	ORPHA:466950
HP:0012719	Functional abnormality of the gastrointestinal tract	79087	ALG12	ORPHA:79324
HP:0012719	Functional abnormality of the gastrointestinal tract	2200	FBN1	OMIM:184900
HP:0012719	Functional abnormality of the gastrointestinal tract	2200	FBN1	ORPHA:2462
HP:0012719	Functional abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:611816
HP:0012719	Functional abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:135500
HP:0012719	Functional abnormality of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0012719	Functional abnormality of the gastrointestinal tract	25970	SH2B1	ORPHA:261197
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:618332
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353281
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:180849
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353277
HP:0012719	Functional abnormality of the gastrointestinal tract	8621	CDK13	OMIM:617360
HP:0012719	Functional abnormality of the gastrointestinal tract	58497	PRUNE1	ORPHA:544469
HP:0012719	Functional abnormality of the gastrointestinal tract	1642	DDB1	OMIM:619426
HP:0012719	Functional abnormality of the gastrointestinal tract	6857	SYT1	OMIM:618218
HP:0012719	Functional abnormality of the gastrointestinal tract	6857	SYT1	ORPHA:522077
HP:0012719	Functional abnormality of the gastrointestinal tract	389827	MYMK	OMIM:254940
HP:0012719	Functional abnormality of the gastrointestinal tract	2902	GRIN1	ORPHA:208447
HP:0012719	Functional abnormality of the gastrointestinal tract	2902	GRIN1	OMIM:619814
HP:0012719	Functional abnormality of the gastrointestinal tract	291	SLC25A4	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	56652	TWNK	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	11232	POLG2	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	11232	POLG2	OMIM:610131
HP:0012719	Functional abnormality of the gastrointestinal tract	9361	LONP1	OMIM:600373
HP:0012719	Functional abnormality of the gastrointestinal tract	9361	LONP1	ORPHA:79243
HP:0012719	Functional abnormality of the gastrointestinal tract	6477	SIAH1	OMIM:619314
HP:0012719	Functional abnormality of the gastrointestinal tract	4000	LMNA	OMIM:619793
HP:0012719	Functional abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:617137
HP:0012719	Functional abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:157800
HP:0012719	Functional abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	79932	KIAA0319L	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	3663	IRF5	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	3663	IRF5	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	3123	HLA-DRB1	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	3123	HLA-DRB1	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	55869	HDAC8	OMIM:300882
HP:0012719	Functional abnormality of the gastrointestinal tract	55869	HDAC8	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	6299	SALL1	OMIM:107480
HP:0012719	Functional abnormality of the gastrointestinal tract	29998	BICRA	OMIM:619325
HP:0012719	Functional abnormality of the gastrointestinal tract	63895	PIEZO2	OMIM:617146
HP:0012719	Functional abnormality of the gastrointestinal tract	2033	EP300	ORPHA:353284
HP:0012719	Functional abnormality of the gastrointestinal tract	2033	EP300	OMIM:180849
HP:0012719	Functional abnormality of the gastrointestinal tract	3930	LBR	ORPHA:779
HP:0012719	Functional abnormality of the gastrointestinal tract	443	ASPA	ORPHA:314911
HP:0012719	Functional abnormality of the gastrointestinal tract	4952	OCRL	ORPHA:534
HP:0012719	Functional abnormality of the gastrointestinal tract	9126	SMC3	OMIM:610759
HP:0012719	Functional abnormality of the gastrointestinal tract	9126	SMC3	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	55777	MBD5	OMIM:156200
HP:0012719	Functional abnormality of the gastrointestinal tract	112939	NACC1	OMIM:617393
HP:0012719	Functional abnormality of the gastrointestinal tract	4998	ORC1	OMIM:224690
HP:0012719	Functional abnormality of the gastrointestinal tract	54496	PRMT7	OMIM:617157
HP:0012719	Functional abnormality of the gastrointestinal tract	54551	MAGEL2	ORPHA:398069
HP:0012719	Functional abnormality of the gastrointestinal tract	54551	MAGEL2	OMIM:615547
HP:0012719	Functional abnormality of the gastrointestinal tract	5831	PYCR1	OMIM:612940
HP:0012719	Functional abnormality of the gastrointestinal tract	201163	FLCN	OMIM:610883
HP:0012719	Functional abnormality of the gastrointestinal tract	51079	NDUFA13	OMIM:618249
HP:0012719	Functional abnormality of the gastrointestinal tract	9719	ADAMTSL2	ORPHA:1901
HP:0012719	Functional abnormality of the gastrointestinal tract	9509	ADAMTS2	ORPHA:1901
HP:0012719	Functional abnormality of the gastrointestinal tract	1312	COMT	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	221037	JMJD1C	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	6239	RREB1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	6899	TBX1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	6899	TBX1	OMIM:188400
HP:0012719	Functional abnormality of the gastrointestinal tract	7290	HIRA	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	9632	SEC24C	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	7353	UFD1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	421	ARVCF	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	2778	GNAS	ORPHA:562
HP:0012719	Functional abnormality of the gastrointestinal tract	22827	PUF60	ORPHA:508488
HP:0012719	Functional abnormality of the gastrointestinal tract	3265	HRAS	ORPHA:3071
HP:0012719	Functional abnormality of the gastrointestinal tract	7703	PCGF2	OMIM:618371
HP:0012719	Functional abnormality of the gastrointestinal tract	9496	TBX4	ORPHA:261279
HP:0012719	Functional abnormality of the gastrointestinal tract	2743	GLRB	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	2743	GLRB	OMIM:614619
HP:0012719	Functional abnormality of the gastrointestinal tract	2741	GLRA1	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	10243	GPHN	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	84896	ATAD1	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	9152	SLC6A5	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	9152	SLC6A5	OMIM:614618
HP:0012719	Functional abnormality of the gastrointestinal tract	1760	DMPK	ORPHA:589821
HP:0012719	Functional abnormality of the gastrointestinal tract	372	ARCN1	OMIM:617164
HP:0012719	Functional abnormality of the gastrointestinal tract	8802	SUCLG1	ORPHA:17
HP:0012719	Functional abnormality of the gastrointestinal tract	1822	ATN1	OMIM:618494
HP:0012719	Functional abnormality of the gastrointestinal tract	3188	HNRNPH2	OMIM:300986
HP:0012719	Functional abnormality of the gastrointestinal tract	5000	ORC4	OMIM:613800
HP:0012719	Functional abnormality of the gastrointestinal tract	6304	SATB1	OMIM:619229
HP:0012719	Functional abnormality of the gastrointestinal tract	23594	ORC6	OMIM:613803
HP:0012719	Functional abnormality of the gastrointestinal tract	990	CDC6	OMIM:613805
HP:0012719	Functional abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:75497
HP:0012719	Functional abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	37	ACADVL	OMIM:201475
HP:0012719	Functional abnormality of the gastrointestinal tract	2290	FOXG1	ORPHA:261144
HP:0012719	Functional abnormality of the gastrointestinal tract	2290	FOXG1	OMIM:613454
HP:0012719	Functional abnormality of the gastrointestinal tract	54809	SAMD9	OMIM:617053
HP:0012719	Functional abnormality of the gastrointestinal tract	57003	CCDC47	OMIM:618268
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617173
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617182
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	ORPHA:542306
HP:0012719	Functional abnormality of the gastrointestinal tract	10526	IPO8	OMIM:619472
HP:0012719	Functional abnormality of the gastrointestinal tract	64840	PORCN	ORPHA:2092
HP:0012719	Functional abnormality of the gastrointestinal tract	10847	SRCAP	OMIM:619595
HP:0012719	Functional abnormality of the gastrointestinal tract	10847	SRCAP	ORPHA:2044
HP:0012719	Functional abnormality of the gastrointestinal tract	51604	PIGT	ORPHA:369837
HP:0012719	Functional abnormality of the gastrointestinal tract	246329	STAC3	ORPHA:168572
HP:0012719	Functional abnormality of the gastrointestinal tract	526	ATP6V1B2	ORPHA:79500
HP:0012719	Functional abnormality of the gastrointestinal tract	57465	TBC1D24	ORPHA:79500
HP:0012719	Functional abnormality of the gastrointestinal tract	11198	SUPT16H	OMIM:619480
HP:0012719	Functional abnormality of the gastrointestinal tract	2887	GRB10	ORPHA:96182
HP:0012719	Functional abnormality of the gastrointestinal tract	283446	MYO1H	OMIM:619482
HP:0012719	Functional abnormality of the gastrointestinal tract	6872	TAF1	OMIM:300966
HP:0012719	Functional abnormality of the gastrointestinal tract	374879	ZNF699	OMIM:619488
HP:0012719	Functional abnormality of the gastrointestinal tract	4841	NONO	OMIM:300967
HP:0012719	Functional abnormality of the gastrointestinal tract	4841	NONO	ORPHA:466791
HP:0012719	Functional abnormality of the gastrointestinal tract	5058	PAK1	OMIM:618158
HP:0012719	Functional abnormality of the gastrointestinal tract	57038	RARS2	OMIM:611523
HP:0012719	Functional abnormality of the gastrointestinal tract	8911	CACNA1I	OMIM:620114
HP:0012719	Functional abnormality of the gastrointestinal tract	10551	AGR2	OMIM:620233
HP:0012719	Functional abnormality of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1030	CDKN2B	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	80267	EDEM3	OMIM:619493
HP:0012719	Functional abnormality of the gastrointestinal tract	1650	DDOST	ORPHA:300536
HP:0012719	Functional abnormality of the gastrointestinal tract	1650	DDOST	OMIM:614507
HP:0012719	Functional abnormality of the gastrointestinal tract	6748	SSR4	ORPHA:370927
HP:0012719	Functional abnormality of the gastrointestinal tract	4508	MT-ATP6	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	23636	NUP62	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	103	ADAR	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	10479	SLC9A6	ORPHA:85278
HP:0012719	Functional abnormality of the gastrointestinal tract	1984	EIF5A	OMIM:619376
HP:0012719	Functional abnormality of the gastrointestinal tract	79651	RHBDF2	ORPHA:2198
HP:0012719	Functional abnormality of the gastrointestinal tract	5660	PSAP	ORPHA:206436
HP:0012719	Functional abnormality of the gastrointestinal tract	10079	ATP9A	OMIM:620242
HP:0012719	Functional abnormality of the gastrointestinal tract	9897	WASHC5	ORPHA:7
HP:0012719	Functional abnormality of the gastrointestinal tract	28952	CCDC22	ORPHA:7
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	OMIM:230900
HP:0012719	Functional abnormality of the gastrointestinal tract	27161	AGO2	OMIM:619149
HP:0012719	Functional abnormality of the gastrointestinal tract	55294	FBXW7	OMIM:620012
HP:0012719	Functional abnormality of the gastrointestinal tract	9325	TRIP4	ORPHA:486815
HP:0012719	Functional abnormality of the gastrointestinal tract	8243	SMC1A	OMIM:300590
HP:0012719	Functional abnormality of the gastrointestinal tract	8243	SMC1A	OMIM:301044
HP:0012719	Functional abnormality of the gastrointestinal tract	8243	SMC1A	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	8243	SMC1A	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	8506	CNTNAP1	OMIM:618186
HP:0012719	Functional abnormality of the gastrointestinal tract	55503	TRPV6	OMIM:618188
HP:0012719	Functional abnormality of the gastrointestinal tract	5885	RAD21	OMIM:614701
HP:0012719	Functional abnormality of the gastrointestinal tract	5885	RAD21	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	7355	SLC35A2	ORPHA:356961
HP:0012719	Functional abnormality of the gastrointestinal tract	7355	SLC35A2	OMIM:300896
HP:0012719	Functional abnormality of the gastrointestinal tract	673	BRAF	OMIM:115150
HP:0012719	Functional abnormality of the gastrointestinal tract	775	CACNA1C	OMIM:620029
HP:0012719	Functional abnormality of the gastrointestinal tract	10274	STAG1	ORPHA:502434
HP:0012719	Functional abnormality of the gastrointestinal tract	10274	STAG1	OMIM:617635
HP:0012719	Functional abnormality of the gastrointestinal tract	64324	NSD1	ORPHA:821
HP:0012719	Functional abnormality of the gastrointestinal tract	64324	NSD1	OMIM:117550
HP:0012719	Functional abnormality of the gastrointestinal tract	29072	SETD2	ORPHA:821
HP:0012719	Functional abnormality of the gastrointestinal tract	10297	APC2	ORPHA:821
HP:0012719	Functional abnormality of the gastrointestinal tract	5447	POR	ORPHA:95699
HP:0012719	Functional abnormality of the gastrointestinal tract	4784	NFIX	ORPHA:447980
HP:0012719	Functional abnormality of the gastrointestinal tract	6531	SLC6A3	ORPHA:238455
HP:0012719	Functional abnormality of the gastrointestinal tract	6531	SLC6A3	OMIM:613135
HP:0012719	Functional abnormality of the gastrointestinal tract	4281	MID1	OMIM:300000
HP:0012719	Functional abnormality of the gastrointestinal tract	80232	WDR26	ORPHA:513456
HP:0012719	Functional abnormality of the gastrointestinal tract	51112	TRAPPC12	ORPHA:500144
HP:0012719	Functional abnormality of the gastrointestinal tract	51506	UFC1	OMIM:618076
HP:0012719	Functional abnormality of the gastrointestinal tract	2314	FLII	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	23096	IQSEC2	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	10522	DEAF1	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	1717	DHCR7	ORPHA:818
HP:0012719	Functional abnormality of the gastrointestinal tract	1717	DHCR7	OMIM:270400
HP:0012719	Functional abnormality of the gastrointestinal tract	9915	ARNT2	OMIM:615926
HP:0012719	Functional abnormality of the gastrointestinal tract	10978	CLP1	OMIM:615803
HP:0012719	Functional abnormality of the gastrointestinal tract	429	ASCL1	ORPHA:99803
HP:0012719	Functional abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:99803
HP:0012719	Functional abnormality of the gastrointestinal tract	3119	HLA-DQB1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	9244	CRLF1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	3117	HLA-DQA1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	4842	NOS1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	4868	NPHS1	OMIM:256300
HP:0012719	Functional abnormality of the gastrointestinal tract	7298	TYMS	OMIM:620040
HP:0012719	Functional abnormality of the gastrointestinal tract	6595	SMARCA2	OMIM:619293
HP:0012719	Functional abnormality of the gastrointestinal tract	3899	AFF3	OMIM:619297
HP:0012719	Functional abnormality of the gastrointestinal tract	1136	CHRNA3	OMIM:191800
HP:0012719	Functional abnormality of the gastrointestinal tract	5119	CHMP1A	OMIM:614961
HP:0012719	Functional abnormality of the gastrointestinal tract	6440	SFTPC	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	729238	SFTPA2	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	79991	STN1	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	653509	SFTPA1	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	21	ABCA3	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	1832	DSP	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	727897	MUC5B	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	10144	FAM13A	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	23250	ATP11A	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	91039	DPP9	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7012	TERC	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	5073	PARN	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7015	TERT	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7015	TERT	OMIM:614742
HP:0012719	Functional abnormality of the gastrointestinal tract	546	ATRX	ORPHA:847
HP:0012719	Functional abnormality of the gastrointestinal tract	546	ATRX	OMIM:309580
HP:0012719	Functional abnormality of the gastrointestinal tract	546	ATRX	OMIM:301040
HP:0012719	Functional abnormality of the gastrointestinal tract	8546	AP3B1	OMIM:608233
HP:0012719	Functional abnormality of the gastrointestinal tract	4212	MEIS2	OMIM:600987
HP:0012719	Functional abnormality of the gastrointestinal tract	7156	TOP3A	OMIM:618097
HP:0012719	Functional abnormality of the gastrointestinal tract	132158	GLYCTK	OMIM:220120
HP:0012719	Functional abnormality of the gastrointestinal tract	79813	EHMT1	OMIM:610253
HP:0012719	Functional abnormality of the gastrointestinal tract	79813	EHMT1	ORPHA:261652
HP:0012719	Functional abnormality of the gastrointestinal tract	25942	SIN3A	OMIM:613406
HP:0012719	Functional abnormality of the gastrointestinal tract	53834	FGFRL1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	1487	CTBP1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	3954	LETM1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	7468	NSD2	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	10815	CPLX1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	5826	ABCD4	OMIM:614857
HP:0012719	Functional abnormality of the gastrointestinal tract	10558	SPTLC1	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	25923	ATL3	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	9517	SPTLC2	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	51062	ATL1	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	375	ARF1	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	4131	MAP1B	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	23327	NEDD4L	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	160418	TMTC3	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	10564	ARFGEF2	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	55780	ERMARD	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	7840	ALMS1	ORPHA:64
HP:0012719	Functional abnormality of the gastrointestinal tract	4204	MECP2	OMIM:300673
HP:0012719	Functional abnormality of the gastrointestinal tract	4204	MECP2	OMIM:312750
HP:0012719	Functional abnormality of the gastrointestinal tract	4204	MECP2	OMIM:300260
HP:0012719	Functional abnormality of the gastrointestinal tract	6792	CDKL5	OMIM:300672
HP:0012719	Functional abnormality of the gastrointestinal tract	56006	SMG9	OMIM:616920
HP:0012719	Functional abnormality of the gastrointestinal tract	2332	FMR1	ORPHA:908
HP:0012719	Functional abnormality of the gastrointestinal tract	2332	FMR1	ORPHA:449291
HP:0012719	Functional abnormality of the gastrointestinal tract	7461	CLIP2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	84277	DNAJC30	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	8468	FKBP6	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	5982	RFC2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2969	GTF2I	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	3984	LIMK1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	9569	GTF2IRD1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	155382	VPS37D	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	155368	METTL27	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	114049	BUD23	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	7458	EIF4H	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	84163	GTF2IRD2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	9275	BCL7B	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	26608	TBL2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	135886	TMEM270	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	51085	MLXIPL	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	51085	MLXIPL	OMIM:194050
HP:0012719	Functional abnormality of the gastrointestinal tract	9031	BAZ1B	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2006	ELN	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2006	ELN	OMIM:194050
HP:0012719	Functional abnormality of the gastrointestinal tract	10056	FARSB	OMIM:613658
HP:0012719	Functional abnormality of the gastrointestinal tract	81031	SLC2A10	ORPHA:3342
HP:0012719	Functional abnormality of the gastrointestinal tract	9289	ADGRG1	ORPHA:98889
HP:0012719	Functional abnormality of the gastrointestinal tract	5297	PI4KA	ORPHA:98889
HP:0012719	Functional abnormality of the gastrointestinal tract	27286	SRPX2	ORPHA:98889
HP:0012719	Functional abnormality of the gastrointestinal tract	8085	KMT2D	OMIM:620186
HP:0012719	Functional abnormality of the gastrointestinal tract	23137	SMC5	OMIM:620185
HP:0012719	Functional abnormality of the gastrointestinal tract	51611	DPH5	OMIM:620070
HP:0012719	Functional abnormality of the gastrointestinal tract	6558	SLC12A2	OMIM:619080
HP:0012719	Functional abnormality of the gastrointestinal tract	58508	KMT2C	ORPHA:261652
HP:0012719	Functional abnormality of the gastrointestinal tract	5594	MAPK1	OMIM:619087
HP:0012719	Functional abnormality of the gastrointestinal tract	23522	KAT6B	ORPHA:85201
HP:0012719	Functional abnormality of the gastrointestinal tract	23261	CAMTA1	OMIM:614756
HP:0012719	Functional abnormality of the gastrointestinal tract	10472	ZBTB18	OMIM:612337
HP:0012719	Functional abnormality of the gastrointestinal tract	3187	HNRNPH1	OMIM:620083
HP:0012719	Functional abnormality of the gastrointestinal tract	2535	FZD2	OMIM:164745
HP:0012719	Functional abnormality of the gastrointestinal tract	50628	GEMIN4	OMIM:617913
HP:0012719	Functional abnormality of the gastrointestinal tract	6509	SLC1A4	ORPHA:447997
HP:0012719	Functional abnormality of the gastrointestinal tract	171023	ASXL1	OMIM:605039
HP:0012719	Functional abnormality of the gastrointestinal tract	55023	PHIP	ORPHA:589905
HP:0012719	Functional abnormality of the gastrointestinal tract	54463	RETREG1	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	65125	WNK1	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	6335	SCN9A	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	547	KIF1A	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	667	DST	OMIM:614653
HP:0012719	Functional abnormality of the gastrointestinal tract	55690	PACS1	ORPHA:329224
HP:0012719	Functional abnormality of the gastrointestinal tract	51053	GMNN	OMIM:616835
HP:0012719	Functional abnormality of the gastrointestinal tract	196528	ARID2	OMIM:617808
HP:0012719	Functional abnormality of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0012719	Functional abnormality of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0012719	Functional abnormality of the gastrointestinal tract	91949	COG7	OMIM:608779
HP:0012719	Functional abnormality of the gastrointestinal tract	9780	PIEZO1	OMIM:616843
HP:0012719	Functional abnormality of the gastrointestinal tract	100151683	RNU4ATAC	OMIM:210710
HP:0012719	Functional abnormality of the gastrointestinal tract	1305	COL13A1	OMIM:616720
HP:0012719	Functional abnormality of the gastrointestinal tract	1305	COL13A1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	1280	COL2A1	ORPHA:93316
HP:0012719	Functional abnormality of the gastrointestinal tract	85358	SHANK3	OMIM:606232
HP:0012719	Functional abnormality of the gastrointestinal tract	85358	SHANK3	ORPHA:48652
HP:0012719	Functional abnormality of the gastrointestinal tract	113235	SLC46A1	ORPHA:90045
HP:0012719	Functional abnormality of the gastrointestinal tract	113179	ADAT3	ORPHA:363528
HP:0012719	Functional abnormality of the gastrointestinal tract	11151	CORO1A	OMIM:615401
HP:0012719	Functional abnormality of the gastrointestinal tract	54931	TRMT10C	OMIM:616974
HP:0012719	Functional abnormality of the gastrointestinal tract	10157	AASS	ORPHA:2203
HP:0012719	Functional abnormality of the gastrointestinal tract	3097	HIVEP2	OMIM:616977
HP:0012719	Functional abnormality of the gastrointestinal tract	1644	DDC	OMIM:608643
HP:0012719	Functional abnormality of the gastrointestinal tract	10560	SLC19A2	OMIM:249270
HP:0012719	Functional abnormality of the gastrointestinal tract	6709	SPTAN1	OMIM:613477
HP:0012719	Functional abnormality of the gastrointestinal tract	9378	NRXN1	OMIM:614325
HP:0012719	Functional abnormality of the gastrointestinal tract	5160	PDHA1	ORPHA:79243
HP:0012719	Functional abnormality of the gastrointestinal tract	84693	MCEE	OMIM:251120
HP:0012719	Functional abnormality of the gastrointestinal tract	10943	MSL3	OMIM:301032
HP:0012719	Functional abnormality of the gastrointestinal tract	5723	PSPH	ORPHA:79350
HP:0012719	Functional abnormality of the gastrointestinal tract	26227	PHGDH	ORPHA:79351
HP:0012719	Functional abnormality of the gastrointestinal tract	59336	PRDM13	OMIM:619909
HP:0012719	Functional abnormality of the gastrointestinal tract	23476	BRD4	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	7874	USP7	ORPHA:500055
HP:0012719	Functional abnormality of the gastrointestinal tract	10664	CTCF	ORPHA:363611
HP:0012719	Functional abnormality of the gastrointestinal tract	6628	SNRPB	OMIM:117650
HP:0012719	Functional abnormality of the gastrointestinal tract	29957	SLC25A24	OMIM:612289
HP:0012719	Functional abnormality of the gastrointestinal tract	80152	CENPT	OMIM:618702
HP:0012719	Functional abnormality of the gastrointestinal tract	3575	IL7R	OMIM:608971
HP:0012719	Functional abnormality of the gastrointestinal tract	90417	KNSTRN	ORPHA:221139
HP:0012719	Functional abnormality of the gastrointestinal tract	8405	SPOP	OMIM:618829
HP:0012719	Functional abnormality of the gastrointestinal tract	10128	LRPPRC	ORPHA:70472
HP:0012719	Functional abnormality of the gastrointestinal tract	83737	ITCH	OMIM:613385
HP:0012719	Functional abnormality of the gastrointestinal tract	283989	TSEN54	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	116461	TSEN15	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	79042	TSEN34	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	80746	TSEN2	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	51091	SEPSECS	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	57688	ZSWIM6	OMIM:617865
HP:0012719	Functional abnormality of the gastrointestinal tract	2890	GRIA1	OMIM:619927
HP:0012719	Functional abnormality of the gastrointestinal tract	60482	SLC5A7	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	4649	MYO9A	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	1103	CHAT	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6576	SLC25A1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6843	VAMP1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	375790	AGRN	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	127833	SYT2	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6616	SNAP25	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	7291	TWIST1	OMIM:617746
HP:0012719	Functional abnormality of the gastrointestinal tract	139285	AMER1	OMIM:300373
HP:0012719	Functional abnormality of the gastrointestinal tract	6651	SON	ORPHA:500150
HP:0012719	Functional abnormality of the gastrointestinal tract	9757	KMT2B	OMIM:619934
HP:0012719	Functional abnormality of the gastrointestinal tract	5430	POLR2A	OMIM:618603
HP:0012719	Functional abnormality of the gastrointestinal tract	57731	SPTBN4	OMIM:617519
HP:0012719	Functional abnormality of the gastrointestinal tract	29928	TIMM22	OMIM:618851
HP:0012719	Functional abnormality of the gastrointestinal tract	8803	SUCLA2	OMIM:612073
HP:0012719	Functional abnormality of the gastrointestinal tract	25871	NEPRO	OMIM:618853
HP:0012719	Functional abnormality of the gastrointestinal tract	2165	F13B	ORPHA:331
HP:0012719	Functional abnormality of the gastrointestinal tract	2162	F13A1	ORPHA:331
HP:0012719	Functional abnormality of the gastrointestinal tract	7454	WAS	OMIM:301000
HP:0012719	Functional abnormality of the gastrointestinal tract	7454	WAS	ORPHA:906
HP:0012719	Functional abnormality of the gastrointestinal tract	10616	RBCK1	OMIM:615895
HP:0012719	Functional abnormality of the gastrointestinal tract	5243	ABCB1	OMIM:612244
HP:0012719	Functional abnormality of the gastrointestinal tract	7456	WIPF1	ORPHA:906
HP:0012719	Functional abnormality of the gastrointestinal tract	8737	RIPK1	OMIM:618108
HP:0012719	Functional abnormality of the gastrointestinal tract	10095	ARPC1B	OMIM:617718
HP:0012719	Functional abnormality of the gastrointestinal tract	3106	HLA-B	OMIM:106300
HP:0012719	Functional abnormality of the gastrointestinal tract	3106	HLA-B	ORPHA:29207
HP:0012719	Functional abnormality of the gastrointestinal tract	57511	COG6	OMIM:614576
HP:0012719	Functional abnormality of the gastrointestinal tract	345611	IRGM	OMIM:612278
HP:0012719	Functional abnormality of the gastrointestinal tract	59067	IL21	OMIM:615767
HP:0012719	Functional abnormality of the gastrointestinal tract	64858	DCLRE1B	OMIM:620133
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240094
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240085
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240071
HP:0012719	Functional abnormality of the gastrointestinal tract	84665	MYPN	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	7169	TPM2	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	390594	KBTBD13	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	4703	NEB	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	10324	KLHL41	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	7170	TPM3	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	2581	GALC	ORPHA:206443
HP:0012719	Functional abnormality of the gastrointestinal tract	27235	COQ2	ORPHA:227510
HP:0012719	Functional abnormality of the gastrointestinal tract	10667	FARS2	ORPHA:466722
HP:0012719	Functional abnormality of the gastrointestinal tract	54790	TET2	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	54790	TET2	ORPHA:729
HP:0012719	Functional abnormality of the gastrointestinal tract	867	CBL	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	861	RUNX1	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	6427	SRSF2	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	875	CBS	ORPHA:394
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:274
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	OMIM:231200
HP:0012719	Functional abnormality of the gastrointestinal tract	2815	GP9	ORPHA:274
HP:0012719	Functional abnormality of the gastrointestinal tract	2815	GP9	OMIM:231200
HP:0012719	Functional abnormality of the gastrointestinal tract	229	ALDOB	OMIM:229600
HP:0012719	Functional abnormality of the gastrointestinal tract	5351	PLOD1	OMIM:225400
HP:0012719	Functional abnormality of the gastrointestinal tract	7148	TNXB	ORPHA:230839
HP:0012719	Functional abnormality of the gastrointestinal tract	80270	HSD3B7	ORPHA:79301
HP:0012719	Functional abnormality of the gastrointestinal tract	4072	EPCAM	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	4292	MLH1	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	27030	MLH3	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	22909	FAN1	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5290	PIK3CA	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	2956	MSH6	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	4436	MSH2	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	2158	F9	OMIM:306900
HP:0012719	Functional abnormality of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	7248	TSC1	ORPHA:538
HP:0012719	Functional abnormality of the gastrointestinal tract	7249	TSC2	ORPHA:538
HP:0012719	Functional abnormality of the gastrointestinal tract	2022	ENG	OMIM:187300
HP:0012719	Functional abnormality of the gastrointestinal tract	2022	ENG	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	10320	IKZF1	ORPHA:36426
HP:0012719	Functional abnormality of the gastrointestinal tract	4352	MPL	ORPHA:729
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:849
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	OMIM:273800
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:849
HP:0012719	Functional abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	55109	AGGF1	ORPHA:90308
HP:0012719	Functional abnormality of the gastrointestinal tract	2160	F11	ORPHA:329
HP:0012719	Functional abnormality of the gastrointestinal tract	2159	F10	ORPHA:328
HP:0012719	Functional abnormality of the gastrointestinal tract	9103	FCGR2C	ORPHA:3002
HP:0012719	Functional abnormality of the gastrointestinal tract	3248	HPGD	ORPHA:2796
HP:0012719	Functional abnormality of the gastrointestinal tract	6578	SLCO2A1	ORPHA:2796
HP:0012719	Functional abnormality of the gastrointestinal tract	2155	F7	ORPHA:327
HP:0012719	Functional abnormality of the gastrointestinal tract	7450	VWF	OMIM:193400
HP:0012719	Functional abnormality of the gastrointestinal tract	11277	TREX1	OMIM:192315
HP:0012719	Functional abnormality of the gastrointestinal tract	11277	TREX1	ORPHA:247691
HP:0012719	Functional abnormality of the gastrointestinal tract	493856	CISD2	ORPHA:3463
HP:0012719	Functional abnormality of the gastrointestinal tract	2243	FGA	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2243	FGA	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	2244	FGB	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2244	FGB	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	2266	FGG	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2266	FGG	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	5054	SERPINE1	ORPHA:465
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	OMIM:177850
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	ORPHA:758
HP:0012719	Functional abnormality of the gastrointestinal tract	64131	XYLT1	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	64132	XYLT2	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	3998	LMAN1	ORPHA:35909
HP:0012719	Functional abnormality of the gastrointestinal tract	90411	MCFD2	ORPHA:35909
HP:0012719	Functional abnormality of the gastrointestinal tract	10165	SLC25A13	ORPHA:247598
HP:0012719	Functional abnormality of the gastrointestinal tract	3662	IRF4	ORPHA:3452
HP:0012719	Functional abnormality of the gastrointestinal tract	3516	RBPJ	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	4851	NOTCH1	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	57514	ARHGAP31	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	57572	DOCK6	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	285203	EOGT	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	54567	DLL4	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	3673	ITGA2	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	135228	CD109	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0012719	Functional abnormality of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0012719	Functional abnormality of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	4351	MPI	ORPHA:79319
HP:0012719	Functional abnormality of the gastrointestinal tract	2157	F8	ORPHA:169805
HP:0012719	Functional abnormality of the gastrointestinal tract	2157	F8	ORPHA:169802
HP:0012719	Functional abnormality of the gastrointestinal tract	2147	F2	OMIM:613679
HP:0012719	Functional abnormality of the gastrointestinal tract	4615	MYD88	ORPHA:33226
HP:0012719	Functional abnormality of the gastrointestinal tract	5167	ENPP1	ORPHA:758
HP:0012719	Functional abnormality of the gastrointestinal tract	8328	GFI1B	OMIM:187900
HP:0012719	Functional abnormality of the gastrointestinal tract	149233	IL23R	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	6775	STAT4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	3586	IL10	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	1230	CCR1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	101928376	IL12A-AS1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	7099	TLR4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	3459	IFNGR1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	720	C4A	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	337867	UBAC2	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	51752	ERAP1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	8302	KLRC4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	9493	KIF23	ORPHA:98870
HP:0012719	Functional abnormality of the gastrointestinal tract	29127	RACGAP1	ORPHA:98870
HP:0012719	Functional abnormality of the gastrointestinal tract	1616	DAXX	ORPHA:100075
HP:0012719	Functional abnormality of the gastrointestinal tract	55699	IARS2	OMIM:616007
HP:0012719	Functional abnormality of the gastrointestinal tract	55699	IARS2	ORPHA:436174
HP:0012719	Functional abnormality of the gastrointestinal tract	6774	STAT3	OMIM:615952
HP:0012719	Functional abnormality of the gastrointestinal tract	60684	TRAPPC11	OMIM:615356
HP:0012719	Functional abnormality of the gastrointestinal tract	60684	TRAPPC11	ORPHA:869
HP:0012719	Functional abnormality of the gastrointestinal tract	8086	AAAS	ORPHA:869
HP:0012719	Functional abnormality of the gastrointestinal tract	8086	AAAS	OMIM:231550
HP:0012719	Functional abnormality of the gastrointestinal tract	2717	GLA	ORPHA:324
HP:0012719	Functional abnormality of the gastrointestinal tract	83483	PLVAP	OMIM:618183
HP:0012719	Functional abnormality of the gastrointestinal tract	57551	TAOK1	OMIM:619575
HP:0012719	Functional abnormality of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0012719	Functional abnormality of the gastrointestinal tract	23600	AMACR	OMIM:214950
HP:0012719	Functional abnormality of the gastrointestinal tract	23600	AMACR	ORPHA:79095
HP:0012719	Functional abnormality of the gastrointestinal tract	64135	IFIH1	OMIM:615846
HP:0012719	Functional abnormality of the gastrointestinal tract	4558	MT-TF	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4572	MT-TQ	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4512	MT-CO1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4513	MT-CO2	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4514	MT-CO3	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4578	MT-TW	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4540	MT-ND5	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4541	MT-ND6	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4535	MT-ND1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4538	MT-ND4	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4567	MT-TL1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4574	MT-TS1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4575	MT-TS2	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4564	MT-TH	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	28982	FLVCR1	ORPHA:88628
HP:0012719	Functional abnormality of the gastrointestinal tract	815	CAMK2A	OMIM:617798
HP:0012719	Functional abnormality of the gastrointestinal tract	59335	PRDM12	OMIM:616488
HP:0012719	Functional abnormality of the gastrointestinal tract	6507	SLC1A3	ORPHA:2131
HP:0012719	Functional abnormality of the gastrointestinal tract	128989	TANGO2	ORPHA:480864
HP:0012719	Functional abnormality of the gastrointestinal tract	1019	CDK4	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	4193	MDM2	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	8091	HMGA2	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	7466	WFS1	ORPHA:411590
HP:0012719	Functional abnormality of the gastrointestinal tract	25828	TXN2	ORPHA:478029
HP:0012719	Functional abnormality of the gastrointestinal tract	55148	UBR7	OMIM:619189
HP:0012719	Functional abnormality of the gastrointestinal tract	101060691	NUTM2B-AS1	OMIM:618637
HP:0012719	Functional abnormality of the gastrointestinal tract	2521	FUS	ORPHA:99967
HP:0012719	Functional abnormality of the gastrointestinal tract	1649	DDIT3	ORPHA:99967
HP:0012719	Functional abnormality of the gastrointestinal tract	3028	HSD17B10	ORPHA:391428
HP:0012719	Functional abnormality of the gastrointestinal tract	9051	PSTPIP1	OMIM:604416
HP:0012719	Functional abnormality of the gastrointestinal tract	355	FAS	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	5580	PRKCD	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	843	CASP10	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	10125	RASGRP1	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	51750	RTEL1	OMIM:615190
HP:0012719	Functional abnormality of the gastrointestinal tract	5422	POLA1	OMIM:301220
HP:0012719	Functional abnormality of the gastrointestinal tract	55612	FERMT1	ORPHA:2908
HP:0012719	Functional abnormality of the gastrointestinal tract	331	XIAP	OMIM:300635
HP:0012719	Functional abnormality of the gastrointestinal tract	7128	TNFAIP3	OMIM:616744
HP:0012719	Functional abnormality of the gastrointestinal tract	4261	CIITA	OMIM:209920
HP:0012719	Functional abnormality of the gastrointestinal tract	5994	RFXAP	OMIM:209920
HP:0012719	Functional abnormality of the gastrointestinal tract	5993	RFX5	OMIM:209920
HP:0012719	Functional abnormality of the gastrointestinal tract	8625	RFXANK	OMIM:209920
HP:0012719	Functional abnormality of the gastrointestinal tract	10625	IVNS1ABP	OMIM:618969
HP:0012719	Functional abnormality of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0012719	Functional abnormality of the gastrointestinal tract	6499	SKIC2	OMIM:614602
HP:0012719	Functional abnormality of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0012719	Functional abnormality of the gastrointestinal tract	3257	HPS1	OMIM:203300
HP:0012719	Functional abnormality of the gastrointestinal tract	987	LRBA	OMIM:614700
HP:0012719	Functional abnormality of the gastrointestinal tract	5293	PIK3CD	OMIM:619281
HP:0012719	Functional abnormality of the gastrointestinal tract	5551	PRF1	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	8676	STX11	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	201294	UNC13D	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	6813	STXBP2	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	6813	STXBP2	OMIM:613101
HP:0012719	Functional abnormality of the gastrointestinal tract	6850	SYK	OMIM:619381
HP:0012719	Functional abnormality of the gastrointestinal tract	2000	ELF4	OMIM:301074
HP:0012719	Functional abnormality of the gastrointestinal tract	8915	BCL10	OMIM:616098
HP:0012719	Functional abnormality of the gastrointestinal tract	23149	FCHO1	OMIM:619164
HP:0012719	Functional abnormality of the gastrointestinal tract	60468	BACH2	OMIM:618394
HP:0012719	Functional abnormality of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0012719	Functional abnormality of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0012719	Functional abnormality of the gastrointestinal tract	7535	ZAP70	OMIM:617006
HP:0012719	Functional abnormality of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0012719	Functional abnormality of the gastrointestinal tract	4689	NCF4	OMIM:613960
HP:0012719	Functional abnormality of the gastrointestinal tract	3587	IL10RA	OMIM:613148
HP:0012719	Functional abnormality of the gastrointestinal tract	5294	PIK3CG	OMIM:619802
HP:0012719	Functional abnormality of the gastrointestinal tract	338328	GPIHBP1	OMIM:615947
HP:0012719	Functional abnormality of the gastrointestinal tract	324	APC	ORPHA:261584
HP:0012719	Functional abnormality of the gastrointestinal tract	80169	CTC1	OMIM:612199
HP:0012719	Functional abnormality of the gastrointestinal tract	7010	TEK	ORPHA:1059
HP:0012719	Functional abnormality of the gastrointestinal tract	7010	TEK	OMIM:600195
HP:0012719	Functional abnormality of the gastrointestinal tract	6794	STK11	OMIM:175200
HP:0012719	Functional abnormality of the gastrointestinal tract	5728	PTEN	ORPHA:79076
HP:0012719	Functional abnormality of the gastrointestinal tract	657	BMPR1A	ORPHA:79076
HP:0012719	Functional abnormality of the gastrointestinal tract	91574	MTRFR	ORPHA:254930
HP:0012719	Functional abnormality of the gastrointestinal tract	91574	MTRFR	OMIM:613559
HP:0012719	Functional abnormality of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0012719	Functional abnormality of the gastrointestinal tract	6535	SLC6A8	OMIM:300352
HP:0012719	Functional abnormality of the gastrointestinal tract	6535	SLC6A8	ORPHA:52503
HP:0012719	Functional abnormality of the gastrointestinal tract	2130	EWSR1	ORPHA:83469
HP:0012719	Functional abnormality of the gastrointestinal tract	7490	WT1	ORPHA:83469
HP:0012719	Functional abnormality of the gastrointestinal tract	284119	CAVIN1	OMIM:613327
HP:0012719	Functional abnormality of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0012719	Functional abnormality of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0012719	Functional abnormality of the gastrointestinal tract	26153	KIF26A	OMIM:620156
HP:0012719	Functional abnormality of the gastrointestinal tract	3909	LAMA3	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	3918	LAMC2	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	3914	LAMB3	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	1308	COL17A1	ORPHA:79406
HP:0012719	Functional abnormality of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	23534	TNPO3	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	3592	IL12A	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	58484	NLRC4	OMIM:616050
HP:0012719	Functional abnormality of the gastrointestinal tract	6772	STAT1	ORPHA:391487
HP:0012719	Functional abnormality of the gastrointestinal tract	10043	TOM1	ORPHA:391487
HP:0012719	Functional abnormality of the gastrointestinal tract	26873	OPLAH	OMIM:260005
HP:0012719	Functional abnormality of the gastrointestinal tract	5336	PLCG2	OMIM:614878
HP:0012719	Functional abnormality of the gastrointestinal tract	1991	ELANE	ORPHA:2686
HP:0012719	Functional abnormality of the gastrointestinal tract	151648	SGO1	OMIM:616201
HP:0012719	Functional abnormality of the gastrointestinal tract	3423	IDS	OMIM:309900
HP:0012719	Functional abnormality of the gastrointestinal tract	672	BRCA1	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	7157	TP53	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	675	BRCA2	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	3845	KRAS	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	1029	CDKN2A	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	79728	PALB2	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	4089	SMAD4	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	6572	SLC18A3	OMIM:617239
HP:0012719	Functional abnormality of the gastrointestinal tract	2984	GUCY2C	OMIM:614665
HP:0012719	Functional abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	2947	GSTM3	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	7040	TGFB1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	7040	TGFB1	OMIM:219700
HP:0012719	Functional abnormality of the gastrointestinal tract	2729	GCLC	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1084	CEACAM3	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	6556	SLC11A1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	51164	DCTN4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3783	KCNN4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	4282	MIF	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1909	EDNRA	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	6550	SLC9A3	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3162	HMOX1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	115019	SLC26A9	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3077	HFE	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	11254	SLC6A14	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	5265	SERPINA1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1080	CFTR	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1080	CFTR	OMIM:219700
HP:0012719	Functional abnormality of the gastrointestinal tract	22802	CLCA4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	4680	CEACAM6	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	2212	FCGR2A	OMIM:219700
HP:0012719	Functional abnormality of the gastrointestinal tract	3110	MNX1	OMIM:176450
HP:0012719	Functional abnormality of the gastrointestinal tract	10312	TCIRG1	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	2672	GFI1	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	6729	SRP54	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	81570	CLPB	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	23495	TNFRSF13B	OMIM:609529
HP:0012719	Functional abnormality of the gastrointestinal tract	25839	COG4	ORPHA:263501
HP:0012719	Functional abnormality of the gastrointestinal tract	25839	COG4	OMIM:613489
HP:0012719	Functional abnormality of the gastrointestinal tract	57379	AICDA	OMIM:605258
HP:0012719	Functional abnormality of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0012719	Functional abnormality of the gastrointestinal tract	11005	SPINK5	OMIM:256500
HP:0012719	Functional abnormality of the gastrointestinal tract	4792	NFKBIA	OMIM:612132
HP:0012719	Functional abnormality of the gastrointestinal tract	50615	IL21R	OMIM:615207
HP:0012719	Functional abnormality of the gastrointestinal tract	2321	FLT1	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	219736	STOX1	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	10699	CORIN	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	1499	CTNNB1	ORPHA:873
HP:0012719	Functional abnormality of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0012719	Functional abnormality of the gastrointestinal tract	4854	NOTCH3	ORPHA:2591
HP:0012719	Functional abnormality of the gastrointestinal tract	5159	PDGFRB	ORPHA:2591
HP:0012719	Functional abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	6390	SDHB	OMIM:606764
HP:0012719	Functional abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	6391	SDHC	OMIM:606764
HP:0012719	Functional abnormality of the gastrointestinal tract	6392	SDHD	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	811	CALR	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	3717	JAK2	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	2153	F5	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	57217	TTC7A	OMIM:243150
HP:0012719	Functional abnormality of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	3815	KIT	OMIM:606764
HP:0012719	Functional abnormality of the gastrointestinal tract	1493	CTLA4	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	26191	PTPN22	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	3115	HLA-DPB1	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	5657	PRTN3	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	3113	HLA-DPA1	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	4598	MVK	ORPHA:343
HP:0012719	Functional abnormality of the gastrointestinal tract	2131	EXT1	ORPHA:321
HP:0012719	Functional abnormality of the gastrointestinal tract	2132	EXT2	ORPHA:321
HP:0012719	Functional abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:342
HP:0012719	Functional abnormality of the gastrointestinal tract	4609	MYC	ORPHA:543
HP:0012719	Functional abnormality of the gastrointestinal tract	215	ABCD1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	5979	RET	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2668	GDNF	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	6608	SMO	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1889	ECE1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	6720	SREBF1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1908	EDN3	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1908	EDN3	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	223117	SEMA3D	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	538	ATP7A	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1910	EDNRB	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1910	EDNRB	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	10512	SEMA3C	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2064	ERBB2	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2065	ERBB3	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	4902	NRTN	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2068	ERCC2	OMIM:601675
HP:0012719	Functional abnormality of the gastrointestinal tract	1604	CD55	OMIM:226300
HP:0012719	Functional abnormality of the gastrointestinal tract	3718	JAK3	OMIM:600802
HP:0012719	Functional abnormality of the gastrointestinal tract	64127	NOD2	OMIM:266600
HP:0012719	Functional abnormality of the gastrointestinal tract	3569	IL6	OMIM:266600
HP:0012719	Functional abnormality of the gastrointestinal tract	6905	TBCE	ORPHA:2323
HP:0012719	Functional abnormality of the gastrointestinal tract	7132	TNFRSF1A	ORPHA:32960
HP:0012719	Functional abnormality of the gastrointestinal tract	4286	MITF	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	6663	SOX10	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	4791	NFKB2	OMIM:615577
HP:0012719	Functional abnormality of the gastrointestinal tract	30011	SH3KBP1	OMIM:300310
HP:0012719	Functional abnormality of the gastrointestinal tract	8974	P4HA2	ORPHA:397
HP:0012719	Functional abnormality of the gastrointestinal tract	1281	COL3A1	ORPHA:286
HP:0012719	Functional abnormality of the gastrointestinal tract	3593	IL12B	ORPHA:3287
HP:0012719	Functional abnormality of the gastrointestinal tract	6945	MLX	ORPHA:3287
HP:0012719	Functional abnormality of the gastrointestinal tract	567	B2M	ORPHA:314652
HP:0012719	Functional abnormality of the gastrointestinal tract	343641	TGM6	OMIM:613908
HP:0012719	Functional abnormality of the gastrointestinal tract	343641	TGM6	ORPHA:276193
HP:0012719	Functional abnormality of the gastrointestinal tract	5654	HTRA1	ORPHA:199354
HP:0012719	Functional abnormality of the gastrointestinal tract	5917	RARS1	OMIM:616140
HP:0012719	Functional abnormality of the gastrointestinal tract	5917	RARS1	ORPHA:438114
HP:0012719	Functional abnormality of the gastrointestinal tract	1593	CYP27A1	OMIM:213700
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	OMIM:606353
HP:0012719	Functional abnormality of the gastrointestinal tract	4001	LMNB1	OMIM:169500
HP:0012719	Functional abnormality of the gastrointestinal tract	2583	B4GALNT1	ORPHA:101006
HP:0012719	Functional abnormality of the gastrointestinal tract	9896	FIG4	ORPHA:208441
HP:0012719	Functional abnormality of the gastrointestinal tract	23503	ZFYVE26	ORPHA:100996
HP:0012719	Functional abnormality of the gastrointestinal tract	60	ACTB	OMIM:607371
HP:0012719	Functional abnormality of the gastrointestinal tract	6647	SOD1	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	5630	PRPH	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	1639	DCTN1	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	4744	NEFH	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	9401	RECQL4	ORPHA:221016
HP:0012719	Functional abnormality of the gastrointestinal tract	22854	NTNG1	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	5604	MAP2K1	ORPHA:1340
HP:0012719	Functional abnormality of the gastrointestinal tract	7305	TYROBP	ORPHA:2770
HP:0012719	Functional abnormality of the gastrointestinal tract	54209	TREM2	ORPHA:2770
HP:0012719	Functional abnormality of the gastrointestinal tract	595	CCND1	ORPHA:29073
HP:0012719	Functional abnormality of the gastrointestinal tract	64682	ANAPC1	ORPHA:221008
HP:0012719	Functional abnormality of the gastrointestinal tract	1371	CPOX	ORPHA:79273
HP:0012719	Functional abnormality of the gastrointestinal tract	79827	CLMP	OMIM:615237
HP:0012719	Functional abnormality of the gastrointestinal tract	55107	ANO1	OMIM:620045
HP:0012719	Functional abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309282
HP:0012719	Functional abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309288
HP:0012719	Functional abnormality of the gastrointestinal tract	65082	VPS33A	ORPHA:505248
HP:0012719	Functional abnormality of the gastrointestinal tract	64421	DCLRE1C	ORPHA:275
HP:0012719	Functional abnormality of the gastrointestinal tract	10379	IRF9	OMIM:618648
HP:0012719	Functional abnormality of the gastrointestinal tract	916	CD3E	OMIM:615615
HP:0012719	Functional abnormality of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0012719	Functional abnormality of the gastrointestinal tract	3431	SP110	ORPHA:79124
HP:0012719	Functional abnormality of the gastrointestinal tract	55343	SLC35C1	ORPHA:99843
HP:0012719	Functional abnormality of the gastrointestinal tract	6868	ADAM17	ORPHA:294023
HP:0012719	Functional abnormality of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0012719	Functional abnormality of the gastrointestinal tract	55768	NGLY1	OMIM:615273
HP:0012719	Functional abnormality of the gastrointestinal tract	55768	NGLY1	ORPHA:404454
HP:0012719	Functional abnormality of the gastrointestinal tract	3798	KIF5A	OMIM:617235
HP:0012719	Functional abnormality of the gastrointestinal tract	9373	PLAA	ORPHA:521426
HP:0012719	Functional abnormality of the gastrointestinal tract	5376	PMP22	ORPHA:98916
HP:0012719	Functional abnormality of the gastrointestinal tract	10755	GIPC1	ORPHA:98897
HP:0012719	Functional abnormality of the gastrointestinal tract	100996717	NOTCH2NLC	ORPHA:98897
HP:0012719	Functional abnormality of the gastrointestinal tract	84433	CARD11	OMIM:617638
HP:0012719	Functional abnormality of the gastrointestinal tract	3716	JAK1	OMIM:618999
HP:0012719	Functional abnormality of the gastrointestinal tract	5277	PIGA	ORPHA:447
HP:0012719	Functional abnormality of the gastrointestinal tract	4860	PNP	ORPHA:760
HP:0012719	Functional abnormality of the gastrointestinal tract	57192	MCOLN1	OMIM:252650
HP:0012719	Functional abnormality of the gastrointestinal tract	1794	DOCK2	OMIM:616433
HP:0012719	Functional abnormality of the gastrointestinal tract	8547	FCN3	OMIM:613860
HP:0012719	Functional abnormality of the gastrointestinal tract	2271	FH	OMIM:606812
HP:0012719	Functional abnormality of the gastrointestinal tract	84992	PIGY	OMIM:616809
HP:0012719	Functional abnormality of the gastrointestinal tract	50619	DEF6	OMIM:619573
HP:0012719	Functional abnormality of the gastrointestinal tract	3588	IL10RB	OMIM:612567
HP:0012719	Functional abnormality of the gastrointestinal tract	22900	CARD8	OMIM:619079
HP:0012719	Functional abnormality of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	10747	MASP2	OMIM:613791
HP:0012719	Functional abnormality of the gastrointestinal tract	27178	IL37	OMIM:619398
HP:0012719	Functional abnormality of the gastrointestinal tract	29775	CARD10	OMIM:619632
HP:0012719	Functional abnormality of the gastrointestinal tract	55765	INAVA	OMIM:618077
HP:0012719	Functional abnormality of the gastrointestinal tract	79415	CYBC1	OMIM:618935
HP:0012719	Functional abnormality of the gastrointestinal tract	96459	FNIP1	OMIM:619705
HP:0012719	Functional abnormality of the gastrointestinal tract	5966	REL	OMIM:619652
HP:0012719	Functional abnormality of the gastrointestinal tract	6135	RPL11	OMIM:612562
HP:0012719	Functional abnormality of the gastrointestinal tract	3376	IARS1	ORPHA:541423
HP:0012719	Functional abnormality of the gastrointestinal tract	25802	LMOD1	ORPHA:2241
HP:0012719	Functional abnormality of the gastrointestinal tract	72	ACTG2	ORPHA:2241
HP:0012719	Functional abnormality of the gastrointestinal tract	4638	MYLK	ORPHA:2241
HP:0012719	Functional abnormality of the gastrointestinal tract	59	ACTA2	OMIM:613834
HP:0012719	Functional abnormality of the gastrointestinal tract	10398	MYL9	OMIM:619365
HP:0012719	Functional abnormality of the gastrointestinal tract	6515	SLC2A3	ORPHA:399
HP:0012719	Functional abnormality of the gastrointestinal tract	7528	YY1	ORPHA:506358
HP:0012719	Functional abnormality of the gastrointestinal tract	5393	EXOSC9	OMIM:618065
HP:0012719	Functional abnormality of the gastrointestinal tract	112	ADCY6	OMIM:616287
HP:0012719	Functional abnormality of the gastrointestinal tract	7314	UBB	ORPHA:99772
HP:0012719	Functional abnormality of the gastrointestinal tract	57822	GRHL3	ORPHA:99772
HP:0012719	Functional abnormality of the gastrointestinal tract	222663	SCUBE3	OMIM:619184
HP:0012719	Functional abnormality of the gastrointestinal tract	1739	DLG1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	652	BMP4	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	999	CDH1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	9411	ARHGAP29	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	1748	DLX4	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	4088	SMAD3	OMIM:613795
HP:0012719	Functional abnormality of the gastrointestinal tract	7046	TGFBR1	OMIM:609192
HP:0012719	Functional abnormality of the gastrointestinal tract	81704	DOCK8	OMIM:243700
HP:0012719	Functional abnormality of the gastrointestinal tract	7048	TGFBR2	OMIM:610168
HP:0012719	Functional abnormality of the gastrointestinal tract	1828	DSG1	OMIM:615508
HP:0012719	Functional abnormality of the gastrointestinal tract	7042	TGFB2	OMIM:614816
HP:0012719	Functional abnormality of the gastrointestinal tract	7043	TGFB3	OMIM:615582
HP:0012719	Functional abnormality of the gastrointestinal tract	55898	UNC45A	OMIM:619377
HP:0012719	Functional abnormality of the gastrointestinal tract	1777	DNASE2	OMIM:619858
HP:0002500	Abnormal cerebral white matter morphology	9342	SNAP29	OMIM:609528
HP:0002500	Abnormal cerebral white matter morphology	9342	SNAP29	ORPHA:66631
HP:0002500	Abnormal cerebral white matter morphology	51259	TMEM216	OMIM:608091
HP:0002500	Abnormal cerebral white matter morphology	4297	KMT2A	ORPHA:319182
HP:0002500	Abnormal cerebral white matter morphology	3737	KCNA2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	10991	SLC38A3	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	51343	FZR1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	22906	TRAK1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2566	GABRG2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	1917	EEF1A2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2561	GABRB2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	8831	SYNGAP1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	7532	YWHAG	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2906	GRIN2D	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	116150	NUS1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	10659	CELF2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	774	CACNA1B	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	348980	HCN1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2258	FGF13	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	3745	KCNB1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	25977	NECAP1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	16	AARS1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	6334	SCN8A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	9568	GABBR2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2555	GABRA2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	55152	DALRD3	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	773	CACNA1A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	26999	CYFIP2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	4915	NTRK2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	23097	CDK19	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	64801	ARV1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	79947	DHDDS	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2257	FGF12	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	5530	PPP3CA	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2581	GALC	ORPHA:206448
HP:0002500	Abnormal cerebral white matter morphology	8241	RBM10	ORPHA:2886
HP:0002500	Abnormal cerebral white matter morphology	267010	RNU12	ORPHA:512260
HP:0002500	Abnormal cerebral white matter morphology	3476	IGBP1	OMIM:300472
HP:0002500	Abnormal cerebral white matter morphology	3476	IGBP1	ORPHA:52055
HP:0002500	Abnormal cerebral white matter morphology	23141	ANKLE2	OMIM:616681
HP:0002500	Abnormal cerebral white matter morphology	23141	ANKLE2	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1024	CDK8	OMIM:618748
HP:0002500	Abnormal cerebral white matter morphology	10992	SF3B2	OMIM:164210
HP:0002500	Abnormal cerebral white matter morphology	2731	GLDC	OMIM:605899
HP:0002500	Abnormal cerebral white matter morphology	275	AMT	OMIM:605899
HP:0002500	Abnormal cerebral white matter morphology	55112	DYNC2I1	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	57560	IFT80	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	57539	WDR35	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	79659	DYNC2H1	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	79659	DYNC2H1	OMIM:613091
HP:0002500	Abnormal cerebral white matter morphology	89891	DYNC2I2	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	2073	ERCC5	OMIM:616570
HP:0002500	Abnormal cerebral white matter morphology	9578	CDC42BPB	OMIM:619841
HP:0002500	Abnormal cerebral white matter morphology	2737	GLI3	ORPHA:380
HP:0002500	Abnormal cerebral white matter morphology	2737	GLI3	OMIM:175700
HP:0002500	Abnormal cerebral white matter morphology	6576	SLC25A1	OMIM:618197
HP:0002500	Abnormal cerebral white matter morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002500	Abnormal cerebral white matter morphology	4867	NPHP1	ORPHA:220497
HP:0002500	Abnormal cerebral white matter morphology	22858	CILK1	OMIM:612651
HP:0002500	Abnormal cerebral white matter morphology	56623	INPP5E	ORPHA:220493
HP:0002500	Abnormal cerebral white matter morphology	54903	MKS1	ORPHA:220493
HP:0002500	Abnormal cerebral white matter morphology	54903	MKS1	OMIM:249000
HP:0002500	Abnormal cerebral white matter morphology	95681	CEP41	ORPHA:220493
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	OMIM:269160
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	OMIM:157170
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	OMIM:269160
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	51684	SUFU	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:280200
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	OMIM:614226
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	ORPHA:87
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	OMIM:123790
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	OMIM:101200
HP:0002500	Abnormal cerebral white matter morphology	56992	KIF15	ORPHA:261323
HP:0002500	Abnormal cerebral white matter morphology	1020	CDK5	OMIM:616342
HP:0002500	Abnormal cerebral white matter morphology	5173	PDYN	OMIM:610245
HP:0002500	Abnormal cerebral white matter morphology	55681	SCYL2	OMIM:618766
HP:0002500	Abnormal cerebral white matter morphology	3845	KRAS	ORPHA:2396
HP:0002500	Abnormal cerebral white matter morphology	3845	KRAS	ORPHA:3339
HP:0002500	Abnormal cerebral white matter morphology	2018	EMX2	OMIM:269160
HP:0002500	Abnormal cerebral white matter morphology	546	ATRX	ORPHA:847
HP:0002500	Abnormal cerebral white matter morphology	7080	NKX2-1	ORPHA:209905
HP:0002500	Abnormal cerebral white matter morphology	6597	SMARCA4	OMIM:614609
HP:0002500	Abnormal cerebral white matter morphology	6597	SMARCA4	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	9401	RECQL4	OMIM:218600
HP:0002500	Abnormal cerebral white matter morphology	57216	VANGL2	ORPHA:563612
HP:0002500	Abnormal cerebral white matter morphology	55697	VAC14	ORPHA:3472
HP:0002500	Abnormal cerebral white matter morphology	7469	NELFA	ORPHA:280
HP:0002500	Abnormal cerebral white matter morphology	22872	SEC31A	OMIM:618651
HP:0002500	Abnormal cerebral white matter morphology	55012	PPP2R3C	OMIM:618419
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:93926
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:93924
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	51021	MRPS16	OMIM:610498
HP:0002500	Abnormal cerebral white matter morphology	6602	SMARCD1	OMIM:618779
HP:0002500	Abnormal cerebral white matter morphology	6602	SMARCD1	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	55623	THUMPD1	OMIM:619989
HP:0002500	Abnormal cerebral white matter morphology	2074	ERCC6	OMIM:214150
HP:0002500	Abnormal cerebral white matter morphology	3192	HNRNPU	ORPHA:238769
HP:0002500	Abnormal cerebral white matter morphology	129563	DIS3L2	OMIM:267000
HP:0002500	Abnormal cerebral white matter morphology	23512	SUZ12	OMIM:618786
HP:0002500	Abnormal cerebral white matter morphology	6608	SMO	OMIM:601707
HP:0002500	Abnormal cerebral white matter morphology	6608	SMO	ORPHA:1553
HP:0002500	Abnormal cerebral white matter morphology	3052	HCCS	OMIM:309801
HP:0002500	Abnormal cerebral white matter morphology	3052	HCCS	ORPHA:2556
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	OMIM:309801
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	ORPHA:2556
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	OMIM:300952
HP:0002500	Abnormal cerebral white matter morphology	5626	PROP1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5626	PROP1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	89884	LHX4	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	89884	LHX4	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8022	LHX3	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5449	POU1F1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5449	POU1F1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	OMIM:182230
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	4519	MT-CYB	ORPHA:137675
HP:0002500	Abnormal cerebral white matter morphology	5828	PEX2	OMIM:614866
HP:0002500	Abnormal cerebral white matter morphology	5590	PRKCZ	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	2563	GABRD	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	23013	SPEN	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	23013	SPEN	OMIM:619312
HP:0002500	Abnormal cerebral white matter morphology	8510	MMP23B	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	7798	LUZP1	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	6497	SKI	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	10630	PDPN	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	3339	HSPG2	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	10277	UBE4B	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	8514	KCNAB2	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	63976	PRDM16	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	54897	CASZ1	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	6558	SLC12A2	OMIM:619083
HP:0002500	Abnormal cerebral white matter morphology	3170	FOXA2	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:990
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	83479	DDX59	ORPHA:2919
HP:0002500	Abnormal cerebral white matter morphology	83479	DDX59	OMIM:174300
HP:0002500	Abnormal cerebral white matter morphology	8481	OFD1	OMIM:311200
HP:0002500	Abnormal cerebral white matter morphology	8481	OFD1	ORPHA:2750
HP:0002500	Abnormal cerebral white matter morphology	10472	ZBTB18	OMIM:612337
HP:0002500	Abnormal cerebral white matter morphology	2271	FH	OMIM:606812
HP:0002500	Abnormal cerebral white matter morphology	57724	EPG5	OMIM:242840
HP:0002500	Abnormal cerebral white matter morphology	57724	EPG5	ORPHA:1493
HP:0002500	Abnormal cerebral white matter morphology	63895	PIEZO2	OMIM:248700
HP:0002500	Abnormal cerebral white matter morphology	63895	PIEZO2	ORPHA:2461
HP:0002500	Abnormal cerebral white matter morphology	2239	GPC4	ORPHA:373
HP:0002500	Abnormal cerebral white matter morphology	2239	GPC4	OMIM:312870
HP:0002500	Abnormal cerebral white matter morphology	2719	GPC3	ORPHA:373
HP:0002500	Abnormal cerebral white matter morphology	2719	GPC3	OMIM:312870
HP:0002500	Abnormal cerebral white matter morphology	197258	FCSK	OMIM:618324
HP:0002500	Abnormal cerebral white matter morphology	10463	SLC30A9	OMIM:617595
HP:0002500	Abnormal cerebral white matter morphology	2678	GGT1	OMIM:231950
HP:0002500	Abnormal cerebral white matter morphology	64919	BCL11B	OMIM:617237
HP:0002500	Abnormal cerebral white matter morphology	11023	VAX1	OMIM:614402
HP:0002500	Abnormal cerebral white matter morphology	257	ALX3	OMIM:136760
HP:0002500	Abnormal cerebral white matter morphology	51645	PPIL1	OMIM:619301
HP:0002500	Abnormal cerebral white matter morphology	55280	CWF19L1	ORPHA:453521
HP:0002500	Abnormal cerebral white matter morphology	164	AP1G1	OMIM:619548
HP:0002500	Abnormal cerebral white matter morphology	1801	DPH1	ORPHA:459061
HP:0002500	Abnormal cerebral white matter morphology	5888	RAD51	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	10126	DNAL4	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	9423	NTN1	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	56896	DPYSL5	OMIM:619435
HP:0002500	Abnormal cerebral white matter morphology	2879	GPX4	ORPHA:93317
HP:0002500	Abnormal cerebral white matter morphology	5396	PRRX1	OMIM:202650
HP:0002500	Abnormal cerebral white matter morphology	5396	PRRX1	ORPHA:990
HP:0002500	Abnormal cerebral white matter morphology	7545	ZIC1	OMIM:616602
HP:0002500	Abnormal cerebral white matter morphology	7545	ZIC1	OMIM:618736
HP:0002500	Abnormal cerebral white matter morphology	7473	WNT3	ORPHA:3301
HP:0002500	Abnormal cerebral white matter morphology	340419	RSPO2	ORPHA:3301
HP:0002500	Abnormal cerebral white matter morphology	23030	KDM4B	OMIM:619320
HP:0002500	Abnormal cerebral white matter morphology	1806	DPYD	OMIM:274270
HP:0002500	Abnormal cerebral white matter morphology	55215	FANCI	OMIM:609053
HP:0002500	Abnormal cerebral white matter morphology	27185	DISC1	ORPHA:171703
HP:0002500	Abnormal cerebral white matter morphology	8320	EOMES	ORPHA:171703
HP:0002500	Abnormal cerebral white matter morphology	79133	NDUFAF5	OMIM:618238
HP:0002500	Abnormal cerebral white matter morphology	55997	CFC1	OMIM:605376
HP:0002500	Abnormal cerebral white matter morphology	84892	POMGNT2	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	148789	B3GALNT2	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	1282	COL4A1	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	10329	RXYLT1	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	63925	ZNF335	OMIM:615095
HP:0002500	Abnormal cerebral white matter morphology	2657	GDF1	OMIM:208530
HP:0002500	Abnormal cerebral white matter morphology	85358	SHANK3	ORPHA:48652
HP:0002500	Abnormal cerebral white matter morphology	6598	SMARCB1	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	6659	SOX4	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	8289	ARID1A	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	5977	DPF2	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	196528	ARID2	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	6664	SOX11	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	5831	PYCR1	OMIM:612940
HP:0002500	Abnormal cerebral white matter morphology	1063	CENPF	OMIM:243605
HP:0002500	Abnormal cerebral white matter morphology	1000	CDH2	OMIM:618929
HP:0002500	Abnormal cerebral white matter morphology	1583	CYP11A1	ORPHA:289548
HP:0002500	Abnormal cerebral white matter morphology	1583	CYP11A1	ORPHA:168558
HP:0002500	Abnormal cerebral white matter morphology	2009	EML1	OMIM:600348
HP:0002500	Abnormal cerebral white matter morphology	5395	PMS2	OMIM:619101
HP:0002500	Abnormal cerebral white matter morphology	2313	FLI1	ORPHA:2308
HP:0002500	Abnormal cerebral white matter morphology	60	ACTB	OMIM:243310
HP:0002500	Abnormal cerebral white matter morphology	64840	PORCN	OMIM:305600
HP:0002500	Abnormal cerebral white matter morphology	65250	CPLANE1	OMIM:277170
HP:0002500	Abnormal cerebral white matter morphology	71	ACTG1	OMIM:614583
HP:0002500	Abnormal cerebral white matter morphology	8092	ALX1	ORPHA:306542
HP:0002500	Abnormal cerebral white matter morphology	57545	CC2D2A	OMIM:619111
HP:0002500	Abnormal cerebral white matter morphology	145173	B3GLCT	OMIM:261540
HP:0002500	Abnormal cerebral white matter morphology	1387	CREBBP	OMIM:180849
HP:0002500	Abnormal cerebral white matter morphology	2033	EP300	OMIM:180849
HP:0002500	Abnormal cerebral white matter morphology	374879	ZNF699	OMIM:619488
HP:0002500	Abnormal cerebral white matter morphology	55640	FLVCR2	OMIM:225790
HP:0002500	Abnormal cerebral white matter morphology	91875	TTC5	OMIM:619244
HP:0002500	Abnormal cerebral white matter morphology	80210	ARMC9	OMIM:617622
HP:0002500	Abnormal cerebral white matter morphology	6299	SALL1	ORPHA:857
HP:0002500	Abnormal cerebral white matter morphology	51339	DACT1	ORPHA:857
HP:0002500	Abnormal cerebral white matter morphology	1376	CPT2	OMIM:608836
HP:0002500	Abnormal cerebral white matter morphology	1376	CPT2	ORPHA:228308
HP:0002500	Abnormal cerebral white matter morphology	652	BMP4	ORPHA:139471
HP:0002500	Abnormal cerebral white matter morphology	84823	LMNB2	OMIM:616540
HP:0002500	Abnormal cerebral white matter morphology	8777	MPDZ	OMIM:615219
HP:0002500	Abnormal cerebral white matter morphology	219844	HYLS1	OMIM:236680
HP:0002500	Abnormal cerebral white matter morphology	219844	HYLS1	ORPHA:2189
HP:0002500	Abnormal cerebral white matter morphology	4292	MLH1	OMIM:276300
HP:0002500	Abnormal cerebral white matter morphology	22995	CEP152	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	163786	SASS6	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	4176	MCM7	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	80254	CEP63	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	29081	METTL5	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	23310	NCAPD3	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	79648	MCPH1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	7109	TRAPPC10	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1911	PHC1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	6884	TAF13	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	9662	CEP135	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	55835	CENPJ	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	57082	KNL1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1021	CDK6	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	18	ABAT	OMIM:613163
HP:0002500	Abnormal cerebral white matter morphology	8449	DHX16	OMIM:618733
HP:0002500	Abnormal cerebral white matter morphology	26123	TCTN3	OMIM:614815
HP:0002500	Abnormal cerebral white matter morphology	128674	PROKR2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	26275	HIBCH	OMIM:250620
HP:0002500	Abnormal cerebral white matter morphology	1718	DHCR24	OMIM:602398
HP:0002500	Abnormal cerebral white matter morphology	2615	LRRC32	OMIM:619074
HP:0002500	Abnormal cerebral white matter morphology	10128	LRPPRC	OMIM:220111
HP:0002500	Abnormal cerebral white matter morphology	10785	WDR4	OMIM:618346
HP:0002500	Abnormal cerebral white matter morphology	6938	TCF12	OMIM:615314
HP:0002500	Abnormal cerebral white matter morphology	5727	PTCH1	OMIM:610828
HP:0002500	Abnormal cerebral white matter morphology	2736	GLI2	OMIM:610829
HP:0002500	Abnormal cerebral white matter morphology	4036	LRP2	OMIM:222448
HP:0002500	Abnormal cerebral white matter morphology	136647	MPLKIP	OMIM:234050
HP:0002500	Abnormal cerebral white matter morphology	136647	MPLKIP	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	10733	PLK4	OMIM:616171
HP:0002500	Abnormal cerebral white matter morphology	51112	TRAPPC12	ORPHA:500144
HP:0002500	Abnormal cerebral white matter morphology	1062	CENPE	OMIM:616051
HP:0002500	Abnormal cerebral white matter morphology	55755	CDK5RAP2	OMIM:604804
HP:0002500	Abnormal cerebral white matter morphology	4190	MDH1	OMIM:618959
HP:0002500	Abnormal cerebral white matter morphology	9968	MED12	OMIM:305450
HP:0002500	Abnormal cerebral white matter morphology	60386	SLC25A19	OMIM:607196
HP:0002500	Abnormal cerebral white matter morphology	55691	FRMD4A	OMIM:616819
HP:0002500	Abnormal cerebral white matter morphology	139285	AMER1	OMIM:300373
HP:0002500	Abnormal cerebral white matter morphology	23007	PLCH1	OMIM:619895
HP:0002500	Abnormal cerebral white matter morphology	64324	NSD1	OMIM:117550
HP:0002500	Abnormal cerebral white matter morphology	54916	TMEM260	OMIM:617478
HP:0002500	Abnormal cerebral white matter morphology	404672	GTF2H5	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2068	ERCC2	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	7737	RNF113A	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	6897	TARS1	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2071	ERCC3	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2961	GTF2E2	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	64432	MRPS25	OMIM:619025
HP:0002500	Abnormal cerebral white matter morphology	51362	CDC40	OMIM:619302
HP:0002500	Abnormal cerebral white matter morphology	80199	FUZ	ORPHA:1136
HP:0002500	Abnormal cerebral white matter morphology	2137	EXTL3	ORPHA:508533
HP:0002500	Abnormal cerebral white matter morphology	7528	YY1	ORPHA:506358
HP:0002500	Abnormal cerebral white matter morphology	8036	SHOC2	OMIM:607721
HP:0002500	Abnormal cerebral white matter morphology	10617	STAMBP	OMIM:614261
HP:0002500	Abnormal cerebral white matter morphology	26235	FBXL4	OMIM:615471
HP:0002500	Abnormal cerebral white matter morphology	104	ADARB1	OMIM:618862
HP:0002500	Abnormal cerebral white matter morphology	23019	CNOT1	OMIM:618500
HP:0002500	Abnormal cerebral white matter morphology	9853	RUSC2	OMIM:617773
HP:0002500	Abnormal cerebral white matter morphology	6873	TAF2	OMIM:615599
HP:0002500	Abnormal cerebral white matter morphology	6873	TAF2	ORPHA:397951
HP:0002500	Abnormal cerebral white matter morphology	1947	EFNB1	ORPHA:1520
HP:0002500	Abnormal cerebral white matter morphology	1947	EFNB1	OMIM:304110
HP:0002500	Abnormal cerebral white matter morphology	7360	UGP2	OMIM:618744
HP:0002500	Abnormal cerebral white matter morphology	81857	MED25	OMIM:616449
HP:0002500	Abnormal cerebral white matter morphology	81857	MED25	ORPHA:464738
HP:0002500	Abnormal cerebral white matter morphology	84942	WDR73	OMIM:251300
HP:0002500	Abnormal cerebral white matter morphology	3190	HNRNPK	ORPHA:453504
HP:0002500	Abnormal cerebral white matter morphology	3190	HNRNPK	ORPHA:352665
HP:0002500	Abnormal cerebral white matter morphology	116931	MED12L	OMIM:618872
HP:0002500	Abnormal cerebral white matter morphology	10300	KATNB1	OMIM:616212
HP:0002500	Abnormal cerebral white matter morphology	10300	KATNB1	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	80816	ASXL3	OMIM:615485
HP:0002500	Abnormal cerebral white matter morphology	6536	SLC6A9	OMIM:617301
HP:0002500	Abnormal cerebral white matter morphology	51741	WWOX	OMIM:616211
HP:0002500	Abnormal cerebral white matter morphology	5917	RARS1	ORPHA:438114
HP:0002500	Abnormal cerebral white matter morphology	5917	RARS1	OMIM:616140
HP:0002500	Abnormal cerebral white matter morphology	27245	AHDC1	ORPHA:412069
HP:0002500	Abnormal cerebral white matter morphology	27245	AHDC1	OMIM:615829
HP:0002500	Abnormal cerebral white matter morphology	375387	NRROS	OMIM:618875
HP:0002500	Abnormal cerebral white matter morphology	5610	EIF2AK2	OMIM:618877
HP:0002500	Abnormal cerebral white matter morphology	284403	WDR62	OMIM:604317
HP:0002500	Abnormal cerebral white matter morphology	83696	TRAPPC9	OMIM:613192
HP:0002500	Abnormal cerebral white matter morphology	83696	TRAPPC9	ORPHA:352530
HP:0002500	Abnormal cerebral white matter morphology	284058	KANSL1	ORPHA:363958
HP:0002500	Abnormal cerebral white matter morphology	284058	KANSL1	OMIM:610443
HP:0002500	Abnormal cerebral white matter morphology	284058	KANSL1	ORPHA:363965
HP:0002500	Abnormal cerebral white matter morphology	7343	UBTF	OMIM:617672
HP:0002500	Abnormal cerebral white matter morphology	7343	UBTF	ORPHA:500180
HP:0002500	Abnormal cerebral white matter morphology	6844	VAMP2	OMIM:618760
HP:0002500	Abnormal cerebral white matter morphology	79029	AFG2B	OMIM:619616
HP:0002500	Abnormal cerebral white matter morphology	1183	CLCN4	ORPHA:485350
HP:0002500	Abnormal cerebral white matter morphology	1183	CLCN4	OMIM:300114
HP:0002500	Abnormal cerebral white matter morphology	6872	TAF1	ORPHA:480907
HP:0002500	Abnormal cerebral white matter morphology	6872	TAF1	OMIM:300966
HP:0002500	Abnormal cerebral white matter morphology	171023	ASXL1	ORPHA:97297
HP:0002500	Abnormal cerebral white matter morphology	171023	ASXL1	OMIM:605039
HP:0002500	Abnormal cerebral white matter morphology	4763	NF1	ORPHA:363700
HP:0002500	Abnormal cerebral white matter morphology	1656	DDX6	OMIM:618653
HP:0002500	Abnormal cerebral white matter morphology	25930	PTPN23	OMIM:618890
HP:0002500	Abnormal cerebral white matter morphology	23327	NEDD4L	OMIM:617201
HP:0002500	Abnormal cerebral white matter morphology	833	CARS1	OMIM:618891
HP:0002500	Abnormal cerebral white matter morphology	2903	GRIN2A	ORPHA:289266
HP:0002500	Abnormal cerebral white matter morphology	2903	GRIN2A	ORPHA:163721
HP:0002500	Abnormal cerebral white matter morphology	54872	PIGG	ORPHA:488635
HP:0002500	Abnormal cerebral white matter morphology	54872	PIGG	OMIM:616917
HP:0002500	Abnormal cerebral white matter morphology	57178	ZMIZ1	OMIM:618659
HP:0002500	Abnormal cerebral white matter morphology	8550	MAPKAPK5	OMIM:619869
HP:0002500	Abnormal cerebral white matter morphology	79731	NARS2	OMIM:616239
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	OMIM:617207
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	OMIM:241410
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	ORPHA:496756
HP:0002500	Abnormal cerebral white matter morphology	26040	SETBP1	OMIM:269150
HP:0002500	Abnormal cerebral white matter morphology	26040	SETBP1	ORPHA:798
HP:0002500	Abnormal cerebral white matter morphology	1499	CTNNB1	ORPHA:404473
HP:0002500	Abnormal cerebral white matter morphology	1499	CTNNB1	OMIM:615075
HP:0002500	Abnormal cerebral white matter morphology	5518	PPP2R1A	OMIM:616362
HP:0002500	Abnormal cerebral white matter morphology	5518	PPP2R1A	ORPHA:457284
HP:0002500	Abnormal cerebral white matter morphology	113612	CYP2U1	OMIM:615030
HP:0002500	Abnormal cerebral white matter morphology	113612	CYP2U1	ORPHA:320411
HP:0002500	Abnormal cerebral white matter morphology	2261	FGFR3	OMIM:616482
HP:0002500	Abnormal cerebral white matter morphology	2261	FGFR3	ORPHA:85165
HP:0002500	Abnormal cerebral white matter morphology	9895	TECPR2	OMIM:615031
HP:0002500	Abnormal cerebral white matter morphology	9895	TECPR2	ORPHA:320385
HP:0002500	Abnormal cerebral white matter morphology	10717	AP4B1	OMIM:614066
HP:0002500	Abnormal cerebral white matter morphology	10717	AP4B1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	84879	MFSD2A	OMIM:616486
HP:0002500	Abnormal cerebral white matter morphology	84504	NKX6-2	ORPHA:527497
HP:0002500	Abnormal cerebral white matter morphology	55773	TBC1D23	OMIM:617695
HP:0002500	Abnormal cerebral white matter morphology	8558	CDK10	OMIM:617694
HP:0002500	Abnormal cerebral white matter morphology	51633	OTUD6B	OMIM:617452
HP:0002500	Abnormal cerebral white matter morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002500	Abnormal cerebral white matter morphology	5048	PAFAH1B1	ORPHA:531
HP:0002500	Abnormal cerebral white matter morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002500	Abnormal cerebral white matter morphology	7531	YWHAE	ORPHA:217385
HP:0002500	Abnormal cerebral white matter morphology	7531	YWHAE	ORPHA:531
HP:0002500	Abnormal cerebral white matter morphology	3098	HK1	OMIM:618547
HP:0002500	Abnormal cerebral white matter morphology	1859	DYRK1A	ORPHA:464311
HP:0002500	Abnormal cerebral white matter morphology	1859	DYRK1A	ORPHA:268261
HP:0002500	Abnormal cerebral white matter morphology	26137	ZBTB20	OMIM:259050
HP:0002500	Abnormal cerebral white matter morphology	9533	POLR1C	OMIM:616494
HP:0002500	Abnormal cerebral white matter morphology	1615	DARS1	OMIM:615281
HP:0002500	Abnormal cerebral white matter morphology	3800	KIF5C	OMIM:615282
HP:0002500	Abnormal cerebral white matter morphology	253959	RALGAPA1	OMIM:618797
HP:0002500	Abnormal cerebral white matter morphology	51098	IFT52	OMIM:617102
HP:0002500	Abnormal cerebral white matter morphology	4849	CNOT3	OMIM:618672
HP:0002500	Abnormal cerebral white matter morphology	6506	SLC1A2	OMIM:617105
HP:0002500	Abnormal cerebral white matter morphology	10297	APC2	OMIM:618677
HP:0002500	Abnormal cerebral white matter morphology	25973	PARS2	OMIM:618437
HP:0002500	Abnormal cerebral white matter morphology	79971	WLS	OMIM:619648
HP:0002500	Abnormal cerebral white matter morphology	2558	GABRA5	OMIM:618559
HP:0002500	Abnormal cerebral white matter morphology	7841	MOGS	ORPHA:79330
HP:0002500	Abnormal cerebral white matter morphology	7841	MOGS	OMIM:606056
HP:0002500	Abnormal cerebral white matter morphology	6925	TCF4	OMIM:610954
HP:0002500	Abnormal cerebral white matter morphology	10743	RAI1	ORPHA:1713
HP:0002500	Abnormal cerebral white matter morphology	57688	ZSWIM6	OMIM:603671
HP:0002500	Abnormal cerebral white matter morphology	4208	MEF2C	ORPHA:228384
HP:0002500	Abnormal cerebral white matter morphology	23162	MAPK8IP3	OMIM:618443
HP:0002500	Abnormal cerebral white matter morphology	3798	KIF5A	OMIM:617235
HP:0002500	Abnormal cerebral white matter morphology	8565	YARS1	OMIM:619418
HP:0002500	Abnormal cerebral white matter morphology	3785	KCNQ2	ORPHA:439218
HP:0002500	Abnormal cerebral white matter morphology	3785	KCNQ2	OMIM:613720
HP:0002500	Abnormal cerebral white matter morphology	51062	ATL1	OMIM:182600
HP:0002500	Abnormal cerebral white matter morphology	10195	ALG3	ORPHA:79321
HP:0002500	Abnormal cerebral white matter morphology	79087	ALG12	ORPHA:79324
HP:0002500	Abnormal cerebral white matter morphology	79053	ALG8	ORPHA:79325
HP:0002500	Abnormal cerebral white matter morphology	9896	FIG4	OMIM:216340
HP:0002500	Abnormal cerebral white matter morphology	3897	L1CAM	OMIM:304100
HP:0002500	Abnormal cerebral white matter morphology	8295	TRRAP	OMIM:618454
HP:0002500	Abnormal cerebral white matter morphology	9742	IFT140	OMIM:266920
HP:0002500	Abnormal cerebral white matter morphology	7040	TGFB1	OMIM:618213
HP:0002500	Abnormal cerebral white matter morphology	8621	CDK13	OMIM:617360
HP:0002500	Abnormal cerebral white matter morphology	5881	RAC3	OMIM:618577
HP:0002500	Abnormal cerebral white matter morphology	22930	RAB3GAP1	OMIM:619420
HP:0002500	Abnormal cerebral white matter morphology	22930	RAB3GAP1	OMIM:600118
HP:0002500	Abnormal cerebral white matter morphology	27429	HTRA2	OMIM:617248
HP:0002500	Abnormal cerebral white matter morphology	51013	EXOSC1	OMIM:619304
HP:0002500	Abnormal cerebral white matter morphology	55770	EXOC2	OMIM:619306
HP:0002500	Abnormal cerebral white matter morphology	9361	LONP1	OMIM:600373
HP:0002500	Abnormal cerebral white matter morphology	9361	LONP1	ORPHA:79243
HP:0002500	Abnormal cerebral white matter morphology	22827	PUF60	ORPHA:508498
HP:0002500	Abnormal cerebral white matter morphology	22827	PUF60	ORPHA:508488
HP:0002500	Abnormal cerebral white matter morphology	9488	PIGB	OMIM:618580
HP:0002500	Abnormal cerebral white matter morphology	3912	LAMB1	OMIM:615191
HP:0002500	Abnormal cerebral white matter morphology	84706	GPT2	OMIM:616281
HP:0002500	Abnormal cerebral white matter morphology	84706	GPT2	ORPHA:477673
HP:0002500	Abnormal cerebral white matter morphology	79876	UBA5	OMIM:617132
HP:0002500	Abnormal cerebral white matter morphology	160418	TMTC3	OMIM:617255
HP:0002500	Abnormal cerebral white matter morphology	8506	CNTNAP1	OMIM:616286
HP:0002500	Abnormal cerebral white matter morphology	8506	CNTNAP1	OMIM:618186
HP:0002500	Abnormal cerebral white matter morphology	2187	FANCB	OMIM:300514
HP:0002500	Abnormal cerebral white matter morphology	10765	KDM5B	OMIM:618109
HP:0002500	Abnormal cerebral white matter morphology	10564	ARFGEF2	OMIM:608097
HP:0002500	Abnormal cerebral white matter morphology	85476	GFM1	OMIM:609060
HP:0002500	Abnormal cerebral white matter morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002500	Abnormal cerebral white matter morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002500	Abnormal cerebral white matter morphology	2671	GFER	ORPHA:330054
HP:0002500	Abnormal cerebral white matter morphology	1605	DAG1	ORPHA:370997
HP:0002500	Abnormal cerebral white matter morphology	1605	DAG1	OMIM:616538
HP:0002500	Abnormal cerebral white matter morphology	11160	ERLIN2	ORPHA:209951
HP:0002500	Abnormal cerebral white matter morphology	11160	ERLIN2	OMIM:611225
HP:0002500	Abnormal cerebral white matter morphology	56945	MRPS22	OMIM:611719
HP:0002500	Abnormal cerebral white matter morphology	128869	PIGU	OMIM:618590
HP:0002500	Abnormal cerebral white matter morphology	5631	PRPS1	ORPHA:423479
HP:0002500	Abnormal cerebral white matter morphology	7707	ZNF148	OMIM:617260
HP:0002500	Abnormal cerebral white matter morphology	1349	COX7B	OMIM:300887
HP:0002500	Abnormal cerebral white matter morphology	5515	PPP2CA	OMIM:618354
HP:0002500	Abnormal cerebral white matter morphology	55610	VPS50	OMIM:619685
HP:0002500	Abnormal cerebral white matter morphology	4695	NDUFA2	OMIM:618235
HP:0002500	Abnormal cerebral white matter morphology	5649	RELN	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	54820	NDE1	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	55262	TRAPPC14	OMIM:618351
HP:0002500	Abnormal cerebral white matter morphology	1654	DDX3X	ORPHA:457260
HP:0002500	Abnormal cerebral white matter morphology	1654	DDX3X	OMIM:300958
HP:0002500	Abnormal cerebral white matter morphology	5660	PSAP	OMIM:611721
HP:0002500	Abnormal cerebral white matter morphology	26128	KIFBP	ORPHA:66629
HP:0002500	Abnormal cerebral white matter morphology	26128	KIFBP	OMIM:609460
HP:0002500	Abnormal cerebral white matter morphology	154881	KCTD7	OMIM:611726
HP:0002500	Abnormal cerebral white matter morphology	9179	AP4M1	OMIM:612936
HP:0002500	Abnormal cerebral white matter morphology	9179	AP4M1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	9215	LARGE1	OMIM:236670
HP:0002500	Abnormal cerebral white matter morphology	9215	LARGE1	ORPHA:370968
HP:0002500	Abnormal cerebral white matter morphology	2218	FKTN	OMIM:236670
HP:0002500	Abnormal cerebral white matter morphology	6904	TBCD	ORPHA:496641
HP:0002500	Abnormal cerebral white matter morphology	6904	TBCD	OMIM:617193
HP:0002500	Abnormal cerebral white matter morphology	7337	UBE3A	ORPHA:98794
HP:0002500	Abnormal cerebral white matter morphology	4948	OCA2	ORPHA:98794
HP:0002500	Abnormal cerebral white matter morphology	4784	NFIX	OMIM:602535
HP:0002500	Abnormal cerebral white matter morphology	4784	NFIX	ORPHA:420179
HP:0002500	Abnormal cerebral white matter morphology	4784	NFIX	OMIM:614753
HP:0002500	Abnormal cerebral white matter morphology	22796	COG2	OMIM:617395
HP:0002500	Abnormal cerebral white matter morphology	22796	COG2	ORPHA:435934
HP:0002500	Abnormal cerebral white matter morphology	2560	GABRB1	OMIM:617153
HP:0002500	Abnormal cerebral white matter morphology	10588	MTHFS	OMIM:618367
HP:0002500	Abnormal cerebral white matter morphology	23221	RHOBTB2	OMIM:618004
HP:0002500	Abnormal cerebral white matter morphology	8120	AP3B2	OMIM:617276
HP:0002500	Abnormal cerebral white matter morphology	7965	AIMP2	OMIM:618006
HP:0002500	Abnormal cerebral white matter morphology	201163	FLCN	OMIM:610883
HP:0002500	Abnormal cerebral white matter morphology	29920	PYCR2	ORPHA:481152
HP:0002500	Abnormal cerebral white matter morphology	29920	PYCR2	OMIM:616420
HP:0002500	Abnormal cerebral white matter morphology	7703	PCGF2	OMIM:618371
HP:0002500	Abnormal cerebral white matter morphology	1781	DYNC1I2	OMIM:618492
HP:0002500	Abnormal cerebral white matter morphology	191	AHCY	ORPHA:88618
HP:0002500	Abnormal cerebral white matter morphology	7161	TP73	OMIM:619466
HP:0002500	Abnormal cerebral white matter morphology	11342	RNF13	OMIM:618379
HP:0002500	Abnormal cerebral white matter morphology	11342	RNF13	ORPHA:544503
HP:0002500	Abnormal cerebral white matter morphology	9758	FRMPD4	OMIM:300983
HP:0002500	Abnormal cerebral white matter morphology	5277	PIGA	OMIM:300868
HP:0002500	Abnormal cerebral white matter morphology	1822	ATN1	OMIM:618494
HP:0002500	Abnormal cerebral white matter morphology	523	ATP6V1A	OMIM:618012
HP:0002500	Abnormal cerebral white matter morphology	523	ATP6V1A	OMIM:617403
HP:0002500	Abnormal cerebral white matter morphology	4990	SIX6	OMIM:206900
HP:0002500	Abnormal cerebral white matter morphology	6657	SOX2	OMIM:206900
HP:0002500	Abnormal cerebral white matter morphology	8883	NAE1	OMIM:620210
HP:0002500	Abnormal cerebral white matter morphology	80185	TTI2	ORPHA:391307
HP:0002500	Abnormal cerebral white matter morphology	50801	KCNK4	OMIM:618381
HP:0002500	Abnormal cerebral white matter morphology	84265	POLR3GL	OMIM:619234
HP:0002500	Abnormal cerebral white matter morphology	9851	KIAA0753	OMIM:619479
HP:0002500	Abnormal cerebral white matter morphology	2892	GRIA3	ORPHA:364028
HP:0002500	Abnormal cerebral white matter morphology	348180	CTU2	OMIM:618142
HP:0002500	Abnormal cerebral white matter morphology	26005	C2CD3	ORPHA:434179
HP:0002500	Abnormal cerebral white matter morphology	26005	C2CD3	OMIM:615948
HP:0002500	Abnormal cerebral white matter morphology	57514	ARHGAP31	OMIM:100300
HP:0002500	Abnormal cerebral white matter morphology	51360	MBTPS2	OMIM:308205
HP:0002500	Abnormal cerebral white matter morphology	2571	GAD1	OMIM:619124
HP:0002500	Abnormal cerebral white matter morphology	2222	FDFT1	OMIM:618156
HP:0002500	Abnormal cerebral white matter morphology	285590	SH3PXD2B	OMIM:249420
HP:0002500	Abnormal cerebral white matter morphology	90522	YIF1B	OMIM:619125
HP:0002500	Abnormal cerebral white matter morphology	8239	USP9X	OMIM:300968
HP:0002500	Abnormal cerebral white matter morphology	8239	USP9X	ORPHA:480880
HP:0002500	Abnormal cerebral white matter morphology	9326	ZNHIT3	OMIM:260565
HP:0002500	Abnormal cerebral white matter morphology	6472	SHMT2	OMIM:619121
HP:0002500	Abnormal cerebral white matter morphology	29123	ANKRD11	ORPHA:261250
HP:0002500	Abnormal cerebral white matter morphology	9373	PLAA	ORPHA:521426
HP:0002500	Abnormal cerebral white matter morphology	9373	PLAA	OMIM:617527
HP:0002500	Abnormal cerebral white matter morphology	118924	FRA10AC1	OMIM:620113
HP:0002500	Abnormal cerebral white matter morphology	8911	CACNA1I	OMIM:620114
HP:0002500	Abnormal cerebral white matter morphology	93587	TRMT10A	ORPHA:391408
HP:0002500	Abnormal cerebral white matter morphology	84919	PPP1R15B	ORPHA:391408
HP:0002500	Abnormal cerebral white matter morphology	84919	PPP1R15B	OMIM:616817
HP:0002500	Abnormal cerebral white matter morphology	3090	HIC1	ORPHA:531
HP:0002500	Abnormal cerebral white matter morphology	6748	SSR4	ORPHA:370927
HP:0002500	Abnormal cerebral white matter morphology	6748	SSR4	OMIM:300934
HP:0002500	Abnormal cerebral white matter morphology	2177	FANCD2	OMIM:227646
HP:0002500	Abnormal cerebral white matter morphology	2629	GBA1	ORPHA:2072
HP:0002500	Abnormal cerebral white matter morphology	340533	NEXMIF	ORPHA:85277
HP:0002500	Abnormal cerebral white matter morphology	89970	RSPRY1	ORPHA:457395
HP:0002500	Abnormal cerebral white matter morphology	54187	NANS	OMIM:610442
HP:0002500	Abnormal cerebral white matter morphology	55005	RMND1	OMIM:614922
HP:0002500	Abnormal cerebral white matter morphology	3295	HSD17B4	OMIM:261515
HP:0002500	Abnormal cerebral white matter morphology	84153	RNASEH2C	OMIM:610329
HP:0002500	Abnormal cerebral white matter morphology	84153	RNASEH2C	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	10079	ATP9A	OMIM:620242
HP:0002500	Abnormal cerebral white matter morphology	23299	BICD2	OMIM:618291
HP:0002500	Abnormal cerebral white matter morphology	64802	NMNAT1	OMIM:619260
HP:0002500	Abnormal cerebral white matter morphology	129285	PPP1R21	OMIM:619383
HP:0002500	Abnormal cerebral white matter morphology	114034	TOE1	ORPHA:284339
HP:0002500	Abnormal cerebral white matter morphology	114034	TOE1	OMIM:614969
HP:0002500	Abnormal cerebral white matter morphology	84842	HPDL	OMIM:619026
HP:0002500	Abnormal cerebral white matter morphology	1496	CTNNA2	OMIM:618174
HP:0002500	Abnormal cerebral white matter morphology	27445	PCLO	OMIM:608027
HP:0002500	Abnormal cerebral white matter morphology	3480	IGF1R	OMIM:270450
HP:0002500	Abnormal cerebral white matter morphology	374654	KIF7	ORPHA:166024
HP:0002500	Abnormal cerebral white matter morphology	374654	KIF7	OMIM:607131
HP:0002500	Abnormal cerebral white matter morphology	10682	EBP	ORPHA:401973
HP:0002500	Abnormal cerebral white matter morphology	6095	RORA	OMIM:618060
HP:0002500	Abnormal cerebral white matter morphology	11113	CIT	OMIM:617090
HP:0002500	Abnormal cerebral white matter morphology	8450	CUL4B	OMIM:300354
HP:0002500	Abnormal cerebral white matter morphology	9131	AIFM1	OMIM:300232
HP:0002500	Abnormal cerebral white matter morphology	9131	AIFM1	ORPHA:83629
HP:0002500	Abnormal cerebral white matter morphology	6535	SLC6A8	OMIM:300352
HP:0002500	Abnormal cerebral white matter morphology	7355	SLC35A2	ORPHA:356961
HP:0002500	Abnormal cerebral white matter morphology	7355	SLC35A2	OMIM:300896
HP:0002500	Abnormal cerebral white matter morphology	781	CACNA2D1	OMIM:620149
HP:0002500	Abnormal cerebral white matter morphology	4774	NFIA	OMIM:613735
HP:0002500	Abnormal cerebral white matter morphology	8496	PPFIBP1	OMIM:620024
HP:0002500	Abnormal cerebral white matter morphology	132158	GLYCTK	ORPHA:941
HP:0002500	Abnormal cerebral white matter morphology	57176	VARS2	OMIM:615917
HP:0002500	Abnormal cerebral white matter morphology	80222	TARS2	OMIM:615918
HP:0002500	Abnormal cerebral white matter morphology	54209	TREM2	OMIM:618193
HP:0002500	Abnormal cerebral white matter morphology	200205	IBA57	ORPHA:468661
HP:0002500	Abnormal cerebral white matter morphology	200205	IBA57	OMIM:615330
HP:0002500	Abnormal cerebral white matter morphology	80232	WDR26	ORPHA:513456
HP:0002500	Abnormal cerebral white matter morphology	80232	WDR26	OMIM:617616
HP:0002500	Abnormal cerebral white matter morphology	89910	UBE3B	OMIM:244450
HP:0002500	Abnormal cerebral white matter morphology	80055	PGAP1	OMIM:615802
HP:0002500	Abnormal cerebral white matter morphology	9915	ARNT2	OMIM:615926
HP:0002500	Abnormal cerebral white matter morphology	29072	SETD2	OMIM:620157
HP:0002500	Abnormal cerebral white matter morphology	29072	SETD2	OMIM:620155
HP:0002500	Abnormal cerebral white matter morphology	57582	KCNT1	OMIM:614959
HP:0002500	Abnormal cerebral white matter morphology	55780	ERMARD	ORPHA:75857
HP:0002500	Abnormal cerebral white matter morphology	10978	CLP1	OMIM:615803
HP:0002500	Abnormal cerebral white matter morphology	26153	KIF26A	OMIM:620156
HP:0002500	Abnormal cerebral white matter morphology	271	AMPD2	OMIM:615809
HP:0002500	Abnormal cerebral white matter morphology	271	AMPD2	OMIM:615686
HP:0002500	Abnormal cerebral white matter morphology	25839	COG4	ORPHA:263501
HP:0002500	Abnormal cerebral white matter morphology	25839	COG4	OMIM:613489
HP:0002500	Abnormal cerebral white matter morphology	57492	ARID1B	OMIM:135900
HP:0002500	Abnormal cerebral white matter morphology	5119	CHMP1A	OMIM:614961
HP:0002500	Abnormal cerebral white matter morphology	55157	DARS2	ORPHA:137898
HP:0002500	Abnormal cerebral white matter morphology	10000	AKT3	OMIM:615937
HP:0002500	Abnormal cerebral white matter morphology	501	ALDH7A1	ORPHA:3006
HP:0002500	Abnormal cerebral white matter morphology	11212	PLPBP	ORPHA:3006
HP:0002500	Abnormal cerebral white matter morphology	1717	DHCR7	OMIM:270400
HP:0002500	Abnormal cerebral white matter morphology	23116	TOGARAM1	OMIM:619185
HP:0002500	Abnormal cerebral white matter morphology	57531	HACE1	ORPHA:464282
HP:0002500	Abnormal cerebral white matter morphology	57531	HACE1	OMIM:616756
HP:0002500	Abnormal cerebral white matter morphology	23400	ATP13A2	ORPHA:513436
HP:0002500	Abnormal cerebral white matter morphology	80856	LNPK	OMIM:618090
HP:0002500	Abnormal cerebral white matter morphology	26278	SACS	ORPHA:98
HP:0002500	Abnormal cerebral white matter morphology	1641	DCX	ORPHA:2148
HP:0002500	Abnormal cerebral white matter morphology	2752	GLUL	OMIM:610015
HP:0002500	Abnormal cerebral white matter morphology	54496	PRMT7	ORPHA:464288
HP:0002500	Abnormal cerebral white matter morphology	23265	EXOC7	OMIM:619072
HP:0002500	Abnormal cerebral white matter morphology	9653	HS2ST1	OMIM:619194
HP:0002500	Abnormal cerebral white matter morphology	1798	DPAGT1	ORPHA:86309
HP:0002500	Abnormal cerebral white matter morphology	7025	NR2F1	ORPHA:401777
HP:0002500	Abnormal cerebral white matter morphology	1267	CNP	OMIM:619071
HP:0002500	Abnormal cerebral white matter morphology	149371	EXOC8	OMIM:619076
HP:0002500	Abnormal cerebral white matter morphology	57498	KIDINS220	ORPHA:521390
HP:0002500	Abnormal cerebral white matter morphology	56006	SMG9	OMIM:616920
HP:0002500	Abnormal cerebral white matter morphology	27286	SRPX2	ORPHA:163721
HP:0002500	Abnormal cerebral white matter morphology	285175	UNC80	OMIM:616801
HP:0002500	Abnormal cerebral white matter morphology	285175	UNC80	ORPHA:371364
HP:0002500	Abnormal cerebral white matter morphology	79753	SNIP1	OMIM:614501
HP:0002500	Abnormal cerebral white matter morphology	54499	TMCO1	OMIM:213980
HP:0002500	Abnormal cerebral white matter morphology	54499	TMCO1	ORPHA:1394
HP:0002500	Abnormal cerebral white matter morphology	11128	POLR3A	ORPHA:447896
HP:0002500	Abnormal cerebral white matter morphology	11128	POLR3A	OMIM:607694
HP:0002500	Abnormal cerebral white matter morphology	10236	HNRNPR	OMIM:620073
HP:0002500	Abnormal cerebral white matter morphology	79813	EHMT1	ORPHA:261652
HP:0002500	Abnormal cerebral white matter morphology	58508	KMT2C	ORPHA:261652
HP:0002500	Abnormal cerebral white matter morphology	4094	MAF	ORPHA:1272
HP:0002500	Abnormal cerebral white matter morphology	5591	PRKDC	OMIM:615966
HP:0002500	Abnormal cerebral white matter morphology	6605	SMARCE1	OMIM:616938
HP:0002500	Abnormal cerebral white matter morphology	51244	CCDC174	OMIM:616816
HP:0002500	Abnormal cerebral white matter morphology	51322	WAC	ORPHA:284169
HP:0002500	Abnormal cerebral white matter morphology	51322	WAC	OMIM:616708
HP:0002500	Abnormal cerebral white matter morphology	10735	STAG2	ORPHA:521258
HP:0002500	Abnormal cerebral white matter morphology	729920	CRPPA	OMIM:614643
HP:0002500	Abnormal cerebral white matter morphology	55275	VPS53	OMIM:615851
HP:0002500	Abnormal cerebral white matter morphology	80184	CEP290	OMIM:611134
HP:0002500	Abnormal cerebral white matter morphology	9928	KIF14	OMIM:617914
HP:0002500	Abnormal cerebral white matter morphology	57704	GBA2	OMIM:614409
HP:0002500	Abnormal cerebral white matter morphology	200403	VWA3B	OMIM:616948
HP:0002500	Abnormal cerebral white matter morphology	85021	REPS1	OMIM:617916
HP:0002500	Abnormal cerebral white matter morphology	85440	DOCK7	OMIM:615859
HP:0002500	Abnormal cerebral white matter morphology	85440	DOCK7	ORPHA:411986
HP:0002500	Abnormal cerebral white matter morphology	7407	VARS1	OMIM:617802
HP:0002500	Abnormal cerebral white matter morphology	57165	GJC2	OMIM:613206
HP:0002500	Abnormal cerebral white matter morphology	10535	RNASEH2A	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	79621	RNASEH2B	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	103	ADAR	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	100147744	RNU7-1	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	134353	LSM11	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	64135	IFIH1	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	7490	WT1	OMIM:106210
HP:0002500	Abnormal cerebral white matter morphology	5080	PAX6	OMIM:106210
HP:0002500	Abnormal cerebral white matter morphology	10075	HUWE1	OMIM:309590
HP:0002500	Abnormal cerebral white matter morphology	91949	COG7	OMIM:608779
HP:0002500	Abnormal cerebral white matter morphology	8243	SMC1A	OMIM:301044
HP:0002500	Abnormal cerebral white matter morphology	60529	ALX4	OMIM:613451
HP:0002500	Abnormal cerebral white matter morphology	124997	WDR81	OMIM:610185
HP:0002500	Abnormal cerebral white matter morphology	2290	FOXG1	OMIM:613454
HP:0002500	Abnormal cerebral white matter morphology	79848	CSPP1	OMIM:615636
HP:0002500	Abnormal cerebral white matter morphology	65062	TMEM237	OMIM:614424
HP:0002500	Abnormal cerebral white matter morphology	6328	SCN3A	OMIM:617938
HP:0002500	Abnormal cerebral white matter morphology	55593	OTUD5	OMIM:301056
HP:0002500	Abnormal cerebral white matter morphology	6658	SOX3	ORPHA:67045
HP:0002500	Abnormal cerebral white matter morphology	5859	QARS1	OMIM:615760
HP:0002500	Abnormal cerebral white matter morphology	113179	ADAT3	ORPHA:363528
HP:0002500	Abnormal cerebral white matter morphology	80347	COASY	OMIM:615643
HP:0002500	Abnormal cerebral white matter morphology	23291	FBXW11	OMIM:618914
HP:0002500	Abnormal cerebral white matter morphology	7280	TUBB2A	OMIM:615763
HP:0002500	Abnormal cerebral white matter morphology	998	CDC42	OMIM:616737
HP:0002500	Abnormal cerebral white matter morphology	998	CDC42	ORPHA:487796
HP:0002500	Abnormal cerebral white matter morphology	50	ACO2	OMIM:614559
HP:0002500	Abnormal cerebral white matter morphology	10982	MAPRE2	OMIM:616734
HP:0002500	Abnormal cerebral white matter morphology	51218	GLRX5	OMIM:616859
HP:0002500	Abnormal cerebral white matter morphology	5053	PAH	ORPHA:2209
HP:0002500	Abnormal cerebral white matter morphology	4131	MAP1B	OMIM:618918
HP:0002500	Abnormal cerebral white matter morphology	5925	RB1	ORPHA:1587
HP:0002500	Abnormal cerebral white matter morphology	23511	NUP188	OMIM:618804
HP:0002500	Abnormal cerebral white matter morphology	6709	SPTAN1	OMIM:613477
HP:0002500	Abnormal cerebral white matter morphology	1778	DYNC1H1	OMIM:614563
HP:0002500	Abnormal cerebral white matter morphology	2058	EPRS1	OMIM:617951
HP:0002500	Abnormal cerebral white matter morphology	27315	PGAP2	OMIM:614207
HP:0002500	Abnormal cerebral white matter morphology	5160	PDHA1	ORPHA:79243
HP:0002500	Abnormal cerebral white matter morphology	5147	PDE6D	OMIM:615665
HP:0002500	Abnormal cerebral white matter morphology	57511	COG6	OMIM:614576
HP:0002500	Abnormal cerebral white matter morphology	2260	FGFR1	OMIM:613001
HP:0002500	Abnormal cerebral white matter morphology	23065	EMC1	OMIM:616875
HP:0002500	Abnormal cerebral white matter morphology	54664	TMEM106B	OMIM:617964
HP:0002500	Abnormal cerebral white matter morphology	128637	TBC1D20	OMIM:615663
HP:0002500	Abnormal cerebral white matter morphology	1729	DIAPH1	OMIM:616632
HP:0002500	Abnormal cerebral white matter morphology	9419	CRIPT	OMIM:615789
HP:0002500	Abnormal cerebral white matter morphology	26227	PHGDH	ORPHA:79351
HP:0002500	Abnormal cerebral white matter morphology	55644	OSGEP	OMIM:617729
HP:0002500	Abnormal cerebral white matter morphology	7874	USP7	ORPHA:500055
HP:0002500	Abnormal cerebral white matter morphology	340075	ARSI	ORPHA:401815
HP:0002500	Abnormal cerebral white matter morphology	6812	STXBP1	OMIM:612164
HP:0002500	Abnormal cerebral white matter morphology	22931	RAB18	OMIM:614222
HP:0002500	Abnormal cerebral white matter morphology	4337	MOCS1	OMIM:252150
HP:0002500	Abnormal cerebral white matter morphology	29957	SLC25A24	OMIM:612289
HP:0002500	Abnormal cerebral white matter morphology	56270	WDR45B	OMIM:617977
HP:0002500	Abnormal cerebral white matter morphology	259232	NALCN	ORPHA:371364
HP:0002500	Abnormal cerebral white matter morphology	23556	PIGN	ORPHA:280633
HP:0002500	Abnormal cerebral white matter morphology	54880	BCOR	OMIM:300166
HP:0002500	Abnormal cerebral white matter morphology	122553	TRAPPC6B	OMIM:617862
HP:0002500	Abnormal cerebral white matter morphology	51124	IER3IP1	OMIM:614231
HP:0002500	Abnormal cerebral white matter morphology	2893	GRIA4	OMIM:617864
HP:0002500	Abnormal cerebral white matter morphology	55704	CCDC88A	OMIM:617507
HP:0002500	Abnormal cerebral white matter morphology	54676	GTPBP2	OMIM:617988
HP:0002500	Abnormal cerebral white matter morphology	5296	PIK3R2	OMIM:603387
HP:0002500	Abnormal cerebral white matter morphology	259266	ASPM	OMIM:608716
HP:0002500	Abnormal cerebral white matter morphology	11154	AP4S1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	23431	AP4E1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	4047	LSS	OMIM:618840
HP:0002500	Abnormal cerebral white matter morphology	5879	RAC1	OMIM:617751
HP:0002500	Abnormal cerebral white matter morphology	5879	RAC1	ORPHA:500159
HP:0002500	Abnormal cerebral white matter morphology	440	ASNS	OMIM:615574
HP:0002500	Abnormal cerebral white matter morphology	5455	POU3F3	OMIM:618604
HP:0002500	Abnormal cerebral white matter morphology	133686	NADK2	ORPHA:431361
HP:0002500	Abnormal cerebral white matter morphology	738	VPS51	OMIM:618606
HP:0002500	Abnormal cerebral white matter morphology	5116	PCNT	ORPHA:2637
HP:0002500	Abnormal cerebral white matter morphology	2806	GOT2	OMIM:618721
HP:0002500	Abnormal cerebral white matter morphology	5430	POLR2A	OMIM:618603
HP:0002500	Abnormal cerebral white matter morphology	51663	ZFR	ORPHA:401840
HP:0002500	Abnormal cerebral white matter morphology	1468	SLC25A10	OMIM:618972
HP:0002500	Abnormal cerebral white matter morphology	1968	EIF2S3	OMIM:300148
HP:0002500	Abnormal cerebral white matter morphology	5307	PITX1	OMIM:119800
HP:0002500	Abnormal cerebral white matter morphology	8884	SLC5A6	OMIM:618973
HP:0002500	Abnormal cerebral white matter morphology	7305	TYROBP	OMIM:221770
HP:0002500	Abnormal cerebral white matter morphology	55331	ACER3	OMIM:617762
HP:0002500	Abnormal cerebral white matter morphology	153241	CEP120	OMIM:617761
HP:0002500	Abnormal cerebral white matter morphology	4281	MID1	ORPHA:2745
HP:0002500	Abnormal cerebral white matter morphology	10844	TUBGCP2	OMIM:618737
HP:0002500	Abnormal cerebral white matter morphology	4858	NOVA2	OMIM:618859
HP:0002500	Abnormal cerebral white matter morphology	84148	KAT8	OMIM:618974
HP:0002500	Abnormal cerebral white matter morphology	55753	OGDHL	OMIM:619701
HP:0002500	Abnormal cerebral white matter morphology	58499	ZNF462	OMIM:618619
HP:0002500	Abnormal cerebral white matter morphology	2639	GCDH	ORPHA:25
HP:0002500	Abnormal cerebral white matter morphology	10749	KIF1C	ORPHA:397946
HP:0002500	Abnormal cerebral white matter morphology	3064	HTT	ORPHA:399
HP:0002500	Abnormal cerebral white matter morphology	3064	HTT	ORPHA:248111
HP:0002500	Abnormal cerebral white matter morphology	6515	SLC2A3	ORPHA:399
HP:0002500	Abnormal cerebral white matter morphology	4524	MTHFR	ORPHA:395
HP:0002500	Abnormal cerebral white matter morphology	1173	AP2M1	OMIM:618587
HP:0002500	Abnormal cerebral white matter morphology	9420	CYP7B1	ORPHA:100986
HP:0002500	Abnormal cerebral white matter morphology	23345	SYNE1	ORPHA:88644
HP:0002500	Abnormal cerebral white matter morphology	1786	DNMT1	ORPHA:314404
HP:0002500	Abnormal cerebral white matter morphology	123263	MTFMT	OMIM:614947
HP:0002500	Abnormal cerebral white matter morphology	79783	SUGCT	ORPHA:35706
HP:0002500	Abnormal cerebral white matter morphology	6687	SPG7	ORPHA:99013
HP:0002500	Abnormal cerebral white matter morphology	5551	PRF1	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	8676	STX11	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	201294	UNC13D	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	6813	STXBP2	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	55187	VPS13D	OMIM:607317
HP:0002500	Abnormal cerebral white matter morphology	3778	KCNMA1	OMIM:618596
HP:0002500	Abnormal cerebral white matter morphology	7084	TK2	ORPHA:254886
HP:0002500	Abnormal cerebral white matter morphology	51601	LIPT1	OMIM:616299
HP:0002500	Abnormal cerebral white matter morphology	22880	MORC2	ORPHA:466768
HP:0002500	Abnormal cerebral white matter morphology	4552	MTRR	ORPHA:2169
HP:0002500	Abnormal cerebral white matter morphology	55904	KMT2E	OMIM:618512
HP:0002500	Abnormal cerebral white matter morphology	57231	SNX14	ORPHA:397709
HP:0002500	Abnormal cerebral white matter morphology	1890	TYMP	ORPHA:298
HP:0002500	Abnormal cerebral white matter morphology	219285	SAMD9L	OMIM:159550
HP:0002500	Abnormal cerebral white matter morphology	2590	GALNT2	OMIM:618885
HP:0002500	Abnormal cerebral white matter morphology	6773	STAT2	OMIM:618886
HP:0002500	Abnormal cerebral white matter morphology	55858	TMEM165	OMIM:614727
HP:0002500	Abnormal cerebral white matter morphology	8398	PLA2G6	ORPHA:35069
HP:0002500	Abnormal cerebral white matter morphology	29967	LRP12	OMIM:164310
HP:0002500	Abnormal cerebral white matter morphology	549	AUH	OMIM:250950
HP:0002500	Abnormal cerebral white matter morphology	2632	GBE1	OMIM:263570
HP:0002500	Abnormal cerebral white matter morphology	215	ABCD1	OMIM:300100
HP:0002500	Abnormal cerebral white matter morphology	3155	HMGCL	OMIM:246450
HP:0002500	Abnormal cerebral white matter morphology	8789	FBP2	OMIM:619864
HP:0002500	Abnormal cerebral white matter morphology	2705	GJB1	OMIM:302800
HP:0002500	Abnormal cerebral white matter morphology	3908	LAMA2	OMIM:618138
HP:0002500	Abnormal cerebral white matter morphology	2697	GJA1	OMIM:164200
HP:0002500	Abnormal cerebral white matter morphology	953	ENTPD1	ORPHA:401810
HP:0002500	Abnormal cerebral white matter morphology	953	ENTPD1	OMIM:615683
HP:0002500	Abnormal cerebral white matter morphology	57187	THOC2	OMIM:300957
HP:0002500	Abnormal cerebral white matter morphology	64849	SLC13A3	OMIM:618384
HP:0002500	Abnormal cerebral white matter morphology	35	ACADS	OMIM:201470
HP:0002500	Abnormal cerebral white matter morphology	1497	CTNS	ORPHA:411629
HP:0002500	Abnormal cerebral white matter morphology	57459	GATAD2B	ORPHA:363686
HP:0002500	Abnormal cerebral white matter morphology	440138	ALG11	ORPHA:280071
HP:0002500	Abnormal cerebral white matter morphology	6182	MRPL12	OMIM:618951
HP:0002500	Abnormal cerebral white matter morphology	11041	B4GAT1	OMIM:615287
HP:0002500	Abnormal cerebral white matter morphology	5192	PEX10	OMIM:614871
HP:0002500	Abnormal cerebral white matter morphology	9409	PEX16	OMIM:614877
HP:0002500	Abnormal cerebral white matter morphology	51473	DCDC2	ORPHA:84081
HP:0002500	Abnormal cerebral white matter morphology	91147	TMEM67	ORPHA:84081
HP:0002500	Abnormal cerebral white matter morphology	3423	IDS	ORPHA:217093
HP:0002500	Abnormal cerebral white matter morphology	23314	SATB2	ORPHA:576283
HP:0002500	Abnormal cerebral white matter morphology	4854	NOTCH3	ORPHA:136
HP:0002500	Abnormal cerebral white matter morphology	9101	USP8	ORPHA:401795
HP:0002500	Abnormal cerebral white matter morphology	1436	CSF1R	OMIM:221820
HP:0002500	Abnormal cerebral white matter morphology	55739	NAXD	OMIM:618321
HP:0002500	Abnormal cerebral white matter morphology	51	ACOX1	OMIM:618960
HP:0002500	Abnormal cerebral white matter morphology	5528	PPP2R5D	ORPHA:457279
HP:0002500	Abnormal cerebral white matter morphology	2186	BPTF	OMIM:617755
HP:0002500	Abnormal cerebral white matter morphology	57731	SPTBN4	OMIM:617519
HP:0002500	Abnormal cerebral white matter morphology	1807	DPYS	OMIM:222748
HP:0002500	Abnormal cerebral white matter morphology	84188	FAR1	ORPHA:447753
HP:0002500	Abnormal cerebral white matter morphology	5832	ALDH18A1	ORPHA:447753
HP:0002500	Abnormal cerebral white matter morphology	87178	PNPT1	OMIM:608703
HP:0002500	Abnormal cerebral white matter morphology	55181	SMG8	OMIM:619268
HP:0002500	Abnormal cerebral white matter morphology	25978	CHMP2B	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	25978	CHMP2B	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	5663	PSEN1	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	5663	PSEN1	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	2896	GRN	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	2896	GRN	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	8878	SQSTM1	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	4137	MAPT	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	4137	MAPT	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	7415	VCP	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	7415	VCP	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	7319	UBE2A	ORPHA:163956
HP:0002500	Abnormal cerebral white matter morphology	284111	SLC13A5	OMIM:615905
HP:0002500	Abnormal cerebral white matter morphology	165918	RNF168	ORPHA:420741
HP:0002500	Abnormal cerebral white matter morphology	410	ARSA	OMIM:250100
HP:0002500	Abnormal cerebral white matter morphology	51501	HIKESHI	OMIM:616881
HP:0002500	Abnormal cerebral white matter morphology	1593	CYP27A1	OMIM:213700
HP:0002500	Abnormal cerebral white matter morphology	8818	DPM2	ORPHA:329178
HP:0002500	Abnormal cerebral white matter morphology	81570	CLPB	OMIM:619835
HP:0002500	Abnormal cerebral white matter morphology	285362	SUMF1	OMIM:272200
HP:0002500	Abnormal cerebral white matter morphology	54344	DPM3	OMIM:618992
HP:0002500	Abnormal cerebral white matter morphology	122961	ISCA2	OMIM:616370
HP:0002500	Abnormal cerebral white matter morphology	55159	RFWD3	OMIM:617784
HP:0002500	Abnormal cerebral white matter morphology	4010	LMX1B	ORPHA:495818
HP:0002500	Abnormal cerebral white matter morphology	284217	LAMA1	OMIM:615960
HP:0002500	Abnormal cerebral white matter morphology	3781	KCNN2	OMIM:619725
HP:0002500	Abnormal cerebral white matter morphology	10059	DNM1L	ORPHA:98673
HP:0002500	Abnormal cerebral white matter morphology	4976	OPA1	ORPHA:98673
HP:0002500	Abnormal cerebral white matter morphology	7317	UBA1	ORPHA:1145
HP:0002500	Abnormal cerebral white matter morphology	8560	DEGS1	OMIM:618404
HP:0002500	Abnormal cerebral white matter morphology	760	CA2	ORPHA:2785
HP:0002500	Abnormal cerebral white matter morphology	54	ACP5	ORPHA:1855
HP:0002500	Abnormal cerebral white matter morphology	4668	NAGA	OMIM:609242
HP:0002500	Abnormal cerebral white matter morphology	701	BUB1B	OMIM:257300
HP:0002500	Abnormal cerebral white matter morphology	80267	EDEM3	OMIM:619493
HP:0002500	Abnormal cerebral white matter morphology	5091	PC	OMIM:266150
HP:0002500	Abnormal cerebral white matter morphology	4718	NDUFC2	OMIM:619170
HP:0002500	Abnormal cerebral white matter morphology	55621	TRMT1	OMIM:618302
HP:0002500	Abnormal cerebral white matter morphology	57479	PRR12	OMIM:619539
HP:0002500	Abnormal cerebral white matter morphology	51002	TPRKB	OMIM:617731
HP:0002500	Abnormal cerebral white matter morphology	26047	CNTNAP2	ORPHA:163681
HP:0002500	Abnormal cerebral white matter morphology	57505	AARS2	OMIM:615889
HP:0002500	Abnormal cerebral white matter morphology	200424	TET3	OMIM:618798
HP:0002500	Abnormal cerebral white matter morphology	3516	RBPJ	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	4851	NOTCH1	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	57572	DOCK6	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	285203	EOGT	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	54567	DLL4	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	7846	TUBA1A	ORPHA:171680
HP:0002500	Abnormal cerebral white matter morphology	4841	NONO	ORPHA:466791
HP:0002500	Abnormal cerebral white matter morphology	4841	NONO	OMIM:300967
HP:0002500	Abnormal cerebral white matter morphology	9791	PTDSS1	OMIM:151050
HP:0002500	Abnormal cerebral white matter morphology	29899	GPSM2	OMIM:604213
HP:0002500	Abnormal cerebral white matter morphology	4001	LMNB1	OMIM:619179
HP:0002500	Abnormal cerebral white matter morphology	6651	SON	ORPHA:500150
HP:0002500	Abnormal cerebral white matter morphology	6651	SON	OMIM:617140
HP:0002500	Abnormal cerebral white matter morphology	9692	PRORP	OMIM:619737
HP:0002500	Abnormal cerebral white matter morphology	4659	PPP1R12A	OMIM:618820
HP:0002500	Abnormal cerebral white matter morphology	51807	TUBA8	ORPHA:250972
HP:0002500	Abnormal cerebral white matter morphology	93627	TBCK	OMIM:616900
HP:0002500	Abnormal cerebral white matter morphology	5361	PLXNA1	OMIM:619955
HP:0002500	Abnormal cerebral white matter morphology	374969	SVBP	OMIM:618569
HP:0002500	Abnormal cerebral white matter morphology	84081	NSRP1	OMIM:620001
HP:0002500	Abnormal cerebral white matter morphology	124454	EARS2	OMIM:614924
HP:0002500	Abnormal cerebral white matter morphology	83480	PUS3	ORPHA:488627
HP:0002500	Abnormal cerebral white matter morphology	5286	PIK3C2A	ORPHA:557003
HP:0002500	Abnormal cerebral white matter morphology	91647	ATPAF2	OMIM:604273
HP:0002500	Abnormal cerebral white matter morphology	57192	MCOLN1	OMIM:252650
HP:0002500	Abnormal cerebral white matter morphology	9786	KIAA0586	OMIM:616490
HP:0002500	Abnormal cerebral white matter morphology	79228	THOC6	ORPHA:363444
HP:0002500	Abnormal cerebral white matter morphology	23258	DENND5A	OMIM:617281
HP:0002500	Abnormal cerebral white matter morphology	23309	SIN3B	ORPHA:500166
HP:0002500	Abnormal cerebral white matter morphology	25942	SIN3A	ORPHA:500166
HP:0002500	Abnormal cerebral white matter morphology	25942	SIN3A	OMIM:613406
HP:0002500	Abnormal cerebral white matter morphology	10524	KAT5	OMIM:619103
HP:0002500	Abnormal cerebral white matter morphology	205327	C2orf69	OMIM:619423
HP:0002500	Abnormal cerebral white matter morphology	22978	NT5C2	OMIM:613162
HP:0002500	Abnormal cerebral white matter morphology	5283	PIGH	OMIM:618010
HP:0002500	Abnormal cerebral white matter morphology	23287	AGTPBP1	OMIM:618276
HP:0002500	Abnormal cerebral white matter morphology	3313	HSPA9	OMIM:616854
HP:0002500	Abnormal cerebral white matter morphology	283989	TSEN54	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	116461	TSEN15	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	79042	TSEN34	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	80746	TSEN2	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	51091	SEPSECS	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	4953	ODC1	ORPHA:544488
HP:0002500	Abnormal cerebral white matter morphology	25914	RTTN	OMIM:614833
HP:0002500	Abnormal cerebral white matter morphology	55210	ATAD3A	OMIM:618810
HP:0002500	Abnormal cerebral white matter morphology	1642	DDB1	OMIM:619426
HP:0002500	Abnormal cerebral white matter morphology	79633	FAT4	ORPHA:314679
HP:0002500	Abnormal cerebral white matter morphology	8642	DCHS1	ORPHA:314679
HP:0002500	Abnormal cerebral white matter morphology	4713	NDUFB7	OMIM:620135
HP:0002500	Abnormal cerebral white matter morphology	291	SLC25A4	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	5428	POLG	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	56652	TWNK	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	50484	RRM2B	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	8635	RNASET2	OMIM:612951
HP:0002500	Abnormal cerebral white matter morphology	23394	ADNP	ORPHA:404448
HP:0002500	Abnormal cerebral white matter morphology	91574	MTRFR	ORPHA:320375
HP:0002500	Abnormal cerebral white matter morphology	7248	TSC1	OMIM:607341
HP:0002500	Abnormal cerebral white matter morphology	7249	TSC2	OMIM:607341
HP:0002500	Abnormal cerebral white matter morphology	2475	MTOR	OMIM:607341
HP:0002500	Abnormal cerebral white matter morphology	728294	D2HGDH	OMIM:600721
HP:0002500	Abnormal cerebral white matter morphology	10166	SLC25A15	ORPHA:415
HP:0002500	Abnormal cerebral white matter morphology	51256	TBC1D7	OMIM:248000
HP:0002500	Abnormal cerebral white matter morphology	22983	MAST1	OMIM:618273
HP:0002500	Abnormal cerebral white matter morphology	51780	KDM3B	OMIM:618846
HP:0002500	Abnormal cerebral white matter morphology	815	CAMK2A	OMIM:617798
HP:0002500	Abnormal cerebral white matter morphology	23334	SZT2	OMIM:615476
HP:0002500	Abnormal cerebral white matter morphology	894	CCND2	OMIM:615938
HP:0002500	Abnormal cerebral white matter morphology	113246	C12orf57	OMIM:218340
HP:0002500	Abnormal cerebral white matter morphology	157680	VPS13B	OMIM:216550
HP:0002500	Abnormal cerebral white matter morphology	158	ADSL	ORPHA:46
HP:0002500	Abnormal cerebral white matter morphology	3735	KARS1	OMIM:619196
HP:0002500	Abnormal cerebral white matter morphology	135	ADORA2A	ORPHA:363549
HP:0002500	Abnormal cerebral white matter morphology	387787	LIPT2	OMIM:617668
HP:0002500	Abnormal cerebral white matter morphology	5162	PDHB	ORPHA:255138
HP:0002500	Abnormal cerebral white matter morphology	53834	FGFRL1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	1487	CTBP1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	3954	LETM1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	7468	NSD2	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	10815	CPLX1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	2670	GFAP	ORPHA:363722
HP:0002500	Abnormal cerebral white matter morphology	4952	OCRL	OMIM:309000
HP:0002500	Abnormal cerebral white matter morphology	8050	PDHX	ORPHA:255182
HP:0002500	Abnormal cerebral white matter morphology	790955	UQCC3	OMIM:616111
HP:0002500	Abnormal cerebral white matter morphology	2193	FARSA	OMIM:619013
HP:0002500	Abnormal cerebral white matter morphology	29925	GMPPB	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	79147	FKRP	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	29954	POMT2	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	84197	POMK	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	55624	POMGNT1	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	10585	POMT1	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	8925	HERC1	ORPHA:457359
HP:0002500	Abnormal cerebral white matter morphology	54453	RIN2	OMIM:613075
HP:0002500	Abnormal cerebral white matter morphology	64857	PLEKHG2	OMIM:616763
HP:0002500	Abnormal cerebral white matter morphology	55823	VPS11	ORPHA:466934
HP:0002500	Abnormal cerebral white matter morphology	92609	TIMM50	ORPHA:505216
HP:0002500	Abnormal cerebral white matter morphology	220296	HEPACAM	OMIM:613925
HP:0002500	Abnormal cerebral white matter morphology	220296	HEPACAM	OMIM:613926
HP:0002500	Abnormal cerebral white matter morphology	6792	CDKL5	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	3736	KCNA1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	9091	PIGQ	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2775	GNAO1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	81603	TRIM8	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2902	GRIN1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2902	GRIN1	ORPHA:208447
HP:0002500	Abnormal cerebral white matter morphology	79751	SLC25A22	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	150094	SIK1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	8573	CASK	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	23312	DMXL2	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2917	GRM7	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	170302	ARX	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	11284	PNKP	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	6326	SCN2A	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	51227	PIGP	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	6324	SCN1B	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	9990	SLC12A6	OMIM:218000
HP:0002500	Abnormal cerebral white matter morphology	28962	OSTM1	OMIM:259720
HP:0002500	Abnormal cerebral white matter morphology	25915	NDUFAF3	ORPHA:70474
HP:0002500	Abnormal cerebral white matter morphology	4714	NDUFB8	ORPHA:70474
HP:0002500	Abnormal cerebral white matter morphology	4720	NDUFS2	ORPHA:70474
HP:0002500	Abnormal cerebral white matter morphology	9997	SCO2	ORPHA:70474
HP:0002500	Abnormal cerebral white matter morphology	6834	SURF1	ORPHA:70474
HP:0002500	Abnormal cerebral white matter morphology	1513	CTSK	ORPHA:763
HP:0002500	Abnormal cerebral white matter morphology	9289	ADGRG1	OMIM:606854
HP:0002500	Abnormal cerebral white matter morphology	9289	ADGRG1	ORPHA:101070
HP:0002500	Abnormal cerebral white matter morphology	6663	SOX10	OMIM:609136
HP:0002500	Abnormal cerebral white matter morphology	5728	PTEN	ORPHA:101070
HP:0002500	Abnormal cerebral white matter morphology	25939	SAMHD1	OMIM:612952
HP:0002500	Abnormal cerebral white matter morphology	84340	GFM2	ORPHA:565624
HP:0002500	Abnormal cerebral white matter morphology	23209	MLC1	OMIM:604004
HP:0002500	Abnormal cerebral white matter morphology	1161	ERCC8	ORPHA:90324
HP:0002500	Abnormal cerebral white matter morphology	1161	ERCC8	ORPHA:90322
HP:0002500	Abnormal cerebral white matter morphology	727676	SNORD118	ORPHA:542310
HP:0002500	Abnormal cerebral white matter morphology	2067	ERCC1	ORPHA:90322
HP:0002500	Abnormal cerebral white matter morphology	79600	TCTN1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	79600	TCTN1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	200894	ARL13B	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	9731	CEP104	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	23247	KATNIP	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	219854	TMEM218	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	79867	TCTN2	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	79867	TCTN2	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	80776	B9D2	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	80776	B9D2	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	10464	PIBF1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	25776	CBY1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	27077	B9D1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	27077	B9D1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	403	ARL3	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	3981	LIG4	ORPHA:235
HP:0002500	Abnormal cerebral white matter morphology	54888	NSUN2	ORPHA:235
HP:0002500	Abnormal cerebral white matter morphology	27238	GPKOW	ORPHA:2570
HP:0002500	Abnormal cerebral white matter morphology	6197	RPS6KA3	ORPHA:192
HP:0002500	Abnormal cerebral white matter morphology	3265	HRAS	ORPHA:2612
HP:0002500	Abnormal cerebral white matter morphology	4893	NRAS	ORPHA:2612
HP:0002500	Abnormal cerebral white matter morphology	64327	LMBR1	ORPHA:2378
HP:0002500	Abnormal cerebral white matter morphology	673	BRAF	OMIM:115150
HP:0002500	Abnormal cerebral white matter morphology	95	ACY1	ORPHA:137754
HP:0002500	Abnormal cerebral white matter morphology	54968	TMEM70	ORPHA:1194
HP:0002500	Abnormal cerebral white matter morphology	51715	RAB23	OMIM:201000
HP:0002500	Abnormal cerebral white matter morphology	84162	BLTP1	OMIM:617822
HP:0002500	Abnormal cerebral white matter morphology	2314	FLII	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	23096	IQSEC2	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	10522	DEAF1	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	51114	ZDHHC9	ORPHA:776
HP:0002500	Abnormal cerebral white matter morphology	65109	UPF3B	ORPHA:776
HP:0002500	Abnormal cerebral white matter morphology	5189	PEX1	OMIM:214100
HP:0002500	Abnormal cerebral white matter morphology	10479	SLC9A6	ORPHA:85278
HP:0002500	Abnormal cerebral white matter morphology	10225	CD96	ORPHA:1308
HP:0002500	Abnormal cerebral white matter morphology	79583	TMEM231	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	79583	TMEM231	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	51524	TMEM138	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	23090	ZNF423	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	10210	TOPORS	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	317662	FAM149B1	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	8260	NAA10	ORPHA:568
HP:0002500	Abnormal cerebral white matter morphology	84314	TMEM107	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	57096	RPGRIP1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	79770	TXNDC15	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	9184	BUB3	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	699	BUB1	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	9702	CEP57	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	9319	TRIP13	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	29980	DONSON	OMIM:251230
HP:0002500	Abnormal cerebral white matter morphology	4702	NDUFA8	OMIM:619272
HP:0002500	Abnormal cerebral white matter morphology	4099	MAG	OMIM:616680
HP:0002500	Abnormal cerebral white matter morphology	4125	MAN2B1	OMIM:248500
HP:0002500	Abnormal cerebral white matter morphology	777	CACNA1E	OMIM:618285
HP:0002500	Abnormal cerebral white matter morphology	64207	IRF2BPL	OMIM:618088
HP:0002500	Abnormal cerebral white matter morphology	51728	POLR3K	OMIM:619310
HP:0002500	Abnormal cerebral white matter morphology	10273	STUB1	ORPHA:412057
HP:0002500	Abnormal cerebral white matter morphology	9255	AIMP1	OMIM:260600
HP:0002500	Abnormal cerebral white matter morphology	51692	CPSF3	OMIM:619876
HP:0002500	Abnormal cerebral white matter morphology	4191	MDH2	OMIM:617339
HP:0002500	Abnormal cerebral white matter morphology	27072	VPS41	OMIM:619389
HP:0002500	Abnormal cerebral white matter morphology	51761	ATP8A2	OMIM:615268
HP:0002500	Abnormal cerebral white matter morphology	79944	L2HGDH	OMIM:236792
HP:0002500	Abnormal cerebral white matter morphology	4558	MT-TF	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4572	MT-TQ	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4512	MT-CO1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4513	MT-CO2	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4514	MT-CO3	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4578	MT-TW	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4540	MT-ND5	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4541	MT-ND6	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4535	MT-ND1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4538	MT-ND4	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4567	MT-TL1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4574	MT-TS1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4575	MT-TS2	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4564	MT-TH	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	9839	ZEB2	OMIM:235730
HP:0002500	Abnormal cerebral white matter morphology	29968	PSAT1	ORPHA:284417
HP:0002500	Abnormal cerebral white matter morphology	4677	NARS1	OMIM:619091
HP:0002500	Abnormal cerebral white matter morphology	23028	KDM1A	ORPHA:477993
HP:0002500	Abnormal cerebral white matter morphology	23028	KDM1A	OMIM:616728
HP:0002500	Abnormal cerebral white matter morphology	51075	TMX2	OMIM:618730
HP:0002500	Abnormal cerebral white matter morphology	2232	FDXR	ORPHA:543470
HP:0002500	Abnormal cerebral white matter morphology	10352	WARS2	ORPHA:572798
HP:0002500	Abnormal cerebral white matter morphology	112939	NACC1	ORPHA:500545
HP:0002500	Abnormal cerebral white matter morphology	6513	SLC2A1	ORPHA:168577
HP:0002500	Abnormal cerebral white matter morphology	347733	TUBB2B	ORPHA:467166
HP:0002500	Abnormal cerebral white matter morphology	10466	COG5	ORPHA:263487
HP:0002500	Abnormal cerebral white matter morphology	10134	BCAP31	ORPHA:369939
HP:0002500	Abnormal cerebral white matter morphology	63899	NSUN3	OMIM:619012
HP:0002500	Abnormal cerebral white matter morphology	60684	TRAPPC11	ORPHA:369840
HP:0002500	Abnormal cerebral white matter morphology	128240	NAXE	OMIM:617186
HP:0002500	Abnormal cerebral white matter morphology	3658	IREB2	OMIM:618451
HP:0002500	Abnormal cerebral white matter morphology	10398	MYL9	OMIM:619365
HP:0002500	Abnormal cerebral white matter morphology	84668	HYCC1	OMIM:610532
HP:0002500	Abnormal cerebral white matter morphology	6311	ATXN2	ORPHA:98756
HP:0002500	Abnormal cerebral white matter morphology	443	ASPA	ORPHA:314911
HP:0002500	Abnormal cerebral white matter morphology	3417	IDH1	ORPHA:99646
HP:0002500	Abnormal cerebral white matter morphology	2760	GM2A	ORPHA:309246
HP:0002500	Abnormal cerebral white matter morphology	1630	DCC	OMIM:617542
HP:0002500	Abnormal cerebral white matter morphology	473	RERE	OMIM:616975
HP:0002500	Abnormal cerebral white matter morphology	23516	SLC39A14	OMIM:617013
HP:0002500	Abnormal cerebral white matter morphology	23516	SLC39A14	ORPHA:521406
HP:0002500	Abnormal cerebral white matter morphology	79853	TM4SF20	OMIM:615432
HP:0002500	Abnormal cerebral white matter morphology	221496	LEMD2	OMIM:619322
HP:0002500	Abnormal cerebral white matter morphology	5290	PIK3CA	ORPHA:99802
HP:0002500	Abnormal cerebral white matter morphology	8913	CACNA1G	ORPHA:458803
HP:0002500	Abnormal cerebral white matter morphology	91869	RFT1	ORPHA:244310
HP:0002500	Abnormal cerebral white matter morphology	6572	SLC18A3	OMIM:617239
HP:0002500	Abnormal cerebral white matter morphology	2055	CLN8	ORPHA:1947
HP:0002500	Abnormal cerebral white matter morphology	6821	SUOX	OMIM:272300
HP:0002500	Abnormal cerebral white matter morphology	2583	B4GALNT1	ORPHA:101006
HP:0002500	Abnormal cerebral white matter morphology	6390	SDHB	OMIM:619224
HP:0002500	Abnormal cerebral white matter morphology	55154	MSTO1	ORPHA:502423
HP:0002500	Abnormal cerebral white matter morphology	1203	CLN5	ORPHA:228360
HP:0002500	Abnormal cerebral white matter morphology	51324	SPG21	OMIM:248900
HP:0002500	Abnormal cerebral white matter morphology	84065	TMEM222	OMIM:619470
HP:0002500	Abnormal cerebral white matter morphology	7555	CNBP	OMIM:602668
HP:0002500	Abnormal cerebral white matter morphology	6134	RPL10	OMIM:300998
HP:0002500	Abnormal cerebral white matter morphology	5058	PAK1	OMIM:618158
HP:0002500	Abnormal cerebral white matter morphology	4761	NEUROD2	OMIM:618374
HP:0002500	Abnormal cerebral white matter morphology	23259	DDHD2	OMIM:615033
HP:0002500	Abnormal cerebral white matter morphology	23259	DDHD2	ORPHA:320380
HP:0002500	Abnormal cerebral white matter morphology	22866	CNKSR2	OMIM:301008
HP:0002500	Abnormal cerebral white matter morphology	92335	STRADA	ORPHA:500533
HP:0002500	Abnormal cerebral white matter morphology	51412	ACTL6B	OMIM:618468
HP:0002500	Abnormal cerebral white matter morphology	25974	MMACHC	ORPHA:79282
HP:0002500	Abnormal cerebral white matter morphology	2783	GNB2	OMIM:619503
HP:0002500	Abnormal cerebral white matter morphology	7920	ABHD16A	OMIM:619735
HP:0002500	Abnormal cerebral white matter morphology	25782	RAB3GAP2	OMIM:212720
HP:0002500	Abnormal cerebral white matter morphology	85465	SELENOI	OMIM:618768
HP:0002500	Abnormal cerebral white matter morphology	59	ACTA2	OMIM:613834
HP:0002500	Abnormal cerebral white matter morphology	9907	AP5Z1	OMIM:613647
HP:0002500	Abnormal cerebral white matter morphology	80036	TRPM3	OMIM:620224
HP:0002500	Abnormal cerebral white matter morphology	10060	ABCC9	OMIM:619719
HP:0002500	Abnormal cerebral white matter morphology	5654	HTRA1	ORPHA:199354
HP:0002500	Abnormal cerebral white matter morphology	23503	ZFYVE26	ORPHA:100996
HP:0002500	Abnormal cerebral white matter morphology	27183	VPS4A	OMIM:619273
HP:0002500	Abnormal cerebral white matter morphology	55703	POLR3B	OMIM:614381
HP:0002500	Abnormal cerebral white matter morphology	57003	CCDC47	OMIM:618268
HP:0002500	Abnormal cerebral white matter morphology	9759	HDAC4	OMIM:619797
HP:0002500	Abnormal cerebral white matter morphology	1182	CLCN3	OMIM:619512
HP:0002500	Abnormal cerebral white matter morphology	1182	CLCN3	OMIM:619517
HP:0002500	Abnormal cerebral white matter morphology	7862	BRPF1	OMIM:617333
HP:0002500	Abnormal cerebral white matter morphology	23126	POGZ	OMIM:616364
HP:0002500	Abnormal cerebral white matter morphology	343450	KCNT2	OMIM:617771
HP:0002500	Abnormal cerebral white matter morphology	1213	CLTC	OMIM:617854
HP:0002500	Abnormal cerebral white matter morphology	23040	MYT1L	OMIM:616521
HP:0002500	Abnormal cerebral white matter morphology	2972	BRF1	OMIM:616202
HP:0002500	Abnormal cerebral white matter morphology	3839	KPNA3	OMIM:620106
HP:0002500	Abnormal cerebral white matter morphology	11340	EXOSC8	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	5393	EXOSC9	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	51010	EXOSC3	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	7443	VRK1	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	91137	SLC25A46	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	4897	NRCAM	OMIM:619833
HP:0002500	Abnormal cerebral white matter morphology	116115	ZNF526	OMIM:619877
HP:0002500	Abnormal cerebral white matter morphology	4329	ALDH6A1	OMIM:614105
HP:0002500	Abnormal cerebral white matter morphology	347734	SLC35B2	OMIM:620269
HP:0002500	Abnormal cerebral white matter morphology	3008	H1-4	OMIM:617537
HP:0002500	Abnormal cerebral white matter morphology	55733	HHAT	OMIM:600092
HP:0002500	Abnormal cerebral white matter morphology	90624	LYRM7	OMIM:615838
HP:0002500	Abnormal cerebral white matter morphology	1119	CHKA	OMIM:620023
HP:0002500	Abnormal cerebral white matter morphology	93210	PGAP3	OMIM:615716
HP:0002500	Abnormal cerebral white matter morphology	83475	DOHH	OMIM:620066
HP:0002500	Abnormal cerebral white matter morphology	11198	SUPT16H	OMIM:619480
HP:0002500	Abnormal cerebral white matter morphology	5605	MAP2K2	OMIM:615280
HP:0002500	Abnormal cerebral white matter morphology	54828	BCAS3	OMIM:619641
HP:0002500	Abnormal cerebral white matter morphology	374354	NHLRC2	OMIM:618278
HP:0002500	Abnormal cerebral white matter morphology	9276	COPB2	OMIM:619884
HP:0002500	Abnormal cerebral white matter morphology	2316	FLNA	OMIM:300049
HP:0002500	Abnormal cerebral white matter morphology	3020	H3-3A	OMIM:619720
HP:0002500	Abnormal cerebral white matter morphology	55182	RNF220	OMIM:619688
HP:0002500	Abnormal cerebral white matter morphology	8867	SYNJ1	OMIM:617389
HP:0002500	Abnormal cerebral white matter morphology	9442	MED27	OMIM:619286
HP:0002500	Abnormal cerebral white matter morphology	477	ATP1A2	OMIM:619605
HP:0002500	Abnormal cerebral white matter morphology	478	ATP1A3	OMIM:619606
HP:0002500	Abnormal cerebral white matter morphology	166378	AFG2A	OMIM:616577
HP:0002500	Abnormal cerebral white matter morphology	318	NUDT2	OMIM:619844
HP:0002500	Abnormal cerebral white matter morphology	3097	HIVEP2	OMIM:616977
HP:0002500	Abnormal cerebral white matter morphology	10381	TUBB3	OMIM:614039
HP:0002500	Abnormal cerebral white matter morphology	23031	MAST3	OMIM:620115
HP:0002500	Abnormal cerebral white matter morphology	84520	GON7	OMIM:619603
HP:0002500	Abnormal cerebral white matter morphology	6509	SLC1A4	OMIM:616657
HP:0002500	Abnormal cerebral white matter morphology	9562	MINPP1	OMIM:619527
HP:0002500	Abnormal cerebral white matter morphology	79158	GNPTAB	OMIM:252500
HP:0002500	Abnormal cerebral white matter morphology	1759	DNM1	OMIM:620352
HP:0002500	Abnormal cerebral white matter morphology	23499	MACF1	ORPHA:572013
HP:0002500	Abnormal cerebral white matter morphology	387119	CEP85L	ORPHA:572013
HP:0002500	Abnormal cerebral white matter morphology	10430	TMEM147	OMIM:620075
HP:0002500	Abnormal cerebral white matter morphology	6595	SMARCA2	OMIM:619293
HP:0002500	Abnormal cerebral white matter morphology	5934	RBL2	OMIM:619690
HP:0002500	Abnormal cerebral white matter morphology	5354	PLP1	OMIM:312080
HP:0002500	Abnormal cerebral white matter morphology	7143	TNR	OMIM:619653
HP:0002500	Abnormal cerebral white matter morphology	23250	ATP11A	OMIM:619851
HP:0002500	Abnormal cerebral white matter morphology	4123	MAN2C1	OMIM:619775
HP:0002500	Abnormal cerebral white matter morphology	203068	TUBB	OMIM:615771
HP:0002500	Abnormal cerebral white matter morphology	85365	ALG2	OMIM:607906
HP:0002500	Abnormal cerebral white matter morphology	6601	SMARCC2	OMIM:618362
HP:0002500	Abnormal cerebral white matter morphology	92255	LMBRD2	OMIM:619694
HP:0002500	Abnormal cerebral white matter morphology	4781	NFIB	OMIM:618286
HP:0002500	Abnormal cerebral white matter morphology	111	ADCY5	OMIM:619651
HP:0002500	Abnormal cerebral white matter morphology	7283	TUBG1	OMIM:615412
HP:0002500	Abnormal cerebral white matter morphology	23522	KAT6B	OMIM:606170
HP:0002500	Abnormal cerebral white matter morphology	11232	POLG2	OMIM:618528
HP:0002500	Abnormal cerebral white matter morphology	9487	PIGL	OMIM:280000
HP:0002500	Abnormal cerebral white matter morphology	3796	KIF2A	OMIM:615411
HP:0002500	Abnormal cerebral white matter morphology	23219	FBXO28	OMIM:619777
HP:0002500	Abnormal cerebral white matter morphology	1107	CHD3	OMIM:618205
HP:0002500	Abnormal cerebral white matter morphology	9439	MED23	OMIM:614249
HP:0002500	Abnormal cerebral white matter morphology	819	CAMLG	OMIM:620201
HP:0002500	Abnormal cerebral white matter morphology	51608	GET4	OMIM:620200
HP:0002500	Abnormal cerebral white matter morphology	80208	SPG11	OMIM:602099
HP:0002500	Abnormal cerebral white matter morphology	2801	GOLGA2	OMIM:620240
HP:0002500	Abnormal cerebral white matter morphology	54806	AHI1	OMIM:608629
HP:0002500	Abnormal cerebral white matter morphology	2898	GRIK2	OMIM:619580
HP:0002500	Abnormal cerebral white matter morphology	26175	LYSET	OMIM:619345
HP:0002500	Abnormal cerebral white matter morphology	283987	HID1	OMIM:619983
HP:0002500	Abnormal cerebral white matter morphology	10159	ATP6AP2	OMIM:300423
HP:0002500	Abnormal cerebral white matter morphology	5442	POLRMT	OMIM:619743
HP:0002500	Abnormal cerebral white matter morphology	127833	SYT2	OMIM:619461
HP:0002500	Abnormal cerebral white matter morphology	3980	LIG3	OMIM:619780
HP:0002500	Abnormal cerebral white matter morphology	1892	ECHS1	OMIM:616277
HP:0002500	Abnormal cerebral white matter morphology	79587	CARS2	OMIM:616672
HP:0002500	Abnormal cerebral white matter morphology	2720	GLB1	OMIM:253010
HP:0002500	Abnormal cerebral white matter morphology	221927	BRAT1	OMIM:614498
HP:0002500	Abnormal cerebral white matter morphology	58497	PRUNE1	ORPHA:544469
HP:0002500	Abnormal cerebral white matter morphology	4338	MOCS2	OMIM:252160
HP:0002500	Abnormal cerebral white matter morphology	3708	ITPR1	OMIM:206700
HP:0002500	Abnormal cerebral white matter morphology	9230	RAB11B	OMIM:617807
HP:0002500	Abnormal cerebral white matter morphology	79152	FA2H	OMIM:612319
HP:0002500	Abnormal cerebral white matter morphology	5297	PI4KA	OMIM:619708
HP:0002500	Abnormal cerebral white matter morphology	7074	TIAM1	OMIM:619908
HP:0002500	Abnormal cerebral white matter morphology	10533	ATG7	OMIM:619422
HP:0002500	Abnormal cerebral white matter morphology	10367	MICU1	OMIM:615673
HP:0002500	Abnormal cerebral white matter morphology	55252	ASXL2	OMIM:617190
HP:0002500	Abnormal cerebral white matter morphology	4704	NDUFA9	OMIM:618247
HP:0002500	Abnormal cerebral white matter morphology	375	ARF1	OMIM:618185
HP:0002500	Abnormal cerebral white matter morphology	54675	CRLS1	OMIM:620167
HP:0002500	Abnormal cerebral white matter morphology	51506	UFC1	OMIM:618076
HP:0002500	Abnormal cerebral white matter morphology	4700	NDUFA6	OMIM:618253
HP:0002500	Abnormal cerebral white matter morphology	54704	PDP1	ORPHA:79246
HP:0002500	Abnormal cerebral white matter morphology	2548	GAA	ORPHA:308552
HP:0002500	Abnormal cerebral white matter morphology	11277	TREX1	ORPHA:247691
HP:0002500	Abnormal cerebral white matter morphology	129685	TAF8	OMIM:619972
HP:0002500	Abnormal cerebral white matter morphology	197	AHSG	ORPHA:2850
HP:0002500	Abnormal cerebral white matter morphology	3694	ITGB6	ORPHA:2850
HP:0002501	Spasticity of pharyngeal muscles	57679	ALS2	OMIM:205100
HP:0002501	Spasticity of pharyngeal muscles	57679	ALS2	OMIM:606353
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	OMIM:109150
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276238
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276244
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276241
HP:0002503	Spinocerebellar tract degeneration	6311	ATXN2	OMIM:183090
HP:0002503	Spinocerebellar tract degeneration	5575	PRKAR1B	ORPHA:412066
HP:0002503	Spinocerebellar tract degeneration	2705	GJB1	ORPHA:1175
HP:0002503	Spinocerebellar tract degeneration	5354	PLP1	OMIM:312920
HP:0002503	Spinocerebellar tract degeneration	55775	TDP1	ORPHA:94124
HP:0002503	Spinocerebellar tract degeneration	85021	REPS1	OMIM:617916
HP:0002503	Spinocerebellar tract degeneration	6310	ATXN1	OMIM:164400
HP:0002503	Spinocerebellar tract degeneration	2729	GCLC	OMIM:230450
HP:0002503	Spinocerebellar tract degeneration	4125	MAN2B1	OMIM:248500
HP:0002504	Calcification of the small brain vessels	6575	SLC20A2	OMIM:213600
HP:0002504	Calcification of the small brain vessels	5155	PDGFB	OMIM:213600
HP:0002504	Calcification of the small brain vessels	5159	PDGFRB	OMIM:213600
HP:0002507	Semilobar holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0002507	Semilobar holoprosencephaly	7050	TGIF1	OMIM:142946
HP:0002507	Semilobar holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0002507	Semilobar holoprosencephaly	23019	CNOT1	ORPHA:556955
HP:0002507	Semilobar holoprosencephaly	23019	CNOT1	OMIM:618500
HP:0002507	Semilobar holoprosencephaly	10735	STAG2	OMIM:301043
HP:0002507	Semilobar holoprosencephaly	8243	SMC1A	OMIM:301044
HP:0002507	Semilobar holoprosencephaly	22872	SEC31A	OMIM:618651
HP:0002507	Semilobar holoprosencephaly	2260	FGFR1	OMIM:615465
HP:0002507	Semilobar holoprosencephaly	6496	SIX3	OMIM:157170
HP:0002509	Limb hypertonia	10682	EBP	ORPHA:401973
HP:0002509	Limb hypertonia	340075	ARSI	ORPHA:401815
HP:0002509	Limb hypertonia	8367	H4C5	OMIM:619950
HP:0002509	Limb hypertonia	57498	KIDINS220	OMIM:617296
HP:0002509	Limb hypertonia	56006	SMG9	OMIM:616920
HP:0002509	Limb hypertonia	26128	KIFBP	OMIM:609460
HP:0002509	Limb hypertonia	3098	HK1	OMIM:618547
HP:0002509	Limb hypertonia	2643	GCH1	OMIM:233910
HP:0002509	Limb hypertonia	25977	NECAP1	OMIM:615833
HP:0002509	Limb hypertonia	25977	NECAP1	ORPHA:442835
HP:0002509	Limb hypertonia	55325	UFSP2	OMIM:620028
HP:0002509	Limb hypertonia	9289	ADGRG1	ORPHA:98889
HP:0002509	Limb hypertonia	5297	PI4KA	ORPHA:98889
HP:0002509	Limb hypertonia	27286	SRPX2	ORPHA:98889
HP:0002509	Limb hypertonia	6697	SPR	ORPHA:70594
HP:0002509	Limb hypertonia	80222	TARS2	OMIM:615918
HP:0002509	Limb hypertonia	1161	ERCC8	ORPHA:90322
HP:0002509	Limb hypertonia	2067	ERCC1	ORPHA:90322
HP:0002509	Limb hypertonia	2074	ERCC6	ORPHA:90322
HP:0002509	Limb hypertonia	7343	UBTF	ORPHA:500180
HP:0002509	Limb hypertonia	111	ADCY5	OMIM:606703
HP:0002509	Limb hypertonia	111	ADCY5	ORPHA:324588
HP:0002509	Limb hypertonia	2258	FGF13	OMIM:301058
HP:0002509	Limb hypertonia	2258	FGF13	ORPHA:442835
HP:0002509	Limb hypertonia	51611	DPH5	OMIM:620070
HP:0002509	Limb hypertonia	5631	PRPS1	ORPHA:423479
HP:0002509	Limb hypertonia	2972	BRF1	ORPHA:444072
HP:0002509	Limb hypertonia	6531	SLC6A3	ORPHA:238455
HP:0002509	Limb hypertonia	56521	DNAJC12	OMIM:617384
HP:0002509	Limb hypertonia	64801	ARV1	OMIM:617020
HP:0002509	Limb hypertonia	64801	ARV1	ORPHA:442835
HP:0002509	Limb hypertonia	9578	CDC42BPB	OMIM:619841
HP:0002509	Limb hypertonia	440138	ALG11	ORPHA:280071
HP:0002509	Limb hypertonia	10300	KATNB1	OMIM:616212
HP:0002509	Limb hypertonia	51506	UFC1	OMIM:618076
HP:0002509	Limb hypertonia	2782	GNB1	ORPHA:488613
HP:0002509	Limb hypertonia	2782	GNB1	OMIM:616973
HP:0002509	Limb hypertonia	23310	NCAPD3	OMIM:617984
HP:0002509	Limb hypertonia	9373	PLAA	ORPHA:521426
HP:0002509	Limb hypertonia	64135	IFIH1	OMIM:615846
HP:0002509	Limb hypertonia	9562	MINPP1	OMIM:619527
HP:0002509	Limb hypertonia	1644	DDC	OMIM:608643
HP:0002509	Limb hypertonia	9829	DNAJC6	OMIM:615528
HP:0002509	Limb hypertonia	10978	CLP1	OMIM:615803
HP:0002509	Limb hypertonia	11128	POLR3A	ORPHA:3455
HP:0002509	Limb hypertonia	23065	EMC1	ORPHA:480898
HP:0002509	Limb hypertonia	23065	EMC1	OMIM:616875
HP:0002509	Limb hypertonia	9179	AP4M1	OMIM:612936
HP:0002509	Limb hypertonia	60386	SLC25A19	OMIM:607196
HP:0002509	Limb hypertonia	60386	SLC25A19	ORPHA:99742
HP:0002509	Limb hypertonia	55691	FRMD4A	ORPHA:466688
HP:0002509	Limb hypertonia	55252	ASXL2	OMIM:617190
HP:0002509	Limb hypertonia	9101	USP8	ORPHA:401795
HP:0002509	Limb hypertonia	1725	DHPS	OMIM:618480
HP:0002509	Limb hypertonia	25839	COG4	ORPHA:263501
HP:0002509	Limb hypertonia	25839	COG4	OMIM:613489
HP:0002509	Limb hypertonia	4718	NDUFC2	OMIM:619170
HP:0002509	Limb hypertonia	5805	PTS	OMIM:261640
HP:0002509	Limb hypertonia	84340	GFM2	ORPHA:565624
HP:0002509	Limb hypertonia	23221	RHOBTB2	OMIM:618004
HP:0002509	Limb hypertonia	4704	NDUFA9	OMIM:618247
HP:0002509	Limb hypertonia	440	ASNS	OMIM:615574
HP:0002509	Limb hypertonia	8913	CACNA1G	OMIM:618087
HP:0002509	Limb hypertonia	10463	SLC30A9	OMIM:617595
HP:0002509	Limb hypertonia	8120	AP3B2	OMIM:617276
HP:0002509	Limb hypertonia	8120	AP3B2	ORPHA:442835
HP:0002509	Limb hypertonia	10352	WARS2	OMIM:617710
HP:0002509	Limb hypertonia	10352	WARS2	ORPHA:572798
HP:0002509	Limb hypertonia	51227	PIGP	OMIM:617599
HP:0002509	Limb hypertonia	80746	TSEN2	OMIM:612389
HP:0002509	Limb hypertonia	29920	PYCR2	ORPHA:481152
HP:0002509	Limb hypertonia	2917	GRM7	OMIM:618922
HP:0002509	Limb hypertonia	28962	OSTM1	OMIM:259720
HP:0002509	Limb hypertonia	5095	PCCA	OMIM:606054
HP:0002509	Limb hypertonia	5096	PCCB	OMIM:606054
HP:0002509	Limb hypertonia	2898	GRIK2	OMIM:619580
HP:0002509	Limb hypertonia	6567	SLC16A2	ORPHA:59
HP:0002509	Limb hypertonia	57599	WDR48	ORPHA:401800
HP:0002509	Limb hypertonia	2906	GRIN2D	OMIM:617162
HP:0002509	Limb hypertonia	2906	GRIN2D	ORPHA:442835
HP:0002509	Limb hypertonia	221927	BRAT1	OMIM:618056
HP:0002509	Limb hypertonia	221927	BRAT1	OMIM:614498
HP:0002509	Limb hypertonia	10243	GPHN	OMIM:615501
HP:0002509	Limb hypertonia	6785	ELOVL4	OMIM:614457
HP:0002509	Limb hypertonia	3737	KCNA2	ORPHA:442835
HP:0002509	Limb hypertonia	1759	DNM1	ORPHA:442835
HP:0002509	Limb hypertonia	523	ATP6V1A	ORPHA:442835
HP:0002509	Limb hypertonia	10991	SLC38A3	ORPHA:442835
HP:0002509	Limb hypertonia	51343	FZR1	ORPHA:442835
HP:0002509	Limb hypertonia	22906	TRAK1	ORPHA:442835
HP:0002509	Limb hypertonia	2566	GABRG2	ORPHA:442835
HP:0002509	Limb hypertonia	1917	EEF1A2	ORPHA:442835
HP:0002509	Limb hypertonia	2561	GABRB2	ORPHA:442835
HP:0002509	Limb hypertonia	8831	SYNGAP1	ORPHA:442835
HP:0002509	Limb hypertonia	7532	YWHAG	ORPHA:442835
HP:0002509	Limb hypertonia	79876	UBA5	ORPHA:442835
HP:0002509	Limb hypertonia	6328	SCN3A	ORPHA:442835
HP:0002509	Limb hypertonia	2558	GABRA5	ORPHA:442835
HP:0002509	Limb hypertonia	781	CACNA2D1	ORPHA:442835
HP:0002509	Limb hypertonia	116150	NUS1	ORPHA:442835
HP:0002509	Limb hypertonia	10659	CELF2	ORPHA:442835
HP:0002509	Limb hypertonia	774	CACNA1B	ORPHA:442835
HP:0002509	Limb hypertonia	1213	CLTC	ORPHA:442835
HP:0002509	Limb hypertonia	51741	WWOX	ORPHA:442835
HP:0002509	Limb hypertonia	23334	SZT2	ORPHA:442835
HP:0002509	Limb hypertonia	51412	ACTL6B	ORPHA:442835
HP:0002509	Limb hypertonia	348980	HCN1	ORPHA:442835
HP:0002509	Limb hypertonia	6506	SLC1A2	ORPHA:442835
HP:0002509	Limb hypertonia	8867	SYNJ1	ORPHA:442835
HP:0002509	Limb hypertonia	477	ATP1A2	ORPHA:442835
HP:0002509	Limb hypertonia	3745	KCNB1	ORPHA:442835
HP:0002509	Limb hypertonia	284111	SLC13A5	ORPHA:442835
HP:0002509	Limb hypertonia	284111	SLC13A5	OMIM:615905
HP:0002509	Limb hypertonia	16	AARS1	ORPHA:442835
HP:0002509	Limb hypertonia	6334	SCN8A	ORPHA:442835
HP:0002509	Limb hypertonia	22866	CNKSR2	ORPHA:442835
HP:0002509	Limb hypertonia	9568	GABBR2	ORPHA:442835
HP:0002509	Limb hypertonia	2555	GABRA2	ORPHA:442835
HP:0002509	Limb hypertonia	55152	DALRD3	ORPHA:442835
HP:0002509	Limb hypertonia	773	CACNA1A	ORPHA:442835
HP:0002509	Limb hypertonia	26999	CYFIP2	ORPHA:442835
HP:0002509	Limb hypertonia	4915	NTRK2	ORPHA:442835
HP:0002509	Limb hypertonia	25973	PARS2	ORPHA:442835
HP:0002509	Limb hypertonia	23097	CDK19	ORPHA:442835
HP:0002509	Limb hypertonia	79947	DHDDS	ORPHA:442835
HP:0002509	Limb hypertonia	2257	FGF12	ORPHA:442835
HP:0002509	Limb hypertonia	5530	PPP3CA	ORPHA:442835
HP:0002509	Limb hypertonia	478	ATP1A3	ORPHA:442835
HP:0002509	Limb hypertonia	57572	DOCK6	OMIM:614219
HP:0002509	Limb hypertonia	59336	PRDM13	OMIM:619909
HP:0002509	Limb hypertonia	87178	PNPT1	ORPHA:319514
HP:0002509	Limb hypertonia	51062	ATL1	ORPHA:100984
HP:0002509	Limb hypertonia	8242	KDM5C	OMIM:300534
HP:0002509	Limb hypertonia	9197	SLC33A1	ORPHA:171863
HP:0002509	Limb hypertonia	23516	SLC39A14	OMIM:617013
HP:0002509	Limb hypertonia	546	ATRX	OMIM:309580
HP:0002509	Limb hypertonia	6389	SDHA	ORPHA:3208
HP:0002509	Limb hypertonia	6390	SDHB	ORPHA:3208
HP:0002509	Limb hypertonia	6392	SDHD	ORPHA:3208
HP:0002509	Limb hypertonia	644096	SDHAF1	ORPHA:3208
HP:0002509	Limb hypertonia	7994	KAT6A	OMIM:616268
HP:0002509	Limb hypertonia	54834	GDAP2	OMIM:618369
HP:0002509	Limb hypertonia	3930	LBR	OMIM:169400
HP:0002509	Limb hypertonia	10939	AFG3L2	OMIM:610246
HP:0002509	Limb hypertonia	23028	KDM1A	OMIM:616728
HP:0002509	Limb hypertonia	23028	KDM1A	ORPHA:477993
HP:0002509	Limb hypertonia	84188	FAR1	ORPHA:447753
HP:0002509	Limb hypertonia	5832	ALDH18A1	ORPHA:447753
HP:0002509	Limb hypertonia	171023	ASXL1	ORPHA:97297
HP:0002509	Limb hypertonia	100147744	RNU7-1	OMIM:619487
HP:0002509	Limb hypertonia	5917	RARS1	ORPHA:438114
HP:0002509	Limb hypertonia	79152	FA2H	ORPHA:171629
HP:0002509	Limb hypertonia	4552	MTRR	ORPHA:2169
HP:0002509	Limb hypertonia	3798	KIF5A	OMIM:604187
HP:0002509	Limb hypertonia	5277	PIGA	OMIM:301072
HP:0002509	Limb hypertonia	55343	SLC35C1	ORPHA:99843
HP:0002509	Limb hypertonia	283989	TSEN54	ORPHA:2524
HP:0002509	Limb hypertonia	116461	TSEN15	ORPHA:2524
HP:0002509	Limb hypertonia	79042	TSEN34	ORPHA:2524
HP:0002509	Limb hypertonia	51091	SEPSECS	ORPHA:2524
HP:0002509	Limb hypertonia	55149	MTPAP	OMIM:613672
HP:0002509	Limb hypertonia	55149	MTPAP	ORPHA:254343
HP:0002509	Limb hypertonia	6687	SPG7	OMIM:607259
HP:0002509	Limb hypertonia	137492	VPS37A	ORPHA:319199
HP:0002509	Limb hypertonia	137492	VPS37A	OMIM:614898
HP:0002509	Limb hypertonia	5010	CLDN11	OMIM:619328
HP:0012720	Neoplasm of the nose	6794	STK11	ORPHA:2869
HP:0012720	Neoplasm of the nose	5573	PRKAR1A	ORPHA:1359
HP:0012720	Neoplasm of the nose	50940	PDE11A	ORPHA:1359
HP:0012721	Venous malformation	5290	PIK3CA	OMIM:613089
HP:0012721	Venous malformation	5290	PIK3CA	OMIM:612918
HP:0012721	Venous malformation	207	AKT1	OMIM:176920
HP:0012721	Venous malformation	5921	RASA1	ORPHA:90307
HP:0012721	Venous malformation	11235	PDCD10	ORPHA:221061
HP:0012721	Venous malformation	83605	CCM2	ORPHA:221061
HP:0012721	Venous malformation	889	KRIT1	ORPHA:221061
HP:0012721	Venous malformation	11146	GLMN	ORPHA:83454
HP:0012721	Venous malformation	4488	MSX2	ORPHA:60015
HP:0012721	Venous malformation	60529	ALX4	ORPHA:60015
HP:0012721	Venous malformation	7010	TEK	OMIM:600195
HP:0012723	Sinoatrial block	4000	LMNA	ORPHA:300751
HP:0012723	Sinoatrial block	2783	GNB2	OMIM:619464
HP:0012724	Upper eyelid edema	7994	KAT6A	OMIM:616268
HP:0012724	Upper eyelid edema	22907	DHX30	OMIM:617804
HP:0012724	Upper eyelid edema	55315	SLC29A3	ORPHA:168569
HP:0012724	Upper eyelid edema	116931	MED12L	OMIM:618872
HP:0012724	Upper eyelid edema	54453	RIN2	ORPHA:217335
HP:0012724	Upper eyelid edema	55691	FRMD4A	OMIM:616819
HP:0012725	Cutaneous syndactyly	1147	CHUK	OMIM:619339
HP:0012725	Cutaneous syndactyly	7291	TWIST1	OMIM:617746
HP:0012725	Cutaneous syndactyly	1717	DHCR7	OMIM:270400
HP:0012725	Cutaneous syndactyly	4204	MECP2	OMIM:300260
HP:0012725	Cutaneous syndactyly	54880	BCOR	OMIM:300166
HP:0012725	Cutaneous syndactyly	6134	RPL10	OMIM:300998
HP:0012725	Cutaneous syndactyly	8295	TRRAP	OMIM:618454
HP:0012725	Cutaneous syndactyly	91179	SCARF2	OMIM:600920
HP:0012725	Cutaneous syndactyly	23288	IQCE	OMIM:617642
HP:0012725	Cutaneous syndactyly	5587	PRKD1	OMIM:617364
HP:0012725	Cutaneous syndactyly	81607	NECTIN4	OMIM:613573
HP:0012725	Cutaneous syndactyly	55784	MCTP2	ORPHA:1596
HP:0012725	Cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0012725	Cutaneous syndactyly	8823	FGF16	OMIM:309630
HP:0012725	Cutaneous syndactyly	64093	SMOC1	OMIM:206920
HP:0012725	Cutaneous syndactyly	10522	DEAF1	OMIM:615828
HP:0012725	Cutaneous syndactyly	10079	ATP9A	OMIM:620242
HP:0012725	Cutaneous syndactyly	2556	GABRA3	OMIM:301091
HP:0012725	Cutaneous syndactyly	51776	MAP3K20	ORPHA:488232
HP:0012725	Cutaneous syndactyly	374969	SVBP	OMIM:618569
HP:0012725	Cutaneous syndactyly	1859	DYRK1A	ORPHA:268261
HP:0012725	Cutaneous syndactyly	64327	LMBR1	OMIM:186200
HP:0012725	Cutaneous syndactyly	9791	PTDSS1	OMIM:151050
HP:0012725	Cutaneous syndactyly	4621	MYH3	OMIM:178110
HP:0012725	Cutaneous syndactyly	63895	PIEZO2	OMIM:114300
HP:0012725	Cutaneous syndactyly	4998	ORC1	OMIM:224690
HP:0012725	Cutaneous syndactyly	22856	CHSY1	ORPHA:363417
HP:0012725	Cutaneous syndactyly	4038	LRP4	OMIM:614305
HP:0012725	Cutaneous syndactyly	23592	LEMD3	ORPHA:1306
HP:0012725	Cutaneous syndactyly	147372	CCBE1	OMIM:235510
HP:0012725	Cutaneous syndactyly	80144	FRAS1	OMIM:219000
HP:0012725	Cutaneous syndactyly	1009	CDH11	OMIM:211380
HP:0012725	Cutaneous syndactyly	5077	PAX3	OMIM:148820
HP:0012725	Cutaneous syndactyly	5077	PAX3	ORPHA:896
HP:0012725	Cutaneous syndactyly	3239	HOXD13	OMIM:186300
HP:0012725	Cutaneous syndactyly	117581	TWIST2	OMIM:200110
HP:0012725	Cutaneous syndactyly	4920	ROR2	OMIM:113000
HP:0012725	Cutaneous syndactyly	26040	SETBP1	OMIM:616078
HP:0012725	Cutaneous syndactyly	3664	IRF6	OMIM:119500
HP:0012725	Cutaneous syndactyly	57728	WDR19	OMIM:614378
HP:0012725	Cutaneous syndactyly	55012	PPP2R3C	OMIM:618419
HP:0012725	Cutaneous syndactyly	1954	MEGF8	OMIM:614976
HP:0012725	Cutaneous syndactyly	8642	DCHS1	OMIM:601390
HP:0012725	Cutaneous syndactyly	2263	FGFR2	OMIM:101200
HP:0012725	Cutaneous syndactyly	5818	NECTIN1	OMIM:225060
HP:0012725	Cutaneous syndactyly	4626	MYH8	OMIM:158300
HP:0012725	Cutaneous syndactyly	2254	FGF9	OMIM:612961
HP:0012725	Cutaneous syndactyly	9241	NOG	OMIM:611377
HP:0012725	Cutaneous syndactyly	79633	FAT4	OMIM:615546
HP:0012725	Cutaneous syndactyly	1387	CREBBP	OMIM:618332
HP:0012725	Cutaneous syndactyly	64116	SLC39A8	ORPHA:468699
HP:0012725	Cutaneous syndactyly	2033	EP300	OMIM:618333
HP:0012725	Cutaneous syndactyly	56916	SMARCAD1	OMIM:129200
HP:0012725	Cutaneous syndactyly	2737	GLI3	ORPHA:672
HP:0012725	Cutaneous syndactyly	284252	KCTD1	OMIM:181270
HP:0012725	Cutaneous syndactyly	8626	TP63	ORPHA:69085
HP:0012725	Cutaneous syndactyly	8294	H4C9	OMIM:619951
HP:0012725	Cutaneous syndactyly	7994	KAT6A	OMIM:616268
HP:0012725	Cutaneous syndactyly	775	CACNA1C	OMIM:620029
HP:0012725	Cutaneous syndactyly	2697	GJA1	OMIM:257850
HP:0012725	Cutaneous syndactyly	29123	ANKRD11	ORPHA:2332
HP:0012725	Cutaneous syndactyly	29123	ANKRD11	OMIM:148050
HP:0012725	Cutaneous syndactyly	64131	XYLT1	OMIM:615777
HP:0012725	Cutaneous syndactyly	150468	CKAP2L	OMIM:272440
HP:0012725	Cutaneous syndactyly	55165	CEP55	OMIM:236500
HP:0012725	Cutaneous syndactyly	526	ATP6V1B2	ORPHA:79500
HP:0012725	Cutaneous syndactyly	57465	TBC1D24	ORPHA:79500
HP:0012725	Cutaneous syndactyly	9896	FIG4	OMIM:216340
HP:0012725	Cutaneous syndactyly	727857	BHLHA9	OMIM:607539
HP:0012725	Cutaneous syndactyly	1500	CTNND1	OMIM:617681
HP:0012725	Cutaneous syndactyly	4212	MEIS2	OMIM:600987
HP:0012725	Cutaneous syndactyly	29998	BICRA	OMIM:619325
HP:0012725	Cutaneous syndactyly	84162	BLTP1	OMIM:617822
HP:0012725	Cutaneous syndactyly	23426	GRIP1	OMIM:617667
HP:0012725	Cutaneous syndactyly	341640	FREM2	OMIM:617666
HP:0012725	Cutaneous syndactyly	9772	TMEM94	OMIM:618316
HP:0012725	Cutaneous syndactyly	999	CDH1	OMIM:119580
HP:0012725	Cutaneous syndactyly	374654	KIF7	ORPHA:166024
HP:0012725	Cutaneous syndactyly	8241	RBM10	OMIM:311900
HP:0012726	Episodic hypokalemia	6329	SCN4A	ORPHA:681
HP:0012726	Episodic hypokalemia	779	CACNA1S	ORPHA:681
HP:0012726	Episodic hypokalemia	779	CACNA1S	ORPHA:79102
HP:0012726	Episodic hypokalemia	10008	KCNE3	ORPHA:681
HP:0012726	Episodic hypokalemia	100134444	KCNJ18	ORPHA:79102
HP:0012726	Episodic hypokalemia	2556	GABRA3	ORPHA:79102
HP:0012726	Episodic hypokalemia	476	ATP1A1	ORPHA:564178
HP:0012727	Thoracic aortic aneurysm	1161	ERCC8	ORPHA:90324
HP:0012727	Thoracic aortic aneurysm	2074	ERCC6	ORPHA:90324
HP:0012727	Thoracic aortic aneurysm	490	ATP2B1	OMIM:619910
HP:0012727	Thoracic aortic aneurysm	8854	ALDH1A2	OMIM:620025
HP:0012727	Thoracic aortic aneurysm	81031	SLC2A10	ORPHA:3342
HP:0012727	Thoracic aortic aneurysm	81031	SLC2A10	OMIM:208050
HP:0012727	Thoracic aortic aneurysm	1788	DNMT3A	ORPHA:404443
HP:0012727	Thoracic aortic aneurysm	27125	AFF4	ORPHA:444077
HP:0012727	Thoracic aortic aneurysm	23556	PIGN	ORPHA:280633
HP:0012727	Thoracic aortic aneurysm	1278	COL1A2	ORPHA:230851
HP:0012727	Thoracic aortic aneurysm	1289	COL5A1	OMIM:130000
HP:0012727	Thoracic aortic aneurysm	1289	COL5A1	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	2201	FBN2	OMIM:121050
HP:0012727	Thoracic aortic aneurysm	30008	EFEMP2	OMIM:614437
HP:0012727	Thoracic aortic aneurysm	5500	PPP1CB	OMIM:617506
HP:0012727	Thoracic aortic aneurysm	51726	DNAJB11	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	23193	GANAB	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	5310	PKD1	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	5311	PKD2	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	29880	ALG5	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	9742	IFT140	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	79796	ALG9	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	80114	BICC1	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	3190	HNRNPK	OMIM:616580
HP:0012727	Thoracic aortic aneurysm	84665	MYPN	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	7169	TPM2	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	7170	TPM3	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	165	AEBP1	OMIM:618000
HP:0012727	Thoracic aortic aneurysm	165	AEBP1	ORPHA:536532
HP:0012727	Thoracic aortic aneurysm	284058	KANSL1	OMIM:610443
HP:0012727	Thoracic aortic aneurysm	5238	PGM3	OMIM:615816
HP:0012727	Thoracic aortic aneurysm	1277	COL1A1	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	1290	COL5A2	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	9469	CHST3	OMIM:245600
HP:0012727	Thoracic aortic aneurysm	26229	B3GAT3	OMIM:245600
HP:0012727	Thoracic aortic aneurysm	4883	NPR3	OMIM:619543
HP:0012727	Thoracic aortic aneurysm	79576	NKAP	OMIM:301039
HP:0012727	Thoracic aortic aneurysm	833	CARS1	OMIM:618891
HP:0012727	Thoracic aortic aneurysm	7043	TGFB3	OMIM:615582
HP:0012727	Thoracic aortic aneurysm	7043	TGFB3	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	54538	ROBO4	OMIM:618496
HP:0012727	Thoracic aortic aneurysm	25	ABL1	OMIM:617602
HP:0012727	Thoracic aortic aneurysm	4281	MID1	ORPHA:2745
HP:0012727	Thoracic aortic aneurysm	23384	SPECC1L	OMIM:145420
HP:0012727	Thoracic aortic aneurysm	7046	TGFBR1	OMIM:609192
HP:0012727	Thoracic aortic aneurysm	7046	TGFBR1	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4089	SMAD4	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	5592	PRKG1	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	2301	FOXE3	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4144	MAT2A	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	23493	HEY2	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4638	MYLK	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	55901	THSD1	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	7049	TGFBR3	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	2022	ENG	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	OMIM:154700
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	ORPHA:284979
HP:0012727	Thoracic aortic aneurysm	10526	IPO8	OMIM:619472
HP:0012727	Thoracic aortic aneurysm	2332	FMR1	ORPHA:908
HP:0012727	Thoracic aortic aneurysm	4000	LMNA	ORPHA:1662
HP:0012727	Thoracic aortic aneurysm	10269	ZMPSTE24	ORPHA:1662
HP:0012727	Thoracic aortic aneurysm	7048	TGFBR2	OMIM:610168
HP:0012727	Thoracic aortic aneurysm	9968	MED12	OMIM:309520
HP:0012727	Thoracic aortic aneurysm	3593	IL12B	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	3106	HLA-B	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	6945	MLX	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	171019	ADAMTS19	OMIM:620067
HP:0012727	Thoracic aortic aneurysm	4838	NODAL	OMIM:270100
HP:0012727	Thoracic aortic aneurysm	10516	FBLN5	OMIM:219100
HP:0012727	Thoracic aortic aneurysm	2972	BRF1	ORPHA:444072
HP:0012727	Thoracic aortic aneurysm	1281	COL3A1	ORPHA:286
HP:0012727	Thoracic aortic aneurysm	633	BGN	OMIM:300989
HP:0012727	Thoracic aortic aneurysm	2702	GJA5	OMIM:612474
HP:0012727	Thoracic aortic aneurysm	2703	GJA8	OMIM:612474
HP:0012727	Thoracic aortic aneurysm	79875	THSD4	OMIM:619825
HP:0012727	Thoracic aortic aneurysm	523	ATP6V1A	OMIM:617403
HP:0012727	Thoracic aortic aneurysm	7042	TGFB2	OMIM:614816
HP:0012727	Thoracic aortic aneurysm	3756	KCNH1	OMIM:135500
HP:0012727	Thoracic aortic aneurysm	6804	STX1A	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	7461	CLIP2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	84277	DNAJC30	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	8468	FKBP6	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	5982	RFC2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	2969	GTF2I	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	3984	LIMK1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	9569	GTF2IRD1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	155382	VPS37D	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	155368	METTL27	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	114049	BUD23	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	7458	EIF4H	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	84163	GTF2IRD2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	9275	BCL7B	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	26608	TBL2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	653361	NCF1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	135886	TMEM270	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	51085	MLXIPL	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	9031	BAZ1B	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	2006	ELN	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	4851	NOTCH1	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	1482	NKX2-5	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	140628	GATA5	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	4091	SMAD6	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	5590	PRKCZ	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	2563	GABRD	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	23013	SPEN	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	8510	MMP23B	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	7798	LUZP1	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	6497	SKI	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	10630	PDPN	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	3339	HSPG2	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	10277	UBE4B	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	8514	KCNAB2	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	473	RERE	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	63976	PRDM16	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	54897	CASZ1	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	55636	CHD7	ORPHA:138
HP:0012727	Thoracic aortic aneurysm	9723	SEMA3E	ORPHA:138
HP:0012727	Thoracic aortic aneurysm	2316	FLNA	OMIM:304120
HP:0012727	Thoracic aortic aneurysm	126792	B3GALT6	ORPHA:536467
HP:0012727	Thoracic aortic aneurysm	4629	MYH11	OMIM:619351
HP:0012727	Thoracic aortic aneurysm	4629	MYH11	OMIM:132900
HP:0012727	Thoracic aortic aneurysm	4015	LOX	OMIM:617168
HP:0012727	Thoracic aortic aneurysm	8076	MFAP5	OMIM:616166
HP:0012727	Thoracic aortic aneurysm	4088	SMAD3	OMIM:613795
HP:0012727	Thoracic aortic aneurysm	4087	SMAD2	OMIM:619656
HP:0012727	Thoracic aortic aneurysm	4087	SMAD2	OMIM:619657
HP:0012727	Thoracic aortic aneurysm	59	ACTA2	OMIM:613834
HP:0012727	Thoracic aortic aneurysm	59	ACTA2	OMIM:611788
HP:0012722	Heart block	2879	GPX4	ORPHA:93317
HP:0012722	Heart block	189	AGXT	OMIM:259900
HP:0012722	Heart block	788	SLC25A20	OMIM:212138
HP:0012722	Heart block	4313	MMP2	ORPHA:371428
HP:0012722	Heart block	4323	MMP14	ORPHA:371428
HP:0012722	Heart block	6330	SCN4B	OMIM:611819
HP:0012722	Heart block	37	ACADVL	ORPHA:26793
HP:0012722	Heart block	7276	TTR	ORPHA:85447
HP:0012722	Heart block	3762	KCNJ5	OMIM:613485
HP:0012722	Heart block	88	ACTN2	OMIM:612158
HP:0012722	Heart block	3759	KCNJ2	ORPHA:51083
HP:0012722	Heart block	3784	KCNQ1	ORPHA:51083
HP:0012722	Heart block	3757	KCNH2	ORPHA:51083
HP:0012722	Heart block	6508	SLC4A3	ORPHA:51083
HP:0012722	Heart block	7273	TTN	OMIM:604145
HP:0012722	Heart block	7273	TTN	OMIM:611705
HP:0012722	Heart block	79188	TMEM43	ORPHA:98853
HP:0012722	Heart block	23345	SYNE1	ORPHA:98853
HP:0012722	Heart block	23224	SYNE2	ORPHA:98853
HP:0012722	Heart block	2902	GRIN1	OMIM:619814
HP:0012722	Heart block	5593	PRKG2	OMIM:619636
HP:0012722	Heart block	4509	MT-ATP8	ORPHA:480
HP:0012722	Heart block	4567	MT-TL1	ORPHA:480
HP:0012722	Heart block	50484	RRM2B	ORPHA:480
HP:0012722	Heart block	1674	DES	OMIM:601419
HP:0012722	Heart block	50619	DEF6	OMIM:619573
HP:0012722	Heart block	10021	HCN4	OMIM:163800
HP:0012722	Heart block	10021	HCN4	ORPHA:130
HP:0012722	Heart block	23630	KCNE5	ORPHA:130
HP:0012722	Heart block	10371	SEMA3A	ORPHA:130
HP:0012722	Heart block	54795	TRPM4	ORPHA:130
HP:0012722	Heart block	3764	KCNJ8	ORPHA:130
HP:0012722	Heart block	3752	KCND3	ORPHA:130
HP:0012722	Heart block	5318	PKP2	ORPHA:130
HP:0012722	Heart block	7871	SLMAP	ORPHA:130
HP:0012722	Heart block	10060	ABCC9	ORPHA:130
HP:0012722	Heart block	29098	RANGRF	ORPHA:130
HP:0012722	Heart block	6336	SCN10A	ORPHA:130
HP:0012722	Heart block	10008	KCNE3	ORPHA:130
HP:0012722	Heart block	55800	SCN3B	ORPHA:130
HP:0012722	Heart block	10142	AKAP9	ORPHA:130
HP:0012722	Heart block	783	CACNB2	ORPHA:130
HP:0012722	Heart block	6337	SCNN1A	ORPHA:130
HP:0012722	Heart block	6327	SCN2B	ORPHA:130
HP:0012722	Heart block	781	CACNA2D1	ORPHA:130
HP:0012722	Heart block	775	CACNA1C	ORPHA:130
HP:0012722	Heart block	6324	SCN1B	ORPHA:130
HP:0012722	Heart block	6331	SCN5A	ORPHA:130
HP:0012722	Heart block	6331	SCN5A	ORPHA:1344
HP:0012722	Heart block	6331	SCN5A	OMIM:608567
HP:0012722	Heart block	23171	GPD1L	ORPHA:130
HP:0012722	Heart block	10681	GNB5	OMIM:617182
HP:0012722	Heart block	10681	GNB5	OMIM:617173
HP:0012722	Heart block	10681	GNB5	ORPHA:542306
HP:0012722	Heart block	4624	MYH6	OMIM:614090
HP:0012722	Heart block	151648	SGO1	OMIM:616201
HP:0012722	Heart block	4878	NPPA	ORPHA:1344
HP:0012722	Heart block	6262	RYR2	OMIM:604772
HP:0012722	Heart block	845	CASQ2	OMIM:604772
HP:0012722	Heart block	10345	TRDN	OMIM:604772
HP:0012722	Heart block	4000	LMNA	OMIM:181350
HP:0012722	Heart block	4000	LMNA	OMIM:115200
HP:0012722	Heart block	7092	TLL1	ORPHA:99103
HP:0012722	Heart block	7092	TLL1	ORPHA:99106
HP:0012722	Heart block	57057	TBX20	ORPHA:99103
HP:0012722	Heart block	1482	NKX2-5	ORPHA:99103
HP:0012722	Heart block	70	ACTC1	ORPHA:99103
HP:0012722	Heart block	10370	CITED2	ORPHA:99103
HP:0012722	Heart block	10370	CITED2	ORPHA:99105
HP:0012722	Heart block	2626	GATA4	ORPHA:99103
HP:0012722	Heart block	2627	GATA6	ORPHA:99103
HP:0012722	Heart block	2702	GJA5	OMIM:108770
HP:0012722	Heart block	1837	DTNA	OMIM:604169
HP:0012722	Heart block	4635	MYL4	OMIM:617280
HP:0012722	Heart block	1760	DMPK	ORPHA:589821
HP:0012722	Heart block	1760	DMPK	OMIM:160900
HP:0012722	Heart block	6910	TBX5	ORPHA:392
HP:0012722	Heart block	4607	MYBPC3	OMIM:115197
HP:0012722	Heart block	5663	PSEN1	OMIM:613694
HP:0012722	Heart block	3777	KCNK3	OMIM:615344
HP:0012722	Heart block	5664	PSEN2	OMIM:613697
HP:0012722	Heart block	84665	MYPN	OMIM:617336
HP:0012722	Heart block	29119	CTNNA3	OMIM:615616
HP:0012722	Heart block	2010	EMD	OMIM:310300
HP:0012722	Heart block	83475	DOHH	OMIM:620066
HP:0012722	Heart block	11149	BVES	OMIM:616812
HP:0012722	Heart block	7716	VEZF1	OMIM:620247
HP:0012722	Heart block	23395	LARS2	OMIM:617021
HP:0012722	Heart block	3920	LAMP2	OMIM:300257
HP:0012722	Heart block	776	CACNA1D	ORPHA:369929
HP:0012722	Heart block	776	CACNA1D	OMIM:615474
HP:0012722	Heart block	8318	CDC45	OMIM:617063
HP:0012722	Heart block	100134444	KCNJ18	ORPHA:79102
HP:0012722	Heart block	2556	GABRA3	ORPHA:79102
HP:0012722	Heart block	779	CACNA1S	ORPHA:79102
HP:0012722	Heart block	808	CALM3	OMIM:618782
HP:0012722	Heart block	2239	GPC4	ORPHA:373
HP:0012722	Heart block	2719	GPC3	ORPHA:373
HP:0012722	Heart block	5781	PTPN11	OMIM:151100
HP:0012722	Heart block	5781	PTPN11	ORPHA:500
HP:0012722	Heart block	2717	GLA	ORPHA:324
HP:0012722	Heart block	673	BRAF	ORPHA:500
HP:0012722	Heart block	5894	RAF1	ORPHA:500
HP:0012722	Heart block	51086	TNNI3K	OMIM:616117
HP:0012722	Heart block	7134	TNNC1	OMIM:613243
HP:0012722	Heart block	4625	MYH7	ORPHA:437572
HP:0012722	Heart block	2318	FLNC	OMIM:617047
HP:0012722	Heart block	4519	MT-CYB	ORPHA:137675
HP:0012722	Heart block	7139	TNNT2	OMIM:115195
HP:0012722	Heart block	5339	PLEC	ORPHA:254361
HP:0012722	Heart block	8291	DYSF	ORPHA:268
HP:0012722	Heart block	128869	PIGU	OMIM:618590
HP:0012722	Heart block	7555	CNBP	OMIM:602668
HP:0012722	Heart block	3728	JUP	OMIM:601214
HP:0012722	Heart block	221496	LEMD2	OMIM:619322
HP:0012722	Heart block	1829	DSG2	OMIM:610193
HP:0012722	Heart block	5500	PPP1CB	OMIM:617506
HP:0012722	Heart block	2992	GYG1	OMIM:613507
HP:0012722	Heart block	2992	GYG1	ORPHA:263297
HP:0012722	Heart block	2273	FHL1	OMIM:300695
HP:0012722	Heart block	56915	EXOSC5	OMIM:619576
HP:0012722	Heart block	442721	LMOD2	OMIM:619897
HP:0012722	Heart block	29954	POMT2	OMIM:613158
HP:0012722	Heart block	29954	POMT2	ORPHA:206559
HP:0012722	Heart block	8815	BANF1	OMIM:614008
HP:0012722	Heart block	2771	GNAI2	OMIM:192605
HP:0012722	Heart block	246243	RNASEH1	OMIM:616479
HP:0012722	Heart block	523	ATP6V1A	OMIM:617403
HP:0012722	Heart block	529	ATP6V1E1	OMIM:617402
HP:0012722	Heart block	4633	MYL2	OMIM:608758
HP:0012722	Heart block	51422	PRKAG2	OMIM:600858
HP:0012722	Heart block	11232	POLG2	OMIM:610131
HP:0012722	Heart block	1000	CDH2	OMIM:618920
HP:0012722	Heart block	11155	LDB3	OMIM:601493
HP:0012722	Heart block	51778	MYOZ2	OMIM:613838
HP:0012722	Heart block	5264	PHYH	ORPHA:773
HP:0012722	Heart block	5191	PEX7	ORPHA:773
HP:0012722	Heart block	6023	RMRP	ORPHA:175
HP:0012722	Heart block	4035	LRP1	ORPHA:79100
HP:0012722	Heart block	56244	BTNL2	ORPHA:797
HP:0012722	Heart block	3123	HLA-DRB1	ORPHA:797
HP:0012722	Heart block	1376	CPT2	ORPHA:228308
HP:0012722	Heart block	2783	GNB2	OMIM:619464
HP:0012722	Heart block	805	CALM2	OMIM:616249
HP:0012722	Heart block	801	CALM1	OMIM:616247
HP:0002512	Brain stem compression	22943	DKK1	ORPHA:268882
HP:0002512	Brain stem compression	80199	FUZ	ORPHA:1136
HP:0002512	Brain stem compression	2261	FGFR3	OMIM:100800
HP:0002512	Brain stem compression	8792	TNFRSF11A	OMIM:602080
HP:0002512	Brain stem compression	8314	BAP1	ORPHA:2495
HP:0002512	Brain stem compression	4771	NF2	ORPHA:2495
HP:0002512	Brain stem compression	4771	NF2	ORPHA:637
HP:0002512	Brain stem compression	6598	SMARCB1	ORPHA:2495
HP:0002512	Brain stem compression	5155	PDGFB	ORPHA:2495
HP:0002512	Brain stem compression	84231	TRAF7	ORPHA:2495
HP:0002512	Brain stem compression	6608	SMO	ORPHA:2495
HP:0002512	Brain stem compression	207	AKT1	ORPHA:2495
HP:0002512	Brain stem compression	5290	PIK3CA	ORPHA:2495
HP:0002512	Brain stem compression	7015	TERT	ORPHA:2495
HP:0002512	Brain stem compression	51684	SUFU	ORPHA:2495
HP:0002512	Brain stem compression	6605	SMARCE1	ORPHA:2495
HP:0001251	Ataxia	26191	PTPN22	ORPHA:397
HP:0001251	Ataxia	3106	HLA-B	ORPHA:397
HP:0001251	Ataxia	3106	HLA-B	ORPHA:117
HP:0001251	Ataxia	3123	HLA-DRB1	ORPHA:397
HP:0001251	Ataxia	8974	P4HA2	ORPHA:397
HP:0001251	Ataxia	4524	MTHFR	ORPHA:395
HP:0001251	Ataxia	26235	FBXL4	OMIM:615471
HP:0001251	Ataxia	340533	NEXMIF	OMIM:300912
HP:0001251	Ataxia	340533	NEXMIF	ORPHA:1942
HP:0001251	Ataxia	54101	RIPK4	ORPHA:1401
HP:0001251	Ataxia	5238	PGM3	ORPHA:443811
HP:0001251	Ataxia	5238	PGM3	OMIM:615816
HP:0001251	Ataxia	4897	NRCAM	OMIM:619833
HP:0001251	Ataxia	84334	COA8	ORPHA:436271
HP:0001251	Ataxia	84334	COA8	OMIM:619061
HP:0001251	Ataxia	1786	DNMT1	ORPHA:314404
HP:0001251	Ataxia	1786	DNMT1	OMIM:614116
HP:0001251	Ataxia	1786	DNMT1	OMIM:604121
HP:0001251	Ataxia	51099	ABHD5	OMIM:275630
HP:0001251	Ataxia	51099	ABHD5	ORPHA:98907
HP:0001251	Ataxia	5631	PRPS1	ORPHA:99014
HP:0001251	Ataxia	5631	PRPS1	OMIM:301835
HP:0001251	Ataxia	5631	PRPS1	ORPHA:411543
HP:0001251	Ataxia	5631	PRPS1	ORPHA:1187
HP:0001251	Ataxia	5631	PRPS1	OMIM:300661
HP:0001251	Ataxia	2593	GAMT	ORPHA:382
HP:0001251	Ataxia	2593	GAMT	OMIM:612736
HP:0001251	Ataxia	6616	SNAP25	OMIM:616330
HP:0001251	Ataxia	6616	SNAP25	ORPHA:98914
HP:0001251	Ataxia	23322	RPGRIP1L	ORPHA:220497
HP:0001251	Ataxia	23322	RPGRIP1L	ORPHA:1454
HP:0001251	Ataxia	23322	RPGRIP1L	OMIM:619113
HP:0001251	Ataxia	23322	RPGRIP1L	OMIM:611560
HP:0001251	Ataxia	4867	NPHP1	ORPHA:220497
HP:0001251	Ataxia	4867	NPHP1	ORPHA:3156
HP:0001251	Ataxia	4867	NPHP1	OMIM:609583
HP:0001251	Ataxia	65062	TMEM237	ORPHA:220497
HP:0001251	Ataxia	65062	TMEM237	ORPHA:2318
HP:0001251	Ataxia	65062	TMEM237	ORPHA:475
HP:0001251	Ataxia	65062	TMEM237	OMIM:614424
HP:0001251	Ataxia	27245	AHDC1	ORPHA:412069
HP:0001251	Ataxia	7532	YWHAG	OMIM:617665
HP:0001251	Ataxia	7532	YWHAG	ORPHA:442835
HP:0001251	Ataxia	54806	AHI1	ORPHA:220493
HP:0001251	Ataxia	54806	AHI1	ORPHA:475
HP:0001251	Ataxia	54806	AHI1	OMIM:608629
HP:0001251	Ataxia	56623	INPP5E	ORPHA:220493
HP:0001251	Ataxia	56623	INPP5E	OMIM:213300
HP:0001251	Ataxia	56623	INPP5E	ORPHA:1454
HP:0001251	Ataxia	56623	INPP5E	ORPHA:475
HP:0001251	Ataxia	54903	MKS1	ORPHA:220493
HP:0001251	Ataxia	54903	MKS1	ORPHA:475
HP:0001251	Ataxia	54903	MKS1	OMIM:617121
HP:0001251	Ataxia	95681	CEP41	ORPHA:220493
HP:0001251	Ataxia	95681	CEP41	ORPHA:475
HP:0001251	Ataxia	95681	CEP41	OMIM:614464
HP:0001251	Ataxia	1161	ERCC8	OMIM:216400
HP:0001251	Ataxia	1161	ERCC8	ORPHA:90321
HP:0001251	Ataxia	1161	ERCC8	ORPHA:90322
HP:0001251	Ataxia	100996717	NOTCH2NLC	OMIM:603472
HP:0001251	Ataxia	100996717	NOTCH2NLC	OMIM:619473
HP:0001251	Ataxia	100996717	NOTCH2NLC	OMIM:618866
HP:0001251	Ataxia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001251	Ataxia	10111	RAD50	OMIM:613078
HP:0001251	Ataxia	84100	ARL6	OMIM:209900
HP:0001251	Ataxia	79140	CCDC28B	OMIM:209900
HP:0001251	Ataxia	582	BBS1	OMIM:209900
HP:0001251	Ataxia	2697	GJA1	ORPHA:2710
HP:0001251	Ataxia	2697	GJA1	OMIM:164200
HP:0001251	Ataxia	1130	LYST	ORPHA:167
HP:0001251	Ataxia	1130	LYST	OMIM:214500
HP:0001251	Ataxia	4558	MT-TF	OMIM:545000
HP:0001251	Ataxia	4558	MT-TF	ORPHA:551
HP:0001251	Ataxia	4558	MT-TF	ORPHA:550
HP:0001251	Ataxia	4571	MT-TP	OMIM:545000
HP:0001251	Ataxia	4571	MT-TP	ORPHA:551
HP:0001251	Ataxia	4565	MT-TI	OMIM:545000
HP:0001251	Ataxia	57231	SNX14	OMIM:616354
HP:0001251	Ataxia	57231	SNX14	ORPHA:397709
HP:0001251	Ataxia	23327	NEDD4L	OMIM:617201
HP:0001251	Ataxia	5073	PARN	OMIM:616353
HP:0001251	Ataxia	5073	PARN	ORPHA:3322
HP:0001251	Ataxia	5813	PURA	ORPHA:438216
HP:0001251	Ataxia	3340	NDST1	OMIM:616116
HP:0001251	Ataxia	9131	AIFM1	ORPHA:101078
HP:0001251	Ataxia	9131	AIFM1	OMIM:300232
HP:0001251	Ataxia	3737	KCNA2	OMIM:616366
HP:0001251	Ataxia	3737	KCNA2	ORPHA:442835
HP:0001251	Ataxia	55773	TBC1D23	OMIM:617695
HP:0001251	Ataxia	3098	HK1	OMIM:618547
HP:0001251	Ataxia	4720	NDUFS2	ORPHA:104
HP:0001251	Ataxia	4720	NDUFS2	ORPHA:2609
HP:0001251	Ataxia	4720	NDUFS2	OMIM:618228
HP:0001251	Ataxia	4720	NDUFS2	ORPHA:70474
HP:0001251	Ataxia	4512	MT-CO1	ORPHA:104
HP:0001251	Ataxia	4512	MT-CO1	ORPHA:550
HP:0001251	Ataxia	4514	MT-CO3	ORPHA:104
HP:0001251	Ataxia	4514	MT-CO3	OMIM:535000
HP:0001251	Ataxia	4514	MT-CO3	ORPHA:550
HP:0001251	Ataxia	4519	MT-CYB	ORPHA:104
HP:0001251	Ataxia	4519	MT-CYB	OMIM:535000
HP:0001251	Ataxia	4539	MT-ND4L	ORPHA:104
HP:0001251	Ataxia	4539	MT-ND4L	OMIM:535000
HP:0001251	Ataxia	4598	MVK	ORPHA:343
HP:0001251	Ataxia	4598	MVK	ORPHA:29
HP:0001251	Ataxia	4598	MVK	OMIM:610377
HP:0001251	Ataxia	472	ATM	ORPHA:100
HP:0001251	Ataxia	472	ATM	OMIM:208900
HP:0001251	Ataxia	3766	KCNJ10	ORPHA:199343
HP:0001251	Ataxia	3766	KCNJ10	OMIM:612780
HP:0001251	Ataxia	3766	KCNJ10	ORPHA:705
HP:0001251	Ataxia	4644	MYO5A	ORPHA:33445
HP:0001251	Ataxia	4644	MYO5A	ORPHA:79476
HP:0001251	Ataxia	1615	DARS1	OMIM:615281
HP:0001251	Ataxia	3773	KCNJ16	OMIM:619406
HP:0001251	Ataxia	79633	FAT4	ORPHA:314679
HP:0001251	Ataxia	8642	DCHS1	ORPHA:314679
HP:0001251	Ataxia	57192	MCOLN1	ORPHA:578
HP:0001251	Ataxia	51567	TDP2	ORPHA:404493
HP:0001251	Ataxia	51567	TDP2	OMIM:616949
HP:0001251	Ataxia	38	ACAT1	ORPHA:134
HP:0001251	Ataxia	57679	ALS2	OMIM:205100
HP:0001251	Ataxia	57679	ALS2	ORPHA:300605
HP:0001251	Ataxia	4615	MYD88	ORPHA:33226
HP:0001251	Ataxia	2629	GBA1	ORPHA:77261
HP:0001251	Ataxia	2629	GBA1	OMIM:231000
HP:0001251	Ataxia	10533	ATG7	OMIM:619422
HP:0001251	Ataxia	1917	EEF1A2	OMIM:616393
HP:0001251	Ataxia	1917	EEF1A2	ORPHA:442835
HP:0001251	Ataxia	9742	IFT140	OMIM:266920
HP:0001251	Ataxia	5728	PTEN	ORPHA:65285
HP:0001251	Ataxia	5728	PTEN	ORPHA:201
HP:0001251	Ataxia	165918	RNF168	OMIM:611943
HP:0001251	Ataxia	165918	RNF168	ORPHA:420741
HP:0001251	Ataxia	149233	IL23R	ORPHA:117
HP:0001251	Ataxia	6775	STAT4	ORPHA:117
HP:0001251	Ataxia	3586	IL10	ORPHA:117
HP:0001251	Ataxia	4210	MEFV	ORPHA:117
HP:0001251	Ataxia	1230	CCR1	ORPHA:117
HP:0001251	Ataxia	355	FAS	ORPHA:117
HP:0001251	Ataxia	3592	IL12A	ORPHA:117
HP:0001251	Ataxia	101928376	IL12A-AS1	ORPHA:117
HP:0001251	Ataxia	7099	TLR4	ORPHA:117
HP:0001251	Ataxia	3459	IFNGR1	ORPHA:117
HP:0001251	Ataxia	720	C4A	ORPHA:117
HP:0001251	Ataxia	337867	UBAC2	ORPHA:117
HP:0001251	Ataxia	51752	ERAP1	ORPHA:117
HP:0001251	Ataxia	8302	KLRC4	ORPHA:117
HP:0001251	Ataxia	435	ASL	ORPHA:23
HP:0001251	Ataxia	435	ASL	OMIM:207900
HP:0001251	Ataxia	4549	MT-RNR1	ORPHA:551
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:551
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:550
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:231183
HP:0001251	Ataxia	4572	MT-TQ	ORPHA:551
HP:0001251	Ataxia	4572	MT-TQ	ORPHA:550
HP:0001251	Ataxia	4564	MT-TH	ORPHA:551
HP:0001251	Ataxia	4564	MT-TH	ORPHA:550
HP:0001251	Ataxia	2639	GCDH	ORPHA:25
HP:0001251	Ataxia	2074	ERCC6	OMIM:133540
HP:0001251	Ataxia	2074	ERCC6	ORPHA:90321
HP:0001251	Ataxia	2074	ERCC6	ORPHA:90322
HP:0001251	Ataxia	2074	ERCC6	OMIM:278800
HP:0001251	Ataxia	3155	HMGCL	ORPHA:20
HP:0001251	Ataxia	4513	MT-CO2	ORPHA:550
HP:0001251	Ataxia	7915	ALDH5A1	ORPHA:22
HP:0001251	Ataxia	7915	ALDH5A1	OMIM:271980
HP:0001251	Ataxia	56896	DPYSL5	OMIM:619435
HP:0001251	Ataxia	1859	DYRK1A	ORPHA:268261
HP:0001251	Ataxia	1859	DYRK1A	OMIM:614104
HP:0001251	Ataxia	123606	NIPA1	ORPHA:261183
HP:0001251	Ataxia	7283	TUBG1	ORPHA:261183
HP:0001251	Ataxia	81614	NIPA2	ORPHA:261183
HP:0001251	Ataxia	51259	TMEM216	OMIM:608091
HP:0001251	Ataxia	51259	TMEM216	ORPHA:2318
HP:0001251	Ataxia	51259	TMEM216	ORPHA:2754
HP:0001251	Ataxia	9526	MPDU1	OMIM:609180
HP:0001251	Ataxia	1476	CSTB	ORPHA:308
HP:0001251	Ataxia	1476	CSTB	OMIM:254800
HP:0001251	Ataxia	7084	TK2	ORPHA:254886
HP:0001251	Ataxia	6567	SLC16A2	OMIM:300523
HP:0001251	Ataxia	6567	SLC16A2	ORPHA:59
HP:0001251	Ataxia	64801	ARV1	OMIM:617020
HP:0001251	Ataxia	64801	ARV1	ORPHA:442835
HP:0001251	Ataxia	6647	SOD1	OMIM:618598
HP:0001251	Ataxia	55182	RNF220	OMIM:619688
HP:0001251	Ataxia	3767	KCNJ11	ORPHA:99885
HP:0001251	Ataxia	6774	STAT3	ORPHA:99885
HP:0001251	Ataxia	2645	GCK	ORPHA:99885
HP:0001251	Ataxia	3651	PDX1	ORPHA:99885
HP:0001251	Ataxia	6833	ABCC8	ORPHA:99885
HP:0001251	Ataxia	6833	ABCC8	OMIM:240800
HP:0001251	Ataxia	3630	INS	ORPHA:99885
HP:0001251	Ataxia	7337	UBE3A	ORPHA:98794
HP:0001251	Ataxia	7337	UBE3A	ORPHA:411511
HP:0001251	Ataxia	7337	UBE3A	ORPHA:411515
HP:0001251	Ataxia	7337	UBE3A	OMIM:105830
HP:0001251	Ataxia	7337	UBE3A	ORPHA:238446
HP:0001251	Ataxia	4948	OCA2	ORPHA:98794
HP:0001251	Ataxia	55777	MBD5	OMIM:156200
HP:0001251	Ataxia	55777	MBD5	ORPHA:228402
HP:0001251	Ataxia	347733	TUBB2B	ORPHA:467166
HP:0001251	Ataxia	347733	TUBB2B	ORPHA:1766
HP:0001251	Ataxia	7846	TUBA1A	ORPHA:467166
HP:0001251	Ataxia	7846	TUBA1A	OMIM:611603
HP:0001251	Ataxia	8888	MCM3AP	OMIM:618124
HP:0001251	Ataxia	4141	MARS1	OMIM:619692
HP:0001251	Ataxia	3746	KCNC1	OMIM:616187
HP:0001251	Ataxia	1201	CLN3	ORPHA:228346
HP:0001251	Ataxia	549	AUH	OMIM:250950
HP:0001251	Ataxia	6821	SUOX	OMIM:272300
HP:0001251	Ataxia	2632	GBE1	ORPHA:206583
HP:0001251	Ataxia	5805	PTS	ORPHA:13
HP:0001251	Ataxia	5805	PTS	OMIM:261640
HP:0001251	Ataxia	51102	MECR	OMIM:617282
HP:0001251	Ataxia	51102	MECR	ORPHA:508093
HP:0001251	Ataxia	2743	GLRB	ORPHA:3197
HP:0001251	Ataxia	2741	GLRA1	ORPHA:3197
HP:0001251	Ataxia	10243	GPHN	ORPHA:3197
HP:0001251	Ataxia	84896	ATAD1	ORPHA:3197
HP:0001251	Ataxia	9152	SLC6A5	ORPHA:3197
HP:0001251	Ataxia	6390	SDHB	OMIM:619224
HP:0001251	Ataxia	6390	SDHB	ORPHA:3208
HP:0001251	Ataxia	6390	SDHB	ORPHA:201
HP:0001251	Ataxia	55630	SLC39A4	OMIM:201100
HP:0001251	Ataxia	9758	FRMPD4	OMIM:300983
HP:0001251	Ataxia	3188	HNRNPH2	OMIM:300986
HP:0001251	Ataxia	6304	SATB1	OMIM:619228
HP:0001251	Ataxia	6304	SATB1	OMIM:619229
HP:0001251	Ataxia	51763	INPP5K	ORPHA:559
HP:0001251	Ataxia	220296	HEPACAM	OMIM:613925
HP:0001251	Ataxia	220296	HEPACAM	OMIM:604004
HP:0001251	Ataxia	27107	ZBTB11	OMIM:618383
HP:0001251	Ataxia	94005	PIGS	OMIM:618143
HP:0001251	Ataxia	6711	SPTBN1	OMIM:619475
HP:0001251	Ataxia	378884	NHLRC1	ORPHA:501
HP:0001251	Ataxia	7957	EPM2A	ORPHA:501
HP:0001251	Ataxia	1457	CSNK2A1	OMIM:617062
HP:0001251	Ataxia	6872	TAF1	OMIM:300966
HP:0001251	Ataxia	4841	NONO	OMIM:300967
HP:0001251	Ataxia	4841	NONO	ORPHA:466791
HP:0001251	Ataxia	5625	PRODH	OMIM:239500
HP:0001251	Ataxia	6663	SOX10	OMIM:609136
HP:0001251	Ataxia	6663	SOX10	ORPHA:163746
HP:0001251	Ataxia	6663	SOX10	ORPHA:478
HP:0001251	Ataxia	55670	PEX26	ORPHA:772
HP:0001251	Ataxia	5824	PEX19	ORPHA:772
HP:0001251	Ataxia	8504	PEX3	ORPHA:772
HP:0001251	Ataxia	8799	PEX11B	ORPHA:772
HP:0001251	Ataxia	5830	PEX5	ORPHA:772
HP:0001251	Ataxia	5189	PEX1	ORPHA:772
HP:0001251	Ataxia	5193	PEX12	ORPHA:772
HP:0001251	Ataxia	5193	PEX12	OMIM:266510
HP:0001251	Ataxia	5194	PEX13	ORPHA:772
HP:0001251	Ataxia	5195	PEX14	ORPHA:772
HP:0001251	Ataxia	403	ARL3	OMIM:618161
HP:0001251	Ataxia	403	ARL3	ORPHA:475
HP:0001251	Ataxia	5264	PHYH	ORPHA:773
HP:0001251	Ataxia	5264	PHYH	OMIM:266500
HP:0001251	Ataxia	5191	PEX7	ORPHA:773
HP:0001251	Ataxia	5191	PEX7	OMIM:614879
HP:0001251	Ataxia	5191	PEX7	OMIM:266500
HP:0001251	Ataxia	3090	HIC1	ORPHA:531
HP:0001251	Ataxia	5048	PAFAH1B1	ORPHA:531
HP:0001251	Ataxia	7531	YWHAE	ORPHA:531
HP:0001251	Ataxia	727676	SNORD118	ORPHA:542310
HP:0001251	Ataxia	727676	SNORD118	OMIM:614561
HP:0001251	Ataxia	54187	NANS	OMIM:610442
HP:0001251	Ataxia	203190	LGI3	OMIM:620007
HP:0001251	Ataxia	91147	TMEM67	OMIM:610688
HP:0001251	Ataxia	91147	TMEM67	OMIM:216360
HP:0001251	Ataxia	91147	TMEM67	ORPHA:1454
HP:0001251	Ataxia	91147	TMEM67	ORPHA:475
HP:0001251	Ataxia	4860	PNP	ORPHA:760
HP:0001251	Ataxia	4860	PNP	OMIM:613179
HP:0001251	Ataxia	64802	NMNAT1	OMIM:619260
HP:0001251	Ataxia	1496	CTNNA2	OMIM:618174
HP:0001251	Ataxia	6559	SLC12A3	OMIM:263800
HP:0001251	Ataxia	1373	CPS1	OMIM:237300
HP:0001251	Ataxia	284111	SLC13A5	OMIM:615905
HP:0001251	Ataxia	284111	SLC13A5	ORPHA:442835
HP:0001251	Ataxia	26146	TRAF3IP1	ORPHA:3156
HP:0001251	Ataxia	9657	IQCB1	ORPHA:3156
HP:0001251	Ataxia	10806	SDCCAG8	ORPHA:3156
HP:0001251	Ataxia	27130	INVS	ORPHA:3156
HP:0001251	Ataxia	80184	CEP290	ORPHA:3156
HP:0001251	Ataxia	80184	CEP290	OMIM:610188
HP:0001251	Ataxia	80184	CEP290	ORPHA:2318
HP:0001251	Ataxia	261734	NPHP4	ORPHA:3156
HP:0001251	Ataxia	57728	WDR19	ORPHA:3156
HP:0001251	Ataxia	27031	NPHP3	ORPHA:3156
HP:0001251	Ataxia	22897	CEP164	ORPHA:3156
HP:0001251	Ataxia	55294	FBXW7	OMIM:620012
HP:0001251	Ataxia	6095	RORA	OMIM:618060
HP:0001251	Ataxia	5138	PDE2A	OMIM:619150
HP:0001251	Ataxia	1593	CYP27A1	OMIM:213700
HP:0001251	Ataxia	1593	CYP27A1	ORPHA:909
HP:0001251	Ataxia	324	APC	ORPHA:99818
HP:0001251	Ataxia	123263	MTFMT	OMIM:614947
HP:0001251	Ataxia	123263	MTFMT	OMIM:618248
HP:0001251	Ataxia	2896	GRN	OMIM:614706
HP:0001251	Ataxia	55775	TDP1	ORPHA:94124
HP:0001251	Ataxia	55775	TDP1	OMIM:607250
HP:0001251	Ataxia	79581	SLC52A2	OMIM:614707
HP:0001251	Ataxia	2038	EPB42	ORPHA:822
HP:0001251	Ataxia	6521	SLC4A1	ORPHA:822
HP:0001251	Ataxia	6710	SPTB	ORPHA:822
HP:0001251	Ataxia	6708	SPTA1	ORPHA:822
HP:0001251	Ataxia	286	ANK1	ORPHA:822
HP:0001251	Ataxia	6535	SLC6A8	ORPHA:52503
HP:0001251	Ataxia	51506	UFC1	OMIM:618076
HP:0001251	Ataxia	6392	SDHD	OMIM:619167
HP:0001251	Ataxia	6392	SDHD	ORPHA:3208
HP:0001251	Ataxia	6392	SDHD	ORPHA:201
HP:0001251	Ataxia	9640	ZNF592	ORPHA:83472
HP:0001251	Ataxia	84942	WDR73	ORPHA:83472
HP:0001251	Ataxia	84942	WDR73	OMIM:251300
HP:0001251	Ataxia	54476	RNF216	OMIM:212840
HP:0001251	Ataxia	54476	RNF216	ORPHA:1173
HP:0001251	Ataxia	4884	NPTX1	OMIM:620158
HP:0001251	Ataxia	25839	COG4	ORPHA:263501
HP:0001251	Ataxia	25839	COG4	OMIM:613489
HP:0001251	Ataxia	84992	PIGY	ORPHA:247262
HP:0001251	Ataxia	84720	PIGO	ORPHA:247262
HP:0001251	Ataxia	93210	PGAP3	ORPHA:247262
HP:0001251	Ataxia	284098	PIGW	ORPHA:247262
HP:0001251	Ataxia	27315	PGAP2	ORPHA:247262
HP:0001251	Ataxia	55650	PIGV	ORPHA:247262
HP:0001251	Ataxia	1738	DLD	ORPHA:2394
HP:0001251	Ataxia	1738	DLD	OMIM:246900
HP:0001251	Ataxia	1716	DGUOK	ORPHA:329314
HP:0001251	Ataxia	5080	PAX6	ORPHA:1065
HP:0001251	Ataxia	114034	TOE1	OMIM:614969
HP:0001251	Ataxia	1509	CTSD	OMIM:610127
HP:0001251	Ataxia	29967	LRP12	OMIM:164310
HP:0001251	Ataxia	9570	GOSR2	OMIM:620166
HP:0001251	Ataxia	9570	GOSR2	OMIM:614018
HP:0001251	Ataxia	57531	HACE1	ORPHA:464282
HP:0001251	Ataxia	57531	HACE1	OMIM:616756
HP:0001251	Ataxia	10367	MICU1	ORPHA:401768
HP:0001251	Ataxia	10367	MICU1	OMIM:615673
HP:0001251	Ataxia	9445	ITM2B	OMIM:117300
HP:0001251	Ataxia	84342	COG8	ORPHA:95428
HP:0001251	Ataxia	84342	COG8	OMIM:611182
HP:0001251	Ataxia	113235	SLC46A1	OMIM:229050
HP:0001251	Ataxia	3735	KARS1	OMIM:619196
HP:0001251	Ataxia	1798	DPAGT1	ORPHA:86309
HP:0001251	Ataxia	7840	ALMS1	ORPHA:64
HP:0001251	Ataxia	2512	FTL	OMIM:606159
HP:0001251	Ataxia	1629	DBT	OMIM:248600
HP:0001251	Ataxia	593	BCKDHA	OMIM:248600
HP:0001251	Ataxia	594	BCKDHB	OMIM:248600
HP:0001251	Ataxia	90624	LYRM7	OMIM:615838
HP:0001251	Ataxia	493856	CISD2	ORPHA:3463
HP:0001251	Ataxia	7466	WFS1	ORPHA:3463
HP:0001251	Ataxia	7466	WFS1	OMIM:222300
HP:0001251	Ataxia	80025	PANK2	OMIM:234200
HP:0001251	Ataxia	25894	PLEKHG4	ORPHA:98765
HP:0001251	Ataxia	23503	ZFYVE26	OMIM:270700
HP:0001251	Ataxia	283209	PGM2L1	OMIM:620191
HP:0001251	Ataxia	1737	DLAT	OMIM:245348
HP:0001251	Ataxia	8050	PDHX	OMIM:245349
HP:0001251	Ataxia	2934	GSN	ORPHA:85448
HP:0001251	Ataxia	1910	EDNRB	OMIM:277580
HP:0001251	Ataxia	3662	IRF4	ORPHA:3452
HP:0001251	Ataxia	55343	SLC35C1	ORPHA:99843
HP:0001251	Ataxia	34	ACADM	ORPHA:42
HP:0001251	Ataxia	8813	DPM1	OMIM:608799
HP:0001251	Ataxia	8813	DPM1	ORPHA:79322
HP:0001251	Ataxia	57393	CLTRN	ORPHA:2116
HP:0001251	Ataxia	644096	SDHAF1	ORPHA:3208
HP:0001251	Ataxia	445	ASS1	OMIM:215700
HP:0001251	Ataxia	5663	PSEN1	ORPHA:1020
HP:0001251	Ataxia	5664	PSEN2	ORPHA:1020
HP:0001251	Ataxia	10452	TOMM40	ORPHA:1020
HP:0001251	Ataxia	351	APP	ORPHA:1020
HP:0001251	Ataxia	54209	TREM2	ORPHA:1020
HP:0001251	Ataxia	10347	ABCA7	ORPHA:1020
HP:0001251	Ataxia	6653	SORL1	ORPHA:1020
HP:0001251	Ataxia	10815	CPLX1	ORPHA:352582
HP:0001251	Ataxia	10815	CPLX1	ORPHA:280
HP:0001251	Ataxia	80331	DNAJC5	OMIM:162350
HP:0001251	Ataxia	22907	DHX30	OMIM:617804
HP:0001251	Ataxia	51308	REEP2	OMIM:615625
HP:0001251	Ataxia	9894	TELO2	OMIM:616954
HP:0001251	Ataxia	9894	TELO2	ORPHA:488642
HP:0001251	Ataxia	3798	KIF5A	OMIM:604187
HP:0001251	Ataxia	6323	SCN1A	OMIM:607208
HP:0001251	Ataxia	6323	SCN1A	ORPHA:1942
HP:0001251	Ataxia	6323	SCN1A	OMIM:619317
HP:0001251	Ataxia	6323	SCN1A	ORPHA:36387
HP:0001251	Ataxia	348980	HCN1	OMIM:615871
HP:0001251	Ataxia	348980	HCN1	ORPHA:442835
HP:0001251	Ataxia	348980	HCN1	ORPHA:36387
HP:0001251	Ataxia	79848	CSPP1	OMIM:615636
HP:0001251	Ataxia	79848	CSPP1	ORPHA:475
HP:0001251	Ataxia	6948	TCN2	OMIM:275350
HP:0001251	Ataxia	23600	AMACR	OMIM:614307
HP:0001251	Ataxia	23600	AMACR	ORPHA:79095
HP:0001251	Ataxia	6261	RYR1	ORPHA:466650
HP:0001251	Ataxia	1776	DNASE1L3	ORPHA:36412
HP:0001251	Ataxia	84816	RTN4IP1	OMIM:616732
HP:0001251	Ataxia	998	CDC42	OMIM:616737
HP:0001251	Ataxia	57505	AARS2	OMIM:615889
HP:0001251	Ataxia	50	ACO2	OMIM:614559
HP:0001251	Ataxia	3097	HIVEP2	OMIM:616977
HP:0001251	Ataxia	3897	L1CAM	ORPHA:306617
HP:0001251	Ataxia	767	CA8	OMIM:613227
HP:0001251	Ataxia	767	CA8	ORPHA:1766
HP:0001251	Ataxia	26277	TINF2	OMIM:127550
HP:0001251	Ataxia	26277	TINF2	OMIM:268130
HP:0001251	Ataxia	26277	TINF2	OMIM:613990
HP:0001251	Ataxia	26277	TINF2	ORPHA:3322
HP:0001251	Ataxia	7012	TERC	OMIM:127550
HP:0001251	Ataxia	7015	TERT	OMIM:127550
HP:0001251	Ataxia	7015	TERT	ORPHA:2495
HP:0001251	Ataxia	7015	TERT	ORPHA:3322
HP:0001251	Ataxia	2561	GABRB2	OMIM:617829
HP:0001251	Ataxia	2561	GABRB2	ORPHA:442835
HP:0001251	Ataxia	4694	NDUFA1	OMIM:301020
HP:0001251	Ataxia	4694	NDUFA1	ORPHA:2609
HP:0001251	Ataxia	2821	GPI	OMIM:613470
HP:0001251	Ataxia	10560	SLC19A2	OMIM:249270
HP:0001251	Ataxia	4358	MPV17	OMIM:256810
HP:0001251	Ataxia	79947	DHDDS	OMIM:617836
HP:0001251	Ataxia	79947	DHDDS	ORPHA:442835
HP:0001251	Ataxia	79583	TMEM231	ORPHA:2318
HP:0001251	Ataxia	51524	TMEM138	ORPHA:2318
HP:0001251	Ataxia	23090	ZNF423	ORPHA:2318
HP:0001251	Ataxia	57545	CC2D2A	ORPHA:2318
HP:0001251	Ataxia	57545	CC2D2A	ORPHA:1454
HP:0001251	Ataxia	1213	CLTC	OMIM:617854
HP:0001251	Ataxia	1213	CLTC	ORPHA:442835
HP:0001251	Ataxia	28514	DLL1	OMIM:618709
HP:0001251	Ataxia	80781	COL18A1	OMIM:267750
HP:0001251	Ataxia	56910	STARD7	OMIM:607876
HP:0001251	Ataxia	26503	SLC17A5	OMIM:604369
HP:0001251	Ataxia	6182	MRPL12	OMIM:618951
HP:0001251	Ataxia	57688	ZSWIM6	OMIM:617865
HP:0001251	Ataxia	51816	ADA2	OMIM:615688
HP:0001251	Ataxia	60482	SLC5A7	ORPHA:98914
HP:0001251	Ataxia	4649	MYO9A	ORPHA:98914
HP:0001251	Ataxia	1305	COL13A1	ORPHA:98914
HP:0001251	Ataxia	1103	CHAT	ORPHA:98914
HP:0001251	Ataxia	6576	SLC25A1	ORPHA:98914
HP:0001251	Ataxia	375790	AGRN	ORPHA:98914
HP:0001251	Ataxia	127833	SYT2	ORPHA:98914
HP:0001251	Ataxia	6572	SLC18A3	ORPHA:98914
HP:0001251	Ataxia	617	BCS1L	OMIM:124000
HP:0001251	Ataxia	80208	SPG11	OMIM:604360
HP:0001251	Ataxia	80208	SPG11	ORPHA:2822
HP:0001251	Ataxia	80208	SPG11	ORPHA:300605
HP:0001251	Ataxia	10577	NPC2	OMIM:607625
HP:0001251	Ataxia	9731	CEP104	OMIM:616781
HP:0001251	Ataxia	9731	CEP104	ORPHA:475
HP:0001251	Ataxia	4724	NDUFS4	OMIM:252010
HP:0001251	Ataxia	4724	NDUFS4	ORPHA:2609
HP:0001251	Ataxia	23389	MED13L	OMIM:616789
HP:0001251	Ataxia	23389	MED13L	ORPHA:369891
HP:0001251	Ataxia	8481	OFD1	ORPHA:2750
HP:0001251	Ataxia	8481	OFD1	ORPHA:2754
HP:0001251	Ataxia	3778	KCNMA1	OMIM:618729
HP:0001251	Ataxia	8086	AAAS	OMIM:231550
HP:0001251	Ataxia	8086	AAAS	ORPHA:869
HP:0001251	Ataxia	10210	TOPORS	ORPHA:2754
HP:0001251	Ataxia	9851	KIAA0753	ORPHA:2754
HP:0001251	Ataxia	26123	TCTN3	ORPHA:2754
HP:0001251	Ataxia	5147	PDE6D	ORPHA:2754
HP:0001251	Ataxia	65250	CPLANE1	ORPHA:2754
HP:0001251	Ataxia	65250	CPLANE1	ORPHA:475
HP:0001251	Ataxia	65250	CPLANE1	OMIM:614615
HP:0001251	Ataxia	317662	FAM149B1	ORPHA:2754
HP:0001251	Ataxia	374654	KIF7	ORPHA:2754
HP:0001251	Ataxia	9699	RIMS2	OMIM:618970
HP:0001251	Ataxia	672	BRCA1	OMIM:617883
HP:0001251	Ataxia	80169	CTC1	OMIM:612199
HP:0001251	Ataxia	6638	SNRPN	ORPHA:411515
HP:0001251	Ataxia	6638	SNRPN	OMIM:105830
HP:0001251	Ataxia	57194	ATP10A	ORPHA:411515
HP:0001251	Ataxia	54539	NDUFB11	ORPHA:2609
HP:0001251	Ataxia	25915	NDUFAF3	ORPHA:2609
HP:0001251	Ataxia	25915	NDUFAF3	ORPHA:70474
HP:0001251	Ataxia	51103	NDUFAF1	ORPHA:2609
HP:0001251	Ataxia	4716	NDUFB10	ORPHA:2609
HP:0001251	Ataxia	4723	NDUFV1	ORPHA:2609
HP:0001251	Ataxia	4723	NDUFV1	OMIM:618225
HP:0001251	Ataxia	55572	FOXRED1	ORPHA:2609
HP:0001251	Ataxia	284184	NDUFAF8	ORPHA:2609
HP:0001251	Ataxia	55863	TMEM126B	ORPHA:2609
HP:0001251	Ataxia	4729	NDUFV2	ORPHA:2609
HP:0001251	Ataxia	4726	NDUFS6	ORPHA:2609
HP:0001251	Ataxia	4728	NDUFS8	ORPHA:2609
HP:0001251	Ataxia	4722	NDUFS3	ORPHA:2609
HP:0001251	Ataxia	79133	NDUFAF5	ORPHA:2609
HP:0001251	Ataxia	126328	NDUFA11	ORPHA:2609
HP:0001251	Ataxia	4709	NDUFB3	ORPHA:2609
HP:0001251	Ataxia	80224	NUBPL	ORPHA:2609
HP:0001251	Ataxia	80224	NUBPL	OMIM:618242
HP:0001251	Ataxia	29078	NDUFAF4	ORPHA:2609
HP:0001251	Ataxia	374291	NDUFS7	ORPHA:2609
HP:0001251	Ataxia	374291	NDUFS7	OMIM:618224
HP:0001251	Ataxia	4700	NDUFA6	ORPHA:2609
HP:0001251	Ataxia	4719	NDUFS1	ORPHA:2609
HP:0001251	Ataxia	4719	NDUFS1	OMIM:618226
HP:0001251	Ataxia	4715	NDUFB9	ORPHA:2609
HP:0001251	Ataxia	29925	GMPPB	OMIM:615350
HP:0001251	Ataxia	8367	H4C5	OMIM:619950
HP:0001251	Ataxia	8518	ELP1	ORPHA:1764
HP:0001251	Ataxia	2720	GLB1	OMIM:230600
HP:0001251	Ataxia	2720	GLB1	OMIM:230650
HP:0001251	Ataxia	2720	GLB1	OMIM:253010
HP:0001251	Ataxia	1736	DKC1	OMIM:305000
HP:0001251	Ataxia	1736	DKC1	ORPHA:3322
HP:0001251	Ataxia	2072	ERCC4	ORPHA:90321
HP:0001251	Ataxia	2072	ERCC4	ORPHA:910
HP:0001251	Ataxia	2072	ERCC4	OMIM:278760
HP:0001251	Ataxia	2072	ERCC4	ORPHA:220295
HP:0001251	Ataxia	2067	ERCC1	ORPHA:90322
HP:0001251	Ataxia	10026	PIGK	OMIM:618879
HP:0001251	Ataxia	101060691	NUTM2B-AS1	OMIM:618637
HP:0001251	Ataxia	54982	CLN6	OMIM:204300
HP:0001251	Ataxia	10501	SEMA6B	OMIM:618876
HP:0001251	Ataxia	3781	KCNN2	OMIM:619725
HP:0001251	Ataxia	23474	ETHE1	ORPHA:51188
HP:0001251	Ataxia	23474	ETHE1	OMIM:602473
HP:0001251	Ataxia	10559	SLC35A1	OMIM:603585
HP:0001251	Ataxia	535	ATP6V0A1	OMIM:619971
HP:0001251	Ataxia	91869	RFT1	ORPHA:244310
HP:0001251	Ataxia	91869	RFT1	OMIM:612015
HP:0001251	Ataxia	816	CAMK2B	OMIM:617799
HP:0001251	Ataxia	7920	ABHD16A	OMIM:619735
HP:0001251	Ataxia	7469	NELFA	ORPHA:280
HP:0001251	Ataxia	7468	NSD2	ORPHA:280
HP:0001251	Ataxia	54968	TMEM70	OMIM:614052
HP:0001251	Ataxia	83636	C19orf12	OMIM:614298
HP:0001251	Ataxia	84314	TMEM107	OMIM:617563
HP:0001251	Ataxia	84314	TMEM107	OMIM:617562
HP:0001251	Ataxia	388962	BOLA3	OMIM:614299
HP:0001251	Ataxia	1759	DNM1	ORPHA:442835
HP:0001251	Ataxia	8120	AP3B2	ORPHA:442835
HP:0001251	Ataxia	523	ATP6V1A	ORPHA:442835
HP:0001251	Ataxia	10991	SLC38A3	ORPHA:442835
HP:0001251	Ataxia	22906	TRAK1	ORPHA:442835
HP:0001251	Ataxia	2566	GABRG2	ORPHA:442835
HP:0001251	Ataxia	2566	GABRG2	ORPHA:36387
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:442835
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:1942
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:544254
HP:0001251	Ataxia	6328	SCN3A	ORPHA:442835
HP:0001251	Ataxia	2558	GABRA5	ORPHA:442835
HP:0001251	Ataxia	781	CACNA2D1	ORPHA:442835
HP:0001251	Ataxia	2906	GRIN2D	ORPHA:442835
HP:0001251	Ataxia	10659	CELF2	ORPHA:442835
HP:0001251	Ataxia	774	CACNA1B	ORPHA:442835
HP:0001251	Ataxia	23334	SZT2	ORPHA:442835
HP:0001251	Ataxia	51412	ACTL6B	ORPHA:442835
HP:0001251	Ataxia	6506	SLC1A2	ORPHA:442835
HP:0001251	Ataxia	2258	FGF13	ORPHA:442835
HP:0001251	Ataxia	3745	KCNB1	ORPHA:442835
HP:0001251	Ataxia	25977	NECAP1	ORPHA:442835
HP:0001251	Ataxia	16	AARS1	ORPHA:442835
HP:0001251	Ataxia	22866	CNKSR2	ORPHA:442835
HP:0001251	Ataxia	2555	GABRA2	ORPHA:442835
HP:0001251	Ataxia	55152	DALRD3	ORPHA:442835
HP:0001251	Ataxia	26999	CYFIP2	ORPHA:442835
HP:0001251	Ataxia	4915	NTRK2	ORPHA:442835
HP:0001251	Ataxia	25973	PARS2	ORPHA:442835
HP:0001251	Ataxia	23097	CDK19	ORPHA:442835
HP:0001251	Ataxia	2257	FGF12	ORPHA:442835
HP:0001251	Ataxia	2257	FGF12	OMIM:617166
HP:0001251	Ataxia	5530	PPP3CA	ORPHA:442835
HP:0001251	Ataxia	284439	SLC25A42	OMIM:618416
HP:0001251	Ataxia	79600	TCTN1	ORPHA:475
HP:0001251	Ataxia	51684	SUFU	ORPHA:475
HP:0001251	Ataxia	51684	SUFU	ORPHA:2495
HP:0001251	Ataxia	51684	SUFU	OMIM:617757
HP:0001251	Ataxia	200894	ARL13B	ORPHA:475
HP:0001251	Ataxia	200894	ARL13B	OMIM:612291
HP:0001251	Ataxia	219844	HYLS1	ORPHA:475
HP:0001251	Ataxia	23247	KATNIP	ORPHA:475
HP:0001251	Ataxia	219854	TMEM218	ORPHA:475
HP:0001251	Ataxia	9786	KIAA0586	ORPHA:475
HP:0001251	Ataxia	80776	B9D2	ORPHA:475
HP:0001251	Ataxia	10464	PIBF1	ORPHA:475
HP:0001251	Ataxia	10464	PIBF1	OMIM:617767
HP:0001251	Ataxia	80210	ARMC9	ORPHA:475
HP:0001251	Ataxia	23116	TOGARAM1	ORPHA:475
HP:0001251	Ataxia	25776	CBY1	ORPHA:475
HP:0001251	Ataxia	84879	MFSD2A	OMIM:616486
HP:0001251	Ataxia	8879	SGPL1	OMIM:617575
HP:0001251	Ataxia	51604	PIGT	OMIM:615398
HP:0001251	Ataxia	27089	UQCRQ	OMIM:615159
HP:0001251	Ataxia	7701	ZNF142	OMIM:618425
HP:0001251	Ataxia	8021	NUP214	OMIM:618426
HP:0001251	Ataxia	4556	MT-TE	ORPHA:225
HP:0001251	Ataxia	285362	SUMF1	OMIM:272200
HP:0001251	Ataxia	5551	PRF1	OMIM:603553
HP:0001251	Ataxia	26137	ZBTB20	OMIM:259050
HP:0001251	Ataxia	51633	OTUD6B	ORPHA:505237
HP:0001251	Ataxia	9533	POLR1C	OMIM:616494
HP:0001251	Ataxia	9533	POLR1C	ORPHA:88637
HP:0001251	Ataxia	79991	STN1	OMIM:617341
HP:0001251	Ataxia	6942	TCF20	OMIM:618430
HP:0001251	Ataxia	256471	MFSD8	OMIM:610951
HP:0001251	Ataxia	2729	GCLC	ORPHA:33574
HP:0001251	Ataxia	23162	MAPK8IP3	OMIM:618443
HP:0001251	Ataxia	2562	GABRB3	OMIM:617113
HP:0001251	Ataxia	84833	ATP5MK	OMIM:618683
HP:0001251	Ataxia	29929	ALG6	ORPHA:79320
HP:0001251	Ataxia	29929	ALG6	OMIM:603147
HP:0001251	Ataxia	1106	CHD2	ORPHA:1942
HP:0001251	Ataxia	6529	SLC6A1	ORPHA:1942
HP:0001251	Ataxia	6529	SLC6A1	OMIM:616421
HP:0001251	Ataxia	79053	ALG8	ORPHA:79325
HP:0001251	Ataxia	29893	PSMC3IP	ORPHA:243
HP:0001251	Ataxia	171568	POLR3H	ORPHA:243
HP:0001251	Ataxia	2516	NR5A1	ORPHA:243
HP:0001251	Ataxia	125150	ZSWIM7	ORPHA:243
HP:0001251	Ataxia	9210	BMP15	ORPHA:243
HP:0001251	Ataxia	57122	NUP107	ORPHA:243
HP:0001251	Ataxia	23514	SPIDR	ORPHA:243
HP:0001251	Ataxia	2492	FSHR	ORPHA:243
HP:0001251	Ataxia	56945	MRPS22	ORPHA:243
HP:0001251	Ataxia	646	BNC1	ORPHA:243
HP:0001251	Ataxia	3730	ANOS1	OMIM:308700
HP:0001251	Ataxia	3730	ANOS1	ORPHA:478
HP:0001251	Ataxia	4509	MT-ATP8	ORPHA:480
HP:0001251	Ataxia	81570	CLPB	OMIM:616271
HP:0001251	Ataxia	6857	SYT1	OMIM:618218
HP:0001251	Ataxia	6857	SYT1	ORPHA:522077
HP:0001251	Ataxia	8803	SUCLA2	ORPHA:1933
HP:0001251	Ataxia	7080	NKX2-1	OMIM:610978
HP:0001251	Ataxia	7080	NKX2-1	ORPHA:209905
HP:0001251	Ataxia	2260	FGFR1	ORPHA:478
HP:0001251	Ataxia	10371	SEMA3A	ORPHA:478
HP:0001251	Ataxia	81848	SPRY4	ORPHA:478
HP:0001251	Ataxia	23767	FLRT3	ORPHA:478
HP:0001251	Ataxia	128674	PROKR2	ORPHA:478
HP:0001251	Ataxia	79625	NDNF	ORPHA:478
HP:0001251	Ataxia	2253	FGF8	ORPHA:478
HP:0001251	Ataxia	389549	FEZF1	ORPHA:478
HP:0001251	Ataxia	1630	DCC	ORPHA:478
HP:0001251	Ataxia	54756	IL17RD	ORPHA:478
HP:0001251	Ataxia	285025	CCDC141	ORPHA:478
HP:0001251	Ataxia	60675	PROK2	ORPHA:478
HP:0001251	Ataxia	55636	CHD7	ORPHA:478
HP:0001251	Ataxia	1848	DUSP6	ORPHA:478
HP:0001251	Ataxia	6870	TACR3	ORPHA:478
HP:0001251	Ataxia	55717	WDR11	ORPHA:478
HP:0001251	Ataxia	9394	HS6ST1	ORPHA:478
HP:0001251	Ataxia	8820	HESX1	ORPHA:478
HP:0001251	Ataxia	8822	FGF17	ORPHA:478
HP:0001251	Ataxia	23013	SPEN	OMIM:619312
HP:0001251	Ataxia	30000	TNPO2	OMIM:619556
HP:0001251	Ataxia	51728	POLR3K	OMIM:619310
HP:0001251	Ataxia	10102	TSFM	OMIM:610505
HP:0001251	Ataxia	2581	GALC	ORPHA:206443
HP:0001251	Ataxia	2581	GALC	ORPHA:206448
HP:0001251	Ataxia	1436	CSF1R	OMIM:618476
HP:0001251	Ataxia	9342	SNAP29	ORPHA:66631
HP:0001251	Ataxia	23030	KDM4B	OMIM:619320
HP:0001251	Ataxia	137682	NDUFAF6	OMIM:618239
HP:0001251	Ataxia	9179	AP4M1	OMIM:612936
HP:0001251	Ataxia	79944	L2HGDH	OMIM:236792
HP:0001251	Ataxia	6904	TBCD	ORPHA:496641
HP:0001251	Ataxia	6904	TBCD	OMIM:617193
HP:0001251	Ataxia	10059	DNM1L	ORPHA:98673
HP:0001251	Ataxia	25929	GEMIN5	OMIM:619333
HP:0001251	Ataxia	2560	GABRB1	OMIM:617153
HP:0001251	Ataxia	79641	ROGDI	OMIM:226750
HP:0001251	Ataxia	29920	PYCR2	ORPHA:481152
HP:0001251	Ataxia	6898	TAT	ORPHA:28378
HP:0001251	Ataxia	10483	SEC23B	ORPHA:201
HP:0001251	Ataxia	6391	SDHC	ORPHA:201
HP:0001251	Ataxia	207	AKT1	ORPHA:201
HP:0001251	Ataxia	207	AKT1	ORPHA:2495
HP:0001251	Ataxia	205717	USF3	ORPHA:201
HP:0001251	Ataxia	5290	PIK3CA	ORPHA:201
HP:0001251	Ataxia	5290	PIK3CA	ORPHA:2495
HP:0001251	Ataxia	100144748	KLLN	ORPHA:201
HP:0001251	Ataxia	8635	RNASET2	OMIM:612951
HP:0001251	Ataxia	6697	SPR	OMIM:612716
HP:0001251	Ataxia	51095	TRNT1	OMIM:616084
HP:0001251	Ataxia	35	ACADS	OMIM:201470
HP:0001251	Ataxia	29926	GMPPA	ORPHA:869
HP:0001251	Ataxia	29926	GMPPA	OMIM:615510
HP:0001251	Ataxia	128240	NAXE	OMIM:617186
HP:0001251	Ataxia	440138	ALG11	ORPHA:280071
HP:0001251	Ataxia	23287	AGTPBP1	OMIM:618276
HP:0001251	Ataxia	23287	AGTPBP1	ORPHA:2254
HP:0001251	Ataxia	6571	SLC18A2	OMIM:618049
HP:0001251	Ataxia	6571	SLC18A2	ORPHA:352649
HP:0001251	Ataxia	1719	DHFR	OMIM:613839
HP:0001251	Ataxia	55074	OXR1	OMIM:213000
HP:0001251	Ataxia	79644	SRD5A3	ORPHA:324737
HP:0001251	Ataxia	8996	NOL3	OMIM:614937
HP:0001251	Ataxia	27183	VPS4A	OMIM:619273
HP:0001251	Ataxia	91574	MTRFR	ORPHA:254930
HP:0001251	Ataxia	91574	MTRFR	OMIM:613559
HP:0001251	Ataxia	400916	CHCHD10	OMIM:615911
HP:0001251	Ataxia	2299	FOXI1	ORPHA:705
HP:0001251	Ataxia	5172	SLC26A4	ORPHA:705
HP:0001251	Ataxia	57176	VARS2	OMIM:615917
HP:0001251	Ataxia	1352	COX10	OMIM:619046
HP:0001251	Ataxia	116228	COX20	OMIM:619054
HP:0001251	Ataxia	1757	SARDH	ORPHA:3129
HP:0001251	Ataxia	686	BTD	OMIM:253260
HP:0001251	Ataxia	686	BTD	ORPHA:79241
HP:0001251	Ataxia	10015	PDCD6IP	OMIM:620047
HP:0001251	Ataxia	3117	HLA-DQA1	OMIM:212750
HP:0001251	Ataxia	4697	NDUFA4	OMIM:619065
HP:0001251	Ataxia	23461	ABCA5	ORPHA:2026
HP:0001251	Ataxia	112476	PRRT2	ORPHA:98811
HP:0001251	Ataxia	5230	PGK1	ORPHA:713
HP:0001251	Ataxia	5230	PGK1	OMIM:300653
HP:0001251	Ataxia	6335	SCN9A	ORPHA:36387
HP:0001251	Ataxia	112755	STX1B	ORPHA:36387
HP:0001251	Ataxia	2563	GABRD	ORPHA:36387
HP:0001251	Ataxia	84059	ADGRV1	ORPHA:36387
HP:0001251	Ataxia	84059	ADGRV1	ORPHA:231178
HP:0001251	Ataxia	11340	EXOSC8	ORPHA:2254
HP:0001251	Ataxia	5393	EXOSC9	ORPHA:2254
HP:0001251	Ataxia	51010	EXOSC3	ORPHA:2254
HP:0001251	Ataxia	7443	VRK1	ORPHA:2254
HP:0001251	Ataxia	7443	VRK1	OMIM:607596
HP:0001251	Ataxia	2073	ERCC5	OMIM:278780
HP:0001251	Ataxia	2073	ERCC5	ORPHA:910
HP:0001251	Ataxia	2073	ERCC5	ORPHA:220295
HP:0001251	Ataxia	8314	BAP1	ORPHA:2495
HP:0001251	Ataxia	4771	NF2	ORPHA:2495
HP:0001251	Ataxia	4771	NF2	OMIM:101000
HP:0001251	Ataxia	6598	SMARCB1	ORPHA:2495
HP:0001251	Ataxia	6598	SMARCB1	ORPHA:99966
HP:0001251	Ataxia	5155	PDGFB	ORPHA:2495
HP:0001251	Ataxia	84231	TRAF7	ORPHA:2495
HP:0001251	Ataxia	6608	SMO	ORPHA:2495
HP:0001251	Ataxia	6605	SMARCE1	ORPHA:2495
HP:0001251	Ataxia	2521	FUS	ORPHA:300605
HP:0001251	Ataxia	10280	SIGMAR1	ORPHA:300605
HP:0001251	Ataxia	10558	SPTLC1	ORPHA:300605
HP:0001251	Ataxia	4089	SMAD4	OMIM:139210
HP:0001251	Ataxia	3187	HNRNPH1	OMIM:620083
HP:0001251	Ataxia	2937	GSS	OMIM:266130
HP:0001251	Ataxia	9147	NEMF	OMIM:619099
HP:0001251	Ataxia	26047	CNTNAP2	OMIM:610042
HP:0001251	Ataxia	26047	CNTNAP2	ORPHA:163681
HP:0001251	Ataxia	162417	NAGS	ORPHA:927
HP:0001251	Ataxia	51750	RTEL1	ORPHA:3322
HP:0001251	Ataxia	65057	ACD	ORPHA:3322
HP:0001251	Ataxia	84978	FRMD5	OMIM:620094
HP:0001251	Ataxia	80199	FUZ	ORPHA:1136
HP:0001251	Ataxia	80207	OPA3	OMIM:258501
HP:0001251	Ataxia	80207	OPA3	ORPHA:67036
HP:0001251	Ataxia	80207	OPA3	ORPHA:67047
HP:0001251	Ataxia	7507	XPA	ORPHA:910
HP:0001251	Ataxia	7507	XPA	OMIM:278700
HP:0001251	Ataxia	7508	XPC	ORPHA:910
HP:0001251	Ataxia	1643	DDB2	ORPHA:910
HP:0001251	Ataxia	6683	SPAST	ORPHA:100985
HP:0001251	Ataxia	125988	MICOS13	ORPHA:67047
HP:0001251	Ataxia	23095	KIF1B	OMIM:256700
HP:0001251	Ataxia	56997	COQ8A	OMIM:612016
HP:0001251	Ataxia	6301	SARS1	OMIM:617709
HP:0001251	Ataxia	2592	GALT	ORPHA:79239
HP:0001251	Ataxia	6609	SMPD1	ORPHA:77293
HP:0001251	Ataxia	203068	TUBB	OMIM:615771
HP:0001251	Ataxia	11253	MAN1B1	OMIM:614202
HP:0001251	Ataxia	2058	EPRS1	OMIM:617951
HP:0001251	Ataxia	3141	HLCS	ORPHA:79242
HP:0001251	Ataxia	9361	LONP1	ORPHA:79243
HP:0001251	Ataxia	1641	DCX	OMIM:300067
HP:0001251	Ataxia	7399	USH2A	ORPHA:231178
HP:0001251	Ataxia	79955	PDZD7	ORPHA:231178
HP:0001251	Ataxia	4647	MYO7A	ORPHA:231178
HP:0001251	Ataxia	4647	MYO7A	ORPHA:231169
HP:0001251	Ataxia	25861	WHRN	ORPHA:231178
HP:0001251	Ataxia	51501	HIKESHI	OMIM:616881
HP:0001251	Ataxia	3747	KCNC2	OMIM:619913
HP:0001251	Ataxia	51002	TPRKB	OMIM:617731
HP:0001251	Ataxia	338	APOB	OMIM:615558
HP:0001251	Ataxia	22934	RPIA	OMIM:608611
HP:0001251	Ataxia	7040	TGFB1	ORPHA:1328
HP:0001251	Ataxia	5293	PIK3CD	ORPHA:221139
HP:0001251	Ataxia	90417	KNSTRN	ORPHA:221139
HP:0001251	Ataxia	4714	NDUFB8	ORPHA:70474
HP:0001251	Ataxia	9997	SCO2	ORPHA:70474
HP:0001251	Ataxia	23209	MLC1	OMIM:604004
HP:0001251	Ataxia	5162	PDHB	ORPHA:255138
HP:0001251	Ataxia	7401	CLRN1	ORPHA:231183
HP:0001251	Ataxia	22901	ARSG	ORPHA:231183
HP:0001251	Ataxia	84131	CEP78	ORPHA:231183
HP:0001251	Ataxia	6591	SNAI2	ORPHA:2884
HP:0001251	Ataxia	3815	KIT	ORPHA:2884
HP:0001251	Ataxia	5538	PPT1	OMIM:256730
HP:0001251	Ataxia	25974	MMACHC	ORPHA:79282
HP:0001251	Ataxia	64072	CDH23	ORPHA:231169
HP:0001251	Ataxia	10083	USH1C	ORPHA:231169
HP:0001251	Ataxia	124590	USH1G	ORPHA:231169
HP:0001251	Ataxia	83715	ESPN	ORPHA:231169
HP:0001251	Ataxia	10518	CIB2	ORPHA:231169
HP:0001251	Ataxia	65217	PCDH15	ORPHA:231169
HP:0001251	Ataxia	55753	OGDHL	OMIM:619701
HP:0001251	Ataxia	284217	LAMA1	ORPHA:370022
HP:0001251	Ataxia	10749	KIF1C	ORPHA:397946
HP:0001251	Ataxia	10749	KIF1C	OMIM:611302
HP:0001251	Ataxia	23646	PLD3	OMIM:617770
HP:0001251	Ataxia	55703	POLR3B	OMIM:614381
HP:0001251	Ataxia	55703	POLR3B	OMIM:607694
HP:0001251	Ataxia	4099	MAG	OMIM:616680
HP:0001251	Ataxia	4099	MAG	ORPHA:459056
HP:0001251	Ataxia	91452	ACBD5	OMIM:618863
HP:0001251	Ataxia	9853	RUSC2	OMIM:617773
HP:0001251	Ataxia	9254	CACNA2D2	OMIM:618501
HP:0001251	Ataxia	5457	POU4F1	ORPHA:314647
HP:0001251	Ataxia	5457	POU4F1	OMIM:619352
HP:0001251	Ataxia	23261	CAMTA1	ORPHA:314647
HP:0001251	Ataxia	23261	CAMTA1	OMIM:614756
HP:0001251	Ataxia	4758	NEU1	OMIM:256550
HP:0001251	Ataxia	4758	NEU1	ORPHA:93399
HP:0001251	Ataxia	4758	NEU1	ORPHA:93400
HP:0001251	Ataxia	10159	ATP6AP2	ORPHA:93952
HP:0001251	Ataxia	5521	PPP2R2B	OMIM:604326
HP:0001251	Ataxia	6311	ATXN2	OMIM:183090
HP:0001251	Ataxia	5917	RARS1	ORPHA:438114
HP:0001251	Ataxia	5917	RARS1	OMIM:616140
HP:0001251	Ataxia	2670	GFAP	OMIM:203450
HP:0001251	Ataxia	10730	YME1L1	OMIM:617302
HP:0001251	Ataxia	8309	ACOX2	OMIM:617308
HP:0001251	Ataxia	2911	GRM1	OMIM:614831
HP:0001251	Ataxia	2911	GRM1	OMIM:617691
HP:0001251	Ataxia	2911	GRM1	ORPHA:324262
HP:0001251	Ataxia	547	KIF1A	OMIM:610357
HP:0001251	Ataxia	55780	ERMARD	ORPHA:75857
HP:0001251	Ataxia	219285	SAMD9L	OMIM:159550
HP:0001251	Ataxia	219285	SAMD9L	OMIM:619806
HP:0001251	Ataxia	7345	UCHL1	OMIM:615491
HP:0001251	Ataxia	8913	CACNA1G	OMIM:618087
HP:0001251	Ataxia	64207	IRF2BPL	OMIM:618088
HP:0001251	Ataxia	64834	ELOVL1	OMIM:618527
HP:0001251	Ataxia	5173	PDYN	OMIM:610245
HP:0001251	Ataxia	5173	PDYN	ORPHA:101108
HP:0001251	Ataxia	8560	DEGS1	OMIM:618404
HP:0001251	Ataxia	10939	AFG3L2	ORPHA:313772
HP:0001251	Ataxia	10939	AFG3L2	OMIM:614487
HP:0001251	Ataxia	2332	FMR1	ORPHA:93256
HP:0001251	Ataxia	2332	FMR1	OMIM:300623
HP:0001251	Ataxia	823	CAPN1	OMIM:616907
HP:0001251	Ataxia	22	ABCB7	OMIM:301310
HP:0001251	Ataxia	343641	TGM6	ORPHA:276193
HP:0001251	Ataxia	343641	TGM6	OMIM:613908
HP:0001251	Ataxia	7274	TTPA	ORPHA:96
HP:0001251	Ataxia	7274	TTPA	OMIM:277460
HP:0001251	Ataxia	857	CAV1	OMIM:606721
HP:0001251	Ataxia	6687	SPG7	OMIM:607259
HP:0001251	Ataxia	80856	LNPK	OMIM:618090
HP:0001251	Ataxia	26278	SACS	ORPHA:98
HP:0001251	Ataxia	26278	SACS	OMIM:270550
HP:0001251	Ataxia	51651	PTRH2	ORPHA:456312
HP:0001251	Ataxia	51651	PTRH2	OMIM:616263
HP:0001251	Ataxia	23203	PMPCA	ORPHA:1170
HP:0001251	Ataxia	23203	PMPCA	OMIM:213200
HP:0001251	Ataxia	7156	TOP3A	OMIM:618098
HP:0001251	Ataxia	246243	RNASEH1	OMIM:616479
HP:0001251	Ataxia	26090	ABHD12	OMIM:612674
HP:0001251	Ataxia	10352	WARS2	ORPHA:572798
HP:0001251	Ataxia	10352	WARS2	OMIM:617710
HP:0001251	Ataxia	2705	GJB1	ORPHA:1175
HP:0001251	Ataxia	2705	GJB1	OMIM:302800
HP:0001251	Ataxia	144165	PRICKLE1	OMIM:612437
HP:0001251	Ataxia	9907	AP5Z1	OMIM:613647
HP:0001251	Ataxia	79152	FA2H	OMIM:612319
HP:0001251	Ataxia	79152	FA2H	ORPHA:171629
HP:0001251	Ataxia	2395	FXN	ORPHA:95
HP:0001251	Ataxia	6908	TBP	OMIM:607136
HP:0001251	Ataxia	5373	PMM2	OMIM:212065
HP:0001251	Ataxia	477	ATP1A2	OMIM:602481
HP:0001251	Ataxia	3475	IFRD1	ORPHA:98771
HP:0001251	Ataxia	84138	SLC7A6OS	OMIM:619191
HP:0001251	Ataxia	55768	NGLY1	OMIM:615273
HP:0001251	Ataxia	9895	TECPR2	OMIM:615031
HP:0001251	Ataxia	9895	TECPR2	ORPHA:320385
HP:0001251	Ataxia	54902	TTC19	OMIM:615157
HP:0001251	Ataxia	5828	PEX2	OMIM:614867
HP:0001251	Ataxia	6804	STX1A	ORPHA:904
HP:0001251	Ataxia	7461	CLIP2	ORPHA:904
HP:0001251	Ataxia	84277	DNAJC30	ORPHA:904
HP:0001251	Ataxia	8468	FKBP6	ORPHA:904
HP:0001251	Ataxia	5982	RFC2	ORPHA:904
HP:0001251	Ataxia	2969	GTF2I	ORPHA:904
HP:0001251	Ataxia	3984	LIMK1	ORPHA:904
HP:0001251	Ataxia	9569	GTF2IRD1	ORPHA:904
HP:0001251	Ataxia	155382	VPS37D	ORPHA:904
HP:0001251	Ataxia	155368	METTL27	ORPHA:904
HP:0001251	Ataxia	114049	BUD23	ORPHA:904
HP:0001251	Ataxia	7458	EIF4H	ORPHA:904
HP:0001251	Ataxia	84163	GTF2IRD2	ORPHA:904
HP:0001251	Ataxia	9275	BCL7B	ORPHA:904
HP:0001251	Ataxia	26608	TBL2	ORPHA:904
HP:0001251	Ataxia	653361	NCF1	ORPHA:904
HP:0001251	Ataxia	135886	TMEM270	ORPHA:904
HP:0001251	Ataxia	51085	MLXIPL	ORPHA:904
HP:0001251	Ataxia	9031	BAZ1B	ORPHA:904
HP:0001251	Ataxia	2006	ELN	ORPHA:904
HP:0001251	Ataxia	5297	PI4KA	ORPHA:98889
HP:0001251	Ataxia	5297	PI4KA	OMIM:619708
HP:0001251	Ataxia	27286	SRPX2	ORPHA:98889
HP:0001251	Ataxia	23137	SMC5	OMIM:620185
HP:0001251	Ataxia	25814	ATXN10	ORPHA:98761
HP:0001251	Ataxia	25814	ATXN10	OMIM:603516
HP:0001251	Ataxia	8733	GPAA1	ORPHA:529665
HP:0001251	Ataxia	8733	GPAA1	OMIM:617810
HP:0001251	Ataxia	59336	PRDM13	OMIM:619761
HP:0001251	Ataxia	9409	PEX16	OMIM:614877
HP:0001251	Ataxia	10531	PITRM1	OMIM:619405
HP:0001251	Ataxia	57462	MYORG	OMIM:618317
HP:0001251	Ataxia	11261	CHP1	OMIM:618438
HP:0001251	Ataxia	5981	RFC1	ORPHA:504476
HP:0001251	Ataxia	9725	TMEM63A	OMIM:618688
HP:0001251	Ataxia	1384	CRAT	OMIM:617917
HP:0001251	Ataxia	85021	REPS1	OMIM:617916
HP:0001251	Ataxia	6314	ATXN7	ORPHA:94147
HP:0001251	Ataxia	6314	ATXN7	OMIM:164500
HP:0001251	Ataxia	5654	HTRA1	OMIM:600142
HP:0001251	Ataxia	56652	TWNK	OMIM:607459
HP:0001251	Ataxia	3980	LIG3	OMIM:619780
HP:0001251	Ataxia	2583	B4GALNT1	OMIM:609195
HP:0001251	Ataxia	57165	GJC2	OMIM:613206
HP:0001251	Ataxia	4001	LMNB1	ORPHA:99027
HP:0001251	Ataxia	23111	SPART	OMIM:275900
HP:0001251	Ataxia	92935	MARS2	OMIM:611390
HP:0001251	Ataxia	92935	MARS2	ORPHA:314603
HP:0001251	Ataxia	23345	SYNE1	ORPHA:88644
HP:0001251	Ataxia	23345	SYNE1	OMIM:610743
HP:0001251	Ataxia	9698	PUM1	OMIM:617931
HP:0001251	Ataxia	6334	SCN8A	OMIM:614306
HP:0001251	Ataxia	4967	OGDH	OMIM:203740
HP:0001251	Ataxia	6548	SLC9A1	OMIM:616291
HP:0001251	Ataxia	91942	NDUFAF2	OMIM:618233
HP:0001251	Ataxia	440193	CCDC88C	OMIM:616053
HP:0001251	Ataxia	440193	CCDC88C	ORPHA:423275
HP:0001251	Ataxia	23114	NFASC	OMIM:618356
HP:0001251	Ataxia	8878	SQSTM1	OMIM:617145
HP:0001251	Ataxia	10157	AASS	ORPHA:2203
HP:0001251	Ataxia	56915	EXOSC5	OMIM:619576
HP:0001251	Ataxia	9512	PMPCB	OMIM:617954
HP:0001251	Ataxia	91137	SLC25A46	OMIM:616505
HP:0001251	Ataxia	4361	MRE11	OMIM:604391
HP:0001251	Ataxia	4361	MRE11	ORPHA:251347
HP:0001251	Ataxia	5582	PRKCG	OMIM:605361
HP:0001251	Ataxia	4547	MTTP	ORPHA:14
HP:0001251	Ataxia	51300	TIMMDC1	OMIM:618251
HP:0001251	Ataxia	54664	TMEM106B	OMIM:617964
HP:0001251	Ataxia	8884	SLC5A6	OMIM:619903
HP:0001251	Ataxia	1200	TPP1	OMIM:609270
HP:0001251	Ataxia	1200	TPP1	ORPHA:284324
HP:0001251	Ataxia	65260	COA7	OMIM:618387
HP:0001251	Ataxia	9150	CTDP1	ORPHA:48431
HP:0001251	Ataxia	8270	LAGE3	OMIM:301006
HP:0001251	Ataxia	64849	SLC13A3	OMIM:618384
HP:0001251	Ataxia	79867	TCTN2	OMIM:616654
HP:0001251	Ataxia	54676	GTPBP2	OMIM:617988
HP:0001251	Ataxia	7518	XRCC4	OMIM:616541
HP:0001251	Ataxia	119559	SFXN4	OMIM:615578
HP:0001251	Ataxia	7515	XRCC1	OMIM:617633
HP:0001251	Ataxia	23533	PIK3R5	OMIM:615217
HP:0001251	Ataxia	5354	PLP1	OMIM:312920
HP:0001251	Ataxia	54936	ADPRS	OMIM:618170
HP:0001251	Ataxia	84274	COQ5	OMIM:619028
HP:0001251	Ataxia	221927	BRAT1	OMIM:618056
HP:0001251	Ataxia	8398	PLA2G6	OMIM:610217
HP:0001251	Ataxia	50640	PNPLA8	OMIM:251950
HP:0001251	Ataxia	64374	SIL1	OMIM:248800
HP:0001251	Ataxia	8450	CUL4B	OMIM:300354
HP:0001251	Ataxia	2643	GCH1	OMIM:128230
HP:0001251	Ataxia	2643	GCH1	ORPHA:98808
HP:0001251	Ataxia	158	ADSL	OMIM:103050
HP:0001251	Ataxia	146227	BEAN1	OMIM:117210
HP:0001251	Ataxia	146227	BEAN1	ORPHA:217012
HP:0001251	Ataxia	22880	MORC2	OMIM:616688
HP:0001251	Ataxia	51126	NAA20	OMIM:619717
HP:0001251	Ataxia	51343	FZR1	OMIM:620145
HP:0001251	Ataxia	4359	MPZ	OMIM:180800
HP:0001251	Ataxia	4359	MPZ	ORPHA:3115
HP:0001251	Ataxia	5376	PMP22	OMIM:180800
HP:0001251	Ataxia	5376	PMP22	ORPHA:3115
HP:0001251	Ataxia	5376	PMP22	ORPHA:98916
HP:0001251	Ataxia	5660	PSAP	OMIM:249900
HP:0001251	Ataxia	5660	PSAP	ORPHA:309256
HP:0001251	Ataxia	4535	MT-ND1	ORPHA:255210
HP:0001251	Ataxia	4536	MT-ND2	ORPHA:255210
HP:0001251	Ataxia	4537	MT-ND3	ORPHA:255210
HP:0001251	Ataxia	4538	MT-ND4	ORPHA:255210
HP:0001251	Ataxia	4567	MT-TL1	ORPHA:255210
HP:0001251	Ataxia	4578	MT-TW	ORPHA:255210
HP:0001251	Ataxia	4577	MT-TV	ORPHA:255210
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:255210
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:225154
HP:0001251	Ataxia	4540	MT-ND5	ORPHA:255210
HP:0001251	Ataxia	4541	MT-ND6	ORPHA:255210
HP:0001251	Ataxia	4566	MT-TK	ORPHA:255210
HP:0001251	Ataxia	4983	OPHN1	OMIM:300486
HP:0001251	Ataxia	80232	WDR26	ORPHA:513456
HP:0001251	Ataxia	3074	HEXB	ORPHA:309169
HP:0001251	Ataxia	10908	PNPLA6	ORPHA:139480
HP:0001251	Ataxia	10908	PNPLA6	OMIM:215470
HP:0001251	Ataxia	8722	CTSF	OMIM:615362
HP:0001251	Ataxia	283489	CHAMP1	OMIM:616579
HP:0001251	Ataxia	28960	DCPS	OMIM:616459
HP:0001251	Ataxia	7054	TH	OMIM:605407
HP:0001251	Ataxia	7054	TH	ORPHA:101150
HP:0001251	Ataxia	3064	HTT	ORPHA:248111
HP:0001251	Ataxia	3064	HTT	OMIM:143100
HP:0001251	Ataxia	57492	ARID1B	OMIM:135900
HP:0001251	Ataxia	50484	RRM2B	OMIM:613077
HP:0001251	Ataxia	50484	RRM2B	ORPHA:254892
HP:0001251	Ataxia	50484	RRM2B	OMIM:612075
HP:0001251	Ataxia	5119	CHMP1A	OMIM:614961
HP:0001251	Ataxia	5190	PEX6	ORPHA:95433
HP:0001251	Ataxia	5832	ALDH18A1	OMIM:601162
HP:0001251	Ataxia	10935	PRDX3	OMIM:619862
HP:0001251	Ataxia	5528	PPP2R5D	OMIM:616355
HP:0001251	Ataxia	54872	PIGG	ORPHA:488635
HP:0001251	Ataxia	2903	GRIN2A	ORPHA:98818
HP:0001251	Ataxia	950	SCARB2	OMIM:254900
HP:0001251	Ataxia	27235	COQ2	ORPHA:98933
HP:0001251	Ataxia	27235	COQ2	ORPHA:227510
HP:0001251	Ataxia	4747	NEFL	ORPHA:101085
HP:0001251	Ataxia	9711	RUBCN	OMIM:615705
HP:0001251	Ataxia	9711	RUBCN	ORPHA:404499
HP:0001251	Ataxia	339453	TMEM240	ORPHA:98773
HP:0001251	Ataxia	339453	TMEM240	OMIM:607454
HP:0001251	Ataxia	5518	PPP2R1A	OMIM:616362
HP:0001251	Ataxia	3748	KCNC3	ORPHA:98768
HP:0001251	Ataxia	3748	KCNC3	OMIM:605259
HP:0001251	Ataxia	60481	ELOVL5	OMIM:615957
HP:0001251	Ataxia	60481	ELOVL5	ORPHA:423296
HP:0001251	Ataxia	80704	SLC19A3	OMIM:607483
HP:0001251	Ataxia	724066	ATXN8	ORPHA:98760
HP:0001251	Ataxia	6315	ATXN8OS	ORPHA:98760
HP:0001251	Ataxia	4311	MME	ORPHA:497764
HP:0001251	Ataxia	4311	MME	OMIM:617018
HP:0001251	Ataxia	55210	ATAD3A	ORPHA:496790
HP:0001251	Ataxia	2232	FDXR	ORPHA:543470
HP:0001251	Ataxia	7222	TRPC3	ORPHA:458798
HP:0001251	Ataxia	7222	TRPC3	OMIM:616410
HP:0001251	Ataxia	1356	CP	ORPHA:48818
HP:0001251	Ataxia	23400	ATP13A2	OMIM:617225
HP:0001251	Ataxia	6925	TCF4	OMIM:610954
HP:0001251	Ataxia	6925	TCF4	ORPHA:2896
HP:0001251	Ataxia	4677	NARS1	OMIM:619092
HP:0001251	Ataxia	55739	NAXD	OMIM:618321
HP:0001251	Ataxia	51741	WWOX	ORPHA:284282
HP:0001251	Ataxia	51741	WWOX	OMIM:614322
HP:0001251	Ataxia	9922	IQSEC1	OMIM:618687
HP:0001251	Ataxia	23219	FBXO28	OMIM:619777
HP:0001251	Ataxia	2055	CLN8	ORPHA:1947
HP:0001251	Ataxia	404672	GTF2H5	ORPHA:33364
HP:0001251	Ataxia	833	CARS1	ORPHA:33364
HP:0001251	Ataxia	2068	ERCC2	ORPHA:33364
HP:0001251	Ataxia	7737	RNF113A	ORPHA:33364
HP:0001251	Ataxia	7737	RNF113A	OMIM:300953
HP:0001251	Ataxia	136647	MPLKIP	ORPHA:33364
HP:0001251	Ataxia	6897	TARS1	ORPHA:33364
HP:0001251	Ataxia	2071	ERCC3	ORPHA:33364
HP:0001251	Ataxia	2961	GTF2E2	ORPHA:33364
HP:0001251	Ataxia	3954	LETM1	OMIM:620089
HP:0001251	Ataxia	1487	CTBP1	OMIM:617915
HP:0001251	Ataxia	6595	SMARCA2	OMIM:601358
HP:0001251	Ataxia	27077	B9D1	OMIM:617120
HP:0001251	Ataxia	5111	PCNA	ORPHA:438134
HP:0001251	Ataxia	57716	PRX	OMIM:614895
HP:0001251	Ataxia	79628	SH3TC2	ORPHA:99949
HP:0001251	Ataxia	57410	SCYL1	OMIM:616719
HP:0001251	Ataxia	57410	SCYL1	ORPHA:466794
HP:0001251	Ataxia	10382	TUBB4A	OMIM:128101
HP:0001251	Ataxia	23064	SETX	OMIM:606002
HP:0001251	Ataxia	9230	RAB11B	OMIM:617807
HP:0001251	Ataxia	8905	AP1S2	OMIM:304340
HP:0001251	Ataxia	54704	PDP1	OMIM:608782
HP:0001251	Ataxia	291	SLC25A4	ORPHA:254892
HP:0001251	Ataxia	11232	POLG2	ORPHA:254892
HP:0001251	Ataxia	6134	RPL10	OMIM:300998
HP:0001251	Ataxia	8925	HERC1	OMIM:617011
HP:0001251	Ataxia	8925	HERC1	ORPHA:457359
HP:0001251	Ataxia	57102	C12orf4	OMIM:618221
HP:0001251	Ataxia	79876	UBA5	OMIM:617133
HP:0001251	Ataxia	10765	KDM5B	OMIM:618109
HP:0001251	Ataxia	9256	TSPOAP1	ORPHA:101150
HP:0001251	Ataxia	57465	TBC1D24	OMIM:605021
HP:0001251	Ataxia	26580	BSCL2	ORPHA:363400
HP:0001251	Ataxia	22854	NTNG1	ORPHA:3095
HP:0001251	Ataxia	9568	GABBR2	ORPHA:3095
HP:0001251	Ataxia	8243	SMC1A	ORPHA:3095
HP:0001251	Ataxia	23102	TBC1D2B	OMIM:619323
HP:0001251	Ataxia	4081	MAB21L1	OMIM:618479
HP:0001251	Ataxia	2891	GRIA2	OMIM:618917
HP:0001251	Ataxia	5994	RFXAP	ORPHA:572
HP:0001251	Ataxia	4261	CIITA	ORPHA:572
HP:0001251	Ataxia	5993	RFX5	ORPHA:572
HP:0001251	Ataxia	8625	RFXANK	ORPHA:572
HP:0001251	Ataxia	28982	FLVCR1	ORPHA:88628
HP:0001251	Ataxia	1181	CLCN2	OMIM:615651
HP:0001251	Ataxia	4125	MAN2B1	OMIM:248500
HP:0001251	Ataxia	116150	NUS1	OMIM:617831
HP:0001251	Ataxia	54974	THG1L	OMIM:618800
HP:0001251	Ataxia	4864	NPC1	OMIM:257220
HP:0001251	Ataxia	3119	HLA-DQB1	OMIM:123400
HP:0001251	Ataxia	20	ABCA2	OMIM:618808
HP:0001251	Ataxia	2898	GRIK2	OMIM:619580
HP:0001251	Ataxia	5611	DNAJC3	OMIM:616192
HP:0001251	Ataxia	5611	DNAJC3	ORPHA:445062
HP:0001251	Ataxia	372	ARCN1	OMIM:617164
HP:0001251	Ataxia	23395	LARS2	OMIM:615300
HP:0001251	Ataxia	128989	TANGO2	OMIM:616878
HP:0001251	Ataxia	2065	ERBB3	OMIM:243180
HP:0001251	Ataxia	87178	PNPT1	ORPHA:101111
HP:0001251	Ataxia	410	ARSA	ORPHA:309256
HP:0001251	Ataxia	4929	NR4A2	ORPHA:98808
HP:0001251	Ataxia	3615	IMPDH2	ORPHA:98808
HP:0001251	Ataxia	7343	UBTF	ORPHA:500180
HP:0001251	Ataxia	9829	DNAJC6	ORPHA:391411
HP:0001251	Ataxia	5420	PODXL	ORPHA:391411
HP:0001251	Ataxia	8867	SYNJ1	ORPHA:391411
HP:0001251	Ataxia	5058	PAK1	OMIM:618158
HP:0001251	Ataxia	122553	TRAPPC6B	OMIM:617862
HP:0001251	Ataxia	7204	TRIO	ORPHA:476126
HP:0001251	Ataxia	3295	HSD17B4	OMIM:233400
HP:0001251	Ataxia	6785	ELOVL4	OMIM:133190
HP:0001251	Ataxia	10522	DEAF1	ORPHA:468620
HP:0001251	Ataxia	9516	LITAF	OMIM:601098
HP:0001251	Ataxia	5456	POU3F4	ORPHA:1435
HP:0001251	Ataxia	23636	NUP62	ORPHA:225154
HP:0001251	Ataxia	103	ADAR	ORPHA:225154
HP:0001251	Ataxia	84823	LMNB2	OMIM:616540
HP:0001251	Ataxia	22943	DKK1	ORPHA:268882
HP:0001251	Ataxia	9487	PIGL	OMIM:280000
HP:0001251	Ataxia	738	VPS51	OMIM:618606
HP:0001251	Ataxia	81615	TMEM163	OMIM:620243
HP:0001251	Ataxia	1795	DOCK3	OMIM:618292
HP:0001251	Ataxia	129285	PPP1R21	OMIM:619383
HP:0001251	Ataxia	1968	EIF2S3	OMIM:300148
HP:0001251	Ataxia	84842	HPDL	OMIM:619027
HP:0001251	Ataxia	2196	FAT2	OMIM:617769
HP:0001251	Ataxia	9897	WASHC5	ORPHA:100989
HP:0001251	Ataxia	7852	CXCR4	ORPHA:51636
HP:0001251	Ataxia	51271	UBAP1	OMIM:618418
HP:0001251	Ataxia	51271	UBAP1	ORPHA:100993
HP:0001251	Ataxia	58494	JAM2	OMIM:618824
HP:0001251	Ataxia	10463	SLC30A9	OMIM:617595
HP:0001251	Ataxia	6253	RTN2	ORPHA:100993
HP:0001251	Ataxia	1183	CLCN4	OMIM:300114
HP:0001251	Ataxia	1183	CLCN4	ORPHA:485350
HP:0001251	Ataxia	23446	SLC44A1	OMIM:618868
HP:0001251	Ataxia	7415	VCP	ORPHA:275872
HP:0001251	Ataxia	23435	TARDBP	ORPHA:275872
HP:0001251	Ataxia	29110	TBK1	ORPHA:275872
HP:0001251	Ataxia	55967	NDUFA12	ORPHA:255241
HP:0001251	Ataxia	51204	TACO1	ORPHA:255241
HP:0001251	Ataxia	100131801	PET100	ORPHA:255241
HP:0001251	Ataxia	1355	COX15	ORPHA:255241
HP:0001251	Ataxia	1892	ECHS1	ORPHA:255241
HP:0001251	Ataxia	4705	NDUFA10	ORPHA:255241
HP:0001251	Ataxia	51601	LIPT1	ORPHA:255241
HP:0001251	Ataxia	4695	NDUFA2	ORPHA:255241
HP:0001251	Ataxia	4704	NDUFA9	ORPHA:255241
HP:0001251	Ataxia	23545	ATP6V0A2	ORPHA:2834
HP:0001251	Ataxia	2744	GLS	OMIM:618412
HP:0001251	Ataxia	8622	PDE8B	ORPHA:228169
HP:0001251	Ataxia	8622	PDE8B	OMIM:609161
HP:0001251	Ataxia	51324	SPG21	OMIM:248900
HP:0001251	Ataxia	2678	GGT1	OMIM:231950
HP:0001251	Ataxia	6575	SLC20A2	OMIM:213600
HP:0001251	Ataxia	5159	PDGFRB	OMIM:213600
HP:0001251	Ataxia	1203	CLN5	ORPHA:228360
HP:0001251	Ataxia	10128	LRPPRC	OMIM:220111
HP:0001251	Ataxia	773	CACNA1A	OMIM:183086
HP:0001251	Ataxia	4287	ATXN3	OMIM:109150
HP:0001251	Ataxia	10466	COG5	ORPHA:263487
HP:0001251	Ataxia	10466	COG5	OMIM:613612
HP:0001251	Ataxia	1173	AP2M1	OMIM:618587
HP:0001251	Ataxia	4574	MT-TS1	OMIM:220110
HP:0001251	Ataxia	4570	MT-TN	OMIM:220110
HP:0001251	Ataxia	6834	SURF1	OMIM:220110
HP:0001251	Ataxia	9420	CYP7B1	ORPHA:100986
HP:0001251	Ataxia	55532	SLC30A10	ORPHA:309854
HP:0001251	Ataxia	124997	WDR81	OMIM:610185
HP:0001251	Ataxia	2895	GRID2	OMIM:616204
HP:0001251	Ataxia	2895	GRID2	ORPHA:363432
HP:0001251	Ataxia	60684	TRAPPC11	OMIM:615356
HP:0001251	Ataxia	60684	TRAPPC11	ORPHA:369840
HP:0001251	Ataxia	60684	TRAPPC11	ORPHA:369847
HP:0001251	Ataxia	57704	GBA2	ORPHA:352641
HP:0001251	Ataxia	57704	GBA2	ORPHA:320391
HP:0001251	Ataxia	785	CACNB4	OMIM:613855
HP:0001251	Ataxia	785	CACNB4	OMIM:607682
HP:0001251	Ataxia	785	CACNB4	ORPHA:211067
HP:0001251	Ataxia	5428	POLG	OMIM:258450
HP:0001251	Ataxia	85300	ATCAY	ORPHA:94122
HP:0001251	Ataxia	85300	ATCAY	OMIM:601238
HP:0001251	Ataxia	6712	SPTBN2	ORPHA:352403
HP:0001251	Ataxia	10479	SLC9A6	OMIM:300243
HP:0001251	Ataxia	10479	SLC9A6	ORPHA:85278
HP:0001251	Ataxia	26275	HIBCH	ORPHA:88639
HP:0001251	Ataxia	26275	HIBCH	OMIM:250620
HP:0001251	Ataxia	478	ATP1A3	OMIM:601338
HP:0001251	Ataxia	10528	NOP56	OMIM:614153
HP:0001251	Ataxia	10528	NOP56	ORPHA:276198
HP:0001251	Ataxia	10273	STUB1	OMIM:615768
HP:0001251	Ataxia	10273	STUB1	ORPHA:412057
HP:0001251	Ataxia	5610	EIF2AK2	OMIM:618877
HP:0001251	Ataxia	6507	SLC1A3	OMIM:612656
HP:0001251	Ataxia	154881	KCTD7	OMIM:611726
HP:0001251	Ataxia	10166	SLC25A15	OMIM:238970
HP:0001251	Ataxia	1340	COX6B1	OMIM:619051
HP:0001251	Ataxia	146057	TTBK2	OMIM:604432
HP:0001251	Ataxia	9289	ADGRG1	OMIM:606854
HP:0001251	Ataxia	1600	DAB1	ORPHA:363710
HP:0001251	Ataxia	55154	MSTO1	OMIM:617675
HP:0001251	Ataxia	7436	VLDLR	OMIM:224050
HP:0001251	Ataxia	267010	RNU12	OMIM:620208
HP:0001251	Ataxia	55157	DARS2	ORPHA:137898
HP:0001251	Ataxia	51079	NDUFA13	OMIM:618249
HP:0001251	Ataxia	7276	TTR	OMIM:105210
HP:0001251	Ataxia	55187	VPS13D	ORPHA:95434
HP:0001251	Ataxia	27072	VPS41	ORPHA:95434
HP:0001251	Ataxia	215	ABCD1	OMIM:300100
HP:0001251	Ataxia	10715	CERS1	OMIM:616230
HP:0001251	Ataxia	84504	NKX6-2	OMIM:617560
HP:0001251	Ataxia	51761	ATP8A2	OMIM:615268
HP:0001251	Ataxia	54840	APTX	OMIM:208920
HP:0001251	Ataxia	27010	TPK1	OMIM:614458
HP:0001251	Ataxia	492	ATP2B3	ORPHA:314978
HP:0001251	Ataxia	113278	SLC52A3	OMIM:211530
HP:0001251	Ataxia	5192	PEX10	ORPHA:247815
HP:0001251	Ataxia	3752	KCND3	ORPHA:98772
HP:0001251	Ataxia	3752	KCND3	OMIM:607346
HP:0001251	Ataxia	1938	EEF2	OMIM:609306
HP:0001251	Ataxia	1938	EEF2	ORPHA:101112
HP:0001251	Ataxia	253738	EBF3	OMIM:617330
HP:0001251	Ataxia	339983	NAT8L	OMIM:614063
HP:0001251	Ataxia	55280	CWF19L1	OMIM:616127
HP:0001251	Ataxia	55280	CWF19L1	ORPHA:453521
HP:0001251	Ataxia	131669	UROC1	OMIM:276880
HP:0001251	Ataxia	131669	UROC1	ORPHA:210128
HP:0001251	Ataxia	255928	SYT14	OMIM:614229
HP:0001251	Ataxia	255928	SYT14	ORPHA:284271
HP:0001251	Ataxia	3035	HARS1	OMIM:614504
HP:0001251	Ataxia	11128	POLR3A	OMIM:264090
HP:0001251	Ataxia	11128	POLR3A	ORPHA:3455
HP:0001251	Ataxia	2259	FGF14	ORPHA:98764
HP:0001251	Ataxia	83475	DOHH	OMIM:620066
HP:0001251	Ataxia	1822	ATN1	ORPHA:101
HP:0001251	Ataxia	22983	MAST1	OMIM:618273
HP:0001251	Ataxia	6472	SHMT2	OMIM:619121
HP:0001251	Ataxia	53335	BCL11A	OMIM:617101
HP:0001251	Ataxia	9474	ATG5	OMIM:617584
HP:0001251	Ataxia	84919	PPP1R15B	OMIM:616817
HP:0001251	Ataxia	3708	ITPR1	OMIM:606658
HP:0001251	Ataxia	55129	ANO10	ORPHA:284289
HP:0001251	Ataxia	55129	ANO10	OMIM:613728
HP:0001251	Ataxia	5621	PRNP	OMIM:137440
HP:0001251	Ataxia	6389	SDHA	OMIM:619259
HP:0001251	Ataxia	6389	SDHA	OMIM:252011
HP:0001251	Ataxia	200403	VWA3B	OMIM:616948
HP:0001251	Ataxia	153241	CEP120	OMIM:617761
HP:0001251	Ataxia	4204	MECP2	OMIM:312750
HP:0001251	Ataxia	5277	PIGA	OMIM:301072
HP:0001251	Ataxia	4976	OPA1	OMIM:210000
HP:0001251	Ataxia	6310	ATXN1	OMIM:164400
HP:0001251	Ataxia	3736	KCNA1	OMIM:160120
HP:0001251	Ataxia	3736	KCNA1	ORPHA:1934
HP:0001251	Ataxia	6326	SCN2A	OMIM:618924
HP:0001251	Ataxia	6326	SCN2A	ORPHA:1934
HP:0001251	Ataxia	340024	SLC6A19	OMIM:234500
HP:0001251	Ataxia	5009	OTC	OMIM:311250
HP:0001251	Ataxia	4784	NFIX	ORPHA:420179
HP:0001251	Ataxia	6513	SLC2A1	OMIM:601042
HP:0001251	Ataxia	6513	SLC2A1	ORPHA:53583
HP:0001251	Ataxia	5160	PDHA1	OMIM:312170
HP:0001251	Ataxia	6792	CDKL5	ORPHA:1934
HP:0001251	Ataxia	9091	PIGQ	ORPHA:1934
HP:0001251	Ataxia	2775	GNAO1	ORPHA:1934
HP:0001251	Ataxia	81603	TRIM8	ORPHA:1934
HP:0001251	Ataxia	2902	GRIN1	ORPHA:1934
HP:0001251	Ataxia	79751	SLC25A22	ORPHA:1934
HP:0001251	Ataxia	150094	SIK1	ORPHA:1934
HP:0001251	Ataxia	8573	CASK	ORPHA:1934
HP:0001251	Ataxia	23312	DMXL2	ORPHA:1934
HP:0001251	Ataxia	2917	GRM7	ORPHA:1934
HP:0001251	Ataxia	170302	ARX	ORPHA:1934
HP:0001251	Ataxia	11284	PNKP	ORPHA:1934
HP:0001251	Ataxia	51227	PIGP	ORPHA:1934
HP:0001251	Ataxia	6324	SCN1B	ORPHA:1934
HP:0001251	Ataxia	4761	NEUROD2	ORPHA:1934
HP:0001251	Ataxia	133686	NADK2	ORPHA:431361
HP:0001251	Ataxia	131118	DNAJC19	OMIM:610198
HP:0001251	Ataxia	55691	FRMD4A	ORPHA:466688
HP:0001251	Ataxia	56978	PRDM8	OMIM:616640
HP:0001251	Ataxia	55149	MTPAP	OMIM:613672
HP:0001251	Ataxia	10381	TUBB3	ORPHA:300570
HP:0001251	Ataxia	4038	LRP4	OMIM:614305
HP:0001251	Ataxia	54834	GDAP2	OMIM:618369
HP:0001251	Ataxia	6843	VAMP1	OMIM:108600
HP:0001251	Ataxia	6843	VAMP1	ORPHA:251282
HP:0001251	Ataxia	27249	MMADHC	OMIM:277410
HP:0001251	Ataxia	26115	TANC2	OMIM:618906
HP:0001251	Ataxia	6905	TBCE	ORPHA:496756
HP:0001251	Ataxia	498	ATP5F1A	OMIM:620358
HP:0001251	Ataxia	51218	GLRX5	OMIM:616859
HP:0001251	Ataxia	2554	GABRA1	ORPHA:33069
HP:0001251	Ataxia	57526	PCDH19	ORPHA:33069
HP:0001251	Ataxia	4763	NF1	ORPHA:363700
HP:0002515	Waddling gait	58	ACTA1	ORPHA:97240
HP:0002515	Waddling gait	58	ACTA1	ORPHA:97244
HP:0002515	Waddling gait	58	ACTA1	ORPHA:171436
HP:0002515	Waddling gait	58	ACTA1	OMIM:161800
HP:0002515	Waddling gait	58	ACTA1	ORPHA:171439
HP:0002515	Waddling gait	274	BIN1	ORPHA:169186
HP:0002515	Waddling gait	274	BIN1	OMIM:255200
HP:0002515	Waddling gait	10290	SPEG	ORPHA:169186
HP:0002515	Waddling gait	6261	RYR1	ORPHA:169186
HP:0002515	Waddling gait	7273	TTN	ORPHA:169186
HP:0002515	Waddling gait	7528	YY1	ORPHA:506358
HP:0002515	Waddling gait	7528	YY1	OMIM:617557
HP:0002515	Waddling gait	57190	SELENON	ORPHA:97244
HP:0002515	Waddling gait	54808	DYM	OMIM:607326
HP:0002515	Waddling gait	54808	DYM	OMIM:223800
HP:0002515	Waddling gait	91452	ACBD5	OMIM:618863
HP:0002515	Waddling gait	127833	SYT2	OMIM:616040
HP:0002515	Waddling gait	127833	SYT2	ORPHA:98914
HP:0002515	Waddling gait	1778	DYNC1H1	OMIM:158600
HP:0002515	Waddling gait	1778	DYNC1H1	OMIM:614563
HP:0002515	Waddling gait	8838	CCN6	OMIM:208230
HP:0002515	Waddling gait	8838	CCN6	ORPHA:1159
HP:0002515	Waddling gait	60684	TRAPPC11	OMIM:615356
HP:0002515	Waddling gait	60684	TRAPPC11	ORPHA:369840
HP:0002515	Waddling gait	6606	SMN1	OMIM:271150
HP:0002515	Waddling gait	1756	DMD	OMIM:310200
HP:0002515	Waddling gait	1756	DMD	ORPHA:98896
HP:0002515	Waddling gait	7109	TRAPPC10	OMIM:620027
HP:0002515	Waddling gait	4703	NEB	OMIM:256030
HP:0002515	Waddling gait	4703	NEB	ORPHA:171436
HP:0002515	Waddling gait	4703	NEB	ORPHA:171439
HP:0002515	Waddling gait	59341	TRPV4	ORPHA:93314
HP:0002515	Waddling gait	59341	TRPV4	OMIM:184252
HP:0002515	Waddling gait	10049	DNAJB6	OMIM:603511
HP:0002515	Waddling gait	1120	CHKB	OMIM:602541
HP:0002515	Waddling gait	7169	TPM2	ORPHA:171436
HP:0002515	Waddling gait	7169	TPM2	OMIM:609285
HP:0002515	Waddling gait	7169	TPM2	ORPHA:171439
HP:0002515	Waddling gait	10324	KLHL41	ORPHA:171436
HP:0002515	Waddling gait	10324	KLHL41	ORPHA:171439
HP:0002515	Waddling gait	56203	LMOD3	ORPHA:171436
HP:0002515	Waddling gait	1073	CFL2	ORPHA:171436
HP:0002515	Waddling gait	1073	CFL2	OMIM:610687
HP:0002515	Waddling gait	1836	SLC26A2	ORPHA:93307
HP:0002515	Waddling gait	1311	COMP	ORPHA:93308
HP:0002515	Waddling gait	1311	COMP	OMIM:132400
HP:0002515	Waddling gait	1311	COMP	ORPHA:750
HP:0002515	Waddling gait	1311	COMP	OMIM:177170
HP:0002515	Waddling gait	55033	FKBP14	OMIM:614557
HP:0002515	Waddling gait	9200	HACD1	OMIM:619967
HP:0002515	Waddling gait	22954	TRIM32	ORPHA:1878
HP:0002515	Waddling gait	22954	TRIM32	OMIM:254110
HP:0002515	Waddling gait	54344	DPM3	OMIM:612937
HP:0002515	Waddling gait	79147	FKRP	OMIM:607155
HP:0002515	Waddling gait	79147	FKRP	ORPHA:34515
HP:0002515	Waddling gait	1297	COL9A1	ORPHA:166002
HP:0002515	Waddling gait	1298	COL9A2	ORPHA:166002
HP:0002515	Waddling gait	1298	COL9A2	OMIM:600204
HP:0002515	Waddling gait	1299	COL9A3	ORPHA:166002
HP:0002515	Waddling gait	3417	IDH1	ORPHA:99646
HP:0002515	Waddling gait	29925	GMPPB	ORPHA:353327
HP:0002515	Waddling gait	2673	GFPT1	ORPHA:353327
HP:0002515	Waddling gait	2673	GFPT1	OMIM:610542
HP:0002515	Waddling gait	1798	DPAGT1	ORPHA:353327
HP:0002515	Waddling gait	85365	ALG2	ORPHA:353327
HP:0002515	Waddling gait	85365	ALG2	OMIM:616228
HP:0002515	Waddling gait	199857	ALG14	ORPHA:353327
HP:0002515	Waddling gait	7125	TNNC2	OMIM:620161
HP:0002515	Waddling gait	64135	IFIH1	OMIM:182250
HP:0002515	Waddling gait	4148	MATN3	ORPHA:156728
HP:0002515	Waddling gait	4148	MATN3	OMIM:608728
HP:0002515	Waddling gait	1300	COL10A1	ORPHA:174
HP:0002515	Waddling gait	1300	COL10A1	OMIM:156500
HP:0002515	Waddling gait	2273	FHL1	OMIM:300695
HP:0002515	Waddling gait	2273	FHL1	OMIM:300280
HP:0002515	Waddling gait	2273	FHL1	ORPHA:98863
HP:0002515	Waddling gait	9469	CHST3	ORPHA:263463
HP:0002515	Waddling gait	9469	CHST3	OMIM:143095
HP:0002515	Waddling gait	1280	COL2A1	OMIM:616583
HP:0002515	Waddling gait	1280	COL2A1	OMIM:609162
HP:0002515	Waddling gait	1280	COL2A1	ORPHA:94068
HP:0002515	Waddling gait	1280	COL2A1	OMIM:183900
HP:0002515	Waddling gait	1280	COL2A1	OMIM:184255
HP:0002515	Waddling gait	1280	COL2A1	ORPHA:166011
HP:0002515	Waddling gait	7040	TGFB1	OMIM:131300
HP:0002515	Waddling gait	7040	TGFB1	ORPHA:1328
HP:0002515	Waddling gait	9581	PREPL	OMIM:616224
HP:0002515	Waddling gait	4625	MYH7	OMIM:608358
HP:0002515	Waddling gait	2010	EMD	OMIM:310300
HP:0002515	Waddling gait	2010	EMD	ORPHA:98863
HP:0002515	Waddling gait	176	ACAN	OMIM:165800
HP:0002515	Waddling gait	25778	DSTYK	ORPHA:101003
HP:0002515	Waddling gait	9241	NOG	OMIM:186500
HP:0002515	Waddling gait	4620	MYH2	OMIM:605637
HP:0002515	Waddling gait	112812	FDX2	OMIM:251900
HP:0002515	Waddling gait	57531	HACE1	ORPHA:464282
HP:0002515	Waddling gait	57531	HACE1	OMIM:616756
HP:0002515	Waddling gait	6687	SPG7	OMIM:607259
HP:0002515	Waddling gait	1605	DAG1	ORPHA:280333
HP:0002515	Waddling gait	633	BGN	OMIM:300106
HP:0002515	Waddling gait	4041	LRP5	ORPHA:2788
HP:0002515	Waddling gait	57449	PLEKHG5	OMIM:611067
HP:0002515	Waddling gait	3908	LAMA2	OMIM:618138
HP:0002515	Waddling gait	121512	FGD4	OMIM:609311
HP:0002515	Waddling gait	8425	LTBP4	ORPHA:98896
HP:0002515	Waddling gait	2335	FN1	OMIM:184255
HP:0002515	Waddling gait	6445	SGCG	ORPHA:353
HP:0002515	Waddling gait	4322	MMP13	OMIM:602111
HP:0002515	Waddling gait	4322	MMP13	OMIM:250400
HP:0002515	Waddling gait	23299	BICD2	ORPHA:363454
HP:0002515	Waddling gait	23299	BICD2	OMIM:615290
HP:0002515	Waddling gait	10717	AP4B1	OMIM:614066
HP:0002515	Waddling gait	10717	AP4B1	ORPHA:280763
HP:0002515	Waddling gait	388662	SLC6A17	ORPHA:457212
HP:0002515	Waddling gait	388662	SLC6A17	OMIM:616269
HP:0002515	Waddling gait	203859	ANO5	ORPHA:399096
HP:0002515	Waddling gait	23126	POGZ	OMIM:616364
HP:0002515	Waddling gait	2588	GALNS	OMIM:253000
HP:0002515	Waddling gait	55325	UFSP2	OMIM:617974
HP:0002515	Waddling gait	84665	MYPN	OMIM:617336
HP:0002515	Waddling gait	84665	MYPN	ORPHA:171439
HP:0002515	Waddling gait	4744	NEFH	OMIM:616924
HP:0002515	Waddling gait	6442	SGCA	ORPHA:62
HP:0002515	Waddling gait	8720	MBTPS1	OMIM:618392
HP:0002515	Waddling gait	10585	POMT1	ORPHA:86812
HP:0002515	Waddling gait	60482	SLC5A7	ORPHA:98914
HP:0002515	Waddling gait	4649	MYO9A	ORPHA:98914
HP:0002515	Waddling gait	1305	COL13A1	ORPHA:98914
HP:0002515	Waddling gait	1103	CHAT	ORPHA:98914
HP:0002515	Waddling gait	6576	SLC25A1	ORPHA:98914
HP:0002515	Waddling gait	6843	VAMP1	ORPHA:98914
HP:0002515	Waddling gait	375790	AGRN	ORPHA:98914
HP:0002515	Waddling gait	6572	SLC18A3	ORPHA:98914
HP:0002515	Waddling gait	6616	SNAP25	ORPHA:98914
HP:0002515	Waddling gait	8292	COLQ	ORPHA:98915
HP:0002515	Waddling gait	3913	LAMB2	ORPHA:98915
HP:0002515	Waddling gait	50485	SMARCAL1	OMIM:242900
HP:0002515	Waddling gait	10522	DEAF1	ORPHA:468620
HP:0002515	Waddling gait	1303	COL12A1	ORPHA:610
HP:0002515	Waddling gait	1291	COL6A1	ORPHA:610
HP:0002515	Waddling gait	1292	COL6A2	ORPHA:610
HP:0002515	Waddling gait	1293	COL6A3	ORPHA:610
HP:0002515	Waddling gait	124583	CANT1	OMIM:251450
HP:0002515	Waddling gait	3178	HNRNPA1	ORPHA:52430
HP:0002515	Waddling gait	7415	VCP	ORPHA:52430
HP:0002515	Waddling gait	3181	HNRNPA2B1	ORPHA:52430
HP:0002515	Waddling gait	9179	AP4M1	ORPHA:280763
HP:0002515	Waddling gait	11154	AP4S1	ORPHA:280763
HP:0002515	Waddling gait	23431	AP4E1	ORPHA:280763
HP:0002515	Waddling gait	22880	MORC2	OMIM:619090
HP:0002515	Waddling gait	427	ASAH1	ORPHA:2590
HP:0002515	Waddling gait	5745	PTH1R	OMIM:156400
HP:0002515	Waddling gait	142680	SLC34A3	ORPHA:157215
HP:0002515	Waddling gait	6569	SLC34A1	ORPHA:157215
HP:0002515	Waddling gait	249	ALPL	OMIM:241510
HP:0002515	Waddling gait	390594	KBTBD13	ORPHA:171439
HP:0002515	Waddling gait	7170	TPM3	ORPHA:171439
HP:0002515	Waddling gait	2318	FLNC	OMIM:609524
HP:0002515	Waddling gait	3339	HSPG2	OMIM:255800
HP:0002515	Waddling gait	4747	NEFL	OMIM:617882
HP:0002515	Waddling gait	51776	MAP3K20	OMIM:617760
HP:0002515	Waddling gait	91252	SLC39A13	OMIM:612350
HP:0002515	Waddling gait	4000	LMNA	ORPHA:98855
HP:0002515	Waddling gait	4000	LMNA	ORPHA:98853
HP:0002515	Waddling gait	6443	SGCB	ORPHA:119
HP:0002515	Waddling gait	25886	POC1A	OMIM:614813
HP:0002515	Waddling gait	285489	DOK7	OMIM:254300
HP:0002515	Waddling gait	79188	TMEM43	ORPHA:98853
HP:0002515	Waddling gait	23345	SYNE1	ORPHA:98853
HP:0002515	Waddling gait	23224	SYNE2	ORPHA:98853
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:794
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:35093
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:35099
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:794
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:93260
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:207
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:93259
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:794
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:53271
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:93262
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:35099
HP:0002516	Increased intracranial pressure	50964	SOST	OMIM:269500
HP:0002516	Increased intracranial pressure	50964	SOST	OMIM:122860
HP:0002516	Increased intracranial pressure	26160	IFT172	OMIM:619471
HP:0002516	Increased intracranial pressure	2077	ERF	OMIM:600775
HP:0002516	Increased intracranial pressure	2077	ERF	ORPHA:207
HP:0002516	Increased intracranial pressure	2077	ERF	ORPHA:35093
HP:0002516	Increased intracranial pressure	4041	LRP5	ORPHA:178377
HP:0002516	Increased intracranial pressure	2584	GALK1	OMIM:230200
HP:0002516	Increased intracranial pressure	324	APC	ORPHA:99818
HP:0002516	Increased intracranial pressure	8314	BAP1	ORPHA:2495
HP:0002516	Increased intracranial pressure	4771	NF2	ORPHA:2495
HP:0002516	Increased intracranial pressure	6598	SMARCB1	ORPHA:2495
HP:0002516	Increased intracranial pressure	5155	PDGFB	ORPHA:2495
HP:0002516	Increased intracranial pressure	84231	TRAF7	ORPHA:2495
HP:0002516	Increased intracranial pressure	6608	SMO	ORPHA:2495
HP:0002516	Increased intracranial pressure	207	AKT1	ORPHA:2495
HP:0002516	Increased intracranial pressure	207	AKT1	ORPHA:201
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:2495
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:144
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:201
HP:0002516	Increased intracranial pressure	7015	TERT	ORPHA:2495
HP:0002516	Increased intracranial pressure	51684	SUFU	ORPHA:2495
HP:0002516	Increased intracranial pressure	6605	SMARCE1	ORPHA:2495
HP:0002516	Increased intracranial pressure	2767	GNA11	ORPHA:428
HP:0002516	Increased intracranial pressure	846	CASR	ORPHA:428
HP:0002516	Increased intracranial pressure	4072	EPCAM	ORPHA:144
HP:0002516	Increased intracranial pressure	4292	MLH1	ORPHA:144
HP:0002516	Increased intracranial pressure	5395	PMS2	ORPHA:144
HP:0002516	Increased intracranial pressure	27030	MLH3	ORPHA:144
HP:0002516	Increased intracranial pressure	22909	FAN1	ORPHA:144
HP:0002516	Increased intracranial pressure	7048	TGFBR2	ORPHA:144
HP:0002516	Increased intracranial pressure	3845	KRAS	ORPHA:144
HP:0002516	Increased intracranial pressure	2956	MSH6	ORPHA:144
HP:0002516	Increased intracranial pressure	5378	PMS1	ORPHA:144
HP:0002516	Increased intracranial pressure	4436	MSH2	ORPHA:144
HP:0002516	Increased intracranial pressure	5551	PRF1	OMIM:603553
HP:0002516	Increased intracranial pressure	79848	CSPP1	ORPHA:397715
HP:0002516	Increased intracranial pressure	9786	KIAA0586	ORPHA:397715
HP:0002516	Increased intracranial pressure	11235	PDCD10	ORPHA:221061
HP:0002516	Increased intracranial pressure	83605	CCM2	ORPHA:221061
HP:0002516	Increased intracranial pressure	889	KRIT1	ORPHA:221061
HP:0002516	Increased intracranial pressure	64218	SEMA4A	ORPHA:440437
HP:0002516	Increased intracranial pressure	657	BMPR1A	ORPHA:440437
HP:0002516	Increased intracranial pressure	6224	RPS20	ORPHA:440437
HP:0002516	Increased intracranial pressure	3662	IRF4	ORPHA:3452
HP:0002516	Increased intracranial pressure	7428	VHL	ORPHA:892
HP:0002516	Increased intracranial pressure	595	CCND1	ORPHA:892
HP:0002516	Increased intracranial pressure	22943	DKK1	ORPHA:268882
HP:0002516	Increased intracranial pressure	727676	SNORD118	ORPHA:542310
HP:0002516	Increased intracranial pressure	63916	ELMO2	OMIM:606893
HP:0002516	Increased intracranial pressure	2581	GALC	ORPHA:206436
HP:0002516	Increased intracranial pressure	5660	PSAP	ORPHA:206436
HP:0002516	Increased intracranial pressure	5573	PRKAR1A	ORPHA:280651
HP:0002516	Increased intracranial pressure	5144	PDE4D	ORPHA:280651
HP:0002516	Increased intracranial pressure	5144	PDE4D	ORPHA:439822
HP:0002516	Increased intracranial pressure	5144	PDE4D	OMIM:614613
HP:0002516	Increased intracranial pressure	1513	CTSK	ORPHA:763
HP:0002516	Increased intracranial pressure	10483	SEC23B	ORPHA:201
HP:0002516	Increased intracranial pressure	5728	PTEN	ORPHA:201
HP:0002516	Increased intracranial pressure	5728	PTEN	ORPHA:65285
HP:0002516	Increased intracranial pressure	6390	SDHB	ORPHA:201
HP:0002516	Increased intracranial pressure	6392	SDHD	ORPHA:201
HP:0002516	Increased intracranial pressure	6391	SDHC	ORPHA:201
HP:0002516	Increased intracranial pressure	205717	USF3	ORPHA:201
HP:0002516	Increased intracranial pressure	100144748	KLLN	ORPHA:201
HP:0002516	Increased intracranial pressure	3897	L1CAM	ORPHA:2182
HP:0002516	Increased intracranial pressure	114548	NLRP3	ORPHA:1451
HP:0002516	Increased intracranial pressure	60529	ALX4	ORPHA:35093
HP:0002516	Increased intracranial pressure	84168	ANTXR1	ORPHA:2067
HP:0002516	Increased intracranial pressure	149233	IL23R	ORPHA:117
HP:0002516	Increased intracranial pressure	6775	STAT4	ORPHA:117
HP:0002516	Increased intracranial pressure	3586	IL10	ORPHA:117
HP:0002516	Increased intracranial pressure	4210	MEFV	ORPHA:117
HP:0002516	Increased intracranial pressure	1230	CCR1	ORPHA:117
HP:0002516	Increased intracranial pressure	355	FAS	ORPHA:117
HP:0002516	Increased intracranial pressure	3592	IL12A	ORPHA:117
HP:0002516	Increased intracranial pressure	101928376	IL12A-AS1	ORPHA:117
HP:0002516	Increased intracranial pressure	3106	HLA-B	ORPHA:117
HP:0002516	Increased intracranial pressure	7099	TLR4	ORPHA:117
HP:0002516	Increased intracranial pressure	3459	IFNGR1	ORPHA:117
HP:0002516	Increased intracranial pressure	720	C4A	ORPHA:117
HP:0002516	Increased intracranial pressure	337867	UBAC2	ORPHA:117
HP:0002516	Increased intracranial pressure	51752	ERAP1	ORPHA:117
HP:0002516	Increased intracranial pressure	8302	KLRC4	ORPHA:117
HP:0002516	Increased intracranial pressure	1499	CTNNB1	ORPHA:54595
HP:0002516	Increased intracranial pressure	673	BRAF	ORPHA:54595
HP:0002516	Increased intracranial pressure	6938	TCF12	ORPHA:35099
HP:0002516	Increased intracranial pressure	7545	ZIC1	ORPHA:35099
HP:0002518	Abnormal periventricular white matter morphology	4524	MTHFR	ORPHA:395
HP:0002518	Abnormal periventricular white matter morphology	10717	AP4B1	OMIM:614066
HP:0002518	Abnormal periventricular white matter morphology	10717	AP4B1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	11277	TREX1	OMIM:192315
HP:0002518	Abnormal periventricular white matter morphology	51501	HIKESHI	OMIM:616881
HP:0002518	Abnormal periventricular white matter morphology	998	CDC42	ORPHA:487796
HP:0002518	Abnormal periventricular white matter morphology	998	CDC42	OMIM:616737
HP:0002518	Abnormal periventricular white matter morphology	55823	VPS11	ORPHA:466934
HP:0002518	Abnormal periventricular white matter morphology	1593	CYP27A1	OMIM:213700
HP:0002518	Abnormal periventricular white matter morphology	8818	DPM2	ORPHA:329178
HP:0002518	Abnormal periventricular white matter morphology	51091	SEPSECS	OMIM:613811
HP:0002518	Abnormal periventricular white matter morphology	81570	CLPB	OMIM:619835
HP:0002518	Abnormal periventricular white matter morphology	90624	LYRM7	OMIM:615838
HP:0002518	Abnormal periventricular white matter morphology	85358	SHANK3	OMIM:606232
HP:0002518	Abnormal periventricular white matter morphology	25914	RTTN	ORPHA:468631
HP:0002518	Abnormal periventricular white matter morphology	285362	SUMF1	OMIM:272200
HP:0002518	Abnormal periventricular white matter morphology	79783	SUGCT	ORPHA:35706
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	OMIM:249900
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	OMIM:611721
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	ORPHA:206436
HP:0002518	Abnormal periventricular white matter morphology	54344	DPM3	OMIM:618992
HP:0002518	Abnormal periventricular white matter morphology	122961	ISCA2	OMIM:616370
HP:0002518	Abnormal periventricular white matter morphology	55159	RFWD3	OMIM:617784
HP:0002518	Abnormal periventricular white matter morphology	4010	LMX1B	ORPHA:495818
HP:0002518	Abnormal periventricular white matter morphology	6812	STXBP1	ORPHA:495818
HP:0002518	Abnormal periventricular white matter morphology	284217	LAMA1	OMIM:615960
HP:0002518	Abnormal periventricular white matter morphology	271	AMPD2	OMIM:615686
HP:0002518	Abnormal periventricular white matter morphology	271	AMPD2	ORPHA:401805
HP:0002518	Abnormal periventricular white matter morphology	23400	ATP13A2	OMIM:617225
HP:0002518	Abnormal periventricular white matter morphology	23400	ATP13A2	ORPHA:513436
HP:0002518	Abnormal periventricular white matter morphology	3781	KCNN2	OMIM:619725
HP:0002518	Abnormal periventricular white matter morphology	9215	LARGE1	OMIM:608840
HP:0002518	Abnormal periventricular white matter morphology	9215	LARGE1	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	80208	SPG11	OMIM:604360
HP:0002518	Abnormal periventricular white matter morphology	29925	GMPPB	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	79147	FKRP	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	29954	POMT2	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	10585	POMT1	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	10059	DNM1L	ORPHA:98673
HP:0002518	Abnormal periventricular white matter morphology	4976	OPA1	ORPHA:98673
HP:0002518	Abnormal periventricular white matter morphology	9179	AP4M1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	11154	AP4S1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	23431	AP4E1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	6748	SSR4	ORPHA:370927
HP:0002518	Abnormal periventricular white matter morphology	215	ABCD1	ORPHA:139396
HP:0002518	Abnormal periventricular white matter morphology	7317	UBA1	ORPHA:1145
HP:0002518	Abnormal periventricular white matter morphology	5879	RAC1	ORPHA:500159
HP:0002518	Abnormal periventricular white matter morphology	1282	COL4A1	OMIM:611773
HP:0002518	Abnormal periventricular white matter morphology	93627	TBCK	OMIM:616900
HP:0002518	Abnormal periventricular white matter morphology	93627	TBCK	ORPHA:488632
HP:0002518	Abnormal periventricular white matter morphology	283989	TSEN54	OMIM:277470
HP:0002518	Abnormal periventricular white matter morphology	8560	DEGS1	OMIM:618404
HP:0002518	Abnormal periventricular white matter morphology	2581	GALC	ORPHA:206436
HP:0002518	Abnormal periventricular white matter morphology	5832	ALDH18A1	ORPHA:447760
HP:0002518	Abnormal periventricular white matter morphology	10352	WARS2	ORPHA:572798
HP:0002518	Abnormal periventricular white matter morphology	4208	MEF2C	OMIM:613443
HP:0002518	Abnormal periventricular white matter morphology	79152	FA2H	OMIM:612319
HP:0002518	Abnormal periventricular white matter morphology	760	CA2	ORPHA:2785
HP:0002518	Abnormal periventricular white matter morphology	54	ACP5	ORPHA:1855
HP:0002518	Abnormal periventricular white matter morphology	22827	PUF60	ORPHA:508498
HP:0002518	Abnormal periventricular white matter morphology	80267	EDEM3	OMIM:619493
HP:0002518	Abnormal periventricular white matter morphology	5091	PC	OMIM:266150
HP:0002518	Abnormal periventricular white matter morphology	4718	NDUFC2	OMIM:619170
HP:0002518	Abnormal periventricular white matter morphology	7874	USP7	ORPHA:500055
HP:0002518	Abnormal periventricular white matter morphology	55621	TRMT1	OMIM:618302
HP:0002518	Abnormal periventricular white matter morphology	197258	FCSK	OMIM:618324
HP:0002518	Abnormal periventricular white matter morphology	6651	SON	ORPHA:500150
HP:0002518	Abnormal periventricular white matter morphology	6651	SON	OMIM:617140
HP:0002518	Abnormal periventricular white matter morphology	79029	AFG2B	OMIM:619616
HP:0002518	Abnormal periventricular white matter morphology	57479	PRR12	OMIM:619539
HP:0002518	Abnormal periventricular white matter morphology	51002	TPRKB	OMIM:617731
HP:0002518	Abnormal periventricular white matter morphology	57514	ARHGAP31	OMIM:100300
HP:0002518	Abnormal periventricular white matter morphology	57514	ARHGAP31	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	4897	NRCAM	OMIM:619833
HP:0002518	Abnormal periventricular white matter morphology	1183	CLCN4	ORPHA:485350
HP:0002518	Abnormal periventricular white matter morphology	3098	HK1	OMIM:618547
HP:0002518	Abnormal periventricular white matter morphology	404672	GTF2H5	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	833	CARS1	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2068	ERCC2	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	7737	RNF113A	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	136647	MPLKIP	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	6897	TARS1	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2071	ERCC3	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2961	GTF2E2	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	9361	LONP1	ORPHA:79243
HP:0002518	Abnormal periventricular white matter morphology	5160	PDHA1	ORPHA:79243
HP:0002518	Abnormal periventricular white matter morphology	8496	PPFIBP1	OMIM:620024
HP:0002518	Abnormal periventricular white matter morphology	26047	CNTNAP2	ORPHA:163681
HP:0002518	Abnormal periventricular white matter morphology	2972	BRF1	ORPHA:444072
HP:0002518	Abnormal periventricular white matter morphology	8621	CDK13	OMIM:617360
HP:0002518	Abnormal periventricular white matter morphology	22880	MORC2	ORPHA:466768
HP:0002518	Abnormal periventricular white matter morphology	375387	NRROS	OMIM:618875
HP:0002518	Abnormal periventricular white matter morphology	57505	AARS2	OMIM:615889
HP:0002518	Abnormal periventricular white matter morphology	200424	TET3	OMIM:618798
HP:0002518	Abnormal periventricular white matter morphology	55753	OGDHL	OMIM:619701
HP:0002518	Abnormal periventricular white matter morphology	196528	ARID2	OMIM:617808
HP:0002518	Abnormal periventricular white matter morphology	3516	RBPJ	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	4851	NOTCH1	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	57572	DOCK6	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	285203	EOGT	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	54567	DLL4	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	387787	LIPT2	OMIM:617668
HP:0002518	Abnormal periventricular white matter morphology	4953	ODC1	OMIM:619075
HP:0002518	Abnormal periventricular white matter morphology	4953	ODC1	ORPHA:544488
HP:0002518	Abnormal periventricular white matter morphology	5162	PDHB	ORPHA:255138
HP:0002518	Abnormal periventricular white matter morphology	53834	FGFRL1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	1487	CTBP1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	3954	LETM1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	7468	NSD2	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	10815	CPLX1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	2670	GFAP	ORPHA:363722
HP:0002518	Abnormal periventricular white matter morphology	4952	OCRL	OMIM:309000
HP:0002518	Abnormal periventricular white matter morphology	8050	PDHX	ORPHA:255182
HP:0002518	Abnormal periventricular white matter morphology	790955	UQCC3	OMIM:616111
HP:0002518	Abnormal periventricular white matter morphology	2193	FARSA	OMIM:619013
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309271
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309263
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309256
HP:0002518	Abnormal periventricular white matter morphology	1267	CNP	OMIM:619071
HP:0002518	Abnormal periventricular white matter morphology	2760	GM2A	ORPHA:309246
HP:0002518	Abnormal periventricular white matter morphology	1203	CLN5	ORPHA:228360
HP:0002518	Abnormal periventricular white matter morphology	51324	SPG21	OMIM:248900
HP:0002518	Abnormal periventricular white matter morphology	84065	TMEM222	OMIM:619470
HP:0002518	Abnormal periventricular white matter morphology	7555	CNBP	OMIM:602668
HP:0002518	Abnormal periventricular white matter morphology	6134	RPL10	OMIM:300998
HP:0002518	Abnormal periventricular white matter morphology	5058	PAK1	OMIM:618158
HP:0002518	Abnormal periventricular white matter morphology	4761	NEUROD2	OMIM:618374
HP:0002518	Abnormal periventricular white matter morphology	23259	DDHD2	OMIM:615033
HP:0002518	Abnormal periventricular white matter morphology	23259	DDHD2	ORPHA:320380
HP:0002518	Abnormal periventricular white matter morphology	22866	CNKSR2	OMIM:301008
HP:0002518	Abnormal periventricular white matter morphology	9692	PRORP	OMIM:619737
HP:0002518	Abnormal periventricular white matter morphology	92335	STRADA	ORPHA:500533
HP:0002518	Abnormal periventricular white matter morphology	51412	ACTL6B	OMIM:618468
HP:0002518	Abnormal periventricular white matter morphology	25974	MMACHC	ORPHA:79282
HP:0002518	Abnormal periventricular white matter morphology	2783	GNB2	OMIM:619503
HP:0002518	Abnormal periventricular white matter morphology	7920	ABHD16A	OMIM:619735
HP:0002518	Abnormal periventricular white matter morphology	25782	RAB3GAP2	OMIM:212720
HP:0002518	Abnormal periventricular white matter morphology	85465	SELENOI	OMIM:618768
HP:0002518	Abnormal periventricular white matter morphology	59	ACTA2	OMIM:613834
HP:0002518	Abnormal periventricular white matter morphology	9907	AP5Z1	OMIM:613647
HP:0002518	Abnormal periventricular white matter morphology	80036	TRPM3	OMIM:620224
HP:0002518	Abnormal periventricular white matter morphology	10060	ABCC9	OMIM:619719
HP:0002519	Hypnagogic hallucinations	3060	HCRT	OMIM:161400
HP:0002519	Hypnagogic hallucinations	4340	MOG	OMIM:614250
HP:0002519	Hypnagogic hallucinations	1786	DNMT1	OMIM:604121
HP:0012730	Aglossia	5396	PRRX1	OMIM:202650
HP:0012731	Ectopic anterior pituitary gland	5626	PROP1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5626	PROP1	ORPHA:90695
HP:0012731	Ectopic anterior pituitary gland	2736	GLI2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	89884	LHX4	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	3170	FOXA2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5449	POU1F1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	8820	HESX1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5015	OTX2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	6658	SOX3	ORPHA:90695
HP:0012732	Anorectal anomaly	9361	LONP1	OMIM:600373
HP:0012732	Anorectal anomaly	92002	CCNQ	OMIM:300707
HP:0012732	Anorectal anomaly	8195	MKKS	OMIM:236700
HP:0012732	Anorectal anomaly	3588	IL10RB	OMIM:612567
HP:0012732	Anorectal anomaly	10653	SPINT2	OMIM:270420
HP:0012732	Anorectal anomaly	84172	POLR1B	ORPHA:861
HP:0012732	Anorectal anomaly	9533	POLR1C	ORPHA:861
HP:0012732	Anorectal anomaly	51082	POLR1D	ORPHA:861
HP:0012732	Anorectal anomaly	6949	TCOF1	ORPHA:861
HP:0012732	Anorectal anomaly	9401	RECQL4	OMIM:218600
HP:0012732	Anorectal anomaly	197131	UBR1	OMIM:243800
HP:0012732	Anorectal anomaly	267010	RNU12	OMIM:603116
HP:0012732	Anorectal anomaly	374654	KIF7	OMIM:200990
HP:0012732	Anorectal anomaly	51339	DACT1	OMIM:617466
HP:0012732	Anorectal anomaly	51339	DACT1	ORPHA:857
HP:0012732	Anorectal anomaly	1642	DDB1	OMIM:619426
HP:0012732	Anorectal anomaly	3718	JAK3	ORPHA:35078
HP:0012732	Anorectal anomaly	5297	PI4KA	OMIM:619708
HP:0012732	Anorectal anomaly	64840	PORCN	OMIM:305600
HP:0012732	Anorectal anomaly	10128	LRPPRC	OMIM:220111
HP:0012732	Anorectal anomaly	9791	PTDSS1	OMIM:151050
HP:0012732	Anorectal anomaly	5447	POR	OMIM:201750
HP:0012732	Anorectal anomaly	5447	POR	ORPHA:95699
HP:0012732	Anorectal anomaly	23512	SUZ12	OMIM:618786
HP:0012732	Anorectal anomaly	222546	RFX6	OMIM:615710
HP:0012732	Anorectal anomaly	1024	CDK8	OMIM:618748
HP:0012732	Anorectal anomaly	29957	SLC25A24	OMIM:612289
HP:0012732	Anorectal anomaly	22800	RRAS2	OMIM:618624
HP:0012732	Anorectal anomaly	1857	DVL3	OMIM:616894
HP:0012732	Anorectal anomaly	8942	KYNU	OMIM:617661
HP:0012732	Anorectal anomaly	28514	DLL1	ORPHA:280195
HP:0012732	Anorectal anomaly	2253	FGF8	ORPHA:280195
HP:0012732	Anorectal anomaly	6496	SIX3	ORPHA:280195
HP:0012732	Anorectal anomaly	7050	TGIF1	ORPHA:280195
HP:0012732	Anorectal anomaly	4838	NODAL	ORPHA:280195
HP:0012732	Anorectal anomaly	6469	SHH	ORPHA:280195
HP:0012732	Anorectal anomaly	7546	ZIC2	ORPHA:280195
HP:0012732	Anorectal anomaly	6491	STIL	ORPHA:280195
HP:0012732	Anorectal anomaly	2619	GAS1	ORPHA:280195
HP:0012732	Anorectal anomaly	84976	DISP1	ORPHA:280195
HP:0012732	Anorectal anomaly	2736	GLI2	ORPHA:280195
HP:0012732	Anorectal anomaly	8928	FOXH1	ORPHA:280195
HP:0012732	Anorectal anomaly	5727	PTCH1	ORPHA:280195
HP:0012732	Anorectal anomaly	50937	CDON	ORPHA:280195
HP:0012732	Anorectal anomaly	55650	PIGV	OMIM:239300
HP:0012732	Anorectal anomaly	55650	PIGV	ORPHA:247262
HP:0012732	Anorectal anomaly	4784	NFIX	OMIM:602535
HP:0012732	Anorectal anomaly	84992	PIGY	ORPHA:247262
HP:0012732	Anorectal anomaly	93210	PGAP3	ORPHA:247262
HP:0012732	Anorectal anomaly	284098	PIGW	ORPHA:247262
HP:0012732	Anorectal anomaly	9487	PIGL	ORPHA:247262
HP:0012732	Anorectal anomaly	1108	CHD4	OMIM:617159
HP:0012732	Anorectal anomaly	157570	ESCO2	ORPHA:2319
HP:0012732	Anorectal anomaly	157570	ESCO2	OMIM:216100
HP:0012732	Anorectal anomaly	37	ACADVL	ORPHA:26793
HP:0012732	Anorectal anomaly	1656	DDX6	OMIM:618653
HP:0012732	Anorectal anomaly	1822	ATN1	OMIM:618494
HP:0012732	Anorectal anomaly	26005	C2CD3	OMIM:615948
HP:0012732	Anorectal anomaly	26040	SETBP1	ORPHA:798
HP:0012732	Anorectal anomaly	2737	GLI3	ORPHA:672
HP:0012732	Anorectal anomaly	2737	GLI3	OMIM:146510
HP:0012732	Anorectal anomaly	2294	FOXF1	OMIM:265380
HP:0012732	Anorectal anomaly	2294	FOXF1	ORPHA:210122
HP:0012732	Anorectal anomaly	117581	TWIST2	OMIM:227260
HP:0012732	Anorectal anomaly	117581	TWIST2	ORPHA:1807
HP:0012732	Anorectal anomaly	145173	B3GLCT	ORPHA:709
HP:0012732	Anorectal anomaly	6650	CAPN15	OMIM:619318
HP:0012732	Anorectal anomaly	1131	CHRM3	ORPHA:2970
HP:0012732	Anorectal anomaly	1131	CHRM3	OMIM:100100
HP:0012732	Anorectal anomaly	7473	WNT3	ORPHA:3301
HP:0012732	Anorectal anomaly	7473	WNT3	OMIM:273395
HP:0012732	Anorectal anomaly	340419	RSPO2	ORPHA:3301
HP:0012732	Anorectal anomaly	81839	VANGL1	ORPHA:3027
HP:0012732	Anorectal anomaly	80199	FUZ	ORPHA:3027
HP:0012732	Anorectal anomaly	10084	PQBP1	ORPHA:93950
HP:0012732	Anorectal anomaly	10084	PQBP1	OMIM:309500
HP:0012732	Anorectal anomaly	55112	DYNC2I1	ORPHA:93271
HP:0012732	Anorectal anomaly	57560	IFT80	ORPHA:93271
HP:0012732	Anorectal anomaly	57539	WDR35	ORPHA:93271
HP:0012732	Anorectal anomaly	79659	DYNC2H1	ORPHA:93271
HP:0012732	Anorectal anomaly	79659	DYNC2H1	OMIM:613091
HP:0012732	Anorectal anomaly	89891	DYNC2I2	ORPHA:93271
HP:0012732	Anorectal anomaly	4281	MID1	OMIM:300000
HP:0012732	Anorectal anomaly	4281	MID1	ORPHA:2745
HP:0012732	Anorectal anomaly	2623	GATA1	OMIM:190685
HP:0012732	Anorectal anomaly	3313	HSPA9	OMIM:616854
HP:0012732	Anorectal anomaly	2137	EXTL3	OMIM:617425
HP:0012732	Anorectal anomaly	999	CDH1	OMIM:119580
HP:0012732	Anorectal anomaly	999	CDH1	ORPHA:1997
HP:0012732	Anorectal anomaly	29954	POMT2	OMIM:236670
HP:0012732	Anorectal anomaly	9215	LARGE1	OMIM:236670
HP:0012732	Anorectal anomaly	79147	FKRP	OMIM:236670
HP:0012732	Anorectal anomaly	10585	POMT1	OMIM:236670
HP:0012732	Anorectal anomaly	2218	FKTN	OMIM:236670
HP:0012732	Anorectal anomaly	2187	FANCB	ORPHA:3412
HP:0012732	Anorectal anomaly	2187	FANCB	ORPHA:84
HP:0012732	Anorectal anomaly	2187	FANCB	OMIM:314390
HP:0012732	Anorectal anomaly	1500	CTNND1	ORPHA:1997
HP:0012732	Anorectal anomaly	7547	ZIC3	OMIM:306955
HP:0012732	Anorectal anomaly	7547	ZIC3	OMIM:314390
HP:0012732	Anorectal anomaly	4072	EPCAM	ORPHA:92050
HP:0012732	Anorectal anomaly	105371045	PERCC1	ORPHA:92050
HP:0012732	Anorectal anomaly	2263	FGFR2	ORPHA:93260
HP:0012732	Anorectal anomaly	2263	FGFR2	ORPHA:93259
HP:0012732	Anorectal anomaly	672	BRCA1	ORPHA:84
HP:0012732	Anorectal anomaly	10459	MAD2L2	ORPHA:84
HP:0012732	Anorectal anomaly	7516	XRCC2	ORPHA:84
HP:0012732	Anorectal anomaly	29089	UBE2T	ORPHA:84
HP:0012732	Anorectal anomaly	675	BRCA2	ORPHA:84
HP:0012732	Anorectal anomaly	675	BRCA2	OMIM:605724
HP:0012732	Anorectal anomaly	55120	FANCL	ORPHA:84
HP:0012732	Anorectal anomaly	55120	FANCL	OMIM:614083
HP:0012732	Anorectal anomaly	2177	FANCD2	ORPHA:84
HP:0012732	Anorectal anomaly	2175	FANCA	ORPHA:84
HP:0012732	Anorectal anomaly	2176	FANCC	ORPHA:84
HP:0012732	Anorectal anomaly	2178	FANCE	ORPHA:84
HP:0012732	Anorectal anomaly	2188	FANCF	ORPHA:84
HP:0012732	Anorectal anomaly	2189	FANCG	ORPHA:84
HP:0012732	Anorectal anomaly	5888	RAD51	ORPHA:84
HP:0012732	Anorectal anomaly	5888	RAD51	OMIM:617244
HP:0012732	Anorectal anomaly	55159	RFWD3	ORPHA:84
HP:0012732	Anorectal anomaly	83990	BRIP1	ORPHA:84
HP:0012732	Anorectal anomaly	57697	FANCM	ORPHA:84
HP:0012732	Anorectal anomaly	79728	PALB2	ORPHA:84
HP:0012732	Anorectal anomaly	84464	SLX4	ORPHA:84
HP:0012732	Anorectal anomaly	2072	ERCC4	ORPHA:84
HP:0012732	Anorectal anomaly	55215	FANCI	ORPHA:84
HP:0012732	Anorectal anomaly	1312	COMT	ORPHA:567
HP:0012732	Anorectal anomaly	221037	JMJD1C	ORPHA:567
HP:0012732	Anorectal anomaly	2812	GP1BB	ORPHA:567
HP:0012732	Anorectal anomaly	6239	RREB1	ORPHA:567
HP:0012732	Anorectal anomaly	6899	TBX1	ORPHA:567
HP:0012732	Anorectal anomaly	7290	HIRA	ORPHA:567
HP:0012732	Anorectal anomaly	9632	SEC24C	ORPHA:567
HP:0012732	Anorectal anomaly	7353	UFD1	ORPHA:567
HP:0012732	Anorectal anomaly	421	ARVCF	ORPHA:567
HP:0012732	Anorectal anomaly	25942	SIN3A	ORPHA:94065
HP:0012732	Anorectal anomaly	25	ABL1	OMIM:617602
HP:0012732	Anorectal anomaly	23065	EMC1	OMIM:616875
HP:0012732	Anorectal anomaly	23065	EMC1	ORPHA:480898
HP:0012732	Anorectal anomaly	55012	PPP2R3C	OMIM:618419
HP:0012732	Anorectal anomaly	23495	TNFRSF13B	ORPHA:1572
HP:0012732	Anorectal anomaly	4790	NFKB1	ORPHA:1572
HP:0012732	Anorectal anomaly	4791	NFKB2	ORPHA:1572
HP:0012732	Anorectal anomaly	115650	TNFRSF13C	ORPHA:1572
HP:0012732	Anorectal anomaly	1380	CR2	ORPHA:1572
HP:0012732	Anorectal anomaly	8742	TNFSF12	ORPHA:1572
HP:0012732	Anorectal anomaly	5580	PRKCD	ORPHA:1572
HP:0012732	Anorectal anomaly	930	CD19	ORPHA:1572
HP:0012732	Anorectal anomaly	29851	ICOS	ORPHA:1572
HP:0012732	Anorectal anomaly	931	MS4A1	ORPHA:1572
HP:0012732	Anorectal anomaly	975	CD81	ORPHA:1572
HP:0012732	Anorectal anomaly	359948	IRF2BP2	ORPHA:1572
HP:0012732	Anorectal anomaly	10046	MAMLD1	ORPHA:95706
HP:0012732	Anorectal anomaly	367	AR	ORPHA:95706
HP:0012732	Anorectal anomaly	6862	TBXT	OMIM:615709
HP:0012732	Anorectal anomaly	4613	MYCN	ORPHA:391641
HP:0012732	Anorectal anomaly	8260	NAA10	OMIM:309800
HP:0012732	Anorectal anomaly	54880	BCOR	OMIM:309800
HP:0012732	Anorectal anomaly	1349	COX7B	OMIM:309801
HP:0012732	Anorectal anomaly	3052	HCCS	OMIM:309801
HP:0012732	Anorectal anomaly	54539	NDUFB11	OMIM:309801
HP:0012732	Anorectal anomaly	55773	TBC1D23	OMIM:617695
HP:0012732	Anorectal anomaly	8239	USP9X	ORPHA:480880
HP:0012732	Anorectal anomaly	8239	USP9X	OMIM:300968
HP:0012732	Anorectal anomaly	79228	THOC6	ORPHA:363444
HP:0012732	Anorectal anomaly	79813	EHMT1	ORPHA:261652
HP:0012732	Anorectal anomaly	58508	KMT2C	ORPHA:261652
HP:0012732	Anorectal anomaly	23112	TNRC6B	OMIM:619243
HP:0012732	Anorectal anomaly	7291	TWIST1	OMIM:617746
HP:0012732	Anorectal anomaly	9897	WASHC5	OMIM:220210
HP:0012732	Anorectal anomaly	9897	WASHC5	ORPHA:7
HP:0012732	Anorectal anomaly	153241	CEP120	OMIM:616300
HP:0012732	Anorectal anomaly	7476	WNT7A	ORPHA:2879
HP:0012732	Anorectal anomaly	1807	DPYS	OMIM:222748
HP:0012732	Anorectal anomaly	3239	HOXD13	ORPHA:887
HP:0012732	Anorectal anomaly	28952	CCDC22	ORPHA:7
HP:0012732	Anorectal anomaly	51733	UPB1	OMIM:613161
HP:0012732	Anorectal anomaly	54903	MKS1	OMIM:249000
HP:0012732	Anorectal anomaly	9573	GDF3	ORPHA:2345
HP:0012732	Anorectal anomaly	392255	GDF6	ORPHA:2345
HP:0012732	Anorectal anomaly	4222	MEOX1	ORPHA:2345
HP:0012732	Anorectal anomaly	27152	INTU	OMIM:617925
HP:0012732	Anorectal anomaly	2719	GPC3	OMIM:312870
HP:0012732	Anorectal anomaly	2239	GPC4	OMIM:312870
HP:0012732	Anorectal anomaly	139285	AMER1	OMIM:300373
HP:0012732	Anorectal anomaly	3981	LIG4	ORPHA:235
HP:0012732	Anorectal anomaly	54888	NSUN2	ORPHA:235
HP:0012732	Anorectal anomaly	23556	PIGN	OMIM:614080
HP:0012732	Anorectal anomaly	23556	PIGN	ORPHA:280633
HP:0012732	Anorectal anomaly	80144	FRAS1	ORPHA:2052
HP:0012732	Anorectal anomaly	23426	GRIP1	ORPHA:2052
HP:0012732	Anorectal anomaly	6628	SNRPB	OMIM:117650
HP:0012732	Anorectal anomaly	6608	SMO	OMIM:601707
HP:0012732	Anorectal anomaly	4683	NBN	OMIM:251260
HP:0012732	Anorectal anomaly	4683	NBN	ORPHA:647
HP:0012732	Anorectal anomaly	23522	KAT6B	OMIM:606170
HP:0012732	Anorectal anomaly	6023	RMRP	OMIM:250250
HP:0012732	Anorectal anomaly	775	CACNA1C	OMIM:620029
HP:0012732	Anorectal anomaly	27315	PGAP2	OMIM:614207
HP:0012732	Anorectal anomaly	158326	FREM1	ORPHA:2717
HP:0012732	Anorectal anomaly	158326	FREM1	ORPHA:217266
HP:0012732	Anorectal anomaly	158326	FREM1	OMIM:248450
HP:0012732	Anorectal anomaly	84720	PIGO	OMIM:614749
HP:0012732	Anorectal anomaly	5308	PITX2	OMIM:180500
HP:0012732	Anorectal anomaly	5308	PITX2	ORPHA:782
HP:0012732	Anorectal anomaly	3110	MNX1	OMIM:176450
HP:0012732	Anorectal anomaly	57167	SALL4	OMIM:607323
HP:0012732	Anorectal anomaly	8626	TP63	OMIM:604292
HP:0012732	Anorectal anomaly	1009	CDH11	OMIM:211380
HP:0012732	Anorectal anomaly	2296	FOXC1	ORPHA:782
HP:0012732	Anorectal anomaly	6299	SALL1	OMIM:107480
HP:0012732	Anorectal anomaly	6926	TBX3	OMIM:181450
HP:0012732	Anorectal anomaly	8318	CDC45	OMIM:617063
HP:0012732	Anorectal anomaly	54101	RIPK4	OMIM:263650
HP:0012732	Anorectal anomaly	84667	HES7	OMIM:613686
HP:0012732	Anorectal anomaly	55612	FERMT1	OMIM:173650
HP:0012732	Anorectal anomaly	55636	CHD7	OMIM:214800
HP:0012732	Anorectal anomaly	79633	FAT4	ORPHA:314679
HP:0012732	Anorectal anomaly	8642	DCHS1	ORPHA:314679
HP:0012732	Anorectal anomaly	9968	MED12	OMIM:305450
HP:0012732	Anorectal anomaly	8085	KMT2D	OMIM:147920
HP:0012732	Anorectal anomaly	7403	KDM6A	OMIM:147920
HP:0012732	Anorectal anomaly	1277	COL1A1	ORPHA:287
HP:0012732	Anorectal anomaly	1289	COL5A1	ORPHA:287
HP:0012732	Anorectal anomaly	1290	COL5A2	ORPHA:287
HP:0012732	Anorectal anomaly	6197	RPS6KA3	OMIM:303600
HP:0012732	Anorectal anomaly	6804	STX1A	ORPHA:586
HP:0012732	Anorectal anomaly	6804	STX1A	ORPHA:904
HP:0012732	Anorectal anomaly	2947	GSTM3	ORPHA:586
HP:0012732	Anorectal anomaly	2729	GCLC	ORPHA:586
HP:0012732	Anorectal anomaly	1084	CEACAM3	ORPHA:586
HP:0012732	Anorectal anomaly	6556	SLC11A1	ORPHA:586
HP:0012732	Anorectal anomaly	51164	DCTN4	ORPHA:586
HP:0012732	Anorectal anomaly	3783	KCNN4	ORPHA:586
HP:0012732	Anorectal anomaly	4282	MIF	ORPHA:586
HP:0012732	Anorectal anomaly	1909	EDNRA	ORPHA:586
HP:0012732	Anorectal anomaly	6550	SLC9A3	ORPHA:586
HP:0012732	Anorectal anomaly	3162	HMOX1	ORPHA:586
HP:0012732	Anorectal anomaly	115019	SLC26A9	ORPHA:586
HP:0012732	Anorectal anomaly	3077	HFE	ORPHA:586
HP:0012732	Anorectal anomaly	11254	SLC6A14	ORPHA:586
HP:0012732	Anorectal anomaly	5265	SERPINA1	ORPHA:586
HP:0012732	Anorectal anomaly	1080	CFTR	ORPHA:586
HP:0012732	Anorectal anomaly	1080	CFTR	OMIM:219700
HP:0012732	Anorectal anomaly	22802	CLCA4	ORPHA:586
HP:0012732	Anorectal anomaly	4680	CEACAM6	ORPHA:586
HP:0012732	Anorectal anomaly	4629	MYH11	OMIM:619350
HP:0012732	Anorectal anomaly	2212	FCGR2A	OMIM:219700
HP:0012732	Anorectal anomaly	4089	SMAD4	OMIM:174900
HP:0012732	Anorectal anomaly	54496	PRMT7	OMIM:617157
HP:0012732	Anorectal anomaly	4000	LMNA	OMIM:619793
HP:0012732	Anorectal anomaly	8425	LTBP4	OMIM:613177
HP:0012732	Anorectal anomaly	7461	CLIP2	ORPHA:904
HP:0012732	Anorectal anomaly	84277	DNAJC30	ORPHA:904
HP:0012732	Anorectal anomaly	8468	FKBP6	ORPHA:904
HP:0012732	Anorectal anomaly	5982	RFC2	ORPHA:904
HP:0012732	Anorectal anomaly	2969	GTF2I	ORPHA:904
HP:0012732	Anorectal anomaly	3984	LIMK1	ORPHA:904
HP:0012732	Anorectal anomaly	9569	GTF2IRD1	ORPHA:904
HP:0012732	Anorectal anomaly	155382	VPS37D	ORPHA:904
HP:0012732	Anorectal anomaly	155368	METTL27	ORPHA:904
HP:0012732	Anorectal anomaly	114049	BUD23	ORPHA:904
HP:0012732	Anorectal anomaly	7458	EIF4H	ORPHA:904
HP:0012732	Anorectal anomaly	84163	GTF2IRD2	ORPHA:904
HP:0012732	Anorectal anomaly	9275	BCL7B	ORPHA:904
HP:0012732	Anorectal anomaly	26608	TBL2	ORPHA:904
HP:0012732	Anorectal anomaly	653361	NCF1	ORPHA:904
HP:0012732	Anorectal anomaly	135886	TMEM270	ORPHA:904
HP:0012732	Anorectal anomaly	51085	MLXIPL	ORPHA:904
HP:0012732	Anorectal anomaly	51085	MLXIPL	OMIM:194050
HP:0012732	Anorectal anomaly	9031	BAZ1B	ORPHA:904
HP:0012732	Anorectal anomaly	2006	ELN	ORPHA:904
HP:0012732	Anorectal anomaly	2006	ELN	OMIM:194050
HP:0012732	Anorectal anomaly	147372	CCBE1	OMIM:235510
HP:0012732	Anorectal anomaly	5590	PRKCZ	ORPHA:1606
HP:0012732	Anorectal anomaly	2563	GABRD	ORPHA:1606
HP:0012732	Anorectal anomaly	23013	SPEN	ORPHA:1606
HP:0012732	Anorectal anomaly	8510	MMP23B	ORPHA:1606
HP:0012732	Anorectal anomaly	7798	LUZP1	ORPHA:1606
HP:0012732	Anorectal anomaly	6497	SKI	ORPHA:1606
HP:0012732	Anorectal anomaly	10630	PDPN	ORPHA:1606
HP:0012732	Anorectal anomaly	3339	HSPG2	ORPHA:1606
HP:0012732	Anorectal anomaly	10277	UBE4B	ORPHA:1606
HP:0012732	Anorectal anomaly	8514	KCNAB2	ORPHA:1606
HP:0012732	Anorectal anomaly	473	RERE	ORPHA:1606
HP:0012732	Anorectal anomaly	63976	PRDM16	ORPHA:1606
HP:0012732	Anorectal anomaly	54897	CASZ1	ORPHA:1606
HP:0012732	Anorectal anomaly	10225	CD96	ORPHA:1308
HP:0012732	Anorectal anomaly	2313	FLI1	ORPHA:2308
HP:0012732	Anorectal anomaly	3670	ISL1	ORPHA:93930
HP:0012732	Anorectal anomaly	64359	NXN	ORPHA:1507
HP:0012732	Anorectal anomaly	4920	ROR2	ORPHA:1507
HP:0012732	Anorectal anomaly	488	ATP2A2	ORPHA:218
HP:0012732	Anorectal anomaly	1736	DKC1	OMIM:305000
HP:0012732	Anorectal anomaly	6850	SYK	OMIM:619381
HP:0012732	Anorectal anomaly	4689	NCF4	OMIM:613960
HP:0012732	Anorectal anomaly	917	CD3G	OMIM:615607
HP:0012732	Anorectal anomaly	5317	PKP1	ORPHA:158668
HP:0012732	Anorectal anomaly	4688	NCF2	OMIM:233710
HP:0012732	Anorectal anomaly	3507	IGHM	OMIM:601495
HP:0012732	Anorectal anomaly	3689	ITGB2	OMIM:116920
HP:0012732	Anorectal anomaly	1536	CYBB	OMIM:306400
HP:0012732	Anorectal anomaly	1535	CYBA	OMIM:233690
HP:0012732	Anorectal anomaly	5880	RAC2	OMIM:608203
HP:0012732	Anorectal anomaly	81704	DOCK8	ORPHA:217390
HP:0012732	Anorectal anomaly	2000	ELF4	OMIM:301074
HP:0012732	Anorectal anomaly	7040	TGFB1	OMIM:618213
HP:0012732	Anorectal anomaly	92579	G6PC3	OMIM:612541
HP:0012732	Anorectal anomaly	3587	IL10RA	OMIM:613148
HP:0012732	Anorectal anomaly	22806	IKZF3	OMIM:619437
HP:0012732	Anorectal anomaly	8737	RIPK1	OMIM:618108
HP:0012732	Anorectal anomaly	1991	ELANE	ORPHA:2686
HP:0012732	Anorectal anomaly	50619	DEF6	OMIM:619573
HP:0012732	Anorectal anomaly	79415	CYBC1	OMIM:618935
HP:0012732	Anorectal anomaly	4312	MMP1	ORPHA:79408
HP:0012732	Anorectal anomaly	1294	COL7A1	ORPHA:79408
HP:0012732	Anorectal anomaly	1294	COL7A1	ORPHA:89842
HP:0012732	Anorectal anomaly	6868	ADAM17	ORPHA:294023
HP:0012732	Anorectal anomaly	1956	EGFR	ORPHA:294023
HP:0012732	Anorectal anomaly	9935	MAFB	ORPHA:233
HP:0012732	Anorectal anomaly	1123	CHN1	ORPHA:233
HP:0012732	Anorectal anomaly	80169	CTC1	ORPHA:1775
HP:0012732	Anorectal anomaly	26277	TINF2	ORPHA:1775
HP:0012732	Anorectal anomaly	55651	NHP2	ORPHA:1775
HP:0012732	Anorectal anomaly	79650	USB1	ORPHA:1775
HP:0012732	Anorectal anomaly	55135	WRAP53	ORPHA:1775
HP:0012732	Anorectal anomaly	51750	RTEL1	ORPHA:1775
HP:0012732	Anorectal anomaly	4869	NPM1	ORPHA:1775
HP:0012732	Anorectal anomaly	7012	TERC	ORPHA:1775
HP:0012732	Anorectal anomaly	55505	NOP10	ORPHA:1775
HP:0012732	Anorectal anomaly	5073	PARN	ORPHA:1775
HP:0012732	Anorectal anomaly	7015	TERT	ORPHA:1775
HP:0012732	Anorectal anomaly	7298	TYMS	ORPHA:1775
HP:0012732	Anorectal anomaly	341640	FREM2	OMIM:617666
HP:0012732	Anorectal anomaly	5889	RAD51C	OMIM:613390
HP:0012732	Anorectal anomaly	57217	TTC7A	OMIM:243150
HP:0012732	Anorectal anomaly	26123	TCTN3	ORPHA:2753
HP:0012732	Anorectal anomaly	55593	OTUD5	OMIM:301056
HP:0012732	Anorectal anomaly	3643	INSR	ORPHA:508
HP:0012732	Anorectal anomaly	56983	POGLUT1	ORPHA:79145
HP:0012732	Anorectal anomaly	3852	KRT5	ORPHA:79145
HP:0012732	Anorectal anomaly	23509	POFUT1	ORPHA:79145
HP:0012732	Anorectal anomaly	55851	PSENEN	ORPHA:79145
HP:0012732	Anorectal anomaly	1794	DOCK2	OMIM:616433
HP:0012732	Anorectal anomaly	4292	MLH1	ORPHA:144
HP:0012732	Anorectal anomaly	5395	PMS2	ORPHA:144
HP:0012732	Anorectal anomaly	27030	MLH3	ORPHA:144
HP:0012732	Anorectal anomaly	22909	FAN1	ORPHA:144
HP:0012732	Anorectal anomaly	7048	TGFBR2	ORPHA:144
HP:0012732	Anorectal anomaly	3845	KRAS	ORPHA:144
HP:0012732	Anorectal anomaly	5290	PIK3CA	ORPHA:144
HP:0012732	Anorectal anomaly	2956	MSH6	ORPHA:144
HP:0012732	Anorectal anomaly	2956	MSH6	OMIM:619097
HP:0012732	Anorectal anomaly	5378	PMS1	ORPHA:144
HP:0012732	Anorectal anomaly	4436	MSH2	ORPHA:144
HP:0012732	Anorectal anomaly	8313	AXIN2	ORPHA:401911
HP:0012732	Anorectal anomaly	6389	SDHA	ORPHA:44890
HP:0012732	Anorectal anomaly	6390	SDHB	ORPHA:44890
HP:0012732	Anorectal anomaly	6391	SDHC	ORPHA:44890
HP:0012732	Anorectal anomaly	5156	PDGFRA	ORPHA:44890
HP:0012732	Anorectal anomaly	3815	KIT	ORPHA:44890
HP:0012732	Anorectal anomaly	26585	GREM1	ORPHA:157794
HP:0012732	Anorectal anomaly	657	BMPR1A	ORPHA:157794
HP:0012732	Anorectal anomaly	657	BMPR1A	ORPHA:440437
HP:0012732	Anorectal anomaly	4913	NTHL1	ORPHA:454840
HP:0012732	Anorectal anomaly	64218	SEMA4A	ORPHA:440437
HP:0012732	Anorectal anomaly	6224	RPS20	ORPHA:440437
HP:0012732	Anorectal anomaly	6794	STK11	ORPHA:2869
HP:0012732	Anorectal anomaly	5426	POLE	ORPHA:447877
HP:0012732	Anorectal anomaly	5424	POLD1	ORPHA:447877
HP:0012732	Anorectal anomaly	4437	MSH3	ORPHA:480536
HP:0012732	Anorectal anomaly	5573	PRKAR1A	ORPHA:1359
HP:0012732	Anorectal anomaly	50940	PDE11A	ORPHA:1359
HP:0012732	Anorectal anomaly	7157	TP53	ORPHA:524
HP:0012732	Anorectal anomaly	1029	CDKN2A	ORPHA:524
HP:0012732	Anorectal anomaly	4193	MDM2	ORPHA:524
HP:0012732	Anorectal anomaly	11200	CHEK2	ORPHA:524
HP:0012732	Anorectal anomaly	2022	ENG	ORPHA:329971
HP:0012732	Anorectal anomaly	10483	SEC23B	ORPHA:201
HP:0012732	Anorectal anomaly	5728	PTEN	ORPHA:201
HP:0012732	Anorectal anomaly	6392	SDHD	ORPHA:201
HP:0012732	Anorectal anomaly	207	AKT1	ORPHA:201
HP:0012732	Anorectal anomaly	205717	USF3	ORPHA:201
HP:0012732	Anorectal anomaly	100144748	KLLN	ORPHA:201
HP:0012732	Anorectal anomaly	54894	RNF43	ORPHA:157798
HP:0012732	Anorectal anomaly	4595	MUTYH	ORPHA:247798
HP:0012732	Anorectal anomaly	324	APC	OMIM:135290
HP:0012732	Anorectal anomaly	9817	KEAP1	ORPHA:276399
HP:0012732	Anorectal anomaly	23405	DICER1	ORPHA:276399
HP:0012734	Ketotic hypoglycemia	56246	MRAP	ORPHA:361
HP:0012734	Ketotic hypoglycemia	6770	STAR	ORPHA:361
HP:0012734	Ketotic hypoglycemia	4158	MC2R	ORPHA:361
HP:0012734	Ketotic hypoglycemia	23530	NNT	ORPHA:361
HP:0012734	Ketotic hypoglycemia	10587	TXNRD2	ORPHA:361
HP:0012734	Ketotic hypoglycemia	2998	GYS2	ORPHA:2089
HP:0012734	Ketotic hypoglycemia	5257	PHKB	ORPHA:79240
HP:0012734	Ketotic hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0012734	Ketotic hypoglycemia	6566	SLC16A1	OMIM:616095
HP:0012734	Ketotic hypoglycemia	27034	ACAD8	ORPHA:79159
HP:0012734	Ketotic hypoglycemia	35	ACADS	ORPHA:26792
HP:0012735	Cough	26191	PTPN22	ORPHA:397
HP:0012735	Cough	26191	PTPN22	ORPHA:900
HP:0012735	Cough	3106	HLA-B	ORPHA:397
HP:0012735	Cough	3106	HLA-B	ORPHA:36426
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:397
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:797
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:747
HP:0012735	Cough	3123	HLA-DRB1	OMIM:181000
HP:0012735	Cough	8974	P4HA2	ORPHA:397
HP:0012735	Cough	3561	IL2RG	ORPHA:276
HP:0012735	Cough	139212	DNAAF6	OMIM:300991
HP:0012735	Cough	2622	GAS8	OMIM:616726
HP:0012735	Cough	2057	EPOR	ORPHA:90042
HP:0012735	Cough	1776	DNASE1L3	ORPHA:36412
HP:0012735	Cough	6556	SLC11A1	ORPHA:3389
HP:0012735	Cough	6440	SFTPC	OMIM:178500
HP:0012735	Cough	6440	SFTPC	OMIM:610913
HP:0012735	Cough	6440	SFTPC	ORPHA:2032
HP:0012735	Cough	727897	MUC5B	OMIM:178500
HP:0012735	Cough	727897	MUC5B	ORPHA:2032
HP:0012735	Cough	729238	SFTPA2	OMIM:178500
HP:0012735	Cough	729238	SFTPA2	ORPHA:2032
HP:0012735	Cough	7015	TERT	OMIM:178500
HP:0012735	Cough	7015	TERT	ORPHA:2032
HP:0012735	Cough	7015	TERT	OMIM:614742
HP:0012735	Cough	4141	MARS1	OMIM:615486
HP:0012735	Cough	440275	EIF2AK4	OMIM:234810
HP:0012735	Cough	146845	CFAP52	OMIM:619607
HP:0012735	Cough	388389	CCDC103	OMIM:614679
HP:0012735	Cough	7248	TSC1	ORPHA:538
HP:0012735	Cough	7249	TSC2	ORPHA:538
HP:0012735	Cough	3119	HLA-DQB1	ORPHA:930
HP:0012735	Cough	9244	CRLF1	ORPHA:930
HP:0012735	Cough	3117	HLA-DQA1	ORPHA:930
HP:0012735	Cough	4842	NOS1	ORPHA:930
HP:0012735	Cough	9663	LPIN2	ORPHA:77297
HP:0012735	Cough	10320	IKZF1	ORPHA:36426
HP:0012735	Cough	1439	CSF2RB	ORPHA:264675
HP:0012735	Cough	1438	CSF2RA	ORPHA:264675
HP:0012735	Cough	6772	STAT1	OMIM:614162
HP:0012735	Cough	653509	SFTPA1	OMIM:619611
HP:0012735	Cough	653509	SFTPA1	ORPHA:2032
HP:0012735	Cough	6774	STAT3	ORPHA:2314
HP:0012735	Cough	79991	STN1	ORPHA:2032
HP:0012735	Cough	21	ABCA3	ORPHA:2032
HP:0012735	Cough	21	ABCA3	OMIM:610921
HP:0012735	Cough	1832	DSP	ORPHA:2032
HP:0012735	Cough	10144	FAM13A	ORPHA:2032
HP:0012735	Cough	23250	ATP11A	ORPHA:2032
HP:0012735	Cough	91039	DPP9	ORPHA:2032
HP:0012735	Cough	51750	RTEL1	ORPHA:2032
HP:0012735	Cough	7012	TERC	ORPHA:2032
HP:0012735	Cough	5073	PARN	ORPHA:2032
HP:0012735	Cough	5073	PARN	OMIM:616371
HP:0012735	Cough	3431	SP110	ORPHA:79124
HP:0012735	Cough	659	BMPR2	OMIM:178600
HP:0012735	Cough	254428	SLC41A1	OMIM:619468
HP:0012735	Cough	115399	LRRC56	OMIM:618254
HP:0012735	Cough	84818	IL17RC	ORPHA:1334
HP:0012735	Cough	64581	CLEC7A	ORPHA:1334
HP:0012735	Cough	23765	IL17RA	ORPHA:1334
HP:0012735	Cough	10758	TRAF3IP2	ORPHA:1334
HP:0012735	Cough	112744	IL17F	ORPHA:1334
HP:0012735	Cough	5981	RFC1	OMIM:614575
HP:0012735	Cough	5376	PMP22	ORPHA:90658
HP:0012735	Cough	56244	BTNL2	ORPHA:797
HP:0012735	Cough	55036	CCDC40	OMIM:613808
HP:0012735	Cough	339829	CCDC39	OMIM:613807
HP:0012735	Cough	10558	SPTLC1	ORPHA:36386
HP:0012735	Cough	25923	ATL3	ORPHA:36386
HP:0012735	Cough	9517	SPTLC2	ORPHA:36386
HP:0012735	Cough	51062	ATL1	ORPHA:36386
HP:0012735	Cough	1770	DNAH9	OMIM:618300
HP:0012735	Cough	5265	SERPINA1	OMIM:613490
HP:0012735	Cough	54914	FOCAD	OMIM:619991
HP:0012735	Cough	4519	MT-CYB	ORPHA:137675
HP:0012735	Cough	64446	DNAI2	OMIM:612444
HP:0012735	Cough	6049	RNF6	ORPHA:99977
HP:0012735	Cough	7048	TGFBR2	ORPHA:99977
HP:0012735	Cough	51741	WWOX	ORPHA:99977
HP:0012735	Cough	9940	DLEC1	ORPHA:99977
HP:0012735	Cough	10056	FARSB	OMIM:613658
HP:0012735	Cough	1493	CTLA4	ORPHA:900
HP:0012735	Cough	3115	HLA-DPB1	ORPHA:900
HP:0012735	Cough	3115	HLA-DPB1	ORPHA:133
HP:0012735	Cough	5657	PRTN3	ORPHA:900
HP:0012735	Cough	3113	HLA-DPA1	ORPHA:900
HP:0012735	Cough	6340	SCNN1G	ORPHA:171876
HP:0012735	Cough	6337	SCNN1A	ORPHA:171876
HP:0012735	Cough	6338	SCNN1B	ORPHA:171876
HP:0012735	Cough	10585	POMT1	ORPHA:86812
HP:0012735	Cough	1314	COPA	OMIM:616414
HP:0012735	Cough	10342	TFG	ORPHA:90117
HP:0012735	Cough	8701	DNAH11	OMIM:611884
HP:0012735	Cough	3662	IRF4	ORPHA:3452
HP:0012735	Cough	10551	AGR2	OMIM:620233
HP:0012735	Cough	8314	BAP1	ORPHA:50251
HP:0012735	Cough	38	ACAT1	ORPHA:134
HP:0012735	Cough	2193	FARSA	OMIM:619013
HP:0012735	Cough	5557	PRIM1	OMIM:620005
HP:0012735	Cough	1536	CYBB	OMIM:306400
HP:0012735	Cough	2629	GBA1	OMIM:230900
HP:0012735	Cough	2629	GBA1	ORPHA:77260
HP:0012735	Cough	80025	PANK2	ORPHA:216866
HP:0012735	Cough	115948	ODAD3	OMIM:616037
HP:0012735	Cough	7080	NKX2-1	OMIM:610978
HP:0012735	Cough	1288	COL4A6	ORPHA:1018
HP:0012735	Cough	1287	COL4A5	ORPHA:1018
HP:0012735	Cough	6929	TCF3	ORPHA:33110
HP:0012735	Cough	973	CD79A	ORPHA:33110
HP:0012735	Cough	974	CD79B	ORPHA:33110
HP:0012735	Cough	3543	IGLL1	ORPHA:33110
HP:0012735	Cough	3507	IGHM	ORPHA:33110
HP:0012735	Cough	29760	BLNK	ORPHA:33110
HP:0012735	Cough	5295	PIK3R1	ORPHA:33110
HP:0012735	Cough	56262	LRRC8A	ORPHA:33110
HP:0012735	Cough	25981	DNAH1	ORPHA:244
HP:0012735	Cough	54768	HYDIN	ORPHA:244
HP:0012735	Cough	352909	DNAAF3	ORPHA:244
HP:0012735	Cough	27148	STK36	ORPHA:244
HP:0012735	Cough	51314	NME8	ORPHA:244
HP:0012735	Cough	92749	DRC1	ORPHA:244
HP:0012735	Cough	54970	TTC12	ORPHA:244
HP:0012735	Cough	152110	NEK10	ORPHA:244
HP:0012735	Cough	8481	OFD1	ORPHA:244
HP:0012735	Cough	2302	FOXJ1	ORPHA:244
HP:0012735	Cough	2302	FOXJ1	OMIM:618699
HP:0012735	Cough	221421	RSPH9	ORPHA:244
HP:0012735	Cough	85478	CCDC65	ORPHA:244
HP:0012735	Cough	51364	ZMYND10	ORPHA:244
HP:0012735	Cough	6674	SPAG1	ORPHA:244
HP:0012735	Cough	83544	DNAL1	ORPHA:244
HP:0012735	Cough	89765	RSPH1	ORPHA:244
HP:0012735	Cough	83538	ODAD4	ORPHA:244
HP:0012735	Cough	83538	ODAD4	OMIM:617092
HP:0012735	Cough	200373	CFAP221	ORPHA:244
HP:0012735	Cough	374407	DNAJB13	ORPHA:244
HP:0012735	Cough	55172	DNAAF2	ORPHA:244
HP:0012735	Cough	161582	DNAAF4	ORPHA:244
HP:0012735	Cough	161582	DNAAF4	OMIM:615482
HP:0012735	Cough	23639	DNAAF11	ORPHA:244
HP:0012735	Cough	27019	DNAI1	ORPHA:244
HP:0012735	Cough	345895	RSPH4A	ORPHA:244
HP:0012735	Cough	54919	DNAAF5	ORPHA:244
HP:0012735	Cough	6103	RPGR	ORPHA:244
HP:0012735	Cough	93233	ODAD1	ORPHA:244
HP:0012735	Cough	93233	ODAD1	OMIM:615067
HP:0012735	Cough	55130	ODAD2	ORPHA:244
HP:0012735	Cough	55130	ODAD2	OMIM:615451
HP:0012735	Cough	1767	DNAH5	ORPHA:244
HP:0012735	Cough	83861	RSPH3	ORPHA:244
HP:0012735	Cough	345643	MCIDAS	ORPHA:244
HP:0012735	Cough	56683	CFAP298	ORPHA:244
HP:0012735	Cough	79925	SPEF2	ORPHA:244
HP:0012735	Cough	10309	CCNO	ORPHA:244
HP:0012735	Cough	123872	DNAAF1	ORPHA:244
HP:0012735	Cough	85016	CFAP300	ORPHA:244
HP:0012735	Cough	85016	CFAP300	OMIM:618063
HP:0012735	Cough	246176	GAS2L2	ORPHA:244
HP:0012735	Cough	5371	PML	ORPHA:520
HP:0012735	Cough	5914	RARA	ORPHA:520
HP:0012735	Cough	359948	IRF2BP2	ORPHA:520
HP:0012735	Cough	81608	FIP1L1	ORPHA:520
HP:0012735	Cough	4869	NPM1	ORPHA:520
HP:0012735	Cough	5573	PRKAR1A	ORPHA:520
HP:0012735	Cough	54880	BCOR	ORPHA:520
HP:0012735	Cough	64859	NABP1	ORPHA:520
HP:0012735	Cough	6777	STAT5B	ORPHA:520
HP:0012735	Cough	4926	NUMA1	ORPHA:520
HP:0012735	Cough	7704	ZBTB16	ORPHA:520
HP:0012735	Cough	79718	TBL1XR1	ORPHA:520
HP:0012735	Cough	1080	CFTR	ORPHA:60033
HP:0012735	Cough	23568	ARL2BP	OMIM:615434
HP:0012735	Cough	10568	SLC34A2	ORPHA:60025
HP:0012735	Cough	4359	MPZ	OMIM:607736
HP:0012735	Cough	85452	CFAP74	OMIM:620197
HP:0012735	Cough	5971	RELB	OMIM:617585
HP:0012736	Profound global developmental delay	91949	COG7	OMIM:608779
HP:0012736	Profound global developmental delay	10785	WDR4	OMIM:618346
HP:0012736	Profound global developmental delay	343450	KCNT2	OMIM:617771
HP:0012736	Profound global developmental delay	23334	SZT2	OMIM:615476
HP:0012736	Profound global developmental delay	132	ADK	OMIM:614300
HP:0012736	Profound global developmental delay	64857	PLEKHG2	OMIM:616763
HP:0012736	Profound global developmental delay	9254	CACNA2D2	OMIM:618501
HP:0012736	Profound global developmental delay	116115	ZNF526	OMIM:619877
HP:0012736	Profound global developmental delay	285175	UNC80	OMIM:616801
HP:0012736	Profound global developmental delay	25977	NECAP1	OMIM:615833
HP:0012736	Profound global developmental delay	781	CACNA2D1	OMIM:620149
HP:0012736	Profound global developmental delay	8364	H4C3	OMIM:619758
HP:0012736	Profound global developmental delay	10667	FARS2	OMIM:614946
HP:0012736	Profound global developmental delay	132158	GLYCTK	ORPHA:941
HP:0012736	Profound global developmental delay	64220	STRA6	OMIM:601186
HP:0012736	Profound global developmental delay	2258	FGF13	OMIM:301058
HP:0012736	Profound global developmental delay	128869	PIGU	OMIM:618590
HP:0012736	Profound global developmental delay	5631	PRPS1	ORPHA:423479
HP:0012736	Profound global developmental delay	6558	SLC12A2	OMIM:619080
HP:0012736	Profound global developmental delay	10479	SLC9A6	OMIM:300243
HP:0012736	Profound global developmental delay	2222	FDFT1	OMIM:618156
HP:0012736	Profound global developmental delay	60558	GUF1	OMIM:617065
HP:0012736	Profound global developmental delay	64801	ARV1	OMIM:617020
HP:0012736	Profound global developmental delay	122961	ISCA2	OMIM:616370
HP:0012736	Profound global developmental delay	5649	RELN	ORPHA:89844
HP:0012736	Profound global developmental delay	10300	KATNB1	ORPHA:89844
HP:0012736	Profound global developmental delay	54820	NDE1	ORPHA:89844
HP:0012736	Profound global developmental delay	54820	NDE1	OMIM:605013
HP:0012736	Profound global developmental delay	5859	QARS1	OMIM:615760
HP:0012736	Profound global developmental delay	387787	LIPT2	OMIM:617668
HP:0012736	Profound global developmental delay	56947	MFF	ORPHA:485421
HP:0012736	Profound global developmental delay	4976	OPA1	OMIM:616896
HP:0012736	Profound global developmental delay	55704	CCDC88A	OMIM:617507
HP:0012736	Profound global developmental delay	57038	RARS2	OMIM:611523
HP:0012736	Profound global developmental delay	25973	PARS2	OMIM:618437
HP:0012736	Profound global developmental delay	57582	KCNT1	OMIM:614959
HP:0012736	Profound global developmental delay	170302	ARX	OMIM:300215
HP:0012736	Profound global developmental delay	284098	PIGW	OMIM:616025
HP:0012736	Profound global developmental delay	440	ASNS	OMIM:615574
HP:0012736	Profound global developmental delay	2902	GRIN1	OMIM:619814
HP:0012736	Profound global developmental delay	2902	GRIN1	ORPHA:208447
HP:0012736	Profound global developmental delay	3785	KCNQ2	ORPHA:439218
HP:0012736	Profound global developmental delay	7965	AIMP2	OMIM:618006
HP:0012736	Profound global developmental delay	93627	TBCK	OMIM:616900
HP:0012736	Profound global developmental delay	23325	WASHC4	OMIM:615817
HP:0012736	Profound global developmental delay	64116	SLC39A8	ORPHA:468699
HP:0012736	Profound global developmental delay	9570	GOSR2	OMIM:620166
HP:0012736	Profound global developmental delay	546	ATRX	ORPHA:847
HP:0012736	Profound global developmental delay	29968	PSAT1	ORPHA:284417
HP:0012736	Profound global developmental delay	23258	DENND5A	OMIM:617281
HP:0012736	Profound global developmental delay	2009	EML1	OMIM:600348
HP:0012736	Profound global developmental delay	58497	PRUNE1	OMIM:617481
HP:0012736	Profound global developmental delay	25930	PTPN23	OMIM:618890
HP:0012736	Profound global developmental delay	3658	IREB2	OMIM:618451
HP:0012736	Profound global developmental delay	2903	GRIN2A	ORPHA:289266
HP:0012736	Profound global developmental delay	667	DST	OMIM:614653
HP:0012736	Profound global developmental delay	6785	ELOVL4	OMIM:614457
HP:0012736	Profound global developmental delay	9419	CRIPT	OMIM:615789
HP:0012736	Profound global developmental delay	55670	PEX26	ORPHA:912
HP:0012736	Profound global developmental delay	5824	PEX19	ORPHA:912
HP:0012736	Profound global developmental delay	5828	PEX2	ORPHA:912
HP:0012736	Profound global developmental delay	8504	PEX3	ORPHA:912
HP:0012736	Profound global developmental delay	8799	PEX11B	ORPHA:912
HP:0012736	Profound global developmental delay	9409	PEX16	ORPHA:912
HP:0012736	Profound global developmental delay	5190	PEX6	ORPHA:912
HP:0012736	Profound global developmental delay	5830	PEX5	ORPHA:912
HP:0012736	Profound global developmental delay	5189	PEX1	ORPHA:912
HP:0012736	Profound global developmental delay	5193	PEX12	ORPHA:912
HP:0012736	Profound global developmental delay	5194	PEX13	ORPHA:912
HP:0012736	Profound global developmental delay	5195	PEX14	ORPHA:912
HP:0012736	Profound global developmental delay	5192	PEX10	ORPHA:912
HP:0012736	Profound global developmental delay	26040	SETBP1	ORPHA:798
HP:0012738	Agenesis of canine	83479	DDX59	ORPHA:2919
HP:0012733	Macule	3479	IGF1	ORPHA:73272
HP:0012733	Macule	8367	H4C5	OMIM:619950
HP:0012733	Macule	8216	LZTR1	OMIM:616564
HP:0012733	Macule	8216	LZTR1	OMIM:605275
HP:0012733	Macule	4683	NBN	OMIM:251260
HP:0012733	Macule	55240	STEAP3	OMIM:615234
HP:0012733	Macule	55240	STEAP3	ORPHA:300298
HP:0012733	Macule	55654	TMEM127	OMIM:171300
HP:0012733	Macule	5979	RET	OMIM:171300
HP:0012733	Macule	4149	MAX	OMIM:171300
HP:0012733	Macule	7428	VHL	OMIM:171300
HP:0012733	Macule	161742	SPRED1	OMIM:611431
HP:0012733	Macule	324	APC	ORPHA:99818
HP:0012733	Macule	26040	SETBP1	ORPHA:436151
HP:0012733	Macule	64682	ANAPC1	OMIM:618625
HP:0012733	Macule	10060	ABCC9	OMIM:619719
HP:0012733	Macule	84570	COL25A1	ORPHA:91411
HP:0012733	Macule	79776	ZFHX4	ORPHA:91411
HP:0012733	Macule	6548	SLC9A1	OMIM:616291
HP:0012733	Macule	197131	UBR1	OMIM:243800
HP:0012733	Macule	2175	FANCA	OMIM:227650
HP:0012733	Macule	55215	FANCI	OMIM:609053
HP:0012733	Macule	472	ATM	OMIM:208900
HP:0012733	Macule	2188	FANCF	OMIM:603467
HP:0012733	Macule	284058	KANSL1	ORPHA:363958
HP:0012733	Macule	284058	KANSL1	ORPHA:363965
HP:0012733	Macule	3481	IGF2	OMIM:180860
HP:0012733	Macule	3481	IGF2	ORPHA:397590
HP:0012733	Macule	2178	FANCE	OMIM:600901
HP:0012733	Macule	7156	TOP3A	OMIM:618097
HP:0012733	Macule	2475	MTOR	ORPHA:457485
HP:0012733	Macule	2475	MTOR	OMIM:616638
HP:0012733	Macule	6663	SOX10	OMIM:611584
HP:0012733	Macule	51729	WBP11	OMIM:619227
HP:0012733	Macule	5116	PCNT	OMIM:210720
HP:0012733	Macule	4771	NF2	OMIM:101000
HP:0012733	Macule	699	BUB1	OMIM:620183
HP:0012733	Macule	1186	CLCN7	OMIM:618541
HP:0012733	Macule	1387	CREBBP	OMIM:180849
HP:0012733	Macule	2033	EP300	OMIM:180849
HP:0012733	Macule	10283	CWC27	OMIM:250410
HP:0012733	Macule	10283	CWC27	ORPHA:166035
HP:0012733	Macule	8936	WASF1	OMIM:618707
HP:0012733	Macule	55719	SLF2	OMIM:620184
HP:0012733	Macule	285590	SH3PXD2B	OMIM:249420
HP:0012733	Macule	9702	CEP57	OMIM:614114
HP:0012733	Macule	1028	CDKN1C	ORPHA:397590
HP:0012733	Macule	5324	PLAG1	ORPHA:397590
HP:0012733	Macule	8091	HMGA2	ORPHA:397590
HP:0012733	Macule	641	BLM	OMIM:210900
HP:0012733	Macule	641	BLM	ORPHA:125
HP:0012733	Macule	5500	PPP1CB	OMIM:617506
HP:0012733	Macule	79728	PALB2	OMIM:610832
HP:0012733	Macule	675	BRCA2	OMIM:605724
HP:0012733	Macule	2177	FANCD2	OMIM:227646
HP:0012733	Macule	55120	FANCL	OMIM:614083
HP:0012733	Macule	9968	MED12	OMIM:300895
HP:0012733	Macule	4221	MEN1	OMIM:131100
HP:0012733	Macule	9652	SKIC3	OMIM:222470
HP:0012733	Macule	9652	SKIC3	ORPHA:84064
HP:0012733	Macule	55023	PHIP	OMIM:617991
HP:0012733	Macule	55023	PHIP	ORPHA:589905
HP:0012733	Macule	1315	COPB1	OMIM:619255
HP:0012733	Macule	84464	SLX4	OMIM:613951
HP:0012733	Macule	157570	ESCO2	OMIM:268300
HP:0012733	Macule	6595	SMARCA2	OMIM:601358
HP:0012733	Macule	867	CBL	OMIM:613563
HP:0012733	Macule	6499	SKIC2	ORPHA:84064
HP:0012733	Macule	22907	DHX30	OMIM:617804
HP:0012733	Macule	5426	POLE	OMIM:618336
HP:0012733	Macule	8085	KMT2D	OMIM:147920
HP:0012733	Macule	7403	KDM6A	OMIM:147920
HP:0012733	Macule	25778	DSTYK	ORPHA:101003
HP:0012733	Macule	25778	DSTYK	OMIM:270750
HP:0012733	Macule	5573	PRKAR1A	OMIM:160980
HP:0012733	Macule	5573	PRKAR1A	ORPHA:1359
HP:0012733	Macule	5605	MAP2K2	OMIM:615280
HP:0012733	Macule	5605	MAP2K2	ORPHA:1340
HP:0012733	Macule	8036	SHOC2	OMIM:607721
HP:0012733	Macule	5781	PTPN11	OMIM:151100
HP:0012733	Macule	5781	PTPN11	ORPHA:500
HP:0012733	Macule	5594	MAPK1	OMIM:619087
HP:0012733	Macule	4893	NRAS	OMIM:613224
HP:0012733	Macule	5894	RAF1	OMIM:611554
HP:0012733	Macule	5894	RAF1	OMIM:611553
HP:0012733	Macule	5894	RAF1	ORPHA:500
HP:0012733	Macule	5604	MAP2K1	ORPHA:1340
HP:0012733	Macule	3845	KRAS	ORPHA:1340
HP:0012733	Macule	50940	PDE11A	ORPHA:1359
HP:0012733	Macule	23141	ANKLE2	OMIM:616681
HP:0012733	Macule	112858	TP53RK	OMIM:617730
HP:0012733	Macule	3815	KIT	OMIM:154800
HP:0012733	Macule	3815	KIT	ORPHA:79455
HP:0012733	Macule	23135	KDM6B	OMIM:618505
HP:0012733	Macule	5290	PIK3CA	ORPHA:60040
HP:0012733	Macule	60	ACTB	ORPHA:64755
HP:0012733	Macule	3569	IL6	OMIM:148000
HP:0012733	Macule	4254	KITLG	OMIM:145250
HP:0012733	Macule	4254	KITLG	OMIM:619947
HP:0012733	Macule	2261	FGFR3	ORPHA:53271
HP:0012733	Macule	56983	POGLUT1	ORPHA:79145
HP:0012733	Macule	3852	KRT5	ORPHA:79145
HP:0012733	Macule	3852	KRT5	ORPHA:79397
HP:0012733	Macule	3852	KRT5	ORPHA:79399
HP:0012733	Macule	23509	POFUT1	ORPHA:79145
HP:0012733	Macule	55851	PSENEN	ORPHA:79145
HP:0012733	Macule	56916	SMARCAD1	OMIM:129200
HP:0012733	Macule	7507	XPA	OMIM:278700
HP:0012733	Macule	7507	XPA	ORPHA:910
HP:0012733	Macule	1161	ERCC8	ORPHA:90321
HP:0012733	Macule	1161	ERCC8	ORPHA:90322
HP:0012733	Macule	2072	ERCC4	ORPHA:90321
HP:0012733	Macule	2072	ERCC4	ORPHA:910
HP:0012733	Macule	2074	ERCC6	ORPHA:90321
HP:0012733	Macule	2074	ERCC6	ORPHA:90322
HP:0012733	Macule	2074	ERCC6	OMIM:278800
HP:0012733	Macule	2776	GNAQ	ORPHA:624
HP:0012733	Macule	2067	ERCC1	ORPHA:90322
HP:0012733	Macule	4000	LMNA	ORPHA:740
HP:0012733	Macule	10269	ZMPSTE24	ORPHA:740
HP:0012733	Macule	50485	SMARCAL1	ORPHA:1830
HP:0012733	Macule	50485	SMARCAL1	OMIM:242900
HP:0012733	Macule	10058	ABCB6	OMIM:615402
HP:0012733	Macule	10058	ABCB6	ORPHA:241
HP:0012733	Macule	488	ATP2A2	ORPHA:218
HP:0012733	Macule	488	ATP2A2	OMIM:124200
HP:0012733	Macule	7132	TNFRSF1A	ORPHA:32960
HP:0012733	Macule	2778	GNAS	ORPHA:2762
HP:0012733	Macule	1536	CYBB	ORPHA:379
HP:0012733	Macule	4688	NCF2	ORPHA:379
HP:0012733	Macule	1535	CYBA	ORPHA:379
HP:0012733	Macule	4689	NCF4	ORPHA:379
HP:0012733	Macule	653361	NCF1	ORPHA:379
HP:0012733	Macule	79415	CYBC1	ORPHA:379
HP:0012733	Macule	8869	ST3GAL5	OMIM:609056
HP:0012733	Macule	54	ACP5	OMIM:607944
HP:0012733	Macule	716	C1S	ORPHA:75392
HP:0012733	Macule	715	C1R	ORPHA:75392
HP:0012733	Macule	3643	INSR	OMIM:246200
HP:0012733	Macule	1663	DDX11	OMIM:613398
HP:0012733	Macule	6794	STK11	OMIM:175200
HP:0012733	Macule	5339	PLEC	ORPHA:79401
HP:0012733	Macule	4313	MMP2	OMIM:259600
HP:0012733	Macule	23328	SASH1	OMIM:618373
HP:0012733	Macule	80169	CTC1	ORPHA:1775
HP:0012733	Macule	26277	TINF2	ORPHA:1775
HP:0012733	Macule	55651	NHP2	ORPHA:1775
HP:0012733	Macule	79650	USB1	ORPHA:1775
HP:0012733	Macule	55135	WRAP53	ORPHA:1775
HP:0012733	Macule	51750	RTEL1	ORPHA:1775
HP:0012733	Macule	4869	NPM1	ORPHA:1775
HP:0012733	Macule	7012	TERC	ORPHA:1775
HP:0012733	Macule	55505	NOP10	ORPHA:1775
HP:0012733	Macule	5073	PARN	ORPHA:1775
HP:0012733	Macule	7015	TERT	ORPHA:1775
HP:0012733	Macule	1736	DKC1	ORPHA:1775
HP:0012733	Macule	7298	TYMS	ORPHA:1775
HP:0012733	Macule	10457	GPNMB	OMIM:617920
HP:0012733	Macule	2697	GJA1	ORPHA:317
HP:0012733	Macule	2707	GJB3	ORPHA:317
HP:0012733	Macule	2531	KDSR	ORPHA:317
HP:0012733	Macule	127534	GJB4	ORPHA:317
HP:0012733	Macule	3861	KRT14	ORPHA:79397
HP:0012733	Macule	3861	KRT14	ORPHA:79399
HP:0012733	Macule	4763	NF1	ORPHA:97685
HP:0012733	Macule	2068	ERCC2	ORPHA:910
HP:0012733	Macule	2071	ERCC3	ORPHA:910
HP:0012733	Macule	7508	XPC	ORPHA:910
HP:0012733	Macule	1643	DDB2	ORPHA:910
HP:0012733	Macule	2073	ERCC5	ORPHA:910
HP:0012733	Macule	1027	CDKN1B	ORPHA:652
HP:0012733	Macule	1026	CDKN1A	ORPHA:652
HP:0012733	Macule	1030	CDKN2B	ORPHA:652
HP:0012733	Macule	1031	CDKN2C	ORPHA:652
HP:0012733	Macule	1308	COL17A1	OMIM:619787
HP:0012733	Macule	2783	GNB2	OMIM:619503
HP:0012733	Macule	6418	SET	OMIM:618106
HP:0012733	Macule	5932	RBBP8	OMIM:606744
HP:0012733	Macule	9319	TRIP13	OMIM:617598
HP:0012733	Macule	673	BRAF	OMIM:613707
HP:0012733	Macule	23556	PIGN	ORPHA:280633
HP:0012733	Macule	4841	NONO	ORPHA:466791
HP:0012733	Macule	4436	MSH2	OMIM:619096
HP:0012733	Macule	2956	MSH6	OMIM:619097
HP:0012733	Macule	5980	REV3L	ORPHA:570
HP:0012733	Macule	23129	PLXND1	ORPHA:570
HP:0012733	Macule	11253	MAN1B1	ORPHA:397941
HP:0012733	Macule	2189	FANCG	OMIM:614082
HP:0012733	Macule	2189	FANCG	ORPHA:84
HP:0012733	Macule	8242	KDM5C	ORPHA:85279
HP:0012733	Macule	672	BRCA1	ORPHA:84
HP:0012733	Macule	10459	MAD2L2	ORPHA:84
HP:0012733	Macule	7516	XRCC2	ORPHA:84
HP:0012733	Macule	29089	UBE2T	ORPHA:84
HP:0012733	Macule	2187	FANCB	ORPHA:84
HP:0012733	Macule	5888	RAD51	ORPHA:84
HP:0012733	Macule	5889	RAD51C	ORPHA:84
HP:0012733	Macule	55159	RFWD3	ORPHA:84
HP:0012733	Macule	83990	BRIP1	ORPHA:84
HP:0012733	Macule	83990	BRIP1	OMIM:609054
HP:0012733	Macule	57697	FANCM	ORPHA:84
HP:0012733	Macule	11322	TMC6	ORPHA:302
HP:0012733	Macule	3574	IL7	ORPHA:302
HP:0012733	Macule	147138	TMC8	ORPHA:302
HP:0012733	Macule	10519	CIB1	ORPHA:302
HP:0012733	Macule	4292	MLH1	OMIM:276300
HP:0012733	Macule	117581	TWIST2	ORPHA:1807
HP:0012733	Macule	8626	TP63	ORPHA:69085
HP:0012733	Macule	9184	BUB3	ORPHA:1052
HP:0012733	Macule	701	BUB1B	ORPHA:1052
HP:0012733	Macule	5395	PMS2	OMIM:619101
HP:0012733	Macule	2767	GNA11	ORPHA:1556
HP:0012733	Macule	151188	ARL6IP6	ORPHA:1556
HP:0012733	Macule	7249	TSC2	OMIM:613254
HP:0012733	Macule	7249	TSC2	ORPHA:805
HP:0012733	Macule	3458	IFNG	OMIM:613254
HP:0012733	Macule	3458	IFNG	ORPHA:805
HP:0012733	Macule	7248	TSC1	ORPHA:805
HP:0012733	Macule	7248	TSC1	OMIM:191100
HP:0012733	Macule	134218	DNAJC21	OMIM:617052
HP:0012733	Macule	374969	SVBP	OMIM:618569
HP:0012733	Macule	64840	PORCN	ORPHA:2092
HP:0012733	Macule	3119	HLA-DQB1	ORPHA:703
HP:0012733	Macule	3123	HLA-DRB1	ORPHA:703
HP:0012733	Macule	5590	PRKCZ	ORPHA:1606
HP:0012733	Macule	2563	GABRD	ORPHA:1606
HP:0012733	Macule	23013	SPEN	ORPHA:1606
HP:0012733	Macule	8510	MMP23B	ORPHA:1606
HP:0012733	Macule	7798	LUZP1	ORPHA:1606
HP:0012733	Macule	6497	SKI	ORPHA:1606
HP:0012733	Macule	10630	PDPN	ORPHA:1606
HP:0012733	Macule	3339	HSPG2	ORPHA:1606
HP:0012733	Macule	10277	UBE4B	ORPHA:1606
HP:0012733	Macule	8514	KCNAB2	ORPHA:1606
HP:0012733	Macule	473	RERE	ORPHA:1606
HP:0012733	Macule	63976	PRDM16	ORPHA:1606
HP:0012733	Macule	54897	CASZ1	ORPHA:1606
HP:0012733	Macule	6785	ELOVL4	ORPHA:1955
HP:0012733	Macule	6591	SNAI2	ORPHA:2884
HP:0012733	Macule	103	ADAR	ORPHA:41
HP:0012733	Macule	3106	HLA-B	ORPHA:36426
HP:0012733	Macule	10320	IKZF1	ORPHA:36426
HP:0012733	Macule	102	ADAM10	OMIM:615537
HP:0012733	Macule	10483	SEC23B	ORPHA:201
HP:0012733	Macule	5728	PTEN	ORPHA:201
HP:0012733	Macule	6390	SDHB	ORPHA:201
HP:0012733	Macule	6392	SDHD	ORPHA:201
HP:0012733	Macule	6391	SDHC	ORPHA:201
HP:0012733	Macule	207	AKT1	ORPHA:201
HP:0012733	Macule	205717	USF3	ORPHA:201
HP:0012733	Macule	100144748	KLLN	ORPHA:201
HP:0012733	Macule	9333	TGM5	ORPHA:263534
HP:0012733	Macule	1475	CSTA	ORPHA:263534
HP:0012733	Macule	1281	COL3A1	ORPHA:286
HP:0012733	Macule	5167	ENPP1	OMIM:615522
HP:0012733	Macule	23384	SPECC1L	OMIM:145420
HP:0012733	Macule	2050	EPHB4	ORPHA:137667
HP:0012733	Macule	5921	RASA1	ORPHA:137667
HP:0012733	Macule	2176	FANCC	OMIM:227645
HP:0012733	Macule	5580	PRKCD	OMIM:615559
HP:0011400	Abnormal CNS myelination	199857	ALG14	OMIM:619031
HP:0011400	Abnormal CNS myelination	199857	ALG14	OMIM:619036
HP:0011400	Abnormal CNS myelination	9131	AIFM1	OMIM:300232
HP:0011400	Abnormal CNS myelination	26235	FBXL4	OMIM:615471
HP:0011400	Abnormal CNS myelination	8367	H4C5	OMIM:619950
HP:0011400	Abnormal CNS myelination	104	ADARB1	OMIM:618862
HP:0011400	Abnormal CNS myelination	375	ARF1	OMIM:618185
HP:0011400	Abnormal CNS myelination	2775	GNAO1	OMIM:615473
HP:0011400	Abnormal CNS myelination	2775	GNAO1	OMIM:617493
HP:0011400	Abnormal CNS myelination	6873	TAF2	OMIM:615599
HP:0011400	Abnormal CNS myelination	10059	DNM1L	OMIM:614388
HP:0011400	Abnormal CNS myelination	55823	VPS11	ORPHA:466934
HP:0011400	Abnormal CNS myelination	23417	MLYCD	OMIM:248360
HP:0011400	Abnormal CNS myelination	4897	NRCAM	OMIM:619833
HP:0011400	Abnormal CNS myelination	347734	SLC35B2	OMIM:620269
HP:0011400	Abnormal CNS myelination	81570	CLPB	OMIM:619835
HP:0011400	Abnormal CNS myelination	51343	FZR1	OMIM:620145
HP:0011400	Abnormal CNS myelination	23126	POGZ	ORPHA:468678
HP:0011400	Abnormal CNS myelination	23126	POGZ	OMIM:616364
HP:0011400	Abnormal CNS myelination	51506	UFC1	OMIM:618076
HP:0011400	Abnormal CNS myelination	283489	CHAMP1	OMIM:616579
HP:0011400	Abnormal CNS myelination	387787	LIPT2	OMIM:617668
HP:0011400	Abnormal CNS myelination	57465	TBC1D24	ORPHA:352596
HP:0011400	Abnormal CNS myelination	4010	LMX1B	ORPHA:495818
HP:0011400	Abnormal CNS myelination	6812	STXBP1	ORPHA:495818
HP:0011400	Abnormal CNS myelination	6812	STXBP1	OMIM:612164
HP:0011400	Abnormal CNS myelination	478	ATP1A3	OMIM:619606
HP:0011400	Abnormal CNS myelination	166378	AFG2A	OMIM:616577
HP:0011400	Abnormal CNS myelination	65082	VPS33A	OMIM:617303
HP:0011400	Abnormal CNS myelination	10730	YME1L1	OMIM:617302
HP:0011400	Abnormal CNS myelination	375387	NRROS	OMIM:618875
HP:0011400	Abnormal CNS myelination	80055	PGAP1	OMIM:615802
HP:0011400	Abnormal CNS myelination	5610	EIF2AK2	OMIM:618877
HP:0011400	Abnormal CNS myelination	3781	KCNN2	OMIM:619725
HP:0011400	Abnormal CNS myelination	9915	ARNT2	OMIM:615926
HP:0011400	Abnormal CNS myelination	57582	KCNT1	OMIM:614959
HP:0011400	Abnormal CNS myelination	79693	YRDC	OMIM:619609
HP:0011400	Abnormal CNS myelination	57492	ARID1B	OMIM:135900
HP:0011400	Abnormal CNS myelination	55870	ASH1L	OMIM:617796
HP:0011400	Abnormal CNS myelination	6884	TAF13	OMIM:617432
HP:0011400	Abnormal CNS myelination	7528	YY1	OMIM:617557
HP:0011400	Abnormal CNS myelination	5191	PEX7	OMIM:215100
HP:0011400	Abnormal CNS myelination	501	ALDH7A1	ORPHA:3006
HP:0011400	Abnormal CNS myelination	11212	PLPBP	ORPHA:3006
HP:0011400	Abnormal CNS myelination	652	BMP4	OMIM:607932
HP:0011400	Abnormal CNS myelination	1656	DDX6	OMIM:618653
HP:0011400	Abnormal CNS myelination	55703	POLR3B	OMIM:619742
HP:0011400	Abnormal CNS myelination	497661	C18orf32	OMIM:619985
HP:0011400	Abnormal CNS myelination	23327	NEDD4L	OMIM:617201
HP:0011400	Abnormal CNS myelination	132158	GLYCTK	OMIM:220120
HP:0011400	Abnormal CNS myelination	833	CARS1	OMIM:618891
HP:0011400	Abnormal CNS myelination	57178	ZMIZ1	OMIM:618659
HP:0011400	Abnormal CNS myelination	2783	GNB2	OMIM:619503
HP:0011400	Abnormal CNS myelination	25942	SIN3A	OMIM:613406
HP:0011400	Abnormal CNS myelination	7915	ALDH5A1	OMIM:271980
HP:0011400	Abnormal CNS myelination	27245	AHDC1	OMIM:615829
HP:0011400	Abnormal CNS myelination	1499	CTNNB1	ORPHA:404473
HP:0011400	Abnormal CNS myelination	9653	HS2ST1	OMIM:619194
HP:0011400	Abnormal CNS myelination	5518	PPP2R1A	OMIM:616362
HP:0011400	Abnormal CNS myelination	1186	CLCN7	OMIM:618541
HP:0011400	Abnormal CNS myelination	55768	NGLY1	OMIM:615273
HP:0011400	Abnormal CNS myelination	1182	CLCN3	OMIM:619512
HP:0011400	Abnormal CNS myelination	1182	CLCN3	OMIM:619517
HP:0011400	Abnormal CNS myelination	149371	EXOC8	OMIM:619076
HP:0011400	Abnormal CNS myelination	54914	FOCAD	OMIM:619991
HP:0011400	Abnormal CNS myelination	56006	SMG9	OMIM:616920
HP:0011400	Abnormal CNS myelination	116115	ZNF526	OMIM:619877
HP:0011400	Abnormal CNS myelination	4191	MDH2	OMIM:617339
HP:0011400	Abnormal CNS myelination	83475	DOHH	OMIM:620066
HP:0011400	Abnormal CNS myelination	6609	SMPD1	OMIM:257200
HP:0011400	Abnormal CNS myelination	728294	D2HGDH	OMIM:600721
HP:0011400	Abnormal CNS myelination	9276	COPB2	OMIM:619884
HP:0011400	Abnormal CNS myelination	9276	COPB2	OMIM:617800
HP:0011400	Abnormal CNS myelination	7358	UGDH	OMIM:618792
HP:0011400	Abnormal CNS myelination	113179	ADAT3	OMIM:615286
HP:0011400	Abnormal CNS myelination	4849	CNOT3	OMIM:618672
HP:0011400	Abnormal CNS myelination	6506	SLC1A2	OMIM:617105
HP:0011400	Abnormal CNS myelination	9440	MED17	OMIM:613668
HP:0011400	Abnormal CNS myelination	25828	TXN2	OMIM:616811
HP:0011400	Abnormal CNS myelination	10430	TMEM147	OMIM:620075
HP:0011400	Abnormal CNS myelination	22880	MORC2	OMIM:619090
HP:0011400	Abnormal CNS myelination	4677	NARS1	OMIM:619091
HP:0011400	Abnormal CNS myelination	7143	TNR	OMIM:619653
HP:0011400	Abnormal CNS myelination	7355	SLC35A2	OMIM:300896
HP:0011400	Abnormal CNS myelination	55120	FANCL	OMIM:614083
HP:0011400	Abnormal CNS myelination	197258	FCSK	OMIM:618324
HP:0011400	Abnormal CNS myelination	85365	ALG2	OMIM:607906
HP:0011400	Abnormal CNS myelination	3798	KIF5A	OMIM:617235
HP:0011400	Abnormal CNS myelination	27086	FOXP1	OMIM:613670
HP:0011400	Abnormal CNS myelination	8218	CLTCL1	ORPHA:453510
HP:0011400	Abnormal CNS myelination	9725	TMEM63A	OMIM:618688
HP:0011400	Abnormal CNS myelination	23219	FBXO28	OMIM:619777
HP:0011400	Abnormal CNS myelination	50628	GEMIN4	OMIM:617913
HP:0011400	Abnormal CNS myelination	2146	EZH2	OMIM:277590
HP:0011400	Abnormal CNS myelination	84978	FRMD5	OMIM:620094
HP:0011400	Abnormal CNS myelination	404672	GTF2H5	OMIM:616395
HP:0011400	Abnormal CNS myelination	51645	PPIL1	OMIM:619301
HP:0011400	Abnormal CNS myelination	8295	TRRAP	OMIM:618454
HP:0011400	Abnormal CNS myelination	10159	ATP6AP2	OMIM:300423
HP:0011400	Abnormal CNS myelination	7040	TGFB1	OMIM:618213
HP:0011400	Abnormal CNS myelination	51362	CDC40	OMIM:619302
HP:0011400	Abnormal CNS myelination	58497	PRUNE1	OMIM:617481
HP:0011400	Abnormal CNS myelination	51693	TRAPPC2L	OMIM:618331
HP:0011400	Abnormal CNS myelination	84188	FAR1	OMIM:616154
HP:0011400	Abnormal CNS myelination	5813	PURA	OMIM:616158
HP:0011400	Abnormal CNS myelination	22907	DHX30	OMIM:617804
HP:0011400	Abnormal CNS myelination	51013	EXOSC1	OMIM:619304
HP:0011400	Abnormal CNS myelination	2744	GLS	OMIM:618339
HP:0011400	Abnormal CNS myelination	81603	TRIM8	OMIM:619428
HP:0011400	Abnormal CNS myelination	339453	TMEM240	OMIM:607454
HP:0011400	Abnormal CNS myelination	9230	RAB11B	OMIM:617807
HP:0011400	Abnormal CNS myelination	55906	ZC4H2	OMIM:301041
HP:0011400	Abnormal CNS myelination	79876	UBA5	OMIM:617132
HP:0011400	Abnormal CNS myelination	30000	TNPO2	OMIM:619556
HP:0011400	Abnormal CNS myelination	2187	FANCB	OMIM:300514
HP:0011400	Abnormal CNS myelination	51412	ACTL6B	OMIM:618468
HP:0011400	Abnormal CNS myelination	55746	NUP133	OMIM:618349
HP:0011400	Abnormal CNS myelination	85358	SHANK3	OMIM:606232
HP:0011400	Abnormal CNS myelination	79796	ALG9	OMIM:608776
HP:0011400	Abnormal CNS myelination	23028	KDM1A	OMIM:616728
HP:0011400	Abnormal CNS myelination	170302	ARX	OMIM:308350
HP:0011400	Abnormal CNS myelination	128869	PIGU	OMIM:618590
HP:0011400	Abnormal CNS myelination	7707	ZNF148	OMIM:617260
HP:0011400	Abnormal CNS myelination	5515	PPP2CA	OMIM:618354
HP:0011400	Abnormal CNS myelination	6567	SLC16A2	OMIM:300523
HP:0011400	Abnormal CNS myelination	79868	ALG13	OMIM:300884
HP:0011400	Abnormal CNS myelination	51601	LIPT1	OMIM:616299
HP:0011400	Abnormal CNS myelination	473	RERE	OMIM:616975
HP:0011400	Abnormal CNS myelination	6513	SLC2A1	OMIM:608885
HP:0011400	Abnormal CNS myelination	23097	CDK19	OMIM:618916
HP:0011400	Abnormal CNS myelination	16	AARS1	OMIM:619691
HP:0011400	Abnormal CNS myelination	10588	MTHFS	OMIM:618367
HP:0011400	Abnormal CNS myelination	23221	RHOBTB2	OMIM:618004
HP:0011400	Abnormal CNS myelination	63925	ZNF335	OMIM:615095
HP:0011400	Abnormal CNS myelination	22930	RAB3GAP1	OMIM:600118
HP:0011400	Abnormal CNS myelination	112939	NACC1	OMIM:617393
HP:0011400	Abnormal CNS myelination	54496	PRMT7	OMIM:617157
HP:0011400	Abnormal CNS myelination	5530	PPP3CA	OMIM:617711
HP:0011400	Abnormal CNS myelination	10352	WARS2	OMIM:617710
HP:0011400	Abnormal CNS myelination	23511	NUP188	OMIM:618804
HP:0011400	Abnormal CNS myelination	26007	TKFC	OMIM:618805
HP:0011400	Abnormal CNS myelination	3054	HCFC1	OMIM:309541
HP:0011400	Abnormal CNS myelination	51608	GET4	OMIM:620200
HP:0011400	Abnormal CNS myelination	4594	MMUT	OMIM:251000
HP:0011400	Abnormal CNS myelination	2898	GRIK2	OMIM:619580
HP:0011400	Abnormal CNS myelination	11342	RNF13	OMIM:618379
HP:0011400	Abnormal CNS myelination	9758	FRMPD4	OMIM:300983
HP:0011400	Abnormal CNS myelination	4761	NEUROD2	OMIM:618374
HP:0011400	Abnormal CNS myelination	54664	TMEM106B	OMIM:617964
HP:0011400	Abnormal CNS myelination	6785	ELOVL4	OMIM:614457
HP:0011400	Abnormal CNS myelination	8883	NAE1	OMIM:620210
HP:0011400	Abnormal CNS myelination	8943	AP3D1	OMIM:617050
HP:0011400	Abnormal CNS myelination	57498	KIDINS220	OMIM:617296
HP:0011400	Abnormal CNS myelination	51095	TRNT1	OMIM:616084
HP:0011400	Abnormal CNS myelination	51501	HIKESHI	OMIM:616881
HP:0011400	Abnormal CNS myelination	94005	PIGS	OMIM:618143
HP:0011400	Abnormal CNS myelination	57468	SLC12A5	OMIM:616645
HP:0011400	Abnormal CNS myelination	3747	KCNC2	OMIM:619913
HP:0011400	Abnormal CNS myelination	1213	CLTC	OMIM:617854
HP:0011400	Abnormal CNS myelination	91461	PKDCC	OMIM:618821
HP:0011400	Abnormal CNS myelination	8452	CUL3	OMIM:619239
HP:0011400	Abnormal CNS myelination	4329	ALDH6A1	OMIM:614105
HP:0011400	Abnormal CNS myelination	3704	ITPA	OMIM:616647
HP:0011400	Abnormal CNS myelination	100147744	RNU7-1	OMIM:619487
HP:0011400	Abnormal CNS myelination	8567	MADD	OMIM:619004
HP:0011400	Abnormal CNS myelination	8567	MADD	OMIM:619005
HP:0011400	Abnormal CNS myelination	51124	IER3IP1	OMIM:614231
HP:0011400	Abnormal CNS myelination	2566	GABRG2	OMIM:618396
HP:0011400	Abnormal CNS myelination	57570	TRMT5	OMIM:616539
HP:0011400	Abnormal CNS myelination	9739	SETD1A	OMIM:618832
HP:0011400	Abnormal CNS myelination	6509	SLC1A4	OMIM:616657
HP:0011400	Abnormal CNS myelination	8911	CACNA1I	OMIM:620114
HP:0011400	Abnormal CNS myelination	617	BCS1L	OMIM:124000
HP:0011400	Abnormal CNS myelination	95	ACY1	OMIM:609924
HP:0011400	Abnormal CNS myelination	6529	SLC6A1	OMIM:616421
HP:0011400	Abnormal CNS myelination	23154	NCDN	OMIM:619373
HP:0011400	Abnormal CNS myelination	5455	POU3F3	OMIM:618604
HP:0011400	Abnormal CNS myelination	5430	POLR2A	OMIM:618603
HP:0011400	Abnormal CNS myelination	81615	TMEM163	OMIM:620243
HP:0011400	Abnormal CNS myelination	9939	RBM8A	OMIM:274000
HP:0011400	Abnormal CNS myelination	124454	EARS2	OMIM:614924
HP:0011400	Abnormal CNS myelination	10079	ATP9A	OMIM:620242
HP:0011400	Abnormal CNS myelination	2801	GOLGA2	OMIM:620240
HP:0011400	Abnormal CNS myelination	64802	NMNAT1	OMIM:619260
HP:0011400	Abnormal CNS myelination	29928	TIMM22	OMIM:618851
HP:0011400	Abnormal CNS myelination	51733	UPB1	OMIM:613161
HP:0011400	Abnormal CNS myelination	57647	DHX37	OMIM:618731
HP:0011400	Abnormal CNS myelination	23404	EXOSC2	OMIM:617763
HP:0011400	Abnormal CNS myelination	221692	PHACTR1	OMIM:618298
HP:0011400	Abnormal CNS myelination	10464	PIBF1	OMIM:617767
HP:0011400	Abnormal CNS myelination	221927	BRAT1	OMIM:614498
HP:0011400	Abnormal CNS myelination	3735	KARS1	OMIM:619196
HP:0011400	Abnormal CNS myelination	5091	PC	OMIM:266150
HP:0011400	Abnormal CNS myelination	54539	NDUFB11	ORPHA:2609
HP:0011400	Abnormal CNS myelination	25915	NDUFAF3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	25915	NDUFAF3	ORPHA:70474
HP:0011400	Abnormal CNS myelination	51103	NDUFAF1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	91942	NDUFAF2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	91942	NDUFAF2	ORPHA:255241
HP:0011400	Abnormal CNS myelination	51300	TIMMDC1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4716	NDUFB10	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4723	NDUFV1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4723	NDUFV1	OMIM:618225
HP:0011400	Abnormal CNS myelination	4723	NDUFV1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	55572	FOXRED1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	55572	FOXRED1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	284184	NDUFAF8	ORPHA:2609
HP:0011400	Abnormal CNS myelination	55863	TMEM126B	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4535	MT-ND1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4537	MT-ND3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4729	NDUFV2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4729	NDUFV2	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4694	NDUFA1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4720	NDUFS2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4720	NDUFS2	ORPHA:70474
HP:0011400	Abnormal CNS myelination	4720	NDUFS2	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4724	NDUFS4	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4724	NDUFS4	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4724	NDUFS4	OMIM:252010
HP:0011400	Abnormal CNS myelination	4726	NDUFS6	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4728	NDUFS8	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4728	NDUFS8	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4722	NDUFS3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4722	NDUFS3	ORPHA:255241
HP:0011400	Abnormal CNS myelination	79133	NDUFAF5	ORPHA:2609
HP:0011400	Abnormal CNS myelination	79133	NDUFAF5	ORPHA:255241
HP:0011400	Abnormal CNS myelination	126328	NDUFA11	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4709	NDUFB3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	80224	NUBPL	ORPHA:2609
HP:0011400	Abnormal CNS myelination	80224	NUBPL	OMIM:618242
HP:0011400	Abnormal CNS myelination	29078	NDUFAF4	ORPHA:2609
HP:0011400	Abnormal CNS myelination	374291	NDUFS7	ORPHA:2609
HP:0011400	Abnormal CNS myelination	374291	NDUFS7	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4700	NDUFA6	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4536	MT-ND2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4719	NDUFS1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4719	NDUFS1	OMIM:618226
HP:0011400	Abnormal CNS myelination	4719	NDUFS1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4715	NDUFB9	ORPHA:2609
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309256
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309271
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309263
HP:0011400	Abnormal CNS myelination	11019	LIAS	OMIM:614462
HP:0011400	Abnormal CNS myelination	6711	SPTBN1	OMIM:619475
HP:0011400	Abnormal CNS myelination	81689	ISCA1	OMIM:617613
HP:0011400	Abnormal CNS myelination	64857	PLEKHG2	OMIM:616763
HP:0011400	Abnormal CNS myelination	100996717	NOTCH2NLC	OMIM:618866
HP:0011400	Abnormal CNS myelination	4001	LMNB1	OMIM:169500
HP:0011400	Abnormal CNS myelination	1605	DAG1	ORPHA:370997
HP:0011400	Abnormal CNS myelination	1605	DAG1	OMIM:616538
HP:0011400	Abnormal CNS myelination	4714	NDUFB8	ORPHA:70474
HP:0011400	Abnormal CNS myelination	9997	SCO2	ORPHA:70474
HP:0011400	Abnormal CNS myelination	6834	SURF1	ORPHA:70474
HP:0011400	Abnormal CNS myelination	6834	SURF1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	51218	GLRX5	ORPHA:401866
HP:0011400	Abnormal CNS myelination	51218	GLRX5	OMIM:616859
HP:0011400	Abnormal CNS myelination	5189	PEX1	OMIM:601539
HP:0011400	Abnormal CNS myelination	122961	ISCA2	OMIM:616370
HP:0011400	Abnormal CNS myelination	5192	PEX10	OMIM:614871
HP:0011400	Abnormal CNS myelination	9409	PEX16	OMIM:614877
HP:0011400	Abnormal CNS myelination	1910	EDNRB	OMIM:277580
HP:0011400	Abnormal CNS myelination	7284	TUFM	OMIM:610678
HP:0011400	Abnormal CNS myelination	51	ACOX1	OMIM:264470
HP:0011400	Abnormal CNS myelination	1340	COX6B1	OMIM:619051
HP:0011400	Abnormal CNS myelination	6389	SDHA	ORPHA:255241
HP:0011400	Abnormal CNS myelination	80704	SLC19A3	ORPHA:255241
HP:0011400	Abnormal CNS myelination	55967	NDUFA12	ORPHA:255241
HP:0011400	Abnormal CNS myelination	51204	TACO1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	137682	NDUFAF6	ORPHA:255241
HP:0011400	Abnormal CNS myelination	5160	PDHA1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	100131801	PET100	ORPHA:255241
HP:0011400	Abnormal CNS myelination	1355	COX15	ORPHA:255241
HP:0011400	Abnormal CNS myelination	1892	ECHS1	ORPHA:255241
HP:0011400	Abnormal CNS myelination	123263	MTFMT	ORPHA:255241
HP:0011400	Abnormal CNS myelination	51079	NDUFA13	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4705	NDUFA10	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4695	NDUFA2	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4697	NDUFA4	ORPHA:255241
HP:0011400	Abnormal CNS myelination	4704	NDUFA9	ORPHA:255241
HP:0011400	Abnormal CNS myelination	57551	TAOK1	OMIM:619575
HP:0011400	Abnormal CNS myelination	23250	ATP11A	OMIM:619851
HP:0011400	Abnormal CNS myelination	727676	SNORD118	OMIM:614561
HP:0011400	Abnormal CNS myelination	103	ADAR	OMIM:615010
HP:0011400	Abnormal CNS myelination	103	ADAR	ORPHA:51
HP:0011400	Abnormal CNS myelination	200205	IBA57	OMIM:615330
HP:0011400	Abnormal CNS myelination	133686	NADK2	ORPHA:431361
HP:0011400	Abnormal CNS myelination	133686	NADK2	OMIM:616034
HP:0011400	Abnormal CNS myelination	7965	AIMP2	OMIM:618006
HP:0011400	Abnormal CNS myelination	2074	ERCC6	OMIM:278800
HP:0011400	Abnormal CNS myelination	85021	REPS1	OMIM:617916
HP:0011400	Abnormal CNS myelination	3431	SP110	ORPHA:79124
HP:0011400	Abnormal CNS myelination	79053	ALG8	ORPHA:79325
HP:0011400	Abnormal CNS myelination	6390	SDHB	OMIM:619224
HP:0011400	Abnormal CNS myelination	8789	FBP2	OMIM:619864
HP:0011400	Abnormal CNS myelination	18	ABAT	OMIM:613163
HP:0011400	Abnormal CNS myelination	55331	ACER3	OMIM:617762
HP:0011400	Abnormal CNS myelination	80169	CTC1	OMIM:612199
HP:0011400	Abnormal CNS myelination	388962	BOLA3	OMIM:614299
HP:0011400	Abnormal CNS myelination	3329	HSPD1	OMIM:612233
HP:0011400	Abnormal CNS myelination	87178	PNPT1	OMIM:614932
HP:0011400	Abnormal CNS myelination	10535	RNASEH2A	OMIM:610333
HP:0011400	Abnormal CNS myelination	10535	RNASEH2A	ORPHA:51
HP:0011400	Abnormal CNS myelination	25939	SAMHD1	OMIM:612952
HP:0011400	Abnormal CNS myelination	25939	SAMHD1	ORPHA:51
HP:0011400	Abnormal CNS myelination	84153	RNASEH2C	ORPHA:51
HP:0011400	Abnormal CNS myelination	79621	RNASEH2B	ORPHA:51
HP:0011400	Abnormal CNS myelination	11277	TREX1	ORPHA:51
HP:0011400	Abnormal CNS myelination	134353	LSM11	ORPHA:51
HP:0011400	Abnormal CNS myelination	64135	IFIH1	ORPHA:51
HP:0011400	Abnormal CNS myelination	84705	GTPBP3	ORPHA:444013
HP:0011400	Abnormal CNS myelination	1161	ERCC8	OMIM:216400
HP:0011400	Abnormal CNS myelination	1161	ERCC8	ORPHA:90322
HP:0011400	Abnormal CNS myelination	2067	ERCC1	ORPHA:90322
HP:0011400	Abnormal CNS myelination	9255	AIMP1	OMIM:260600
HP:0011400	Abnormal CNS myelination	5354	PLP1	OMIM:312080
HP:0011400	Abnormal CNS myelination	11128	POLR3A	OMIM:264090
HP:0011400	Abnormal CNS myelination	1798	DPAGT1	ORPHA:86309
HP:0011400	Abnormal CNS myelination	10617	STAMBP	OMIM:614261
HP:0011400	Abnormal CNS myelination	91452	ACBD5	OMIM:618863
HP:0011400	Abnormal CNS myelination	84504	NKX6-2	ORPHA:527497
HP:0011400	Abnormal CNS myelination	84504	NKX6-2	OMIM:617560
HP:0011400	Abnormal CNS myelination	8506	CNTNAP1	OMIM:618186
HP:0011400	Abnormal CNS myelination	1859	DYRK1A	ORPHA:268261
HP:0011400	Abnormal CNS myelination	60684	TRAPPC11	OMIM:615356
HP:0011400	Abnormal CNS myelination	55627	SMPD4	OMIM:618622
HP:0011400	Abnormal CNS myelination	79753	SNIP1	OMIM:614501
HP:0011400	Abnormal CNS myelination	1119	CHKA	OMIM:620023
HP:0011400	Abnormal CNS myelination	2521	FUS	ORPHA:300605
HP:0011400	Abnormal CNS myelination	80208	SPG11	ORPHA:300605
HP:0011400	Abnormal CNS myelination	10280	SIGMAR1	ORPHA:300605
HP:0011400	Abnormal CNS myelination	10558	SPTLC1	ORPHA:300605
HP:0011400	Abnormal CNS myelination	57679	ALS2	ORPHA:300605
HP:0011400	Abnormal CNS myelination	9533	POLR1C	OMIM:616494
HP:0011400	Abnormal CNS myelination	9533	POLR1C	ORPHA:88637
HP:0011400	Abnormal CNS myelination	221496	LEMD2	OMIM:619322
HP:0011400	Abnormal CNS myelination	90522	YIF1B	OMIM:619125
HP:0011400	Abnormal CNS myelination	1615	DARS1	OMIM:615281
HP:0011400	Abnormal CNS myelination	55182	RNF220	OMIM:619688
HP:0011400	Abnormal CNS myelination	3074	HEXB	OMIM:268800
HP:0011400	Abnormal CNS myelination	3074	HEXB	ORPHA:309155
HP:0011400	Abnormal CNS myelination	5859	QARS1	OMIM:615760
HP:0011400	Abnormal CNS myelination	9442	MED27	OMIM:619286
HP:0011400	Abnormal CNS myelination	5591	PRKDC	OMIM:615966
HP:0011400	Abnormal CNS myelination	2555	GABRA2	OMIM:618557
HP:0011400	Abnormal CNS myelination	55152	DALRD3	OMIM:618910
HP:0011400	Abnormal CNS myelination	5010	CLDN11	OMIM:619328
HP:0011400	Abnormal CNS myelination	25973	PARS2	OMIM:618437
HP:0011400	Abnormal CNS myelination	2558	GABRA5	OMIM:618559
HP:0011400	Abnormal CNS myelination	1650	DDOST	ORPHA:300536
HP:0011400	Abnormal CNS myelination	56915	EXOSC5	OMIM:619576
HP:0011400	Abnormal CNS myelination	79989	IFT56	OMIM:619534
HP:0011400	Abnormal CNS myelination	29920	PYCR2	OMIM:616420
HP:0011400	Abnormal CNS myelination	29920	PYCR2	ORPHA:481152
HP:0011400	Abnormal CNS myelination	9197	SLC33A1	OMIM:614482
HP:0011400	Abnormal CNS myelination	64834	ELOVL1	OMIM:618527
HP:0011400	Abnormal CNS myelination	6709	SPTAN1	OMIM:613477
HP:0011400	Abnormal CNS myelination	2058	EPRS1	OMIM:617951
HP:0011400	Abnormal CNS myelination	5194	PEX13	OMIM:614883
HP:0011400	Abnormal CNS myelination	55005	RMND1	OMIM:614922
HP:0011400	Abnormal CNS myelination	2917	GRM7	OMIM:618922
HP:0011400	Abnormal CNS myelination	8139	GAN	ORPHA:643
HP:0011400	Abnormal CNS myelination	191	AHCY	ORPHA:88618
HP:0011400	Abnormal CNS myelination	205327	C2orf69	OMIM:619423
HP:0011400	Abnormal CNS myelination	523	ATP6V1A	OMIM:618012
HP:0011400	Abnormal CNS myelination	2752	GLUL	OMIM:610015
HP:0011400	Abnormal CNS myelination	55770	EXOC2	OMIM:619306
HP:0011400	Abnormal CNS myelination	79731	NARS2	OMIM:616239
HP:0011400	Abnormal CNS myelination	26005	C2CD3	OMIM:615948
HP:0011400	Abnormal CNS myelination	54332	GDAP1	OMIM:214400
HP:0011400	Abnormal CNS myelination	27152	INTU	OMIM:617926
HP:0011400	Abnormal CNS myelination	5297	PI4KA	OMIM:619708
HP:0011400	Abnormal CNS myelination	7074	TIAM1	OMIM:619908
HP:0011400	Abnormal CNS myelination	6904	TBCD	ORPHA:496641
HP:0011400	Abnormal CNS myelination	10134	BCAP31	OMIM:300475
HP:0011400	Abnormal CNS myelination	10134	BCAP31	ORPHA:369939
HP:0011400	Abnormal CNS myelination	158	ADSL	OMIM:103050
HP:0011400	Abnormal CNS myelination	84992	PIGY	ORPHA:247262
HP:0011400	Abnormal CNS myelination	84720	PIGO	ORPHA:247262
HP:0011400	Abnormal CNS myelination	93210	PGAP3	ORPHA:247262
HP:0011400	Abnormal CNS myelination	284098	PIGW	ORPHA:247262
HP:0011400	Abnormal CNS myelination	27315	PGAP2	ORPHA:247262
HP:0011400	Abnormal CNS myelination	55650	PIGV	ORPHA:247262
HP:0011400	Abnormal CNS myelination	9487	PIGL	ORPHA:247262
HP:0011400	Abnormal CNS myelination	160418	TMTC3	OMIM:617255
HP:0011400	Abnormal CNS myelination	84668	HYCC1	ORPHA:85163
HP:0011400	Abnormal CNS myelination	1528	CYB5A	ORPHA:621
HP:0011400	Abnormal CNS myelination	1727	CYB5R3	ORPHA:621
HP:0011400	Abnormal CNS myelination	8604	SLC25A12	OMIM:612949
HP:0011400	Abnormal CNS myelination	1967	EIF2B1	OMIM:603896
HP:0011400	Abnormal CNS myelination	57165	GJC2	OMIM:608804
HP:0011400	Abnormal CNS myelination	80232	WDR26	ORPHA:513456
HP:0011400	Abnormal CNS myelination	5917	RARS1	ORPHA:438114
HP:0011400	Abnormal CNS myelination	26227	PHGDH	ORPHA:79351
HP:0011400	Abnormal CNS myelination	10382	TUBB4A	OMIM:612438
HP:0011400	Abnormal CNS myelination	55157	DARS2	ORPHA:137898
HP:0011400	Abnormal CNS myelination	79152	FA2H	OMIM:612319
HP:0011400	Abnormal CNS myelination	6663	SOX10	OMIM:609136
HP:0011400	Abnormal CNS myelination	2670	GFAP	OMIM:203450
HP:0011400	Abnormal CNS myelination	5654	HTRA1	OMIM:600142
HP:0011400	Abnormal CNS myelination	215	ABCD1	ORPHA:139396
HP:0011400	Abnormal CNS myelination	54872	PIGG	ORPHA:488635
HP:0011400	Abnormal CNS myelination	25974	MMACHC	ORPHA:79282
HP:0011400	Abnormal CNS myelination	93587	TRMT10A	ORPHA:391408
HP:0011400	Abnormal CNS myelination	84919	PPP1R15B	ORPHA:391408
HP:0011400	Abnormal CNS myelination	79944	L2HGDH	OMIM:236792
HP:0011400	Abnormal CNS myelination	1513	CTSK	ORPHA:763
HP:0011400	Abnormal CNS myelination	9289	ADGRG1	OMIM:606854
HP:0011400	Abnormal CNS myelination	9289	ADGRG1	ORPHA:101070
HP:0011400	Abnormal CNS myelination	3295	HSD17B4	OMIM:261515
HP:0011400	Abnormal CNS myelination	5660	PSAP	OMIM:611722
HP:0011400	Abnormal CNS myelination	2068	ERCC2	ORPHA:33364
HP:0011400	Abnormal CNS myelination	7737	RNF113A	ORPHA:33364
HP:0011400	Abnormal CNS myelination	136647	MPLKIP	ORPHA:33364
HP:0011400	Abnormal CNS myelination	6897	TARS1	ORPHA:33364
HP:0011400	Abnormal CNS myelination	2961	GTF2E2	ORPHA:33364
HP:0011400	Abnormal CNS myelination	5728	PTEN	ORPHA:101070
HP:0011400	Abnormal CNS myelination	57192	MCOLN1	OMIM:252650
HP:0011400	Abnormal CNS myelination	10128	LRPPRC	OMIM:220111
HP:0011400	Abnormal CNS myelination	443	ASPA	OMIM:271900
HP:0011400	Abnormal CNS myelination	1436	CSF1R	OMIM:221820
HP:0011400	Abnormal CNS myelination	4547	MTTP	OMIM:200100
HP:0011400	Abnormal CNS myelination	1593	CYP27A1	ORPHA:909
HP:0011400	Abnormal CNS myelination	5173	PDYN	OMIM:610245
HP:0011400	Abnormal CNS myelination	5824	PEX19	OMIM:614886
HP:0011400	Abnormal CNS myelination	3643	INSR	ORPHA:769
HP:0011400	Abnormal CNS myelination	4143	MAT1A	OMIM:250850
HP:0011400	Abnormal CNS myelination	8496	PPFIBP1	OMIM:620024
HP:0011400	Abnormal CNS myelination	285362	SUMF1	OMIM:272200
HP:0011400	Abnormal CNS myelination	224	ALDH3A2	OMIM:270200
HP:0011400	Abnormal CNS myelination	54209	TREM2	OMIM:618193
HP:0011400	Abnormal CNS myelination	5551	PRF1	OMIM:603553
HP:0011400	Abnormal CNS myelination	3119	HLA-DQB1	OMIM:126200
HP:0011400	Abnormal CNS myelination	5133	PDCD1	OMIM:126200
HP:0011400	Abnormal CNS myelination	3123	HLA-DRB1	OMIM:126200
HP:0011400	Abnormal CNS myelination	5631	PRPS1	ORPHA:1187
HP:0011400	Abnormal CNS myelination	5631	PRPS1	OMIM:301835
HP:0011400	Abnormal CNS myelination	6311	ATXN2	ORPHA:98756
HP:0011400	Abnormal CNS myelination	84987	COX14	OMIM:619053
HP:0011400	Abnormal CNS myelination	2581	GALC	ORPHA:206443
HP:0011400	Abnormal CNS myelination	54828	BCAS3	OMIM:619641
HP:0011400	Abnormal CNS myelination	84706	GPT2	ORPHA:477673
HP:0011400	Abnormal CNS myelination	2548	GAA	OMIM:232300
HP:0011400	Abnormal CNS myelination	8635	RNASET2	OMIM:612951
HP:0011400	Abnormal CNS myelination	2071	ERCC3	OMIM:610651
HP:0011400	Abnormal CNS myelination	23729	SHPK	ORPHA:440713
HP:0011400	Abnormal CNS myelination	5238	PGM3	OMIM:615816
HP:0011400	Abnormal CNS myelination	3425	IDUA	OMIM:607014
HP:0011400	Abnormal CNS myelination	84334	COA8	OMIM:619061
HP:0002521	Hypsarrhythmia	3155	HMGCL	ORPHA:20
HP:0002521	Hypsarrhythmia	8243	SMC1A	OMIM:301044
HP:0002521	Hypsarrhythmia	199857	ALG14	OMIM:619036
HP:0002521	Hypsarrhythmia	340533	NEXMIF	OMIM:300912
HP:0002521	Hypsarrhythmia	9853	RUSC2	OMIM:617773
HP:0002521	Hypsarrhythmia	343450	KCNT2	OMIM:617771
HP:0002521	Hypsarrhythmia	2775	GNAO1	OMIM:615473
HP:0002521	Hypsarrhythmia	2775	GNAO1	ORPHA:1934
HP:0002521	Hypsarrhythmia	10564	ARFGEF2	OMIM:608097
HP:0002521	Hypsarrhythmia	7355	SLC35A2	ORPHA:356961
HP:0002521	Hypsarrhythmia	7355	SLC35A2	OMIM:300896
HP:0002521	Hypsarrhythmia	1798	DPAGT1	OMIM:608093
HP:0002521	Hypsarrhythmia	1798	DPAGT1	ORPHA:86309
HP:0002521	Hypsarrhythmia	9526	MPDU1	OMIM:609180
HP:0002521	Hypsarrhythmia	9526	MPDU1	ORPHA:79323
HP:0002521	Hypsarrhythmia	6328	SCN3A	OMIM:617938
HP:0002521	Hypsarrhythmia	6328	SCN3A	ORPHA:442835
HP:0002521	Hypsarrhythmia	22845	DOLK	ORPHA:91131
HP:0002521	Hypsarrhythmia	22845	DOLK	OMIM:610768
HP:0002521	Hypsarrhythmia	8496	PPFIBP1	OMIM:620024
HP:0002521	Hypsarrhythmia	170302	ARX	OMIM:308350
HP:0002521	Hypsarrhythmia	170302	ARX	ORPHA:3451
HP:0002521	Hypsarrhythmia	170302	ARX	ORPHA:1934
HP:0002521	Hypsarrhythmia	2258	FGF13	OMIM:301058
HP:0002521	Hypsarrhythmia	2258	FGF13	ORPHA:442835
HP:0002521	Hypsarrhythmia	51112	TRAPPC12	ORPHA:500144
HP:0002521	Hypsarrhythmia	51112	TRAPPC12	OMIM:617669
HP:0002521	Hypsarrhythmia	26275	HIBCH	ORPHA:88639
HP:0002521	Hypsarrhythmia	64801	ARV1	OMIM:617020
HP:0002521	Hypsarrhythmia	64801	ARV1	ORPHA:442835
HP:0002521	Hypsarrhythmia	79868	ALG13	OMIM:300884
HP:0002521	Hypsarrhythmia	79868	ALG13	ORPHA:324422
HP:0002521	Hypsarrhythmia	8867	SYNJ1	OMIM:617389
HP:0002521	Hypsarrhythmia	8867	SYNJ1	ORPHA:442835
HP:0002521	Hypsarrhythmia	10659	CELF2	OMIM:619561
HP:0002521	Hypsarrhythmia	10659	CELF2	ORPHA:442835
HP:0002521	Hypsarrhythmia	51506	UFC1	OMIM:618076
HP:0002521	Hypsarrhythmia	3745	KCNB1	OMIM:616056
HP:0002521	Hypsarrhythmia	3745	KCNB1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6487	ST3GAL3	OMIM:615006
HP:0002521	Hypsarrhythmia	6487	ST3GAL3	ORPHA:3451
HP:0002521	Hypsarrhythmia	2782	GNB1	OMIM:616973
HP:0002521	Hypsarrhythmia	7280	TUBB2A	OMIM:615763
HP:0002521	Hypsarrhythmia	112939	NACC1	ORPHA:500545
HP:0002521	Hypsarrhythmia	10565	ARFGEF1	OMIM:619964
HP:0002521	Hypsarrhythmia	55780	ERMARD	ORPHA:75857
HP:0002521	Hypsarrhythmia	55780	ERMARD	OMIM:615544
HP:0002521	Hypsarrhythmia	3767	KCNJ11	ORPHA:79134
HP:0002521	Hypsarrhythmia	3767	KCNJ11	OMIM:618856
HP:0002521	Hypsarrhythmia	79731	NARS2	ORPHA:79134
HP:0002521	Hypsarrhythmia	6833	ABCC8	ORPHA:79134
HP:0002521	Hypsarrhythmia	23097	CDK19	OMIM:618916
HP:0002521	Hypsarrhythmia	23097	CDK19	ORPHA:442835
HP:0002521	Hypsarrhythmia	4763	NF1	OMIM:162200
HP:0002521	Hypsarrhythmia	84340	GFM2	ORPHA:565624
HP:0002521	Hypsarrhythmia	84340	GFM2	OMIM:618397
HP:0002521	Hypsarrhythmia	2560	GABRB1	OMIM:617153
HP:0002521	Hypsarrhythmia	79641	ROGDI	OMIM:226750
HP:0002521	Hypsarrhythmia	150094	SIK1	OMIM:616341
HP:0002521	Hypsarrhythmia	150094	SIK1	ORPHA:3451
HP:0002521	Hypsarrhythmia	150094	SIK1	ORPHA:1935
HP:0002521	Hypsarrhythmia	150094	SIK1	ORPHA:1934
HP:0002521	Hypsarrhythmia	535	ATP6V0A1	OMIM:619970
HP:0002521	Hypsarrhythmia	8120	AP3B2	OMIM:617276
HP:0002521	Hypsarrhythmia	8120	AP3B2	ORPHA:442835
HP:0002521	Hypsarrhythmia	5530	PPP3CA	OMIM:617711
HP:0002521	Hypsarrhythmia	5530	PPP3CA	ORPHA:442835
HP:0002521	Hypsarrhythmia	1759	DNM1	OMIM:616346
HP:0002521	Hypsarrhythmia	1759	DNM1	ORPHA:442835
HP:0002521	Hypsarrhythmia	1759	DNM1	OMIM:620352
HP:0002521	Hypsarrhythmia	6709	SPTAN1	OMIM:613477
HP:0002521	Hypsarrhythmia	6709	SPTAN1	ORPHA:3451
HP:0002521	Hypsarrhythmia	4915	NTRK2	OMIM:617830
HP:0002521	Hypsarrhythmia	4915	NTRK2	ORPHA:442835
HP:0002521	Hypsarrhythmia	4915	NTRK2	ORPHA:3451
HP:0002521	Hypsarrhythmia	9326	ZNHIT3	ORPHA:2836
HP:0002521	Hypsarrhythmia	9326	ZNHIT3	OMIM:260565
HP:0002521	Hypsarrhythmia	547	KIF1A	ORPHA:2836
HP:0002521	Hypsarrhythmia	7965	AIMP2	OMIM:618006
HP:0002521	Hypsarrhythmia	3054	HCFC1	OMIM:309541
HP:0002521	Hypsarrhythmia	26999	CYFIP2	OMIM:618008
HP:0002521	Hypsarrhythmia	26999	CYFIP2	ORPHA:442835
HP:0002521	Hypsarrhythmia	9361	LONP1	ORPHA:79243
HP:0002521	Hypsarrhythmia	5160	PDHA1	ORPHA:79243
HP:0002521	Hypsarrhythmia	501	ALDH7A1	ORPHA:3006
HP:0002521	Hypsarrhythmia	11212	PLPBP	ORPHA:3006
HP:0002521	Hypsarrhythmia	8131	NPRL3	ORPHA:98820
HP:0002521	Hypsarrhythmia	10641	NPRL2	ORPHA:98820
HP:0002521	Hypsarrhythmia	9681	DEPDC5	ORPHA:98820
HP:0002521	Hypsarrhythmia	5805	PTS	ORPHA:13
HP:0002521	Hypsarrhythmia	1327	COX4I1	OMIM:619060
HP:0002521	Hypsarrhythmia	283987	HID1	OMIM:619983
HP:0002521	Hypsarrhythmia	2906	GRIN2D	OMIM:617162
HP:0002521	Hypsarrhythmia	2906	GRIN2D	ORPHA:442835
HP:0002521	Hypsarrhythmia	25930	PTPN23	OMIM:618890
HP:0002521	Hypsarrhythmia	5277	PIGA	OMIM:300868
HP:0002521	Hypsarrhythmia	5277	PIGA	ORPHA:3451
HP:0002521	Hypsarrhythmia	23327	NEDD4L	OMIM:617201
HP:0002521	Hypsarrhythmia	1822	ATN1	OMIM:618494
HP:0002521	Hypsarrhythmia	132158	GLYCTK	OMIM:220120
HP:0002521	Hypsarrhythmia	4761	NEUROD2	OMIM:618374
HP:0002521	Hypsarrhythmia	4761	NEUROD2	ORPHA:1934
HP:0002521	Hypsarrhythmia	84896	ATAD1	OMIM:618011
HP:0002521	Hypsarrhythmia	523	ATP6V1A	OMIM:618012
HP:0002521	Hypsarrhythmia	523	ATP6V1A	ORPHA:442835
HP:0002521	Hypsarrhythmia	2257	FGF12	OMIM:617166
HP:0002521	Hypsarrhythmia	2257	FGF12	ORPHA:442835
HP:0002521	Hypsarrhythmia	1641	DCX	ORPHA:2148
HP:0002521	Hypsarrhythmia	284184	NDUFAF8	OMIM:618776
HP:0002521	Hypsarrhythmia	6304	SATB1	OMIM:619229
HP:0002521	Hypsarrhythmia	3737	KCNA2	ORPHA:442835
HP:0002521	Hypsarrhythmia	10991	SLC38A3	ORPHA:442835
HP:0002521	Hypsarrhythmia	51343	FZR1	ORPHA:442835
HP:0002521	Hypsarrhythmia	22906	TRAK1	ORPHA:442835
HP:0002521	Hypsarrhythmia	2566	GABRG2	ORPHA:442835
HP:0002521	Hypsarrhythmia	1917	EEF1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	1917	EEF1A2	OMIM:616409
HP:0002521	Hypsarrhythmia	2561	GABRB2	ORPHA:442835
HP:0002521	Hypsarrhythmia	8831	SYNGAP1	ORPHA:442835
HP:0002521	Hypsarrhythmia	7532	YWHAG	ORPHA:442835
HP:0002521	Hypsarrhythmia	79876	UBA5	ORPHA:442835
HP:0002521	Hypsarrhythmia	2558	GABRA5	ORPHA:442835
HP:0002521	Hypsarrhythmia	781	CACNA2D1	ORPHA:442835
HP:0002521	Hypsarrhythmia	116150	NUS1	ORPHA:442835
HP:0002521	Hypsarrhythmia	774	CACNA1B	ORPHA:442835
HP:0002521	Hypsarrhythmia	1213	CLTC	ORPHA:442835
HP:0002521	Hypsarrhythmia	51741	WWOX	ORPHA:442835
HP:0002521	Hypsarrhythmia	23334	SZT2	ORPHA:442835
HP:0002521	Hypsarrhythmia	51412	ACTL6B	ORPHA:442835
HP:0002521	Hypsarrhythmia	348980	HCN1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6506	SLC1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	6506	SLC1A2	OMIM:617105
HP:0002521	Hypsarrhythmia	477	ATP1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	284111	SLC13A5	ORPHA:442835
HP:0002521	Hypsarrhythmia	25977	NECAP1	ORPHA:442835
HP:0002521	Hypsarrhythmia	16	AARS1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6334	SCN8A	ORPHA:442835
HP:0002521	Hypsarrhythmia	22866	CNKSR2	ORPHA:442835
HP:0002521	Hypsarrhythmia	9568	GABBR2	ORPHA:442835
HP:0002521	Hypsarrhythmia	9568	GABBR2	OMIM:617904
HP:0002521	Hypsarrhythmia	2555	GABRA2	ORPHA:442835
HP:0002521	Hypsarrhythmia	55152	DALRD3	ORPHA:442835
HP:0002521	Hypsarrhythmia	773	CACNA1A	ORPHA:442835
HP:0002521	Hypsarrhythmia	25973	PARS2	ORPHA:442835
HP:0002521	Hypsarrhythmia	25973	PARS2	OMIM:618437
HP:0002521	Hypsarrhythmia	79947	DHDDS	ORPHA:442835
HP:0002521	Hypsarrhythmia	478	ATP1A3	ORPHA:442835
HP:0002521	Hypsarrhythmia	26040	SETBP1	OMIM:269150
HP:0002521	Hypsarrhythmia	26040	SETBP1	ORPHA:798
HP:0002521	Hypsarrhythmia	443	ASPA	OMIM:271900
HP:0002521	Hypsarrhythmia	6792	CDKL5	OMIM:300672
HP:0002521	Hypsarrhythmia	6792	CDKL5	ORPHA:3451
HP:0002521	Hypsarrhythmia	6792	CDKL5	ORPHA:1934
HP:0002521	Hypsarrhythmia	149371	EXOC8	OMIM:619076
HP:0002521	Hypsarrhythmia	23316	CUX2	OMIM:618141
HP:0002521	Hypsarrhythmia	6812	STXBP1	OMIM:612164
HP:0002521	Hypsarrhythmia	6711	SPTBN1	OMIM:619475
HP:0002521	Hypsarrhythmia	55699	IARS2	OMIM:616007
HP:0002521	Hypsarrhythmia	3747	KCNC2	OMIM:619913
HP:0002521	Hypsarrhythmia	92609	TIMM50	OMIM:617698
HP:0002521	Hypsarrhythmia	92609	TIMM50	ORPHA:505216
HP:0002521	Hypsarrhythmia	8452	CUL3	OMIM:619239
HP:0002521	Hypsarrhythmia	116115	ZNF526	OMIM:619877
HP:0002521	Hypsarrhythmia	85440	DOCK7	ORPHA:411986
HP:0002521	Hypsarrhythmia	85440	DOCK7	OMIM:615859
HP:0002521	Hypsarrhythmia	538	ATP7A	OMIM:309400
HP:0002521	Hypsarrhythmia	378884	NHLRC1	ORPHA:501
HP:0002521	Hypsarrhythmia	7957	EPM2A	ORPHA:501
HP:0002521	Hypsarrhythmia	85365	ALG2	ORPHA:79326
HP:0002521	Hypsarrhythmia	85365	ALG2	OMIM:607906
HP:0002521	Hypsarrhythmia	4247	MGAT2	ORPHA:79329
HP:0002521	Hypsarrhythmia	728294	D2HGDH	OMIM:600721
HP:0002521	Hypsarrhythmia	2571	GAD1	OMIM:619124
HP:0002521	Hypsarrhythmia	60558	GUF1	OMIM:617065
HP:0002521	Hypsarrhythmia	60558	GUF1	ORPHA:3451
HP:0002521	Hypsarrhythmia	51124	IER3IP1	OMIM:614231
HP:0002521	Hypsarrhythmia	26227	PHGDH	OMIM:601815
HP:0002521	Hypsarrhythmia	7358	UGDH	OMIM:618792
HP:0002521	Hypsarrhythmia	56947	MFF	ORPHA:485421
HP:0002521	Hypsarrhythmia	56947	MFF	OMIM:617086
HP:0002521	Hypsarrhythmia	2904	GRIN2B	OMIM:616139
HP:0002521	Hypsarrhythmia	2904	GRIN2B	ORPHA:3451
HP:0002521	Hypsarrhythmia	4190	MDH1	OMIM:618959
HP:0002521	Hypsarrhythmia	9373	PLAA	ORPHA:521426
HP:0002521	Hypsarrhythmia	55704	CCDC88A	OMIM:617507
HP:0002521	Hypsarrhythmia	10297	APC2	OMIM:618677
HP:0002521	Hypsarrhythmia	9440	MED17	OMIM:613668
HP:0002521	Hypsarrhythmia	221692	PHACTR1	ORPHA:3451
HP:0002521	Hypsarrhythmia	221692	PHACTR1	OMIM:618298
HP:0002521	Hypsarrhythmia	10695	CNPY3	ORPHA:3451
HP:0002521	Hypsarrhythmia	10695	CNPY3	OMIM:617929
HP:0002521	Hypsarrhythmia	23236	PLCB1	ORPHA:3451
HP:0002521	Hypsarrhythmia	23236	PLCB1	OMIM:613722
HP:0002521	Hypsarrhythmia	6326	SCN2A	ORPHA:3451
HP:0002521	Hypsarrhythmia	6326	SCN2A	ORPHA:1934
HP:0002521	Hypsarrhythmia	11152	WDR45	ORPHA:3451
HP:0002521	Hypsarrhythmia	10681	GNB5	ORPHA:542306
HP:0002521	Hypsarrhythmia	55739	NAXD	OMIM:618321
HP:0002521	Hypsarrhythmia	284098	PIGW	OMIM:616025
HP:0002521	Hypsarrhythmia	440	ASNS	OMIM:615574
HP:0002521	Hypsarrhythmia	777	CACNA1E	OMIM:618285
HP:0002521	Hypsarrhythmia	2562	GABRB3	OMIM:617113
HP:0002521	Hypsarrhythmia	51227	PIGP	OMIM:617599
HP:0002521	Hypsarrhythmia	51227	PIGP	ORPHA:1934
HP:0002521	Hypsarrhythmia	3785	KCNQ2	ORPHA:439218
HP:0002521	Hypsarrhythmia	79718	TBL1XR1	OMIM:616944
HP:0002521	Hypsarrhythmia	51294	PCDH12	OMIM:251280
HP:0002521	Hypsarrhythmia	64116	SLC39A8	ORPHA:468699
HP:0002521	Hypsarrhythmia	5048	PAFAH1B1	ORPHA:95232
HP:0002521	Hypsarrhythmia	6509	SLC1A4	ORPHA:447997
HP:0002521	Hypsarrhythmia	2801	GOLGA2	OMIM:620240
HP:0002521	Hypsarrhythmia	10195	ALG3	OMIM:601110
HP:0002521	Hypsarrhythmia	51733	UPB1	OMIM:613161
HP:0002521	Hypsarrhythmia	7040	TGFB1	OMIM:618213
HP:0002521	Hypsarrhythmia	1496	CTNNA2	OMIM:618174
HP:0002521	Hypsarrhythmia	55753	OGDHL	OMIM:619701
HP:0002521	Hypsarrhythmia	81603	TRIM8	OMIM:619428
HP:0002521	Hypsarrhythmia	81603	TRIM8	ORPHA:1934
HP:0002521	Hypsarrhythmia	79751	SLC25A22	ORPHA:1935
HP:0002521	Hypsarrhythmia	79751	SLC25A22	ORPHA:1934
HP:0002521	Hypsarrhythmia	3736	KCNA1	ORPHA:1934
HP:0002521	Hypsarrhythmia	9091	PIGQ	ORPHA:1934
HP:0002521	Hypsarrhythmia	2902	GRIN1	ORPHA:1934
HP:0002521	Hypsarrhythmia	8573	CASK	ORPHA:1934
HP:0002521	Hypsarrhythmia	23312	DMXL2	ORPHA:1934
HP:0002521	Hypsarrhythmia	2917	GRM7	ORPHA:1934
HP:0002521	Hypsarrhythmia	11284	PNKP	ORPHA:1934
HP:0002521	Hypsarrhythmia	6324	SCN1B	ORPHA:1934
HP:0002522	Areflexia of lower limbs	87178	PNPT1	ORPHA:101111
HP:0002522	Areflexia of lower limbs	87178	PNPT1	OMIM:608703
HP:0002522	Areflexia of lower limbs	3315	HSPB1	OMIM:608634
HP:0002522	Areflexia of lower limbs	3315	HSPB1	OMIM:606595
HP:0002522	Areflexia of lower limbs	51	ACOX1	OMIM:618960
HP:0002522	Areflexia of lower limbs	4099	MAG	OMIM:616680
HP:0002522	Areflexia of lower limbs	8888	MCM3AP	OMIM:618124
HP:0002522	Areflexia of lower limbs	2395	FXN	OMIM:229300
HP:0002522	Areflexia of lower limbs	2395	FXN	ORPHA:95
HP:0002522	Areflexia of lower limbs	5631	PRPS1	OMIM:311070
HP:0002522	Areflexia of lower limbs	182	JAG1	OMIM:619574
HP:0002522	Areflexia of lower limbs	246243	RNASEH1	ORPHA:329336
HP:0002522	Areflexia of lower limbs	2733	GLE1	OMIM:611890
HP:0002522	Areflexia of lower limbs	1674	DES	ORPHA:98909
HP:0002522	Areflexia of lower limbs	80208	SPG11	OMIM:616668
HP:0002522	Areflexia of lower limbs	1890	TYMP	OMIM:603041
HP:0002522	Areflexia of lower limbs	81846	SBF2	ORPHA:99956
HP:0002522	Areflexia of lower limbs	274	BIN1	ORPHA:169189
HP:0002522	Areflexia of lower limbs	64419	MTMR14	ORPHA:169189
HP:0002522	Areflexia of lower limbs	4618	MYF6	ORPHA:169189
HP:0002522	Areflexia of lower limbs	1785	DNM2	ORPHA:169189
HP:0002522	Areflexia of lower limbs	6261	RYR1	ORPHA:169189
HP:0002522	Areflexia of lower limbs	8139	GAN	OMIM:256850
HP:0002522	Areflexia of lower limbs	6548	SLC9A1	OMIM:616291
HP:0002522	Areflexia of lower limbs	5611	DNAJC3	OMIM:616192
HP:0002522	Areflexia of lower limbs	5611	DNAJC3	ORPHA:445062
HP:0002522	Areflexia of lower limbs	8557	TCAP	OMIM:601954
HP:0002522	Areflexia of lower limbs	3508	IGHMBP2	OMIM:616155
HP:0002522	Areflexia of lower limbs	80347	COASY	OMIM:615643
HP:0002522	Areflexia of lower limbs	547	KIF1A	OMIM:614213
HP:0002522	Areflexia of lower limbs	8884	SLC5A6	OMIM:619903
HP:0002522	Areflexia of lower limbs	84876	ORAI1	OMIM:615883
HP:0002522	Areflexia of lower limbs	5376	PMP22	ORPHA:90658
HP:0002522	Areflexia of lower limbs	374393	FAM111B	OMIM:615704
HP:0002522	Areflexia of lower limbs	3710	ITPR3	OMIM:620111
HP:0002522	Areflexia of lower limbs	26353	HSPB8	OMIM:158590
HP:0002522	Areflexia of lower limbs	6786	STIM1	OMIM:160565
HP:0002522	Areflexia of lower limbs	291	SLC25A4	ORPHA:254892
HP:0002522	Areflexia of lower limbs	5428	POLG	ORPHA:254892
HP:0002522	Areflexia of lower limbs	5428	POLG	OMIM:607459
HP:0002522	Areflexia of lower limbs	56652	TWNK	ORPHA:254892
HP:0002522	Areflexia of lower limbs	56652	TWNK	OMIM:607459
HP:0002522	Areflexia of lower limbs	11232	POLG2	ORPHA:254892
HP:0002522	Areflexia of lower limbs	50484	RRM2B	ORPHA:254892
HP:0002522	Areflexia of lower limbs	1410	CRYAB	OMIM:608810
HP:0002522	Areflexia of lower limbs	4287	ATXN3	OMIM:109150
HP:0002522	Areflexia of lower limbs	57003	CCDC47	OMIM:618268
HP:0002522	Areflexia of lower limbs	3094	HINT1	ORPHA:324442
HP:0002522	Areflexia of lower limbs	80207	OPA3	ORPHA:67036
HP:0002522	Areflexia of lower limbs	8988	HSPB3	OMIM:613376
HP:0002522	Areflexia of lower limbs	7415	VCP	ORPHA:435387
HP:0002522	Areflexia of lower limbs	7415	VCP	OMIM:616687
HP:0002522	Areflexia of lower limbs	22880	MORC2	OMIM:616688
HP:0002522	Areflexia of lower limbs	57863	CADM3	OMIM:619519
HP:0002522	Areflexia of lower limbs	4361	MRE11	ORPHA:251347
HP:0002522	Areflexia of lower limbs	4361	MRE11	OMIM:604391
HP:0002522	Areflexia of lower limbs	5165	PDK3	OMIM:300905
HP:0002522	Areflexia of lower limbs	5165	PDK3	ORPHA:352675
HP:0002522	Areflexia of lower limbs	64837	KLC2	OMIM:609541
HP:0002522	Areflexia of lower limbs	10159	ATP6AP2	ORPHA:93952
HP:0002522	Areflexia of lower limbs	6606	SMN1	OMIM:253400
HP:0002522	Areflexia of lower limbs	6607	SMN2	OMIM:253400
HP:0002522	Areflexia of lower limbs	25894	PLEKHG4	ORPHA:98765
HP:0002522	Areflexia of lower limbs	7879	RAB7A	OMIM:600882
HP:0002522	Areflexia of lower limbs	7504	XK	OMIM:300842
HP:0002522	Areflexia of lower limbs	55958	KLHL9	ORPHA:399081
HP:0002522	Areflexia of lower limbs	5375	PMP2	OMIM:618279
HP:0002522	Areflexia of lower limbs	23204	ARL6IP1	OMIM:615685
HP:0002522	Areflexia of lower limbs	5192	PEX10	OMIM:614871
HP:0002522	Areflexia of lower limbs	65055	REEP1	OMIM:614751
HP:0002522	Areflexia of lower limbs	65055	REEP1	OMIM:620011
HP:0002522	Areflexia of lower limbs	3035	HARS1	ORPHA:488333
HP:0002522	Areflexia of lower limbs	3035	HARS1	OMIM:616625
HP:0002522	Areflexia of lower limbs	26278	SACS	OMIM:270550
HP:0002522	Areflexia of lower limbs	26278	SACS	ORPHA:98
HP:0002522	Areflexia of lower limbs	10280	SIGMAR1	OMIM:605726
HP:0002522	Areflexia of lower limbs	8878	SQSTM1	OMIM:617158
HP:0002522	Areflexia of lower limbs	5832	ALDH18A1	ORPHA:447757
HP:0002522	Areflexia of lower limbs	5832	ALDH18A1	ORPHA:447760
HP:0002522	Areflexia of lower limbs	10020	GNE	ORPHA:602
HP:0002522	Areflexia of lower limbs	2632	GBE1	OMIM:263570
HP:0002522	Areflexia of lower limbs	59345	GNB4	OMIM:615185
HP:0002522	Areflexia of lower limbs	16	AARS1	OMIM:613287
HP:0002522	Areflexia of lower limbs	7453	WARS1	OMIM:617721
HP:0002522	Areflexia of lower limbs	23230	VPS13A	ORPHA:2388
HP:0002522	Areflexia of lower limbs	9927	MFN2	ORPHA:99947
HP:0002522	Areflexia of lower limbs	1861	TOR1A	OMIM:128100
HP:0002522	Areflexia of lower limbs	4976	OPA1	ORPHA:1215
HP:0002522	Areflexia of lower limbs	5700	PSMC1	OMIM:620071
HP:0002522	Areflexia of lower limbs	10516	FBLN5	OMIM:619764
HP:0002522	Areflexia of lower limbs	3977	LIFR	OMIM:601559
HP:0002522	Areflexia of lower limbs	3977	LIFR	ORPHA:3206
HP:0002522	Areflexia of lower limbs	10613	ERLIN1	OMIM:615681
HP:0002522	Areflexia of lower limbs	79784	MYH14	OMIM:614369
HP:0002522	Areflexia of lower limbs	8291	DYSF	OMIM:254130
HP:0002522	Areflexia of lower limbs	8291	DYSF	ORPHA:45448
HP:0002522	Areflexia of lower limbs	5238	PGM3	ORPHA:443811
HP:0002522	Areflexia of lower limbs	10743	RAI1	ORPHA:477817
HP:0002522	Areflexia of lower limbs	4747	NEFL	ORPHA:99939
HP:0002522	Areflexia of lower limbs	2705	GJB1	ORPHA:1175
HP:0002527	Falls	5138	PDE2A	OMIM:619150
HP:0002527	Falls	4137	MAPT	OMIM:601104
HP:0002527	Falls	4137	MAPT	ORPHA:240071
HP:0002527	Falls	4137	MAPT	ORPHA:240094
HP:0002527	Falls	4137	MAPT	ORPHA:240112
HP:0002527	Falls	4137	MAPT	ORPHA:240085
HP:0002527	Falls	4728	NDUFS8	OMIM:618222
HP:0002527	Falls	1600	DAB1	ORPHA:363710
HP:0002527	Falls	91452	ACBD5	OMIM:618863
HP:0002527	Falls	1763	DNA2	OMIM:615156
HP:0002527	Falls	6711	SPTBN1	OMIM:619475
HP:0002527	Falls	5913	RAPSN	OMIM:616326
HP:0002527	Falls	64208	POPDC3	OMIM:618848
HP:0002527	Falls	4967	OGDH	OMIM:203740
HP:0002527	Falls	6418	SET	OMIM:618106
HP:0002527	Falls	4625	MYH7	OMIM:608358
HP:0002527	Falls	7080	NKX2-1	ORPHA:209905
HP:0002527	Falls	8139	GAN	ORPHA:643
HP:0002527	Falls	84188	FAR1	ORPHA:447753
HP:0002527	Falls	5832	ALDH18A1	ORPHA:447753
HP:0002527	Falls	5805	PTS	ORPHA:13
HP:0002527	Falls	10715	CERS1	OMIM:616230
HP:0002527	Falls	7273	TTN	ORPHA:178464
HP:0002527	Falls	6390	SDHB	OMIM:619224
HP:0002527	Falls	1759	DNM1	ORPHA:2382
HP:0002527	Falls	2562	GABRB3	ORPHA:2382
HP:0002527	Falls	5602	MAPK10	ORPHA:2382
HP:0002527	Falls	773	CACNA1A	ORPHA:2382
HP:0002527	Falls	6323	SCN1A	ORPHA:2382
HP:0002527	Falls	23316	CUX2	ORPHA:2382
HP:0002527	Falls	1106	CHD2	ORPHA:2382
HP:0002527	Falls	10159	ATP6AP2	OMIM:300423
HP:0002527	Falls	79152	FA2H	ORPHA:329308
HP:0002527	Falls	4747	NEFL	OMIM:617882
HP:0002527	Falls	9227	LRAT	OMIM:613341
HP:0002527	Falls	5575	PRKAR1B	ORPHA:412066
HP:0002527	Falls	84876	ORAI1	OMIM:615883
HP:0002527	Falls	23230	VPS13A	ORPHA:2388
HP:0002527	Falls	23400	ATP13A2	OMIM:617225
HP:0002527	Falls	2783	GNB2	OMIM:619503
HP:0002527	Falls	89874	SLC25A21	OMIM:618811
HP:0002527	Falls	2395	FXN	ORPHA:95
HP:0002527	Falls	1756	DMD	ORPHA:98895
HP:0002527	Falls	26278	SACS	OMIM:270550
HP:0002528	Granulovacuolar degeneration	4137	MAPT	OMIM:601104
HP:0012741	Unilateral cryptorchidism	64132	XYLT2	OMIM:605822
HP:0012741	Unilateral cryptorchidism	745	MYRF	OMIM:618280
HP:0012741	Unilateral cryptorchidism	4784	NFIX	ORPHA:447980
HP:0012741	Unilateral cryptorchidism	104	ADARB1	OMIM:618862
HP:0012741	Unilateral cryptorchidism	90121	TSR2	OMIM:300946
HP:0012741	Unilateral cryptorchidism	4781	NFIB	OMIM:618286
HP:0012741	Unilateral cryptorchidism	51111	KMT5B	OMIM:617788
HP:0012741	Unilateral cryptorchidism	3481	IGF2	OMIM:616489
HP:0012741	Unilateral cryptorchidism	83479	DDX59	OMIM:174300
HP:0012741	Unilateral cryptorchidism	6736	SRY	ORPHA:1772
HP:0012741	Unilateral cryptorchidism	84282	RNF135	ORPHA:137634
HP:0012741	Unilateral cryptorchidism	64093	SMOC1	OMIM:206920
HP:0012741	Unilateral cryptorchidism	25942	SIN3A	OMIM:613406
HP:0012741	Unilateral cryptorchidism	3640	INSL3	OMIM:219050
HP:0012742	Thin fingernail	51360	MBTPS2	ORPHA:2273
HP:0012743	Abdominal obesity	55599	RNPC3	OMIM:618160
HP:0012743	Abdominal obesity	641	BLM	ORPHA:125
HP:0012743	Abdominal obesity	8450	CUL4B	OMIM:300354
HP:0012743	Abdominal obesity	84196	USP48	ORPHA:96253
HP:0012743	Abdominal obesity	7157	TP53	ORPHA:96253
HP:0012743	Abdominal obesity	9101	USP8	ORPHA:96253
HP:0012743	Abdominal obesity	9101	USP8	OMIM:219090
HP:0012743	Abdominal obesity	64072	CDH23	ORPHA:96253
HP:0012743	Abdominal obesity	2908	NR3C1	ORPHA:96253
HP:0012743	Abdominal obesity	673	BRAF	ORPHA:96253
HP:0012743	Abdominal obesity	546	ATRX	ORPHA:96253
HP:0012743	Abdominal obesity	3991	LIPE	OMIM:615980
HP:0012743	Abdominal obesity	79576	NKAP	OMIM:301039
HP:0012743	Abdominal obesity	8882	ZPR1	OMIM:619321
HP:0012743	Abdominal obesity	79798	ARMC5	ORPHA:189427
HP:0012743	Abdominal obesity	79798	ARMC5	OMIM:615954
HP:0012743	Abdominal obesity	2778	GNAS	ORPHA:189427
HP:0012743	Abdominal obesity	6492	SIM1	ORPHA:398079
HP:0012743	Abdominal obesity	5566	PRKACA	ORPHA:189439
HP:0012743	Abdominal obesity	8622	PDE8B	ORPHA:189439
HP:0012743	Abdominal obesity	5573	PRKAR1A	ORPHA:189439
HP:0012743	Abdominal obesity	5573	PRKAR1A	ORPHA:1359
HP:0012743	Abdominal obesity	50940	PDE11A	ORPHA:189439
HP:0012743	Abdominal obesity	50940	PDE11A	ORPHA:1359
HP:0012743	Abdominal obesity	54551	MAGEL2	ORPHA:398069
HP:0012743	Abdominal obesity	54551	MAGEL2	OMIM:176270
HP:0012743	Abdominal obesity	9149	DYRK1B	OMIM:615812
HP:0012743	Abdominal obesity	9049	AIP	OMIM:219090
HP:0012743	Abdominal obesity	84100	ARL6	OMIM:209900
HP:0012743	Abdominal obesity	79140	CCDC28B	OMIM:209900
HP:0012743	Abdominal obesity	582	BBS1	OMIM:209900
HP:0012743	Abdominal obesity	7681	MKRN3	OMIM:176270
HP:0012743	Abdominal obesity	3653	IPW	OMIM:176270
HP:0012743	Abdominal obesity	791114	PWRN1	OMIM:176270
HP:0012743	Abdominal obesity	100033413	SNORD116-1	OMIM:176270
HP:0012743	Abdominal obesity	8924	HERC2	OMIM:176270
HP:0012743	Abdominal obesity	145624	PWAR1	OMIM:176270
HP:0012743	Abdominal obesity	23742	NPAP1	OMIM:176270
HP:0012743	Abdominal obesity	338433	SNORD115-1	OMIM:176270
HP:0012745	Short palpebral fissure	22827	PUF60	ORPHA:508498
HP:0012745	Short palpebral fissure	91949	COG7	OMIM:608779
HP:0012745	Short palpebral fissure	51574	LARP7	OMIM:615071
HP:0012745	Short palpebral fissure	51574	LARP7	ORPHA:319671
HP:0012745	Short palpebral fissure	8367	H4C5	OMIM:619950
HP:0012745	Short palpebral fissure	60529	ALX4	OMIM:613451
HP:0012745	Short palpebral fissure	220	ALDH1A3	OMIM:615113
HP:0012745	Short palpebral fissure	23394	ADNP	OMIM:615873
HP:0012745	Short palpebral fissure	55627	SMPD4	OMIM:618622
HP:0012745	Short palpebral fissure	145173	B3GLCT	ORPHA:709
HP:0012745	Short palpebral fissure	3703	STT3A	OMIM:619714
HP:0012745	Short palpebral fissure	5575	PRKAR1B	OMIM:619680
HP:0012745	Short palpebral fissure	7707	ZNF148	OMIM:617260
HP:0012745	Short palpebral fissure	6662	SOX9	OMIM:114290
HP:0012745	Short palpebral fissure	10982	MAPRE2	OMIM:616734
HP:0012745	Short palpebral fissure	29072	SETD2	OMIM:620157
HP:0012745	Short palpebral fissure	29072	SETD2	OMIM:620155
HP:0012745	Short palpebral fissure	55780	ERMARD	ORPHA:75857
HP:0012745	Short palpebral fissure	57231	SNX14	ORPHA:397709
HP:0012745	Short palpebral fissure	57231	SNX14	OMIM:616354
HP:0012745	Short palpebral fissure	4297	KMT2A	OMIM:605130
HP:0012745	Short palpebral fissure	4297	KMT2A	ORPHA:319182
HP:0012745	Short palpebral fissure	56992	KIF15	ORPHA:261323
HP:0012745	Short palpebral fissure	284058	KANSL1	ORPHA:363958
HP:0012745	Short palpebral fissure	284058	KANSL1	ORPHA:363965
HP:0012745	Short palpebral fissure	4998	ORC1	OMIM:224690
HP:0012745	Short palpebral fissure	3899	AFF3	OMIM:619297
HP:0012745	Short palpebral fissure	54496	PRMT7	OMIM:617157
HP:0012745	Short palpebral fissure	81788	NUAK2	OMIM:619452
HP:0012745	Short palpebral fissure	1108	CHD4	OMIM:617159
HP:0012745	Short palpebral fissure	7841	MOGS	OMIM:606056
HP:0012745	Short palpebral fissure	7841	MOGS	ORPHA:79330
HP:0012745	Short palpebral fissure	672	BRCA1	ORPHA:84
HP:0012745	Short palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0012745	Short palpebral fissure	7516	XRCC2	ORPHA:84
HP:0012745	Short palpebral fissure	29089	UBE2T	ORPHA:84
HP:0012745	Short palpebral fissure	675	BRCA2	ORPHA:84
HP:0012745	Short palpebral fissure	55120	FANCL	ORPHA:84
HP:0012745	Short palpebral fissure	2177	FANCD2	ORPHA:84
HP:0012745	Short palpebral fissure	2175	FANCA	ORPHA:84
HP:0012745	Short palpebral fissure	2187	FANCB	ORPHA:84
HP:0012745	Short palpebral fissure	2176	FANCC	ORPHA:84
HP:0012745	Short palpebral fissure	2178	FANCE	ORPHA:84
HP:0012745	Short palpebral fissure	2188	FANCF	ORPHA:84
HP:0012745	Short palpebral fissure	2189	FANCG	ORPHA:84
HP:0012745	Short palpebral fissure	5888	RAD51	ORPHA:84
HP:0012745	Short palpebral fissure	5889	RAD51C	ORPHA:84
HP:0012745	Short palpebral fissure	55159	RFWD3	ORPHA:84
HP:0012745	Short palpebral fissure	83990	BRIP1	ORPHA:84
HP:0012745	Short palpebral fissure	57697	FANCM	ORPHA:84
HP:0012745	Short palpebral fissure	79728	PALB2	ORPHA:84
HP:0012745	Short palpebral fissure	84464	SLX4	ORPHA:84
HP:0012745	Short palpebral fissure	84464	SLX4	OMIM:613951
HP:0012745	Short palpebral fissure	2072	ERCC4	ORPHA:84
HP:0012745	Short palpebral fissure	55215	FANCI	ORPHA:84
HP:0012745	Short palpebral fissure	3759	KCNJ2	OMIM:170390
HP:0012745	Short palpebral fissure	3759	KCNJ2	ORPHA:37553
HP:0012745	Short palpebral fissure	5422	POLA1	OMIM:301030
HP:0012745	Short palpebral fissure	6899	TBX1	OMIM:188400
HP:0012745	Short palpebral fissure	64919	BCL11B	OMIM:618092
HP:0012745	Short palpebral fissure	64919	BCL11B	OMIM:617237
HP:0012745	Short palpebral fissure	3977	LIFR	OMIM:601559
HP:0012745	Short palpebral fissure	26053	AUTS2	ORPHA:352490
HP:0012745	Short palpebral fissure	26053	AUTS2	OMIM:615834
HP:0012745	Short palpebral fissure	84314	TMEM107	OMIM:617563
HP:0012745	Short palpebral fissure	26040	SETBP1	OMIM:616078
HP:0012745	Short palpebral fissure	3188	HNRNPH2	OMIM:300986
HP:0012745	Short palpebral fissure	4613	MYCN	OMIM:164280
HP:0012745	Short palpebral fissure	4613	MYCN	ORPHA:391641
HP:0012745	Short palpebral fissure	57167	SALL4	ORPHA:959
HP:0012745	Short palpebral fissure	57167	SALL4	ORPHA:233
HP:0012745	Short palpebral fissure	79633	FAT4	OMIM:615546
HP:0012745	Short palpebral fissure	54551	MAGEL2	OMIM:615547
HP:0012745	Short palpebral fissure	89910	UBE3B	ORPHA:2707
HP:0012745	Short palpebral fissure	25942	SIN3A	OMIM:613406
HP:0012745	Short palpebral fissure	8642	DCHS1	OMIM:601390
HP:0012745	Short palpebral fissure	2697	GJA1	OMIM:164200
HP:0012745	Short palpebral fissure	2697	GJA1	OMIM:257850
HP:0012745	Short palpebral fissure	29980	DONSON	OMIM:251230
HP:0012745	Short palpebral fissure	8241	RBM10	OMIM:311900
HP:0012745	Short palpebral fissure	8241	RBM10	ORPHA:2886
HP:0012745	Short palpebral fissure	9935	MAFB	ORPHA:233
HP:0012745	Short palpebral fissure	1123	CHN1	ORPHA:233
HP:0012745	Short palpebral fissure	4593	MUSK	OMIM:208150
HP:0012745	Short palpebral fissure	29957	SLC25A24	OMIM:612289
HP:0012745	Short palpebral fissure	25885	POLR1A	ORPHA:1200
HP:0012745	Short palpebral fissure	10907	TXNL4A	ORPHA:1200
HP:0012745	Short palpebral fissure	10907	TXNL4A	OMIM:608572
HP:0012745	Short palpebral fissure	4659	PPP1R12A	OMIM:618820
HP:0012745	Short palpebral fissure	8239	USP9X	ORPHA:480880
HP:0012745	Short palpebral fissure	8239	USP9X	OMIM:300968
HP:0012745	Short palpebral fissure	81031	SLC2A10	ORPHA:3342
HP:0012745	Short palpebral fissure	81031	SLC2A10	OMIM:208050
HP:0012745	Short palpebral fissure	23137	SMC5	OMIM:620185
HP:0012745	Short palpebral fissure	10236	HNRNPR	OMIM:620073
HP:0012745	Short palpebral fissure	6595	SMARCA2	ORPHA:3051
HP:0012745	Short palpebral fissure	203068	TUBB	OMIM:156610
HP:0012745	Short palpebral fissure	8567	MADD	OMIM:619004
HP:0012745	Short palpebral fissure	8567	MADD	OMIM:619005
HP:0012745	Short palpebral fissure	7358	UGDH	OMIM:618792
HP:0012745	Short palpebral fissure	9702	CEP57	OMIM:614114
HP:0012745	Short palpebral fissure	3845	KRAS	ORPHA:3339
HP:0012745	Short palpebral fissure	10472	ZBTB18	OMIM:612337
HP:0012745	Short palpebral fissure	64093	SMOC1	OMIM:206920
HP:0012745	Short palpebral fissure	388015	RTL1	ORPHA:96334
HP:0012745	Short palpebral fissure	8788	DLK1	ORPHA:96334
HP:0012745	Short palpebral fissure	55384	MEG3	ORPHA:96334
HP:0012745	Short palpebral fissure	51322	WAC	ORPHA:284169
HP:0012745	Short palpebral fissure	8218	CLTCL1	ORPHA:453510
HP:0012745	Short palpebral fissure	2186	BPTF	OMIM:617755
HP:0012745	Short palpebral fissure	4000	LMNA	ORPHA:1662
HP:0012745	Short palpebral fissure	10269	ZMPSTE24	ORPHA:1662
HP:0012745	Short palpebral fissure	10269	ZMPSTE24	OMIM:275210
HP:0012745	Short palpebral fissure	23219	FBXO28	OMIM:619777
HP:0012745	Short palpebral fissure	23522	KAT6B	ORPHA:3047
HP:0012745	Short palpebral fissure	1387	CREBBP	OMIM:618332
HP:0012745	Short palpebral fissure	6913	TBX15	OMIM:260660
HP:0012745	Short palpebral fissure	55553	SOX6	OMIM:618971
HP:0012745	Short palpebral fissure	2033	EP300	OMIM:618333
HP:0012745	Short palpebral fissure	8621	CDK13	OMIM:617360
HP:0012745	Short palpebral fissure	23404	EXOSC2	OMIM:617763
HP:0012745	Short palpebral fissure	79228	THOC6	OMIM:613680
HP:0012745	Short palpebral fissure	2702	GJA5	OMIM:612474
HP:0012745	Short palpebral fissure	2703	GJA8	OMIM:612474
HP:0012745	Short palpebral fissure	1642	DDB1	OMIM:619426
HP:0012745	Short palpebral fissure	6664	SOX11	OMIM:615866
HP:0012745	Short palpebral fissure	63895	PIEZO2	ORPHA:2461
HP:0012745	Short palpebral fissure	3516	RBPJ	OMIM:614814
HP:0012745	Short palpebral fissure	246329	STAC3	OMIM:255995
HP:0012745	Short palpebral fissure	3762	KCNJ5	ORPHA:37553
HP:0012745	Short palpebral fissure	4089	SMAD4	ORPHA:2588
HP:0012745	Short palpebral fissure	10075	HUWE1	OMIM:309590
HP:0012746	Thin toenail	4487	MSX1	ORPHA:2228
HP:0012747	Abnormal brainstem MRI signal intensity	23474	ETHE1	ORPHA:51188
HP:0012747	Abnormal brainstem MRI signal intensity	9131	AIFM1	ORPHA:83629
HP:0012747	Abnormal brainstem MRI signal intensity	5903	RANBP2	ORPHA:88619
HP:0012747	Abnormal brainstem MRI signal intensity	91574	MTRFR	ORPHA:254930
HP:0012747	Abnormal brainstem MRI signal intensity	80704	SLC19A3	ORPHA:263410
HP:0012747	Abnormal brainstem MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012747	Abnormal brainstem MRI signal intensity	3908	LAMA2	ORPHA:258
HP:0012747	Abnormal brainstem MRI signal intensity	54539	NDUFB11	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	25915	NDUFAF3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	51103	NDUFAF1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	91942	NDUFAF2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	51300	TIMMDC1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4716	NDUFB10	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4723	NDUFV1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	55572	FOXRED1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	284184	NDUFAF8	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	55863	TMEM126B	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4535	MT-ND1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4537	MT-ND3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4729	NDUFV2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4694	NDUFA1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4720	NDUFS2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4724	NDUFS4	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4726	NDUFS6	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4728	NDUFS8	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4722	NDUFS3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	79133	NDUFAF5	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	126328	NDUFA11	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4709	NDUFB3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	80224	NUBPL	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	29078	NDUFAF4	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	374291	NDUFS7	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4700	NDUFA6	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4536	MT-ND2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4719	NDUFS1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4715	NDUFB9	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	11235	PDCD10	ORPHA:221061
HP:0012747	Abnormal brainstem MRI signal intensity	83605	CCM2	ORPHA:221061
HP:0012747	Abnormal brainstem MRI signal intensity	889	KRIT1	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	54539	NDUFB11	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	25915	NDUFAF3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	51103	NDUFAF1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	91942	NDUFAF2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	51300	TIMMDC1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4716	NDUFB10	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4723	NDUFV1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	55572	FOXRED1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	284184	NDUFAF8	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	55863	TMEM126B	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4535	MT-ND1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4537	MT-ND3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4729	NDUFV2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4694	NDUFA1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4720	NDUFS2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4724	NDUFS4	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4726	NDUFS6	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4728	NDUFS8	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4722	NDUFS3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	79133	NDUFAF5	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	126328	NDUFA11	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4709	NDUFB3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	80224	NUBPL	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	29078	NDUFAF4	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	374291	NDUFS7	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4700	NDUFA6	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4536	MT-ND2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4719	NDUFS1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4715	NDUFB9	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	11235	PDCD10	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	83605	CCM2	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	889	KRIT1	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	11235	PDCD10	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	83605	CCM2	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	889	KRIT1	ORPHA:221061
HP:0012740	Papilloma	3265	HRAS	ORPHA:3071
HP:0012740	Papilloma	10483	SEC23B	ORPHA:201
HP:0012740	Papilloma	10483	SEC23B	OMIM:616858
HP:0012740	Papilloma	5728	PTEN	ORPHA:201
HP:0012740	Papilloma	6390	SDHB	ORPHA:201
HP:0012740	Papilloma	6392	SDHD	ORPHA:201
HP:0012740	Papilloma	6391	SDHC	ORPHA:201
HP:0012740	Papilloma	207	AKT1	ORPHA:201
HP:0012740	Papilloma	205717	USF3	ORPHA:201
HP:0012740	Papilloma	5290	PIK3CA	ORPHA:201
HP:0012740	Papilloma	100144748	KLLN	ORPHA:201
HP:0012740	Papilloma	7852	CXCR4	ORPHA:51636
HP:0012740	Papilloma	2324	FLT4	OMIM:153100
HP:0012740	Papilloma	64840	PORCN	ORPHA:2092
HP:0012740	Papilloma	4437	MSH3	ORPHA:480536
HP:0012740	Papilloma	2068	ERCC2	ORPHA:910
HP:0012740	Papilloma	7507	XPA	ORPHA:910
HP:0012740	Papilloma	2071	ERCC3	ORPHA:910
HP:0012740	Papilloma	7508	XPC	ORPHA:910
HP:0012740	Papilloma	1643	DDB2	ORPHA:910
HP:0012740	Papilloma	2072	ERCC4	ORPHA:910
HP:0012740	Papilloma	2073	ERCC5	ORPHA:910
HP:0012740	Papilloma	399	RHOH	OMIM:618307
HP:0012740	Papilloma	920	CD4	OMIM:619238
HP:0012740	Papilloma	7174	TPP2	OMIM:619220
HP:0012740	Papilloma	7157	TP53	OMIM:260500
HP:0012740	Papilloma	7157	TP53	ORPHA:2807
HP:0012740	Papilloma	4893	NRAS	OMIM:249400
HP:0012740	Papilloma	1893	ECM1	ORPHA:530
HP:0012740	Papilloma	8517	IKBKG	ORPHA:464
HP:0012740	Papilloma	64421	DCLRE1C	ORPHA:275
HP:0012740	Papilloma	11322	TMC6	OMIM:226400
HP:0012740	Papilloma	11322	TMC6	ORPHA:302
HP:0012740	Papilloma	10519	CIB1	OMIM:618267
HP:0012740	Papilloma	10519	CIB1	ORPHA:302
HP:0012740	Papilloma	146206	CARMIL2	OMIM:618131
HP:0012740	Papilloma	8547	FCN3	OMIM:613860
HP:0012740	Papilloma	2624	GATA2	OMIM:614038
HP:0012740	Papilloma	10625	IVNS1ABP	OMIM:618969
HP:0012740	Papilloma	3574	IL7	OMIM:618309
HP:0012740	Papilloma	3574	IL7	ORPHA:302
HP:0012740	Papilloma	488	ATP2A2	ORPHA:79151
HP:0012740	Papilloma	54440	SASH3	OMIM:301082
HP:0012740	Papilloma	6789	STK4	OMIM:614868
HP:0012740	Papilloma	147138	TMC8	ORPHA:302
HP:0012740	Papilloma	6929	TCF3	ORPHA:33110
HP:0012740	Papilloma	973	CD79A	ORPHA:33110
HP:0012740	Papilloma	974	CD79B	ORPHA:33110
HP:0012740	Papilloma	3543	IGLL1	ORPHA:33110
HP:0012740	Papilloma	3507	IGHM	ORPHA:33110
HP:0012740	Papilloma	29760	BLNK	ORPHA:33110
HP:0012740	Papilloma	5295	PIK3R1	ORPHA:33110
HP:0012740	Papilloma	56262	LRRC8A	ORPHA:33110
HP:0012740	Papilloma	81704	DOCK8	ORPHA:217390
HP:0002530	Axial dystonia	5521	PPP2R2B	OMIM:604326
HP:0002530	Axial dystonia	25792	CIZ1	ORPHA:420492
HP:0002530	Axial dystonia	2521	FUS	ORPHA:300605
HP:0002530	Axial dystonia	80208	SPG11	ORPHA:300605
HP:0002530	Axial dystonia	10280	SIGMAR1	ORPHA:300605
HP:0002530	Axial dystonia	10558	SPTLC1	ORPHA:300605
HP:0002530	Axial dystonia	57679	ALS2	ORPHA:300605
HP:0002530	Axial dystonia	4137	MAPT	OMIM:601104
HP:0002530	Axial dystonia	4137	MAPT	ORPHA:240071
HP:0002530	Axial dystonia	84842	HPDL	OMIM:619026
HP:0002530	Axial dystonia	5610	EIF2AK2	OMIM:619687
HP:0002530	Axial dystonia	51102	MECR	ORPHA:508093
HP:0002530	Axial dystonia	4722	NDUFS3	OMIM:618230
HP:0002530	Axial dystonia	2774	GNAL	ORPHA:329466
HP:0002530	Axial dystonia	8398	PLA2G6	OMIM:612953
HP:0002530	Axial dystonia	27235	COQ2	ORPHA:227510
HP:0002530	Axial dystonia	27235	COQ2	ORPHA:98933
HP:0002530	Axial dystonia	1293	COL6A3	ORPHA:464440
HP:0001311	Abnormal nervous system electrophysiology	2074	ERCC6	OMIM:133540
HP:0001311	Abnormal nervous system electrophysiology	79784	MYH14	ORPHA:397744
HP:0001311	Abnormal nervous system electrophysiology	9131	AIFM1	ORPHA:101078
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309256
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309271
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309263
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	OMIM:250100
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	ORPHA:309256
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	OMIM:249900
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	ORPHA:309271
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	ORPHA:309263
HP:0001311	Abnormal nervous system electrophysiology	7415	VCP	ORPHA:435387
HP:0001311	Abnormal nervous system electrophysiology	7415	VCP	ORPHA:329478
HP:0001311	Abnormal nervous system electrophysiology	5190	PEX6	OMIM:614863
HP:0001311	Abnormal nervous system electrophysiology	9782	MATR3	OMIM:606070
HP:0001311	Abnormal nervous system electrophysiology	9782	MATR3	ORPHA:600
HP:0001311	Abnormal nervous system electrophysiology	4747	NEFL	ORPHA:99939
HP:0001311	Abnormal nervous system electrophysiology	4747	NEFL	ORPHA:101085
HP:0001311	Abnormal nervous system electrophysiology	7167	TPI1	ORPHA:868
HP:0001311	Abnormal nervous system electrophysiology	10516	FBLN5	OMIM:608895
HP:0001311	Abnormal nervous system electrophysiology	10743	RAI1	ORPHA:477817
HP:0001311	Abnormal nervous system electrophysiology	5354	PLP1	ORPHA:280234
HP:0001311	Abnormal nervous system electrophysiology	10397	NDRG1	OMIM:601455
HP:0001311	Abnormal nervous system electrophysiology	6305	SBF1	OMIM:615284
HP:0001311	Abnormal nervous system electrophysiology	23114	NFASC	OMIM:618356
HP:0001311	Abnormal nervous system electrophysiology	25814	ATXN10	OMIM:603516
HP:0001311	Abnormal nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0001311	Abnormal nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0001311	Abnormal nervous system electrophysiology	5165	PDK3	ORPHA:352675
HP:0001311	Abnormal nervous system electrophysiology	9896	FIG4	OMIM:612577
HP:0001311	Abnormal nervous system electrophysiology	9896	FIG4	OMIM:611228
HP:0001311	Abnormal nervous system electrophysiology	1130	LYST	OMIM:214500
HP:0001311	Abnormal nervous system electrophysiology	1130	LYST	ORPHA:167
HP:0001311	Abnormal nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0001311	Abnormal nervous system electrophysiology	3508	IGHMBP2	OMIM:604320
HP:0001311	Abnormal nervous system electrophysiology	540	ATP7B	OMIM:277900
HP:0001311	Abnormal nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0001311	Abnormal nervous system electrophysiology	1161	ERCC8	OMIM:216400
HP:0001311	Abnormal nervous system electrophysiology	9516	LITAF	OMIM:601098
HP:0001311	Abnormal nervous system electrophysiology	10166	SLC25A15	OMIM:238970
HP:0001311	Abnormal nervous system electrophysiology	87178	PNPT1	ORPHA:319514
HP:0001311	Abnormal nervous system electrophysiology	87178	PNPT1	OMIM:614932
HP:0001311	Abnormal nervous system electrophysiology	219285	SAMD9L	OMIM:159550
HP:0001311	Abnormal nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0001311	Abnormal nervous system electrophysiology	3295	HSD17B4	OMIM:261515
HP:0001311	Abnormal nervous system electrophysiology	9639	ARHGEF10	OMIM:608236
HP:0001311	Abnormal nervous system electrophysiology	2200	FBN1	ORPHA:969
HP:0001311	Abnormal nervous system electrophysiology	4054	LTBP3	ORPHA:969
HP:0001311	Abnormal nervous system electrophysiology	54463	RETREG1	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	65125	WNK1	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	547	KIF1A	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	8398	PLA2G6	OMIM:256600
HP:0001311	Abnormal nervous system electrophysiology	26090	ABHD12	OMIM:612674
HP:0001311	Abnormal nervous system electrophysiology	2071	ERCC3	OMIM:610651
HP:0001311	Abnormal nervous system electrophysiology	3908	LAMA2	OMIM:618138
HP:0001311	Abnormal nervous system electrophysiology	5376	PMP22	ORPHA:90658
HP:0001311	Abnormal nervous system electrophysiology	8449	DHX16	OMIM:618733
HP:0001311	Abnormal nervous system electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0001311	Abnormal nervous system electrophysiology	9990	SLC12A6	OMIM:218000
HP:0001311	Abnormal nervous system electrophysiology	4359	MPZ	ORPHA:101082
HP:0001311	Abnormal nervous system electrophysiology	1200	TPP1	OMIM:204500
HP:0001311	Abnormal nervous system electrophysiology	54982	CLN6	OMIM:601780
HP:0001311	Abnormal nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0001311	Abnormal nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0001311	Abnormal nervous system electrophysiology	57465	TBC1D24	ORPHA:352596
HP:0001311	Abnormal nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0001311	Abnormal nervous system electrophysiology	27286	SRPX2	ORPHA:1945
HP:0001311	Abnormal nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0001311	Abnormal nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0001311	Abnormal nervous system electrophysiology	2218	FKTN	ORPHA:272
HP:0001311	Abnormal nervous system electrophysiology	2218	FKTN	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	23446	SLC44A1	OMIM:618868
HP:0001311	Abnormal nervous system electrophysiology	3265	HRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	3845	KRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	3845	KRAS	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	4893	NRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	60684	TRAPPC11	OMIM:615356
HP:0001311	Abnormal nervous system electrophysiology	55624	POMGNT1	OMIM:253280
HP:0001311	Abnormal nervous system electrophysiology	55624	POMGNT1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	10667	FARS2	OMIM:614946
HP:0001311	Abnormal nervous system electrophysiology	4047	LSS	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	197	AHSG	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	3694	ITGB6	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	51	ACOX1	ORPHA:2971
HP:0001311	Abnormal nervous system electrophysiology	23126	POGZ	ORPHA:468678
HP:0001311	Abnormal nervous system electrophysiology	54209	TREM2	OMIM:618193
HP:0001311	Abnormal nervous system electrophysiology	387119	CEP85L	OMIM:618873
HP:0001311	Abnormal nervous system electrophysiology	387787	LIPT2	OMIM:617668
HP:0001311	Abnormal nervous system electrophysiology	27245	AHDC1	ORPHA:412069
HP:0001311	Abnormal nervous system electrophysiology	166378	AFG2A	OMIM:616577
HP:0001311	Abnormal nervous system electrophysiology	25914	RTTN	OMIM:614833
HP:0001311	Abnormal nervous system electrophysiology	2314	FLII	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	10522	DEAF1	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	10522	DEAF1	OMIM:617171
HP:0001311	Abnormal nervous system electrophysiology	5818	NECTIN1	ORPHA:3253
HP:0001311	Abnormal nervous system electrophysiology	284403	WDR62	OMIM:604317
HP:0001311	Abnormal nervous system electrophysiology	1185	CLCN6	OMIM:619173
HP:0001311	Abnormal nervous system electrophysiology	6023	RMRP	ORPHA:175
HP:0001311	Abnormal nervous system electrophysiology	5105	PCK1	OMIM:261680
HP:0001311	Abnormal nervous system electrophysiology	6844	VAMP2	OMIM:618760
HP:0001311	Abnormal nervous system electrophysiology	10939	AFG3L2	ORPHA:313772
HP:0001311	Abnormal nervous system electrophysiology	9839	ZEB2	ORPHA:261552
HP:0001311	Abnormal nervous system electrophysiology	9839	ZEB2	ORPHA:261537
HP:0001311	Abnormal nervous system electrophysiology	23461	ABCA5	ORPHA:2026
HP:0001311	Abnormal nervous system electrophysiology	2783	GNB2	OMIM:619503
HP:0001311	Abnormal nervous system electrophysiology	26057	ANKRD17	OMIM:619504
HP:0001311	Abnormal nervous system electrophysiology	53834	FGFRL1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	1487	CTBP1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	3954	LETM1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	7468	NSD2	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	383	ARG1	ORPHA:90
HP:0001311	Abnormal nervous system electrophysiology	7915	ALDH5A1	OMIM:271980
HP:0001311	Abnormal nervous system electrophysiology	9255	AIMP1	OMIM:260600
HP:0001311	Abnormal nervous system electrophysiology	79753	SNIP1	OMIM:614501
HP:0001311	Abnormal nervous system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0001311	Abnormal nervous system electrophysiology	5590	PRKCZ	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	23013	SPEN	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	8510	MMP23B	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	7798	LUZP1	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	6497	SKI	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	10630	PDPN	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	3339	HSPG2	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	10277	UBE4B	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	8514	KCNAB2	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	473	RERE	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	63976	PRDM16	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	54897	CASZ1	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	OMIM:105830
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	OMIM:209850
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	ORPHA:411515
HP:0001311	Abnormal nervous system electrophysiology	148789	B3GALNT2	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	29925	GMPPB	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	79147	FKRP	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	9215	LARGE1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	29954	POMT2	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	10585	POMT1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	8905	AP1S2	ORPHA:85329
HP:0001311	Abnormal nervous system electrophysiology	4094	MAF	ORPHA:1272
HP:0001311	Abnormal nervous system electrophysiology	8733	GPAA1	ORPHA:529665
HP:0001311	Abnormal nervous system electrophysiology	8733	GPAA1	OMIM:617810
HP:0001311	Abnormal nervous system electrophysiology	27086	FOXP1	ORPHA:391372
HP:0001311	Abnormal nervous system electrophysiology	2232	FDXR	ORPHA:543470
HP:0001311	Abnormal nervous system electrophysiology	200424	TET3	OMIM:618798
HP:0001311	Abnormal nervous system electrophysiology	29110	TBK1	OMIM:617900
HP:0001311	Abnormal nervous system electrophysiology	29110	TBK1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	256471	MFSD8	OMIM:610951
HP:0001311	Abnormal nervous system electrophysiology	57192	MCOLN1	ORPHA:578
HP:0001311	Abnormal nervous system electrophysiology	23065	EMC1	ORPHA:480898
HP:0001311	Abnormal nervous system electrophysiology	8813	DPM1	OMIM:608799
HP:0001311	Abnormal nervous system electrophysiology	55670	PEX26	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	55670	PEX26	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5824	PEX19	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5824	PEX19	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5828	PEX2	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5828	PEX2	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8504	PEX3	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	8504	PEX3	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	9409	PEX16	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	9409	PEX16	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	OMIM:614920
HP:0001311	Abnormal nervous system electrophysiology	5830	PEX5	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5830	PEX5	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5189	PEX1	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5189	PEX1	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5193	PEX12	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5193	PEX12	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5194	PEX13	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5194	PEX13	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5195	PEX14	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5195	PEX14	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5192	PEX10	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5192	PEX10	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	23007	PLCH1	OMIM:619895
HP:0001311	Abnormal nervous system electrophysiology	340024	SLC6A19	ORPHA:2116
HP:0001311	Abnormal nervous system electrophysiology	57393	CLTRN	ORPHA:2116
HP:0001311	Abnormal nervous system electrophysiology	84168	ANTXR1	OMIM:230740
HP:0001311	Abnormal nervous system electrophysiology	54413	NLGN3	OMIM:300425
HP:0001311	Abnormal nervous system electrophysiology	57505	AARS2	OMIM:614096
HP:0001311	Abnormal nervous system electrophysiology	3658	IREB2	OMIM:618451
HP:0001311	Abnormal nervous system electrophysiology	58497	PRUNE1	ORPHA:544469
HP:0001311	Abnormal nervous system electrophysiology	57724	EPG5	ORPHA:1493
HP:0001311	Abnormal nervous system electrophysiology	5813	PURA	ORPHA:314655
HP:0001311	Abnormal nervous system electrophysiology	2068	ERCC2	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7507	XPA	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7508	XPC	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	1643	DDB2	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	2072	ERCC4	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	2073	ERCC5	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7187	TRAF3	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	81622	UNC93B1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	148022	TICAM1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	7098	TLR3	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	7098	TLR3	OMIM:613002
HP:0001311	Abnormal nervous system electrophysiology	435	ASL	ORPHA:23
HP:0001311	Abnormal nervous system electrophysiology	4558	MT-TF	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4572	MT-TQ	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4512	MT-CO1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4513	MT-CO2	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4514	MT-CO3	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4578	MT-TW	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4540	MT-ND5	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4541	MT-ND6	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4535	MT-ND1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4538	MT-ND4	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4567	MT-TL1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4574	MT-TS1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4575	MT-TS2	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4564	MT-TH	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	10785	WDR4	OMIM:618346
HP:0001311	Abnormal nervous system electrophysiology	10785	WDR4	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	2290	FOXG1	OMIM:613454
HP:0001311	Abnormal nervous system electrophysiology	29123	ANKRD11	ORPHA:2332
HP:0001311	Abnormal nervous system electrophysiology	22854	NTNG1	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	OMIM:180849
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0001311	Abnormal nervous system electrophysiology	23395	LARS2	OMIM:617021
HP:0001311	Abnormal nervous system electrophysiology	57520	HECW2	OMIM:617268
HP:0001311	Abnormal nervous system electrophysiology	8085	KMT2D	ORPHA:2322
HP:0001311	Abnormal nervous system electrophysiology	7403	KDM6A	ORPHA:2322
HP:0001311	Abnormal nervous system electrophysiology	2033	EP300	ORPHA:353284
HP:0001311	Abnormal nervous system electrophysiology	2033	EP300	OMIM:180849
HP:0001311	Abnormal nervous system electrophysiology	5080	PAX6	ORPHA:137902
HP:0001311	Abnormal nervous system electrophysiology	1312	COMT	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	23780	APOL2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	267012	DAOA	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	3356	HTR2A	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	6854	SYN2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	1814	DRD3	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	4524	MTHFR	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	27184	DISC2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	65078	RTN4R	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	80832	APOL4	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	1116	CHI3L1	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	4952	OCRL	ORPHA:534
HP:0001311	Abnormal nervous system electrophysiology	2067	ERCC1	OMIM:610758
HP:0001311	Abnormal nervous system electrophysiology	4948	OCA2	ORPHA:98794
HP:0001311	Abnormal nervous system electrophysiology	1725	DHPS	OMIM:618480
HP:0001311	Abnormal nervous system electrophysiology	3192	HNRNPU	OMIM:617391
HP:0001311	Abnormal nervous system electrophysiology	4704	NDUFA9	OMIM:618247
HP:0001311	Abnormal nervous system electrophysiology	23511	NUP188	OMIM:618804
HP:0001311	Abnormal nervous system electrophysiology	201163	FLCN	OMIM:610883
HP:0001311	Abnormal nervous system electrophysiology	5604	MAP2K1	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	5605	MAP2K2	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	673	BRAF	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	23258	DENND5A	OMIM:617281
HP:0001311	Abnormal nervous system electrophysiology	114548	NLRP3	ORPHA:1451
HP:0001311	Abnormal nervous system electrophysiology	6611	SMS	ORPHA:3063
HP:0001311	Abnormal nervous system electrophysiology	8943	AP3D1	OMIM:617050
HP:0001311	Abnormal nervous system electrophysiology	51241	COX16	OMIM:619355
HP:0001311	Abnormal nervous system electrophysiology	57003	CCDC47	OMIM:618268
HP:0001311	Abnormal nervous system electrophysiology	285175	UNC80	ORPHA:371364
HP:0001311	Abnormal nervous system electrophysiology	526	ATP6V1B2	ORPHA:79500
HP:0001311	Abnormal nervous system electrophysiology	7343	UBTF	ORPHA:500180
HP:0001311	Abnormal nervous system electrophysiology	151	ADRA2B	ORPHA:86814
HP:0001311	Abnormal nervous system electrophysiology	1501	CTNND2	ORPHA:86814
HP:0001311	Abnormal nervous system electrophysiology	8567	MADD	OMIM:619004
HP:0001311	Abnormal nervous system electrophysiology	8567	MADD	OMIM:619005
HP:0001311	Abnormal nervous system electrophysiology	10319	LAMC3	OMIM:614115
HP:0001311	Abnormal nervous system electrophysiology	8450	CUL4B	ORPHA:85293
HP:0001311	Abnormal nervous system electrophysiology	5625	PRODH	OMIM:239500
HP:0001311	Abnormal nervous system electrophysiology	3516	RBPJ	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	4851	NOTCH1	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	57514	ARHGAP31	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	57572	DOCK6	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	285203	EOGT	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	54567	DLL4	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	617	BCS1L	OMIM:124000
HP:0001311	Abnormal nervous system electrophysiology	84628	NTNG2	OMIM:618718
HP:0001311	Abnormal nervous system electrophysiology	3756	KCNH1	ORPHA:420561
HP:0001311	Abnormal nervous system electrophysiology	3090	HIC1	ORPHA:531
HP:0001311	Abnormal nervous system electrophysiology	7531	YWHAE	ORPHA:531
HP:0001311	Abnormal nervous system electrophysiology	57502	NLGN4X	OMIM:300495
HP:0001311	Abnormal nervous system electrophysiology	84295	PHF6	OMIM:301900
HP:0001311	Abnormal nervous system electrophysiology	54802	TRIT1	OMIM:617873
HP:0001311	Abnormal nervous system electrophysiology	5538	PPT1	OMIM:256730
HP:0001311	Abnormal nervous system electrophysiology	1968	EIF2S3	ORPHA:85282
HP:0001311	Abnormal nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0001311	Abnormal nervous system electrophysiology	4693	NDP	ORPHA:649
HP:0001311	Abnormal nervous system electrophysiology	7305	TYROBP	OMIM:221770
HP:0001311	Abnormal nervous system electrophysiology	51002	TPRKB	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	84942	WDR73	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	55644	OSGEP	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	57122	NUP107	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	55746	NUP133	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	112858	TP53RK	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	8270	LAGE3	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	57194	ATP10A	ORPHA:411515
HP:0001311	Abnormal nervous system electrophysiology	5138	PDE2A	ORPHA:31709
HP:0001311	Abnormal nervous system electrophysiology	112476	PRRT2	ORPHA:31709
HP:0001311	Abnormal nervous system electrophysiology	112476	PRRT2	ORPHA:306
HP:0001311	Abnormal nervous system electrophysiology	112476	PRRT2	OMIM:602066
HP:0001311	Abnormal nervous system electrophysiology	29968	PSAT1	ORPHA:284417
HP:0001311	Abnormal nervous system electrophysiology	84720	PIGO	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	93210	PGAP3	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	284098	PIGW	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	27315	PGAP2	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	55650	PIGV	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	9487	PIGL	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	10297	APC2	OMIM:617169
HP:0001311	Abnormal nervous system electrophysiology	3747	KCNC2	OMIM:619913
HP:0001311	Abnormal nervous system electrophysiology	4649	MYO9A	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	1305	COL13A1	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	1103	CHAT	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6576	SLC25A1	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6843	VAMP1	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	375790	AGRN	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	127833	SYT2	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6572	SLC18A3	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6616	SNAP25	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	2563	GABRD	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	1181	CLCN2	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	3786	KCNQ3	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	22858	CILK1	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	785	CACNB4	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	785	CACNB4	OMIM:607682
HP:0001311	Abnormal nervous system electrophysiology	1476	CSTB	OMIM:254800
HP:0001311	Abnormal nervous system electrophysiology	1476	CSTB	ORPHA:308
HP:0001311	Abnormal nervous system electrophysiology	9289	ADGRG1	ORPHA:98889
HP:0001311	Abnormal nervous system electrophysiology	5297	PI4KA	ORPHA:98889
HP:0001311	Abnormal nervous system electrophysiology	144165	PRICKLE1	ORPHA:308
HP:0001311	Abnormal nervous system electrophysiology	950	SCARB2	ORPHA:308
HP:0001311	Abnormal nervous system electrophysiology	3155	HMGCL	ORPHA:20
HP:0001311	Abnormal nervous system electrophysiology	8243	SMC1A	OMIM:301044
HP:0001311	Abnormal nervous system electrophysiology	199857	ALG14	OMIM:619036
HP:0001311	Abnormal nervous system electrophysiology	9853	RUSC2	OMIM:617773
HP:0001311	Abnormal nervous system electrophysiology	343450	KCNT2	OMIM:617771
HP:0001311	Abnormal nervous system electrophysiology	10564	ARFGEF2	OMIM:608097
HP:0001311	Abnormal nervous system electrophysiology	7355	SLC35A2	ORPHA:356961
HP:0001311	Abnormal nervous system electrophysiology	7355	SLC35A2	OMIM:300896
HP:0001311	Abnormal nervous system electrophysiology	9526	MPDU1	OMIM:609180
HP:0001311	Abnormal nervous system electrophysiology	9526	MPDU1	ORPHA:79323
HP:0001311	Abnormal nervous system electrophysiology	8496	PPFIBP1	OMIM:620024
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	OMIM:308350
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	51112	TRAPPC12	ORPHA:500144
HP:0001311	Abnormal nervous system electrophysiology	51112	TRAPPC12	OMIM:617669
HP:0001311	Abnormal nervous system electrophysiology	26275	HIBCH	ORPHA:88639
HP:0001311	Abnormal nervous system electrophysiology	79868	ALG13	OMIM:300884
HP:0001311	Abnormal nervous system electrophysiology	79868	ALG13	ORPHA:324422
HP:0001311	Abnormal nervous system electrophysiology	51506	UFC1	OMIM:618076
HP:0001311	Abnormal nervous system electrophysiology	6487	ST3GAL3	OMIM:615006
HP:0001311	Abnormal nervous system electrophysiology	6487	ST3GAL3	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	112939	NACC1	ORPHA:500545
HP:0001311	Abnormal nervous system electrophysiology	55780	ERMARD	ORPHA:75857
HP:0001311	Abnormal nervous system electrophysiology	55780	ERMARD	OMIM:615544
HP:0001311	Abnormal nervous system electrophysiology	3767	KCNJ11	ORPHA:79134
HP:0001311	Abnormal nervous system electrophysiology	3767	KCNJ11	OMIM:618856
HP:0001311	Abnormal nervous system electrophysiology	79731	NARS2	ORPHA:79134
HP:0001311	Abnormal nervous system electrophysiology	6833	ABCC8	ORPHA:79134
HP:0001311	Abnormal nervous system electrophysiology	4763	NF1	OMIM:162200
HP:0001311	Abnormal nervous system electrophysiology	2560	GABRB1	OMIM:617153
HP:0001311	Abnormal nervous system electrophysiology	79641	ROGDI	OMIM:226750
HP:0001311	Abnormal nervous system electrophysiology	150094	SIK1	OMIM:616341
HP:0001311	Abnormal nervous system electrophysiology	150094	SIK1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	150094	SIK1	ORPHA:1935
HP:0001311	Abnormal nervous system electrophysiology	150094	SIK1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	535	ATP6V0A1	OMIM:619970
HP:0001311	Abnormal nervous system electrophysiology	6709	SPTAN1	OMIM:613477
HP:0001311	Abnormal nervous system electrophysiology	6709	SPTAN1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	9326	ZNHIT3	ORPHA:2836
HP:0001311	Abnormal nervous system electrophysiology	9326	ZNHIT3	OMIM:260565
HP:0001311	Abnormal nervous system electrophysiology	7965	AIMP2	OMIM:618006
HP:0001311	Abnormal nervous system electrophysiology	3054	HCFC1	OMIM:309541
HP:0001311	Abnormal nervous system electrophysiology	9361	LONP1	ORPHA:79243
HP:0001311	Abnormal nervous system electrophysiology	5160	PDHA1	ORPHA:79243
HP:0001311	Abnormal nervous system electrophysiology	5805	PTS	ORPHA:13
HP:0001311	Abnormal nervous system electrophysiology	1327	COX4I1	OMIM:619060
HP:0001311	Abnormal nervous system electrophysiology	25930	PTPN23	OMIM:618890
HP:0001311	Abnormal nervous system electrophysiology	5277	PIGA	OMIM:300868
HP:0001311	Abnormal nervous system electrophysiology	5277	PIGA	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	23327	NEDD4L	OMIM:617201
HP:0001311	Abnormal nervous system electrophysiology	1822	ATN1	OMIM:618494
HP:0001311	Abnormal nervous system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0001311	Abnormal nervous system electrophysiology	4761	NEUROD2	OMIM:618374
HP:0001311	Abnormal nervous system electrophysiology	4761	NEUROD2	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	84896	ATAD1	OMIM:618011
HP:0001311	Abnormal nervous system electrophysiology	1641	DCX	ORPHA:2148
HP:0001311	Abnormal nervous system electrophysiology	284184	NDUFAF8	OMIM:618776
HP:0001311	Abnormal nervous system electrophysiology	26040	SETBP1	OMIM:269150
HP:0001311	Abnormal nervous system electrophysiology	26040	SETBP1	ORPHA:798
HP:0001311	Abnormal nervous system electrophysiology	149371	EXOC8	OMIM:619076
HP:0001311	Abnormal nervous system electrophysiology	23316	CUX2	OMIM:618141
HP:0001311	Abnormal nervous system electrophysiology	6812	STXBP1	OMIM:612164
HP:0001311	Abnormal nervous system electrophysiology	55699	IARS2	OMIM:616007
HP:0001311	Abnormal nervous system electrophysiology	92609	TIMM50	OMIM:617698
HP:0001311	Abnormal nervous system electrophysiology	92609	TIMM50	ORPHA:505216
HP:0001311	Abnormal nervous system electrophysiology	8452	CUL3	OMIM:619239
HP:0001311	Abnormal nervous system electrophysiology	116115	ZNF526	OMIM:619877
HP:0001311	Abnormal nervous system electrophysiology	538	ATP7A	OMIM:309400
HP:0001311	Abnormal nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0001311	Abnormal nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0001311	Abnormal nervous system electrophysiology	85365	ALG2	ORPHA:79326
HP:0001311	Abnormal nervous system electrophysiology	85365	ALG2	OMIM:607906
HP:0001311	Abnormal nervous system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0001311	Abnormal nervous system electrophysiology	728294	D2HGDH	OMIM:600721
HP:0001311	Abnormal nervous system electrophysiology	2571	GAD1	OMIM:619124
HP:0001311	Abnormal nervous system electrophysiology	60558	GUF1	OMIM:617065
HP:0001311	Abnormal nervous system electrophysiology	60558	GUF1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	51124	IER3IP1	OMIM:614231
HP:0001311	Abnormal nervous system electrophysiology	26227	PHGDH	OMIM:601815
HP:0001311	Abnormal nervous system electrophysiology	7358	UGDH	OMIM:618792
HP:0001311	Abnormal nervous system electrophysiology	2904	GRIN2B	OMIM:616139
HP:0001311	Abnormal nervous system electrophysiology	2904	GRIN2B	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	4190	MDH1	OMIM:618959
HP:0001311	Abnormal nervous system electrophysiology	9373	PLAA	ORPHA:521426
HP:0001311	Abnormal nervous system electrophysiology	55704	CCDC88A	OMIM:617507
HP:0001311	Abnormal nervous system electrophysiology	9440	MED17	OMIM:613668
HP:0001311	Abnormal nervous system electrophysiology	221692	PHACTR1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	221692	PHACTR1	OMIM:618298
HP:0001311	Abnormal nervous system electrophysiology	10695	CNPY3	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	10695	CNPY3	OMIM:617929
HP:0001311	Abnormal nervous system electrophysiology	23236	PLCB1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	23236	PLCB1	OMIM:613722
HP:0001311	Abnormal nervous system electrophysiology	11152	WDR45	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	10681	GNB5	ORPHA:542306
HP:0001311	Abnormal nervous system electrophysiology	55739	NAXD	OMIM:618321
HP:0001311	Abnormal nervous system electrophysiology	440	ASNS	OMIM:615574
HP:0001311	Abnormal nervous system electrophysiology	777	CACNA1E	OMIM:618285
HP:0001311	Abnormal nervous system electrophysiology	3785	KCNQ2	ORPHA:439218
HP:0001311	Abnormal nervous system electrophysiology	79718	TBL1XR1	OMIM:616944
HP:0001311	Abnormal nervous system electrophysiology	51294	PCDH12	OMIM:251280
HP:0001311	Abnormal nervous system electrophysiology	64116	SLC39A8	ORPHA:468699
HP:0001311	Abnormal nervous system electrophysiology	5048	PAFAH1B1	ORPHA:95232
HP:0001311	Abnormal nervous system electrophysiology	6509	SLC1A4	ORPHA:447997
HP:0001311	Abnormal nervous system electrophysiology	2801	GOLGA2	OMIM:620240
HP:0001311	Abnormal nervous system electrophysiology	10195	ALG3	OMIM:601110
HP:0001311	Abnormal nervous system electrophysiology	51733	UPB1	OMIM:613161
HP:0001311	Abnormal nervous system electrophysiology	7040	TGFB1	OMIM:618213
HP:0001311	Abnormal nervous system electrophysiology	1496	CTNNA2	OMIM:618174
HP:0001311	Abnormal nervous system electrophysiology	55753	OGDHL	OMIM:619701
HP:0001311	Abnormal nervous system electrophysiology	79751	SLC25A22	ORPHA:1935
HP:0001311	Abnormal nervous system electrophysiology	79751	SLC25A22	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	3736	KCNA1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	9091	PIGQ	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2902	GRIN1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	8573	CASK	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	23312	DMXL2	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2917	GRM7	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	11284	PNKP	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	285362	SUMF1	ORPHA:585
HP:0001311	Abnormal nervous system electrophysiology	4914	NTRK1	ORPHA:642
HP:0001311	Abnormal nervous system electrophysiology	51324	SPG21	ORPHA:101001
HP:0001311	Abnormal nervous system electrophysiology	65250	CPLANE1	ORPHA:65684
HP:0001311	Abnormal nervous system electrophysiology	57562	CEP126	ORPHA:65684
HP:0001311	Abnormal nervous system electrophysiology	9342	SNAP29	ORPHA:66631
HP:0001311	Abnormal nervous system electrophysiology	100134444	KCNJ18	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	779	CACNA1S	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	50846	DHH	ORPHA:168563
HP:0001311	Abnormal nervous system electrophysiology	4000	LMNA	OMIM:605588
HP:0001311	Abnormal nervous system electrophysiology	4000	LMNA	ORPHA:98856
HP:0001311	Abnormal nervous system electrophysiology	81857	MED25	OMIM:605589
HP:0001311	Abnormal nervous system electrophysiology	7384	UQCRC1	OMIM:619279
HP:0001311	Abnormal nervous system electrophysiology	8506	CNTNAP1	OMIM:618186
HP:0001311	Abnormal nervous system electrophysiology	22948	CCT5	ORPHA:139578
HP:0001311	Abnormal nervous system electrophysiology	22948	CCT5	OMIM:256840
HP:0001311	Abnormal nervous system electrophysiology	50717	DCAF8	OMIM:610100
HP:0001311	Abnormal nervous system electrophysiology	3315	HSPB1	OMIM:606595
HP:0001311	Abnormal nervous system electrophysiology	7879	RAB7A	OMIM:600882
HP:0001311	Abnormal nervous system electrophysiology	9150	CTDP1	OMIM:604168
HP:0001311	Abnormal nervous system electrophysiology	56704	JPH1	OMIM:607831
HP:0001311	Abnormal nervous system electrophysiology	23095	KIF1B	OMIM:118210
HP:0001311	Abnormal nervous system electrophysiology	6652	SORD	OMIM:618912
HP:0001311	Abnormal nervous system electrophysiology	90678	LRSAM1	OMIM:614436
HP:0001311	Abnormal nervous system electrophysiology	3710	ITPR3	OMIM:620111
HP:0001311	Abnormal nervous system electrophysiology	81846	SBF2	OMIM:604563
HP:0001311	Abnormal nervous system electrophysiology	10280	SIGMAR1	OMIM:605726
HP:0001311	Abnormal nervous system electrophysiology	23250	ATP11A	OMIM:619851
HP:0001311	Abnormal nervous system electrophysiology	23321	TRIM2	OMIM:615490
HP:0001311	Abnormal nervous system electrophysiology	57449	PLEKHG5	OMIM:615376
HP:0001311	Abnormal nervous system electrophysiology	81545	FBXO38	OMIM:615575
HP:0001311	Abnormal nervous system electrophysiology	259232	NALCN	OMIM:615419
HP:0001311	Abnormal nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0001311	Abnormal nervous system electrophysiology	79628	SH3TC2	ORPHA:99949
HP:0001311	Abnormal nervous system electrophysiology	2705	GJB1	OMIM:302800
HP:0001311	Abnormal nervous system electrophysiology	9517	SPTLC2	OMIM:613640
HP:0001311	Abnormal nervous system electrophysiology	128637	TBC1D20	OMIM:615663
HP:0001311	Abnormal nervous system electrophysiology	55775	TDP1	OMIM:607250
HP:0001311	Abnormal nervous system electrophysiology	84668	HYCC1	OMIM:610532
HP:0001311	Abnormal nervous system electrophysiology	23064	SETX	OMIM:606002
HP:0001311	Abnormal nervous system electrophysiology	6342	SCP2	OMIM:613724
HP:0001311	Abnormal nervous system electrophysiology	121512	FGD4	OMIM:609311
HP:0001311	Abnormal nervous system electrophysiology	5428	POLG	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	1890	TYMP	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	3980	LIG3	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	50484	RRM2B	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	10558	SPTLC1	OMIM:162400
HP:0001311	Abnormal nervous system electrophysiology	5611	DNAJC3	OMIM:616192
HP:0001311	Abnormal nervous system electrophysiology	55768	NGLY1	OMIM:615273
HP:0001311	Abnormal nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0001311	Abnormal nervous system electrophysiology	91574	MTRFR	ORPHA:320375
HP:0001311	Abnormal nervous system electrophysiology	84842	HPDL	OMIM:619026
HP:0001311	Abnormal nervous system electrophysiology	2395	FXN	OMIM:229300
HP:0001311	Abnormal nervous system electrophysiology	9927	MFN2	OMIM:609260
HP:0001311	Abnormal nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0001311	Abnormal nervous system electrophysiology	1959	EGR2	OMIM:145900
HP:0001311	Abnormal nervous system electrophysiology	57716	PRX	OMIM:145900
HP:0001311	Abnormal nervous system electrophysiology	8565	YARS1	OMIM:608323
HP:0001311	Abnormal nervous system electrophysiology	6310	ATXN1	OMIM:164400
HP:0001311	Abnormal nervous system electrophysiology	26278	SACS	OMIM:270550
HP:0001311	Abnormal nervous system electrophysiology	100996717	NOTCH2NLC	OMIM:603472
HP:0001311	Abnormal nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0001311	Abnormal nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0001311	Abnormal nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0001311	Abnormal nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0001311	Abnormal nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0001311	Abnormal nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0001311	Abnormal nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0001311	Abnormal nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0001311	Abnormal nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0001311	Abnormal nervous system electrophysiology	57165	GJC2	ORPHA:320401
HP:0001311	Abnormal nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0001311	Abnormal nervous system electrophysiology	4976	OPA1	OMIM:125250
HP:0001311	Abnormal nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0001311	Abnormal nervous system electrophysiology	23230	VPS13A	ORPHA:2388
HP:0001311	Abnormal nervous system electrophysiology	26353	HSPB8	OMIM:608673
HP:0001311	Abnormal nervous system electrophysiology	25923	ATL3	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	51062	ATL1	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	59341	TRPV4	OMIM:606071
HP:0001311	Abnormal nervous system electrophysiology	5981	RFC1	OMIM:614575
HP:0001311	Abnormal nervous system electrophysiology	4358	MPV17	OMIM:618400
HP:0001311	Abnormal nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0001311	Abnormal nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0001311	Abnormal nervous system electrophysiology	1203	CLN5	ORPHA:228360
HP:0001311	Abnormal nervous system electrophysiology	443	ASPA	OMIM:271900
HP:0001311	Abnormal nervous system electrophysiology	2775	GNAO1	OMIM:617493
HP:0001311	Abnormal nervous system electrophysiology	51604	PIGT	OMIM:615398
HP:0001311	Abnormal nervous system electrophysiology	51604	PIGT	ORPHA:369837
HP:0001311	Abnormal nervous system electrophysiology	8913	CACNA1G	OMIM:618087
HP:0001311	Abnormal nervous system electrophysiology	8218	CLTCL1	ORPHA:453510
HP:0001311	Abnormal nervous system electrophysiology	6711	SPTBN1	OMIM:619475
HP:0001311	Abnormal nervous system electrophysiology	5530	PPP3CA	OMIM:617711
HP:0001311	Abnormal nervous system electrophysiology	51227	PIGP	OMIM:617599
HP:0001311	Abnormal nervous system electrophysiology	132	ADK	OMIM:614300
HP:0001311	Abnormal nervous system electrophysiology	51412	ACTL6B	OMIM:618468
HP:0001311	Abnormal nervous system electrophysiology	85440	DOCK7	ORPHA:411986
HP:0001311	Abnormal nervous system electrophysiology	22845	DOLK	ORPHA:91131
HP:0001311	Abnormal nervous system electrophysiology	23389	MED13L	ORPHA:369891
HP:0001311	Abnormal nervous system electrophysiology	6335	SCN9A	ORPHA:33069
HP:0001311	Abnormal nervous system electrophysiology	6326	SCN2A	ORPHA:33069
HP:0001311	Abnormal nervous system electrophysiology	6324	SCN1B	ORPHA:33069
HP:0001311	Abnormal nervous system electrophysiology	57526	PCDH19	ORPHA:33069
HP:0001311	Abnormal nervous system electrophysiology	10128	LRPPRC	ORPHA:70472
HP:0001311	Abnormal nervous system electrophysiology	501	ALDH7A1	ORPHA:3006
HP:0001311	Abnormal nervous system electrophysiology	11212	PLPBP	ORPHA:3006
HP:0001311	Abnormal nervous system electrophysiology	8131	NPRL3	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	10641	NPRL2	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	9681	DEPDC5	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	6821	SUOX	OMIM:272300
HP:0001311	Abnormal nervous system electrophysiology	4615	MYD88	ORPHA:33226
HP:0001311	Abnormal nervous system electrophysiology	6792	CDKL5	ORPHA:505652
HP:0001311	Abnormal nervous system electrophysiology	1468	SLC25A10	OMIM:618972
HP:0001311	Abnormal nervous system electrophysiology	79587	CARS2	OMIM:616672
HP:0001311	Abnormal nervous system electrophysiology	2257	FGF12	OMIM:617166
HP:0001311	Abnormal nervous system electrophysiology	2782	GNB1	ORPHA:488613
HP:0001311	Abnormal nervous system electrophysiology	2782	GNB1	OMIM:616973
HP:0001311	Abnormal nervous system electrophysiology	1106	CHD2	OMIM:615369
HP:0001311	Abnormal nervous system electrophysiology	1806	DPYD	ORPHA:1675
HP:0001311	Abnormal nervous system electrophysiology	478	ATP1A3	OMIM:619606
HP:0001311	Abnormal nervous system electrophysiology	7280	TUBB2A	OMIM:615763
HP:0001311	Abnormal nervous system electrophysiology	6334	SCN8A	OMIM:614558
HP:0001311	Abnormal nervous system electrophysiology	10565	ARFGEF1	OMIM:619964
HP:0001311	Abnormal nervous system electrophysiology	6304	SATB1	OMIM:619229
HP:0001311	Abnormal nervous system electrophysiology	9568	GABBR2	OMIM:617904
HP:0001311	Abnormal nervous system electrophysiology	56052	ALG1	OMIM:608540
HP:0001311	Abnormal nervous system electrophysiology	8869	ST3GAL5	OMIM:609056
HP:0001311	Abnormal nervous system electrophysiology	1759	DNM1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	8120	AP3B2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	523	ATP6V1A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	10991	SLC38A3	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	51343	FZR1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	22906	TRAK1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	1917	EEF1A2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2561	GABRB2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	7532	YWHAG	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	79876	UBA5	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	6328	SCN3A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2558	GABRA5	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	781	CACNA2D1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2906	GRIN2D	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	116150	NUS1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	10659	CELF2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	774	CACNA1B	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	1213	CLTC	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	51741	WWOX	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	23334	SZT2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	348980	HCN1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	6506	SLC1A2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	8867	SYNJ1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2258	FGF13	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	477	ATP1A2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	3745	KCNB1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	284111	SLC13A5	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	25977	NECAP1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	16	AARS1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	22866	CNKSR2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2555	GABRA2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	55152	DALRD3	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	773	CACNA1A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	26999	CYFIP2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	4915	NTRK2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	25973	PARS2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	23097	CDK19	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	64801	ARV1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	79947	DHDDS	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	84992	PIGY	OMIM:616809
HP:0001311	Abnormal nervous system electrophysiology	2903	GRIN2A	ORPHA:289266
HP:0001311	Abnormal nervous system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0001311	Abnormal nervous system electrophysiology	11133	KPTN	ORPHA:397612
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	OMIM:300055
HP:0001311	Abnormal nervous system electrophysiology	283987	HID1	OMIM:619983
HP:0001311	Abnormal nervous system electrophysiology	10588	MTHFS	OMIM:618367
HP:0001311	Abnormal nervous system electrophysiology	2893	GRIA4	OMIM:617864
HP:0001311	Abnormal nervous system electrophysiology	1593	CYP27A1	OMIM:213700
HP:0001311	Abnormal nervous system electrophysiology	11342	RNF13	ORPHA:544503
HP:0001311	Abnormal nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0001311	Abnormal nervous system electrophysiology	8831	SYNGAP1	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	1173	AP2M1	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	340533	NEXMIF	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	6529	SLC6A1	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	26047	CNTNAP2	ORPHA:163681
HP:0001311	Abnormal nervous system electrophysiology	5621	PRNP	ORPHA:282166
HP:0001311	Abnormal nervous system electrophysiology	2581	GALC	ORPHA:206443
HP:0001311	Abnormal nervous system electrophysiology	6513	SLC2A1	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	2562	GABRB3	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	2554	GABRA1	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	8912	CACNA1H	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	8629	JRK	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	3737	KCNA2	OMIM:616366
HP:0001311	Abnormal nervous system electrophysiology	23067	SETD1B	OMIM:619000
HP:0001311	Abnormal nervous system electrophysiology	6323	SCN1A	OMIM:619317
HP:0001311	Abnormal nervous system electrophysiology	3778	KCNMA1	OMIM:609446
HP:0001311	Abnormal nervous system electrophysiology	3778	KCNMA1	ORPHA:79137
HP:0001311	Abnormal nervous system electrophysiology	114327	EFHC1	OMIM:607631
HP:0001311	Abnormal nervous system electrophysiology	2566	GABRG2	OMIM:607681
HP:0001311	Abnormal nervous system electrophysiology	10157	AASS	ORPHA:2203
HP:0001311	Abnormal nervous system electrophysiology	57094	CPA6	OMIM:614417
HP:0001311	Abnormal nervous system electrophysiology	112755	STX1B	ORPHA:36387
HP:0001311	Abnormal nervous system electrophysiology	84059	ADGRV1	ORPHA:36387
HP:0001311	Abnormal nervous system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0001311	Abnormal nervous system electrophysiology	1020	CDK5	OMIM:616342
HP:0001311	Abnormal nervous system electrophysiology	94005	PIGS	OMIM:618143
HP:0001311	Abnormal nervous system electrophysiology	8818	DPM2	ORPHA:329178
HP:0001311	Abnormal nervous system electrophysiology	708	C1QBP	OMIM:617713
HP:0001311	Abnormal nervous system electrophysiology	2744	GLS	OMIM:618328
HP:0001311	Abnormal nervous system electrophysiology	57176	VARS2	OMIM:615917
HP:0001311	Abnormal nervous system electrophysiology	7707	ZNF148	OMIM:617260
HP:0001311	Abnormal nervous system electrophysiology	91137	SLC25A46	OMIM:619303
HP:0001311	Abnormal nervous system electrophysiology	18	ABAT	OMIM:613163
HP:0001311	Abnormal nervous system electrophysiology	4905	NSF	OMIM:619340
HP:0001311	Abnormal nervous system electrophysiology	221927	BRAT1	OMIM:614498
HP:0001311	Abnormal nervous system electrophysiology	55163	PNPO	ORPHA:79096
HP:0001311	Abnormal nervous system electrophysiology	23219	FBXO28	OMIM:619777
HP:0001311	Abnormal nervous system electrophysiology	55164	SHQ1	OMIM:619922
HP:0001311	Abnormal nervous system electrophysiology	10715	CERS1	OMIM:616230
HP:0001311	Abnormal nervous system electrophysiology	26960	NBEA	OMIM:619157
HP:0001311	Abnormal nervous system electrophysiology	2892	GRIA3	OMIM:300699
HP:0001311	Abnormal nervous system electrophysiology	104	ADARB1	OMIM:618862
HP:0001311	Abnormal nervous system electrophysiology	92335	STRADA	ORPHA:500533
HP:0001311	Abnormal nervous system electrophysiology	2890	GRIA1	OMIM:619931
HP:0001311	Abnormal nervous system electrophysiology	9570	GOSR2	OMIM:620166
HP:0001311	Abnormal nervous system electrophysiology	84081	NSRP1	OMIM:620001
HP:0001311	Abnormal nervous system electrophysiology	815	CAMK2A	OMIM:618095
HP:0001311	Abnormal nervous system electrophysiology	10479	SLC9A6	OMIM:300243
HP:0001311	Abnormal nervous system electrophysiology	10844	TUBGCP2	OMIM:618737
HP:0001311	Abnormal nervous system electrophysiology	6900	CNTN2	OMIM:615400
HP:0001311	Abnormal nervous system electrophysiology	7407	VARS1	OMIM:617802
HP:0001311	Abnormal nervous system electrophysiology	4131	MAP1B	OMIM:618918
HP:0001311	Abnormal nervous system electrophysiology	154881	KCTD7	ORPHA:263516
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	ORPHA:98795
HP:0001311	Abnormal nervous system electrophysiology	5649	RELN	ORPHA:101046
HP:0001311	Abnormal nervous system electrophysiology	9211	LGI1	ORPHA:101046
HP:0001311	Abnormal nervous system electrophysiology	284058	KANSL1	ORPHA:363965
HP:0001311	Abnormal nervous system electrophysiology	284058	KANSL1	ORPHA:363958
HP:0001311	Abnormal nervous system electrophysiology	54681	P4HTM	OMIM:618493
HP:0001311	Abnormal nervous system electrophysiology	1137	CHRNA4	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	1135	CHRNA2	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57010	CABP4	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	1141	CHRNB2	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57582	KCNT1	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	1392	CRH	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57107	PDSS2	ORPHA:255249
HP:0001311	Abnormal nervous system electrophysiology	27235	COQ2	ORPHA:255249
HP:0001311	Abnormal nervous system electrophysiology	54872	PIGG	ORPHA:488635
HP:0001311	Abnormal nervous system electrophysiology	54872	PIGG	OMIM:616917
HP:0001311	Abnormal nervous system electrophysiology	1183	CLCN4	ORPHA:485350
HP:0001311	Abnormal nervous system electrophysiology	5602	MAPK10	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	6857	SYT1	ORPHA:522077
HP:0001311	Abnormal nervous system electrophysiology	1605	DAG1	ORPHA:370997
HP:0001311	Abnormal nervous system electrophysiology	2746	GLUD1	ORPHA:35878
HP:0001311	Abnormal nervous system electrophysiology	3746	KCNC1	OMIM:616187
HP:0001311	Abnormal nervous system electrophysiology	440138	ALG11	OMIM:613661
HP:0001311	Abnormal nervous system electrophysiology	55367	PIDD1	OMIM:619827
HP:0001311	Abnormal nervous system electrophysiology	93627	TBCK	ORPHA:488632
HP:0001311	Abnormal nervous system electrophysiology	2055	CLN8	ORPHA:1947
HP:0001311	Abnormal nervous system electrophysiology	8659	ALDH4A1	ORPHA:79101
HP:0001311	Abnormal nervous system electrophysiology	25978	CHMP2B	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	25978	CHMP2B	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	5663	PSEN1	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	5663	PSEN1	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	2896	GRN	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	2896	GRN	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	54664	TMEM106B	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	54664	TMEM106B	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	8878	SQSTM1	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	4137	MAPT	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	4137	MAPT	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	7030	TFE3	OMIM:301066
HP:0001311	Abnormal nervous system electrophysiology	23229	ARHGEF9	ORPHA:163985
HP:0001311	Abnormal nervous system electrophysiology	54332	GDAP1	ORPHA:99948
HP:0001311	Abnormal nervous system electrophysiology	3098	HK1	ORPHA:99953
HP:0001311	Abnormal nervous system electrophysiology	23096	IQSEC2	ORPHA:217377
HP:0001311	Abnormal nervous system electrophysiology	23732	FRRS1L	ORPHA:725
HP:0001311	Abnormal nervous system electrophysiology	10273	STUB1	ORPHA:412057
HP:0001311	Abnormal nervous system electrophysiology	6253	RTN2	ORPHA:100993
HP:0001311	Abnormal nervous system electrophysiology	51271	UBAP1	ORPHA:100993
HP:0001311	Abnormal nervous system electrophysiology	126129	CPT1C	ORPHA:444099
HP:0001311	Abnormal nervous system electrophysiology	3839	KPNA3	ORPHA:171612
HP:0001311	Abnormal nervous system electrophysiology	9897	WASHC5	ORPHA:100989
HP:0001311	Abnormal nervous system electrophysiology	9197	SLC33A1	ORPHA:171863
HP:0001311	Abnormal nervous system electrophysiology	10815	CPLX1	ORPHA:352582
HP:0001311	Abnormal nervous system electrophysiology	5290	PIK3CA	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	2475	MTOR	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	10000	AKT3	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0001311	Abnormal nervous system electrophysiology	10342	TFG	ORPHA:90117
HP:0001311	Abnormal nervous system electrophysiology	80036	TRPM3	OMIM:620224
HP:0001311	Abnormal nervous system electrophysiology	6134	RPL10	ORPHA:459070
HP:0001311	Abnormal nervous system electrophysiology	10049	DNAJB6	OMIM:603511
HP:0001311	Abnormal nervous system electrophysiology	11117	EMILIN1	OMIM:620080
HP:0001311	Abnormal nervous system electrophysiology	5375	PMP2	OMIM:618279
HP:0001311	Abnormal nervous system electrophysiology	7317	UBA1	OMIM:301830
HP:0001311	Abnormal nervous system electrophysiology	57863	CADM3	OMIM:619519
HP:0001311	Abnormal nervous system electrophysiology	3735	KARS1	OMIM:613641
HP:0001311	Abnormal nervous system electrophysiology	57679	ALS2	OMIM:606353
HP:0001311	Abnormal nervous system electrophysiology	81603	TRIM8	OMIM:619428
HP:0001311	Abnormal nervous system electrophysiology	23102	TBC1D2B	OMIM:619323
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93474
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93473
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93476
HP:0001311	Abnormal nervous system electrophysiology	10935	PRDX3	OMIM:619862
HP:0001311	Abnormal nervous system electrophysiology	22880	MORC2	ORPHA:466768
HP:0001311	Abnormal nervous system electrophysiology	84466	MEGF10	OMIM:614399
HP:0001311	Abnormal nervous system electrophysiology	60482	SLC5A7	OMIM:158580
HP:0001311	Abnormal nervous system electrophysiology	2617	GARS1	ORPHA:139536
HP:0001311	Abnormal nervous system electrophysiology	26580	BSCL2	ORPHA:139536
HP:0001311	Abnormal nervous system electrophysiology	26580	BSCL2	ORPHA:100998
HP:0001311	Abnormal nervous system electrophysiology	65055	REEP1	ORPHA:139536
HP:0001311	Abnormal nervous system electrophysiology	8560	DEGS1	OMIM:618404
HP:0001311	Abnormal nervous system electrophysiology	400916	CHCHD10	ORPHA:276435
HP:0001311	Abnormal nervous system electrophysiology	28982	FLVCR1	ORPHA:88628
HP:0001311	Abnormal nervous system electrophysiology	7274	TTPA	OMIM:277460
HP:0002533	Abnormal posturing	1678	TIMM8A	OMIM:304700
HP:0002533	Abnormal posturing	57724	EPG5	OMIM:242840
HP:0002533	Abnormal posturing	84909	AOPEP	OMIM:619565
HP:0002533	Abnormal posturing	5826	ABCD4	OMIM:614857
HP:0002533	Abnormal posturing	5621	PRNP	ORPHA:157941
HP:0002533	Abnormal posturing	1861	TOR1A	OMIM:128100
HP:0002533	Abnormal posturing	80025	PANK2	ORPHA:216866
HP:0001336	Myoclonus	25792	CIZ1	ORPHA:420492
HP:0001336	Myoclonus	5274	SERPINI1	OMIM:604218
HP:0001336	Myoclonus	3064	HTT	ORPHA:399
HP:0001336	Myoclonus	3064	HTT	ORPHA:248111
HP:0001336	Myoclonus	6515	SLC2A3	ORPHA:399
HP:0001336	Myoclonus	158	ADSL	OMIM:103050
HP:0001336	Myoclonus	10617	STAMBP	OMIM:614261
HP:0001336	Myoclonus	6309	SC5D	ORPHA:46059
HP:0001336	Myoclonus	51102	MECR	ORPHA:508093
HP:0001336	Myoclonus	51102	MECR	OMIM:617282
HP:0001336	Myoclonus	55624	POMGNT1	OMIM:253280
HP:0001336	Myoclonus	10667	FARS2	OMIM:614946
HP:0001336	Myoclonus	10667	FARS2	ORPHA:466722
HP:0001336	Myoclonus	51343	FZR1	OMIM:620145
HP:0001336	Myoclonus	51343	FZR1	ORPHA:442835
HP:0001336	Myoclonus	4758	NEU1	OMIM:256550
HP:0001336	Myoclonus	4758	NEU1	ORPHA:93399
HP:0001336	Myoclonus	4758	NEU1	ORPHA:812
HP:0001336	Myoclonus	4758	NEU1	ORPHA:93400
HP:0001336	Myoclonus	132158	GLYCTK	ORPHA:941
HP:0001336	Myoclonus	132158	GLYCTK	OMIM:220120
HP:0001336	Myoclonus	2731	GLDC	OMIM:605899
HP:0001336	Myoclonus	275	AMT	OMIM:605899
HP:0001336	Myoclonus	54209	TREM2	OMIM:618193
HP:0001336	Myoclonus	54209	TREM2	ORPHA:1020
HP:0001336	Myoclonus	51218	GLRX5	ORPHA:401866
HP:0001336	Myoclonus	51112	TRAPPC12	ORPHA:500144
HP:0001336	Myoclonus	51112	TRAPPC12	OMIM:617669
HP:0001336	Myoclonus	51506	UFC1	OMIM:618076
HP:0001336	Myoclonus	6311	ATXN2	OMIM:183090
HP:0001336	Myoclonus	8722	CTSF	OMIM:615362
HP:0001336	Myoclonus	56997	COQ8A	ORPHA:139485
HP:0001336	Myoclonus	56997	COQ8A	OMIM:612016
HP:0001336	Myoclonus	6392	SDHD	OMIM:619167
HP:0001336	Myoclonus	1841	DTYMK	OMIM:619847
HP:0001336	Myoclonus	55689	YEATS2	OMIM:615127
HP:0001336	Myoclonus	55689	YEATS2	ORPHA:86814
HP:0001336	Myoclonus	472	ATM	OMIM:208900
HP:0001336	Myoclonus	54982	CLN6	OMIM:204300
HP:0001336	Myoclonus	10501	SEMA6B	OMIM:618876
HP:0001336	Myoclonus	5610	EIF2AK2	OMIM:618877
HP:0001336	Myoclonus	55163	PNPO	ORPHA:79096
HP:0001336	Myoclonus	55163	PNPO	OMIM:610090
HP:0001336	Myoclonus	3781	KCNN2	OMIM:619724
HP:0001336	Myoclonus	3781	KCNN2	OMIM:619725
HP:0001336	Myoclonus	2475	MTOR	ORPHA:99802
HP:0001336	Myoclonus	10000	AKT3	ORPHA:99802
HP:0001336	Myoclonus	4884	NPTX1	OMIM:620158
HP:0001336	Myoclonus	26580	BSCL2	OMIM:615924
HP:0001336	Myoclonus	26580	BSCL2	ORPHA:363400
HP:0001336	Myoclonus	55768	NGLY1	ORPHA:404454
HP:0001336	Myoclonus	55768	NGLY1	OMIM:615273
HP:0001336	Myoclonus	63982	ANO3	ORPHA:420485
HP:0001336	Myoclonus	79693	YRDC	OMIM:619609
HP:0001336	Myoclonus	23400	ATP13A2	ORPHA:314632
HP:0001336	Myoclonus	23400	ATP13A2	ORPHA:306674
HP:0001336	Myoclonus	23400	ATP13A2	OMIM:606693
HP:0001336	Myoclonus	7259	TSPYL1	ORPHA:168593
HP:0001336	Myoclonus	7054	TH	OMIM:605407
HP:0001336	Myoclonus	7054	TH	ORPHA:101150
HP:0001336	Myoclonus	348	APOE	OMIM:607822
HP:0001336	Myoclonus	5663	PSEN1	OMIM:607822
HP:0001336	Myoclonus	5663	PSEN1	ORPHA:1020
HP:0001336	Myoclonus	84992	PIGY	ORPHA:247262
HP:0001336	Myoclonus	84720	PIGO	ORPHA:247262
HP:0001336	Myoclonus	93210	PGAP3	ORPHA:247262
HP:0001336	Myoclonus	284098	PIGW	ORPHA:247262
HP:0001336	Myoclonus	27315	PGAP2	ORPHA:247262
HP:0001336	Myoclonus	55650	PIGV	ORPHA:247262
HP:0001336	Myoclonus	9487	PIGL	ORPHA:247262
HP:0001336	Myoclonus	3074	HEXB	ORPHA:309155
HP:0001336	Myoclonus	2892	GRIA3	OMIM:300699
HP:0001336	Myoclonus	2892	GRIA3	ORPHA:364028
HP:0001336	Myoclonus	1600	DAB1	ORPHA:363710
HP:0001336	Myoclonus	100131801	PET100	OMIM:619055
HP:0001336	Myoclonus	3899	AFF3	OMIM:619297
HP:0001336	Myoclonus	55037	PTCD3	OMIM:619057
HP:0001336	Myoclonus	1183	CLCN4	ORPHA:485350
HP:0001336	Myoclonus	114034	TOE1	OMIM:614969
HP:0001336	Myoclonus	114034	TOE1	ORPHA:284339
HP:0001336	Myoclonus	5428	POLG	ORPHA:726
HP:0001336	Myoclonus	5428	POLG	OMIM:203700
HP:0001336	Myoclonus	5428	POLG	OMIM:607459
HP:0001336	Myoclonus	5428	POLG	ORPHA:70595
HP:0001336	Myoclonus	54675	CRLS1	OMIM:620167
HP:0001336	Myoclonus	7080	NKX2-1	ORPHA:209905
HP:0001336	Myoclonus	10939	AFG3L2	ORPHA:313772
HP:0001336	Myoclonus	10939	AFG3L2	OMIM:614487
HP:0001336	Myoclonus	55187	VPS13D	ORPHA:95434
HP:0001336	Myoclonus	55187	VPS13D	OMIM:607317
HP:0001336	Myoclonus	27072	VPS41	ORPHA:95434
HP:0001336	Myoclonus	283989	TSEN54	ORPHA:166063
HP:0001336	Myoclonus	283989	TSEN54	OMIM:225753
HP:0001336	Myoclonus	55149	MTPAP	ORPHA:254343
HP:0001336	Myoclonus	1327	COX4I1	OMIM:619060
HP:0001336	Myoclonus	1759	DNM1	ORPHA:2382
HP:0001336	Myoclonus	1759	DNM1	ORPHA:442835
HP:0001336	Myoclonus	1759	DNM1	OMIM:620352
HP:0001336	Myoclonus	5602	MAPK10	ORPHA:2382
HP:0001336	Myoclonus	773	CACNA1A	ORPHA:2382
HP:0001336	Myoclonus	773	CACNA1A	ORPHA:442835
HP:0001336	Myoclonus	6323	SCN1A	ORPHA:2382
HP:0001336	Myoclonus	6323	SCN1A	OMIM:619317
HP:0001336	Myoclonus	6323	SCN1A	ORPHA:33069
HP:0001336	Myoclonus	23316	CUX2	ORPHA:2382
HP:0001336	Myoclonus	1106	CHD2	ORPHA:2382
HP:0001336	Myoclonus	4558	MT-TF	OMIM:545000
HP:0001336	Myoclonus	4558	MT-TF	ORPHA:550
HP:0001336	Myoclonus	4567	MT-TL1	OMIM:545000
HP:0001336	Myoclonus	4567	MT-TL1	ORPHA:550
HP:0001336	Myoclonus	4571	MT-TP	OMIM:545000
HP:0001336	Myoclonus	4566	MT-TK	OMIM:545000
HP:0001336	Myoclonus	4565	MT-TI	OMIM:545000
HP:0001336	Myoclonus	4697	NDUFA4	OMIM:619065
HP:0001336	Myoclonus	2903	GRIN2A	ORPHA:289266
HP:0001336	Myoclonus	388962	BOLA3	OMIM:614299
HP:0001336	Myoclonus	1201	CLN3	OMIM:204200
HP:0001336	Myoclonus	84342	COG8	ORPHA:95428
HP:0001336	Myoclonus	3737	KCNA2	ORPHA:442835
HP:0001336	Myoclonus	3737	KCNA2	OMIM:616366
HP:0001336	Myoclonus	8120	AP3B2	ORPHA:442835
HP:0001336	Myoclonus	523	ATP6V1A	ORPHA:442835
HP:0001336	Myoclonus	10991	SLC38A3	ORPHA:442835
HP:0001336	Myoclonus	22906	TRAK1	ORPHA:442835
HP:0001336	Myoclonus	22906	TRAK1	OMIM:618201
HP:0001336	Myoclonus	1917	EEF1A2	ORPHA:442835
HP:0001336	Myoclonus	2561	GABRB2	ORPHA:442835
HP:0001336	Myoclonus	2561	GABRB2	OMIM:617829
HP:0001336	Myoclonus	8831	SYNGAP1	ORPHA:442835
HP:0001336	Myoclonus	7532	YWHAG	ORPHA:442835
HP:0001336	Myoclonus	79876	UBA5	ORPHA:442835
HP:0001336	Myoclonus	6328	SCN3A	ORPHA:442835
HP:0001336	Myoclonus	2558	GABRA5	ORPHA:442835
HP:0001336	Myoclonus	781	CACNA2D1	ORPHA:442835
HP:0001336	Myoclonus	2906	GRIN2D	ORPHA:442835
HP:0001336	Myoclonus	116150	NUS1	ORPHA:442835
HP:0001336	Myoclonus	10659	CELF2	ORPHA:442835
HP:0001336	Myoclonus	774	CACNA1B	ORPHA:442835
HP:0001336	Myoclonus	774	CACNA1B	OMIM:618497
HP:0001336	Myoclonus	1213	CLTC	ORPHA:442835
HP:0001336	Myoclonus	1213	CLTC	OMIM:617854
HP:0001336	Myoclonus	51741	WWOX	ORPHA:442835
HP:0001336	Myoclonus	23334	SZT2	ORPHA:442835
HP:0001336	Myoclonus	51412	ACTL6B	ORPHA:442835
HP:0001336	Myoclonus	348980	HCN1	ORPHA:442835
HP:0001336	Myoclonus	6506	SLC1A2	ORPHA:442835
HP:0001336	Myoclonus	8867	SYNJ1	ORPHA:442835
HP:0001336	Myoclonus	8867	SYNJ1	ORPHA:391411
HP:0001336	Myoclonus	2258	FGF13	ORPHA:442835
HP:0001336	Myoclonus	477	ATP1A2	ORPHA:442835
HP:0001336	Myoclonus	3745	KCNB1	ORPHA:442835
HP:0001336	Myoclonus	284111	SLC13A5	ORPHA:442835
HP:0001336	Myoclonus	25977	NECAP1	ORPHA:442835
HP:0001336	Myoclonus	16	AARS1	ORPHA:442835
HP:0001336	Myoclonus	22866	CNKSR2	ORPHA:442835
HP:0001336	Myoclonus	2555	GABRA2	ORPHA:442835
HP:0001336	Myoclonus	55152	DALRD3	ORPHA:442835
HP:0001336	Myoclonus	26999	CYFIP2	ORPHA:442835
HP:0001336	Myoclonus	4915	NTRK2	ORPHA:442835
HP:0001336	Myoclonus	4915	NTRK2	ORPHA:3451
HP:0001336	Myoclonus	25973	PARS2	ORPHA:442835
HP:0001336	Myoclonus	23097	CDK19	ORPHA:442835
HP:0001336	Myoclonus	64801	ARV1	ORPHA:442835
HP:0001336	Myoclonus	79947	DHDDS	ORPHA:442835
HP:0001336	Myoclonus	2257	FGF12	ORPHA:442835
HP:0001336	Myoclonus	5530	PPP3CA	ORPHA:442835
HP:0001336	Myoclonus	9152	SLC6A5	OMIM:614618
HP:0001336	Myoclonus	9152	SLC6A5	ORPHA:3197
HP:0001336	Myoclonus	6908	TBP	OMIM:607136
HP:0001336	Myoclonus	2629	GBA1	OMIM:231000
HP:0001336	Myoclonus	2743	GLRB	OMIM:614619
HP:0001336	Myoclonus	2743	GLRB	ORPHA:3197
HP:0001336	Myoclonus	84138	SLC7A6OS	OMIM:619191
HP:0001336	Myoclonus	8021	NUP214	OMIM:618426
HP:0001336	Myoclonus	3748	KCNC3	ORPHA:98768
HP:0001336	Myoclonus	3748	KCNC3	OMIM:605259
HP:0001336	Myoclonus	60481	ELOVL5	OMIM:615957
HP:0001336	Myoclonus	5582	PRKCG	ORPHA:98763
HP:0001336	Myoclonus	1822	ATN1	ORPHA:101
HP:0001336	Myoclonus	1822	ATN1	OMIM:125370
HP:0001336	Myoclonus	111	ADCY5	OMIM:606703
HP:0001336	Myoclonus	111	ADCY5	OMIM:619647
HP:0001336	Myoclonus	111	ADCY5	ORPHA:324588
HP:0001336	Myoclonus	111	ADCY5	OMIM:619651
HP:0001336	Myoclonus	9533	POLR1C	OMIM:616494
HP:0001336	Myoclonus	2720	GLB1	OMIM:230650
HP:0001336	Myoclonus	2904	GRIN2B	OMIM:616139
HP:0001336	Myoclonus	2904	GRIN2B	ORPHA:3451
HP:0001336	Myoclonus	221692	PHACTR1	ORPHA:3451
HP:0001336	Myoclonus	6487	ST3GAL3	ORPHA:3451
HP:0001336	Myoclonus	10695	CNPY3	ORPHA:3451
HP:0001336	Myoclonus	23236	PLCB1	ORPHA:3451
HP:0001336	Myoclonus	150094	SIK1	ORPHA:3451
HP:0001336	Myoclonus	150094	SIK1	ORPHA:1935
HP:0001336	Myoclonus	150094	SIK1	ORPHA:1934
HP:0001336	Myoclonus	6709	SPTAN1	ORPHA:3451
HP:0001336	Myoclonus	60558	GUF1	ORPHA:3451
HP:0001336	Myoclonus	60558	GUF1	OMIM:617065
HP:0001336	Myoclonus	11152	WDR45	ORPHA:3451
HP:0001336	Myoclonus	5277	PIGA	ORPHA:3451
HP:0001336	Myoclonus	5277	PIGA	OMIM:301072
HP:0001336	Myoclonus	3662	IRF4	ORPHA:3452
HP:0001336	Myoclonus	4677	NARS1	OMIM:619092
HP:0001336	Myoclonus	55739	NAXD	OMIM:618321
HP:0001336	Myoclonus	3798	KIF5A	OMIM:617235
HP:0001336	Myoclonus	55275	VPS53	OMIM:615851
HP:0001336	Myoclonus	23219	FBXO28	OMIM:619777
HP:0001336	Myoclonus	5664	PSEN2	ORPHA:1020
HP:0001336	Myoclonus	10452	TOMM40	ORPHA:1020
HP:0001336	Myoclonus	351	APP	ORPHA:1020
HP:0001336	Myoclonus	351	APP	ORPHA:324708
HP:0001336	Myoclonus	10347	ABCA7	ORPHA:1020
HP:0001336	Myoclonus	6653	SORL1	ORPHA:1020
HP:0001336	Myoclonus	3752	KCND3	OMIM:607346
HP:0001336	Myoclonus	85440	DOCK7	OMIM:615859
HP:0001336	Myoclonus	85440	DOCK7	ORPHA:411986
HP:0001336	Myoclonus	84978	FRMD5	OMIM:620094
HP:0001336	Myoclonus	2055	CLN8	OMIM:600143
HP:0001336	Myoclonus	27247	NFU1	OMIM:605711
HP:0001336	Myoclonus	56652	TWNK	OMIM:607459
HP:0001336	Myoclonus	56652	TWNK	ORPHA:70595
HP:0001336	Myoclonus	80331	DNAJC5	OMIM:162350
HP:0001336	Myoclonus	81570	CLPB	OMIM:616271
HP:0001336	Myoclonus	81570	CLPB	ORPHA:445038
HP:0001336	Myoclonus	91137	SLC25A46	OMIM:619303
HP:0001336	Myoclonus	91137	SLC25A46	OMIM:616505
HP:0001336	Myoclonus	3980	LIG3	OMIM:619780
HP:0001336	Myoclonus	25793	FBXO7	ORPHA:171695
HP:0001336	Myoclonus	6622	SNCA	ORPHA:171695
HP:0001336	Myoclonus	6622	SNCA	OMIM:168601
HP:0001336	Myoclonus	6872	TAF1	OMIM:314250
HP:0001336	Myoclonus	6872	TAF1	ORPHA:53351
HP:0001336	Myoclonus	5813	PURA	OMIM:616158
HP:0001336	Myoclonus	5813	PURA	ORPHA:314655
HP:0001336	Myoclonus	79751	SLC25A22	ORPHA:1935
HP:0001336	Myoclonus	79751	SLC25A22	ORPHA:1934
HP:0001336	Myoclonus	3736	KCNA1	ORPHA:1934
HP:0001336	Myoclonus	9091	PIGQ	ORPHA:1934
HP:0001336	Myoclonus	2775	GNAO1	ORPHA:1934
HP:0001336	Myoclonus	81603	TRIM8	ORPHA:1934
HP:0001336	Myoclonus	8573	CASK	ORPHA:1934
HP:0001336	Myoclonus	23312	DMXL2	ORPHA:1934
HP:0001336	Myoclonus	2917	GRM7	ORPHA:1934
HP:0001336	Myoclonus	11284	PNKP	ORPHA:1934
HP:0001336	Myoclonus	51227	PIGP	ORPHA:1934
HP:0001336	Myoclonus	6324	SCN1B	ORPHA:1934
HP:0001336	Myoclonus	6324	SCN1B	ORPHA:33069
HP:0001336	Myoclonus	4761	NEUROD2	ORPHA:1934
HP:0001336	Myoclonus	3155	HMGCL	ORPHA:20
HP:0001336	Myoclonus	3155	HMGCL	OMIM:246450
HP:0001336	Myoclonus	4572	MT-TQ	ORPHA:550
HP:0001336	Myoclonus	4512	MT-CO1	ORPHA:550
HP:0001336	Myoclonus	4513	MT-CO2	ORPHA:550
HP:0001336	Myoclonus	4514	MT-CO3	ORPHA:550
HP:0001336	Myoclonus	4578	MT-TW	ORPHA:550
HP:0001336	Myoclonus	4540	MT-ND5	ORPHA:550
HP:0001336	Myoclonus	4541	MT-ND6	ORPHA:550
HP:0001336	Myoclonus	4535	MT-ND1	ORPHA:550
HP:0001336	Myoclonus	4538	MT-ND4	ORPHA:550
HP:0001336	Myoclonus	4574	MT-TS1	ORPHA:550
HP:0001336	Myoclonus	4575	MT-TS2	ORPHA:550
HP:0001336	Myoclonus	4564	MT-TH	ORPHA:550
HP:0001336	Myoclonus	1173	AP2M1	OMIM:618587
HP:0001336	Myoclonus	4723	NDUFV1	OMIM:618225
HP:0001336	Myoclonus	9256	TSPOAP1	ORPHA:101150
HP:0001336	Myoclonus	23114	NFASC	OMIM:618356
HP:0001336	Myoclonus	5160	PDHA1	OMIM:312170
HP:0001336	Myoclonus	2782	GNB1	OMIM:616973
HP:0001336	Myoclonus	23095	KIF1B	OMIM:256700
HP:0001336	Myoclonus	6900	CNTN2	OMIM:615400
HP:0001336	Myoclonus	6900	CNTN2	ORPHA:86814
HP:0001336	Myoclonus	5660	PSAP	ORPHA:139406
HP:0001336	Myoclonus	5660	PSAP	OMIM:611721
HP:0001336	Myoclonus	5660	PSAP	OMIM:610539
HP:0001336	Myoclonus	5660	PSAP	ORPHA:206436
HP:0001336	Myoclonus	29968	PSAT1	OMIM:610992
HP:0001336	Myoclonus	29968	PSAT1	ORPHA:284417
HP:0001336	Myoclonus	91869	RFT1	OMIM:612015
HP:0001336	Myoclonus	1644	DDC	OMIM:608643
HP:0001336	Myoclonus	8869	ST3GAL5	OMIM:609056
HP:0001336	Myoclonus	7337	UBE3A	ORPHA:98794
HP:0001336	Myoclonus	4948	OCA2	ORPHA:98794
HP:0001336	Myoclonus	4694	NDUFA1	OMIM:301020
HP:0001336	Myoclonus	3192	HNRNPU	OMIM:617391
HP:0001336	Myoclonus	27235	COQ2	OMIM:607426
HP:0001336	Myoclonus	25915	NDUFAF3	OMIM:618240
HP:0001336	Myoclonus	23732	FRRS1L	OMIM:616981
HP:0001336	Myoclonus	55572	FOXRED1	OMIM:618241
HP:0001336	Myoclonus	3746	KCNC1	OMIM:616187
HP:0001336	Myoclonus	3119	HLA-DQB1	OMIM:123400
HP:0001336	Myoclonus	8604	SLC25A12	OMIM:612949
HP:0001336	Myoclonus	5805	PTS	ORPHA:13
HP:0001336	Myoclonus	23258	DENND5A	OMIM:617281
HP:0001336	Myoclonus	2741	GLRA1	ORPHA:3197
HP:0001336	Myoclonus	2741	GLRA1	OMIM:149400
HP:0001336	Myoclonus	10243	GPHN	ORPHA:3197
HP:0001336	Myoclonus	10243	GPHN	OMIM:149400
HP:0001336	Myoclonus	84896	ATAD1	ORPHA:3197
HP:0001336	Myoclonus	84896	ATAD1	OMIM:618011
HP:0001336	Myoclonus	9757	KMT2B	OMIM:617284
HP:0001336	Myoclonus	51300	TIMMDC1	OMIM:618251
HP:0001336	Myoclonus	8802	SUCLG1	ORPHA:17
HP:0001336	Myoclonus	23152	CIC	OMIM:617600
HP:0001336	Myoclonus	6304	SATB1	OMIM:619229
HP:0001336	Myoclonus	6611	SMS	ORPHA:3063
HP:0001336	Myoclonus	11212	PLPBP	OMIM:617290
HP:0001336	Myoclonus	11019	LIAS	OMIM:614462
HP:0001336	Myoclonus	56978	PRDM8	OMIM:616640
HP:0001336	Myoclonus	56978	PRDM8	ORPHA:324290
HP:0001336	Myoclonus	4361	MRE11	ORPHA:251347
HP:0001336	Myoclonus	6335	SCN9A	ORPHA:33069
HP:0001336	Myoclonus	57526	PCDH19	ORPHA:33069
HP:0001336	Myoclonus	526	ATP6V1B2	ORPHA:79500
HP:0001336	Myoclonus	9829	DNAJC6	ORPHA:391411
HP:0001336	Myoclonus	5420	PODXL	ORPHA:391411
HP:0001336	Myoclonus	56910	STARD7	OMIM:607876
HP:0001336	Myoclonus	151	ADRA2B	ORPHA:86814
HP:0001336	Myoclonus	1501	CTNND2	ORPHA:86814
HP:0001336	Myoclonus	10299	MARCHF6	ORPHA:86814
HP:0001336	Myoclonus	10299	MARCHF6	OMIM:613608
HP:0001336	Myoclonus	401474	SAMD12	ORPHA:86814
HP:0001336	Myoclonus	374354	NHLRC2	OMIM:618278
HP:0001336	Myoclonus	9326	ZNHIT3	OMIM:260565
HP:0001336	Myoclonus	55145	THAP1	OMIM:602629
HP:0001336	Myoclonus	55704	CCDC88A	OMIM:617507
HP:0001336	Myoclonus	1200	TPP1	OMIM:204500
HP:0001336	Myoclonus	6663	SOX10	OMIM:609136
HP:0001336	Myoclonus	2593	GAMT	OMIM:612736
HP:0001336	Myoclonus	60386	SLC25A19	OMIM:607196
HP:0001336	Myoclonus	25978	CHMP2B	OMIM:600795
HP:0001336	Myoclonus	23636	NUP62	ORPHA:225154
HP:0001336	Myoclonus	103	ADAR	ORPHA:225154
HP:0001336	Myoclonus	2898	GRIK2	OMIM:611092
HP:0001336	Myoclonus	777	CACNA1E	OMIM:618285
HP:0001336	Myoclonus	5538	PPT1	OMIM:256730
HP:0001336	Myoclonus	1203	CLN5	OMIM:256731
HP:0001336	Myoclonus	4668	NAGA	OMIM:609241
HP:0001336	Myoclonus	4668	NAGA	ORPHA:79279
HP:0001336	Myoclonus	55005	RMND1	OMIM:614922
HP:0001336	Myoclonus	2581	GALC	ORPHA:206436
HP:0001336	Myoclonus	79583	TMEM231	ORPHA:2752
HP:0001336	Myoclonus	6389	SDHA	OMIM:252011
HP:0001336	Myoclonus	9562	MINPP1	ORPHA:284339
HP:0001336	Myoclonus	5860	QDPR	OMIM:261630
HP:0001336	Myoclonus	1468	SLC25A10	OMIM:618972
HP:0001336	Myoclonus	84274	COQ5	OMIM:619028
HP:0001336	Myoclonus	7305	TYROBP	OMIM:221770
HP:0001336	Myoclonus	79587	CARS2	OMIM:616672
HP:0001336	Myoclonus	9907	AP5Z1	ORPHA:306511
HP:0001336	Myoclonus	9570	GOSR2	OMIM:614018
HP:0001336	Myoclonus	26275	HIBCH	OMIM:250620
HP:0001336	Myoclonus	25828	TXN2	ORPHA:478029
HP:0001336	Myoclonus	4337	MOCS1	OMIM:252150
HP:0001336	Myoclonus	221927	BRAT1	OMIM:614498
HP:0001336	Myoclonus	4338	MOCS2	OMIM:252160
HP:0001336	Myoclonus	2778	GNAS	ORPHA:94089
HP:0001336	Myoclonus	2778	GNAS	ORPHA:79443
HP:0001336	Myoclonus	2778	GNAS	ORPHA:79444
HP:0001336	Myoclonus	8675	STX16	ORPHA:94089
HP:0001336	Myoclonus	4508	MT-ATP6	ORPHA:644
HP:0001336	Myoclonus	6509	SLC1A4	ORPHA:447997
HP:0001336	Myoclonus	114327	EFHC1	OMIM:254770
HP:0001336	Myoclonus	114327	EFHC1	ORPHA:307
HP:0001336	Myoclonus	2563	GABRD	ORPHA:307
HP:0001336	Myoclonus	1181	CLCN2	ORPHA:307
HP:0001336	Myoclonus	22858	CILK1	ORPHA:307
HP:0001336	Myoclonus	785	CACNB4	ORPHA:307
HP:0001336	Myoclonus	785	CACNB4	OMIM:607682
HP:0001336	Myoclonus	144165	PRICKLE1	ORPHA:308
HP:0001336	Myoclonus	1476	CSTB	ORPHA:308
HP:0001336	Myoclonus	950	SCARB2	ORPHA:308
HP:0001336	Myoclonus	1593	CYP27A1	ORPHA:909
HP:0001336	Myoclonus	2670	GFAP	OMIM:203450
HP:0001336	Myoclonus	2670	GFAP	ORPHA:363717
HP:0001336	Myoclonus	2670	GFAP	ORPHA:363722
HP:0001336	Myoclonus	2512	FTL	ORPHA:157846
HP:0001336	Myoclonus	1813	DRD2	ORPHA:36899
HP:0001336	Myoclonus	8910	SGCE	ORPHA:36899
HP:0001336	Myoclonus	79734	KCTD17	ORPHA:36899
HP:0001336	Myoclonus	1861	TOR1A	ORPHA:36899
HP:0001336	Myoclonus	8314	BAP1	ORPHA:2495
HP:0001336	Myoclonus	4771	NF2	ORPHA:2495
HP:0001336	Myoclonus	6598	SMARCB1	ORPHA:2495
HP:0001336	Myoclonus	5155	PDGFB	ORPHA:2495
HP:0001336	Myoclonus	84231	TRAF7	ORPHA:2495
HP:0001336	Myoclonus	6608	SMO	ORPHA:2495
HP:0001336	Myoclonus	207	AKT1	ORPHA:2495
HP:0001336	Myoclonus	5290	PIK3CA	ORPHA:2495
HP:0001336	Myoclonus	7015	TERT	ORPHA:2495
HP:0001336	Myoclonus	51684	SUFU	ORPHA:2495
HP:0001336	Myoclonus	6605	SMARCE1	ORPHA:2495
HP:0001336	Myoclonus	56623	INPP5E	OMIM:213300
HP:0001336	Myoclonus	6095	RORA	OMIM:618060
HP:0001336	Myoclonus	3747	KCNC2	OMIM:619913
HP:0001336	Myoclonus	478	ATP1A3	OMIM:619606
HP:0001336	Myoclonus	427	ASAH1	ORPHA:2590
HP:0001336	Myoclonus	8398	PLA2G6	OMIM:612953
HP:0001336	Myoclonus	6096	RORB	OMIM:618357
HP:0001336	Myoclonus	6529	SLC6A1	OMIM:616421
HP:0001336	Myoclonus	1719	DHFR	OMIM:613839
HP:0001336	Myoclonus	2902	GRIN1	ORPHA:208447
HP:0001336	Myoclonus	10749	KIF1C	ORPHA:397946
HP:0001336	Myoclonus	535	ATP6V0A1	OMIM:619971
HP:0001336	Myoclonus	378884	NHLRC1	ORPHA:501
HP:0001336	Myoclonus	7957	EPM2A	ORPHA:501
HP:0001336	Myoclonus	170302	ARX	OMIM:308350
HP:0001336	Myoclonus	182	JAG1	OMIM:619574
HP:0001336	Myoclonus	27327	TNRC6A	OMIM:618074
HP:0001336	Myoclonus	9693	RAPGEF2	OMIM:618075
HP:0001336	Myoclonus	10715	CERS1	OMIM:616230
HP:0001336	Myoclonus	8996	NOL3	OMIM:614937
HP:0001336	Myoclonus	84823	LMNB2	OMIM:616540
HP:0001336	Myoclonus	5238	PGM3	ORPHA:443811
HP:0001336	Myoclonus	5238	PGM3	OMIM:615816
HP:0001336	Myoclonus	2767	GNA11	ORPHA:428
HP:0001336	Myoclonus	846	CASR	ORPHA:428
HP:0001336	Myoclonus	154881	KCTD7	ORPHA:263516
HP:0001336	Myoclonus	5621	PRNP	ORPHA:356
HP:0001336	Myoclonus	6792	CDKL5	ORPHA:3095
HP:0001336	Myoclonus	22854	NTNG1	ORPHA:3095
HP:0001336	Myoclonus	9568	GABBR2	ORPHA:3095
HP:0001336	Myoclonus	4204	MECP2	ORPHA:3095
HP:0001336	Myoclonus	8243	SMC1A	ORPHA:3095
HP:0001336	Myoclonus	3785	KCNQ2	ORPHA:1949
HP:0001336	Myoclonus	3785	KCNQ2	ORPHA:306
HP:0001336	Myoclonus	3786	KCNQ3	ORPHA:1949
HP:0001336	Myoclonus	3786	KCNQ3	ORPHA:306
HP:0001336	Myoclonus	6513	SLC2A1	ORPHA:64280
HP:0001336	Myoclonus	2562	GABRB3	ORPHA:64280
HP:0001336	Myoclonus	2554	GABRA1	ORPHA:64280
HP:0001336	Myoclonus	8912	CACNA1H	ORPHA:64280
HP:0001336	Myoclonus	8629	JRK	ORPHA:64280
HP:0001336	Myoclonus	2566	GABRG2	ORPHA:64280
HP:0001336	Myoclonus	10935	PRDX3	OMIM:619862
HP:0001336	Myoclonus	215	ABCD1	ORPHA:139396
HP:0001336	Myoclonus	6334	SCN8A	OMIM:618364
HP:0001336	Myoclonus	6334	SCN8A	ORPHA:306
HP:0001336	Myoclonus	10815	CPLX1	ORPHA:352582
HP:0001336	Myoclonus	57465	TBC1D24	ORPHA:352582
HP:0001336	Myoclonus	4137	MAPT	ORPHA:240103
HP:0001336	Myoclonus	6326	SCN2A	ORPHA:306
HP:0001336	Myoclonus	112476	PRRT2	ORPHA:306
HP:0001336	Myoclonus	10528	NOP56	ORPHA:276198
HP:0001339	Lissencephaly	4750	NEK1	OMIM:263520
HP:0001339	Lissencephaly	26128	KIFBP	OMIM:609460
HP:0001339	Lissencephaly	26128	KIFBP	ORPHA:66629
HP:0001339	Lissencephaly	2290	FOXG1	OMIM:613454
HP:0001339	Lissencephaly	23417	MLYCD	OMIM:248360
HP:0001339	Lissencephaly	84942	WDR73	OMIM:251300
HP:0001339	Lissencephaly	84942	WDR73	ORPHA:2065
HP:0001339	Lissencephaly	8496	PPFIBP1	OMIM:620024
HP:0001339	Lissencephaly	50814	NSDHL	ORPHA:251383
HP:0001339	Lissencephaly	50814	NSDHL	OMIM:300831
HP:0001339	Lissencephaly	80232	WDR26	ORPHA:513456
HP:0001339	Lissencephaly	9342	SNAP29	ORPHA:66631
HP:0001339	Lissencephaly	9342	SNAP29	OMIM:609528
HP:0001339	Lissencephaly	5290	PIK3CA	ORPHA:99802
HP:0001339	Lissencephaly	2475	MTOR	ORPHA:99802
HP:0001339	Lissencephaly	10000	AKT3	ORPHA:99802
HP:0001339	Lissencephaly	4784	NFIX	OMIM:602535
HP:0001339	Lissencephaly	4001	LMNB1	OMIM:619179
HP:0001339	Lissencephaly	56915	EXOSC5	OMIM:619576
HP:0001339	Lissencephaly	23522	KAT6B	OMIM:606170
HP:0001339	Lissencephaly	1778	DYNC1H1	OMIM:614563
HP:0001339	Lissencephaly	7436	VLDLR	OMIM:224050
HP:0001339	Lissencephaly	10716	TBR1	OMIM:606053
HP:0001339	Lissencephaly	9896	FIG4	ORPHA:3472
HP:0001339	Lissencephaly	9896	FIG4	OMIM:216340
HP:0001339	Lissencephaly	55697	VAC14	ORPHA:3472
HP:0001339	Lissencephaly	79600	TCTN1	OMIM:614173
HP:0001339	Lissencephaly	545	ATR	OMIM:210600
HP:0001339	Lissencephaly	2313	FLI1	ORPHA:2308
HP:0001339	Lissencephaly	81689	ISCA1	OMIM:617613
HP:0001339	Lissencephaly	9508	ADAMTS3	ORPHA:2136
HP:0001339	Lissencephaly	147372	CCBE1	ORPHA:2136
HP:0001339	Lissencephaly	147372	CCBE1	OMIM:235510
HP:0001339	Lissencephaly	51002	TPRKB	OMIM:617731
HP:0001339	Lissencephaly	51002	TPRKB	ORPHA:2065
HP:0001339	Lissencephaly	57514	ARHGAP31	OMIM:100300
HP:0001339	Lissencephaly	5828	PEX2	OMIM:614866
HP:0001339	Lissencephaly	1457	CSNK2A1	OMIM:617062
HP:0001339	Lissencephaly	5162	PDHB	ORPHA:255138
HP:0001339	Lissencephaly	9326	ZNHIT3	OMIM:260565
HP:0001339	Lissencephaly	5192	PEX10	OMIM:614870
HP:0001339	Lissencephaly	84340	GFM2	OMIM:618397
HP:0001339	Lissencephaly	10319	LAMC3	OMIM:614115
HP:0001339	Lissencephaly	79867	TCTN2	OMIM:616654
HP:0001339	Lissencephaly	5591	PRKDC	OMIM:615966
HP:0001339	Lissencephaly	5296	PIK3R2	OMIM:603387
HP:0001339	Lissencephaly	4677	NARS1	OMIM:619091
HP:0001339	Lissencephaly	10463	SLC30A9	OMIM:617595
HP:0001339	Lissencephaly	23219	FBXO28	OMIM:619777
HP:0001339	Lissencephaly	55005	RMND1	OMIM:614922
HP:0001339	Lissencephaly	1376	CPT2	ORPHA:228308
HP:0001339	Lissencephaly	79087	ALG12	ORPHA:79324
HP:0001339	Lissencephaly	9276	COPB2	ORPHA:2512
HP:0001339	Lissencephaly	22995	CEP152	ORPHA:2512
HP:0001339	Lissencephaly	55262	TRAPPC14	ORPHA:2512
HP:0001339	Lissencephaly	163786	SASS6	ORPHA:2512
HP:0001339	Lissencephaly	29920	PYCR2	ORPHA:2512
HP:0001339	Lissencephaly	84879	MFSD2A	ORPHA:2512
HP:0001339	Lissencephaly	4176	MCM7	ORPHA:2512
HP:0001339	Lissencephaly	80254	CEP63	ORPHA:2512
HP:0001339	Lissencephaly	29081	METTL5	ORPHA:2512
HP:0001339	Lissencephaly	23310	NCAPD3	ORPHA:2512
HP:0001339	Lissencephaly	55755	CDK5RAP2	ORPHA:2512
HP:0001339	Lissencephaly	79648	MCPH1	ORPHA:2512
HP:0001339	Lissencephaly	6491	STIL	ORPHA:2512
HP:0001339	Lissencephaly	23141	ANKLE2	ORPHA:2512
HP:0001339	Lissencephaly	259266	ASPM	ORPHA:2512
HP:0001339	Lissencephaly	7109	TRAPPC10	ORPHA:2512
HP:0001339	Lissencephaly	1911	PHC1	ORPHA:2512
HP:0001339	Lissencephaly	6884	TAF13	ORPHA:2512
HP:0001339	Lissencephaly	9662	CEP135	ORPHA:2512
HP:0001339	Lissencephaly	55835	CENPJ	ORPHA:2512
HP:0001339	Lissencephaly	57082	KNL1	ORPHA:2512
HP:0001339	Lissencephaly	1021	CDK6	ORPHA:2512
HP:0001339	Lissencephaly	84978	FRMD5	OMIM:620094
HP:0001339	Lissencephaly	1496	CTNNA2	OMIM:618174
HP:0001339	Lissencephaly	85378	TUBGCP6	OMIM:251270
HP:0001339	Lissencephaly	57122	NUP107	ORPHA:2065
HP:0001339	Lissencephaly	10785	WDR4	ORPHA:2065
HP:0001339	Lissencephaly	55746	NUP133	ORPHA:2065
HP:0001339	Lissencephaly	112858	TP53RK	ORPHA:2065
HP:0001339	Lissencephaly	8270	LAGE3	ORPHA:2065
HP:0001339	Lissencephaly	6792	CDKL5	ORPHA:1934
HP:0001339	Lissencephaly	3736	KCNA1	ORPHA:1934
HP:0001339	Lissencephaly	9091	PIGQ	ORPHA:1934
HP:0001339	Lissencephaly	2775	GNAO1	ORPHA:1934
HP:0001339	Lissencephaly	81603	TRIM8	ORPHA:1934
HP:0001339	Lissencephaly	2902	GRIN1	ORPHA:1934
HP:0001339	Lissencephaly	79751	SLC25A22	ORPHA:1934
HP:0001339	Lissencephaly	150094	SIK1	ORPHA:1934
HP:0001339	Lissencephaly	8573	CASK	ORPHA:1934
HP:0001339	Lissencephaly	23312	DMXL2	ORPHA:1934
HP:0001339	Lissencephaly	2917	GRM7	ORPHA:1934
HP:0001339	Lissencephaly	11284	PNKP	ORPHA:1934
HP:0001339	Lissencephaly	6326	SCN2A	ORPHA:1934
HP:0001339	Lissencephaly	51227	PIGP	ORPHA:1934
HP:0001339	Lissencephaly	6324	SCN1B	ORPHA:1934
HP:0001339	Lissencephaly	4761	NEUROD2	ORPHA:1934
HP:0001339	Lissencephaly	2108	ETFA	OMIM:231680
HP:0001339	Lissencephaly	2109	ETFB	OMIM:231680
HP:0001339	Lissencephaly	2110	ETFDH	OMIM:231680
HP:0001339	Lissencephaly	60	ACTB	OMIM:243310
HP:0001339	Lissencephaly	60	ACTB	ORPHA:2995
HP:0001339	Lissencephaly	71	ACTG1	OMIM:614583
HP:0001339	Lissencephaly	71	ACTG1	ORPHA:2995
HP:0001339	Lissencephaly	348180	CTU2	OMIM:618142
HP:0001339	Lissencephaly	25914	RTTN	ORPHA:468631
HP:0001339	Lissencephaly	25914	RTTN	OMIM:614833
HP:0001339	Lissencephaly	1718	DHCR24	ORPHA:35107
HP:0001339	Lissencephaly	84162	BLTP1	OMIM:617822
HP:0001339	Lissencephaly	55704	CCDC88A	OMIM:617507
HP:0001339	Lissencephaly	10297	APC2	OMIM:618677
HP:0001339	Lissencephaly	100506658	OCLN	OMIM:251290
HP:0001339	Lissencephaly	388015	RTL1	ORPHA:96334
HP:0001339	Lissencephaly	8788	DLK1	ORPHA:96334
HP:0001339	Lissencephaly	55384	MEG3	ORPHA:96334
HP:0001339	Lissencephaly	3908	LAMA2	ORPHA:258
HP:0001339	Lissencephaly	1282	COL4A1	ORPHA:899
HP:0001339	Lissencephaly	79068	FTO	OMIM:612938
HP:0001339	Lissencephaly	2271	FH	OMIM:606812
HP:0001339	Lissencephaly	284403	WDR62	OMIM:604317
HP:0001339	Lissencephaly	3090	HIC1	ORPHA:531
HP:0001339	Lissencephaly	7531	YWHAE	ORPHA:531
HP:0001339	Lissencephaly	170302	ARX	OMIM:300215
HP:0001339	Lissencephaly	23545	ATP6V0A2	ORPHA:357074
HP:0001339	Lissencephaly	523	ATP6V1A	ORPHA:357074
HP:0001339	Lissencephaly	529	ATP6V1E1	ORPHA:357074
HP:0001339	Lissencephaly	5194	PEX13	OMIM:614883
HP:0001339	Lissencephaly	23499	MACF1	OMIM:618325
HP:0001339	Lissencephaly	8777	MPDZ	OMIM:615219
HP:0001339	Lissencephaly	412	STS	ORPHA:281090
HP:0001339	Lissencephaly	22930	RAB3GAP1	ORPHA:2510
HP:0001339	Lissencephaly	25782	RAB3GAP2	ORPHA:2510
HP:0001339	Lissencephaly	22931	RAB18	ORPHA:2510
HP:0001339	Lissencephaly	128637	TBC1D20	ORPHA:2510
HP:0001339	Lissencephaly	29968	PSAT1	ORPHA:284417
HP:0001339	Lissencephaly	29968	PSAT1	OMIM:616038
HP:0001339	Lissencephaly	26276	VPS33B	OMIM:208085
HP:0001339	Lissencephaly	7161	TP73	OMIM:619466
HP:0001339	Lissencephaly	51075	TMX2	OMIM:618730
HP:0001339	Lissencephaly	8738	CRADD	OMIM:614499
HP:0001339	Lissencephaly	55367	PIDD1	OMIM:619827
HP:0001339	Lissencephaly	63894	VIPAS39	OMIM:613404
HP:0001339	Lissencephaly	55644	OSGEP	OMIM:617729
HP:0001339	Lissencephaly	60386	SLC25A19	ORPHA:99742
HP:0001339	Lissencephaly	26227	PHGDH	OMIM:256520
HP:0001339	Lissencephaly	5649	RELN	ORPHA:89844
HP:0001339	Lissencephaly	5649	RELN	OMIM:257320
HP:0001339	Lissencephaly	10300	KATNB1	ORPHA:89844
HP:0001339	Lissencephaly	54820	NDE1	ORPHA:89844
HP:0001339	Lissencephaly	2879	GPX4	OMIM:250220
HP:0001339	Lissencephaly	29925	GMPPB	ORPHA:370959
HP:0001339	Lissencephaly	55624	POMGNT1	ORPHA:370959
HP:0001339	Lissencephaly	55624	POMGNT1	OMIM:253280
HP:0001339	Lissencephaly	148789	B3GALNT2	OMIM:615181
HP:0001339	Lissencephaly	10329	RXYLT1	OMIM:615041
HP:0001339	Lissencephaly	11041	B4GAT1	OMIM:615287
HP:0001339	Lissencephaly	84892	POMGNT2	OMIM:614830
HP:0001339	Lissencephaly	9289	ADGRG1	ORPHA:98889
HP:0001339	Lissencephaly	5297	PI4KA	ORPHA:98889
HP:0001339	Lissencephaly	27286	SRPX2	ORPHA:98889
HP:0001339	Lissencephaly	5048	PAFAH1B1	ORPHA:95232
HP:0001339	Lissencephaly	7846	TUBA1A	ORPHA:171680
HP:0001339	Lissencephaly	7846	TUBA1A	ORPHA:467166
HP:0001339	Lissencephaly	7846	TUBA1A	OMIM:611603
HP:0001339	Lissencephaly	347733	TUBB2B	ORPHA:467166
HP:0001339	Lissencephaly	10381	TUBB3	ORPHA:467166
HP:0001339	Lissencephaly	1641	DCX	OMIM:300067
HP:0001339	Lissencephaly	1641	DCX	ORPHA:2148
HP:0001339	Lissencephaly	387119	CEP85L	OMIM:618873
HP:0001339	Lissencephaly	1020	CDK5	OMIM:616342
HP:0001339	Lissencephaly	160418	TMTC3	OMIM:617255
HP:0001339	Lissencephaly	79147	FKRP	OMIM:613153
HP:0001339	Lissencephaly	79147	FKRP	OMIM:236670
HP:0001339	Lissencephaly	729920	CRPPA	OMIM:614643
HP:0001339	Lissencephaly	1605	DAG1	OMIM:616538
HP:0001339	Lissencephaly	1605	DAG1	ORPHA:370997
HP:0001339	Lissencephaly	84197	POMK	OMIM:615249
HP:0001339	Lissencephaly	2218	FKTN	OMIM:253800
HP:0001339	Lissencephaly	2218	FKTN	OMIM:236670
HP:0001339	Lissencephaly	29954	POMT2	OMIM:236670
HP:0001339	Lissencephaly	9215	LARGE1	OMIM:236670
HP:0001339	Lissencephaly	10585	POMT1	OMIM:236670
HP:0001339	Lissencephaly	7283	TUBG1	OMIM:615412
HP:0001339	Lissencephaly	10844	TUBGCP2	OMIM:618737
HP:0001339	Lissencephaly	3796	KIF2A	OMIM:615411
HP:0001339	Lissencephaly	3912	LAMB1	OMIM:615191
HP:0001339	Lissencephaly	79633	FAT4	OMIM:615546
HP:0001339	Lissencephaly	8642	DCHS1	OMIM:601390
HP:0001339	Lissencephaly	2009	EML1	OMIM:600348
HP:0001339	Lissencephaly	203068	TUBB	OMIM:615771
HP:0001339	Lissencephaly	11113	CIT	OMIM:617090
HP:0001339	Lissencephaly	100151683	RNU4ATAC	OMIM:210710
HP:0001339	Lissencephaly	9928	KIF14	OMIM:617914
HP:0002538	Abnormal cerebral cortex morphology	26128	KIFBP	OMIM:609460
HP:0002538	Abnormal cerebral cortex morphology	26128	KIFBP	ORPHA:66629
HP:0002538	Abnormal cerebral cortex morphology	2290	FOXG1	OMIM:613454
HP:0002538	Abnormal cerebral cortex morphology	23417	MLYCD	OMIM:248360
HP:0002538	Abnormal cerebral cortex morphology	84942	WDR73	OMIM:251300
HP:0002538	Abnormal cerebral cortex morphology	84942	WDR73	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	80232	WDR26	ORPHA:513456
HP:0002538	Abnormal cerebral cortex morphology	4784	NFIX	OMIM:602535
HP:0002538	Abnormal cerebral cortex morphology	4001	LMNB1	OMIM:619179
HP:0002538	Abnormal cerebral cortex morphology	23522	KAT6B	OMIM:606170
HP:0002538	Abnormal cerebral cortex morphology	7436	VLDLR	OMIM:224050
HP:0002538	Abnormal cerebral cortex morphology	10716	TBR1	OMIM:606053
HP:0002538	Abnormal cerebral cortex morphology	55697	VAC14	ORPHA:3472
HP:0002538	Abnormal cerebral cortex morphology	79600	TCTN1	OMIM:614173
HP:0002538	Abnormal cerebral cortex morphology	545	ATR	OMIM:210600
HP:0002538	Abnormal cerebral cortex morphology	2313	FLI1	ORPHA:2308
HP:0002538	Abnormal cerebral cortex morphology	81689	ISCA1	OMIM:617613
HP:0002538	Abnormal cerebral cortex morphology	9508	ADAMTS3	ORPHA:2136
HP:0002538	Abnormal cerebral cortex morphology	147372	CCBE1	ORPHA:2136
HP:0002538	Abnormal cerebral cortex morphology	147372	CCBE1	OMIM:235510
HP:0002538	Abnormal cerebral cortex morphology	51002	TPRKB	OMIM:617731
HP:0002538	Abnormal cerebral cortex morphology	51002	TPRKB	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	5828	PEX2	OMIM:614866
HP:0002538	Abnormal cerebral cortex morphology	1457	CSNK2A1	OMIM:617062
HP:0002538	Abnormal cerebral cortex morphology	5162	PDHB	ORPHA:255138
HP:0002538	Abnormal cerebral cortex morphology	5192	PEX10	OMIM:614870
HP:0002538	Abnormal cerebral cortex morphology	84340	GFM2	OMIM:618397
HP:0002538	Abnormal cerebral cortex morphology	10319	LAMC3	OMIM:614115
HP:0002538	Abnormal cerebral cortex morphology	79867	TCTN2	OMIM:616654
HP:0002538	Abnormal cerebral cortex morphology	5591	PRKDC	OMIM:615966
HP:0002538	Abnormal cerebral cortex morphology	5296	PIK3R2	OMIM:603387
HP:0002538	Abnormal cerebral cortex morphology	4677	NARS1	OMIM:619091
HP:0002538	Abnormal cerebral cortex morphology	10463	SLC30A9	OMIM:617595
HP:0002538	Abnormal cerebral cortex morphology	23219	FBXO28	OMIM:619777
HP:0002538	Abnormal cerebral cortex morphology	1376	CPT2	ORPHA:228308
HP:0002538	Abnormal cerebral cortex morphology	79087	ALG12	ORPHA:79324
HP:0002538	Abnormal cerebral cortex morphology	55262	TRAPPC14	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	163786	SASS6	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	84879	MFSD2A	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	4176	MCM7	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	80254	CEP63	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	29081	METTL5	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	23310	NCAPD3	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	23141	ANKLE2	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	7109	TRAPPC10	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	1911	PHC1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	6884	TAF13	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	9662	CEP135	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	57082	KNL1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	1021	CDK6	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	84978	FRMD5	OMIM:620094
HP:0002538	Abnormal cerebral cortex morphology	1496	CTNNA2	OMIM:618174
HP:0002538	Abnormal cerebral cortex morphology	57122	NUP107	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	10785	WDR4	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	112858	TP53RK	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	8270	LAGE3	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	6792	CDKL5	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	3736	KCNA1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	9091	PIGQ	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	2775	GNAO1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	79751	SLC25A22	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	150094	SIK1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	23312	DMXL2	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	11284	PNKP	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	51227	PIGP	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	4761	NEUROD2	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	2108	ETFA	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	2109	ETFB	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	2110	ETFDH	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	60	ACTB	OMIM:243310
HP:0002538	Abnormal cerebral cortex morphology	60	ACTB	ORPHA:2995
HP:0002538	Abnormal cerebral cortex morphology	71	ACTG1	OMIM:614583
HP:0002538	Abnormal cerebral cortex morphology	71	ACTG1	ORPHA:2995
HP:0002538	Abnormal cerebral cortex morphology	348180	CTU2	OMIM:618142
HP:0002538	Abnormal cerebral cortex morphology	84162	BLTP1	OMIM:617822
HP:0002538	Abnormal cerebral cortex morphology	55704	CCDC88A	OMIM:617507
HP:0002538	Abnormal cerebral cortex morphology	10297	APC2	OMIM:618677
HP:0002538	Abnormal cerebral cortex morphology	100506658	OCLN	OMIM:251290
HP:0002538	Abnormal cerebral cortex morphology	388015	RTL1	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	8788	DLK1	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	55384	MEG3	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	79068	FTO	OMIM:612938
HP:0002538	Abnormal cerebral cortex morphology	2271	FH	OMIM:606812
HP:0002538	Abnormal cerebral cortex morphology	284403	WDR62	OMIM:604317
HP:0002538	Abnormal cerebral cortex morphology	3090	HIC1	ORPHA:531
HP:0002538	Abnormal cerebral cortex morphology	7531	YWHAE	ORPHA:531
HP:0002538	Abnormal cerebral cortex morphology	170302	ARX	OMIM:300215
HP:0002538	Abnormal cerebral cortex morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	523	ATP6V1A	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	529	ATP6V1E1	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	1020	CDK5	OMIM:616342
HP:0002538	Abnormal cerebral cortex morphology	5194	PEX13	OMIM:614883
HP:0002538	Abnormal cerebral cortex morphology	23499	MACF1	OMIM:618325
HP:0002538	Abnormal cerebral cortex morphology	8777	MPDZ	OMIM:615219
HP:0002538	Abnormal cerebral cortex morphology	412	STS	ORPHA:281090
HP:0002538	Abnormal cerebral cortex morphology	22930	RAB3GAP1	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	25782	RAB3GAP2	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	22931	RAB18	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	128637	TBC1D20	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	29968	PSAT1	ORPHA:284417
HP:0002538	Abnormal cerebral cortex morphology	29968	PSAT1	OMIM:616038
HP:0002538	Abnormal cerebral cortex morphology	1641	DCX	OMIM:300067
HP:0002538	Abnormal cerebral cortex morphology	26276	VPS33B	OMIM:208085
HP:0002538	Abnormal cerebral cortex morphology	7161	TP73	OMIM:619466
HP:0002538	Abnormal cerebral cortex morphology	51075	TMX2	OMIM:618730
HP:0002538	Abnormal cerebral cortex morphology	8738	CRADD	OMIM:614499
HP:0002538	Abnormal cerebral cortex morphology	55367	PIDD1	OMIM:619827
HP:0002538	Abnormal cerebral cortex morphology	63894	VIPAS39	OMIM:613404
HP:0002538	Abnormal cerebral cortex morphology	55644	OSGEP	OMIM:617729
HP:0002538	Abnormal cerebral cortex morphology	60386	SLC25A19	ORPHA:99742
HP:0002538	Abnormal cerebral cortex morphology	25792	CIZ1	ORPHA:420492
HP:0002538	Abnormal cerebral cortex morphology	4702	NDUFA8	OMIM:619272
HP:0002538	Abnormal cerebral cortex morphology	773	CACNA1A	OMIM:183086
HP:0002538	Abnormal cerebral cortex morphology	1183	CLCN4	OMIM:300114
HP:0002538	Abnormal cerebral cortex morphology	1183	CLCN4	ORPHA:485350
HP:0002538	Abnormal cerebral cortex morphology	5393	EXOSC9	OMIM:618065
HP:0002538	Abnormal cerebral cortex morphology	5393	EXOSC9	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	23556	PIGN	ORPHA:2059
HP:0002538	Abnormal cerebral cortex morphology	673	BRAF	OMIM:115150
HP:0002538	Abnormal cerebral cortex morphology	673	BRAF	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	7360	UGP2	OMIM:618744
HP:0002538	Abnormal cerebral cortex morphology	145173	B3GLCT	ORPHA:709
HP:0002538	Abnormal cerebral cortex morphology	10667	FARS2	OMIM:614946
HP:0002538	Abnormal cerebral cortex morphology	23126	POGZ	ORPHA:468678
HP:0002538	Abnormal cerebral cortex morphology	5521	PPP2R2B	OMIM:604326
HP:0002538	Abnormal cerebral cortex morphology	6687	SPG7	ORPHA:99013
HP:0002538	Abnormal cerebral cortex morphology	6687	SPG7	OMIM:607259
HP:0002538	Abnormal cerebral cortex morphology	4552	MTRR	OMIM:236270
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	ORPHA:309282
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	ORPHA:309288
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	OMIM:248500
HP:0002538	Abnormal cerebral cortex morphology	51112	TRAPPC12	ORPHA:500144
HP:0002538	Abnormal cerebral cortex morphology	51112	TRAPPC12	OMIM:617669
HP:0002538	Abnormal cerebral cortex morphology	54968	TMEM70	ORPHA:1194
HP:0002538	Abnormal cerebral cortex morphology	3020	H3-3A	OMIM:619720
HP:0002538	Abnormal cerebral cortex morphology	8722	CTSF	OMIM:615362
HP:0002538	Abnormal cerebral cortex morphology	387787	LIPT2	OMIM:617668
HP:0002538	Abnormal cerebral cortex morphology	84520	GON7	OMIM:619603
HP:0002538	Abnormal cerebral cortex morphology	23431	AP4E1	OMIM:613744
HP:0002538	Abnormal cerebral cortex morphology	23431	AP4E1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	57582	KCNT1	OMIM:614959
HP:0002538	Abnormal cerebral cortex morphology	79158	GNPTAB	OMIM:252500
HP:0002538	Abnormal cerebral cortex morphology	271	AMPD2	OMIM:615809
HP:0002538	Abnormal cerebral cortex morphology	5189	PEX1	OMIM:214100
HP:0002538	Abnormal cerebral cortex morphology	55650	PIGV	OMIM:239300
HP:0002538	Abnormal cerebral cortex morphology	2192	FBLN1	ORPHA:404451
HP:0002538	Abnormal cerebral cortex morphology	348	APOE	OMIM:607822
HP:0002538	Abnormal cerebral cortex morphology	51360	MBTPS2	ORPHA:2273
HP:0002538	Abnormal cerebral cortex morphology	3074	HEXB	ORPHA:309155
HP:0002538	Abnormal cerebral cortex morphology	10134	BCAP31	ORPHA:369939
HP:0002538	Abnormal cerebral cortex morphology	5832	ALDH18A1	OMIM:616586
HP:0002538	Abnormal cerebral cortex morphology	5832	ALDH18A1	ORPHA:447760
HP:0002538	Abnormal cerebral cortex morphology	7343	UBTF	OMIM:617672
HP:0002538	Abnormal cerebral cortex morphology	91869	RFT1	ORPHA:244310
HP:0002538	Abnormal cerebral cortex morphology	9326	ZNHIT3	ORPHA:2836
HP:0002538	Abnormal cerebral cortex morphology	547	KIF1A	ORPHA:2836
HP:0002538	Abnormal cerebral cortex morphology	3845	KRAS	ORPHA:2396
HP:0002538	Abnormal cerebral cortex morphology	3845	KRAS	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	2018	EMX2	OMIM:269160
HP:0002538	Abnormal cerebral cortex morphology	6496	SIX3	OMIM:269160
HP:0002538	Abnormal cerebral cortex morphology	6469	SHH	OMIM:269160
HP:0002538	Abnormal cerebral cortex morphology	546	ATRX	ORPHA:847
HP:0002538	Abnormal cerebral cortex morphology	5191	PEX7	OMIM:215100
HP:0002538	Abnormal cerebral cortex morphology	83480	PUS3	ORPHA:488627
HP:0002538	Abnormal cerebral cortex morphology	2332	FMR1	ORPHA:93256
HP:0002538	Abnormal cerebral cortex morphology	2332	FMR1	ORPHA:908
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	ORPHA:513436
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	ORPHA:306674
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	OMIM:617225
HP:0002538	Abnormal cerebral cortex morphology	652	BMP4	OMIM:607932
HP:0002538	Abnormal cerebral cortex morphology	57231	SNX14	OMIM:616354
HP:0002538	Abnormal cerebral cortex morphology	132158	GLYCTK	OMIM:220120
HP:0002538	Abnormal cerebral cortex morphology	10347	ABCA7	OMIM:608907
HP:0002538	Abnormal cerebral cortex morphology	10347	ABCA7	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	246243	RNASEH1	OMIM:616479
HP:0002538	Abnormal cerebral cortex morphology	80208	SPG11	ORPHA:2822
HP:0002538	Abnormal cerebral cortex morphology	80208	SPG11	OMIM:604360
HP:0002538	Abnormal cerebral cortex morphology	51761	ATP8A2	OMIM:615268
HP:0002538	Abnormal cerebral cortex morphology	23230	VPS13A	ORPHA:2388
HP:0002538	Abnormal cerebral cortex morphology	4582	MUC1	OMIM:174000
HP:0002538	Abnormal cerebral cortex morphology	9487	PIGL	ORPHA:3474
HP:0002538	Abnormal cerebral cortex morphology	57338	JPH3	ORPHA:98934
HP:0002538	Abnormal cerebral cortex morphology	57338	JPH3	OMIM:606438
HP:0002538	Abnormal cerebral cortex morphology	23265	EXOC7	OMIM:619072
HP:0002538	Abnormal cerebral cortex morphology	699	BUB1	OMIM:620183
HP:0002538	Abnormal cerebral cortex morphology	1798	DPAGT1	ORPHA:86309
HP:0002538	Abnormal cerebral cortex morphology	3028	HSD17B10	OMIM:300438
HP:0002538	Abnormal cerebral cortex morphology	55699	IARS2	OMIM:616007
HP:0002538	Abnormal cerebral cortex morphology	54902	TTC19	OMIM:615157
HP:0002538	Abnormal cerebral cortex morphology	6804	STX1A	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	7461	CLIP2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	84277	DNAJC30	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	8468	FKBP6	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	5982	RFC2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	2969	GTF2I	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	3984	LIMK1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	9569	GTF2IRD1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	155382	VPS37D	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	155368	METTL27	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	114049	BUD23	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	7458	EIF4H	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	84163	GTF2IRD2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	9275	BCL7B	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	26608	TBL2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	653361	NCF1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	135886	TMEM270	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	51085	MLXIPL	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	9031	BAZ1B	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	2006	ELN	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	11340	EXOSC8	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	11340	EXOSC8	OMIM:616081
HP:0002538	Abnormal cerebral cortex morphology	23287	AGTPBP1	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	51010	EXOSC3	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	7443	VRK1	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	7443	VRK1	OMIM:607596
HP:0002538	Abnormal cerebral cortex morphology	91137	SLC25A46	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	4191	MDH2	OMIM:617339
HP:0002538	Abnormal cerebral cortex morphology	5590	PRKCZ	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	23013	SPEN	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	8510	MMP23B	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	7798	LUZP1	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	6497	SKI	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	10630	PDPN	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	3339	HSPG2	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	10277	UBE4B	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	8514	KCNAB2	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	473	RERE	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	63976	PRDM16	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	54897	CASZ1	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	493856	CISD2	ORPHA:3463
HP:0002538	Abnormal cerebral cortex morphology	7466	WFS1	ORPHA:3463
HP:0002538	Abnormal cerebral cortex morphology	7337	UBE3A	OMIM:105830
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	ORPHA:464311
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	ORPHA:268261
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	OMIM:614104
HP:0002538	Abnormal cerebral cortex morphology	11128	POLR3A	ORPHA:447896
HP:0002538	Abnormal cerebral cortex morphology	11128	POLR3A	OMIM:607694
HP:0002538	Abnormal cerebral cortex morphology	55343	SLC35C1	OMIM:266265
HP:0002538	Abnormal cerebral cortex morphology	8517	IKBKG	ORPHA:464
HP:0002538	Abnormal cerebral cortex morphology	4644	MYO5A	ORPHA:33445
HP:0002538	Abnormal cerebral cortex morphology	51633	OTUD6B	ORPHA:505237
HP:0002538	Abnormal cerebral cortex morphology	4094	MAF	ORPHA:1272
HP:0002538	Abnormal cerebral cortex morphology	56098	PCDHGC4	OMIM:619880
HP:0002538	Abnormal cerebral cortex morphology	25973	PARS2	OMIM:618437
HP:0002538	Abnormal cerebral cortex morphology	54499	TMCO1	ORPHA:1394
HP:0002538	Abnormal cerebral cortex morphology	9562	MINPP1	OMIM:619527
HP:0002538	Abnormal cerebral cortex morphology	2558	GABRA5	OMIM:618559
HP:0002538	Abnormal cerebral cortex morphology	56652	TWNK	OMIM:271245
HP:0002538	Abnormal cerebral cortex morphology	8573	CASK	ORPHA:163937
HP:0002538	Abnormal cerebral cortex morphology	22906	TRAK1	OMIM:618201
HP:0002538	Abnormal cerebral cortex morphology	54941	RNF125	OMIM:616260
HP:0002538	Abnormal cerebral cortex morphology	5664	PSEN2	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	10452	TOMM40	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	351	APP	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	6653	SORL1	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	64116	SLC39A8	ORPHA:468699
HP:0002538	Abnormal cerebral cortex morphology	404672	GTF2H5	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	833	CARS1	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	7737	RNF113A	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	136647	MPLKIP	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	136647	MPLKIP	OMIM:234050
HP:0002538	Abnormal cerebral cortex morphology	6897	TARS1	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2071	ERCC3	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2071	ERCC3	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2961	GTF2E2	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	51750	RTEL1	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	65057	ACD	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	5073	PARN	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	7015	TERT	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	26277	TINF2	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	1736	DKC1	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	79053	ALG8	ORPHA:79325
HP:0002538	Abnormal cerebral cortex morphology	2776	GNAQ	ORPHA:3205
HP:0002538	Abnormal cerebral cortex morphology	2776	GNAQ	OMIM:185300
HP:0002538	Abnormal cerebral cortex morphology	8295	TRRAP	OMIM:618454
HP:0002538	Abnormal cerebral cortex morphology	58497	PRUNE1	OMIM:617481
HP:0002538	Abnormal cerebral cortex morphology	2583	B4GALNT1	OMIM:609195
HP:0002538	Abnormal cerebral cortex morphology	2583	B4GALNT1	ORPHA:101006
HP:0002538	Abnormal cerebral cortex morphology	11232	POLG2	OMIM:619425
HP:0002538	Abnormal cerebral cortex morphology	7407	VARS1	OMIM:617802
HP:0002538	Abnormal cerebral cortex morphology	57724	EPG5	ORPHA:1493
HP:0002538	Abnormal cerebral cortex morphology	4204	MECP2	OMIM:312750
HP:0002538	Abnormal cerebral cortex morphology	81603	TRIM8	OMIM:619428
HP:0002538	Abnormal cerebral cortex morphology	7507	XPA	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	7508	XPC	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	1643	DDB2	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2072	ERCC4	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2073	ERCC5	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2073	ERCC5	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	55703	POLR3B	OMIM:607694
HP:0002538	Abnormal cerebral cortex morphology	1203	CLN5	ORPHA:228360
HP:0002538	Abnormal cerebral cortex morphology	1203	CLN5	OMIM:256731
HP:0002538	Abnormal cerebral cortex morphology	4558	MT-TF	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4572	MT-TQ	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4512	MT-CO1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4513	MT-CO2	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4514	MT-CO3	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4578	MT-TW	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4540	MT-ND5	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4541	MT-ND6	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4535	MT-ND1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4538	MT-ND4	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4567	MT-TL1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4574	MT-TS1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4575	MT-TS2	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4564	MT-TH	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	27238	GPKOW	ORPHA:2570
HP:0002538	Abnormal cerebral cortex morphology	8925	HERC1	OMIM:617011
HP:0002538	Abnormal cerebral cortex morphology	8925	HERC1	ORPHA:457359
HP:0002538	Abnormal cerebral cortex morphology	92935	MARS2	OMIM:611390
HP:0002538	Abnormal cerebral cortex morphology	92935	MARS2	ORPHA:314603
HP:0002538	Abnormal cerebral cortex morphology	4598	MVK	ORPHA:29
HP:0002538	Abnormal cerebral cortex morphology	54832	VPS13C	OMIM:616840
HP:0002538	Abnormal cerebral cortex morphology	79813	EHMT1	ORPHA:96147
HP:0002538	Abnormal cerebral cortex morphology	57679	ALS2	OMIM:606353
HP:0002538	Abnormal cerebral cortex morphology	27249	MMADHC	OMIM:277410
HP:0002538	Abnormal cerebral cortex morphology	55630	SLC39A4	ORPHA:37
HP:0002538	Abnormal cerebral cortex morphology	2902	GRIN1	OMIM:617820
HP:0002538	Abnormal cerebral cortex morphology	8085	KMT2D	ORPHA:2322
HP:0002538	Abnormal cerebral cortex morphology	7403	KDM6A	ORPHA:2322
HP:0002538	Abnormal cerebral cortex morphology	998	CDC42	OMIM:616737
HP:0002538	Abnormal cerebral cortex morphology	50	ACO2	OMIM:614559
HP:0002538	Abnormal cerebral cortex morphology	10166	SLC25A15	ORPHA:415
HP:0002538	Abnormal cerebral cortex morphology	10166	SLC25A15	OMIM:238970
HP:0002538	Abnormal cerebral cortex morphology	6904	TBCD	ORPHA:496641
HP:0002538	Abnormal cerebral cortex morphology	29925	GMPPB	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	56915	EXOSC5	OMIM:619576
HP:0002538	Abnormal cerebral cortex morphology	23221	RHOBTB2	OMIM:618004
HP:0002538	Abnormal cerebral cortex morphology	8867	SYNJ1	OMIM:615530
HP:0002538	Abnormal cerebral cortex morphology	6928	HNF1B	OMIM:137920
HP:0002538	Abnormal cerebral cortex morphology	2067	ERCC1	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	2074	ERCC6	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	6709	SPTAN1	OMIM:613477
HP:0002538	Abnormal cerebral cortex morphology	54834	GDAP2	OMIM:618369
HP:0002538	Abnormal cerebral cortex morphology	2629	GBA1	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	23317	DNAJC13	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	1981	EIF4G1	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	55737	VPS35	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	120892	LRRK2	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	26058	GIGYF2	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	6622	SNCA	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	5604	MAP2K1	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	5605	MAP2K2	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	51608	GET4	OMIM:620200
HP:0002538	Abnormal cerebral cortex morphology	3265	HRAS	ORPHA:3071
HP:0002538	Abnormal cerebral cortex morphology	9758	FRMPD4	OMIM:300983
HP:0002538	Abnormal cerebral cortex morphology	83696	TRAPPC9	ORPHA:352530
HP:0002538	Abnormal cerebral cortex morphology	26040	SETBP1	ORPHA:798
HP:0002538	Abnormal cerebral cortex morphology	23476	BRD4	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	9126	SMC3	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	8243	SMC1A	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	25836	NIPBL	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	55869	HDAC8	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	5885	RAD21	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	9791	PTDSS1	OMIM:151050
HP:0002538	Abnormal cerebral cortex morphology	7399	USH2A	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	79955	PDZD7	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	4647	MYO7A	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	4647	MYO7A	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	25861	WHRN	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	6197	RPS6KA3	ORPHA:192
HP:0002538	Abnormal cerebral cortex morphology	9150	CTDP1	ORPHA:48431
HP:0002538	Abnormal cerebral cortex morphology	94005	PIGS	OMIM:618143
HP:0002538	Abnormal cerebral cortex morphology	22866	CNKSR2	OMIM:301008
HP:0002538	Abnormal cerebral cortex morphology	10815	CPLX1	OMIM:617976
HP:0002538	Abnormal cerebral cortex morphology	7305	TYROBP	ORPHA:2770
HP:0002538	Abnormal cerebral cortex morphology	8905	AP1S2	ORPHA:1568
HP:0002538	Abnormal cerebral cortex morphology	10283	CWC27	ORPHA:166035
HP:0002538	Abnormal cerebral cortex morphology	80055	PGAP1	ORPHA:401820
HP:0002538	Abnormal cerebral cortex morphology	60558	GUF1	OMIM:617065
HP:0002538	Abnormal cerebral cortex morphology	122553	TRAPPC6B	OMIM:617862
HP:0002538	Abnormal cerebral cortex morphology	2893	GRIA4	OMIM:617864
HP:0002538	Abnormal cerebral cortex morphology	79152	FA2H	ORPHA:171629
HP:0002538	Abnormal cerebral cortex morphology	57038	RARS2	OMIM:611523
HP:0002538	Abnormal cerebral cortex morphology	55164	SHQ1	OMIM:619922
HP:0002538	Abnormal cerebral cortex morphology	57704	GBA2	ORPHA:320391
HP:0002538	Abnormal cerebral cortex morphology	6785	ELOVL4	OMIM:133190
HP:0002538	Abnormal cerebral cortex morphology	10717	AP4B1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	9179	AP4M1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	11154	AP4S1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	95	ACY1	OMIM:609924
HP:0002538	Abnormal cerebral cortex morphology	1716	DGUOK	OMIM:617070
HP:0002538	Abnormal cerebral cortex morphology	340533	NEXMIF	ORPHA:85277
HP:0002538	Abnormal cerebral cortex morphology	29920	PYCR2	OMIM:616420
HP:0002538	Abnormal cerebral cortex morphology	10479	SLC9A6	ORPHA:85278
HP:0002538	Abnormal cerebral cortex morphology	777	CACNA1E	OMIM:618285
HP:0002538	Abnormal cerebral cortex morphology	85378	TUBGCP6	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	27229	TUBGCP4	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	10733	PLK4	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	55005	RMND1	OMIM:614922
HP:0002538	Abnormal cerebral cortex morphology	4693	NDP	ORPHA:649
HP:0002538	Abnormal cerebral cortex morphology	4508	MT-ATP6	ORPHA:644
HP:0002538	Abnormal cerebral cortex morphology	26123	TCTN3	ORPHA:2753
HP:0002538	Abnormal cerebral cortex morphology	2801	GOLGA2	OMIM:620240
HP:0002538	Abnormal cerebral cortex morphology	23299	BICD2	OMIM:618291
HP:0002538	Abnormal cerebral cortex morphology	64072	CDH23	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	10083	USH1C	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	124590	USH1G	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	83715	ESPN	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	10518	CIB2	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	65217	PCDH15	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	116150	NUS1	OMIM:617082
HP:0002538	Abnormal cerebral cortex morphology	23404	EXOSC2	OMIM:617763
HP:0002538	Abnormal cerebral cortex morphology	79587	CARS2	OMIM:616672
HP:0002538	Abnormal cerebral cortex morphology	221692	PHACTR1	OMIM:618298
HP:0002538	Abnormal cerebral cortex morphology	4858	NOVA2	OMIM:618859
HP:0002538	Abnormal cerebral cortex morphology	25974	MMACHC	OMIM:277400
HP:0002538	Abnormal cerebral cortex morphology	5052	PRDX1	OMIM:277400
HP:0002538	Abnormal cerebral cortex morphology	267010	RNU12	ORPHA:512260
HP:0002538	Abnormal cerebral cortex morphology	27183	VPS4A	OMIM:619273
HP:0002538	Abnormal cerebral cortex morphology	9488	PIGB	OMIM:618580
HP:0002538	Abnormal cerebral cortex morphology	29899	GPSM2	OMIM:604213
HP:0002538	Abnormal cerebral cortex morphology	10262	SF3B4	OMIM:154400
HP:0002538	Abnormal cerebral cortex morphology	894	CCND2	ORPHA:83473
HP:0002538	Abnormal cerebral cortex morphology	894	CCND2	OMIM:615938
HP:0002538	Abnormal cerebral cortex morphology	51807	TUBA8	ORPHA:250972
HP:0002538	Abnormal cerebral cortex morphology	6328	SCN3A	OMIM:617938
HP:0002538	Abnormal cerebral cortex morphology	2782	GNB1	ORPHA:488613
HP:0002538	Abnormal cerebral cortex morphology	2782	GNB1	OMIM:616973
HP:0002538	Abnormal cerebral cortex morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	4867	NPHP1	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	65062	TMEM237	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	65062	TMEM237	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	54931	TRMT10C	OMIM:616974
HP:0002538	Abnormal cerebral cortex morphology	79644	SRD5A3	OMIM:612379
HP:0002538	Abnormal cerebral cortex morphology	56623	INPP5E	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	56623	INPP5E	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	153241	CEP120	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	153241	CEP120	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	54903	MKS1	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	54903	MKS1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	95681	CEP41	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	95681	CEP41	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	27185	DISC1	ORPHA:171703
HP:0002538	Abnormal cerebral cortex morphology	8320	EOMES	ORPHA:171703
HP:0002538	Abnormal cerebral cortex morphology	5610	EIF2AK2	OMIM:618877
HP:0002538	Abnormal cerebral cortex morphology	26153	KIF26A	OMIM:620156
HP:0002538	Abnormal cerebral cortex morphology	4131	MAP1B	OMIM:618918
HP:0002538	Abnormal cerebral cortex morphology	9361	LONP1	ORPHA:79243
HP:0002538	Abnormal cerebral cortex morphology	5160	PDHA1	ORPHA:79243
HP:0002538	Abnormal cerebral cortex morphology	80311	KLHL15	OMIM:300982
HP:0002538	Abnormal cerebral cortex morphology	9401	RECQL4	OMIM:218600
HP:0002538	Abnormal cerebral cortex morphology	9839	ZEB2	ORPHA:261552
HP:0002538	Abnormal cerebral cortex morphology	9839	ZEB2	ORPHA:261537
HP:0002538	Abnormal cerebral cortex morphology	4330	MN1	OMIM:618774
HP:0002538	Abnormal cerebral cortex morphology	1822	ATN1	OMIM:618494
HP:0002538	Abnormal cerebral cortex morphology	57572	DOCK6	OMIM:614219
HP:0002538	Abnormal cerebral cortex morphology	65250	CPLANE1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	65250	CPLANE1	OMIM:277170
HP:0002538	Abnormal cerebral cortex morphology	91147	TMEM67	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	200894	ARL13B	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	9731	CEP104	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	23247	KATNIP	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	219854	TMEM218	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80776	B9D2	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	10464	PIBF1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80210	ARMC9	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80210	ARMC9	OMIM:617622
HP:0002538	Abnormal cerebral cortex morphology	23116	TOGARAM1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	25776	CBY1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	27077	B9D1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	403	ARL3	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	23512	SUZ12	OMIM:618786
HP:0002538	Abnormal cerebral cortex morphology	6608	SMO	OMIM:601707
HP:0002538	Abnormal cerebral cortex morphology	4659	PPP1R12A	OMIM:618820
HP:0002538	Abnormal cerebral cortex morphology	526	ATP6V1B2	ORPHA:79500
HP:0002538	Abnormal cerebral cortex morphology	80781	COL18A1	OMIM:267750
HP:0002538	Abnormal cerebral cortex morphology	2222	FDFT1	OMIM:618156
HP:0002538	Abnormal cerebral cortex morphology	55640	FLVCR2	OMIM:225790
HP:0002538	Abnormal cerebral cortex morphology	79143	MBOAT7	OMIM:617188
HP:0002538	Abnormal cerebral cortex morphology	55670	PEX26	OMIM:614872
HP:0002538	Abnormal cerebral cortex morphology	55670	PEX26	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	7284	TUFM	OMIM:610678
HP:0002538	Abnormal cerebral cortex morphology	4123	MAN2C1	OMIM:619775
HP:0002538	Abnormal cerebral cortex morphology	5879	RAC1	OMIM:617751
HP:0002538	Abnormal cerebral cortex morphology	5879	RAC1	ORPHA:500159
HP:0002538	Abnormal cerebral cortex morphology	200205	IBA57	OMIM:615330
HP:0002538	Abnormal cerebral cortex morphology	1284	COL4A2	OMIM:614483
HP:0002538	Abnormal cerebral cortex morphology	5195	PEX14	OMIM:614887
HP:0002538	Abnormal cerebral cortex morphology	5195	PEX14	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8884	SLC5A6	OMIM:618973
HP:0002538	Abnormal cerebral cortex morphology	57647	DHX37	OMIM:618731
HP:0002538	Abnormal cerebral cortex morphology	10243	GPHN	OMIM:615501
HP:0002538	Abnormal cerebral cortex morphology	5824	PEX19	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8504	PEX3	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8799	PEX11B	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	9409	PEX16	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5830	PEX5	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5193	PEX12	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	7490	WT1	OMIM:106210
HP:0002538	Abnormal cerebral cortex morphology	5080	PAX6	OMIM:106210
HP:0002538	Abnormal cerebral cortex morphology	168667	BMPER	OMIM:608022
HP:0002538	Abnormal cerebral cortex morphology	113612	CYP2U1	OMIM:615030
HP:0002538	Abnormal cerebral cortex morphology	9636	ISG15	OMIM:616126
HP:0002538	Abnormal cerebral cortex morphology	2767	GNA11	OMIM:615361
HP:0002538	Abnormal cerebral cortex morphology	2625	GATA3	OMIM:146255
HP:0002538	Abnormal cerebral cortex morphology	10059	DNM1L	ORPHA:98673
HP:0002538	Abnormal cerebral cortex morphology	4976	OPA1	ORPHA:98673
HP:0002538	Abnormal cerebral cortex morphology	90	ACVR1	OMIM:135100
HP:0002538	Abnormal cerebral cortex morphology	63901	FAM111A	OMIM:127000
HP:0002538	Abnormal cerebral cortex morphology	63901	FAM111A	ORPHA:93325
HP:0002538	Abnormal cerebral cortex morphology	116442	RAB39B	OMIM:311510
HP:0002538	Abnormal cerebral cortex morphology	56984	PSMG2	OMIM:619183
HP:0002538	Abnormal cerebral cortex morphology	846	CASR	OMIM:601198
HP:0002538	Abnormal cerebral cortex morphology	5696	PSMB8	OMIM:256040
HP:0002538	Abnormal cerebral cortex morphology	55835	CENPJ	OMIM:608393
HP:0002538	Abnormal cerebral cortex morphology	8621	CDK13	OMIM:617360
HP:0002538	Abnormal cerebral cortex morphology	55755	CDK5RAP2	OMIM:604804
HP:0002538	Abnormal cerebral cortex morphology	6925	TCF4	ORPHA:2896
HP:0002538	Abnormal cerebral cortex morphology	79648	MCPH1	OMIM:251200
HP:0002538	Abnormal cerebral cortex morphology	1497	CTNS	OMIM:219800
HP:0002538	Abnormal cerebral cortex morphology	6309	SC5D	ORPHA:46059
HP:0002538	Abnormal cerebral cortex morphology	4893	NRAS	ORPHA:2612
HP:0002538	Abnormal cerebral cortex morphology	113235	SLC46A1	ORPHA:90045
HP:0002538	Abnormal cerebral cortex morphology	1436	CSF1R	OMIM:618476
HP:0002538	Abnormal cerebral cortex morphology	51741	WWOX	OMIM:616211
HP:0002538	Abnormal cerebral cortex morphology	5155	PDGFB	OMIM:615483
HP:0002538	Abnormal cerebral cortex morphology	5155	PDGFB	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	65082	VPS33A	OMIM:617303
HP:0002538	Abnormal cerebral cortex morphology	65082	VPS33A	ORPHA:505248
HP:0002538	Abnormal cerebral cortex morphology	5053	PAH	OMIM:261600
HP:0002538	Abnormal cerebral cortex morphology	5053	PAH	ORPHA:79254
HP:0002538	Abnormal cerebral cortex morphology	55651	NHP2	OMIM:613987
HP:0002538	Abnormal cerebral cortex morphology	55651	NHP2	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	389827	MYMK	ORPHA:1358
HP:0002538	Abnormal cerebral cortex morphology	101929726	MYMX	ORPHA:1358
HP:0002538	Abnormal cerebral cortex morphology	56975	FAM20C	OMIM:259775
HP:0002538	Abnormal cerebral cortex morphology	79709	COLGALT1	OMIM:618360
HP:0002538	Abnormal cerebral cortex morphology	8671	SLC4A4	OMIM:604278
HP:0002538	Abnormal cerebral cortex morphology	54	ACP5	OMIM:607944
HP:0002538	Abnormal cerebral cortex morphology	54	ACP5	ORPHA:1855
HP:0002538	Abnormal cerebral cortex morphology	889	KRIT1	OMIM:116860
HP:0002538	Abnormal cerebral cortex morphology	103	ADAR	OMIM:615010
HP:0002538	Abnormal cerebral cortex morphology	103	ADAR	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	3394	IRF8	OMIM:226990
HP:0002538	Abnormal cerebral cortex morphology	11274	USP18	OMIM:617397
HP:0002538	Abnormal cerebral cortex morphology	6773	STAT2	OMIM:618886
HP:0002538	Abnormal cerebral cortex morphology	9213	XPR1	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	5159	PDGFRB	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	57462	MYORG	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	6575	SLC20A2	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	58494	JAM2	ORPHA:1980
HP:0002538	Abnormal cerebral cortex morphology	3117	HLA-DQA1	OMIM:212750
HP:0002538	Abnormal cerebral cortex morphology	3119	HLA-DQB1	OMIM:212750
HP:0002538	Abnormal cerebral cortex morphology	2697	GJA1	ORPHA:2710
HP:0002538	Abnormal cerebral cortex morphology	23258	DENND5A	OMIM:617281
HP:0002538	Abnormal cerebral cortex morphology	1280	COL2A1	ORPHA:85198
HP:0002538	Abnormal cerebral cortex morphology	8635	RNASET2	OMIM:612951
HP:0002538	Abnormal cerebral cortex morphology	139285	AMER1	ORPHA:2780
HP:0002538	Abnormal cerebral cortex morphology	760	CA2	ORPHA:2785
HP:0002538	Abnormal cerebral cortex morphology	760	CA2	OMIM:259730
HP:0002538	Abnormal cerebral cortex morphology	1499	CTNNB1	ORPHA:54595
HP:0002538	Abnormal cerebral cortex morphology	1075	CTSC	ORPHA:678
HP:0002538	Abnormal cerebral cortex morphology	4953	ODC1	OMIM:619075
HP:0002538	Abnormal cerebral cortex morphology	538	ATP7A	ORPHA:198
HP:0002538	Abnormal cerebral cortex morphology	5167	ENPP1	ORPHA:51608
HP:0002538	Abnormal cerebral cortex morphology	5167	ENPP1	ORPHA:758
HP:0002538	Abnormal cerebral cortex morphology	5190	PEX6	ORPHA:3220
HP:0002538	Abnormal cerebral cortex morphology	10056	FARSB	OMIM:613658
HP:0002538	Abnormal cerebral cortex morphology	1836	SLC26A2	ORPHA:628
HP:0002538	Abnormal cerebral cortex morphology	26137	ZBTB20	OMIM:259050
HP:0002538	Abnormal cerebral cortex morphology	6628	SNRPB	ORPHA:1393
HP:0002538	Abnormal cerebral cortex morphology	100147744	RNU7-1	OMIM:619487
HP:0002538	Abnormal cerebral cortex morphology	100147744	RNU7-1	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	57169	ZNFX1	OMIM:619644
HP:0002538	Abnormal cerebral cortex morphology	6598	SMARCB1	ORPHA:99966
HP:0002538	Abnormal cerebral cortex morphology	326	AIRE	ORPHA:3453
HP:0002538	Abnormal cerebral cortex morphology	8643	PTCH2	ORPHA:377
HP:0002538	Abnormal cerebral cortex morphology	51684	SUFU	ORPHA:377
HP:0002538	Abnormal cerebral cortex morphology	4256	MGP	OMIM:245150
HP:0002538	Abnormal cerebral cortex morphology	9365	KL	OMIM:617994
HP:0002538	Abnormal cerebral cortex morphology	5741	PTH	OMIM:146200
HP:0002538	Abnormal cerebral cortex morphology	10312	TCIRG1	ORPHA:1782
HP:0002538	Abnormal cerebral cortex morphology	55315	SLC29A3	ORPHA:1782
HP:0002538	Abnormal cerebral cortex morphology	8792	TNFRSF11A	ORPHA:1782
HP:0002538	Abnormal cerebral cortex morphology	2778	GNAS	ORPHA:79443
HP:0002538	Abnormal cerebral cortex morphology	2778	GNAS	ORPHA:79444
HP:0002538	Abnormal cerebral cortex morphology	84153	RNASEH2C	OMIM:610329
HP:0002538	Abnormal cerebral cortex morphology	84153	RNASEH2C	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	11277	TREX1	ORPHA:247691
HP:0002538	Abnormal cerebral cortex morphology	11277	TREX1	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	3735	KARS1	OMIM:619147
HP:0002538	Abnormal cerebral cortex morphology	5860	QDPR	OMIM:261630
HP:0002538	Abnormal cerebral cortex morphology	56160	NSMCE3	OMIM:617241
HP:0002538	Abnormal cerebral cortex morphology	80169	CTC1	OMIM:612199
HP:0002538	Abnormal cerebral cortex morphology	80169	CTC1	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	79650	USB1	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	55135	WRAP53	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	4869	NPM1	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	7012	TERC	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	55505	NOP10	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	7298	TYMS	ORPHA:1775
HP:0002538	Abnormal cerebral cortex morphology	10535	RNASEH2A	OMIM:610333
HP:0002538	Abnormal cerebral cortex morphology	10535	RNASEH2A	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	25939	SAMHD1	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	79621	RNASEH2B	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	134353	LSM11	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	64135	IFIH1	ORPHA:51
HP:0002538	Abnormal cerebral cortex morphology	1188	CLCNKB	ORPHA:358
HP:0002538	Abnormal cerebral cortex morphology	6559	SLC12A3	ORPHA:358
HP:0002538	Abnormal cerebral cortex morphology	8803	SUCLA2	ORPHA:1933
HP:0002538	Abnormal cerebral cortex morphology	8239	USP9X	ORPHA:480880
HP:0002538	Abnormal cerebral cortex morphology	8239	USP9X	OMIM:300968
HP:0002538	Abnormal cerebral cortex morphology	51008	ASCC1	OMIM:616867
HP:0002538	Abnormal cerebral cortex morphology	5457	POU4F1	ORPHA:314647
HP:0002538	Abnormal cerebral cortex morphology	23261	CAMTA1	ORPHA:314647
HP:0002538	Abnormal cerebral cortex morphology	219844	HYLS1	OMIM:236680
HP:0002538	Abnormal cerebral cortex morphology	80144	FRAS1	OMIM:219000
HP:0002538	Abnormal cerebral cortex morphology	2736	GLI2	OMIM:610829
HP:0002538	Abnormal cerebral cortex morphology	1718	DHCR24	ORPHA:35107
HP:0002538	Abnormal cerebral cortex morphology	3908	LAMA2	OMIM:607855
HP:0002538	Abnormal cerebral cortex morphology	57511	COG6	OMIM:614576
HP:0002538	Abnormal cerebral cortex morphology	283989	TSEN54	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	116461	TSEN15	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	79042	TSEN34	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	80746	TSEN2	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	51091	SEPSECS	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	9373	PLAA	ORPHA:521426
HP:0002538	Abnormal cerebral cortex morphology	9373	PLAA	OMIM:617527
HP:0002538	Abnormal cerebral cortex morphology	8481	OFD1	OMIM:311200
HP:0002538	Abnormal cerebral cortex morphology	477	ATP1A2	OMIM:619602
HP:0002538	Abnormal cerebral cortex morphology	26227	PHGDH	ORPHA:79351
HP:0002538	Abnormal cerebral cortex morphology	6311	ATXN2	ORPHA:98756
HP:0002538	Abnormal cerebral cortex morphology	22995	CEP152	OMIM:613823
HP:0002538	Abnormal cerebral cortex morphology	79718	TBL1XR1	ORPHA:487825
HP:0002538	Abnormal cerebral cortex morphology	84892	POMGNT2	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	148789	B3GALNT2	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	79147	FKRP	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	29954	POMT2	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	9215	LARGE1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	729920	CRPPA	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	10329	RXYLT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	1605	DAG1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	10585	POMT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	84197	POMK	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	2218	FKTN	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	55624	POMGNT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	55780	ERMARD	ORPHA:75857
HP:0002538	Abnormal cerebral cortex morphology	50814	NSDHL	ORPHA:251383
HP:0002538	Abnormal cerebral cortex morphology	10978	CLP1	ORPHA:411493
HP:0002538	Abnormal cerebral cortex morphology	6651	SON	ORPHA:500150
HP:0002538	Abnormal cerebral cortex morphology	63925	ZNF335	ORPHA:329228
HP:0002538	Abnormal cerebral cortex morphology	25915	NDUFAF3	ORPHA:70474
HP:0002538	Abnormal cerebral cortex morphology	4714	NDUFB8	ORPHA:70474
HP:0002538	Abnormal cerebral cortex morphology	4720	NDUFS2	ORPHA:70474
HP:0002538	Abnormal cerebral cortex morphology	9997	SCO2	ORPHA:70474
HP:0002538	Abnormal cerebral cortex morphology	6834	SURF1	ORPHA:70474
HP:0002538	Abnormal cerebral cortex morphology	259266	ASPM	OMIM:608716
HP:0002538	Abnormal cerebral cortex morphology	8450	CUL4B	OMIM:300354
HP:0002538	Abnormal cerebral cortex morphology	9342	SNAP29	OMIM:609528
HP:0002538	Abnormal cerebral cortex morphology	137492	VPS37A	ORPHA:319199
HP:0002538	Abnormal cerebral cortex morphology	1281	COL3A1	OMIM:618343
HP:0002538	Abnormal cerebral cortex morphology	535	ATP6V0A1	OMIM:619971
HP:0002538	Abnormal cerebral cortex morphology	203068	TUBB	OMIM:615771
HP:0002538	Abnormal cerebral cortex morphology	440	ASNS	OMIM:615574
HP:0002538	Abnormal cerebral cortex morphology	26047	CNTNAP2	OMIM:610042
HP:0002538	Abnormal cerebral cortex morphology	7528	YY1	OMIM:617557
HP:0002538	Abnormal cerebral cortex morphology	3796	KIF2A	OMIM:615411
HP:0002538	Abnormal cerebral cortex morphology	57514	ARHGAP31	OMIM:100300
HP:0002538	Abnormal cerebral cortex morphology	7355	SLC35A2	ORPHA:356961
HP:0002538	Abnormal cerebral cortex morphology	3458	IFNG	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7248	TSC1	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7248	TSC1	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	7249	TSC2	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7249	TSC2	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	3295	HSD17B4	OMIM:261515
HP:0002538	Abnormal cerebral cortex morphology	1282	COL4A1	OMIM:175780
HP:0002538	Abnormal cerebral cortex morphology	25914	RTTN	ORPHA:468631
HP:0002538	Abnormal cerebral cortex morphology	9289	ADGRG1	ORPHA:101070
HP:0002538	Abnormal cerebral cortex morphology	5728	PTEN	ORPHA:101070
HP:0002538	Abnormal cerebral cortex morphology	28514	DLL1	OMIM:618709
HP:0002538	Abnormal cerebral cortex morphology	2475	MTOR	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	6558	SLC12A2	OMIM:619083
HP:0002538	Abnormal cerebral cortex morphology	9896	FIG4	ORPHA:208441
HP:0002538	Abnormal cerebral cortex morphology	3800	KIF5C	OMIM:615282
HP:0002538	Abnormal cerebral cortex morphology	11041	B4GAT1	OMIM:615287
HP:0002538	Abnormal cerebral cortex morphology	23327	NEDD4L	OMIM:617201
HP:0002538	Abnormal cerebral cortex morphology	2260	FGFR1	OMIM:613001
HP:0002538	Abnormal cerebral cortex morphology	80199	FUZ	ORPHA:1136
HP:0002538	Abnormal cerebral cortex morphology	7280	TUBB2A	OMIM:615763
HP:0002538	Abnormal cerebral cortex morphology	1654	DDX3X	ORPHA:457260
HP:0002538	Abnormal cerebral cortex morphology	25942	SIN3A	OMIM:613406
HP:0002538	Abnormal cerebral cortex morphology	6335	SCN9A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	112755	STX1B	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	2563	GABRD	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6326	SCN2A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6323	SCN1A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6324	SCN1B	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	348980	HCN1	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	84059	ADGRV1	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	2566	GABRG2	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	5727	PTCH1	ORPHA:77301
HP:0002538	Abnormal cerebral cortex morphology	5727	PTCH1	OMIM:109400
HP:0002538	Abnormal cerebral cortex morphology	4921	DDR2	OMIM:271665
HP:0002538	Abnormal cerebral cortex morphology	368	ABCC6	OMIM:177850
HP:0002538	Abnormal cerebral cortex morphology	57688	ZSWIM6	OMIM:603671
HP:0002538	Abnormal cerebral cortex morphology	1893	ECM1	OMIM:247100
HP:0002538	Abnormal cerebral cortex morphology	5621	PRNP	OMIM:606688
HP:0002538	Abnormal cerebral cortex morphology	5621	PRNP	OMIM:600072
HP:0002538	Abnormal cerebral cortex morphology	54806	AHI1	OMIM:608629
HP:0002538	Abnormal cerebral cortex morphology	23229	ARHGEF9	OMIM:300607
HP:0002538	Abnormal cerebral cortex morphology	8496	PPFIBP1	OMIM:620024
HP:0002538	Abnormal cerebral cortex morphology	57465	TBC1D24	ORPHA:352582
HP:0002538	Abnormal cerebral cortex morphology	123606	NIPA1	ORPHA:261183
HP:0002538	Abnormal cerebral cortex morphology	81614	NIPA2	ORPHA:261183
HP:0002538	Abnormal cerebral cortex morphology	4208	MEF2C	ORPHA:228384
HP:0002538	Abnormal cerebral cortex morphology	2892	GRIA3	OMIM:300699
HP:0002538	Abnormal cerebral cortex morphology	3097	HIVEP2	OMIM:616977
HP:0002538	Abnormal cerebral cortex morphology	5147	PDE6D	OMIM:615665
HP:0002538	Abnormal cerebral cortex morphology	4983	OPHN1	ORPHA:137831
HP:0002538	Abnormal cerebral cortex morphology	104	ADARB1	OMIM:618862
HP:0002538	Abnormal cerebral cortex morphology	1528	CYB5A	ORPHA:621
HP:0002538	Abnormal cerebral cortex morphology	1727	CYB5R3	ORPHA:621
HP:0002538	Abnormal cerebral cortex morphology	9382	COG1	ORPHA:263508
HP:0002538	Abnormal cerebral cortex morphology	25978	CHMP2B	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	5663	PSEN1	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	2896	GRN	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	54664	TMEM106B	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	4137	MAPT	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	54209	TREM2	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	2879	GPX4	OMIM:250220
HP:0002538	Abnormal cerebral cortex morphology	5091	PC	OMIM:266150
HP:0002538	Abnormal cerebral cortex morphology	5277	PIGA	OMIM:301072
HP:0002538	Abnormal cerebral cortex morphology	2521	FUS	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	8878	SQSTM1	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	7415	VCP	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	23435	TARDBP	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	29110	TBK1	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	400916	CHCHD10	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	5354	PLP1	ORPHA:280210
HP:0002538	Abnormal cerebral cortex morphology	6513	SLC2A1	OMIM:608885
HP:0002538	Abnormal cerebral cortex morphology	6513	SLC2A1	ORPHA:168577
HP:0002538	Abnormal cerebral cortex morphology	1717	DHCR7	OMIM:270400
HP:0002538	Abnormal cerebral cortex morphology	55777	MBD5	OMIM:156200
HP:0002538	Abnormal cerebral cortex morphology	2232	FDXR	ORPHA:543470
HP:0002538	Abnormal cerebral cortex morphology	8813	DPM1	ORPHA:79322
HP:0002538	Abnormal cerebral cortex morphology	1161	ERCC8	ORPHA:90324
HP:0002538	Abnormal cerebral cortex morphology	1161	ERCC8	ORPHA:90322
HP:0002538	Abnormal cerebral cortex morphology	727676	SNORD118	ORPHA:542310
HP:0002538	Abnormal cerebral cortex morphology	84065	TMEM222	OMIM:619470
HP:0002538	Abnormal cerebral cortex morphology	10128	LRPPRC	OMIM:220111
HP:0002538	Abnormal cerebral cortex morphology	10617	STAMBP	OMIM:614261
HP:0002538	Abnormal cerebral cortex morphology	55627	SMPD4	OMIM:618622
HP:0002538	Abnormal cerebral cortex morphology	116115	ZNF526	OMIM:619877
HP:0002538	Abnormal cerebral cortex morphology	8405	SPOP	OMIM:618828
HP:0002538	Abnormal cerebral cortex morphology	1062	CENPE	OMIM:616051
HP:0002538	Abnormal cerebral cortex morphology	51124	IER3IP1	OMIM:614231
HP:0002538	Abnormal cerebral cortex morphology	5859	QARS1	OMIM:615760
HP:0002538	Abnormal cerebral cortex morphology	22983	MAST1	OMIM:618273
HP:0002538	Abnormal cerebral cortex morphology	9442	MED27	OMIM:619286
HP:0002538	Abnormal cerebral cortex morphology	91875	TTC5	OMIM:619244
HP:0002538	Abnormal cerebral cortex morphology	10293	TRAIP	OMIM:616777
HP:0002538	Abnormal cerebral cortex morphology	79693	YRDC	OMIM:619609
HP:0002538	Abnormal cerebral cortex morphology	7518	XRCC4	OMIM:616541
HP:0002538	Abnormal cerebral cortex morphology	84823	LMNB2	OMIM:616540
HP:0002538	Abnormal cerebral cortex morphology	84823	LMNB2	OMIM:619180
HP:0002538	Abnormal cerebral cortex morphology	6597	SMARCA4	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6659	SOX4	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	8289	ARID1A	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	5977	DPF2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6601	SMARCC2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6602	SMARCD1	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	57492	ARID1B	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	196528	ARID2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6605	SMARCE1	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6664	SOX11	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	2744	GLS	OMIM:618328
HP:0002538	Abnormal cerebral cortex morphology	10015	PDCD6IP	OMIM:620047
HP:0002538	Abnormal cerebral cortex morphology	84081	NSRP1	OMIM:620001
HP:0002538	Abnormal cerebral cortex morphology	1781	DYNC1I2	OMIM:618492
HP:0002538	Abnormal cerebral cortex morphology	51645	PPIL1	OMIM:619301
HP:0002538	Abnormal cerebral cortex morphology	51362	CDC40	OMIM:619302
HP:0002538	Abnormal cerebral cortex morphology	3832	KIF11	OMIM:152950
HP:0002538	Abnormal cerebral cortex morphology	4700	NDUFA6	OMIM:618253
HP:0002538	Abnormal cerebral cortex morphology	51053	GMNN	OMIM:616835
HP:0002538	Abnormal cerebral cortex morphology	29980	DONSON	OMIM:617604
HP:0002538	Abnormal cerebral cortex morphology	29980	DONSON	OMIM:251230
HP:0002538	Abnormal cerebral cortex morphology	27245	AHDC1	OMIM:615829
HP:0002538	Abnormal cerebral cortex morphology	10273	STUB1	ORPHA:412057
HP:0002538	Abnormal cerebral cortex morphology	6638	SNRPN	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	6638	SNRPN	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	6638	SNRPN	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	55681	SCYL2	OMIM:618766
HP:0002538	Abnormal cerebral cortex morphology	26278	SACS	ORPHA:98
HP:0002538	Abnormal cerebral cortex morphology	10430	TMEM147	OMIM:620075
HP:0002538	Abnormal cerebral cortex morphology	85440	DOCK7	ORPHA:411986
HP:0002538	Abnormal cerebral cortex morphology	23162	MAPK8IP3	OMIM:618443
HP:0002538	Abnormal cerebral cortex morphology	10367	MICU1	OMIM:615673
HP:0002538	Abnormal cerebral cortex morphology	6472	SHMT2	OMIM:619121
HP:0002538	Abnormal cerebral cortex morphology	2253	FGF8	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	7050	TGIF1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	4838	NODAL	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	7546	ZIC2	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	6491	STIL	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	2619	GAS1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	84976	DISP1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	8928	FOXH1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	50937	CDON	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	478	ATP1A3	OMIM:619606
HP:0002538	Abnormal cerebral cortex morphology	54187	NANS	OMIM:610442
HP:0002538	Abnormal cerebral cortex morphology	387119	CEP85L	OMIM:618873
HP:0002538	Abnormal cerebral cortex morphology	160418	TMTC3	OMIM:617255
HP:0002538	Abnormal cerebral cortex morphology	9276	COPB2	OMIM:619884
HP:0002538	Abnormal cerebral cortex morphology	8131	NPRL3	OMIM:617118
HP:0002538	Abnormal cerebral cortex morphology	8131	NPRL3	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	1778	DYNC1H1	OMIM:614563
HP:0002538	Abnormal cerebral cortex morphology	10641	NPRL2	OMIM:617116
HP:0002538	Abnormal cerebral cortex morphology	10641	NPRL2	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	55746	NUP133	OMIM:618349
HP:0002538	Abnormal cerebral cortex morphology	5290	PIK3CA	ORPHA:99802
HP:0002538	Abnormal cerebral cortex morphology	10000	AKT3	ORPHA:99802
HP:0002538	Abnormal cerebral cortex morphology	9681	DEPDC5	OMIM:604364
HP:0002538	Abnormal cerebral cortex morphology	9681	DEPDC5	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	23309	SIN3B	ORPHA:500166
HP:0002538	Abnormal cerebral cortex morphology	347733	TUBB2B	ORPHA:467166
HP:0002538	Abnormal cerebral cortex morphology	7846	TUBA1A	ORPHA:467166
HP:0002538	Abnormal cerebral cortex morphology	10381	TUBB3	ORPHA:467166
HP:0002538	Abnormal cerebral cortex morphology	3912	LAMB1	ORPHA:352682
HP:0002538	Abnormal cerebral cortex morphology	5048	PAFAH1B1	ORPHA:95232
HP:0002538	Abnormal cerebral cortex morphology	5297	PI4KA	ORPHA:98889
HP:0002538	Abnormal cerebral cortex morphology	27286	SRPX2	ORPHA:98889
HP:0002538	Abnormal cerebral cortex morphology	27286	SRPX2	OMIM:300643
HP:0002538	Abnormal cerebral cortex morphology	7283	TUBG1	OMIM:615412
HP:0002538	Abnormal cerebral cortex morphology	10844	TUBGCP2	OMIM:618737
HP:0002538	Abnormal cerebral cortex morphology	79633	FAT4	OMIM:615546
HP:0002538	Abnormal cerebral cortex morphology	8642	DCHS1	OMIM:601390
HP:0002538	Abnormal cerebral cortex morphology	2009	EML1	OMIM:600348
HP:0002538	Abnormal cerebral cortex morphology	22858	CILK1	OMIM:612651
HP:0002538	Abnormal cerebral cortex morphology	10524	KAT5	OMIM:619103
HP:0002538	Abnormal cerebral cortex morphology	2261	FGFR3	OMIM:187601
HP:0002538	Abnormal cerebral cortex morphology	11113	CIT	OMIM:617090
HP:0002538	Abnormal cerebral cortex morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002538	Abnormal cerebral cortex morphology	9928	KIF14	OMIM:617914
HP:0002538	Abnormal cerebral cortex morphology	10300	KATNB1	OMIM:616212
HP:0002538	Abnormal cerebral cortex morphology	10300	KATNB1	ORPHA:89844
HP:0002538	Abnormal cerebral cortex morphology	5649	RELN	ORPHA:89844
HP:0002538	Abnormal cerebral cortex morphology	54820	NDE1	ORPHA:89844
HP:0002538	Abnormal cerebral cortex morphology	1301	COL11A1	OMIM:154780
HP:0002538	Abnormal cerebral cortex morphology	2639	GCDH	ORPHA:25
HP:0002538	Abnormal cerebral cortex morphology	79848	CSPP1	ORPHA:397715
HP:0002538	Abnormal cerebral cortex morphology	9786	KIAA0586	ORPHA:397715
HP:0002538	Abnormal cerebral cortex morphology	54805	CNNM2	OMIM:616418
HP:0002538	Abnormal cerebral cortex morphology	26005	C2CD3	ORPHA:434179
HP:0002538	Abnormal cerebral cortex morphology	2917	GRM7	OMIM:618922
HP:0002538	Abnormal cerebral cortex morphology	57094	CPA6	OMIM:614418
HP:0002538	Abnormal cerebral cortex morphology	29998	BICRA	OMIM:619325
HP:0002538	Abnormal cerebral cortex morphology	4750	NEK1	OMIM:617892
HP:0002539	Cortical dysplasia	259266	ASPM	OMIM:608716
HP:0002539	Cortical dysplasia	8450	CUL4B	OMIM:300354
HP:0002539	Cortical dysplasia	9342	SNAP29	OMIM:609528
HP:0002539	Cortical dysplasia	137492	VPS37A	ORPHA:319199
HP:0002539	Cortical dysplasia	1281	COL3A1	OMIM:618343
HP:0002539	Cortical dysplasia	535	ATP6V0A1	OMIM:619971
HP:0002539	Cortical dysplasia	347733	TUBB2B	ORPHA:300573
HP:0002539	Cortical dysplasia	203068	TUBB	OMIM:615771
HP:0002539	Cortical dysplasia	440	ASNS	OMIM:615574
HP:0002539	Cortical dysplasia	7528	YY1	OMIM:617557
HP:0002539	Cortical dysplasia	3796	KIF2A	OMIM:615411
HP:0002539	Cortical dysplasia	57514	ARHGAP31	OMIM:100300
HP:0002539	Cortical dysplasia	7355	SLC35A2	ORPHA:356961
HP:0002539	Cortical dysplasia	3458	IFNG	ORPHA:805
HP:0002539	Cortical dysplasia	3295	HSD17B4	OMIM:261515
HP:0002539	Cortical dysplasia	25914	RTTN	ORPHA:468631
HP:0002539	Cortical dysplasia	9289	ADGRG1	ORPHA:101070
HP:0002539	Cortical dysplasia	5728	PTEN	ORPHA:101070
HP:0002539	Cortical dysplasia	28514	DLL1	OMIM:618709
HP:0002539	Cortical dysplasia	6558	SLC12A2	OMIM:619083
HP:0002539	Cortical dysplasia	9896	FIG4	ORPHA:208441
HP:0002539	Cortical dysplasia	3800	KIF5C	OMIM:615282
HP:0002539	Cortical dysplasia	11041	B4GAT1	OMIM:615287
HP:0002539	Cortical dysplasia	23327	NEDD4L	OMIM:617201
HP:0002539	Cortical dysplasia	2260	FGFR1	OMIM:613001
HP:0002539	Cortical dysplasia	80199	FUZ	ORPHA:1136
HP:0002539	Cortical dysplasia	7280	TUBB2A	OMIM:615763
HP:0002539	Cortical dysplasia	1654	DDX3X	ORPHA:457260
HP:0002539	Cortical dysplasia	10381	TUBB3	OMIM:614039
HP:0002539	Cortical dysplasia	6335	SCN9A	ORPHA:36387
HP:0002539	Cortical dysplasia	112755	STX1B	ORPHA:36387
HP:0002539	Cortical dysplasia	2563	GABRD	ORPHA:36387
HP:0002539	Cortical dysplasia	6326	SCN2A	ORPHA:36387
HP:0002539	Cortical dysplasia	6323	SCN1A	ORPHA:36387
HP:0002539	Cortical dysplasia	6324	SCN1B	ORPHA:36387
HP:0002539	Cortical dysplasia	348980	HCN1	ORPHA:36387
HP:0002539	Cortical dysplasia	84059	ADGRV1	ORPHA:36387
HP:0002539	Cortical dysplasia	2566	GABRG2	ORPHA:36387
HP:0002539	Cortical dysplasia	9997	SCO2	OMIM:604377
HP:0002539	Cortical dysplasia	9276	COPB2	OMIM:619884
HP:0002539	Cortical dysplasia	26047	CNTNAP2	OMIM:610042
HP:0002539	Cortical dysplasia	8131	NPRL3	OMIM:617118
HP:0002539	Cortical dysplasia	8131	NPRL3	ORPHA:98820
HP:0002539	Cortical dysplasia	10585	POMT1	OMIM:613155
HP:0002539	Cortical dysplasia	1778	DYNC1H1	OMIM:614563
HP:0002539	Cortical dysplasia	10641	NPRL2	OMIM:617116
HP:0002539	Cortical dysplasia	10641	NPRL2	ORPHA:98820
HP:0002539	Cortical dysplasia	55746	NUP133	OMIM:618349
HP:0002539	Cortical dysplasia	1282	COL4A1	OMIM:175780
HP:0002539	Cortical dysplasia	5290	PIK3CA	ORPHA:99802
HP:0002539	Cortical dysplasia	2475	MTOR	ORPHA:99802
HP:0002539	Cortical dysplasia	10000	AKT3	ORPHA:99802
HP:0002539	Cortical dysplasia	9681	DEPDC5	OMIM:604364
HP:0002539	Cortical dysplasia	9681	DEPDC5	ORPHA:98820
HP:0002539	Cortical dysplasia	7248	TSC1	OMIM:607341
HP:0002539	Cortical dysplasia	7249	TSC2	OMIM:607341
HP:0002539	Cortical dysplasia	23309	SIN3B	ORPHA:500166
HP:0002539	Cortical dysplasia	25942	SIN3A	ORPHA:500166
HP:0012751	Abnormal basal ganglia MRI signal intensity	6389	SDHA	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	80704	SLC19A3	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	91942	NDUFAF2	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	6834	SURF1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4723	NDUFV1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	55572	FOXRED1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4729	NDUFV2	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	55967	NDUFA12	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	51204	TACO1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	51204	TACO1	OMIM:619052
HP:0012751	Abnormal basal ganglia MRI signal intensity	4720	NDUFS2	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4724	NDUFS4	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4724	NDUFS4	OMIM:252010
HP:0012751	Abnormal basal ganglia MRI signal intensity	4728	NDUFS8	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	137682	NDUFAF6	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4722	NDUFS3	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	79133	NDUFAF5	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	5160	PDHA1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	100131801	PET100	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	1355	COX15	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	1892	ECHS1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	123263	MTFMT	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	51079	NDUFA13	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	374291	NDUFS7	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4705	NDUFA10	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	51601	LIPT1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4719	NDUFS1	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4719	NDUFS1	OMIM:618226
HP:0012751	Abnormal basal ganglia MRI signal intensity	4695	NDUFA2	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4697	NDUFA4	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	4704	NDUFA9	ORPHA:255241
HP:0012751	Abnormal basal ganglia MRI signal intensity	8802	SUCLG1	OMIM:245400
HP:0012751	Abnormal basal ganglia MRI signal intensity	5621	PRNP	ORPHA:282166
HP:0012751	Abnormal basal ganglia MRI signal intensity	4535	MT-ND1	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4536	MT-ND2	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4537	MT-ND3	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4538	MT-ND4	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4567	MT-TL1	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4578	MT-TW	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4577	MT-TV	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4508	MT-ATP6	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4540	MT-ND5	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4541	MT-ND6	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4566	MT-TK	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	57107	PDSS2	ORPHA:255249
HP:0012751	Abnormal basal ganglia MRI signal intensity	57107	PDSS2	OMIM:614652
HP:0012751	Abnormal basal ganglia MRI signal intensity	27235	COQ2	ORPHA:255249
HP:0012751	Abnormal basal ganglia MRI signal intensity	85365	ALG2	OMIM:607906
HP:0012751	Abnormal basal ganglia MRI signal intensity	80208	SPG11	ORPHA:2822
HP:0012751	Abnormal basal ganglia MRI signal intensity	2670	GFAP	ORPHA:363717
HP:0012751	Abnormal basal ganglia MRI signal intensity	23474	ETHE1	OMIM:602473
HP:0012751	Abnormal basal ganglia MRI signal intensity	10128	LRPPRC	ORPHA:70472
HP:0012751	Abnormal basal ganglia MRI signal intensity	2737	GLI3	ORPHA:672
HP:0012751	Abnormal basal ganglia MRI signal intensity	10367	MICU1	ORPHA:401768
HP:0012751	Abnormal basal ganglia MRI signal intensity	55532	SLC30A10	ORPHA:309854
HP:0012751	Abnormal basal ganglia MRI signal intensity	443	ASPA	ORPHA:314918
HP:0012751	Abnormal basal ganglia MRI signal intensity	56947	MFF	ORPHA:485421
HP:0012751	Abnormal basal ganglia MRI signal intensity	133686	NADK2	ORPHA:431361
HP:0012751	Abnormal basal ganglia MRI signal intensity	22868	FASTKD2	OMIM:618855
HP:0012751	Abnormal basal ganglia MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012751	Abnormal basal ganglia MRI signal intensity	56997	COQ8A	ORPHA:139485
HP:0012751	Abnormal basal ganglia MRI signal intensity	2639	GCDH	ORPHA:25
HP:0012751	Abnormal basal ganglia MRI signal intensity	55823	VPS11	OMIM:619637
HP:0012751	Abnormal basal ganglia MRI signal intensity	2720	GLB1	ORPHA:79255
HP:0012751	Abnormal basal ganglia MRI signal intensity	10846	PDE10A	ORPHA:494541
HP:0012751	Abnormal basal ganglia MRI signal intensity	51102	MECR	ORPHA:508093
HP:0012752	Focal T2 hypointense basal ganglia lesion	4724	NDUFS4	OMIM:252010
HP:0012752	Focal T2 hypointense basal ganglia lesion	56997	COQ8A	ORPHA:139485
HP:0012753	T2 hypointense basal ganglia	2639	GCDH	ORPHA:25
HP:0012753	T2 hypointense basal ganglia	55823	VPS11	OMIM:619637
HP:0012753	T2 hypointense basal ganglia	2720	GLB1	ORPHA:79255
HP:0012757	Abnormal neuron morphology	10908	PNPLA6	OMIM:215470
HP:0012757	Abnormal neuron morphology	2632	GBE1	OMIM:263570
HP:0012757	Abnormal neuron morphology	11160	ERLIN2	ORPHA:247604
HP:0012757	Abnormal neuron morphology	7305	TYROBP	OMIM:221770
HP:0012757	Abnormal neuron morphology	5832	ALDH18A1	OMIM:601162
HP:0012757	Abnormal neuron morphology	23064	SETX	OMIM:602433
HP:0012757	Abnormal neuron morphology	427	ASAH1	ORPHA:2590
HP:0012757	Abnormal neuron morphology	6687	SPG7	ORPHA:35689
HP:0012757	Abnormal neuron morphology	83636	C19orf12	OMIM:614298
HP:0012757	Abnormal neuron morphology	57679	ALS2	OMIM:205100
HP:0012757	Abnormal neuron morphology	57679	ALS2	OMIM:607225
HP:0012757	Abnormal neuron morphology	9782	MATR3	OMIM:606070
HP:0012757	Abnormal neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0012757	Abnormal neuron morphology	29110	TBK1	OMIM:616439
HP:0012757	Abnormal neuron morphology	29110	TBK1	ORPHA:275872
HP:0012757	Abnormal neuron morphology	7415	VCP	OMIM:613954
HP:0012757	Abnormal neuron morphology	7415	VCP	ORPHA:275872
HP:0012757	Abnormal neuron morphology	7415	VCP	ORPHA:100070
HP:0012757	Abnormal neuron morphology	8878	SQSTM1	OMIM:616437
HP:0012757	Abnormal neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0012757	Abnormal neuron morphology	1639	DCTN1	OMIM:607641
HP:0012757	Abnormal neuron morphology	4287	ATXN3	ORPHA:276244
HP:0012757	Abnormal neuron morphology	54822	TRPM7	OMIM:105500
HP:0012757	Abnormal neuron morphology	2521	FUS	ORPHA:275872
HP:0012757	Abnormal neuron morphology	23435	TARDBP	ORPHA:275872
HP:0012757	Abnormal neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0012757	Abnormal neuron morphology	80208	SPG11	OMIM:602099
HP:0012757	Abnormal neuron morphology	203228	C9orf72	OMIM:105550
HP:0012757	Abnormal neuron morphology	55187	VPS13D	ORPHA:95434
HP:0012757	Abnormal neuron morphology	27072	VPS41	ORPHA:95434
HP:0012757	Abnormal neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0012757	Abnormal neuron morphology	5663	PSEN1	ORPHA:100070
HP:0012757	Abnormal neuron morphology	2896	GRN	ORPHA:100070
HP:0012757	Abnormal neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0012757	Abnormal neuron morphology	4137	MAPT	ORPHA:100070
HP:0012757	Abnormal neuron morphology	54209	TREM2	ORPHA:100070
HP:0012757	Abnormal neuron morphology	65250	CPLANE1	ORPHA:65684
HP:0012757	Abnormal neuron morphology	57562	CEP126	ORPHA:65684
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:253550
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:271150
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:253400
HP:0012757	Abnormal neuron morphology	11340	EXOSC8	ORPHA:2254
HP:0012757	Abnormal neuron morphology	5393	EXOSC9	ORPHA:2254
HP:0012757	Abnormal neuron morphology	23287	AGTPBP1	ORPHA:2254
HP:0012757	Abnormal neuron morphology	51010	EXOSC3	ORPHA:2254
HP:0012757	Abnormal neuron morphology	7443	VRK1	ORPHA:2254
HP:0012757	Abnormal neuron morphology	7443	VRK1	OMIM:607596
HP:0012757	Abnormal neuron morphology	91137	SLC25A46	ORPHA:2254
HP:0012757	Abnormal neuron morphology	10342	TFG	OMIM:604484
HP:0012757	Abnormal neuron morphology	6647	SOD1	OMIM:105400
HP:0012757	Abnormal neuron morphology	5630	PRPH	OMIM:105400
HP:0012757	Abnormal neuron morphology	4744	NEFH	OMIM:105400
HP:0012757	Abnormal neuron morphology	311	ANXA11	OMIM:617839
HP:0012757	Abnormal neuron morphology	3508	IGHMBP2	OMIM:604320
HP:0012757	Abnormal neuron morphology	6607	SMN2	OMIM:253400
HP:0012757	Abnormal neuron morphology	3178	HNRNPA1	ORPHA:52430
HP:0012757	Abnormal neuron morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012757	Abnormal neuron morphology	2733	GLE1	OMIM:611890
HP:0012757	Abnormal neuron morphology	7317	UBA1	ORPHA:1145
HP:0012757	Abnormal neuron morphology	1540	CYLD	OMIM:619132
HP:0012757	Abnormal neuron morphology	7072	TIA1	OMIM:619133
HP:0012757	Abnormal neuron morphology	7277	TUBA4A	OMIM:616208
HP:0012757	Abnormal neuron morphology	10280	SIGMAR1	ORPHA:300605
HP:0012757	Abnormal neuron morphology	10280	SIGMAR1	OMIM:614373
HP:0012757	Abnormal neuron morphology	10558	SPTLC1	ORPHA:300605
HP:0012757	Abnormal neuron morphology	3798	KIF5A	OMIM:617921
HP:0012757	Abnormal neuron morphology	55131	RBM28	ORPHA:157954
HP:0012757	Abnormal neuron morphology	8148	TAF15	ORPHA:803
HP:0012757	Abnormal neuron morphology	5445	PON2	ORPHA:803
HP:0012757	Abnormal neuron morphology	9217	VAPB	ORPHA:803
HP:0012757	Abnormal neuron morphology	55830	GLT8D1	ORPHA:803
HP:0012757	Abnormal neuron morphology	755	CFAP410	ORPHA:803
HP:0012757	Abnormal neuron morphology	10891	PPARGC1A	ORPHA:803
HP:0012757	Abnormal neuron morphology	10133	OPTN	ORPHA:803
HP:0012757	Abnormal neuron morphology	9896	FIG4	ORPHA:803
HP:0012757	Abnormal neuron morphology	5444	PON1	ORPHA:803
HP:0012757	Abnormal neuron morphology	5446	PON3	ORPHA:803
HP:0012757	Abnormal neuron morphology	5216	PFN1	ORPHA:803
HP:0012757	Abnormal neuron morphology	283	ANG	ORPHA:803
HP:0012757	Abnormal neuron morphology	29978	UBQLN2	ORPHA:803
HP:0012757	Abnormal neuron morphology	4750	NEK1	ORPHA:803
HP:0012757	Abnormal neuron morphology	2043	EPHA4	ORPHA:803
HP:0012757	Abnormal neuron morphology	6311	ATXN2	ORPHA:803
HP:0012757	Abnormal neuron morphology	1610	DAO	ORPHA:803
HP:0012757	Abnormal neuron morphology	2066	ERBB4	ORPHA:803
HP:0012757	Abnormal neuron morphology	23025	UNC13A	ORPHA:803
HP:0012757	Abnormal neuron morphology	899	CCNF	ORPHA:803
HP:0012757	Abnormal neuron morphology	5290	PIK3CA	ORPHA:99802
HP:0012757	Abnormal neuron morphology	2475	MTOR	ORPHA:99802
HP:0012757	Abnormal neuron morphology	10000	AKT3	ORPHA:99802
HP:0012757	Abnormal neuron morphology	26047	CNTNAP2	ORPHA:163681
HP:0012757	Abnormal neuron morphology	63925	ZNF335	ORPHA:329228
HP:0012757	Abnormal neuron morphology	5575	PRKAR1B	ORPHA:412066
HP:0012757	Abnormal neuron morphology	55165	CEP55	OMIM:236500
HP:0012758	Neurodevelopmental delay	55703	POLR3B	OMIM:614381
HP:0012758	Neurodevelopmental delay	55703	POLR3B	OMIM:619742
HP:0012758	Neurodevelopmental delay	51256	TBC1D7	OMIM:248000
HP:0012758	Neurodevelopmental delay	6659	SOX4	OMIM:618506
HP:0012758	Neurodevelopmental delay	81570	CLPB	OMIM:619835
HP:0012758	Neurodevelopmental delay	5457	POU4F1	ORPHA:314647
HP:0012758	Neurodevelopmental delay	23261	CAMTA1	ORPHA:314647
HP:0012758	Neurodevelopmental delay	23261	CAMTA1	OMIM:614756
HP:0012758	Neurodevelopmental delay	55209	SETD5	ORPHA:404440
HP:0012758	Neurodevelopmental delay	55209	SETD5	OMIM:615761
HP:0012758	Neurodevelopmental delay	10743	RAI1	ORPHA:477817
HP:0012758	Neurodevelopmental delay	10743	RAI1	ORPHA:819
HP:0012758	Neurodevelopmental delay	10743	RAI1	OMIM:182290
HP:0012758	Neurodevelopmental delay	24137	KIF4A	OMIM:300923
HP:0012758	Neurodevelopmental delay	80816	ASXL3	OMIM:615485
HP:0012758	Neurodevelopmental delay	4487	MSX1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	5818	NECTIN1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	1739	DLG1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	652	BMP4	ORPHA:199306
HP:0012758	Neurodevelopmental delay	8626	TP63	ORPHA:199306
HP:0012758	Neurodevelopmental delay	999	CDH1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	5156	PDGFRA	ORPHA:199306
HP:0012758	Neurodevelopmental delay	3664	IRF6	ORPHA:199306
HP:0012758	Neurodevelopmental delay	9411	ARHGAP29	ORPHA:199306
HP:0012758	Neurodevelopmental delay	1748	DLX4	ORPHA:199306
HP:0012758	Neurodevelopmental delay	8942	KYNU	OMIM:617661
HP:0012758	Neurodevelopmental delay	55690	PACS1	OMIM:615009
HP:0012758	Neurodevelopmental delay	55690	PACS1	ORPHA:329224
HP:0012758	Neurodevelopmental delay	55904	KMT2E	OMIM:618512
HP:0012758	Neurodevelopmental delay	57082	KNL1	OMIM:604321
HP:0012758	Neurodevelopmental delay	55650	PIGV	OMIM:239300
HP:0012758	Neurodevelopmental delay	2188	FANCF	OMIM:603467
HP:0012758	Neurodevelopmental delay	8029	CUBN	ORPHA:35858
HP:0012758	Neurodevelopmental delay	81693	AMN	ORPHA:35858
HP:0012758	Neurodevelopmental delay	79868	ALG13	ORPHA:324422
HP:0012758	Neurodevelopmental delay	288	ANK3	OMIM:615493
HP:0012758	Neurodevelopmental delay	288	ANK3	ORPHA:356996
HP:0012758	Neurodevelopmental delay	818	CAMK2G	OMIM:618522
HP:0012758	Neurodevelopmental delay	64359	NXN	OMIM:618529
HP:0012758	Neurodevelopmental delay	7436	VLDLR	OMIM:224050
HP:0012758	Neurodevelopmental delay	4091	SMAD6	OMIM:617439
HP:0012758	Neurodevelopmental delay	84100	ARL6	OMIM:209900
HP:0012758	Neurodevelopmental delay	79140	CCDC28B	OMIM:209900
HP:0012758	Neurodevelopmental delay	582	BBS1	OMIM:209900
HP:0012758	Neurodevelopmental delay	5528	PPP2R5D	OMIM:616355
HP:0012758	Neurodevelopmental delay	5528	PPP2R5D	ORPHA:457279
HP:0012758	Neurodevelopmental delay	23327	NEDD4L	OMIM:617201
HP:0012758	Neurodevelopmental delay	6602	SMARCD1	OMIM:618779
HP:0012758	Neurodevelopmental delay	5373	PMM2	OMIM:212065
HP:0012758	Neurodevelopmental delay	5373	PMM2	ORPHA:79318
HP:0012758	Neurodevelopmental delay	8493	PPM1D	OMIM:617450
HP:0012758	Neurodevelopmental delay	55773	TBC1D23	OMIM:617695
HP:0012758	Neurodevelopmental delay	8558	CDK10	OMIM:617694
HP:0012758	Neurodevelopmental delay	51633	OTUD6B	OMIM:617452
HP:0012758	Neurodevelopmental delay	9354	UBE4A	OMIM:619639
HP:0012758	Neurodevelopmental delay	55280	CWF19L1	OMIM:616127
HP:0012758	Neurodevelopmental delay	55280	CWF19L1	ORPHA:453521
HP:0012758	Neurodevelopmental delay	92609	TIMM50	OMIM:617698
HP:0012758	Neurodevelopmental delay	5590	PRKCZ	ORPHA:1606
HP:0012758	Neurodevelopmental delay	2563	GABRD	ORPHA:1606
HP:0012758	Neurodevelopmental delay	8510	MMP23B	ORPHA:1606
HP:0012758	Neurodevelopmental delay	7798	LUZP1	ORPHA:1606
HP:0012758	Neurodevelopmental delay	6497	SKI	ORPHA:1606
HP:0012758	Neurodevelopmental delay	10630	PDPN	ORPHA:1606
HP:0012758	Neurodevelopmental delay	3339	HSPG2	ORPHA:1606
HP:0012758	Neurodevelopmental delay	10277	UBE4B	ORPHA:1606
HP:0012758	Neurodevelopmental delay	8514	KCNAB2	ORPHA:1606
HP:0012758	Neurodevelopmental delay	473	RERE	ORPHA:1606
HP:0012758	Neurodevelopmental delay	63976	PRDM16	ORPHA:1606
HP:0012758	Neurodevelopmental delay	54897	CASZ1	ORPHA:1606
HP:0012758	Neurodevelopmental delay	79718	TBL1XR1	OMIM:602342
HP:0012758	Neurodevelopmental delay	5621	PRNP	ORPHA:157941
HP:0012758	Neurodevelopmental delay	5981	RFC1	ORPHA:504476
HP:0012758	Neurodevelopmental delay	55739	NAXD	OMIM:618321
HP:0012758	Neurodevelopmental delay	2260	FGFR1	OMIM:166250
HP:0012758	Neurodevelopmental delay	2260	FGFR1	OMIM:190440
HP:0012758	Neurodevelopmental delay	25836	NIPBL	OMIM:122470
HP:0012758	Neurodevelopmental delay	2778	GNAS	ORPHA:79445
HP:0012758	Neurodevelopmental delay	2055	CLN8	OMIM:600143
HP:0012758	Neurodevelopmental delay	2055	CLN8	ORPHA:1947
HP:0012758	Neurodevelopmental delay	2033	EP300	OMIM:618333
HP:0012758	Neurodevelopmental delay	2033	EP300	OMIM:613684
HP:0012758	Neurodevelopmental delay	2033	EP300	ORPHA:353284
HP:0012758	Neurodevelopmental delay	2033	EP300	OMIM:180849
HP:0012758	Neurodevelopmental delay	10533	ATG7	OMIM:619422
HP:0012758	Neurodevelopmental delay	120	ADD3	OMIM:617008
HP:0012758	Neurodevelopmental delay	4212	MEIS2	ORPHA:261190
HP:0012758	Neurodevelopmental delay	6443	SGCB	ORPHA:119
HP:0012758	Neurodevelopmental delay	9949	AMMECR1	OMIM:300990
HP:0012758	Neurodevelopmental delay	695	BTK	OMIM:300755
HP:0012758	Neurodevelopmental delay	6134	RPL10	OMIM:300998
HP:0012758	Neurodevelopmental delay	6134	RPL10	ORPHA:459070
HP:0012758	Neurodevelopmental delay	57122	NUP107	OMIM:618348
HP:0012758	Neurodevelopmental delay	57122	NUP107	OMIM:616730
HP:0012758	Neurodevelopmental delay	6418	SET	OMIM:618106
HP:0012758	Neurodevelopmental delay	50814	NSDHL	ORPHA:251383
HP:0012758	Neurodevelopmental delay	50814	NSDHL	OMIM:300831
HP:0012758	Neurodevelopmental delay	5575	PRKAR1B	OMIM:619680
HP:0012758	Neurodevelopmental delay	5515	PPP2CA	OMIM:618354
HP:0012758	Neurodevelopmental delay	6096	RORB	OMIM:618357
HP:0012758	Neurodevelopmental delay	112755	STX1B	OMIM:616172
HP:0012758	Neurodevelopmental delay	55262	TRAPPC14	OMIM:618351
HP:0012758	Neurodevelopmental delay	23043	TNIK	OMIM:617028
HP:0012758	Neurodevelopmental delay	55250	ELP2	OMIM:617270
HP:0012758	Neurodevelopmental delay	84340	GFM2	ORPHA:565624
HP:0012758	Neurodevelopmental delay	84340	GFM2	OMIM:618397
HP:0012758	Neurodevelopmental delay	51132	RLIM	OMIM:300978
HP:0012758	Neurodevelopmental delay	10588	MTHFS	OMIM:618367
HP:0012758	Neurodevelopmental delay	2334	AFF2	OMIM:309548
HP:0012758	Neurodevelopmental delay	2334	AFF2	ORPHA:100973
HP:0012758	Neurodevelopmental delay	24140	FTSJ1	OMIM:309549
HP:0012758	Neurodevelopmental delay	6601	SMARCC2	OMIM:618362
HP:0012758	Neurodevelopmental delay	513	ATP5F1D	OMIM:618120
HP:0012758	Neurodevelopmental delay	27341	RRP7A	OMIM:619453
HP:0012758	Neurodevelopmental delay	2019	EN1	OMIM:619218
HP:0012758	Neurodevelopmental delay	80311	KLHL15	OMIM:300982
HP:0012758	Neurodevelopmental delay	56776	FMN2	OMIM:616193
HP:0012758	Neurodevelopmental delay	2068	ERCC2	OMIM:601675
HP:0012758	Neurodevelopmental delay	1760	DMPK	ORPHA:589821
HP:0012758	Neurodevelopmental delay	7086	TKT	OMIM:617044
HP:0012758	Neurodevelopmental delay	7086	TKT	ORPHA:488618
HP:0012758	Neurodevelopmental delay	63931	MRPS14	OMIM:618378
HP:0012758	Neurodevelopmental delay	164	AP1G1	OMIM:619467
HP:0012758	Neurodevelopmental delay	164	AP1G1	OMIM:619548
HP:0012758	Neurodevelopmental delay	9758	FRMPD4	OMIM:300983
HP:0012758	Neurodevelopmental delay	26160	IFT172	OMIM:619471
HP:0012758	Neurodevelopmental delay	55697	VAC14	OMIM:617054
HP:0012758	Neurodevelopmental delay	57498	KIDINS220	OMIM:617296
HP:0012758	Neurodevelopmental delay	57187	THOC2	OMIM:300957
HP:0012758	Neurodevelopmental delay	57187	THOC2	ORPHA:457240
HP:0012758	Neurodevelopmental delay	9851	KIAA0753	OMIM:619479
HP:0012758	Neurodevelopmental delay	27107	ZBTB11	OMIM:618383
HP:0012758	Neurodevelopmental delay	7737	RNF113A	OMIM:300953
HP:0012758	Neurodevelopmental delay	4361	MRE11	ORPHA:251347
HP:0012758	Neurodevelopmental delay	4361	MRE11	OMIM:604391
HP:0012758	Neurodevelopmental delay	6608	SMO	OMIM:241800
HP:0012758	Neurodevelopmental delay	80036	TRPM3	OMIM:620224
HP:0012758	Neurodevelopmental delay	10283	CWC27	ORPHA:166035
HP:0012758	Neurodevelopmental delay	10283	CWC27	OMIM:250410
HP:0012758	Neurodevelopmental delay	11198	SUPT16H	OMIM:619480
HP:0012758	Neurodevelopmental delay	1457	CSNK2A1	OMIM:617062
HP:0012758	Neurodevelopmental delay	100147744	RNU7-1	OMIM:619487
HP:0012758	Neurodevelopmental delay	6872	TAF1	OMIM:300966
HP:0012758	Neurodevelopmental delay	6872	TAF1	ORPHA:480907
HP:0012758	Neurodevelopmental delay	8239	USP9X	OMIM:300968
HP:0012758	Neurodevelopmental delay	57477	SHROOM4	ORPHA:85288
HP:0012758	Neurodevelopmental delay	23067	SETD1B	OMIM:619000
HP:0012758	Neurodevelopmental delay	9373	PLAA	ORPHA:521426
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	OMIM:309530
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	ORPHA:819
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	ORPHA:217377
HP:0012758	Neurodevelopmental delay	5625	PRODH	OMIM:239500
HP:0012758	Neurodevelopmental delay	2799	GNS	OMIM:252940
HP:0012758	Neurodevelopmental delay	1315	COPB1	OMIM:619255
HP:0012758	Neurodevelopmental delay	284058	KANSL1	OMIM:610443
HP:0012758	Neurodevelopmental delay	284058	KANSL1	ORPHA:363958
HP:0012758	Neurodevelopmental delay	284058	KANSL1	ORPHA:363965
HP:0012758	Neurodevelopmental delay	2801	GOLGA2	OMIM:620240
HP:0012758	Neurodevelopmental delay	284361	EMC10	OMIM:619264
HP:0012758	Neurodevelopmental delay	170302	ARX	OMIM:309510
HP:0012758	Neurodevelopmental delay	170302	ARX	ORPHA:94083
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	OMIM:610217
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	OMIM:256600
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	ORPHA:35069
HP:0012758	Neurodevelopmental delay	55294	FBXW7	OMIM:620012
HP:0012758	Neurodevelopmental delay	5138	PDE2A	OMIM:619150
HP:0012758	Neurodevelopmental delay	26960	NBEA	OMIM:619157
HP:0012758	Neurodevelopmental delay	23241	PACS2	OMIM:618067
HP:0012758	Neurodevelopmental delay	123263	MTFMT	OMIM:614947
HP:0012758	Neurodevelopmental delay	340990	OTOG	OMIM:614945
HP:0012758	Neurodevelopmental delay	51343	FZR1	OMIM:620145
HP:0012758	Neurodevelopmental delay	51343	FZR1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	3199	HOXA2	ORPHA:83463
HP:0012758	Neurodevelopmental delay	2314	FLII	ORPHA:819
HP:0012758	Neurodevelopmental delay	4001	LMNB1	OMIM:619179
HP:0012758	Neurodevelopmental delay	3766	KCNJ10	OMIM:612780
HP:0012758	Neurodevelopmental delay	80204	FBXO11	OMIM:618089
HP:0012758	Neurodevelopmental delay	93627	TBCK	OMIM:616900
HP:0012758	Neurodevelopmental delay	93627	TBCK	ORPHA:488632
HP:0012758	Neurodevelopmental delay	80254	CEP63	OMIM:614728
HP:0012758	Neurodevelopmental delay	57531	HACE1	ORPHA:464282
HP:0012758	Neurodevelopmental delay	84823	LMNB2	OMIM:619180
HP:0012758	Neurodevelopmental delay	23036	ZNF292	OMIM:619188
HP:0012758	Neurodevelopmental delay	23314	SATB2	OMIM:612313
HP:0012758	Neurodevelopmental delay	23314	SATB2	ORPHA:251019
HP:0012758	Neurodevelopmental delay	54872	PIGG	OMIM:616917
HP:0012758	Neurodevelopmental delay	54872	PIGG	ORPHA:488635
HP:0012758	Neurodevelopmental delay	175	AGA	ORPHA:93
HP:0012758	Neurodevelopmental delay	175	AGA	OMIM:208400
HP:0012758	Neurodevelopmental delay	3192	HNRNPU	ORPHA:238769
HP:0012758	Neurodevelopmental delay	2903	GRIN2A	OMIM:245570
HP:0012758	Neurodevelopmental delay	2903	GRIN2A	ORPHA:163721
HP:0012758	Neurodevelopmental delay	5063	PAK3	OMIM:300558
HP:0012758	Neurodevelopmental delay	27286	SRPX2	ORPHA:163721
HP:0012758	Neurodevelopmental delay	27286	SRPX2	ORPHA:98889
HP:0012758	Neurodevelopmental delay	3211	HOXB1	OMIM:614744
HP:0012758	Neurodevelopmental delay	773	CACNA1A	ORPHA:2131
HP:0012758	Neurodevelopmental delay	773	CACNA1A	ORPHA:442835
HP:0012758	Neurodevelopmental delay	477	ATP1A2	ORPHA:2131
HP:0012758	Neurodevelopmental delay	477	ATP1A2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	84720	PIGO	OMIM:614749
HP:0012758	Neurodevelopmental delay	8085	KMT2D	OMIM:620186
HP:0012758	Neurodevelopmental delay	283209	PGM2L1	OMIM:620191
HP:0012758	Neurodevelopmental delay	79228	THOC6	ORPHA:363444
HP:0012758	Neurodevelopmental delay	182	JAG1	OMIM:118450
HP:0012758	Neurodevelopmental delay	10472	ZBTB18	OMIM:612337
HP:0012758	Neurodevelopmental delay	34	ACADM	ORPHA:42
HP:0012758	Neurodevelopmental delay	55084	SOBP	OMIM:613671
HP:0012758	Neurodevelopmental delay	2146	EZH2	OMIM:277590
HP:0012758	Neurodevelopmental delay	81887	LAS1L	OMIM:309585
HP:0012758	Neurodevelopmental delay	6567	SLC16A2	ORPHA:59
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	ORPHA:71277
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	OMIM:606777
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	8243	SMC1A	OMIM:301044
HP:0012758	Neurodevelopmental delay	124997	WDR81	OMIM:610185
HP:0012758	Neurodevelopmental delay	8733	GPAA1	OMIM:617810
HP:0012758	Neurodevelopmental delay	8733	GPAA1	ORPHA:529665
HP:0012758	Neurodevelopmental delay	89891	DYNC2I2	OMIM:615633
HP:0012758	Neurodevelopmental delay	132	ADK	OMIM:614300
HP:0012758	Neurodevelopmental delay	3981	LIG4	OMIM:606593
HP:0012758	Neurodevelopmental delay	26580	BSCL2	ORPHA:363400
HP:0012758	Neurodevelopmental delay	26580	BSCL2	OMIM:615924
HP:0012758	Neurodevelopmental delay	2782	GNB1	OMIM:616973
HP:0012758	Neurodevelopmental delay	2891	GRIA2	OMIM:618917
HP:0012758	Neurodevelopmental delay	90161	HS6ST2	OMIM:301025
HP:0012758	Neurodevelopmental delay	4694	NDUFA1	OMIM:301020
HP:0012758	Neurodevelopmental delay	10735	STAG2	OMIM:301022
HP:0012758	Neurodevelopmental delay	55906	ZC4H2	OMIM:314580
HP:0012758	Neurodevelopmental delay	63035	BCORL1	OMIM:301029
HP:0012758	Neurodevelopmental delay	79947	DHDDS	OMIM:617836
HP:0012758	Neurodevelopmental delay	79947	DHDDS	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6678	SPARC	OMIM:616507
HP:0012758	Neurodevelopmental delay	10943	MSL3	OMIM:301032
HP:0012758	Neurodevelopmental delay	56479	KCNQ5	OMIM:617601
HP:0012758	Neurodevelopmental delay	128637	TBC1D20	OMIM:615663
HP:0012758	Neurodevelopmental delay	9343	EFTUD2	ORPHA:79113
HP:0012758	Neurodevelopmental delay	9343	EFTUD2	OMIM:610536
HP:0012758	Neurodevelopmental delay	10664	CTCF	ORPHA:363611
HP:0012758	Neurodevelopmental delay	8270	LAGE3	OMIM:301006
HP:0012758	Neurodevelopmental delay	22866	CNKSR2	OMIM:301008
HP:0012758	Neurodevelopmental delay	22866	CNKSR2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	79853	TM4SF20	OMIM:615432
HP:0012758	Neurodevelopmental delay	117581	TWIST2	OMIM:209885
HP:0012758	Neurodevelopmental delay	117581	TWIST2	OMIM:200110
HP:0012758	Neurodevelopmental delay	117581	TWIST2	ORPHA:920
HP:0012758	Neurodevelopmental delay	23040	MYT1L	OMIM:616521
HP:0012758	Neurodevelopmental delay	26503	SLC17A5	OMIM:604369
HP:0012758	Neurodevelopmental delay	80210	ARMC9	OMIM:617622
HP:0012758	Neurodevelopmental delay	81562	LMAN2L	OMIM:617863
HP:0012758	Neurodevelopmental delay	139285	AMER1	OMIM:300373
HP:0012758	Neurodevelopmental delay	54888	NSUN2	OMIM:611091
HP:0012758	Neurodevelopmental delay	54802	TRIT1	OMIM:617873
HP:0012758	Neurodevelopmental delay	7518	XRCC4	OMIM:616541
HP:0012758	Neurodevelopmental delay	10274	STAG1	OMIM:617635
HP:0012758	Neurodevelopmental delay	51317	PHF21A	OMIM:618725
HP:0012758	Neurodevelopmental delay	2806	GOT2	OMIM:618721
HP:0012758	Neurodevelopmental delay	1788	DNMT3A	OMIM:618724
HP:0012758	Neurodevelopmental delay	3778	KCNMA1	OMIM:618729
HP:0012758	Neurodevelopmental delay	3778	KCNMA1	OMIM:617643
HP:0012758	Neurodevelopmental delay	5144	PDE4D	ORPHA:280651
HP:0012758	Neurodevelopmental delay	5144	PDE4D	OMIM:614613
HP:0012758	Neurodevelopmental delay	2182	ACSL4	OMIM:300387
HP:0012758	Neurodevelopmental delay	9699	RIMS2	OMIM:618970
HP:0012758	Neurodevelopmental delay	1968	EIF2S3	OMIM:300148
HP:0012758	Neurodevelopmental delay	672	BRCA1	OMIM:617883
HP:0012758	Neurodevelopmental delay	157657	CFAP418	OMIM:617406
HP:0012758	Neurodevelopmental delay	9524	TECR	OMIM:614020
HP:0012758	Neurodevelopmental delay	23446	SLC44A1	OMIM:618868
HP:0012758	Neurodevelopmental delay	6873	TAF2	OMIM:615599
HP:0012758	Neurodevelopmental delay	2895	GRID2	OMIM:616204
HP:0012758	Neurodevelopmental delay	2972	BRF1	OMIM:616202
HP:0012758	Neurodevelopmental delay	1630	DCC	OMIM:617542
HP:0012758	Neurodevelopmental delay	51111	KMT5B	OMIM:617788
HP:0012758	Neurodevelopmental delay	472	ATM	OMIM:208900
HP:0012758	Neurodevelopmental delay	10501	SEMA6B	OMIM:618876
HP:0012758	Neurodevelopmental delay	8309	ACOX2	OMIM:617308
HP:0012758	Neurodevelopmental delay	57156	TMEM63C	OMIM:619966
HP:0012758	Neurodevelopmental delay	27102	EIF2AK1	OMIM:618878
HP:0012758	Neurodevelopmental delay	5189	PEX1	OMIM:214100
HP:0012758	Neurodevelopmental delay	5189	PEX1	OMIM:601539
HP:0012758	Neurodevelopmental delay	137492	VPS37A	ORPHA:319199
HP:0012758	Neurodevelopmental delay	137492	VPS37A	OMIM:614898
HP:0012758	Neurodevelopmental delay	83696	TRAPPC9	OMIM:613192
HP:0012758	Neurodevelopmental delay	55870	ASH1L	OMIM:617796
HP:0012758	Neurodevelopmental delay	816	CAMK2B	OMIM:617799
HP:0012758	Neurodevelopmental delay	815	CAMK2A	OMIM:617798
HP:0012758	Neurodevelopmental delay	23184	MESD	OMIM:618644
HP:0012758	Neurodevelopmental delay	8560	DEGS1	OMIM:618404
HP:0012758	Neurodevelopmental delay	8726	EED	OMIM:617561
HP:0012758	Neurodevelopmental delay	10715	CERS1	OMIM:616230
HP:0012758	Neurodevelopmental delay	1656	DDX6	OMIM:618653
HP:0012758	Neurodevelopmental delay	2744	GLS	OMIM:618412
HP:0012758	Neurodevelopmental delay	4297	KMT2A	ORPHA:319182
HP:0012758	Neurodevelopmental delay	4297	KMT2A	OMIM:605130
HP:0012758	Neurodevelopmental delay	55714	TENM3	OMIM:615145
HP:0012758	Neurodevelopmental delay	83636	C19orf12	OMIM:614298
HP:0012758	Neurodevelopmental delay	3737	KCNA2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1759	DNM1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10991	SLC38A3	ORPHA:442835
HP:0012758	Neurodevelopmental delay	22906	TRAK1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2566	GABRG2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1917	EEF1A2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1917	EEF1A2	OMIM:616409
HP:0012758	Neurodevelopmental delay	2561	GABRB2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	7532	YWHAG	ORPHA:442835
HP:0012758	Neurodevelopmental delay	79876	UBA5	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6328	SCN3A	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6328	SCN3A	OMIM:617935
HP:0012758	Neurodevelopmental delay	781	CACNA2D1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2906	GRIN2D	ORPHA:442835
HP:0012758	Neurodevelopmental delay	774	CACNA1B	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1213	CLTC	ORPHA:442835
HP:0012758	Neurodevelopmental delay	23334	SZT2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	51412	ACTL6B	ORPHA:442835
HP:0012758	Neurodevelopmental delay	348980	HCN1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	348980	HCN1	OMIM:618482
HP:0012758	Neurodevelopmental delay	6506	SLC1A2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	8867	SYNJ1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2258	FGF13	ORPHA:442835
HP:0012758	Neurodevelopmental delay	3745	KCNB1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	284111	SLC13A5	ORPHA:442835
HP:0012758	Neurodevelopmental delay	25977	NECAP1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	16	AARS1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	9568	GABBR2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2555	GABRA2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	55152	DALRD3	ORPHA:442835
HP:0012758	Neurodevelopmental delay	26999	CYFIP2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	4915	NTRK2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	25973	PARS2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	23097	CDK19	ORPHA:442835
HP:0012758	Neurodevelopmental delay	64801	ARV1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2257	FGF12	ORPHA:442835
HP:0012758	Neurodevelopmental delay	5530	PPP3CA	ORPHA:442835
HP:0012758	Neurodevelopmental delay	55623	THUMPD1	OMIM:619989
HP:0012758	Neurodevelopmental delay	56006	SMG9	OMIM:619995
HP:0012758	Neurodevelopmental delay	29081	METTL5	OMIM:618665
HP:0012758	Neurodevelopmental delay	10717	AP4B1	OMIM:614066
HP:0012758	Neurodevelopmental delay	54914	FOCAD	OMIM:619991
HP:0012758	Neurodevelopmental delay	8363	H4C11	OMIM:619759
HP:0012758	Neurodevelopmental delay	6899	TBX1	ORPHA:1727
HP:0012758	Neurodevelopmental delay	6899	TBX1	OMIM:188400
HP:0012758	Neurodevelopmental delay	26137	ZBTB20	OMIM:259050
HP:0012758	Neurodevelopmental delay	10021	HCN4	OMIM:619521
HP:0012758	Neurodevelopmental delay	7750	ZMYM2	OMIM:619522
HP:0012758	Neurodevelopmental delay	2720	GLB1	OMIM:230650
HP:0012758	Neurodevelopmental delay	256471	MFSD8	OMIM:610951
HP:0012758	Neurodevelopmental delay	9338	TCEAL1	OMIM:301094
HP:0012758	Neurodevelopmental delay	7030	TFE3	OMIM:301066
HP:0012758	Neurodevelopmental delay	10463	SLC30A9	OMIM:617595
HP:0012758	Neurodevelopmental delay	1107	CHD3	OMIM:618205
HP:0012758	Neurodevelopmental delay	79087	ALG12	ORPHA:79324
HP:0012758	Neurodevelopmental delay	1173	AP2M1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	1106	CHD2	ORPHA:1942
HP:0012758	Neurodevelopmental delay	6529	SLC6A1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	25981	DNAH1	ORPHA:244
HP:0012758	Neurodevelopmental delay	115948	ODAD3	ORPHA:244
HP:0012758	Neurodevelopmental delay	54768	HYDIN	ORPHA:244
HP:0012758	Neurodevelopmental delay	352909	DNAAF3	ORPHA:244
HP:0012758	Neurodevelopmental delay	27148	STK36	ORPHA:244
HP:0012758	Neurodevelopmental delay	51314	NME8	ORPHA:244
HP:0012758	Neurodevelopmental delay	92749	DRC1	ORPHA:244
HP:0012758	Neurodevelopmental delay	54970	TTC12	ORPHA:244
HP:0012758	Neurodevelopmental delay	152110	NEK10	ORPHA:244
HP:0012758	Neurodevelopmental delay	8481	OFD1	ORPHA:244
HP:0012758	Neurodevelopmental delay	2302	FOXJ1	ORPHA:244
HP:0012758	Neurodevelopmental delay	221421	RSPH9	ORPHA:244
HP:0012758	Neurodevelopmental delay	85478	CCDC65	ORPHA:244
HP:0012758	Neurodevelopmental delay	55036	CCDC40	ORPHA:244
HP:0012758	Neurodevelopmental delay	51364	ZMYND10	ORPHA:244
HP:0012758	Neurodevelopmental delay	64446	DNAI2	ORPHA:244
HP:0012758	Neurodevelopmental delay	6674	SPAG1	ORPHA:244
HP:0012758	Neurodevelopmental delay	83544	DNAL1	ORPHA:244
HP:0012758	Neurodevelopmental delay	89765	RSPH1	ORPHA:244
HP:0012758	Neurodevelopmental delay	83538	ODAD4	ORPHA:244
HP:0012758	Neurodevelopmental delay	200373	CFAP221	ORPHA:244
HP:0012758	Neurodevelopmental delay	374407	DNAJB13	ORPHA:244
HP:0012758	Neurodevelopmental delay	55172	DNAAF2	ORPHA:244
HP:0012758	Neurodevelopmental delay	161582	DNAAF4	ORPHA:244
HP:0012758	Neurodevelopmental delay	2622	GAS8	ORPHA:244
HP:0012758	Neurodevelopmental delay	23639	DNAAF11	ORPHA:244
HP:0012758	Neurodevelopmental delay	27019	DNAI1	ORPHA:244
HP:0012758	Neurodevelopmental delay	345895	RSPH4A	ORPHA:244
HP:0012758	Neurodevelopmental delay	54919	DNAAF5	ORPHA:244
HP:0012758	Neurodevelopmental delay	6103	RPGR	ORPHA:244
HP:0012758	Neurodevelopmental delay	388389	CCDC103	ORPHA:244
HP:0012758	Neurodevelopmental delay	93233	ODAD1	ORPHA:244
HP:0012758	Neurodevelopmental delay	55130	ODAD2	ORPHA:244
HP:0012758	Neurodevelopmental delay	1767	DNAH5	ORPHA:244
HP:0012758	Neurodevelopmental delay	83861	RSPH3	ORPHA:244
HP:0012758	Neurodevelopmental delay	345643	MCIDAS	ORPHA:244
HP:0012758	Neurodevelopmental delay	56683	CFAP298	ORPHA:244
HP:0012758	Neurodevelopmental delay	79925	SPEF2	ORPHA:244
HP:0012758	Neurodevelopmental delay	10309	CCNO	ORPHA:244
HP:0012758	Neurodevelopmental delay	115399	LRRC56	ORPHA:244
HP:0012758	Neurodevelopmental delay	139212	DNAAF6	ORPHA:244
HP:0012758	Neurodevelopmental delay	123872	DNAAF1	ORPHA:244
HP:0012758	Neurodevelopmental delay	85016	CFAP300	ORPHA:244
HP:0012758	Neurodevelopmental delay	339829	CCDC39	ORPHA:244
HP:0012758	Neurodevelopmental delay	8701	DNAH11	ORPHA:244
HP:0012758	Neurodevelopmental delay	1770	DNAH9	ORPHA:244
HP:0012758	Neurodevelopmental delay	246176	GAS2L2	ORPHA:244
HP:0012758	Neurodevelopmental delay	10262	SF3B4	ORPHA:245
HP:0012758	Neurodevelopmental delay	10262	SF3B4	OMIM:154400
HP:0012758	Neurodevelopmental delay	2742	GLRA2	OMIM:301076
HP:0012758	Neurodevelopmental delay	26100	WIPI2	OMIM:618453
HP:0012758	Neurodevelopmental delay	5587	PRKD1	OMIM:617364
HP:0012758	Neurodevelopmental delay	8905	AP1S2	OMIM:304340
HP:0012758	Neurodevelopmental delay	55217	TMLHE	OMIM:300872
HP:0012758	Neurodevelopmental delay	5898	RALA	OMIM:619311
HP:0012758	Neurodevelopmental delay	30000	TNPO2	OMIM:619556
HP:0012758	Neurodevelopmental delay	57102	C12orf4	OMIM:618221
HP:0012758	Neurodevelopmental delay	55628	ZNF407	OMIM:619557
HP:0012758	Neurodevelopmental delay	1387	CREBBP	ORPHA:353281
HP:0012758	Neurodevelopmental delay	1387	CREBBP	OMIM:180849
HP:0012758	Neurodevelopmental delay	1387	CREBBP	ORPHA:353277
HP:0012758	Neurodevelopmental delay	56521	DNAJC12	OMIM:617384
HP:0012758	Neurodevelopmental delay	3714	JAG2	OMIM:619566
HP:0012758	Neurodevelopmental delay	1725	DHPS	OMIM:618480
HP:0012758	Neurodevelopmental delay	79641	ROGDI	OMIM:226750
HP:0012758	Neurodevelopmental delay	54496	PRMT7	OMIM:617157
HP:0012758	Neurodevelopmental delay	84188	FAR1	OMIM:619338
HP:0012758	Neurodevelopmental delay	9969	MED13	OMIM:618009
HP:0012758	Neurodevelopmental delay	92344	GORAB	OMIM:231070
HP:0012758	Neurodevelopmental delay	23203	PMPCA	OMIM:213200
HP:0012758	Neurodevelopmental delay	23203	PMPCA	ORPHA:1170
HP:0012758	Neurodevelopmental delay	7319	UBE2A	OMIM:300860
HP:0012758	Neurodevelopmental delay	23592	LEMD3	ORPHA:94063
HP:0012758	Neurodevelopmental delay	22808	MRAS	OMIM:618499
HP:0012758	Neurodevelopmental delay	8635	RNASET2	OMIM:612951
HP:0012758	Neurodevelopmental delay	80185	TTI2	ORPHA:391307
HP:0012758	Neurodevelopmental delay	80185	TTI2	OMIM:615541
HP:0012758	Neurodevelopmental delay	2628	GATM	OMIM:612718
HP:0012758	Neurodevelopmental delay	6611	SMS	ORPHA:3063
HP:0012758	Neurodevelopmental delay	7068	THRB	OMIM:188570
HP:0012758	Neurodevelopmental delay	35	ACADS	OMIM:201470
HP:0012758	Neurodevelopmental delay	35	ACADS	ORPHA:26792
HP:0012758	Neurodevelopmental delay	10847	SRCAP	OMIM:619595
HP:0012758	Neurodevelopmental delay	10847	SRCAP	ORPHA:2044
HP:0012758	Neurodevelopmental delay	10847	SRCAP	OMIM:136140
HP:0012758	Neurodevelopmental delay	79005	SCNM1	OMIM:620107
HP:0012758	Neurodevelopmental delay	55210	ATAD3A	OMIM:617183
HP:0012758	Neurodevelopmental delay	2077	ERF	OMIM:617180
HP:0012758	Neurodevelopmental delay	2077	ERF	OMIM:600775
HP:0012758	Neurodevelopmental delay	29123	ANKRD11	ORPHA:261250
HP:0012758	Neurodevelopmental delay	1200	TPP1	OMIM:204500
HP:0012758	Neurodevelopmental delay	2593	GAMT	OMIM:612736
HP:0012758	Neurodevelopmental delay	55252	ASXL2	OMIM:617190
HP:0012758	Neurodevelopmental delay	6904	TBCD	OMIM:617193
HP:0012758	Neurodevelopmental delay	4508	MT-ATP6	ORPHA:225154
HP:0012758	Neurodevelopmental delay	23636	NUP62	ORPHA:225154
HP:0012758	Neurodevelopmental delay	103	ADAR	ORPHA:225154
HP:0012758	Neurodevelopmental delay	3739	KCNA4	OMIM:618284
HP:0012758	Neurodevelopmental delay	23154	NCDN	OMIM:619373
HP:0012758	Neurodevelopmental delay	55074	OXR1	OMIM:213000
HP:0012758	Neurodevelopmental delay	221927	BRAT1	OMIM:618056
HP:0012758	Neurodevelopmental delay	64858	DCLRE1B	OMIM:620133
HP:0012758	Neurodevelopmental delay	10128	LRPPRC	OMIM:220111
HP:0012758	Neurodevelopmental delay	158	ADSL	OMIM:103050
HP:0012758	Neurodevelopmental delay	375	ARF1	OMIM:618185
HP:0012758	Neurodevelopmental delay	7109	TRAPPC10	OMIM:620027
HP:0012758	Neurodevelopmental delay	132158	GLYCTK	ORPHA:941
HP:0012758	Neurodevelopmental delay	501	ALDH7A1	OMIM:266100
HP:0012758	Neurodevelopmental delay	25914	RTTN	OMIM:614833
HP:0012758	Neurodevelopmental delay	7102	TSPAN7	OMIM:300210
HP:0012758	Neurodevelopmental delay	57492	ARID1B	OMIM:135900
HP:0012758	Neurodevelopmental delay	116228	COX20	OMIM:619054
HP:0012758	Neurodevelopmental delay	26277	TINF2	OMIM:613990
HP:0012758	Neurodevelopmental delay	340024	SLC6A19	OMIM:234500
HP:0012758	Neurodevelopmental delay	8289	ARID1A	OMIM:614607
HP:0012758	Neurodevelopmental delay	10716	TBR1	OMIM:606053
HP:0012758	Neurodevelopmental delay	5230	PGK1	ORPHA:713
HP:0012758	Neurodevelopmental delay	5230	PGK1	OMIM:300653
HP:0012758	Neurodevelopmental delay	2615	LRRC32	OMIM:619074
HP:0012758	Neurodevelopmental delay	4953	ODC1	OMIM:619075
HP:0012758	Neurodevelopmental delay	5594	MAPK1	OMIM:619087
HP:0012758	Neurodevelopmental delay	286262	TPRN	OMIM:613307
HP:0012758	Neurodevelopmental delay	51244	CCDC174	OMIM:616816
HP:0012758	Neurodevelopmental delay	54862	CC2D1A	OMIM:608443
HP:0012758	Neurodevelopmental delay	23065	EMC1	ORPHA:480898
HP:0012758	Neurodevelopmental delay	23065	EMC1	OMIM:616875
HP:0012758	Neurodevelopmental delay	11152	WDR45	OMIM:300894
HP:0012758	Neurodevelopmental delay	5295	PIK3R1	OMIM:269880
HP:0012758	Neurodevelopmental delay	50484	RRM2B	OMIM:268315
HP:0012758	Neurodevelopmental delay	254065	BRWD3	OMIM:300659
HP:0012758	Neurodevelopmental delay	9147	NEMF	OMIM:619099
HP:0012758	Neurodevelopmental delay	197322	ACSF3	ORPHA:289504
HP:0012758	Neurodevelopmental delay	54413	NLGN3	OMIM:300425
HP:0012758	Neurodevelopmental delay	9775	EIF4A3	OMIM:268305
HP:0012758	Neurodevelopmental delay	93183	PIGM	OMIM:610293
HP:0012758	Neurodevelopmental delay	2702	GJA5	OMIM:612474
HP:0012758	Neurodevelopmental delay	2703	GJA8	OMIM:612474
HP:0012758	Neurodevelopmental delay	867	CBL	OMIM:613563
HP:0012758	Neurodevelopmental delay	29072	SETD2	OMIM:616831
HP:0012758	Neurodevelopmental delay	3897	L1CAM	ORPHA:2466
HP:0012758	Neurodevelopmental delay	27241	BBS9	OMIM:615986
HP:0012758	Neurodevelopmental delay	27152	INTU	OMIM:617926
HP:0012758	Neurodevelopmental delay	9158	FIBP	ORPHA:500095
HP:0012758	Neurodevelopmental delay	4683	NBN	OMIM:251260
HP:0012758	Neurodevelopmental delay	29926	GMPPA	OMIM:615510
HP:0012758	Neurodevelopmental delay	658	BMPR1B	OMIM:616849
HP:0012758	Neurodevelopmental delay	57511	COG6	ORPHA:363523
HP:0012758	Neurodevelopmental delay	57511	COG6	OMIM:615328
HP:0012758	Neurodevelopmental delay	113179	ADAT3	ORPHA:363528
HP:0012758	Neurodevelopmental delay	55784	MCTP2	ORPHA:1596
HP:0012758	Neurodevelopmental delay	5831	PYCR1	OMIM:614438
HP:0012758	Neurodevelopmental delay	26224	FBXL3	OMIM:606220
HP:0012758	Neurodevelopmental delay	2592	GALT	ORPHA:79239
HP:0012758	Neurodevelopmental delay	10484	SEC23A	ORPHA:50814
HP:0012758	Neurodevelopmental delay	7874	USP7	OMIM:616863
HP:0012758	Neurodevelopmental delay	7874	USP7	ORPHA:500055
HP:0012758	Neurodevelopmental delay	64131	XYLT1	OMIM:615777
HP:0012758	Neurodevelopmental delay	54664	TMEM106B	OMIM:617964
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276238
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276244
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276241
HP:0012758	Neurodevelopmental delay	27010	TPK1	OMIM:614458
HP:0012758	Neurodevelopmental delay	55644	OSGEP	OMIM:617729
HP:0012758	Neurodevelopmental delay	57572	DOCK6	OMIM:614219
HP:0012758	Neurodevelopmental delay	54658	UGT1A1	ORPHA:79234
HP:0012758	Neurodevelopmental delay	7074	TIAM1	OMIM:619908
HP:0012758	Neurodevelopmental delay	2464	FRA16E	OMIM:136570
HP:0012758	Neurodevelopmental delay	112858	TP53RK	OMIM:617730
HP:0012758	Neurodevelopmental delay	4929	NR4A2	OMIM:619911
HP:0012758	Neurodevelopmental delay	54805	CNNM2	OMIM:616418
HP:0012758	Neurodevelopmental delay	5500	PPP1CB	OMIM:617506
HP:0012758	Neurodevelopmental delay	7291	TWIST1	OMIM:617746
HP:0012758	Neurodevelopmental delay	57502	NLGN4X	OMIM:300495
HP:0012758	Neurodevelopmental delay	4047	LSS	OMIM:618840
HP:0012758	Neurodevelopmental delay	5455	POU3F3	OMIM:618604
HP:0012758	Neurodevelopmental delay	1807	DPYS	OMIM:222748
HP:0012758	Neurodevelopmental delay	2639	GCDH	OMIM:231670
HP:0012758	Neurodevelopmental delay	23133	PHF8	OMIM:300263
HP:0012758	Neurodevelopmental delay	84706	GPT2	ORPHA:477673
HP:0012758	Neurodevelopmental delay	8738	CRADD	OMIM:614499
HP:0012758	Neurodevelopmental delay	547	KIF1A	OMIM:614255
HP:0012758	Neurodevelopmental delay	2582	GALE	OMIM:230350
HP:0012758	Neurodevelopmental delay	1718	DHCR24	OMIM:602398
HP:0012758	Neurodevelopmental delay	4524	MTHFR	ORPHA:395
HP:0012758	Neurodevelopmental delay	4524	MTHFR	OMIM:236250
HP:0012758	Neurodevelopmental delay	51399	TRAPPC4	OMIM:618741
HP:0012758	Neurodevelopmental delay	1139	CHRNA7	ORPHA:199318
HP:0012758	Neurodevelopmental delay	8216	LZTR1	OMIM:616564
HP:0012758	Neurodevelopmental delay	8216	LZTR1	OMIM:605275
HP:0012758	Neurodevelopmental delay	7021	TFAP2B	OMIM:169100
HP:0012758	Neurodevelopmental delay	7021	TFAP2B	ORPHA:46627
HP:0012758	Neurodevelopmental delay	2317	FLNB	ORPHA:56305
HP:0012758	Neurodevelopmental delay	2073	ERCC5	OMIM:616570
HP:0012758	Neurodevelopmental delay	2073	ERCC5	ORPHA:220295
HP:0012758	Neurodevelopmental delay	2073	ERCC5	OMIM:278780
HP:0012758	Neurodevelopmental delay	6729	SRP54	OMIM:618752
HP:0012758	Neurodevelopmental delay	6729	SRP54	OMIM:260400
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	ORPHA:220497
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	OMIM:619113
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	OMIM:611560
HP:0012758	Neurodevelopmental delay	4867	NPHP1	ORPHA:220497
HP:0012758	Neurodevelopmental delay	4867	NPHP1	ORPHA:3156
HP:0012758	Neurodevelopmental delay	4867	NPHP1	OMIM:609583
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:220497
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:2318
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:475
HP:0012758	Neurodevelopmental delay	65062	TMEM237	OMIM:614424
HP:0012758	Neurodevelopmental delay	153241	CEP120	ORPHA:220493
HP:0012758	Neurodevelopmental delay	153241	CEP120	OMIM:617761
HP:0012758	Neurodevelopmental delay	153241	CEP120	ORPHA:475
HP:0012758	Neurodevelopmental delay	95681	CEP41	ORPHA:220493
HP:0012758	Neurodevelopmental delay	95681	CEP41	ORPHA:475
HP:0012758	Neurodevelopmental delay	95681	CEP41	OMIM:614464
HP:0012758	Neurodevelopmental delay	84520	GON7	OMIM:619603
HP:0012758	Neurodevelopmental delay	1161	ERCC8	OMIM:216400
HP:0012758	Neurodevelopmental delay	57589	RIC1	OMIM:618761
HP:0012758	Neurodevelopmental delay	317662	FAM149B1	OMIM:618763
HP:0012758	Neurodevelopmental delay	317662	FAM149B1	ORPHA:2754
HP:0012758	Neurodevelopmental delay	6884	TAF13	OMIM:617432
HP:0012758	Neurodevelopmental delay	6884	TAF13	ORPHA:2512
HP:0012758	Neurodevelopmental delay	2671	GFER	OMIM:613076
HP:0012758	Neurodevelopmental delay	2671	GFER	ORPHA:330054
HP:0012758	Neurodevelopmental delay	6844	VAMP2	OMIM:618760
HP:0012758	Neurodevelopmental delay	79029	AFG2B	OMIM:619616
HP:0012758	Neurodevelopmental delay	79029	AFG2B	OMIM:619615
HP:0012758	Neurodevelopmental delay	55681	SCYL2	OMIM:618766
HP:0012758	Neurodevelopmental delay	51109	RDH11	OMIM:616108
HP:0012758	Neurodevelopmental delay	51109	RDH11	ORPHA:436245
HP:0012758	Neurodevelopmental delay	790955	UQCC3	OMIM:616111
HP:0012758	Neurodevelopmental delay	63901	FAM111A	OMIM:602361
HP:0012758	Neurodevelopmental delay	673	BRAF	ORPHA:54595
HP:0012758	Neurodevelopmental delay	673	BRAF	ORPHA:500
HP:0012758	Neurodevelopmental delay	673	BRAF	ORPHA:1340
HP:0012758	Neurodevelopmental delay	54345	SOX18	OMIM:137940
HP:0012758	Neurodevelopmental delay	2746	GLUD1	ORPHA:35878
HP:0012758	Neurodevelopmental delay	5034	P4HB	OMIM:112240
HP:0012758	Neurodevelopmental delay	5034	P4HB	ORPHA:2050
HP:0012758	Neurodevelopmental delay	23512	SUZ12	OMIM:618786
HP:0012758	Neurodevelopmental delay	23512	SUZ12	ORPHA:3447
HP:0012758	Neurodevelopmental delay	3845	KRAS	OMIM:615278
HP:0012758	Neurodevelopmental delay	3845	KRAS	ORPHA:2396
HP:0012758	Neurodevelopmental delay	3845	KRAS	OMIM:600268
HP:0012758	Neurodevelopmental delay	3845	KRAS	ORPHA:1340
HP:0012758	Neurodevelopmental delay	3845	KRAS	OMIM:609942
HP:0012758	Neurodevelopmental delay	5604	MAP2K1	OMIM:615279
HP:0012758	Neurodevelopmental delay	5604	MAP2K1	ORPHA:1340
HP:0012758	Neurodevelopmental delay	2517	FUCA1	ORPHA:349
HP:0012758	Neurodevelopmental delay	2517	FUCA1	OMIM:230000
HP:0012758	Neurodevelopmental delay	4598	MVK	ORPHA:343
HP:0012758	Neurodevelopmental delay	4598	MVK	ORPHA:29
HP:0012758	Neurodevelopmental delay	4598	MVK	OMIM:610377
HP:0012758	Neurodevelopmental delay	5605	MAP2K2	OMIM:615280
HP:0012758	Neurodevelopmental delay	5605	MAP2K2	ORPHA:1340
HP:0012758	Neurodevelopmental delay	57169	ZNFX1	OMIM:619644
HP:0012758	Neurodevelopmental delay	11041	B4GAT1	OMIM:615287
HP:0012758	Neurodevelopmental delay	11041	B4GAT1	ORPHA:899
HP:0012758	Neurodevelopmental delay	11311	VPS45	OMIM:615285
HP:0012758	Neurodevelopmental delay	2263	FGFR2	OMIM:123790
HP:0012758	Neurodevelopmental delay	2263	FGFR2	ORPHA:93259
HP:0012758	Neurodevelopmental delay	2263	FGFR2	ORPHA:2363
HP:0012758	Neurodevelopmental delay	476	ATP1A1	OMIM:618314
HP:0012758	Neurodevelopmental delay	476	ATP1A1	ORPHA:564178
HP:0012758	Neurodevelopmental delay	57609	DIP2B	OMIM:136630
HP:0012758	Neurodevelopmental delay	197258	FCSK	OMIM:618324
HP:0012758	Neurodevelopmental delay	23483	TGDS	OMIM:616145
HP:0012758	Neurodevelopmental delay	6603	SMARCD2	OMIM:617475
HP:0012758	Neurodevelopmental delay	125988	MICOS13	OMIM:618329
HP:0012758	Neurodevelopmental delay	4087	SMAD2	OMIM:619657
HP:0012758	Neurodevelopmental delay	6448	SGSH	OMIM:252900
HP:0012758	Neurodevelopmental delay	10564	ARFGEF2	OMIM:608097
HP:0012758	Neurodevelopmental delay	55746	NUP133	OMIM:618349
HP:0012758	Neurodevelopmental delay	55746	NUP133	ORPHA:2065
HP:0012758	Neurodevelopmental delay	51259	TMEM216	OMIM:608091
HP:0012758	Neurodevelopmental delay	51259	TMEM216	ORPHA:2318
HP:0012758	Neurodevelopmental delay	51259	TMEM216	ORPHA:2754
HP:0012758	Neurodevelopmental delay	959	CD40LG	OMIM:308230
HP:0012758	Neurodevelopmental delay	1950	EGF	OMIM:611718
HP:0012758	Neurodevelopmental delay	5095	PCCA	ORPHA:35
HP:0012758	Neurodevelopmental delay	5095	PCCA	OMIM:606054
HP:0012758	Neurodevelopmental delay	5096	PCCB	ORPHA:35
HP:0012758	Neurodevelopmental delay	5096	PCCB	OMIM:606054
HP:0012758	Neurodevelopmental delay	56945	MRPS22	OMIM:611719
HP:0012758	Neurodevelopmental delay	27125	AFF4	ORPHA:444077
HP:0012758	Neurodevelopmental delay	27125	AFF4	OMIM:616368
HP:0012758	Neurodevelopmental delay	6888	TALDO1	ORPHA:101028
HP:0012758	Neurodevelopmental delay	7372	UMPS	ORPHA:30
HP:0012758	Neurodevelopmental delay	7372	UMPS	OMIM:258900
HP:0012758	Neurodevelopmental delay	3712	IVD	ORPHA:33
HP:0012758	Neurodevelopmental delay	3712	IVD	OMIM:243500
HP:0012758	Neurodevelopmental delay	79709	COLGALT1	OMIM:618360
HP:0012758	Neurodevelopmental delay	84068	SLC10A7	OMIM:618363
HP:0012758	Neurodevelopmental delay	7468	NSD2	OMIM:619695
HP:0012758	Neurodevelopmental delay	7468	NSD2	OMIM:194190
HP:0012758	Neurodevelopmental delay	7468	NSD2	ORPHA:280
HP:0012758	Neurodevelopmental delay	3054	HCFC1	OMIM:309541
HP:0012758	Neurodevelopmental delay	819	CAMLG	OMIM:620201
HP:0012758	Neurodevelopmental delay	84705	GTPBP3	OMIM:616198
HP:0012758	Neurodevelopmental delay	84705	GTPBP3	ORPHA:444013
HP:0012758	Neurodevelopmental delay	51729	WBP11	OMIM:619227
HP:0012758	Neurodevelopmental delay	8883	NAE1	OMIM:620210
HP:0012758	Neurodevelopmental delay	65260	COA7	OMIM:618387
HP:0012758	Neurodevelopmental delay	435	ASL	OMIM:207900
HP:0012758	Neurodevelopmental delay	158326	FREM1	OMIM:248450
HP:0012758	Neurodevelopmental delay	158326	FREM1	OMIM:614485
HP:0012758	Neurodevelopmental delay	8318	CDC45	OMIM:617063
HP:0012758	Neurodevelopmental delay	8318	CDC45	ORPHA:2554
HP:0012758	Neurodevelopmental delay	9326	ZNHIT3	OMIM:260565
HP:0012758	Neurodevelopmental delay	9326	ZNHIT3	ORPHA:2836
HP:0012758	Neurodevelopmental delay	55640	FLVCR2	OMIM:225790
HP:0012758	Neurodevelopmental delay	84919	PPP1R15B	ORPHA:391408
HP:0012758	Neurodevelopmental delay	55670	PEX26	ORPHA:772
HP:0012758	Neurodevelopmental delay	55670	PEX26	OMIM:614873
HP:0012758	Neurodevelopmental delay	5824	PEX19	ORPHA:772
HP:0012758	Neurodevelopmental delay	5824	PEX19	OMIM:614886
HP:0012758	Neurodevelopmental delay	5828	PEX2	ORPHA:772
HP:0012758	Neurodevelopmental delay	5828	PEX2	OMIM:614866
HP:0012758	Neurodevelopmental delay	5828	PEX2	OMIM:614867
HP:0012758	Neurodevelopmental delay	8504	PEX3	ORPHA:772
HP:0012758	Neurodevelopmental delay	8504	PEX3	OMIM:617370
HP:0012758	Neurodevelopmental delay	9409	PEX16	ORPHA:772
HP:0012758	Neurodevelopmental delay	9409	PEX16	OMIM:614877
HP:0012758	Neurodevelopmental delay	5190	PEX6	ORPHA:772
HP:0012758	Neurodevelopmental delay	5190	PEX6	OMIM:614863
HP:0012758	Neurodevelopmental delay	5190	PEX6	OMIM:616617
HP:0012758	Neurodevelopmental delay	8799	PEX11B	ORPHA:772
HP:0012758	Neurodevelopmental delay	5830	PEX5	ORPHA:772
HP:0012758	Neurodevelopmental delay	5830	PEX5	OMIM:616716
HP:0012758	Neurodevelopmental delay	5193	PEX12	ORPHA:772
HP:0012758	Neurodevelopmental delay	5193	PEX12	OMIM:266510
HP:0012758	Neurodevelopmental delay	5194	PEX13	ORPHA:772
HP:0012758	Neurodevelopmental delay	5194	PEX13	OMIM:614883
HP:0012758	Neurodevelopmental delay	5195	PEX14	ORPHA:772
HP:0012758	Neurodevelopmental delay	5192	PEX10	ORPHA:772
HP:0012758	Neurodevelopmental delay	5192	PEX10	ORPHA:247815
HP:0012758	Neurodevelopmental delay	5192	PEX10	OMIM:614871
HP:0012758	Neurodevelopmental delay	201595	STT3B	ORPHA:370924
HP:0012758	Neurodevelopmental delay	201595	STT3B	OMIM:615597
HP:0012758	Neurodevelopmental delay	6748	SSR4	ORPHA:370927
HP:0012758	Neurodevelopmental delay	6748	SSR4	OMIM:300934
HP:0012758	Neurodevelopmental delay	10084	PQBP1	OMIM:309500
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93950
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93945
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93946
HP:0012758	Neurodevelopmental delay	10273	STUB1	ORPHA:412057
HP:0012758	Neurodevelopmental delay	3643	INSR	ORPHA:769
HP:0012758	Neurodevelopmental delay	3643	INSR	OMIM:262190
HP:0012758	Neurodevelopmental delay	7474	WNT5A	OMIM:180700
HP:0012758	Neurodevelopmental delay	7474	WNT5A	ORPHA:3107
HP:0012758	Neurodevelopmental delay	1855	DVL1	OMIM:180700
HP:0012758	Neurodevelopmental delay	1855	DVL1	ORPHA:3107
HP:0012758	Neurodevelopmental delay	55181	SMG8	OMIM:619268
HP:0012758	Neurodevelopmental delay	27445	PCLO	OMIM:608027
HP:0012758	Neurodevelopmental delay	1373	CPS1	OMIM:237300
HP:0012758	Neurodevelopmental delay	25886	POC1A	OMIM:614813
HP:0012758	Neurodevelopmental delay	26146	TRAF3IP1	ORPHA:3156
HP:0012758	Neurodevelopmental delay	26146	TRAF3IP1	OMIM:616629
HP:0012758	Neurodevelopmental delay	9657	IQCB1	ORPHA:3156
HP:0012758	Neurodevelopmental delay	9657	IQCB1	ORPHA:65
HP:0012758	Neurodevelopmental delay	10806	SDCCAG8	ORPHA:3156
HP:0012758	Neurodevelopmental delay	10806	SDCCAG8	OMIM:615993
HP:0012758	Neurodevelopmental delay	27130	INVS	ORPHA:3156
HP:0012758	Neurodevelopmental delay	80184	CEP290	ORPHA:3156
HP:0012758	Neurodevelopmental delay	80184	CEP290	ORPHA:65
HP:0012758	Neurodevelopmental delay	80184	CEP290	ORPHA:2318
HP:0012758	Neurodevelopmental delay	80184	CEP290	OMIM:615991
HP:0012758	Neurodevelopmental delay	80184	CEP290	OMIM:610188
HP:0012758	Neurodevelopmental delay	261734	NPHP4	ORPHA:3156
HP:0012758	Neurodevelopmental delay	57728	WDR19	ORPHA:3156
HP:0012758	Neurodevelopmental delay	27031	NPHP3	ORPHA:3156
HP:0012758	Neurodevelopmental delay	22897	CEP164	ORPHA:3156
HP:0012758	Neurodevelopmental delay	22897	CEP164	OMIM:614845
HP:0012758	Neurodevelopmental delay	128674	PROKR2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	128674	PROKR2	ORPHA:95496
HP:0012758	Neurodevelopmental delay	6657	SOX2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	6657	SOX2	OMIM:206900
HP:0012758	Neurodevelopmental delay	6657	SOX2	ORPHA:77298
HP:0012758	Neurodevelopmental delay	9915	ARNT2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	8820	HESX1	ORPHA:3157
HP:0012758	Neurodevelopmental delay	8820	HESX1	ORPHA:95496
HP:0012758	Neurodevelopmental delay	8820	HESX1	OMIM:182230
HP:0012758	Neurodevelopmental delay	5015	OTX2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	5015	OTX2	OMIM:610125
HP:0012758	Neurodevelopmental delay	168667	BMPER	OMIM:608022
HP:0012758	Neurodevelopmental delay	64374	SIL1	OMIM:248800
HP:0012758	Neurodevelopmental delay	64374	SIL1	ORPHA:559
HP:0012758	Neurodevelopmental delay	2294	FOXF1	OMIM:265380
HP:0012758	Neurodevelopmental delay	6309	SC5D	ORPHA:46059
HP:0012758	Neurodevelopmental delay	26128	KIFBP	OMIM:609460
HP:0012758	Neurodevelopmental delay	5885	RAD21	OMIM:614701
HP:0012758	Neurodevelopmental delay	25821	MTO1	OMIM:614702
HP:0012758	Neurodevelopmental delay	6165	RPL35A	OMIM:612528
HP:0012758	Neurodevelopmental delay	85300	ATCAY	ORPHA:94122
HP:0012758	Neurodevelopmental delay	85300	ATCAY	OMIM:601238
HP:0012758	Neurodevelopmental delay	613	BCR	ORPHA:261330
HP:0012758	Neurodevelopmental delay	1399	CRKL	ORPHA:261330
HP:0012758	Neurodevelopmental delay	55788	LMBRD1	OMIM:277380
HP:0012758	Neurodevelopmental delay	1717	DHCR7	ORPHA:818
HP:0012758	Neurodevelopmental delay	1717	DHCR7	OMIM:270400
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:99802
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:201
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:60040
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	OMIM:602501
HP:0012758	Neurodevelopmental delay	2475	MTOR	ORPHA:99802
HP:0012758	Neurodevelopmental delay	2475	MTOR	ORPHA:457485
HP:0012758	Neurodevelopmental delay	10000	AKT3	ORPHA:99802
HP:0012758	Neurodevelopmental delay	150468	CKAP2L	ORPHA:3255
HP:0012758	Neurodevelopmental delay	26153	KIF26A	OMIM:620156
HP:0012758	Neurodevelopmental delay	4718	NDUFC2	OMIM:619170
HP:0012758	Neurodevelopmental delay	1272	CNTN1	OMIM:612540
HP:0012758	Neurodevelopmental delay	92579	G6PC3	OMIM:612541
HP:0012758	Neurodevelopmental delay	1801	DPH1	OMIM:616901
HP:0012758	Neurodevelopmental delay	1801	DPH1	ORPHA:459061
HP:0012758	Neurodevelopmental delay	412	STS	ORPHA:281090
HP:0012758	Neurodevelopmental delay	5080	PAX6	ORPHA:1065
HP:0012758	Neurodevelopmental delay	55858	TMEM165	OMIM:614727
HP:0012758	Neurodevelopmental delay	64087	MCCC2	OMIM:210210
HP:0012758	Neurodevelopmental delay	10459	MAD2L2	ORPHA:84
HP:0012758	Neurodevelopmental delay	7516	XRCC2	ORPHA:84
HP:0012758	Neurodevelopmental delay	29089	UBE2T	ORPHA:84
HP:0012758	Neurodevelopmental delay	675	BRCA2	ORPHA:84
HP:0012758	Neurodevelopmental delay	55120	FANCL	ORPHA:84
HP:0012758	Neurodevelopmental delay	55120	FANCL	OMIM:614083
HP:0012758	Neurodevelopmental delay	2177	FANCD2	ORPHA:84
HP:0012758	Neurodevelopmental delay	2175	FANCA	ORPHA:84
HP:0012758	Neurodevelopmental delay	2187	FANCB	ORPHA:84
HP:0012758	Neurodevelopmental delay	2176	FANCC	ORPHA:84
HP:0012758	Neurodevelopmental delay	2178	FANCE	ORPHA:84
HP:0012758	Neurodevelopmental delay	2178	FANCE	OMIM:600901
HP:0012758	Neurodevelopmental delay	2189	FANCG	ORPHA:84
HP:0012758	Neurodevelopmental delay	5889	RAD51C	ORPHA:84
HP:0012758	Neurodevelopmental delay	55159	RFWD3	ORPHA:84
HP:0012758	Neurodevelopmental delay	83990	BRIP1	ORPHA:84
HP:0012758	Neurodevelopmental delay	83990	BRIP1	OMIM:609054
HP:0012758	Neurodevelopmental delay	57697	FANCM	ORPHA:84
HP:0012758	Neurodevelopmental delay	79728	PALB2	ORPHA:84
HP:0012758	Neurodevelopmental delay	84464	SLX4	ORPHA:84
HP:0012758	Neurodevelopmental delay	2072	ERCC4	ORPHA:84
HP:0012758	Neurodevelopmental delay	2072	ERCC4	ORPHA:220295
HP:0012758	Neurodevelopmental delay	55215	FANCI	ORPHA:84
HP:0012758	Neurodevelopmental delay	55215	FANCI	OMIM:609053
HP:0012758	Neurodevelopmental delay	54675	CRLS1	OMIM:620167
HP:0012758	Neurodevelopmental delay	222663	SCUBE3	OMIM:619184
HP:0012758	Neurodevelopmental delay	9184	BUB3	ORPHA:1052
HP:0012758	Neurodevelopmental delay	699	BUB1	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9702	CEP57	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9319	TRIP13	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9319	TRIP13	OMIM:617598
HP:0012758	Neurodevelopmental delay	701	BUB1B	ORPHA:1052
HP:0012758	Neurodevelopmental delay	6999	TDO2	OMIM:600627
HP:0012758	Neurodevelopmental delay	55148	UBR7	OMIM:619189
HP:0012758	Neurodevelopmental delay	56922	MCCC1	OMIM:210200
HP:0012758	Neurodevelopmental delay	63894	VIPAS39	OMIM:613404
HP:0012758	Neurodevelopmental delay	83879	CDCA7	OMIM:616910
HP:0012758	Neurodevelopmental delay	83879	CDCA7	ORPHA:2268
HP:0012758	Neurodevelopmental delay	1906	EDN1	ORPHA:137888
HP:0012758	Neurodevelopmental delay	2773	GNAI3	ORPHA:137888
HP:0012758	Neurodevelopmental delay	53834	FGFRL1	OMIM:194190
HP:0012758	Neurodevelopmental delay	3954	LETM1	OMIM:194190
HP:0012758	Neurodevelopmental delay	3954	LETM1	ORPHA:280
HP:0012758	Neurodevelopmental delay	3954	LETM1	OMIM:620089
HP:0012758	Neurodevelopmental delay	383	ARG1	ORPHA:90
HP:0012758	Neurodevelopmental delay	383	ARG1	OMIM:207800
HP:0012758	Neurodevelopmental delay	3769	KCNJ13	ORPHA:65
HP:0012758	Neurodevelopmental delay	343035	RD3	ORPHA:65
HP:0012758	Neurodevelopmental delay	145226	RDH12	ORPHA:65
HP:0012758	Neurodevelopmental delay	1406	CRX	ORPHA:65
HP:0012758	Neurodevelopmental delay	57096	RPGRIP1	ORPHA:65
HP:0012758	Neurodevelopmental delay	10383	TUBB4B	ORPHA:65
HP:0012758	Neurodevelopmental delay	9742	IFT140	ORPHA:65
HP:0012758	Neurodevelopmental delay	9742	IFT140	OMIM:617781
HP:0012758	Neurodevelopmental delay	9742	IFT140	OMIM:266920
HP:0012758	Neurodevelopmental delay	85015	USP45	ORPHA:65
HP:0012758	Neurodevelopmental delay	23418	CRB1	ORPHA:65
HP:0012758	Neurodevelopmental delay	5130	PCYT1A	ORPHA:65
HP:0012758	Neurodevelopmental delay	392255	GDF6	ORPHA:65
HP:0012758	Neurodevelopmental delay	23746	AIPL1	ORPHA:65
HP:0012758	Neurodevelopmental delay	3000	GUCY2D	ORPHA:65
HP:0012758	Neurodevelopmental delay	7287	TULP1	ORPHA:65
HP:0012758	Neurodevelopmental delay	3614	IMPDH1	ORPHA:65
HP:0012758	Neurodevelopmental delay	51660	MPC1	OMIM:614741
HP:0012758	Neurodevelopmental delay	89884	LHX4	ORPHA:95496
HP:0012758	Neurodevelopmental delay	55717	WDR11	ORPHA:95496
HP:0012758	Neurodevelopmental delay	6091	ROBO1	ORPHA:95496
HP:0012758	Neurodevelopmental delay	23432	GPR161	ORPHA:95496
HP:0012758	Neurodevelopmental delay	11128	POLR3A	OMIM:264090
HP:0012758	Neurodevelopmental delay	11128	POLR3A	OMIM:607694
HP:0012758	Neurodevelopmental delay	11128	POLR3A	ORPHA:3455
HP:0012758	Neurodevelopmental delay	11128	POLR3A	ORPHA:447896
HP:0012758	Neurodevelopmental delay	5649	RELN	OMIM:257320
HP:0012758	Neurodevelopmental delay	80025	PANK2	OMIM:234200
HP:0012758	Neurodevelopmental delay	80025	PANK2	ORPHA:216866
HP:0012758	Neurodevelopmental delay	55719	SLF2	OMIM:620184
HP:0012758	Neurodevelopmental delay	55343	SLC35C1	OMIM:266265
HP:0012758	Neurodevelopmental delay	79759	ZNF668	OMIM:620194
HP:0012758	Neurodevelopmental delay	8050	PDHX	OMIM:245349
HP:0012758	Neurodevelopmental delay	8050	PDHX	ORPHA:255182
HP:0012758	Neurodevelopmental delay	4256	MGP	ORPHA:85202
HP:0012758	Neurodevelopmental delay	4256	MGP	OMIM:245150
HP:0012758	Neurodevelopmental delay	2255	FGF10	ORPHA:2363
HP:0012758	Neurodevelopmental delay	54112	GPR88	OMIM:616939
HP:0012758	Neurodevelopmental delay	415	ARSL	OMIM:302950
HP:0012758	Neurodevelopmental delay	415	ARSL	ORPHA:79345
HP:0012758	Neurodevelopmental delay	147372	CCBE1	OMIM:235510
HP:0012758	Neurodevelopmental delay	171023	ASXL1	OMIM:605039
HP:0012758	Neurodevelopmental delay	10535	RNASEH2A	ORPHA:51
HP:0012758	Neurodevelopmental delay	84153	RNASEH2C	ORPHA:51
HP:0012758	Neurodevelopmental delay	25939	SAMHD1	ORPHA:51
HP:0012758	Neurodevelopmental delay	25939	SAMHD1	OMIM:612952
HP:0012758	Neurodevelopmental delay	79621	RNASEH2B	ORPHA:51
HP:0012758	Neurodevelopmental delay	134353	LSM11	ORPHA:51
HP:0012758	Neurodevelopmental delay	56052	ALG1	OMIM:608540
HP:0012758	Neurodevelopmental delay	56052	ALG1	ORPHA:79327
HP:0012758	Neurodevelopmental delay	22856	CHSY1	ORPHA:363417
HP:0012758	Neurodevelopmental delay	22856	CHSY1	OMIM:605282
HP:0012758	Neurodevelopmental delay	60529	ALX4	OMIM:613451
HP:0012758	Neurodevelopmental delay	60529	ALX4	ORPHA:52022
HP:0012758	Neurodevelopmental delay	50943	FOXP3	OMIM:304790
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:216360
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:615991
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:610688
HP:0012758	Neurodevelopmental delay	91147	TMEM67	ORPHA:475
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:613550
HP:0012758	Neurodevelopmental delay	123016	TTC8	OMIM:613464
HP:0012758	Neurodevelopmental delay	123016	TTC8	OMIM:615985
HP:0012758	Neurodevelopmental delay	54820	NDE1	OMIM:605013
HP:0012758	Neurodevelopmental delay	54820	NDE1	ORPHA:2177
HP:0012758	Neurodevelopmental delay	54820	NDE1	OMIM:614019
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177904
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177901
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177910
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:98754
HP:0012758	Neurodevelopmental delay	10560	SLC19A2	OMIM:249270
HP:0012758	Neurodevelopmental delay	6663	SOX10	ORPHA:163746
HP:0012758	Neurodevelopmental delay	6663	SOX10	OMIM:611584
HP:0012758	Neurodevelopmental delay	6663	SOX10	OMIM:609136
HP:0012758	Neurodevelopmental delay	5075	PAX1	ORPHA:2792
HP:0012758	Neurodevelopmental delay	5075	PAX1	OMIM:615560
HP:0012758	Neurodevelopmental delay	51524	TMEM138	ORPHA:2318
HP:0012758	Neurodevelopmental delay	23090	ZNF423	ORPHA:2318
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	ORPHA:2318
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	OMIM:619111
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	OMIM:612285
HP:0012758	Neurodevelopmental delay	5147	PDE6D	OMIM:615665
HP:0012758	Neurodevelopmental delay	5147	PDE6D	ORPHA:2754
HP:0012758	Neurodevelopmental delay	121278	TPH2	OMIM:613003
HP:0012758	Neurodevelopmental delay	4914	NTRK1	OMIM:256800
HP:0012758	Neurodevelopmental delay	114548	NLRP3	ORPHA:1451
HP:0012758	Neurodevelopmental delay	9750	RIPOR2	OMIM:616515
HP:0012758	Neurodevelopmental delay	5723	PSPH	ORPHA:79350
HP:0012758	Neurodevelopmental delay	5723	PSPH	OMIM:614023
HP:0012758	Neurodevelopmental delay	2313	FLI1	ORPHA:2308
HP:0012758	Neurodevelopmental delay	326625	MMAB	OMIM:251110
HP:0012758	Neurodevelopmental delay	760	CA2	ORPHA:2785
HP:0012758	Neurodevelopmental delay	80152	CENPT	OMIM:618702
HP:0012758	Neurodevelopmental delay	57570	TRMT5	OMIM:616539
HP:0012758	Neurodevelopmental delay	8292	COLQ	ORPHA:98915
HP:0012758	Neurodevelopmental delay	5456	POU3F4	ORPHA:1435
HP:0012758	Neurodevelopmental delay	10577	NPC2	OMIM:607625
HP:0012758	Neurodevelopmental delay	5422	POLA1	OMIM:301220
HP:0012758	Neurodevelopmental delay	5422	POLA1	OMIM:301030
HP:0012758	Neurodevelopmental delay	51099	ABHD5	ORPHA:98907
HP:0012758	Neurodevelopmental delay	4724	NDUFS4	OMIM:252010
HP:0012758	Neurodevelopmental delay	4724	NDUFS4	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4724	NDUFS4	ORPHA:2609
HP:0012758	Neurodevelopmental delay	387	RHOA	OMIM:618727
HP:0012758	Neurodevelopmental delay	8086	AAAS	OMIM:231550
HP:0012758	Neurodevelopmental delay	26123	TCTN3	ORPHA:2753
HP:0012758	Neurodevelopmental delay	26123	TCTN3	ORPHA:2754
HP:0012758	Neurodevelopmental delay	10210	TOPORS	ORPHA:2754
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	ORPHA:2754
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	OMIM:614615
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	OMIM:277170
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	ORPHA:475
HP:0012758	Neurodevelopmental delay	51075	TMX2	OMIM:618730
HP:0012758	Neurodevelopmental delay	57647	DHX37	OMIM:618731
HP:0012758	Neurodevelopmental delay	65057	ACD	OMIM:616553
HP:0012758	Neurodevelopmental delay	65057	ACD	ORPHA:3322
HP:0012758	Neurodevelopmental delay	7471	WNT1	OMIM:615220
HP:0012758	Neurodevelopmental delay	10736	SIX2	ORPHA:488437
HP:0012758	Neurodevelopmental delay	8449	DHX16	OMIM:618733
HP:0012758	Neurodevelopmental delay	6655	SOS2	OMIM:616559
HP:0012758	Neurodevelopmental delay	3852	KRT5	ORPHA:79396
HP:0012758	Neurodevelopmental delay	3852	KRT5	OMIM:619599
HP:0012758	Neurodevelopmental delay	3861	KRT14	ORPHA:79396
HP:0012758	Neurodevelopmental delay	1497	CTNS	OMIM:219800
HP:0012758	Neurodevelopmental delay	4791	NFKB2	ORPHA:293978
HP:0012758	Neurodevelopmental delay	4791	NFKB2	OMIM:615577
HP:0012758	Neurodevelopmental delay	10617	STAMBP	OMIM:614261
HP:0012758	Neurodevelopmental delay	8294	H4C9	OMIM:619951
HP:0012758	Neurodevelopmental delay	343450	KCNT2	OMIM:617771
HP:0012758	Neurodevelopmental delay	55627	SMPD4	OMIM:618622
HP:0012758	Neurodevelopmental delay	23417	MLYCD	OMIM:248360
HP:0012758	Neurodevelopmental delay	5361	PLXNA1	OMIM:619955
HP:0012758	Neurodevelopmental delay	64682	ANAPC1	OMIM:618625
HP:0012758	Neurodevelopmental delay	64682	ANAPC1	ORPHA:221008
HP:0012758	Neurodevelopmental delay	6536	SLC6A9	OMIM:617301
HP:0012758	Neurodevelopmental delay	790	CAD	OMIM:616457
HP:0012758	Neurodevelopmental delay	526	ATP6V1B2	OMIM:616455
HP:0012758	Neurodevelopmental delay	526	ATP6V1B2	ORPHA:79500
HP:0012758	Neurodevelopmental delay	129563	DIS3L2	ORPHA:2849
HP:0012758	Neurodevelopmental delay	129563	DIS3L2	OMIM:267000
HP:0012758	Neurodevelopmental delay	3284	HSD3B2	ORPHA:90791
HP:0012758	Neurodevelopmental delay	10559	SLC35A1	OMIM:603585
HP:0012758	Neurodevelopmental delay	10584	COLEC10	OMIM:248340
HP:0012758	Neurodevelopmental delay	91869	RFT1	ORPHA:244310
HP:0012758	Neurodevelopmental delay	91869	RFT1	OMIM:612015
HP:0012758	Neurodevelopmental delay	79184	BRCC3	ORPHA:280679
HP:0012758	Neurodevelopmental delay	2626	GATA4	ORPHA:251071
HP:0012758	Neurodevelopmental delay	7469	NELFA	ORPHA:280
HP:0012758	Neurodevelopmental delay	388962	BOLA3	OMIM:614299
HP:0012758	Neurodevelopmental delay	9731	CEP104	OMIM:619988
HP:0012758	Neurodevelopmental delay	9731	CEP104	OMIM:616781
HP:0012758	Neurodevelopmental delay	9731	CEP104	ORPHA:475
HP:0012758	Neurodevelopmental delay	3782	KCNN3	OMIM:618658
HP:0012758	Neurodevelopmental delay	8642	DCHS1	OMIM:601390
HP:0012758	Neurodevelopmental delay	8642	DCHS1	ORPHA:314679
HP:0012758	Neurodevelopmental delay	8241	RBM10	OMIM:311900
HP:0012758	Neurodevelopmental delay	8241	RBM10	ORPHA:2886
HP:0012758	Neurodevelopmental delay	57167	SALL4	ORPHA:233
HP:0012758	Neurodevelopmental delay	9935	MAFB	ORPHA:233
HP:0012758	Neurodevelopmental delay	1123	CHN1	ORPHA:233
HP:0012758	Neurodevelopmental delay	2074	ERCC6	OMIM:214150
HP:0012758	Neurodevelopmental delay	2074	ERCC6	OMIM:278800
HP:0012758	Neurodevelopmental delay	85301	COL27A1	OMIM:615155
HP:0012758	Neurodevelopmental delay	54902	TTC19	OMIM:615157
HP:0012758	Neurodevelopmental delay	286	ANK1	ORPHA:251066
HP:0012758	Neurodevelopmental delay	5860	QDPR	ORPHA:226
HP:0012758	Neurodevelopmental delay	5860	QDPR	OMIM:261630
HP:0012758	Neurodevelopmental delay	166785	MMAA	OMIM:251100
HP:0012758	Neurodevelopmental delay	5551	PRF1	OMIM:603553
HP:0012758	Neurodevelopmental delay	8676	STX11	OMIM:603552
HP:0012758	Neurodevelopmental delay	554	AVPR2	ORPHA:223
HP:0012758	Neurodevelopmental delay	359	AQP2	ORPHA:223
HP:0012758	Neurodevelopmental delay	7385	UQCRC2	OMIM:615160
HP:0012758	Neurodevelopmental delay	22	ABCB7	ORPHA:2802
HP:0012758	Neurodevelopmental delay	6324	SCN1B	OMIM:617350
HP:0012758	Neurodevelopmental delay	6324	SCN1B	ORPHA:1934
HP:0012758	Neurodevelopmental delay	79989	IFT56	OMIM:619534
HP:0012758	Neurodevelopmental delay	2678	GGT1	OMIM:231950
HP:0012758	Neurodevelopmental delay	404672	GTF2H5	ORPHA:33364
HP:0012758	Neurodevelopmental delay	404672	GTF2H5	OMIM:616395
HP:0012758	Neurodevelopmental delay	136647	MPLKIP	ORPHA:33364
HP:0012758	Neurodevelopmental delay	136647	MPLKIP	OMIM:234050
HP:0012758	Neurodevelopmental delay	6897	TARS1	ORPHA:33364
HP:0012758	Neurodevelopmental delay	2071	ERCC3	ORPHA:33364
HP:0012758	Neurodevelopmental delay	2071	ERCC3	ORPHA:220295
HP:0012758	Neurodevelopmental delay	148789	B3GALNT2	OMIM:615181
HP:0012758	Neurodevelopmental delay	148789	B3GALNT2	ORPHA:899
HP:0012758	Neurodevelopmental delay	27247	NFU1	OMIM:605711
HP:0012758	Neurodevelopmental delay	7040	TGFB1	OMIM:618213
HP:0012758	Neurodevelopmental delay	133686	NADK2	OMIM:616034
HP:0012758	Neurodevelopmental delay	133686	NADK2	ORPHA:431361
HP:0012758	Neurodevelopmental delay	79751	SLC25A22	ORPHA:1935
HP:0012758	Neurodevelopmental delay	79751	SLC25A22	ORPHA:1934
HP:0012758	Neurodevelopmental delay	9091	PIGQ	ORPHA:1934
HP:0012758	Neurodevelopmental delay	2917	GRM7	ORPHA:1934
HP:0012758	Neurodevelopmental delay	10456	HAX1	OMIM:610738
HP:0012758	Neurodevelopmental delay	2737	GLI3	ORPHA:672
HP:0012758	Neurodevelopmental delay	2737	GLI3	OMIM:175700
HP:0012758	Neurodevelopmental delay	2737	GLI3	OMIM:146510
HP:0012758	Neurodevelopmental delay	51750	RTEL1	OMIM:615190
HP:0012758	Neurodevelopmental delay	51750	RTEL1	ORPHA:3322
HP:0012758	Neurodevelopmental delay	51750	RTEL1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	4728	NDUFS8	OMIM:618222
HP:0012758	Neurodevelopmental delay	4728	NDUFS8	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4728	NDUFS8	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4723	NDUFV1	OMIM:618225
HP:0012758	Neurodevelopmental delay	4723	NDUFV1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4723	NDUFV1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	79705	LRRK1	OMIM:615198
HP:0012758	Neurodevelopmental delay	4719	NDUFS1	OMIM:618226
HP:0012758	Neurodevelopmental delay	4719	NDUFS1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4719	NDUFS1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	2627	GATA6	OMIM:600001
HP:0012758	Neurodevelopmental delay	2627	GATA6	OMIM:217095
HP:0012758	Neurodevelopmental delay	55869	HDAC8	OMIM:300882
HP:0012758	Neurodevelopmental delay	55869	HDAC8	ORPHA:3459
HP:0012758	Neurodevelopmental delay	1349	COX7B	OMIM:300887
HP:0012758	Neurodevelopmental delay	1349	COX7B	ORPHA:2556
HP:0012758	Neurodevelopmental delay	1349	COX7B	OMIM:309801
HP:0012758	Neurodevelopmental delay	91942	NDUFAF2	OMIM:618233
HP:0012758	Neurodevelopmental delay	91942	NDUFAF2	ORPHA:255241
HP:0012758	Neurodevelopmental delay	91942	NDUFAF2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	650	BMP2	ORPHA:261295
HP:0012758	Neurodevelopmental delay	6514	SLC2A2	OMIM:227810
HP:0012758	Neurodevelopmental delay	51103	NDUFAF1	OMIM:618234
HP:0012758	Neurodevelopmental delay	51103	NDUFAF1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	OMIM:226960
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	OMIM:616651
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	ORPHA:2636
HP:0012758	Neurodevelopmental delay	4695	NDUFA2	OMIM:618235
HP:0012758	Neurodevelopmental delay	4695	NDUFA2	ORPHA:255241
HP:0012758	Neurodevelopmental delay	126328	NDUFA11	OMIM:618236
HP:0012758	Neurodevelopmental delay	126328	NDUFA11	ORPHA:2609
HP:0012758	Neurodevelopmental delay	51119	SBDS	OMIM:260400
HP:0012758	Neurodevelopmental delay	9342	SNAP29	ORPHA:66631
HP:0012758	Neurodevelopmental delay	9342	SNAP29	OMIM:609528
HP:0012758	Neurodevelopmental delay	219854	TMEM218	OMIM:619562
HP:0012758	Neurodevelopmental delay	219854	TMEM218	ORPHA:475
HP:0012758	Neurodevelopmental delay	79133	NDUFAF5	OMIM:618238
HP:0012758	Neurodevelopmental delay	79133	NDUFAF5	ORPHA:255241
HP:0012758	Neurodevelopmental delay	79133	NDUFAF5	ORPHA:2609
HP:0012758	Neurodevelopmental delay	137682	NDUFAF6	OMIM:618239
HP:0012758	Neurodevelopmental delay	137682	NDUFAF6	ORPHA:255241
HP:0012758	Neurodevelopmental delay	2067	ERCC1	OMIM:610758
HP:0012758	Neurodevelopmental delay	2710	GK	OMIM:307030
HP:0012758	Neurodevelopmental delay	9179	AP4M1	OMIM:612936
HP:0012758	Neurodevelopmental delay	9179	AP4M1	ORPHA:280763
HP:0012758	Neurodevelopmental delay	9126	SMC3	OMIM:610759
HP:0012758	Neurodevelopmental delay	351	APP	ORPHA:324703
HP:0012758	Neurodevelopmental delay	22796	COG2	OMIM:617395
HP:0012758	Neurodevelopmental delay	4709	NDUFB3	OMIM:618246
HP:0012758	Neurodevelopmental delay	4709	NDUFB3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	25915	NDUFAF3	OMIM:618240
HP:0012758	Neurodevelopmental delay	25915	NDUFAF3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	25915	NDUFAF3	ORPHA:70474
HP:0012758	Neurodevelopmental delay	80224	NUBPL	OMIM:618242
HP:0012758	Neurodevelopmental delay	80224	NUBPL	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4705	NDUFA10	OMIM:618243
HP:0012758	Neurodevelopmental delay	4705	NDUFA10	ORPHA:255241
HP:0012758	Neurodevelopmental delay	2664	GDI1	OMIM:300849
HP:0012758	Neurodevelopmental delay	51079	NDUFA13	OMIM:618249
HP:0012758	Neurodevelopmental delay	51079	NDUFA13	ORPHA:255241
HP:0012758	Neurodevelopmental delay	116442	RAB39B	OMIM:311510
HP:0012758	Neurodevelopmental delay	116442	RAB39B	OMIM:300271
HP:0012758	Neurodevelopmental delay	4864	NPC1	OMIM:257220
HP:0012758	Neurodevelopmental delay	56652	TWNK	OMIM:609286
HP:0012758	Neurodevelopmental delay	10483	SEC23B	ORPHA:201
HP:0012758	Neurodevelopmental delay	6391	SDHC	ORPHA:201
HP:0012758	Neurodevelopmental delay	207	AKT1	ORPHA:201
HP:0012758	Neurodevelopmental delay	205717	USF3	ORPHA:201
HP:0012758	Neurodevelopmental delay	100144748	KLLN	ORPHA:201
HP:0012758	Neurodevelopmental delay	10524	KAT5	OMIM:619103
HP:0012758	Neurodevelopmental delay	9451	EIF2AK3	OMIM:226980
HP:0012758	Neurodevelopmental delay	9451	EIF2AK3	ORPHA:1667
HP:0012758	Neurodevelopmental delay	51300	TIMMDC1	OMIM:618251
HP:0012758	Neurodevelopmental delay	51300	TIMMDC1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4714	NDUFB8	OMIM:618252
HP:0012758	Neurodevelopmental delay	4714	NDUFB8	ORPHA:70474
HP:0012758	Neurodevelopmental delay	7403	KDM6A	OMIM:300867
HP:0012758	Neurodevelopmental delay	7403	KDM6A	OMIM:147920
HP:0012758	Neurodevelopmental delay	4700	NDUFA6	OMIM:618253
HP:0012758	Neurodevelopmental delay	4700	NDUFA6	ORPHA:2609
HP:0012758	Neurodevelopmental delay	23384	SPECC1L	OMIM:145420
HP:0012758	Neurodevelopmental delay	6023	RMRP	OMIM:607095
HP:0012758	Neurodevelopmental delay	2683	B4GALT1	OMIM:607091
HP:0012758	Neurodevelopmental delay	4990	SIX6	OMIM:206900
HP:0012758	Neurodevelopmental delay	3975	LHX1	ORPHA:261265
HP:0012758	Neurodevelopmental delay	6928	HNF1B	ORPHA:261265
HP:0012758	Neurodevelopmental delay	6928	HNF1B	ORPHA:93111
HP:0012758	Neurodevelopmental delay	51095	TRNT1	OMIM:616084
HP:0012758	Neurodevelopmental delay	1528	CYB5A	ORPHA:621
HP:0012758	Neurodevelopmental delay	1727	CYB5R3	ORPHA:621
HP:0012758	Neurodevelopmental delay	1727	CYB5R3	OMIM:250800
HP:0012758	Neurodevelopmental delay	23405	DICER1	OMIM:618272
HP:0012758	Neurodevelopmental delay	2571	GAD1	OMIM:619124
HP:0012758	Neurodevelopmental delay	6566	SLC16A1	OMIM:616095
HP:0012758	Neurodevelopmental delay	55755	CDK5RAP2	OMIM:604804
HP:0012758	Neurodevelopmental delay	55755	CDK5RAP2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	90416	CCDC32	OMIM:619123
HP:0012758	Neurodevelopmental delay	64093	SMOC1	OMIM:206920
HP:0012758	Neurodevelopmental delay	9895	TECPR2	ORPHA:320385
HP:0012758	Neurodevelopmental delay	9895	TECPR2	OMIM:615031
HP:0012758	Neurodevelopmental delay	4668	NAGA	OMIM:609241
HP:0012758	Neurodevelopmental delay	4668	NAGA	ORPHA:79281
HP:0012758	Neurodevelopmental delay	4668	NAGA	ORPHA:79279
HP:0012758	Neurodevelopmental delay	9487	PIGL	OMIM:280000
HP:0012758	Neurodevelopmental delay	9487	PIGL	ORPHA:247262
HP:0012758	Neurodevelopmental delay	23259	DDHD2	ORPHA:320380
HP:0012758	Neurodevelopmental delay	23259	DDHD2	OMIM:615033
HP:0012758	Neurodevelopmental delay	5660	PSAP	ORPHA:206436
HP:0012758	Neurodevelopmental delay	5660	PSAP	OMIM:249900
HP:0012758	Neurodevelopmental delay	1719	DHFR	OMIM:613839
HP:0012758	Neurodevelopmental delay	80704	SLC19A3	ORPHA:263410
HP:0012758	Neurodevelopmental delay	80704	SLC19A3	OMIM:607483
HP:0012758	Neurodevelopmental delay	80704	SLC19A3	ORPHA:255241
HP:0012758	Neurodevelopmental delay	9652	SKIC3	ORPHA:84064
HP:0012758	Neurodevelopmental delay	6499	SKIC2	ORPHA:84064
HP:0012758	Neurodevelopmental delay	54938	SARS2	OMIM:613845
HP:0012758	Neurodevelopmental delay	11005	SPINK5	ORPHA:634
HP:0012758	Neurodevelopmental delay	11005	SPINK5	OMIM:256500
HP:0012758	Neurodevelopmental delay	4594	MMUT	ORPHA:289916
HP:0012758	Neurodevelopmental delay	4594	MMUT	OMIM:251000
HP:0012758	Neurodevelopmental delay	4594	MMUT	ORPHA:79312
HP:0012758	Neurodevelopmental delay	10134	BCAP31	OMIM:300475
HP:0012758	Neurodevelopmental delay	91574	MTRFR	ORPHA:254930
HP:0012758	Neurodevelopmental delay	91574	MTRFR	OMIM:615035
HP:0012758	Neurodevelopmental delay	91574	MTRFR	OMIM:613559
HP:0012758	Neurodevelopmental delay	83700	JAM3	OMIM:613730
HP:0012758	Neurodevelopmental delay	5894	RAF1	OMIM:611553
HP:0012758	Neurodevelopmental delay	5894	RAF1	ORPHA:500
HP:0012758	Neurodevelopmental delay	95	ACY1	ORPHA:137754
HP:0012758	Neurodevelopmental delay	95	ACY1	OMIM:609924
HP:0012758	Neurodevelopmental delay	145173	B3GLCT	ORPHA:709
HP:0012758	Neurodevelopmental delay	145173	B3GLCT	OMIM:261540
HP:0012758	Neurodevelopmental delay	5111	PCNA	OMIM:615919
HP:0012758	Neurodevelopmental delay	5111	PCNA	ORPHA:438134
HP:0012758	Neurodevelopmental delay	118987	PDZD8	OMIM:620021
HP:0012758	Neurodevelopmental delay	57176	VARS2	OMIM:615917
HP:0012758	Neurodevelopmental delay	80222	TARS2	OMIM:615918
HP:0012758	Neurodevelopmental delay	162	AP1B1	OMIM:242150
HP:0012758	Neurodevelopmental delay	3141	HLCS	OMIM:253270
HP:0012758	Neurodevelopmental delay	55163	PNPO	ORPHA:79096
HP:0012758	Neurodevelopmental delay	55163	PNPO	OMIM:610090
HP:0012758	Neurodevelopmental delay	63908	NAPB	OMIM:620033
HP:0012758	Neurodevelopmental delay	28958	COA3	OMIM:619058
HP:0012758	Neurodevelopmental delay	1351	COX8A	OMIM:619059
HP:0012758	Neurodevelopmental delay	686	BTD	OMIM:253260
HP:0012758	Neurodevelopmental delay	686	BTD	ORPHA:79241
HP:0012758	Neurodevelopmental delay	6575	SLC20A2	OMIM:213600
HP:0012758	Neurodevelopmental delay	5155	PDGFB	OMIM:213600
HP:0012758	Neurodevelopmental delay	5159	PDGFRB	OMIM:213600
HP:0012758	Neurodevelopmental delay	5159	PDGFRB	OMIM:601812
HP:0012758	Neurodevelopmental delay	10015	PDCD6IP	OMIM:620047
HP:0012758	Neurodevelopmental delay	5428	POLG	ORPHA:726
HP:0012758	Neurodevelopmental delay	5428	POLG	OMIM:203700
HP:0012758	Neurodevelopmental delay	5428	POLG	OMIM:613662
HP:0012758	Neurodevelopmental delay	124512	METTL23	OMIM:615942
HP:0012758	Neurodevelopmental delay	9152	SLC6A5	OMIM:614618
HP:0012758	Neurodevelopmental delay	3265	HRAS	OMIM:218040
HP:0012758	Neurodevelopmental delay	1174	AP1S1	OMIM:609313
HP:0012758	Neurodevelopmental delay	23265	EXOC7	OMIM:619072
HP:0012758	Neurodevelopmental delay	5091	PC	OMIM:266150
HP:0012758	Neurodevelopmental delay	81031	SLC2A10	ORPHA:3342
HP:0012758	Neurodevelopmental delay	9719	ADAMTSL2	OMIM:231050
HP:0012758	Neurodevelopmental delay	6609	SMPD1	OMIM:257200
HP:0012758	Neurodevelopmental delay	84992	PIGY	OMIM:616809
HP:0012758	Neurodevelopmental delay	84992	PIGY	ORPHA:247262
HP:0012758	Neurodevelopmental delay	10236	HNRNPR	OMIM:620073
HP:0012758	Neurodevelopmental delay	255928	SYT14	ORPHA:284271
HP:0012758	Neurodevelopmental delay	255928	SYT14	OMIM:614229
HP:0012758	Neurodevelopmental delay	25828	TXN2	OMIM:616811
HP:0012758	Neurodevelopmental delay	4920	ROR2	OMIM:268310
HP:0012758	Neurodevelopmental delay	9080	CLDN9	OMIM:619093
HP:0012758	Neurodevelopmental delay	8195	MKKS	ORPHA:2473
HP:0012758	Neurodevelopmental delay	147007	TMEM199	OMIM:616829
HP:0012758	Neurodevelopmental delay	84317	CCDC115	OMIM:616828
HP:0012758	Neurodevelopmental delay	5073	PARN	ORPHA:3322
HP:0012758	Neurodevelopmental delay	5073	PARN	OMIM:616353
HP:0012758	Neurodevelopmental delay	5073	PARN	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7015	TERT	ORPHA:3322
HP:0012758	Neurodevelopmental delay	7015	TERT	OMIM:613989
HP:0012758	Neurodevelopmental delay	7015	TERT	ORPHA:1775
HP:0012758	Neurodevelopmental delay	1736	DKC1	ORPHA:3322
HP:0012758	Neurodevelopmental delay	1736	DKC1	OMIM:305000
HP:0012758	Neurodevelopmental delay	1736	DKC1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	92154	MTSS2	OMIM:620086
HP:0012758	Neurodevelopmental delay	583	BBS2	OMIM:615981
HP:0012758	Neurodevelopmental delay	57017	COQ9	OMIM:614654
HP:0012758	Neurodevelopmental delay	51025	PAM16	OMIM:613320
HP:0012758	Neurodevelopmental delay	80199	FUZ	ORPHA:1136
HP:0012758	Neurodevelopmental delay	6307	MSMO1	OMIM:616834
HP:0012758	Neurodevelopmental delay	79738	BBS10	OMIM:615987
HP:0012758	Neurodevelopmental delay	1828	DSG1	OMIM:615508
HP:0012758	Neurodevelopmental delay	90417	KNSTRN	OMIM:613328
HP:0012758	Neurodevelopmental delay	90417	KNSTRN	ORPHA:221139
HP:0012758	Neurodevelopmental delay	5293	PIK3CD	OMIM:613328
HP:0012758	Neurodevelopmental delay	5293	PIK3CD	ORPHA:221139
HP:0012758	Neurodevelopmental delay	3720	JARID2	OMIM:620098
HP:0012758	Neurodevelopmental delay	865	CBFB	OMIM:620099
HP:0012758	Neurodevelopmental delay	1738	DLD	OMIM:246900
HP:0012758	Neurodevelopmental delay	9780	PIEZO1	OMIM:616843
HP:0012758	Neurodevelopmental delay	7167	TPI1	OMIM:615512
HP:0012758	Neurodevelopmental delay	54585	LZTFL1	OMIM:615994
HP:0012758	Neurodevelopmental delay	3313	HSPA9	OMIM:616854
HP:0012758	Neurodevelopmental delay	56997	COQ8A	OMIM:612016
HP:0012758	Neurodevelopmental delay	6301	SARS1	OMIM:617709
HP:0012758	Neurodevelopmental delay	51008	ASCC1	OMIM:616867
HP:0012758	Neurodevelopmental delay	1105	CHD1	ORPHA:529965
HP:0012758	Neurodevelopmental delay	1105	CHD1	OMIM:617682
HP:0012758	Neurodevelopmental delay	3758	KCNJ1	OMIM:241200
HP:0012758	Neurodevelopmental delay	79633	FAT4	OMIM:615546
HP:0012758	Neurodevelopmental delay	79633	FAT4	ORPHA:314679
HP:0012758	Neurodevelopmental delay	4644	MYO5A	ORPHA:79476
HP:0012758	Neurodevelopmental delay	4644	MYO5A	ORPHA:33445
HP:0012758	Neurodevelopmental delay	4644	MYO5A	OMIM:214450
HP:0012758	Neurodevelopmental delay	163786	SASS6	OMIM:616402
HP:0012758	Neurodevelopmental delay	163786	SASS6	ORPHA:2512
HP:0012758	Neurodevelopmental delay	23443	SLC35A3	OMIM:615553
HP:0012758	Neurodevelopmental delay	51002	TPRKB	OMIM:617731
HP:0012758	Neurodevelopmental delay	51002	TPRKB	ORPHA:2065
HP:0012758	Neurodevelopmental delay	490	ATP2B1	OMIM:619910
HP:0012758	Neurodevelopmental delay	4796	TONSL	ORPHA:93357
HP:0012758	Neurodevelopmental delay	51124	IER3IP1	OMIM:614231
HP:0012758	Neurodevelopmental delay	5495	PPM1B	ORPHA:163693
HP:0012758	Neurodevelopmental delay	6519	SLC3A1	ORPHA:163693
HP:0012758	Neurodevelopmental delay	79823	CAMKMT	ORPHA:163693
HP:0012758	Neurodevelopmental delay	3423	IDS	ORPHA:217093
HP:0012758	Neurodevelopmental delay	3423	IDS	ORPHA:217085
HP:0012758	Neurodevelopmental delay	29929	ALG6	OMIM:603147
HP:0012758	Neurodevelopmental delay	5538	PPT1	OMIM:256730
HP:0012758	Neurodevelopmental delay	1663	DDX11	OMIM:613398
HP:0012758	Neurodevelopmental delay	51684	SUFU	OMIM:617757
HP:0012758	Neurodevelopmental delay	51684	SUFU	ORPHA:475
HP:0012758	Neurodevelopmental delay	51663	ZFR	ORPHA:401840
HP:0012758	Neurodevelopmental delay	92935	MARS2	OMIM:616430
HP:0012758	Neurodevelopmental delay	10464	PIBF1	OMIM:617767
HP:0012758	Neurodevelopmental delay	10464	PIBF1	ORPHA:475
HP:0012758	Neurodevelopmental delay	2036	EPB41L1	OMIM:614257
HP:0012758	Neurodevelopmental delay	26235	FBXL4	OMIM:615471
HP:0012758	Neurodevelopmental delay	776	CACNA1D	OMIM:615474
HP:0012758	Neurodevelopmental delay	776	CACNA1D	ORPHA:369929
HP:0012758	Neurodevelopmental delay	91801	ALKBH8	OMIM:618504
HP:0012758	Neurodevelopmental delay	4552	MTRR	OMIM:236270
HP:0012758	Neurodevelopmental delay	4552	MTRR	ORPHA:2169
HP:0012758	Neurodevelopmental delay	23498	HAAO	OMIM:617660
HP:0012758	Neurodevelopmental delay	9578	CDC42BPB	OMIM:619841
HP:0012758	Neurodevelopmental delay	1841	DTYMK	OMIM:619847
HP:0012758	Neurodevelopmental delay	27229	TUBGCP4	OMIM:616335
HP:0012758	Neurodevelopmental delay	3149	HMGB3	OMIM:300915
HP:0012758	Neurodevelopmental delay	9723	SEMA3E	ORPHA:138
HP:0012758	Neurodevelopmental delay	23250	ATP11A	OMIM:619851
HP:0012758	Neurodevelopmental delay	5105	PCK1	OMIM:261680
HP:0012758	Neurodevelopmental delay	1020	CDK5	OMIM:616342
HP:0012758	Neurodevelopmental delay	10087	CERT1	OMIM:616351
HP:0012758	Neurodevelopmental delay	26258	BLOC1S6	OMIM:614171
HP:0012758	Neurodevelopmental delay	788	SLC25A20	ORPHA:159
HP:0012758	Neurodevelopmental delay	285362	SUMF1	ORPHA:585
HP:0012758	Neurodevelopmental delay	285362	SUMF1	OMIM:272200
HP:0012758	Neurodevelopmental delay	9276	COPB2	OMIM:619884
HP:0012758	Neurodevelopmental delay	9276	COPB2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	4285	MIPEP	OMIM:617228
HP:0012758	Neurodevelopmental delay	10531	PITRM1	OMIM:619405
HP:0012758	Neurodevelopmental delay	3798	KIF5A	OMIM:617235
HP:0012758	Neurodevelopmental delay	29960	MRM2	OMIM:618567
HP:0012758	Neurodevelopmental delay	205327	C2orf69	OMIM:619423
HP:0012758	Neurodevelopmental delay	5881	RAC3	OMIM:618577
HP:0012758	Neurodevelopmental delay	7046	TGFBR1	OMIM:609192
HP:0012758	Neurodevelopmental delay	3242	HPD	OMIM:276710
HP:0012758	Neurodevelopmental delay	9488	PIGB	OMIM:618580
HP:0012758	Neurodevelopmental delay	51574	LARP7	OMIM:615071
HP:0012758	Neurodevelopmental delay	57459	GATAD2B	OMIM:615074
HP:0012758	Neurodevelopmental delay	57459	GATAD2B	ORPHA:363686
HP:0012758	Neurodevelopmental delay	8473	OGT	OMIM:300997
HP:0012758	Neurodevelopmental delay	6299	SALL1	OMIM:107480
HP:0012758	Neurodevelopmental delay	6809	STX3	OMIM:619446
HP:0012758	Neurodevelopmental delay	6809	STX3	ORPHA:2290
HP:0012758	Neurodevelopmental delay	114803	MYSM1	OMIM:618116
HP:0012758	Neurodevelopmental delay	56975	FAM20C	OMIM:259775
HP:0012758	Neurodevelopmental delay	537	ATP6AP1	OMIM:300972
HP:0012758	Neurodevelopmental delay	1312	COMT	ORPHA:567
HP:0012758	Neurodevelopmental delay	221037	JMJD1C	ORPHA:567
HP:0012758	Neurodevelopmental delay	2812	GP1BB	ORPHA:567
HP:0012758	Neurodevelopmental delay	2812	GP1BB	ORPHA:853
HP:0012758	Neurodevelopmental delay	6239	RREB1	ORPHA:567
HP:0012758	Neurodevelopmental delay	7290	HIRA	ORPHA:567
HP:0012758	Neurodevelopmental delay	9632	SEC24C	ORPHA:567
HP:0012758	Neurodevelopmental delay	7353	UFD1	ORPHA:567
HP:0012758	Neurodevelopmental delay	421	ARVCF	ORPHA:567
HP:0012758	Neurodevelopmental delay	6557	SLC12A1	OMIM:601678
HP:0012758	Neurodevelopmental delay	3155	HMGCL	OMIM:246450
HP:0012758	Neurodevelopmental delay	2009	EML1	OMIM:600348
HP:0012758	Neurodevelopmental delay	4548	MTR	OMIM:250940
HP:0012758	Neurodevelopmental delay	23316	CUX2	OMIM:618141
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	OMIM:300952
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	ORPHA:2556
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	ORPHA:2609
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	OMIM:309801
HP:0012758	Neurodevelopmental delay	5781	PTPN11	ORPHA:500
HP:0012758	Neurodevelopmental delay	283446	MYO1H	OMIM:619482
HP:0012758	Neurodevelopmental delay	374879	ZNF699	OMIM:619488
HP:0012758	Neurodevelopmental delay	2998	GYS2	ORPHA:2089
HP:0012758	Neurodevelopmental delay	3988	LIPA	ORPHA:75233
HP:0012758	Neurodevelopmental delay	403	ARL3	OMIM:618161
HP:0012758	Neurodevelopmental delay	403	ARL3	ORPHA:475
HP:0012758	Neurodevelopmental delay	80267	EDEM3	OMIM:619493
HP:0012758	Neurodevelopmental delay	63899	NSUN3	OMIM:619012
HP:0012758	Neurodevelopmental delay	7157	TP53	OMIM:618165
HP:0012758	Neurodevelopmental delay	2193	FARSA	OMIM:619013
HP:0012758	Neurodevelopmental delay	727676	SNORD118	ORPHA:542310
HP:0012758	Neurodevelopmental delay	727676	SNORD118	OMIM:614561
HP:0012758	Neurodevelopmental delay	26276	VPS33B	OMIM:620009
HP:0012758	Neurodevelopmental delay	26276	VPS33B	OMIM:208085
HP:0012758	Neurodevelopmental delay	203190	LGI3	OMIM:620007
HP:0012758	Neurodevelopmental delay	11043	MID2	OMIM:300928
HP:0012758	Neurodevelopmental delay	875	CBS	OMIM:236200
HP:0012758	Neurodevelopmental delay	3110	MNX1	OMIM:176450
HP:0012758	Neurodevelopmental delay	5468	PPARG	ORPHA:528
HP:0012758	Neurodevelopmental delay	10555	AGPAT2	ORPHA:528
HP:0012758	Neurodevelopmental delay	284119	CAVIN1	ORPHA:528
HP:0012758	Neurodevelopmental delay	2353	FOS	ORPHA:528
HP:0012758	Neurodevelopmental delay	857	CAV1	ORPHA:528
HP:0012758	Neurodevelopmental delay	9897	WASHC5	ORPHA:7
HP:0012758	Neurodevelopmental delay	9897	WASHC5	OMIM:220210
HP:0012758	Neurodevelopmental delay	54936	ADPRS	OMIM:618170
HP:0012758	Neurodevelopmental delay	80217	CFAP43	OMIM:236690
HP:0012758	Neurodevelopmental delay	84274	COQ5	OMIM:619028
HP:0012758	Neurodevelopmental delay	65055	REEP1	OMIM:620011
HP:0012758	Neurodevelopmental delay	2760	GM2A	OMIM:272750
HP:0012758	Neurodevelopmental delay	5009	OTC	OMIM:311250
HP:0012758	Neurodevelopmental delay	57539	WDR35	OMIM:613610
HP:0012758	Neurodevelopmental delay	1278	COL1A2	ORPHA:230851
HP:0012758	Neurodevelopmental delay	10225	CD96	OMIM:211750
HP:0012758	Neurodevelopmental delay	1763	DNA2	OMIM:615807
HP:0012758	Neurodevelopmental delay	84876	ORAI1	OMIM:612782
HP:0012758	Neurodevelopmental delay	5624	PROC	OMIM:612304
HP:0012758	Neurodevelopmental delay	51057	WDPCP	OMIM:217085
HP:0012758	Neurodevelopmental delay	11232	POLG2	OMIM:610131
HP:0012758	Neurodevelopmental delay	84300	UQCC2	OMIM:615824
HP:0012758	Neurodevelopmental delay	113235	SLC46A1	OMIM:229050
HP:0012758	Neurodevelopmental delay	113235	SLC46A1	ORPHA:90045
HP:0012758	Neurodevelopmental delay	4036	LRP2	ORPHA:2143
HP:0012758	Neurodevelopmental delay	4036	LRP2	OMIM:222448
HP:0012758	Neurodevelopmental delay	3425	IDUA	OMIM:607014
HP:0012758	Neurodevelopmental delay	3425	IDUA	ORPHA:93473
HP:0012758	Neurodevelopmental delay	9907	AP5Z1	OMIM:613647
HP:0012758	Neurodevelopmental delay	6234	RPS28	OMIM:606164
HP:0012758	Neurodevelopmental delay	3418	IDH2	OMIM:613657
HP:0012758	Neurodevelopmental delay	90624	LYRM7	OMIM:615838
HP:0012758	Neurodevelopmental delay	10056	FARSB	OMIM:613658
HP:0012758	Neurodevelopmental delay	4094	MAF	ORPHA:1272
HP:0012758	Neurodevelopmental delay	1910	EDNRB	OMIM:277580
HP:0012758	Neurodevelopmental delay	9440	MED17	OMIM:613668
HP:0012758	Neurodevelopmental delay	137814	NKX2-6	OMIM:217095
HP:0012758	Neurodevelopmental delay	1482	NKX2-5	OMIM:217095
HP:0012758	Neurodevelopmental delay	1482	NKX2-5	ORPHA:95713
HP:0012758	Neurodevelopmental delay	1482	NKX2-5	ORPHA:95712
HP:0012758	Neurodevelopmental delay	57393	CLTRN	ORPHA:2116
HP:0012758	Neurodevelopmental delay	55275	VPS53	OMIM:615851
HP:0012758	Neurodevelopmental delay	7048	TGFBR2	OMIM:610168
HP:0012758	Neurodevelopmental delay	445	ASS1	OMIM:215700
HP:0012758	Neurodevelopmental delay	339453	TMEM240	OMIM:607454
HP:0012758	Neurodevelopmental delay	4089	SMAD4	ORPHA:2588
HP:0012758	Neurodevelopmental delay	5979	RET	OMIM:162300
HP:0012758	Neurodevelopmental delay	2245	FGD1	OMIM:305400
HP:0012758	Neurodevelopmental delay	79796	ALG9	OMIM:608776
HP:0012758	Neurodevelopmental delay	79796	ALG9	ORPHA:79328
HP:0012758	Neurodevelopmental delay	546	ATRX	OMIM:301040
HP:0012758	Neurodevelopmental delay	55593	OTUD5	OMIM:301056
HP:0012758	Neurodevelopmental delay	5160	PDHA1	OMIM:312170
HP:0012758	Neurodevelopmental delay	5160	PDHA1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	11151	CORO1A	OMIM:615401
HP:0012758	Neurodevelopmental delay	83479	DDX59	OMIM:174300
HP:0012758	Neurodevelopmental delay	169792	GLIS3	OMIM:610199
HP:0012758	Neurodevelopmental delay	3796	KIF2A	OMIM:615411
HP:0012758	Neurodevelopmental delay	81620	CDT1	ORPHA:2554
HP:0012758	Neurodevelopmental delay	5000	ORC4	ORPHA:2554
HP:0012758	Neurodevelopmental delay	4998	ORC1	ORPHA:2554
HP:0012758	Neurodevelopmental delay	3052	HCCS	ORPHA:2556
HP:0012758	Neurodevelopmental delay	3052	HCCS	OMIM:309801
HP:0012758	Neurodevelopmental delay	84061	MAGT1	OMIM:301031
HP:0012758	Neurodevelopmental delay	79576	NKAP	OMIM:301039
HP:0012758	Neurodevelopmental delay	8985	PLOD3	OMIM:612394
HP:0012758	Neurodevelopmental delay	25	ABL1	OMIM:617602
HP:0012758	Neurodevelopmental delay	29980	DONSON	OMIM:617604
HP:0012758	Neurodevelopmental delay	538	ATP7A	ORPHA:198
HP:0012758	Neurodevelopmental delay	538	ATP7A	OMIM:304150
HP:0012758	Neurodevelopmental delay	11222	MRPL3	OMIM:614582
HP:0012758	Neurodevelopmental delay	81689	ISCA1	OMIM:617613
HP:0012758	Neurodevelopmental delay	64857	PLEKHG2	OMIM:616763
HP:0012758	Neurodevelopmental delay	51520	LARS1	OMIM:615438
HP:0012758	Neurodevelopmental delay	4329	ALDH6A1	OMIM:614105
HP:0012758	Neurodevelopmental delay	80781	COL18A1	OMIM:267750
HP:0012758	Neurodevelopmental delay	63932	STEEP1	OMIM:301013
HP:0012758	Neurodevelopmental delay	55617	TASP1	OMIM:618950
HP:0012758	Neurodevelopmental delay	5162	PDHB	OMIM:614111
HP:0012758	Neurodevelopmental delay	114928	GPRASP2	OMIM:301018
HP:0012758	Neurodevelopmental delay	60528	ELAC2	OMIM:615440
HP:0012758	Neurodevelopmental delay	10319	LAMC3	OMIM:614115
HP:0012758	Neurodevelopmental delay	3832	KIF11	ORPHA:2526
HP:0012758	Neurodevelopmental delay	4190	MDH1	OMIM:618959
HP:0012758	Neurodevelopmental delay	617	BCS1L	OMIM:124000
HP:0012758	Neurodevelopmental delay	113246	C12orf57	OMIM:218340
HP:0012758	Neurodevelopmental delay	4729	NDUFV2	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4729	NDUFV2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	51204	TACO1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4722	NDUFS3	ORPHA:255241
HP:0012758	Neurodevelopmental delay	4722	NDUFS3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	100131801	PET100	ORPHA:255241
HP:0012758	Neurodevelopmental delay	1355	COX15	ORPHA:255241
HP:0012758	Neurodevelopmental delay	1892	ECHS1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	1892	ECHS1	OMIM:616277
HP:0012758	Neurodevelopmental delay	374291	NDUFS7	ORPHA:255241
HP:0012758	Neurodevelopmental delay	374291	NDUFS7	ORPHA:2609
HP:0012758	Neurodevelopmental delay	51601	LIPT1	ORPHA:255241
HP:0012758	Neurodevelopmental delay	51601	LIPT1	OMIM:616299
HP:0012758	Neurodevelopmental delay	4704	NDUFA9	ORPHA:255241
HP:0012758	Neurodevelopmental delay	7991	TUSC3	OMIM:611093
HP:0012758	Neurodevelopmental delay	23247	KATNIP	OMIM:616784
HP:0012758	Neurodevelopmental delay	23247	KATNIP	ORPHA:475
HP:0012758	Neurodevelopmental delay	71	ACTG1	ORPHA:2995
HP:0012758	Neurodevelopmental delay	9928	KIF14	ORPHA:2512
HP:0012758	Neurodevelopmental delay	4176	MCM7	ORPHA:2512
HP:0012758	Neurodevelopmental delay	79648	MCPH1	ORPHA:2512
HP:0012758	Neurodevelopmental delay	23141	ANKLE2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	23141	ANKLE2	OMIM:616681
HP:0012758	Neurodevelopmental delay	1911	PHC1	ORPHA:2512
HP:0012758	Neurodevelopmental delay	9662	CEP135	ORPHA:2512
HP:0012758	Neurodevelopmental delay	1021	CDK6	ORPHA:2512
HP:0012758	Neurodevelopmental delay	55553	SOX6	OMIM:618971
HP:0012758	Neurodevelopmental delay	8884	SLC5A6	OMIM:618973
HP:0012758	Neurodevelopmental delay	115286	SLC25A26	OMIM:616794
HP:0012758	Neurodevelopmental delay	55367	PIDD1	OMIM:619827
HP:0012758	Neurodevelopmental delay	10749	KIF1C	ORPHA:397946
HP:0012758	Neurodevelopmental delay	4716	NDUFB10	ORPHA:2609
HP:0012758	Neurodevelopmental delay	284184	NDUFAF8	ORPHA:2609
HP:0012758	Neurodevelopmental delay	55863	TMEM126B	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4537	MT-ND3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4726	NDUFS6	ORPHA:2609
HP:0012758	Neurodevelopmental delay	29078	NDUFAF4	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4536	MT-ND2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4715	NDUFB9	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4099	MAG	OMIM:616680
HP:0012758	Neurodevelopmental delay	4099	MAG	ORPHA:459056
HP:0012758	Neurodevelopmental delay	50651	SLC45A1	OMIM:617532
HP:0012758	Neurodevelopmental delay	51126	NAA20	OMIM:619717
HP:0012758	Neurodevelopmental delay	3008	H1-4	OMIM:617537
HP:0012758	Neurodevelopmental delay	79783	SUGCT	ORPHA:35706
HP:0012758	Neurodevelopmental delay	387119	CEP85L	OMIM:618873
HP:0012758	Neurodevelopmental delay	3021	H3-3B	OMIM:619721
HP:0012758	Neurodevelopmental delay	3162	HMOX1	OMIM:614034
HP:0012758	Neurodevelopmental delay	10026	PIGK	OMIM:618879
HP:0012758	Neurodevelopmental delay	4056	LTC4S	OMIM:614037
HP:0012758	Neurodevelopmental delay	79639	TMEM53	OMIM:619727
HP:0012758	Neurodevelopmental delay	375387	NRROS	OMIM:618875
HP:0012758	Neurodevelopmental delay	6440	SFTPC	OMIM:610913
HP:0012758	Neurodevelopmental delay	64175	P3H1	OMIM:610915
HP:0012758	Neurodevelopmental delay	130589	GALM	OMIM:618881
HP:0012758	Neurodevelopmental delay	9692	PRORP	OMIM:619737
HP:0012758	Neurodevelopmental delay	4853	NOTCH2	OMIM:102500
HP:0012758	Neurodevelopmental delay	6773	STAT2	OMIM:618886
HP:0012758	Neurodevelopmental delay	23761	PISD	OMIM:618889
HP:0012758	Neurodevelopmental delay	39	ACAT2	OMIM:614055
HP:0012758	Neurodevelopmental delay	200734	SPRED2	OMIM:619745
HP:0012758	Neurodevelopmental delay	79600	TCTN1	ORPHA:475
HP:0012758	Neurodevelopmental delay	219844	HYLS1	ORPHA:475
HP:0012758	Neurodevelopmental delay	80776	B9D2	ORPHA:475
HP:0012758	Neurodevelopmental delay	25776	CBY1	ORPHA:475
HP:0012758	Neurodevelopmental delay	27077	B9D1	ORPHA:475
HP:0012758	Neurodevelopmental delay	27077	B9D1	OMIM:617120
HP:0012758	Neurodevelopmental delay	1947	EFNB1	OMIM:304110
HP:0012758	Neurodevelopmental delay	8879	SGPL1	OMIM:617575
HP:0012758	Neurodevelopmental delay	51604	PIGT	OMIM:615398
HP:0012758	Neurodevelopmental delay	7531	YWHAE	ORPHA:217385
HP:0012758	Neurodevelopmental delay	8021	NUP214	OMIM:618426
HP:0012758	Neurodevelopmental delay	2643	GCH1	OMIM:233910
HP:0012758	Neurodevelopmental delay	23474	ETHE1	OMIM:602473
HP:0012758	Neurodevelopmental delay	8517	IKBKG	ORPHA:464
HP:0012758	Neurodevelopmental delay	4247	MGAT2	ORPHA:79329
HP:0012758	Neurodevelopmental delay	79803	HPS6	OMIM:614075
HP:0012758	Neurodevelopmental delay	2729	GCLC	ORPHA:33574
HP:0012758	Neurodevelopmental delay	2556	GABRA3	OMIM:301091
HP:0012758	Neurodevelopmental delay	2271	FH	OMIM:606812
HP:0012758	Neurodevelopmental delay	339855	KY	OMIM:617114
HP:0012758	Neurodevelopmental delay	2562	GABRB3	OMIM:617113
HP:0012758	Neurodevelopmental delay	5286	PIK3C2A	OMIM:618440
HP:0012758	Neurodevelopmental delay	23219	FBXO28	OMIM:619777
HP:0012758	Neurodevelopmental delay	10195	ALG3	ORPHA:79321
HP:0012758	Neurodevelopmental delay	10195	ALG3	OMIM:601110
HP:0012758	Neurodevelopmental delay	79053	ALG8	ORPHA:79325
HP:0012758	Neurodevelopmental delay	3763	KCNJ6	OMIM:614098
HP:0012758	Neurodevelopmental delay	6878	TAF6	OMIM:617126
HP:0012758	Neurodevelopmental delay	51013	EXOSC1	OMIM:619304
HP:0012758	Neurodevelopmental delay	5062	PAK2	OMIM:618458
HP:0012758	Neurodevelopmental delay	6650	CAPN15	OMIM:619318
HP:0012758	Neurodevelopmental delay	3786	KCNQ3	OMIM:121201
HP:0012758	Neurodevelopmental delay	10102	TSFM	OMIM:610505
HP:0012758	Neurodevelopmental delay	1436	CSF1R	OMIM:618476
HP:0012758	Neurodevelopmental delay	29998	BICRA	OMIM:619325
HP:0012758	Neurodevelopmental delay	29968	PSAT1	OMIM:610992
HP:0012758	Neurodevelopmental delay	1654	DDX3X	ORPHA:457260
HP:0012758	Neurodevelopmental delay	1282	COL4A1	ORPHA:899
HP:0012758	Neurodevelopmental delay	10329	RXYLT1	ORPHA:899
HP:0012758	Neurodevelopmental delay	2560	GABRB1	OMIM:617153
HP:0012758	Neurodevelopmental delay	23229	ARHGEF9	OMIM:300607
HP:0012758	Neurodevelopmental delay	1108	CHD4	OMIM:617159
HP:0012758	Neurodevelopmental delay	5283	PIGH	OMIM:618010
HP:0012758	Neurodevelopmental delay	84896	ATAD1	OMIM:618011
HP:0012758	Neurodevelopmental delay	51305	KCNK9	ORPHA:166108
HP:0012758	Neurodevelopmental delay	51305	KCNK9	OMIM:612292
HP:0012758	Neurodevelopmental delay	84701	COX4I2	OMIM:612714
HP:0012758	Neurodevelopmental delay	28962	OSTM1	ORPHA:85179
HP:0012758	Neurodevelopmental delay	57514	ARHGAP31	OMIM:100300
HP:0012758	Neurodevelopmental delay	84172	POLR1B	ORPHA:861
HP:0012758	Neurodevelopmental delay	6949	TCOF1	ORPHA:861
HP:0012758	Neurodevelopmental delay	128240	NAXE	OMIM:617186
HP:0012758	Neurodevelopmental delay	539	ATP5PO	OMIM:620359
HP:0012758	Neurodevelopmental delay	2811	GP1BA	ORPHA:853
HP:0012758	Neurodevelopmental delay	3674	ITGA2B	ORPHA:853
HP:0012758	Neurodevelopmental delay	3673	ITGA2	ORPHA:853
HP:0012758	Neurodevelopmental delay	135228	CD109	ORPHA:853
HP:0012758	Neurodevelopmental delay	3690	ITGB3	ORPHA:853
HP:0012758	Neurodevelopmental delay	55898	UNC45A	OMIM:619377
HP:0012758	Neurodevelopmental delay	129285	PPP1R21	OMIM:619383
HP:0012758	Neurodevelopmental delay	341208	HEPHL1	OMIM:261990
HP:0012758	Neurodevelopmental delay	6584	SLC22A5	OMIM:212140
HP:0012758	Neurodevelopmental delay	81555	YIPF5	OMIM:619278
HP:0012758	Neurodevelopmental delay	4645	MYO5B	ORPHA:2290
HP:0012758	Neurodevelopmental delay	3899	AFF3	OMIM:619297
HP:0012758	Neurodevelopmental delay	7841	MOGS	OMIM:606056
HP:0012758	Neurodevelopmental delay	1789	DNMT3B	ORPHA:2268
HP:0012758	Neurodevelopmental delay	4338	MOCS2	OMIM:252160
HP:0012758	Neurodevelopmental delay	5826	ABCD4	OMIM:614857
HP:0012758	Neurodevelopmental delay	1857	DVL3	ORPHA:3107
HP:0012758	Neurodevelopmental delay	2535	FZD2	ORPHA:3107
HP:0012758	Neurodevelopmental delay	157570	ESCO2	ORPHA:3103
HP:0012758	Neurodevelopmental delay	78989	COLEC11	OMIM:265050
HP:0012758	Neurodevelopmental delay	728294	D2HGDH	OMIM:600721
HP:0012758	Neurodevelopmental delay	162417	NAGS	ORPHA:927
HP:0012758	Neurodevelopmental delay	10165	SLC25A13	ORPHA:247585
HP:0012758	Neurodevelopmental delay	11023	VAX1	OMIM:614402
HP:0012758	Neurodevelopmental delay	51199	NIN	ORPHA:319675
HP:0012758	Neurodevelopmental delay	3329	HSPD1	OMIM:612233
HP:0012758	Neurodevelopmental delay	2554	GABRA1	OMIM:615744
HP:0012758	Neurodevelopmental delay	10695	CNPY3	OMIM:617929
HP:0012758	Neurodevelopmental delay	763	CA5A	OMIM:615751
HP:0012758	Neurodevelopmental delay	7545	ZIC1	OMIM:616602
HP:0012758	Neurodevelopmental delay	27249	MMADHC	OMIM:277410
HP:0012758	Neurodevelopmental delay	27249	MMADHC	ORPHA:79283
HP:0012758	Neurodevelopmental delay	79631	EFL1	OMIM:617941
HP:0012758	Neurodevelopmental delay	1644	DDC	OMIM:608643
HP:0012758	Neurodevelopmental delay	5053	PAH	ORPHA:79254
HP:0012758	Neurodevelopmental delay	5053	PAH	ORPHA:2209
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95720
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95713
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95712
HP:0012758	Neurodevelopmental delay	5172	SLC26A4	ORPHA:95720
HP:0012758	Neurodevelopmental delay	5172	SLC26A4	ORPHA:95713
HP:0012758	Neurodevelopmental delay	51116	MRPS2	OMIM:617950
HP:0012758	Neurodevelopmental delay	2304	FOXE1	ORPHA:95713
HP:0012758	Neurodevelopmental delay	9056	SLC7A7	OMIM:222700
HP:0012758	Neurodevelopmental delay	1729	DIAPH1	OMIM:616632
HP:0012758	Neurodevelopmental delay	6785	ELOVL4	OMIM:614457
HP:0012758	Neurodevelopmental delay	57468	SLC12A5	OMIM:616645
HP:0012758	Neurodevelopmental delay	9791	PTDSS1	ORPHA:2658
HP:0012758	Neurodevelopmental delay	4659	PPP1R12A	OMIM:618820
HP:0012758	Neurodevelopmental delay	3704	ITPA	OMIM:616647
HP:0012758	Neurodevelopmental delay	22934	RPIA	OMIM:608611
HP:0012758	Neurodevelopmental delay	22871	NLGN1	OMIM:618830
HP:0012758	Neurodevelopmental delay	2670	GFAP	ORPHA:363717
HP:0012758	Neurodevelopmental delay	100506658	OCLN	OMIM:251290
HP:0012758	Neurodevelopmental delay	5296	PIK3R2	OMIM:603387
HP:0012758	Neurodevelopmental delay	3920	LAMP2	OMIM:300257
HP:0012758	Neurodevelopmental delay	55023	PHIP	OMIM:617991
HP:0012758	Neurodevelopmental delay	1284	COL4A2	OMIM:614483
HP:0012758	Neurodevelopmental delay	51294	PCDH12	OMIM:251280
HP:0012758	Neurodevelopmental delay	6223	RPS19	OMIM:105650
HP:0012758	Neurodevelopmental delay	64072	CDH23	ORPHA:231169
HP:0012758	Neurodevelopmental delay	124590	USH1G	ORPHA:231169
HP:0012758	Neurodevelopmental delay	83715	ESPN	ORPHA:231169
HP:0012758	Neurodevelopmental delay	18	ABAT	OMIM:613163
HP:0012758	Neurodevelopmental delay	80169	CTC1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55651	NHP2	ORPHA:1775
HP:0012758	Neurodevelopmental delay	79650	USB1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55135	WRAP53	ORPHA:1775
HP:0012758	Neurodevelopmental delay	4869	NPM1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7012	TERC	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55505	NOP10	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7298	TYMS	ORPHA:1775
HP:0012758	Neurodevelopmental delay	85378	TUBGCP6	OMIM:251270
HP:0012758	Neurodevelopmental delay	55753	OGDHL	OMIM:619701
HP:0012758	Neurodevelopmental delay	25974	MMACHC	OMIM:277400
HP:0012758	Neurodevelopmental delay	5052	PRDX1	OMIM:277400
HP:0012758	Neurodevelopmental delay	2137	EXTL3	ORPHA:508533
HP:0012758	Neurodevelopmental delay	2137	EXTL3	OMIM:617425
HP:0012758	Neurodevelopmental delay	29899	GPSM2	OMIM:604213
HP:0012758	Neurodevelopmental delay	2673	GFPT1	OMIM:608931
HP:0012758	Neurodevelopmental delay	2673	GFPT1	OMIM:610542
HP:0012758	Neurodevelopmental delay	2673	GFPT1	ORPHA:353327
HP:0012758	Neurodevelopmental delay	1145	CHRNE	OMIM:608931
HP:0012758	Neurodevelopmental delay	8367	H4C5	OMIM:619950
HP:0012758	Neurodevelopmental delay	104	ADARB1	OMIM:618862
HP:0012758	Neurodevelopmental delay	91452	ACBD5	OMIM:618863
HP:0012758	Neurodevelopmental delay	9853	RUSC2	OMIM:617773
HP:0012758	Neurodevelopmental delay	29925	GMPPB	OMIM:615351
HP:0012758	Neurodevelopmental delay	29925	GMPPB	OMIM:615352
HP:0012758	Neurodevelopmental delay	29925	GMPPB	ORPHA:370968
HP:0012758	Neurodevelopmental delay	29925	GMPPB	ORPHA:353327
HP:0012758	Neurodevelopmental delay	4750	NEK1	OMIM:263520
HP:0012758	Neurodevelopmental delay	2132	EXT2	OMIM:616682
HP:0012758	Neurodevelopmental delay	54101	RIPK4	ORPHA:1401
HP:0012758	Neurodevelopmental delay	23135	KDM6B	OMIM:618505
HP:0012758	Neurodevelopmental delay	22880	MORC2	OMIM:616688
HP:0012758	Neurodevelopmental delay	1024	CDK8	OMIM:618748
HP:0012758	Neurodevelopmental delay	10054	UBA2	OMIM:619959
HP:0012758	Neurodevelopmental delay	1144	CHRND	OMIM:616323
HP:0012758	Neurodevelopmental delay	4919	ROR1	OMIM:617654
HP:0012758	Neurodevelopmental delay	10059	DNM1L	OMIM:614388
HP:0012758	Neurodevelopmental delay	4860	PNP	OMIM:613179
HP:0012758	Neurodevelopmental delay	6228	RPS23	OMIM:617412
HP:0012758	Neurodevelopmental delay	4897	NRCAM	OMIM:619833
HP:0012758	Neurodevelopmental delay	26040	SETBP1	ORPHA:436151
HP:0012758	Neurodevelopmental delay	26040	SETBP1	OMIM:616078
HP:0012758	Neurodevelopmental delay	22800	RRAS2	OMIM:618624
HP:0012758	Neurodevelopmental delay	84334	COA8	ORPHA:436271
HP:0012758	Neurodevelopmental delay	3703	STT3A	OMIM:619714
HP:0012758	Neurodevelopmental delay	1134	CHRNA1	OMIM:608930
HP:0012758	Neurodevelopmental delay	10159	ATP6AP2	ORPHA:93952
HP:0012758	Neurodevelopmental delay	10159	ATP6AP2	OMIM:300423
HP:0012758	Neurodevelopmental delay	5339	PLEC	ORPHA:254361
HP:0012758	Neurodevelopmental delay	5339	PLEC	OMIM:613723
HP:0012758	Neurodevelopmental delay	4125	MAN2B1	ORPHA:309282
HP:0012758	Neurodevelopmental delay	3481	IGF2	ORPHA:231140
HP:0012758	Neurodevelopmental delay	3481	IGF2	ORPHA:231144
HP:0012758	Neurodevelopmental delay	3481	IGF2	OMIM:616489
HP:0012758	Neurodevelopmental delay	3481	IGF2	ORPHA:397590
HP:0012758	Neurodevelopmental delay	283120	H19	ORPHA:231140
HP:0012758	Neurodevelopmental delay	283120	H19	ORPHA:231144
HP:0012758	Neurodevelopmental delay	57165	GJC2	OMIM:608804
HP:0012758	Neurodevelopmental delay	54344	DPM3	OMIM:618992
HP:0012758	Neurodevelopmental delay	116931	MED12L	OMIM:618872
HP:0012758	Neurodevelopmental delay	10300	KATNB1	OMIM:616212
HP:0012758	Neurodevelopmental delay	7552	ZNF711	OMIM:300803
HP:0012758	Neurodevelopmental delay	4141	MARS1	OMIM:615486
HP:0012758	Neurodevelopmental delay	55790	CSGALNACT1	OMIM:618870
HP:0012758	Neurodevelopmental delay	283489	CHAMP1	OMIM:616579
HP:0012758	Neurodevelopmental delay	27245	AHDC1	ORPHA:412069
HP:0012758	Neurodevelopmental delay	80155	NAA15	OMIM:617787
HP:0012758	Neurodevelopmental delay	65082	VPS33A	OMIM:617303
HP:0012758	Neurodevelopmental delay	84466	MEGF10	OMIM:614399
HP:0012758	Neurodevelopmental delay	10730	YME1L1	OMIM:617302
HP:0012758	Neurodevelopmental delay	2201	FBN2	OMIM:121050
HP:0012758	Neurodevelopmental delay	318	NUDT2	OMIM:619844
HP:0012758	Neurodevelopmental delay	6595	SMARCA2	ORPHA:2728
HP:0012758	Neurodevelopmental delay	128486	FITM2	OMIM:618635
HP:0012758	Neurodevelopmental delay	9200	HACD1	OMIM:619967
HP:0012758	Neurodevelopmental delay	9200	HACD1	ORPHA:2020
HP:0012758	Neurodevelopmental delay	3781	KCNN2	OMIM:619725
HP:0012758	Neurodevelopmental delay	3908	LAMA2	ORPHA:258
HP:0012758	Neurodevelopmental delay	3908	LAMA2	OMIM:618138
HP:0012758	Neurodevelopmental delay	3908	LAMA2	OMIM:607855
HP:0012758	Neurodevelopmental delay	2192	FBLN1	ORPHA:404451
HP:0012758	Neurodevelopmental delay	284403	WDR62	OMIM:604317
HP:0012758	Neurodevelopmental delay	6660	SOX5	ORPHA:313892
HP:0012758	Neurodevelopmental delay	7054	TH	OMIM:605407
HP:0012758	Neurodevelopmental delay	7054	TH	ORPHA:101150
HP:0012758	Neurodevelopmental delay	8575	PRKRA	ORPHA:210571
HP:0012758	Neurodevelopmental delay	8575	PRKRA	OMIM:612067
HP:0012758	Neurodevelopmental delay	79147	FKRP	OMIM:606612
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:34515
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:370968
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:370980
HP:0012758	Neurodevelopmental delay	79147	FKRP	OMIM:613153
HP:0012758	Neurodevelopmental delay	55154	MSTO1	OMIM:617675
HP:0012758	Neurodevelopmental delay	55154	MSTO1	ORPHA:502423
HP:0012758	Neurodevelopmental delay	64834	ELOVL1	OMIM:618527
HP:0012758	Neurodevelopmental delay	1777	DNASE2	OMIM:619858
HP:0012758	Neurodevelopmental delay	7528	YY1	OMIM:617557
HP:0012758	Neurodevelopmental delay	9581	PREPL	OMIM:616224
HP:0012758	Neurodevelopmental delay	51319	RSRC1	OMIM:618402
HP:0012758	Neurodevelopmental delay	55699	IARS2	ORPHA:436174
HP:0012758	Neurodevelopmental delay	55699	IARS2	OMIM:616007
HP:0012758	Neurodevelopmental delay	85365	ALG2	OMIM:616228
HP:0012758	Neurodevelopmental delay	85365	ALG2	OMIM:607906
HP:0012758	Neurodevelopmental delay	85365	ALG2	ORPHA:353327
HP:0012758	Neurodevelopmental delay	85465	SELENOI	OMIM:618768
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:101097
HP:0012758	Neurodevelopmental delay	54332	GDAP1	OMIM:214400
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:99948
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:99944
HP:0012758	Neurodevelopmental delay	157680	VPS13B	OMIM:216550
HP:0012758	Neurodevelopmental delay	1277	COL1A1	ORPHA:287
HP:0012758	Neurodevelopmental delay	1289	COL5A1	ORPHA:287
HP:0012758	Neurodevelopmental delay	1290	COL5A2	ORPHA:287
HP:0012758	Neurodevelopmental delay	9401	RECQL4	OMIM:218600
HP:0012758	Neurodevelopmental delay	55149	MTPAP	ORPHA:254343
HP:0012758	Neurodevelopmental delay	1605	DAG1	ORPHA:280333
HP:0012758	Neurodevelopmental delay	84504	NKX6-2	OMIM:617560
HP:0012758	Neurodevelopmental delay	283987	HID1	OMIM:619983
HP:0012758	Neurodevelopmental delay	4330	MN1	OMIM:618774
HP:0012758	Neurodevelopmental delay	1594	CYP27B1	OMIM:264700
HP:0012758	Neurodevelopmental delay	1594	CYP27B1	ORPHA:289157
HP:0012758	Neurodevelopmental delay	7386	UQCRFS1	OMIM:618775
HP:0012758	Neurodevelopmental delay	6712	SPTBN2	OMIM:615386
HP:0012758	Neurodevelopmental delay	23312	DMXL2	OMIM:616113
HP:0012758	Neurodevelopmental delay	84314	TMEM107	OMIM:617563
HP:0012758	Neurodevelopmental delay	57178	ZMIZ1	OMIM:618659
HP:0012758	Neurodevelopmental delay	4632	MYL1	OMIM:618414
HP:0012758	Neurodevelopmental delay	26057	ANKRD17	OMIM:619504
HP:0012758	Neurodevelopmental delay	284439	SLC25A42	OMIM:618416
HP:0012758	Neurodevelopmental delay	492	ATP2B3	ORPHA:314978
HP:0012758	Neurodevelopmental delay	492	ATP2B3	OMIM:302500
HP:0012758	Neurodevelopmental delay	4747	NEFL	ORPHA:101085
HP:0012758	Neurodevelopmental delay	4747	NEFL	ORPHA:99939
HP:0012758	Neurodevelopmental delay	4747	NEFL	OMIM:607684
HP:0012758	Neurodevelopmental delay	4747	NEFL	OMIM:607734
HP:0012758	Neurodevelopmental delay	4747	NEFL	OMIM:617882
HP:0012758	Neurodevelopmental delay	54	ACP5	ORPHA:1855
HP:0012758	Neurodevelopmental delay	4359	MPZ	ORPHA:101082
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:618184
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:180800
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:145900
HP:0012758	Neurodevelopmental delay	1499	CTNNB1	ORPHA:404473
HP:0012758	Neurodevelopmental delay	1499	CTNNB1	ORPHA:891
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:597
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:324581
HP:0012758	Neurodevelopmental delay	6261	RYR1	OMIM:619542
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:424107
HP:0012758	Neurodevelopmental delay	6261	RYR1	OMIM:255320
HP:0012758	Neurodevelopmental delay	6261	RYR1	OMIM:117000
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:169186
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:98905
HP:0012758	Neurodevelopmental delay	26154	ABCA12	OMIM:242500
HP:0012758	Neurodevelopmental delay	11285	B4GALT7	OMIM:130070
HP:0012758	Neurodevelopmental delay	1187	CLCNKA	OMIM:613090
HP:0012758	Neurodevelopmental delay	1187	CLCNKA	ORPHA:89938
HP:0012758	Neurodevelopmental delay	1188	CLCNKB	OMIM:613090
HP:0012758	Neurodevelopmental delay	1188	CLCNKB	ORPHA:89938
HP:0012758	Neurodevelopmental delay	113612	CYP2U1	OMIM:615030
HP:0012758	Neurodevelopmental delay	3572	IL6ST	OMIM:619751
HP:0012758	Neurodevelopmental delay	26038	CHD5	OMIM:619873
HP:0012758	Neurodevelopmental delay	2911	GRM1	OMIM:617691
HP:0012758	Neurodevelopmental delay	8260	NAA10	OMIM:309800
HP:0012758	Neurodevelopmental delay	54880	BCOR	OMIM:309800
HP:0012758	Neurodevelopmental delay	54880	BCOR	OMIM:300166
HP:0012758	Neurodevelopmental delay	55621	TRMT1	OMIM:618302
HP:0012758	Neurodevelopmental delay	23126	POGZ	OMIM:616364
HP:0012758	Neurodevelopmental delay	57680	CHD8	OMIM:615032
HP:0012758	Neurodevelopmental delay	120227	CYP2R1	ORPHA:289157
HP:0012758	Neurodevelopmental delay	9453	GGPS1	OMIM:619518
HP:0012758	Neurodevelopmental delay	9841	ZBTB24	OMIM:614069
HP:0012758	Neurodevelopmental delay	51692	CPSF3	OMIM:619876
HP:0012758	Neurodevelopmental delay	6638	SNRPN	OMIM:105830
HP:0012758	Neurodevelopmental delay	7337	UBE3A	OMIM:105830
HP:0012758	Neurodevelopmental delay	58	ACTA1	OMIM:161800
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:171433
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:171430
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:2020
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:171439
HP:0012758	Neurodevelopmental delay	1859	DYRK1A	ORPHA:464311
HP:0012758	Neurodevelopmental delay	9289	ADGRG1	ORPHA:101070
HP:0012758	Neurodevelopmental delay	9289	ADGRG1	OMIM:615752
HP:0012758	Neurodevelopmental delay	5728	PTEN	ORPHA:101070
HP:0012758	Neurodevelopmental delay	5728	PTEN	ORPHA:79076
HP:0012758	Neurodevelopmental delay	8898	MTMR2	OMIM:601382
HP:0012758	Neurodevelopmental delay	111	ADCY5	OMIM:606703
HP:0012758	Neurodevelopmental delay	111	ADCY5	OMIM:619647
HP:0012758	Neurodevelopmental delay	8314	BAP1	OMIM:619762
HP:0012758	Neurodevelopmental delay	1615	DARS1	OMIM:615281
HP:0012758	Neurodevelopmental delay	27086	FOXP1	ORPHA:391372
HP:0012758	Neurodevelopmental delay	27086	FOXP1	OMIM:613670
HP:0012758	Neurodevelopmental delay	253959	RALGAPA1	OMIM:618797
HP:0012758	Neurodevelopmental delay	6329	SCN4A	OMIM:614198
HP:0012758	Neurodevelopmental delay	51098	IFT52	OMIM:617102
HP:0012758	Neurodevelopmental delay	59336	PRDM13	OMIM:619761
HP:0012758	Neurodevelopmental delay	59336	PRDM13	OMIM:619909
HP:0012758	Neurodevelopmental delay	6942	TCF20	OMIM:618430
HP:0012758	Neurodevelopmental delay	56947	MFF	ORPHA:485421
HP:0012758	Neurodevelopmental delay	56947	MFF	OMIM:617086
HP:0012758	Neurodevelopmental delay	9772	TMEM94	OMIM:618316
HP:0012758	Neurodevelopmental delay	2558	GABRA5	OMIM:618559
HP:0012758	Neurodevelopmental delay	51341	ZBTB7A	OMIM:619769
HP:0012758	Neurodevelopmental delay	6901	TAFAZZIN	OMIM:302060
HP:0012758	Neurodevelopmental delay	9968	MED12	OMIM:305450
HP:0012758	Neurodevelopmental delay	6925	TCF4	OMIM:610954
HP:0012758	Neurodevelopmental delay	124583	CANT1	OMIM:251450
HP:0012758	Neurodevelopmental delay	38	ACAT1	ORPHA:134
HP:0012758	Neurodevelopmental delay	487	ATP2A1	OMIM:601003
HP:0012758	Neurodevelopmental delay	57724	EPG5	OMIM:242840
HP:0012758	Neurodevelopmental delay	23299	BICD2	OMIM:615290
HP:0012758	Neurodevelopmental delay	23299	BICD2	OMIM:618291
HP:0012758	Neurodevelopmental delay	23299	BICD2	ORPHA:363454
HP:0012758	Neurodevelopmental delay	51651	PTRH2	OMIM:616263
HP:0012758	Neurodevelopmental delay	51651	PTRH2	ORPHA:456312
HP:0012758	Neurodevelopmental delay	7143	TNR	OMIM:619653
HP:0012758	Neurodevelopmental delay	3978	LIG1	OMIM:619774
HP:0012758	Neurodevelopmental delay	6843	VAMP1	OMIM:618323
HP:0012758	Neurodevelopmental delay	6843	VAMP1	ORPHA:98914
HP:0012758	Neurodevelopmental delay	5917	RARS1	OMIM:616140
HP:0012758	Neurodevelopmental delay	4123	MAN2C1	OMIM:619775
HP:0012758	Neurodevelopmental delay	54941	RNF125	OMIM:616260
HP:0012758	Neurodevelopmental delay	9922	IQSEC1	OMIM:618687
HP:0012758	Neurodevelopmental delay	259232	NALCN	OMIM:616266
HP:0012758	Neurodevelopmental delay	259232	NALCN	ORPHA:371364
HP:0012758	Neurodevelopmental delay	57479	PRR12	OMIM:619539
HP:0012758	Neurodevelopmental delay	84168	ANTXR1	OMIM:230740
HP:0012758	Neurodevelopmental delay	2006	ELN	ORPHA:90348
HP:0012758	Neurodevelopmental delay	10516	FBLN5	ORPHA:90348
HP:0012758	Neurodevelopmental delay	10516	FBLN5	ORPHA:90349
HP:0012758	Neurodevelopmental delay	5832	ALDH18A1	ORPHA:90348
HP:0012758	Neurodevelopmental delay	5832	ALDH18A1	ORPHA:447760
HP:0012758	Neurodevelopmental delay	4052	LTBP1	ORPHA:90349
HP:0012758	Neurodevelopmental delay	30008	EFEMP2	ORPHA:90349
HP:0012758	Neurodevelopmental delay	374969	SVBP	OMIM:618569
HP:0012758	Neurodevelopmental delay	51062	ATL1	OMIM:182600
HP:0012758	Neurodevelopmental delay	51062	ATL1	ORPHA:100984
HP:0012758	Neurodevelopmental delay	51322	WAC	ORPHA:466950
HP:0012758	Neurodevelopmental delay	51322	WAC	ORPHA:284169
HP:0012758	Neurodevelopmental delay	5836	PYGL	ORPHA:369
HP:0012758	Neurodevelopmental delay	79628	SH3TC2	OMIM:601596
HP:0012758	Neurodevelopmental delay	25970	SH2B1	ORPHA:261197
HP:0012758	Neurodevelopmental delay	57505	AARS2	OMIM:614096
HP:0012758	Neurodevelopmental delay	51645	PPIL1	OMIM:619301
HP:0012758	Neurodevelopmental delay	8621	CDK13	OMIM:617360
HP:0012758	Neurodevelopmental delay	1523	CUX1	OMIM:618330
HP:0012758	Neurodevelopmental delay	55151	TMEM38B	OMIM:615066
HP:0012758	Neurodevelopmental delay	93587	TRMT10A	OMIM:616033
HP:0012758	Neurodevelopmental delay	5081	PAX7	OMIM:618578
HP:0012758	Neurodevelopmental delay	389827	MYMK	OMIM:254940
HP:0012758	Neurodevelopmental delay	7273	TTN	OMIM:611705
HP:0012758	Neurodevelopmental delay	7273	TTN	ORPHA:169186
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	OMIM:610978
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	ORPHA:209905
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	OMIM:118700
HP:0012758	Neurodevelopmental delay	59341	TRPV4	OMIM:181405
HP:0012758	Neurodevelopmental delay	5813	PURA	ORPHA:314655
HP:0012758	Neurodevelopmental delay	54808	DYM	ORPHA:239
HP:0012758	Neurodevelopmental delay	3480	IGF1R	ORPHA:73273
HP:0012758	Neurodevelopmental delay	3480	IGF1R	OMIM:270450
HP:0012758	Neurodevelopmental delay	3479	IGF1	ORPHA:73272
HP:0012758	Neurodevelopmental delay	3479	IGF1	OMIM:608747
HP:0012758	Neurodevelopmental delay	9361	LONP1	OMIM:600373
HP:0012758	Neurodevelopmental delay	4921	DDR2	OMIM:271665
HP:0012758	Neurodevelopmental delay	57526	PCDH19	ORPHA:101039
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:254531
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:254525
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:96184
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:254531
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:254525
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:96184
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:254531
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:254525
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:96184
HP:0012758	Neurodevelopmental delay	3912	LAMB1	OMIM:615191
HP:0012758	Neurodevelopmental delay	23111	SPART	OMIM:275900
HP:0012758	Neurodevelopmental delay	23111	SPART	ORPHA:101000
HP:0012758	Neurodevelopmental delay	4558	MT-TF	ORPHA:550
HP:0012758	Neurodevelopmental delay	4572	MT-TQ	ORPHA:550
HP:0012758	Neurodevelopmental delay	4512	MT-CO1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4513	MT-CO2	ORPHA:550
HP:0012758	Neurodevelopmental delay	4514	MT-CO3	ORPHA:550
HP:0012758	Neurodevelopmental delay	4578	MT-TW	ORPHA:550
HP:0012758	Neurodevelopmental delay	4540	MT-ND5	ORPHA:550
HP:0012758	Neurodevelopmental delay	4541	MT-ND6	ORPHA:550
HP:0012758	Neurodevelopmental delay	4535	MT-ND1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4538	MT-ND4	ORPHA:550
HP:0012758	Neurodevelopmental delay	4567	MT-TL1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4574	MT-TS1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4574	MT-TS1	OMIM:220110
HP:0012758	Neurodevelopmental delay	4575	MT-TS2	ORPHA:550
HP:0012758	Neurodevelopmental delay	4564	MT-TH	ORPHA:550
HP:0012758	Neurodevelopmental delay	1281	COL3A1	OMIM:618343
HP:0012758	Neurodevelopmental delay	10466	COG5	ORPHA:263487
HP:0012758	Neurodevelopmental delay	10466	COG5	OMIM:613612
HP:0012758	Neurodevelopmental delay	23013	SPEN	OMIM:619312
HP:0012758	Neurodevelopmental delay	1291	COL6A1	OMIM:254090
HP:0012758	Neurodevelopmental delay	1291	COL6A1	OMIM:158810
HP:0012758	Neurodevelopmental delay	1292	COL6A2	OMIM:254090
HP:0012758	Neurodevelopmental delay	1292	COL6A2	OMIM:158810
HP:0012758	Neurodevelopmental delay	1293	COL6A3	OMIM:254090
HP:0012758	Neurodevelopmental delay	1293	COL6A3	OMIM:158810
HP:0012758	Neurodevelopmental delay	84894	LINGO1	OMIM:618103
HP:0012758	Neurodevelopmental delay	6477	SIAH1	OMIM:619314
HP:0012758	Neurodevelopmental delay	127833	SYT2	OMIM:616040
HP:0012758	Neurodevelopmental delay	127833	SYT2	ORPHA:98914
HP:0012758	Neurodevelopmental delay	23345	SYNE1	ORPHA:88644
HP:0012758	Neurodevelopmental delay	23345	SYNE1	ORPHA:319332
HP:0012758	Neurodevelopmental delay	123606	NIPA1	ORPHA:261183
HP:0012758	Neurodevelopmental delay	7283	TUBG1	ORPHA:261183
HP:0012758	Neurodevelopmental delay	81614	NIPA2	ORPHA:261183
HP:0012758	Neurodevelopmental delay	54517	PUS7	OMIM:618342
HP:0012758	Neurodevelopmental delay	85476	GFM1	OMIM:609060
HP:0012758	Neurodevelopmental delay	10785	WDR4	OMIM:618347
HP:0012758	Neurodevelopmental delay	4967	OGDH	OMIM:203740
HP:0012758	Neurodevelopmental delay	4720	NDUFS2	OMIM:618228
HP:0012758	Neurodevelopmental delay	203547	VMA21	OMIM:310440
HP:0012758	Neurodevelopmental delay	9256	TSPOAP1	ORPHA:101150
HP:0012758	Neurodevelopmental delay	4703	NEB	OMIM:256030
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171433
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171430
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171439
HP:0012758	Neurodevelopmental delay	2200	FBN1	ORPHA:284979
HP:0012758	Neurodevelopmental delay	2200	FBN1	OMIM:616914
HP:0012758	Neurodevelopmental delay	7253	TSHR	ORPHA:424
HP:0012758	Neurodevelopmental delay	7253	TSHR	OMIM:609152
HP:0012758	Neurodevelopmental delay	7253	TSHR	ORPHA:99819
HP:0012758	Neurodevelopmental delay	7681	MKRN3	OMIM:176270
HP:0012758	Neurodevelopmental delay	3653	IPW	OMIM:176270
HP:0012758	Neurodevelopmental delay	54551	MAGEL2	OMIM:176270
HP:0012758	Neurodevelopmental delay	54551	MAGEL2	ORPHA:398069
HP:0012758	Neurodevelopmental delay	791114	PWRN1	OMIM:176270
HP:0012758	Neurodevelopmental delay	100033413	SNORD116-1	OMIM:176270
HP:0012758	Neurodevelopmental delay	8924	HERC2	OMIM:176270
HP:0012758	Neurodevelopmental delay	145624	PWAR1	OMIM:176270
HP:0012758	Neurodevelopmental delay	23742	NPAP1	OMIM:176270
HP:0012758	Neurodevelopmental delay	338433	SNORD115-1	OMIM:176270
HP:0012758	Neurodevelopmental delay	3785	KCNQ2	OMIM:121200
HP:0012758	Neurodevelopmental delay	5745	PTH1R	OMIM:600002
HP:0012758	Neurodevelopmental delay	1120	CHKB	OMIM:602541
HP:0012758	Neurodevelopmental delay	6548	SLC9A1	OMIM:616291
HP:0012758	Neurodevelopmental delay	2581	GALC	ORPHA:206443
HP:0012758	Neurodevelopmental delay	10397	NDRG1	OMIM:601455
HP:0012758	Neurodevelopmental delay	10397	NDRG1	ORPHA:99950
HP:0012758	Neurodevelopmental delay	60482	SLC5A7	OMIM:617143
HP:0012758	Neurodevelopmental delay	60482	SLC5A7	ORPHA:98914
HP:0012758	Neurodevelopmental delay	26275	HIBCH	ORPHA:88639
HP:0012758	Neurodevelopmental delay	26275	HIBCH	OMIM:250620
HP:0012758	Neurodevelopmental delay	81790	RNF170	OMIM:619686
HP:0012758	Neurodevelopmental delay	55182	RNF220	OMIM:619688
HP:0012758	Neurodevelopmental delay	63895	PIEZO2	OMIM:617146
HP:0012758	Neurodevelopmental delay	443	ASPA	ORPHA:314918
HP:0012758	Neurodevelopmental delay	443	ASPA	ORPHA:314911
HP:0012758	Neurodevelopmental delay	6492	SIM1	ORPHA:398079
HP:0012758	Neurodevelopmental delay	1363	CPE	OMIM:619326
HP:0012758	Neurodevelopmental delay	7846	TUBA1A	OMIM:611603
HP:0012758	Neurodevelopmental delay	3767	KCNJ11	ORPHA:99885
HP:0012758	Neurodevelopmental delay	6774	STAT3	ORPHA:99885
HP:0012758	Neurodevelopmental delay	2645	GCK	ORPHA:99885
HP:0012758	Neurodevelopmental delay	3651	PDX1	ORPHA:99885
HP:0012758	Neurodevelopmental delay	6833	ABCC8	ORPHA:99885
HP:0012758	Neurodevelopmental delay	6833	ABCC8	OMIM:618857
HP:0012758	Neurodevelopmental delay	3630	INS	ORPHA:99885
HP:0012758	Neurodevelopmental delay	10166	SLC25A15	OMIM:238970
HP:0012758	Neurodevelopmental delay	3417	IDH1	ORPHA:99646
HP:0012758	Neurodevelopmental delay	79158	GNPTAB	ORPHA:576
HP:0012758	Neurodevelopmental delay	29954	POMT2	ORPHA:370968
HP:0012758	Neurodevelopmental delay	29954	POMT2	OMIM:613156
HP:0012758	Neurodevelopmental delay	29954	POMT2	OMIM:613158
HP:0012758	Neurodevelopmental delay	9215	LARGE1	ORPHA:370968
HP:0012758	Neurodevelopmental delay	9215	LARGE1	OMIM:608840
HP:0012758	Neurodevelopmental delay	10585	POMT1	ORPHA:370968
HP:0012758	Neurodevelopmental delay	10585	POMT1	ORPHA:370980
HP:0012758	Neurodevelopmental delay	10585	POMT1	OMIM:609308
HP:0012758	Neurodevelopmental delay	57190	SELENON	OMIM:602771
HP:0012758	Neurodevelopmental delay	57190	SELENON	ORPHA:2020
HP:0012758	Neurodevelopmental delay	55777	MBD5	OMIM:156200
HP:0012758	Neurodevelopmental delay	1741	DLG3	OMIM:300850
HP:0012758	Neurodevelopmental delay	5980	REV3L	ORPHA:570
HP:0012758	Neurodevelopmental delay	23129	PLXND1	ORPHA:570
HP:0012758	Neurodevelopmental delay	4784	NFIX	OMIM:602535
HP:0012758	Neurodevelopmental delay	4784	NFIX	ORPHA:447980
HP:0012758	Neurodevelopmental delay	4784	NFIX	OMIM:614753
HP:0012758	Neurodevelopmental delay	55967	NDUFA12	OMIM:618244
HP:0012758	Neurodevelopmental delay	57551	TAOK1	OMIM:619575
HP:0012758	Neurodevelopmental delay	25929	GEMIN5	OMIM:619333
HP:0012758	Neurodevelopmental delay	7084	TK2	ORPHA:254875
HP:0012758	Neurodevelopmental delay	4621	MYH3	OMIM:193700
HP:0012758	Neurodevelopmental delay	8888	MCM3AP	OMIM:618124
HP:0012758	Neurodevelopmental delay	9469	CHST3	ORPHA:263463
HP:0012758	Neurodevelopmental delay	9469	CHST3	OMIM:245600
HP:0012758	Neurodevelopmental delay	51434	ANAPC7	OMIM:619699
HP:0012758	Neurodevelopmental delay	4128	MAOA	OMIM:300615
HP:0012758	Neurodevelopmental delay	92255	LMBRD2	OMIM:619694
HP:0012758	Neurodevelopmental delay	7170	TPM3	OMIM:609284
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171433
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171881
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:2020
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171439
HP:0012758	Neurodevelopmental delay	7169	TPM2	OMIM:609285
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:171881
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:2020
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:171439
HP:0012758	Neurodevelopmental delay	1280	COL2A1	ORPHA:94068
HP:0012758	Neurodevelopmental delay	1280	COL2A1	OMIM:156550
HP:0012758	Neurodevelopmental delay	4647	MYO7A	OMIM:276900
HP:0012758	Neurodevelopmental delay	10083	USH1C	OMIM:276900
HP:0012758	Neurodevelopmental delay	3913	LAMB2	OMIM:609049
HP:0012758	Neurodevelopmental delay	549	AUH	OMIM:250950
HP:0012758	Neurodevelopmental delay	23389	MED13L	ORPHA:369891
HP:0012758	Neurodevelopmental delay	23389	MED13L	OMIM:616789
HP:0012758	Neurodevelopmental delay	55750	AGK	OMIM:212350
HP:0012758	Neurodevelopmental delay	5805	PTS	ORPHA:13
HP:0012758	Neurodevelopmental delay	2898	GRIK2	OMIM:619580
HP:0012758	Neurodevelopmental delay	1781	DYNC1I2	OMIM:618492
HP:0012758	Neurodevelopmental delay	112812	FDX2	OMIM:251900
HP:0012758	Neurodevelopmental delay	7809	BSND	OMIM:602522
HP:0012758	Neurodevelopmental delay	7809	BSND	ORPHA:89938
HP:0012758	Neurodevelopmental delay	9509	ADAMTS2	OMIM:225410
HP:0012758	Neurodevelopmental delay	84892	POMGNT2	OMIM:618135
HP:0012758	Neurodevelopmental delay	372	ARCN1	OMIM:617164
HP:0012758	Neurodevelopmental delay	9757	KMT2B	OMIM:617284
HP:0012758	Neurodevelopmental delay	23522	KAT6B	OMIM:603736
HP:0012758	Neurodevelopmental delay	80173	IFT74	OMIM:619582
HP:0012758	Neurodevelopmental delay	2705	GJB1	OMIM:302800
HP:0012758	Neurodevelopmental delay	2705	GJB1	ORPHA:1175
HP:0012758	Neurodevelopmental delay	6304	SATB1	OMIM:619228
HP:0012758	Neurodevelopmental delay	6304	SATB1	OMIM:619229
HP:0012758	Neurodevelopmental delay	84668	HYCC1	OMIM:610532
HP:0012758	Neurodevelopmental delay	2218	FKTN	ORPHA:370980
HP:0012758	Neurodevelopmental delay	2218	FKTN	OMIM:611588
HP:0012758	Neurodevelopmental delay	2218	FKTN	OMIM:613152
HP:0012758	Neurodevelopmental delay	729920	CRPPA	ORPHA:370980
HP:0012758	Neurodevelopmental delay	79644	SRD5A3	OMIM:612713
HP:0012758	Neurodevelopmental delay	79644	SRD5A3	OMIM:612379
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	OMIM:613925
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	OMIM:613926
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	OMIM:604004
HP:0012758	Neurodevelopmental delay	23594	ORC6	OMIM:613803
HP:0012758	Neurodevelopmental delay	1756	DMD	ORPHA:98896
HP:0012758	Neurodevelopmental delay	8425	LTBP4	ORPHA:98896
HP:0012758	Neurodevelopmental delay	5727	PTCH1	OMIM:109400
HP:0012758	Neurodevelopmental delay	84065	TMEM222	OMIM:619470
HP:0012758	Neurodevelopmental delay	10771	ZMYND11	OMIM:616083
HP:0012758	Neurodevelopmental delay	10522	DEAF1	OMIM:617171
HP:0012758	Neurodevelopmental delay	10522	DEAF1	OMIM:615828
HP:0012758	Neurodevelopmental delay	11212	PLPBP	OMIM:617290
HP:0012758	Neurodevelopmental delay	84265	POLR3GL	OMIM:619234
HP:0012758	Neurodevelopmental delay	54809	SAMD9	OMIM:617053
HP:0012758	Neurodevelopmental delay	134218	DNAJC21	OMIM:617052
HP:0012758	Neurodevelopmental delay	5977	DPF2	OMIM:618027
HP:0012758	Neurodevelopmental delay	10526	IPO8	OMIM:619472
HP:0012758	Neurodevelopmental delay	2892	GRIA3	ORPHA:364028
HP:0012758	Neurodevelopmental delay	10846	PDE10A	ORPHA:494526
HP:0012758	Neurodevelopmental delay	10846	PDE10A	OMIM:616921
HP:0012758	Neurodevelopmental delay	3839	KPNA3	OMIM:620106
HP:0012758	Neurodevelopmental delay	8452	CUL3	OMIM:619239
HP:0012758	Neurodevelopmental delay	3032	HADHB	ORPHA:746
HP:0012758	Neurodevelopmental delay	3030	HADHA	ORPHA:746
HP:0012758	Neurodevelopmental delay	4534	MTM1	OMIM:310400
HP:0012758	Neurodevelopmental delay	246329	STAC3	ORPHA:168572
HP:0012758	Neurodevelopmental delay	246329	STAC3	OMIM:255995
HP:0012758	Neurodevelopmental delay	2887	GRB10	ORPHA:96182
HP:0012758	Neurodevelopmental delay	25839	COG4	OMIM:618150
HP:0012758	Neurodevelopmental delay	113189	CHST14	OMIM:601776
HP:0012758	Neurodevelopmental delay	51360	MBTPS2	OMIM:308205
HP:0012758	Neurodevelopmental delay	84197	POMK	OMIM:616094
HP:0012758	Neurodevelopmental delay	7204	TRIO	OMIM:617061
HP:0012758	Neurodevelopmental delay	10681	GNB5	OMIM:617182
HP:0012758	Neurodevelopmental delay	3636	INPPL1	OMIM:258480
HP:0012758	Neurodevelopmental delay	22978	NT5C2	ORPHA:320396
HP:0012758	Neurodevelopmental delay	22978	NT5C2	OMIM:613162
HP:0012758	Neurodevelopmental delay	9325	TRIP4	OMIM:617066
HP:0012758	Neurodevelopmental delay	9325	TRIP4	ORPHA:486815
HP:0012758	Neurodevelopmental delay	203068	TUBB	OMIM:156610
HP:0012758	Neurodevelopmental delay	285590	SH3PXD2B	OMIM:249420
HP:0012758	Neurodevelopmental delay	8567	MADD	OMIM:619004
HP:0012758	Neurodevelopmental delay	8567	MADD	OMIM:619005
HP:0012758	Neurodevelopmental delay	374354	NHLRC2	OMIM:618278
HP:0012758	Neurodevelopmental delay	4841	NONO	OMIM:300967
HP:0012758	Neurodevelopmental delay	6197	RPS6KA3	OMIM:300844
HP:0012758	Neurodevelopmental delay	23287	AGTPBP1	OMIM:618276
HP:0012758	Neurodevelopmental delay	23287	AGTPBP1	ORPHA:2254
HP:0012758	Neurodevelopmental delay	3557	IL1RN	OMIM:612852
HP:0012758	Neurodevelopmental delay	50485	SMARCAL1	OMIM:242900
HP:0012758	Neurodevelopmental delay	118924	FRA10AC1	OMIM:620113
HP:0012758	Neurodevelopmental delay	4322	MMP13	OMIM:250400
HP:0012758	Neurodevelopmental delay	10551	AGR2	OMIM:620233
HP:0012758	Neurodevelopmental delay	9759	HDAC4	OMIM:600430
HP:0012758	Neurodevelopmental delay	745	MYRF	OMIM:618280
HP:0012758	Neurodevelopmental delay	4693	NDP	ORPHA:891
HP:0012758	Neurodevelopmental delay	23554	TSPAN12	ORPHA:891
HP:0012758	Neurodevelopmental delay	4041	LRP5	ORPHA:891
HP:0012758	Neurodevelopmental delay	79797	ZNF408	ORPHA:891
HP:0012758	Neurodevelopmental delay	8322	FZD4	ORPHA:891
HP:0012758	Neurodevelopmental delay	2629	GBA1	ORPHA:2072
HP:0012758	Neurodevelopmental delay	2629	GBA1	OMIM:231000
HP:0012758	Neurodevelopmental delay	11014	KDELR2	OMIM:619131
HP:0012758	Neurodevelopmental delay	84231	TRAF7	OMIM:618164
HP:0012758	Neurodevelopmental delay	4781	NFIB	OMIM:618286
HP:0012758	Neurodevelopmental delay	89970	RSPRY1	ORPHA:457395
HP:0012758	Neurodevelopmental delay	89970	RSPRY1	OMIM:616723
HP:0012758	Neurodevelopmental delay	100	ADA	OMIM:102700
HP:0012758	Neurodevelopmental delay	2733	GLE1	OMIM:611890
HP:0012758	Neurodevelopmental delay	8831	SYNGAP1	OMIM:612621
HP:0012758	Neurodevelopmental delay	5236	PGM1	OMIM:614921
HP:0012758	Neurodevelopmental delay	54187	NANS	OMIM:610442
HP:0012758	Neurodevelopmental delay	9997	SCO2	ORPHA:521411
HP:0012758	Neurodevelopmental delay	138050	HGSNAT	OMIM:252930
HP:0012758	Neurodevelopmental delay	779	CACNA1S	OMIM:620246
HP:0012758	Neurodevelopmental delay	51082	POLR1D	OMIM:613717
HP:0012758	Neurodevelopmental delay	124093	CCDC78	OMIM:614807
HP:0012758	Neurodevelopmental delay	11011	TLK2	OMIM:618050
HP:0012758	Neurodevelopmental delay	64432	MRPS25	OMIM:619025
HP:0012758	Neurodevelopmental delay	84842	HPDL	OMIM:619026
HP:0012758	Neurodevelopmental delay	27072	VPS41	OMIM:619389
HP:0012758	Neurodevelopmental delay	90523	MLIP	OMIM:620138
HP:0012758	Neurodevelopmental delay	5256	PHKA2	OMIM:306000
HP:0012758	Neurodevelopmental delay	161742	SPRED1	ORPHA:137605
HP:0012758	Neurodevelopmental delay	2690	GHR	ORPHA:633
HP:0012758	Neurodevelopmental delay	121340	SP7	OMIM:613849
HP:0012758	Neurodevelopmental delay	6095	RORA	OMIM:618060
HP:0012758	Neurodevelopmental delay	4702	NDUFA8	OMIM:619272
HP:0012758	Neurodevelopmental delay	27183	VPS4A	OMIM:619273
HP:0012758	Neurodevelopmental delay	8450	CUL4B	OMIM:300354
HP:0012758	Neurodevelopmental delay	6535	SLC6A8	OMIM:300352
HP:0012758	Neurodevelopmental delay	51102	MECR	ORPHA:508093
HP:0012758	Neurodevelopmental delay	4570	MT-TN	OMIM:220110
HP:0012758	Neurodevelopmental delay	6834	SURF1	OMIM:220110
HP:0012758	Neurodevelopmental delay	23019	CNOT1	OMIM:619033
HP:0012758	Neurodevelopmental delay	55503	TRPV6	OMIM:618188
HP:0012758	Neurodevelopmental delay	27178	IL37	OMIM:619398
HP:0012758	Neurodevelopmental delay	775	CACNA1C	OMIM:620029
HP:0012758	Neurodevelopmental delay	8496	PPFIBP1	OMIM:620024
HP:0012758	Neurodevelopmental delay	51816	ADA2	ORPHA:820
HP:0012758	Neurodevelopmental delay	9839	ZEB2	OMIM:235730
HP:0012758	Neurodevelopmental delay	5376	PMP22	OMIM:180800
HP:0012758	Neurodevelopmental delay	5376	PMP22	OMIM:145900
HP:0012758	Neurodevelopmental delay	4758	NEU1	ORPHA:93399
HP:0012758	Neurodevelopmental delay	10093	ARPC4	OMIM:620141
HP:0012758	Neurodevelopmental delay	2617	GARS1	OMIM:619042
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171433
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171430
HP:0012758	Neurodevelopmental delay	10324	KLHL41	OMIM:615731
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171439
HP:0012758	Neurodevelopmental delay	89910	UBE3B	OMIM:244450
HP:0012758	Neurodevelopmental delay	6576	SLC25A1	OMIM:618197
HP:0012758	Neurodevelopmental delay	6576	SLC25A1	ORPHA:98914
HP:0012758	Neurodevelopmental delay	9442	MED27	OMIM:619286
HP:0012758	Neurodevelopmental delay	131377	KLHL40	ORPHA:171430
HP:0012758	Neurodevelopmental delay	56203	LMOD3	ORPHA:171430
HP:0012758	Neurodevelopmental delay	4649	MYO9A	OMIM:618198
HP:0012758	Neurodevelopmental delay	4649	MYO9A	ORPHA:98914
HP:0012758	Neurodevelopmental delay	4010	LMX1B	ORPHA:495818
HP:0012758	Neurodevelopmental delay	6812	STXBP1	ORPHA:495818
HP:0012758	Neurodevelopmental delay	9640	ZNF592	ORPHA:83472
HP:0012758	Neurodevelopmental delay	84942	WDR73	ORPHA:83472
HP:0012758	Neurodevelopmental delay	80055	PGAP1	OMIM:615802
HP:0012758	Neurodevelopmental delay	6507	SLC1A3	OMIM:612656
HP:0012758	Neurodevelopmental delay	5689	PSMB1	OMIM:620038
HP:0012758	Neurodevelopmental delay	1798	DPAGT1	ORPHA:353327
HP:0012758	Neurodevelopmental delay	1798	DPAGT1	OMIM:614750
HP:0012758	Neurodevelopmental delay	199857	ALG14	ORPHA:353327
HP:0012758	Neurodevelopmental delay	7125	TNNC2	OMIM:620161
HP:0012758	Neurodevelopmental delay	51324	SPG21	OMIM:248900
HP:0012758	Neurodevelopmental delay	1185	CLCN6	OMIM:619173
HP:0012758	Neurodevelopmental delay	64324	NSD1	OMIM:117550
HP:0012758	Neurodevelopmental delay	84665	MYPN	ORPHA:171881
HP:0012758	Neurodevelopmental delay	84665	MYPN	ORPHA:171439
HP:0012758	Neurodevelopmental delay	9739	SETD1A	OMIM:619056
HP:0012758	Neurodevelopmental delay	274	BIN1	OMIM:255200
HP:0012758	Neurodevelopmental delay	274	BIN1	ORPHA:169186
HP:0012758	Neurodevelopmental delay	1757	SARDH	ORPHA:3129
HP:0012758	Neurodevelopmental delay	191	AHCY	OMIM:613752
HP:0012758	Neurodevelopmental delay	55157	DARS2	ORPHA:137898
HP:0012758	Neurodevelopmental delay	55157	DARS2	OMIM:611105
HP:0012758	Neurodevelopmental delay	8792	TNFRSF11A	OMIM:612301
HP:0012758	Neurodevelopmental delay	5631	PRPS1	ORPHA:1187
HP:0012758	Neurodevelopmental delay	5631	PRPS1	OMIM:300661
HP:0012758	Neurodevelopmental delay	5631	PRPS1	OMIM:311070
HP:0012758	Neurodevelopmental delay	36	ACADSB	OMIM:610006
HP:0012758	Neurodevelopmental delay	8546	AP3B1	OMIM:608233
HP:0012758	Neurodevelopmental delay	56984	PSMG2	OMIM:619183
HP:0012758	Neurodevelopmental delay	8802	SUCLG1	OMIM:245400
HP:0012758	Neurodevelopmental delay	100303755	PET117	OMIM:619063
HP:0012758	Neurodevelopmental delay	64919	BCL11B	OMIM:618092
HP:0012758	Neurodevelopmental delay	4633	MYL2	ORPHA:2020
HP:0012758	Neurodevelopmental delay	3679	ITGA7	ORPHA:2020
HP:0012758	Neurodevelopmental delay	3679	ITGA7	OMIM:613204
HP:0012758	Neurodevelopmental delay	51776	MAP3K20	ORPHA:2020
HP:0012758	Neurodevelopmental delay	51776	MAP3K20	OMIM:617760
HP:0012758	Neurodevelopmental delay	4697	NDUFA4	OMIM:619065
HP:0012758	Neurodevelopmental delay	60	ACTB	OMIM:607371
HP:0012758	Neurodevelopmental delay	11284	PNKP	OMIM:613402
HP:0012758	Neurodevelopmental delay	55636	CHD7	OMIM:214800
HP:0012758	Neurodevelopmental delay	3070	HELLS	OMIM:616911
HP:0012758	Neurodevelopmental delay	657	BMPR1A	ORPHA:79076
HP:0012758	Neurodevelopmental delay	10382	TUBB4A	OMIM:612438
HP:0012758	Neurodevelopmental delay	9711	RUBCN	OMIM:615705
HP:0012758	Neurodevelopmental delay	165	AEBP1	ORPHA:536532
HP:0012758	Neurodevelopmental delay	374654	KIF7	OMIM:607131
HP:0012758	Neurodevelopmental delay	121512	FGD4	OMIM:609311
HP:0012758	Neurodevelopmental delay	7915	ALDH5A1	OMIM:271980
HP:0012758	Neurodevelopmental delay	2743	GLRB	OMIM:614619
HP:0012758	Neurodevelopmental delay	9653	HS2ST1	OMIM:619194
HP:0012758	Neurodevelopmental delay	3735	KARS1	OMIM:619196
HP:0012758	Neurodevelopmental delay	11340	EXOSC8	ORPHA:2254
HP:0012758	Neurodevelopmental delay	5393	EXOSC9	ORPHA:2254
HP:0012758	Neurodevelopmental delay	51010	EXOSC3	ORPHA:2254
HP:0012758	Neurodevelopmental delay	7443	VRK1	ORPHA:2254
HP:0012758	Neurodevelopmental delay	7443	VRK1	OMIM:607596
HP:0012758	Neurodevelopmental delay	91137	SLC25A46	ORPHA:2254
HP:0012758	Neurodevelopmental delay	10290	SPEG	OMIM:615959
HP:0012758	Neurodevelopmental delay	10290	SPEG	ORPHA:169186
HP:0012758	Neurodevelopmental delay	3748	KCNC3	ORPHA:98768
HP:0012758	Neurodevelopmental delay	3748	KCNC3	OMIM:605259
HP:0012758	Neurodevelopmental delay	54499	TMCO1	OMIM:213980
HP:0012758	Neurodevelopmental delay	10518	CIB2	OMIM:614869
HP:0012758	Neurodevelopmental delay	9990	SLC12A6	OMIM:620068
HP:0012758	Neurodevelopmental delay	9990	SLC12A6	OMIM:218000
HP:0012758	Neurodevelopmental delay	64837	KLC2	OMIM:609541
HP:0012758	Neurodevelopmental delay	23137	SMC5	OMIM:620185
HP:0012758	Neurodevelopmental delay	1737	DLAT	OMIM:245348
HP:0012758	Neurodevelopmental delay	3251	HPRT1	OMIM:300322
HP:0012758	Neurodevelopmental delay	6558	SLC12A2	OMIM:619081
HP:0012758	Neurodevelopmental delay	1785	DNM2	OMIM:160150
HP:0012758	Neurodevelopmental delay	64419	MTMR14	OMIM:160150
HP:0012758	Neurodevelopmental delay	79813	EHMT1	ORPHA:261652
HP:0012758	Neurodevelopmental delay	58508	KMT2C	ORPHA:261652
HP:0012758	Neurodevelopmental delay	9321	TRIP11	OMIM:184260
HP:0012758	Neurodevelopmental delay	2548	GAA	ORPHA:308552
HP:0012758	Neurodevelopmental delay	347733	TUBB2B	OMIM:610031
HP:0012758	Neurodevelopmental delay	1028	CDKN1C	ORPHA:397590
HP:0012758	Neurodevelopmental delay	5324	PLAG1	ORPHA:397590
HP:0012758	Neurodevelopmental delay	8091	HMGA2	ORPHA:397590
HP:0012758	Neurodevelopmental delay	284217	LAMA1	OMIM:615960
HP:0012758	Neurodevelopmental delay	5165	PDK3	ORPHA:352675
HP:0012758	Neurodevelopmental delay	10430	TMEM147	OMIM:620075
HP:0012758	Neurodevelopmental delay	5092	PCBD1	OMIM:264070
HP:0012758	Neurodevelopmental delay	8242	KDM5C	OMIM:300534
HP:0012758	Neurodevelopmental delay	51741	WWOX	ORPHA:284282
HP:0012758	Neurodevelopmental delay	6389	SDHA	ORPHA:3208
HP:0012758	Neurodevelopmental delay	6390	SDHB	ORPHA:3208
HP:0012758	Neurodevelopmental delay	6392	SDHD	ORPHA:3208
HP:0012758	Neurodevelopmental delay	644096	SDHAF1	ORPHA:3208
HP:0012758	Neurodevelopmental delay	1374	CPT1A	OMIM:255120
HP:0012758	Neurodevelopmental delay	2261	FGFR3	OMIM:100800
HP:0012758	Neurodevelopmental delay	390594	KBTBD13	ORPHA:171439
HP:0012758	Neurodevelopmental delay	2961	GTF2E2	OMIM:616943
HP:0012758	Neurodevelopmental delay	10815	CPLX1	ORPHA:352582
HP:0012758	Neurodevelopmental delay	57465	TBC1D24	ORPHA:352582
HP:0012758	Neurodevelopmental delay	1384	CRAT	OMIM:617917
HP:0012758	Neurodevelopmental delay	81846	SBF2	ORPHA:99956
HP:0012758	Neurodevelopmental delay	85021	REPS1	OMIM:617916
HP:0012758	Neurodevelopmental delay	57679	ALS2	OMIM:607225
HP:0012758	Neurodevelopmental delay	1487	CTBP1	OMIM:617915
HP:0012758	Neurodevelopmental delay	6509	SLC1A4	ORPHA:447997
HP:0012758	Neurodevelopmental delay	6314	ATXN7	ORPHA:94147
HP:0012758	Neurodevelopmental delay	84978	FRMD5	OMIM:620094
HP:0012758	Neurodevelopmental delay	226	ALDOA	ORPHA:57
HP:0012758	Neurodevelopmental delay	51067	YARS2	OMIM:613561
HP:0012758	Neurodevelopmental delay	91252	SLC39A13	OMIM:612350
HP:0012758	Neurodevelopmental delay	57716	PRX	OMIM:614895
HP:0012758	Neurodevelopmental delay	57716	PRX	OMIM:145900
HP:0012758	Neurodevelopmental delay	2316	FLNA	OMIM:309350
HP:0012758	Neurodevelopmental delay	4208	MEF2C	OMIM:613443
HP:0012758	Neurodevelopmental delay	22907	DHX30	OMIM:617804
HP:0012758	Neurodevelopmental delay	51053	GMNN	OMIM:616835
HP:0012758	Neurodevelopmental delay	7407	VARS1	OMIM:617802
HP:0012758	Neurodevelopmental delay	2719	GPC3	OMIM:312870
HP:0012758	Neurodevelopmental delay	2239	GPC4	OMIM:312870
HP:0012758	Neurodevelopmental delay	4000	LMNA	OMIM:613205
HP:0012758	Neurodevelopmental delay	196528	ARID2	OMIM:617808
HP:0012758	Neurodevelopmental delay	57410	SCYL1	OMIM:616719
HP:0012758	Neurodevelopmental delay	23534	TNPO3	OMIM:608423
HP:0012758	Neurodevelopmental delay	1959	EGR2	OMIM:145900
HP:0012758	Neurodevelopmental delay	1959	EGR2	OMIM:605253
HP:0012758	Neurodevelopmental delay	1861	TOR1A	OMIM:128100
HP:0012758	Neurodevelopmental delay	4976	OPA1	OMIM:210000
HP:0012758	Neurodevelopmental delay	10075	HUWE1	OMIM:309590
HP:0012758	Neurodevelopmental delay	8729	GBF1	OMIM:606483
HP:0012758	Neurodevelopmental delay	6323	SCN1A	OMIM:607208
HP:0012758	Neurodevelopmental delay	579	NKX3-2	OMIM:613330
HP:0012758	Neurodevelopmental delay	9698	PUM1	OMIM:617931
HP:0012758	Neurodevelopmental delay	1305	COL13A1	OMIM:616720
HP:0012758	Neurodevelopmental delay	1305	COL13A1	ORPHA:98914
HP:0012758	Neurodevelopmental delay	2290	FOXG1	OMIM:613454
HP:0012758	Neurodevelopmental delay	23394	ADNP	OMIM:615873
HP:0012758	Neurodevelopmental delay	11133	KPTN	OMIM:615637
HP:0012758	Neurodevelopmental delay	85358	SHANK3	OMIM:606232
HP:0012758	Neurodevelopmental delay	23028	KDM1A	OMIM:616728
HP:0012758	Neurodevelopmental delay	22845	DOLK	ORPHA:91131
HP:0012758	Neurodevelopmental delay	26115	TANC2	OMIM:618906
HP:0012758	Neurodevelopmental delay	9150	CTDP1	OMIM:604168
HP:0012758	Neurodevelopmental delay	55187	VPS13D	OMIM:607317
HP:0012758	Neurodevelopmental delay	4854	NOTCH3	OMIM:130720
HP:0012758	Neurodevelopmental delay	10229	COQ7	OMIM:616733
HP:0012758	Neurodevelopmental delay	1806	DPYD	OMIM:274270
HP:0012758	Neurodevelopmental delay	23291	FBXW11	OMIM:618914
HP:0012758	Neurodevelopmental delay	4893	NRAS	OMIM:613224
HP:0012758	Neurodevelopmental delay	6334	SCN8A	OMIM:614558
HP:0012758	Neurodevelopmental delay	10982	MAPRE2	OMIM:616734
HP:0012758	Neurodevelopmental delay	55033	FKBP14	OMIM:614557
HP:0012758	Neurodevelopmental delay	55033	FKBP14	ORPHA:300179
HP:0012758	Neurodevelopmental delay	3736	KCNA1	ORPHA:37612
HP:0012758	Neurodevelopmental delay	3176	HNMT	OMIM:616739
HP:0012758	Neurodevelopmental delay	2542	SLC37A4	ORPHA:79259
HP:0012758	Neurodevelopmental delay	27235	COQ2	OMIM:607426
HP:0012758	Neurodevelopmental delay	2332	FMR1	ORPHA:449291
HP:0012758	Neurodevelopmental delay	11253	MAN1B1	OMIM:614202
HP:0012758	Neurodevelopmental delay	116150	NUS1	OMIM:617831
HP:0012758	Neurodevelopmental delay	55603	TENT5A	OMIM:617952
HP:0012758	Neurodevelopmental delay	26007	TKFC	OMIM:618805
HP:0012758	Neurodevelopmental delay	4358	MPV17	OMIM:256810
HP:0012758	Neurodevelopmental delay	2058	EPRS1	OMIM:617951
HP:0012758	Neurodevelopmental delay	27315	PGAP2	OMIM:614207
HP:0012758	Neurodevelopmental delay	54974	THG1L	OMIM:618800
HP:0012758	Neurodevelopmental delay	84693	MCEE	OMIM:251120
HP:0012758	Neurodevelopmental delay	54806	AHI1	OMIM:608629
HP:0012758	Neurodevelopmental delay	4982	TNFRSF11B	OMIM:239000
HP:0012758	Neurodevelopmental delay	1641	DCX	OMIM:300067
HP:0012758	Neurodevelopmental delay	478	ATP1A3	ORPHA:71517
HP:0012758	Neurodevelopmental delay	427	ASAH1	OMIM:228000
HP:0012758	Neurodevelopmental delay	7421	VDR	OMIM:277440
HP:0012758	Neurodevelopmental delay	23152	CIC	OMIM:617600
HP:0012758	Neurodevelopmental delay	23395	LARS2	OMIM:615300
HP:0012758	Neurodevelopmental delay	11280	SCN11A	OMIM:615548
HP:0012758	Neurodevelopmental delay	65217	PCDH15	OMIM:602083
HP:0012758	Neurodevelopmental delay	2584	GALK1	ORPHA:79237
HP:0012758	Neurodevelopmental delay	11019	LIAS	OMIM:614462
HP:0012758	Neurodevelopmental delay	10367	MICU1	OMIM:615673
HP:0012758	Neurodevelopmental delay	2588	GALNS	OMIM:253000
HP:0012758	Neurodevelopmental delay	1778	DYNC1H1	OMIM:614228
HP:0012758	Neurodevelopmental delay	8087	FXR1	OMIM:618822
HP:0012758	Neurodevelopmental delay	8087	FXR1	OMIM:618823
HP:0012758	Neurodevelopmental delay	285175	UNC80	ORPHA:371364
HP:0012758	Neurodevelopmental delay	8405	SPOP	OMIM:618828
HP:0012758	Neurodevelopmental delay	8405	SPOP	OMIM:618829
HP:0012758	Neurodevelopmental delay	6697	SPR	ORPHA:70594
HP:0012758	Neurodevelopmental delay	23545	ATP6V0A2	OMIM:219200
HP:0012758	Neurodevelopmental delay	23545	ATP6V0A2	ORPHA:357074
HP:0012758	Neurodevelopmental delay	23209	MLC1	OMIM:604004
HP:0012758	Neurodevelopmental delay	6857	SYT1	ORPHA:522077
HP:0012758	Neurodevelopmental delay	54870	QRICH1	OMIM:617982
HP:0012758	Neurodevelopmental delay	83737	ITCH	OMIM:613385
HP:0012758	Neurodevelopmental delay	283989	TSEN54	ORPHA:2524
HP:0012758	Neurodevelopmental delay	79042	TSEN34	ORPHA:2524
HP:0012758	Neurodevelopmental delay	80746	TSEN2	ORPHA:2524
HP:0012758	Neurodevelopmental delay	51091	SEPSECS	ORPHA:2524
HP:0012758	Neurodevelopmental delay	57688	ZSWIM6	OMIM:617865
HP:0012758	Neurodevelopmental delay	3295	HSD17B4	OMIM:233400
HP:0012758	Neurodevelopmental delay	1103	CHAT	ORPHA:98914
HP:0012758	Neurodevelopmental delay	375790	AGRN	ORPHA:98914
HP:0012758	Neurodevelopmental delay	6572	SLC18A3	ORPHA:98914
HP:0012758	Neurodevelopmental delay	6616	SNAP25	ORPHA:98914
HP:0012758	Neurodevelopmental delay	5261	PHKG2	OMIM:613027
HP:0012758	Neurodevelopmental delay	54676	GTPBP2	OMIM:617988
HP:0012758	Neurodevelopmental delay	3033	HADH	ORPHA:71212
HP:0012758	Neurodevelopmental delay	84628	NTNG2	OMIM:618718
HP:0012758	Neurodevelopmental delay	259266	ASPM	OMIM:608716
HP:0012758	Neurodevelopmental delay	126792	B3GALT6	ORPHA:536467
HP:0012758	Neurodevelopmental delay	126792	B3GALT6	OMIM:615349
HP:0012758	Neurodevelopmental delay	374462	PTPRQ	OMIM:613391
HP:0012758	Neurodevelopmental delay	9320	TRIP12	OMIM:617752
HP:0012758	Neurodevelopmental delay	523	ATP6V1A	ORPHA:357074
HP:0012758	Neurodevelopmental delay	523	ATP6V1A	OMIM:617403
HP:0012758	Neurodevelopmental delay	529	ATP6V1E1	ORPHA:357074
HP:0012758	Neurodevelopmental delay	55624	POMGNT1	OMIM:613151
HP:0012758	Neurodevelopmental delay	55624	POMGNT1	OMIM:613157
HP:0012758	Neurodevelopmental delay	51780	KDM3B	OMIM:618846
HP:0012758	Neurodevelopmental delay	2186	BPTF	OMIM:617755
HP:0012758	Neurodevelopmental delay	57104	PNPLA2	ORPHA:98908
HP:0012758	Neurodevelopmental delay	5879	RAC1	ORPHA:500159
HP:0012758	Neurodevelopmental delay	84700	MYO18B	OMIM:616549
HP:0012758	Neurodevelopmental delay	8777	MPDZ	OMIM:615219
HP:0012758	Neurodevelopmental delay	5718	PSMD12	OMIM:617516
HP:0012758	Neurodevelopmental delay	9939	RBM8A	OMIM:274000
HP:0012758	Neurodevelopmental delay	166929	SGMS2	OMIM:126550
HP:0012758	Neurodevelopmental delay	7138	TNNT1	ORPHA:98902
HP:0012758	Neurodevelopmental delay	4848	CNOT2	OMIM:618608
HP:0012758	Neurodevelopmental delay	8139	GAN	OMIM:256850
HP:0012758	Neurodevelopmental delay	26229	B3GAT3	OMIM:245600
HP:0012758	Neurodevelopmental delay	51733	UPB1	OMIM:613161
HP:0012758	Neurodevelopmental delay	23404	EXOSC2	OMIM:617763
HP:0012758	Neurodevelopmental delay	5087	PBX1	OMIM:617641
HP:0012758	Neurodevelopmental delay	8803	SUCLA2	OMIM:612073
HP:0012758	Neurodevelopmental delay	51763	INPP5K	OMIM:617404
HP:0012758	Neurodevelopmental delay	4858	NOVA2	OMIM:618859
HP:0012758	Neurodevelopmental delay	9181	ARHGEF2	OMIM:617523
HP:0012758	Neurodevelopmental delay	25871	NEPRO	OMIM:618853
HP:0012758	Neurodevelopmental delay	4654	MYOD1	OMIM:618975
HP:0012758	Neurodevelopmental delay	7252	TSHB	OMIM:275100
HP:0012758	Neurodevelopmental delay	55823	VPS11	OMIM:616683
HP:0012758	Neurodevelopmental delay	55823	VPS11	ORPHA:466934
HP:0012758	Neurodevelopmental delay	2775	GNAO1	OMIM:615473
HP:0012758	Neurodevelopmental delay	2775	GNAO1	OMIM:617493
HP:0012758	Neurodevelopmental delay	51569	UFM1	OMIM:617899
HP:0012758	Neurodevelopmental delay	9254	CACNA2D2	OMIM:618501
HP:0012758	Neurodevelopmental delay	7360	UGP2	OMIM:618744
HP:0012758	Neurodevelopmental delay	79848	CSPP1	ORPHA:397715
HP:0012758	Neurodevelopmental delay	9786	KIAA0586	ORPHA:397715
HP:0012758	Neurodevelopmental delay	65993	MRPS34	OMIM:617664
HP:0012758	Neurodevelopmental delay	387787	LIPT2	OMIM:617668
HP:0012758	Neurodevelopmental delay	166378	AFG2A	OMIM:616577
HP:0012758	Neurodevelopmental delay	10565	ARFGEF1	OMIM:619964
HP:0012758	Neurodevelopmental delay	5610	EIF2AK2	OMIM:618877
HP:0012758	Neurodevelopmental delay	3190	HNRNPK	OMIM:616580
HP:0012758	Neurodevelopmental delay	7343	UBTF	OMIM:617672
HP:0012758	Neurodevelopmental delay	7343	UBTF	ORPHA:500180
HP:0012758	Neurodevelopmental delay	150094	SIK1	OMIM:616341
HP:0012758	Neurodevelopmental delay	3064	HTT	OMIM:617435
HP:0012758	Neurodevelopmental delay	81857	MED25	ORPHA:464738
HP:0012758	Neurodevelopmental delay	170825	GSX2	OMIM:618646
HP:0012758	Neurodevelopmental delay	7920	ABHD16A	OMIM:619735
HP:0012758	Neurodevelopmental delay	83480	PUS3	ORPHA:488627
HP:0012758	Neurodevelopmental delay	22884	WDR37	OMIM:618652
HP:0012758	Neurodevelopmental delay	1193	CLIC2	ORPHA:324410
HP:0012758	Neurodevelopmental delay	1193	CLIC2	OMIM:300886
HP:0012758	Neurodevelopmental delay	28514	DLL1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	28514	DLL1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	28514	DLL1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	28514	DLL1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93926
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93924
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93925
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:220386
HP:0012758	Neurodevelopmental delay	6496	SIX3	ORPHA:93926
HP:0012758	Neurodevelopmental delay	6496	SIX3	ORPHA:93924
HP:0012758	Neurodevelopmental delay	6496	SIX3	ORPHA:93925
HP:0012758	Neurodevelopmental delay	6496	SIX3	ORPHA:220386
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93926
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93924
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93925
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:220386
HP:0012758	Neurodevelopmental delay	6469	SHH	ORPHA:93926
HP:0012758	Neurodevelopmental delay	6469	SHH	ORPHA:93924
HP:0012758	Neurodevelopmental delay	6469	SHH	ORPHA:93925
HP:0012758	Neurodevelopmental delay	6469	SHH	ORPHA:220386
HP:0012758	Neurodevelopmental delay	7546	ZIC2	ORPHA:93926
HP:0012758	Neurodevelopmental delay	7546	ZIC2	ORPHA:93924
HP:0012758	Neurodevelopmental delay	7546	ZIC2	ORPHA:93925
HP:0012758	Neurodevelopmental delay	7546	ZIC2	ORPHA:220386
HP:0012758	Neurodevelopmental delay	6491	STIL	ORPHA:93926
HP:0012758	Neurodevelopmental delay	6491	STIL	ORPHA:93924
HP:0012758	Neurodevelopmental delay	6491	STIL	ORPHA:93925
HP:0012758	Neurodevelopmental delay	6491	STIL	OMIM:612703
HP:0012758	Neurodevelopmental delay	6491	STIL	ORPHA:220386
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	2736	GLI2	ORPHA:93926
HP:0012758	Neurodevelopmental delay	2736	GLI2	ORPHA:93924
HP:0012758	Neurodevelopmental delay	2736	GLI2	ORPHA:93925
HP:0012758	Neurodevelopmental delay	2736	GLI2	ORPHA:220386
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	50937	CDON	ORPHA:93926
HP:0012758	Neurodevelopmental delay	50937	CDON	ORPHA:93924
HP:0012758	Neurodevelopmental delay	50937	CDON	ORPHA:93925
HP:0012758	Neurodevelopmental delay	50937	CDON	ORPHA:220386
HP:0012758	Neurodevelopmental delay	23007	PLCH1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	6905	TBCE	OMIM:617207
HP:0012758	Neurodevelopmental delay	5518	PPP2R1A	OMIM:616362
HP:0012758	Neurodevelopmental delay	5518	PPP2R1A	ORPHA:457284
HP:0012758	Neurodevelopmental delay	84879	MFSD2A	OMIM:616486
HP:0012758	Neurodevelopmental delay	27089	UQCRQ	OMIM:615159
HP:0012758	Neurodevelopmental delay	54828	BCAS3	OMIM:619641
HP:0012758	Neurodevelopmental delay	3800	KIF5C	OMIM:615282
HP:0012758	Neurodevelopmental delay	122961	ISCA2	OMIM:616370
HP:0012758	Neurodevelopmental delay	57192	MCOLN1	ORPHA:578
HP:0012758	Neurodevelopmental delay	57192	MCOLN1	OMIM:252650
HP:0012758	Neurodevelopmental delay	10667	FARS2	ORPHA:466722
HP:0012758	Neurodevelopmental delay	23556	PIGN	OMIM:614080
HP:0012758	Neurodevelopmental delay	284098	PIGW	OMIM:616025
HP:0012758	Neurodevelopmental delay	388662	SLC6A17	OMIM:616269
HP:0012758	Neurodevelopmental delay	51227	PIGP	OMIM:617599
HP:0012758	Neurodevelopmental delay	58497	PRUNE1	OMIM:617481
HP:0012758	Neurodevelopmental delay	58497	PRUNE1	ORPHA:544469
HP:0012758	Neurodevelopmental delay	26173	INTS1	OMIM:618571
HP:0012758	Neurodevelopmental delay	55656	INTS8	OMIM:618572
HP:0012758	Neurodevelopmental delay	3658	IREB2	OMIM:618451
HP:0012758	Neurodevelopmental delay	51693	TRAPPC2L	OMIM:618331
HP:0012758	Neurodevelopmental delay	5277	PIGA	OMIM:301072
HP:0012758	Neurodevelopmental delay	5277	PIGA	OMIM:300868
HP:0012758	Neurodevelopmental delay	11160	ERLIN2	ORPHA:280384
HP:0012758	Neurodevelopmental delay	11160	ERLIN2	ORPHA:209951
HP:0012758	Neurodevelopmental delay	11160	ERLIN2	OMIM:611225
HP:0012758	Neurodevelopmental delay	8925	HERC1	OMIM:617011
HP:0012758	Neurodevelopmental delay	8925	HERC1	ORPHA:457359
HP:0012758	Neurodevelopmental delay	54892	NCAPG2	OMIM:618460
HP:0012758	Neurodevelopmental delay	23516	SLC39A14	OMIM:617013
HP:0012758	Neurodevelopmental delay	92335	STRADA	ORPHA:500533
HP:0012758	Neurodevelopmental delay	92335	STRADA	OMIM:611087
HP:0012758	Neurodevelopmental delay	8818	DPM2	ORPHA:329178
HP:0012758	Neurodevelopmental delay	9526	MPDU1	OMIM:609180
HP:0012758	Neurodevelopmental delay	11277	TREX1	OMIM:225750
HP:0012758	Neurodevelopmental delay	6647	SOD1	OMIM:618598
HP:0012758	Neurodevelopmental delay	4081	MAB21L1	OMIM:618479
HP:0012758	Neurodevelopmental delay	154881	KCTD7	OMIM:611726
HP:0012758	Neurodevelopmental delay	8869	ST3GAL5	OMIM:609056
HP:0012758	Neurodevelopmental delay	4948	OCA2	ORPHA:98794
HP:0012758	Neurodevelopmental delay	56915	EXOSC5	OMIM:619576
HP:0012758	Neurodevelopmental delay	23221	RHOBTB2	OMIM:618004
HP:0012758	Neurodevelopmental delay	112939	NACC1	OMIM:617393
HP:0012758	Neurodevelopmental delay	55572	FOXRED1	OMIM:618241
HP:0012758	Neurodevelopmental delay	7965	AIMP2	OMIM:618006
HP:0012758	Neurodevelopmental delay	29920	PYCR2	ORPHA:481152
HP:0012758	Neurodevelopmental delay	29920	PYCR2	OMIM:616420
HP:0012758	Neurodevelopmental delay	6821	SUOX	OMIM:272300
HP:0012758	Neurodevelopmental delay	7703	PCGF2	OMIM:618371
HP:0012758	Neurodevelopmental delay	23258	DENND5A	OMIM:617281
HP:0012758	Neurodevelopmental delay	389856	USP27X	OMIM:300984
HP:0012758	Neurodevelopmental delay	1822	ATN1	OMIM:618494
HP:0012758	Neurodevelopmental delay	3188	HNRNPH2	OMIM:300986
HP:0012758	Neurodevelopmental delay	5281	PIGF	OMIM:619356
HP:0012758	Neurodevelopmental delay	57003	CCDC47	OMIM:618268
HP:0012758	Neurodevelopmental delay	94005	PIGS	OMIM:618143
HP:0012758	Neurodevelopmental delay	10682	EBP	OMIM:300960
HP:0012758	Neurodevelopmental delay	22983	MAST1	OMIM:618273
HP:0012758	Neurodevelopmental delay	79143	MBOAT7	OMIM:617188
HP:0012758	Neurodevelopmental delay	57038	RARS2	OMIM:611523
HP:0012758	Neurodevelopmental delay	498	ATP5F1A	OMIM:620358
HP:0012758	Neurodevelopmental delay	8911	CACNA1I	OMIM:620114
HP:0012758	Neurodevelopmental delay	10479	SLC9A6	ORPHA:85278
HP:0012758	Neurodevelopmental delay	10479	SLC9A6	OMIM:300243
HP:0012758	Neurodevelopmental delay	777	CACNA1E	OMIM:618285
HP:0012758	Neurodevelopmental delay	55005	RMND1	OMIM:614922
HP:0012758	Neurodevelopmental delay	84081	NSRP1	OMIM:620001
HP:0012758	Neurodevelopmental delay	124454	EARS2	OMIM:614924
HP:0012758	Neurodevelopmental delay	1795	DOCK3	OMIM:618292
HP:0012758	Neurodevelopmental delay	60684	TRAPPC11	ORPHA:369840
HP:0012758	Neurodevelopmental delay	87178	PNPT1	OMIM:614932
HP:0012758	Neurodevelopmental delay	87178	PNPT1	ORPHA:319514
HP:0012758	Neurodevelopmental delay	1183	CLCN4	OMIM:300114
HP:0012758	Neurodevelopmental delay	347734	SLC35B2	OMIM:620269
HP:0012758	Neurodevelopmental delay	55325	UFSP2	OMIM:620028
HP:0012758	Neurodevelopmental delay	1119	CHKA	OMIM:620023
HP:0012758	Neurodevelopmental delay	6531	SLC6A3	ORPHA:238455
HP:0012758	Neurodevelopmental delay	51506	UFC1	OMIM:618076
HP:0012758	Neurodevelopmental delay	271	AMPD2	OMIM:615809
HP:0012758	Neurodevelopmental delay	56992	KIF15	ORPHA:261323
HP:0012758	Neurodevelopmental delay	64207	IRF2BPL	OMIM:618088
HP:0012758	Neurodevelopmental delay	5119	CHMP1A	OMIM:614961
HP:0012758	Neurodevelopmental delay	114034	TOE1	OMIM:614969
HP:0012758	Neurodevelopmental delay	894	CCND2	OMIM:615938
HP:0012758	Neurodevelopmental delay	6597	SMARCA4	OMIM:614609
HP:0012758	Neurodevelopmental delay	6597	SMARCA4	ORPHA:1465
HP:0012758	Neurodevelopmental delay	23116	TOGARAM1	OMIM:619185
HP:0012758	Neurodevelopmental delay	79583	TMEM231	OMIM:614970
HP:0012758	Neurodevelopmental delay	10352	WARS2	ORPHA:572798
HP:0012758	Neurodevelopmental delay	10352	WARS2	OMIM:617710
HP:0012758	Neurodevelopmental delay	26005	C2CD3	OMIM:615948
HP:0012758	Neurodevelopmental delay	84947	SERAC1	OMIM:614739
HP:0012758	Neurodevelopmental delay	7025	NR2F1	ORPHA:401777
HP:0012758	Neurodevelopmental delay	9255	AIMP1	OMIM:260600
HP:0012758	Neurodevelopmental delay	93210	PGAP3	OMIM:615716
HP:0012758	Neurodevelopmental delay	83475	DOHH	OMIM:620066
HP:0012758	Neurodevelopmental delay	51611	DPH5	OMIM:620070
HP:0012758	Neurodevelopmental delay	5700	PSMC1	OMIM:620071
HP:0012758	Neurodevelopmental delay	440138	ALG11	OMIM:613661
HP:0012758	Neurodevelopmental delay	64135	IFIH1	OMIM:615846
HP:0012758	Neurodevelopmental delay	6605	SMARCE1	OMIM:616938
HP:0012758	Neurodevelopmental delay	6605	SMARCE1	ORPHA:1465
HP:0012758	Neurodevelopmental delay	55691	FRMD4A	OMIM:616819
HP:0012758	Neurodevelopmental delay	55691	FRMD4A	ORPHA:466688
HP:0012758	Neurodevelopmental delay	3187	HNRNPH1	OMIM:620083
HP:0012758	Neurodevelopmental delay	7355	SLC35A2	OMIM:300896
HP:0012758	Neurodevelopmental delay	50628	GEMIN4	OMIM:617913
HP:0012758	Neurodevelopmental delay	85440	DOCK7	OMIM:615859
HP:0012758	Neurodevelopmental delay	9894	TELO2	OMIM:616954
HP:0012758	Neurodevelopmental delay	9894	TELO2	ORPHA:488642
HP:0012758	Neurodevelopmental delay	9230	RAB11B	OMIM:617807
HP:0012758	Neurodevelopmental delay	51807	TUBA8	ORPHA:250972
HP:0012758	Neurodevelopmental delay	79587	CARS2	ORPHA:477774
HP:0012758	Neurodevelopmental delay	84162	BLTP1	OMIM:617822
HP:0012758	Neurodevelopmental delay	7280	TUBB2A	OMIM:615763
HP:0012758	Neurodevelopmental delay	998	CDC42	OMIM:616737
HP:0012758	Neurodevelopmental delay	998	CDC42	ORPHA:487796
HP:0012758	Neurodevelopmental delay	23732	FRRS1L	OMIM:616981
HP:0012758	Neurodevelopmental delay	9512	PMPCB	OMIM:617954
HP:0012758	Neurodevelopmental delay	6598	SMARCB1	ORPHA:1465
HP:0012758	Neurodevelopmental delay	6664	SOX11	ORPHA:1465
HP:0012758	Neurodevelopmental delay	51185	CRBN	OMIM:607417
HP:0012758	Neurodevelopmental delay	84342	COG8	OMIM:611182
HP:0012758	Neurodevelopmental delay	55969	RAB5IF	OMIM:616994
HP:0012758	Neurodevelopmental delay	51501	HIKESHI	OMIM:616881
HP:0012758	Neurodevelopmental delay	55180	LINS1	OMIM:614340
HP:0012758	Neurodevelopmental delay	3747	KCNC2	OMIM:619913
HP:0012758	Neurodevelopmental delay	22931	RAB18	OMIM:614222
HP:0012758	Neurodevelopmental delay	56270	WDR45B	OMIM:617977
HP:0012758	Neurodevelopmental delay	6182	MRPL12	OMIM:618951
HP:0012758	Neurodevelopmental delay	200894	ARL13B	OMIM:612291
HP:0012758	Neurodevelopmental delay	9918	NCAPD2	OMIM:617983
HP:0012758	Neurodevelopmental delay	2893	GRIA4	OMIM:617864
HP:0012758	Neurodevelopmental delay	79867	TCTN2	OMIM:616654
HP:0012758	Neurodevelopmental delay	55704	CCDC88A	OMIM:617507
HP:0012758	Neurodevelopmental delay	55164	SHQ1	OMIM:619922
HP:0012758	Neurodevelopmental delay	3756	KCNH1	ORPHA:420561
HP:0012758	Neurodevelopmental delay	51	ACOX1	OMIM:618960
HP:0012758	Neurodevelopmental delay	9197	SLC33A1	OMIM:614482
HP:0012758	Neurodevelopmental delay	57731	SPTBN4	OMIM:617519
HP:0012758	Neurodevelopmental delay	57194	ATP10A	ORPHA:411515
HP:0012758	Neurodevelopmental delay	4625	MYH7	ORPHA:324604
HP:0012758	Neurodevelopmental delay	23769	FLRT1	ORPHA:320406
HP:0012758	Neurodevelopmental delay	4618	MYF6	ORPHA:169189
HP:0012758	Neurodevelopmental delay	22854	NTNG1	ORPHA:3095
HP:0012758	Neurodevelopmental delay	29940	DSE	ORPHA:2953
HP:0012758	Neurodevelopmental delay	29940	DSE	OMIM:615539
HP:0012758	Neurodevelopmental delay	4556	MT-TE	ORPHA:254864
HP:0012758	Neurodevelopmental delay	55687	TRMU	ORPHA:254864
HP:0012758	Neurodevelopmental delay	649	BMP1	OMIM:614856
HP:0012758	Neurodevelopmental delay	3035	HARS1	OMIM:614504
HP:0012758	Neurodevelopmental delay	2248	FGF3	OMIM:610706
HP:0012758	Neurodevelopmental delay	8720	MBTPS1	OMIM:618392
HP:0012758	Neurodevelopmental delay	3198	HOXA1	OMIM:601536
HP:0012758	Neurodevelopmental delay	4038	LRP4	ORPHA:98913
HP:0012758	Neurodevelopmental delay	4038	LRP4	OMIM:212780
HP:0012758	Neurodevelopmental delay	4593	MUSK	ORPHA:98913
HP:0012758	Neurodevelopmental delay	5913	RAPSN	ORPHA:98913
HP:0012758	Neurodevelopmental delay	221264	AK9	ORPHA:98913
HP:0012758	Neurodevelopmental delay	285489	DOK7	ORPHA:98913
HP:0012758	Neurodevelopmental delay	131118	DNAJC19	ORPHA:66634
HP:0012758	Neurodevelopmental delay	5557	PRIM1	OMIM:620005
HP:0012758	Neurodevelopmental delay	9927	MFN2	OMIM:617087
HP:0012758	Neurodevelopmental delay	7043	TGFB3	OMIM:615582
HP:0012758	Neurodevelopmental delay	3516	RBPJ	OMIM:614814
HP:0012758	Neurodevelopmental delay	8565	YARS1	OMIM:619418
HP:0012758	Neurodevelopmental delay	9439	MED23	OMIM:614249
HP:0012758	Neurodevelopmental delay	10020	GNE	ORPHA:3166
HP:0012758	Neurodevelopmental delay	22827	PUF60	ORPHA:508488
HP:0012758	Neurodevelopmental delay	6472	SHMT2	OMIM:619121
HP:0012758	Neurodevelopmental delay	55186	SLC25A36	OMIM:620211
HP:0012758	Neurodevelopmental delay	1802	DPH2	OMIM:620062
HP:0012758	Neurodevelopmental delay	11113	CIT	OMIM:617090
HP:0012758	Neurodevelopmental delay	50801	KCNK4	OMIM:618381
HP:0012758	Neurodevelopmental delay	253738	EBF3	OMIM:617330
HP:0012758	Neurodevelopmental delay	1186	CLCN7	OMIM:618541
HP:0012758	Neurodevelopmental delay	8812	CCNK	OMIM:618147
HP:0012758	Neurodevelopmental delay	1182	CLCN3	OMIM:619512
HP:0012758	Neurodevelopmental delay	1182	CLCN3	OMIM:619517
HP:0012758	Neurodevelopmental delay	7862	BRPF1	OMIM:617333
HP:0012758	Neurodevelopmental delay	160418	TMTC3	OMIM:617255
HP:0012758	Neurodevelopmental delay	6711	SPTBN1	OMIM:619475
HP:0012758	Neurodevelopmental delay	26053	AUTS2	OMIM:615834
HP:0012758	Neurodevelopmental delay	4774	NFIA	OMIM:613735
HP:0012758	Neurodevelopmental delay	3708	ITPR1	ORPHA:208513
HP:0012758	Neurodevelopmental delay	5447	POR	ORPHA:95699
HP:0012758	Neurodevelopmental delay	1303	COL12A1	ORPHA:536516
HP:0012758	Neurodevelopmental delay	9871	SEC24D	OMIM:616294
HP:0012758	Neurodevelopmental delay	122553	TRAPPC6B	OMIM:617862
HP:0012758	Neurodevelopmental delay	116461	TSEN15	OMIM:617026
HP:0012758	Neurodevelopmental delay	10978	CLP1	ORPHA:411493
HP:0012758	Neurodevelopmental delay	2232	FDXR	ORPHA:543470
HP:0012758	Neurodevelopmental delay	23112	TNRC6B	OMIM:619243
HP:0012758	Neurodevelopmental delay	23030	KDM4B	OMIM:619320
HP:0012758	Neurodevelopmental delay	4849	CNOT3	OMIM:618672
HP:0012758	Neurodevelopmental delay	2890	GRIA1	OMIM:619927
HP:0012758	Neurodevelopmental delay	2890	GRIA1	OMIM:619931
HP:0012758	Neurodevelopmental delay	200424	TET3	OMIM:618798
HP:0012758	Neurodevelopmental delay	10297	APC2	OMIM:618677
HP:0012758	Neurodevelopmental delay	79971	WLS	OMIM:619648
HP:0012758	Neurodevelopmental delay	9562	MINPP1	OMIM:619527
HP:0012758	Neurodevelopmental delay	57231	SNX14	ORPHA:397709
HP:0012758	Neurodevelopmental delay	57231	SNX14	OMIM:616354
HP:0012758	Neurodevelopmental delay	8913	CACNA1G	OMIM:618087
HP:0012758	Neurodevelopmental delay	119559	SFXN4	OMIM:615578
HP:0012758	Neurodevelopmental delay	10381	TUBB3	ORPHA:300570
HP:0012758	Neurodevelopmental delay	23325	WASHC4	OMIM:615817
HP:0012758	Neurodevelopmental delay	1009	CDH11	OMIM:211380
HP:0012758	Neurodevelopmental delay	1000	CDH2	OMIM:618929
HP:0012758	Neurodevelopmental delay	80856	LNPK	OMIM:618090
HP:0012758	Neurodevelopmental delay	9896	FIG4	ORPHA:208441
HP:0012758	Neurodevelopmental delay	8295	TRRAP	OMIM:618454
HP:0012758	Neurodevelopmental delay	51362	CDC40	OMIM:619302
HP:0012758	Neurodevelopmental delay	1496	CTNNA2	OMIM:618174
HP:0012758	Neurodevelopmental delay	833	CARS1	OMIM:618891
HP:0012758	Neurodevelopmental delay	3340	NDST1	OMIM:616116
HP:0012758	Neurodevelopmental delay	96459	FNIP1	OMIM:619705
HP:0012758	Neurodevelopmental delay	84148	KAT8	OMIM:618974
HP:0012758	Neurodevelopmental delay	25942	SIN3A	OMIM:613406
HP:0012758	Neurodevelopmental delay	5297	PI4KA	OMIM:619708
HP:0012758	Neurodevelopmental delay	7314	UBB	ORPHA:99772
HP:0012758	Neurodevelopmental delay	57822	GRHL3	ORPHA:99772
HP:0012758	Neurodevelopmental delay	93986	FOXP2	ORPHA:209908
HP:0012758	Neurodevelopmental delay	7840	ALMS1	ORPHA:64
HP:0012758	Neurodevelopmental delay	201163	FLCN	OMIM:610883
HP:0012758	Neurodevelopmental delay	5058	PAK1	OMIM:618158
HP:0012758	Neurodevelopmental delay	27161	AGO2	OMIM:619149
HP:0012758	Neurodevelopmental delay	10079	ATP9A	OMIM:620242
HP:0012758	Neurodevelopmental delay	26047	CNTNAP2	ORPHA:163681
HP:0012758	Neurodevelopmental delay	10841	FTCD	ORPHA:51208
HP:0012758	Neurodevelopmental delay	6909	TBX2	OMIM:618223
HP:0012758	Neurodevelopmental delay	4952	OCRL	OMIM:300555
HP:0012758	Neurodevelopmental delay	2138	EYA1	OMIM:113650
HP:0012758	Neurodevelopmental delay	6495	SIX1	OMIM:113650
HP:0012758	Neurodevelopmental delay	6938	TCF12	OMIM:615314
HP:0012758	Neurodevelopmental delay	55526	DHTKD1	OMIM:204750
HP:0012758	Neurodevelopmental delay	5332	PLCB4	OMIM:614669
HP:0012758	Neurodevelopmental delay	10992	SF3B2	OMIM:164210
HP:0012758	Neurodevelopmental delay	8659	ALDH4A1	ORPHA:79101
HP:0012758	Neurodevelopmental delay	4173	MCM4	OMIM:609981
HP:0012758	Neurodevelopmental delay	9227	LRAT	ORPHA:364055
HP:0012758	Neurodevelopmental delay	55812	SPATA7	ORPHA:364055
HP:0012758	Neurodevelopmental delay	6121	RPE65	ORPHA:364055
HP:0012758	Neurodevelopmental delay	167691	LCA5	ORPHA:364055
HP:0012758	Neurodevelopmental delay	80232	WDR26	ORPHA:513456
HP:0012758	Neurodevelopmental delay	213	ALB	ORPHA:86816
HP:0012758	Neurodevelopmental delay	5932	RBBP8	OMIM:606744
HP:0012758	Neurodevelopmental delay	5932	RBBP8	ORPHA:808
HP:0012758	Neurodevelopmental delay	6658	SOX3	ORPHA:67045
HP:0012758	Neurodevelopmental delay	51163	DBR1	OMIM:619441
HP:0012758	Neurodevelopmental delay	4780	NFE2L2	OMIM:617744
HP:0012758	Neurodevelopmental delay	10157	AASS	ORPHA:2203
HP:0012758	Neurodevelopmental delay	5184	PEPD	OMIM:170100
HP:0012758	Neurodevelopmental delay	79731	NARS2	ORPHA:79134
HP:0012758	Neurodevelopmental delay	9382	COG1	OMIM:611209
HP:0012758	Neurodevelopmental delay	9382	COG1	ORPHA:263508
HP:0012758	Neurodevelopmental delay	338657	CENATAC	OMIM:620153
HP:0012758	Neurodevelopmental delay	4131	MAP1B	OMIM:618918
HP:0012758	Neurodevelopmental delay	3376	IARS1	ORPHA:541423
HP:0012758	Neurodevelopmental delay	545	ATR	ORPHA:808
HP:0012758	Neurodevelopmental delay	1062	CENPE	ORPHA:808
HP:0012758	Neurodevelopmental delay	5116	PCNT	ORPHA:808
HP:0012758	Neurodevelopmental delay	79902	NUP85	ORPHA:808
HP:0012758	Neurodevelopmental delay	84126	ATRIP	ORPHA:808
HP:0012758	Neurodevelopmental delay	55835	CENPJ	ORPHA:808
HP:0012758	Neurodevelopmental delay	10293	TRAIP	ORPHA:808
HP:0012758	Neurodevelopmental delay	22995	CEP152	ORPHA:808
HP:0012758	Neurodevelopmental delay	10733	PLK4	ORPHA:808
HP:0012758	Neurodevelopmental delay	5257	PHKB	ORPHA:79240
HP:0012758	Neurodevelopmental delay	256297	PTF1A	OMIM:615935
HP:0012758	Neurodevelopmental delay	81615	TMEM163	OMIM:620243
HP:0012758	Neurodevelopmental delay	54704	PDP1	ORPHA:79246
HP:0012758	Neurodevelopmental delay	4566	MT-TK	ORPHA:1349
HP:0012758	Neurodevelopmental delay	20	ABCA2	OMIM:618808
HP:0012758	Neurodevelopmental delay	506	ATP5F1B	OMIM:620085
HP:0012758	Neurodevelopmental delay	2697	GJA1	ORPHA:2710
HP:0012758	Neurodevelopmental delay	2697	GJA1	OMIM:257850
HP:0012758	Neurodevelopmental delay	1513	CTSK	ORPHA:763
HP:0012758	Neurodevelopmental delay	56160	NSMCE3	OMIM:617241
HP:0012758	Neurodevelopmental delay	5442	POLRMT	OMIM:619743
HP:0012758	Neurodevelopmental delay	7156	TOP3A	OMIM:618097
HP:0012758	Neurodevelopmental delay	55780	ERMARD	OMIM:615544
HP:0012758	Neurodevelopmental delay	2783	GNB2	OMIM:619503
HP:0012758	Neurodevelopmental delay	5573	PRKAR1A	OMIM:101800
HP:0012758	Neurodevelopmental delay	165918	RNF168	OMIM:611943
HP:0012758	Neurodevelopmental delay	58499	ZNF462	OMIM:618619
HP:0012758	Neurodevelopmental delay	990	CDC6	OMIM:613805
HP:0012758	Neurodevelopmental delay	27034	ACAD8	ORPHA:79159
HP:0012758	Neurodevelopmental delay	9131	AIFM1	ORPHA:238329
HP:0012758	Neurodevelopmental delay	10265	IRX5	OMIM:611174
HP:0012758	Neurodevelopmental delay	5702	PSMC3	OMIM:619354
HP:0012758	Neurodevelopmental delay	10765	KDM5B	OMIM:618109
HP:0012758	Neurodevelopmental delay	3034	HAL	ORPHA:2157
HP:0012758	Neurodevelopmental delay	5238	PGM3	ORPHA:443811
HP:0012758	Neurodevelopmental delay	7174	TPP2	ORPHA:444463
HP:0012758	Neurodevelopmental delay	128989	TANGO2	ORPHA:480864
HP:0012758	Neurodevelopmental delay	6792	CDKL5	ORPHA:505652
HP:0012758	Neurodevelopmental delay	9496	TBX4	ORPHA:261279
HP:0012758	Neurodevelopmental delay	54968	TMEM70	ORPHA:1194
HP:0012758	Neurodevelopmental delay	54790	TET2	OMIM:619126
HP:0012758	Neurodevelopmental delay	23310	NCAPD3	OMIM:617984
HP:0012758	Neurodevelopmental delay	4763	NF1	OMIM:193520
HP:0012758	Neurodevelopmental delay	6662	SOX9	OMIM:114290
HP:0012758	Neurodevelopmental delay	26227	PHGDH	ORPHA:79351
HP:0012758	Neurodevelopmental delay	5354	PLP1	ORPHA:280229
HP:0012758	Neurodevelopmental delay	3028	HSD17B10	ORPHA:391428
HP:0012758	Neurodevelopmental delay	4577	MT-TV	ORPHA:255210
HP:0012758	Neurodevelopmental delay	51112	TRAPPC12	ORPHA:500144
HP:0012758	Neurodevelopmental delay	51112	TRAPPC12	OMIM:617669
HP:0012758	Neurodevelopmental delay	6487	ST3GAL3	OMIM:615006
HP:0012758	Neurodevelopmental delay	1501	CTNND2	ORPHA:281
HP:0012758	Neurodevelopmental delay	9037	SEMA5A	ORPHA:281
HP:0012758	Neurodevelopmental delay	497661	C18orf32	OMIM:619985
HP:0012758	Neurodevelopmental delay	8550	MAPKAPK5	OMIM:619869
HP:0012758	Neurodevelopmental delay	2752	GLUL	OMIM:610015
HP:0012758	Neurodevelopmental delay	149371	EXOC8	OMIM:619076
HP:0012758	Neurodevelopmental delay	79753	SNIP1	OMIM:614501
HP:0012758	Neurodevelopmental delay	3170	FOXA2	ORPHA:95494
HP:0012758	Neurodevelopmental delay	10436	EMG1	ORPHA:1270
HP:0012758	Neurodevelopmental delay	8218	CLTCL1	ORPHA:453510
HP:0012758	Neurodevelopmental delay	10243	GPHN	OMIM:615501
HP:0012758	Neurodevelopmental delay	55770	EXOC2	OMIM:619306
HP:0012758	Neurodevelopmental delay	55610	VPS50	OMIM:619685
HP:0012758	Neurodevelopmental delay	8882	ZPR1	OMIM:619321
HP:0012758	Neurodevelopmental delay	50	ACO2	OMIM:614559
HP:0012758	Neurodevelopmental delay	79068	FTO	OMIM:612938
HP:0012758	Neurodevelopmental delay	63925	ZNF335	OMIM:615095
HP:0012758	Neurodevelopmental delay	2530	FUT8	OMIM:618005
HP:0012758	Neurodevelopmental delay	91647	ATPAF2	OMIM:604273
HP:0012758	Neurodevelopmental delay	6045	RNF2	OMIM:619460
HP:0012758	Neurodevelopmental delay	60386	SLC25A19	ORPHA:99742
HP:0012758	Neurodevelopmental delay	8943	AP3D1	OMIM:617050
HP:0012758	Neurodevelopmental delay	4576	MT-TT	ORPHA:254857
HP:0012758	Neurodevelopmental delay	5167	ENPP1	ORPHA:51608
HP:0012758	Neurodevelopmental delay	368	ABCC6	ORPHA:51608
HP:0012758	Neurodevelopmental delay	5331	PLCB3	OMIM:618961
HP:0012758	Neurodevelopmental delay	23102	TBC1D2B	ORPHA:397973
HP:0012758	Neurodevelopmental delay	221692	PHACTR1	OMIM:618298
HP:0012758	Neurodevelopmental delay	91949	COG7	OMIM:608779
HP:0012758	Neurodevelopmental delay	116115	ZNF526	OMIM:619877
HP:0012758	Neurodevelopmental delay	8364	H4C3	OMIM:619758
HP:0012758	Neurodevelopmental delay	64220	STRA6	OMIM:601186
HP:0012758	Neurodevelopmental delay	128869	PIGU	OMIM:618590
HP:0012758	Neurodevelopmental delay	2222	FDFT1	OMIM:618156
HP:0012758	Neurodevelopmental delay	60558	GUF1	OMIM:617065
HP:0012758	Neurodevelopmental delay	5859	QARS1	OMIM:615760
HP:0012758	Neurodevelopmental delay	57582	KCNT1	OMIM:614959
HP:0012758	Neurodevelopmental delay	440	ASNS	OMIM:615574
HP:0012758	Neurodevelopmental delay	9570	GOSR2	OMIM:620166
HP:0012758	Neurodevelopmental delay	25930	PTPN23	OMIM:618890
HP:0012758	Neurodevelopmental delay	667	DST	OMIM:614653
HP:0012758	Neurodevelopmental delay	9419	CRIPT	OMIM:615789
HP:0012758	Neurodevelopmental delay	10804	GJB6	ORPHA:477
HP:0012758	Neurodevelopmental delay	2706	GJB2	ORPHA:477
HP:0012758	Neurodevelopmental delay	5076	PAX2	ORPHA:97362
HP:0012758	Neurodevelopmental delay	5626	PROP1	ORPHA:226307
HP:0012758	Neurodevelopmental delay	8022	LHX3	ORPHA:226307
HP:0012758	Neurodevelopmental delay	5449	POU1F1	ORPHA:226307
HP:0012758	Neurodevelopmental delay	1593	CYP27A1	ORPHA:909
HP:0012758	Neurodevelopmental delay	131405	TRIM71	OMIM:618667
HP:0012758	Neurodevelopmental delay	84570	COL25A1	ORPHA:91411
HP:0012758	Neurodevelopmental delay	79776	ZFHX4	ORPHA:91411
HP:0012758	Neurodevelopmental delay	84548	TMEM185A	ORPHA:100974
HP:0012758	Neurodevelopmental delay	346171	ZFP57	ORPHA:99886
HP:0012758	Neurodevelopmental delay	57061	HYMAI	ORPHA:99886
HP:0012758	Neurodevelopmental delay	5325	PLAGL1	ORPHA:99886
HP:0012758	Neurodevelopmental delay	407975	MIR17HG	ORPHA:391646
HP:0012758	Neurodevelopmental delay	3074	HEXB	ORPHA:309155
HP:0012758	Neurodevelopmental delay	405753	DUOXA2	ORPHA:95716
HP:0012758	Neurodevelopmental delay	6528	SLC5A5	ORPHA:95716
HP:0012758	Neurodevelopmental delay	7038	TG	ORPHA:95716
HP:0012758	Neurodevelopmental delay	7173	TPO	ORPHA:95716
HP:0012758	Neurodevelopmental delay	389434	IYD	ORPHA:95716
HP:0012758	Neurodevelopmental delay	50506	DUOX2	ORPHA:95716
HP:0012758	Neurodevelopmental delay	3458	IFNG	ORPHA:805
HP:0012758	Neurodevelopmental delay	7248	TSC1	ORPHA:805
HP:0012758	Neurodevelopmental delay	7249	TSC2	ORPHA:805
HP:0012758	Neurodevelopmental delay	8813	DPM1	ORPHA:79322
HP:0012758	Neurodevelopmental delay	7201	TRHR	ORPHA:99832
HP:0012758	Neurodevelopmental delay	6135	RPL11	ORPHA:124
HP:0012758	Neurodevelopmental delay	6138	RPL15	ORPHA:124
HP:0012758	Neurodevelopmental delay	6229	RPS24	ORPHA:124
HP:0012758	Neurodevelopmental delay	6125	RPL5	ORPHA:124
HP:0012758	Neurodevelopmental delay	6204	RPS10	ORPHA:124
HP:0012758	Neurodevelopmental delay	6224	RPS20	ORPHA:124
HP:0012758	Neurodevelopmental delay	2623	GATA1	ORPHA:124
HP:0012758	Neurodevelopmental delay	6232	RPS27	ORPHA:124
HP:0012758	Neurodevelopmental delay	6231	RPS26	ORPHA:124
HP:0012758	Neurodevelopmental delay	11224	RPL35	ORPHA:124
HP:0012758	Neurodevelopmental delay	6160	RPL31	ORPHA:124
HP:0012758	Neurodevelopmental delay	6218	RPS17	ORPHA:124
HP:0012758	Neurodevelopmental delay	6201	RPS7	ORPHA:124
HP:0012758	Neurodevelopmental delay	6155	RPL27	ORPHA:124
HP:0012758	Neurodevelopmental delay	6154	RPL26	ORPHA:124
HP:0012758	Neurodevelopmental delay	6210	RPS15A	ORPHA:124
HP:0012758	Neurodevelopmental delay	90121	TSR2	ORPHA:124
HP:0012758	Neurodevelopmental delay	6141	RPL18	ORPHA:124
HP:0012758	Neurodevelopmental delay	6235	RPS29	ORPHA:124
HP:0012758	Neurodevelopmental delay	3762	KCNJ5	ORPHA:37553
HP:0012758	Neurodevelopmental delay	3759	KCNJ2	ORPHA:37553
HP:0012758	Neurodevelopmental delay	6326	SCN2A	OMIM:618924
HP:0012758	Neurodevelopmental delay	339983	NAT8L	OMIM:614063
HP:0012758	Neurodevelopmental delay	340533	NEXMIF	OMIM:300912
HP:0012758	Neurodevelopmental delay	56896	DPYSL5	OMIM:619435
HP:0012758	Neurodevelopmental delay	51728	POLR3K	OMIM:619310
HP:0012758	Neurodevelopmental delay	64116	SLC39A8	OMIM:616721
HP:0012758	Neurodevelopmental delay	8573	CASK	OMIM:300749
HP:0012758	Neurodevelopmental delay	7701	ZNF142	OMIM:618425
HP:0012758	Neurodevelopmental delay	3098	HK1	OMIM:618547
HP:0012758	Neurodevelopmental delay	56623	INPP5E	OMIM:213300
HP:0012758	Neurodevelopmental delay	22859	ADGRL1	OMIM:620065
HP:0012758	Neurodevelopmental delay	8936	WASF1	OMIM:618707
HP:0012758	Neurodevelopmental delay	4983	OPHN1	OMIM:300486
HP:0012758	Neurodevelopmental delay	3020	H3-3A	OMIM:619720
HP:0012758	Neurodevelopmental delay	7358	UGDH	OMIM:618792
HP:0012758	Neurodevelopmental delay	91875	TTC5	OMIM:619244
HP:0012758	Neurodevelopmental delay	2904	GRIN2B	OMIM:616139
HP:0012758	Neurodevelopmental delay	2902	GRIN1	OMIM:617820
HP:0012758	Neurodevelopmental delay	5010	CLDN11	OMIM:619328
HP:0012758	Neurodevelopmental delay	28960	DCPS	OMIM:616459
HP:0012758	Neurodevelopmental delay	25782	RAB3GAP2	OMIM:212720
HP:0012758	Neurodevelopmental delay	55768	NGLY1	ORPHA:404454
HP:0012758	Neurodevelopmental delay	64221	ROBO3	OMIM:607313
HP:0012758	Neurodevelopmental delay	84679	SLC9A7	OMIM:301024
HP:0012758	Neurodevelopmental delay	23387	SIK3	OMIM:618162
HP:0012758	Neurodevelopmental delay	4677	NARS1	OMIM:619091
HP:0012758	Neurodevelopmental delay	4677	NARS1	OMIM:619092
HP:0012758	Neurodevelopmental delay	4204	MECP2	OMIM:300055
HP:0012758	Neurodevelopmental delay	4204	MECP2	OMIM:300260
HP:0012758	Neurodevelopmental delay	57020	VPS35L	OMIM:619135
HP:0012758	Neurodevelopmental delay	129685	TAF8	OMIM:619972
HP:0012758	Neurodevelopmental delay	2590	GALNT2	OMIM:618885
HP:0012758	Neurodevelopmental delay	6571	SLC18A2	OMIM:618049
HP:0012758	Neurodevelopmental delay	8120	AP3B2	OMIM:617276
HP:0012758	Neurodevelopmental delay	738	VPS51	OMIM:618606
HP:0012758	Neurodevelopmental delay	7994	KAT6A	OMIM:616268
HP:0012758	Neurodevelopmental delay	23499	MACF1	OMIM:618325
HP:0012758	Neurodevelopmental delay	2770	GNAI1	OMIM:619854
HP:0012758	Neurodevelopmental delay	5430	POLR2A	OMIM:618603
HP:0012758	Neurodevelopmental delay	5048	PAFAH1B1	ORPHA:95232
HP:0012758	Neurodevelopmental delay	51608	GET4	OMIM:620200
HP:0012758	Neurodevelopmental delay	54903	MKS1	OMIM:249000
HP:0012758	Neurodevelopmental delay	8665	EIF3F	OMIM:618295
HP:0012758	Neurodevelopmental delay	4761	NEUROD2	OMIM:618374
HP:0012758	Neurodevelopmental delay	5833	PCYT2	OMIM:618770
HP:0012758	Neurodevelopmental delay	1140	CHRNB1	OMIM:616313
HP:0012758	Neurodevelopmental delay	81603	TRIM8	OMIM:619428
HP:0012758	Neurodevelopmental delay	8036	SHOC2	OMIM:607721
HP:0012758	Neurodevelopmental delay	23431	AP4E1	OMIM:613744
HP:0012758	Neurodevelopmental delay	23321	TRIM2	OMIM:615490
HP:0012758	Neurodevelopmental delay	88	ACTN2	OMIM:618654
HP:0012758	Neurodevelopmental delay	1954	MEGF8	OMIM:614976
HP:0012758	Neurodevelopmental delay	1576	CYP3A4	OMIM:619073
HP:0012758	Neurodevelopmental delay	5251	PHEX	ORPHA:89936
HP:0012758	Neurodevelopmental delay	11154	AP4S1	OMIM:614067
HP:0012758	Neurodevelopmental delay	57863	CADM3	OMIM:619519
HP:0012758	Neurodevelopmental delay	1650	DDOST	OMIM:614507
HP:0012758	Neurodevelopmental delay	2521	FUS	ORPHA:300605
HP:0012758	Neurodevelopmental delay	80208	SPG11	ORPHA:300605
HP:0012758	Neurodevelopmental delay	10280	SIGMAR1	ORPHA:300605
HP:0012758	Neurodevelopmental delay	10558	SPTLC1	ORPHA:300605
HP:0012758	Neurodevelopmental delay	9533	POLR1C	OMIM:616494
HP:0012758	Neurodevelopmental delay	53335	BCL11A	OMIM:617101
HP:0012758	Neurodevelopmental delay	9474	ATG5	OMIM:617584
HP:0012758	Neurodevelopmental delay	23162	MAPK8IP3	OMIM:618443
HP:0012758	Neurodevelopmental delay	9725	TMEM63A	OMIM:618688
HP:0012758	Neurodevelopmental delay	5888	RAD51	OMIM:617244
HP:0012758	Neurodevelopmental delay	22930	RAB3GAP1	OMIM:619420
HP:0012758	Neurodevelopmental delay	79879	CCDC134	OMIM:619795
HP:0012758	Neurodevelopmental delay	5351	PLOD1	OMIM:225400
HP:0012758	Neurodevelopmental delay	5279	PIGC	OMIM:617816
HP:0012758	Neurodevelopmental delay	7707	ZNF148	OMIM:617260
HP:0012758	Neurodevelopmental delay	23114	NFASC	OMIM:618356
HP:0012758	Neurodevelopmental delay	57520	HECW2	OMIM:617268
HP:0012758	Neurodevelopmental delay	80347	COASY	OMIM:615643
HP:0012758	Neurodevelopmental delay	267010	RNU12	OMIM:620208
HP:0012758	Neurodevelopmental delay	10342	TFG	OMIM:615658
HP:0012758	Neurodevelopmental delay	54681	P4HTM	OMIM:618493
HP:0012758	Neurodevelopmental delay	3930	LBR	OMIM:618019
HP:0012758	Neurodevelopmental delay	28982	FLVCR1	OMIM:609033
HP:0012758	Neurodevelopmental delay	23233	EXOC6B	OMIM:618395
HP:0012758	Neurodevelopmental delay	28952	CCDC22	OMIM:300963
HP:0012758	Neurodevelopmental delay	1073	CFL2	OMIM:610687
HP:0012758	Neurodevelopmental delay	64802	NMNAT1	OMIM:619260
HP:0012758	Neurodevelopmental delay	4281	MID1	ORPHA:2745
HP:0012758	Neurodevelopmental delay	1460	CSNK2B	OMIM:618732
HP:0012758	Neurodevelopmental delay	22868	FASTKD2	OMIM:618855
HP:0012758	Neurodevelopmental delay	57128	LYRM4	OMIM:615595
HP:0012758	Neurodevelopmental delay	7317	UBA1	OMIM:301830
HP:0012758	Neurodevelopmental delay	1352	COX10	OMIM:619046
HP:0012758	Neurodevelopmental delay	871	SERPINH1	OMIM:613848
HP:0012758	Neurodevelopmental delay	90522	YIF1B	OMIM:619125
HP:0012758	Neurodevelopmental delay	535	ATP6V0A1	OMIM:619970
HP:0012758	Neurodevelopmental delay	8604	SLC25A12	OMIM:612949
HP:0012758	Neurodevelopmental delay	5934	RBL2	OMIM:619690
HP:0012758	Neurodevelopmental delay	3097	HIVEP2	OMIM:616977
HP:0012758	Neurodevelopmental delay	4191	MDH2	OMIM:617339
HP:0012758	Neurodevelopmental delay	6651	SON	OMIM:617140
HP:0012758	Neurodevelopmental delay	10659	CELF2	OMIM:619561
HP:0012759	Neurodevelopmental abnormality	1739	DLG1	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	652	BMP4	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	999	CDH1	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	5156	PDGFRA	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	9411	ARHGAP29	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	1748	DLX4	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	55904	KMT2E	OMIM:618512
HP:0012759	Neurodevelopmental abnormality	8029	CUBN	ORPHA:35858
HP:0012759	Neurodevelopmental abnormality	81693	AMN	ORPHA:35858
HP:0012759	Neurodevelopmental abnormality	4091	SMAD6	OMIM:617439
HP:0012759	Neurodevelopmental abnormality	5981	RFC1	ORPHA:504476
HP:0012759	Neurodevelopmental abnormality	55739	NAXD	OMIM:618321
HP:0012759	Neurodevelopmental abnormality	10533	ATG7	OMIM:619422
HP:0012759	Neurodevelopmental abnormality	120	ADD3	OMIM:617008
HP:0012759	Neurodevelopmental abnormality	6443	SGCB	ORPHA:119
HP:0012759	Neurodevelopmental abnormality	695	BTK	OMIM:300755
HP:0012759	Neurodevelopmental abnormality	5575	PRKAR1B	OMIM:619680
HP:0012759	Neurodevelopmental abnormality	5515	PPP2CA	OMIM:618354
HP:0012759	Neurodevelopmental abnormality	6096	RORB	OMIM:618357
HP:0012759	Neurodevelopmental abnormality	112755	STX1B	OMIM:616172
HP:0012759	Neurodevelopmental abnormality	84340	GFM2	ORPHA:565624
HP:0012759	Neurodevelopmental abnormality	84340	GFM2	OMIM:618397
HP:0012759	Neurodevelopmental abnormality	10588	MTHFS	OMIM:618367
HP:0012759	Neurodevelopmental abnormality	513	ATP5F1D	OMIM:618120
HP:0012759	Neurodevelopmental abnormality	2019	EN1	OMIM:619218
HP:0012759	Neurodevelopmental abnormality	63931	MRPS14	OMIM:618378
HP:0012759	Neurodevelopmental abnormality	55697	VAC14	OMIM:617054
HP:0012759	Neurodevelopmental abnormality	4361	MRE11	ORPHA:251347
HP:0012759	Neurodevelopmental abnormality	4361	MRE11	OMIM:604391
HP:0012759	Neurodevelopmental abnormality	2801	GOLGA2	OMIM:620240
HP:0012759	Neurodevelopmental abnormality	26960	NBEA	OMIM:619157
HP:0012759	Neurodevelopmental abnormality	340990	OTOG	OMIM:614945
HP:0012759	Neurodevelopmental abnormality	3199	HOXA2	ORPHA:83463
HP:0012759	Neurodevelopmental abnormality	4001	LMNB1	OMIM:619179
HP:0012759	Neurodevelopmental abnormality	93627	TBCK	OMIM:616900
HP:0012759	Neurodevelopmental abnormality	93627	TBCK	ORPHA:488632
HP:0012759	Neurodevelopmental abnormality	3211	HOXB1	OMIM:614744
HP:0012759	Neurodevelopmental abnormality	34	ACADM	ORPHA:42
HP:0012759	Neurodevelopmental abnormality	89891	DYNC2I2	OMIM:615633
HP:0012759	Neurodevelopmental abnormality	132	ADK	OMIM:614300
HP:0012759	Neurodevelopmental abnormality	90161	HS6ST2	OMIM:301025
HP:0012759	Neurodevelopmental abnormality	6678	SPARC	OMIM:616507
HP:0012759	Neurodevelopmental abnormality	79853	TM4SF20	OMIM:615432
HP:0012759	Neurodevelopmental abnormality	9699	RIMS2	OMIM:618970
HP:0012759	Neurodevelopmental abnormality	23446	SLC44A1	OMIM:618868
HP:0012759	Neurodevelopmental abnormality	472	ATM	OMIM:208900
HP:0012759	Neurodevelopmental abnormality	27102	EIF2AK1	OMIM:618878
HP:0012759	Neurodevelopmental abnormality	137492	VPS37A	ORPHA:319199
HP:0012759	Neurodevelopmental abnormality	137492	VPS37A	OMIM:614898
HP:0012759	Neurodevelopmental abnormality	23184	MESD	OMIM:618644
HP:0012759	Neurodevelopmental abnormality	8560	DEGS1	OMIM:618404
HP:0012759	Neurodevelopmental abnormality	2744	GLS	OMIM:618412
HP:0012759	Neurodevelopmental abnormality	83636	C19orf12	OMIM:614298
HP:0012759	Neurodevelopmental abnormality	54914	FOCAD	OMIM:619991
HP:0012759	Neurodevelopmental abnormality	256471	MFSD8	OMIM:610951
HP:0012759	Neurodevelopmental abnormality	10463	SLC30A9	OMIM:617595
HP:0012759	Neurodevelopmental abnormality	25981	DNAH1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	115948	ODAD3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54768	HYDIN	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	352909	DNAAF3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	27148	STK36	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	51314	NME8	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	92749	DRC1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54970	TTC12	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	152110	NEK10	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	2302	FOXJ1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	221421	RSPH9	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	85478	CCDC65	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55036	CCDC40	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	51364	ZMYND10	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	64446	DNAI2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	6674	SPAG1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83544	DNAL1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	89765	RSPH1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83538	ODAD4	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	200373	CFAP221	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	374407	DNAJB13	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55172	DNAAF2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	2622	GAS8	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	23639	DNAAF11	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	27019	DNAI1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	345895	RSPH4A	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54919	DNAAF5	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	388389	CCDC103	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	93233	ODAD1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55130	ODAD2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	1767	DNAH5	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83861	RSPH3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	345643	MCIDAS	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	56683	CFAP298	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	79925	SPEF2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	10309	CCNO	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	115399	LRRC56	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	139212	DNAAF6	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	123872	DNAAF1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	85016	CFAP300	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	339829	CCDC39	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	8701	DNAH11	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	1770	DNAH9	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	246176	GAS2L2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	1725	DHPS	OMIM:618480
HP:0012759	Neurodevelopmental abnormality	9969	MED13	OMIM:618009
HP:0012759	Neurodevelopmental abnormality	22808	MRAS	OMIM:618499
HP:0012759	Neurodevelopmental abnormality	8635	RNASET2	OMIM:612951
HP:0012759	Neurodevelopmental abnormality	7068	THRB	OMIM:188570
HP:0012759	Neurodevelopmental abnormality	35	ACADS	OMIM:201470
HP:0012759	Neurodevelopmental abnormality	35	ACADS	ORPHA:26792
HP:0012759	Neurodevelopmental abnormality	2077	ERF	OMIM:617180
HP:0012759	Neurodevelopmental abnormality	2077	ERF	OMIM:600775
HP:0012759	Neurodevelopmental abnormality	1200	TPP1	OMIM:204500
HP:0012759	Neurodevelopmental abnormality	64858	DCLRE1B	OMIM:620133
HP:0012759	Neurodevelopmental abnormality	10128	LRPPRC	OMIM:220111
HP:0012759	Neurodevelopmental abnormality	375	ARF1	OMIM:618185
HP:0012759	Neurodevelopmental abnormality	116228	COX20	OMIM:619054
HP:0012759	Neurodevelopmental abnormality	2615	LRRC32	OMIM:619074
HP:0012759	Neurodevelopmental abnormality	4953	ODC1	OMIM:619075
HP:0012759	Neurodevelopmental abnormality	286262	TPRN	OMIM:613307
HP:0012759	Neurodevelopmental abnormality	51244	CCDC174	OMIM:616816
HP:0012759	Neurodevelopmental abnormality	197322	ACSF3	ORPHA:289504
HP:0012759	Neurodevelopmental abnormality	9775	EIF4A3	OMIM:268305
HP:0012759	Neurodevelopmental abnormality	93183	PIGM	OMIM:610293
HP:0012759	Neurodevelopmental abnormality	867	CBL	OMIM:613563
HP:0012759	Neurodevelopmental abnormality	27152	INTU	OMIM:617926
HP:0012759	Neurodevelopmental abnormality	658	BMPR1B	OMIM:616849
HP:0012759	Neurodevelopmental abnormality	55784	MCTP2	ORPHA:1596
HP:0012759	Neurodevelopmental abnormality	10484	SEC23A	ORPHA:50814
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276238
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276244
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276241
HP:0012759	Neurodevelopmental abnormality	27010	TPK1	OMIM:614458
HP:0012759	Neurodevelopmental abnormality	2464	FRA16E	OMIM:136570
HP:0012759	Neurodevelopmental abnormality	2639	GCDH	OMIM:231670
HP:0012759	Neurodevelopmental abnormality	401474	SAMD12	OMIM:601068
HP:0012759	Neurodevelopmental abnormality	401474	SAMD12	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	875	CBS	ORPHA:394
HP:0012759	Neurodevelopmental abnormality	875	CBS	OMIM:236200
HP:0012759	Neurodevelopmental abnormality	51569	UFM1	OMIM:617899
HP:0012759	Neurodevelopmental abnormality	51099	ABHD5	OMIM:275630
HP:0012759	Neurodevelopmental abnormality	55209	SETD5	ORPHA:404440
HP:0012759	Neurodevelopmental abnormality	55209	SETD5	OMIM:615761
HP:0012759	Neurodevelopmental abnormality	2731	GLDC	OMIM:605899
HP:0012759	Neurodevelopmental abnormality	275	AMT	OMIM:605899
HP:0012759	Neurodevelopmental abnormality	5979	RET	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	5979	RET	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	2668	GDNF	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	6608	SMO	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	6608	SMO	ORPHA:1553
HP:0012759	Neurodevelopmental abnormality	1889	ECE1	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	6720	SREBF1	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	1908	EDN3	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	223117	SEMA3D	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	1910	EDNRB	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	10512	SEMA3C	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	2064	ERBB2	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	2065	ERBB3	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	4902	NRTN	ORPHA:388
HP:0012759	Neurodevelopmental abnormality	396	ARHGDIA	OMIM:615244
HP:0012759	Neurodevelopmental abnormality	2348	FOLR1	OMIM:613068
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	ORPHA:220497
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	OMIM:266900
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	153241	CEP120	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	153241	CEP120	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	OMIM:614464
HP:0012759	Neurodevelopmental abnormality	57589	RIC1	OMIM:618761
HP:0012759	Neurodevelopmental abnormality	317662	FAM149B1	OMIM:618763
HP:0012759	Neurodevelopmental abnormality	317662	FAM149B1	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	6844	VAMP2	OMIM:618760
HP:0012759	Neurodevelopmental abnormality	79029	AFG2B	OMIM:619616
HP:0012759	Neurodevelopmental abnormality	79029	AFG2B	OMIM:619615
HP:0012759	Neurodevelopmental abnormality	10111	RAD50	OMIM:613078
HP:0012759	Neurodevelopmental abnormality	7436	VLDLR	OMIM:224050
HP:0012759	Neurodevelopmental abnormality	7436	VLDLR	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	4313	MMP2	ORPHA:371428
HP:0012759	Neurodevelopmental abnormality	4323	MMP14	ORPHA:371428
HP:0012759	Neurodevelopmental abnormality	5159	PDGFRB	OMIM:616592
HP:0012759	Neurodevelopmental abnormality	8036	SHOC2	ORPHA:2701
HP:0012759	Neurodevelopmental abnormality	8036	SHOC2	OMIM:607721
HP:0012759	Neurodevelopmental abnormality	5500	PPP1CB	ORPHA:2701
HP:0012759	Neurodevelopmental abnormality	51761	ATP8A2	OMIM:615268
HP:0012759	Neurodevelopmental abnormality	51761	ATP8A2	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	55131	RBM28	ORPHA:157954
HP:0012759	Neurodevelopmental abnormality	55131	RBM28	OMIM:612079
HP:0012759	Neurodevelopmental abnormality	5476	CTSA	ORPHA:351
HP:0012759	Neurodevelopmental abnormality	5476	CTSA	OMIM:256540
HP:0012759	Neurodevelopmental abnormality	8493	PPM1D	OMIM:617450
HP:0012759	Neurodevelopmental abnormality	23512	SUZ12	OMIM:618786
HP:0012759	Neurodevelopmental abnormality	23512	SUZ12	ORPHA:3447
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	OMIM:241410
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	ORPHA:2323
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	OMIM:617207
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	ORPHA:496756
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	OMIM:615279
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	ORPHA:1340
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	OMIM:163950
HP:0012759	Neurodevelopmental abnormality	2203	FBP1	ORPHA:348
HP:0012759	Neurodevelopmental abnormality	1311	COMP	OMIM:177170
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	OMIM:602342
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	OMIM:616944
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	ORPHA:487825
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	ORPHA:199343
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	OMIM:274600
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	ORPHA:705
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	OMIM:612780
HP:0012759	Neurodevelopmental abnormality	6305	SBF1	OMIM:615284
HP:0012759	Neurodevelopmental abnormality	113179	ADAT3	OMIM:615286
HP:0012759	Neurodevelopmental abnormality	113179	ADAT3	ORPHA:363528
HP:0012759	Neurodevelopmental abnormality	1742	DLG4	OMIM:618793
HP:0012759	Neurodevelopmental abnormality	51567	TDP2	ORPHA:404493
HP:0012759	Neurodevelopmental abnormality	51567	TDP2	OMIM:616949
HP:0012759	Neurodevelopmental abnormality	57609	DIP2B	OMIM:136630
HP:0012759	Neurodevelopmental abnormality	6654	SOS1	OMIM:135300
HP:0012759	Neurodevelopmental abnormality	6654	SOS1	OMIM:610733
HP:0012759	Neurodevelopmental abnormality	8643	PTCH2	ORPHA:377
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79443
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79444
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79445
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:612463
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:612462
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:103580
HP:0012759	Neurodevelopmental abnormality	56246	MRAP	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	6770	STAR	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	4158	MC2R	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	23530	NNT	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	10587	TXNRD2	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	5649	RELN	ORPHA:101046
HP:0012759	Neurodevelopmental abnormality	5649	RELN	ORPHA:89844
HP:0012759	Neurodevelopmental abnormality	9211	LGI1	ORPHA:101046
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	OMIM:618332
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	ORPHA:353281
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	ORPHA:353277
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	OMIM:180849
HP:0012759	Neurodevelopmental abnormality	3000	GUCY2D	OMIM:204000
HP:0012759	Neurodevelopmental abnormality	3000	GUCY2D	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	435	ASL	ORPHA:23
HP:0012759	Neurodevelopmental abnormality	435	ASL	OMIM:207900
HP:0012759	Neurodevelopmental abnormality	92840	REEP6	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6094	ROM1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6017	RLBP1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7401	CLRN1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	24	ABCA4	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	130557	ZNF513	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	92211	CDHR1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	23568	ARL2BP	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6101	RP1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	3419	IDH3A	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	4751	NEK2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	346007	EYS	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	8100	IFT88	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	23020	SNRNP200	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	762	CA4	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	196	AHR	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	3614	IMPDH1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	3614	IMPDH1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	123016	TTC8	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	123016	TTC8	OMIM:615985
HP:0012759	Neurodevelopmental abnormality	123016	TTC8	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	6103	RPGR	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	1406	CRX	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	1406	CRX	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5148	PDE6G	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	26121	PRPF31	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	583	BBS2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	583	BBS2	OMIM:615981
HP:0012759	Neurodevelopmental abnormality	583	BBS2	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	4117	MAK	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	25794	FSCN2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	375298	CERKL	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	3420	IDH3B	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	57670	KIAA1549	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7275	TUB	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	24148	PRPF6	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	23418	CRB1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	23418	CRB1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	10461	MERTK	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	57709	SLC7A14	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	768206	PRCD	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7399	USH2A	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	23370	ARHGEF18	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	5949	RBP3	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6010	RHO	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6100	RP9	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	10002	NR2E3	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	84140	FAM161A	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	403	ARL3	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	403	ARL3	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	5145	PDE6A	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	10210	TOPORS	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	10210	TOPORS	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	8842	PROM1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	9128	PRPF4	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	145226	RDH12	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	145226	RDH12	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	50939	IMPG2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	49855	SCAPER	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	49855	SCAPER	OMIM:618195
HP:0012759	Neurodevelopmental abnormality	49855	SCAPER	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	2979	GUCA1B	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	1259	CNGA1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	1258	CNGB1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	60509	AGBL5	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	5961	PRPH2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	388939	PCARE	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7439	BEST1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	9785	DHX38	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7287	TULP1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	7287	TULP1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5995	RGR	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	9129	PRPF3	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	55975	KLHL7	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	55975	KLHL7	OMIM:617055
HP:0012759	Neurodevelopmental abnormality	3617	IMPG1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	94137	RP1L1	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	5158	PDE6B	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6102	RP2	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	55857	KIZ	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	64218	SEMA4A	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	4901	NRL	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	157657	CFAP418	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	157657	CFAP418	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	10594	PRPF8	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	6295	SAG	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	79947	DHDDS	ORPHA:791
HP:0012759	Neurodevelopmental abnormality	79947	DHDDS	OMIM:617836
HP:0012759	Neurodevelopmental abnormality	79947	DHDDS	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	6448	SGSH	OMIM:252900
HP:0012759	Neurodevelopmental abnormality	4598	MVK	ORPHA:29
HP:0012759	Neurodevelopmental abnormality	23516	SLC39A14	OMIM:617013
HP:0012759	Neurodevelopmental abnormality	23516	SLC39A14	ORPHA:521406
HP:0012759	Neurodevelopmental abnormality	57122	NUP107	OMIM:618348
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	OMIM:608091
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	114327	EFHC1	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	114327	EFHC1	OMIM:254770
HP:0012759	Neurodevelopmental abnormality	2563	GABRD	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	2563	GABRD	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	1181	CLCN2	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	3786	KCNQ3	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	22858	CILK1	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	785	CACNB4	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	785	CACNB4	OMIM:607682
HP:0012759	Neurodevelopmental abnormality	144165	PRICKLE1	ORPHA:308
HP:0012759	Neurodevelopmental abnormality	950	SCARB2	ORPHA:308
HP:0012759	Neurodevelopmental abnormality	7038	TG	OMIM:274700
HP:0012759	Neurodevelopmental abnormality	7038	TG	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	5095	PCCA	ORPHA:35
HP:0012759	Neurodevelopmental abnormality	5096	PCCB	ORPHA:35
HP:0012759	Neurodevelopmental abnormality	27125	AFF4	ORPHA:444077
HP:0012759	Neurodevelopmental abnormality	27125	AFF4	OMIM:616368
HP:0012759	Neurodevelopmental abnormality	5610	EIF2AK2	OMIM:619687
HP:0012759	Neurodevelopmental abnormality	23043	TNIK	OMIM:617028
HP:0012759	Neurodevelopmental abnormality	51114	ZDHHC9	ORPHA:776
HP:0012759	Neurodevelopmental abnormality	51114	ZDHHC9	OMIM:300799
HP:0012759	Neurodevelopmental abnormality	154881	KCTD7	OMIM:611726
HP:0012759	Neurodevelopmental abnormality	154881	KCTD7	ORPHA:263516
HP:0012759	Neurodevelopmental abnormality	473	RERE	ORPHA:494344
HP:0012759	Neurodevelopmental abnormality	473	RERE	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	3054	HCFC1	OMIM:309541
HP:0012759	Neurodevelopmental abnormality	2632	GBE1	ORPHA:206583
HP:0012759	Neurodevelopmental abnormality	56776	FMN2	OMIM:616193
HP:0012759	Neurodevelopmental abnormality	2741	GLRA1	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	10243	GPHN	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	84896	ATAD1	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	9152	SLC6A5	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	2707	GJB3	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	2531	KDSR	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	127534	GJB4	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	80036	TRPM3	OMIM:620224
HP:0012759	Neurodevelopmental abnormality	9829	DNAJC6	ORPHA:391411
HP:0012759	Neurodevelopmental abnormality	9829	DNAJC6	OMIM:615528
HP:0012759	Neurodevelopmental abnormality	5420	PODXL	ORPHA:391411
HP:0012759	Neurodevelopmental abnormality	1457	CSNK2A1	OMIM:617062
HP:0012759	Neurodevelopmental abnormality	5625	PRODH	OMIM:239500
HP:0012759	Neurodevelopmental abnormality	2799	GNS	OMIM:252940
HP:0012759	Neurodevelopmental abnormality	201595	STT3B	ORPHA:370924
HP:0012759	Neurodevelopmental abnormality	201595	STT3B	OMIM:615597
HP:0012759	Neurodevelopmental abnormality	6748	SSR4	ORPHA:370927
HP:0012759	Neurodevelopmental abnormality	6748	SSR4	OMIM:300934
HP:0012759	Neurodevelopmental abnormality	3643	INSR	ORPHA:769
HP:0012759	Neurodevelopmental abnormality	3643	INSR	ORPHA:508
HP:0012759	Neurodevelopmental abnormality	162	AP1B1	ORPHA:171851
HP:0012759	Neurodevelopmental abnormality	162	AP1B1	OMIM:242150
HP:0012759	Neurodevelopmental abnormality	1174	AP1S1	ORPHA:171851
HP:0012759	Neurodevelopmental abnormality	1174	AP1S1	OMIM:609313
HP:0012759	Neurodevelopmental abnormality	1373	CPS1	OMIM:237300
HP:0012759	Neurodevelopmental abnormality	4669	NAGLU	OMIM:252920
HP:0012759	Neurodevelopmental abnormality	128674	PROKR2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	128674	PROKR2	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	9915	ARNT2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	8820	HESX1	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	8820	HESX1	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	5015	OTX2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	128	ADH5	OMIM:619151
HP:0012759	Neurodevelopmental abnormality	7518	XRCC4	ORPHA:99812
HP:0012759	Neurodevelopmental abnormality	3981	LIG4	ORPHA:99812
HP:0012759	Neurodevelopmental abnormality	3981	LIG4	ORPHA:235
HP:0012759	Neurodevelopmental abnormality	55775	TDP1	ORPHA:94124
HP:0012759	Neurodevelopmental abnormality	55775	TDP1	OMIM:607250
HP:0012759	Neurodevelopmental abnormality	80144	FRAS1	OMIM:219000
HP:0012759	Neurodevelopmental abnormality	80144	FRAS1	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	613	BCR	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	1399	CRKL	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	5594	MAPK1	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	5594	MAPK1	OMIM:619087
HP:0012759	Neurodevelopmental abnormality	224	ALDH3A2	ORPHA:816
HP:0012759	Neurodevelopmental abnormality	224	ALDH3A2	OMIM:270200
HP:0012759	Neurodevelopmental abnormality	2314	FLII	ORPHA:819
HP:0012759	Neurodevelopmental abnormality	1717	DHCR7	ORPHA:818
HP:0012759	Neurodevelopmental abnormality	1717	DHCR7	OMIM:270400
HP:0012759	Neurodevelopmental abnormality	429	ASCL1	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	8929	PHOX2B	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	79631	EFL1	ORPHA:811
HP:0012759	Neurodevelopmental abnormality	2313	FLI1	ORPHA:851
HP:0012759	Neurodevelopmental abnormality	2313	FLI1	ORPHA:2308
HP:0012759	Neurodevelopmental abnormality	56992	KIF15	ORPHA:261323
HP:0012759	Neurodevelopmental abnormality	2483	FRG1	OMIM:158900
HP:0012759	Neurodevelopmental abnormality	1801	DPH1	OMIM:616901
HP:0012759	Neurodevelopmental abnormality	412	STS	ORPHA:281090
HP:0012759	Neurodevelopmental abnormality	412	STS	OMIM:308100
HP:0012759	Neurodevelopmental abnormality	3845	KRAS	ORPHA:2396
HP:0012759	Neurodevelopmental abnormality	3845	KRAS	OMIM:163200
HP:0012759	Neurodevelopmental abnormality	3845	KRAS	ORPHA:2612
HP:0012759	Neurodevelopmental abnormality	3845	KRAS	ORPHA:1340
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	ORPHA:1065
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	OMIM:194072
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	64087	MCCC2	OMIM:210210
HP:0012759	Neurodevelopmental abnormality	672	BRCA1	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	672	BRCA1	OMIM:617883
HP:0012759	Neurodevelopmental abnormality	10459	MAD2L2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	7516	XRCC2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	29089	UBE2T	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	675	BRCA2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	55120	FANCL	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2177	FANCD2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2177	FANCD2	OMIM:227646
HP:0012759	Neurodevelopmental abnormality	2175	FANCA	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2175	FANCA	OMIM:227650
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	OMIM:300514
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	ORPHA:3412
HP:0012759	Neurodevelopmental abnormality	2176	FANCC	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2176	FANCC	OMIM:227645
HP:0012759	Neurodevelopmental abnormality	2178	FANCE	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2178	FANCE	OMIM:600901
HP:0012759	Neurodevelopmental abnormality	2189	FANCG	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	5889	RAD51C	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	55159	RFWD3	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	83990	BRIP1	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	57697	FANCM	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	79728	PALB2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	84464	SLX4	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	55215	FANCI	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	10555	AGPAT2	OMIM:608594
HP:0012759	Neurodevelopmental abnormality	10555	AGPAT2	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	222663	SCUBE3	OMIM:619184
HP:0012759	Neurodevelopmental abnormality	9184	BUB3	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	699	BUB1	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	699	BUB1	OMIM:620183
HP:0012759	Neurodevelopmental abnormality	9319	TRIP13	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	OMIM:616346
HP:0012759	Neurodevelopmental abnormality	5602	MAPK10	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	23316	CUX2	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	23316	CUX2	OMIM:618141
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	OMIM:615369
HP:0012759	Neurodevelopmental abnormality	23036	ZNF292	OMIM:619188
HP:0012759	Neurodevelopmental abnormality	55148	UBR7	OMIM:619189
HP:0012759	Neurodevelopmental abnormality	84342	COG8	ORPHA:95428
HP:0012759	Neurodevelopmental abnormality	84342	COG8	OMIM:611182
HP:0012759	Neurodevelopmental abnormality	56922	MCCC1	OMIM:210200
HP:0012759	Neurodevelopmental abnormality	83879	CDCA7	OMIM:616910
HP:0012759	Neurodevelopmental abnormality	83879	CDCA7	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	175	AGA	ORPHA:93
HP:0012759	Neurodevelopmental abnormality	175	AGA	OMIM:208400
HP:0012759	Neurodevelopmental abnormality	84947	SERAC1	OMIM:614739
HP:0012759	Neurodevelopmental abnormality	3769	KCNJ13	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	343035	RD3	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	64802	NMNAT1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	57096	RPGRIP1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	OMIM:615991
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	OMIM:610188
HP:0012759	Neurodevelopmental abnormality	10383	TUBB4B	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	85015	USP45	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5130	PCYT1A	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5130	PCYT1A	ORPHA:85167
HP:0012759	Neurodevelopmental abnormality	9657	IQCB1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	392255	GDF6	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	23746	AIPL1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	7025	NR2F1	ORPHA:401777
HP:0012759	Neurodevelopmental abnormality	7025	NR2F1	OMIM:615722
HP:0012759	Neurodevelopmental abnormality	64327	LMBR1	ORPHA:2378
HP:0012759	Neurodevelopmental abnormality	5190	PEX6	ORPHA:3220
HP:0012759	Neurodevelopmental abnormality	5190	PEX6	OMIM:614863
HP:0012759	Neurodevelopmental abnormality	89884	LHX4	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	6091	ROBO1	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	23432	GPR161	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	79759	ZNF668	OMIM:620194
HP:0012759	Neurodevelopmental abnormality	283209	PGM2L1	OMIM:620191
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	OMIM:104290
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:569
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:2131
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	OMIM:602481
HP:0012759	Neurodevelopmental abnormality	6473	SHOX	OMIM:249700
HP:0012759	Neurodevelopmental abnormality	54112	GPR88	OMIM:616939
HP:0012759	Neurodevelopmental abnormality	158	ADSL	ORPHA:46
HP:0012759	Neurodevelopmental abnormality	158	ADSL	OMIM:103050
HP:0012759	Neurodevelopmental abnormality	9101	USP8	ORPHA:401795
HP:0012759	Neurodevelopmental abnormality	1013	CDH15	OMIM:612580
HP:0012759	Neurodevelopmental abnormality	6949	TCOF1	OMIM:154500
HP:0012759	Neurodevelopmental abnormality	5664	PSEN2	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	10452	TOMM40	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	351	APP	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	351	APP	ORPHA:324703
HP:0012759	Neurodevelopmental abnormality	10347	ABCA7	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	6653	SORL1	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	200403	VWA3B	OMIM:616948
HP:0012759	Neurodevelopmental abnormality	147372	CCBE1	OMIM:235510
HP:0012759	Neurodevelopmental abnormality	147372	CCBE1	ORPHA:2136
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	ORPHA:800
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	OMIM:255800
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	ORPHA:3205
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	ORPHA:624
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	OMIM:185300
HP:0012759	Neurodevelopmental abnormality	9230	RAB11B	OMIM:617807
HP:0012759	Neurodevelopmental abnormality	79848	CSPP1	OMIM:615636
HP:0012759	Neurodevelopmental abnormality	79848	CSPP1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	8092	ALX1	OMIM:613456
HP:0012759	Neurodevelopmental abnormality	8092	ALX1	ORPHA:306542
HP:0012759	Neurodevelopmental abnormality	5279	PIGC	OMIM:617816
HP:0012759	Neurodevelopmental abnormality	79587	CARS2	ORPHA:477774
HP:0012759	Neurodevelopmental abnormality	84162	BLTP1	OMIM:617822
HP:0012759	Neurodevelopmental abnormality	80347	COASY	OMIM:615643
HP:0012759	Neurodevelopmental abnormality	2782	GNB1	OMIM:616973
HP:0012759	Neurodevelopmental abnormality	2782	GNB1	ORPHA:488613
HP:0012759	Neurodevelopmental abnormality	10413	YAP1	ORPHA:1473
HP:0012759	Neurodevelopmental abnormality	10413	YAP1	OMIM:120433
HP:0012759	Neurodevelopmental abnormality	7200	TRH	OMIM:275120
HP:0012759	Neurodevelopmental abnormality	2561	GABRB2	OMIM:617829
HP:0012759	Neurodevelopmental abnormality	2561	GABRB2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2821	GPI	OMIM:613470
HP:0012759	Neurodevelopmental abnormality	134701	RIPPLY2	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	10683	DLL3	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	3955	LFNG	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	84667	HES7	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	145873	MESP2	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	ORPHA:163746
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	OMIM:611584
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	OMIM:609136
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	ORPHA:2319
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	OMIM:268300
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	OMIM:216100
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	ORPHA:3103
HP:0012759	Neurodevelopmental abnormality	51524	TMEM138	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	23090	ZNF423	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	197131	UBR1	ORPHA:2315
HP:0012759	Neurodevelopmental abnormality	197131	UBR1	OMIM:243800
HP:0012759	Neurodevelopmental abnormality	7098	TLR3	OMIM:613002
HP:0012759	Neurodevelopmental abnormality	114548	NLRP3	ORPHA:1451
HP:0012759	Neurodevelopmental abnormality	64840	PORCN	OMIM:305600
HP:0012759	Neurodevelopmental abnormality	55180	LINS1	OMIM:614340
HP:0012759	Neurodevelopmental abnormality	1213	CLTC	OMIM:617854
HP:0012759	Neurodevelopmental abnormality	1213	CLTC	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23040	MYT1L	OMIM:616521
HP:0012759	Neurodevelopmental abnormality	85440	DOCK7	ORPHA:411986
HP:0012759	Neurodevelopmental abnormality	8022	LHX3	OMIM:221750
HP:0012759	Neurodevelopmental abnormality	1836	SLC26A2	OMIM:222600
HP:0012759	Neurodevelopmental abnormality	22796	COG2	ORPHA:435934
HP:0012759	Neurodevelopmental abnormality	2893	GRIA4	OMIM:617864
HP:0012759	Neurodevelopmental abnormality	23204	ARL6IP1	OMIM:615685
HP:0012759	Neurodevelopmental abnormality	271	AMPD2	OMIM:615686
HP:0012759	Neurodevelopmental abnormality	271	AMPD2	OMIM:615809
HP:0012759	Neurodevelopmental abnormality	8292	COLQ	ORPHA:98915
HP:0012759	Neurodevelopmental abnormality	9076	CLDN1	OMIM:607626
HP:0012759	Neurodevelopmental abnormality	4094	MAF	OMIM:601088
HP:0012759	Neurodevelopmental abnormality	4094	MAF	ORPHA:1272
HP:0012759	Neurodevelopmental abnormality	10577	NPC2	OMIM:607625
HP:0012759	Neurodevelopmental abnormality	54802	TRIT1	OMIM:617873
HP:0012759	Neurodevelopmental abnormality	650	BMP2	OMIM:617877
HP:0012759	Neurodevelopmental abnormality	51317	PHF21A	OMIM:618725
HP:0012759	Neurodevelopmental abnormality	51317	PHF21A	ORPHA:52022
HP:0012759	Neurodevelopmental abnormality	55733	HHAT	ORPHA:1422
HP:0012759	Neurodevelopmental abnormality	387	RHOA	OMIM:618727
HP:0012759	Neurodevelopmental abnormality	5449	POU1F1	OMIM:613038
HP:0012759	Neurodevelopmental abnormality	8086	AAAS	OMIM:231550
HP:0012759	Neurodevelopmental abnormality	9851	KIAA0753	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	5147	PDE6D	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	OMIM:277170
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	83452	RAB33B	OMIM:615222
HP:0012759	Neurodevelopmental abnormality	7545	ZIC1	OMIM:618736
HP:0012759	Neurodevelopmental abnormality	7545	ZIC1	ORPHA:35099
HP:0012759	Neurodevelopmental abnormality	109	ADCY3	OMIM:617885
HP:0012759	Neurodevelopmental abnormality	1460	CSNK2B	OMIM:618732
HP:0012759	Neurodevelopmental abnormality	8449	DHX16	OMIM:618733
HP:0012759	Neurodevelopmental abnormality	1497	CTNS	OMIM:219800
HP:0012759	Neurodevelopmental abnormality	8294	H4C9	OMIM:619951
HP:0012759	Neurodevelopmental abnormality	229	ALDOB	OMIM:229600
HP:0012759	Neurodevelopmental abnormality	6873	TAF2	OMIM:615599
HP:0012759	Neurodevelopmental abnormality	6873	TAF2	ORPHA:397951
HP:0012759	Neurodevelopmental abnormality	1947	EFNB1	ORPHA:1520
HP:0012759	Neurodevelopmental abnormality	1947	EFNB1	OMIM:304110
HP:0012759	Neurodevelopmental abnormality	23417	MLYCD	OMIM:248360
HP:0012759	Neurodevelopmental abnormality	4047	LSS	ORPHA:2850
HP:0012759	Neurodevelopmental abnormality	4047	LSS	OMIM:618840
HP:0012759	Neurodevelopmental abnormality	3694	ITGB6	ORPHA:2850
HP:0012759	Neurodevelopmental abnormality	2067	ERCC1	ORPHA:90322
HP:0012759	Neurodevelopmental abnormality	114803	MYSM1	ORPHA:508542
HP:0012759	Neurodevelopmental abnormality	6855	SYP	OMIM:300802
HP:0012759	Neurodevelopmental abnormality	51111	KMT5B	OMIM:617788
HP:0012759	Neurodevelopmental abnormality	55689	YEATS2	OMIM:615127
HP:0012759	Neurodevelopmental abnormality	55689	YEATS2	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	OMIM:616455
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	ORPHA:79499
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	ORPHA:3473
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	OMIM:124480
HP:0012759	Neurodevelopmental abnormality	50964	SOST	ORPHA:1513
HP:0012759	Neurodevelopmental abnormality	23474	ETHE1	ORPHA:51188
HP:0012759	Neurodevelopmental abnormality	23474	ETHE1	OMIM:602473
HP:0012759	Neurodevelopmental abnormality	5428	POLG	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	5428	POLG	OMIM:603041
HP:0012759	Neurodevelopmental abnormality	1890	TYMP	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	1890	TYMP	OMIM:603041
HP:0012759	Neurodevelopmental abnormality	3980	LIG3	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	50484	RRM2B	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	50484	RRM2B	OMIM:612075
HP:0012759	Neurodevelopmental abnormality	10559	SLC35A1	OMIM:603585
HP:0012759	Neurodevelopmental abnormality	535	ATP6V0A1	OMIM:619971
HP:0012759	Neurodevelopmental abnormality	535	ATP6V0A1	OMIM:619970
HP:0012759	Neurodevelopmental abnormality	2937	GSS	OMIM:231900
HP:0012759	Neurodevelopmental abnormality	2937	GSS	OMIM:266130
HP:0012759	Neurodevelopmental abnormality	10584	COLEC10	OMIM:248340
HP:0012759	Neurodevelopmental abnormality	10584	COLEC10	ORPHA:293843
HP:0012759	Neurodevelopmental abnormality	55870	ASH1L	OMIM:617796
HP:0012759	Neurodevelopmental abnormality	816	CAMK2B	OMIM:617799
HP:0012759	Neurodevelopmental abnormality	55109	AGGF1	ORPHA:90308
HP:0012759	Neurodevelopmental abnormality	64359	NXN	ORPHA:1507
HP:0012759	Neurodevelopmental abnormality	4920	ROR2	ORPHA:1507
HP:0012759	Neurodevelopmental abnormality	4920	ROR2	OMIM:268310
HP:0012759	Neurodevelopmental abnormality	5566	PRKACA	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	5567	PRKACB	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2735	GLI1	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2121	EVC	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2121	EVC	OMIM:225500
HP:0012759	Neurodevelopmental abnormality	51626	DYNC2LI1	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	132884	EVC2	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	132884	EVC2	OMIM:225500
HP:0012759	Neurodevelopmental abnormality	22884	WDR37	OMIM:618652
HP:0012759	Neurodevelopmental abnormality	1656	DDX6	OMIM:618653
HP:0012759	Neurodevelopmental abnormality	3612	IMPA1	OMIM:617323
HP:0012759	Neurodevelopmental abnormality	55714	TENM3	OMIM:615145
HP:0012759	Neurodevelopmental abnormality	9731	CEP104	OMIM:619988
HP:0012759	Neurodevelopmental abnormality	9731	CEP104	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	3737	KCNA2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	3737	KCNA2	OMIM:616366
HP:0012759	Neurodevelopmental abnormality	10991	SLC38A3	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	10991	SLC38A3	OMIM:619881
HP:0012759	Neurodevelopmental abnormality	22906	TRAK1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	7532	YWHAG	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	7532	YWHAG	OMIM:617665
HP:0012759	Neurodevelopmental abnormality	2906	GRIN2D	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	774	CACNA1B	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23334	SZT2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	OMIM:615871
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	OMIM:618482
HP:0012759	Neurodevelopmental abnormality	3745	KCNB1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	25977	NECAP1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	16	AARS1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2555	GABRA2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	55152	DALRD3	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	26999	CYFIP2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	25973	PARS2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23097	CDK19	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23097	CDK19	OMIM:618916
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	OMIM:618265
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	OMIM:617711
HP:0012759	Neurodevelopmental abnormality	55623	THUMPD1	OMIM:619989
HP:0012759	Neurodevelopmental abnormality	3782	KCNN3	OMIM:618658
HP:0012759	Neurodevelopmental abnormality	3782	KCNN3	ORPHA:3473
HP:0012759	Neurodevelopmental abnormality	3476	IGBP1	ORPHA:52055
HP:0012759	Neurodevelopmental abnormality	3476	IGBP1	OMIM:300472
HP:0012759	Neurodevelopmental abnormality	56006	SMG9	OMIM:619995
HP:0012759	Neurodevelopmental abnormality	59335	PRDM12	OMIM:616488
HP:0012759	Neurodevelopmental abnormality	286	ANK1	ORPHA:251066
HP:0012759	Neurodevelopmental abnormality	5860	QDPR	ORPHA:226
HP:0012759	Neurodevelopmental abnormality	5860	QDPR	OMIM:261630
HP:0012759	Neurodevelopmental abnormality	26137	ZBTB20	OMIM:259050
HP:0012759	Neurodevelopmental abnormality	26137	ZBTB20	ORPHA:3042
HP:0012759	Neurodevelopmental abnormality	9533	POLR1C	OMIM:616494
HP:0012759	Neurodevelopmental abnormality	153201	SLC36A2	OMIM:242600
HP:0012759	Neurodevelopmental abnormality	339855	KY	ORPHA:496689
HP:0012759	Neurodevelopmental abnormality	2678	GGT1	OMIM:231950
HP:0012759	Neurodevelopmental abnormality	3930	LBR	OMIM:169400
HP:0012759	Neurodevelopmental abnormality	1107	CHD3	OMIM:618205
HP:0012759	Neurodevelopmental abnormality	23189	KANK1	OMIM:612900
HP:0012759	Neurodevelopmental abnormality	2055	CLN8	ORPHA:1947
HP:0012759	Neurodevelopmental abnormality	2055	CLN8	OMIM:610003
HP:0012759	Neurodevelopmental abnormality	1173	AP2M1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	1173	AP2M1	OMIM:618587
HP:0012759	Neurodevelopmental abnormality	6529	SLC6A1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	6529	SLC6A1	OMIM:616421
HP:0012759	Neurodevelopmental abnormality	164	AP1G1	OMIM:619548
HP:0012759	Neurodevelopmental abnormality	164	AP1G1	OMIM:619467
HP:0012759	Neurodevelopmental abnormality	9091	PIGQ	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	79751	SLC25A22	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	150094	SIK1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2917	GRM7	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2917	GRM7	OMIM:618922
HP:0012759	Neurodevelopmental abnormality	10456	HAX1	OMIM:610738
HP:0012759	Neurodevelopmental abnormality	55217	TMLHE	OMIM:300872
HP:0012759	Neurodevelopmental abnormality	30000	TNPO2	OMIM:619556
HP:0012759	Neurodevelopmental abnormality	79705	LRRK1	OMIM:615198
HP:0012759	Neurodevelopmental abnormality	57102	C12orf4	OMIM:618221
HP:0012759	Neurodevelopmental abnormality	359	AQP2	OMIM:125800
HP:0012759	Neurodevelopmental abnormality	81570	CLPB	ORPHA:445038
HP:0012759	Neurodevelopmental abnormality	81570	CLPB	OMIM:616271
HP:0012759	Neurodevelopmental abnormality	7555	CNBP	OMIM:602668
HP:0012759	Neurodevelopmental abnormality	79048	SECISBP2	ORPHA:171706
HP:0012759	Neurodevelopmental abnormality	2710	GK	OMIM:307030
HP:0012759	Neurodevelopmental abnormality	1491	CTH	ORPHA:212
HP:0012759	Neurodevelopmental abnormality	164656	TMPRSS6	ORPHA:209981
HP:0012759	Neurodevelopmental abnormality	9820	CUL7	OMIM:273750
HP:0012759	Neurodevelopmental abnormality	23203	PMPCA	OMIM:213200
HP:0012759	Neurodevelopmental abnormality	23203	PMPCA	ORPHA:1170
HP:0012759	Neurodevelopmental abnormality	4864	NPC1	OMIM:257220
HP:0012759	Neurodevelopmental abnormality	2299	FOXI1	OMIM:274600
HP:0012759	Neurodevelopmental abnormality	2299	FOXI1	ORPHA:705
HP:0012759	Neurodevelopmental abnormality	6898	TAT	ORPHA:28378
HP:0012759	Neurodevelopmental abnormality	6898	TAT	OMIM:276600
HP:0012759	Neurodevelopmental abnormality	10483	SEC23B	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	6391	SDHC	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	205717	USF3	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	100144748	KLLN	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	80324	PUS1	OMIM:600462
HP:0012759	Neurodevelopmental abnormality	80324	PUS1	ORPHA:2598
HP:0012759	Neurodevelopmental abnormality	3172	HNF4A	ORPHA:263455
HP:0012759	Neurodevelopmental abnormality	6023	RMRP	OMIM:607095
HP:0012759	Neurodevelopmental abnormality	51715	RAB23	ORPHA:65759
HP:0012759	Neurodevelopmental abnormality	51715	RAB23	OMIM:201000
HP:0012759	Neurodevelopmental abnormality	1954	MEGF8	ORPHA:65759
HP:0012759	Neurodevelopmental abnormality	9244	CRLF1	OMIM:272430
HP:0012759	Neurodevelopmental abnormality	3975	LHX1	ORPHA:261265
HP:0012759	Neurodevelopmental abnormality	6928	HNF1B	ORPHA:261265
HP:0012759	Neurodevelopmental abnormality	6928	HNF1B	ORPHA:93111
HP:0012759	Neurodevelopmental abnormality	139411	PTCHD1	OMIM:300830
HP:0012759	Neurodevelopmental abnormality	79005	SCNM1	OMIM:620107
HP:0012759	Neurodevelopmental abnormality	6566	SLC16A1	OMIM:616095
HP:0012759	Neurodevelopmental abnormality	22983	MAST1	OMIM:618273
HP:0012759	Neurodevelopmental abnormality	23031	MAST3	OMIM:620115
HP:0012759	Neurodevelopmental abnormality	8911	CACNA1I	OMIM:620114
HP:0012759	Neurodevelopmental abnormality	9895	TECPR2	ORPHA:320385
HP:0012759	Neurodevelopmental abnormality	9895	TECPR2	OMIM:615031
HP:0012759	Neurodevelopmental abnormality	3739	KCNA4	OMIM:618284
HP:0012759	Neurodevelopmental abnormality	23259	DDHD2	ORPHA:320380
HP:0012759	Neurodevelopmental abnormality	23259	DDHD2	OMIM:615033
HP:0012759	Neurodevelopmental abnormality	221692	PHACTR1	OMIM:618298
HP:0012759	Neurodevelopmental abnormality	8517	IKBKG	OMIM:308300
HP:0012759	Neurodevelopmental abnormality	8517	IKBKG	ORPHA:464
HP:0012759	Neurodevelopmental abnormality	11005	SPINK5	ORPHA:634
HP:0012759	Neurodevelopmental abnormality	4594	MMUT	ORPHA:289916
HP:0012759	Neurodevelopmental abnormality	4594	MMUT	ORPHA:79312
HP:0012759	Neurodevelopmental abnormality	341640	FREM2	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	23426	GRIP1	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	10262	SF3B4	OMIM:154400
HP:0012759	Neurodevelopmental abnormality	23556	PIGN	ORPHA:2059
HP:0012759	Neurodevelopmental abnormality	23556	PIGN	OMIM:614080
HP:0012759	Neurodevelopmental abnormality	145173	B3GLCT	ORPHA:709
HP:0012759	Neurodevelopmental abnormality	55325	UFSP2	OMIM:620028
HP:0012759	Neurodevelopmental abnormality	118987	PDZD8	OMIM:620021
HP:0012759	Neurodevelopmental abnormality	1299	COL9A3	OMIM:620022
HP:0012759	Neurodevelopmental abnormality	501	ALDH7A1	OMIM:266100
HP:0012759	Neurodevelopmental abnormality	501	ALDH7A1	ORPHA:3006
HP:0012759	Neurodevelopmental abnormality	6335	SCN9A	OMIM:243000
HP:0012759	Neurodevelopmental abnormality	340024	SLC6A19	OMIM:234500
HP:0012759	Neurodevelopmental abnormality	340024	SLC6A19	ORPHA:2116
HP:0012759	Neurodevelopmental abnormality	84823	LMNB2	ORPHA:79087
HP:0012759	Neurodevelopmental abnormality	10015	PDCD6IP	OMIM:620047
HP:0012759	Neurodevelopmental abnormality	4212	MEIS2	OMIM:600987
HP:0012759	Neurodevelopmental abnormality	4212	MEIS2	ORPHA:261190
HP:0012759	Neurodevelopmental abnormality	5230	PGK1	ORPHA:713
HP:0012759	Neurodevelopmental abnormality	5230	PGK1	OMIM:300653
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	OMIM:218040
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	OMIM:163200
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	ORPHA:2612
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	ORPHA:3071
HP:0012759	Neurodevelopmental abnormality	7490	WT1	OMIM:194072
HP:0012759	Neurodevelopmental abnormality	7490	WT1	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	5091	PC	OMIM:266150
HP:0012759	Neurodevelopmental abnormality	4035	LRP1	OMIM:604093
HP:0012759	Neurodevelopmental abnormality	83475	DOHH	OMIM:620066
HP:0012759	Neurodevelopmental abnormality	92667	MGME1	ORPHA:352447
HP:0012759	Neurodevelopmental abnormality	92667	MGME1	OMIM:615084
HP:0012759	Neurodevelopmental abnormality	255928	SYT14	ORPHA:284271
HP:0012759	Neurodevelopmental abnormality	554	AVPR2	OMIM:304800
HP:0012759	Neurodevelopmental abnormality	51085	MLXIPL	OMIM:194050
HP:0012759	Neurodevelopmental abnormality	51085	MLXIPL	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	11152	WDR45	OMIM:300894
HP:0012759	Neurodevelopmental abnormality	11152	WDR45	ORPHA:329284
HP:0012759	Neurodevelopmental abnormality	11117	EMILIN1	OMIM:620080
HP:0012759	Neurodevelopmental abnormality	5915	RARB	ORPHA:2470
HP:0012759	Neurodevelopmental abnormality	5915	RARB	OMIM:615524
HP:0012759	Neurodevelopmental abnormality	4488	MSX2	ORPHA:60015
HP:0012759	Neurodevelopmental abnormality	4488	MSX2	OMIM:604757
HP:0012759	Neurodevelopmental abnormality	9147	NEMF	OMIM:619099
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	ORPHA:2473
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	OMIM:605231
HP:0012759	Neurodevelopmental abnormality	79791	FBXO31	OMIM:615979
HP:0012759	Neurodevelopmental abnormality	51750	RTEL1	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	65057	ACD	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	5073	PARN	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	1736	DKC1	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	1736	DKC1	OMIM:305000
HP:0012759	Neurodevelopmental abnormality	54413	NLGN3	OMIM:300425
HP:0012759	Neurodevelopmental abnormality	55212	BBS7	OMIM:615984
HP:0012759	Neurodevelopmental abnormality	55212	BBS7	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	2702	GJA5	OMIM:612474
HP:0012759	Neurodevelopmental abnormality	2703	GJA8	OMIM:612474
HP:0012759	Neurodevelopmental abnormality	585	BBS4	OMIM:615982
HP:0012759	Neurodevelopmental abnormality	585	BBS4	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	55690	PACS1	ORPHA:329224
HP:0012759	Neurodevelopmental abnormality	55690	PACS1	OMIM:615009
HP:0012759	Neurodevelopmental abnormality	10664	CTCF	OMIM:615502
HP:0012759	Neurodevelopmental abnormality	10664	CTCF	ORPHA:363611
HP:0012759	Neurodevelopmental abnormality	27241	BBS9	OMIM:615986
HP:0012759	Neurodevelopmental abnormality	27241	BBS9	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	6497	SKI	ORPHA:2462
HP:0012759	Neurodevelopmental abnormality	6497	SKI	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	6497	SKI	OMIM:182212
HP:0012759	Neurodevelopmental abnormality	3720	JARID2	OMIM:620098
HP:0012759	Neurodevelopmental abnormality	6683	SPAST	ORPHA:100985
HP:0012759	Neurodevelopmental abnormality	6683	SPAST	OMIM:182601
HP:0012759	Neurodevelopmental abnormality	5193	PEX12	OMIM:266510
HP:0012759	Neurodevelopmental abnormality	92482	BBIP1	OMIM:615995
HP:0012759	Neurodevelopmental abnormality	92482	BBIP1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	11020	IFT27	OMIM:615996
HP:0012759	Neurodevelopmental abnormality	11020	IFT27	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	29926	GMPPA	OMIM:615510
HP:0012759	Neurodevelopmental abnormality	54585	LZTFL1	OMIM:615994
HP:0012759	Neurodevelopmental abnormality	54585	LZTFL1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	411	ARSB	OMIM:253200
HP:0012759	Neurodevelopmental abnormality	57511	COG6	ORPHA:363523
HP:0012759	Neurodevelopmental abnormality	57511	COG6	OMIM:614576
HP:0012759	Neurodevelopmental abnormality	57511	COG6	OMIM:615328
HP:0012759	Neurodevelopmental abnormality	91179	SCARF2	OMIM:600920
HP:0012759	Neurodevelopmental abnormality	125988	MICOS13	ORPHA:67047
HP:0012759	Neurodevelopmental abnormality	3920	LAMP2	ORPHA:34587
HP:0012759	Neurodevelopmental abnormality	3920	LAMP2	OMIM:300257
HP:0012759	Neurodevelopmental abnormality	26224	FBXL3	OMIM:606220
HP:0012759	Neurodevelopmental abnormality	5925	RB1	ORPHA:1587
HP:0012759	Neurodevelopmental abnormality	7874	USP7	OMIM:616863
HP:0012759	Neurodevelopmental abnormality	7874	USP7	ORPHA:500055
HP:0012759	Neurodevelopmental abnormality	29940	DSE	OMIM:615539
HP:0012759	Neurodevelopmental abnormality	1105	CHD1	ORPHA:529965
HP:0012759	Neurodevelopmental abnormality	1105	CHD1	OMIM:617682
HP:0012759	Neurodevelopmental abnormality	3758	KCNJ1	OMIM:241200
HP:0012759	Neurodevelopmental abnormality	8884	SLC5A6	OMIM:619903
HP:0012759	Neurodevelopmental abnormality	55644	OSGEP	OMIM:617729
HP:0012759	Neurodevelopmental abnormality	7074	TIAM1	OMIM:619908
HP:0012759	Neurodevelopmental abnormality	8200	GDF5	OMIM:200700
HP:0012759	Neurodevelopmental abnormality	340075	ARSI	ORPHA:401815
HP:0012759	Neurodevelopmental abnormality	112858	TP53RK	OMIM:617730
HP:0012759	Neurodevelopmental abnormality	23233	EXOC6B	ORPHA:93359
HP:0012759	Neurodevelopmental abnormality	51002	TPRKB	OMIM:617731
HP:0012759	Neurodevelopmental abnormality	490	ATP2B1	OMIM:619910
HP:0012759	Neurodevelopmental abnormality	5293	PIK3CD	ORPHA:221139
HP:0012759	Neurodevelopmental abnormality	90417	KNSTRN	ORPHA:221139
HP:0012759	Neurodevelopmental abnormality	54805	CNNM2	OMIM:616418
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	OMIM:601675
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	OMIM:278730
HP:0012759	Neurodevelopmental abnormality	2073	ERCC5	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	OMIM:616390
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	OMIM:610651
HP:0012759	Neurodevelopmental abnormality	55164	SHQ1	OMIM:619921
HP:0012759	Neurodevelopmental abnormality	6591	SNAI2	ORPHA:2884
HP:0012759	Neurodevelopmental abnormality	3815	KIT	ORPHA:2884
HP:0012759	Neurodevelopmental abnormality	8241	RBM10	ORPHA:2886
HP:0012759	Neurodevelopmental abnormality	5538	PPT1	OMIM:256730
HP:0012759	Neurodevelopmental abnormality	1663	DDX11	OMIM:613398
HP:0012759	Neurodevelopmental abnormality	5455	POU3F3	OMIM:618604
HP:0012759	Neurodevelopmental abnormality	1203	CLN5	OMIM:256731
HP:0012759	Neurodevelopmental abnormality	2990	GUSB	OMIM:253220
HP:0012759	Neurodevelopmental abnormality	2990	GUSB	ORPHA:584
HP:0012759	Neurodevelopmental abnormality	10082	GPC6	ORPHA:93329
HP:0012759	Neurodevelopmental abnormality	406932	MIR140	OMIM:618618
HP:0012759	Neurodevelopmental abnormality	91801	ALKBH8	OMIM:618504
HP:0012759	Neurodevelopmental abnormality	23498	HAAO	OMIM:617660
HP:0012759	Neurodevelopmental abnormality	24137	KIF4A	OMIM:300923
HP:0012759	Neurodevelopmental abnormality	9578	CDC42BPB	OMIM:619841
HP:0012759	Neurodevelopmental abnormality	64412	GZF1	OMIM:617662
HP:0012759	Neurodevelopmental abnormality	1841	DTYMK	OMIM:619847
HP:0012759	Neurodevelopmental abnormality	3149	HMGB3	OMIM:300915
HP:0012759	Neurodevelopmental abnormality	9723	SEMA3E	ORPHA:138
HP:0012759	Neurodevelopmental abnormality	7345	UCHL1	OMIM:615491
HP:0012759	Neurodevelopmental abnormality	23347	SMCHD1	OMIM:603457
HP:0012759	Neurodevelopmental abnormality	10087	CERT1	OMIM:616351
HP:0012759	Neurodevelopmental abnormality	23327	NEDD4L	OMIM:617201
HP:0012759	Neurodevelopmental abnormality	1201	CLN3	OMIM:204200
HP:0012759	Neurodevelopmental abnormality	51057	WDPCP	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	84984	CEP19	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	84984	CEP19	OMIM:615703
HP:0012759	Neurodevelopmental abnormality	22954	TRIM32	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	166379	BBS12	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	129880	BBS5	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	8558	CDK10	OMIM:617694
HP:0012759	Neurodevelopmental abnormality	5590	PRKCZ	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	8510	MMP23B	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	7798	LUZP1	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	10630	PDPN	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	10277	UBE4B	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	8514	KCNAB2	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	63976	PRDM16	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	54897	CASZ1	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	285362	SUMF1	ORPHA:585
HP:0012759	Neurodevelopmental abnormality	285362	SUMF1	OMIM:272200
HP:0012759	Neurodevelopmental abnormality	55210	ATAD3A	ORPHA:496790
HP:0012759	Neurodevelopmental abnormality	55210	ATAD3A	OMIM:617183
HP:0012759	Neurodevelopmental abnormality	83479	DDX59	ORPHA:2919
HP:0012759	Neurodevelopmental abnormality	83479	DDX59	OMIM:174300
HP:0012759	Neurodevelopmental abnormality	56098	PCDHGC4	OMIM:619880
HP:0012759	Neurodevelopmental abnormality	1749	DLX5	OMIM:183600
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	ORPHA:123
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	OMIM:262000
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	OMIM:124000
HP:0012759	Neurodevelopmental abnormality	404672	GTF2H5	OMIM:616395
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	OMIM:190350
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	OMIM:190351
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	ORPHA:502
HP:0012759	Neurodevelopmental abnormality	7046	TGFBR1	OMIM:609192
HP:0012759	Neurodevelopmental abnormality	1642	DDB1	OMIM:619426
HP:0012759	Neurodevelopmental abnormality	4126	MANBA	ORPHA:118
HP:0012759	Neurodevelopmental abnormality	4126	MANBA	OMIM:248510
HP:0012759	Neurodevelopmental abnormality	410	ARSA	OMIM:250100
HP:0012759	Neurodevelopmental abnormality	8473	OGT	OMIM:300997
HP:0012759	Neurodevelopmental abnormality	6418	SET	OMIM:618106
HP:0012759	Neurodevelopmental abnormality	5309	PITX3	OMIM:610623
HP:0012759	Neurodevelopmental abnormality	7707	ZNF148	OMIM:617260
HP:0012759	Neurodevelopmental abnormality	6299	SALL1	OMIM:107480
HP:0012759	Neurodevelopmental abnormality	6299	SALL1	ORPHA:857
HP:0012759	Neurodevelopmental abnormality	57520	HECW2	OMIM:617268
HP:0012759	Neurodevelopmental abnormality	147409	DSG4	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3892	KRT86	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3889	KRT83	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3887	KRT81	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	55250	ELP2	OMIM:617270
HP:0012759	Neurodevelopmental abnormality	3039	HBA1	ORPHA:98791
HP:0012759	Neurodevelopmental abnormality	3040	HBA2	ORPHA:98791
HP:0012759	Neurodevelopmental abnormality	51132	RLIM	OMIM:300978
HP:0012759	Neurodevelopmental abnormality	27341	RRP7A	OMIM:619453
HP:0012759	Neurodevelopmental abnormality	5077	PAX3	OMIM:148820
HP:0012759	Neurodevelopmental abnormality	5077	PAX3	ORPHA:896
HP:0012759	Neurodevelopmental abnormality	80311	KLHL15	OMIM:300982
HP:0012759	Neurodevelopmental abnormality	6557	SLC12A1	OMIM:601678
HP:0012759	Neurodevelopmental abnormality	9758	FRMPD4	OMIM:300983
HP:0012759	Neurodevelopmental abnormality	389856	USP27X	OMIM:300984
HP:0012759	Neurodevelopmental abnormality	3188	HNRNPH2	OMIM:300986
HP:0012759	Neurodevelopmental abnormality	4548	MTR	OMIM:250940
HP:0012759	Neurodevelopmental abnormality	57498	KIDINS220	OMIM:617296
HP:0012759	Neurodevelopmental abnormality	57498	KIDINS220	ORPHA:521390
HP:0012759	Neurodevelopmental abnormality	4625	MYH7	ORPHA:437572
HP:0012759	Neurodevelopmental abnormality	55651	NHP2	OMIM:224230
HP:0012759	Neurodevelopmental abnormality	55651	NHP2	OMIM:613987
HP:0012759	Neurodevelopmental abnormality	55505	NOP10	OMIM:224230
HP:0012759	Neurodevelopmental abnormality	2317	FLNB	ORPHA:503
HP:0012759	Neurodevelopmental abnormality	2317	FLNB	OMIM:150250
HP:0012759	Neurodevelopmental abnormality	2131	EXT1	ORPHA:502
HP:0012759	Neurodevelopmental abnormality	11198	SUPT16H	OMIM:619480
HP:0012759	Neurodevelopmental abnormality	405753	DUOXA2	OMIM:274900
HP:0012759	Neurodevelopmental abnormality	405753	DUOXA2	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	136647	MPLKIP	OMIM:234050
HP:0012759	Neurodevelopmental abnormality	374879	ZNF699	OMIM:619488
HP:0012759	Neurodevelopmental abnormality	28952	CCDC22	OMIM:300963
HP:0012759	Neurodevelopmental abnormality	28952	CCDC22	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	79152	FA2H	ORPHA:171629
HP:0012759	Neurodevelopmental abnormality	79152	FA2H	OMIM:612319
HP:0012759	Neurodevelopmental abnormality	9373	PLAA	ORPHA:521426
HP:0012759	Neurodevelopmental abnormality	9373	PLAA	OMIM:617527
HP:0012759	Neurodevelopmental abnormality	1654	DDX3X	OMIM:300958
HP:0012759	Neurodevelopmental abnormality	1654	DDX3X	ORPHA:457260
HP:0012759	Neurodevelopmental abnormality	4851	NOTCH1	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	57514	ARHGAP31	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	57514	ARHGAP31	OMIM:100300
HP:0012759	Neurodevelopmental abnormality	57572	DOCK6	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	285203	EOGT	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	54567	DLL4	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	407975	MIR17HG	ORPHA:391646
HP:0012759	Neurodevelopmental abnormality	26278	SACS	OMIM:270550
HP:0012759	Neurodevelopmental abnormality	80267	EDEM3	OMIM:619493
HP:0012759	Neurodevelopmental abnormality	7157	TP53	OMIM:618165
HP:0012759	Neurodevelopmental abnormality	10491	CRTAP	OMIM:610682
HP:0012759	Neurodevelopmental abnormality	203190	LGI3	OMIM:620007
HP:0012759	Neurodevelopmental abnormality	11043	MID2	OMIM:300928
HP:0012759	Neurodevelopmental abnormality	5468	PPARG	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	284119	CAVIN1	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	2353	FOS	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	857	CAV1	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	9897	WASHC5	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	114034	TOE1	ORPHA:284339
HP:0012759	Neurodevelopmental abnormality	114034	TOE1	OMIM:614969
HP:0012759	Neurodevelopmental abnormality	79023	NUP37	OMIM:618179
HP:0012759	Neurodevelopmental abnormality	118429	ANTXR2	OMIM:228600
HP:0012759	Neurodevelopmental abnormality	23241	PACS2	OMIM:618067
HP:0012759	Neurodevelopmental abnormality	5009	OTC	OMIM:311250
HP:0012759	Neurodevelopmental abnormality	57539	WDR35	OMIM:613610
HP:0012759	Neurodevelopmental abnormality	51506	UFC1	OMIM:618076
HP:0012759	Neurodevelopmental abnormality	63916	ELMO2	ORPHA:3019
HP:0012759	Neurodevelopmental abnormality	4552	MTRR	ORPHA:2169
HP:0012759	Neurodevelopmental abnormality	1763	DNA2	OMIM:615807
HP:0012759	Neurodevelopmental abnormality	64207	IRF2BPL	OMIM:618088
HP:0012759	Neurodevelopmental abnormality	80204	FBXO11	OMIM:618089
HP:0012759	Neurodevelopmental abnormality	5119	CHMP1A	OMIM:614961
HP:0012759	Neurodevelopmental abnormality	3953	LEPR	OMIM:614963
HP:0012759	Neurodevelopmental abnormality	57531	HACE1	ORPHA:464282
HP:0012759	Neurodevelopmental abnormality	57531	HACE1	OMIM:616756
HP:0012759	Neurodevelopmental abnormality	633	BGN	OMIM:300106
HP:0012759	Neurodevelopmental abnormality	113235	SLC46A1	OMIM:229050
HP:0012759	Neurodevelopmental abnormality	4036	LRP2	ORPHA:2143
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	OMIM:607014
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	OMIM:607016
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	ORPHA:93473
HP:0012759	Neurodevelopmental abnormality	339453	TMEM240	ORPHA:98773
HP:0012759	Neurodevelopmental abnormality	339453	TMEM240	OMIM:607454
HP:0012759	Neurodevelopmental abnormality	1629	DBT	OMIM:248600
HP:0012759	Neurodevelopmental abnormality	593	BCKDHA	OMIM:248600
HP:0012759	Neurodevelopmental abnormality	594	BCKDHB	OMIM:248600
HP:0012759	Neurodevelopmental abnormality	9508	ADAMTS3	ORPHA:2136
HP:0012759	Neurodevelopmental abnormality	90624	LYRM7	OMIM:615838
HP:0012759	Neurodevelopmental abnormality	493856	CISD2	ORPHA:3463
HP:0012759	Neurodevelopmental abnormality	7466	WFS1	ORPHA:3463
HP:0012759	Neurodevelopmental abnormality	7466	WFS1	OMIM:222300
HP:0012759	Neurodevelopmental abnormality	57393	CLTRN	ORPHA:2116
HP:0012759	Neurodevelopmental abnormality	440193	CCDC88C	OMIM:236600
HP:0012759	Neurodevelopmental abnormality	7048	TGFBR2	OMIM:610168
HP:0012759	Neurodevelopmental abnormality	445	ASS1	OMIM:215700
HP:0012759	Neurodevelopmental abnormality	8726	EED	ORPHA:3447
HP:0012759	Neurodevelopmental abnormality	8726	EED	OMIM:617561
HP:0012759	Neurodevelopmental abnormality	55023	PHIP	ORPHA:589905
HP:0012759	Neurodevelopmental abnormality	55023	PHIP	OMIM:617991
HP:0012759	Neurodevelopmental abnormality	51134	CEP83	OMIM:615862
HP:0012759	Neurodevelopmental abnormality	8216	LZTR1	OMIM:605275
HP:0012759	Neurodevelopmental abnormality	8600	TNFSF11	OMIM:259710
HP:0012759	Neurodevelopmental abnormality	6948	TCN2	OMIM:275350
HP:0012759	Neurodevelopmental abnormality	79796	ALG9	OMIM:608776
HP:0012759	Neurodevelopmental abnormality	79796	ALG9	ORPHA:79328
HP:0012759	Neurodevelopmental abnormality	1729	DIAPH1	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	59	ACTA2	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	57674	RNF213	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	55593	OTUD5	OMIM:301056
HP:0012759	Neurodevelopmental abnormality	1822	ATN1	OMIM:125370
HP:0012759	Neurodevelopmental abnormality	1822	ATN1	OMIM:618494
HP:0012759	Neurodevelopmental abnormality	998	CDC42	OMIM:616737
HP:0012759	Neurodevelopmental abnormality	998	CDC42	ORPHA:487796
HP:0012759	Neurodevelopmental abnormality	2891	GRIA2	OMIM:618917
HP:0012759	Neurodevelopmental abnormality	4694	NDUFA1	OMIM:301020
HP:0012759	Neurodevelopmental abnormality	55764	IFT122	OMIM:218330
HP:0012759	Neurodevelopmental abnormality	84061	MAGT1	OMIM:301031
HP:0012759	Neurodevelopmental abnormality	10943	MSL3	OMIM:301032
HP:0012759	Neurodevelopmental abnormality	56479	KCNQ5	OMIM:617601
HP:0012759	Neurodevelopmental abnormality	9343	EFTUD2	ORPHA:79113
HP:0012759	Neurodevelopmental abnormality	84172	POLR1B	OMIM:618939
HP:0012759	Neurodevelopmental abnormality	8270	LAGE3	OMIM:301006
HP:0012759	Neurodevelopmental abnormality	117581	TWIST2	OMIM:209885
HP:0012759	Neurodevelopmental abnormality	80781	COL18A1	OMIM:267750
HP:0012759	Neurodevelopmental abnormality	63932	STEEP1	OMIM:301013
HP:0012759	Neurodevelopmental abnormality	56910	STARD7	OMIM:607876
HP:0012759	Neurodevelopmental abnormality	26503	SLC17A5	OMIM:604369
HP:0012759	Neurodevelopmental abnormality	1718	DHCR24	ORPHA:35107
HP:0012759	Neurodevelopmental abnormality	114928	GPRASP2	OMIM:301018
HP:0012759	Neurodevelopmental abnormality	92335	STRADA	OMIM:611087
HP:0012759	Neurodevelopmental abnormality	80210	ARMC9	OMIM:617622
HP:0012759	Neurodevelopmental abnormality	80210	ARMC9	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	85378	TUBGCP6	ORPHA:2518
HP:0012759	Neurodevelopmental abnormality	85378	TUBGCP6	OMIM:251270
HP:0012759	Neurodevelopmental abnormality	27229	TUBGCP4	ORPHA:2518
HP:0012759	Neurodevelopmental abnormality	9451	EIF2AK3	ORPHA:1667
HP:0012759	Neurodevelopmental abnormality	55553	SOX6	OMIM:618971
HP:0012759	Neurodevelopmental abnormality	1804	DPP6	OMIM:616311
HP:0012759	Neurodevelopmental abnormality	55367	PIDD1	OMIM:619827
HP:0012759	Neurodevelopmental abnormality	8942	KYNU	ORPHA:79155
HP:0012759	Neurodevelopmental abnormality	64682	ANAPC1	ORPHA:221008
HP:0012759	Neurodevelopmental abnormality	9524	TECR	OMIM:614020
HP:0012759	Neurodevelopmental abnormality	2895	GRID2	OMIM:616204
HP:0012759	Neurodevelopmental abnormality	6016	RIT1	OMIM:615355
HP:0012759	Neurodevelopmental abnormality	51126	NAA20	OMIM:619717
HP:0012759	Neurodevelopmental abnormality	3008	H1-4	OMIM:617537
HP:0012759	Neurodevelopmental abnormality	3891	KRT85	OMIM:602032
HP:0012759	Neurodevelopmental abnormality	9692	PRORP	OMIM:619737
HP:0012759	Neurodevelopmental abnormality	4853	NOTCH2	OMIM:102500
HP:0012759	Neurodevelopmental abnormality	7920	ABHD16A	OMIM:619735
HP:0012759	Neurodevelopmental abnormality	23761	PISD	OMIM:618889
HP:0012759	Neurodevelopmental abnormality	10715	CERS1	OMIM:616230
HP:0012759	Neurodevelopmental abnormality	4297	KMT2A	ORPHA:319182
HP:0012759	Neurodevelopmental abnormality	4297	KMT2A	OMIM:605130
HP:0012759	Neurodevelopmental abnormality	514	ATP5F1E	OMIM:614053
HP:0012759	Neurodevelopmental abnormality	64132	XYLT2	ORPHA:85194
HP:0012759	Neurodevelopmental abnormality	79600	TCTN1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	200894	ARL13B	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	200894	ARL13B	OMIM:612291
HP:0012759	Neurodevelopmental abnormality	219844	HYLS1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	23247	KATNIP	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	219854	TMEM218	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	9786	KIAA0586	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	79867	TCTN2	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	80776	B9D2	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	10464	PIBF1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	23116	TOGARAM1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	25776	CBY1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	27077	B9D1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	27077	B9D1	OMIM:617120
HP:0012759	Neurodevelopmental abnormality	1789	DNMT3B	OMIM:242860
HP:0012759	Neurodevelopmental abnormality	1789	DNMT3B	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	9056	SLC7A7	ORPHA:470
HP:0012759	Neurodevelopmental abnormality	9056	SLC7A7	OMIM:222700
HP:0012759	Neurodevelopmental abnormality	8363	H4C11	OMIM:619759
HP:0012759	Neurodevelopmental abnormality	8364	H4C3	OMIM:619758
HP:0012759	Neurodevelopmental abnormality	145258	GSC	OMIM:602471
HP:0012759	Neurodevelopmental abnormality	53335	BCL11A	OMIM:617101
HP:0012759	Neurodevelopmental abnormality	11261	CHP1	OMIM:618438
HP:0012759	Neurodevelopmental abnormality	9338	TCEAL1	OMIM:301094
HP:0012759	Neurodevelopmental abnormality	2556	GABRA3	OMIM:301091
HP:0012759	Neurodevelopmental abnormality	5373	PMM2	ORPHA:79318
HP:0012759	Neurodevelopmental abnormality	4351	MPI	ORPHA:79319
HP:0012759	Neurodevelopmental abnormality	23162	MAPK8IP3	OMIM:618443
HP:0012759	Neurodevelopmental abnormality	4099	MAG	ORPHA:459056
HP:0012759	Neurodevelopmental abnormality	23219	FBXO28	OMIM:619777
HP:0012759	Neurodevelopmental abnormality	79087	ALG12	ORPHA:79324
HP:0012759	Neurodevelopmental abnormality	6528	SLC5A5	OMIM:274400
HP:0012759	Neurodevelopmental abnormality	6528	SLC5A5	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	257	ALX3	OMIM:136760
HP:0012759	Neurodevelopmental abnormality	79882	ZC3H14	OMIM:617125
HP:0012759	Neurodevelopmental abnormality	6878	TAF6	OMIM:617126
HP:0012759	Neurodevelopmental abnormality	5062	PAK2	OMIM:618458
HP:0012759	Neurodevelopmental abnormality	84706	GPT2	OMIM:616281
HP:0012759	Neurodevelopmental abnormality	84706	GPT2	ORPHA:477673
HP:0012759	Neurodevelopmental abnormality	5898	RALA	OMIM:619311
HP:0012759	Neurodevelopmental abnormality	4143	MAT1A	OMIM:250850
HP:0012759	Neurodevelopmental abnormality	1436	CSF1R	OMIM:618476
HP:0012759	Neurodevelopmental abnormality	2623	GATA1	OMIM:190685
HP:0012759	Neurodevelopmental abnormality	29998	BICRA	OMIM:619325
HP:0012759	Neurodevelopmental abnormality	28982	FLVCR1	ORPHA:88628
HP:0012759	Neurodevelopmental abnormality	28982	FLVCR1	OMIM:609033
HP:0012759	Neurodevelopmental abnormality	23221	RHOBTB2	OMIM:618004
HP:0012759	Neurodevelopmental abnormality	2530	FUT8	OMIM:618005
HP:0012759	Neurodevelopmental abnormality	1108	CHD4	OMIM:617159
HP:0012759	Neurodevelopmental abnormality	5903	RANBP2	ORPHA:88619
HP:0012759	Neurodevelopmental abnormality	3977	LIFR	OMIM:601559
HP:0012759	Neurodevelopmental abnormality	2628	GATM	OMIM:612718
HP:0012759	Neurodevelopmental abnormality	4882	NPR2	OMIM:602875
HP:0012759	Neurodevelopmental abnormality	440138	ALG11	ORPHA:280071
HP:0012759	Neurodevelopmental abnormality	79143	MBOAT7	OMIM:617188
HP:0012759	Neurodevelopmental abnormality	498	ATP5F1A	OMIM:620358
HP:0012759	Neurodevelopmental abnormality	51339	DACT1	ORPHA:857
HP:0012759	Neurodevelopmental abnormality	627	BDNF	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	55252	ASXL2	OMIM:617190
HP:0012759	Neurodevelopmental abnormality	23154	NCDN	OMIM:619373
HP:0012759	Neurodevelopmental abnormality	10295	BCKDK	OMIM:614923
HP:0012759	Neurodevelopmental abnormality	55074	OXR1	OMIM:213000
HP:0012759	Neurodevelopmental abnormality	5076	PAX2	OMIM:120330
HP:0012759	Neurodevelopmental abnormality	389434	IYD	OMIM:274800
HP:0012759	Neurodevelopmental abnormality	389434	IYD	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	221927	BRAT1	OMIM:618056
HP:0012759	Neurodevelopmental abnormality	132158	GLYCTK	ORPHA:941
HP:0012759	Neurodevelopmental abnormality	132158	GLYCTK	OMIM:220120
HP:0012759	Neurodevelopmental abnormality	23118	TAB2	ORPHA:228410
HP:0012759	Neurodevelopmental abnormality	8443	GNPAT	OMIM:222765
HP:0012759	Neurodevelopmental abnormality	1146	CHRNG	OMIM:265000
HP:0012759	Neurodevelopmental abnormality	7102	TSPAN7	OMIM:300210
HP:0012759	Neurodevelopmental abnormality	3899	AFF3	OMIM:619297
HP:0012759	Neurodevelopmental abnormality	8131	NPRL3	ORPHA:98820
HP:0012759	Neurodevelopmental abnormality	10641	NPRL2	ORPHA:98820
HP:0012759	Neurodevelopmental abnormality	649	BMP1	OMIM:614856
HP:0012759	Neurodevelopmental abnormality	197257	LDHD	OMIM:245450
HP:0012759	Neurodevelopmental abnormality	5828	PEX2	OMIM:614866
HP:0012759	Neurodevelopmental abnormality	540	ATP7B	ORPHA:905
HP:0012759	Neurodevelopmental abnormality	2627	GATA6	ORPHA:2255
HP:0012759	Neurodevelopmental abnormality	6804	STX1A	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	7461	CLIP2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	84277	DNAJC30	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	8468	FKBP6	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	5982	RFC2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	2969	GTF2I	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	3984	LIMK1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	9569	GTF2IRD1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	155382	VPS37D	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	155368	METTL27	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	114049	BUD23	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	7458	EIF4H	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	84163	GTF2IRD2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	9275	BCL7B	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	26608	TBL2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	653361	NCF1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	135886	TMEM270	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	9031	BAZ1B	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	78989	COLEC11	OMIM:265050
HP:0012759	Neurodevelopmental abnormality	78989	COLEC11	ORPHA:293843
HP:0012759	Neurodevelopmental abnormality	728294	D2HGDH	OMIM:600721
HP:0012759	Neurodevelopmental abnormality	6628	SNRPB	ORPHA:1393
HP:0012759	Neurodevelopmental abnormality	6628	SNRPB	OMIM:117650
HP:0012759	Neurodevelopmental abnormality	9409	PEX16	OMIM:614877
HP:0012759	Neurodevelopmental abnormality	5295	PIK3R1	OMIM:269880
HP:0012759	Neurodevelopmental abnormality	63901	FAM111A	OMIM:127000
HP:0012759	Neurodevelopmental abnormality	2273	FHL1	ORPHA:98863
HP:0012759	Neurodevelopmental abnormality	2273	FHL1	OMIM:300280
HP:0012759	Neurodevelopmental abnormality	2010	EMD	ORPHA:98863
HP:0012759	Neurodevelopmental abnormality	57094	CPA6	OMIM:614417
HP:0012759	Neurodevelopmental abnormality	79188	TMEM43	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	23224	SYNE2	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	4683	NBN	OMIM:251260
HP:0012759	Neurodevelopmental abnormality	27249	MMADHC	OMIM:277410
HP:0012759	Neurodevelopmental abnormality	27249	MMADHC	ORPHA:79283
HP:0012759	Neurodevelopmental abnormality	101929726	MYMX	ORPHA:1358
HP:0012759	Neurodevelopmental abnormality	8671	SLC4A4	OMIM:604278
HP:0012759	Neurodevelopmental abnormality	51116	MRPS2	OMIM:617950
HP:0012759	Neurodevelopmental abnormality	9512	PMPCB	OMIM:617954
HP:0012759	Neurodevelopmental abnormality	7173	TPO	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	50506	DUOX2	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	686	BTD	ORPHA:79241
HP:0012759	Neurodevelopmental abnormality	3549	IHH	OMIM:607778
HP:0012759	Neurodevelopmental abnormality	338917	VSX2	OMIM:610093
HP:0012759	Neurodevelopmental abnormality	54658	UGT1A1	ORPHA:79234
HP:0012759	Neurodevelopmental abnormality	51128	SAR1B	OMIM:246700
HP:0012759	Neurodevelopmental abnormality	6505	SLC1A1	OMIM:222730
HP:0012759	Neurodevelopmental abnormality	57468	SLC12A5	OMIM:616645
HP:0012759	Neurodevelopmental abnormality	2643	GCH1	ORPHA:98808
HP:0012759	Neurodevelopmental abnormality	3615	IMPDH2	ORPHA:98808
HP:0012759	Neurodevelopmental abnormality	4337	MOCS1	OMIM:252150
HP:0012759	Neurodevelopmental abnormality	7507	XPA	OMIM:278700
HP:0012759	Neurodevelopmental abnormality	25915	NDUFAF3	ORPHA:70474
HP:0012759	Neurodevelopmental abnormality	4714	NDUFB8	ORPHA:70474
HP:0012759	Neurodevelopmental abnormality	151	ADRA2B	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	10299	MARCHF6	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	6900	CNTN2	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	51305	KCNK9	OMIM:612292
HP:0012759	Neurodevelopmental abnormality	10312	TCIRG1	ORPHA:1782
HP:0012759	Neurodevelopmental abnormality	25974	MMACHC	ORPHA:79282
HP:0012759	Neurodevelopmental abnormality	25974	MMACHC	OMIM:277400
HP:0012759	Neurodevelopmental abnormality	63929	XPNPEP3	OMIM:613159
HP:0012759	Neurodevelopmental abnormality	55788	LMBRD1	ORPHA:79284
HP:0012759	Neurodevelopmental abnormality	10225	CD96	ORPHA:1308
HP:0012759	Neurodevelopmental abnormality	1807	DPYS	OMIM:222748
HP:0012759	Neurodevelopmental abnormality	6223	RPS19	OMIM:105650
HP:0012759	Neurodevelopmental abnormality	9130	FAM50A	OMIM:300261
HP:0012759	Neurodevelopmental abnormality	64072	CDH23	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	124590	USH1G	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	83715	ESPN	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	8738	CRADD	OMIM:614499
HP:0012759	Neurodevelopmental abnormality	5052	PRDX1	OMIM:277400
HP:0012759	Neurodevelopmental abnormality	2582	GALE	OMIM:230350
HP:0012759	Neurodevelopmental abnormality	10749	KIF1C	ORPHA:397946
HP:0012759	Neurodevelopmental abnormality	85465	SELENOI	ORPHA:506353
HP:0012759	Neurodevelopmental abnormality	85465	SELENOI	OMIM:618768
HP:0012759	Neurodevelopmental abnormality	7528	YY1	ORPHA:506358
HP:0012759	Neurodevelopmental abnormality	29899	GPSM2	OMIM:604213
HP:0012759	Neurodevelopmental abnormality	11253	MAN1B1	ORPHA:397941
HP:0012759	Neurodevelopmental abnormality	55703	POLR3B	OMIM:614381
HP:0012759	Neurodevelopmental abnormality	51256	TBC1D7	OMIM:248000
HP:0012759	Neurodevelopmental abnormality	3094	HINT1	ORPHA:324442
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	OMIM:615352
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	ORPHA:370959
HP:0012759	Neurodevelopmental abnormality	1161	ERCC8	ORPHA:90324
HP:0012759	Neurodevelopmental abnormality	2074	ERCC6	ORPHA:90324
HP:0012759	Neurodevelopmental abnormality	7021	TFAP2B	OMIM:169100
HP:0012759	Neurodevelopmental abnormality	26040	SETBP1	ORPHA:436151
HP:0012759	Neurodevelopmental abnormality	1788	DNMT3A	ORPHA:404443
HP:0012759	Neurodevelopmental abnormality	5457	POU4F1	ORPHA:314647
HP:0012759	Neurodevelopmental abnormality	23261	CAMTA1	ORPHA:314647
HP:0012759	Neurodevelopmental abnormality	23261	CAMTA1	OMIM:614756
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1	ORPHA:93950
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1	ORPHA:93945
HP:0012759	Neurodevelopmental abnormality	4125	MAN2B1	ORPHA:309282
HP:0012759	Neurodevelopmental abnormality	4125	MAN2B1	ORPHA:309288
HP:0012759	Neurodevelopmental abnormality	4522	MTHFD1	OMIM:617780
HP:0012759	Neurodevelopmental abnormality	2737	GLI3	ORPHA:380
HP:0012759	Neurodevelopmental abnormality	2737	GLI3	OMIM:175700
HP:0012759	Neurodevelopmental abnormality	5917	RARS1	ORPHA:438114
HP:0012759	Neurodevelopmental abnormality	5917	RARS1	OMIM:616140
HP:0012759	Neurodevelopmental abnormality	8309	ACOX2	OMIM:617308
HP:0012759	Neurodevelopmental abnormality	6595	SMARCA2	ORPHA:2728
HP:0012759	Neurodevelopmental abnormality	2132	EXT2	ORPHA:466926
HP:0012759	Neurodevelopmental abnormality	57156	TMEM63C	OMIM:619966
HP:0012759	Neurodevelopmental abnormality	1476	CSTB	OMIM:254800
HP:0012759	Neurodevelopmental abnormality	3764	KCNJ8	ORPHA:1517
HP:0012759	Neurodevelopmental abnormality	10060	ABCC9	ORPHA:1517
HP:0012759	Neurodevelopmental abnormality	10060	ABCC9	OMIM:239850
HP:0012759	Neurodevelopmental abnormality	7086	TKT	ORPHA:488618
HP:0012759	Neurodevelopmental abnormality	488	ATP2A2	OMIM:124200
HP:0012759	Neurodevelopmental abnormality	90	ACVR1	OMIM:135100
HP:0012759	Neurodevelopmental abnormality	84572	GNPTG	OMIM:252605
HP:0012759	Neurodevelopmental abnormality	54	ACP5	OMIM:607944
HP:0012759	Neurodevelopmental abnormality	80153	EDC3	OMIM:616460
HP:0012759	Neurodevelopmental abnormality	284058	KANSL1	ORPHA:363958
HP:0012759	Neurodevelopmental abnormality	284058	KANSL1	ORPHA:363965
HP:0012759	Neurodevelopmental abnormality	55154	MSTO1	OMIM:617675
HP:0012759	Neurodevelopmental abnormality	55154	MSTO1	ORPHA:502423
HP:0012759	Neurodevelopmental abnormality	6884	TAF13	OMIM:617432
HP:0012759	Neurodevelopmental abnormality	10939	AFG3L2	ORPHA:313772
HP:0012759	Neurodevelopmental abnormality	2626	GATA4	ORPHA:251071
HP:0012759	Neurodevelopmental abnormality	7020	TFAP2A	OMIM:113620
HP:0012759	Neurodevelopmental abnormality	1605	DAG1	ORPHA:280333
HP:0012759	Neurodevelopmental abnormality	833	CARS1	OMIM:618891
HP:0012759	Neurodevelopmental abnormality	80208	SPG11	ORPHA:2822
HP:0012759	Neurodevelopmental abnormality	200734	SPRED2	OMIM:619745
HP:0012759	Neurodevelopmental abnormality	79731	NARS2	OMIM:616239
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	ORPHA:90650
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	OMIM:311300
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	OMIM:300049
HP:0012759	Neurodevelopmental abnormality	5192	PEX10	ORPHA:247815
HP:0012759	Neurodevelopmental abnormality	81794	ADAMTS10	OMIM:277600
HP:0012759	Neurodevelopmental abnormality	81794	ADAMTS10	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	63895	PIEZO2	OMIM:114300
HP:0012759	Neurodevelopmental abnormality	55280	CWF19L1	OMIM:616127
HP:0012759	Neurodevelopmental abnormality	79633	FAT4	OMIM:616006
HP:0012759	Neurodevelopmental abnormality	54902	TTC19	OMIM:615157
HP:0012759	Neurodevelopmental abnormality	5354	PLP1	ORPHA:280219
HP:0012759	Neurodevelopmental abnormality	5354	PLP1	OMIM:312920
HP:0012759	Neurodevelopmental abnormality	56052	ALG1	ORPHA:79327
HP:0012759	Neurodevelopmental abnormality	10908	PNPLA6	OMIM:215470
HP:0012759	Neurodevelopmental abnormality	10021	HCN4	OMIM:619521
HP:0012759	Neurodevelopmental abnormality	1615	DARS1	OMIM:615281
HP:0012759	Neurodevelopmental abnormality	7750	ZMYM2	OMIM:619522
HP:0012759	Neurodevelopmental abnormality	8733	GPAA1	ORPHA:529665
HP:0012759	Neurodevelopmental abnormality	27086	FOXP1	ORPHA:391372
HP:0012759	Neurodevelopmental abnormality	6942	TCF20	OMIM:618430
HP:0012759	Neurodevelopmental abnormality	2720	GLB1	OMIM:230650
HP:0012759	Neurodevelopmental abnormality	9158	FIBP	OMIM:617107
HP:0012759	Neurodevelopmental abnormality	641	BLM	OMIM:210900
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	ORPHA:168624
HP:0012759	Neurodevelopmental abnormality	10531	PITRM1	OMIM:619405
HP:0012759	Neurodevelopmental abnormality	57492	ARID1B	ORPHA:251056
HP:0012759	Neurodevelopmental abnormality	10743	RAI1	ORPHA:1713
HP:0012759	Neurodevelopmental abnormality	38	ACAT1	ORPHA:134
HP:0012759	Neurodevelopmental abnormality	51062	ATL1	OMIM:182600
HP:0012759	Neurodevelopmental abnormality	51322	WAC	ORPHA:466950
HP:0012759	Neurodevelopmental abnormality	2072	ERCC4	OMIM:610965
HP:0012759	Neurodevelopmental abnormality	178	AGL	ORPHA:366
HP:0012759	Neurodevelopmental abnormality	2742	GLRA2	OMIM:301076
HP:0012759	Neurodevelopmental abnormality	25970	SH2B1	ORPHA:261197
HP:0012759	Neurodevelopmental abnormality	9742	IFT140	OMIM:266920
HP:0012759	Neurodevelopmental abnormality	5111	PCNA	ORPHA:438134
HP:0012759	Neurodevelopmental abnormality	60529	ALX4	ORPHA:228390
HP:0012759	Neurodevelopmental abnormality	2583	B4GALNT1	OMIM:609195
HP:0012759	Neurodevelopmental abnormality	3242	HPD	OMIM:276710
HP:0012759	Neurodevelopmental abnormality	3242	HPD	OMIM:140350
HP:0012759	Neurodevelopmental abnormality	8905	AP1S2	OMIM:304340
HP:0012759	Neurodevelopmental abnormality	2902	GRIN1	ORPHA:208447
HP:0012759	Neurodevelopmental abnormality	54808	DYM	ORPHA:239
HP:0012759	Neurodevelopmental abnormality	3479	IGF1	ORPHA:73272
HP:0012759	Neurodevelopmental abnormality	57526	PCDH19	ORPHA:101039
HP:0012759	Neurodevelopmental abnormality	23111	SPART	OMIM:275900
HP:0012759	Neurodevelopmental abnormality	3155	HMGCL	ORPHA:20
HP:0012759	Neurodevelopmental abnormality	388015	RTL1	ORPHA:254534
HP:0012759	Neurodevelopmental abnormality	8788	DLK1	ORPHA:254534
HP:0012759	Neurodevelopmental abnormality	55384	MEG3	ORPHA:254534
HP:0012759	Neurodevelopmental abnormality	10466	COG5	ORPHA:263487
HP:0012759	Neurodevelopmental abnormality	1859	DYRK1A	ORPHA:268261
HP:0012759	Neurodevelopmental abnormality	6885	MAP3K7	OMIM:617137
HP:0012759	Neurodevelopmental abnormality	1756	DMD	OMIM:310200
HP:0012759	Neurodevelopmental abnormality	9256	TSPOAP1	ORPHA:101150
HP:0012759	Neurodevelopmental abnormality	7054	TH	ORPHA:101150
HP:0012759	Neurodevelopmental abnormality	170302	ARX	ORPHA:94083
HP:0012759	Neurodevelopmental abnormality	4568	MT-TL2	ORPHA:663
HP:0012759	Neurodevelopmental abnormality	4567	MT-TL1	ORPHA:663
HP:0012759	Neurodevelopmental abnormality	4570	MT-TN	ORPHA:663
HP:0012759	Neurodevelopmental abnormality	4574	MT-TS1	ORPHA:663
HP:0012759	Neurodevelopmental abnormality	6792	CDKL5	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	22854	NTNG1	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	9568	GABBR2	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	4204	MECP2	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	4204	MECP2	OMIM:300055
HP:0012759	Neurodevelopmental abnormality	8243	SMC1A	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	2972	BRF1	ORPHA:444072
HP:0012759	Neurodevelopmental abnormality	23102	TBC1D2B	OMIM:619323
HP:0012759	Neurodevelopmental abnormality	23102	TBC1D2B	ORPHA:397973
HP:0012759	Neurodevelopmental abnormality	56521	DNAJC12	OMIM:617384
HP:0012759	Neurodevelopmental abnormality	100151683	RNU4ATAC	OMIM:226960
HP:0012759	Neurodevelopmental abnormality	100151683	RNU4ATAC	OMIM:616651
HP:0012759	Neurodevelopmental abnormality	3714	JAG2	OMIM:619566
HP:0012759	Neurodevelopmental abnormality	51119	SBDS	OMIM:260400
HP:0012759	Neurodevelopmental abnormality	134218	DNAJC21	OMIM:260400
HP:0012759	Neurodevelopmental abnormality	6729	SRP54	OMIM:260400
HP:0012759	Neurodevelopmental abnormality	4041	LRP5	OMIM:259770
HP:0012759	Neurodevelopmental abnormality	4041	LRP5	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	8888	MCM3AP	OMIM:618124
HP:0012759	Neurodevelopmental abnormality	51473	DCDC2	OMIM:617394
HP:0012759	Neurodevelopmental abnormality	537	ATP6AP1	OMIM:300972
HP:0012759	Neurodevelopmental abnormality	4998	ORC1	OMIM:224690
HP:0012759	Neurodevelopmental abnormality	54496	PRMT7	OMIM:617157
HP:0012759	Neurodevelopmental abnormality	54496	PRMT7	ORPHA:464288
HP:0012759	Neurodevelopmental abnormality	2664	GDI1	OMIM:300849
HP:0012759	Neurodevelopmental abnormality	201163	FLCN	OMIM:610883
HP:0012759	Neurodevelopmental abnormality	116442	RAB39B	OMIM:311510
HP:0012759	Neurodevelopmental abnormality	1312	COMT	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	221037	JMJD1C	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	2812	GP1BB	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	6239	RREB1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	6899	TBX1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	7290	HIRA	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	9632	SEC24C	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	7353	UFD1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	421	ARVCF	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	1009	CDH11	OMIM:211380
HP:0012759	Neurodevelopmental abnormality	1137	CHRNA4	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	1135	CHRNA2	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	57010	CABP4	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	1141	CHRNB2	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	57582	KCNT1	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	1392	CRH	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	9681	DEPDC5	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	8091	HMGA2	ORPHA:94063
HP:0012759	Neurodevelopmental abnormality	23592	LEMD3	ORPHA:94063
HP:0012759	Neurodevelopmental abnormality	10013	HDAC6	OMIM:300863
HP:0012759	Neurodevelopmental abnormality	10013	HDAC6	ORPHA:163966
HP:0012759	Neurodevelopmental abnormality	9757	KMT2B	OMIM:617284
HP:0012759	Neurodevelopmental abnormality	4613	MYCN	OMIM:164280
HP:0012759	Neurodevelopmental abnormality	57187	THOC2	ORPHA:457240
HP:0012759	Neurodevelopmental abnormality	9401	RECQL4	OMIM:266280
HP:0012759	Neurodevelopmental abnormality	55186	SLC25A36	OMIM:620211
HP:0012759	Neurodevelopmental abnormality	3251	HPRT1	ORPHA:510
HP:0012759	Neurodevelopmental abnormality	10771	ZMYND11	OMIM:616083
HP:0012759	Neurodevelopmental abnormality	6611	SMS	ORPHA:3063
HP:0012759	Neurodevelopmental abnormality	1021	CDK6	OMIM:616080
HP:0012759	Neurodevelopmental abnormality	55213	RCBTB1	OMIM:617175
HP:0012759	Neurodevelopmental abnormality	29957	SLC25A24	ORPHA:2095
HP:0012759	Neurodevelopmental abnormality	2892	GRIA3	ORPHA:364028
HP:0012759	Neurodevelopmental abnormality	8452	CUL3	OMIM:619239
HP:0012759	Neurodevelopmental abnormality	92935	MARS2	ORPHA:314603
HP:0012759	Neurodevelopmental abnormality	246329	STAC3	ORPHA:168572
HP:0012759	Neurodevelopmental abnormality	5781	PTPN11	ORPHA:500
HP:0012759	Neurodevelopmental abnormality	5781	PTPN11	OMIM:151100
HP:0012759	Neurodevelopmental abnormality	673	BRAF	ORPHA:500
HP:0012759	Neurodevelopmental abnormality	5894	RAF1	ORPHA:500
HP:0012759	Neurodevelopmental abnormality	79147	FKRP	ORPHA:370959
HP:0012759	Neurodevelopmental abnormality	29954	POMT2	ORPHA:370959
HP:0012759	Neurodevelopmental abnormality	55624	POMGNT1	ORPHA:370959
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	ORPHA:370959
HP:0012759	Neurodevelopmental abnormality	23067	SETD1B	OMIM:619000
HP:0012759	Neurodevelopmental abnormality	6197	RPS6KA3	OMIM:300844
HP:0012759	Neurodevelopmental abnormality	288	ANK3	ORPHA:356996
HP:0012759	Neurodevelopmental abnormality	55717	WDR11	OMIM:620237
HP:0012759	Neurodevelopmental abnormality	84905	ZNF341	OMIM:618282
HP:0012759	Neurodevelopmental abnormality	4693	NDP	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	1499	CTNNB1	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	23554	TSPAN12	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	79797	ZNF408	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	8322	FZD4	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	4508	MT-ATP6	ORPHA:225154
HP:0012759	Neurodevelopmental abnormality	23636	NUP62	ORPHA:225154
HP:0012759	Neurodevelopmental abnormality	103	ADAR	ORPHA:225154
HP:0012759	Neurodevelopmental abnormality	4256	MGP	OMIM:245150
HP:0012759	Neurodevelopmental abnormality	4256	MGP	ORPHA:85202
HP:0012759	Neurodevelopmental abnormality	2332	FMR1	ORPHA:261483
HP:0012759	Neurodevelopmental abnormality	6571	SLC18A2	OMIM:618049
HP:0012759	Neurodevelopmental abnormality	89970	RSPRY1	ORPHA:457395
HP:0012759	Neurodevelopmental abnormality	23133	PHF8	ORPHA:85287
HP:0012759	Neurodevelopmental abnormality	23133	PHF8	OMIM:300263
HP:0012759	Neurodevelopmental abnormality	92344	GORAB	ORPHA:2078
HP:0012759	Neurodevelopmental abnormality	5831	PYCR1	ORPHA:2078
HP:0012759	Neurodevelopmental abnormality	8799	PEX11B	OMIM:614920
HP:0012759	Neurodevelopmental abnormality	10020	GNE	ORPHA:3166
HP:0012759	Neurodevelopmental abnormality	10020	GNE	OMIM:269921
HP:0012759	Neurodevelopmental abnormality	10079	ATP9A	OMIM:620242
HP:0012759	Neurodevelopmental abnormality	4668	NAGA	OMIM:609242
HP:0012759	Neurodevelopmental abnormality	4668	NAGA	ORPHA:79280
HP:0012759	Neurodevelopmental abnormality	5611	DNAJC3	ORPHA:445062
HP:0012759	Neurodevelopmental abnormality	1630	DCC	OMIM:157600
HP:0012759	Neurodevelopmental abnormality	1630	DCC	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	91574	MTRFR	ORPHA:320375
HP:0012759	Neurodevelopmental abnormality	375056	MIA3	OMIM:619269
HP:0012759	Neurodevelopmental abnormality	284361	EMC10	OMIM:619264
HP:0012759	Neurodevelopmental abnormality	9652	SKIC3	ORPHA:84064
HP:0012759	Neurodevelopmental abnormality	6499	SKIC2	ORPHA:84064
HP:0012759	Neurodevelopmental abnormality	55315	SLC29A3	ORPHA:168569
HP:0012759	Neurodevelopmental abnormality	2138	EYA1	OMIM:166780
HP:0012759	Neurodevelopmental abnormality	5696	PSMB8	OMIM:256040
HP:0012759	Neurodevelopmental abnormality	3516	RBPJ	OMIM:614814
HP:0012759	Neurodevelopmental abnormality	8085	KMT2D	OMIM:147920
HP:0012759	Neurodevelopmental abnormality	7403	KDM6A	OMIM:147920
HP:0012759	Neurodevelopmental abnormality	23443	SLC35A3	ORPHA:370943
HP:0012759	Neurodevelopmental abnormality	324	APC	ORPHA:261584
HP:0012759	Neurodevelopmental abnormality	6853	SYN1	OMIM:300115
HP:0012759	Neurodevelopmental abnormality	1183	CLCN4	OMIM:300114
HP:0012759	Neurodevelopmental abnormality	84282	RNF135	ORPHA:137634
HP:0012759	Neurodevelopmental abnormality	10806	SDCCAG8	OMIM:613615
HP:0012759	Neurodevelopmental abnormality	23126	POGZ	ORPHA:468678
HP:0012759	Neurodevelopmental abnormality	64324	NSD1	ORPHA:821
HP:0012759	Neurodevelopmental abnormality	29072	SETD2	ORPHA:821
HP:0012759	Neurodevelopmental abnormality	10297	APC2	ORPHA:821
HP:0012759	Neurodevelopmental abnormality	10093	ARPC4	OMIM:620141
HP:0012759	Neurodevelopmental abnormality	6658	SOX3	OMIM:300123
HP:0012759	Neurodevelopmental abnormality	4281	MID1	OMIM:300000
HP:0012759	Neurodevelopmental abnormality	56623	INPP5E	ORPHA:75858
HP:0012759	Neurodevelopmental abnormality	10847	SRCAP	ORPHA:2044
HP:0012759	Neurodevelopmental abnormality	55780	ERMARD	ORPHA:75857
HP:0012759	Neurodevelopmental abnormality	6866	TAC3	OMIM:614839
HP:0012759	Neurodevelopmental abnormality	25778	DSTYK	OMIM:270750
HP:0012759	Neurodevelopmental abnormality	9382	COG1	ORPHA:263508
HP:0012759	Neurodevelopmental abnormality	64601	VPS16	OMIM:619291
HP:0012759	Neurodevelopmental abnormality	274	BIN1	OMIM:255200
HP:0012759	Neurodevelopmental abnormality	274	BIN1	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	50814	NSDHL	OMIM:308050
HP:0012759	Neurodevelopmental abnormality	1757	SARDH	ORPHA:3129
HP:0012759	Neurodevelopmental abnormality	5631	PRPS1	ORPHA:1187
HP:0012759	Neurodevelopmental abnormality	7080	NKX2-1	ORPHA:209905
HP:0012759	Neurodevelopmental abnormality	8546	AP3B1	OMIM:608233
HP:0012759	Neurodevelopmental abnormality	1678	TIMM8A	OMIM:304700
HP:0012759	Neurodevelopmental abnormality	4591	TRIM37	OMIM:253250
HP:0012759	Neurodevelopmental abnormality	60	ACTB	OMIM:607371
HP:0012759	Neurodevelopmental abnormality	124512	METTL23	OMIM:615942
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:79076
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	OMIM:158350
HP:0012759	Neurodevelopmental abnormality	657	BMPR1A	ORPHA:79076
HP:0012759	Neurodevelopmental abnormality	25942	SIN3A	OMIM:613406
HP:0012759	Neurodevelopmental abnormality	25942	SIN3A	ORPHA:500166
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:98811
HP:0012759	Neurodevelopmental abnormality	112476	PRRT2	ORPHA:98811
HP:0012759	Neurodevelopmental abnormality	9907	AP5Z1	OMIM:613647
HP:0012759	Neurodevelopmental abnormality	9711	RUBCN	OMIM:615705
HP:0012759	Neurodevelopmental abnormality	65109	UPF3B	OMIM:300676
HP:0012759	Neurodevelopmental abnormality	4803	NGF	ORPHA:64752
HP:0012759	Neurodevelopmental abnormality	4803	NGF	OMIM:608654
HP:0012759	Neurodevelopmental abnormality	4914	NTRK1	ORPHA:64752
HP:0012759	Neurodevelopmental abnormality	3748	KCNC3	ORPHA:98768
HP:0012759	Neurodevelopmental abnormality	4784	NFIX	ORPHA:420179
HP:0012759	Neurodevelopmental abnormality	80067	DCAF17	ORPHA:3464
HP:0012759	Neurodevelopmental abnormality	2259	FGF14	ORPHA:98764
HP:0012759	Neurodevelopmental abnormality	11128	POLR3A	ORPHA:447896
HP:0012759	Neurodevelopmental abnormality	55027	HEATR3	OMIM:620072
HP:0012759	Neurodevelopmental abnormality	1737	DLAT	OMIM:245348
HP:0012759	Neurodevelopmental abnormality	2200	FBN1	OMIM:608328
HP:0012759	Neurodevelopmental abnormality	2200	FBN1	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	182	JAG1	OMIM:118450
HP:0012759	Neurodevelopmental abnormality	3708	ITPR1	OMIM:117360
HP:0012759	Neurodevelopmental abnormality	5422	POLA1	ORPHA:163976
HP:0012759	Neurodevelopmental abnormality	7443	VRK1	OMIM:607596
HP:0012759	Neurodevelopmental abnormality	55906	ZC4H2	ORPHA:3454
HP:0012759	Neurodevelopmental abnormality	55906	ZC4H2	OMIM:314580
HP:0012759	Neurodevelopmental abnormality	3481	IGF2	ORPHA:2128
HP:0012759	Neurodevelopmental abnormality	10984	KCNQ1OT1	ORPHA:2128
HP:0012759	Neurodevelopmental abnormality	283120	H19	ORPHA:2128
HP:0012759	Neurodevelopmental abnormality	55129	ANO10	ORPHA:284289
HP:0012759	Neurodevelopmental abnormality	254065	BRWD3	OMIM:300659
HP:0012759	Neurodevelopmental abnormality	4053	LTBP2	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	2146	EZH2	OMIM:277590
HP:0012759	Neurodevelopmental abnormality	55835	CENPJ	OMIM:613676
HP:0012759	Neurodevelopmental abnormality	5048	PAFAH1B1	ORPHA:95232
HP:0012759	Neurodevelopmental abnormality	92154	MTSS2	OMIM:620086
HP:0012759	Neurodevelopmental abnormality	6567	SLC16A2	ORPHA:59
HP:0012759	Neurodevelopmental abnormality	2033	EP300	OMIM:613684
HP:0012759	Neurodevelopmental abnormality	23590	PDSS1	OMIM:614651
HP:0012759	Neurodevelopmental abnormality	6307	MSMO1	OMIM:616834
HP:0012759	Neurodevelopmental abnormality	79738	BBS10	OMIM:615987
HP:0012759	Neurodevelopmental abnormality	6664	SOX11	OMIM:615866
HP:0012759	Neurodevelopmental abnormality	57410	SCYL1	OMIM:616719
HP:0012759	Neurodevelopmental abnormality	57410	SCYL1	ORPHA:466794
HP:0012759	Neurodevelopmental abnormality	84705	GTPBP3	ORPHA:444013
HP:0012759	Neurodevelopmental abnormality	10290	SPEG	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	6261	RYR1	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	7273	TTN	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	5888	RAD51	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	10126	DNAL4	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	9423	NTN1	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	2245	FGD1	OMIM:305400
HP:0012759	Neurodevelopmental abnormality	51621	KLF13	OMIM:612001
HP:0012759	Neurodevelopmental abnormality	1139	CHRNA7	OMIM:612001
HP:0012759	Neurodevelopmental abnormality	5648	MASP1	OMIM:257920
HP:0012759	Neurodevelopmental abnormality	57704	GBA2	ORPHA:352641
HP:0012759	Neurodevelopmental abnormality	6712	SPTBN2	ORPHA:352403
HP:0012759	Neurodevelopmental abnormality	55187	VPS13D	OMIM:607317
HP:0012759	Neurodevelopmental abnormality	84816	RTN4IP1	OMIM:616732
HP:0012759	Neurodevelopmental abnormality	131118	DNAJC19	OMIM:610198
HP:0012759	Neurodevelopmental abnormality	169792	GLIS3	OMIM:610199
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	ORPHA:306617
HP:0012759	Neurodevelopmental abnormality	767	CA8	OMIM:613227
HP:0012759	Neurodevelopmental abnormality	2122	MECOM	OMIM:616738
HP:0012759	Neurodevelopmental abnormality	2592	GALT	ORPHA:79239
HP:0012759	Neurodevelopmental abnormality	4763	NF1	OMIM:162200
HP:0012759	Neurodevelopmental abnormality	27315	PGAP2	OMIM:614207
HP:0012759	Neurodevelopmental abnormality	54974	THG1L	OMIM:618800
HP:0012759	Neurodevelopmental abnormality	291	SLC25A4	OMIM:615418
HP:0012759	Neurodevelopmental abnormality	20	ABCA2	OMIM:618808
HP:0012759	Neurodevelopmental abnormality	23400	ATP13A2	OMIM:606693
HP:0012759	Neurodevelopmental abnormality	51185	CRBN	OMIM:607417
HP:0012759	Neurodevelopmental abnormality	57599	WDR48	ORPHA:401800
HP:0012759	Neurodevelopmental abnormality	5718	PSMD12	ORPHA:529962
HP:0012759	Neurodevelopmental abnormality	2186	BPTF	ORPHA:529962
HP:0012759	Neurodevelopmental abnormality	29980	DONSON	OMIM:617604
HP:0012759	Neurodevelopmental abnormality	158326	FREM1	OMIM:608980
HP:0012759	Neurodevelopmental abnormality	9150	CTDP1	ORPHA:48431
HP:0012759	Neurodevelopmental abnormality	26580	BSCL2	OMIM:269700
HP:0012759	Neurodevelopmental abnormality	4929	NR4A2	OMIM:619911
HP:0012759	Neurodevelopmental abnormality	220296	HEPACAM	OMIM:604004
HP:0012759	Neurodevelopmental abnormality	23209	MLC1	OMIM:604004
HP:0012759	Neurodevelopmental abnormality	54880	BCOR	OMIM:300166
HP:0012759	Neurodevelopmental abnormality	80055	PGAP1	ORPHA:401820
HP:0012759	Neurodevelopmental abnormality	9702	CEP57	OMIM:614114
HP:0012759	Neurodevelopmental abnormality	4780	NFE2L2	OMIM:617744
HP:0012759	Neurodevelopmental abnormality	3295	HSD17B4	OMIM:233400
HP:0012759	Neurodevelopmental abnormality	113246	C12orf57	OMIM:218340
HP:0012759	Neurodevelopmental abnormality	5456	POU3F4	ORPHA:1435
HP:0012759	Neurodevelopmental abnormality	139285	AMER1	OMIM:300373
HP:0012759	Neurodevelopmental abnormality	25782	RAB3GAP2	ORPHA:401830
HP:0012759	Neurodevelopmental abnormality	4841	NONO	ORPHA:466791
HP:0012759	Neurodevelopmental abnormality	57502	NLGN4X	OMIM:300495
HP:0012759	Neurodevelopmental abnormality	210	ALAD	ORPHA:100924
HP:0012759	Neurodevelopmental abnormality	2898	GRIK2	OMIM:611092
HP:0012759	Neurodevelopmental abnormality	4141	MARS1	ORPHA:401835
HP:0012759	Neurodevelopmental abnormality	119559	SFXN4	OMIM:615578
HP:0012759	Neurodevelopmental abnormality	57104	PNPLA2	ORPHA:98908
HP:0012759	Neurodevelopmental abnormality	6469	SHH	OMIM:147250
HP:0012759	Neurodevelopmental abnormality	51684	SUFU	OMIM:617757
HP:0012759	Neurodevelopmental abnormality	51663	ZFR	ORPHA:401840
HP:0012759	Neurodevelopmental abnormality	23309	SIN3B	ORPHA:500166
HP:0012759	Neurodevelopmental abnormality	23404	EXOSC2	OMIM:617763
HP:0012759	Neurodevelopmental abnormality	3832	KIF11	OMIM:152950
HP:0012759	Neurodevelopmental abnormality	23001	WDFY3	OMIM:617520
HP:0012759	Neurodevelopmental abnormality	1806	DPYD	ORPHA:293948
HP:0012759	Neurodevelopmental abnormality	6736	SRY	ORPHA:1772
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	OMIM:615108
HP:0012759	Neurodevelopmental abnormality	207	AKT1	OMIM:615109
HP:0012759	Neurodevelopmental abnormality	7337	UBE3A	ORPHA:411511
HP:0012759	Neurodevelopmental abnormality	58499	ZNF462	OMIM:618619
HP:0012759	Neurodevelopmental abnormality	9990	SLC12A6	OMIM:218000
HP:0012759	Neurodevelopmental abnormality	84520	GON7	OMIM:619603
HP:0012759	Neurodevelopmental abnormality	2671	GFER	OMIM:613076
HP:0012759	Neurodevelopmental abnormality	2671	GFER	ORPHA:330054
HP:0012759	Neurodevelopmental abnormality	55681	SCYL2	OMIM:618766
HP:0012759	Neurodevelopmental abnormality	790955	UQCC3	OMIM:616111
HP:0012759	Neurodevelopmental abnormality	54345	SOX18	OMIM:137940
HP:0012759	Neurodevelopmental abnormality	5034	P4HB	OMIM:112240
HP:0012759	Neurodevelopmental abnormality	5034	P4HB	ORPHA:2050
HP:0012759	Neurodevelopmental abnormality	57169	ZNFX1	OMIM:619644
HP:0012759	Neurodevelopmental abnormality	11311	VPS45	OMIM:615285
HP:0012759	Neurodevelopmental abnormality	476	ATP1A1	OMIM:618314
HP:0012759	Neurodevelopmental abnormality	476	ATP1A1	ORPHA:564178
HP:0012759	Neurodevelopmental abnormality	23483	TGDS	OMIM:616145
HP:0012759	Neurodevelopmental abnormality	6603	SMARCD2	OMIM:617475
HP:0012759	Neurodevelopmental abnormality	4087	SMAD2	OMIM:619657
HP:0012759	Neurodevelopmental abnormality	56945	MRPS22	OMIM:611719
HP:0012759	Neurodevelopmental abnormality	6888	TALDO1	ORPHA:101028
HP:0012759	Neurodevelopmental abnormality	7372	UMPS	ORPHA:30
HP:0012759	Neurodevelopmental abnormality	7372	UMPS	OMIM:258900
HP:0012759	Neurodevelopmental abnormality	3712	IVD	ORPHA:33
HP:0012759	Neurodevelopmental abnormality	3712	IVD	OMIM:243500
HP:0012759	Neurodevelopmental abnormality	84068	SLC10A7	OMIM:618363
HP:0012759	Neurodevelopmental abnormality	51729	WBP11	OMIM:619227
HP:0012759	Neurodevelopmental abnormality	8883	NAE1	OMIM:620210
HP:0012759	Neurodevelopmental abnormality	65260	COA7	OMIM:618387
HP:0012759	Neurodevelopmental abnormality	55640	FLVCR2	OMIM:225790
HP:0012759	Neurodevelopmental abnormality	10273	STUB1	ORPHA:412057
HP:0012759	Neurodevelopmental abnormality	55181	SMG8	OMIM:619268
HP:0012759	Neurodevelopmental abnormality	27445	PCLO	OMIM:608027
HP:0012759	Neurodevelopmental abnormality	26146	TRAF3IP1	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	26146	TRAF3IP1	OMIM:616629
HP:0012759	Neurodevelopmental abnormality	27130	INVS	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	261734	NPHP4	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	57728	WDR19	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	27031	NPHP3	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	22897	CEP164	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	22897	CEP164	OMIM:614845
HP:0012759	Neurodevelopmental abnormality	168667	BMPER	OMIM:608022
HP:0012759	Neurodevelopmental abnormality	2294	FOXF1	OMIM:265380
HP:0012759	Neurodevelopmental abnormality	25821	MTO1	OMIM:614702
HP:0012759	Neurodevelopmental abnormality	6165	RPL35A	OMIM:612528
HP:0012759	Neurodevelopmental abnormality	85300	ATCAY	ORPHA:94122
HP:0012759	Neurodevelopmental abnormality	85300	ATCAY	OMIM:601238
HP:0012759	Neurodevelopmental abnormality	26153	KIF26A	OMIM:620156
HP:0012759	Neurodevelopmental abnormality	1272	CNTN1	OMIM:612540
HP:0012759	Neurodevelopmental abnormality	92579	G6PC3	OMIM:612541
HP:0012759	Neurodevelopmental abnormality	55858	TMEM165	OMIM:614727
HP:0012759	Neurodevelopmental abnormality	63894	VIPAS39	OMIM:613404
HP:0012759	Neurodevelopmental abnormality	1906	EDN1	ORPHA:137888
HP:0012759	Neurodevelopmental abnormality	2773	GNAI3	ORPHA:137888
HP:0012759	Neurodevelopmental abnormality	51660	MPC1	OMIM:614741
HP:0012759	Neurodevelopmental abnormality	80025	PANK2	OMIM:234200
HP:0012759	Neurodevelopmental abnormality	80025	PANK2	ORPHA:216866
HP:0012759	Neurodevelopmental abnormality	55719	SLF2	OMIM:620184
HP:0012759	Neurodevelopmental abnormality	2255	FGF10	ORPHA:2363
HP:0012759	Neurodevelopmental abnormality	415	ARSL	OMIM:302950
HP:0012759	Neurodevelopmental abnormality	415	ARSL	ORPHA:79345
HP:0012759	Neurodevelopmental abnormality	50943	FOXP3	OMIM:304790
HP:0012759	Neurodevelopmental abnormality	10560	SLC19A2	OMIM:249270
HP:0012759	Neurodevelopmental abnormality	121278	TPH2	OMIM:613003
HP:0012759	Neurodevelopmental abnormality	9750	RIPOR2	OMIM:616515
HP:0012759	Neurodevelopmental abnormality	326625	MMAB	OMIM:251110
HP:0012759	Neurodevelopmental abnormality	80152	CENPT	OMIM:618702
HP:0012759	Neurodevelopmental abnormality	57570	TRMT5	OMIM:616539
HP:0012759	Neurodevelopmental abnormality	57647	DHX37	OMIM:618731
HP:0012759	Neurodevelopmental abnormality	7471	WNT1	OMIM:615220
HP:0012759	Neurodevelopmental abnormality	10736	SIX2	ORPHA:488437
HP:0012759	Neurodevelopmental abnormality	6655	SOS2	OMIM:616559
HP:0012759	Neurodevelopmental abnormality	3852	KRT5	ORPHA:79396
HP:0012759	Neurodevelopmental abnormality	3852	KRT5	OMIM:619599
HP:0012759	Neurodevelopmental abnormality	3861	KRT14	ORPHA:79396
HP:0012759	Neurodevelopmental abnormality	4791	NFKB2	ORPHA:293978
HP:0012759	Neurodevelopmental abnormality	4791	NFKB2	OMIM:615577
HP:0012759	Neurodevelopmental abnormality	10617	STAMBP	OMIM:614261
HP:0012759	Neurodevelopmental abnormality	55627	SMPD4	OMIM:618622
HP:0012759	Neurodevelopmental abnormality	5361	PLXNA1	OMIM:619955
HP:0012759	Neurodevelopmental abnormality	6536	SLC6A9	OMIM:617301
HP:0012759	Neurodevelopmental abnormality	3284	HSD3B2	ORPHA:90791
HP:0012759	Neurodevelopmental abnormality	79184	BRCC3	ORPHA:280679
HP:0012759	Neurodevelopmental abnormality	57167	SALL4	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	9935	MAFB	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	1123	CHN1	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	85301	COL27A1	OMIM:615155
HP:0012759	Neurodevelopmental abnormality	166785	MMAA	OMIM:251100
HP:0012759	Neurodevelopmental abnormality	5551	PRF1	OMIM:603553
HP:0012759	Neurodevelopmental abnormality	8676	STX11	OMIM:603552
HP:0012759	Neurodevelopmental abnormality	7385	UQCRC2	OMIM:615160
HP:0012759	Neurodevelopmental abnormality	22	ABCB7	ORPHA:2802
HP:0012759	Neurodevelopmental abnormality	79989	IFT56	OMIM:619534
HP:0012759	Neurodevelopmental abnormality	6897	TARS1	ORPHA:33364
HP:0012759	Neurodevelopmental abnormality	7040	TGFB1	OMIM:618213
HP:0012759	Neurodevelopmental abnormality	133686	NADK2	OMIM:616034
HP:0012759	Neurodevelopmental abnormality	133686	NADK2	ORPHA:431361
HP:0012759	Neurodevelopmental abnormality	6514	SLC2A2	OMIM:227810
HP:0012759	Neurodevelopmental abnormality	126328	NDUFA11	OMIM:618236
HP:0012759	Neurodevelopmental abnormality	126328	NDUFA11	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4709	NDUFB3	OMIM:618246
HP:0012759	Neurodevelopmental abnormality	4709	NDUFB3	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	80224	NUBPL	OMIM:618242
HP:0012759	Neurodevelopmental abnormality	80224	NUBPL	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	51300	TIMMDC1	OMIM:618251
HP:0012759	Neurodevelopmental abnormality	51300	TIMMDC1	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4700	NDUFA6	OMIM:618253
HP:0012759	Neurodevelopmental abnormality	4700	NDUFA6	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	23384	SPECC1L	OMIM:145420
HP:0012759	Neurodevelopmental abnormality	2683	B4GALT1	OMIM:607091
HP:0012759	Neurodevelopmental abnormality	51095	TRNT1	OMIM:616084
HP:0012759	Neurodevelopmental abnormality	23405	DICER1	OMIM:618272
HP:0012759	Neurodevelopmental abnormality	90416	CCDC32	OMIM:619123
HP:0012759	Neurodevelopmental abnormality	1719	DHFR	OMIM:613839
HP:0012759	Neurodevelopmental abnormality	54938	SARS2	OMIM:613845
HP:0012759	Neurodevelopmental abnormality	83700	JAM3	OMIM:613730
HP:0012759	Neurodevelopmental abnormality	95	ACY1	ORPHA:137754
HP:0012759	Neurodevelopmental abnormality	95	ACY1	OMIM:609924
HP:0012759	Neurodevelopmental abnormality	57176	VARS2	OMIM:615917
HP:0012759	Neurodevelopmental abnormality	80222	TARS2	OMIM:615918
HP:0012759	Neurodevelopmental abnormality	3141	HLCS	OMIM:253270
HP:0012759	Neurodevelopmental abnormality	55163	PNPO	ORPHA:79096
HP:0012759	Neurodevelopmental abnormality	55163	PNPO	OMIM:610090
HP:0012759	Neurodevelopmental abnormality	28958	COA3	OMIM:619058
HP:0012759	Neurodevelopmental abnormality	1351	COX8A	OMIM:619059
HP:0012759	Neurodevelopmental abnormality	6575	SLC20A2	OMIM:213600
HP:0012759	Neurodevelopmental abnormality	5155	PDGFB	OMIM:213600
HP:0012759	Neurodevelopmental abnormality	23265	EXOC7	OMIM:619072
HP:0012759	Neurodevelopmental abnormality	9719	ADAMTSL2	OMIM:231050
HP:0012759	Neurodevelopmental abnormality	10236	HNRNPR	OMIM:620073
HP:0012759	Neurodevelopmental abnormality	25828	TXN2	OMIM:616811
HP:0012759	Neurodevelopmental abnormality	9080	CLDN9	OMIM:619093
HP:0012759	Neurodevelopmental abnormality	147007	TMEM199	OMIM:616829
HP:0012759	Neurodevelopmental abnormality	84317	CCDC115	OMIM:616828
HP:0012759	Neurodevelopmental abnormality	57017	COQ9	OMIM:614654
HP:0012759	Neurodevelopmental abnormality	51025	PAM16	OMIM:613320
HP:0012759	Neurodevelopmental abnormality	80199	FUZ	ORPHA:1136
HP:0012759	Neurodevelopmental abnormality	1828	DSG1	OMIM:615508
HP:0012759	Neurodevelopmental abnormality	865	CBFB	OMIM:620099
HP:0012759	Neurodevelopmental abnormality	1738	DLD	OMIM:246900
HP:0012759	Neurodevelopmental abnormality	9780	PIEZO1	OMIM:616843
HP:0012759	Neurodevelopmental abnormality	7167	TPI1	OMIM:615512
HP:0012759	Neurodevelopmental abnormality	3313	HSPA9	OMIM:616854
HP:0012759	Neurodevelopmental abnormality	51008	ASCC1	OMIM:616867
HP:0012759	Neurodevelopmental abnormality	29929	ALG6	OMIM:603147
HP:0012759	Neurodevelopmental abnormality	26235	FBXL4	OMIM:615471
HP:0012759	Neurodevelopmental abnormality	5105	PCK1	OMIM:261680
HP:0012759	Neurodevelopmental abnormality	1020	CDK5	OMIM:616342
HP:0012759	Neurodevelopmental abnormality	26258	BLOC1S6	OMIM:614171
HP:0012759	Neurodevelopmental abnormality	788	SLC25A20	ORPHA:159
HP:0012759	Neurodevelopmental abnormality	4285	MIPEP	OMIM:617228
HP:0012759	Neurodevelopmental abnormality	29960	MRM2	OMIM:618567
HP:0012759	Neurodevelopmental abnormality	205327	C2orf69	OMIM:619423
HP:0012759	Neurodevelopmental abnormality	9488	PIGB	OMIM:618580
HP:0012759	Neurodevelopmental abnormality	6809	STX3	OMIM:619446
HP:0012759	Neurodevelopmental abnormality	6809	STX3	ORPHA:2290
HP:0012759	Neurodevelopmental abnormality	56975	FAM20C	OMIM:259775
HP:0012759	Neurodevelopmental abnormality	283446	MYO1H	OMIM:619482
HP:0012759	Neurodevelopmental abnormality	2998	GYS2	ORPHA:2089
HP:0012759	Neurodevelopmental abnormality	3988	LIPA	ORPHA:75233
HP:0012759	Neurodevelopmental abnormality	63899	NSUN3	OMIM:619012
HP:0012759	Neurodevelopmental abnormality	2193	FARSA	OMIM:619013
HP:0012759	Neurodevelopmental abnormality	727676	SNORD118	ORPHA:542310
HP:0012759	Neurodevelopmental abnormality	727676	SNORD118	OMIM:614561
HP:0012759	Neurodevelopmental abnormality	26276	VPS33B	OMIM:620009
HP:0012759	Neurodevelopmental abnormality	26276	VPS33B	OMIM:208085
HP:0012759	Neurodevelopmental abnormality	3110	MNX1	OMIM:176450
HP:0012759	Neurodevelopmental abnormality	80217	CFAP43	OMIM:236690
HP:0012759	Neurodevelopmental abnormality	84274	COQ5	OMIM:619028
HP:0012759	Neurodevelopmental abnormality	84876	ORAI1	OMIM:612782
HP:0012759	Neurodevelopmental abnormality	5624	PROC	OMIM:612304
HP:0012759	Neurodevelopmental abnormality	11232	POLG2	OMIM:610131
HP:0012759	Neurodevelopmental abnormality	84300	UQCC2	OMIM:615824
HP:0012759	Neurodevelopmental abnormality	6234	RPS28	OMIM:606164
HP:0012759	Neurodevelopmental abnormality	3418	IDH2	OMIM:613657
HP:0012759	Neurodevelopmental abnormality	9440	MED17	OMIM:613668
HP:0012759	Neurodevelopmental abnormality	137814	NKX2-6	OMIM:217095
HP:0012759	Neurodevelopmental abnormality	11151	CORO1A	OMIM:615401
HP:0012759	Neurodevelopmental abnormality	3796	KIF2A	OMIM:615411
HP:0012759	Neurodevelopmental abnormality	79576	NKAP	OMIM:301039
HP:0012759	Neurodevelopmental abnormality	8985	PLOD3	OMIM:612394
HP:0012759	Neurodevelopmental abnormality	25	ABL1	OMIM:617602
HP:0012759	Neurodevelopmental abnormality	11222	MRPL3	OMIM:614582
HP:0012759	Neurodevelopmental abnormality	51520	LARS1	OMIM:615438
HP:0012759	Neurodevelopmental abnormality	4329	ALDH6A1	OMIM:614105
HP:0012759	Neurodevelopmental abnormality	55617	TASP1	OMIM:618950
HP:0012759	Neurodevelopmental abnormality	5162	PDHB	OMIM:614111
HP:0012759	Neurodevelopmental abnormality	60528	ELAC2	OMIM:615440
HP:0012759	Neurodevelopmental abnormality	10319	LAMC3	OMIM:614115
HP:0012759	Neurodevelopmental abnormality	4190	MDH1	OMIM:618959
HP:0012759	Neurodevelopmental abnormality	115286	SLC25A26	OMIM:616794
HP:0012759	Neurodevelopmental abnormality	4716	NDUFB10	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	284184	NDUFAF8	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	55863	TMEM126B	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4726	NDUFS6	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	29078	NDUFAF4	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4715	NDUFB9	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	3021	H3-3B	OMIM:619721
HP:0012759	Neurodevelopmental abnormality	3162	HMOX1	OMIM:614034
HP:0012759	Neurodevelopmental abnormality	10026	PIGK	OMIM:618879
HP:0012759	Neurodevelopmental abnormality	4056	LTC4S	OMIM:614037
HP:0012759	Neurodevelopmental abnormality	79639	TMEM53	OMIM:619727
HP:0012759	Neurodevelopmental abnormality	375387	NRROS	OMIM:618875
HP:0012759	Neurodevelopmental abnormality	6440	SFTPC	OMIM:610913
HP:0012759	Neurodevelopmental abnormality	64175	P3H1	OMIM:610915
HP:0012759	Neurodevelopmental abnormality	130589	GALM	OMIM:618881
HP:0012759	Neurodevelopmental abnormality	6773	STAT2	OMIM:618886
HP:0012759	Neurodevelopmental abnormality	39	ACAT2	OMIM:614055
HP:0012759	Neurodevelopmental abnormality	7531	YWHAE	ORPHA:217385
HP:0012759	Neurodevelopmental abnormality	79803	HPS6	OMIM:614075
HP:0012759	Neurodevelopmental abnormality	10195	ALG3	ORPHA:79321
HP:0012759	Neurodevelopmental abnormality	10195	ALG3	OMIM:601110
HP:0012759	Neurodevelopmental abnormality	79053	ALG8	ORPHA:79325
HP:0012759	Neurodevelopmental abnormality	51013	EXOSC1	OMIM:619304
HP:0012759	Neurodevelopmental abnormality	6650	CAPN15	OMIM:619318
HP:0012759	Neurodevelopmental abnormality	10102	TSFM	OMIM:610505
HP:0012759	Neurodevelopmental abnormality	29968	PSAT1	OMIM:610992
HP:0012759	Neurodevelopmental abnormality	84701	COX4I2	OMIM:612714
HP:0012759	Neurodevelopmental abnormality	28962	OSTM1	ORPHA:85179
HP:0012759	Neurodevelopmental abnormality	539	ATP5PO	OMIM:620359
HP:0012759	Neurodevelopmental abnormality	2811	GP1BA	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3674	ITGA2B	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3673	ITGA2	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	135228	CD109	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3690	ITGB3	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	55898	UNC45A	OMIM:619377
HP:0012759	Neurodevelopmental abnormality	129285	PPP1R21	OMIM:619383
HP:0012759	Neurodevelopmental abnormality	6584	SLC22A5	OMIM:212140
HP:0012759	Neurodevelopmental abnormality	81555	YIPF5	OMIM:619278
HP:0012759	Neurodevelopmental abnormality	4645	MYO5B	ORPHA:2290
HP:0012759	Neurodevelopmental abnormality	7841	MOGS	OMIM:606056
HP:0012759	Neurodevelopmental abnormality	4338	MOCS2	OMIM:252160
HP:0012759	Neurodevelopmental abnormality	5826	ABCD4	OMIM:614857
HP:0012759	Neurodevelopmental abnormality	162417	NAGS	ORPHA:927
HP:0012759	Neurodevelopmental abnormality	10165	SLC25A13	ORPHA:247585
HP:0012759	Neurodevelopmental abnormality	11023	VAX1	OMIM:614402
HP:0012759	Neurodevelopmental abnormality	763	CA5A	OMIM:615751
HP:0012759	Neurodevelopmental abnormality	1644	DDC	OMIM:608643
HP:0012759	Neurodevelopmental abnormality	4659	PPP1R12A	OMIM:618820
HP:0012759	Neurodevelopmental abnormality	3704	ITPA	OMIM:616647
HP:0012759	Neurodevelopmental abnormality	22934	RPIA	OMIM:608611
HP:0012759	Neurodevelopmental abnormality	22871	NLGN1	OMIM:618830
HP:0012759	Neurodevelopmental abnormality	1284	COL4A2	OMIM:614483
HP:0012759	Neurodevelopmental abnormality	18	ABAT	OMIM:613163
HP:0012759	Neurodevelopmental abnormality	80169	CTC1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	79650	USB1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	55135	WRAP53	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	4869	NPM1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	7298	TYMS	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	55753	OGDHL	OMIM:619701
HP:0012759	Neurodevelopmental abnormality	2137	EXTL3	ORPHA:508533
HP:0012759	Neurodevelopmental abnormality	2137	EXTL3	OMIM:617425
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	OMIM:608931
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	OMIM:610542
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	ORPHA:353327
HP:0012759	Neurodevelopmental abnormality	1145	CHRNE	OMIM:608931
HP:0012759	Neurodevelopmental abnormality	8367	H4C5	OMIM:619950
HP:0012759	Neurodevelopmental abnormality	104	ADARB1	OMIM:618862
HP:0012759	Neurodevelopmental abnormality	91452	ACBD5	OMIM:618863
HP:0012759	Neurodevelopmental abnormality	9853	RUSC2	OMIM:617773
HP:0012759	Neurodevelopmental abnormality	4750	NEK1	OMIM:263520
HP:0012759	Neurodevelopmental abnormality	54101	RIPK4	ORPHA:1401
HP:0012759	Neurodevelopmental abnormality	23135	KDM6B	OMIM:618505
HP:0012759	Neurodevelopmental abnormality	22880	MORC2	OMIM:616688
HP:0012759	Neurodevelopmental abnormality	1024	CDK8	OMIM:618748
HP:0012759	Neurodevelopmental abnormality	10054	UBA2	OMIM:619959
HP:0012759	Neurodevelopmental abnormality	1144	CHRND	OMIM:616323
HP:0012759	Neurodevelopmental abnormality	4919	ROR1	OMIM:617654
HP:0012759	Neurodevelopmental abnormality	10059	DNM1L	OMIM:614388
HP:0012759	Neurodevelopmental abnormality	4860	PNP	OMIM:613179
HP:0012759	Neurodevelopmental abnormality	6228	RPS23	OMIM:617412
HP:0012759	Neurodevelopmental abnormality	4897	NRCAM	OMIM:619833
HP:0012759	Neurodevelopmental abnormality	22800	RRAS2	OMIM:618624
HP:0012759	Neurodevelopmental abnormality	84334	COA8	ORPHA:436271
HP:0012759	Neurodevelopmental abnormality	3703	STT3A	OMIM:619714
HP:0012759	Neurodevelopmental abnormality	1134	CHRNA1	OMIM:608930
HP:0012759	Neurodevelopmental abnormality	10159	ATP6AP2	ORPHA:93952
HP:0012759	Neurodevelopmental abnormality	10159	ATP6AP2	OMIM:300423
HP:0012759	Neurodevelopmental abnormality	5339	PLEC	ORPHA:254361
HP:0012759	Neurodevelopmental abnormality	5339	PLEC	OMIM:613723
HP:0012759	Neurodevelopmental abnormality	57165	GJC2	OMIM:608804
HP:0012759	Neurodevelopmental abnormality	116931	MED12L	OMIM:618872
HP:0012759	Neurodevelopmental abnormality	10300	KATNB1	OMIM:616212
HP:0012759	Neurodevelopmental abnormality	55790	CSGALNACT1	OMIM:618870
HP:0012759	Neurodevelopmental abnormality	283489	CHAMP1	OMIM:616579
HP:0012759	Neurodevelopmental abnormality	27245	AHDC1	ORPHA:412069
HP:0012759	Neurodevelopmental abnormality	80155	NAA15	OMIM:617787
HP:0012759	Neurodevelopmental abnormality	65082	VPS33A	OMIM:617303
HP:0012759	Neurodevelopmental abnormality	84466	MEGF10	OMIM:614399
HP:0012759	Neurodevelopmental abnormality	10730	YME1L1	OMIM:617302
HP:0012759	Neurodevelopmental abnormality	2201	FBN2	OMIM:121050
HP:0012759	Neurodevelopmental abnormality	128486	FITM2	OMIM:618635
HP:0012759	Neurodevelopmental abnormality	9200	HACD1	OMIM:619967
HP:0012759	Neurodevelopmental abnormality	9200	HACD1	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	3781	KCNN2	OMIM:619725
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2	ORPHA:258
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2	OMIM:618138
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2	OMIM:607855
HP:0012759	Neurodevelopmental abnormality	6660	SOX5	ORPHA:313892
HP:0012759	Neurodevelopmental abnormality	8575	PRKRA	ORPHA:210571
HP:0012759	Neurodevelopmental abnormality	8575	PRKRA	OMIM:612067
HP:0012759	Neurodevelopmental abnormality	64834	ELOVL1	OMIM:618527
HP:0012759	Neurodevelopmental abnormality	1777	DNASE2	OMIM:619858
HP:0012759	Neurodevelopmental abnormality	51319	RSRC1	OMIM:618402
HP:0012759	Neurodevelopmental abnormality	55699	IARS2	ORPHA:436174
HP:0012759	Neurodevelopmental abnormality	55699	IARS2	OMIM:616007
HP:0012759	Neurodevelopmental abnormality	85365	ALG2	OMIM:616228
HP:0012759	Neurodevelopmental abnormality	85365	ALG2	OMIM:607906
HP:0012759	Neurodevelopmental abnormality	85365	ALG2	ORPHA:353327
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:101097
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	OMIM:214400
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:99948
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:99944
HP:0012759	Neurodevelopmental abnormality	157680	VPS13B	OMIM:216550
HP:0012759	Neurodevelopmental abnormality	1277	COL1A1	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	1289	COL5A1	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	1290	COL5A2	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	55149	MTPAP	ORPHA:254343
HP:0012759	Neurodevelopmental abnormality	84504	NKX6-2	OMIM:617560
HP:0012759	Neurodevelopmental abnormality	283987	HID1	OMIM:619983
HP:0012759	Neurodevelopmental abnormality	4330	MN1	OMIM:618774
HP:0012759	Neurodevelopmental abnormality	1594	CYP27B1	OMIM:264700
HP:0012759	Neurodevelopmental abnormality	1594	CYP27B1	ORPHA:289157
HP:0012759	Neurodevelopmental abnormality	7386	UQCRFS1	OMIM:618775
HP:0012759	Neurodevelopmental abnormality	84314	TMEM107	OMIM:617563
HP:0012759	Neurodevelopmental abnormality	57178	ZMIZ1	OMIM:618659
HP:0012759	Neurodevelopmental abnormality	4632	MYL1	OMIM:618414
HP:0012759	Neurodevelopmental abnormality	26057	ANKRD17	OMIM:619504
HP:0012759	Neurodevelopmental abnormality	284439	SLC25A42	OMIM:618416
HP:0012759	Neurodevelopmental abnormality	492	ATP2B3	ORPHA:314978
HP:0012759	Neurodevelopmental abnormality	492	ATP2B3	OMIM:302500
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	ORPHA:101085
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	ORPHA:99939
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	OMIM:607684
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	OMIM:607734
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	OMIM:617882
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	ORPHA:101082
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:618184
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:180800
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	26154	ABCA12	OMIM:242500
HP:0012759	Neurodevelopmental abnormality	11285	B4GALT7	OMIM:130070
HP:0012759	Neurodevelopmental abnormality	1187	CLCNKA	OMIM:613090
HP:0012759	Neurodevelopmental abnormality	1187	CLCNKA	ORPHA:89938
HP:0012759	Neurodevelopmental abnormality	1188	CLCNKB	OMIM:613090
HP:0012759	Neurodevelopmental abnormality	1188	CLCNKB	ORPHA:89938
HP:0012759	Neurodevelopmental abnormality	113612	CYP2U1	OMIM:615030
HP:0012759	Neurodevelopmental abnormality	3572	IL6ST	OMIM:619751
HP:0012759	Neurodevelopmental abnormality	26038	CHD5	OMIM:619873
HP:0012759	Neurodevelopmental abnormality	2911	GRM1	OMIM:617691
HP:0012759	Neurodevelopmental abnormality	8260	NAA10	OMIM:309800
HP:0012759	Neurodevelopmental abnormality	55621	TRMT1	OMIM:618302
HP:0012759	Neurodevelopmental abnormality	57680	CHD8	OMIM:615032
HP:0012759	Neurodevelopmental abnormality	120227	CYP2R1	ORPHA:289157
HP:0012759	Neurodevelopmental abnormality	9453	GGPS1	OMIM:619518
HP:0012759	Neurodevelopmental abnormality	9841	ZBTB24	OMIM:614069
HP:0012759	Neurodevelopmental abnormality	51692	CPSF3	OMIM:619876
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	OMIM:161800
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	ORPHA:101070
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	OMIM:615752
HP:0012759	Neurodevelopmental abnormality	8898	MTMR2	OMIM:601382
HP:0012759	Neurodevelopmental abnormality	8314	BAP1	OMIM:619762
HP:0012759	Neurodevelopmental abnormality	253959	RALGAPA1	OMIM:618797
HP:0012759	Neurodevelopmental abnormality	6329	SCN4A	OMIM:614198
HP:0012759	Neurodevelopmental abnormality	51098	IFT52	OMIM:617102
HP:0012759	Neurodevelopmental abnormality	59336	PRDM13	OMIM:619761
HP:0012759	Neurodevelopmental abnormality	59336	PRDM13	OMIM:619909
HP:0012759	Neurodevelopmental abnormality	56947	MFF	ORPHA:485421
HP:0012759	Neurodevelopmental abnormality	56947	MFF	OMIM:617086
HP:0012759	Neurodevelopmental abnormality	9772	TMEM94	OMIM:618316
HP:0012759	Neurodevelopmental abnormality	2558	GABRA5	OMIM:618559
HP:0012759	Neurodevelopmental abnormality	51341	ZBTB7A	OMIM:619769
HP:0012759	Neurodevelopmental abnormality	6901	TAFAZZIN	OMIM:302060
HP:0012759	Neurodevelopmental abnormality	124583	CANT1	OMIM:251450
HP:0012759	Neurodevelopmental abnormality	487	ATP2A1	OMIM:601003
HP:0012759	Neurodevelopmental abnormality	57724	EPG5	OMIM:242840
HP:0012759	Neurodevelopmental abnormality	23299	BICD2	OMIM:615290
HP:0012759	Neurodevelopmental abnormality	23299	BICD2	OMIM:618291
HP:0012759	Neurodevelopmental abnormality	23299	BICD2	ORPHA:363454
HP:0012759	Neurodevelopmental abnormality	7143	TNR	OMIM:619653
HP:0012759	Neurodevelopmental abnormality	3978	LIG1	OMIM:619774
HP:0012759	Neurodevelopmental abnormality	6843	VAMP1	OMIM:618323
HP:0012759	Neurodevelopmental abnormality	6843	VAMP1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	4123	MAN2C1	OMIM:619775
HP:0012759	Neurodevelopmental abnormality	54941	RNF125	OMIM:616260
HP:0012759	Neurodevelopmental abnormality	9922	IQSEC1	OMIM:618687
HP:0012759	Neurodevelopmental abnormality	259232	NALCN	OMIM:616266
HP:0012759	Neurodevelopmental abnormality	259232	NALCN	ORPHA:371364
HP:0012759	Neurodevelopmental abnormality	57479	PRR12	OMIM:619539
HP:0012759	Neurodevelopmental abnormality	84168	ANTXR1	OMIM:230740
HP:0012759	Neurodevelopmental abnormality	2006	ELN	ORPHA:90348
HP:0012759	Neurodevelopmental abnormality	10516	FBLN5	ORPHA:90348
HP:0012759	Neurodevelopmental abnormality	10516	FBLN5	ORPHA:90349
HP:0012759	Neurodevelopmental abnormality	4052	LTBP1	ORPHA:90349
HP:0012759	Neurodevelopmental abnormality	30008	EFEMP2	ORPHA:90349
HP:0012759	Neurodevelopmental abnormality	374969	SVBP	OMIM:618569
HP:0012759	Neurodevelopmental abnormality	5836	PYGL	ORPHA:369
HP:0012759	Neurodevelopmental abnormality	79628	SH3TC2	OMIM:601596
HP:0012759	Neurodevelopmental abnormality	57505	AARS2	OMIM:614096
HP:0012759	Neurodevelopmental abnormality	51645	PPIL1	OMIM:619301
HP:0012759	Neurodevelopmental abnormality	8621	CDK13	OMIM:617360
HP:0012759	Neurodevelopmental abnormality	1523	CUX1	OMIM:618330
HP:0012759	Neurodevelopmental abnormality	55151	TMEM38B	OMIM:615066
HP:0012759	Neurodevelopmental abnormality	93587	TRMT10A	OMIM:616033
HP:0012759	Neurodevelopmental abnormality	5081	PAX7	OMIM:618578
HP:0012759	Neurodevelopmental abnormality	389827	MYMK	OMIM:254940
HP:0012759	Neurodevelopmental abnormality	59341	TRPV4	OMIM:181405
HP:0012759	Neurodevelopmental abnormality	5813	PURA	ORPHA:314655
HP:0012759	Neurodevelopmental abnormality	3480	IGF1R	ORPHA:73273
HP:0012759	Neurodevelopmental abnormality	3480	IGF1R	OMIM:270450
HP:0012759	Neurodevelopmental abnormality	4921	DDR2	OMIM:271665
HP:0012759	Neurodevelopmental abnormality	3912	LAMB1	OMIM:615191
HP:0012759	Neurodevelopmental abnormality	4558	MT-TF	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4572	MT-TQ	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4512	MT-CO1	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4513	MT-CO2	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4514	MT-CO3	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4578	MT-TW	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4540	MT-ND5	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4541	MT-ND6	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4535	MT-ND1	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4538	MT-ND4	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4575	MT-TS2	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4564	MT-TH	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	1281	COL3A1	OMIM:618343
HP:0012759	Neurodevelopmental abnormality	23013	SPEN	OMIM:619312
HP:0012759	Neurodevelopmental abnormality	1291	COL6A1	OMIM:254090
HP:0012759	Neurodevelopmental abnormality	1291	COL6A1	OMIM:158810
HP:0012759	Neurodevelopmental abnormality	1292	COL6A2	OMIM:254090
HP:0012759	Neurodevelopmental abnormality	1292	COL6A2	OMIM:158810
HP:0012759	Neurodevelopmental abnormality	1293	COL6A3	OMIM:254090
HP:0012759	Neurodevelopmental abnormality	1293	COL6A3	OMIM:158810
HP:0012759	Neurodevelopmental abnormality	84894	LINGO1	OMIM:618103
HP:0012759	Neurodevelopmental abnormality	6477	SIAH1	OMIM:619314
HP:0012759	Neurodevelopmental abnormality	127833	SYT2	OMIM:616040
HP:0012759	Neurodevelopmental abnormality	127833	SYT2	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	23345	SYNE1	ORPHA:88644
HP:0012759	Neurodevelopmental abnormality	23345	SYNE1	ORPHA:319332
HP:0012759	Neurodevelopmental abnormality	54517	PUS7	OMIM:618342
HP:0012759	Neurodevelopmental abnormality	85476	GFM1	OMIM:609060
HP:0012759	Neurodevelopmental abnormality	10785	WDR4	OMIM:618347
HP:0012759	Neurodevelopmental abnormality	4967	OGDH	OMIM:203740
HP:0012759	Neurodevelopmental abnormality	4720	NDUFS2	OMIM:618228
HP:0012759	Neurodevelopmental abnormality	203547	VMA21	OMIM:310440
HP:0012759	Neurodevelopmental abnormality	4703	NEB	OMIM:256030
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	7253	TSHR	ORPHA:424
HP:0012759	Neurodevelopmental abnormality	7253	TSHR	OMIM:609152
HP:0012759	Neurodevelopmental abnormality	7253	TSHR	ORPHA:99819
HP:0012759	Neurodevelopmental abnormality	7681	MKRN3	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	3653	IPW	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	791114	PWRN1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	100033413	SNORD116-1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	8924	HERC2	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	145624	PWAR1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	23742	NPAP1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	338433	SNORD115-1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	3785	KCNQ2	OMIM:121200
HP:0012759	Neurodevelopmental abnormality	5745	PTH1R	OMIM:600002
HP:0012759	Neurodevelopmental abnormality	1120	CHKB	OMIM:602541
HP:0012759	Neurodevelopmental abnormality	6548	SLC9A1	OMIM:616291
HP:0012759	Neurodevelopmental abnormality	2581	GALC	ORPHA:206443
HP:0012759	Neurodevelopmental abnormality	10397	NDRG1	OMIM:601455
HP:0012759	Neurodevelopmental abnormality	10397	NDRG1	ORPHA:99950
HP:0012759	Neurodevelopmental abnormality	60482	SLC5A7	OMIM:617143
HP:0012759	Neurodevelopmental abnormality	60482	SLC5A7	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	26275	HIBCH	ORPHA:88639
HP:0012759	Neurodevelopmental abnormality	26275	HIBCH	OMIM:250620
HP:0012759	Neurodevelopmental abnormality	81790	RNF170	OMIM:619686
HP:0012759	Neurodevelopmental abnormality	55182	RNF220	OMIM:619688
HP:0012759	Neurodevelopmental abnormality	443	ASPA	ORPHA:314918
HP:0012759	Neurodevelopmental abnormality	443	ASPA	ORPHA:314911
HP:0012759	Neurodevelopmental abnormality	6492	SIM1	ORPHA:398079
HP:0012759	Neurodevelopmental abnormality	1363	CPE	OMIM:619326
HP:0012759	Neurodevelopmental abnormality	7846	TUBA1A	OMIM:611603
HP:0012759	Neurodevelopmental abnormality	3767	KCNJ11	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	6774	STAT3	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	2645	GCK	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	3651	PDX1	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	6833	ABCC8	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	6833	ABCC8	OMIM:618857
HP:0012759	Neurodevelopmental abnormality	3630	INS	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	10166	SLC25A15	OMIM:238970
HP:0012759	Neurodevelopmental abnormality	3417	IDH1	ORPHA:99646
HP:0012759	Neurodevelopmental abnormality	79158	GNPTAB	ORPHA:576
HP:0012759	Neurodevelopmental abnormality	57190	SELENON	OMIM:602771
HP:0012759	Neurodevelopmental abnormality	57190	SELENON	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	55777	MBD5	OMIM:156200
HP:0012759	Neurodevelopmental abnormality	1741	DLG3	OMIM:300850
HP:0012759	Neurodevelopmental abnormality	5980	REV3L	ORPHA:570
HP:0012759	Neurodevelopmental abnormality	23129	PLXND1	ORPHA:570
HP:0012759	Neurodevelopmental abnormality	55967	NDUFA12	OMIM:618244
HP:0012759	Neurodevelopmental abnormality	57551	TAOK1	OMIM:619575
HP:0012759	Neurodevelopmental abnormality	25929	GEMIN5	OMIM:619333
HP:0012759	Neurodevelopmental abnormality	7084	TK2	ORPHA:254875
HP:0012759	Neurodevelopmental abnormality	4621	MYH3	OMIM:193700
HP:0012759	Neurodevelopmental abnormality	9469	CHST3	ORPHA:263463
HP:0012759	Neurodevelopmental abnormality	9469	CHST3	OMIM:245600
HP:0012759	Neurodevelopmental abnormality	51434	ANAPC7	OMIM:619699
HP:0012759	Neurodevelopmental abnormality	4128	MAOA	OMIM:300615
HP:0012759	Neurodevelopmental abnormality	92255	LMBRD2	OMIM:619694
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	OMIM:609284
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171881
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	7169	TPM2	OMIM:609285
HP:0012759	Neurodevelopmental abnormality	7169	TPM2	ORPHA:171881
HP:0012759	Neurodevelopmental abnormality	7169	TPM2	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	7169	TPM2	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	1280	COL2A1	ORPHA:94068
HP:0012759	Neurodevelopmental abnormality	1280	COL2A1	OMIM:156550
HP:0012759	Neurodevelopmental abnormality	4647	MYO7A	OMIM:276900
HP:0012759	Neurodevelopmental abnormality	10083	USH1C	OMIM:276900
HP:0012759	Neurodevelopmental abnormality	3913	LAMB2	OMIM:609049
HP:0012759	Neurodevelopmental abnormality	549	AUH	OMIM:250950
HP:0012759	Neurodevelopmental abnormality	55750	AGK	OMIM:212350
HP:0012759	Neurodevelopmental abnormality	5805	PTS	ORPHA:13
HP:0012759	Neurodevelopmental abnormality	1781	DYNC1I2	OMIM:618492
HP:0012759	Neurodevelopmental abnormality	112812	FDX2	OMIM:251900
HP:0012759	Neurodevelopmental abnormality	7809	BSND	OMIM:602522
HP:0012759	Neurodevelopmental abnormality	7809	BSND	ORPHA:89938
HP:0012759	Neurodevelopmental abnormality	9509	ADAMTS2	OMIM:225410
HP:0012759	Neurodevelopmental abnormality	84892	POMGNT2	OMIM:618135
HP:0012759	Neurodevelopmental abnormality	372	ARCN1	OMIM:617164
HP:0012759	Neurodevelopmental abnormality	23522	KAT6B	OMIM:603736
HP:0012759	Neurodevelopmental abnormality	80173	IFT74	OMIM:619582
HP:0012759	Neurodevelopmental abnormality	2705	GJB1	OMIM:302800
HP:0012759	Neurodevelopmental abnormality	2705	GJB1	ORPHA:1175
HP:0012759	Neurodevelopmental abnormality	6304	SATB1	OMIM:619228
HP:0012759	Neurodevelopmental abnormality	6304	SATB1	OMIM:619229
HP:0012759	Neurodevelopmental abnormality	79644	SRD5A3	OMIM:612713
HP:0012759	Neurodevelopmental abnormality	79644	SRD5A3	OMIM:612379
HP:0012759	Neurodevelopmental abnormality	23594	ORC6	OMIM:613803
HP:0012759	Neurodevelopmental abnormality	8425	LTBP4	ORPHA:98896
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	OMIM:109400
HP:0012759	Neurodevelopmental abnormality	84065	TMEM222	OMIM:619470
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	OMIM:617171
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	OMIM:615828
HP:0012759	Neurodevelopmental abnormality	11212	PLPBP	OMIM:617290
HP:0012759	Neurodevelopmental abnormality	84265	POLR3GL	OMIM:619234
HP:0012759	Neurodevelopmental abnormality	54809	SAMD9	OMIM:617053
HP:0012759	Neurodevelopmental abnormality	10526	IPO8	OMIM:619472
HP:0012759	Neurodevelopmental abnormality	10846	PDE10A	ORPHA:494526
HP:0012759	Neurodevelopmental abnormality	10846	PDE10A	OMIM:616921
HP:0012759	Neurodevelopmental abnormality	3839	KPNA3	OMIM:620106
HP:0012759	Neurodevelopmental abnormality	3032	HADHB	ORPHA:746
HP:0012759	Neurodevelopmental abnormality	3030	HADHA	ORPHA:746
HP:0012759	Neurodevelopmental abnormality	4534	MTM1	OMIM:310400
HP:0012759	Neurodevelopmental abnormality	2887	GRB10	ORPHA:96182
HP:0012759	Neurodevelopmental abnormality	25839	COG4	OMIM:618150
HP:0012759	Neurodevelopmental abnormality	113189	CHST14	OMIM:601776
HP:0012759	Neurodevelopmental abnormality	51360	MBTPS2	OMIM:308205
HP:0012759	Neurodevelopmental abnormality	10681	GNB5	OMIM:617182
HP:0012759	Neurodevelopmental abnormality	3636	INPPL1	OMIM:258480
HP:0012759	Neurodevelopmental abnormality	22978	NT5C2	ORPHA:320396
HP:0012759	Neurodevelopmental abnormality	22978	NT5C2	OMIM:613162
HP:0012759	Neurodevelopmental abnormality	9325	TRIP4	OMIM:617066
HP:0012759	Neurodevelopmental abnormality	9325	TRIP4	ORPHA:486815
HP:0012759	Neurodevelopmental abnormality	203068	TUBB	OMIM:156610
HP:0012759	Neurodevelopmental abnormality	285590	SH3PXD2B	OMIM:249420
HP:0012759	Neurodevelopmental abnormality	8567	MADD	OMIM:619004
HP:0012759	Neurodevelopmental abnormality	8567	MADD	OMIM:619005
HP:0012759	Neurodevelopmental abnormality	374354	NHLRC2	OMIM:618278
HP:0012759	Neurodevelopmental abnormality	23287	AGTPBP1	OMIM:618276
HP:0012759	Neurodevelopmental abnormality	23287	AGTPBP1	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	3557	IL1RN	OMIM:612852
HP:0012759	Neurodevelopmental abnormality	50485	SMARCAL1	OMIM:242900
HP:0012759	Neurodevelopmental abnormality	118924	FRA10AC1	OMIM:620113
HP:0012759	Neurodevelopmental abnormality	4322	MMP13	OMIM:250400
HP:0012759	Neurodevelopmental abnormality	10551	AGR2	OMIM:620233
HP:0012759	Neurodevelopmental abnormality	9759	HDAC4	OMIM:600430
HP:0012759	Neurodevelopmental abnormality	745	MYRF	OMIM:618280
HP:0012759	Neurodevelopmental abnormality	2629	GBA1	ORPHA:2072
HP:0012759	Neurodevelopmental abnormality	2629	GBA1	OMIM:231000
HP:0012759	Neurodevelopmental abnormality	11014	KDELR2	OMIM:619131
HP:0012759	Neurodevelopmental abnormality	84231	TRAF7	OMIM:618164
HP:0012759	Neurodevelopmental abnormality	4781	NFIB	OMIM:618286
HP:0012759	Neurodevelopmental abnormality	100	ADA	OMIM:102700
HP:0012759	Neurodevelopmental abnormality	2733	GLE1	OMIM:611890
HP:0012759	Neurodevelopmental abnormality	5236	PGM1	OMIM:614921
HP:0012759	Neurodevelopmental abnormality	54187	NANS	OMIM:610442
HP:0012759	Neurodevelopmental abnormality	9997	SCO2	ORPHA:521411
HP:0012759	Neurodevelopmental abnormality	138050	HGSNAT	OMIM:252930
HP:0012759	Neurodevelopmental abnormality	779	CACNA1S	OMIM:620246
HP:0012759	Neurodevelopmental abnormality	51082	POLR1D	OMIM:613717
HP:0012759	Neurodevelopmental abnormality	124093	CCDC78	OMIM:614807
HP:0012759	Neurodevelopmental abnormality	11011	TLK2	OMIM:618050
HP:0012759	Neurodevelopmental abnormality	64432	MRPS25	OMIM:619025
HP:0012759	Neurodevelopmental abnormality	84842	HPDL	OMIM:619026
HP:0012759	Neurodevelopmental abnormality	90523	MLIP	OMIM:620138
HP:0012759	Neurodevelopmental abnormality	5256	PHKA2	OMIM:306000
HP:0012759	Neurodevelopmental abnormality	161742	SPRED1	ORPHA:137605
HP:0012759	Neurodevelopmental abnormality	2690	GHR	ORPHA:633
HP:0012759	Neurodevelopmental abnormality	121340	SP7	OMIM:613849
HP:0012759	Neurodevelopmental abnormality	6095	RORA	OMIM:618060
HP:0012759	Neurodevelopmental abnormality	4702	NDUFA8	OMIM:619272
HP:0012759	Neurodevelopmental abnormality	27183	VPS4A	OMIM:619273
HP:0012759	Neurodevelopmental abnormality	6535	SLC6A8	OMIM:300352
HP:0012759	Neurodevelopmental abnormality	51102	MECR	ORPHA:508093
HP:0012759	Neurodevelopmental abnormality	6834	SURF1	OMIM:220110
HP:0012759	Neurodevelopmental abnormality	23019	CNOT1	OMIM:619033
HP:0012759	Neurodevelopmental abnormality	55503	TRPV6	OMIM:618188
HP:0012759	Neurodevelopmental abnormality	27178	IL37	OMIM:619398
HP:0012759	Neurodevelopmental abnormality	775	CACNA1C	OMIM:620029
HP:0012759	Neurodevelopmental abnormality	8496	PPFIBP1	OMIM:620024
HP:0012759	Neurodevelopmental abnormality	51816	ADA2	ORPHA:820
HP:0012759	Neurodevelopmental abnormality	9839	ZEB2	OMIM:235730
HP:0012759	Neurodevelopmental abnormality	5376	PMP22	OMIM:180800
HP:0012759	Neurodevelopmental abnormality	5376	PMP22	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	4758	NEU1	ORPHA:93399
HP:0012759	Neurodevelopmental abnormality	2617	GARS1	OMIM:619042
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	OMIM:615731
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	89910	UBE3B	OMIM:244450
HP:0012759	Neurodevelopmental abnormality	6576	SLC25A1	OMIM:618197
HP:0012759	Neurodevelopmental abnormality	6576	SLC25A1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	9442	MED27	OMIM:619286
HP:0012759	Neurodevelopmental abnormality	131377	KLHL40	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	56203	LMOD3	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	4649	MYO9A	OMIM:618198
HP:0012759	Neurodevelopmental abnormality	4649	MYO9A	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	4010	LMX1B	ORPHA:495818
HP:0012759	Neurodevelopmental abnormality	9640	ZNF592	ORPHA:83472
HP:0012759	Neurodevelopmental abnormality	84942	WDR73	ORPHA:83472
HP:0012759	Neurodevelopmental abnormality	6507	SLC1A3	OMIM:612656
HP:0012759	Neurodevelopmental abnormality	5689	PSMB1	OMIM:620038
HP:0012759	Neurodevelopmental abnormality	199857	ALG14	ORPHA:353327
HP:0012759	Neurodevelopmental abnormality	7125	TNNC2	OMIM:620161
HP:0012759	Neurodevelopmental abnormality	51324	SPG21	OMIM:248900
HP:0012759	Neurodevelopmental abnormality	1185	CLCN6	OMIM:619173
HP:0012759	Neurodevelopmental abnormality	84665	MYPN	ORPHA:171881
HP:0012759	Neurodevelopmental abnormality	84665	MYPN	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	9739	SETD1A	OMIM:619056
HP:0012759	Neurodevelopmental abnormality	191	AHCY	OMIM:613752
HP:0012759	Neurodevelopmental abnormality	55157	DARS2	ORPHA:137898
HP:0012759	Neurodevelopmental abnormality	55157	DARS2	OMIM:611105
HP:0012759	Neurodevelopmental abnormality	8792	TNFRSF11A	OMIM:612301
HP:0012759	Neurodevelopmental abnormality	36	ACADSB	OMIM:610006
HP:0012759	Neurodevelopmental abnormality	56984	PSMG2	OMIM:619183
HP:0012759	Neurodevelopmental abnormality	8802	SUCLG1	OMIM:245400
HP:0012759	Neurodevelopmental abnormality	100303755	PET117	OMIM:619063
HP:0012759	Neurodevelopmental abnormality	64919	BCL11B	OMIM:618092
HP:0012759	Neurodevelopmental abnormality	4633	MYL2	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	3679	ITGA7	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	3679	ITGA7	OMIM:613204
HP:0012759	Neurodevelopmental abnormality	51776	MAP3K20	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	51776	MAP3K20	OMIM:617760
HP:0012759	Neurodevelopmental abnormality	4697	NDUFA4	OMIM:619065
HP:0012759	Neurodevelopmental abnormality	55636	CHD7	OMIM:214800
HP:0012759	Neurodevelopmental abnormality	3070	HELLS	OMIM:616911
HP:0012759	Neurodevelopmental abnormality	10382	TUBB4A	OMIM:612438
HP:0012759	Neurodevelopmental abnormality	165	AEBP1	ORPHA:536532
HP:0012759	Neurodevelopmental abnormality	374654	KIF7	OMIM:607131
HP:0012759	Neurodevelopmental abnormality	121512	FGD4	OMIM:609311
HP:0012759	Neurodevelopmental abnormality	7915	ALDH5A1	OMIM:271980
HP:0012759	Neurodevelopmental abnormality	2743	GLRB	OMIM:614619
HP:0012759	Neurodevelopmental abnormality	9653	HS2ST1	OMIM:619194
HP:0012759	Neurodevelopmental abnormality	3735	KARS1	OMIM:619196
HP:0012759	Neurodevelopmental abnormality	11340	EXOSC8	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	5393	EXOSC9	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	51010	EXOSC3	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	91137	SLC25A46	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	54499	TMCO1	OMIM:213980
HP:0012759	Neurodevelopmental abnormality	10518	CIB2	OMIM:614869
HP:0012759	Neurodevelopmental abnormality	64837	KLC2	OMIM:609541
HP:0012759	Neurodevelopmental abnormality	23137	SMC5	OMIM:620185
HP:0012759	Neurodevelopmental abnormality	6558	SLC12A2	OMIM:619081
HP:0012759	Neurodevelopmental abnormality	1785	DNM2	OMIM:160150
HP:0012759	Neurodevelopmental abnormality	64419	MTMR14	OMIM:160150
HP:0012759	Neurodevelopmental abnormality	79813	EHMT1	ORPHA:261652
HP:0012759	Neurodevelopmental abnormality	58508	KMT2C	ORPHA:261652
HP:0012759	Neurodevelopmental abnormality	9321	TRIP11	OMIM:184260
HP:0012759	Neurodevelopmental abnormality	2548	GAA	ORPHA:308552
HP:0012759	Neurodevelopmental abnormality	347733	TUBB2B	OMIM:610031
HP:0012759	Neurodevelopmental abnormality	1028	CDKN1C	ORPHA:397590
HP:0012759	Neurodevelopmental abnormality	5324	PLAG1	ORPHA:397590
HP:0012759	Neurodevelopmental abnormality	5165	PDK3	ORPHA:352675
HP:0012759	Neurodevelopmental abnormality	10430	TMEM147	OMIM:620075
HP:0012759	Neurodevelopmental abnormality	5092	PCBD1	OMIM:264070
HP:0012759	Neurodevelopmental abnormality	8242	KDM5C	OMIM:300534
HP:0012759	Neurodevelopmental abnormality	51741	WWOX	ORPHA:284282
HP:0012759	Neurodevelopmental abnormality	6389	SDHA	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	6390	SDHB	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	6392	SDHD	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	644096	SDHAF1	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	1374	CPT1A	OMIM:255120
HP:0012759	Neurodevelopmental abnormality	390594	KBTBD13	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	1384	CRAT	OMIM:617917
HP:0012759	Neurodevelopmental abnormality	81846	SBF2	ORPHA:99956
HP:0012759	Neurodevelopmental abnormality	85021	REPS1	OMIM:617916
HP:0012759	Neurodevelopmental abnormality	57679	ALS2	OMIM:607225
HP:0012759	Neurodevelopmental abnormality	1487	CTBP1	OMIM:617915
HP:0012759	Neurodevelopmental abnormality	6509	SLC1A4	ORPHA:447997
HP:0012759	Neurodevelopmental abnormality	6314	ATXN7	ORPHA:94147
HP:0012759	Neurodevelopmental abnormality	226	ALDOA	ORPHA:57
HP:0012759	Neurodevelopmental abnormality	51067	YARS2	OMIM:613561
HP:0012759	Neurodevelopmental abnormality	91252	SLC39A13	OMIM:612350
HP:0012759	Neurodevelopmental abnormality	57716	PRX	OMIM:614895
HP:0012759	Neurodevelopmental abnormality	57716	PRX	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	4208	MEF2C	OMIM:613443
HP:0012759	Neurodevelopmental abnormality	22907	DHX30	OMIM:617804
HP:0012759	Neurodevelopmental abnormality	51053	GMNN	OMIM:616835
HP:0012759	Neurodevelopmental abnormality	2719	GPC3	OMIM:312870
HP:0012759	Neurodevelopmental abnormality	2239	GPC4	OMIM:312870
HP:0012759	Neurodevelopmental abnormality	4000	LMNA	OMIM:613205
HP:0012759	Neurodevelopmental abnormality	23534	TNPO3	OMIM:608423
HP:0012759	Neurodevelopmental abnormality	1959	EGR2	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	1959	EGR2	OMIM:605253
HP:0012759	Neurodevelopmental abnormality	4976	OPA1	OMIM:210000
HP:0012759	Neurodevelopmental abnormality	10075	HUWE1	OMIM:309590
HP:0012759	Neurodevelopmental abnormality	8729	GBF1	OMIM:606483
HP:0012759	Neurodevelopmental abnormality	579	NKX3-2	OMIM:613330
HP:0012759	Neurodevelopmental abnormality	9698	PUM1	OMIM:617931
HP:0012759	Neurodevelopmental abnormality	1305	COL13A1	OMIM:616720
HP:0012759	Neurodevelopmental abnormality	1305	COL13A1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	2290	FOXG1	OMIM:613454
HP:0012759	Neurodevelopmental abnormality	23394	ADNP	OMIM:615873
HP:0012759	Neurodevelopmental abnormality	11133	KPTN	OMIM:615637
HP:0012759	Neurodevelopmental abnormality	23028	KDM1A	OMIM:616728
HP:0012759	Neurodevelopmental abnormality	22845	DOLK	ORPHA:91131
HP:0012759	Neurodevelopmental abnormality	26115	TANC2	OMIM:618906
HP:0012759	Neurodevelopmental abnormality	4854	NOTCH3	OMIM:130720
HP:0012759	Neurodevelopmental abnormality	10229	COQ7	OMIM:616733
HP:0012759	Neurodevelopmental abnormality	23291	FBXW11	OMIM:618914
HP:0012759	Neurodevelopmental abnormality	10982	MAPRE2	OMIM:616734
HP:0012759	Neurodevelopmental abnormality	55033	FKBP14	OMIM:614557
HP:0012759	Neurodevelopmental abnormality	55033	FKBP14	ORPHA:300179
HP:0012759	Neurodevelopmental abnormality	3736	KCNA1	ORPHA:37612
HP:0012759	Neurodevelopmental abnormality	3176	HNMT	OMIM:616739
HP:0012759	Neurodevelopmental abnormality	2542	SLC37A4	ORPHA:79259
HP:0012759	Neurodevelopmental abnormality	27235	COQ2	OMIM:607426
HP:0012759	Neurodevelopmental abnormality	116150	NUS1	OMIM:617831
HP:0012759	Neurodevelopmental abnormality	55603	TENT5A	OMIM:617952
HP:0012759	Neurodevelopmental abnormality	26007	TKFC	OMIM:618805
HP:0012759	Neurodevelopmental abnormality	4358	MPV17	OMIM:256810
HP:0012759	Neurodevelopmental abnormality	2058	EPRS1	OMIM:617951
HP:0012759	Neurodevelopmental abnormality	84693	MCEE	OMIM:251120
HP:0012759	Neurodevelopmental abnormality	54806	AHI1	OMIM:608629
HP:0012759	Neurodevelopmental abnormality	4982	TNFRSF11B	OMIM:239000
HP:0012759	Neurodevelopmental abnormality	1641	DCX	OMIM:300067
HP:0012759	Neurodevelopmental abnormality	478	ATP1A3	ORPHA:71517
HP:0012759	Neurodevelopmental abnormality	427	ASAH1	OMIM:228000
HP:0012759	Neurodevelopmental abnormality	7421	VDR	OMIM:277440
HP:0012759	Neurodevelopmental abnormality	23152	CIC	OMIM:617600
HP:0012759	Neurodevelopmental abnormality	23395	LARS2	OMIM:615300
HP:0012759	Neurodevelopmental abnormality	11280	SCN11A	OMIM:615548
HP:0012759	Neurodevelopmental abnormality	65217	PCDH15	OMIM:602083
HP:0012759	Neurodevelopmental abnormality	2584	GALK1	ORPHA:79237
HP:0012759	Neurodevelopmental abnormality	11019	LIAS	OMIM:614462
HP:0012759	Neurodevelopmental abnormality	10367	MICU1	OMIM:615673
HP:0012759	Neurodevelopmental abnormality	2588	GALNS	OMIM:253000
HP:0012759	Neurodevelopmental abnormality	1778	DYNC1H1	OMIM:614228
HP:0012759	Neurodevelopmental abnormality	8087	FXR1	OMIM:618822
HP:0012759	Neurodevelopmental abnormality	8087	FXR1	OMIM:618823
HP:0012759	Neurodevelopmental abnormality	8405	SPOP	OMIM:618828
HP:0012759	Neurodevelopmental abnormality	8405	SPOP	OMIM:618829
HP:0012759	Neurodevelopmental abnormality	6697	SPR	ORPHA:70594
HP:0012759	Neurodevelopmental abnormality	6857	SYT1	ORPHA:522077
HP:0012759	Neurodevelopmental abnormality	54870	QRICH1	OMIM:617982
HP:0012759	Neurodevelopmental abnormality	83737	ITCH	OMIM:613385
HP:0012759	Neurodevelopmental abnormality	283989	TSEN54	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	79042	TSEN34	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	80746	TSEN2	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	57688	ZSWIM6	OMIM:617865
HP:0012759	Neurodevelopmental abnormality	1103	CHAT	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	375790	AGRN	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6572	SLC18A3	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6616	SNAP25	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	5261	PHKG2	OMIM:613027
HP:0012759	Neurodevelopmental abnormality	54676	GTPBP2	OMIM:617988
HP:0012759	Neurodevelopmental abnormality	3033	HADH	ORPHA:71212
HP:0012759	Neurodevelopmental abnormality	84628	NTNG2	OMIM:618718
HP:0012759	Neurodevelopmental abnormality	259266	ASPM	OMIM:608716
HP:0012759	Neurodevelopmental abnormality	126792	B3GALT6	ORPHA:536467
HP:0012759	Neurodevelopmental abnormality	126792	B3GALT6	OMIM:615349
HP:0012759	Neurodevelopmental abnormality	374462	PTPRQ	OMIM:613391
HP:0012759	Neurodevelopmental abnormality	9320	TRIP12	OMIM:617752
HP:0012759	Neurodevelopmental abnormality	51780	KDM3B	OMIM:618846
HP:0012759	Neurodevelopmental abnormality	5879	RAC1	ORPHA:500159
HP:0012759	Neurodevelopmental abnormality	84700	MYO18B	OMIM:616549
HP:0012759	Neurodevelopmental abnormality	8777	MPDZ	OMIM:615219
HP:0012759	Neurodevelopmental abnormality	9939	RBM8A	OMIM:274000
HP:0012759	Neurodevelopmental abnormality	166929	SGMS2	OMIM:126550
HP:0012759	Neurodevelopmental abnormality	7138	TNNT1	ORPHA:98902
HP:0012759	Neurodevelopmental abnormality	4848	CNOT2	OMIM:618608
HP:0012759	Neurodevelopmental abnormality	8139	GAN	OMIM:256850
HP:0012759	Neurodevelopmental abnormality	26229	B3GAT3	OMIM:245600
HP:0012759	Neurodevelopmental abnormality	51733	UPB1	OMIM:613161
HP:0012759	Neurodevelopmental abnormality	5087	PBX1	OMIM:617641
HP:0012759	Neurodevelopmental abnormality	8803	SUCLA2	OMIM:612073
HP:0012759	Neurodevelopmental abnormality	51763	INPP5K	OMIM:617404
HP:0012759	Neurodevelopmental abnormality	4858	NOVA2	OMIM:618859
HP:0012759	Neurodevelopmental abnormality	9181	ARHGEF2	OMIM:617523
HP:0012759	Neurodevelopmental abnormality	25871	NEPRO	OMIM:618853
HP:0012759	Neurodevelopmental abnormality	4654	MYOD1	OMIM:618975
HP:0012759	Neurodevelopmental abnormality	7252	TSHB	OMIM:275100
HP:0012759	Neurodevelopmental abnormality	4524	MTHFR	ORPHA:395
HP:0012759	Neurodevelopmental abnormality	6309	SC5D	ORPHA:46059
HP:0012759	Neurodevelopmental abnormality	4487	MSX1	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	5818	NECTIN1	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	8626	TP63	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	3664	IRF6	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	3664	IRF6	ORPHA:1300
HP:0012759	Neurodevelopmental abnormality	79783	SUGCT	ORPHA:35706
HP:0012759	Neurodevelopmental abnormality	6687	SPG7	ORPHA:99013
HP:0012759	Neurodevelopmental abnormality	23600	AMACR	ORPHA:79095
HP:0012759	Neurodevelopmental abnormality	129563	DIS3L2	ORPHA:2849
HP:0012759	Neurodevelopmental abnormality	150468	CKAP2L	ORPHA:3255
HP:0012759	Neurodevelopmental abnormality	2188	FANCF	OMIM:603467
HP:0012759	Neurodevelopmental abnormality	215	ABCD1	ORPHA:139396
HP:0012759	Neurodevelopmental abnormality	84100	ARL6	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	79140	CCDC28B	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	582	BBS1	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	1130	LYST	ORPHA:167
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2260	FGFR1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2260	FGFR1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	23007	PLCH1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	1593	CYP27A1	ORPHA:909
HP:0012759	Neurodevelopmental abnormality	1857	DVL3	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	7474	WNT5A	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	1855	DVL1	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	2535	FZD2	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	7454	WAS	ORPHA:906
HP:0012759	Neurodevelopmental abnormality	7456	WIPF1	ORPHA:906
HP:0012759	Neurodevelopmental abnormality	10056	FARSB	OMIM:613658
HP:0012759	Neurodevelopmental abnormality	81031	SLC2A10	ORPHA:3342
HP:0012759	Neurodevelopmental abnormality	4644	MYO5A	ORPHA:33445
HP:0012759	Neurodevelopmental abnormality	81887	LAS1L	ORPHA:3459
HP:0012759	Neurodevelopmental abnormality	7248	TSC1	OMIM:191100
HP:0012759	Neurodevelopmental abnormality	7248	TSC1	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	9993	DGCR2	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	8220	ESS2	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	8214	DGCR6	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	54487	DGCR8	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	2324	FLT4	ORPHA:79452
HP:0012759	Neurodevelopmental abnormality	56652	TWNK	OMIM:271245
HP:0012759	Neurodevelopmental abnormality	8218	CLTCL1	ORPHA:453510
HP:0012759	Neurodevelopmental abnormality	9725	TMEM63A	OMIM:618688
HP:0012759	Neurodevelopmental abnormality	3458	IFNG	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	3458	IFNG	OMIM:613254
HP:0012759	Neurodevelopmental abnormality	7249	TSC2	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	7249	TSC2	OMIM:613254
HP:0012759	Neurodevelopmental abnormality	23503	ZFYVE26	ORPHA:100996
HP:0012759	Neurodevelopmental abnormality	5587	PRKD1	OMIM:617364
HP:0012759	Neurodevelopmental abnormality	4089	SMAD4	ORPHA:2588
HP:0012759	Neurodevelopmental abnormality	22856	CHSY1	ORPHA:363417
HP:0012759	Neurodevelopmental abnormality	5621	PRNP	ORPHA:280397
HP:0012759	Neurodevelopmental abnormality	2334	AFF2	ORPHA:100973
HP:0012759	Neurodevelopmental abnormality	9948	WDR1	OMIM:150550
HP:0012759	Neurodevelopmental abnormality	26277	TINF2	OMIM:127550
HP:0012759	Neurodevelopmental abnormality	7012	TERC	OMIM:127550
HP:0012759	Neurodevelopmental abnormality	7015	TERT	OMIM:127550
HP:0012759	Neurodevelopmental abnormality	26128	KIFBP	ORPHA:66629
HP:0012759	Neurodevelopmental abnormality	148789	B3GALNT2	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	1282	COL4A1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	10329	RXYLT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	11041	B4GAT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	6609	SMPD1	ORPHA:77293
HP:0012759	Neurodevelopmental abnormality	3759	KCNJ2	OMIM:170390
HP:0012759	Neurodevelopmental abnormality	3759	KCNJ2	ORPHA:37553
HP:0012759	Neurodevelopmental abnormality	81620	CDT1	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	5000	ORC4	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	8318	CDC45	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	54539	NDUFB11	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	1349	COX7B	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	3052	HCCS	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	7703	PCGF2	OMIM:618371
HP:0012759	Neurodevelopmental abnormality	5283	PIGH	OMIM:618010
HP:0012759	Neurodevelopmental abnormality	4990	SIX6	OMIM:206900
HP:0012759	Neurodevelopmental abnormality	6657	SOX2	OMIM:206900
HP:0012759	Neurodevelopmental abnormality	64374	SIL1	ORPHA:559
HP:0012759	Neurodevelopmental abnormality	538	ATP7A	ORPHA:198
HP:0012759	Neurodevelopmental abnormality	22866	CNKSR2	OMIM:301008
HP:0012759	Neurodevelopmental abnormality	60676	PAPPA2	OMIM:619489
HP:0012759	Neurodevelopmental abnormality	26123	TCTN3	ORPHA:2753
HP:0012759	Neurodevelopmental abnormality	71	ACTG1	ORPHA:2995
HP:0012759	Neurodevelopmental abnormality	5286	PIK3C2A	ORPHA:557003
HP:0012759	Neurodevelopmental abnormality	5144	PDE4D	ORPHA:280651
HP:0012759	Neurodevelopmental abnormality	55294	FBXW7	OMIM:620012
HP:0012759	Neurodevelopmental abnormality	5605	MAP2K2	ORPHA:638
HP:0012759	Neurodevelopmental abnormality	3762	KCNJ5	ORPHA:37553
HP:0012759	Neurodevelopmental abnormality	9254	CACNA2D2	OMIM:618501
HP:0012759	Neurodevelopmental abnormality	65993	MRPS34	OMIM:617664
HP:0012759	Neurodevelopmental abnormality	387787	LIPT2	OMIM:617668
HP:0012759	Neurodevelopmental abnormality	10565	ARFGEF1	OMIM:619964
HP:0012759	Neurodevelopmental abnormality	170825	GSX2	OMIM:618646
HP:0012759	Neurodevelopmental abnormality	122961	ISCA2	OMIM:616370
HP:0012759	Neurodevelopmental abnormality	10667	FARS2	ORPHA:466722
HP:0012759	Neurodevelopmental abnormality	26173	INTS1	OMIM:618571
HP:0012759	Neurodevelopmental abnormality	55656	INTS8	OMIM:618572
HP:0012759	Neurodevelopmental abnormality	3658	IREB2	OMIM:618451
HP:0012759	Neurodevelopmental abnormality	51693	TRAPPC2L	OMIM:618331
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	OMIM:301072
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	OMIM:300868
HP:0012759	Neurodevelopmental abnormality	54892	NCAPG2	OMIM:618460
HP:0012759	Neurodevelopmental abnormality	8818	DPM2	ORPHA:329178
HP:0012759	Neurodevelopmental abnormality	6647	SOD1	OMIM:618598
HP:0012759	Neurodevelopmental abnormality	4081	MAB21L1	OMIM:618479
HP:0012759	Neurodevelopmental abnormality	23258	DENND5A	OMIM:617281
HP:0012759	Neurodevelopmental abnormality	57003	CCDC47	OMIM:618268
HP:0012759	Neurodevelopmental abnormality	94005	PIGS	OMIM:618143
HP:0012759	Neurodevelopmental abnormality	57038	RARS2	OMIM:611523
HP:0012759	Neurodevelopmental abnormality	777	CACNA1E	OMIM:618285
HP:0012759	Neurodevelopmental abnormality	55005	RMND1	OMIM:614922
HP:0012759	Neurodevelopmental abnormality	84081	NSRP1	OMIM:620001
HP:0012759	Neurodevelopmental abnormality	124454	EARS2	OMIM:614924
HP:0012759	Neurodevelopmental abnormality	1795	DOCK3	OMIM:618292
HP:0012759	Neurodevelopmental abnormality	87178	PNPT1	OMIM:614932
HP:0012759	Neurodevelopmental abnormality	87178	PNPT1	ORPHA:319514
HP:0012759	Neurodevelopmental abnormality	347734	SLC35B2	OMIM:620269
HP:0012759	Neurodevelopmental abnormality	1119	CHKA	OMIM:620023
HP:0012759	Neurodevelopmental abnormality	6531	SLC6A3	ORPHA:238455
HP:0012759	Neurodevelopmental abnormality	9255	AIMP1	OMIM:260600
HP:0012759	Neurodevelopmental abnormality	50628	GEMIN4	OMIM:617913
HP:0012759	Neurodevelopmental abnormality	51807	TUBA8	ORPHA:250972
HP:0012759	Neurodevelopmental abnormality	7280	TUBB2A	OMIM:615763
HP:0012759	Neurodevelopmental abnormality	51501	HIKESHI	OMIM:616881
HP:0012759	Neurodevelopmental abnormality	6182	MRPL12	OMIM:618951
HP:0012759	Neurodevelopmental abnormality	9197	SLC33A1	OMIM:614482
HP:0012759	Neurodevelopmental abnormality	57194	ATP10A	ORPHA:411515
HP:0012759	Neurodevelopmental abnormality	3763	KCNJ6	ORPHA:435628
HP:0012759	Neurodevelopmental abnormality	51399	TRAPPC4	OMIM:618741
HP:0012759	Neurodevelopmental abnormality	64116	SLC39A8	OMIM:616721
HP:0012759	Neurodevelopmental abnormality	64116	SLC39A8	ORPHA:468699
HP:0012759	Neurodevelopmental abnormality	7360	UGP2	OMIM:618744
HP:0012759	Neurodevelopmental abnormality	55746	NUP133	OMIM:618349
HP:0012759	Neurodevelopmental abnormality	53616	ADAM22	OMIM:617933
HP:0012759	Neurodevelopmental abnormality	781	CACNA2D1	OMIM:620149
HP:0012759	Neurodevelopmental abnormality	64220	STRA6	OMIM:601186
HP:0012759	Neurodevelopmental abnormality	128869	PIGU	OMIM:618590
HP:0012759	Neurodevelopmental abnormality	1193	CLIC2	OMIM:300886
HP:0012759	Neurodevelopmental abnormality	1193	CLIC2	ORPHA:324410
HP:0012759	Neurodevelopmental abnormality	11277	TREX1	OMIM:225750
HP:0012759	Neurodevelopmental abnormality	11277	TREX1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	64801	ARV1	OMIM:617020
HP:0012759	Neurodevelopmental abnormality	8867	SYNJ1	OMIM:617389
HP:0012759	Neurodevelopmental abnormality	6487	ST3GAL3	OMIM:615006
HP:0012759	Neurodevelopmental abnormality	112939	NACC1	ORPHA:500545
HP:0012759	Neurodevelopmental abnormality	55768	NGLY1	ORPHA:404454
HP:0012759	Neurodevelopmental abnormality	63908	NAPB	OMIM:620033
HP:0012759	Neurodevelopmental abnormality	9215	LARGE1	OMIM:236670
HP:0012759	Neurodevelopmental abnormality	9215	LARGE1	OMIM:608840
HP:0012759	Neurodevelopmental abnormality	2218	FKTN	OMIM:236670
HP:0012759	Neurodevelopmental abnormality	56915	EXOSC5	OMIM:619576
HP:0012759	Neurodevelopmental abnormality	7343	UBTF	OMIM:617672
HP:0012759	Neurodevelopmental abnormality	7343	UBTF	ORPHA:500180
HP:0012759	Neurodevelopmental abnormality	6709	SPTAN1	OMIM:613477
HP:0012759	Neurodevelopmental abnormality	7965	AIMP2	OMIM:618006
HP:0012759	Neurodevelopmental abnormality	23325	WASHC4	OMIM:615817
HP:0012759	Neurodevelopmental abnormality	9361	LONP1	ORPHA:79243
HP:0012759	Neurodevelopmental abnormality	5160	PDHA1	ORPHA:79243
HP:0012759	Neurodevelopmental abnormality	83480	PUS3	ORPHA:488627
HP:0012759	Neurodevelopmental abnormality	83480	PUS3	OMIM:617051
HP:0012759	Neurodevelopmental abnormality	171023	ASXL1	ORPHA:97297
HP:0012759	Neurodevelopmental abnormality	171023	ASXL1	OMIM:605039
HP:0012759	Neurodevelopmental abnormality	11342	RNF13	OMIM:618379
HP:0012759	Neurodevelopmental abnormality	11342	RNF13	ORPHA:544503
HP:0012759	Neurodevelopmental abnormality	4905	NSF	OMIM:619340
HP:0012759	Neurodevelopmental abnormality	54681	P4HTM	OMIM:618493
HP:0012759	Neurodevelopmental abnormality	2257	FGF12	OMIM:617166
HP:0012759	Neurodevelopmental abnormality	128637	TBC1D20	OMIM:615663
HP:0012759	Neurodevelopmental abnormality	6785	ELOVL4	OMIM:614457
HP:0012759	Neurodevelopmental abnormality	54872	PIGG	OMIM:616917
HP:0012759	Neurodevelopmental abnormality	6812	STXBP1	OMIM:612164
HP:0012759	Neurodevelopmental abnormality	7737	RNF113A	OMIM:300953
HP:0012759	Neurodevelopmental abnormality	22931	RAB18	OMIM:614222
HP:0012759	Neurodevelopmental abnormality	285175	UNC80	OMIM:616801
HP:0012759	Neurodevelopmental abnormality	51091	SEPSECS	OMIM:613811
HP:0012759	Neurodevelopmental abnormality	56270	WDR45B	OMIM:617977
HP:0012759	Neurodevelopmental abnormality	51611	DPH5	OMIM:620070
HP:0012759	Neurodevelopmental abnormality	2571	GAD1	OMIM:619124
HP:0012759	Neurodevelopmental abnormality	60558	GUF1	OMIM:617065
HP:0012759	Neurodevelopmental abnormality	51124	IER3IP1	OMIM:614231
HP:0012759	Neurodevelopmental abnormality	9326	ZNHIT3	OMIM:260565
HP:0012759	Neurodevelopmental abnormality	6506	SLC1A2	OMIM:617105
HP:0012759	Neurodevelopmental abnormality	55704	CCDC88A	OMIM:617507
HP:0012759	Neurodevelopmental abnormality	100506658	OCLN	OMIM:251290
HP:0012759	Neurodevelopmental abnormality	471	ATIC	OMIM:608688
HP:0012759	Neurodevelopmental abnormality	23065	EMC1	ORPHA:480898
HP:0012759	Neurodevelopmental abnormality	2271	FH	OMIM:606812
HP:0012759	Neurodevelopmental abnormality	5296	PIK3R2	OMIM:603387
HP:0012759	Neurodevelopmental abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0012759	Neurodevelopmental abnormality	523	ATP6V1A	ORPHA:357074
HP:0012759	Neurodevelopmental abnormality	529	ATP6V1E1	ORPHA:357074
HP:0012759	Neurodevelopmental abnormality	3423	IDS	OMIM:309900
HP:0012759	Neurodevelopmental abnormality	10479	SLC9A6	ORPHA:85278
HP:0012759	Neurodevelopmental abnormality	729920	CRPPA	OMIM:614643
HP:0012759	Neurodevelopmental abnormality	51227	PIGP	OMIM:617599
HP:0012759	Neurodevelopmental abnormality	55275	VPS53	OMIM:615851
HP:0012759	Neurodevelopmental abnormality	8481	OFD1	OMIM:300804
HP:0012759	Neurodevelopmental abnormality	51294	PCDH12	OMIM:251280
HP:0012759	Neurodevelopmental abnormality	9439	MED23	OMIM:614249
HP:0012759	Neurodevelopmental abnormality	701	BUB1B	OMIM:257300
HP:0012759	Neurodevelopmental abnormality	58497	PRUNE1	OMIM:617481
HP:0012759	Neurodevelopmental abnormality	54344	DPM3	ORPHA:263494
HP:0012759	Neurodevelopmental abnormality	84188	FAR1	OMIM:616154
HP:0012759	Neurodevelopmental abnormality	3329	HSPD1	OMIM:612233
HP:0012759	Neurodevelopmental abnormality	54820	NDE1	OMIM:614019
HP:0012759	Neurodevelopmental abnormality	7407	VARS1	OMIM:617802
HP:0012759	Neurodevelopmental abnormality	10695	CNPY3	OMIM:617929
HP:0012759	Neurodevelopmental abnormality	10535	RNASEH2A	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	84153	RNASEH2C	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	25939	SAMHD1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	79621	RNASEH2B	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	100147744	RNU7-1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	134353	LSM11	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	64135	IFIH1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	23769	FLRT1	ORPHA:320406
HP:0012759	Neurodevelopmental abnormality	4618	MYF6	ORPHA:169189
HP:0012759	Neurodevelopmental abnormality	55687	TRMU	ORPHA:254864
HP:0012759	Neurodevelopmental abnormality	3035	HARS1	OMIM:614504
HP:0012759	Neurodevelopmental abnormality	2248	FGF3	OMIM:610706
HP:0012759	Neurodevelopmental abnormality	8720	MBTPS1	OMIM:618392
HP:0012759	Neurodevelopmental abnormality	3198	HOXA1	OMIM:601536
HP:0012759	Neurodevelopmental abnormality	4038	LRP4	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	4038	LRP4	OMIM:212780
HP:0012759	Neurodevelopmental abnormality	4593	MUSK	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	5913	RAPSN	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	221264	AK9	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	285489	DOK7	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	5557	PRIM1	OMIM:620005
HP:0012759	Neurodevelopmental abnormality	9927	MFN2	OMIM:617087
HP:0012759	Neurodevelopmental abnormality	7043	TGFB3	OMIM:615582
HP:0012759	Neurodevelopmental abnormality	5138	PDE2A	OMIM:619150
HP:0012759	Neurodevelopmental abnormality	27316	RBMX	OMIM:300238
HP:0012759	Neurodevelopmental abnormality	50651	SLC45A1	OMIM:617532
HP:0012759	Neurodevelopmental abnormality	5238	PGM3	ORPHA:443811
HP:0012759	Neurodevelopmental abnormality	51343	FZR1	OMIM:620145
HP:0012759	Neurodevelopmental abnormality	3190	HNRNPK	ORPHA:453504
HP:0012759	Neurodevelopmental abnormality	3190	HNRNPK	ORPHA:352665
HP:0012759	Neurodevelopmental abnormality	54968	TMEM70	ORPHA:1194
HP:0012759	Neurodevelopmental abnormality	1278	COL1A2	ORPHA:230851
HP:0012759	Neurodevelopmental abnormality	7552	ZNF711	OMIM:300803
HP:0012759	Neurodevelopmental abnormality	56997	COQ8A	ORPHA:139485
HP:0012759	Neurodevelopmental abnormality	25914	RTTN	OMIM:614833
HP:0012759	Neurodevelopmental abnormality	2192	FBLN1	ORPHA:404451
HP:0012759	Neurodevelopmental abnormality	284403	WDR62	OMIM:604317
HP:0012759	Neurodevelopmental abnormality	84992	PIGY	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	84720	PIGO	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	93210	PGAP3	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	284098	PIGW	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	55650	PIGV	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	9487	PIGL	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	9968	MED12	ORPHA:93932
HP:0012759	Neurodevelopmental abnormality	81857	MED25	ORPHA:464738
HP:0012759	Neurodevelopmental abnormality	343641	TGM6	ORPHA:276193
HP:0012759	Neurodevelopmental abnormality	6872	TAF1	ORPHA:480907
HP:0012759	Neurodevelopmental abnormality	51651	PTRH2	ORPHA:456312
HP:0012759	Neurodevelopmental abnormality	51651	PTRH2	OMIM:616263
HP:0012759	Neurodevelopmental abnormality	23312	DMXL2	OMIM:616113
HP:0012759	Neurodevelopmental abnormality	23312	DMXL2	ORPHA:453533
HP:0012759	Neurodevelopmental abnormality	6999	TDO2	OMIM:600627
HP:0012759	Neurodevelopmental abnormality	10352	WARS2	ORPHA:572798
HP:0012759	Neurodevelopmental abnormality	7291	TWIST1	OMIM:101400
HP:0012759	Neurodevelopmental abnormality	7291	TWIST1	ORPHA:794
HP:0012759	Neurodevelopmental abnormality	1798	DPAGT1	ORPHA:86309
HP:0012759	Neurodevelopmental abnormality	2746	GLUD1	ORPHA:35878
HP:0012759	Neurodevelopmental abnormality	8239	USP9X	ORPHA:480880
HP:0012759	Neurodevelopmental abnormality	8642	DCHS1	ORPHA:314679
HP:0012759	Neurodevelopmental abnormality	5832	ALDH18A1	OMIM:219150
HP:0012759	Neurodevelopmental abnormality	23314	SATB2	ORPHA:576283
HP:0012759	Neurodevelopmental abnormality	8573	CASK	ORPHA:163937
HP:0012759	Neurodevelopmental abnormality	8573	CASK	OMIM:300749
HP:0012759	Neurodevelopmental abnormality	111	ADCY5	OMIM:619651
HP:0012759	Neurodevelopmental abnormality	10735	STAG2	ORPHA:521258
HP:0012759	Neurodevelopmental abnormality	2961	GTF2E2	OMIM:616943
HP:0012759	Neurodevelopmental abnormality	4556	MT-TE	ORPHA:2596
HP:0012759	Neurodevelopmental abnormality	10682	EBP	OMIM:302960
HP:0012759	Neurodevelopmental abnormality	3798	KIF5A	ORPHA:100991
HP:0012759	Neurodevelopmental abnormality	51117	COQ4	OMIM:616276
HP:0012759	Neurodevelopmental abnormality	7319	UBE2A	ORPHA:163956
HP:0012759	Neurodevelopmental abnormality	80816	ASXL3	ORPHA:352577
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	ORPHA:794
HP:0012759	Neurodevelopmental abnormality	6323	SCN1A	OMIM:607208
HP:0012759	Neurodevelopmental abnormality	10765	KDM5B	OMIM:618109
HP:0012759	Neurodevelopmental abnormality	10586	MAB21L2	OMIM:615877
HP:0012759	Neurodevelopmental abnormality	85358	SHANK3	OMIM:606232
HP:0012759	Neurodevelopmental abnormality	1950	EGF	OMIM:611718
HP:0012759	Neurodevelopmental abnormality	91147	TMEM67	OMIM:216360
HP:0012759	Neurodevelopmental abnormality	91147	TMEM67	ORPHA:1454
HP:0012759	Neurodevelopmental abnormality	51103	NDUFAF1	OMIM:618234
HP:0012759	Neurodevelopmental abnormality	79133	NDUFAF5	OMIM:618238
HP:0012759	Neurodevelopmental abnormality	6301	SARS1	OMIM:617709
HP:0012759	Neurodevelopmental abnormality	6904	TBCD	ORPHA:496641
HP:0012759	Neurodevelopmental abnormality	84679	SLC9A7	OMIM:301024
HP:0012759	Neurodevelopmental abnormality	4810	NHS	OMIM:302350
HP:0012759	Neurodevelopmental abnormality	24140	FTSJ1	OMIM:309549
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	ORPHA:544254
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	OMIM:612621
HP:0012759	Neurodevelopmental abnormality	6597	SMARCA4	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	6598	SMARCB1	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	6659	SOX4	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	8289	ARID1A	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	5977	DPF2	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	6601	SMARCC2	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	6602	SMARCD1	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	196528	ARID2	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	6605	SMARCE1	ORPHA:1465
HP:0012759	Neurodevelopmental abnormality	23389	MED13L	ORPHA:369891
HP:0012759	Neurodevelopmental abnormality	23389	MED13L	OMIM:616789
HP:0012759	Neurodevelopmental abnormality	64093	SMOC1	ORPHA:1106
HP:0012759	Neurodevelopmental abnormality	22827	PUF60	ORPHA:508488
HP:0012759	Neurodevelopmental abnormality	80185	TTI2	OMIM:615541
HP:0012759	Neurodevelopmental abnormality	80185	TTI2	ORPHA:391307
HP:0012759	Neurodevelopmental abnormality	23322	RPGRIP1L	ORPHA:1454
HP:0012759	Neurodevelopmental abnormality	57545	CC2D2A	ORPHA:1454
HP:0012759	Neurodevelopmental abnormality	5723	PSPH	ORPHA:79350
HP:0012759	Neurodevelopmental abnormality	9791	PTDSS1	OMIM:151050
HP:0012759	Neurodevelopmental abnormality	8812	CCNK	OMIM:618147
HP:0012759	Neurodevelopmental abnormality	27107	ZBTB11	OMIM:618383
HP:0012759	Neurodevelopmental abnormality	1861	TOR1A	OMIM:618947
HP:0012759	Neurodevelopmental abnormality	131669	UROC1	OMIM:276880
HP:0012759	Neurodevelopmental abnormality	4983	OPHN1	ORPHA:137831
HP:0012759	Neurodevelopmental abnormality	6925	TCF4	ORPHA:2896
HP:0012759	Neurodevelopmental abnormality	26047	CNTNAP2	ORPHA:163681
HP:0012759	Neurodevelopmental abnormality	10283	CWC27	ORPHA:166035
HP:0012759	Neurodevelopmental abnormality	9918	NCAPD2	OMIM:617983
HP:0012759	Neurodevelopmental abnormality	55755	CDK5RAP2	OMIM:604804
HP:0012759	Neurodevelopmental abnormality	6472	SHMT2	OMIM:619121
HP:0012759	Neurodevelopmental abnormality	5075	PAX1	OMIM:615560
HP:0012759	Neurodevelopmental abnormality	29123	ANKRD11	ORPHA:261250
HP:0012759	Neurodevelopmental abnormality	23397	NCAPH	OMIM:617985
HP:0012759	Neurodevelopmental abnormality	8450	CUL4B	ORPHA:85293
HP:0012759	Neurodevelopmental abnormality	5495	PPM1B	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	6519	SLC3A1	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	9581	PREPL	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	79823	CAMKMT	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	54888	NSUN2	OMIM:611091
HP:0012759	Neurodevelopmental abnormality	5528	PPP2R5D	ORPHA:457279
HP:0012759	Neurodevelopmental abnormality	84668	HYCC1	ORPHA:85163
HP:0012759	Neurodevelopmental abnormality	64131	XYLT1	ORPHA:370930
HP:0012759	Neurodevelopmental abnormality	11141	IL1RAPL1	OMIM:300143
HP:0012759	Neurodevelopmental abnormality	51109	RDH11	ORPHA:436245
HP:0012759	Neurodevelopmental abnormality	10369	CACNG2	OMIM:614256
HP:0012759	Neurodevelopmental abnormality	284217	LAMA1	ORPHA:370022
HP:0012759	Neurodevelopmental abnormality	343450	KCNT2	OMIM:617771
HP:0012759	Neurodevelopmental abnormality	4072	EPCAM	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	4292	MLH1	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5395	PMS2	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	27030	MLH3	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	22909	FAN1	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	2956	MSH6	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5378	PMS1	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	4436	MSH2	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	OMIM:249900
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309271
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309263
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	OMIM:610539
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309256
HP:0012759	Neurodevelopmental abnormality	4536	MT-ND2	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4537	MT-ND3	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4577	MT-TV	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	51218	GLRX5	ORPHA:401866
HP:0012759	Neurodevelopmental abnormality	51112	TRAPPC12	ORPHA:500144
HP:0012759	Neurodevelopmental abnormality	51112	TRAPPC12	OMIM:617669
HP:0012759	Neurodevelopmental abnormality	6224	RPS20	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	790	CAD	OMIM:616457
HP:0012759	Neurodevelopmental abnormality	2670	GFAP	OMIM:203450
HP:0012759	Neurodevelopmental abnormality	4718	NDUFC2	OMIM:619170
HP:0012759	Neurodevelopmental abnormality	3074	HEXB	ORPHA:309155
HP:0012759	Neurodevelopmental abnormality	3074	HEXB	OMIM:268800
HP:0012759	Neurodevelopmental abnormality	23250	ATP11A	OMIM:619851
HP:0012759	Neurodevelopmental abnormality	55037	PTCD3	OMIM:619057
HP:0012759	Neurodevelopmental abnormality	54675	CRLS1	OMIM:620167
HP:0012759	Neurodevelopmental abnormality	7274	TTPA	ORPHA:96
HP:0012759	Neurodevelopmental abnormality	1327	COX4I1	OMIM:619060
HP:0012759	Neurodevelopmental abnormality	388962	BOLA3	OMIM:614299
HP:0012759	Neurodevelopmental abnormality	84059	ADGRV1	ORPHA:36387
HP:0012759	Neurodevelopmental abnormality	1267	CNP	OMIM:619071
HP:0012759	Neurodevelopmental abnormality	8879	SGPL1	OMIM:617575
HP:0012759	Neurodevelopmental abnormality	8021	NUP214	OMIM:618426
HP:0012759	Neurodevelopmental abnormality	23236	PLCB1	ORPHA:3451
HP:0012759	Neurodevelopmental abnormality	23236	PLCB1	OMIM:613722
HP:0012759	Neurodevelopmental abnormality	3662	IRF4	ORPHA:3452
HP:0012759	Neurodevelopmental abnormality	55670	PEX26	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5824	PEX19	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	8504	PEX3	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5194	PEX13	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5195	PEX14	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	84833	ATP5MK	OMIM:618683
HP:0012759	Neurodevelopmental abnormality	1967	EIF2B1	OMIM:603896
HP:0012759	Neurodevelopmental abnormality	27247	NFU1	OMIM:605711
HP:0012759	Neurodevelopmental abnormality	7508	XPC	ORPHA:910
HP:0012759	Neurodevelopmental abnormality	1643	DDB2	ORPHA:910
HP:0012759	Neurodevelopmental abnormality	149233	IL23R	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	6775	STAT4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3586	IL10	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	4210	MEFV	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	1230	CCR1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	355	FAS	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3592	IL12A	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3106	HLA-B	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	7099	TLR4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3459	IFNGR1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	720	C4A	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	337867	UBAC2	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	51752	ERAP1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	8302	KLRC4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	959	CD40LG	OMIM:308230
HP:0012759	Neurodevelopmental abnormality	2560	GABRB1	OMIM:617153
HP:0012759	Neurodevelopmental abnormality	819	CAMLG	OMIM:620201
HP:0012759	Neurodevelopmental abnormality	2717	GLA	ORPHA:324
HP:0012759	Neurodevelopmental abnormality	81689	ISCA1	OMIM:617613
HP:0012759	Neurodevelopmental abnormality	7305	TYROBP	ORPHA:2770
HP:0012759	Neurodevelopmental abnormality	128240	NAXE	OMIM:617186
HP:0012759	Neurodevelopmental abnormality	2760	GM2A	ORPHA:309246
HP:0012759	Neurodevelopmental abnormality	7284	TUFM	OMIM:610678
HP:0012759	Neurodevelopmental abnormality	57107	PDSS2	ORPHA:255249
HP:0012759	Neurodevelopmental abnormality	200205	IBA57	OMIM:615330
HP:0012759	Neurodevelopmental abnormality	54936	ADPRS	OMIM:618170
HP:0012759	Neurodevelopmental abnormality	341208	HEPHL1	OMIM:261990
HP:0012759	Neurodevelopmental abnormality	25886	POC1A	OMIM:614813
HP:0012759	Neurodevelopmental abnormality	65055	REEP1	OMIM:620011
HP:0012759	Neurodevelopmental abnormality	25978	CHMP2B	OMIM:600795
HP:0012759	Neurodevelopmental abnormality	25978	CHMP2B	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	1540	CYLD	OMIM:619132
HP:0012759	Neurodevelopmental abnormality	5663	PSEN1	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	2896	GRN	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	54664	TMEM106B	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	8878	SQSTM1	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	8878	SQSTM1	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	4137	MAPT	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	54209	TREM2	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	7415	VCP	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	7415	VCP	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	7415	VCP	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	11284	PNKP	ORPHA:459033
HP:0012759	Neurodevelopmental abnormality	2521	FUS	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	23435	TARDBP	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	29110	TBK1	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	400916	CHCHD10	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	203228	C9orf72	OMIM:105550
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	OMIM:141500
HP:0012759	Neurodevelopmental abnormality	4131	MAP1B	OMIM:618918
HP:0012759	Neurodevelopmental abnormality	3178	HNRNPA1	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	8565	YARS1	OMIM:619418
HP:0012759	Neurodevelopmental abnormality	8869	ST3GAL5	OMIM:609056
HP:0012759	Neurodevelopmental abnormality	242	ALOX12B	OMIM:242100
HP:0012759	Neurodevelopmental abnormality	59344	ALOXE3	OMIM:242100
HP:0012759	Neurodevelopmental abnormality	26160	IFT172	OMIM:619471
HP:0012759	Neurodevelopmental abnormality	6638	SNRPN	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	6638	SNRPN	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	6638	SNRPN	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	ORPHA:398069
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	953	ENTPD1	ORPHA:401810
HP:0012759	Neurodevelopmental abnormality	6334	SCN8A	OMIM:614306
HP:0012759	Neurodevelopmental abnormality	6328	SCN3A	OMIM:617935
HP:0012759	Neurodevelopmental abnormality	10815	CPLX1	ORPHA:352582
HP:0012759	Neurodevelopmental abnormality	57465	TBC1D24	ORPHA:352582
HP:0012759	Neurodevelopmental abnormality	27286	SRPX2	ORPHA:1945
HP:0012759	Neurodevelopmental abnormality	2903	GRIN2A	ORPHA:1945
HP:0012759	Neurodevelopmental abnormality	2566	GABRG2	ORPHA:1945
HP:0012759	Neurodevelopmental abnormality	4796	TONSL	ORPHA:93357
HP:0012759	Neurodevelopmental abnormality	84197	POMK	OMIM:616094
HP:0012759	Neurodevelopmental abnormality	60684	TRAPPC11	ORPHA:369840
HP:0012759	Neurodevelopmental abnormality	7204	TRIO	ORPHA:476126
HP:0012759	Neurodevelopmental abnormality	10157	AASS	ORPHA:2203
HP:0012759	Neurodevelopmental abnormality	4893	NRAS	OMIM:613224
HP:0012759	Neurodevelopmental abnormality	55249	YY1AP1	ORPHA:79094
HP:0012759	Neurodevelopmental abnormality	318	NUDT2	OMIM:619844
HP:0012759	Neurodevelopmental abnormality	5010	CLDN11	OMIM:619328
HP:0012759	Neurodevelopmental abnormality	3778	KCNMA1	ORPHA:79137
HP:0012759	Neurodevelopmental abnormality	176	ACAN	ORPHA:435804
HP:0012759	Neurodevelopmental abnormality	6324	SCN1B	OMIM:617350
HP:0012759	Neurodevelopmental abnormality	25930	PTPN23	OMIM:618890
HP:0012759	Neurodevelopmental abnormality	55823	VPS11	OMIM:616683
HP:0012759	Neurodevelopmental abnormality	5430	POLR2A	OMIM:618603
HP:0012759	Neurodevelopmental abnormality	26227	PHGDH	ORPHA:79351
HP:0012759	Neurodevelopmental abnormality	57192	MCOLN1	ORPHA:578
HP:0012759	Neurodevelopmental abnormality	57192	MCOLN1	OMIM:252650
HP:0012759	Neurodevelopmental abnormality	8398	PLA2G6	ORPHA:199351
HP:0012759	Neurodevelopmental abnormality	2562	GABRB3	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	2554	GABRA1	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	8912	CACNA1H	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	8629	JRK	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	80207	OPA3	ORPHA:67036
HP:0012759	Neurodevelopmental abnormality	123606	NIPA1	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	7283	TUBG1	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	81614	NIPA2	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	6711	SPTBN1	OMIM:619475
HP:0012759	Neurodevelopmental abnormality	161582	DNAAF4	OMIM:127700
HP:0012759	Neurodevelopmental abnormality	6938	TCF12	OMIM:619718
HP:0012759	Neurodevelopmental abnormality	27072	VPS41	ORPHA:95434
HP:0012759	Neurodevelopmental abnormality	84978	FRMD5	OMIM:620094
HP:0012759	Neurodevelopmental abnormality	6786	STIM1	OMIM:185070
HP:0012759	Neurodevelopmental abnormality	2729	GCLC	ORPHA:33574
HP:0012759	Neurodevelopmental abnormality	6515	SLC2A3	ORPHA:399
HP:0012759	Neurodevelopmental abnormality	1802	DPH2	OMIM:620062
HP:0012759	Neurodevelopmental abnormality	11113	CIT	OMIM:617090
HP:0012759	Neurodevelopmental abnormality	50801	KCNK4	OMIM:618381
HP:0012759	Neurodevelopmental abnormality	253738	EBF3	OMIM:617330
HP:0012759	Neurodevelopmental abnormality	1186	CLCN7	OMIM:618541
HP:0012759	Neurodevelopmental abnormality	1182	CLCN3	OMIM:619512
HP:0012759	Neurodevelopmental abnormality	1182	CLCN3	OMIM:619517
HP:0012759	Neurodevelopmental abnormality	7862	BRPF1	OMIM:617333
HP:0012759	Neurodevelopmental abnormality	160418	TMTC3	OMIM:617255
HP:0012759	Neurodevelopmental abnormality	26053	AUTS2	OMIM:615834
HP:0012759	Neurodevelopmental abnormality	4774	NFIA	OMIM:613735
HP:0012759	Neurodevelopmental abnormality	5447	POR	ORPHA:95699
HP:0012759	Neurodevelopmental abnormality	1303	COL12A1	ORPHA:536516
HP:0012759	Neurodevelopmental abnormality	9871	SEC24D	OMIM:616294
HP:0012759	Neurodevelopmental abnormality	122553	TRAPPC6B	OMIM:617862
HP:0012759	Neurodevelopmental abnormality	116461	TSEN15	OMIM:617026
HP:0012759	Neurodevelopmental abnormality	10978	CLP1	ORPHA:411493
HP:0012759	Neurodevelopmental abnormality	2232	FDXR	ORPHA:543470
HP:0012759	Neurodevelopmental abnormality	23112	TNRC6B	OMIM:619243
HP:0012759	Neurodevelopmental abnormality	23030	KDM4B	OMIM:619320
HP:0012759	Neurodevelopmental abnormality	4849	CNOT3	OMIM:618672
HP:0012759	Neurodevelopmental abnormality	2890	GRIA1	OMIM:619927
HP:0012759	Neurodevelopmental abnormality	2890	GRIA1	OMIM:619931
HP:0012759	Neurodevelopmental abnormality	200424	TET3	OMIM:618798
HP:0012759	Neurodevelopmental abnormality	79971	WLS	OMIM:619648
HP:0012759	Neurodevelopmental abnormality	9562	MINPP1	OMIM:619527
HP:0012759	Neurodevelopmental abnormality	57231	SNX14	ORPHA:397709
HP:0012759	Neurodevelopmental abnormality	57231	SNX14	OMIM:616354
HP:0012759	Neurodevelopmental abnormality	8913	CACNA1G	OMIM:618087
HP:0012759	Neurodevelopmental abnormality	10381	TUBB3	ORPHA:300570
HP:0012759	Neurodevelopmental abnormality	1000	CDH2	OMIM:618929
HP:0012759	Neurodevelopmental abnormality	80856	LNPK	OMIM:618090
HP:0012759	Neurodevelopmental abnormality	9896	FIG4	ORPHA:208441
HP:0012759	Neurodevelopmental abnormality	8295	TRRAP	OMIM:618454
HP:0012759	Neurodevelopmental abnormality	51362	CDC40	OMIM:619302
HP:0012759	Neurodevelopmental abnormality	1496	CTNNA2	OMIM:618174
HP:0012759	Neurodevelopmental abnormality	3340	NDST1	OMIM:616116
HP:0012759	Neurodevelopmental abnormality	96459	FNIP1	OMIM:619705
HP:0012759	Neurodevelopmental abnormality	84148	KAT8	OMIM:618974
HP:0012759	Neurodevelopmental abnormality	5297	PI4KA	OMIM:619708
HP:0012759	Neurodevelopmental abnormality	7314	UBB	ORPHA:99772
HP:0012759	Neurodevelopmental abnormality	57822	GRHL3	ORPHA:99772
HP:0012759	Neurodevelopmental abnormality	93986	FOXP2	ORPHA:209908
HP:0012759	Neurodevelopmental abnormality	7840	ALMS1	ORPHA:64
HP:0012759	Neurodevelopmental abnormality	5058	PAK1	OMIM:618158
HP:0012759	Neurodevelopmental abnormality	27161	AGO2	OMIM:619149
HP:0012759	Neurodevelopmental abnormality	51	ACOX1	ORPHA:2971
HP:0012759	Neurodevelopmental abnormality	51	ACOX1	OMIM:264470
HP:0012759	Neurodevelopmental abnormality	2593	GAMT	ORPHA:382
HP:0012759	Neurodevelopmental abnormality	2593	GAMT	OMIM:612736
HP:0012759	Neurodevelopmental abnormality	166378	AFG2A	OMIM:616577
HP:0012759	Neurodevelopmental abnormality	10501	SEMA6B	OMIM:618876
HP:0012759	Neurodevelopmental abnormality	5189	PEX1	OMIM:214100
HP:0012759	Neurodevelopmental abnormality	2590	GALNT2	OMIM:618885
HP:0012759	Neurodevelopmental abnormality	818	CAMK2G	OMIM:618522
HP:0012759	Neurodevelopmental abnormality	3064	HTT	OMIM:617435
HP:0012759	Neurodevelopmental abnormality	7994	KAT6A	ORPHA:457193
HP:0012759	Neurodevelopmental abnormality	547	KIF1A	ORPHA:2836
HP:0012759	Neurodevelopmental abnormality	23096	IQSEC2	ORPHA:397933
HP:0012759	Neurodevelopmental abnormality	7469	NELFA	ORPHA:280
HP:0012759	Neurodevelopmental abnormality	3954	LETM1	ORPHA:280
HP:0012759	Neurodevelopmental abnormality	3954	LETM1	OMIM:194190
HP:0012759	Neurodevelopmental abnormality	7468	NSD2	ORPHA:280
HP:0012759	Neurodevelopmental abnormality	7468	NSD2	OMIM:194190
HP:0012759	Neurodevelopmental abnormality	1501	CTNND2	ORPHA:281
HP:0012759	Neurodevelopmental abnormality	9037	SEMA5A	ORPHA:281
HP:0012759	Neurodevelopmental abnormality	1482	NKX2-5	OMIM:225250
HP:0012759	Neurodevelopmental abnormality	1482	NKX2-5	ORPHA:95713
HP:0012759	Neurodevelopmental abnormality	1482	NKX2-5	ORPHA:95712
HP:0012759	Neurodevelopmental abnormality	4247	MGAT2	OMIM:212066
HP:0012759	Neurodevelopmental abnormality	5518	PPP2R1A	OMIM:616362
HP:0012759	Neurodevelopmental abnormality	29081	METTL5	OMIM:618665
HP:0012759	Neurodevelopmental abnormality	29081	METTL5	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	10717	AP4B1	OMIM:614066
HP:0012759	Neurodevelopmental abnormality	10717	AP4B1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	84879	MFSD2A	OMIM:616486
HP:0012759	Neurodevelopmental abnormality	84879	MFSD2A	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	11154	AP4S1	OMIM:614067
HP:0012759	Neurodevelopmental abnormality	11154	AP4S1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	55773	TBC1D23	OMIM:617695
HP:0012759	Neurodevelopmental abnormality	51633	OTUD6B	OMIM:617452
HP:0012759	Neurodevelopmental abnormality	51633	OTUD6B	ORPHA:505237
HP:0012759	Neurodevelopmental abnormality	27089	UQCRQ	OMIM:615159
HP:0012759	Neurodevelopmental abnormality	9354	UBE4A	OMIM:619639
HP:0012759	Neurodevelopmental abnormality	92609	TIMM50	OMIM:617698
HP:0012759	Neurodevelopmental abnormality	92609	TIMM50	ORPHA:505216
HP:0012759	Neurodevelopmental abnormality	6134	RPL10	ORPHA:459070
HP:0012759	Neurodevelopmental abnormality	2517	FUCA1	ORPHA:349
HP:0012759	Neurodevelopmental abnormality	54828	BCAS3	OMIM:619641
HP:0012759	Neurodevelopmental abnormality	3800	KIF5C	OMIM:615282
HP:0012759	Neurodevelopmental abnormality	2258	FGF13	OMIM:301095
HP:0012759	Neurodevelopmental abnormality	7030	TFE3	OMIM:301066
HP:0012759	Neurodevelopmental abnormality	197258	FCSK	OMIM:618324
HP:0012759	Neurodevelopmental abnormality	388662	SLC6A17	OMIM:616269
HP:0012759	Neurodevelopmental abnormality	388662	SLC6A17	ORPHA:457212
HP:0012759	Neurodevelopmental abnormality	23499	MACF1	OMIM:618325
HP:0012759	Neurodevelopmental abnormality	23499	MACF1	ORPHA:572013
HP:0012759	Neurodevelopmental abnormality	284111	SLC13A5	ORPHA:1946
HP:0012759	Neurodevelopmental abnormality	79641	ROGDI	ORPHA:1946
HP:0012759	Neurodevelopmental abnormality	79641	ROGDI	OMIM:226750
HP:0012759	Neurodevelopmental abnormality	9526	MPDU1	ORPHA:79323
HP:0012759	Neurodevelopmental abnormality	3756	KCNH1	OMIM:611816
HP:0012759	Neurodevelopmental abnormality	3756	KCNH1	OMIM:135500
HP:0012759	Neurodevelopmental abnormality	3756	KCNH1	ORPHA:420561
HP:0012759	Neurodevelopmental abnormality	26100	WIPI2	OMIM:618453
HP:0012759	Neurodevelopmental abnormality	1917	EEF1A2	OMIM:616393
HP:0012759	Neurodevelopmental abnormality	5881	RAC3	OMIM:618577
HP:0012759	Neurodevelopmental abnormality	22930	RAB3GAP1	OMIM:619420
HP:0012759	Neurodevelopmental abnormality	22930	RAB3GAP1	ORPHA:2510
HP:0012759	Neurodevelopmental abnormality	81603	TRIM8	OMIM:619428
HP:0012759	Neurodevelopmental abnormality	79944	L2HGDH	ORPHA:79314
HP:0012759	Neurodevelopmental abnormality	11160	ERLIN2	ORPHA:280384
HP:0012759	Neurodevelopmental abnormality	51574	LARP7	OMIM:615071
HP:0012759	Neurodevelopmental abnormality	51574	LARP7	ORPHA:319671
HP:0012759	Neurodevelopmental abnormality	57459	GATAD2B	OMIM:615074
HP:0012759	Neurodevelopmental abnormality	57459	GATAD2B	ORPHA:363686
HP:0012759	Neurodevelopmental abnormality	79876	UBA5	OMIM:617132
HP:0012759	Neurodevelopmental abnormality	2775	GNAO1	OMIM:617493
HP:0012759	Neurodevelopmental abnormality	56896	DPYSL5	OMIM:619435
HP:0012759	Neurodevelopmental abnormality	10564	ARFGEF2	OMIM:608097
HP:0012759	Neurodevelopmental abnormality	55628	ZNF407	OMIM:619557
HP:0012759	Neurodevelopmental abnormality	51412	ACTL6B	OMIM:618470
HP:0012759	Neurodevelopmental abnormality	79868	ALG13	OMIM:300884
HP:0012759	Neurodevelopmental abnormality	8492	PRSS12	OMIM:249500
HP:0012759	Neurodevelopmental abnormality	1760	DMPK	OMIM:160900
HP:0012759	Neurodevelopmental abnormality	9179	AP4M1	OMIM:612936
HP:0012759	Neurodevelopmental abnormality	9179	AP4M1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	387119	CEP85L	ORPHA:572013
HP:0012759	Neurodevelopmental abnormality	79709	COLGALT1	OMIM:618360
HP:0012759	Neurodevelopmental abnormality	8925	HERC1	ORPHA:457359
HP:0012759	Neurodevelopmental abnormality	23229	ARHGEF9	OMIM:300607
HP:0012759	Neurodevelopmental abnormality	6491	STIL	OMIM:612703
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	6821	SUOX	OMIM:272300
HP:0012759	Neurodevelopmental abnormality	6045	RNF2	OMIM:619460
HP:0012759	Neurodevelopmental abnormality	10524	KAT5	OMIM:619103
HP:0012759	Neurodevelopmental abnormality	2009	EML1	OMIM:600348
HP:0012759	Neurodevelopmental abnormality	3028	HSD17B10	ORPHA:391428
HP:0012759	Neurodevelopmental abnormality	5281	PIGF	OMIM:619356
HP:0012759	Neurodevelopmental abnormality	51604	PIGT	ORPHA:369837
HP:0012759	Neurodevelopmental abnormality	1528	CYB5A	ORPHA:621
HP:0012759	Neurodevelopmental abnormality	1727	CYB5R3	ORPHA:621
HP:0012759	Neurodevelopmental abnormality	57477	SHROOM4	ORPHA:85288
HP:0012759	Neurodevelopmental abnormality	197	AHSG	OMIM:203650
HP:0012759	Neurodevelopmental abnormality	84919	PPP1R15B	ORPHA:391408
HP:0012759	Neurodevelopmental abnormality	84919	PPP1R15B	OMIM:616817
HP:0012759	Neurodevelopmental abnormality	5264	PHYH	ORPHA:773
HP:0012759	Neurodevelopmental abnormality	5191	PEX7	ORPHA:773
HP:0012759	Neurodevelopmental abnormality	84295	PHF6	OMIM:301900
HP:0012759	Neurodevelopmental abnormality	1315	COPB1	OMIM:619255
HP:0012759	Neurodevelopmental abnormality	1968	EIF2S3	ORPHA:85282
HP:0012759	Neurodevelopmental abnormality	81615	TMEM163	OMIM:620243
HP:0012759	Neurodevelopmental abnormality	6326	SCN2A	OMIM:613721
HP:0012759	Neurodevelopmental abnormality	10134	BCAP31	OMIM:300475
HP:0012759	Neurodevelopmental abnormality	7355	SLC35A2	ORPHA:356961
HP:0012759	Neurodevelopmental abnormality	7109	TRAPPC10	OMIM:620027
HP:0012759	Neurodevelopmental abnormality	7109	TRAPPC10	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	10274	STAG1	ORPHA:502434
HP:0012759	Neurodevelopmental abnormality	23431	AP4E1	OMIM:613744
HP:0012759	Neurodevelopmental abnormality	23431	AP4E1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	2475	MTOR	ORPHA:99802
HP:0012759	Neurodevelopmental abnormality	10000	AKT3	ORPHA:99802
HP:0012759	Neurodevelopmental abnormality	1509	CTSD	OMIM:610127
HP:0012759	Neurodevelopmental abnormality	894	CCND2	OMIM:615938
HP:0012759	Neurodevelopmental abnormality	10716	TBR1	OMIM:606053
HP:0012759	Neurodevelopmental abnormality	815	CAMK2A	OMIM:618095
HP:0012759	Neurodevelopmental abnormality	776	CACNA1D	ORPHA:369929
HP:0012759	Neurodevelopmental abnormality	51199	NIN	OMIM:614851
HP:0012759	Neurodevelopmental abnormality	51199	NIN	ORPHA:319675
HP:0012759	Neurodevelopmental abnormality	26005	C2CD3	OMIM:615948
HP:0012759	Neurodevelopmental abnormality	53834	FGFRL1	OMIM:194190
HP:0012759	Neurodevelopmental abnormality	383	ARG1	ORPHA:90
HP:0012759	Neurodevelopmental abnormality	3192	HNRNPU	ORPHA:238769
HP:0012759	Neurodevelopmental abnormality	10841	FTCD	ORPHA:51208
HP:0012759	Neurodevelopmental abnormality	5063	PAK3	OMIM:300558
HP:0012759	Neurodevelopmental abnormality	55343	SLC35C1	OMIM:266265
HP:0012759	Neurodevelopmental abnormality	55343	SLC35C1	ORPHA:99843
HP:0012759	Neurodevelopmental abnormality	5700	PSMC1	OMIM:620071
HP:0012759	Neurodevelopmental abnormality	79228	THOC6	ORPHA:363444
HP:0012759	Neurodevelopmental abnormality	10472	ZBTB18	OMIM:612337
HP:0012759	Neurodevelopmental abnormality	54862	CC2D1A	OMIM:608443
HP:0012759	Neurodevelopmental abnormality	3187	HNRNPH1	OMIM:620083
HP:0012759	Neurodevelopmental abnormality	9342	SNAP29	OMIM:609528
HP:0012759	Neurodevelopmental abnormality	55084	SOBP	OMIM:613671
HP:0012759	Neurodevelopmental abnormality	546	ATRX	OMIM:309580
HP:0012759	Neurodevelopmental abnormality	9928	KIF14	OMIM:617914
HP:0012759	Neurodevelopmental abnormality	9928	KIF14	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	5830	PEX5	OMIM:616716
HP:0012759	Neurodevelopmental abnormality	124997	WDR81	OMIM:610185
HP:0012759	Neurodevelopmental abnormality	65062	TMEM237	OMIM:614424
HP:0012759	Neurodevelopmental abnormality	8050	PDHX	ORPHA:255182
HP:0012759	Neurodevelopmental abnormality	9662	CEP135	OMIM:614673
HP:0012759	Neurodevelopmental abnormality	9662	CEP135	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	91869	RFT1	OMIM:612015
HP:0012759	Neurodevelopmental abnormality	50	ACO2	OMIM:614559
HP:0012759	Neurodevelopmental abnormality	5053	PAH	ORPHA:79254
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95720
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95713
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95712
HP:0012759	Neurodevelopmental abnormality	5172	SLC26A4	ORPHA:95720
HP:0012759	Neurodevelopmental abnormality	5172	SLC26A4	ORPHA:95713
HP:0012759	Neurodevelopmental abnormality	23732	FRRS1L	OMIM:616981
HP:0012759	Neurodevelopmental abnormality	63035	BCORL1	OMIM:301029
HP:0012759	Neurodevelopmental abnormality	2304	FOXE1	ORPHA:95713
HP:0012759	Neurodevelopmental abnormality	4915	NTRK2	OMIM:617830
HP:0012759	Neurodevelopmental abnormality	9378	NRXN1	OMIM:614325
HP:0012759	Neurodevelopmental abnormality	83696	TRAPPC9	ORPHA:352530
HP:0012759	Neurodevelopmental abnormality	55969	RAB5IF	OMIM:616994
HP:0012759	Neurodevelopmental abnormality	760	CA2	ORPHA:2785
HP:0012759	Neurodevelopmental abnormality	23476	BRD4	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	9126	SMC3	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	25836	NIPBL	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	55869	HDAC8	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	5885	RAD21	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	81562	LMAN2L	OMIM:616887
HP:0012759	Neurodevelopmental abnormality	3747	KCNC2	OMIM:619913
HP:0012759	Neurodevelopmental abnormality	163786	SASS6	OMIM:616402
HP:0012759	Neurodevelopmental abnormality	163786	SASS6	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	64857	PLEKHG2	OMIM:616763
HP:0012759	Neurodevelopmental abnormality	9894	TELO2	ORPHA:488642
HP:0012759	Neurodevelopmental abnormality	8936	WASF1	OMIM:618707
HP:0012759	Neurodevelopmental abnormality	23630	KCNE5	ORPHA:86818
HP:0012759	Neurodevelopmental abnormality	2182	ACSL4	ORPHA:86818
HP:0012759	Neurodevelopmental abnormality	9949	AMMECR1	ORPHA:86818
HP:0012759	Neurodevelopmental abnormality	55691	FRMD4A	ORPHA:466688
HP:0012759	Neurodevelopmental abnormality	80704	SLC19A3	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	91942	NDUFAF2	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4723	NDUFV1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	55572	FOXRED1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4729	NDUFV2	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	51204	TACO1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4724	NDUFS4	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4728	NDUFS8	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	137682	NDUFAF6	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4722	NDUFS3	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	100131801	PET100	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	1355	COX15	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	1892	ECHS1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	123263	MTFMT	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	51079	NDUFA13	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	374291	NDUFS7	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4705	NDUFA10	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	51601	LIPT1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4719	NDUFS1	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4695	NDUFA2	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	4704	NDUFA9	ORPHA:255241
HP:0012759	Neurodevelopmental abnormality	7991	TUSC3	OMIM:611093
HP:0012759	Neurodevelopmental abnormality	2806	GOT2	OMIM:618721
HP:0012759	Neurodevelopmental abnormality	57731	SPTBN4	OMIM:617519
HP:0012759	Neurodevelopmental abnormality	79583	TMEM231	ORPHA:2752
HP:0012759	Neurodevelopmental abnormality	9276	COPB2	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	22995	CEP152	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	55262	TRAPPC14	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	29920	PYCR2	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	4176	MCM7	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	80254	CEP63	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	23310	NCAPD3	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	79648	MCPH1	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	23141	ANKLE2	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	1911	PHC1	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	57082	KNL1	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	51075	TMX2	OMIM:618730
HP:0012759	Neurodevelopmental abnormality	55331	ACER3	OMIM:617762
HP:0012759	Neurodevelopmental abnormality	2036	EPB41L1	OMIM:614257
HP:0012759	Neurodevelopmental abnormality	6909	TBX2	OMIM:618223
HP:0012759	Neurodevelopmental abnormality	4952	OCRL	OMIM:300555
HP:0012759	Neurodevelopmental abnormality	6495	SIX1	OMIM:113650
HP:0012759	Neurodevelopmental abnormality	55526	DHTKD1	OMIM:204750
HP:0012759	Neurodevelopmental abnormality	5332	PLCB4	OMIM:614669
HP:0012759	Neurodevelopmental abnormality	10992	SF3B2	OMIM:164210
HP:0012759	Neurodevelopmental abnormality	8659	ALDH4A1	ORPHA:79101
HP:0012759	Neurodevelopmental abnormality	4173	MCM4	OMIM:609981
HP:0012759	Neurodevelopmental abnormality	9227	LRAT	ORPHA:364055
HP:0012759	Neurodevelopmental abnormality	55812	SPATA7	ORPHA:364055
HP:0012759	Neurodevelopmental abnormality	6121	RPE65	ORPHA:364055
HP:0012759	Neurodevelopmental abnormality	167691	LCA5	ORPHA:364055
HP:0012759	Neurodevelopmental abnormality	80232	WDR26	ORPHA:513456
HP:0012759	Neurodevelopmental abnormality	213	ALB	ORPHA:86816
HP:0012759	Neurodevelopmental abnormality	5932	RBBP8	OMIM:606744
HP:0012759	Neurodevelopmental abnormality	5932	RBBP8	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	51163	DBR1	OMIM:619441
HP:0012759	Neurodevelopmental abnormality	5184	PEPD	OMIM:170100
HP:0012759	Neurodevelopmental abnormality	338657	CENATAC	OMIM:620153
HP:0012759	Neurodevelopmental abnormality	3376	IARS1	ORPHA:541423
HP:0012759	Neurodevelopmental abnormality	545	ATR	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	1062	CENPE	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	5116	PCNT	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	79902	NUP85	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	84126	ATRIP	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	10293	TRAIP	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	10733	PLK4	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	5257	PHKB	ORPHA:79240
HP:0012759	Neurodevelopmental abnormality	256297	PTF1A	OMIM:615935
HP:0012759	Neurodevelopmental abnormality	54704	PDP1	ORPHA:79246
HP:0012759	Neurodevelopmental abnormality	4566	MT-TK	ORPHA:1349
HP:0012759	Neurodevelopmental abnormality	506	ATP5F1B	OMIM:620085
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	ORPHA:2710
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	OMIM:257850
HP:0012759	Neurodevelopmental abnormality	1513	CTSK	ORPHA:763
HP:0012759	Neurodevelopmental abnormality	56160	NSMCE3	OMIM:617241
HP:0012759	Neurodevelopmental abnormality	5442	POLRMT	OMIM:619743
HP:0012759	Neurodevelopmental abnormality	7156	TOP3A	OMIM:618097
HP:0012759	Neurodevelopmental abnormality	2783	GNB2	OMIM:619503
HP:0012759	Neurodevelopmental abnormality	5573	PRKAR1A	OMIM:101800
HP:0012759	Neurodevelopmental abnormality	165918	RNF168	OMIM:611943
HP:0012759	Neurodevelopmental abnormality	990	CDC6	OMIM:613805
HP:0012759	Neurodevelopmental abnormality	27034	ACAD8	ORPHA:79159
HP:0012759	Neurodevelopmental abnormality	9131	AIFM1	ORPHA:238329
HP:0012759	Neurodevelopmental abnormality	10265	IRX5	OMIM:611174
HP:0012759	Neurodevelopmental abnormality	5702	PSMC3	OMIM:619354
HP:0012759	Neurodevelopmental abnormality	3034	HAL	ORPHA:2157
HP:0012759	Neurodevelopmental abnormality	7174	TPP2	ORPHA:444463
HP:0012759	Neurodevelopmental abnormality	128989	TANGO2	ORPHA:480864
HP:0012759	Neurodevelopmental abnormality	9496	TBX4	ORPHA:261279
HP:0012759	Neurodevelopmental abnormality	54790	TET2	OMIM:619126
HP:0012759	Neurodevelopmental abnormality	6662	SOX9	OMIM:114290
HP:0012759	Neurodevelopmental abnormality	497661	C18orf32	OMIM:619985
HP:0012759	Neurodevelopmental abnormality	8550	MAPKAPK5	OMIM:619869
HP:0012759	Neurodevelopmental abnormality	2752	GLUL	OMIM:610015
HP:0012759	Neurodevelopmental abnormality	149371	EXOC8	OMIM:619076
HP:0012759	Neurodevelopmental abnormality	79753	SNIP1	OMIM:614501
HP:0012759	Neurodevelopmental abnormality	3170	FOXA2	ORPHA:95494
HP:0012759	Neurodevelopmental abnormality	10436	EMG1	ORPHA:1270
HP:0012759	Neurodevelopmental abnormality	55770	EXOC2	OMIM:619306
HP:0012759	Neurodevelopmental abnormality	55610	VPS50	OMIM:619685
HP:0012759	Neurodevelopmental abnormality	8882	ZPR1	OMIM:619321
HP:0012759	Neurodevelopmental abnormality	79068	FTO	OMIM:612938
HP:0012759	Neurodevelopmental abnormality	63925	ZNF335	OMIM:615095
HP:0012759	Neurodevelopmental abnormality	91647	ATPAF2	OMIM:604273
HP:0012759	Neurodevelopmental abnormality	60386	SLC25A19	ORPHA:99742
HP:0012759	Neurodevelopmental abnormality	8943	AP3D1	OMIM:617050
HP:0012759	Neurodevelopmental abnormality	4576	MT-TT	ORPHA:254857
HP:0012759	Neurodevelopmental abnormality	5167	ENPP1	ORPHA:51608
HP:0012759	Neurodevelopmental abnormality	368	ABCC6	ORPHA:51608
HP:0012759	Neurodevelopmental abnormality	5331	PLCB3	OMIM:618961
HP:0012759	Neurodevelopmental abnormality	91949	COG7	OMIM:608779
HP:0012759	Neurodevelopmental abnormality	116115	ZNF526	OMIM:619877
HP:0012759	Neurodevelopmental abnormality	2222	FDFT1	OMIM:618156
HP:0012759	Neurodevelopmental abnormality	5859	QARS1	OMIM:615760
HP:0012759	Neurodevelopmental abnormality	440	ASNS	OMIM:615574
HP:0012759	Neurodevelopmental abnormality	9570	GOSR2	OMIM:620166
HP:0012759	Neurodevelopmental abnormality	667	DST	OMIM:614653
HP:0012759	Neurodevelopmental abnormality	9419	CRIPT	OMIM:615789
HP:0012759	Neurodevelopmental abnormality	10804	GJB6	ORPHA:477
HP:0012759	Neurodevelopmental abnormality	2706	GJB2	ORPHA:477
HP:0012759	Neurodevelopmental abnormality	5626	PROP1	ORPHA:226307
HP:0012759	Neurodevelopmental abnormality	131405	TRIM71	OMIM:618667
HP:0012759	Neurodevelopmental abnormality	84570	COL25A1	ORPHA:91411
HP:0012759	Neurodevelopmental abnormality	79776	ZFHX4	ORPHA:91411
HP:0012759	Neurodevelopmental abnormality	84548	TMEM185A	ORPHA:100974
HP:0012759	Neurodevelopmental abnormality	346171	ZFP57	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	57061	HYMAI	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	5325	PLAGL1	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	8813	DPM1	ORPHA:79322
HP:0012759	Neurodevelopmental abnormality	7201	TRHR	ORPHA:99832
HP:0012759	Neurodevelopmental abnormality	6135	RPL11	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6138	RPL15	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6229	RPS24	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6125	RPL5	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6204	RPS10	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6232	RPS27	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6231	RPS26	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	11224	RPL35	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6160	RPL31	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6218	RPS17	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6201	RPS7	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6155	RPL27	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6154	RPL26	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6210	RPS15A	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	90121	TSR2	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6141	RPL18	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6235	RPS29	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6927	HNF1A	ORPHA:324575
HP:0012759	Neurodevelopmental abnormality	9636	ISG15	OMIM:616126
HP:0012759	Neurodevelopmental abnormality	7381	UQCRB	OMIM:615158
HP:0012759	Neurodevelopmental abnormality	7351	UCP2	ORPHA:276556
HP:0012759	Neurodevelopmental abnormality	339983	NAT8L	OMIM:614063
HP:0012759	Neurodevelopmental abnormality	340533	NEXMIF	OMIM:300912
HP:0012759	Neurodevelopmental abnormality	51728	POLR3K	OMIM:619310
HP:0012759	Neurodevelopmental abnormality	7701	ZNF142	OMIM:618425
HP:0012759	Neurodevelopmental abnormality	3098	HK1	OMIM:618547
HP:0012759	Neurodevelopmental abnormality	22859	ADGRL1	OMIM:620065
HP:0012759	Neurodevelopmental abnormality	3020	H3-3A	OMIM:619720
HP:0012759	Neurodevelopmental abnormality	7358	UGDH	OMIM:618792
HP:0012759	Neurodevelopmental abnormality	91875	TTC5	OMIM:619244
HP:0012759	Neurodevelopmental abnormality	2904	GRIN2B	OMIM:616139
HP:0012759	Neurodevelopmental abnormality	28960	DCPS	OMIM:616459
HP:0012759	Neurodevelopmental abnormality	64221	ROBO3	OMIM:607313
HP:0012759	Neurodevelopmental abnormality	23387	SIK3	OMIM:618162
HP:0012759	Neurodevelopmental abnormality	4677	NARS1	OMIM:619091
HP:0012759	Neurodevelopmental abnormality	4677	NARS1	OMIM:619092
HP:0012759	Neurodevelopmental abnormality	57020	VPS35L	OMIM:619135
HP:0012759	Neurodevelopmental abnormality	129685	TAF8	OMIM:619972
HP:0012759	Neurodevelopmental abnormality	8120	AP3B2	OMIM:617276
HP:0012759	Neurodevelopmental abnormality	738	VPS51	OMIM:618606
HP:0012759	Neurodevelopmental abnormality	2770	GNAI1	OMIM:619854
HP:0012759	Neurodevelopmental abnormality	51608	GET4	OMIM:620200
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	OMIM:249000
HP:0012759	Neurodevelopmental abnormality	8665	EIF3F	OMIM:618295
HP:0012759	Neurodevelopmental abnormality	4761	NEUROD2	OMIM:618374
HP:0012759	Neurodevelopmental abnormality	5833	PCYT2	OMIM:618770
HP:0012759	Neurodevelopmental abnormality	1140	CHRNB1	OMIM:616313
HP:0012759	Neurodevelopmental abnormality	23321	TRIM2	OMIM:615490
HP:0012759	Neurodevelopmental abnormality	88	ACTN2	OMIM:618654
HP:0012759	Neurodevelopmental abnormality	1576	CYP3A4	OMIM:619073
HP:0012759	Neurodevelopmental abnormality	5251	PHEX	ORPHA:89936
HP:0012759	Neurodevelopmental abnormality	57863	CADM3	OMIM:619519
HP:0012759	Neurodevelopmental abnormality	1650	DDOST	OMIM:614507
HP:0012759	Neurodevelopmental abnormality	10280	SIGMAR1	ORPHA:300605
HP:0012759	Neurodevelopmental abnormality	10558	SPTLC1	ORPHA:300605
HP:0012759	Neurodevelopmental abnormality	9474	ATG5	OMIM:617584
HP:0012759	Neurodevelopmental abnormality	79879	CCDC134	OMIM:619795
HP:0012759	Neurodevelopmental abnormality	5351	PLOD1	OMIM:225400
HP:0012759	Neurodevelopmental abnormality	23114	NFASC	OMIM:618356
HP:0012759	Neurodevelopmental abnormality	267010	RNU12	OMIM:620208
HP:0012759	Neurodevelopmental abnormality	10342	TFG	OMIM:615658
HP:0012759	Neurodevelopmental abnormality	1073	CFL2	OMIM:610687
HP:0012759	Neurodevelopmental abnormality	22868	FASTKD2	OMIM:618855
HP:0012759	Neurodevelopmental abnormality	57128	LYRM4	OMIM:615595
HP:0012759	Neurodevelopmental abnormality	7317	UBA1	OMIM:301830
HP:0012759	Neurodevelopmental abnormality	1352	COX10	OMIM:619046
HP:0012759	Neurodevelopmental abnormality	871	SERPINH1	OMIM:613848
HP:0012759	Neurodevelopmental abnormality	90522	YIF1B	OMIM:619125
HP:0012759	Neurodevelopmental abnormality	8604	SLC25A12	OMIM:612949
HP:0012759	Neurodevelopmental abnormality	79991	STN1	OMIM:617341
HP:0012759	Neurodevelopmental abnormality	5934	RBL2	OMIM:619690
HP:0012759	Neurodevelopmental abnormality	3097	HIVEP2	OMIM:616977
HP:0012759	Neurodevelopmental abnormality	4191	MDH2	OMIM:617339
HP:0012759	Neurodevelopmental abnormality	6651	SON	OMIM:617140
HP:0012759	Neurodevelopmental abnormality	10659	CELF2	OMIM:619561
HP:0009700	Finger symphalangism	3549	IHH	OMIM:112500
HP:0009700	Finger symphalangism	3549	IHH	ORPHA:93388
HP:0009700	Finger symphalangism	658	BMPR1B	ORPHA:93388
HP:0009700	Finger symphalangism	9791	PTDSS1	OMIM:151050
HP:0009700	Finger symphalangism	9241	NOG	OMIM:611377
HP:0009700	Finger symphalangism	9241	NOG	OMIM:186570
HP:0009700	Finger symphalangism	9241	NOG	OMIM:185800
HP:0009700	Finger symphalangism	22856	CHSY1	ORPHA:363417
HP:0009700	Finger symphalangism	4920	ROR2	OMIM:268310
HP:0009700	Finger symphalangism	727857	BHLHA9	OMIM:609432
HP:0009700	Finger symphalangism	7021	TFAP2B	OMIM:169100
HP:0009700	Finger symphalangism	10084	PQBP1	OMIM:309500
HP:0009700	Finger symphalangism	4841	NONO	OMIM:300967
HP:0009700	Finger symphalangism	9401	RECQL4	ORPHA:221016
HP:0009700	Finger symphalangism	8200	GDF5	OMIM:610017
HP:0009700	Finger symphalangism	64682	ANAPC1	ORPHA:221008
HP:0009702	Carpal synostosis	538	ATP7A	OMIM:304150
HP:0009702	Carpal synostosis	2317	FLNB	OMIM:272460
HP:0009702	Carpal synostosis	54928	BPNT2	OMIM:614078
HP:0009702	Carpal synostosis	2261	FGFR3	OMIM:602849
HP:0009702	Carpal synostosis	8200	GDF5	ORPHA:2639
HP:0009702	Carpal synostosis	8200	GDF5	ORPHA:2098
HP:0009702	Carpal synostosis	8200	GDF5	ORPHA:3250
HP:0009702	Carpal synostosis	658	BMPR1B	ORPHA:2639
HP:0009702	Carpal synostosis	658	BMPR1B	ORPHA:2098
HP:0009702	Carpal synostosis	64359	NXN	ORPHA:1507
HP:0009702	Carpal synostosis	4920	ROR2	ORPHA:1507
HP:0009702	Carpal synostosis	64327	LMBR1	ORPHA:988
HP:0009702	Carpal synostosis	6469	SHH	ORPHA:988
HP:0009702	Carpal synostosis	157570	ESCO2	ORPHA:3103
HP:0009702	Carpal synostosis	3209	HOXA13	ORPHA:2438
HP:0009702	Carpal synostosis	64093	SMOC1	ORPHA:1106
HP:0009702	Carpal synostosis	5566	PRKACA	ORPHA:289
HP:0009702	Carpal synostosis	5567	PRKACB	ORPHA:289
HP:0009702	Carpal synostosis	2735	GLI1	ORPHA:289
HP:0009702	Carpal synostosis	2121	EVC	ORPHA:289
HP:0009702	Carpal synostosis	51626	DYNC2LI1	ORPHA:289
HP:0009702	Carpal synostosis	132884	EVC2	ORPHA:289
HP:0009702	Carpal synostosis	727857	BHLHA9	ORPHA:157801
HP:0009702	Carpal synostosis	9241	NOG	ORPHA:3250
HP:0009702	Carpal synostosis	9241	NOG	ORPHA:140908
HP:0009702	Carpal synostosis	9555	MACROH2A1	ORPHA:1275
HP:0009702	Carpal synostosis	5307	PITX1	ORPHA:1275
HP:0009702	Carpal synostosis	57167	SALL4	ORPHA:2307
HP:0009702	Carpal synostosis	4038	LRP4	ORPHA:3258
HP:0009702	Carpal synostosis	324	APC	ORPHA:3258
HP:0009702	Carpal synostosis	5077	PAX3	ORPHA:896
HP:0009702	Carpal synostosis	2263	FGFR2	OMIM:101200
HP:0009702	Carpal synostosis	6885	MAP3K7	ORPHA:3238
HP:0009702	Carpal synostosis	2316	FLNA	OMIM:305620
HP:0009702	Carpal synostosis	4621	MYH3	OMIM:178110
HP:0009702	Carpal synostosis	5447	POR	OMIM:201750
HP:0009702	Carpal synostosis	85301	COL27A1	OMIM:615155
HP:0009702	Carpal synostosis	9939	RBM8A	OMIM:274000
HP:0009702	Carpal synostosis	22856	CHSY1	OMIM:605282
HP:0009702	Carpal synostosis	9401	RECQL4	OMIM:218600
HP:0009702	Carpal synostosis	3239	HOXD13	OMIM:186300
HP:0009702	Carpal synostosis	2192	FBLN1	OMIM:608180
HP:0009702	Carpal synostosis	126792	B3GALT6	OMIM:615349
HP:0009702	Carpal synostosis	126792	B3GALT6	OMIM:271640
HP:0009703	Synostosis involving the 1st metacarpal	10084	PQBP1	OMIM:309500
HP:0009703	Synostosis involving the 1st metacarpal	4841	NONO	OMIM:300967
HP:0009704	Chronic CSF lymphocytosis	11277	TREX1	OMIM:225750
HP:0009704	Chronic CSF lymphocytosis	11277	TREX1	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	10535	RNASEH2A	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	84153	RNASEH2C	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	25939	SAMHD1	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	79621	RNASEH2B	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	79621	RNASEH2B	OMIM:610181
HP:0009704	Chronic CSF lymphocytosis	103	ADAR	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	100147744	RNU7-1	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	134353	LSM11	ORPHA:51
HP:0009704	Chronic CSF lymphocytosis	64135	IFIH1	ORPHA:51
HP:0002540	Inability to walk	773	CACNA1A	OMIM:183086
HP:0002540	Inability to walk	4099	MAG	OMIM:616680
HP:0002540	Inability to walk	92935	MARS2	OMIM:611390
HP:0002540	Inability to walk	3094	HINT1	ORPHA:324442
HP:0002540	Inability to walk	1144	CHRND	OMIM:616321
HP:0002540	Inability to walk	2132	EXT2	OMIM:616682
HP:0002540	Inability to walk	4137	MAPT	ORPHA:240094
HP:0002540	Inability to walk	50484	RRM2B	ORPHA:329336
HP:0002540	Inability to walk	246243	RNASEH1	ORPHA:329336
HP:0002540	Inability to walk	246243	RNASEH1	OMIM:616479
HP:0002540	Inability to walk	2066	ERBB4	OMIM:615515
HP:0002540	Inability to walk	53616	ADAM22	OMIM:617933
HP:0002540	Inability to walk	7415	VCP	OMIM:167320
HP:0002540	Inability to walk	4758	NEU1	ORPHA:93399
HP:0002540	Inability to walk	10049	DNAJB6	OMIM:603511
HP:0002540	Inability to walk	10049	DNAJB6	ORPHA:34516
HP:0002540	Inability to walk	5339	PLEC	ORPHA:254361
HP:0002540	Inability to walk	5660	PSAP	OMIM:249900
HP:0002540	Inability to walk	2581	GALC	ORPHA:206443
HP:0002540	Inability to walk	3714	JAG2	OMIM:619566
HP:0002540	Inability to walk	729920	CRPPA	OMIM:616052
HP:0002540	Inability to walk	729920	CRPPA	ORPHA:352479
HP:0002540	Inability to walk	6443	SGCB	OMIM:604286
HP:0002540	Inability to walk	5189	PEX1	OMIM:214100
HP:0002540	Inability to walk	25778	DSTYK	OMIM:270750
HP:0002540	Inability to walk	343641	TGM6	OMIM:613908
HP:0002540	Inability to walk	79147	FKRP	ORPHA:370968
HP:0002540	Inability to walk	9215	LARGE1	ORPHA:370968
HP:0002540	Inability to walk	57190	SELENON	OMIM:602771
HP:0002540	Inability to walk	27235	COQ2	OMIM:607426
HP:0002540	Inability to walk	64601	VPS16	OMIM:619291
HP:0002540	Inability to walk	84340	GFM2	ORPHA:565624
HP:0002540	Inability to walk	8888	MCM3AP	OMIM:618124
HP:0002540	Inability to walk	7345	UCHL1	OMIM:615491
HP:0002540	Inability to walk	103	ADAR	OMIM:615010
HP:0002540	Inability to walk	103	ADAR	ORPHA:225154
HP:0002540	Inability to walk	64207	IRF2BPL	OMIM:618088
HP:0002540	Inability to walk	22954	TRIM32	OMIM:254110
HP:0002540	Inability to walk	4358	MPV17	OMIM:256810
HP:0002540	Inability to walk	2058	EPRS1	OMIM:617951
HP:0002540	Inability to walk	55157	DARS2	ORPHA:137898
HP:0002540	Inability to walk	4625	MYH7	OMIM:255160
HP:0002540	Inability to walk	1201	CLN3	ORPHA:228346
HP:0002540	Inability to walk	1201	CLN3	OMIM:204200
HP:0002540	Inability to walk	6445	SGCG	OMIM:253700
HP:0002540	Inability to walk	2010	EMD	OMIM:310300
HP:0002540	Inability to walk	9570	GOSR2	OMIM:620166
HP:0002540	Inability to walk	9570	GOSR2	OMIM:614018
HP:0002540	Inability to walk	9217	VAPB	OMIM:608627
HP:0002540	Inability to walk	9217	VAPB	OMIM:182980
HP:0002540	Inability to walk	51102	MECR	OMIM:617282
HP:0002540	Inability to walk	79152	FA2H	ORPHA:329308
HP:0002540	Inability to walk	83636	C19orf12	OMIM:614298
HP:0002540	Inability to walk	83636	C19orf12	OMIM:615043
HP:0002540	Inability to walk	4700	NDUFA6	OMIM:618253
HP:0002540	Inability to walk	4041	LRP5	ORPHA:2788
HP:0002540	Inability to walk	3178	HNRNPA1	OMIM:615424
HP:0002540	Inability to walk	60	ACTB	OMIM:607371
HP:0002540	Inability to walk	23230	VPS13A	ORPHA:2388
HP:0002540	Inability to walk	54840	APTX	OMIM:208920
HP:0002540	Inability to walk	8398	PLA2G6	OMIM:612953
HP:0002540	Inability to walk	84668	HYCC1	OMIM:610532
HP:0002540	Inability to walk	10755	GIPC1	ORPHA:98897
HP:0002540	Inability to walk	100996717	NOTCH2NLC	ORPHA:98897
HP:0002540	Inability to walk	3028	HSD17B10	ORPHA:391428
HP:0002540	Inability to walk	55697	VAC14	OMIM:617054
HP:0002540	Inability to walk	11154	AP4S1	OMIM:614067
HP:0002540	Inability to walk	9453	GGPS1	OMIM:619518
HP:0002540	Inability to walk	90624	LYRM7	OMIM:615838
HP:0002540	Inability to walk	6606	SMN1	OMIM:253400
HP:0002540	Inability to walk	6607	SMN2	OMIM:253400
HP:0002540	Inability to walk	6305	SBF1	OMIM:615284
HP:0002540	Inability to walk	55958	KLHL9	ORPHA:399081
HP:0002540	Inability to walk	2273	FHL1	OMIM:300717
HP:0002540	Inability to walk	219285	SAMD9L	OMIM:619806
HP:0002540	Inability to walk	9409	PEX16	OMIM:614877
HP:0002540	Inability to walk	11149	BVES	OMIM:616812
HP:0002540	Inability to walk	11155	LDB3	ORPHA:98912
HP:0002540	Inability to walk	10667	FARS2	ORPHA:466722
HP:0002540	Inability to walk	56652	TWNK	OMIM:271245
HP:0002540	Inability to walk	4508	MT-ATP6	ORPHA:225154
HP:0002540	Inability to walk	23636	NUP62	ORPHA:225154
HP:0002540	Inability to walk	6389	SDHA	ORPHA:3208
HP:0002540	Inability to walk	6390	SDHB	ORPHA:3208
HP:0002540	Inability to walk	6392	SDHD	ORPHA:3208
HP:0002540	Inability to walk	644096	SDHAF1	ORPHA:3208
HP:0002540	Inability to walk	1674	DES	ORPHA:98909
HP:0002540	Inability to walk	10133	OPTN	OMIM:613435
HP:0002540	Inability to walk	1384	CRAT	OMIM:617917
HP:0002540	Inability to walk	85021	REPS1	OMIM:617916
HP:0002540	Inability to walk	3954	LETM1	OMIM:620089
HP:0002540	Inability to walk	5832	ALDH18A1	ORPHA:447757
HP:0002540	Inability to walk	3098	HK1	ORPHA:99953
HP:0002540	Inability to walk	57716	PRX	OMIM:614895
HP:0002540	Inability to walk	6622	SNCA	OMIM:168601
HP:0002540	Inability to walk	55703	POLR3B	OMIM:607694
HP:0002540	Inability to walk	11128	POLR3A	OMIM:607694
HP:0002540	Inability to walk	2137	EXTL3	ORPHA:508533
HP:0002540	Inability to walk	3064	HTT	ORPHA:399
HP:0002540	Inability to walk	6515	SLC2A3	ORPHA:399
HP:0002540	Inability to walk	4359	MPZ	OMIM:618184
HP:0002540	Inability to walk	158	ADSL	OMIM:103050
HP:0002540	Inability to walk	91574	MTRFR	ORPHA:254930
HP:0002540	Inability to walk	29925	GMPPB	OMIM:615350
HP:0002540	Inability to walk	2775	GNAO1	OMIM:615473
HP:0002540	Inability to walk	60684	TRAPPC11	OMIM:615356
HP:0002540	Inability to walk	7355	SLC35A2	ORPHA:356961
HP:0002540	Inability to walk	9254	CACNA2D2	OMIM:618501
HP:0002540	Inability to walk	4747	NEFL	ORPHA:99939
HP:0002540	Inability to walk	4747	NEFL	ORPHA:101085
HP:0002540	Inability to walk	1119	CHKA	OMIM:620023
HP:0002540	Inability to walk	10159	ATP6AP2	ORPHA:93952
HP:0002540	Inability to walk	9499	MYOT	ORPHA:266
HP:0002540	Inability to walk	3190	HNRNPK	ORPHA:453504
HP:0002540	Inability to walk	3190	HNRNPK	ORPHA:352665
HP:0002540	Inability to walk	8291	DYSF	ORPHA:268
HP:0002540	Inability to walk	65993	MRPS34	OMIM:617664
HP:0002540	Inability to walk	80816	ASXL3	OMIM:615485
HP:0002540	Inability to walk	80816	ASXL3	ORPHA:352577
HP:0002540	Inability to walk	2782	GNB1	ORPHA:488613
HP:0002540	Inability to walk	2782	GNB1	OMIM:616973
HP:0002540	Inability to walk	6487	ST3GAL3	OMIM:615006
HP:0002540	Inability to walk	4010	LMX1B	ORPHA:495818
HP:0002540	Inability to walk	6812	STXBP1	ORPHA:495818
HP:0002540	Inability to walk	166378	AFG2A	OMIM:616577
HP:0002540	Inability to walk	65082	VPS33A	OMIM:617303
HP:0002540	Inability to walk	65082	VPS33A	ORPHA:505248
HP:0002540	Inability to walk	472	ATM	OMIM:208900
HP:0002540	Inability to walk	5610	EIF2AK2	OMIM:618877
HP:0002540	Inability to walk	2911	GRM1	OMIM:614831
HP:0002540	Inability to walk	5689	PSMB1	OMIM:620038
HP:0002540	Inability to walk	28960	DCPS	OMIM:616459
HP:0002540	Inability to walk	23431	AP4E1	OMIM:613744
HP:0002540	Inability to walk	55768	NGLY1	ORPHA:404454
HP:0002540	Inability to walk	3908	LAMA2	ORPHA:258
HP:0002540	Inability to walk	23321	TRIM2	OMIM:615490
HP:0002540	Inability to walk	55154	MSTO1	OMIM:617675
HP:0002540	Inability to walk	8913	CACNA1G	OMIM:618087
HP:0002540	Inability to walk	215	ABCD1	ORPHA:139396
HP:0002540	Inability to walk	7343	UBTF	OMIM:617672
HP:0002540	Inability to walk	7343	UBTF	ORPHA:500180
HP:0002540	Inability to walk	6844	VAMP2	OMIM:618760
HP:0002540	Inability to walk	816	CAMK2B	OMIM:617799
HP:0002540	Inability to walk	7084	TK2	OMIM:609560
HP:0002540	Inability to walk	1759	DNM1	OMIM:616346
HP:0002540	Inability to walk	10381	TUBB3	ORPHA:300570
HP:0002540	Inability to walk	81857	MED25	ORPHA:464738
HP:0002540	Inability to walk	170825	GSX2	OMIM:618646
HP:0002540	Inability to walk	7920	ABHD16A	OMIM:619735
HP:0002540	Inability to walk	85465	SELENOI	OMIM:618768
HP:0002540	Inability to walk	10716	TBR1	OMIM:606053
HP:0002540	Inability to walk	1130	LYST	ORPHA:167
HP:0002540	Inability to walk	815	CAMK2A	OMIM:618095
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280210
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280234
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280229
HP:0002540	Inability to walk	5354	PLP1	OMIM:312080
HP:0002540	Inability to walk	80856	LNPK	OMIM:618090
HP:0002540	Inability to walk	171023	ASXL1	ORPHA:97297
HP:0002540	Inability to walk	9839	ZEB2	ORPHA:261552
HP:0002540	Inability to walk	9839	ZEB2	ORPHA:261537
HP:0002540	Inability to walk	22872	SEC31A	OMIM:618651
HP:0002540	Inability to walk	1193	CLIC2	ORPHA:324410
HP:0002540	Inability to walk	57231	SNX14	OMIM:616354
HP:0002540	Inability to walk	84314	TMEM107	OMIM:617563
HP:0002540	Inability to walk	80208	SPG11	ORPHA:2822
HP:0002540	Inability to walk	80208	SPG11	ORPHA:300605
HP:0002540	Inability to walk	79583	TMEM231	OMIM:614970
HP:0002540	Inability to walk	51761	ATP8A2	OMIM:615268
HP:0002540	Inability to walk	93627	TBCK	ORPHA:488632
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93926
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93924
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93925
HP:0002540	Inability to walk	28514	DLL1	ORPHA:220386
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93926
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93924
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93925
HP:0002540	Inability to walk	2253	FGF8	ORPHA:220386
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93926
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93924
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93925
HP:0002540	Inability to walk	6496	SIX3	ORPHA:220386
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93926
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93924
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93925
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:220386
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93926
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93924
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93925
HP:0002540	Inability to walk	4838	NODAL	ORPHA:220386
HP:0002540	Inability to walk	6469	SHH	ORPHA:93926
HP:0002540	Inability to walk	6469	SHH	ORPHA:93924
HP:0002540	Inability to walk	6469	SHH	ORPHA:93925
HP:0002540	Inability to walk	6469	SHH	ORPHA:220386
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93926
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93924
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93925
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:220386
HP:0002540	Inability to walk	6491	STIL	ORPHA:93926
HP:0002540	Inability to walk	6491	STIL	ORPHA:93924
HP:0002540	Inability to walk	6491	STIL	ORPHA:93925
HP:0002540	Inability to walk	6491	STIL	ORPHA:220386
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93926
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93924
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93925
HP:0002540	Inability to walk	2619	GAS1	ORPHA:220386
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93926
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93924
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93925
HP:0002540	Inability to walk	84976	DISP1	ORPHA:220386
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93926
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93924
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93925
HP:0002540	Inability to walk	2736	GLI2	ORPHA:220386
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93926
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93924
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93925
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:220386
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93926
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93924
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93925
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:220386
HP:0002540	Inability to walk	50937	CDON	ORPHA:93926
HP:0002540	Inability to walk	50937	CDON	ORPHA:93924
HP:0002540	Inability to walk	50937	CDON	ORPHA:93925
HP:0002540	Inability to walk	50937	CDON	ORPHA:220386
HP:0002540	Inability to walk	5376	PMP22	ORPHA:90658
HP:0002540	Inability to walk	2260	FGFR1	ORPHA:93924
HP:0002540	Inability to walk	2260	FGFR1	ORPHA:220386
HP:0002540	Inability to walk	11160	ERLIN2	OMIM:611225
HP:0002540	Inability to walk	11160	ERLIN2	ORPHA:209951
HP:0002540	Inability to walk	23007	PLCH1	ORPHA:93925
HP:0002540	Inability to walk	10735	STAG2	ORPHA:93925
HP:0002540	Inability to walk	10735	STAG2	ORPHA:220386
HP:0002540	Inability to walk	84947	SERAC1	OMIM:614739
HP:0002540	Inability to walk	2395	FXN	ORPHA:95
HP:0002540	Inability to walk	10558	SPTLC1	ORPHA:36386
HP:0002540	Inability to walk	10558	SPTLC1	ORPHA:300605
HP:0002540	Inability to walk	25923	ATL3	ORPHA:36386
HP:0002540	Inability to walk	9517	SPTLC2	ORPHA:36386
HP:0002540	Inability to walk	51062	ATL1	ORPHA:36386
HP:0002540	Inability to walk	4534	MTM1	ORPHA:596
HP:0002540	Inability to walk	1798	DPAGT1	ORPHA:86309
HP:0002540	Inability to walk	6792	CDKL5	OMIM:300672
HP:0002540	Inability to walk	6792	CDKL5	ORPHA:3095
HP:0002540	Inability to walk	5518	PPP2R1A	OMIM:616362
HP:0002540	Inability to walk	10717	AP4B1	OMIM:614066
HP:0002540	Inability to walk	388662	SLC6A17	ORPHA:457212
HP:0002540	Inability to walk	388662	SLC6A17	OMIM:616269
HP:0002540	Inability to walk	84879	MFSD2A	OMIM:616486
HP:0002540	Inability to walk	55773	TBC1D23	OMIM:617695
HP:0002540	Inability to walk	51633	OTUD6B	OMIM:617452
HP:0002540	Inability to walk	51633	OTUD6B	ORPHA:505237
HP:0002540	Inability to walk	27089	UQCRQ	OMIM:615159
HP:0002540	Inability to walk	9354	UBE4A	OMIM:619639
HP:0002540	Inability to walk	116115	ZNF526	OMIM:619877
HP:0002540	Inability to walk	285175	UNC80	OMIM:616801
HP:0002540	Inability to walk	4191	MDH2	OMIM:617339
HP:0002540	Inability to walk	6134	RPL10	ORPHA:459070
HP:0002540	Inability to walk	23345	SYNE1	ORPHA:319332
HP:0002540	Inability to walk	93210	PGAP3	OMIM:615716
HP:0002540	Inability to walk	64837	KLC2	OMIM:609541
HP:0002540	Inability to walk	80704	SLC19A3	OMIM:607483
HP:0002540	Inability to walk	83475	DOHH	OMIM:620066
HP:0002540	Inability to walk	6609	SMPD1	OMIM:257200
HP:0002540	Inability to walk	3766	KCNJ10	ORPHA:199343
HP:0002540	Inability to walk	5700	PSMC1	OMIM:620071
HP:0002540	Inability to walk	2521	FUS	ORPHA:300605
HP:0002540	Inability to walk	10280	SIGMAR1	ORPHA:300605
HP:0002540	Inability to walk	57679	ALS2	ORPHA:300605
HP:0002540	Inability to walk	54828	BCAS3	OMIM:619641
HP:0002540	Inability to walk	9276	COPB2	OMIM:619884
HP:0002540	Inability to walk	10991	SLC38A3	OMIM:619881
HP:0002540	Inability to walk	6506	SLC1A2	OMIM:617105
HP:0002540	Inability to walk	10342	TFG	ORPHA:90117
HP:0002540	Inability to walk	10342	TFG	ORPHA:431329
HP:0002540	Inability to walk	2555	GABRA2	OMIM:618557
HP:0002540	Inability to walk	9568	GABBR2	OMIM:617904
HP:0002540	Inability to walk	9568	GABBR2	ORPHA:3095
HP:0002540	Inability to walk	3187	HNRNPH1	OMIM:620083
HP:0002540	Inability to walk	427	ASAH1	ORPHA:2590
HP:0002540	Inability to walk	7143	TNR	OMIM:619653
HP:0002540	Inability to walk	23162	MAPK8IP3	OMIM:618443
HP:0002540	Inability to walk	197258	FCSK	OMIM:618324
HP:0002540	Inability to walk	51227	PIGP	OMIM:617599
HP:0002540	Inability to walk	3785	KCNQ2	ORPHA:439218
HP:0002540	Inability to walk	50628	GEMIN4	OMIM:617913
HP:0002540	Inability to walk	122622	ADSS1	ORPHA:482601
HP:0002540	Inability to walk	2055	CLN8	ORPHA:1947
HP:0002540	Inability to walk	64116	SLC39A8	ORPHA:468699
HP:0002540	Inability to walk	64116	SLC39A8	OMIM:616721
HP:0002540	Inability to walk	81846	SBF2	ORPHA:99956
HP:0002540	Inability to walk	1487	CTBP1	OMIM:617915
HP:0002540	Inability to walk	4556	MT-TE	ORPHA:2596
HP:0002540	Inability to walk	10397	NDRG1	ORPHA:99950
HP:0002540	Inability to walk	58497	PRUNE1	OMIM:617481
HP:0002540	Inability to walk	58497	PRUNE1	ORPHA:544469
HP:0002540	Inability to walk	80025	PANK2	ORPHA:216866
HP:0002540	Inability to walk	26173	INTS1	OMIM:618571
HP:0002540	Inability to walk	55656	INTS8	OMIM:618572
HP:0002540	Inability to walk	51693	TRAPPC2L	OMIM:618331
HP:0002540	Inability to walk	4208	MEF2C	OMIM:613443
HP:0002540	Inability to walk	5813	PURA	OMIM:616158
HP:0002540	Inability to walk	22907	DHX30	OMIM:617804
HP:0002540	Inability to walk	54332	GDAP1	ORPHA:99948
HP:0002540	Inability to walk	79628	SH3TC2	ORPHA:99949
HP:0002540	Inability to walk	7407	VARS1	OMIM:617802
HP:0002540	Inability to walk	400916	CHCHD10	ORPHA:276435
HP:0002540	Inability to walk	6857	SYT1	OMIM:618218
HP:0002540	Inability to walk	10695	CNPY3	OMIM:617929
HP:0002540	Inability to walk	4000	LMNA	ORPHA:98856
HP:0002540	Inability to walk	1861	TOR1A	OMIM:128100
HP:0002540	Inability to walk	54808	DYM	ORPHA:239
HP:0002540	Inability to walk	1203	CLN5	ORPHA:228360
HP:0002540	Inability to walk	55906	ZC4H2	OMIM:301041
HP:0002540	Inability to walk	10059	DNM1L	ORPHA:330050
HP:0002540	Inability to walk	30000	TNPO2	OMIM:619556
HP:0002540	Inability to walk	23516	SLC39A14	OMIM:617013
HP:0002540	Inability to walk	8733	GPAA1	OMIM:617810
HP:0002540	Inability to walk	51412	ACTL6B	OMIM:618468
HP:0002540	Inability to walk	51412	ACTL6B	OMIM:618470
HP:0002540	Inability to walk	6323	SCN1A	OMIM:619317
HP:0002540	Inability to walk	4703	NEB	OMIM:256030
HP:0002540	Inability to walk	6328	SCN3A	OMIM:617938
HP:0002540	Inability to walk	22854	NTNG1	ORPHA:3095
HP:0002540	Inability to walk	4204	MECP2	ORPHA:3095
HP:0002540	Inability to walk	4204	MECP2	ORPHA:778
HP:0002540	Inability to walk	4204	MECP2	OMIM:300260
HP:0002540	Inability to walk	8243	SMC1A	ORPHA:3095
HP:0002540	Inability to walk	8243	SMC1A	ORPHA:220386
HP:0002540	Inability to walk	6567	SLC16A2	OMIM:300523
HP:0002540	Inability to walk	11277	TREX1	OMIM:225750
HP:0002540	Inability to walk	116461	TSEN15	OMIM:617026
HP:0002540	Inability to walk	10659	CELF2	OMIM:619561
HP:0002540	Inability to walk	63895	PIEZO2	OMIM:617146
HP:0002540	Inability to walk	2902	GRIN1	OMIM:617820
HP:0002540	Inability to walk	2902	GRIN1	OMIM:614254
HP:0002540	Inability to walk	22880	MORC2	ORPHA:466768
HP:0002540	Inability to walk	5010	CLDN11	OMIM:619328
HP:0002540	Inability to walk	6513	SLC2A1	OMIM:608885
HP:0002540	Inability to walk	2561	GABRB2	OMIM:617829
HP:0002540	Inability to walk	443	ASPA	ORPHA:314911
HP:0002540	Inability to walk	2891	GRIA2	OMIM:618917
HP:0002540	Inability to walk	79158	GNPTAB	ORPHA:576
HP:0002540	Inability to walk	25929	GEMIN5	OMIM:619333
HP:0002540	Inability to walk	56915	EXOSC5	OMIM:619576
HP:0002540	Inability to walk	23221	RHOBTB2	OMIM:618004
HP:0002540	Inability to walk	55572	FOXRED1	OMIM:618241
HP:0002540	Inability to walk	9512	PMPCB	OMIM:617954
HP:0002540	Inability to walk	4915	NTRK2	OMIM:617830
HP:0002540	Inability to walk	7965	AIMP2	OMIM:618006
HP:0002540	Inability to walk	27315	PGAP2	OMIM:614207
HP:0002540	Inability to walk	29920	PYCR2	ORPHA:481152
HP:0002540	Inability to walk	29920	PYCR2	OMIM:616420
HP:0002540	Inability to walk	9361	LONP1	ORPHA:79243
HP:0002540	Inability to walk	5160	PDHA1	ORPHA:79243
HP:0002540	Inability to walk	2898	GRIK2	OMIM:619580
HP:0002540	Inability to walk	1781	DYNC1I2	OMIM:618492
HP:0002540	Inability to walk	774	CACNA1B	OMIM:618497
HP:0002540	Inability to walk	84188	FAR1	ORPHA:438178
HP:0002540	Inability to walk	54681	P4HTM	OMIM:618493
HP:0002540	Inability to walk	1822	ATN1	OMIM:618494
HP:0002540	Inability to walk	4761	NEUROD2	OMIM:618374
HP:0002540	Inability to walk	523	ATP6V1A	OMIM:618012
HP:0002540	Inability to walk	2257	FGF12	OMIM:617166
HP:0002540	Inability to walk	128637	TBC1D20	OMIM:615663
HP:0002540	Inability to walk	6304	SATB1	OMIM:619229
HP:0002540	Inability to walk	54551	MAGEL2	OMIM:615547
HP:0002540	Inability to walk	57531	HACE1	OMIM:616756
HP:0002540	Inability to walk	6611	SMS	ORPHA:3063
HP:0002540	Inability to walk	94005	PIGS	OMIM:618143
HP:0002540	Inability to walk	57468	SLC12A5	OMIM:616645
HP:0002540	Inability to walk	10815	CPLX1	OMIM:617976
HP:0002540	Inability to walk	1213	CLTC	OMIM:617854
HP:0002540	Inability to walk	22931	RAB18	OMIM:614222
HP:0002540	Inability to walk	2318	FLNC	ORPHA:63273
HP:0002540	Inability to walk	9894	TELO2	ORPHA:488642
HP:0002540	Inability to walk	85440	DOCK7	ORPHA:411986
HP:0002540	Inability to walk	56270	WDR45B	OMIM:617977
HP:0002540	Inability to walk	246329	STAC3	ORPHA:168572
HP:0002540	Inability to walk	378884	NHLRC1	ORPHA:501
HP:0002540	Inability to walk	7957	EPM2A	ORPHA:501
HP:0002540	Inability to walk	10128	LRPPRC	ORPHA:70472
HP:0002540	Inability to walk	9829	DNAJC6	ORPHA:391411
HP:0002540	Inability to walk	5420	PODXL	ORPHA:391411
HP:0002540	Inability to walk	8867	SYNJ1	ORPHA:391411
HP:0002540	Inability to walk	55210	ATAD3A	OMIM:617183
HP:0002540	Inability to walk	26503	SLC17A5	OMIM:604369
HP:0002540	Inability to walk	9325	TRIP4	OMIM:617066
HP:0002540	Inability to walk	291	SLC25A4	OMIM:617184
HP:0002540	Inability to walk	22983	MAST1	OMIM:618273
HP:0002540	Inability to walk	23287	AGTPBP1	OMIM:618276
HP:0002540	Inability to walk	79143	MBOAT7	OMIM:617188
HP:0002540	Inability to walk	92335	STRADA	OMIM:611087
HP:0002540	Inability to walk	1806	DPYD	ORPHA:1675
HP:0002540	Inability to walk	2893	GRIA4	OMIM:617864
HP:0002540	Inability to walk	23204	ARL6IP1	OMIM:615685
HP:0002540	Inability to walk	6509	SLC1A4	OMIM:616657
HP:0002540	Inability to walk	54676	GTPBP2	OMIM:617988
HP:0002540	Inability to walk	8911	CACNA1I	OMIM:620114
HP:0002540	Inability to walk	84628	NTNG2	OMIM:618718
HP:0002540	Inability to walk	6904	TBCD	OMIM:617193
HP:0002540	Inability to walk	777	CACNA1E	OMIM:618285
HP:0002540	Inability to walk	9197	SLC33A1	OMIM:614482
HP:0002540	Inability to walk	1315	COPB1	OMIM:619255
HP:0002540	Inability to walk	29954	POMT2	OMIM:613156
HP:0002540	Inability to walk	29954	POMT2	ORPHA:206559
HP:0002540	Inability to walk	10585	POMT1	OMIM:613155
HP:0002540	Inability to walk	2733	GLE1	OMIM:611890
HP:0002540	Inability to walk	738	VPS51	OMIM:618606
HP:0002540	Inability to walk	2806	GOT2	OMIM:618721
HP:0002540	Inability to walk	1678	TIMM8A	ORPHA:52368
HP:0002540	Inability to walk	129285	PPP1R21	OMIM:619383
HP:0002540	Inability to walk	27072	VPS41	OMIM:619389
HP:0002540	Inability to walk	1968	EIF2S3	OMIM:300148
HP:0002540	Inability to walk	56947	MFF	OMIM:617086
HP:0002540	Inability to walk	1496	CTNNA2	OMIM:618174
HP:0002540	Inability to walk	8803	SUCLA2	OMIM:612073
HP:0002540	Inability to walk	547	KIF1A	OMIM:614255
HP:0002540	Inability to walk	55753	OGDHL	OMIM:619701
HP:0002540	Inability to walk	9935	MAFB	OMIM:166300
HP:0002540	Inability to walk	1756	DMD	ORPHA:206546
HP:0002540	Inability to walk	9990	SLC12A6	OMIM:218000
HP:0002540	Inability to walk	10479	SLC9A6	OMIM:300243
HP:0002540	Inability to walk	80036	TRPM3	OMIM:620224
HP:0002540	Inability to walk	9927	MFN2	ORPHA:99947
HP:0002540	Inability to walk	51218	GLRX5	ORPHA:401866
HP:0011448	Ankle clonus	11160	ERLIN2	ORPHA:280384
HP:0011448	Ankle clonus	11160	ERLIN2	ORPHA:209951
HP:0011448	Ankle clonus	11160	ERLIN2	OMIM:611225
HP:0011448	Ankle clonus	85465	SELENOI	ORPHA:506353
HP:0011448	Ankle clonus	85465	SELENOI	OMIM:618768
HP:0011448	Ankle clonus	51062	ATL1	ORPHA:100984
HP:0011448	Ankle clonus	23111	SPART	OMIM:275900
HP:0011448	Ankle clonus	23111	SPART	ORPHA:101000
HP:0011448	Ankle clonus	4728	NDUFS8	OMIM:618222
HP:0011448	Ankle clonus	55697	VAC14	OMIM:617054
HP:0011448	Ankle clonus	56006	SMG9	OMIM:619995
HP:0011448	Ankle clonus	10159	ATP6AP2	ORPHA:363654
HP:0011448	Ankle clonus	6683	SPAST	ORPHA:100985
HP:0011448	Ankle clonus	51604	PIGT	OMIM:615398
HP:0011448	Ankle clonus	9420	CYP7B1	ORPHA:100986
HP:0011448	Ankle clonus	23516	SLC39A14	OMIM:617013
HP:0011448	Ankle clonus	23516	SLC39A14	ORPHA:521406
HP:0011448	Ankle clonus	23345	SYNE1	ORPHA:88644
HP:0011448	Ankle clonus	22931	RAB18	OMIM:614222
HP:0011448	Ankle clonus	1593	CYP27A1	OMIM:213700
HP:0011448	Ankle clonus	3839	KPNA3	OMIM:620106
HP:0011448	Ankle clonus	959	CD40LG	OMIM:308230
HP:0011448	Ankle clonus	64837	KLC2	OMIM:609541
HP:0011448	Ankle clonus	2258	FGF13	OMIM:301058
HP:0011448	Ankle clonus	440193	CCDC88C	OMIM:616053
HP:0011448	Ankle clonus	6647	SOD1	OMIM:618598
HP:0011448	Ankle clonus	6253	RTN2	OMIM:604805
HP:0011448	Ankle clonus	84340	GFM2	OMIM:618397
HP:0011448	Ankle clonus	84340	GFM2	ORPHA:565624
HP:0011448	Ankle clonus	79152	FA2H	ORPHA:171629
HP:0011448	Ankle clonus	79152	FA2H	OMIM:612319
HP:0011448	Ankle clonus	10273	STUB1	OMIM:615768
HP:0011448	Ankle clonus	10273	STUB1	ORPHA:412057
HP:0011448	Ankle clonus	9409	PEX16	OMIM:614877
HP:0011448	Ankle clonus	6509	SLC1A4	OMIM:616657
HP:0011448	Ankle clonus	547	KIF1A	OMIM:610357
HP:0011448	Ankle clonus	9338	TCEAL1	OMIM:301094
HP:0011448	Ankle clonus	80208	SPG11	OMIM:604360
HP:0011448	Ankle clonus	5456	POU3F4	ORPHA:1435
HP:0011448	Ankle clonus	55129	ANO10	ORPHA:284289
HP:0011448	Ankle clonus	16	AARS1	OMIM:619691
HP:0011448	Ankle clonus	219285	SAMD9L	OMIM:159550
HP:0011448	Ankle clonus	9289	ADGRG1	OMIM:606854
HP:0011448	Ankle clonus	7345	UCHL1	OMIM:615491
HP:0011448	Ankle clonus	215	ABCD1	ORPHA:139396
HP:0011448	Ankle clonus	3064	HTT	OMIM:617435
HP:0011448	Ankle clonus	118813	ZFYVE27	OMIM:610244
HP:0011448	Ankle clonus	7415	VCP	OMIM:613954
HP:0011448	Ankle clonus	57704	GBA2	OMIM:614409
HP:0011448	Ankle clonus	2581	GALC	ORPHA:206436
HP:0011448	Ankle clonus	5660	PSAP	ORPHA:206436
HP:0011448	Ankle clonus	1678	TIMM8A	ORPHA:52368
HP:0011448	Ankle clonus	6567	SLC16A2	ORPHA:59
HP:0011448	Ankle clonus	6712	SPTBN2	OMIM:600224
HP:0011448	Ankle clonus	3798	KIF5A	ORPHA:100991
HP:0011448	Ankle clonus	3798	KIF5A	OMIM:604187
HP:0011448	Ankle clonus	823	CAPN1	ORPHA:488594
HP:0011448	Ankle clonus	5297	PI4KA	OMIM:619621
HP:0011448	Ankle clonus	833	CARS1	OMIM:618891
HP:0011448	Ankle clonus	65055	REEP1	OMIM:610250
HP:0011448	Ankle clonus	10749	KIF1C	OMIM:611302
HP:0011448	Ankle clonus	8398	PLA2G6	OMIM:612953
HP:0011448	Ankle clonus	113278	SLC52A3	OMIM:211530
HP:0002542	Olivopontocerebellar atrophy	54902	TTC19	OMIM:615157
HP:0002542	Olivopontocerebellar atrophy	51360	MBTPS2	OMIM:308205
HP:0002542	Olivopontocerebellar atrophy	2074	ERCC6	OMIM:278800
HP:0002542	Olivopontocerebellar atrophy	27235	COQ2	OMIM:146500
HP:0002542	Olivopontocerebellar atrophy	6310	ATXN1	OMIM:164400
HP:0002542	Olivopontocerebellar atrophy	6314	ATXN7	OMIM:164500
HP:0002542	Olivopontocerebellar atrophy	6311	ATXN2	OMIM:183090
HP:0002544	Retrocollis	57679	ALS2	OMIM:205100
HP:0002544	Retrocollis	57679	ALS2	ORPHA:300605
HP:0002544	Retrocollis	8575	PRKRA	OMIM:612067
HP:0002544	Retrocollis	2521	FUS	ORPHA:300605
HP:0002544	Retrocollis	80208	SPG11	ORPHA:300605
HP:0002544	Retrocollis	10280	SIGMAR1	ORPHA:300605
HP:0002544	Retrocollis	10558	SPTLC1	ORPHA:300605
HP:0002544	Retrocollis	4137	MAPT	OMIM:601104
HP:0002544	Retrocollis	9757	KMT2B	OMIM:617284
HP:0002545	Patchy demyelination of subcortical white matter	2074	ERCC6	OMIM:133540
HP:0002545	Patchy demyelination of subcortical white matter	2074	ERCC6	ORPHA:90322
HP:0002545	Patchy demyelination of subcortical white matter	1161	ERCC8	OMIM:216400
HP:0002545	Patchy demyelination of subcortical white matter	1161	ERCC8	ORPHA:90322
HP:0002545	Patchy demyelination of subcortical white matter	2067	ERCC1	ORPHA:90322
HP:0002546	Incomprehensible speech	57459	GATAD2B	ORPHA:363686
HP:0002546	Incomprehensible speech	27286	SRPX2	ORPHA:163721
HP:0002546	Incomprehensible speech	2903	GRIN2A	ORPHA:163721
HP:0002546	Incomprehensible speech	23314	SATB2	ORPHA:251019
HP:0002546	Incomprehensible speech	10730	YME1L1	OMIM:617302
HP:0002546	Incomprehensible speech	93986	FOXP2	ORPHA:209908
HP:0002546	Incomprehensible speech	93986	FOXP2	OMIM:602081
HP:0002546	Incomprehensible speech	26040	SETBP1	ORPHA:436151
HP:0002546	Incomprehensible speech	54862	CC2D1A	OMIM:608443
HP:0002546	Incomprehensible speech	2395	FXN	ORPHA:95
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5660	PSAP	OMIM:619491
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7054	TH	OMIM:605407
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	10846	PDE10A	ORPHA:494541
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	2643	GCH1	OMIM:128230
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	26058	GIGYF2	OMIM:607688
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	26058	GIGYF2	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	8398	PLA2G6	ORPHA:199351
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7384	UQCRC1	OMIM:619279
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240071
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240085
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240103
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	120892	LRRK2	OMIM:607060
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	120892	LRRK2	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	2629	GBA1	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23317	DNAJC13	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1981	EIF4G1	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	55737	VPS35	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6622	SNCA	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	116442	RAB39B	OMIM:311510
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6872	TAF1	ORPHA:53351
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6872	TAF1	OMIM:314250
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23400	ATP13A2	OMIM:606693
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23400	ATP13A2	ORPHA:314632
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5428	POLG	OMIM:157640
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5428	POLG	ORPHA:254886
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	11315	PARK7	OMIM:606324
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7084	TK2	ORPHA:254886
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	25793	FBXO7	OMIM:260300
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	51142	CHCHD2	OMIM:616710
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	27429	HTRA2	OMIM:610297
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7345	UCHL1	OMIM:613643
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	540	ATP7B	OMIM:277900
HP:0002549	Deficit in phonologic short-term memory	50484	RRM2B	ORPHA:329336
HP:0002549	Deficit in phonologic short-term memory	246243	RNASEH1	ORPHA:329336
HP:0002549	Deficit in phonologic short-term memory	5621	PRNP	ORPHA:280397
HP:0002549	Deficit in phonologic short-term memory	4137	MAPT	ORPHA:240112
HP:0002549	Deficit in phonologic short-term memory	2934	GSN	ORPHA:85448
HP:0012760	Reduced social reciprocity	404672	GTF2H5	ORPHA:33364
HP:0012760	Reduced social reciprocity	833	CARS1	ORPHA:33364
HP:0012760	Reduced social reciprocity	2068	ERCC2	ORPHA:33364
HP:0012760	Reduced social reciprocity	7737	RNF113A	ORPHA:33364
HP:0012760	Reduced social reciprocity	136647	MPLKIP	ORPHA:33364
HP:0012760	Reduced social reciprocity	6897	TARS1	ORPHA:33364
HP:0012760	Reduced social reciprocity	2071	ERCC3	ORPHA:33364
HP:0012760	Reduced social reciprocity	2961	GTF2E2	ORPHA:33364
HP:0012763	Paroxysmal dyspnea	4629	MYH11	ORPHA:229
HP:0012763	Paroxysmal dyspnea	4629	MYH11	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7046	TGFBR1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7048	TGFBR2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4015	LOX	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4087	SMAD2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7043	TGFB3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4088	SMAD3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7042	TGFB2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4089	SMAD4	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2200	FBN1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	59	ACTA2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	5592	PRKG1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2301	FOXE3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4144	MAT2A	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	23493	HEY2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	8076	MFAP5	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4638	MYLK	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2006	ELN	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	84705	GTPBP3	ORPHA:444013
HP:0012764	Orthopnea	7092	TLL1	ORPHA:99103
HP:0012764	Orthopnea	57057	TBX20	ORPHA:99103
HP:0012764	Orthopnea	4624	MYH6	ORPHA:99103
HP:0012764	Orthopnea	1482	NKX2-5	ORPHA:99103
HP:0012764	Orthopnea	70	ACTC1	ORPHA:99103
HP:0012764	Orthopnea	10370	CITED2	ORPHA:99103
HP:0012764	Orthopnea	2626	GATA4	ORPHA:99103
HP:0012764	Orthopnea	2627	GATA6	ORPHA:99103
HP:0012764	Orthopnea	1410	CRYAB	OMIM:608810
HP:0012764	Orthopnea	7273	TTN	ORPHA:178464
HP:0012764	Orthopnea	84665	MYPN	ORPHA:75249
HP:0012764	Orthopnea	2318	FLNC	ORPHA:75249
HP:0012764	Orthopnea	7139	TNNT2	ORPHA:75249
HP:0012764	Orthopnea	7137	TNNI3	ORPHA:75249
HP:0012764	Orthopnea	10112	KIF20A	ORPHA:75249
HP:0012764	Orthopnea	6329	SCN4A	ORPHA:98913
HP:0012764	Orthopnea	1134	CHRNA1	ORPHA:98913
HP:0012764	Orthopnea	4038	LRP4	ORPHA:98913
HP:0012764	Orthopnea	1305	COL13A1	ORPHA:98913
HP:0012764	Orthopnea	1140	CHRNB1	ORPHA:98913
HP:0012764	Orthopnea	1144	CHRND	ORPHA:98913
HP:0012764	Orthopnea	1145	CHRNE	ORPHA:98913
HP:0012764	Orthopnea	4593	MUSK	ORPHA:98913
HP:0012764	Orthopnea	5913	RAPSN	ORPHA:98913
HP:0012764	Orthopnea	375790	AGRN	ORPHA:98913
HP:0012764	Orthopnea	221264	AK9	ORPHA:98913
HP:0012764	Orthopnea	285489	DOK7	ORPHA:98913
HP:0012764	Orthopnea	51778	MYOZ2	OMIM:613838
HP:0012765	Widened cerebellar subarachnoid space	283989	TSEN54	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	116461	TSEN15	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	79042	TSEN34	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	80746	TSEN2	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	51091	SEPSECS	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	64802	NMNAT1	OMIM:619260
HP:0012766	Widened cerebral subarachnoid space	1107	CHD3	OMIM:618205
HP:0012766	Widened cerebral subarachnoid space	4558	MT-TF	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4572	MT-TQ	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4512	MT-CO1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4513	MT-CO2	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4514	MT-CO3	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4578	MT-TW	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4540	MT-ND5	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4541	MT-ND6	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4535	MT-ND1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4538	MT-ND4	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4567	MT-TL1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4574	MT-TS1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4575	MT-TS2	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4564	MT-TH	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4677	NARS1	OMIM:619092
HP:0012766	Widened cerebral subarachnoid space	79989	IFT56	OMIM:619534
HP:0012766	Widened cerebral subarachnoid space	79087	ALG12	ORPHA:79324
HP:0012766	Widened cerebral subarachnoid space	3417	IDH1	ORPHA:99646
HP:0012767	Abnormal placental size	3481	IGF2	ORPHA:397590
HP:0012767	Abnormal placental size	1028	CDKN1C	ORPHA:397590
HP:0012767	Abnormal placental size	5324	PLAG1	ORPHA:397590
HP:0012767	Abnormal placental size	8091	HMGA2	ORPHA:397590
HP:0012767	Abnormal placental size	3479	IGF1	ORPHA:73272
HP:0012767	Abnormal placental size	4000	LMNA	ORPHA:1662
HP:0012767	Abnormal placental size	10269	ZMPSTE24	ORPHA:1662
HP:0012767	Abnormal placental size	4593	MUSK	OMIM:208150
HP:0012767	Abnormal placental size	26227	PHGDH	OMIM:256520
HP:0012767	Abnormal placental size	3930	LBR	OMIM:215140
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:254534
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:96334
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:254528
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:254534
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:96334
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:254528
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:254534
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:96334
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:254528
HP:0012767	Abnormal placental size	54903	MKS1	OMIM:249000
HP:0012767	Abnormal placental size	9652	SKIC3	OMIM:222470
HP:0012767	Abnormal placental size	3339	HSPG2	ORPHA:1865
HP:0012768	Neonatal asphyxia	10999	SLC27A4	OMIM:608649
HP:0012768	Neonatal asphyxia	91949	COG7	OMIM:608779
HP:0012768	Neonatal asphyxia	6595	SMARCA2	ORPHA:2728
HP:0012768	Neonatal asphyxia	23729	SHPK	ORPHA:440713
HP:0012768	Neonatal asphyxia	3284	HSD3B2	ORPHA:90791
HP:0012768	Neonatal asphyxia	165918	RNF168	ORPHA:420741
HP:0012768	Neonatal asphyxia	274	BIN1	ORPHA:169189
HP:0012768	Neonatal asphyxia	64419	MTMR14	ORPHA:169189
HP:0012768	Neonatal asphyxia	4618	MYF6	ORPHA:169189
HP:0012768	Neonatal asphyxia	1785	DNM2	ORPHA:169189
HP:0012768	Neonatal asphyxia	6261	RYR1	ORPHA:169189
HP:0012768	Neonatal asphyxia	501	ALDH7A1	ORPHA:3006
HP:0012768	Neonatal asphyxia	11212	PLPBP	ORPHA:3006
HP:0012768	Neonatal asphyxia	2584	GALK1	ORPHA:79237
HP:0012769	Abnormal arm span	4094	MAF	ORPHA:1272
HP:0012769	Abnormal arm span	1297	COL9A1	ORPHA:166002
HP:0012769	Abnormal arm span	1298	COL9A2	ORPHA:166002
HP:0012769	Abnormal arm span	1299	COL9A3	ORPHA:166002
HP:0012769	Abnormal arm span	6399	TRAPPC2	ORPHA:93284
HP:0012769	Abnormal arm span	2200	FBN1	ORPHA:284979
HP:0012769	Abnormal arm span	7043	TGFB3	OMIM:615582
HP:0012769	Abnormal arm span	64324	NSD1	ORPHA:821
HP:0012769	Abnormal arm span	29072	SETD2	ORPHA:821
HP:0012769	Abnormal arm span	10297	APC2	ORPHA:821
HP:0012769	Abnormal arm span	1742	DLG4	OMIM:618793
HP:0012762	Cerebral white matter atrophy	1203	CLN5	ORPHA:228360
HP:0012762	Cerebral white matter atrophy	10059	DNM1L	ORPHA:98673
HP:0012762	Cerebral white matter atrophy	4976	OPA1	ORPHA:98673
HP:0012762	Cerebral white matter atrophy	4702	NDUFA8	OMIM:619272
HP:0012762	Cerebral white matter atrophy	1436	CSF1R	OMIM:221820
HP:0012762	Cerebral white matter atrophy	4099	MAG	OMIM:616680
HP:0012762	Cerebral white matter atrophy	84340	GFM2	ORPHA:565624
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	OMIM:616586
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	ORPHA:447753
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	OMIM:601162
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	ORPHA:447760
HP:0012762	Cerebral white matter atrophy	4125	MAN2B1	OMIM:248500
HP:0012762	Cerebral white matter atrophy	777	CACNA1E	OMIM:618285
HP:0012762	Cerebral white matter atrophy	64207	IRF2BPL	OMIM:618088
HP:0012762	Cerebral white matter atrophy	51728	POLR3K	OMIM:619310
HP:0012762	Cerebral white matter atrophy	10273	STUB1	ORPHA:412057
HP:0012762	Cerebral white matter atrophy	9255	AIMP1	OMIM:260600
HP:0012762	Cerebral white matter atrophy	51692	CPSF3	OMIM:619876
HP:0012762	Cerebral white matter atrophy	3295	HSD17B4	OMIM:261515
HP:0012762	Cerebral white matter atrophy	4191	MDH2	OMIM:617339
HP:0012762	Cerebral white matter atrophy	4001	LMNB1	OMIM:169500
HP:0012762	Cerebral white matter atrophy	84188	FAR1	ORPHA:447753
HP:0012762	Cerebral white matter atrophy	27072	VPS41	OMIM:619389
HP:0012762	Cerebral white matter atrophy	91875	TTC5	OMIM:619244
HP:0012762	Cerebral white matter atrophy	23065	EMC1	OMIM:616875
HP:0012762	Cerebral white matter atrophy	23065	EMC1	ORPHA:480898
HP:0012762	Cerebral white matter atrophy	79152	FA2H	ORPHA:171629
HP:0012762	Cerebral white matter atrophy	51761	ATP8A2	OMIM:615268
HP:0012762	Cerebral white matter atrophy	9409	PEX16	OMIM:614877
HP:0012762	Cerebral white matter atrophy	57704	GBA2	ORPHA:320391
HP:0012762	Cerebral white matter atrophy	79944	L2HGDH	OMIM:236792
HP:0012762	Cerebral white matter atrophy	10466	COG5	ORPHA:263487
HP:0012762	Cerebral white matter atrophy	7874	USP7	ORPHA:500055
HP:0012762	Cerebral white matter atrophy	10134	BCAP31	ORPHA:369939
HP:0012762	Cerebral white matter atrophy	63899	NSUN3	OMIM:619012
HP:0012762	Cerebral white matter atrophy	1161	ERCC8	ORPHA:90324
HP:0012762	Cerebral white matter atrophy	2074	ERCC6	ORPHA:90324
HP:0012762	Cerebral white matter atrophy	7355	SLC35A2	ORPHA:356961
HP:0012762	Cerebral white matter atrophy	8818	DPM2	ORPHA:329178
HP:0012762	Cerebral white matter atrophy	8818	DPM2	OMIM:615042
HP:0012762	Cerebral white matter atrophy	10195	ALG3	ORPHA:79321
HP:0012762	Cerebral white matter atrophy	200205	IBA57	ORPHA:468661
HP:0012762	Cerebral white matter atrophy	57531	HACE1	ORPHA:464282
HP:0012762	Cerebral white matter atrophy	60684	TRAPPC11	ORPHA:369840
HP:0012762	Cerebral white matter atrophy	128240	NAXE	OMIM:617186
HP:0012762	Cerebral white matter atrophy	440138	ALG11	ORPHA:280071
HP:0012762	Cerebral white matter atrophy	3658	IREB2	OMIM:618451
HP:0012762	Cerebral white matter atrophy	10398	MYL9	OMIM:619365
HP:0012762	Cerebral white matter atrophy	1641	DCX	ORPHA:2148
HP:0012762	Cerebral white matter atrophy	9373	PLAA	ORPHA:521426
HP:0012762	Cerebral white matter atrophy	84668	HYCC1	OMIM:610532
HP:0012762	Cerebral white matter atrophy	26227	PHGDH	ORPHA:79351
HP:0012762	Cerebral white matter atrophy	6311	ATXN2	ORPHA:98756
HP:0012762	Cerebral white matter atrophy	443	ASPA	ORPHA:314911
HP:0012762	Cerebral white matter atrophy	3417	IDH1	ORPHA:99646
HP:0009708	Synostosis involving the 5th metacarpal	8823	FGF16	OMIM:309630
HP:0009708	Synostosis involving the 5th metacarpal	3239	HOXD13	OMIM:186300
HP:0009708	Synostosis involving the 5th metacarpal	64093	SMOC1	OMIM:206920
HP:0009708	Synostosis involving the 5th metacarpal	9775	EIF4A3	OMIM:268305
HP:0009707	Synostosis involving the 4th metacarpal	8823	FGF16	OMIM:309630
HP:0009707	Synostosis involving the 4th metacarpal	3239	HOXD13	OMIM:186300
HP:0009707	Synostosis involving the 4th metacarpal	64093	SMOC1	OMIM:206920
HP:0009707	Synostosis involving the 4th metacarpal	9775	EIF4A3	OMIM:268305
HP:0009709	Increased CSF interferon alpha	11277	TREX1	OMIM:225750
HP:0009709	Increased CSF interferon alpha	11277	TREX1	ORPHA:51
HP:0009709	Increased CSF interferon alpha	10535	RNASEH2A	ORPHA:51
HP:0009709	Increased CSF interferon alpha	84153	RNASEH2C	ORPHA:51
HP:0009709	Increased CSF interferon alpha	25939	SAMHD1	ORPHA:51
HP:0009709	Increased CSF interferon alpha	79621	RNASEH2B	ORPHA:51
HP:0009709	Increased CSF interferon alpha	103	ADAR	ORPHA:51
HP:0009709	Increased CSF interferon alpha	103	ADAR	OMIM:615010
HP:0009709	Increased CSF interferon alpha	100147744	RNU7-1	ORPHA:51
HP:0009709	Increased CSF interferon alpha	134353	LSM11	ORPHA:51
HP:0009709	Increased CSF interferon alpha	64135	IFIH1	ORPHA:51
HP:0009710	Chilblains	1777	DNASE2	OMIM:619858
HP:0009710	Chilblains	25939	SAMHD1	OMIM:614415
HP:0009710	Chilblains	25939	SAMHD1	OMIM:612952
HP:0009710	Chilblains	25939	SAMHD1	ORPHA:51
HP:0009710	Chilblains	64135	IFIH1	OMIM:615846
HP:0009710	Chilblains	64135	IFIH1	ORPHA:51
HP:0009710	Chilblains	100147744	RNU7-1	OMIM:619487
HP:0009710	Chilblains	100147744	RNU7-1	ORPHA:51
HP:0009710	Chilblains	11277	TREX1	OMIM:225750
HP:0009710	Chilblains	11277	TREX1	OMIM:610448
HP:0009710	Chilblains	11277	TREX1	ORPHA:51
HP:0009710	Chilblains	10535	RNASEH2A	ORPHA:51
HP:0009710	Chilblains	84153	RNASEH2C	ORPHA:51
HP:0009710	Chilblains	84153	RNASEH2C	OMIM:610329
HP:0009710	Chilblains	79621	RNASEH2B	ORPHA:51
HP:0009710	Chilblains	103	ADAR	ORPHA:51
HP:0009710	Chilblains	103	ADAR	OMIM:615010
HP:0009710	Chilblains	134353	LSM11	ORPHA:51
HP:0009711	Retinal capillary hemangioma	7428	VHL	ORPHA:892
HP:0009711	Retinal capillary hemangioma	7428	VHL	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	7428	VHL	OMIM:193300
HP:0009711	Retinal capillary hemangioma	595	CCND1	ORPHA:892
HP:0009711	Retinal capillary hemangioma	595	CCND1	OMIM:193300
HP:0009711	Retinal capillary hemangioma	1743	DLST	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	4191	MDH2	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	5979	RET	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	6389	SDHA	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	23095	KIF1B	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	2271	FH	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	8402	SLC25A11	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	54949	SDHAF2	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	55654	TMEM127	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	4763	NF1	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	6391	SDHC	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	6392	SDHD	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	6390	SDHB	ORPHA:29072
HP:0009711	Retinal capillary hemangioma	4149	MAX	ORPHA:29072
HP:0010302	Spinal cord tumor	595	CCND1	OMIM:193300
HP:0010302	Spinal cord tumor	7428	VHL	OMIM:193300
HP:0010302	Spinal cord tumor	65998	ZFTA	ORPHA:251636
HP:0010302	Spinal cord tumor	5970	RELA	ORPHA:251636
HP:0010302	Spinal cord tumor	4771	NF2	ORPHA:637
HP:0010302	Spinal cord tumor	4771	NF2	OMIM:162091
HP:0010302	Spinal cord tumor	1387	CREBBP	ORPHA:353281
HP:0010302	Spinal cord tumor	6598	SMARCB1	OMIM:162091
HP:0010302	Spinal cord tumor	8216	LZTR1	OMIM:615670
HP:0010302	Spinal cord tumor	2313	FLI1	ORPHA:370348
HP:0009713	Spinal hemangioblastoma	595	CCND1	OMIM:193300
HP:0009713	Spinal hemangioblastoma	7428	VHL	OMIM:193300
HP:0009714	Abnormal epididymis morphology	7374	UNG	OMIM:608106
HP:0009714	Abnormal epididymis morphology	695	BTK	OMIM:300755
HP:0009714	Abnormal epididymis morphology	695	BTK	OMIM:307200
HP:0009714	Abnormal epididymis morphology	5696	PSMB8	OMIM:256040
HP:0009714	Abnormal epididymis morphology	3514	IGKC	ORPHA:183675
HP:0009714	Abnormal epididymis morphology	3501	IGHG2	ORPHA:183675
HP:0009714	Abnormal epididymis morphology	50846	DHH	OMIM:233420
HP:0009714	Abnormal epididymis morphology	1387	CREBBP	OMIM:180849
HP:0009714	Abnormal epididymis morphology	2033	EP300	OMIM:180849
HP:0009714	Abnormal epididymis morphology	7428	VHL	ORPHA:892
HP:0009714	Abnormal epididymis morphology	7428	VHL	OMIM:193300
HP:0009714	Abnormal epididymis morphology	595	CCND1	ORPHA:892
HP:0009714	Abnormal epididymis morphology	595	CCND1	OMIM:193300
HP:0009714	Abnormal epididymis morphology	10847	SRCAP	ORPHA:2044
HP:0009714	Abnormal epididymis morphology	10847	SRCAP	OMIM:136140
HP:0009714	Abnormal epididymis morphology	6928	HNF1B	OMIM:137920
HP:0009714	Abnormal epididymis morphology	9075	CLDN2	OMIM:301060
HP:0002550	Absent facial hair	54345	SOX18	OMIM:137940
HP:0002550	Absent facial hair	54345	SOX18	OMIM:607823
HP:0002550	Absent facial hair	54345	SOX18	ORPHA:69735
HP:0002550	Absent facial hair	8626	TP63	OMIM:106260
HP:0002550	Absent facial hair	5317	PKP1	OMIM:604536
HP:0002550	Absent facial hair	1896	EDA	OMIM:305100
HP:0002550	Absent facial hair	1832	DSP	ORPHA:158687
HP:0002550	Absent facial hair	3728	JUP	ORPHA:158687
HP:0002550	Absent facial hair	4035	LRP1	OMIM:604093
HP:0002550	Absent facial hair	673	BRAF	OMIM:115150
HP:0002550	Absent facial hair	128178	EDARADD	OMIM:614941
HP:0002550	Absent facial hair	64682	ANAPC1	OMIM:618625
HP:0002550	Absent facial hair	11128	POLR3A	OMIM:264090
HP:0002550	Absent facial hair	10269	ZMPSTE24	OMIM:275210
HP:0002550	Absent facial hair	80144	FRAS1	OMIM:219000
HP:0002550	Absent facial hair	3891	KRT85	OMIM:602032
HP:0002550	Absent facial hair	55806	HR	ORPHA:701
HP:0002550	Absent facial hair	55806	HR	OMIM:203655
HP:0002550	Absent facial hair	10283	CWC27	ORPHA:166035
HP:0002550	Absent facial hair	117581	TWIST2	ORPHA:920
HP:0002550	Absent facial hair	117581	TWIST2	OMIM:200110
HP:0002550	Absent facial hair	9401	RECQL4	OMIM:268400
HP:0002550	Absent facial hair	2255	FGF10	OMIM:620193
HP:0002550	Absent facial hair	2706	GJB2	OMIM:602540
HP:0002550	Absent facial hair	84172	POLR1B	ORPHA:861
HP:0002550	Absent facial hair	9533	POLR1C	ORPHA:861
HP:0002550	Absent facial hair	51082	POLR1D	ORPHA:861
HP:0002550	Absent facial hair	6949	TCOF1	ORPHA:861
HP:0002550	Absent facial hair	51360	MBTPS2	OMIM:308205
HP:0002550	Absent facial hair	54101	RIPK4	OMIM:263650
HP:0002550	Absent facial hair	4000	LMNA	ORPHA:363618
HP:0002550	Absent facial hair	4000	LMNA	ORPHA:90153
HP:0002550	Absent facial hair	4953	ODC1	ORPHA:544488
HP:0002550	Absent facial hair	3229	HOXC13	OMIM:614931
HP:0002550	Absent facial hair	10651	MTX2	ORPHA:90153
HP:0002550	Absent facial hair	26227	PHGDH	OMIM:256520
HP:0002550	Absent facial hair	1041	CDSN	ORPHA:90368
HP:0002550	Absent facial hair	121391	KRT74	ORPHA:90368
HP:0002550	Absent facial hair	81607	NECTIN4	OMIM:613573
HP:0002550	Absent facial hair	367	AR	OMIM:300068
HP:0002550	Absent facial hair	26137	ZBTB20	OMIM:259050
HP:0002550	Absent facial hair	10262	SF3B4	OMIM:154400
HP:0002552	Trichodysplasia	51702	PADI3	ORPHA:1410
HP:0002552	Trichodysplasia	7053	TGM3	ORPHA:1410
HP:0002553	Highly arched eyebrow	8243	SMC1A	OMIM:300590
HP:0002553	Highly arched eyebrow	8243	SMC1A	OMIM:301044
HP:0002553	Highly arched eyebrow	8243	SMC1A	ORPHA:199
HP:0002553	Highly arched eyebrow	10128	LRPPRC	OMIM:220111
HP:0002553	Highly arched eyebrow	8294	H4C9	OMIM:619951
HP:0002553	Highly arched eyebrow	50651	SLC45A1	OMIM:617532
HP:0002553	Highly arched eyebrow	9853	RUSC2	OMIM:617773
HP:0002553	Highly arched eyebrow	26128	KIFBP	OMIM:609460
HP:0002553	Highly arched eyebrow	23334	SZT2	OMIM:615476
HP:0002553	Highly arched eyebrow	6228	RPS23	OMIM:617412
HP:0002553	Highly arched eyebrow	5885	RAD21	OMIM:614701
HP:0002553	Highly arched eyebrow	5885	RAD21	ORPHA:199
HP:0002553	Highly arched eyebrow	55627	SMPD4	OMIM:618622
HP:0002553	Highly arched eyebrow	7360	UGP2	OMIM:618744
HP:0002553	Highly arched eyebrow	7021	TFAP2B	OMIM:169100
HP:0002553	Highly arched eyebrow	55777	MBD5	ORPHA:228402
HP:0002553	Highly arched eyebrow	55777	MBD5	OMIM:156200
HP:0002553	Highly arched eyebrow	55209	SETD5	ORPHA:404440
HP:0002553	Highly arched eyebrow	4125	MAN2B1	ORPHA:309282
HP:0002553	Highly arched eyebrow	9578	CDC42BPB	OMIM:619841
HP:0002553	Highly arched eyebrow	613	BCR	ORPHA:261330
HP:0002553	Highly arched eyebrow	1399	CRKL	ORPHA:261330
HP:0002553	Highly arched eyebrow	5594	MAPK1	ORPHA:261330
HP:0002553	Highly arched eyebrow	5594	MAPK1	OMIM:619087
HP:0002553	Highly arched eyebrow	80816	ASXL3	OMIM:615485
HP:0002553	Highly arched eyebrow	80816	ASXL3	ORPHA:352577
HP:0002553	Highly arched eyebrow	9442	MED27	OMIM:619286
HP:0002553	Highly arched eyebrow	23322	RPGRIP1L	ORPHA:220497
HP:0002553	Highly arched eyebrow	23322	RPGRIP1L	ORPHA:1454
HP:0002553	Highly arched eyebrow	4867	NPHP1	ORPHA:220497
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:220497
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:475
HP:0002553	Highly arched eyebrow	65062	TMEM237	OMIM:614424
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:2318
HP:0002553	Highly arched eyebrow	4010	LMX1B	ORPHA:495818
HP:0002553	Highly arched eyebrow	6812	STXBP1	ORPHA:495818
HP:0002553	Highly arched eyebrow	55690	PACS1	OMIM:615009
HP:0002553	Highly arched eyebrow	55690	PACS1	ORPHA:329224
HP:0002553	Highly arched eyebrow	54806	AHI1	ORPHA:220493
HP:0002553	Highly arched eyebrow	54806	AHI1	ORPHA:475
HP:0002553	Highly arched eyebrow	54806	AHI1	OMIM:608629
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:220493
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:475
HP:0002553	Highly arched eyebrow	56623	INPP5E	OMIM:213300
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:1454
HP:0002553	Highly arched eyebrow	153241	CEP120	ORPHA:220493
HP:0002553	Highly arched eyebrow	153241	CEP120	ORPHA:475
HP:0002553	Highly arched eyebrow	54903	MKS1	ORPHA:220493
HP:0002553	Highly arched eyebrow	54903	MKS1	ORPHA:475
HP:0002553	Highly arched eyebrow	54903	MKS1	OMIM:617121
HP:0002553	Highly arched eyebrow	95681	CEP41	ORPHA:220493
HP:0002553	Highly arched eyebrow	95681	CEP41	ORPHA:475
HP:0002553	Highly arched eyebrow	80055	PGAP1	OMIM:615802
HP:0002553	Highly arched eyebrow	23384	SPECC1L	ORPHA:1519
HP:0002553	Highly arched eyebrow	23384	SPECC1L	OMIM:145420
HP:0002553	Highly arched eyebrow	5818	NECTIN1	ORPHA:3253
HP:0002553	Highly arched eyebrow	29072	SETD2	OMIM:620157
HP:0002553	Highly arched eyebrow	29072	SETD2	OMIM:620155
HP:0002553	Highly arched eyebrow	55780	ERMARD	ORPHA:75857
HP:0002553	Highly arched eyebrow	10978	CLP1	OMIM:615803
HP:0002553	Highly arched eyebrow	10978	CLP1	ORPHA:411493
HP:0002553	Highly arched eyebrow	55636	CHD7	ORPHA:138
HP:0002553	Highly arched eyebrow	9723	SEMA3E	ORPHA:138
HP:0002553	Highly arched eyebrow	55650	PIGV	OMIM:239300
HP:0002553	Highly arched eyebrow	55650	PIGV	ORPHA:247262
HP:0002553	Highly arched eyebrow	6595	SMARCA2	OMIM:619293
HP:0002553	Highly arched eyebrow	6595	SMARCA2	ORPHA:3051
HP:0002553	Highly arched eyebrow	6197	RPS6KA3	OMIM:303600
HP:0002553	Highly arched eyebrow	1185	CLCN6	OMIM:619173
HP:0002553	Highly arched eyebrow	84992	PIGY	ORPHA:247262
HP:0002553	Highly arched eyebrow	84720	PIGO	ORPHA:247262
HP:0002553	Highly arched eyebrow	93210	PGAP3	ORPHA:247262
HP:0002553	Highly arched eyebrow	284098	PIGW	ORPHA:247262
HP:0002553	Highly arched eyebrow	27315	PGAP2	ORPHA:247262
HP:0002553	Highly arched eyebrow	9487	PIGL	ORPHA:247262
HP:0002553	Highly arched eyebrow	9487	PIGL	OMIM:280000
HP:0002553	Highly arched eyebrow	317662	FAM149B1	OMIM:618763
HP:0002553	Highly arched eyebrow	317662	FAM149B1	ORPHA:2754
HP:0002553	Highly arched eyebrow	10584	COLEC10	OMIM:248340
HP:0002553	Highly arched eyebrow	10584	COLEC10	ORPHA:293843
HP:0002553	Highly arched eyebrow	818	CAMK2G	OMIM:618522
HP:0002553	Highly arched eyebrow	9469	CHST3	OMIM:143095
HP:0002553	Highly arched eyebrow	9469	CHST3	ORPHA:263463
HP:0002553	Highly arched eyebrow	54880	BCOR	ORPHA:2712
HP:0002553	Highly arched eyebrow	23184	MESD	OMIM:618644
HP:0002553	Highly arched eyebrow	93627	TBCK	OMIM:616900
HP:0002553	Highly arched eyebrow	23325	WASHC4	OMIM:615817
HP:0002553	Highly arched eyebrow	9839	ZEB2	ORPHA:261552
HP:0002553	Highly arched eyebrow	10815	CPLX1	ORPHA:280
HP:0002553	Highly arched eyebrow	10815	CPLX1	OMIM:194190
HP:0002553	Highly arched eyebrow	10815	CPLX1	OMIM:617976
HP:0002553	Highly arched eyebrow	54872	PIGG	ORPHA:280
HP:0002553	Highly arched eyebrow	7469	NELFA	ORPHA:280
HP:0002553	Highly arched eyebrow	1487	CTBP1	ORPHA:280
HP:0002553	Highly arched eyebrow	1487	CTBP1	OMIM:194190
HP:0002553	Highly arched eyebrow	3954	LETM1	ORPHA:280
HP:0002553	Highly arched eyebrow	3954	LETM1	OMIM:194190
HP:0002553	Highly arched eyebrow	7468	NSD2	ORPHA:280
HP:0002553	Highly arched eyebrow	7468	NSD2	OMIM:194190
HP:0002553	Highly arched eyebrow	7468	NSD2	OMIM:619695
HP:0002553	Highly arched eyebrow	4330	MN1	OMIM:618774
HP:0002553	Highly arched eyebrow	1656	DDX6	OMIM:618653
HP:0002553	Highly arched eyebrow	4212	MEIS2	OMIM:600987
HP:0002553	Highly arched eyebrow	26053	AUTS2	ORPHA:352490
HP:0002553	Highly arched eyebrow	26053	AUTS2	OMIM:615834
HP:0002553	Highly arched eyebrow	55012	PPP2R3C	OMIM:618419
HP:0002553	Highly arched eyebrow	1009	CDH11	ORPHA:1299
HP:0002553	Highly arched eyebrow	1954	MEGF8	OMIM:614976
HP:0002553	Highly arched eyebrow	53834	FGFRL1	OMIM:194190
HP:0002553	Highly arched eyebrow	79600	TCTN1	ORPHA:475
HP:0002553	Highly arched eyebrow	79848	CSPP1	ORPHA:475
HP:0002553	Highly arched eyebrow	51684	SUFU	ORPHA:475
HP:0002553	Highly arched eyebrow	65250	CPLANE1	ORPHA:475
HP:0002553	Highly arched eyebrow	65250	CPLANE1	ORPHA:2754
HP:0002553	Highly arched eyebrow	91147	TMEM67	ORPHA:475
HP:0002553	Highly arched eyebrow	91147	TMEM67	ORPHA:1454
HP:0002553	Highly arched eyebrow	200894	ARL13B	ORPHA:475
HP:0002553	Highly arched eyebrow	9731	CEP104	ORPHA:475
HP:0002553	Highly arched eyebrow	219844	HYLS1	ORPHA:475
HP:0002553	Highly arched eyebrow	23247	KATNIP	ORPHA:475
HP:0002553	Highly arched eyebrow	219854	TMEM218	ORPHA:475
HP:0002553	Highly arched eyebrow	9786	KIAA0586	ORPHA:475
HP:0002553	Highly arched eyebrow	79867	TCTN2	ORPHA:475
HP:0002553	Highly arched eyebrow	80776	B9D2	ORPHA:475
HP:0002553	Highly arched eyebrow	10464	PIBF1	ORPHA:475
HP:0002553	Highly arched eyebrow	80210	ARMC9	ORPHA:475
HP:0002553	Highly arched eyebrow	23116	TOGARAM1	ORPHA:475
HP:0002553	Highly arched eyebrow	25776	CBY1	ORPHA:475
HP:0002553	Highly arched eyebrow	27077	B9D1	ORPHA:475
HP:0002553	Highly arched eyebrow	403	ARL3	ORPHA:475
HP:0002553	Highly arched eyebrow	403	ARL3	OMIM:618161
HP:0002553	Highly arched eyebrow	5792	PTPRF	OMIM:616001
HP:0002553	Highly arched eyebrow	51633	OTUD6B	OMIM:617452
HP:0002553	Highly arched eyebrow	51633	OTUD6B	ORPHA:505237
HP:0002553	Highly arched eyebrow	8363	H4C11	OMIM:619759
HP:0002553	Highly arched eyebrow	54499	TMCO1	OMIM:213980
HP:0002553	Highly arched eyebrow	78989	COLEC11	OMIM:265050
HP:0002553	Highly arched eyebrow	78989	COLEC11	ORPHA:293843
HP:0002553	Highly arched eyebrow	10472	ZBTB18	OMIM:612337
HP:0002553	Highly arched eyebrow	9772	TMEM94	OMIM:618316
HP:0002553	Highly arched eyebrow	668	FOXL2	ORPHA:572333
HP:0002553	Highly arched eyebrow	668	FOXL2	OMIM:110100
HP:0002553	Highly arched eyebrow	3187	HNRNPH1	OMIM:620083
HP:0002553	Highly arched eyebrow	4123	MAN2C1	OMIM:619775
HP:0002553	Highly arched eyebrow	57479	PRR12	OMIM:619539
HP:0002553	Highly arched eyebrow	10735	STAG2	ORPHA:521258
HP:0002553	Highly arched eyebrow	23483	TGDS	ORPHA:1388
HP:0002553	Highly arched eyebrow	7994	KAT6A	OMIM:616268
HP:0002553	Highly arched eyebrow	25836	NIPBL	OMIM:122470
HP:0002553	Highly arched eyebrow	25836	NIPBL	ORPHA:199
HP:0002553	Highly arched eyebrow	79791	FBXO31	OMIM:615979
HP:0002553	Highly arched eyebrow	22856	CHSY1	OMIM:605282
HP:0002553	Highly arched eyebrow	117581	TWIST2	ORPHA:1807
HP:0002553	Highly arched eyebrow	8295	TRRAP	OMIM:618454
HP:0002553	Highly arched eyebrow	8621	CDK13	OMIM:617360
HP:0002553	Highly arched eyebrow	9427	ECEL1	OMIM:615065
HP:0002553	Highly arched eyebrow	84188	FAR1	OMIM:616154
HP:0002553	Highly arched eyebrow	84188	FAR1	ORPHA:438178
HP:0002553	Highly arched eyebrow	2702	GJA5	OMIM:612474
HP:0002553	Highly arched eyebrow	2703	GJA8	OMIM:612474
HP:0002553	Highly arched eyebrow	2033	EP300	OMIM:613684
HP:0002553	Highly arched eyebrow	2033	EP300	ORPHA:353284
HP:0002553	Highly arched eyebrow	2033	EP300	OMIM:180849
HP:0002553	Highly arched eyebrow	867	CBL	OMIM:613563
HP:0002553	Highly arched eyebrow	6878	TAF6	OMIM:617126
HP:0002553	Highly arched eyebrow	6664	SOX11	OMIM:615866
HP:0002553	Highly arched eyebrow	157570	ESCO2	OMIM:216100
HP:0002553	Highly arched eyebrow	157570	ESCO2	ORPHA:2319
HP:0002553	Highly arched eyebrow	23013	SPEN	OMIM:619312
HP:0002553	Highly arched eyebrow	54892	NCAPG2	OMIM:618460
HP:0002553	Highly arched eyebrow	54517	PUS7	OMIM:618342
HP:0002553	Highly arched eyebrow	5648	MASP1	OMIM:257920
HP:0002553	Highly arched eyebrow	5648	MASP1	ORPHA:293843
HP:0002553	Highly arched eyebrow	9759	HDAC4	ORPHA:1001
HP:0002553	Highly arched eyebrow	9759	HDAC4	OMIM:600430
HP:0002553	Highly arched eyebrow	92335	STRADA	ORPHA:500533
HP:0002553	Highly arched eyebrow	79813	EHMT1	ORPHA:96147
HP:0002553	Highly arched eyebrow	23028	KDM1A	OMIM:616728
HP:0002553	Highly arched eyebrow	27125	AFF4	ORPHA:444077
HP:0002553	Highly arched eyebrow	55869	HDAC8	OMIM:300882
HP:0002553	Highly arched eyebrow	55869	HDAC8	ORPHA:199
HP:0002553	Highly arched eyebrow	1349	COX7B	OMIM:300887
HP:0002553	Highly arched eyebrow	29998	BICRA	OMIM:619325
HP:0002553	Highly arched eyebrow	113179	ADAT3	ORPHA:363528
HP:0002553	Highly arched eyebrow	3313	HSPA9	OMIM:616854
HP:0002553	Highly arched eyebrow	8085	KMT2D	ORPHA:2322
HP:0002553	Highly arched eyebrow	8085	KMT2D	OMIM:147920
HP:0002553	Highly arched eyebrow	7403	KDM6A	ORPHA:2322
HP:0002553	Highly arched eyebrow	7403	KDM6A	OMIM:300867
HP:0002553	Highly arched eyebrow	7403	KDM6A	OMIM:147920
HP:0002553	Highly arched eyebrow	998	CDC42	OMIM:616737
HP:0002553	Highly arched eyebrow	998	CDC42	ORPHA:487796
HP:0002553	Highly arched eyebrow	9126	SMC3	OMIM:610759
HP:0002553	Highly arched eyebrow	9126	SMC3	ORPHA:199
HP:0002553	Highly arched eyebrow	4297	KMT2A	OMIM:605130
HP:0002553	Highly arched eyebrow	56975	FAM20C	OMIM:259775
HP:0002553	Highly arched eyebrow	4784	NFIX	OMIM:602535
HP:0002553	Highly arched eyebrow	23221	RHOBTB2	OMIM:618004
HP:0002553	Highly arched eyebrow	4052	LTBP1	OMIM:619451
HP:0002553	Highly arched eyebrow	3756	KCNH1	OMIM:135500
HP:0002553	Highly arched eyebrow	11253	MAN1B1	OMIM:614202
HP:0002553	Highly arched eyebrow	23511	NUP188	OMIM:618804
HP:0002553	Highly arched eyebrow	26999	CYFIP2	OMIM:618008
HP:0002553	Highly arched eyebrow	79583	TMEM231	ORPHA:2318
HP:0002553	Highly arched eyebrow	51524	TMEM138	ORPHA:2318
HP:0002553	Highly arched eyebrow	23090	ZNF423	ORPHA:2318
HP:0002553	Highly arched eyebrow	80184	CEP290	ORPHA:2318
HP:0002553	Highly arched eyebrow	51259	TMEM216	ORPHA:2318
HP:0002553	Highly arched eyebrow	51259	TMEM216	ORPHA:2754
HP:0002553	Highly arched eyebrow	57545	CC2D2A	ORPHA:2318
HP:0002553	Highly arched eyebrow	57545	CC2D2A	ORPHA:1454
HP:0002553	Highly arched eyebrow	22827	PUF60	ORPHA:508488
HP:0002553	Highly arched eyebrow	6045	RNF2	OMIM:619460
HP:0002553	Highly arched eyebrow	9496	TBX4	ORPHA:261279
HP:0002553	Highly arched eyebrow	51305	KCNK9	ORPHA:166108
HP:0002553	Highly arched eyebrow	51305	KCNK9	OMIM:612292
HP:0002553	Highly arched eyebrow	60	ACTB	OMIM:243310
HP:0002553	Highly arched eyebrow	60	ACTB	ORPHA:2995
HP:0002553	Highly arched eyebrow	23476	BRD4	ORPHA:199
HP:0002553	Highly arched eyebrow	10664	CTCF	ORPHA:363611
HP:0002553	Highly arched eyebrow	71	ACTG1	OMIM:614583
HP:0002553	Highly arched eyebrow	71	ACTG1	ORPHA:2995
HP:0002553	Highly arched eyebrow	348180	CTU2	OMIM:618142
HP:0002553	Highly arched eyebrow	94005	PIGS	OMIM:618143
HP:0002553	Highly arched eyebrow	1387	CREBBP	OMIM:180849
HP:0002553	Highly arched eyebrow	1387	CREBBP	ORPHA:353277
HP:0002553	Highly arched eyebrow	7204	TRIO	OMIM:618825
HP:0002553	Highly arched eyebrow	8405	SPOP	OMIM:618828
HP:0002553	Highly arched eyebrow	1457	CSNK2A1	OMIM:617062
HP:0002553	Highly arched eyebrow	2571	GAD1	OMIM:619124
HP:0002553	Highly arched eyebrow	55617	TASP1	OMIM:618950
HP:0002553	Highly arched eyebrow	8567	MADD	OMIM:619005
HP:0002553	Highly arched eyebrow	6472	SHMT2	OMIM:619121
HP:0002553	Highly arched eyebrow	29123	ANKRD11	ORPHA:261250
HP:0002553	Highly arched eyebrow	91875	TTC5	OMIM:619244
HP:0002553	Highly arched eyebrow	57688	ZSWIM6	OMIM:617865
HP:0002553	Highly arched eyebrow	5500	PPP1CB	OMIM:617506
HP:0002553	Highly arched eyebrow	113246	C12orf57	OMIM:218340
HP:0002553	Highly arched eyebrow	55691	FRMD4A	ORPHA:466688
HP:0002553	Highly arched eyebrow	55252	ASXL2	OMIM:617190
HP:0002553	Highly arched eyebrow	259266	ASPM	OMIM:608716
HP:0002553	Highly arched eyebrow	57020	VPS35L	OMIM:619135
HP:0002553	Highly arched eyebrow	5879	RAC1	OMIM:617751
HP:0002553	Highly arched eyebrow	5879	RAC1	ORPHA:500159
HP:0002553	Highly arched eyebrow	10210	TOPORS	ORPHA:2754
HP:0002553	Highly arched eyebrow	9851	KIAA0753	ORPHA:2754
HP:0002553	Highly arched eyebrow	26123	TCTN3	ORPHA:2754
HP:0002553	Highly arched eyebrow	5147	PDE6D	ORPHA:2754
HP:0002553	Highly arched eyebrow	8481	OFD1	ORPHA:2754
HP:0002553	Highly arched eyebrow	374654	KIF7	ORPHA:2754
HP:0002553	Highly arched eyebrow	3480	IGF1R	OMIM:270450
HP:0002553	Highly arched eyebrow	58499	ZNF462	OMIM:618619
HP:0002555	Absent pubic hair	10804	GJB6	ORPHA:189
HP:0002555	Absent pubic hair	10804	GJB6	OMIM:129500
HP:0002555	Absent pubic hair	2796	GNRH1	OMIM:614841
HP:0002555	Absent pubic hair	3691	ITGB4	OMIM:619816
HP:0002555	Absent pubic hair	79574	EPS8L3	OMIM:612841
HP:0002555	Absent pubic hair	2706	GJB2	OMIM:148210
HP:0002555	Absent pubic hair	2516	NR5A1	OMIM:612964
HP:0002555	Absent pubic hair	55806	HR	OMIM:203655
HP:0002555	Absent pubic hair	367	AR	ORPHA:99429
HP:0002555	Absent pubic hair	1586	CYP17A1	ORPHA:90793
HP:0002558	Supernumerary nipple	9653	HS2ST1	OMIM:619194
HP:0002558	Supernumerary nipple	64840	PORCN	OMIM:305600
HP:0002558	Supernumerary nipple	10771	ZMYND11	OMIM:616083
HP:0002558	Supernumerary nipple	8294	H4C9	OMIM:619951
HP:0002558	Supernumerary nipple	10765	KDM5B	OMIM:618109
HP:0002558	Supernumerary nipple	5648	MASP1	OMIM:257920
HP:0002558	Supernumerary nipple	5648	MASP1	ORPHA:293843
HP:0002558	Supernumerary nipple	10054	UBA2	OMIM:619959
HP:0002558	Supernumerary nipple	57514	ARHGAP31	OMIM:100300
HP:0002558	Supernumerary nipple	60	ACTB	ORPHA:64755
HP:0002558	Supernumerary nipple	9759	HDAC4	ORPHA:1001
HP:0002558	Supernumerary nipple	4191	MDH2	OMIM:617339
HP:0002558	Supernumerary nipple	8626	TP63	OMIM:129400
HP:0002558	Supernumerary nipple	8626	TP63	OMIM:106260
HP:0002558	Supernumerary nipple	23028	KDM1A	OMIM:616728
HP:0002558	Supernumerary nipple	23028	KDM1A	ORPHA:477993
HP:0002558	Supernumerary nipple	54499	TMCO1	OMIM:213980
HP:0002558	Supernumerary nipple	9839	ZEB2	OMIM:235730
HP:0002558	Supernumerary nipple	6925	TCF4	ORPHA:2896
HP:0002558	Supernumerary nipple	6925	TCF4	OMIM:610954
HP:0002558	Supernumerary nipple	8517	IKBKG	ORPHA:464
HP:0002558	Supernumerary nipple	8517	IKBKG	OMIM:308300
HP:0002558	Supernumerary nipple	3190	HNRNPK	ORPHA:453504
HP:0002558	Supernumerary nipple	3190	HNRNPK	OMIM:616580
HP:0002558	Supernumerary nipple	3190	HNRNPK	ORPHA:352665
HP:0002558	Supernumerary nipple	79848	CSPP1	ORPHA:397715
HP:0002558	Supernumerary nipple	9786	KIAA0586	ORPHA:397715
HP:0002558	Supernumerary nipple	80816	ASXL3	OMIM:615485
HP:0002558	Supernumerary nipple	23112	TNRC6B	OMIM:619243
HP:0002558	Supernumerary nipple	10220	GDF11	OMIM:619122
HP:0002558	Supernumerary nipple	1723	DHODH	OMIM:263750
HP:0002558	Supernumerary nipple	1723	DHODH	ORPHA:246
HP:0002558	Supernumerary nipple	283489	CHAMP1	OMIM:616579
HP:0002558	Supernumerary nipple	150468	CKAP2L	ORPHA:3255
HP:0002558	Supernumerary nipple	4841	NONO	ORPHA:466791
HP:0002558	Supernumerary nipple	2239	GPC4	ORPHA:373
HP:0002558	Supernumerary nipple	2239	GPC4	OMIM:312870
HP:0002558	Supernumerary nipple	2719	GPC3	ORPHA:373
HP:0002558	Supernumerary nipple	2719	GPC3	OMIM:312870
HP:0002558	Supernumerary nipple	84992	PIGY	ORPHA:247262
HP:0002558	Supernumerary nipple	84720	PIGO	ORPHA:247262
HP:0002558	Supernumerary nipple	93210	PGAP3	ORPHA:247262
HP:0002558	Supernumerary nipple	284098	PIGW	ORPHA:247262
HP:0002558	Supernumerary nipple	27315	PGAP2	ORPHA:247262
HP:0002558	Supernumerary nipple	55650	PIGV	ORPHA:247262
HP:0002558	Supernumerary nipple	9487	PIGL	ORPHA:247262
HP:0002558	Supernumerary nipple	5528	PPP2R5D	ORPHA:457279
HP:0002558	Supernumerary nipple	10274	STAG1	OMIM:617635
HP:0002558	Supernumerary nipple	7021	TFAP2B	ORPHA:46627
HP:0002558	Supernumerary nipple	10584	COLEC10	ORPHA:293843
HP:0002558	Supernumerary nipple	78989	COLEC11	ORPHA:293843
HP:0002558	Supernumerary nipple	1000	CDH2	OMIM:618929
HP:0002558	Supernumerary nipple	7020	TFAP2A	OMIM:113620
HP:0002558	Supernumerary nipple	171023	ASXL1	OMIM:605039
HP:0002558	Supernumerary nipple	3845	KRAS	OMIM:600268
HP:0002558	Supernumerary nipple	54476	RNF216	ORPHA:1173
HP:0002558	Supernumerary nipple	10908	PNPLA6	ORPHA:1173
HP:0002558	Supernumerary nipple	8295	TRRAP	OMIM:618454
HP:0002558	Supernumerary nipple	1656	DDX6	OMIM:618653
HP:0002558	Supernumerary nipple	57728	WDR19	OMIM:614376
HP:0002558	Supernumerary nipple	1954	MEGF8	OMIM:614976
HP:0002558	Supernumerary nipple	3720	JARID2	OMIM:620098
HP:0012770	Reduced arm span	4094	MAF	ORPHA:1272
HP:0012770	Reduced arm span	1297	COL9A1	ORPHA:166002
HP:0012770	Reduced arm span	1298	COL9A2	ORPHA:166002
HP:0012770	Reduced arm span	1299	COL9A3	ORPHA:166002
HP:0012771	Increased arm span	6399	TRAPPC2	ORPHA:93284
HP:0012771	Increased arm span	2200	FBN1	ORPHA:284979
HP:0012771	Increased arm span	7043	TGFB3	OMIM:615582
HP:0012771	Increased arm span	64324	NSD1	ORPHA:821
HP:0012771	Increased arm span	29072	SETD2	ORPHA:821
HP:0012771	Increased arm span	10297	APC2	ORPHA:821
HP:0012771	Increased arm span	1742	DLG4	OMIM:618793
HP:0012772	Abnormal upper to lower segment ratio	2200	FBN1	OMIM:154700
HP:0012772	Abnormal upper to lower segment ratio	2201	FBN2	OMIM:121050
HP:0012772	Abnormal upper to lower segment ratio	2245	FGD1	OMIM:305400
HP:0012774	Increased upper to lower segment ratio	2201	FBN2	OMIM:121050
HP:0012774	Increased upper to lower segment ratio	2245	FGD1	OMIM:305400
HP:0012775	Stellate iris	57479	PRR12	OMIM:619539
HP:0012775	Stellate iris	6638	SNRPN	ORPHA:177907
HP:0012776	Abnormal ciliary body morphology	3913	LAMB2	OMIM:609049
HP:0012776	Abnormal ciliary body morphology	8314	BAP1	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	57105	CYSLTR2	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	2776	GNAQ	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	2767	GNA11	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	23451	SF3B1	ORPHA:39044
HP:0012777	Retinal neoplasm	5925	RB1	ORPHA:1587
HP:0012777	Retinal neoplasm	5925	RB1	OMIM:180200
HP:0012777	Retinal neoplasm	5925	RB1	OMIM:259500
HP:0012777	Retinal neoplasm	7157	TP53	OMIM:259500
HP:0012777	Retinal neoplasm	11200	CHEK2	OMIM:259500
HP:0012778	Retinal astrocytic hamartoma	3458	IFNG	ORPHA:805
HP:0012778	Retinal astrocytic hamartoma	7248	TSC1	ORPHA:805
HP:0012778	Retinal astrocytic hamartoma	7249	TSC2	ORPHA:805
HP:0012773	Reduced upper to lower segment ratio	2200	FBN1	OMIM:154700
HP:0009717	Cortical tubers	7249	TSC2	OMIM:613254
HP:0009717	Cortical tubers	7249	TSC2	ORPHA:805
HP:0009717	Cortical tubers	3458	IFNG	OMIM:613254
HP:0009717	Cortical tubers	3458	IFNG	ORPHA:805
HP:0009717	Cortical tubers	7248	TSC1	ORPHA:805
HP:0009717	Cortical tubers	7248	TSC1	OMIM:191100
HP:0009716	Subependymal nodules	7249	TSC2	OMIM:613254
HP:0009716	Subependymal nodules	7249	TSC2	ORPHA:805
HP:0009716	Subependymal nodules	3458	IFNG	OMIM:613254
HP:0009716	Subependymal nodules	3458	IFNG	ORPHA:805
HP:0009716	Subependymal nodules	2639	GCDH	ORPHA:25
HP:0009716	Subependymal nodules	7248	TSC1	ORPHA:805
HP:0009716	Subependymal nodules	7248	TSC1	OMIM:191100
HP:0009719	Hypomelanotic macule	7249	TSC2	OMIM:613254
HP:0009719	Hypomelanotic macule	7249	TSC2	ORPHA:805
HP:0009719	Hypomelanotic macule	3458	IFNG	OMIM:613254
HP:0009719	Hypomelanotic macule	3458	IFNG	ORPHA:805
HP:0009719	Hypomelanotic macule	7248	TSC1	ORPHA:805
HP:0009719	Hypomelanotic macule	7248	TSC1	OMIM:191100
HP:0009719	Hypomelanotic macule	23509	POFUT1	OMIM:615327
HP:0009719	Hypomelanotic macule	3852	KRT5	ORPHA:79397
HP:0009719	Hypomelanotic macule	3852	KRT5	ORPHA:79399
HP:0009719	Hypomelanotic macule	3861	KRT14	ORPHA:79397
HP:0009719	Hypomelanotic macule	3861	KRT14	ORPHA:79399
HP:0009719	Hypomelanotic macule	134218	DNAJC21	OMIM:617052
HP:0009719	Hypomelanotic macule	23328	SASH1	OMIM:618373
HP:0009718	Subependymal giant-cell astrocytoma	7249	TSC2	OMIM:613254
HP:0009718	Subependymal giant-cell astrocytoma	7249	TSC2	ORPHA:805
HP:0009718	Subependymal giant-cell astrocytoma	3458	IFNG	OMIM:613254
HP:0009718	Subependymal giant-cell astrocytoma	3458	IFNG	ORPHA:805
HP:0009718	Subependymal giant-cell astrocytoma	7248	TSC1	ORPHA:805
HP:0009715	Papillary cystadenoma of the epididymis	1387	CREBBP	OMIM:180849
HP:0009715	Papillary cystadenoma of the epididymis	2033	EP300	OMIM:180849
HP:0009715	Papillary cystadenoma of the epididymis	7428	VHL	ORPHA:892
HP:0009715	Papillary cystadenoma of the epididymis	7428	VHL	OMIM:193300
HP:0009715	Papillary cystadenoma of the epididymis	595	CCND1	ORPHA:892
HP:0009715	Papillary cystadenoma of the epididymis	595	CCND1	OMIM:193300
HP:0009715	Papillary cystadenoma of the epididymis	6928	HNF1B	ORPHA:93111
HP:0009720	Adenoma sebaceum	4292	MLH1	OMIM:158320
HP:0009720	Adenoma sebaceum	4292	MLH1	ORPHA:587
HP:0009720	Adenoma sebaceum	4436	MSH2	OMIM:158320
HP:0009720	Adenoma sebaceum	4436	MSH2	ORPHA:587
HP:0009720	Adenoma sebaceum	3265	HRAS	ORPHA:2612
HP:0009720	Adenoma sebaceum	3845	KRAS	ORPHA:2612
HP:0009720	Adenoma sebaceum	4893	NRAS	ORPHA:2612
HP:0009720	Adenoma sebaceum	7249	TSC2	OMIM:613254
HP:0009720	Adenoma sebaceum	3458	IFNG	OMIM:613254
HP:0009720	Adenoma sebaceum	2956	MSH6	ORPHA:587
HP:0009720	Adenoma sebaceum	10483	SEC23B	ORPHA:201
HP:0009720	Adenoma sebaceum	5728	PTEN	ORPHA:201
HP:0009720	Adenoma sebaceum	6390	SDHB	ORPHA:201
HP:0009720	Adenoma sebaceum	6392	SDHD	ORPHA:201
HP:0009720	Adenoma sebaceum	6391	SDHC	ORPHA:201
HP:0009720	Adenoma sebaceum	207	AKT1	ORPHA:201
HP:0009720	Adenoma sebaceum	205717	USF3	ORPHA:201
HP:0009720	Adenoma sebaceum	5290	PIK3CA	ORPHA:201
HP:0009720	Adenoma sebaceum	100144748	KLLN	ORPHA:201
HP:0009720	Adenoma sebaceum	5333	PLCD1	ORPHA:2387
HP:0009720	Adenoma sebaceum	7248	TSC1	OMIM:191100
HP:0009720	Adenoma sebaceum	4221	MEN1	OMIM:131100
HP:0009720	Adenoma sebaceum	3872	KRT17	ORPHA:841
HP:0009721	Shagreen patch	7249	TSC2	OMIM:613254
HP:0009721	Shagreen patch	7249	TSC2	ORPHA:805
HP:0009721	Shagreen patch	7249	TSC2	ORPHA:538
HP:0009721	Shagreen patch	3458	IFNG	OMIM:613254
HP:0009721	Shagreen patch	3458	IFNG	ORPHA:805
HP:0009721	Shagreen patch	7248	TSC1	ORPHA:805
HP:0009721	Shagreen patch	7248	TSC1	OMIM:191100
HP:0009721	Shagreen patch	7248	TSC1	ORPHA:538
HP:0009721	Shagreen patch	5728	PTEN	ORPHA:2969
HP:0009721	Shagreen patch	29957	SLC25A24	ORPHA:2963
HP:0009722	Dental enamel pits	1834	DSPP	OMIM:125500
HP:0009722	Dental enamel pits	258	AMBN	OMIM:616270
HP:0009722	Dental enamel pits	7248	TSC1	OMIM:191100
HP:0009722	Dental enamel pits	1747	DLX3	ORPHA:3352
HP:0009722	Dental enamel pits	3914	LAMB3	OMIM:104530
HP:0009722	Dental enamel pits	1308	COL17A1	OMIM:619787
HP:0009722	Dental enamel pits	1308	COL17A1	ORPHA:251393
HP:0009722	Dental enamel pits	3691	ITGB4	ORPHA:251393
HP:0009722	Dental enamel pits	3694	ITGB6	OMIM:616221
HP:0009723	Abnormality of the subungual region	51360	MBTPS2	OMIM:300918
HP:0009723	Abnormality of the subungual region	51360	MBTPS2	OMIM:308205
HP:0009723	Abnormality of the subungual region	126695	KDF1	OMIM:617337
HP:0009723	Abnormality of the subungual region	79092	CARD14	OMIM:173200
HP:0009723	Abnormality of the subungual region	79092	CARD14	ORPHA:2897
HP:0009723	Abnormality of the subungual region	3861	KRT14	ORPHA:69087
HP:0009723	Abnormality of the subungual region	3728	JUP	OMIM:601214
HP:0009723	Abnormality of the subungual region	3872	KRT17	OMIM:167210
HP:0009723	Abnormality of the subungual region	162514	TRPV3	OMIM:614594
HP:0009723	Abnormality of the subungual region	488	ATP2A2	ORPHA:218
HP:0009723	Abnormality of the subungual region	488	ATP2A2	OMIM:124200
HP:0009723	Abnormality of the subungual region	1294	COL7A1	ORPHA:79411
HP:0009723	Abnormality of the subungual region	7249	TSC2	OMIM:613254
HP:0009723	Abnormality of the subungual region	3458	IFNG	OMIM:613254
HP:0009723	Abnormality of the subungual region	7248	TSC1	OMIM:191100
HP:0009724	Subungual fibromas	7249	TSC2	OMIM:613254
HP:0009724	Subungual fibromas	3458	IFNG	OMIM:613254
HP:0009724	Subungual fibromas	7248	TSC1	OMIM:191100
HP:0002561	Absent nipple	9896	FIG4	OMIM:216340
HP:0002561	Absent nipple	1896	EDA	OMIM:305100
HP:0002561	Absent nipple	8626	TP63	ORPHA:69085
HP:0002561	Absent nipple	8626	TP63	ORPHA:978
HP:0002561	Absent nipple	8626	TP63	OMIM:103285
HP:0002561	Absent nipple	340419	RSPO2	OMIM:618021
HP:0002561	Absent nipple	5792	PTPRF	OMIM:616001
HP:0002561	Absent nipple	128178	EDARADD	OMIM:614940
HP:0002561	Absent nipple	128178	EDARADD	OMIM:614941
HP:0002561	Absent nipple	29957	SLC25A24	OMIM:612289
HP:0002561	Absent nipple	117581	TWIST2	OMIM:209885
HP:0002561	Absent nipple	1009	CDH11	ORPHA:1299
HP:0002561	Absent nipple	8085	KMT2D	OMIM:620186
HP:0002562	Low-set nipples	9487	PIGL	OMIM:280000
HP:0002562	Low-set nipples	7994	KAT6A	OMIM:616268
HP:0002562	Low-set nipples	404672	GTF2H5	ORPHA:33364
HP:0002562	Low-set nipples	833	CARS1	ORPHA:33364
HP:0002562	Low-set nipples	2068	ERCC2	ORPHA:33364
HP:0002562	Low-set nipples	7737	RNF113A	ORPHA:33364
HP:0002562	Low-set nipples	136647	MPLKIP	ORPHA:33364
HP:0002562	Low-set nipples	6897	TARS1	ORPHA:33364
HP:0002562	Low-set nipples	2071	ERCC3	ORPHA:33364
HP:0002562	Low-set nipples	2961	GTF2E2	ORPHA:33364
HP:0002562	Low-set nipples	3020	H3-3A	OMIM:619720
HP:0002563	Constrictive pericarditis	10216	PRG4	OMIM:208250
HP:0030680	Abnormality of cardiovascular system morphology	7450	VWF	OMIM:193400
HP:0030680	Abnormality of cardiovascular system morphology	5295	PIK3R1	OMIM:269880
HP:0030680	Abnormality of cardiovascular system morphology	716	C1S	OMIM:617174
HP:0030680	Abnormality of cardiovascular system morphology	5831	PYCR1	OMIM:612940
HP:0030680	Abnormality of cardiovascular system morphology	5831	PYCR1	OMIM:614438
HP:0030680	Abnormality of cardiovascular system morphology	10555	AGPAT2	ORPHA:528
HP:0030680	Abnormality of cardiovascular system morphology	2353	FOS	ORPHA:528
HP:0030680	Abnormality of cardiovascular system morphology	857	CAV1	ORPHA:528
HP:0030680	Abnormality of cardiovascular system morphology	25839	COG4	OMIM:618150
HP:0030680	Abnormality of cardiovascular system morphology	715	C1R	OMIM:130080
HP:0030680	Abnormality of cardiovascular system morphology	5159	PDGFRB	OMIM:601812
HP:0030680	Abnormality of cardiovascular system morphology	91252	SLC39A13	OMIM:612350
HP:0030680	Abnormality of cardiovascular system morphology	84919	PPP1R15B	OMIM:616817
HP:0030680	Abnormality of cardiovascular system morphology	7424	VEGFC	OMIM:615907
HP:0030680	Abnormality of cardiovascular system morphology	9791	PTDSS1	OMIM:151050
HP:0030680	Abnormality of cardiovascular system morphology	11128	POLR3A	OMIM:264090
HP:0030680	Abnormality of cardiovascular system morphology	11128	POLR3A	ORPHA:3455
HP:0030680	Abnormality of cardiovascular system morphology	84168	ANTXR1	OMIM:230740
HP:0030680	Abnormality of cardiovascular system morphology	1282	COL4A1	OMIM:180000
HP:0030680	Abnormality of cardiovascular system morphology	1282	COL4A1	OMIM:611773
HP:0030680	Abnormality of cardiovascular system morphology	1282	COL4A1	OMIM:175780
HP:0030680	Abnormality of cardiovascular system morphology	6804	STX1A	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	7461	CLIP2	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	84277	DNAJC30	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	8468	FKBP6	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	5982	RFC2	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	2969	GTF2I	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	3984	LIMK1	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	9569	GTF2IRD1	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	155382	VPS37D	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	155368	METTL27	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	114049	BUD23	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	7458	EIF4H	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	84163	GTF2IRD2	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	9275	BCL7B	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	26608	TBL2	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	653361	NCF1	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	135886	TMEM270	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	51085	MLXIPL	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	51085	MLXIPL	OMIM:194050
HP:0030680	Abnormality of cardiovascular system morphology	9031	BAZ1B	ORPHA:904
HP:0030680	Abnormality of cardiovascular system morphology	4693	NDP	ORPHA:90050
HP:0030680	Abnormality of cardiovascular system morphology	4041	LRP5	ORPHA:90050
HP:0030680	Abnormality of cardiovascular system morphology	8322	FZD4	ORPHA:90050
HP:0030680	Abnormality of cardiovascular system morphology	4508	MT-ATP6	ORPHA:644
HP:0030680	Abnormality of cardiovascular system morphology	1312	COMT	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	221037	JMJD1C	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	2812	GP1BB	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	6239	RREB1	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	6899	TBX1	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	7290	HIRA	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	9632	SEC24C	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	7353	UFD1	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	421	ARVCF	ORPHA:567
HP:0030680	Abnormality of cardiovascular system morphology	5447	POR	OMIM:201750
HP:0030680	Abnormality of cardiovascular system morphology	5977	DPF2	OMIM:618027
HP:0030680	Abnormality of cardiovascular system morphology	91179	SCARF2	OMIM:600920
HP:0030680	Abnormality of cardiovascular system morphology	117581	TWIST2	OMIM:200110
HP:0030680	Abnormality of cardiovascular system morphology	54870	QRICH1	OMIM:617982
HP:0030680	Abnormality of cardiovascular system morphology	202018	TAPT1	OMIM:616897
HP:0030680	Abnormality of cardiovascular system morphology	55784	MCTP2	ORPHA:1596
HP:0030680	Abnormality of cardiovascular system morphology	55690	PACS1	OMIM:615009
HP:0030680	Abnormality of cardiovascular system morphology	55690	PACS1	ORPHA:329224
HP:0030680	Abnormality of cardiovascular system morphology	775	CACNA1C	OMIM:601005
HP:0030680	Abnormality of cardiovascular system morphology	84992	PIGY	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	84720	PIGO	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	93210	PGAP3	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	284098	PIGW	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	27315	PGAP2	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	55650	PIGV	ORPHA:247262
HP:0030680	Abnormality of cardiovascular system morphology	3190	HNRNPK	OMIM:616580
HP:0030680	Abnormality of cardiovascular system morphology	84231	TRAF7	OMIM:618164
HP:0030680	Abnormality of cardiovascular system morphology	10463	SLC30A9	OMIM:617595
HP:0030680	Abnormality of cardiovascular system morphology	10274	STAG1	OMIM:617635
HP:0030680	Abnormality of cardiovascular system morphology	7473	WNT3	OMIM:273395
HP:0030680	Abnormality of cardiovascular system morphology	3239	HOXD13	ORPHA:887
HP:0030680	Abnormality of cardiovascular system morphology	11011	TLK2	OMIM:618050
HP:0030680	Abnormality of cardiovascular system morphology	1656	DDX6	OMIM:618653
HP:0030680	Abnormality of cardiovascular system morphology	54903	MKS1	OMIM:249000
HP:0030680	Abnormality of cardiovascular system morphology	23384	SPECC1L	OMIM:145420
HP:0030680	Abnormality of cardiovascular system morphology	5062	PAK2	OMIM:618458
HP:0030680	Abnormality of cardiovascular system morphology	79633	FAT4	OMIM:615546
HP:0030680	Abnormality of cardiovascular system morphology	4524	MTHFR	ORPHA:395
HP:0030680	Abnormality of cardiovascular system morphology	4524	MTHFR	OMIM:236250
HP:0030680	Abnormality of cardiovascular system morphology	55503	TRPV6	OMIM:618188
HP:0030680	Abnormality of cardiovascular system morphology	5009	OTC	OMIM:311250
HP:0030680	Abnormality of cardiovascular system morphology	7174	TPP2	ORPHA:444463
HP:0030680	Abnormality of cardiovascular system morphology	2908	NR3C1	ORPHA:786
HP:0030680	Abnormality of cardiovascular system morphology	2908	NR3C1	ORPHA:96253
HP:0030680	Abnormality of cardiovascular system morphology	9342	SNAP29	ORPHA:66631
HP:0030680	Abnormality of cardiovascular system morphology	10560	SLC19A2	ORPHA:49827
HP:0030680	Abnormality of cardiovascular system morphology	10560	SLC19A2	OMIM:249270
HP:0030680	Abnormality of cardiovascular system morphology	11093	ADAMTS13	OMIM:274150
HP:0030680	Abnormality of cardiovascular system morphology	50940	PDE11A	ORPHA:1359
HP:0030680	Abnormality of cardiovascular system morphology	84196	USP48	ORPHA:96253
HP:0030680	Abnormality of cardiovascular system morphology	7157	TP53	ORPHA:96253
HP:0030680	Abnormality of cardiovascular system morphology	9101	USP8	ORPHA:96253
HP:0030680	Abnormality of cardiovascular system morphology	64072	CDH23	ORPHA:96253
HP:0030680	Abnormality of cardiovascular system morphology	3043	HBB	OMIM:603903
HP:0030680	Abnormality of cardiovascular system morphology	4352	MPL	ORPHA:729
HP:0030680	Abnormality of cardiovascular system morphology	54790	TET2	ORPHA:729
HP:0030680	Abnormality of cardiovascular system morphology	5346	PLIN1	OMIM:613877
HP:0030680	Abnormality of cardiovascular system morphology	128989	TANGO2	ORPHA:480864
HP:0030680	Abnormality of cardiovascular system morphology	5277	PIGA	ORPHA:447
HP:0030680	Abnormality of cardiovascular system morphology	4204	MECP2	ORPHA:3077
HP:0030680	Abnormality of cardiovascular system morphology	2982	GUCY1A1	ORPHA:401945
HP:0030680	Abnormality of cardiovascular system morphology	28976	ACAD9	OMIM:611126
HP:0030680	Abnormality of cardiovascular system morphology	2147	F2	OMIM:601367
HP:0030680	Abnormality of cardiovascular system morphology	4846	NOS3	OMIM:601367
HP:0030680	Abnormality of cardiovascular system morphology	5583	PRKCH	OMIM:601367
HP:0030680	Abnormality of cardiovascular system morphology	2153	F5	OMIM:601367
HP:0030680	Abnormality of cardiovascular system morphology	241	ALOX5AP	OMIM:601367
HP:0030680	Abnormality of cardiovascular system morphology	162417	NAGS	ORPHA:927
HP:0030680	Abnormality of cardiovascular system morphology	445	ASS1	OMIM:215700
HP:0030680	Abnormality of cardiovascular system morphology	875	CBS	OMIM:236200
HP:0030680	Abnormality of cardiovascular system morphology	5286	PIK3C2A	ORPHA:557003
HP:0030680	Abnormality of cardiovascular system morphology	1373	CPS1	OMIM:237300
HP:0030680	Abnormality of cardiovascular system morphology	7535	ZAP70	ORPHA:911
HP:0030680	Abnormality of cardiovascular system morphology	4594	MMUT	ORPHA:79312
HP:0030680	Abnormality of cardiovascular system morphology	25978	CHMP2B	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	2896	GRN	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	54664	TMEM106B	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	4137	MAPT	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	54209	TREM2	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	7415	VCP	ORPHA:100070
HP:0030680	Abnormality of cardiovascular system morphology	1471	CST3	OMIM:105150
HP:0030680	Abnormality of cardiovascular system morphology	1471	CST3	ORPHA:100008
HP:0030680	Abnormality of cardiovascular system morphology	3717	JAK2	OMIM:133100
HP:0030680	Abnormality of cardiovascular system morphology	3717	JAK2	OMIM:263300
HP:0030680	Abnormality of cardiovascular system morphology	10019	SH2B3	OMIM:133100
HP:0030680	Abnormality of cardiovascular system morphology	2057	EPOR	OMIM:133100
HP:0030680	Abnormality of cardiovascular system morphology	2677	GGCX	OMIM:277450
HP:0030680	Abnormality of cardiovascular system morphology	1743	DLST	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	4191	MDH2	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	23095	KIF1B	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	2271	FH	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	8402	SLC25A11	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	54949	SDHAF2	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	6391	SDHC	ORPHA:29072
HP:0030680	Abnormality of cardiovascular system morphology	8314	BAP1	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	4771	NF2	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	6598	SMARCB1	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	5155	PDGFB	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	6608	SMO	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	207	AKT1	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	7015	TERT	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	51684	SUFU	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	6605	SMARCE1	ORPHA:2495
HP:0030680	Abnormality of cardiovascular system morphology	8517	IKBKG	OMIM:301081
HP:0030680	Abnormality of cardiovascular system morphology	2335	FN1	ORPHA:84090
HP:0030680	Abnormality of cardiovascular system morphology	11235	PDCD10	OMIM:603285
HP:0030680	Abnormality of cardiovascular system morphology	11235	PDCD10	ORPHA:221061
HP:0030680	Abnormality of cardiovascular system morphology	83605	CCM2	OMIM:603284
HP:0030680	Abnormality of cardiovascular system morphology	83605	CCM2	ORPHA:221061
HP:0030680	Abnormality of cardiovascular system morphology	889	KRIT1	ORPHA:221061
HP:0030680	Abnormality of cardiovascular system morphology	351	APP	ORPHA:324713
HP:0030680	Abnormality of cardiovascular system morphology	351	APP	ORPHA:324703
HP:0030680	Abnormality of cardiovascular system morphology	351	APP	ORPHA:324708
HP:0030680	Abnormality of cardiovascular system morphology	351	APP	ORPHA:100006
HP:0030680	Abnormality of cardiovascular system morphology	3075	CFH	ORPHA:244242
HP:0030680	Abnormality of cardiovascular system morphology	3426	CFI	ORPHA:244242
HP:0030680	Abnormality of cardiovascular system morphology	4179	CD46	ORPHA:244242
HP:0030680	Abnormality of cardiovascular system morphology	101101692	HELLPAR	ORPHA:244242
HP:0030680	Abnormality of cardiovascular system morphology	2165	F13B	ORPHA:331
HP:0030680	Abnormality of cardiovascular system morphology	2162	F13A1	ORPHA:331
HP:0030680	Abnormality of cardiovascular system morphology	442721	LMOD2	OMIM:619897
HP:0030680	Abnormality of cardiovascular system morphology	11274	USP18	OMIM:617397
HP:0030680	Abnormality of cardiovascular system morphology	727676	SNORD118	ORPHA:542310
HP:0030680	Abnormality of cardiovascular system morphology	6773	STAT2	OMIM:618886
HP:0030680	Abnormality of cardiovascular system morphology	79184	BRCC3	ORPHA:280679
HP:0030680	Abnormality of cardiovascular system morphology	1788	DNMT3A	ORPHA:276621
HP:0030680	Abnormality of cardiovascular system morphology	2034	EPAS1	ORPHA:276621
HP:0030680	Abnormality of cardiovascular system morphology	9103	FCGR2C	ORPHA:3002
HP:0030680	Abnormality of cardiovascular system morphology	10682	EBP	ORPHA:401973
HP:0030680	Abnormality of cardiovascular system morphology	7355	SLC35A2	ORPHA:356961
HP:0030680	Abnormality of cardiovascular system morphology	3767	KCNJ11	ORPHA:99885
HP:0030680	Abnormality of cardiovascular system morphology	3767	KCNJ11	ORPHA:99886
HP:0030680	Abnormality of cardiovascular system morphology	2645	GCK	ORPHA:99885
HP:0030680	Abnormality of cardiovascular system morphology	3651	PDX1	ORPHA:99885
HP:0030680	Abnormality of cardiovascular system morphology	6833	ABCC8	ORPHA:99885
HP:0030680	Abnormality of cardiovascular system morphology	6833	ABCC8	ORPHA:99886
HP:0030680	Abnormality of cardiovascular system morphology	3630	INS	ORPHA:99885
HP:0030680	Abnormality of cardiovascular system morphology	2067	ERCC1	OMIM:610758
HP:0030680	Abnormality of cardiovascular system morphology	346171	ZFP57	ORPHA:99886
HP:0030680	Abnormality of cardiovascular system morphology	79631	EFL1	ORPHA:811
HP:0030680	Abnormality of cardiovascular system morphology	51132	RLIM	OMIM:300978
HP:0030680	Abnormality of cardiovascular system morphology	5339	PLEC	ORPHA:79401
HP:0030680	Abnormality of cardiovascular system morphology	55863	TMEM126B	OMIM:618250
HP:0030680	Abnormality of cardiovascular system morphology	26053	AUTS2	ORPHA:352490
HP:0030680	Abnormality of cardiovascular system morphology	26040	SETBP1	ORPHA:798
HP:0030680	Abnormality of cardiovascular system morphology	9056	SLC7A7	ORPHA:470
HP:0030680	Abnormality of cardiovascular system morphology	23233	EXOC6B	ORPHA:93359
HP:0030680	Abnormality of cardiovascular system morphology	56052	ALG1	ORPHA:79327
HP:0030680	Abnormality of cardiovascular system morphology	2887	GRB10	ORPHA:96182
HP:0030680	Abnormality of cardiovascular system morphology	1457	CSNK2A1	OMIM:617062
HP:0030680	Abnormality of cardiovascular system morphology	58508	KMT2C	ORPHA:261652
HP:0030680	Abnormality of cardiovascular system morphology	27086	FOXP1	ORPHA:391372
HP:0030680	Abnormality of cardiovascular system morphology	6288	SAA1	ORPHA:85445
HP:0030680	Abnormality of cardiovascular system morphology	8642	DCHS1	ORPHA:314679
HP:0030680	Abnormality of cardiovascular system morphology	2625	GATA3	ORPHA:2237
HP:0030680	Abnormality of cardiovascular system morphology	55681	SCYL2	ORPHA:1143
HP:0030680	Abnormality of cardiovascular system morphology	84570	COL25A1	ORPHA:1143
HP:0030680	Abnormality of cardiovascular system morphology	10210	TOPORS	ORPHA:2754
HP:0030680	Abnormality of cardiovascular system morphology	9851	KIAA0753	ORPHA:2754
HP:0030680	Abnormality of cardiovascular system morphology	5147	PDE6D	ORPHA:2754
HP:0030680	Abnormality of cardiovascular system morphology	317662	FAM149B1	ORPHA:2754
HP:0030680	Abnormality of cardiovascular system morphology	26173	INTS1	OMIM:618571
HP:0030680	Abnormality of cardiovascular system morphology	5813	PURA	ORPHA:314655
HP:0030680	Abnormality of cardiovascular system morphology	8036	SHOC2	OMIM:607721
HP:0030680	Abnormality of cardiovascular system morphology	28981	IFT81	OMIM:617895
HP:0030680	Abnormality of cardiovascular system morphology	81857	MED25	OMIM:616449
HP:0030680	Abnormality of cardiovascular system morphology	81857	MED25	ORPHA:464738
HP:0030680	Abnormality of cardiovascular system morphology	91801	ALKBH8	OMIM:618504
HP:0030680	Abnormality of cardiovascular system morphology	55209	SETD5	ORPHA:404440
HP:0030680	Abnormality of cardiovascular system morphology	79639	TMEM53	OMIM:619727
HP:0030680	Abnormality of cardiovascular system morphology	815	CAMK2A	OMIM:617798
HP:0030680	Abnormality of cardiovascular system morphology	6926	TBX3	OMIM:181450
HP:0030680	Abnormality of cardiovascular system morphology	6926	TBX3	ORPHA:3138
HP:0030680	Abnormality of cardiovascular system morphology	93627	TBCK	ORPHA:488632
HP:0030680	Abnormality of cardiovascular system morphology	51633	OTUD6B	OMIM:617452
HP:0030680	Abnormality of cardiovascular system morphology	51633	OTUD6B	ORPHA:505237
HP:0030680	Abnormality of cardiovascular system morphology	150468	CKAP2L	OMIM:272440
HP:0030680	Abnormality of cardiovascular system morphology	150468	CKAP2L	ORPHA:3255
HP:0030680	Abnormality of cardiovascular system morphology	200424	TET3	OMIM:618798
HP:0030680	Abnormality of cardiovascular system morphology	2542	SLC37A4	OMIM:619525
HP:0030680	Abnormality of cardiovascular system morphology	8565	YARS1	OMIM:619418
HP:0030680	Abnormality of cardiovascular system morphology	23499	MACF1	OMIM:618325
HP:0030680	Abnormality of cardiovascular system morphology	3930	LBR	OMIM:169400
HP:0030680	Abnormality of cardiovascular system morphology	404672	GTF2H5	ORPHA:33364
HP:0030680	Abnormality of cardiovascular system morphology	7737	RNF113A	ORPHA:33364
HP:0030680	Abnormality of cardiovascular system morphology	136647	MPLKIP	ORPHA:33364
HP:0030680	Abnormality of cardiovascular system morphology	136647	MPLKIP	OMIM:234050
HP:0030680	Abnormality of cardiovascular system morphology	6897	TARS1	ORPHA:33364
HP:0030680	Abnormality of cardiovascular system morphology	2961	GTF2E2	ORPHA:33364
HP:0030680	Abnormality of cardiovascular system morphology	8621	CDK13	OMIM:617360
HP:0030680	Abnormality of cardiovascular system morphology	1892	ECHS1	OMIM:616277
HP:0030680	Abnormality of cardiovascular system morphology	1892	ECHS1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	55770	EXOC2	OMIM:619306
HP:0030680	Abnormality of cardiovascular system morphology	6792	CDKL5	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	3736	KCNA1	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	9091	PIGQ	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	2775	GNAO1	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	81603	TRIM8	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	2902	GRIN1	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	79751	SLC25A22	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	150094	SIK1	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	8573	CASK	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	23312	DMXL2	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	2917	GRM7	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	11284	PNKP	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	6326	SCN2A	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	51227	PIGP	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	4761	NEUROD2	ORPHA:1934
HP:0030680	Abnormality of cardiovascular system morphology	23314	SATB2	ORPHA:251028
HP:0030680	Abnormality of cardiovascular system morphology	372	ARCN1	OMIM:617164
HP:0030680	Abnormality of cardiovascular system morphology	6304	SATB1	OMIM:619229
HP:0030680	Abnormality of cardiovascular system morphology	9343	EFTUD2	OMIM:610536
HP:0030680	Abnormality of cardiovascular system morphology	407975	MIR17HG	ORPHA:391646
HP:0030680	Abnormality of cardiovascular system morphology	5297	PI4KA	ORPHA:436252
HP:0030680	Abnormality of cardiovascular system morphology	57217	TTC7A	ORPHA:436252
HP:0030680	Abnormality of cardiovascular system morphology	57217	TTC7A	OMIM:243150
HP:0030680	Abnormality of cardiovascular system morphology	3643	INSR	ORPHA:769
HP:0030680	Abnormality of cardiovascular system morphology	26128	KIFBP	OMIM:609460
HP:0030680	Abnormality of cardiovascular system morphology	83700	JAM3	OMIM:613730
HP:0030680	Abnormality of cardiovascular system morphology	1801	DPH1	OMIM:616901
HP:0030680	Abnormality of cardiovascular system morphology	4036	LRP2	ORPHA:2143
HP:0030680	Abnormality of cardiovascular system morphology	4036	LRP2	OMIM:222448
HP:0030680	Abnormality of cardiovascular system morphology	5828	PEX2	OMIM:614866
HP:0030680	Abnormality of cardiovascular system morphology	5828	PEX2	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	55719	SLF2	OMIM:620184
HP:0030680	Abnormality of cardiovascular system morphology	6558	SLC12A2	OMIM:619083
HP:0030680	Abnormality of cardiovascular system morphology	10236	HNRNPR	OMIM:620073
HP:0030680	Abnormality of cardiovascular system morphology	9409	PEX16	OMIM:614876
HP:0030680	Abnormality of cardiovascular system morphology	9409	PEX16	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	51244	CCDC174	OMIM:616816
HP:0030680	Abnormality of cardiovascular system morphology	10324	KLHL41	OMIM:615731
HP:0030680	Abnormality of cardiovascular system morphology	667	DST	OMIM:614653
HP:0030680	Abnormality of cardiovascular system morphology	55670	PEX26	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	8504	PEX3	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	8799	PEX11B	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	5190	PEX6	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	5194	PEX13	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	5195	PEX14	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	5192	PEX10	ORPHA:912
HP:0030680	Abnormality of cardiovascular system morphology	26160	IFT172	OMIM:615630
HP:0030680	Abnormality of cardiovascular system morphology	83479	DDX59	OMIM:174300
HP:0030680	Abnormality of cardiovascular system morphology	5160	PDHA1	ORPHA:79243
HP:0030680	Abnormality of cardiovascular system morphology	5160	PDHA1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	6606	SMN1	OMIM:253300
HP:0030680	Abnormality of cardiovascular system morphology	3209	HOXA13	ORPHA:2438
HP:0030680	Abnormality of cardiovascular system morphology	7074	TIAM1	OMIM:619908
HP:0030680	Abnormality of cardiovascular system morphology	157680	VPS13B	ORPHA:193
HP:0030680	Abnormality of cardiovascular system morphology	10367	MICU1	OMIM:615673
HP:0030680	Abnormality of cardiovascular system morphology	80704	SLC19A3	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	91942	NDUFAF2	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4723	NDUFV1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	55572	FOXRED1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4729	NDUFV2	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	55967	NDUFA12	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	51204	TACO1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4728	NDUFS8	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	137682	NDUFAF6	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4722	NDUFS3	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	79133	NDUFAF5	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	1355	COX15	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	51079	NDUFA13	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	374291	NDUFS7	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4705	NDUFA10	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	51601	LIPT1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4719	NDUFS1	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4695	NDUFA2	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4697	NDUFA4	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	4704	NDUFA9	ORPHA:255241
HP:0030680	Abnormality of cardiovascular system morphology	51780	KDM3B	OMIM:618846
HP:0030680	Abnormality of cardiovascular system morphology	1663	DDX11	OMIM:613398
HP:0030680	Abnormality of cardiovascular system morphology	8792	TNFRSF11A	ORPHA:1782
HP:0030680	Abnormality of cardiovascular system morphology	9439	MED23	OMIM:614249
HP:0030680	Abnormality of cardiovascular system morphology	124583	CANT1	ORPHA:1425
HP:0030680	Abnormality of cardiovascular system morphology	23334	SZT2	OMIM:615476
HP:0030680	Abnormality of cardiovascular system morphology	28960	DCPS	OMIM:616459
HP:0030680	Abnormality of cardiovascular system morphology	8558	CDK10	OMIM:617694
HP:0030680	Abnormality of cardiovascular system morphology	7385	UQCRC2	OMIM:615160
HP:0030680	Abnormality of cardiovascular system morphology	1363	CPE	OMIM:619326
HP:0030680	Abnormality of cardiovascular system morphology	51114	ZDHHC9	ORPHA:776
HP:0030680	Abnormality of cardiovascular system morphology	65109	UPF3B	ORPHA:776
HP:0030680	Abnormality of cardiovascular system morphology	54551	MAGEL2	ORPHA:398069
HP:0030680	Abnormality of cardiovascular system morphology	3188	HNRNPH2	OMIM:300986
HP:0030680	Abnormality of cardiovascular system morphology	55186	SLC25A36	OMIM:620211
HP:0030680	Abnormality of cardiovascular system morphology	5281	PIGF	OMIM:619356
HP:0030680	Abnormality of cardiovascular system morphology	8452	CUL3	OMIM:619239
HP:0030680	Abnormality of cardiovascular system morphology	51360	MBTPS2	OMIM:308205
HP:0030680	Abnormality of cardiovascular system morphology	84905	ZNF341	OMIM:618282
HP:0030680	Abnormality of cardiovascular system morphology	56992	KIF15	ORPHA:261323
HP:0030680	Abnormality of cardiovascular system morphology	10841	FTCD	ORPHA:51208
HP:0030680	Abnormality of cardiovascular system morphology	6789	STK4	OMIM:614868
HP:0030680	Abnormality of cardiovascular system morphology	3911	LAMA5	OMIM:620076
HP:0030680	Abnormality of cardiovascular system morphology	51574	LARP7	ORPHA:319671
HP:0030680	Abnormality of cardiovascular system morphology	50945	TBX22	ORPHA:921
HP:0030680	Abnormality of cardiovascular system morphology	84978	FRMD5	OMIM:620094
HP:0030680	Abnormality of cardiovascular system morphology	2258	FGF13	OMIM:301058
HP:0030680	Abnormality of cardiovascular system morphology	6857	SYT1	ORPHA:522077
HP:0030680	Abnormality of cardiovascular system morphology	3832	KIF11	ORPHA:2526
HP:0030680	Abnormality of cardiovascular system morphology	2137	EXTL3	ORPHA:508533
HP:0030680	Abnormality of cardiovascular system morphology	84627	ZNF469	OMIM:229200
HP:0030680	Abnormality of cardiovascular system morphology	84627	ZNF469	ORPHA:90354
HP:0030680	Abnormality of cardiovascular system morphology	4054	LTBP3	OMIM:601216
HP:0030680	Abnormality of cardiovascular system morphology	56776	FMN2	OMIM:616193
HP:0030680	Abnormality of cardiovascular system morphology	26278	SACS	ORPHA:98
HP:0030680	Abnormality of cardiovascular system morphology	1280	COL2A1	ORPHA:90653
HP:0030680	Abnormality of cardiovascular system morphology	1280	COL2A1	OMIM:108300
HP:0030680	Abnormality of cardiovascular system morphology	11107	PRDM5	ORPHA:90354
HP:0030680	Abnormality of cardiovascular system morphology	22873	DZIP1	OMIM:610840
HP:0030680	Abnormality of cardiovascular system morphology	161742	SPRED1	ORPHA:137605
HP:0030680	Abnormality of cardiovascular system morphology	3791	KDR	ORPHA:3303
HP:0030680	Abnormality of cardiovascular system morphology	8443	GNPAT	OMIM:222765
HP:0030680	Abnormality of cardiovascular system morphology	26275	HIBCH	ORPHA:88639
HP:0030680	Abnormality of cardiovascular system morphology	26275	HIBCH	OMIM:250620
HP:0030680	Abnormality of cardiovascular system morphology	1147	CHUK	OMIM:613630
HP:0030680	Abnormality of cardiovascular system morphology	7852	CXCR4	ORPHA:51636
HP:0030680	Abnormality of cardiovascular system morphology	8092	ALX1	ORPHA:306542
HP:0030680	Abnormality of cardiovascular system morphology	3579	CXCR2	OMIM:619407
HP:0030680	Abnormality of cardiovascular system morphology	257	ALX3	OMIM:136760
HP:0030680	Abnormality of cardiovascular system morphology	10320	IKZF1	ORPHA:36426
HP:0030680	Abnormality of cardiovascular system morphology	80308	FLAD1	OMIM:255100
HP:0030680	Abnormality of cardiovascular system morphology	246243	RNASEH1	ORPHA:329336
HP:0030680	Abnormality of cardiovascular system morphology	50717	DCAF8	OMIM:610100
HP:0030680	Abnormality of cardiovascular system morphology	4703	NEB	ORPHA:171433
HP:0030680	Abnormality of cardiovascular system morphology	4703	NEB	ORPHA:171439
HP:0030680	Abnormality of cardiovascular system morphology	4703	NEB	ORPHA:399103
HP:0030680	Abnormality of cardiovascular system morphology	1352	COX10	OMIM:619046
HP:0030680	Abnormality of cardiovascular system morphology	25782	RAB3GAP2	OMIM:212720
HP:0030680	Abnormality of cardiovascular system morphology	30061	SLC40A1	OMIM:606069
HP:0030680	Abnormality of cardiovascular system morphology	3908	LAMA2	ORPHA:258
HP:0030680	Abnormality of cardiovascular system morphology	191	AHCY	OMIM:613752
HP:0030680	Abnormality of cardiovascular system morphology	191	AHCY	ORPHA:88618
HP:0030680	Abnormality of cardiovascular system morphology	8878	SQSTM1	ORPHA:603
HP:0030680	Abnormality of cardiovascular system morphology	7072	TIA1	ORPHA:603
HP:0030680	Abnormality of cardiovascular system morphology	9499	MYOT	OMIM:609200
HP:0030680	Abnormality of cardiovascular system morphology	9499	MYOT	ORPHA:98911
HP:0030680	Abnormality of cardiovascular system morphology	10020	GNE	ORPHA:602
HP:0030680	Abnormality of cardiovascular system morphology	10352	WARS2	ORPHA:572798
HP:0030680	Abnormality of cardiovascular system morphology	10352	WARS2	OMIM:617710
HP:0030680	Abnormality of cardiovascular system morphology	51594	NBAS	OMIM:616483
HP:0030680	Abnormality of cardiovascular system morphology	3418	IDH2	OMIM:613657
HP:0030680	Abnormality of cardiovascular system morphology	773	CACNA1A	ORPHA:2131
HP:0030680	Abnormality of cardiovascular system morphology	6507	SLC1A3	ORPHA:2131
HP:0030680	Abnormality of cardiovascular system morphology	477	ATP1A2	ORPHA:2131
HP:0030680	Abnormality of cardiovascular system morphology	478	ATP1A3	ORPHA:2131
HP:0030680	Abnormality of cardiovascular system morphology	493856	CISD2	ORPHA:3463
HP:0030680	Abnormality of cardiovascular system morphology	728294	D2HGDH	OMIM:600721
HP:0030680	Abnormality of cardiovascular system morphology	25973	PARS2	OMIM:618437
HP:0030680	Abnormality of cardiovascular system morphology	3178	HNRNPA1	ORPHA:52430
HP:0030680	Abnormality of cardiovascular system morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0030680	Abnormality of cardiovascular system morphology	390594	KBTBD13	ORPHA:171439
HP:0030680	Abnormality of cardiovascular system morphology	5256	PHKA2	ORPHA:264580
HP:0030680	Abnormality of cardiovascular system morphology	5261	PHKG2	ORPHA:264580
HP:0030680	Abnormality of cardiovascular system morphology	2632	GBE1	OMIM:232500
HP:0030680	Abnormality of cardiovascular system morphology	81570	CLPB	ORPHA:445038
HP:0030680	Abnormality of cardiovascular system morphology	411	ARSB	OMIM:253200
HP:0030680	Abnormality of cardiovascular system morphology	7084	TK2	ORPHA:254886
HP:0030680	Abnormality of cardiovascular system morphology	3714	JAG2	OMIM:619566
HP:0030680	Abnormality of cardiovascular system morphology	2771	GNAI2	OMIM:192605
HP:0030680	Abnormality of cardiovascular system morphology	51095	TRNT1	OMIM:616084
HP:0030680	Abnormality of cardiovascular system morphology	4576	MT-TT	ORPHA:254857
HP:0030680	Abnormality of cardiovascular system morphology	35	ACADS	OMIM:201470
HP:0030680	Abnormality of cardiovascular system morphology	35	ACADS	ORPHA:26792
HP:0030680	Abnormality of cardiovascular system morphology	3257	HPS1	OMIM:203300
HP:0030680	Abnormality of cardiovascular system morphology	3704	ITPA	OMIM:616647
HP:0030680	Abnormality of cardiovascular system morphology	7036	TFR2	OMIM:604250
HP:0030680	Abnormality of cardiovascular system morphology	84197	POMK	ORPHA:370959
HP:0030680	Abnormality of cardiovascular system morphology	55624	POMGNT1	ORPHA:370959
HP:0030680	Abnormality of cardiovascular system morphology	283459	GATC	OMIM:618839
HP:0030680	Abnormality of cardiovascular system morphology	51099	ABHD5	ORPHA:98907
HP:0030680	Abnormality of cardiovascular system morphology	84700	MYO18B	OMIM:616549
HP:0030680	Abnormality of cardiovascular system morphology	55005	RMND1	OMIM:614922
HP:0030680	Abnormality of cardiovascular system morphology	203859	ANO5	ORPHA:206549
HP:0030680	Abnormality of cardiovascular system morphology	51103	NDUFAF1	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	51103	NDUFAF1	OMIM:618234
HP:0030680	Abnormality of cardiovascular system morphology	51300	TIMMDC1	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	4716	NDUFB10	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	284184	NDUFAF8	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	4694	NDUFA1	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	4726	NDUFS6	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	4709	NDUFB3	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	80224	NUBPL	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	29078	NDUFAF4	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	29078	NDUFAF4	OMIM:618237
HP:0030680	Abnormality of cardiovascular system morphology	4700	NDUFA6	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	4715	NDUFB9	ORPHA:2609
HP:0030680	Abnormality of cardiovascular system morphology	26235	FBXL4	OMIM:615471
HP:0030680	Abnormality of cardiovascular system morphology	4570	MT-TN	OMIM:220110
HP:0030680	Abnormality of cardiovascular system morphology	55532	SLC30A10	ORPHA:309854
HP:0030680	Abnormality of cardiovascular system morphology	84334	COA8	ORPHA:436271
HP:0030680	Abnormality of cardiovascular system morphology	84987	COX14	OMIM:619053
HP:0030680	Abnormality of cardiovascular system morphology	1757	SARDH	ORPHA:3129
HP:0030680	Abnormality of cardiovascular system morphology	7274	TTPA	ORPHA:96
HP:0030680	Abnormality of cardiovascular system morphology	514	ATP5F1E	OMIM:614053
HP:0030680	Abnormality of cardiovascular system morphology	65080	MRPL44	OMIM:615395
HP:0030680	Abnormality of cardiovascular system morphology	4556	MT-TE	ORPHA:225
HP:0030680	Abnormality of cardiovascular system morphology	55210	ATAD3A	ORPHA:496790
HP:0030680	Abnormality of cardiovascular system morphology	55210	ATAD3A	OMIM:618810
HP:0030680	Abnormality of cardiovascular system morphology	55210	ATAD3A	OMIM:617183
HP:0030680	Abnormality of cardiovascular system morphology	2395	FXN	OMIM:229300
HP:0030680	Abnormality of cardiovascular system morphology	84833	ATP5MK	OMIM:618683
HP:0030680	Abnormality of cardiovascular system morphology	10661	KLF1	OMIM:613673
HP:0030680	Abnormality of cardiovascular system morphology	125988	MICOS13	OMIM:618329
HP:0030680	Abnormality of cardiovascular system morphology	2184	FAH	OMIM:276700
HP:0030680	Abnormality of cardiovascular system morphology	5836	PYGL	ORPHA:369
HP:0030680	Abnormality of cardiovascular system morphology	5837	PYGM	ORPHA:368
HP:0030680	Abnormality of cardiovascular system morphology	2010	EMD	ORPHA:98863
HP:0030680	Abnormality of cardiovascular system morphology	56246	MRAP	ORPHA:361
HP:0030680	Abnormality of cardiovascular system morphology	6770	STAR	ORPHA:361
HP:0030680	Abnormality of cardiovascular system morphology	4158	MC2R	ORPHA:361
HP:0030680	Abnormality of cardiovascular system morphology	23530	NNT	ORPHA:361
HP:0030680	Abnormality of cardiovascular system morphology	51067	YARS2	OMIM:613561
HP:0030680	Abnormality of cardiovascular system morphology	58497	PRUNE1	ORPHA:544469
HP:0030680	Abnormality of cardiovascular system morphology	7351	UCP2	ORPHA:276556
HP:0030680	Abnormality of cardiovascular system morphology	1738	DLD	OMIM:246900
HP:0030680	Abnormality of cardiovascular system morphology	5250	SLC25A3	ORPHA:91130
HP:0030680	Abnormality of cardiovascular system morphology	5250	SLC25A3	OMIM:610773
HP:0030680	Abnormality of cardiovascular system morphology	55750	AGK	ORPHA:1369
HP:0030680	Abnormality of cardiovascular system morphology	55750	AGK	OMIM:212350
HP:0030680	Abnormality of cardiovascular system morphology	56945	MRPS22	OMIM:611719
HP:0030680	Abnormality of cardiovascular system morphology	63931	MRPS14	OMIM:618378
HP:0030680	Abnormality of cardiovascular system morphology	7289	TULP3	OMIM:619902
HP:0030680	Abnormality of cardiovascular system morphology	11019	LIAS	OMIM:614462
HP:0030680	Abnormality of cardiovascular system morphology	7167	TPI1	ORPHA:868
HP:0030680	Abnormality of cardiovascular system morphology	60528	ELAC2	OMIM:615440
HP:0030680	Abnormality of cardiovascular system morphology	55278	QRSL1	OMIM:618835
HP:0030680	Abnormality of cardiovascular system morphology	4976	OPA1	OMIM:616896
HP:0030680	Abnormality of cardiovascular system morphology	57570	TRMT5	OMIM:616539
HP:0030680	Abnormality of cardiovascular system morphology	617	BCS1L	OMIM:124000
HP:0030680	Abnormality of cardiovascular system morphology	84233	TMEM126A	OMIM:612989
HP:0030680	Abnormality of cardiovascular system morphology	129285	PPP1R21	OMIM:619383
HP:0030680	Abnormality of cardiovascular system morphology	9054	NFS1	OMIM:619386
HP:0030680	Abnormality of cardiovascular system morphology	22868	FASTKD2	OMIM:618855
HP:0030680	Abnormality of cardiovascular system morphology	5191	PEX7	OMIM:266500
HP:0030680	Abnormality of cardiovascular system morphology	5264	PHYH	OMIM:266500
HP:0030680	Abnormality of cardiovascular system morphology	4547	MTTP	ORPHA:14
HP:0030680	Abnormality of cardiovascular system morphology	9377	COX5A	OMIM:619064
HP:0030680	Abnormality of cardiovascular system morphology	3077	HFE	OMIM:235200
HP:0030680	Abnormality of cardiovascular system morphology	3077	HFE	ORPHA:465508
HP:0030680	Abnormality of cardiovascular system morphology	3028	HSD17B10	ORPHA:391428
HP:0030680	Abnormality of cardiovascular system morphology	94005	PIGS	OMIM:618143
HP:0030680	Abnormality of cardiovascular system morphology	2517	FUCA1	OMIM:230000
HP:0030680	Abnormality of cardiovascular system morphology	2517	FUCA1	ORPHA:349
HP:0030680	Abnormality of cardiovascular system morphology	5188	GATB	OMIM:618838
HP:0030680	Abnormality of cardiovascular system morphology	34	ACADM	ORPHA:42
HP:0030680	Abnormality of cardiovascular system morphology	57107	PDSS2	ORPHA:255249
HP:0030680	Abnormality of cardiovascular system morphology	27235	COQ2	ORPHA:255249
HP:0030680	Abnormality of cardiovascular system morphology	26503	SLC17A5	OMIM:269920
HP:0030680	Abnormality of cardiovascular system morphology	1028	CDKN1C	OMIM:130650
HP:0030680	Abnormality of cardiovascular system morphology	3784	KCNQ1	OMIM:130650
HP:0030680	Abnormality of cardiovascular system morphology	1374	CPT1A	OMIM:255120
HP:0030680	Abnormality of cardiovascular system morphology	654	BMP6	ORPHA:465508
HP:0030680	Abnormality of cardiovascular system morphology	57505	AARS2	OMIM:614096
HP:0030680	Abnormality of cardiovascular system morphology	5696	PSMB8	OMIM:256040
HP:0030680	Abnormality of cardiovascular system morphology	51126	NAA20	OMIM:619717
HP:0030680	Abnormality of cardiovascular system morphology	7021	TFAP2B	OMIM:169100
HP:0030680	Abnormality of cardiovascular system morphology	7021	TFAP2B	ORPHA:46627
HP:0030680	Abnormality of cardiovascular system morphology	7021	TFAP2B	OMIM:617035
HP:0030680	Abnormality of cardiovascular system morphology	1131	CHRM3	ORPHA:2970
HP:0030680	Abnormality of cardiovascular system morphology	1131	CHRM3	OMIM:100100
HP:0030680	Abnormality of cardiovascular system morphology	9578	CDC42BPB	OMIM:619841
HP:0030680	Abnormality of cardiovascular system morphology	55790	CSGALNACT1	OMIM:618870
HP:0030680	Abnormality of cardiovascular system morphology	65082	VPS33A	OMIM:617303
HP:0030680	Abnormality of cardiovascular system morphology	65082	VPS33A	ORPHA:505248
HP:0030680	Abnormality of cardiovascular system morphology	3764	KCNJ8	ORPHA:1517
HP:0030680	Abnormality of cardiovascular system morphology	7086	TKT	ORPHA:488618
HP:0030680	Abnormality of cardiovascular system morphology	7086	TKT	OMIM:617044
HP:0030680	Abnormality of cardiovascular system morphology	57231	SNX14	ORPHA:397709
HP:0030680	Abnormality of cardiovascular system morphology	5189	PEX1	OMIM:214100
HP:0030680	Abnormality of cardiovascular system morphology	22884	WDR37	OMIM:618652
HP:0030680	Abnormality of cardiovascular system morphology	57178	ZMIZ1	OMIM:618659
HP:0030680	Abnormality of cardiovascular system morphology	5950	RBP4	OMIM:615147
HP:0030680	Abnormality of cardiovascular system morphology	3476	IGBP1	ORPHA:52055
HP:0030680	Abnormality of cardiovascular system morphology	3476	IGBP1	OMIM:300472
HP:0030680	Abnormality of cardiovascular system morphology	23126	POGZ	OMIM:616364
HP:0030680	Abnormality of cardiovascular system morphology	213	ALB	OMIM:616000
HP:0030680	Abnormality of cardiovascular system morphology	57863	CADM3	OMIM:619519
HP:0030680	Abnormality of cardiovascular system morphology	1859	DYRK1A	ORPHA:464311
HP:0030680	Abnormality of cardiovascular system morphology	4247	MGAT2	ORPHA:79329
HP:0030680	Abnormality of cardiovascular system morphology	7750	ZMYM2	OMIM:619522
HP:0030680	Abnormality of cardiovascular system morphology	79971	WLS	OMIM:619648
HP:0030680	Abnormality of cardiovascular system morphology	51341	ZBTB7A	OMIM:619769
HP:0030680	Abnormality of cardiovascular system morphology	1523	CUX1	OMIM:618330
HP:0030680	Abnormality of cardiovascular system morphology	27429	HTRA2	OMIM:617248
HP:0030680	Abnormality of cardiovascular system morphology	7372	UMPS	ORPHA:30
HP:0030680	Abnormality of cardiovascular system morphology	79068	FTO	OMIM:612938
HP:0030680	Abnormality of cardiovascular system morphology	170302	ARX	ORPHA:452
HP:0030680	Abnormality of cardiovascular system morphology	2530	FUT8	OMIM:618005
HP:0030680	Abnormality of cardiovascular system morphology	93166	PRDM6	OMIM:617039
HP:0030680	Abnormality of cardiovascular system morphology	9496	TBX4	ORPHA:261279
HP:0030680	Abnormality of cardiovascular system morphology	4990	SIX6	OMIM:206900
HP:0030680	Abnormality of cardiovascular system morphology	57003	CCDC47	OMIM:618268
HP:0030680	Abnormality of cardiovascular system morphology	57061	HYMAI	ORPHA:96191
HP:0030680	Abnormality of cardiovascular system morphology	5325	PLAGL1	ORPHA:96191
HP:0030680	Abnormality of cardiovascular system morphology	26005	C2CD3	ORPHA:434179
HP:0030680	Abnormality of cardiovascular system morphology	26005	C2CD3	OMIM:615948
HP:0030680	Abnormality of cardiovascular system morphology	3248	HPGD	OMIM:259100
HP:0030680	Abnormality of cardiovascular system morphology	8239	USP9X	OMIM:300968
HP:0030680	Abnormality of cardiovascular system morphology	8239	USP9X	ORPHA:480880
HP:0030680	Abnormality of cardiovascular system morphology	55252	ASXL2	OMIM:617190
HP:0030680	Abnormality of cardiovascular system morphology	23387	SIK3	OMIM:618162
HP:0030680	Abnormality of cardiovascular system morphology	6748	SSR4	ORPHA:370927
HP:0030680	Abnormality of cardiovascular system morphology	89970	RSPRY1	ORPHA:457395
HP:0030680	Abnormality of cardiovascular system morphology	5557	PRIM1	OMIM:620005
HP:0030680	Abnormality of cardiovascular system morphology	51506	UFC1	OMIM:618076
HP:0030680	Abnormality of cardiovascular system morphology	6812	STXBP1	ORPHA:495818
HP:0030680	Abnormality of cardiovascular system morphology	1889	ECE1	OMIM:613870
HP:0030680	Abnormality of cardiovascular system morphology	132158	GLYCTK	OMIM:220120
HP:0030680	Abnormality of cardiovascular system morphology	55148	UBR7	OMIM:619189
HP:0030680	Abnormality of cardiovascular system morphology	51021	MRPS16	OMIM:610498
HP:0030680	Abnormality of cardiovascular system morphology	79053	ALG8	OMIM:608104
HP:0030680	Abnormality of cardiovascular system morphology	54499	TMCO1	OMIM:213980
HP:0030680	Abnormality of cardiovascular system morphology	23137	SMC5	OMIM:620185
HP:0030680	Abnormality of cardiovascular system morphology	2255	FGF10	ORPHA:2363
HP:0030680	Abnormality of cardiovascular system morphology	8813	DPM1	OMIM:608799
HP:0030680	Abnormality of cardiovascular system morphology	5648	MASP1	OMIM:257920
HP:0030680	Abnormality of cardiovascular system morphology	85358	SHANK3	OMIM:606232
HP:0030680	Abnormality of cardiovascular system morphology	113179	ADAT3	ORPHA:363528
HP:0030680	Abnormality of cardiovascular system morphology	4297	KMT2A	OMIM:605130
HP:0030680	Abnormality of cardiovascular system morphology	6659	SOX4	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	8289	ARID1A	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	6601	SMARCC2	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	6602	SMARCD1	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	196528	ARID2	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	6664	SOX11	ORPHA:1465
HP:0030680	Abnormality of cardiovascular system morphology	51008	ASCC1	OMIM:616867
HP:0030680	Abnormality of cardiovascular system morphology	57511	COG6	OMIM:614576
HP:0030680	Abnormality of cardiovascular system morphology	6638	SNRPN	ORPHA:177907
HP:0030680	Abnormality of cardiovascular system morphology	6628	SNRPB	OMIM:117650
HP:0030680	Abnormality of cardiovascular system morphology	100506658	OCLN	OMIM:251290
HP:0030680	Abnormality of cardiovascular system morphology	5331	PLCB3	OMIM:618961
HP:0030680	Abnormality of cardiovascular system morphology	9757	KMT2B	OMIM:619934
HP:0030680	Abnormality of cardiovascular system morphology	84148	KAT8	OMIM:618974
HP:0030680	Abnormality of cardiovascular system morphology	3155	HMGCL	ORPHA:20
HP:0030680	Abnormality of cardiovascular system morphology	9015	TAF1A	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	7112	TMPO	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	9464	HAND2	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	10486	CAP2	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	27063	ANKRD1	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	1410	CRYAB	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	1410	CRYAB	OMIM:615184
HP:0030680	Abnormality of cardiovascular system morphology	1829	DSG2	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	1829	DSG2	OMIM:612877
HP:0030680	Abnormality of cardiovascular system morphology	3910	LAMA4	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	3910	LAMA4	OMIM:615235
HP:0030680	Abnormality of cardiovascular system morphology	10587	TXNRD2	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	79717	PPCS	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	79717	PPCS	OMIM:618189
HP:0030680	Abnormality of cardiovascular system morphology	9529	BAG5	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	9529	BAG5	OMIM:619747
HP:0030680	Abnormality of cardiovascular system morphology	282996	RBM20	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	282996	RBM20	OMIM:613172
HP:0030680	Abnormality of cardiovascular system morphology	2274	FHL2	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	57798	GATAD1	ORPHA:154
HP:0030680	Abnormality of cardiovascular system morphology	57798	GATAD1	OMIM:614672
HP:0030680	Abnormality of cardiovascular system morphology	2070	EYA4	ORPHA:217622
HP:0030680	Abnormality of cardiovascular system morphology	2070	EYA4	OMIM:605362
HP:0030680	Abnormality of cardiovascular system morphology	3033	HADH	OMIM:231530
HP:0030680	Abnormality of cardiovascular system morphology	3033	HADH	ORPHA:71212
HP:0030680	Abnormality of cardiovascular system morphology	23417	MLYCD	OMIM:248360
HP:0030680	Abnormality of cardiovascular system morphology	57122	NUP107	OMIM:618348
HP:0030680	Abnormality of cardiovascular system morphology	57122	NUP107	OMIM:616730
HP:0030680	Abnormality of cardiovascular system morphology	148738	HJV	OMIM:602390
HP:0030680	Abnormality of cardiovascular system morphology	148738	HJV	ORPHA:79230
HP:0030680	Abnormality of cardiovascular system morphology	6442	SGCA	OMIM:608099
HP:0030680	Abnormality of cardiovascular system morphology	3909	LAMA3	ORPHA:79404
HP:0030680	Abnormality of cardiovascular system morphology	3918	LAMC2	ORPHA:79404
HP:0030680	Abnormality of cardiovascular system morphology	3914	LAMB3	ORPHA:79404
HP:0030680	Abnormality of cardiovascular system morphology	1120	CHKB	OMIM:602541
HP:0030680	Abnormality of cardiovascular system morphology	4537	MT-ND3	ORPHA:255210
HP:0030680	Abnormality of cardiovascular system morphology	4312	MMP1	ORPHA:79408
HP:0030680	Abnormality of cardiovascular system morphology	1294	COL7A1	ORPHA:79408
HP:0030680	Abnormality of cardiovascular system morphology	1294	COL7A1	ORPHA:89842
HP:0030680	Abnormality of cardiovascular system morphology	92667	MGME1	OMIM:615084
HP:0030680	Abnormality of cardiovascular system morphology	92667	MGME1	ORPHA:352447
HP:0030680	Abnormality of cardiovascular system morphology	55182	RNF220	OMIM:619688
HP:0030680	Abnormality of cardiovascular system morphology	27034	ACAD8	OMIM:611283
HP:0030680	Abnormality of cardiovascular system morphology	27034	ACAD8	ORPHA:79159
HP:0030680	Abnormality of cardiovascular system morphology	6443	SGCB	OMIM:604286
HP:0030680	Abnormality of cardiovascular system morphology	58528	RRAGD	OMIM:620152
HP:0030680	Abnormality of cardiovascular system morphology	513	ATP5F1D	OMIM:618120
HP:0030680	Abnormality of cardiovascular system morphology	26007	TKFC	OMIM:618805
HP:0030680	Abnormality of cardiovascular system morphology	10616	RBCK1	OMIM:615895
HP:0030680	Abnormality of cardiovascular system morphology	29967	LRP12	OMIM:164310
HP:0030680	Abnormality of cardiovascular system morphology	7156	TOP3A	OMIM:618097
HP:0030680	Abnormality of cardiovascular system morphology	51086	TNNI3K	OMIM:616117
HP:0030680	Abnormality of cardiovascular system morphology	8884	SLC5A6	OMIM:619903
HP:0030680	Abnormality of cardiovascular system morphology	388962	BOLA3	OMIM:614299
HP:0030680	Abnormality of cardiovascular system morphology	23230	VPS13A	ORPHA:2388
HP:0030680	Abnormality of cardiovascular system morphology	57817	HAMP	ORPHA:79230
HP:0030680	Abnormality of cardiovascular system morphology	6262	RYR2	OMIM:604772
HP:0030680	Abnormality of cardiovascular system morphology	845	CASQ2	OMIM:604772
HP:0030680	Abnormality of cardiovascular system morphology	10345	TRDN	OMIM:604772
HP:0030680	Abnormality of cardiovascular system morphology	25915	NDUFAF3	ORPHA:70474
HP:0030680	Abnormality of cardiovascular system morphology	4714	NDUFB8	ORPHA:70474
HP:0030680	Abnormality of cardiovascular system morphology	6834	SURF1	ORPHA:70474
HP:0030680	Abnormality of cardiovascular system morphology	111	ADCY5	OMIM:606703
HP:0030680	Abnormality of cardiovascular system morphology	111	ADCY5	ORPHA:324588
HP:0030680	Abnormality of cardiovascular system morphology	7504	XK	OMIM:300842
HP:0030680	Abnormality of cardiovascular system morphology	2065	ERBB3	OMIM:607598
HP:0030680	Abnormality of cardiovascular system morphology	7518	XRCC4	OMIM:616541
HP:0030680	Abnormality of cardiovascular system morphology	7716	VEZF1	OMIM:620247
HP:0030680	Abnormality of cardiovascular system morphology	6533	SLC6A6	OMIM:145350
HP:0030680	Abnormality of cardiovascular system morphology	55679	LIMS2	OMIM:616827
HP:0030680	Abnormality of cardiovascular system morphology	3759	KCNJ2	ORPHA:37553
HP:0030680	Abnormality of cardiovascular system morphology	79188	TMEM43	ORPHA:98853
HP:0030680	Abnormality of cardiovascular system morphology	23224	SYNE2	ORPHA:98853
HP:0030680	Abnormality of cardiovascular system morphology	23630	KCNE5	ORPHA:86818
HP:0030680	Abnormality of cardiovascular system morphology	2182	ACSL4	ORPHA:86818
HP:0030680	Abnormality of cardiovascular system morphology	9949	AMMECR1	ORPHA:86818
HP:0030680	Abnormality of cardiovascular system morphology	54968	TMEM70	ORPHA:1194
HP:0030680	Abnormality of cardiovascular system morphology	8473	OGT	OMIM:300997
HP:0030680	Abnormality of cardiovascular system morphology	6873	TAF2	OMIM:615599
HP:0030680	Abnormality of cardiovascular system morphology	6873	TAF2	ORPHA:397951
HP:0030680	Abnormality of cardiovascular system morphology	6650	CAPN15	OMIM:619318
HP:0030680	Abnormality of cardiovascular system morphology	3020	H3-3A	OMIM:619720
HP:0030680	Abnormality of cardiovascular system morphology	55764	IFT122	OMIM:218330
HP:0030680	Abnormality of cardiovascular system morphology	8493	PPM1D	OMIM:617450
HP:0030680	Abnormality of cardiovascular system morphology	1909	EDNRA	OMIM:616367
HP:0030680	Abnormality of cardiovascular system morphology	79753	SNIP1	OMIM:614501
HP:0030680	Abnormality of cardiovascular system morphology	54828	BCAS3	OMIM:619641
HP:0030680	Abnormality of cardiovascular system morphology	2222	FDFT1	OMIM:618156
HP:0030680	Abnormality of cardiovascular system morphology	4780	NFE2L2	OMIM:617744
HP:0030680	Abnormality of cardiovascular system morphology	9371	KIF3B	OMIM:618955
HP:0030680	Abnormality of cardiovascular system morphology	93649	MYOCD	OMIM:618719
HP:0030680	Abnormality of cardiovascular system morphology	5528	PPP2R5D	ORPHA:457279
HP:0030680	Abnormality of cardiovascular system morphology	27161	AGO2	OMIM:619149
HP:0030680	Abnormality of cardiovascular system morphology	583	BBS2	OMIM:615981
HP:0030680	Abnormality of cardiovascular system morphology	6720	SREBF1	OMIM:158310
HP:0030680	Abnormality of cardiovascular system morphology	7040	TGFB1	OMIM:219700
HP:0030680	Abnormality of cardiovascular system morphology	1080	CFTR	OMIM:219700
HP:0030680	Abnormality of cardiovascular system morphology	695	BTK	OMIM:300755
HP:0030680	Abnormality of cardiovascular system morphology	58	ACTA1	ORPHA:2020
HP:0030680	Abnormality of cardiovascular system morphology	3679	ITGA7	ORPHA:2020
HP:0030680	Abnormality of cardiovascular system morphology	9200	HACD1	ORPHA:2020
HP:0030680	Abnormality of cardiovascular system morphology	51776	MAP3K20	ORPHA:2020
HP:0030680	Abnormality of cardiovascular system morphology	23241	PACS2	OMIM:618067
HP:0030680	Abnormality of cardiovascular system morphology	25970	SH2B1	ORPHA:261197
HP:0030680	Abnormality of cardiovascular system morphology	80781	COL18A1	ORPHA:1571
HP:0030680	Abnormality of cardiovascular system morphology	29940	DSE	ORPHA:2953
HP:0030680	Abnormality of cardiovascular system morphology	2588	GALNS	OMIM:253000
HP:0030680	Abnormality of cardiovascular system morphology	29998	BICRA	OMIM:619325
HP:0030680	Abnormality of cardiovascular system morphology	5649	RELN	ORPHA:89844
HP:0030680	Abnormality of cardiovascular system morphology	10300	KATNB1	ORPHA:89844
HP:0030680	Abnormality of cardiovascular system morphology	3313	HSPA9	OMIM:616854
HP:0030680	Abnormality of cardiovascular system morphology	23291	FBXW11	OMIM:618914
HP:0030680	Abnormality of cardiovascular system morphology	4001	LMNB1	OMIM:619179
HP:0030680	Abnormality of cardiovascular system morphology	5119	CHMP1A	OMIM:614961
HP:0030680	Abnormality of cardiovascular system morphology	201163	FLCN	OMIM:610883
HP:0030680	Abnormality of cardiovascular system morphology	222663	SCUBE3	OMIM:619184
HP:0030680	Abnormality of cardiovascular system morphology	23028	KDM1A	ORPHA:477993
HP:0030680	Abnormality of cardiovascular system morphology	1301	COL11A1	OMIM:228520
HP:0030680	Abnormality of cardiovascular system morphology	1763	DNA2	OMIM:615156
HP:0030680	Abnormality of cardiovascular system morphology	11222	MRPL3	OMIM:614582
HP:0030680	Abnormality of cardiovascular system morphology	91461	PKDCC	OMIM:618821
HP:0030680	Abnormality of cardiovascular system morphology	10681	GNB5	OMIM:617182
HP:0030680	Abnormality of cardiovascular system morphology	10681	GNB5	ORPHA:542306
HP:0030680	Abnormality of cardiovascular system morphology	55617	TASP1	OMIM:618950
HP:0030680	Abnormality of cardiovascular system morphology	9739	SETD1A	OMIM:618832
HP:0030680	Abnormality of cardiovascular system morphology	10430	TMEM147	OMIM:620075
HP:0030680	Abnormality of cardiovascular system morphology	57479	PRR12	OMIM:619539
HP:0030680	Abnormality of cardiovascular system morphology	3480	IGF1R	OMIM:270450
HP:0030680	Abnormality of cardiovascular system morphology	3708	ITPR1	OMIM:206700
HP:0030680	Abnormality of cardiovascular system morphology	57190	SELENON	ORPHA:324604
HP:0030680	Abnormality of cardiovascular system morphology	10617	STAMBP	OMIM:614261
HP:0030680	Abnormality of cardiovascular system morphology	79572	ATP13A3	OMIM:265400
HP:0030680	Abnormality of cardiovascular system morphology	8604	SLC25A12	OMIM:612949
HP:0030680	Abnormality of cardiovascular system morphology	8291	DYSF	ORPHA:268
HP:0030680	Abnormality of cardiovascular system morphology	26276	VPS33B	OMIM:208085
HP:0030680	Abnormality of cardiovascular system morphology	8292	COLQ	ORPHA:98915
HP:0030680	Abnormality of cardiovascular system morphology	3913	LAMB2	ORPHA:98915
HP:0030680	Abnormality of cardiovascular system morphology	63894	VIPAS39	OMIM:613404
HP:0030680	Abnormality of cardiovascular system morphology	650	BMP2	OMIM:617877
HP:0030680	Abnormality of cardiovascular system morphology	23389	MED13L	OMIM:616789
HP:0030680	Abnormality of cardiovascular system morphology	2218	FKTN	OMIM:253800
HP:0030680	Abnormality of cardiovascular system morphology	26227	PHGDH	OMIM:256520
HP:0030680	Abnormality of cardiovascular system morphology	6448	SGSH	OMIM:252900
HP:0030680	Abnormality of cardiovascular system morphology	138050	HGSNAT	OMIM:252930
HP:0030680	Abnormality of cardiovascular system morphology	4669	NAGLU	OMIM:252920
HP:0030680	Abnormality of cardiovascular system morphology	859	CAV3	OMIM:192600
HP:0030680	Abnormality of cardiovascular system morphology	85366	MYLK2	OMIM:192600
HP:0030680	Abnormality of cardiovascular system morphology	2799	GNS	OMIM:252940
HP:0030680	Abnormality of cardiovascular system morphology	3192	HNRNPU	ORPHA:238769
HP:0030680	Abnormality of cardiovascular system morphology	894	CCND2	ORPHA:83473
HP:0030680	Abnormality of cardiovascular system morphology	10000	AKT3	ORPHA:83473
HP:0030680	Abnormality of cardiovascular system morphology	64840	PORCN	ORPHA:2092
HP:0030680	Abnormality of cardiovascular system morphology	25885	POLR1A	ORPHA:1200
HP:0030680	Abnormality of cardiovascular system morphology	10907	TXNL4A	ORPHA:1200
HP:0030680	Abnormality of cardiovascular system morphology	8085	KMT2D	ORPHA:2322
HP:0030680	Abnormality of cardiovascular system morphology	6023	RMRP	ORPHA:175
HP:0030680	Abnormality of cardiovascular system morphology	7080	NKX2-1	ORPHA:209905
HP:0030680	Abnormality of cardiovascular system morphology	171023	ASXL1	ORPHA:97297
HP:0030680	Abnormality of cardiovascular system morphology	1760	DMPK	ORPHA:589821
HP:0030680	Abnormality of cardiovascular system morphology	389827	MYMK	OMIM:254940
HP:0030680	Abnormality of cardiovascular system morphology	8318	CDC45	OMIM:617063
HP:0030680	Abnormality of cardiovascular system morphology	7204	TRIO	ORPHA:476126
HP:0030680	Abnormality of cardiovascular system morphology	10265	IRX5	OMIM:611174
HP:0030680	Abnormality of cardiovascular system morphology	27152	INTU	OMIM:617925
HP:0030680	Abnormality of cardiovascular system morphology	51057	WDPCP	OMIM:217085
HP:0030680	Abnormality of cardiovascular system morphology	336	APOA2	OMIM:143890
HP:0030680	Abnormality of cardiovascular system morphology	2053	EPHX2	OMIM:143890
HP:0030680	Abnormality of cardiovascular system morphology	10842	PPP1R17	OMIM:143890
HP:0030680	Abnormality of cardiovascular system morphology	2690	GHR	OMIM:143890
HP:0030680	Abnormality of cardiovascular system morphology	2099	ESR1	ORPHA:785
HP:0030680	Abnormality of cardiovascular system morphology	23592	LEMD3	ORPHA:1306
HP:0030680	Abnormality of cardiovascular system morphology	7707	ZNF148	OMIM:617260
HP:0030680	Abnormality of cardiovascular system morphology	89910	UBE3B	OMIM:244450
HP:0030680	Abnormality of cardiovascular system morphology	146862	UNC45B	OMIM:619178
HP:0030680	Abnormality of cardiovascular system morphology	1108	CHD4	OMIM:617159
HP:0030680	Abnormality of cardiovascular system morphology	139285	AMER1	ORPHA:2780
HP:0030680	Abnormality of cardiovascular system morphology	55644	OSGEP	OMIM:617729
HP:0030680	Abnormality of cardiovascular system morphology	5826	ABCD4	OMIM:614857
HP:0030680	Abnormality of cardiovascular system morphology	8883	NAE1	OMIM:620210
HP:0030680	Abnormality of cardiovascular system morphology	10664	CTCF	ORPHA:363611
HP:0030680	Abnormality of cardiovascular system morphology	10664	CTCF	OMIM:615502
HP:0030680	Abnormality of cardiovascular system morphology	6491	STIL	ORPHA:280195
HP:0030680	Abnormality of cardiovascular system morphology	5236	PGM1	OMIM:614921
HP:0030680	Abnormality of cardiovascular system morphology	8295	TRRAP	OMIM:618454
HP:0030680	Abnormality of cardiovascular system morphology	127833	SYT2	OMIM:619461
HP:0030680	Abnormality of cardiovascular system morphology	91949	COG7	OMIM:608779
HP:0030680	Abnormality of cardiovascular system morphology	8294	H4C9	OMIM:619951
HP:0030680	Abnormality of cardiovascular system morphology	29081	METTL5	OMIM:618665
HP:0030680	Abnormality of cardiovascular system morphology	10765	KDM5B	OMIM:618109
HP:0030680	Abnormality of cardiovascular system morphology	132	ADK	OMIM:614300
HP:0030680	Abnormality of cardiovascular system morphology	8364	H4C3	OMIM:619758
HP:0030680	Abnormality of cardiovascular system morphology	256297	PTF1A	OMIM:609069
HP:0030680	Abnormality of cardiovascular system morphology	55027	HEATR3	OMIM:620072
HP:0030680	Abnormality of cardiovascular system morphology	79759	ZNF668	OMIM:620194
HP:0030680	Abnormality of cardiovascular system morphology	6472	SHMT2	OMIM:619121
HP:0030680	Abnormality of cardiovascular system morphology	80055	PGAP1	OMIM:615802
HP:0030680	Abnormality of cardiovascular system morphology	471	ATIC	OMIM:608688
HP:0030680	Abnormality of cardiovascular system morphology	3417	IDH1	ORPHA:99646
HP:0030680	Abnormality of cardiovascular system morphology	7994	KAT6A	OMIM:616268
HP:0030680	Abnormality of cardiovascular system morphology	9325	TRIP4	OMIM:616866
HP:0030680	Abnormality of cardiovascular system morphology	10079	ATP9A	OMIM:620242
HP:0030680	Abnormality of cardiovascular system morphology	4212	MEIS2	OMIM:600987
HP:0030680	Abnormality of cardiovascular system morphology	59336	PRDM13	OMIM:619909
HP:0030680	Abnormality of cardiovascular system morphology	5396	PRRX1	ORPHA:990
HP:0030680	Abnormality of cardiovascular system morphology	5396	PRRX1	OMIM:202650
HP:0030680	Abnormality of cardiovascular system morphology	23568	ARL2BP	OMIM:615434
HP:0030680	Abnormality of cardiovascular system morphology	55329	MNS1	OMIM:618948
HP:0030680	Abnormality of cardiovascular system morphology	54585	LZTFL1	OMIM:615994
HP:0030680	Abnormality of cardiovascular system morphology	4487	MSX1	ORPHA:199302
HP:0030680	Abnormality of cardiovascular system morphology	5818	NECTIN1	ORPHA:199302
HP:0030680	Abnormality of cardiovascular system morphology	8626	TP63	ORPHA:199302
HP:0030680	Abnormality of cardiovascular system morphology	3664	IRF6	ORPHA:199302
HP:0030680	Abnormality of cardiovascular system morphology	27031	NPHP3	OMIM:208540
HP:0030680	Abnormality of cardiovascular system morphology	27031	NPHP3	OMIM:267010
HP:0030680	Abnormality of cardiovascular system morphology	10991	SLC38A3	OMIM:619881
HP:0030680	Abnormality of cardiovascular system morphology	146845	CFAP52	OMIM:619607
HP:0030680	Abnormality of cardiovascular system morphology	10126	DNAL4	OMIM:616059
HP:0030680	Abnormality of cardiovascular system morphology	25914	RTTN	OMIM:614833
HP:0030680	Abnormality of cardiovascular system morphology	85452	CFAP74	OMIM:620197
HP:0030680	Abnormality of cardiovascular system morphology	8382	NME5	OMIM:620032
HP:0030680	Abnormality of cardiovascular system morphology	10084	PQBP1	OMIM:309500
HP:0030680	Abnormality of cardiovascular system morphology	284086	NEK8	OMIM:615415
HP:0030680	Abnormality of cardiovascular system morphology	203286	ANKS6	OMIM:615382
HP:0030680	Abnormality of cardiovascular system morphology	123016	TTC8	OMIM:615985
HP:0030680	Abnormality of cardiovascular system morphology	27130	INVS	OMIM:602088
HP:0030680	Abnormality of cardiovascular system morphology	83483	PLVAP	OMIM:618183
HP:0030680	Abnormality of cardiovascular system morphology	3702	ITK	OMIM:613011
HP:0030680	Abnormality of cardiovascular system morphology	5784	PTPN14	OMIM:613611
HP:0030680	Abnormality of cardiovascular system morphology	25821	MTO1	OMIM:614702
HP:0030680	Abnormality of cardiovascular system morphology	6696	SPP1	ORPHA:93552
HP:0030680	Abnormality of cardiovascular system morphology	3654	IRAK1	ORPHA:93552
HP:0030680	Abnormality of cardiovascular system morphology	84162	BLTP1	OMIM:617822
HP:0030680	Abnormality of cardiovascular system morphology	1130	LYST	ORPHA:167
HP:0030680	Abnormality of cardiovascular system morphology	37	ACADVL	ORPHA:26793
HP:0030680	Abnormality of cardiovascular system morphology	10203	CALCRL	OMIM:618773
HP:0030680	Abnormality of cardiovascular system morphology	950	SCARB2	ORPHA:77259
HP:0030680	Abnormality of cardiovascular system morphology	3920	LAMP2	OMIM:300257
HP:0030680	Abnormality of cardiovascular system morphology	51119	SBDS	OMIM:260400
HP:0030680	Abnormality of cardiovascular system morphology	134218	DNAJC21	OMIM:260400
HP:0030680	Abnormality of cardiovascular system morphology	6729	SRP54	OMIM:260400
HP:0030680	Abnormality of cardiovascular system morphology	144811	LACC1	ORPHA:85414
HP:0030680	Abnormality of cardiovascular system morphology	4282	MIF	ORPHA:85414
HP:0030680	Abnormality of cardiovascular system morphology	3569	IL6	ORPHA:85414
HP:0030680	Abnormality of cardiovascular system morphology	3932	LCK	OMIM:615758
HP:0030680	Abnormality of cardiovascular system morphology	1493	CTLA4	ORPHA:900
HP:0030680	Abnormality of cardiovascular system morphology	1493	CTLA4	OMIM:152700
HP:0030680	Abnormality of cardiovascular system morphology	3115	HLA-DPB1	ORPHA:900
HP:0030680	Abnormality of cardiovascular system morphology	5657	PRTN3	ORPHA:900
HP:0030680	Abnormality of cardiovascular system morphology	3113	HLA-DPA1	ORPHA:900
HP:0030680	Abnormality of cardiovascular system morphology	4210	MEFV	ORPHA:342
HP:0030680	Abnormality of cardiovascular system morphology	4210	MEFV	OMIM:249100
HP:0030680	Abnormality of cardiovascular system morphology	4210	MEFV	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	4094	MAF	ORPHA:1272
HP:0030680	Abnormality of cardiovascular system morphology	4094	MAF	OMIM:601088
HP:0030680	Abnormality of cardiovascular system morphology	100147744	RNU7-1	OMIM:619487
HP:0030680	Abnormality of cardiovascular system morphology	10216	PRG4	ORPHA:2848
HP:0030680	Abnormality of cardiovascular system morphology	3662	IRF4	ORPHA:3452
HP:0030680	Abnormality of cardiovascular system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0030680	Abnormality of cardiovascular system morphology	5373	PMM2	ORPHA:79318
HP:0030680	Abnormality of cardiovascular system morphology	5373	PMM2	OMIM:212065
HP:0030680	Abnormality of cardiovascular system morphology	2212	FCGR2A	OMIM:152700
HP:0030680	Abnormality of cardiovascular system morphology	2213	FCGR2B	OMIM:152700
HP:0030680	Abnormality of cardiovascular system morphology	11277	TREX1	OMIM:152700
HP:0030680	Abnormality of cardiovascular system morphology	1773	DNASE1	OMIM:152700
HP:0030680	Abnormality of cardiovascular system morphology	3039	HBA1	ORPHA:163596
HP:0030680	Abnormality of cardiovascular system morphology	3040	HBA2	ORPHA:163596
HP:0030680	Abnormality of cardiovascular system morphology	149233	IL23R	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	6775	STAT4	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	3586	IL10	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	1230	CCR1	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	355	FAS	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	3592	IL12A	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	7099	TLR4	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	3459	IFNGR1	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	720	C4A	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	337867	UBAC2	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	51752	ERAP1	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	8302	KLRC4	ORPHA:117
HP:0030680	Abnormality of cardiovascular system morphology	6197	RPS6KA3	ORPHA:192
HP:0030680	Abnormality of cardiovascular system morphology	3423	IDS	ORPHA:217085
HP:0030680	Abnormality of cardiovascular system morphology	3423	IDS	ORPHA:217093
HP:0030680	Abnormality of cardiovascular system morphology	64359	NXN	ORPHA:1507
HP:0030680	Abnormality of cardiovascular system morphology	4920	ROR2	ORPHA:1507
HP:0030680	Abnormality of cardiovascular system morphology	5337	PLD1	OMIM:212093
HP:0030680	Abnormality of cardiovascular system morphology	1277	COL1A1	ORPHA:287
HP:0030680	Abnormality of cardiovascular system morphology	1290	COL5A2	ORPHA:287
HP:0030680	Abnormality of cardiovascular system morphology	113189	CHST14	OMIM:601776
HP:0030680	Abnormality of cardiovascular system morphology	2260	FGFR1	ORPHA:2396
HP:0030680	Abnormality of cardiovascular system morphology	54539	NDUFB11	ORPHA:2556
HP:0030680	Abnormality of cardiovascular system morphology	1349	COX7B	ORPHA:2556
HP:0030680	Abnormality of cardiovascular system morphology	3052	HCCS	ORPHA:2556
HP:0030680	Abnormality of cardiovascular system morphology	6901	TAFAZZIN	ORPHA:111
HP:0030680	Abnormality of cardiovascular system morphology	6901	TAFAZZIN	OMIM:302060
HP:0030680	Abnormality of cardiovascular system morphology	3425	IDUA	OMIM:607014
HP:0030680	Abnormality of cardiovascular system morphology	3425	IDUA	ORPHA:93473
HP:0030680	Abnormality of cardiovascular system morphology	6584	SLC22A5	OMIM:212140
HP:0030680	Abnormality of cardiovascular system morphology	9158	FIBP	ORPHA:500095
HP:0030680	Abnormality of cardiovascular system morphology	79813	EHMT1	OMIM:610253
HP:0030680	Abnormality of cardiovascular system morphology	79813	EHMT1	ORPHA:96147
HP:0030680	Abnormality of cardiovascular system morphology	274	BIN1	ORPHA:169186
HP:0030680	Abnormality of cardiovascular system morphology	10290	SPEG	ORPHA:169186
HP:0030680	Abnormality of cardiovascular system morphology	6261	RYR1	ORPHA:169186
HP:0030680	Abnormality of cardiovascular system morphology	7273	TTN	ORPHA:169186
HP:0030680	Abnormality of cardiovascular system morphology	291	SLC25A4	ORPHA:254892
HP:0030680	Abnormality of cardiovascular system morphology	291	SLC25A4	OMIM:615418
HP:0030680	Abnormality of cardiovascular system morphology	5428	POLG	ORPHA:254892
HP:0030680	Abnormality of cardiovascular system morphology	56652	TWNK	ORPHA:254892
HP:0030680	Abnormality of cardiovascular system morphology	11232	POLG2	ORPHA:254892
HP:0030680	Abnormality of cardiovascular system morphology	50484	RRM2B	ORPHA:254892
HP:0030680	Abnormality of cardiovascular system morphology	10128	LRPPRC	OMIM:220111
HP:0030680	Abnormality of cardiovascular system morphology	5663	PSEN1	OMIM:613694
HP:0030680	Abnormality of cardiovascular system morphology	5664	PSEN2	OMIM:613697
HP:0030680	Abnormality of cardiovascular system morphology	57539	WDR35	OMIM:613610
HP:0030680	Abnormality of cardiovascular system morphology	2997	GYS1	OMIM:611556
HP:0030680	Abnormality of cardiovascular system morphology	4720	NDUFS2	OMIM:618228
HP:0030680	Abnormality of cardiovascular system morphology	51343	FZR1	OMIM:620145
HP:0030680	Abnormality of cardiovascular system morphology	10159	ATP6AP2	ORPHA:93952
HP:0030680	Abnormality of cardiovascular system morphology	6840	SVIL	OMIM:619040
HP:0030680	Abnormality of cardiovascular system morphology	10021	HCN4	OMIM:163800
HP:0030680	Abnormality of cardiovascular system morphology	51218	GLRX5	ORPHA:401866
HP:0030680	Abnormality of cardiovascular system morphology	1837	DTNA	OMIM:604169
HP:0030680	Abnormality of cardiovascular system morphology	6341	SCO1	OMIM:619048
HP:0030680	Abnormality of cardiovascular system morphology	1278	COL1A2	ORPHA:230851
HP:0030680	Abnormality of cardiovascular system morphology	83715	ESPN	OMIM:618632
HP:0030680	Abnormality of cardiovascular system morphology	6392	SDHD	OMIM:619167
HP:0030680	Abnormality of cardiovascular system morphology	6392	SDHD	ORPHA:3208
HP:0030680	Abnormality of cardiovascular system morphology	10229	COQ7	OMIM:616733
HP:0030680	Abnormality of cardiovascular system morphology	54931	TRMT10C	OMIM:616974
HP:0030680	Abnormality of cardiovascular system morphology	6868	ADAM17	ORPHA:294023
HP:0030680	Abnormality of cardiovascular system morphology	1956	EGFR	ORPHA:294023
HP:0030680	Abnormality of cardiovascular system morphology	79158	GNPTAB	ORPHA:576
HP:0030680	Abnormality of cardiovascular system morphology	4512	MT-CO1	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4513	MT-CO2	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4511	MT-TC	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4574	MT-TS1	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4575	MT-TS2	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4558	MT-TF	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4567	MT-TL1	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4566	MT-TK	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4572	MT-TQ	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4577	MT-TV	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	4578	MT-TW	OMIM:540000
HP:0030680	Abnormality of cardiovascular system morphology	153642	ARSK	OMIM:619698
HP:0030680	Abnormality of cardiovascular system morphology	57158	JPH2	OMIM:613873
HP:0030680	Abnormality of cardiovascular system morphology	5350	PLN	OMIM:613874
HP:0030680	Abnormality of cardiovascular system morphology	84100	ARL6	OMIM:209900
HP:0030680	Abnormality of cardiovascular system morphology	79140	CCDC28B	OMIM:209900
HP:0030680	Abnormality of cardiovascular system morphology	582	BBS1	OMIM:209900
HP:0030680	Abnormality of cardiovascular system morphology	708	C1QBP	OMIM:617713
HP:0030680	Abnormality of cardiovascular system morphology	91624	NEXN	OMIM:613876
HP:0030680	Abnormality of cardiovascular system morphology	1201	CLN3	ORPHA:228346
HP:0030680	Abnormality of cardiovascular system morphology	3291	HSD11B2	ORPHA:320
HP:0030680	Abnormality of cardiovascular system morphology	27010	TPK1	OMIM:614458
HP:0030680	Abnormality of cardiovascular system morphology	51241	COX16	OMIM:619355
HP:0030680	Abnormality of cardiovascular system morphology	29957	SLC25A24	OMIM:612289
HP:0030680	Abnormality of cardiovascular system morphology	8557	TCAP	OMIM:607487
HP:0030680	Abnormality of cardiovascular system morphology	3032	HADHB	ORPHA:746
HP:0030680	Abnormality of cardiovascular system morphology	3030	HADHA	ORPHA:746
HP:0030680	Abnormality of cardiovascular system morphology	9049	AIP	OMIM:102200
HP:0030680	Abnormality of cardiovascular system morphology	9049	AIP	ORPHA:99725
HP:0030680	Abnormality of cardiovascular system morphology	2548	GAA	ORPHA:308552
HP:0030680	Abnormality of cardiovascular system morphology	10585	POMT1	ORPHA:86812
HP:0030680	Abnormality of cardiovascular system morphology	10651	MTX2	OMIM:619127
HP:0030680	Abnormality of cardiovascular system morphology	7841	MOGS	ORPHA:79330
HP:0030680	Abnormality of cardiovascular system morphology	4221	MEN1	ORPHA:99725
HP:0030680	Abnormality of cardiovascular system morphology	2273	FHL1	OMIM:300280
HP:0030680	Abnormality of cardiovascular system morphology	57724	EPG5	OMIM:242840
HP:0030680	Abnormality of cardiovascular system morphology	4841	NONO	ORPHA:466791
HP:0030680	Abnormality of cardiovascular system morphology	55739	NAXD	OMIM:618321
HP:0030680	Abnormality of cardiovascular system morphology	79147	FKRP	OMIM:613153
HP:0030680	Abnormality of cardiovascular system morphology	29954	POMT2	OMIM:613156
HP:0030680	Abnormality of cardiovascular system morphology	6389	SDHA	ORPHA:3208
HP:0030680	Abnormality of cardiovascular system morphology	6390	SDHB	ORPHA:3208
HP:0030680	Abnormality of cardiovascular system morphology	644096	SDHAF1	ORPHA:3208
HP:0030680	Abnormality of cardiovascular system morphology	51778	MYOZ2	OMIM:613838
HP:0030680	Abnormality of cardiovascular system morphology	9469	CHST3	OMIM:245600
HP:0030680	Abnormality of cardiovascular system morphology	26229	B3GAT3	OMIM:245600
HP:0030680	Abnormality of cardiovascular system morphology	57017	COQ9	OMIM:614654
HP:0030680	Abnormality of cardiovascular system morphology	57592	ZNF687	OMIM:616833
HP:0030680	Abnormality of cardiovascular system morphology	1756	DMD	ORPHA:206546
HP:0030680	Abnormality of cardiovascular system morphology	3762	KCNJ5	ORPHA:251274
HP:0030680	Abnormality of cardiovascular system morphology	58499	ZNF462	OMIM:618619
HP:0030680	Abnormality of cardiovascular system morphology	84705	GTPBP3	ORPHA:444013
HP:0030680	Abnormality of cardiovascular system morphology	1340	COX6B1	OMIM:619051
HP:0030680	Abnormality of cardiovascular system morphology	51322	WAC	ORPHA:284169
HP:0030680	Abnormality of cardiovascular system morphology	6444	SGCD	OMIM:601287
HP:0030680	Abnormality of cardiovascular system morphology	178	AGL	OMIM:232400
HP:0030680	Abnormality of cardiovascular system morphology	6125	RPL5	OMIM:612561
HP:0030680	Abnormality of cardiovascular system morphology	788	SLC25A20	OMIM:212138
HP:0030680	Abnormality of cardiovascular system morphology	10269	ZMPSTE24	ORPHA:740
HP:0030680	Abnormality of cardiovascular system morphology	374354	NHLRC2	OMIM:618278
HP:0030680	Abnormality of cardiovascular system morphology	83550	GPR101	OMIM:300942
HP:0030680	Abnormality of cardiovascular system morphology	3081	HGD	ORPHA:56
HP:0030680	Abnormality of cardiovascular system morphology	3081	HGD	OMIM:203500
HP:0030680	Abnormality of cardiovascular system morphology	10735	STAG2	OMIM:301043
HP:0030680	Abnormality of cardiovascular system morphology	6909	TBX2	OMIM:618223
HP:0030680	Abnormality of cardiovascular system morphology	23007	PLCH1	OMIM:619895
HP:0030680	Abnormality of cardiovascular system morphology	5824	PEX19	OMIM:614886
HP:0030680	Abnormality of cardiovascular system morphology	55191	NADSYN1	OMIM:618845
HP:0030680	Abnormality of cardiovascular system morphology	526	ATP6V1B2	ORPHA:79500
HP:0030680	Abnormality of cardiovascular system morphology	57465	TBC1D24	ORPHA:79500
HP:0030680	Abnormality of cardiovascular system morphology	9451	EIF2AK3	ORPHA:1667
HP:0030680	Abnormality of cardiovascular system morphology	55593	OTUD5	OMIM:301056
HP:0030680	Abnormality of cardiovascular system morphology	4313	MMP2	ORPHA:371428
HP:0030680	Abnormality of cardiovascular system morphology	4323	MMP14	ORPHA:371428
HP:0030680	Abnormality of cardiovascular system morphology	54880	BCOR	OMIM:300166
HP:0030680	Abnormality of cardiovascular system morphology	285590	SH3PXD2B	OMIM:249420
HP:0030680	Abnormality of cardiovascular system morphology	9772	TMEM94	OMIM:618316
HP:0030680	Abnormality of cardiovascular system morphology	5053	PAH	ORPHA:2209
HP:0030680	Abnormality of cardiovascular system morphology	64131	XYLT1	OMIM:264800
HP:0030680	Abnormality of cardiovascular system morphology	64132	XYLT2	OMIM:264800
HP:0030680	Abnormality of cardiovascular system morphology	1062	CENPE	OMIM:616051
HP:0030680	Abnormality of cardiovascular system morphology	51604	PIGT	OMIM:615398
HP:0030680	Abnormality of cardiovascular system morphology	51604	PIGT	ORPHA:369837
HP:0030680	Abnormality of cardiovascular system morphology	1674	DES	OMIM:601419
HP:0030680	Abnormality of cardiovascular system morphology	7276	TTR	ORPHA:85451
HP:0030680	Abnormality of cardiovascular system morphology	9531	BAG3	OMIM:612954
HP:0030680	Abnormality of cardiovascular system morphology	2038	EPB42	ORPHA:822
HP:0030680	Abnormality of cardiovascular system morphology	6521	SLC4A1	ORPHA:822
HP:0030680	Abnormality of cardiovascular system morphology	6710	SPTB	ORPHA:822
HP:0030680	Abnormality of cardiovascular system morphology	6708	SPTA1	ORPHA:822
HP:0030680	Abnormality of cardiovascular system morphology	286	ANK1	ORPHA:822
HP:0030680	Abnormality of cardiovascular system morphology	50814	NSDHL	OMIM:308050
HP:0030680	Abnormality of cardiovascular system morphology	79770	TXNDC15	OMIM:619879
HP:0030680	Abnormality of cardiovascular system morphology	6496	SIX3	OMIM:157170
HP:0030680	Abnormality of cardiovascular system morphology	6772	STAT1	ORPHA:391487
HP:0030680	Abnormality of cardiovascular system morphology	10043	TOM1	ORPHA:391487
HP:0030680	Abnormality of cardiovascular system morphology	9896	FIG4	ORPHA:3472
HP:0030680	Abnormality of cardiovascular system morphology	55697	VAC14	ORPHA:3472
HP:0030680	Abnormality of cardiovascular system morphology	55654	TMEM127	OMIM:171300
HP:0030680	Abnormality of cardiovascular system morphology	5979	RET	OMIM:171300
HP:0030680	Abnormality of cardiovascular system morphology	4149	MAX	OMIM:171300
HP:0030680	Abnormality of cardiovascular system morphology	7428	VHL	OMIM:171300
HP:0030680	Abnormality of cardiovascular system morphology	50628	GEMIN4	OMIM:617913
HP:0030680	Abnormality of cardiovascular system morphology	182	JAG1	OMIM:118450
HP:0030680	Abnormality of cardiovascular system morphology	5456	POU3F4	ORPHA:1435
HP:0030680	Abnormality of cardiovascular system morphology	1146	CHRNG	OMIM:253290
HP:0030680	Abnormality of cardiovascular system morphology	1144	CHRND	OMIM:253290
HP:0030680	Abnormality of cardiovascular system morphology	1134	CHRNA1	OMIM:253290
HP:0030680	Abnormality of cardiovascular system morphology	2159	F10	ORPHA:328
HP:0030680	Abnormality of cardiovascular system morphology	2811	GP1BA	ORPHA:853
HP:0030680	Abnormality of cardiovascular system morphology	3673	ITGA2	ORPHA:853
HP:0030680	Abnormality of cardiovascular system morphology	135228	CD109	ORPHA:853
HP:0030680	Abnormality of cardiovascular system morphology	3690	ITGB3	ORPHA:853
HP:0030680	Abnormality of cardiovascular system morphology	54809	SAMD9	OMIM:617053
HP:0030680	Abnormality of cardiovascular system morphology	2155	F7	OMIM:227500
HP:0030680	Abnormality of cardiovascular system morphology	2155	F7	ORPHA:327
HP:0030680	Abnormality of cardiovascular system morphology	2624	GATA2	ORPHA:3226
HP:0030680	Abnormality of cardiovascular system morphology	5345	SERPINF2	ORPHA:79
HP:0030680	Abnormality of cardiovascular system morphology	249	ALPL	OMIM:241500
HP:0030680	Abnormality of cardiovascular system morphology	3998	LMAN1	ORPHA:35909
HP:0030680	Abnormality of cardiovascular system morphology	90411	MCFD2	ORPHA:35909
HP:0030680	Abnormality of cardiovascular system morphology	1584	CYP11B1	ORPHA:90795
HP:0030680	Abnormality of cardiovascular system morphology	1584	CYP11B1	ORPHA:403
HP:0030680	Abnormality of cardiovascular system morphology	1284	COL4A2	OMIM:614483
HP:0030680	Abnormality of cardiovascular system morphology	340665	CYP26C1	ORPHA:398189
HP:0030680	Abnormality of cardiovascular system morphology	1181	CLCN2	ORPHA:404
HP:0030680	Abnormality of cardiovascular system morphology	1585	CYP11B2	ORPHA:403
HP:0030680	Abnormality of cardiovascular system morphology	25942	SIN3A	OMIM:613406
HP:0030680	Abnormality of cardiovascular system morphology	7066	THPO	ORPHA:71493
HP:0030680	Abnormality of cardiovascular system morphology	60	ACTB	ORPHA:2995
HP:0030680	Abnormality of cardiovascular system morphology	811	CALR	ORPHA:3318
HP:0030680	Abnormality of cardiovascular system morphology	57674	RNF213	OMIM:607151
HP:0030680	Abnormality of cardiovascular system morphology	5621	PRNP	ORPHA:282166
HP:0030680	Abnormality of cardiovascular system morphology	4702	NDUFA8	OMIM:619272
HP:0030680	Abnormality of cardiovascular system morphology	1798	DPAGT1	ORPHA:86309
HP:0030680	Abnormality of cardiovascular system morphology	7466	WFS1	OMIM:222300
HP:0030680	Abnormality of cardiovascular system morphology	4564	MT-TH	ORPHA:550
HP:0030680	Abnormality of cardiovascular system morphology	3980	LIG3	OMIM:619780
HP:0030680	Abnormality of cardiovascular system morphology	54344	DPM3	ORPHA:263494
HP:0030680	Abnormality of cardiovascular system morphology	6786	STIM1	OMIM:185070
HP:0030680	Abnormality of cardiovascular system morphology	91869	RFT1	ORPHA:244310
HP:0030680	Abnormality of cardiovascular system morphology	23600	AMACR	ORPHA:79095
HP:0030680	Abnormality of cardiovascular system morphology	6575	SLC20A2	OMIM:213600
HP:0030680	Abnormality of cardiovascular system morphology	1604	CD55	OMIM:226300
HP:0030680	Abnormality of cardiovascular system morphology	147372	CCBE1	OMIM:235510
HP:0030680	Abnormality of cardiovascular system morphology	80169	CTC1	OMIM:612199
HP:0030680	Abnormality of cardiovascular system morphology	27125	AFF4	ORPHA:444077
HP:0030680	Abnormality of cardiovascular system morphology	23556	PIGN	ORPHA:280633
HP:0030680	Abnormality of cardiovascular system morphology	2201	FBN2	OMIM:121050
HP:0030680	Abnormality of cardiovascular system morphology	5500	PPP1CB	OMIM:617506
HP:0030680	Abnormality of cardiovascular system morphology	51726	DNAJB11	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	23193	GANAB	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	5311	PKD2	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	29880	ALG5	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	9742	IFT140	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	80114	BICC1	ORPHA:730
HP:0030680	Abnormality of cardiovascular system morphology	126792	B3GALT6	ORPHA:536467
HP:0030680	Abnormality of cardiovascular system morphology	126792	B3GALT6	OMIM:615349
HP:0030680	Abnormality of cardiovascular system morphology	2332	FMR1	ORPHA:449291
HP:0030680	Abnormality of cardiovascular system morphology	7169	TPM2	ORPHA:171881
HP:0030680	Abnormality of cardiovascular system morphology	7170	TPM3	ORPHA:171881
HP:0030680	Abnormality of cardiovascular system morphology	5238	PGM3	OMIM:615816
HP:0030680	Abnormality of cardiovascular system morphology	4883	NPR3	OMIM:619543
HP:0030680	Abnormality of cardiovascular system morphology	79576	NKAP	OMIM:301039
HP:0030680	Abnormality of cardiovascular system morphology	833	CARS1	OMIM:618891
HP:0030680	Abnormality of cardiovascular system morphology	54538	ROBO4	OMIM:618496
HP:0030680	Abnormality of cardiovascular system morphology	25	ABL1	OMIM:617602
HP:0030680	Abnormality of cardiovascular system morphology	79875	THSD4	OMIM:619825
HP:0030680	Abnormality of cardiovascular system morphology	29927	SEC61A1	OMIM:617056
HP:0030680	Abnormality of cardiovascular system morphology	8425	LTBP4	OMIM:613177
HP:0030680	Abnormality of cardiovascular system morphology	57167	SALL4	OMIM:607323
HP:0030680	Abnormality of cardiovascular system morphology	91147	TMEM67	OMIM:216360
HP:0030680	Abnormality of cardiovascular system morphology	197131	UBR1	OMIM:243800
HP:0030680	Abnormality of cardiovascular system morphology	11231	SEC63	ORPHA:2924
HP:0030680	Abnormality of cardiovascular system morphology	5589	PRKCSH	ORPHA:2924
HP:0030680	Abnormality of cardiovascular system morphology	6774	STAT3	ORPHA:2314
HP:0030680	Abnormality of cardiovascular system morphology	57728	WDR19	OMIM:616307
HP:0030680	Abnormality of cardiovascular system morphology	3110	MNX1	OMIM:176450
HP:0030680	Abnormality of cardiovascular system morphology	286204	CRB2	OMIM:219730
HP:0030680	Abnormality of cardiovascular system morphology	5087	PBX1	OMIM:617641
HP:0030680	Abnormality of cardiovascular system morphology	51025	PAM16	OMIM:613320
HP:0030680	Abnormality of cardiovascular system morphology	6663	SOX10	OMIM:611584
HP:0030680	Abnormality of cardiovascular system morphology	284119	CAVIN1	OMIM:613327
HP:0030680	Abnormality of cardiovascular system morphology	5193	PEX12	OMIM:614859
HP:0030680	Abnormality of cardiovascular system morphology	9780	PIEZO1	OMIM:616843
HP:0030680	Abnormality of cardiovascular system morphology	92579	G6PC3	OMIM:612541
HP:0030680	Abnormality of cardiovascular system morphology	2303	FOXC2	ORPHA:33001
HP:0030680	Abnormality of cardiovascular system morphology	2303	FOXC2	OMIM:153400
HP:0030680	Abnormality of cardiovascular system morphology	55315	SLC29A3	OMIM:602782
HP:0030680	Abnormality of cardiovascular system morphology	55315	SLC29A3	ORPHA:168569
HP:0030680	Abnormality of cardiovascular system morphology	3798	KIF5A	ORPHA:100991
HP:0030680	Abnormality of cardiovascular system morphology	57165	GJC2	ORPHA:79452
HP:0030680	Abnormality of cardiovascular system morphology	1188	CLCNKB	ORPHA:358
HP:0030680	Abnormality of cardiovascular system morphology	6559	SLC12A3	ORPHA:358
HP:0030680	Abnormality of cardiovascular system morphology	7840	ALMS1	OMIM:203800
HP:0030680	Abnormality of cardiovascular system morphology	189	AGXT	ORPHA:93598
HP:0030680	Abnormality of cardiovascular system morphology	335	APOA1	ORPHA:425
HP:0030680	Abnormality of cardiovascular system morphology	3931	LCAT	ORPHA:79292
HP:0030680	Abnormality of cardiovascular system morphology	91754	NEK9	OMIM:617022
HP:0030680	Abnormality of cardiovascular system morphology	23395	LARS2	OMIM:617021
HP:0030680	Abnormality of cardiovascular system morphology	2263	FGFR2	OMIM:101200
HP:0030680	Abnormality of cardiovascular system morphology	23483	TGDS	OMIM:616145
HP:0030680	Abnormality of cardiovascular system morphology	64220	STRA6	OMIM:601186
HP:0030680	Abnormality of cardiovascular system morphology	11146	GLMN	ORPHA:83454
HP:0030680	Abnormality of cardiovascular system morphology	356	FASLG	ORPHA:3261
HP:0030680	Abnormality of cardiovascular system morphology	356	FASLG	OMIM:601859
HP:0030680	Abnormality of cardiovascular system morphology	5580	PRKCD	ORPHA:3261
HP:0030680	Abnormality of cardiovascular system morphology	5580	PRKCD	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	843	CASP10	ORPHA:3261
HP:0030680	Abnormality of cardiovascular system morphology	843	CASP10	OMIM:603909
HP:0030680	Abnormality of cardiovascular system morphology	10125	RASGRP1	ORPHA:3261
HP:0030680	Abnormality of cardiovascular system morphology	90268	OTULIN	OMIM:617099
HP:0030680	Abnormality of cardiovascular system morphology	7456	WIPF1	ORPHA:906
HP:0030680	Abnormality of cardiovascular system morphology	4598	MVK	ORPHA:343
HP:0030680	Abnormality of cardiovascular system morphology	331	XIAP	OMIM:308240
HP:0030680	Abnormality of cardiovascular system morphology	4068	SH2D1A	OMIM:308240
HP:0030680	Abnormality of cardiovascular system morphology	114548	NLRP3	ORPHA:575
HP:0030680	Abnormality of cardiovascular system morphology	6335	SCN9A	ORPHA:90026
HP:0030680	Abnormality of cardiovascular system morphology	11280	SCN11A	ORPHA:90026
HP:0030680	Abnormality of cardiovascular system morphology	6336	SCN10A	ORPHA:90026
HP:0030680	Abnormality of cardiovascular system morphology	10095	ARPC1B	OMIM:617718
HP:0030680	Abnormality of cardiovascular system morphology	6583	SLC22A4	OMIM:180300
HP:0030680	Abnormality of cardiovascular system morphology	4261	CIITA	OMIM:180300
HP:0030680	Abnormality of cardiovascular system morphology	51744	CD244	OMIM:180300
HP:0030680	Abnormality of cardiovascular system morphology	4795	NFKBIL1	OMIM:180300
HP:0030680	Abnormality of cardiovascular system morphology	4615	MYD88	ORPHA:33226
HP:0030680	Abnormality of cardiovascular system morphology	23495	TNFRSF13B	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	4790	NFKB1	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	4791	NFKB2	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	1380	CR2	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	8742	TNFSF12	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	930	CD19	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	29851	ICOS	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	931	MS4A1	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	975	CD81	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	359948	IRF2BP2	ORPHA:1572
HP:0030680	Abnormality of cardiovascular system morphology	54	ACP5	ORPHA:1855
HP:0030680	Abnormality of cardiovascular system morphology	2068	ERCC2	ORPHA:220295
HP:0030680	Abnormality of cardiovascular system morphology	2073	ERCC5	ORPHA:220295
HP:0030680	Abnormality of cardiovascular system morphology	2071	ERCC3	ORPHA:220295
HP:0030680	Abnormality of cardiovascular system morphology	847	CAT	ORPHA:926
HP:0030680	Abnormality of cardiovascular system morphology	50485	SMARCAL1	OMIM:242900
HP:0030680	Abnormality of cardiovascular system morphology	348	APOE	ORPHA:412
HP:0030680	Abnormality of cardiovascular system morphology	633	BGN	OMIM:300989
HP:0030680	Abnormality of cardiovascular system morphology	6309	SC5D	OMIM:607330
HP:0030680	Abnormality of cardiovascular system morphology	5294	PIK3CG	OMIM:619802
HP:0030680	Abnormality of cardiovascular system morphology	1439	CSF2RB	ORPHA:264675
HP:0030680	Abnormality of cardiovascular system morphology	1438	CSF2RA	ORPHA:264675
HP:0030680	Abnormality of cardiovascular system morphology	5538	PPT1	OMIM:256730
HP:0030680	Abnormality of cardiovascular system morphology	54982	CLN6	OMIM:204300
HP:0030680	Abnormality of cardiovascular system morphology	80331	DNAJC5	OMIM:162350
HP:0030680	Abnormality of cardiovascular system morphology	1509	CTSD	OMIM:610127
HP:0030680	Abnormality of cardiovascular system morphology	2055	CLN8	ORPHA:1947
HP:0030680	Abnormality of cardiovascular system morphology	84818	IL17RC	ORPHA:1334
HP:0030680	Abnormality of cardiovascular system morphology	64581	CLEC7A	ORPHA:1334
HP:0030680	Abnormality of cardiovascular system morphology	23765	IL17RA	ORPHA:1334
HP:0030680	Abnormality of cardiovascular system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0030680	Abnormality of cardiovascular system morphology	112744	IL17F	ORPHA:1334
HP:0030680	Abnormality of cardiovascular system morphology	63895	PIEZO2	ORPHA:2461
HP:0030680	Abnormality of cardiovascular system morphology	10577	NPC2	OMIM:607625
HP:0030680	Abnormality of cardiovascular system morphology	4864	NPC1	OMIM:257220
HP:0030680	Abnormality of cardiovascular system morphology	23586	RIGI	OMIM:616298
HP:0030680	Abnormality of cardiovascular system morphology	10568	SLC34A2	ORPHA:60025
HP:0030680	Abnormality of cardiovascular system morphology	11020	IFT27	OMIM:615996
HP:0030680	Abnormality of cardiovascular system morphology	1024	CDK8	OMIM:618748
HP:0030680	Abnormality of cardiovascular system morphology	8405	SPOP	OMIM:618829
HP:0030680	Abnormality of cardiovascular system morphology	23498	HAAO	OMIM:617660
HP:0030680	Abnormality of cardiovascular system morphology	3021	H3-3B	OMIM:619721
HP:0030680	Abnormality of cardiovascular system morphology	8942	KYNU	OMIM:617661
HP:0030680	Abnormality of cardiovascular system morphology	51117	COQ4	OMIM:616276
HP:0030680	Abnormality of cardiovascular system morphology	2313	FLI1	ORPHA:2308
HP:0030680	Abnormality of cardiovascular system morphology	9968	MED12	OMIM:301068
HP:0030680	Abnormality of cardiovascular system morphology	2006	ELN	OMIM:185500
HP:0030680	Abnormality of cardiovascular system morphology	6134	RPL10	OMIM:300998
HP:0030680	Abnormality of cardiovascular system morphology	6134	RPL10	ORPHA:459070
HP:0030680	Abnormality of cardiovascular system morphology	6134	RPL10	ORPHA:435938
HP:0030680	Abnormality of cardiovascular system morphology	81031	SLC2A10	OMIM:208050
HP:0030680	Abnormality of cardiovascular system morphology	81031	SLC2A10	ORPHA:3342
HP:0030680	Abnormality of cardiovascular system morphology	8260	NAA10	OMIM:300855
HP:0030680	Abnormality of cardiovascular system morphology	8260	NAA10	ORPHA:276432
HP:0030680	Abnormality of cardiovascular system morphology	1272	CNTN1	OMIM:612540
HP:0030680	Abnormality of cardiovascular system morphology	10082	GPC6	OMIM:258315
HP:0030680	Abnormality of cardiovascular system morphology	9487	PIGL	OMIM:280000
HP:0030680	Abnormality of cardiovascular system morphology	64919	BCL11B	OMIM:617237
HP:0030680	Abnormality of cardiovascular system morphology	57514	ARHGAP31	OMIM:100300
HP:0030680	Abnormality of cardiovascular system morphology	2627	GATA6	ORPHA:2255
HP:0030680	Abnormality of cardiovascular system morphology	2627	GATA6	OMIM:600001
HP:0030680	Abnormality of cardiovascular system morphology	22800	RRAS2	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	867	CBL	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	8216	LZTR1	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	6016	RIT1	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	6237	RRAS	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	5894	RAF1	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	22808	MRAS	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	3845	KRAS	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	200734	SPRED2	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	4893	NRAS	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	6654	SOS1	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	6655	SOS2	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	5781	PTPN11	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	5922	RASA2	ORPHA:648
HP:0030680	Abnormality of cardiovascular system morphology	7486	WRN	ORPHA:902
HP:0030680	Abnormality of cardiovascular system morphology	54361	WNT4	OMIM:611812
HP:0030680	Abnormality of cardiovascular system morphology	9839	ZEB2	OMIM:235730
HP:0030680	Abnormality of cardiovascular system morphology	415	ARSL	ORPHA:79345
HP:0030680	Abnormality of cardiovascular system morphology	10312	TCIRG1	ORPHA:667
HP:0030680	Abnormality of cardiovascular system morphology	1186	CLCN7	ORPHA:667
HP:0030680	Abnormality of cardiovascular system morphology	29887	SNX10	ORPHA:667
HP:0030680	Abnormality of cardiovascular system morphology	8600	TNFSF11	ORPHA:667
HP:0030680	Abnormality of cardiovascular system morphology	2626	GATA4	ORPHA:251071
HP:0030680	Abnormality of cardiovascular system morphology	5422	POLA1	OMIM:301030
HP:0030680	Abnormality of cardiovascular system morphology	2623	GATA1	OMIM:190685
HP:0030680	Abnormality of cardiovascular system morphology	4256	MGP	ORPHA:85202
HP:0030680	Abnormality of cardiovascular system morphology	92002	CCNQ	ORPHA:140952
HP:0030680	Abnormality of cardiovascular system morphology	1482	NKX2-5	OMIM:614432
HP:0030680	Abnormality of cardiovascular system morphology	388015	RTL1	ORPHA:96334
HP:0030680	Abnormality of cardiovascular system morphology	8788	DLK1	ORPHA:96334
HP:0030680	Abnormality of cardiovascular system morphology	55384	MEG3	ORPHA:96334
HP:0030680	Abnormality of cardiovascular system morphology	1593	CYP27A1	ORPHA:909
HP:0030680	Abnormality of cardiovascular system morphology	3949	LDLR	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	255738	PCSK9	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	26119	LDLRAP1	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	338	APOB	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	64240	ABCG5	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	64241	ABCG8	ORPHA:391665
HP:0030680	Abnormality of cardiovascular system morphology	7148	TNXB	ORPHA:230839
HP:0030680	Abnormality of cardiovascular system morphology	4000	LMNA	ORPHA:280365
HP:0030680	Abnormality of cardiovascular system morphology	4000	LMNA	OMIM:176670
HP:0030680	Abnormality of cardiovascular system morphology	116519	APOA5	OMIM:145750
HP:0030680	Abnormality of cardiovascular system morphology	1071	CETP	ORPHA:79506
HP:0030680	Abnormality of cardiovascular system morphology	345	APOC3	ORPHA:79506
HP:0030680	Abnormality of cardiovascular system morphology	4023	LPL	OMIM:238600
HP:0030680	Abnormality of cardiovascular system morphology	3053	SERPIND1	OMIM:612356
HP:0030680	Abnormality of cardiovascular system morphology	23118	TAB2	OMIM:614980
HP:0030680	Abnormality of cardiovascular system morphology	2591	GALNT3	OMIM:211900
HP:0030680	Abnormality of cardiovascular system morphology	8772	FADD	OMIM:613759
HP:0030680	Abnormality of cardiovascular system morphology	8772	FADD	ORPHA:306550
HP:0030680	Abnormality of cardiovascular system morphology	118924	FRA10AC1	OMIM:620113
HP:0030680	Abnormality of cardiovascular system morphology	375	ARF1	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	4131	MAP1B	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	23327	NEDD4L	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	160418	TMTC3	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	10564	ARFGEF2	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	55780	ERMARD	ORPHA:98892
HP:0030680	Abnormality of cardiovascular system morphology	54453	RIN2	OMIM:613075
HP:0030680	Abnormality of cardiovascular system morphology	54453	RIN2	ORPHA:217335
HP:0030680	Abnormality of cardiovascular system morphology	29072	SETD2	ORPHA:821
HP:0030680	Abnormality of cardiovascular system morphology	10297	APC2	ORPHA:821
HP:0030680	Abnormality of cardiovascular system morphology	2317	FLNB	OMIM:150250
HP:0030680	Abnormality of cardiovascular system morphology	613	BCR	ORPHA:261330
HP:0030680	Abnormality of cardiovascular system morphology	1399	CRKL	ORPHA:261330
HP:0030680	Abnormality of cardiovascular system morphology	5594	MAPK1	ORPHA:261330
HP:0030680	Abnormality of cardiovascular system morphology	113246	C12orf57	OMIM:218340
HP:0030680	Abnormality of cardiovascular system morphology	63036	CELA2A	OMIM:618620
HP:0030680	Abnormality of cardiovascular system morphology	6711	SPTBN1	OMIM:619475
HP:0030680	Abnormality of cardiovascular system morphology	10056	FARSB	OMIM:613658
HP:0030680	Abnormality of cardiovascular system morphology	4796	TONSL	ORPHA:93357
HP:0030680	Abnormality of cardiovascular system morphology	8985	PLOD3	OMIM:612394
HP:0030680	Abnormality of cardiovascular system morphology	3977	LIFR	OMIM:601559
HP:0030680	Abnormality of cardiovascular system morphology	57551	TAOK1	OMIM:619575
HP:0030680	Abnormality of cardiovascular system morphology	112752	IFT43	OMIM:614099
HP:0030680	Abnormality of cardiovascular system morphology	9652	SKIC3	ORPHA:84064
HP:0030680	Abnormality of cardiovascular system morphology	6499	SKIC2	ORPHA:84064
HP:0030680	Abnormality of cardiovascular system morphology	2972	BRF1	ORPHA:444072
HP:0030680	Abnormality of cardiovascular system morphology	10293	TRAIP	OMIM:616777
HP:0030680	Abnormality of cardiovascular system morphology	10157	AASS	ORPHA:2203
HP:0030680	Abnormality of cardiovascular system morphology	26191	PTPN22	ORPHA:397
HP:0030680	Abnormality of cardiovascular system morphology	3106	HLA-B	ORPHA:397
HP:0030680	Abnormality of cardiovascular system morphology	3123	HLA-DRB1	ORPHA:397
HP:0030680	Abnormality of cardiovascular system morphology	8974	P4HA2	ORPHA:397
HP:0030680	Abnormality of cardiovascular system morphology	286053	NSMCE2	OMIM:617253
HP:0030680	Abnormality of cardiovascular system morphology	3756	KCNH1	OMIM:135500
HP:0030680	Abnormality of cardiovascular system morphology	4851	NOTCH1	ORPHA:402075
HP:0030680	Abnormality of cardiovascular system morphology	140628	GATA5	ORPHA:402075
HP:0030680	Abnormality of cardiovascular system morphology	4091	SMAD6	ORPHA:402075
HP:0030680	Abnormality of cardiovascular system morphology	5590	PRKCZ	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	2563	GABRD	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	23013	SPEN	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	8510	MMP23B	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	7798	LUZP1	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	6497	SKI	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	10630	PDPN	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	3339	HSPG2	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	10277	UBE4B	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	8514	KCNAB2	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	473	RERE	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	63976	PRDM16	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	54897	CASZ1	ORPHA:1606
HP:0030680	Abnormality of cardiovascular system morphology	9723	SEMA3E	ORPHA:138
HP:0030680	Abnormality of cardiovascular system morphology	30008	EFEMP2	OMIM:614437
HP:0030680	Abnormality of cardiovascular system morphology	4907	NT5E	ORPHA:289601
HP:0030680	Abnormality of cardiovascular system morphology	10060	ABCC9	OMIM:239850
HP:0030680	Abnormality of cardiovascular system morphology	4591	TRIM37	OMIM:253250
HP:0030680	Abnormality of cardiovascular system morphology	79796	ALG9	ORPHA:79328
HP:0030680	Abnormality of cardiovascular system morphology	7092	TLL1	ORPHA:99103
HP:0030680	Abnormality of cardiovascular system morphology	7092	TLL1	ORPHA:99106
HP:0030680	Abnormality of cardiovascular system morphology	57057	TBX20	ORPHA:99103
HP:0030680	Abnormality of cardiovascular system morphology	4624	MYH6	ORPHA:99103
HP:0030680	Abnormality of cardiovascular system morphology	70	ACTC1	ORPHA:99103
HP:0030680	Abnormality of cardiovascular system morphology	10370	CITED2	ORPHA:99103
HP:0030680	Abnormality of cardiovascular system morphology	10370	CITED2	ORPHA:99105
HP:0030680	Abnormality of cardiovascular system morphology	60684	TRAPPC11	ORPHA:369840
HP:0030680	Abnormality of cardiovascular system morphology	60684	TRAPPC11	ORPHA:369847
HP:0030680	Abnormality of cardiovascular system morphology	6331	SCN5A	OMIM:614022
HP:0030680	Abnormality of cardiovascular system morphology	96459	FNIP1	OMIM:619705
HP:0030680	Abnormality of cardiovascular system morphology	1000	CDH2	OMIM:618920
HP:0030680	Abnormality of cardiovascular system morphology	6445	SGCG	OMIM:253700
HP:0030680	Abnormality of cardiovascular system morphology	29119	CTNNA3	OMIM:615616
HP:0030680	Abnormality of cardiovascular system morphology	57538	ALPK3	OMIM:618052
HP:0030680	Abnormality of cardiovascular system morphology	5605	MAP2K2	OMIM:615280
HP:0030680	Abnormality of cardiovascular system morphology	4633	MYL2	OMIM:608758
HP:0030680	Abnormality of cardiovascular system morphology	221496	LEMD2	OMIM:619322
HP:0030680	Abnormality of cardiovascular system morphology	2992	GYG1	ORPHA:263297
HP:0030680	Abnormality of cardiovascular system morphology	4607	MYBPC3	OMIM:115197
HP:0030680	Abnormality of cardiovascular system morphology	2717	GLA	OMIM:301500
HP:0030680	Abnormality of cardiovascular system morphology	26580	BSCL2	OMIM:269700
HP:0030680	Abnormality of cardiovascular system morphology	84665	MYPN	OMIM:615248
HP:0030680	Abnormality of cardiovascular system morphology	8048	CSRP3	OMIM:612124
HP:0030680	Abnormality of cardiovascular system morphology	7139	TNNT2	OMIM:115195
HP:0030680	Abnormality of cardiovascular system morphology	123263	MTFMT	OMIM:614947
HP:0030680	Abnormality of cardiovascular system morphology	23345	SYNE1	OMIM:612998
HP:0030680	Abnormality of cardiovascular system morphology	55249	YY1AP1	OMIM:602531
HP:0030680	Abnormality of cardiovascular system morphology	9149	DYRK1B	OMIM:615812
HP:0030680	Abnormality of cardiovascular system morphology	57104	PNPLA2	ORPHA:565612
HP:0030680	Abnormality of cardiovascular system morphology	19	ABCA1	ORPHA:31150
HP:0030680	Abnormality of cardiovascular system morphology	374654	KIF7	OMIM:200990
HP:0030680	Abnormality of cardiovascular system morphology	5745	PTH1R	OMIM:215045
HP:0030680	Abnormality of cardiovascular system morphology	4724	NDUFS4	OMIM:252010
HP:0030680	Abnormality of cardiovascular system morphology	10102	TSFM	OMIM:610505
HP:0030680	Abnormality of cardiovascular system morphology	123606	NIPA1	ORPHA:261183
HP:0030680	Abnormality of cardiovascular system morphology	7283	TUBG1	ORPHA:261183
HP:0030680	Abnormality of cardiovascular system morphology	81614	NIPA2	ORPHA:261183
HP:0030680	Abnormality of cardiovascular system morphology	998	CDC42	ORPHA:487796
HP:0030680	Abnormality of cardiovascular system morphology	1654	DDX3X	OMIM:300958
HP:0030680	Abnormality of cardiovascular system morphology	10524	KAT5	OMIM:619103
HP:0030680	Abnormality of cardiovascular system morphology	171019	ADAMTS19	OMIM:620067
HP:0030680	Abnormality of cardiovascular system morphology	3990	LIPC	ORPHA:140905
HP:0030680	Abnormality of cardiovascular system morphology	84984	CEP19	OMIM:615703
HP:0030680	Abnormality of cardiovascular system morphology	338328	GPIHBP1	OMIM:615947
HP:0030680	Abnormality of cardiovascular system morphology	4205	MEF2A	OMIM:608320
HP:0030680	Abnormality of cardiovascular system morphology	4040	LRP6	OMIM:610947
HP:0030680	Abnormality of cardiovascular system morphology	4010	LMX1B	ORPHA:2614
HP:0030680	Abnormality of cardiovascular system morphology	3198	HOXA1	OMIM:601536
HP:0030680	Abnormality of cardiovascular system morphology	5728	PTEN	ORPHA:2969
HP:0030680	Abnormality of cardiovascular system morphology	5728	PTEN	ORPHA:137608
HP:0030680	Abnormality of cardiovascular system morphology	5627	PROS1	ORPHA:743
HP:0030680	Abnormality of cardiovascular system morphology	5624	PROC	ORPHA:745
HP:0030680	Abnormality of cardiovascular system morphology	2776	GNAQ	ORPHA:624
HP:0030680	Abnormality of cardiovascular system morphology	64093	SMOC1	ORPHA:1106
HP:0030680	Abnormality of cardiovascular system morphology	5351	PLOD1	ORPHA:1900
HP:0030680	Abnormality of cardiovascular system morphology	128	ADH5	OMIM:619151
HP:0030680	Abnormality of cardiovascular system morphology	7490	WT1	OMIM:608978
HP:0030680	Abnormality of cardiovascular system morphology	137814	NKX2-6	ORPHA:3384
HP:0030680	Abnormality of cardiovascular system morphology	23129	PLXND1	ORPHA:3384
HP:0030680	Abnormality of cardiovascular system morphology	1387	CREBBP	OMIM:180849
HP:0030680	Abnormality of cardiovascular system morphology	2033	EP300	OMIM:180849
HP:0030680	Abnormality of cardiovascular system morphology	54916	TMEM260	OMIM:617478
HP:0030680	Abnormality of cardiovascular system morphology	25981	DNAH1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	115948	ODAD3	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	54768	HYDIN	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	352909	DNAAF3	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	27148	STK36	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	51314	NME8	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	92749	DRC1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	54970	TTC12	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	152110	NEK10	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	8481	OFD1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	2302	FOXJ1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	221421	RSPH9	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	85478	CCDC65	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	55036	CCDC40	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	51364	ZMYND10	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	64446	DNAI2	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	6674	SPAG1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	83544	DNAL1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	89765	RSPH1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	83538	ODAD4	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	200373	CFAP221	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	374407	DNAJB13	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	55172	DNAAF2	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	161582	DNAAF4	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	2622	GAS8	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	23639	DNAAF11	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	27019	DNAI1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	345895	RSPH4A	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	54919	DNAAF5	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	6103	RPGR	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	388389	CCDC103	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	93233	ODAD1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	93233	ODAD1	OMIM:615067
HP:0030680	Abnormality of cardiovascular system morphology	55130	ODAD2	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	1767	DNAH5	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	83861	RSPH3	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	345643	MCIDAS	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	56683	CFAP298	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	79925	SPEF2	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	10309	CCNO	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	115399	LRRC56	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	139212	DNAAF6	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	123872	DNAAF1	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	85016	CFAP300	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	339829	CCDC39	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	8701	DNAH11	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	1770	DNAH9	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	246176	GAS2L2	ORPHA:244
HP:0030680	Abnormality of cardiovascular system morphology	10743	RAI1	ORPHA:477817
HP:0030680	Abnormality of cardiovascular system morphology	10847	SRCAP	OMIM:136140
HP:0030680	Abnormality of cardiovascular system morphology	10847	SRCAP	ORPHA:2044
HP:0030680	Abnormality of cardiovascular system morphology	2187	FANCB	OMIM:314390
HP:0030680	Abnormality of cardiovascular system morphology	7547	ZIC3	OMIM:314390
HP:0030680	Abnormality of cardiovascular system morphology	55181	SMG8	OMIM:619268
HP:0030680	Abnormality of cardiovascular system morphology	374879	ZNF699	OMIM:619488
HP:0030680	Abnormality of cardiovascular system morphology	7386	UQCRFS1	OMIM:618775
HP:0030680	Abnormality of cardiovascular system morphology	1822	ATN1	OMIM:618494
HP:0030680	Abnormality of cardiovascular system morphology	4281	MID1	ORPHA:2745
HP:0030680	Abnormality of cardiovascular system morphology	2783	GNB2	OMIM:619503
HP:0030680	Abnormality of cardiovascular system morphology	1161	ERCC8	OMIM:216400
HP:0030680	Abnormality of cardiovascular system morphology	8241	RBM10	ORPHA:2886
HP:0030680	Abnormality of cardiovascular system morphology	7703	PCGF2	OMIM:618371
HP:0030680	Abnormality of cardiovascular system morphology	1289	COL5A1	OMIM:619329
HP:0030680	Abnormality of cardiovascular system morphology	538	ATP7A	OMIM:304150
HP:0030680	Abnormality of cardiovascular system morphology	10526	IPO8	OMIM:619472
HP:0030680	Abnormality of cardiovascular system morphology	64135	IFIH1	OMIM:182250
HP:0030680	Abnormality of cardiovascular system morphology	10491	CRTAP	OMIM:610682
HP:0030680	Abnormality of cardiovascular system morphology	340419	RSPO2	OMIM:618021
HP:0030680	Abnormality of cardiovascular system morphology	7454	WAS	OMIM:301000
HP:0030680	Abnormality of cardiovascular system morphology	64127	NOD2	ORPHA:90340
HP:0030680	Abnormality of cardiovascular system morphology	659	BMPR2	OMIM:178600
HP:0030680	Abnormality of cardiovascular system morphology	55901	THSD1	OMIM:618734
HP:0030680	Abnormality of cardiovascular system morphology	4860	PNP	OMIM:613179
HP:0030680	Abnormality of cardiovascular system morphology	81704	DOCK8	OMIM:243700
HP:0030680	Abnormality of cardiovascular system morphology	10621	POLR3F	OMIM:619872
HP:0030680	Abnormality of cardiovascular system morphology	672	BRCA1	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	10459	MAD2L2	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	7516	XRCC2	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	29089	UBE2T	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	675	BRCA2	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	55120	FANCL	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2177	FANCD2	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2175	FANCA	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2176	FANCC	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2178	FANCE	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2188	FANCF	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2189	FANCG	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	5888	RAD51	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	5889	RAD51C	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	55159	RFWD3	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	83990	BRIP1	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	57697	FANCM	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	79728	PALB2	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	84464	SLX4	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	2072	ERCC4	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	55215	FANCI	ORPHA:84
HP:0030680	Abnormality of cardiovascular system morphology	7319	UBE2A	ORPHA:163956
HP:0030680	Abnormality of cardiovascular system morphology	10283	CWC27	ORPHA:166035
HP:0030680	Abnormality of cardiovascular system morphology	54345	SOX18	OMIM:137940
HP:0030680	Abnormality of cardiovascular system morphology	9508	ADAMTS3	ORPHA:2136
HP:0030680	Abnormality of cardiovascular system morphology	7414	VCL	OMIM:613255
HP:0030680	Abnormality of cardiovascular system morphology	88	ACTN2	OMIM:612158
HP:0030680	Abnormality of cardiovascular system morphology	3431	SP110	OMIM:235550
HP:0030680	Abnormality of cardiovascular system morphology	5156	PDGFRA	OMIM:607685
HP:0030680	Abnormality of cardiovascular system morphology	4634	MYL3	OMIM:608751
HP:0030680	Abnormality of cardiovascular system morphology	11155	LDB3	OMIM:601493
HP:0030680	Abnormality of cardiovascular system morphology	2629	GBA1	ORPHA:2072
HP:0030680	Abnormality of cardiovascular system morphology	5573	PRKAR1A	ORPHA:615
HP:0030680	Abnormality of cardiovascular system morphology	5573	PRKAR1A	OMIM:255960
HP:0030680	Abnormality of cardiovascular system morphology	2316	FLNA	OMIM:314400
HP:0030680	Abnormality of cardiovascular system morphology	2737	GLI3	ORPHA:672
HP:0030680	Abnormality of cardiovascular system morphology	9361	LONP1	OMIM:600373
HP:0030680	Abnormality of cardiovascular system morphology	22827	PUF60	ORPHA:508498
HP:0030680	Abnormality of cardiovascular system morphology	22827	PUF60	ORPHA:508488
HP:0030680	Abnormality of cardiovascular system morphology	6910	TBX5	ORPHA:392
HP:0030680	Abnormality of cardiovascular system morphology	4838	NODAL	OMIM:270100
HP:0030680	Abnormality of cardiovascular system morphology	673	BRAF	ORPHA:500
HP:0030680	Abnormality of cardiovascular system morphology	11198	SUPT16H	OMIM:619480
HP:0030680	Abnormality of cardiovascular system morphology	90416	CCDC32	OMIM:619123
HP:0030680	Abnormality of cardiovascular system morphology	1717	DHCR7	ORPHA:818
HP:0030680	Abnormality of cardiovascular system morphology	55997	CFC1	OMIM:605376
HP:0030680	Abnormality of cardiovascular system morphology	78987	CRELD1	OMIM:606217
HP:0030680	Abnormality of cardiovascular system morphology	57020	VPS35L	OMIM:619135
HP:0030680	Abnormality of cardiovascular system morphology	50619	DEF6	OMIM:619573
HP:0030680	Abnormality of cardiovascular system morphology	7026	NR2F2	OMIM:615779
HP:0030680	Abnormality of cardiovascular system morphology	9939	RBM8A	OMIM:274000
HP:0030680	Abnormality of cardiovascular system morphology	23522	KAT6B	ORPHA:3047
HP:0030680	Abnormality of cardiovascular system morphology	4750	NEK1	ORPHA:2751
HP:0030680	Abnormality of cardiovascular system morphology	9897	WASHC5	ORPHA:7
HP:0030680	Abnormality of cardiovascular system morphology	28952	CCDC22	ORPHA:7
HP:0030680	Abnormality of cardiovascular system morphology	5566	PRKACA	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	5566	PRKACA	OMIM:619142
HP:0030680	Abnormality of cardiovascular system morphology	5567	PRKACB	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	5567	PRKACB	OMIM:619143
HP:0030680	Abnormality of cardiovascular system morphology	2735	GLI1	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	2121	EVC	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	51626	DYNC2LI1	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	51626	DYNC2LI1	OMIM:617088
HP:0030680	Abnormality of cardiovascular system morphology	132884	EVC2	ORPHA:289
HP:0030680	Abnormality of cardiovascular system morphology	7403	KDM6A	OMIM:300867
HP:0030680	Abnormality of cardiovascular system morphology	5587	PRKD1	OMIM:617364
HP:0030680	Abnormality of cardiovascular system morphology	5318	PKP2	OMIM:609040
HP:0030680	Abnormality of cardiovascular system morphology	10516	FBLN5	ORPHA:90348
HP:0030680	Abnormality of cardiovascular system morphology	10516	FBLN5	ORPHA:90349
HP:0030680	Abnormality of cardiovascular system morphology	5832	ALDH18A1	ORPHA:90348
HP:0030680	Abnormality of cardiovascular system morphology	4052	LTBP1	ORPHA:90349
HP:0030680	Abnormality of cardiovascular system morphology	54820	NDE1	ORPHA:2177
HP:0030680	Abnormality of cardiovascular system morphology	4878	NPPA	OMIM:615745
HP:0030680	Abnormality of cardiovascular system morphology	29925	GMPPB	ORPHA:363623
HP:0030680	Abnormality of cardiovascular system morphology	54914	FOCAD	OMIM:619991
HP:0030680	Abnormality of cardiovascular system morphology	1193	CLIC2	ORPHA:324410
HP:0030680	Abnormality of cardiovascular system morphology	1376	CPT2	OMIM:608836
HP:0030680	Abnormality of cardiovascular system morphology	5310	PKD1	OMIM:173900
HP:0030680	Abnormality of cardiovascular system morphology	7049	TGFBR3	ORPHA:231160
HP:0030680	Abnormality of cardiovascular system morphology	83854	ANGPTL6	ORPHA:231160
HP:0030680	Abnormality of cardiovascular system morphology	5468	PPARG	ORPHA:79083
HP:0030680	Abnormality of cardiovascular system morphology	85465	SELENOI	ORPHA:506353
HP:0030680	Abnormality of cardiovascular system morphology	4514	MT-CO3	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4519	MT-CYB	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4541	MT-ND6	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4540	MT-ND5	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4539	MT-ND4L	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4535	MT-ND1	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4536	MT-ND2	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	4538	MT-ND4	OMIM:535000
HP:0030680	Abnormality of cardiovascular system morphology	2161	F12	ORPHA:330
HP:0030680	Abnormality of cardiovascular system morphology	7439	BEST1	OMIM:193220
HP:0030680	Abnormality of cardiovascular system morphology	7287	TULP1	OMIM:600132
HP:0030680	Abnormality of cardiovascular system morphology	9129	PRPF3	OMIM:601414
HP:0030680	Abnormality of cardiovascular system morphology	7249	TSC2	OMIM:613254
HP:0030680	Abnormality of cardiovascular system morphology	7249	TSC2	ORPHA:805
HP:0030680	Abnormality of cardiovascular system morphology	3458	IFNG	OMIM:613254
HP:0030680	Abnormality of cardiovascular system morphology	3458	IFNG	ORPHA:805
HP:0030680	Abnormality of cardiovascular system morphology	7248	TSC1	ORPHA:805
HP:0030680	Abnormality of cardiovascular system morphology	7248	TSC1	OMIM:191100
HP:0030680	Abnormality of cardiovascular system morphology	55553	SOX6	OMIM:618971
HP:0030680	Abnormality of cardiovascular system morphology	5727	PTCH1	OMIM:109400
HP:0030680	Abnormality of cardiovascular system morphology	7168	TPM1	OMIM:611878
HP:0030680	Abnormality of cardiovascular system morphology	158326	FREM1	OMIM:608980
HP:0030680	Abnormality of cardiovascular system morphology	25790	CFAP45	OMIM:619608
HP:0030680	Abnormality of cardiovascular system morphology	427	ASAH1	ORPHA:333
HP:0030680	Abnormality of cardiovascular system morphology	427	ASAH1	OMIM:228000
HP:0030680	Abnormality of cardiovascular system morphology	5476	CTSA	ORPHA:351
HP:0030680	Abnormality of cardiovascular system morphology	5476	CTSA	OMIM:256540
HP:0030680	Abnormality of cardiovascular system morphology	6609	SMPD1	ORPHA:77293
HP:0030680	Abnormality of cardiovascular system morphology	6609	SMPD1	OMIM:257200
HP:0030680	Abnormality of cardiovascular system morphology	3074	HEXB	ORPHA:309155
HP:0030680	Abnormality of cardiovascular system morphology	3074	HEXB	OMIM:268800
HP:0030680	Abnormality of cardiovascular system morphology	2720	GLB1	OMIM:230500
HP:0030680	Abnormality of cardiovascular system morphology	2720	GLB1	OMIM:230650
HP:0030680	Abnormality of cardiovascular system morphology	2720	GLB1	ORPHA:79255
HP:0030680	Abnormality of cardiovascular system morphology	2581	GALC	ORPHA:206436
HP:0030680	Abnormality of cardiovascular system morphology	5660	PSAP	ORPHA:206436
HP:0030680	Abnormality of cardiovascular system morphology	4758	NEU1	OMIM:256550
HP:0030680	Abnormality of cardiovascular system morphology	4758	NEU1	ORPHA:93399
HP:0030680	Abnormality of cardiovascular system morphology	4758	NEU1	ORPHA:812
HP:0030680	Abnormality of cardiovascular system morphology	4758	NEU1	ORPHA:93400
HP:0030680	Abnormality of cardiovascular system morphology	79583	TMEM231	ORPHA:2752
HP:0030680	Abnormality of cardiovascular system morphology	3073	HEXA	OMIM:272800
HP:0030680	Abnormality of cardiovascular system morphology	1615	DARS1	OMIM:615281
HP:0030680	Abnormality of cardiovascular system morphology	2760	GM2A	ORPHA:309246
HP:0030680	Abnormality of cardiovascular system morphology	10730	YME1L1	OMIM:617302
HP:0030680	Abnormality of cardiovascular system morphology	1718	DHCR24	ORPHA:35107
HP:0030680	Abnormality of cardiovascular system morphology	5296	PIK3R2	OMIM:603387
HP:0030680	Abnormality of cardiovascular system morphology	5879	RAC1	OMIM:617751
HP:0030680	Abnormality of cardiovascular system morphology	523	ATP6V1A	OMIM:617403
HP:0030680	Abnormality of cardiovascular system morphology	1857	DVL3	OMIM:616894
HP:0030680	Abnormality of cardiovascular system morphology	348180	CTU2	OMIM:618142
HP:0030680	Abnormality of cardiovascular system morphology	8550	MAPKAPK5	OMIM:619869
HP:0030680	Abnormality of cardiovascular system morphology	2697	GJA1	ORPHA:2248
HP:0030680	Abnormality of cardiovascular system morphology	6597	SMARCA4	OMIM:614609
HP:0030680	Abnormality of cardiovascular system morphology	83475	DOHH	OMIM:620066
HP:0030680	Abnormality of cardiovascular system morphology	9993	DGCR2	OMIM:192430
HP:0030680	Abnormality of cardiovascular system morphology	8220	ESS2	OMIM:192430
HP:0030680	Abnormality of cardiovascular system morphology	8214	DGCR6	OMIM:192430
HP:0030680	Abnormality of cardiovascular system morphology	54487	DGCR8	OMIM:192430
HP:0030680	Abnormality of cardiovascular system morphology	129563	DIS3L2	OMIM:267000
HP:0030680	Abnormality of cardiovascular system morphology	8802	SUCLG1	ORPHA:17
HP:0030680	Abnormality of cardiovascular system morphology	1802	DPH2	OMIM:620062
HP:0030680	Abnormality of cardiovascular system morphology	5700	PSMC1	OMIM:620071
HP:0030680	Abnormality of cardiovascular system morphology	79228	THOC6	ORPHA:363444
HP:0030680	Abnormality of cardiovascular system morphology	5515	PPP2CA	OMIM:618354
HP:0030680	Abnormality of cardiovascular system morphology	2703	GJA8	OMIM:612474
HP:0030680	Abnormality of cardiovascular system morphology	23511	NUP188	OMIM:618804
HP:0030680	Abnormality of cardiovascular system morphology	51729	WBP11	OMIM:619227
HP:0030680	Abnormality of cardiovascular system morphology	439	GET3	OMIM:620203
HP:0030680	Abnormality of cardiovascular system morphology	374969	SVBP	OMIM:618569
HP:0030680	Abnormality of cardiovascular system morphology	51611	DPH5	OMIM:620070
HP:0030680	Abnormality of cardiovascular system morphology	1828	DSG1	OMIM:615508
HP:0030680	Abnormality of cardiovascular system morphology	8496	PPFIBP1	OMIM:620024
HP:0030680	Abnormality of cardiovascular system morphology	5718	PSMD12	ORPHA:529962
HP:0030680	Abnormality of cardiovascular system morphology	2186	BPTF	ORPHA:529962
HP:0030680	Abnormality of cardiovascular system morphology	808	CALM3	OMIM:618782
HP:0030680	Abnormality of cardiovascular system morphology	54892	NCAPG2	OMIM:618460
HP:0030680	Abnormality of cardiovascular system morphology	4613	MYCN	OMIM:164280
HP:0030680	Abnormality of cardiovascular system morphology	4613	MYCN	ORPHA:391641
HP:0030680	Abnormality of cardiovascular system morphology	1824	DSC2	OMIM:610476
HP:0030680	Abnormality of cardiovascular system morphology	54675	CRLS1	OMIM:620167
HP:0030680	Abnormality of cardiovascular system morphology	135	ADORA2A	ORPHA:363549
HP:0030680	Abnormality of cardiovascular system morphology	284252	KCTD1	OMIM:181270
HP:0030680	Abnormality of cardiovascular system morphology	8622	PDE8B	ORPHA:189439
HP:0030680	Abnormality of cardiovascular system morphology	4626	MYH8	OMIM:608837
HP:0030680	Abnormality of cardiovascular system morphology	4718	NDUFC2	OMIM:619170
HP:0030680	Abnormality of cardiovascular system morphology	1107	CHD3	OMIM:618205
HP:0030680	Abnormality of cardiovascular system morphology	22872	SEC31A	OMIM:618651
HP:0030680	Abnormality of cardiovascular system morphology	4713	NDUFB7	OMIM:620135
HP:0030680	Abnormality of cardiovascular system morphology	3712	IVD	OMIM:243500
HP:0030680	Abnormality of cardiovascular system morphology	5095	PCCA	OMIM:606054
HP:0030680	Abnormality of cardiovascular system morphology	5096	PCCB	OMIM:606054
HP:0030680	Abnormality of cardiovascular system morphology	10535	RNASEH2A	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	84153	RNASEH2C	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	25939	SAMHD1	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	79621	RNASEH2B	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	103	ADAR	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	134353	LSM11	ORPHA:51
HP:0030680	Abnormality of cardiovascular system morphology	1776	DNASE1L3	ORPHA:36412
HP:0030680	Abnormality of cardiovascular system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0030680	Abnormality of cardiovascular system morphology	23545	ATP6V0A2	OMIM:278250
HP:0030680	Abnormality of cardiovascular system morphology	9382	COG1	ORPHA:263508
HP:0030680	Abnormality of cardiovascular system morphology	80232	WDR26	ORPHA:513456
HP:0030680	Abnormality of cardiovascular system morphology	80232	WDR26	OMIM:617616
HP:0030680	Abnormality of cardiovascular system morphology	79989	IFT56	OMIM:619534
HP:0030680	Abnormality of cardiovascular system morphology	93	ACVR2B	OMIM:613751
HP:0030680	Abnormality of cardiovascular system morphology	220136	CFAP53	OMIM:614779
HP:0030680	Abnormality of cardiovascular system morphology	100128908	CIROP	OMIM:619702
HP:0030680	Abnormality of cardiovascular system morphology	10992	SF3B2	OMIM:164210
HP:0030680	Abnormality of cardiovascular system morphology	118856	MMP21	OMIM:616749
HP:0030680	Abnormality of cardiovascular system morphology	10525	HYOU1	OMIM:233600
HP:0030680	Abnormality of cardiovascular system morphology	7317	UBA1	OMIM:301054
HP:0030680	Abnormality of cardiovascular system morphology	51473	DCDC2	ORPHA:84081
HP:0030680	Abnormality of cardiovascular system morphology	5518	PPP2R1A	ORPHA:457284
HP:0030680	Abnormality of cardiovascular system morphology	1581	CYP7A1	ORPHA:209902
HP:0030680	Abnormality of cardiovascular system morphology	4488	MSX2	ORPHA:60015
HP:0030680	Abnormality of cardiovascular system morphology	60529	ALX4	ORPHA:60015
HP:0030680	Abnormality of cardiovascular system morphology	4763	NF1	ORPHA:97685
HP:0030680	Abnormality of cardiovascular system morphology	1281	COL3A1	OMIM:130050
HP:0030680	Abnormality of cardiovascular system morphology	2301	FOXE3	OMIM:617349
HP:0030680	Abnormality of cardiovascular system morphology	2301	FOXE3	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4088	SMAD3	OMIM:613795
HP:0030680	Abnormality of cardiovascular system morphology	4088	SMAD3	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4629	MYH11	OMIM:132900
HP:0030680	Abnormality of cardiovascular system morphology	4629	MYH11	ORPHA:229
HP:0030680	Abnormality of cardiovascular system morphology	4629	MYH11	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	11117	EMILIN1	OMIM:620080
HP:0030680	Abnormality of cardiovascular system morphology	5592	PRKG1	OMIM:615436
HP:0030680	Abnormality of cardiovascular system morphology	5592	PRKG1	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	59	ACTA2	OMIM:611788
HP:0030680	Abnormality of cardiovascular system morphology	59	ACTA2	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4015	LOX	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4087	SMAD2	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	7043	TGFB3	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	7042	TGFB2	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4089	SMAD4	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	2200	FBN1	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4144	MAT2A	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	23493	HEY2	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	8076	MFAP5	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4638	MYLK	ORPHA:91387
HP:0030680	Abnormality of cardiovascular system morphology	4638	MYLK	OMIM:613780
HP:0030680	Abnormality of cardiovascular system morphology	4953	ODC1	OMIM:619075
HP:0030680	Abnormality of cardiovascular system morphology	4953	ODC1	ORPHA:544488
HP:0030680	Abnormality of cardiovascular system morphology	55768	NGLY1	OMIM:615273
HP:0030680	Abnormality of cardiovascular system morphology	1182	CLCN3	OMIM:619512
HP:0030680	Abnormality of cardiovascular system morphology	1182	CLCN3	OMIM:619517
HP:0030680	Abnormality of cardiovascular system morphology	6477	SIAH1	OMIM:619314
HP:0030680	Abnormality of cardiovascular system morphology	85365	ALG2	OMIM:607906
HP:0030680	Abnormality of cardiovascular system morphology	51111	KMT5B	OMIM:617788
HP:0030680	Abnormality of cardiovascular system morphology	1641	DCX	ORPHA:2148
HP:0030680	Abnormality of cardiovascular system morphology	5361	PLXNA1	OMIM:619955
HP:0030680	Abnormality of cardiovascular system morphology	5048	PAFAH1B1	OMIM:607432
HP:0030680	Abnormality of cardiovascular system morphology	5048	PAFAH1B1	ORPHA:95232
HP:0030680	Abnormality of cardiovascular system morphology	57688	ZSWIM6	OMIM:603671
HP:0030680	Abnormality of cardiovascular system morphology	7010	TEK	OMIM:600195
HP:0030680	Abnormality of cardiovascular system morphology	131118	DNAJC19	OMIM:610198
HP:0030680	Abnormality of cardiovascular system morphology	114803	MYSM1	ORPHA:508542
HP:0030680	Abnormality of cardiovascular system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0030680	Abnormality of cardiovascular system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0030680	Abnormality of cardiovascular system morphology	595	CCND1	ORPHA:892
HP:0030680	Abnormality of cardiovascular system morphology	2879	GPX4	ORPHA:93317
HP:0030680	Abnormality of cardiovascular system morphology	2879	GPX4	OMIM:250220
HP:0030680	Abnormality of cardiovascular system morphology	27068	PPA2	OMIM:617222
HP:0030680	Abnormality of cardiovascular system morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030680	Abnormality of cardiovascular system morphology	6135	RPL11	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6138	RPL15	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6229	RPS24	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6204	RPS10	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6165	RPL35A	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6223	RPS19	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6232	RPS27	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6231	RPS26	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	11224	RPL35	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6160	RPL31	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6218	RPS17	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6201	RPS7	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6155	RPL27	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6154	RPL26	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6210	RPS15A	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	90121	TSR2	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6141	RPL18	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6235	RPS29	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	6234	RPS28	ORPHA:124
HP:0030680	Abnormality of cardiovascular system morphology	567	B2M	ORPHA:314652
HP:0030680	Abnormality of cardiovascular system morphology	2202	EFEMP1	ORPHA:98977
HP:0030680	Abnormality of cardiovascular system morphology	1545	CYP1B1	ORPHA:98977
HP:0030680	Abnormality of cardiovascular system morphology	4653	MYOC	ORPHA:98977
HP:0030680	Abnormality of cardiovascular system morphology	3490	IGFBP7	OMIM:614224
HP:0030680	Abnormality of cardiovascular system morphology	51434	ANAPC7	OMIM:619699
HP:0030680	Abnormality of cardiovascular system morphology	29969	MDFIC	OMIM:620014
HP:0030680	Abnormality of cardiovascular system morphology	6007	RHD	OMIM:619462
HP:0030680	Abnormality of cardiovascular system morphology	2859	GPR35	ORPHA:171
HP:0030680	Abnormality of cardiovascular system morphology	10507	SEMA4D	ORPHA:171
HP:0030680	Abnormality of cardiovascular system morphology	4485	MST1	ORPHA:171
HP:0030680	Abnormality of cardiovascular system morphology	6925	TCF4	ORPHA:171
HP:0030680	Abnormality of cardiovascular system morphology	84667	HES7	OMIM:613686
HP:0030680	Abnormality of cardiovascular system morphology	7337	UBE3A	ORPHA:238446
HP:0030680	Abnormality of cardiovascular system morphology	23394	ADNP	ORPHA:404448
HP:0030680	Abnormality of cardiovascular system morphology	23394	ADNP	OMIM:615873
HP:0030680	Abnormality of cardiovascular system morphology	341640	FREM2	ORPHA:2052
HP:0030680	Abnormality of cardiovascular system morphology	80144	FRAS1	ORPHA:2052
HP:0030680	Abnormality of cardiovascular system morphology	23426	GRIP1	ORPHA:2052
HP:0030680	Abnormality of cardiovascular system morphology	1139	CHRNA7	ORPHA:199318
HP:0030680	Abnormality of cardiovascular system morphology	1139	CHRNA7	OMIM:612001
HP:0030680	Abnormality of cardiovascular system morphology	84282	RNF135	ORPHA:137634
HP:0030680	Abnormality of cardiovascular system morphology	8195	MKKS	OMIM:236700
HP:0030680	Abnormality of cardiovascular system morphology	5830	PEX5	OMIM:214110
HP:0030680	Abnormality of cardiovascular system morphology	22947	DUX4L1	ORPHA:269
HP:0030680	Abnormality of cardiovascular system morphology	1789	DNMT3B	ORPHA:269
HP:0030680	Abnormality of cardiovascular system morphology	2483	FRG1	ORPHA:269
HP:0030680	Abnormality of cardiovascular system morphology	23347	SMCHD1	ORPHA:269
HP:0030680	Abnormality of cardiovascular system morphology	100288687	DUX4	ORPHA:269
HP:0030680	Abnormality of cardiovascular system morphology	81839	VANGL1	ORPHA:3027
HP:0030680	Abnormality of cardiovascular system morphology	80199	FUZ	ORPHA:3027
HP:0030680	Abnormality of cardiovascular system morphology	6662	SOX9	ORPHA:140
HP:0030680	Abnormality of cardiovascular system morphology	6662	SOX9	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	55112	DYNC2I1	ORPHA:93271
HP:0030680	Abnormality of cardiovascular system morphology	57560	IFT80	ORPHA:93271
HP:0030680	Abnormality of cardiovascular system morphology	79659	DYNC2H1	ORPHA:93271
HP:0030680	Abnormality of cardiovascular system morphology	89891	DYNC2I2	ORPHA:93271
HP:0030680	Abnormality of cardiovascular system morphology	57222	ERGIC1	OMIM:208100
HP:0030680	Abnormality of cardiovascular system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0030680	Abnormality of cardiovascular system morphology	23322	RPGRIP1L	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	4867	NPHP1	ORPHA:220497
HP:0030680	Abnormality of cardiovascular system morphology	65062	TMEM237	ORPHA:220497
HP:0030680	Abnormality of cardiovascular system morphology	65062	TMEM237	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	65062	TMEM237	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	65062	TMEM237	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	54806	AHI1	ORPHA:220493
HP:0030680	Abnormality of cardiovascular system morphology	54806	AHI1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	56623	INPP5E	ORPHA:220493
HP:0030680	Abnormality of cardiovascular system morphology	56623	INPP5E	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	153241	CEP120	ORPHA:220493
HP:0030680	Abnormality of cardiovascular system morphology	153241	CEP120	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	95681	CEP41	ORPHA:220493
HP:0030680	Abnormality of cardiovascular system morphology	95681	CEP41	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	2314	FLII	ORPHA:819
HP:0030680	Abnormality of cardiovascular system morphology	23096	IQSEC2	ORPHA:819
HP:0030680	Abnormality of cardiovascular system morphology	10522	DEAF1	ORPHA:819
HP:0030680	Abnormality of cardiovascular system morphology	1185	CLCN6	OMIM:619173
HP:0030680	Abnormality of cardiovascular system morphology	28514	DLL1	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	2253	FGF8	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	2253	FGF8	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	7050	TGIF1	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	6469	SHH	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	7546	ZIC2	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	2619	GAS1	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	84976	DISP1	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	2736	GLI2	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	8928	FOXH1	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	50937	CDON	ORPHA:280200
HP:0030680	Abnormality of cardiovascular system morphology	9401	RECQL4	OMIM:218600
HP:0030680	Abnormality of cardiovascular system morphology	10815	CPLX1	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	10815	CPLX1	OMIM:194190
HP:0030680	Abnormality of cardiovascular system morphology	54872	PIGG	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	7469	NELFA	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	1487	CTBP1	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	1487	CTBP1	OMIM:194190
HP:0030680	Abnormality of cardiovascular system morphology	3954	LETM1	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	3954	LETM1	OMIM:194190
HP:0030680	Abnormality of cardiovascular system morphology	7468	NSD2	ORPHA:280
HP:0030680	Abnormality of cardiovascular system morphology	7468	NSD2	OMIM:194190
HP:0030680	Abnormality of cardiovascular system morphology	9184	BUB3	ORPHA:1052
HP:0030680	Abnormality of cardiovascular system morphology	699	BUB1	ORPHA:1052
HP:0030680	Abnormality of cardiovascular system morphology	9702	CEP57	ORPHA:1052
HP:0030680	Abnormality of cardiovascular system morphology	9319	TRIP13	ORPHA:1052
HP:0030680	Abnormality of cardiovascular system morphology	701	BUB1B	ORPHA:1052
HP:0030680	Abnormality of cardiovascular system morphology	23414	ZFPM2	ORPHA:2140
HP:0030680	Abnormality of cardiovascular system morphology	23414	ZFPM2	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	1501	CTNND2	ORPHA:281
HP:0030680	Abnormality of cardiovascular system morphology	9037	SEMA5A	ORPHA:281
HP:0030680	Abnormality of cardiovascular system morphology	7291	TWIST1	OMIM:101400
HP:0030680	Abnormality of cardiovascular system morphology	7291	TWIST1	ORPHA:794
HP:0030680	Abnormality of cardiovascular system morphology	6845	VAMP7	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	51741	WWOX	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	4214	MAP3K1	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	2516	NR5A1	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	58524	DMRT3	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	57647	DHX37	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	6736	SRY	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	6736	SRY	ORPHA:1772
HP:0030680	Abnormality of cardiovascular system morphology	190	NR0B1	ORPHA:251510
HP:0030680	Abnormality of cardiovascular system morphology	3782	KCNN3	ORPHA:3473
HP:0030680	Abnormality of cardiovascular system morphology	53834	FGFRL1	OMIM:194190
HP:0030680	Abnormality of cardiovascular system morphology	4853	NOTCH2	ORPHA:955
HP:0030680	Abnormality of cardiovascular system morphology	9935	MAFB	ORPHA:233
HP:0030680	Abnormality of cardiovascular system morphology	1123	CHN1	ORPHA:233
HP:0030680	Abnormality of cardiovascular system morphology	79600	TCTN1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	79600	TCTN1	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	79848	CSPP1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	79848	CSPP1	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	65250	CPLANE1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	200894	ARL13B	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	9731	CEP104	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	219844	HYLS1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	219844	HYLS1	ORPHA:2189
HP:0030680	Abnormality of cardiovascular system morphology	23247	KATNIP	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	219854	TMEM218	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	9786	KIAA0586	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	79867	TCTN2	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	79867	TCTN2	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	80776	B9D2	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	80776	B9D2	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	10464	PIBF1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	80210	ARMC9	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	23116	TOGARAM1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	25776	CBY1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	27077	B9D1	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	27077	B9D1	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	403	ARL3	ORPHA:475
HP:0030680	Abnormality of cardiovascular system morphology	3981	LIG4	ORPHA:235
HP:0030680	Abnormality of cardiovascular system morphology	54888	NSUN2	ORPHA:235
HP:0030680	Abnormality of cardiovascular system morphology	392255	GDF6	OMIM:118100
HP:0030680	Abnormality of cardiovascular system morphology	392255	GDF6	ORPHA:2345
HP:0030680	Abnormality of cardiovascular system morphology	10908	PNPLA6	ORPHA:2377
HP:0030680	Abnormality of cardiovascular system morphology	8516	ITGA8	ORPHA:1848
HP:0030680	Abnormality of cardiovascular system morphology	26281	FGF20	ORPHA:1848
HP:0030680	Abnormality of cardiovascular system morphology	2674	GFRA1	ORPHA:1848
HP:0030680	Abnormality of cardiovascular system morphology	7484	WNT9B	ORPHA:1848
HP:0030680	Abnormality of cardiovascular system morphology	80000	GREB1L	ORPHA:1848
HP:0030680	Abnormality of cardiovascular system morphology	157570	ESCO2	ORPHA:3103
HP:0030680	Abnormality of cardiovascular system morphology	10436	EMG1	ORPHA:1270
HP:0030680	Abnormality of cardiovascular system morphology	57492	ARID1B	ORPHA:251056
HP:0030680	Abnormality of cardiovascular system morphology	1749	DLX5	OMIM:183600
HP:0030680	Abnormality of cardiovascular system morphology	3481	IGF2	ORPHA:2128
HP:0030680	Abnormality of cardiovascular system morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0030680	Abnormality of cardiovascular system morphology	283120	H19	ORPHA:2128
HP:0030680	Abnormality of cardiovascular system morphology	2239	GPC4	ORPHA:373
HP:0030680	Abnormality of cardiovascular system morphology	2239	GPC4	ORPHA:2662
HP:0030680	Abnormality of cardiovascular system morphology	2719	GPC3	ORPHA:373
HP:0030680	Abnormality of cardiovascular system morphology	5915	RARB	ORPHA:2470
HP:0030680	Abnormality of cardiovascular system morphology	4053	LTBP2	ORPHA:3449
HP:0030680	Abnormality of cardiovascular system morphology	81794	ADAMTS10	ORPHA:3449
HP:0030680	Abnormality of cardiovascular system morphology	1836	SLC26A2	ORPHA:93298
HP:0030680	Abnormality of cardiovascular system morphology	9321	TRIP11	ORPHA:93299
HP:0030680	Abnormality of cardiovascular system morphology	10195	ALG3	ORPHA:79321
HP:0030680	Abnormality of cardiovascular system morphology	64324	NSD1	ORPHA:3447
HP:0030680	Abnormality of cardiovascular system morphology	8726	EED	ORPHA:3447
HP:0030680	Abnormality of cardiovascular system morphology	23512	SUZ12	ORPHA:3447
HP:0030680	Abnormality of cardiovascular system morphology	2146	EZH2	ORPHA:3447
HP:0030680	Abnormality of cardiovascular system morphology	1723	DHODH	ORPHA:246
HP:0030680	Abnormality of cardiovascular system morphology	10262	SF3B4	ORPHA:245
HP:0030680	Abnormality of cardiovascular system morphology	10262	SF3B4	ORPHA:1788
HP:0030680	Abnormality of cardiovascular system morphology	9573	GDF3	ORPHA:2345
HP:0030680	Abnormality of cardiovascular system morphology	4222	MEOX1	ORPHA:2345
HP:0030680	Abnormality of cardiovascular system morphology	2245	FGD1	ORPHA:915
HP:0030680	Abnormality of cardiovascular system morphology	10371	SEMA3A	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	81848	SPRY4	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	23767	FLRT3	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	128674	PROKR2	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	128674	PROKR2	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	79625	NDNF	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	389549	FEZF1	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	1630	DCC	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	3730	ANOS1	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	54756	IL17RD	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	285025	CCDC141	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	60675	PROK2	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	1848	DUSP6	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	6870	TACR3	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	55717	WDR11	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	9394	HS6ST1	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	8820	HESX1	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	8820	HESX1	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	8822	FGF17	ORPHA:478
HP:0030680	Abnormality of cardiovascular system morphology	2261	FGFR3	ORPHA:794
HP:0030680	Abnormality of cardiovascular system morphology	51621	KLF13	OMIM:612001
HP:0030680	Abnormality of cardiovascular system morphology	9759	HDAC4	ORPHA:1001
HP:0030680	Abnormality of cardiovascular system morphology	92335	STRADA	ORPHA:500533
HP:0030680	Abnormality of cardiovascular system morphology	5308	PITX2	ORPHA:782
HP:0030680	Abnormality of cardiovascular system morphology	2296	FOXC1	ORPHA:782
HP:0030680	Abnormality of cardiovascular system morphology	54101	RIPK4	ORPHA:1234
HP:0030680	Abnormality of cardiovascular system morphology	5925	RB1	ORPHA:1587
HP:0030680	Abnormality of cardiovascular system morphology	134701	RIPPLY2	ORPHA:2311
HP:0030680	Abnormality of cardiovascular system morphology	10683	DLL3	ORPHA:2311
HP:0030680	Abnormality of cardiovascular system morphology	3955	LFNG	ORPHA:2311
HP:0030680	Abnormality of cardiovascular system morphology	145873	MESP2	ORPHA:2311
HP:0030680	Abnormality of cardiovascular system morphology	5604	MAP2K1	ORPHA:1340
HP:0030680	Abnormality of cardiovascular system morphology	51524	TMEM138	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	23090	ZNF423	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	80184	CEP290	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	80184	CEP290	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	51259	TMEM216	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	51259	TMEM216	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	57545	CC2D2A	ORPHA:2318
HP:0030680	Abnormality of cardiovascular system morphology	57545	CC2D2A	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	84314	TMEM107	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	26123	TCTN3	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	26123	TCTN3	ORPHA:2753
HP:0030680	Abnormality of cardiovascular system morphology	57096	RPGRIP1	ORPHA:564
HP:0030680	Abnormality of cardiovascular system morphology	4784	NFIX	ORPHA:561
HP:0030680	Abnormality of cardiovascular system morphology	51715	RAB23	ORPHA:65759
HP:0030680	Abnormality of cardiovascular system morphology	1954	MEGF8	ORPHA:65759
HP:0030680	Abnormality of cardiovascular system morphology	2707	GJB3	ORPHA:317
HP:0030680	Abnormality of cardiovascular system morphology	2531	KDSR	ORPHA:317
HP:0030680	Abnormality of cardiovascular system morphology	127534	GJB4	ORPHA:317
HP:0030680	Abnormality of cardiovascular system morphology	23476	BRD4	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	9126	SMC3	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	8243	SMC1A	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	25836	NIPBL	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	55869	HDAC8	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	5885	RAD21	ORPHA:199
HP:0030680	Abnormality of cardiovascular system morphology	2464	FRA16E	OMIM:136570
HP:0030680	Abnormality of cardiovascular system morphology	71	ACTG1	OMIM:614583
HP:0030680	Abnormality of cardiovascular system morphology	7227	TRPS1	ORPHA:502
HP:0030680	Abnormality of cardiovascular system morphology	84172	POLR1B	ORPHA:861
HP:0030680	Abnormality of cardiovascular system morphology	9533	POLR1C	ORPHA:861
HP:0030680	Abnormality of cardiovascular system morphology	51082	POLR1D	ORPHA:861
HP:0030680	Abnormality of cardiovascular system morphology	6949	TCOF1	ORPHA:861
HP:0030680	Abnormality of cardiovascular system morphology	6595	SMARCA2	ORPHA:3051
HP:0030680	Abnormality of cardiovascular system morphology	6911	TBX6	ORPHA:1797
HP:0030680	Abnormality of cardiovascular system morphology	6299	SALL1	ORPHA:857
HP:0030680	Abnormality of cardiovascular system morphology	51339	DACT1	ORPHA:857
HP:0030680	Abnormality of cardiovascular system morphology	5077	PAX3	ORPHA:894
HP:0030680	Abnormality of cardiovascular system morphology	4621	MYH3	ORPHA:2990
HP:0030680	Abnormality of cardiovascular system morphology	10225	CD96	ORPHA:1308
HP:0030680	Abnormality of cardiovascular system morphology	79644	SRD5A3	ORPHA:324737
HP:0030680	Abnormality of cardiovascular system morphology	6657	SOX2	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	6658	SOX3	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	9915	ARNT2	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	5015	OTX2	ORPHA:3157
HP:0030680	Abnormality of cardiovascular system morphology	121340	SP7	OMIM:613849
HP:0030680	Abnormality of cardiovascular system morphology	57534	MIB1	OMIM:615092
HP:0030680	Abnormality of cardiovascular system morphology	805	CALM2	OMIM:616249
HP:0030680	Abnormality of cardiovascular system morphology	4285	MIPEP	OMIM:617228
HP:0030680	Abnormality of cardiovascular system morphology	388753	COA6	OMIM:616501
HP:0030680	Abnormality of cardiovascular system morphology	57176	VARS2	OMIM:615917
HP:0030680	Abnormality of cardiovascular system morphology	1906	EDN1	ORPHA:137888
HP:0030680	Abnormality of cardiovascular system morphology	5332	PLCB4	ORPHA:137888
HP:0030680	Abnormality of cardiovascular system morphology	2773	GNAI3	ORPHA:137888
HP:0030680	Abnormality of cardiovascular system morphology	6123	RPL3L	OMIM:619371
HP:0030680	Abnormality of cardiovascular system morphology	55388	MCM10	OMIM:619313
HP:0030680	Abnormality of cardiovascular system morphology	2318	FLNC	OMIM:617047
HP:0030680	Abnormality of cardiovascular system morphology	2318	FLNC	ORPHA:75249
HP:0030680	Abnormality of cardiovascular system morphology	8815	BANF1	OMIM:614008
HP:0030680	Abnormality of cardiovascular system morphology	8777	MPDZ	OMIM:615219
HP:0030680	Abnormality of cardiovascular system morphology	7137	TNNI3	ORPHA:75249
HP:0030680	Abnormality of cardiovascular system morphology	10112	KIF20A	ORPHA:75249
HP:0030680	Abnormality of cardiovascular system morphology	10551	AGR2	OMIM:620233
HP:0030680	Abnormality of cardiovascular system morphology	745	MYRF	OMIM:618280
HP:0030680	Abnormality of cardiovascular system morphology	2294	FOXF1	OMIM:265380
HP:0030680	Abnormality of cardiovascular system morphology	55636	CHD7	OMIM:214800
HP:0030680	Abnormality of cardiovascular system morphology	6885	MAP3K7	OMIM:157800
HP:0030680	Abnormality of cardiovascular system morphology	7046	TGFBR1	OMIM:609192
HP:0030680	Abnormality of cardiovascular system morphology	7048	TGFBR2	OMIM:610168
HP:0030680	Abnormality of cardiovascular system morphology	2157	F8	ORPHA:169805
HP:0030680	Abnormality of cardiovascular system morphology	4774	NFIA	ORPHA:401986
HP:0030680	Abnormality of cardiovascular system morphology	55788	LMBRD1	ORPHA:79284
HP:0030680	Abnormality of cardiovascular system morphology	284058	KANSL1	ORPHA:363965
HP:0030680	Abnormality of cardiovascular system morphology	284058	KANSL1	ORPHA:363958
HP:0030680	Abnormality of cardiovascular system morphology	6678	SPARC	OMIM:616507
HP:0030680	Abnormality of cardiovascular system morphology	165918	RNF168	ORPHA:420741
HP:0030680	Abnormality of cardiovascular system morphology	100131801	PET100	OMIM:619055
HP:0030680	Abnormality of cardiovascular system morphology	92935	MARS2	OMIM:616430
HP:0030680	Abnormality of cardiovascular system morphology	2934	GSN	OMIM:105120
HP:0030680	Abnormality of cardiovascular system morphology	9894	TELO2	ORPHA:488642
HP:0030680	Abnormality of cardiovascular system morphology	145173	B3GLCT	ORPHA:709
HP:0030680	Abnormality of cardiovascular system morphology	440275	EIF2AK4	ORPHA:199241
HP:0030680	Abnormality of cardiovascular system morphology	5293	PIK3CD	ORPHA:221139
HP:0030680	Abnormality of cardiovascular system morphology	90417	KNSTRN	ORPHA:221139
HP:0030680	Abnormality of cardiovascular system morphology	3728	JUP	OMIM:601214
HP:0030680	Abnormality of cardiovascular system morphology	151648	SGO1	OMIM:616201
HP:0030680	Abnormality of cardiovascular system morphology	9631	NUP155	OMIM:615770
HP:0030680	Abnormality of cardiovascular system morphology	6324	SCN1B	OMIM:615377
HP:0030680	Abnormality of cardiovascular system morphology	9997	SCO2	OMIM:604377
HP:0030680	Abnormality of cardiovascular system morphology	23676	SMPX	OMIM:301075
HP:0030680	Abnormality of cardiovascular system morphology	1832	DSP	OMIM:605676
HP:0030680	Abnormality of cardiovascular system morphology	54800	KLHL24	OMIM:620236
HP:0030680	Abnormality of cardiovascular system morphology	22845	DOLK	ORPHA:91131
HP:0030680	Abnormality of cardiovascular system morphology	493753	COA5	OMIM:616500
HP:0030680	Abnormality of cardiovascular system morphology	779	CACNA1S	ORPHA:423
HP:0030680	Abnormality of cardiovascular system morphology	56006	SMG9	OMIM:619995
HP:0030680	Abnormality of cardiovascular system morphology	1616	DAXX	ORPHA:100075
HP:0030680	Abnormality of cardiovascular system morphology	546	ATRX	ORPHA:100075
HP:0030680	Abnormality of cardiovascular system morphology	2131	EXT1	ORPHA:321
HP:0030680	Abnormality of cardiovascular system morphology	2132	EXT2	ORPHA:321
HP:0030680	Abnormality of cardiovascular system morphology	55033	FKBP14	OMIM:614557
HP:0030680	Abnormality of cardiovascular system morphology	7528	YY1	OMIM:617557
HP:0030680	Abnormality of cardiovascular system morphology	168507	PKD1L1	OMIM:617205
HP:0030680	Abnormality of cardiovascular system morphology	8854	ALDH1A2	OMIM:620025
HP:0030680	Abnormality of cardiovascular system morphology	2324	FLT4	OMIM:618780
HP:0030680	Abnormality of cardiovascular system morphology	2657	GDF1	OMIM:208530
HP:0030680	Abnormality of cardiovascular system morphology	4351	MPI	OMIM:602579
HP:0030680	Abnormality of cardiovascular system morphology	3265	HRAS	OMIM:218040
HP:0030680	Abnormality of cardiovascular system morphology	79709	COLGALT1	OMIM:618360
HP:0030680	Abnormality of cardiovascular system morphology	4668	NAGA	OMIM:609242
HP:0030680	Abnormality of cardiovascular system morphology	6439	SFTPB	OMIM:265120
HP:0030680	Abnormality of cardiovascular system morphology	490	ATP2B1	OMIM:619910
HP:0030680	Abnormality of cardiovascular system morphology	9620	CELSR1	OMIM:619319
HP:0030680	Abnormality of cardiovascular system morphology	3988	LIPA	OMIM:278000
HP:0030680	Abnormality of cardiovascular system morphology	1725	DHPS	OMIM:618480
HP:0030680	Abnormality of cardiovascular system morphology	29123	ANKRD11	ORPHA:2332
HP:0030680	Abnormality of cardiovascular system morphology	2990	GUSB	ORPHA:584
HP:0030680	Abnormality of cardiovascular system morphology	3516	RBPJ	ORPHA:974
HP:0030680	Abnormality of cardiovascular system morphology	57572	DOCK6	ORPHA:974
HP:0030680	Abnormality of cardiovascular system morphology	285203	EOGT	ORPHA:974
HP:0030680	Abnormality of cardiovascular system morphology	54567	DLL4	ORPHA:974
HP:0030680	Abnormality of cardiovascular system morphology	23299	BICD2	OMIM:618291
HP:0030680	Abnormality of cardiovascular system morphology	2639	GCDH	ORPHA:25
HP:0030680	Abnormality of cardiovascular system morphology	3674	ITGA2B	OMIM:273800
HP:0030680	Abnormality of cardiovascular system morphology	1785	DNM2	OMIM:615368
HP:0030680	Abnormality of cardiovascular system morphology	2074	ERCC6	ORPHA:90324
HP:0030680	Abnormality of cardiovascular system morphology	25974	MMACHC	ORPHA:79282
HP:0030680	Abnormality of cardiovascular system morphology	3703	STT3A	OMIM:619714
HP:0030680	Abnormality of cardiovascular system morphology	5054	SERPINE1	ORPHA:465
HP:0030680	Abnormality of cardiovascular system morphology	2243	FGA	OMIM:202400
HP:0030680	Abnormality of cardiovascular system morphology	2244	FGB	OMIM:202400
HP:0030680	Abnormality of cardiovascular system morphology	2266	FGG	OMIM:202400
HP:0030680	Abnormality of cardiovascular system morphology	25802	LMOD1	ORPHA:2241
HP:0030680	Abnormality of cardiovascular system morphology	72	ACTG2	ORPHA:2241
HP:0030680	Abnormality of cardiovascular system morphology	4854	NOTCH3	ORPHA:136
HP:0030680	Abnormality of cardiovascular system morphology	5167	ENPP1	OMIM:208000
HP:0030680	Abnormality of cardiovascular system morphology	5167	ENPP1	ORPHA:758
HP:0030680	Abnormality of cardiovascular system morphology	5116	PCNT	ORPHA:2637
HP:0030680	Abnormality of cardiovascular system morphology	368	ABCC6	ORPHA:758
HP:0030680	Abnormality of cardiovascular system morphology	3593	IL12B	ORPHA:3287
HP:0030680	Abnormality of cardiovascular system morphology	6945	MLX	ORPHA:3287
HP:0030680	Abnormality of cardiovascular system morphology	51816	ADA2	ORPHA:820
HP:0030680	Abnormality of cardiovascular system morphology	2767	GNA11	ORPHA:1556
HP:0030680	Abnormality of cardiovascular system morphology	151188	ARL6IP6	ORPHA:1556
HP:0030680	Abnormality of cardiovascular system morphology	5654	HTRA1	OMIM:600142
HP:0030680	Abnormality of cardiovascular system morphology	165	AEBP1	ORPHA:536532
HP:0030680	Abnormality of cardiovascular system morphology	165	AEBP1	OMIM:618000
HP:0030680	Abnormality of cardiovascular system morphology	64218	SEMA4A	ORPHA:440437
HP:0030680	Abnormality of cardiovascular system morphology	657	BMPR1A	ORPHA:440437
HP:0030680	Abnormality of cardiovascular system morphology	6224	RPS20	ORPHA:440437
HP:0030680	Abnormality of cardiovascular system morphology	4072	EPCAM	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	4292	MLH1	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	5395	PMS2	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	27030	MLH3	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	22909	FAN1	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	5290	PIK3CA	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	2956	MSH6	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	5378	PMS1	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	4436	MSH2	ORPHA:144
HP:0030680	Abnormality of cardiovascular system morphology	9820	CUL7	ORPHA:2616
HP:0030680	Abnormality of cardiovascular system morphology	23363	OBSL1	ORPHA:2616
HP:0030680	Abnormality of cardiovascular system morphology	83987	CCDC8	ORPHA:2616
HP:0030680	Abnormality of cardiovascular system morphology	1729	DIAPH1	ORPHA:2573
HP:0030680	Abnormality of cardiovascular system morphology	56922	MCCC1	ORPHA:6
HP:0030680	Abnormality of cardiovascular system morphology	64087	MCCC2	ORPHA:6
HP:0030680	Abnormality of cardiovascular system morphology	326	AIRE	ORPHA:3453
HP:0030680	Abnormality of cardiovascular system morphology	5921	RASA1	ORPHA:90307
HP:0030680	Abnormality of cardiovascular system morphology	2658	GDF2	ORPHA:774
HP:0030680	Abnormality of cardiovascular system morphology	94	ACVRL1	ORPHA:774
HP:0030680	Abnormality of cardiovascular system morphology	2022	ENG	ORPHA:774
HP:0030680	Abnormality of cardiovascular system morphology	2050	EPHB4	ORPHA:137667
HP:0030680	Abnormality of cardiovascular system morphology	2050	EPHB4	ORPHA:1053
HP:0030680	Abnormality of cardiovascular system morphology	55109	AGGF1	ORPHA:90308
HP:0030680	Abnormality of cardiovascular system morphology	6850	SYK	OMIM:619381
HP:0030680	Abnormality of cardiovascular system morphology	3594	IL12RB1	ORPHA:319552
HP:0030680	Abnormality of cardiovascular system morphology	2702	GJA5	OMIM:108770
HP:0030680	Abnormality of cardiovascular system morphology	6888	TALDO1	ORPHA:101028
HP:0030680	Abnormality of cardiovascular system morphology	51422	PRKAG2	OMIM:261740
HP:0030680	Abnormality of cardiovascular system morphology	126328	NDUFA11	OMIM:618236
HP:0030680	Abnormality of cardiovascular system morphology	776	CACNA1D	OMIM:615474
HP:0030680	Abnormality of cardiovascular system morphology	7134	TNNC1	OMIM:613243
HP:0030680	Abnormality of cardiovascular system morphology	529	ATP6V1E1	OMIM:617402
HP:0030680	Abnormality of cardiovascular system morphology	4625	MYH7	OMIM:255160
HP:0030680	Abnormality of cardiovascular system morphology	79087	ALG12	ORPHA:79324
HP:0030680	Abnormality of cardiovascular system morphology	6651	SON	ORPHA:500150
HP:0030680	Abnormality of cardiovascular system morphology	2304	FOXE1	ORPHA:319487
HP:0030680	Abnormality of cardiovascular system morphology	3026	HABP2	ORPHA:319487
HP:0030680	Abnormality of cardiovascular system morphology	9562	MINPP1	ORPHA:319487
HP:0030680	Abnormality of cardiovascular system morphology	80206	FHOD3	OMIM:619402
HP:0005224	Rectal abscess	4688	NCF2	OMIM:233710
HP:0005224	Rectal abscess	81839	VANGL1	OMIM:600145
HP:0005224	Rectal abscess	3507	IGHM	OMIM:601495
HP:0005224	Rectal abscess	3689	ITGB2	OMIM:116920
HP:0005224	Rectal abscess	1536	CYBB	OMIM:306400
HP:0005224	Rectal abscess	5297	PI4KA	ORPHA:436252
HP:0005224	Rectal abscess	57217	TTC7A	ORPHA:436252
HP:0005224	Rectal abscess	653361	NCF1	OMIM:233700
HP:0005224	Rectal abscess	1535	CYBA	OMIM:233690
HP:0005224	Rectal abscess	5880	RAC2	OMIM:608203
HP:0012785	Flexion contracture of finger	64093	SMOC1	OMIM:206920
HP:0012785	Flexion contracture of finger	64093	SMOC1	ORPHA:1106
HP:0012785	Flexion contracture of finger	91179	SCARF2	OMIM:600920
HP:0012785	Flexion contracture of finger	7317	UBA1	ORPHA:1145
HP:0012785	Flexion contracture of finger	3868	KRT16	ORPHA:2199
HP:0012785	Flexion contracture of finger	3857	KRT9	ORPHA:2199
HP:0012785	Flexion contracture of finger	3848	KRT1	ORPHA:2199
HP:0012785	Flexion contracture of finger	4313	MMP2	OMIM:259600
HP:0012785	Flexion contracture of finger	55628	ZNF407	OMIM:619557
HP:0012785	Flexion contracture of finger	23219	FBXO28	OMIM:619777
HP:0012785	Flexion contracture of finger	84265	POLR3GL	OMIM:619234
HP:0012785	Flexion contracture of finger	29072	SETD2	ORPHA:821
HP:0012785	Flexion contracture of finger	10297	APC2	ORPHA:821
HP:0012785	Flexion contracture of finger	51305	KCNK9	ORPHA:166108
HP:0012785	Flexion contracture of finger	825	CAPN3	ORPHA:267
HP:0012785	Flexion contracture of finger	113179	ADAT3	ORPHA:363528
HP:0012785	Flexion contracture of finger	7043	TGFB3	OMIM:615582
HP:0012785	Flexion contracture of finger	5307	PITX1	OMIM:186550
HP:0012785	Flexion contracture of finger	10664	CTCF	ORPHA:363611
HP:0012785	Flexion contracture of finger	26053	AUTS2	ORPHA:352490
HP:0012785	Flexion contracture of finger	219854	TMEM218	OMIM:619562
HP:0012785	Flexion contracture of finger	23291	FBXW11	OMIM:618914
HP:0012785	Flexion contracture of finger	79912	PYROXD1	OMIM:617258
HP:0012785	Flexion contracture of finger	9757	KMT2B	OMIM:619934
HP:0012785	Flexion contracture of finger	3720	JARID2	OMIM:620098
HP:0012785	Flexion contracture of finger	10765	KDM5B	OMIM:618109
HP:0012785	Flexion contracture of finger	9487	PIGL	OMIM:280000
HP:0012785	Flexion contracture of finger	10093	ARPC4	OMIM:620141
HP:0012785	Flexion contracture of finger	25942	SIN3A	OMIM:613406
HP:0012785	Flexion contracture of finger	11011	TLK2	OMIM:618050
HP:0012785	Flexion contracture of finger	80816	ASXL3	OMIM:615485
HP:0012785	Flexion contracture of finger	81857	MED25	ORPHA:464738
HP:0012785	Flexion contracture of finger	8243	SMC1A	OMIM:301044
HP:0012785	Flexion contracture of finger	6909	TBX2	OMIM:618223
HP:0012785	Flexion contracture of finger	1277	COL1A1	OMIM:130060
HP:0012785	Flexion contracture of finger	6134	RPL10	OMIM:300998
HP:0012785	Flexion contracture of finger	23327	NEDD4L	OMIM:617201
HP:0012785	Flexion contracture of finger	8985	PLOD3	OMIM:612394
HP:0012785	Flexion contracture of finger	1889	ECE1	OMIM:613870
HP:0012785	Flexion contracture of finger	4010	LMX1B	ORPHA:2614
HP:0012785	Flexion contracture of finger	6662	SOX9	OMIM:114290
HP:0012785	Flexion contracture of finger	4297	KMT2A	OMIM:605130
HP:0012785	Flexion contracture of finger	1280	COL2A1	ORPHA:485
HP:0012785	Flexion contracture of finger	6840	SVIL	OMIM:619040
HP:0012785	Flexion contracture of finger	342035	GLDN	OMIM:617194
HP:0012785	Flexion contracture of finger	3861	KRT14	ORPHA:69087
HP:0012785	Flexion contracture of finger	57190	SELENON	ORPHA:2020
HP:0012785	Flexion contracture of finger	58	ACTA1	ORPHA:2020
HP:0012785	Flexion contracture of finger	4633	MYL2	ORPHA:2020
HP:0012785	Flexion contracture of finger	3679	ITGA7	ORPHA:2020
HP:0012785	Flexion contracture of finger	9200	HACD1	ORPHA:2020
HP:0012785	Flexion contracture of finger	7170	TPM3	ORPHA:2020
HP:0012785	Flexion contracture of finger	51776	MAP3K20	ORPHA:2020
HP:0012785	Flexion contracture of finger	28982	FLVCR1	ORPHA:88628
HP:0012785	Flexion contracture of finger	28982	FLVCR1	OMIM:609033
HP:0012785	Flexion contracture of finger	5159	PDGFRB	OMIM:601812
HP:0012785	Flexion contracture of finger	388015	RTL1	ORPHA:254528
HP:0012785	Flexion contracture of finger	8788	DLK1	ORPHA:254528
HP:0012785	Flexion contracture of finger	55384	MEG3	ORPHA:254528
HP:0012785	Flexion contracture of finger	4921	DDR2	OMIM:618175
HP:0012785	Flexion contracture of finger	23345	SYNE1	OMIM:618484
HP:0012785	Flexion contracture of finger	23345	SYNE1	ORPHA:319332
HP:0012785	Flexion contracture of finger	22880	MORC2	ORPHA:466768
HP:0012785	Flexion contracture of finger	4747	NEFL	ORPHA:101085
HP:0012785	Flexion contracture of finger	1859	DYRK1A	ORPHA:464311
HP:0012785	Flexion contracture of finger	203859	ANO5	ORPHA:206549
HP:0012785	Flexion contracture of finger	2218	FKTN	ORPHA:272
HP:0012785	Flexion contracture of finger	4621	MYH3	ORPHA:2053
HP:0012785	Flexion contracture of finger	4621	MYH3	ORPHA:1146
HP:0012785	Flexion contracture of finger	4621	MYH3	ORPHA:2990
HP:0012785	Flexion contracture of finger	259232	NALCN	ORPHA:2053
HP:0012785	Flexion contracture of finger	259232	NALCN	ORPHA:1146
HP:0012785	Flexion contracture of finger	8294	H4C9	OMIM:619951
HP:0012785	Flexion contracture of finger	3094	HINT1	ORPHA:324442
HP:0012785	Flexion contracture of finger	8838	CCN6	OMIM:208230
HP:0012785	Flexion contracture of finger	1947	EFNB1	ORPHA:1520
HP:0012785	Flexion contracture of finger	7355	SLC35A2	ORPHA:356961
HP:0012785	Flexion contracture of finger	118429	ANTXR2	ORPHA:2176
HP:0012785	Flexion contracture of finger	5077	PAX3	ORPHA:1529
HP:0012785	Flexion contracture of finger	5077	PAX3	ORPHA:896
HP:0012785	Flexion contracture of finger	5077	PAX3	OMIM:148820
HP:0012785	Flexion contracture of finger	2316	FLNA	OMIM:300244
HP:0012785	Flexion contracture of finger	2316	FLNA	ORPHA:90652
HP:0012785	Flexion contracture of finger	2316	FLNA	ORPHA:1826
HP:0012785	Flexion contracture of finger	2316	FLNA	OMIM:305620
HP:0012785	Flexion contracture of finger	9241	NOG	ORPHA:3250
HP:0012785	Flexion contracture of finger	8200	GDF5	ORPHA:3250
HP:0012785	Flexion contracture of finger	54968	TMEM70	ORPHA:1194
HP:0012785	Flexion contracture of finger	613	BCR	ORPHA:261330
HP:0012785	Flexion contracture of finger	1399	CRKL	ORPHA:261330
HP:0012785	Flexion contracture of finger	5594	MAPK1	ORPHA:261330
HP:0012785	Flexion contracture of finger	84466	MEGF10	OMIM:614399
HP:0012785	Flexion contracture of finger	72	ACTG2	ORPHA:2604
HP:0012785	Flexion contracture of finger	10216	PRG4	ORPHA:2848
HP:0012785	Flexion contracture of finger	3508	IGHMBP2	OMIM:604320
HP:0012785	Flexion contracture of finger	6926	TBX3	ORPHA:3138
HP:0012785	Flexion contracture of finger	51360	MBTPS2	ORPHA:2273
HP:0012785	Flexion contracture of finger	10381	TUBB3	OMIM:600638
HP:0012785	Flexion contracture of finger	9469	CHST3	OMIM:143095
HP:0012785	Flexion contracture of finger	3423	IDS	ORPHA:217085
HP:0012785	Flexion contracture of finger	3423	IDS	ORPHA:217093
HP:0012785	Flexion contracture of finger	64359	NXN	ORPHA:1507
HP:0012785	Flexion contracture of finger	4920	ROR2	ORPHA:1507
HP:0012785	Flexion contracture of finger	2697	GJA1	ORPHA:2710
HP:0012785	Flexion contracture of finger	2697	GJA1	ORPHA:93404
HP:0012785	Flexion contracture of finger	64127	NOD2	OMIM:186580
HP:0012785	Flexion contracture of finger	64127	NOD2	ORPHA:90340
HP:0012785	Flexion contracture of finger	6999	TDO2	OMIM:600627
HP:0012785	Flexion contracture of finger	1301	COL11A1	ORPHA:2021
HP:0012785	Flexion contracture of finger	1302	COL11A2	ORPHA:2021
HP:0012785	Flexion contracture of finger	10716	TBR1	ORPHA:1617
HP:0012785	Flexion contracture of finger	3425	IDUA	OMIM:607015
HP:0012785	Flexion contracture of finger	3425	IDUA	ORPHA:93473
HP:0012785	Flexion contracture of finger	4593	MUSK	OMIM:208150
HP:0012785	Flexion contracture of finger	4593	MUSK	ORPHA:994
HP:0012785	Flexion contracture of finger	63895	PIEZO2	OMIM:114300
HP:0012785	Flexion contracture of finger	63895	PIEZO2	ORPHA:376
HP:0012785	Flexion contracture of finger	63895	PIEZO2	ORPHA:2461
HP:0012785	Flexion contracture of finger	56006	SMG9	OMIM:616920
HP:0012785	Flexion contracture of finger	1857	DVL3	ORPHA:3107
HP:0012785	Flexion contracture of finger	7474	WNT5A	ORPHA:3107
HP:0012785	Flexion contracture of finger	1855	DVL1	ORPHA:3107
HP:0012785	Flexion contracture of finger	2535	FZD2	ORPHA:3107
HP:0012785	Flexion contracture of finger	9508	ADAMTS3	ORPHA:2136
HP:0012785	Flexion contracture of finger	147372	CCBE1	ORPHA:2136
HP:0012785	Flexion contracture of finger	79633	FAT4	ORPHA:2136
HP:0012785	Flexion contracture of finger	5189	PEX1	ORPHA:3220
HP:0012785	Flexion contracture of finger	5190	PEX6	ORPHA:3220
HP:0012785	Flexion contracture of finger	5590	PRKCZ	ORPHA:1606
HP:0012785	Flexion contracture of finger	2563	GABRD	ORPHA:1606
HP:0012785	Flexion contracture of finger	23013	SPEN	ORPHA:1606
HP:0012785	Flexion contracture of finger	8510	MMP23B	ORPHA:1606
HP:0012785	Flexion contracture of finger	7798	LUZP1	ORPHA:1606
HP:0012785	Flexion contracture of finger	6497	SKI	ORPHA:1606
HP:0012785	Flexion contracture of finger	6497	SKI	ORPHA:2462
HP:0012785	Flexion contracture of finger	10630	PDPN	ORPHA:1606
HP:0012785	Flexion contracture of finger	3339	HSPG2	ORPHA:1606
HP:0012785	Flexion contracture of finger	10277	UBE4B	ORPHA:1606
HP:0012785	Flexion contracture of finger	8514	KCNAB2	ORPHA:1606
HP:0012785	Flexion contracture of finger	473	RERE	ORPHA:1606
HP:0012785	Flexion contracture of finger	63976	PRDM16	ORPHA:1606
HP:0012785	Flexion contracture of finger	54897	CASZ1	ORPHA:1606
HP:0012785	Flexion contracture of finger	9719	ADAMTSL2	OMIM:231050
HP:0012785	Flexion contracture of finger	4952	OCRL	OMIM:309000
HP:0012785	Flexion contracture of finger	8517	IKBKG	ORPHA:464
HP:0012785	Flexion contracture of finger	10436	EMG1	ORPHA:1270
HP:0012785	Flexion contracture of finger	57492	ARID1B	ORPHA:251056
HP:0012785	Flexion contracture of finger	11128	POLR3A	ORPHA:3455
HP:0012785	Flexion contracture of finger	2239	GPC4	ORPHA:373
HP:0012785	Flexion contracture of finger	2719	GPC3	ORPHA:373
HP:0012785	Flexion contracture of finger	55612	FERMT1	ORPHA:2908
HP:0012785	Flexion contracture of finger	3977	LIFR	ORPHA:3206
HP:0012785	Flexion contracture of finger	23483	TGDS	ORPHA:1388
HP:0012785	Flexion contracture of finger	2260	FGFR1	OMIM:166250
HP:0012785	Flexion contracture of finger	7140	TNNT3	ORPHA:1146
HP:0012785	Flexion contracture of finger	7169	TPM2	ORPHA:1146
HP:0012785	Flexion contracture of finger	7136	TNNI2	ORPHA:1146
HP:0012785	Flexion contracture of finger	7136	TNNI2	OMIM:601680
HP:0012785	Flexion contracture of finger	4604	MYBPC1	ORPHA:1146
HP:0012785	Flexion contracture of finger	6885	MAP3K7	ORPHA:1826
HP:0012785	Flexion contracture of finger	117581	TWIST2	ORPHA:920
HP:0012785	Flexion contracture of finger	64324	NSD1	ORPHA:3447
HP:0012785	Flexion contracture of finger	8726	EED	ORPHA:3447
HP:0012785	Flexion contracture of finger	23512	SUZ12	ORPHA:3447
HP:0012785	Flexion contracture of finger	2146	EZH2	ORPHA:3447
HP:0012785	Flexion contracture of finger	1723	DHODH	ORPHA:246
HP:0012785	Flexion contracture of finger	257	ALX3	ORPHA:391474
HP:0012785	Flexion contracture of finger	3239	HOXD13	OMIM:186300
HP:0012785	Flexion contracture of finger	3239	HOXD13	ORPHA:93406
HP:0012785	Flexion contracture of finger	54903	MKS1	OMIM:249000
HP:0012785	Flexion contracture of finger	91252	SLC39A13	OMIM:612350
HP:0012785	Flexion contracture of finger	22930	RAB3GAP1	OMIM:619420
HP:0012785	Flexion contracture of finger	7046	TGFBR1	ORPHA:60030
HP:0012785	Flexion contracture of finger	10526	IPO8	ORPHA:60030
HP:0012785	Flexion contracture of finger	7048	TGFBR2	ORPHA:60030
HP:0012785	Flexion contracture of finger	3897	L1CAM	ORPHA:2466
HP:0012785	Flexion contracture of finger	2245	FGD1	ORPHA:915
HP:0012785	Flexion contracture of finger	2200	FBN1	ORPHA:2462
HP:0012785	Flexion contracture of finger	2201	FBN2	ORPHA:115
HP:0012785	Flexion contracture of finger	7227	TRPS1	ORPHA:77258
HP:0012785	Flexion contracture of finger	4088	SMAD3	ORPHA:284984
HP:0012785	Flexion contracture of finger	27238	GPKOW	ORPHA:2570
HP:0012785	Flexion contracture of finger	10466	COG5	ORPHA:263487
HP:0012785	Flexion contracture of finger	55315	SLC29A3	OMIM:602782
HP:0012785	Flexion contracture of finger	23102	TBC1D2B	OMIM:619323
HP:0012785	Flexion contracture of finger	2068	ERCC2	OMIM:610756
HP:0012785	Flexion contracture of finger	2068	ERCC2	ORPHA:1466
HP:0012785	Flexion contracture of finger	51114	ZDHHC9	ORPHA:776
HP:0012785	Flexion contracture of finger	65109	UPF3B	ORPHA:776
HP:0012785	Flexion contracture of finger	9968	MED12	ORPHA:776
HP:0012785	Flexion contracture of finger	2067	ERCC1	OMIM:610758
HP:0012785	Flexion contracture of finger	2067	ERCC1	ORPHA:1466
HP:0012785	Flexion contracture of finger	114548	NLRP3	ORPHA:575
HP:0012785	Flexion contracture of finger	2074	ERCC6	ORPHA:1466
HP:0012785	Flexion contracture of finger	2073	ERCC5	ORPHA:1466
HP:0012785	Flexion contracture of finger	134701	RIPPLY2	ORPHA:2311
HP:0012785	Flexion contracture of finger	10683	DLL3	ORPHA:2311
HP:0012785	Flexion contracture of finger	3955	LFNG	ORPHA:2311
HP:0012785	Flexion contracture of finger	84667	HES7	ORPHA:2311
HP:0012785	Flexion contracture of finger	145873	MESP2	ORPHA:2311
HP:0012785	Flexion contracture of finger	81620	CDT1	ORPHA:2554
HP:0012785	Flexion contracture of finger	5000	ORC4	ORPHA:2554
HP:0012785	Flexion contracture of finger	23594	ORC6	ORPHA:2554
HP:0012785	Flexion contracture of finger	8318	CDC45	ORPHA:2554
HP:0012785	Flexion contracture of finger	990	CDC6	ORPHA:2554
HP:0012785	Flexion contracture of finger	4998	ORC1	ORPHA:2554
HP:0012785	Flexion contracture of finger	51053	GMNN	ORPHA:2554
HP:0012785	Flexion contracture of finger	8260	NAA10	ORPHA:568
HP:0012785	Flexion contracture of finger	54880	BCOR	ORPHA:568
HP:0012785	Flexion contracture of finger	64327	LMBR1	ORPHA:93405
HP:0012785	Flexion contracture of finger	6469	SHH	ORPHA:93405
HP:0012785	Flexion contracture of finger	4927	NUP88	ORPHA:994
HP:0012785	Flexion contracture of finger	7846	TUBA1A	ORPHA:994
HP:0012785	Flexion contracture of finger	4654	MYOD1	ORPHA:994
HP:0012785	Flexion contracture of finger	5913	RAPSN	ORPHA:994
HP:0012785	Flexion contracture of finger	6572	SLC18A3	ORPHA:994
HP:0012785	Flexion contracture of finger	285489	DOK7	ORPHA:994
HP:0012785	Flexion contracture of finger	3914	LAMB3	OMIM:226650
HP:0012785	Flexion contracture of finger	9150	CTDP1	ORPHA:48431
HP:0012785	Flexion contracture of finger	8092	ALX1	ORPHA:306542
HP:0012785	Flexion contracture of finger	29895	MYL11	OMIM:619110
HP:0012785	Flexion contracture of finger	64840	PORCN	ORPHA:2092
HP:0012785	Flexion contracture of finger	23443	SLC35A3	OMIM:615553
HP:0012785	Flexion contracture of finger	285590	SH3PXD2B	ORPHA:137834
HP:0012785	Flexion contracture of finger	1836	SLC26A2	ORPHA:628
HP:0012785	Flexion contracture of finger	25914	RTTN	ORPHA:468631
HP:0012785	Flexion contracture of finger	9935	MAFB	ORPHA:2774
HP:0012785	Flexion contracture of finger	28952	CCDC22	OMIM:300963
HP:0012785	Flexion contracture of finger	8450	CUL4B	ORPHA:85293
HP:0012785	Flexion contracture of finger	1303	COL12A1	ORPHA:610
HP:0012785	Flexion contracture of finger	1291	COL6A1	ORPHA:610
HP:0012785	Flexion contracture of finger	1291	COL6A1	OMIM:158810
HP:0012785	Flexion contracture of finger	1292	COL6A2	ORPHA:610
HP:0012785	Flexion contracture of finger	1292	COL6A2	OMIM:158810
HP:0012785	Flexion contracture of finger	1293	COL6A3	ORPHA:610
HP:0012785	Flexion contracture of finger	1293	COL6A3	OMIM:158810
HP:0012785	Flexion contracture of finger	26092	TOR1AIP1	OMIM:617072
HP:0012785	Flexion contracture of finger	8242	KDM5C	ORPHA:85279
HP:0012785	Flexion contracture of finger	59341	TRPV4	ORPHA:2635
HP:0012785	Flexion contracture of finger	2261	FGFR3	ORPHA:85164
HP:0012785	Flexion contracture of finger	4000	LMNA	ORPHA:1662
HP:0012785	Flexion contracture of finger	10269	ZMPSTE24	ORPHA:1662
HP:0012785	Flexion contracture of finger	1146	CHRNG	ORPHA:2990
HP:0012785	Flexion contracture of finger	23522	KAT6B	ORPHA:3047
HP:0012785	Flexion contracture of finger	26123	TCTN3	ORPHA:2753
HP:0012785	Flexion contracture of finger	64131	XYLT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	124583	CANT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	55790	CSGALNACT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	23529	CLCF1	ORPHA:1545
HP:0012785	Flexion contracture of finger	9244	CRLF1	ORPHA:1545
HP:0012785	Flexion contracture of finger	51002	TPRKB	ORPHA:2065
HP:0012785	Flexion contracture of finger	84942	WDR73	ORPHA:2065
HP:0012785	Flexion contracture of finger	55644	OSGEP	ORPHA:2065
HP:0012785	Flexion contracture of finger	57122	NUP107	ORPHA:2065
HP:0012785	Flexion contracture of finger	10785	WDR4	ORPHA:2065
HP:0012785	Flexion contracture of finger	55746	NUP133	ORPHA:2065
HP:0012785	Flexion contracture of finger	112858	TP53RK	ORPHA:2065
HP:0012785	Flexion contracture of finger	8270	LAGE3	ORPHA:2065
HP:0012785	Flexion contracture of finger	5696	PSMB8	OMIM:256040
HP:0012785	Flexion contracture of finger	56916	SMARCAD1	ORPHA:1658
HP:0012786	Recurrent cystitis	7840	ALMS1	ORPHA:64
HP:0012786	Recurrent cystitis	5184	PEPD	ORPHA:742
HP:0012787	Recurrent pyelonephritis	85358	SHANK3	ORPHA:48652
HP:0012788	Reticulate pigmentation of oral mucosa	3861	KRT14	OMIM:125595
HP:0012789	Hypoplasia of the calcaneus	3930	LBR	OMIM:215140
HP:0012789	Hypoplasia of the calcaneus	10013	HDAC6	OMIM:300863
HP:0012780	Neoplasm of the ear	1146	CHRNG	OMIM:265000
HP:0012780	Neoplasm of the ear	10526	IPO8	OMIM:619472
HP:0012780	Neoplasm of the ear	3735	KARS1	OMIM:613641
HP:0012780	Neoplasm of the ear	161742	SPRED1	ORPHA:137605
HP:0012780	Neoplasm of the ear	3265	HRAS	OMIM:218040
HP:0012780	Neoplasm of the ear	6598	SMARCB1	OMIM:162091
HP:0012780	Neoplasm of the ear	4771	NF2	OMIM:101000
HP:0012780	Neoplasm of the ear	6850	SYK	OMIM:619381
HP:0012780	Neoplasm of the ear	4784	NFIX	OMIM:602535
HP:0012780	Neoplasm of the ear	9382	COG1	OMIM:611209
HP:0012780	Neoplasm of the ear	7080	NKX2-1	OMIM:610978
HP:0012780	Neoplasm of the ear	2138	EYA1	OMIM:113650
HP:0012780	Neoplasm of the ear	6495	SIX1	OMIM:113650
HP:0012780	Neoplasm of the ear	4921	DDR2	OMIM:618175
HP:0012780	Neoplasm of the ear	54914	FOCAD	OMIM:619991
HP:0012780	Neoplasm of the ear	64324	NSD1	ORPHA:821
HP:0012780	Neoplasm of the ear	29072	SETD2	ORPHA:821
HP:0012780	Neoplasm of the ear	10297	APC2	ORPHA:821
HP:0012780	Neoplasm of the ear	7428	VHL	ORPHA:892
HP:0012780	Neoplasm of the ear	595	CCND1	ORPHA:892
HP:0009728	Neoplasm of striated muscle	4763	NF1	OMIM:162200
HP:0009728	Neoplasm of striated muscle	4763	NF1	ORPHA:97685
HP:0009728	Neoplasm of striated muscle	9184	BUB3	ORPHA:1052
HP:0009728	Neoplasm of striated muscle	699	BUB1	ORPHA:1052
HP:0009728	Neoplasm of striated muscle	9702	CEP57	ORPHA:1052
HP:0009728	Neoplasm of striated muscle	9319	TRIP13	ORPHA:1052
HP:0009728	Neoplasm of striated muscle	701	BUB1B	ORPHA:1052
HP:0009728	Neoplasm of striated muscle	4683	NBN	OMIM:251260
HP:0009728	Neoplasm of striated muscle	4683	NBN	ORPHA:647
HP:0009728	Neoplasm of striated muscle	4157	MC1R	ORPHA:626
HP:0009728	Neoplasm of striated muscle	4893	NRAS	ORPHA:626
HP:0009728	Neoplasm of striated muscle	3265	HRAS	OMIM:218040
HP:0009728	Neoplasm of striated muscle	3265	HRAS	ORPHA:2874
HP:0009728	Neoplasm of striated muscle	4292	MLH1	OMIM:276300
HP:0009728	Neoplasm of striated muscle	7157	TP53	ORPHA:524
HP:0009728	Neoplasm of striated muscle	1029	CDKN2A	ORPHA:524
HP:0009728	Neoplasm of striated muscle	4193	MDM2	ORPHA:524
HP:0009728	Neoplasm of striated muscle	11200	CHEK2	ORPHA:524
HP:0009728	Neoplasm of striated muscle	5002	SLC22A18	OMIM:268210
HP:0009728	Neoplasm of striated muscle	5081	PAX7	OMIM:268220
HP:0009728	Neoplasm of striated muscle	2308	FOXO1	OMIM:268220
HP:0009728	Neoplasm of striated muscle	5077	PAX3	OMIM:268220
HP:0009728	Neoplasm of striated muscle	9817	KEAP1	ORPHA:276399
HP:0009728	Neoplasm of striated muscle	23405	DICER1	ORPHA:276399
HP:0009728	Neoplasm of striated muscle	7249	TSC2	OMIM:613254
HP:0009728	Neoplasm of striated muscle	7249	TSC2	ORPHA:805
HP:0009728	Neoplasm of striated muscle	3458	IFNG	OMIM:613254
HP:0009728	Neoplasm of striated muscle	3458	IFNG	ORPHA:805
HP:0009728	Neoplasm of striated muscle	7248	TSC1	ORPHA:805
HP:0009728	Neoplasm of striated muscle	7248	TSC1	OMIM:191100
HP:0009728	Neoplasm of striated muscle	55553	SOX6	OMIM:618971
HP:0009728	Neoplasm of striated muscle	5727	PTCH1	OMIM:109400
HP:0009727	Achromatic retinal patches	7249	TSC2	OMIM:613254
HP:0009727	Achromatic retinal patches	3458	IFNG	OMIM:613254
HP:0009727	Achromatic retinal patches	7248	TSC1	OMIM:191100
HP:0009729	Cardiac rhabdomyoma	7249	TSC2	OMIM:613254
HP:0009729	Cardiac rhabdomyoma	7249	TSC2	ORPHA:805
HP:0009729	Cardiac rhabdomyoma	3458	IFNG	OMIM:613254
HP:0009729	Cardiac rhabdomyoma	3458	IFNG	ORPHA:805
HP:0009729	Cardiac rhabdomyoma	7248	TSC1	ORPHA:805
HP:0009729	Cardiac rhabdomyoma	7248	TSC1	OMIM:191100
HP:0009729	Cardiac rhabdomyoma	55553	SOX6	OMIM:618971
HP:0009729	Cardiac rhabdomyoma	5727	PTCH1	OMIM:109400
HP:0009726	Renal neoplasm	11281	POU6F2	OMIM:601583
HP:0009726	Renal neoplasm	11281	POU6F2	ORPHA:654
HP:0009726	Renal neoplasm	716	C1S	OMIM:617174
HP:0009726	Renal neoplasm	9158	FIBP	ORPHA:500095
HP:0009726	Renal neoplasm	9158	FIBP	OMIM:617107
HP:0009726	Renal neoplasm	9759	HDAC4	ORPHA:1001
HP:0009726	Renal neoplasm	5978	REST	OMIM:616806
HP:0009726	Renal neoplasm	5978	REST	ORPHA:654
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:347
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:220
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:654
HP:0009726	Renal neoplasm	7490	WT1	OMIM:256370
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194080
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:251510
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194072
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194070
HP:0009726	Renal neoplasm	2132	EXT2	ORPHA:52022
HP:0009726	Renal neoplasm	60529	ALX4	ORPHA:52022
HP:0009726	Renal neoplasm	51317	PHF21A	ORPHA:52022
HP:0009726	Renal neoplasm	675	BRCA2	OMIM:613029
HP:0009726	Renal neoplasm	675	BRCA2	ORPHA:654
HP:0009726	Renal neoplasm	675	BRCA2	OMIM:194070
HP:0009726	Renal neoplasm	79728	PALB2	OMIM:610832
HP:0009726	Renal neoplasm	9319	TRIP13	ORPHA:654
HP:0009726	Renal neoplasm	9319	TRIP13	OMIM:617598
HP:0009726	Renal neoplasm	9319	TRIP13	ORPHA:1052
HP:0009726	Renal neoplasm	10155	TRIM28	ORPHA:654
HP:0009726	Renal neoplasm	2719	GPC3	ORPHA:654
HP:0009726	Renal neoplasm	2719	GPC3	ORPHA:373
HP:0009726	Renal neoplasm	2719	GPC3	OMIM:312870
HP:0009726	Renal neoplasm	2719	GPC3	OMIM:194070
HP:0009726	Renal neoplasm	283120	H19	ORPHA:654
HP:0009726	Renal neoplasm	283120	H19	ORPHA:2128
HP:0009726	Renal neoplasm	283120	H19	OMIM:194070
HP:0009726	Renal neoplasm	3481	IGF2	ORPHA:2128
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:130650
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:180860
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:194070
HP:0009726	Renal neoplasm	10984	KCNQ1OT1	ORPHA:2128
HP:0009726	Renal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0009726	Renal neoplasm	2239	GPC4	ORPHA:373
HP:0009726	Renal neoplasm	2239	GPC4	OMIM:312870
HP:0009726	Renal neoplasm	2239	GPC4	OMIM:194070
HP:0009726	Renal neoplasm	1028	CDKN1C	OMIM:130650
HP:0009726	Renal neoplasm	3784	KCNQ1	OMIM:130650
HP:0009726	Renal neoplasm	5727	PTCH1	ORPHA:77301
HP:0009726	Renal neoplasm	641	BLM	ORPHA:125
HP:0009726	Renal neoplasm	171023	ASXL1	ORPHA:97297
HP:0009726	Renal neoplasm	9184	BUB3	ORPHA:1052
HP:0009726	Renal neoplasm	9702	CEP57	ORPHA:1052
HP:0009726	Renal neoplasm	4591	TRIM37	OMIM:253250
HP:0009726	Renal neoplasm	6662	SOX9	ORPHA:251510
HP:0009726	Renal neoplasm	6845	VAMP7	ORPHA:251510
HP:0009726	Renal neoplasm	51741	WWOX	ORPHA:251510
HP:0009726	Renal neoplasm	4214	MAP3K1	ORPHA:251510
HP:0009726	Renal neoplasm	2516	NR5A1	ORPHA:251510
HP:0009726	Renal neoplasm	58524	DMRT3	ORPHA:251510
HP:0009726	Renal neoplasm	57647	DHX37	ORPHA:251510
HP:0009726	Renal neoplasm	6736	SRY	ORPHA:251510
HP:0009726	Renal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0009726	Renal neoplasm	190	NR0B1	ORPHA:251510
HP:0009726	Renal neoplasm	2626	GATA4	ORPHA:251510
HP:0009726	Renal neoplasm	161742	SPRED1	ORPHA:137605
HP:0009726	Renal neoplasm	5080	PAX6	OMIM:194072
HP:0009726	Renal neoplasm	26040	SETBP1	ORPHA:798
HP:0009726	Renal neoplasm	201163	FLCN	ORPHA:122
HP:0009726	Renal neoplasm	201163	FLCN	OMIM:114500
HP:0009726	Renal neoplasm	201163	FLCN	OMIM:135150
HP:0009726	Renal neoplasm	201163	FLCN	OMIM:144700
HP:0009726	Renal neoplasm	7428	VHL	ORPHA:892
HP:0009726	Renal neoplasm	7428	VHL	ORPHA:29072
HP:0009726	Renal neoplasm	7428	VHL	OMIM:193300
HP:0009726	Renal neoplasm	7428	VHL	OMIM:144700
HP:0009726	Renal neoplasm	595	CCND1	ORPHA:892
HP:0009726	Renal neoplasm	595	CCND1	OMIM:114500
HP:0009726	Renal neoplasm	595	CCND1	OMIM:193300
HP:0009726	Renal neoplasm	6714	SRC	OMIM:114500
HP:0009726	Renal neoplasm	10395	DLC1	OMIM:114500
HP:0009726	Renal neoplasm	11200	CHEK2	OMIM:114500
HP:0009726	Renal neoplasm	8313	AXIN2	OMIM:114500
HP:0009726	Renal neoplasm	5290	PIK3CA	OMIM:114500
HP:0009726	Renal neoplasm	5290	PIK3CA	ORPHA:201
HP:0009726	Renal neoplasm	2033	EP300	OMIM:114500
HP:0009726	Renal neoplasm	5782	PTPN12	OMIM:114500
HP:0009726	Renal neoplasm	5320	PLA2G2A	OMIM:114500
HP:0009726	Renal neoplasm	6790	AURKA	OMIM:114500
HP:0009726	Renal neoplasm	1630	DCC	OMIM:114500
HP:0009726	Renal neoplasm	27030	MLH3	OMIM:114500
HP:0009726	Renal neoplasm	581	BAX	OMIM:114500
HP:0009726	Renal neoplasm	25788	RAD54B	OMIM:114500
HP:0009726	Renal neoplasm	699	BUB1	OMIM:114500
HP:0009726	Renal neoplasm	701	BUB1B	OMIM:114500
HP:0009726	Renal neoplasm	2261	FGFR3	OMIM:114500
HP:0009726	Renal neoplasm	7097	TLR2	OMIM:114500
HP:0009726	Renal neoplasm	4893	NRAS	OMIM:114500
HP:0009726	Renal neoplasm	324	APC	OMIM:114500
HP:0009726	Renal neoplasm	1499	CTNNB1	OMIM:114500
HP:0009726	Renal neoplasm	7157	TP53	OMIM:114500
HP:0009726	Renal neoplasm	4163	MCC	OMIM:114500
HP:0009726	Renal neoplasm	207	AKT1	OMIM:114500
HP:0009726	Renal neoplasm	207	AKT1	ORPHA:201
HP:0009726	Renal neoplasm	5157	PDGFRL	OMIM:114500
HP:0009726	Renal neoplasm	5795	PTPRJ	OMIM:114500
HP:0009726	Renal neoplasm	673	BRAF	OMIM:114500
HP:0009726	Renal neoplasm	10483	SEC23B	ORPHA:201
HP:0009726	Renal neoplasm	5728	PTEN	ORPHA:201
HP:0009726	Renal neoplasm	6390	SDHB	ORPHA:201
HP:0009726	Renal neoplasm	6390	SDHB	OMIM:115310
HP:0009726	Renal neoplasm	6390	SDHB	ORPHA:29072
HP:0009726	Renal neoplasm	6392	SDHD	ORPHA:201
HP:0009726	Renal neoplasm	6392	SDHD	ORPHA:29072
HP:0009726	Renal neoplasm	6391	SDHC	ORPHA:201
HP:0009726	Renal neoplasm	6391	SDHC	ORPHA:29072
HP:0009726	Renal neoplasm	205717	USF3	ORPHA:201
HP:0009726	Renal neoplasm	100144748	KLLN	ORPHA:201
HP:0009726	Renal neoplasm	7030	TFE3	OMIM:300854
HP:0009726	Renal neoplasm	7249	TSC2	OMIM:613254
HP:0009726	Renal neoplasm	7249	TSC2	ORPHA:805
HP:0009726	Renal neoplasm	3458	IFNG	OMIM:613254
HP:0009726	Renal neoplasm	3458	IFNG	ORPHA:805
HP:0009726	Renal neoplasm	79798	ARMC5	ORPHA:189427
HP:0009726	Renal neoplasm	2778	GNAS	ORPHA:189427
HP:0009726	Renal neoplasm	2271	FH	OMIM:150800
HP:0009726	Renal neoplasm	2271	FH	ORPHA:29072
HP:0009726	Renal neoplasm	8314	BAP1	OMIM:614327
HP:0009726	Renal neoplasm	6794	STK11	ORPHA:2869
HP:0009726	Renal neoplasm	1743	DLST	ORPHA:29072
HP:0009726	Renal neoplasm	4191	MDH2	ORPHA:29072
HP:0009726	Renal neoplasm	5979	RET	ORPHA:29072
HP:0009726	Renal neoplasm	6389	SDHA	ORPHA:29072
HP:0009726	Renal neoplasm	23095	KIF1B	ORPHA:29072
HP:0009726	Renal neoplasm	8402	SLC25A11	ORPHA:29072
HP:0009726	Renal neoplasm	54949	SDHAF2	ORPHA:29072
HP:0009726	Renal neoplasm	55654	TMEM127	ORPHA:29072
HP:0009726	Renal neoplasm	4763	NF1	ORPHA:29072
HP:0009726	Renal neoplasm	4149	MAX	ORPHA:29072
HP:0009726	Renal neoplasm	7248	TSC1	ORPHA:805
HP:0009726	Renal neoplasm	7248	TSC1	OMIM:191100
HP:0009726	Renal neoplasm	4968	OGG1	OMIM:144700
HP:0009726	Renal neoplasm	11236	RNF139	OMIM:144700
HP:0009726	Renal neoplasm	55193	PBRM1	OMIM:144700
HP:0009726	Renal neoplasm	6927	HNF1A	OMIM:144700
HP:0009726	Renal neoplasm	6928	HNF1B	OMIM:144700
HP:0009726	Renal neoplasm	6928	HNF1B	ORPHA:93111
HP:0009726	Renal neoplasm	9817	KEAP1	ORPHA:276399
HP:0009726	Renal neoplasm	23405	DICER1	ORPHA:276399
HP:0009726	Renal neoplasm	7373	COL14A1	ORPHA:79501
HP:0009726	Renal neoplasm	79719	AAGAB	ORPHA:79501
HP:0009726	Renal neoplasm	79577	CDC73	OMIM:145001
HP:0009726	Renal neoplasm	2304	FOXE1	ORPHA:319487
HP:0009726	Renal neoplasm	3026	HABP2	ORPHA:319487
HP:0009726	Renal neoplasm	9562	MINPP1	ORPHA:319487
HP:0009726	Renal neoplasm	4233	MET	OMIM:605074
HP:0009726	Renal neoplasm	5546	PRCC	OMIM:605074
HP:0009726	Renal neoplasm	64127	NOD2	ORPHA:90340
HP:0009726	Renal neoplasm	4598	MVK	OMIM:260920
HP:0009726	Renal neoplasm	1027	CDKN1B	OMIM:610755
HP:0009726	Renal neoplasm	1027	CDKN1B	ORPHA:276152
HP:0009726	Renal neoplasm	168667	BMPER	OMIM:608022
HP:0009726	Renal neoplasm	129563	DIS3L2	OMIM:267000
HP:0009726	Renal neoplasm	4292	MLH1	ORPHA:587
HP:0009726	Renal neoplasm	2956	MSH6	ORPHA:587
HP:0009726	Renal neoplasm	4436	MSH2	ORPHA:587
HP:0009726	Renal neoplasm	126792	B3GALT6	ORPHA:536467
HP:0009726	Renal neoplasm	25913	POT1	OMIM:616568
HP:0009726	Renal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0009726	Renal neoplasm	657	BMPR1A	ORPHA:440437
HP:0009726	Renal neoplasm	6224	RPS20	ORPHA:440437
HP:0009726	Renal neoplasm	4000	LMNA	ORPHA:79474
HP:0009726	Renal neoplasm	7486	WRN	ORPHA:902
HP:0009726	Renal neoplasm	1029	CDKN2A	ORPHA:524
HP:0009726	Renal neoplasm	4193	MDM2	ORPHA:524
HP:0009726	Renal neoplasm	3265	HRAS	ORPHA:2874
HP:0009726	Renal neoplasm	6597	SMARCA4	OMIM:613325
HP:0009725	Bladder neoplasm	538	ATP7A	OMIM:304150
HP:0009725	Bladder neoplasm	3265	HRAS	OMIM:218040
HP:0009725	Bladder neoplasm	54894	RNF43	ORPHA:157798
HP:0009725	Bladder neoplasm	6714	SRC	OMIM:114500
HP:0009725	Bladder neoplasm	201163	FLCN	OMIM:114500
HP:0009725	Bladder neoplasm	10395	DLC1	OMIM:114500
HP:0009725	Bladder neoplasm	11200	CHEK2	OMIM:114500
HP:0009725	Bladder neoplasm	8313	AXIN2	OMIM:114500
HP:0009725	Bladder neoplasm	5290	PIK3CA	OMIM:114500
HP:0009725	Bladder neoplasm	5290	PIK3CA	OMIM:615108
HP:0009725	Bladder neoplasm	2033	EP300	OMIM:114500
HP:0009725	Bladder neoplasm	5782	PTPN12	OMIM:114500
HP:0009725	Bladder neoplasm	5320	PLA2G2A	OMIM:114500
HP:0009725	Bladder neoplasm	6790	AURKA	OMIM:114500
HP:0009725	Bladder neoplasm	1630	DCC	OMIM:114500
HP:0009725	Bladder neoplasm	27030	MLH3	OMIM:114500
HP:0009725	Bladder neoplasm	581	BAX	OMIM:114500
HP:0009725	Bladder neoplasm	25788	RAD54B	OMIM:114500
HP:0009725	Bladder neoplasm	595	CCND1	OMIM:114500
HP:0009725	Bladder neoplasm	699	BUB1	OMIM:114500
HP:0009725	Bladder neoplasm	701	BUB1B	OMIM:114500
HP:0009725	Bladder neoplasm	2261	FGFR3	OMIM:114500
HP:0009725	Bladder neoplasm	2261	FGFR3	OMIM:109800
HP:0009725	Bladder neoplasm	7097	TLR2	OMIM:114500
HP:0009725	Bladder neoplasm	4893	NRAS	OMIM:114500
HP:0009725	Bladder neoplasm	324	APC	OMIM:114500
HP:0009725	Bladder neoplasm	1499	CTNNB1	OMIM:114500
HP:0009725	Bladder neoplasm	7157	TP53	OMIM:114500
HP:0009725	Bladder neoplasm	4163	MCC	OMIM:114500
HP:0009725	Bladder neoplasm	207	AKT1	OMIM:114500
HP:0009725	Bladder neoplasm	207	AKT1	OMIM:615109
HP:0009725	Bladder neoplasm	5157	PDGFRL	OMIM:114500
HP:0009725	Bladder neoplasm	5795	PTPRJ	OMIM:114500
HP:0009725	Bladder neoplasm	673	BRAF	OMIM:114500
HP:0009725	Bladder neoplasm	5728	PTEN	OMIM:158350
HP:0009725	Bladder neoplasm	3845	KRAS	OMIM:109800
HP:0009725	Bladder neoplasm	5925	RB1	OMIM:109800
HP:0009725	Bladder neoplasm	4913	NTHL1	OMIM:616415
HP:0009725	Bladder neoplasm	4913	NTHL1	ORPHA:454840
HP:0009730	Rhabdomyoma	7249	TSC2	OMIM:613254
HP:0009730	Rhabdomyoma	7249	TSC2	ORPHA:805
HP:0009730	Rhabdomyoma	3458	IFNG	OMIM:613254
HP:0009730	Rhabdomyoma	3458	IFNG	ORPHA:805
HP:0009730	Rhabdomyoma	7248	TSC1	ORPHA:805
HP:0009730	Rhabdomyoma	7248	TSC1	OMIM:191100
HP:0009730	Rhabdomyoma	55553	SOX6	OMIM:618971
HP:0009730	Rhabdomyoma	5727	PTCH1	OMIM:109400
HP:0009731	Cerebral hamartoma	2737	GLI3	ORPHA:672
HP:0009731	Cerebral hamartoma	2737	GLI3	OMIM:146510
HP:0009731	Cerebral hamartoma	8481	OFD1	OMIM:311200
HP:0009731	Cerebral hamartoma	8481	OFD1	ORPHA:2754
HP:0009731	Cerebral hamartoma	6608	SMO	OMIM:241800
HP:0009731	Cerebral hamartoma	64601	VPS16	OMIM:619291
HP:0009731	Cerebral hamartoma	4990	SIX6	OMIM:206900
HP:0009731	Cerebral hamartoma	6657	SOX2	OMIM:206900
HP:0009731	Cerebral hamartoma	4123	MAN2C1	OMIM:619775
HP:0009731	Cerebral hamartoma	65250	CPLANE1	OMIM:277170
HP:0009731	Cerebral hamartoma	65250	CPLANE1	ORPHA:2754
HP:0009731	Cerebral hamartoma	7074	TIAM1	OMIM:619908
HP:0009731	Cerebral hamartoma	10210	TOPORS	ORPHA:2754
HP:0009731	Cerebral hamartoma	9851	KIAA0753	ORPHA:2754
HP:0009731	Cerebral hamartoma	26123	TCTN3	ORPHA:2754
HP:0009731	Cerebral hamartoma	5147	PDE6D	ORPHA:2754
HP:0009731	Cerebral hamartoma	51259	TMEM216	ORPHA:2754
HP:0009731	Cerebral hamartoma	317662	FAM149B1	ORPHA:2754
HP:0009731	Cerebral hamartoma	374654	KIF7	ORPHA:2754
HP:0009731	Cerebral hamartoma	2639	GCDH	ORPHA:25
HP:0009731	Cerebral hamartoma	7249	TSC2	OMIM:613254
HP:0009731	Cerebral hamartoma	7249	TSC2	ORPHA:805
HP:0009731	Cerebral hamartoma	3458	IFNG	OMIM:613254
HP:0009731	Cerebral hamartoma	3458	IFNG	ORPHA:805
HP:0009731	Cerebral hamartoma	7248	TSC1	ORPHA:805
HP:0009731	Cerebral hamartoma	7248	TSC1	OMIM:191100
HP:0009732	Plexiform neurofibroma	4763	NF1	OMIM:601321
HP:0009732	Plexiform neurofibroma	4763	NF1	OMIM:162200
HP:0009732	Plexiform neurofibroma	4763	NF1	OMIM:162210
HP:0009732	Plexiform neurofibroma	4763	NF1	ORPHA:97685
HP:0009732	Plexiform neurofibroma	4292	MLH1	OMIM:276300
HP:0009733	Glioma	4221	MEN1	ORPHA:652
HP:0009733	Glioma	1027	CDKN1B	ORPHA:652
HP:0009733	Glioma	1026	CDKN1A	ORPHA:652
HP:0009733	Glioma	1030	CDKN2B	ORPHA:652
HP:0009733	Glioma	1031	CDKN2C	ORPHA:652
HP:0009733	Glioma	65998	ZFTA	ORPHA:251636
HP:0009733	Glioma	5970	RELA	ORPHA:251636
HP:0009733	Glioma	26040	SETBP1	ORPHA:798
HP:0009733	Glioma	2956	MSH6	OMIM:619097
HP:0009733	Glioma	4763	NF1	OMIM:162200
HP:0009733	Glioma	7157	TP53	OMIM:137800
HP:0009733	Glioma	7157	TP53	ORPHA:524
HP:0009733	Glioma	2064	ERBB2	OMIM:137800
HP:0009733	Glioma	3417	IDH1	OMIM:137800
HP:0009733	Glioma	3417	IDH1	ORPHA:163634
HP:0009733	Glioma	1029	CDKN2A	OMIM:155755
HP:0009733	Glioma	1029	CDKN2A	ORPHA:524
HP:0009733	Glioma	25913	POT1	OMIM:616568
HP:0009733	Glioma	7249	TSC2	OMIM:613254
HP:0009733	Glioma	3458	IFNG	OMIM:613254
HP:0009733	Glioma	324	APC	ORPHA:99818
HP:0009733	Glioma	324	APC	OMIM:175100
HP:0009733	Glioma	324	APC	ORPHA:247806
HP:0009733	Glioma	324	APC	ORPHA:79665
HP:0009733	Glioma	4292	MLH1	OMIM:276300
HP:0009733	Glioma	64324	NSD1	ORPHA:821
HP:0009733	Glioma	29072	SETD2	ORPHA:821
HP:0009733	Glioma	10297	APC2	ORPHA:821
HP:0009733	Glioma	4193	MDM2	ORPHA:524
HP:0009733	Glioma	11200	CHEK2	ORPHA:524
HP:0009733	Glioma	5395	PMS2	OMIM:619101
HP:0009733	Glioma	4437	MSH3	OMIM:617100
HP:0009733	Glioma	4437	MSH3	ORPHA:480536
HP:0009733	Glioma	2260	FGFR1	OMIM:613001
HP:0009733	Glioma	7248	TSC1	OMIM:191100
HP:0009733	Glioma	3418	IDH2	ORPHA:163634
HP:0009733	Glioma	675	BRCA2	OMIM:613029
HP:0009733	Glioma	4771	NF2	ORPHA:637
HP:0009733	Glioma	4771	NF2	OMIM:101000
HP:0009733	Glioma	4683	NBN	OMIM:251260
HP:0009733	Glioma	4683	NBN	ORPHA:647
HP:0009733	Glioma	6608	SMO	OMIM:241800
HP:0009733	Glioma	161742	SPRED1	ORPHA:137605
HP:0009733	Glioma	64218	SEMA4A	ORPHA:440437
HP:0009733	Glioma	657	BMPR1A	ORPHA:440437
HP:0009733	Glioma	6224	RPS20	ORPHA:440437
HP:0009733	Glioma	4072	EPCAM	ORPHA:144
HP:0009733	Glioma	27030	MLH3	ORPHA:144
HP:0009733	Glioma	22909	FAN1	ORPHA:144
HP:0009733	Glioma	7048	TGFBR2	ORPHA:144
HP:0009733	Glioma	3845	KRAS	ORPHA:144
HP:0009733	Glioma	5290	PIK3CA	ORPHA:144
HP:0009733	Glioma	5378	PMS1	ORPHA:144
HP:0009733	Glioma	4436	MSH2	ORPHA:144
HP:0009733	Glioma	4436	MSH2	OMIM:619096
HP:0009734	Optic nerve glioma	4763	NF1	OMIM:601321
HP:0009734	Optic nerve glioma	4763	NF1	OMIM:162200
HP:0009734	Optic nerve glioma	4763	NF1	ORPHA:363700
HP:0009734	Optic nerve glioma	4763	NF1	ORPHA:97685
HP:0009734	Optic nerve glioma	7249	TSC2	OMIM:613254
HP:0009734	Optic nerve glioma	3458	IFNG	OMIM:613254
HP:0009734	Optic nerve glioma	7248	TSC1	OMIM:191100
HP:0009734	Optic nerve glioma	161742	SPRED1	ORPHA:137605
HP:0002570	Steatorrhea	51128	SAR1B	OMIM:246700
HP:0002570	Steatorrhea	51128	SAR1B	ORPHA:71
HP:0002570	Steatorrhea	9414	TJP2	OMIM:607748
HP:0002570	Steatorrhea	3988	LIPA	ORPHA:75233
HP:0002570	Steatorrhea	3988	LIPA	OMIM:278000
HP:0002570	Steatorrhea	4072	EPCAM	ORPHA:92050
HP:0002570	Steatorrhea	105371045	PERCC1	ORPHA:92050
HP:0002570	Steatorrhea	2212	FCGR2A	OMIM:219700
HP:0002570	Steatorrhea	7040	TGFB1	OMIM:219700
HP:0002570	Steatorrhea	7040	TGFB1	ORPHA:586
HP:0002570	Steatorrhea	1080	CFTR	OMIM:219700
HP:0002570	Steatorrhea	1080	CFTR	OMIM:167800
HP:0002570	Steatorrhea	1080	CFTR	ORPHA:586
HP:0002570	Steatorrhea	4351	MPI	OMIM:602579
HP:0002570	Steatorrhea	9056	SLC7A7	ORPHA:470
HP:0002570	Steatorrhea	80270	HSD3B7	OMIM:607765
HP:0002570	Steatorrhea	51651	PTRH2	OMIM:616263
HP:0002570	Steatorrhea	6555	SLC10A2	OMIM:613291
HP:0002570	Steatorrhea	57003	CCDC47	OMIM:618268
HP:0002570	Steatorrhea	3930	LBR	OMIM:613471
HP:0002570	Steatorrhea	5193	PEX12	OMIM:266510
HP:0002570	Steatorrhea	79827	CLMP	OMIM:615237
HP:0002570	Steatorrhea	6718	AKR1D1	OMIM:235555
HP:0002570	Steatorrhea	6718	AKR1D1	ORPHA:79303
HP:0002570	Steatorrhea	118429	ANTXR2	ORPHA:2176
HP:0002570	Steatorrhea	338	APOB	OMIM:615558
HP:0002570	Steatorrhea	3117	HLA-DQA1	OMIM:212750
HP:0002570	Steatorrhea	3119	HLA-DQB1	OMIM:212750
HP:0002570	Steatorrhea	9420	CYP7B1	OMIM:613812
HP:0002570	Steatorrhea	256297	PTF1A	OMIM:615935
HP:0002570	Steatorrhea	11330	CTRC	OMIM:167800
HP:0002570	Steatorrhea	6690	SPINK1	OMIM:167800
HP:0002570	Steatorrhea	5645	PRSS2	OMIM:167800
HP:0002570	Steatorrhea	5644	PRSS1	OMIM:167800
HP:0002570	Steatorrhea	4547	MTTP	ORPHA:14
HP:0002570	Steatorrhea	123264	SLC51B	OMIM:619481
HP:0002570	Steatorrhea	6804	STX1A	ORPHA:586
HP:0002570	Steatorrhea	2947	GSTM3	ORPHA:586
HP:0002570	Steatorrhea	2729	GCLC	ORPHA:586
HP:0002570	Steatorrhea	1084	CEACAM3	ORPHA:586
HP:0002570	Steatorrhea	6556	SLC11A1	ORPHA:586
HP:0002570	Steatorrhea	51164	DCTN4	ORPHA:586
HP:0002570	Steatorrhea	3783	KCNN4	ORPHA:586
HP:0002570	Steatorrhea	4282	MIF	ORPHA:586
HP:0002570	Steatorrhea	1909	EDNRA	ORPHA:586
HP:0002570	Steatorrhea	6550	SLC9A3	ORPHA:586
HP:0002570	Steatorrhea	3162	HMOX1	ORPHA:586
HP:0002570	Steatorrhea	115019	SLC26A9	ORPHA:586
HP:0002570	Steatorrhea	3077	HFE	ORPHA:586
HP:0002570	Steatorrhea	11254	SLC6A14	ORPHA:586
HP:0002570	Steatorrhea	5265	SERPINA1	ORPHA:586
HP:0002570	Steatorrhea	22802	CLCA4	ORPHA:586
HP:0002570	Steatorrhea	4680	CEACAM6	ORPHA:586
HP:0002570	Steatorrhea	6729	SRP54	OMIM:618752
HP:0002570	Steatorrhea	6729	SRP54	OMIM:260400
HP:0002570	Steatorrhea	6729	SRP54	ORPHA:811
HP:0002570	Steatorrhea	51119	SBDS	OMIM:260400
HP:0002570	Steatorrhea	51119	SBDS	ORPHA:811
HP:0002570	Steatorrhea	134218	DNAJC21	OMIM:260400
HP:0002570	Steatorrhea	134218	DNAJC21	ORPHA:811
HP:0002570	Steatorrhea	79631	EFL1	OMIM:617941
HP:0002570	Steatorrhea	79631	EFL1	ORPHA:811
HP:0002570	Steatorrhea	5406	PNLIP	OMIM:614338
HP:0002570	Steatorrhea	8309	ACOX2	OMIM:617308
HP:0002570	Steatorrhea	23729	SHPK	ORPHA:440713
HP:0002570	Steatorrhea	84701	COX4I2	OMIM:612714
HP:0002570	Steatorrhea	5373	PMM2	OMIM:212065
HP:0002571	Achalasia	54809	SAMD9	OMIM:617053
HP:0002571	Achalasia	2982	GUCY1A1	OMIM:615750
HP:0002571	Achalasia	55699	IARS2	OMIM:616007
HP:0002571	Achalasia	55699	IARS2	ORPHA:436174
HP:0002571	Achalasia	6774	STAT3	OMIM:615952
HP:0002571	Achalasia	10625	IVNS1ABP	OMIM:618969
HP:0002571	Achalasia	29926	GMPPA	OMIM:615510
HP:0002571	Achalasia	29926	GMPPA	ORPHA:869
HP:0002571	Achalasia	60684	TRAPPC11	OMIM:615356
HP:0002571	Achalasia	60684	TRAPPC11	ORPHA:869
HP:0002571	Achalasia	8086	AAAS	ORPHA:869
HP:0002571	Achalasia	8086	AAAS	OMIM:231550
HP:0002571	Achalasia	2717	GLA	ORPHA:324
HP:0002571	Achalasia	60	ACTB	ORPHA:79107
HP:0002571	Achalasia	60	ACTB	OMIM:607371
HP:0002571	Achalasia	283446	MYO1H	OMIM:619482
HP:0002571	Achalasia	4212	MEIS2	OMIM:600987
HP:0002571	Achalasia	28982	FLVCR1	OMIM:609033
HP:0002571	Achalasia	1288	COL4A6	ORPHA:1018
HP:0002571	Achalasia	1287	COL4A5	ORPHA:1018
HP:0002572	Episodic vomiting	3155	HMGCL	ORPHA:20
HP:0002572	Episodic vomiting	37	ACADVL	OMIM:201475
HP:0002572	Episodic vomiting	340533	NEXMIF	OMIM:300912
HP:0002572	Episodic vomiting	374291	NDUFS7	OMIM:618224
HP:0002572	Episodic vomiting	1024	CDK8	OMIM:618748
HP:0002572	Episodic vomiting	763	CA5A	OMIM:615751
HP:0002572	Episodic vomiting	23394	ADNP	OMIM:615873
HP:0002572	Episodic vomiting	4719	NDUFS1	OMIM:618226
HP:0002572	Episodic vomiting	85358	SHANK3	OMIM:606232
HP:0002572	Episodic vomiting	3190	HNRNPK	ORPHA:453504
HP:0002572	Episodic vomiting	3190	HNRNPK	ORPHA:352665
HP:0002572	Episodic vomiting	9839	ZEB2	ORPHA:261537
HP:0002572	Episodic vomiting	9839	ZEB2	ORPHA:261552
HP:0002572	Episodic vomiting	4784	NFIX	ORPHA:447980
HP:0002572	Episodic vomiting	4535	MT-ND1	ORPHA:255210
HP:0002572	Episodic vomiting	4535	MT-ND1	OMIM:540000
HP:0002572	Episodic vomiting	4536	MT-ND2	ORPHA:255210
HP:0002572	Episodic vomiting	4537	MT-ND3	ORPHA:255210
HP:0002572	Episodic vomiting	4538	MT-ND4	ORPHA:255210
HP:0002572	Episodic vomiting	4567	MT-TL1	ORPHA:255210
HP:0002572	Episodic vomiting	4567	MT-TL1	OMIM:540000
HP:0002572	Episodic vomiting	4578	MT-TW	ORPHA:255210
HP:0002572	Episodic vomiting	4578	MT-TW	OMIM:540000
HP:0002572	Episodic vomiting	4577	MT-TV	ORPHA:255210
HP:0002572	Episodic vomiting	4577	MT-TV	OMIM:540000
HP:0002572	Episodic vomiting	4508	MT-ATP6	ORPHA:255210
HP:0002572	Episodic vomiting	4540	MT-ND5	ORPHA:255210
HP:0002572	Episodic vomiting	4540	MT-ND5	OMIM:540000
HP:0002572	Episodic vomiting	4541	MT-ND6	ORPHA:255210
HP:0002572	Episodic vomiting	4541	MT-ND6	OMIM:540000
HP:0002572	Episodic vomiting	4566	MT-TK	ORPHA:255210
HP:0002572	Episodic vomiting	4566	MT-TK	OMIM:540000
HP:0002572	Episodic vomiting	58484	NLRC4	OMIM:616050
HP:0002572	Episodic vomiting	728294	D2HGDH	OMIM:600721
HP:0002572	Episodic vomiting	11235	PDCD10	ORPHA:221061
HP:0002572	Episodic vomiting	83605	CCM2	ORPHA:221061
HP:0002572	Episodic vomiting	889	KRIT1	ORPHA:221061
HP:0002572	Episodic vomiting	64711	HS3ST6	OMIM:619367
HP:0002572	Episodic vomiting	7385	UQCRC2	OMIM:615160
HP:0002572	Episodic vomiting	9578	CDC42BPB	OMIM:619841
HP:0002572	Episodic vomiting	440138	ALG11	ORPHA:280071
HP:0002572	Episodic vomiting	10660	LBX1	OMIM:619483
HP:0002572	Episodic vomiting	5832	ALDH18A1	OMIM:219150
HP:0002572	Episodic vomiting	2258	FGF13	OMIM:301095
HP:0002572	Episodic vomiting	2593	GAMT	OMIM:612736
HP:0002572	Episodic vomiting	2710	GK	OMIM:307030
HP:0002572	Episodic vomiting	100996717	NOTCH2NLC	OMIM:603472
HP:0002572	Episodic vomiting	10166	SLC25A15	ORPHA:415
HP:0002572	Episodic vomiting	10166	SLC25A15	OMIM:238970
HP:0002572	Episodic vomiting	4512	MT-CO1	OMIM:540000
HP:0002572	Episodic vomiting	4513	MT-CO2	OMIM:540000
HP:0002572	Episodic vomiting	4514	MT-CO3	OMIM:540000
HP:0002572	Episodic vomiting	4519	MT-CYB	OMIM:540000
HP:0002572	Episodic vomiting	4511	MT-TC	OMIM:540000
HP:0002572	Episodic vomiting	4574	MT-TS1	OMIM:540000
HP:0002572	Episodic vomiting	4575	MT-TS2	OMIM:540000
HP:0002572	Episodic vomiting	4558	MT-TF	OMIM:540000
HP:0002572	Episodic vomiting	4572	MT-TQ	OMIM:540000
HP:0002572	Episodic vomiting	27235	COQ2	OMIM:607426
HP:0002572	Episodic vomiting	27235	COQ2	ORPHA:255249
HP:0002572	Episodic vomiting	55739	NAXD	OMIM:618321
HP:0002572	Episodic vomiting	55898	UNC45A	OMIM:619377
HP:0002572	Episodic vomiting	210	ALAD	ORPHA:100924
HP:0002572	Episodic vomiting	57107	PDSS2	ORPHA:255249
HP:0002572	Episodic vomiting	64324	NSD1	OMIM:117550
HP:0002572	Episodic vomiting	383	ARG1	OMIM:207800
HP:0002572	Episodic vomiting	2184	FAH	OMIM:276700
HP:0002572	Episodic vomiting	7276	TTR	OMIM:105210
HP:0002572	Episodic vomiting	6821	SUOX	OMIM:272300
HP:0002572	Episodic vomiting	8884	SLC5A6	OMIM:618973
HP:0002572	Episodic vomiting	8621	CDK13	OMIM:617360
HP:0002572	Episodic vomiting	1371	CPOX	ORPHA:79273
HP:0002574	Episodic abdominal pain	87178	PNPT1	ORPHA:101111
HP:0002574	Episodic abdominal pain	79577	CDC73	ORPHA:99880
HP:0002574	Episodic abdominal pain	79577	CDC73	ORPHA:143
HP:0002574	Episodic abdominal pain	7428	VHL	ORPHA:29072
HP:0002574	Episodic abdominal pain	7428	VHL	ORPHA:276621
HP:0002574	Episodic abdominal pain	1743	DLST	ORPHA:29072
HP:0002574	Episodic abdominal pain	4191	MDH2	ORPHA:29072
HP:0002574	Episodic abdominal pain	5979	RET	ORPHA:29072
HP:0002574	Episodic abdominal pain	5979	RET	ORPHA:276621
HP:0002574	Episodic abdominal pain	6389	SDHA	ORPHA:29072
HP:0002574	Episodic abdominal pain	23095	KIF1B	ORPHA:29072
HP:0002574	Episodic abdominal pain	2271	FH	ORPHA:29072
HP:0002574	Episodic abdominal pain	8402	SLC25A11	ORPHA:29072
HP:0002574	Episodic abdominal pain	54949	SDHAF2	ORPHA:29072
HP:0002574	Episodic abdominal pain	55654	TMEM127	ORPHA:29072
HP:0002574	Episodic abdominal pain	4763	NF1	ORPHA:29072
HP:0002574	Episodic abdominal pain	6391	SDHC	ORPHA:29072
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:29072
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:276621
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:100093
HP:0002574	Episodic abdominal pain	6390	SDHB	ORPHA:29072
HP:0002574	Episodic abdominal pain	6390	SDHB	ORPHA:276621
HP:0002574	Episodic abdominal pain	4149	MAX	ORPHA:29072
HP:0002574	Episodic abdominal pain	1788	DNMT3A	ORPHA:276621
HP:0002574	Episodic abdominal pain	2034	EPAS1	ORPHA:276621
HP:0002574	Episodic abdominal pain	10020	GNE	ORPHA:3166
HP:0002574	Episodic abdominal pain	1376	CPT2	ORPHA:228305
HP:0002574	Episodic abdominal pain	4023	LPL	OMIM:238600
HP:0002574	Episodic abdominal pain	5277	PIGA	ORPHA:447
HP:0002574	Episodic abdominal pain	2099	ESR1	ORPHA:785
HP:0002574	Episodic abdominal pain	56246	MRAP	ORPHA:361
HP:0002574	Episodic abdominal pain	6770	STAR	ORPHA:361
HP:0002574	Episodic abdominal pain	4158	MC2R	ORPHA:361
HP:0002574	Episodic abdominal pain	23530	NNT	ORPHA:361
HP:0002574	Episodic abdominal pain	10587	TXNRD2	ORPHA:361
HP:0002574	Episodic abdominal pain	1616	DAXX	ORPHA:100075
HP:0002574	Episodic abdominal pain	546	ATRX	ORPHA:100075
HP:0002574	Episodic abdominal pain	4210	MEFV	OMIM:249100
HP:0002574	Episodic abdominal pain	3074	HEXB	OMIM:268800
HP:0002574	Episodic abdominal pain	2065	ERBB3	OMIM:243180
HP:0002574	Episodic abdominal pain	1027	CDKN1B	ORPHA:276152
HP:0002574	Episodic abdominal pain	2313	FLI1	ORPHA:370348
HP:0002574	Episodic abdominal pain	2161	F12	OMIM:610618
HP:0002575	Tracheoesophageal fistula	2294	FOXF1	OMIM:265380
HP:0002575	Tracheoesophageal fistula	2294	FOXF1	ORPHA:210122
HP:0002575	Tracheoesophageal fistula	2187	FANCB	OMIM:300514
HP:0002575	Tracheoesophageal fistula	2187	FANCB	OMIM:314390
HP:0002575	Tracheoesophageal fistula	2187	FANCB	ORPHA:3412
HP:0002575	Tracheoesophageal fistula	2187	FANCB	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10054	UBA2	OMIM:619959
HP:0002575	Tracheoesophageal fistula	6804	STX1A	ORPHA:904
HP:0002575	Tracheoesophageal fistula	7461	CLIP2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	84277	DNAJC30	ORPHA:904
HP:0002575	Tracheoesophageal fistula	8468	FKBP6	ORPHA:904
HP:0002575	Tracheoesophageal fistula	5982	RFC2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	2969	GTF2I	ORPHA:904
HP:0002575	Tracheoesophageal fistula	3984	LIMK1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	9569	GTF2IRD1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	155382	VPS37D	ORPHA:904
HP:0002575	Tracheoesophageal fistula	155368	METTL27	ORPHA:904
HP:0002575	Tracheoesophageal fistula	114049	BUD23	ORPHA:904
HP:0002575	Tracheoesophageal fistula	7458	EIF4H	ORPHA:904
HP:0002575	Tracheoesophageal fistula	84163	GTF2IRD2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	9275	BCL7B	ORPHA:904
HP:0002575	Tracheoesophageal fistula	26608	TBL2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	653361	NCF1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	653361	NCF1	ORPHA:379
HP:0002575	Tracheoesophageal fistula	135886	TMEM270	ORPHA:904
HP:0002575	Tracheoesophageal fistula	51085	MLXIPL	ORPHA:904
HP:0002575	Tracheoesophageal fistula	9031	BAZ1B	ORPHA:904
HP:0002575	Tracheoesophageal fistula	2006	ELN	ORPHA:904
HP:0002575	Tracheoesophageal fistula	5979	RET	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	8516	ITGA8	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	26281	FGF20	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	2674	GFRA1	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	7484	WNT9B	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	80000	GREB1L	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	6558	SLC12A2	OMIM:619083
HP:0002575	Tracheoesophageal fistula	84172	POLR1B	ORPHA:861
HP:0002575	Tracheoesophageal fistula	9533	POLR1C	ORPHA:861
HP:0002575	Tracheoesophageal fistula	51082	POLR1D	ORPHA:861
HP:0002575	Tracheoesophageal fistula	6949	TCOF1	ORPHA:861
HP:0002575	Tracheoesophageal fistula	6299	SALL1	OMIM:107480
HP:0002575	Tracheoesophageal fistula	7547	ZIC3	OMIM:314390
HP:0002575	Tracheoesophageal fistula	55788	LMBRD1	OMIM:277380
HP:0002575	Tracheoesophageal fistula	55636	CHD7	ORPHA:138
HP:0002575	Tracheoesophageal fistula	55636	CHD7	OMIM:214800
HP:0002575	Tracheoesophageal fistula	9723	SEMA3E	ORPHA:138
HP:0002575	Tracheoesophageal fistula	1536	CYBB	ORPHA:379
HP:0002575	Tracheoesophageal fistula	4688	NCF2	ORPHA:379
HP:0002575	Tracheoesophageal fistula	1535	CYBA	ORPHA:379
HP:0002575	Tracheoesophageal fistula	4689	NCF4	ORPHA:379
HP:0002575	Tracheoesophageal fistula	79415	CYBC1	ORPHA:379
HP:0002575	Tracheoesophageal fistula	6657	SOX2	ORPHA:77298
HP:0002575	Tracheoesophageal fistula	6657	SOX2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	4854	NOTCH3	ORPHA:2591
HP:0002575	Tracheoesophageal fistula	5159	PDGFRB	ORPHA:2591
HP:0002575	Tracheoesophageal fistula	2177	FANCD2	OMIM:227646
HP:0002575	Tracheoesophageal fistula	2177	FANCD2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55120	FANCL	OMIM:614083
HP:0002575	Tracheoesophageal fistula	55120	FANCL	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10606	PAICS	OMIM:619859
HP:0002575	Tracheoesophageal fistula	7476	WNT7A	ORPHA:2879
HP:0002575	Tracheoesophageal fistula	672	BRCA1	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10459	MAD2L2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	7516	XRCC2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	29089	UBE2T	ORPHA:84
HP:0002575	Tracheoesophageal fistula	675	BRCA2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2175	FANCA	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2176	FANCC	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2178	FANCE	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2188	FANCF	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2189	FANCG	ORPHA:84
HP:0002575	Tracheoesophageal fistula	5888	RAD51	ORPHA:84
HP:0002575	Tracheoesophageal fistula	5889	RAD51C	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55159	RFWD3	ORPHA:84
HP:0002575	Tracheoesophageal fistula	83990	BRIP1	ORPHA:84
HP:0002575	Tracheoesophageal fistula	57697	FANCM	ORPHA:84
HP:0002575	Tracheoesophageal fistula	79728	PALB2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	84464	SLX4	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2072	ERCC4	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55215	FANCI	ORPHA:84
HP:0002575	Tracheoesophageal fistula	3239	HOXD13	ORPHA:887
HP:0002575	Tracheoesophageal fistula	5422	POLA1	OMIM:301030
HP:0002575	Tracheoesophageal fistula	80169	CTC1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	26277	TINF2	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55651	NHP2	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	79650	USB1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55135	WRAP53	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	51750	RTEL1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	4869	NPM1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7012	TERC	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55505	NOP10	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	5073	PARN	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7015	TERT	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	1736	DKC1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7298	TYMS	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	4281	MID1	ORPHA:2745
HP:0002575	Tracheoesophageal fistula	4613	MYCN	OMIM:164280
HP:0002575	Tracheoesophageal fistula	51729	WBP11	OMIM:619227
HP:0002575	Tracheoesophageal fistula	2260	FGFR1	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	128674	PROKR2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	6658	SOX3	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	9915	ARNT2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	8820	HESX1	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	5015	OTX2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	2201	FBN2	ORPHA:115
HP:0002576	Intussusception	6772	STAT1	OMIM:614162
HP:0002576	Intussusception	57492	ARID1B	OMIM:135900
HP:0002576	Intussusception	4089	SMAD4	OMIM:174900
HP:0002576	Intussusception	657	BMPR1A	OMIM:174900
HP:0002576	Intussusception	657	BMPR1A	ORPHA:157794
HP:0002576	Intussusception	657	BMPR1A	ORPHA:79076
HP:0002576	Intussusception	26585	GREM1	ORPHA:157794
HP:0002576	Intussusception	5156	PDGFRA	OMIM:175510
HP:0002576	Intussusception	6794	STK11	OMIM:175200
HP:0002576	Intussusception	5728	PTEN	ORPHA:79076
HP:0002576	Intussusception	55898	UNC45A	OMIM:619377
HP:0002577	Abnormal stomach morphology	23476	BRD4	ORPHA:199
HP:0002577	Abnormal stomach morphology	9126	SMC3	ORPHA:199
HP:0002577	Abnormal stomach morphology	8243	SMC1A	ORPHA:199
HP:0002577	Abnormal stomach morphology	25836	NIPBL	ORPHA:199
HP:0002577	Abnormal stomach morphology	25836	NIPBL	OMIM:122470
HP:0002577	Abnormal stomach morphology	55869	HDAC8	ORPHA:199
HP:0002577	Abnormal stomach morphology	5885	RAD21	ORPHA:199
HP:0002577	Abnormal stomach morphology	375	ARF1	ORPHA:98892
HP:0002577	Abnormal stomach morphology	4131	MAP1B	ORPHA:98892
HP:0002577	Abnormal stomach morphology	2316	FLNA	ORPHA:98892
HP:0002577	Abnormal stomach morphology	2316	FLNA	OMIM:300048
HP:0002577	Abnormal stomach morphology	23327	NEDD4L	ORPHA:98892
HP:0002577	Abnormal stomach morphology	160418	TMTC3	ORPHA:98892
HP:0002577	Abnormal stomach morphology	10564	ARFGEF2	ORPHA:98892
HP:0002577	Abnormal stomach morphology	55780	ERMARD	ORPHA:98892
HP:0002577	Abnormal stomach morphology	8260	NAA10	OMIM:309800
HP:0002577	Abnormal stomach morphology	54880	BCOR	OMIM:309800
HP:0002577	Abnormal stomach morphology	1859	DYRK1A	ORPHA:268261
HP:0002577	Abnormal stomach morphology	91754	NEK9	OMIM:614262
HP:0002577	Abnormal stomach morphology	8425	LTBP4	OMIM:613177
HP:0002577	Abnormal stomach morphology	9508	ADAMTS3	ORPHA:2136
HP:0002577	Abnormal stomach morphology	147372	CCBE1	ORPHA:2136
HP:0002577	Abnormal stomach morphology	79633	FAT4	ORPHA:2136
HP:0002577	Abnormal stomach morphology	6885	MAP3K7	OMIM:617137
HP:0002577	Abnormal stomach morphology	4744	NEFH	OMIM:616924
HP:0002577	Abnormal stomach morphology	9759	HDAC4	ORPHA:1001
HP:0002577	Abnormal stomach morphology	5590	PRKCZ	ORPHA:1606
HP:0002577	Abnormal stomach morphology	2563	GABRD	ORPHA:1606
HP:0002577	Abnormal stomach morphology	23013	SPEN	ORPHA:1606
HP:0002577	Abnormal stomach morphology	8510	MMP23B	ORPHA:1606
HP:0002577	Abnormal stomach morphology	7798	LUZP1	ORPHA:1606
HP:0002577	Abnormal stomach morphology	6497	SKI	ORPHA:1606
HP:0002577	Abnormal stomach morphology	10630	PDPN	ORPHA:1606
HP:0002577	Abnormal stomach morphology	3339	HSPG2	ORPHA:1606
HP:0002577	Abnormal stomach morphology	10277	UBE4B	ORPHA:1606
HP:0002577	Abnormal stomach morphology	8514	KCNAB2	ORPHA:1606
HP:0002577	Abnormal stomach morphology	473	RERE	ORPHA:1606
HP:0002577	Abnormal stomach morphology	63976	PRDM16	ORPHA:1606
HP:0002577	Abnormal stomach morphology	54897	CASZ1	ORPHA:1606
HP:0002577	Abnormal stomach morphology	81031	SLC2A10	ORPHA:3342
HP:0002577	Abnormal stomach morphology	4534	MTM1	OMIM:310400
HP:0002577	Abnormal stomach morphology	6928	HNF1B	ORPHA:93111
HP:0002577	Abnormal stomach morphology	9839	ZEB2	OMIM:235730
HP:0002577	Abnormal stomach morphology	9839	ZEB2	ORPHA:261537
HP:0002577	Abnormal stomach morphology	9839	ZEB2	ORPHA:261552
HP:0002577	Abnormal stomach morphology	274	BIN1	ORPHA:169189
HP:0002577	Abnormal stomach morphology	64419	MTMR14	ORPHA:169189
HP:0002577	Abnormal stomach morphology	4618	MYF6	ORPHA:169189
HP:0002577	Abnormal stomach morphology	1785	DNM2	ORPHA:169189
HP:0002577	Abnormal stomach morphology	6261	RYR1	ORPHA:169189
HP:0002577	Abnormal stomach morphology	80781	COL18A1	OMIM:267750
HP:0002577	Abnormal stomach morphology	80781	COL18A1	ORPHA:1571
HP:0002577	Abnormal stomach morphology	388015	RTL1	ORPHA:96184
HP:0002577	Abnormal stomach morphology	8788	DLK1	ORPHA:96184
HP:0002577	Abnormal stomach morphology	55384	MEG3	ORPHA:96184
HP:0002577	Abnormal stomach morphology	5009	OTC	ORPHA:664
HP:0002577	Abnormal stomach morphology	374879	ZNF699	OMIM:619488
HP:0002577	Abnormal stomach morphology	613	BCR	ORPHA:261330
HP:0002577	Abnormal stomach morphology	1399	CRKL	ORPHA:261330
HP:0002577	Abnormal stomach morphology	5594	MAPK1	ORPHA:261330
HP:0002577	Abnormal stomach morphology	1723	DHODH	OMIM:263750
HP:0002577	Abnormal stomach morphology	5831	PYCR1	OMIM:614438
HP:0002577	Abnormal stomach morphology	1717	DHCR7	ORPHA:818
HP:0002577	Abnormal stomach morphology	1717	DHCR7	OMIM:270400
HP:0002577	Abnormal stomach morphology	9968	MED12	OMIM:305450
HP:0002577	Abnormal stomach morphology	9968	MED12	ORPHA:93932
HP:0002577	Abnormal stomach morphology	1536	CYBB	ORPHA:379
HP:0002577	Abnormal stomach morphology	4688	NCF2	ORPHA:379
HP:0002577	Abnormal stomach morphology	1535	CYBA	ORPHA:379
HP:0002577	Abnormal stomach morphology	4689	NCF4	ORPHA:379
HP:0002577	Abnormal stomach morphology	653361	NCF1	ORPHA:379
HP:0002577	Abnormal stomach morphology	79415	CYBC1	ORPHA:379
HP:0002577	Abnormal stomach morphology	6926	TBX3	ORPHA:3138
HP:0002577	Abnormal stomach morphology	6926	TBX3	OMIM:181450
HP:0002577	Abnormal stomach morphology	4868	NPHS1	OMIM:256300
HP:0002577	Abnormal stomach morphology	63895	PIEZO2	OMIM:248700
HP:0002577	Abnormal stomach morphology	63895	PIEZO2	ORPHA:2461
HP:0002577	Abnormal stomach morphology	4784	NFIX	OMIM:602535
HP:0002577	Abnormal stomach morphology	5528	PPP2R5D	ORPHA:457279
HP:0002577	Abnormal stomach morphology	5528	PPP2R5D	OMIM:616355
HP:0002577	Abnormal stomach morphology	4791	NFKB2	OMIM:615577
HP:0002577	Abnormal stomach morphology	4052	LTBP1	ORPHA:90349
HP:0002577	Abnormal stomach morphology	30008	EFEMP2	ORPHA:90349
HP:0002577	Abnormal stomach morphology	10516	FBLN5	ORPHA:90349
HP:0002577	Abnormal stomach morphology	284058	KANSL1	OMIM:610443
HP:0002577	Abnormal stomach morphology	9896	FIG4	OMIM:216340
HP:0002577	Abnormal stomach morphology	9896	FIG4	ORPHA:3472
HP:0002577	Abnormal stomach morphology	7020	TFAP2A	OMIM:113620
HP:0002577	Abnormal stomach morphology	3914	LAMB3	OMIM:226700
HP:0002577	Abnormal stomach morphology	3909	LAMA3	OMIM:226700
HP:0002577	Abnormal stomach morphology	3918	LAMC2	OMIM:226700
HP:0002577	Abnormal stomach morphology	55697	VAC14	ORPHA:3472
HP:0002577	Abnormal stomach morphology	404672	GTF2H5	OMIM:616395
HP:0002577	Abnormal stomach morphology	25970	SH2B1	ORPHA:261197
HP:0002577	Abnormal stomach morphology	127833	SYT2	OMIM:619461
HP:0002577	Abnormal stomach morphology	529	ATP6V1E1	OMIM:617402
HP:0002577	Abnormal stomach morphology	55012	PPP2R3C	OMIM:618419
HP:0002577	Abnormal stomach morphology	5062	PAK2	OMIM:618458
HP:0002577	Abnormal stomach morphology	5062	PAK2	ORPHA:1571
HP:0002577	Abnormal stomach morphology	284119	CAVIN1	OMIM:613327
HP:0002577	Abnormal stomach morphology	55670	PEX26	ORPHA:912
HP:0002577	Abnormal stomach morphology	5824	PEX19	ORPHA:912
HP:0002577	Abnormal stomach morphology	5828	PEX2	ORPHA:912
HP:0002577	Abnormal stomach morphology	8504	PEX3	ORPHA:912
HP:0002577	Abnormal stomach morphology	8799	PEX11B	ORPHA:912
HP:0002577	Abnormal stomach morphology	9409	PEX16	ORPHA:912
HP:0002577	Abnormal stomach morphology	5190	PEX6	ORPHA:912
HP:0002577	Abnormal stomach morphology	5830	PEX5	ORPHA:912
HP:0002577	Abnormal stomach morphology	5189	PEX1	ORPHA:912
HP:0002577	Abnormal stomach morphology	5193	PEX12	ORPHA:912
HP:0002577	Abnormal stomach morphology	5194	PEX13	ORPHA:912
HP:0002577	Abnormal stomach morphology	5195	PEX14	ORPHA:912
HP:0002577	Abnormal stomach morphology	5192	PEX10	ORPHA:912
HP:0002577	Abnormal stomach morphology	3265	HRAS	OMIM:218040
HP:0002577	Abnormal stomach morphology	871	SERPINH1	OMIM:613848
HP:0002577	Abnormal stomach morphology	2313	FLI1	ORPHA:2308
HP:0002577	Abnormal stomach morphology	2263	FGFR2	OMIM:101200
HP:0002577	Abnormal stomach morphology	4629	MYH11	OMIM:619350
HP:0002577	Abnormal stomach morphology	64840	PORCN	OMIM:305600
HP:0002577	Abnormal stomach morphology	538	ATP7A	ORPHA:198
HP:0002577	Abnormal stomach morphology	538	ATP7A	OMIM:304150
HP:0002577	Abnormal stomach morphology	2132	EXT2	OMIM:616682
HP:0002577	Abnormal stomach morphology	84942	WDR73	OMIM:251300
HP:0002577	Abnormal stomach morphology	84942	WDR73	ORPHA:2065
HP:0002577	Abnormal stomach morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002577	Abnormal stomach morphology	9509	ADAMTS2	ORPHA:1901
HP:0002577	Abnormal stomach morphology	6925	TCF4	ORPHA:2896
HP:0002577	Abnormal stomach morphology	5832	ALDH18A1	OMIM:601162
HP:0002577	Abnormal stomach morphology	1277	COL1A1	ORPHA:287
HP:0002577	Abnormal stomach morphology	1289	COL5A1	ORPHA:287
HP:0002577	Abnormal stomach morphology	1289	COL5A1	OMIM:619329
HP:0002577	Abnormal stomach morphology	1290	COL5A2	ORPHA:287
HP:0002577	Abnormal stomach morphology	7148	TNXB	OMIM:606408
HP:0002577	Abnormal stomach morphology	113189	CHST14	OMIM:601776
HP:0002577	Abnormal stomach morphology	715	C1R	OMIM:130080
HP:0002577	Abnormal stomach morphology	2743	GLRB	ORPHA:3197
HP:0002577	Abnormal stomach morphology	2743	GLRB	OMIM:614619
HP:0002577	Abnormal stomach morphology	2741	GLRA1	ORPHA:3197
HP:0002577	Abnormal stomach morphology	10243	GPHN	ORPHA:3197
HP:0002577	Abnormal stomach morphology	84896	ATAD1	ORPHA:3197
HP:0002577	Abnormal stomach morphology	9152	SLC6A5	ORPHA:3197
HP:0002577	Abnormal stomach morphology	9152	SLC6A5	OMIM:614618
HP:0002577	Abnormal stomach morphology	7043	TGFB3	OMIM:615582
HP:0002577	Abnormal stomach morphology	169792	GLIS3	OMIM:610199
HP:0002577	Abnormal stomach morphology	23261	CAMTA1	OMIM:614756
HP:0002577	Abnormal stomach morphology	84520	GON7	OMIM:619603
HP:0002577	Abnormal stomach morphology	51002	TPRKB	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55644	OSGEP	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55644	OSGEP	OMIM:617729
HP:0002577	Abnormal stomach morphology	57122	NUP107	ORPHA:2065
HP:0002577	Abnormal stomach morphology	10785	WDR4	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55746	NUP133	ORPHA:2065
HP:0002577	Abnormal stomach morphology	112858	TP53RK	ORPHA:2065
HP:0002577	Abnormal stomach morphology	8270	LAGE3	ORPHA:2065
HP:0002577	Abnormal stomach morphology	51341	ZBTB7A	OMIM:619769
HP:0002577	Abnormal stomach morphology	412	STS	ORPHA:281090
HP:0002577	Abnormal stomach morphology	4790	NFKB1	OMIM:616576
HP:0002577	Abnormal stomach morphology	64135	IFIH1	OMIM:615846
HP:0002577	Abnormal stomach morphology	987	LRBA	OMIM:614700
HP:0002577	Abnormal stomach morphology	326	AIRE	OMIM:240300
HP:0002577	Abnormal stomach morphology	50619	DEF6	OMIM:619573
HP:0002577	Abnormal stomach morphology	1493	CTLA4	OMIM:616100
HP:0002577	Abnormal stomach morphology	999	CDH1	OMIM:137215
HP:0002577	Abnormal stomach morphology	493856	CISD2	OMIM:604928
HP:0002577	Abnormal stomach morphology	493856	CISD2	ORPHA:3463
HP:0002577	Abnormal stomach morphology	7466	WFS1	ORPHA:3463
HP:0002577	Abnormal stomach morphology	57492	ARID1B	OMIM:135900
HP:0002577	Abnormal stomach morphology	2629	GBA1	ORPHA:2072
HP:0002577	Abnormal stomach morphology	5321	PLA2G4A	OMIM:618372
HP:0002577	Abnormal stomach morphology	1244	ABCC2	ORPHA:234
HP:0002577	Abnormal stomach morphology	6804	STX1A	ORPHA:904
HP:0002577	Abnormal stomach morphology	7461	CLIP2	ORPHA:904
HP:0002577	Abnormal stomach morphology	84277	DNAJC30	ORPHA:904
HP:0002577	Abnormal stomach morphology	8468	FKBP6	ORPHA:904
HP:0002577	Abnormal stomach morphology	5982	RFC2	ORPHA:904
HP:0002577	Abnormal stomach morphology	2969	GTF2I	ORPHA:904
HP:0002577	Abnormal stomach morphology	3984	LIMK1	ORPHA:904
HP:0002577	Abnormal stomach morphology	9569	GTF2IRD1	ORPHA:904
HP:0002577	Abnormal stomach morphology	155382	VPS37D	ORPHA:904
HP:0002577	Abnormal stomach morphology	155368	METTL27	ORPHA:904
HP:0002577	Abnormal stomach morphology	114049	BUD23	ORPHA:904
HP:0002577	Abnormal stomach morphology	7458	EIF4H	ORPHA:904
HP:0002577	Abnormal stomach morphology	84163	GTF2IRD2	ORPHA:904
HP:0002577	Abnormal stomach morphology	9275	BCL7B	ORPHA:904
HP:0002577	Abnormal stomach morphology	26608	TBL2	ORPHA:904
HP:0002577	Abnormal stomach morphology	135886	TMEM270	ORPHA:904
HP:0002577	Abnormal stomach morphology	51085	MLXIPL	ORPHA:904
HP:0002577	Abnormal stomach morphology	9031	BAZ1B	ORPHA:904
HP:0002577	Abnormal stomach morphology	2006	ELN	ORPHA:904
HP:0002577	Abnormal stomach morphology	3930	LBR	ORPHA:779
HP:0002577	Abnormal stomach morphology	2022	ENG	ORPHA:329971
HP:0002577	Abnormal stomach morphology	11277	TREX1	OMIM:225750
HP:0002577	Abnormal stomach morphology	3655	ITGA6	ORPHA:79403
HP:0002577	Abnormal stomach morphology	3655	ITGA6	OMIM:619817
HP:0002577	Abnormal stomach morphology	3691	ITGB4	ORPHA:79403
HP:0002577	Abnormal stomach morphology	3691	ITGB4	OMIM:226730
HP:0002577	Abnormal stomach morphology	3691	ITGB4	ORPHA:158684
HP:0002577	Abnormal stomach morphology	5339	PLEC	OMIM:612138
HP:0002577	Abnormal stomach morphology	5339	PLEC	OMIM:226730
HP:0002577	Abnormal stomach morphology	5339	PLEC	ORPHA:158684
HP:0002577	Abnormal stomach morphology	5727	PTCH1	OMIM:109400
HP:0002577	Abnormal stomach morphology	2694	CBLIF	OMIM:261000
HP:0002577	Abnormal stomach morphology	2000	ELF4	OMIM:301074
HP:0002577	Abnormal stomach morphology	10526	IPO8	OMIM:619472
HP:0002577	Abnormal stomach morphology	3514	IGKC	ORPHA:183675
HP:0002577	Abnormal stomach morphology	3501	IGHG2	ORPHA:183675
HP:0002577	Abnormal stomach morphology	54914	FOCAD	OMIM:619991
HP:0002577	Abnormal stomach morphology	9652	SKIC3	ORPHA:84064
HP:0002577	Abnormal stomach morphology	6499	SKIC2	ORPHA:84064
HP:0002577	Abnormal stomach morphology	6850	SYK	OMIM:619381
HP:0002577	Abnormal stomach morphology	50943	FOXP3	ORPHA:37042
HP:0002577	Abnormal stomach morphology	355	FAS	ORPHA:3261
HP:0002577	Abnormal stomach morphology	356	FASLG	ORPHA:3261
HP:0002577	Abnormal stomach morphology	5580	PRKCD	ORPHA:3261
HP:0002577	Abnormal stomach morphology	10125	RASGRP1	ORPHA:3261
HP:0002577	Abnormal stomach morphology	8737	RIPK1	OMIM:618108
HP:0002577	Abnormal stomach morphology	22900	CARD8	OMIM:619079
HP:0002577	Abnormal stomach morphology	4292	MLH1	ORPHA:587
HP:0002577	Abnormal stomach morphology	2956	MSH6	ORPHA:587
HP:0002577	Abnormal stomach morphology	4436	MSH2	ORPHA:587
HP:0002577	Abnormal stomach morphology	6714	SRC	OMIM:114500
HP:0002577	Abnormal stomach morphology	201163	FLCN	OMIM:114500
HP:0002577	Abnormal stomach morphology	10395	DLC1	OMIM:114500
HP:0002577	Abnormal stomach morphology	2033	EP300	OMIM:114500
HP:0002577	Abnormal stomach morphology	5782	PTPN12	OMIM:114500
HP:0002577	Abnormal stomach morphology	5320	PLA2G2A	OMIM:114500
HP:0002577	Abnormal stomach morphology	6790	AURKA	OMIM:114500
HP:0002577	Abnormal stomach morphology	1630	DCC	OMIM:114500
HP:0002577	Abnormal stomach morphology	27030	MLH3	OMIM:114500
HP:0002577	Abnormal stomach morphology	581	BAX	OMIM:114500
HP:0002577	Abnormal stomach morphology	25788	RAD54B	OMIM:114500
HP:0002577	Abnormal stomach morphology	595	CCND1	OMIM:114500
HP:0002577	Abnormal stomach morphology	2261	FGFR3	OMIM:114500
HP:0002577	Abnormal stomach morphology	7097	TLR2	OMIM:114500
HP:0002577	Abnormal stomach morphology	4893	NRAS	OMIM:114500
HP:0002577	Abnormal stomach morphology	1499	CTNNB1	OMIM:114500
HP:0002577	Abnormal stomach morphology	4163	MCC	OMIM:114500
HP:0002577	Abnormal stomach morphology	207	AKT1	OMIM:114500
HP:0002577	Abnormal stomach morphology	5157	PDGFRL	OMIM:114500
HP:0002577	Abnormal stomach morphology	5795	PTPRJ	OMIM:114500
HP:0002577	Abnormal stomach morphology	673	BRAF	OMIM:114500
HP:0002577	Abnormal stomach morphology	8314	BAP1	ORPHA:618
HP:0002577	Abnormal stomach morphology	4286	MITF	ORPHA:618
HP:0002577	Abnormal stomach morphology	1019	CDK4	ORPHA:618
HP:0002577	Abnormal stomach morphology	4255	MGMT	ORPHA:618
HP:0002577	Abnormal stomach morphology	54386	TERF2IP	ORPHA:618
HP:0002577	Abnormal stomach morphology	4157	MC1R	ORPHA:618
HP:0002577	Abnormal stomach morphology	65057	ACD	ORPHA:618
HP:0002577	Abnormal stomach morphology	7015	TERT	ORPHA:618
HP:0002577	Abnormal stomach morphology	25913	POT1	ORPHA:618
HP:0002577	Abnormal stomach morphology	1030	CDKN2B	ORPHA:618
HP:0002577	Abnormal stomach morphology	4089	SMAD4	OMIM:174900
HP:0002577	Abnormal stomach morphology	6389	SDHA	ORPHA:44890
HP:0002577	Abnormal stomach morphology	6390	SDHB	ORPHA:44890
HP:0002577	Abnormal stomach morphology	6391	SDHC	ORPHA:44890
HP:0002577	Abnormal stomach morphology	5156	PDGFRA	ORPHA:44890
HP:0002577	Abnormal stomach morphology	3815	KIT	ORPHA:44890
HP:0002577	Abnormal stomach morphology	5573	PRKAR1A	ORPHA:1359
HP:0002577	Abnormal stomach morphology	50940	PDE11A	ORPHA:1359
HP:0002577	Abnormal stomach morphology	641	BLM	ORPHA:125
HP:0002577	Abnormal stomach morphology	9184	BUB3	ORPHA:1052
HP:0002577	Abnormal stomach morphology	699	BUB1	ORPHA:1052
HP:0002577	Abnormal stomach morphology	9702	CEP57	ORPHA:1052
HP:0002577	Abnormal stomach morphology	9319	TRIP13	ORPHA:1052
HP:0002577	Abnormal stomach morphology	701	BUB1B	ORPHA:1052
HP:0002577	Abnormal stomach morphology	64218	SEMA4A	ORPHA:440437
HP:0002577	Abnormal stomach morphology	657	BMPR1A	ORPHA:440437
HP:0002577	Abnormal stomach morphology	6224	RPS20	ORPHA:440437
HP:0002577	Abnormal stomach morphology	6794	STK11	ORPHA:2869
HP:0002577	Abnormal stomach morphology	3553	IL1B	OMIM:613659
HP:0002577	Abnormal stomach morphology	4595	MUTYH	OMIM:613659
HP:0002577	Abnormal stomach morphology	3557	IL1RN	OMIM:613659
HP:0002577	Abnormal stomach morphology	3845	KRAS	OMIM:613659
HP:0002577	Abnormal stomach morphology	843	CASP10	OMIM:613659
HP:0002577	Abnormal stomach morphology	3659	IRF1	OMIM:613659
HP:0002577	Abnormal stomach morphology	2064	ERBB2	OMIM:613659
HP:0002577	Abnormal stomach morphology	5290	PIK3CA	OMIM:613659
HP:0002577	Abnormal stomach morphology	1316	KLF6	OMIM:613659
HP:0002577	Abnormal stomach morphology	324	APC	OMIM:613659
HP:0002577	Abnormal stomach morphology	4437	MSH3	ORPHA:480536
HP:0002577	Abnormal stomach morphology	7373	COL14A1	ORPHA:79501
HP:0002577	Abnormal stomach morphology	79719	AAGAB	ORPHA:79501
HP:0002577	Abnormal stomach morphology	7157	TP53	ORPHA:524
HP:0002577	Abnormal stomach morphology	1029	CDKN2A	ORPHA:524
HP:0002577	Abnormal stomach morphology	4193	MDM2	ORPHA:524
HP:0002577	Abnormal stomach morphology	11200	CHEK2	ORPHA:524
HP:0002577	Abnormal stomach morphology	11200	CHEK2	OMIM:609265
HP:0002577	Abnormal stomach morphology	5265	SERPINA1	OMIM:613490
HP:0002577	Abnormal stomach morphology	8313	AXIN2	OMIM:608615
HP:0002577	Abnormal stomach morphology	8915	BCL10	OMIM:137245
HP:0002577	Abnormal stomach morphology	54894	RNF43	ORPHA:157798
HP:0002578	Gastroparesis	291	SLC25A4	ORPHA:254892
HP:0002578	Gastroparesis	5428	POLG	ORPHA:254892
HP:0002578	Gastroparesis	5428	POLG	OMIM:603041
HP:0002578	Gastroparesis	5428	POLG	ORPHA:70595
HP:0002578	Gastroparesis	5428	POLG	OMIM:157640
HP:0002578	Gastroparesis	5428	POLG	OMIM:607459
HP:0002578	Gastroparesis	56652	TWNK	ORPHA:254892
HP:0002578	Gastroparesis	56652	TWNK	ORPHA:70595
HP:0002578	Gastroparesis	56652	TWNK	OMIM:607459
HP:0002578	Gastroparesis	11232	POLG2	ORPHA:254892
HP:0002578	Gastroparesis	11232	POLG2	OMIM:610131
HP:0002578	Gastroparesis	50484	RRM2B	ORPHA:254892
HP:0002578	Gastroparesis	4629	MYH11	OMIM:619350
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:177904
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:177901
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:98754
HP:0002578	Gastroparesis	4692	NDN	ORPHA:177904
HP:0002578	Gastroparesis	4692	NDN	ORPHA:177901
HP:0002578	Gastroparesis	4692	NDN	ORPHA:98754
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:177904
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:177901
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:98754
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:177904
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:177901
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:98754
HP:0002578	Gastroparesis	538	ATP7A	ORPHA:198
HP:0002578	Gastroparesis	72	ACTG2	OMIM:155310
HP:0002578	Gastroparesis	6651	SON	ORPHA:500150
HP:0002578	Gastroparesis	27125	AFF4	OMIM:616368
HP:0002578	Gastroparesis	5885	RAD21	OMIM:611376
HP:0002578	Gastroparesis	1890	TYMP	OMIM:603041
HP:0002578	Gastroparesis	3190	HNRNPK	ORPHA:352665
HP:0002578	Gastroparesis	3190	HNRNPK	ORPHA:453504
HP:0002578	Gastroparesis	4247	MGAT2	ORPHA:79329
HP:0002578	Gastroparesis	219972	MPEG1	OMIM:619223
HP:0002578	Gastroparesis	54968	TMEM70	OMIM:614052
HP:0002578	Gastroparesis	6885	MAP3K7	OMIM:157800
HP:0002578	Gastroparesis	5610	EIF2AK2	OMIM:618877
HP:0002578	Gastroparesis	54832	VPS13C	ORPHA:2828
HP:0002578	Gastroparesis	11315	PARK7	ORPHA:2828
HP:0002578	Gastroparesis	7345	UCHL1	ORPHA:2828
HP:0002578	Gastroparesis	27429	HTRA2	ORPHA:2828
HP:0002578	Gastroparesis	120892	LRRK2	ORPHA:2828
HP:0002578	Gastroparesis	9829	DNAJC6	ORPHA:2828
HP:0002578	Gastroparesis	6622	SNCA	ORPHA:2828
HP:0002578	Gastroparesis	5420	PODXL	ORPHA:2828
HP:0002578	Gastroparesis	65018	PINK1	ORPHA:2828
HP:0002578	Gastroparesis	8867	SYNJ1	ORPHA:2828
HP:0002578	Gastroparesis	5071	PRKN	ORPHA:2828
HP:0002579	Gastrointestinal dysmotility	54809	SAMD9	OMIM:617053
HP:0002579	Gastrointestinal dysmotility	2982	GUCY1A1	OMIM:615750
HP:0002579	Gastrointestinal dysmotility	55699	IARS2	OMIM:616007
HP:0002579	Gastrointestinal dysmotility	55699	IARS2	ORPHA:436174
HP:0002579	Gastrointestinal dysmotility	6774	STAT3	OMIM:615952
HP:0002579	Gastrointestinal dysmotility	10625	IVNS1ABP	OMIM:618969
HP:0002579	Gastrointestinal dysmotility	29926	GMPPA	OMIM:615510
HP:0002579	Gastrointestinal dysmotility	29926	GMPPA	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	60684	TRAPPC11	OMIM:615356
HP:0002579	Gastrointestinal dysmotility	60684	TRAPPC11	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	8086	AAAS	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	8086	AAAS	OMIM:231550
HP:0002579	Gastrointestinal dysmotility	2717	GLA	ORPHA:324
HP:0002579	Gastrointestinal dysmotility	60	ACTB	ORPHA:79107
HP:0002579	Gastrointestinal dysmotility	60	ACTB	OMIM:607371
HP:0002579	Gastrointestinal dysmotility	4212	MEIS2	OMIM:600987
HP:0002579	Gastrointestinal dysmotility	28982	FLVCR1	OMIM:609033
HP:0002579	Gastrointestinal dysmotility	1288	COL4A6	ORPHA:1018
HP:0002579	Gastrointestinal dysmotility	1287	COL4A5	ORPHA:1018
HP:0002579	Gastrointestinal dysmotility	6651	SON	ORPHA:500150
HP:0002579	Gastrointestinal dysmotility	816	CAMK2B	OMIM:617799
HP:0002579	Gastrointestinal dysmotility	815	CAMK2A	OMIM:617798
HP:0002579	Gastrointestinal dysmotility	59335	PRDM12	OMIM:616488
HP:0002579	Gastrointestinal dysmotility	773	CACNA1A	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	6507	SLC1A3	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	477	ATP1A2	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	478	ATP1A3	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	128989	TANGO2	ORPHA:480864
HP:0002579	Gastrointestinal dysmotility	1717	DHCR7	OMIM:270400
HP:0002579	Gastrointestinal dysmotility	1019	CDK4	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	4193	MDM2	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	8091	HMGA2	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	7466	WFS1	ORPHA:411590
HP:0002579	Gastrointestinal dysmotility	25828	TXN2	ORPHA:478029
HP:0002579	Gastrointestinal dysmotility	55148	UBR7	OMIM:619189
HP:0002579	Gastrointestinal dysmotility	101060691	NUTM2B-AS1	OMIM:618637
HP:0002579	Gastrointestinal dysmotility	2521	FUS	ORPHA:99967
HP:0002579	Gastrointestinal dysmotility	1649	DDIT3	ORPHA:99967
HP:0002579	Gastrointestinal dysmotility	3028	HSD17B10	ORPHA:391428
HP:0002579	Gastrointestinal dysmotility	91574	MTRFR	ORPHA:254930
HP:0002579	Gastrointestinal dysmotility	91574	MTRFR	OMIM:613559
HP:0002579	Gastrointestinal dysmotility	2184	FAH	OMIM:276700
HP:0002579	Gastrointestinal dysmotility	6535	SLC6A8	OMIM:300352
HP:0002579	Gastrointestinal dysmotility	6535	SLC6A8	ORPHA:52503
HP:0002579	Gastrointestinal dysmotility	2130	EWSR1	ORPHA:83469
HP:0002579	Gastrointestinal dysmotility	7490	WT1	ORPHA:83469
HP:0002579	Gastrointestinal dysmotility	50943	FOXP3	ORPHA:37042
HP:0002579	Gastrointestinal dysmotility	50943	FOXP3	OMIM:304790
HP:0002579	Gastrointestinal dysmotility	6663	SOX10	ORPHA:163746
HP:0002579	Gastrointestinal dysmotility	6663	SOX10	OMIM:609136
HP:0002579	Gastrointestinal dysmotility	284119	CAVIN1	OMIM:613327
HP:0002579	Gastrointestinal dysmotility	5498	PPOX	ORPHA:79473
HP:0002579	Gastrointestinal dysmotility	3145	HMBS	ORPHA:79276
HP:0002579	Gastrointestinal dysmotility	26153	KIF26A	OMIM:620156
HP:0002579	Gastrointestinal dysmotility	3190	HNRNPK	ORPHA:453504
HP:0002579	Gastrointestinal dysmotility	3190	HNRNPK	ORPHA:352665
HP:0002579	Gastrointestinal dysmotility	4558	MT-TF	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4572	MT-TQ	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4512	MT-CO1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4513	MT-CO2	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4514	MT-CO3	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4578	MT-TW	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4540	MT-ND5	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4541	MT-ND6	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4535	MT-ND1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4538	MT-ND4	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4567	MT-TL1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4574	MT-TS1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4575	MT-TS2	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4564	MT-TH	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	5428	POLG	OMIM:607459
HP:0002579	Gastrointestinal dysmotility	5428	POLG	OMIM:613662
HP:0002579	Gastrointestinal dysmotility	5428	POLG	OMIM:603041
HP:0002579	Gastrointestinal dysmotility	5428	POLG	ORPHA:70595
HP:0002579	Gastrointestinal dysmotility	56652	TWNK	OMIM:607459
HP:0002579	Gastrointestinal dysmotility	56652	TWNK	ORPHA:70595
HP:0002579	Gastrointestinal dysmotility	72	ACTG2	OMIM:155310
HP:0002579	Gastrointestinal dysmotility	2316	FLNA	OMIM:300048
HP:0002579	Gastrointestinal dysmotility	151648	SGO1	OMIM:616201
HP:0002579	Gastrointestinal dysmotility	6608	SMO	OMIM:601707
HP:0002579	Gastrointestinal dysmotility	3423	IDS	OMIM:309900
HP:0002579	Gastrointestinal dysmotility	3980	LIG3	OMIM:619780
HP:0002579	Gastrointestinal dysmotility	672	BRCA1	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	285282	RABL3	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	7157	TP53	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	675	BRCA2	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	3845	KRAS	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	1029	CDKN2A	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	79728	PALB2	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	4089	SMAD4	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	23022	PALLD	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	5885	RAD21	OMIM:611376
HP:0002579	Gastrointestinal dysmotility	2065	ERBB3	OMIM:243180
HP:0002579	Gastrointestinal dysmotility	1890	TYMP	OMIM:603041
HP:0002579	Gastrointestinal dysmotility	6572	SLC18A3	OMIM:617239
HP:0002579	Gastrointestinal dysmotility	2984	GUCY2C	OMIM:614665
HP:0002579	Gastrointestinal dysmotility	6804	STX1A	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	2947	GSTM3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	7040	TGFB1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	7040	TGFB1	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	2729	GCLC	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1084	CEACAM3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	6556	SLC11A1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	51164	DCTN4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3783	KCNN4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	4282	MIF	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1909	EDNRA	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	6550	SLC9A3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3162	HMOX1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	115019	SLC26A9	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3077	HFE	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	11254	SLC6A14	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	5265	SERPINA1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1080	CFTR	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1080	CFTR	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	22802	CLCA4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	4680	CEACAM6	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	2212	FCGR2A	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	50484	RRM2B	ORPHA:298
HP:0002579	Gastrointestinal dysmotility	1371	CPOX	ORPHA:79273
HP:0002579	Gastrointestinal dysmotility	79827	CLMP	OMIM:615237
HP:0002579	Gastrointestinal dysmotility	283446	MYO1H	OMIM:619482
HP:0002579	Gastrointestinal dysmotility	4629	MYH11	OMIM:619350
HP:0002579	Gastrointestinal dysmotility	8929	PHOX2B	OMIM:209880
HP:0002579	Gastrointestinal dysmotility	25802	LMOD1	ORPHA:2241
HP:0002579	Gastrointestinal dysmotility	4638	MYLK	ORPHA:2241
HP:0002579	Gastrointestinal dysmotility	59	ACTA2	OMIM:613834
HP:0002579	Gastrointestinal dysmotility	10398	MYL9	OMIM:619365
HP:0012793	Kinked brainstem	84162	BLTP1	OMIM:617822
HP:0012793	Kinked brainstem	29954	POMT2	OMIM:236670
HP:0012793	Kinked brainstem	9215	LARGE1	OMIM:236670
HP:0012793	Kinked brainstem	79147	FKRP	OMIM:236670
HP:0012793	Kinked brainstem	10585	POMT1	OMIM:236670
HP:0012793	Kinked brainstem	2218	FKTN	OMIM:236670
HP:0012794	Periventricular white matter hypodensities	2232	FDXR	ORPHA:543470
HP:0012795	Abnormal optic disc morphology	2625	GATA3	OMIM:146255
HP:0012795	Abnormal optic disc morphology	5080	PAX6	ORPHA:137902
HP:0012795	Abnormal optic disc morphology	9488	PIGB	OMIM:618580
HP:0012795	Abnormal optic disc morphology	778	CACNA1F	OMIM:300476
HP:0012795	Abnormal optic disc morphology	9131	AIFM1	OMIM:300232
HP:0012795	Abnormal optic disc morphology	54539	NDUFB11	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	51103	NDUFAF1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	51300	TIMMDC1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4716	NDUFB10	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	55863	TMEM126B	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4694	NDUFA1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4726	NDUFS6	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4709	NDUFB3	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	80224	NUBPL	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4715	NDUFB9	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	2895	GRID2	OMIM:616204
HP:0012795	Abnormal optic disc morphology	7167	TPI1	OMIM:615512
HP:0012795	Abnormal optic disc morphology	4598	MVK	OMIM:260920
HP:0012795	Abnormal optic disc morphology	4598	MVK	OMIM:610377
HP:0012795	Abnormal optic disc morphology	83700	JAM3	OMIM:613730
HP:0012795	Abnormal optic disc morphology	56623	INPP5E	OMIM:213300
HP:0012795	Abnormal optic disc morphology	4125	MAN2B1	ORPHA:309282
HP:0012795	Abnormal optic disc morphology	4125	MAN2B1	ORPHA:309288
HP:0012795	Abnormal optic disc morphology	1349	COX7B	OMIM:300887
HP:0012795	Abnormal optic disc morphology	6809	STX3	OMIM:619446
HP:0012795	Abnormal optic disc morphology	83715	ESPN	OMIM:618632
HP:0012795	Abnormal optic disc morphology	6392	SDHD	OMIM:619167
HP:0012795	Abnormal optic disc morphology	84816	RTN4IP1	OMIM:616732
HP:0012795	Abnormal optic disc morphology	5010	CLDN11	OMIM:619328
HP:0012795	Abnormal optic disc morphology	9179	AP4M1	OMIM:612936
HP:0012795	Abnormal optic disc morphology	3105	HLA-A	ORPHA:179
HP:0012795	Abnormal optic disc morphology	4718	NDUFC2	OMIM:619170
HP:0012795	Abnormal optic disc morphology	84340	GFM2	ORPHA:565624
HP:0012795	Abnormal optic disc morphology	64834	ELOVL1	OMIM:618527
HP:0012795	Abnormal optic disc morphology	9692	PRORP	OMIM:619737
HP:0012795	Abnormal optic disc morphology	23761	PISD	OMIM:618889
HP:0012795	Abnormal optic disc morphology	9445	ITM2B	OMIM:616079
HP:0012795	Abnormal optic disc morphology	23327	NEDD4L	OMIM:617201
HP:0012795	Abnormal optic disc morphology	8550	MAPKAPK5	OMIM:619869
HP:0012795	Abnormal optic disc morphology	54664	TMEM106B	OMIM:617964
HP:0012795	Abnormal optic disc morphology	55154	MSTO1	ORPHA:502423
HP:0012795	Abnormal optic disc morphology	7840	ALMS1	ORPHA:64
HP:0012795	Abnormal optic disc morphology	149371	EXOC8	OMIM:619076
HP:0012795	Abnormal optic disc morphology	1861	TOR1A	OMIM:618947
HP:0012795	Abnormal optic disc morphology	3035	HARS1	OMIM:614504
HP:0012795	Abnormal optic disc morphology	90624	LYRM7	OMIM:615838
HP:0012795	Abnormal optic disc morphology	84839	RAX2	OMIM:620102
HP:0012795	Abnormal optic disc morphology	25914	RTTN	ORPHA:468631
HP:0012795	Abnormal optic disc morphology	1859	DYRK1A	ORPHA:464311
HP:0012795	Abnormal optic disc morphology	30813	VSX1	OMIM:614195
HP:0012795	Abnormal optic disc morphology	1615	DARS1	OMIM:615281
HP:0012795	Abnormal optic disc morphology	55617	TASP1	OMIM:618950
HP:0012795	Abnormal optic disc morphology	200894	ARL13B	OMIM:612291
HP:0012795	Abnormal optic disc morphology	388552	BLOC1S3	OMIM:614077
HP:0012795	Abnormal optic disc morphology	3187	HNRNPH1	OMIM:620083
HP:0012795	Abnormal optic disc morphology	3798	KIF5A	OMIM:617235
HP:0012795	Abnormal optic disc morphology	112752	IFT43	OMIM:617871
HP:0012795	Abnormal optic disc morphology	282809	POC1B	OMIM:615973
HP:0012795	Abnormal optic disc morphology	2779	GNAT1	OMIM:616389
HP:0012795	Abnormal optic disc morphology	2055	CLN8	ORPHA:1947
HP:0012795	Abnormal optic disc morphology	23155	CLCC1	OMIM:609913
HP:0012795	Abnormal optic disc morphology	9699	RIMS2	OMIM:618970
HP:0012795	Abnormal optic disc morphology	55181	SMG8	OMIM:619268
HP:0012795	Abnormal optic disc morphology	27072	VPS41	OMIM:619389
HP:0012795	Abnormal optic disc morphology	55331	ACER3	OMIM:617762
HP:0012795	Abnormal optic disc morphology	9181	ARHGEF2	OMIM:617523
HP:0012795	Abnormal optic disc morphology	51095	TRNT1	OMIM:616959
HP:0012795	Abnormal optic disc morphology	3476	IGBP1	OMIM:300472
HP:0012795	Abnormal optic disc morphology	3476	IGBP1	ORPHA:52055
HP:0012795	Abnormal optic disc morphology	4072	EPCAM	ORPHA:92050
HP:0012795	Abnormal optic disc morphology	105371045	PERCC1	ORPHA:92050
HP:0012795	Abnormal optic disc morphology	8260	NAA10	OMIM:309800
HP:0012795	Abnormal optic disc morphology	8260	NAA10	ORPHA:568
HP:0012795	Abnormal optic disc morphology	54880	BCOR	OMIM:309800
HP:0012795	Abnormal optic disc morphology	54880	BCOR	ORPHA:568
HP:0012795	Abnormal optic disc morphology	54496	PRMT7	OMIM:617157
HP:0012795	Abnormal optic disc morphology	1663	DDX11	OMIM:613398
HP:0012795	Abnormal optic disc morphology	55733	HHAT	OMIM:600092
HP:0012795	Abnormal optic disc morphology	8085	KMT2D	OMIM:620186
HP:0012795	Abnormal optic disc morphology	5076	PAX2	OMIM:120330
HP:0012795	Abnormal optic disc morphology	5076	PAX2	ORPHA:1475
HP:0012795	Abnormal optic disc morphology	71	ACTG1	ORPHA:2995
HP:0012795	Abnormal optic disc morphology	60	ACTB	ORPHA:2995
HP:0012795	Abnormal optic disc morphology	10653	SPINT2	OMIM:270420
HP:0012795	Abnormal optic disc morphology	8295	TRRAP	OMIM:618454
HP:0012795	Abnormal optic disc morphology	83479	DDX59	OMIM:174300
HP:0012795	Abnormal optic disc morphology	57167	SALL4	ORPHA:959
HP:0012795	Abnormal optic disc morphology	26005	C2CD3	OMIM:615948
HP:0012795	Abnormal optic disc morphology	6297	SALL2	OMIM:216820
HP:0012795	Abnormal optic disc morphology	26191	PTPN22	ORPHA:397
HP:0012795	Abnormal optic disc morphology	3106	HLA-B	ORPHA:397
HP:0012795	Abnormal optic disc morphology	3123	HLA-DRB1	ORPHA:397
HP:0012795	Abnormal optic disc morphology	8974	P4HA2	ORPHA:397
HP:0012795	Abnormal optic disc morphology	875	CBS	ORPHA:394
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:272
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:588
HP:0012795	Abnormal optic disc morphology	2218	FKTN	OMIM:236670
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:899
HP:0012795	Abnormal optic disc morphology	2218	FKTN	OMIM:253800
HP:0012795	Abnormal optic disc morphology	4524	MTHFR	ORPHA:395
HP:0012795	Abnormal optic disc morphology	55703	POLR3B	OMIM:614381
HP:0012795	Abnormal optic disc morphology	55703	POLR3B	OMIM:607694
HP:0012795	Abnormal optic disc morphology	10617	STAMBP	OMIM:614261
HP:0012795	Abnormal optic disc morphology	51256	TBC1D7	OMIM:248000
HP:0012795	Abnormal optic disc morphology	55823	VPS11	OMIM:616683
HP:0012795	Abnormal optic disc morphology	55823	VPS11	ORPHA:466934
HP:0012795	Abnormal optic disc morphology	23446	SLC44A1	OMIM:618868
HP:0012795	Abnormal optic disc morphology	8518	ELP1	ORPHA:1764
HP:0012795	Abnormal optic disc morphology	201595	STT3B	OMIM:615597
HP:0012795	Abnormal optic disc morphology	201595	STT3B	ORPHA:370924
HP:0012795	Abnormal optic disc morphology	4897	NRCAM	OMIM:619833
HP:0012795	Abnormal optic disc morphology	2720	GLB1	OMIM:230600
HP:0012795	Abnormal optic disc morphology	84334	COA8	ORPHA:436271
HP:0012795	Abnormal optic disc morphology	1786	DNMT1	ORPHA:314404
HP:0012795	Abnormal optic disc morphology	1786	DNMT1	OMIM:604121
HP:0012795	Abnormal optic disc morphology	755	CFAP410	OMIM:602271
HP:0012795	Abnormal optic disc morphology	84942	WDR73	OMIM:251300
HP:0012795	Abnormal optic disc morphology	84942	WDR73	ORPHA:83472
HP:0012795	Abnormal optic disc morphology	1736	DKC1	OMIM:305000
HP:0012795	Abnormal optic disc morphology	51	ACOX1	ORPHA:2971
HP:0012795	Abnormal optic disc morphology	51	ACOX1	OMIM:264470
HP:0012795	Abnormal optic disc morphology	1161	ERCC8	ORPHA:90321
HP:0012795	Abnormal optic disc morphology	1161	ERCC8	OMIM:216400
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:90321
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	OMIM:610965
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	2074	ERCC6	ORPHA:90321
HP:0012795	Abnormal optic disc morphology	2074	ERCC6	OMIM:278800
HP:0012795	Abnormal optic disc morphology	2074	ERCC6	OMIM:133540
HP:0012795	Abnormal optic disc morphology	2074	ERCC6	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	6687	SPG7	ORPHA:99013
HP:0012795	Abnormal optic disc morphology	6687	SPG7	OMIM:607259
HP:0012795	Abnormal optic disc morphology	5631	PRPS1	ORPHA:99014
HP:0012795	Abnormal optic disc morphology	5631	PRPS1	OMIM:301835
HP:0012795	Abnormal optic disc morphology	5631	PRPS1	ORPHA:1187
HP:0012795	Abnormal optic disc morphology	5631	PRPS1	OMIM:311070
HP:0012795	Abnormal optic disc morphology	5354	PLP1	ORPHA:99015
HP:0012795	Abnormal optic disc morphology	5354	PLP1	ORPHA:280234
HP:0012795	Abnormal optic disc morphology	5354	PLP1	OMIM:312080
HP:0012795	Abnormal optic disc morphology	5354	PLP1	OMIM:312920
HP:0012795	Abnormal optic disc morphology	57165	GJC2	OMIM:608804
HP:0012795	Abnormal optic disc morphology	4535	MT-ND1	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4535	MT-ND1	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4535	MT-ND1	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4535	MT-ND1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4536	MT-ND2	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4536	MT-ND2	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4536	MT-ND2	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4537	MT-ND3	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4578	MT-TW	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4578	MT-TW	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4577	MT-TV	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	ORPHA:320360
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4566	MT-TK	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4566	MT-TK	ORPHA:551
HP:0012795	Abnormal optic disc morphology	8566	PDXK	OMIM:618511
HP:0012795	Abnormal optic disc morphology	65993	MRPS34	OMIM:617664
HP:0012795	Abnormal optic disc morphology	6536	SLC6A9	OMIM:617301
HP:0012795	Abnormal optic disc morphology	51741	WWOX	OMIM:616211
HP:0012795	Abnormal optic disc morphology	51741	WWOX	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51741	WWOX	OMIM:614322
HP:0012795	Abnormal optic disc morphology	200205	IBA57	OMIM:616451
HP:0012795	Abnormal optic disc morphology	200205	IBA57	ORPHA:468661
HP:0012795	Abnormal optic disc morphology	200205	IBA57	OMIM:615330
HP:0012795	Abnormal optic disc morphology	26504	CNNM4	ORPHA:1873
HP:0012795	Abnormal optic disc morphology	79639	TMEM53	OMIM:619727
HP:0012795	Abnormal optic disc morphology	65082	VPS33A	OMIM:617303
HP:0012795	Abnormal optic disc morphology	65082	VPS33A	ORPHA:505248
HP:0012795	Abnormal optic disc morphology	10730	YME1L1	OMIM:617302
HP:0012795	Abnormal optic disc morphology	55768	NGLY1	ORPHA:404454
HP:0012795	Abnormal optic disc morphology	55636	CHD7	ORPHA:138
HP:0012795	Abnormal optic disc morphology	9723	SEMA3E	ORPHA:138
HP:0012795	Abnormal optic disc morphology	6660	SOX5	ORPHA:313892
HP:0012795	Abnormal optic disc morphology	6660	SOX5	OMIM:616803
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309271
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309263
HP:0012795	Abnormal optic disc morphology	410	ARSA	OMIM:250100
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309256
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309271
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309263
HP:0012795	Abnormal optic disc morphology	5660	PSAP	OMIM:611721
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309256
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:206436
HP:0012795	Abnormal optic disc morphology	7345	UCHL1	OMIM:615491
HP:0012795	Abnormal optic disc morphology	7345	UCHL1	OMIM:620221
HP:0012795	Abnormal optic disc morphology	284058	KANSL1	ORPHA:363958
HP:0012795	Abnormal optic disc morphology	284058	KANSL1	ORPHA:363965
HP:0012795	Abnormal optic disc morphology	5105	PCK1	OMIM:261680
HP:0012795	Abnormal optic disc morphology	7994	KAT6A	ORPHA:457193
HP:0012795	Abnormal optic disc morphology	7994	KAT6A	OMIM:616268
HP:0012795	Abnormal optic disc morphology	9326	ZNHIT3	ORPHA:2836
HP:0012795	Abnormal optic disc morphology	9326	ZNHIT3	OMIM:260565
HP:0012795	Abnormal optic disc morphology	547	KIF1A	ORPHA:2836
HP:0012795	Abnormal optic disc morphology	547	KIF1A	OMIM:614255
HP:0012795	Abnormal optic disc morphology	55681	SCYL2	OMIM:618766
HP:0012795	Abnormal optic disc morphology	85465	SELENOI	OMIM:618768
HP:0012795	Abnormal optic disc morphology	2697	GJA1	ORPHA:2710
HP:0012795	Abnormal optic disc morphology	2697	GJA1	OMIM:218400
HP:0012795	Abnormal optic disc morphology	157680	VPS13B	OMIM:216550
HP:0012795	Abnormal optic disc morphology	157680	VPS13B	ORPHA:193
HP:0012795	Abnormal optic disc morphology	9401	RECQL4	OMIM:218600
HP:0012795	Abnormal optic disc morphology	55149	MTPAP	ORPHA:254343
HP:0012795	Abnormal optic disc morphology	55149	MTPAP	OMIM:613672
HP:0012795	Abnormal optic disc morphology	171023	ASXL1	ORPHA:97297
HP:0012795	Abnormal optic disc morphology	10484	SEC23A	OMIM:607812
HP:0012795	Abnormal optic disc morphology	10815	CPLX1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	54872	PIGG	ORPHA:280
HP:0012795	Abnormal optic disc morphology	7469	NELFA	ORPHA:280
HP:0012795	Abnormal optic disc morphology	1487	CTBP1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	3954	LETM1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	3954	LETM1	OMIM:620089
HP:0012795	Abnormal optic disc morphology	7468	NSD2	ORPHA:280
HP:0012795	Abnormal optic disc morphology	22872	SEC31A	OMIM:618651
HP:0012795	Abnormal optic disc morphology	83636	C19orf12	OMIM:614298
HP:0012795	Abnormal optic disc morphology	83636	C19orf12	OMIM:615043
HP:0012795	Abnormal optic disc morphology	5833	PCYT2	OMIM:618770
HP:0012795	Abnormal optic disc morphology	7466	WFS1	OMIM:614296
HP:0012795	Abnormal optic disc morphology	7466	WFS1	OMIM:222300
HP:0012795	Abnormal optic disc morphology	7466	WFS1	ORPHA:3463
HP:0012795	Abnormal optic disc morphology	7466	WFS1	ORPHA:411590
HP:0012795	Abnormal optic disc morphology	388962	BOLA3	OMIM:614299
HP:0012795	Abnormal optic disc morphology	1201	CLN3	OMIM:204200
HP:0012795	Abnormal optic disc morphology	1201	CLN3	ORPHA:228346
HP:0012795	Abnormal optic disc morphology	284184	NDUFAF8	OMIM:618776
HP:0012795	Abnormal optic disc morphology	79731	NARS2	OMIM:616239
HP:0012795	Abnormal optic disc morphology	89910	UBE3B	ORPHA:2707
HP:0012795	Abnormal optic disc morphology	3737	KCNA2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1759	DNM1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1759	DNM1	OMIM:620352
HP:0012795	Abnormal optic disc morphology	8120	AP3B2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	523	ATP6V1A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	523	ATP6V1A	OMIM:618012
HP:0012795	Abnormal optic disc morphology	10991	SLC38A3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51343	FZR1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	22906	TRAK1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2566	GABRG2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1917	EEF1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2561	GABRB2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	8831	SYNGAP1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	7532	YWHAG	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	79876	UBA5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6328	SCN3A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2558	GABRA5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	781	CACNA2D1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2906	GRIN2D	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	116150	NUS1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	10659	CELF2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	774	CACNA1B	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1213	CLTC	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	23334	SZT2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51412	ACTL6B	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	348980	HCN1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6506	SLC1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	8867	SYNJ1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2258	FGF13	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	477	ATP1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	3745	KCNB1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	284111	SLC13A5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	25977	NECAP1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	16	AARS1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6334	SCN8A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	22866	CNKSR2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	9568	GABBR2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2555	GABRA2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	55152	DALRD3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	773	CACNA1A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	26999	CYFIP2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	4915	NTRK2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	4915	NTRK2	OMIM:617830
HP:0012795	Abnormal optic disc morphology	25973	PARS2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	25973	PARS2	OMIM:618437
HP:0012795	Abnormal optic disc morphology	23097	CDK19	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	64801	ARV1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	79947	DHDDS	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	79947	DHDDS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	2257	FGF12	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	5530	PPP3CA	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	OMIM:601338
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	ORPHA:1171
HP:0012795	Abnormal optic disc morphology	6905	TBCE	OMIM:617207
HP:0012795	Abnormal optic disc morphology	6905	TBCE	ORPHA:496756
HP:0012795	Abnormal optic disc morphology	9927	MFN2	OMIM:601152
HP:0012795	Abnormal optic disc morphology	9927	MFN2	OMIM:609260
HP:0012795	Abnormal optic disc morphology	9927	MFN2	OMIM:617087
HP:0012795	Abnormal optic disc morphology	9927	MFN2	ORPHA:99947
HP:0012795	Abnormal optic disc morphology	8241	RBM10	OMIM:311900
HP:0012795	Abnormal optic disc morphology	8241	RBM10	ORPHA:2886
HP:0012795	Abnormal optic disc morphology	25794	FSCN2	OMIM:607921
HP:0012795	Abnormal optic disc morphology	25794	FSCN2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	1182	CLCN3	OMIM:619512
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	OMIM:615035
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	ORPHA:320375
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	ORPHA:254930
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	OMIM:613559
HP:0012795	Abnormal optic disc morphology	27125	AFF4	OMIM:616368
HP:0012795	Abnormal optic disc morphology	92609	TIMM50	OMIM:617698
HP:0012795	Abnormal optic disc morphology	92609	TIMM50	ORPHA:505216
HP:0012795	Abnormal optic disc morphology	51692	CPSF3	OMIM:619876
HP:0012795	Abnormal optic disc morphology	3098	HK1	OMIM:618547
HP:0012795	Abnormal optic disc morphology	150468	CKAP2L	OMIM:272440
HP:0012795	Abnormal optic disc morphology	150468	CKAP2L	ORPHA:3255
HP:0012795	Abnormal optic disc morphology	5590	PRKCZ	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	2563	GABRD	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	23013	SPEN	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	8510	MMP23B	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	7798	LUZP1	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	6497	SKI	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	10630	PDPN	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	3339	HSPG2	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	10277	UBE4B	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	8514	KCNAB2	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	473	RERE	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	473	RERE	ORPHA:494344
HP:0012795	Abnormal optic disc morphology	473	RERE	OMIM:616975
HP:0012795	Abnormal optic disc morphology	63976	PRDM16	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	54897	CASZ1	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	84277	DNAJC30	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	OMIM:618228
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	ORPHA:70474
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4512	MT-CO1	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4512	MT-CO1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	ORPHA:137675
HP:0012795	Abnormal optic disc morphology	4539	MT-ND4L	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4539	MT-ND4L	OMIM:535000
HP:0012795	Abnormal optic disc morphology	148789	B3GALNT2	ORPHA:588
HP:0012795	Abnormal optic disc morphology	148789	B3GALNT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	29925	GMPPB	ORPHA:588
HP:0012795	Abnormal optic disc morphology	29925	GMPPB	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:588
HP:0012795	Abnormal optic disc morphology	79147	FKRP	OMIM:236670
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:899
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	ORPHA:588
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	OMIM:236670
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	OMIM:613154
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:588
HP:0012795	Abnormal optic disc morphology	29954	POMT2	OMIM:236670
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:588
HP:0012795	Abnormal optic disc morphology	10585	POMT1	OMIM:236670
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	285362	SUMF1	ORPHA:585
HP:0012795	Abnormal optic disc morphology	55210	ATAD3A	ORPHA:496790
HP:0012795	Abnormal optic disc morphology	55210	ATAD3A	OMIM:617183
HP:0012795	Abnormal optic disc morphology	4644	MYO5A	ORPHA:33445
HP:0012795	Abnormal optic disc morphology	8818	DPM2	OMIM:615042
HP:0012795	Abnormal optic disc morphology	8818	DPM2	ORPHA:329178
HP:0012795	Abnormal optic disc morphology	122961	ISCA2	OMIM:616370
HP:0012795	Abnormal optic disc morphology	8733	GPAA1	ORPHA:529665
HP:0012795	Abnormal optic disc morphology	8733	GPAA1	OMIM:617810
HP:0012795	Abnormal optic disc morphology	2232	FDXR	ORPHA:543470
HP:0012795	Abnormal optic disc morphology	2232	FDXR	OMIM:617717
HP:0012795	Abnormal optic disc morphology	4849	CNOT3	OMIM:618672
HP:0012795	Abnormal optic disc morphology	56947	MFF	ORPHA:485421
HP:0012795	Abnormal optic disc morphology	56947	MFF	OMIM:617086
HP:0012795	Abnormal optic disc morphology	4982	TNFRSF11B	ORPHA:2801
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	ORPHA:2801
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	OMIM:612301
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	ORPHA:1782
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	OMIM:123790
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	OMIM:123500
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:207
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:87
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:1555
HP:0012795	Abnormal optic disc morphology	9562	MINPP1	OMIM:619527
HP:0012795	Abnormal optic disc morphology	9562	MINPP1	ORPHA:284339
HP:0012795	Abnormal optic disc morphology	256471	MFSD8	OMIM:610951
HP:0012795	Abnormal optic disc morphology	7841	MOGS	ORPHA:79330
HP:0012795	Abnormal optic disc morphology	7841	MOGS	OMIM:606056
HP:0012795	Abnormal optic disc morphology	56652	TWNK	OMIM:271245
HP:0012795	Abnormal optic disc morphology	56652	TWNK	ORPHA:1186
HP:0012795	Abnormal optic disc morphology	2271	FH	OMIM:606812
HP:0012795	Abnormal optic disc morphology	5981	RFC1	ORPHA:504476
HP:0012795	Abnormal optic disc morphology	197258	FCSK	OMIM:618324
HP:0012795	Abnormal optic disc morphology	2395	FXN	OMIM:229300
HP:0012795	Abnormal optic disc morphology	2395	FXN	ORPHA:95
HP:0012795	Abnormal optic disc morphology	10463	SLC30A9	OMIM:617595
HP:0012795	Abnormal optic disc morphology	125988	MICOS13	OMIM:618329
HP:0012795	Abnormal optic disc morphology	84168	ANTXR1	OMIM:230740
HP:0012795	Abnormal optic disc morphology	84168	ANTXR1	ORPHA:2067
HP:0012795	Abnormal optic disc morphology	25836	NIPBL	OMIM:122470
HP:0012795	Abnormal optic disc morphology	9725	TMEM63A	OMIM:618688
HP:0012795	Abnormal optic disc morphology	8813	DPM1	ORPHA:79322
HP:0012795	Abnormal optic disc morphology	8813	DPM1	OMIM:608799
HP:0012795	Abnormal optic disc morphology	9526	MPDU1	ORPHA:79323
HP:0012795	Abnormal optic disc morphology	9526	MPDU1	OMIM:609180
HP:0012795	Abnormal optic disc morphology	79053	ALG8	ORPHA:79325
HP:0012795	Abnormal optic disc morphology	57192	MCOLN1	OMIM:252650
HP:0012795	Abnormal optic disc morphology	1967	EIF2B1	OMIM:603896
HP:0012795	Abnormal optic disc morphology	10195	ALG3	OMIM:601110
HP:0012795	Abnormal optic disc morphology	10533	ATG7	OMIM:619422
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	OMIM:619303
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	OMIM:616505
HP:0012795	Abnormal optic disc morphology	58497	PRUNE1	OMIM:617481
HP:0012795	Abnormal optic disc morphology	58497	PRUNE1	ORPHA:544469
HP:0012795	Abnormal optic disc morphology	55656	INTS8	OMIM:618572
HP:0012795	Abnormal optic disc morphology	11232	POLG2	OMIM:619425
HP:0012795	Abnormal optic disc morphology	8905	AP1S2	OMIM:304340
HP:0012795	Abnormal optic disc morphology	4594	MMUT	ORPHA:79312
HP:0012795	Abnormal optic disc morphology	4594	MMUT	ORPHA:289916
HP:0012795	Abnormal optic disc morphology	7291	TWIST1	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2261	FGFR3	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2261	FGFR3	ORPHA:93262
HP:0012795	Abnormal optic disc morphology	4558	MT-TF	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4558	MT-TF	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4549	MT-RNR1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	OMIM:220110
HP:0012795	Abnormal optic disc morphology	4575	MT-TS2	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4575	MT-TS2	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4571	MT-TP	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4572	MT-TQ	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4572	MT-TQ	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4564	MT-TH	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4564	MT-TH	ORPHA:550
HP:0012795	Abnormal optic disc morphology	3912	LAMB1	OMIM:615191
HP:0012795	Abnormal optic disc morphology	3912	LAMB1	ORPHA:352682
HP:0012795	Abnormal optic disc morphology	4513	MT-CO2	ORPHA:550
HP:0012795	Abnormal optic disc morphology	92840	REEP6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6094	ROM1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6017	RLBP1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7401	CLRN1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24	ABCA4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	130557	ZNF513	ORPHA:791
HP:0012795	Abnormal optic disc morphology	582	BBS1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	92211	CDHR1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23568	ARL2BP	ORPHA:791
HP:0012795	Abnormal optic disc morphology	54806	AHI1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6101	RP1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	3419	IDH3A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	4751	NEK2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	346007	EYS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8100	IFT88	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23020	SNRNP200	ORPHA:791
HP:0012795	Abnormal optic disc morphology	762	CA4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	196	AHR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	123016	TTC8	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6103	RPGR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5148	PDE6G	ORPHA:791
HP:0012795	Abnormal optic disc morphology	26121	PRPF31	ORPHA:791
HP:0012795	Abnormal optic disc morphology	583	BBS2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	4117	MAK	ORPHA:791
HP:0012795	Abnormal optic disc morphology	375298	CERKL	ORPHA:791
HP:0012795	Abnormal optic disc morphology	3420	IDH3B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	57670	KIAA1549	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24148	PRPF6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10461	MERTK	ORPHA:791
HP:0012795	Abnormal optic disc morphology	57709	SLC7A14	ORPHA:791
HP:0012795	Abnormal optic disc morphology	768206	PRCD	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7399	USH2A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23370	ARHGEF18	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5949	RBP3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6010	RHO	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6100	RP9	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10002	NR2E3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	84140	FAM161A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	403	ARL3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5145	PDE6A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10210	TOPORS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8842	PROM1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9128	PRPF4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	50939	IMPG2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8481	OFD1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	2979	GUCA1B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	1259	CNGA1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	1258	CNGB1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	60509	AGBL5	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5961	PRPH2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	388939	PCARE	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7439	BEST1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9785	DHX38	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5995	RGR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9129	PRPF3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	3617	IMPG1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	94137	RP1L1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5158	PDE6B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6102	RP2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	55857	KIZ	ORPHA:791
HP:0012795	Abnormal optic disc morphology	64218	SEMA4A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	4901	NRL	ORPHA:791
HP:0012795	Abnormal optic disc morphology	157657	CFAP418	ORPHA:791
HP:0012795	Abnormal optic disc morphology	84100	ARL6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6295	SAG	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10785	WDR4	OMIM:618346
HP:0012795	Abnormal optic disc morphology	50	ACO2	OMIM:616289
HP:0012795	Abnormal optic disc morphology	50	ACO2	OMIM:614559
HP:0012795	Abnormal optic disc morphology	160418	TMTC3	OMIM:617255
HP:0012795	Abnormal optic disc morphology	51728	POLR3K	OMIM:619310
HP:0012795	Abnormal optic disc morphology	4719	NDUFS1	OMIM:618226
HP:0012795	Abnormal optic disc morphology	4719	NDUFS1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4729	NDUFV2	OMIM:618229
HP:0012795	Abnormal optic disc morphology	4729	NDUFV2	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	2767	GNA11	ORPHA:428
HP:0012795	Abnormal optic disc morphology	846	CASR	ORPHA:428
HP:0012795	Abnormal optic disc morphology	23345	SYNE1	OMIM:610743
HP:0012795	Abnormal optic disc morphology	5428	POLG	OMIM:258450
HP:0012795	Abnormal optic disc morphology	5428	POLG	ORPHA:254886
HP:0012795	Abnormal optic disc morphology	10102	TSFM	OMIM:610505
HP:0012795	Abnormal optic disc morphology	128869	PIGU	OMIM:618590
HP:0012795	Abnormal optic disc morphology	10733	PLK4	OMIM:616171
HP:0012795	Abnormal optic disc morphology	10733	PLK4	ORPHA:2518
HP:0012795	Abnormal optic disc morphology	29887	SNX10	OMIM:615085
HP:0012795	Abnormal optic disc morphology	91942	NDUFAF2	OMIM:618233
HP:0012795	Abnormal optic disc morphology	91942	NDUFAF2	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	7084	TK2	ORPHA:254886
HP:0012795	Abnormal optic disc morphology	81790	RNF170	OMIM:619686
HP:0012795	Abnormal optic disc morphology	23102	TBC1D2B	OMIM:619323
HP:0012795	Abnormal optic disc morphology	1436	CSF1R	OMIM:618476
HP:0012795	Abnormal optic disc morphology	26610	ELP4	OMIM:617141
HP:0012795	Abnormal optic disc morphology	79868	ALG13	OMIM:300884
HP:0012795	Abnormal optic disc morphology	126328	NDUFA11	OMIM:618236
HP:0012795	Abnormal optic disc morphology	6651	SON	OMIM:617140
HP:0012795	Abnormal optic disc morphology	6651	SON	ORPHA:500150
HP:0012795	Abnormal optic disc morphology	10978	CLP1	ORPHA:411493
HP:0012795	Abnormal optic disc morphology	9342	SNAP29	ORPHA:66631
HP:0012795	Abnormal optic disc morphology	8882	ZPR1	OMIM:619321
HP:0012795	Abnormal optic disc morphology	29078	NDUFAF4	OMIM:618237
HP:0012795	Abnormal optic disc morphology	79133	NDUFAF5	OMIM:618238
HP:0012795	Abnormal optic disc morphology	79133	NDUFAF5	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	7248	TSC1	ORPHA:538
HP:0012795	Abnormal optic disc morphology	7249	TSC2	ORPHA:538
HP:0012795	Abnormal optic disc morphology	11152	WDR45	ORPHA:329284
HP:0012795	Abnormal optic disc morphology	443	ASPA	ORPHA:314911
HP:0012795	Abnormal optic disc morphology	443	ASPA	OMIM:271900
HP:0012795	Abnormal optic disc morphology	154881	KCTD7	OMIM:611726
HP:0012795	Abnormal optic disc morphology	154881	KCTD7	ORPHA:263516
HP:0012795	Abnormal optic disc morphology	84892	POMGNT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	729920	CRPPA	ORPHA:899
HP:0012795	Abnormal optic disc morphology	10329	RXYLT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	1605	DAG1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	11041	B4GAT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	84197	POMK	ORPHA:899
HP:0012795	Abnormal optic disc morphology	84197	POMK	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	79944	L2HGDH	OMIM:236792
HP:0012795	Abnormal optic disc morphology	8869	ST3GAL5	OMIM:609056
HP:0012795	Abnormal optic disc morphology	6904	TBCD	ORPHA:496641
HP:0012795	Abnormal optic disc morphology	6904	TBCD	OMIM:617193
HP:0012795	Abnormal optic disc morphology	5934	RBL2	OMIM:619690
HP:0012795	Abnormal optic disc morphology	56915	EXOSC5	OMIM:619576
HP:0012795	Abnormal optic disc morphology	22930	RAB3GAP1	OMIM:600118
HP:0012795	Abnormal optic disc morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	55572	FOXRED1	OMIM:618241
HP:0012795	Abnormal optic disc morphology	55572	FOXRED1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	123263	MTFMT	OMIM:618248
HP:0012795	Abnormal optic disc morphology	123263	MTFMT	OMIM:614947
HP:0012795	Abnormal optic disc morphology	123263	MTFMT	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	51079	NDUFA13	OMIM:618249
HP:0012795	Abnormal optic disc morphology	51079	NDUFA13	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	2077	ERF	ORPHA:207
HP:0012795	Abnormal optic disc morphology	549	AUH	OMIM:250950
HP:0012795	Abnormal optic disc morphology	1312	COMT	ORPHA:567
HP:0012795	Abnormal optic disc morphology	221037	JMJD1C	ORPHA:567
HP:0012795	Abnormal optic disc morphology	2812	GP1BB	ORPHA:567
HP:0012795	Abnormal optic disc morphology	6239	RREB1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	6899	TBX1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	7290	HIRA	ORPHA:567
HP:0012795	Abnormal optic disc morphology	9632	SEC24C	ORPHA:567
HP:0012795	Abnormal optic disc morphology	7353	UFD1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	421	ARVCF	ORPHA:567
HP:0012795	Abnormal optic disc morphology	2717	GLA	ORPHA:324
HP:0012795	Abnormal optic disc morphology	84314	TMEM107	ORPHA:564
HP:0012795	Abnormal optic disc morphology	26123	TCTN3	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79867	TCTN2	ORPHA:564
HP:0012795	Abnormal optic disc morphology	80776	B9D2	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79600	TCTN1	ORPHA:564
HP:0012795	Abnormal optic disc morphology	51259	TMEM216	ORPHA:564
HP:0012795	Abnormal optic disc morphology	57545	CC2D2A	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79583	TMEM231	ORPHA:564
HP:0012795	Abnormal optic disc morphology	91147	TMEM67	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79770	TXNDC15	ORPHA:564
HP:0012795	Abnormal optic disc morphology	27077	B9D1	ORPHA:564
HP:0012795	Abnormal optic disc morphology	23322	RPGRIP1L	ORPHA:564
HP:0012795	Abnormal optic disc morphology	54903	MKS1	ORPHA:564
HP:0012795	Abnormal optic disc morphology	65062	TMEM237	ORPHA:564
HP:0012795	Abnormal optic disc morphology	65062	TMEM237	OMIM:614424
HP:0012795	Abnormal optic disc morphology	112812	FDX2	OMIM:251900
HP:0012795	Abnormal optic disc morphology	51102	MECR	OMIM:617282
HP:0012795	Abnormal optic disc morphology	51102	MECR	ORPHA:508093
HP:0012795	Abnormal optic disc morphology	23258	DENND5A	OMIM:617281
HP:0012795	Abnormal optic disc morphology	4784	NFIX	ORPHA:561
HP:0012795	Abnormal optic disc morphology	9758	FRMPD4	OMIM:300983
HP:0012795	Abnormal optic disc morphology	54681	P4HTM	OMIM:618493
HP:0012795	Abnormal optic disc morphology	4700	NDUFA6	OMIM:618253
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	OMIM:610651
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	5573	PRKAR1A	OMIM:101800
HP:0012795	Abnormal optic disc morphology	64374	SIL1	ORPHA:559
HP:0012795	Abnormal optic disc morphology	51763	INPP5K	ORPHA:559
HP:0012795	Abnormal optic disc morphology	60386	SLC25A19	ORPHA:99742
HP:0012795	Abnormal optic disc morphology	60386	SLC25A19	OMIM:607196
HP:0012795	Abnormal optic disc morphology	28982	FLVCR1	OMIM:609033
HP:0012795	Abnormal optic disc morphology	3028	HSD17B10	ORPHA:391428
HP:0012795	Abnormal optic disc morphology	3028	HSD17B10	OMIM:300438
HP:0012795	Abnormal optic disc morphology	84065	TMEM222	OMIM:619470
HP:0012795	Abnormal optic disc morphology	29926	GMPPA	ORPHA:869
HP:0012795	Abnormal optic disc morphology	60684	TRAPPC11	ORPHA:869
HP:0012795	Abnormal optic disc morphology	8086	AAAS	ORPHA:869
HP:0012795	Abnormal optic disc morphology	8086	AAAS	OMIM:231550
HP:0012795	Abnormal optic disc morphology	526	ATP6V1B2	ORPHA:79500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	ORPHA:79500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	ORPHA:352596
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	OMIM:220500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	OMIM:615338
HP:0012795	Abnormal optic disc morphology	136647	MPLKIP	OMIM:234050
HP:0012795	Abnormal optic disc morphology	493856	CISD2	OMIM:604928
HP:0012795	Abnormal optic disc morphology	493856	CISD2	ORPHA:3463
HP:0012795	Abnormal optic disc morphology	22978	NT5C2	ORPHA:320396
HP:0012795	Abnormal optic disc morphology	22978	NT5C2	OMIM:613162
HP:0012795	Abnormal optic disc morphology	100147744	RNU7-1	OMIM:619487
HP:0012795	Abnormal optic disc morphology	5189	PEX1	OMIM:601539
HP:0012795	Abnormal optic disc morphology	5189	PEX1	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5189	PEX1	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5189	PEX1	ORPHA:912
HP:0012795	Abnormal optic disc morphology	51715	RAB23	OMIM:201000
HP:0012795	Abnormal optic disc morphology	79152	FA2H	ORPHA:171629
HP:0012795	Abnormal optic disc morphology	79152	FA2H	ORPHA:329308
HP:0012795	Abnormal optic disc morphology	79152	FA2H	OMIM:612319
HP:0012795	Abnormal optic disc morphology	9373	PLAA	ORPHA:521426
HP:0012795	Abnormal optic disc morphology	9373	PLAA	OMIM:617527
HP:0012795	Abnormal optic disc morphology	23516	SLC39A14	OMIM:144755
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:772
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:44
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5828	PEX2	OMIM:614866
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:912
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:772
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:44
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:912
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:772
HP:0012795	Abnormal optic disc morphology	9409	PEX16	OMIM:614877
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:44
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:95433
HP:0012795	Abnormal optic disc morphology	5190	PEX6	OMIM:614863
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:912
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:772
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:44
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:912
HP:0012795	Abnormal optic disc morphology	23636	NUP62	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	23636	NUP62	OMIM:271930
HP:0012795	Abnormal optic disc morphology	103	ADAR	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	6389	SDHA	OMIM:619259
HP:0012795	Abnormal optic disc morphology	6389	SDHA	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	6389	SDHA	OMIM:252011
HP:0012795	Abnormal optic disc morphology	4668	NAGA	OMIM:609241
HP:0012795	Abnormal optic disc morphology	4668	NAGA	ORPHA:79279
HP:0012795	Abnormal optic disc morphology	131118	DNAJC19	ORPHA:66634
HP:0012795	Abnormal optic disc morphology	131118	DNAJC19	OMIM:610198
HP:0012795	Abnormal optic disc morphology	51594	NBAS	OMIM:614800
HP:0012795	Abnormal optic disc morphology	11043	MID2	OMIM:300928
HP:0012795	Abnormal optic disc morphology	2581	GALC	ORPHA:206436
HP:0012795	Abnormal optic disc morphology	2581	GALC	OMIM:245200
HP:0012795	Abnormal optic disc morphology	84233	TMEM126A	OMIM:612989
HP:0012795	Abnormal optic disc morphology	9897	WASHC5	ORPHA:7
HP:0012795	Abnormal optic disc morphology	28952	CCDC22	ORPHA:7
HP:0012795	Abnormal optic disc morphology	1678	TIMM8A	ORPHA:52368
HP:0012795	Abnormal optic disc morphology	79644	SRD5A3	ORPHA:324737
HP:0012795	Abnormal optic disc morphology	79644	SRD5A3	OMIM:612379
HP:0012795	Abnormal optic disc morphology	129285	PPP1R21	OMIM:619383
HP:0012795	Abnormal optic disc morphology	114034	TOE1	ORPHA:284339
HP:0012795	Abnormal optic disc morphology	114034	TOE1	OMIM:614969
HP:0012795	Abnormal optic disc morphology	4038	LRP4	ORPHA:3152
HP:0012795	Abnormal optic disc morphology	1496	CTNNA2	OMIM:618174
HP:0012795	Abnormal optic disc morphology	27445	PCLO	OMIM:608027
HP:0012795	Abnormal optic disc morphology	8517	IKBKG	OMIM:308300
HP:0012795	Abnormal optic disc morphology	1462	VCAN	OMIM:143200
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	OMIM:610217
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	ORPHA:35069
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	OMIM:256600
HP:0012795	Abnormal optic disc morphology	10134	BCAP31	OMIM:300475
HP:0012795	Abnormal optic disc morphology	10134	BCAP31	ORPHA:369939
HP:0012795	Abnormal optic disc morphology	23769	FLRT1	ORPHA:320406
HP:0012795	Abnormal optic disc morphology	64837	KLC2	ORPHA:320406
HP:0012795	Abnormal optic disc morphology	64837	KLC2	OMIM:609541
HP:0012795	Abnormal optic disc morphology	4570	MT-TN	OMIM:220110
HP:0012795	Abnormal optic disc morphology	6834	SURF1	OMIM:220110
HP:0012795	Abnormal optic disc morphology	6834	SURF1	ORPHA:70474
HP:0012795	Abnormal optic disc morphology	6834	SURF1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	25821	MTO1	OMIM:614702
HP:0012795	Abnormal optic disc morphology	145173	B3GLCT	ORPHA:709
HP:0012795	Abnormal optic disc morphology	2896	GRN	OMIM:614706
HP:0012795	Abnormal optic disc morphology	80207	OPA3	OMIM:165300
HP:0012795	Abnormal optic disc morphology	80207	OPA3	OMIM:258501
HP:0012795	Abnormal optic disc morphology	80207	OPA3	ORPHA:67036
HP:0012795	Abnormal optic disc morphology	4758	NEU1	ORPHA:93399
HP:0012795	Abnormal optic disc morphology	4758	NEU1	ORPHA:93400
HP:0012795	Abnormal optic disc morphology	79581	SLC52A2	OMIM:614707
HP:0012795	Abnormal optic disc morphology	23126	POGZ	ORPHA:468678
HP:0012795	Abnormal optic disc morphology	51218	GLRX5	ORPHA:401866
HP:0012795	Abnormal optic disc morphology	51218	GLRX5	OMIM:616859
HP:0012795	Abnormal optic disc morphology	374654	KIF7	OMIM:200990
HP:0012795	Abnormal optic disc morphology	170302	ARX	OMIM:300004
HP:0012795	Abnormal optic disc morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0012795	Abnormal optic disc morphology	9640	ZNF592	ORPHA:83472
HP:0012795	Abnormal optic disc morphology	1717	DHCR7	ORPHA:818
HP:0012795	Abnormal optic disc morphology	2475	MTOR	ORPHA:99802
HP:0012795	Abnormal optic disc morphology	10000	AKT3	ORPHA:99802
HP:0012795	Abnormal optic disc morphology	271	AMPD2	OMIM:615809
HP:0012795	Abnormal optic disc morphology	51204	TACO1	OMIM:619052
HP:0012795	Abnormal optic disc morphology	51204	TACO1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	55037	PTCD3	OMIM:619057
HP:0012795	Abnormal optic disc morphology	1757	SARDH	ORPHA:3129
HP:0012795	Abnormal optic disc morphology	1716	DGUOK	ORPHA:329314
HP:0012795	Abnormal optic disc morphology	55157	DARS2	ORPHA:137898
HP:0012795	Abnormal optic disc morphology	686	BTD	OMIM:253260
HP:0012795	Abnormal optic disc morphology	686	BTD	ORPHA:79241
HP:0012795	Abnormal optic disc morphology	546	ATRX	ORPHA:847
HP:0012795	Abnormal optic disc morphology	546	ATRX	OMIM:309580
HP:0012795	Abnormal optic disc morphology	10367	MICU1	ORPHA:401768
HP:0012795	Abnormal optic disc morphology	10367	MICU1	OMIM:615673
HP:0012795	Abnormal optic disc morphology	9839	ZEB2	ORPHA:261552
HP:0012795	Abnormal optic disc morphology	54476	RNF216	ORPHA:1173
HP:0012795	Abnormal optic disc morphology	10908	PNPLA6	ORPHA:1173
HP:0012795	Abnormal optic disc morphology	26090	ABHD12	OMIM:612674
HP:0012795	Abnormal optic disc morphology	10382	TUBB4A	OMIM:612438
HP:0012795	Abnormal optic disc morphology	84947	SERAC1	OMIM:614739
HP:0012795	Abnormal optic disc morphology	7025	NR2F1	ORPHA:401777
HP:0012795	Abnormal optic disc morphology	7025	NR2F1	OMIM:615722
HP:0012795	Abnormal optic disc morphology	1593	CYP27A1	ORPHA:909
HP:0012795	Abnormal optic disc morphology	11340	EXOSC8	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	5393	EXOSC9	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	23287	AGTPBP1	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	51010	EXOSC3	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	7443	VRK1	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	3748	KCNC3	ORPHA:98768
HP:0012795	Abnormal optic disc morphology	3748	KCNC3	OMIM:605259
HP:0012795	Abnormal optic disc morphology	80025	PANK2	OMIM:234200
HP:0012795	Abnormal optic disc morphology	80025	PANK2	ORPHA:216873
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	ORPHA:447896
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	ORPHA:3455
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	OMIM:607694
HP:0012795	Abnormal optic disc morphology	8050	PDHX	OMIM:245349
HP:0012795	Abnormal optic disc morphology	4256	MGP	ORPHA:85202
HP:0012795	Abnormal optic disc morphology	63895	PIEZO2	ORPHA:1154
HP:0012795	Abnormal optic disc morphology	25828	TXN2	OMIM:616811
HP:0012795	Abnormal optic disc morphology	471	ATIC	OMIM:608688
HP:0012795	Abnormal optic disc morphology	6742	SSBP1	OMIM:165510
HP:0012795	Abnormal optic disc morphology	23065	EMC1	ORPHA:480898
HP:0012795	Abnormal optic disc morphology	23065	EMC1	OMIM:616875
HP:0012795	Abnormal optic disc morphology	6310	ATXN1	ORPHA:98755
HP:0012795	Abnormal optic disc morphology	6310	ATXN1	OMIM:164400
HP:0012795	Abnormal optic disc morphology	8573	CASK	ORPHA:163937
HP:0012795	Abnormal optic disc morphology	50484	RRM2B	OMIM:268315
HP:0012795	Abnormal optic disc morphology	55275	VPS53	OMIM:615851
HP:0012795	Abnormal optic disc morphology	50628	GEMIN4	OMIM:617913
HP:0012795	Abnormal optic disc morphology	283989	TSEN54	OMIM:277470
HP:0012795	Abnormal optic disc morphology	81846	SBF2	ORPHA:99956
HP:0012795	Abnormal optic disc morphology	2776	GNAQ	ORPHA:3205
HP:0012795	Abnormal optic disc morphology	92154	MTSS2	OMIM:620086
HP:0012795	Abnormal optic disc morphology	28962	OSTM1	OMIM:259720
HP:0012795	Abnormal optic disc morphology	23590	PDSS1	OMIM:614651
HP:0012795	Abnormal optic disc morphology	79628	SH3TC2	ORPHA:99949
HP:0012795	Abnormal optic disc morphology	57724	EPG5	ORPHA:1493
HP:0012795	Abnormal optic disc morphology	9230	RAB11B	OMIM:617807
HP:0012795	Abnormal optic disc morphology	90417	KNSTRN	OMIM:613328
HP:0012795	Abnormal optic disc morphology	5293	PIK3CD	OMIM:613328
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	7507	XPA	ORPHA:910
HP:0012795	Abnormal optic disc morphology	7508	XPC	ORPHA:910
HP:0012795	Abnormal optic disc morphology	1643	DDB2	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	8600	TNFSF11	OMIM:259710
HP:0012795	Abnormal optic disc morphology	10075	HUWE1	OMIM:309590
HP:0012795	Abnormal optic disc morphology	53616	ADAM22	OMIM:617933
HP:0012795	Abnormal optic disc morphology	7473	WNT3	ORPHA:3301
HP:0012795	Abnormal optic disc morphology	340419	RSPO2	ORPHA:3301
HP:0012795	Abnormal optic disc morphology	1806	DPYD	OMIM:274270
HP:0012795	Abnormal optic disc morphology	998	CDC42	OMIM:616737
HP:0012795	Abnormal optic disc morphology	998	CDC42	ORPHA:487796
HP:0012795	Abnormal optic disc morphology	10413	YAP1	ORPHA:1473
HP:0012795	Abnormal optic disc morphology	10560	SLC19A2	ORPHA:49827
HP:0012795	Abnormal optic disc morphology	10560	SLC19A2	OMIM:249270
HP:0012795	Abnormal optic disc morphology	6314	ATXN7	OMIM:164500
HP:0012795	Abnormal optic disc morphology	10342	TFG	ORPHA:431329
HP:0012795	Abnormal optic disc morphology	10342	TFG	OMIM:615658
HP:0012795	Abnormal optic disc morphology	9512	PMPCB	OMIM:617954
HP:0012795	Abnormal optic disc morphology	2067	ERCC1	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	10352	WARS2	OMIM:617710
HP:0012795	Abnormal optic disc morphology	2058	EPRS1	OMIM:617951
HP:0012795	Abnormal optic disc morphology	54974	THG1L	OMIM:618800
HP:0012795	Abnormal optic disc morphology	5604	MAP2K1	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	5605	MAP2K2	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	3845	KRAS	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	259232	NALCN	OMIM:615419
HP:0012795	Abnormal optic disc morphology	128989	TANGO2	ORPHA:480864
HP:0012795	Abnormal optic disc morphology	128989	TANGO2	OMIM:616878
HP:0012795	Abnormal optic disc morphology	64093	SMOC1	ORPHA:1106
HP:0012795	Abnormal optic disc morphology	9420	CYP7B1	OMIM:270800
HP:0012795	Abnormal optic disc morphology	4007	PRICKLE3	OMIM:308905
HP:0012795	Abnormal optic disc morphology	57511	COG6	OMIM:614576
HP:0012795	Abnormal optic disc morphology	128637	TBC1D20	OMIM:615663
HP:0012795	Abnormal optic disc morphology	128637	TBC1D20	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	1729	DIAPH1	OMIM:616632
HP:0012795	Abnormal optic disc morphology	57572	DOCK6	OMIM:614219
HP:0012795	Abnormal optic disc morphology	760	CA2	ORPHA:2785
HP:0012795	Abnormal optic disc morphology	64840	PORCN	OMIM:305600
HP:0012795	Abnormal optic disc morphology	6197	RPS6KA3	ORPHA:192
HP:0012795	Abnormal optic disc morphology	51501	HIKESHI	OMIM:616881
HP:0012795	Abnormal optic disc morphology	25782	RAB3GAP2	OMIM:614225
HP:0012795	Abnormal optic disc morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	22931	RAB18	OMIM:614222
HP:0012795	Abnormal optic disc morphology	22931	RAB18	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	189	AGXT	OMIM:259900
HP:0012795	Abnormal optic disc morphology	22934	RPIA	OMIM:608611
HP:0012795	Abnormal optic disc morphology	7040	TGFB1	ORPHA:1328
HP:0012795	Abnormal optic disc morphology	25915	NDUFAF3	ORPHA:70474
HP:0012795	Abnormal optic disc morphology	4714	NDUFB8	ORPHA:70474
HP:0012795	Abnormal optic disc morphology	9997	SCO2	ORPHA:70474
HP:0012795	Abnormal optic disc morphology	6452	SH3BP2	ORPHA:184
HP:0012795	Abnormal optic disc morphology	51124	IER3IP1	OMIM:614231
HP:0012795	Abnormal optic disc morphology	51816	ADA2	OMIM:615688
HP:0012795	Abnormal optic disc morphology	3832	KIF11	ORPHA:2526
HP:0012795	Abnormal optic disc morphology	3832	KIF11	OMIM:152950
HP:0012795	Abnormal optic disc morphology	55704	CCDC88A	OMIM:617507
HP:0012795	Abnormal optic disc morphology	54676	GTPBP2	OMIM:617988
HP:0012795	Abnormal optic disc morphology	5456	POU3F4	ORPHA:1435
HP:0012795	Abnormal optic disc morphology	80704	SLC19A3	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4723	NDUFV1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	55967	NDUFA12	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4724	NDUFS4	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4728	NDUFS8	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	137682	NDUFAF6	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4722	NDUFS3	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	5160	PDHA1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	100131801	PET100	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	1355	COX15	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	1892	ECHS1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	374291	NDUFS7	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4705	NDUFA10	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	51601	LIPT1	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4695	NDUFA2	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4697	NDUFA4	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	4704	NDUFA9	ORPHA:255241
HP:0012795	Abnormal optic disc morphology	5538	PPT1	OMIM:256730
HP:0012795	Abnormal optic disc morphology	387	RHOA	OMIM:618727
HP:0012795	Abnormal optic disc morphology	55315	SLC29A3	ORPHA:1782
HP:0012795	Abnormal optic disc morphology	8777	MPDZ	OMIM:615219
HP:0012795	Abnormal optic disc morphology	25974	MMACHC	ORPHA:79282
HP:0012795	Abnormal optic disc morphology	85378	TUBGCP6	ORPHA:2518
HP:0012795	Abnormal optic disc morphology	27229	TUBGCP4	ORPHA:2518
HP:0012795	Abnormal optic disc morphology	57410	SCYL1	ORPHA:466794
HP:0012795	Abnormal optic disc morphology	35	ACADS	ORPHA:26792
HP:0012795	Abnormal optic disc morphology	80169	CTC1	OMIM:612199
HP:0012795	Abnormal optic disc morphology	10844	TUBGCP2	OMIM:618737
HP:0012795	Abnormal optic disc morphology	221927	BRAT1	OMIM:614498
HP:0012795	Abnormal optic disc morphology	55753	OGDHL	OMIM:619701
HP:0012795	Abnormal optic disc morphology	10939	AFG3L2	OMIM:618977
HP:0012795	Abnormal optic disc morphology	5297	PI4KA	OMIM:619708
HP:0012795	Abnormal optic disc morphology	50964	SOST	OMIM:269500
HP:0012795	Abnormal optic disc morphology	50964	SOST	OMIM:122860
HP:0012795	Abnormal optic disc morphology	7428	VHL	ORPHA:892
HP:0012795	Abnormal optic disc morphology	595	CCND1	ORPHA:892
HP:0012795	Abnormal optic disc morphology	26160	IFT172	OMIM:619471
HP:0012795	Abnormal optic disc morphology	2629	GBA1	ORPHA:2072
HP:0012795	Abnormal optic disc morphology	3423	IDS	OMIM:309900
HP:0012795	Abnormal optic disc morphology	3423	IDS	ORPHA:217085
HP:0012795	Abnormal optic disc morphology	3423	IDS	ORPHA:217093
HP:0012795	Abnormal optic disc morphology	3590	IL11RA	OMIM:614188
HP:0012795	Abnormal optic disc morphology	7157	TP53	OMIM:260500
HP:0012795	Abnormal optic disc morphology	324	APC	ORPHA:99818
HP:0012795	Abnormal optic disc morphology	8314	BAP1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	4771	NF2	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	6598	SMARCB1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	5155	PDGFB	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	84231	TRAF7	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	6608	SMO	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	207	AKT1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	5290	PIK3CA	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	7015	TERT	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	51684	SUFU	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	6605	SMARCE1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	63901	FAM111A	OMIM:127000
HP:0012795	Abnormal optic disc morphology	63901	FAM111A	ORPHA:93325
HP:0012795	Abnormal optic disc morphology	6522	SLC4A2	OMIM:620366
HP:0012795	Abnormal optic disc morphology	4313	MMP2	ORPHA:371428
HP:0012795	Abnormal optic disc morphology	4323	MMP14	ORPHA:371428
HP:0012795	Abnormal optic disc morphology	7386	UQCRFS1	OMIM:618775
HP:0012795	Abnormal optic disc morphology	114548	NLRP3	OMIM:607115
HP:0012795	Abnormal optic disc morphology	1499	CTNNB1	ORPHA:54595
HP:0012795	Abnormal optic disc morphology	673	BRAF	ORPHA:54595
HP:0012795	Abnormal optic disc morphology	10312	TCIRG1	ORPHA:210110
HP:0012795	Abnormal optic disc morphology	1186	CLCN7	ORPHA:210110
HP:0012795	Abnormal optic disc morphology	9842	PLEKHM1	ORPHA:210110
HP:0012795	Abnormal optic disc morphology	3000	GUCY2D	OMIM:204000
HP:0012795	Abnormal optic disc morphology	26022	TMEM98	OMIM:615972
HP:0012795	Abnormal optic disc morphology	9227	LRAT	ORPHA:364055
HP:0012795	Abnormal optic disc morphology	55812	SPATA7	ORPHA:364055
HP:0012795	Abnormal optic disc morphology	6121	RPE65	ORPHA:364055
HP:0012795	Abnormal optic disc morphology	167691	LCA5	ORPHA:364055
HP:0012795	Abnormal optic disc morphology	10594	PRPF8	OMIM:600059
HP:0012795	Abnormal optic disc morphology	64131	XYLT1	OMIM:264800
HP:0012795	Abnormal optic disc morphology	64132	XYLT2	OMIM:264800
HP:0012795	Abnormal optic disc morphology	368	ABCC6	OMIM:264800
HP:0012795	Abnormal optic disc morphology	83552	MFRP	OMIM:611040
HP:0012795	Abnormal optic disc morphology	4099	MAG	ORPHA:459056
HP:0012795	Abnormal optic disc morphology	10059	DNM1L	ORPHA:98673
HP:0012795	Abnormal optic disc morphology	4976	OPA1	ORPHA:98673
HP:0012795	Abnormal optic disc morphology	4976	OPA1	ORPHA:1215
HP:0012795	Abnormal optic disc morphology	1798	DPAGT1	ORPHA:86309
HP:0012795	Abnormal optic disc morphology	9786	KIAA0586	ORPHA:397715
HP:0012795	Abnormal optic disc morphology	22827	PUF60	ORPHA:508498
HP:0012795	Abnormal optic disc morphology	3769	KCNJ13	ORPHA:65
HP:0012795	Abnormal optic disc morphology	343035	RD3	ORPHA:65
HP:0012795	Abnormal optic disc morphology	145226	RDH12	ORPHA:65
HP:0012795	Abnormal optic disc morphology	1406	CRX	ORPHA:65
HP:0012795	Abnormal optic disc morphology	64802	NMNAT1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	57096	RPGRIP1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	80184	CEP290	ORPHA:65
HP:0012795	Abnormal optic disc morphology	9742	IFT140	ORPHA:65
HP:0012795	Abnormal optic disc morphology	85015	USP45	ORPHA:65
HP:0012795	Abnormal optic disc morphology	23418	CRB1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	5130	PCYT1A	ORPHA:65
HP:0012795	Abnormal optic disc morphology	9657	IQCB1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	392255	GDF6	ORPHA:65
HP:0012795	Abnormal optic disc morphology	23746	AIPL1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	3614	IMPDH1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	5718	PSMD12	OMIM:617516
HP:0012795	Abnormal optic disc morphology	4693	NDP	ORPHA:891
HP:0012795	Abnormal optic disc morphology	23554	TSPAN12	ORPHA:891
HP:0012795	Abnormal optic disc morphology	4041	LRP5	ORPHA:891
HP:0012795	Abnormal optic disc morphology	8322	FZD4	ORPHA:891
HP:0012795	Abnormal optic disc morphology	22856	CHSY1	ORPHA:363417
HP:0012795	Abnormal optic disc morphology	51112	TRAPPC12	ORPHA:500144
HP:0012795	Abnormal optic disc morphology	2202	EFEMP1	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	1545	CYP1B1	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	4653	MYOC	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	7010	TEK	OMIM:617272
HP:0012795	Abnormal optic disc morphology	1009	CDH11	OMIM:211380
HP:0012795	Abnormal optic disc morphology	80781	COL18A1	OMIM:618880
HP:0012795	Abnormal optic disc morphology	136371	ASB10	OMIM:603383
HP:0012795	Abnormal optic disc morphology	79848	CSPP1	OMIM:615636
HP:0012795	Abnormal optic disc morphology	49855	SCAPER	OMIM:618195
HP:0012795	Abnormal optic disc morphology	126792	B3GALT6	ORPHA:536467
HP:0012795	Abnormal optic disc morphology	114902	C1QTNF5	ORPHA:67042
HP:0012795	Abnormal optic disc morphology	7275	TUB	OMIM:616188
HP:0012795	Abnormal optic disc morphology	55624	POMGNT1	OMIM:617123
HP:0012795	Abnormal optic disc morphology	79797	ZNF408	OMIM:616469
HP:0012795	Abnormal optic disc morphology	138050	HGSNAT	OMIM:616544
HP:0012795	Abnormal optic disc morphology	4327	MMP19	OMIM:611543
HP:0012795	Abnormal optic disc morphology	10383	TUBB4B	OMIM:617879
HP:0012795	Abnormal optic disc morphology	1261	CNGA3	OMIM:216900
HP:0012795	Abnormal optic disc morphology	7287	TULP1	OMIM:613843
HP:0012795	Abnormal optic disc morphology	1282	COL4A1	OMIM:175780
HP:0012795	Abnormal optic disc morphology	55975	KLHL7	OMIM:612943
HP:0012796	Increased cup-to-disc ratio	51112	TRAPPC12	ORPHA:500144
HP:0012796	Increased cup-to-disc ratio	2202	EFEMP1	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	1545	CYP1B1	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	4653	MYOC	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	7010	TEK	OMIM:617272
HP:0012796	Increased cup-to-disc ratio	1009	CDH11	OMIM:211380
HP:0012796	Increased cup-to-disc ratio	80781	COL18A1	OMIM:618880
HP:0012796	Increased cup-to-disc ratio	136371	ASB10	OMIM:603383
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	OMIM:613254
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	ORPHA:538
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	OMIM:606690
HP:0012797	Lymphatic vessel neoplasm	3458	IFNG	OMIM:613254
HP:0012797	Lymphatic vessel neoplasm	3458	IFNG	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	OMIM:191100
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	ORPHA:538
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	OMIM:606690
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	OMIM:613254
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	ORPHA:538
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	OMIM:606690
HP:0012798	Pulmonary lymphangiomyomatosis	3458	IFNG	OMIM:613254
HP:0012798	Pulmonary lymphangiomyomatosis	3458	IFNG	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	OMIM:191100
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	ORPHA:538
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	OMIM:606690
HP:0012799	Unilateral facial palsy	11198	SUPT16H	OMIM:619480
HP:0012799	Unilateral facial palsy	7516	XRCC2	OMIM:617247
HP:0012799	Unilateral facial palsy	3098	HK1	OMIM:618547
HP:0012791	Abnormal humeral ossification	2317	FLNB	ORPHA:56305
HP:0012791	Abnormal humeral ossification	54808	DYM	OMIM:223800
HP:0009739	Hypoplasia of the antihelix	10157	AASS	ORPHA:2203
HP:0009739	Hypoplasia of the antihelix	29920	PYCR2	OMIM:616420
HP:0009738	Abnormal antihelix morphology	9401	RECQL4	OMIM:268400
HP:0009738	Abnormal antihelix morphology	9896	FIG4	OMIM:216340
HP:0009738	Abnormal antihelix morphology	2736	GLI2	OMIM:610829
HP:0009738	Abnormal antihelix morphology	4247	MGAT2	ORPHA:79329
HP:0009738	Abnormal antihelix morphology	6567	SLC16A2	OMIM:300523
HP:0009738	Abnormal antihelix morphology	29998	BICRA	OMIM:619325
HP:0009738	Abnormal antihelix morphology	1861	TOR1A	OMIM:618947
HP:0009738	Abnormal antihelix morphology	7994	KAT6A	OMIM:616268
HP:0009738	Abnormal antihelix morphology	80055	PGAP1	OMIM:615802
HP:0009738	Abnormal antihelix morphology	7025	NR2F1	OMIM:615722
HP:0009738	Abnormal antihelix morphology	23431	AP4E1	OMIM:613744
HP:0009738	Abnormal antihelix morphology	9230	RAB11B	OMIM:617807
HP:0009738	Abnormal antihelix morphology	51322	WAC	ORPHA:466950
HP:0009738	Abnormal antihelix morphology	7291	TWIST1	ORPHA:794
HP:0009738	Abnormal antihelix morphology	2263	FGFR2	ORPHA:794
HP:0009738	Abnormal antihelix morphology	2261	FGFR3	ORPHA:794
HP:0009738	Abnormal antihelix morphology	3981	LIG4	ORPHA:235
HP:0009738	Abnormal antihelix morphology	54888	NSUN2	ORPHA:235
HP:0009738	Abnormal antihelix morphology	2290	FOXG1	ORPHA:261144
HP:0009738	Abnormal antihelix morphology	22930	RAB3GAP1	ORPHA:1387
HP:0009738	Abnormal antihelix morphology	25782	RAB3GAP2	ORPHA:1387
HP:0009738	Abnormal antihelix morphology	284252	KCTD1	ORPHA:2036
HP:0009738	Abnormal antihelix morphology	2138	EYA1	ORPHA:2792
HP:0009738	Abnormal antihelix morphology	5075	PAX1	ORPHA:2792
HP:0009738	Abnormal antihelix morphology	23522	KAT6B	ORPHA:3047
HP:0009738	Abnormal antihelix morphology	5447	POR	ORPHA:95699
HP:0009738	Abnormal antihelix morphology	64132	XYLT2	ORPHA:85194
HP:0009738	Abnormal antihelix morphology	9343	EFTUD2	ORPHA:79113
HP:0009738	Abnormal antihelix morphology	2121	EVC	ORPHA:952
HP:0009738	Abnormal antihelix morphology	132884	EVC2	ORPHA:952
HP:0009738	Abnormal antihelix morphology	8241	RBM10	ORPHA:2886
HP:0009738	Abnormal antihelix morphology	10157	AASS	ORPHA:2203
HP:0009738	Abnormal antihelix morphology	29920	PYCR2	OMIM:616420
HP:0009738	Abnormal antihelix morphology	6134	RPL10	OMIM:300998
HP:0009738	Abnormal antihelix morphology	79005	SCNM1	OMIM:620107
HP:0009738	Abnormal antihelix morphology	23511	NUP188	OMIM:618804
HP:0009738	Abnormal antihelix morphology	1387	CREBBP	OMIM:618332
HP:0009738	Abnormal antihelix morphology	6929	TCF3	OMIM:619824
HP:0009738	Abnormal antihelix morphology	63932	STEEP1	OMIM:301013
HP:0009738	Abnormal antihelix morphology	2316	FLNA	OMIM:300321
HP:0009738	Abnormal antihelix morphology	23556	PIGN	ORPHA:280633
HP:0009738	Abnormal antihelix morphology	6299	SALL1	OMIM:107480
HP:0009735	Spinal neurofibroma	4763	NF1	OMIM:162210
HP:0009737	Lisch nodules	4763	NF1	OMIM:601321
HP:0009737	Lisch nodules	4763	NF1	OMIM:162200
HP:0009737	Lisch nodules	4763	NF1	OMIM:162210
HP:0009737	Lisch nodules	4763	NF1	ORPHA:363700
HP:0009737	Lisch nodules	4763	NF1	OMIM:193520
HP:0009737	Lisch nodules	4763	NF1	ORPHA:97685
HP:0009737	Lisch nodules	2956	MSH6	OMIM:619097
HP:0009737	Lisch nodules	161742	SPRED1	ORPHA:137605
HP:0009737	Lisch nodules	4771	NF2	OMIM:101000
HP:0009736	Tibial pseudarthrosis	4763	NF1	OMIM:162200
HP:0009740	Aplasia of the parotid gland	2263	FGFR2	OMIM:149730
HP:0009741	Nephrosclerosis	2263	FGFR2	OMIM:149730
HP:0009742	Stiff shoulders	7169	TPM2	OMIM:108120
HP:0009743	Distichiasis	80324	PUS1	OMIM:600462
HP:0009743	Distichiasis	80324	PUS1	ORPHA:2598
HP:0009743	Distichiasis	117581	TWIST2	ORPHA:1807
HP:0009743	Distichiasis	117581	TWIST2	OMIM:227260
HP:0009743	Distichiasis	1500	CTNND1	OMIM:617681
HP:0009743	Distichiasis	1500	CTNND1	ORPHA:1997
HP:0009743	Distichiasis	2303	FOXC2	OMIM:153400
HP:0009743	Distichiasis	2303	FOXC2	ORPHA:33001
HP:0009743	Distichiasis	1748	DLX4	OMIM:616788
HP:0009743	Distichiasis	57479	PRR12	OMIM:619539
HP:0009743	Distichiasis	999	CDH1	OMIM:119580
HP:0009743	Distichiasis	999	CDH1	ORPHA:1997
HP:0009743	Distichiasis	51067	YARS2	ORPHA:2598
HP:0009743	Distichiasis	3339	HSPG2	ORPHA:800
HP:0002580	Volvulus	23476	BRD4	ORPHA:199
HP:0002580	Volvulus	9126	SMC3	ORPHA:199
HP:0002580	Volvulus	8243	SMC1A	ORPHA:199
HP:0002580	Volvulus	25836	NIPBL	ORPHA:199
HP:0002580	Volvulus	55869	HDAC8	ORPHA:199
HP:0002580	Volvulus	5885	RAD21	ORPHA:199
HP:0002580	Volvulus	129563	DIS3L2	OMIM:267000
HP:0002580	Volvulus	4629	MYH11	OMIM:619350
HP:0002580	Volvulus	2294	FOXF1	ORPHA:210122
HP:0002580	Volvulus	2132	EXT2	OMIM:616682
HP:0002580	Volvulus	7010	TEK	ORPHA:1059
HP:0002580	Volvulus	738	VPS51	OMIM:618606
HP:0002580	Volvulus	55690	PACS1	OMIM:615009
HP:0002580	Volvulus	7407	VARS1	OMIM:617802
HP:0002580	Volvulus	546	ATRX	ORPHA:847
HP:0002580	Volvulus	1131	CHRM3	ORPHA:2970
HP:0002580	Volvulus	1174	AP1S1	OMIM:609313
HP:0001738	Exocrine pancreatic insufficiency	3767	KCNJ11	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	8462	KLF11	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	2645	GCK	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	26060	APPL1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	640	BLK	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	1056	CEL	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	1056	CEL	OMIM:609812
HP:0001738	Exocrine pancreatic insufficiency	4760	NEUROD1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3651	PDX1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3651	PDX1	OMIM:260370
HP:0001738	Exocrine pancreatic insufficiency	6833	ABCC8	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	5078	PAX4	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3172	HNF4A	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	6927	HNF1A	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3630	INS	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	170302	ARX	ORPHA:452
HP:0001738	Exocrine pancreatic insufficiency	22827	PUF60	ORPHA:508498
HP:0001738	Exocrine pancreatic insufficiency	22827	PUF60	ORPHA:508488
HP:0001738	Exocrine pancreatic insufficiency	1497	CTNS	OMIM:219800
HP:0001738	Exocrine pancreatic insufficiency	2212	FCGR2A	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	7040	TGFB1	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	7040	TGFB1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	51651	PTRH2	OMIM:616263
HP:0001738	Exocrine pancreatic insufficiency	51651	PTRH2	ORPHA:456312
HP:0001738	Exocrine pancreatic insufficiency	57003	CCDC47	OMIM:618268
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	OMIM:617052
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	23019	CNOT1	OMIM:618500
HP:0001738	Exocrine pancreatic insufficiency	537	ATP6AP1	OMIM:300972
HP:0001738	Exocrine pancreatic insufficiency	6928	HNF1B	OMIM:137920
HP:0001738	Exocrine pancreatic insufficiency	54914	FOCAD	OMIM:619991
HP:0001738	Exocrine pancreatic insufficiency	7468	NSD2	OMIM:619695
HP:0001738	Exocrine pancreatic insufficiency	8565	YARS1	OMIM:619418
HP:0001738	Exocrine pancreatic insufficiency	6774	STAT3	OMIM:615952
HP:0001738	Exocrine pancreatic insufficiency	2627	GATA6	ORPHA:2255
HP:0001738	Exocrine pancreatic insufficiency	5557	PRIM1	OMIM:620005
HP:0001738	Exocrine pancreatic insufficiency	256297	PTF1A	OMIM:615935
HP:0001738	Exocrine pancreatic insufficiency	8481	OFD1	ORPHA:2750
HP:0001738	Exocrine pancreatic insufficiency	9451	EIF2AK3	ORPHA:1667
HP:0001738	Exocrine pancreatic insufficiency	11330	CTRC	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	6690	SPINK1	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	5645	PRSS2	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	5644	PRSS1	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	197131	UBR1	ORPHA:2315
HP:0001738	Exocrine pancreatic insufficiency	197131	UBR1	OMIM:243800
HP:0001738	Exocrine pancreatic insufficiency	6804	STX1A	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	2947	GSTM3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	2729	GCLC	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	1084	CEACAM3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	6556	SLC11A1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	51164	DCTN4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3783	KCNN4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	4282	MIF	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	1909	EDNRA	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	6550	SLC9A3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3162	HMOX1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	115019	SLC26A9	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3077	HFE	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	11254	SLC6A14	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	5265	SERPINA1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	22802	CLCA4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	4680	CEACAM6	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	8567	MADD	OMIM:619004
HP:0001738	Exocrine pancreatic insufficiency	6729	SRP54	OMIM:618752
HP:0001738	Exocrine pancreatic insufficiency	6729	SRP54	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	6729	SRP54	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	51119	SBDS	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	51119	SBDS	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	79631	EFL1	OMIM:617941
HP:0001738	Exocrine pancreatic insufficiency	79631	EFL1	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	672	BRCA1	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	285282	RABL3	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	7157	TP53	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	675	BRCA2	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	3845	KRAS	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	1029	CDKN2A	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	79728	PALB2	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	4089	SMAD4	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	23022	PALLD	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	57570	TRMT5	OMIM:616539
HP:0001738	Exocrine pancreatic insufficiency	182	JAG1	OMIM:118450
HP:0001738	Exocrine pancreatic insufficiency	84701	COX4I2	OMIM:612714
HP:0002582	Atrophic gastritis	4790	NFKB1	OMIM:616576
HP:0002582	Atrophic gastritis	64135	IFIH1	OMIM:615846
HP:0002582	Atrophic gastritis	987	LRBA	OMIM:614700
HP:0002582	Atrophic gastritis	326	AIRE	OMIM:240300
HP:0002582	Atrophic gastritis	50619	DEF6	OMIM:619573
HP:0002582	Atrophic gastritis	1493	CTLA4	OMIM:616100
HP:0002582	Atrophic gastritis	999	CDH1	OMIM:137215
HP:0002583	Colitis	9051	PSTPIP1	OMIM:604416
HP:0002583	Colitis	355	FAS	ORPHA:3261
HP:0002583	Colitis	356	FASLG	ORPHA:3261
HP:0002583	Colitis	5580	PRKCD	ORPHA:3261
HP:0002583	Colitis	843	CASP10	ORPHA:3261
HP:0002583	Colitis	10125	RASGRP1	ORPHA:3261
HP:0002583	Colitis	51750	RTEL1	OMIM:615190
HP:0002583	Colitis	5422	POLA1	OMIM:301220
HP:0002583	Colitis	55612	FERMT1	ORPHA:2908
HP:0002583	Colitis	331	XIAP	OMIM:300635
HP:0002583	Colitis	7128	TNFAIP3	OMIM:616744
HP:0002583	Colitis	4261	CIITA	OMIM:209920
HP:0002583	Colitis	5994	RFXAP	OMIM:209920
HP:0002583	Colitis	5993	RFX5	OMIM:209920
HP:0002583	Colitis	8625	RFXANK	OMIM:209920
HP:0002583	Colitis	10625	IVNS1ABP	OMIM:618969
HP:0002583	Colitis	50943	FOXP3	ORPHA:37042
HP:0002583	Colitis	6499	SKIC2	OMIM:614602
HP:0002583	Colitis	6499	SKIC2	ORPHA:84064
HP:0002583	Colitis	3257	HPS1	OMIM:203300
HP:0002583	Colitis	987	LRBA	OMIM:614700
HP:0002583	Colitis	5293	PIK3CD	OMIM:619281
HP:0002583	Colitis	5551	PRF1	ORPHA:540
HP:0002583	Colitis	8676	STX11	ORPHA:540
HP:0002583	Colitis	201294	UNC13D	ORPHA:540
HP:0002583	Colitis	6813	STXBP2	ORPHA:540
HP:0002583	Colitis	6813	STXBP2	OMIM:613101
HP:0002583	Colitis	6850	SYK	OMIM:619381
HP:0002583	Colitis	2000	ELF4	OMIM:301074
HP:0002583	Colitis	8915	BCL10	OMIM:616098
HP:0002583	Colitis	23149	FCHO1	OMIM:619164
HP:0002583	Colitis	146206	CARMIL2	OMIM:618131
HP:0002583	Colitis	9652	SKIC3	ORPHA:84064
HP:0002583	Colitis	7535	ZAP70	OMIM:617006
HP:0002583	Colitis	7535	ZAP70	ORPHA:911
HP:0002583	Colitis	4689	NCF4	OMIM:613960
HP:0002583	Colitis	338328	GPIHBP1	OMIM:615947
HP:0002583	Colitis	58484	NLRC4	OMIM:616050
HP:0002583	Colitis	6772	STAT1	ORPHA:391487
HP:0002583	Colitis	10043	TOM1	ORPHA:391487
HP:0002583	Colitis	57217	TTC7A	OMIM:243150
HP:0002583	Colitis	26873	OPLAH	OMIM:260005
HP:0002583	Colitis	3587	IL10RA	OMIM:613148
HP:0002583	Colitis	3588	IL10RB	OMIM:612567
HP:0002583	Colitis	5294	PIK3CG	OMIM:619802
HP:0002583	Colitis	5979	RET	OMIM:142623
HP:0002583	Colitis	1991	ELANE	ORPHA:2686
HP:0002583	Colitis	1794	DOCK2	OMIM:616433
HP:0002583	Colitis	8547	FCN3	OMIM:613860
HP:0002583	Colitis	2271	FH	OMIM:606812
HP:0002583	Colitis	4629	MYH11	OMIM:619350
HP:0002583	Colitis	37	ACADVL	OMIM:201475
HP:0002583	Colitis	84992	PIGY	OMIM:616809
HP:0002583	Colitis	50619	DEF6	OMIM:619573
HP:0002583	Colitis	64858	DCLRE1B	OMIM:620133
HP:0002583	Colitis	7040	TGFB1	OMIM:618213
HP:0002583	Colitis	22900	CARD8	OMIM:619079
HP:0002583	Colitis	7454	WAS	OMIM:301000
HP:0002583	Colitis	2859	GPR35	ORPHA:171
HP:0002583	Colitis	10507	SEMA4D	ORPHA:171
HP:0002583	Colitis	4485	MST1	ORPHA:171
HP:0002583	Colitis	6925	TCF4	ORPHA:171
HP:0002583	Colitis	60468	BACH2	OMIM:618394
HP:0002583	Colitis	64127	NOD2	OMIM:266600
HP:0002583	Colitis	3569	IL6	OMIM:266600
HP:0002583	Colitis	55765	INAVA	OMIM:618077
HP:0002583	Colitis	10747	MASP2	OMIM:613791
HP:0002583	Colitis	27178	IL37	OMIM:619398
HP:0002583	Colitis	79415	CYBC1	OMIM:618935
HP:0002583	Colitis	6885	MAP3K7	OMIM:617137
HP:0002583	Colitis	84433	CARD11	OMIM:617638
HP:0002583	Colitis	5336	PLCG2	OMIM:614878
HP:0002583	Colitis	2542	SLC37A4	ORPHA:79259
HP:0002584	Intestinal bleeding	324	APC	ORPHA:261584
HP:0002584	Intestinal bleeding	80169	CTC1	OMIM:612199
HP:0002584	Intestinal bleeding	7010	TEK	ORPHA:1059
HP:0002584	Intestinal bleeding	7010	TEK	OMIM:600195
HP:0002584	Intestinal bleeding	6794	STK11	OMIM:175200
HP:0002584	Intestinal bleeding	5728	PTEN	ORPHA:79076
HP:0002584	Intestinal bleeding	657	BMPR1A	ORPHA:79076
HP:0002585	Abnormality of the peritoneum	8518	ELP1	ORPHA:1764
HP:0002585	Abnormality of the peritoneum	4665	NAB2	ORPHA:2126
HP:0002585	Abnormality of the peritoneum	6778	STAT6	ORPHA:2126
HP:0002585	Abnormality of the peritoneum	596	BCL2	ORPHA:545
HP:0002585	Abnormality of the peritoneum	3492	IGH	ORPHA:545
HP:0002585	Abnormality of the peritoneum	3123	HLA-DRB1	ORPHA:545
HP:0002585	Abnormality of the peritoneum	604	BCL6	ORPHA:545
HP:0002585	Abnormality of the peritoneum	2130	EWSR1	ORPHA:83469
HP:0002585	Abnormality of the peritoneum	811	CALR	ORPHA:131
HP:0002585	Abnormality of the peritoneum	3717	JAK2	ORPHA:131
HP:0002585	Abnormality of the peritoneum	2153	F5	ORPHA:131
HP:0002585	Abnormality of the peritoneum	4210	MEFV	OMIM:134610
HP:0002585	Abnormality of the peritoneum	4210	MEFV	ORPHA:342
HP:0002585	Abnormality of the peritoneum	4210	MEFV	OMIM:249100
HP:0002585	Abnormality of the peritoneum	4629	MYH11	OMIM:619351
HP:0002585	Abnormality of the peritoneum	54914	FOCAD	OMIM:619991
HP:0002585	Abnormality of the peritoneum	4598	MVK	ORPHA:343
HP:0002585	Abnormality of the peritoneum	629	CFB	OMIM:615561
HP:0002585	Abnormality of the peritoneum	672	BRCA1	ORPHA:168829
HP:0002585	Abnormality of the peritoneum	7132	TNFRSF1A	ORPHA:32960
HP:0002585	Abnormality of the peritoneum	1991	ELANE	ORPHA:2686
HP:0002585	Abnormality of the peritoneum	4868	NPHS1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	23607	CD2AP	ORPHA:656
HP:0002585	Abnormality of the peritoneum	9688	NUP93	ORPHA:656
HP:0002585	Abnormality of the peritoneum	4643	MYO1E	ORPHA:656
HP:0002585	Abnormality of the peritoneum	64423	INF2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	26130	GAPVD1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	7490	WT1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	57122	NUP107	ORPHA:656
HP:0002585	Abnormality of the peritoneum	51479	ANKFY1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	54443	ANLN	ORPHA:656
HP:0002585	Abnormality of the peritoneum	5800	PTPRO	ORPHA:656
HP:0002585	Abnormality of the peritoneum	286204	CRB2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	23165	NUP205	ORPHA:656
HP:0002585	Abnormality of the peritoneum	2013	EMP2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	79023	NUP37	ORPHA:656
HP:0002585	Abnormality of the peritoneum	51196	PLCE1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	79902	NUP85	ORPHA:656
HP:0002585	Abnormality of the peritoneum	1285	COL4A3	ORPHA:656
HP:0002585	Abnormality of the peritoneum	396	ARHGDIA	ORPHA:656
HP:0002585	Abnormality of the peritoneum	79934	COQ8B	ORPHA:656
HP:0002585	Abnormality of the peritoneum	23279	NUP160	ORPHA:656
HP:0002585	Abnormality of the peritoneum	9863	MAGI2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	81	ACTN4	ORPHA:656
HP:0002585	Abnormality of the peritoneum	7225	TRPC6	ORPHA:656
HP:0002585	Abnormality of the peritoneum	8542	APOL1	ORPHA:656
HP:0002585	Abnormality of the peritoneum	54885	TBC1D8B	ORPHA:656
HP:0002585	Abnormality of the peritoneum	7827	NPHS2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	83478	ARHGAP24	ORPHA:656
HP:0002585	Abnormality of the peritoneum	23500	DAAM2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	5076	PAX2	ORPHA:656
HP:0002585	Abnormality of the peritoneum	55746	NUP133	ORPHA:656
HP:0002585	Abnormality of the peritoneum	55315	SLC29A3	OMIM:602782
HP:0002585	Abnormality of the peritoneum	5054	SERPINE1	ORPHA:465
HP:0002585	Abnormality of the peritoneum	2159	F10	ORPHA:328
HP:0002585	Abnormality of the peritoneum	8318	CDC45	OMIM:617063
HP:0002585	Abnormality of the peritoneum	285282	RABL3	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	7157	TP53	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	675	BRCA2	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	3845	KRAS	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	1029	CDKN2A	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	79728	PALB2	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	4089	SMAD4	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	23022	PALLD	ORPHA:1333
HP:0002585	Abnormality of the peritoneum	5297	PI4KA	ORPHA:436252
HP:0002585	Abnormality of the peritoneum	57217	TTC7A	ORPHA:436252
HP:0002586	Peritonitis	811	CALR	ORPHA:131
HP:0002586	Peritonitis	3717	JAK2	ORPHA:131
HP:0002586	Peritonitis	2153	F5	ORPHA:131
HP:0002586	Peritonitis	4210	MEFV	OMIM:134610
HP:0002586	Peritonitis	4210	MEFV	ORPHA:342
HP:0002586	Peritonitis	4210	MEFV	OMIM:249100
HP:0002586	Peritonitis	4629	MYH11	OMIM:619351
HP:0002586	Peritonitis	54914	FOCAD	OMIM:619991
HP:0002586	Peritonitis	4598	MVK	ORPHA:343
HP:0002586	Peritonitis	629	CFB	OMIM:615561
HP:0002586	Peritonitis	672	BRCA1	ORPHA:168829
HP:0002586	Peritonitis	7132	TNFRSF1A	ORPHA:32960
HP:0002586	Peritonitis	1991	ELANE	ORPHA:2686
HP:0002586	Peritonitis	4868	NPHS1	ORPHA:656
HP:0002586	Peritonitis	23607	CD2AP	ORPHA:656
HP:0002586	Peritonitis	9688	NUP93	ORPHA:656
HP:0002586	Peritonitis	4643	MYO1E	ORPHA:656
HP:0002586	Peritonitis	64423	INF2	ORPHA:656
HP:0002586	Peritonitis	26130	GAPVD1	ORPHA:656
HP:0002586	Peritonitis	7490	WT1	ORPHA:656
HP:0002586	Peritonitis	57122	NUP107	ORPHA:656
HP:0002586	Peritonitis	51479	ANKFY1	ORPHA:656
HP:0002586	Peritonitis	54443	ANLN	ORPHA:656
HP:0002586	Peritonitis	5800	PTPRO	ORPHA:656
HP:0002586	Peritonitis	286204	CRB2	ORPHA:656
HP:0002586	Peritonitis	23165	NUP205	ORPHA:656
HP:0002586	Peritonitis	2013	EMP2	ORPHA:656
HP:0002586	Peritonitis	79023	NUP37	ORPHA:656
HP:0002586	Peritonitis	51196	PLCE1	ORPHA:656
HP:0002586	Peritonitis	79902	NUP85	ORPHA:656
HP:0002586	Peritonitis	1285	COL4A3	ORPHA:656
HP:0002586	Peritonitis	396	ARHGDIA	ORPHA:656
HP:0002586	Peritonitis	79934	COQ8B	ORPHA:656
HP:0002586	Peritonitis	23279	NUP160	ORPHA:656
HP:0002586	Peritonitis	9863	MAGI2	ORPHA:656
HP:0002586	Peritonitis	81	ACTN4	ORPHA:656
HP:0002586	Peritonitis	7225	TRPC6	ORPHA:656
HP:0002586	Peritonitis	8542	APOL1	ORPHA:656
HP:0002586	Peritonitis	54885	TBC1D8B	ORPHA:656
HP:0002586	Peritonitis	7827	NPHS2	ORPHA:656
HP:0002586	Peritonitis	83478	ARHGAP24	ORPHA:656
HP:0002586	Peritonitis	23500	DAAM2	ORPHA:656
HP:0002586	Peritonitis	5076	PAX2	ORPHA:656
HP:0002586	Peritonitis	55746	NUP133	ORPHA:656
HP:0002586	Peritonitis	8318	CDC45	OMIM:617063
HP:0002587	Projectile vomiting	79827	CLMP	OMIM:615237
HP:0002587	Projectile vomiting	9255	AIMP1	OMIM:260600
HP:0002587	Projectile vomiting	29928	TIMM22	OMIM:618851
HP:0002587	Projectile vomiting	55107	ANO1	OMIM:620045
HP:0002588	Duodenal ulcer	64132	XYLT2	OMIM:605822
HP:0002588	Duodenal ulcer	6850	SYK	OMIM:619381
HP:0002588	Duodenal ulcer	4221	MEN1	ORPHA:652
HP:0002588	Duodenal ulcer	1027	CDKN1B	ORPHA:652
HP:0002588	Duodenal ulcer	1026	CDKN1A	ORPHA:652
HP:0002588	Duodenal ulcer	1030	CDKN2B	ORPHA:652
HP:0002588	Duodenal ulcer	1031	CDKN2C	ORPHA:652
HP:0002588	Duodenal ulcer	2033	EP300	OMIM:618333
HP:0002588	Duodenal ulcer	57492	ARID1B	OMIM:135900
HP:0002588	Duodenal ulcer	5321	PLA2G4A	OMIM:618372
HP:0002588	Duodenal ulcer	5340	PLG	OMIM:217090
HP:0002588	Duodenal ulcer	5340	PLG	ORPHA:722
HP:0002589	Gastrointestinal atresia	6657	SOX2	ORPHA:77298
HP:0002589	Gastrointestinal atresia	6657	SOX2	OMIM:206900
HP:0002589	Gastrointestinal atresia	6657	SOX2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	7528	YY1	ORPHA:506358
HP:0002589	Gastrointestinal atresia	2294	FOXF1	OMIM:265380
HP:0002589	Gastrointestinal atresia	2263	FGFR2	ORPHA:87
HP:0002589	Gastrointestinal atresia	2263	FGFR2	OMIM:101200
HP:0002589	Gastrointestinal atresia	2177	FANCD2	OMIM:227646
HP:0002589	Gastrointestinal atresia	2072	ERCC4	OMIM:615272
HP:0002589	Gastrointestinal atresia	55120	FANCL	OMIM:614083
HP:0002589	Gastrointestinal atresia	5339	PLEC	OMIM:226730
HP:0002589	Gastrointestinal atresia	3691	ITGB4	OMIM:226730
HP:0002589	Gastrointestinal atresia	2187	FANCB	OMIM:300514
HP:0002589	Gastrointestinal atresia	2187	FANCB	OMIM:314390
HP:0002589	Gastrointestinal atresia	2187	FANCB	ORPHA:3412
HP:0002589	Gastrointestinal atresia	10606	PAICS	OMIM:619859
HP:0002589	Gastrointestinal atresia	6023	RMRP	OMIM:250250
HP:0002589	Gastrointestinal atresia	5422	POLA1	OMIM:301030
HP:0002589	Gastrointestinal atresia	55112	DYNC2I1	ORPHA:93271
HP:0002589	Gastrointestinal atresia	57560	IFT80	ORPHA:93271
HP:0002589	Gastrointestinal atresia	57539	WDR35	ORPHA:93271
HP:0002589	Gastrointestinal atresia	79659	DYNC2H1	ORPHA:93271
HP:0002589	Gastrointestinal atresia	89891	DYNC2I2	ORPHA:93271
HP:0002589	Gastrointestinal atresia	7547	ZIC3	OMIM:314390
HP:0002589	Gastrointestinal atresia	51729	WBP11	OMIM:619227
HP:0002589	Gastrointestinal atresia	55636	CHD7	OMIM:214800
HP:0002589	Gastrointestinal atresia	10046	MAMLD1	ORPHA:95706
HP:0002589	Gastrointestinal atresia	367	AR	ORPHA:95706
HP:0002589	Gastrointestinal atresia	6602	SMARCD1	OMIM:618779
HP:0002589	Gastrointestinal atresia	4990	SIX6	OMIM:206900
HP:0002589	Gastrointestinal atresia	9343	EFTUD2	OMIM:610536
HP:0002589	Gastrointestinal atresia	2260	FGFR1	ORPHA:3157
HP:0002589	Gastrointestinal atresia	128674	PROKR2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	6658	SOX3	ORPHA:3157
HP:0002589	Gastrointestinal atresia	9915	ARNT2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	8820	HESX1	ORPHA:3157
HP:0002589	Gastrointestinal atresia	5015	OTX2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	5053	PAH	ORPHA:2209
HP:0002589	Gastrointestinal atresia	2188	FANCF	OMIM:603467
HP:0002589	Gastrointestinal atresia	28514	DLL1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2253	FGF8	ORPHA:280200
HP:0002589	Gastrointestinal atresia	6496	SIX3	ORPHA:280200
HP:0002589	Gastrointestinal atresia	7050	TGIF1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	4838	NODAL	ORPHA:280200
HP:0002589	Gastrointestinal atresia	4838	NODAL	OMIM:270100
HP:0002589	Gastrointestinal atresia	6469	SHH	ORPHA:280200
HP:0002589	Gastrointestinal atresia	51684	SUFU	ORPHA:280200
HP:0002589	Gastrointestinal atresia	7546	ZIC2	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2619	GAS1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	84976	DISP1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2736	GLI2	ORPHA:280200
HP:0002589	Gastrointestinal atresia	8928	FOXH1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	5727	PTCH1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	50937	CDON	ORPHA:280200
HP:0002589	Gastrointestinal atresia	10735	STAG2	OMIM:301043
HP:0002589	Gastrointestinal atresia	64840	PORCN	ORPHA:2092
HP:0002589	Gastrointestinal atresia	51780	KDM3B	OMIM:618846
HP:0002589	Gastrointestinal atresia	815	CAMK2A	OMIM:617798
HP:0002589	Gastrointestinal atresia	23556	PIGN	ORPHA:2059
HP:0002589	Gastrointestinal atresia	25914	RTTN	ORPHA:468631
HP:0002589	Gastrointestinal atresia	1859	DYRK1A	ORPHA:464311
HP:0002589	Gastrointestinal atresia	701	BUB1B	OMIM:257300
HP:0002589	Gastrointestinal atresia	701	BUB1B	ORPHA:1052
HP:0002589	Gastrointestinal atresia	6299	SALL1	OMIM:107480
HP:0002589	Gastrointestinal atresia	9184	BUB3	ORPHA:1052
HP:0002589	Gastrointestinal atresia	699	BUB1	ORPHA:1052
HP:0002589	Gastrointestinal atresia	9702	CEP57	ORPHA:1052
HP:0002589	Gastrointestinal atresia	9702	CEP57	OMIM:614114
HP:0002589	Gastrointestinal atresia	9319	TRIP13	ORPHA:1052
HP:0002589	Gastrointestinal atresia	55159	RFWD3	OMIM:617784
HP:0002589	Gastrointestinal atresia	473	RERE	OMIM:616975
HP:0002589	Gastrointestinal atresia	25790	CFAP45	OMIM:619608
HP:0002589	Gastrointestinal atresia	2313	FLI1	ORPHA:2308
HP:0002589	Gastrointestinal atresia	2201	FBN2	ORPHA:115
HP:0002589	Gastrointestinal atresia	4613	MYCN	ORPHA:391641
HP:0002589	Gastrointestinal atresia	4613	MYCN	OMIM:164280
HP:0002589	Gastrointestinal atresia	374879	ZNF699	OMIM:619488
HP:0002589	Gastrointestinal atresia	222546	RFX6	OMIM:615710
HP:0002589	Gastrointestinal atresia	4659	PPP1R12A	OMIM:618820
HP:0002589	Gastrointestinal atresia	1063	CENPF	OMIM:243605
HP:0002589	Gastrointestinal atresia	1174	AP1S1	OMIM:609313
HP:0002589	Gastrointestinal atresia	407975	MIR17HG	ORPHA:391646
HP:0002589	Gastrointestinal atresia	8604	SLC25A12	OMIM:612949
HP:0002589	Gastrointestinal atresia	1349	COX7B	OMIM:309801
HP:0002589	Gastrointestinal atresia	3052	HCCS	OMIM:309801
HP:0002589	Gastrointestinal atresia	54539	NDUFB11	OMIM:309801
HP:0002589	Gastrointestinal atresia	3655	ITGA6	ORPHA:79403
HP:0002589	Gastrointestinal atresia	25942	SIN3A	ORPHA:94065
HP:0002589	Gastrointestinal atresia	6651	SON	OMIM:617140
HP:0002589	Gastrointestinal atresia	79827	CLMP	OMIM:615237
HP:0002589	Gastrointestinal atresia	11005	SPINK5	OMIM:256500
HP:0002589	Gastrointestinal atresia	5297	PI4KA	ORPHA:436252
HP:0002589	Gastrointestinal atresia	5297	PI4KA	OMIM:619708
HP:0002589	Gastrointestinal atresia	1131	CHRM3	ORPHA:2970
HP:0002589	Gastrointestinal atresia	4629	MYH11	OMIM:619351
HP:0002589	Gastrointestinal atresia	29925	GMPPB	OMIM:615351
HP:0002589	Gastrointestinal atresia	341640	FREM2	OMIM:617666
HP:0002589	Gastrointestinal atresia	5889	RAD51C	OMIM:613390
HP:0002589	Gastrointestinal atresia	57217	TTC7A	OMIM:243150
HP:0002589	Gastrointestinal atresia	26123	TCTN3	ORPHA:2753
HP:0002589	Gastrointestinal atresia	129563	DIS3L2	OMIM:267000
HP:0009746	Thick nasal septum	6197	RPS6KA3	OMIM:303600
HP:0009745	Spinal arachnoid cyst	2303	FOXC2	ORPHA:33001
HP:0009748	Large earlobe	2245	FGD1	OMIM:305400
HP:0009748	Large earlobe	23013	SPEN	OMIM:619312
HP:0009748	Large earlobe	10785	WDR4	OMIM:618346
HP:0009748	Large earlobe	9320	TRIP12	OMIM:617752
HP:0009748	Large earlobe	55023	PHIP	OMIM:617991
HP:0009748	Large earlobe	4853	NOTCH2	OMIM:102500
HP:0009748	Large earlobe	51002	TPRKB	OMIM:617731
HP:0009748	Large earlobe	55275	VPS53	OMIM:615851
HP:0009748	Large earlobe	673	BRAF	OMIM:115150
HP:0009748	Large earlobe	673	BRAF	OMIM:613706
HP:0009748	Large earlobe	1968	EIF2S3	ORPHA:85282
HP:0009748	Large earlobe	5361	PLXNA1	OMIM:619955
HP:0009748	Large earlobe	85440	DOCK7	ORPHA:411986
HP:0009748	Large earlobe	1836	SLC26A2	ORPHA:628
HP:0009748	Large earlobe	93210	PGAP3	OMIM:615716
HP:0009748	Large earlobe	84295	PHF6	ORPHA:127
HP:0009748	Large earlobe	9839	ZEB2	OMIM:235730
HP:0009748	Large earlobe	84992	PIGY	OMIM:616809
HP:0009748	Large earlobe	64093	SMOC1	ORPHA:1106
HP:0009748	Large earlobe	55593	OTUD5	OMIM:301056
HP:0009748	Large earlobe	3265	HRAS	ORPHA:3071
HP:0009748	Large earlobe	283209	PGM2L1	OMIM:620191
HP:0009748	Large earlobe	5290	PIK3CA	OMIM:602501
HP:0009748	Large earlobe	1718	DHCR24	ORPHA:35107
HP:0009748	Large earlobe	29998	BICRA	OMIM:619325
HP:0009748	Large earlobe	51506	UFC1	OMIM:618076
HP:0009748	Large earlobe	7358	UGDH	OMIM:618792
HP:0009748	Large earlobe	1806	DPYD	ORPHA:1675
HP:0009748	Large earlobe	1009	CDH11	ORPHA:1299
HP:0009748	Large earlobe	9772	TMEM94	OMIM:618316
HP:0009748	Large earlobe	51085	MLXIPL	OMIM:194050
HP:0009748	Large earlobe	2006	ELN	OMIM:194050
HP:0009748	Large earlobe	9343	EFTUD2	ORPHA:79113
HP:0009748	Large earlobe	26040	SETBP1	ORPHA:798
HP:0009748	Large earlobe	2697	GJA1	OMIM:257850
HP:0009747	Lumbosacral hirsutism	57492	ARID1B	OMIM:135900
HP:0003097	Short femur	9949	AMMECR1	OMIM:300990
HP:0003097	Short femur	8200	GDF5	OMIM:200700
HP:0003097	Short femur	10588	MTHFS	OMIM:618367
HP:0003097	Short femur	65250	CPLANE1	OMIM:277170
HP:0003097	Short femur	23483	TGDS	OMIM:616145
HP:0003097	Short femur	55503	TRPV6	OMIM:618188
HP:0003097	Short femur	57167	SALL4	OMIM:147750
HP:0003097	Short femur	100151683	RNU4ATAC	OMIM:210710
HP:0003097	Short femur	815	CAMK2A	OMIM:617798
HP:0003097	Short femur	727857	BHLHA9	ORPHA:3329
HP:0003097	Short femur	2261	FGFR3	ORPHA:1860
HP:0003097	Short femur	2261	FGFR3	OMIM:100800
HP:0003097	Short femur	9496	TBX4	OMIM:147891
HP:0003097	Short femur	1280	COL2A1	ORPHA:94068
HP:0003097	Short femur	11128	POLR3A	OMIM:264090
HP:0003097	Short femur	11128	POLR3A	ORPHA:3455
HP:0003097	Short femur	6913	TBX15	ORPHA:93333
HP:0003097	Short femur	2317	FLNB	OMIM:108720
HP:0003097	Short femur	2317	FLNB	ORPHA:1190
HP:0003097	Short femur	79087	ALG12	OMIM:607143
HP:0003097	Short femur	22827	PUF60	ORPHA:508488
HP:0003097	Short femur	1836	SLC26A2	ORPHA:56304
HP:0003097	Short femur	8540	AGPS	OMIM:600121
HP:0003097	Short femur	3549	IHH	OMIM:607778
HP:0003097	Short femur	8802	SUCLG1	ORPHA:17
HP:0003097	Short femur	202018	TAPT1	OMIM:616897
HP:0003097	Short femur	8792	TNFRSF11A	OMIM:602080
HP:0003097	Short femur	871	SERPINH1	OMIM:613848
HP:0003097	Short femur	1301	COL11A1	ORPHA:440354
HP:0009751	Aplasia of the pectoralis major muscle	6910	TBX5	OMIM:142900
HP:0009751	Aplasia of the pectoralis major muscle	5980	REV3L	ORPHA:570
HP:0009751	Aplasia of the pectoralis major muscle	23129	PLXND1	ORPHA:570
HP:0009751	Aplasia of the pectoralis major muscle	6926	TBX3	ORPHA:3138
HP:0009751	Aplasia of the pectoralis major muscle	389827	MYMK	ORPHA:1358
HP:0009751	Aplasia of the pectoralis major muscle	101929726	MYMX	ORPHA:1358
HP:0009752	Cleft in skull base	219844	HYLS1	OMIM:236680
HP:0009754	Fibrous syngnathia	3664	IRF6	ORPHA:1300
HP:0009754	Fibrous syngnathia	3664	IRF6	OMIM:119500
HP:0002590	Paralytic ileus	3145	HMBS	OMIM:176000
HP:0002590	Paralytic ileus	91574	MTRFR	ORPHA:254930
HP:0002590	Paralytic ileus	91574	MTRFR	OMIM:613559
HP:0002590	Paralytic ileus	2184	FAH	OMIM:276700
HP:0002592	Gastric ulcer	493856	CISD2	OMIM:604928
HP:0002592	Gastric ulcer	493856	CISD2	ORPHA:3463
HP:0002592	Gastric ulcer	7466	WFS1	ORPHA:3463
HP:0002592	Gastric ulcer	57492	ARID1B	OMIM:135900
HP:0002592	Gastric ulcer	2629	GBA1	ORPHA:2072
HP:0002592	Gastric ulcer	5321	PLA2G4A	OMIM:618372
HP:0002593	Intestinal lymphangiectasia	9780	PIEZO1	OMIM:616843
HP:0002593	Intestinal lymphangiectasia	79633	FAT4	OMIM:616006
HP:0002593	Intestinal lymphangiectasia	1604	CD55	OMIM:226300
HP:0002593	Intestinal lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0002594	Pancreatic hypoplasia	2627	GATA6	OMIM:600001
HP:0002594	Pancreatic hypoplasia	2627	GATA6	ORPHA:2255
HP:0002594	Pancreatic hypoplasia	3767	KCNJ11	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3767	KCNJ11	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	8462	KLF11	ORPHA:552
HP:0002594	Pancreatic hypoplasia	2645	GCK	ORPHA:552
HP:0002594	Pancreatic hypoplasia	2645	GCK	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	26060	APPL1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	640	BLK	ORPHA:552
HP:0002594	Pancreatic hypoplasia	1056	CEL	ORPHA:552
HP:0002594	Pancreatic hypoplasia	4760	NEUROD1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3651	PDX1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3651	PDX1	OMIM:260370
HP:0002594	Pancreatic hypoplasia	3651	PDX1	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	6833	ABCC8	ORPHA:552
HP:0002594	Pancreatic hypoplasia	6833	ABCC8	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	5078	PAX4	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3172	HNF4A	ORPHA:552
HP:0002594	Pancreatic hypoplasia	6927	HNF1A	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3630	INS	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3630	INS	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	55315	SLC29A3	OMIM:602782
HP:0002594	Pancreatic hypoplasia	6928	HNF1B	OMIM:137920
HP:0002594	Pancreatic hypoplasia	54914	FOCAD	OMIM:619991
HP:0002594	Pancreatic hypoplasia	222546	RFX6	OMIM:615710
HP:0002594	Pancreatic hypoplasia	169792	GLIS3	OMIM:610199
HP:0002594	Pancreatic hypoplasia	256297	PTF1A	OMIM:615935
HP:0002594	Pancreatic hypoplasia	256297	PTF1A	OMIM:609069
HP:0002594	Pancreatic hypoplasia	6774	STAT3	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	134218	DNAJC21	ORPHA:811
HP:0002594	Pancreatic hypoplasia	79631	EFL1	ORPHA:811
HP:0002594	Pancreatic hypoplasia	51119	SBDS	ORPHA:811
HP:0002594	Pancreatic hypoplasia	6729	SRP54	ORPHA:811
HP:0002595	Ileus	91574	MTRFR	ORPHA:254930
HP:0002595	Ileus	91574	MTRFR	OMIM:613559
HP:0002595	Ileus	2184	FAH	OMIM:276700
HP:0002595	Ileus	6535	SLC6A8	OMIM:300352
HP:0002595	Ileus	6535	SLC6A8	ORPHA:52503
HP:0002595	Ileus	2130	EWSR1	ORPHA:83469
HP:0002595	Ileus	7490	WT1	ORPHA:83469
HP:0002595	Ileus	50943	FOXP3	ORPHA:37042
HP:0002595	Ileus	50943	FOXP3	OMIM:304790
HP:0002595	Ileus	6663	SOX10	ORPHA:163746
HP:0002595	Ileus	6663	SOX10	OMIM:609136
HP:0002595	Ileus	284119	CAVIN1	OMIM:613327
HP:0002595	Ileus	5498	PPOX	ORPHA:79473
HP:0002595	Ileus	3145	HMBS	ORPHA:79276
HP:0002595	Ileus	26153	KIF26A	OMIM:620156
HP:0002595	Ileus	6572	SLC18A3	OMIM:617239
HP:0002595	Ileus	2984	GUCY2C	OMIM:614665
HP:0002595	Ileus	6804	STX1A	ORPHA:586
HP:0002595	Ileus	2947	GSTM3	ORPHA:586
HP:0002595	Ileus	7040	TGFB1	ORPHA:586
HP:0002595	Ileus	7040	TGFB1	OMIM:219700
HP:0002595	Ileus	2729	GCLC	ORPHA:586
HP:0002595	Ileus	1084	CEACAM3	ORPHA:586
HP:0002595	Ileus	6556	SLC11A1	ORPHA:586
HP:0002595	Ileus	51164	DCTN4	ORPHA:586
HP:0002595	Ileus	3783	KCNN4	ORPHA:586
HP:0002595	Ileus	4282	MIF	ORPHA:586
HP:0002595	Ileus	1909	EDNRA	ORPHA:586
HP:0002595	Ileus	6550	SLC9A3	ORPHA:586
HP:0002595	Ileus	3162	HMOX1	ORPHA:586
HP:0002595	Ileus	115019	SLC26A9	ORPHA:586
HP:0002595	Ileus	3077	HFE	ORPHA:586
HP:0002595	Ileus	11254	SLC6A14	ORPHA:586
HP:0002595	Ileus	5265	SERPINA1	ORPHA:586
HP:0002595	Ileus	1080	CFTR	ORPHA:586
HP:0002595	Ileus	1080	CFTR	OMIM:219700
HP:0002595	Ileus	22802	CLCA4	ORPHA:586
HP:0002595	Ileus	4680	CEACAM6	ORPHA:586
HP:0002595	Ileus	2212	FCGR2A	OMIM:219700
HP:0004362	Abnormality of enteric ganglion morphology	79600	TCTN1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	79848	CSPP1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	51684	SUFU	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	54806	AHI1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	54806	AHI1	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	153241	CEP120	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	153241	CEP120	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	65250	CPLANE1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	91147	TMEM67	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	200894	ARL13B	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	9731	CEP104	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	219844	HYLS1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	23247	KATNIP	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	219854	TMEM218	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	54903	MKS1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	54903	MKS1	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	95681	CEP41	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	95681	CEP41	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	9786	KIAA0586	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	56623	INPP5E	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	56623	INPP5E	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	79867	TCTN2	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	80776	B9D2	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	10464	PIBF1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	80210	ARMC9	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	23116	TOGARAM1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	25776	CBY1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	27077	B9D1	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	403	ARL3	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	25970	SH2B1	ORPHA:261222
HP:0004362	Abnormality of enteric ganglion morphology	6535	SLC6A8	OMIM:300352
HP:0004362	Abnormality of enteric ganglion morphology	6535	SLC6A8	ORPHA:52503
HP:0004362	Abnormality of enteric ganglion morphology	10262	SF3B4	OMIM:154400
HP:0004362	Abnormality of enteric ganglion morphology	8260	NAA10	OMIM:309800
HP:0004362	Abnormality of enteric ganglion morphology	54880	BCOR	OMIM:309800
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	OMIM:613013
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	ORPHA:99803
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	ORPHA:2151
HP:0004362	Abnormality of enteric ganglion morphology	26128	KIFBP	OMIM:609460
HP:0004362	Abnormality of enteric ganglion morphology	26128	KIFBP	ORPHA:66629
HP:0004362	Abnormality of enteric ganglion morphology	6023	RMRP	OMIM:250250
HP:0004362	Abnormality of enteric ganglion morphology	6023	RMRP	ORPHA:175
HP:0004362	Abnormality of enteric ganglion morphology	23556	PIGN	ORPHA:2059
HP:0004362	Abnormality of enteric ganglion morphology	8195	MKKS	OMIM:236700
HP:0004362	Abnormality of enteric ganglion morphology	8195	MKKS	ORPHA:2473
HP:0004362	Abnormality of enteric ganglion morphology	84720	PIGO	OMIM:614749
HP:0004362	Abnormality of enteric ganglion morphology	84720	PIGO	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	57167	SALL4	OMIM:607323
HP:0004362	Abnormality of enteric ganglion morphology	57167	SALL4	ORPHA:959
HP:0004362	Abnormality of enteric ganglion morphology	6925	TCF4	ORPHA:2896
HP:0004362	Abnormality of enteric ganglion morphology	64324	NSD1	ORPHA:821
HP:0004362	Abnormality of enteric ganglion morphology	29072	SETD2	ORPHA:821
HP:0004362	Abnormality of enteric ganglion morphology	10297	APC2	ORPHA:821
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	OMIM:613265
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	OMIM:613712
HP:0004362	Abnormality of enteric ganglion morphology	627	BDNF	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	283446	MYO1H	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	215	ABCD1	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	6608	SMO	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1889	ECE1	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1889	ECE1	OMIM:613870
HP:0004362	Abnormality of enteric ganglion morphology	6720	SREBF1	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	223117	SEMA3D	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	538	ATP7A	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	OMIM:277580
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	OMIM:600155
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	OMIM:600501
HP:0004362	Abnormality of enteric ganglion morphology	10512	SEMA3C	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	2065	ERBB3	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	2065	ERBB3	OMIM:243180
HP:0004362	Abnormality of enteric ganglion morphology	4902	NRTN	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2	OMIM:308205
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2	ORPHA:2273
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2	ORPHA:85284
HP:0004362	Abnormality of enteric ganglion morphology	83479	DDX59	ORPHA:2919
HP:0004362	Abnormality of enteric ganglion morphology	83479	DDX59	OMIM:174300
HP:0004362	Abnormality of enteric ganglion morphology	2623	GATA1	OMIM:190685
HP:0004362	Abnormality of enteric ganglion morphology	23322	RPGRIP1L	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	4867	NPHP1	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	3845	KRAS	ORPHA:3339
HP:0004362	Abnormality of enteric ganglion morphology	72	ACTG2	ORPHA:2604
HP:0004362	Abnormality of enteric ganglion morphology	72	ACTG2	OMIM:155310
HP:0004362	Abnormality of enteric ganglion morphology	1717	DHCR7	ORPHA:818
HP:0004362	Abnormality of enteric ganglion morphology	1717	DHCR7	OMIM:270400
HP:0004362	Abnormality of enteric ganglion morphology	429	ASCL1	ORPHA:99803
HP:0004362	Abnormality of enteric ganglion morphology	4286	MITF	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	4286	MITF	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	6591	SNAI2	ORPHA:2884
HP:0004362	Abnormality of enteric ganglion morphology	6591	SNAI2	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	3815	KIT	ORPHA:2884
HP:0004362	Abnormality of enteric ganglion morphology	3815	KIT	OMIM:172800
HP:0004362	Abnormality of enteric ganglion morphology	55650	PIGV	OMIM:239300
HP:0004362	Abnormality of enteric ganglion morphology	55650	PIGV	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	7846	TUBA1A	ORPHA:171680
HP:0004362	Abnormality of enteric ganglion morphology	170302	ARX	ORPHA:452
HP:0004362	Abnormality of enteric ganglion morphology	7299	TYR	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	4254	KITLG	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	5077	PAX3	ORPHA:894
HP:0004362	Abnormality of enteric ganglion morphology	5077	PAX3	OMIM:148820
HP:0004362	Abnormality of enteric ganglion morphology	84992	PIGY	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	93210	PGAP3	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	284098	PIGW	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	27315	PGAP2	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	27315	PGAP2	OMIM:614207
HP:0004362	Abnormality of enteric ganglion morphology	9487	PIGL	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	84100	ARL6	OMIM:209900
HP:0004362	Abnormality of enteric ganglion morphology	79140	CCDC28B	OMIM:209900
HP:0004362	Abnormality of enteric ganglion morphology	582	BBS1	OMIM:209900
HP:0004362	Abnormality of enteric ganglion morphology	672	BRCA1	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	10459	MAD2L2	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	7516	XRCC2	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	29089	UBE2T	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	675	BRCA2	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	55120	FANCL	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2177	FANCD2	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2175	FANCA	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2187	FANCB	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2176	FANCC	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2178	FANCE	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2188	FANCF	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2189	FANCG	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	5888	RAD51	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	5889	RAD51C	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	55159	RFWD3	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	83990	BRIP1	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	57697	FANCM	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	79728	PALB2	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	84464	SLX4	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2072	ERCC4	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	55215	FANCI	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	546	ATRX	ORPHA:847
HP:0004362	Abnormality of enteric ganglion morphology	1312	COMT	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	221037	JMJD1C	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	2812	GP1BB	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	6239	RREB1	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	6899	TBX1	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	7290	HIRA	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	9632	SEC24C	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	7353	UFD1	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	421	ARVCF	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	79583	TMEM231	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	51524	TMEM138	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	23090	ZNF423	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	80184	CEP290	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	51259	TMEM216	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	57545	CC2D2A	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	2294	FOXF1	ORPHA:210122
HP:0004362	Abnormality of enteric ganglion morphology	3897	L1CAM	OMIM:304100
HP:0004362	Abnormality of enteric ganglion morphology	3897	L1CAM	ORPHA:1497
HP:0004362	Abnormality of enteric ganglion morphology	26040	SETBP1	ORPHA:798
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET	OMIM:142623
HP:0004362	Abnormality of enteric ganglion morphology	9839	ZEB2	OMIM:235730
HP:0004362	Abnormality of enteric ganglion morphology	2064	ERBB2	OMIM:619465
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10	OMIM:609136
HP:0004362	Abnormality of enteric ganglion morphology	2668	GDNF	OMIM:613711
HP:0002597	Abnormality of the vasculature	79644	SRD5A3	OMIM:612713
HP:0002597	Abnormality of the vasculature	246329	STAC3	ORPHA:168572
HP:0002597	Abnormality of the vasculature	7450	VWF	OMIM:193400
HP:0002597	Abnormality of the vasculature	55129	ANO10	ORPHA:284289
HP:0002597	Abnormality of the vasculature	55129	ANO10	OMIM:613728
HP:0002597	Abnormality of the vasculature	8675	STX16	ORPHA:94089
HP:0002597	Abnormality of the vasculature	2067	ERCC1	ORPHA:90322
HP:0002597	Abnormality of the vasculature	3507	IGHM	OMIM:601495
HP:0002597	Abnormality of the vasculature	3507	IGHM	ORPHA:33110
HP:0002597	Abnormality of the vasculature	4312	MMP1	OMIM:226600
HP:0002597	Abnormality of the vasculature	162	AP1B1	OMIM:242150
HP:0002597	Abnormality of the vasculature	5075	PAX1	OMIM:615560
HP:0002597	Abnormality of the vasculature	974	CD79B	OMIM:612692
HP:0002597	Abnormality of the vasculature	974	CD79B	ORPHA:33110
HP:0002597	Abnormality of the vasculature	7086	TKT	ORPHA:488618
HP:0002597	Abnormality of the vasculature	7037	TFRC	OMIM:616740
HP:0002597	Abnormality of the vasculature	7994	KAT6A	OMIM:616268
HP:0002597	Abnormality of the vasculature	2077	ERF	ORPHA:207
HP:0002597	Abnormality of the vasculature	3321	IGSF3	OMIM:149700
HP:0002597	Abnormality of the vasculature	973	CD79A	ORPHA:33110
HP:0002597	Abnormality of the vasculature	3543	IGLL1	ORPHA:33110
HP:0002597	Abnormality of the vasculature	29760	BLNK	ORPHA:33110
HP:0002597	Abnormality of the vasculature	56262	LRRC8A	ORPHA:33110
HP:0002597	Abnormality of the vasculature	3978	LIG1	OMIM:619774
HP:0002597	Abnormality of the vasculature	23328	SASH1	OMIM:618373
HP:0002597	Abnormality of the vasculature	4683	NBN	OMIM:251260
HP:0002597	Abnormality of the vasculature	5648	MASP1	OMIM:257920
HP:0002597	Abnormality of the vasculature	23064	SETX	OMIM:606002
HP:0002597	Abnormality of the vasculature	5190	PEX6	ORPHA:95433
HP:0002597	Abnormality of the vasculature	344	APOC2	OMIM:207750
HP:0002597	Abnormality of the vasculature	2538	G6PC1	OMIM:232200
HP:0002597	Abnormality of the vasculature	338328	GPIHBP1	OMIM:615947
HP:0002597	Abnormality of the vasculature	57724	EPG5	OMIM:242840
HP:0002597	Abnormality of the vasculature	80144	FRAS1	OMIM:219000
HP:0002597	Abnormality of the vasculature	57217	TTC7A	OMIM:243150
HP:0002597	Abnormality of the vasculature	57217	TTC7A	ORPHA:436252
HP:0002597	Abnormality of the vasculature	5297	PI4KA	ORPHA:436252
HP:0002597	Abnormality of the vasculature	5830	PEX5	OMIM:214110
HP:0002597	Abnormality of the vasculature	56160	NSMCE3	OMIM:617241
HP:0002597	Abnormality of the vasculature	341640	FREM2	OMIM:617666
HP:0002597	Abnormality of the vasculature	23476	BRD4	ORPHA:199
HP:0002597	Abnormality of the vasculature	9126	SMC3	ORPHA:199
HP:0002597	Abnormality of the vasculature	9126	SMC3	OMIM:610759
HP:0002597	Abnormality of the vasculature	25836	NIPBL	ORPHA:199
HP:0002597	Abnormality of the vasculature	25836	NIPBL	OMIM:122470
HP:0002597	Abnormality of the vasculature	55869	HDAC8	ORPHA:199
HP:0002597	Abnormality of the vasculature	55869	HDAC8	OMIM:300882
HP:0002597	Abnormality of the vasculature	5885	RAD21	ORPHA:199
HP:0002597	Abnormality of the vasculature	5885	RAD21	OMIM:614701
HP:0002597	Abnormality of the vasculature	54888	NSUN2	ORPHA:235
HP:0002597	Abnormality of the vasculature	8364	H4C3	OMIM:619758
HP:0002597	Abnormality of the vasculature	10274	STAG1	ORPHA:502434
HP:0002597	Abnormality of the vasculature	10060	ABCC9	OMIM:619719
HP:0002597	Abnormality of the vasculature	55027	HEATR3	OMIM:620072
HP:0002597	Abnormality of the vasculature	79068	FTO	OMIM:612938
HP:0002597	Abnormality of the vasculature	6197	RPS6KA3	OMIM:303600
HP:0002597	Abnormality of the vasculature	1663	DDX11	OMIM:613398
HP:0002597	Abnormality of the vasculature	10000	AKT3	OMIM:615937
HP:0002597	Abnormality of the vasculature	51574	LARP7	ORPHA:319671
HP:0002597	Abnormality of the vasculature	2533	FYB1	OMIM:273900
HP:0002597	Abnormality of the vasculature	3937	LCP2	OMIM:619374
HP:0002597	Abnormality of the vasculature	64858	DCLRE1B	OMIM:620133
HP:0002597	Abnormality of the vasculature	2778	GNAS	OMIM:219080
HP:0002597	Abnormality of the vasculature	2778	GNAS	ORPHA:189427
HP:0002597	Abnormality of the vasculature	54453	RIN2	ORPHA:217335
HP:0002597	Abnormality of the vasculature	54453	RIN2	OMIM:613075
HP:0002597	Abnormality of the vasculature	2120	ETV6	OMIM:616216
HP:0002597	Abnormality of the vasculature	10235	RASGRP2	OMIM:615888
HP:0002597	Abnormality of the vasculature	63915	BLOC1S5	OMIM:619172
HP:0002597	Abnormality of the vasculature	90993	CREB3L1	OMIM:616229
HP:0002597	Abnormality of the vasculature	4627	MYH9	OMIM:155100
HP:0002597	Abnormality of the vasculature	4627	MYH9	ORPHA:182050
HP:0002597	Abnormality of the vasculature	22852	ANKRD26	OMIM:188000
HP:0002597	Abnormality of the vasculature	9509	ADAMTS2	OMIM:225410
HP:0002597	Abnormality of the vasculature	5339	PLEC	OMIM:131950
HP:0002597	Abnormality of the vasculature	11107	PRDM5	OMIM:614170
HP:0002597	Abnormality of the vasculature	11107	PRDM5	ORPHA:90354
HP:0002597	Abnormality of the vasculature	4507	MTAP	OMIM:112250
HP:0002597	Abnormality of the vasculature	5328	PLAU	OMIM:601709
HP:0002597	Abnormality of the vasculature	342618	SLFN14	OMIM:616913
HP:0002597	Abnormality of the vasculature	5566	PRKACA	OMIM:615830
HP:0002597	Abnormality of the vasculature	5566	PRKACA	ORPHA:189439
HP:0002597	Abnormality of the vasculature	8622	PDE8B	ORPHA:189439
HP:0002597	Abnormality of the vasculature	89781	HPS4	OMIM:614073
HP:0002597	Abnormality of the vasculature	11234	HPS5	OMIM:614074
HP:0002597	Abnormality of the vasculature	84343	HPS3	OMIM:614072
HP:0002597	Abnormality of the vasculature	388552	BLOC1S3	OMIM:614077
HP:0002597	Abnormality of the vasculature	5594	MAPK1	OMIM:619087
HP:0002597	Abnormality of the vasculature	200931	SLC51A	OMIM:619484
HP:0002597	Abnormality of the vasculature	84062	DTNBP1	OMIM:614076
HP:0002597	Abnormality of the vasculature	79798	ARMC5	ORPHA:189427
HP:0002597	Abnormality of the vasculature	84627	ZNF469	ORPHA:90354
HP:0002597	Abnormality of the vasculature	23387	SIK3	OMIM:618162
HP:0002597	Abnormality of the vasculature	60681	FKBP10	OMIM:610968
HP:0002597	Abnormality of the vasculature	4914	NTRK1	ORPHA:642
HP:0002597	Abnormality of the vasculature	7036	TFR2	OMIM:604250
HP:0002597	Abnormality of the vasculature	9630	GNA14	ORPHA:1063
HP:0002597	Abnormality of the vasculature	717	C2	OMIM:217000
HP:0002597	Abnormality of the vasculature	3207	HOXA11	OMIM:605432
HP:0002597	Abnormality of the vasculature	3078	CFHR1	OMIM:235400
HP:0002597	Abnormality of the vasculature	10878	CFHR3	OMIM:235400
HP:0002597	Abnormality of the vasculature	80036	TRPM3	OMIM:620224
HP:0002597	Abnormality of the vasculature	9939	RBM8A	OMIM:274000
HP:0002597	Abnormality of the vasculature	11284	PNKP	ORPHA:459033
HP:0002597	Abnormality of the vasculature	1729	DIAPH1	ORPHA:2573
HP:0002597	Abnormality of the vasculature	57674	RNF213	ORPHA:2573
HP:0002597	Abnormality of the vasculature	1294	COL7A1	ORPHA:158673
HP:0002597	Abnormality of the vasculature	6812	STXBP1	ORPHA:495818
HP:0002597	Abnormality of the vasculature	84992	PIGY	ORPHA:247262
HP:0002597	Abnormality of the vasculature	84720	PIGO	ORPHA:247262
HP:0002597	Abnormality of the vasculature	93210	PGAP3	ORPHA:247262
HP:0002597	Abnormality of the vasculature	284098	PIGW	ORPHA:247262
HP:0002597	Abnormality of the vasculature	27315	PGAP2	ORPHA:247262
HP:0002597	Abnormality of the vasculature	55650	PIGV	ORPHA:247262
HP:0002597	Abnormality of the vasculature	57654	UVSSA	OMIM:614640
HP:0002597	Abnormality of the vasculature	4361	MRE11	OMIM:604391
HP:0002597	Abnormality of the vasculature	4126	MANBA	OMIM:248510
HP:0002597	Abnormality of the vasculature	716	C1S	OMIM:617174
HP:0002597	Abnormality of the vasculature	5831	PYCR1	OMIM:612940
HP:0002597	Abnormality of the vasculature	5831	PYCR1	OMIM:614438
HP:0002597	Abnormality of the vasculature	2353	FOS	ORPHA:528
HP:0002597	Abnormality of the vasculature	715	C1R	OMIM:130080
HP:0002597	Abnormality of the vasculature	221496	LEMD2	OMIM:619322
HP:0002597	Abnormality of the vasculature	91252	SLC39A13	OMIM:612350
HP:0002597	Abnormality of the vasculature	84919	PPP1R15B	OMIM:616817
HP:0002597	Abnormality of the vasculature	7424	VEGFC	OMIM:615907
HP:0002597	Abnormality of the vasculature	10262	SF3B4	OMIM:154400
HP:0002597	Abnormality of the vasculature	3119	HLA-DQB1	ORPHA:703
HP:0002597	Abnormality of the vasculature	11005	SPINK5	OMIM:256500
HP:0002597	Abnormality of the vasculature	11005	SPINK5	ORPHA:634
HP:0002597	Abnormality of the vasculature	224	ALDH3A2	ORPHA:816
HP:0002597	Abnormality of the vasculature	6785	ELOVL4	ORPHA:1955
HP:0002597	Abnormality of the vasculature	1369	CPN1	OMIM:212070
HP:0002597	Abnormality of the vasculature	8036	SHOC2	OMIM:607721
HP:0002597	Abnormality of the vasculature	8367	H4C5	OMIM:619950
HP:0002597	Abnormality of the vasculature	23135	KDM6B	OMIM:618505
HP:0002597	Abnormality of the vasculature	64324	NSD1	ORPHA:821
HP:0002597	Abnormality of the vasculature	10297	APC2	ORPHA:821
HP:0002597	Abnormality of the vasculature	28514	DLL1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2253	FGF8	ORPHA:280200
HP:0002597	Abnormality of the vasculature	6496	SIX3	ORPHA:280200
HP:0002597	Abnormality of the vasculature	7050	TGIF1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	6469	SHH	ORPHA:280200
HP:0002597	Abnormality of the vasculature	7546	ZIC2	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2619	GAS1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	84976	DISP1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2736	GLI2	ORPHA:280200
HP:0002597	Abnormality of the vasculature	8928	FOXH1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	5727	PTCH1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	57492	ARID1B	OMIM:135900
HP:0002597	Abnormality of the vasculature	340665	CYP26C1	ORPHA:398189
HP:0002597	Abnormality of the vasculature	23219	FBXO28	OMIM:619777
HP:0002597	Abnormality of the vasculature	2672	GFI1	ORPHA:486
HP:0002597	Abnormality of the vasculature	6729	SRP54	ORPHA:486
HP:0002597	Abnormality of the vasculature	10943	MSL3	OMIM:301032
HP:0002597	Abnormality of the vasculature	54872	PIGG	ORPHA:280
HP:0002597	Abnormality of the vasculature	7469	NELFA	ORPHA:280
HP:0002597	Abnormality of the vasculature	2475	MTOR	ORPHA:457485
HP:0002597	Abnormality of the vasculature	7020	TFAP2A	ORPHA:1297
HP:0002597	Abnormality of the vasculature	657	BMPR1A	ORPHA:79076
HP:0002597	Abnormality of the vasculature	399	RHOH	OMIM:618307
HP:0002597	Abnormality of the vasculature	3785	KCNQ2	ORPHA:439218
HP:0002597	Abnormality of the vasculature	64682	ANAPC1	ORPHA:221008
HP:0002597	Abnormality of the vasculature	9791	PTDSS1	OMIM:151050
HP:0002597	Abnormality of the vasculature	11128	POLR3A	OMIM:264090
HP:0002597	Abnormality of the vasculature	11128	POLR3A	ORPHA:3455
HP:0002597	Abnormality of the vasculature	5604	MAP2K1	ORPHA:1340
HP:0002597	Abnormality of the vasculature	274	BIN1	ORPHA:169189
HP:0002597	Abnormality of the vasculature	64419	MTMR14	ORPHA:169189
HP:0002597	Abnormality of the vasculature	4618	MYF6	ORPHA:169189
HP:0002597	Abnormality of the vasculature	3239	HOXD13	ORPHA:887
HP:0002597	Abnormality of the vasculature	2255	FGF10	ORPHA:2363
HP:0002597	Abnormality of the vasculature	3141	HLCS	ORPHA:79242
HP:0002597	Abnormality of the vasculature	10804	GJB6	ORPHA:477
HP:0002597	Abnormality of the vasculature	2706	GJB2	ORPHA:477
HP:0002597	Abnormality of the vasculature	2706	GJB2	OMIM:148210
HP:0002597	Abnormality of the vasculature	404672	GTF2H5	ORPHA:33364
HP:0002597	Abnormality of the vasculature	7737	RNF113A	ORPHA:33364
HP:0002597	Abnormality of the vasculature	136647	MPLKIP	ORPHA:33364
HP:0002597	Abnormality of the vasculature	136647	MPLKIP	OMIM:234050
HP:0002597	Abnormality of the vasculature	6897	TARS1	ORPHA:33364
HP:0002597	Abnormality of the vasculature	2961	GTF2E2	ORPHA:33364
HP:0002597	Abnormality of the vasculature	1308	COL17A1	ORPHA:293381
HP:0002597	Abnormality of the vasculature	4547	MTTP	ORPHA:14
HP:0002597	Abnormality of the vasculature	2934	GSN	ORPHA:85448
HP:0002597	Abnormality of the vasculature	4081	MAB21L1	OMIM:618479
HP:0002597	Abnormality of the vasculature	84168	ANTXR1	OMIM:230740
HP:0002597	Abnormality of the vasculature	1282	COL4A1	OMIM:180000
HP:0002597	Abnormality of the vasculature	1282	COL4A1	OMIM:611773
HP:0002597	Abnormality of the vasculature	1282	COL4A1	OMIM:175780
HP:0002597	Abnormality of the vasculature	6804	STX1A	ORPHA:904
HP:0002597	Abnormality of the vasculature	7461	CLIP2	ORPHA:904
HP:0002597	Abnormality of the vasculature	84277	DNAJC30	ORPHA:904
HP:0002597	Abnormality of the vasculature	8468	FKBP6	ORPHA:904
HP:0002597	Abnormality of the vasculature	5982	RFC2	ORPHA:904
HP:0002597	Abnormality of the vasculature	2969	GTF2I	ORPHA:904
HP:0002597	Abnormality of the vasculature	3984	LIMK1	ORPHA:904
HP:0002597	Abnormality of the vasculature	9569	GTF2IRD1	ORPHA:904
HP:0002597	Abnormality of the vasculature	155382	VPS37D	ORPHA:904
HP:0002597	Abnormality of the vasculature	155368	METTL27	ORPHA:904
HP:0002597	Abnormality of the vasculature	114049	BUD23	ORPHA:904
HP:0002597	Abnormality of the vasculature	7458	EIF4H	ORPHA:904
HP:0002597	Abnormality of the vasculature	84163	GTF2IRD2	ORPHA:904
HP:0002597	Abnormality of the vasculature	9275	BCL7B	ORPHA:904
HP:0002597	Abnormality of the vasculature	26608	TBL2	ORPHA:904
HP:0002597	Abnormality of the vasculature	653361	NCF1	ORPHA:904
HP:0002597	Abnormality of the vasculature	135886	TMEM270	ORPHA:904
HP:0002597	Abnormality of the vasculature	51085	MLXIPL	ORPHA:904
HP:0002597	Abnormality of the vasculature	51085	MLXIPL	OMIM:194050
HP:0002597	Abnormality of the vasculature	9031	BAZ1B	ORPHA:904
HP:0002597	Abnormality of the vasculature	4508	MT-ATP6	ORPHA:644
HP:0002597	Abnormality of the vasculature	1312	COMT	ORPHA:567
HP:0002597	Abnormality of the vasculature	221037	JMJD1C	ORPHA:567
HP:0002597	Abnormality of the vasculature	2812	GP1BB	ORPHA:567
HP:0002597	Abnormality of the vasculature	6239	RREB1	ORPHA:567
HP:0002597	Abnormality of the vasculature	6899	TBX1	ORPHA:567
HP:0002597	Abnormality of the vasculature	7290	HIRA	ORPHA:567
HP:0002597	Abnormality of the vasculature	9632	SEC24C	ORPHA:567
HP:0002597	Abnormality of the vasculature	7353	UFD1	ORPHA:567
HP:0002597	Abnormality of the vasculature	421	ARVCF	ORPHA:567
HP:0002597	Abnormality of the vasculature	6331	SCN5A	OMIM:614022
HP:0002597	Abnormality of the vasculature	6331	SCN5A	OMIM:601154
HP:0002597	Abnormality of the vasculature	2997	GYS1	OMIM:611556
HP:0002597	Abnormality of the vasculature	9342	SNAP29	ORPHA:66631
HP:0002597	Abnormality of the vasculature	10560	SLC19A2	ORPHA:49827
HP:0002597	Abnormality of the vasculature	10560	SLC19A2	OMIM:249270
HP:0002597	Abnormality of the vasculature	11093	ADAMTS13	OMIM:274150
HP:0002597	Abnormality of the vasculature	50940	PDE11A	ORPHA:1359
HP:0002597	Abnormality of the vasculature	5346	PLIN1	OMIM:613877
HP:0002597	Abnormality of the vasculature	128989	TANGO2	ORPHA:480864
HP:0002597	Abnormality of the vasculature	3291	HSD11B2	ORPHA:320
HP:0002597	Abnormality of the vasculature	4204	MECP2	ORPHA:3077
HP:0002597	Abnormality of the vasculature	80206	FHOD3	OMIM:619402
HP:0002597	Abnormality of the vasculature	28976	ACAD9	OMIM:611126
HP:0002597	Abnormality of the vasculature	4846	NOS3	OMIM:601367
HP:0002597	Abnormality of the vasculature	5583	PRKCH	OMIM:601367
HP:0002597	Abnormality of the vasculature	241	ALOX5AP	OMIM:601367
HP:0002597	Abnormality of the vasculature	445	ASS1	OMIM:215700
HP:0002597	Abnormality of the vasculature	1373	CPS1	OMIM:237300
HP:0002597	Abnormality of the vasculature	25978	CHMP2B	ORPHA:100070
HP:0002597	Abnormality of the vasculature	5663	PSEN1	ORPHA:100070
HP:0002597	Abnormality of the vasculature	2896	GRN	ORPHA:100070
HP:0002597	Abnormality of the vasculature	54664	TMEM106B	ORPHA:100070
HP:0002597	Abnormality of the vasculature	54209	TREM2	ORPHA:100070
HP:0002597	Abnormality of the vasculature	7415	VCP	ORPHA:100070
HP:0002597	Abnormality of the vasculature	1471	CST3	OMIM:105150
HP:0002597	Abnormality of the vasculature	1471	CST3	ORPHA:100008
HP:0002597	Abnormality of the vasculature	10019	SH2B3	OMIM:133100
HP:0002597	Abnormality of the vasculature	2057	EPOR	OMIM:133100
HP:0002597	Abnormality of the vasculature	2677	GGCX	OMIM:277450
HP:0002597	Abnormality of the vasculature	4771	NF2	ORPHA:2495
HP:0002597	Abnormality of the vasculature	6598	SMARCB1	ORPHA:2495
HP:0002597	Abnormality of the vasculature	6608	SMO	ORPHA:2495
HP:0002597	Abnormality of the vasculature	51684	SUFU	ORPHA:2495
HP:0002597	Abnormality of the vasculature	6605	SMARCE1	ORPHA:2495
HP:0002597	Abnormality of the vasculature	2335	FN1	ORPHA:84090
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:324713
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:324703
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:324708
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:100006
HP:0002597	Abnormality of the vasculature	3075	CFH	ORPHA:244242
HP:0002597	Abnormality of the vasculature	3426	CFI	ORPHA:244242
HP:0002597	Abnormality of the vasculature	4179	CD46	ORPHA:244242
HP:0002597	Abnormality of the vasculature	101101692	HELLPAR	ORPHA:244242
HP:0002597	Abnormality of the vasculature	442721	LMOD2	OMIM:619897
HP:0002597	Abnormality of the vasculature	11274	USP18	OMIM:617397
HP:0002597	Abnormality of the vasculature	727676	SNORD118	ORPHA:542310
HP:0002597	Abnormality of the vasculature	6773	STAT2	OMIM:618886
HP:0002597	Abnormality of the vasculature	79184	BRCC3	ORPHA:280679
HP:0002597	Abnormality of the vasculature	1788	DNMT3A	ORPHA:276621
HP:0002597	Abnormality of the vasculature	2034	EPAS1	ORPHA:276621
HP:0002597	Abnormality of the vasculature	9103	FCGR2C	ORPHA:3002
HP:0002597	Abnormality of the vasculature	72	ACTG2	OMIM:619431
HP:0002597	Abnormality of the vasculature	9414	TJP2	OMIM:615878
HP:0002597	Abnormality of the vasculature	50674	NEUROG3	ORPHA:83620
HP:0002597	Abnormality of the vasculature	23729	SHPK	ORPHA:440713
HP:0002597	Abnormality of the vasculature	113220	KIF12	OMIM:619662
HP:0002597	Abnormality of the vasculature	3071	NCKAP1L	OMIM:618982
HP:0002597	Abnormality of the vasculature	10466	COG5	ORPHA:263487
HP:0002597	Abnormality of the vasculature	2632	GBE1	OMIM:232500
HP:0002597	Abnormality of the vasculature	55823	VPS11	ORPHA:466934
HP:0002597	Abnormality of the vasculature	79722	ANKRD55	ORPHA:85408
HP:0002597	Abnormality of the vasculature	919	CD247	ORPHA:85408
HP:0002597	Abnormality of the vasculature	919	CD247	ORPHA:169160
HP:0002597	Abnormality of the vasculature	5771	PTPN2	ORPHA:85408
HP:0002597	Abnormality of the vasculature	3716	JAK1	OMIM:618999
HP:0002597	Abnormality of the vasculature	2122	MECOM	OMIM:616738
HP:0002597	Abnormality of the vasculature	2212	FCGR2A	OMIM:219700
HP:0002597	Abnormality of the vasculature	1080	CFTR	OMIM:219700
HP:0002597	Abnormality of the vasculature	915	CD3D	ORPHA:169160
HP:0002597	Abnormality of the vasculature	916	CD3E	ORPHA:169160
HP:0002597	Abnormality of the vasculature	1777	DNASE2	OMIM:619858
HP:0002597	Abnormality of the vasculature	3376	IARS1	ORPHA:541423
HP:0002597	Abnormality of the vasculature	26154	ABCA12	OMIM:601277
HP:0002597	Abnormality of the vasculature	285282	RABL3	ORPHA:1333
HP:0002597	Abnormality of the vasculature	23022	PALLD	ORPHA:1333
HP:0002597	Abnormality of the vasculature	2584	GALK1	ORPHA:79237
HP:0002597	Abnormality of the vasculature	9051	PSTPIP1	OMIM:604416
HP:0002597	Abnormality of the vasculature	970	CD70	OMIM:618261
HP:0002597	Abnormality of the vasculature	374354	NHLRC2	OMIM:618278
HP:0002597	Abnormality of the vasculature	57169	ZNFX1	OMIM:619644
HP:0002597	Abnormality of the vasculature	10165	SLC25A13	ORPHA:247598
HP:0002597	Abnormality of the vasculature	9371	KIF3B	OMIM:618955
HP:0002597	Abnormality of the vasculature	2729	GCLC	ORPHA:33574
HP:0002597	Abnormality of the vasculature	7841	MOGS	ORPHA:79330
HP:0002597	Abnormality of the vasculature	7030	TFE3	OMIM:301066
HP:0002597	Abnormality of the vasculature	2193	FARSA	OMIM:619013
HP:0002597	Abnormality of the vasculature	5194	PEX13	OMIM:614885
HP:0002597	Abnormality of the vasculature	1513	CTSK	ORPHA:763
HP:0002597	Abnormality of the vasculature	6006	RHCE	ORPHA:71275
HP:0002597	Abnormality of the vasculature	7355	SLC35A2	ORPHA:356961
HP:0002597	Abnormality of the vasculature	23414	ZFPM2	ORPHA:3303
HP:0002597	Abnormality of the vasculature	23414	ZFPM2	OMIM:187500
HP:0002597	Abnormality of the vasculature	8443	GNPAT	OMIM:222765
HP:0002597	Abnormality of the vasculature	26275	HIBCH	ORPHA:88639
HP:0002597	Abnormality of the vasculature	26275	HIBCH	OMIM:250620
HP:0002597	Abnormality of the vasculature	29998	BICRA	OMIM:619325
HP:0002597	Abnormality of the vasculature	83479	DDX59	OMIM:174300
HP:0002597	Abnormality of the vasculature	83479	DDX59	ORPHA:2919
HP:0002597	Abnormality of the vasculature	1147	CHUK	OMIM:613630
HP:0002597	Abnormality of the vasculature	8092	ALX1	ORPHA:306542
HP:0002597	Abnormality of the vasculature	3579	CXCR2	OMIM:619407
HP:0002597	Abnormality of the vasculature	10084	PQBP1	OMIM:309500
HP:0002597	Abnormality of the vasculature	257	ALX3	OMIM:136760
HP:0002597	Abnormality of the vasculature	27152	INTU	OMIM:617925
HP:0002597	Abnormality of the vasculature	27152	INTU	OMIM:617926
HP:0002597	Abnormality of the vasculature	51126	NAA20	OMIM:619717
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	OMIM:169100
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	ORPHA:46627
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	OMIM:617035
HP:0002597	Abnormality of the vasculature	1131	CHRM3	ORPHA:2970
HP:0002597	Abnormality of the vasculature	1131	CHRM3	OMIM:100100
HP:0002597	Abnormality of the vasculature	9578	CDC42BPB	OMIM:619841
HP:0002597	Abnormality of the vasculature	8942	KYNU	OMIM:617661
HP:0002597	Abnormality of the vasculature	55790	CSGALNACT1	OMIM:618870
HP:0002597	Abnormality of the vasculature	55690	PACS1	OMIM:615009
HP:0002597	Abnormality of the vasculature	55690	PACS1	ORPHA:329224
HP:0002597	Abnormality of the vasculature	9200	HACD1	OMIM:619967
HP:0002597	Abnormality of the vasculature	3764	KCNJ8	ORPHA:1517
HP:0002597	Abnormality of the vasculature	5189	PEX1	OMIM:214100
HP:0002597	Abnormality of the vasculature	25885	POLR1A	OMIM:616462
HP:0002597	Abnormality of the vasculature	8726	EED	OMIM:617561
HP:0002597	Abnormality of the vasculature	203286	ANKS6	OMIM:615382
HP:0002597	Abnormality of the vasculature	22884	WDR37	OMIM:618652
HP:0002597	Abnormality of the vasculature	57178	ZMIZ1	OMIM:618659
HP:0002597	Abnormality of the vasculature	8550	MAPKAPK5	OMIM:619869
HP:0002597	Abnormality of the vasculature	5950	RBP4	OMIM:615147
HP:0002597	Abnormality of the vasculature	81794	ADAMTS10	OMIM:277600
HP:0002597	Abnormality of the vasculature	3476	IGBP1	ORPHA:52055
HP:0002597	Abnormality of the vasculature	3476	IGBP1	OMIM:300472
HP:0002597	Abnormality of the vasculature	51604	PIGT	OMIM:615398
HP:0002597	Abnormality of the vasculature	51604	PIGT	ORPHA:369837
HP:0002597	Abnormality of the vasculature	23126	POGZ	OMIM:616364
HP:0002597	Abnormality of the vasculature	3481	IGF2	OMIM:616489
HP:0002597	Abnormality of the vasculature	57863	CADM3	OMIM:619519
HP:0002597	Abnormality of the vasculature	1859	DYRK1A	ORPHA:464311
HP:0002597	Abnormality of the vasculature	7750	ZMYM2	OMIM:619522
HP:0002597	Abnormality of the vasculature	79971	WLS	OMIM:619648
HP:0002597	Abnormality of the vasculature	79087	ALG12	ORPHA:79324
HP:0002597	Abnormality of the vasculature	79087	ALG12	OMIM:607143
HP:0002597	Abnormality of the vasculature	51117	COQ4	OMIM:616276
HP:0002597	Abnormality of the vasculature	1523	CUX1	OMIM:618330
HP:0002597	Abnormality of the vasculature	27429	HTRA2	OMIM:617248
HP:0002597	Abnormality of the vasculature	9949	AMMECR1	OMIM:300990
HP:0002597	Abnormality of the vasculature	9949	AMMECR1	ORPHA:86818
HP:0002597	Abnormality of the vasculature	10102	TSFM	OMIM:610505
HP:0002597	Abnormality of the vasculature	2530	FUT8	OMIM:618005
HP:0002597	Abnormality of the vasculature	93166	PRDM6	OMIM:617039
HP:0002597	Abnormality of the vasculature	1760	DMPK	ORPHA:589821
HP:0002597	Abnormality of the vasculature	4990	SIX6	OMIM:206900
HP:0002597	Abnormality of the vasculature	6657	SOX2	OMIM:206900
HP:0002597	Abnormality of the vasculature	6657	SOX2	ORPHA:77298
HP:0002597	Abnormality of the vasculature	9321	TRIP11	ORPHA:166272
HP:0002597	Abnormality of the vasculature	57061	HYMAI	ORPHA:96191
HP:0002597	Abnormality of the vasculature	5325	PLAGL1	ORPHA:96191
HP:0002597	Abnormality of the vasculature	348180	CTU2	OMIM:618142
HP:0002597	Abnormality of the vasculature	26005	C2CD3	ORPHA:434179
HP:0002597	Abnormality of the vasculature	26005	C2CD3	OMIM:615948
HP:0002597	Abnormality of the vasculature	84172	POLR1B	ORPHA:861
HP:0002597	Abnormality of the vasculature	9533	POLR1C	ORPHA:861
HP:0002597	Abnormality of the vasculature	51082	POLR1D	ORPHA:861
HP:0002597	Abnormality of the vasculature	6949	TCOF1	ORPHA:861
HP:0002597	Abnormality of the vasculature	7204	TRIO	OMIM:617061
HP:0002597	Abnormality of the vasculature	4841	NONO	OMIM:300967
HP:0002597	Abnormality of the vasculature	4841	NONO	ORPHA:466791
HP:0002597	Abnormality of the vasculature	8239	USP9X	OMIM:300968
HP:0002597	Abnormality of the vasculature	8239	USP9X	ORPHA:480880
HP:0002597	Abnormality of the vasculature	6299	SALL1	ORPHA:857
HP:0002597	Abnormality of the vasculature	51339	DACT1	ORPHA:857
HP:0002597	Abnormality of the vasculature	55252	ASXL2	OMIM:617190
HP:0002597	Abnormality of the vasculature	6748	SSR4	ORPHA:370927
HP:0002597	Abnormality of the vasculature	23522	KAT6B	ORPHA:3047
HP:0002597	Abnormality of the vasculature	27161	AGO2	OMIM:619149
HP:0002597	Abnormality of the vasculature	51506	UFC1	OMIM:618076
HP:0002597	Abnormality of the vasculature	1889	ECE1	OMIM:613870
HP:0002597	Abnormality of the vasculature	132158	GLYCTK	OMIM:220120
HP:0002597	Abnormality of the vasculature	55148	UBR7	OMIM:619189
HP:0002597	Abnormality of the vasculature	51021	MRPS16	OMIM:610498
HP:0002597	Abnormality of the vasculature	79053	ALG8	OMIM:608104
HP:0002597	Abnormality of the vasculature	54499	TMCO1	OMIM:213980
HP:0002597	Abnormality of the vasculature	23137	SMC5	OMIM:620185
HP:0002597	Abnormality of the vasculature	79228	THOC6	ORPHA:363444
HP:0002597	Abnormality of the vasculature	79228	THOC6	OMIM:613680
HP:0002597	Abnormality of the vasculature	4094	MAF	ORPHA:1272
HP:0002597	Abnormality of the vasculature	2146	EZH2	OMIM:277590
HP:0002597	Abnormality of the vasculature	8195	MKKS	ORPHA:2473
HP:0002597	Abnormality of the vasculature	11020	IFT27	OMIM:615996
HP:0002597	Abnormality of the vasculature	85358	SHANK3	OMIM:606232
HP:0002597	Abnormality of the vasculature	1837	DTNA	OMIM:604169
HP:0002597	Abnormality of the vasculature	113179	ADAT3	ORPHA:363528
HP:0002597	Abnormality of the vasculature	4297	KMT2A	OMIM:605130
HP:0002597	Abnormality of the vasculature	388753	COA6	OMIM:616501
HP:0002597	Abnormality of the vasculature	6659	SOX4	ORPHA:1465
HP:0002597	Abnormality of the vasculature	8289	ARID1A	ORPHA:1465
HP:0002597	Abnormality of the vasculature	5977	DPF2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6601	SMARCC2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6602	SMARCD1	ORPHA:1465
HP:0002597	Abnormality of the vasculature	196528	ARID2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6664	SOX11	ORPHA:1465
HP:0002597	Abnormality of the vasculature	51008	ASCC1	OMIM:616867
HP:0002597	Abnormality of the vasculature	9325	TRIP4	OMIM:616866
HP:0002597	Abnormality of the vasculature	6638	SNRPN	ORPHA:177907
HP:0002597	Abnormality of the vasculature	59336	PRDM13	OMIM:619909
HP:0002597	Abnormality of the vasculature	6628	SNRPB	OMIM:117650
HP:0002597	Abnormality of the vasculature	23630	KCNE5	ORPHA:86818
HP:0002597	Abnormality of the vasculature	2182	ACSL4	ORPHA:86818
HP:0002597	Abnormality of the vasculature	93649	MYOCD	OMIM:618719
HP:0002597	Abnormality of the vasculature	5331	PLCB3	OMIM:618961
HP:0002597	Abnormality of the vasculature	153241	CEP120	OMIM:616300
HP:0002597	Abnormality of the vasculature	5879	RAC1	OMIM:617751
HP:0002597	Abnormality of the vasculature	5879	RAC1	ORPHA:500159
HP:0002597	Abnormality of the vasculature	9757	KMT2B	OMIM:619934
HP:0002597	Abnormality of the vasculature	84148	KAT8	OMIM:618974
HP:0002597	Abnormality of the vasculature	23389	MED13L	OMIM:616789
HP:0002597	Abnormality of the vasculature	2218	FKTN	OMIM:253800
HP:0002597	Abnormality of the vasculature	54870	QRICH1	OMIM:617982
HP:0002597	Abnormality of the vasculature	26227	PHGDH	OMIM:256520
HP:0002597	Abnormality of the vasculature	336	APOA2	OMIM:143890
HP:0002597	Abnormality of the vasculature	2053	EPHX2	OMIM:143890
HP:0002597	Abnormality of the vasculature	10842	PPP1R17	OMIM:143890
HP:0002597	Abnormality of the vasculature	2690	GHR	OMIM:143890
HP:0002597	Abnormality of the vasculature	2099	ESR1	ORPHA:785
HP:0002597	Abnormality of the vasculature	57592	ZNF687	OMIM:616833
HP:0002597	Abnormality of the vasculature	9759	HDAC4	ORPHA:1001
HP:0002597	Abnormality of the vasculature	64359	NXN	ORPHA:1507
HP:0002597	Abnormality of the vasculature	4920	ROR2	ORPHA:1507
HP:0002597	Abnormality of the vasculature	1024	CDK8	OMIM:618748
HP:0002597	Abnormality of the vasculature	132	ADK	OMIM:614300
HP:0002597	Abnormality of the vasculature	7707	ZNF148	OMIM:617260
HP:0002597	Abnormality of the vasculature	89910	UBE3B	OMIM:244450
HP:0002597	Abnormality of the vasculature	7403	KDM6A	ORPHA:2322
HP:0002597	Abnormality of the vasculature	7403	KDM6A	OMIM:300867
HP:0002597	Abnormality of the vasculature	7403	KDM6A	OMIM:147920
HP:0002597	Abnormality of the vasculature	146862	UNC45B	OMIM:619178
HP:0002597	Abnormality of the vasculature	1108	CHD4	OMIM:617159
HP:0002597	Abnormality of the vasculature	7026	NR2F2	OMIM:615779
HP:0002597	Abnormality of the vasculature	51057	WDPCP	OMIM:217085
HP:0002597	Abnormality of the vasculature	1000	CDH2	OMIM:618929
HP:0002597	Abnormality of the vasculature	9184	BUB3	ORPHA:1052
HP:0002597	Abnormality of the vasculature	699	BUB1	ORPHA:1052
HP:0002597	Abnormality of the vasculature	9702	CEP57	ORPHA:1052
HP:0002597	Abnormality of the vasculature	9702	CEP57	OMIM:614114
HP:0002597	Abnormality of the vasculature	9319	TRIP13	ORPHA:1052
HP:0002597	Abnormality of the vasculature	701	BUB1B	ORPHA:1052
HP:0002597	Abnormality of the vasculature	4212	MEIS2	OMIM:600987
HP:0002597	Abnormality of the vasculature	139285	AMER1	ORPHA:2780
HP:0002597	Abnormality of the vasculature	55644	OSGEP	OMIM:617729
HP:0002597	Abnormality of the vasculature	2313	FLI1	ORPHA:2308
HP:0002597	Abnormality of the vasculature	65250	CPLANE1	OMIM:277170
HP:0002597	Abnormality of the vasculature	83475	DOHH	OMIM:620066
HP:0002597	Abnormality of the vasculature	6491	STIL	ORPHA:280195
HP:0002597	Abnormality of the vasculature	51322	WAC	ORPHA:284169
HP:0002597	Abnormality of the vasculature	6595	SMARCA2	OMIM:601358
HP:0002597	Abnormality of the vasculature	6736	SRY	ORPHA:1772
HP:0002597	Abnormality of the vasculature	79813	EHMT1	OMIM:610253
HP:0002597	Abnormality of the vasculature	79813	EHMT1	ORPHA:96147
HP:0002597	Abnormality of the vasculature	3081	HGD	ORPHA:56
HP:0002597	Abnormality of the vasculature	3081	HGD	OMIM:203500
HP:0002597	Abnormality of the vasculature	9897	WASHC5	OMIM:220210
HP:0002597	Abnormality of the vasculature	10735	STAG2	OMIM:301043
HP:0002597	Abnormality of the vasculature	23007	PLCH1	OMIM:619895
HP:0002597	Abnormality of the vasculature	84231	TRAF7	OMIM:618164
HP:0002597	Abnormality of the vasculature	5824	PEX19	OMIM:614886
HP:0002597	Abnormality of the vasculature	55191	NADSYN1	OMIM:618845
HP:0002597	Abnormality of the vasculature	4838	NODAL	OMIM:270100
HP:0002597	Abnormality of the vasculature	9451	EIF2AK3	ORPHA:1667
HP:0002597	Abnormality of the vasculature	55593	OTUD5	OMIM:301056
HP:0002597	Abnormality of the vasculature	4313	MMP2	ORPHA:371428
HP:0002597	Abnormality of the vasculature	4323	MMP14	ORPHA:371428
HP:0002597	Abnormality of the vasculature	54880	BCOR	OMIM:300166
HP:0002597	Abnormality of the vasculature	285590	SH3PXD2B	OMIM:249420
HP:0002597	Abnormality of the vasculature	9772	TMEM94	OMIM:618316
HP:0002597	Abnormality of the vasculature	55997	CFC1	OMIM:605376
HP:0002597	Abnormality of the vasculature	5053	PAH	ORPHA:2209
HP:0002597	Abnormality of the vasculature	4609	MYC	ORPHA:543
HP:0002597	Abnormality of the vasculature	8091	HMGA2	ORPHA:94063
HP:0002597	Abnormality of the vasculature	23592	LEMD3	ORPHA:94063
HP:0002597	Abnormality of the vasculature	1497	CTNS	OMIM:219800
HP:0002597	Abnormality of the vasculature	7293	TNFRSF4	OMIM:615593
HP:0002597	Abnormality of the vasculature	8573	CASK	OMIM:300908
HP:0002597	Abnormality of the vasculature	2539	G6PD	OMIM:300908
HP:0002597	Abnormality of the vasculature	55240	STEAP3	OMIM:615234
HP:0002597	Abnormality of the vasculature	755	CFAP410	OMIM:602271
HP:0002597	Abnormality of the vasculature	148738	HJV	OMIM:602390
HP:0002597	Abnormality of the vasculature	80270	HSD3B7	ORPHA:79301
HP:0002597	Abnormality of the vasculature	80270	HSD3B7	OMIM:607765
HP:0002597	Abnormality of the vasculature	939	CD27	OMIM:615122
HP:0002597	Abnormality of the vasculature	84433	CARD11	OMIM:616452
HP:0002597	Abnormality of the vasculature	84936	ZFYVE19	OMIM:619849
HP:0002597	Abnormality of the vasculature	51473	DCDC2	OMIM:616217
HP:0002597	Abnormality of the vasculature	51473	DCDC2	OMIM:617394
HP:0002597	Abnormality of the vasculature	55768	NGLY1	ORPHA:404454
HP:0002597	Abnormality of the vasculature	79158	GNPTAB	OMIM:252500
HP:0002597	Abnormality of the vasculature	79158	GNPTAB	ORPHA:576
HP:0002597	Abnormality of the vasculature	60561	RINT1	OMIM:618641
HP:0002597	Abnormality of the vasculature	2859	GPR35	ORPHA:171
HP:0002597	Abnormality of the vasculature	10507	SEMA4D	ORPHA:171
HP:0002597	Abnormality of the vasculature	4485	MST1	ORPHA:171
HP:0002597	Abnormality of the vasculature	6925	TCF4	ORPHA:171
HP:0002597	Abnormality of the vasculature	103	ADAR	OMIM:615010
HP:0002597	Abnormality of the vasculature	1716	DGUOK	OMIM:251880
HP:0002597	Abnormality of the vasculature	1716	DGUOK	OMIM:617068
HP:0002597	Abnormality of the vasculature	1441	CSF3R	OMIM:162830
HP:0002597	Abnormality of the vasculature	2035	EPB41	ORPHA:288
HP:0002597	Abnormality of the vasculature	2035	EPB41	OMIM:611804
HP:0002597	Abnormality of the vasculature	2995	GYPC	ORPHA:288
HP:0002597	Abnormality of the vasculature	6710	SPTB	ORPHA:288
HP:0002597	Abnormality of the vasculature	6710	SPTB	ORPHA:822
HP:0002597	Abnormality of the vasculature	6710	SPTB	OMIM:616649
HP:0002597	Abnormality of the vasculature	6708	SPTA1	ORPHA:288
HP:0002597	Abnormality of the vasculature	6708	SPTA1	ORPHA:822
HP:0002597	Abnormality of the vasculature	1130	LYST	ORPHA:167
HP:0002597	Abnormality of the vasculature	1130	LYST	OMIM:214500
HP:0002597	Abnormality of the vasculature	57231	SNX14	OMIM:616354
HP:0002597	Abnormality of the vasculature	28755	TRAC	OMIM:615387
HP:0002597	Abnormality of the vasculature	1371	CPOX	OMIM:618892
HP:0002597	Abnormality of the vasculature	1371	CPOX	OMIM:121300
HP:0002597	Abnormality of the vasculature	80739	MPIG6B	OMIM:617441
HP:0002597	Abnormality of the vasculature	4645	MYO5B	OMIM:619868
HP:0002597	Abnormality of the vasculature	3039	HBA1	ORPHA:163596
HP:0002597	Abnormality of the vasculature	3039	HBA1	OMIM:613978
HP:0002597	Abnormality of the vasculature	3040	HBA2	ORPHA:163596
HP:0002597	Abnormality of the vasculature	3040	HBA2	OMIM:613978
HP:0002597	Abnormality of the vasculature	5295	PIK3R1	OMIM:616005
HP:0002597	Abnormality of the vasculature	286	ANK1	ORPHA:251066
HP:0002597	Abnormality of the vasculature	286	ANK1	OMIM:182900
HP:0002597	Abnormality of the vasculature	286	ANK1	ORPHA:822
HP:0002597	Abnormality of the vasculature	285362	SUMF1	OMIM:272200
HP:0002597	Abnormality of the vasculature	285362	SUMF1	ORPHA:585
HP:0002597	Abnormality of the vasculature	2990	GUSB	ORPHA:584
HP:0002597	Abnormality of the vasculature	2990	GUSB	OMIM:253220
HP:0002597	Abnormality of the vasculature	5244	ABCB4	OMIM:602347
HP:0002597	Abnormality of the vasculature	11311	VPS45	OMIM:615285
HP:0002597	Abnormality of the vasculature	540	ATP7B	OMIM:277900
HP:0002597	Abnormality of the vasculature	540	ATP7B	ORPHA:905
HP:0002597	Abnormality of the vasculature	2683	B4GALT1	ORPHA:79332
HP:0002597	Abnormality of the vasculature	5692	PSMB4	OMIM:617591
HP:0002597	Abnormality of the vasculature	5698	PSMB9	OMIM:617591
HP:0002597	Abnormality of the vasculature	5286	PIK3C2A	OMIM:618440
HP:0002597	Abnormality of the vasculature	654	BMP6	ORPHA:465508
HP:0002597	Abnormality of the vasculature	3077	HFE	ORPHA:465508
HP:0002597	Abnormality of the vasculature	3077	HFE	OMIM:235200
HP:0002597	Abnormality of the vasculature	54532	USP53	OMIM:619658
HP:0002597	Abnormality of the vasculature	2184	FAH	OMIM:276700
HP:0002597	Abnormality of the vasculature	2184	FAH	ORPHA:882
HP:0002597	Abnormality of the vasculature	51311	TLR8	OMIM:301078
HP:0002597	Abnormality of the vasculature	5825	ABCD3	OMIM:616278
HP:0002597	Abnormality of the vasculature	5256	PHKA2	ORPHA:264580
HP:0002597	Abnormality of the vasculature	5256	PHKA2	OMIM:306000
HP:0002597	Abnormality of the vasculature	5261	PHKG2	ORPHA:264580
HP:0002597	Abnormality of the vasculature	5261	PHKG2	OMIM:613027
HP:0002597	Abnormality of the vasculature	846	CASR	OMIM:239200
HP:0002597	Abnormality of the vasculature	846	CASR	ORPHA:417
HP:0002597	Abnormality of the vasculature	4594	MMUT	ORPHA:79312
HP:0002597	Abnormality of the vasculature	65992	DDRGK1	OMIM:602557
HP:0002597	Abnormality of the vasculature	6448	SGSH	OMIM:252900
HP:0002597	Abnormality of the vasculature	22806	IKZF3	OMIM:619437
HP:0002597	Abnormality of the vasculature	9842	PLEKHM1	OMIM:618107
HP:0002597	Abnormality of the vasculature	6916	TBXAS1	ORPHA:1802
HP:0002597	Abnormality of the vasculature	959	CD40LG	OMIM:308230
HP:0002597	Abnormality of the vasculature	23451	SF3B1	ORPHA:75564
HP:0002597	Abnormality of the vasculature	5009	OTC	ORPHA:664
HP:0002597	Abnormality of the vasculature	7372	UMPS	ORPHA:30
HP:0002597	Abnormality of the vasculature	58484	NLRC4	OMIM:616050
HP:0002597	Abnormality of the vasculature	22861	NLRP1	OMIM:617388
HP:0002597	Abnormality of the vasculature	55503	TRPV6	ORPHA:417
HP:0002597	Abnormality of the vasculature	23218	NBEAL2	OMIM:139090
HP:0002597	Abnormality of the vasculature	23218	NBEAL2	ORPHA:721
HP:0002597	Abnormality of the vasculature	4125	MAN2B1	OMIM:248500
HP:0002597	Abnormality of the vasculature	6718	AKR1D1	OMIM:235555
HP:0002597	Abnormality of the vasculature	4864	NPC1	OMIM:257220
HP:0002597	Abnormality of the vasculature	7389	UROD	ORPHA:95159
HP:0002597	Abnormality of the vasculature	212	ALAS2	ORPHA:75563
HP:0002597	Abnormality of the vasculature	6007	RHD	OMIM:619462
HP:0002597	Abnormality of the vasculature	3560	IL2RB	OMIM:618495
HP:0002597	Abnormality of the vasculature	8883	NAE1	OMIM:620210
HP:0002597	Abnormality of the vasculature	84701	COX4I2	OMIM:612714
HP:0002597	Abnormality of the vasculature	650	BMP2	OMIM:235200
HP:0002597	Abnormality of the vasculature	8943	AP3D1	OMIM:617050
HP:0002597	Abnormality of the vasculature	57003	CCDC47	OMIM:618268
HP:0002597	Abnormality of the vasculature	51095	TRNT1	OMIM:616084
HP:0002597	Abnormality of the vasculature	83706	FERMT3	OMIM:612840
HP:0002597	Abnormality of the vasculature	9420	CYP7B1	OMIM:613812
HP:0002597	Abnormality of the vasculature	6023	RMRP	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3575	IL7R	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3575	IL7R	OMIM:608971
HP:0002597	Abnormality of the vasculature	3561	IL2RG	ORPHA:39041
HP:0002597	Abnormality of the vasculature	84868	HAVCR2	OMIM:618398
HP:0002597	Abnormality of the vasculature	7504	XK	OMIM:300842
HP:0002597	Abnormality of the vasculature	60468	BACH2	OMIM:618394
HP:0002597	Abnormality of the vasculature	226	ALDOA	OMIM:611881
HP:0002597	Abnormality of the vasculature	3557	IL1RN	OMIM:612852
HP:0002597	Abnormality of the vasculature	91662	NLRP12	OMIM:611762
HP:0002597	Abnormality of the vasculature	2799	GNS	OMIM:252940
HP:0002597	Abnormality of the vasculature	5264	PHYH	ORPHA:773
HP:0002597	Abnormality of the vasculature	5191	PEX7	ORPHA:773
HP:0002597	Abnormality of the vasculature	940	CD28	ORPHA:3162
HP:0002597	Abnormality of the vasculature	940	CD28	ORPHA:2584
HP:0002597	Abnormality of the vasculature	7133	TNFRSF1B	ORPHA:3162
HP:0002597	Abnormality of the vasculature	7133	TNFRSF1B	ORPHA:2584
HP:0002597	Abnormality of the vasculature	7390	UROS	OMIM:263700
HP:0002597	Abnormality of the vasculature	7390	UROS	ORPHA:79277
HP:0002597	Abnormality of the vasculature	4938	OAS1	OMIM:618042
HP:0002597	Abnormality of the vasculature	8651	SOCS1	OMIM:619375
HP:0002597	Abnormality of the vasculature	3295	HSD17B4	OMIM:261515
HP:0002597	Abnormality of the vasculature	138050	HGSNAT	OMIM:252930
HP:0002597	Abnormality of the vasculature	5313	PKLR	ORPHA:766
HP:0002597	Abnormality of the vasculature	5313	PKLR	OMIM:266200
HP:0002597	Abnormality of the vasculature	6850	SYK	OMIM:619381
HP:0002597	Abnormality of the vasculature	613	BCR	ORPHA:521
HP:0002597	Abnormality of the vasculature	51626	DYNC2LI1	OMIM:617088
HP:0002597	Abnormality of the vasculature	5257	PHKB	OMIM:261750
HP:0002597	Abnormality of the vasculature	5257	PHKB	ORPHA:79240
HP:0002597	Abnormality of the vasculature	146059	CDAN1	OMIM:224120
HP:0002597	Abnormality of the vasculature	9652	SKIC3	ORPHA:84064
HP:0002597	Abnormality of the vasculature	9652	SKIC3	OMIM:222470
HP:0002597	Abnormality of the vasculature	6499	SKIC2	ORPHA:84064
HP:0002597	Abnormality of the vasculature	10535	RNASEH2A	OMIM:610333
HP:0002597	Abnormality of the vasculature	5696	PSMB8	OMIM:256040
HP:0002597	Abnormality of the vasculature	4669	NAGLU	OMIM:252920
HP:0002597	Abnormality of the vasculature	26276	VPS33B	OMIM:620010
HP:0002597	Abnormality of the vasculature	144811	LACC1	ORPHA:85414
HP:0002597	Abnormality of the vasculature	4282	MIF	ORPHA:85414
HP:0002597	Abnormality of the vasculature	55532	SLC30A10	ORPHA:309854
HP:0002597	Abnormality of the vasculature	987	LRBA	OMIM:614700
HP:0002597	Abnormality of the vasculature	7174	TPP2	ORPHA:444463
HP:0002597	Abnormality of the vasculature	2038	EPB42	ORPHA:822
HP:0002597	Abnormality of the vasculature	2038	EPB42	OMIM:612690
HP:0002597	Abnormality of the vasculature	23149	FCHO1	OMIM:619164
HP:0002597	Abnormality of the vasculature	1352	COX10	OMIM:619046
HP:0002597	Abnormality of the vasculature	841	CASP8	OMIM:607271
HP:0002597	Abnormality of the vasculature	8647	ABCB11	OMIM:601847
HP:0002597	Abnormality of the vasculature	5699	PSMB10	OMIM:619175
HP:0002597	Abnormality of the vasculature	686	BTD	OMIM:253260
HP:0002597	Abnormality of the vasculature	8792	TNFRSF11A	OMIM:612301
HP:0002597	Abnormality of the vasculature	8546	AP3B1	OMIM:608233
HP:0002597	Abnormality of the vasculature	10555	AGPAT2	OMIM:608594
HP:0002597	Abnormality of the vasculature	56984	PSMG2	OMIM:619183
HP:0002597	Abnormality of the vasculature	1717	DHCR7	OMIM:270400
HP:0002597	Abnormality of the vasculature	23230	VPS13A	ORPHA:2388
HP:0002597	Abnormality of the vasculature	3782	KCNN3	ORPHA:3473
HP:0002597	Abnormality of the vasculature	175	AGA	ORPHA:93
HP:0002597	Abnormality of the vasculature	4853	NOTCH2	ORPHA:955
HP:0002597	Abnormality of the vasculature	80216	ALPK1	OMIM:614979
HP:0002597	Abnormality of the vasculature	4069	LYZ	OMIM:105200
HP:0002597	Abnormality of the vasculature	567	B2M	OMIM:105200
HP:0002597	Abnormality of the vasculature	5828	PEX2	OMIM:614866
HP:0002597	Abnormality of the vasculature	2624	GATA2	ORPHA:3226
HP:0002597	Abnormality of the vasculature	8813	DPM1	OMIM:608799
HP:0002597	Abnormality of the vasculature	50943	FOXP3	ORPHA:37042
HP:0002597	Abnormality of the vasculature	57817	HAMP	OMIM:613313
HP:0002597	Abnormality of the vasculature	84317	CCDC115	OMIM:616828
HP:0002597	Abnormality of the vasculature	28962	OSTM1	OMIM:259720
HP:0002597	Abnormality of the vasculature	57410	SCYL1	OMIM:616719
HP:0002597	Abnormality of the vasculature	219285	SAMD9L	ORPHA:2585
HP:0002597	Abnormality of the vasculature	6888	TALDO1	OMIM:606003
HP:0002597	Abnormality of the vasculature	56052	ALG1	OMIM:608540
HP:0002597	Abnormality of the vasculature	91949	COG7	OMIM:608779
HP:0002597	Abnormality of the vasculature	7167	TPI1	OMIM:615512
HP:0002597	Abnormality of the vasculature	84529	CDIN1	OMIM:615631
HP:0002597	Abnormality of the vasculature	6513	SLC2A1	OMIM:612126
HP:0002597	Abnormality of the vasculature	6513	SLC2A1	OMIM:608885
HP:0002597	Abnormality of the vasculature	11133	KPTN	OMIM:615637
HP:0002597	Abnormality of the vasculature	5293	PIK3CD	OMIM:615513
HP:0002597	Abnormality of the vasculature	5156	PDGFRA	OMIM:607685
HP:0002597	Abnormality of the vasculature	4173	MCM4	OMIM:609981
HP:0002597	Abnormality of the vasculature	669	BPGM	OMIM:222800
HP:0002597	Abnormality of the vasculature	9948	WDR1	OMIM:150550
HP:0002597	Abnormality of the vasculature	4792	NFKBIA	OMIM:612132
HP:0002597	Abnormality of the vasculature	169792	GLIS3	OMIM:610199
HP:0002597	Abnormality of the vasculature	9076	CLDN1	ORPHA:59303
HP:0002597	Abnormality of the vasculature	9076	CLDN1	OMIM:607626
HP:0002597	Abnormality of the vasculature	9663	LPIN2	ORPHA:77297
HP:0002597	Abnormality of the vasculature	51218	GLRX5	OMIM:616860
HP:0002597	Abnormality of the vasculature	2821	GPI	OMIM:613470
HP:0002597	Abnormality of the vasculature	6097	RORC	OMIM:616622
HP:0002597	Abnormality of the vasculature	3248	HPGD	ORPHA:2796
HP:0002597	Abnormality of the vasculature	6578	SLCO2A1	ORPHA:2796
HP:0002597	Abnormality of the vasculature	9056	SLC7A7	OMIM:222700
HP:0002597	Abnormality of the vasculature	57511	COG6	OMIM:614576
HP:0002597	Abnormality of the vasculature	56623	INPP5E	ORPHA:1454
HP:0002597	Abnormality of the vasculature	25839	COG4	OMIM:613489
HP:0002597	Abnormality of the vasculature	5873	RAB27A	ORPHA:79477
HP:0002597	Abnormality of the vasculature	2328	FMO3	OMIM:602079
HP:0002597	Abnormality of the vasculature	5265	SERPINA1	OMIM:613490
HP:0002597	Abnormality of the vasculature	10367	MICU1	OMIM:615673
HP:0002597	Abnormality of the vasculature	26580	BSCL2	OMIM:269700
HP:0002597	Abnormality of the vasculature	3702	ITK	OMIM:613011
HP:0002597	Abnormality of the vasculature	2517	FUCA1	OMIM:230000
HP:0002597	Abnormality of the vasculature	2548	GAA	OMIM:232300
HP:0002597	Abnormality of the vasculature	5205	ATP8B1	OMIM:211600
HP:0002597	Abnormality of the vasculature	2065	ERBB3	OMIM:133180
HP:0002597	Abnormality of the vasculature	7040	TGFB1	ORPHA:1328
HP:0002597	Abnormality of the vasculature	1718	DHCR24	ORPHA:35107
HP:0002597	Abnormality of the vasculature	100151683	RNU4ATAC	OMIM:616651
HP:0002597	Abnormality of the vasculature	3098	HK1	OMIM:235700
HP:0002597	Abnormality of the vasculature	100506658	OCLN	OMIM:251290
HP:0002597	Abnormality of the vasculature	10577	NPC2	OMIM:607625
HP:0002597	Abnormality of the vasculature	2819	GPD1	OMIM:614480
HP:0002597	Abnormality of the vasculature	10020	GNE	OMIM:269921
HP:0002597	Abnormality of the vasculature	26503	SLC17A5	OMIM:269920
HP:0002597	Abnormality of the vasculature	27040	LAT	OMIM:617514
HP:0002597	Abnormality of the vasculature	4724	NDUFS4	OMIM:252010
HP:0002597	Abnormality of the vasculature	81570	CLPB	OMIM:619813
HP:0002597	Abnormality of the vasculature	10464	PIBF1	OMIM:617767
HP:0002597	Abnormality of the vasculature	3636	INPPL1	ORPHA:2746
HP:0002597	Abnormality of the vasculature	6929	TCF3	OMIM:619824
HP:0002597	Abnormality of the vasculature	2582	GALE	OMIM:230350
HP:0002597	Abnormality of the vasculature	326	AIRE	OMIM:240300
HP:0002597	Abnormality of the vasculature	55329	MNS1	OMIM:618948
HP:0002597	Abnormality of the vasculature	284086	NEK8	OMIM:615415
HP:0002597	Abnormality of the vasculature	84876	ORAI1	ORPHA:3204
HP:0002597	Abnormality of the vasculature	53335	BCL11A	ORPHA:251380
HP:0002597	Abnormality of the vasculature	10661	KLF1	ORPHA:251380
HP:0002597	Abnormality of the vasculature	3047	HBG1	ORPHA:251380
HP:0002597	Abnormality of the vasculature	3048	HBG2	ORPHA:251380
HP:0002597	Abnormality of the vasculature	84314	TMEM107	ORPHA:564
HP:0002597	Abnormality of the vasculature	26123	TCTN3	ORPHA:564
HP:0002597	Abnormality of the vasculature	79867	TCTN2	ORPHA:564
HP:0002597	Abnormality of the vasculature	80776	B9D2	ORPHA:564
HP:0002597	Abnormality of the vasculature	79600	TCTN1	ORPHA:564
HP:0002597	Abnormality of the vasculature	57096	RPGRIP1	ORPHA:564
HP:0002597	Abnormality of the vasculature	79848	CSPP1	ORPHA:564
HP:0002597	Abnormality of the vasculature	80184	CEP290	ORPHA:564
HP:0002597	Abnormality of the vasculature	51259	TMEM216	ORPHA:564
HP:0002597	Abnormality of the vasculature	57545	CC2D2A	ORPHA:564
HP:0002597	Abnormality of the vasculature	79770	TXNDC15	ORPHA:564
HP:0002597	Abnormality of the vasculature	27077	B9D1	ORPHA:564
HP:0002597	Abnormality of the vasculature	23322	RPGRIP1L	ORPHA:564
HP:0002597	Abnormality of the vasculature	65062	TMEM237	ORPHA:564
HP:0002597	Abnormality of the vasculature	27031	NPHP3	OMIM:208540
HP:0002597	Abnormality of the vasculature	3162	HMOX1	OMIM:614034
HP:0002597	Abnormality of the vasculature	90416	CCDC32	OMIM:619123
HP:0002597	Abnormality of the vasculature	4613	MYCN	OMIM:164280
HP:0002597	Abnormality of the vasculature	7291	TWIST1	OMIM:617746
HP:0002597	Abnormality of the vasculature	3921	RPSA	OMIM:271400
HP:0002597	Abnormality of the vasculature	63901	FAM111A	OMIM:602361
HP:0002597	Abnormality of the vasculature	745	MYRF	OMIM:618280
HP:0002597	Abnormality of the vasculature	537	ATP6AP1	OMIM:300972
HP:0002597	Abnormality of the vasculature	55012	PPP2R3C	OMIM:618419
HP:0002597	Abnormality of the vasculature	55770	EXOC2	OMIM:619306
HP:0002597	Abnormality of the vasculature	53834	FGFRL1	OMIM:194190
HP:0002597	Abnormality of the vasculature	1487	CTBP1	OMIM:194190
HP:0002597	Abnormality of the vasculature	3954	LETM1	OMIM:194190
HP:0002597	Abnormality of the vasculature	7468	NSD2	OMIM:194190
HP:0002597	Abnormality of the vasculature	10815	CPLX1	OMIM:194190
HP:0002597	Abnormality of the vasculature	219844	HYLS1	OMIM:236680
HP:0002597	Abnormality of the vasculature	2239	GPC4	ORPHA:373
HP:0002597	Abnormality of the vasculature	2239	GPC4	OMIM:312870
HP:0002597	Abnormality of the vasculature	2719	GPC3	ORPHA:373
HP:0002597	Abnormality of the vasculature	2719	GPC3	OMIM:312870
HP:0002597	Abnormality of the vasculature	8565	YARS1	OMIM:619418
HP:0002597	Abnormality of the vasculature	57539	WDR35	OMIM:613610
HP:0002597	Abnormality of the vasculature	50937	CDON	OMIM:614226
HP:0002597	Abnormality of the vasculature	51715	RAB23	OMIM:201000
HP:0002597	Abnormality of the vasculature	51715	RAB23	ORPHA:65759
HP:0002597	Abnormality of the vasculature	25790	CFAP45	OMIM:619608
HP:0002597	Abnormality of the vasculature	1954	MEGF8	ORPHA:65759
HP:0002597	Abnormality of the vasculature	50628	GEMIN4	OMIM:617913
HP:0002597	Abnormality of the vasculature	182	JAG1	OMIM:118450
HP:0002597	Abnormality of the vasculature	5456	POU3F4	ORPHA:1435
HP:0002597	Abnormality of the vasculature	2165	F13B	ORPHA:331
HP:0002597	Abnormality of the vasculature	10559	SLC35A1	ORPHA:238459
HP:0002597	Abnormality of the vasculature	10559	SLC35A1	OMIM:603585
HP:0002597	Abnormality of the vasculature	2048	EPHB2	OMIM:618462
HP:0002597	Abnormality of the vasculature	113189	CHST14	ORPHA:2953
HP:0002597	Abnormality of the vasculature	29940	DSE	ORPHA:2953
HP:0002597	Abnormality of the vasculature	5155	PDGFB	ORPHA:1980
HP:0002597	Abnormality of the vasculature	9213	XPR1	ORPHA:1980
HP:0002597	Abnormality of the vasculature	5159	PDGFRB	ORPHA:1980
HP:0002597	Abnormality of the vasculature	57462	MYORG	ORPHA:1980
HP:0002597	Abnormality of the vasculature	6575	SLC20A2	ORPHA:1980
HP:0002597	Abnormality of the vasculature	58494	JAM2	ORPHA:1980
HP:0002597	Abnormality of the vasculature	171023	ASXL1	ORPHA:98850
HP:0002597	Abnormality of the vasculature	861	RUNX1	ORPHA:98850
HP:0002597	Abnormality of the vasculature	6427	SRSF2	ORPHA:98850
HP:0002597	Abnormality of the vasculature	356	FASLG	ORPHA:3261
HP:0002597	Abnormality of the vasculature	843	CASP10	ORPHA:3261
HP:0002597	Abnormality of the vasculature	83737	ITCH	OMIM:613385
HP:0002597	Abnormality of the vasculature	83737	ITCH	ORPHA:228426
HP:0002597	Abnormality of the vasculature	7289	TULP3	OMIM:619902
HP:0002597	Abnormality of the vasculature	199221	DZIP1L	ORPHA:731
HP:0002597	Abnormality of the vasculature	5314	PKHD1	ORPHA:731
HP:0002597	Abnormality of the vasculature	4702	NDUFA8	OMIM:619272
HP:0002597	Abnormality of the vasculature	7066	THPO	ORPHA:71493
HP:0002597	Abnormality of the vasculature	4558	MT-TF	ORPHA:550
HP:0002597	Abnormality of the vasculature	4572	MT-TQ	ORPHA:550
HP:0002597	Abnormality of the vasculature	4512	MT-CO1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4513	MT-CO2	ORPHA:550
HP:0002597	Abnormality of the vasculature	4514	MT-CO3	ORPHA:550
HP:0002597	Abnormality of the vasculature	4578	MT-TW	ORPHA:550
HP:0002597	Abnormality of the vasculature	4540	MT-ND5	ORPHA:550
HP:0002597	Abnormality of the vasculature	4541	MT-ND6	ORPHA:550
HP:0002597	Abnormality of the vasculature	4535	MT-ND1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4538	MT-ND4	ORPHA:550
HP:0002597	Abnormality of the vasculature	4567	MT-TL1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4574	MT-TS1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4575	MT-TS2	ORPHA:550
HP:0002597	Abnormality of the vasculature	4564	MT-TH	ORPHA:550
HP:0002597	Abnormality of the vasculature	79717	PPCS	OMIM:618189
HP:0002597	Abnormality of the vasculature	776	CACNA1D	OMIM:615474
HP:0002597	Abnormality of the vasculature	776	CACNA1D	ORPHA:369929
HP:0002597	Abnormality of the vasculature	498	ATP5F1A	OMIM:616045
HP:0002597	Abnormality of the vasculature	775	CACNA1C	OMIM:620029
HP:0002597	Abnormality of the vasculature	775	CACNA1C	OMIM:601005
HP:0002597	Abnormality of the vasculature	81857	MED25	OMIM:616449
HP:0002597	Abnormality of the vasculature	81857	MED25	ORPHA:464738
HP:0002597	Abnormality of the vasculature	3875	KRT18	OMIM:215600
HP:0002597	Abnormality of the vasculature	1277	COL1A1	OMIM:259420
HP:0002597	Abnormality of the vasculature	1278	COL1A2	OMIM:259420
HP:0002597	Abnormality of the vasculature	1235	CCR6	ORPHA:220402
HP:0002597	Abnormality of the vasculature	1235	CCR6	ORPHA:220393
HP:0002597	Abnormality of the vasculature	79932	KIAA0319L	ORPHA:220402
HP:0002597	Abnormality of the vasculature	1490	CCN2	ORPHA:220402
HP:0002597	Abnormality of the vasculature	1490	CCN2	ORPHA:220393
HP:0002597	Abnormality of the vasculature	3663	IRF5	ORPHA:220402
HP:0002597	Abnormality of the vasculature	3663	IRF5	ORPHA:220393
HP:0002597	Abnormality of the vasculature	411	ARSB	OMIM:253200
HP:0002597	Abnormality of the vasculature	27125	AFF4	ORPHA:444077
HP:0002597	Abnormality of the vasculature	4784	NFIX	ORPHA:447980
HP:0002597	Abnormality of the vasculature	4784	NFIX	OMIM:602535
HP:0002597	Abnormality of the vasculature	55315	SLC29A3	OMIM:602782
HP:0002597	Abnormality of the vasculature	1349	COX7B	OMIM:300887
HP:0002597	Abnormality of the vasculature	23395	LARS2	OMIM:617021
HP:0002597	Abnormality of the vasculature	6440	SFTPC	OMIM:178500
HP:0002597	Abnormality of the vasculature	6440	SFTPC	OMIM:610913
HP:0002597	Abnormality of the vasculature	727897	MUC5B	OMIM:178500
HP:0002597	Abnormality of the vasculature	729238	SFTPA2	OMIM:178500
HP:0002597	Abnormality of the vasculature	51601	LIPT1	OMIM:616299
HP:0002597	Abnormality of the vasculature	3908	LAMA2	ORPHA:258
HP:0002597	Abnormality of the vasculature	9382	COG1	ORPHA:263508
HP:0002597	Abnormality of the vasculature	1340	COX6B1	OMIM:619051
HP:0002597	Abnormality of the vasculature	65082	VPS33A	ORPHA:505248
HP:0002597	Abnormality of the vasculature	1351	COX8A	OMIM:619059
HP:0002597	Abnormality of the vasculature	50619	DEF6	OMIM:619573
HP:0002597	Abnormality of the vasculature	79572	ATP13A3	OMIM:265400
HP:0002597	Abnormality of the vasculature	9469	CHST3	OMIM:143095
HP:0002597	Abnormality of the vasculature	92579	G6PC3	OMIM:612541
HP:0002597	Abnormality of the vasculature	56244	BTNL2	OMIM:612387
HP:0002597	Abnormality of the vasculature	2260	FGFR1	ORPHA:2396
HP:0002597	Abnormality of the vasculature	7080	NKX2-1	ORPHA:209905
HP:0002597	Abnormality of the vasculature	55750	AGK	OMIM:212350
HP:0002597	Abnormality of the vasculature	9377	COX5A	OMIM:619064
HP:0002597	Abnormality of the vasculature	9496	TBX4	ORPHA:261279
HP:0002597	Abnormality of the vasculature	9896	FIG4	ORPHA:3472
HP:0002597	Abnormality of the vasculature	9896	FIG4	OMIM:216340
HP:0002597	Abnormality of the vasculature	55697	VAC14	ORPHA:3472
HP:0002597	Abnormality of the vasculature	3977	LIFR	OMIM:601559
HP:0002597	Abnormality of the vasculature	659	BMPR2	OMIM:178600
HP:0002597	Abnormality of the vasculature	659	BMPR2	OMIM:265450
HP:0002597	Abnormality of the vasculature	5826	ABCD4	OMIM:614857
HP:0002597	Abnormality of the vasculature	760	CA2	ORPHA:2785
HP:0002597	Abnormality of the vasculature	10370	CITED2	ORPHA:99105
HP:0002597	Abnormality of the vasculature	10370	CITED2	ORPHA:99103
HP:0002597	Abnormality of the vasculature	7092	TLL1	ORPHA:99106
HP:0002597	Abnormality of the vasculature	7092	TLL1	ORPHA:99103
HP:0002597	Abnormality of the vasculature	57057	TBX20	ORPHA:99103
HP:0002597	Abnormality of the vasculature	4624	MYH6	ORPHA:99103
HP:0002597	Abnormality of the vasculature	70	ACTC1	ORPHA:99103
HP:0002597	Abnormality of the vasculature	7840	ALMS1	ORPHA:64
HP:0002597	Abnormality of the vasculature	6772	STAT1	ORPHA:391487
HP:0002597	Abnormality of the vasculature	10043	TOM1	ORPHA:391487
HP:0002597	Abnormality of the vasculature	3572	IL6ST	OMIM:619751
HP:0002597	Abnormality of the vasculature	2261	FGFR3	OMIM:616482
HP:0002597	Abnormality of the vasculature	10664	CTCF	ORPHA:363611
HP:0002597	Abnormality of the vasculature	4607	MYBPC3	OMIM:615396
HP:0002597	Abnormality of the vasculature	7414	VCL	OMIM:613255
HP:0002597	Abnormality of the vasculature	29957	SLC25A24	OMIM:612289
HP:0002597	Abnormality of the vasculature	8517	IKBKG	ORPHA:464
HP:0002597	Abnormality of the vasculature	10269	ZMPSTE24	ORPHA:740
HP:0002597	Abnormality of the vasculature	23556	PIGN	ORPHA:280633
HP:0002597	Abnormality of the vasculature	3043	HBB	ORPHA:231222
HP:0002597	Abnormality of the vasculature	4716	NDUFB10	OMIM:619003
HP:0002597	Abnormality of the vasculature	2629	GBA1	OMIM:230800
HP:0002597	Abnormality of the vasculature	2629	GBA1	ORPHA:2072
HP:0002597	Abnormality of the vasculature	2629	GBA1	ORPHA:77261
HP:0002597	Abnormality of the vasculature	2629	GBA1	ORPHA:77259
HP:0002597	Abnormality of the vasculature	27086	FOXP1	ORPHA:391372
HP:0002597	Abnormality of the vasculature	50485	SMARCAL1	ORPHA:1830
HP:0002597	Abnormality of the vasculature	50485	SMARCAL1	OMIM:242900
HP:0002597	Abnormality of the vasculature	8292	COLQ	ORPHA:98915
HP:0002597	Abnormality of the vasculature	3913	LAMB2	ORPHA:98915
HP:0002597	Abnormality of the vasculature	4625	MYH7	OMIM:613426
HP:0002597	Abnormality of the vasculature	10551	AGR2	OMIM:620233
HP:0002597	Abnormality of the vasculature	3516	RBPJ	ORPHA:974
HP:0002597	Abnormality of the vasculature	57572	DOCK6	ORPHA:974
HP:0002597	Abnormality of the vasculature	285203	EOGT	ORPHA:974
HP:0002597	Abnormality of the vasculature	54567	DLL4	ORPHA:974
HP:0002597	Abnormality of the vasculature	6123	RPL3L	OMIM:619371
HP:0002597	Abnormality of the vasculature	8815	BANF1	OMIM:614008
HP:0002597	Abnormality of the vasculature	5236	PGM1	OMIM:614921
HP:0002597	Abnormality of the vasculature	5557	PRIM1	OMIM:620005
HP:0002597	Abnormality of the vasculature	64127	NOD2	ORPHA:90340
HP:0002597	Abnormality of the vasculature	55901	THSD1	OMIM:620244
HP:0002597	Abnormality of the vasculature	2542	SLC37A4	OMIM:232240
HP:0002597	Abnormality of the vasculature	27247	NFU1	OMIM:605711
HP:0002597	Abnormality of the vasculature	8295	TRRAP	OMIM:618454
HP:0002597	Abnormality of the vasculature	4093	SMAD9	OMIM:615342
HP:0002597	Abnormality of the vasculature	51025	PAM16	OMIM:613320
HP:0002597	Abnormality of the vasculature	2316	FLNA	OMIM:309350
HP:0002597	Abnormality of the vasculature	23590	PDSS1	OMIM:614651
HP:0002597	Abnormality of the vasculature	7319	UBE2A	ORPHA:163956
HP:0002597	Abnormality of the vasculature	54938	SARS2	OMIM:613845
HP:0002597	Abnormality of the vasculature	389827	MYMK	OMIM:254940
HP:0002597	Abnormality of the vasculature	950	SCARB2	ORPHA:77259
HP:0002597	Abnormality of the vasculature	2159	F10	ORPHA:328
HP:0002597	Abnormality of the vasculature	54809	SAMD9	OMIM:617053
HP:0002597	Abnormality of the vasculature	2155	F7	OMIM:227500
HP:0002597	Abnormality of the vasculature	2155	F7	ORPHA:327
HP:0002597	Abnormality of the vasculature	5345	SERPINF2	ORPHA:79
HP:0002597	Abnormality of the vasculature	249	ALPL	OMIM:241500
HP:0002597	Abnormality of the vasculature	3998	LMAN1	ORPHA:35909
HP:0002597	Abnormality of the vasculature	90411	MCFD2	ORPHA:35909
HP:0002597	Abnormality of the vasculature	1584	CYP11B1	ORPHA:90795
HP:0002597	Abnormality of the vasculature	1584	CYP11B1	ORPHA:403
HP:0002597	Abnormality of the vasculature	1284	COL4A2	OMIM:614483
HP:0002597	Abnormality of the vasculature	1181	CLCN2	ORPHA:404
HP:0002597	Abnormality of the vasculature	1585	CYP11B2	ORPHA:403
HP:0002597	Abnormality of the vasculature	25942	SIN3A	OMIM:613406
HP:0002597	Abnormality of the vasculature	2658	GDF2	ORPHA:774
HP:0002597	Abnormality of the vasculature	94	ACVRL1	ORPHA:774
HP:0002597	Abnormality of the vasculature	2022	ENG	ORPHA:774
HP:0002597	Abnormality of the vasculature	875	CBS	ORPHA:394
HP:0002597	Abnormality of the vasculature	6005	RHAG	OMIM:185000
HP:0002597	Abnormality of the vasculature	2162	F13A1	OMIM:188050
HP:0002597	Abnormality of the vasculature	2147	F2	OMIM:188050
HP:0002597	Abnormality of the vasculature	3026	HABP2	OMIM:188050
HP:0002597	Abnormality of the vasculature	4524	MTHFR	OMIM:188050
HP:0002597	Abnormality of the vasculature	7056	THBD	OMIM:614486
HP:0002597	Abnormality of the vasculature	25974	MMACHC	ORPHA:79282
HP:0002597	Abnormality of the vasculature	5624	PROC	OMIM:612304
HP:0002597	Abnormality of the vasculature	5624	PROC	ORPHA:745
HP:0002597	Abnormality of the vasculature	5624	PROC	OMIM:176860
HP:0002597	Abnormality of the vasculature	5627	PROS1	ORPHA:743
HP:0002597	Abnormality of the vasculature	5627	PROS1	OMIM:614514
HP:0002597	Abnormality of the vasculature	5627	PROS1	OMIM:612336
HP:0002597	Abnormality of the vasculature	2776	GNAQ	ORPHA:624
HP:0002597	Abnormality of the vasculature	2776	GNAQ	ORPHA:3205
HP:0002597	Abnormality of the vasculature	5728	PTEN	ORPHA:744
HP:0002597	Abnormality of the vasculature	207	AKT1	ORPHA:744
HP:0002597	Abnormality of the vasculature	5277	PIGA	ORPHA:447
HP:0002597	Abnormality of the vasculature	5354	PLP1	ORPHA:99015
HP:0002597	Abnormality of the vasculature	1604	CD55	OMIM:226300
HP:0002597	Abnormality of the vasculature	3762	KCNJ5	OMIM:613485
HP:0002597	Abnormality of the vasculature	149233	IL23R	ORPHA:117
HP:0002597	Abnormality of the vasculature	6775	STAT4	ORPHA:117
HP:0002597	Abnormality of the vasculature	3586	IL10	ORPHA:117
HP:0002597	Abnormality of the vasculature	4210	MEFV	ORPHA:117
HP:0002597	Abnormality of the vasculature	1230	CCR1	ORPHA:117
HP:0002597	Abnormality of the vasculature	355	FAS	ORPHA:117
HP:0002597	Abnormality of the vasculature	3592	IL12A	ORPHA:117
HP:0002597	Abnormality of the vasculature	101928376	IL12A-AS1	ORPHA:117
HP:0002597	Abnormality of the vasculature	3106	HLA-B	ORPHA:117
HP:0002597	Abnormality of the vasculature	7099	TLR4	ORPHA:117
HP:0002597	Abnormality of the vasculature	3459	IFNGR1	ORPHA:117
HP:0002597	Abnormality of the vasculature	720	C4A	ORPHA:117
HP:0002597	Abnormality of the vasculature	337867	UBAC2	ORPHA:117
HP:0002597	Abnormality of the vasculature	51752	ERAP1	ORPHA:117
HP:0002597	Abnormality of the vasculature	8302	KLRC4	ORPHA:117
HP:0002597	Abnormality of the vasculature	71	ACTG1	ORPHA:2995
HP:0002597	Abnormality of the vasculature	60	ACTB	ORPHA:2995
HP:0002597	Abnormality of the vasculature	5621	PRNP	ORPHA:282166
HP:0002597	Abnormality of the vasculature	4511	MT-TC	OMIM:540000
HP:0002597	Abnormality of the vasculature	4566	MT-TK	OMIM:540000
HP:0002597	Abnormality of the vasculature	4577	MT-TV	OMIM:540000
HP:0002597	Abnormality of the vasculature	1798	DPAGT1	ORPHA:86309
HP:0002597	Abnormality of the vasculature	7466	WFS1	OMIM:222300
HP:0002597	Abnormality of the vasculature	3980	LIG3	OMIM:619780
HP:0002597	Abnormality of the vasculature	54344	DPM3	ORPHA:263494
HP:0002597	Abnormality of the vasculature	6786	STIM1	OMIM:185070
HP:0002597	Abnormality of the vasculature	91869	RFT1	ORPHA:244310
HP:0002597	Abnormality of the vasculature	23600	AMACR	ORPHA:79095
HP:0002597	Abnormality of the vasculature	5373	PMM2	OMIM:212065
HP:0002597	Abnormality of the vasculature	7276	TTR	OMIM:105210
HP:0002597	Abnormality of the vasculature	3569	IL6	OMIM:108010
HP:0002597	Abnormality of the vasculature	6571	SLC18A2	ORPHA:352649
HP:0002597	Abnormality of the vasculature	2201	FBN2	OMIM:121050
HP:0002597	Abnormality of the vasculature	5500	PPP1CB	OMIM:617506
HP:0002597	Abnormality of the vasculature	51726	DNAJB11	ORPHA:730
HP:0002597	Abnormality of the vasculature	23193	GANAB	ORPHA:730
HP:0002597	Abnormality of the vasculature	5311	PKD2	ORPHA:730
HP:0002597	Abnormality of the vasculature	29880	ALG5	ORPHA:730
HP:0002597	Abnormality of the vasculature	9742	IFT140	ORPHA:730
HP:0002597	Abnormality of the vasculature	79796	ALG9	ORPHA:730
HP:0002597	Abnormality of the vasculature	80114	BICC1	ORPHA:730
HP:0002597	Abnormality of the vasculature	126792	B3GALT6	ORPHA:536467
HP:0002597	Abnormality of the vasculature	126792	B3GALT6	OMIM:615349
HP:0002597	Abnormality of the vasculature	3190	HNRNPK	OMIM:616580
HP:0002597	Abnormality of the vasculature	2332	FMR1	ORPHA:449291
HP:0002597	Abnormality of the vasculature	7169	TPM2	ORPHA:171881
HP:0002597	Abnormality of the vasculature	7170	TPM3	ORPHA:171881
HP:0002597	Abnormality of the vasculature	5238	PGM3	OMIM:615816
HP:0002597	Abnormality of the vasculature	26229	B3GAT3	OMIM:245600
HP:0002597	Abnormality of the vasculature	4883	NPR3	OMIM:619543
HP:0002597	Abnormality of the vasculature	79576	NKAP	OMIM:301039
HP:0002597	Abnormality of the vasculature	833	CARS1	OMIM:618891
HP:0002597	Abnormality of the vasculature	54538	ROBO4	OMIM:618496
HP:0002597	Abnormality of the vasculature	25	ABL1	OMIM:617602
HP:0002597	Abnormality of the vasculature	79875	THSD4	OMIM:619825
HP:0002597	Abnormality of the vasculature	23384	SPECC1L	OMIM:145420
HP:0002597	Abnormality of the vasculature	29927	SEC61A1	OMIM:617056
HP:0002597	Abnormality of the vasculature	8425	LTBP4	OMIM:613177
HP:0002597	Abnormality of the vasculature	57167	SALL4	OMIM:607323
HP:0002597	Abnormality of the vasculature	91147	TMEM67	OMIM:216360
HP:0002597	Abnormality of the vasculature	197131	UBR1	OMIM:243800
HP:0002597	Abnormality of the vasculature	11231	SEC63	ORPHA:2924
HP:0002597	Abnormality of the vasculature	5589	PRKCSH	ORPHA:2924
HP:0002597	Abnormality of the vasculature	5573	PRKAR1A	ORPHA:615
HP:0002597	Abnormality of the vasculature	6774	STAT3	ORPHA:2314
HP:0002597	Abnormality of the vasculature	57728	WDR19	OMIM:616307
HP:0002597	Abnormality of the vasculature	3110	MNX1	OMIM:176450
HP:0002597	Abnormality of the vasculature	286204	CRB2	OMIM:219730
HP:0002597	Abnormality of the vasculature	54903	MKS1	OMIM:249000
HP:0002597	Abnormality of the vasculature	5087	PBX1	OMIM:617641
HP:0002597	Abnormality of the vasculature	284119	CAVIN1	OMIM:613327
HP:0002597	Abnormality of the vasculature	5193	PEX12	OMIM:614859
HP:0002597	Abnormality of the vasculature	9158	FIBP	ORPHA:500095
HP:0002597	Abnormality of the vasculature	9158	FIBP	OMIM:617107
HP:0002597	Abnormality of the vasculature	2303	FOXC2	ORPHA:33001
HP:0002597	Abnormality of the vasculature	2303	FOXC2	OMIM:153400
HP:0002597	Abnormality of the vasculature	3798	KIF5A	ORPHA:100991
HP:0002597	Abnormality of the vasculature	57165	GJC2	ORPHA:79452
HP:0002597	Abnormality of the vasculature	1188	CLCNKB	ORPHA:358
HP:0002597	Abnormality of the vasculature	6559	SLC12A3	ORPHA:358
HP:0002597	Abnormality of the vasculature	335	APOA1	ORPHA:425
HP:0002597	Abnormality of the vasculature	3931	LCAT	ORPHA:79292
HP:0002597	Abnormality of the vasculature	91754	NEK9	OMIM:617022
HP:0002597	Abnormality of the vasculature	3052	HCCS	OMIM:309801
HP:0002597	Abnormality of the vasculature	54539	NDUFB11	OMIM:309801
HP:0002597	Abnormality of the vasculature	23483	TGDS	OMIM:616145
HP:0002597	Abnormality of the vasculature	78987	CRELD1	OMIM:606217
HP:0002597	Abnormality of the vasculature	11146	GLMN	ORPHA:83454
HP:0002597	Abnormality of the vasculature	90268	OTULIN	OMIM:617099
HP:0002597	Abnormality of the vasculature	7456	WIPF1	ORPHA:906
HP:0002597	Abnormality of the vasculature	4598	MVK	ORPHA:343
HP:0002597	Abnormality of the vasculature	11277	TREX1	OMIM:225750
HP:0002597	Abnormality of the vasculature	331	XIAP	OMIM:308240
HP:0002597	Abnormality of the vasculature	4068	SH2D1A	OMIM:308240
HP:0002597	Abnormality of the vasculature	6335	SCN9A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	11280	SCN11A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	6336	SCN10A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	10095	ARPC1B	OMIM:617718
HP:0002597	Abnormality of the vasculature	6583	SLC22A4	OMIM:180300
HP:0002597	Abnormality of the vasculature	4261	CIITA	OMIM:180300
HP:0002597	Abnormality of the vasculature	51744	CD244	OMIM:180300
HP:0002597	Abnormality of the vasculature	4795	NFKBIL1	OMIM:180300
HP:0002597	Abnormality of the vasculature	4615	MYD88	ORPHA:33226
HP:0002597	Abnormality of the vasculature	23495	TNFRSF13B	ORPHA:1572
HP:0002597	Abnormality of the vasculature	4790	NFKB1	ORPHA:1572
HP:0002597	Abnormality of the vasculature	4791	NFKB2	ORPHA:1572
HP:0002597	Abnormality of the vasculature	115650	TNFRSF13C	ORPHA:1572
HP:0002597	Abnormality of the vasculature	1380	CR2	ORPHA:1572
HP:0002597	Abnormality of the vasculature	8742	TNFSF12	ORPHA:1572
HP:0002597	Abnormality of the vasculature	930	CD19	ORPHA:1572
HP:0002597	Abnormality of the vasculature	29851	ICOS	ORPHA:1572
HP:0002597	Abnormality of the vasculature	931	MS4A1	ORPHA:1572
HP:0002597	Abnormality of the vasculature	975	CD81	ORPHA:1572
HP:0002597	Abnormality of the vasculature	359948	IRF2BP2	ORPHA:1572
HP:0002597	Abnormality of the vasculature	54	ACP5	ORPHA:1855
HP:0002597	Abnormality of the vasculature	847	CAT	ORPHA:926
HP:0002597	Abnormality of the vasculature	162417	NAGS	ORPHA:927
HP:0002597	Abnormality of the vasculature	6340	SCNN1G	ORPHA:526
HP:0002597	Abnormality of the vasculature	6338	SCNN1B	ORPHA:526
HP:0002597	Abnormality of the vasculature	6337	SCNN1A	ORPHA:526
HP:0002597	Abnormality of the vasculature	1493	CTLA4	ORPHA:900
HP:0002597	Abnormality of the vasculature	5657	PRTN3	ORPHA:900
HP:0002597	Abnormality of the vasculature	3113	HLA-DPA1	ORPHA:900
HP:0002597	Abnormality of the vasculature	2153	F5	OMIM:600880
HP:0002597	Abnormality of the vasculature	633	BGN	OMIM:300989
HP:0002597	Abnormality of the vasculature	64170	CARD9	OMIM:212050
HP:0002597	Abnormality of the vasculature	56259	CTNNBL1	OMIM:619846
HP:0002597	Abnormality of the vasculature	7374	UNG	OMIM:608106
HP:0002597	Abnormality of the vasculature	9636	ISG15	OMIM:616126
HP:0002597	Abnormality of the vasculature	6049	RNF6	ORPHA:99977
HP:0002597	Abnormality of the vasculature	51741	WWOX	ORPHA:99977
HP:0002597	Abnormality of the vasculature	9940	DLEC1	ORPHA:99977
HP:0002597	Abnormality of the vasculature	57379	AICDA	OMIM:605258
HP:0002597	Abnormality of the vasculature	9837	GINS1	OMIM:617827
HP:0002597	Abnormality of the vasculature	5978	REST	ORPHA:654
HP:0002597	Abnormality of the vasculature	10155	TRIM28	ORPHA:654
HP:0002597	Abnormality of the vasculature	11281	POU6F2	ORPHA:654
HP:0002597	Abnormality of the vasculature	283120	H19	ORPHA:654
HP:0002597	Abnormality of the vasculature	51371	POMP	OMIM:618048
HP:0002597	Abnormality of the vasculature	7852	CXCR4	ORPHA:51636
HP:0002597	Abnormality of the vasculature	3394	IRF8	OMIM:614893
HP:0002597	Abnormality of the vasculature	5896	RAG1	ORPHA:331206
HP:0002597	Abnormality of the vasculature	5897	RAG2	ORPHA:331206
HP:0002597	Abnormality of the vasculature	10616	RBCK1	OMIM:615895
HP:0002597	Abnormality of the vasculature	5880	RAC2	OMIM:618986
HP:0002597	Abnormality of the vasculature	7535	ZAP70	ORPHA:911
HP:0002597	Abnormality of the vasculature	5788	PTPRC	OMIM:619924
HP:0002597	Abnormality of the vasculature	958	CD40	OMIM:606843
HP:0002597	Abnormality of the vasculature	3431	SP110	OMIM:235550
HP:0002597	Abnormality of the vasculature	3431	SP110	ORPHA:79124
HP:0002597	Abnormality of the vasculature	1161	ERCC8	OMIM:216400
HP:0002597	Abnormality of the vasculature	6309	SC5D	OMIM:607330
HP:0002597	Abnormality of the vasculature	1439	CSF2RB	ORPHA:264675
HP:0002597	Abnormality of the vasculature	1438	CSF2RA	ORPHA:264675
HP:0002597	Abnormality of the vasculature	5538	PPT1	OMIM:256730
HP:0002597	Abnormality of the vasculature	54982	CLN6	OMIM:204300
HP:0002597	Abnormality of the vasculature	80331	DNAJC5	OMIM:162350
HP:0002597	Abnormality of the vasculature	1509	CTSD	OMIM:610127
HP:0002597	Abnormality of the vasculature	2055	CLN8	ORPHA:1947
HP:0002597	Abnormality of the vasculature	4286	MITF	ORPHA:895
HP:0002597	Abnormality of the vasculature	7299	TYR	ORPHA:895
HP:0002597	Abnormality of the vasculature	6591	SNAI2	ORPHA:895
HP:0002597	Abnormality of the vasculature	1910	EDNRB	ORPHA:895
HP:0002597	Abnormality of the vasculature	4254	KITLG	ORPHA:895
HP:0002597	Abnormality of the vasculature	6663	SOX10	ORPHA:895
HP:0002597	Abnormality of the vasculature	145173	B3GLCT	ORPHA:709
HP:0002597	Abnormality of the vasculature	5080	PAX6	ORPHA:1065
HP:0002597	Abnormality of the vasculature	3708	ITPR1	ORPHA:1065
HP:0002597	Abnormality of the vasculature	55109	AGGF1	ORPHA:90308
HP:0002597	Abnormality of the vasculature	673	BRAF	ORPHA:500
HP:0002597	Abnormality of the vasculature	9968	MED12	OMIM:301068
HP:0002597	Abnormality of the vasculature	2006	ELN	OMIM:185500
HP:0002597	Abnormality of the vasculature	6134	RPL10	OMIM:300998
HP:0002597	Abnormality of the vasculature	6134	RPL10	ORPHA:459070
HP:0002597	Abnormality of the vasculature	6134	RPL10	ORPHA:435938
HP:0002597	Abnormality of the vasculature	81031	SLC2A10	OMIM:208050
HP:0002597	Abnormality of the vasculature	81031	SLC2A10	ORPHA:3342
HP:0002597	Abnormality of the vasculature	8260	NAA10	OMIM:300855
HP:0002597	Abnormality of the vasculature	8260	NAA10	ORPHA:276432
HP:0002597	Abnormality of the vasculature	1272	CNTN1	OMIM:612540
HP:0002597	Abnormality of the vasculature	10082	GPC6	OMIM:258315
HP:0002597	Abnormality of the vasculature	9487	PIGL	OMIM:280000
HP:0002597	Abnormality of the vasculature	64919	BCL11B	OMIM:617237
HP:0002597	Abnormality of the vasculature	57514	ARHGAP31	OMIM:100300
HP:0002597	Abnormality of the vasculature	2627	GATA6	ORPHA:2255
HP:0002597	Abnormality of the vasculature	2627	GATA6	OMIM:600001
HP:0002597	Abnormality of the vasculature	22800	RRAS2	ORPHA:648
HP:0002597	Abnormality of the vasculature	867	CBL	ORPHA:648
HP:0002597	Abnormality of the vasculature	8216	LZTR1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6016	RIT1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6237	RRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	5894	RAF1	ORPHA:648
HP:0002597	Abnormality of the vasculature	22808	MRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	3845	KRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	200734	SPRED2	ORPHA:648
HP:0002597	Abnormality of the vasculature	4893	NRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	6654	SOS1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6655	SOS2	ORPHA:648
HP:0002597	Abnormality of the vasculature	5781	PTPN11	ORPHA:648
HP:0002597	Abnormality of the vasculature	5922	RASA2	ORPHA:648
HP:0002597	Abnormality of the vasculature	7486	WRN	ORPHA:902
HP:0002597	Abnormality of the vasculature	54361	WNT4	OMIM:611812
HP:0002597	Abnormality of the vasculature	9839	ZEB2	OMIM:235730
HP:0002597	Abnormality of the vasculature	415	ARSL	ORPHA:79345
HP:0002597	Abnormality of the vasculature	10312	TCIRG1	ORPHA:667
HP:0002597	Abnormality of the vasculature	1186	CLCN7	ORPHA:667
HP:0002597	Abnormality of the vasculature	29887	SNX10	ORPHA:667
HP:0002597	Abnormality of the vasculature	8600	TNFSF11	ORPHA:667
HP:0002597	Abnormality of the vasculature	2626	GATA4	ORPHA:251071
HP:0002597	Abnormality of the vasculature	5422	POLA1	OMIM:301030
HP:0002597	Abnormality of the vasculature	2623	GATA1	OMIM:190685
HP:0002597	Abnormality of the vasculature	4256	MGP	ORPHA:85202
HP:0002597	Abnormality of the vasculature	92002	CCNQ	ORPHA:140952
HP:0002597	Abnormality of the vasculature	1482	NKX2-5	OMIM:614432
HP:0002597	Abnormality of the vasculature	388015	RTL1	ORPHA:96334
HP:0002597	Abnormality of the vasculature	8788	DLK1	ORPHA:96334
HP:0002597	Abnormality of the vasculature	55384	MEG3	ORPHA:96334
HP:0002597	Abnormality of the vasculature	1593	CYP27A1	ORPHA:909
HP:0002597	Abnormality of the vasculature	3949	LDLR	ORPHA:391665
HP:0002597	Abnormality of the vasculature	255738	PCSK9	ORPHA:391665
HP:0002597	Abnormality of the vasculature	26119	LDLRAP1	ORPHA:391665
HP:0002597	Abnormality of the vasculature	338	APOB	ORPHA:391665
HP:0002597	Abnormality of the vasculature	64240	ABCG5	ORPHA:391665
HP:0002597	Abnormality of the vasculature	64241	ABCG8	ORPHA:391665
HP:0002597	Abnormality of the vasculature	7148	TNXB	ORPHA:230839
HP:0002597	Abnormality of the vasculature	4000	LMNA	ORPHA:280365
HP:0002597	Abnormality of the vasculature	4000	LMNA	OMIM:176670
HP:0002597	Abnormality of the vasculature	116519	APOA5	OMIM:145750
HP:0002597	Abnormality of the vasculature	1071	CETP	ORPHA:79506
HP:0002597	Abnormality of the vasculature	345	APOC3	ORPHA:79506
HP:0002597	Abnormality of the vasculature	4023	LPL	OMIM:238600
HP:0002597	Abnormality of the vasculature	4907	NT5E	OMIM:211800
HP:0002597	Abnormality of the vasculature	189	AGXT	OMIM:259900
HP:0002597	Abnormality of the vasculature	4352	MPL	ORPHA:729
HP:0002597	Abnormality of the vasculature	3717	JAK2	ORPHA:729
HP:0002597	Abnormality of the vasculature	54790	TET2	ORPHA:729
HP:0002597	Abnormality of the vasculature	64131	XYLT1	OMIM:264800
HP:0002597	Abnormality of the vasculature	64132	XYLT2	OMIM:264800
HP:0002597	Abnormality of the vasculature	368	ABCC6	OMIM:264800
HP:0002597	Abnormality of the vasculature	1836	SLC26A2	ORPHA:56304
HP:0002597	Abnormality of the vasculature	3053	SERPIND1	OMIM:612356
HP:0002597	Abnormality of the vasculature	3777	KCNK3	OMIM:615344
HP:0002597	Abnormality of the vasculature	440275	EIF2AK4	ORPHA:199241
HP:0002597	Abnormality of the vasculature	4629	MYH11	OMIM:619351
HP:0002597	Abnormality of the vasculature	857	CAV1	OMIM:615343
HP:0002597	Abnormality of the vasculature	2591	GALNT3	OMIM:211900
HP:0002597	Abnormality of the vasculature	8772	FADD	OMIM:613759
HP:0002597	Abnormality of the vasculature	8772	FADD	ORPHA:306550
HP:0002597	Abnormality of the vasculature	6597	SMARCA4	OMIM:614609
HP:0002597	Abnormality of the vasculature	118924	FRA10AC1	OMIM:620113
HP:0002597	Abnormality of the vasculature	375	ARF1	ORPHA:98892
HP:0002597	Abnormality of the vasculature	4131	MAP1B	ORPHA:98892
HP:0002597	Abnormality of the vasculature	23327	NEDD4L	ORPHA:98892
HP:0002597	Abnormality of the vasculature	160418	TMTC3	ORPHA:98892
HP:0002597	Abnormality of the vasculature	10564	ARFGEF2	ORPHA:98892
HP:0002597	Abnormality of the vasculature	55780	ERMARD	ORPHA:98892
HP:0002597	Abnormality of the vasculature	23118	TAB2	OMIM:614980
HP:0002597	Abnormality of the vasculature	4621	MYH3	ORPHA:2990
HP:0002597	Abnormality of the vasculature	1146	CHRNG	ORPHA:2990
HP:0002597	Abnormality of the vasculature	51611	DPH5	OMIM:620070
HP:0002597	Abnormality of the vasculature	2317	FLNB	OMIM:150250
HP:0002597	Abnormality of the vasculature	1399	CRKL	ORPHA:261330
HP:0002597	Abnormality of the vasculature	113246	C12orf57	OMIM:218340
HP:0002597	Abnormality of the vasculature	63036	CELA2A	OMIM:618620
HP:0002597	Abnormality of the vasculature	6711	SPTBN1	OMIM:619475
HP:0002597	Abnormality of the vasculature	10056	FARSB	OMIM:613658
HP:0002597	Abnormality of the vasculature	4796	TONSL	ORPHA:93357
HP:0002597	Abnormality of the vasculature	57551	TAOK1	OMIM:619575
HP:0002597	Abnormality of the vasculature	171019	ADAMTS19	OMIM:620067
HP:0002597	Abnormality of the vasculature	2972	BRF1	ORPHA:444072
HP:0002597	Abnormality of the vasculature	10293	TRAIP	OMIM:616777
HP:0002597	Abnormality of the vasculature	10157	AASS	ORPHA:2203
HP:0002597	Abnormality of the vasculature	28952	CCDC22	OMIM:300963
HP:0002597	Abnormality of the vasculature	26191	PTPN22	ORPHA:397
HP:0002597	Abnormality of the vasculature	3123	HLA-DRB1	ORPHA:397
HP:0002597	Abnormality of the vasculature	8974	P4HA2	ORPHA:397
HP:0002597	Abnormality of the vasculature	286053	NSMCE2	OMIM:617253
HP:0002597	Abnormality of the vasculature	3756	KCNH1	OMIM:135500
HP:0002597	Abnormality of the vasculature	4851	NOTCH1	ORPHA:402075
HP:0002597	Abnormality of the vasculature	140628	GATA5	ORPHA:402075
HP:0002597	Abnormality of the vasculature	4091	SMAD6	ORPHA:402075
HP:0002597	Abnormality of the vasculature	5590	PRKCZ	ORPHA:1606
HP:0002597	Abnormality of the vasculature	2563	GABRD	ORPHA:1606
HP:0002597	Abnormality of the vasculature	23013	SPEN	ORPHA:1606
HP:0002597	Abnormality of the vasculature	8510	MMP23B	ORPHA:1606
HP:0002597	Abnormality of the vasculature	7798	LUZP1	ORPHA:1606
HP:0002597	Abnormality of the vasculature	6497	SKI	ORPHA:1606
HP:0002597	Abnormality of the vasculature	10630	PDPN	ORPHA:1606
HP:0002597	Abnormality of the vasculature	3339	HSPG2	ORPHA:1606
HP:0002597	Abnormality of the vasculature	10277	UBE4B	ORPHA:1606
HP:0002597	Abnormality of the vasculature	8514	KCNAB2	ORPHA:1606
HP:0002597	Abnormality of the vasculature	473	RERE	ORPHA:1606
HP:0002597	Abnormality of the vasculature	63976	PRDM16	ORPHA:1606
HP:0002597	Abnormality of the vasculature	54897	CASZ1	ORPHA:1606
HP:0002597	Abnormality of the vasculature	9723	SEMA3E	ORPHA:138
HP:0002597	Abnormality of the vasculature	30008	EFEMP2	OMIM:614437
HP:0002597	Abnormality of the vasculature	55249	YY1AP1	OMIM:602531
HP:0002597	Abnormality of the vasculature	9149	DYRK1B	OMIM:615812
HP:0002597	Abnormality of the vasculature	57104	PNPLA2	ORPHA:565612
HP:0002597	Abnormality of the vasculature	19	ABCA1	ORPHA:31150
HP:0002597	Abnormality of the vasculature	123606	NIPA1	ORPHA:261183
HP:0002597	Abnormality of the vasculature	7283	TUBG1	ORPHA:261183
HP:0002597	Abnormality of the vasculature	81614	NIPA2	ORPHA:261183
HP:0002597	Abnormality of the vasculature	3990	LIPC	ORPHA:140905
HP:0002597	Abnormality of the vasculature	84984	CEP19	OMIM:615703
HP:0002597	Abnormality of the vasculature	4205	MEF2A	OMIM:608320
HP:0002597	Abnormality of the vasculature	4040	LRP6	OMIM:610947
HP:0002597	Abnormality of the vasculature	4010	LMX1B	ORPHA:2614
HP:0002597	Abnormality of the vasculature	3198	HOXA1	OMIM:601536
HP:0002597	Abnormality of the vasculature	64093	SMOC1	ORPHA:1106
HP:0002597	Abnormality of the vasculature	1290	COL5A2	ORPHA:287
HP:0002597	Abnormality of the vasculature	5351	PLOD1	ORPHA:1900
HP:0002597	Abnormality of the vasculature	128	ADH5	OMIM:619151
HP:0002597	Abnormality of the vasculature	2294	FOXF1	OMIM:265380
HP:0002597	Abnormality of the vasculature	7490	WT1	OMIM:608978
HP:0002597	Abnormality of the vasculature	137814	NKX2-6	ORPHA:3384
HP:0002597	Abnormality of the vasculature	23129	PLXND1	ORPHA:3384
HP:0002597	Abnormality of the vasculature	1387	CREBBP	OMIM:180849
HP:0002597	Abnormality of the vasculature	2033	EP300	OMIM:180849
HP:0002597	Abnormality of the vasculature	54916	TMEM260	OMIM:617478
HP:0002597	Abnormality of the vasculature	25981	DNAH1	ORPHA:244
HP:0002597	Abnormality of the vasculature	115948	ODAD3	ORPHA:244
HP:0002597	Abnormality of the vasculature	54768	HYDIN	ORPHA:244
HP:0002597	Abnormality of the vasculature	352909	DNAAF3	ORPHA:244
HP:0002597	Abnormality of the vasculature	27148	STK36	ORPHA:244
HP:0002597	Abnormality of the vasculature	51314	NME8	ORPHA:244
HP:0002597	Abnormality of the vasculature	92749	DRC1	ORPHA:244
HP:0002597	Abnormality of the vasculature	54970	TTC12	ORPHA:244
HP:0002597	Abnormality of the vasculature	152110	NEK10	ORPHA:244
HP:0002597	Abnormality of the vasculature	8481	OFD1	ORPHA:244
HP:0002597	Abnormality of the vasculature	2302	FOXJ1	ORPHA:244
HP:0002597	Abnormality of the vasculature	221421	RSPH9	ORPHA:244
HP:0002597	Abnormality of the vasculature	85478	CCDC65	ORPHA:244
HP:0002597	Abnormality of the vasculature	55036	CCDC40	ORPHA:244
HP:0002597	Abnormality of the vasculature	51364	ZMYND10	ORPHA:244
HP:0002597	Abnormality of the vasculature	64446	DNAI2	ORPHA:244
HP:0002597	Abnormality of the vasculature	6674	SPAG1	ORPHA:244
HP:0002597	Abnormality of the vasculature	83544	DNAL1	ORPHA:244
HP:0002597	Abnormality of the vasculature	89765	RSPH1	ORPHA:244
HP:0002597	Abnormality of the vasculature	83538	ODAD4	ORPHA:244
HP:0002597	Abnormality of the vasculature	200373	CFAP221	ORPHA:244
HP:0002597	Abnormality of the vasculature	374407	DNAJB13	ORPHA:244
HP:0002597	Abnormality of the vasculature	55172	DNAAF2	ORPHA:244
HP:0002597	Abnormality of the vasculature	161582	DNAAF4	ORPHA:244
HP:0002597	Abnormality of the vasculature	2622	GAS8	ORPHA:244
HP:0002597	Abnormality of the vasculature	23639	DNAAF11	ORPHA:244
HP:0002597	Abnormality of the vasculature	27019	DNAI1	ORPHA:244
HP:0002597	Abnormality of the vasculature	345895	RSPH4A	ORPHA:244
HP:0002597	Abnormality of the vasculature	54919	DNAAF5	ORPHA:244
HP:0002597	Abnormality of the vasculature	6103	RPGR	ORPHA:244
HP:0002597	Abnormality of the vasculature	388389	CCDC103	ORPHA:244
HP:0002597	Abnormality of the vasculature	93233	ODAD1	ORPHA:244
HP:0002597	Abnormality of the vasculature	93233	ODAD1	OMIM:615067
HP:0002597	Abnormality of the vasculature	55130	ODAD2	ORPHA:244
HP:0002597	Abnormality of the vasculature	1767	DNAH5	ORPHA:244
HP:0002597	Abnormality of the vasculature	83861	RSPH3	ORPHA:244
HP:0002597	Abnormality of the vasculature	345643	MCIDAS	ORPHA:244
HP:0002597	Abnormality of the vasculature	56683	CFAP298	ORPHA:244
HP:0002597	Abnormality of the vasculature	79925	SPEF2	ORPHA:244
HP:0002597	Abnormality of the vasculature	10309	CCNO	ORPHA:244
HP:0002597	Abnormality of the vasculature	115399	LRRC56	ORPHA:244
HP:0002597	Abnormality of the vasculature	139212	DNAAF6	ORPHA:244
HP:0002597	Abnormality of the vasculature	123872	DNAAF1	ORPHA:244
HP:0002597	Abnormality of the vasculature	85016	CFAP300	ORPHA:244
HP:0002597	Abnormality of the vasculature	339829	CCDC39	ORPHA:244
HP:0002597	Abnormality of the vasculature	8701	DNAH11	ORPHA:244
HP:0002597	Abnormality of the vasculature	1770	DNAH9	ORPHA:244
HP:0002597	Abnormality of the vasculature	246176	GAS2L2	ORPHA:244
HP:0002597	Abnormality of the vasculature	10743	RAI1	ORPHA:477817
HP:0002597	Abnormality of the vasculature	10847	SRCAP	OMIM:136140
HP:0002597	Abnormality of the vasculature	10847	SRCAP	ORPHA:2044
HP:0002597	Abnormality of the vasculature	2187	FANCB	OMIM:314390
HP:0002597	Abnormality of the vasculature	7547	ZIC3	OMIM:314390
HP:0002597	Abnormality of the vasculature	55181	SMG8	OMIM:619268
HP:0002597	Abnormality of the vasculature	374879	ZNF699	OMIM:619488
HP:0002597	Abnormality of the vasculature	7386	UQCRFS1	OMIM:618775
HP:0002597	Abnormality of the vasculature	1822	ATN1	OMIM:618494
HP:0002597	Abnormality of the vasculature	4281	MID1	ORPHA:2745
HP:0002597	Abnormality of the vasculature	2783	GNB2	OMIM:619503
HP:0002597	Abnormality of the vasculature	8241	RBM10	ORPHA:2886
HP:0002597	Abnormality of the vasculature	7703	PCGF2	OMIM:618371
HP:0002597	Abnormality of the vasculature	1289	COL5A1	OMIM:619329
HP:0002597	Abnormality of the vasculature	538	ATP7A	OMIM:304150
HP:0002597	Abnormality of the vasculature	10526	IPO8	OMIM:619472
HP:0002597	Abnormality of the vasculature	64135	IFIH1	OMIM:182250
HP:0002597	Abnormality of the vasculature	10491	CRTAP	OMIM:610682
HP:0002597	Abnormality of the vasculature	2657	GDF1	OMIM:613854
HP:0002597	Abnormality of the vasculature	340419	RSPO2	OMIM:618021
HP:0002597	Abnormality of the vasculature	2137	EXTL3	ORPHA:508533
HP:0002597	Abnormality of the vasculature	9653	HS2ST1	OMIM:619194
HP:0002597	Abnormality of the vasculature	10484	SEC23A	ORPHA:50814
HP:0002597	Abnormality of the vasculature	10484	SEC23A	OMIM:607812
HP:0002597	Abnormality of the vasculature	1857	DVL3	ORPHA:3107
HP:0002597	Abnormality of the vasculature	7474	WNT5A	ORPHA:3107
HP:0002597	Abnormality of the vasculature	1855	DVL1	ORPHA:3107
HP:0002597	Abnormality of the vasculature	2535	FZD2	ORPHA:3107
HP:0002597	Abnormality of the vasculature	526	ATP6V1B2	ORPHA:79500
HP:0002597	Abnormality of the vasculature	57465	TBC1D24	ORPHA:79500
HP:0002597	Abnormality of the vasculature	22827	PUF60	ORPHA:508488
HP:0002597	Abnormality of the vasculature	3791	KDR	OMIM:602089
HP:0002597	Abnormality of the vasculature	129563	DIS3L2	ORPHA:2849
HP:0002597	Abnormality of the vasculature	7454	WAS	OMIM:301000
HP:0002597	Abnormality of the vasculature	64220	STRA6	OMIM:601186
HP:0002597	Abnormality of the vasculature	7473	WNT3	OMIM:273395
HP:0002597	Abnormality of the vasculature	10568	SLC34A2	ORPHA:60025
HP:0002597	Abnormality of the vasculature	4860	PNP	OMIM:613179
HP:0002597	Abnormality of the vasculature	81704	DOCK8	OMIM:243700
HP:0002597	Abnormality of the vasculature	10621	POLR3F	OMIM:619872
HP:0002597	Abnormality of the vasculature	672	BRCA1	ORPHA:84
HP:0002597	Abnormality of the vasculature	10459	MAD2L2	ORPHA:84
HP:0002597	Abnormality of the vasculature	7516	XRCC2	ORPHA:84
HP:0002597	Abnormality of the vasculature	29089	UBE2T	ORPHA:84
HP:0002597	Abnormality of the vasculature	675	BRCA2	ORPHA:84
HP:0002597	Abnormality of the vasculature	55120	FANCL	ORPHA:84
HP:0002597	Abnormality of the vasculature	2177	FANCD2	ORPHA:84
HP:0002597	Abnormality of the vasculature	2175	FANCA	ORPHA:84
HP:0002597	Abnormality of the vasculature	2176	FANCC	ORPHA:84
HP:0002597	Abnormality of the vasculature	2178	FANCE	ORPHA:84
HP:0002597	Abnormality of the vasculature	2188	FANCF	ORPHA:84
HP:0002597	Abnormality of the vasculature	2189	FANCG	ORPHA:84
HP:0002597	Abnormality of the vasculature	5888	RAD51	ORPHA:84
HP:0002597	Abnormality of the vasculature	5889	RAD51C	ORPHA:84
HP:0002597	Abnormality of the vasculature	55159	RFWD3	ORPHA:84
HP:0002597	Abnormality of the vasculature	83990	BRIP1	ORPHA:84
HP:0002597	Abnormality of the vasculature	57697	FANCM	ORPHA:84
HP:0002597	Abnormality of the vasculature	79728	PALB2	ORPHA:84
HP:0002597	Abnormality of the vasculature	84464	SLX4	ORPHA:84
HP:0002597	Abnormality of the vasculature	2072	ERCC4	ORPHA:84
HP:0002597	Abnormality of the vasculature	55215	FANCI	ORPHA:84
HP:0002597	Abnormality of the vasculature	10283	CWC27	ORPHA:166035
HP:0002597	Abnormality of the vasculature	100	ADA	OMIM:102700
HP:0002597	Abnormality of the vasculature	6909	TBX2	OMIM:618223
HP:0002597	Abnormality of the vasculature	8085	KMT2D	OMIM:620186
HP:0002597	Abnormality of the vasculature	64421	DCLRE1C	OMIM:602450
HP:0002597	Abnormality of the vasculature	641	BLM	OMIM:210900
HP:0002597	Abnormality of the vasculature	595	CCND1	OMIM:193300
HP:0002597	Abnormality of the vasculature	7428	VHL	OMIM:193300
HP:0002597	Abnormality of the vasculature	55388	MCM10	OMIM:619313
HP:0002597	Abnormality of the vasculature	5649	RELN	ORPHA:89844
HP:0002597	Abnormality of the vasculature	10300	KATNB1	ORPHA:89844
HP:0002597	Abnormality of the vasculature	5318	PKP2	OMIM:609040
HP:0002597	Abnormality of the vasculature	10516	FBLN5	ORPHA:90348
HP:0002597	Abnormality of the vasculature	10516	FBLN5	ORPHA:90349
HP:0002597	Abnormality of the vasculature	5832	ALDH18A1	ORPHA:90348
HP:0002597	Abnormality of the vasculature	4052	LTBP1	ORPHA:90349
HP:0002597	Abnormality of the vasculature	54820	NDE1	ORPHA:2177
HP:0002597	Abnormality of the vasculature	4878	NPPA	OMIM:615745
HP:0002597	Abnormality of the vasculature	29925	GMPPB	ORPHA:363623
HP:0002597	Abnormality of the vasculature	54914	FOCAD	OMIM:619991
HP:0002597	Abnormality of the vasculature	2321	FLT1	ORPHA:275555
HP:0002597	Abnormality of the vasculature	219736	STOX1	ORPHA:275555
HP:0002597	Abnormality of the vasculature	10699	CORIN	ORPHA:275555
HP:0002597	Abnormality of the vasculature	1376	CPT2	OMIM:608836
HP:0002597	Abnormality of the vasculature	5310	PKD1	OMIM:173900
HP:0002597	Abnormality of the vasculature	7049	TGFBR3	ORPHA:231160
HP:0002597	Abnormality of the vasculature	83854	ANGPTL6	ORPHA:231160
HP:0002597	Abnormality of the vasculature	170302	ARX	ORPHA:94083
HP:0002597	Abnormality of the vasculature	1616	DAXX	ORPHA:100075
HP:0002597	Abnormality of the vasculature	55275	VPS53	OMIM:615851
HP:0002597	Abnormality of the vasculature	10093	ARPC4	OMIM:620141
HP:0002597	Abnormality of the vasculature	2815	GP9	ORPHA:274
HP:0002597	Abnormality of the vasculature	5568	PRKACG	OMIM:616176
HP:0002597	Abnormality of the vasculature	84342	COG8	ORPHA:95428
HP:0002597	Abnormality of the vasculature	831	CAST	OMIM:616295
HP:0002597	Abnormality of the vasculature	9401	RECQL4	OMIM:218600
HP:0002597	Abnormality of the vasculature	23545	ATP6V0A2	ORPHA:2834
HP:0002597	Abnormality of the vasculature	23545	ATP6V0A2	ORPHA:357074
HP:0002597	Abnormality of the vasculature	5468	PPARG	ORPHA:79083
HP:0002597	Abnormality of the vasculature	523	ATP6V1A	ORPHA:357074
HP:0002597	Abnormality of the vasculature	529	ATP6V1E1	ORPHA:357074
HP:0002597	Abnormality of the vasculature	4247	MGAT2	OMIM:212066
HP:0002597	Abnormality of the vasculature	5447	POR	ORPHA:95699
HP:0002597	Abnormality of the vasculature	157570	ESCO2	OMIM:268300
HP:0002597	Abnormality of the vasculature	5184	PEPD	OMIM:170100
HP:0002597	Abnormality of the vasculature	2737	GLI3	ORPHA:672
HP:0002597	Abnormality of the vasculature	2737	GLI3	OMIM:146510
HP:0002597	Abnormality of the vasculature	10225	CD96	ORPHA:1308
HP:0002597	Abnormality of the vasculature	8626	TP63	ORPHA:69085
HP:0002597	Abnormality of the vasculature	80169	CTC1	OMIM:612199
HP:0002597	Abnormality of the vasculature	2483	FRG1	OMIM:158900
HP:0002597	Abnormality of the vasculature	29072	SETD2	OMIM:620157
HP:0002597	Abnormality of the vasculature	29072	SETD2	OMIM:620155
HP:0002597	Abnormality of the vasculature	79991	STN1	OMIM:617341
HP:0002597	Abnormality of the vasculature	5111	PCNA	ORPHA:438134
HP:0002597	Abnormality of the vasculature	4536	MT-ND2	ORPHA:104
HP:0002597	Abnormality of the vasculature	4720	NDUFS2	ORPHA:104
HP:0002597	Abnormality of the vasculature	4519	MT-CYB	ORPHA:104
HP:0002597	Abnormality of the vasculature	4539	MT-ND4L	ORPHA:104
HP:0002597	Abnormality of the vasculature	85465	SELENOI	ORPHA:506353
HP:0002597	Abnormality of the vasculature	4750	NEK1	ORPHA:2751
HP:0002597	Abnormality of the vasculature	726	CAPN5	OMIM:193235
HP:0002597	Abnormality of the vasculature	889	KRIT1	OMIM:116860
HP:0002597	Abnormality of the vasculature	7399	USH2A	OMIM:613809
HP:0002597	Abnormality of the vasculature	7401	CLRN1	OMIM:614180
HP:0002597	Abnormality of the vasculature	10594	PRPF8	OMIM:600059
HP:0002597	Abnormality of the vasculature	25794	FSCN2	OMIM:607921
HP:0002597	Abnormality of the vasculature	1121	CHM	OMIM:303100
HP:0002597	Abnormality of the vasculature	4117	MAK	OMIM:614181
HP:0002597	Abnormality of the vasculature	9785	DHX38	OMIM:618220
HP:0002597	Abnormality of the vasculature	157657	CFAP418	OMIM:614500
HP:0002597	Abnormality of the vasculature	94137	RP1L1	OMIM:618826
HP:0002597	Abnormality of the vasculature	3035	HARS1	OMIM:614504
HP:0002597	Abnormality of the vasculature	6010	RHO	OMIM:613731
HP:0002597	Abnormality of the vasculature	6010	RHO	ORPHA:52427
HP:0002597	Abnormality of the vasculature	5145	PDE6A	OMIM:613810
HP:0002597	Abnormality of the vasculature	84839	RAX2	OMIM:620102
HP:0002597	Abnormality of the vasculature	130557	ZNF513	OMIM:613617
HP:0002597	Abnormality of the vasculature	25914	RTTN	ORPHA:468631
HP:0002597	Abnormality of the vasculature	5961	PRPH2	OMIM:608133
HP:0002597	Abnormality of the vasculature	5961	PRPH2	ORPHA:52427
HP:0002597	Abnormality of the vasculature	6094	ROM1	OMIM:608133
HP:0002597	Abnormality of the vasculature	49855	SCAPER	OMIM:618195
HP:0002597	Abnormality of the vasculature	6101	RP1	OMIM:180100
HP:0002597	Abnormality of the vasculature	3000	GUCY2D	OMIM:601777
HP:0002597	Abnormality of the vasculature	3000	GUCY2D	OMIM:204000
HP:0002597	Abnormality of the vasculature	6017	RLBP1	ORPHA:52427
HP:0002597	Abnormality of the vasculature	5959	RDH5	ORPHA:52427
HP:0002597	Abnormality of the vasculature	9227	LRAT	ORPHA:364055
HP:0002597	Abnormality of the vasculature	55812	SPATA7	ORPHA:364055
HP:0002597	Abnormality of the vasculature	6121	RPE65	ORPHA:364055
HP:0002597	Abnormality of the vasculature	6121	RPE65	OMIM:204100
HP:0002597	Abnormality of the vasculature	6121	RPE65	OMIM:613794
HP:0002597	Abnormality of the vasculature	167691	LCA5	ORPHA:364055
HP:0002597	Abnormality of the vasculature	64801	ARV1	OMIM:617020
HP:0002597	Abnormality of the vasculature	50939	IMPG2	OMIM:613581
HP:0002597	Abnormality of the vasculature	8842	PROM1	OMIM:612095
HP:0002597	Abnormality of the vasculature	92211	CDHR1	OMIM:613660
HP:0002597	Abnormality of the vasculature	5148	PDE6G	OMIM:613582
HP:0002597	Abnormality of the vasculature	60509	AGBL5	OMIM:617023
HP:0002597	Abnormality of the vasculature	123016	TTC8	OMIM:613464
HP:0002597	Abnormality of the vasculature	3420	IDH3B	OMIM:612572
HP:0002597	Abnormality of the vasculature	24148	PRPF6	OMIM:613983
HP:0002597	Abnormality of the vasculature	92840	REEP6	OMIM:617304
HP:0002597	Abnormality of the vasculature	9128	PRPF4	OMIM:615922
HP:0002597	Abnormality of the vasculature	3419	IDH3A	OMIM:619007
HP:0002597	Abnormality of the vasculature	85015	USP45	OMIM:618513
HP:0002597	Abnormality of the vasculature	768206	PRCD	OMIM:610599
HP:0002597	Abnormality of the vasculature	388939	PCARE	OMIM:613428
HP:0002597	Abnormality of the vasculature	23020	SNRNP200	OMIM:610359
HP:0002597	Abnormality of the vasculature	6742	SSBP1	OMIM:165510
HP:0002597	Abnormality of the vasculature	346007	EYS	OMIM:602772
HP:0002597	Abnormality of the vasculature	3105	HLA-A	ORPHA:179
HP:0002597	Abnormality of the vasculature	10210	TOPORS	OMIM:609923
HP:0002597	Abnormality of the vasculature	22926	ATF6	ORPHA:49382
HP:0002597	Abnormality of the vasculature	5146	PDE6C	ORPHA:49382
HP:0002597	Abnormality of the vasculature	5149	PDE6H	ORPHA:49382
HP:0002597	Abnormality of the vasculature	2780	GNAT2	ORPHA:49382
HP:0002597	Abnormality of the vasculature	1261	CNGA3	ORPHA:49382
HP:0002597	Abnormality of the vasculature	54714	CNGB3	ORPHA:49382
HP:0002597	Abnormality of the vasculature	24	ABCA4	OMIM:604116
HP:0002597	Abnormality of the vasculature	24	ABCA4	OMIM:601718
HP:0002597	Abnormality of the vasculature	83723	TLCD3B	OMIM:619531
HP:0002597	Abnormality of the vasculature	112752	IFT43	OMIM:617871
HP:0002597	Abnormality of the vasculature	7275	TUB	OMIM:616188
HP:0002597	Abnormality of the vasculature	64218	SEMA4A	OMIM:610283
HP:0002597	Abnormality of the vasculature	4901	NRL	OMIM:613750
HP:0002597	Abnormality of the vasculature	9187	SLC24A1	OMIM:613830
HP:0002597	Abnormality of the vasculature	1259	CNGA1	OMIM:613756
HP:0002597	Abnormality of the vasculature	51109	RDH11	OMIM:616108
HP:0002597	Abnormality of the vasculature	84100	ARL6	OMIM:209900
HP:0002597	Abnormality of the vasculature	79140	CCDC28B	OMIM:209900
HP:0002597	Abnormality of the vasculature	582	BBS1	OMIM:209900
HP:0002597	Abnormality of the vasculature	26504	CNNM4	OMIM:217080
HP:0002597	Abnormality of the vasculature	6533	SLC6A6	OMIM:145350
HP:0002597	Abnormality of the vasculature	64802	NMNAT1	OMIM:608553
HP:0002597	Abnormality of the vasculature	64802	NMNAT1	OMIM:619260
HP:0002597	Abnormality of the vasculature	23746	AIPL1	OMIM:604393
HP:0002597	Abnormality of the vasculature	3614	IMPDH1	OMIM:180105
HP:0002597	Abnormality of the vasculature	403	ARL3	OMIM:618173
HP:0002597	Abnormality of the vasculature	23418	CRB1	OMIM:600105
HP:0002597	Abnormality of the vasculature	23155	CLCC1	OMIM:609913
HP:0002597	Abnormality of the vasculature	116150	NUS1	OMIM:617082
HP:0002597	Abnormality of the vasculature	2257	FGF12	OMIM:617166
HP:0002597	Abnormality of the vasculature	375298	CERKL	OMIM:608380
HP:0002597	Abnormality of the vasculature	27241	BBS9	OMIM:615986
HP:0002597	Abnormality of the vasculature	57670	KIAA1549	OMIM:618613
HP:0002597	Abnormality of the vasculature	7287	TULP1	OMIM:613843
HP:0002597	Abnormality of the vasculature	5995	RGR	OMIM:613769
HP:0002597	Abnormality of the vasculature	5158	PDE6B	OMIM:613801
HP:0002597	Abnormality of the vasculature	145226	RDH12	OMIM:612712
HP:0002597	Abnormality of the vasculature	28982	FLVCR1	OMIM:609033
HP:0002597	Abnormality of the vasculature	4653	MYOC	OMIM:137750
HP:0002597	Abnormality of the vasculature	2296	FOXC1	OMIM:601631
HP:0002597	Abnormality of the vasculature	2161	F12	ORPHA:330
HP:0002597	Abnormality of the vasculature	7439	BEST1	OMIM:193220
HP:0002597	Abnormality of the vasculature	9129	PRPF3	OMIM:601414
HP:0002597	Abnormality of the vasculature	23568	ARL2BP	ORPHA:791
HP:0002597	Abnormality of the vasculature	54806	AHI1	ORPHA:791
HP:0002597	Abnormality of the vasculature	4751	NEK2	ORPHA:791
HP:0002597	Abnormality of the vasculature	8100	IFT88	ORPHA:791
HP:0002597	Abnormality of the vasculature	762	CA4	ORPHA:791
HP:0002597	Abnormality of the vasculature	196	AHR	ORPHA:791
HP:0002597	Abnormality of the vasculature	1406	CRX	ORPHA:791
HP:0002597	Abnormality of the vasculature	26121	PRPF31	ORPHA:791
HP:0002597	Abnormality of the vasculature	583	BBS2	ORPHA:791
HP:0002597	Abnormality of the vasculature	10461	MERTK	ORPHA:791
HP:0002597	Abnormality of the vasculature	57709	SLC7A14	ORPHA:791
HP:0002597	Abnormality of the vasculature	23370	ARHGEF18	ORPHA:791
HP:0002597	Abnormality of the vasculature	5949	RBP3	ORPHA:791
HP:0002597	Abnormality of the vasculature	6100	RP9	ORPHA:791
HP:0002597	Abnormality of the vasculature	10002	NR2E3	ORPHA:791
HP:0002597	Abnormality of the vasculature	84140	FAM161A	ORPHA:791
HP:0002597	Abnormality of the vasculature	55624	POMGNT1	ORPHA:791
HP:0002597	Abnormality of the vasculature	2979	GUCA1B	ORPHA:791
HP:0002597	Abnormality of the vasculature	1258	CNGB1	ORPHA:791
HP:0002597	Abnormality of the vasculature	55975	KLHL7	ORPHA:791
HP:0002597	Abnormality of the vasculature	3617	IMPG1	ORPHA:791
HP:0002597	Abnormality of the vasculature	6102	RP2	ORPHA:791
HP:0002597	Abnormality of the vasculature	55857	KIZ	ORPHA:791
HP:0002597	Abnormality of the vasculature	6295	SAG	ORPHA:791
HP:0002597	Abnormality of the vasculature	79947	DHDDS	ORPHA:791
HP:0002597	Abnormality of the vasculature	22947	DUX4L1	ORPHA:269
HP:0002597	Abnormality of the vasculature	1789	DNMT3B	ORPHA:269
HP:0002597	Abnormality of the vasculature	23347	SMCHD1	ORPHA:269
HP:0002597	Abnormality of the vasculature	100288687	DUX4	ORPHA:269
HP:0002597	Abnormality of the vasculature	4773	NFATC2	OMIM:620232
HP:0002597	Abnormality of the vasculature	1743	DLST	ORPHA:29072
HP:0002597	Abnormality of the vasculature	4191	MDH2	ORPHA:29072
HP:0002597	Abnormality of the vasculature	5979	RET	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6389	SDHA	ORPHA:29072
HP:0002597	Abnormality of the vasculature	23095	KIF1B	ORPHA:29072
HP:0002597	Abnormality of the vasculature	2271	FH	ORPHA:29072
HP:0002597	Abnormality of the vasculature	8402	SLC25A11	ORPHA:29072
HP:0002597	Abnormality of the vasculature	54949	SDHAF2	ORPHA:29072
HP:0002597	Abnormality of the vasculature	55654	TMEM127	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6391	SDHC	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6392	SDHD	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6390	SDHB	ORPHA:29072
HP:0002597	Abnormality of the vasculature	4149	MAX	ORPHA:29072
HP:0002597	Abnormality of the vasculature	204	AK2	ORPHA:33355
HP:0002597	Abnormality of the vasculature	199857	ALG14	OMIM:619036
HP:0002597	Abnormality of the vasculature	57216	VANGL2	ORPHA:563609
HP:0002597	Abnormality of the vasculature	427	ASAH1	ORPHA:333
HP:0002597	Abnormality of the vasculature	427	ASAH1	OMIM:228000
HP:0002597	Abnormality of the vasculature	5476	CTSA	ORPHA:351
HP:0002597	Abnormality of the vasculature	5476	CTSA	OMIM:256540
HP:0002597	Abnormality of the vasculature	6609	SMPD1	ORPHA:77293
HP:0002597	Abnormality of the vasculature	6609	SMPD1	OMIM:257200
HP:0002597	Abnormality of the vasculature	3074	HEXB	ORPHA:309155
HP:0002597	Abnormality of the vasculature	3074	HEXB	OMIM:268800
HP:0002597	Abnormality of the vasculature	2720	GLB1	OMIM:230500
HP:0002597	Abnormality of the vasculature	2720	GLB1	OMIM:230650
HP:0002597	Abnormality of the vasculature	2720	GLB1	ORPHA:79255
HP:0002597	Abnormality of the vasculature	2581	GALC	ORPHA:206436
HP:0002597	Abnormality of the vasculature	5660	PSAP	ORPHA:206436
HP:0002597	Abnormality of the vasculature	4758	NEU1	OMIM:256550
HP:0002597	Abnormality of the vasculature	4758	NEU1	ORPHA:93399
HP:0002597	Abnormality of the vasculature	4758	NEU1	ORPHA:812
HP:0002597	Abnormality of the vasculature	4758	NEU1	ORPHA:93400
HP:0002597	Abnormality of the vasculature	79583	TMEM231	ORPHA:2752
HP:0002597	Abnormality of the vasculature	3073	HEXA	OMIM:272800
HP:0002597	Abnormality of the vasculature	1615	DARS1	OMIM:615281
HP:0002597	Abnormality of the vasculature	2760	GM2A	ORPHA:309246
HP:0002597	Abnormality of the vasculature	10730	YME1L1	OMIM:617302
HP:0002597	Abnormality of the vasculature	6910	TBX5	ORPHA:392
HP:0002597	Abnormality of the vasculature	134701	RIPPLY2	ORPHA:2311
HP:0002597	Abnormality of the vasculature	10683	DLL3	ORPHA:2311
HP:0002597	Abnormality of the vasculature	3955	LFNG	ORPHA:2311
HP:0002597	Abnormality of the vasculature	145873	MESP2	ORPHA:2311
HP:0002597	Abnormality of the vasculature	8243	SMC1A	OMIM:301044
HP:0002597	Abnormality of the vasculature	5296	PIK3R2	OMIM:603387
HP:0002597	Abnormality of the vasculature	2235	FECH	OMIM:177000
HP:0002597	Abnormality of the vasculature	2235	FECH	ORPHA:79278
HP:0002597	Abnormality of the vasculature	3858	KRT10	OMIM:607602
HP:0002597	Abnormality of the vasculature	3848	KRT1	OMIM:620148
HP:0002597	Abnormality of the vasculature	3848	KRT1	ORPHA:530838
HP:0002597	Abnormality of the vasculature	362	AQP5	ORPHA:2337
HP:0002597	Abnormality of the vasculature	7051	TGM1	ORPHA:281127
HP:0002597	Abnormality of the vasculature	162514	TRPV3	ORPHA:659
HP:0002597	Abnormality of the vasculature	64065	PERP	ORPHA:659
HP:0002597	Abnormality of the vasculature	27032	ATP2C1	ORPHA:2841
HP:0002597	Abnormality of the vasculature	27032	ATP2C1	OMIM:169600
HP:0002597	Abnormality of the vasculature	1956	EGFR	ORPHA:294023
HP:0002597	Abnormality of the vasculature	3849	KRT2	ORPHA:455
HP:0002597	Abnormality of the vasculature	10320	IKZF1	ORPHA:36426
HP:0002597	Abnormality of the vasculature	50814	NSDHL	OMIM:308050
HP:0002597	Abnormality of the vasculature	26525	IL36RN	OMIM:614204
HP:0002597	Abnormality of the vasculature	1508	CTSB	ORPHA:50943
HP:0002597	Abnormality of the vasculature	1508	CTSB	OMIM:148370
HP:0002597	Abnormality of the vasculature	84818	IL17RC	ORPHA:1334
HP:0002597	Abnormality of the vasculature	64581	CLEC7A	ORPHA:1334
HP:0002597	Abnormality of the vasculature	23765	IL17RA	ORPHA:1334
HP:0002597	Abnormality of the vasculature	10758	TRAF3IP2	ORPHA:1334
HP:0002597	Abnormality of the vasculature	112744	IL17F	ORPHA:1334
HP:0002597	Abnormality of the vasculature	1832	DSP	OMIM:615821
HP:0002597	Abnormality of the vasculature	2752	GLUL	OMIM:610015
HP:0002597	Abnormality of the vasculature	2707	GJB3	ORPHA:317
HP:0002597	Abnormality of the vasculature	2531	KDSR	ORPHA:317
HP:0002597	Abnormality of the vasculature	2531	KDSR	ORPHA:316
HP:0002597	Abnormality of the vasculature	2531	KDSR	OMIM:617526
HP:0002597	Abnormality of the vasculature	127534	GJB4	ORPHA:317
HP:0002597	Abnormality of the vasculature	127534	GJB4	OMIM:617524
HP:0002597	Abnormality of the vasculature	9333	TGM5	OMIM:609796
HP:0002597	Abnormality of the vasculature	9333	TGM5	ORPHA:263534
HP:0002597	Abnormality of the vasculature	1174	AP1S1	OMIM:609313
HP:0002597	Abnormality of the vasculature	54795	TRPM4	ORPHA:316
HP:0002597	Abnormality of the vasculature	4014	LORICRIN	ORPHA:316
HP:0002597	Abnormality of the vasculature	3889	KRT83	ORPHA:316
HP:0002597	Abnormality of the vasculature	242	ALOX12B	OMIM:242100
HP:0002597	Abnormality of the vasculature	59344	ALOXE3	OMIM:242100
HP:0002597	Abnormality of the vasculature	59344	ALOXE3	OMIM:606545
HP:0002597	Abnormality of the vasculature	6820	SULT2B1	OMIM:617571
HP:0002597	Abnormality of the vasculature	4035	LRP1	OMIM:604093
HP:0002597	Abnormality of the vasculature	4035	LRP1	ORPHA:79100
HP:0002597	Abnormality of the vasculature	3675	ITGA3	OMIM:614748
HP:0002597	Abnormality of the vasculature	643418	LIPN	OMIM:613943
HP:0002597	Abnormality of the vasculature	147409	DSG4	OMIM:607903
HP:0002597	Abnormality of the vasculature	55739	NAXD	OMIM:618321
HP:0002597	Abnormality of the vasculature	64377	CHST8	OMIM:616265
HP:0002597	Abnormality of the vasculature	1475	CSTA	ORPHA:263534
HP:0002597	Abnormality of the vasculature	4921	DDR2	OMIM:618175
HP:0002597	Abnormality of the vasculature	667	DST	OMIM:614653
HP:0002597	Abnormality of the vasculature	3861	KRT14	ORPHA:79396
HP:0002597	Abnormality of the vasculature	219972	MPEG1	OMIM:619223
HP:0002597	Abnormality of the vasculature	718	C3	OMIM:613779
HP:0002597	Abnormality of the vasculature	8737	RIPK1	OMIM:618852
HP:0002597	Abnormality of the vasculature	3514	IGKC	ORPHA:183675
HP:0002597	Abnormality of the vasculature	3501	IGHG2	ORPHA:183675
HP:0002597	Abnormality of the vasculature	1991	ELANE	ORPHA:2686
HP:0002597	Abnormality of the vasculature	4644	MYO5A	OMIM:214450
HP:0002597	Abnormality of the vasculature	4953	ODC1	ORPHA:544488
HP:0002597	Abnormality of the vasculature	11235	PDCD10	ORPHA:221061
HP:0002597	Abnormality of the vasculature	83605	CCM2	ORPHA:221061
HP:0002597	Abnormality of the vasculature	5337	PLD1	OMIM:212093
HP:0002597	Abnormality of the vasculature	8802	SUCLG1	ORPHA:17
HP:0002597	Abnormality of the vasculature	8496	PPFIBP1	OMIM:620024
HP:0002597	Abnormality of the vasculature	5718	PSMD12	ORPHA:529962
HP:0002597	Abnormality of the vasculature	2186	BPTF	ORPHA:529962
HP:0002597	Abnormality of the vasculature	808	CALM3	OMIM:618782
HP:0002597	Abnormality of the vasculature	54892	NCAPG2	OMIM:618460
HP:0002597	Abnormality of the vasculature	55784	MCTP2	ORPHA:1596
HP:0002597	Abnormality of the vasculature	5567	PRKACB	OMIM:619143
HP:0002597	Abnormality of the vasculature	51780	KDM3B	OMIM:618846
HP:0002597	Abnormality of the vasculature	3712	IVD	OMIM:243500
HP:0002597	Abnormality of the vasculature	5095	PCCA	OMIM:606054
HP:0002597	Abnormality of the vasculature	5096	PCCB	OMIM:606054
HP:0002597	Abnormality of the vasculature	1776	DNASE1L3	ORPHA:36412
HP:0002597	Abnormality of the vasculature	11198	SUPT16H	OMIM:619480
HP:0002597	Abnormality of the vasculature	10999	SLC27A4	OMIM:608649
HP:0002597	Abnormality of the vasculature	5336	PLCG2	OMIM:614468
HP:0002597	Abnormality of the vasculature	3594	IL12RB1	ORPHA:186
HP:0002597	Abnormality of the vasculature	23534	TNPO3	ORPHA:186
HP:0002597	Abnormality of the vasculature	6689	SPIB	ORPHA:186
HP:0002597	Abnormality of the vasculature	5450	POU2AF1	ORPHA:186
HP:0002597	Abnormality of the vasculature	9966	TNFSF15	ORPHA:186
HP:0002597	Abnormality of the vasculature	79258	MMEL1	ORPHA:186
HP:0002597	Abnormality of the vasculature	710	SERPING1	ORPHA:100050
HP:0002597	Abnormality of the vasculature	3815	KIT	ORPHA:79455
HP:0002597	Abnormality of the vasculature	30817	ADGRE2	OMIM:125630
HP:0002597	Abnormality of the vasculature	80232	WDR26	ORPHA:513456
HP:0002597	Abnormality of the vasculature	80232	WDR26	OMIM:617616
HP:0002597	Abnormality of the vasculature	79989	IFT56	OMIM:619534
HP:0002597	Abnormality of the vasculature	93	ACVR2B	OMIM:613751
HP:0002597	Abnormality of the vasculature	220136	CFAP53	OMIM:614779
HP:0002597	Abnormality of the vasculature	55636	CHD7	OMIM:214800
HP:0002597	Abnormality of the vasculature	100128908	CIROP	OMIM:619702
HP:0002597	Abnormality of the vasculature	10992	SF3B2	OMIM:164210
HP:0002597	Abnormality of the vasculature	118856	MMP21	OMIM:616749
HP:0002597	Abnormality of the vasculature	10525	HYOU1	OMIM:233600
HP:0002597	Abnormality of the vasculature	7317	UBA1	OMIM:301054
HP:0002597	Abnormality of the vasculature	6885	MAP3K7	OMIM:157800
HP:0002597	Abnormality of the vasculature	5518	PPP2R1A	ORPHA:457284
HP:0002597	Abnormality of the vasculature	10195	ALG3	ORPHA:79321
HP:0002597	Abnormality of the vasculature	1581	CYP7A1	ORPHA:209902
HP:0002597	Abnormality of the vasculature	4488	MSX2	ORPHA:60015
HP:0002597	Abnormality of the vasculature	60529	ALX4	ORPHA:60015
HP:0002597	Abnormality of the vasculature	4763	NF1	ORPHA:97685
HP:0002597	Abnormality of the vasculature	1281	COL3A1	OMIM:130050
HP:0002597	Abnormality of the vasculature	2301	FOXE3	OMIM:617349
HP:0002597	Abnormality of the vasculature	2301	FOXE3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4088	SMAD3	OMIM:613795
HP:0002597	Abnormality of the vasculature	4088	SMAD3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	11117	EMILIN1	OMIM:620080
HP:0002597	Abnormality of the vasculature	5592	PRKG1	OMIM:615436
HP:0002597	Abnormality of the vasculature	5592	PRKG1	ORPHA:91387
HP:0002597	Abnormality of the vasculature	59	ACTA2	OMIM:611788
HP:0002597	Abnormality of the vasculature	59	ACTA2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4015	LOX	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4087	SMAD2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	7043	TGFB3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	7042	TGFB2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4089	SMAD4	ORPHA:91387
HP:0002597	Abnormality of the vasculature	2200	FBN1	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4144	MAT2A	ORPHA:91387
HP:0002597	Abnormality of the vasculature	23493	HEY2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	8076	MFAP5	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4638	MYLK	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4638	MYLK	OMIM:613780
HP:0002597	Abnormality of the vasculature	8294	H4C9	OMIM:619951
HP:0002597	Abnormality of the vasculature	3020	H3-3A	OMIM:619720
HP:0002597	Abnormality of the vasculature	1182	CLCN3	OMIM:619512
HP:0002597	Abnormality of the vasculature	1182	CLCN3	OMIM:619517
HP:0002597	Abnormality of the vasculature	6477	SIAH1	OMIM:619314
HP:0002597	Abnormality of the vasculature	85365	ALG2	OMIM:607906
HP:0002597	Abnormality of the vasculature	51111	KMT5B	OMIM:617788
HP:0002597	Abnormality of the vasculature	1641	DCX	ORPHA:2148
HP:0002597	Abnormality of the vasculature	5361	PLXNA1	OMIM:619955
HP:0002597	Abnormality of the vasculature	5048	PAFAH1B1	OMIM:607432
HP:0002597	Abnormality of the vasculature	5048	PAFAH1B1	ORPHA:95232
HP:0002597	Abnormality of the vasculature	57688	ZSWIM6	OMIM:603671
HP:0002597	Abnormality of the vasculature	4016	LOXL1	OMIM:177650
HP:0002597	Abnormality of the vasculature	23474	ETHE1	ORPHA:51188
HP:0002597	Abnormality of the vasculature	26160	IFT172	OMIM:619471
HP:0002597	Abnormality of the vasculature	9993	DGCR2	OMIM:192430
HP:0002597	Abnormality of the vasculature	8220	ESS2	OMIM:192430
HP:0002597	Abnormality of the vasculature	8214	DGCR6	OMIM:192430
HP:0002597	Abnormality of the vasculature	54487	DGCR8	OMIM:192430
HP:0002597	Abnormality of the vasculature	1063	CENPF	OMIM:243605
HP:0002597	Abnormality of the vasculature	92949	ADAMTSL1	ORPHA:521445
HP:0002597	Abnormality of the vasculature	6135	RPL11	ORPHA:124
HP:0002597	Abnormality of the vasculature	6138	RPL15	ORPHA:124
HP:0002597	Abnormality of the vasculature	6229	RPS24	ORPHA:124
HP:0002597	Abnormality of the vasculature	6125	RPL5	ORPHA:124
HP:0002597	Abnormality of the vasculature	6204	RPS10	ORPHA:124
HP:0002597	Abnormality of the vasculature	6224	RPS20	ORPHA:124
HP:0002597	Abnormality of the vasculature	6165	RPL35A	ORPHA:124
HP:0002597	Abnormality of the vasculature	6223	RPS19	ORPHA:124
HP:0002597	Abnormality of the vasculature	6232	RPS27	ORPHA:124
HP:0002597	Abnormality of the vasculature	6231	RPS26	ORPHA:124
HP:0002597	Abnormality of the vasculature	11224	RPL35	ORPHA:124
HP:0002597	Abnormality of the vasculature	6160	RPL31	ORPHA:124
HP:0002597	Abnormality of the vasculature	6218	RPS17	ORPHA:124
HP:0002597	Abnormality of the vasculature	6201	RPS7	ORPHA:124
HP:0002597	Abnormality of the vasculature	6155	RPL27	ORPHA:124
HP:0002597	Abnormality of the vasculature	6154	RPL26	ORPHA:124
HP:0002597	Abnormality of the vasculature	6210	RPS15A	ORPHA:124
HP:0002597	Abnormality of the vasculature	90121	TSR2	ORPHA:124
HP:0002597	Abnormality of the vasculature	6141	RPL18	ORPHA:124
HP:0002597	Abnormality of the vasculature	6235	RPS29	ORPHA:124
HP:0002597	Abnormality of the vasculature	6234	RPS28	ORPHA:124
HP:0002597	Abnormality of the vasculature	7512	XPNPEP2	ORPHA:100057
HP:0002597	Abnormality of the vasculature	8985	PLOD3	OMIM:612394
HP:0002597	Abnormality of the vasculature	10625	IVNS1ABP	OMIM:618969
HP:0002597	Abnormality of the vasculature	3932	LCK	OMIM:615758
HP:0002597	Abnormality of the vasculature	462	SERPINC1	OMIM:613118
HP:0002597	Abnormality of the vasculature	2202	EFEMP1	ORPHA:98977
HP:0002597	Abnormality of the vasculature	1545	CYP1B1	ORPHA:98977
HP:0002597	Abnormality of the vasculature	7045	TGFBI	ORPHA:98964
HP:0002597	Abnormality of the vasculature	3490	IGFBP7	OMIM:614224
HP:0002597	Abnormality of the vasculature	5915	RARB	ORPHA:2470
HP:0002597	Abnormality of the vasculature	2702	GJA5	OMIM:612474
HP:0002597	Abnormality of the vasculature	2703	GJA8	OMIM:612474
HP:0002597	Abnormality of the vasculature	7286	TUFT1	OMIM:607655
HP:0002597	Abnormality of the vasculature	80326	WNT10A	OMIM:257980
HP:0002597	Abnormality of the vasculature	2697	GJA1	OMIM:104100
HP:0002597	Abnormality of the vasculature	51434	ANAPC7	OMIM:619699
HP:0002597	Abnormality of the vasculature	2492	FSHR	ORPHA:64739
HP:0002597	Abnormality of the vasculature	4233	MET	ORPHA:33402
HP:0002597	Abnormality of the vasculature	93183	PIGM	OMIM:610293
HP:0002597	Abnormality of the vasculature	84667	HES7	OMIM:613686
HP:0002597	Abnormality of the vasculature	4693	NDP	ORPHA:891
HP:0002597	Abnormality of the vasculature	1499	CTNNB1	ORPHA:891
HP:0002597	Abnormality of the vasculature	23554	TSPAN12	ORPHA:891
HP:0002597	Abnormality of the vasculature	4041	LRP5	ORPHA:891
HP:0002597	Abnormality of the vasculature	79797	ZNF408	ORPHA:891
HP:0002597	Abnormality of the vasculature	8322	FZD4	ORPHA:891
HP:0002597	Abnormality of the vasculature	2615	LRRC32	OMIM:619074
HP:0002597	Abnormality of the vasculature	1906	EDN1	ORPHA:137888
HP:0002597	Abnormality of the vasculature	5332	PLCB4	ORPHA:137888
HP:0002597	Abnormality of the vasculature	2773	GNAI3	ORPHA:137888
HP:0002597	Abnormality of the vasculature	7046	TGFBR1	OMIM:609192
HP:0002597	Abnormality of the vasculature	7048	TGFBR2	OMIM:610168
HP:0002597	Abnormality of the vasculature	2157	F8	ORPHA:169805
HP:0002597	Abnormality of the vasculature	4774	NFIA	ORPHA:401986
HP:0002597	Abnormality of the vasculature	55788	LMBRD1	ORPHA:79284
HP:0002597	Abnormality of the vasculature	284058	KANSL1	ORPHA:363965
HP:0002597	Abnormality of the vasculature	284058	KANSL1	ORPHA:363958
HP:0002597	Abnormality of the vasculature	6678	SPARC	OMIM:616507
HP:0002597	Abnormality of the vasculature	165918	RNF168	ORPHA:420741
HP:0002597	Abnormality of the vasculature	100131801	PET100	OMIM:619055
HP:0002597	Abnormality of the vasculature	92935	MARS2	OMIM:616430
HP:0002597	Abnormality of the vasculature	208	AKT2	ORPHA:293964
HP:0002597	Abnormality of the vasculature	3559	IL2RA	OMIM:606367
HP:0002597	Abnormality of the vasculature	6261	RYR1	ORPHA:466650
HP:0002597	Abnormality of the vasculature	213	ALB	ORPHA:86816
HP:0002597	Abnormality of the vasculature	54941	RNF125	OMIM:616260
HP:0002597	Abnormality of the vasculature	27235	COQ2	ORPHA:227510
HP:0002597	Abnormality of the vasculature	27235	COQ2	ORPHA:98933
HP:0002597	Abnormality of the vasculature	6696	SPP1	ORPHA:93552
HP:0002597	Abnormality of the vasculature	3654	IRAK1	ORPHA:93552
HP:0002597	Abnormality of the vasculature	51284	TLR7	OMIM:301080
HP:0002597	Abnormality of the vasculature	84153	RNASEH2C	ORPHA:51
HP:0002597	Abnormality of the vasculature	25939	SAMHD1	ORPHA:51
HP:0002597	Abnormality of the vasculature	79621	RNASEH2B	ORPHA:51
HP:0002597	Abnormality of the vasculature	100147744	RNU7-1	ORPHA:51
HP:0002597	Abnormality of the vasculature	134353	LSM11	ORPHA:51
HP:0002597	Abnormality of the vasculature	84665	MYPN	ORPHA:75249
HP:0002597	Abnormality of the vasculature	2318	FLNC	ORPHA:75249
HP:0002597	Abnormality of the vasculature	7139	TNNT2	ORPHA:75249
HP:0002597	Abnormality of the vasculature	7137	TNNI3	ORPHA:75249
HP:0002597	Abnormality of the vasculature	10112	KIF20A	ORPHA:75249
HP:0002597	Abnormality of the vasculature	6521	SLC4A1	ORPHA:3202
HP:0002597	Abnormality of the vasculature	9780	PIEZO1	ORPHA:3202
HP:0002597	Abnormality of the vasculature	3783	KCNN4	ORPHA:3202
HP:0002597	Abnormality of the vasculature	6472	SHMT2	OMIM:619121
HP:0002597	Abnormality of the vasculature	4137	MAPT	ORPHA:240071
HP:0002597	Abnormality of the vasculature	114548	NLRP3	OMIM:191900
HP:0002597	Abnormality of the vasculature	114548	NLRP3	OMIM:148200
HP:0002597	Abnormality of the vasculature	7132	TNFRSF1A	OMIM:142680
HP:0002597	Abnormality of the vasculature	164	AP1G1	OMIM:619548
HP:0002597	Abnormality of the vasculature	9894	TELO2	ORPHA:488642
HP:0002597	Abnormality of the vasculature	1656	DDX6	OMIM:618653
HP:0002597	Abnormality of the vasculature	90417	KNSTRN	ORPHA:221139
HP:0002597	Abnormality of the vasculature	3852	KRT5	ORPHA:158681
HP:0002597	Abnormality of the vasculature	3852	KRT5	OMIM:609352
HP:0002597	Abnormality of the vasculature	2642	GCGR	ORPHA:438274
HP:0002597	Abnormality of the vasculature	56006	SMG9	OMIM:619995
HP:0002597	Abnormality of the vasculature	58499	ZNF462	OMIM:618619
HP:0002597	Abnormality of the vasculature	84196	USP48	ORPHA:96253
HP:0002597	Abnormality of the vasculature	7157	TP53	ORPHA:96253
HP:0002597	Abnormality of the vasculature	9101	USP8	ORPHA:96253
HP:0002597	Abnormality of the vasculature	9101	USP8	OMIM:219090
HP:0002597	Abnormality of the vasculature	64072	CDH23	ORPHA:96253
HP:0002597	Abnormality of the vasculature	2908	NR3C1	ORPHA:96253
HP:0002597	Abnormality of the vasculature	546	ATRX	ORPHA:96253
HP:0002597	Abnormality of the vasculature	2811	GP1BA	OMIM:153670
HP:0002597	Abnormality of the vasculature	2811	GP1BA	ORPHA:853
HP:0002597	Abnormality of the vasculature	3458	IFNG	ORPHA:88
HP:0002597	Abnormality of the vasculature	5551	PRF1	ORPHA:88
HP:0002597	Abnormality of the vasculature	5551	PRF1	ORPHA:540
HP:0002597	Abnormality of the vasculature	51119	SBDS	ORPHA:88
HP:0002597	Abnormality of the vasculature	51206	GP6	OMIM:614201
HP:0002597	Abnormality of the vasculature	6915	TBXA2R	OMIM:614009
HP:0002597	Abnormality of the vasculature	3257	HPS1	OMIM:203300
HP:0002597	Abnormality of the vasculature	3690	ITGB3	ORPHA:849
HP:0002597	Abnormality of the vasculature	3690	ITGB3	ORPHA:853
HP:0002597	Abnormality of the vasculature	811	CALR	ORPHA:824
HP:0002597	Abnormality of the vasculature	64805	P2RY12	OMIM:609821
HP:0002597	Abnormality of the vasculature	8676	STX11	ORPHA:540
HP:0002597	Abnormality of the vasculature	201294	UNC13D	ORPHA:540
HP:0002597	Abnormality of the vasculature	6813	STXBP2	ORPHA:540
HP:0002597	Abnormality of the vasculature	5371	PML	ORPHA:520
HP:0002597	Abnormality of the vasculature	5914	RARA	ORPHA:520
HP:0002597	Abnormality of the vasculature	81608	FIP1L1	ORPHA:520
HP:0002597	Abnormality of the vasculature	64859	NABP1	ORPHA:520
HP:0002597	Abnormality of the vasculature	6777	STAT5B	ORPHA:520
HP:0002597	Abnormality of the vasculature	4926	NUMA1	ORPHA:520
HP:0002597	Abnormality of the vasculature	7704	ZBTB16	ORPHA:520
HP:0002597	Abnormality of the vasculature	79718	TBL1XR1	ORPHA:520
HP:0002597	Abnormality of the vasculature	79803	HPS6	OMIM:614075
HP:0002597	Abnormality of the vasculature	55340	GIMAP5	OMIM:619463
HP:0002597	Abnormality of the vasculature	9049	AIP	OMIM:219090
HP:0002597	Abnormality of the vasculature	3673	ITGA2	ORPHA:853
HP:0002597	Abnormality of the vasculature	135228	CD109	ORPHA:853
HP:0002597	Abnormality of the vasculature	8328	GFI1B	OMIM:187900
HP:0002597	Abnormality of the vasculature	2131	EXT1	ORPHA:321
HP:0002597	Abnormality of the vasculature	2132	EXT2	ORPHA:321
HP:0002597	Abnormality of the vasculature	55033	FKBP14	OMIM:614557
HP:0002597	Abnormality of the vasculature	7528	YY1	OMIM:617557
HP:0002597	Abnormality of the vasculature	168507	PKD1L1	OMIM:617205
HP:0002597	Abnormality of the vasculature	8854	ALDH1A2	OMIM:620025
HP:0002597	Abnormality of the vasculature	2324	FLT4	OMIM:618780
HP:0002597	Abnormality of the vasculature	4351	MPI	OMIM:602579
HP:0002597	Abnormality of the vasculature	3265	HRAS	OMIM:218040
HP:0002597	Abnormality of the vasculature	26040	SETBP1	OMIM:269150
HP:0002597	Abnormality of the vasculature	79709	COLGALT1	OMIM:618360
HP:0002597	Abnormality of the vasculature	6452	SH3BP2	OMIM:118400
HP:0002597	Abnormality of the vasculature	6439	SFTPB	OMIM:265120
HP:0002597	Abnormality of the vasculature	6868	ADAM17	OMIM:614328
HP:0002597	Abnormality of the vasculature	55630	SLC39A4	OMIM:201100
HP:0002597	Abnormality of the vasculature	6720	SREBF1	OMIM:619016
HP:0002597	Abnormality of the vasculature	57152	SLURP1	OMIM:248300
HP:0002597	Abnormality of the vasculature	51360	MBTPS2	OMIM:308205
HP:0002597	Abnormality of the vasculature	10128	LRPPRC	OMIM:220111
HP:0002597	Abnormality of the vasculature	340061	STING1	OMIM:615934
HP:0002597	Abnormality of the vasculature	2982	GUCY1A1	OMIM:615750
HP:0002597	Abnormality of the vasculature	490	ATP2B1	OMIM:619910
HP:0002597	Abnormality of the vasculature	3718	JAK3	OMIM:600802
HP:0002597	Abnormality of the vasculature	545	ATR	OMIM:614564
HP:0002597	Abnormality of the vasculature	51816	ADA2	OMIM:182410
HP:0002597	Abnormality of the vasculature	5426	POLE	OMIM:618336
HP:0002597	Abnormality of the vasculature	5426	POLE	OMIM:615139
HP:0002597	Abnormality of the vasculature	9620	CELSR1	OMIM:619319
HP:0002597	Abnormality of the vasculature	3988	LIPA	OMIM:278000
HP:0002597	Abnormality of the vasculature	1725	DHPS	OMIM:618480
HP:0002597	Abnormality of the vasculature	5429	POLH	OMIM:278750
HP:0002597	Abnormality of the vasculature	89970	RSPRY1	ORPHA:457395
HP:0002597	Abnormality of the vasculature	3423	IDS	ORPHA:217085
HP:0002597	Abnormality of the vasculature	3423	IDS	ORPHA:217093
HP:0002597	Abnormality of the vasculature	51341	ZBTB7A	OMIM:619769
HP:0002597	Abnormality of the vasculature	23299	BICD2	OMIM:618291
HP:0002597	Abnormality of the vasculature	2639	GCDH	ORPHA:25
HP:0002597	Abnormality of the vasculature	3674	ITGA2B	OMIM:273800
HP:0002597	Abnormality of the vasculature	1785	DNM2	OMIM:615368
HP:0002597	Abnormality of the vasculature	2074	ERCC6	ORPHA:90324
HP:0002597	Abnormality of the vasculature	3703	STT3A	OMIM:619714
HP:0002597	Abnormality of the vasculature	5054	SERPINE1	ORPHA:465
HP:0002597	Abnormality of the vasculature	2243	FGA	OMIM:202400
HP:0002597	Abnormality of the vasculature	2244	FGB	OMIM:202400
HP:0002597	Abnormality of the vasculature	2266	FGG	OMIM:202400
HP:0002597	Abnormality of the vasculature	4221	MEN1	ORPHA:652
HP:0002597	Abnormality of the vasculature	1027	CDKN1B	ORPHA:652
HP:0002597	Abnormality of the vasculature	1027	CDKN1B	ORPHA:276152
HP:0002597	Abnormality of the vasculature	1026	CDKN1A	ORPHA:652
HP:0002597	Abnormality of the vasculature	1031	CDKN2C	ORPHA:652
HP:0002597	Abnormality of the vasculature	4854	NOTCH3	ORPHA:136
HP:0002597	Abnormality of the vasculature	5167	ENPP1	OMIM:208000
HP:0002597	Abnormality of the vasculature	5167	ENPP1	ORPHA:758
HP:0002597	Abnormality of the vasculature	5116	PCNT	ORPHA:2637
HP:0002597	Abnormality of the vasculature	3593	IL12B	ORPHA:3287
HP:0002597	Abnormality of the vasculature	6945	MLX	ORPHA:3287
HP:0002597	Abnormality of the vasculature	2767	GNA11	ORPHA:1556
HP:0002597	Abnormality of the vasculature	151188	ARL6IP6	ORPHA:1556
HP:0002597	Abnormality of the vasculature	5654	HTRA1	OMIM:600142
HP:0002597	Abnormality of the vasculature	165	AEBP1	ORPHA:536532
HP:0002597	Abnormality of the vasculature	165	AEBP1	OMIM:618000
HP:0002597	Abnormality of the vasculature	10483	SEC23B	ORPHA:201
HP:0002597	Abnormality of the vasculature	205717	USF3	ORPHA:201
HP:0002597	Abnormality of the vasculature	100144748	KLLN	ORPHA:201
HP:0002597	Abnormality of the vasculature	64840	PORCN	ORPHA:2092
HP:0002597	Abnormality of the vasculature	55699	IARS2	OMIM:616007
HP:0002597	Abnormality of the vasculature	118429	ANTXR2	ORPHA:2176
HP:0002597	Abnormality of the vasculature	7518	XRCC4	ORPHA:99812
HP:0002597	Abnormality of the vasculature	3981	LIG4	ORPHA:99812
HP:0002597	Abnormality of the vasculature	1540	CYLD	ORPHA:867
HP:0002597	Abnormality of the vasculature	1540	CYLD	ORPHA:211
HP:0002597	Abnormality of the vasculature	11322	TMC6	ORPHA:302
HP:0002597	Abnormality of the vasculature	3574	IL7	ORPHA:302
HP:0002597	Abnormality of the vasculature	147138	TMC8	ORPHA:302
HP:0002597	Abnormality of the vasculature	10519	CIB1	ORPHA:302
HP:0002597	Abnormality of the vasculature	472	ATM	ORPHA:100
HP:0002597	Abnormality of the vasculature	63916	ELMO2	ORPHA:3019
HP:0002597	Abnormality of the vasculature	55612	FERMT1	OMIM:173650
HP:0002597	Abnormality of the vasculature	3930	LBR	ORPHA:779
HP:0002597	Abnormality of the vasculature	4668	NAGA	ORPHA:79280
HP:0002597	Abnormality of the vasculature	4668	NAGA	ORPHA:79279
HP:0002597	Abnormality of the vasculature	2717	GLA	ORPHA:324
HP:0002597	Abnormality of the vasculature	5424	POLD1	OMIM:615381
HP:0002597	Abnormality of the vasculature	26277	TINF2	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55651	NHP2	ORPHA:1775
HP:0002597	Abnormality of the vasculature	79650	USB1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55135	WRAP53	ORPHA:1775
HP:0002597	Abnormality of the vasculature	51750	RTEL1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	4869	NPM1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	7012	TERC	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55505	NOP10	ORPHA:1775
HP:0002597	Abnormality of the vasculature	5073	PARN	ORPHA:1775
HP:0002597	Abnormality of the vasculature	1736	DKC1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	7298	TYMS	ORPHA:1775
HP:0002597	Abnormality of the vasculature	2068	ERCC2	ORPHA:910
HP:0002597	Abnormality of the vasculature	7507	XPA	ORPHA:910
HP:0002597	Abnormality of the vasculature	2071	ERCC3	ORPHA:910
HP:0002597	Abnormality of the vasculature	7508	XPC	ORPHA:910
HP:0002597	Abnormality of the vasculature	1643	DDB2	ORPHA:910
HP:0002597	Abnormality of the vasculature	2073	ERCC5	ORPHA:910
HP:0002597	Abnormality of the vasculature	9820	CUL7	ORPHA:2616
HP:0002597	Abnormality of the vasculature	23363	OBSL1	ORPHA:2616
HP:0002597	Abnormality of the vasculature	83987	CCDC8	ORPHA:2616
HP:0002597	Abnormality of the vasculature	56922	MCCC1	ORPHA:6
HP:0002597	Abnormality of the vasculature	64087	MCCC2	ORPHA:6
HP:0002597	Abnormality of the vasculature	5340	PLG	OMIM:619360
HP:0002597	Abnormality of the vasculature	284	ANGPT1	OMIM:619361
HP:0002597	Abnormality of the vasculature	26509	MYOF	OMIM:619366
HP:0002597	Abnormality of the vasculature	64711	HS3ST6	OMIM:619367
HP:0002597	Abnormality of the vasculature	3827	KNG1	OMIM:619363
HP:0002597	Abnormality of the vasculature	3115	HLA-DPB1	ORPHA:133
HP:0002597	Abnormality of the vasculature	348	APOE	ORPHA:158029
HP:0002597	Abnormality of the vasculature	330	BIRC3	ORPHA:52417
HP:0002597	Abnormality of the vasculature	10892	MALT1	ORPHA:52417
HP:0002597	Abnormality of the vasculature	3492	IGH	ORPHA:52417
HP:0002597	Abnormality of the vasculature	3492	IGH	ORPHA:545
HP:0002597	Abnormality of the vasculature	8915	BCL10	ORPHA:52417
HP:0002597	Abnormality of the vasculature	84061	MAGT1	OMIM:300853
HP:0002597	Abnormality of the vasculature	5580	PRKCD	OMIM:615559
HP:0002597	Abnormality of the vasculature	596	BCL2	ORPHA:545
HP:0002597	Abnormality of the vasculature	604	BCL6	ORPHA:545
HP:0002597	Abnormality of the vasculature	2130	EWSR1	ORPHA:83469
HP:0002597	Abnormality of the vasculature	10125	RASGRP1	OMIM:618534
HP:0002597	Abnormality of the vasculature	5294	PIK3CG	OMIM:619802
HP:0002597	Abnormality of the vasculature	3662	IRF4	ORPHA:3452
HP:0002597	Abnormality of the vasculature	1536	CYBB	ORPHA:379
HP:0002597	Abnormality of the vasculature	4688	NCF2	ORPHA:379
HP:0002597	Abnormality of the vasculature	1535	CYBA	ORPHA:379
HP:0002597	Abnormality of the vasculature	4689	NCF4	ORPHA:379
HP:0002597	Abnormality of the vasculature	79415	CYBC1	ORPHA:379
HP:0002597	Abnormality of the vasculature	2263	FGFR2	ORPHA:1555
HP:0002597	Abnormality of the vasculature	7010	TEK	ORPHA:1059
HP:0002597	Abnormality of the vasculature	5290	PIK3CA	ORPHA:276280
HP:0002597	Abnormality of the vasculature	998	CDC42	ORPHA:487796
HP:0002597	Abnormality of the vasculature	54345	SOX18	ORPHA:69735
HP:0002597	Abnormality of the vasculature	2050	EPHB4	ORPHA:137667
HP:0002597	Abnormality of the vasculature	8314	BAP1	ORPHA:618
HP:0002597	Abnormality of the vasculature	1019	CDK4	ORPHA:618
HP:0002597	Abnormality of the vasculature	4255	MGMT	ORPHA:618
HP:0002597	Abnormality of the vasculature	54386	TERF2IP	ORPHA:618
HP:0002597	Abnormality of the vasculature	4157	MC1R	ORPHA:618
HP:0002597	Abnormality of the vasculature	65057	ACD	ORPHA:618
HP:0002597	Abnormality of the vasculature	1029	CDKN2A	ORPHA:618
HP:0002597	Abnormality of the vasculature	7015	TERT	ORPHA:618
HP:0002597	Abnormality of the vasculature	25913	POT1	ORPHA:618
HP:0002597	Abnormality of the vasculature	1030	CDKN2B	ORPHA:618
HP:0002597	Abnormality of the vasculature	7248	TSC1	ORPHA:538
HP:0002597	Abnormality of the vasculature	7249	TSC2	ORPHA:538
HP:0002597	Abnormality of the vasculature	5605	MAP2K2	ORPHA:638
HP:0002597	Abnormality of the vasculature	9508	ADAMTS3	ORPHA:2136
HP:0002597	Abnormality of the vasculature	147372	CCBE1	ORPHA:2136
HP:0002597	Abnormality of the vasculature	79633	FAT4	ORPHA:2136
HP:0002597	Abnormality of the vasculature	80781	COL18A1	ORPHA:1571
HP:0002597	Abnormality of the vasculature	5062	PAK2	ORPHA:1571
HP:0002597	Abnormality of the vasculature	5745	PTH1R	ORPHA:296
HP:0002597	Abnormality of the vasculature	3418	IDH2	ORPHA:296
HP:0002597	Abnormality of the vasculature	3417	IDH1	ORPHA:296
HP:0002597	Abnormality of the vasculature	3417	IDH1	ORPHA:99646
HP:0002597	Abnormality of the vasculature	695	BTK	ORPHA:47
HP:0002597	Abnormality of the vasculature	3425	IDUA	ORPHA:93473
HP:0002597	Abnormality of the vasculature	3425	IDUA	ORPHA:93476
HP:0002597	Abnormality of the vasculature	5921	RASA1	ORPHA:90307
HP:0002597	Abnormality of the vasculature	146206	CARMIL2	OMIM:618131
HP:0002597	Abnormality of the vasculature	6651	SON	ORPHA:500150
HP:0002597	Abnormality of the vasculature	2304	FOXE1	ORPHA:319487
HP:0002597	Abnormality of the vasculature	9562	MINPP1	ORPHA:319487
HP:0002599	Head titubation	16	AARS1	OMIM:619691
HP:0002599	Head titubation	57165	GJC2	OMIM:608804
HP:0002599	Head titubation	2521	FUS	ORPHA:300605
HP:0002599	Head titubation	80208	SPG11	ORPHA:300605
HP:0002599	Head titubation	10280	SIGMAR1	ORPHA:300605
HP:0002599	Head titubation	10558	SPTLC1	ORPHA:300605
HP:0002599	Head titubation	57679	ALS2	ORPHA:300605
HP:0002599	Head titubation	57679	ALS2	OMIM:205100
HP:0002599	Head titubation	84504	NKX6-2	OMIM:617560
HP:0002599	Head titubation	84504	NKX6-2	ORPHA:527497
HP:0002599	Head titubation	5354	PLP1	OMIM:312080
HP:0002599	Head titubation	26275	HIBCH	ORPHA:88639
HP:0002599	Head titubation	26275	HIBCH	OMIM:250620
HP:0002599	Head titubation	7345	UCHL1	OMIM:615491
HP:0002599	Head titubation	6711	SPTBN1	OMIM:619475
HP:0002599	Head titubation	3329	HSPD1	OMIM:612233
HP:0002599	Head titubation	267010	RNU12	OMIM:620208
HP:0002599	Head titubation	23230	VPS13A	ORPHA:2388
HP:0002599	Head titubation	9725	TMEM63A	OMIM:618688
HP:0002599	Head titubation	5610	EIF2AK2	OMIM:618877
HP:0002599	Head titubation	10749	KIF1C	OMIM:611302
HP:0002599	Head titubation	284217	LAMA1	ORPHA:370022
HP:0002599	Head titubation	4001	LMNB1	ORPHA:99027
HP:0002599	Head titubation	5297	PI4KA	OMIM:619708
HP:0009755	Ankyloblepharon	8626	TP63	OMIM:106260
HP:0009755	Ankyloblepharon	8626	TP63	ORPHA:1072
HP:0009755	Ankyloblepharon	54101	RIPK4	OMIM:263650
HP:0009755	Ankyloblepharon	54101	RIPK4	ORPHA:1401
HP:0009755	Ankyloblepharon	54101	RIPK4	ORPHA:1234
HP:0009755	Ankyloblepharon	54101	RIPK4	OMIM:214350
HP:0009755	Ankyloblepharon	3664	IRF6	OMIM:119500
HP:0009755	Ankyloblepharon	3664	IRF6	ORPHA:1300
HP:0009755	Ankyloblepharon	22858	CILK1	OMIM:612651
HP:0009755	Ankyloblepharon	341640	FREM2	OMIM:123570
HP:0009755	Ankyloblepharon	30062	RAX	OMIM:611038
HP:0009755	Ankyloblepharon	1147	CHUK	OMIM:619339
HP:0009755	Ankyloblepharon	2068	ERCC2	ORPHA:910
HP:0009755	Ankyloblepharon	7507	XPA	ORPHA:910
HP:0009755	Ankyloblepharon	2071	ERCC3	ORPHA:910
HP:0009755	Ankyloblepharon	7508	XPC	ORPHA:910
HP:0009755	Ankyloblepharon	1643	DDB2	ORPHA:910
HP:0009755	Ankyloblepharon	2072	ERCC4	ORPHA:910
HP:0009755	Ankyloblepharon	2073	ERCC5	ORPHA:910
HP:0009755	Ankyloblepharon	8260	NAA10	ORPHA:568
HP:0009755	Ankyloblepharon	54880	BCOR	ORPHA:568
HP:0009757	Intercrural pterygium	1146	CHRNG	OMIM:265000
HP:0009757	Intercrural pterygium	3664	IRF6	OMIM:119500
HP:0009756	Popliteal pterygium	1146	CHRNG	OMIM:265000
HP:0009756	Popliteal pterygium	1146	CHRNG	ORPHA:2990
HP:0009756	Popliteal pterygium	4621	MYH3	OMIM:178110
HP:0009756	Popliteal pterygium	4621	MYH3	ORPHA:2990
HP:0009756	Popliteal pterygium	5307	PITX1	OMIM:119800
HP:0009756	Popliteal pterygium	54101	RIPK4	OMIM:263650
HP:0009756	Popliteal pterygium	54101	RIPK4	ORPHA:1234
HP:0009756	Popliteal pterygium	3664	IRF6	OMIM:119500
HP:0009756	Popliteal pterygium	3664	IRF6	ORPHA:1300
HP:0009756	Popliteal pterygium	10082	GPC6	OMIM:258315
HP:0009756	Popliteal pterygium	727857	BHLHA9	ORPHA:3329
HP:0009756	Popliteal pterygium	1147	CHUK	OMIM:619339
HP:0009759	Neck pterygia	1146	CHRNG	OMIM:265000
HP:0009759	Neck pterygia	10265	IRX5	OMIM:611174
HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	3664	IRF6	OMIM:119500
HP:0009760	Antecubital pterygium	4010	LMX1B	OMIM:161200
HP:0009760	Antecubital pterygium	4010	LMX1B	ORPHA:2614
HP:0009760	Antecubital pterygium	1146	CHRNG	OMIM:265000
HP:0009760	Antecubital pterygium	1146	CHRNG	ORPHA:2990
HP:0009760	Antecubital pterygium	4621	MYH3	OMIM:178110
HP:0009760	Antecubital pterygium	4621	MYH3	OMIM:618469
HP:0009760	Antecubital pterygium	4621	MYH3	ORPHA:2990
HP:0009760	Antecubital pterygium	3481	IGF2	OMIM:616489
HP:0009760	Antecubital pterygium	9928	KIF14	OMIM:616258
HP:0009760	Antecubital pterygium	1147	CHUK	OMIM:619339
HP:0009760	Antecubital pterygium	57211	ADGRG6	OMIM:616503
HP:0009761	Anterior clefting of vertebral bodies	1146	CHRNG	OMIM:265000
HP:0009762	Facial wrinkling	9968	MED12	ORPHA:93932
HP:0009762	Facial wrinkling	9968	MED12	OMIM:305450
HP:0009762	Facial wrinkling	857	CAV1	OMIM:606721
HP:0009762	Facial wrinkling	8260	NAA10	OMIM:300855
HP:0009763	Limb pain	1277	COL1A1	ORPHA:287
HP:0009763	Limb pain	1289	COL5A1	ORPHA:287
HP:0009763	Limb pain	1290	COL5A2	ORPHA:287
HP:0009763	Limb pain	7428	VHL	ORPHA:892
HP:0009763	Limb pain	595	CCND1	ORPHA:892
HP:0009763	Limb pain	6399	TRAPPC2	ORPHA:93284
HP:0009763	Limb pain	11277	TREX1	OMIM:192315
HP:0009763	Limb pain	2335	FN1	ORPHA:93315
HP:0009763	Limb pain	1280	COL2A1	ORPHA:93315
HP:0009763	Limb pain	1371	CPOX	ORPHA:79273
HP:0009763	Limb pain	3145	HMBS	ORPHA:79276
HP:0009763	Limb pain	10558	SPTLC1	ORPHA:36386
HP:0009763	Limb pain	25923	ATL3	ORPHA:36386
HP:0009763	Limb pain	9517	SPTLC2	ORPHA:36386
HP:0009763	Limb pain	51062	ATL1	ORPHA:36386
HP:0009763	Limb pain	2313	FLI1	ORPHA:370348
HP:0009763	Limb pain	5654	HTRA1	ORPHA:199354
HP:0009763	Limb pain	8575	PRKRA	ORPHA:210571
HP:0009763	Limb pain	8575	PRKRA	OMIM:612067
HP:0009763	Limb pain	7040	TGFB1	OMIM:131300
HP:0009763	Limb pain	4311	MME	OMIM:617018
HP:0009763	Limb pain	4508	MT-ATP6	ORPHA:320360
HP:0009763	Limb pain	5921	RASA1	ORPHA:90307
HP:0009763	Limb pain	4566	MT-TK	ORPHA:1349
HP:0009763	Limb pain	84188	FAR1	ORPHA:447753
HP:0009763	Limb pain	5832	ALDH18A1	ORPHA:447753
HP:0009763	Limb pain	6687	SPG7	ORPHA:99013
HP:0009763	Limb pain	10613	ERLIN1	ORPHA:401785
HP:0009763	Limb pain	4669	NAGLU	OMIM:616491
HP:0009763	Limb pain	341208	HEPHL1	OMIM:261990
HP:0009763	Limb pain	91662	NLRP12	OMIM:611762
HP:0009763	Limb pain	3868	KRT16	ORPHA:2309
HP:0009763	Limb pain	3872	KRT17	ORPHA:2309
HP:0009763	Limb pain	3853	KRT6A	ORPHA:2309
HP:0009763	Limb pain	3854	KRT6B	ORPHA:2309
HP:0009763	Limb pain	54	ACP5	ORPHA:1855
HP:0009763	Limb pain	9927	MFN2	ORPHA:99947
HP:0009763	Limb pain	3852	KRT5	ORPHA:79400
HP:0009763	Limb pain	3861	KRT14	ORPHA:79400
HP:0009763	Limb pain	10804	GJB6	ORPHA:477
HP:0009763	Limb pain	2706	GJB2	ORPHA:477
HP:0009763	Limb pain	6578	SLCO2A1	OMIM:614441
HP:0009763	Limb pain	6578	SLCO2A1	OMIM:167100
HP:0009763	Limb pain	4010	LMX1B	ORPHA:2614
HP:0009763	Limb pain	4796	TONSL	ORPHA:93357
HP:0009763	Limb pain	1298	COL9A2	OMIM:600204
HP:0009763	Limb pain	1298	COL9A2	ORPHA:166002
HP:0009763	Limb pain	26580	BSCL2	ORPHA:100998
HP:0009763	Limb pain	1299	COL9A3	OMIM:600969
HP:0009763	Limb pain	1299	COL9A3	ORPHA:166002
HP:0009763	Limb pain	1297	COL9A1	OMIM:614135
HP:0009763	Limb pain	1297	COL9A1	ORPHA:166002
HP:0009763	Limb pain	4322	MMP13	OMIM:250400
HP:0009763	Limb pain	567	B2M	ORPHA:314652
HP:0009763	Limb pain	23592	LEMD3	ORPHA:166119
HP:0009763	Limb pain	1311	COMP	ORPHA:93308
HP:0009763	Limb pain	1311	COMP	OMIM:132400
HP:0009763	Limb pain	9935	MAFB	OMIM:166300
HP:0009763	Limb pain	4148	MATN3	ORPHA:93311
HP:0009763	Limb pain	3373	HYAL1	OMIM:601492
HP:0009763	Limb pain	3425	IDUA	OMIM:607015
HP:0009909	Uplifted earlobe	9839	ZEB2	ORPHA:261537
HP:0009909	Uplifted earlobe	9839	ZEB2	ORPHA:261552
HP:0009909	Uplifted earlobe	9839	ZEB2	OMIM:235730
HP:0009909	Uplifted earlobe	699	BUB1	OMIM:620183
HP:0009909	Uplifted earlobe	9488	PIGB	OMIM:618580
HP:0009909	Uplifted earlobe	11141	IL1RAPL1	OMIM:300143
HP:0009909	Uplifted earlobe	79813	EHMT1	ORPHA:261652
HP:0009909	Uplifted earlobe	58508	KMT2C	ORPHA:261652
HP:0009909	Uplifted earlobe	652	BMP4	OMIM:607932
HP:0009909	Uplifted earlobe	9578	CDC42BPB	OMIM:619841
HP:0009909	Uplifted earlobe	2892	GRIA3	ORPHA:364028
HP:0009909	Uplifted earlobe	81887	LAS1L	ORPHA:3459
HP:0009909	Uplifted earlobe	55869	HDAC8	ORPHA:3459
HP:0009909	Uplifted earlobe	27245	AHDC1	ORPHA:412069
HP:0009909	Uplifted earlobe	27245	AHDC1	OMIM:615829
HP:0009909	Uplifted earlobe	9487	PIGL	OMIM:280000
HP:0009909	Uplifted earlobe	81857	MED25	OMIM:616449
HP:0009909	Uplifted earlobe	7025	NR2F1	OMIM:615722
HP:0009909	Uplifted earlobe	7291	TWIST1	OMIM:617746
HP:0009909	Uplifted earlobe	10982	MAPRE2	OMIM:616734
HP:0009909	Uplifted earlobe	6602	SMARCD1	OMIM:618779
HP:0009909	Uplifted earlobe	9091	PIGQ	OMIM:618548
HP:0009909	Uplifted earlobe	25942	SIN3A	OMIM:613406
HP:0009909	Uplifted earlobe	79718	TBL1XR1	ORPHA:487825
HP:0009765	Low hanging columella	1182	CLCN3	OMIM:619512
HP:0009765	Low hanging columella	1387	CREBBP	OMIM:180849
HP:0009765	Low hanging columella	1387	CREBBP	ORPHA:353281
HP:0009765	Low hanging columella	1387	CREBBP	ORPHA:353277
HP:0009765	Low hanging columella	2033	EP300	OMIM:180849
HP:0009765	Low hanging columella	2033	EP300	ORPHA:353284
HP:0009765	Low hanging columella	2033	EP300	OMIM:613684
HP:0009765	Low hanging columella	10765	KDM5B	OMIM:618109
HP:0009765	Low hanging columella	7204	TRIO	OMIM:618825
HP:0009765	Low hanging columella	6650	CAPN15	OMIM:619318
HP:0009765	Low hanging columella	150468	CKAP2L	OMIM:272440
HP:0009765	Low hanging columella	8085	KMT2D	OMIM:620186
HP:0009765	Low hanging columella	9839	ZEB2	OMIM:235730
HP:0009765	Low hanging columella	9839	ZEB2	ORPHA:261537
HP:0009765	Low hanging columella	9839	ZEB2	ORPHA:261552
HP:0009765	Low hanging columella	10236	HNRNPR	OMIM:620073
HP:0009765	Low hanging columella	4247	MGAT2	ORPHA:79329
HP:0009765	Low hanging columella	4247	MGAT2	OMIM:212066
HP:0009765	Low hanging columella	9241	NOG	OMIM:184460
HP:0009765	Low hanging columella	79228	THOC6	ORPHA:363444
HP:0009765	Low hanging columella	79228	THOC6	OMIM:613680
HP:0009765	Low hanging columella	7707	ZNF148	OMIM:617260
HP:0009765	Low hanging columella	10847	SRCAP	OMIM:136140
HP:0009765	Low hanging columella	10847	SRCAP	ORPHA:2044
HP:0009765	Low hanging columella	9578	CDC42BPB	OMIM:619841
HP:0009765	Low hanging columella	29998	BICRA	OMIM:619325
HP:0009765	Low hanging columella	3021	H3-3B	OMIM:619721
HP:0009765	Low hanging columella	56098	PCDHGC4	OMIM:619880
HP:0009765	Low hanging columella	83737	ITCH	OMIM:613385
HP:0009765	Low hanging columella	51111	KMT5B	OMIM:617788
HP:0009765	Low hanging columella	3097	HIVEP2	OMIM:616977
HP:0009765	Low hanging columella	7291	TWIST1	OMIM:617746
HP:0009765	Low hanging columella	29072	SETD2	OMIM:620157
HP:0009765	Low hanging columella	29072	SETD2	OMIM:620155
HP:0009765	Low hanging columella	10978	CLP1	OMIM:615803
HP:0009765	Low hanging columella	57082	KNL1	OMIM:604321
HP:0009765	Low hanging columella	80267	EDEM3	OMIM:619493
HP:0009765	Low hanging columella	6904	TBCD	OMIM:617193
HP:0009765	Low hanging columella	10084	PQBP1	OMIM:309500
HP:0009765	Low hanging columella	9320	TRIP12	OMIM:617752
HP:0009765	Low hanging columella	5879	RAC1	OMIM:617751
HP:0009765	Low hanging columella	5879	RAC1	ORPHA:500159
HP:0009765	Low hanging columella	3899	AFF3	OMIM:619297
HP:0009765	Low hanging columella	51780	KDM3B	OMIM:618846
HP:0009765	Low hanging columella	7994	KAT6A	OMIM:616268
HP:0009765	Low hanging columella	7965	AIMP2	OMIM:618006
HP:0009765	Low hanging columella	1009	CDH11	OMIM:211380
HP:0009765	Low hanging columella	129285	PPP1R21	OMIM:619383
HP:0009765	Low hanging columella	6595	SMARCA2	OMIM:601358
HP:0009765	Low hanging columella	6261	RYR1	OMIM:619542
HP:0009765	Low hanging columella	3977	LIFR	OMIM:601559
HP:0009765	Low hanging columella	1822	ATN1	OMIM:618494
HP:0009765	Low hanging columella	3188	HNRNPH2	OMIM:300986
HP:0009765	Low hanging columella	2702	GJA5	OMIM:612474
HP:0009765	Low hanging columella	2703	GJA8	OMIM:612474
HP:0009765	Low hanging columella	57178	ZMIZ1	OMIM:618659
HP:0009765	Low hanging columella	6878	TAF6	OMIM:617126
HP:0009765	Low hanging columella	7319	UBE2A	ORPHA:163956
HP:0009765	Low hanging columella	6664	SOX11	OMIM:615866
HP:0009765	Low hanging columella	25886	POC1A	OMIM:614813
HP:0009765	Low hanging columella	2697	GJA1	OMIM:164200
HP:0009765	Low hanging columella	80816	ASXL3	ORPHA:352577
HP:0009765	Low hanging columella	1499	CTNNB1	ORPHA:404473
HP:0025401	Staring gaze	3064	HTT	ORPHA:399
HP:0025401	Staring gaze	6515	SLC2A3	ORPHA:399
HP:0025401	Staring gaze	60482	SLC5A7	ORPHA:98914
HP:0025401	Staring gaze	4649	MYO9A	ORPHA:98914
HP:0025401	Staring gaze	1305	COL13A1	ORPHA:98914
HP:0025401	Staring gaze	1103	CHAT	ORPHA:98914
HP:0025401	Staring gaze	6576	SLC25A1	ORPHA:98914
HP:0025401	Staring gaze	6843	VAMP1	ORPHA:98914
HP:0025401	Staring gaze	375790	AGRN	ORPHA:98914
HP:0025401	Staring gaze	127833	SYT2	ORPHA:98914
HP:0025401	Staring gaze	6572	SLC18A3	ORPHA:98914
HP:0025401	Staring gaze	6616	SNAP25	ORPHA:98914
HP:0025401	Staring gaze	57505	AARS2	OMIM:614096
HP:0025401	Staring gaze	340533	NEXMIF	OMIM:300912
HP:0025401	Staring gaze	55768	NGLY1	ORPHA:404454
HP:0025401	Staring gaze	8867	SYNJ1	OMIM:615530
HP:0025401	Staring gaze	343450	KCNT2	OMIM:617771
HP:0025401	Staring gaze	6310	ATXN1	ORPHA:98755
HP:0025401	Staring gaze	112476	PRRT2	ORPHA:98810
HP:0025401	Staring gaze	25953	PNKD	ORPHA:98810
HP:0025402	Square-wave jerks	23230	VPS13A	ORPHA:2388
HP:0025402	Square-wave jerks	23345	SYNE1	ORPHA:88644
HP:0025403	Stooped posture	54664	TMEM106B	OMIM:617964
HP:0025403	Stooped posture	10352	WARS2	OMIM:619738
HP:0025403	Stooped posture	4204	MECP2	ORPHA:3077
HP:0025403	Stooped posture	1303	COL12A1	OMIM:616471
HP:0025403	Stooped posture	7084	TK2	ORPHA:254886
HP:0025403	Stooped posture	5428	POLG	ORPHA:254886
HP:0025403	Stooped posture	6571	SLC18A2	OMIM:618049
HP:0025403	Stooped posture	8867	SYNJ1	OMIM:615530
HP:0025403	Stooped posture	23400	ATP13A2	ORPHA:306674
HP:0025404	Abnormal visual fixation	9488	PIGB	OMIM:618580
HP:0025404	Abnormal visual fixation	5903	RANBP2	ORPHA:88619
HP:0025404	Abnormal visual fixation	2629	GBA1	ORPHA:2072
HP:0025404	Abnormal visual fixation	8813	DPM1	ORPHA:79322
HP:0025404	Abnormal visual fixation	25930	PTPN23	OMIM:618890
HP:0025404	Abnormal visual fixation	55187	VPS13D	ORPHA:95434
HP:0025404	Abnormal visual fixation	27072	VPS41	ORPHA:95434
HP:0025404	Abnormal visual fixation	427	ASAH1	ORPHA:333
HP:0025404	Abnormal visual fixation	27183	VPS4A	OMIM:619273
HP:0025404	Abnormal visual fixation	10978	CLP1	ORPHA:411493
HP:0025404	Abnormal visual fixation	100131801	PET100	OMIM:619055
HP:0025404	Abnormal visual fixation	1182	CLCN3	OMIM:619517
HP:0025404	Abnormal visual fixation	55704	CCDC88A	OMIM:617507
HP:0025404	Abnormal visual fixation	11342	RNF13	ORPHA:544503
HP:0025404	Abnormal visual fixation	64116	SLC39A8	ORPHA:468699
HP:0025404	Abnormal visual fixation	443	ASPA	ORPHA:314911
HP:0025404	Abnormal visual fixation	271	AMPD2	OMIM:615809
HP:0025404	Abnormal visual fixation	3708	ITPR1	ORPHA:208513
HP:0025404	Abnormal visual fixation	22926	ATF6	ORPHA:49382
HP:0025404	Abnormal visual fixation	5146	PDE6C	ORPHA:49382
HP:0025404	Abnormal visual fixation	6103	RPGR	ORPHA:49382
HP:0025404	Abnormal visual fixation	5149	PDE6H	ORPHA:49382
HP:0025404	Abnormal visual fixation	2780	GNAT2	ORPHA:49382
HP:0025404	Abnormal visual fixation	1261	CNGA3	ORPHA:49382
HP:0025404	Abnormal visual fixation	54714	CNGB3	ORPHA:49382
HP:0025404	Abnormal visual fixation	8481	OFD1	OMIM:300424
HP:0025405	Visual fixation instability	427	ASAH1	ORPHA:333
HP:0025405	Visual fixation instability	27183	VPS4A	OMIM:619273
HP:0025405	Visual fixation instability	10978	CLP1	ORPHA:411493
HP:0025405	Visual fixation instability	100131801	PET100	OMIM:619055
HP:0025405	Visual fixation instability	1182	CLCN3	OMIM:619517
HP:0025405	Visual fixation instability	55704	CCDC88A	OMIM:617507
HP:0025405	Visual fixation instability	11342	RNF13	ORPHA:544503
HP:0025405	Visual fixation instability	64116	SLC39A8	ORPHA:468699
HP:0025405	Visual fixation instability	443	ASPA	ORPHA:314911
HP:0025405	Visual fixation instability	271	AMPD2	OMIM:615809
HP:0025405	Visual fixation instability	3708	ITPR1	ORPHA:208513
HP:0025406	Asthenia	212	ALAS2	OMIM:300751
HP:0025406	Asthenia	3930	LBR	OMIM:613471
HP:0025406	Asthenia	9692	PRORP	OMIM:619737
HP:0025406	Asthenia	1716	DGUOK	ORPHA:329314
HP:0025406	Asthenia	9842	PLEKHM1	OMIM:618107
HP:0025406	Asthenia	50814	NSDHL	ORPHA:251383
HP:0025406	Asthenia	5277	PIGA	ORPHA:447
HP:0025406	Asthenia	4125	MAN2B1	ORPHA:309282
HP:0025406	Asthenia	4125	MAN2B1	ORPHA:309288
HP:0025406	Asthenia	4522	MTHFD1	OMIM:617780
HP:0025406	Asthenia	866	SERPINA6	OMIM:611489
HP:0025407	Rectourethral fistula	267010	RNU12	OMIM:603116
HP:0025407	Rectourethral fistula	4281	MID1	OMIM:300000
HP:0025408	Abnormal spleen morphology	9663	LPIN2	OMIM:609628
HP:0025408	Abnormal spleen morphology	171023	ASXL1	ORPHA:98850
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:98850
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:824
HP:0025408	Abnormal spleen morphology	54790	TET2	OMIM:619126
HP:0025408	Abnormal spleen morphology	867	CBL	ORPHA:98850
HP:0025408	Abnormal spleen morphology	867	CBL	OMIM:613563
HP:0025408	Abnormal spleen morphology	861	RUNX1	ORPHA:98850
HP:0025408	Abnormal spleen morphology	6427	SRSF2	ORPHA:98850
HP:0025408	Abnormal spleen morphology	201294	UNC13D	OMIM:608898
HP:0025408	Abnormal spleen morphology	3071	NCKAP1L	OMIM:618982
HP:0025408	Abnormal spleen morphology	10466	COG5	ORPHA:263487
HP:0025408	Abnormal spleen morphology	2632	GBE1	OMIM:232500
HP:0025408	Abnormal spleen morphology	55823	VPS11	ORPHA:466934
HP:0025408	Abnormal spleen morphology	5880	RAC2	OMIM:618986
HP:0025408	Abnormal spleen morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0025408	Abnormal spleen morphology	811	CALR	ORPHA:824
HP:0025408	Abnormal spleen morphology	4352	MPL	ORPHA:824
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:824
HP:0025408	Abnormal spleen morphology	857	CAV1	OMIM:612526
HP:0025408	Abnormal spleen morphology	79796	ALG9	OMIM:608776
HP:0025408	Abnormal spleen morphology	4023	LPL	OMIM:238600
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:608013
HP:0025408	Abnormal spleen morphology	2629	GBA1	ORPHA:2072
HP:0025408	Abnormal spleen morphology	4758	NEU1	ORPHA:93399
HP:0025408	Abnormal spleen morphology	4758	NEU1	ORPHA:93400
HP:0025408	Abnormal spleen morphology	9420	CYP7B1	ORPHA:79302
HP:0025408	Abnormal spleen morphology	4125	MAN2B1	ORPHA:309282
HP:0025408	Abnormal spleen morphology	4125	MAN2B1	ORPHA:309288
HP:0025408	Abnormal spleen morphology	55315	SLC29A3	OMIM:602782
HP:0025408	Abnormal spleen morphology	55315	SLC29A3	ORPHA:168569
HP:0025408	Abnormal spleen morphology	6888	TALDO1	ORPHA:101028
HP:0025408	Abnormal spleen morphology	6888	TALDO1	OMIM:606003
HP:0025408	Abnormal spleen morphology	6775	STAT4	ORPHA:85408
HP:0025408	Abnormal spleen morphology	3560	IL2RB	ORPHA:85408
HP:0025408	Abnormal spleen morphology	79722	ANKRD55	ORPHA:85408
HP:0025408	Abnormal spleen morphology	26191	PTPN22	ORPHA:85408
HP:0025408	Abnormal spleen morphology	919	CD247	ORPHA:85408
HP:0025408	Abnormal spleen morphology	919	CD247	ORPHA:169160
HP:0025408	Abnormal spleen morphology	3559	IL2RA	ORPHA:85408
HP:0025408	Abnormal spleen morphology	3559	IL2RA	OMIM:606367
HP:0025408	Abnormal spleen morphology	5771	PTPN2	ORPHA:85408
HP:0025408	Abnormal spleen morphology	939	CD27	OMIM:615122
HP:0025408	Abnormal spleen morphology	3074	HEXB	OMIM:268800
HP:0025408	Abnormal spleen morphology	3074	HEXB	ORPHA:309155
HP:0025408	Abnormal spleen morphology	6813	STXBP2	OMIM:613101
HP:0025408	Abnormal spleen morphology	3459	IFNGR1	OMIM:209950
HP:0025408	Abnormal spleen morphology	3716	JAK1	OMIM:618999
HP:0025408	Abnormal spleen morphology	2122	MECOM	OMIM:616738
HP:0025408	Abnormal spleen morphology	2720	GLB1	ORPHA:79255
HP:0025408	Abnormal spleen morphology	5476	CTSA	OMIM:256540
HP:0025408	Abnormal spleen morphology	57231	SNX14	ORPHA:397709
HP:0025408	Abnormal spleen morphology	9382	COG1	ORPHA:263508
HP:0025408	Abnormal spleen morphology	79158	GNPTAB	ORPHA:576
HP:0025408	Abnormal spleen morphology	427	ASAH1	ORPHA:333
HP:0025408	Abnormal spleen morphology	427	ASAH1	ORPHA:2590
HP:0025408	Abnormal spleen morphology	25839	COG4	ORPHA:263501
HP:0025408	Abnormal spleen morphology	2212	FCGR2A	OMIM:219700
HP:0025408	Abnormal spleen morphology	7040	TGFB1	OMIM:219700
HP:0025408	Abnormal spleen morphology	1080	CFTR	OMIM:219700
HP:0025408	Abnormal spleen morphology	915	CD3D	ORPHA:169160
HP:0025408	Abnormal spleen morphology	916	CD3E	ORPHA:169160
HP:0025408	Abnormal spleen morphology	65082	VPS33A	ORPHA:505248
HP:0025408	Abnormal spleen morphology	2859	GPR35	ORPHA:171
HP:0025408	Abnormal spleen morphology	10507	SEMA4D	ORPHA:171
HP:0025408	Abnormal spleen morphology	4485	MST1	ORPHA:171
HP:0025408	Abnormal spleen morphology	6925	TCF4	ORPHA:171
HP:0025408	Abnormal spleen morphology	55240	STEAP3	ORPHA:300298
HP:0025408	Abnormal spleen morphology	51218	GLRX5	OMIM:616860
HP:0025408	Abnormal spleen morphology	1777	DNASE2	OMIM:619858
HP:0025408	Abnormal spleen morphology	3988	LIPA	OMIM:278000
HP:0025408	Abnormal spleen morphology	5896	RAG1	ORPHA:331206
HP:0025408	Abnormal spleen morphology	5897	RAG2	ORPHA:331206
HP:0025408	Abnormal spleen morphology	3423	IDS	ORPHA:217085
HP:0025408	Abnormal spleen morphology	3423	IDS	ORPHA:217093
HP:0025408	Abnormal spleen morphology	3423	IDS	OMIM:309900
HP:0025408	Abnormal spleen morphology	92579	G6PC3	OMIM:612541
HP:0025408	Abnormal spleen morphology	3376	IARS1	ORPHA:541423
HP:0025408	Abnormal spleen morphology	3431	SP110	ORPHA:79124
HP:0025408	Abnormal spleen morphology	8546	AP3B1	OMIM:608233
HP:0025408	Abnormal spleen morphology	1130	LYST	ORPHA:167
HP:0025408	Abnormal spleen morphology	26154	ABCA12	OMIM:601277
HP:0025408	Abnormal spleen morphology	7289	TULP3	OMIM:619902
HP:0025408	Abnormal spleen morphology	79415	CYBC1	OMIM:618935
HP:0025408	Abnormal spleen morphology	672	BRCA1	ORPHA:1333
HP:0025408	Abnormal spleen morphology	285282	RABL3	ORPHA:1333
HP:0025408	Abnormal spleen morphology	7157	TP53	ORPHA:1333
HP:0025408	Abnormal spleen morphology	675	BRCA2	ORPHA:1333
HP:0025408	Abnormal spleen morphology	3845	KRAS	ORPHA:1333
HP:0025408	Abnormal spleen morphology	1029	CDKN2A	ORPHA:1333
HP:0025408	Abnormal spleen morphology	79728	PALB2	ORPHA:1333
HP:0025408	Abnormal spleen morphology	4089	SMAD4	ORPHA:1333
HP:0025408	Abnormal spleen morphology	23022	PALLD	ORPHA:1333
HP:0025408	Abnormal spleen morphology	10125	RASGRP1	OMIM:618534
HP:0025408	Abnormal spleen morphology	2783	GNB2	OMIM:619503
HP:0025408	Abnormal spleen morphology	3425	IDUA	OMIM:607014
HP:0025408	Abnormal spleen morphology	2584	GALK1	ORPHA:79237
HP:0025408	Abnormal spleen morphology	9051	PSTPIP1	OMIM:604416
HP:0025408	Abnormal spleen morphology	970	CD70	OMIM:618261
HP:0025408	Abnormal spleen morphology	7840	ALMS1	ORPHA:64
HP:0025408	Abnormal spleen morphology	9056	SLC7A7	ORPHA:470
HP:0025408	Abnormal spleen morphology	10312	TCIRG1	ORPHA:210110
HP:0025408	Abnormal spleen morphology	1186	CLCN7	ORPHA:210110
HP:0025408	Abnormal spleen morphology	9842	PLEKHM1	ORPHA:210110
HP:0025408	Abnormal spleen morphology	6772	STAT1	ORPHA:391487
HP:0025408	Abnormal spleen morphology	10043	TOM1	ORPHA:391487
HP:0025408	Abnormal spleen morphology	6521	SLC4A1	OMIM:611590
HP:0025408	Abnormal spleen morphology	3572	IL6ST	OMIM:619750
HP:0025408	Abnormal spleen morphology	6774	STAT3	OMIM:615952
HP:0025408	Abnormal spleen morphology	199221	DZIP1L	OMIM:617610
HP:0025408	Abnormal spleen morphology	199221	DZIP1L	ORPHA:731
HP:0025408	Abnormal spleen morphology	5580	PRKCD	OMIM:615559
HP:0025408	Abnormal spleen morphology	5828	PEX2	OMIM:614866
HP:0025408	Abnormal spleen morphology	83706	FERMT3	OMIM:612840
HP:0025408	Abnormal spleen morphology	8517	IKBKG	OMIM:301081
HP:0025408	Abnormal spleen morphology	6513	SLC2A1	ORPHA:168577
HP:0025408	Abnormal spleen morphology	65992	DDRGK1	ORPHA:93352
HP:0025408	Abnormal spleen morphology	5551	PRF1	OMIM:603553
HP:0025408	Abnormal spleen morphology	3575	IL7R	ORPHA:169154
HP:0025408	Abnormal spleen morphology	100147744	RNU7-1	OMIM:619487
HP:0025408	Abnormal spleen morphology	100147744	RNU7-1	ORPHA:51
HP:0025408	Abnormal spleen morphology	374354	NHLRC2	OMIM:618278
HP:0025408	Abnormal spleen morphology	57169	ZNFX1	OMIM:619644
HP:0025408	Abnormal spleen morphology	2263	FGFR2	OMIM:614592
HP:0025408	Abnormal spleen morphology	2263	FGFR2	ORPHA:313855
HP:0025408	Abnormal spleen morphology	5788	PTPRC	OMIM:619924
HP:0025408	Abnormal spleen morphology	51816	ADA2	OMIM:615688
HP:0025408	Abnormal spleen morphology	51473	DCDC2	ORPHA:84081
HP:0025408	Abnormal spleen morphology	10165	SLC25A13	ORPHA:247598
HP:0025408	Abnormal spleen morphology	9371	KIF3B	OMIM:618955
HP:0025408	Abnormal spleen morphology	5294	PIK3CG	OMIM:619802
HP:0025408	Abnormal spleen morphology	2729	GCLC	ORPHA:33574
HP:0025408	Abnormal spleen morphology	7841	MOGS	ORPHA:79330
HP:0025408	Abnormal spleen morphology	388015	RTL1	ORPHA:96334
HP:0025408	Abnormal spleen morphology	8788	DLK1	ORPHA:96334
HP:0025408	Abnormal spleen morphology	55384	MEG3	ORPHA:96334
HP:0025408	Abnormal spleen morphology	6663	SOX10	OMIM:609136
HP:0025408	Abnormal spleen morphology	114548	NLRP3	OMIM:607115
HP:0025408	Abnormal spleen morphology	91949	COG7	ORPHA:79333
HP:0025408	Abnormal spleen morphology	3718	JAK3	ORPHA:35078
HP:0025408	Abnormal spleen morphology	760	CA2	OMIM:259730
HP:0025408	Abnormal spleen morphology	19	ABCA1	ORPHA:31150
HP:0025408	Abnormal spleen morphology	5314	PKHD1	ORPHA:731
HP:0025408	Abnormal spleen morphology	9968	MED12	OMIM:301068
HP:0025408	Abnormal spleen morphology	3930	LBR	OMIM:215140
HP:0025408	Abnormal spleen morphology	7030	TFE3	OMIM:301066
HP:0025408	Abnormal spleen morphology	5873	RAB27A	OMIM:607624
HP:0025408	Abnormal spleen morphology	84868	HAVCR2	ORPHA:86884
HP:0025408	Abnormal spleen morphology	2193	FARSA	OMIM:619013
HP:0025408	Abnormal spleen morphology	5194	PEX13	OMIM:614885
HP:0025408	Abnormal spleen morphology	3458	IFNG	OMIM:618963
HP:0025408	Abnormal spleen morphology	84317	CCDC115	OMIM:616828
HP:0025408	Abnormal spleen morphology	10020	GNE	ORPHA:3166
HP:0025408	Abnormal spleen morphology	83737	ITCH	ORPHA:228426
HP:0025408	Abnormal spleen morphology	9939	RBM8A	OMIM:274000
HP:0025408	Abnormal spleen morphology	57410	SCYL1	ORPHA:466794
HP:0025408	Abnormal spleen morphology	8813	DPM1	ORPHA:79322
HP:0025408	Abnormal spleen morphology	84153	RNASEH2C	OMIM:610329
HP:0025408	Abnormal spleen morphology	84153	RNASEH2C	ORPHA:51
HP:0025408	Abnormal spleen morphology	28962	OSTM1	OMIM:259720
HP:0025408	Abnormal spleen morphology	1513	CTSK	ORPHA:763
HP:0025408	Abnormal spleen morphology	11133	KPTN	ORPHA:397612
HP:0025408	Abnormal spleen morphology	9742	IFT140	OMIM:266920
HP:0025408	Abnormal spleen morphology	10535	RNASEH2A	OMIM:610333
HP:0025408	Abnormal spleen morphology	10535	RNASEH2A	ORPHA:51
HP:0025408	Abnormal spleen morphology	7535	ZAP70	ORPHA:911
HP:0025408	Abnormal spleen morphology	25939	SAMHD1	ORPHA:51
HP:0025408	Abnormal spleen morphology	79621	RNASEH2B	ORPHA:51
HP:0025408	Abnormal spleen morphology	103	ADAR	ORPHA:51
HP:0025408	Abnormal spleen morphology	11277	TREX1	ORPHA:51
HP:0025408	Abnormal spleen morphology	134353	LSM11	ORPHA:51
HP:0025408	Abnormal spleen morphology	64135	IFIH1	ORPHA:51
HP:0025408	Abnormal spleen morphology	6005	RHAG	ORPHA:71275
HP:0025408	Abnormal spleen morphology	6006	RHCE	ORPHA:71275
HP:0025408	Abnormal spleen morphology	6007	RHD	ORPHA:71275
HP:0025408	Abnormal spleen morphology	8600	TNFSF11	OMIM:259710
HP:0025408	Abnormal spleen morphology	6309	SC5D	OMIM:607330
HP:0025408	Abnormal spleen morphology	1497	CTNS	OMIM:219800
HP:0025408	Abnormal spleen morphology	5728	PTEN	OMIM:605309
HP:0025408	Abnormal spleen morphology	5728	PTEN	ORPHA:2969
HP:0025408	Abnormal spleen morphology	5728	PTEN	ORPHA:744
HP:0025408	Abnormal spleen morphology	7293	TNFRSF4	OMIM:615593
HP:0025408	Abnormal spleen morphology	3783	KCNN4	OMIM:616689
HP:0025408	Abnormal spleen morphology	3783	KCNN4	ORPHA:3202
HP:0025408	Abnormal spleen morphology	1161	ERCC8	ORPHA:90324
HP:0025408	Abnormal spleen morphology	1161	ERCC8	OMIM:216400
HP:0025408	Abnormal spleen morphology	2074	ERCC6	ORPHA:90324
HP:0025408	Abnormal spleen morphology	2074	ERCC6	OMIM:133540
HP:0025408	Abnormal spleen morphology	8573	CASK	OMIM:300908
HP:0025408	Abnormal spleen morphology	2539	G6PD	OMIM:300908
HP:0025408	Abnormal spleen morphology	4860	PNP	OMIM:613179
HP:0025408	Abnormal spleen morphology	755	CFAP410	OMIM:602271
HP:0025408	Abnormal spleen morphology	148738	HJV	OMIM:602390
HP:0025408	Abnormal spleen morphology	80270	HSD3B7	ORPHA:79301
HP:0025408	Abnormal spleen morphology	80270	HSD3B7	OMIM:607765
HP:0025408	Abnormal spleen morphology	197131	UBR1	OMIM:243800
HP:0025408	Abnormal spleen morphology	4210	MEFV	OMIM:249100
HP:0025408	Abnormal spleen morphology	4210	MEFV	ORPHA:342
HP:0025408	Abnormal spleen morphology	4210	MEFV	ORPHA:117
HP:0025408	Abnormal spleen morphology	84433	CARD11	OMIM:616452
HP:0025408	Abnormal spleen morphology	5184	PEPD	OMIM:170100
HP:0025408	Abnormal spleen morphology	5184	PEPD	ORPHA:742
HP:0025408	Abnormal spleen morphology	84936	ZFYVE19	OMIM:619849
HP:0025408	Abnormal spleen morphology	10730	YME1L1	OMIM:617302
HP:0025408	Abnormal spleen morphology	55768	NGLY1	ORPHA:404454
HP:0025408	Abnormal spleen morphology	1536	CYBB	ORPHA:379
HP:0025408	Abnormal spleen morphology	1536	CYBB	OMIM:306400
HP:0025408	Abnormal spleen morphology	4688	NCF2	ORPHA:379
HP:0025408	Abnormal spleen morphology	4688	NCF2	OMIM:233710
HP:0025408	Abnormal spleen morphology	1535	CYBA	ORPHA:379
HP:0025408	Abnormal spleen morphology	1535	CYBA	OMIM:233690
HP:0025408	Abnormal spleen morphology	4689	NCF4	ORPHA:379
HP:0025408	Abnormal spleen morphology	653361	NCF1	ORPHA:379
HP:0025408	Abnormal spleen morphology	653361	NCF1	OMIM:233700
HP:0025408	Abnormal spleen morphology	23495	TNFRSF13B	OMIM:240500
HP:0025408	Abnormal spleen morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025408	Abnormal spleen morphology	115650	TNFRSF13C	OMIM:240500
HP:0025408	Abnormal spleen morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025408	Abnormal spleen morphology	1380	CR2	OMIM:240500
HP:0025408	Abnormal spleen morphology	1380	CR2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	1380	CR2	OMIM:614699
HP:0025408	Abnormal spleen morphology	29851	ICOS	OMIM:240500
HP:0025408	Abnormal spleen morphology	29851	ICOS	OMIM:607594
HP:0025408	Abnormal spleen morphology	29851	ICOS	ORPHA:1572
HP:0025408	Abnormal spleen morphology	930	CD19	OMIM:240500
HP:0025408	Abnormal spleen morphology	930	CD19	ORPHA:1572
HP:0025408	Abnormal spleen morphology	60561	RINT1	OMIM:618641
HP:0025408	Abnormal spleen morphology	1493	CTLA4	OMIM:616100
HP:0025408	Abnormal spleen morphology	1493	CTLA4	ORPHA:3162
HP:0025408	Abnormal spleen morphology	1493	CTLA4	ORPHA:2584
HP:0025408	Abnormal spleen morphology	54567	DLL4	OMIM:616589
HP:0025408	Abnormal spleen morphology	1716	DGUOK	OMIM:251880
HP:0025408	Abnormal spleen morphology	1716	DGUOK	OMIM:617068
HP:0025408	Abnormal spleen morphology	1441	CSF3R	OMIM:162830
HP:0025408	Abnormal spleen morphology	2035	EPB41	ORPHA:288
HP:0025408	Abnormal spleen morphology	2035	EPB41	OMIM:611804
HP:0025408	Abnormal spleen morphology	2995	GYPC	ORPHA:288
HP:0025408	Abnormal spleen morphology	6710	SPTB	ORPHA:288
HP:0025408	Abnormal spleen morphology	6710	SPTB	ORPHA:822
HP:0025408	Abnormal spleen morphology	6710	SPTB	OMIM:616649
HP:0025408	Abnormal spleen morphology	6708	SPTA1	ORPHA:288
HP:0025408	Abnormal spleen morphology	6708	SPTA1	ORPHA:822
HP:0025408	Abnormal spleen morphology	28755	TRAC	OMIM:615387
HP:0025408	Abnormal spleen morphology	2623	GATA1	OMIM:314050
HP:0025408	Abnormal spleen morphology	2623	GATA1	ORPHA:231393
HP:0025408	Abnormal spleen morphology	2623	GATA1	ORPHA:79277
HP:0025408	Abnormal spleen morphology	1371	CPOX	OMIM:618892
HP:0025408	Abnormal spleen morphology	1371	CPOX	OMIM:121300
HP:0025408	Abnormal spleen morphology	80739	MPIG6B	OMIM:617441
HP:0025408	Abnormal spleen morphology	4645	MYO5B	OMIM:619868
HP:0025408	Abnormal spleen morphology	3039	HBA1	ORPHA:163596
HP:0025408	Abnormal spleen morphology	3039	HBA1	OMIM:613978
HP:0025408	Abnormal spleen morphology	3040	HBA2	ORPHA:163596
HP:0025408	Abnormal spleen morphology	3040	HBA2	OMIM:613978
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:133100
HP:0025408	Abnormal spleen morphology	10019	SH2B3	ORPHA:3318
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:187950
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:254450
HP:0025408	Abnormal spleen morphology	2057	EPOR	OMIM:133100
HP:0025408	Abnormal spleen morphology	595	CCND1	ORPHA:29073
HP:0025408	Abnormal spleen morphology	595	CCND1	ORPHA:52416
HP:0025408	Abnormal spleen morphology	54914	FOCAD	OMIM:619991
HP:0025408	Abnormal spleen morphology	27125	AFF4	OMIM:616368
HP:0025408	Abnormal spleen morphology	5295	PIK3R1	OMIM:616005
HP:0025408	Abnormal spleen morphology	286	ANK1	ORPHA:251066
HP:0025408	Abnormal spleen morphology	286	ANK1	OMIM:182900
HP:0025408	Abnormal spleen morphology	286	ANK1	ORPHA:822
HP:0025408	Abnormal spleen morphology	285362	SUMF1	OMIM:272200
HP:0025408	Abnormal spleen morphology	285362	SUMF1	ORPHA:585
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	OMIM:603554
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	OMIM:602450
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	ORPHA:39041
HP:0025408	Abnormal spleen morphology	2990	GUSB	ORPHA:584
HP:0025408	Abnormal spleen morphology	2990	GUSB	OMIM:253220
HP:0025408	Abnormal spleen morphology	8676	STX11	OMIM:603552
HP:0025408	Abnormal spleen morphology	8676	STX11	ORPHA:540
HP:0025408	Abnormal spleen morphology	5244	ABCB4	OMIM:602347
HP:0025408	Abnormal spleen morphology	11311	VPS45	OMIM:615285
HP:0025408	Abnormal spleen morphology	2542	SLC37A4	OMIM:619525
HP:0025408	Abnormal spleen morphology	2542	SLC37A4	OMIM:232220
HP:0025408	Abnormal spleen morphology	540	ATP7B	OMIM:277900
HP:0025408	Abnormal spleen morphology	540	ATP7B	ORPHA:905
HP:0025408	Abnormal spleen morphology	2683	B4GALT1	ORPHA:79332
HP:0025408	Abnormal spleen morphology	4000	LMNA	ORPHA:280365
HP:0025408	Abnormal spleen morphology	4000	LMNA	ORPHA:2348
HP:0025408	Abnormal spleen morphology	2153	F5	ORPHA:131
HP:0025408	Abnormal spleen morphology	5692	PSMB4	OMIM:617591
HP:0025408	Abnormal spleen morphology	5698	PSMB9	OMIM:617591
HP:0025408	Abnormal spleen morphology	79989	IFT56	OMIM:619534
HP:0025408	Abnormal spleen morphology	5286	PIK3C2A	OMIM:618440
HP:0025408	Abnormal spleen morphology	4851	NOTCH1	OMIM:616028
HP:0025408	Abnormal spleen morphology	654	BMP6	ORPHA:465508
HP:0025408	Abnormal spleen morphology	3077	HFE	ORPHA:465508
HP:0025408	Abnormal spleen morphology	3077	HFE	OMIM:235200
HP:0025408	Abnormal spleen morphology	54532	USP53	OMIM:619658
HP:0025408	Abnormal spleen morphology	2184	FAH	OMIM:276700
HP:0025408	Abnormal spleen morphology	2184	FAH	ORPHA:882
HP:0025408	Abnormal spleen morphology	64127	NOD2	ORPHA:90340
HP:0025408	Abnormal spleen morphology	51311	TLR8	OMIM:301078
HP:0025408	Abnormal spleen morphology	4615	MYD88	ORPHA:33226
HP:0025408	Abnormal spleen morphology	5825	ABCD3	OMIM:616278
HP:0025408	Abnormal spleen morphology	5256	PHKA2	ORPHA:264580
HP:0025408	Abnormal spleen morphology	5256	PHKA2	OMIM:306000
HP:0025408	Abnormal spleen morphology	5261	PHKG2	ORPHA:264580
HP:0025408	Abnormal spleen morphology	5261	PHKG2	OMIM:613027
HP:0025408	Abnormal spleen morphology	344	APOC2	OMIM:207750
HP:0025408	Abnormal spleen morphology	5277	PIGA	OMIM:301072
HP:0025408	Abnormal spleen morphology	846	CASR	OMIM:239200
HP:0025408	Abnormal spleen morphology	846	CASR	ORPHA:417
HP:0025408	Abnormal spleen morphology	4594	MMUT	ORPHA:79312
HP:0025408	Abnormal spleen morphology	950	SCARB2	ORPHA:77259
HP:0025408	Abnormal spleen morphology	149233	IL23R	ORPHA:117
HP:0025408	Abnormal spleen morphology	3586	IL10	ORPHA:117
HP:0025408	Abnormal spleen morphology	1230	CCR1	ORPHA:117
HP:0025408	Abnormal spleen morphology	355	FAS	ORPHA:117
HP:0025408	Abnormal spleen morphology	355	FAS	ORPHA:3261
HP:0025408	Abnormal spleen morphology	355	FAS	OMIM:601859
HP:0025408	Abnormal spleen morphology	3592	IL12A	ORPHA:117
HP:0025408	Abnormal spleen morphology	101928376	IL12A-AS1	ORPHA:117
HP:0025408	Abnormal spleen morphology	3106	HLA-B	ORPHA:117
HP:0025408	Abnormal spleen morphology	7099	TLR4	ORPHA:117
HP:0025408	Abnormal spleen morphology	720	C4A	ORPHA:117
HP:0025408	Abnormal spleen morphology	337867	UBAC2	ORPHA:117
HP:0025408	Abnormal spleen morphology	51752	ERAP1	ORPHA:117
HP:0025408	Abnormal spleen morphology	8302	KLRC4	ORPHA:117
HP:0025408	Abnormal spleen morphology	5290	PIK3CA	OMIM:612918
HP:0025408	Abnormal spleen morphology	6448	SGSH	OMIM:252900
HP:0025408	Abnormal spleen morphology	331	XIAP	OMIM:300635
HP:0025408	Abnormal spleen morphology	331	XIAP	OMIM:308240
HP:0025408	Abnormal spleen morphology	22806	IKZF3	OMIM:619437
HP:0025408	Abnormal spleen morphology	6916	TBXAS1	ORPHA:1802
HP:0025408	Abnormal spleen morphology	596	BCL2	ORPHA:545
HP:0025408	Abnormal spleen morphology	3492	IGH	ORPHA:545
HP:0025408	Abnormal spleen morphology	3492	IGH	ORPHA:52416
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	ORPHA:545
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	ORPHA:85414
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	OMIM:181000
HP:0025408	Abnormal spleen morphology	604	BCL6	ORPHA:545
HP:0025408	Abnormal spleen morphology	959	CD40LG	OMIM:308230
HP:0025408	Abnormal spleen morphology	23451	SF3B1	ORPHA:75564
HP:0025408	Abnormal spleen morphology	29887	SNX10	ORPHA:667
HP:0025408	Abnormal spleen morphology	29887	SNX10	OMIM:615085
HP:0025408	Abnormal spleen morphology	5009	OTC	ORPHA:664
HP:0025408	Abnormal spleen morphology	7372	UMPS	ORPHA:30
HP:0025408	Abnormal spleen morphology	58484	NLRC4	OMIM:616050
HP:0025408	Abnormal spleen morphology	57104	PNPLA2	ORPHA:565612
HP:0025408	Abnormal spleen morphology	22861	NLRP1	OMIM:617388
HP:0025408	Abnormal spleen morphology	5660	PSAP	OMIM:611721
HP:0025408	Abnormal spleen morphology	5660	PSAP	OMIM:610539
HP:0025408	Abnormal spleen morphology	5660	PSAP	ORPHA:139406
HP:0025408	Abnormal spleen morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025408	Abnormal spleen morphology	4068	SH2D1A	OMIM:308240
HP:0025408	Abnormal spleen morphology	23218	NBEAL2	OMIM:139090
HP:0025408	Abnormal spleen morphology	23218	NBEAL2	ORPHA:721
HP:0025408	Abnormal spleen morphology	84061	MAGT1	OMIM:300853
HP:0025408	Abnormal spleen morphology	3756	KCNH1	OMIM:135500
HP:0025408	Abnormal spleen morphology	3756	KCNH1	ORPHA:3473
HP:0025408	Abnormal spleen morphology	3394	IRF8	OMIM:226990
HP:0025408	Abnormal spleen morphology	6718	AKR1D1	OMIM:235555
HP:0025408	Abnormal spleen morphology	4864	NPC1	OMIM:257220
HP:0025408	Abnormal spleen morphology	1312	COMT	ORPHA:567
HP:0025408	Abnormal spleen morphology	221037	JMJD1C	ORPHA:567
HP:0025408	Abnormal spleen morphology	2812	GP1BB	ORPHA:567
HP:0025408	Abnormal spleen morphology	6239	RREB1	ORPHA:567
HP:0025408	Abnormal spleen morphology	6899	TBX1	ORPHA:567
HP:0025408	Abnormal spleen morphology	6899	TBX1	OMIM:188400
HP:0025408	Abnormal spleen morphology	7290	HIRA	ORPHA:567
HP:0025408	Abnormal spleen morphology	9632	SEC24C	ORPHA:567
HP:0025408	Abnormal spleen morphology	7353	UFD1	ORPHA:567
HP:0025408	Abnormal spleen morphology	421	ARVCF	ORPHA:567
HP:0025408	Abnormal spleen morphology	7389	UROD	ORPHA:95159
HP:0025408	Abnormal spleen morphology	212	ALAS2	ORPHA:75563
HP:0025408	Abnormal spleen morphology	55630	SLC39A4	OMIM:201100
HP:0025408	Abnormal spleen morphology	546	ATRX	ORPHA:231401
HP:0025408	Abnormal spleen morphology	55340	GIMAP5	OMIM:619463
HP:0025408	Abnormal spleen morphology	8883	NAE1	OMIM:620210
HP:0025408	Abnormal spleen morphology	84701	COX4I2	OMIM:612714
HP:0025408	Abnormal spleen morphology	650	BMP2	OMIM:235200
HP:0025408	Abnormal spleen morphology	8943	AP3D1	OMIM:617050
HP:0025408	Abnormal spleen morphology	57003	CCDC47	OMIM:618268
HP:0025408	Abnormal spleen morphology	51095	TRNT1	OMIM:616084
HP:0025408	Abnormal spleen morphology	6023	RMRP	ORPHA:39041
HP:0025408	Abnormal spleen morphology	55636	CHD7	ORPHA:39041
HP:0025408	Abnormal spleen morphology	3981	LIG4	ORPHA:39041
HP:0025408	Abnormal spleen morphology	100	ADA	ORPHA:39041
HP:0025408	Abnormal spleen morphology	100	ADA	OMIM:102700
HP:0025408	Abnormal spleen morphology	3561	IL2RG	ORPHA:39041
HP:0025408	Abnormal spleen morphology	207	AKT1	ORPHA:744
HP:0025408	Abnormal spleen morphology	207	AKT1	OMIM:176920
HP:0025408	Abnormal spleen morphology	7504	XK	OMIM:300842
HP:0025408	Abnormal spleen morphology	10483	SEC23B	OMIM:224100
HP:0025408	Abnormal spleen morphology	60468	BACH2	OMIM:618394
HP:0025408	Abnormal spleen morphology	226	ALDOA	OMIM:611881
HP:0025408	Abnormal spleen morphology	3557	IL1RN	OMIM:612852
HP:0025408	Abnormal spleen morphology	91662	NLRP12	OMIM:611762
HP:0025408	Abnormal spleen morphology	2799	GNS	OMIM:252940
HP:0025408	Abnormal spleen morphology	5264	PHYH	ORPHA:773
HP:0025408	Abnormal spleen morphology	5191	PEX7	ORPHA:773
HP:0025408	Abnormal spleen morphology	940	CD28	ORPHA:3162
HP:0025408	Abnormal spleen morphology	940	CD28	ORPHA:2584
HP:0025408	Abnormal spleen morphology	7133	TNFRSF1B	ORPHA:3162
HP:0025408	Abnormal spleen morphology	7133	TNFRSF1B	ORPHA:2584
HP:0025408	Abnormal spleen morphology	7390	UROS	OMIM:263700
HP:0025408	Abnormal spleen morphology	7390	UROS	ORPHA:79277
HP:0025408	Abnormal spleen morphology	4938	OAS1	OMIM:618042
HP:0025408	Abnormal spleen morphology	8651	SOCS1	OMIM:619375
HP:0025408	Abnormal spleen morphology	3295	HSD17B4	OMIM:261515
HP:0025408	Abnormal spleen morphology	138050	HGSNAT	OMIM:252930
HP:0025408	Abnormal spleen morphology	5313	PKLR	ORPHA:766
HP:0025408	Abnormal spleen morphology	5313	PKLR	OMIM:266200
HP:0025408	Abnormal spleen morphology	6850	SYK	OMIM:619381
HP:0025408	Abnormal spleen morphology	613	BCR	ORPHA:521
HP:0025408	Abnormal spleen morphology	25	ABL1	ORPHA:521
HP:0025408	Abnormal spleen morphology	51626	DYNC2LI1	OMIM:617088
HP:0025408	Abnormal spleen morphology	5257	PHKB	OMIM:261750
HP:0025408	Abnormal spleen morphology	5257	PHKB	ORPHA:79240
HP:0025408	Abnormal spleen morphology	146059	CDAN1	OMIM:224120
HP:0025408	Abnormal spleen morphology	9652	SKIC3	ORPHA:84064
HP:0025408	Abnormal spleen morphology	9652	SKIC3	OMIM:222470
HP:0025408	Abnormal spleen morphology	6499	SKIC2	ORPHA:84064
HP:0025408	Abnormal spleen morphology	5696	PSMB8	OMIM:256040
HP:0025408	Abnormal spleen morphology	4669	NAGLU	OMIM:252920
HP:0025408	Abnormal spleen morphology	26276	VPS33B	OMIM:620010
HP:0025408	Abnormal spleen morphology	7066	THPO	ORPHA:71493
HP:0025408	Abnormal spleen morphology	7066	THPO	OMIM:187950
HP:0025408	Abnormal spleen morphology	356	FASLG	ORPHA:3261
HP:0025408	Abnormal spleen morphology	356	FASLG	OMIM:601859
HP:0025408	Abnormal spleen morphology	843	CASP10	ORPHA:3261
HP:0025408	Abnormal spleen morphology	843	CASP10	OMIM:603909
HP:0025408	Abnormal spleen morphology	2811	GP1BA	OMIM:153670
HP:0025408	Abnormal spleen morphology	144811	LACC1	ORPHA:85414
HP:0025408	Abnormal spleen morphology	4282	MIF	ORPHA:85414
HP:0025408	Abnormal spleen morphology	3569	IL6	ORPHA:85414
HP:0025408	Abnormal spleen morphology	55532	SLC30A10	ORPHA:309854
HP:0025408	Abnormal spleen morphology	673	BRAF	OMIM:115150
HP:0025408	Abnormal spleen morphology	3815	KIT	ORPHA:98849
HP:0025408	Abnormal spleen morphology	987	LRBA	OMIM:614700
HP:0025408	Abnormal spleen morphology	2038	EPB42	ORPHA:822
HP:0025408	Abnormal spleen morphology	2038	EPB42	OMIM:612690
HP:0025408	Abnormal spleen morphology	23149	FCHO1	OMIM:619164
HP:0025408	Abnormal spleen morphology	1352	COX10	OMIM:619046
HP:0025408	Abnormal spleen morphology	841	CASP8	OMIM:607271
HP:0025408	Abnormal spleen morphology	8647	ABCB11	OMIM:601847
HP:0025408	Abnormal spleen morphology	5699	PSMB10	OMIM:619175
HP:0025408	Abnormal spleen morphology	348	APOE	OMIM:269600
HP:0025408	Abnormal spleen morphology	348	APOE	ORPHA:158029
HP:0025408	Abnormal spleen morphology	5468	PPARG	ORPHA:79083
HP:0025408	Abnormal spleen morphology	686	BTD	OMIM:253260
HP:0025408	Abnormal spleen morphology	8792	TNFRSF11A	OMIM:612301
HP:0025408	Abnormal spleen morphology	10555	AGPAT2	OMIM:608594
HP:0025408	Abnormal spleen morphology	56984	PSMG2	OMIM:619183
HP:0025408	Abnormal spleen morphology	1717	DHCR7	OMIM:270400
HP:0025408	Abnormal spleen morphology	23230	VPS13A	ORPHA:2388
HP:0025408	Abnormal spleen morphology	526	ATP6V1B2	ORPHA:3473
HP:0025408	Abnormal spleen morphology	3782	KCNN3	ORPHA:3473
HP:0025408	Abnormal spleen morphology	175	AGA	ORPHA:93
HP:0025408	Abnormal spleen morphology	4853	NOTCH2	ORPHA:955
HP:0025408	Abnormal spleen morphology	338328	GPIHBP1	OMIM:615947
HP:0025408	Abnormal spleen morphology	80216	ALPK1	OMIM:614979
HP:0025408	Abnormal spleen morphology	4069	LYZ	OMIM:105200
HP:0025408	Abnormal spleen morphology	335	APOA1	OMIM:105200
HP:0025408	Abnormal spleen morphology	567	B2M	OMIM:105200
HP:0025408	Abnormal spleen morphology	472	ATM	ORPHA:52416
HP:0025408	Abnormal spleen morphology	9508	ADAMTS3	ORPHA:2136
HP:0025408	Abnormal spleen morphology	147372	CCBE1	ORPHA:2136
HP:0025408	Abnormal spleen morphology	79633	FAT4	ORPHA:2136
HP:0025408	Abnormal spleen morphology	6609	SMPD1	OMIM:257200
HP:0025408	Abnormal spleen morphology	6609	SMPD1	ORPHA:77293
HP:0025408	Abnormal spleen morphology	6609	SMPD1	OMIM:607616
HP:0025408	Abnormal spleen morphology	2624	GATA2	ORPHA:3226
HP:0025408	Abnormal spleen morphology	3662	IRF4	ORPHA:3452
HP:0025408	Abnormal spleen morphology	50943	FOXP3	ORPHA:37042
HP:0025408	Abnormal spleen morphology	50628	GEMIN4	OMIM:617913
HP:0025408	Abnormal spleen morphology	57817	HAMP	OMIM:613313
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	ORPHA:3202
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	OMIM:616843
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	OMIM:194380
HP:0025408	Abnormal spleen morphology	64241	ABCG8	OMIM:210250
HP:0025408	Abnormal spleen morphology	93183	PIGM	OMIM:610293
HP:0025408	Abnormal spleen morphology	284119	CAVIN1	OMIM:613327
HP:0025408	Abnormal spleen morphology	219285	SAMD9L	ORPHA:2585
HP:0025408	Abnormal spleen morphology	56052	ALG1	OMIM:608540
HP:0025408	Abnormal spleen morphology	7167	TPI1	OMIM:615512
HP:0025408	Abnormal spleen morphology	26160	IFT172	OMIM:615630
HP:0025408	Abnormal spleen morphology	84529	CDIN1	OMIM:615631
HP:0025408	Abnormal spleen morphology	5293	PIK3CD	OMIM:615513
HP:0025408	Abnormal spleen morphology	5156	PDGFRA	OMIM:607685
HP:0025408	Abnormal spleen morphology	1776	DNASE1L3	ORPHA:36412
HP:0025408	Abnormal spleen morphology	4173	MCM4	OMIM:609981
HP:0025408	Abnormal spleen morphology	79650	USB1	OMIM:604173
HP:0025408	Abnormal spleen morphology	79650	USB1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	411	ARSB	OMIM:253200
HP:0025408	Abnormal spleen morphology	669	BPGM	OMIM:222800
HP:0025408	Abnormal spleen morphology	9948	WDR1	OMIM:150550
HP:0025408	Abnormal spleen morphology	4792	NFKBIA	OMIM:612132
HP:0025408	Abnormal spleen morphology	9076	CLDN1	ORPHA:59303
HP:0025408	Abnormal spleen morphology	9076	CLDN1	OMIM:607626
HP:0025408	Abnormal spleen morphology	2821	GPI	OMIM:613470
HP:0025408	Abnormal spleen morphology	6097	RORC	OMIM:616622
HP:0025408	Abnormal spleen morphology	10616	RBCK1	OMIM:615895
HP:0025408	Abnormal spleen morphology	56244	BTNL2	OMIM:612387
HP:0025408	Abnormal spleen morphology	3248	HPGD	ORPHA:2796
HP:0025408	Abnormal spleen morphology	6578	SLCO2A1	ORPHA:2796
HP:0025408	Abnormal spleen morphology	57511	COG6	OMIM:614576
HP:0025408	Abnormal spleen morphology	56623	INPP5E	ORPHA:1454
HP:0025408	Abnormal spleen morphology	4790	NFKB1	ORPHA:1572
HP:0025408	Abnormal spleen morphology	4791	NFKB2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	8742	TNFSF12	ORPHA:1572
HP:0025408	Abnormal spleen morphology	931	MS4A1	ORPHA:1572
HP:0025408	Abnormal spleen morphology	975	CD81	ORPHA:1572
HP:0025408	Abnormal spleen morphology	359948	IRF2BP2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	2328	FMO3	OMIM:602079
HP:0025408	Abnormal spleen morphology	5265	SERPINA1	OMIM:613490
HP:0025408	Abnormal spleen morphology	10367	MICU1	OMIM:615673
HP:0025408	Abnormal spleen morphology	26580	BSCL2	OMIM:269700
HP:0025408	Abnormal spleen morphology	3702	ITK	OMIM:613011
HP:0025408	Abnormal spleen morphology	2517	FUCA1	OMIM:230000
HP:0025408	Abnormal spleen morphology	2548	GAA	OMIM:232300
HP:0025408	Abnormal spleen morphology	5205	ATP8B1	OMIM:211600
HP:0025408	Abnormal spleen morphology	2065	ERBB3	OMIM:133180
HP:0025408	Abnormal spleen morphology	1718	DHCR24	ORPHA:35107
HP:0025408	Abnormal spleen morphology	4893	NRAS	OMIM:614470
HP:0025408	Abnormal spleen morphology	3098	HK1	OMIM:235700
HP:0025408	Abnormal spleen morphology	3931	LCAT	ORPHA:79292
HP:0025408	Abnormal spleen morphology	100506658	OCLN	OMIM:251290
HP:0025408	Abnormal spleen morphology	10577	NPC2	OMIM:607625
HP:0025408	Abnormal spleen morphology	2819	GPD1	OMIM:614480
HP:0025408	Abnormal spleen morphology	26503	SLC17A5	OMIM:269920
HP:0025408	Abnormal spleen morphology	27040	LAT	OMIM:617514
HP:0025408	Abnormal spleen morphology	4724	NDUFS4	OMIM:252010
HP:0025408	Abnormal spleen morphology	81570	CLPB	OMIM:619813
HP:0025408	Abnormal spleen morphology	8737	RIPK1	OMIM:618852
HP:0025408	Abnormal spleen morphology	10464	PIBF1	OMIM:617767
HP:0025408	Abnormal spleen morphology	80169	CTC1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	26277	TINF2	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55651	NHP2	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55135	WRAP53	ORPHA:1775
HP:0025408	Abnormal spleen morphology	51750	RTEL1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	4869	NPM1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7012	TERC	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55505	NOP10	ORPHA:1775
HP:0025408	Abnormal spleen morphology	5073	PARN	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7015	TERT	ORPHA:1775
HP:0025408	Abnormal spleen morphology	1736	DKC1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7298	TYMS	ORPHA:1775
HP:0025408	Abnormal spleen morphology	3636	INPPL1	ORPHA:2746
HP:0025408	Abnormal spleen morphology	6929	TCF3	OMIM:619824
HP:0025408	Abnormal spleen morphology	2582	GALE	OMIM:230350
HP:0025408	Abnormal spleen morphology	27019	DNAI1	OMIM:244400
HP:0025408	Abnormal spleen morphology	27019	DNAI1	ORPHA:244
HP:0025408	Abnormal spleen morphology	7547	ZIC3	OMIM:306955
HP:0025408	Abnormal spleen morphology	2294	FOXF1	OMIM:265380
HP:0025408	Abnormal spleen morphology	2294	FOXF1	ORPHA:210122
HP:0025408	Abnormal spleen morphology	326	AIRE	OMIM:240300
HP:0025408	Abnormal spleen morphology	2657	GDF1	OMIM:208530
HP:0025408	Abnormal spleen morphology	55329	MNS1	OMIM:618948
HP:0025408	Abnormal spleen morphology	4087	SMAD2	OMIM:619657
HP:0025408	Abnormal spleen morphology	284086	NEK8	OMIM:615415
HP:0025408	Abnormal spleen morphology	7473	WNT3	OMIM:273395
HP:0025408	Abnormal spleen morphology	4838	NODAL	OMIM:270100
HP:0025408	Abnormal spleen morphology	84876	ORAI1	ORPHA:3204
HP:0025408	Abnormal spleen morphology	53335	BCL11A	ORPHA:251380
HP:0025408	Abnormal spleen morphology	10661	KLF1	ORPHA:251380
HP:0025408	Abnormal spleen morphology	3047	HBG1	ORPHA:251380
HP:0025408	Abnormal spleen morphology	3048	HBG2	ORPHA:251380
HP:0025408	Abnormal spleen morphology	25981	DNAH1	ORPHA:244
HP:0025408	Abnormal spleen morphology	115948	ODAD3	ORPHA:244
HP:0025408	Abnormal spleen morphology	54768	HYDIN	ORPHA:244
HP:0025408	Abnormal spleen morphology	352909	DNAAF3	ORPHA:244
HP:0025408	Abnormal spleen morphology	27148	STK36	ORPHA:244
HP:0025408	Abnormal spleen morphology	51314	NME8	ORPHA:244
HP:0025408	Abnormal spleen morphology	92749	DRC1	ORPHA:244
HP:0025408	Abnormal spleen morphology	54970	TTC12	ORPHA:244
HP:0025408	Abnormal spleen morphology	152110	NEK10	ORPHA:244
HP:0025408	Abnormal spleen morphology	8481	OFD1	ORPHA:244
HP:0025408	Abnormal spleen morphology	2302	FOXJ1	ORPHA:244
HP:0025408	Abnormal spleen morphology	221421	RSPH9	ORPHA:244
HP:0025408	Abnormal spleen morphology	85478	CCDC65	ORPHA:244
HP:0025408	Abnormal spleen morphology	55036	CCDC40	ORPHA:244
HP:0025408	Abnormal spleen morphology	51364	ZMYND10	ORPHA:244
HP:0025408	Abnormal spleen morphology	64446	DNAI2	ORPHA:244
HP:0025408	Abnormal spleen morphology	6674	SPAG1	ORPHA:244
HP:0025408	Abnormal spleen morphology	83544	DNAL1	ORPHA:244
HP:0025408	Abnormal spleen morphology	89765	RSPH1	ORPHA:244
HP:0025408	Abnormal spleen morphology	83538	ODAD4	ORPHA:244
HP:0025408	Abnormal spleen morphology	200373	CFAP221	ORPHA:244
HP:0025408	Abnormal spleen morphology	374407	DNAJB13	ORPHA:244
HP:0025408	Abnormal spleen morphology	55172	DNAAF2	ORPHA:244
HP:0025408	Abnormal spleen morphology	161582	DNAAF4	ORPHA:244
HP:0025408	Abnormal spleen morphology	2622	GAS8	ORPHA:244
HP:0025408	Abnormal spleen morphology	23639	DNAAF11	ORPHA:244
HP:0025408	Abnormal spleen morphology	345895	RSPH4A	ORPHA:244
HP:0025408	Abnormal spleen morphology	54919	DNAAF5	ORPHA:244
HP:0025408	Abnormal spleen morphology	6103	RPGR	ORPHA:244
HP:0025408	Abnormal spleen morphology	388389	CCDC103	ORPHA:244
HP:0025408	Abnormal spleen morphology	93233	ODAD1	ORPHA:244
HP:0025408	Abnormal spleen morphology	55130	ODAD2	ORPHA:244
HP:0025408	Abnormal spleen morphology	1767	DNAH5	ORPHA:244
HP:0025408	Abnormal spleen morphology	83861	RSPH3	ORPHA:244
HP:0025408	Abnormal spleen morphology	345643	MCIDAS	ORPHA:244
HP:0025408	Abnormal spleen morphology	56683	CFAP298	ORPHA:244
HP:0025408	Abnormal spleen morphology	79925	SPEF2	ORPHA:244
HP:0025408	Abnormal spleen morphology	10309	CCNO	ORPHA:244
HP:0025408	Abnormal spleen morphology	115399	LRRC56	ORPHA:244
HP:0025408	Abnormal spleen morphology	139212	DNAAF6	ORPHA:244
HP:0025408	Abnormal spleen morphology	123872	DNAAF1	ORPHA:244
HP:0025408	Abnormal spleen morphology	85016	CFAP300	ORPHA:244
HP:0025408	Abnormal spleen morphology	339829	CCDC39	ORPHA:244
HP:0025408	Abnormal spleen morphology	8701	DNAH11	ORPHA:244
HP:0025408	Abnormal spleen morphology	1770	DNAH9	ORPHA:244
HP:0025408	Abnormal spleen morphology	246176	GAS2L2	ORPHA:244
HP:0025408	Abnormal spleen morphology	9839	ZEB2	ORPHA:261537
HP:0025408	Abnormal spleen morphology	9839	ZEB2	ORPHA:261552
HP:0025408	Abnormal spleen morphology	84314	TMEM107	ORPHA:564
HP:0025408	Abnormal spleen morphology	26123	TCTN3	ORPHA:564
HP:0025408	Abnormal spleen morphology	79867	TCTN2	ORPHA:564
HP:0025408	Abnormal spleen morphology	80776	B9D2	ORPHA:564
HP:0025408	Abnormal spleen morphology	79600	TCTN1	ORPHA:564
HP:0025408	Abnormal spleen morphology	57096	RPGRIP1	ORPHA:564
HP:0025408	Abnormal spleen morphology	79848	CSPP1	ORPHA:564
HP:0025408	Abnormal spleen morphology	80184	CEP290	ORPHA:564
HP:0025408	Abnormal spleen morphology	51259	TMEM216	ORPHA:564
HP:0025408	Abnormal spleen morphology	57545	CC2D2A	ORPHA:564
HP:0025408	Abnormal spleen morphology	79583	TMEM231	ORPHA:564
HP:0025408	Abnormal spleen morphology	91147	TMEM67	ORPHA:564
HP:0025408	Abnormal spleen morphology	79770	TXNDC15	ORPHA:564
HP:0025408	Abnormal spleen morphology	27077	B9D1	ORPHA:564
HP:0025408	Abnormal spleen morphology	23322	RPGRIP1L	ORPHA:564
HP:0025408	Abnormal spleen morphology	54903	MKS1	ORPHA:564
HP:0025408	Abnormal spleen morphology	54903	MKS1	OMIM:249000
HP:0025408	Abnormal spleen morphology	65062	TMEM237	ORPHA:564
HP:0025408	Abnormal spleen morphology	27031	NPHP3	OMIM:208540
HP:0025408	Abnormal spleen morphology	3162	HMOX1	OMIM:614034
HP:0025408	Abnormal spleen morphology	90416	CCDC32	OMIM:619123
HP:0025408	Abnormal spleen morphology	4613	MYCN	OMIM:164280
HP:0025408	Abnormal spleen morphology	7291	TWIST1	OMIM:617746
HP:0025408	Abnormal spleen morphology	55997	CFC1	OMIM:605376
HP:0025408	Abnormal spleen morphology	3921	RPSA	OMIM:271400
HP:0025408	Abnormal spleen morphology	745	MYRF	OMIM:618280
HP:0025408	Abnormal spleen morphology	157570	ESCO2	OMIM:268300
HP:0025408	Abnormal spleen morphology	7490	WT1	OMIM:608978
HP:0025408	Abnormal spleen morphology	537	ATP6AP1	OMIM:300972
HP:0025408	Abnormal spleen morphology	1387	CREBBP	OMIM:180849
HP:0025408	Abnormal spleen morphology	2033	EP300	OMIM:180849
HP:0025408	Abnormal spleen morphology	8425	LTBP4	OMIM:613177
HP:0025408	Abnormal spleen morphology	55012	PPP2R3C	OMIM:618419
HP:0025408	Abnormal spleen morphology	5557	PRIM1	OMIM:620005
HP:0025408	Abnormal spleen morphology	55770	EXOC2	OMIM:619306
HP:0025408	Abnormal spleen morphology	53834	FGFRL1	OMIM:194190
HP:0025408	Abnormal spleen morphology	1487	CTBP1	OMIM:194190
HP:0025408	Abnormal spleen morphology	3954	LETM1	OMIM:194190
HP:0025408	Abnormal spleen morphology	7468	NSD2	OMIM:194190
HP:0025408	Abnormal spleen morphology	10815	CPLX1	OMIM:194190
HP:0025408	Abnormal spleen morphology	1063	CENPF	OMIM:243605
HP:0025408	Abnormal spleen morphology	219844	HYLS1	OMIM:236680
HP:0025408	Abnormal spleen morphology	2239	GPC4	ORPHA:373
HP:0025408	Abnormal spleen morphology	2239	GPC4	OMIM:312870
HP:0025408	Abnormal spleen morphology	2719	GPC3	ORPHA:373
HP:0025408	Abnormal spleen morphology	2719	GPC3	OMIM:312870
HP:0025408	Abnormal spleen morphology	8565	YARS1	OMIM:619418
HP:0025408	Abnormal spleen morphology	57539	WDR35	OMIM:613610
HP:0025408	Abnormal spleen morphology	50937	CDON	OMIM:614226
HP:0025408	Abnormal spleen morphology	118856	MMP21	OMIM:616749
HP:0025408	Abnormal spleen morphology	51715	RAB23	OMIM:201000
HP:0025408	Abnormal spleen morphology	51715	RAB23	ORPHA:65759
HP:0025408	Abnormal spleen morphology	55159	RFWD3	OMIM:617784
HP:0025408	Abnormal spleen morphology	25790	CFAP45	OMIM:619608
HP:0025408	Abnormal spleen morphology	1954	MEGF8	ORPHA:65759
HP:0025408	Abnormal spleen morphology	4598	MVK	OMIM:610377
HP:0025408	Abnormal spleen morphology	7174	TPP2	OMIM:619220
HP:0025408	Abnormal spleen morphology	54809	SAMD9	OMIM:617053
HP:0025408	Abnormal spleen morphology	55388	MCM10	OMIM:619313
HP:0025408	Abnormal spleen morphology	5649	RELN	ORPHA:89844
HP:0025408	Abnormal spleen morphology	10300	KATNB1	ORPHA:89844
HP:0025408	Abnormal spleen morphology	54820	NDE1	ORPHA:89844
HP:0025408	Abnormal spleen morphology	63901	FAM111A	OMIM:602361
HP:0025408	Abnormal spleen morphology	6786	STIM1	OMIM:185070
HP:0025408	Abnormal spleen morphology	93	ACVR2B	OMIM:613751
HP:0025408	Abnormal spleen morphology	2243	FGA	OMIM:202400
HP:0025408	Abnormal spleen morphology	2244	FGB	OMIM:202400
HP:0025408	Abnormal spleen morphology	2266	FGG	OMIM:202400
HP:0025408	Abnormal spleen morphology	64220	STRA6	OMIM:601186
HP:0025408	Abnormal spleen morphology	5915	RARB	ORPHA:2470
HP:0025408	Abnormal spleen morphology	374879	ZNF699	OMIM:619488
HP:0025408	Abnormal spleen morphology	2934	GSN	ORPHA:85448
HP:0025408	Abnormal spleen morphology	169792	GLIS3	OMIM:610199
HP:0025408	Abnormal spleen morphology	55503	TRPV6	OMIM:618188
HP:0025408	Abnormal spleen morphology	26040	SETBP1	OMIM:269150
HP:0025408	Abnormal spleen morphology	3043	HBB	OMIM:603903
HP:0025409	Abnormal spleen physiology	9968	MED12	OMIM:301068
HP:0025409	Abnormal spleen physiology	171023	ASXL1	ORPHA:98850
HP:0025409	Abnormal spleen physiology	54790	TET2	ORPHA:98850
HP:0025409	Abnormal spleen physiology	867	CBL	ORPHA:98850
HP:0025409	Abnormal spleen physiology	861	RUNX1	ORPHA:98850
HP:0025409	Abnormal spleen physiology	6427	SRSF2	ORPHA:98850
HP:0025409	Abnormal spleen physiology	355	FAS	ORPHA:3261
HP:0025409	Abnormal spleen physiology	356	FASLG	ORPHA:3261
HP:0025409	Abnormal spleen physiology	5580	PRKCD	ORPHA:3261
HP:0025409	Abnormal spleen physiology	843	CASP10	ORPHA:3261
HP:0025409	Abnormal spleen physiology	10125	RASGRP1	ORPHA:3261
HP:0025409	Abnormal spleen physiology	6609	SMPD1	ORPHA:77293
HP:0025409	Abnormal spleen physiology	2629	GBA1	OMIM:230800
HP:0025409	Abnormal spleen physiology	2629	GBA1	ORPHA:77259
HP:0025409	Abnormal spleen physiology	3043	HBB	ORPHA:231226
HP:0025409	Abnormal spleen physiology	3043	HBB	ORPHA:231214
HP:0025409	Abnormal spleen physiology	83737	ITCH	OMIM:613385
HP:0025409	Abnormal spleen physiology	83737	ITCH	ORPHA:228426
HP:0025409	Abnormal spleen physiology	7289	TULP3	OMIM:619902
HP:0025409	Abnormal spleen physiology	3988	LIPA	OMIM:278000
HP:0025409	Abnormal spleen physiology	4851	NOTCH1	OMIM:616028
HP:0025409	Abnormal spleen physiology	199221	DZIP1L	ORPHA:731
HP:0025409	Abnormal spleen physiology	5314	PKHD1	ORPHA:731
HP:0025409	Abnormal spleen physiology	5660	PSAP	OMIM:610539
HP:0025409	Abnormal spleen physiology	950	SCARB2	ORPHA:77259
HP:0009770	Curved phalanges of the hand	4038	LRP4	ORPHA:3152
HP:0009770	Curved phalanges of the hand	50964	SOST	ORPHA:3152
HP:0009771	Osteolytic defects of the phalanges of the hand	1281	COL3A1	OMIM:130050
HP:0009771	Osteolytic defects of the phalanges of the hand	64135	IFIH1	OMIM:182250
HP:0009771	Osteolytic defects of the phalanges of the hand	54463	RETREG1	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	54463	RETREG1	OMIM:613115
HP:0009771	Osteolytic defects of the phalanges of the hand	65125	WNK1	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	6335	SCN9A	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	547	KIF1A	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	1075	CTSC	OMIM:245010
HP:0009771	Osteolytic defects of the phalanges of the hand	4921	DDR2	OMIM:618175
HP:0009771	Osteolytic defects of the phalanges of the hand	23586	RIGI	OMIM:616298
HP:0009771	Osteolytic defects of the phalanges of the hand	25923	ATL3	OMIM:615632
HP:0009771	Osteolytic defects of the phalanges of the hand	427	ASAH1	OMIM:228000
HP:0009771	Osteolytic defects of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0009771	Osteolytic defects of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0009771	Osteolytic defects of the phalanges of the hand	4853	NOTCH2	OMIM:102500
HP:0009771	Osteolytic defects of the phalanges of the hand	3248	HPGD	OMIM:259100
HP:0009771	Osteolytic defects of the phalanges of the hand	1513	CTSK	ORPHA:763
HP:0009771	Osteolytic defects of the phalanges of the hand	1513	CTSK	OMIM:265800
HP:0009771	Osteolytic defects of the phalanges of the hand	4000	LMNA	ORPHA:740
HP:0009771	Osteolytic defects of the phalanges of the hand	4000	LMNA	OMIM:248370
HP:0009771	Osteolytic defects of the phalanges of the hand	4000	LMNA	ORPHA:90153
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	ORPHA:740
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	OMIM:608612
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	OMIM:275210
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009771	Osteolytic defects of the phalanges of the hand	8815	BANF1	OMIM:614008
HP:0009771	Osteolytic defects of the phalanges of the hand	10651	MTX2	ORPHA:90153
HP:0009771	Osteolytic defects of the phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0009775	Amniotic constriction ring	51371	POMP	OMIM:601952
HP:0009775	Amniotic constriction ring	2706	GJB2	ORPHA:494
HP:0009775	Amniotic constriction ring	2706	GJB2	OMIM:124500
HP:0009775	Amniotic constriction ring	8626	TP63	ORPHA:1072
HP:0009775	Amniotic constriction ring	162514	TRPV3	OMIM:614594
HP:0009775	Amniotic constriction ring	25959	KANK2	OMIM:616099
HP:0009775	Amniotic constriction ring	2733	GLE1	ORPHA:1486
HP:0009775	Amniotic constriction ring	55612	FERMT1	OMIM:173650
HP:0009775	Amniotic constriction ring	3848	KRT1	OMIM:146590
HP:0009775	Amniotic constriction ring	56916	SMARCAD1	ORPHA:1658
HP:0009775	Amniotic constriction ring	2697	GJA1	ORPHA:1010
HP:0009775	Amniotic constriction ring	4014	LORICRIN	ORPHA:79395
HP:0009776	Adactyly	4750	NEK1	ORPHA:2751
HP:0009779	3-4 toe syndactyly	92002	CCNQ	OMIM:300707
HP:0009779	3-4 toe syndactyly	1001	CDH3	OMIM:225280
HP:0009779	3-4 toe syndactyly	387	RHOA	OMIM:618727
HP:0009779	3-4 toe syndactyly	6299	SALL1	OMIM:107480
HP:0009779	3-4 toe syndactyly	3239	HOXD13	OMIM:186300
HP:0009779	3-4 toe syndactyly	2697	GJA1	OMIM:164200
HP:0009779	3-4 toe syndactyly	6608	SMO	OMIM:601707
HP:0025416	Vaginal stricture	1294	COL7A1	ORPHA:79409
HP:0025419	Pulmonary pneumatocele	3572	IL6ST	OMIM:619752
HP:0009780	Iliac horns	4010	LMX1B	ORPHA:2614
HP:0009780	Iliac horns	4010	LMX1B	OMIM:161200
HP:0009781	Lester's sign	4010	LMX1B	ORPHA:2614
HP:0009781	Lester's sign	4010	LMX1B	OMIM:161200
HP:0009782	Aplasia/Hypoplasia of the biceps	4010	LMX1B	OMIM:161200
HP:0009783	Biceps aplasia	4010	LMX1B	OMIM:161200
HP:0009784	Aplasia/Hypoplasia of the triceps	4010	LMX1B	OMIM:161200
HP:0009785	Triceps aplasia	4010	LMX1B	OMIM:161200
HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	4010	LMX1B	OMIM:161200
HP:0009787	Aplasia/Hypoplasia of the quadriceps	4010	LMX1B	OMIM:161200
HP:0009788	Quadriceps aplasia	4010	LMX1B	OMIM:161200
HP:0009789	Perianal abscess	2000	ELF4	OMIM:301074
HP:0009789	Perianal abscess	7040	TGFB1	OMIM:618213
HP:0009789	Perianal abscess	79415	CYBC1	OMIM:618935
HP:0009789	Perianal abscess	92579	G6PC3	OMIM:612541
HP:0009789	Perianal abscess	3587	IL10RA	OMIM:613148
HP:0009789	Perianal abscess	22806	IKZF3	OMIM:619437
HP:0009789	Perianal abscess	3588	IL10RB	OMIM:612567
HP:0009789	Perianal abscess	8737	RIPK1	OMIM:618108
HP:0009789	Perianal abscess	3110	MNX1	OMIM:176450
HP:0009789	Perianal abscess	1991	ELANE	ORPHA:2686
HP:0025420	Diffuse alveolar hemorrhage	1281	COL3A1	OMIM:130050
HP:0025420	Diffuse alveolar hemorrhage	6774	STAT3	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5371	PML	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5914	RARA	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	359948	IRF2BP2	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	81608	FIP1L1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	4869	NPM1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5573	PRKAR1A	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	54880	BCOR	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	64859	NABP1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	6777	STAT5B	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	4926	NUMA1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	7704	ZBTB16	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	79718	TBL1XR1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	58484	NLRC4	OMIM:616050
HP:0025420	Diffuse alveolar hemorrhage	440275	EIF2AK4	ORPHA:199241
HP:0025420	Diffuse alveolar hemorrhage	3162	HMOX1	OMIM:614034
HP:0025423	Abnormal larynx morphology	6134	RPL10	OMIM:300998
HP:0025423	Abnormal larynx morphology	6134	RPL10	ORPHA:459070
HP:0025423	Abnormal larynx morphology	6134	RPL10	ORPHA:435938
HP:0025423	Abnormal larynx morphology	5447	POR	OMIM:201750
HP:0025423	Abnormal larynx morphology	8493	PPM1D	OMIM:617450
HP:0025423	Abnormal larynx morphology	104	ADARB1	OMIM:618862
HP:0025423	Abnormal larynx morphology	6477	SIAH1	OMIM:619314
HP:0025423	Abnormal larynx morphology	8425	LTBP4	OMIM:613177
HP:0025423	Abnormal larynx morphology	6659	SOX4	OMIM:618506
HP:0025423	Abnormal larynx morphology	2972	BRF1	OMIM:616202
HP:0025423	Abnormal larynx morphology	2972	BRF1	ORPHA:444072
HP:0025423	Abnormal larynx morphology	9759	HDAC4	ORPHA:1001
HP:0025423	Abnormal larynx morphology	775	CACNA1C	OMIM:620029
HP:0025423	Abnormal larynx morphology	91461	PKDCC	OMIM:618821
HP:0025423	Abnormal larynx morphology	5894	RAF1	OMIM:611553
HP:0025423	Abnormal larynx morphology	4897	NRCAM	OMIM:619833
HP:0025423	Abnormal larynx morphology	7486	WRN	ORPHA:902
HP:0025423	Abnormal larynx morphology	10236	HNRNPR	OMIM:620073
HP:0025423	Abnormal larynx morphology	1303	COL12A1	ORPHA:536516
HP:0025423	Abnormal larynx morphology	6662	SOX9	ORPHA:140
HP:0025423	Abnormal larynx morphology	284058	KANSL1	ORPHA:363965
HP:0025423	Abnormal larynx morphology	284058	KANSL1	ORPHA:363958
HP:0025423	Abnormal larynx morphology	284058	KANSL1	OMIM:610443
HP:0025423	Abnormal larynx morphology	374879	ZNF699	OMIM:619488
HP:0025423	Abnormal larynx morphology	91179	SCARF2	OMIM:600920
HP:0025423	Abnormal larynx morphology	6857	SYT1	ORPHA:522077
HP:0025423	Abnormal larynx morphology	3020	H3-3A	OMIM:619720
HP:0025423	Abnormal larynx morphology	253959	RALGAPA1	OMIM:618797
HP:0025423	Abnormal larynx morphology	3021	H3-3B	OMIM:619721
HP:0025423	Abnormal larynx morphology	388015	RTL1	ORPHA:254528
HP:0025423	Abnormal larynx morphology	388015	RTL1	ORPHA:96334
HP:0025423	Abnormal larynx morphology	8788	DLK1	ORPHA:254528
HP:0025423	Abnormal larynx morphology	8788	DLK1	ORPHA:96334
HP:0025423	Abnormal larynx morphology	55384	MEG3	ORPHA:254528
HP:0025423	Abnormal larynx morphology	55384	MEG3	ORPHA:96334
HP:0025423	Abnormal larynx morphology	80816	ASXL3	OMIM:615485
HP:0025423	Abnormal larynx morphology	89910	UBE3B	OMIM:244450
HP:0025423	Abnormal larynx morphology	51506	UFC1	OMIM:618076
HP:0025423	Abnormal larynx morphology	27245	AHDC1	ORPHA:412069
HP:0025423	Abnormal larynx morphology	27245	AHDC1	OMIM:615829
HP:0025423	Abnormal larynx morphology	1841	DTYMK	OMIM:619847
HP:0025423	Abnormal larynx morphology	51341	ZBTB7A	OMIM:619769
HP:0025423	Abnormal larynx morphology	55636	CHD7	ORPHA:138
HP:0025423	Abnormal larynx morphology	9723	SEMA3E	ORPHA:138
HP:0025423	Abnormal larynx morphology	11128	POLR3A	ORPHA:3455
HP:0025423	Abnormal larynx morphology	4038	LRP4	ORPHA:3258
HP:0025423	Abnormal larynx morphology	324	APC	ORPHA:3258
HP:0025423	Abnormal larynx morphology	3417	IDH1	ORPHA:99646
HP:0025423	Abnormal larynx morphology	23314	SATB2	ORPHA:576283
HP:0025423	Abnormal larynx morphology	4784	NFIX	OMIM:602535
HP:0025423	Abnormal larynx morphology	2263	FGFR2	ORPHA:93260
HP:0025423	Abnormal larynx morphology	2263	FGFR2	ORPHA:93259
HP:0025423	Abnormal larynx morphology	54496	PRMT7	OMIM:617157
HP:0025423	Abnormal larynx morphology	54496	PRMT7	ORPHA:464288
HP:0025423	Abnormal larynx morphology	23522	KAT6B	OMIM:606170
HP:0025423	Abnormal larynx morphology	5116	PCNT	ORPHA:2637
HP:0025423	Abnormal larynx morphology	7994	KAT6A	ORPHA:457193
HP:0025423	Abnormal larynx morphology	2581	GALC	ORPHA:206436
HP:0025423	Abnormal larynx morphology	5660	PSAP	ORPHA:206436
HP:0025423	Abnormal larynx morphology	1312	COMT	ORPHA:567
HP:0025423	Abnormal larynx morphology	221037	JMJD1C	ORPHA:567
HP:0025423	Abnormal larynx morphology	2812	GP1BB	ORPHA:567
HP:0025423	Abnormal larynx morphology	6239	RREB1	ORPHA:567
HP:0025423	Abnormal larynx morphology	6899	TBX1	ORPHA:567
HP:0025423	Abnormal larynx morphology	7290	HIRA	ORPHA:567
HP:0025423	Abnormal larynx morphology	9632	SEC24C	ORPHA:567
HP:0025423	Abnormal larynx morphology	7353	UFD1	ORPHA:567
HP:0025423	Abnormal larynx morphology	421	ARVCF	ORPHA:567
HP:0025423	Abnormal larynx morphology	3778	KCNMA1	OMIM:618729
HP:0025423	Abnormal larynx morphology	26123	TCTN3	ORPHA:2753
HP:0025423	Abnormal larynx morphology	3339	HSPG2	ORPHA:800
HP:0025423	Abnormal larynx morphology	157680	VPS13B	OMIM:216550
HP:0025423	Abnormal larynx morphology	3239	HOXD13	ORPHA:887
HP:0025423	Abnormal larynx morphology	1513	CTSK	ORPHA:763
HP:0025423	Abnormal larynx morphology	529	ATP6V1E1	OMIM:617402
HP:0025423	Abnormal larynx morphology	4212	MEIS2	ORPHA:261190
HP:0025423	Abnormal larynx morphology	374654	KIF7	ORPHA:2189
HP:0025423	Abnormal larynx morphology	51053	GMNN	OMIM:616835
HP:0025423	Abnormal larynx morphology	3852	KRT5	ORPHA:79396
HP:0025423	Abnormal larynx morphology	3861	KRT14	ORPHA:79396
HP:0025423	Abnormal larynx morphology	4000	LMNA	ORPHA:79474
HP:0025423	Abnormal larynx morphology	23594	ORC6	OMIM:613803
HP:0025423	Abnormal larynx morphology	26040	SETBP1	ORPHA:798
HP:0025423	Abnormal larynx morphology	3909	LAMA3	ORPHA:79404
HP:0025423	Abnormal larynx morphology	3918	LAMC2	ORPHA:79404
HP:0025423	Abnormal larynx morphology	3914	LAMB3	ORPHA:79404
HP:0025423	Abnormal larynx morphology	3835	KIF22	ORPHA:93360
HP:0025423	Abnormal larynx morphology	55612	FERMT1	ORPHA:2908
HP:0025423	Abnormal larynx morphology	2317	FLNB	ORPHA:1190
HP:0025423	Abnormal larynx morphology	2317	FLNB	OMIM:108720
HP:0025423	Abnormal larynx morphology	65992	DDRGK1	ORPHA:93352
HP:0025423	Abnormal larynx morphology	389827	MYMK	ORPHA:1358
HP:0025423	Abnormal larynx morphology	101929726	MYMX	ORPHA:1358
HP:0025423	Abnormal larynx morphology	27125	AFF4	ORPHA:444077
HP:0025423	Abnormal larynx morphology	6926	TBX3	OMIM:181450
HP:0025423	Abnormal larynx morphology	341640	FREM2	ORPHA:2052
HP:0025423	Abnormal larynx morphology	23426	GRIP1	ORPHA:2052
HP:0025423	Abnormal larynx morphology	1062	CENPE	OMIM:616051
HP:0025423	Abnormal larynx morphology	79631	EFL1	OMIM:617941
HP:0025423	Abnormal larynx morphology	6885	MAP3K7	OMIM:617137
HP:0025423	Abnormal larynx morphology	6885	MAP3K7	ORPHA:1826
HP:0025423	Abnormal larynx morphology	4087	SMAD2	OMIM:619657
HP:0025423	Abnormal larynx morphology	79753	SNIP1	OMIM:614501
HP:0025423	Abnormal larynx morphology	2316	FLNA	ORPHA:1826
HP:0025423	Abnormal larynx morphology	4796	TONSL	ORPHA:93357
HP:0025423	Abnormal larynx morphology	4796	TONSL	OMIM:271510
HP:0025423	Abnormal larynx morphology	51199	NIN	ORPHA:319675
HP:0025423	Abnormal larynx morphology	4054	LTBP3	OMIM:617809
HP:0025423	Abnormal larynx morphology	2137	EXTL3	ORPHA:508533
HP:0025423	Abnormal larynx morphology	4089	SMAD4	OMIM:139210
HP:0025423	Abnormal larynx morphology	2261	FGFR3	ORPHA:2363
HP:0025423	Abnormal larynx morphology	2255	FGF10	ORPHA:2363
HP:0025423	Abnormal larynx morphology	4750	NEK1	ORPHA:2751
HP:0025423	Abnormal larynx morphology	4750	NEK1	OMIM:263520
HP:0025423	Abnormal larynx morphology	139285	AMER1	OMIM:300373
HP:0025423	Abnormal larynx morphology	4519	MT-CYB	ORPHA:137675
HP:0025423	Abnormal larynx morphology	23498	HAAO	OMIM:617660
HP:0025423	Abnormal larynx morphology	80144	FRAS1	OMIM:219000
HP:0025423	Abnormal larynx morphology	4256	MGP	OMIM:245150
HP:0025423	Abnormal larynx morphology	3845	KRAS	ORPHA:3339
HP:0025423	Abnormal larynx morphology	22858	CILK1	OMIM:612651
HP:0025423	Abnormal larynx morphology	27152	INTU	OMIM:617925
HP:0025423	Abnormal larynx morphology	5396	PRRX1	OMIM:202650
HP:0025423	Abnormal larynx morphology	10262	SF3B4	OMIM:154400
HP:0025423	Abnormal larynx morphology	219844	HYLS1	OMIM:236680
HP:0025423	Abnormal larynx morphology	2187	FANCB	OMIM:314390
HP:0025423	Abnormal larynx morphology	7547	ZIC3	OMIM:314390
HP:0025423	Abnormal larynx morphology	4281	MID1	ORPHA:2745
HP:0025423	Abnormal larynx morphology	4281	MID1	OMIM:300000
HP:0025423	Abnormal larynx morphology	6650	CAPN15	OMIM:619318
HP:0025423	Abnormal larynx morphology	1906	EDN1	OMIM:615706
HP:0025423	Abnormal larynx morphology	55294	FBXW7	OMIM:620012
HP:0025423	Abnormal larynx morphology	55023	PHIP	OMIM:617991
HP:0025423	Abnormal larynx morphology	6711	SPTBN1	OMIM:619475
HP:0025423	Abnormal larynx morphology	1387	CREBBP	ORPHA:353277
HP:0025423	Abnormal larynx morphology	1836	SLC26A2	ORPHA:56304
HP:0025423	Abnormal larynx morphology	2033	EP300	ORPHA:353284
HP:0025423	Abnormal larynx morphology	26005	C2CD3	OMIM:615948
HP:0025423	Abnormal larynx morphology	26005	C2CD3	ORPHA:434179
HP:0025423	Abnormal larynx morphology	51626	DYNC2LI1	OMIM:617088
HP:0025423	Abnormal larynx morphology	9775	EIF4A3	OMIM:268305
HP:0025423	Abnormal larynx morphology	3930	LBR	OMIM:215140
HP:0025423	Abnormal larynx morphology	415	ARSL	ORPHA:79345
HP:0025423	Abnormal larynx morphology	5745	PTH1R	OMIM:215045
HP:0025423	Abnormal larynx morphology	9782	MATR3	OMIM:606070
HP:0025423	Abnormal larynx morphology	9782	MATR3	ORPHA:600
HP:0025423	Abnormal larynx morphology	29967	LRP12	OMIM:164310
HP:0025423	Abnormal larynx morphology	10755	GIPC1	ORPHA:98897
HP:0025423	Abnormal larynx morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0025423	Abnormal larynx morphology	2737	GLI3	ORPHA:672
HP:0025423	Abnormal larynx morphology	2737	GLI3	OMIM:146510
HP:0025423	Abnormal larynx morphology	55112	DYNC2I1	ORPHA:93271
HP:0025423	Abnormal larynx morphology	57560	IFT80	ORPHA:93271
HP:0025423	Abnormal larynx morphology	57539	WDR35	ORPHA:93271
HP:0025423	Abnormal larynx morphology	79659	DYNC2H1	ORPHA:93271
HP:0025423	Abnormal larynx morphology	89891	DYNC2I2	ORPHA:93271
HP:0025423	Abnormal larynx morphology	2304	FOXE1	OMIM:241850
HP:0025423	Abnormal larynx morphology	7512	XPNPEP2	ORPHA:100057
HP:0025423	Abnormal larynx morphology	5340	PLG	OMIM:619360
HP:0025423	Abnormal larynx morphology	710	SERPING1	ORPHA:100050
HP:0025423	Abnormal larynx morphology	710	SERPING1	OMIM:106100
HP:0025423	Abnormal larynx morphology	64711	HS3ST6	OMIM:619367
HP:0025423	Abnormal larynx morphology	2050	EPHB4	ORPHA:90186
HP:0025423	Abnormal larynx morphology	427	ASAH1	ORPHA:333
HP:0025423	Abnormal larynx morphology	22827	PUF60	ORPHA:508488
HP:0025424	Abnormal larynx physiology	2972	BRF1	OMIM:616202
HP:0025424	Abnormal larynx physiology	2972	BRF1	ORPHA:444072
HP:0025424	Abnormal larynx physiology	427	ASAH1	ORPHA:333
HP:0025424	Abnormal larynx physiology	5354	PLP1	ORPHA:280210
HP:0025424	Abnormal larynx physiology	686	BTD	ORPHA:79241
HP:0025424	Abnormal larynx physiology	89910	UBE3B	OMIM:244450
HP:0025424	Abnormal larynx physiology	6872	TAF1	ORPHA:53351
HP:0025424	Abnormal larynx physiology	846	CASR	OMIM:601198
HP:0025424	Abnormal larynx physiology	6329	SCN4A	OMIM:608390
HP:0025424	Abnormal larynx physiology	6329	SCN4A	ORPHA:99734
HP:0025424	Abnormal larynx physiology	7259	TSPYL1	OMIM:608800
HP:0025424	Abnormal larynx physiology	25978	CHMP2B	ORPHA:803
HP:0025424	Abnormal larynx physiology	3178	HNRNPA1	ORPHA:803
HP:0025424	Abnormal larynx physiology	8148	TAF15	ORPHA:803
HP:0025424	Abnormal larynx physiology	5445	PON2	ORPHA:803
HP:0025424	Abnormal larynx physiology	9217	VAPB	ORPHA:803
HP:0025424	Abnormal larynx physiology	8878	SQSTM1	ORPHA:803
HP:0025424	Abnormal larynx physiology	5630	PRPH	ORPHA:803
HP:0025424	Abnormal larynx physiology	29110	TBK1	ORPHA:803
HP:0025424	Abnormal larynx physiology	55830	GLT8D1	ORPHA:803
HP:0025424	Abnormal larynx physiology	755	CFAP410	ORPHA:803
HP:0025424	Abnormal larynx physiology	10891	PPARGC1A	ORPHA:803
HP:0025424	Abnormal larynx physiology	6647	SOD1	ORPHA:803
HP:0025424	Abnormal larynx physiology	10133	OPTN	ORPHA:803
HP:0025424	Abnormal larynx physiology	1639	DCTN1	ORPHA:803
HP:0025424	Abnormal larynx physiology	9896	FIG4	ORPHA:803
HP:0025424	Abnormal larynx physiology	5444	PON1	ORPHA:803
HP:0025424	Abnormal larynx physiology	5446	PON3	ORPHA:803
HP:0025424	Abnormal larynx physiology	4744	NEFH	ORPHA:803
HP:0025424	Abnormal larynx physiology	5216	PFN1	ORPHA:803
HP:0025424	Abnormal larynx physiology	9782	MATR3	ORPHA:803
HP:0025424	Abnormal larynx physiology	54209	TREM2	ORPHA:803
HP:0025424	Abnormal larynx physiology	7415	VCP	ORPHA:803
HP:0025424	Abnormal larynx physiology	283	ANG	ORPHA:803
HP:0025424	Abnormal larynx physiology	23435	TARDBP	ORPHA:803
HP:0025424	Abnormal larynx physiology	29978	UBQLN2	ORPHA:803
HP:0025424	Abnormal larynx physiology	2733	GLE1	ORPHA:803
HP:0025424	Abnormal larynx physiology	2521	FUS	ORPHA:803
HP:0025424	Abnormal larynx physiology	4750	NEK1	ORPHA:803
HP:0025424	Abnormal larynx physiology	2043	EPHA4	ORPHA:803
HP:0025424	Abnormal larynx physiology	6311	ATXN2	ORPHA:803
HP:0025424	Abnormal larynx physiology	1610	DAO	ORPHA:803
HP:0025424	Abnormal larynx physiology	2066	ERBB4	ORPHA:803
HP:0025424	Abnormal larynx physiology	311	ANXA11	ORPHA:803
HP:0025424	Abnormal larynx physiology	23025	UNC13A	ORPHA:803
HP:0025424	Abnormal larynx physiology	899	CCNF	ORPHA:803
HP:0025424	Abnormal larynx physiology	400916	CHCHD10	ORPHA:803
HP:0025424	Abnormal larynx physiology	27286	SRPX2	ORPHA:1945
HP:0025424	Abnormal larynx physiology	2903	GRIN2A	ORPHA:1945
HP:0025424	Abnormal larynx physiology	2566	GABRG2	ORPHA:1945
HP:0025425	Laryngospasm	846	CASR	OMIM:601198
HP:0025425	Laryngospasm	6329	SCN4A	OMIM:608390
HP:0025425	Laryngospasm	6329	SCN4A	ORPHA:99734
HP:0025425	Laryngospasm	7259	TSPYL1	OMIM:608800
HP:0025425	Laryngospasm	25978	CHMP2B	ORPHA:803
HP:0025425	Laryngospasm	3178	HNRNPA1	ORPHA:803
HP:0025425	Laryngospasm	8148	TAF15	ORPHA:803
HP:0025425	Laryngospasm	5445	PON2	ORPHA:803
HP:0025425	Laryngospasm	9217	VAPB	ORPHA:803
HP:0025425	Laryngospasm	8878	SQSTM1	ORPHA:803
HP:0025425	Laryngospasm	5630	PRPH	ORPHA:803
HP:0025425	Laryngospasm	29110	TBK1	ORPHA:803
HP:0025425	Laryngospasm	55830	GLT8D1	ORPHA:803
HP:0025425	Laryngospasm	755	CFAP410	ORPHA:803
HP:0025425	Laryngospasm	10891	PPARGC1A	ORPHA:803
HP:0025425	Laryngospasm	6647	SOD1	ORPHA:803
HP:0025425	Laryngospasm	10133	OPTN	ORPHA:803
HP:0025425	Laryngospasm	1639	DCTN1	ORPHA:803
HP:0025425	Laryngospasm	9896	FIG4	ORPHA:803
HP:0025425	Laryngospasm	5444	PON1	ORPHA:803
HP:0025425	Laryngospasm	5446	PON3	ORPHA:803
HP:0025425	Laryngospasm	4744	NEFH	ORPHA:803
HP:0025425	Laryngospasm	5216	PFN1	ORPHA:803
HP:0025425	Laryngospasm	9782	MATR3	ORPHA:803
HP:0025425	Laryngospasm	54209	TREM2	ORPHA:803
HP:0025425	Laryngospasm	7415	VCP	ORPHA:803
HP:0025425	Laryngospasm	283	ANG	ORPHA:803
HP:0025425	Laryngospasm	23435	TARDBP	ORPHA:803
HP:0025425	Laryngospasm	29978	UBQLN2	ORPHA:803
HP:0025425	Laryngospasm	2733	GLE1	ORPHA:803
HP:0025425	Laryngospasm	2521	FUS	ORPHA:803
HP:0025425	Laryngospasm	4750	NEK1	ORPHA:803
HP:0025425	Laryngospasm	2043	EPHA4	ORPHA:803
HP:0025425	Laryngospasm	6311	ATXN2	ORPHA:803
HP:0025425	Laryngospasm	1610	DAO	ORPHA:803
HP:0025425	Laryngospasm	2066	ERBB4	ORPHA:803
HP:0025425	Laryngospasm	311	ANXA11	ORPHA:803
HP:0025425	Laryngospasm	23025	UNC13A	ORPHA:803
HP:0025425	Laryngospasm	899	CCNF	ORPHA:803
HP:0025425	Laryngospasm	400916	CHCHD10	ORPHA:803
HP:0025425	Laryngospasm	27286	SRPX2	ORPHA:1945
HP:0025425	Laryngospasm	2903	GRIN2A	ORPHA:1945
HP:0025425	Laryngospasm	2566	GABRG2	ORPHA:1945
HP:0025427	Abnormal bronchus physiology	3459	IFNGR1	OMIM:209950
HP:0025427	Abnormal bronchus physiology	1616	DAXX	ORPHA:100075
HP:0025427	Abnormal bronchus physiology	546	ATRX	ORPHA:100075
HP:0025427	Abnormal bronchus physiology	7259	TSPYL1	OMIM:608800
HP:0025427	Abnormal bronchus physiology	6392	SDHD	ORPHA:100093
HP:0025427	Abnormal bronchus physiology	404672	GTF2H5	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	833	CARS1	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2068	ERCC2	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	7737	RNF113A	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	136647	MPLKIP	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	6897	TARS1	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2071	ERCC3	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2961	GTF2E2	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	176	ACAN	OMIM:612813
HP:0025427	Abnormal bronchus physiology	2588	GALNS	OMIM:253000
HP:0025427	Abnormal bronchus physiology	154	ADRB2	OMIM:600807
HP:0025427	Abnormal bronchus physiology	240	ALOX5	OMIM:600807
HP:0025427	Abnormal bronchus physiology	7941	PLA2G7	OMIM:600807
HP:0025427	Abnormal bronchus physiology	6356	CCL11	OMIM:600807
HP:0025427	Abnormal bronchus physiology	7124	TNF	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3176	HNMT	OMIM:600807
HP:0025427	Abnormal bronchus physiology	4589	MUC7	OMIM:600807
HP:0025427	Abnormal bronchus physiology	117156	SCGB3A2	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3135	HLA-G	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3596	IL13	OMIM:600807
HP:0025427	Abnormal bronchus physiology	30009	TBX21	OMIM:208550
HP:0025427	Abnormal bronchus physiology	5732	PTGER2	OMIM:208550
HP:0025428	Bronchospasm	1616	DAXX	ORPHA:100075
HP:0025428	Bronchospasm	546	ATRX	ORPHA:100075
HP:0025428	Bronchospasm	7259	TSPYL1	OMIM:608800
HP:0025428	Bronchospasm	6392	SDHD	ORPHA:100093
HP:0025428	Bronchospasm	404672	GTF2H5	ORPHA:33364
HP:0025428	Bronchospasm	833	CARS1	ORPHA:33364
HP:0025428	Bronchospasm	2068	ERCC2	ORPHA:33364
HP:0025428	Bronchospasm	7737	RNF113A	ORPHA:33364
HP:0025428	Bronchospasm	136647	MPLKIP	ORPHA:33364
HP:0025428	Bronchospasm	6897	TARS1	ORPHA:33364
HP:0025428	Bronchospasm	2071	ERCC3	ORPHA:33364
HP:0025428	Bronchospasm	2961	GTF2E2	ORPHA:33364
HP:0025428	Bronchospasm	176	ACAN	OMIM:612813
HP:0025429	Abnormal cry	2218	FKTN	ORPHA:272
HP:0025429	Abnormal cry	2673	GFPT1	OMIM:608931
HP:0025429	Abnormal cry	1145	CHRNE	OMIM:608931
HP:0025429	Abnormal cry	1145	CHRNE	OMIM:605809
HP:0025429	Abnormal cry	4728	NDUFS8	OMIM:618222
HP:0025429	Abnormal cry	5913	RAPSN	OMIM:618388
HP:0025429	Abnormal cry	5913	RAPSN	OMIM:616326
HP:0025429	Abnormal cry	1144	CHRND	OMIM:616322
HP:0025429	Abnormal cry	57128	LYRM4	OMIM:615595
HP:0025429	Abnormal cry	5393	EXOSC9	OMIM:618065
HP:0025429	Abnormal cry	1103	CHAT	OMIM:254210
HP:0025429	Abnormal cry	1103	CHAT	ORPHA:98914
HP:0025429	Abnormal cry	9453	GGPS1	OMIM:619518
HP:0025429	Abnormal cry	1134	CHRNA1	OMIM:608930
HP:0025429	Abnormal cry	546	ATRX	OMIM:301040
HP:0025429	Abnormal cry	3909	LAMA3	OMIM:245660
HP:0025429	Abnormal cry	4976	OPA1	OMIM:616896
HP:0025429	Abnormal cry	6492	SIM1	ORPHA:398079
HP:0025429	Abnormal cry	60482	SLC5A7	ORPHA:98914
HP:0025429	Abnormal cry	4649	MYO9A	ORPHA:98914
HP:0025429	Abnormal cry	1305	COL13A1	ORPHA:98914
HP:0025429	Abnormal cry	6576	SLC25A1	ORPHA:98914
HP:0025429	Abnormal cry	6843	VAMP1	ORPHA:98914
HP:0025429	Abnormal cry	375790	AGRN	ORPHA:98914
HP:0025429	Abnormal cry	127833	SYT2	ORPHA:98914
HP:0025429	Abnormal cry	127833	SYT2	OMIM:619461
HP:0025429	Abnormal cry	6572	SLC18A3	ORPHA:98914
HP:0025429	Abnormal cry	6616	SNAP25	ORPHA:98914
HP:0025429	Abnormal cry	8292	COLQ	ORPHA:98915
HP:0025429	Abnormal cry	8292	COLQ	OMIM:603034
HP:0025429	Abnormal cry	3913	LAMB2	ORPHA:98915
HP:0025429	Abnormal cry	9200	HACD1	OMIM:619967
HP:0025429	Abnormal cry	3508	IGHMBP2	OMIM:604320
HP:0025429	Abnormal cry	443	ASPA	ORPHA:314911
HP:0025429	Abnormal cry	1410	CRYAB	OMIM:613869
HP:0025429	Abnormal cry	3908	LAMA2	ORPHA:258
HP:0025429	Abnormal cry	79068	FTO	OMIM:612938
HP:0025429	Abnormal cry	427	ASAH1	ORPHA:333
HP:0025429	Abnormal cry	79989	IFT56	OMIM:619534
HP:0025429	Abnormal cry	25836	NIPBL	OMIM:122470
HP:0025429	Abnormal cry	54551	MAGEL2	ORPHA:398069
HP:0025429	Abnormal cry	54551	MAGEL2	OMIM:615547
HP:0025429	Abnormal cry	5824	PEX19	OMIM:614886
HP:0025429	Abnormal cry	6261	RYR1	ORPHA:324581
HP:0025429	Abnormal cry	129285	PPP1R21	OMIM:619383
HP:0025429	Abnormal cry	7317	UBA1	OMIM:301830
HP:0025429	Abnormal cry	7170	TPM3	OMIM:255310
HP:0025429	Abnormal cry	57017	COQ9	OMIM:614654
HP:0025429	Abnormal cry	80199	FUZ	ORPHA:1136
HP:0025429	Abnormal cry	7407	VARS1	OMIM:617802
HP:0025429	Abnormal cry	6638	SNRPN	ORPHA:177907
HP:0025429	Abnormal cry	9325	TRIP4	ORPHA:486815
HP:0025429	Abnormal cry	8085	KMT2D	OMIM:147920
HP:0025429	Abnormal cry	7403	KDM6A	OMIM:147920
HP:0025429	Abnormal cry	374879	ZNF699	OMIM:619488
HP:0025429	Abnormal cry	7253	TSHR	ORPHA:90673
HP:0025429	Abnormal cry	9896	FIG4	OMIM:216340
HP:0025429	Abnormal cry	478	ATP1A3	OMIM:619606
HP:0025429	Abnormal cry	55163	PNPO	ORPHA:79096
HP:0025429	Abnormal cry	498	ATP5F1A	OMIM:615228
HP:0025429	Abnormal cry	249	ALPL	OMIM:241500
HP:0025429	Abnormal cry	18	ABAT	OMIM:613163
HP:0025429	Abnormal cry	4204	MECP2	ORPHA:778
HP:0025429	Abnormal cry	7259	TSPYL1	OMIM:608800
HP:0025429	Abnormal cry	1501	CTNND2	ORPHA:281
HP:0025429	Abnormal cry	9037	SEMA5A	ORPHA:281
HP:0025429	Abnormal cry	157680	VPS13B	ORPHA:193
HP:0009790	Hemisacrum	81839	VANGL1	OMIM:600145
HP:0009790	Hemisacrum	3110	MNX1	OMIM:176450
HP:0009791	Bifid sacrum	3110	MNX1	OMIM:176450
HP:0009792	Teratoma	6794	STK11	OMIM:273300
HP:0009792	Teratoma	8915	BCL10	OMIM:273300
HP:0009792	Teratoma	3815	KIT	OMIM:273300
HP:0009792	Teratoma	2261	FGFR3	OMIM:273300
HP:0009792	Teratoma	4437	MSH3	ORPHA:480536
HP:0009792	Teratoma	5573	PRKAR1A	ORPHA:1359
HP:0009792	Teratoma	50940	PDE11A	ORPHA:1359
HP:0009792	Teratoma	3110	MNX1	ORPHA:1552
HP:0009792	Teratoma	26040	SETBP1	OMIM:269150
HP:0009792	Teratoma	26040	SETBP1	ORPHA:798
HP:0009792	Teratoma	64324	NSD1	ORPHA:821
HP:0009792	Teratoma	29072	SETD2	ORPHA:821
HP:0009792	Teratoma	10297	APC2	ORPHA:821
HP:0009793	Presacral teratoma	3110	MNX1	OMIM:176450
HP:0009794	Branchial anomaly	3190	HNRNPK	ORPHA:453504
HP:0009794	Branchial anomaly	3190	HNRNPK	ORPHA:352665
HP:0009794	Branchial anomaly	7020	TFAP2A	OMIM:113620
HP:0009794	Branchial anomaly	10992	SF3B2	OMIM:164210
HP:0009794	Branchial anomaly	51322	WAC	ORPHA:466950
HP:0009794	Branchial anomaly	84172	POLR1B	ORPHA:861
HP:0009794	Branchial anomaly	9533	POLR1C	ORPHA:861
HP:0009794	Branchial anomaly	51082	POLR1D	ORPHA:861
HP:0009794	Branchial anomaly	6949	TCOF1	ORPHA:861
HP:0009794	Branchial anomaly	2138	EYA1	OMIM:602588
HP:0009794	Branchial anomaly	2138	EYA1	ORPHA:52429
HP:0009794	Branchial anomaly	2138	EYA1	OMIM:113650
HP:0009794	Branchial anomaly	25942	SIN3A	OMIM:613406
HP:0009794	Branchial anomaly	6495	SIX1	ORPHA:52429
HP:0009794	Branchial anomaly	6495	SIX1	OMIM:113650
HP:0009794	Branchial anomaly	613	BCR	ORPHA:261330
HP:0009794	Branchial anomaly	1399	CRKL	ORPHA:261330
HP:0009794	Branchial anomaly	5594	MAPK1	ORPHA:261330
HP:0009794	Branchial anomaly	22827	PUF60	ORPHA:508488
HP:0009794	Branchial anomaly	22827	PUF60	OMIM:615583
HP:0009794	Branchial anomaly	6134	RPL10	ORPHA:435938
HP:0009794	Branchial anomaly	8085	KMT2D	OMIM:620186
HP:0009794	Branchial anomaly	147912	SIX5	ORPHA:107
HP:0009795	Branchial fistula	84172	POLR1B	ORPHA:861
HP:0009795	Branchial fistula	9533	POLR1C	ORPHA:861
HP:0009795	Branchial fistula	51082	POLR1D	ORPHA:861
HP:0009795	Branchial fistula	6949	TCOF1	ORPHA:861
HP:0009795	Branchial fistula	2138	EYA1	OMIM:602588
HP:0009795	Branchial fistula	2138	EYA1	ORPHA:52429
HP:0009795	Branchial fistula	2138	EYA1	OMIM:113650
HP:0009795	Branchial fistula	25942	SIN3A	OMIM:613406
HP:0009795	Branchial fistula	6495	SIX1	ORPHA:52429
HP:0009795	Branchial fistula	6495	SIX1	OMIM:113650
HP:0009795	Branchial fistula	613	BCR	ORPHA:261330
HP:0009795	Branchial fistula	1399	CRKL	ORPHA:261330
HP:0009795	Branchial fistula	5594	MAPK1	ORPHA:261330
HP:0009796	Branchial cyst	22827	PUF60	ORPHA:508488
HP:0009796	Branchial cyst	22827	PUF60	OMIM:615583
HP:0009796	Branchial cyst	6134	RPL10	ORPHA:435938
HP:0009796	Branchial cyst	6495	SIX1	OMIM:608389
HP:0009796	Branchial cyst	6495	SIX1	OMIM:113650
HP:0009796	Branchial cyst	6495	SIX1	ORPHA:107
HP:0009796	Branchial cyst	8085	KMT2D	OMIM:620186
HP:0009796	Branchial cyst	2138	EYA1	OMIM:113650
HP:0009796	Branchial cyst	2138	EYA1	ORPHA:107
HP:0009796	Branchial cyst	147912	SIX5	ORPHA:107
HP:0009797	Cholesteatoma	6850	SYK	OMIM:619381
HP:0009797	Cholesteatoma	4784	NFIX	OMIM:602535
HP:0009797	Cholesteatoma	9382	COG1	OMIM:611209
HP:0009797	Cholesteatoma	7080	NKX2-1	OMIM:610978
HP:0009797	Cholesteatoma	2138	EYA1	OMIM:113650
HP:0009797	Cholesteatoma	6495	SIX1	OMIM:113650
HP:0009797	Cholesteatoma	4921	DDR2	OMIM:618175
HP:0009797	Cholesteatoma	54914	FOCAD	OMIM:619991
HP:0009797	Cholesteatoma	64324	NSD1	ORPHA:821
HP:0009797	Cholesteatoma	29072	SETD2	ORPHA:821
HP:0009797	Cholesteatoma	10297	APC2	ORPHA:821
HP:0009798	Euthyroid goiter	23405	DICER1	OMIM:138800
HP:0009798	Euthyroid goiter	5573	PRKAR1A	ORPHA:1359
HP:0009798	Euthyroid goiter	50940	PDE11A	ORPHA:1359
HP:0009798	Euthyroid goiter	2138	EYA1	OMIM:113650
HP:0009798	Euthyroid goiter	6495	SIX1	OMIM:113650
HP:0009799	Supernumerary spleens	745	MYRF	OMIM:618280
HP:0009799	Supernumerary spleens	157570	ESCO2	OMIM:268300
HP:0009799	Supernumerary spleens	84314	TMEM107	ORPHA:564
HP:0009799	Supernumerary spleens	26123	TCTN3	ORPHA:564
HP:0009799	Supernumerary spleens	79867	TCTN2	ORPHA:564
HP:0009799	Supernumerary spleens	80776	B9D2	ORPHA:564
HP:0009799	Supernumerary spleens	79600	TCTN1	ORPHA:564
HP:0009799	Supernumerary spleens	57096	RPGRIP1	ORPHA:564
HP:0009799	Supernumerary spleens	79848	CSPP1	ORPHA:564
HP:0009799	Supernumerary spleens	80184	CEP290	ORPHA:564
HP:0009799	Supernumerary spleens	51259	TMEM216	ORPHA:564
HP:0009799	Supernumerary spleens	57545	CC2D2A	ORPHA:564
HP:0009799	Supernumerary spleens	79583	TMEM231	ORPHA:564
HP:0009799	Supernumerary spleens	91147	TMEM67	ORPHA:564
HP:0009799	Supernumerary spleens	79770	TXNDC15	ORPHA:564
HP:0009799	Supernumerary spleens	27077	B9D1	ORPHA:564
HP:0009799	Supernumerary spleens	23322	RPGRIP1L	ORPHA:564
HP:0009799	Supernumerary spleens	54903	MKS1	ORPHA:564
HP:0009799	Supernumerary spleens	54903	MKS1	OMIM:249000
HP:0009799	Supernumerary spleens	65062	TMEM237	ORPHA:564
HP:0009799	Supernumerary spleens	7490	WT1	OMIM:608978
HP:0009799	Supernumerary spleens	537	ATP6AP1	OMIM:300972
HP:0009799	Supernumerary spleens	1387	CREBBP	OMIM:180849
HP:0009799	Supernumerary spleens	2033	EP300	OMIM:180849
HP:0009799	Supernumerary spleens	8425	LTBP4	OMIM:613177
HP:0009799	Supernumerary spleens	55012	PPP2R3C	OMIM:618419
HP:0009799	Supernumerary spleens	5557	PRIM1	OMIM:620005
HP:0009799	Supernumerary spleens	55770	EXOC2	OMIM:619306
HP:0009799	Supernumerary spleens	53834	FGFRL1	OMIM:194190
HP:0009799	Supernumerary spleens	1487	CTBP1	OMIM:194190
HP:0009799	Supernumerary spleens	3954	LETM1	OMIM:194190
HP:0009799	Supernumerary spleens	7468	NSD2	OMIM:194190
HP:0009799	Supernumerary spleens	10815	CPLX1	OMIM:194190
HP:0009799	Supernumerary spleens	1063	CENPF	OMIM:243605
HP:0009799	Supernumerary spleens	219844	HYLS1	OMIM:236680
HP:0009799	Supernumerary spleens	7547	ZIC3	OMIM:306955
HP:0009799	Supernumerary spleens	2239	GPC4	ORPHA:373
HP:0009799	Supernumerary spleens	2239	GPC4	OMIM:312870
HP:0009799	Supernumerary spleens	2719	GPC3	ORPHA:373
HP:0009799	Supernumerary spleens	2719	GPC3	OMIM:312870
HP:0009799	Supernumerary spleens	2657	GDF1	OMIM:208530
HP:0009799	Supernumerary spleens	8565	YARS1	OMIM:619418
HP:0009799	Supernumerary spleens	93	ACVR2B	OMIM:613751
HP:0009799	Supernumerary spleens	57539	WDR35	OMIM:613610
HP:0009799	Supernumerary spleens	50937	CDON	OMIM:614226
HP:0009799	Supernumerary spleens	118856	MMP21	OMIM:616749
HP:0009799	Supernumerary spleens	25981	DNAH1	ORPHA:244
HP:0009799	Supernumerary spleens	115948	ODAD3	ORPHA:244
HP:0009799	Supernumerary spleens	54768	HYDIN	ORPHA:244
HP:0009799	Supernumerary spleens	352909	DNAAF3	ORPHA:244
HP:0009799	Supernumerary spleens	27148	STK36	ORPHA:244
HP:0009799	Supernumerary spleens	51314	NME8	ORPHA:244
HP:0009799	Supernumerary spleens	92749	DRC1	ORPHA:244
HP:0009799	Supernumerary spleens	54970	TTC12	ORPHA:244
HP:0009799	Supernumerary spleens	152110	NEK10	ORPHA:244
HP:0009799	Supernumerary spleens	8481	OFD1	ORPHA:244
HP:0009799	Supernumerary spleens	2302	FOXJ1	ORPHA:244
HP:0009799	Supernumerary spleens	221421	RSPH9	ORPHA:244
HP:0009799	Supernumerary spleens	85478	CCDC65	ORPHA:244
HP:0009799	Supernumerary spleens	55036	CCDC40	ORPHA:244
HP:0009799	Supernumerary spleens	51364	ZMYND10	ORPHA:244
HP:0009799	Supernumerary spleens	64446	DNAI2	ORPHA:244
HP:0009799	Supernumerary spleens	6674	SPAG1	ORPHA:244
HP:0009799	Supernumerary spleens	83544	DNAL1	ORPHA:244
HP:0009799	Supernumerary spleens	89765	RSPH1	ORPHA:244
HP:0009799	Supernumerary spleens	83538	ODAD4	ORPHA:244
HP:0009799	Supernumerary spleens	200373	CFAP221	ORPHA:244
HP:0009799	Supernumerary spleens	374407	DNAJB13	ORPHA:244
HP:0009799	Supernumerary spleens	55172	DNAAF2	ORPHA:244
HP:0009799	Supernumerary spleens	161582	DNAAF4	ORPHA:244
HP:0009799	Supernumerary spleens	161582	DNAAF4	OMIM:615482
HP:0009799	Supernumerary spleens	2622	GAS8	ORPHA:244
HP:0009799	Supernumerary spleens	23639	DNAAF11	ORPHA:244
HP:0009799	Supernumerary spleens	27019	DNAI1	ORPHA:244
HP:0009799	Supernumerary spleens	345895	RSPH4A	ORPHA:244
HP:0009799	Supernumerary spleens	54919	DNAAF5	ORPHA:244
HP:0009799	Supernumerary spleens	6103	RPGR	ORPHA:244
HP:0009799	Supernumerary spleens	388389	CCDC103	ORPHA:244
HP:0009799	Supernumerary spleens	93233	ODAD1	ORPHA:244
HP:0009799	Supernumerary spleens	55130	ODAD2	ORPHA:244
HP:0009799	Supernumerary spleens	1767	DNAH5	ORPHA:244
HP:0009799	Supernumerary spleens	83861	RSPH3	ORPHA:244
HP:0009799	Supernumerary spleens	345643	MCIDAS	ORPHA:244
HP:0009799	Supernumerary spleens	56683	CFAP298	ORPHA:244
HP:0009799	Supernumerary spleens	79925	SPEF2	ORPHA:244
HP:0009799	Supernumerary spleens	10309	CCNO	ORPHA:244
HP:0009799	Supernumerary spleens	115399	LRRC56	ORPHA:244
HP:0009799	Supernumerary spleens	139212	DNAAF6	ORPHA:244
HP:0009799	Supernumerary spleens	123872	DNAAF1	ORPHA:244
HP:0009799	Supernumerary spleens	85016	CFAP300	ORPHA:244
HP:0009799	Supernumerary spleens	339829	CCDC39	ORPHA:244
HP:0009799	Supernumerary spleens	339829	CCDC39	OMIM:613807
HP:0009799	Supernumerary spleens	8701	DNAH11	ORPHA:244
HP:0009799	Supernumerary spleens	1770	DNAH9	ORPHA:244
HP:0009799	Supernumerary spleens	246176	GAS2L2	ORPHA:244
HP:0009799	Supernumerary spleens	51715	RAB23	OMIM:201000
HP:0009799	Supernumerary spleens	51715	RAB23	ORPHA:65759
HP:0009799	Supernumerary spleens	27031	NPHP3	OMIM:208540
HP:0009799	Supernumerary spleens	55159	RFWD3	OMIM:617784
HP:0009799	Supernumerary spleens	4613	MYCN	OMIM:164280
HP:0009799	Supernumerary spleens	25790	CFAP45	OMIM:619608
HP:0009799	Supernumerary spleens	1954	MEGF8	ORPHA:65759
HP:0009799	Supernumerary spleens	55997	CFC1	OMIM:605376
HP:0025430	High-pitched cry	9896	FIG4	OMIM:216340
HP:0025430	High-pitched cry	478	ATP1A3	OMIM:619606
HP:0025430	High-pitched cry	55163	PNPO	ORPHA:79096
HP:0025430	High-pitched cry	498	ATP5F1A	OMIM:615228
HP:0025430	High-pitched cry	249	ALPL	OMIM:241500
HP:0025430	High-pitched cry	18	ABAT	OMIM:613163
HP:0025430	High-pitched cry	4204	MECP2	ORPHA:778
HP:0025431	Staccato cry	7259	TSPYL1	OMIM:608800
HP:0025433	Decreased lecithin cholesterol acyl transferase level	3931	LCAT	OMIM:245900
HP:0025434	Reduced hemolytic complement activity	727	C5	OMIM:609536
HP:0025434	Reduced hemolytic complement activity	729	C6	OMIM:612446
HP:0025434	Reduced hemolytic complement activity	720	C4A	OMIM:614380
HP:0025434	Reduced hemolytic complement activity	710	SERPING1	OMIM:106100
HP:0025435	Increased circulating lactate dehydrogenase concentration	3043	HBB	ORPHA:232
HP:0025435	Increased circulating lactate dehydrogenase concentration	9056	SLC7A7	ORPHA:470
HP:0025435	Increased circulating lactate dehydrogenase concentration	4952	OCRL	OMIM:300555
HP:0025435	Increased circulating lactate dehydrogenase concentration	4952	OCRL	OMIM:309000
HP:0025435	Increased circulating lactate dehydrogenase concentration	10312	TCIRG1	OMIM:259700
HP:0025435	Increased circulating lactate dehydrogenase concentration	2548	GAA	OMIM:232300
HP:0025435	Increased circulating lactate dehydrogenase concentration	2548	GAA	ORPHA:308552
HP:0025435	Increased circulating lactate dehydrogenase concentration	5828	PEX2	OMIM:614866
HP:0025435	Increased circulating lactate dehydrogenase concentration	3123	HLA-DRB1	ORPHA:747
HP:0025435	Increased circulating lactate dehydrogenase concentration	811	CALR	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	4352	MPL	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	3717	JAK2	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	54790	TET2	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	6775	STAT4	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	6696	SPP1	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	3654	IRAK1	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	7157	TP53	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	5925	RB1	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	11200	CHEK2	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	79650	USB1	OMIM:604173
HP:0025435	Increased circulating lactate dehydrogenase concentration	6718	AKR1D1	ORPHA:79303
HP:0025435	Increased circulating lactate dehydrogenase concentration	5339	PLEC	ORPHA:254361
HP:0025435	Increased circulating lactate dehydrogenase concentration	4609	MYC	ORPHA:543
HP:0025435	Increased circulating lactate dehydrogenase concentration	23175	LPIN1	OMIM:268200
HP:0025435	Increased circulating lactate dehydrogenase concentration	23175	LPIN1	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	6573	SLC19A1	OMIM:601775
HP:0025435	Increased circulating lactate dehydrogenase concentration	4522	MTHFD1	OMIM:617780
HP:0025435	Increased circulating lactate dehydrogenase concentration	7504	XK	OMIM:300842
HP:0025435	Increased circulating lactate dehydrogenase concentration	57169	ZNFX1	OMIM:619644
HP:0025435	Increased circulating lactate dehydrogenase concentration	3162	HMOX1	OMIM:614034
HP:0025435	Increased circulating lactate dehydrogenase concentration	1376	CPT2	OMIM:600649
HP:0025435	Increased circulating lactate dehydrogenase concentration	6786	STIM1	OMIM:185070
HP:0025435	Increased circulating lactate dehydrogenase concentration	3075	CFH	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	3426	CFI	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	4179	CD46	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	101101692	HELLPAR	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	226	ALDOA	OMIM:611881
HP:0025435	Increased circulating lactate dehydrogenase concentration	10165	SLC25A13	ORPHA:247598
HP:0025435	Increased circulating lactate dehydrogenase concentration	10531	PITRM1	OMIM:619405
HP:0025435	Increased circulating lactate dehydrogenase concentration	5294	PIK3CG	OMIM:619802
HP:0025435	Increased circulating lactate dehydrogenase concentration	4512	MT-CO1	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	4514	MT-CO3	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	54888	NSUN2	OMIM:611091
HP:0025435	Increased circulating lactate dehydrogenase concentration	339855	KY	OMIM:617114
HP:0025435	Increased circulating lactate dehydrogenase concentration	9215	LARGE1	OMIM:613154
HP:0025435	Increased circulating lactate dehydrogenase concentration	2694	CBLIF	OMIM:261000
HP:0025435	Increased circulating lactate dehydrogenase concentration	6208	RPS14	ORPHA:86841
HP:0025435	Increased circulating lactate dehydrogenase concentration	10661	KLF1	OMIM:613673
HP:0025435	Increased circulating lactate dehydrogenase concentration	3988	LIPA	OMIM:278000
HP:0025435	Increased circulating lactate dehydrogenase concentration	57104	PNPLA2	ORPHA:98908
HP:0025435	Increased circulating lactate dehydrogenase concentration	859	CAV3	OMIM:614321
HP:0025435	Increased circulating lactate dehydrogenase concentration	5213	PFKM	OMIM:232800
HP:0025435	Increased circulating lactate dehydrogenase concentration	8398	PLA2G6	ORPHA:35069
HP:0025435	Increased circulating lactate dehydrogenase concentration	1719	DHFR	OMIM:613839
HP:0025435	Increased circulating lactate dehydrogenase concentration	6521	SLC4A1	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	9780	PIEZO1	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	3783	KCNN4	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	6005	RHAG	ORPHA:3203
HP:0025435	Increased circulating lactate dehydrogenase concentration	6005	RHAG	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	64241	ABCG8	OMIM:210250
HP:0025435	Increased circulating lactate dehydrogenase concentration	5277	PIGA	ORPHA:447
HP:0025435	Increased circulating lactate dehydrogenase concentration	1130	LYST	ORPHA:167
HP:0025435	Increased circulating lactate dehydrogenase concentration	3158	HMGCS2	OMIM:605911
HP:0025435	Increased circulating lactate dehydrogenase concentration	146059	CDAN1	OMIM:224120
HP:0025435	Increased circulating lactate dehydrogenase concentration	9131	AIFM1	OMIM:310490
HP:0025435	Increased circulating lactate dehydrogenase concentration	23230	VPS13A	ORPHA:2388
HP:0025435	Increased circulating lactate dehydrogenase concentration	4598	MVK	OMIM:610377
HP:0025435	Increased circulating lactate dehydrogenase concentration	90523	MLIP	OMIM:620138
HP:0025435	Increased circulating lactate dehydrogenase concentration	28976	ACAD9	ORPHA:99901
HP:0025435	Increased circulating lactate dehydrogenase concentration	9493	KIF23	OMIM:105600
HP:0025435	Increased circulating lactate dehydrogenase concentration	6006	RHCE	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	6007	RHD	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	2313	FLI1	ORPHA:370348
HP:0025436	Elevated serum 11-deoxycortisol	5447	POR	OMIM:201750
HP:0025436	Elevated serum 11-deoxycortisol	1585	CYP11B2	ORPHA:556030
HP:0025436	Elevated serum 11-deoxycortisol	1584	CYP11B1	OMIM:202010
HP:0025436	Elevated serum 11-deoxycortisol	84133	ZNRF3	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	7157	TP53	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	5573	PRKAR1A	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	1499	CTNNB1	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	1029	CDKN2A	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	7015	TERT	ORPHA:1501
HP:0025437	Macrocephalic sperm head	6795	AURKC	OMIM:243060
HP:0025437	Macrocephalic sperm head	89876	CFAP91	OMIM:619177
HP:0025439	Pharyngitis	10312	TCIRG1	ORPHA:486
HP:0025439	Pharyngitis	1991	ELANE	ORPHA:486
HP:0025439	Pharyngitis	1991	ELANE	ORPHA:2686
HP:0025439	Pharyngitis	2672	GFI1	ORPHA:486
HP:0025439	Pharyngitis	6729	SRP54	ORPHA:486
HP:0025439	Pharyngitis	81570	CLPB	ORPHA:486
HP:0025439	Pharyngitis	3115	HLA-DPB1	ORPHA:133
HP:0025439	Pharyngitis	7852	CXCR4	ORPHA:51636
HP:0025439	Pharyngitis	26191	PTPN22	ORPHA:397
HP:0025439	Pharyngitis	3106	HLA-B	ORPHA:397
HP:0025439	Pharyngitis	3123	HLA-DRB1	ORPHA:397
HP:0025439	Pharyngitis	8974	P4HA2	ORPHA:397
HP:0025439	Pharyngitis	4791	NFKB2	ORPHA:293978
HP:0025439	Pharyngitis	55315	SLC29A3	ORPHA:168569
HP:0025439	Pharyngitis	7132	TNFRSF1A	ORPHA:32960
HP:0025439	Pharyngitis	331	XIAP	OMIM:308240
HP:0025439	Pharyngitis	4068	SH2D1A	OMIM:308240
HP:0025439	Pharyngitis	79087	ALG12	ORPHA:79324
HP:0005001	Recurrent patellar dislocation	10586	MAB21L2	OMIM:615877
HP:0005001	Recurrent patellar dislocation	6261	RYR1	ORPHA:178145
HP:0005001	Recurrent patellar dislocation	63895	PIEZO2	OMIM:108145
HP:0005001	Recurrent patellar dislocation	54928	BPNT2	OMIM:614078
HP:0005001	Recurrent patellar dislocation	5567	PRKACB	OMIM:619143
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1311	COMP	ORPHA:750
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	9653	HS2ST1	OMIM:619194
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	3835	KIF22	OMIM:603546
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	9742	IFT140	OMIM:266920
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	8985	PLOD3	OMIM:612394
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	2720	GLB1	OMIM:253010
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	9469	CHST3	OMIM:143095
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	2137	EXTL3	OMIM:617425
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1280	COL2A1	ORPHA:85166
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	6399	TRAPPC2	OMIM:313400
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	50485	SMARCAL1	OMIM:242900
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	124583	CANT1	OMIM:617719
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	9719	ADAMTSL2	OMIM:231050
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	9382	COG1	OMIM:611209
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	990	CDC6	OMIM:613805
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	54808	DYM	ORPHA:239
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	5286	PIK3C2A	ORPHA:557003
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	4148	MATN3	OMIM:607078
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1302	COL11A2	OMIM:215150
HP:0005005	Femoral bowing present at birth, straightening with time	1277	COL1A1	OMIM:166220
HP:0005005	Femoral bowing present at birth, straightening with time	1278	COL1A2	OMIM:166220
HP:0010582	Irregular epiphyses	55325	UFSP2	OMIM:142669
HP:0010582	Irregular epiphyses	59341	TRPV4	OMIM:184252
HP:0010582	Irregular epiphyses	100151683	RNU4ATAC	ORPHA:353298
HP:0010582	Irregular epiphyses	9719	ADAMTSL2	OMIM:231050
HP:0010582	Irregular epiphyses	5830	PEX5	OMIM:616716
HP:0010582	Irregular epiphyses	1311	COMP	OMIM:177170
HP:0010582	Irregular epiphyses	6137	RPL13	OMIM:618728
HP:0010582	Irregular epiphyses	1280	COL2A1	OMIM:108300
HP:0010582	Irregular epiphyses	990	CDC6	OMIM:613805
HP:0010582	Irregular epiphyses	1297	COL9A1	OMIM:614135
HP:0010582	Irregular epiphyses	1301	COL11A1	OMIM:154780
HP:0010582	Irregular epiphyses	54928	BPNT2	OMIM:614078
HP:0010582	Irregular epiphyses	4148	MATN3	OMIM:608728
HP:0010582	Irregular epiphyses	4148	MATN3	OMIM:607078
HP:0010582	Irregular epiphyses	64802	NMNAT1	OMIM:619260
HP:0010582	Irregular epiphyses	23387	SIK3	OMIM:618162
HP:0010582	Irregular epiphyses	54808	DYM	OMIM:607326
HP:0010582	Irregular epiphyses	1298	COL9A2	OMIM:600204
HP:0010582	Irregular epiphyses	3835	KIF22	OMIM:603546
HP:0010582	Irregular epiphyses	1836	SLC26A2	OMIM:222600
HP:0010582	Irregular epiphyses	9321	TRIP11	OMIM:184260
HP:0010582	Irregular epiphyses	9469	CHST3	ORPHA:263463
HP:0010582	Irregular epiphyses	1299	COL9A3	OMIM:600969
HP:0010582	Irregular epiphyses	54187	NANS	OMIM:610442
HP:0010582	Irregular epiphyses	6399	TRAPPC2	OMIM:313400
HP:0010582	Irregular epiphyses	176	ACAN	OMIM:612813
HP:0005008	Large joint dislocations	126792	B3GALT6	ORPHA:536467
HP:0005008	Large joint dislocations	3835	KIF22	OMIM:603546
HP:0005008	Large joint dislocations	2317	FLNB	ORPHA:503
HP:0025441	Achilles tendon calcification	9365	KL	OMIM:617994
HP:0025443	Abnormal cardiac atrial physiology	659	BMPR2	OMIM:178600
HP:0025444	Reduced amygdala volume	1182	CLCN3	OMIM:619517
HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	4358	MPV17	OMIM:256810
HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	4507	MTAP	OMIM:112250
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:184255
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:151210
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:184250
HP:0003025	Metaphyseal irregularity	1280	COL2A1	ORPHA:93315
HP:0003025	Metaphyseal irregularity	2335	FN1	OMIM:184255
HP:0003025	Metaphyseal irregularity	2335	FN1	ORPHA:93315
HP:0003025	Metaphyseal irregularity	1311	COMP	ORPHA:750
HP:0003025	Metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0003025	Metaphyseal irregularity	2261	FGFR3	OMIM:187601
HP:0003025	Metaphyseal irregularity	2261	FGFR3	OMIM:187600
HP:0003025	Metaphyseal irregularity	3835	KIF22	ORPHA:93360
HP:0003025	Metaphyseal irregularity	3835	KIF22	OMIM:603546
HP:0003025	Metaphyseal irregularity	54808	DYM	OMIM:607326
HP:0003025	Metaphyseal irregularity	65992	DDRGK1	OMIM:602557
HP:0003025	Metaphyseal irregularity	65992	DDRGK1	ORPHA:93352
HP:0003025	Metaphyseal irregularity	1184	CLCN5	OMIM:300554
HP:0003025	Metaphyseal irregularity	1184	CLCN5	OMIM:300009
HP:0003025	Metaphyseal irregularity	142680	SLC34A3	OMIM:241530
HP:0003025	Metaphyseal irregularity	579	NKX3-2	OMIM:613330
HP:0003025	Metaphyseal irregularity	55699	IARS2	OMIM:616007
HP:0003025	Metaphyseal irregularity	5593	PRKG2	OMIM:619636
HP:0003025	Metaphyseal irregularity	4796	TONSL	ORPHA:93357
HP:0003025	Metaphyseal irregularity	4796	TONSL	OMIM:271510
HP:0003025	Metaphyseal irregularity	4322	MMP13	ORPHA:93356
HP:0003025	Metaphyseal irregularity	411	ARSB	OMIM:253200
HP:0003025	Metaphyseal irregularity	5130	PCYT1A	ORPHA:85167
HP:0003025	Metaphyseal irregularity	5130	PCYT1A	OMIM:608940
HP:0003025	Metaphyseal irregularity	54870	QRICH1	OMIM:617982
HP:0003025	Metaphyseal irregularity	23233	EXOC6B	OMIM:618395
HP:0003025	Metaphyseal irregularity	79631	EFL1	OMIM:617941
HP:0003025	Metaphyseal irregularity	79631	EFL1	ORPHA:811
HP:0003025	Metaphyseal irregularity	120227	CYP2R1	OMIM:600081
HP:0003025	Metaphyseal irregularity	23169	SLC35D1	OMIM:269250
HP:0003025	Metaphyseal irregularity	4148	MATN3	OMIM:607078
HP:0003025	Metaphyseal irregularity	3417	IDH1	ORPHA:99646
HP:0003025	Metaphyseal irregularity	5251	PHEX	OMIM:307800
HP:0003025	Metaphyseal irregularity	23387	SIK3	OMIM:618162
HP:0003025	Metaphyseal irregularity	9663	LPIN2	ORPHA:77297
HP:0003025	Metaphyseal irregularity	54	ACP5	OMIM:607944
HP:0003025	Metaphyseal irregularity	4318	MMP9	OMIM:613073
HP:0003025	Metaphyseal irregularity	26503	SLC17A5	OMIM:269920
HP:0003025	Metaphyseal irregularity	54187	NANS	OMIM:610442
HP:0003025	Metaphyseal irregularity	5745	PTH1R	ORPHA:79106
HP:0003025	Metaphyseal irregularity	633	BGN	OMIM:300106
HP:0003025	Metaphyseal irregularity	1594	CYP27B1	OMIM:264700
HP:0003025	Metaphyseal irregularity	83452	RAB33B	OMIM:615222
HP:0003025	Metaphyseal irregularity	7421	VDR	OMIM:277440
HP:0003025	Metaphyseal irregularity	3930	LBR	OMIM:618019
HP:0003025	Metaphyseal irregularity	5830	PEX5	OMIM:616716
HP:0003025	Metaphyseal irregularity	846	CASR	OMIM:239200
HP:0003025	Metaphyseal irregularity	6023	RMRP	OMIM:250460
HP:0003025	Metaphyseal irregularity	2879	GPX4	OMIM:250220
HP:0003025	Metaphyseal irregularity	59341	TRPV4	OMIM:113500
HP:0003025	Metaphyseal irregularity	79848	CSPP1	ORPHA:397715
HP:0003025	Metaphyseal irregularity	9786	KIAA0586	ORPHA:397715
HP:0003025	Metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0003025	Metaphyseal irregularity	755	CFAP410	OMIM:602271
HP:0003025	Metaphyseal irregularity	51119	SBDS	OMIM:260400
HP:0003025	Metaphyseal irregularity	134218	DNAJC21	OMIM:260400
HP:0003025	Metaphyseal irregularity	6729	SRP54	OMIM:260400
HP:0003025	Metaphyseal irregularity	6137	RPL13	OMIM:618728
HP:0003025	Metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0005017	Polyarticular chondrocalcinosis	56172	ANKH	OMIM:118600
HP:0003051	Enlarged metaphyses	2137	EXTL3	ORPHA:508533
HP:0003051	Enlarged metaphyses	1280	COL2A1	ORPHA:485
HP:0003051	Enlarged metaphyses	100151683	RNU4ATAC	OMIM:210710
HP:0003051	Enlarged metaphyses	9469	CHST3	OMIM:245600
HP:0003051	Enlarged metaphyses	26229	B3GAT3	OMIM:245600
HP:0003051	Enlarged metaphyses	6137	RPL13	OMIM:618728
HP:0003051	Enlarged metaphyses	6399	TRAPPC2	ORPHA:93284
HP:0005019	Diaphyseal thickening	3930	LBR	OMIM:215140
HP:0005019	Diaphyseal thickening	2990	GUSB	ORPHA:584
HP:0005019	Diaphyseal thickening	6473	SHOX	ORPHA:240
HP:0005019	Diaphyseal thickening	9791	PTDSS1	OMIM:151050
HP:0005019	Diaphyseal thickening	4038	LRP4	ORPHA:3152
HP:0005019	Diaphyseal thickening	50964	SOST	ORPHA:3152
HP:0005019	Diaphyseal thickening	50964	SOST	ORPHA:3416
HP:0005019	Diaphyseal thickening	50964	SOST	ORPHA:1513
HP:0005019	Diaphyseal thickening	4041	LRP5	ORPHA:2790
HP:0005019	Diaphyseal thickening	4041	LRP5	ORPHA:3416
HP:0005019	Diaphyseal thickening	6023	RMRP	ORPHA:175
HP:0005019	Diaphyseal thickening	3423	IDS	ORPHA:217085
HP:0005019	Diaphyseal thickening	3423	IDS	ORPHA:217093
HP:0005019	Diaphyseal thickening	3425	IDUA	OMIM:607014
HP:0005019	Diaphyseal thickening	3636	INPPL1	ORPHA:3144
HP:0005019	Diaphyseal thickening	23169	SLC35D1	ORPHA:3144
HP:0005019	Diaphyseal thickening	6916	TBXAS1	ORPHA:1802
HP:0025451	Testicular adrenal rest tumor	56246	MRAP	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	6770	STAR	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	4158	MC2R	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	23530	NNT	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	10587	TXNRD2	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	5573	PRKAR1A	ORPHA:1359
HP:0025451	Testicular adrenal rest tumor	50940	PDE11A	ORPHA:1359
HP:0025451	Testicular adrenal rest tumor	1584	CYP11B1	ORPHA:90795
HP:0025452	Pyoderma gangrenosum	10312	TCIRG1	ORPHA:486
HP:0025452	Pyoderma gangrenosum	1991	ELANE	ORPHA:486
HP:0025452	Pyoderma gangrenosum	2672	GFI1	ORPHA:486
HP:0025452	Pyoderma gangrenosum	6729	SRP54	ORPHA:486
HP:0025452	Pyoderma gangrenosum	81570	CLPB	ORPHA:486
HP:0025452	Pyoderma gangrenosum	9051	PSTPIP1	OMIM:604416
HP:0025452	Pyoderma gangrenosum	4790	NFKB1	OMIM:616576
HP:0025452	Pyoderma gangrenosum	90268	OTULIN	OMIM:619986
HP:0025452	Pyoderma gangrenosum	4210	MEFV	ORPHA:3243
HP:0025452	Pyoderma gangrenosum	4210	MEFV	OMIM:608068
HP:0025452	Pyoderma gangrenosum	9948	WDR1	OMIM:150550
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	5805	PTS	OMIM:261640
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	55768	NGLY1	OMIM:615273
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	55768	NGLY1	ORPHA:404454
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2074	ERCC6	OMIM:278800
HP:0025456	Abnormal CSF protein concentration	5621	PRNP	ORPHA:282166
HP:0025456	Abnormal CSF protein concentration	5621	PRNP	OMIM:123400
HP:0025456	Abnormal CSF protein concentration	4558	MT-TF	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4572	MT-TQ	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4512	MT-CO1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4513	MT-CO2	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4514	MT-CO3	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4578	MT-TW	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4540	MT-ND5	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4541	MT-ND6	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4535	MT-ND1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4538	MT-ND4	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4567	MT-TL1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4574	MT-TS1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4575	MT-TS2	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4564	MT-TH	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309256
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309271
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309263
HP:0025456	Abnormal CSF protein concentration	410	ARSA	OMIM:250100
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309256
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	OMIM:249900
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	OMIM:611722
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309271
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:206436
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309263
HP:0025456	Abnormal CSF protein concentration	10367	MICU1	OMIM:615673
HP:0025456	Abnormal CSF protein concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0025456	Abnormal CSF protein concentration	100996717	NOTCH2NLC	OMIM:603472
HP:0025456	Abnormal CSF protein concentration	5428	POLG	OMIM:258450
HP:0025456	Abnormal CSF protein concentration	5428	POLG	OMIM:203700
HP:0025456	Abnormal CSF protein concentration	5428	POLG	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	8659	ALDH4A1	ORPHA:79101
HP:0025456	Abnormal CSF protein concentration	285362	SUMF1	OMIM:272200
HP:0025456	Abnormal CSF protein concentration	5551	PRF1	OMIM:603553
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206443
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206448
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206436
HP:0025456	Abnormal CSF protein concentration	2581	GALC	OMIM:245200
HP:0025456	Abnormal CSF protein concentration	5191	PEX7	OMIM:266500
HP:0025456	Abnormal CSF protein concentration	5264	PHYH	OMIM:266500
HP:0025456	Abnormal CSF protein concentration	25828	TXN2	ORPHA:478029
HP:0025456	Abnormal CSF protein concentration	25828	TXN2	OMIM:616811
HP:0025456	Abnormal CSF protein concentration	2670	GFAP	OMIM:203450
HP:0025456	Abnormal CSF protein concentration	100506658	OCLN	OMIM:251290
HP:0025456	Abnormal CSF protein concentration	1890	TYMP	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	3980	LIG3	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	50484	RRM2B	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	51099	ABHD5	ORPHA:98907
HP:0025456	Abnormal CSF protein concentration	4724	NDUFS4	OMIM:252010
HP:0025456	Abnormal CSF protein concentration	966	CD59	OMIM:612300
HP:0025456	Abnormal CSF protein concentration	3119	HLA-DQB1	OMIM:123400
HP:0025456	Abnormal CSF protein concentration	773	CACNA1A	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	112476	PRRT2	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	6323	SCN1A	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	477	ATP1A2	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	7276	TTR	OMIM:105210
HP:0025456	Abnormal CSF protein concentration	5903	RANBP2	OMIM:608033
HP:0025456	Abnormal CSF protein concentration	5903	RANBP2	ORPHA:88619
HP:0025456	Abnormal CSF protein concentration	2632	GBE1	OMIM:263570
HP:0025456	Abnormal CSF protein concentration	2512	FTL	ORPHA:157846
HP:0025456	Abnormal CSF protein concentration	587	BCAT2	OMIM:618850
HP:0025456	Abnormal CSF protein concentration	4359	MPZ	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	4359	MPZ	ORPHA:101082
HP:0025456	Abnormal CSF protein concentration	5376	PMP22	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	1959	EGR2	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	57716	PRX	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	4001	LMNB1	ORPHA:99027
HP:0025456	Abnormal CSF protein concentration	56244	BTNL2	ORPHA:797
HP:0025456	Abnormal CSF protein concentration	3123	HLA-DRB1	ORPHA:797
HP:0025456	Abnormal CSF protein concentration	9990	SLC12A6	OMIM:218000
HP:0025456	Abnormal CSF protein concentration	7187	TRAF3	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	81622	UNC93B1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	148022	TICAM1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	7098	TLR3	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	29110	TBK1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	55768	NGLY1	OMIM:615273
HP:0025456	Abnormal CSF protein concentration	55768	NGLY1	ORPHA:404454
HP:0025456	Abnormal CSF protein concentration	6558	SLC12A2	OMIM:619080
HP:0025457	Decreased CSF protein concentration	55768	NGLY1	ORPHA:404454
HP:0025458	Decreased CSF albumin concentration	55768	NGLY1	OMIM:615273
HP:0025458	Decreased CSF albumin concentration	55768	NGLY1	ORPHA:404454
HP:0003065	Patellar hypoplasia	10804	GJB6	ORPHA:477
HP:0003065	Patellar hypoplasia	2706	GJB2	ORPHA:477
HP:0003065	Patellar hypoplasia	4010	LMX1B	ORPHA:2614
HP:0003065	Patellar hypoplasia	4010	LMX1B	OMIM:161200
HP:0003065	Patellar hypoplasia	4010	LMX1B	ORPHA:495818
HP:0003065	Patellar hypoplasia	9401	RECQL4	ORPHA:221016
HP:0003065	Patellar hypoplasia	9401	RECQL4	OMIM:218600
HP:0003065	Patellar hypoplasia	9496	TBX4	OMIM:147891
HP:0003065	Patellar hypoplasia	9496	TBX4	ORPHA:261279
HP:0003065	Patellar hypoplasia	57688	ZSWIM6	ORPHA:1827
HP:0003065	Patellar hypoplasia	57688	ZSWIM6	OMIM:603671
HP:0003065	Patellar hypoplasia	5307	PITX1	OMIM:119800
HP:0003065	Patellar hypoplasia	55148	UBR7	OMIM:619189
HP:0003065	Patellar hypoplasia	6812	STXBP1	ORPHA:495818
HP:0003065	Patellar hypoplasia	29980	DONSON	OMIM:617604
HP:0003065	Patellar hypoplasia	6662	SOX9	OMIM:114290
HP:0003065	Patellar hypoplasia	54496	PRMT7	ORPHA:464288
HP:0003065	Patellar hypoplasia	23594	ORC6	OMIM:613803
HP:0003065	Patellar hypoplasia	64682	ANAPC1	ORPHA:221008
HP:0005021	Bilateral elbow dislocations	9469	CHST3	OMIM:245600
HP:0005021	Bilateral elbow dislocations	26229	B3GAT3	OMIM:245600
HP:0005021	Bilateral elbow dislocations	9935	MAFB	OMIM:166300
HP:0005090	Lateral femoral bowing	4982	TNFRSF11B	OMIM:239000
HP:0005090	Lateral femoral bowing	2316	FLNA	OMIM:311300
HP:0005025	Hypoplastic distal humeri	2535	FZD2	OMIM:164745
HP:0005025	Hypoplastic distal humeri	10082	GPC6	OMIM:258315
HP:0005025	Hypoplastic distal humeri	10082	GPC6	ORPHA:93329
HP:0005026	Mesomelic/rhizomelic limb shortening	171023	ASXL1	OMIM:605039
HP:0005026	Mesomelic/rhizomelic limb shortening	6473	SHOX	ORPHA:2632
HP:0005028	Widened proximal tibial metaphyses	1300	COL10A1	ORPHA:174
HP:0005028	Widened proximal tibial metaphyses	658	BMPR1B	OMIM:609441
HP:0025460	High myoinositol in brain by MRS	55768	NGLY1	OMIM:615273
HP:0025460	High myoinositol in brain by MRS	11128	POLR3A	ORPHA:447896
HP:0025461	Abnormal cell morphology	24145	PANX1	ORPHA:488191
HP:0025461	Abnormal cell morphology	494551	WEE2	ORPHA:488191
HP:0025461	Abnormal cell morphology	197135	PATL2	ORPHA:488191
HP:0025461	Abnormal cell morphology	347688	TUBB8	ORPHA:488191
HP:0025461	Abnormal cell morphology	7783	ZP2	OMIM:618353
HP:0025461	Abnormal cell morphology	5428	POLG	ORPHA:298
HP:0025461	Abnormal cell morphology	1890	TYMP	ORPHA:298
HP:0025461	Abnormal cell morphology	3980	LIG3	ORPHA:298
HP:0025461	Abnormal cell morphology	50484	RRM2B	ORPHA:298
HP:0025461	Abnormal cell morphology	65998	ZFTA	ORPHA:251636
HP:0025461	Abnormal cell morphology	5970	RELA	ORPHA:251636
HP:0025461	Abnormal cell morphology	6311	ATXN2	ORPHA:98756
HP:0025461	Abnormal cell morphology	7414	VCL	OMIM:613255
HP:0025461	Abnormal cell morphology	7137	TNNI3	OMIM:611880
HP:0025461	Abnormal cell morphology	57538	ALPK3	OMIM:618052
HP:0025461	Abnormal cell morphology	70	ACTC1	OMIM:613424
HP:0025461	Abnormal cell morphology	1832	DSP	OMIM:605676
HP:0025461	Abnormal cell morphology	88	ACTN2	OMIM:612158
HP:0025461	Abnormal cell morphology	54800	KLHL24	OMIM:620236
HP:0025461	Abnormal cell morphology	2992	GYG1	ORPHA:263297
HP:0025461	Abnormal cell morphology	2992	GYG1	OMIM:613507
HP:0025461	Abnormal cell morphology	22845	DOLK	ORPHA:91131
HP:0025461	Abnormal cell morphology	493753	COA5	OMIM:616500
HP:0025461	Abnormal cell morphology	779	CACNA1S	ORPHA:423
HP:0025461	Abnormal cell morphology	6261	RYR1	ORPHA:423
HP:0025461	Abnormal cell morphology	57104	PNPLA2	ORPHA:565612
HP:0025461	Abnormal cell morphology	7139	TNNT2	OMIM:612422
HP:0025461	Abnormal cell morphology	442721	LMOD2	OMIM:619897
HP:0025461	Abnormal cell morphology	7298	TYMS	OMIM:620040
HP:0025461	Abnormal cell morphology	26277	TINF2	OMIM:268130
HP:0025461	Abnormal cell morphology	26277	TINF2	OMIM:613990
HP:0025461	Abnormal cell morphology	51750	RTEL1	OMIM:616373
HP:0025461	Abnormal cell morphology	55596	ZCCHC8	OMIM:618674
HP:0025461	Abnormal cell morphology	5073	PARN	OMIM:616371
HP:0025461	Abnormal cell morphology	5073	PARN	OMIM:616353
HP:0025461	Abnormal cell morphology	134218	DNAJC21	OMIM:617052
HP:0025461	Abnormal cell morphology	65057	ACD	OMIM:616553
HP:0025461	Abnormal cell morphology	7157	TP53	OMIM:618165
HP:0025461	Abnormal cell morphology	25913	POT1	OMIM:616568
HP:0025461	Abnormal cell morphology	7015	TERT	OMIM:614742
HP:0025461	Abnormal cell morphology	4194	MDM4	OMIM:618849
HP:0025461	Abnormal cell morphology	6117	RPA1	OMIM:619767
HP:0025461	Abnormal cell morphology	55135	WRAP53	OMIM:613988
HP:0025461	Abnormal cell morphology	6123	RPL3L	OMIM:619371
HP:0025461	Abnormal cell morphology	5190	PEX6	OMIM:614862
HP:0011017	Abnormal cellular physiology	83737	ITCH	OMIM:613385
HP:0011017	Abnormal cellular physiology	3117	HLA-DQA1	OMIM:212750
HP:0011017	Abnormal cellular physiology	3119	HLA-DQB1	OMIM:212750
HP:0011017	Abnormal cellular physiology	2475	MTOR	ORPHA:457485
HP:0011017	Abnormal cellular physiology	2475	MTOR	OMIM:616638
HP:0011017	Abnormal cellular physiology	284119	CAVIN1	OMIM:613327
HP:0011017	Abnormal cellular physiology	51604	PIGT	ORPHA:369837
HP:0011017	Abnormal cellular physiology	5336	PLCG2	OMIM:614878
HP:0011017	Abnormal cellular physiology	28956	LAMTOR2	OMIM:610798
HP:0011017	Abnormal cellular physiology	23387	SIK3	OMIM:618162
HP:0011017	Abnormal cellular physiology	5426	POLE	OMIM:615139
HP:0011017	Abnormal cellular physiology	140732	SUN5	ORPHA:529970
HP:0011017	Abnormal cellular physiology	83449	PMFBP1	ORPHA:529970
HP:0011017	Abnormal cellular physiology	4204	MECP2	ORPHA:1762
HP:0011017	Abnormal cellular physiology	6469	SHH	OMIM:147250
HP:0011017	Abnormal cellular physiology	3930	LBR	OMIM:169400
HP:0011017	Abnormal cellular physiology	2697	GJA1	ORPHA:2248
HP:0011017	Abnormal cellular physiology	1482	NKX2-5	ORPHA:2248
HP:0011017	Abnormal cellular physiology	10743	RAI1	ORPHA:1713
HP:0011017	Abnormal cellular physiology	6389	SDHA	ORPHA:255241
HP:0011017	Abnormal cellular physiology	80704	SLC19A3	ORPHA:255241
HP:0011017	Abnormal cellular physiology	91942	NDUFAF2	ORPHA:255241
HP:0011017	Abnormal cellular physiology	6834	SURF1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4723	NDUFV1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	55572	FOXRED1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4729	NDUFV2	ORPHA:255241
HP:0011017	Abnormal cellular physiology	55967	NDUFA12	ORPHA:255241
HP:0011017	Abnormal cellular physiology	51204	TACO1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4720	NDUFS2	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4724	NDUFS4	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4728	NDUFS8	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4722	NDUFS3	ORPHA:255241
HP:0011017	Abnormal cellular physiology	79133	NDUFAF5	ORPHA:255241
HP:0011017	Abnormal cellular physiology	5160	PDHA1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	5160	PDHA1	OMIM:312170
HP:0011017	Abnormal cellular physiology	100131801	PET100	ORPHA:255241
HP:0011017	Abnormal cellular physiology	1355	COX15	ORPHA:255241
HP:0011017	Abnormal cellular physiology	1892	ECHS1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	1892	ECHS1	OMIM:616277
HP:0011017	Abnormal cellular physiology	123263	MTFMT	ORPHA:255241
HP:0011017	Abnormal cellular physiology	51079	NDUFA13	ORPHA:255241
HP:0011017	Abnormal cellular physiology	374291	NDUFS7	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4705	NDUFA10	ORPHA:255241
HP:0011017	Abnormal cellular physiology	51601	LIPT1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4719	NDUFS1	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4697	NDUFA4	ORPHA:255241
HP:0011017	Abnormal cellular physiology	4704	NDUFA9	ORPHA:255241
HP:0011017	Abnormal cellular physiology	1737	DLAT	OMIM:245348
HP:0011017	Abnormal cellular physiology	51218	GLRX5	ORPHA:401866
HP:0011017	Abnormal cellular physiology	51218	GLRX5	OMIM:616859
HP:0011017	Abnormal cellular physiology	8050	PDHX	OMIM:245349
HP:0011017	Abnormal cellular physiology	8050	PDHX	ORPHA:255182
HP:0011017	Abnormal cellular physiology	5162	PDHB	ORPHA:255138
HP:0011017	Abnormal cellular physiology	11019	LIAS	OMIM:614462
HP:0011017	Abnormal cellular physiology	388962	BOLA3	OMIM:614299
HP:0011017	Abnormal cellular physiology	64116	SLC39A8	ORPHA:468699
HP:0011017	Abnormal cellular physiology	54704	PDP1	OMIM:608782
HP:0011017	Abnormal cellular physiology	54704	PDP1	ORPHA:79246
HP:0011017	Abnormal cellular physiology	5873	RAB27A	OMIM:607624
HP:0011017	Abnormal cellular physiology	1643	DDB2	OMIM:278740
HP:0011017	Abnormal cellular physiology	2073	ERCC5	OMIM:278780
HP:0011017	Abnormal cellular physiology	404672	GTF2H5	ORPHA:33364
HP:0011017	Abnormal cellular physiology	833	CARS1	ORPHA:33364
HP:0011017	Abnormal cellular physiology	136647	MPLKIP	ORPHA:33364
HP:0011017	Abnormal cellular physiology	6897	TARS1	ORPHA:33364
HP:0011017	Abnormal cellular physiology	2961	GTF2E2	ORPHA:33364
HP:0011017	Abnormal cellular physiology	7508	XPC	OMIM:278720
HP:0011017	Abnormal cellular physiology	7507	XPA	OMIM:278700
HP:0011017	Abnormal cellular physiology	6499	SKIC2	ORPHA:84064
HP:0011017	Abnormal cellular physiology	4982	TNFRSF11B	OMIM:239000
HP:0011017	Abnormal cellular physiology	4041	LRP5	OMIM:607634
HP:0011017	Abnormal cellular physiology	4952	OCRL	OMIM:309000
HP:0011017	Abnormal cellular physiology	760	CA2	OMIM:259730
HP:0011017	Abnormal cellular physiology	760	CA2	ORPHA:2785
HP:0011017	Abnormal cellular physiology	1186	CLCN7	OMIM:166600
HP:0011017	Abnormal cellular physiology	5660	PSAP	OMIM:610539
HP:0011017	Abnormal cellular physiology	1200	TPP1	OMIM:204500
HP:0011017	Abnormal cellular physiology	1201	CLN3	OMIM:204200
HP:0011017	Abnormal cellular physiology	2055	CLN8	OMIM:600143
HP:0011017	Abnormal cellular physiology	2055	CLN8	ORPHA:1947
HP:0011017	Abnormal cellular physiology	154881	KCTD7	OMIM:611726
HP:0011017	Abnormal cellular physiology	64170	CARD9	OMIM:212050
HP:0011017	Abnormal cellular physiology	7454	WAS	OMIM:301000
HP:0011017	Abnormal cellular physiology	7454	WAS	OMIM:313900
HP:0011017	Abnormal cellular physiology	1041	CDSN	ORPHA:90368
HP:0011017	Abnormal cellular physiology	1041	CDSN	OMIM:270300
HP:0011017	Abnormal cellular physiology	121391	KRT74	ORPHA:90368
HP:0011017	Abnormal cellular physiology	6777	STAT5B	OMIM:618985
HP:0011017	Abnormal cellular physiology	50943	FOXP3	OMIM:304790
HP:0011017	Abnormal cellular physiology	50943	FOXP3	ORPHA:37042
HP:0011017	Abnormal cellular physiology	3857	KRT9	OMIM:144200
HP:0011017	Abnormal cellular physiology	6774	STAT3	OMIM:147060
HP:0011017	Abnormal cellular physiology	6774	STAT3	ORPHA:2314
HP:0011017	Abnormal cellular physiology	7297	TYK2	OMIM:611521
HP:0011017	Abnormal cellular physiology	51135	IRAK4	OMIM:607676
HP:0011017	Abnormal cellular physiology	84905	ZNF341	OMIM:618282
HP:0011017	Abnormal cellular physiology	2239	GPC4	ORPHA:373
HP:0011017	Abnormal cellular physiology	2719	GPC3	ORPHA:373
HP:0011017	Abnormal cellular physiology	7941	PLA2G7	OMIM:147050
HP:0011017	Abnormal cellular physiology	50615	IL21R	OMIM:147050
HP:0011017	Abnormal cellular physiology	3566	IL4R	OMIM:147050
HP:0011017	Abnormal cellular physiology	2206	MS4A2	OMIM:147050
HP:0011017	Abnormal cellular physiology	1956	EGFR	OMIM:616069
HP:0011017	Abnormal cellular physiology	84433	CARD11	OMIM:617638
HP:0011017	Abnormal cellular physiology	6868	ADAM17	OMIM:614328
HP:0011017	Abnormal cellular physiology	56160	NSMCE3	OMIM:617241
HP:0011017	Abnormal cellular physiology	1828	DSG1	OMIM:615508
HP:0011017	Abnormal cellular physiology	3559	IL2RA	OMIM:606367
HP:0011017	Abnormal cellular physiology	2072	ERCC4	OMIM:278760
HP:0011017	Abnormal cellular physiology	2177	FANCD2	OMIM:227646
HP:0011017	Abnormal cellular physiology	2176	FANCC	OMIM:227645
HP:0011017	Abnormal cellular physiology	2178	FANCE	OMIM:600901
HP:0011017	Abnormal cellular physiology	2175	FANCA	OMIM:227650
HP:0011017	Abnormal cellular physiology	26277	TINF2	OMIM:268130
HP:0011017	Abnormal cellular physiology	2189	FANCG	OMIM:614082
HP:0011017	Abnormal cellular physiology	2189	FANCG	ORPHA:84
HP:0011017	Abnormal cellular physiology	2187	FANCB	OMIM:300514
HP:0011017	Abnormal cellular physiology	2187	FANCB	ORPHA:84
HP:0011017	Abnormal cellular physiology	7518	XRCC4	ORPHA:99812
HP:0011017	Abnormal cellular physiology	4683	NBN	ORPHA:647
HP:0011017	Abnormal cellular physiology	672	BRCA1	ORPHA:84
HP:0011017	Abnormal cellular physiology	10459	MAD2L2	ORPHA:84
HP:0011017	Abnormal cellular physiology	7516	XRCC2	ORPHA:84
HP:0011017	Abnormal cellular physiology	29089	UBE2T	ORPHA:84
HP:0011017	Abnormal cellular physiology	675	BRCA2	ORPHA:84
HP:0011017	Abnormal cellular physiology	55120	FANCL	ORPHA:84
HP:0011017	Abnormal cellular physiology	2188	FANCF	ORPHA:84
HP:0011017	Abnormal cellular physiology	5888	RAD51	ORPHA:84
HP:0011017	Abnormal cellular physiology	5889	RAD51C	ORPHA:84
HP:0011017	Abnormal cellular physiology	55159	RFWD3	ORPHA:84
HP:0011017	Abnormal cellular physiology	83990	BRIP1	ORPHA:84
HP:0011017	Abnormal cellular physiology	57697	FANCM	ORPHA:84
HP:0011017	Abnormal cellular physiology	79728	PALB2	ORPHA:84
HP:0011017	Abnormal cellular physiology	84464	SLX4	ORPHA:84
HP:0011017	Abnormal cellular physiology	55215	FANCI	ORPHA:84
HP:0011017	Abnormal cellular physiology	338657	CENATAC	OMIM:620153
HP:0011017	Abnormal cellular physiology	1327	COX4I1	OMIM:619060
HP:0011017	Abnormal cellular physiology	64858	DCLRE1B	OMIM:620133
HP:0011017	Abnormal cellular physiology	1161	ERCC8	OMIM:614621
HP:0011017	Abnormal cellular physiology	1161	ERCC8	OMIM:216400
HP:0011017	Abnormal cellular physiology	2074	ERCC6	OMIM:133540
HP:0011017	Abnormal cellular physiology	2074	ERCC6	OMIM:600630
HP:0011017	Abnormal cellular physiology	57654	UVSSA	OMIM:614640
HP:0011017	Abnormal cellular physiology	2071	ERCC3	OMIM:610651
HP:0011017	Abnormal cellular physiology	1203	CLN5	OMIM:256731
HP:0011017	Abnormal cellular physiology	54982	CLN6	OMIM:204300
HP:0011017	Abnormal cellular physiology	80331	DNAJC5	OMIM:162350
HP:0011017	Abnormal cellular physiology	2395	FXN	OMIM:229300
HP:0011017	Abnormal cellular physiology	1497	CTNS	OMIM:219800
HP:0011017	Abnormal cellular physiology	1738	DLD	ORPHA:2394
HP:0011017	Abnormal cellular physiology	3155	HMGCL	OMIM:246450
HP:0011017	Abnormal cellular physiology	4556	MT-TE	ORPHA:254864
HP:0011017	Abnormal cellular physiology	55687	TRMU	ORPHA:254864
HP:0011017	Abnormal cellular physiology	37	ACADVL	OMIM:201475
HP:0011017	Abnormal cellular physiology	4695	NDUFA2	OMIM:618235
HP:0011017	Abnormal cellular physiology	34	ACADM	OMIM:201450
HP:0011017	Abnormal cellular physiology	1294	COL7A1	ORPHA:89842
HP:0011017	Abnormal cellular physiology	27034	ACAD8	OMIM:611283
HP:0011017	Abnormal cellular physiology	27034	ACAD8	ORPHA:79159
HP:0011017	Abnormal cellular physiology	133686	NADK2	ORPHA:431361
HP:0011017	Abnormal cellular physiology	3033	HADH	ORPHA:71212
HP:0011017	Abnormal cellular physiology	28976	ACAD9	ORPHA:99901
HP:0011017	Abnormal cellular physiology	64087	MCCC2	OMIM:210210
HP:0011017	Abnormal cellular physiology	788	SLC25A20	ORPHA:159
HP:0011017	Abnormal cellular physiology	1962	EHHADH	ORPHA:3337
HP:0011017	Abnormal cellular physiology	2628	GATM	ORPHA:3337
HP:0011017	Abnormal cellular physiology	137682	NDUFAF6	ORPHA:3337
HP:0011017	Abnormal cellular physiology	6569	SLC34A1	ORPHA:3337
HP:0011017	Abnormal cellular physiology	6584	SLC22A5	OMIM:212140
HP:0011017	Abnormal cellular physiology	3071	NCKAP1L	OMIM:618982
HP:0011017	Abnormal cellular physiology	595	CCND1	ORPHA:29073
HP:0011017	Abnormal cellular physiology	29775	CARD10	OMIM:619632
HP:0011017	Abnormal cellular physiology	51371	POMP	OMIM:618048
HP:0011017	Abnormal cellular physiology	10526	IPO8	OMIM:619472
HP:0011017	Abnormal cellular physiology	5238	PGM3	ORPHA:443811
HP:0011017	Abnormal cellular physiology	5238	PGM3	OMIM:615816
HP:0011017	Abnormal cellular physiology	340061	STING1	OMIM:615934
HP:0011017	Abnormal cellular physiology	3575	IL7R	ORPHA:169154
HP:0011017	Abnormal cellular physiology	81704	DOCK8	OMIM:243700
HP:0011017	Abnormal cellular physiology	7174	TPP2	OMIM:619220
HP:0011017	Abnormal cellular physiology	22861	NLRP1	OMIM:617388
HP:0011017	Abnormal cellular physiology	3560	IL2RB	OMIM:618495
HP:0011017	Abnormal cellular physiology	3459	IFNGR1	OMIM:209950
HP:0011017	Abnormal cellular physiology	5696	PSMB8	OMIM:256040
HP:0011017	Abnormal cellular physiology	79158	GNPTAB	OMIM:252600
HP:0011017	Abnormal cellular physiology	79158	GNPTAB	OMIM:252500
HP:0011017	Abnormal cellular physiology	1786	DNMT1	ORPHA:314404
HP:0011017	Abnormal cellular physiology	26275	HIBCH	ORPHA:88639
HP:0011017	Abnormal cellular physiology	10483	SEC23B	OMIM:224100
HP:0011017	Abnormal cellular physiology	146059	CDAN1	OMIM:224120
HP:0011017	Abnormal cellular physiology	79648	MCPH1	OMIM:251200
HP:0011017	Abnormal cellular physiology	2859	GPR35	ORPHA:171
HP:0011017	Abnormal cellular physiology	10507	SEMA4D	ORPHA:171
HP:0011017	Abnormal cellular physiology	4485	MST1	ORPHA:171
HP:0011017	Abnormal cellular physiology	6925	TCF4	ORPHA:171
HP:0011017	Abnormal cellular physiology	200942	KLHDC8B	OMIM:236000
HP:0011017	Abnormal cellular physiology	90268	OTULIN	OMIM:617099
HP:0011017	Abnormal cellular physiology	3594	IL12RB1	ORPHA:186
HP:0011017	Abnormal cellular physiology	23534	TNPO3	ORPHA:186
HP:0011017	Abnormal cellular physiology	3592	IL12A	ORPHA:186
HP:0011017	Abnormal cellular physiology	6689	SPIB	ORPHA:186
HP:0011017	Abnormal cellular physiology	5450	POU2AF1	ORPHA:186
HP:0011017	Abnormal cellular physiology	9966	TNFSF15	ORPHA:186
HP:0011017	Abnormal cellular physiology	79258	MMEL1	ORPHA:186
HP:0011017	Abnormal cellular physiology	3663	IRF5	ORPHA:186
HP:0011017	Abnormal cellular physiology	1536	CYBB	OMIM:306400
HP:0011017	Abnormal cellular physiology	1535	CYBA	OMIM:233690
HP:0011017	Abnormal cellular physiology	2332	FMR1	ORPHA:908
HP:0011017	Abnormal cellular physiology	2332	FMR1	OMIM:300624
HP:0011017	Abnormal cellular physiology	84548	TMEM185A	ORPHA:100974
HP:0011017	Abnormal cellular physiology	6005	RHAG	OMIM:185000
HP:0011017	Abnormal cellular physiology	6513	SLC2A1	ORPHA:168577
HP:0011017	Abnormal cellular physiology	157570	ESCO2	OMIM:268300
HP:0011017	Abnormal cellular physiology	2108	ETFA	OMIM:231680
HP:0011017	Abnormal cellular physiology	2109	ETFB	OMIM:231680
HP:0011017	Abnormal cellular physiology	2110	ETFDH	OMIM:231680
HP:0011017	Abnormal cellular physiology	138050	HGSNAT	OMIM:252930
HP:0011017	Abnormal cellular physiology	2799	GNS	OMIM:252940
HP:0011017	Abnormal cellular physiology	10159	ATP6AP2	OMIM:301045
HP:0011017	Abnormal cellular physiology	83483	PLVAP	OMIM:618183
HP:0011017	Abnormal cellular physiology	51750	RTEL1	OMIM:615190
HP:0011017	Abnormal cellular physiology	3551	IKBKB	OMIM:615592
HP:0011017	Abnormal cellular physiology	5728	PTEN	OMIM:605309
HP:0011017	Abnormal cellular physiology	5728	PTEN	OMIM:158350
HP:0011017	Abnormal cellular physiology	8737	RIPK1	OMIM:618108
HP:0011017	Abnormal cellular physiology	113235	SLC46A1	ORPHA:90045
HP:0011017	Abnormal cellular physiology	2316	FLNA	ORPHA:99811
HP:0011017	Abnormal cellular physiology	4522	MTHFD1	OMIM:617780
HP:0011017	Abnormal cellular physiology	939	CD27	OMIM:615122
HP:0011017	Abnormal cellular physiology	10525	HYOU1	OMIM:233600
HP:0011017	Abnormal cellular physiology	4790	NFKB1	OMIM:616576
HP:0011017	Abnormal cellular physiology	4790	NFKB1	ORPHA:1572
HP:0011017	Abnormal cellular physiology	114803	MYSM1	OMIM:618116
HP:0011017	Abnormal cellular physiology	79840	NHEJ1	ORPHA:169079
HP:0011017	Abnormal cellular physiology	5994	RFXAP	ORPHA:572
HP:0011017	Abnormal cellular physiology	4261	CIITA	ORPHA:572
HP:0011017	Abnormal cellular physiology	5993	RFX5	ORPHA:572
HP:0011017	Abnormal cellular physiology	8625	RFXANK	ORPHA:572
HP:0011017	Abnormal cellular physiology	6023	RMRP	ORPHA:175
HP:0011017	Abnormal cellular physiology	7037	TFRC	OMIM:616740
HP:0011017	Abnormal cellular physiology	4125	MAN2B1	OMIM:248500
HP:0011017	Abnormal cellular physiology	10111	RAD50	OMIM:613078
HP:0011017	Abnormal cellular physiology	9839	ZEB2	ORPHA:261552
HP:0011017	Abnormal cellular physiology	9839	ZEB2	ORPHA:261537
HP:0011017	Abnormal cellular physiology	4478	MSN	OMIM:300988
HP:0011017	Abnormal cellular physiology	3070	HELLS	ORPHA:2268
HP:0011017	Abnormal cellular physiology	3070	HELLS	OMIM:616911
HP:0011017	Abnormal cellular physiology	1789	DNMT3B	ORPHA:2268
HP:0011017	Abnormal cellular physiology	83879	CDCA7	ORPHA:2268
HP:0011017	Abnormal cellular physiology	83879	CDCA7	OMIM:616910
HP:0011017	Abnormal cellular physiology	10320	IKZF1	OMIM:616873
HP:0011017	Abnormal cellular physiology	8742	TNFSF12	ORPHA:1572
HP:0011017	Abnormal cellular physiology	970	CD70	OMIM:618261
HP:0011017	Abnormal cellular physiology	9056	SLC7A7	ORPHA:470
HP:0011017	Abnormal cellular physiology	57217	TTC7A	OMIM:243150
HP:0011017	Abnormal cellular physiology	51095	TRNT1	OMIM:616084
HP:0011017	Abnormal cellular physiology	9508	ADAMTS3	ORPHA:2136
HP:0011017	Abnormal cellular physiology	147372	CCBE1	ORPHA:2136
HP:0011017	Abnormal cellular physiology	79633	FAT4	ORPHA:2136
HP:0011017	Abnormal cellular physiology	3507	IGHM	OMIM:601495
HP:0011017	Abnormal cellular physiology	493856	CISD2	OMIM:604928
HP:0011017	Abnormal cellular physiology	8915	BCL10	OMIM:616098
HP:0011017	Abnormal cellular physiology	4780	NFE2L2	OMIM:617744
HP:0011017	Abnormal cellular physiology	51816	ADA2	OMIM:615688
HP:0011017	Abnormal cellular physiology	6117	RPA1	OMIM:619767
HP:0011017	Abnormal cellular physiology	10165	SLC25A13	ORPHA:247598
HP:0011017	Abnormal cellular physiology	50485	SMARCAL1	OMIM:242900
HP:0011017	Abnormal cellular physiology	4938	OAS1	OMIM:618042
HP:0011017	Abnormal cellular physiology	7157	TP53	OMIM:618165
HP:0011017	Abnormal cellular physiology	9652	SKIC3	OMIM:222470
HP:0011017	Abnormal cellular physiology	27040	LAT	OMIM:617514
HP:0011017	Abnormal cellular physiology	9939	RBM8A	OMIM:274000
HP:0011017	Abnormal cellular physiology	1604	CD55	OMIM:226300
HP:0011017	Abnormal cellular physiology	3852	KRT5	ORPHA:79396
HP:0011017	Abnormal cellular physiology	3861	KRT14	ORPHA:79396
HP:0011017	Abnormal cellular physiology	219285	SAMD9L	ORPHA:2585
HP:0011017	Abnormal cellular physiology	204	AK2	ORPHA:33355
HP:0011017	Abnormal cellular physiology	2137	EXTL3	ORPHA:508533
HP:0011017	Abnormal cellular physiology	3561	IL2RG	ORPHA:276
HP:0011017	Abnormal cellular physiology	3561	IL2RG	OMIM:312863
HP:0011017	Abnormal cellular physiology	3561	IL2RG	OMIM:300400
HP:0011017	Abnormal cellular physiology	355	FAS	ORPHA:3261
HP:0011017	Abnormal cellular physiology	356	FASLG	ORPHA:3261
HP:0011017	Abnormal cellular physiology	5580	PRKCD	ORPHA:3261
HP:0011017	Abnormal cellular physiology	843	CASP10	ORPHA:3261
HP:0011017	Abnormal cellular physiology	10125	RASGRP1	ORPHA:3261
HP:0011017	Abnormal cellular physiology	10125	RASGRP1	OMIM:618534
HP:0011017	Abnormal cellular physiology	64421	DCLRE1C	ORPHA:275
HP:0011017	Abnormal cellular physiology	695	BTK	OMIM:300755
HP:0011017	Abnormal cellular physiology	10043	TOM1	OMIM:619510
HP:0011017	Abnormal cellular physiology	3572	IL6ST	OMIM:619752
HP:0011017	Abnormal cellular physiology	3702	ITK	OMIM:613011
HP:0011017	Abnormal cellular physiology	115650	TNFRSF13C	OMIM:613494
HP:0011017	Abnormal cellular physiology	115650	TNFRSF13C	OMIM:240500
HP:0011017	Abnormal cellular physiology	5295	PIK3R1	OMIM:616005
HP:0011017	Abnormal cellular physiology	9841	ZBTB24	OMIM:614069
HP:0011017	Abnormal cellular physiology	5880	RAC2	OMIM:618986
HP:0011017	Abnormal cellular physiology	5880	RAC2	OMIM:618987
HP:0011017	Abnormal cellular physiology	3932	LCK	OMIM:615758
HP:0011017	Abnormal cellular physiology	6948	TCN2	OMIM:275350
HP:0011017	Abnormal cellular physiology	6948	TCN2	ORPHA:859
HP:0011017	Abnormal cellular physiology	3570	IL6R	OMIM:618944
HP:0011017	Abnormal cellular physiology	987	LRBA	OMIM:614700
HP:0011017	Abnormal cellular physiology	8517	IKBKG	OMIM:301081
HP:0011017	Abnormal cellular physiology	54440	SASH3	OMIM:301082
HP:0011017	Abnormal cellular physiology	959	CD40LG	OMIM:308230
HP:0011017	Abnormal cellular physiology	4796	TONSL	OMIM:271510
HP:0011017	Abnormal cellular physiology	5293	PIK3CD	OMIM:619281
HP:0011017	Abnormal cellular physiology	4247	MGAT2	ORPHA:79329
HP:0011017	Abnormal cellular physiology	7555	CNBP	OMIM:602668
HP:0011017	Abnormal cellular physiology	1457	CSNK2A1	OMIM:617062
HP:0011017	Abnormal cellular physiology	57379	AICDA	OMIM:605258
HP:0011017	Abnormal cellular physiology	374354	NHLRC2	OMIM:618278
HP:0011017	Abnormal cellular physiology	60468	BACH2	OMIM:618394
HP:0011017	Abnormal cellular physiology	974	CD79B	OMIM:612692
HP:0011017	Abnormal cellular physiology	5788	PTPRC	OMIM:619924
HP:0011017	Abnormal cellular physiology	11005	SPINK5	OMIM:256500
HP:0011017	Abnormal cellular physiology	641	BLM	OMIM:210900
HP:0011017	Abnormal cellular physiology	641	BLM	ORPHA:125
HP:0011017	Abnormal cellular physiology	841	CASP8	OMIM:607271
HP:0011017	Abnormal cellular physiology	472	ATM	OMIM:208900
HP:0011017	Abnormal cellular physiology	59067	IL21	OMIM:615767
HP:0011017	Abnormal cellular physiology	29760	BLNK	OMIM:613502
HP:0011017	Abnormal cellular physiology	5294	PIK3CG	OMIM:619802
HP:0011017	Abnormal cellular physiology	7841	MOGS	ORPHA:79330
HP:0011017	Abnormal cellular physiology	3718	JAK3	ORPHA:35078
HP:0011017	Abnormal cellular physiology	331	XIAP	OMIM:308240
HP:0011017	Abnormal cellular physiology	4068	SH2D1A	OMIM:308240
HP:0011017	Abnormal cellular physiology	29851	ICOS	OMIM:607594
HP:0011017	Abnormal cellular physiology	29851	ICOS	OMIM:240500
HP:0011017	Abnormal cellular physiology	7298	TYMS	OMIM:620040
HP:0011017	Abnormal cellular physiology	57724	EPG5	OMIM:242840
HP:0011017	Abnormal cellular physiology	57724	EPG5	ORPHA:1493
HP:0011017	Abnormal cellular physiology	915	CD3D	ORPHA:169160
HP:0011017	Abnormal cellular physiology	916	CD3E	ORPHA:169160
HP:0011017	Abnormal cellular physiology	919	CD247	ORPHA:169160
HP:0011017	Abnormal cellular physiology	65082	VPS33A	ORPHA:505248
HP:0011017	Abnormal cellular physiology	5966	REL	OMIM:619652
HP:0011017	Abnormal cellular physiology	23495	TNFRSF13B	OMIM:240500
HP:0011017	Abnormal cellular physiology	930	CD19	OMIM:240500
HP:0011017	Abnormal cellular physiology	3978	LIG1	OMIM:619774
HP:0011017	Abnormal cellular physiology	6651	SON	ORPHA:500150
HP:0011017	Abnormal cellular physiology	1493	CTLA4	OMIM:616100
HP:0011017	Abnormal cellular physiology	4791	NFKB2	OMIM:615577
HP:0011017	Abnormal cellular physiology	1503	CTPS1	OMIM:615897
HP:0011017	Abnormal cellular physiology	7852	CXCR4	OMIM:193670
HP:0011017	Abnormal cellular physiology	5896	RAG1	ORPHA:331206
HP:0011017	Abnormal cellular physiology	5896	RAG1	OMIM:233650
HP:0011017	Abnormal cellular physiology	5897	RAG2	ORPHA:331206
HP:0011017	Abnormal cellular physiology	5897	RAG2	OMIM:233650
HP:0011017	Abnormal cellular physiology	8792	TNFRSF11A	OMIM:612301
HP:0011017	Abnormal cellular physiology	5557	PRIM1	OMIM:620005
HP:0011017	Abnormal cellular physiology	3431	SP110	OMIM:235550
HP:0011017	Abnormal cellular physiology	3514	IGKC	ORPHA:183675
HP:0011017	Abnormal cellular physiology	3501	IGHG2	ORPHA:183675
HP:0011017	Abnormal cellular physiology	79087	ALG12	OMIM:607143
HP:0011017	Abnormal cellular physiology	51311	TLR8	OMIM:301078
HP:0011017	Abnormal cellular physiology	2068	ERCC2	OMIM:601675
HP:0011017	Abnormal cellular physiology	7374	UNG	OMIM:608106
HP:0011017	Abnormal cellular physiology	958	CD40	OMIM:606843
HP:0011017	Abnormal cellular physiology	567	B2M	OMIM:241600
HP:0011017	Abnormal cellular physiology	8884	SLC5A6	OMIM:618973
HP:0011017	Abnormal cellular physiology	96459	FNIP1	OMIM:619705
HP:0011017	Abnormal cellular physiology	359948	IRF2BP2	OMIM:617765
HP:0011017	Abnormal cellular physiology	6688	SPI1	OMIM:619707
HP:0011017	Abnormal cellular physiology	9138	ARHGEF1	OMIM:618459
HP:0011017	Abnormal cellular physiology	84888	SPPL2A	OMIM:619549
HP:0011017	Abnormal cellular physiology	6929	TCF3	OMIM:619824
HP:0011017	Abnormal cellular physiology	165918	RNF168	OMIM:611943
HP:0011017	Abnormal cellular physiology	165918	RNF168	ORPHA:420741
HP:0011017	Abnormal cellular physiology	8883	NAE1	OMIM:620210
HP:0011017	Abnormal cellular physiology	5373	PMM2	OMIM:212065
HP:0011017	Abnormal cellular physiology	7922	SLC39A7	OMIM:619693
HP:0011017	Abnormal cellular physiology	1678	TIMM8A	ORPHA:52368
HP:0011017	Abnormal cellular physiology	973	CD79A	OMIM:613501
HP:0011017	Abnormal cellular physiology	973	CD79A	ORPHA:33110
HP:0011017	Abnormal cellular physiology	3543	IGLL1	OMIM:613500
HP:0011017	Abnormal cellular physiology	3543	IGLL1	ORPHA:33110
HP:0011017	Abnormal cellular physiology	56262	LRRC8A	OMIM:613506
HP:0011017	Abnormal cellular physiology	56262	LRRC8A	ORPHA:33110
HP:0011017	Abnormal cellular physiology	4860	PNP	OMIM:613179
HP:0011017	Abnormal cellular physiology	3953	LEPR	ORPHA:179494
HP:0011017	Abnormal cellular physiology	3952	LEP	ORPHA:66628
HP:0011017	Abnormal cellular physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0011017	Abnormal cellular physiology	7040	TGFB1	OMIM:618213
HP:0011017	Abnormal cellular physiology	146206	CARMIL2	OMIM:618131
HP:0011017	Abnormal cellular physiology	100	ADA	OMIM:102700
HP:0011017	Abnormal cellular physiology	56259	CTNNBL1	OMIM:619846
HP:0011017	Abnormal cellular physiology	7372	UMPS	ORPHA:30
HP:0011017	Abnormal cellular physiology	7372	UMPS	OMIM:258900
HP:0011017	Abnormal cellular physiology	6899	TBX1	OMIM:188400
HP:0011017	Abnormal cellular physiology	6899	TBX1	OMIM:192430
HP:0011017	Abnormal cellular physiology	6899	TBX1	ORPHA:567
HP:0011017	Abnormal cellular physiology	55630	SLC39A4	OMIM:201100
HP:0011017	Abnormal cellular physiology	57511	COG6	OMIM:614576
HP:0011017	Abnormal cellular physiology	9993	DGCR2	OMIM:192430
HP:0011017	Abnormal cellular physiology	8220	ESS2	OMIM:192430
HP:0011017	Abnormal cellular physiology	8214	DGCR6	OMIM:192430
HP:0011017	Abnormal cellular physiology	54487	DGCR8	OMIM:192430
HP:0011017	Abnormal cellular physiology	1312	COMT	ORPHA:567
HP:0011017	Abnormal cellular physiology	221037	JMJD1C	ORPHA:567
HP:0011017	Abnormal cellular physiology	2812	GP1BB	ORPHA:567
HP:0011017	Abnormal cellular physiology	6239	RREB1	ORPHA:567
HP:0011017	Abnormal cellular physiology	7290	HIRA	ORPHA:567
HP:0011017	Abnormal cellular physiology	9632	SEC24C	ORPHA:567
HP:0011017	Abnormal cellular physiology	7353	UFD1	ORPHA:567
HP:0011017	Abnormal cellular physiology	421	ARVCF	ORPHA:567
HP:0011017	Abnormal cellular physiology	4615	MYD88	ORPHA:33226
HP:0011017	Abnormal cellular physiology	4615	MYD88	OMIM:153600
HP:0011017	Abnormal cellular physiology	10397	NDRG1	OMIM:601455
HP:0011017	Abnormal cellular physiology	200205	IBA57	ORPHA:468661
HP:0011017	Abnormal cellular physiology	200205	IBA57	OMIM:615330
HP:0011017	Abnormal cellular physiology	112812	FDX2	OMIM:251900
HP:0011017	Abnormal cellular physiology	27247	NFU1	OMIM:605711
HP:0011017	Abnormal cellular physiology	6390	SDHB	OMIM:619224
HP:0011017	Abnormal cellular physiology	9054	NFS1	OMIM:619386
HP:0011017	Abnormal cellular physiology	6392	SDHD	OMIM:619167
HP:0011017	Abnormal cellular physiology	1376	CPT2	OMIM:608836
HP:0011017	Abnormal cellular physiology	1376	CPT2	ORPHA:228305
HP:0011017	Abnormal cellular physiology	1376	CPT2	ORPHA:228308
HP:0011017	Abnormal cellular physiology	6341	SCO1	OMIM:619048
HP:0011017	Abnormal cellular physiology	4568	MT-TL2	ORPHA:663
HP:0011017	Abnormal cellular physiology	4567	MT-TL1	ORPHA:663
HP:0011017	Abnormal cellular physiology	4567	MT-TL1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4570	MT-TN	ORPHA:663
HP:0011017	Abnormal cellular physiology	4574	MT-TS1	ORPHA:663
HP:0011017	Abnormal cellular physiology	4574	MT-TS1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4558	MT-TF	ORPHA:550
HP:0011017	Abnormal cellular physiology	4572	MT-TQ	ORPHA:550
HP:0011017	Abnormal cellular physiology	4512	MT-CO1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4513	MT-CO2	ORPHA:550
HP:0011017	Abnormal cellular physiology	4514	MT-CO3	ORPHA:550
HP:0011017	Abnormal cellular physiology	4578	MT-TW	ORPHA:550
HP:0011017	Abnormal cellular physiology	4540	MT-ND5	ORPHA:550
HP:0011017	Abnormal cellular physiology	4541	MT-ND6	ORPHA:550
HP:0011017	Abnormal cellular physiology	4535	MT-ND1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4535	MT-ND1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4538	MT-ND4	ORPHA:550
HP:0011017	Abnormal cellular physiology	4575	MT-TS2	ORPHA:550
HP:0011017	Abnormal cellular physiology	4564	MT-TH	ORPHA:550
HP:0011017	Abnormal cellular physiology	54539	NDUFB11	ORPHA:2609
HP:0011017	Abnormal cellular physiology	25915	NDUFAF3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	51103	NDUFAF1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	51300	TIMMDC1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4716	NDUFB10	ORPHA:2609
HP:0011017	Abnormal cellular physiology	284184	NDUFAF8	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4537	MT-ND3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4694	NDUFA1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4726	NDUFS6	ORPHA:2609
HP:0011017	Abnormal cellular physiology	126328	NDUFA11	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4709	NDUFB3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	80224	NUBPL	ORPHA:2609
HP:0011017	Abnormal cellular physiology	29078	NDUFAF4	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4700	NDUFA6	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4536	MT-ND2	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4715	NDUFB9	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4508	MT-ATP6	ORPHA:644
HP:0011017	Abnormal cellular physiology	10939	AFG3L2	ORPHA:313772
HP:0011017	Abnormal cellular physiology	4625	MYH7	ORPHA:59135
HP:0011017	Abnormal cellular physiology	6687	SPG7	ORPHA:99013
HP:0011017	Abnormal cellular physiology	6901	TAFAZZIN	ORPHA:111
HP:0011017	Abnormal cellular physiology	6901	TAFAZZIN	OMIM:302060
HP:0011017	Abnormal cellular physiology	2521	FUS	ORPHA:275872
HP:0011017	Abnormal cellular physiology	8878	SQSTM1	ORPHA:275872
HP:0011017	Abnormal cellular physiology	7415	VCP	ORPHA:275872
HP:0011017	Abnormal cellular physiology	23435	TARDBP	ORPHA:275872
HP:0011017	Abnormal cellular physiology	29110	TBK1	ORPHA:275872
HP:0011017	Abnormal cellular physiology	3028	HSD17B10	OMIM:300438
HP:0011017	Abnormal cellular physiology	10128	LRPPRC	OMIM:220111
HP:0011017	Abnormal cellular physiology	10128	LRPPRC	ORPHA:70472
HP:0011017	Abnormal cellular physiology	9997	SCO2	OMIM:604377
HP:0011017	Abnormal cellular physiology	51241	COX16	OMIM:619355
HP:0011017	Abnormal cellular physiology	26235	FBXL4	OMIM:615471
HP:0011017	Abnormal cellular physiology	51102	MECR	ORPHA:508093
HP:0011017	Abnormal cellular physiology	498	ATP5F1A	OMIM:616045
HP:0011017	Abnormal cellular physiology	80308	FLAD1	OMIM:255100
HP:0011017	Abnormal cellular physiology	400916	CHCHD10	OMIM:616209
HP:0011017	Abnormal cellular physiology	85476	GFM1	OMIM:609060
HP:0011017	Abnormal cellular physiology	10102	TSFM	OMIM:610505
HP:0011017	Abnormal cellular physiology	57176	VARS2	OMIM:615917
HP:0011017	Abnormal cellular physiology	56945	MRPS22	OMIM:611719
HP:0011017	Abnormal cellular physiology	92667	MGME1	OMIM:615084
HP:0011017	Abnormal cellular physiology	6182	MRPL12	OMIM:618951
HP:0011017	Abnormal cellular physiology	79587	CARS2	ORPHA:477774
HP:0011017	Abnormal cellular physiology	79587	CARS2	OMIM:616672
HP:0011017	Abnormal cellular physiology	291	SLC25A4	OMIM:617184
HP:0011017	Abnormal cellular physiology	291	SLC25A4	OMIM:615418
HP:0011017	Abnormal cellular physiology	84340	GFM2	OMIM:618397
HP:0011017	Abnormal cellular physiology	55278	QRSL1	OMIM:618835
HP:0011017	Abnormal cellular physiology	5428	POLG	OMIM:613662
HP:0011017	Abnormal cellular physiology	57570	TRMT5	OMIM:616539
HP:0011017	Abnormal cellular physiology	51649	MRPS23	OMIM:618952
HP:0011017	Abnormal cellular physiology	57038	RARS2	OMIM:611523
HP:0011017	Abnormal cellular physiology	283459	GATC	OMIM:618839
HP:0011017	Abnormal cellular physiology	28958	COA3	OMIM:619058
HP:0011017	Abnormal cellular physiology	54802	TRIT1	OMIM:617873
HP:0011017	Abnormal cellular physiology	116228	COX20	OMIM:619054
HP:0011017	Abnormal cellular physiology	63899	NSUN3	OMIM:619012
HP:0011017	Abnormal cellular physiology	388753	COA6	OMIM:616501
HP:0011017	Abnormal cellular physiology	7084	TK2	OMIM:609560
HP:0011017	Abnormal cellular physiology	493753	COA5	OMIM:616500
HP:0011017	Abnormal cellular physiology	4358	MPV17	OMIM:256810
HP:0011017	Abnormal cellular physiology	29960	MRM2	OMIM:618567
HP:0011017	Abnormal cellular physiology	708	C1QBP	OMIM:617713
HP:0011017	Abnormal cellular physiology	91574	MTRFR	OMIM:613559
HP:0011017	Abnormal cellular physiology	124454	EARS2	OMIM:614924
HP:0011017	Abnormal cellular physiology	54675	CRLS1	OMIM:620167
HP:0011017	Abnormal cellular physiology	55750	AGK	OMIM:212350
HP:0011017	Abnormal cellular physiology	23479	ISCU	OMIM:255125
HP:0011017	Abnormal cellular physiology	1716	DGUOK	OMIM:251880
HP:0011017	Abnormal cellular physiology	84334	COA8	OMIM:619061
HP:0011017	Abnormal cellular physiology	1339	COX6A2	OMIM:619062
HP:0011017	Abnormal cellular physiology	8802	SUCLG1	OMIM:245400
HP:0011017	Abnormal cellular physiology	8802	SUCLG1	ORPHA:17
HP:0011017	Abnormal cellular physiology	100303755	PET117	OMIM:619063
HP:0011017	Abnormal cellular physiology	80324	PUS1	OMIM:600462
HP:0011017	Abnormal cellular physiology	9377	COX5A	OMIM:619064
HP:0011017	Abnormal cellular physiology	64432	MRPS25	OMIM:619025
HP:0011017	Abnormal cellular physiology	57505	AARS2	OMIM:614096
HP:0011017	Abnormal cellular physiology	29928	TIMM22	OMIM:618851
HP:0011017	Abnormal cellular physiology	63931	MRPS14	OMIM:618378
HP:0011017	Abnormal cellular physiology	115286	SLC25A26	OMIM:616794
HP:0011017	Abnormal cellular physiology	51067	YARS2	OMIM:613561
HP:0011017	Abnormal cellular physiology	50484	RRM2B	OMIM:612075
HP:0011017	Abnormal cellular physiology	125170	MIEF2	OMIM:619024
HP:0011017	Abnormal cellular physiology	84705	GTPBP3	OMIM:616198
HP:0011017	Abnormal cellular physiology	84705	GTPBP3	ORPHA:444013
HP:0011017	Abnormal cellular physiology	9131	AIFM1	OMIM:300816
HP:0011017	Abnormal cellular physiology	84300	UQCC2	OMIM:615824
HP:0011017	Abnormal cellular physiology	51021	MRPS16	OMIM:610498
HP:0011017	Abnormal cellular physiology	79731	NARS2	OMIM:616239
HP:0011017	Abnormal cellular physiology	3735	KARS1	OMIM:619147
HP:0011017	Abnormal cellular physiology	8803	SUCLA2	OMIM:612073
HP:0011017	Abnormal cellular physiology	2671	GFER	OMIM:613076
HP:0011017	Abnormal cellular physiology	84876	ORAI1	OMIM:612782
HP:0011017	Abnormal cellular physiology	6786	STIM1	OMIM:612783
HP:0011017	Abnormal cellular physiology	940	CD28	ORPHA:3162
HP:0011017	Abnormal cellular physiology	7133	TNFRSF1B	ORPHA:3162
HP:0011017	Abnormal cellular physiology	6729	SRP54	OMIM:618752
HP:0011017	Abnormal cellular physiology	213	ALB	ORPHA:86816
HP:0011017	Abnormal cellular physiology	3845	KRAS	OMIM:614470
HP:0011017	Abnormal cellular physiology	4893	NRAS	OMIM:614470
HP:0011017	Abnormal cellular physiology	6440	SFTPC	OMIM:178500
HP:0011017	Abnormal cellular physiology	727897	MUC5B	OMIM:178500
HP:0011017	Abnormal cellular physiology	729238	SFTPA2	OMIM:178500
HP:0011017	Abnormal cellular physiology	11311	VPS45	OMIM:615285
HP:0011017	Abnormal cellular physiology	5184	PEPD	OMIM:170100
HP:0011017	Abnormal cellular physiology	1277	COL1A1	ORPHA:1310
HP:0011017	Abnormal cellular physiology	5692	PSMB4	OMIM:617591
HP:0011017	Abnormal cellular physiology	5698	PSMB9	OMIM:617591
HP:0011017	Abnormal cellular physiology	2629	GBA1	ORPHA:77261
HP:0011017	Abnormal cellular physiology	2629	GBA1	ORPHA:77259
HP:0011017	Abnormal cellular physiology	9051	PSTPIP1	ORPHA:69126
HP:0011017	Abnormal cellular physiology	23064	SETX	OMIM:606002
HP:0011017	Abnormal cellular physiology	1991	ELANE	OMIM:202700
HP:0011017	Abnormal cellular physiology	950	SCARB2	ORPHA:77259
HP:0011017	Abnormal cellular physiology	8314	BAP1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	4771	NF2	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6598	SMARCB1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	5155	PDGFB	ORPHA:2495
HP:0011017	Abnormal cellular physiology	84231	TRAF7	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6608	SMO	ORPHA:2495
HP:0011017	Abnormal cellular physiology	207	AKT1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	5290	PIK3CA	ORPHA:2495
HP:0011017	Abnormal cellular physiology	7015	TERT	ORPHA:2495
HP:0011017	Abnormal cellular physiology	51684	SUFU	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6605	SMARCE1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	7156	TOP3A	OMIM:618097
HP:0011017	Abnormal cellular physiology	57192	MCOLN1	ORPHA:578
HP:0011017	Abnormal cellular physiology	57192	MCOLN1	OMIM:252650
HP:0011017	Abnormal cellular physiology	5286	PIK3C2A	ORPHA:557003
HP:0011017	Abnormal cellular physiology	4361	MRE11	OMIM:604391
HP:0011017	Abnormal cellular physiology	2625	GATA3	ORPHA:2237
HP:0011017	Abnormal cellular physiology	3123	HLA-DRB1	OMIM:181000
HP:0011017	Abnormal cellular physiology	9200	HACD1	OMIM:619967
HP:0011017	Abnormal cellular physiology	128240	NAXE	OMIM:617186
HP:0011017	Abnormal cellular physiology	1020	CDK5	OMIM:616342
HP:0011017	Abnormal cellular physiology	4702	NDUFA8	OMIM:619272
HP:0011017	Abnormal cellular physiology	4718	NDUFC2	OMIM:619170
HP:0011017	Abnormal cellular physiology	55037	PTCD3	OMIM:619057
HP:0011017	Abnormal cellular physiology	4714	NDUFB8	OMIM:618252
HP:0011017	Abnormal cellular physiology	122961	ISCA2	OMIM:616370
HP:0011017	Abnormal cellular physiology	60528	ELAC2	OMIM:615440
HP:0011017	Abnormal cellular physiology	1468	SLC25A10	OMIM:618972
HP:0011017	Abnormal cellular physiology	4713	NDUFB7	OMIM:620135
HP:0011017	Abnormal cellular physiology	1537	CYC1	OMIM:615453
HP:0011017	Abnormal cellular physiology	27089	UQCRQ	OMIM:615159
HP:0011017	Abnormal cellular physiology	54902	TTC19	OMIM:615157
HP:0011017	Abnormal cellular physiology	7381	UQCRB	OMIM:615158
HP:0011017	Abnormal cellular physiology	25821	MTO1	OMIM:614702
HP:0011017	Abnormal cellular physiology	90624	LYRM7	OMIM:615838
HP:0011017	Abnormal cellular physiology	25828	TXN2	ORPHA:478029
HP:0011017	Abnormal cellular physiology	25828	TXN2	OMIM:616811
HP:0011017	Abnormal cellular physiology	790955	UQCC3	OMIM:616111
HP:0011017	Abnormal cellular physiology	7388	UQCRH	OMIM:620137
HP:0011017	Abnormal cellular physiology	617	BCS1L	OMIM:124000
HP:0011017	Abnormal cellular physiology	54968	TMEM70	OMIM:614052
HP:0011017	Abnormal cellular physiology	92609	TIMM50	ORPHA:505216
HP:0011017	Abnormal cellular physiology	513	ATP5F1D	OMIM:618120
HP:0011017	Abnormal cellular physiology	514	ATP5F1E	OMIM:614053
HP:0011017	Abnormal cellular physiology	91647	ATPAF2	OMIM:604273
HP:0011017	Abnormal cellular physiology	4312	MMP1	ORPHA:79408
HP:0011017	Abnormal cellular physiology	56947	MFF	ORPHA:485421
HP:0011017	Abnormal cellular physiology	2232	FDXR	ORPHA:543470
HP:0011017	Abnormal cellular physiology	1890	TYMP	ORPHA:298
HP:0011017	Abnormal cellular physiology	3980	LIG3	ORPHA:298
HP:0011017	Abnormal cellular physiology	56652	TWNK	ORPHA:254892
HP:0011017	Abnormal cellular physiology	11232	POLG2	ORPHA:254892
HP:0011017	Abnormal cellular physiology	10059	DNM1L	ORPHA:330050
HP:0011017	Abnormal cellular physiology	5250	SLC25A3	ORPHA:91130
HP:0011017	Abnormal cellular physiology	10020	GNE	ORPHA:3166
HP:0011017	Abnormal cellular physiology	5830	PEX5	OMIM:214110
HP:0011017	Abnormal cellular physiology	6813	STXBP2	OMIM:613101
HP:0011017	Abnormal cellular physiology	5551	PRF1	ORPHA:540
HP:0011017	Abnormal cellular physiology	5551	PRF1	OMIM:603553
HP:0011017	Abnormal cellular physiology	8676	STX11	ORPHA:540
HP:0011017	Abnormal cellular physiology	201294	UNC13D	ORPHA:540
HP:0011017	Abnormal cellular physiology	201294	UNC13D	OMIM:608898
HP:0011017	Abnormal cellular physiology	58484	NLRC4	OMIM:616050
HP:0011017	Abnormal cellular physiology	3937	LCP2	OMIM:619374
HP:0011017	Abnormal cellular physiology	7456	WIPF1	OMIM:614493
HP:0011017	Abnormal cellular physiology	2214	FCGR3A	OMIM:615707
HP:0011017	Abnormal cellular physiology	8546	AP3B1	OMIM:608233
HP:0011017	Abnormal cellular physiology	7535	ZAP70	OMIM:617006
HP:0011017	Abnormal cellular physiology	4703	NEB	OMIM:256030
HP:0011017	Abnormal cellular physiology	7273	TTN	OMIM:611705
HP:0011017	Abnormal cellular physiology	57591	MRTFA	OMIM:618847
HP:0011017	Abnormal cellular physiology	2271	FH	OMIM:606812
HP:0011017	Abnormal cellular physiology	55863	TMEM126B	OMIM:618250
HP:0011017	Abnormal cellular physiology	79784	MYH14	ORPHA:397744
HP:0011017	Abnormal cellular physiology	57128	LYRM4	OMIM:615595
HP:0011017	Abnormal cellular physiology	3981	LIG4	OMIM:254500
HP:0011017	Abnormal cellular physiology	84061	MAGT1	OMIM:300853
HP:0011017	Abnormal cellular physiology	50619	DEF6	OMIM:619573
HP:0011017	Abnormal cellular physiology	6772	STAT1	OMIM:614162
HP:0011017	Abnormal cellular physiology	55388	MCM10	OMIM:619313
HP:0011017	Abnormal cellular physiology	55719	SLF2	OMIM:620184
HP:0011017	Abnormal cellular physiology	1794	DOCK2	OMIM:616433
HP:0011017	Abnormal cellular physiology	23765	IL17RA	OMIM:613953
HP:0011017	Abnormal cellular physiology	4000	LMNA	ORPHA:300751
HP:0011017	Abnormal cellular physiology	6850	SYK	OMIM:619381
HP:0011017	Abnormal cellular physiology	10625	IVNS1ABP	OMIM:618969
HP:0011017	Abnormal cellular physiology	537	ATP6AP1	OMIM:300972
HP:0011017	Abnormal cellular physiology	90417	KNSTRN	ORPHA:221139
HP:0011017	Abnormal cellular physiology	975	CD81	OMIM:613496
HP:0011017	Abnormal cellular physiology	931	MS4A1	OMIM:613495
HP:0011017	Abnormal cellular physiology	64135	IFIH1	OMIM:619773
HP:0011017	Abnormal cellular physiology	30011	SH3KBP1	OMIM:300310
HP:0011017	Abnormal cellular physiology	24145	PANX1	OMIM:618550
HP:0011017	Abnormal cellular physiology	9453	GGPS1	OMIM:619518
HP:0011017	Abnormal cellular physiology	1120	CHKB	OMIM:602541
HP:0011017	Abnormal cellular physiology	410	ARSA	OMIM:250100
HP:0011017	Abnormal cellular physiology	134218	DNAJC21	OMIM:617052
HP:0011017	Abnormal cellular physiology	4173	MCM4	OMIM:609981
HP:0011017	Abnormal cellular physiology	1763	DNA2	ORPHA:352470
HP:0011017	Abnormal cellular physiology	119559	SFXN4	OMIM:615578
HP:0011017	Abnormal cellular physiology	2992	GYG1	ORPHA:263297
HP:0011017	Abnormal cellular physiology	427	ASAH1	OMIM:228000
HP:0011017	Abnormal cellular physiology	917	CD3G	OMIM:615607
HP:0011017	Abnormal cellular physiology	7737	RNF113A	OMIM:300953
HP:0011017	Abnormal cellular physiology	1380	CR2	OMIM:614699
HP:0011017	Abnormal cellular physiology	3030	HADHA	OMIM:609016
HP:0011017	Abnormal cellular physiology	7248	TSC1	OMIM:191100
HP:0011017	Abnormal cellular physiology	701	BUB1B	OMIM:176430
HP:0011017	Abnormal cellular physiology	701	BUB1B	OMIM:257300
HP:0011017	Abnormal cellular physiology	9319	TRIP13	OMIM:617598
HP:0011017	Abnormal cellular physiology	1593	CYP27A1	ORPHA:909
HP:0011017	Abnormal cellular physiology	87178	PNPT1	ORPHA:319514
HP:0011017	Abnormal cellular physiology	84277	DNAJC30	ORPHA:104
HP:0011017	Abnormal cellular physiology	4519	MT-CYB	ORPHA:104
HP:0011017	Abnormal cellular physiology	4539	MT-ND4L	ORPHA:104
HP:0011017	Abnormal cellular physiology	5495	PPM1B	ORPHA:163693
HP:0011017	Abnormal cellular physiology	6519	SLC3A1	ORPHA:163693
HP:0011017	Abnormal cellular physiology	9581	PREPL	ORPHA:163693
HP:0011017	Abnormal cellular physiology	79823	CAMKMT	ORPHA:163693
HP:0011017	Abnormal cellular physiology	6773	STAT2	OMIM:616636
HP:0011017	Abnormal cellular physiology	3394	IRF8	OMIM:226990
HP:0011017	Abnormal cellular physiology	4598	MVK	OMIM:260920
HP:0011017	Abnormal cellular physiology	4598	MVK	OMIM:610377
HP:0011017	Abnormal cellular physiology	55343	SLC35C1	ORPHA:99843
HP:0011017	Abnormal cellular physiology	10892	MALT1	OMIM:615468
HP:0011017	Abnormal cellular physiology	11151	CORO1A	OMIM:615401
HP:0011017	Abnormal cellular physiology	54790	TET2	OMIM:619126
HP:0025463	Abnormality of redox activity	3937	LCP2	OMIM:619374
HP:0025465	Abnormal circulating beta globulin level	7018	TF	OMIM:209300
HP:0025465	Abnormal circulating beta globulin level	5994	RFXAP	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	4261	CIITA	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	5993	RFX5	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	8625	RFXANK	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	567	B2M	OMIM:241600
HP:0025465	Abnormal circulating beta globulin level	2495	FTH1	OMIM:615517
HP:0025465	Abnormal circulating beta globulin level	213	ALB	OMIM:616000
HP:0025466	Beta 2-microglobulinuria	5076	PAX2	ORPHA:97362
HP:0025466	Beta 2-microglobulinuria	5087	PBX1	ORPHA:97362
HP:0025466	Beta 2-microglobulinuria	6514	SLC2A2	OMIM:227810
HP:0025466	Beta 2-microglobulinuria	1184	CLCN5	OMIM:308990
HP:0010501	Limitation of knee mobility	56896	DPYSL5	OMIM:619435
HP:0010501	Limitation of knee mobility	55790	CSGALNACT1	OMIM:618870
HP:0010501	Limitation of knee mobility	1299	COL9A3	OMIM:600969
HP:0010501	Limitation of knee mobility	10082	GPC6	OMIM:258315
HP:0010501	Limitation of knee mobility	2201	FBN2	OMIM:121050
HP:0010501	Limitation of knee mobility	2146	EZH2	OMIM:277590
HP:0010501	Limitation of knee mobility	538	ATP7A	OMIM:304150
HP:0010501	Limitation of knee mobility	6335	SCN9A	ORPHA:33069
HP:0010501	Limitation of knee mobility	6335	SCN9A	ORPHA:36387
HP:0010501	Limitation of knee mobility	6326	SCN2A	ORPHA:33069
HP:0010501	Limitation of knee mobility	6326	SCN2A	ORPHA:36387
HP:0010501	Limitation of knee mobility	2554	GABRA1	ORPHA:33069
HP:0010501	Limitation of knee mobility	6323	SCN1A	ORPHA:33069
HP:0010501	Limitation of knee mobility	6323	SCN1A	ORPHA:36387
HP:0010501	Limitation of knee mobility	6324	SCN1B	ORPHA:33069
HP:0010501	Limitation of knee mobility	6324	SCN1B	ORPHA:36387
HP:0010501	Limitation of knee mobility	57526	PCDH19	ORPHA:33069
HP:0010501	Limitation of knee mobility	2566	GABRG2	ORPHA:33069
HP:0010501	Limitation of knee mobility	2566	GABRG2	ORPHA:36387
HP:0010501	Limitation of knee mobility	112755	STX1B	ORPHA:36387
HP:0010501	Limitation of knee mobility	2563	GABRD	ORPHA:36387
HP:0010501	Limitation of knee mobility	348980	HCN1	ORPHA:36387
HP:0010501	Limitation of knee mobility	84059	ADGRV1	ORPHA:36387
HP:0010501	Limitation of knee mobility	54808	DYM	ORPHA:239
HP:0010501	Limitation of knee mobility	9499	MYOT	ORPHA:266
HP:0010501	Limitation of knee mobility	8291	DYSF	ORPHA:268
HP:0010501	Limitation of knee mobility	7415	VCP	ORPHA:435387
HP:0010501	Limitation of knee mobility	2318	FLNC	ORPHA:63273
HP:0010501	Limitation of knee mobility	2316	FLNA	OMIM:311300
HP:0010501	Limitation of knee mobility	9427	ECEL1	OMIM:615065
HP:0010501	Limitation of knee mobility	2131	EXT1	ORPHA:321
HP:0010501	Limitation of knee mobility	2132	EXT2	ORPHA:321
HP:0010501	Limitation of knee mobility	427	ASAH1	OMIM:228000
HP:0010501	Limitation of knee mobility	1861	TOR1A	OMIM:618947
HP:0010501	Limitation of knee mobility	649	BMP1	OMIM:614856
HP:0010501	Limitation of knee mobility	3081	HGD	OMIM:203500
HP:0010501	Limitation of knee mobility	1280	COL2A1	OMIM:183900
HP:0010501	Limitation of knee mobility	6885	MAP3K7	ORPHA:1826
HP:0001382	Joint hypermobility	6197	RPS6KA3	OMIM:303600
HP:0001382	Joint hypermobility	9791	PTDSS1	OMIM:151050
HP:0001382	Joint hypermobility	2245	FGD1	OMIM:305400
HP:0001382	Joint hypermobility	9759	HDAC4	OMIM:619797
HP:0001382	Joint hypermobility	3756	KCNH1	OMIM:135500
HP:0001382	Joint hypermobility	57479	PRR12	OMIM:619539
HP:0001382	Joint hypermobility	6611	SMS	OMIM:309583
HP:0001382	Joint hypermobility	673	BRAF	OMIM:115150
HP:0001382	Joint hypermobility	91461	PKDCC	OMIM:618821
HP:0001382	Joint hypermobility	9968	MED12	OMIM:309520
HP:0001382	Joint hypermobility	92344	GORAB	OMIM:231070
HP:0001382	Joint hypermobility	54499	TMCO1	OMIM:213980
HP:0001382	Joint hypermobility	387733	IFITM5	OMIM:610967
HP:0001382	Joint hypermobility	51633	OTUD6B	ORPHA:505237
HP:0001382	Joint hypermobility	23114	NFASC	OMIM:618356
HP:0001382	Joint hypermobility	1289	COL5A1	OMIM:130000
HP:0001382	Joint hypermobility	54872	PIGG	ORPHA:488635
HP:0001382	Joint hypermobility	1278	COL1A2	OMIM:617821
HP:0001382	Joint hypermobility	427	ASAH1	OMIM:228000
HP:0001382	Joint hypermobility	9373	PLAA	ORPHA:521426
HP:0001382	Joint hypermobility	2783	GNB2	OMIM:619503
HP:0001382	Joint hypermobility	3265	HRAS	OMIM:218040
HP:0001382	Joint hypermobility	2200	FBN1	OMIM:616914
HP:0001382	Joint hypermobility	121340	SP7	OMIM:613849
HP:0001382	Joint hypermobility	6535	SLC6A8	OMIM:300352
HP:0001382	Joint hypermobility	11253	MAN1B1	ORPHA:397941
HP:0001382	Joint hypermobility	11253	MAN1B1	OMIM:614202
HP:0001382	Joint hypermobility	8367	H4C5	OMIM:619950
HP:0001382	Joint hypermobility	8294	H4C9	OMIM:619951
HP:0001382	Joint hypermobility	10046	MAMLD1	ORPHA:456328
HP:0001382	Joint hypermobility	4534	MTM1	ORPHA:456328
HP:0001382	Joint hypermobility	6775	STAT4	ORPHA:85410
HP:0001382	Joint hypermobility	3560	IL2RB	ORPHA:85410
HP:0001382	Joint hypermobility	79722	ANKRD55	ORPHA:85410
HP:0001382	Joint hypermobility	26191	PTPN22	ORPHA:85410
HP:0001382	Joint hypermobility	919	CD247	ORPHA:85410
HP:0001382	Joint hypermobility	3559	IL2RA	ORPHA:85410
HP:0001382	Joint hypermobility	5771	PTPN2	ORPHA:85410
HP:0001382	Joint hypermobility	23135	KDM6B	OMIM:618505
HP:0001382	Joint hypermobility	7148	TNXB	ORPHA:230839
HP:0001382	Joint hypermobility	7148	TNXB	OMIM:615963
HP:0001382	Joint hypermobility	7148	TNXB	OMIM:606408
HP:0001382	Joint hypermobility	6938	TCF12	OMIM:619718
HP:0001382	Joint hypermobility	7355	SLC35A2	ORPHA:356961
HP:0001382	Joint hypermobility	1788	DNMT3A	ORPHA:404443
HP:0001382	Joint hypermobility	9578	CDC42BPB	OMIM:619841
HP:0001382	Joint hypermobility	64412	GZF1	OMIM:617662
HP:0001382	Joint hypermobility	283489	CHAMP1	OMIM:616579
HP:0001382	Joint hypermobility	55768	NGLY1	ORPHA:404454
HP:0001382	Joint hypermobility	7125	TNNC2	OMIM:620161
HP:0001382	Joint hypermobility	284058	KANSL1	ORPHA:363958
HP:0001382	Joint hypermobility	284058	KANSL1	ORPHA:363965
HP:0001382	Joint hypermobility	284058	KANSL1	OMIM:610443
HP:0001382	Joint hypermobility	54453	RIN2	OMIM:613075
HP:0001382	Joint hypermobility	54453	RIN2	ORPHA:217335
HP:0001382	Joint hypermobility	9739	SETD1A	OMIM:619056
HP:0001382	Joint hypermobility	815	CAMK2A	OMIM:617798
HP:0001382	Joint hypermobility	90993	CREB3L1	OMIM:616229
HP:0001382	Joint hypermobility	5238	PGM3	OMIM:615816
HP:0001382	Joint hypermobility	157680	VPS13B	OMIM:216550
HP:0001382	Joint hypermobility	222663	SCUBE3	OMIM:619184
HP:0001382	Joint hypermobility	23116	TOGARAM1	OMIM:619185
HP:0001382	Joint hypermobility	6872	TAF1	ORPHA:480907
HP:0001382	Joint hypermobility	6872	TAF1	OMIM:300966
HP:0001382	Joint hypermobility	84823	LMNB2	OMIM:619180
HP:0001382	Joint hypermobility	4763	NF1	ORPHA:363700
HP:0001382	Joint hypermobility	1303	COL12A1	OMIM:616470
HP:0001382	Joint hypermobility	1303	COL12A1	ORPHA:536516
HP:0001382	Joint hypermobility	1303	COL12A1	ORPHA:610
HP:0001382	Joint hypermobility	11107	PRDM5	OMIM:614170
HP:0001382	Joint hypermobility	6885	MAP3K7	OMIM:157800
HP:0001382	Joint hypermobility	57178	ZMIZ1	OMIM:618659
HP:0001382	Joint hypermobility	23545	ATP6V0A2	OMIM:278250
HP:0001382	Joint hypermobility	23545	ATP6V0A2	OMIM:219200
HP:0001382	Joint hypermobility	649	BMP1	OMIM:614856
HP:0001382	Joint hypermobility	26057	ANKRD17	OMIM:619504
HP:0001382	Joint hypermobility	526	ATP6V1B2	ORPHA:3473
HP:0001382	Joint hypermobility	3782	KCNN3	ORPHA:3473
HP:0001382	Joint hypermobility	165	AEBP1	ORPHA:536532
HP:0001382	Joint hypermobility	165	AEBP1	OMIM:618000
HP:0001382	Joint hypermobility	375	ARF1	ORPHA:98892
HP:0001382	Joint hypermobility	4131	MAP1B	ORPHA:98892
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:98892
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:555877
HP:0001382	Joint hypermobility	23327	NEDD4L	ORPHA:98892
HP:0001382	Joint hypermobility	160418	TMTC3	ORPHA:98892
HP:0001382	Joint hypermobility	10564	ARFGEF2	ORPHA:98892
HP:0001382	Joint hypermobility	55780	ERMARD	ORPHA:98892
HP:0001382	Joint hypermobility	5518	PPP2R1A	OMIM:616362
HP:0001382	Joint hypermobility	5518	PPP2R1A	ORPHA:457284
HP:0001382	Joint hypermobility	3572	IL6ST	OMIM:619752
HP:0001382	Joint hypermobility	7862	BRPF1	OMIM:617333
HP:0001382	Joint hypermobility	55699	IARS2	OMIM:616007
HP:0001382	Joint hypermobility	6023	RMRP	OMIM:250250
HP:0001382	Joint hypermobility	1280	COL2A1	OMIM:108300
HP:0001382	Joint hypermobility	4952	OCRL	OMIM:309000
HP:0001382	Joint hypermobility	22859	ADGRL1	OMIM:620065
HP:0001382	Joint hypermobility	283209	PGM2L1	OMIM:620191
HP:0001382	Joint hypermobility	78989	COLEC11	OMIM:265050
HP:0001382	Joint hypermobility	26137	ZBTB20	OMIM:259050
HP:0001382	Joint hypermobility	6774	STAT3	OMIM:147060
HP:0001382	Joint hypermobility	9321	TRIP11	OMIM:184260
HP:0001382	Joint hypermobility	7750	ZMYM2	OMIM:619522
HP:0001382	Joint hypermobility	53335	BCL11A	OMIM:617101
HP:0001382	Joint hypermobility	200424	TET3	OMIM:618798
HP:0001382	Joint hypermobility	5832	ALDH18A1	OMIM:219150
HP:0001382	Joint hypermobility	540	ATP7B	OMIM:277900
HP:0001382	Joint hypermobility	11128	POLR3A	ORPHA:3455
HP:0001382	Joint hypermobility	23314	SATB2	ORPHA:576283
HP:0001382	Joint hypermobility	11117	EMILIN1	OMIM:620080
HP:0001382	Joint hypermobility	6843	VAMP1	OMIM:618323
HP:0001382	Joint hypermobility	79989	IFT56	OMIM:619534
HP:0001382	Joint hypermobility	8565	YARS1	OMIM:619418
HP:0001382	Joint hypermobility	84168	ANTXR1	OMIM:230740
HP:0001382	Joint hypermobility	51227	PIGP	OMIM:617599
HP:0001382	Joint hypermobility	1387	CREBBP	OMIM:618332
HP:0001382	Joint hypermobility	1387	CREBBP	OMIM:180849
HP:0001382	Joint hypermobility	6261	RYR1	OMIM:619542
HP:0001382	Joint hypermobility	2033	EP300	OMIM:618333
HP:0001382	Joint hypermobility	2033	EP300	OMIM:180849
HP:0001382	Joint hypermobility	8621	CDK13	OMIM:617360
HP:0001382	Joint hypermobility	2702	GJA5	OMIM:612474
HP:0001382	Joint hypermobility	2703	GJA8	OMIM:612474
HP:0001382	Joint hypermobility	867	CBL	OMIM:613563
HP:0001382	Joint hypermobility	22907	DHX30	OMIM:617804
HP:0001382	Joint hypermobility	9949	AMMECR1	OMIM:300990
HP:0001382	Joint hypermobility	388015	RTL1	ORPHA:254531
HP:0001382	Joint hypermobility	388015	RTL1	ORPHA:96184
HP:0001382	Joint hypermobility	8788	DLK1	ORPHA:254531
HP:0001382	Joint hypermobility	8788	DLK1	ORPHA:96184
HP:0001382	Joint hypermobility	55384	MEG3	ORPHA:254531
HP:0001382	Joint hypermobility	55384	MEG3	ORPHA:96184
HP:0001382	Joint hypermobility	56896	DPYSL5	OMIM:619435
HP:0001382	Joint hypermobility	64116	SLC39A8	OMIM:616721
HP:0001382	Joint hypermobility	79912	PYROXD1	OMIM:617258
HP:0001382	Joint hypermobility	6418	SET	OMIM:618106
HP:0001382	Joint hypermobility	85358	SHANK3	OMIM:606232
HP:0001382	Joint hypermobility	23028	KDM1A	OMIM:616728
HP:0001382	Joint hypermobility	10516	FBLN5	OMIM:608895
HP:0001382	Joint hypermobility	50814	NSDHL	ORPHA:251383
HP:0001382	Joint hypermobility	50814	NSDHL	OMIM:300831
HP:0001382	Joint hypermobility	26115	TANC2	OMIM:618906
HP:0001382	Joint hypermobility	128869	PIGU	OMIM:618590
HP:0001382	Joint hypermobility	1301	COL11A1	OMIM:604841
HP:0001382	Joint hypermobility	4854	NOTCH3	OMIM:130720
HP:0001382	Joint hypermobility	6651	SON	OMIM:617140
HP:0001382	Joint hypermobility	6651	SON	ORPHA:500150
HP:0001382	Joint hypermobility	2782	GNB1	OMIM:616973
HP:0001382	Joint hypermobility	30008	EFEMP2	OMIM:614437
HP:0001382	Joint hypermobility	4041	LRP5	OMIM:259770
HP:0001382	Joint hypermobility	57551	TAOK1	OMIM:619575
HP:0001382	Joint hypermobility	22930	RAB3GAP1	OMIM:600118
HP:0001382	Joint hypermobility	537	ATP6AP1	OMIM:300972
HP:0001382	Joint hypermobility	1621	DBH	OMIM:223360
HP:0001382	Joint hypermobility	55033	FKBP14	ORPHA:300179
HP:0001382	Joint hypermobility	84068	SLC10A7	OMIM:618363
HP:0001382	Joint hypermobility	55603	TENT5A	OMIM:617952
HP:0001382	Joint hypermobility	5831	PYCR1	OMIM:612940
HP:0001382	Joint hypermobility	29920	PYCR2	ORPHA:481152
HP:0001382	Joint hypermobility	83987	CCDC8	OMIM:614205
HP:0001382	Joint hypermobility	9820	CUL7	OMIM:273750
HP:0001382	Joint hypermobility	7703	PCGF2	OMIM:618371
HP:0001382	Joint hypermobility	23111	SPART	ORPHA:101000
HP:0001382	Joint hypermobility	633	BGN	OMIM:300989
HP:0001382	Joint hypermobility	1822	ATN1	OMIM:618494
HP:0001382	Joint hypermobility	4015	LOX	OMIM:617168
HP:0001382	Joint hypermobility	25	ABL1	OMIM:617602
HP:0001382	Joint hypermobility	5000	ORC4	OMIM:613800
HP:0001382	Joint hypermobility	6304	SATB1	OMIM:619229
HP:0001382	Joint hypermobility	8883	NAE1	OMIM:620210
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:619115
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:166200
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:114000
HP:0001382	Joint hypermobility	716	C1S	OMIM:617174
HP:0001382	Joint hypermobility	134218	DNAJC21	OMIM:617052
HP:0001382	Joint hypermobility	10526	IPO8	OMIM:619472
HP:0001382	Joint hypermobility	10847	SRCAP	OMIM:619595
HP:0001382	Joint hypermobility	51604	PIGT	ORPHA:369837
HP:0001382	Joint hypermobility	80781	COL18A1	OMIM:267750
HP:0001382	Joint hypermobility	51360	MBTPS2	OMIM:301014
HP:0001382	Joint hypermobility	1457	CSNK2A1	OMIM:617062
HP:0001382	Joint hypermobility	23112	TNRC6B	OMIM:619243
HP:0001382	Joint hypermobility	10220	GDF11	OMIM:619122
HP:0001382	Joint hypermobility	5500	PPP1CB	OMIM:617506
HP:0001382	Joint hypermobility	54676	GTPBP2	OMIM:617988
HP:0001382	Joint hypermobility	1291	COL6A1	ORPHA:610
HP:0001382	Joint hypermobility	1292	COL6A2	ORPHA:610
HP:0001382	Joint hypermobility	1293	COL6A3	ORPHA:610
HP:0001382	Joint hypermobility	84905	ZNF341	OMIM:618282
HP:0001382	Joint hypermobility	6497	SKI	OMIM:182212
HP:0001382	Joint hypermobility	126792	B3GALT6	ORPHA:536467
HP:0001382	Joint hypermobility	1290	COL5A2	OMIM:130010
HP:0001382	Joint hypermobility	11014	KDELR2	OMIM:619131
HP:0001382	Joint hypermobility	55023	PHIP	OMIM:617991
HP:0001382	Joint hypermobility	2193	FARSA	OMIM:619013
HP:0001382	Joint hypermobility	1984	EIF5A	OMIM:619376
HP:0001382	Joint hypermobility	51780	KDM3B	OMIM:618846
HP:0001382	Joint hypermobility	10020	GNE	ORPHA:3166
HP:0001382	Joint hypermobility	8139	GAN	ORPHA:643
HP:0001382	Joint hypermobility	11011	TLK2	OMIM:618050
HP:0001382	Joint hypermobility	9469	CHST3	OMIM:245600
HP:0001382	Joint hypermobility	26229	B3GAT3	OMIM:245600
HP:0001382	Joint hypermobility	11141	IL1RAPL1	OMIM:300143
HP:0001382	Joint hypermobility	23309	SIN3B	ORPHA:500166
HP:0001382	Joint hypermobility	25942	SIN3A	ORPHA:500166
HP:0001382	Joint hypermobility	1806	DPYD	ORPHA:293948
HP:0001382	Joint hypermobility	7043	TGFB3	OMIM:615582
HP:0001382	Joint hypermobility	341208	HEPHL1	OMIM:261990
HP:0001382	Joint hypermobility	7471	WNT1	OMIM:615220
HP:0001382	Joint hypermobility	57728	WDR19	OMIM:614378
HP:0001382	Joint hypermobility	25871	NEPRO	OMIM:618853
HP:0001382	Joint hypermobility	11342	RNF13	ORPHA:544503
HP:0001382	Joint hypermobility	8085	KMT2D	OMIM:147920
HP:0001382	Joint hypermobility	7403	KDM6A	OMIM:147920
HP:0001382	Joint hypermobility	3373	HYAL1	OMIM:601492
HP:0001382	Joint hypermobility	1281	COL3A1	OMIM:130050
HP:0001382	Joint hypermobility	22827	PUF60	ORPHA:508498
HP:0001382	Joint hypermobility	89970	RSPRY1	ORPHA:457395
HP:0001382	Joint hypermobility	7337	UBE3A	ORPHA:238446
HP:0001382	Joint hypermobility	9871	SEC24D	ORPHA:2050
HP:0001382	Joint hypermobility	5034	P4HB	ORPHA:2050
HP:0001382	Joint hypermobility	1947	EFNB1	ORPHA:1520
HP:0001382	Joint hypermobility	23363	OBSL1	ORPHA:2616
HP:0001382	Joint hypermobility	2261	FGFR3	ORPHA:93274
HP:0001382	Joint hypermobility	2261	FGFR3	ORPHA:429
HP:0001382	Joint hypermobility	23118	TAB2	ORPHA:228410
HP:0001382	Joint hypermobility	613	BCR	ORPHA:261330
HP:0001382	Joint hypermobility	1399	CRKL	ORPHA:261330
HP:0001382	Joint hypermobility	5594	MAPK1	ORPHA:261330
HP:0001382	Joint hypermobility	5076	PAX2	ORPHA:1475
HP:0001382	Joint hypermobility	5744	PTHLH	ORPHA:93387
HP:0001382	Joint hypermobility	3239	HOXD13	ORPHA:93387
HP:0001382	Joint hypermobility	57539	WDR35	ORPHA:1515
HP:0001382	Joint hypermobility	112752	IFT43	ORPHA:1515
HP:0001382	Joint hypermobility	51098	IFT52	ORPHA:1515
HP:0001382	Joint hypermobility	55764	IFT122	ORPHA:1515
HP:0001382	Joint hypermobility	51114	ZDHHC9	ORPHA:776
HP:0001382	Joint hypermobility	65109	UPF3B	ORPHA:776
HP:0001382	Joint hypermobility	137492	VPS37A	ORPHA:319199
HP:0001382	Joint hypermobility	137492	VPS37A	OMIM:614898
HP:0001382	Joint hypermobility	715	C1R	ORPHA:75392
HP:0001382	Joint hypermobility	10484	SEC23A	ORPHA:50814
HP:0001382	Joint hypermobility	8200	GDF5	ORPHA:63442
HP:0001382	Joint hypermobility	9719	ADAMTSL2	ORPHA:1901
HP:0001382	Joint hypermobility	9509	ADAMTS2	ORPHA:1901
HP:0001382	Joint hypermobility	5351	PLOD1	ORPHA:1900
HP:0001382	Joint hypermobility	1312	COMT	ORPHA:567
HP:0001382	Joint hypermobility	221037	JMJD1C	ORPHA:567
HP:0001382	Joint hypermobility	2812	GP1BB	ORPHA:567
HP:0001382	Joint hypermobility	6239	RREB1	ORPHA:567
HP:0001382	Joint hypermobility	6899	TBX1	ORPHA:567
HP:0001382	Joint hypermobility	7290	HIRA	ORPHA:567
HP:0001382	Joint hypermobility	9632	SEC24C	ORPHA:567
HP:0001382	Joint hypermobility	7353	UFD1	ORPHA:567
HP:0001382	Joint hypermobility	421	ARVCF	ORPHA:567
HP:0001382	Joint hypermobility	81620	CDT1	ORPHA:2554
HP:0001382	Joint hypermobility	23594	ORC6	ORPHA:2554
HP:0001382	Joint hypermobility	8318	CDC45	ORPHA:2554
HP:0001382	Joint hypermobility	990	CDC6	ORPHA:2554
HP:0001382	Joint hypermobility	4998	ORC1	ORPHA:2554
HP:0001382	Joint hypermobility	51053	GMNN	ORPHA:2554
HP:0001382	Joint hypermobility	64093	SMOC1	ORPHA:1106
HP:0001382	Joint hypermobility	538	ATP7A	ORPHA:565
HP:0001382	Joint hypermobility	538	ATP7A	ORPHA:198
HP:0001382	Joint hypermobility	4784	NFIX	ORPHA:561
HP:0001382	Joint hypermobility	1501	CTNND2	ORPHA:281
HP:0001382	Joint hypermobility	9037	SEMA5A	ORPHA:281
HP:0001382	Joint hypermobility	5062	PAK2	ORPHA:1571
HP:0001382	Joint hypermobility	64132	XYLT2	ORPHA:85194
HP:0001382	Joint hypermobility	3930	LBR	OMIM:618019
HP:0001382	Joint hypermobility	4853	NOTCH2	ORPHA:955
HP:0001382	Joint hypermobility	9361	LONP1	ORPHA:1458
HP:0001382	Joint hypermobility	11285	B4GALT7	ORPHA:75496
HP:0001382	Joint hypermobility	3981	LIG4	ORPHA:235
HP:0001382	Joint hypermobility	54888	NSUN2	ORPHA:235
HP:0001382	Joint hypermobility	5290	PIK3CA	ORPHA:60040
HP:0001382	Joint hypermobility	6804	STX1A	ORPHA:904
HP:0001382	Joint hypermobility	7461	CLIP2	ORPHA:904
HP:0001382	Joint hypermobility	84277	DNAJC30	ORPHA:904
HP:0001382	Joint hypermobility	8468	FKBP6	ORPHA:904
HP:0001382	Joint hypermobility	5982	RFC2	ORPHA:904
HP:0001382	Joint hypermobility	2969	GTF2I	ORPHA:904
HP:0001382	Joint hypermobility	3984	LIMK1	ORPHA:904
HP:0001382	Joint hypermobility	9569	GTF2IRD1	ORPHA:904
HP:0001382	Joint hypermobility	155382	VPS37D	ORPHA:904
HP:0001382	Joint hypermobility	155368	METTL27	ORPHA:904
HP:0001382	Joint hypermobility	114049	BUD23	ORPHA:904
HP:0001382	Joint hypermobility	7458	EIF4H	ORPHA:904
HP:0001382	Joint hypermobility	84163	GTF2IRD2	ORPHA:904
HP:0001382	Joint hypermobility	9275	BCL7B	ORPHA:904
HP:0001382	Joint hypermobility	26608	TBL2	ORPHA:904
HP:0001382	Joint hypermobility	653361	NCF1	ORPHA:904
HP:0001382	Joint hypermobility	135886	TMEM270	ORPHA:904
HP:0001382	Joint hypermobility	51085	MLXIPL	ORPHA:904
HP:0001382	Joint hypermobility	9031	BAZ1B	ORPHA:904
HP:0001382	Joint hypermobility	2006	ELN	ORPHA:904
HP:0001382	Joint hypermobility	5728	PTEN	ORPHA:109
HP:0001382	Joint hypermobility	81031	SLC2A10	ORPHA:3342
HP:0001382	Joint hypermobility	1836	SLC26A2	ORPHA:628
HP:0001382	Joint hypermobility	6928	HNF1B	ORPHA:93111
HP:0001382	Joint hypermobility	8936	WASF1	OMIM:618707
HP:0001382	Joint hypermobility	2317	FLNB	ORPHA:503
HP:0001382	Joint hypermobility	2131	EXT1	ORPHA:502
HP:0001382	Joint hypermobility	7227	TRPS1	ORPHA:502
HP:0001382	Joint hypermobility	8450	CUL4B	ORPHA:85293
HP:0001382	Joint hypermobility	84627	ZNF469	ORPHA:90354
HP:0001382	Joint hypermobility	5295	PIK3R1	ORPHA:3163
HP:0001382	Joint hypermobility	4000	LMNA	ORPHA:157973
HP:0001382	Joint hypermobility	10479	SLC9A6	ORPHA:85278
HP:0001382	Joint hypermobility	23483	TGDS	ORPHA:1388
HP:0001382	Joint hypermobility	5116	PCNT	ORPHA:2637
HP:0001382	Joint hypermobility	5116	PCNT	ORPHA:808
HP:0001382	Joint hypermobility	545	ATR	ORPHA:808
HP:0001382	Joint hypermobility	1062	CENPE	ORPHA:808
HP:0001382	Joint hypermobility	5932	RBBP8	ORPHA:808
HP:0001382	Joint hypermobility	79902	NUP85	ORPHA:808
HP:0001382	Joint hypermobility	84126	ATRIP	ORPHA:808
HP:0001382	Joint hypermobility	55835	CENPJ	ORPHA:808
HP:0001382	Joint hypermobility	10293	TRAIP	ORPHA:808
HP:0001382	Joint hypermobility	22995	CEP152	ORPHA:808
HP:0001382	Joint hypermobility	10733	PLK4	ORPHA:808
HP:0001382	Joint hypermobility	22800	RRAS2	ORPHA:648
HP:0001382	Joint hypermobility	8216	LZTR1	ORPHA:648
HP:0001382	Joint hypermobility	6016	RIT1	ORPHA:648
HP:0001382	Joint hypermobility	6237	RRAS	ORPHA:648
HP:0001382	Joint hypermobility	5894	RAF1	ORPHA:648
HP:0001382	Joint hypermobility	22808	MRAS	ORPHA:648
HP:0001382	Joint hypermobility	3845	KRAS	ORPHA:648
HP:0001382	Joint hypermobility	200734	SPRED2	ORPHA:648
HP:0001382	Joint hypermobility	4893	NRAS	ORPHA:648
HP:0001382	Joint hypermobility	6654	SOS1	ORPHA:648
HP:0001382	Joint hypermobility	6655	SOS2	ORPHA:648
HP:0001382	Joint hypermobility	5781	PTPN11	ORPHA:648
HP:0001382	Joint hypermobility	5922	RASA2	ORPHA:648
HP:0001382	Joint hypermobility	4882	NPR2	ORPHA:40
HP:0001382	Joint hypermobility	23522	KAT6B	ORPHA:3047
HP:0001382	Joint hypermobility	84295	PHF6	ORPHA:127
HP:0001382	Joint hypermobility	64131	XYLT1	ORPHA:1425
HP:0001382	Joint hypermobility	124583	CANT1	ORPHA:1425
HP:0001382	Joint hypermobility	55790	CSGALNACT1	ORPHA:1425
HP:0001382	Joint hypermobility	64324	NSD1	ORPHA:3447
HP:0001382	Joint hypermobility	8726	EED	ORPHA:3447
HP:0001382	Joint hypermobility	23512	SUZ12	ORPHA:3447
HP:0001382	Joint hypermobility	2146	EZH2	ORPHA:3447
HP:0001382	Joint hypermobility	5727	PTCH1	ORPHA:77301
HP:0001382	Joint hypermobility	7046	TGFBR1	ORPHA:60030
HP:0001382	Joint hypermobility	7048	TGFBR2	ORPHA:60030
HP:0001382	Joint hypermobility	1297	COL9A1	ORPHA:250984
HP:0001382	Joint hypermobility	1298	COL9A2	ORPHA:250984
HP:0001382	Joint hypermobility	1299	COL9A3	ORPHA:250984
HP:0001382	Joint hypermobility	84695	LOXL3	ORPHA:250984
HP:0001382	Joint hypermobility	5167	ENPP1	ORPHA:758
HP:0001382	Joint hypermobility	368	ABCC6	ORPHA:758
HP:0001382	Joint hypermobility	7042	TGFB2	OMIM:614816
HP:0001382	Joint hypermobility	8239	USP9X	ORPHA:480880
HP:0001382	Joint hypermobility	7528	YY1	ORPHA:506358
HP:0001382	Joint hypermobility	7528	YY1	OMIM:617557
HP:0001382	Joint hypermobility	54681	P4HTM	OMIM:618493
HP:0001382	Joint hypermobility	128674	PROKR2	OMIM:244200
HP:0001382	Joint hypermobility	22861	NLRP1	OMIM:615225
HP:0001382	Joint hypermobility	25782	RAB3GAP2	OMIM:212720
HP:0001382	Joint hypermobility	9427	ECEL1	OMIM:615065
HP:0001382	Joint hypermobility	23261	CAMTA1	OMIM:614756
HP:0001382	Joint hypermobility	4297	KMT2A	ORPHA:319182
HP:0001382	Joint hypermobility	1311	COMP	ORPHA:750
HP:0001382	Joint hypermobility	1311	COMP	ORPHA:93308
HP:0001382	Joint hypermobility	4010	LMX1B	ORPHA:2614
HP:0001382	Joint hypermobility	4210	MEFV	ORPHA:329967
HP:0001382	Joint hypermobility	7132	TNFRSF1A	ORPHA:329967
HP:0005035	Shortening of all phalanges of the toes	5281	PIGF	OMIM:619356
HP:0005035	Shortening of all phalanges of the toes	9241	NOG	ORPHA:140908
HP:0005035	Shortening of all phalanges of the toes	415	ARSL	ORPHA:79345
HP:0005035	Shortening of all phalanges of the toes	3756	KCNH1	OMIM:135500
HP:0005035	Shortening of all phalanges of the toes	6662	SOX9	OMIM:114290
HP:0005035	Shortening of all phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0005035	Shortening of all phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0005035	Shortening of all phalanges of the toes	59341	TRPV4	ORPHA:85169
HP:0005037	Proximal radio-ulnar synostosis	7291	TWIST1	ORPHA:794
HP:0005037	Proximal radio-ulnar synostosis	2263	FGFR2	ORPHA:794
HP:0005037	Proximal radio-ulnar synostosis	2261	FGFR3	ORPHA:794
HP:0005037	Proximal radio-ulnar synostosis	3207	HOXA11	OMIM:605432
HP:0005037	Proximal radio-ulnar synostosis	126792	B3GALT6	OMIM:609465
HP:0005037	Proximal radio-ulnar synostosis	22856	CHSY1	ORPHA:363417
HP:0005039	Multiple long-bone exostoses	2131	EXT1	ORPHA:502
HP:0005039	Multiple long-bone exostoses	7227	TRPS1	ORPHA:502
HP:0025473	Hyperpigmented papule	2316	FLNA	ORPHA:88630
HP:0025473	Hyperpigmented papule	56983	POGLUT1	ORPHA:79145
HP:0025473	Hyperpigmented papule	3852	KRT5	ORPHA:79145
HP:0025473	Hyperpigmented papule	23509	POFUT1	ORPHA:79145
HP:0025473	Hyperpigmented papule	55851	PSENEN	ORPHA:79145
HP:0025473	Hyperpigmented papule	3815	KIT	ORPHA:79455
HP:0025473	Hyperpigmented papule	3417	IDH1	ORPHA:99646
HP:0025474	Erythematous plaque	3939	LDHA	ORPHA:284426
HP:0025474	Erythematous plaque	3858	KRT10	OMIM:607602
HP:0025474	Erythematous plaque	84868	HAVCR2	ORPHA:86884
HP:0025474	Erythematous plaque	79092	CARD14	OMIM:173200
HP:0025474	Erythematous plaque	5921	RASA1	ORPHA:90307
HP:0025474	Erythematous plaque	4210	MEFV	ORPHA:3243
HP:0025474	Erythematous plaque	9526	MPDU1	ORPHA:79323
HP:0025474	Erythematous plaque	1280	COL2A1	ORPHA:485
HP:0025474	Erythematous plaque	54795	TRPM4	OMIM:618531
HP:0025474	Erythematous plaque	1294	COL7A1	ORPHA:158673
HP:0025474	Erythematous plaque	10682	EBP	ORPHA:35173
HP:0025474	Erythematous plaque	6392	SDHD	ORPHA:100093
HP:0025475	Erythematous macule	5580	PRKCD	OMIM:615559
HP:0025477	Periarticular calcification	8838	CCN6	ORPHA:1159
HP:0025477	Periarticular calcification	4907	NT5E	OMIM:211800
HP:0025477	Periarticular calcification	5167	ENPP1	ORPHA:51608
HP:0025477	Periarticular calcification	5167	ENPP1	OMIM:208000
HP:0025477	Periarticular calcification	368	ABCC6	ORPHA:51608
HP:0025478	Atrial standstill	6331	SCN5A	OMIM:601154
HP:0025478	Atrial standstill	6331	SCN5A	ORPHA:1344
HP:0025478	Atrial standstill	4878	NPPA	ORPHA:1344
HP:0025478	Atrial standstill	4878	NPPA	OMIM:615745
HP:0025478	Atrial standstill	2702	GJA5	OMIM:108770
HP:0025478	Atrial standstill	6262	RYR2	OMIM:604772
HP:0025478	Atrial standstill	845	CASQ2	OMIM:604772
HP:0025478	Atrial standstill	10345	TRDN	OMIM:604772
HP:0025479	Self-neglect	23230	VPS13A	ORPHA:2388
HP:0005041	Irregular capital femoral epiphysis	1297	COL9A1	OMIM:614134
HP:0005041	Irregular capital femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0005041	Irregular capital femoral epiphysis	59341	TRPV4	OMIM:184252
HP:0005041	Irregular capital femoral epiphysis	100151683	RNU4ATAC	ORPHA:353298
HP:0005041	Irregular capital femoral epiphysis	9719	ADAMTSL2	OMIM:231050
HP:0005041	Irregular capital femoral epiphysis	5830	PEX5	OMIM:616716
HP:0005042	Irregular, rachitic-like metaphyses	59341	TRPV4	OMIM:184252
HP:0005042	Irregular, rachitic-like metaphyses	1594	CYP27B1	ORPHA:289157
HP:0005042	Irregular, rachitic-like metaphyses	120227	CYP2R1	ORPHA:289157
HP:0005045	Diaphyseal cortical sclerosis	203859	ANO5	OMIM:166260
HP:0005045	Diaphyseal cortical sclerosis	4507	MTAP	OMIM:112250
HP:0005048	Synostosis of carpal bones	8200	GDF5	ORPHA:2639
HP:0005048	Synostosis of carpal bones	8200	GDF5	ORPHA:2098
HP:0005048	Synostosis of carpal bones	8200	GDF5	ORPHA:3250
HP:0005048	Synostosis of carpal bones	658	BMPR1B	ORPHA:2639
HP:0005048	Synostosis of carpal bones	658	BMPR1B	ORPHA:2098
HP:0005048	Synostosis of carpal bones	64359	NXN	ORPHA:1507
HP:0005048	Synostosis of carpal bones	4920	ROR2	ORPHA:1507
HP:0005048	Synostosis of carpal bones	64327	LMBR1	ORPHA:988
HP:0005048	Synostosis of carpal bones	6469	SHH	ORPHA:988
HP:0005048	Synostosis of carpal bones	157570	ESCO2	ORPHA:3103
HP:0005048	Synostosis of carpal bones	3209	HOXA13	ORPHA:2438
HP:0005048	Synostosis of carpal bones	64093	SMOC1	ORPHA:1106
HP:0005048	Synostosis of carpal bones	5566	PRKACA	ORPHA:289
HP:0005048	Synostosis of carpal bones	5567	PRKACB	ORPHA:289
HP:0005048	Synostosis of carpal bones	2735	GLI1	ORPHA:289
HP:0005048	Synostosis of carpal bones	2121	EVC	ORPHA:289
HP:0005048	Synostosis of carpal bones	51626	DYNC2LI1	ORPHA:289
HP:0005048	Synostosis of carpal bones	132884	EVC2	ORPHA:289
HP:0005048	Synostosis of carpal bones	727857	BHLHA9	ORPHA:157801
HP:0005048	Synostosis of carpal bones	9241	NOG	ORPHA:3250
HP:0005048	Synostosis of carpal bones	9241	NOG	ORPHA:140908
HP:0005048	Synostosis of carpal bones	9555	MACROH2A1	ORPHA:1275
HP:0005048	Synostosis of carpal bones	5307	PITX1	ORPHA:1275
HP:0005048	Synostosis of carpal bones	2316	FLNA	OMIM:311300
HP:0005048	Synostosis of carpal bones	2316	FLNA	ORPHA:90650
HP:0005048	Synostosis of carpal bones	2316	FLNA	ORPHA:90652
HP:0005048	Synostosis of carpal bones	57167	SALL4	ORPHA:2307
HP:0005048	Synostosis of carpal bones	4038	LRP4	ORPHA:3258
HP:0005048	Synostosis of carpal bones	324	APC	ORPHA:3258
HP:0005048	Synostosis of carpal bones	5077	PAX3	ORPHA:896
HP:0005048	Synostosis of carpal bones	2263	FGFR2	OMIM:101200
HP:0005048	Synostosis of carpal bones	6885	MAP3K7	ORPHA:3238
HP:0009826	Limb undergrowth	2261	FGFR3	OMIM:187601
HP:0009826	Limb undergrowth	2261	FGFR3	ORPHA:93274
HP:0009826	Limb undergrowth	2261	FGFR3	ORPHA:429
HP:0009826	Limb undergrowth	2261	FGFR3	ORPHA:1860
HP:0009826	Limb undergrowth	5573	PRKAR1A	ORPHA:950
HP:0009826	Limb undergrowth	5144	PDE4D	ORPHA:950
HP:0009826	Limb undergrowth	4921	DDR2	OMIM:271665
HP:0009826	Limb undergrowth	176	ACAN	ORPHA:93283
HP:0009826	Limb undergrowth	65992	DDRGK1	OMIM:602557
HP:0009826	Limb undergrowth	28981	IFT81	OMIM:617895
HP:0009826	Limb undergrowth	100151683	RNU4ATAC	OMIM:210710
HP:0009826	Limb undergrowth	100151683	RNU4ATAC	ORPHA:2636
HP:0009826	Limb undergrowth	9820	CUL7	ORPHA:2616
HP:0009826	Limb undergrowth	23363	OBSL1	ORPHA:2616
HP:0009826	Limb undergrowth	83987	CCDC8	ORPHA:2616
HP:0009826	Limb undergrowth	145173	B3GLCT	ORPHA:709
HP:0009826	Limb undergrowth	118429	ANTXR2	ORPHA:2176
HP:0009826	Limb undergrowth	55733	HHAT	OMIM:600092
HP:0009826	Limb undergrowth	55733	HHAT	ORPHA:1422
HP:0009826	Limb undergrowth	3636	INPPL1	ORPHA:3144
HP:0009826	Limb undergrowth	23169	SLC35D1	ORPHA:3144
HP:0009826	Limb undergrowth	5745	PTH1R	OMIM:215045
HP:0009826	Limb undergrowth	5745	PTH1R	ORPHA:296
HP:0009826	Limb undergrowth	1836	SLC26A2	ORPHA:56304
HP:0009826	Limb undergrowth	1836	SLC26A2	OMIM:600972
HP:0009826	Limb undergrowth	1836	SLC26A2	ORPHA:628
HP:0009826	Limb undergrowth	1836	SLC26A2	OMIM:256050
HP:0009826	Limb undergrowth	1836	SLC26A2	ORPHA:93298
HP:0009826	Limb undergrowth	55112	DYNC2I1	ORPHA:93271
HP:0009826	Limb undergrowth	55112	DYNC2I1	ORPHA:474
HP:0009826	Limb undergrowth	57560	IFT80	ORPHA:93271
HP:0009826	Limb undergrowth	57560	IFT80	ORPHA:474
HP:0009826	Limb undergrowth	57539	WDR35	ORPHA:93271
HP:0009826	Limb undergrowth	57539	WDR35	OMIM:614091
HP:0009826	Limb undergrowth	79659	DYNC2H1	ORPHA:93271
HP:0009826	Limb undergrowth	79659	DYNC2H1	ORPHA:474
HP:0009826	Limb undergrowth	89891	DYNC2I2	ORPHA:93271
HP:0009826	Limb undergrowth	89891	DYNC2I2	ORPHA:474
HP:0009826	Limb undergrowth	249	ALPL	OMIM:241500
HP:0009826	Limb undergrowth	55790	CSGALNACT1	OMIM:618870
HP:0009826	Limb undergrowth	22858	CILK1	OMIM:612651
HP:0009826	Limb undergrowth	10225	CD96	OMIM:211750
HP:0009826	Limb undergrowth	10225	CD96	ORPHA:1308
HP:0009826	Limb undergrowth	4038	LRP4	ORPHA:3258
HP:0009826	Limb undergrowth	324	APC	ORPHA:3258
HP:0009826	Limb undergrowth	56975	FAM20C	OMIM:259775
HP:0009826	Limb undergrowth	2263	FGFR2	ORPHA:87
HP:0009826	Limb undergrowth	3418	IDH2	ORPHA:296
HP:0009826	Limb undergrowth	3417	IDH1	ORPHA:296
HP:0009826	Limb undergrowth	6023	RMRP	ORPHA:175
HP:0009826	Limb undergrowth	4318	MMP9	OMIM:613073
HP:0009826	Limb undergrowth	3549	IHH	ORPHA:63446
HP:0009826	Limb undergrowth	3549	IHH	OMIM:607778
HP:0009826	Limb undergrowth	3339	HSPG2	ORPHA:1865
HP:0009826	Limb undergrowth	3339	HSPG2	OMIM:224410
HP:0009826	Limb undergrowth	3339	HSPG2	OMIM:255800
HP:0009826	Limb undergrowth	3339	HSPG2	ORPHA:800
HP:0009826	Limb undergrowth	60	ACTB	ORPHA:79107
HP:0009826	Limb undergrowth	60	ACTB	ORPHA:64755
HP:0009826	Limb undergrowth	22827	PUF60	ORPHA:508488
HP:0009826	Limb undergrowth	1717	DHCR7	OMIM:270400
HP:0009826	Limb undergrowth	5566	PRKACA	ORPHA:289
HP:0009826	Limb undergrowth	5567	PRKACB	ORPHA:289
HP:0009826	Limb undergrowth	2735	GLI1	ORPHA:289
HP:0009826	Limb undergrowth	2121	EVC	ORPHA:289
HP:0009826	Limb undergrowth	51626	DYNC2LI1	ORPHA:289
HP:0009826	Limb undergrowth	51626	DYNC2LI1	ORPHA:474
HP:0009826	Limb undergrowth	132884	EVC2	ORPHA:289
HP:0009826	Limb undergrowth	2752	GLUL	OMIM:610015
HP:0009826	Limb undergrowth	1301	COL11A1	ORPHA:2021
HP:0009826	Limb undergrowth	1301	COL11A1	ORPHA:440354
HP:0009826	Limb undergrowth	1302	COL11A2	ORPHA:2021
HP:0009826	Limb undergrowth	29980	DONSON	OMIM:251230
HP:0009826	Limb undergrowth	26227	PHGDH	OMIM:256520
HP:0009826	Limb undergrowth	23476	BRD4	ORPHA:199
HP:0009826	Limb undergrowth	9126	SMC3	ORPHA:199
HP:0009826	Limb undergrowth	8243	SMC1A	ORPHA:199
HP:0009826	Limb undergrowth	25836	NIPBL	ORPHA:199
HP:0009826	Limb undergrowth	25836	NIPBL	OMIM:122470
HP:0009826	Limb undergrowth	55869	HDAC8	ORPHA:199
HP:0009826	Limb undergrowth	5885	RAD21	ORPHA:199
HP:0009826	Limb undergrowth	26160	IFT172	ORPHA:474
HP:0009826	Limb undergrowth	153241	CEP120	ORPHA:474
HP:0009826	Limb undergrowth	9742	IFT140	ORPHA:474
HP:0009826	Limb undergrowth	57728	WDR19	ORPHA:474
HP:0009826	Limb undergrowth	79809	TTC21B	ORPHA:474
HP:0009826	Limb undergrowth	9321	TRIP11	ORPHA:166272
HP:0009826	Limb undergrowth	9321	TRIP11	OMIM:184260
HP:0009826	Limb undergrowth	9321	TRIP11	OMIM:200600
HP:0009826	Limb undergrowth	9321	TRIP11	ORPHA:93299
HP:0009826	Limb undergrowth	1280	COL2A1	OMIM:151210
HP:0009826	Limb undergrowth	1280	COL2A1	ORPHA:85166
HP:0009826	Limb undergrowth	1280	COL2A1	ORPHA:93296
HP:0009826	Limb undergrowth	1857	DVL3	ORPHA:3107
HP:0009826	Limb undergrowth	7474	WNT5A	ORPHA:3107
HP:0009826	Limb undergrowth	1855	DVL1	ORPHA:3107
HP:0009826	Limb undergrowth	2535	FZD2	ORPHA:3107
HP:0009826	Limb undergrowth	6608	SMO	OMIM:241800
HP:0009826	Limb undergrowth	8200	GDF5	ORPHA:2098
HP:0009826	Limb undergrowth	8200	GDF5	ORPHA:2639
HP:0009826	Limb undergrowth	658	BMPR1B	ORPHA:2098
HP:0009826	Limb undergrowth	658	BMPR1B	ORPHA:2639
HP:0009826	Limb undergrowth	4148	MATN3	OMIM:608728
HP:0009826	Limb undergrowth	1718	DHCR24	ORPHA:35107
HP:0009826	Limb undergrowth	112752	IFT43	OMIM:617866
HP:0009826	Limb undergrowth	1806	DPYD	ORPHA:1675
HP:0009826	Limb undergrowth	1028	CDKN1C	ORPHA:85173
HP:0009826	Limb undergrowth	5426	POLE	ORPHA:85173
HP:0009826	Limb undergrowth	3930	LBR	OMIM:215140
HP:0009826	Limb undergrowth	3930	LBR	ORPHA:1426
HP:0009826	Limb undergrowth	9786	KIAA0586	OMIM:616546
HP:0009826	Limb undergrowth	3977	LIFR	ORPHA:3206
HP:0009826	Limb undergrowth	59341	TRPV4	ORPHA:2635
HP:0009826	Limb undergrowth	10491	CRTAP	OMIM:610682
HP:0009826	Limb undergrowth	7476	WNT7A	ORPHA:2879
HP:0009826	Limb undergrowth	5116	PCNT	ORPHA:2637
HP:0009826	Limb undergrowth	51594	NBAS	OMIM:614800
HP:0009826	Limb undergrowth	2317	FLNB	ORPHA:1263
HP:0009826	Limb undergrowth	26123	TCTN3	ORPHA:2753
HP:0009826	Limb undergrowth	10082	GPC6	ORPHA:93329
HP:0009826	Limb undergrowth	51025	PAM16	OMIM:613320
HP:0009826	Limb undergrowth	219844	HYLS1	ORPHA:2189
HP:0009826	Limb undergrowth	374654	KIF7	ORPHA:2189
HP:0009826	Limb undergrowth	871	SERPINH1	OMIM:613848
HP:0009826	Limb undergrowth	9935	MAFB	ORPHA:233
HP:0009826	Limb undergrowth	1123	CHN1	ORPHA:233
HP:0009826	Limb undergrowth	10262	SF3B4	OMIM:154400
HP:0009826	Limb undergrowth	10262	SF3B4	ORPHA:245
HP:0009826	Limb undergrowth	92002	CCNQ	ORPHA:140952
HP:0009826	Limb undergrowth	2255	FGF10	ORPHA:2363
HP:0009826	Limb undergrowth	6223	RPS19	OMIM:105650
HP:0009826	Limb undergrowth	6154	RPL26	OMIM:614900
HP:0009826	Limb undergrowth	23233	EXOC6B	OMIM:618395
HP:0009826	Limb undergrowth	1723	DHODH	OMIM:263750
HP:0009826	Limb undergrowth	1723	DHODH	ORPHA:246
HP:0009826	Limb undergrowth	182	JAG1	OMIM:118450
HP:0009826	Limb undergrowth	57020	VPS35L	OMIM:619135
HP:0009826	Limb undergrowth	672	BRCA1	ORPHA:84
HP:0009826	Limb undergrowth	10459	MAD2L2	ORPHA:84
HP:0009826	Limb undergrowth	7516	XRCC2	ORPHA:84
HP:0009826	Limb undergrowth	29089	UBE2T	ORPHA:84
HP:0009826	Limb undergrowth	675	BRCA2	ORPHA:84
HP:0009826	Limb undergrowth	55120	FANCL	ORPHA:84
HP:0009826	Limb undergrowth	2177	FANCD2	ORPHA:84
HP:0009826	Limb undergrowth	2175	FANCA	ORPHA:84
HP:0009826	Limb undergrowth	2187	FANCB	ORPHA:84
HP:0009826	Limb undergrowth	2176	FANCC	ORPHA:84
HP:0009826	Limb undergrowth	2178	FANCE	ORPHA:84
HP:0009826	Limb undergrowth	2188	FANCF	ORPHA:84
HP:0009826	Limb undergrowth	2189	FANCG	ORPHA:84
HP:0009826	Limb undergrowth	5888	RAD51	ORPHA:84
HP:0009826	Limb undergrowth	5889	RAD51C	ORPHA:84
HP:0009826	Limb undergrowth	55159	RFWD3	ORPHA:84
HP:0009826	Limb undergrowth	83990	BRIP1	ORPHA:84
HP:0009826	Limb undergrowth	57697	FANCM	ORPHA:84
HP:0009826	Limb undergrowth	79728	PALB2	ORPHA:84
HP:0009826	Limb undergrowth	84464	SLX4	ORPHA:84
HP:0009826	Limb undergrowth	2072	ERCC4	ORPHA:84
HP:0009826	Limb undergrowth	55215	FANCI	ORPHA:84
HP:0009826	Limb undergrowth	6910	TBX5	OMIM:142900
HP:0009826	Limb undergrowth	6926	TBX3	OMIM:181450
HP:0009826	Limb undergrowth	567	B2M	OMIM:241600
HP:0009826	Limb undergrowth	55636	CHD7	OMIM:214800
HP:0009826	Limb undergrowth	3899	AFF3	OMIM:619297
HP:0009826	Limb undergrowth	64359	NXN	OMIM:618529
HP:0009826	Limb undergrowth	64359	NXN	ORPHA:1507
HP:0009826	Limb undergrowth	2737	GLI3	OMIM:146510
HP:0009826	Limb undergrowth	4882	NPR2	OMIM:602875
HP:0009826	Limb undergrowth	4882	NPR2	ORPHA:40
HP:0009826	Limb undergrowth	56992	KIF15	ORPHA:261323
HP:0009826	Limb undergrowth	5879	RAC1	ORPHA:500159
HP:0009826	Limb undergrowth	55768	NGLY1	ORPHA:404454
HP:0009826	Limb undergrowth	4920	ROR2	OMIM:268310
HP:0009826	Limb undergrowth	2316	FLNA	OMIM:300244
HP:0009826	Limb undergrowth	9775	EIF4A3	OMIM:268305
HP:0009826	Limb undergrowth	157570	ESCO2	ORPHA:3103
HP:0009826	Limb undergrowth	171023	ASXL1	OMIM:605039
HP:0009826	Limb undergrowth	91179	SCARF2	OMIM:600920
HP:0009826	Limb undergrowth	9939	RBM8A	OMIM:274000
HP:0009826	Limb undergrowth	23394	ADNP	OMIM:615873
HP:0009826	Limb undergrowth	5479	PPIB	OMIM:259440
HP:0009826	Limb undergrowth	3911	LAMA5	OMIM:620076
HP:0009826	Limb undergrowth	2767	GNA11	ORPHA:1556
HP:0009826	Limb undergrowth	151188	ARL6IP6	ORPHA:1556
HP:0009826	Limb undergrowth	545	ATR	OMIM:210600
HP:0009826	Limb undergrowth	27125	AFF4	ORPHA:444077
HP:0009826	Limb undergrowth	8241	RBM10	ORPHA:2886
HP:0009826	Limb undergrowth	10586	MAB21L2	OMIM:615877
HP:0009826	Limb undergrowth	755	CFAP410	OMIM:602271
HP:0009826	Limb undergrowth	8540	AGPS	OMIM:600121
HP:0009826	Limb undergrowth	8443	GNPAT	OMIM:222765
HP:0009826	Limb undergrowth	8942	KYNU	OMIM:617661
HP:0009826	Limb undergrowth	114803	MYSM1	OMIM:618116
HP:0009826	Limb undergrowth	51098	IFT52	ORPHA:1515
HP:0009826	Limb undergrowth	55764	IFT122	ORPHA:1515
HP:0009826	Limb undergrowth	55764	IFT122	OMIM:218330
HP:0009826	Limb undergrowth	9382	COG1	OMIM:611209
HP:0009826	Limb undergrowth	9382	COG1	ORPHA:263508
HP:0009826	Limb undergrowth	9469	CHST3	ORPHA:263463
HP:0009826	Limb undergrowth	9469	CHST3	OMIM:143095
HP:0009826	Limb undergrowth	9469	CHST3	OMIM:245600
HP:0009826	Limb undergrowth	90993	CREB3L1	OMIM:616229
HP:0009826	Limb undergrowth	5191	PEX7	OMIM:215100
HP:0009826	Limb undergrowth	79087	ALG12	OMIM:607143
HP:0009826	Limb undergrowth	372	ARCN1	OMIM:617164
HP:0009826	Limb undergrowth	10013	HDAC6	OMIM:300863
HP:0009826	Limb undergrowth	10013	HDAC6	ORPHA:163966
HP:0009826	Limb undergrowth	4297	KMT2A	ORPHA:319182
HP:0009826	Limb undergrowth	2475	MTOR	OMIM:616638
HP:0009826	Limb undergrowth	4322	MMP13	OMIM:602111
HP:0009826	Limb undergrowth	5593	PRKG2	OMIM:619638
HP:0009826	Limb undergrowth	5593	PRKG2	OMIM:619636
HP:0009826	Limb undergrowth	91461	PKDCC	OMIM:618821
HP:0009826	Limb undergrowth	4796	TONSL	ORPHA:93357
HP:0009826	Limb undergrowth	4796	TONSL	OMIM:271510
HP:0009826	Limb undergrowth	145258	GSC	OMIM:602471
HP:0009826	Limb undergrowth	51360	MBTPS2	OMIM:301014
HP:0009826	Limb undergrowth	79796	ALG9	ORPHA:79328
HP:0009826	Limb undergrowth	5130	PCYT1A	ORPHA:85167
HP:0009826	Limb undergrowth	5130	PCYT1A	OMIM:608940
HP:0009826	Limb undergrowth	9702	CEP57	OMIM:614114
HP:0009826	Limb undergrowth	2260	FGFR1	ORPHA:2645
HP:0009826	Limb undergrowth	2260	FGFR1	OMIM:166250
HP:0009826	Limb undergrowth	23387	SIK3	OMIM:618162
HP:0009826	Limb undergrowth	10682	EBP	OMIM:302960
HP:0009826	Limb undergrowth	1513	CTSK	ORPHA:763
HP:0009826	Limb undergrowth	26229	B3GAT3	OMIM:245600
HP:0009826	Limb undergrowth	6913	TBX15	OMIM:260660
HP:0009826	Limb undergrowth	81570	CLPB	OMIM:616271
HP:0009826	Limb undergrowth	25886	POC1A	OMIM:614813
HP:0009826	Limb undergrowth	54808	DYM	ORPHA:239
HP:0009826	Limb undergrowth	2879	GPX4	OMIM:250220
HP:0009826	Limb undergrowth	9241	NOG	OMIM:186500
HP:0009826	Limb undergrowth	1147	CHUK	OMIM:613630
HP:0009826	Limb undergrowth	9060	PAPSS2	OMIM:612847
HP:0009826	Limb undergrowth	6473	SHOX	ORPHA:314795
HP:0009826	Limb undergrowth	2131	EXT1	ORPHA:321
HP:0009826	Limb undergrowth	2132	EXT2	ORPHA:321
HP:0009826	Limb undergrowth	9401	RECQL4	OMIM:218600
HP:0009826	Limb undergrowth	8813	DPM1	OMIM:608799
HP:0009826	Limb undergrowth	5718	PSMD12	ORPHA:529962
HP:0009826	Limb undergrowth	2186	BPTF	ORPHA:529962
HP:0009826	Limb undergrowth	51604	PIGT	ORPHA:369837
HP:0009826	Limb undergrowth	57167	SALL4	OMIM:147750
HP:0009826	Limb undergrowth	2335	FN1	ORPHA:93315
HP:0009826	Limb undergrowth	388015	RTL1	ORPHA:96334
HP:0009826	Limb undergrowth	8788	DLK1	ORPHA:96334
HP:0009826	Limb undergrowth	55384	MEG3	ORPHA:96334
HP:0009826	Limb undergrowth	1311	COMP	ORPHA:750
HP:0009826	Limb undergrowth	2137	EXTL3	ORPHA:508533
HP:0009826	Limb undergrowth	2778	GNAS	OMIM:166350
HP:0009826	Limb undergrowth	2720	GLB1	OMIM:230600
HP:0009826	Limb undergrowth	84992	PIGY	OMIM:616809
HP:0009826	Limb undergrowth	2571	GAD1	OMIM:619124
HP:0009826	Limb undergrowth	2690	GHR	OMIM:262500
HP:0009826	Limb undergrowth	54928	BPNT2	OMIM:614078
HP:0009826	Limb undergrowth	202018	TAPT1	OMIM:616897
HP:0009826	Limb undergrowth	55343	SLC35C1	ORPHA:99843
HP:0009826	Limb undergrowth	1297	COL9A1	ORPHA:166002
HP:0009826	Limb undergrowth	1298	COL9A2	ORPHA:166002
HP:0009826	Limb undergrowth	1299	COL9A3	ORPHA:166002
HP:0009826	Limb undergrowth	1300	COL10A1	ORPHA:174
HP:0009826	Limb undergrowth	5331	PLCB3	OMIM:618961
HP:0009826	Limb undergrowth	2530	FUT8	OMIM:618005
HP:0009826	Limb undergrowth	7518	XRCC4	OMIM:616541
HP:0009826	Limb undergrowth	8218	CLTCL1	ORPHA:453510
HP:0009826	Limb undergrowth	1277	COL1A1	OMIM:166210
HP:0009826	Limb undergrowth	1278	COL1A2	OMIM:166210
HP:0009826	Limb undergrowth	64116	SLC39A8	ORPHA:468699
HP:0009826	Limb undergrowth	9361	LONP1	ORPHA:79243
HP:0009826	Limb undergrowth	5160	PDHA1	ORPHA:79243
HP:0009826	Limb undergrowth	27077	B9D1	OMIM:614209
HP:0009826	Limb undergrowth	4750	NEK1	ORPHA:2751
HP:0009826	Limb undergrowth	51199	NIN	ORPHA:319675
HP:0009826	Limb undergrowth	9509	ADAMTS2	OMIM:225410
HP:0009826	Limb undergrowth	54101	RIPK4	OMIM:263650
HP:0009826	Limb undergrowth	93627	TBCK	ORPHA:488632
HP:0009826	Limb undergrowth	54	ACP5	ORPHA:1855
HP:0009826	Limb undergrowth	4054	LTBP3	OMIM:617809
HP:0009826	Limb undergrowth	79848	CSPP1	ORPHA:397715
HP:0009826	Limb undergrowth	3265	HRAS	ORPHA:2874
HP:0009826	Limb undergrowth	1947	EFNB1	OMIM:304110
HP:0009826	Limb undergrowth	374879	ZNF699	OMIM:619488
HP:0041117	Fractured lower limb segment	25923	ATL3	OMIM:615632
HP:0025480	Lipomyelomeningocele	3190	HNRNPK	OMIM:616580
HP:0025480	Lipomyelomeningocele	6608	SMO	OMIM:601707
HP:0025481	Cervical hemivertebrae	22827	PUF60	ORPHA:508498
HP:0025481	Cervical hemivertebrae	8567	MADD	OMIM:619004
HP:0025482	Positive perchlorate discharge test	405753	DUOXA2	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	6528	SLC5A5	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	7038	TG	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	7173	TPO	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	389434	IYD	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	50506	DUOX2	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	5626	PROP1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin level	89884	LHX4	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin level	8022	LHX3	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin level	5449	POU1F1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin level	8820	HESX1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin level	405753	DUOXA2	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	6528	SLC5A5	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	7038	TG	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	7173	TPO	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	389434	IYD	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin level	7201	TRHR	ORPHA:99832
HP:0025483	Abnormal circulating thyroglobulin level	7252	TSHB	ORPHA:90674
HP:0025483	Abnormal circulating thyroglobulin level	7253	TSHR	OMIM:609152
HP:0025483	Abnormal circulating thyroglobulin level	7253	TSHR	ORPHA:90673
HP:0025483	Abnormal circulating thyroglobulin level	50506	DUOX2	ORPHA:226316
HP:0025483	Abnormal circulating thyroglobulin level	169792	GLIS3	OMIM:610199
HP:0025483	Abnormal circulating thyroglobulin level	7355	SLC35A2	ORPHA:356961
HP:0025483	Abnormal circulating thyroglobulin level	7849	PAX8	OMIM:218700
HP:0025483	Abnormal circulating thyroglobulin level	7068	THRB	OMIM:188570
HP:0025483	Abnormal circulating thyroglobulin level	3766	KCNJ10	OMIM:274600
HP:0025483	Abnormal circulating thyroglobulin level	2299	FOXI1	OMIM:274600
HP:0025483	Abnormal circulating thyroglobulin level	5172	SLC26A4	OMIM:274600
HP:0025484	Increased circulating thyroglobulin level	7253	TSHR	OMIM:609152
HP:0025484	Increased circulating thyroglobulin level	7253	TSHR	ORPHA:90673
HP:0025484	Increased circulating thyroglobulin level	50506	DUOX2	ORPHA:226316
HP:0025484	Increased circulating thyroglobulin level	169792	GLIS3	OMIM:610199
HP:0025484	Increased circulating thyroglobulin level	7355	SLC35A2	ORPHA:356961
HP:0025484	Increased circulating thyroglobulin level	7849	PAX8	OMIM:218700
HP:0025484	Increased circulating thyroglobulin level	7068	THRB	OMIM:188570
HP:0025484	Increased circulating thyroglobulin level	3766	KCNJ10	OMIM:274600
HP:0025484	Increased circulating thyroglobulin level	2299	FOXI1	OMIM:274600
HP:0025484	Increased circulating thyroglobulin level	5172	SLC26A4	OMIM:274600
HP:0025486	Fused labia majora	367	AR	ORPHA:90797
HP:0025486	Fused labia majora	2516	NR5A1	OMIM:617480
HP:0025486	Fused labia majora	5447	POR	OMIM:201750
HP:0025486	Fused labia majora	5447	POR	ORPHA:95699
HP:0025487	Abnormality of bladder morphology	1277	COL1A1	ORPHA:287
HP:0025487	Abnormality of bladder morphology	1289	COL5A1	ORPHA:287
HP:0025487	Abnormality of bladder morphology	1290	COL5A2	ORPHA:287
HP:0025487	Abnormality of bladder morphology	538	ATP7A	ORPHA:565
HP:0025487	Abnormality of bladder morphology	538	ATP7A	ORPHA:198
HP:0025487	Abnormality of bladder morphology	538	ATP7A	OMIM:304150
HP:0025487	Abnormality of bladder morphology	5351	PLOD1	OMIM:225400
HP:0025487	Abnormality of bladder morphology	1278	COL1A2	OMIM:617821
HP:0025487	Abnormality of bladder morphology	2006	ELN	ORPHA:90348
HP:0025487	Abnormality of bladder morphology	2006	ELN	ORPHA:904
HP:0025487	Abnormality of bladder morphology	2006	ELN	OMIM:194050
HP:0025487	Abnormality of bladder morphology	10516	FBLN5	ORPHA:90348
HP:0025487	Abnormality of bladder morphology	10516	FBLN5	OMIM:219100
HP:0025487	Abnormality of bladder morphology	5832	ALDH18A1	ORPHA:90348
HP:0025487	Abnormality of bladder morphology	57167	SALL4	ORPHA:959
HP:0025487	Abnormality of bladder morphology	6804	STX1A	ORPHA:904
HP:0025487	Abnormality of bladder morphology	7461	CLIP2	ORPHA:904
HP:0025487	Abnormality of bladder morphology	84277	DNAJC30	ORPHA:904
HP:0025487	Abnormality of bladder morphology	8468	FKBP6	ORPHA:904
HP:0025487	Abnormality of bladder morphology	5982	RFC2	ORPHA:904
HP:0025487	Abnormality of bladder morphology	2969	GTF2I	ORPHA:904
HP:0025487	Abnormality of bladder morphology	3984	LIMK1	ORPHA:904
HP:0025487	Abnormality of bladder morphology	9569	GTF2IRD1	ORPHA:904
HP:0025487	Abnormality of bladder morphology	155382	VPS37D	ORPHA:904
HP:0025487	Abnormality of bladder morphology	155368	METTL27	ORPHA:904
HP:0025487	Abnormality of bladder morphology	114049	BUD23	ORPHA:904
HP:0025487	Abnormality of bladder morphology	7458	EIF4H	ORPHA:904
HP:0025487	Abnormality of bladder morphology	84163	GTF2IRD2	ORPHA:904
HP:0025487	Abnormality of bladder morphology	9275	BCL7B	ORPHA:904
HP:0025487	Abnormality of bladder morphology	26608	TBL2	ORPHA:904
HP:0025487	Abnormality of bladder morphology	653361	NCF1	ORPHA:904
HP:0025487	Abnormality of bladder morphology	135886	TMEM270	ORPHA:904
HP:0025487	Abnormality of bladder morphology	51085	MLXIPL	ORPHA:904
HP:0025487	Abnormality of bladder morphology	51085	MLXIPL	OMIM:194050
HP:0025487	Abnormality of bladder morphology	9031	BAZ1B	ORPHA:904
HP:0025487	Abnormality of bladder morphology	55033	FKBP14	OMIM:614557
HP:0025487	Abnormality of bladder morphology	4629	MYH11	OMIM:619350
HP:0025487	Abnormality of bladder morphology	4629	MYH11	OMIM:619351
HP:0025487	Abnormality of bladder morphology	4629	MYH11	ORPHA:2241
HP:0025487	Abnormality of bladder morphology	72	ACTG2	OMIM:155310
HP:0025487	Abnormality of bladder morphology	72	ACTG2	OMIM:619431
HP:0025487	Abnormality of bladder morphology	72	ACTG2	ORPHA:2604
HP:0025487	Abnormality of bladder morphology	72	ACTG2	ORPHA:2241
HP:0025487	Abnormality of bladder morphology	25802	LMOD1	OMIM:619362
HP:0025487	Abnormality of bladder morphology	25802	LMOD1	ORPHA:2241
HP:0025487	Abnormality of bladder morphology	9860	LRIG2	OMIM:615112
HP:0025487	Abnormality of bladder morphology	554	AVPR2	OMIM:304800
HP:0025487	Abnormality of bladder morphology	10398	MYL9	OMIM:619365
HP:0025487	Abnormality of bladder morphology	359	AQP2	OMIM:125800
HP:0025487	Abnormality of bladder morphology	4638	MYLK	ORPHA:2241
HP:0025487	Abnormality of bladder morphology	7080	NKX2-1	ORPHA:209905
HP:0025487	Abnormality of bladder morphology	8626	TP63	OMIM:604292
HP:0025487	Abnormality of bladder morphology	8195	MKKS	OMIM:236700
HP:0025487	Abnormality of bladder morphology	5447	POR	OMIM:201750
HP:0025487	Abnormality of bladder morphology	7355	SLC35A2	OMIM:300896
HP:0025487	Abnormality of bladder morphology	9968	MED12	OMIM:301068
HP:0025487	Abnormality of bladder morphology	3845	KRAS	OMIM:600268
HP:0025487	Abnormality of bladder morphology	51733	UPB1	OMIM:613161
HP:0025487	Abnormality of bladder morphology	1009	CDH11	ORPHA:1299
HP:0025487	Abnormality of bladder morphology	5053	PAH	ORPHA:2209
HP:0025487	Abnormality of bladder morphology	3670	ISL1	ORPHA:93930
HP:0025487	Abnormality of bladder morphology	51360	MBTPS2	ORPHA:85284
HP:0025487	Abnormality of bladder morphology	23426	GRIP1	OMIM:617667
HP:0025487	Abnormality of bladder morphology	92002	CCNQ	OMIM:300707
HP:0025487	Abnormality of bladder morphology	79796	ALG9	ORPHA:79328
HP:0025487	Abnormality of bladder morphology	54361	WNT4	ORPHA:139466
HP:0025487	Abnormality of bladder morphology	54361	WNT4	OMIM:611812
HP:0025487	Abnormality of bladder morphology	54903	MKS1	OMIM:249000
HP:0025487	Abnormality of bladder morphology	23556	PIGN	ORPHA:280633
HP:0025487	Abnormality of bladder morphology	3909	LAMA3	ORPHA:79404
HP:0025487	Abnormality of bladder morphology	3918	LAMC2	ORPHA:79404
HP:0025487	Abnormality of bladder morphology	3914	LAMB3	ORPHA:79404
HP:0025487	Abnormality of bladder morphology	3655	ITGA6	ORPHA:79403
HP:0025487	Abnormality of bladder morphology	3691	ITGB4	ORPHA:79403
HP:0025487	Abnormality of bladder morphology	3691	ITGB4	ORPHA:158684
HP:0025487	Abnormality of bladder morphology	341640	FREM2	OMIM:617666
HP:0025487	Abnormality of bladder morphology	5339	PLEC	ORPHA:158684
HP:0025487	Abnormality of bladder morphology	57545	CC2D2A	OMIM:612284
HP:0025487	Abnormality of bladder morphology	745	MYRF	OMIM:618280
HP:0025487	Abnormality of bladder morphology	4714	NDUFB8	OMIM:618252
HP:0025487	Abnormality of bladder morphology	2294	FOXF1	OMIM:265380
HP:0025487	Abnormality of bladder morphology	93649	MYOCD	OMIM:618719
HP:0025487	Abnormality of bladder morphology	5880	RAC2	OMIM:608203
HP:0025487	Abnormality of bladder morphology	8425	LTBP4	OMIM:613177
HP:0025487	Abnormality of bladder morphology	4052	LTBP1	ORPHA:90349
HP:0025487	Abnormality of bladder morphology	30008	EFEMP2	ORPHA:90349
HP:0025487	Abnormality of bladder morphology	6595	SMARCA2	ORPHA:2728
HP:0025487	Abnormality of bladder morphology	4088	SMAD3	ORPHA:284984
HP:0025487	Abnormality of bladder morphology	6794	STK11	OMIM:175200
HP:0025487	Abnormality of bladder morphology	92579	G6PC3	OMIM:612541
HP:0025487	Abnormality of bladder morphology	1281	COL3A1	OMIM:130050
HP:0025487	Abnormality of bladder morphology	1281	COL3A1	ORPHA:286
HP:0025488	Detrusor sphincter dyssynergia	7840	ALMS1	ORPHA:64
HP:0025488	Detrusor sphincter dyssynergia	10667	FARS2	ORPHA:466722
HP:0005050	Anterolateral radial head dislocation	10082	GPC6	OMIM:258315
HP:0003071	Flattened epiphysis	5745	PTH1R	OMIM:600002
HP:0003071	Flattened epiphysis	4322	MMP13	OMIM:602111
HP:0003071	Flattened epiphysis	4322	MMP13	ORPHA:93356
HP:0003071	Flattened epiphysis	1298	COL9A2	OMIM:600204
HP:0003071	Flattened epiphysis	9131	AIFM1	OMIM:300232
HP:0003071	Flattened epiphysis	9451	EIF2AK3	OMIM:226980
HP:0003071	Flattened epiphysis	83452	RAB33B	OMIM:615222
HP:0003071	Flattened epiphysis	84068	SLC10A7	OMIM:618363
HP:0003071	Flattened epiphysis	9469	CHST3	OMIM:143095
HP:0003071	Flattened epiphysis	374654	KIF7	OMIM:607131
HP:0003071	Flattened epiphysis	124583	CANT1	OMIM:251450
HP:0003071	Flattened epiphysis	55764	IFT122	OMIM:218330
HP:0003071	Flattened epiphysis	55325	UFSP2	OMIM:142669
HP:0003071	Flattened epiphysis	3835	KIF22	ORPHA:93360
HP:0003071	Flattened epiphysis	3835	KIF22	OMIM:603546
HP:0003071	Flattened epiphysis	91252	SLC39A13	ORPHA:157965
HP:0003071	Flattened epiphysis	91252	SLC39A13	OMIM:612350
HP:0003071	Flattened epiphysis	84572	GNPTG	OMIM:252605
HP:0003071	Flattened epiphysis	8838	CCN6	ORPHA:1159
HP:0003071	Flattened epiphysis	176	ACAN	OMIM:608361
HP:0003071	Flattened epiphysis	1297	COL9A1	OMIM:614134
HP:0003071	Flattened epiphysis	1297	COL9A1	OMIM:614135
HP:0003071	Flattened epiphysis	7227	TRPS1	OMIM:190350
HP:0003071	Flattened epiphysis	9496	TBX4	OMIM:147891
HP:0003071	Flattened epiphysis	4796	TONSL	ORPHA:93357
HP:0003071	Flattened epiphysis	1836	SLC26A2	ORPHA:93307
HP:0003071	Flattened epiphysis	1280	COL2A1	OMIM:156550
HP:0003071	Flattened epiphysis	59341	TRPV4	ORPHA:93314
HP:0001371	Flexion contracture	64093	SMOC1	OMIM:206920
HP:0001371	Flexion contracture	64093	SMOC1	ORPHA:1106
HP:0001371	Flexion contracture	3868	KRT16	ORPHA:2199
HP:0001371	Flexion contracture	3857	KRT9	ORPHA:2199
HP:0001371	Flexion contracture	57863	CADM3	OMIM:619519
HP:0001371	Flexion contracture	64374	SIL1	OMIM:248800
HP:0001371	Flexion contracture	3763	KCNJ6	ORPHA:435628
HP:0001371	Flexion contracture	3763	KCNJ6	OMIM:614098
HP:0001371	Flexion contracture	9131	AIFM1	OMIM:300232
HP:0001371	Flexion contracture	8506	CNTNAP1	OMIM:618186
HP:0001371	Flexion contracture	5393	EXOSC9	OMIM:618065
HP:0001371	Flexion contracture	55823	VPS11	OMIM:616683
HP:0001371	Flexion contracture	3691	ITGB4	ORPHA:158684
HP:0001371	Flexion contracture	2895	GRID2	OMIM:616204
HP:0001371	Flexion contracture	1161	ERCC8	ORPHA:90324
HP:0001371	Flexion contracture	1161	ERCC8	ORPHA:90322
HP:0001371	Flexion contracture	2074	ERCC6	ORPHA:90324
HP:0001371	Flexion contracture	2074	ERCC6	ORPHA:90322
HP:0001371	Flexion contracture	2074	ERCC6	OMIM:214150
HP:0001371	Flexion contracture	775	CACNA1C	OMIM:620029
HP:0001371	Flexion contracture	825	CAPN3	OMIM:253600
HP:0001371	Flexion contracture	825	CAPN3	ORPHA:267
HP:0001371	Flexion contracture	4047	LSS	ORPHA:2850
HP:0001371	Flexion contracture	197	AHSG	ORPHA:2850
HP:0001371	Flexion contracture	3694	ITGB6	ORPHA:2850
HP:0001371	Flexion contracture	5352	PLOD2	OMIM:609220
HP:0001371	Flexion contracture	64324	NSD1	ORPHA:821
HP:0001371	Flexion contracture	29072	SETD2	ORPHA:821
HP:0001371	Flexion contracture	10297	APC2	ORPHA:821
HP:0001371	Flexion contracture	2067	ERCC1	ORPHA:90322
HP:0001371	Flexion contracture	5447	POR	ORPHA:95699
HP:0001371	Flexion contracture	5447	POR	OMIM:207410
HP:0001371	Flexion contracture	4072	EPCAM	ORPHA:144
HP:0001371	Flexion contracture	4292	MLH1	ORPHA:144
HP:0001371	Flexion contracture	5395	PMS2	ORPHA:144
HP:0001371	Flexion contracture	27030	MLH3	ORPHA:144
HP:0001371	Flexion contracture	22909	FAN1	ORPHA:144
HP:0001371	Flexion contracture	7048	TGFBR2	ORPHA:144
HP:0001371	Flexion contracture	3845	KRAS	ORPHA:144
HP:0001371	Flexion contracture	5290	PIK3CA	ORPHA:144
HP:0001371	Flexion contracture	2956	MSH6	ORPHA:144
HP:0001371	Flexion contracture	5378	PMS1	ORPHA:144
HP:0001371	Flexion contracture	4436	MSH2	ORPHA:144
HP:0001371	Flexion contracture	4312	MMP1	ORPHA:79408
HP:0001371	Flexion contracture	4312	MMP1	OMIM:226600
HP:0001371	Flexion contracture	1294	COL7A1	ORPHA:79408
HP:0001371	Flexion contracture	1294	COL7A1	OMIM:226600
HP:0001371	Flexion contracture	1294	COL7A1	ORPHA:89842
HP:0001371	Flexion contracture	10479	SLC9A6	OMIM:300243
HP:0001371	Flexion contracture	6775	STAT4	ORPHA:85408
HP:0001371	Flexion contracture	3560	IL2RB	ORPHA:85408
HP:0001371	Flexion contracture	79722	ANKRD55	ORPHA:85408
HP:0001371	Flexion contracture	26191	PTPN22	ORPHA:85408
HP:0001371	Flexion contracture	919	CD247	ORPHA:85408
HP:0001371	Flexion contracture	3559	IL2RA	ORPHA:85408
HP:0001371	Flexion contracture	5771	PTPN2	ORPHA:85408
HP:0001371	Flexion contracture	8443	GNPAT	OMIM:222765
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:171436
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:2020
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:171439
HP:0001371	Flexion contracture	7169	TPM2	OMIM:609285
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171436
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171433
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171430
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171439
HP:0001371	Flexion contracture	4703	NEB	OMIM:256030
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171436
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171433
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171430
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171439
HP:0001371	Flexion contracture	56203	LMOD3	ORPHA:171436
HP:0001371	Flexion contracture	56203	LMOD3	ORPHA:171430
HP:0001371	Flexion contracture	56203	LMOD3	OMIM:616165
HP:0001371	Flexion contracture	1073	CFL2	ORPHA:171436
HP:0001371	Flexion contracture	54968	TMEM70	ORPHA:1194
HP:0001371	Flexion contracture	3020	H3-3A	OMIM:619720
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:171433
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:2020
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:171439
HP:0001371	Flexion contracture	7170	TPM3	OMIM:609284
HP:0001371	Flexion contracture	6536	SLC6A9	OMIM:617301
HP:0001371	Flexion contracture	131377	KLHL40	ORPHA:171430
HP:0001371	Flexion contracture	131377	KLHL40	OMIM:615348
HP:0001371	Flexion contracture	1785	DNM2	OMIM:615368
HP:0001371	Flexion contracture	1785	DNM2	OMIM:160150
HP:0001371	Flexion contracture	64218	SEMA4A	ORPHA:440437
HP:0001371	Flexion contracture	657	BMPR1A	ORPHA:440437
HP:0001371	Flexion contracture	6224	RPS20	ORPHA:440437
HP:0001371	Flexion contracture	65082	VPS33A	OMIM:617303
HP:0001371	Flexion contracture	65082	VPS33A	ORPHA:505248
HP:0001371	Flexion contracture	25914	RTTN	OMIM:614833
HP:0001371	Flexion contracture	84197	POMK	OMIM:615249
HP:0001371	Flexion contracture	128486	FITM2	OMIM:618635
HP:0001371	Flexion contracture	23431	AP4E1	OMIM:613744
HP:0001371	Flexion contracture	3908	LAMA2	ORPHA:258
HP:0001371	Flexion contracture	3908	LAMA2	OMIM:607855
HP:0001371	Flexion contracture	29925	GMPPB	ORPHA:353327
HP:0001371	Flexion contracture	2673	GFPT1	ORPHA:353327
HP:0001371	Flexion contracture	1798	DPAGT1	ORPHA:353327
HP:0001371	Flexion contracture	1798	DPAGT1	ORPHA:86309
HP:0001371	Flexion contracture	1798	DPAGT1	OMIM:608093
HP:0001371	Flexion contracture	85365	ALG2	ORPHA:353327
HP:0001371	Flexion contracture	199857	ALG14	ORPHA:353327
HP:0001371	Flexion contracture	6595	SMARCA2	OMIM:619293
HP:0001371	Flexion contracture	54332	GDAP1	OMIM:607706
HP:0001371	Flexion contracture	54332	GDAP1	ORPHA:101097
HP:0001371	Flexion contracture	1146	CHRNG	OMIM:265000
HP:0001371	Flexion contracture	1146	CHRNG	OMIM:253290
HP:0001371	Flexion contracture	23250	ATP11A	OMIM:619851
HP:0001371	Flexion contracture	7345	UCHL1	OMIM:615491
HP:0001371	Flexion contracture	274	BIN1	OMIM:255200
HP:0001371	Flexion contracture	9469	CHST3	OMIM:143095
HP:0001371	Flexion contracture	9469	CHST3	ORPHA:263463
HP:0001371	Flexion contracture	50814	NSDHL	OMIM:308050
HP:0001371	Flexion contracture	1889	ECE1	OMIM:613870
HP:0001371	Flexion contracture	3423	IDS	ORPHA:217085
HP:0001371	Flexion contracture	3423	IDS	OMIM:309900
HP:0001371	Flexion contracture	3423	IDS	ORPHA:217093
HP:0001371	Flexion contracture	9326	ZNHIT3	ORPHA:2836
HP:0001371	Flexion contracture	547	KIF1A	ORPHA:2836
HP:0001371	Flexion contracture	547	KIF1A	OMIM:614255
HP:0001371	Flexion contracture	55157	DARS2	ORPHA:137898
HP:0001371	Flexion contracture	55157	DARS2	OMIM:611105
HP:0001371	Flexion contracture	4604	MYBPC1	OMIM:618524
HP:0001371	Flexion contracture	4604	MYBPC1	OMIM:614915
HP:0001371	Flexion contracture	8560	DEGS1	OMIM:618404
HP:0001371	Flexion contracture	8398	PLA2G6	ORPHA:35069
HP:0001371	Flexion contracture	546	ATRX	ORPHA:847
HP:0001371	Flexion contracture	5191	PEX7	OMIM:215100
HP:0001371	Flexion contracture	3339	HSPG2	ORPHA:1865
HP:0001371	Flexion contracture	3848	KRT1	ORPHA:79503
HP:0001371	Flexion contracture	56984	PSMG2	OMIM:619183
HP:0001371	Flexion contracture	9839	ZEB2	ORPHA:261552
HP:0001371	Flexion contracture	9839	ZEB2	ORPHA:261537
HP:0001371	Flexion contracture	8726	EED	OMIM:617561
HP:0001371	Flexion contracture	57190	SELENON	ORPHA:2020
HP:0001371	Flexion contracture	57190	SELENON	OMIM:602771
HP:0001371	Flexion contracture	4633	MYL2	ORPHA:2020
HP:0001371	Flexion contracture	3679	ITGA7	ORPHA:2020
HP:0001371	Flexion contracture	9200	HACD1	ORPHA:2020
HP:0001371	Flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0001371	Flexion contracture	22872	SEC31A	OMIM:618651
HP:0001371	Flexion contracture	833	CARS1	OMIM:618891
HP:0001371	Flexion contracture	84314	TMEM107	OMIM:617562
HP:0001371	Flexion contracture	10682	EBP	ORPHA:35173
HP:0001371	Flexion contracture	1641	DCX	ORPHA:2148
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93926
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93924
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93925
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:220386
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93926
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93924
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93925
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:220386
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93926
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93924
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93925
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:220386
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93926
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93924
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93925
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:220386
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93926
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93924
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93925
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:220386
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93926
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93924
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93925
HP:0001371	Flexion contracture	6469	SHH	ORPHA:220386
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93926
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93924
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93925
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:220386
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93926
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93924
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93925
HP:0001371	Flexion contracture	6491	STIL	ORPHA:220386
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93926
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93924
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93925
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:220386
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93926
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93924
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93925
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:220386
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93926
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93924
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93925
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:220386
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93926
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93924
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93925
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:220386
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93926
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93924
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93925
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:220386
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93926
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93924
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93925
HP:0001371	Flexion contracture	50937	CDON	ORPHA:220386
HP:0001371	Flexion contracture	2783	GNB2	OMIM:619503
HP:0001371	Flexion contracture	4632	MYL1	OMIM:618414
HP:0001371	Flexion contracture	2260	FGFR1	ORPHA:93924
HP:0001371	Flexion contracture	2260	FGFR1	ORPHA:220386
HP:0001371	Flexion contracture	2752	GLUL	OMIM:610015
HP:0001371	Flexion contracture	23007	PLCH1	ORPHA:93925
HP:0001371	Flexion contracture	10735	STAG2	ORPHA:93925
HP:0001371	Flexion contracture	10735	STAG2	ORPHA:220386
HP:0001371	Flexion contracture	3782	KCNN3	OMIM:618658
HP:0001371	Flexion contracture	3425	IDUA	OMIM:607014
HP:0001371	Flexion contracture	5373	PMM2	OMIM:212065
HP:0001371	Flexion contracture	11285	B4GALT7	OMIM:130070
HP:0001371	Flexion contracture	11285	B4GALT7	ORPHA:75496
HP:0001371	Flexion contracture	10717	AP4B1	OMIM:614066
HP:0001371	Flexion contracture	149371	EXOC8	OMIM:619076
HP:0001371	Flexion contracture	11154	AP4S1	OMIM:614067
HP:0001371	Flexion contracture	2629	GBA1	ORPHA:85212
HP:0001371	Flexion contracture	2629	GBA1	ORPHA:77260
HP:0001371	Flexion contracture	51633	OTUD6B	OMIM:617452
HP:0001371	Flexion contracture	55699	IARS2	OMIM:616007
HP:0001371	Flexion contracture	9289	ADGRG1	ORPHA:98889
HP:0001371	Flexion contracture	5297	PI4KA	ORPHA:98889
HP:0001371	Flexion contracture	27286	SRPX2	ORPHA:98889
HP:0001371	Flexion contracture	11128	POLR3A	OMIM:264090
HP:0001371	Flexion contracture	64837	KLC2	OMIM:609541
HP:0001371	Flexion contracture	26137	ZBTB20	OMIM:259050
HP:0001371	Flexion contracture	26137	ZBTB20	ORPHA:3042
HP:0001371	Flexion contracture	64419	MTMR14	OMIM:160150
HP:0001371	Flexion contracture	57152	SLURP1	ORPHA:87503
HP:0001371	Flexion contracture	27086	FOXP1	ORPHA:391372
HP:0001371	Flexion contracture	773	CACNA1A	OMIM:617106
HP:0001371	Flexion contracture	163175	LGI4	OMIM:617468
HP:0001371	Flexion contracture	6506	SLC1A2	OMIM:617105
HP:0001371	Flexion contracture	388015	RTL1	ORPHA:96334
HP:0001371	Flexion contracture	388015	RTL1	ORPHA:254528
HP:0001371	Flexion contracture	8788	DLK1	ORPHA:96334
HP:0001371	Flexion contracture	8788	DLK1	ORPHA:254528
HP:0001371	Flexion contracture	55384	MEG3	ORPHA:96334
HP:0001371	Flexion contracture	55384	MEG3	ORPHA:254528
HP:0001371	Flexion contracture	51085	MLXIPL	OMIM:194050
HP:0001371	Flexion contracture	2006	ELN	OMIM:194050
HP:0001371	Flexion contracture	487	ATP2A1	OMIM:601003
HP:0001371	Flexion contracture	427	ASAH1	ORPHA:2590
HP:0001371	Flexion contracture	427	ASAH1	ORPHA:333
HP:0001371	Flexion contracture	4677	NARS1	OMIM:619091
HP:0001371	Flexion contracture	8242	KDM5C	OMIM:300534
HP:0001371	Flexion contracture	22906	TRAK1	OMIM:618201
HP:0001371	Flexion contracture	55612	FERMT1	ORPHA:2908
HP:0001371	Flexion contracture	6843	VAMP1	OMIM:618323
HP:0001371	Flexion contracture	81031	SLC2A10	OMIM:208050
HP:0001371	Flexion contracture	5692	PSMB4	OMIM:617591
HP:0001371	Flexion contracture	5698	PSMB9	OMIM:617591
HP:0001371	Flexion contracture	3977	LIFR	ORPHA:3206
HP:0001371	Flexion contracture	51227	PIGP	OMIM:617599
HP:0001371	Flexion contracture	55275	VPS53	OMIM:615851
HP:0001371	Flexion contracture	84665	MYPN	ORPHA:171439
HP:0001371	Flexion contracture	390594	KBTBD13	ORPHA:171439
HP:0001371	Flexion contracture	55681	SCYL2	ORPHA:1143
HP:0001371	Flexion contracture	84570	COL25A1	ORPHA:1143
HP:0001371	Flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0001371	Flexion contracture	10195	ALG3	OMIM:601110
HP:0001371	Flexion contracture	6567	SLC16A2	ORPHA:59
HP:0001371	Flexion contracture	6567	SLC16A2	OMIM:300523
HP:0001371	Flexion contracture	91252	SLC39A13	ORPHA:157965
HP:0001371	Flexion contracture	171023	ASXL1	OMIM:605039
HP:0001371	Flexion contracture	1387	CREBBP	OMIM:618332
HP:0001371	Flexion contracture	1387	CREBBP	OMIM:180849
HP:0001371	Flexion contracture	81570	CLPB	OMIM:616271
HP:0001371	Flexion contracture	54101	RIPK4	OMIM:263650
HP:0001371	Flexion contracture	667	DST	OMIM:614653
HP:0001371	Flexion contracture	3329	HSPD1	OMIM:612233
HP:0001371	Flexion contracture	1144	CHRND	OMIM:253290
HP:0001371	Flexion contracture	1134	CHRNA1	OMIM:253290
HP:0001371	Flexion contracture	284119	CAVIN1	OMIM:613327
HP:0001371	Flexion contracture	55770	EXOC2	OMIM:619306
HP:0001371	Flexion contracture	5277	PIGA	OMIM:301072
HP:0001371	Flexion contracture	5277	PIGA	OMIM:300868
HP:0001371	Flexion contracture	8905	AP1S2	OMIM:304340
HP:0001371	Flexion contracture	9927	MFN2	ORPHA:99947
HP:0001371	Flexion contracture	9927	MFN2	OMIM:609260
HP:0001371	Flexion contracture	4001	LMNB1	ORPHA:99027
HP:0001371	Flexion contracture	389827	MYMK	OMIM:254940
HP:0001371	Flexion contracture	23592	LEMD3	OMIM:166700
HP:0001371	Flexion contracture	23592	LEMD3	ORPHA:1306
HP:0001371	Flexion contracture	56052	ALG1	OMIM:608540
HP:0001371	Flexion contracture	2201	FBN2	ORPHA:115
HP:0001371	Flexion contracture	10075	HUWE1	OMIM:309590
HP:0001371	Flexion contracture	7051	TGM1	OMIM:242300
HP:0001371	Flexion contracture	9663	LPIN2	OMIM:609628
HP:0001371	Flexion contracture	9663	LPIN2	ORPHA:77297
HP:0001371	Flexion contracture	84706	GPT2	OMIM:616281
HP:0001371	Flexion contracture	23111	SPART	OMIM:275900
HP:0001371	Flexion contracture	10785	WDR4	OMIM:618346
HP:0001371	Flexion contracture	112	ADCY6	OMIM:616287
HP:0001371	Flexion contracture	579	NKX3-2	OMIM:613330
HP:0001371	Flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0001371	Flexion contracture	4621	MYH3	OMIM:618469
HP:0001371	Flexion contracture	9526	MPDU1	OMIM:609180
HP:0001371	Flexion contracture	203547	VMA21	OMIM:310440
HP:0001371	Flexion contracture	4747	NEFL	OMIM:607684
HP:0001371	Flexion contracture	2200	FBN1	ORPHA:284979
HP:0001371	Flexion contracture	2200	FBN1	OMIM:154700
HP:0001371	Flexion contracture	256297	PTF1A	OMIM:609069
HP:0001371	Flexion contracture	411	ARSB	OMIM:253200
HP:0001371	Flexion contracture	10049	DNAJB6	OMIM:603511
HP:0001371	Flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0001371	Flexion contracture	1302	COL11A2	OMIM:215150
HP:0001371	Flexion contracture	59341	TRPV4	OMIM:156530
HP:0001371	Flexion contracture	59341	TRPV4	OMIM:168400
HP:0001371	Flexion contracture	79868	ALG13	OMIM:300884
HP:0001371	Flexion contracture	6651	SON	OMIM:617140
HP:0001371	Flexion contracture	63895	PIEZO2	OMIM:617146
HP:0001371	Flexion contracture	8882	ZPR1	OMIM:619321
HP:0001371	Flexion contracture	10229	COQ7	OMIM:616733
HP:0001371	Flexion contracture	1836	SLC26A2	ORPHA:93307
HP:0001371	Flexion contracture	2263	FGFR2	OMIM:207410
HP:0001371	Flexion contracture	112939	NACC1	ORPHA:500545
HP:0001371	Flexion contracture	29078	NDUFAF4	OMIM:618237
HP:0001371	Flexion contracture	5831	PYCR1	OMIM:614438
HP:0001371	Flexion contracture	5010	CLDN11	OMIM:619328
HP:0001371	Flexion contracture	51010	EXOSC3	OMIM:614678
HP:0001371	Flexion contracture	23729	SHPK	ORPHA:440713
HP:0001371	Flexion contracture	10651	MTX2	ORPHA:90153
HP:0001371	Flexion contracture	10651	MTX2	OMIM:619127
HP:0001371	Flexion contracture	4204	MECP2	OMIM:300055
HP:0001371	Flexion contracture	3039	HBA1	ORPHA:98791
HP:0001371	Flexion contracture	3040	HBA2	ORPHA:98791
HP:0001371	Flexion contracture	10940	POP1	OMIM:617396
HP:0001371	Flexion contracture	4998	ORC1	OMIM:224690
HP:0001371	Flexion contracture	11253	MAN1B1	OMIM:614202
HP:0001371	Flexion contracture	2316	FLNA	ORPHA:88630
HP:0001371	Flexion contracture	2072	ERCC4	OMIM:278760
HP:0001371	Flexion contracture	6331	SCN5A	ORPHA:1344
HP:0001371	Flexion contracture	4878	NPPA	ORPHA:1344
HP:0001371	Flexion contracture	1280	COL2A1	OMIM:609162
HP:0001371	Flexion contracture	54551	MAGEL2	ORPHA:398069
HP:0001371	Flexion contracture	54551	MAGEL2	OMIM:615547
HP:0001371	Flexion contracture	64856	VWA1	OMIM:619216
HP:0001371	Flexion contracture	7965	AIMP2	OMIM:618006
HP:0001371	Flexion contracture	91137	SLC25A46	OMIM:616505
HP:0001371	Flexion contracture	51008	ASCC1	OMIM:616867
HP:0001371	Flexion contracture	57211	ADGRG6	OMIM:616503
HP:0001371	Flexion contracture	29920	PYCR2	ORPHA:481152
HP:0001371	Flexion contracture	9325	TRIP4	OMIM:616866
HP:0001371	Flexion contracture	9361	LONP1	ORPHA:79243
HP:0001371	Flexion contracture	5160	PDHA1	ORPHA:79243
HP:0001371	Flexion contracture	91647	ATPAF2	OMIM:604273
HP:0001371	Flexion contracture	6329	SCN4A	ORPHA:682
HP:0001371	Flexion contracture	2068	ERCC2	OMIM:601675
HP:0001371	Flexion contracture	6390	SDHB	OMIM:619224
HP:0001371	Flexion contracture	11342	RNF13	OMIM:618379
HP:0001371	Flexion contracture	11342	RNF13	ORPHA:544503
HP:0001371	Flexion contracture	7317	UBA1	OMIM:301830
HP:0001371	Flexion contracture	8802	SUCLG1	ORPHA:17
HP:0001371	Flexion contracture	79796	ALG9	OMIM:263210
HP:0001371	Flexion contracture	84896	ATAD1	OMIM:618011
HP:0001371	Flexion contracture	128637	TBC1D20	OMIM:615663
HP:0001371	Flexion contracture	25939	SAMHD1	OMIM:612952
HP:0001371	Flexion contracture	8425	LTBP4	ORPHA:98896
HP:0001371	Flexion contracture	8200	GDF5	OMIM:200700
HP:0001371	Flexion contracture	10269	ZMPSTE24	OMIM:608612
HP:0001371	Flexion contracture	10269	ZMPSTE24	OMIM:275210
HP:0001371	Flexion contracture	7874	USP7	ORPHA:500055
HP:0001371	Flexion contracture	5913	RAPSN	OMIM:618388
HP:0001371	Flexion contracture	9851	KIAA0753	OMIM:619479
HP:0001371	Flexion contracture	35	ACADS	OMIM:201470
HP:0001371	Flexion contracture	2033	EP300	OMIM:180849
HP:0001371	Flexion contracture	2517	FUCA1	OMIM:230000
HP:0001371	Flexion contracture	25782	RAB3GAP2	OMIM:614225
HP:0001371	Flexion contracture	1861	TOR1A	OMIM:618947
HP:0001371	Flexion contracture	22931	RAB18	OMIM:614222
HP:0001371	Flexion contracture	998	CDC42	ORPHA:487796
HP:0001371	Flexion contracture	9968	MED12	OMIM:309520
HP:0001371	Flexion contracture	4534	MTM1	OMIM:310400
HP:0001371	Flexion contracture	54880	BCOR	OMIM:300166
HP:0001371	Flexion contracture	2571	GAD1	OMIM:619124
HP:0001371	Flexion contracture	162514	TRPV3	OMIM:614594
HP:0001371	Flexion contracture	84340	GFM2	OMIM:618397
HP:0001371	Flexion contracture	202018	TAPT1	OMIM:616897
HP:0001371	Flexion contracture	60386	SLC25A19	OMIM:607196
HP:0001371	Flexion contracture	126792	B3GALT6	OMIM:271640
HP:0001371	Flexion contracture	342035	GLDN	OMIM:617194
HP:0001371	Flexion contracture	2176	FANCC	OMIM:227645
HP:0001371	Flexion contracture	5538	PPT1	OMIM:256730
HP:0001371	Flexion contracture	29954	POMT2	OMIM:613156
HP:0001371	Flexion contracture	2990	GUSB	OMIM:253220
HP:0001371	Flexion contracture	8243	SMC1A	ORPHA:220386
HP:0001371	Flexion contracture	8815	BANF1	OMIM:614008
HP:0001371	Flexion contracture	84700	MYO18B	OMIM:616549
HP:0001371	Flexion contracture	6261	RYR1	ORPHA:98905
HP:0001371	Flexion contracture	5354	PLP1	OMIM:312920
HP:0001371	Flexion contracture	84081	NSRP1	OMIM:620001
HP:0001371	Flexion contracture	6389	SDHA	OMIM:252011
HP:0001371	Flexion contracture	23529	CLCF1	ORPHA:1545
HP:0001371	Flexion contracture	9244	CRLF1	ORPHA:1545
HP:0001371	Flexion contracture	2801	GOLGA2	OMIM:620240
HP:0001371	Flexion contracture	224	ALDH3A2	OMIM:270200
HP:0001371	Flexion contracture	129285	PPP1R21	OMIM:619383
HP:0001371	Flexion contracture	84842	HPDL	OMIM:619026
HP:0001371	Flexion contracture	118429	ANTXR2	OMIM:228600
HP:0001371	Flexion contracture	22978	NT5C2	OMIM:613162
HP:0001371	Flexion contracture	221692	PHACTR1	OMIM:618298
HP:0001371	Flexion contracture	1140	CHRNB1	OMIM:616313
HP:0001371	Flexion contracture	1235	CCR6	ORPHA:220393
HP:0001371	Flexion contracture	1490	CCN2	ORPHA:220393
HP:0001371	Flexion contracture	3663	IRF5	ORPHA:220393
HP:0001371	Flexion contracture	857	CAV1	ORPHA:220393
HP:0001371	Flexion contracture	3123	HLA-DRB1	ORPHA:220393
HP:0001371	Flexion contracture	3767	KCNJ11	OMIM:618856
HP:0001371	Flexion contracture	170302	ARX	OMIM:309510
HP:0001371	Flexion contracture	5696	PSMB8	OMIM:256040
HP:0001371	Flexion contracture	246329	STAC3	OMIM:255995
HP:0001371	Flexion contracture	6786	STIM1	OMIM:160565
HP:0001371	Flexion contracture	203859	ANO5	ORPHA:206549
HP:0001371	Flexion contracture	6445	SGCG	ORPHA:353
HP:0001371	Flexion contracture	23299	BICD2	OMIM:615290
HP:0001371	Flexion contracture	55906	ZC4H2	OMIM:301041
HP:0001371	Flexion contracture	2273	FHL1	OMIM:300696
HP:0001371	Flexion contracture	2273	FHL1	OMIM:300695
HP:0001371	Flexion contracture	2273	FHL1	ORPHA:98863
HP:0001371	Flexion contracture	7273	TTN	OMIM:603689
HP:0001371	Flexion contracture	79147	FKRP	OMIM:606612
HP:0001371	Flexion contracture	79147	FKRP	ORPHA:370980
HP:0001371	Flexion contracture	79147	FKRP	OMIM:607155
HP:0001371	Flexion contracture	51651	PTRH2	OMIM:616263
HP:0001371	Flexion contracture	51651	PTRH2	ORPHA:456312
HP:0001371	Flexion contracture	54888	NSUN2	OMIM:611091
HP:0001371	Flexion contracture	3094	HINT1	ORPHA:324442
HP:0001371	Flexion contracture	339855	KY	OMIM:617114
HP:0001371	Flexion contracture	23516	SLC39A14	OMIM:617013
HP:0001371	Flexion contracture	4010	LMX1B	ORPHA:2614
HP:0001371	Flexion contracture	79912	PYROXD1	OMIM:617258
HP:0001371	Flexion contracture	1756	DMD	OMIM:310200
HP:0001371	Flexion contracture	291	SLC25A4	OMIM:615418
HP:0001371	Flexion contracture	2010	EMD	OMIM:310300
HP:0001371	Flexion contracture	2010	EMD	ORPHA:98863
HP:0001371	Flexion contracture	57679	ALS2	OMIM:607225
HP:0001371	Flexion contracture	6442	SGCA	ORPHA:62
HP:0001371	Flexion contracture	4556	MT-TE	ORPHA:2596
HP:0001371	Flexion contracture	9990	SLC12A6	OMIM:620068
HP:0001371	Flexion contracture	1292	COL6A2	OMIM:255600
HP:0001371	Flexion contracture	1292	COL6A2	ORPHA:610
HP:0001371	Flexion contracture	9499	MYOT	OMIM:609200
HP:0001371	Flexion contracture	10060	ABCC9	OMIM:619719
HP:0001371	Flexion contracture	4000	LMNA	OMIM:181350
HP:0001371	Flexion contracture	4000	LMNA	OMIM:613205
HP:0001371	Flexion contracture	4000	LMNA	ORPHA:98855
HP:0001371	Flexion contracture	4000	LMNA	ORPHA:98853
HP:0001371	Flexion contracture	5339	PLEC	ORPHA:254361
HP:0001371	Flexion contracture	3714	JAG2	OMIM:619566
HP:0001371	Flexion contracture	113179	ADAT3	ORPHA:363528
HP:0001371	Flexion contracture	51506	UFC1	OMIM:618076
HP:0001371	Flexion contracture	2705	GJB1	OMIM:302800
HP:0001371	Flexion contracture	58	ACTA1	OMIM:616852
HP:0001371	Flexion contracture	26090	ABHD12	OMIM:612674
HP:0001371	Flexion contracture	2218	FKTN	ORPHA:370980
HP:0001371	Flexion contracture	729920	CRPPA	ORPHA:370980
HP:0001371	Flexion contracture	10585	POMT1	ORPHA:370980
HP:0001371	Flexion contracture	3265	HRAS	OMIM:218040
HP:0001371	Flexion contracture	55768	NGLY1	ORPHA:404454
HP:0001371	Flexion contracture	2799	GNS	OMIM:252940
HP:0001371	Flexion contracture	4976	OPA1	OMIM:210000
HP:0001371	Flexion contracture	9215	LARGE1	OMIM:608840
HP:0001371	Flexion contracture	1303	COL12A1	ORPHA:610
HP:0001371	Flexion contracture	1291	COL6A1	ORPHA:610
HP:0001371	Flexion contracture	1293	COL6A3	ORPHA:610
HP:0001371	Flexion contracture	79188	TMEM43	ORPHA:98853
HP:0001371	Flexion contracture	23345	SYNE1	ORPHA:98853
HP:0001371	Flexion contracture	23224	SYNE2	ORPHA:98853
HP:0001371	Flexion contracture	1832	DSP	ORPHA:158687
HP:0001371	Flexion contracture	3728	JUP	ORPHA:158687
HP:0001371	Flexion contracture	84295	PHF6	ORPHA:127
HP:0001371	Flexion contracture	777	CACNA1E	OMIM:618285
HP:0001371	Flexion contracture	100128927	ZBTB42	OMIM:616248
HP:0001371	Flexion contracture	283989	TSEN54	OMIM:277470
HP:0001371	Flexion contracture	283989	TSEN54	OMIM:225753
HP:0001371	Flexion contracture	4620	MYH2	OMIM:605637
HP:0001371	Flexion contracture	9496	TBX4	ORPHA:261279
HP:0001371	Flexion contracture	5081	PAX7	OMIM:618578
HP:0001371	Flexion contracture	7443	VRK1	OMIM:607596
HP:0001371	Flexion contracture	26153	KIF26A	OMIM:620156
HP:0001371	Flexion contracture	1145	CHRNE	OMIM:608931
HP:0001371	Flexion contracture	2632	GBE1	OMIM:232500
HP:0001371	Flexion contracture	55627	SMPD4	OMIM:618622
HP:0001371	Flexion contracture	55593	OTUD5	OMIM:301056
HP:0001371	Flexion contracture	60482	SLC5A7	OMIM:617143
HP:0001371	Flexion contracture	60482	SLC5A7	ORPHA:98914
HP:0001371	Flexion contracture	2733	GLE1	OMIM:253310
HP:0001371	Flexion contracture	2733	GLE1	OMIM:611890
HP:0001371	Flexion contracture	56975	FAM20C	OMIM:259775
HP:0001371	Flexion contracture	6904	TBCD	ORPHA:496641
HP:0001371	Flexion contracture	6904	TBCD	OMIM:617193
HP:0001371	Flexion contracture	5980	REV3L	ORPHA:570
HP:0001371	Flexion contracture	23129	PLXND1	ORPHA:570
HP:0001371	Flexion contracture	63925	ZNF335	OMIM:615095
HP:0001371	Flexion contracture	1020	CDK5	OMIM:616342
HP:0001371	Flexion contracture	5119	CHMP1A	OMIM:614961
HP:0001371	Flexion contracture	91869	RFT1	ORPHA:244310
HP:0001371	Flexion contracture	6663	SOX10	ORPHA:163746
HP:0001371	Flexion contracture	6663	SOX10	OMIM:609136
HP:0001371	Flexion contracture	26276	VPS33B	OMIM:208085
HP:0001371	Flexion contracture	57498	KIDINS220	OMIM:619501
HP:0001371	Flexion contracture	63894	VIPAS39	OMIM:613404
HP:0001371	Flexion contracture	2065	ERBB3	OMIM:243180
HP:0001371	Flexion contracture	2065	ERBB3	OMIM:607598
HP:0001371	Flexion contracture	23265	EXOC7	OMIM:619072
HP:0001371	Flexion contracture	1182	CLCN3	OMIM:619512
HP:0001371	Flexion contracture	5530	PPP3CA	OMIM:618265
HP:0001371	Flexion contracture	1103	CHAT	OMIM:254210
HP:0001371	Flexion contracture	1103	CHAT	ORPHA:98914
HP:0001371	Flexion contracture	11340	EXOSC8	ORPHA:2254
HP:0001371	Flexion contracture	23287	AGTPBP1	ORPHA:2254
HP:0001371	Flexion contracture	55165	CEP55	OMIM:236500
HP:0001371	Flexion contracture	3800	KIF5C	OMIM:615282
HP:0001371	Flexion contracture	9928	KIF14	OMIM:616258
HP:0001371	Flexion contracture	1305	COL13A1	ORPHA:98914
HP:0001371	Flexion contracture	6576	SLC25A1	ORPHA:98914
HP:0001371	Flexion contracture	375790	AGRN	ORPHA:98914
HP:0001371	Flexion contracture	3911	LAMA5	OMIM:620076
HP:0001371	Flexion contracture	9319	TRIP13	OMIM:617598
HP:0001371	Flexion contracture	200205	IBA57	OMIM:615330
HP:0001371	Flexion contracture	91574	MTRFR	ORPHA:320375
HP:0001371	Flexion contracture	8216	LZTR1	OMIM:605275
HP:0001371	Flexion contracture	4625	MYH7	ORPHA:324604
HP:0001371	Flexion contracture	23769	FLRT1	ORPHA:320406
HP:0001371	Flexion contracture	94005	PIGS	OMIM:618143
HP:0001371	Flexion contracture	1763	DNA2	ORPHA:352470
HP:0001371	Flexion contracture	23396	PIP5K1C	OMIM:611369
HP:0001371	Flexion contracture	54820	NDE1	OMIM:605013
HP:0001371	Flexion contracture	3417	IDH1	ORPHA:99646
HP:0001371	Flexion contracture	5981	RFC1	ORPHA:504476
HP:0001371	Flexion contracture	404672	GTF2H5	ORPHA:33364
HP:0001371	Flexion contracture	7737	RNF113A	ORPHA:33364
HP:0001371	Flexion contracture	136647	MPLKIP	ORPHA:33364
HP:0001371	Flexion contracture	6897	TARS1	ORPHA:33364
HP:0001371	Flexion contracture	2071	ERCC3	ORPHA:33364
HP:0001371	Flexion contracture	2961	GTF2E2	ORPHA:33364
HP:0001371	Flexion contracture	6509	SLC1A4	ORPHA:447997
HP:0001371	Flexion contracture	10535	RNASEH2A	ORPHA:51
HP:0001371	Flexion contracture	84153	RNASEH2C	ORPHA:51
HP:0001371	Flexion contracture	79621	RNASEH2B	ORPHA:51
HP:0001371	Flexion contracture	103	ADAR	ORPHA:51
HP:0001371	Flexion contracture	11277	TREX1	ORPHA:51
HP:0001371	Flexion contracture	100147744	RNU7-1	ORPHA:51
HP:0001371	Flexion contracture	134353	LSM11	ORPHA:51
HP:0001371	Flexion contracture	64135	IFIH1	ORPHA:51
HP:0001371	Flexion contracture	2137	EXTL3	ORPHA:508533
HP:0001371	Flexion contracture	83932	SPRTN	OMIM:616200
HP:0001371	Flexion contracture	5351	PLOD1	ORPHA:1900
HP:0001371	Flexion contracture	7020	TFAP2A	OMIM:113620
HP:0001371	Flexion contracture	545	ATR	OMIM:210600
HP:0001371	Flexion contracture	84065	TMEM222	OMIM:619470
HP:0001371	Flexion contracture	3835	KIF22	ORPHA:93360
HP:0001371	Flexion contracture	6628	SNRPB	OMIM:117650
HP:0001371	Flexion contracture	340419	RSPO2	OMIM:618022
HP:0001371	Flexion contracture	23233	EXOC6B	ORPHA:93359
HP:0001371	Flexion contracture	5286	PIK3C2A	OMIM:618440
HP:0001371	Flexion contracture	25836	NIPBL	OMIM:122470
HP:0001371	Flexion contracture	7476	WNT7A	OMIM:276820
HP:0001371	Flexion contracture	5832	ALDH18A1	ORPHA:447757
HP:0001371	Flexion contracture	26229	B3GAT3	OMIM:245600
HP:0001371	Flexion contracture	215	ABCD1	ORPHA:139396
HP:0001371	Flexion contracture	29968	PSAT1	ORPHA:284417
HP:0001371	Flexion contracture	51102	MECR	OMIM:617282
HP:0001371	Flexion contracture	3074	HEXB	ORPHA:309162
HP:0001371	Flexion contracture	2902	GRIN1	OMIM:619814
HP:0001371	Flexion contracture	55131	RBM28	OMIM:612079
HP:0001371	Flexion contracture	51091	SEPSECS	OMIM:613811
HP:0001371	Flexion contracture	819	CAMLG	OMIM:620201
HP:0001371	Flexion contracture	1308	COL17A1	ORPHA:251393
HP:0001371	Flexion contracture	9653	HS2ST1	OMIM:619194
HP:0001371	Flexion contracture	10290	SPEG	ORPHA:169186
HP:0001371	Flexion contracture	10290	SPEG	OMIM:615959
HP:0001371	Flexion contracture	9894	TELO2	ORPHA:488642
HP:0001371	Flexion contracture	285175	UNC80	OMIM:616801
HP:0001371	Flexion contracture	285175	UNC80	ORPHA:371364
HP:0001371	Flexion contracture	84992	PIGY	OMIM:616809
HP:0001371	Flexion contracture	2617	GARS1	OMIM:619042
HP:0001371	Flexion contracture	60681	FKBP10	OMIM:259450
HP:0001371	Flexion contracture	4773	NFATC2	OMIM:620232
HP:0001371	Flexion contracture	87178	PNPT1	ORPHA:319514
HP:0001371	Flexion contracture	79158	GNPTAB	ORPHA:576
HP:0001371	Flexion contracture	5745	PTH1R	OMIM:156400
HP:0001371	Flexion contracture	84068	SLC10A7	OMIM:618363
HP:0001371	Flexion contracture	2157	F8	ORPHA:169805
HP:0001371	Flexion contracture	7138	TNNT1	ORPHA:98902
HP:0001371	Flexion contracture	7138	TNNT1	OMIM:605355
HP:0001371	Flexion contracture	4313	MMP2	OMIM:259600
HP:0001371	Flexion contracture	54681	P4HTM	OMIM:618493
HP:0001371	Flexion contracture	6023	RMRP	OMIM:607095
HP:0001371	Flexion contracture	23389	MED13L	ORPHA:369891
HP:0001371	Flexion contracture	65055	REEP1	OMIM:620011
HP:0001371	Flexion contracture	55628	ZNF407	OMIM:619557
HP:0001371	Flexion contracture	23219	FBXO28	OMIM:619777
HP:0001371	Flexion contracture	84265	POLR3GL	OMIM:619234
HP:0001371	Flexion contracture	3798	KIF5A	ORPHA:100991
HP:0001371	Flexion contracture	4626	MYH8	OMIM:158300
HP:0001371	Flexion contracture	4626	MYH8	OMIM:608837
HP:0001371	Flexion contracture	7528	YY1	ORPHA:506358
HP:0001371	Flexion contracture	7528	YY1	OMIM:617557
HP:0001371	Flexion contracture	34	ACADM	ORPHA:42
HP:0001371	Flexion contracture	57003	CCDC47	OMIM:618268
HP:0001371	Flexion contracture	4897	NRCAM	OMIM:619833
HP:0001371	Flexion contracture	113189	CHST14	OMIM:601776
HP:0001371	Flexion contracture	2521	FUS	ORPHA:300605
HP:0001371	Flexion contracture	10558	SPTLC1	ORPHA:300605
HP:0001371	Flexion contracture	80232	WDR26	ORPHA:513456
HP:0001371	Flexion contracture	6774	STAT3	ORPHA:99885
HP:0001371	Flexion contracture	2645	GCK	ORPHA:99885
HP:0001371	Flexion contracture	3651	PDX1	ORPHA:99885
HP:0001371	Flexion contracture	6833	ABCC8	ORPHA:99885
HP:0001371	Flexion contracture	3630	INS	ORPHA:99885
HP:0001371	Flexion contracture	9373	PLAA	ORPHA:521426
HP:0001371	Flexion contracture	9373	PLAA	OMIM:617527
HP:0001371	Flexion contracture	8818	DPM2	ORPHA:329178
HP:0001371	Flexion contracture	1193	CLIC2	ORPHA:324410
HP:0001371	Flexion contracture	5830	PEX5	OMIM:616716
HP:0001371	Flexion contracture	23556	PIGN	ORPHA:280633
HP:0001371	Flexion contracture	7043	TGFB3	OMIM:615582
HP:0001371	Flexion contracture	1984	EIF5A	OMIM:619376
HP:0001371	Flexion contracture	2643	GCH1	ORPHA:98808
HP:0001371	Flexion contracture	4929	NR4A2	ORPHA:98808
HP:0001371	Flexion contracture	3615	IMPDH2	ORPHA:98808
HP:0001371	Flexion contracture	6857	SYT1	ORPHA:522077
HP:0001371	Flexion contracture	23141	ANKLE2	OMIM:616681
HP:0001371	Flexion contracture	91179	SCARF2	OMIM:600920
HP:0001371	Flexion contracture	6616	SNAP25	OMIM:616330
HP:0001371	Flexion contracture	23321	TRIM2	OMIM:615490
HP:0001371	Flexion contracture	127833	SYT2	OMIM:619461
HP:0001371	Flexion contracture	79644	SRD5A3	OMIM:612713
HP:0001371	Flexion contracture	9531	BAG3	OMIM:612954
HP:0001371	Flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0001371	Flexion contracture	10804	GJB6	ORPHA:477
HP:0001371	Flexion contracture	2706	GJB2	ORPHA:477
HP:0001371	Flexion contracture	2706	GJB2	OMIM:148210
HP:0001371	Flexion contracture	9791	PTDSS1	OMIM:151050
HP:0001371	Flexion contracture	157570	ESCO2	ORPHA:3103
HP:0001371	Flexion contracture	157570	ESCO2	OMIM:268300
HP:0001371	Flexion contracture	10613	ERLIN1	ORPHA:401785
HP:0001371	Flexion contracture	2222	FDFT1	OMIM:618156
HP:0001371	Flexion contracture	83636	C19orf12	OMIM:615043
HP:0001371	Flexion contracture	1376	CPT2	OMIM:608836
HP:0001371	Flexion contracture	5296	PIK3R2	OMIM:603387
HP:0001371	Flexion contracture	23387	SIK3	OMIM:618162
HP:0001371	Flexion contracture	6392	SDHD	ORPHA:3208
HP:0001371	Flexion contracture	644096	SDHAF1	ORPHA:3208
HP:0001371	Flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0001371	Flexion contracture	8449	DHX16	OMIM:618733
HP:0001371	Flexion contracture	2737	GLI3	ORPHA:93322
HP:0001371	Flexion contracture	1605	DAG1	OMIM:613818
HP:0001371	Flexion contracture	1605	DAG1	ORPHA:280333
HP:0001371	Flexion contracture	55958	KLHL9	ORPHA:399081
HP:0001371	Flexion contracture	84876	ORAI1	OMIM:615883
HP:0001371	Flexion contracture	210	ALAD	ORPHA:100924
HP:0001371	Flexion contracture	513	ATP5F1D	OMIM:618120
HP:0001371	Flexion contracture	80208	SPG11	OMIM:616668
HP:0001371	Flexion contracture	57731	SPTBN4	OMIM:617519
HP:0001371	Flexion contracture	497661	C18orf32	OMIM:619985
HP:0001371	Flexion contracture	7407	VARS1	OMIM:617802
HP:0001371	Flexion contracture	9896	FIG4	OMIM:611228
HP:0001371	Flexion contracture	51305	KCNK9	ORPHA:166108
HP:0001371	Flexion contracture	2972	BRF1	ORPHA:444072
HP:0001371	Flexion contracture	23259	DDHD2	ORPHA:320380
HP:0001371	Flexion contracture	54828	BCAS3	OMIM:619641
HP:0001371	Flexion contracture	79932	KIAA0319L	ORPHA:220402
HP:0001371	Flexion contracture	5307	PITX1	OMIM:186550
HP:0001371	Flexion contracture	10664	CTCF	ORPHA:363611
HP:0001371	Flexion contracture	26053	AUTS2	ORPHA:352490
HP:0001371	Flexion contracture	219854	TMEM218	OMIM:619562
HP:0001371	Flexion contracture	23291	FBXW11	OMIM:618914
HP:0001371	Flexion contracture	9757	KMT2B	OMIM:619934
HP:0001371	Flexion contracture	3720	JARID2	OMIM:620098
HP:0001371	Flexion contracture	10765	KDM5B	OMIM:618109
HP:0001371	Flexion contracture	9487	PIGL	OMIM:280000
HP:0001371	Flexion contracture	10093	ARPC4	OMIM:620141
HP:0001371	Flexion contracture	25942	SIN3A	OMIM:613406
HP:0001371	Flexion contracture	11011	TLK2	OMIM:618050
HP:0001371	Flexion contracture	80816	ASXL3	OMIM:615485
HP:0001371	Flexion contracture	81857	MED25	ORPHA:464738
HP:0001371	Flexion contracture	6909	TBX2	OMIM:618223
HP:0001371	Flexion contracture	1718	DHCR24	OMIM:602398
HP:0001371	Flexion contracture	7390	UROS	OMIM:263700
HP:0001371	Flexion contracture	57449	PLEKHG5	OMIM:611067
HP:0001371	Flexion contracture	5376	PMP22	ORPHA:90658
HP:0001371	Flexion contracture	1277	COL1A1	OMIM:130060
HP:0001371	Flexion contracture	6134	RPL10	OMIM:300998
HP:0001371	Flexion contracture	23327	NEDD4L	OMIM:617201
HP:0001371	Flexion contracture	8985	PLOD3	OMIM:612394
HP:0001371	Flexion contracture	6662	SOX9	OMIM:114290
HP:0001371	Flexion contracture	4297	KMT2A	OMIM:605130
HP:0001371	Flexion contracture	91754	NEK9	OMIM:614262
HP:0001371	Flexion contracture	3008	H1-4	OMIM:617537
HP:0001371	Flexion contracture	4649	MYO9A	OMIM:618198
HP:0001371	Flexion contracture	9382	COG1	OMIM:611209
HP:0001371	Flexion contracture	57231	SNX14	ORPHA:397709
HP:0001371	Flexion contracture	57231	SNX14	OMIM:616354
HP:0001371	Flexion contracture	7125	TNNC2	OMIM:620161
HP:0001371	Flexion contracture	56992	KIF15	ORPHA:261323
HP:0001371	Flexion contracture	57589	RIC1	OMIM:618761
HP:0001371	Flexion contracture	80776	B9D2	OMIM:614175
HP:0001371	Flexion contracture	1954	MEGF8	OMIM:614976
HP:0001371	Flexion contracture	23314	SATB2	OMIM:612313
HP:0001371	Flexion contracture	8642	DCHS1	OMIM:601390
HP:0001371	Flexion contracture	8642	DCHS1	ORPHA:314679
HP:0001371	Flexion contracture	79053	ALG8	OMIM:608104
HP:0001371	Flexion contracture	79053	ALG8	ORPHA:79325
HP:0001371	Flexion contracture	26227	PHGDH	OMIM:256520
HP:0001371	Flexion contracture	57167	SALL4	ORPHA:233
HP:0001371	Flexion contracture	1123	CHN1	ORPHA:233
HP:0001371	Flexion contracture	3572	IL6ST	OMIM:619751
HP:0001371	Flexion contracture	7862	BRPF1	OMIM:617333
HP:0001371	Flexion contracture	1001	CDH3	OMIM:225280
HP:0001371	Flexion contracture	5828	PEX2	OMIM:614866
HP:0001371	Flexion contracture	79228	THOC6	ORPHA:363444
HP:0001371	Flexion contracture	4094	MAF	ORPHA:1272
HP:0001371	Flexion contracture	4094	MAF	OMIM:601088
HP:0001371	Flexion contracture	4089	SMAD4	OMIM:139210
HP:0001371	Flexion contracture	11107	PRDM5	ORPHA:90354
HP:0001371	Flexion contracture	84627	ZNF469	ORPHA:90354
HP:0001371	Flexion contracture	8626	TP63	OMIM:603543
HP:0001371	Flexion contracture	8813	DPM1	OMIM:608799
HP:0001371	Flexion contracture	8813	DPM1	ORPHA:79322
HP:0001371	Flexion contracture	79087	ALG12	ORPHA:79324
HP:0001371	Flexion contracture	26100	WIPI2	OMIM:618453
HP:0001371	Flexion contracture	8621	CDK13	OMIM:617360
HP:0001371	Flexion contracture	9427	ECEL1	OMIM:615065
HP:0001371	Flexion contracture	2702	GJA5	OMIM:612474
HP:0001371	Flexion contracture	2703	GJA8	OMIM:612474
HP:0001371	Flexion contracture	1801	DPH1	ORPHA:459061
HP:0001371	Flexion contracture	81848	SPRY4	ORPHA:432
HP:0001371	Flexion contracture	128674	PROKR2	ORPHA:432
HP:0001371	Flexion contracture	60675	PROK2	ORPHA:432
HP:0001371	Flexion contracture	55636	CHD7	ORPHA:432
HP:0001371	Flexion contracture	6870	TACR3	ORPHA:432
HP:0001371	Flexion contracture	1848	DUSP6	ORPHA:432
HP:0001371	Flexion contracture	26012	NSMF	ORPHA:432
HP:0001371	Flexion contracture	55717	WDR11	ORPHA:432
HP:0001371	Flexion contracture	9394	HS6ST1	ORPHA:432
HP:0001371	Flexion contracture	2796	GNRH1	ORPHA:432
HP:0001371	Flexion contracture	2798	GNRHR	ORPHA:432
HP:0001371	Flexion contracture	84634	KISS1R	ORPHA:432
HP:0001371	Flexion contracture	6866	TAC3	ORPHA:432
HP:0001371	Flexion contracture	8822	FGF17	ORPHA:432
HP:0001371	Flexion contracture	3814	KISS1	ORPHA:432
HP:0001371	Flexion contracture	1281	COL3A1	OMIM:618343
HP:0001371	Flexion contracture	9158	FIBP	ORPHA:500095
HP:0001371	Flexion contracture	84162	BLTP1	OMIM:617822
HP:0001371	Flexion contracture	54808	DYM	OMIM:223800
HP:0001371	Flexion contracture	56915	EXOSC5	OMIM:619576
HP:0001371	Flexion contracture	92255	LMBRD2	OMIM:619694
HP:0001371	Flexion contracture	23511	NUP188	OMIM:618804
HP:0001371	Flexion contracture	92344	GORAB	OMIM:231070
HP:0001371	Flexion contracture	29940	DSE	OMIM:615539
HP:0001371	Flexion contracture	727857	BHLHA9	OMIM:607539
HP:0001371	Flexion contracture	10943	MSL3	OMIM:301032
HP:0001371	Flexion contracture	633	BGN	OMIM:300989
HP:0001371	Flexion contracture	79576	NKAP	OMIM:301039
HP:0001371	Flexion contracture	25	ABL1	OMIM:617602
HP:0001371	Flexion contracture	3930	LBR	OMIM:618019
HP:0001371	Flexion contracture	26040	SETBP1	ORPHA:798
HP:0001371	Flexion contracture	6611	SMS	ORPHA:3063
HP:0001371	Flexion contracture	55975	KLHL7	OMIM:617055
HP:0001371	Flexion contracture	51715	RAB23	OMIM:201000
HP:0001371	Flexion contracture	83737	ITCH	OMIM:613385
HP:0001371	Flexion contracture	83737	ITCH	ORPHA:228426
HP:0001371	Flexion contracture	90416	CCDC32	OMIM:619123
HP:0001371	Flexion contracture	139285	AMER1	OMIM:300373
HP:0001371	Flexion contracture	10084	PQBP1	OMIM:309500
HP:0001371	Flexion contracture	6913	TBX15	OMIM:260660
HP:0001371	Flexion contracture	2036	EPB41L1	OMIM:614257
HP:0001371	Flexion contracture	523	ATP6V1A	OMIM:617403
HP:0001371	Flexion contracture	529	ATP6V1E1	OMIM:617402
HP:0001371	Flexion contracture	4233	MET	OMIM:620019
HP:0001371	Flexion contracture	6840	SVIL	OMIM:619040
HP:0001371	Flexion contracture	3861	KRT14	ORPHA:69087
HP:0001371	Flexion contracture	28982	FLVCR1	ORPHA:88628
HP:0001371	Flexion contracture	28982	FLVCR1	OMIM:609033
HP:0001371	Flexion contracture	5159	PDGFRB	OMIM:601812
HP:0001371	Flexion contracture	4921	DDR2	OMIM:618175
HP:0001371	Flexion contracture	22880	MORC2	ORPHA:466768
HP:0001371	Flexion contracture	1859	DYRK1A	ORPHA:464311
HP:0001371	Flexion contracture	64065	PERP	OMIM:619208
HP:0001371	Flexion contracture	1272	CNTN1	OMIM:612540
HP:0001371	Flexion contracture	64423	INF2	OMIM:614455
HP:0001371	Flexion contracture	10280	SIGMAR1	OMIM:605726
HP:0001371	Flexion contracture	10397	NDRG1	OMIM:601455
HP:0001371	Flexion contracture	3315	HSPB1	OMIM:606595
HP:0001371	Flexion contracture	8566	PDXK	OMIM:618511
HP:0001371	Flexion contracture	3098	HK1	OMIM:605285
HP:0001371	Flexion contracture	3481	IGF2	OMIM:616489
HP:0001371	Flexion contracture	57038	RARS2	OMIM:611523
HP:0001371	Flexion contracture	5528	PPP2R5D	ORPHA:457279
HP:0001371	Flexion contracture	259232	NALCN	ORPHA:2053
HP:0001371	Flexion contracture	259232	NALCN	ORPHA:1146
HP:0001371	Flexion contracture	8294	H4C9	OMIM:619951
HP:0001371	Flexion contracture	8838	CCN6	OMIM:208230
HP:0001371	Flexion contracture	1947	EFNB1	ORPHA:1520
HP:0001371	Flexion contracture	7355	SLC35A2	ORPHA:356961
HP:0001371	Flexion contracture	5077	PAX3	ORPHA:1529
HP:0001371	Flexion contracture	5077	PAX3	ORPHA:896
HP:0001371	Flexion contracture	5077	PAX3	OMIM:148820
HP:0001371	Flexion contracture	9241	NOG	ORPHA:3250
HP:0001371	Flexion contracture	613	BCR	ORPHA:261330
HP:0001371	Flexion contracture	1399	CRKL	ORPHA:261330
HP:0001371	Flexion contracture	5594	MAPK1	ORPHA:261330
HP:0001371	Flexion contracture	84466	MEGF10	OMIM:614399
HP:0001371	Flexion contracture	72	ACTG2	ORPHA:2604
HP:0001371	Flexion contracture	10216	PRG4	ORPHA:2848
HP:0001371	Flexion contracture	3508	IGHMBP2	OMIM:604320
HP:0001371	Flexion contracture	6926	TBX3	ORPHA:3138
HP:0001371	Flexion contracture	51360	MBTPS2	ORPHA:2273
HP:0001371	Flexion contracture	10381	TUBB3	OMIM:600638
HP:0001371	Flexion contracture	64359	NXN	ORPHA:1507
HP:0001371	Flexion contracture	4920	ROR2	ORPHA:1507
HP:0001371	Flexion contracture	2697	GJA1	ORPHA:2710
HP:0001371	Flexion contracture	2697	GJA1	ORPHA:93404
HP:0001371	Flexion contracture	64127	NOD2	OMIM:186580
HP:0001371	Flexion contracture	64127	NOD2	ORPHA:90340
HP:0001371	Flexion contracture	6999	TDO2	OMIM:600627
HP:0001371	Flexion contracture	1301	COL11A1	ORPHA:2021
HP:0001371	Flexion contracture	10716	TBR1	ORPHA:1617
HP:0001371	Flexion contracture	4593	MUSK	OMIM:208150
HP:0001371	Flexion contracture	4593	MUSK	ORPHA:994
HP:0001371	Flexion contracture	56006	SMG9	OMIM:616920
HP:0001371	Flexion contracture	1857	DVL3	ORPHA:3107
HP:0001371	Flexion contracture	7474	WNT5A	ORPHA:3107
HP:0001371	Flexion contracture	1855	DVL1	ORPHA:3107
HP:0001371	Flexion contracture	2535	FZD2	ORPHA:3107
HP:0001371	Flexion contracture	9508	ADAMTS3	ORPHA:2136
HP:0001371	Flexion contracture	147372	CCBE1	ORPHA:2136
HP:0001371	Flexion contracture	79633	FAT4	ORPHA:2136
HP:0001371	Flexion contracture	5189	PEX1	ORPHA:3220
HP:0001371	Flexion contracture	5190	PEX6	ORPHA:3220
HP:0001371	Flexion contracture	5590	PRKCZ	ORPHA:1606
HP:0001371	Flexion contracture	2563	GABRD	ORPHA:1606
HP:0001371	Flexion contracture	23013	SPEN	ORPHA:1606
HP:0001371	Flexion contracture	8510	MMP23B	ORPHA:1606
HP:0001371	Flexion contracture	7798	LUZP1	ORPHA:1606
HP:0001371	Flexion contracture	6497	SKI	ORPHA:1606
HP:0001371	Flexion contracture	6497	SKI	ORPHA:2462
HP:0001371	Flexion contracture	10630	PDPN	ORPHA:1606
HP:0001371	Flexion contracture	10277	UBE4B	ORPHA:1606
HP:0001371	Flexion contracture	8514	KCNAB2	ORPHA:1606
HP:0001371	Flexion contracture	473	RERE	ORPHA:1606
HP:0001371	Flexion contracture	63976	PRDM16	ORPHA:1606
HP:0001371	Flexion contracture	54897	CASZ1	ORPHA:1606
HP:0001371	Flexion contracture	9719	ADAMTSL2	OMIM:231050
HP:0001371	Flexion contracture	4952	OCRL	OMIM:309000
HP:0001371	Flexion contracture	8517	IKBKG	ORPHA:464
HP:0001371	Flexion contracture	10436	EMG1	ORPHA:1270
HP:0001371	Flexion contracture	57492	ARID1B	ORPHA:251056
HP:0001371	Flexion contracture	2239	GPC4	ORPHA:373
HP:0001371	Flexion contracture	2719	GPC3	ORPHA:373
HP:0001371	Flexion contracture	23483	TGDS	ORPHA:1388
HP:0001371	Flexion contracture	7140	TNNT3	ORPHA:1146
HP:0001371	Flexion contracture	7136	TNNI2	ORPHA:1146
HP:0001371	Flexion contracture	7136	TNNI2	OMIM:601680
HP:0001371	Flexion contracture	6885	MAP3K7	ORPHA:1826
HP:0001371	Flexion contracture	117581	TWIST2	ORPHA:920
HP:0001371	Flexion contracture	23512	SUZ12	ORPHA:3447
HP:0001371	Flexion contracture	2146	EZH2	ORPHA:3447
HP:0001371	Flexion contracture	1723	DHODH	ORPHA:246
HP:0001371	Flexion contracture	257	ALX3	ORPHA:391474
HP:0001371	Flexion contracture	3239	HOXD13	OMIM:186300
HP:0001371	Flexion contracture	3239	HOXD13	ORPHA:93406
HP:0001371	Flexion contracture	54903	MKS1	OMIM:249000
HP:0001371	Flexion contracture	22930	RAB3GAP1	OMIM:619420
HP:0001371	Flexion contracture	7046	TGFBR1	ORPHA:60030
HP:0001371	Flexion contracture	10526	IPO8	ORPHA:60030
HP:0001371	Flexion contracture	3897	L1CAM	ORPHA:2466
HP:0001371	Flexion contracture	2245	FGD1	ORPHA:915
HP:0001371	Flexion contracture	7227	TRPS1	ORPHA:77258
HP:0001371	Flexion contracture	4088	SMAD3	ORPHA:284984
HP:0001371	Flexion contracture	27238	GPKOW	ORPHA:2570
HP:0001371	Flexion contracture	10466	COG5	ORPHA:263487
HP:0001371	Flexion contracture	55315	SLC29A3	OMIM:602782
HP:0001371	Flexion contracture	23102	TBC1D2B	OMIM:619323
HP:0001371	Flexion contracture	51114	ZDHHC9	ORPHA:776
HP:0001371	Flexion contracture	65109	UPF3B	ORPHA:776
HP:0001371	Flexion contracture	114548	NLRP3	ORPHA:575
HP:0001371	Flexion contracture	2073	ERCC5	ORPHA:1466
HP:0001371	Flexion contracture	134701	RIPPLY2	ORPHA:2311
HP:0001371	Flexion contracture	10683	DLL3	ORPHA:2311
HP:0001371	Flexion contracture	3955	LFNG	ORPHA:2311
HP:0001371	Flexion contracture	84667	HES7	ORPHA:2311
HP:0001371	Flexion contracture	145873	MESP2	ORPHA:2311
HP:0001371	Flexion contracture	81620	CDT1	ORPHA:2554
HP:0001371	Flexion contracture	5000	ORC4	ORPHA:2554
HP:0001371	Flexion contracture	23594	ORC6	ORPHA:2554
HP:0001371	Flexion contracture	8318	CDC45	ORPHA:2554
HP:0001371	Flexion contracture	990	CDC6	ORPHA:2554
HP:0001371	Flexion contracture	51053	GMNN	ORPHA:2554
HP:0001371	Flexion contracture	8260	NAA10	ORPHA:568
HP:0001371	Flexion contracture	64327	LMBR1	ORPHA:93405
HP:0001371	Flexion contracture	4927	NUP88	ORPHA:994
HP:0001371	Flexion contracture	7846	TUBA1A	ORPHA:994
HP:0001371	Flexion contracture	4654	MYOD1	ORPHA:994
HP:0001371	Flexion contracture	6572	SLC18A3	ORPHA:994
HP:0001371	Flexion contracture	285489	DOK7	ORPHA:994
HP:0001371	Flexion contracture	3914	LAMB3	OMIM:226650
HP:0001371	Flexion contracture	9150	CTDP1	ORPHA:48431
HP:0001371	Flexion contracture	8092	ALX1	ORPHA:306542
HP:0001371	Flexion contracture	29895	MYL11	OMIM:619110
HP:0001371	Flexion contracture	64840	PORCN	ORPHA:2092
HP:0001371	Flexion contracture	23443	SLC35A3	OMIM:615553
HP:0001371	Flexion contracture	285590	SH3PXD2B	ORPHA:137834
HP:0001371	Flexion contracture	9935	MAFB	ORPHA:2774
HP:0001371	Flexion contracture	28952	CCDC22	OMIM:300963
HP:0001371	Flexion contracture	8450	CUL4B	ORPHA:85293
HP:0001371	Flexion contracture	26092	TOR1AIP1	OMIM:617072
HP:0001371	Flexion contracture	2261	FGFR3	ORPHA:85164
HP:0001371	Flexion contracture	23522	KAT6B	ORPHA:3047
HP:0001371	Flexion contracture	26123	TCTN3	ORPHA:2753
HP:0001371	Flexion contracture	64131	XYLT1	ORPHA:1425
HP:0001371	Flexion contracture	124583	CANT1	ORPHA:1425
HP:0001371	Flexion contracture	55790	CSGALNACT1	ORPHA:1425
HP:0001371	Flexion contracture	51002	TPRKB	ORPHA:2065
HP:0001371	Flexion contracture	84942	WDR73	ORPHA:2065
HP:0001371	Flexion contracture	55644	OSGEP	ORPHA:2065
HP:0001371	Flexion contracture	57122	NUP107	ORPHA:2065
HP:0001371	Flexion contracture	55746	NUP133	ORPHA:2065
HP:0001371	Flexion contracture	112858	TP53RK	ORPHA:2065
HP:0001371	Flexion contracture	8270	LAGE3	ORPHA:2065
HP:0001371	Flexion contracture	56916	SMARCAD1	ORPHA:1658
HP:0005054	Metaphyseal spurs	6399	TRAPPC2	ORPHA:93284
HP:0005054	Metaphyseal spurs	4148	MATN3	OMIM:608728
HP:0005054	Metaphyseal spurs	79659	DYNC2H1	OMIM:613091
HP:0005054	Metaphyseal spurs	538	ATP7A	OMIM:309400
HP:0005054	Metaphyseal spurs	1280	COL2A1	ORPHA:166011
HP:0005054	Metaphyseal spurs	388015	RTL1	ORPHA:96334
HP:0005054	Metaphyseal spurs	8788	DLK1	ORPHA:96334
HP:0005054	Metaphyseal spurs	55384	MEG3	ORPHA:96334
HP:0005054	Metaphyseal spurs	5130	PCYT1A	ORPHA:85167
HP:0005054	Metaphyseal spurs	55503	TRPV6	OMIM:618188
HP:0100000	Early onset of sexual maturation	3265	HRAS	ORPHA:79414
HP:0100000	Early onset of sexual maturation	3265	HRAS	OMIM:163200
HP:0100000	Early onset of sexual maturation	3265	HRAS	ORPHA:2874
HP:0100000	Early onset of sexual maturation	9563	H6PD	OMIM:604931
HP:0100000	Early onset of sexual maturation	2737	GLI3	ORPHA:672
HP:0100000	Early onset of sexual maturation	2737	GLI3	OMIM:146510
HP:0100000	Early onset of sexual maturation	388015	RTL1	ORPHA:254531
HP:0100000	Early onset of sexual maturation	388015	RTL1	ORPHA:96184
HP:0100000	Early onset of sexual maturation	388015	RTL1	ORPHA:254525
HP:0100000	Early onset of sexual maturation	8788	DLK1	ORPHA:254531
HP:0100000	Early onset of sexual maturation	8788	DLK1	ORPHA:96184
HP:0100000	Early onset of sexual maturation	8788	DLK1	ORPHA:254525
HP:0100000	Early onset of sexual maturation	55384	MEG3	ORPHA:254531
HP:0100000	Early onset of sexual maturation	55384	MEG3	ORPHA:96184
HP:0100000	Early onset of sexual maturation	55384	MEG3	ORPHA:254525
HP:0100000	Early onset of sexual maturation	3643	INSR	OMIM:262190
HP:0100000	Early onset of sexual maturation	3643	INSR	OMIM:246200
HP:0100000	Early onset of sexual maturation	3643	INSR	ORPHA:769
HP:0100000	Early onset of sexual maturation	9757	KMT2B	ORPHA:589618
HP:0100000	Early onset of sexual maturation	23013	SPEN	OMIM:619312
HP:0100000	Early onset of sexual maturation	5281	PIGF	OMIM:619356
HP:0100000	Early onset of sexual maturation	8367	H4C5	OMIM:619950
HP:0100000	Early onset of sexual maturation	57061	HYMAI	ORPHA:96191
HP:0100000	Early onset of sexual maturation	5325	PLAGL1	ORPHA:96191
HP:0100000	Early onset of sexual maturation	2778	GNAS	OMIM:174800
HP:0100000	Early onset of sexual maturation	2778	GNAS	ORPHA:562
HP:0100000	Early onset of sexual maturation	2132	EXT2	OMIM:616682
HP:0100000	Early onset of sexual maturation	51604	PIGT	ORPHA:369837
HP:0100000	Early onset of sexual maturation	7249	TSC2	OMIM:613254
HP:0100000	Early onset of sexual maturation	3458	IFNG	OMIM:613254
HP:0100000	Early onset of sexual maturation	7355	SLC35A2	ORPHA:356961
HP:0100000	Early onset of sexual maturation	6804	STX1A	ORPHA:904
HP:0100000	Early onset of sexual maturation	7461	CLIP2	ORPHA:904
HP:0100000	Early onset of sexual maturation	84277	DNAJC30	ORPHA:904
HP:0100000	Early onset of sexual maturation	8468	FKBP6	ORPHA:904
HP:0100000	Early onset of sexual maturation	5982	RFC2	ORPHA:904
HP:0100000	Early onset of sexual maturation	2969	GTF2I	ORPHA:904
HP:0100000	Early onset of sexual maturation	3984	LIMK1	ORPHA:904
HP:0100000	Early onset of sexual maturation	9569	GTF2IRD1	ORPHA:904
HP:0100000	Early onset of sexual maturation	155382	VPS37D	ORPHA:904
HP:0100000	Early onset of sexual maturation	155368	METTL27	ORPHA:904
HP:0100000	Early onset of sexual maturation	114049	BUD23	ORPHA:904
HP:0100000	Early onset of sexual maturation	7458	EIF4H	ORPHA:904
HP:0100000	Early onset of sexual maturation	84163	GTF2IRD2	ORPHA:904
HP:0100000	Early onset of sexual maturation	9275	BCL7B	ORPHA:904
HP:0100000	Early onset of sexual maturation	26608	TBL2	ORPHA:904
HP:0100000	Early onset of sexual maturation	653361	NCF1	ORPHA:904
HP:0100000	Early onset of sexual maturation	135886	TMEM270	ORPHA:904
HP:0100000	Early onset of sexual maturation	51085	MLXIPL	ORPHA:904
HP:0100000	Early onset of sexual maturation	9031	BAZ1B	ORPHA:904
HP:0100000	Early onset of sexual maturation	2006	ELN	ORPHA:904
HP:0100000	Early onset of sexual maturation	116115	ZNF526	OMIM:619877
HP:0100000	Early onset of sexual maturation	10586	MAB21L2	OMIM:615877
HP:0100000	Early onset of sexual maturation	3845	KRAS	OMIM:163200
HP:0100000	Early onset of sexual maturation	4893	NRAS	OMIM:163200
HP:0100000	Early onset of sexual maturation	4796	TONSL	ORPHA:93357
HP:0100000	Early onset of sexual maturation	2908	NR3C1	ORPHA:786
HP:0100000	Early onset of sexual maturation	7681	MKRN3	OMIM:176270
HP:0100000	Early onset of sexual maturation	3653	IPW	OMIM:176270
HP:0100000	Early onset of sexual maturation	54551	MAGEL2	OMIM:176270
HP:0100000	Early onset of sexual maturation	54551	MAGEL2	ORPHA:98754
HP:0100000	Early onset of sexual maturation	54551	MAGEL2	ORPHA:177904
HP:0100000	Early onset of sexual maturation	54551	MAGEL2	ORPHA:177901
HP:0100000	Early onset of sexual maturation	54551	MAGEL2	ORPHA:398069
HP:0100000	Early onset of sexual maturation	791114	PWRN1	OMIM:176270
HP:0100000	Early onset of sexual maturation	100033413	SNORD116-1	OMIM:176270
HP:0100000	Early onset of sexual maturation	8924	HERC2	OMIM:176270
HP:0100000	Early onset of sexual maturation	145624	PWAR1	OMIM:176270
HP:0100000	Early onset of sexual maturation	23742	NPAP1	OMIM:176270
HP:0100000	Early onset of sexual maturation	338433	SNORD115-1	OMIM:176270
HP:0100000	Early onset of sexual maturation	26047	CNTNAP2	ORPHA:163681
HP:0100000	Early onset of sexual maturation	10236	HNRNPR	OMIM:620073
HP:0100000	Early onset of sexual maturation	2887	GRB10	ORPHA:96182
HP:0100000	Early onset of sexual maturation	4784	NFIX	ORPHA:447980
HP:0100000	Early onset of sexual maturation	190	NR0B1	OMIM:300200
HP:0100000	Early onset of sexual maturation	79813	EHMT1	ORPHA:261652
HP:0100000	Early onset of sexual maturation	58508	KMT2C	ORPHA:261652
HP:0100000	Early onset of sexual maturation	284058	KANSL1	ORPHA:363965
HP:0100000	Early onset of sexual maturation	284058	KANSL1	ORPHA:363958
HP:0100000	Early onset of sexual maturation	51715	RAB23	OMIM:201000
HP:0100000	Early onset of sexual maturation	80816	ASXL3	OMIM:615485
HP:0100000	Early onset of sexual maturation	23112	TNRC6B	OMIM:619243
HP:0100000	Early onset of sexual maturation	28514	DLL1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	2253	FGF8	ORPHA:280195
HP:0100000	Early onset of sexual maturation	6496	SIX3	ORPHA:280195
HP:0100000	Early onset of sexual maturation	7050	TGIF1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	4838	NODAL	ORPHA:280195
HP:0100000	Early onset of sexual maturation	6469	SHH	ORPHA:280195
HP:0100000	Early onset of sexual maturation	7546	ZIC2	ORPHA:280195
HP:0100000	Early onset of sexual maturation	6491	STIL	ORPHA:280195
HP:0100000	Early onset of sexual maturation	2619	GAS1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	84976	DISP1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	2736	GLI2	ORPHA:280195
HP:0100000	Early onset of sexual maturation	8928	FOXH1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	5727	PTCH1	ORPHA:280195
HP:0100000	Early onset of sexual maturation	50937	CDON	ORPHA:280195
HP:0100000	Early onset of sexual maturation	6492	SIM1	ORPHA:398079
HP:0100000	Early onset of sexual maturation	8085	KMT2D	ORPHA:2322
HP:0100000	Early onset of sexual maturation	7403	KDM6A	ORPHA:2322
HP:0100000	Early onset of sexual maturation	23096	IQSEC2	ORPHA:217377
HP:0100000	Early onset of sexual maturation	23096	IQSEC2	ORPHA:819
HP:0100000	Early onset of sexual maturation	1654	DDX3X	OMIM:300958
HP:0100000	Early onset of sexual maturation	1654	DDX3X	ORPHA:457260
HP:0100000	Early onset of sexual maturation	2314	FLII	ORPHA:819
HP:0100000	Early onset of sexual maturation	10743	RAI1	ORPHA:819
HP:0100000	Early onset of sexual maturation	10522	DEAF1	ORPHA:819
HP:0100000	Early onset of sexual maturation	7248	TSC1	OMIM:191100
HP:0100000	Early onset of sexual maturation	10847	SRCAP	ORPHA:2044
HP:0100000	Early onset of sexual maturation	5573	PRKAR1A	ORPHA:1359
HP:0100000	Early onset of sexual maturation	50940	PDE11A	ORPHA:1359
HP:0100000	Early onset of sexual maturation	6638	SNRPN	ORPHA:98754
HP:0100000	Early onset of sexual maturation	6638	SNRPN	ORPHA:177904
HP:0100000	Early onset of sexual maturation	6638	SNRPN	ORPHA:177901
HP:0100000	Early onset of sexual maturation	4692	NDN	ORPHA:98754
HP:0100000	Early onset of sexual maturation	4692	NDN	ORPHA:177904
HP:0100000	Early onset of sexual maturation	4692	NDN	ORPHA:177901
HP:0100000	Early onset of sexual maturation	4948	OCA2	ORPHA:98754
HP:0100000	Early onset of sexual maturation	4948	OCA2	ORPHA:177904
HP:0100000	Early onset of sexual maturation	4948	OCA2	ORPHA:177901
HP:0100000	Early onset of sexual maturation	7030	TFE3	OMIM:301066
HP:0100000	Early onset of sexual maturation	5745	PTH1R	ORPHA:296
HP:0100000	Early onset of sexual maturation	3418	IDH2	ORPHA:296
HP:0100000	Early onset of sexual maturation	3417	IDH1	ORPHA:296
HP:0100000	Early onset of sexual maturation	5116	PCNT	ORPHA:2637
HP:0100000	Early onset of sexual maturation	5116	PCNT	OMIM:210720
HP:0100000	Early onset of sexual maturation	1717	DHCR7	OMIM:270400
HP:0100000	Early onset of sexual maturation	56246	MRAP	ORPHA:361
HP:0100000	Early onset of sexual maturation	6770	STAR	ORPHA:361
HP:0100000	Early onset of sexual maturation	4158	MC2R	ORPHA:361
HP:0100000	Early onset of sexual maturation	23530	NNT	ORPHA:361
HP:0100000	Early onset of sexual maturation	23530	NNT	OMIM:614736
HP:0100000	Early onset of sexual maturation	10587	TXNRD2	ORPHA:361
HP:0100000	Early onset of sexual maturation	10943	MSL3	OMIM:301032
HP:0100000	Early onset of sexual maturation	55553	SOX6	OMIM:618971
HP:0100000	Early onset of sexual maturation	375056	MIA3	OMIM:619269
HP:0100000	Early onset of sexual maturation	53834	FGFRL1	OMIM:194190
HP:0100000	Early onset of sexual maturation	1487	CTBP1	OMIM:194190
HP:0100000	Early onset of sexual maturation	3954	LETM1	OMIM:194190
HP:0100000	Early onset of sexual maturation	7468	NSD2	OMIM:194190
HP:0100000	Early onset of sexual maturation	10815	CPLX1	OMIM:194190
HP:0100000	Early onset of sexual maturation	6792	CDKL5	ORPHA:1934
HP:0100000	Early onset of sexual maturation	3736	KCNA1	ORPHA:1934
HP:0100000	Early onset of sexual maturation	9091	PIGQ	ORPHA:1934
HP:0100000	Early onset of sexual maturation	2775	GNAO1	ORPHA:1934
HP:0100000	Early onset of sexual maturation	81603	TRIM8	ORPHA:1934
HP:0100000	Early onset of sexual maturation	2902	GRIN1	ORPHA:1934
HP:0100000	Early onset of sexual maturation	79751	SLC25A22	ORPHA:1934
HP:0100000	Early onset of sexual maturation	150094	SIK1	ORPHA:1934
HP:0100000	Early onset of sexual maturation	8573	CASK	ORPHA:1934
HP:0100000	Early onset of sexual maturation	23312	DMXL2	ORPHA:1934
HP:0100000	Early onset of sexual maturation	2917	GRM7	ORPHA:1934
HP:0100000	Early onset of sexual maturation	170302	ARX	ORPHA:1934
HP:0100000	Early onset of sexual maturation	11284	PNKP	ORPHA:1934
HP:0100000	Early onset of sexual maturation	6326	SCN2A	ORPHA:1934
HP:0100000	Early onset of sexual maturation	51227	PIGP	ORPHA:1934
HP:0100000	Early onset of sexual maturation	6324	SCN1B	ORPHA:1934
HP:0100000	Early onset of sexual maturation	4761	NEUROD2	ORPHA:1934
HP:0100000	Early onset of sexual maturation	4763	NF1	ORPHA:97685
HP:0100000	Early onset of sexual maturation	158326	FREM1	OMIM:608980
HP:0100000	Early onset of sexual maturation	4000	LMNA	ORPHA:2229
HP:0100000	Early onset of sexual maturation	2313	FLI1	ORPHA:370348
HP:0100000	Early onset of sexual maturation	4089	SMAD4	ORPHA:2588
HP:0100000	Early onset of sexual maturation	3973	LHCGR	OMIM:176410
HP:0100000	Early onset of sexual maturation	1584	CYP11B1	OMIM:202010
HP:0100000	Early onset of sexual maturation	6794	STK11	OMIM:175200
HP:0100000	Early onset of sexual maturation	4041	LRP5	ORPHA:2788
HP:0100000	Early onset of sexual maturation	84634	KISS1R	OMIM:176400
HP:0100000	Early onset of sexual maturation	4313	MMP2	ORPHA:371428
HP:0100000	Early onset of sexual maturation	4323	MMP14	ORPHA:371428
HP:0100000	Early onset of sexual maturation	1387	CREBBP	OMIM:180849
HP:0100000	Early onset of sexual maturation	2033	EP300	OMIM:180849
HP:0100000	Early onset of sexual maturation	1859	DYRK1A	ORPHA:268261
HP:0100000	Early onset of sexual maturation	1984	EIF5A	OMIM:619376
HP:0100000	Early onset of sexual maturation	2890	GRIA1	OMIM:619931
HP:0100000	Early onset of sexual maturation	7840	ALMS1	ORPHA:64
HP:0100000	Early onset of sexual maturation	5468	PPARG	ORPHA:528
HP:0100000	Early onset of sexual maturation	10555	AGPAT2	ORPHA:528
HP:0100000	Early onset of sexual maturation	284119	CAVIN1	ORPHA:528
HP:0100000	Early onset of sexual maturation	26580	BSCL2	ORPHA:528
HP:0100000	Early onset of sexual maturation	2353	FOS	ORPHA:528
HP:0100000	Early onset of sexual maturation	857	CAV1	ORPHA:528
HP:0100000	Early onset of sexual maturation	1586	CYP17A1	ORPHA:90793
HP:0100000	Early onset of sexual maturation	3284	HSD3B2	OMIM:201810
HP:0100000	Early onset of sexual maturation	3290	HSD11B1	OMIM:614662
HP:0100000	Early onset of sexual maturation	128989	TANGO2	OMIM:616878
HP:0100000	Early onset of sexual maturation	4221	MEN1	ORPHA:99725
HP:0100000	Early onset of sexual maturation	9049	AIP	ORPHA:99725
HP:0100000	Early onset of sexual maturation	9060	PAPSS2	OMIM:612847
HP:0100000	Early onset of sexual maturation	7874	USP7	OMIM:616863
HP:0100001	Malignant mesothelioma	7490	WT1	OMIM:156240
HP:0100001	Malignant mesothelioma	8915	BCL10	OMIM:156240
HP:0100001	Malignant mesothelioma	8314	BAP1	OMIM:614327
HP:0100006	Neoplasm of the central nervous system	2737	GLI3	ORPHA:672
HP:0100006	Neoplasm of the central nervous system	2737	GLI3	OMIM:146510
HP:0100006	Neoplasm of the central nervous system	8481	OFD1	OMIM:311200
HP:0100006	Neoplasm of the central nervous system	8481	OFD1	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	64601	VPS16	OMIM:619291
HP:0100006	Neoplasm of the central nervous system	4990	SIX6	OMIM:206900
HP:0100006	Neoplasm of the central nervous system	6657	SOX2	OMIM:206900
HP:0100006	Neoplasm of the central nervous system	4123	MAN2C1	OMIM:619775
HP:0100006	Neoplasm of the central nervous system	65250	CPLANE1	OMIM:277170
HP:0100006	Neoplasm of the central nervous system	65250	CPLANE1	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	7074	TIAM1	OMIM:619908
HP:0100006	Neoplasm of the central nervous system	10210	TOPORS	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	9851	KIAA0753	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	26123	TCTN3	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	5147	PDE6D	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	51259	TMEM216	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	317662	FAM149B1	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	374654	KIF7	ORPHA:2754
HP:0100006	Neoplasm of the central nervous system	4221	MEN1	ORPHA:652
HP:0100006	Neoplasm of the central nervous system	1027	CDKN1B	ORPHA:652
HP:0100006	Neoplasm of the central nervous system	1026	CDKN1A	ORPHA:652
HP:0100006	Neoplasm of the central nervous system	1030	CDKN2B	ORPHA:652
HP:0100006	Neoplasm of the central nervous system	1031	CDKN2C	ORPHA:652
HP:0100006	Neoplasm of the central nervous system	4763	NF1	OMIM:162200
HP:0100006	Neoplasm of the central nervous system	4913	NTHL1	ORPHA:454840
HP:0100006	Neoplasm of the central nervous system	4913	NTHL1	OMIM:616415
HP:0100006	Neoplasm of the central nervous system	1387	CREBBP	ORPHA:353277
HP:0100006	Neoplasm of the central nervous system	1387	CREBBP	ORPHA:353281
HP:0100006	Neoplasm of the central nervous system	8930	MBD4	OMIM:619975
HP:0100006	Neoplasm of the central nervous system	7486	WRN	ORPHA:902
HP:0100006	Neoplasm of the central nervous system	7486	WRN	OMIM:277700
HP:0100006	Neoplasm of the central nervous system	11235	PDCD10	ORPHA:221061
HP:0100006	Neoplasm of the central nervous system	83605	CCM2	ORPHA:221061
HP:0100006	Neoplasm of the central nervous system	889	KRIT1	ORPHA:221061
HP:0100006	Neoplasm of the central nervous system	8665	EIF3F	OMIM:618295
HP:0100006	Neoplasm of the central nervous system	4893	NRAS	OMIM:249400
HP:0100006	Neoplasm of the central nervous system	79798	ARMC5	ORPHA:189427
HP:0100006	Neoplasm of the central nervous system	2778	GNAS	ORPHA:189427
HP:0100006	Neoplasm of the central nervous system	2033	EP300	ORPHA:353284
HP:0100006	Neoplasm of the central nervous system	4000	LMNA	ORPHA:79474
HP:0100006	Neoplasm of the central nervous system	4330	MN1	OMIM:607174
HP:0100006	Neoplasm of the central nervous system	5727	PTCH1	ORPHA:77301
HP:0100006	Neoplasm of the central nervous system	5727	PTCH1	OMIM:109400
HP:0100006	Neoplasm of the central nervous system	171023	ASXL1	ORPHA:97297
HP:0100006	Neoplasm of the central nervous system	23432	GPR161	OMIM:155255
HP:0100006	Neoplasm of the central nervous system	8518	ELP1	OMIM:155255
HP:0100006	Neoplasm of the central nervous system	8643	PTCH2	OMIM:155255
HP:0100006	Neoplasm of the central nervous system	1499	CTNNB1	OMIM:155255
HP:0100006	Neoplasm of the central nervous system	26040	SETBP1	ORPHA:798
HP:0100006	Neoplasm of the central nervous system	7528	YY1	ORPHA:506358
HP:0100006	Neoplasm of the central nervous system	2239	GPC4	ORPHA:373
HP:0100006	Neoplasm of the central nervous system	2719	GPC3	ORPHA:373
HP:0100006	Neoplasm of the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	2563	GABRD	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	23013	SPEN	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	8510	MMP23B	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	7798	LUZP1	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	6497	SKI	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	10630	PDPN	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	3339	HSPG2	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	10277	UBE4B	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	473	RERE	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	63976	PRDM16	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	54897	CASZ1	ORPHA:1606
HP:0100006	Neoplasm of the central nervous system	5781	PTPN11	ORPHA:500
HP:0100006	Neoplasm of the central nervous system	673	BRAF	ORPHA:500
HP:0100006	Neoplasm of the central nervous system	5894	RAF1	ORPHA:500
HP:0100006	Neoplasm of the central nervous system	64324	NSD1	ORPHA:821
HP:0100006	Neoplasm of the central nervous system	29072	SETD2	ORPHA:821
HP:0100006	Neoplasm of the central nervous system	10297	APC2	ORPHA:821
HP:0100006	Neoplasm of the central nervous system	861	RUNX1	OMIM:601399
HP:0100006	Neoplasm of the central nervous system	79728	PALB2	OMIM:610832
HP:0100006	Neoplasm of the central nervous system	5979	RET	ORPHA:99803
HP:0100006	Neoplasm of the central nervous system	429	ASCL1	ORPHA:99803
HP:0100006	Neoplasm of the central nervous system	23476	BRD4	ORPHA:443167
HP:0100006	Neoplasm of the central nervous system	256646	NUTM1	ORPHA:443167
HP:0100006	Neoplasm of the central nervous system	8929	PHOX2B	OMIM:613013
HP:0100006	Neoplasm of the central nervous system	8929	PHOX2B	ORPHA:661
HP:0100006	Neoplasm of the central nervous system	8929	PHOX2B	ORPHA:2151
HP:0100006	Neoplasm of the central nervous system	8929	PHOX2B	OMIM:209880
HP:0100006	Neoplasm of the central nervous system	1908	EDN3	ORPHA:661
HP:0100006	Neoplasm of the central nervous system	2668	GDNF	ORPHA:661
HP:0100006	Neoplasm of the central nervous system	627	BDNF	ORPHA:661
HP:0100006	Neoplasm of the central nervous system	283446	MYO1H	ORPHA:661
HP:0100006	Neoplasm of the central nervous system	23095	KIF1B	OMIM:256700
HP:0100006	Neoplasm of the central nervous system	203068	TUBB	ORPHA:2505
HP:0100006	Neoplasm of the central nervous system	203068	TUBB	OMIM:156610
HP:0100006	Neoplasm of the central nervous system	10982	MAPRE2	ORPHA:2505
HP:0100006	Neoplasm of the central nervous system	57688	ZSWIM6	ORPHA:1827
HP:0100006	Neoplasm of the central nervous system	7428	VHL	ORPHA:892
HP:0100006	Neoplasm of the central nervous system	7428	VHL	OMIM:193300
HP:0100006	Neoplasm of the central nervous system	595	CCND1	ORPHA:892
HP:0100006	Neoplasm of the central nervous system	595	CCND1	OMIM:193300
HP:0100006	Neoplasm of the central nervous system	257	ALX3	OMIM:136760
HP:0100006	Neoplasm of the central nervous system	257	ALX3	ORPHA:391474
HP:0100006	Neoplasm of the central nervous system	8092	ALX1	ORPHA:306542
HP:0100006	Neoplasm of the central nervous system	9817	KEAP1	ORPHA:276399
HP:0100006	Neoplasm of the central nervous system	23405	DICER1	ORPHA:276399
HP:0100006	Neoplasm of the central nervous system	4437	MSH3	OMIM:617100
HP:0100006	Neoplasm of the central nervous system	4437	MSH3	ORPHA:480536
HP:0100006	Neoplasm of the central nervous system	3418	IDH2	ORPHA:163634
HP:0100006	Neoplasm of the central nervous system	1743	DLST	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	4191	MDH2	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	6389	SDHA	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	2271	FH	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	8402	SLC25A11	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	54949	SDHAF2	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	55654	TMEM127	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	4149	MAX	ORPHA:29072
HP:0100006	Neoplasm of the central nervous system	2639	GCDH	ORPHA:25
HP:0100006	Neoplasm of the central nervous system	25913	POT1	OMIM:616568
HP:0100006	Neoplasm of the central nervous system	4683	NBN	OMIM:251260
HP:0100006	Neoplasm of the central nervous system	4683	NBN	ORPHA:647
HP:0100006	Neoplasm of the central nervous system	7249	TSC2	OMIM:613254
HP:0100006	Neoplasm of the central nervous system	3458	IFNG	OMIM:613254
HP:0100006	Neoplasm of the central nervous system	7248	TSC1	OMIM:191100
HP:0100006	Neoplasm of the central nervous system	8216	LZTR1	OMIM:615670
HP:0100006	Neoplasm of the central nervous system	2313	FLI1	ORPHA:370348
HP:0100006	Neoplasm of the central nervous system	657	BMPR1A	ORPHA:79076
HP:0100006	Neoplasm of the central nervous system	5925	RB1	OMIM:180200
HP:0100006	Neoplasm of the central nervous system	64218	SEMA4A	ORPHA:440437
HP:0100006	Neoplasm of the central nervous system	6224	RPS20	ORPHA:440437
HP:0100006	Neoplasm of the central nervous system	4072	EPCAM	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	4292	MLH1	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	4292	MLH1	OMIM:276300
HP:0100006	Neoplasm of the central nervous system	5395	PMS2	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	5395	PMS2	OMIM:619101
HP:0100006	Neoplasm of the central nervous system	27030	MLH3	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	22909	FAN1	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	7048	TGFBR2	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	3845	KRAS	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	2956	MSH6	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	2956	MSH6	OMIM:619097
HP:0100006	Neoplasm of the central nervous system	5378	PMS1	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	4436	MSH2	ORPHA:144
HP:0100006	Neoplasm of the central nervous system	4436	MSH2	OMIM:619096
HP:0100006	Neoplasm of the central nervous system	675	BRCA2	OMIM:613029
HP:0100006	Neoplasm of the central nervous system	2064	ERBB2	OMIM:137800
HP:0100006	Neoplasm of the central nervous system	3417	IDH1	OMIM:137800
HP:0100006	Neoplasm of the central nervous system	5426	POLE	ORPHA:447877
HP:0100006	Neoplasm of the central nervous system	5424	POLD1	ORPHA:447877
HP:0100006	Neoplasm of the central nervous system	7373	COL14A1	ORPHA:79501
HP:0100006	Neoplasm of the central nervous system	79719	AAGAB	ORPHA:79501
HP:0100006	Neoplasm of the central nervous system	25978	CHMP2B	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	5663	PSEN1	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	2896	GRN	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	54664	TMEM106B	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	4137	MAPT	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	54209	TREM2	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	7415	VCP	ORPHA:100070
HP:0100006	Neoplasm of the central nervous system	65998	ZFTA	ORPHA:251636
HP:0100006	Neoplasm of the central nervous system	5970	RELA	ORPHA:251636
HP:0100006	Neoplasm of the central nervous system	10483	SEC23B	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	5728	PTEN	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	5728	PTEN	ORPHA:744
HP:0100006	Neoplasm of the central nervous system	6390	SDHB	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	6392	SDHD	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	6391	SDHC	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	205717	USF3	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	100144748	KLLN	ORPHA:201
HP:0100006	Neoplasm of the central nervous system	2048	EPHB2	OMIM:603688
HP:0100006	Neoplasm of the central nervous system	2130	EWSR1	ORPHA:83469
HP:0100006	Neoplasm of the central nervous system	7490	WT1	ORPHA:83469
HP:0100006	Neoplasm of the central nervous system	324	APC	ORPHA:99818
HP:0100006	Neoplasm of the central nervous system	161742	SPRED1	ORPHA:137605
HP:0100006	Neoplasm of the central nervous system	7157	TP53	ORPHA:524
HP:0100006	Neoplasm of the central nervous system	1029	CDKN2A	ORPHA:524
HP:0100006	Neoplasm of the central nervous system	4193	MDM2	ORPHA:524
HP:0100006	Neoplasm of the central nervous system	11200	CHEK2	ORPHA:524
HP:0100006	Neoplasm of the central nervous system	8314	BAP1	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	4771	NF2	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	4771	NF2	ORPHA:637
HP:0100006	Neoplasm of the central nervous system	6598	SMARCB1	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	5155	PDGFB	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	84231	TRAF7	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	6608	SMO	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	207	AKT1	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	5290	PIK3CA	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	7015	TERT	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	51684	SUFU	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	6605	SMARCE1	ORPHA:2495
HP:0100006	Neoplasm of the central nervous system	2260	FGFR1	OMIM:613001
HP:0100006	Neoplasm of the central nervous system	9508	ADAMTS3	ORPHA:2136
HP:0100006	Neoplasm of the central nervous system	147372	CCBE1	ORPHA:2136
HP:0100006	Neoplasm of the central nervous system	79633	FAT4	ORPHA:2136
HP:0100006	Neoplasm of the central nervous system	4854	NOTCH3	ORPHA:2591
HP:0100006	Neoplasm of the central nervous system	5159	PDGFRB	ORPHA:2591
HP:0100006	Neoplasm of the central nervous system	4952	OCRL	ORPHA:534
HP:0100006	Neoplasm of the central nervous system	51057	WDPCP	ORPHA:1338
HP:0100007	Neoplasm of the peripheral nervous system	3815	KIT	OMIM:606764
HP:0100007	Neoplasm of the peripheral nervous system	6711	SPTBN1	OMIM:619475
HP:0100007	Neoplasm of the peripheral nervous system	8314	BAP1	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	5155	PDGFB	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	84231	TRAF7	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	6608	SMO	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	207	AKT1	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	5290	PIK3CA	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	7015	TERT	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	51684	SUFU	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	6605	SMARCE1	ORPHA:2495
HP:0100007	Neoplasm of the peripheral nervous system	4035	LRP1	ORPHA:79100
HP:0100007	Neoplasm of the peripheral nervous system	8929	PHOX2B	OMIM:613013
HP:0100007	Neoplasm of the peripheral nervous system	8929	PHOX2B	ORPHA:661
HP:0100007	Neoplasm of the peripheral nervous system	8929	PHOX2B	ORPHA:99803
HP:0100007	Neoplasm of the peripheral nervous system	8929	PHOX2B	OMIM:209880
HP:0100007	Neoplasm of the peripheral nervous system	1908	EDN3	ORPHA:661
HP:0100007	Neoplasm of the peripheral nervous system	2668	GDNF	ORPHA:661
HP:0100007	Neoplasm of the peripheral nervous system	627	BDNF	ORPHA:661
HP:0100007	Neoplasm of the peripheral nervous system	283446	MYO1H	ORPHA:661
HP:0100007	Neoplasm of the peripheral nervous system	429	ASCL1	ORPHA:99803
HP:0100007	Neoplasm of the peripheral nervous system	324	APC	OMIM:175100
HP:0100007	Neoplasm of the peripheral nervous system	324	APC	ORPHA:79665
HP:0100007	Neoplasm of the peripheral nervous system	7428	VHL	ORPHA:892
HP:0100007	Neoplasm of the peripheral nervous system	7428	VHL	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	7428	VHL	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	595	CCND1	ORPHA:892
HP:0100007	Neoplasm of the peripheral nervous system	1743	DLST	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	4191	MDH2	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	5979	RET	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	5979	RET	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	6389	SDHA	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	23095	KIF1B	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	2271	FH	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	8402	SLC25A11	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	54949	SDHAF2	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	55654	TMEM127	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	4763	NF1	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	6391	SDHC	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	6391	SDHC	OMIM:605373
HP:0100007	Neoplasm of the peripheral nervous system	6392	SDHD	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	6392	SDHD	OMIM:168000
HP:0100007	Neoplasm of the peripheral nervous system	6392	SDHD	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	6390	SDHB	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	6390	SDHB	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	6390	SDHB	OMIM:115310
HP:0100007	Neoplasm of the peripheral nervous system	4149	MAX	ORPHA:29072
HP:0100007	Neoplasm of the peripheral nervous system	1788	DNMT3A	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	2034	EPAS1	ORPHA:276621
HP:0100007	Neoplasm of the peripheral nervous system	3767	KCNJ11	ORPHA:79644
HP:0100007	Neoplasm of the peripheral nervous system	3735	KARS1	OMIM:613641
HP:0100007	Neoplasm of the peripheral nervous system	161742	SPRED1	ORPHA:137605
HP:0100007	Neoplasm of the peripheral nervous system	3265	HRAS	OMIM:218040
HP:0100007	Neoplasm of the peripheral nervous system	4771	NF2	OMIM:162091
HP:0100007	Neoplasm of the peripheral nervous system	6598	SMARCB1	OMIM:162091
HP:0100007	Neoplasm of the peripheral nervous system	4292	MLH1	OMIM:276300
HP:0100007	Neoplasm of the peripheral nervous system	389692	MAFA	OMIM:147630
HP:0100007	Neoplasm of the peripheral nervous system	2642	GCGR	ORPHA:438274
HP:0100007	Neoplasm of the peripheral nervous system	11235	PDCD10	ORPHA:221061
HP:0100007	Neoplasm of the peripheral nervous system	83605	CCM2	ORPHA:221061
HP:0100007	Neoplasm of the peripheral nervous system	889	KRIT1	ORPHA:221061
HP:0100007	Neoplasm of the peripheral nervous system	4000	LMNA	ORPHA:363618
HP:0100007	Neoplasm of the peripheral nervous system	5573	PRKAR1A	OMIM:160980
HP:0100007	Neoplasm of the peripheral nervous system	5573	PRKAR1A	ORPHA:1359
HP:0100007	Neoplasm of the peripheral nervous system	8930	MBD4	OMIM:619975
HP:0100007	Neoplasm of the peripheral nervous system	54894	RNF43	ORPHA:157798
HP:0100007	Neoplasm of the peripheral nervous system	8216	LZTR1	OMIM:615670
HP:0100007	Neoplasm of the peripheral nervous system	50940	PDE11A	ORPHA:1359
HP:0100007	Neoplasm of the peripheral nervous system	4221	MEN1	ORPHA:652
HP:0100007	Neoplasm of the peripheral nervous system	4221	MEN1	OMIM:131100
HP:0100007	Neoplasm of the peripheral nervous system	1027	CDKN1B	ORPHA:652
HP:0100007	Neoplasm of the peripheral nervous system	1027	CDKN1B	OMIM:610755
HP:0100007	Neoplasm of the peripheral nervous system	1027	CDKN1B	ORPHA:276152
HP:0100007	Neoplasm of the peripheral nervous system	1026	CDKN1A	ORPHA:652
HP:0100007	Neoplasm of the peripheral nervous system	1030	CDKN2B	ORPHA:652
HP:0100007	Neoplasm of the peripheral nervous system	1031	CDKN2C	ORPHA:652
HP:0100007	Neoplasm of the peripheral nervous system	1616	DAXX	ORPHA:100075
HP:0100007	Neoplasm of the peripheral nervous system	546	ATRX	ORPHA:100075
HP:0100007	Neoplasm of the peripheral nervous system	3458	IFNG	ORPHA:805
HP:0100007	Neoplasm of the peripheral nervous system	7248	TSC1	ORPHA:805
HP:0100007	Neoplasm of the peripheral nervous system	7249	TSC2	ORPHA:805
HP:0100007	Neoplasm of the peripheral nervous system	79798	ARMC5	ORPHA:189427
HP:0100007	Neoplasm of the peripheral nervous system	2778	GNAS	ORPHA:189427
HP:0100007	Neoplasm of the peripheral nervous system	7528	YY1	ORPHA:97279
HP:0100008	Schwannoma	3735	KARS1	OMIM:613641
HP:0100008	Schwannoma	161742	SPRED1	ORPHA:137605
HP:0100008	Schwannoma	3265	HRAS	OMIM:218040
HP:0100008	Schwannoma	4771	NF2	OMIM:101000
HP:0100008	Schwannoma	6598	SMARCB1	OMIM:162091
HP:0100008	Schwannoma	5573	PRKAR1A	OMIM:160980
HP:0100008	Schwannoma	5573	PRKAR1A	ORPHA:1359
HP:0100008	Schwannoma	8930	MBD4	OMIM:619975
HP:0100008	Schwannoma	4763	NF1	ORPHA:363700
HP:0100008	Schwannoma	4763	NF1	ORPHA:97685
HP:0100008	Schwannoma	54894	RNF43	ORPHA:157798
HP:0100008	Schwannoma	8216	LZTR1	OMIM:615670
HP:0100008	Schwannoma	50940	PDE11A	ORPHA:1359
HP:0100009	Intracranial meningioma	8314	BAP1	ORPHA:2495
HP:0100009	Intracranial meningioma	4771	NF2	ORPHA:2495
HP:0100009	Intracranial meningioma	4771	NF2	ORPHA:637
HP:0100009	Intracranial meningioma	6598	SMARCB1	ORPHA:2495
HP:0100009	Intracranial meningioma	5155	PDGFB	ORPHA:2495
HP:0100009	Intracranial meningioma	84231	TRAF7	ORPHA:2495
HP:0100009	Intracranial meningioma	6608	SMO	ORPHA:2495
HP:0100009	Intracranial meningioma	207	AKT1	ORPHA:2495
HP:0100009	Intracranial meningioma	5290	PIK3CA	ORPHA:2495
HP:0100009	Intracranial meningioma	7015	TERT	ORPHA:2495
HP:0100009	Intracranial meningioma	51684	SUFU	ORPHA:2495
HP:0100009	Intracranial meningioma	6605	SMARCE1	ORPHA:2495
HP:0025492	Microcoria	2670	GFAP	OMIM:203450
HP:0025492	Microcoria	5950	RBP4	OMIM:616428
HP:0025492	Microcoria	3913	LAMB2	OMIM:609049
HP:0025492	Microcoria	4796	TONSL	ORPHA:93357
HP:0025493	Palmoplantar erythema	2702	GJA5	OMIM:612474
HP:0025493	Palmoplantar erythema	2703	GJA8	OMIM:612474
HP:0025493	Palmoplantar erythema	7286	TUFT1	OMIM:607655
HP:0025493	Palmoplantar erythema	80326	WNT10A	OMIM:257980
HP:0025493	Palmoplantar erythema	2697	GJA1	OMIM:104100
HP:0025496	Abnormal coronary artery physiology	7840	ALMS1	ORPHA:64
HP:0025498	Aceruloplasminemia	1356	CP	OMIM:604290
HP:0025498	Aceruloplasminemia	1356	CP	ORPHA:48818
HP:0005060	Limited elbow flexion/extension	51305	KCNK9	ORPHA:166108
HP:0005060	Limited elbow flexion/extension	2535	FZD2	OMIM:164745
HP:0005060	Limited elbow flexion/extension	10082	GPC6	OMIM:258315
HP:0005063	Fragmented, irregular epiphyses	1311	COMP	OMIM:177170
HP:0003100	Slender long bone	286053	NSMCE2	OMIM:617253
HP:0003100	Slender long bone	79879	CCDC134	OMIM:619795
HP:0003100	Slender long bone	4593	MUSK	OMIM:208150
HP:0003100	Slender long bone	51604	PIGT	ORPHA:369837
HP:0003100	Slender long bone	5530	PPP3CA	OMIM:618265
HP:0003100	Slender long bone	2972	BRF1	OMIM:616202
HP:0003100	Slender long bone	2972	BRF1	ORPHA:444072
HP:0003100	Slender long bone	2733	GLE1	ORPHA:1486
HP:0003100	Slender long bone	9820	CUL7	ORPHA:2616
HP:0003100	Slender long bone	9820	CUL7	OMIM:273750
HP:0003100	Slender long bone	23363	OBSL1	ORPHA:2616
HP:0003100	Slender long bone	23363	OBSL1	OMIM:612921
HP:0003100	Slender long bone	83987	CCDC8	ORPHA:2616
HP:0003100	Slender long bone	83987	CCDC8	OMIM:614205
HP:0003100	Slender long bone	4784	NFIX	ORPHA:420179
HP:0003100	Slender long bone	4784	NFIX	OMIM:602535
HP:0003100	Slender long bone	4784	NFIX	ORPHA:561
HP:0003100	Slender long bone	1277	COL1A1	OMIM:259420
HP:0003100	Slender long bone	1278	COL1A2	OMIM:259420
HP:0003100	Slender long bone	11128	POLR3A	OMIM:264090
HP:0003100	Slender long bone	9935	MAFB	ORPHA:2774
HP:0003100	Slender long bone	128869	PIGU	OMIM:618590
HP:0003100	Slender long bone	2222	FDFT1	OMIM:618156
HP:0003100	Slender long bone	91179	SCARF2	OMIM:600920
HP:0003100	Slender long bone	5159	PDGFRB	OMIM:601812
HP:0003100	Slender long bone	83737	ITCH	OMIM:613385
HP:0003100	Slender long bone	3035	HARS1	ORPHA:488333
HP:0003100	Slender long bone	2067	ERCC1	OMIM:610758
HP:0003100	Slender long bone	64175	P3H1	OMIM:610915
HP:0003100	Slender long bone	5295	PIK3R1	OMIM:269880
HP:0003100	Slender long bone	6905	TBCE	OMIM:244460
HP:0003100	Slender long bone	6651	SON	ORPHA:500150
HP:0003100	Slender long bone	4998	ORC1	OMIM:224690
HP:0003100	Slender long bone	4998	ORC1	ORPHA:2554
HP:0003100	Slender long bone	89970	RSPRY1	ORPHA:457395
HP:0003100	Slender long bone	51574	LARP7	ORPHA:319671
HP:0003100	Slender long bone	3759	KCNJ2	OMIM:170390
HP:0003100	Slender long bone	81620	CDT1	ORPHA:2554
HP:0003100	Slender long bone	81620	CDT1	OMIM:613804
HP:0003100	Slender long bone	5000	ORC4	ORPHA:2554
HP:0003100	Slender long bone	5000	ORC4	OMIM:613800
HP:0003100	Slender long bone	23594	ORC6	ORPHA:2554
HP:0003100	Slender long bone	23594	ORC6	OMIM:613803
HP:0003100	Slender long bone	8318	CDC45	ORPHA:2554
HP:0003100	Slender long bone	990	CDC6	ORPHA:2554
HP:0003100	Slender long bone	990	CDC6	OMIM:613805
HP:0003100	Slender long bone	51053	GMNN	ORPHA:2554
HP:0003100	Slender long bone	5116	PCNT	OMIM:210720
HP:0003100	Slender long bone	4247	MGAT2	OMIM:212066
HP:0003100	Slender long bone	63901	FAM111A	OMIM:602361
HP:0003100	Slender long bone	25782	RAB3GAP2	OMIM:212720
HP:0003100	Slender long bone	3187	HNRNPH1	OMIM:620083
HP:0003100	Slender long bone	23545	ATP6V0A2	ORPHA:2834
HP:0003100	Slender long bone	126792	B3GALT6	ORPHA:536467
HP:0003100	Slender long bone	9896	FIG4	ORPHA:3472
HP:0003100	Slender long bone	55697	VAC14	ORPHA:3472
HP:0100010	Spinal meningioma	8314	BAP1	ORPHA:2495
HP:0100010	Spinal meningioma	4771	NF2	ORPHA:2495
HP:0100010	Spinal meningioma	4771	NF2	ORPHA:637
HP:0100010	Spinal meningioma	6598	SMARCB1	ORPHA:2495
HP:0100010	Spinal meningioma	5155	PDGFB	ORPHA:2495
HP:0100010	Spinal meningioma	84231	TRAF7	ORPHA:2495
HP:0100010	Spinal meningioma	6608	SMO	ORPHA:2495
HP:0100010	Spinal meningioma	207	AKT1	ORPHA:2495
HP:0100010	Spinal meningioma	5290	PIK3CA	ORPHA:2495
HP:0100010	Spinal meningioma	7015	TERT	ORPHA:2495
HP:0100010	Spinal meningioma	51684	SUFU	ORPHA:2495
HP:0100010	Spinal meningioma	6605	SMARCE1	ORPHA:2495
HP:0100012	Neoplasm of the eye	8314	BAP1	OMIM:614327
HP:0100012	Neoplasm of the eye	8314	BAP1	OMIM:606661
HP:0100012	Neoplasm of the eye	8930	MBD4	OMIM:619975
HP:0100012	Neoplasm of the eye	8930	MBD4	OMIM:606660
HP:0100012	Neoplasm of the eye	6794	STK11	OMIM:155600
HP:0100012	Neoplasm of the eye	673	BRAF	OMIM:155600
HP:0100012	Neoplasm of the eye	4771	NF2	ORPHA:637
HP:0100012	Neoplasm of the eye	4771	NF2	OMIM:101000
HP:0100012	Neoplasm of the eye	7428	VHL	ORPHA:892
HP:0100012	Neoplasm of the eye	7428	VHL	ORPHA:29072
HP:0100012	Neoplasm of the eye	7428	VHL	OMIM:193300
HP:0100012	Neoplasm of the eye	595	CCND1	ORPHA:892
HP:0100012	Neoplasm of the eye	595	CCND1	OMIM:193300
HP:0100012	Neoplasm of the eye	1743	DLST	ORPHA:29072
HP:0100012	Neoplasm of the eye	4191	MDH2	ORPHA:29072
HP:0100012	Neoplasm of the eye	5979	RET	ORPHA:29072
HP:0100012	Neoplasm of the eye	6389	SDHA	ORPHA:29072
HP:0100012	Neoplasm of the eye	23095	KIF1B	ORPHA:29072
HP:0100012	Neoplasm of the eye	2271	FH	ORPHA:29072
HP:0100012	Neoplasm of the eye	8402	SLC25A11	ORPHA:29072
HP:0100012	Neoplasm of the eye	54949	SDHAF2	ORPHA:29072
HP:0100012	Neoplasm of the eye	55654	TMEM127	ORPHA:29072
HP:0100012	Neoplasm of the eye	4763	NF1	ORPHA:29072
HP:0100012	Neoplasm of the eye	4149	MAX	ORPHA:29072
HP:0100012	Neoplasm of the eye	2956	MSH6	OMIM:619097
HP:0100012	Neoplasm of the eye	161742	SPRED1	ORPHA:137605
HP:0100012	Neoplasm of the eye	5925	RB1	ORPHA:1587
HP:0100012	Neoplasm of the eye	5925	RB1	OMIM:180200
HP:0100012	Neoplasm of the eye	5925	RB1	OMIM:259500
HP:0100012	Neoplasm of the eye	7157	TP53	OMIM:259500
HP:0100012	Neoplasm of the eye	11200	CHEK2	OMIM:259500
HP:0100012	Neoplasm of the eye	57105	CYSLTR2	ORPHA:39044
HP:0100012	Neoplasm of the eye	2776	GNAQ	ORPHA:39044
HP:0100012	Neoplasm of the eye	2767	GNA11	ORPHA:39044
HP:0100012	Neoplasm of the eye	23451	SF3B1	ORPHA:39044
HP:0100012	Neoplasm of the eye	3458	IFNG	ORPHA:805
HP:0100012	Neoplasm of the eye	7248	TSC1	ORPHA:805
HP:0100012	Neoplasm of the eye	7249	TSC2	ORPHA:805
HP:0100012	Neoplasm of the eye	4693	NDP	ORPHA:649
HP:0100012	Neoplasm of the eye	2068	ERCC2	ORPHA:910
HP:0100012	Neoplasm of the eye	7507	XPA	ORPHA:910
HP:0100012	Neoplasm of the eye	2071	ERCC3	ORPHA:910
HP:0100012	Neoplasm of the eye	7508	XPC	ORPHA:910
HP:0100012	Neoplasm of the eye	1643	DDB2	ORPHA:910
HP:0100012	Neoplasm of the eye	2072	ERCC4	ORPHA:910
HP:0100012	Neoplasm of the eye	2073	ERCC5	ORPHA:910
HP:0100012	Neoplasm of the eye	3858	KRT10	ORPHA:312
HP:0100012	Neoplasm of the eye	3848	KRT1	ORPHA:312
HP:0100012	Neoplasm of the eye	10483	SEC23B	ORPHA:201
HP:0100012	Neoplasm of the eye	5728	PTEN	ORPHA:201
HP:0100012	Neoplasm of the eye	6390	SDHB	ORPHA:201
HP:0100012	Neoplasm of the eye	6392	SDHD	ORPHA:201
HP:0100012	Neoplasm of the eye	6391	SDHC	ORPHA:201
HP:0100012	Neoplasm of the eye	207	AKT1	ORPHA:201
HP:0100012	Neoplasm of the eye	205717	USF3	ORPHA:201
HP:0100012	Neoplasm of the eye	5290	PIK3CA	ORPHA:201
HP:0100012	Neoplasm of the eye	100144748	KLLN	ORPHA:201
HP:0100013	Neoplasm of the breast	4292	MLH1	OMIM:158320
HP:0100013	Neoplasm of the breast	4292	MLH1	ORPHA:587
HP:0100013	Neoplasm of the breast	4436	MSH2	OMIM:158320
HP:0100013	Neoplasm of the breast	4436	MSH2	ORPHA:587
HP:0100013	Neoplasm of the breast	8313	AXIN2	OMIM:608615
HP:0100013	Neoplasm of the breast	54894	RNF43	ORPHA:157798
HP:0100013	Neoplasm of the breast	388662	SLC6A17	ORPHA:457212
HP:0100013	Neoplasm of the breast	4913	NTHL1	ORPHA:454840
HP:0100013	Neoplasm of the breast	4913	NTHL1	OMIM:616415
HP:0100013	Neoplasm of the breast	7157	TP53	OMIM:151623
HP:0100013	Neoplasm of the breast	7157	TP53	OMIM:114480
HP:0100013	Neoplasm of the breast	7157	TP53	ORPHA:524
HP:0100013	Neoplasm of the breast	7157	TP53	ORPHA:145
HP:0100013	Neoplasm of the breast	7157	TP53	ORPHA:1333
HP:0100013	Neoplasm of the breast	5889	RAD51C	OMIM:613399
HP:0100013	Neoplasm of the breast	5889	RAD51C	ORPHA:145
HP:0100013	Neoplasm of the breast	545	ATR	OMIM:614564
HP:0100013	Neoplasm of the breast	999	CDH1	OMIM:167000
HP:0100013	Neoplasm of the breast	999	CDH1	OMIM:114480
HP:0100013	Neoplasm of the breast	5071	PRKN	OMIM:167000
HP:0100013	Neoplasm of the breast	4978	OPCML	OMIM:167000
HP:0100013	Neoplasm of the breast	207	AKT1	OMIM:167000
HP:0100013	Neoplasm of the breast	207	AKT1	OMIM:114480
HP:0100013	Neoplasm of the breast	207	AKT1	ORPHA:201
HP:0100013	Neoplasm of the breast	207	AKT1	OMIM:615109
HP:0100013	Neoplasm of the breast	2064	ERBB2	OMIM:167000
HP:0100013	Neoplasm of the breast	5290	PIK3CA	OMIM:167000
HP:0100013	Neoplasm of the breast	5290	PIK3CA	OMIM:114480
HP:0100013	Neoplasm of the breast	5290	PIK3CA	ORPHA:201
HP:0100013	Neoplasm of the breast	5290	PIK3CA	OMIM:615108
HP:0100013	Neoplasm of the breast	1499	CTNNB1	OMIM:167000
HP:0100013	Neoplasm of the breast	6794	STK11	OMIM:175200
HP:0100013	Neoplasm of the breast	6794	STK11	ORPHA:2869
HP:0100013	Neoplasm of the breast	83990	BRIP1	OMIM:114480
HP:0100013	Neoplasm of the breast	83990	BRIP1	ORPHA:145
HP:0100013	Neoplasm of the breast	3845	KRAS	OMIM:114480
HP:0100013	Neoplasm of the breast	3845	KRAS	ORPHA:1333
HP:0100013	Neoplasm of the breast	5002	SLC22A18	OMIM:114480
HP:0100013	Neoplasm of the breast	4835	NQO2	OMIM:114480
HP:0100013	Neoplasm of the breast	5245	PHB1	OMIM:114480
HP:0100013	Neoplasm of the breast	11200	CHEK2	OMIM:114480
HP:0100013	Neoplasm of the breast	11200	CHEK2	ORPHA:524
HP:0100013	Neoplasm of the breast	11200	CHEK2	OMIM:609265
HP:0100013	Neoplasm of the breast	11200	CHEK2	ORPHA:145
HP:0100013	Neoplasm of the breast	3161	HMMR	OMIM:114480
HP:0100013	Neoplasm of the breast	580	BARD1	OMIM:114480
HP:0100013	Neoplasm of the breast	580	BARD1	ORPHA:145
HP:0100013	Neoplasm of the breast	672	BRCA1	OMIM:114480
HP:0100013	Neoplasm of the breast	672	BRCA1	OMIM:604370
HP:0100013	Neoplasm of the breast	672	BRCA1	ORPHA:145
HP:0100013	Neoplasm of the breast	672	BRCA1	OMIM:617883
HP:0100013	Neoplasm of the breast	672	BRCA1	ORPHA:1333
HP:0100013	Neoplasm of the breast	675	BRCA2	OMIM:114480
HP:0100013	Neoplasm of the breast	675	BRCA2	ORPHA:145
HP:0100013	Neoplasm of the breast	675	BRCA2	ORPHA:1333
HP:0100013	Neoplasm of the breast	675	BRCA2	OMIM:612555
HP:0100013	Neoplasm of the breast	472	ATM	OMIM:114480
HP:0100013	Neoplasm of the breast	8493	PPM1D	OMIM:114480
HP:0100013	Neoplasm of the breast	79728	PALB2	OMIM:114480
HP:0100013	Neoplasm of the breast	79728	PALB2	ORPHA:145
HP:0100013	Neoplasm of the breast	79728	PALB2	ORPHA:1333
HP:0100013	Neoplasm of the breast	5888	RAD51	OMIM:114480
HP:0100013	Neoplasm of the breast	5888	RAD51	ORPHA:145
HP:0100013	Neoplasm of the breast	7517	XRCC3	OMIM:114480
HP:0100013	Neoplasm of the breast	9821	RB1CC1	OMIM:114480
HP:0100013	Neoplasm of the breast	2099	ESR1	OMIM:114480
HP:0100013	Neoplasm of the breast	841	CASP8	OMIM:114480
HP:0100013	Neoplasm of the breast	8438	RAD54L	OMIM:114480
HP:0100013	Neoplasm of the breast	324	APC	ORPHA:247806
HP:0100013	Neoplasm of the breast	324	APC	ORPHA:79665
HP:0100013	Neoplasm of the breast	324	APC	OMIM:135290
HP:0100013	Neoplasm of the breast	4210	MEFV	ORPHA:3243
HP:0100013	Neoplasm of the breast	5426	POLE	ORPHA:447877
HP:0100013	Neoplasm of the breast	5424	POLD1	ORPHA:447877
HP:0100013	Neoplasm of the breast	7486	WRN	ORPHA:902
HP:0100013	Neoplasm of the breast	7373	COL14A1	ORPHA:79501
HP:0100013	Neoplasm of the breast	79719	AAGAB	ORPHA:79501
HP:0100013	Neoplasm of the breast	1029	CDKN2A	ORPHA:524
HP:0100013	Neoplasm of the breast	1029	CDKN2A	ORPHA:1333
HP:0100013	Neoplasm of the breast	4193	MDM2	ORPHA:524
HP:0100013	Neoplasm of the breast	5892	RAD51D	ORPHA:145
HP:0100013	Neoplasm of the breast	5728	PTEN	ORPHA:145
HP:0100013	Neoplasm of the breast	5728	PTEN	ORPHA:201
HP:0100013	Neoplasm of the breast	5728	PTEN	OMIM:158350
HP:0100013	Neoplasm of the breast	10111	RAD50	ORPHA:145
HP:0100013	Neoplasm of the breast	4683	NBN	ORPHA:145
HP:0100013	Neoplasm of the breast	4361	MRE11	ORPHA:145
HP:0100013	Neoplasm of the breast	2778	GNAS	ORPHA:562
HP:0100013	Neoplasm of the breast	2956	MSH6	ORPHA:587
HP:0100013	Neoplasm of the breast	10483	SEC23B	ORPHA:201
HP:0100013	Neoplasm of the breast	10483	SEC23B	OMIM:616858
HP:0100013	Neoplasm of the breast	6390	SDHB	ORPHA:201
HP:0100013	Neoplasm of the breast	6392	SDHD	ORPHA:201
HP:0100013	Neoplasm of the breast	6391	SDHC	ORPHA:201
HP:0100013	Neoplasm of the breast	205717	USF3	ORPHA:201
HP:0100013	Neoplasm of the breast	100144748	KLLN	ORPHA:201
HP:0100013	Neoplasm of the breast	100144748	KLLN	OMIM:615107
HP:0100013	Neoplasm of the breast	285282	RABL3	ORPHA:1333
HP:0100013	Neoplasm of the breast	4089	SMAD4	ORPHA:1333
HP:0100013	Neoplasm of the breast	23022	PALLD	ORPHA:1333
HP:0100013	Neoplasm of the breast	7291	TWIST1	OMIM:101400
HP:0100013	Neoplasm of the breast	2263	FGFR2	OMIM:101400
HP:0100013	Neoplasm of the breast	3418	IDH2	ORPHA:163634
HP:0100013	Neoplasm of the breast	3417	IDH1	ORPHA:163634
HP:0100013	Neoplasm of the breast	4763	NF1	ORPHA:97685
HP:0100013	Neoplasm of the breast	5618	PRLR	OMIM:615554
HP:0100013	Neoplasm of the breast	5566	PRKACA	ORPHA:189439
HP:0100013	Neoplasm of the breast	8622	PDE8B	ORPHA:189439
HP:0100013	Neoplasm of the breast	5573	PRKAR1A	ORPHA:189439
HP:0100013	Neoplasm of the breast	5573	PRKAR1A	ORPHA:1359
HP:0100013	Neoplasm of the breast	50940	PDE11A	ORPHA:189439
HP:0100013	Neoplasm of the breast	50940	PDE11A	ORPHA:1359
HP:0100013	Neoplasm of the breast	355	FAS	ORPHA:3261
HP:0100013	Neoplasm of the breast	356	FASLG	ORPHA:3261
HP:0100013	Neoplasm of the breast	5580	PRKCD	ORPHA:3261
HP:0100013	Neoplasm of the breast	843	CASP10	ORPHA:3261
HP:0100013	Neoplasm of the breast	10125	RASGRP1	ORPHA:3261
HP:0100013	Neoplasm of the breast	8930	MBD4	OMIM:619975
HP:0100013	Neoplasm of the breast	641	BLM	ORPHA:125
HP:0100013	Neoplasm of the breast	64218	SEMA4A	ORPHA:440437
HP:0100013	Neoplasm of the breast	657	BMPR1A	ORPHA:440437
HP:0100013	Neoplasm of the breast	6224	RPS20	ORPHA:440437
HP:0100013	Neoplasm of the breast	65998	ZFTA	ORPHA:251636
HP:0100013	Neoplasm of the breast	5970	RELA	ORPHA:251636
HP:0100013	Neoplasm of the breast	8314	BAP1	ORPHA:618
HP:0100013	Neoplasm of the breast	4286	MITF	ORPHA:618
HP:0100013	Neoplasm of the breast	1019	CDK4	ORPHA:618
HP:0100013	Neoplasm of the breast	4255	MGMT	ORPHA:618
HP:0100013	Neoplasm of the breast	54386	TERF2IP	ORPHA:618
HP:0100013	Neoplasm of the breast	4157	MC1R	ORPHA:618
HP:0100013	Neoplasm of the breast	65057	ACD	ORPHA:618
HP:0100013	Neoplasm of the breast	7015	TERT	ORPHA:618
HP:0100013	Neoplasm of the breast	25913	POT1	ORPHA:618
HP:0100013	Neoplasm of the breast	1030	CDKN2B	ORPHA:618
HP:0100013	Neoplasm of the breast	4000	LMNA	ORPHA:79474
HP:0100014	Epiretinal membrane	3105	HLA-A	ORPHA:179
HP:0100014	Epiretinal membrane	4693	NDP	ORPHA:891
HP:0100014	Epiretinal membrane	1499	CTNNB1	ORPHA:891
HP:0100014	Epiretinal membrane	23554	TSPAN12	ORPHA:891
HP:0100014	Epiretinal membrane	4041	LRP5	ORPHA:891
HP:0100014	Epiretinal membrane	79797	ZNF408	ORPHA:891
HP:0100014	Epiretinal membrane	8322	FZD4	ORPHA:891
HP:0100014	Epiretinal membrane	114902	C1QTNF5	ORPHA:67042
HP:0100014	Epiretinal membrane	138050	HGSNAT	OMIM:616544
HP:0100014	Epiretinal membrane	114548	NLRP3	OMIM:148200
HP:0100014	Epiretinal membrane	324	APC	ORPHA:99818
HP:0100014	Epiretinal membrane	4771	NF2	ORPHA:637
HP:0100014	Epiretinal membrane	4771	NF2	OMIM:101000
HP:0100014	Epiretinal membrane	51095	TRNT1	OMIM:616959
HP:0100015	Stahl ear	6299	SALL1	OMIM:107480
HP:0100015	Stahl ear	6567	SLC16A2	OMIM:300523
HP:0100016	Abnormality of mesentery morphology	9772	TMEM94	OMIM:618316
HP:0100016	Abnormality of mesentery morphology	113189	CHST14	ORPHA:2953
HP:0100016	Abnormality of mesentery morphology	29940	DSE	ORPHA:2953
HP:0100016	Abnormality of mesentery morphology	493856	CISD2	ORPHA:3463
HP:0100016	Abnormality of mesentery morphology	7466	WFS1	ORPHA:3463
HP:0100017	Capsular cataract	2583	B4GALNT1	OMIM:609195
HP:0100017	Capsular cataract	1410	CRYAB	ORPHA:399058
HP:0100018	Nuclear cataract	7431	VIM	OMIM:116300
HP:0100018	Nuclear cataract	2702	GJA5	OMIM:612474
HP:0100018	Nuclear cataract	1415	CRYBB2	OMIM:601547
HP:0100018	Nuclear cataract	1420	CRYGC	OMIM:604307
HP:0100018	Nuclear cataract	3299	HSF4	OMIM:116800
HP:0100018	Nuclear cataract	2703	GJA8	OMIM:116200
HP:0100018	Nuclear cataract	631	BFSP1	OMIM:611391
HP:0100018	Nuclear cataract	4284	MIP	OMIM:615274
HP:0100018	Nuclear cataract	7466	WFS1	OMIM:116400
HP:0100018	Nuclear cataract	10002	NR2E3	OMIM:611131
HP:0100018	Nuclear cataract	79797	ZNF408	OMIM:616468
HP:0100018	Nuclear cataract	1417	CRYBB3	OMIM:609741
HP:0100018	Nuclear cataract	128866	CHMP4B	OMIM:605387
HP:0100018	Nuclear cataract	4810	NHS	OMIM:302200
HP:0100018	Nuclear cataract	1411	CRYBA1	OMIM:600881
HP:0100018	Nuclear cataract	2512	FTL	OMIM:600886
HP:0100018	Nuclear cataract	50939	IMPG2	OMIM:613581
HP:0100018	Nuclear cataract	755	CFAP410	OMIM:617547
HP:0100018	Nuclear cataract	10216	PRG4	ORPHA:2848
HP:0100018	Nuclear cataract	4598	MVK	OMIM:610377
HP:0100018	Nuclear cataract	2697	GJA1	ORPHA:1010
HP:0100018	Nuclear cataract	1414	CRYBB1	OMIM:611544
HP:0100018	Nuclear cataract	6513	SLC2A1	OMIM:608885
HP:0100018	Nuclear cataract	79443	FYCO1	OMIM:610019
HP:0100018	Nuclear cataract	2584	GALK1	ORPHA:79237
HP:0100019	Cortical cataract	5062	PAK2	OMIM:618458
HP:0100019	Cortical cataract	4952	OCRL	OMIM:309000
HP:0100019	Cortical cataract	80207	OPA3	ORPHA:67036
HP:0100019	Cortical cataract	55229	PANK4	OMIM:619593
HP:0100019	Cortical cataract	80781	COL18A1	OMIM:267750
HP:0100019	Cortical cataract	79797	ZNF408	OMIM:616468
HP:0100019	Cortical cataract	57670	KIAA1549	OMIM:618613
HP:0100019	Cortical cataract	4771	NF2	ORPHA:637
HP:0100019	Cortical cataract	4771	NF2	OMIM:101000
HP:0100019	Cortical cataract	1427	CRYGS	OMIM:116100
HP:0100019	Cortical cataract	631	BFSP1	OMIM:611391
HP:0100019	Cortical cataract	4284	MIP	OMIM:615274
HP:0005068	Absent styloid process of ulna	1280	COL2A1	OMIM:271700
HP:0005067	Proximal fibular overgrowth	124583	CANT1	OMIM:251450
HP:0005066	Cone-shaped epiphyses fused within their metaphyses	633	BGN	OMIM:300106
HP:0005072	Hyperextensibility at wrists	29920	PYCR2	ORPHA:481152
HP:0005072	Hyperextensibility at wrists	11342	RNF13	ORPHA:544503
HP:0005072	Hyperextensibility at wrists	1291	COL6A1	OMIM:254090
HP:0005072	Hyperextensibility at wrists	1291	COL6A1	ORPHA:75840
HP:0005072	Hyperextensibility at wrists	1292	COL6A2	OMIM:254090
HP:0005072	Hyperextensibility at wrists	1292	COL6A2	ORPHA:75840
HP:0005072	Hyperextensibility at wrists	1293	COL6A3	OMIM:254090
HP:0005072	Hyperextensibility at wrists	1293	COL6A3	ORPHA:75840
HP:0005072	Hyperextensibility at wrists	3373	HYAL1	OMIM:601492
HP:0005072	Hyperextensibility at wrists	1303	COL12A1	ORPHA:75840
HP:0001377	Limited elbow extension	1311	COMP	ORPHA:750
HP:0001377	Limited elbow extension	1311	COMP	OMIM:177170
HP:0001377	Limited elbow extension	1280	COL2A1	OMIM:271700
HP:0001377	Limited elbow extension	1280	COL2A1	ORPHA:1856
HP:0001377	Limited elbow extension	4322	MMP13	OMIM:602111
HP:0001377	Limited elbow extension	4882	NPR2	OMIM:602875
HP:0001377	Limited elbow extension	10262	SF3B4	OMIM:154400
HP:0001377	Limited elbow extension	6424	SFRP4	OMIM:265900
HP:0001377	Limited elbow extension	85301	COL27A1	OMIM:615155
HP:0001377	Limited elbow extension	80207	OPA3	ORPHA:67036
HP:0001377	Limited elbow extension	23233	EXOC6B	ORPHA:93359
HP:0001377	Limited elbow extension	126792	B3GALT6	ORPHA:93359
HP:0001377	Limited elbow extension	4010	LMX1B	ORPHA:2614
HP:0001377	Limited elbow extension	4010	LMX1B	OMIM:161200
HP:0001377	Limited elbow extension	6023	RMRP	OMIM:250250
HP:0001377	Limited elbow extension	6023	RMRP	ORPHA:175
HP:0001377	Limited elbow extension	6023	RMRP	OMIM:607095
HP:0001377	Limited elbow extension	89970	RSPRY1	OMIM:616723
HP:0001377	Limited elbow extension	89970	RSPRY1	ORPHA:457395
HP:0001377	Limited elbow extension	10274	STAG1	ORPHA:502434
HP:0001377	Limited elbow extension	538	ATP7A	OMIM:304150
HP:0001377	Limited elbow extension	4796	TONSL	ORPHA:93357
HP:0001377	Limited elbow extension	4796	TONSL	OMIM:271510
HP:0001377	Limited elbow extension	10060	ABCC9	OMIM:619719
HP:0001377	Limited elbow extension	5447	POR	ORPHA:95699
HP:0001377	Limited elbow extension	4148	MATN3	OMIM:608728
HP:0001377	Limited elbow extension	4148	MATN3	ORPHA:156728
HP:0001377	Limited elbow extension	55869	HDAC8	OMIM:300882
HP:0001377	Limited elbow extension	100151683	RNU4ATAC	OMIM:226960
HP:0001377	Limited elbow extension	5594	MAPK1	OMIM:619087
HP:0001377	Limited elbow extension	54928	BPNT2	OMIM:614078
HP:0001377	Limited elbow extension	83737	ITCH	OMIM:613385
HP:0001377	Limited elbow extension	55790	CSGALNACT1	OMIM:618870
HP:0001377	Limited elbow extension	1299	COL9A3	OMIM:600969
HP:0001377	Limited elbow extension	2782	GNB1	OMIM:616973
HP:0001377	Limited elbow extension	2263	FGFR2	OMIM:123790
HP:0001377	Limited elbow extension	2201	FBN2	OMIM:121050
HP:0001377	Limited elbow extension	23529	CLCF1	OMIM:610313
HP:0001377	Limited elbow extension	7030	TFE3	OMIM:301066
HP:0001377	Limited elbow extension	2200	FBN1	OMIM:154700
HP:0001377	Limited elbow extension	10082	GPC6	OMIM:258315
HP:0001377	Limited elbow extension	2261	FGFR3	OMIM:146000
HP:0001377	Limited elbow extension	2261	FGFR3	OMIM:100800
HP:0001377	Limited elbow extension	2261	FGFR3	ORPHA:15
HP:0001377	Limited elbow extension	25836	NIPBL	OMIM:122470
HP:0001377	Limited elbow extension	2146	EZH2	OMIM:277590
HP:0001377	Limited elbow extension	2317	FLNB	OMIM:272460
HP:0001377	Limited elbow extension	6910	TBX5	OMIM:142900
HP:0001377	Limited elbow extension	633	BGN	OMIM:300106
HP:0001377	Limited elbow extension	83452	RAB33B	OMIM:615222
HP:0001377	Limited elbow extension	6999	TDO2	OMIM:600627
HP:0001377	Limited elbow extension	2316	FLNA	OMIM:309350
HP:0001377	Limited elbow extension	2316	FLNA	OMIM:311300
HP:0001377	Limited elbow extension	55012	PPP2R3C	OMIM:618419
HP:0001377	Limited elbow extension	200734	SPRED2	OMIM:619745
HP:0001377	Limited elbow extension	3930	LBR	OMIM:618019
HP:0001377	Limited elbow extension	5116	PCNT	OMIM:210720
HP:0001377	Limited elbow extension	9244	CRLF1	OMIM:272430
HP:0001377	Limited elbow extension	157570	ESCO2	OMIM:216100
HP:0001377	Limited elbow extension	54808	DYM	ORPHA:239
HP:0001377	Limited elbow extension	51305	KCNK9	ORPHA:166108
HP:0001377	Limited elbow extension	2535	FZD2	OMIM:164745
HP:0001377	Limited elbow extension	9968	MED12	ORPHA:93932
HP:0001377	Limited elbow extension	7474	WNT5A	OMIM:180700
HP:0001377	Limited elbow extension	1855	DVL1	OMIM:180700
HP:0003016	Metaphyseal widening	23169	SLC35D1	OMIM:269250
HP:0003016	Metaphyseal widening	23169	SLC35D1	ORPHA:3144
HP:0003016	Metaphyseal widening	3636	INPPL1	ORPHA:3144
HP:0003016	Metaphyseal widening	2146	EZH2	OMIM:277590
HP:0003016	Metaphyseal widening	1311	COMP	ORPHA:750
HP:0003016	Metaphyseal widening	2261	FGFR3	OMIM:187601
HP:0003016	Metaphyseal widening	2261	FGFR3	OMIM:187600
HP:0003016	Metaphyseal widening	2261	FGFR3	OMIM:146000
HP:0003016	Metaphyseal widening	2261	FGFR3	OMIM:100800
HP:0003016	Metaphyseal widening	1576	CYP3A4	OMIM:619073
HP:0003016	Metaphyseal widening	4921	DDR2	OMIM:271665
HP:0003016	Metaphyseal widening	4322	MMP13	OMIM:602111
HP:0003016	Metaphyseal widening	4322	MMP13	ORPHA:93356
HP:0003016	Metaphyseal widening	9791	PTDSS1	OMIM:151050
HP:0003016	Metaphyseal widening	59341	TRPV4	OMIM:184252
HP:0003016	Metaphyseal widening	59341	TRPV4	OMIM:156530
HP:0003016	Metaphyseal widening	65992	DDRGK1	OMIM:602557
HP:0003016	Metaphyseal widening	65992	DDRGK1	ORPHA:93352
HP:0003016	Metaphyseal widening	11285	B4GALT7	OMIM:130070
HP:0003016	Metaphyseal widening	4882	NPR2	OMIM:602875
HP:0003016	Metaphyseal widening	55699	IARS2	OMIM:616007
HP:0003016	Metaphyseal widening	10312	TCIRG1	OMIM:259700
HP:0003016	Metaphyseal widening	23233	EXOC6B	ORPHA:93359
HP:0003016	Metaphyseal widening	126792	B3GALT6	ORPHA:93359
HP:0003016	Metaphyseal widening	126792	B3GALT6	OMIM:271640
HP:0003016	Metaphyseal widening	126792	B3GALT6	OMIM:615349
HP:0003016	Metaphyseal widening	6885	MAP3K7	OMIM:617137
HP:0003016	Metaphyseal widening	5593	PRKG2	OMIM:619636
HP:0003016	Metaphyseal widening	4796	TONSL	ORPHA:93357
HP:0003016	Metaphyseal widening	5745	PTH1R	OMIM:215045
HP:0003016	Metaphyseal widening	5745	PTH1R	ORPHA:50945
HP:0003016	Metaphyseal widening	145258	GSC	OMIM:602471
HP:0003016	Metaphyseal widening	79796	ALG9	ORPHA:79328
HP:0003016	Metaphyseal widening	1302	COL11A2	OMIM:215150
HP:0003016	Metaphyseal widening	25839	COG4	OMIM:618150
HP:0003016	Metaphyseal widening	285590	SH3PXD2B	OMIM:249420
HP:0003016	Metaphyseal widening	5130	PCYT1A	ORPHA:85167
HP:0003016	Metaphyseal widening	202018	TAPT1	OMIM:616897
HP:0003016	Metaphyseal widening	1280	COL2A1	ORPHA:93346
HP:0003016	Metaphyseal widening	1280	COL2A1	OMIM:156550
HP:0003016	Metaphyseal widening	2067	ERCC1	OMIM:610758
HP:0003016	Metaphyseal widening	3930	LBR	OMIM:215140
HP:0003016	Metaphyseal widening	3930	LBR	OMIM:618019
HP:0003016	Metaphyseal widening	1300	COL10A1	ORPHA:174
HP:0003016	Metaphyseal widening	3835	KIF22	OMIM:603546
HP:0003016	Metaphyseal widening	56172	ANKH	OMIM:123000
HP:0003016	Metaphyseal widening	54187	NANS	OMIM:610442
HP:0003016	Metaphyseal widening	5191	PEX7	OMIM:215100
HP:0003016	Metaphyseal widening	64131	XYLT1	ORPHA:370930
HP:0003016	Metaphyseal widening	28962	OSTM1	OMIM:259720
HP:0003016	Metaphyseal widening	2697	GJA1	OMIM:218400
HP:0003016	Metaphyseal widening	9469	CHST3	OMIM:245600
HP:0003016	Metaphyseal widening	26229	B3GAT3	OMIM:245600
HP:0003016	Metaphyseal widening	9896	FIG4	ORPHA:3472
HP:0003016	Metaphyseal widening	55697	VAC14	ORPHA:3472
HP:0003016	Metaphyseal widening	8726	EED	OMIM:617561
HP:0003016	Metaphyseal widening	860	RUNX2	OMIM:156510
HP:0003016	Metaphyseal widening	3977	LIFR	OMIM:601559
HP:0003016	Metaphyseal widening	91252	SLC39A13	OMIM:612350
HP:0003016	Metaphyseal widening	2316	FLNA	OMIM:309350
HP:0003016	Metaphyseal widening	6023	RMRP	OMIM:607095
HP:0003016	Metaphyseal widening	5116	PCNT	OMIM:210720
HP:0003016	Metaphyseal widening	63901	FAM111A	OMIM:602361
HP:0003016	Metaphyseal widening	1497	CTNS	OMIM:219800
HP:0003016	Metaphyseal widening	5307	PITX1	OMIM:186550
HP:0003016	Metaphyseal widening	79659	DYNC2H1	OMIM:613091
HP:0003016	Metaphyseal widening	9131	AIFM1	OMIM:300232
HP:0003016	Metaphyseal widening	286053	NSMCE2	OMIM:617253
HP:0003016	Metaphyseal widening	6424	SFRP4	OMIM:265900
HP:0003016	Metaphyseal widening	8838	CCN6	OMIM:208230
HP:0003016	Metaphyseal widening	2588	GALNS	OMIM:253000
HP:0003016	Metaphyseal widening	538	ATP7A	OMIM:309400
HP:0003016	Metaphyseal widening	411	ARSB	OMIM:253200
HP:0003016	Metaphyseal widening	10060	ABCC9	OMIM:239850
HP:0003016	Metaphyseal widening	4148	MATN3	OMIM:608728
HP:0003016	Metaphyseal widening	1436	CSF1R	OMIM:618476
HP:0003016	Metaphyseal widening	9321	TRIP11	OMIM:184260
HP:0003016	Metaphyseal widening	51119	SBDS	OMIM:260400
HP:0003016	Metaphyseal widening	51119	SBDS	ORPHA:811
HP:0003016	Metaphyseal widening	134218	DNAJC21	OMIM:260400
HP:0003016	Metaphyseal widening	134218	DNAJC21	ORPHA:811
HP:0003016	Metaphyseal widening	6729	SRP54	OMIM:260400
HP:0003016	Metaphyseal widening	6729	SRP54	ORPHA:811
HP:0003016	Metaphyseal widening	1836	SLC26A2	ORPHA:93307
HP:0003016	Metaphyseal widening	79631	EFL1	OMIM:617941
HP:0003016	Metaphyseal widening	79631	EFL1	ORPHA:811
HP:0003016	Metaphyseal widening	65082	VPS33A	OMIM:617303
HP:0003016	Metaphyseal widening	4041	LRP5	OMIM:259770
HP:0003016	Metaphyseal widening	4041	LRP5	ORPHA:2788
HP:0003016	Metaphyseal widening	79158	GNPTAB	OMIM:252500
HP:0003016	Metaphyseal widening	176	ACAN	OMIM:612813
HP:0003016	Metaphyseal widening	124583	CANT1	OMIM:251450
HP:0003016	Metaphyseal widening	1301	COL11A1	ORPHA:440354
HP:0003016	Metaphyseal widening	3417	IDH1	ORPHA:99646
HP:0003016	Metaphyseal widening	3187	HNRNPH1	OMIM:620083
HP:0003016	Metaphyseal widening	54808	DYM	OMIM:223800
HP:0003016	Metaphyseal widening	90	ACVR1	OMIM:135100
HP:0003016	Metaphyseal widening	6497	SKI	OMIM:182212
HP:0003016	Metaphyseal widening	54	ACP5	OMIM:607944
HP:0003016	Metaphyseal widening	5331	PLCB3	OMIM:618961
HP:0003016	Metaphyseal widening	4318	MMP9	OMIM:613073
HP:0003016	Metaphyseal widening	3339	HSPG2	OMIM:255800
HP:0003016	Metaphyseal widening	4313	MMP2	OMIM:259600
HP:0003016	Metaphyseal widening	2131	EXT1	ORPHA:321
HP:0003016	Metaphyseal widening	2132	EXT2	ORPHA:321
HP:0003016	Metaphyseal widening	372	ARCN1	OMIM:617164
HP:0003016	Metaphyseal widening	2720	GLB1	OMIM:253010
HP:0003016	Metaphyseal widening	57728	WDR19	OMIM:614376
HP:0003016	Metaphyseal widening	3425	IDUA	OMIM:607014
HP:0003016	Metaphyseal widening	5251	PHEX	ORPHA:89936
HP:0003016	Metaphyseal widening	658	BMPR1B	OMIM:609441
HP:0003016	Metaphyseal widening	25885	POLR1A	OMIM:616462
HP:0100020	Posterior capsular cataract	2583	B4GALNT1	OMIM:609195
HP:0100020	Posterior capsular cataract	1410	CRYAB	ORPHA:399058
HP:0100021	Cerebral palsy	23141	ANKLE2	OMIM:616681
HP:0100021	Cerebral palsy	8367	H4C5	OMIM:619950
HP:0100021	Cerebral palsy	776	CACNA1D	OMIM:615474
HP:0100021	Cerebral palsy	2720	GLB1	OMIM:230600
HP:0100021	Cerebral palsy	84942	WDR73	OMIM:251300
HP:0100021	Cerebral palsy	6328	SCN3A	OMIM:617938
HP:0100021	Cerebral palsy	8496	PPFIBP1	OMIM:620024
HP:0100021	Cerebral palsy	56945	MRPS22	OMIM:611719
HP:0100021	Cerebral palsy	1193	CLIC2	OMIM:300886
HP:0100021	Cerebral palsy	1193	CLIC2	ORPHA:324410
HP:0100021	Cerebral palsy	6567	SLC16A2	OMIM:300523
HP:0100021	Cerebral palsy	6567	SLC16A2	ORPHA:59
HP:0100021	Cerebral palsy	1436	CSF1R	OMIM:618476
HP:0100021	Cerebral palsy	170302	ARX	OMIM:300004
HP:0100021	Cerebral palsy	8867	SYNJ1	OMIM:617389
HP:0100021	Cerebral palsy	644096	SDHAF1	OMIM:619166
HP:0100021	Cerebral palsy	80347	COASY	OMIM:615643
HP:0100021	Cerebral palsy	1841	DTYMK	OMIM:619847
HP:0100021	Cerebral palsy	29078	NDUFAF4	OMIM:618237
HP:0100021	Cerebral palsy	79133	NDUFAF5	OMIM:618238
HP:0100021	Cerebral palsy	23431	AP4E1	OMIM:613744
HP:0100021	Cerebral palsy	54820	NDE1	OMIM:605013
HP:0100021	Cerebral palsy	7846	TUBA1A	OMIM:611603
HP:0100021	Cerebral palsy	9179	AP4M1	OMIM:612936
HP:0100021	Cerebral palsy	79709	COLGALT1	OMIM:618360
HP:0100021	Cerebral palsy	4204	MECP2	OMIM:300055
HP:0100021	Cerebral palsy	535	ATP6V0A1	OMIM:619971
HP:0100021	Cerebral palsy	22796	COG2	OMIM:617395
HP:0100021	Cerebral palsy	22796	COG2	ORPHA:435934
HP:0100021	Cerebral palsy	100131801	PET100	OMIM:619055
HP:0100021	Cerebral palsy	7283	TUBG1	OMIM:615412
HP:0100021	Cerebral palsy	79029	AFG2B	OMIM:619616
HP:0100021	Cerebral palsy	10352	WARS2	OMIM:617710
HP:0100021	Cerebral palsy	10352	WARS2	ORPHA:572798
HP:0100021	Cerebral palsy	6709	SPTAN1	OMIM:613477
HP:0100021	Cerebral palsy	1778	DYNC1H1	OMIM:614563
HP:0100021	Cerebral palsy	10381	TUBB3	ORPHA:300570
HP:0100021	Cerebral palsy	3796	KIF2A	OMIM:615411
HP:0100021	Cerebral palsy	123263	MTFMT	OMIM:618248
HP:0100021	Cerebral palsy	170825	GSX2	OMIM:618646
HP:0100021	Cerebral palsy	8560	DEGS1	OMIM:618404
HP:0100021	Cerebral palsy	259232	NALCN	OMIM:615419
HP:0100021	Cerebral palsy	259232	NALCN	ORPHA:371364
HP:0100021	Cerebral palsy	549	AUH	OMIM:250950
HP:0100021	Cerebral palsy	23258	DENND5A	OMIM:617281
HP:0100021	Cerebral palsy	5903	RANBP2	ORPHA:88619
HP:0100021	Cerebral palsy	5903	RANBP2	OMIM:608033
HP:0100021	Cerebral palsy	22872	SEC31A	OMIM:618651
HP:0100021	Cerebral palsy	132158	GLYCTK	OMIM:220120
HP:0100021	Cerebral palsy	128637	TBC1D20	OMIM:615663
HP:0100021	Cerebral palsy	4338	MOCS2	OMIM:252160
HP:0100021	Cerebral palsy	128989	TANGO2	OMIM:616878
HP:0100021	Cerebral palsy	6785	ELOVL4	OMIM:614457
HP:0100021	Cerebral palsy	6905	TBCE	OMIM:617207
HP:0100021	Cerebral palsy	26227	PHGDH	ORPHA:79351
HP:0100021	Cerebral palsy	26227	PHGDH	OMIM:601815
HP:0100021	Cerebral palsy	4990	SIX6	OMIM:206900
HP:0100021	Cerebral palsy	6657	SOX2	OMIM:206900
HP:0100021	Cerebral palsy	59336	PRDM13	OMIM:619909
HP:0100021	Cerebral palsy	1267	CNP	OMIM:619071
HP:0100021	Cerebral palsy	11019	LIAS	OMIM:614462
HP:0100021	Cerebral palsy	56978	PRDM8	OMIM:616640
HP:0100021	Cerebral palsy	6812	STXBP1	OMIM:612164
HP:0100021	Cerebral palsy	3028	HSD17B10	OMIM:300438
HP:0100021	Cerebral palsy	6711	SPTBN1	OMIM:619475
HP:0100021	Cerebral palsy	51633	OTUD6B	OMIM:617452
HP:0100021	Cerebral palsy	51633	OTUD6B	ORPHA:505237
HP:0100021	Cerebral palsy	3747	KCNC2	OMIM:619913
HP:0100021	Cerebral palsy	2517	FUCA1	OMIM:230000
HP:0100021	Cerebral palsy	2517	FUCA1	ORPHA:349
HP:0100021	Cerebral palsy	22931	RAB18	OMIM:614222
HP:0100021	Cerebral palsy	4337	MOCS1	OMIM:252150
HP:0100021	Cerebral palsy	51091	SEPSECS	OMIM:613811
HP:0100021	Cerebral palsy	56270	WDR45B	OMIM:617977
HP:0100021	Cerebral palsy	285175	UNC80	ORPHA:371364
HP:0100021	Cerebral palsy	9289	ADGRG1	ORPHA:98889
HP:0100021	Cerebral palsy	5297	PI4KA	ORPHA:98889
HP:0100021	Cerebral palsy	27286	SRPX2	ORPHA:98889
HP:0100021	Cerebral palsy	1528	CYB5A	ORPHA:621
HP:0100021	Cerebral palsy	1727	CYB5R3	ORPHA:621
HP:0100021	Cerebral palsy	51611	DPH5	OMIM:620070
HP:0100021	Cerebral palsy	5700	PSMC1	OMIM:620071
HP:0100021	Cerebral palsy	8050	PDHX	OMIM:245349
HP:0100021	Cerebral palsy	100147744	RNU7-1	OMIM:619487
HP:0100021	Cerebral palsy	100147744	RNU7-1	ORPHA:51
HP:0100021	Cerebral palsy	90522	YIF1B	OMIM:619125
HP:0100021	Cerebral palsy	3800	KIF5C	OMIM:615282
HP:0100021	Cerebral palsy	6472	SHMT2	OMIM:619121
HP:0100021	Cerebral palsy	2893	GRIA4	OMIM:617864
HP:0100021	Cerebral palsy	23400	ATP13A2	OMIM:617225
HP:0100021	Cerebral palsy	10297	APC2	OMIM:618677
HP:0100021	Cerebral palsy	55164	SHQ1	OMIM:619922
HP:0100021	Cerebral palsy	6509	SLC1A4	OMIM:616657
HP:0100021	Cerebral palsy	9562	MINPP1	OMIM:619527
HP:0100021	Cerebral palsy	6663	SOX10	OMIM:609136
HP:0100021	Cerebral palsy	55739	NAXD	OMIM:618321
HP:0100021	Cerebral palsy	440	ASNS	OMIM:615574
HP:0100021	Cerebral palsy	777	CACNA1E	OMIM:618285
HP:0100021	Cerebral palsy	200205	IBA57	OMIM:615330
HP:0100021	Cerebral palsy	1284	COL4A2	OMIM:614483
HP:0100021	Cerebral palsy	64919	BCL11B	OMIM:617237
HP:0100021	Cerebral palsy	55275	VPS53	OMIM:615851
HP:0100021	Cerebral palsy	57679	ALS2	ORPHA:293168
HP:0100021	Cerebral palsy	57679	ALS2	OMIM:607225
HP:0100021	Cerebral palsy	2806	GOT2	OMIM:618721
HP:0100021	Cerebral palsy	51294	PCDH12	OMIM:251280
HP:0100021	Cerebral palsy	23189	KANK1	OMIM:612900
HP:0100021	Cerebral palsy	2055	CLN8	ORPHA:1947
HP:0100021	Cerebral palsy	57192	MCOLN1	OMIM:252650
HP:0100021	Cerebral palsy	28962	OSTM1	OMIM:259720
HP:0100021	Cerebral palsy	80704	SLC19A3	ORPHA:263410
HP:0100021	Cerebral palsy	3735	KARS1	OMIM:619147
HP:0100021	Cerebral palsy	51645	PPIL1	OMIM:619301
HP:0100021	Cerebral palsy	51362	CDC40	OMIM:619302
HP:0100021	Cerebral palsy	51075	TMX2	OMIM:618730
HP:0100021	Cerebral palsy	1496	CTNNA2	OMIM:618174
HP:0100021	Cerebral palsy	120	ADD3	OMIM:617008
HP:0100021	Cerebral palsy	8398	PLA2G6	OMIM:256600
HP:0100021	Cerebral palsy	6326	SCN2A	OMIM:613721
HP:0100021	Cerebral palsy	55770	EXOC2	OMIM:619306
HP:0100021	Cerebral palsy	10695	CNPY3	OMIM:617929
HP:0100021	Cerebral palsy	10535	RNASEH2A	ORPHA:51
HP:0100021	Cerebral palsy	84153	RNASEH2C	ORPHA:51
HP:0100021	Cerebral palsy	25939	SAMHD1	ORPHA:51
HP:0100021	Cerebral palsy	79621	RNASEH2B	ORPHA:51
HP:0100021	Cerebral palsy	103	ADAR	ORPHA:51
HP:0100021	Cerebral palsy	11277	TREX1	ORPHA:51
HP:0100021	Cerebral palsy	134353	LSM11	ORPHA:51
HP:0100021	Cerebral palsy	64135	IFIH1	ORPHA:51
HP:0100021	Cerebral palsy	2902	GRIN1	ORPHA:208447
HP:0100021	Cerebral palsy	410	ARSA	OMIM:250100
HP:0100021	Cerebral palsy	5621	PRNP	ORPHA:282166
HP:0100021	Cerebral palsy	3155	HMGCL	ORPHA:20
HP:0100021	Cerebral palsy	816	CAMK2B	OMIM:617799
HP:0100021	Cerebral palsy	6857	SYT1	OMIM:618218
HP:0100021	Cerebral palsy	6857	SYT1	ORPHA:522077
HP:0100021	Cerebral palsy	8241	RBM10	ORPHA:2886
HP:0100021	Cerebral palsy	5888	RAD51	ORPHA:238722
HP:0100021	Cerebral palsy	10126	DNAL4	ORPHA:238722
HP:0100021	Cerebral palsy	9423	NTN1	ORPHA:238722
HP:0100021	Cerebral palsy	1630	DCC	ORPHA:238722
HP:0100021	Cerebral palsy	11154	AP4S1	OMIM:614067
HP:0100021	Cerebral palsy	10815	CPLX1	OMIM:617976
HP:0100021	Cerebral palsy	26053	AUTS2	OMIM:615834
HP:0100021	Cerebral palsy	26053	AUTS2	ORPHA:352490
HP:0100021	Cerebral palsy	51692	CPSF3	OMIM:619876
HP:0100021	Cerebral palsy	4897	NRCAM	OMIM:619833
HP:0100021	Cerebral palsy	3425	IDUA	ORPHA:93474
HP:0100021	Cerebral palsy	3425	IDUA	ORPHA:93473
HP:0100021	Cerebral palsy	1776	DNASE1L3	ORPHA:36412
HP:0100021	Cerebral palsy	6697	SPR	ORPHA:70594
HP:0100021	Cerebral palsy	347733	TUBB2B	ORPHA:1766
HP:0100021	Cerebral palsy	7436	VLDLR	ORPHA:1766
HP:0100021	Cerebral palsy	124997	WDR81	ORPHA:1766
HP:0100021	Cerebral palsy	51761	ATP8A2	ORPHA:1766
HP:0100021	Cerebral palsy	767	CA8	ORPHA:1766
HP:0100021	Cerebral palsy	26047	CNTNAP2	ORPHA:163681
HP:0100021	Cerebral palsy	6531	SLC6A3	ORPHA:238455
HP:0100021	Cerebral palsy	23291	FBXW11	OMIM:618914
HP:0100021	Cerebral palsy	2782	GNB1	OMIM:616973
HP:0100021	Cerebral palsy	2555	GABRA2	OMIM:618557
HP:0100021	Cerebral palsy	498	ATP5F1A	OMIM:620358
HP:0100021	Cerebral palsy	6598	SMARCB1	ORPHA:99966
HP:0100021	Cerebral palsy	2811	GP1BA	ORPHA:853
HP:0100021	Cerebral palsy	2812	GP1BB	ORPHA:853
HP:0100021	Cerebral palsy	3674	ITGA2B	ORPHA:853
HP:0100021	Cerebral palsy	3673	ITGA2	ORPHA:853
HP:0100021	Cerebral palsy	135228	CD109	ORPHA:853
HP:0100021	Cerebral palsy	3690	ITGB3	ORPHA:853
HP:0100021	Cerebral palsy	54941	RNF125	OMIM:616260
HP:0100021	Cerebral palsy	5624	PROC	OMIM:612304
HP:0100021	Cerebral palsy	84081	NSRP1	OMIM:620001
HP:0100021	Cerebral palsy	64087	MCCC2	OMIM:210210
HP:0100021	Cerebral palsy	83550	GPR101	ORPHA:963
HP:0100021	Cerebral palsy	9049	AIP	ORPHA:963
HP:0100021	Cerebral palsy	3248	HPGD	ORPHA:2796
HP:0100021	Cerebral palsy	6578	SLCO2A1	ORPHA:2796
HP:0100021	Cerebral palsy	4860	PNP	ORPHA:760
HP:0100021	Cerebral palsy	6329	SCN4A	ORPHA:682
HP:0100021	Cerebral palsy	8884	SLC5A6	OMIM:618973
HP:0100021	Cerebral palsy	3658	IREB2	OMIM:618451
HP:0100021	Cerebral palsy	1641	DCX	ORPHA:2148
HP:0100021	Cerebral palsy	23152	CIC	OMIM:617600
HP:0100021	Cerebral palsy	3418	IDH2	ORPHA:163634
HP:0100021	Cerebral palsy	3417	IDH1	ORPHA:163634
HP:0100021	Cerebral palsy	5092	PCBD1	ORPHA:1578
HP:0100022	Abnormality of movement	91754	NEK9	OMIM:617022
HP:0100022	Abnormality of movement	387119	CEP85L	OMIM:618873
HP:0100022	Abnormality of movement	64221	ROBO3	OMIM:607313
HP:0100022	Abnormality of movement	7703	PCGF2	OMIM:618371
HP:0100022	Abnormality of movement	10935	PRDX3	OMIM:619862
HP:0100022	Abnormality of movement	2313	FLI1	ORPHA:370348
HP:0100022	Abnormality of movement	8558	CDK10	OMIM:617694
HP:0100022	Abnormality of movement	11198	SUPT16H	OMIM:619480
HP:0100022	Abnormality of movement	79796	ALG9	ORPHA:79328
HP:0100022	Abnormality of movement	78989	COLEC11	OMIM:265050
HP:0100022	Abnormality of movement	4617	MYF5	OMIM:618155
HP:0100022	Abnormality of movement	126792	B3GALT6	ORPHA:536467
HP:0100022	Abnormality of movement	3679	ITGA7	OMIM:613204
HP:0100022	Abnormality of movement	7042	TGFB2	OMIM:614816
HP:0100022	Abnormality of movement	57167	SALL4	ORPHA:233
HP:0100022	Abnormality of movement	1123	CHN1	ORPHA:233
HP:0100022	Abnormality of movement	7291	TWIST1	ORPHA:794
HP:0100022	Abnormality of movement	2263	FGFR2	ORPHA:794
HP:0100022	Abnormality of movement	2261	FGFR3	ORPHA:794
HP:0100022	Abnormality of movement	1816	DRD5	OMIM:606798
HP:0100022	Abnormality of movement	3339	HSPG2	ORPHA:800
HP:0100022	Abnormality of movement	84172	POLR1B	ORPHA:861
HP:0100022	Abnormality of movement	51082	POLR1D	ORPHA:861
HP:0100022	Abnormality of movement	6949	TCOF1	ORPHA:861
HP:0100022	Abnormality of movement	19	ABCA1	OMIM:205400
HP:0100022	Abnormality of movement	7252	TSHB	ORPHA:90674
HP:0100022	Abnormality of movement	1351	COX8A	OMIM:619059
HP:0100022	Abnormality of movement	10801	SEPTIN9	OMIM:162100
HP:0100022	Abnormality of movement	1187	CLCNKA	OMIM:613090
HP:0100022	Abnormality of movement	1188	CLCNKB	OMIM:613090
HP:0100022	Abnormality of movement	5626	PROP1	ORPHA:226307
HP:0100022	Abnormality of movement	89884	LHX4	ORPHA:226307
HP:0100022	Abnormality of movement	8022	LHX3	ORPHA:226307
HP:0100022	Abnormality of movement	5449	POU1F1	ORPHA:226307
HP:0100022	Abnormality of movement	55699	IARS2	OMIM:616007
HP:0100022	Abnormality of movement	59335	PRDM12	OMIM:616488
HP:0100022	Abnormality of movement	79753	SNIP1	OMIM:614501
HP:0100022	Abnormality of movement	92667	MGME1	ORPHA:352447
HP:0100022	Abnormality of movement	92667	MGME1	OMIM:615084
HP:0100022	Abnormality of movement	4669	NAGLU	OMIM:616491
HP:0100022	Abnormality of movement	51651	PTRH2	OMIM:616263
HP:0100022	Abnormality of movement	51750	RTEL1	ORPHA:3322
HP:0100022	Abnormality of movement	65057	ACD	ORPHA:3322
HP:0100022	Abnormality of movement	5073	PARN	ORPHA:3322
HP:0100022	Abnormality of movement	26277	TINF2	ORPHA:3322
HP:0100022	Abnormality of movement	1736	DKC1	ORPHA:3322
HP:0100022	Abnormality of movement	51013	EXOSC1	OMIM:619304
HP:0100022	Abnormality of movement	79705	LRRK1	OMIM:615198
HP:0100022	Abnormality of movement	51807	TUBA8	ORPHA:250972
HP:0100022	Abnormality of movement	2200	FBN1	ORPHA:284979
HP:0100022	Abnormality of movement	256297	PTF1A	OMIM:609069
HP:0100022	Abnormality of movement	7555	CNBP	OMIM:602668
HP:0100022	Abnormality of movement	5191	PEX7	OMIM:266500
HP:0100022	Abnormality of movement	5264	PHYH	OMIM:266500
HP:0100022	Abnormality of movement	57551	TAOK1	OMIM:619575
HP:0100022	Abnormality of movement	405753	DUOXA2	ORPHA:95716
HP:0100022	Abnormality of movement	6528	SLC5A5	ORPHA:95716
HP:0100022	Abnormality of movement	7038	TG	ORPHA:95716
HP:0100022	Abnormality of movement	7173	TPO	ORPHA:95716
HP:0100022	Abnormality of movement	389434	IYD	ORPHA:95716
HP:0100022	Abnormality of movement	50506	DUOX2	ORPHA:95716
HP:0100022	Abnormality of movement	7809	BSND	OMIM:602522
HP:0100022	Abnormality of movement	55687	TRMU	ORPHA:254864
HP:0100022	Abnormality of movement	5498	PPOX	ORPHA:79473
HP:0100022	Abnormality of movement	9531	BAG3	OMIM:612954
HP:0100022	Abnormality of movement	57003	CCDC47	OMIM:618268
HP:0100022	Abnormality of movement	9759	HDAC4	OMIM:600430
HP:0100022	Abnormality of movement	1716	DGUOK	OMIM:617070
HP:0100022	Abnormality of movement	9181	ARHGEF2	OMIM:617523
HP:0100022	Abnormality of movement	9987	HNRNPDL	OMIM:609115
HP:0100022	Abnormality of movement	84520	GON7	OMIM:619603
HP:0100022	Abnormality of movement	55250	ELP2	OMIM:617270
HP:0100022	Abnormality of movement	5455	POU3F3	OMIM:618604
HP:0100022	Abnormality of movement	50717	DCAF8	OMIM:610100
HP:0100022	Abnormality of movement	55775	TDP1	ORPHA:94124
HP:0100022	Abnormality of movement	55775	TDP1	OMIM:607250
HP:0100022	Abnormality of movement	5339	PLEC	ORPHA:254361
HP:0100022	Abnormality of movement	56704	JPH1	OMIM:607831
HP:0100022	Abnormality of movement	8566	PDXK	OMIM:618511
HP:0100022	Abnormality of movement	1020	CDK5	OMIM:616342
HP:0100022	Abnormality of movement	966	CD59	OMIM:612300
HP:0100022	Abnormality of movement	4632	MYL1	OMIM:618414
HP:0100022	Abnormality of movement	79731	NARS2	OMIM:616239
HP:0100022	Abnormality of movement	9895	TECPR2	OMIM:615031
HP:0100022	Abnormality of movement	9895	TECPR2	ORPHA:320385
HP:0100022	Abnormality of movement	57863	CADM3	OMIM:619519
HP:0100022	Abnormality of movement	92609	TIMM50	OMIM:617698
HP:0100022	Abnormality of movement	8659	ALDH4A1	ORPHA:79101
HP:0100022	Abnormality of movement	4952	OCRL	OMIM:309000
HP:0100022	Abnormality of movement	4952	OCRL	ORPHA:534
HP:0100022	Abnormality of movement	23175	LPIN1	OMIM:268200
HP:0100022	Abnormality of movement	2548	GAA	ORPHA:308552
HP:0100022	Abnormality of movement	2548	GAA	OMIM:232300
HP:0100022	Abnormality of movement	163175	LGI4	OMIM:617468
HP:0100022	Abnormality of movement	51128	SAR1B	ORPHA:71
HP:0100022	Abnormality of movement	8565	YARS1	OMIM:608323
HP:0100022	Abnormality of movement	91949	COG7	ORPHA:79333
HP:0100022	Abnormality of movement	9342	SNAP29	OMIM:609528
HP:0100022	Abnormality of movement	9342	SNAP29	ORPHA:66631
HP:0100022	Abnormality of movement	729920	CRPPA	OMIM:614643
HP:0100022	Abnormality of movement	729920	CRPPA	ORPHA:899
HP:0100022	Abnormality of movement	26353	HSPB8	OMIM:608673
HP:0100022	Abnormality of movement	23479	ISCU	OMIM:255125
HP:0100022	Abnormality of movement	54463	RETREG1	OMIM:201300
HP:0100022	Abnormality of movement	54463	RETREG1	OMIM:613115
HP:0100022	Abnormality of movement	65125	WNK1	OMIM:201300
HP:0100022	Abnormality of movement	667	DST	OMIM:614653
HP:0100022	Abnormality of movement	1337	COX6A1	OMIM:616039
HP:0100022	Abnormality of movement	23590	PDSS1	OMIM:614651
HP:0100022	Abnormality of movement	56052	ALG1	OMIM:608540
HP:0100022	Abnormality of movement	8729	GBF1	OMIM:606483
HP:0100022	Abnormality of movement	9488	PIGB	OMIM:618580
HP:0100022	Abnormality of movement	112	ADCY6	OMIM:616287
HP:0100022	Abnormality of movement	270	AMPD1	OMIM:615511
HP:0100022	Abnormality of movement	79912	PYROXD1	OMIM:617258
HP:0100022	Abnormality of movement	84892	POMGNT2	ORPHA:899
HP:0100022	Abnormality of movement	10329	RXYLT1	ORPHA:899
HP:0100022	Abnormality of movement	11041	B4GAT1	ORPHA:899
HP:0100022	Abnormality of movement	84197	POMK	ORPHA:899
HP:0100022	Abnormality of movement	51008	ASCC1	OMIM:616867
HP:0100022	Abnormality of movement	64423	INF2	OMIM:614455
HP:0100022	Abnormality of movement	10755	GIPC1	ORPHA:98897
HP:0100022	Abnormality of movement	340075	ARSI	ORPHA:401815
HP:0100022	Abnormality of movement	1890	TYMP	OMIM:603041
HP:0100022	Abnormality of movement	283446	MYO1H	OMIM:619482
HP:0100022	Abnormality of movement	476	ATP1A1	OMIM:618036
HP:0100022	Abnormality of movement	859	CAV3	ORPHA:488650
HP:0100022	Abnormality of movement	29929	ALG6	OMIM:603147
HP:0100022	Abnormality of movement	5528	PPP2R5D	ORPHA:457279
HP:0100022	Abnormality of movement	51099	ABHD5	ORPHA:98907
HP:0100022	Abnormality of movement	7515	XRCC1	OMIM:617633
HP:0100022	Abnormality of movement	57731	SPTBN4	OMIM:617519
HP:0100022	Abnormality of movement	8449	DHX16	OMIM:618733
HP:0100022	Abnormality of movement	4524	MTHFR	ORPHA:395
HP:0100022	Abnormality of movement	4524	MTHFR	OMIM:236250
HP:0100022	Abnormality of movement	8518	ELP1	ORPHA:1764
HP:0100022	Abnormality of movement	84334	COA8	ORPHA:436271
HP:0100022	Abnormality of movement	2067	ERCC1	ORPHA:90322
HP:0100022	Abnormality of movement	57589	RIC1	OMIM:618761
HP:0100022	Abnormality of movement	2697	GJA1	ORPHA:2710
HP:0100022	Abnormality of movement	8726	EED	OMIM:617561
HP:0100022	Abnormality of movement	11107	PRDM5	OMIM:614170
HP:0100022	Abnormality of movement	11107	PRDM5	ORPHA:90354
HP:0100022	Abnormality of movement	8789	FBP2	OMIM:619864
HP:0100022	Abnormality of movement	88	ACTN2	OMIM:618655
HP:0100022	Abnormality of movement	7471	WNT1	ORPHA:85193
HP:0100022	Abnormality of movement	89780	WNT3A	ORPHA:85193
HP:0100022	Abnormality of movement	4854	NOTCH3	OMIM:125310
HP:0100022	Abnormality of movement	4854	NOTCH3	ORPHA:136
HP:0100022	Abnormality of movement	1763	DNA2	OMIM:615156
HP:0100022	Abnormality of movement	1763	DNA2	ORPHA:352470
HP:0100022	Abnormality of movement	5590	PRKCZ	ORPHA:1606
HP:0100022	Abnormality of movement	8510	MMP23B	ORPHA:1606
HP:0100022	Abnormality of movement	7798	LUZP1	ORPHA:1606
HP:0100022	Abnormality of movement	6497	SKI	ORPHA:1606
HP:0100022	Abnormality of movement	10630	PDPN	ORPHA:1606
HP:0100022	Abnormality of movement	10277	UBE4B	ORPHA:1606
HP:0100022	Abnormality of movement	8514	KCNAB2	ORPHA:1606
HP:0100022	Abnormality of movement	473	RERE	ORPHA:1606
HP:0100022	Abnormality of movement	63976	PRDM16	ORPHA:1606
HP:0100022	Abnormality of movement	54897	CASZ1	ORPHA:1606
HP:0100022	Abnormality of movement	8517	IKBKG	ORPHA:464
HP:0100022	Abnormality of movement	6901	TAFAZZIN	OMIM:302060
HP:0100022	Abnormality of movement	9338	TCEAL1	OMIM:301094
HP:0100022	Abnormality of movement	84627	ZNF469	ORPHA:90354
HP:0100022	Abnormality of movement	1967	EIF2B1	OMIM:603896
HP:0100022	Abnormality of movement	3508	IGHMBP2	OMIM:616155
HP:0100022	Abnormality of movement	5081	PAX7	OMIM:618578
HP:0100022	Abnormality of movement	165918	RNF168	ORPHA:420741
HP:0100022	Abnormality of movement	149233	IL23R	ORPHA:117
HP:0100022	Abnormality of movement	6775	STAT4	ORPHA:117
HP:0100022	Abnormality of movement	3586	IL10	ORPHA:117
HP:0100022	Abnormality of movement	4210	MEFV	ORPHA:117
HP:0100022	Abnormality of movement	1230	CCR1	ORPHA:117
HP:0100022	Abnormality of movement	355	FAS	ORPHA:117
HP:0100022	Abnormality of movement	3592	IL12A	ORPHA:117
HP:0100022	Abnormality of movement	101928376	IL12A-AS1	ORPHA:117
HP:0100022	Abnormality of movement	3106	HLA-B	ORPHA:117
HP:0100022	Abnormality of movement	7099	TLR4	ORPHA:117
HP:0100022	Abnormality of movement	3459	IFNGR1	ORPHA:117
HP:0100022	Abnormality of movement	720	C4A	ORPHA:117
HP:0100022	Abnormality of movement	337867	UBAC2	ORPHA:117
HP:0100022	Abnormality of movement	51752	ERAP1	ORPHA:117
HP:0100022	Abnormality of movement	8302	KLRC4	ORPHA:117
HP:0100022	Abnormality of movement	825	CAPN3	OMIM:618129
HP:0100022	Abnormality of movement	2632	GBE1	ORPHA:206583
HP:0100022	Abnormality of movement	2632	GBE1	OMIM:263570
HP:0100022	Abnormality of movement	5903	RANBP2	ORPHA:88619
HP:0100022	Abnormality of movement	3188	HNRNPH2	OMIM:300986
HP:0100022	Abnormality of movement	4548	MTR	OMIM:250940
HP:0100022	Abnormality of movement	26137	ZBTB20	ORPHA:3042
HP:0100022	Abnormality of movement	80217	CFAP43	OMIM:236690
HP:0100022	Abnormality of movement	7421	VDR	ORPHA:93160
HP:0100022	Abnormality of movement	2314	FLII	ORPHA:819
HP:0100022	Abnormality of movement	65998	ZFTA	ORPHA:251636
HP:0100022	Abnormality of movement	5970	RELA	ORPHA:251636
HP:0100022	Abnormality of movement	9896	FIG4	OMIM:611228
HP:0100022	Abnormality of movement	8905	AP1S2	ORPHA:85335
HP:0100022	Abnormality of movement	8905	AP1S2	ORPHA:85329
HP:0100022	Abnormality of movement	25894	PLEKHG4	ORPHA:98765
HP:0100022	Abnormality of movement	255928	SYT14	ORPHA:284271
HP:0100022	Abnormality of movement	255928	SYT14	OMIM:614229
HP:0100022	Abnormality of movement	8106	PABPN1	OMIM:164300
HP:0100022	Abnormality of movement	3300	DNAJB2	OMIM:614881
HP:0100022	Abnormality of movement	4313	MMP2	OMIM:259600
HP:0100022	Abnormality of movement	60681	FKBP10	ORPHA:1149
HP:0100022	Abnormality of movement	51142	CHCHD2	OMIM:616710
HP:0100022	Abnormality of movement	2316	FLNA	OMIM:309350
HP:0100022	Abnormality of movement	3720	JARID2	OMIM:620098
HP:0100022	Abnormality of movement	579	NKX3-2	OMIM:613330
HP:0100022	Abnormality of movement	4038	LRP4	OMIM:614305
HP:0100022	Abnormality of movement	125988	MICOS13	ORPHA:67047
HP:0100022	Abnormality of movement	113179	ADAT3	ORPHA:363528
HP:0100022	Abnormality of movement	3035	HARS1	ORPHA:488333
HP:0100022	Abnormality of movement	3035	HARS1	OMIM:616625
HP:0100022	Abnormality of movement	953	ENTPD1	ORPHA:401810
HP:0100022	Abnormality of movement	953	ENTPD1	OMIM:615683
HP:0100022	Abnormality of movement	6197	RPS6KA3	ORPHA:192
HP:0100022	Abnormality of movement	7874	USP7	ORPHA:500055
HP:0100022	Abnormality of movement	11340	EXOSC8	OMIM:616081
HP:0100022	Abnormality of movement	11340	EXOSC8	ORPHA:2254
HP:0100022	Abnormality of movement	23250	ATP11A	OMIM:619851
HP:0100022	Abnormality of movement	7317	UBA1	ORPHA:1145
HP:0100022	Abnormality of movement	7317	UBA1	OMIM:301830
HP:0100022	Abnormality of movement	64856	VWA1	OMIM:619216
HP:0100022	Abnormality of movement	203190	LGI3	OMIM:620007
HP:0100022	Abnormality of movement	51010	EXOSC3	ORPHA:2254
HP:0100022	Abnormality of movement	51010	EXOSC3	OMIM:614678
HP:0100022	Abnormality of movement	79581	SLC52A2	OMIM:614707
HP:0100022	Abnormality of movement	51305	KCNK9	ORPHA:166108
HP:0100022	Abnormality of movement	84466	MEGF10	OMIM:614399
HP:0100022	Abnormality of movement	89874	SLC25A21	OMIM:618811
HP:0100022	Abnormality of movement	1959	EGR2	OMIM:145900
HP:0100022	Abnormality of movement	57716	PRX	OMIM:145900
HP:0100022	Abnormality of movement	1374	CPT1A	ORPHA:156
HP:0100022	Abnormality of movement	1621	DBH	ORPHA:230
HP:0100022	Abnormality of movement	3265	HRAS	ORPHA:2612
HP:0100022	Abnormality of movement	4893	NRAS	ORPHA:2612
HP:0100022	Abnormality of movement	338	APOB	OMIM:615558
HP:0100022	Abnormality of movement	5309	PITX3	OMIM:610623
HP:0100022	Abnormality of movement	2671	GFER	ORPHA:330054
HP:0100022	Abnormality of movement	4591	TRIM37	ORPHA:2576
HP:0100022	Abnormality of movement	81839	VANGL1	ORPHA:3027
HP:0100022	Abnormality of movement	80199	FUZ	ORPHA:3027
HP:0100022	Abnormality of movement	5162	PDHB	ORPHA:255138
HP:0100022	Abnormality of movement	1140	CHRNB1	ORPHA:98913
HP:0100022	Abnormality of movement	1145	CHRNE	ORPHA:98913
HP:0100022	Abnormality of movement	221264	AK9	ORPHA:98913
HP:0100022	Abnormality of movement	34	ACADM	ORPHA:42
HP:0100022	Abnormality of movement	6023	RMRP	ORPHA:175
HP:0100022	Abnormality of movement	5351	PLOD1	ORPHA:1900
HP:0100022	Abnormality of movement	1795	DOCK3	OMIM:618292
HP:0100022	Abnormality of movement	4509	MT-ATP8	ORPHA:480
HP:0100022	Abnormality of movement	5696	PSMB8	OMIM:256040
HP:0100022	Abnormality of movement	50846	DHH	ORPHA:168563
HP:0100022	Abnormality of movement	7507	XPA	ORPHA:910
HP:0100022	Abnormality of movement	7508	XPC	ORPHA:910
HP:0100022	Abnormality of movement	1643	DDB2	ORPHA:910
HP:0100022	Abnormality of movement	7528	YY1	ORPHA:506358
HP:0100022	Abnormality of movement	7528	YY1	OMIM:617557
HP:0100022	Abnormality of movement	4287	ATXN3	OMIM:109150
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276238
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276244
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276241
HP:0100022	Abnormality of movement	55703	POLR3B	OMIM:614381
HP:0100022	Abnormality of movement	55703	POLR3B	OMIM:607694
HP:0100022	Abnormality of movement	26235	FBXL4	OMIM:615471
HP:0100022	Abnormality of movement	8367	H4C5	OMIM:619950
HP:0100022	Abnormality of movement	6834	SURF1	OMIM:616684
HP:0100022	Abnormality of movement	6834	SURF1	ORPHA:70474
HP:0100022	Abnormality of movement	6834	SURF1	ORPHA:255241
HP:0100022	Abnormality of movement	51569	UFM1	OMIM:617899
HP:0100022	Abnormality of movement	23446	SLC44A1	OMIM:618868
HP:0100022	Abnormality of movement	11284	PNKP	ORPHA:459033
HP:0100022	Abnormality of movement	11284	PNKP	OMIM:616267
HP:0100022	Abnormality of movement	11284	PNKP	ORPHA:1934
HP:0100022	Abnormality of movement	84942	WDR73	OMIM:251300
HP:0100022	Abnormality of movement	57165	GJC2	OMIM:608804
HP:0100022	Abnormality of movement	4535	MT-ND1	ORPHA:255210
HP:0100022	Abnormality of movement	4535	MT-ND1	OMIM:535000
HP:0100022	Abnormality of movement	4536	MT-ND2	ORPHA:255210
HP:0100022	Abnormality of movement	4536	MT-ND2	OMIM:535000
HP:0100022	Abnormality of movement	4537	MT-ND3	ORPHA:255210
HP:0100022	Abnormality of movement	4538	MT-ND4	ORPHA:255210
HP:0100022	Abnormality of movement	4538	MT-ND4	OMIM:535000
HP:0100022	Abnormality of movement	4567	MT-TL1	ORPHA:255210
HP:0100022	Abnormality of movement	4578	MT-TW	ORPHA:255210
HP:0100022	Abnormality of movement	4577	MT-TV	ORPHA:255210
HP:0100022	Abnormality of movement	4508	MT-ATP6	ORPHA:255210
HP:0100022	Abnormality of movement	4508	MT-ATP6	OMIM:535000
HP:0100022	Abnormality of movement	4508	MT-ATP6	ORPHA:225154
HP:0100022	Abnormality of movement	4540	MT-ND5	ORPHA:255210
HP:0100022	Abnormality of movement	4540	MT-ND5	OMIM:535000
HP:0100022	Abnormality of movement	4541	MT-ND6	ORPHA:255210
HP:0100022	Abnormality of movement	4541	MT-ND6	OMIM:535000
HP:0100022	Abnormality of movement	4566	MT-TK	ORPHA:255210
HP:0100022	Abnormality of movement	2593	GAMT	ORPHA:382
HP:0100022	Abnormality of movement	3074	HEXB	ORPHA:309169
HP:0100022	Abnormality of movement	5917	RARS1	ORPHA:438114
HP:0100022	Abnormality of movement	5917	RARS1	OMIM:616140
HP:0100022	Abnormality of movement	56997	COQ8A	ORPHA:139485
HP:0100022	Abnormality of movement	387787	LIPT2	OMIM:617668
HP:0100022	Abnormality of movement	57156	TMEM63C	OMIM:619966
HP:0100022	Abnormality of movement	3781	KCNN2	OMIM:619724
HP:0100022	Abnormality of movement	3781	KCNN2	OMIM:619725
HP:0100022	Abnormality of movement	51112	TRAPPC12	OMIM:617669
HP:0100022	Abnormality of movement	51112	TRAPPC12	ORPHA:500144
HP:0100022	Abnormality of movement	23400	ATP13A2	ORPHA:314632
HP:0100022	Abnormality of movement	23400	ATP13A2	ORPHA:513436
HP:0100022	Abnormality of movement	23400	ATP13A2	OMIM:606693
HP:0100022	Abnormality of movement	2192	FBLN1	ORPHA:404451
HP:0100022	Abnormality of movement	410	ARSA	ORPHA:309271
HP:0100022	Abnormality of movement	410	ARSA	ORPHA:309263
HP:0100022	Abnormality of movement	410	ARSA	OMIM:250100
HP:0100022	Abnormality of movement	410	ARSA	ORPHA:309256
HP:0100022	Abnormality of movement	5660	PSAP	ORPHA:309271
HP:0100022	Abnormality of movement	5660	PSAP	ORPHA:309263
HP:0100022	Abnormality of movement	5660	PSAP	ORPHA:309256
HP:0100022	Abnormality of movement	5660	PSAP	ORPHA:139406
HP:0100022	Abnormality of movement	348	APOE	OMIM:607822
HP:0100022	Abnormality of movement	5663	PSEN1	OMIM:607822
HP:0100022	Abnormality of movement	103	ADAR	OMIM:615010
HP:0100022	Abnormality of movement	103	ADAR	ORPHA:225154
HP:0100022	Abnormality of movement	103	ADAR	ORPHA:51
HP:0100022	Abnormality of movement	79029	AFG2B	OMIM:619616
HP:0100022	Abnormality of movement	10352	WARS2	OMIM:619738
HP:0100022	Abnormality of movement	10352	WARS2	OMIM:617710
HP:0100022	Abnormality of movement	7994	KAT6A	ORPHA:457193
HP:0100022	Abnormality of movement	7994	KAT6A	OMIM:616268
HP:0100022	Abnormality of movement	8560	DEGS1	OMIM:618404
HP:0100022	Abnormality of movement	10939	AFG3L2	ORPHA:313772
HP:0100022	Abnormality of movement	10939	AFG3L2	ORPHA:101109
HP:0100022	Abnormality of movement	10939	AFG3L2	OMIM:610246
HP:0100022	Abnormality of movement	10939	AFG3L2	OMIM:614487
HP:0100022	Abnormality of movement	6872	TAF1	ORPHA:480907
HP:0100022	Abnormality of movement	6872	TAF1	OMIM:300966
HP:0100022	Abnormality of movement	23312	DMXL2	OMIM:616113
HP:0100022	Abnormality of movement	23312	DMXL2	ORPHA:453533
HP:0100022	Abnormality of movement	23312	DMXL2	ORPHA:1934
HP:0100022	Abnormality of movement	83636	C19orf12	OMIM:614298
HP:0100022	Abnormality of movement	833	CARS1	OMIM:618891
HP:0100022	Abnormality of movement	51271	UBAP1	OMIM:618418
HP:0100022	Abnormality of movement	54840	APTX	OMIM:208920
HP:0100022	Abnormality of movement	54832	VPS13C	ORPHA:2828
HP:0100022	Abnormality of movement	11315	PARK7	ORPHA:2828
HP:0100022	Abnormality of movement	7345	UCHL1	ORPHA:2828
HP:0100022	Abnormality of movement	27429	HTRA2	ORPHA:2828
HP:0100022	Abnormality of movement	27429	HTRA2	OMIM:617248
HP:0100022	Abnormality of movement	120892	LRRK2	ORPHA:2828
HP:0100022	Abnormality of movement	120892	LRRK2	ORPHA:411602
HP:0100022	Abnormality of movement	6622	SNCA	ORPHA:2828
HP:0100022	Abnormality of movement	6622	SNCA	OMIM:168601
HP:0100022	Abnormality of movement	6622	SNCA	ORPHA:171695
HP:0100022	Abnormality of movement	6622	SNCA	ORPHA:411602
HP:0100022	Abnormality of movement	65018	PINK1	ORPHA:2828
HP:0100022	Abnormality of movement	65018	PINK1	OMIM:605909
HP:0100022	Abnormality of movement	5071	PRKN	ORPHA:2828
HP:0100022	Abnormality of movement	5071	PRKN	OMIM:600116
HP:0100022	Abnormality of movement	284439	SLC25A42	OMIM:618416
HP:0100022	Abnormality of movement	8398	PLA2G6	ORPHA:199351
HP:0100022	Abnormality of movement	8398	PLA2G6	OMIM:612953
HP:0100022	Abnormality of movement	8398	PLA2G6	OMIM:610217
HP:0100022	Abnormality of movement	8398	PLA2G6	ORPHA:35069
HP:0100022	Abnormality of movement	113612	CYP2U1	OMIM:615030
HP:0100022	Abnormality of movement	113612	CYP2U1	ORPHA:320411
HP:0100022	Abnormality of movement	84504	NKX6-2	ORPHA:527497
HP:0100022	Abnormality of movement	55280	CWF19L1	OMIM:616127
HP:0100022	Abnormality of movement	55280	CWF19L1	ORPHA:453521
HP:0100022	Abnormality of movement	54902	TTC19	OMIM:615157
HP:0100022	Abnormality of movement	7701	ZNF142	OMIM:618425
HP:0100022	Abnormality of movement	2643	GCH1	OMIM:233910
HP:0100022	Abnormality of movement	2643	GCH1	OMIM:128230
HP:0100022	Abnormality of movement	150468	CKAP2L	OMIM:272440
HP:0100022	Abnormality of movement	111	ADCY5	OMIM:606703
HP:0100022	Abnormality of movement	111	ADCY5	OMIM:619647
HP:0100022	Abnormality of movement	111	ADCY5	ORPHA:324588
HP:0100022	Abnormality of movement	111	ADCY5	OMIM:619651
HP:0100022	Abnormality of movement	79991	STN1	OMIM:617341
HP:0100022	Abnormality of movement	7358	UGDH	OMIM:618792
HP:0100022	Abnormality of movement	2720	GLB1	OMIM:230650
HP:0100022	Abnormality of movement	2720	GLB1	ORPHA:79255
HP:0100022	Abnormality of movement	2904	GRIN2B	OMIM:616139
HP:0100022	Abnormality of movement	2904	GRIN2B	OMIM:613970
HP:0100022	Abnormality of movement	1356	CP	ORPHA:48818
HP:0100022	Abnormality of movement	57462	MYORG	OMIM:618317
HP:0100022	Abnormality of movement	7841	MOGS	ORPHA:79330
HP:0100022	Abnormality of movement	540	ATP7B	OMIM:277900
HP:0100022	Abnormality of movement	55739	NAXD	OMIM:618321
HP:0100022	Abnormality of movement	85365	ALG2	OMIM:607906
HP:0100022	Abnormality of movement	10463	SLC30A9	OMIM:617595
HP:0100022	Abnormality of movement	4052	LTBP1	ORPHA:90349
HP:0100022	Abnormality of movement	30008	EFEMP2	ORPHA:90349
HP:0100022	Abnormality of movement	10516	FBLN5	ORPHA:90349
HP:0100022	Abnormality of movement	10195	ALG3	ORPHA:79321
HP:0100022	Abnormality of movement	6843	VAMP1	ORPHA:251282
HP:0100022	Abnormality of movement	6843	VAMP1	OMIM:108600
HP:0100022	Abnormality of movement	57192	MCOLN1	OMIM:252650
HP:0100022	Abnormality of movement	2512	FTL	ORPHA:157846
HP:0100022	Abnormality of movement	2512	FTL	OMIM:606159
HP:0100022	Abnormality of movement	2629	GBA1	ORPHA:77260
HP:0100022	Abnormality of movement	2629	GBA1	OMIM:168600
HP:0100022	Abnormality of movement	2629	GBA1	ORPHA:411602
HP:0100022	Abnormality of movement	25970	SH2B1	ORPHA:261197
HP:0100022	Abnormality of movement	10533	ATG7	OMIM:619422
HP:0100022	Abnormality of movement	51645	PPIL1	OMIM:619301
HP:0100022	Abnormality of movement	51362	CDC40	OMIM:619302
HP:0100022	Abnormality of movement	81570	CLPB	OMIM:616271
HP:0100022	Abnormality of movement	79734	KCTD17	OMIM:616398
HP:0100022	Abnormality of movement	79734	KCTD17	ORPHA:36899
HP:0100022	Abnormality of movement	1892	ECHS1	OMIM:616277
HP:0100022	Abnormality of movement	1892	ECHS1	ORPHA:255241
HP:0100022	Abnormality of movement	16	AARS1	OMIM:619661
HP:0100022	Abnormality of movement	133686	NADK2	OMIM:616034
HP:0100022	Abnormality of movement	133686	NADK2	ORPHA:431361
HP:0100022	Abnormality of movement	3658	IREB2	OMIM:618451
HP:0100022	Abnormality of movement	2583	B4GALNT1	OMIM:609195
HP:0100022	Abnormality of movement	2583	B4GALNT1	ORPHA:101006
HP:0100022	Abnormality of movement	4514	MT-CO3	OMIM:535000
HP:0100022	Abnormality of movement	4519	MT-CYB	OMIM:535000
HP:0100022	Abnormality of movement	4539	MT-ND4L	OMIM:535000
HP:0100022	Abnormality of movement	3736	KCNA1	ORPHA:1934
HP:0100022	Abnormality of movement	3736	KCNA1	ORPHA:98809
HP:0100022	Abnormality of movement	9091	PIGQ	ORPHA:1934
HP:0100022	Abnormality of movement	81603	TRIM8	ORPHA:1934
HP:0100022	Abnormality of movement	79751	SLC25A22	ORPHA:1934
HP:0100022	Abnormality of movement	150094	SIK1	ORPHA:1934
HP:0100022	Abnormality of movement	8573	CASK	ORPHA:1934
HP:0100022	Abnormality of movement	2917	GRM7	ORPHA:1934
HP:0100022	Abnormality of movement	170302	ARX	ORPHA:1934
HP:0100022	Abnormality of movement	170302	ARX	OMIM:308350
HP:0100022	Abnormality of movement	6326	SCN2A	ORPHA:1934
HP:0100022	Abnormality of movement	6326	SCN2A	OMIM:618924
HP:0100022	Abnormality of movement	6324	SCN1B	ORPHA:1934
HP:0100022	Abnormality of movement	7080	NKX2-1	OMIM:610978
HP:0100022	Abnormality of movement	7080	NKX2-1	ORPHA:209905
HP:0100022	Abnormality of movement	4594	MMUT	ORPHA:79312
HP:0100022	Abnormality of movement	4594	MMUT	ORPHA:289916
HP:0100022	Abnormality of movement	2639	GCDH	ORPHA:25
HP:0100022	Abnormality of movement	2639	GCDH	OMIM:231670
HP:0100022	Abnormality of movement	4728	NDUFS8	OMIM:618222
HP:0100022	Abnormality of movement	4728	NDUFS8	ORPHA:255241
HP:0100022	Abnormality of movement	79876	UBA5	OMIM:617132
HP:0100022	Abnormality of movement	374291	NDUFS7	OMIM:618224
HP:0100022	Abnormality of movement	374291	NDUFS7	ORPHA:255241
HP:0100022	Abnormality of movement	51728	POLR3K	OMIM:619310
HP:0100022	Abnormality of movement	4719	NDUFS1	OMIM:618226
HP:0100022	Abnormality of movement	4719	NDUFS1	ORPHA:255241
HP:0100022	Abnormality of movement	4967	OGDH	OMIM:203740
HP:0100022	Abnormality of movement	7415	VCP	OMIM:167320
HP:0100022	Abnormality of movement	4143	MAT1A	OMIM:250850
HP:0100022	Abnormality of movement	5428	POLG	OMIM:258450
HP:0100022	Abnormality of movement	10102	TSFM	OMIM:610505
HP:0100022	Abnormality of movement	26275	HIBCH	ORPHA:88639
HP:0100022	Abnormality of movement	26275	HIBCH	OMIM:250620
HP:0100022	Abnormality of movement	56521	DNAJC12	OMIM:617384
HP:0100022	Abnormality of movement	478	ATP1A3	OMIM:601338
HP:0100022	Abnormality of movement	478	ATP1A3	OMIM:614820
HP:0100022	Abnormality of movement	478	ATP1A3	OMIM:128235
HP:0100022	Abnormality of movement	478	ATP1A3	ORPHA:1171
HP:0100022	Abnormality of movement	478	ATP1A3	ORPHA:2131
HP:0100022	Abnormality of movement	64801	ARV1	OMIM:617020
HP:0100022	Abnormality of movement	518	ATP5MC3	OMIM:619681
HP:0100022	Abnormality of movement	51601	LIPT1	OMIM:616299
HP:0100022	Abnormality of movement	51601	LIPT1	ORPHA:255241
HP:0100022	Abnormality of movement	4722	NDUFS3	OMIM:618230
HP:0100022	Abnormality of movement	4722	NDUFS3	ORPHA:255241
HP:0100022	Abnormality of movement	8878	SQSTM1	OMIM:617145
HP:0100022	Abnormality of movement	29078	NDUFAF4	OMIM:618237
HP:0100022	Abnormality of movement	79133	NDUFAF5	OMIM:618238
HP:0100022	Abnormality of movement	79133	NDUFAF5	ORPHA:255241
HP:0100022	Abnormality of movement	137682	NDUFAF6	OMIM:618239
HP:0100022	Abnormality of movement	137682	NDUFAF6	ORPHA:255241
HP:0100022	Abnormality of movement	11152	WDR45	ORPHA:329284
HP:0100022	Abnormality of movement	11152	WDR45	OMIM:300894
HP:0100022	Abnormality of movement	55967	NDUFA12	OMIM:618244
HP:0100022	Abnormality of movement	55967	NDUFA12	ORPHA:255241
HP:0100022	Abnormality of movement	4704	NDUFA9	OMIM:618247
HP:0100022	Abnormality of movement	4704	NDUFA9	ORPHA:255241
HP:0100022	Abnormality of movement	29978	UBQLN2	OMIM:300857
HP:0100022	Abnormality of movement	6334	SCN8A	OMIM:618364
HP:0100022	Abnormality of movement	6334	SCN8A	ORPHA:31709
HP:0100022	Abnormality of movement	549	AUH	OMIM:250950
HP:0100022	Abnormality of movement	549	AUH	ORPHA:67046
HP:0100022	Abnormality of movement	4864	NPC1	OMIM:257220
HP:0100022	Abnormality of movement	5805	PTS	ORPHA:13
HP:0100022	Abnormality of movement	5805	PTS	OMIM:261640
HP:0100022	Abnormality of movement	51102	MECR	OMIM:617282
HP:0100022	Abnormality of movement	51102	MECR	ORPHA:508093
HP:0100022	Abnormality of movement	6390	SDHB	OMIM:619224
HP:0100022	Abnormality of movement	9757	KMT2B	OMIM:617284
HP:0100022	Abnormality of movement	8802	SUCLG1	ORPHA:17
HP:0100022	Abnormality of movement	8635	RNASET2	OMIM:612951
HP:0100022	Abnormality of movement	6697	SPR	OMIM:612716
HP:0100022	Abnormality of movement	6697	SPR	ORPHA:70594
HP:0100022	Abnormality of movement	3028	HSD17B10	ORPHA:391428
HP:0100022	Abnormality of movement	8943	AP3D1	OMIM:617050
HP:0100022	Abnormality of movement	55697	VAC14	OMIM:617054
HP:0100022	Abnormality of movement	23316	CUX2	OMIM:618141
HP:0100022	Abnormality of movement	6711	SPTBN1	OMIM:619475
HP:0100022	Abnormality of movement	4361	MRE11	ORPHA:251347
HP:0100022	Abnormality of movement	4361	MRE11	OMIM:604391
HP:0100022	Abnormality of movement	92935	MARS2	ORPHA:314603
HP:0100022	Abnormality of movement	92935	MARS2	OMIM:611390
HP:0100022	Abnormality of movement	2571	GAD1	OMIM:619124
HP:0100022	Abnormality of movement	100147744	RNU7-1	OMIM:619487
HP:0100022	Abnormality of movement	100147744	RNU7-1	ORPHA:51
HP:0100022	Abnormality of movement	7504	XK	OMIM:300842
HP:0100022	Abnormality of movement	374354	NHLRC2	OMIM:618278
HP:0100022	Abnormality of movement	2760	GM2A	ORPHA:309246
HP:0100022	Abnormality of movement	2760	GM2A	OMIM:272750
HP:0100022	Abnormality of movement	23230	VPS13A	OMIM:200150
HP:0100022	Abnormality of movement	84340	GFM2	OMIM:618397
HP:0100022	Abnormality of movement	9373	PLAA	ORPHA:521426
HP:0100022	Abnormality of movement	539	ATP5PO	OMIM:620359
HP:0100022	Abnormality of movement	498	ATP5F1A	OMIM:620358
HP:0100022	Abnormality of movement	1893	ECM1	ORPHA:530
HP:0100022	Abnormality of movement	25978	CHMP2B	OMIM:600795
HP:0100022	Abnormality of movement	23636	NUP62	ORPHA:225154
HP:0100022	Abnormality of movement	23636	NUP62	OMIM:271930
HP:0100022	Abnormality of movement	6571	SLC18A2	OMIM:618049
HP:0100022	Abnormality of movement	6571	SLC18A2	ORPHA:352649
HP:0100022	Abnormality of movement	3739	KCNA4	OMIM:618284
HP:0100022	Abnormality of movement	10479	SLC9A6	ORPHA:85278
HP:0100022	Abnormality of movement	727676	SNORD118	ORPHA:542310
HP:0100022	Abnormality of movement	727676	SNORD118	OMIM:614561
HP:0100022	Abnormality of movement	131118	DNAJC19	ORPHA:66634
HP:0100022	Abnormality of movement	256472	TMEM151A	OMIM:620245
HP:0100022	Abnormality of movement	81615	TMEM163	OMIM:620243
HP:0100022	Abnormality of movement	124454	EARS2	OMIM:614924
HP:0100022	Abnormality of movement	84153	RNASEH2C	OMIM:610329
HP:0100022	Abnormality of movement	84153	RNASEH2C	ORPHA:51
HP:0100022	Abnormality of movement	5860	QDPR	OMIM:261630
HP:0100022	Abnormality of movement	25793	FBXO7	OMIM:260300
HP:0100022	Abnormality of movement	25793	FBXO7	ORPHA:171695
HP:0100022	Abnormality of movement	87178	PNPT1	OMIM:614932
HP:0100022	Abnormality of movement	10535	RNASEH2A	OMIM:610333
HP:0100022	Abnormality of movement	10535	RNASEH2A	ORPHA:51
HP:0100022	Abnormality of movement	2747	GLUD2	OMIM:168600
HP:0100022	Abnormality of movement	126	ADH1C	OMIM:168600
HP:0100022	Abnormality of movement	6908	TBP	OMIM:168600
HP:0100022	Abnormality of movement	6908	TBP	OMIM:607136
HP:0100022	Abnormality of movement	6908	TBP	ORPHA:98759
HP:0100022	Abnormality of movement	4576	MT-TT	OMIM:168600
HP:0100022	Abnormality of movement	9627	SNCAIP	OMIM:168600
HP:0100022	Abnormality of movement	6311	ATXN2	OMIM:168600
HP:0100022	Abnormality of movement	6311	ATXN2	ORPHA:98756
HP:0100022	Abnormality of movement	6315	ATXN8OS	OMIM:168600
HP:0100022	Abnormality of movement	6315	ATXN8OS	ORPHA:98760
HP:0100022	Abnormality of movement	161742	SPRED1	ORPHA:137605
HP:0100022	Abnormality of movement	284111	SLC13A5	OMIM:615905
HP:0100022	Abnormality of movement	6342	SCP2	OMIM:613724
HP:0100022	Abnormality of movement	50640	PNPLA8	OMIM:251950
HP:0100022	Abnormality of movement	1639	DCTN1	OMIM:168605
HP:0100022	Abnormality of movement	5138	PDE2A	OMIM:619150
HP:0100022	Abnormality of movement	5138	PDE2A	ORPHA:31709
HP:0100022	Abnormality of movement	27183	VPS4A	OMIM:619273
HP:0100022	Abnormality of movement	10134	BCAP31	OMIM:300475
HP:0100022	Abnormality of movement	6535	SLC6A8	OMIM:300352
HP:0100022	Abnormality of movement	6535	SLC6A8	ORPHA:52503
HP:0100022	Abnormality of movement	26960	NBEA	OMIM:619157
HP:0100022	Abnormality of movement	1183	CLCN4	OMIM:300114
HP:0100022	Abnormality of movement	8506	CNTNAP1	OMIM:618186
HP:0100022	Abnormality of movement	55532	SLC30A10	ORPHA:309854
HP:0100022	Abnormality of movement	55532	SLC30A10	OMIM:613280
HP:0100022	Abnormality of movement	25821	MTO1	OMIM:614702
HP:0100022	Abnormality of movement	8496	PPFIBP1	OMIM:620024
HP:0100022	Abnormality of movement	773	CACNA1A	OMIM:108500
HP:0100022	Abnormality of movement	773	CACNA1A	ORPHA:97
HP:0100022	Abnormality of movement	773	CACNA1A	ORPHA:2131
HP:0100022	Abnormality of movement	773	CACNA1A	ORPHA:98758
HP:0100022	Abnormality of movement	6531	SLC6A3	ORPHA:238455
HP:0100022	Abnormality of movement	6531	SLC6A3	OMIM:613135
HP:0100022	Abnormality of movement	9442	MED27	OMIM:619286
HP:0100022	Abnormality of movement	6392	SDHD	OMIM:619167
HP:0100022	Abnormality of movement	26580	BSCL2	OMIM:615924
HP:0100022	Abnormality of movement	271	AMPD2	OMIM:615809
HP:0100022	Abnormality of movement	64601	VPS16	OMIM:619291
HP:0100022	Abnormality of movement	64207	IRF2BPL	OMIM:618088
HP:0100022	Abnormality of movement	6575	SLC20A2	OMIM:213600
HP:0100022	Abnormality of movement	5155	PDGFB	OMIM:213600
HP:0100022	Abnormality of movement	5159	PDGFRB	OMIM:213600
HP:0100022	Abnormality of movement	23732	FRRS1L	ORPHA:725
HP:0100022	Abnormality of movement	2903	GRIN2A	ORPHA:725
HP:0100022	Abnormality of movement	54675	CRLS1	OMIM:620167
HP:0100022	Abnormality of movement	5095	PCCA	OMIM:606054
HP:0100022	Abnormality of movement	5096	PCCB	OMIM:606054
HP:0100022	Abnormality of movement	10273	STUB1	OMIM:618093
HP:0100022	Abnormality of movement	7274	TTPA	ORPHA:96
HP:0100022	Abnormality of movement	7274	TTPA	OMIM:277460
HP:0100022	Abnormality of movement	10367	MICU1	ORPHA:401768
HP:0100022	Abnormality of movement	10367	MICU1	OMIM:615673
HP:0100022	Abnormality of movement	4697	NDUFA4	OMIM:619065
HP:0100022	Abnormality of movement	4697	NDUFA4	ORPHA:255241
HP:0100022	Abnormality of movement	10382	TUBB4A	OMIM:612438
HP:0100022	Abnormality of movement	79152	FA2H	OMIM:612319
HP:0100022	Abnormality of movement	57338	JPH3	ORPHA:98934
HP:0100022	Abnormality of movement	57338	JPH3	OMIM:606438
HP:0100022	Abnormality of movement	3735	KARS1	OMIM:619196
HP:0100022	Abnormality of movement	1267	CNP	OMIM:619071
HP:0100022	Abnormality of movement	1593	CYP27A1	ORPHA:909
HP:0100022	Abnormality of movement	23533	PIK3R5	ORPHA:64753
HP:0100022	Abnormality of movement	23064	SETX	ORPHA:64753
HP:0100022	Abnormality of movement	23064	SETX	OMIM:606002
HP:0100022	Abnormality of movement	6507	SLC1A3	ORPHA:2131
HP:0100022	Abnormality of movement	477	ATP1A2	ORPHA:2131
HP:0100022	Abnormality of movement	477	ATP1A2	OMIM:104290
HP:0100022	Abnormality of movement	146057	TTBK2	ORPHA:98767
HP:0100022	Abnormality of movement	1282	COL4A1	OMIM:175780
HP:0100022	Abnormality of movement	80067	DCAF17	ORPHA:3464
HP:0100022	Abnormality of movement	80067	DCAF17	OMIM:241080
HP:0100022	Abnormality of movement	11128	POLR3A	ORPHA:447896
HP:0100022	Abnormality of movement	11128	POLR3A	OMIM:607694
HP:0100022	Abnormality of movement	724066	ATXN8	ORPHA:98760
HP:0100022	Abnormality of movement	3251	HPRT1	OMIM:300322
HP:0100022	Abnormality of movement	3251	HPRT1	ORPHA:79233
HP:0100022	Abnormality of movement	8050	PDHX	OMIM:245349
HP:0100022	Abnormality of movement	64135	IFIH1	OMIM:615846
HP:0100022	Abnormality of movement	64135	IFIH1	ORPHA:51
HP:0100022	Abnormality of movement	25828	TXN2	OMIM:616811
HP:0100022	Abnormality of movement	6310	ATXN1	ORPHA:98755
HP:0100022	Abnormality of movement	85021	REPS1	OMIM:617916
HP:0100022	Abnormality of movement	84978	FRMD5	OMIM:620094
HP:0100022	Abnormality of movement	197322	ACSF3	ORPHA:289504
HP:0100022	Abnormality of movement	57017	COQ9	OMIM:614654
HP:0100022	Abnormality of movement	137492	VPS37A	OMIM:614898
HP:0100022	Abnormality of movement	339453	TMEM240	OMIM:607454
HP:0100022	Abnormality of movement	9230	RAB11B	OMIM:617807
HP:0100022	Abnormality of movement	25939	SAMHD1	ORPHA:51
HP:0100022	Abnormality of movement	79621	RNASEH2B	ORPHA:51
HP:0100022	Abnormality of movement	79621	RNASEH2B	OMIM:610181
HP:0100022	Abnormality of movement	134353	LSM11	ORPHA:51
HP:0100022	Abnormality of movement	1738	DLD	OMIM:246900
HP:0100022	Abnormality of movement	7167	TPI1	OMIM:615512
HP:0100022	Abnormality of movement	2290	FOXG1	OMIM:613454
HP:0100022	Abnormality of movement	27249	MMADHC	OMIM:277410
HP:0100022	Abnormality of movement	91147	TMEM67	OMIM:216360
HP:0100022	Abnormality of movement	55187	VPS13D	OMIM:607317
HP:0100022	Abnormality of movement	80347	COASY	OMIM:615643
HP:0100022	Abnormality of movement	57505	AARS2	OMIM:615889
HP:0100022	Abnormality of movement	55152	DALRD3	OMIM:618910
HP:0100022	Abnormality of movement	3097	HIVEP2	OMIM:616977
HP:0100022	Abnormality of movement	2592	GALT	ORPHA:79239
HP:0100022	Abnormality of movement	4358	MPV17	OMIM:256810
HP:0100022	Abnormality of movement	2058	EPRS1	OMIM:617951
HP:0100022	Abnormality of movement	79947	DHDDS	OMIM:617836
HP:0100022	Abnormality of movement	23317	DNAJC13	ORPHA:411602
HP:0100022	Abnormality of movement	1981	EIF4G1	ORPHA:411602
HP:0100022	Abnormality of movement	55737	VPS35	ORPHA:411602
HP:0100022	Abnormality of movement	26058	GIGYF2	ORPHA:411602
HP:0100022	Abnormality of movement	128989	TANGO2	ORPHA:480864
HP:0100022	Abnormality of movement	128989	TANGO2	OMIM:616878
HP:0100022	Abnormality of movement	1813	DRD2	ORPHA:36899
HP:0100022	Abnormality of movement	8910	SGCE	ORPHA:36899
HP:0100022	Abnormality of movement	23065	EMC1	OMIM:616875
HP:0100022	Abnormality of movement	54664	TMEM106B	OMIM:617964
HP:0100022	Abnormality of movement	27010	TPK1	OMIM:614458
HP:0100022	Abnormality of movement	2517	FUCA1	OMIM:230000
HP:0100022	Abnormality of movement	64857	PLEKHG2	OMIM:616763
HP:0100022	Abnormality of movement	4329	ALDH6A1	OMIM:614105
HP:0100022	Abnormality of movement	55145	THAP1	ORPHA:98806
HP:0100022	Abnormality of movement	8405	SPOP	OMIM:618829
HP:0100022	Abnormality of movement	25915	NDUFAF3	ORPHA:70474
HP:0100022	Abnormality of movement	4714	NDUFB8	ORPHA:70474
HP:0100022	Abnormality of movement	4720	NDUFS2	ORPHA:70474
HP:0100022	Abnormality of movement	4720	NDUFS2	ORPHA:255241
HP:0100022	Abnormality of movement	9997	SCO2	ORPHA:70474
HP:0100022	Abnormality of movement	55164	SHQ1	OMIM:619921
HP:0100022	Abnormality of movement	55164	SHQ1	OMIM:619922
HP:0100022	Abnormality of movement	100506658	OCLN	OMIM:251290
HP:0100022	Abnormality of movement	51	ACOX1	OMIM:264470
HP:0100022	Abnormality of movement	6389	SDHA	ORPHA:255241
HP:0100022	Abnormality of movement	6389	SDHA	OMIM:252011
HP:0100022	Abnormality of movement	91942	NDUFAF2	ORPHA:255241
HP:0100022	Abnormality of movement	4723	NDUFV1	ORPHA:255241
HP:0100022	Abnormality of movement	4729	NDUFV2	ORPHA:255241
HP:0100022	Abnormality of movement	51204	TACO1	ORPHA:255241
HP:0100022	Abnormality of movement	4724	NDUFS4	ORPHA:255241
HP:0100022	Abnormality of movement	100131801	PET100	ORPHA:255241
HP:0100022	Abnormality of movement	1355	COX15	ORPHA:255241
HP:0100022	Abnormality of movement	123263	MTFMT	ORPHA:255241
HP:0100022	Abnormality of movement	51079	NDUFA13	ORPHA:255241
HP:0100022	Abnormality of movement	4705	NDUFA10	ORPHA:255241
HP:0100022	Abnormality of movement	4695	NDUFA2	ORPHA:255241
HP:0100022	Abnormality of movement	9179	AP4M1	ORPHA:280763
HP:0100022	Abnormality of movement	11154	AP4S1	ORPHA:280763
HP:0100022	Abnormality of movement	10577	NPC2	OMIM:607625
HP:0100022	Abnormality of movement	54802	TRIT1	OMIM:617873
HP:0100022	Abnormality of movement	51294	PCDH12	OMIM:251280
HP:0100022	Abnormality of movement	9439	MED23	OMIM:614249
HP:0100022	Abnormality of movement	8481	OFD1	ORPHA:2750
HP:0100022	Abnormality of movement	3778	KCNMA1	OMIM:618729
HP:0100022	Abnormality of movement	51733	UPB1	OMIM:613161
HP:0100022	Abnormality of movement	55331	ACER3	OMIM:617762
HP:0100022	Abnormality of movement	79587	CARS2	OMIM:616672
HP:0100022	Abnormality of movement	35	ACADS	ORPHA:26792
HP:0100022	Abnormality of movement	80169	CTC1	OMIM:612199
HP:0100022	Abnormality of movement	5297	PI4KA	OMIM:619708
HP:0100022	Abnormality of movement	3730	ANOS1	OMIM:308700
HP:0100022	Abnormality of movement	3730	ANOS1	ORPHA:478
HP:0100022	Abnormality of movement	392255	GDF6	OMIM:118100
HP:0100022	Abnormality of movement	128674	PROKR2	OMIM:244200
HP:0100022	Abnormality of movement	128674	PROKR2	ORPHA:478
HP:0100022	Abnormality of movement	22995	CEP152	OMIM:614852
HP:0100022	Abnormality of movement	10371	SEMA3A	OMIM:614897
HP:0100022	Abnormality of movement	10371	SEMA3A	ORPHA:478
HP:0100022	Abnormality of movement	374969	SVBP	OMIM:618569
HP:0100022	Abnormality of movement	57082	KNL1	OMIM:604321
HP:0100022	Abnormality of movement	81848	SPRY4	ORPHA:478
HP:0100022	Abnormality of movement	23767	FLRT3	ORPHA:478
HP:0100022	Abnormality of movement	79625	NDNF	ORPHA:478
HP:0100022	Abnormality of movement	389549	FEZF1	ORPHA:478
HP:0100022	Abnormality of movement	54756	IL17RD	ORPHA:478
HP:0100022	Abnormality of movement	6663	SOX10	ORPHA:478
HP:0100022	Abnormality of movement	285025	CCDC141	ORPHA:478
HP:0100022	Abnormality of movement	60675	PROK2	ORPHA:478
HP:0100022	Abnormality of movement	60675	PROK2	OMIM:610628
HP:0100022	Abnormality of movement	55636	CHD7	ORPHA:478
HP:0100022	Abnormality of movement	1848	DUSP6	ORPHA:478
HP:0100022	Abnormality of movement	6870	TACR3	ORPHA:478
HP:0100022	Abnormality of movement	55717	WDR11	ORPHA:478
HP:0100022	Abnormality of movement	9394	HS6ST1	ORPHA:478
HP:0100022	Abnormality of movement	8820	HESX1	ORPHA:478
HP:0100022	Abnormality of movement	8822	FGF17	ORPHA:478
HP:0100022	Abnormality of movement	1000	CDH2	OMIM:618929
HP:0100022	Abnormality of movement	10430	TMEM147	OMIM:620075
HP:0100022	Abnormality of movement	25792	CIZ1	ORPHA:420492
HP:0100022	Abnormality of movement	5274	SERPINI1	OMIM:604218
HP:0100022	Abnormality of movement	10617	STAMBP	OMIM:614261
HP:0100022	Abnormality of movement	6309	SC5D	ORPHA:46059
HP:0100022	Abnormality of movement	785	CACNB4	OMIM:613855
HP:0100022	Abnormality of movement	785	CACNB4	OMIM:607682
HP:0100022	Abnormality of movement	132158	GLYCTK	ORPHA:941
HP:0100022	Abnormality of movement	132158	GLYCTK	OMIM:220120
HP:0100022	Abnormality of movement	2731	GLDC	OMIM:605899
HP:0100022	Abnormality of movement	275	AMT	OMIM:605899
HP:0100022	Abnormality of movement	54982	CLN6	OMIM:204300
HP:0100022	Abnormality of movement	10501	SEMA6B	OMIM:618876
HP:0100022	Abnormality of movement	55163	PNPO	ORPHA:79096
HP:0100022	Abnormality of movement	55163	PNPO	OMIM:610090
HP:0100022	Abnormality of movement	1476	CSTB	OMIM:254800
HP:0100022	Abnormality of movement	1476	CSTB	ORPHA:308
HP:0100022	Abnormality of movement	2475	MTOR	ORPHA:99802
HP:0100022	Abnormality of movement	10000	AKT3	ORPHA:99802
HP:0100022	Abnormality of movement	4884	NPTX1	OMIM:620158
HP:0100022	Abnormality of movement	63982	ANO3	ORPHA:420485
HP:0100022	Abnormality of movement	79693	YRDC	OMIM:619609
HP:0100022	Abnormality of movement	7259	TSPYL1	ORPHA:168593
HP:0100022	Abnormality of movement	84992	PIGY	ORPHA:247262
HP:0100022	Abnormality of movement	84720	PIGO	ORPHA:247262
HP:0100022	Abnormality of movement	284098	PIGW	ORPHA:247262
HP:0100022	Abnormality of movement	9487	PIGL	ORPHA:247262
HP:0100022	Abnormality of movement	535	ATP6V0A1	OMIM:619971
HP:0100022	Abnormality of movement	3899	AFF3	OMIM:619297
HP:0100022	Abnormality of movement	55037	PTCD3	OMIM:619057
HP:0100022	Abnormality of movement	1327	COX4I1	OMIM:619060
HP:0100022	Abnormality of movement	10715	CERS1	OMIM:616230
HP:0100022	Abnormality of movement	5602	MAPK10	ORPHA:2382
HP:0100022	Abnormality of movement	4565	MT-TI	OMIM:545000
HP:0100022	Abnormality of movement	388962	BOLA3	OMIM:614299
HP:0100022	Abnormality of movement	1201	CLN3	OMIM:204200
HP:0100022	Abnormality of movement	84342	COG8	ORPHA:95428
HP:0100022	Abnormality of movement	950	SCARB2	OMIM:254900
HP:0100022	Abnormality of movement	950	SCARB2	ORPHA:308
HP:0100022	Abnormality of movement	84138	SLC7A6OS	OMIM:619191
HP:0100022	Abnormality of movement	8021	NUP214	OMIM:618426
HP:0100022	Abnormality of movement	221692	PHACTR1	ORPHA:3451
HP:0100022	Abnormality of movement	23236	PLCB1	ORPHA:3451
HP:0100022	Abnormality of movement	6709	SPTAN1	ORPHA:3451
HP:0100022	Abnormality of movement	60558	GUF1	ORPHA:3451
HP:0100022	Abnormality of movement	60558	GUF1	OMIM:617065
HP:0100022	Abnormality of movement	3662	IRF4	ORPHA:3452
HP:0100022	Abnormality of movement	55275	VPS53	OMIM:615851
HP:0100022	Abnormality of movement	5664	PSEN2	ORPHA:1020
HP:0100022	Abnormality of movement	10452	TOMM40	ORPHA:1020
HP:0100022	Abnormality of movement	351	APP	ORPHA:1020
HP:0100022	Abnormality of movement	351	APP	ORPHA:324708
HP:0100022	Abnormality of movement	10347	ABCA7	ORPHA:1020
HP:0100022	Abnormality of movement	6653	SORL1	ORPHA:1020
HP:0100022	Abnormality of movement	3752	KCND3	OMIM:607346
HP:0100022	Abnormality of movement	114327	EFHC1	ORPHA:1941
HP:0100022	Abnormality of movement	27247	NFU1	OMIM:605711
HP:0100022	Abnormality of movement	80331	DNAJC5	OMIM:162350
HP:0100022	Abnormality of movement	3980	LIG3	OMIM:619780
HP:0100022	Abnormality of movement	4512	MT-CO1	ORPHA:550
HP:0100022	Abnormality of movement	4513	MT-CO2	ORPHA:550
HP:0100022	Abnormality of movement	29968	PSAT1	OMIM:610992
HP:0100022	Abnormality of movement	29968	PSAT1	ORPHA:284417
HP:0100022	Abnormality of movement	91869	RFT1	OMIM:612015
HP:0100022	Abnormality of movement	3192	HNRNPU	OMIM:617391
HP:0100022	Abnormality of movement	3119	HLA-DQB1	OMIM:123400
HP:0100022	Abnormality of movement	23258	DENND5A	OMIM:617281
HP:0100022	Abnormality of movement	51300	TIMMDC1	OMIM:618251
HP:0100022	Abnormality of movement	11212	PLPBP	OMIM:617290
HP:0100022	Abnormality of movement	11019	LIAS	OMIM:614462
HP:0100022	Abnormality of movement	56978	PRDM8	OMIM:616640
HP:0100022	Abnormality of movement	56978	PRDM8	ORPHA:324290
HP:0100022	Abnormality of movement	2554	GABRA1	ORPHA:33069
HP:0100022	Abnormality of movement	57526	PCDH19	ORPHA:33069
HP:0100022	Abnormality of movement	526	ATP6V1B2	ORPHA:79500
HP:0100022	Abnormality of movement	151	ADRA2B	ORPHA:86814
HP:0100022	Abnormality of movement	1501	CTNND2	ORPHA:86814
HP:0100022	Abnormality of movement	55704	CCDC88A	OMIM:617507
HP:0100022	Abnormality of movement	60386	SLC25A19	OMIM:607196
HP:0100022	Abnormality of movement	84823	LMNB2	OMIM:616540
HP:0100022	Abnormality of movement	5538	PPT1	OMIM:256730
HP:0100022	Abnormality of movement	4668	NAGA	OMIM:609241
HP:0100022	Abnormality of movement	4668	NAGA	ORPHA:79279
HP:0100022	Abnormality of movement	55005	RMND1	OMIM:614922
HP:0100022	Abnormality of movement	9907	AP5Z1	ORPHA:306511
HP:0100022	Abnormality of movement	8996	NOL3	OMIM:614937
HP:0100022	Abnormality of movement	401474	SAMD12	OMIM:601068
HP:0100022	Abnormality of movement	8450	CUL4B	OMIM:300354
HP:0100022	Abnormality of movement	8450	CUL4B	ORPHA:85293
HP:0100022	Abnormality of movement	51816	ADA2	ORPHA:820
HP:0100022	Abnormality of movement	51816	ADA2	OMIM:182410
HP:0100022	Abnormality of movement	1161	ERCC8	ORPHA:90321
HP:0100022	Abnormality of movement	1161	ERCC8	OMIM:216400
HP:0100022	Abnormality of movement	2072	ERCC4	ORPHA:90321
HP:0100022	Abnormality of movement	2072	ERCC4	OMIM:278760
HP:0100022	Abnormality of movement	64324	NSD1	ORPHA:821
HP:0100022	Abnormality of movement	29072	SETD2	ORPHA:821
HP:0100022	Abnormality of movement	10297	APC2	ORPHA:821
HP:0100022	Abnormality of movement	23322	RPGRIP1L	ORPHA:220497
HP:0100022	Abnormality of movement	23322	RPGRIP1L	ORPHA:1454
HP:0100022	Abnormality of movement	4867	NPHP1	ORPHA:220497
HP:0100022	Abnormality of movement	65062	TMEM237	ORPHA:220497
HP:0100022	Abnormality of movement	65062	TMEM237	ORPHA:475
HP:0100022	Abnormality of movement	101060691	NUTM2B-AS1	OMIM:618637
HP:0100022	Abnormality of movement	55689	YEATS2	OMIM:615127
HP:0100022	Abnormality of movement	54806	AHI1	ORPHA:220493
HP:0100022	Abnormality of movement	54806	AHI1	ORPHA:475
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:220493
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:475
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:1454
HP:0100022	Abnormality of movement	153241	CEP120	ORPHA:220493
HP:0100022	Abnormality of movement	153241	CEP120	ORPHA:475
HP:0100022	Abnormality of movement	95681	CEP41	ORPHA:220493
HP:0100022	Abnormality of movement	95681	CEP41	ORPHA:475
HP:0100022	Abnormality of movement	23600	AMACR	ORPHA:79095
HP:0100022	Abnormality of movement	23600	AMACR	OMIM:614307
HP:0100022	Abnormality of movement	60482	SLC5A7	OMIM:158580
HP:0100022	Abnormality of movement	1600	DAB1	ORPHA:363710
HP:0100022	Abnormality of movement	1600	DAB1	OMIM:615945
HP:0100022	Abnormality of movement	9692	PRORP	OMIM:619737
HP:0100022	Abnormality of movement	7428	VHL	ORPHA:276621
HP:0100022	Abnormality of movement	7428	VHL	ORPHA:29072
HP:0100022	Abnormality of movement	5979	RET	ORPHA:276621
HP:0100022	Abnormality of movement	5979	RET	ORPHA:29072
HP:0100022	Abnormality of movement	1788	DNMT3A	ORPHA:276621
HP:0100022	Abnormality of movement	2034	EPAS1	ORPHA:276621
HP:0100022	Abnormality of movement	29967	LRP12	OMIM:164310
HP:0100022	Abnormality of movement	7276	TTR	OMIM:105210
HP:0100022	Abnormality of movement	7466	WFS1	OMIM:222300
HP:0100022	Abnormality of movement	54968	TMEM70	OMIM:614052
HP:0100022	Abnormality of movement	23203	PMPCA	ORPHA:1170
HP:0100022	Abnormality of movement	23203	PMPCA	OMIM:213200
HP:0100022	Abnormality of movement	5230	PGK1	ORPHA:713
HP:0100022	Abnormality of movement	6335	SCN9A	ORPHA:36387
HP:0100022	Abnormality of movement	112755	STX1B	ORPHA:36387
HP:0100022	Abnormality of movement	2563	GABRD	ORPHA:36387
HP:0100022	Abnormality of movement	84059	ADGRV1	ORPHA:36387
HP:0100022	Abnormality of movement	5373	PMM2	OMIM:212065
HP:0100022	Abnormality of movement	79600	TCTN1	ORPHA:475
HP:0100022	Abnormality of movement	79848	CSPP1	ORPHA:475
HP:0100022	Abnormality of movement	51684	SUFU	ORPHA:475
HP:0100022	Abnormality of movement	200894	ARL13B	ORPHA:475
HP:0100022	Abnormality of movement	9731	CEP104	ORPHA:475
HP:0100022	Abnormality of movement	219844	HYLS1	ORPHA:475
HP:0100022	Abnormality of movement	23247	KATNIP	ORPHA:475
HP:0100022	Abnormality of movement	219854	TMEM218	ORPHA:475
HP:0100022	Abnormality of movement	9786	KIAA0586	ORPHA:475
HP:0100022	Abnormality of movement	79867	TCTN2	ORPHA:475
HP:0100022	Abnormality of movement	80776	B9D2	ORPHA:475
HP:0100022	Abnormality of movement	10464	PIBF1	ORPHA:475
HP:0100022	Abnormality of movement	80210	ARMC9	ORPHA:475
HP:0100022	Abnormality of movement	23116	TOGARAM1	ORPHA:475
HP:0100022	Abnormality of movement	25776	CBY1	ORPHA:475
HP:0100022	Abnormality of movement	27077	B9D1	ORPHA:475
HP:0100022	Abnormality of movement	403	ARL3	ORPHA:475
HP:0100022	Abnormality of movement	1743	DLST	ORPHA:29072
HP:0100022	Abnormality of movement	23095	KIF1B	ORPHA:29072
HP:0100022	Abnormality of movement	2271	FH	ORPHA:29072
HP:0100022	Abnormality of movement	8402	SLC25A11	ORPHA:29072
HP:0100022	Abnormality of movement	54949	SDHAF2	ORPHA:29072
HP:0100022	Abnormality of movement	55654	TMEM127	ORPHA:29072
HP:0100022	Abnormality of movement	4763	NF1	ORPHA:29072
HP:0100022	Abnormality of movement	6391	SDHC	ORPHA:29072
HP:0100022	Abnormality of movement	4149	MAX	ORPHA:29072
HP:0100022	Abnormality of movement	2073	ERCC5	OMIM:278780
HP:0100022	Abnormality of movement	60481	ELOVL5	OMIM:615957
HP:0100022	Abnormality of movement	60481	ELOVL5	ORPHA:423296
HP:0100022	Abnormality of movement	100134444	KCNJ18	ORPHA:79102
HP:0100022	Abnormality of movement	100134444	KCNJ18	OMIM:613239
HP:0100022	Abnormality of movement	2556	GABRA3	ORPHA:79102
HP:0100022	Abnormality of movement	779	CACNA1S	ORPHA:79102
HP:0100022	Abnormality of movement	5582	PRKCG	ORPHA:98763
HP:0100022	Abnormality of movement	166785	MMAA	OMIM:251100
HP:0100022	Abnormality of movement	9533	POLR1C	OMIM:616494
HP:0100022	Abnormality of movement	5205	ATP8B1	ORPHA:69665
HP:0100022	Abnormality of movement	8647	ABCB11	ORPHA:69665
HP:0100022	Abnormality of movement	5244	ABCB4	ORPHA:69665
HP:0100022	Abnormality of movement	9971	NR1H4	ORPHA:69665
HP:0100022	Abnormality of movement	146227	BEAN1	ORPHA:217012
HP:0100022	Abnormality of movement	4677	NARS1	OMIM:619092
HP:0100022	Abnormality of movement	9147	NEMF	OMIM:619099
HP:0100022	Abnormality of movement	2678	GGT1	OMIM:231950
HP:0100022	Abnormality of movement	10165	SLC25A13	ORPHA:247585
HP:0100022	Abnormality of movement	1384	CRAT	OMIM:617917
HP:0100022	Abnormality of movement	1173	AP2M1	ORPHA:1942
HP:0100022	Abnormality of movement	1173	AP2M1	OMIM:618587
HP:0100022	Abnormality of movement	340533	NEXMIF	ORPHA:1942
HP:0100022	Abnormality of movement	1106	CHD2	ORPHA:1942
HP:0100022	Abnormality of movement	4633	MYL2	OMIM:619424
HP:0100022	Abnormality of movement	2702	GJA5	OMIM:612474
HP:0100022	Abnormality of movement	2703	GJA8	OMIM:612474
HP:0100022	Abnormality of movement	9445	ITM2B	OMIM:176500
HP:0100022	Abnormality of movement	57410	SCYL1	OMIM:616719
HP:0100022	Abnormality of movement	11232	POLG2	ORPHA:254892
HP:0100022	Abnormality of movement	353116	RILPL1	OMIM:619790
HP:0100022	Abnormality of movement	54517	PUS7	OMIM:618342
HP:0100022	Abnormality of movement	440193	CCDC88C	OMIM:616053
HP:0100022	Abnormality of movement	6900	CNTN2	OMIM:615400
HP:0100022	Abnormality of movement	11093	ADAMTS13	OMIM:274150
HP:0100022	Abnormality of movement	5053	PAH	ORPHA:79254
HP:0100022	Abnormality of movement	1491	CTH	ORPHA:212
HP:0100022	Abnormality of movement	51132	RLIM	OMIM:300978
HP:0100022	Abnormality of movement	3746	KCNC1	OMIM:616187
HP:0100022	Abnormality of movement	6898	TAT	ORPHA:28378
HP:0100022	Abnormality of movement	3172	HNF4A	ORPHA:263455
HP:0100022	Abnormality of movement	8091	HMGA2	ORPHA:94063
HP:0100022	Abnormality of movement	23592	LEMD3	ORPHA:94063
HP:0100022	Abnormality of movement	55630	SLC39A4	OMIM:201100
HP:0100022	Abnormality of movement	9758	FRMPD4	OMIM:300983
HP:0100022	Abnormality of movement	64072	CDH23	ORPHA:91347
HP:0100022	Abnormality of movement	57545	CC2D2A	ORPHA:1454
HP:0100022	Abnormality of movement	57187	THOC2	ORPHA:457240
HP:0100022	Abnormality of movement	57187	THOC2	OMIM:300957
HP:0100022	Abnormality of movement	7138	TNNT1	OMIM:605355
HP:0100022	Abnormality of movement	7138	TNNT1	ORPHA:98902
HP:0100022	Abnormality of movement	54658	UGT1A1	ORPHA:79234
HP:0100022	Abnormality of movement	84065	TMEM222	OMIM:619470
HP:0100022	Abnormality of movement	65260	COA7	OMIM:618387
HP:0100022	Abnormality of movement	4221	MEN1	ORPHA:97279
HP:0100022	Abnormality of movement	56910	STARD7	OMIM:607876
HP:0100022	Abnormality of movement	7204	TRIO	OMIM:617061
HP:0100022	Abnormality of movement	7204	TRIO	ORPHA:476126
HP:0100022	Abnormality of movement	128240	NAXE	OMIM:617186
HP:0100022	Abnormality of movement	4841	NONO	OMIM:300967
HP:0100022	Abnormality of movement	6182	MRPL12	OMIM:618951
HP:0100022	Abnormality of movement	4780	NFE2L2	OMIM:617744
HP:0100022	Abnormality of movement	1650	DDOST	ORPHA:300536
HP:0100022	Abnormality of movement	1493	CTLA4	ORPHA:3162
HP:0100022	Abnormality of movement	940	CD28	ORPHA:3162
HP:0100022	Abnormality of movement	7133	TNFRSF1B	ORPHA:3162
HP:0100022	Abnormality of movement	119559	SFXN4	OMIM:615578
HP:0100022	Abnormality of movement	55074	OXR1	OMIM:213000
HP:0100022	Abnormality of movement	10210	TOPORS	ORPHA:2754
HP:0100022	Abnormality of movement	9851	KIAA0753	ORPHA:2754
HP:0100022	Abnormality of movement	26123	TCTN3	ORPHA:2754
HP:0100022	Abnormality of movement	5147	PDE6D	ORPHA:2754
HP:0100022	Abnormality of movement	51259	TMEM216	ORPHA:2754
HP:0100022	Abnormality of movement	317662	FAM149B1	ORPHA:2754
HP:0100022	Abnormality of movement	374654	KIF7	ORPHA:2754
HP:0100022	Abnormality of movement	84274	COQ5	OMIM:619028
HP:0100022	Abnormality of movement	9570	GOSR2	OMIM:614018
HP:0100022	Abnormality of movement	3145	HMBS	ORPHA:79276
HP:0100022	Abnormality of movement	10299	MARCHF6	OMIM:613608
HP:0100022	Abnormality of movement	25974	MMACHC	OMIM:277400
HP:0100022	Abnormality of movement	5052	PRDX1	OMIM:277400
HP:0100022	Abnormality of movement	4750	NEK1	OMIM:617892
HP:0100022	Abnormality of movement	7360	UGP2	OMIM:618744
HP:0100022	Abnormality of movement	10300	KATNB1	OMIM:616212
HP:0100022	Abnormality of movement	122961	ISCA2	OMIM:616370
HP:0100022	Abnormality of movement	2729	GCLC	ORPHA:33574
HP:0100022	Abnormality of movement	3763	KCNJ6	OMIM:614098
HP:0100022	Abnormality of movement	3763	KCNJ6	ORPHA:435628
HP:0100022	Abnormality of movement	22930	RAB3GAP1	OMIM:619420
HP:0100022	Abnormality of movement	22930	RAB3GAP1	OMIM:600118
HP:0100022	Abnormality of movement	7187	TRAF3	ORPHA:1930
HP:0100022	Abnormality of movement	81622	UNC93B1	ORPHA:1930
HP:0100022	Abnormality of movement	148022	TICAM1	ORPHA:1930
HP:0100022	Abnormality of movement	7098	TLR3	ORPHA:1930
HP:0100022	Abnormality of movement	92840	REEP6	ORPHA:791
HP:0100022	Abnormality of movement	6094	ROM1	ORPHA:791
HP:0100022	Abnormality of movement	6017	RLBP1	ORPHA:791
HP:0100022	Abnormality of movement	7401	CLRN1	ORPHA:791
HP:0100022	Abnormality of movement	24	ABCA4	ORPHA:791
HP:0100022	Abnormality of movement	130557	ZNF513	ORPHA:791
HP:0100022	Abnormality of movement	92211	CDHR1	ORPHA:791
HP:0100022	Abnormality of movement	23568	ARL2BP	ORPHA:791
HP:0100022	Abnormality of movement	6101	RP1	ORPHA:791
HP:0100022	Abnormality of movement	3419	IDH3A	ORPHA:791
HP:0100022	Abnormality of movement	4751	NEK2	ORPHA:791
HP:0100022	Abnormality of movement	346007	EYS	ORPHA:791
HP:0100022	Abnormality of movement	8100	IFT88	ORPHA:791
HP:0100022	Abnormality of movement	23020	SNRNP200	ORPHA:791
HP:0100022	Abnormality of movement	762	CA4	ORPHA:791
HP:0100022	Abnormality of movement	138050	HGSNAT	ORPHA:791
HP:0100022	Abnormality of movement	196	AHR	ORPHA:791
HP:0100022	Abnormality of movement	3614	IMPDH1	ORPHA:791
HP:0100022	Abnormality of movement	123016	TTC8	ORPHA:791
HP:0100022	Abnormality of movement	6103	RPGR	ORPHA:791
HP:0100022	Abnormality of movement	1406	CRX	ORPHA:791
HP:0100022	Abnormality of movement	5148	PDE6G	ORPHA:791
HP:0100022	Abnormality of movement	26160	IFT172	ORPHA:791
HP:0100022	Abnormality of movement	26121	PRPF31	ORPHA:791
HP:0100022	Abnormality of movement	583	BBS2	ORPHA:791
HP:0100022	Abnormality of movement	4117	MAK	ORPHA:791
HP:0100022	Abnormality of movement	25794	FSCN2	ORPHA:791
HP:0100022	Abnormality of movement	375298	CERKL	ORPHA:791
HP:0100022	Abnormality of movement	3420	IDH3B	ORPHA:791
HP:0100022	Abnormality of movement	57670	KIAA1549	ORPHA:791
HP:0100022	Abnormality of movement	7275	TUB	ORPHA:791
HP:0100022	Abnormality of movement	24148	PRPF6	ORPHA:791
HP:0100022	Abnormality of movement	23418	CRB1	ORPHA:791
HP:0100022	Abnormality of movement	10461	MERTK	ORPHA:791
HP:0100022	Abnormality of movement	57709	SLC7A14	ORPHA:791
HP:0100022	Abnormality of movement	768206	PRCD	ORPHA:791
HP:0100022	Abnormality of movement	7399	USH2A	ORPHA:791
HP:0100022	Abnormality of movement	23370	ARHGEF18	ORPHA:791
HP:0100022	Abnormality of movement	5949	RBP3	ORPHA:791
HP:0100022	Abnormality of movement	6010	RHO	ORPHA:791
HP:0100022	Abnormality of movement	6100	RP9	ORPHA:791
HP:0100022	Abnormality of movement	10002	NR2E3	ORPHA:791
HP:0100022	Abnormality of movement	84140	FAM161A	ORPHA:791
HP:0100022	Abnormality of movement	79797	ZNF408	ORPHA:791
HP:0100022	Abnormality of movement	5145	PDE6A	ORPHA:791
HP:0100022	Abnormality of movement	8842	PROM1	ORPHA:791
HP:0100022	Abnormality of movement	9128	PRPF4	ORPHA:791
HP:0100022	Abnormality of movement	145226	RDH12	ORPHA:791
HP:0100022	Abnormality of movement	50939	IMPG2	ORPHA:791
HP:0100022	Abnormality of movement	49855	SCAPER	ORPHA:791
HP:0100022	Abnormality of movement	9742	IFT140	ORPHA:791
HP:0100022	Abnormality of movement	2979	GUCA1B	ORPHA:791
HP:0100022	Abnormality of movement	1259	CNGA1	ORPHA:791
HP:0100022	Abnormality of movement	1258	CNGB1	ORPHA:791
HP:0100022	Abnormality of movement	60509	AGBL5	ORPHA:791
HP:0100022	Abnormality of movement	5961	PRPH2	ORPHA:791
HP:0100022	Abnormality of movement	388939	PCARE	ORPHA:791
HP:0100022	Abnormality of movement	7439	BEST1	ORPHA:791
HP:0100022	Abnormality of movement	9785	DHX38	ORPHA:791
HP:0100022	Abnormality of movement	7287	TULP1	ORPHA:791
HP:0100022	Abnormality of movement	5995	RGR	ORPHA:791
HP:0100022	Abnormality of movement	9129	PRPF3	ORPHA:791
HP:0100022	Abnormality of movement	55975	KLHL7	ORPHA:791
HP:0100022	Abnormality of movement	3617	IMPG1	ORPHA:791
HP:0100022	Abnormality of movement	94137	RP1L1	ORPHA:791
HP:0100022	Abnormality of movement	5158	PDE6B	ORPHA:791
HP:0100022	Abnormality of movement	6102	RP2	ORPHA:791
HP:0100022	Abnormality of movement	55857	KIZ	ORPHA:791
HP:0100022	Abnormality of movement	4901	NRL	ORPHA:791
HP:0100022	Abnormality of movement	157657	CFAP418	ORPHA:791
HP:0100022	Abnormality of movement	10594	PRPF8	ORPHA:791
HP:0100022	Abnormality of movement	6295	SAG	ORPHA:791
HP:0100022	Abnormality of movement	55182	RNF220	OMIM:619688
HP:0100022	Abnormality of movement	10978	CLP1	ORPHA:411493
HP:0100022	Abnormality of movement	10978	CLP1	OMIM:615803
HP:0100022	Abnormality of movement	6045	RNF2	OMIM:619460
HP:0100022	Abnormality of movement	9496	TBX4	ORPHA:261279
HP:0100022	Abnormality of movement	29926	GMPPA	ORPHA:869
HP:0100022	Abnormality of movement	29926	GMPPA	OMIM:615510
HP:0100022	Abnormality of movement	57038	RARS2	OMIM:611523
HP:0100022	Abnormality of movement	10084	PQBP1	OMIM:309500
HP:0100022	Abnormality of movement	55315	SLC29A3	ORPHA:168569
HP:0100022	Abnormality of movement	27445	PCLO	OMIM:608027
HP:0100022	Abnormality of movement	11113	CIT	OMIM:617090
HP:0100022	Abnormality of movement	11113	CIT	ORPHA:2512
HP:0100022	Abnormality of movement	83700	JAM3	OMIM:613730
HP:0100022	Abnormality of movement	25839	COG4	ORPHA:263501
HP:0100022	Abnormality of movement	25839	COG4	OMIM:613489
HP:0100022	Abnormality of movement	340024	SLC6A19	OMIM:234500
HP:0100022	Abnormality of movement	340024	SLC6A19	ORPHA:2116
HP:0100022	Abnormality of movement	672	BRCA1	ORPHA:84
HP:0100022	Abnormality of movement	10459	MAD2L2	ORPHA:84
HP:0100022	Abnormality of movement	7516	XRCC2	ORPHA:84
HP:0100022	Abnormality of movement	29089	UBE2T	ORPHA:84
HP:0100022	Abnormality of movement	675	BRCA2	ORPHA:84
HP:0100022	Abnormality of movement	55120	FANCL	ORPHA:84
HP:0100022	Abnormality of movement	2177	FANCD2	ORPHA:84
HP:0100022	Abnormality of movement	2175	FANCA	ORPHA:84
HP:0100022	Abnormality of movement	2187	FANCB	ORPHA:84
HP:0100022	Abnormality of movement	2176	FANCC	ORPHA:84
HP:0100022	Abnormality of movement	2178	FANCE	ORPHA:84
HP:0100022	Abnormality of movement	2188	FANCF	ORPHA:84
HP:0100022	Abnormality of movement	2189	FANCG	ORPHA:84
HP:0100022	Abnormality of movement	5889	RAD51C	ORPHA:84
HP:0100022	Abnormality of movement	55159	RFWD3	ORPHA:84
HP:0100022	Abnormality of movement	83990	BRIP1	ORPHA:84
HP:0100022	Abnormality of movement	57697	FANCM	ORPHA:84
HP:0100022	Abnormality of movement	79728	PALB2	ORPHA:84
HP:0100022	Abnormality of movement	84464	SLX4	ORPHA:84
HP:0100022	Abnormality of movement	55215	FANCI	ORPHA:84
HP:0100022	Abnormality of movement	149371	EXOC8	OMIM:619076
HP:0100022	Abnormality of movement	6558	SLC12A2	OMIM:619080
HP:0100022	Abnormality of movement	57393	CLTRN	ORPHA:2116
HP:0100022	Abnormality of movement	2776	GNAQ	ORPHA:3205
HP:0100022	Abnormality of movement	10075	HUWE1	OMIM:309590
HP:0100022	Abnormality of movement	5859	QARS1	OMIM:615760
HP:0100022	Abnormality of movement	2138	EYA1	ORPHA:2792
HP:0100022	Abnormality of movement	5075	PAX1	ORPHA:2792
HP:0100022	Abnormality of movement	81689	ISCA1	OMIM:617613
HP:0100022	Abnormality of movement	617	BCS1L	OMIM:124000
HP:0100022	Abnormality of movement	9928	KIF14	ORPHA:2512
HP:0100022	Abnormality of movement	55262	TRAPPC14	ORPHA:2512
HP:0100022	Abnormality of movement	163786	SASS6	ORPHA:2512
HP:0100022	Abnormality of movement	4176	MCM7	ORPHA:2512
HP:0100022	Abnormality of movement	80254	CEP63	ORPHA:2512
HP:0100022	Abnormality of movement	29081	METTL5	ORPHA:2512
HP:0100022	Abnormality of movement	23310	NCAPD3	ORPHA:2512
HP:0100022	Abnormality of movement	55755	CDK5RAP2	ORPHA:2512
HP:0100022	Abnormality of movement	79648	MCPH1	ORPHA:2512
HP:0100022	Abnormality of movement	259266	ASPM	ORPHA:2512
HP:0100022	Abnormality of movement	1911	PHC1	ORPHA:2512
HP:0100022	Abnormality of movement	6884	TAF13	ORPHA:2512
HP:0100022	Abnormality of movement	9662	CEP135	ORPHA:2512
HP:0100022	Abnormality of movement	55835	CENPJ	ORPHA:2512
HP:0100022	Abnormality of movement	1021	CDK6	ORPHA:2512
HP:0100022	Abnormality of movement	2182	ACSL4	OMIM:300387
HP:0100022	Abnormality of movement	18	ABAT	OMIM:613163
HP:0100022	Abnormality of movement	10466	COG5	ORPHA:263487
HP:0100022	Abnormality of movement	10785	WDR4	OMIM:618346
HP:0100022	Abnormality of movement	4570	MT-TN	OMIM:220110
HP:0100022	Abnormality of movement	4570	MT-TN	ORPHA:663
HP:0100022	Abnormality of movement	4568	MT-TL2	ORPHA:663
HP:0100022	Abnormality of movement	1352	COX10	OMIM:619046
HP:0100022	Abnormality of movement	284403	WDR62	OMIM:604317
HP:0100022	Abnormality of movement	4784	NFIX	OMIM:602535
HP:0100022	Abnormality of movement	2660	MSTN	OMIM:614160
HP:0100022	Abnormality of movement	9377	COX5A	OMIM:619064
HP:0100022	Abnormality of movement	5063	PAK3	OMIM:300558
HP:0100022	Abnormality of movement	91461	PKDCC	OMIM:618821
HP:0100022	Abnormality of movement	23137	SMC5	OMIM:620185
HP:0100022	Abnormality of movement	51124	IER3IP1	OMIM:614231
HP:0100022	Abnormality of movement	57479	PRR12	OMIM:619539
HP:0100022	Abnormality of movement	587	BCAT2	OMIM:618850
HP:0100022	Abnormality of movement	10844	TUBGCP2	OMIM:618737
HP:0100022	Abnormality of movement	324	APC	ORPHA:261584
HP:0100022	Abnormality of movement	10166	SLC25A15	ORPHA:415
HP:0100022	Abnormality of movement	10166	SLC25A15	OMIM:238970
HP:0100022	Abnormality of movement	57599	WDR48	ORPHA:401800
HP:0100022	Abnormality of movement	57498	KIDINS220	OMIM:617296
HP:0100022	Abnormality of movement	79971	WLS	OMIM:619648
HP:0100022	Abnormality of movement	383	ARG1	OMIM:207800
HP:0100022	Abnormality of movement	23646	PLD3	OMIM:617770
HP:0100022	Abnormality of movement	51126	NAA20	OMIM:619717
HP:0100022	Abnormality of movement	283489	CHAMP1	OMIM:616579
HP:0100022	Abnormality of movement	8309	ACOX2	OMIM:617308
HP:0100022	Abnormality of movement	55780	ERMARD	ORPHA:75857
HP:0100022	Abnormality of movement	57492	ARID1B	OMIM:135900
HP:0100022	Abnormality of movement	7222	TRPC3	ORPHA:458798
HP:0100022	Abnormality of movement	7222	TRPC3	OMIM:616410
HP:0100022	Abnormality of movement	6925	TCF4	OMIM:610954
HP:0100022	Abnormality of movement	6925	TCF4	ORPHA:2896
HP:0100022	Abnormality of movement	9922	IQSEC1	OMIM:618687
HP:0100022	Abnormality of movement	6595	SMARCA2	OMIM:601358
HP:0100022	Abnormality of movement	5111	PCNA	ORPHA:438134
HP:0100022	Abnormality of movement	54704	PDP1	OMIM:608782
HP:0100022	Abnormality of movement	8925	HERC1	OMIM:617011
HP:0100022	Abnormality of movement	8925	HERC1	ORPHA:457359
HP:0100022	Abnormality of movement	57102	C12orf4	OMIM:618221
HP:0100022	Abnormality of movement	10765	KDM5B	OMIM:618109
HP:0100022	Abnormality of movement	23102	TBC1D2B	OMIM:619323
HP:0100022	Abnormality of movement	4081	MAB21L1	OMIM:618479
HP:0100022	Abnormality of movement	5994	RFXAP	ORPHA:572
HP:0100022	Abnormality of movement	4261	CIITA	ORPHA:572
HP:0100022	Abnormality of movement	5993	RFX5	ORPHA:572
HP:0100022	Abnormality of movement	8625	RFXANK	ORPHA:572
HP:0100022	Abnormality of movement	54974	THG1L	OMIM:618800
HP:0100022	Abnormality of movement	20	ABCA2	OMIM:618808
HP:0100022	Abnormality of movement	372	ARCN1	OMIM:617164
HP:0100022	Abnormality of movement	23395	LARS2	OMIM:615300
HP:0100022	Abnormality of movement	5058	PAK1	OMIM:618158
HP:0100022	Abnormality of movement	9516	LITAF	OMIM:601098
HP:0100022	Abnormality of movement	5456	POU3F4	ORPHA:1435
HP:0100022	Abnormality of movement	2196	FAT2	OMIM:617769
HP:0100022	Abnormality of movement	9698	PUM1	OMIM:617931
HP:0100022	Abnormality of movement	54476	RNF216	OMIM:212840
HP:0100022	Abnormality of movement	7128	TNFAIP3	OMIM:616744
HP:0100022	Abnormality of movement	39	ACAT2	OMIM:614055
HP:0100022	Abnormality of movement	54	ACP5	ORPHA:1855
HP:0100022	Abnormality of movement	51284	TLR7	OMIM:301080
HP:0100022	Abnormality of movement	84833	ATP5MK	OMIM:618683
HP:0100022	Abnormality of movement	9524	TECR	OMIM:614020
HP:0100022	Abnormality of movement	775	CACNA1C	OMIM:620029
HP:0100022	Abnormality of movement	5457	POU4F1	ORPHA:314647
HP:0100022	Abnormality of movement	5457	POU4F1	OMIM:619352
HP:0100022	Abnormality of movement	23261	CAMTA1	ORPHA:314647
HP:0100022	Abnormality of movement	85300	ATCAY	ORPHA:94122
HP:0100022	Abnormality of movement	85300	ATCAY	OMIM:601238
HP:0100022	Abnormality of movement	6712	SPTBN2	ORPHA:352403
HP:0100022	Abnormality of movement	6712	SPTBN2	OMIM:600224
HP:0100022	Abnormality of movement	6712	SPTBN2	OMIM:615386
HP:0100022	Abnormality of movement	221496	LEMD2	OMIM:619322
HP:0100022	Abnormality of movement	267010	RNU12	OMIM:620208
HP:0100022	Abnormality of movement	267010	RNU12	ORPHA:512260
HP:0100022	Abnormality of movement	2332	FMR1	ORPHA:93256
HP:0100022	Abnormality of movement	2332	FMR1	OMIM:300623
HP:0100022	Abnormality of movement	50801	KCNK4	OMIM:618381
HP:0100022	Abnormality of movement	56006	SMG9	OMIM:619995
HP:0100022	Abnormality of movement	4983	OPHN1	ORPHA:137831
HP:0100022	Abnormality of movement	54499	TMCO1	OMIM:213980
HP:0100022	Abnormality of movement	54870	QRICH1	OMIM:617982
HP:0100022	Abnormality of movement	81562	LMAN2L	OMIM:617863
HP:0100022	Abnormality of movement	3295	HSD17B4	OMIM:233400
HP:0100022	Abnormality of movement	2937	GSS	OMIM:266130
HP:0100022	Abnormality of movement	200403	VWA3B	OMIM:616948
HP:0100022	Abnormality of movement	11253	MAN1B1	ORPHA:397941
HP:0100022	Abnormality of movement	1859	DYRK1A	ORPHA:268261
HP:0100022	Abnormality of movement	23241	PACS2	OMIM:618067
HP:0100022	Abnormality of movement	23314	SATB2	ORPHA:251028
HP:0100022	Abnormality of movement	23314	SATB2	OMIM:612313
HP:0100022	Abnormality of movement	85358	SHANK3	OMIM:606232
HP:0100022	Abnormality of movement	10743	RAI1	ORPHA:477817
HP:0100022	Abnormality of movement	80232	WDR26	ORPHA:513456
HP:0100022	Abnormality of movement	80232	WDR26	OMIM:617616
HP:0100022	Abnormality of movement	6492	SIM1	ORPHA:171829
HP:0100022	Abnormality of movement	790	CAD	OMIM:616457
HP:0100022	Abnormality of movement	10847	SRCAP	ORPHA:2044
HP:0100022	Abnormality of movement	2132	EXT2	ORPHA:466926
HP:0100022	Abnormality of movement	4131	MAP1B	OMIM:618918
HP:0100022	Abnormality of movement	4297	KMT2A	OMIM:605130
HP:0100022	Abnormality of movement	63035	BCORL1	OMIM:301029
HP:0100022	Abnormality of movement	9968	MED12	ORPHA:93932
HP:0100022	Abnormality of movement	26007	TKFC	OMIM:618805
HP:0100022	Abnormality of movement	9378	NRXN1	OMIM:614325
HP:0100022	Abnormality of movement	10087	CERT1	OMIM:616351
HP:0100022	Abnormality of movement	7156	TOP3A	OMIM:618098
HP:0100022	Abnormality of movement	7067	THRA	OMIM:614450
HP:0100022	Abnormality of movement	2783	GNB2	OMIM:619503
HP:0100022	Abnormality of movement	28982	FLVCR1	OMIM:609033
HP:0100022	Abnormality of movement	253738	EBF3	OMIM:617330
HP:0100022	Abnormality of movement	339983	NAT8L	OMIM:614063
HP:0100022	Abnormality of movement	8493	PPM1D	OMIM:617450
HP:0100022	Abnormality of movement	131669	UROC1	OMIM:276880
HP:0100022	Abnormality of movement	131669	UROC1	ORPHA:210128
HP:0100022	Abnormality of movement	8936	WASF1	OMIM:618707
HP:0100022	Abnormality of movement	122553	TRAPPC6B	OMIM:617862
HP:0100022	Abnormality of movement	53335	BCL11A	OMIM:617101
HP:0100022	Abnormality of movement	57688	ZSWIM6	OMIM:617865
HP:0100022	Abnormality of movement	93587	TRMT10A	ORPHA:391408
HP:0100022	Abnormality of movement	54888	NSUN2	OMIM:611091
HP:0100022	Abnormality of movement	7518	XRCC4	OMIM:616541
HP:0100022	Abnormality of movement	1107	CHD3	OMIM:618205
HP:0100022	Abnormality of movement	96459	FNIP1	OMIM:619705
HP:0100022	Abnormality of movement	57194	ATP10A	ORPHA:411515
HP:0100022	Abnormality of movement	7337	UBE3A	ORPHA:98794
HP:0100022	Abnormality of movement	7337	UBE3A	ORPHA:98795
HP:0100022	Abnormality of movement	7337	UBE3A	ORPHA:411511
HP:0100022	Abnormality of movement	4948	OCA2	ORPHA:98794
HP:0100022	Abnormality of movement	4694	NDUFA1	OMIM:301020
HP:0100022	Abnormality of movement	23013	SPEN	OMIM:619312
HP:0100022	Abnormality of movement	513	ATP5F1D	OMIM:618120
HP:0100022	Abnormality of movement	50484	RRM2B	ORPHA:329336
HP:0100022	Abnormality of movement	246243	RNASEH1	ORPHA:329336
HP:0100022	Abnormality of movement	1108	CHD4	OMIM:617159
HP:0100022	Abnormality of movement	54834	GDAP2	OMIM:618369
HP:0100022	Abnormality of movement	6804	STX1A	ORPHA:904
HP:0100022	Abnormality of movement	7461	CLIP2	ORPHA:904
HP:0100022	Abnormality of movement	84277	DNAJC30	ORPHA:904
HP:0100022	Abnormality of movement	8468	FKBP6	ORPHA:904
HP:0100022	Abnormality of movement	5982	RFC2	ORPHA:904
HP:0100022	Abnormality of movement	2969	GTF2I	ORPHA:904
HP:0100022	Abnormality of movement	3984	LIMK1	ORPHA:904
HP:0100022	Abnormality of movement	9569	GTF2IRD1	ORPHA:904
HP:0100022	Abnormality of movement	155382	VPS37D	ORPHA:904
HP:0100022	Abnormality of movement	155368	METTL27	ORPHA:904
HP:0100022	Abnormality of movement	114049	BUD23	ORPHA:904
HP:0100022	Abnormality of movement	7458	EIF4H	ORPHA:904
HP:0100022	Abnormality of movement	84163	GTF2IRD2	ORPHA:904
HP:0100022	Abnormality of movement	9275	BCL7B	ORPHA:904
HP:0100022	Abnormality of movement	26608	TBL2	ORPHA:904
HP:0100022	Abnormality of movement	653361	NCF1	ORPHA:904
HP:0100022	Abnormality of movement	135886	TMEM270	ORPHA:904
HP:0100022	Abnormality of movement	51085	MLXIPL	ORPHA:904
HP:0100022	Abnormality of movement	51085	MLXIPL	OMIM:194050
HP:0100022	Abnormality of movement	9031	BAZ1B	ORPHA:904
HP:0100022	Abnormality of movement	2006	ELN	ORPHA:904
HP:0100022	Abnormality of movement	2006	ELN	OMIM:194050
HP:0100022	Abnormality of movement	84100	ARL6	OMIM:209900
HP:0100022	Abnormality of movement	79140	CCDC28B	OMIM:209900
HP:0100022	Abnormality of movement	582	BBS1	OMIM:209900
HP:0100022	Abnormality of movement	83480	PUS3	ORPHA:488627
HP:0100022	Abnormality of movement	9289	ADGRG1	ORPHA:101070
HP:0100022	Abnormality of movement	5728	PTEN	ORPHA:101070
HP:0100022	Abnormality of movement	3098	HK1	ORPHA:99953
HP:0100022	Abnormality of movement	25814	ATXN10	ORPHA:98761
HP:0100022	Abnormality of movement	54872	PIGG	ORPHA:488635
HP:0100022	Abnormality of movement	113278	SLC52A3	OMIM:211530
HP:0100022	Abnormality of movement	10522	DEAF1	ORPHA:468620
HP:0100022	Abnormality of movement	51501	HIKESHI	OMIM:616881
HP:0100022	Abnormality of movement	6536	SLC6A9	OMIM:617301
HP:0100022	Abnormality of movement	9440	MED17	OMIM:613668
HP:0100022	Abnormality of movement	11117	EMILIN1	OMIM:620080
HP:0100022	Abnormality of movement	819	CAMLG	OMIM:620201
HP:0100022	Abnormality of movement	4693	NDP	ORPHA:649
HP:0100022	Abnormality of movement	2801	GOLGA2	OMIM:620240
HP:0100022	Abnormality of movement	23028	KDM1A	ORPHA:477993
HP:0100022	Abnormality of movement	81614	NIPA2	ORPHA:261183
HP:0100022	Abnormality of movement	7852	CXCR4	ORPHA:51636
HP:0100022	Abnormality of movement	2146	EZH2	OMIM:277590
HP:0100022	Abnormality of movement	5167	ENPP1	ORPHA:758
HP:0100022	Abnormality of movement	368	ABCC6	ORPHA:758
HP:0100022	Abnormality of movement	1737	DLAT	OMIM:245348
HP:0100022	Abnormality of movement	1737	DLAT	ORPHA:79244
HP:0100022	Abnormality of movement	1137	CHRNA4	ORPHA:98784
HP:0100022	Abnormality of movement	1135	CHRNA2	ORPHA:98784
HP:0100022	Abnormality of movement	57010	CABP4	ORPHA:98784
HP:0100022	Abnormality of movement	1141	CHRNB2	ORPHA:98784
HP:0100022	Abnormality of movement	57582	KCNT1	ORPHA:98784
HP:0100022	Abnormality of movement	1392	CRH	ORPHA:98784
HP:0100022	Abnormality of movement	9681	DEPDC5	ORPHA:98784
HP:0100022	Abnormality of movement	6513	SLC2A1	OMIM:606777
HP:0100022	Abnormality of movement	23221	RHOBTB2	OMIM:618004
HP:0100022	Abnormality of movement	25953	PNKD	OMIM:118800
HP:0100022	Abnormality of movement	57465	TBC1D24	ORPHA:163727
HP:0100022	Abnormality of movement	57465	TBC1D24	OMIM:608105
HP:0100022	Abnormality of movement	283989	TSEN54	ORPHA:2524
HP:0100022	Abnormality of movement	116461	TSEN15	ORPHA:2524
HP:0100022	Abnormality of movement	79042	TSEN34	ORPHA:2524
HP:0100022	Abnormality of movement	80746	TSEN2	ORPHA:2524
HP:0100022	Abnormality of movement	51091	SEPSECS	ORPHA:2524
HP:0100022	Abnormality of movement	112476	PRRT2	OMIM:128200
HP:0100022	Abnormality of movement	112476	PRRT2	OMIM:602066
HP:0100022	Abnormality of movement	10667	FARS2	ORPHA:466722
HP:0100022	Abnormality of movement	59336	PRDM13	OMIM:619909
HP:0100022	Abnormality of movement	4927	NUP88	ORPHA:994
HP:0100022	Abnormality of movement	7846	TUBA1A	ORPHA:994
HP:0100022	Abnormality of movement	4654	MYOD1	ORPHA:994
HP:0100022	Abnormality of movement	4593	MUSK	ORPHA:994
HP:0100022	Abnormality of movement	5913	RAPSN	ORPHA:994
HP:0100022	Abnormality of movement	6572	SLC18A3	ORPHA:994
HP:0100022	Abnormality of movement	285489	DOK7	ORPHA:994
HP:0100022	Abnormality of movement	1272	CNTN1	OMIM:612540
HP:0100022	Abnormality of movement	8087	FXR1	OMIM:618822
HP:0100022	Abnormality of movement	55640	FLVCR2	OMIM:225790
HP:0100022	Abnormality of movement	1144	CHRND	OMIM:253290
HP:0100022	Abnormality of movement	1134	CHRNA1	OMIM:253290
HP:0100022	Abnormality of movement	2065	ERBB3	OMIM:607598
HP:0100022	Abnormality of movement	5091	PC	OMIM:266150
HP:0100022	Abnormality of movement	56896	DPYSL5	OMIM:619435
HP:0100022	Abnormality of movement	80036	TRPM3	OMIM:620224
HP:0100022	Abnormality of movement	1528	CYB5A	ORPHA:621
HP:0100022	Abnormality of movement	1727	CYB5R3	ORPHA:621
HP:0100022	Abnormality of movement	23556	PIGN	ORPHA:280633
HP:0100022	Abnormality of movement	10730	YME1L1	OMIM:617302
HP:0100022	Abnormality of movement	50	ACO2	OMIM:614559
HP:0100022	Abnormality of movement	5831	PYCR1	OMIM:614438
HP:0100022	Abnormality of movement	55650	PIGV	OMIM:239300
HP:0100022	Abnormality of movement	3054	HCFC1	OMIM:309541
HP:0100022	Abnormality of movement	6833	ABCC8	OMIM:618857
HP:0100022	Abnormality of movement	26227	PHGDH	ORPHA:79351
HP:0100022	Abnormality of movement	8241	RBM10	OMIM:311900
HP:0100022	Abnormality of movement	10559	SLC35A1	OMIM:603585
HP:0100022	Abnormality of movement	781	CACNA2D1	OMIM:620149
HP:0100022	Abnormality of movement	27235	COQ2	ORPHA:227510
HP:0100022	Abnormality of movement	27235	COQ2	ORPHA:98933
HP:0100022	Abnormality of movement	57704	GBA2	OMIM:614409
HP:0100022	Abnormality of movement	6314	ATXN7	ORPHA:94147
HP:0100022	Abnormality of movement	6314	ATXN7	OMIM:164500
HP:0100022	Abnormality of movement	2259	FGF14	OMIM:193003
HP:0100022	Abnormality of movement	64132	XYLT2	OMIM:605822
HP:0100022	Abnormality of movement	8924	HERC2	OMIM:615516
HP:0100022	Abnormality of movement	55812	SPATA7	ORPHA:364055
HP:0100022	Abnormality of movement	6121	RPE65	ORPHA:364055
HP:0100022	Abnormality of movement	167691	LCA5	ORPHA:364055
HP:0100022	Abnormality of movement	318	NUDT2	OMIM:619844
HP:0100022	Abnormality of movement	1725	DHPS	OMIM:618480
HP:0100022	Abnormality of movement	56479	KCNQ5	OMIM:617601
HP:0100022	Abnormality of movement	4247	MGAT2	OMIM:212066
HP:0100022	Abnormality of movement	1387	CREBBP	OMIM:180849
HP:0100022	Abnormality of movement	2033	EP300	OMIM:180849
HP:0100022	Abnormality of movement	55690	PACS1	ORPHA:329224
HP:0100022	Abnormality of movement	7384	UQCRC1	OMIM:619279
HP:0100022	Abnormality of movement	1181	CLCN2	OMIM:615651
HP:0100022	Abnormality of movement	23769	FLRT1	ORPHA:320406
HP:0100022	Abnormality of movement	1024	CDK8	OMIM:618748
HP:0100022	Abnormality of movement	120227	CYP2R1	OMIM:600081
HP:0100022	Abnormality of movement	120227	CYP2R1	ORPHA:289157
HP:0100022	Abnormality of movement	7072	TIA1	ORPHA:603
HP:0100022	Abnormality of movement	9782	MATR3	ORPHA:600
HP:0100022	Abnormality of movement	1656	DDX6	OMIM:618653
HP:0100022	Abnormality of movement	1594	CYP27B1	OMIM:264700
HP:0100022	Abnormality of movement	1594	CYP27B1	ORPHA:289157
HP:0100022	Abnormality of movement	55526	DHTKD1	OMIM:615025
HP:0100022	Abnormality of movement	8239	USP9X	ORPHA:480880
HP:0100022	Abnormality of movement	11149	BVES	OMIM:616812
HP:0100022	Abnormality of movement	4883	NPR3	OMIM:619543
HP:0100022	Abnormality of movement	6652	SORD	OMIM:618912
HP:0100022	Abnormality of movement	112939	NACC1	OMIM:617393
HP:0100022	Abnormality of movement	26175	LYSET	OMIM:619345
HP:0100022	Abnormality of movement	2799	GNS	OMIM:252940
HP:0100022	Abnormality of movement	5317	PKP1	ORPHA:158668
HP:0100022	Abnormality of movement	210	ALAD	ORPHA:100924
HP:0100022	Abnormality of movement	89970	RSPRY1	ORPHA:457395
HP:0100022	Abnormality of movement	9451	EIF2AK3	ORPHA:1667
HP:0100022	Abnormality of movement	4914	NTRK1	ORPHA:642
HP:0100022	Abnormality of movement	125170	MIEF2	OMIM:619024
HP:0100022	Abnormality of movement	1436	CSF1R	OMIM:221820
HP:0100022	Abnormality of movement	10269	ZMPSTE24	ORPHA:740
HP:0100022	Abnormality of movement	6444	SGCD	ORPHA:219
HP:0100022	Abnormality of movement	3897	L1CAM	OMIM:303350
HP:0100022	Abnormality of movement	8260	NAA10	ORPHA:276432
HP:0100022	Abnormality of movement	3920	LAMP2	OMIM:300257
HP:0100022	Abnormality of movement	85476	GFM1	OMIM:609060
HP:0100022	Abnormality of movement	8818	DPM2	OMIM:615042
HP:0100022	Abnormality of movement	440138	ALG11	ORPHA:280071
HP:0100022	Abnormality of movement	131377	KLHL40	ORPHA:171430
HP:0100022	Abnormality of movement	51025	PAM16	OMIM:613320
HP:0100022	Abnormality of movement	51021	MRPS16	OMIM:610498
HP:0100022	Abnormality of movement	5165	PDK3	OMIM:300905
HP:0100022	Abnormality of movement	5165	PDK3	ORPHA:352675
HP:0100022	Abnormality of movement	7253	TSHR	ORPHA:99819
HP:0100022	Abnormality of movement	7253	TSHR	ORPHA:424
HP:0100022	Abnormality of movement	4803	NGF	OMIM:608654
HP:0100022	Abnormality of movement	2645	GCK	ORPHA:79299
HP:0100022	Abnormality of movement	55023	PHIP	ORPHA:589905
HP:0100022	Abnormality of movement	1814	DRD3	OMIM:190300
HP:0100022	Abnormality of movement	10058	ABCB6	OMIM:609153
HP:0100022	Abnormality of movement	10749	KIF1C	ORPHA:397946
HP:0100022	Abnormality of movement	10749	KIF1C	OMIM:611302
HP:0100022	Abnormality of movement	1410	CRYAB	OMIM:608810
HP:0100022	Abnormality of movement	1938	EEF2	ORPHA:101112
HP:0100022	Abnormality of movement	5393	EXOSC9	OMIM:618065
HP:0100022	Abnormality of movement	3315	HSPB1	OMIM:606595
HP:0100022	Abnormality of movement	23435	TARDBP	ORPHA:275872
HP:0100022	Abnormality of movement	29110	TBK1	ORPHA:275872
HP:0100022	Abnormality of movement	29110	TBK1	OMIM:616439
HP:0100022	Abnormality of movement	7879	RAB7A	OMIM:600882
HP:0100022	Abnormality of movement	6647	SOD1	OMIM:618598
HP:0100022	Abnormality of movement	6647	SOD1	OMIM:105400
HP:0100022	Abnormality of movement	10613	ERLIN1	OMIM:615681
HP:0100022	Abnormality of movement	10528	NOP56	OMIM:614153
HP:0100022	Abnormality of movement	10528	NOP56	ORPHA:276198
HP:0100022	Abnormality of movement	90678	LRSAM1	OMIM:614436
HP:0100022	Abnormality of movement	7443	VRK1	OMIM:607596
HP:0100022	Abnormality of movement	6785	ELOVL4	OMIM:133190
HP:0100022	Abnormality of movement	3178	HNRNPA1	ORPHA:52430
HP:0100022	Abnormality of movement	3181	HNRNPA2B1	ORPHA:52430
HP:0100022	Abnormality of movement	57104	PNPLA2	OMIM:610717
HP:0100022	Abnormality of movement	57104	PNPLA2	ORPHA:98908
HP:0100022	Abnormality of movement	55129	ANO10	ORPHA:284289
HP:0100022	Abnormality of movement	55129	ANO10	OMIM:613728
HP:0100022	Abnormality of movement	3094	HINT1	OMIM:137200
HP:0100022	Abnormality of movement	23299	BICD2	OMIM:615290
HP:0100022	Abnormality of movement	2717	GLA	OMIM:301500
HP:0100022	Abnormality of movement	182	JAG1	OMIM:619574
HP:0100022	Abnormality of movement	81545	FBXO38	OMIM:615575
HP:0100022	Abnormality of movement	10133	OPTN	OMIM:613435
HP:0100022	Abnormality of movement	311	ANXA11	OMIM:619733
HP:0100022	Abnormality of movement	55681	SCYL2	ORPHA:1143
HP:0100022	Abnormality of movement	84570	COL25A1	ORPHA:1143
HP:0100022	Abnormality of movement	57222	ERGIC1	ORPHA:1143
HP:0100022	Abnormality of movement	6261	RYR1	ORPHA:324581
HP:0100022	Abnormality of movement	5216	PFN1	OMIM:614808
HP:0100022	Abnormality of movement	9217	VAPB	OMIM:608627
HP:0100022	Abnormality of movement	9217	VAPB	OMIM:182980
HP:0100022	Abnormality of movement	899	CCNF	OMIM:619141
HP:0100022	Abnormality of movement	114034	TOE1	ORPHA:284339
HP:0100022	Abnormality of movement	9562	MINPP1	ORPHA:284339
HP:0100022	Abnormality of movement	6329	SCN4A	ORPHA:682
HP:0100022	Abnormality of movement	2743	GLRB	ORPHA:3197
HP:0100022	Abnormality of movement	2741	GLRA1	ORPHA:3197
HP:0100022	Abnormality of movement	10243	GPHN	ORPHA:3197
HP:0100022	Abnormality of movement	84896	ATAD1	ORPHA:3197
HP:0100022	Abnormality of movement	9152	SLC6A5	ORPHA:3197
HP:0100022	Abnormality of movement	65250	CPLANE1	ORPHA:65684
HP:0100022	Abnormality of movement	57562	CEP126	ORPHA:65684
HP:0100022	Abnormality of movement	2896	GRN	ORPHA:275864
HP:0100022	Abnormality of movement	54209	TREM2	ORPHA:275864
HP:0100022	Abnormality of movement	367	AR	OMIM:313200
HP:0100022	Abnormality of movement	5630	PRPH	OMIM:105400
HP:0100022	Abnormality of movement	4744	NEFH	OMIM:105400
HP:0100022	Abnormality of movement	3475	IFRD1	ORPHA:98771
HP:0100022	Abnormality of movement	57128	LYRM4	OMIM:615595
HP:0100022	Abnormality of movement	5361	PLXNA1	OMIM:619955
HP:0100022	Abnormality of movement	55823	VPS11	OMIM:619637
HP:0100022	Abnormality of movement	285362	SUMF1	OMIM:272200
HP:0100022	Abnormality of movement	8869	ST3GAL5	OMIM:609056
HP:0100022	Abnormality of movement	9101	USP8	ORPHA:401795
HP:0100022	Abnormality of movement	8813	DPM1	OMIM:608799
HP:0100022	Abnormality of movement	8622	PDE8B	OMIM:609161
HP:0100022	Abnormality of movement	7436	VLDLR	OMIM:224050
HP:0100022	Abnormality of movement	3930	LBR	OMIM:169400
HP:0100022	Abnormality of movement	10943	MSL3	OMIM:301032
HP:0100022	Abnormality of movement	54903	MKS1	OMIM:617121
HP:0100022	Abnormality of movement	8295	TRRAP	OMIM:618454
HP:0100022	Abnormality of movement	2752	GLUL	OMIM:610015
HP:0100022	Abnormality of movement	9711	RUBCN	OMIM:615705
HP:0100022	Abnormality of movement	2934	GSN	ORPHA:85448
HP:0100022	Abnormality of movement	347734	SLC35B2	OMIM:620269
HP:0100022	Abnormality of movement	128486	FITM2	OMIM:618635
HP:0100022	Abnormality of movement	25914	RTTN	ORPHA:468631
HP:0100022	Abnormality of movement	10020	GNE	ORPHA:3166
HP:0100022	Abnormality of movement	23096	IQSEC2	ORPHA:397933
HP:0100022	Abnormality of movement	7915	ALDH5A1	OMIM:271980
HP:0100022	Abnormality of movement	2066	ERBB4	OMIM:615515
HP:0100022	Abnormality of movement	53616	ADAM22	OMIM:617933
HP:0100022	Abnormality of movement	3714	JAG2	OMIM:619566
HP:0100022	Abnormality of movement	9453	GGPS1	OMIM:619518
HP:0100022	Abnormality of movement	23141	ANKLE2	OMIM:616681
HP:0100022	Abnormality of movement	56945	MRPS22	OMIM:611719
HP:0100022	Abnormality of movement	79709	COLGALT1	OMIM:618360
HP:0100022	Abnormality of movement	22796	COG2	OMIM:617395
HP:0100022	Abnormality of movement	22796	COG2	ORPHA:435934
HP:0100022	Abnormality of movement	7283	TUBG1	OMIM:615412
HP:0100022	Abnormality of movement	3796	KIF2A	OMIM:615411
HP:0100022	Abnormality of movement	6905	TBCE	OMIM:617207
HP:0100022	Abnormality of movement	4990	SIX6	OMIM:206900
HP:0100022	Abnormality of movement	6657	SOX2	OMIM:206900
HP:0100022	Abnormality of movement	27286	SRPX2	ORPHA:98889
HP:0100022	Abnormality of movement	3800	KIF5C	OMIM:615282
HP:0100022	Abnormality of movement	440	ASNS	OMIM:615574
HP:0100022	Abnormality of movement	1284	COL4A2	OMIM:614483
HP:0100022	Abnormality of movement	64919	BCL11B	OMIM:617237
HP:0100022	Abnormality of movement	28962	OSTM1	OMIM:259720
HP:0100022	Abnormality of movement	51075	TMX2	OMIM:618730
HP:0100022	Abnormality of movement	120	ADD3	OMIM:617008
HP:0100022	Abnormality of movement	55770	EXOC2	OMIM:619306
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:97240
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:97244
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:171436
HP:0100022	Abnormality of movement	58	ACTA1	OMIM:161800
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:171439
HP:0100022	Abnormality of movement	10290	SPEG	ORPHA:169186
HP:0100022	Abnormality of movement	7273	TTN	ORPHA:169186
HP:0100022	Abnormality of movement	57190	SELENON	ORPHA:97244
HP:0100022	Abnormality of movement	91452	ACBD5	OMIM:618863
HP:0100022	Abnormality of movement	127833	SYT2	OMIM:616040
HP:0100022	Abnormality of movement	127833	SYT2	ORPHA:98914
HP:0100022	Abnormality of movement	8838	CCN6	OMIM:208230
HP:0100022	Abnormality of movement	8838	CCN6	ORPHA:1159
HP:0100022	Abnormality of movement	7109	TRAPPC10	OMIM:620027
HP:0100022	Abnormality of movement	10049	DNAJB6	OMIM:603511
HP:0100022	Abnormality of movement	1120	CHKB	OMIM:602541
HP:0100022	Abnormality of movement	7169	TPM2	ORPHA:171436
HP:0100022	Abnormality of movement	7169	TPM2	OMIM:609285
HP:0100022	Abnormality of movement	7169	TPM2	ORPHA:171439
HP:0100022	Abnormality of movement	10324	KLHL41	ORPHA:171436
HP:0100022	Abnormality of movement	10324	KLHL41	ORPHA:171439
HP:0100022	Abnormality of movement	56203	LMOD3	ORPHA:171436
HP:0100022	Abnormality of movement	1836	SLC26A2	ORPHA:93307
HP:0100022	Abnormality of movement	1311	COMP	ORPHA:93308
HP:0100022	Abnormality of movement	1311	COMP	OMIM:132400
HP:0100022	Abnormality of movement	1311	COMP	ORPHA:750
HP:0100022	Abnormality of movement	1311	COMP	OMIM:177170
HP:0100022	Abnormality of movement	55033	FKBP14	OMIM:614557
HP:0100022	Abnormality of movement	9200	HACD1	OMIM:619967
HP:0100022	Abnormality of movement	22954	TRIM32	ORPHA:1878
HP:0100022	Abnormality of movement	22954	TRIM32	OMIM:254110
HP:0100022	Abnormality of movement	1297	COL9A1	ORPHA:166002
HP:0100022	Abnormality of movement	1298	COL9A2	ORPHA:166002
HP:0100022	Abnormality of movement	1298	COL9A2	OMIM:600204
HP:0100022	Abnormality of movement	1299	COL9A3	ORPHA:166002
HP:0100022	Abnormality of movement	2673	GFPT1	ORPHA:353327
HP:0100022	Abnormality of movement	2673	GFPT1	OMIM:610542
HP:0100022	Abnormality of movement	199857	ALG14	ORPHA:353327
HP:0100022	Abnormality of movement	7125	TNNC2	OMIM:620161
HP:0100022	Abnormality of movement	4148	MATN3	ORPHA:156728
HP:0100022	Abnormality of movement	4148	MATN3	OMIM:608728
HP:0100022	Abnormality of movement	1300	COL10A1	ORPHA:174
HP:0100022	Abnormality of movement	1300	COL10A1	OMIM:156500
HP:0100022	Abnormality of movement	2273	FHL1	OMIM:300695
HP:0100022	Abnormality of movement	2273	FHL1	OMIM:300280
HP:0100022	Abnormality of movement	2273	FHL1	ORPHA:98863
HP:0100022	Abnormality of movement	9469	CHST3	ORPHA:263463
HP:0100022	Abnormality of movement	9469	CHST3	OMIM:143095
HP:0100022	Abnormality of movement	7040	TGFB1	OMIM:131300
HP:0100022	Abnormality of movement	7040	TGFB1	ORPHA:1328
HP:0100022	Abnormality of movement	9581	PREPL	OMIM:616224
HP:0100022	Abnormality of movement	2010	EMD	OMIM:310300
HP:0100022	Abnormality of movement	2010	EMD	ORPHA:98863
HP:0100022	Abnormality of movement	176	ACAN	OMIM:165800
HP:0100022	Abnormality of movement	9241	NOG	OMIM:186500
HP:0100022	Abnormality of movement	4620	MYH2	OMIM:605637
HP:0100022	Abnormality of movement	112812	FDX2	OMIM:251900
HP:0100022	Abnormality of movement	1605	DAG1	ORPHA:280333
HP:0100022	Abnormality of movement	633	BGN	OMIM:300106
HP:0100022	Abnormality of movement	4041	LRP5	ORPHA:2788
HP:0100022	Abnormality of movement	57449	PLEKHG5	OMIM:611067
HP:0100022	Abnormality of movement	121512	FGD4	OMIM:609311
HP:0100022	Abnormality of movement	8425	LTBP4	ORPHA:98896
HP:0100022	Abnormality of movement	2335	FN1	OMIM:184255
HP:0100022	Abnormality of movement	6445	SGCG	ORPHA:353
HP:0100022	Abnormality of movement	4322	MMP13	OMIM:602111
HP:0100022	Abnormality of movement	4322	MMP13	OMIM:250400
HP:0100022	Abnormality of movement	203859	ANO5	ORPHA:399096
HP:0100022	Abnormality of movement	23126	POGZ	OMIM:616364
HP:0100022	Abnormality of movement	2588	GALNS	OMIM:253000
HP:0100022	Abnormality of movement	55325	UFSP2	OMIM:617974
HP:0100022	Abnormality of movement	84665	MYPN	OMIM:617336
HP:0100022	Abnormality of movement	84665	MYPN	ORPHA:171439
HP:0100022	Abnormality of movement	6442	SGCA	ORPHA:62
HP:0100022	Abnormality of movement	8720	MBTPS1	OMIM:618392
HP:0100022	Abnormality of movement	4649	MYO9A	ORPHA:98914
HP:0100022	Abnormality of movement	1305	COL13A1	ORPHA:98914
HP:0100022	Abnormality of movement	1103	CHAT	ORPHA:98914
HP:0100022	Abnormality of movement	6576	SLC25A1	ORPHA:98914
HP:0100022	Abnormality of movement	375790	AGRN	ORPHA:98914
HP:0100022	Abnormality of movement	6616	SNAP25	ORPHA:98914
HP:0100022	Abnormality of movement	8292	COLQ	ORPHA:98915
HP:0100022	Abnormality of movement	3913	LAMB2	ORPHA:98915
HP:0100022	Abnormality of movement	50485	SMARCAL1	OMIM:242900
HP:0100022	Abnormality of movement	1291	COL6A1	ORPHA:610
HP:0100022	Abnormality of movement	1292	COL6A2	ORPHA:610
HP:0100022	Abnormality of movement	124583	CANT1	OMIM:251450
HP:0100022	Abnormality of movement	5745	PTH1R	OMIM:156400
HP:0100022	Abnormality of movement	142680	SLC34A3	ORPHA:157215
HP:0100022	Abnormality of movement	6569	SLC34A1	ORPHA:157215
HP:0100022	Abnormality of movement	249	ALPL	OMIM:241510
HP:0100022	Abnormality of movement	390594	KBTBD13	ORPHA:171439
HP:0100022	Abnormality of movement	7170	TPM3	ORPHA:171439
HP:0100022	Abnormality of movement	51776	MAP3K20	OMIM:617760
HP:0100022	Abnormality of movement	91252	SLC39A13	OMIM:612350
HP:0100022	Abnormality of movement	6443	SGCB	ORPHA:119
HP:0100022	Abnormality of movement	25886	POC1A	OMIM:614813
HP:0100022	Abnormality of movement	23224	SYNE2	ORPHA:98853
HP:0100022	Abnormality of movement	8888	MCM3AP	OMIM:618124
HP:0100022	Abnormality of movement	1674	DES	ORPHA:98909
HP:0100022	Abnormality of movement	8557	TCAP	OMIM:601954
HP:0100022	Abnormality of movement	374393	FAM111B	OMIM:615704
HP:0100022	Abnormality of movement	3710	ITPR3	OMIM:620111
HP:0100022	Abnormality of movement	6786	STIM1	OMIM:160565
HP:0100022	Abnormality of movement	64208	POPDC3	OMIM:618848
HP:0100022	Abnormality of movement	6418	SET	OMIM:618106
HP:0100022	Abnormality of movement	9227	LRAT	OMIM:613341
HP:0100022	Abnormality of movement	84876	ORAI1	OMIM:615883
HP:0100022	Abnormality of movement	57724	EPG5	OMIM:242840
HP:0100022	Abnormality of movement	5826	ABCD4	OMIM:614857
HP:0100022	Abnormality of movement	5621	PRNP	ORPHA:157941
HP:0100022	Abnormality of movement	2137	EXTL3	ORPHA:508533
HP:0100022	Abnormality of movement	3064	HTT	ORPHA:399
HP:0100022	Abnormality of movement	6515	SLC2A3	ORPHA:399
HP:0100022	Abnormality of movement	4359	MPZ	OMIM:618184
HP:0100022	Abnormality of movement	158	ADSL	OMIM:103050
HP:0100022	Abnormality of movement	91574	MTRFR	ORPHA:254930
HP:0100022	Abnormality of movement	29925	GMPPB	OMIM:615350
HP:0100022	Abnormality of movement	2775	GNAO1	OMIM:615473
HP:0100022	Abnormality of movement	60684	TRAPPC11	OMIM:615356
HP:0100022	Abnormality of movement	7355	SLC35A2	ORPHA:356961
HP:0100022	Abnormality of movement	9254	CACNA2D2	OMIM:618501
HP:0100022	Abnormality of movement	4747	NEFL	ORPHA:99939
HP:0100022	Abnormality of movement	4747	NEFL	ORPHA:101085
HP:0100022	Abnormality of movement	1119	CHKA	OMIM:620023
HP:0100022	Abnormality of movement	10159	ATP6AP2	ORPHA:93952
HP:0100022	Abnormality of movement	9499	MYOT	ORPHA:266
HP:0100022	Abnormality of movement	3190	HNRNPK	ORPHA:453504
HP:0100022	Abnormality of movement	3190	HNRNPK	ORPHA:352665
HP:0100022	Abnormality of movement	8291	DYSF	ORPHA:268
HP:0100022	Abnormality of movement	65993	MRPS34	OMIM:617664
HP:0100022	Abnormality of movement	80816	ASXL3	OMIM:615485
HP:0100022	Abnormality of movement	80816	ASXL3	ORPHA:352577
HP:0100022	Abnormality of movement	2782	GNB1	ORPHA:488613
HP:0100022	Abnormality of movement	2782	GNB1	OMIM:616973
HP:0100022	Abnormality of movement	6487	ST3GAL3	OMIM:615006
HP:0100022	Abnormality of movement	4010	LMX1B	ORPHA:495818
HP:0100022	Abnormality of movement	6812	STXBP1	ORPHA:495818
HP:0100022	Abnormality of movement	166378	AFG2A	OMIM:616577
HP:0100022	Abnormality of movement	65082	VPS33A	OMIM:617303
HP:0100022	Abnormality of movement	65082	VPS33A	ORPHA:505248
HP:0100022	Abnormality of movement	472	ATM	OMIM:208900
HP:0100022	Abnormality of movement	5610	EIF2AK2	OMIM:618877
HP:0100022	Abnormality of movement	2911	GRM1	OMIM:614831
HP:0100022	Abnormality of movement	5689	PSMB1	OMIM:620038
HP:0100022	Abnormality of movement	28960	DCPS	OMIM:616459
HP:0100022	Abnormality of movement	23431	AP4E1	OMIM:613744
HP:0100022	Abnormality of movement	55768	NGLY1	ORPHA:404454
HP:0100022	Abnormality of movement	3908	LAMA2	ORPHA:258
HP:0100022	Abnormality of movement	23321	TRIM2	OMIM:615490
HP:0100022	Abnormality of movement	55154	MSTO1	OMIM:617675
HP:0100022	Abnormality of movement	8913	CACNA1G	OMIM:618087
HP:0100022	Abnormality of movement	215	ABCD1	ORPHA:139396
HP:0100022	Abnormality of movement	7343	UBTF	OMIM:617672
HP:0100022	Abnormality of movement	7343	UBTF	ORPHA:500180
HP:0100022	Abnormality of movement	6844	VAMP2	OMIM:618760
HP:0100022	Abnormality of movement	816	CAMK2B	OMIM:617799
HP:0100022	Abnormality of movement	7084	TK2	OMIM:609560
HP:0100022	Abnormality of movement	1759	DNM1	OMIM:616346
HP:0100022	Abnormality of movement	10381	TUBB3	ORPHA:300570
HP:0100022	Abnormality of movement	81857	MED25	ORPHA:464738
HP:0100022	Abnormality of movement	170825	GSX2	OMIM:618646
HP:0100022	Abnormality of movement	7920	ABHD16A	OMIM:619735
HP:0100022	Abnormality of movement	85465	SELENOI	OMIM:618768
HP:0100022	Abnormality of movement	10716	TBR1	OMIM:606053
HP:0100022	Abnormality of movement	1130	LYST	ORPHA:167
HP:0100022	Abnormality of movement	815	CAMK2A	OMIM:618095
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280210
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280234
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280229
HP:0100022	Abnormality of movement	5354	PLP1	OMIM:312080
HP:0100022	Abnormality of movement	80856	LNPK	OMIM:618090
HP:0100022	Abnormality of movement	171023	ASXL1	ORPHA:97297
HP:0100022	Abnormality of movement	9839	ZEB2	ORPHA:261552
HP:0100022	Abnormality of movement	9839	ZEB2	ORPHA:261537
HP:0100022	Abnormality of movement	22872	SEC31A	OMIM:618651
HP:0100022	Abnormality of movement	1193	CLIC2	ORPHA:324410
HP:0100022	Abnormality of movement	57231	SNX14	OMIM:616354
HP:0100022	Abnormality of movement	84314	TMEM107	OMIM:617563
HP:0100022	Abnormality of movement	80208	SPG11	ORPHA:2822
HP:0100022	Abnormality of movement	80208	SPG11	ORPHA:300605
HP:0100022	Abnormality of movement	79583	TMEM231	OMIM:614970
HP:0100022	Abnormality of movement	51761	ATP8A2	OMIM:615268
HP:0100022	Abnormality of movement	93627	TBCK	ORPHA:488632
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93926
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93924
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93925
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:220386
HP:0100022	Abnormality of movement	2253	FGF8	ORPHA:93926
HP:0100022	Abnormality of movement	2253	FGF8	ORPHA:93924
HP:0100022	Abnormality of movement	2253	FGF8	ORPHA:93925
HP:0100022	Abnormality of movement	2253	FGF8	ORPHA:220386
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93926
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93924
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93925
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:220386
HP:0100022	Abnormality of movement	7050	TGIF1	ORPHA:93926
HP:0100022	Abnormality of movement	7050	TGIF1	ORPHA:93924
HP:0100022	Abnormality of movement	7050	TGIF1	ORPHA:93925
HP:0100022	Abnormality of movement	7050	TGIF1	ORPHA:220386
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93926
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93924
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93925
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:220386
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93926
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93924
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93925
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:220386
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93926
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93924
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93925
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:220386
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93926
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93924
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93925
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:220386
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93926
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93924
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93925
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:220386
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93926
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93924
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93925
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:220386
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93926
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93924
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93925
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:220386
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93926
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93924
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93925
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:220386
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93926
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93924
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93925
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:220386
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93926
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93924
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93925
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:220386
HP:0100022	Abnormality of movement	5376	PMP22	ORPHA:90658
HP:0100022	Abnormality of movement	2260	FGFR1	ORPHA:93924
HP:0100022	Abnormality of movement	2260	FGFR1	ORPHA:220386
HP:0100022	Abnormality of movement	11160	ERLIN2	OMIM:611225
HP:0100022	Abnormality of movement	11160	ERLIN2	ORPHA:209951
HP:0100022	Abnormality of movement	23007	PLCH1	ORPHA:93925
HP:0100022	Abnormality of movement	10735	STAG2	ORPHA:93925
HP:0100022	Abnormality of movement	10735	STAG2	ORPHA:220386
HP:0100022	Abnormality of movement	84947	SERAC1	OMIM:614739
HP:0100022	Abnormality of movement	2395	FXN	ORPHA:95
HP:0100022	Abnormality of movement	10558	SPTLC1	ORPHA:36386
HP:0100022	Abnormality of movement	10558	SPTLC1	ORPHA:300605
HP:0100022	Abnormality of movement	25923	ATL3	ORPHA:36386
HP:0100022	Abnormality of movement	9517	SPTLC2	ORPHA:36386
HP:0100022	Abnormality of movement	51062	ATL1	ORPHA:36386
HP:0100022	Abnormality of movement	4534	MTM1	ORPHA:596
HP:0100022	Abnormality of movement	1798	DPAGT1	ORPHA:86309
HP:0100022	Abnormality of movement	6792	CDKL5	OMIM:300672
HP:0100022	Abnormality of movement	6792	CDKL5	ORPHA:3095
HP:0100022	Abnormality of movement	5518	PPP2R1A	OMIM:616362
HP:0100022	Abnormality of movement	10717	AP4B1	OMIM:614066
HP:0100022	Abnormality of movement	388662	SLC6A17	ORPHA:457212
HP:0100022	Abnormality of movement	388662	SLC6A17	OMIM:616269
HP:0100022	Abnormality of movement	84879	MFSD2A	OMIM:616486
HP:0100022	Abnormality of movement	55773	TBC1D23	OMIM:617695
HP:0100022	Abnormality of movement	51633	OTUD6B	OMIM:617452
HP:0100022	Abnormality of movement	51633	OTUD6B	ORPHA:505237
HP:0100022	Abnormality of movement	27089	UQCRQ	OMIM:615159
HP:0100022	Abnormality of movement	9354	UBE4A	OMIM:619639
HP:0100022	Abnormality of movement	116115	ZNF526	OMIM:619877
HP:0100022	Abnormality of movement	285175	UNC80	OMIM:616801
HP:0100022	Abnormality of movement	4191	MDH2	OMIM:617339
HP:0100022	Abnormality of movement	6134	RPL10	ORPHA:459070
HP:0100022	Abnormality of movement	23345	SYNE1	ORPHA:319332
HP:0100022	Abnormality of movement	93210	PGAP3	OMIM:615716
HP:0100022	Abnormality of movement	64837	KLC2	OMIM:609541
HP:0100022	Abnormality of movement	80704	SLC19A3	OMIM:607483
HP:0100022	Abnormality of movement	83475	DOHH	OMIM:620066
HP:0100022	Abnormality of movement	6609	SMPD1	OMIM:257200
HP:0100022	Abnormality of movement	3766	KCNJ10	ORPHA:199343
HP:0100022	Abnormality of movement	5700	PSMC1	OMIM:620071
HP:0100022	Abnormality of movement	2521	FUS	ORPHA:300605
HP:0100022	Abnormality of movement	10280	SIGMAR1	ORPHA:300605
HP:0100022	Abnormality of movement	57679	ALS2	ORPHA:300605
HP:0100022	Abnormality of movement	54828	BCAS3	OMIM:619641
HP:0100022	Abnormality of movement	9276	COPB2	OMIM:619884
HP:0100022	Abnormality of movement	10991	SLC38A3	OMIM:619881
HP:0100022	Abnormality of movement	6506	SLC1A2	OMIM:617105
HP:0100022	Abnormality of movement	10342	TFG	ORPHA:90117
HP:0100022	Abnormality of movement	10342	TFG	ORPHA:431329
HP:0100022	Abnormality of movement	2555	GABRA2	OMIM:618557
HP:0100022	Abnormality of movement	9568	GABBR2	OMIM:617904
HP:0100022	Abnormality of movement	9568	GABBR2	ORPHA:3095
HP:0100022	Abnormality of movement	3187	HNRNPH1	OMIM:620083
HP:0100022	Abnormality of movement	427	ASAH1	ORPHA:2590
HP:0100022	Abnormality of movement	7143	TNR	OMIM:619653
HP:0100022	Abnormality of movement	23162	MAPK8IP3	OMIM:618443
HP:0100022	Abnormality of movement	197258	FCSK	OMIM:618324
HP:0100022	Abnormality of movement	51227	PIGP	OMIM:617599
HP:0100022	Abnormality of movement	3785	KCNQ2	ORPHA:439218
HP:0100022	Abnormality of movement	50628	GEMIN4	OMIM:617913
HP:0100022	Abnormality of movement	122622	ADSS1	ORPHA:482601
HP:0100022	Abnormality of movement	2055	CLN8	ORPHA:1947
HP:0100022	Abnormality of movement	64116	SLC39A8	ORPHA:468699
HP:0100022	Abnormality of movement	64116	SLC39A8	OMIM:616721
HP:0100022	Abnormality of movement	81846	SBF2	ORPHA:99956
HP:0100022	Abnormality of movement	1487	CTBP1	OMIM:617915
HP:0100022	Abnormality of movement	4556	MT-TE	ORPHA:2596
HP:0100022	Abnormality of movement	10397	NDRG1	ORPHA:99950
HP:0100022	Abnormality of movement	58497	PRUNE1	OMIM:617481
HP:0100022	Abnormality of movement	58497	PRUNE1	ORPHA:544469
HP:0100022	Abnormality of movement	80025	PANK2	ORPHA:216866
HP:0100022	Abnormality of movement	26173	INTS1	OMIM:618571
HP:0100022	Abnormality of movement	55656	INTS8	OMIM:618572
HP:0100022	Abnormality of movement	51693	TRAPPC2L	OMIM:618331
HP:0100022	Abnormality of movement	4208	MEF2C	OMIM:613443
HP:0100022	Abnormality of movement	5813	PURA	OMIM:616158
HP:0100022	Abnormality of movement	22907	DHX30	OMIM:617804
HP:0100022	Abnormality of movement	54332	GDAP1	ORPHA:99948
HP:0100022	Abnormality of movement	79628	SH3TC2	ORPHA:99949
HP:0100022	Abnormality of movement	7407	VARS1	OMIM:617802
HP:0100022	Abnormality of movement	400916	CHCHD10	ORPHA:276435
HP:0100022	Abnormality of movement	6857	SYT1	OMIM:618218
HP:0100022	Abnormality of movement	10695	CNPY3	OMIM:617929
HP:0100022	Abnormality of movement	4000	LMNA	ORPHA:98856
HP:0100022	Abnormality of movement	1861	TOR1A	OMIM:128100
HP:0100022	Abnormality of movement	54808	DYM	ORPHA:239
HP:0100022	Abnormality of movement	1203	CLN5	ORPHA:228360
HP:0100022	Abnormality of movement	55906	ZC4H2	OMIM:301041
HP:0100022	Abnormality of movement	10059	DNM1L	ORPHA:330050
HP:0100022	Abnormality of movement	30000	TNPO2	OMIM:619556
HP:0100022	Abnormality of movement	23516	SLC39A14	OMIM:617013
HP:0100022	Abnormality of movement	8733	GPAA1	OMIM:617810
HP:0100022	Abnormality of movement	51412	ACTL6B	OMIM:618468
HP:0100022	Abnormality of movement	51412	ACTL6B	OMIM:618470
HP:0100022	Abnormality of movement	6323	SCN1A	OMIM:619317
HP:0100022	Abnormality of movement	4703	NEB	OMIM:256030
HP:0100022	Abnormality of movement	6328	SCN3A	OMIM:617938
HP:0100022	Abnormality of movement	22854	NTNG1	ORPHA:3095
HP:0100022	Abnormality of movement	4204	MECP2	ORPHA:3095
HP:0100022	Abnormality of movement	4204	MECP2	ORPHA:778
HP:0100022	Abnormality of movement	4204	MECP2	OMIM:300260
HP:0100022	Abnormality of movement	8243	SMC1A	ORPHA:3095
HP:0100022	Abnormality of movement	8243	SMC1A	ORPHA:220386
HP:0100022	Abnormality of movement	6567	SLC16A2	OMIM:300523
HP:0100022	Abnormality of movement	11277	TREX1	OMIM:225750
HP:0100022	Abnormality of movement	10659	CELF2	OMIM:619561
HP:0100022	Abnormality of movement	63895	PIEZO2	OMIM:617146
HP:0100022	Abnormality of movement	2902	GRIN1	OMIM:617820
HP:0100022	Abnormality of movement	2902	GRIN1	OMIM:614254
HP:0100022	Abnormality of movement	22880	MORC2	ORPHA:466768
HP:0100022	Abnormality of movement	5010	CLDN11	OMIM:619328
HP:0100022	Abnormality of movement	2561	GABRB2	OMIM:617829
HP:0100022	Abnormality of movement	443	ASPA	ORPHA:314911
HP:0100022	Abnormality of movement	2891	GRIA2	OMIM:618917
HP:0100022	Abnormality of movement	79158	GNPTAB	ORPHA:576
HP:0100022	Abnormality of movement	25929	GEMIN5	OMIM:619333
HP:0100022	Abnormality of movement	56915	EXOSC5	OMIM:619576
HP:0100022	Abnormality of movement	55572	FOXRED1	OMIM:618241
HP:0100022	Abnormality of movement	9512	PMPCB	OMIM:617954
HP:0100022	Abnormality of movement	4915	NTRK2	OMIM:617830
HP:0100022	Abnormality of movement	7965	AIMP2	OMIM:618006
HP:0100022	Abnormality of movement	27315	PGAP2	OMIM:614207
HP:0100022	Abnormality of movement	29920	PYCR2	ORPHA:481152
HP:0100022	Abnormality of movement	29920	PYCR2	OMIM:616420
HP:0100022	Abnormality of movement	9361	LONP1	ORPHA:79243
HP:0100022	Abnormality of movement	5160	PDHA1	ORPHA:79243
HP:0100022	Abnormality of movement	2898	GRIK2	OMIM:619580
HP:0100022	Abnormality of movement	1781	DYNC1I2	OMIM:618492
HP:0100022	Abnormality of movement	774	CACNA1B	OMIM:618497
HP:0100022	Abnormality of movement	84188	FAR1	ORPHA:438178
HP:0100022	Abnormality of movement	54681	P4HTM	OMIM:618493
HP:0100022	Abnormality of movement	1822	ATN1	OMIM:618494
HP:0100022	Abnormality of movement	4761	NEUROD2	OMIM:618374
HP:0100022	Abnormality of movement	523	ATP6V1A	OMIM:618012
HP:0100022	Abnormality of movement	2257	FGF12	OMIM:617166
HP:0100022	Abnormality of movement	128637	TBC1D20	OMIM:615663
HP:0100022	Abnormality of movement	6304	SATB1	OMIM:619229
HP:0100022	Abnormality of movement	54551	MAGEL2	OMIM:615547
HP:0100022	Abnormality of movement	57531	HACE1	OMIM:616756
HP:0100022	Abnormality of movement	6611	SMS	ORPHA:3063
HP:0100022	Abnormality of movement	94005	PIGS	OMIM:618143
HP:0100022	Abnormality of movement	57468	SLC12A5	OMIM:616645
HP:0100022	Abnormality of movement	10815	CPLX1	OMIM:617976
HP:0100022	Abnormality of movement	1213	CLTC	OMIM:617854
HP:0100022	Abnormality of movement	22931	RAB18	OMIM:614222
HP:0100022	Abnormality of movement	2318	FLNC	ORPHA:63273
HP:0100022	Abnormality of movement	9894	TELO2	ORPHA:488642
HP:0100022	Abnormality of movement	85440	DOCK7	ORPHA:411986
HP:0100022	Abnormality of movement	56270	WDR45B	OMIM:617977
HP:0100022	Abnormality of movement	246329	STAC3	ORPHA:168572
HP:0100022	Abnormality of movement	378884	NHLRC1	ORPHA:501
HP:0100022	Abnormality of movement	7957	EPM2A	ORPHA:501
HP:0100022	Abnormality of movement	10128	LRPPRC	ORPHA:70472
HP:0100022	Abnormality of movement	9829	DNAJC6	ORPHA:391411
HP:0100022	Abnormality of movement	5420	PODXL	ORPHA:391411
HP:0100022	Abnormality of movement	8867	SYNJ1	ORPHA:391411
HP:0100022	Abnormality of movement	55210	ATAD3A	OMIM:617183
HP:0100022	Abnormality of movement	26503	SLC17A5	OMIM:604369
HP:0100022	Abnormality of movement	9325	TRIP4	OMIM:617066
HP:0100022	Abnormality of movement	291	SLC25A4	OMIM:617184
HP:0100022	Abnormality of movement	22983	MAST1	OMIM:618273
HP:0100022	Abnormality of movement	23287	AGTPBP1	OMIM:618276
HP:0100022	Abnormality of movement	79143	MBOAT7	OMIM:617188
HP:0100022	Abnormality of movement	92335	STRADA	OMIM:611087
HP:0100022	Abnormality of movement	1806	DPYD	ORPHA:1675
HP:0100022	Abnormality of movement	2893	GRIA4	OMIM:617864
HP:0100022	Abnormality of movement	23204	ARL6IP1	OMIM:615685
HP:0100022	Abnormality of movement	6509	SLC1A4	OMIM:616657
HP:0100022	Abnormality of movement	54676	GTPBP2	OMIM:617988
HP:0100022	Abnormality of movement	8911	CACNA1I	OMIM:620114
HP:0100022	Abnormality of movement	84628	NTNG2	OMIM:618718
HP:0100022	Abnormality of movement	6904	TBCD	OMIM:617193
HP:0100022	Abnormality of movement	777	CACNA1E	OMIM:618285
HP:0100022	Abnormality of movement	9197	SLC33A1	OMIM:614482
HP:0100022	Abnormality of movement	1315	COPB1	OMIM:619255
HP:0100022	Abnormality of movement	29954	POMT2	OMIM:613156
HP:0100022	Abnormality of movement	29954	POMT2	ORPHA:206559
HP:0100022	Abnormality of movement	10585	POMT1	OMIM:613155
HP:0100022	Abnormality of movement	2733	GLE1	OMIM:611890
HP:0100022	Abnormality of movement	738	VPS51	OMIM:618606
HP:0100022	Abnormality of movement	2806	GOT2	OMIM:618721
HP:0100022	Abnormality of movement	1678	TIMM8A	ORPHA:52368
HP:0100022	Abnormality of movement	129285	PPP1R21	OMIM:619383
HP:0100022	Abnormality of movement	27072	VPS41	OMIM:619389
HP:0100022	Abnormality of movement	1968	EIF2S3	OMIM:300148
HP:0100022	Abnormality of movement	56947	MFF	OMIM:617086
HP:0100022	Abnormality of movement	1496	CTNNA2	OMIM:618174
HP:0100022	Abnormality of movement	8803	SUCLA2	OMIM:612073
HP:0100022	Abnormality of movement	547	KIF1A	OMIM:614255
HP:0100022	Abnormality of movement	55753	OGDHL	OMIM:619701
HP:0100022	Abnormality of movement	9935	MAFB	OMIM:166300
HP:0100022	Abnormality of movement	1756	DMD	ORPHA:206546
HP:0100022	Abnormality of movement	9990	SLC12A6	OMIM:218000
HP:0100022	Abnormality of movement	284217	LAMA1	ORPHA:370022
HP:0100022	Abnormality of movement	4099	MAG	OMIM:616680
HP:0100022	Abnormality of movement	4099	MAG	ORPHA:459056
HP:0100022	Abnormality of movement	9853	RUSC2	OMIM:617773
HP:0100022	Abnormality of movement	6873	TAF2	OMIM:615599
HP:0100022	Abnormality of movement	6873	TAF2	ORPHA:397951
HP:0100022	Abnormality of movement	2895	GRID2	OMIM:616204
HP:0100022	Abnormality of movement	1786	DNMT1	ORPHA:314404
HP:0100022	Abnormality of movement	6687	SPG7	ORPHA:99013
HP:0100022	Abnormality of movement	6687	SPG7	OMIM:607259
HP:0100022	Abnormality of movement	6687	SPG7	ORPHA:35689
HP:0100022	Abnormality of movement	10908	PNPLA6	ORPHA:139480
HP:0100022	Abnormality of movement	10908	PNPLA6	OMIM:612020
HP:0100022	Abnormality of movement	8722	CTSF	OMIM:615362
HP:0100022	Abnormality of movement	200205	IBA57	OMIM:616451
HP:0100022	Abnormality of movement	200205	IBA57	ORPHA:468661
HP:0100022	Abnormality of movement	1841	DTYMK	OMIM:619847
HP:0100022	Abnormality of movement	2670	GFAP	OMIM:203450
HP:0100022	Abnormality of movement	2670	GFAP	ORPHA:363722
HP:0100022	Abnormality of movement	219285	SAMD9L	OMIM:159550
HP:0100022	Abnormality of movement	219285	SAMD9L	OMIM:619806
HP:0100022	Abnormality of movement	5832	ALDH18A1	OMIM:616586
HP:0100022	Abnormality of movement	5832	ALDH18A1	OMIM:601162
HP:0100022	Abnormality of movement	5832	ALDH18A1	ORPHA:447757
HP:0100022	Abnormality of movement	5832	ALDH18A1	ORPHA:447753
HP:0100022	Abnormality of movement	5832	ALDH18A1	ORPHA:447760
HP:0100022	Abnormality of movement	64834	ELOVL1	OMIM:618527
HP:0100022	Abnormality of movement	2074	ERCC6	OMIM:278800
HP:0100022	Abnormality of movement	343641	TGM6	ORPHA:276193
HP:0100022	Abnormality of movement	343641	TGM6	OMIM:613908
HP:0100022	Abnormality of movement	857	CAV1	OMIM:606721
HP:0100022	Abnormality of movement	55149	MTPAP	ORPHA:254343
HP:0100022	Abnormality of movement	55149	MTPAP	OMIM:613672
HP:0100022	Abnormality of movement	5833	PCYT2	OMIM:618770
HP:0100022	Abnormality of movement	492	ATP2B3	ORPHA:314978
HP:0100022	Abnormality of movement	9897	WASHC5	OMIM:603563
HP:0100022	Abnormality of movement	9897	WASHC5	ORPHA:100989
HP:0100022	Abnormality of movement	51604	PIGT	OMIM:615398
HP:0100022	Abnormality of movement	23259	DDHD2	OMIM:615033
HP:0100022	Abnormality of movement	23474	ETHE1	OMIM:602473
HP:0100022	Abnormality of movement	1615	DARS1	OMIM:615281
HP:0100022	Abnormality of movement	9474	ATG5	OMIM:617584
HP:0100022	Abnormality of movement	25973	PARS2	OMIM:618437
HP:0100022	Abnormality of movement	11261	CHP1	OMIM:618438
HP:0100022	Abnormality of movement	56652	TWNK	OMIM:271245
HP:0100022	Abnormality of movement	56652	TWNK	OMIM:607459
HP:0100022	Abnormality of movement	5981	RFC1	ORPHA:504476
HP:0100022	Abnormality of movement	339855	KY	ORPHA:496689
HP:0100022	Abnormality of movement	9725	TMEM63A	OMIM:618688
HP:0100022	Abnormality of movement	6683	SPAST	OMIM:182601
HP:0100022	Abnormality of movement	6683	SPAST	ORPHA:100985
HP:0100022	Abnormality of movement	5654	HTRA1	OMIM:600142
HP:0100022	Abnormality of movement	54344	DPM3	ORPHA:263494
HP:0100022	Abnormality of movement	5277	PIGA	OMIM:301072
HP:0100022	Abnormality of movement	4001	LMNB1	ORPHA:99027
HP:0100022	Abnormality of movement	4001	LMNB1	OMIM:169500
HP:0100022	Abnormality of movement	23111	SPART	OMIM:275900
HP:0100022	Abnormality of movement	23111	SPART	ORPHA:101000
HP:0100022	Abnormality of movement	126129	CPT1C	OMIM:616282
HP:0100022	Abnormality of movement	126129	CPT1C	ORPHA:444099
HP:0100022	Abnormality of movement	123606	NIPA1	OMIM:600363
HP:0100022	Abnormality of movement	123606	NIPA1	ORPHA:100988
HP:0100022	Abnormality of movement	5631	PRPS1	ORPHA:423479
HP:0100022	Abnormality of movement	81790	RNF170	OMIM:619686
HP:0100022	Abnormality of movement	81790	RNF170	OMIM:608984
HP:0100022	Abnormality of movement	23114	NFASC	OMIM:618356
HP:0100022	Abnormality of movement	8492	PRSS12	OMIM:249500
HP:0100022	Abnormality of movement	2581	GALC	ORPHA:206448
HP:0100022	Abnormality of movement	4125	MAN2B1	OMIM:248500
HP:0100022	Abnormality of movement	80224	NUBPL	OMIM:618242
HP:0100022	Abnormality of movement	4547	MTTP	ORPHA:14
HP:0100022	Abnormality of movement	5611	DNAJC3	OMIM:616192
HP:0100022	Abnormality of movement	5611	DNAJC3	ORPHA:445062
HP:0100022	Abnormality of movement	80821	DDHD1	ORPHA:101008
HP:0100022	Abnormality of movement	80821	DDHD1	OMIM:609340
HP:0100022	Abnormality of movement	2705	GJB1	OMIM:302800
HP:0100022	Abnormality of movement	2705	GJB1	ORPHA:1175
HP:0100022	Abnormality of movement	1200	TPP1	OMIM:609270
HP:0100022	Abnormality of movement	1200	TPP1	ORPHA:284324
HP:0100022	Abnormality of movement	84668	HYCC1	OMIM:610532
HP:0100022	Abnormality of movement	2892	GRIA3	ORPHA:364028
HP:0100022	Abnormality of movement	9927	MFN2	OMIM:609260
HP:0100022	Abnormality of movement	9927	MFN2	ORPHA:99947
HP:0100022	Abnormality of movement	3839	KPNA3	OMIM:620106
HP:0100022	Abnormality of movement	3839	KPNA3	ORPHA:171612
HP:0100022	Abnormality of movement	538	ATP7A	OMIM:309400
HP:0100022	Abnormality of movement	22978	NT5C2	ORPHA:320396
HP:0100022	Abnormality of movement	22978	NT5C2	OMIM:613162
HP:0100022	Abnormality of movement	5375	PMP2	OMIM:618279
HP:0100022	Abnormality of movement	6472	SHMT2	OMIM:619121
HP:0100022	Abnormality of movement	6253	RTN2	OMIM:604805
HP:0100022	Abnormality of movement	6253	RTN2	ORPHA:100993
HP:0100022	Abnormality of movement	5173	PDYN	ORPHA:101108
HP:0100022	Abnormality of movement	5173	PDYN	OMIM:610245
HP:0100022	Abnormality of movement	26278	SACS	OMIM:270550
HP:0100022	Abnormality of movement	26278	SACS	ORPHA:98
HP:0100022	Abnormality of movement	8139	GAN	ORPHA:643
HP:0100022	Abnormality of movement	54936	ADPRS	OMIM:618170
HP:0100022	Abnormality of movement	84842	HPDL	OMIM:619027
HP:0100022	Abnormality of movement	9131	AIFM1	OMIM:300232
HP:0100022	Abnormality of movement	9131	AIFM1	ORPHA:83629
HP:0100022	Abnormality of movement	51218	GLRX5	ORPHA:401866
HP:0100022	Abnormality of movement	51218	GLRX5	OMIM:616859
HP:0100022	Abnormality of movement	80055	PGAP1	OMIM:615802
HP:0100022	Abnormality of movement	80055	PGAP1	ORPHA:401820
HP:0100022	Abnormality of movement	25778	DSTYK	OMIM:270750
HP:0100022	Abnormality of movement	51324	SPG21	OMIM:248900
HP:0100022	Abnormality of movement	116228	COX20	OMIM:619054
HP:0100022	Abnormality of movement	118813	ZFYVE27	OMIM:610244
HP:0100022	Abnormality of movement	55157	DARS2	ORPHA:137898
HP:0100022	Abnormality of movement	55157	DARS2	OMIM:611105
HP:0100022	Abnormality of movement	823	CAPN1	OMIM:616907
HP:0100022	Abnormality of movement	823	CAPN1	ORPHA:488594
HP:0100022	Abnormality of movement	22	ABCB7	OMIM:301310
HP:0100022	Abnormality of movement	100303755	PET117	OMIM:619063
HP:0100022	Abnormality of movement	26090	ABHD12	OMIM:612674
HP:0100022	Abnormality of movement	144165	PRICKLE1	OMIM:612437
HP:0100022	Abnormality of movement	90624	LYRM7	OMIM:615838
HP:0100022	Abnormality of movement	23503	ZFYVE26	OMIM:270700
HP:0100022	Abnormality of movement	23503	ZFYVE26	ORPHA:100996
HP:0100022	Abnormality of movement	9409	PEX16	OMIM:614877
HP:0100022	Abnormality of movement	8242	KDM5C	OMIM:300534
HP:0100022	Abnormality of movement	644096	SDHAF1	ORPHA:3208
HP:0100022	Abnormality of movement	3329	HSPD1	OMIM:605280
HP:0100022	Abnormality of movement	3329	HSPD1	ORPHA:100994
HP:0100022	Abnormality of movement	3329	HSPD1	OMIM:612233
HP:0100022	Abnormality of movement	3954	LETM1	OMIM:620089
HP:0100022	Abnormality of movement	80207	OPA3	OMIM:258501
HP:0100022	Abnormality of movement	51308	REEP2	OMIM:615625
HP:0100022	Abnormality of movement	4976	OPA1	OMIM:210000
HP:0100022	Abnormality of movement	9420	CYP7B1	ORPHA:100986
HP:0100022	Abnormality of movement	9420	CYP7B1	OMIM:270800
HP:0100022	Abnormality of movement	2258	FGF13	OMIM:301058
HP:0100022	Abnormality of movement	9150	CTDP1	OMIM:604168
HP:0100022	Abnormality of movement	1644	DDC	OMIM:608643
HP:0100022	Abnormality of movement	84679	SLC9A7	OMIM:301024
HP:0100022	Abnormality of movement	51741	WWOX	OMIM:614322
HP:0100022	Abnormality of movement	91137	SLC25A46	OMIM:616505
HP:0100022	Abnormality of movement	22948	CCT5	ORPHA:139578
HP:0100022	Abnormality of movement	22948	CCT5	OMIM:256840
HP:0100022	Abnormality of movement	57570	TRMT5	OMIM:616539
HP:0100022	Abnormality of movement	9215	LARGE1	OMIM:608840
HP:0100022	Abnormality of movement	22943	DKK1	ORPHA:268882
HP:0100022	Abnormality of movement	8086	AAAS	OMIM:231550
HP:0100022	Abnormality of movement	51663	ZFR	ORPHA:401840
HP:0100022	Abnormality of movement	84706	GPT2	ORPHA:477673
HP:0100022	Abnormality of movement	7305	TYROBP	OMIM:221770
HP:0100022	Abnormality of movement	221927	BRAT1	OMIM:614498
HP:0100022	Abnormality of movement	54820	NDE1	OMIM:614019
HP:0100022	Abnormality of movement	4337	MOCS1	OMIM:252150
HP:0100022	Abnormality of movement	4338	MOCS2	OMIM:252160
HP:0100022	Abnormality of movement	9213	XPR1	OMIM:616413
HP:0100022	Abnormality of movement	54112	GPR88	OMIM:616939
HP:0100022	Abnormality of movement	23499	MACF1	ORPHA:572013
HP:0100022	Abnormality of movement	23499	MACF1	OMIM:618325
HP:0100022	Abnormality of movement	5119	CHMP1A	OMIM:614961
HP:0100022	Abnormality of movement	59345	GNB4	OMIM:615185
HP:0100022	Abnormality of movement	55958	KLHL9	ORPHA:399081
HP:0100022	Abnormality of movement	3977	LIFR	OMIM:601559
HP:0100022	Abnormality of movement	3977	LIFR	ORPHA:3206
HP:0100022	Abnormality of movement	8988	HSPB3	OMIM:613376
HP:0100022	Abnormality of movement	7453	WARS1	OMIM:617721
HP:0100022	Abnormality of movement	8912	CACNA1H	ORPHA:64280
HP:0100022	Abnormality of movement	8629	JRK	ORPHA:64280
HP:0100022	Abnormality of movement	3786	KCNQ3	ORPHA:307
HP:0100022	Abnormality of movement	22858	CILK1	ORPHA:307
HP:0100022	Abnormality of movement	404672	GTF2H5	ORPHA:33364
HP:0100022	Abnormality of movement	2068	ERCC2	ORPHA:33364
HP:0100022	Abnormality of movement	7737	RNF113A	ORPHA:33364
HP:0100022	Abnormality of movement	136647	MPLKIP	ORPHA:33364
HP:0100022	Abnormality of movement	6897	TARS1	ORPHA:33364
HP:0100022	Abnormality of movement	2071	ERCC3	ORPHA:33364
HP:0100022	Abnormality of movement	2961	GTF2E2	ORPHA:33364
HP:0100022	Abnormality of movement	8604	SLC25A12	OMIM:612949
HP:0100022	Abnormality of movement	6606	SMN1	OMIM:253400
HP:0100022	Abnormality of movement	6607	SMN2	OMIM:253400
HP:0100022	Abnormality of movement	38	ACAT1	ORPHA:134
HP:0100022	Abnormality of movement	1807	DPYS	OMIM:222748
HP:0100022	Abnormality of movement	203228	C9orf72	OMIM:105550
HP:0100022	Abnormality of movement	59341	TRPV4	ORPHA:86820
HP:0100022	Abnormality of movement	58494	JAM2	OMIM:618824
HP:0100022	Abnormality of movement	8575	PRKRA	OMIM:612067
HP:0100022	Abnormality of movement	3615	IMPDH2	ORPHA:98808
HP:0100022	Abnormality of movement	9256	TSPOAP1	ORPHA:101150
HP:0100022	Abnormality of movement	7054	TH	ORPHA:101150
HP:0100022	Abnormality of movement	3208	HPCA	ORPHA:99657
HP:0100022	Abnormality of movement	6821	SUOX	OMIM:272300
HP:0100022	Abnormality of movement	60	ACTB	ORPHA:79107
HP:0100022	Abnormality of movement	60	ACTB	OMIM:607371
HP:0100022	Abnormality of movement	64432	MRPS25	OMIM:619025
HP:0100022	Abnormality of movement	84909	AOPEP	OMIM:619565
HP:0100022	Abnormality of movement	51506	UFC1	OMIM:618076
HP:0100022	Abnormality of movement	2617	GARS1	OMIM:619042
HP:0100022	Abnormality of movement	1785	DNM2	OMIM:160150
HP:0100022	Abnormality of movement	1785	DNM2	ORPHA:169189
HP:0100022	Abnormality of movement	64419	MTMR14	OMIM:160150
HP:0100022	Abnormality of movement	64419	MTMR14	ORPHA:169189
HP:0100022	Abnormality of movement	6305	SBF1	OMIM:615284
HP:0100022	Abnormality of movement	2992	GYG1	OMIM:616199
HP:0100022	Abnormality of movement	1073	CFL2	OMIM:610687
HP:0100022	Abnormality of movement	274	BIN1	ORPHA:169189
HP:0100022	Abnormality of movement	4618	MYF6	ORPHA:169189
HP:0100022	Abnormality of movement	8314	BAP1	ORPHA:2495
HP:0100022	Abnormality of movement	4771	NF2	ORPHA:2495
HP:0100022	Abnormality of movement	84231	TRAF7	ORPHA:2495
HP:0100022	Abnormality of movement	6608	SMO	ORPHA:2495
HP:0100022	Abnormality of movement	207	AKT1	ORPHA:2495
HP:0100022	Abnormality of movement	7015	TERT	ORPHA:2495
HP:0100022	Abnormality of movement	6605	SMARCE1	ORPHA:2495
HP:0100022	Abnormality of movement	3155	HMGCL	ORPHA:20
HP:0100022	Abnormality of movement	959	CD40LG	OMIM:308230
HP:0100022	Abnormality of movement	65055	REEP1	OMIM:614751
HP:0100022	Abnormality of movement	79784	MYH14	OMIM:614369
HP:0100022	Abnormality of movement	3032	HADHB	ORPHA:746
HP:0100022	Abnormality of movement	3030	HADHA	ORPHA:746
HP:0100022	Abnormality of movement	11155	LDB3	ORPHA:98912
HP:0100022	Abnormality of movement	4625	MYH7	ORPHA:437572
HP:0100022	Abnormality of movement	1778	DYNC1H1	OMIM:158600
HP:0100022	Abnormality of movement	10079	ATP9A	OMIM:620242
HP:0100022	Abnormality of movement	6548	SLC9A1	OMIM:616291
HP:0100022	Abnormality of movement	1293	COL6A3	OMIM:616411
HP:0100022	Abnormality of movement	1293	COL6A3	ORPHA:464440
HP:0100022	Abnormality of movement	2774	GNAL	OMIM:615073
HP:0100022	Abnormality of movement	2774	GNAL	ORPHA:329466
HP:0100022	Abnormality of movement	4700	NDUFA6	OMIM:618253
HP:0100022	Abnormality of movement	154881	KCTD7	ORPHA:263516
HP:0100022	Abnormality of movement	6095	RORA	OMIM:618060
HP:0100022	Abnormality of movement	3747	KCNC2	OMIM:619913
HP:0100022	Abnormality of movement	6096	RORB	OMIM:618357
HP:0100022	Abnormality of movement	6529	SLC6A1	OMIM:616421
HP:0100022	Abnormality of movement	1719	DHFR	OMIM:613839
HP:0100022	Abnormality of movement	1303	COL12A1	OMIM:616471
HP:0100022	Abnormality of movement	11011	TLK2	OMIM:618050
HP:0100022	Abnormality of movement	55181	SMG8	OMIM:619268
HP:0100022	Abnormality of movement	4128	MAOA	OMIM:300615
HP:0100022	Abnormality of movement	63929	XPNPEP3	OMIM:613159
HP:0100022	Abnormality of movement	100996717	NOTCH2NLC	OMIM:618866
HP:0100022	Abnormality of movement	84919	PPP1R15B	OMIM:616817
HP:0100022	Abnormality of movement	10531	PITRM1	OMIM:619405
HP:0100022	Abnormality of movement	3748	KCNC3	ORPHA:98768
HP:0100022	Abnormality of movement	5521	PPP2R2B	ORPHA:98762
HP:0100022	Abnormality of movement	3708	ITPR1	ORPHA:98769
HP:0100022	Abnormality of movement	4311	MME	OMIM:617018
HP:0100022	Abnormality of movement	65217	PCDH15	OMIM:602083
HP:0100022	Abnormality of movement	55343	SLC35C1	ORPHA:99843
HP:0100022	Abnormality of movement	4137	MAPT	ORPHA:240094
HP:0100022	Abnormality of movement	4929	NR4A2	OMIM:619911
HP:0100022	Abnormality of movement	487	ATP2A1	OMIM:601003
HP:0100022	Abnormality of movement	26011	TENM4	OMIM:616736
HP:0100022	Abnormality of movement	4604	MYBPC1	OMIM:618524
HP:0100022	Abnormality of movement	1280	COL2A1	ORPHA:166011
HP:0100022	Abnormality of movement	3798	KIF5A	ORPHA:100991
HP:0100022	Abnormality of movement	5741	PTH	OMIM:146200
HP:0100022	Abnormality of movement	5575	PRKAR1B	OMIM:619680
HP:0100022	Abnormality of movement	27327	TNRC6A	OMIM:618074
HP:0100022	Abnormality of movement	9693	RAPGEF2	OMIM:618075
HP:0100022	Abnormality of movement	10060	ABCC9	OMIM:619719
HP:0100022	Abnormality of movement	5238	PGM3	ORPHA:443811
HP:0100022	Abnormality of movement	5238	PGM3	OMIM:615816
HP:0100022	Abnormality of movement	2767	GNA11	ORPHA:428
HP:0100022	Abnormality of movement	846	CASR	ORPHA:428
HP:0100022	Abnormality of movement	5888	RAD51	ORPHA:238722
HP:0100022	Abnormality of movement	10126	DNAL4	ORPHA:238722
HP:0100022	Abnormality of movement	9423	NTN1	ORPHA:238722
HP:0100022	Abnormality of movement	1630	DCC	ORPHA:238722
HP:0100022	Abnormality of movement	776	CACNA1D	OMIM:615474
HP:0100022	Abnormality of movement	776	CACNA1D	ORPHA:369929
HP:0100022	Abnormality of movement	26053	AUTS2	OMIM:615834
HP:0100022	Abnormality of movement	26053	AUTS2	ORPHA:352490
HP:0100022	Abnormality of movement	51692	CPSF3	OMIM:619876
HP:0100022	Abnormality of movement	4897	NRCAM	OMIM:619833
HP:0100022	Abnormality of movement	3425	IDUA	ORPHA:93474
HP:0100022	Abnormality of movement	3425	IDUA	ORPHA:93473
HP:0100022	Abnormality of movement	1776	DNASE1L3	ORPHA:36412
HP:0100022	Abnormality of movement	347733	TUBB2B	ORPHA:1766
HP:0100022	Abnormality of movement	124997	WDR81	ORPHA:1766
HP:0100022	Abnormality of movement	767	CA8	ORPHA:1766
HP:0100022	Abnormality of movement	26047	CNTNAP2	ORPHA:163681
HP:0100022	Abnormality of movement	51611	DPH5	OMIM:620070
HP:0100022	Abnormality of movement	23291	FBXW11	OMIM:618914
HP:0100022	Abnormality of movement	6598	SMARCB1	ORPHA:99966
HP:0100022	Abnormality of movement	2811	GP1BA	ORPHA:853
HP:0100022	Abnormality of movement	2812	GP1BB	ORPHA:853
HP:0100022	Abnormality of movement	3674	ITGA2B	ORPHA:853
HP:0100022	Abnormality of movement	3673	ITGA2	ORPHA:853
HP:0100022	Abnormality of movement	135228	CD109	ORPHA:853
HP:0100022	Abnormality of movement	3690	ITGB3	ORPHA:853
HP:0100022	Abnormality of movement	54941	RNF125	OMIM:616260
HP:0100022	Abnormality of movement	5624	PROC	OMIM:612304
HP:0100022	Abnormality of movement	23189	KANK1	OMIM:612900
HP:0100022	Abnormality of movement	84081	NSRP1	OMIM:620001
HP:0100022	Abnormality of movement	64087	MCCC2	OMIM:210210
HP:0100022	Abnormality of movement	83550	GPR101	ORPHA:963
HP:0100022	Abnormality of movement	9049	AIP	ORPHA:963
HP:0100022	Abnormality of movement	3248	HPGD	ORPHA:2796
HP:0100022	Abnormality of movement	6578	SLCO2A1	ORPHA:2796
HP:0100022	Abnormality of movement	4860	PNP	ORPHA:760
HP:0100022	Abnormality of movement	8884	SLC5A6	OMIM:618973
HP:0100022	Abnormality of movement	1641	DCX	ORPHA:2148
HP:0100022	Abnormality of movement	23152	CIC	OMIM:617600
HP:0100022	Abnormality of movement	3418	IDH2	ORPHA:163634
HP:0100022	Abnormality of movement	3417	IDH1	ORPHA:163634
HP:0100022	Abnormality of movement	5092	PCBD1	ORPHA:1578
HP:0100022	Abnormality of movement	4558	MT-TF	ORPHA:551
HP:0100022	Abnormality of movement	4549	MT-RNR1	ORPHA:551
HP:0100022	Abnormality of movement	4574	MT-TS1	ORPHA:551
HP:0100022	Abnormality of movement	4575	MT-TS2	ORPHA:551
HP:0100022	Abnormality of movement	4571	MT-TP	ORPHA:551
HP:0100022	Abnormality of movement	4572	MT-TQ	ORPHA:551
HP:0100022	Abnormality of movement	4564	MT-TH	ORPHA:551
HP:0100022	Abnormality of movement	113235	SLC46A1	ORPHA:90045
HP:0100022	Abnormality of movement	10312	TCIRG1	ORPHA:667
HP:0100022	Abnormality of movement	1186	CLCN7	ORPHA:667
HP:0100022	Abnormality of movement	29887	SNX10	ORPHA:667
HP:0100022	Abnormality of movement	8600	TNFSF11	ORPHA:667
HP:0100022	Abnormality of movement	10157	AASS	ORPHA:2203
HP:0100022	Abnormality of movement	4552	MTRR	ORPHA:2169
HP:0100022	Abnormality of movement	4758	NEU1	ORPHA:812
HP:0100022	Abnormality of movement	1185	CLCN6	OMIM:619173
HP:0100022	Abnormality of movement	1757	SARDH	ORPHA:3129
HP:0100022	Abnormality of movement	9326	ZNHIT3	ORPHA:2836
HP:0100022	Abnormality of movement	5080	PAX6	ORPHA:1065
HP:0100022	Abnormality of movement	546	ATRX	ORPHA:847
HP:0100022	Abnormality of movement	7469	NELFA	ORPHA:280
HP:0100022	Abnormality of movement	7468	NSD2	ORPHA:280
HP:0100022	Abnormality of movement	4644	MYO5A	ORPHA:79476
HP:0100022	Abnormality of movement	4644	MYO5A	ORPHA:33445
HP:0100022	Abnormality of movement	116442	RAB39B	ORPHA:2379
HP:0100022	Abnormality of movement	148789	B3GALNT2	ORPHA:588
HP:0100022	Abnormality of movement	79147	FKRP	ORPHA:588
HP:0100022	Abnormality of movement	2218	FKTN	ORPHA:588
HP:0100022	Abnormality of movement	55624	POMGNT1	ORPHA:588
HP:0100022	Abnormality of movement	2232	FDXR	ORPHA:543470
HP:0100022	Abnormality of movement	25782	RAB3GAP2	ORPHA:401830
HP:0100022	Abnormality of movement	55670	PEX26	ORPHA:44
HP:0100022	Abnormality of movement	5824	PEX19	ORPHA:44
HP:0100022	Abnormality of movement	5828	PEX2	ORPHA:44
HP:0100022	Abnormality of movement	8504	PEX3	ORPHA:44
HP:0100022	Abnormality of movement	5190	PEX6	ORPHA:44
HP:0100022	Abnormality of movement	8799	PEX11B	ORPHA:44
HP:0100022	Abnormality of movement	5830	PEX5	ORPHA:44
HP:0100022	Abnormality of movement	5189	PEX1	ORPHA:44
HP:0100022	Abnormality of movement	5193	PEX12	ORPHA:44
HP:0100022	Abnormality of movement	5194	PEX13	ORPHA:44
HP:0100022	Abnormality of movement	5195	PEX14	ORPHA:44
HP:0100022	Abnormality of movement	5192	PEX10	ORPHA:44
HP:0100022	Abnormality of movement	4141	MARS1	ORPHA:401835
HP:0100022	Abnormality of movement	4621	MYH3	ORPHA:2990
HP:0100022	Abnormality of movement	1146	CHRNG	ORPHA:2990
HP:0100022	Abnormality of movement	56922	MCCC1	ORPHA:6
HP:0100022	Abnormality of movement	29960	MRM2	OMIM:618567
HP:0100022	Abnormality of movement	10846	PDE10A	OMIM:616921
HP:0100022	Abnormality of movement	10846	PDE10A	ORPHA:494526
HP:0100022	Abnormality of movement	259232	NALCN	ORPHA:371364
HP:0100022	Abnormality of movement	2778	GNAS	ORPHA:94089
HP:0100022	Abnormality of movement	8675	STX16	ORPHA:94089
HP:0100022	Abnormality of movement	4072	EPCAM	ORPHA:144
HP:0100022	Abnormality of movement	4292	MLH1	ORPHA:144
HP:0100022	Abnormality of movement	5395	PMS2	ORPHA:144
HP:0100022	Abnormality of movement	27030	MLH3	ORPHA:144
HP:0100022	Abnormality of movement	22909	FAN1	ORPHA:144
HP:0100022	Abnormality of movement	7048	TGFBR2	ORPHA:144
HP:0100022	Abnormality of movement	3845	KRAS	ORPHA:144
HP:0100022	Abnormality of movement	5290	PIK3CA	ORPHA:144
HP:0100022	Abnormality of movement	2956	MSH6	ORPHA:144
HP:0100022	Abnormality of movement	5378	PMS1	ORPHA:144
HP:0100022	Abnormality of movement	4436	MSH2	ORPHA:144
HP:0100022	Abnormality of movement	79188	TMEM43	OMIM:604400
HP:0100022	Abnormality of movement	90522	YIF1B	OMIM:619125
HP:0100022	Abnormality of movement	64218	SEMA4A	ORPHA:440437
HP:0100022	Abnormality of movement	657	BMPR1A	ORPHA:440437
HP:0100022	Abnormality of movement	6224	RPS20	ORPHA:440437
HP:0100022	Abnormality of movement	1654	DDX3X	OMIM:300958
HP:0100022	Abnormality of movement	1654	DDX3X	ORPHA:457260
HP:0100022	Abnormality of movement	2562	GABRB3	OMIM:617113
HP:0100022	Abnormality of movement	8120	AP3B2	OMIM:617276
HP:0100022	Abnormality of movement	8120	AP3B2	ORPHA:442835
HP:0100022	Abnormality of movement	23219	FBXO28	OMIM:619777
HP:0100022	Abnormality of movement	64802	NMNAT1	OMIM:619260
HP:0100022	Abnormality of movement	26100	WIPI2	OMIM:618453
HP:0100022	Abnormality of movement	1468	SLC25A10	OMIM:618972
HP:0100022	Abnormality of movement	22868	FASTKD2	OMIM:618855
HP:0100022	Abnormality of movement	3737	KCNA2	ORPHA:442835
HP:0100022	Abnormality of movement	51343	FZR1	ORPHA:442835
HP:0100022	Abnormality of movement	22906	TRAK1	ORPHA:442835
HP:0100022	Abnormality of movement	2566	GABRG2	ORPHA:442835
HP:0100022	Abnormality of movement	1917	EEF1A2	ORPHA:442835
HP:0100022	Abnormality of movement	8831	SYNGAP1	ORPHA:442835
HP:0100022	Abnormality of movement	7532	YWHAG	ORPHA:442835
HP:0100022	Abnormality of movement	2558	GABRA5	ORPHA:442835
HP:0100022	Abnormality of movement	2906	GRIN2D	ORPHA:442835
HP:0100022	Abnormality of movement	116150	NUS1	ORPHA:442835
HP:0100022	Abnormality of movement	23334	SZT2	ORPHA:442835
HP:0100022	Abnormality of movement	348980	HCN1	ORPHA:442835
HP:0100022	Abnormality of movement	3745	KCNB1	ORPHA:442835
HP:0100022	Abnormality of movement	25977	NECAP1	ORPHA:442835
HP:0100022	Abnormality of movement	22866	CNKSR2	ORPHA:442835
HP:0100022	Abnormality of movement	26999	CYFIP2	ORPHA:442835
HP:0100022	Abnormality of movement	23097	CDK19	ORPHA:442835
HP:0100022	Abnormality of movement	5530	PPP3CA	ORPHA:442835
HP:0100022	Abnormality of movement	175	AGA	ORPHA:93
HP:0100022	Abnormality of movement	90417	KNSTRN	OMIM:613328
HP:0100022	Abnormality of movement	5293	PIK3CD	OMIM:613328
HP:0100022	Abnormality of movement	64374	SIL1	ORPHA:559
HP:0100022	Abnormality of movement	51763	INPP5K	ORPHA:559
HP:0100022	Abnormality of movement	3704	ITPA	OMIM:616647
HP:0100022	Abnormality of movement	6638	SNRPN	OMIM:105830
HP:0100022	Abnormality of movement	9578	CDC42BPB	OMIM:619841
HP:0100023	Recurrent hand flapping	7337	UBE3A	ORPHA:98794
HP:0100023	Recurrent hand flapping	7337	UBE3A	ORPHA:411511
HP:0100023	Recurrent hand flapping	4948	OCA2	ORPHA:98794
HP:0100023	Recurrent hand flapping	1725	DHPS	OMIM:618480
HP:0100023	Recurrent hand flapping	55777	MBD5	OMIM:156200
HP:0100023	Recurrent hand flapping	83696	TRAPPC9	OMIM:613192
HP:0100023	Recurrent hand flapping	340533	NEXMIF	OMIM:300912
HP:0100023	Recurrent hand flapping	8812	CCNK	OMIM:618147
HP:0100023	Recurrent hand flapping	2332	FMR1	ORPHA:449291
HP:0100023	Recurrent hand flapping	2332	FMR1	OMIM:300624
HP:0100023	Recurrent hand flapping	2334	AFF2	OMIM:309548
HP:0100023	Recurrent hand flapping	2334	AFF2	ORPHA:100973
HP:0100023	Recurrent hand flapping	23316	CUX2	OMIM:618141
HP:0100023	Recurrent hand flapping	57680	CHD8	OMIM:615032
HP:0100023	Recurrent hand flapping	8831	SYNGAP1	ORPHA:544254
HP:0100023	Recurrent hand flapping	51126	NAA20	OMIM:619717
HP:0100023	Recurrent hand flapping	8924	HERC2	OMIM:615516
HP:0100023	Recurrent hand flapping	118987	PDZD8	OMIM:620021
HP:0100023	Recurrent hand flapping	2898	GRIK2	OMIM:619580
HP:0100023	Recurrent hand flapping	5575	PRKAR1B	OMIM:619680
HP:0100023	Recurrent hand flapping	1457	CSNK2A1	OMIM:617062
HP:0100023	Recurrent hand flapping	122553	TRAPPC6B	OMIM:617862
HP:0100023	Recurrent hand flapping	80816	ASXL3	OMIM:615485
HP:0100023	Recurrent hand flapping	80816	ASXL3	ORPHA:352577
HP:0100023	Recurrent hand flapping	57520	HECW2	OMIM:617268
HP:0100023	Recurrent hand flapping	53335	BCL11A	OMIM:617101
HP:0100023	Recurrent hand flapping	3188	HNRNPH2	OMIM:300986
HP:0100023	Recurrent hand flapping	51111	KMT5B	OMIM:617788
HP:0100023	Recurrent hand flapping	23152	CIC	OMIM:617600
HP:0100023	Recurrent hand flapping	4858	NOVA2	OMIM:618859
HP:0100023	Recurrent hand flapping	9568	GABBR2	OMIM:617903
HP:0100023	Recurrent hand flapping	23097	CDK19	OMIM:618916
HP:0100024	Conspicuously happy disposition	23314	SATB2	ORPHA:251019
HP:0100024	Conspicuously happy disposition	284058	KANSL1	OMIM:610443
HP:0100024	Conspicuously happy disposition	259232	NALCN	ORPHA:371364
HP:0100024	Conspicuously happy disposition	285175	UNC80	ORPHA:371364
HP:0100024	Conspicuously happy disposition	25942	SIN3A	OMIM:613406
HP:0100024	Conspicuously happy disposition	10479	SLC9A6	ORPHA:85278
HP:0100024	Conspicuously happy disposition	3188	HNRNPH2	OMIM:300986
HP:0100025	Overfriendliness	283489	CHAMP1	OMIM:616579
HP:0100025	Overfriendliness	6595	SMARCA2	OMIM:619293
HP:0100025	Overfriendliness	83479	DDX59	OMIM:174300
HP:0100025	Overfriendliness	6804	STX1A	ORPHA:904
HP:0100025	Overfriendliness	7461	CLIP2	ORPHA:904
HP:0100025	Overfriendliness	84277	DNAJC30	ORPHA:904
HP:0100025	Overfriendliness	8468	FKBP6	ORPHA:904
HP:0100025	Overfriendliness	5982	RFC2	ORPHA:904
HP:0100025	Overfriendliness	2969	GTF2I	ORPHA:904
HP:0100025	Overfriendliness	3984	LIMK1	ORPHA:904
HP:0100025	Overfriendliness	9569	GTF2IRD1	ORPHA:904
HP:0100025	Overfriendliness	155382	VPS37D	ORPHA:904
HP:0100025	Overfriendliness	155368	METTL27	ORPHA:904
HP:0100025	Overfriendliness	114049	BUD23	ORPHA:904
HP:0100025	Overfriendliness	7458	EIF4H	ORPHA:904
HP:0100025	Overfriendliness	84163	GTF2IRD2	ORPHA:904
HP:0100025	Overfriendliness	9275	BCL7B	ORPHA:904
HP:0100025	Overfriendliness	26608	TBL2	ORPHA:904
HP:0100025	Overfriendliness	653361	NCF1	ORPHA:904
HP:0100025	Overfriendliness	135886	TMEM270	ORPHA:904
HP:0100025	Overfriendliness	51085	MLXIPL	ORPHA:904
HP:0100025	Overfriendliness	9031	BAZ1B	ORPHA:904
HP:0100025	Overfriendliness	2006	ELN	ORPHA:904
HP:0100025	Overfriendliness	284058	KANSL1	ORPHA:363965
HP:0100025	Overfriendliness	284058	KANSL1	ORPHA:363958
HP:0100025	Overfriendliness	23389	MED13L	ORPHA:369891
HP:0100025	Overfriendliness	5283	PIGH	OMIM:618010
HP:0100025	Overfriendliness	23126	POGZ	OMIM:616364
HP:0100028	Ectopic thyroid	3977	LIFR	ORPHA:3206
HP:0100028	Ectopic thyroid	1482	NKX2-5	OMIM:225250
HP:0100028	Ectopic thyroid	1482	NKX2-5	ORPHA:95712
HP:0100028	Ectopic thyroid	7849	PAX8	OMIM:218700
HP:0100028	Ectopic thyroid	7849	PAX8	ORPHA:95712
HP:0100028	Ectopic thyroid	23522	KAT6B	ORPHA:3047
HP:0100026	Arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0100026	Arteriovenous malformation	3845	KRAS	OMIM:108010
HP:0100026	Arteriovenous malformation	3569	IL6	OMIM:108010
HP:0100026	Arteriovenous malformation	1281	COL3A1	ORPHA:286
HP:0100026	Arteriovenous malformation	1277	COL1A1	ORPHA:287
HP:0100026	Arteriovenous malformation	1289	COL5A1	ORPHA:287
HP:0100026	Arteriovenous malformation	1290	COL5A2	ORPHA:287
HP:0100026	Arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0100026	Arteriovenous malformation	2022	ENG	OMIM:187300
HP:0100026	Arteriovenous malformation	857	CAV1	OMIM:606721
HP:0100026	Arteriovenous malformation	4089	SMAD4	OMIM:175050
HP:0100026	Arteriovenous malformation	875	CBS	ORPHA:394
HP:0100026	Arteriovenous malformation	11146	GLMN	ORPHA:83454
HP:0100026	Arteriovenous malformation	9508	ADAMTS3	ORPHA:2136
HP:0100026	Arteriovenous malformation	147372	CCBE1	ORPHA:2136
HP:0100026	Arteriovenous malformation	79633	FAT4	ORPHA:2136
HP:0100026	Arteriovenous malformation	5290	PIK3CA	ORPHA:60040
HP:0100026	Arteriovenous malformation	5728	PTEN	ORPHA:109
HP:0100026	Arteriovenous malformation	5728	PTEN	ORPHA:744
HP:0100026	Arteriovenous malformation	5728	PTEN	ORPHA:137608
HP:0100026	Arteriovenous malformation	672	BRCA1	ORPHA:84
HP:0100026	Arteriovenous malformation	10459	MAD2L2	ORPHA:84
HP:0100026	Arteriovenous malformation	7516	XRCC2	ORPHA:84
HP:0100026	Arteriovenous malformation	29089	UBE2T	ORPHA:84
HP:0100026	Arteriovenous malformation	675	BRCA2	ORPHA:84
HP:0100026	Arteriovenous malformation	55120	FANCL	ORPHA:84
HP:0100026	Arteriovenous malformation	2177	FANCD2	ORPHA:84
HP:0100026	Arteriovenous malformation	2175	FANCA	ORPHA:84
HP:0100026	Arteriovenous malformation	2187	FANCB	ORPHA:84
HP:0100026	Arteriovenous malformation	2176	FANCC	ORPHA:84
HP:0100026	Arteriovenous malformation	2178	FANCE	ORPHA:84
HP:0100026	Arteriovenous malformation	2188	FANCF	ORPHA:84
HP:0100026	Arteriovenous malformation	2189	FANCG	ORPHA:84
HP:0100026	Arteriovenous malformation	5888	RAD51	ORPHA:84
HP:0100026	Arteriovenous malformation	5889	RAD51C	ORPHA:84
HP:0100026	Arteriovenous malformation	55159	RFWD3	ORPHA:84
HP:0100026	Arteriovenous malformation	83990	BRIP1	ORPHA:84
HP:0100026	Arteriovenous malformation	57697	FANCM	ORPHA:84
HP:0100026	Arteriovenous malformation	79728	PALB2	ORPHA:84
HP:0100026	Arteriovenous malformation	84464	SLX4	ORPHA:84
HP:0100026	Arteriovenous malformation	2072	ERCC4	ORPHA:84
HP:0100026	Arteriovenous malformation	55215	FANCI	ORPHA:84
HP:0100026	Arteriovenous malformation	2776	GNAQ	ORPHA:624
HP:0100026	Arteriovenous malformation	207	AKT1	ORPHA:744
HP:0100026	Arteriovenous malformation	2990	GUSB	ORPHA:584
HP:0100026	Arteriovenous malformation	7010	TEK	ORPHA:1059
HP:0100026	Arteriovenous malformation	3110	MNX1	ORPHA:1552
HP:0100026	Arteriovenous malformation	3516	RBPJ	ORPHA:974
HP:0100026	Arteriovenous malformation	4851	NOTCH1	ORPHA:974
HP:0100026	Arteriovenous malformation	57514	ARHGAP31	ORPHA:974
HP:0100026	Arteriovenous malformation	57572	DOCK6	ORPHA:974
HP:0100026	Arteriovenous malformation	285203	EOGT	ORPHA:974
HP:0100026	Arteriovenous malformation	54567	DLL4	ORPHA:974
HP:0100026	Arteriovenous malformation	2767	GNA11	ORPHA:1556
HP:0100026	Arteriovenous malformation	151188	ARL6IP6	ORPHA:1556
HP:0100026	Arteriovenous malformation	2658	GDF2	ORPHA:774
HP:0100026	Arteriovenous malformation	2050	EPHB4	ORPHA:137667
HP:0100026	Arteriovenous malformation	2050	EPHB4	ORPHA:1053
HP:0100026	Arteriovenous malformation	55109	AGGF1	ORPHA:90308
HP:0100027	Recurrent pancreatitis	79577	CDC73	OMIM:145001
HP:0100027	Recurrent pancreatitis	857	CAV1	OMIM:606721
HP:0100027	Recurrent pancreatitis	4558	MT-TF	ORPHA:550
HP:0100027	Recurrent pancreatitis	4572	MT-TQ	ORPHA:550
HP:0100027	Recurrent pancreatitis	4512	MT-CO1	ORPHA:550
HP:0100027	Recurrent pancreatitis	4513	MT-CO2	ORPHA:550
HP:0100027	Recurrent pancreatitis	4514	MT-CO3	ORPHA:550
HP:0100027	Recurrent pancreatitis	4578	MT-TW	ORPHA:550
HP:0100027	Recurrent pancreatitis	4540	MT-ND5	ORPHA:550
HP:0100027	Recurrent pancreatitis	4541	MT-ND6	ORPHA:550
HP:0100027	Recurrent pancreatitis	4535	MT-ND1	ORPHA:550
HP:0100027	Recurrent pancreatitis	4538	MT-ND4	ORPHA:550
HP:0100027	Recurrent pancreatitis	4567	MT-TL1	ORPHA:550
HP:0100027	Recurrent pancreatitis	4574	MT-TS1	ORPHA:550
HP:0100027	Recurrent pancreatitis	4575	MT-TS2	ORPHA:550
HP:0100027	Recurrent pancreatitis	4564	MT-TH	ORPHA:550
HP:0100027	Recurrent pancreatitis	2642	GCGR	OMIM:619290
HP:0100027	Recurrent pancreatitis	57003	CCDC47	OMIM:618268
HP:0100027	Recurrent pancreatitis	338328	GPIHBP1	OMIM:615947
HP:0100027	Recurrent pancreatitis	11330	CTRC	ORPHA:676
HP:0100027	Recurrent pancreatitis	5644	PRSS1	ORPHA:676
HP:0100027	Recurrent pancreatitis	5645	PRSS2	ORPHA:676
HP:0100027	Recurrent pancreatitis	6690	SPINK1	ORPHA:676
HP:0100027	Recurrent pancreatitis	846	CASR	ORPHA:676
HP:0100027	Recurrent pancreatitis	1080	CFTR	ORPHA:676
HP:0100027	Recurrent pancreatitis	1357	CPA1	ORPHA:676
HP:0002810	Dumbbell-shaped metaphyses	59341	TRPV4	OMIM:156530
HP:0010580	Enlarged epiphyses	7421	VDR	OMIM:277440
HP:0010580	Enlarged epiphyses	120227	CYP2R1	OMIM:600081
HP:0010580	Enlarged epiphyses	1594	CYP27B1	OMIM:264700
HP:0010580	Enlarged epiphyses	1184	CLCN5	OMIM:300554
HP:0010580	Enlarged epiphyses	1184	CLCN5	OMIM:300009
HP:0010580	Enlarged epiphyses	142680	SLC34A3	OMIM:241530
HP:0010580	Enlarged epiphyses	8838	CCN6	ORPHA:1159
HP:0010580	Enlarged epiphyses	8838	CCN6	OMIM:208230
HP:0010580	Enlarged epiphyses	1300	COL10A1	OMIM:156500
HP:0010580	Enlarged epiphyses	8200	GDF5	OMIM:113100
HP:0010580	Enlarged epiphyses	6399	TRAPPC2	ORPHA:93284
HP:0010580	Enlarged epiphyses	1280	COL2A1	ORPHA:485
HP:0010580	Enlarged epiphyses	1302	COL11A2	OMIM:184840
HP:0010580	Enlarged epiphyses	25839	COG4	OMIM:618150
HP:0010580	Enlarged epiphyses	5295	PIK3R1	OMIM:269880
HP:0010580	Enlarged epiphyses	150468	CKAP2L	ORPHA:3255
HP:0010580	Enlarged epiphyses	579	NKX3-2	OMIM:613330
HP:0005084	Anterior radial head dislocation	387733	IFITM5	OMIM:610967
HP:0100031	Neoplasm of the thyroid gland	4437	MSH3	ORPHA:480536
HP:0100031	Neoplasm of the thyroid gland	4437	MSH3	OMIM:617100
HP:0100031	Neoplasm of the thyroid gland	201163	FLCN	ORPHA:122
HP:0100031	Neoplasm of the thyroid gland	4221	MEN1	ORPHA:652
HP:0100031	Neoplasm of the thyroid gland	1027	CDKN1B	ORPHA:652
HP:0100031	Neoplasm of the thyroid gland	1026	CDKN1A	ORPHA:652
HP:0100031	Neoplasm of the thyroid gland	1030	CDKN2B	ORPHA:652
HP:0100031	Neoplasm of the thyroid gland	1031	CDKN2C	ORPHA:652
HP:0100031	Neoplasm of the thyroid gland	355	FAS	ORPHA:3261
HP:0100031	Neoplasm of the thyroid gland	356	FASLG	ORPHA:3261
HP:0100031	Neoplasm of the thyroid gland	5580	PRKCD	ORPHA:3261
HP:0100031	Neoplasm of the thyroid gland	843	CASP10	ORPHA:3261
HP:0100031	Neoplasm of the thyroid gland	10125	RASGRP1	ORPHA:3261
HP:0100031	Neoplasm of the thyroid gland	79577	CDC73	ORPHA:143
HP:0100031	Neoplasm of the thyroid gland	79577	CDC73	ORPHA:99880
HP:0100031	Neoplasm of the thyroid gland	26585	GREM1	ORPHA:157794
HP:0100031	Neoplasm of the thyroid gland	657	BMPR1A	ORPHA:157794
HP:0100031	Neoplasm of the thyroid gland	5728	PTEN	ORPHA:109
HP:0100031	Neoplasm of the thyroid gland	3766	KCNJ10	ORPHA:705
HP:0100031	Neoplasm of the thyroid gland	3766	KCNJ10	OMIM:274600
HP:0100031	Neoplasm of the thyroid gland	2299	FOXI1	ORPHA:705
HP:0100031	Neoplasm of the thyroid gland	2299	FOXI1	OMIM:274600
HP:0100031	Neoplasm of the thyroid gland	5172	SLC26A4	ORPHA:705
HP:0100031	Neoplasm of the thyroid gland	5172	SLC26A4	OMIM:274600
HP:0100031	Neoplasm of the thyroid gland	9817	KEAP1	ORPHA:276399
HP:0100031	Neoplasm of the thyroid gland	7486	WRN	ORPHA:902
HP:0100031	Neoplasm of the thyroid gland	7038	TG	OMIM:274700
HP:0100031	Neoplasm of the thyroid gland	7157	TP53	ORPHA:524
HP:0100031	Neoplasm of the thyroid gland	1029	CDKN2A	ORPHA:524
HP:0100031	Neoplasm of the thyroid gland	4193	MDM2	ORPHA:524
HP:0100031	Neoplasm of the thyroid gland	11200	CHEK2	ORPHA:524
HP:0100031	Neoplasm of the thyroid gland	23405	DICER1	OMIM:138800
HP:0100031	Neoplasm of the thyroid gland	7080	NKX2-1	OMIM:188550
HP:0100031	Neoplasm of the thyroid gland	4893	NRAS	OMIM:188470
HP:0100031	Neoplasm of the thyroid gland	57522	SRGAP1	OMIM:188470
HP:0100031	Neoplasm of the thyroid gland	9562	MINPP1	OMIM:188470
HP:0100031	Neoplasm of the thyroid gland	9562	MINPP1	ORPHA:319487
HP:0100031	Neoplasm of the thyroid gland	3265	HRAS	OMIM:188470
HP:0100031	Neoplasm of the thyroid gland	2304	FOXE1	OMIM:616534
HP:0100031	Neoplasm of the thyroid gland	2304	FOXE1	ORPHA:319487
HP:0100031	Neoplasm of the thyroid gland	6597	SMARCA4	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6598	SMARCB1	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6659	SOX4	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	8289	ARID1A	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	5977	DPF2	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6601	SMARCC2	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6602	SMARCD1	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	57492	ARID1B	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	196528	ARID2	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6605	SMARCE1	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	6664	SOX11	ORPHA:1465
HP:0100031	Neoplasm of the thyroid gland	10483	SEC23B	OMIM:616858
HP:0100031	Neoplasm of the thyroid gland	182	JAG1	OMIM:118450
HP:0100031	Neoplasm of the thyroid gland	324	APC	ORPHA:99818
HP:0100031	Neoplasm of the thyroid gland	324	APC	OMIM:175100
HP:0100031	Neoplasm of the thyroid gland	324	APC	ORPHA:247806
HP:0100031	Neoplasm of the thyroid gland	324	APC	ORPHA:79665
HP:0100031	Neoplasm of the thyroid gland	3026	HABP2	ORPHA:319487
HP:0100031	Neoplasm of the thyroid gland	5573	PRKAR1A	ORPHA:1359
HP:0100031	Neoplasm of the thyroid gland	50940	PDE11A	ORPHA:1359
HP:0100031	Neoplasm of the thyroid gland	64218	SEMA4A	ORPHA:440437
HP:0100031	Neoplasm of the thyroid gland	6224	RPS20	ORPHA:440437
HP:0100031	Neoplasm of the thyroid gland	4072	EPCAM	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	4292	MLH1	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	5395	PMS2	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	27030	MLH3	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	22909	FAN1	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	7048	TGFBR2	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	3845	KRAS	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	5290	PIK3CA	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	5290	PIK3CA	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	2956	MSH6	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	5378	PMS1	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	4436	MSH2	ORPHA:144
HP:0100031	Neoplasm of the thyroid gland	215	ABCD1	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	5979	RET	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	2668	GDNF	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	6608	SMO	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	1889	ECE1	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	6720	SREBF1	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	1908	EDN3	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	223117	SEMA3D	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	538	ATP7A	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	1910	EDNRB	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	10512	SEMA3C	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	2064	ERBB2	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	2065	ERBB3	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	4902	NRTN	ORPHA:388
HP:0100031	Neoplasm of the thyroid gland	6390	SDHB	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	6392	SDHD	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	6391	SDHC	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	207	AKT1	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	205717	USF3	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	100144748	KLLN	ORPHA:201
HP:0100031	Neoplasm of the thyroid gland	4000	LMNA	ORPHA:79474
HP:0010701	Abnormal immunoglobulin level	83737	ITCH	OMIM:613385
HP:0010701	Abnormal immunoglobulin level	3117	HLA-DQA1	OMIM:212750
HP:0010701	Abnormal immunoglobulin level	3119	HLA-DQB1	OMIM:212750
HP:0010701	Abnormal immunoglobulin level	2475	MTOR	ORPHA:457485
HP:0010701	Abnormal immunoglobulin level	2475	MTOR	OMIM:616638
HP:0010701	Abnormal immunoglobulin level	284119	CAVIN1	OMIM:613327
HP:0010701	Abnormal immunoglobulin level	57511	COG6	OMIM:614576
HP:0010701	Abnormal immunoglobulin level	84061	MAGT1	OMIM:300853
HP:0010701	Abnormal immunoglobulin level	51604	PIGT	ORPHA:369837
HP:0010701	Abnormal immunoglobulin level	5336	PLCG2	OMIM:614878
HP:0010701	Abnormal immunoglobulin level	28956	LAMTOR2	OMIM:610798
HP:0010701	Abnormal immunoglobulin level	23387	SIK3	OMIM:618162
HP:0010701	Abnormal immunoglobulin level	5426	POLE	OMIM:615139
HP:0010701	Abnormal immunoglobulin level	4683	NBN	OMIM:251260
HP:0010701	Abnormal immunoglobulin level	6499	SKIC2	ORPHA:84064
HP:0010701	Abnormal immunoglobulin level	833	CARS1	ORPHA:33364
HP:0010701	Abnormal immunoglobulin level	136647	MPLKIP	ORPHA:33364
HP:0010701	Abnormal immunoglobulin level	6897	TARS1	ORPHA:33364
HP:0010701	Abnormal immunoglobulin level	2071	ERCC3	ORPHA:33364
HP:0010701	Abnormal immunoglobulin level	2961	GTF2E2	ORPHA:33364
HP:0010701	Abnormal immunoglobulin level	64170	CARD9	OMIM:212050
HP:0010701	Abnormal immunoglobulin level	7454	WAS	OMIM:301000
HP:0010701	Abnormal immunoglobulin level	7454	WAS	OMIM:313900
HP:0010701	Abnormal immunoglobulin level	1041	CDSN	ORPHA:90368
HP:0010701	Abnormal immunoglobulin level	1041	CDSN	OMIM:270300
HP:0010701	Abnormal immunoglobulin level	121391	KRT74	ORPHA:90368
HP:0010701	Abnormal immunoglobulin level	6777	STAT5B	OMIM:618985
HP:0010701	Abnormal immunoglobulin level	50943	FOXP3	OMIM:304790
HP:0010701	Abnormal immunoglobulin level	50943	FOXP3	ORPHA:37042
HP:0010701	Abnormal immunoglobulin level	3857	KRT9	OMIM:144200
HP:0010701	Abnormal immunoglobulin level	6774	STAT3	OMIM:147060
HP:0010701	Abnormal immunoglobulin level	6774	STAT3	ORPHA:2314
HP:0010701	Abnormal immunoglobulin level	1294	COL7A1	ORPHA:89843
HP:0010701	Abnormal immunoglobulin level	7297	TYK2	OMIM:611521
HP:0010701	Abnormal immunoglobulin level	51135	IRAK4	OMIM:607676
HP:0010701	Abnormal immunoglobulin level	84905	ZNF341	OMIM:618282
HP:0010701	Abnormal immunoglobulin level	2239	GPC4	ORPHA:373
HP:0010701	Abnormal immunoglobulin level	2719	GPC3	ORPHA:373
HP:0010701	Abnormal immunoglobulin level	7941	PLA2G7	OMIM:147050
HP:0010701	Abnormal immunoglobulin level	50615	IL21R	OMIM:147050
HP:0010701	Abnormal immunoglobulin level	3566	IL4R	OMIM:147050
HP:0010701	Abnormal immunoglobulin level	2206	MS4A2	OMIM:147050
HP:0010701	Abnormal immunoglobulin level	1956	EGFR	OMIM:616069
HP:0010701	Abnormal immunoglobulin level	84433	CARD11	OMIM:617638
HP:0010701	Abnormal immunoglobulin level	6868	ADAM17	OMIM:614328
HP:0010701	Abnormal immunoglobulin level	56160	NSMCE3	OMIM:617241
HP:0010701	Abnormal immunoglobulin level	1828	DSG1	OMIM:615508
HP:0010701	Abnormal immunoglobulin level	3559	IL2RA	OMIM:606367
HP:0010701	Abnormal immunoglobulin level	3071	NCKAP1L	OMIM:618982
HP:0010701	Abnormal immunoglobulin level	595	CCND1	ORPHA:29073
HP:0010701	Abnormal immunoglobulin level	29775	CARD10	OMIM:619632
HP:0010701	Abnormal immunoglobulin level	51371	POMP	OMIM:618048
HP:0010701	Abnormal immunoglobulin level	10526	IPO8	OMIM:619472
HP:0010701	Abnormal immunoglobulin level	5238	PGM3	ORPHA:443811
HP:0010701	Abnormal immunoglobulin level	5238	PGM3	OMIM:615816
HP:0010701	Abnormal immunoglobulin level	340061	STING1	OMIM:615934
HP:0010701	Abnormal immunoglobulin level	3575	IL7R	ORPHA:169154
HP:0010701	Abnormal immunoglobulin level	81704	DOCK8	OMIM:243700
HP:0010701	Abnormal immunoglobulin level	7040	TGFB1	OMIM:618213
HP:0010701	Abnormal immunoglobulin level	7174	TPP2	OMIM:619220
HP:0010701	Abnormal immunoglobulin level	22861	NLRP1	OMIM:617388
HP:0010701	Abnormal immunoglobulin level	3560	IL2RB	OMIM:618495
HP:0010701	Abnormal immunoglobulin level	3459	IFNGR1	OMIM:209950
HP:0010701	Abnormal immunoglobulin level	5696	PSMB8	OMIM:256040
HP:0010701	Abnormal immunoglobulin level	404672	GTF2H5	OMIM:616395
HP:0010701	Abnormal immunoglobulin level	2859	GPR35	ORPHA:171
HP:0010701	Abnormal immunoglobulin level	10507	SEMA4D	ORPHA:171
HP:0010701	Abnormal immunoglobulin level	4485	MST1	ORPHA:171
HP:0010701	Abnormal immunoglobulin level	6925	TCF4	ORPHA:171
HP:0010701	Abnormal immunoglobulin level	200942	KLHDC8B	OMIM:236000
HP:0010701	Abnormal immunoglobulin level	90268	OTULIN	OMIM:617099
HP:0010701	Abnormal immunoglobulin level	3594	IL12RB1	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	23534	TNPO3	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	3592	IL12A	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	6689	SPIB	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	5450	POU2AF1	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	9966	TNFSF15	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	79258	MMEL1	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	3663	IRF5	ORPHA:186
HP:0010701	Abnormal immunoglobulin level	10159	ATP6AP2	OMIM:301045
HP:0010701	Abnormal immunoglobulin level	83483	PLVAP	OMIM:618183
HP:0010701	Abnormal immunoglobulin level	51750	RTEL1	OMIM:615190
HP:0010701	Abnormal immunoglobulin level	3551	IKBKB	OMIM:615592
HP:0010701	Abnormal immunoglobulin level	5728	PTEN	OMIM:605309
HP:0010701	Abnormal immunoglobulin level	5728	PTEN	OMIM:158350
HP:0010701	Abnormal immunoglobulin level	100151683	RNU4ATAC	ORPHA:353298
HP:0010701	Abnormal immunoglobulin level	8737	RIPK1	OMIM:618108
HP:0010701	Abnormal immunoglobulin level	113235	SLC46A1	ORPHA:90045
HP:0010701	Abnormal immunoglobulin level	2316	FLNA	ORPHA:99811
HP:0010701	Abnormal immunoglobulin level	5551	PRF1	ORPHA:540
HP:0010701	Abnormal immunoglobulin level	8676	STX11	ORPHA:540
HP:0010701	Abnormal immunoglobulin level	201294	UNC13D	ORPHA:540
HP:0010701	Abnormal immunoglobulin level	6813	STXBP2	ORPHA:540
HP:0010701	Abnormal immunoglobulin level	6813	STXBP2	OMIM:613101
HP:0010701	Abnormal immunoglobulin level	4522	MTHFD1	OMIM:617780
HP:0010701	Abnormal immunoglobulin level	939	CD27	OMIM:615122
HP:0010701	Abnormal immunoglobulin level	10525	HYOU1	OMIM:233600
HP:0010701	Abnormal immunoglobulin level	4790	NFKB1	OMIM:616576
HP:0010701	Abnormal immunoglobulin level	4790	NFKB1	ORPHA:1572
HP:0010701	Abnormal immunoglobulin level	114803	MYSM1	OMIM:618116
HP:0010701	Abnormal immunoglobulin level	79840	NHEJ1	ORPHA:169079
HP:0010701	Abnormal immunoglobulin level	5994	RFXAP	ORPHA:572
HP:0010701	Abnormal immunoglobulin level	4261	CIITA	ORPHA:572
HP:0010701	Abnormal immunoglobulin level	5993	RFX5	ORPHA:572
HP:0010701	Abnormal immunoglobulin level	8625	RFXANK	ORPHA:572
HP:0010701	Abnormal immunoglobulin level	6023	RMRP	ORPHA:175
HP:0010701	Abnormal immunoglobulin level	7037	TFRC	OMIM:616740
HP:0010701	Abnormal immunoglobulin level	4125	MAN2B1	OMIM:248500
HP:0010701	Abnormal immunoglobulin level	10111	RAD50	OMIM:613078
HP:0010701	Abnormal immunoglobulin level	9839	ZEB2	ORPHA:261552
HP:0010701	Abnormal immunoglobulin level	9839	ZEB2	ORPHA:261537
HP:0010701	Abnormal immunoglobulin level	4478	MSN	OMIM:300988
HP:0010701	Abnormal immunoglobulin level	3070	HELLS	ORPHA:2268
HP:0010701	Abnormal immunoglobulin level	3070	HELLS	OMIM:616911
HP:0010701	Abnormal immunoglobulin level	1789	DNMT3B	ORPHA:2268
HP:0010701	Abnormal immunoglobulin level	83879	CDCA7	ORPHA:2268
HP:0010701	Abnormal immunoglobulin level	83879	CDCA7	OMIM:616910
HP:0010701	Abnormal immunoglobulin level	10320	IKZF1	OMIM:616873
HP:0010701	Abnormal immunoglobulin level	8742	TNFSF12	ORPHA:1572
HP:0010701	Abnormal immunoglobulin level	970	CD70	OMIM:618261
HP:0010701	Abnormal immunoglobulin level	57217	TTC7A	OMIM:243150
HP:0010701	Abnormal immunoglobulin level	51095	TRNT1	OMIM:616084
HP:0010701	Abnormal immunoglobulin level	9508	ADAMTS3	ORPHA:2136
HP:0010701	Abnormal immunoglobulin level	147372	CCBE1	ORPHA:2136
HP:0010701	Abnormal immunoglobulin level	79633	FAT4	ORPHA:2136
HP:0010701	Abnormal immunoglobulin level	3507	IGHM	OMIM:601495
HP:0010701	Abnormal immunoglobulin level	493856	CISD2	OMIM:604928
HP:0010701	Abnormal immunoglobulin level	8915	BCL10	OMIM:616098
HP:0010701	Abnormal immunoglobulin level	4780	NFE2L2	OMIM:617744
HP:0010701	Abnormal immunoglobulin level	51816	ADA2	OMIM:615688
HP:0010701	Abnormal immunoglobulin level	6117	RPA1	OMIM:619767
HP:0010701	Abnormal immunoglobulin level	10165	SLC25A13	ORPHA:247598
HP:0010701	Abnormal immunoglobulin level	4938	OAS1	OMIM:618042
HP:0010701	Abnormal immunoglobulin level	7157	TP53	OMIM:618165
HP:0010701	Abnormal immunoglobulin level	9652	SKIC3	OMIM:222470
HP:0010701	Abnormal immunoglobulin level	27040	LAT	OMIM:617514
HP:0010701	Abnormal immunoglobulin level	9939	RBM8A	OMIM:274000
HP:0010701	Abnormal immunoglobulin level	1604	CD55	OMIM:226300
HP:0010701	Abnormal immunoglobulin level	3852	KRT5	ORPHA:79396
HP:0010701	Abnormal immunoglobulin level	3861	KRT14	ORPHA:79396
HP:0010701	Abnormal immunoglobulin level	219285	SAMD9L	ORPHA:2585
HP:0010701	Abnormal immunoglobulin level	204	AK2	ORPHA:33355
HP:0010701	Abnormal immunoglobulin level	2137	EXTL3	ORPHA:508533
HP:0010701	Abnormal immunoglobulin level	3561	IL2RG	ORPHA:276
HP:0010701	Abnormal immunoglobulin level	3561	IL2RG	OMIM:312863
HP:0010701	Abnormal immunoglobulin level	3561	IL2RG	OMIM:300400
HP:0010701	Abnormal immunoglobulin level	355	FAS	ORPHA:3261
HP:0010701	Abnormal immunoglobulin level	356	FASLG	ORPHA:3261
HP:0010701	Abnormal immunoglobulin level	5580	PRKCD	ORPHA:3261
HP:0010701	Abnormal immunoglobulin level	843	CASP10	ORPHA:3261
HP:0010701	Abnormal immunoglobulin level	10125	RASGRP1	ORPHA:3261
HP:0010701	Abnormal immunoglobulin level	10125	RASGRP1	OMIM:618534
HP:0010701	Abnormal immunoglobulin level	64421	DCLRE1C	ORPHA:275
HP:0010701	Abnormal immunoglobulin level	695	BTK	OMIM:300755
HP:0010701	Abnormal immunoglobulin level	10043	TOM1	OMIM:619510
HP:0010701	Abnormal immunoglobulin level	3572	IL6ST	OMIM:619752
HP:0010701	Abnormal immunoglobulin level	3702	ITK	OMIM:613011
HP:0010701	Abnormal immunoglobulin level	115650	TNFRSF13C	OMIM:613494
HP:0010701	Abnormal immunoglobulin level	115650	TNFRSF13C	OMIM:240500
HP:0010701	Abnormal immunoglobulin level	5295	PIK3R1	OMIM:616005
HP:0010701	Abnormal immunoglobulin level	9841	ZBTB24	OMIM:614069
HP:0010701	Abnormal immunoglobulin level	5880	RAC2	OMIM:618986
HP:0010701	Abnormal immunoglobulin level	5880	RAC2	OMIM:618987
HP:0010701	Abnormal immunoglobulin level	3932	LCK	OMIM:615758
HP:0010701	Abnormal immunoglobulin level	6948	TCN2	OMIM:275350
HP:0010701	Abnormal immunoglobulin level	6948	TCN2	ORPHA:859
HP:0010701	Abnormal immunoglobulin level	3570	IL6R	OMIM:618944
HP:0010701	Abnormal immunoglobulin level	987	LRBA	OMIM:614700
HP:0010701	Abnormal immunoglobulin level	8517	IKBKG	OMIM:301081
HP:0010701	Abnormal immunoglobulin level	54440	SASH3	OMIM:301082
HP:0010701	Abnormal immunoglobulin level	959	CD40LG	OMIM:308230
HP:0010701	Abnormal immunoglobulin level	4796	TONSL	OMIM:271510
HP:0010701	Abnormal immunoglobulin level	4247	MGAT2	ORPHA:79329
HP:0010701	Abnormal immunoglobulin level	7555	CNBP	OMIM:602668
HP:0010701	Abnormal immunoglobulin level	1457	CSNK2A1	OMIM:617062
HP:0010701	Abnormal immunoglobulin level	57379	AICDA	OMIM:605258
HP:0010701	Abnormal immunoglobulin level	374354	NHLRC2	OMIM:618278
HP:0010701	Abnormal immunoglobulin level	60468	BACH2	OMIM:618394
HP:0010701	Abnormal immunoglobulin level	974	CD79B	OMIM:612692
HP:0010701	Abnormal immunoglobulin level	5788	PTPRC	OMIM:619924
HP:0010701	Abnormal immunoglobulin level	11005	SPINK5	OMIM:256500
HP:0010701	Abnormal immunoglobulin level	641	BLM	OMIM:210900
HP:0010701	Abnormal immunoglobulin level	641	BLM	ORPHA:125
HP:0010701	Abnormal immunoglobulin level	841	CASP8	OMIM:607271
HP:0010701	Abnormal immunoglobulin level	472	ATM	OMIM:208900
HP:0010701	Abnormal immunoglobulin level	59067	IL21	OMIM:615767
HP:0010701	Abnormal immunoglobulin level	29760	BLNK	OMIM:613502
HP:0010701	Abnormal immunoglobulin level	5294	PIK3CG	OMIM:619802
HP:0010701	Abnormal immunoglobulin level	7841	MOGS	ORPHA:79330
HP:0010701	Abnormal immunoglobulin level	3718	JAK3	ORPHA:35078
HP:0010701	Abnormal immunoglobulin level	331	XIAP	OMIM:308240
HP:0010701	Abnormal immunoglobulin level	4068	SH2D1A	OMIM:308240
HP:0010701	Abnormal immunoglobulin level	29851	ICOS	OMIM:607594
HP:0010701	Abnormal immunoglobulin level	29851	ICOS	OMIM:240500
HP:0010701	Abnormal immunoglobulin level	7298	TYMS	OMIM:620040
HP:0010701	Abnormal immunoglobulin level	57724	EPG5	OMIM:242840
HP:0010701	Abnormal immunoglobulin level	57724	EPG5	ORPHA:1493
HP:0010701	Abnormal immunoglobulin level	915	CD3D	ORPHA:169160
HP:0010701	Abnormal immunoglobulin level	916	CD3E	ORPHA:169160
HP:0010701	Abnormal immunoglobulin level	919	CD247	ORPHA:169160
HP:0010701	Abnormal immunoglobulin level	65082	VPS33A	ORPHA:505248
HP:0010701	Abnormal immunoglobulin level	5966	REL	OMIM:619652
HP:0010701	Abnormal immunoglobulin level	55687	TRMU	OMIM:613070
HP:0010701	Abnormal immunoglobulin level	23495	TNFRSF13B	OMIM:240500
HP:0010701	Abnormal immunoglobulin level	930	CD19	OMIM:240500
HP:0010701	Abnormal immunoglobulin level	3978	LIG1	OMIM:619774
HP:0010701	Abnormal immunoglobulin level	6651	SON	ORPHA:500150
HP:0010701	Abnormal immunoglobulin level	1493	CTLA4	OMIM:616100
HP:0010701	Abnormal immunoglobulin level	4791	NFKB2	OMIM:615577
HP:0010701	Abnormal immunoglobulin level	7852	CXCR4	OMIM:193670
HP:0010701	Abnormal immunoglobulin level	5896	RAG1	ORPHA:331206
HP:0010701	Abnormal immunoglobulin level	5896	RAG1	OMIM:233650
HP:0010701	Abnormal immunoglobulin level	5897	RAG2	ORPHA:331206
HP:0010701	Abnormal immunoglobulin level	5897	RAG2	OMIM:233650
HP:0010701	Abnormal immunoglobulin level	8792	TNFRSF11A	OMIM:612301
HP:0010701	Abnormal immunoglobulin level	5557	PRIM1	OMIM:620005
HP:0010701	Abnormal immunoglobulin level	3431	SP110	OMIM:235550
HP:0010701	Abnormal immunoglobulin level	79087	ALG12	OMIM:607143
HP:0010701	Abnormal immunoglobulin level	51311	TLR8	OMIM:301078
HP:0010701	Abnormal immunoglobulin level	2068	ERCC2	OMIM:601675
HP:0010701	Abnormal immunoglobulin level	7374	UNG	OMIM:608106
HP:0010701	Abnormal immunoglobulin level	958	CD40	OMIM:606843
HP:0010701	Abnormal immunoglobulin level	567	B2M	OMIM:241600
HP:0010701	Abnormal immunoglobulin level	8884	SLC5A6	OMIM:618973
HP:0010701	Abnormal immunoglobulin level	96459	FNIP1	OMIM:619705
HP:0010701	Abnormal immunoglobulin level	359948	IRF2BP2	OMIM:617765
HP:0010701	Abnormal immunoglobulin level	6688	SPI1	OMIM:619707
HP:0010701	Abnormal immunoglobulin level	9138	ARHGEF1	OMIM:618459
HP:0010701	Abnormal immunoglobulin level	84888	SPPL2A	OMIM:619549
HP:0010701	Abnormal immunoglobulin level	6929	TCF3	OMIM:619824
HP:0010701	Abnormal immunoglobulin level	165918	RNF168	OMIM:611943
HP:0010701	Abnormal immunoglobulin level	165918	RNF168	ORPHA:420741
HP:0010701	Abnormal immunoglobulin level	8883	NAE1	OMIM:620210
HP:0010701	Abnormal immunoglobulin level	5373	PMM2	OMIM:212065
HP:0010701	Abnormal immunoglobulin level	7922	SLC39A7	OMIM:619693
HP:0010701	Abnormal immunoglobulin level	1678	TIMM8A	ORPHA:52368
HP:0010701	Abnormal immunoglobulin level	973	CD79A	OMIM:613501
HP:0010701	Abnormal immunoglobulin level	973	CD79A	ORPHA:33110
HP:0010701	Abnormal immunoglobulin level	3543	IGLL1	OMIM:613500
HP:0010701	Abnormal immunoglobulin level	3543	IGLL1	ORPHA:33110
HP:0010701	Abnormal immunoglobulin level	56262	LRRC8A	OMIM:613506
HP:0010701	Abnormal immunoglobulin level	56262	LRRC8A	ORPHA:33110
HP:0010701	Abnormal immunoglobulin level	100	ADA	OMIM:102700
HP:0010701	Abnormal immunoglobulin level	56259	CTNNBL1	OMIM:619846
HP:0010701	Abnormal immunoglobulin level	4615	MYD88	ORPHA:33226
HP:0010701	Abnormal immunoglobulin level	4615	MYD88	OMIM:153600
HP:0010701	Abnormal immunoglobulin level	84876	ORAI1	OMIM:612782
HP:0010701	Abnormal immunoglobulin level	6786	STIM1	OMIM:612783
HP:0010701	Abnormal immunoglobulin level	940	CD28	ORPHA:3162
HP:0010701	Abnormal immunoglobulin level	7133	TNFRSF1B	ORPHA:3162
HP:0010701	Abnormal immunoglobulin level	50485	SMARCAL1	OMIM:242900
HP:0010701	Abnormal immunoglobulin level	6729	SRP54	OMIM:618752
HP:0010701	Abnormal immunoglobulin level	9056	SLC7A7	ORPHA:470
HP:0010701	Abnormal immunoglobulin level	213	ALB	ORPHA:86816
HP:0010701	Abnormal immunoglobulin level	3845	KRAS	OMIM:614470
HP:0010701	Abnormal immunoglobulin level	4893	NRAS	OMIM:614470
HP:0010701	Abnormal immunoglobulin level	6440	SFTPC	OMIM:178500
HP:0010701	Abnormal immunoglobulin level	727897	MUC5B	OMIM:178500
HP:0010701	Abnormal immunoglobulin level	729238	SFTPA2	OMIM:178500
HP:0010701	Abnormal immunoglobulin level	7015	TERT	OMIM:178500
HP:0010701	Abnormal immunoglobulin level	11311	VPS45	OMIM:615285
HP:0010701	Abnormal immunoglobulin level	5184	PEPD	OMIM:170100
HP:0010701	Abnormal immunoglobulin level	1277	COL1A1	ORPHA:1310
HP:0010701	Abnormal immunoglobulin level	3123	HLA-DRB1	OMIM:181000
HP:0010701	Abnormal immunoglobulin level	5692	PSMB4	OMIM:617591
HP:0010701	Abnormal immunoglobulin level	5698	PSMB9	OMIM:617591
HP:0010701	Abnormal immunoglobulin level	2629	GBA1	ORPHA:77261
HP:0010701	Abnormal immunoglobulin level	2629	GBA1	ORPHA:77259
HP:0010701	Abnormal immunoglobulin level	9051	PSTPIP1	ORPHA:69126
HP:0010701	Abnormal immunoglobulin level	23064	SETX	OMIM:606002
HP:0010701	Abnormal immunoglobulin level	1991	ELANE	OMIM:202700
HP:0010701	Abnormal immunoglobulin level	950	SCARB2	ORPHA:77259
HP:0010701	Abnormal immunoglobulin level	975	CD81	OMIM:613496
HP:0010701	Abnormal immunoglobulin level	1503	CTPS1	OMIM:615897
HP:0010701	Abnormal immunoglobulin level	7535	ZAP70	OMIM:617006
HP:0010701	Abnormal immunoglobulin level	5293	PIK3CD	OMIM:615513
HP:0010701	Abnormal immunoglobulin level	3514	IGKC	ORPHA:183675
HP:0010701	Abnormal immunoglobulin level	3501	IGHG2	ORPHA:183675
HP:0010701	Abnormal immunoglobulin level	3981	LIG4	OMIM:254500
HP:0010701	Abnormal immunoglobulin level	6850	SYK	OMIM:619381
HP:0010701	Abnormal immunoglobulin level	10625	IVNS1ABP	OMIM:618969
HP:0010701	Abnormal immunoglobulin level	537	ATP6AP1	OMIM:300972
HP:0010701	Abnormal immunoglobulin level	90417	KNSTRN	ORPHA:221139
HP:0010701	Abnormal immunoglobulin level	931	MS4A1	OMIM:613495
HP:0010701	Abnormal immunoglobulin level	64135	IFIH1	OMIM:619773
HP:0010701	Abnormal immunoglobulin level	30011	SH3KBP1	OMIM:300310
HP:0010701	Abnormal immunoglobulin level	146206	CARMIL2	OMIM:618131
HP:0010701	Abnormal immunoglobulin level	917	CD3G	OMIM:615607
HP:0010701	Abnormal immunoglobulin level	7737	RNF113A	OMIM:300953
HP:0010701	Abnormal immunoglobulin level	1380	CR2	OMIM:614699
HP:0010701	Abnormal immunoglobulin level	6773	STAT2	OMIM:616636
HP:0010701	Abnormal immunoglobulin level	3394	IRF8	OMIM:226990
HP:0010701	Abnormal immunoglobulin level	4598	MVK	OMIM:260920
HP:0010701	Abnormal immunoglobulin level	4598	MVK	OMIM:610377
HP:0010701	Abnormal immunoglobulin level	55343	SLC35C1	ORPHA:99843
HP:0010701	Abnormal immunoglobulin level	10892	MALT1	OMIM:615468
HP:0010701	Abnormal immunoglobulin level	11151	CORO1A	OMIM:615401
HP:0100033	Tics	22827	PUF60	ORPHA:508488
HP:0100033	Tics	57459	GATAD2B	ORPHA:363686
HP:0100033	Tics	57459	GATAD2B	OMIM:615074
HP:0100033	Tics	26137	ZBTB20	OMIM:259050
HP:0100033	Tics	613	BCR	ORPHA:261330
HP:0100033	Tics	1399	CRKL	ORPHA:261330
HP:0100033	Tics	5594	MAPK1	ORPHA:261330
HP:0100033	Tics	284361	EMC10	OMIM:619264
HP:0100033	Tics	23126	POGZ	OMIM:616364
HP:0100033	Tics	6711	SPTBN1	OMIM:619475
HP:0100033	Tics	57688	ZSWIM6	OMIM:617865
HP:0100033	Tics	51111	KMT5B	OMIM:617788
HP:0100033	Tics	196528	ARID2	OMIM:617808
HP:0100033	Tics	80347	COASY	OMIM:615643
HP:0100033	Tics	22995	CEP152	OMIM:614852
HP:0100033	Tics	2890	GRIA1	OMIM:619927
HP:0100033	Tics	3781	KCNN2	OMIM:619725
HP:0100033	Tics	139411	PTCHD1	OMIM:300830
HP:0100033	Tics	5155	PDGFB	OMIM:615483
HP:0100033	Tics	2782	GNB1	OMIM:616973
HP:0100033	Tics	23230	VPS13A	ORPHA:2388
HP:0100033	Tics	3067	HDC	OMIM:137580
HP:0100033	Tics	114798	SLITRK1	OMIM:137580
HP:0100033	Tics	80025	PANK2	OMIM:234200
HP:0100035	Phonic tics	2782	GNB1	OMIM:616973
HP:0100035	Phonic tics	23230	VPS13A	ORPHA:2388
HP:0100035	Phonic tics	3067	HDC	OMIM:137580
HP:0100035	Phonic tics	114798	SLITRK1	OMIM:137580
HP:0100035	Phonic tics	80025	PANK2	OMIM:234200
HP:0041159	Fractured rib	3930	LBR	OMIM:215140
HP:0041159	Fractured rib	55503	TRPV6	OMIM:618188
HP:0100036	Pseudo-fractures	1758	DMP1	ORPHA:289176
HP:0100036	Pseudo-fractures	5167	ENPP1	ORPHA:289176
HP:0100034	Motor tics	80347	COASY	OMIM:615643
HP:0100034	Motor tics	22995	CEP152	OMIM:614852
HP:0100034	Motor tics	2782	GNB1	OMIM:616973
HP:0100034	Motor tics	23230	VPS13A	ORPHA:2388
HP:0100034	Motor tics	2890	GRIA1	OMIM:619927
HP:0100034	Motor tics	3781	KCNN2	OMIM:619725
HP:0100034	Motor tics	3067	HDC	OMIM:137580
HP:0100034	Motor tics	114798	SLITRK1	OMIM:137580
HP:0100034	Motor tics	139411	PTCHD1	OMIM:300830
HP:0100034	Motor tics	80025	PANK2	OMIM:234200
HP:0100034	Motor tics	5155	PDGFB	OMIM:615483
HP:0100039	Thickened cortex of bones	203859	ANO5	ORPHA:53697
HP:0100039	Thickened cortex of bones	3977	LIFR	ORPHA:3206
HP:0100039	Thickened cortex of bones	3977	LIFR	OMIM:601559
HP:0100039	Thickened cortex of bones	4591	TRIM37	OMIM:253250
HP:0100039	Thickened cortex of bones	4041	LRP5	OMIM:607634
HP:0100039	Thickened cortex of bones	4041	LRP5	OMIM:144750
HP:0100039	Thickened cortex of bones	63901	FAM111A	OMIM:127000
HP:0100039	Thickened cortex of bones	26040	SETBP1	OMIM:269150
HP:0100039	Thickened cortex of bones	4763	NF1	ORPHA:97685
HP:0100039	Thickened cortex of bones	4125	MAN2B1	ORPHA:309282
HP:0100039	Thickened cortex of bones	1277	COL1A1	ORPHA:1310
HP:0100039	Thickened cortex of bones	6905	TBCE	ORPHA:93324
HP:0100039	Thickened cortex of bones	7040	TGFB1	ORPHA:1328
HP:0100039	Thickened cortex of bones	7040	TGFB1	OMIM:131300
HP:0100039	Thickened cortex of bones	50964	SOST	OMIM:269500
HP:0100037	Abnormality of the scalp hair	7291	TWIST1	ORPHA:794
HP:0100037	Abnormality of the scalp hair	7291	TWIST1	OMIM:101400
HP:0100037	Abnormality of the scalp hair	7291	TWIST1	OMIM:617746
HP:0100037	Abnormality of the scalp hair	2263	FGFR2	ORPHA:794
HP:0100037	Abnormality of the scalp hair	2263	FGFR2	OMIM:101400
HP:0100037	Abnormality of the scalp hair	2261	FGFR3	ORPHA:794
HP:0100037	Abnormality of the scalp hair	2261	FGFR3	OMIM:602849
HP:0100037	Abnormality of the scalp hair	11113	CIT	OMIM:617090
HP:0100037	Abnormality of the scalp hair	10128	LRPPRC	OMIM:220111
HP:0100037	Abnormality of the scalp hair	91949	COG7	OMIM:608779
HP:0100037	Abnormality of the scalp hair	25970	SH2B1	ORPHA:261222
HP:0100037	Abnormality of the scalp hair	9131	AIFM1	OMIM:300232
HP:0100037	Abnormality of the scalp hair	6909	TBX2	OMIM:618223
HP:0100037	Abnormality of the scalp hair	23013	SPEN	OMIM:619312
HP:0100037	Abnormality of the scalp hair	8367	H4C5	OMIM:619950
HP:0100037	Abnormality of the scalp hair	117581	TWIST2	OMIM:227260
HP:0100037	Abnormality of the scalp hair	117581	TWIST2	OMIM:209885
HP:0100037	Abnormality of the scalp hair	6885	MAP3K7	OMIM:617137
HP:0100037	Abnormality of the scalp hair	55627	SMPD4	OMIM:618622
HP:0100037	Abnormality of the scalp hair	8818	DPM2	ORPHA:329178
HP:0100037	Abnormality of the scalp hair	7545	ZIC1	OMIM:616602
HP:0100037	Abnormality of the scalp hair	7545	ZIC1	OMIM:618736
HP:0100037	Abnormality of the scalp hair	7518	XRCC4	ORPHA:99812
HP:0100037	Abnormality of the scalp hair	3981	LIG4	ORPHA:99812
HP:0100037	Abnormality of the scalp hair	3981	LIG4	OMIM:606593
HP:0100037	Abnormality of the scalp hair	3981	LIG4	ORPHA:235
HP:0100037	Abnormality of the scalp hair	55209	SETD5	ORPHA:404440
HP:0100037	Abnormality of the scalp hair	55209	SETD5	OMIM:615761
HP:0100037	Abnormality of the scalp hair	57465	TBC1D24	OMIM:220500
HP:0100037	Abnormality of the scalp hair	57465	TBC1D24	ORPHA:79500
HP:0100037	Abnormality of the scalp hair	9578	CDC42BPB	OMIM:619841
HP:0100037	Abnormality of the scalp hair	170302	ARX	OMIM:300004
HP:0100037	Abnormality of the scalp hair	29998	BICRA	OMIM:619325
HP:0100037	Abnormality of the scalp hair	341640	FREM2	OMIM:617666
HP:0100037	Abnormality of the scalp hair	55690	PACS1	OMIM:615009
HP:0100037	Abnormality of the scalp hair	55690	PACS1	ORPHA:329224
HP:0100037	Abnormality of the scalp hair	4081	MAB21L1	OMIM:618479
HP:0100037	Abnormality of the scalp hair	318	NUDT2	OMIM:619844
HP:0100037	Abnormality of the scalp hair	10982	MAPRE2	OMIM:616734
HP:0100037	Abnormality of the scalp hair	55780	ERMARD	ORPHA:75857
HP:0100037	Abnormality of the scalp hair	5934	RBL2	OMIM:619690
HP:0100037	Abnormality of the scalp hair	83999	KREMEN1	OMIM:617392
HP:0100037	Abnormality of the scalp hair	10735	STAG2	OMIM:301022
HP:0100037	Abnormality of the scalp hair	23221	RHOBTB2	OMIM:618004
HP:0100037	Abnormality of the scalp hair	55870	ASH1L	OMIM:617796
HP:0100037	Abnormality of the scalp hair	4125	MAN2B1	OMIM:248500
HP:0100037	Abnormality of the scalp hair	1020	CDK5	OMIM:616342
HP:0100037	Abnormality of the scalp hair	3756	KCNH1	OMIM:135500
HP:0100037	Abnormality of the scalp hair	3756	KCNH1	ORPHA:420561
HP:0100037	Abnormality of the scalp hair	79029	AFG2B	OMIM:619616
HP:0100037	Abnormality of the scalp hair	6597	SMARCA4	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	6598	SMARCB1	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	6659	SOX4	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	8289	ARID1A	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	8289	ARID1A	OMIM:614607
HP:0100037	Abnormality of the scalp hair	5977	DPF2	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	6601	SMARCC2	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	57492	ARID1B	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	196528	ARID2	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	6605	SMARCE1	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	6605	SMARCE1	OMIM:616938
HP:0100037	Abnormality of the scalp hair	6664	SOX11	ORPHA:1465
HP:0100037	Abnormality of the scalp hair	23389	MED13L	ORPHA:369891
HP:0100037	Abnormality of the scalp hair	23065	EMC1	OMIM:616875
HP:0100037	Abnormality of the scalp hair	23065	EMC1	ORPHA:480898
HP:0100037	Abnormality of the scalp hair	128637	TBC1D20	OMIM:615663
HP:0100037	Abnormality of the scalp hair	1954	MEGF8	OMIM:614976
HP:0100037	Abnormality of the scalp hair	3782	KCNN3	OMIM:618658
HP:0100037	Abnormality of the scalp hair	4853	NOTCH2	ORPHA:955
HP:0100037	Abnormality of the scalp hair	57572	DOCK6	OMIM:614219
HP:0100037	Abnormality of the scalp hair	59336	PRDM13	OMIM:619909
HP:0100037	Abnormality of the scalp hair	54888	NSUN2	ORPHA:235
HP:0100037	Abnormality of the scalp hair	9895	TECPR2	OMIM:615031
HP:0100037	Abnormality of the scalp hair	9895	TECPR2	ORPHA:320385
HP:0100037	Abnormality of the scalp hair	157680	VPS13B	ORPHA:193
HP:0100037	Abnormality of the scalp hair	1182	CLCN3	OMIM:619512
HP:0100037	Abnormality of the scalp hair	6938	TCF12	OMIM:615314
HP:0100037	Abnormality of the scalp hair	22931	RAB18	OMIM:614222
HP:0100037	Abnormality of the scalp hair	85440	DOCK7	ORPHA:411986
HP:0100037	Abnormality of the scalp hair	85440	DOCK7	OMIM:615859
HP:0100037	Abnormality of the scalp hair	80036	TRPM3	OMIM:620224
HP:0100037	Abnormality of the scalp hair	8405	SPOP	OMIM:618828
HP:0100037	Abnormality of the scalp hair	526	ATP6V1B2	ORPHA:79500
HP:0100037	Abnormality of the scalp hair	84172	POLR1B	ORPHA:861
HP:0100037	Abnormality of the scalp hair	9533	POLR1C	ORPHA:861
HP:0100037	Abnormality of the scalp hair	51082	POLR1D	ORPHA:861
HP:0100037	Abnormality of the scalp hair	6949	TCOF1	ORPHA:861
HP:0100037	Abnormality of the scalp hair	7204	TRIO	OMIM:617061
HP:0100037	Abnormality of the scalp hair	253959	RALGAPA1	OMIM:618797
HP:0100037	Abnormality of the scalp hair	91875	TTC5	OMIM:619244
HP:0100037	Abnormality of the scalp hair	440138	ALG11	OMIM:613661
HP:0100037	Abnormality of the scalp hair	93587	TRMT10A	ORPHA:391408
HP:0100037	Abnormality of the scalp hair	93587	TRMT10A	OMIM:616033
HP:0100037	Abnormality of the scalp hair	84919	PPP1R15B	ORPHA:391408
HP:0100037	Abnormality of the scalp hair	55343	SLC35C1	ORPHA:99843
HP:0100037	Abnormality of the scalp hair	55691	FRMD4A	OMIM:616819
HP:0100037	Abnormality of the scalp hair	55691	FRMD4A	ORPHA:466688
HP:0100037	Abnormality of the scalp hair	79147	FKRP	OMIM:613153
HP:0100037	Abnormality of the scalp hair	374969	SVBP	OMIM:618569
HP:0100037	Abnormality of the scalp hair	3643	INSR	ORPHA:769
HP:0100037	Abnormality of the scalp hair	4683	NBN	ORPHA:647
HP:0100037	Abnormality of the scalp hair	3339	HSPG2	ORPHA:800
HP:0100037	Abnormality of the scalp hair	6135	RPL11	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6138	RPL15	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6229	RPS24	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6125	RPL5	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6204	RPS10	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6224	RPS20	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6165	RPL35A	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6223	RPS19	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6232	RPS27	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6231	RPS26	ORPHA:124
HP:0100037	Abnormality of the scalp hair	11224	RPL35	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6160	RPL31	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6218	RPS17	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6201	RPS7	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6155	RPL27	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6154	RPL26	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6210	RPS15A	ORPHA:124
HP:0100037	Abnormality of the scalp hair	90121	TSR2	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6141	RPL18	ORPHA:124
HP:0100037	Abnormality of the scalp hair	6235	RPS29	ORPHA:124
HP:0100037	Abnormality of the scalp hair	51816	ADA2	ORPHA:124
HP:0100037	Abnormality of the scalp hair	171023	ASXL1	OMIM:605039
HP:0100037	Abnormality of the scalp hair	672	BRCA1	OMIM:617883
HP:0100037	Abnormality of the scalp hair	6878	TAF6	OMIM:617126
HP:0100037	Abnormality of the scalp hair	9990	SLC12A6	OMIM:218000
HP:0100037	Abnormality of the scalp hair	8092	ALX1	ORPHA:306542
HP:0100037	Abnormality of the scalp hair	55027	HEATR3	OMIM:620072
HP:0100037	Abnormality of the scalp hair	257	ALX3	OMIM:136760
HP:0100037	Abnormality of the scalp hair	257	ALX3	ORPHA:391474
HP:0100037	Abnormality of the scalp hair	4281	MID1	OMIM:300000
HP:0100037	Abnormality of the scalp hair	4281	MID1	ORPHA:2745
HP:0100037	Abnormality of the scalp hair	6857	SYT1	ORPHA:522077
HP:0100037	Abnormality of the scalp hair	10220	GDF11	OMIM:619122
HP:0100037	Abnormality of the scalp hair	473	RERE	OMIM:616975
HP:0100037	Abnormality of the scalp hair	23384	SPECC1L	OMIM:145420
HP:0100037	Abnormality of the scalp hair	23384	SPECC1L	ORPHA:1519
HP:0100037	Abnormality of the scalp hair	22907	DHX30	OMIM:617804
HP:0100037	Abnormality of the scalp hair	6304	SATB1	OMIM:619229
HP:0100037	Abnormality of the scalp hair	4036	LRP2	ORPHA:2143
HP:0100037	Abnormality of the scalp hair	10522	DEAF1	OMIM:615828
HP:0100037	Abnormality of the scalp hair	2316	FLNA	OMIM:304120
HP:0100037	Abnormality of the scalp hair	10466	COG5	ORPHA:263487
HP:0100037	Abnormality of the scalp hair	64132	XYLT2	OMIM:605822
HP:0100037	Abnormality of the scalp hair	64132	XYLT2	ORPHA:85194
HP:0100037	Abnormality of the scalp hair	3479	IGF1	ORPHA:73272
HP:0100037	Abnormality of the scalp hair	324	APC	ORPHA:261584
HP:0100037	Abnormality of the scalp hair	1947	EFNB1	ORPHA:1520
HP:0100037	Abnormality of the scalp hair	1947	EFNB1	OMIM:304110
HP:0100037	Abnormality of the scalp hair	161742	SPRED1	OMIM:611431
HP:0100037	Abnormality of the scalp hair	673	BRAF	OMIM:115150
HP:0100037	Abnormality of the scalp hair	673	BRAF	ORPHA:1340
HP:0100037	Abnormality of the scalp hair	673	BRAF	OMIM:613707
HP:0100037	Abnormality of the scalp hair	673	BRAF	OMIM:613706
HP:0100037	Abnormality of the scalp hair	673	BRAF	OMIM:163950
HP:0100037	Abnormality of the scalp hair	79650	USB1	OMIM:604173
HP:0100037	Abnormality of the scalp hair	10847	SRCAP	OMIM:136140
HP:0100037	Abnormality of the scalp hair	3020	H3-3A	OMIM:619720
HP:0100037	Abnormality of the scalp hair	23030	KDM4B	OMIM:619320
HP:0100037	Abnormality of the scalp hair	5184	PEPD	OMIM:170100
HP:0100037	Abnormality of the scalp hair	4893	NRAS	OMIM:613224
HP:0100037	Abnormality of the scalp hair	4893	NRAS	ORPHA:648
HP:0100037	Abnormality of the scalp hair	65082	VPS33A	OMIM:617303
HP:0100037	Abnormality of the scalp hair	80055	PGAP1	OMIM:615802
HP:0100037	Abnormality of the scalp hair	25782	RAB3GAP2	OMIM:212720
HP:0100037	Abnormality of the scalp hair	25782	RAB3GAP2	ORPHA:1387
HP:0100037	Abnormality of the scalp hair	3764	KCNJ8	ORPHA:1517
HP:0100037	Abnormality of the scalp hair	10060	ABCC9	ORPHA:1517
HP:0100037	Abnormality of the scalp hair	4297	KMT2A	OMIM:605130
HP:0100037	Abnormality of the scalp hair	4763	NF1	OMIM:601321
HP:0100037	Abnormality of the scalp hair	55777	MBD5	OMIM:156200
HP:0100037	Abnormality of the scalp hair	165	AEBP1	OMIM:618000
HP:0100037	Abnormality of the scalp hair	10265	IRX5	OMIM:611174
HP:0100037	Abnormality of the scalp hair	5604	MAP2K1	ORPHA:1340
HP:0100037	Abnormality of the scalp hair	5604	MAP2K1	OMIM:163950
HP:0100037	Abnormality of the scalp hair	5605	MAP2K2	ORPHA:1340
HP:0100037	Abnormality of the scalp hair	3845	KRAS	ORPHA:1340
HP:0100037	Abnormality of the scalp hair	3845	KRAS	ORPHA:648
HP:0100037	Abnormality of the scalp hair	1000	CDH2	OMIM:618929
HP:0100037	Abnormality of the scalp hair	7020	TFAP2A	OMIM:113620
HP:0100037	Abnormality of the scalp hair	7319	UBE2A	OMIM:300860
HP:0100037	Abnormality of the scalp hair	7319	UBE2A	ORPHA:163956
HP:0100037	Abnormality of the scalp hair	10815	CPLX1	ORPHA:280
HP:0100037	Abnormality of the scalp hair	10815	CPLX1	OMIM:194190
HP:0100037	Abnormality of the scalp hair	54872	PIGG	ORPHA:280
HP:0100037	Abnormality of the scalp hair	7469	NELFA	ORPHA:280
HP:0100037	Abnormality of the scalp hair	1487	CTBP1	ORPHA:280
HP:0100037	Abnormality of the scalp hair	1487	CTBP1	OMIM:194190
HP:0100037	Abnormality of the scalp hair	3954	LETM1	ORPHA:280
HP:0100037	Abnormality of the scalp hair	3954	LETM1	OMIM:194190
HP:0100037	Abnormality of the scalp hair	7468	NSD2	ORPHA:280
HP:0100037	Abnormality of the scalp hair	7468	NSD2	OMIM:194190
HP:0100037	Abnormality of the scalp hair	8036	SHOC2	ORPHA:2701
HP:0100037	Abnormality of the scalp hair	5500	PPP1CB	ORPHA:2701
HP:0100037	Abnormality of the scalp hair	5500	PPP1CB	OMIM:617506
HP:0100037	Abnormality of the scalp hair	4854	NOTCH3	ORPHA:2789
HP:0100037	Abnormality of the scalp hair	51729	WBP11	OMIM:619227
HP:0100037	Abnormality of the scalp hair	200734	SPRED2	OMIM:619745
HP:0100037	Abnormality of the scalp hair	200734	SPRED2	ORPHA:648
HP:0100037	Abnormality of the scalp hair	6602	SMARCD1	OMIM:618779
HP:0100037	Abnormality of the scalp hair	53834	FGFRL1	OMIM:194190
HP:0100037	Abnormality of the scalp hair	6234	RPS28	OMIM:606164
HP:0100037	Abnormality of the scalp hair	60	ACTB	OMIM:243310
HP:0100037	Abnormality of the scalp hair	60	ACTB	ORPHA:2995
HP:0100037	Abnormality of the scalp hair	57167	SALL4	ORPHA:233
HP:0100037	Abnormality of the scalp hair	9935	MAFB	ORPHA:233
HP:0100037	Abnormality of the scalp hair	1123	CHN1	ORPHA:233
HP:0100037	Abnormality of the scalp hair	23476	BRD4	ORPHA:199
HP:0100037	Abnormality of the scalp hair	9126	SMC3	ORPHA:199
HP:0100037	Abnormality of the scalp hair	8243	SMC1A	ORPHA:199
HP:0100037	Abnormality of the scalp hair	25836	NIPBL	ORPHA:199
HP:0100037	Abnormality of the scalp hair	25836	NIPBL	OMIM:122470
HP:0100037	Abnormality of the scalp hair	55869	HDAC8	ORPHA:199
HP:0100037	Abnormality of the scalp hair	5885	RAD21	ORPHA:199
HP:0100037	Abnormality of the scalp hair	392255	GDF6	OMIM:118100
HP:0100037	Abnormality of the scalp hair	392255	GDF6	ORPHA:2345
HP:0100037	Abnormality of the scalp hair	1387	CREBBP	OMIM:180849
HP:0100037	Abnormality of the scalp hair	2033	EP300	OMIM:180849
HP:0100037	Abnormality of the scalp hair	29957	SLC25A24	OMIM:612289
HP:0100037	Abnormality of the scalp hair	79005	SCNM1	OMIM:620107
HP:0100037	Abnormality of the scalp hair	4784	NFIX	ORPHA:420179
HP:0100037	Abnormality of the scalp hair	54499	TMCO1	OMIM:213980
HP:0100037	Abnormality of the scalp hair	54499	TMCO1	ORPHA:1394
HP:0100037	Abnormality of the scalp hair	5293	PIK3CD	ORPHA:221139
HP:0100037	Abnormality of the scalp hair	90417	KNSTRN	ORPHA:221139
HP:0100037	Abnormality of the scalp hair	79796	ALG9	ORPHA:79328
HP:0100037	Abnormality of the scalp hair	8567	MADD	OMIM:619004
HP:0100037	Abnormality of the scalp hair	374879	ZNF699	OMIM:619488
HP:0100037	Abnormality of the scalp hair	5594	MAPK1	OMIM:619087
HP:0100037	Abnormality of the scalp hair	28952	CCDC22	OMIM:300963
HP:0100037	Abnormality of the scalp hair	4849	CNOT3	OMIM:618672
HP:0100037	Abnormality of the scalp hair	226	ALDOA	OMIM:611881
HP:0100037	Abnormality of the scalp hair	4222	MEOX1	OMIM:214300
HP:0100037	Abnormality of the scalp hair	4222	MEOX1	ORPHA:2345
HP:0100037	Abnormality of the scalp hair	80267	EDEM3	OMIM:619493
HP:0100037	Abnormality of the scalp hair	9897	WASHC5	OMIM:220210
HP:0100037	Abnormality of the scalp hair	10020	GNE	OMIM:269921
HP:0100037	Abnormality of the scalp hair	5286	PIK3C2A	OMIM:618440
HP:0100037	Abnormality of the scalp hair	738	VPS51	OMIM:618606
HP:0100037	Abnormality of the scalp hair	22930	RAB3GAP1	ORPHA:1387
HP:0100037	Abnormality of the scalp hair	23133	PHF8	ORPHA:85287
HP:0100037	Abnormality of the scalp hair	23133	PHF8	OMIM:300263
HP:0100037	Abnormality of the scalp hair	54187	NANS	OMIM:610442
HP:0100037	Abnormality of the scalp hair	84700	MYO18B	OMIM:616549
HP:0100037	Abnormality of the scalp hair	22800	RRAS2	ORPHA:648
HP:0100037	Abnormality of the scalp hair	867	CBL	ORPHA:648
HP:0100037	Abnormality of the scalp hair	867	CBL	OMIM:613563
HP:0100037	Abnormality of the scalp hair	8216	LZTR1	ORPHA:648
HP:0100037	Abnormality of the scalp hair	8216	LZTR1	OMIM:605275
HP:0100037	Abnormality of the scalp hair	6016	RIT1	ORPHA:648
HP:0100037	Abnormality of the scalp hair	6237	RRAS	ORPHA:648
HP:0100037	Abnormality of the scalp hair	5894	RAF1	ORPHA:648
HP:0100037	Abnormality of the scalp hair	22808	MRAS	ORPHA:648
HP:0100037	Abnormality of the scalp hair	6654	SOS1	ORPHA:648
HP:0100037	Abnormality of the scalp hair	6655	SOS2	ORPHA:648
HP:0100037	Abnormality of the scalp hair	5781	PTPN11	ORPHA:648
HP:0100037	Abnormality of the scalp hair	5781	PTPN11	OMIM:163950
HP:0100037	Abnormality of the scalp hair	5922	RASA2	ORPHA:648
HP:0100037	Abnormality of the scalp hair	4621	MYH3	ORPHA:2990
HP:0100037	Abnormality of the scalp hair	1146	CHRNG	ORPHA:2990
HP:0100037	Abnormality of the scalp hair	5468	PPARG	ORPHA:528
HP:0100037	Abnormality of the scalp hair	10555	AGPAT2	ORPHA:528
HP:0100037	Abnormality of the scalp hair	284119	CAVIN1	ORPHA:528
HP:0100037	Abnormality of the scalp hair	26580	BSCL2	ORPHA:528
HP:0100037	Abnormality of the scalp hair	2353	FOS	ORPHA:528
HP:0100037	Abnormality of the scalp hair	857	CAV1	ORPHA:528
HP:0100037	Abnormality of the scalp hair	6913	TBX15	ORPHA:93333
HP:0100037	Abnormality of the scalp hair	79087	ALG12	ORPHA:79324
HP:0100037	Abnormality of the scalp hair	71	ACTG1	ORPHA:2995
HP:0100037	Abnormality of the scalp hair	9469	CHST3	OMIM:245600
HP:0100037	Abnormality of the scalp hair	26229	B3GAT3	OMIM:245600
HP:0100037	Abnormality of the scalp hair	6595	SMARCA2	OMIM:601358
HP:0100037	Abnormality of the scalp hair	29123	ANKRD11	OMIM:148050
HP:0100037	Abnormality of the scalp hair	8621	CDK13	OMIM:617360
HP:0100037	Abnormality of the scalp hair	9181	ARHGEF2	OMIM:617523
HP:0100037	Abnormality of the scalp hair	9573	GDF3	ORPHA:2345
HP:0100037	Abnormality of the scalp hair	6736	SRY	ORPHA:1772
HP:0100037	Abnormality of the scalp hair	27152	INTU	OMIM:617925
HP:0100037	Abnormality of the scalp hair	10075	HUWE1	OMIM:309590
HP:0100037	Abnormality of the scalp hair	875	CBS	ORPHA:394
HP:0100037	Abnormality of the scalp hair	54084	TSPEAR	OMIM:618180
HP:0100037	Abnormality of the scalp hair	81607	NECTIN4	OMIM:613573
HP:0100037	Abnormality of the scalp hair	100151683	RNU4ATAC	OMIM:210710
HP:0100037	Abnormality of the scalp hair	10054	UBA2	OMIM:619959
HP:0100037	Abnormality of the scalp hair	9759	HDAC4	ORPHA:1001
HP:0100037	Abnormality of the scalp hair	775	CACNA1C	OMIM:620029
HP:0100037	Abnormality of the scalp hair	128178	EDARADD	OMIM:614941
HP:0100037	Abnormality of the scalp hair	4047	LSS	ORPHA:2850
HP:0100037	Abnormality of the scalp hair	4047	LSS	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	197	AHSG	ORPHA:2850
HP:0100037	Abnormality of the scalp hair	3694	ITGB6	ORPHA:2850
HP:0100037	Abnormality of the scalp hair	9401	RECQL4	OMIM:268400
HP:0100037	Abnormality of the scalp hair	9401	RECQL4	OMIM:266280
HP:0100037	Abnormality of the scalp hair	197131	UBR1	OMIM:243800
HP:0100037	Abnormality of the scalp hair	267010	RNU12	OMIM:603116
HP:0100037	Abnormality of the scalp hair	3728	JUP	ORPHA:34217
HP:0100037	Abnormality of the scalp hair	54453	RIN2	ORPHA:217335
HP:0100037	Abnormality of the scalp hair	6144	RPL21	OMIM:615885
HP:0100037	Abnormality of the scalp hair	6144	RPL21	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	4792	NFKBIA	OMIM:612132
HP:0100037	Abnormality of the scalp hair	54345	SOX18	ORPHA:69735
HP:0100037	Abnormality of the scalp hair	54345	SOX18	OMIM:607823
HP:0100037	Abnormality of the scalp hair	54345	SOX18	OMIM:137940
HP:0100037	Abnormality of the scalp hair	1825	DSC3	OMIM:613102
HP:0100037	Abnormality of the scalp hair	4953	ODC1	ORPHA:544488
HP:0100037	Abnormality of the scalp hair	4953	ODC1	OMIM:619075
HP:0100037	Abnormality of the scalp hair	4000	LMNA	OMIM:248370
HP:0100037	Abnormality of the scalp hair	3872	KRT17	OMIM:167210
HP:0100037	Abnormality of the scalp hair	26128	KIFBP	ORPHA:66629
HP:0100037	Abnormality of the scalp hair	4952	OCRL	ORPHA:534
HP:0100037	Abnormality of the scalp hair	84196	USP48	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	7157	TP53	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	9101	USP8	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	64072	CDH23	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	2908	NR3C1	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	546	ATRX	ORPHA:96253
HP:0100037	Abnormality of the scalp hair	23522	KAT6B	OMIM:606170
HP:0100037	Abnormality of the scalp hair	23522	KAT6B	ORPHA:85201
HP:0100037	Abnormality of the scalp hair	81857	MED25	ORPHA:464738
HP:0100037	Abnormality of the scalp hair	1801	DPH1	OMIM:616901
HP:0100037	Abnormality of the scalp hair	1801	DPH1	ORPHA:459061
HP:0100037	Abnormality of the scalp hair	80326	WNT10A	OMIM:257980
HP:0100037	Abnormality of the scalp hair	80326	WNT10A	OMIM:150400
HP:0100037	Abnormality of the scalp hair	79574	EPS8L3	ORPHA:444
HP:0100037	Abnormality of the scalp hair	55806	HR	ORPHA:444
HP:0100037	Abnormality of the scalp hair	7703	PCGF2	OMIM:618371
HP:0100037	Abnormality of the scalp hair	9896	FIG4	ORPHA:3472
HP:0100037	Abnormality of the scalp hair	9896	FIG4	OMIM:216340
HP:0100037	Abnormality of the scalp hair	55697	VAC14	ORPHA:3472
HP:0100037	Abnormality of the scalp hair	4914	NTRK1	OMIM:256800
HP:0100037	Abnormality of the scalp hair	1001	CDH3	ORPHA:1573
HP:0100037	Abnormality of the scalp hair	1001	CDH3	OMIM:225280
HP:0100037	Abnormality of the scalp hair	1001	CDH3	ORPHA:1897
HP:0100037	Abnormality of the scalp hair	1474	CST6	OMIM:618535
HP:0100037	Abnormality of the scalp hair	5116	PCNT	OMIM:210720
HP:0100037	Abnormality of the scalp hair	5116	PCNT	ORPHA:808
HP:0100037	Abnormality of the scalp hair	9419	CRIPT	OMIM:615789
HP:0100037	Abnormality of the scalp hair	79669	C3orf52	OMIM:620177
HP:0100037	Abnormality of the scalp hair	11285	B4GALT7	ORPHA:75496
HP:0100037	Abnormality of the scalp hair	11285	B4GALT7	OMIM:130070
HP:0100037	Abnormality of the scalp hair	8313	AXIN2	OMIM:608615
HP:0100037	Abnormality of the scalp hair	200879	LIPH	OMIM:604379
HP:0100037	Abnormality of the scalp hair	200879	LIPH	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	10526	IPO8	OMIM:619472
HP:0100037	Abnormality of the scalp hair	147183	KRT25	OMIM:616760
HP:0100037	Abnormality of the scalp hair	55651	NHP2	OMIM:224230
HP:0100037	Abnormality of the scalp hair	55505	NOP10	OMIM:224230
HP:0100037	Abnormality of the scalp hair	3122	HLA-DRA	ORPHA:505
HP:0100037	Abnormality of the scalp hair	3675	ITGA3	OMIM:614748
HP:0100037	Abnormality of the scalp hair	2131	EXT1	ORPHA:502
HP:0100037	Abnormality of the scalp hair	7227	TRPS1	ORPHA:502
HP:0100037	Abnormality of the scalp hair	147495	APCDD1	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	147409	DSG4	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	6635	SNRPE	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	10161	LPAR6	ORPHA:55654
HP:0100037	Abnormality of the scalp hair	10161	LPAR6	OMIM:278150
HP:0100037	Abnormality of the scalp hair	26137	ZBTB20	OMIM:259050
HP:0100037	Abnormality of the scalp hair	4094	MAF	ORPHA:1272
HP:0100037	Abnormality of the scalp hair	4094	MAF	OMIM:601088
HP:0100037	Abnormality of the scalp hair	25959	KANK2	OMIM:616099
HP:0100037	Abnormality of the scalp hair	11005	SPINK5	OMIM:256500
HP:0100037	Abnormality of the scalp hair	11005	SPINK5	ORPHA:634
HP:0100037	Abnormality of the scalp hair	79971	WLS	OMIM:619648
HP:0100037	Abnormality of the scalp hair	84946	LTV1	OMIM:620199
HP:0100037	Abnormality of the scalp hair	126792	B3GALT6	OMIM:271640
HP:0100037	Abnormality of the scalp hair	1984	EIF5A	OMIM:619376
HP:0100037	Abnormality of the scalp hair	8815	BANF1	OMIM:614008
HP:0100037	Abnormality of the scalp hair	545	ATR	ORPHA:808
HP:0100037	Abnormality of the scalp hair	1062	CENPE	ORPHA:808
HP:0100037	Abnormality of the scalp hair	5932	RBBP8	ORPHA:808
HP:0100037	Abnormality of the scalp hair	79902	NUP85	ORPHA:808
HP:0100037	Abnormality of the scalp hair	84126	ATRIP	ORPHA:808
HP:0100037	Abnormality of the scalp hair	55835	CENPJ	ORPHA:808
HP:0100037	Abnormality of the scalp hair	10293	TRAIP	ORPHA:808
HP:0100037	Abnormality of the scalp hair	22995	CEP152	ORPHA:808
HP:0100037	Abnormality of the scalp hair	10733	PLK4	ORPHA:808
HP:0100037	Abnormality of the scalp hair	51750	RTEL1	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	65057	ACD	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	5073	PARN	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	7015	TERT	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	26277	TINF2	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	1736	DKC1	ORPHA:3322
HP:0100037	Abnormality of the scalp hair	9742	IFT140	OMIM:266920
HP:0100037	Abnormality of the scalp hair	54101	RIPK4	OMIM:263650
HP:0100037	Abnormality of the scalp hair	355	FAS	ORPHA:3437
HP:0100037	Abnormality of the scalp hair	26191	PTPN22	ORPHA:3437
HP:0100037	Abnormality of the scalp hair	120766137	HRURF	OMIM:146550
HP:0100037	Abnormality of the scalp hair	2697	GJA1	ORPHA:1010
HP:0100037	Abnormality of the scalp hair	64858	DCLRE1B	OMIM:620133
HP:0100037	Abnormality of the scalp hair	3480	IGF1R	OMIM:270450
HP:0100037	Abnormality of the scalp hair	1281	COL3A1	OMIM:130050
HP:0100037	Abnormality of the scalp hair	1893	ECM1	ORPHA:530
HP:0100037	Abnormality of the scalp hair	5317	PKP1	OMIM:604536
HP:0100037	Abnormality of the scalp hair	5654	HTRA1	ORPHA:199354
HP:0100037	Abnormality of the scalp hair	54800	KLHL24	OMIM:617294
HP:0100037	Abnormality of the scalp hair	1041	CDSN	ORPHA:90368
HP:0100037	Abnormality of the scalp hair	121391	KRT74	ORPHA:90368
HP:0100037	Abnormality of the scalp hair	5297	PI4KA	ORPHA:436252
HP:0100037	Abnormality of the scalp hair	57217	TTC7A	ORPHA:436252
HP:0100037	Abnormality of the scalp hair	404672	GTF2H5	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	833	CARS1	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	2068	ERCC2	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	7737	RNF113A	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	136647	MPLKIP	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	6897	TARS1	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	2071	ERCC3	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	2961	GTF2E2	ORPHA:33364
HP:0100037	Abnormality of the scalp hair	11128	POLR3A	OMIM:264090
HP:0100037	Abnormality of the scalp hair	64421	DCLRE1C	OMIM:602450
HP:0100037	Abnormality of the scalp hair	80781	COL18A1	OMIM:267750
HP:0100037	Abnormality of the scalp hair	10999	SLC27A4	OMIM:608649
HP:0100037	Abnormality of the scalp hair	55315	SLC29A3	OMIM:602782
HP:0100037	Abnormality of the scalp hair	55630	SLC39A4	OMIM:201100
HP:0100037	Abnormality of the scalp hair	23328	SASH1	OMIM:618373
HP:0100037	Abnormality of the scalp hair	7486	WRN	OMIM:277700
HP:0100037	Abnormality of the scalp hair	8626	TP63	OMIM:103285
HP:0100037	Abnormality of the scalp hair	3861	KRT14	OMIM:125595
HP:0100037	Abnormality of the scalp hair	10804	GJB6	ORPHA:477
HP:0100037	Abnormality of the scalp hair	2706	GJB2	ORPHA:477
HP:0100037	Abnormality of the scalp hair	2706	GJB2	OMIM:602540
HP:0100037	Abnormality of the scalp hair	51360	MBTPS2	OMIM:308800
HP:0100037	Abnormality of the scalp hair	1308	COL17A1	OMIM:619787
HP:0100037	Abnormality of the scalp hair	1308	COL17A1	ORPHA:251393
HP:0100037	Abnormality of the scalp hair	1308	COL17A1	ORPHA:79402
HP:0100037	Abnormality of the scalp hair	5339	PLEC	OMIM:226670
HP:0100037	Abnormality of the scalp hair	5339	PLEC	ORPHA:158684
HP:0100037	Abnormality of the scalp hair	3691	ITGB4	ORPHA:158684
HP:0100037	Abnormality of the scalp hair	3691	ITGB4	ORPHA:251393
HP:0100037	Abnormality of the scalp hair	3691	ITGB4	ORPHA:79402
HP:0100037	Abnormality of the scalp hair	10682	EBP	ORPHA:35173
HP:0100037	Abnormality of the scalp hair	126695	KDF1	OMIM:617337
HP:0100037	Abnormality of the scalp hair	387	RHOA	OMIM:618727
HP:0100037	Abnormality of the scalp hair	9076	CLDN1	ORPHA:59303
HP:0100037	Abnormality of the scalp hair	7390	UROS	ORPHA:79277
HP:0100037	Abnormality of the scalp hair	2623	GATA1	ORPHA:79277
HP:0100037	Abnormality of the scalp hair	7389	UROD	ORPHA:95159
HP:0100037	Abnormality of the scalp hair	3909	LAMA3	ORPHA:79402
HP:0100037	Abnormality of the scalp hair	3918	LAMC2	ORPHA:79402
HP:0100037	Abnormality of the scalp hair	3914	LAMB3	ORPHA:79402
HP:0100037	Abnormality of the scalp hair	10297	APC2	ORPHA:821
HP:0100037	Abnormality of the scalp hair	1371	CPOX	ORPHA:79273
HP:0100037	Abnormality of the scalp hair	80144	FRAS1	OMIM:219000
HP:0100037	Abnormality of the scalp hair	5824	PEX19	OMIM:614886
HP:0100037	Abnormality of the scalp hair	158326	FREM1	OMIM:248450
HP:0100037	Abnormality of the scalp hair	7248	TSC1	OMIM:191100
HP:0100037	Abnormality of the scalp hair	9653	HS2ST1	OMIM:619194
HP:0100037	Abnormality of the scalp hair	1802	DPH2	OMIM:620062
HP:0100037	Abnormality of the scalp hair	23394	ADNP	ORPHA:404448
HP:0100037	Abnormality of the scalp hair	23394	ADNP	OMIM:615873
HP:0100037	Abnormality of the scalp hair	104	ADARB1	OMIM:618862
HP:0100037	Abnormality of the scalp hair	8812	CCNK	OMIM:618147
HP:0100037	Abnormality of the scalp hair	6608	SMO	OMIM:601707
HP:0100037	Abnormality of the scalp hair	4010	LMX1B	ORPHA:2614
HP:0100037	Abnormality of the scalp hair	29926	GMPPA	OMIM:615510
HP:0100037	Abnormality of the scalp hair	54361	WNT4	ORPHA:247768
HP:0100037	Abnormality of the scalp hair	7360	UGP2	OMIM:618744
HP:0100037	Abnormality of the scalp hair	3008	H1-4	OMIM:617537
HP:0100037	Abnormality of the scalp hair	3703	STT3A	OMIM:619714
HP:0100037	Abnormality of the scalp hair	5189	PEX1	ORPHA:3220
HP:0100037	Abnormality of the scalp hair	5190	PEX6	ORPHA:3220
HP:0100037	Abnormality of the scalp hair	10283	CWC27	OMIM:250410
HP:0100037	Abnormality of the scalp hair	79718	TBL1XR1	OMIM:602342
HP:0100037	Abnormality of the scalp hair	79718	TBL1XR1	ORPHA:487825
HP:0100037	Abnormality of the scalp hair	79228	THOC6	ORPHA:363444
HP:0100037	Abnormality of the scalp hair	79228	THOC6	OMIM:613680
HP:0100037	Abnormality of the scalp hair	10026	PIGK	OMIM:618879
HP:0100037	Abnormality of the scalp hair	10525	HYOU1	OMIM:233600
HP:0100037	Abnormality of the scalp hair	999	CDH1	OMIM:119580
HP:0100037	Abnormality of the scalp hair	84679	SLC9A7	OMIM:301024
HP:0100037	Abnormality of the scalp hair	64135	IFIH1	OMIM:182250
HP:0100037	Abnormality of the scalp hair	9968	MED12	OMIM:300895
HP:0100037	Abnormality of the scalp hair	64324	NSD1	OMIM:117550
HP:0100037	Abnormality of the scalp hair	55906	ZC4H2	OMIM:314580
HP:0100037	Abnormality of the scalp hair	1748	DLX4	OMIM:616788
HP:0100037	Abnormality of the scalp hair	25942	SIN3A	ORPHA:94065
HP:0100037	Abnormality of the scalp hair	25942	SIN3A	OMIM:613406
HP:0100037	Abnormality of the scalp hair	23028	KDM1A	ORPHA:477993
HP:0100037	Abnormality of the scalp hair	4212	MEIS2	OMIM:600987
HP:0100037	Abnormality of the scalp hair	5587	PRKD1	OMIM:617364
HP:0100037	Abnormality of the scalp hair	29072	SETD2	OMIM:616831
HP:0100037	Abnormality of the scalp hair	4858	NOVA2	OMIM:618859
HP:0100037	Abnormality of the scalp hair	25871	NEPRO	OMIM:618853
HP:0100037	Abnormality of the scalp hair	2245	FGD1	ORPHA:915
HP:0100037	Abnormality of the scalp hair	2783	GNB2	OMIM:619503
HP:0100037	Abnormality of the scalp hair	79633	FAT4	OMIM:615546
HP:0100037	Abnormality of the scalp hair	26057	ANKRD17	OMIM:619504
HP:0100037	Abnormality of the scalp hair	3720	JARID2	OMIM:620098
HP:0100037	Abnormality of the scalp hair	6868	ADAM17	ORPHA:294023
HP:0100037	Abnormality of the scalp hair	1956	EGFR	ORPHA:294023
HP:0100038	Slow-growing scalp hair	1041	CDSN	ORPHA:90368
HP:0100038	Slow-growing scalp hair	121391	KRT74	ORPHA:90368
HP:0100038	Slow-growing scalp hair	6868	ADAM17	ORPHA:294023
HP:0100038	Slow-growing scalp hair	1956	EGFR	ORPHA:294023
HP:0005086	Knee osteoarthritis	4088	SMAD3	ORPHA:284984
HP:0005086	Knee osteoarthritis	4088	SMAD3	OMIM:613795
HP:0005086	Knee osteoarthritis	1301	COL11A1	OMIM:154780
HP:0005086	Knee osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0005086	Knee osteoarthritis	1298	COL9A2	OMIM:600204
HP:0005086	Knee osteoarthritis	6775	STAT4	ORPHA:85408
HP:0005086	Knee osteoarthritis	6775	STAT4	ORPHA:85410
HP:0005086	Knee osteoarthritis	3560	IL2RB	ORPHA:85408
HP:0005086	Knee osteoarthritis	3560	IL2RB	ORPHA:85410
HP:0005086	Knee osteoarthritis	79722	ANKRD55	ORPHA:85408
HP:0005086	Knee osteoarthritis	79722	ANKRD55	ORPHA:85410
HP:0005086	Knee osteoarthritis	26191	PTPN22	ORPHA:85408
HP:0005086	Knee osteoarthritis	26191	PTPN22	ORPHA:85410
HP:0005086	Knee osteoarthritis	919	CD247	ORPHA:85408
HP:0005086	Knee osteoarthritis	919	CD247	ORPHA:85410
HP:0005086	Knee osteoarthritis	3559	IL2RA	ORPHA:85408
HP:0005086	Knee osteoarthritis	3559	IL2RA	ORPHA:85410
HP:0005086	Knee osteoarthritis	5771	PTPN2	ORPHA:85408
HP:0005086	Knee osteoarthritis	5771	PTPN2	ORPHA:85410
HP:0005086	Knee osteoarthritis	1280	COL2A1	OMIM:604864
HP:0005086	Knee osteoarthritis	4087	SMAD2	OMIM:619656
HP:0005086	Knee osteoarthritis	10216	PRG4	ORPHA:2848
HP:0005086	Knee osteoarthritis	4322	MMP13	ORPHA:93356
HP:0005085	Limited knee flexion/extension	9499	MYOT	ORPHA:266
HP:0005085	Limited knee flexion/extension	10082	GPC6	OMIM:258315
HP:0005085	Limited knee flexion/extension	8291	DYSF	ORPHA:268
HP:0100556	Hemiatrophy	10682	EBP	OMIM:302960
HP:0100556	Hemiatrophy	3265	HRAS	ORPHA:2874
HP:0100556	Hemiatrophy	1947	EFNB1	OMIM:304110
HP:0100556	Hemiatrophy	374879	ZNF699	OMIM:619488
HP:0100556	Hemiatrophy	5718	PSMD12	ORPHA:529962
HP:0100556	Hemiatrophy	2186	BPTF	ORPHA:529962
HP:0005092	Streaky metaphyseal sclerosis	3835	KIF22	OMIM:603546
HP:0010044	Short 4th metacarpal	2737	GLI3	ORPHA:672
HP:0010044	Short 4th metacarpal	2737	GLI3	OMIM:146510
HP:0010044	Short 4th metacarpal	64840	PORCN	OMIM:305600
HP:0010044	Short 4th metacarpal	55612	FERMT1	ORPHA:2908
HP:0010044	Short 4th metacarpal	94005	PIGS	OMIM:618143
HP:0010044	Short 4th metacarpal	5593	PRKG2	OMIM:619638
HP:0010044	Short 4th metacarpal	3930	LBR	OMIM:169400
HP:0010044	Short 4th metacarpal	3930	LBR	OMIM:618019
HP:0010044	Short 4th metacarpal	374969	SVBP	OMIM:618569
HP:0010044	Short 4th metacarpal	2778	GNAS	ORPHA:79443
HP:0010044	Short 4th metacarpal	2778	GNAS	ORPHA:79444
HP:0010044	Short 4th metacarpal	2778	GNAS	ORPHA:79445
HP:0010044	Short 4th metacarpal	6473	SHOX	OMIM:127300
HP:0010044	Short 4th metacarpal	6736	SRY	ORPHA:1772
HP:0010044	Short 4th metacarpal	2316	FLNA	OMIM:311300
HP:0010044	Short 4th metacarpal	79633	FAT4	OMIM:615546
HP:0010044	Short 4th metacarpal	8642	DCHS1	OMIM:601390
HP:0010044	Short 4th metacarpal	26224	FBXL3	OMIM:606220
HP:0010044	Short 4th metacarpal	5727	PTCH1	OMIM:109400
HP:0100040	Broad 2nd toe	9487	PIGL	OMIM:280000
HP:0100040	Broad 2nd toe	6595	SMARCA2	OMIM:601358
HP:0041162	Metatarsal fracture	25923	ATL3	OMIM:615632
HP:0100046	Cone-shaped epiphyses of the 2nd toe	23102	TBC1D2B	ORPHA:397973
HP:0001789	Hydrops fetalis	5337	PLD1	OMIM:212093
HP:0001789	Hydrops fetalis	355	FAS	ORPHA:3261
HP:0001789	Hydrops fetalis	356	FASLG	ORPHA:3261
HP:0001789	Hydrops fetalis	5580	PRKCD	ORPHA:3261
HP:0001789	Hydrops fetalis	843	CASP10	ORPHA:3261
HP:0001789	Hydrops fetalis	10125	RASGRP1	ORPHA:3261
HP:0001789	Hydrops fetalis	1836	SLC26A2	OMIM:600972
HP:0001789	Hydrops fetalis	1836	SLC26A2	ORPHA:93298
HP:0001789	Hydrops fetalis	10112	KIF20A	OMIM:619433
HP:0001789	Hydrops fetalis	5167	ENPP1	ORPHA:51608
HP:0001789	Hydrops fetalis	368	ABCC6	ORPHA:51608
HP:0001789	Hydrops fetalis	4750	NEK1	OMIM:263520
HP:0001789	Hydrops fetalis	2632	GBE1	OMIM:232500
HP:0001789	Hydrops fetalis	9508	ADAMTS3	ORPHA:2136
HP:0001789	Hydrops fetalis	79633	FAT4	ORPHA:2136
HP:0001789	Hydrops fetalis	57539	WDR35	OMIM:613610
HP:0001789	Hydrops fetalis	57539	WDR35	ORPHA:93271
HP:0001789	Hydrops fetalis	57539	WDR35	OMIM:614091
HP:0001789	Hydrops fetalis	4758	NEU1	OMIM:256550
HP:0001789	Hydrops fetalis	5745	PTH1R	OMIM:215045
HP:0001789	Hydrops fetalis	5745	PTH1R	ORPHA:50945
HP:0001789	Hydrops fetalis	2990	GUSB	ORPHA:584
HP:0001789	Hydrops fetalis	2990	GUSB	OMIM:253220
HP:0001789	Hydrops fetalis	79796	ALG9	ORPHA:79328
HP:0001789	Hydrops fetalis	4247	MGAT2	ORPHA:79329
HP:0001789	Hydrops fetalis	6888	TALDO1	ORPHA:101028
HP:0001789	Hydrops fetalis	55112	DYNC2I1	ORPHA:93271
HP:0001789	Hydrops fetalis	57560	IFT80	ORPHA:93271
HP:0001789	Hydrops fetalis	79659	DYNC2H1	ORPHA:93271
HP:0001789	Hydrops fetalis	89891	DYNC2I2	ORPHA:93271
HP:0001789	Hydrops fetalis	91754	NEK9	OMIM:617022
HP:0001789	Hydrops fetalis	202018	TAPT1	OMIM:616897
HP:0001789	Hydrops fetalis	3030	HADHA	OMIM:609015
HP:0001789	Hydrops fetalis	2122	MECOM	OMIM:616738
HP:0001789	Hydrops fetalis	2720	GLB1	ORPHA:79255
HP:0001789	Hydrops fetalis	2720	GLB1	OMIM:230500
HP:0001789	Hydrops fetalis	1146	CHRNG	OMIM:265000
HP:0001789	Hydrops fetalis	427	ASAH1	ORPHA:333
HP:0001789	Hydrops fetalis	9321	TRIP11	OMIM:200600
HP:0001789	Hydrops fetalis	9321	TRIP11	ORPHA:93299
HP:0001789	Hydrops fetalis	26503	SLC17A5	OMIM:269920
HP:0001789	Hydrops fetalis	9786	KIAA0586	OMIM:616546
HP:0001789	Hydrops fetalis	10661	KLF1	OMIM:613673
HP:0001789	Hydrops fetalis	6261	RYR1	OMIM:255320
HP:0001789	Hydrops fetalis	7476	WNT7A	ORPHA:2879
HP:0001789	Hydrops fetalis	1280	COL2A1	ORPHA:85166
HP:0001789	Hydrops fetalis	1280	COL2A1	OMIM:200610
HP:0001789	Hydrops fetalis	25974	MMACHC	ORPHA:79282
HP:0001789	Hydrops fetalis	2317	FLNB	ORPHA:1263
HP:0001789	Hydrops fetalis	55109	AGGF1	ORPHA:90308
HP:0001789	Hydrops fetalis	3339	HSPG2	ORPHA:1865
HP:0001789	Hydrops fetalis	79053	ALG8	ORPHA:79325
HP:0001789	Hydrops fetalis	2035	EPB41	ORPHA:288
HP:0001789	Hydrops fetalis	2995	GYPC	ORPHA:288
HP:0001789	Hydrops fetalis	6710	SPTB	ORPHA:288
HP:0001789	Hydrops fetalis	6708	SPTA1	ORPHA:288
HP:0001789	Hydrops fetalis	9896	FIG4	OMIM:216340
HP:0001789	Hydrops fetalis	9896	FIG4	ORPHA:3472
HP:0001789	Hydrops fetalis	191	AHCY	ORPHA:88618
HP:0001789	Hydrops fetalis	7809	BSND	OMIM:602522
HP:0001789	Hydrops fetalis	55697	VAC14	ORPHA:3472
HP:0001789	Hydrops fetalis	1301	COL11A1	OMIM:228520
HP:0001789	Hydrops fetalis	4905	NSF	OMIM:619340
HP:0001789	Hydrops fetalis	5277	PIGA	OMIM:300868
HP:0001789	Hydrops fetalis	6007	RHD	OMIM:619462
HP:0001789	Hydrops fetalis	146059	CDAN1	OMIM:224120
HP:0001789	Hydrops fetalis	4591	TRIM37	OMIM:253250
HP:0001789	Hydrops fetalis	3039	HBA1	ORPHA:163596
HP:0001789	Hydrops fetalis	3040	HBA2	ORPHA:163596
HP:0001789	Hydrops fetalis	54345	SOX18	OMIM:137940
HP:0001789	Hydrops fetalis	54345	SOX18	OMIM:607823
HP:0001789	Hydrops fetalis	3930	LBR	OMIM:215140
HP:0001789	Hydrops fetalis	2294	FOXF1	OMIM:265380
HP:0001789	Hydrops fetalis	55388	MCM10	OMIM:619313
HP:0001789	Hydrops fetalis	4593	MUSK	OMIM:208150
HP:0001789	Hydrops fetalis	5530	PPP3CA	OMIM:618265
HP:0001789	Hydrops fetalis	9780	PIEZO1	OMIM:616843
HP:0001789	Hydrops fetalis	1277	COL1A1	OMIM:166210
HP:0001789	Hydrops fetalis	1278	COL1A2	OMIM:166210
HP:0001789	Hydrops fetalis	55901	THSD1	OMIM:620244
HP:0001789	Hydrops fetalis	54675	CRLS1	OMIM:620167
HP:0001789	Hydrops fetalis	147372	CCBE1	OMIM:235510
HP:0001789	Hydrops fetalis	2629	GBA1	OMIM:608013
HP:0001789	Hydrops fetalis	7389	UROD	ORPHA:95159
HP:0001789	Hydrops fetalis	6331	SCN5A	OMIM:603830
HP:0001789	Hydrops fetalis	5313	PKLR	OMIM:266200
HP:0001789	Hydrops fetalis	6135	RPL11	ORPHA:124
HP:0001789	Hydrops fetalis	6138	RPL15	ORPHA:124
HP:0001789	Hydrops fetalis	6229	RPS24	ORPHA:124
HP:0001789	Hydrops fetalis	6125	RPL5	ORPHA:124
HP:0001789	Hydrops fetalis	6204	RPS10	ORPHA:124
HP:0001789	Hydrops fetalis	6224	RPS20	ORPHA:124
HP:0001789	Hydrops fetalis	6165	RPL35A	ORPHA:124
HP:0001789	Hydrops fetalis	2623	GATA1	ORPHA:124
HP:0001789	Hydrops fetalis	2623	GATA1	ORPHA:79277
HP:0001789	Hydrops fetalis	6223	RPS19	ORPHA:124
HP:0001789	Hydrops fetalis	6232	RPS27	ORPHA:124
HP:0001789	Hydrops fetalis	6231	RPS26	ORPHA:124
HP:0001789	Hydrops fetalis	11224	RPL35	ORPHA:124
HP:0001789	Hydrops fetalis	6160	RPL31	ORPHA:124
HP:0001789	Hydrops fetalis	6218	RPS17	ORPHA:124
HP:0001789	Hydrops fetalis	6201	RPS7	ORPHA:124
HP:0001789	Hydrops fetalis	6155	RPL27	ORPHA:124
HP:0001789	Hydrops fetalis	6154	RPL26	ORPHA:124
HP:0001789	Hydrops fetalis	6210	RPS15A	ORPHA:124
HP:0001789	Hydrops fetalis	90121	TSR2	ORPHA:124
HP:0001789	Hydrops fetalis	6141	RPL18	ORPHA:124
HP:0001789	Hydrops fetalis	6235	RPS29	ORPHA:124
HP:0001789	Hydrops fetalis	6234	RPS28	ORPHA:124
HP:0001789	Hydrops fetalis	51816	ADA2	ORPHA:124
HP:0001789	Hydrops fetalis	57538	ALPK3	OMIM:618052
HP:0001789	Hydrops fetalis	4716	NDUFB10	OMIM:619003
HP:0001789	Hydrops fetalis	23395	LARS2	OMIM:617021
HP:0001789	Hydrops fetalis	10203	CALCRL	OMIM:618773
HP:0001789	Hydrops fetalis	2324	FLT4	OMIM:153100
HP:0001789	Hydrops fetalis	79587	CARS2	ORPHA:477774
HP:0001789	Hydrops fetalis	2050	EPHB4	OMIM:617300
HP:0001789	Hydrops fetalis	2050	EPHB4	ORPHA:137667
HP:0001789	Hydrops fetalis	2303	FOXC2	OMIM:153400
HP:0001789	Hydrops fetalis	55278	QRSL1	OMIM:618835
HP:0001789	Hydrops fetalis	23426	GRIP1	OMIM:617667
HP:0001789	Hydrops fetalis	5188	GATB	OMIM:618838
HP:0001789	Hydrops fetalis	9971	NR1H4	OMIM:617049
HP:0001789	Hydrops fetalis	5921	RASA1	ORPHA:137667
HP:0001789	Hydrops fetalis	29969	MDFIC	OMIM:620014
HP:0001789	Hydrops fetalis	23169	SLC35D1	OMIM:269250
HP:0001789	Hydrops fetalis	7390	UROS	ORPHA:79277
HP:0001789	Hydrops fetalis	283459	GATC	OMIM:618839
HP:0001789	Hydrops fetalis	56052	ALG1	OMIM:608540
HP:0001789	Hydrops fetalis	5476	CTSA	OMIM:256540
HP:0001789	Hydrops fetalis	5373	PMM2	OMIM:212065
HP:0001561	Polyhydramnios	2137	EXTL3	ORPHA:508533
HP:0001561	Polyhydramnios	83483	PLVAP	OMIM:618183
HP:0001561	Polyhydramnios	2294	FOXF1	OMIM:265380
HP:0001561	Polyhydramnios	8036	SHOC2	OMIM:607721
HP:0001561	Polyhydramnios	3763	KCNJ6	ORPHA:435628
HP:0001561	Polyhydramnios	3763	KCNJ6	OMIM:614098
HP:0001561	Polyhydramnios	4621	MYH3	ORPHA:2053
HP:0001561	Polyhydramnios	4621	MYH3	OMIM:193700
HP:0001561	Polyhydramnios	259232	NALCN	ORPHA:2053
HP:0001561	Polyhydramnios	199857	ALG14	OMIM:619036
HP:0001561	Polyhydramnios	104	ADARB1	OMIM:618862
HP:0001561	Polyhydramnios	10046	MAMLD1	ORPHA:456328
HP:0001561	Polyhydramnios	4534	MTM1	ORPHA:456328
HP:0001561	Polyhydramnios	4534	MTM1	ORPHA:596
HP:0001561	Polyhydramnios	4534	MTM1	OMIM:310400
HP:0001561	Polyhydramnios	2304	FOXE1	OMIM:241850
HP:0001561	Polyhydramnios	2304	FOXE1	ORPHA:1226
HP:0001561	Polyhydramnios	8506	CNTNAP1	OMIM:618186
HP:0001561	Polyhydramnios	8506	CNTNAP1	OMIM:616286
HP:0001561	Polyhydramnios	5339	PLEC	ORPHA:158684
HP:0001561	Polyhydramnios	5339	PLEC	OMIM:226730
HP:0001561	Polyhydramnios	5339	PLEC	OMIM:612138
HP:0001561	Polyhydramnios	3691	ITGB4	ORPHA:158684
HP:0001561	Polyhydramnios	3691	ITGB4	ORPHA:79403
HP:0001561	Polyhydramnios	3691	ITGB4	OMIM:226730
HP:0001561	Polyhydramnios	55503	TRPV6	OMIM:618188
HP:0001561	Polyhydramnios	23334	SZT2	OMIM:615476
HP:0001561	Polyhydramnios	6016	RIT1	OMIM:615355
HP:0001561	Polyhydramnios	23556	PIGN	ORPHA:2059
HP:0001561	Polyhydramnios	23556	PIGN	OMIM:614080
HP:0001561	Polyhydramnios	673	BRAF	OMIM:115150
HP:0001561	Polyhydramnios	57539	WDR35	OMIM:613610
HP:0001561	Polyhydramnios	5894	RAF1	OMIM:611553
HP:0001561	Polyhydramnios	4897	NRCAM	OMIM:619833
HP:0001561	Polyhydramnios	145173	B3GLCT	ORPHA:709
HP:0001561	Polyhydramnios	145173	B3GLCT	OMIM:261540
HP:0001561	Polyhydramnios	22800	RRAS2	OMIM:618624
HP:0001561	Polyhydramnios	8854	ALDH1A2	OMIM:620025
HP:0001561	Polyhydramnios	3636	INPPL1	ORPHA:3144
HP:0001561	Polyhydramnios	3636	INPPL1	OMIM:258480
HP:0001561	Polyhydramnios	23169	SLC35D1	ORPHA:3144
HP:0001561	Polyhydramnios	23169	SLC35D1	OMIM:269250
HP:0001561	Polyhydramnios	2261	FGFR3	ORPHA:93274
HP:0001561	Polyhydramnios	2261	FGFR3	ORPHA:1860
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:100800
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:187601
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:187600
HP:0001561	Polyhydramnios	126792	B3GALT6	OMIM:609465
HP:0001561	Polyhydramnios	2629	GBA1	OMIM:608013
HP:0001561	Polyhydramnios	3655	ITGA6	ORPHA:79403
HP:0001561	Polyhydramnios	4487	MSX1	ORPHA:199302
HP:0001561	Polyhydramnios	5818	NECTIN1	ORPHA:199302
HP:0001561	Polyhydramnios	8626	TP63	ORPHA:199302
HP:0001561	Polyhydramnios	3664	IRF6	ORPHA:199302
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:56305
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:1190
HP:0001561	Polyhydramnios	2317	FLNB	OMIM:108720
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:1263
HP:0001561	Polyhydramnios	1836	SLC26A2	ORPHA:56304
HP:0001561	Polyhydramnios	1836	SLC26A2	OMIM:600972
HP:0001561	Polyhydramnios	1836	SLC26A2	ORPHA:93298
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171436
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171433
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171430
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:2020
HP:0001561	Polyhydramnios	58	ACTA1	OMIM:161800
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171439
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:171436
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:2020
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:171439
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171436
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171433
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171430
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171439
HP:0001561	Polyhydramnios	4703	NEB	OMIM:256030
HP:0001561	Polyhydramnios	4703	NEB	OMIM:619334
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171436
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171433
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171430
HP:0001561	Polyhydramnios	10324	KLHL41	OMIM:615731
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171439
HP:0001561	Polyhydramnios	56203	LMOD3	ORPHA:171436
HP:0001561	Polyhydramnios	56203	LMOD3	ORPHA:171430
HP:0001561	Polyhydramnios	56203	LMOD3	OMIM:616165
HP:0001561	Polyhydramnios	1073	CFL2	ORPHA:171436
HP:0001561	Polyhydramnios	51112	TRAPPC12	ORPHA:500144
HP:0001561	Polyhydramnios	249	ALPL	OMIM:241500
HP:0001561	Polyhydramnios	9578	CDC42BPB	OMIM:619841
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:171433
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:2020
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:171439
HP:0001561	Polyhydramnios	80816	ASXL3	OMIM:615485
HP:0001561	Polyhydramnios	131377	KLHL40	ORPHA:171430
HP:0001561	Polyhydramnios	131377	KLHL40	OMIM:615348
HP:0001561	Polyhydramnios	1785	DNM2	OMIM:615368
HP:0001561	Polyhydramnios	1785	DNM2	ORPHA:169189
HP:0001561	Polyhydramnios	1841	DTYMK	OMIM:619847
HP:0001561	Polyhydramnios	22858	CILK1	OMIM:612651
HP:0001561	Polyhydramnios	477	ATP1A2	OMIM:619602
HP:0001561	Polyhydramnios	2132	EXT2	ORPHA:466926
HP:0001561	Polyhydramnios	6662	SOX9	OMIM:114290
HP:0001561	Polyhydramnios	1717	DHCR7	ORPHA:818
HP:0001561	Polyhydramnios	9200	HACD1	OMIM:619967
HP:0001561	Polyhydramnios	9200	HACD1	ORPHA:2020
HP:0001561	Polyhydramnios	5979	RET	ORPHA:99803
HP:0001561	Polyhydramnios	429	ASCL1	ORPHA:99803
HP:0001561	Polyhydramnios	8929	PHOX2B	ORPHA:99803
HP:0001561	Polyhydramnios	55636	CHD7	ORPHA:138
HP:0001561	Polyhydramnios	55636	CHD7	OMIM:214800
HP:0001561	Polyhydramnios	9723	SEMA3E	ORPHA:138
HP:0001561	Polyhydramnios	2188	FANCF	OMIM:603467
HP:0001561	Polyhydramnios	7125	TNNC2	OMIM:620161
HP:0001561	Polyhydramnios	535	ATP6V0A1	OMIM:619971
HP:0001561	Polyhydramnios	1272	CNTN1	OMIM:612540
HP:0001561	Polyhydramnios	23522	KAT6B	OMIM:606170
HP:0001561	Polyhydramnios	23522	KAT6B	ORPHA:3047
HP:0001561	Polyhydramnios	6261	RYR1	OMIM:255320
HP:0001561	Polyhydramnios	6261	RYR1	ORPHA:169189
HP:0001561	Polyhydramnios	6261	RYR1	ORPHA:98905
HP:0001561	Polyhydramnios	10606	PAICS	OMIM:619859
HP:0001561	Polyhydramnios	55681	SCYL2	OMIM:618766
HP:0001561	Polyhydramnios	55107	ANO1	OMIM:620045
HP:0001561	Polyhydramnios	79087	ALG12	OMIM:607143
HP:0001561	Polyhydramnios	79087	ALG12	ORPHA:79324
HP:0001561	Polyhydramnios	283989	TSEN54	ORPHA:166063
HP:0001561	Polyhydramnios	283989	TSEN54	OMIM:277470
HP:0001561	Polyhydramnios	283989	TSEN54	OMIM:225753
HP:0001561	Polyhydramnios	4524	MTHFR	ORPHA:563612
HP:0001561	Polyhydramnios	57216	VANGL2	ORPHA:563612
HP:0001561	Polyhydramnios	9896	FIG4	ORPHA:3472
HP:0001561	Polyhydramnios	9896	FIG4	OMIM:216340
HP:0001561	Polyhydramnios	55697	VAC14	ORPHA:3472
HP:0001561	Polyhydramnios	57190	SELENON	ORPHA:2020
HP:0001561	Polyhydramnios	4633	MYL2	ORPHA:2020
HP:0001561	Polyhydramnios	3679	ITGA7	ORPHA:2020
HP:0001561	Polyhydramnios	51776	MAP3K20	ORPHA:2020
HP:0001561	Polyhydramnios	9184	BUB3	ORPHA:1052
HP:0001561	Polyhydramnios	699	BUB1	ORPHA:1052
HP:0001561	Polyhydramnios	9702	CEP57	ORPHA:1052
HP:0001561	Polyhydramnios	9319	TRIP13	ORPHA:1052
HP:0001561	Polyhydramnios	701	BUB1B	ORPHA:1052
HP:0001561	Polyhydramnios	10203	CALCRL	OMIM:618773
HP:0001561	Polyhydramnios	4632	MYL1	OMIM:618414
HP:0001561	Polyhydramnios	200734	SPRED2	OMIM:619745
HP:0001561	Polyhydramnios	25942	SIN3A	OMIM:613406
HP:0001561	Polyhydramnios	3265	HRAS	OMIM:218040
HP:0001561	Polyhydramnios	3265	HRAS	ORPHA:3071
HP:0001561	Polyhydramnios	3039	HBA1	ORPHA:163596
HP:0001561	Polyhydramnios	3040	HBA2	ORPHA:163596
HP:0001561	Polyhydramnios	26227	PHGDH	OMIM:256520
HP:0001561	Polyhydramnios	129563	DIS3L2	OMIM:267000
HP:0001561	Polyhydramnios	4953	ODC1	OMIM:619075
HP:0001561	Polyhydramnios	4953	ODC1	ORPHA:544488
HP:0001561	Polyhydramnios	7809	BSND	ORPHA:89938
HP:0001561	Polyhydramnios	7809	BSND	OMIM:602522
HP:0001561	Polyhydramnios	1188	CLCNKB	ORPHA:89938
HP:0001561	Polyhydramnios	1188	CLCNKB	OMIM:613090
HP:0001561	Polyhydramnios	1187	CLCNKA	ORPHA:89938
HP:0001561	Polyhydramnios	1187	CLCNKA	OMIM:613090
HP:0001561	Polyhydramnios	1186	CLCN7	OMIM:618541
HP:0001561	Polyhydramnios	57217	TTC7A	OMIM:243150
HP:0001561	Polyhydramnios	57217	TTC7A	ORPHA:2300
HP:0001561	Polyhydramnios	57217	TTC7A	ORPHA:436252
HP:0001561	Polyhydramnios	1280	COL2A1	OMIM:151210
HP:0001561	Polyhydramnios	1280	COL2A1	ORPHA:93316
HP:0001561	Polyhydramnios	1280	COL2A1	ORPHA:85166
HP:0001561	Polyhydramnios	1280	COL2A1	OMIM:200610
HP:0001561	Polyhydramnios	4593	MUSK	OMIM:208150
HP:0001561	Polyhydramnios	4593	MUSK	ORPHA:994
HP:0001561	Polyhydramnios	57498	KIDINS220	ORPHA:521390
HP:0001561	Polyhydramnios	57498	KIDINS220	OMIM:617296
HP:0001561	Polyhydramnios	56006	SMG9	OMIM:616920
HP:0001561	Polyhydramnios	6135	RPL11	OMIM:612562
HP:0001561	Polyhydramnios	100128927	ZBTB42	OMIM:616248
HP:0001561	Polyhydramnios	9091	PIGQ	OMIM:618548
HP:0001561	Polyhydramnios	6134	RPL10	ORPHA:459070
HP:0001561	Polyhydramnios	6134	RPL10	OMIM:300998
HP:0001561	Polyhydramnios	23345	SYNE1	ORPHA:319332
HP:0001561	Polyhydramnios	54499	TMCO1	OMIM:213980
HP:0001561	Polyhydramnios	54499	TMCO1	ORPHA:1394
HP:0001561	Polyhydramnios	157570	ESCO2	ORPHA:3103
HP:0001561	Polyhydramnios	157570	ESCO2	OMIM:268300
HP:0001561	Polyhydramnios	8085	KMT2D	OMIM:620186
HP:0001561	Polyhydramnios	1859	DYRK1A	ORPHA:464311
HP:0001561	Polyhydramnios	84992	PIGY	OMIM:616809
HP:0001561	Polyhydramnios	51611	DPH5	OMIM:620070
HP:0001561	Polyhydramnios	554	AVPR2	ORPHA:223
HP:0001561	Polyhydramnios	359	AQP2	ORPHA:223
HP:0001561	Polyhydramnios	5605	MAP2K2	OMIM:615280
HP:0001561	Polyhydramnios	2187	FANCB	OMIM:314390
HP:0001561	Polyhydramnios	2187	FANCB	ORPHA:3412
HP:0001561	Polyhydramnios	7547	ZIC3	OMIM:314390
HP:0001561	Polyhydramnios	7547	ZIC3	OMIM:306955
HP:0001561	Polyhydramnios	59336	PRDM13	OMIM:619761
HP:0001561	Polyhydramnios	3845	KRAS	ORPHA:3339
HP:0001561	Polyhydramnios	3845	KRAS	OMIM:609942
HP:0001561	Polyhydramnios	1811	SLC26A3	OMIM:214700
HP:0001561	Polyhydramnios	25802	LMOD1	ORPHA:2241
HP:0001561	Polyhydramnios	25802	LMOD1	OMIM:619362
HP:0001561	Polyhydramnios	4629	MYH11	ORPHA:2241
HP:0001561	Polyhydramnios	72	ACTG2	ORPHA:2241
HP:0001561	Polyhydramnios	72	ACTG2	OMIM:155310
HP:0001561	Polyhydramnios	4638	MYLK	ORPHA:2241
HP:0001561	Polyhydramnios	7841	MOGS	ORPHA:79330
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:96334
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:254534
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:254528
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:96334
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:254534
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:254528
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:96334
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:254534
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:254528
HP:0001561	Polyhydramnios	2065	ERBB3	OMIM:607598
HP:0001561	Polyhydramnios	2271	FH	OMIM:606812
HP:0001561	Polyhydramnios	3930	LBR	OMIM:215140
HP:0001561	Polyhydramnios	2239	GPC4	ORPHA:373
HP:0001561	Polyhydramnios	2239	GPC4	OMIM:312870
HP:0001561	Polyhydramnios	2719	GPC3	ORPHA:373
HP:0001561	Polyhydramnios	2719	GPC3	OMIM:312870
HP:0001561	Polyhydramnios	79989	IFT56	OMIM:619534
HP:0001561	Polyhydramnios	9652	SKIC3	OMIM:222470
HP:0001561	Polyhydramnios	64321	SOX17	OMIM:613674
HP:0001561	Polyhydramnios	84665	MYPN	ORPHA:171439
HP:0001561	Polyhydramnios	390594	KBTBD13	ORPHA:171439
HP:0001561	Polyhydramnios	9321	TRIP11	ORPHA:93299
HP:0001561	Polyhydramnios	9321	TRIP11	OMIM:200600
HP:0001561	Polyhydramnios	5048	PAFAH1B1	ORPHA:95232
HP:0001561	Polyhydramnios	5048	PAFAH1B1	ORPHA:531
HP:0001561	Polyhydramnios	3339	HSPG2	ORPHA:800
HP:0001561	Polyhydramnios	286204	CRB2	OMIM:219730
HP:0001561	Polyhydramnios	10682	EBP	OMIM:302960
HP:0001561	Polyhydramnios	6567	SLC16A2	ORPHA:59
HP:0001561	Polyhydramnios	171023	ASXL1	OMIM:605039
HP:0001561	Polyhydramnios	81570	CLPB	OMIM:616271
HP:0001561	Polyhydramnios	91137	SLC25A46	OMIM:619303
HP:0001561	Polyhydramnios	8621	CDK13	OMIM:617360
HP:0001561	Polyhydramnios	867	CBL	OMIM:613563
HP:0001561	Polyhydramnios	29968	PSAT1	OMIM:616038
HP:0001561	Polyhydramnios	1146	CHRNG	OMIM:253290
HP:0001561	Polyhydramnios	1144	CHRND	OMIM:253290
HP:0001561	Polyhydramnios	1134	CHRNA1	OMIM:253290
HP:0001561	Polyhydramnios	55112	DYNC2I1	OMIM:615503
HP:0001561	Polyhydramnios	8216	LZTR1	OMIM:605275
HP:0001561	Polyhydramnios	6654	SOS1	OMIM:610733
HP:0001561	Polyhydramnios	4054	LTBP3	OMIM:617809
HP:0001561	Polyhydramnios	9949	AMMECR1	OMIM:300990
HP:0001561	Polyhydramnios	9361	LONP1	OMIM:600373
HP:0001561	Polyhydramnios	55906	ZC4H2	OMIM:301041
HP:0001561	Polyhydramnios	112	ADCY6	OMIM:616287
HP:0001561	Polyhydramnios	9780	PIEZO1	OMIM:616843
HP:0001561	Polyhydramnios	2632	GBE1	OMIM:232500
HP:0001561	Polyhydramnios	89891	DYNC2I2	OMIM:615633
HP:0001561	Polyhydramnios	2733	GLE1	ORPHA:1486
HP:0001561	Polyhydramnios	5396	PRRX1	OMIM:202650
HP:0001561	Polyhydramnios	5396	PRRX1	ORPHA:990
HP:0001561	Polyhydramnios	92335	STRADA	ORPHA:500533
HP:0001561	Polyhydramnios	92335	STRADA	OMIM:611087
HP:0001561	Polyhydramnios	6334	SCN8A	OMIM:614306
HP:0001561	Polyhydramnios	8818	DPM2	ORPHA:329178
HP:0001561	Polyhydramnios	7473	WNT3	ORPHA:3301
HP:0001561	Polyhydramnios	340419	RSPO2	ORPHA:3301
HP:0001561	Polyhydramnios	274	BIN1	ORPHA:169189
HP:0001561	Polyhydramnios	64419	MTMR14	ORPHA:169189
HP:0001561	Polyhydramnios	4618	MYF6	ORPHA:169189
HP:0001561	Polyhydramnios	5745	PTH1R	OMIM:215045
HP:0001561	Polyhydramnios	5745	PTH1R	ORPHA:50945
HP:0001561	Polyhydramnios	7681	MKRN3	OMIM:176270
HP:0001561	Polyhydramnios	3653	IPW	OMIM:176270
HP:0001561	Polyhydramnios	54551	MAGEL2	OMIM:176270
HP:0001561	Polyhydramnios	791114	PWRN1	OMIM:176270
HP:0001561	Polyhydramnios	100033413	SNORD116-1	OMIM:176270
HP:0001561	Polyhydramnios	8924	HERC2	OMIM:176270
HP:0001561	Polyhydramnios	145624	PWAR1	OMIM:176270
HP:0001561	Polyhydramnios	23742	NPAP1	OMIM:176270
HP:0001561	Polyhydramnios	338433	SNORD115-1	OMIM:176270
HP:0001561	Polyhydramnios	55593	OTUD5	OMIM:301056
HP:0001561	Polyhydramnios	10999	SLC27A4	OMIM:608649
HP:0001561	Polyhydramnios	6647	SOD1	OMIM:618598
HP:0001561	Polyhydramnios	113179	ADAT3	ORPHA:363528
HP:0001561	Polyhydramnios	4893	NRAS	OMIM:613224
HP:0001561	Polyhydramnios	2033	EP300	ORPHA:353284
HP:0001561	Polyhydramnios	2033	EP300	OMIM:180849
HP:0001561	Polyhydramnios	55033	FKBP14	OMIM:614557
HP:0001561	Polyhydramnios	6513	SLC2A1	OMIM:608885
HP:0001561	Polyhydramnios	1760	DMPK	OMIM:160900
HP:0001561	Polyhydramnios	1760	DMPK	ORPHA:589821
HP:0001561	Polyhydramnios	6904	TBCD	ORPHA:496641
HP:0001561	Polyhydramnios	10916	MAGED2	OMIM:300971
HP:0001561	Polyhydramnios	2530	FUT8	OMIM:618005
HP:0001561	Polyhydramnios	1956	EGFR	OMIM:616069
HP:0001561	Polyhydramnios	54496	PRMT7	OMIM:617157
HP:0001561	Polyhydramnios	7019	TFAM	OMIM:617156
HP:0001561	Polyhydramnios	6550	SLC9A3	OMIM:616868
HP:0001561	Polyhydramnios	80746	TSEN2	OMIM:612389
HP:0001561	Polyhydramnios	51008	ASCC1	OMIM:616867
HP:0001561	Polyhydramnios	57211	ADGRG6	OMIM:616503
HP:0001561	Polyhydramnios	2917	GRM7	OMIM:618922
HP:0001561	Polyhydramnios	1312	COMT	ORPHA:567
HP:0001561	Polyhydramnios	221037	JMJD1C	ORPHA:567
HP:0001561	Polyhydramnios	2812	GP1BB	ORPHA:567
HP:0001561	Polyhydramnios	6239	RREB1	ORPHA:567
HP:0001561	Polyhydramnios	6899	TBX1	ORPHA:567
HP:0001561	Polyhydramnios	7290	HIRA	ORPHA:567
HP:0001561	Polyhydramnios	9632	SEC24C	ORPHA:567
HP:0001561	Polyhydramnios	7353	UFD1	ORPHA:567
HP:0001561	Polyhydramnios	421	ARVCF	ORPHA:567
HP:0001561	Polyhydramnios	8604	SLC25A12	OMIM:612949
HP:0001561	Polyhydramnios	7703	PCGF2	OMIM:618371
HP:0001561	Polyhydramnios	6557	SLC12A1	OMIM:601678
HP:0001561	Polyhydramnios	3758	KCNJ1	OMIM:241200
HP:0001561	Polyhydramnios	5277	PIGA	OMIM:300868
HP:0001561	Polyhydramnios	79796	ALG9	OMIM:263210
HP:0001561	Polyhydramnios	6007	RHD	OMIM:619462
HP:0001561	Polyhydramnios	4613	MYCN	OMIM:164280
HP:0001561	Polyhydramnios	10320	IKZF1	OMIM:616873
HP:0001561	Polyhydramnios	55210	ATAD3A	OMIM:618810
HP:0001561	Polyhydramnios	208	AKT2	OMIM:240900
HP:0001561	Polyhydramnios	124997	WDR81	OMIM:617967
HP:0001561	Polyhydramnios	4927	NUP88	ORPHA:994
HP:0001561	Polyhydramnios	4927	NUP88	OMIM:618393
HP:0001561	Polyhydramnios	7846	TUBA1A	ORPHA:994
HP:0001561	Polyhydramnios	4654	MYOD1	ORPHA:994
HP:0001561	Polyhydramnios	4654	MYOD1	OMIM:618975
HP:0001561	Polyhydramnios	5913	RAPSN	ORPHA:994
HP:0001561	Polyhydramnios	6572	SLC18A3	ORPHA:994
HP:0001561	Polyhydramnios	6572	SLC18A3	ORPHA:98914
HP:0001561	Polyhydramnios	285489	DOK7	ORPHA:994
HP:0001561	Polyhydramnios	5015	OTX2	ORPHA:990
HP:0001561	Polyhydramnios	80347	COASY	OMIM:618266
HP:0001561	Polyhydramnios	6628	SNRPB	OMIM:117650
HP:0001561	Polyhydramnios	57003	CCDC47	OMIM:618268
HP:0001561	Polyhydramnios	5977	DPF2	OMIM:618027
HP:0001561	Polyhydramnios	10526	IPO8	OMIM:619472
HP:0001561	Polyhydramnios	5167	ENPP1	ORPHA:51608
HP:0001561	Polyhydramnios	368	ABCC6	ORPHA:51608
HP:0001561	Polyhydramnios	1387	CREBBP	OMIM:180849
HP:0001561	Polyhydramnios	1387	CREBBP	ORPHA:353277
HP:0001561	Polyhydramnios	1861	TOR1A	OMIM:618947
HP:0001561	Polyhydramnios	8405	SPOP	OMIM:618829
HP:0001561	Polyhydramnios	9935	MAFB	ORPHA:2774
HP:0001561	Polyhydramnios	526	ATP6V1B2	ORPHA:79500
HP:0001561	Polyhydramnios	57465	TBC1D24	ORPHA:79500
HP:0001561	Polyhydramnios	10653	SPINT2	OMIM:270420
HP:0001561	Polyhydramnios	1457	CSNK2A1	OMIM:617062
HP:0001561	Polyhydramnios	2077	ERF	OMIM:617180
HP:0001561	Polyhydramnios	8567	MADD	OMIM:619004
HP:0001561	Polyhydramnios	374879	ZNF699	OMIM:619488
HP:0001561	Polyhydramnios	55640	FLVCR2	OMIM:225790
HP:0001561	Polyhydramnios	9508	ADAMTS3	OMIM:618154
HP:0001561	Polyhydramnios	10293	TRAIP	OMIM:616777
HP:0001561	Polyhydramnios	202018	TAPT1	OMIM:616897
HP:0001561	Polyhydramnios	60482	SLC5A7	ORPHA:98914
HP:0001561	Polyhydramnios	4649	MYO9A	ORPHA:98914
HP:0001561	Polyhydramnios	1305	COL13A1	ORPHA:98914
HP:0001561	Polyhydramnios	1103	CHAT	ORPHA:98914
HP:0001561	Polyhydramnios	6576	SLC25A1	ORPHA:98914
HP:0001561	Polyhydramnios	6843	VAMP1	ORPHA:98914
HP:0001561	Polyhydramnios	375790	AGRN	ORPHA:98914
HP:0001561	Polyhydramnios	127833	SYT2	ORPHA:98914
HP:0001561	Polyhydramnios	6616	SNAP25	ORPHA:98914
HP:0001561	Polyhydramnios	5500	PPP1CB	OMIM:617506
HP:0001561	Polyhydramnios	7291	TWIST1	OMIM:617746
HP:0001561	Polyhydramnios	139285	AMER1	OMIM:300373
HP:0001561	Polyhydramnios	3090	HIC1	ORPHA:531
HP:0001561	Polyhydramnios	7531	YWHAE	ORPHA:531
HP:0001561	Polyhydramnios	342035	GLDN	OMIM:617194
HP:0001561	Polyhydramnios	10577	NPC2	OMIM:607625
HP:0001561	Polyhydramnios	200205	IBA57	OMIM:615330
HP:0001561	Polyhydramnios	9786	KIAA0586	OMIM:616546
HP:0001561	Polyhydramnios	51780	KDM3B	OMIM:618846
HP:0001561	Polyhydramnios	4000	LMNA	ORPHA:1662
HP:0001561	Polyhydramnios	10269	ZMPSTE24	ORPHA:1662
HP:0001561	Polyhydramnios	10269	ZMPSTE24	OMIM:275210
HP:0001561	Polyhydramnios	5297	PI4KA	ORPHA:436252
HP:0001561	Polyhydramnios	55005	RMND1	OMIM:614922
HP:0001561	Polyhydramnios	3295	HSD17B4	OMIM:261515
HP:0001561	Polyhydramnios	10225	CD96	ORPHA:1308
HP:0001561	Polyhydramnios	1302	COL11A2	ORPHA:1427
HP:0001561	Polyhydramnios	219844	HYLS1	OMIM:236680
HP:0001561	Polyhydramnios	219844	HYLS1	ORPHA:2189
HP:0001561	Polyhydramnios	3239	HOXD13	ORPHA:887
HP:0001561	Polyhydramnios	23299	BICD2	OMIM:618291
HP:0001561	Polyhydramnios	27031	NPHP3	ORPHA:3032
HP:0001561	Polyhydramnios	51626	DYNC2LI1	OMIM:617088
HP:0001561	Polyhydramnios	115286	SLC25A26	OMIM:616794
HP:0001561	Polyhydramnios	221692	PHACTR1	OMIM:618298
HP:0001561	Polyhydramnios	374654	KIF7	ORPHA:2189
HP:0001561	Polyhydramnios	29969	MDFIC	OMIM:620014
HP:0005096	Distal femoral bowing	89970	RSPRY1	ORPHA:457395
HP:0005096	Distal femoral bowing	1758	DMP1	ORPHA:289176
HP:0005096	Distal femoral bowing	5167	ENPP1	ORPHA:289176
HP:0005096	Distal femoral bowing	8200	GDF5	OMIM:201250
HP:0100057	Cone-shaped epiphyses of the 3rd toe	23102	TBC1D2B	ORPHA:397973
HP:0100068	Cone-shaped epiphyses of the 4th toe	23102	TBC1D2B	ORPHA:397973
HP:0012801	Narrow jaw	60482	SLC5A7	ORPHA:98914
HP:0012801	Narrow jaw	4649	MYO9A	ORPHA:98914
HP:0012801	Narrow jaw	1305	COL13A1	ORPHA:98914
HP:0012801	Narrow jaw	1103	CHAT	ORPHA:98914
HP:0012801	Narrow jaw	6576	SLC25A1	ORPHA:98914
HP:0012801	Narrow jaw	6843	VAMP1	ORPHA:98914
HP:0012801	Narrow jaw	375790	AGRN	ORPHA:98914
HP:0012801	Narrow jaw	127833	SYT2	ORPHA:98914
HP:0012801	Narrow jaw	6572	SLC18A3	ORPHA:98914
HP:0012801	Narrow jaw	6616	SNAP25	ORPHA:98914
HP:0012801	Narrow jaw	4654	MYOD1	OMIM:618975
HP:0012801	Narrow jaw	8812	CCNK	OMIM:618147
HP:0012801	Narrow jaw	64324	NSD1	OMIM:117550
HP:0012802	Broad jaw	203859	ANO5	ORPHA:53697
HP:0012802	Broad jaw	6452	SH3BP2	ORPHA:184
HP:0012802	Broad jaw	79753	SNIP1	OMIM:614501
HP:0012802	Broad jaw	83550	GPR101	ORPHA:963
HP:0012802	Broad jaw	9049	AIP	ORPHA:963
HP:0012802	Broad jaw	4041	LRP5	ORPHA:178377
HP:0012803	Anisometropia	473	RERE	ORPHA:494344
HP:0012803	Anisometropia	7355	SLC35A2	ORPHA:356961
HP:0012803	Anisometropia	3845	KRAS	OMIM:600268
HP:0012803	Anisometropia	164	AP1G1	OMIM:619467
HP:0012803	Anisometropia	1182	CLCN3	OMIM:619512
HP:0012803	Anisometropia	84570	COL25A1	ORPHA:91411
HP:0012803	Anisometropia	79776	ZFHX4	ORPHA:91411
HP:0012804	Corneal ulceration	6898	TAT	OMIM:276600
HP:0012804	Corneal ulceration	8518	ELP1	OMIM:223900
HP:0012804	Corneal ulceration	55768	NGLY1	OMIM:615273
HP:0012804	Corneal ulceration	26128	KIFBP	OMIM:609460
HP:0012804	Corneal ulceration	1161	ERCC8	ORPHA:90324
HP:0012804	Corneal ulceration	2074	ERCC6	ORPHA:90324
HP:0012804	Corneal ulceration	59335	PRDM12	OMIM:616488
HP:0012804	Corneal ulceration	4358	MPV17	OMIM:256810
HP:0012804	Corneal ulceration	7389	UROD	ORPHA:95159
HP:0012804	Corneal ulceration	4547	MTTP	ORPHA:14
HP:0012804	Corneal ulceration	4914	NTRK1	ORPHA:642
HP:0012804	Corneal ulceration	4914	NTRK1	OMIM:256800
HP:0012804	Corneal ulceration	4000	LMNA	ORPHA:740
HP:0012804	Corneal ulceration	10269	ZMPSTE24	ORPHA:740
HP:0012804	Corneal ulceration	2934	GSN	ORPHA:85448
HP:0012804	Corneal ulceration	54101	RIPK4	OMIM:263650
HP:0012804	Corneal ulceration	2303	FOXC2	OMIM:153400
HP:0012804	Corneal ulceration	2706	GJB2	OMIM:148210
HP:0012804	Corneal ulceration	2263	FGFR2	ORPHA:2363
HP:0012804	Corneal ulceration	2261	FGFR3	ORPHA:2363
HP:0012804	Corneal ulceration	2255	FGF10	ORPHA:2363
HP:0012804	Corneal ulceration	7390	UROS	ORPHA:79277
HP:0012804	Corneal ulceration	2623	GATA1	ORPHA:79277
HP:0012805	Iris transillumination defect	80781	COL18A1	OMIM:267750
HP:0012805	Iris transillumination defect	63915	BLOC1S5	OMIM:619172
HP:0012805	Iris transillumination defect	114902	C1QTNF5	ORPHA:67042
HP:0012805	Iris transillumination defect	11234	HPS5	OMIM:614074
HP:0012805	Iris transillumination defect	54507	ADAMTSL4	OMIM:225200
HP:0012805	Iris transillumination defect	388552	BLOC1S3	OMIM:614077
HP:0012805	Iris transillumination defect	1638	DCT	OMIM:619165
HP:0012805	Iris transillumination defect	83938	LRMDA	OMIM:615179
HP:0012805	Iris transillumination defect	11152	WDR45	OMIM:615179
HP:0012805	Iris transillumination defect	27151	CPAMD8	OMIM:617319
HP:0012805	Iris transillumination defect	91851	CHRDL1	OMIM:309300
HP:0012805	Iris transillumination defect	4286	MITF	OMIM:617306
HP:0012805	Iris transillumination defect	4157	MC1R	ORPHA:79432
HP:0012805	Iris transillumination defect	4948	OCA2	ORPHA:79432
HP:0012806	Proboscis	6469	SHH	OMIM:142945
HP:0012806	Proboscis	6469	SHH	ORPHA:220386
HP:0012806	Proboscis	6469	SHH	ORPHA:93926
HP:0012806	Proboscis	6469	SHH	ORPHA:93924
HP:0012806	Proboscis	6469	SHH	ORPHA:93925
HP:0012806	Proboscis	2260	FGFR1	ORPHA:220386
HP:0012806	Proboscis	2260	FGFR1	ORPHA:93924
HP:0012806	Proboscis	28514	DLL1	ORPHA:220386
HP:0012806	Proboscis	28514	DLL1	ORPHA:93926
HP:0012806	Proboscis	28514	DLL1	ORPHA:93924
HP:0012806	Proboscis	28514	DLL1	ORPHA:93925
HP:0012806	Proboscis	10735	STAG2	ORPHA:220386
HP:0012806	Proboscis	10735	STAG2	ORPHA:93925
HP:0012806	Proboscis	2253	FGF8	ORPHA:220386
HP:0012806	Proboscis	2253	FGF8	ORPHA:93926
HP:0012806	Proboscis	2253	FGF8	ORPHA:93924
HP:0012806	Proboscis	2253	FGF8	ORPHA:93925
HP:0012806	Proboscis	8243	SMC1A	ORPHA:220386
HP:0012806	Proboscis	6496	SIX3	ORPHA:220386
HP:0012806	Proboscis	6496	SIX3	ORPHA:93926
HP:0012806	Proboscis	6496	SIX3	ORPHA:93924
HP:0012806	Proboscis	6496	SIX3	ORPHA:93925
HP:0012806	Proboscis	6496	SIX3	OMIM:157170
HP:0012806	Proboscis	7050	TGIF1	ORPHA:220386
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93926
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93924
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93925
HP:0012806	Proboscis	4838	NODAL	ORPHA:220386
HP:0012806	Proboscis	4838	NODAL	ORPHA:93926
HP:0012806	Proboscis	4838	NODAL	ORPHA:93924
HP:0012806	Proboscis	4838	NODAL	ORPHA:93925
HP:0012806	Proboscis	7546	ZIC2	ORPHA:220386
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93926
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93924
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93925
HP:0012806	Proboscis	6491	STIL	ORPHA:220386
HP:0012806	Proboscis	6491	STIL	ORPHA:93926
HP:0012806	Proboscis	6491	STIL	ORPHA:93924
HP:0012806	Proboscis	6491	STIL	ORPHA:93925
HP:0012806	Proboscis	2619	GAS1	ORPHA:220386
HP:0012806	Proboscis	2619	GAS1	ORPHA:93926
HP:0012806	Proboscis	2619	GAS1	ORPHA:93924
HP:0012806	Proboscis	2619	GAS1	ORPHA:93925
HP:0012806	Proboscis	84976	DISP1	ORPHA:220386
HP:0012806	Proboscis	84976	DISP1	ORPHA:93926
HP:0012806	Proboscis	84976	DISP1	ORPHA:93924
HP:0012806	Proboscis	84976	DISP1	ORPHA:93925
HP:0012806	Proboscis	2736	GLI2	ORPHA:220386
HP:0012806	Proboscis	2736	GLI2	ORPHA:93926
HP:0012806	Proboscis	2736	GLI2	ORPHA:93924
HP:0012806	Proboscis	2736	GLI2	ORPHA:93925
HP:0012806	Proboscis	8928	FOXH1	ORPHA:220386
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93926
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93924
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93925
HP:0012806	Proboscis	5727	PTCH1	ORPHA:220386
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93926
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93924
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93925
HP:0012806	Proboscis	50937	CDON	ORPHA:220386
HP:0012806	Proboscis	50937	CDON	ORPHA:93926
HP:0012806	Proboscis	50937	CDON	ORPHA:93924
HP:0012806	Proboscis	50937	CDON	ORPHA:93925
HP:0012806	Proboscis	23007	PLCH1	ORPHA:93925
HP:0012806	Proboscis	23007	PLCH1	OMIM:619895
HP:0012808	Abnormal nasal base norphology	9896	FIG4	ORPHA:3472
HP:0012808	Abnormal nasal base norphology	55697	VAC14	ORPHA:3472
HP:0012808	Abnormal nasal base norphology	29081	METTL5	OMIM:618665
HP:0012808	Abnormal nasal base norphology	1836	SLC26A2	ORPHA:56304
HP:0012808	Abnormal nasal base norphology	6595	SMARCA2	OMIM:601358
HP:0012808	Abnormal nasal base norphology	25942	SIN3A	ORPHA:94065
HP:0012808	Abnormal nasal base norphology	3977	LIFR	OMIM:601559
HP:0012808	Abnormal nasal base norphology	23404	EXOSC2	OMIM:617763
HP:0012808	Abnormal nasal base norphology	57231	SNX14	OMIM:616354
HP:0012808	Abnormal nasal base norphology	57231	SNX14	ORPHA:397709
HP:0012808	Abnormal nasal base norphology	23461	ABCA5	OMIM:135400
HP:0012808	Abnormal nasal base norphology	63035	BCORL1	OMIM:301029
HP:0012808	Abnormal nasal base norphology	51111	KMT5B	OMIM:617788
HP:0012808	Abnormal nasal base norphology	6597	SMARCA4	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6598	SMARCB1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6659	SOX4	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	8289	ARID1A	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	5977	DPF2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6601	SMARCC2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6602	SMARCD1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	57492	ARID1B	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	196528	ARID2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6605	SMARCE1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6664	SOX11	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	23040	MYT1L	OMIM:616521
HP:0012808	Abnormal nasal base norphology	8239	USP9X	ORPHA:480880
HP:0012808	Abnormal nasal base norphology	526	ATP6V1B2	ORPHA:79500
HP:0012808	Abnormal nasal base norphology	57465	TBC1D24	ORPHA:79500
HP:0012809	Narrow nasal base	9896	FIG4	ORPHA:3472
HP:0012809	Narrow nasal base	55697	VAC14	ORPHA:3472
HP:0012809	Narrow nasal base	29081	METTL5	OMIM:618665
HP:0012810	Wide nasal base	1836	SLC26A2	ORPHA:56304
HP:0012810	Wide nasal base	6595	SMARCA2	OMIM:601358
HP:0012810	Wide nasal base	25942	SIN3A	ORPHA:94065
HP:0012810	Wide nasal base	3977	LIFR	OMIM:601559
HP:0012810	Wide nasal base	29081	METTL5	OMIM:618665
HP:0012810	Wide nasal base	23404	EXOSC2	OMIM:617763
HP:0012810	Wide nasal base	57231	SNX14	OMIM:616354
HP:0012810	Wide nasal base	57231	SNX14	ORPHA:397709
HP:0012810	Wide nasal base	23461	ABCA5	OMIM:135400
HP:0012810	Wide nasal base	63035	BCORL1	OMIM:301029
HP:0012810	Wide nasal base	51111	KMT5B	OMIM:617788
HP:0012810	Wide nasal base	6597	SMARCA4	ORPHA:1465
HP:0012810	Wide nasal base	6598	SMARCB1	ORPHA:1465
HP:0012810	Wide nasal base	6659	SOX4	ORPHA:1465
HP:0012810	Wide nasal base	8289	ARID1A	ORPHA:1465
HP:0012810	Wide nasal base	5977	DPF2	ORPHA:1465
HP:0012810	Wide nasal base	6601	SMARCC2	ORPHA:1465
HP:0012810	Wide nasal base	6602	SMARCD1	ORPHA:1465
HP:0012810	Wide nasal base	57492	ARID1B	ORPHA:1465
HP:0012810	Wide nasal base	196528	ARID2	ORPHA:1465
HP:0012810	Wide nasal base	6605	SMARCE1	ORPHA:1465
HP:0012810	Wide nasal base	6664	SOX11	ORPHA:1465
HP:0012810	Wide nasal base	23040	MYT1L	OMIM:616521
HP:0012810	Wide nasal base	8239	USP9X	ORPHA:480880
HP:0012810	Wide nasal base	526	ATP6V1B2	ORPHA:79500
HP:0012810	Wide nasal base	57465	TBC1D24	ORPHA:79500
HP:0012811	Wide nasal ridge	10943	MSL3	OMIM:301032
HP:0012811	Wide nasal ridge	6134	RPL10	ORPHA:459070
HP:0012811	Wide nasal ridge	3190	HNRNPK	OMIM:616580
HP:0012811	Wide nasal ridge	23512	SUZ12	OMIM:618786
HP:0012811	Wide nasal ridge	29081	METTL5	OMIM:618665
HP:0012811	Wide nasal ridge	11128	POLR3A	ORPHA:3455
HP:0012811	Wide nasal ridge	9179	AP4M1	OMIM:612936
HP:0012811	Wide nasal ridge	60529	ALX4	OMIM:609597
HP:0012811	Wide nasal ridge	60529	ALX4	OMIM:613451
HP:0012811	Wide nasal ridge	79718	TBL1XR1	ORPHA:487825
HP:0012812	Fullness of paranasal tissue	2697	GJA1	OMIM:218400
HP:0012812	Fullness of paranasal tissue	56172	ANKH	OMIM:123000
HP:0012813	Unilateral breast hypoplasia	1947	EFNB1	OMIM:304110
HP:0012813	Unilateral breast hypoplasia	8239	USP9X	OMIM:300968
HP:0012814	Bilateral breast hypoplasia	8626	TP63	ORPHA:69085
HP:0012814	Bilateral breast hypoplasia	2488	FSHB	ORPHA:52901
HP:0012814	Bilateral breast hypoplasia	51199	NIN	ORPHA:319675
HP:0012815	Hypoplastic female external genitalia	23476	BRD4	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	9126	SMC3	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	8243	SMC1A	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	25836	NIPBL	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	25836	NIPBL	OMIM:122470
HP:0012815	Hypoplastic female external genitalia	55869	HDAC8	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	5885	RAD21	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	10664	CTCF	ORPHA:363611
HP:0012815	Hypoplastic female external genitalia	2100	ESR2	OMIM:618187
HP:0012815	Hypoplastic female external genitalia	3664	IRF6	ORPHA:1300
HP:0012815	Hypoplastic female external genitalia	3664	IRF6	OMIM:119500
HP:0012815	Hypoplastic female external genitalia	29957	SLC25A24	OMIM:612289
HP:0012815	Hypoplastic female external genitalia	8626	TP63	OMIM:129400
HP:0012815	Hypoplastic female external genitalia	23347	SMCHD1	OMIM:603457
HP:0012815	Hypoplastic female external genitalia	9896	FIG4	ORPHA:3472
HP:0012815	Hypoplastic female external genitalia	55697	VAC14	ORPHA:3472
HP:0012815	Hypoplastic female external genitalia	54101	RIPK4	OMIM:263650
HP:0012815	Hypoplastic female external genitalia	89910	UBE3B	OMIM:244450
HP:0012815	Hypoplastic female external genitalia	9427	ECEL1	OMIM:615065
HP:0012815	Hypoplastic female external genitalia	2263	FGFR2	OMIM:207410
HP:0012815	Hypoplastic female external genitalia	2263	FGFR2	OMIM:123790
HP:0012815	Hypoplastic female external genitalia	145173	B3GLCT	OMIM:261540
HP:0012815	Hypoplastic female external genitalia	145173	B3GLCT	ORPHA:709
HP:0012815	Hypoplastic female external genitalia	55012	PPP2R3C	OMIM:618419
HP:0012815	Hypoplastic female external genitalia	25886	POC1A	OMIM:614813
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:398069
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	2571	GAD1	OMIM:619124
HP:0012815	Hypoplastic female external genitalia	4998	ORC1	OMIM:224690
HP:0012815	Hypoplastic female external genitalia	4998	ORC1	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	1857	DVL3	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	7474	WNT5A	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	1855	DVL1	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	22931	RAB18	OMIM:614222
HP:0012815	Hypoplastic female external genitalia	22931	RAB18	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	117581	TWIST2	OMIM:209885
HP:0012815	Hypoplastic female external genitalia	6492	SIM1	ORPHA:398079
HP:0012815	Hypoplastic female external genitalia	60	ACTB	ORPHA:64755
HP:0012815	Hypoplastic female external genitalia	26040	SETBP1	OMIM:269150
HP:0012815	Hypoplastic female external genitalia	23594	ORC6	OMIM:613803
HP:0012815	Hypoplastic female external genitalia	23594	ORC6	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	81620	CDT1	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	8318	CDC45	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	990	CDC6	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	51053	GMNN	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	25782	RAB3GAP2	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	128637	TBC1D20	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	7681	MKRN3	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	3653	IPW	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	791114	PWRN1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	8924	HERC2	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	145624	PWAR1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	23742	NPAP1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	338433	SNORD115-1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	2535	FZD2	OMIM:164745
HP:0012815	Hypoplastic female external genitalia	10236	HNRNPR	OMIM:620073
HP:0012815	Hypoplastic female external genitalia	6595	SMARCA2	OMIM:619293
HP:0012815	Hypoplastic female external genitalia	64840	PORCN	OMIM:305600
HP:0012815	Hypoplastic female external genitalia	367	AR	OMIM:300068
HP:0012815	Hypoplastic female external genitalia	5447	POR	OMIM:201750
HP:0012815	Hypoplastic female external genitalia	92002	CCNQ	ORPHA:140952
HP:0012815	Hypoplastic female external genitalia	92002	CCNQ	OMIM:300707
HP:0012815	Hypoplastic female external genitalia	23522	KAT6B	OMIM:606170
HP:0012815	Hypoplastic female external genitalia	55636	CHD7	OMIM:214800
HP:0012815	Hypoplastic female external genitalia	55636	CHD7	ORPHA:138
HP:0012815	Hypoplastic female external genitalia	5000	ORC4	OMIM:613800
HP:0012815	Hypoplastic female external genitalia	9723	SEMA3E	ORPHA:138
HP:0012815	Hypoplastic female external genitalia	64359	NXN	ORPHA:1507
HP:0012815	Hypoplastic female external genitalia	4920	ROR2	ORPHA:1507
HP:0012815	Hypoplastic female external genitalia	7841	MOGS	OMIM:606056
HP:0012815	Hypoplastic female external genitalia	5881	RAC3	OMIM:618577
HP:0012817	Noncompaction cardiomyopathy	57534	MIB1	OMIM:615092
HP:0012817	Noncompaction cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0012817	Noncompaction cardiomyopathy	6262	RYR2	OMIM:115000
HP:0012817	Noncompaction cardiomyopathy	4841	NONO	OMIM:300967
HP:0012817	Noncompaction cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0012817	Noncompaction cardiomyopathy	7168	TPM1	OMIM:611878
HP:0012817	Noncompaction cardiomyopathy	4633	MYL2	OMIM:619424
HP:0012817	Noncompaction cardiomyopathy	93649	MYOCD	OMIM:618719
HP:0012817	Noncompaction cardiomyopathy	6389	SDHA	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	131118	DNAJC19	OMIM:610198
HP:0012817	Noncompaction cardiomyopathy	114803	MYSM1	ORPHA:508542
HP:0012817	Noncompaction cardiomyopathy	1837	DTNA	OMIM:604169
HP:0012817	Noncompaction cardiomyopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0012817	Noncompaction cardiomyopathy	100151683	RNU4ATAC	OMIM:616651
HP:0012819	Myocarditis	7428	VHL	ORPHA:892
HP:0012819	Myocarditis	595	CCND1	ORPHA:892
HP:0012819	Myocarditis	2879	GPX4	ORPHA:93317
HP:0012819	Myocarditis	2879	GPX4	OMIM:250220
HP:0012819	Myocarditis	81031	SLC2A10	ORPHA:3342
HP:0012819	Myocarditis	27068	PPA2	OMIM:617222
HP:0012819	Myocarditis	3662	IRF4	ORPHA:3452
HP:0002601	Paresis of extensor muscles of the big toe	2643	GCH1	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	4929	NR4A2	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	3615	IMPDH2	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	3315	HSPB1	OMIM:608634
HP:0002601	Paresis of extensor muscles of the big toe	26353	HSPB8	OMIM:158590
HP:0002601	Paresis of extensor muscles of the big toe	9927	MFN2	ORPHA:99947
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6584	SLC22A5	ORPHA:158
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5649	RELN	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5649	RELN	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	64780	MICAL1	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9211	LGI1	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9211	LGI1	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	OMIM:607745
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	OMIM:613721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	51083	GAL	OMIM:616461
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57107	PDSS2	ORPHA:255249
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57107	PDSS2	OMIM:614652
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27235	COQ2	ORPHA:255249
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	OMIM:245570
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	ORPHA:163721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23241	PACS2	OMIM:618067
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57468	SLC12A5	OMIM:616645
HP:0007334	Bilateral tonic-clonic seizure with focal onset	26047	CNTNAP2	OMIM:610042
HP:0007334	Bilateral tonic-clonic seizure with focal onset	26047	CNTNAP2	ORPHA:163681
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27286	SRPX2	ORPHA:163721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27286	SRPX2	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23334	SZT2	OMIM:615476
HP:0007334	Bilateral tonic-clonic seizure with focal onset	53616	ADAM22	OMIM:617933
HP:0007334	Bilateral tonic-clonic seizure with focal onset	123263	MTFMT	OMIM:614947
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6334	SCN8A	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6334	SCN8A	OMIM:614558
HP:0007334	Bilateral tonic-clonic seizure with focal onset	112476	PRRT2	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3785	KCNQ2	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3786	KCNQ3	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2566	GABRG2	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	8496	PPFIBP1	OMIM:620024
HP:0007334	Bilateral tonic-clonic seizure with focal onset	378884	NHLRC1	ORPHA:501
HP:0007334	Bilateral tonic-clonic seizure with focal onset	378884	NHLRC1	OMIM:254780
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7957	EPM2A	ORPHA:501
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7957	EPM2A	OMIM:254780
HP:0007334	Bilateral tonic-clonic seizure with focal onset	83480	PUS3	ORPHA:488627
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9681	DEPDC5	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5515	PPP2CA	OMIM:618354
HP:0007334	Bilateral tonic-clonic seizure with focal onset	387119	CEP85L	OMIM:618873
HP:0007334	Bilateral tonic-clonic seizure with focal onset	51124	IER3IP1	OMIM:614231
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3745	KCNB1	OMIM:616056
HP:0007334	Bilateral tonic-clonic seizure with focal onset	10991	SLC38A3	OMIM:619881
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9896	FIG4	OMIM:612691
HP:0007334	Bilateral tonic-clonic seizure with focal onset	477	ATP1A2	OMIM:619605
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3778	KCNMA1	OMIM:617643
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23031	MAST3	OMIM:620115
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3767	KCNJ11	OMIM:618856
HP:0007334	Bilateral tonic-clonic seizure with focal onset	81603	TRIM8	OMIM:619428
HP:0007334	Bilateral tonic-clonic seizure with focal onset	154881	KCTD7	OMIM:611726
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5660	PSAP	OMIM:610539
HP:0007334	Bilateral tonic-clonic seizure with focal onset	8085	KMT2D	OMIM:147920
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7403	KDM6A	OMIM:147920
HP:0002604	Gastrointestinal telangiectasia	80169	CTC1	OMIM:612199
HP:0002604	Gastrointestinal telangiectasia	94	ACVRL1	OMIM:600376
HP:0002604	Gastrointestinal telangiectasia	2022	ENG	OMIM:187300
HP:0002605	Hepatic necrosis	4358	MPV17	OMIM:256810
HP:0002605	Hepatic necrosis	37	ACADVL	OMIM:201475
HP:0002605	Hepatic necrosis	374354	NHLRC2	OMIM:618278
HP:0002605	Hepatic necrosis	1716	DGUOK	OMIM:251880
HP:0002605	Hepatic necrosis	3033	HADH	OMIM:231530
HP:0002605	Hepatic necrosis	3033	HADH	ORPHA:71212
HP:0002605	Hepatic necrosis	4233	MET	ORPHA:33402
HP:0002605	Hepatic necrosis	1499	CTNNB1	ORPHA:33402
HP:0002605	Hepatic necrosis	6392	SDHD	ORPHA:100093
HP:0002605	Hepatic necrosis	26277	TINF2	OMIM:127550
HP:0002605	Hepatic necrosis	7012	TERC	OMIM:127550
HP:0002605	Hepatic necrosis	7015	TERT	OMIM:127550
HP:0002605	Hepatic necrosis	2108	ETFA	OMIM:231680
HP:0002605	Hepatic necrosis	2109	ETFB	OMIM:231680
HP:0002605	Hepatic necrosis	2110	ETFDH	OMIM:231680
HP:0002607	Bowel incontinence	2261	FGFR3	OMIM:616482
HP:0002607	Bowel incontinence	23259	DDHD2	OMIM:615033
HP:0002607	Bowel incontinence	23446	SLC44A1	OMIM:618868
HP:0002607	Bowel incontinence	4001	LMNB1	OMIM:169500
HP:0002607	Bowel incontinence	81839	VANGL1	ORPHA:3027
HP:0002607	Bowel incontinence	80199	FUZ	ORPHA:3027
HP:0002607	Bowel incontinence	9839	ZEB2	ORPHA:261537
HP:0002607	Bowel incontinence	9839	ZEB2	ORPHA:261552
HP:0002607	Bowel incontinence	23503	ZFYVE26	OMIM:270700
HP:0002607	Bowel incontinence	5354	PLP1	ORPHA:99015
HP:0002607	Bowel incontinence	10479	SLC9A6	OMIM:300243
HP:0002607	Bowel incontinence	613	BCR	ORPHA:261330
HP:0002607	Bowel incontinence	1399	CRKL	ORPHA:261330
HP:0002607	Bowel incontinence	5594	MAPK1	ORPHA:261330
HP:0002607	Bowel incontinence	79152	FA2H	ORPHA:171629
HP:0002607	Bowel incontinence	5610	EIF2AK2	OMIM:618877
HP:0002607	Bowel incontinence	6299	SALL1	ORPHA:857
HP:0002607	Bowel incontinence	51339	DACT1	ORPHA:857
HP:0002607	Bowel incontinence	6904	TBCD	ORPHA:496641
HP:0002607	Bowel incontinence	6904	TBCD	OMIM:617193
HP:0002607	Bowel incontinence	410	ARSA	ORPHA:309271
HP:0002607	Bowel incontinence	5660	PSAP	ORPHA:309271
HP:0002607	Bowel incontinence	28982	FLVCR1	ORPHA:88628
HP:0002607	Bowel incontinence	339855	KY	OMIM:617114
HP:0002607	Bowel incontinence	215	ABCD1	ORPHA:139399
HP:0002607	Bowel incontinence	215	ABCD1	OMIM:300100
HP:0002607	Bowel incontinence	7415	VCP	ORPHA:329478
HP:0002607	Bowel incontinence	1312	COMT	ORPHA:567
HP:0002607	Bowel incontinence	221037	JMJD1C	ORPHA:567
HP:0002607	Bowel incontinence	2812	GP1BB	ORPHA:567
HP:0002607	Bowel incontinence	6239	RREB1	ORPHA:567
HP:0002607	Bowel incontinence	6899	TBX1	ORPHA:567
HP:0002607	Bowel incontinence	7290	HIRA	ORPHA:567
HP:0002607	Bowel incontinence	9632	SEC24C	ORPHA:567
HP:0002607	Bowel incontinence	7353	UFD1	ORPHA:567
HP:0002607	Bowel incontinence	421	ARVCF	ORPHA:567
HP:0002607	Bowel incontinence	8626	TP63	ORPHA:93930
HP:0002607	Bowel incontinence	3670	ISL1	ORPHA:93930
HP:0002607	Bowel incontinence	2332	FMR1	ORPHA:93256
HP:0002607	Bowel incontinence	2332	FMR1	OMIM:300623
HP:0002607	Bowel incontinence	25778	DSTYK	ORPHA:101003
HP:0002607	Bowel incontinence	6253	RTN2	ORPHA:100993
HP:0002607	Bowel incontinence	51271	UBAP1	ORPHA:100993
HP:0002607	Bowel incontinence	5654	HTRA1	OMIM:600142
HP:0002607	Bowel incontinence	80217	CFAP43	OMIM:236690
HP:0002607	Bowel incontinence	6329	SCN4A	ORPHA:682
HP:0002607	Bowel incontinence	23400	ATP13A2	ORPHA:306674
HP:0002607	Bowel incontinence	9860	LRIG2	ORPHA:2704
HP:0002607	Bowel incontinence	60495	HPSE2	ORPHA:2704
HP:0002607	Bowel incontinence	10528	NOP56	ORPHA:276198
HP:0002607	Bowel incontinence	1760	DMPK	ORPHA:589821
HP:0002607	Bowel incontinence	23162	MAPK8IP3	OMIM:618443
HP:0002607	Bowel incontinence	2132	EXT2	OMIM:616682
HP:0002608	Celiac disease	23314	SATB2	ORPHA:576283
HP:0002608	Celiac disease	9968	MED12	OMIM:301068
HP:0002608	Celiac disease	51322	WAC	ORPHA:284169
HP:0002608	Celiac disease	51256	TBC1D7	OMIM:248000
HP:0002608	Celiac disease	2859	GPR35	ORPHA:171
HP:0002608	Celiac disease	10507	SEMA4D	ORPHA:171
HP:0002608	Celiac disease	4485	MST1	ORPHA:171
HP:0002608	Celiac disease	6925	TCF4	ORPHA:171
HP:0002608	Celiac disease	10526	IPO8	OMIM:619472
HP:0002608	Celiac disease	8651	SOCS1	OMIM:619375
HP:0002608	Celiac disease	6774	STAT3	OMIM:615952
HP:0002608	Celiac disease	10625	IVNS1ABP	OMIM:618969
HP:0002608	Celiac disease	6777	STAT5B	OMIM:618985
HP:0002608	Celiac disease	3117	HLA-DQA1	OMIM:212750
HP:0002608	Celiac disease	3119	HLA-DQB1	OMIM:212750
HP:0002608	Celiac disease	3514	IGKC	ORPHA:183675
HP:0002608	Celiac disease	3501	IGHG2	ORPHA:183675
HP:0002608	Celiac disease	3594	IL12RB1	ORPHA:186
HP:0002608	Celiac disease	23534	TNPO3	ORPHA:186
HP:0002608	Celiac disease	3592	IL12A	ORPHA:186
HP:0002608	Celiac disease	6689	SPIB	ORPHA:186
HP:0002608	Celiac disease	5450	POU2AF1	ORPHA:186
HP:0002608	Celiac disease	9966	TNFSF15	ORPHA:186
HP:0002608	Celiac disease	79258	MMEL1	ORPHA:186
HP:0002608	Celiac disease	3663	IRF5	ORPHA:186
HP:0002608	Celiac disease	10847	SRCAP	OMIM:136140
HP:0002608	Celiac disease	10847	SRCAP	ORPHA:2044
HP:0002608	Celiac disease	29998	BICRA	OMIM:619325
HP:0002608	Celiac disease	4953	ODC1	ORPHA:544488
HP:0002608	Celiac disease	51085	MLXIPL	OMIM:194050
HP:0002608	Celiac disease	2006	ELN	OMIM:194050
HP:0012822	Bilateral vocal cord paresis	667	DST	OMIM:614653
HP:0012823	Clinical modifier	80144	FRAS1	ORPHA:2052
HP:0012823	Clinical modifier	55627	SMPD4	OMIM:618622
HP:0012823	Clinical modifier	2731	GLDC	OMIM:605899
HP:0012823	Clinical modifier	275	AMT	OMIM:605899
HP:0012823	Clinical modifier	5395	PMS2	ORPHA:144
HP:0012823	Clinical modifier	27030	MLH3	ORPHA:144
HP:0012823	Clinical modifier	7048	TGFBR2	ORPHA:144
HP:0012823	Clinical modifier	5378	PMS1	ORPHA:144
HP:0012823	Clinical modifier	80816	ASXL3	OMIM:615485
HP:0012823	Clinical modifier	4056	LTC4S	OMIM:614037
HP:0012823	Clinical modifier	10084	PQBP1	ORPHA:93946
HP:0012823	Clinical modifier	5979	RET	ORPHA:99803
HP:0012823	Clinical modifier	429	ASCL1	ORPHA:99803
HP:0012823	Clinical modifier	3899	AFF3	OMIM:619297
HP:0012823	Clinical modifier	150094	SIK1	OMIM:616341
HP:0012823	Clinical modifier	55681	SCYL2	OMIM:618766
HP:0012823	Clinical modifier	10013	HDAC6	ORPHA:163966
HP:0012823	Clinical modifier	128674	PROKR2	ORPHA:95496
HP:0012823	Clinical modifier	89884	LHX4	ORPHA:95496
HP:0012823	Clinical modifier	6091	ROBO1	ORPHA:95496
HP:0012823	Clinical modifier	8820	HESX1	ORPHA:95496
HP:0012823	Clinical modifier	23432	GPR161	ORPHA:95496
HP:0012823	Clinical modifier	10436	EMG1	ORPHA:1270
HP:0012823	Clinical modifier	4638	MYLK	ORPHA:2241
HP:0012823	Clinical modifier	2239	GPC4	ORPHA:373
HP:0012823	Clinical modifier	2719	GPC3	ORPHA:373
HP:0012823	Clinical modifier	54916	TMEM260	OMIM:617478
HP:0012823	Clinical modifier	51645	PPIL1	OMIM:619301
HP:0012823	Clinical modifier	8799	PEX11B	ORPHA:912
HP:0012823	Clinical modifier	56052	ALG1	OMIM:608540
HP:0012823	Clinical modifier	9488	PIGB	OMIM:618580
HP:0012823	Clinical modifier	5980	REV3L	ORPHA:570
HP:0012823	Clinical modifier	23129	PLXND1	ORPHA:570
HP:0012823	Clinical modifier	2917	GRM7	OMIM:618922
HP:0012823	Clinical modifier	197131	UBR1	ORPHA:2315
HP:0012823	Clinical modifier	4905	NSF	OMIM:619340
HP:0012823	Clinical modifier	2313	FLI1	ORPHA:2308
HP:0012823	Clinical modifier	8087	FXR1	OMIM:618822
HP:0012823	Clinical modifier	8567	MADD	OMIM:619004
HP:0012823	Clinical modifier	55278	QRSL1	OMIM:618835
HP:0012823	Clinical modifier	283459	GATC	OMIM:618839
HP:0012823	Clinical modifier	27040	LAT	OMIM:617514
HP:0012823	Clinical modifier	55191	NADSYN1	OMIM:618845
HP:0012823	Clinical modifier	10225	CD96	ORPHA:1308
HP:0012823	Clinical modifier	23529	CLCF1	ORPHA:1545
HP:0012823	Clinical modifier	9244	CRLF1	ORPHA:1545
HP:0012823	Clinical modifier	28952	CCDC22	ORPHA:7
HP:0012823	Clinical modifier	9054	NFS1	OMIM:619386
HP:0012823	Clinical modifier	131377	KLHL40	OMIM:615348
HP:0012823	Clinical modifier	3651	PDX1	OMIM:260370
HP:0012823	Clinical modifier	23019	CNOT1	OMIM:618500
HP:0012823	Clinical modifier	776	CACNA1D	OMIM:615474
HP:0012823	Clinical modifier	776	CACNA1D	OMIM:614896
HP:0012823	Clinical modifier	2304	FOXE1	OMIM:241850
HP:0012823	Clinical modifier	5913	RAPSN	OMIM:616326
HP:0012823	Clinical modifier	7299	TYR	OMIM:203100
HP:0012823	Clinical modifier	121391	KRT74	OMIM:194300
HP:0012823	Clinical modifier	121391	KRT74	OMIM:614929
HP:0012823	Clinical modifier	4897	NRCAM	OMIM:619833
HP:0012823	Clinical modifier	23498	HAAO	OMIM:617660
HP:0012823	Clinical modifier	9578	CDC42BPB	OMIM:619841
HP:0012823	Clinical modifier	1855	DVL1	OMIM:616331
HP:0012823	Clinical modifier	1855	DVL1	OMIM:180700
HP:0012823	Clinical modifier	8942	KYNU	OMIM:617661
HP:0012823	Clinical modifier	2137	EXTL3	OMIM:617425
HP:0012823	Clinical modifier	27229	TUBGCP4	OMIM:616335
HP:0012823	Clinical modifier	341640	FREM2	OMIM:617666
HP:0012823	Clinical modifier	84466	MEGF10	OMIM:614399
HP:0012823	Clinical modifier	25790	CFAP45	OMIM:619608
HP:0012823	Clinical modifier	1288	COL4A6	OMIM:300914
HP:0012823	Clinical modifier	3149	HMGB3	OMIM:300915
HP:0012823	Clinical modifier	318	NUDT2	OMIM:619844
HP:0012823	Clinical modifier	57545	CC2D2A	OMIM:619845
HP:0012823	Clinical modifier	57545	CC2D2A	OMIM:619111
HP:0012823	Clinical modifier	3508	IGHMBP2	OMIM:604320
HP:0012823	Clinical modifier	57082	KNL1	OMIM:604321
HP:0012823	Clinical modifier	2188	FANCF	OMIM:603467
HP:0012823	Clinical modifier	90	ACVR1	OMIM:135100
HP:0012823	Clinical modifier	4646	MYO6	OMIM:607821
HP:0012823	Clinical modifier	9071	CLDN10	OMIM:617671
HP:0012823	Clinical modifier	1020	CDK5	OMIM:616342
HP:0012823	Clinical modifier	1777	DNASE2	OMIM:619858
HP:0012823	Clinical modifier	54567	DLL4	OMIM:616589
HP:0012823	Clinical modifier	64359	NXN	OMIM:618529
HP:0012823	Clinical modifier	84100	ARL6	OMIM:209900
HP:0012823	Clinical modifier	84100	ARL6	OMIM:600151
HP:0012823	Clinical modifier	79140	CCDC28B	OMIM:209900
HP:0012823	Clinical modifier	582	BBS1	OMIM:209900
HP:0012823	Clinical modifier	1528	CYB5A	OMIM:250790
HP:0012823	Clinical modifier	25778	DSTYK	OMIM:610805
HP:0012823	Clinical modifier	26154	ABCA12	OMIM:601277
HP:0012823	Clinical modifier	26154	ABCA12	OMIM:242500
HP:0012823	Clinical modifier	4620	MYH2	OMIM:605637
HP:0012823	Clinical modifier	9401	RECQL4	OMIM:218600
HP:0012823	Clinical modifier	10484	SEC23A	OMIM:607812
HP:0012823	Clinical modifier	6926	TBX3	OMIM:181450
HP:0012823	Clinical modifier	204219	CERS3	OMIM:615023
HP:0012823	Clinical modifier	285848	PNPLA1	OMIM:615024
HP:0012823	Clinical modifier	7092	TLL1	OMIM:613087
HP:0012823	Clinical modifier	8550	MAPKAPK5	OMIM:619869
HP:0012823	Clinical modifier	168507	PKD1L1	OMIM:617205
HP:0012823	Clinical modifier	51761	ATP8A2	OMIM:615268
HP:0012823	Clinical modifier	1474	CST6	OMIM:618535
HP:0012823	Clinical modifier	63901	FAM111A	OMIM:602361
HP:0012823	Clinical modifier	126410	CYP4F22	OMIM:604777
HP:0012823	Clinical modifier	5337	PLD1	OMIM:212093
HP:0012823	Clinical modifier	5317	PKP1	OMIM:604536
HP:0012823	Clinical modifier	57822	GRHL3	OMIM:606713
HP:0012823	Clinical modifier	1187	CLCNKA	OMIM:613090
HP:0012823	Clinical modifier	2072	ERCC4	OMIM:615272
HP:0012823	Clinical modifier	1770	DNAH9	OMIM:618300
HP:0012823	Clinical modifier	4284	MIP	OMIM:615274
HP:0012823	Clinical modifier	8558	CDK10	OMIM:617694
HP:0012823	Clinical modifier	808	CALM3	OMIM:618782
HP:0012823	Clinical modifier	57167	SALL4	OMIM:147750
HP:0012823	Clinical modifier	57167	SALL4	OMIM:607323
HP:0012823	Clinical modifier	27125	AFF4	OMIM:616368
HP:0012823	Clinical modifier	1909	EDNRA	OMIM:616367
HP:0012823	Clinical modifier	79770	TXNDC15	OMIM:619879
HP:0012823	Clinical modifier	5727	PTCH1	OMIM:610828
HP:0012823	Clinical modifier	10329	RXYLT1	OMIM:615041
HP:0012823	Clinical modifier	8818	DPM2	OMIM:615042
HP:0012823	Clinical modifier	30813	VSX1	OMIM:614195
HP:0012823	Clinical modifier	2263	FGFR2	OMIM:123790
HP:0012823	Clinical modifier	2263	FGFR2	OMIM:614592
HP:0012823	Clinical modifier	2263	FGFR2	OMIM:101200
HP:0012823	Clinical modifier	2674	GFRA1	OMIM:619887
HP:0012823	Clinical modifier	9772	TMEM94	OMIM:618316
HP:0012823	Clinical modifier	1910	EDNRB	OMIM:600155
HP:0012823	Clinical modifier	1910	EDNRB	OMIM:600501
HP:0012823	Clinical modifier	442721	LMOD2	OMIM:619897
HP:0012823	Clinical modifier	23483	TGDS	OMIM:616145
HP:0012823	Clinical modifier	6603	SMARCD2	OMIM:617475
HP:0012823	Clinical modifier	285203	EOGT	OMIM:615297
HP:0012823	Clinical modifier	4087	SMAD2	OMIM:619657
HP:0012823	Clinical modifier	79648	MCPH1	OMIM:251200
HP:0012823	Clinical modifier	81839	VANGL1	OMIM:600145
HP:0012823	Clinical modifier	2071	ERCC3	OMIM:616390
HP:0012823	Clinical modifier	85300	ATCAY	OMIM:601238
HP:0012823	Clinical modifier	404672	GTF2H5	OMIM:616395
HP:0012823	Clinical modifier	58497	PRUNE1	OMIM:617481
HP:0012823	Clinical modifier	54101	RIPK4	OMIM:263650
HP:0012823	Clinical modifier	9427	ECEL1	OMIM:615065
HP:0012823	Clinical modifier	22930	RAB3GAP1	OMIM:619420
HP:0012823	Clinical modifier	4286	MITF	OMIM:103500
HP:0012823	Clinical modifier	4286	MITF	OMIM:617306
HP:0012823	Clinical modifier	4286	MITF	OMIM:193510
HP:0012823	Clinical modifier	7516	XRCC2	OMIM:617247
HP:0012823	Clinical modifier	64132	XYLT2	OMIM:605822
HP:0012823	Clinical modifier	6134	RPL10	OMIM:300998
HP:0012823	Clinical modifier	8925	HERC1	OMIM:617011
HP:0012823	Clinical modifier	1281	COL3A1	OMIM:618343
HP:0012823	Clinical modifier	10046	MAMLD1	OMIM:300758
HP:0012823	Clinical modifier	72	ACTG2	OMIM:619431
HP:0012823	Clinical modifier	56203	LMOD3	OMIM:616165
HP:0012823	Clinical modifier	5309	PITX3	OMIM:610623
HP:0012823	Clinical modifier	4838	NODAL	OMIM:270100
HP:0012823	Clinical modifier	7681	MKRN3	OMIM:176270
HP:0012823	Clinical modifier	3653	IPW	OMIM:176270
HP:0012823	Clinical modifier	791114	PWRN1	OMIM:176270
HP:0012823	Clinical modifier	100033413	SNORD116-1	OMIM:176270
HP:0012823	Clinical modifier	145624	PWAR1	OMIM:176270
HP:0012823	Clinical modifier	23742	NPAP1	OMIM:176270
HP:0012823	Clinical modifier	338433	SNORD115-1	OMIM:176270
HP:0012823	Clinical modifier	56945	MRPS22	OMIM:611719
HP:0012823	Clinical modifier	10733	PLK4	OMIM:616171
HP:0012823	Clinical modifier	7707	ZNF148	OMIM:617260
HP:0012823	Clinical modifier	6299	SALL1	OMIM:107480
HP:0012823	Clinical modifier	3728	JUP	OMIM:601214
HP:0012823	Clinical modifier	6567	SLC16A2	OMIM:300523
HP:0012823	Clinical modifier	23395	LARS2	OMIM:617021
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:225753
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:610204
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:277470
HP:0012823	Clinical modifier	55262	TRAPPC14	OMIM:618351
HP:0012823	Clinical modifier	114803	MYSM1	OMIM:618116
HP:0012823	Clinical modifier	79147	FKRP	OMIM:236670
HP:0012823	Clinical modifier	79147	FKRP	OMIM:606612
HP:0012823	Clinical modifier	79147	FKRP	OMIM:613153
HP:0012823	Clinical modifier	56975	FAM20C	OMIM:259775
HP:0012823	Clinical modifier	2735	GLI1	OMIM:618123
HP:0012823	Clinical modifier	8888	MCM3AP	OMIM:618124
HP:0012823	Clinical modifier	63925	ZNF335	OMIM:615095
HP:0012823	Clinical modifier	57007	ACKR3	OMIM:619215
HP:0012823	Clinical modifier	4998	ORC1	OMIM:224690
HP:0012823	Clinical modifier	1621	DBH	OMIM:223360
HP:0012823	Clinical modifier	7021	TFAP2B	OMIM:617035
HP:0012823	Clinical modifier	81788	NUAK2	OMIM:619452
HP:0012823	Clinical modifier	27341	RRP7A	OMIM:619453
HP:0012823	Clinical modifier	2019	EN1	OMIM:619218
HP:0012823	Clinical modifier	1009	CDH11	OMIM:211380
HP:0012823	Clinical modifier	1009	CDH11	OMIM:619736
HP:0012823	Clinical modifier	4627	MYH9	OMIM:155100
HP:0012823	Clinical modifier	7401	CLRN1	OMIM:276902
HP:0012823	Clinical modifier	7809	BSND	OMIM:602522
HP:0012823	Clinical modifier	7086	TKT	OMIM:617044
HP:0012823	Clinical modifier	2009	EML1	OMIM:600348
HP:0012823	Clinical modifier	11342	RNF13	OMIM:618379
HP:0012823	Clinical modifier	127833	SYT2	OMIM:619461
HP:0012823	Clinical modifier	4613	MYCN	OMIM:164280
HP:0012823	Clinical modifier	50801	KCNK4	OMIM:618381
HP:0012823	Clinical modifier	26160	IFT172	OMIM:619471
HP:0012823	Clinical modifier	4158	MC2R	OMIM:202200
HP:0012823	Clinical modifier	54800	KLHL24	OMIM:617294
HP:0012823	Clinical modifier	3914	LAMB3	OMIM:226650
HP:0012823	Clinical modifier	3914	LAMB3	OMIM:226700
HP:0012823	Clinical modifier	10526	IPO8	OMIM:619472
HP:0012823	Clinical modifier	348180	CTU2	OMIM:618142
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:300952
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:301021
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:309801
HP:0012823	Clinical modifier	7737	RNF113A	OMIM:300953
HP:0012823	Clinical modifier	92002	CCNQ	OMIM:300707
HP:0012823	Clinical modifier	79574	EPS8L3	OMIM:612841
HP:0012823	Clinical modifier	6608	SMO	OMIM:241800
HP:0012823	Clinical modifier	6608	SMO	OMIM:601707
HP:0012823	Clinical modifier	10413	YAP1	OMIM:120433
HP:0012823	Clinical modifier	2006	ELN	OMIM:123700
HP:0012823	Clinical modifier	3248	HPGD	OMIM:259100
HP:0012823	Clinical modifier	3248	HPGD	OMIM:119900
HP:0012823	Clinical modifier	63895	PIEZO2	OMIM:108145
HP:0012823	Clinical modifier	63895	PIEZO2	OMIM:248700
HP:0012823	Clinical modifier	1412	CRYBA2	OMIM:115900
HP:0012823	Clinical modifier	4927	NUP88	OMIM:618393
HP:0012823	Clinical modifier	51360	MBTPS2	OMIM:308205
HP:0012823	Clinical modifier	3636	INPPL1	OMIM:258480
HP:0012823	Clinical modifier	9325	TRIP4	OMIM:617066
HP:0012823	Clinical modifier	9325	TRIP4	OMIM:616866
HP:0012823	Clinical modifier	6872	TAF1	OMIM:300966
HP:0012823	Clinical modifier	60558	GUF1	OMIM:617065
HP:0012823	Clinical modifier	158326	FREM1	OMIM:248450
HP:0012823	Clinical modifier	8318	CDC45	OMIM:617063
HP:0012823	Clinical modifier	55640	FLVCR2	OMIM:225790
HP:0012823	Clinical modifier	23233	EXOC6B	OMIM:618395
HP:0012823	Clinical modifier	9508	ADAMTS3	OMIM:618154
HP:0012823	Clinical modifier	91875	TTC5	OMIM:619244
HP:0012823	Clinical modifier	84340	GFM2	OMIM:618397
HP:0012823	Clinical modifier	4617	MYF5	OMIM:618155
HP:0012823	Clinical modifier	134353	LSM11	OMIM:619486
HP:0012823	Clinical modifier	100127206	MINAR2	OMIM:620238
HP:0012823	Clinical modifier	57038	RARS2	OMIM:611523
HP:0012823	Clinical modifier	50485	SMARCAL1	OMIM:242900
HP:0012823	Clinical modifier	7341	SUMO1	OMIM:613705
HP:0012823	Clinical modifier	9573	GDF3	OMIM:613704
HP:0012823	Clinical modifier	60386	SLC25A19	OMIM:607196
HP:0012823	Clinical modifier	2299	FOXI1	OMIM:600791
HP:0012823	Clinical modifier	5172	SLC26A4	OMIM:600791
HP:0012823	Clinical modifier	23387	SIK3	OMIM:618162
HP:0012823	Clinical modifier	6748	SSR4	OMIM:300934
HP:0012823	Clinical modifier	51168	MYO15A	OMIM:600316
HP:0012823	Clinical modifier	5339	PLEC	OMIM:226670
HP:0012823	Clinical modifier	5339	PLEC	OMIM:226730
HP:0012823	Clinical modifier	1908	EDN3	OMIM:613712
HP:0012823	Clinical modifier	4094	MAF	OMIM:610202
HP:0012823	Clinical modifier	2668	GDNF	OMIM:613711
HP:0012823	Clinical modifier	1073	CFL2	OMIM:610687
HP:0012823	Clinical modifier	3110	MNX1	OMIM:176450
HP:0012823	Clinical modifier	253827	MSRB3	OMIM:613718
HP:0012823	Clinical modifier	6599	SMARCC1	OMIM:620241
HP:0012823	Clinical modifier	51082	POLR1D	OMIM:613717
HP:0012823	Clinical modifier	7474	WNT5A	OMIM:180700
HP:0012823	Clinical modifier	54658	UGT1A1	OMIM:218800
HP:0012823	Clinical modifier	116150	NUS1	OMIM:617082
HP:0012823	Clinical modifier	79023	NUP37	OMIM:618179
HP:0012823	Clinical modifier	8516	ITGA8	OMIM:191830
HP:0012823	Clinical modifier	90121	TSR2	OMIM:300946
HP:0012823	Clinical modifier	4233	MET	OMIM:620019
HP:0012823	Clinical modifier	4233	MET	OMIM:607278
HP:0012823	Clinical modifier	1414	CRYBB1	OMIM:611544
HP:0012823	Clinical modifier	26123	TCTN3	OMIM:614815
HP:0012823	Clinical modifier	29969	MDFIC	OMIM:620014
HP:0012823	Clinical modifier	3516	RBPJ	OMIM:614814
HP:0012823	Clinical modifier	60529	ALX4	OMIM:609597
HP:0012823	Clinical modifier	60529	ALX4	OMIM:613451
HP:0012823	Clinical modifier	8085	KMT2D	OMIM:147920
HP:0012823	Clinical modifier	7403	KDM6A	OMIM:147920
HP:0012823	Clinical modifier	8323	FZD6	OMIM:161050
HP:0012823	Clinical modifier	5393	EXOSC9	OMIM:618065
HP:0012823	Clinical modifier	26128	KIFBP	OMIM:609460
HP:0012823	Clinical modifier	673	BRAF	OMIM:115150
HP:0012823	Clinical modifier	57539	WDR35	OMIM:613610
HP:0012823	Clinical modifier	283310	OTOGL	OMIM:614944
HP:0012823	Clinical modifier	3848	KRT1	OMIM:620148
HP:0012823	Clinical modifier	3848	KRT1	OMIM:146590
HP:0012823	Clinical modifier	3848	KRT1	OMIM:600962
HP:0012823	Clinical modifier	340990	OTOG	OMIM:614945
HP:0012823	Clinical modifier	1411	CRYBA1	OMIM:600881
HP:0012823	Clinical modifier	57222	ERGIC1	OMIM:208100
HP:0012823	Clinical modifier	89910	UBE3B	OMIM:244450
HP:0012823	Clinical modifier	1638	DCT	OMIM:619165
HP:0012823	Clinical modifier	3664	IRF6	OMIM:119500
HP:0012823	Clinical modifier	3664	IRF6	OMIM:119300
HP:0012823	Clinical modifier	6662	SOX9	OMIM:114290
HP:0012823	Clinical modifier	26153	KIF26A	OMIM:620156
HP:0012823	Clinical modifier	9382	COG1	OMIM:611209
HP:0012823	Clinical modifier	1763	DNA2	OMIM:615807
HP:0012823	Clinical modifier	7125	TNNC2	OMIM:620161
HP:0012823	Clinical modifier	388698	FLG2	OMIM:618084
HP:0012823	Clinical modifier	9241	NOG	OMIM:186570
HP:0012823	Clinical modifier	84876	ORAI1	OMIM:612782
HP:0012823	Clinical modifier	220074	LRTOMT	OMIM:611451
HP:0012823	Clinical modifier	50814	NSDHL	OMIM:308050
HP:0012823	Clinical modifier	1889	ECE1	OMIM:613870
HP:0012823	Clinical modifier	1801	DPH1	OMIM:616901
HP:0012823	Clinical modifier	93627	TBCK	OMIM:616900
HP:0012823	Clinical modifier	114034	TOE1	OMIM:614969
HP:0012823	Clinical modifier	1509	CTSD	OMIM:610127
HP:0012823	Clinical modifier	80254	CEP63	OMIM:614728
HP:0012823	Clinical modifier	80326	WNT10A	OMIM:257980
HP:0012823	Clinical modifier	51057	WDPCP	OMIM:217085
HP:0012823	Clinical modifier	10555	AGPAT2	OMIM:608594
HP:0012823	Clinical modifier	5313	PKLR	OMIM:266200
HP:0012823	Clinical modifier	1690	COCH	OMIM:618094
HP:0012823	Clinical modifier	84823	LMNB2	OMIM:619180
HP:0012823	Clinical modifier	6885	MAP3K7	OMIM:157800
HP:0012823	Clinical modifier	55148	UBR7	OMIM:619189
HP:0012823	Clinical modifier	7170	TPM3	OMIM:255310
HP:0012823	Clinical modifier	79583	TMEM231	OMIM:614970
HP:0012823	Clinical modifier	79583	TMEM231	OMIM:615397
HP:0012823	Clinical modifier	23545	ATP6V0A2	OMIM:278250
HP:0012823	Clinical modifier	1954	MEGF8	OMIM:614976
HP:0012823	Clinical modifier	55636	CHD7	OMIM:214800
HP:0012823	Clinical modifier	3070	HELLS	OMIM:616911
HP:0012823	Clinical modifier	83879	CDCA7	OMIM:616910
HP:0012823	Clinical modifier	27245	AHDC1	OMIM:615829
HP:0012823	Clinical modifier	6234	RPS28	OMIM:606164
HP:0012823	Clinical modifier	699	BUB1	OMIM:620183
HP:0012823	Clinical modifier	9653	HS2ST1	OMIM:619194
HP:0012823	Clinical modifier	57217	TTC7A	OMIM:243150
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:151210
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:156550
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:271700
HP:0012823	Clinical modifier	23118	TAB2	OMIM:614980
HP:0012823	Clinical modifier	51660	MPC1	OMIM:614741
HP:0012823	Clinical modifier	3211	HOXB1	OMIM:614744
HP:0012823	Clinical modifier	25977	NECAP1	OMIM:615833
HP:0012823	Clinical modifier	84720	PIGO	OMIM:614749
HP:0012823	Clinical modifier	54499	TMCO1	OMIM:213980
HP:0012823	Clinical modifier	10907	TXNL4A	OMIM:608572
HP:0012823	Clinical modifier	2255	FGF10	OMIM:620193
HP:0012823	Clinical modifier	4036	LRP2	OMIM:222448
HP:0012823	Clinical modifier	8050	PDHX	OMIM:245349
HP:0012823	Clinical modifier	64327	LMBR1	OMIM:188740
HP:0012823	Clinical modifier	153562	MARVELD2	OMIM:610153
HP:0012823	Clinical modifier	2103	ESRRB	OMIM:608565
HP:0012823	Clinical modifier	2535	FZD2	OMIM:164745
HP:0012823	Clinical modifier	2652	OPN1MW	OMIM:303800
HP:0012823	Clinical modifier	6949	TCOF1	OMIM:154500
HP:0012823	Clinical modifier	10661	KLF1	OMIM:613673
HP:0012823	Clinical modifier	55835	CENPJ	OMIM:613676
HP:0012823	Clinical modifier	55835	CENPJ	OMIM:608393
HP:0012823	Clinical modifier	2147	F2	OMIM:613679
HP:0012823	Clinical modifier	1302	COL11A2	OMIM:614524
HP:0012823	Clinical modifier	1302	COL11A2	OMIM:215150
HP:0012823	Clinical modifier	3753	KCNE1	OMIM:612347
HP:0012823	Clinical modifier	10682	EBP	OMIM:302960
HP:0012823	Clinical modifier	171023	ASXL1	OMIM:605039
HP:0012823	Clinical modifier	84667	HES7	OMIM:613686
HP:0012823	Clinical modifier	220136	CFAP53	OMIM:614779
HP:0012823	Clinical modifier	80000	GREB1L	OMIM:617805
HP:0012823	Clinical modifier	80000	GREB1L	OMIM:619274
HP:0012823	Clinical modifier	5830	PEX5	OMIM:616716
HP:0012823	Clinical modifier	23592	LEMD3	OMIM:166700
HP:0012823	Clinical modifier	7490	WT1	OMIM:106210
HP:0012823	Clinical modifier	7490	WT1	OMIM:608978
HP:0012823	Clinical modifier	5080	PAX6	OMIM:106210
HP:0012823	Clinical modifier	8518	ELP1	OMIM:223900
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:187600
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:616482
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:100800
HP:0012823	Clinical modifier	91949	COG7	OMIM:608779
HP:0012823	Clinical modifier	8243	SMC1A	OMIM:301044
HP:0012823	Clinical modifier	64116	SLC39A8	OMIM:616721
HP:0012823	Clinical modifier	1305	COL13A1	OMIM:616720
HP:0012823	Clinical modifier	79848	CSPP1	OMIM:615636
HP:0012823	Clinical modifier	1788	DNMT3A	OMIM:615879
HP:0012823	Clinical modifier	10586	MAB21L2	OMIM:615877
HP:0012823	Clinical modifier	55593	OTUD5	OMIM:301056
HP:0012823	Clinical modifier	1837	DTNA	OMIM:604169
HP:0012823	Clinical modifier	84162	BLTP1	OMIM:617822
HP:0012823	Clinical modifier	10229	COQ7	OMIM:616733
HP:0012823	Clinical modifier	1278	COL1A2	OMIM:617821
HP:0012823	Clinical modifier	1278	COL1A2	OMIM:619120
HP:0012823	Clinical modifier	83479	DDX59	OMIM:174300
HP:0012823	Clinical modifier	2162	F13A1	OMIM:613225
HP:0012823	Clinical modifier	10982	MAPRE2	OMIM:616734
HP:0012823	Clinical modifier	767	CA8	OMIM:613227
HP:0012823	Clinical modifier	5048	PAFAH1B1	OMIM:607432
HP:0012823	Clinical modifier	54820	NDE1	OMIM:605013
HP:0012823	Clinical modifier	54820	NDE1	OMIM:614019
HP:0012823	Clinical modifier	7547	ZIC3	OMIM:306955
HP:0012823	Clinical modifier	10735	STAG2	OMIM:301022
HP:0012823	Clinical modifier	55906	ZC4H2	OMIM:314580
HP:0012823	Clinical modifier	112802	KRT71	OMIM:615896
HP:0012823	Clinical modifier	388753	COA6	OMIM:616501
HP:0012823	Clinical modifier	493753	COA5	OMIM:616500
HP:0012823	Clinical modifier	2165	F13B	OMIM:613235
HP:0012823	Clinical modifier	80746	TSEN2	OMIM:612389
HP:0012823	Clinical modifier	284086	NEK8	OMIM:615415
HP:0012823	Clinical modifier	4047	LSS	OMIM:616509
HP:0012823	Clinical modifier	4047	LSS	OMIM:618275
HP:0012823	Clinical modifier	4047	LSS	OMIM:618840
HP:0012823	Clinical modifier	259232	NALCN	OMIM:615419
HP:0012823	Clinical modifier	259232	NALCN	OMIM:616266
HP:0012823	Clinical modifier	55764	IFT122	OMIM:218330
HP:0012823	Clinical modifier	5422	POLA1	OMIM:301030
HP:0012823	Clinical modifier	7286	TUFT1	OMIM:607655
HP:0012823	Clinical modifier	3479	IGF1	OMIM:608747
HP:0012823	Clinical modifier	25	ABL1	OMIM:617602
HP:0012823	Clinical modifier	5147	PDE6D	OMIM:615665
HP:0012823	Clinical modifier	57511	COG6	OMIM:614576
HP:0012823	Clinical modifier	57511	COG6	OMIM:615328
HP:0012823	Clinical modifier	128637	TBC1D20	OMIM:615663
HP:0012823	Clinical modifier	29980	DONSON	OMIM:617604
HP:0012823	Clinical modifier	29980	DONSON	OMIM:251230
HP:0012823	Clinical modifier	8195	MKKS	OMIM:605231
HP:0012823	Clinical modifier	64840	PORCN	OMIM:305600
HP:0012823	Clinical modifier	200879	LIPH	OMIM:604379
HP:0012823	Clinical modifier	2703	GJA8	OMIM:116200
HP:0012823	Clinical modifier	26580	BSCL2	OMIM:269700
HP:0012823	Clinical modifier	1103	CHAT	OMIM:254210
HP:0012823	Clinical modifier	5333	PLCD1	OMIM:151600
HP:0012823	Clinical modifier	117581	TWIST2	OMIM:209885
HP:0012823	Clinical modifier	117581	TWIST2	OMIM:200110
HP:0012823	Clinical modifier	80781	COL18A1	OMIM:267750
HP:0012823	Clinical modifier	286410	ATP11C	OMIM:301015
HP:0012823	Clinical modifier	3955	LFNG	OMIM:609813
HP:0012823	Clinical modifier	59344	ALOXE3	OMIM:606545
HP:0012823	Clinical modifier	59344	ALOXE3	OMIM:242100
HP:0012823	Clinical modifier	4893	NRAS	OMIM:137550
HP:0012823	Clinical modifier	3265	HRAS	OMIM:137550
HP:0012823	Clinical modifier	1836	SLC26A2	OMIM:222600
HP:0012823	Clinical modifier	1836	SLC26A2	OMIM:600972
HP:0012823	Clinical modifier	55617	TASP1	OMIM:618950
HP:0012823	Clinical modifier	114928	GPRASP2	OMIM:301018
HP:0012823	Clinical modifier	3098	HK1	OMIM:235700
HP:0012823	Clinical modifier	80210	ARMC9	OMIM:617622
HP:0012823	Clinical modifier	2625	GATA3	OMIM:146255
HP:0012823	Clinical modifier	925	CD8A	OMIM:608957
HP:0012823	Clinical modifier	259266	ASPM	OMIM:608716
HP:0012823	Clinical modifier	153241	CEP120	OMIM:616300
HP:0012823	Clinical modifier	23247	KATNIP	OMIM:616784
HP:0012823	Clinical modifier	2737	GLI3	OMIM:174700
HP:0012823	Clinical modifier	2737	GLI3	OMIM:174200
HP:0012823	Clinical modifier	9786	KIAA0586	OMIM:616546
HP:0012823	Clinical modifier	4038	LRP4	OMIM:616304
HP:0012823	Clinical modifier	4038	LRP4	OMIM:212780
HP:0012823	Clinical modifier	387	RHOA	OMIM:618727
HP:0012823	Clinical modifier	3691	ITGB4	OMIM:619816
HP:0012823	Clinical modifier	3691	ITGB4	OMIM:226730
HP:0012823	Clinical modifier	3655	ITGA6	OMIM:619817
HP:0012823	Clinical modifier	8777	MPDZ	OMIM:615219
HP:0012823	Clinical modifier	10383	TUBB4B	OMIM:617879
HP:0012823	Clinical modifier	9939	RBM8A	OMIM:274000
HP:0012823	Clinical modifier	6496	SIX3	OMIM:157170
HP:0012823	Clinical modifier	3908	LAMA2	OMIM:607855
HP:0012823	Clinical modifier	23288	IQCE	OMIM:617642
HP:0012823	Clinical modifier	1804	DPP6	OMIM:616311
HP:0012823	Clinical modifier	57728	WDR19	OMIM:614378
HP:0012823	Clinical modifier	57728	WDR19	OMIM:614376
HP:0012823	Clinical modifier	7700	ZNF141	OMIM:615226
HP:0012823	Clinical modifier	1140	CHRNB1	OMIM:616314
HP:0012823	Clinical modifier	1140	CHRNB1	OMIM:616313
HP:0012823	Clinical modifier	529	ATP6V1E1	OMIM:617402
HP:0012823	Clinical modifier	6155	RPL27	OMIM:617408
HP:0012823	Clinical modifier	255758	DYNLT2B	OMIM:617405
HP:0012823	Clinical modifier	9381	OTOF	OMIM:601071
HP:0012823	Clinical modifier	64699	TMPRSS3	OMIM:601072
HP:0012823	Clinical modifier	352909	DNAAF3	OMIM:606763
HP:0012823	Clinical modifier	246329	STAC3	OMIM:255995
HP:0012823	Clinical modifier	23141	ANKLE2	OMIM:616681
HP:0012823	Clinical modifier	10617	STAMBP	OMIM:614261
HP:0012823	Clinical modifier	91754	NEK9	OMIM:614262
HP:0012823	Clinical modifier	8425	LTBP4	OMIM:613177
HP:0012823	Clinical modifier	220	ALDH1A3	OMIM:615113
HP:0012823	Clinical modifier	10054	UBA2	OMIM:619959
HP:0012823	Clinical modifier	6938	TCF12	OMIM:619718
HP:0012823	Clinical modifier	3008	H1-4	OMIM:617537
HP:0012823	Clinical modifier	64220	STRA6	OMIM:601186
HP:0012823	Clinical modifier	6720	SREBF1	OMIM:158310
HP:0012823	Clinical modifier	7849	PAX8	OMIM:218700
HP:0012823	Clinical modifier	10300	KATNB1	OMIM:616212
HP:0012823	Clinical modifier	6536	SLC6A9	OMIM:617301
HP:0012823	Clinical modifier	55159	RFWD3	OMIM:617784
HP:0012823	Clinical modifier	2201	FBN2	OMIM:121050
HP:0012823	Clinical modifier	84570	COL25A1	OMIM:616219
HP:0012823	Clinical modifier	10381	TUBB3	OMIM:614039
HP:0012823	Clinical modifier	28960	DCPS	OMIM:616459
HP:0012823	Clinical modifier	220202	ATOH7	OMIM:221900
HP:0012823	Clinical modifier	2626	GATA4	OMIM:607941
HP:0012823	Clinical modifier	2626	GATA4	OMIM:614429
HP:0012823	Clinical modifier	2626	GATA4	OMIM:614430
HP:0012823	Clinical modifier	2626	GATA4	OMIM:615542
HP:0012823	Clinical modifier	54	ACP5	OMIM:607944
HP:0012823	Clinical modifier	25885	POLR1A	OMIM:616462
HP:0012823	Clinical modifier	9469	CHST3	OMIM:143095
HP:0012823	Clinical modifier	7528	YY1	OMIM:617557
HP:0012823	Clinical modifier	56172	ANKH	OMIM:123000
HP:0012823	Clinical modifier	9581	PREPL	OMIM:616224
HP:0012823	Clinical modifier	90993	CREB3L1	OMIM:616229
HP:0012823	Clinical modifier	170825	GSX2	OMIM:618646
HP:0012823	Clinical modifier	21	ABCA3	OMIM:610921
HP:0012823	Clinical modifier	8726	EED	OMIM:617561
HP:0012823	Clinical modifier	54968	TMEM70	OMIM:614052
HP:0012823	Clinical modifier	497661	C18orf32	OMIM:619985
HP:0012823	Clinical modifier	1301	COL11A1	OMIM:228520
HP:0012823	Clinical modifier	55714	TENM3	OMIM:615145
HP:0012823	Clinical modifier	84314	TMEM107	OMIM:617563
HP:0012823	Clinical modifier	269	AMHR2	OMIM:261550
HP:0012823	Clinical modifier	268	AMH	OMIM:261550
HP:0012823	Clinical modifier	56992	KIF15	OMIM:619981
HP:0012823	Clinical modifier	55012	PPP2R3C	OMIM:618419
HP:0012823	Clinical modifier	55521	TRIM36	OMIM:206500
HP:0012823	Clinical modifier	4632	MYL1	OMIM:618414
HP:0012823	Clinical modifier	23268	DNMBP	OMIM:618415
HP:0012823	Clinical modifier	8642	DCHS1	OMIM:601390
HP:0012823	Clinical modifier	8241	RBM10	OMIM:311900
HP:0012823	Clinical modifier	6820	SULT2B1	OMIM:617571
HP:0012823	Clinical modifier	23312	DMXL2	OMIM:618663
HP:0012823	Clinical modifier	83861	RSPH3	OMIM:616481
HP:0012823	Clinical modifier	10717	AP4B1	OMIM:614066
HP:0012823	Clinical modifier	1349	COX7B	OMIM:309801
HP:0012823	Clinical modifier	3052	HCCS	OMIM:309801
HP:0012823	Clinical modifier	84879	MFSD2A	OMIM:616486
HP:0012823	Clinical modifier	7862	BRPF1	OMIM:617333
HP:0012823	Clinical modifier	121214	SDR9C7	OMIM:617574
HP:0012823	Clinical modifier	8363	H4C11	OMIM:619759
HP:0012823	Clinical modifier	1001	CDH3	OMIM:225280
HP:0012823	Clinical modifier	9453	GGPS1	OMIM:619518
HP:0012823	Clinical modifier	3481	IGF2	OMIM:616489
HP:0012823	Clinical modifier	9841	ZBTB24	OMIM:614069
HP:0012823	Clinical modifier	8364	H4C3	OMIM:619758
HP:0012823	Clinical modifier	145258	GSC	OMIM:602471
HP:0012823	Clinical modifier	2248	FGF3	OMIM:610706
HP:0012823	Clinical modifier	26137	ZBTB20	OMIM:259050
HP:0012823	Clinical modifier	388552	BLOC1S3	OMIM:614077
HP:0012823	Clinical modifier	54928	BPNT2	OMIM:614078
HP:0012823	Clinical modifier	51098	IFT52	OMIM:617102
HP:0012823	Clinical modifier	53335	BCL11A	OMIM:617101
HP:0012823	Clinical modifier	9158	FIBP	OMIM:617107
HP:0012823	Clinical modifier	7140	TNNT3	OMIM:618435
HP:0012823	Clinical modifier	51341	ZBTB7A	OMIM:619769
HP:0012823	Clinical modifier	147409	DSG4	OMIM:607903
HP:0012823	Clinical modifier	23556	PIGN	OMIM:614080
HP:0012823	Clinical modifier	4621	MYH3	OMIM:178110
HP:0012823	Clinical modifier	339855	KY	OMIM:617114
HP:0012823	Clinical modifier	57479	PRR12	OMIM:619539
HP:0012823	Clinical modifier	5818	NECTIN1	OMIM:225060
HP:0012823	Clinical modifier	4851	NOTCH1	OMIM:616028
HP:0012823	Clinical modifier	7994	KAT6A	OMIM:616268
HP:0012823	Clinical modifier	23189	KANK1	OMIM:612900
HP:0012823	Clinical modifier	10195	ALG3	OMIM:601110
HP:0012823	Clinical modifier	1749	DLX5	OMIM:220600
HP:0012823	Clinical modifier	3845	KRAS	OMIM:600268
HP:0012823	Clinical modifier	3845	KRAS	OMIM:609942
HP:0012823	Clinical modifier	54903	MKS1	OMIM:617121
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:619784
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:619783
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:226700
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:619785
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:619786
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:226700
HP:0012823	Clinical modifier	51362	CDC40	OMIM:619302
HP:0012823	Clinical modifier	8621	CDK13	OMIM:617360
HP:0012823	Clinical modifier	1308	COL17A1	OMIM:619787
HP:0012823	Clinical modifier	1419	CRYGB	OMIM:615188
HP:0012823	Clinical modifier	1892	ECHS1	OMIM:616277
HP:0012823	Clinical modifier	51117	COQ4	OMIM:616276
HP:0012823	Clinical modifier	3763	KCNJ6	OMIM:614098
HP:0012823	Clinical modifier	5587	PRKD1	OMIM:617364
HP:0012823	Clinical modifier	93587	TRMT10A	OMIM:616033
HP:0012823	Clinical modifier	120766137	HRURF	OMIM:146550
HP:0012823	Clinical modifier	29968	PSAT1	OMIM:616038
HP:0012823	Clinical modifier	9851	KIAA0753	OMIM:617127
HP:0012823	Clinical modifier	115948	ODAD3	OMIM:616037
HP:0012823	Clinical modifier	5290	PIK3CA	OMIM:612918
HP:0012823	Clinical modifier	5290	PIK3CA	OMIM:155500
HP:0012823	Clinical modifier	8504	PEX3	OMIM:617370
HP:0012823	Clinical modifier	5898	RALA	OMIM:619311
HP:0012823	Clinical modifier	367	AR	OMIM:300633
HP:0012823	Clinical modifier	6909	TBX2	OMIM:618223
HP:0012823	Clinical modifier	51422	PRKAG2	OMIM:261740
HP:0012823	Clinical modifier	6477	SIAH1	OMIM:619314
HP:0012823	Clinical modifier	54892	NCAPG2	OMIM:618460
HP:0012823	Clinical modifier	112	ADCY6	OMIM:616287
HP:0012823	Clinical modifier	85476	GFM1	OMIM:609060
HP:0012823	Clinical modifier	6650	CAPN15	OMIM:619318
HP:0012823	Clinical modifier	23384	SPECC1L	OMIM:600251
HP:0012823	Clinical modifier	23384	SPECC1L	OMIM:145420
HP:0012823	Clinical modifier	170302	ARX	OMIM:308350
HP:0012823	Clinical modifier	54765	TRIM44	OMIM:617142
HP:0012823	Clinical modifier	26610	ELP4	OMIM:617141
HP:0012823	Clinical modifier	29078	NDUFAF4	OMIM:618237
HP:0012823	Clinical modifier	4081	MAB21L1	OMIM:618479
HP:0012823	Clinical modifier	7846	TUBA1A	OMIM:611603
HP:0012823	Clinical modifier	9179	AP4M1	OMIM:612936
HP:0012823	Clinical modifier	79068	FTO	OMIM:612938
HP:0012823	Clinical modifier	10940	POP1	OMIM:617396
HP:0012823	Clinical modifier	2530	FUT8	OMIM:618005
HP:0012823	Clinical modifier	1956	EGFR	OMIM:616069
HP:0012823	Clinical modifier	55572	FOXRED1	OMIM:618241
HP:0012823	Clinical modifier	54496	PRMT7	OMIM:617157
HP:0012823	Clinical modifier	23414	ZFPM2	OMIM:616067
HP:0012823	Clinical modifier	8260	NAA10	OMIM:300855
HP:0012823	Clinical modifier	7169	TPM2	OMIM:609285
HP:0012823	Clinical modifier	1147	CHUK	OMIM:619339
HP:0012823	Clinical modifier	92344	GORAB	OMIM:231070
HP:0012823	Clinical modifier	3913	LAMB2	OMIM:609049
HP:0012823	Clinical modifier	6491	STIL	OMIM:612703
HP:0012823	Clinical modifier	6768	ST14	OMIM:602400
HP:0012823	Clinical modifier	10524	KAT5	OMIM:619103
HP:0012823	Clinical modifier	372	ARCN1	OMIM:617164
HP:0012823	Clinical modifier	285600	KIAA0825	OMIM:618498
HP:0012823	Clinical modifier	3977	LIFR	OMIM:601559
HP:0012823	Clinical modifier	80173	IFT74	OMIM:619582
HP:0012823	Clinical modifier	84896	ATAD1	OMIM:618011
HP:0012823	Clinical modifier	115399	LRRC56	OMIM:618254
HP:0012823	Clinical modifier	5000	ORC4	OMIM:613800
HP:0012823	Clinical modifier	84668	HYCC1	OMIM:610532
HP:0012823	Clinical modifier	3930	LBR	OMIM:618019
HP:0012823	Clinical modifier	2683	B4GALT1	OMIM:607091
HP:0012823	Clinical modifier	4990	SIX6	OMIM:206900
HP:0012823	Clinical modifier	4990	SIX6	OMIM:212550
HP:0012823	Clinical modifier	6657	SOX2	OMIM:206900
HP:0012823	Clinical modifier	81620	CDT1	OMIM:613804
HP:0012823	Clinical modifier	23594	ORC6	OMIM:613803
HP:0012823	Clinical modifier	990	CDC6	OMIM:613805
HP:0012823	Clinical modifier	1021	CDK6	OMIM:616080
HP:0012823	Clinical modifier	5281	PIGF	OMIM:619356
HP:0012823	Clinical modifier	29895	MYL11	OMIM:619110
HP:0012823	Clinical modifier	340419	RSPO2	OMIM:618021
HP:0012823	Clinical modifier	5702	PSMC3	OMIM:619354
HP:0012823	Clinical modifier	79005	SCNM1	OMIM:620107
HP:0012823	Clinical modifier	50846	DHH	OMIM:607080
HP:0012823	Clinical modifier	8204	NRIP1	OMIM:618270
HP:0012823	Clinical modifier	23405	DICER1	OMIM:618272
HP:0012823	Clinical modifier	113189	CHST14	OMIM:601776
HP:0012823	Clinical modifier	291	SLC25A4	OMIM:617184
HP:0012823	Clinical modifier	55755	CDK5RAP2	OMIM:604804
HP:0012823	Clinical modifier	6472	SHMT2	OMIM:619121
HP:0012823	Clinical modifier	10220	GDF11	OMIM:619122
HP:0012823	Clinical modifier	90416	CCDC32	OMIM:619123
HP:0012823	Clinical modifier	10161	LPAR6	OMIM:278150
HP:0012823	Clinical modifier	64093	SMOC1	OMIM:206920
HP:0012823	Clinical modifier	22995	CEP152	OMIM:613823
HP:0012823	Clinical modifier	4604	MYBPC1	OMIM:614915
HP:0012823	Clinical modifier	55252	ASXL2	OMIM:617190
HP:0012823	Clinical modifier	4140	MARK3	OMIM:618283
HP:0012823	Clinical modifier	342035	GLDN	OMIM:617194
HP:0012823	Clinical modifier	57020	VPS35L	OMIM:619135
HP:0012823	Clinical modifier	7390	UROS	OMIM:263700
HP:0012823	Clinical modifier	51371	POMP	OMIM:618048
HP:0012823	Clinical modifier	3739	KCNA4	OMIM:618284
HP:0012823	Clinical modifier	1984	EIF5A	OMIM:619376
HP:0012823	Clinical modifier	2733	GLE1	OMIM:611890
HP:0012823	Clinical modifier	210	ALAD	OMIM:612740
HP:0012823	Clinical modifier	55005	RMND1	OMIM:614922
HP:0012823	Clinical modifier	59	ACTA2	OMIM:613834
HP:0012823	Clinical modifier	5076	PAX2	OMIM:120330
HP:0012823	Clinical modifier	224	ALDH3A2	OMIM:270200
HP:0012823	Clinical modifier	5566	PRKACA	OMIM:619142
HP:0012823	Clinical modifier	5567	PRKACB	OMIM:619143
HP:0012823	Clinical modifier	146059	CDAN1	OMIM:224120
HP:0012823	Clinical modifier	8823	FGF16	OMIM:309630
HP:0012823	Clinical modifier	3480	IGF1R	OMIM:270450
HP:0012823	Clinical modifier	3476	IGBP1	OMIM:300472
HP:0012823	Clinical modifier	11113	CIT	OMIM:617090
HP:0012823	Clinical modifier	10262	SF3B4	OMIM:154400
HP:0012823	Clinical modifier	8506	CNTNAP1	OMIM:618186
HP:0012823	Clinical modifier	55503	TRPV6	OMIM:618188
HP:0012823	Clinical modifier	83700	JAM3	OMIM:613730
HP:0012823	Clinical modifier	4091	SMAD6	OMIM:614823
HP:0012823	Clinical modifier	55624	POMGNT1	OMIM:253280
HP:0012823	Clinical modifier	55624	POMGNT1	OMIM:613151
HP:0012823	Clinical modifier	10992	SF3B2	OMIM:164210
HP:0012823	Clinical modifier	3048	HBG2	OMIM:613977
HP:0012823	Clinical modifier	8496	PPFIBP1	OMIM:620024
HP:0012823	Clinical modifier	4867	NPHP1	OMIM:609583
HP:0012823	Clinical modifier	3239	HOXD13	OMIM:186000
HP:0012823	Clinical modifier	4281	MID1	OMIM:300000
HP:0012823	Clinical modifier	8443	GNPAT	OMIM:222765
HP:0012823	Clinical modifier	162	AP1B1	OMIM:242150
HP:0012823	Clinical modifier	4649	MYO9A	OMIM:618198
HP:0012823	Clinical modifier	4882	NPR2	OMIM:615923
HP:0012823	Clinical modifier	23431	AP4E1	OMIM:613744
HP:0012823	Clinical modifier	4868	NPHS1	OMIM:256300
HP:0012823	Clinical modifier	274	BIN1	OMIM:255200
HP:0012823	Clinical modifier	93	ACVR2B	OMIM:613751
HP:0012823	Clinical modifier	10015	PDCD6IP	OMIM:620047
HP:0012823	Clinical modifier	894	CCND2	OMIM:615938
HP:0012823	Clinical modifier	7841	MOGS	OMIM:606056
HP:0012823	Clinical modifier	55107	ANO1	OMIM:620045
HP:0012823	Clinical modifier	8546	AP3B1	OMIM:608233
HP:0012823	Clinical modifier	2317	FLNB	OMIM:108720
HP:0012823	Clinical modifier	1717	DHCR7	OMIM:270400
HP:0012823	Clinical modifier	860	RUNX2	OMIM:119600
HP:0012823	Clinical modifier	4212	MEIS2	OMIM:600987
HP:0012823	Clinical modifier	4697	NDUFA4	OMIM:619065
HP:0012823	Clinical modifier	51199	NIN	OMIM:614851
HP:0012823	Clinical modifier	60	ACTB	OMIM:607371
HP:0012823	Clinical modifier	6663	SOX10	OMIM:611584
HP:0012823	Clinical modifier	5144	PDE4D	OMIM:614613
HP:0012823	Clinical modifier	117155	CATSPER2	OMIM:611102
HP:0012823	Clinical modifier	161497	STRC	OMIM:611102
HP:0012823	Clinical modifier	649	BMP1	OMIM:614856
HP:0012823	Clinical modifier	2301	FOXE3	OMIM:610256
HP:0012823	Clinical modifier	51021	MRPS16	OMIM:610498
HP:0012823	Clinical modifier	26005	C2CD3	OMIM:615948
HP:0012823	Clinical modifier	1906	EDN1	OMIM:615706
HP:0012823	Clinical modifier	374393	FAM111B	OMIM:615704
HP:0012823	Clinical modifier	5826	ABCD4	OMIM:614857
HP:0012823	Clinical modifier	6911	TBX6	OMIM:122600
HP:0012823	Clinical modifier	1174	AP1S1	OMIM:609313
HP:0012823	Clinical modifier	374654	KIF7	OMIM:607131
HP:0012823	Clinical modifier	2743	GLRB	OMIM:614619
HP:0012823	Clinical modifier	26227	PHGDH	OMIM:256520
HP:0012823	Clinical modifier	117531	TMC1	OMIM:600974
HP:0012823	Clinical modifier	222546	RFX6	OMIM:615710
HP:0012823	Clinical modifier	54084	TSPEAR	OMIM:614861
HP:0012823	Clinical modifier	171019	ADAMTS19	OMIM:620067
HP:0012823	Clinical modifier	10518	CIB2	OMIM:614869
HP:0012823	Clinical modifier	4952	OCRL	OMIM:309000
HP:0012823	Clinical modifier	83475	DOHH	OMIM:620066
HP:0012823	Clinical modifier	84992	PIGY	OMIM:616809
HP:0012823	Clinical modifier	10236	HNRNPR	OMIM:620073
HP:0012823	Clinical modifier	51611	DPH5	OMIM:620070
HP:0012823	Clinical modifier	78989	COLEC11	OMIM:265050
HP:0012823	Clinical modifier	6558	SLC12A2	OMIM:619080
HP:0012823	Clinical modifier	402	ARL2	OMIM:619082
HP:0012823	Clinical modifier	5192	PEX10	OMIM:614870
HP:0012823	Clinical modifier	55670	PEX26	OMIM:614872
HP:0012823	Clinical modifier	488	ATP2A2	OMIM:101900
HP:0012823	Clinical modifier	28976	ACAD9	OMIM:611126
HP:0012823	Clinical modifier	1588	CYP19A1	OMIM:613546
HP:0012823	Clinical modifier	7443	VRK1	OMIM:607596
HP:0012823	Clinical modifier	471	ATIC	OMIM:608688
HP:0012823	Clinical modifier	3911	LAMA5	OMIM:620076
HP:0012823	Clinical modifier	3187	HNRNPH1	OMIM:620083
HP:0012823	Clinical modifier	7837	PXDN	OMIM:269400
HP:0012823	Clinical modifier	4920	ROR2	OMIM:268310
HP:0012823	Clinical modifier	2059	EPS8	OMIM:615974
HP:0012823	Clinical modifier	26022	TMEM98	OMIM:615972
HP:0012823	Clinical modifier	140628	GATA5	OMIM:617912
HP:0012823	Clinical modifier	11023	VAX1	OMIM:614402
HP:0012823	Clinical modifier	5824	PEX19	OMIM:614886
HP:0012823	Clinical modifier	157570	ESCO2	OMIM:268300
HP:0012823	Clinical modifier	5631	PRPS1	OMIM:300661
HP:0012823	Clinical modifier	9775	EIF4A3	OMIM:268305
HP:0012823	Clinical modifier	25861	WHRN	OMIM:611383
HP:0012823	Clinical modifier	123016	TTC8	OMIM:615985
HP:0012823	Clinical modifier	51025	PAM16	OMIM:613320
HP:0012823	Clinical modifier	585	BBS4	OMIM:615982
HP:0012823	Clinical modifier	22954	TRIM32	OMIM:615988
HP:0012823	Clinical modifier	51475	CABP2	OMIM:614899
HP:0012823	Clinical modifier	166379	BBS12	OMIM:615989
HP:0012823	Clinical modifier	10664	CTCF	OMIM:615502
HP:0012823	Clinical modifier	27241	BBS9	OMIM:615986
HP:0012823	Clinical modifier	1828	DSG1	OMIM:615508
HP:0012823	Clinical modifier	5054	SERPINE1	OMIM:613329
HP:0012823	Clinical modifier	865	CBFB	OMIM:620099
HP:0012823	Clinical modifier	7051	TGM1	OMIM:242300
HP:0012823	Clinical modifier	579	NKX3-2	OMIM:613330
HP:0012823	Clinical modifier	4683	NBN	OMIM:251260
HP:0012823	Clinical modifier	11020	IFT27	OMIM:615996
HP:0012823	Clinical modifier	81607	NECTIN4	OMIM:613573
HP:0012823	Clinical modifier	54585	LZTFL1	OMIM:615994
HP:0012823	Clinical modifier	658	BMPR1B	OMIM:616849
HP:0012823	Clinical modifier	1417	CRYBB3	OMIM:609741
HP:0012823	Clinical modifier	8556	CDC14A	OMIM:608653
HP:0012823	Clinical modifier	91179	SCARF2	OMIM:600920
HP:0012823	Clinical modifier	9662	CEP135	OMIM:614673
HP:0012823	Clinical modifier	10370	CITED2	OMIM:614431
HP:0012823	Clinical modifier	1482	NKX2-5	OMIM:614432
HP:0012823	Clinical modifier	1482	NKX2-5	OMIM:614435
HP:0012823	Clinical modifier	388389	CCDC103	OMIM:614679
HP:0012823	Clinical modifier	30008	EFEMP2	OMIM:614437
HP:0012823	Clinical modifier	5831	PYCR1	OMIM:614438
HP:0012823	Clinical modifier	5915	RARB	OMIM:615524
HP:0012823	Clinical modifier	51010	EXOSC3	OMIM:614678
HP:0012823	Clinical modifier	51259	TMEM216	OMIM:603194
HP:0012823	Clinical modifier	55997	CFC1	OMIM:605376
HP:0012823	Clinical modifier	5932	RBBP8	OMIM:251255
HP:0012823	Clinical modifier	78987	CRELD1	OMIM:606217
HP:0012823	Clinical modifier	203068	TUBB	OMIM:615771
HP:0012823	Clinical modifier	9631	NUP155	OMIM:615770
HP:0012823	Clinical modifier	10265	IRX5	OMIM:611174
HP:0012823	Clinical modifier	81027	TUBB1	OMIM:613112
HP:0012823	Clinical modifier	7026	NR2F2	OMIM:615779
HP:0012823	Clinical modifier	51008	ASCC1	OMIM:616867
HP:0012823	Clinical modifier	708	C1QBP	OMIM:617713
HP:0012823	Clinical modifier	1063	CENPF	OMIM:243605
HP:0012823	Clinical modifier	29940	DSE	OMIM:615539
HP:0012823	Clinical modifier	91647	ATPAF2	OMIM:604273
HP:0012823	Clinical modifier	727857	BHLHA9	OMIM:607539
HP:0012823	Clinical modifier	338917	VSX2	OMIM:610093
HP:0012823	Clinical modifier	79796	ALG9	OMIM:263210
HP:0012823	Clinical modifier	79633	FAT4	OMIM:615546
HP:0012823	Clinical modifier	9419	CRIPT	OMIM:615789
HP:0012823	Clinical modifier	55644	OSGEP	OMIM:617729
HP:0012823	Clinical modifier	57572	DOCK6	OMIM:614219
HP:0012823	Clinical modifier	242	ALOX12B	OMIM:242100
HP:0012823	Clinical modifier	401	PHOX2A	OMIM:602078
HP:0012823	Clinical modifier	8200	GDF5	OMIM:200700
HP:0012823	Clinical modifier	348938	NIPAL4	OMIM:612281
HP:0012823	Clinical modifier	6628	SNRPB	OMIM:117650
HP:0012823	Clinical modifier	6138	RPL15	OMIM:615550
HP:0012823	Clinical modifier	163786	SASS6	OMIM:616402
HP:0012823	Clinical modifier	25782	RAB3GAP2	OMIM:614225
HP:0012823	Clinical modifier	22931	RAB18	OMIM:614222
HP:0012823	Clinical modifier	23443	SLC35A3	OMIM:615553
HP:0012823	Clinical modifier	29957	SLC25A24	OMIM:612289
HP:0012823	Clinical modifier	3039	HBA1	OMIM:617973
HP:0012823	Clinical modifier	51776	MAP3K20	OMIM:616890
HP:0012823	Clinical modifier	3199	HOXA2	OMIM:612290
HP:0012823	Clinical modifier	51124	IER3IP1	OMIM:614231
HP:0012823	Clinical modifier	9918	NCAPD2	OMIM:617983
HP:0012823	Clinical modifier	54870	QRICH1	OMIM:617982
HP:0012823	Clinical modifier	2627	GATA6	OMIM:614474
HP:0012823	Clinical modifier	2627	GATA6	OMIM:614475
HP:0012823	Clinical modifier	11005	SPINK5	OMIM:256500
HP:0012823	Clinical modifier	23397	NCAPH	OMIM:617985
HP:0012823	Clinical modifier	55704	CCDC88A	OMIM:617507
HP:0012823	Clinical modifier	5500	PPP1CB	OMIM:617506
HP:0012823	Clinical modifier	7253	TSHR	OMIM:275200
HP:0012823	Clinical modifier	3284	HSD3B2	OMIM:201810
HP:0012823	Clinical modifier	5889	RAD51C	OMIM:613390
HP:0012823	Clinical modifier	200205	IBA57	OMIM:615330
HP:0012823	Clinical modifier	7431	VIM	OMIM:116300
HP:0012823	Clinical modifier	1663	DDX11	OMIM:613398
HP:0012823	Clinical modifier	119559	SFXN4	OMIM:615578
HP:0012823	Clinical modifier	51684	SUFU	OMIM:617757
HP:0012823	Clinical modifier	9439	MED23	OMIM:614249
HP:0012823	Clinical modifier	57731	SPTBN4	OMIM:617519
HP:0012823	Clinical modifier	5307	PITX1	OMIM:119800
HP:0012823	Clinical modifier	22827	PUF60	OMIM:615583
HP:0012823	Clinical modifier	2815	GP9	OMIM:231200
HP:0012823	Clinical modifier	2811	GP1BA	OMIM:231200
HP:0012823	Clinical modifier	2812	GP1BB	OMIM:231200
HP:0012823	Clinical modifier	29089	UBE2T	OMIM:616435
HP:0012823	Clinical modifier	127534	GJB4	OMIM:617524
HP:0012823	Clinical modifier	85378	TUBGCP6	OMIM:251270
HP:0012823	Clinical modifier	9181	ARHGEF2	OMIM:617523
HP:0012823	Clinical modifier	10058	ABCB6	OMIM:614497
HP:0012823	Clinical modifier	6688	SPI1	OMIM:619707
HP:0012823	Clinical modifier	9373	PLAA	OMIM:617527
HP:0012823	Clinical modifier	100128908	CIROP	OMIM:619702
HP:0012823	Clinical modifier	2531	KDSR	OMIM:617526
HP:0012823	Clinical modifier	401474	SAMD12	OMIM:601068
HP:0012823	Clinical modifier	51726	DNAJB11	OMIM:618061
HP:0012823	Clinical modifier	23646	PLD3	OMIM:617770
HP:0012823	Clinical modifier	735	C9	OMIM:615591
HP:0012823	Clinical modifier	5949	RBP3	OMIM:615233
HP:0012823	Clinical modifier	25913	POT1	OMIM:616568
HP:0012823	Clinical modifier	25913	POT1	OMIM:615848
HP:0012823	Clinical modifier	8291	DYSF	OMIM:254130
HP:0012823	Clinical modifier	2153	F5	OMIM:600880
HP:0012823	Clinical modifier	2153	F5	OMIM:188055
HP:0012823	Clinical modifier	2153	F5	OMIM:601367
HP:0012823	Clinical modifier	27327	TNRC6A	OMIM:618074
HP:0012823	Clinical modifier	2767	GNA11	OMIM:615361
HP:0012823	Clinical modifier	9693	RAPGEF2	OMIM:618075
HP:0012823	Clinical modifier	64072	CDH23	OMIM:617540
HP:0012823	Clinical modifier	101060691	NUTM2B-AS1	OMIM:618637
HP:0012823	Clinical modifier	4790	NFKB1	OMIM:616576
HP:0012823	Clinical modifier	10165	SLC25A13	OMIM:603471
HP:0012823	Clinical modifier	2642	GCGR	OMIM:619290
HP:0012823	Clinical modifier	23347	SMCHD1	OMIM:158901
HP:0012823	Clinical modifier	6794	STK11	OMIM:260350
HP:0012823	Clinical modifier	4089	SMAD4	OMIM:260350
HP:0012823	Clinical modifier	283677	REC114	OMIM:619176
HP:0012823	Clinical modifier	6575	SLC20A2	OMIM:213600
HP:0012823	Clinical modifier	9639	ARHGEF10	OMIM:608236
HP:0012823	Clinical modifier	9499	MYOT	OMIM:609200
HP:0012823	Clinical modifier	7276	TTR	OMIM:105210
HP:0012823	Clinical modifier	10273	STUB1	OMIM:618093
HP:0012823	Clinical modifier	6687	SPG7	OMIM:607259
HP:0012823	Clinical modifier	54840	APTX	OMIM:208920
HP:0012823	Clinical modifier	4582	MUC1	OMIM:174000
HP:0012823	Clinical modifier	29880	ALG5	OMIM:620056
HP:0012823	Clinical modifier	2259	FGF14	OMIM:620174
HP:0012823	Clinical modifier	1938	EEF2	OMIM:609306
HP:0012823	Clinical modifier	7012	TERC	OMIM:614743
HP:0012823	Clinical modifier	79798	ARMC5	OMIM:615954
HP:0012823	Clinical modifier	8557	TCAP	OMIM:607487
HP:0012823	Clinical modifier	54440	SASH3	OMIM:301082
HP:0012823	Clinical modifier	8048	CSRP3	OMIM:607482
HP:0012823	Clinical modifier	8048	CSRP3	OMIM:612124
HP:0012823	Clinical modifier	4040	LRP6	OMIM:610947
HP:0012823	Clinical modifier	3931	LCAT	OMIM:245900
HP:0012823	Clinical modifier	51750	RTEL1	OMIM:616373
HP:0012823	Clinical modifier	80206	FHOD3	OMIM:619402
HP:0012823	Clinical modifier	9247	GCM2	OMIM:617343
HP:0012823	Clinical modifier	23400	ATP13A2	OMIM:617225
HP:0012823	Clinical modifier	866	SERPINA6	OMIM:611489
HP:0012823	Clinical modifier	4205	MEF2A	OMIM:608320
HP:0012823	Clinical modifier	57104	PNPLA2	OMIM:610717
HP:0012823	Clinical modifier	1769	DNAH8	OMIM:619095
HP:0012823	Clinical modifier	9180	OSMR	OMIM:105250
HP:0012823	Clinical modifier	4846	NOS3	OMIM:601367
HP:0012823	Clinical modifier	4846	NOS3	OMIM:104300
HP:0012823	Clinical modifier	5583	PRKCH	OMIM:601367
HP:0012823	Clinical modifier	241	ALOX5AP	OMIM:601367
HP:0012823	Clinical modifier	64241	ABCG8	OMIM:210250
HP:0012823	Clinical modifier	6330	SCN4B	OMIM:611819
HP:0012823	Clinical modifier	3617	IMPG1	OMIM:616151
HP:0012823	Clinical modifier	5424	POLD1	OMIM:612591
HP:0012823	Clinical modifier	11231	SEC63	OMIM:617004
HP:0012823	Clinical modifier	144245	ALG10B	OMIM:613688
HP:0012823	Clinical modifier	3757	KCNH2	OMIM:613688
HP:0012823	Clinical modifier	57592	ZNF687	OMIM:616833
HP:0012823	Clinical modifier	23534	TNPO3	OMIM:608423
HP:0012823	Clinical modifier	2157	F8	OMIM:301071
HP:0012823	Clinical modifier	2934	GSN	OMIM:105120
HP:0012823	Clinical modifier	6310	ATXN1	OMIM:164400
HP:0012823	Clinical modifier	2774	GNAL	OMIM:615073
HP:0012823	Clinical modifier	126129	CPT1C	OMIM:616282
HP:0012823	Clinical modifier	8076	MFAP5	OMIM:616166
HP:0012823	Clinical modifier	1356	CP	OMIM:604290
HP:0012823	Clinical modifier	23345	SYNE1	OMIM:610743
HP:0012823	Clinical modifier	4353	MPO	OMIM:104300
HP:0012823	Clinical modifier	3077	HFE	OMIM:104300
HP:0012823	Clinical modifier	5328	PLAU	OMIM:104300
HP:0012823	Clinical modifier	2495	FTH1	OMIM:615517
HP:0012823	Clinical modifier	669	BPGM	OMIM:222800
HP:0012823	Clinical modifier	1743	DLST	OMIM:618475
HP:0012823	Clinical modifier	518	ATP5MC3	OMIM:619681
HP:0012823	Clinical modifier	4771	NF2	OMIM:162091
HP:0012823	Clinical modifier	4771	NF2	OMIM:607174
HP:0012823	Clinical modifier	6598	SMARCB1	OMIM:162091
HP:0012823	Clinical modifier	2784	GNB3	OMIM:617024
HP:0012823	Clinical modifier	123624	AGBL1	OMIM:615523
HP:0012823	Clinical modifier	4363	ABCC1	OMIM:618915
HP:0012823	Clinical modifier	2027	ENO3	OMIM:612932
HP:0012823	Clinical modifier	54344	DPM3	OMIM:612937
HP:0012823	Clinical modifier	2710	GK	OMIM:307030
HP:0012823	Clinical modifier	6391	SDHC	OMIM:605373
HP:0012823	Clinical modifier	4633	MYL2	OMIM:608758
HP:0012823	Clinical modifier	55737	VPS35	OMIM:614203
HP:0012823	Clinical modifier	56244	BTNL2	OMIM:612387
HP:0012823	Clinical modifier	64423	INF2	OMIM:613237
HP:0012823	Clinical modifier	3273	HRG	OMIM:613116
HP:0012823	Clinical modifier	2771	GNAI2	OMIM:192605
HP:0012823	Clinical modifier	11315	PARK7	OMIM:606324
HP:0012823	Clinical modifier	219972	MPEG1	OMIM:619223
HP:0012823	Clinical modifier	7046	TGFBR1	OMIM:132800
HP:0012823	Clinical modifier	51428	DDX41	OMIM:616871
HP:0012823	Clinical modifier	5981	RFC1	OMIM:614575
HP:0012823	Clinical modifier	130951	M1AP	OMIM:619108
HP:0012823	Clinical modifier	81790	RNF170	OMIM:608984
HP:0012823	Clinical modifier	595	CCND1	OMIM:254500
HP:0012823	Clinical modifier	3981	LIG4	OMIM:254500
HP:0012823	Clinical modifier	5137	PDE1C	OMIM:618140
HP:0012823	Clinical modifier	11284	PNKP	OMIM:605589
HP:0012823	Clinical modifier	55213	RCBTB1	OMIM:617175
HP:0012823	Clinical modifier	6424	SFRP4	OMIM:265900
HP:0012823	Clinical modifier	1789	DNMT3B	OMIM:619478
HP:0012823	Clinical modifier	6336	SCN10A	OMIM:615551
HP:0012823	Clinical modifier	8216	LZTR1	OMIM:615670
HP:0012823	Clinical modifier	115650	TNFRSF13C	OMIM:613494
HP:0012823	Clinical modifier	6935	ZEB1	OMIM:609141
HP:0012823	Clinical modifier	5592	PRKG1	OMIM:615436
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:607641
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:105400
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:168605
HP:0012823	Clinical modifier	7345	UCHL1	OMIM:620221
HP:0012823	Clinical modifier	5589	PRKCSH	OMIM:174050
HP:0012823	Clinical modifier	203228	C9orf72	OMIM:105550
HP:0012823	Clinical modifier	54949	SDHAF2	OMIM:601650
HP:0012823	Clinical modifier	56910	STARD7	OMIM:607876
HP:0012823	Clinical modifier	7504	XK	OMIM:300842
HP:0012823	Clinical modifier	7222	TRPC3	OMIM:616410
HP:0012823	Clinical modifier	10699	CORIN	OMIM:614595
HP:0012823	Clinical modifier	2956	MSH6	OMIM:614350
HP:0012823	Clinical modifier	9213	XPR1	OMIM:616413
HP:0012823	Clinical modifier	6925	TCF4	OMIM:613267
HP:0012823	Clinical modifier	4913	NTHL1	OMIM:616415
HP:0012823	Clinical modifier	10342	TFG	OMIM:604484
HP:0012823	Clinical modifier	1756	DMD	OMIM:300376
HP:0012823	Clinical modifier	3123	HLA-DRB1	OMIM:181000
HP:0012823	Clinical modifier	3123	HLA-DRB1	OMIM:126200
HP:0012823	Clinical modifier	4221	MEN1	OMIM:131100
HP:0012823	Clinical modifier	56983	POGLUT1	OMIM:615696
HP:0012823	Clinical modifier	7056	THBD	OMIM:614486
HP:0012823	Clinical modifier	6522	SLC4A2	OMIM:620366
HP:0012823	Clinical modifier	65057	ACD	OMIM:616553
HP:0012823	Clinical modifier	6041	RNASEL	OMIM:601518
HP:0012823	Clinical modifier	159686	CFAP58	OMIM:619144
HP:0012823	Clinical modifier	999	CDH1	OMIM:137215
HP:0012823	Clinical modifier	1584	CYP11B1	OMIM:103900
HP:0012823	Clinical modifier	5630	PRPH	OMIM:105400
HP:0012823	Clinical modifier	4744	NEFH	OMIM:105400
HP:0012823	Clinical modifier	9987	HNRNPDL	OMIM:609115
HP:0012823	Clinical modifier	4330	MN1	OMIM:607174
HP:0012823	Clinical modifier	6605	SMARCE1	OMIM:607174
HP:0012823	Clinical modifier	5133	PDCD1	OMIM:126200
HP:0012823	Clinical modifier	6786	STIM1	OMIM:160565
HP:0012823	Clinical modifier	114902	C1QTNF5	OMIM:605670
HP:0012823	Clinical modifier	146227	BEAN1	OMIM:117210
HP:0012823	Clinical modifier	6208	RPS14	OMIM:153550
HP:0012823	Clinical modifier	79188	TMEM43	OMIM:619832
HP:0012823	Clinical modifier	3875	KRT18	OMIM:215600
HP:0012823	Clinical modifier	644	BLVRA	OMIM:614156
HP:0012823	Clinical modifier	83872	HMCN1	OMIM:603075
HP:0012823	Clinical modifier	3078	CFHR1	OMIM:603075
HP:0012823	Clinical modifier	10878	CFHR3	OMIM:603075
HP:0012823	Clinical modifier	11155	LDB3	OMIM:609452
HP:0012823	Clinical modifier	146057	TTBK2	OMIM:604432
HP:0012823	Clinical modifier	3818	KLKB1	OMIM:612423
HP:0012823	Clinical modifier	2332	FMR1	OMIM:300623
HP:0012823	Clinical modifier	7156	TOP3A	OMIM:618098
HP:0012823	Clinical modifier	10347	ABCA7	OMIM:608907
HP:0012823	Clinical modifier	4607	MYBPC3	OMIM:615396
HP:0012823	Clinical modifier	79719	AAGAB	OMIM:148600
HP:0012823	Clinical modifier	6934	TCF7L2	OMIM:125853
HP:0012823	Clinical modifier	2645	GCK	OMIM:125853
HP:0012823	Clinical modifier	3172	HNF4A	OMIM:125853
HP:0012823	Clinical modifier	3569	IL6	OMIM:125853
HP:0012823	Clinical modifier	3990	LIPC	OMIM:125853
HP:0012823	Clinical modifier	9479	MAPK8IP1	OMIM:125853
HP:0012823	Clinical modifier	56729	RETN	OMIM:125853
HP:0012823	Clinical modifier	4544	MTNR1B	OMIM:125853
HP:0012823	Clinical modifier	5506	PPP1R3A	OMIM:125853
HP:0012823	Clinical modifier	7466	WFS1	OMIM:125853
HP:0012823	Clinical modifier	6833	ABCC8	OMIM:125853
HP:0012823	Clinical modifier	10644	IGF2BP2	OMIM:125853
HP:0012823	Clinical modifier	5770	PTPN1	OMIM:125853
HP:0012823	Clinical modifier	8660	IRS2	OMIM:125853
HP:0012823	Clinical modifier	3159	HMGA1	OMIM:125853
HP:0012823	Clinical modifier	5078	PAX4	OMIM:125853
HP:0012823	Clinical modifier	6928	HNF1B	OMIM:125853
HP:0012823	Clinical modifier	3667	IRS1	OMIM:125853
HP:0012823	Clinical modifier	5468	PPARG	OMIM:125853
HP:0012823	Clinical modifier	4760	NEUROD1	OMIM:125853
HP:0012823	Clinical modifier	169026	SLC30A8	OMIM:125853
HP:0012823	Clinical modifier	2820	GPD2	OMIM:125853
HP:0012823	Clinical modifier	8106	PABPN1	OMIM:164300
HP:0012823	Clinical modifier	120892	LRRK2	OMIM:607060
HP:0012823	Clinical modifier	23435	TARDBP	OMIM:612069
HP:0012823	Clinical modifier	54443	ANLN	OMIM:616032
HP:0012823	Clinical modifier	123606	NIPA1	OMIM:600363
HP:0012823	Clinical modifier	6683	SPAST	OMIM:182601
HP:0012823	Clinical modifier	2747	GLUD2	OMIM:168600
HP:0012823	Clinical modifier	126	ADH1C	OMIM:168600
HP:0012823	Clinical modifier	4576	MT-TT	OMIM:168600
HP:0012823	Clinical modifier	9627	SNCAIP	OMIM:168600
HP:0012823	Clinical modifier	6311	ATXN2	OMIM:168600
HP:0012823	Clinical modifier	6315	ATXN8OS	OMIM:168600
HP:0012823	Clinical modifier	51062	ATL1	OMIM:182600
HP:0012823	Clinical modifier	2673	GFPT1	OMIM:608931
HP:0012823	Clinical modifier	1145	CHRNE	OMIM:608931
HP:0012823	Clinical modifier	1145	CHRNE	OMIM:616324
HP:0012823	Clinical modifier	7428	VHL	OMIM:263400
HP:0012823	Clinical modifier	3071	NCKAP1L	OMIM:618982
HP:0012823	Clinical modifier	51256	TBC1D7	OMIM:248000
HP:0012823	Clinical modifier	340533	NEXMIF	OMIM:300912
HP:0012823	Clinical modifier	1144	CHRND	OMIM:616322
HP:0012823	Clinical modifier	1144	CHRND	OMIM:616321
HP:0012823	Clinical modifier	2775	GNAO1	OMIM:615473
HP:0012823	Clinical modifier	2775	GNAO1	OMIM:617493
HP:0012823	Clinical modifier	23135	KDM6B	OMIM:618505
HP:0012823	Clinical modifier	79827	CLMP	OMIM:615237
HP:0012823	Clinical modifier	4593	MUSK	OMIM:616325
HP:0012823	Clinical modifier	7291	TWIST1	OMIM:123100
HP:0012823	Clinical modifier	7291	TWIST1	OMIM:180750
HP:0012823	Clinical modifier	55240	STEAP3	OMIM:615234
HP:0012823	Clinical modifier	23334	SZT2	OMIM:615476
HP:0012823	Clinical modifier	4919	ROR1	OMIM:617654
HP:0012823	Clinical modifier	9254	CACNA2D2	OMIM:618501
HP:0012823	Clinical modifier	3767	KCNJ11	OMIM:616329
HP:0012823	Clinical modifier	3767	KCNJ11	OMIM:610582
HP:0012823	Clinical modifier	81570	CLPB	OMIM:619835
HP:0012823	Clinical modifier	81570	CLPB	OMIM:619813
HP:0012823	Clinical modifier	81570	CLPB	OMIM:616271
HP:0012823	Clinical modifier	4552	MTRR	OMIM:236270
HP:0012823	Clinical modifier	54332	GDAP1	OMIM:607831
HP:0012823	Clinical modifier	54332	GDAP1	OMIM:214400
HP:0012823	Clinical modifier	54332	GDAP1	OMIM:608340
HP:0012823	Clinical modifier	56704	JPH1	OMIM:607831
HP:0012823	Clinical modifier	161582	DNAAF4	OMIM:615482
HP:0012823	Clinical modifier	4210	MEFV	OMIM:249100
HP:0012823	Clinical modifier	65993	MRPS34	OMIM:617664
HP:0012823	Clinical modifier	283489	CHAMP1	OMIM:616579
HP:0012823	Clinical modifier	477	ATP1A2	OMIM:619605
HP:0012823	Clinical modifier	1841	DTYMK	OMIM:619847
HP:0012823	Clinical modifier	6487	ST3GAL3	OMIM:615006
HP:0012823	Clinical modifier	478	ATP1A3	OMIM:619606
HP:0012823	Clinical modifier	478	ATP1A3	OMIM:601338
HP:0012823	Clinical modifier	166378	AFG2A	OMIM:616577
HP:0012823	Clinical modifier	84936	ZFYVE19	OMIM:619849
HP:0012823	Clinical modifier	7532	YWHAG	OMIM:617665
HP:0012823	Clinical modifier	55904	KMT2E	OMIM:618512
HP:0012823	Clinical modifier	84520	GON7	OMIM:619603
HP:0012823	Clinical modifier	51112	TRAPPC12	OMIM:617669
HP:0012823	Clinical modifier	8526	DGKE	OMIM:615008
HP:0012823	Clinical modifier	1161	ERCC8	OMIM:216400
HP:0012823	Clinical modifier	1161	ERCC8	OMIM:614621
HP:0012823	Clinical modifier	79158	GNPTAB	OMIM:252500
HP:0012823	Clinical modifier	79693	YRDC	OMIM:619609
HP:0012823	Clinical modifier	4625	MYH7	OMIM:160500
HP:0012823	Clinical modifier	4625	MYH7	OMIM:613426
HP:0012823	Clinical modifier	284403	WDR62	OMIM:604317
HP:0012823	Clinical modifier	7054	TH	OMIM:605407
HP:0012823	Clinical modifier	2212	FCGR2A	OMIM:219700
HP:0012823	Clinical modifier	7040	TGFB1	OMIM:219700
HP:0012823	Clinical modifier	1080	CFTR	OMIM:219700
HP:0012823	Clinical modifier	1896	EDA	OMIM:305100
HP:0012823	Clinical modifier	54345	SOX18	OMIM:607823
HP:0012823	Clinical modifier	54345	SOX18	OMIM:137940
HP:0012823	Clinical modifier	55687	TRMU	OMIM:613070
HP:0012823	Clinical modifier	4318	MMP9	OMIM:613073
HP:0012823	Clinical modifier	23321	TRIM2	OMIM:615490
HP:0012823	Clinical modifier	818	CAMK2G	OMIM:618522
HP:0012823	Clinical modifier	5832	ALDH18A1	OMIM:616586
HP:0012823	Clinical modifier	5832	ALDH18A1	OMIM:219150
HP:0012823	Clinical modifier	54453	RIN2	OMIM:613075
HP:0012823	Clinical modifier	5105	PCK1	OMIM:261680
HP:0012823	Clinical modifier	6884	TAF13	OMIM:617432
HP:0012823	Clinical modifier	103	ADAR	OMIM:615010
HP:0012823	Clinical modifier	103	ADAR	OMIM:127400
HP:0012823	Clinical modifier	7343	UBTF	OMIM:617672
HP:0012823	Clinical modifier	6844	VAMP2	OMIM:618760
HP:0012823	Clinical modifier	79029	AFG2B	OMIM:619616
HP:0012823	Clinical modifier	64834	ELOVL1	OMIM:618527
HP:0012823	Clinical modifier	7852	CXCR4	OMIM:193670
HP:0012823	Clinical modifier	11232	POLG2	OMIM:618528
HP:0012823	Clinical modifier	1759	DNM1	OMIM:616346
HP:0012823	Clinical modifier	1759	DNM1	OMIM:620352
HP:0012823	Clinical modifier	3064	HTT	OMIM:617435
HP:0012823	Clinical modifier	7436	VLDLR	OMIM:224050
HP:0012823	Clinical modifier	3614	IMPDH1	OMIM:180105
HP:0012823	Clinical modifier	90167	FRMD7	OMIM:310700
HP:0012823	Clinical modifier	1105	CHD1	OMIM:617682
HP:0012823	Clinical modifier	5297	PI4KA	OMIM:619621
HP:0012823	Clinical modifier	5297	PI4KA	OMIM:619708
HP:0012823	Clinical modifier	8789	FBP2	OMIM:619864
HP:0012823	Clinical modifier	57231	SNX14	OMIM:616354
HP:0012823	Clinical modifier	23327	NEDD4L	OMIM:617201
HP:0012823	Clinical modifier	5073	PARN	OMIM:616353
HP:0012823	Clinical modifier	3340	NDST1	OMIM:616116
HP:0012823	Clinical modifier	58484	NLRC4	OMIM:616115
HP:0012823	Clinical modifier	284184	NDUFAF8	OMIM:618776
HP:0012823	Clinical modifier	6905	TBCE	OMIM:617207
HP:0012823	Clinical modifier	4645	MYO5B	OMIM:619868
HP:0012823	Clinical modifier	4247	MGAT2	OMIM:212066
HP:0012823	Clinical modifier	5373	PMM2	OMIM:212065
HP:0012823	Clinical modifier	167691	LCA5	OMIM:604537
HP:0012823	Clinical modifier	113612	CYP2U1	OMIM:615030
HP:0012823	Clinical modifier	30009	TBX21	OMIM:619630
HP:0012823	Clinical modifier	55768	NGLY1	OMIM:615273
HP:0012823	Clinical modifier	26038	CHD5	OMIM:619873
HP:0012823	Clinical modifier	5034	P4HB	OMIM:112240
HP:0012823	Clinical modifier	8482	SEMA7A	OMIM:619874
HP:0012823	Clinical modifier	55621	TRMT1	OMIM:618302
HP:0012823	Clinical modifier	3737	KCNA2	OMIM:616366
HP:0012823	Clinical modifier	23126	POGZ	OMIM:616364
HP:0012823	Clinical modifier	55773	TBC1D23	OMIM:617695
HP:0012823	Clinical modifier	57680	CHD8	OMIM:615032
HP:0012823	Clinical modifier	3769	KCNJ13	OMIM:614186
HP:0012823	Clinical modifier	5593	PRKG2	OMIM:619638
HP:0012823	Clinical modifier	55280	CWF19L1	OMIM:616127
HP:0012823	Clinical modifier	92609	TIMM50	OMIM:617698
HP:0012823	Clinical modifier	51692	CPSF3	OMIM:619876
HP:0012823	Clinical modifier	116115	ZNF526	OMIM:619877
HP:0012823	Clinical modifier	7173	TPO	OMIM:274500
HP:0012823	Clinical modifier	111	ADCY5	OMIM:606703
HP:0012823	Clinical modifier	111	ADCY5	OMIM:619651
HP:0012823	Clinical modifier	3507	IGHM	OMIM:601495
HP:0012823	Clinical modifier	5605	MAP2K2	OMIM:615280
HP:0012823	Clinical modifier	5244	ABCB4	OMIM:602347
HP:0012823	Clinical modifier	54828	BCAS3	OMIM:619641
HP:0012823	Clinical modifier	9276	COPB2	OMIM:619884
HP:0012823	Clinical modifier	1615	DARS1	OMIM:615281
HP:0012823	Clinical modifier	122961	ISCA2	OMIM:616370
HP:0012823	Clinical modifier	8989	TRPA1	OMIM:615040
HP:0012823	Clinical modifier	57169	ZNFX1	OMIM:619644
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:614198
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:170500
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:170400
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:168300
HP:0012823	Clinical modifier	56098	PCDHGC4	OMIM:619880
HP:0012823	Clinical modifier	11311	VPS45	OMIM:615285
HP:0012823	Clinical modifier	10991	SLC38A3	OMIM:619881
HP:0012823	Clinical modifier	27068	PPA2	OMIM:617222
HP:0012823	Clinical modifier	113179	ADAT3	OMIM:615286
HP:0012823	Clinical modifier	1742	DLG4	OMIM:618793
HP:0012823	Clinical modifier	2904	GRIN2B	OMIM:616139
HP:0012823	Clinical modifier	4285	MIPEP	OMIM:617228
HP:0012823	Clinical modifier	641	BLM	OMIM:210900
HP:0012823	Clinical modifier	476	ATP1A1	OMIM:618314
HP:0012823	Clinical modifier	10531	PITRM1	OMIM:619405
HP:0012823	Clinical modifier	79971	WLS	OMIM:619648
HP:0012823	Clinical modifier	6901	TAFAZZIN	OMIM:302060
HP:0012823	Clinical modifier	56652	TWNK	OMIM:271245
HP:0012823	Clinical modifier	57609	DIP2B	OMIM:136630
HP:0012823	Clinical modifier	4488	MSX2	OMIM:604757
HP:0012823	Clinical modifier	3861	KRT14	OMIM:601001
HP:0012823	Clinical modifier	3861	KRT14	OMIM:131900
HP:0012823	Clinical modifier	23299	BICD2	OMIM:615290
HP:0012823	Clinical modifier	4351	MPI	OMIM:602579
HP:0012823	Clinical modifier	92749	DRC1	OMIM:615294
HP:0012823	Clinical modifier	55739	NAXD	OMIM:618321
HP:0012823	Clinical modifier	5354	PLP1	OMIM:312080
HP:0012823	Clinical modifier	5354	PLP1	OMIM:312920
HP:0012823	Clinical modifier	7143	TNR	OMIM:619653
HP:0012823	Clinical modifier	6843	VAMP1	OMIM:618323
HP:0012823	Clinical modifier	5917	RARS1	OMIM:616140
HP:0012823	Clinical modifier	3423	IDS	OMIM:309900
HP:0012823	Clinical modifier	125988	MICOS13	OMIM:618329
HP:0012823	Clinical modifier	8565	YARS1	OMIM:619418
HP:0012823	Clinical modifier	6572	SLC18A3	OMIM:617239
HP:0012823	Clinical modifier	2260	FGFR1	OMIM:166250
HP:0012823	Clinical modifier	5741	PTH	OMIM:146200
HP:0012823	Clinical modifier	2720	GLB1	OMIM:230500
HP:0012823	Clinical modifier	23499	MACF1	OMIM:618325
HP:0012823	Clinical modifier	54532	USP53	OMIM:619658
HP:0012823	Clinical modifier	6533	SLC6A6	OMIM:145350
HP:0012823	Clinical modifier	3339	HSPG2	OMIM:255800
HP:0012823	Clinical modifier	6476	SI	OMIM:222900
HP:0012823	Clinical modifier	10533	ATG7	OMIM:619422
HP:0012823	Clinical modifier	9742	IFT140	OMIM:266920
HP:0012823	Clinical modifier	205327	C2orf69	OMIM:619423
HP:0012823	Clinical modifier	1523	CUX1	OMIM:618330
HP:0012823	Clinical modifier	55151	TMEM38B	OMIM:615066
HP:0012823	Clinical modifier	51693	TRAPPC2L	OMIM:618331
HP:0012823	Clinical modifier	113220	KIF12	OMIM:619662
HP:0012823	Clinical modifier	120	ADD3	OMIM:617008
HP:0012823	Clinical modifier	3000	GUCY2D	OMIM:204000
HP:0012823	Clinical modifier	7535	ZAP70	OMIM:617006
HP:0012823	Clinical modifier	7535	ZAP70	OMIM:269840
HP:0012823	Clinical modifier	2583	B4GALNT1	OMIM:609195
HP:0012823	Clinical modifier	5813	PURA	OMIM:616158
HP:0012823	Clinical modifier	5426	POLE	OMIM:618336
HP:0012823	Clinical modifier	1642	DDB1	OMIM:619426
HP:0012823	Clinical modifier	2744	GLS	OMIM:618339
HP:0012823	Clinical modifier	3242	HPD	OMIM:276710
HP:0012823	Clinical modifier	3242	HPD	OMIM:140350
HP:0012823	Clinical modifier	389827	MYMK	OMIM:254940
HP:0012823	Clinical modifier	8322	FZD4	OMIM:133780
HP:0012823	Clinical modifier	4041	LRP5	OMIM:133780
HP:0012823	Clinical modifier	4041	LRP5	OMIM:259770
HP:0012823	Clinical modifier	4041	LRP5	OMIM:601813
HP:0012823	Clinical modifier	9949	AMMECR1	OMIM:300990
HP:0012823	Clinical modifier	2074	ERCC6	OMIM:133540
HP:0012823	Clinical modifier	2074	ERCC6	OMIM:600630
HP:0012823	Clinical modifier	57459	GATAD2B	OMIM:615074
HP:0012823	Clinical modifier	695	BTK	OMIM:300755
HP:0012823	Clinical modifier	2243	FGA	OMIM:202400
HP:0012823	Clinical modifier	2244	FGB	OMIM:202400
HP:0012823	Clinical modifier	2266	FGG	OMIM:202400
HP:0012823	Clinical modifier	1499	CTNNB1	OMIM:615075
HP:0012823	Clinical modifier	1291	COL6A1	OMIM:254090
HP:0012823	Clinical modifier	1292	COL6A2	OMIM:254090
HP:0012823	Clinical modifier	1293	COL6A3	OMIM:254090
HP:0012823	Clinical modifier	84894	LINGO1	OMIM:618103
HP:0012823	Clinical modifier	7053	TGM3	OMIM:617251
HP:0012823	Clinical modifier	1441	CSF3R	OMIM:617014
HP:0012823	Clinical modifier	23516	SLC39A14	OMIM:617013
HP:0012823	Clinical modifier	160418	TMTC3	OMIM:617255
HP:0012823	Clinical modifier	2187	FANCB	OMIM:300514
HP:0012823	Clinical modifier	54517	PUS7	OMIM:618342
HP:0012823	Clinical modifier	10765	KDM5B	OMIM:618109
HP:0012823	Clinical modifier	10564	ARFGEF2	OMIM:608097
HP:0012823	Clinical modifier	79912	PYROXD1	OMIM:617258
HP:0012823	Clinical modifier	10785	WDR4	OMIM:618347
HP:0012823	Clinical modifier	4967	OGDH	OMIM:203740
HP:0012823	Clinical modifier	1798	DPAGT1	OMIM:608093
HP:0012823	Clinical modifier	1798	DPAGT1	OMIM:614750
HP:0012823	Clinical modifier	6418	SET	OMIM:618106
HP:0012823	Clinical modifier	3081	HGD	OMIM:203500
HP:0012823	Clinical modifier	9526	MPDU1	OMIM:609180
HP:0012823	Clinical modifier	8737	RIPK1	OMIM:618108
HP:0012823	Clinical modifier	4703	NEB	OMIM:256030
HP:0012823	Clinical modifier	959	CD40LG	OMIM:308230
HP:0012823	Clinical modifier	1120	CHKB	OMIM:602541
HP:0012823	Clinical modifier	2706	GJB2	OMIM:602540
HP:0012823	Clinical modifier	5575	PRKAR1B	OMIM:619680
HP:0012823	Clinical modifier	29887	SNX10	OMIM:615085
HP:0012823	Clinical modifier	5515	PPP2CA	OMIM:618354
HP:0012823	Clinical modifier	1294	COL7A1	OMIM:226600
HP:0012823	Clinical modifier	4312	MMP1	OMIM:226600
HP:0012823	Clinical modifier	64801	ARV1	OMIM:617020
HP:0012823	Clinical modifier	6647	SOD1	OMIM:618598
HP:0012823	Clinical modifier	6096	RORB	OMIM:618357
HP:0012823	Clinical modifier	112755	STX1B	OMIM:616172
HP:0012823	Clinical modifier	116461	TSEN15	OMIM:617026
HP:0012823	Clinical modifier	51163	DBR1	OMIM:619441
HP:0012823	Clinical modifier	5568	PRKACG	OMIM:616176
HP:0012823	Clinical modifier	23043	TNIK	OMIM:617028
HP:0012823	Clinical modifier	8912	CACNA1H	OMIM:617027
HP:0012823	Clinical modifier	64065	PERP	OMIM:619208
HP:0012823	Clinical modifier	154881	KCTD7	OMIM:611726
HP:0012823	Clinical modifier	57190	SELENON	OMIM:602771
HP:0012823	Clinical modifier	79709	COLGALT1	OMIM:618360
HP:0012823	Clinical modifier	55777	MBD5	OMIM:156200
HP:0012823	Clinical modifier	55250	ELP2	OMIM:617270
HP:0012823	Clinical modifier	51132	RLIM	OMIM:300978
HP:0012823	Clinical modifier	10588	MTHFS	OMIM:618367
HP:0012823	Clinical modifier	51434	ANAPC7	OMIM:619699
HP:0012823	Clinical modifier	537	ATP6AP1	OMIM:300972
HP:0012823	Clinical modifier	24140	FTSJ1	OMIM:309549
HP:0012823	Clinical modifier	7922	SLC39A7	OMIM:619693
HP:0012823	Clinical modifier	6601	SMARCC2	OMIM:618362
HP:0012823	Clinical modifier	4052	LTBP1	OMIM:619451
HP:0012823	Clinical modifier	92255	LMBRD2	OMIM:619694
HP:0012823	Clinical modifier	7468	NSD2	OMIM:619695
HP:0012823	Clinical modifier	8120	AP3B2	OMIM:617276
HP:0012823	Clinical modifier	267010	RNU12	OMIM:620208
HP:0012823	Clinical modifier	3054	HCFC1	OMIM:309541
HP:0012823	Clinical modifier	819	CAMLG	OMIM:620201
HP:0012823	Clinical modifier	4647	MYO7A	OMIM:276900
HP:0012823	Clinical modifier	10083	USH1C	OMIM:276900
HP:0012823	Clinical modifier	51608	GET4	OMIM:620200
HP:0012823	Clinical modifier	549	AUH	OMIM:250950
HP:0012823	Clinical modifier	3735	KARS1	OMIM:613916
HP:0012823	Clinical modifier	56776	FMN2	OMIM:616193
HP:0012823	Clinical modifier	2068	ERCC2	OMIM:601675
HP:0012823	Clinical modifier	2064	ERBB2	OMIM:619465
HP:0012823	Clinical modifier	6390	SDHB	OMIM:619224
HP:0012823	Clinical modifier	84892	POMGNT2	OMIM:618135
HP:0012823	Clinical modifier	55630	SLC39A4	OMIM:201100
HP:0012823	Clinical modifier	254428	SLC41A1	OMIM:619468
HP:0012823	Clinical modifier	9758	FRMPD4	OMIM:300983
HP:0012823	Clinical modifier	7174	TPP2	OMIM:619220
HP:0012823	Clinical modifier	23328	SASH1	OMIM:618373
HP:0012823	Clinical modifier	23328	SASH1	OMIM:127500
HP:0012823	Clinical modifier	146206	CARMIL2	OMIM:618131
HP:0012823	Clinical modifier	4761	NEUROD2	OMIM:618374
HP:0012823	Clinical modifier	3188	HNRNPH2	OMIM:300986
HP:0012823	Clinical modifier	84705	GTPBP3	OMIM:616198
HP:0012823	Clinical modifier	9971	NR1H4	OMIM:617049
HP:0012823	Clinical modifier	208	AKT2	OMIM:240900
HP:0012823	Clinical modifier	59341	TRPV4	OMIM:168400
HP:0012823	Clinical modifier	59341	TRPV4	OMIM:184252
HP:0012823	Clinical modifier	220296	HEPACAM	OMIM:613925
HP:0012823	Clinical modifier	220296	HEPACAM	OMIM:613926
HP:0012823	Clinical modifier	220296	HEPACAM	OMIM:604004
HP:0012823	Clinical modifier	4548	MTR	OMIM:250940
HP:0012823	Clinical modifier	55186	SLC25A36	OMIM:620211
HP:0012823	Clinical modifier	9294	S1PR2	OMIM:610419
HP:0012823	Clinical modifier	83480	PUS3	OMIM:617051
HP:0012823	Clinical modifier	11212	PLPBP	OMIM:617290
HP:0012823	Clinical modifier	57498	KIDINS220	OMIM:617296
HP:0012823	Clinical modifier	54809	SAMD9	OMIM:617053
HP:0012823	Clinical modifier	8991	SELENBP1	OMIM:618148
HP:0012823	Clinical modifier	23316	CUX2	OMIM:618141
HP:0012823	Clinical modifier	570	BAAT	OMIM:619232
HP:0012823	Clinical modifier	94005	PIGS	OMIM:618143
HP:0012823	Clinical modifier	83706	FERMT3	OMIM:612840
HP:0012823	Clinical modifier	8452	CUL3	OMIM:619239
HP:0012823	Clinical modifier	9968	MED12	OMIM:309520
HP:0012823	Clinical modifier	286	ANK1	OMIM:182900
HP:0012823	Clinical modifier	11198	SUPT16H	OMIM:619480
HP:0012823	Clinical modifier	8720	MBTPS1	OMIM:618392
HP:0012823	Clinical modifier	1457	CSNK2A1	OMIM:617062
HP:0012823	Clinical modifier	7204	TRIO	OMIM:617061
HP:0012823	Clinical modifier	7204	TRIO	OMIM:618825
HP:0012823	Clinical modifier	5058	PAK1	OMIM:618158
HP:0012823	Clinical modifier	200931	SLC51A	OMIM:619484
HP:0012823	Clinical modifier	2566	GABRG2	OMIM:618396
HP:0012823	Clinical modifier	1654	DDX3X	OMIM:300958
HP:0012823	Clinical modifier	3419	IDH3A	OMIM:619007
HP:0012823	Clinical modifier	54977	SLC25A38	OMIM:205950
HP:0012823	Clinical modifier	23096	IQSEC2	OMIM:309530
HP:0012823	Clinical modifier	91662	NLRP12	OMIM:611762
HP:0012823	Clinical modifier	1277	COL1A1	OMIM:166200
HP:0012823	Clinical modifier	7284	TUFM	OMIM:610678
HP:0012823	Clinical modifier	2799	GNS	OMIM:252940
HP:0012823	Clinical modifier	10551	AGR2	OMIM:620233
HP:0012823	Clinical modifier	3921	RPSA	OMIM:271400
HP:0012823	Clinical modifier	26278	SACS	OMIM:270550
HP:0012823	Clinical modifier	50964	SOST	OMIM:122860
HP:0012823	Clinical modifier	55599	RNPC3	OMIM:618160
HP:0012823	Clinical modifier	80267	EDEM3	OMIM:619493
HP:0012823	Clinical modifier	5805	PTS	OMIM:261640
HP:0012823	Clinical modifier	84231	TRAF7	OMIM:618164
HP:0012823	Clinical modifier	63899	NSUN3	OMIM:619012
HP:0012823	Clinical modifier	7157	TP53	OMIM:618165
HP:0012823	Clinical modifier	1315	COPB1	OMIM:619255
HP:0012823	Clinical modifier	26276	VPS33B	OMIM:620009
HP:0012823	Clinical modifier	26276	VPS33B	OMIM:620010
HP:0012823	Clinical modifier	8831	SYNGAP1	OMIM:612621
HP:0012823	Clinical modifier	203190	LGI3	OMIM:620007
HP:0012823	Clinical modifier	11043	MID2	OMIM:300928
HP:0012823	Clinical modifier	779	CACNA1S	OMIM:620246
HP:0012823	Clinical modifier	779	CACNA1S	OMIM:170400
HP:0012823	Clinical modifier	11277	TREX1	OMIM:610448
HP:0012823	Clinical modifier	81615	TMEM163	OMIM:620243
HP:0012823	Clinical modifier	84081	NSRP1	OMIM:620001
HP:0012823	Clinical modifier	10079	ATP9A	OMIM:620242
HP:0012823	Clinical modifier	3858	KRT10	OMIM:146600
HP:0012823	Clinical modifier	4644	MYO5A	OMIM:214450
HP:0012823	Clinical modifier	5903	RANBP2	OMIM:608033
HP:0012823	Clinical modifier	2801	GOLGA2	OMIM:620240
HP:0012823	Clinical modifier	6334	SCN8A	OMIM:617080
HP:0012823	Clinical modifier	6334	SCN8A	OMIM:614558
HP:0012823	Clinical modifier	64802	NMNAT1	OMIM:619260
HP:0012823	Clinical modifier	64802	NMNAT1	OMIM:608553
HP:0012823	Clinical modifier	50617	ATP6V0A4	OMIM:602722
HP:0012823	Clinical modifier	2296	FOXC1	OMIM:601631
HP:0012823	Clinical modifier	2629	GBA1	OMIM:230900
HP:0012823	Clinical modifier	64432	MRPS25	OMIM:619025
HP:0012823	Clinical modifier	1893	ECM1	OMIM:247100
HP:0012823	Clinical modifier	84842	HPDL	OMIM:619026
HP:0012823	Clinical modifier	5860	QDPR	OMIM:261630
HP:0012823	Clinical modifier	375056	MIA3	OMIM:619269
HP:0012823	Clinical modifier	56947	MFF	OMIM:617086
HP:0012823	Clinical modifier	118429	ANTXR2	OMIM:228600
HP:0012823	Clinical modifier	1496	CTNNA2	OMIM:618174
HP:0012823	Clinical modifier	83550	GPR101	OMIM:300942
HP:0012823	Clinical modifier	6326	SCN2A	OMIM:613721
HP:0012823	Clinical modifier	6326	SCN2A	OMIM:607745
HP:0012823	Clinical modifier	3785	KCNQ2	OMIM:613720
HP:0012823	Clinical modifier	23236	PLCB1	OMIM:613722
HP:0012823	Clinical modifier	27445	PCLO	OMIM:608027
HP:0012823	Clinical modifier	5256	PHKA2	OMIM:306000
HP:0012823	Clinical modifier	5696	PSMB8	OMIM:256040
HP:0012823	Clinical modifier	6235	RPS29	OMIM:615909
HP:0012823	Clinical modifier	2760	GM2A	OMIM:272750
HP:0012823	Clinical modifier	4693	NDP	OMIM:305390
HP:0012823	Clinical modifier	4693	NDP	OMIM:310600
HP:0012823	Clinical modifier	5138	PDE2A	OMIM:619150
HP:0012823	Clinical modifier	64374	SIL1	OMIM:248800
HP:0012823	Clinical modifier	6535	SLC6A8	OMIM:300352
HP:0012823	Clinical modifier	26960	NBEA	OMIM:619157
HP:0012823	Clinical modifier	1183	CLCN4	OMIM:300114
HP:0012823	Clinical modifier	9722	NOS1AP	OMIM:619155
HP:0012823	Clinical modifier	27178	IL37	OMIM:619398
HP:0012823	Clinical modifier	23241	PACS2	OMIM:618067
HP:0012823	Clinical modifier	80308	FLAD1	OMIM:255100
HP:0012823	Clinical modifier	10312	TCIRG1	OMIM:259700
HP:0012823	Clinical modifier	4598	MVK	OMIM:260920
HP:0012823	Clinical modifier	4598	MVK	OMIM:610377
HP:0012823	Clinical modifier	5009	OTC	OMIM:311250
HP:0012823	Clinical modifier	25821	MTO1	OMIM:614702
HP:0012823	Clinical modifier	781	CACNA2D1	OMIM:620149
HP:0012823	Clinical modifier	6165	RPL35A	OMIM:612528
HP:0012823	Clinical modifier	51343	FZR1	OMIM:620145
HP:0012823	Clinical modifier	10093	ARPC4	OMIM:620141
HP:0012823	Clinical modifier	146167	SLC38A8	OMIM:609218
HP:0012823	Clinical modifier	2623	GATA1	OMIM:300367
HP:0012823	Clinical modifier	2623	GATA1	OMIM:300835
HP:0012823	Clinical modifier	23149	FCHO1	OMIM:619164
HP:0012823	Clinical modifier	51506	UFC1	OMIM:618076
HP:0012823	Clinical modifier	1376	CPT2	OMIM:600649
HP:0012823	Clinical modifier	644096	SDHAF1	OMIM:619166
HP:0012823	Clinical modifier	55788	LMBRD1	OMIM:277380
HP:0012823	Clinical modifier	80055	PGAP1	OMIM:615802
HP:0012823	Clinical modifier	57582	KCNT1	OMIM:614959
HP:0012823	Clinical modifier	10978	CLP1	OMIM:615803
HP:0012823	Clinical modifier	271	AMPD2	OMIM:615809
HP:0012823	Clinical modifier	771	CA12	OMIM:143860
HP:0012823	Clinical modifier	58528	RRAGD	OMIM:620152
HP:0012823	Clinical modifier	6197	RPS6KA3	OMIM:303600
HP:0012823	Clinical modifier	4718	NDUFC2	OMIM:619170
HP:0012823	Clinical modifier	4001	LMNB1	OMIM:619179
HP:0012823	Clinical modifier	8913	CACNA1G	OMIM:618087
HP:0012823	Clinical modifier	3766	KCNJ10	OMIM:612780
HP:0012823	Clinical modifier	64207	IRF2BPL	OMIM:618088
HP:0012823	Clinical modifier	146862	UNC45B	OMIM:619178
HP:0012823	Clinical modifier	1272	CNTN1	OMIM:612540
HP:0012823	Clinical modifier	5119	CHMP1A	OMIM:614961
HP:0012823	Clinical modifier	3988	LIPA	OMIM:278000
HP:0012823	Clinical modifier	966	CD59	OMIM:612300
HP:0012823	Clinical modifier	2538	G6PC1	OMIM:232200
HP:0012823	Clinical modifier	8792	TNFRSF11A	OMIM:612301
HP:0012823	Clinical modifier	3953	LEPR	OMIM:614963
HP:0012823	Clinical modifier	5624	PROC	OMIM:612304
HP:0012823	Clinical modifier	26504	CNNM4	OMIM:217080
HP:0012823	Clinical modifier	3778	KCNMA1	OMIM:609446
HP:0012823	Clinical modifier	3778	KCNMA1	OMIM:618729
HP:0012823	Clinical modifier	3778	KCNMA1	OMIM:617643
HP:0012823	Clinical modifier	23325	WASHC4	OMIM:615817
HP:0012823	Clinical modifier	9570	GOSR2	OMIM:620166
HP:0012823	Clinical modifier	64087	MCCC2	OMIM:210210
HP:0012823	Clinical modifier	54675	CRLS1	OMIM:620167
HP:0012823	Clinical modifier	56984	PSMG2	OMIM:619183
HP:0012823	Clinical modifier	815	CAMK2A	OMIM:618095
HP:0012823	Clinical modifier	815	CAMK2A	OMIM:617798
HP:0012823	Clinical modifier	23116	TOGARAM1	OMIM:619185
HP:0012823	Clinical modifier	64919	BCL11B	OMIM:618092
HP:0012823	Clinical modifier	1591	CYP24A1	OMIM:143880
HP:0012823	Clinical modifier	4915	NTRK2	OMIM:613886
HP:0012823	Clinical modifier	23314	SATB2	OMIM:612313
HP:0012823	Clinical modifier	56922	MCCC1	OMIM:210200
HP:0012823	Clinical modifier	113235	SLC46A1	OMIM:229050
HP:0012823	Clinical modifier	11160	ERLIN2	OMIM:611225
HP:0012823	Clinical modifier	51293	CD320	OMIM:613646
HP:0012823	Clinical modifier	54872	PIGG	OMIM:616917
HP:0012823	Clinical modifier	25942	SIN3A	OMIM:613406
HP:0012823	Clinical modifier	79053	ALG8	OMIM:608104
HP:0012823	Clinical modifier	10522	DEAF1	OMIM:615828
HP:0012823	Clinical modifier	10522	DEAF1	OMIM:617171
HP:0012823	Clinical modifier	57465	TBC1D24	OMIM:608105
HP:0012823	Clinical modifier	57465	TBC1D24	OMIM:605021
HP:0012823	Clinical modifier	57465	TBC1D24	OMIM:615338
HP:0012823	Clinical modifier	113278	SLC52A3	OMIM:211530
HP:0012823	Clinical modifier	30011	SH3KBP1	OMIM:300310
HP:0012823	Clinical modifier	26053	AUTS2	OMIM:615834
HP:0012823	Clinical modifier	10846	PDE10A	OMIM:616921
HP:0012823	Clinical modifier	3588	IL10RB	OMIM:612567
HP:0012823	Clinical modifier	90624	LYRM7	OMIM:615838
HP:0012823	Clinical modifier	1650	DDOST	OMIM:614507
HP:0012823	Clinical modifier	5888	RAD51	OMIM:614508
HP:0012823	Clinical modifier	10056	FARSB	OMIM:613658
HP:0012823	Clinical modifier	3675	ITGA3	OMIM:614748
HP:0012823	Clinical modifier	80025	PANK2	OMIM:234200
HP:0012823	Clinical modifier	55719	SLF2	OMIM:620184
HP:0012823	Clinical modifier	79759	ZNF668	OMIM:620194
HP:0012823	Clinical modifier	283209	PGM2L1	OMIM:620191
HP:0012823	Clinical modifier	1737	DLAT	OMIM:245348
HP:0012823	Clinical modifier	492	ATP2B3	OMIM:302500
HP:0012823	Clinical modifier	3251	HPRT1	OMIM:300322
HP:0012823	Clinical modifier	1785	DNM2	OMIM:160150
HP:0012823	Clinical modifier	64419	MTMR14	OMIM:160150
HP:0012823	Clinical modifier	440138	ALG11	OMIM:613661
HP:0012823	Clinical modifier	23261	CAMTA1	OMIM:614756
HP:0012823	Clinical modifier	56623	INPP5E	OMIM:610156
HP:0012823	Clinical modifier	64135	IFIH1	OMIM:615846
HP:0012823	Clinical modifier	64135	IFIH1	OMIM:619773
HP:0012823	Clinical modifier	64135	IFIH1	OMIM:182250
HP:0012823	Clinical modifier	182	JAG1	OMIM:118450
HP:0012823	Clinical modifier	5340	PLG	OMIM:217090
HP:0012823	Clinical modifier	3708	ITPR1	OMIM:117360
HP:0012823	Clinical modifier	3708	ITPR1	OMIM:206700
HP:0012823	Clinical modifier	10472	ZBTB18	OMIM:612337
HP:0012823	Clinical modifier	9440	MED17	OMIM:613668
HP:0012823	Clinical modifier	917	CD3G	OMIM:615607
HP:0012823	Clinical modifier	1962	EHHADH	OMIM:615605
HP:0012823	Clinical modifier	84946	LTV1	OMIM:620199
HP:0012823	Clinical modifier	286676	ILDR1	OMIM:609646
HP:0012823	Clinical modifier	8813	DPM1	OMIM:608799
HP:0012823	Clinical modifier	554	AVPR2	OMIM:300539
HP:0012823	Clinical modifier	1186	CLCN7	OMIM:611490
HP:0012823	Clinical modifier	55084	SOBP	OMIM:613671
HP:0012823	Clinical modifier	27086	FOXP1	OMIM:613670
HP:0012823	Clinical modifier	919	CD247	OMIM:610163
HP:0012823	Clinical modifier	6929	TCF3	OMIM:616941
HP:0012823	Clinical modifier	6929	TCF3	OMIM:619824
HP:0012823	Clinical modifier	55149	MTPAP	OMIM:613672
HP:0012823	Clinical modifier	55275	VPS53	OMIM:615851
HP:0012823	Clinical modifier	916	CD3E	OMIM:615615
HP:0012823	Clinical modifier	79718	TBL1XR1	OMIM:616944
HP:0012823	Clinical modifier	445	ASS1	OMIM:215700
HP:0012823	Clinical modifier	51322	WAC	OMIM:616708
HP:0012823	Clinical modifier	57679	ALS2	OMIM:607225
HP:0012823	Clinical modifier	915	CD3D	OMIM:615617
HP:0012823	Clinical modifier	85440	DOCK7	OMIM:615859
HP:0012823	Clinical modifier	28962	OSTM1	OMIM:259720
HP:0012823	Clinical modifier	54463	RETREG1	OMIM:201300
HP:0012823	Clinical modifier	65125	WNK1	OMIM:201300
HP:0012823	Clinical modifier	6335	SCN9A	OMIM:201300
HP:0012823	Clinical modifier	547	KIF1A	OMIM:201300
HP:0012823	Clinical modifier	79228	THOC6	OMIM:613680
HP:0012823	Clinical modifier	2033	EP300	OMIM:613684
HP:0012823	Clinical modifier	2033	EP300	OMIM:180849
HP:0012823	Clinical modifier	5962	RDX	OMIM:611022
HP:0012823	Clinical modifier	4208	MEF2C	OMIM:613443
HP:0012823	Clinical modifier	22907	DHX30	OMIM:617804
HP:0012823	Clinical modifier	3679	ITGA7	OMIM:613204
HP:0012823	Clinical modifier	7407	VARS1	OMIM:617802
HP:0012823	Clinical modifier	9894	TELO2	OMIM:616954
HP:0012823	Clinical modifier	196528	ARID2	OMIM:617808
HP:0012823	Clinical modifier	57410	SCYL1	OMIM:616719
HP:0012823	Clinical modifier	9230	RAB11B	OMIM:617807
HP:0012823	Clinical modifier	4976	OPA1	OMIM:210000
HP:0012823	Clinical modifier	55703	POLR3B	OMIM:607694
HP:0012823	Clinical modifier	55703	POLR3B	OMIM:619742
HP:0012823	Clinical modifier	11128	POLR3A	OMIM:607694
HP:0012823	Clinical modifier	8600	TNFSF11	OMIM:259710
HP:0012823	Clinical modifier	10075	HUWE1	OMIM:309590
HP:0012823	Clinical modifier	6323	SCN1A	OMIM:607208
HP:0012823	Clinical modifier	6323	SCN1A	OMIM:619317
HP:0012823	Clinical modifier	348980	HCN1	OMIM:615871
HP:0012823	Clinical modifier	124997	WDR81	OMIM:610185
HP:0012823	Clinical modifier	8733	GPAA1	OMIM:617810
HP:0012823	Clinical modifier	79092	CARD14	OMIM:173200
HP:0012823	Clinical modifier	132	ADK	OMIM:614300
HP:0012823	Clinical modifier	23394	ADNP	OMIM:615873
HP:0012823	Clinical modifier	6513	SLC2A1	OMIM:612126
HP:0012823	Clinical modifier	6513	SLC2A1	OMIM:606777
HP:0012823	Clinical modifier	6513	SLC2A1	OMIM:608885
HP:0012823	Clinical modifier	9414	TJP2	OMIM:615878
HP:0012823	Clinical modifier	6948	TCN2	OMIM:275350
HP:0012823	Clinical modifier	89970	RSPRY1	OMIM:616723
HP:0012823	Clinical modifier	50943	FOXP3	OMIM:304790
HP:0012823	Clinical modifier	8763	CD164	OMIM:616969
HP:0012823	Clinical modifier	79650	USB1	OMIM:604173
HP:0012823	Clinical modifier	2258	FGF13	OMIM:301058
HP:0012823	Clinical modifier	91147	TMEM67	OMIM:216360
HP:0012823	Clinical modifier	9150	CTDP1	OMIM:604168
HP:0012823	Clinical modifier	3718	JAK3	OMIM:600802
HP:0012823	Clinical modifier	3074	HEXB	OMIM:268800
HP:0012823	Clinical modifier	5160	PDHA1	OMIM:312170
HP:0012823	Clinical modifier	473	RERE	OMIM:616975
HP:0012823	Clinical modifier	11151	CORO1A	OMIM:615401
HP:0012823	Clinical modifier	6144	RPL21	OMIM:615885
HP:0012823	Clinical modifier	1806	DPYD	OMIM:274270
HP:0012823	Clinical modifier	4792	NFKBIA	OMIM:612132
HP:0012823	Clinical modifier	2902	GRIN1	OMIM:617820
HP:0012823	Clinical modifier	2902	GRIN1	OMIM:614254
HP:0012823	Clinical modifier	2782	GNB1	OMIM:616973
HP:0012823	Clinical modifier	1545	CYP1B1	OMIM:231300
HP:0012823	Clinical modifier	79644	SRD5A3	OMIM:612379
HP:0012823	Clinical modifier	79644	SRD5A3	OMIM:612713
HP:0012823	Clinical modifier	50	ACO2	OMIM:614559
HP:0012823	Clinical modifier	3097	HIVEP2	OMIM:616977
HP:0012823	Clinical modifier	3176	HNMT	OMIM:616739
HP:0012823	Clinical modifier	84679	SLC9A7	OMIM:301024
HP:0012823	Clinical modifier	5251	PHEX	OMIM:307800
HP:0012823	Clinical modifier	4694	NDUFA1	OMIM:301020
HP:0012823	Clinical modifier	27235	COQ2	OMIM:607426
HP:0012823	Clinical modifier	25953	PNKD	OMIM:118800
HP:0012823	Clinical modifier	23732	FRRS1L	OMIM:616981
HP:0012823	Clinical modifier	54885	TBC1D8B	OMIM:301028
HP:0012823	Clinical modifier	63035	BCORL1	OMIM:301029
HP:0012823	Clinical modifier	7128	TNFAIP3	OMIM:616744
HP:0012823	Clinical modifier	6709	SPTAN1	OMIM:613477
HP:0012823	Clinical modifier	1778	DYNC1H1	OMIM:614563
HP:0012823	Clinical modifier	51741	WWOX	OMIM:614322
HP:0012823	Clinical modifier	51741	WWOX	OMIM:616211
HP:0012823	Clinical modifier	4358	MPV17	OMIM:256810
HP:0012823	Clinical modifier	10616	RBCK1	OMIM:615895
HP:0012823	Clinical modifier	545	ATR	OMIM:614564
HP:0012823	Clinical modifier	6678	SPARC	OMIM:616507
HP:0012823	Clinical modifier	6606	SMN1	OMIM:253300
HP:0012823	Clinical modifier	84693	MCEE	OMIM:251120
HP:0012823	Clinical modifier	51185	CRBN	OMIM:607417
HP:0012823	Clinical modifier	4982	TNFRSF11B	OMIM:239000
HP:0012823	Clinical modifier	6907	TBL1X	OMIM:301033
HP:0012823	Clinical modifier	57165	GJC2	OMIM:613480
HP:0012823	Clinical modifier	57165	GJC2	OMIM:608804
HP:0012823	Clinical modifier	617	BCS1L	OMIM:262000
HP:0012823	Clinical modifier	4891	SLC11A2	OMIM:206100
HP:0012823	Clinical modifier	56479	KCNQ5	OMIM:617601
HP:0012823	Clinical modifier	23152	CIC	OMIM:617600
HP:0012823	Clinical modifier	149461	CLDN19	OMIM:248190
HP:0012823	Clinical modifier	4914	NTRK1	OMIM:256800
HP:0012823	Clinical modifier	25839	COG4	OMIM:613489
HP:0012823	Clinical modifier	667	DST	OMIM:615425
HP:0012823	Clinical modifier	9863	MAGI2	OMIM:617609
HP:0012823	Clinical modifier	401138	AMTN	OMIM:617607
HP:0012823	Clinical modifier	9997	SCO2	OMIM:604377
HP:0012823	Clinical modifier	3887	KRT81	OMIM:158000
HP:0012823	Clinical modifier	3889	KRT83	OMIM:158000
HP:0012823	Clinical modifier	3889	KRT83	OMIM:617756
HP:0012823	Clinical modifier	3892	KRT86	OMIM:158000
HP:0012823	Clinical modifier	7454	WAS	OMIM:301000
HP:0012823	Clinical modifier	11078	TRIOBP	OMIM:609823
HP:0012823	Clinical modifier	930	CD19	OMIM:613493
HP:0012823	Clinical modifier	8270	LAGE3	OMIM:301006
HP:0012823	Clinical modifier	6812	STXBP1	OMIM:612164
HP:0012823	Clinical modifier	55180	LINS1	OMIM:614340
HP:0012823	Clinical modifier	11222	MRPL3	OMIM:614582
HP:0012823	Clinical modifier	8929	PHOX2B	OMIM:209880
HP:0012823	Clinical modifier	81689	ISCA1	OMIM:617613
HP:0012823	Clinical modifier	1213	CLTC	OMIM:617854
HP:0012823	Clinical modifier	2517	FUCA1	OMIM:230000
HP:0012823	Clinical modifier	1859	DYRK1A	OMIM:614104
HP:0012823	Clinical modifier	7249	TSC2	OMIM:613254
HP:0012823	Clinical modifier	7249	TSC2	OMIM:607341
HP:0012823	Clinical modifier	3458	IFNG	OMIM:613254
HP:0012823	Clinical modifier	23040	MYT1L	OMIM:616521
HP:0012823	Clinical modifier	199221	DZIP1L	OMIM:617610
HP:0012823	Clinical modifier	64857	PLEKHG2	OMIM:616763
HP:0012823	Clinical modifier	189	AGXT	OMIM:259900
HP:0012823	Clinical modifier	80232	WDR26	OMIM:617616
HP:0012823	Clinical modifier	4329	ALDH6A1	OMIM:614105
HP:0012823	Clinical modifier	3570	IL6R	OMIM:618944
HP:0012823	Clinical modifier	3575	IL7R	OMIM:608971
HP:0012823	Clinical modifier	4148	MATN3	OMIM:608728
HP:0012823	Clinical modifier	3060	HCRT	OMIM:161400
HP:0012823	Clinical modifier	122553	TRAPPC6B	OMIM:617862
HP:0012823	Clinical modifier	10345	TRDN	OMIM:615441
HP:0012823	Clinical modifier	162514	TRPV3	OMIM:614594
HP:0012823	Clinical modifier	27031	NPHP3	OMIM:208540
HP:0012823	Clinical modifier	60528	ELAC2	OMIM:615440
HP:0012823	Clinical modifier	57688	ZSWIM6	OMIM:617865
HP:0012823	Clinical modifier	51816	ADA2	OMIM:615688
HP:0012823	Clinical modifier	51816	ADA2	OMIM:182410
HP:0012823	Clinical modifier	207	AKT1	OMIM:176920
HP:0012823	Clinical modifier	2893	GRIA4	OMIM:617864
HP:0012823	Clinical modifier	81562	LMAN2L	OMIM:617863
HP:0012823	Clinical modifier	81562	LMAN2L	OMIM:616887
HP:0012823	Clinical modifier	51364	ZMYND10	OMIM:615444
HP:0012823	Clinical modifier	1605	DAG1	OMIM:616538
HP:0012823	Clinical modifier	5261	PHKG2	OMIM:613027
HP:0012823	Clinical modifier	84433	CARD11	OMIM:615206
HP:0012823	Clinical modifier	8292	COLQ	OMIM:603034
HP:0012823	Clinical modifier	113246	C12orf57	OMIM:218340
HP:0012823	Clinical modifier	51	ACOX1	OMIM:264470
HP:0012823	Clinical modifier	5873	RAB27A	OMIM:607624
HP:0012823	Clinical modifier	54888	NSUN2	OMIM:611091
HP:0012823	Clinical modifier	2898	GRIK2	OMIM:611092
HP:0012823	Clinical modifier	54802	TRIT1	OMIM:617873
HP:0012823	Clinical modifier	51081	MRPS7	OMIM:617872
HP:0012823	Clinical modifier	10020	GNE	OMIM:269921
HP:0012823	Clinical modifier	1537	CYC1	OMIM:615453
HP:0012823	Clinical modifier	9731	CEP104	OMIM:616781
HP:0012823	Clinical modifier	9731	CEP104	OMIM:619988
HP:0012823	Clinical modifier	5295	PIK3R1	OMIM:615214
HP:0012823	Clinical modifier	5295	PIK3R1	OMIM:616005
HP:0012823	Clinical modifier	10274	STAG1	OMIM:617635
HP:0012823	Clinical modifier	4724	NDUFS4	OMIM:252010
HP:0012823	Clinical modifier	5449	POU1F1	OMIM:613038
HP:0012823	Clinical modifier	23389	MED13L	OMIM:616789
HP:0012823	Clinical modifier	84059	ADGRV1	OMIM:604352
HP:0012823	Clinical modifier	8139	GAN	OMIM:256850
HP:0012823	Clinical modifier	55553	SOX6	OMIM:618971
HP:0012823	Clinical modifier	51075	TMX2	OMIM:618730
HP:0012823	Clinical modifier	8884	SLC5A6	OMIM:618973
HP:0012823	Clinical modifier	115286	SLC25A26	OMIM:616794
HP:0012823	Clinical modifier	80169	CTC1	OMIM:612199
HP:0012823	Clinical modifier	51763	INPP5K	OMIM:617404
HP:0012823	Clinical modifier	721	C4B	OMIM:614379
HP:0012823	Clinical modifier	10892	MALT1	OMIM:615468
HP:0012823	Clinical modifier	10844	TUBGCP2	OMIM:618737
HP:0012823	Clinical modifier	55367	PIDD1	OMIM:619827
HP:0012823	Clinical modifier	109	ADCY3	OMIM:617885
HP:0012823	Clinical modifier	7252	TSHB	OMIM:275100
HP:0012823	Clinical modifier	2778	GNAS	OMIM:103580
HP:0012823	Clinical modifier	2778	GNAS	OMIM:166350
HP:0012823	Clinical modifier	2746	GLUD1	OMIM:606762
HP:0012823	Clinical modifier	1497	CTNS	OMIM:219800
HP:0012823	Clinical modifier	3551	IKBKB	OMIM:615592
HP:0012823	Clinical modifier	29925	GMPPB	OMIM:615350
HP:0012823	Clinical modifier	29925	GMPPB	OMIM:615351
HP:0012823	Clinical modifier	8367	H4C5	OMIM:619950
HP:0012823	Clinical modifier	8294	H4C9	OMIM:619951
HP:0012823	Clinical modifier	5728	PTEN	OMIM:605309
HP:0012823	Clinical modifier	9853	RUSC2	OMIM:617773
HP:0012823	Clinical modifier	9860	LRIG2	OMIM:615112
HP:0012823	Clinical modifier	5723	PSPH	OMIM:614023
HP:0012823	Clinical modifier	9524	TECR	OMIM:614020
HP:0012823	Clinical modifier	343450	KCNT2	OMIM:617771
HP:0012823	Clinical modifier	2132	EXT2	OMIM:616682
HP:0012823	Clinical modifier	2132	EXT2	OMIM:133701
HP:0012823	Clinical modifier	6873	TAF2	OMIM:615599
HP:0012823	Clinical modifier	3783	KCNN4	OMIM:616689
HP:0012823	Clinical modifier	2895	GRID2	OMIM:616204
HP:0012823	Clinical modifier	84818	IL17RC	OMIM:616445
HP:0012823	Clinical modifier	51126	NAA20	OMIM:619717
HP:0012823	Clinical modifier	2972	BRF1	OMIM:616202
HP:0012823	Clinical modifier	8710	SERPINB7	OMIM:615598
HP:0012823	Clinical modifier	4860	PNP	OMIM:613179
HP:0012823	Clinical modifier	1355	COX15	OMIM:615119
HP:0012823	Clinical modifier	81857	MED25	OMIM:616449
HP:0012823	Clinical modifier	4254	KITLG	OMIM:145250
HP:0012823	Clinical modifier	755	CFAP410	OMIM:602271
HP:0012823	Clinical modifier	84942	WDR73	OMIM:251300
HP:0012823	Clinical modifier	7259	TSPYL1	OMIM:608800
HP:0012823	Clinical modifier	4522	MTHFD1	OMIM:617780
HP:0012823	Clinical modifier	3021	H3-3B	OMIM:619721
HP:0012823	Clinical modifier	1630	DCC	OMIM:617542
HP:0012823	Clinical modifier	1630	DCC	OMIM:157600
HP:0012823	Clinical modifier	10026	PIGK	OMIM:618879
HP:0012823	Clinical modifier	51111	KMT5B	OMIM:617788
HP:0012823	Clinical modifier	790	CAD	OMIM:616457
HP:0012823	Clinical modifier	1106	CHD2	OMIM:615369
HP:0012823	Clinical modifier	2670	GFAP	OMIM:203450
HP:0012823	Clinical modifier	65082	VPS33A	OMIM:617303
HP:0012823	Clinical modifier	526	ATP6V1B2	OMIM:616455
HP:0012823	Clinical modifier	10730	YME1L1	OMIM:617302
HP:0012823	Clinical modifier	10565	ARFGEF1	OMIM:619964
HP:0012823	Clinical modifier	8309	ACOX2	OMIM:617308
HP:0012823	Clinical modifier	5610	EIF2AK2	OMIM:618877
HP:0012823	Clinical modifier	57156	TMEM63C	OMIM:619966
HP:0012823	Clinical modifier	51473	DCDC2	OMIM:616217
HP:0012823	Clinical modifier	51473	DCDC2	OMIM:617394
HP:0012823	Clinical modifier	27102	EIF2AK1	OMIM:618878
HP:0012823	Clinical modifier	3781	KCNN2	OMIM:619725
HP:0012823	Clinical modifier	120227	CYP2R1	OMIM:600081
HP:0012823	Clinical modifier	5189	PEX1	OMIM:214100
HP:0012823	Clinical modifier	5189	PEX1	OMIM:234580
HP:0012823	Clinical modifier	140803	TRPM6	OMIM:602014
HP:0012823	Clinical modifier	10559	SLC35A1	OMIM:603585
HP:0012823	Clinical modifier	83696	TRAPPC9	OMIM:613192
HP:0012823	Clinical modifier	535	ATP6V0A1	OMIM:619971
HP:0012823	Clinical modifier	535	ATP6V0A1	OMIM:619970
HP:0012823	Clinical modifier	60561	RINT1	OMIM:618641
HP:0012823	Clinical modifier	129685	TAF8	OMIM:619972
HP:0012823	Clinical modifier	55870	ASH1L	OMIM:617796
HP:0012823	Clinical modifier	286204	CRB2	OMIM:616220
HP:0012823	Clinical modifier	816	CAMK2B	OMIM:617799
HP:0012823	Clinical modifier	51319	RSRC1	OMIM:618402
HP:0012823	Clinical modifier	7920	ABHD16A	OMIM:619735
HP:0012823	Clinical modifier	85365	ALG2	OMIM:616228
HP:0012823	Clinical modifier	85365	ALG2	OMIM:607906
HP:0012823	Clinical modifier	4323	MMP14	OMIM:277950
HP:0012823	Clinical modifier	1834	DSPP	OMIM:125420
HP:0012823	Clinical modifier	10715	CERS1	OMIM:616230
HP:0012823	Clinical modifier	203286	ANKS6	OMIM:615382
HP:0012823	Clinical modifier	84504	NKX6-2	OMIM:617560
HP:0012823	Clinical modifier	2688	GH1	OMIM:262400
HP:0012823	Clinical modifier	283987	HID1	OMIM:619983
HP:0012823	Clinical modifier	1303	COL12A1	OMIM:616470
HP:0012823	Clinical modifier	6712	SPTBN2	OMIM:615386
HP:0012823	Clinical modifier	6712	SPTBN2	OMIM:600224
HP:0012823	Clinical modifier	4174	MCM5	OMIM:617564
HP:0012823	Clinical modifier	28755	TRAC	OMIM:615387
HP:0012823	Clinical modifier	57178	ZMIZ1	OMIM:618659
HP:0012823	Clinical modifier	388962	BOLA3	OMIM:614299
HP:0012823	Clinical modifier	2783	GNB2	OMIM:619503
HP:0012823	Clinical modifier	200734	SPRED2	OMIM:619745
HP:0012823	Clinical modifier	79731	NARS2	OMIM:616239
HP:0012823	Clinical modifier	55623	THUMPD1	OMIM:619989
HP:0012823	Clinical modifier	284439	SLC25A42	OMIM:618416
HP:0012823	Clinical modifier	112476	PRRT2	OMIM:605751
HP:0012823	Clinical modifier	9927	MFN2	OMIM:601152
HP:0012823	Clinical modifier	610	HCN2	OMIM:602477
HP:0012823	Clinical modifier	51594	NBAS	OMIM:616483
HP:0012823	Clinical modifier	253738	EBF3	OMIM:617330
HP:0012823	Clinical modifier	10043	TOM1	OMIM:619510
HP:0012823	Clinical modifier	3572	IL6ST	OMIM:619752
HP:0012823	Clinical modifier	3572	IL6ST	OMIM:619750
HP:0012823	Clinical modifier	56006	SMG9	OMIM:619995
HP:0012823	Clinical modifier	85301	COL27A1	OMIM:615155
HP:0012823	Clinical modifier	8879	SGPL1	OMIM:617575
HP:0012823	Clinical modifier	142680	SLC34A3	OMIM:241530
HP:0012823	Clinical modifier	65080	MRPL44	OMIM:615395
HP:0012823	Clinical modifier	54914	FOCAD	OMIM:619991
HP:0012823	Clinical modifier	27089	UQCRQ	OMIM:615159
HP:0012823	Clinical modifier	1182	CLCN3	OMIM:619517
HP:0012823	Clinical modifier	55699	IARS2	OMIM:616007
HP:0012823	Clinical modifier	801	CALM1	OMIM:616247
HP:0012823	Clinical modifier	6023	RMRP	OMIM:250250
HP:0012823	Clinical modifier	7381	UQCRB	OMIM:615158
HP:0012823	Clinical modifier	59335	PRDM12	OMIM:616488
HP:0012823	Clinical modifier	7701	ZNF142	OMIM:618425
HP:0012823	Clinical modifier	2643	GCH1	OMIM:233910
HP:0012823	Clinical modifier	4191	MDH2	OMIM:617339
HP:0012823	Clinical modifier	8517	IKBKG	OMIM:301081
HP:0012823	Clinical modifier	8517	IKBKG	OMIM:300636
HP:0012823	Clinical modifier	23474	ETHE1	OMIM:602473
HP:0012823	Clinical modifier	166785	MMAA	OMIM:251100
HP:0012823	Clinical modifier	5551	PRF1	OMIM:603553
HP:0012823	Clinical modifier	8676	STX11	OMIM:603552
HP:0012823	Clinical modifier	9533	POLR1C	OMIM:616494
HP:0012823	Clinical modifier	11234	HPS5	OMIM:614074
HP:0012823	Clinical modifier	10021	HCN4	OMIM:619521
HP:0012823	Clinical modifier	7750	ZMYM2	OMIM:619522
HP:0012823	Clinical modifier	5971	RELB	OMIM:617585
HP:0012823	Clinical modifier	9474	ATG5	OMIM:617584
HP:0012823	Clinical modifier	4849	CNOT3	OMIM:618672
HP:0012823	Clinical modifier	59336	PRDM13	OMIM:619761
HP:0012823	Clinical modifier	6942	TCF20	OMIM:618430
HP:0012823	Clinical modifier	773	CACNA1A	OMIM:617106
HP:0012823	Clinical modifier	6121	RPE65	OMIM:204100
HP:0012823	Clinical modifier	6506	SLC1A2	OMIM:617105
HP:0012823	Clinical modifier	10297	APC2	OMIM:618677
HP:0012823	Clinical modifier	10297	APC2	OMIM:617169
HP:0012823	Clinical modifier	9338	TCEAL1	OMIM:301094
HP:0012823	Clinical modifier	57724	EPG5	OMIM:242840
HP:0012823	Clinical modifier	51651	PTRH2	OMIM:616263
HP:0012823	Clinical modifier	23162	MAPK8IP3	OMIM:618443
HP:0012823	Clinical modifier	3978	LIG1	OMIM:619774
HP:0012823	Clinical modifier	55120	FANCL	OMIM:614083
HP:0012823	Clinical modifier	79989	IFT56	OMIM:619534
HP:0012823	Clinical modifier	9319	TRIP13	OMIM:617598
HP:0012823	Clinical modifier	284098	PIGW	OMIM:616025
HP:0012823	Clinical modifier	2562	GABRB3	OMIM:617113
HP:0012823	Clinical modifier	10463	SLC30A9	OMIM:617595
HP:0012823	Clinical modifier	84522	JAGN1	OMIM:616022
HP:0012823	Clinical modifier	79977	GRHL2	OMIM:616029
HP:0012823	Clinical modifier	388662	SLC6A17	OMIM:616269
HP:0012823	Clinical modifier	2678	GGT1	OMIM:231950
HP:0012823	Clinical modifier	51227	PIGP	OMIM:617599
HP:0012823	Clinical modifier	5271	SERPINB8	OMIM:617115
HP:0012823	Clinical modifier	1107	CHD3	OMIM:618205
HP:0012823	Clinical modifier	51196	PLCE1	OMIM:610725
HP:0012823	Clinical modifier	387733	IFITM5	OMIM:610967
HP:0012823	Clinical modifier	64421	DCLRE1C	OMIM:602450
HP:0012823	Clinical modifier	60681	FKBP10	OMIM:610968
HP:0012823	Clinical modifier	57192	MCOLN1	OMIM:252650
HP:0012823	Clinical modifier	3756	KCNH1	OMIM:611816
HP:0012823	Clinical modifier	51311	TLR8	OMIM:301078
HP:0012823	Clinical modifier	79628	SH3TC2	OMIM:601596
HP:0012823	Clinical modifier	258	AMBN	OMIM:616270
HP:0012823	Clinical modifier	2000	ELF4	OMIM:301074
HP:0012823	Clinical modifier	3730	ANOS1	OMIM:308700
HP:0012823	Clinical modifier	148789	B3GALNT2	OMIM:615181
HP:0012823	Clinical modifier	81704	DOCK8	OMIM:243700
HP:0012823	Clinical modifier	27247	NFU1	OMIM:605711
HP:0012823	Clinical modifier	27077	B9D1	OMIM:617120
HP:0012823	Clinical modifier	5825	ABCD3	OMIM:616278
HP:0012823	Clinical modifier	133686	NADK2	OMIM:616034
HP:0012823	Clinical modifier	3658	IREB2	OMIM:618451
HP:0012823	Clinical modifier	55770	EXOC2	OMIM:619306
HP:0012823	Clinical modifier	6857	SYT1	OMIM:618218
HP:0012823	Clinical modifier	5277	PIGA	OMIM:301072
HP:0012823	Clinical modifier	8905	AP1S2	OMIM:304340
HP:0012823	Clinical modifier	10456	HAX1	OMIM:610738
HP:0012823	Clinical modifier	6927	HNF1A	OMIM:600496
HP:0012823	Clinical modifier	84706	GPT2	OMIM:616281
HP:0012823	Clinical modifier	79876	UBA5	OMIM:617132
HP:0012823	Clinical modifier	9759	HDAC4	OMIM:619797
HP:0012823	Clinical modifier	4723	NDUFV1	OMIM:618225
HP:0012823	Clinical modifier	30000	TNPO2	OMIM:619556
HP:0012823	Clinical modifier	79705	LRRK1	OMIM:615198
HP:0012823	Clinical modifier	51728	POLR3K	OMIM:619310
HP:0012823	Clinical modifier	4719	NDUFS1	OMIM:618226
HP:0012823	Clinical modifier	55628	ZNF407	OMIM:619557
HP:0012823	Clinical modifier	4720	NDUFS2	OMIM:618228
HP:0012823	Clinical modifier	4729	NDUFV2	OMIM:618229
HP:0012823	Clinical modifier	3426	CFI	OMIM:610984
HP:0012823	Clinical modifier	718	C3	OMIM:612925
HP:0012823	Clinical modifier	718	C3	OMIM:613779
HP:0012823	Clinical modifier	51412	ACTL6B	OMIM:618470
HP:0012823	Clinical modifier	1536	CYBB	OMIM:300645
HP:0012823	Clinical modifier	60482	SLC5A7	OMIM:617143
HP:0012823	Clinical modifier	831	CAST	OMIM:616295
HP:0012823	Clinical modifier	6514	SLC2A2	OMIM:227810
HP:0012823	Clinical modifier	51103	NDUFAF1	OMIM:618234
HP:0012823	Clinical modifier	3714	JAG2	OMIM:619566
HP:0012823	Clinical modifier	4695	NDUFA2	OMIM:618235
HP:0012823	Clinical modifier	3561	IL2RG	OMIM:300400
HP:0012823	Clinical modifier	79868	ALG13	OMIM:300884
HP:0012823	Clinical modifier	6651	SON	OMIM:617140
HP:0012823	Clinical modifier	8867	SYNJ1	OMIM:617389
HP:0012823	Clinical modifier	51601	LIPT1	OMIM:616299
HP:0012823	Clinical modifier	10659	CELF2	OMIM:619561
HP:0012823	Clinical modifier	22861	NLRP1	OMIM:617388
HP:0012823	Clinical modifier	23030	KDM4B	OMIM:619320
HP:0012823	Clinical modifier	3745	KCNB1	OMIM:616056
HP:0012823	Clinical modifier	137682	NDUFAF6	OMIM:618239
HP:0012823	Clinical modifier	5010	CLDN11	OMIM:619328
HP:0012823	Clinical modifier	9622	KLK4	OMIM:204700
HP:0012823	Clinical modifier	1130	LYST	OMIM:214500
HP:0012823	Clinical modifier	2067	ERCC1	OMIM:610758
HP:0012823	Clinical modifier	79944	L2HGDH	OMIM:236792
HP:0012823	Clinical modifier	8869	ST3GAL5	OMIM:609056
HP:0012823	Clinical modifier	10166	SLC25A15	OMIM:238970
HP:0012823	Clinical modifier	1725	DHPS	OMIM:618480
HP:0012823	Clinical modifier	3192	HNRNPU	OMIM:617391
HP:0012823	Clinical modifier	55967	NDUFA12	OMIM:618244
HP:0012823	Clinical modifier	25929	GEMIN5	OMIM:619333
HP:0012823	Clinical modifier	4715	NDUFB9	OMIM:618245
HP:0012823	Clinical modifier	56915	EXOSC5	OMIM:619576
HP:0012823	Clinical modifier	22796	COG2	OMIM:617395
HP:0012823	Clinical modifier	2560	GABRB1	OMIM:617153
HP:0012823	Clinical modifier	23221	RHOBTB2	OMIM:618004
HP:0012823	Clinical modifier	112939	NACC1	OMIM:617393
HP:0012823	Clinical modifier	25915	NDUFAF3	OMIM:618240
HP:0012823	Clinical modifier	2707	GJB3	OMIM:133200
HP:0012823	Clinical modifier	50619	DEF6	OMIM:619573
HP:0012823	Clinical modifier	165	AEBP1	OMIM:618000
HP:0012823	Clinical modifier	3394	IRF8	OMIM:226990
HP:0012823	Clinical modifier	4705	NDUFA10	OMIM:618243
HP:0012823	Clinical modifier	23229	ARHGEF9	OMIM:300607
HP:0012823	Clinical modifier	123263	MTFMT	OMIM:618248
HP:0012823	Clinical modifier	7965	AIMP2	OMIM:618006
HP:0012823	Clinical modifier	51079	NDUFA13	OMIM:618249
HP:0012823	Clinical modifier	84188	FAR1	OMIM:619338
HP:0012823	Clinical modifier	10157	AASS	OMIM:238700
HP:0012823	Clinical modifier	23203	PMPCA	OMIM:213200
HP:0012823	Clinical modifier	22845	DOLK	OMIM:610768
HP:0012823	Clinical modifier	55750	AGK	OMIM:212350
HP:0012823	Clinical modifier	8604	SLC25A12	OMIM:612949
HP:0012823	Clinical modifier	3158	HMGCS2	OMIM:605911
HP:0012823	Clinical modifier	80324	PUS1	OMIM:600462
HP:0012823	Clinical modifier	1781	DYNC1I2	OMIM:618492
HP:0012823	Clinical modifier	7319	UBE2A	OMIM:300860
HP:0012823	Clinical modifier	9509	ADAMTS2	OMIM:225410
HP:0012823	Clinical modifier	774	CACNA1B	OMIM:618497
HP:0012823	Clinical modifier	26175	LYSET	OMIM:619345
HP:0012823	Clinical modifier	10845	CLPX	OMIM:618015
HP:0012823	Clinical modifier	23522	KAT6B	OMIM:603736
HP:0012823	Clinical modifier	2906	GRIN2D	OMIM:617162
HP:0012823	Clinical modifier	9451	EIF2AK3	OMIM:226980
HP:0012823	Clinical modifier	51300	TIMMDC1	OMIM:618251
HP:0012823	Clinical modifier	54681	P4HTM	OMIM:618493
HP:0012823	Clinical modifier	4714	NDUFB8	OMIM:618252
HP:0012823	Clinical modifier	4126	MANBA	OMIM:248510
HP:0012823	Clinical modifier	4700	NDUFA6	OMIM:618253
HP:0012823	Clinical modifier	26040	SETBP1	OMIM:616078
HP:0012823	Clinical modifier	3560	IL2RB	OMIM:618495
HP:0012823	Clinical modifier	523	ATP6V1A	OMIM:618012
HP:0012823	Clinical modifier	2257	FGF12	OMIM:617166
HP:0012823	Clinical modifier	8635	RNASET2	OMIM:612951
HP:0012823	Clinical modifier	25939	SAMHD1	OMIM:612952
HP:0012823	Clinical modifier	25939	SAMHD1	OMIM:614415
HP:0012823	Clinical modifier	412	STS	OMIM:308100
HP:0012823	Clinical modifier	84701	COX4I2	OMIM:612714
HP:0012823	Clinical modifier	6697	SPR	OMIM:612716
HP:0012823	Clinical modifier	339829	CCDC39	OMIM:613807
HP:0012823	Clinical modifier	2628	GATM	OMIM:612718
HP:0012823	Clinical modifier	10771	ZMYND11	OMIM:616083
HP:0012823	Clinical modifier	11340	EXOSC8	OMIM:616081
HP:0012823	Clinical modifier	23322	RPGRIP1L	OMIM:619113
HP:0012823	Clinical modifier	37	ACADVL	OMIM:201475
HP:0012823	Clinical modifier	65018	PINK1	OMIM:605909
HP:0012823	Clinical modifier	139411	PTCHD1	OMIM:300830
HP:0012823	Clinical modifier	5977	DPF2	OMIM:618027
HP:0012823	Clinical modifier	51095	TRNT1	OMIM:616084
HP:0012823	Clinical modifier	10681	GNB5	OMIM:617173
HP:0012823	Clinical modifier	10681	GNB5	OMIM:617182
HP:0012823	Clinical modifier	35	ACADS	OMIM:201470
HP:0012823	Clinical modifier	10847	SRCAP	OMIM:619595
HP:0012823	Clinical modifier	10847	SRCAP	OMIM:136140
HP:0012823	Clinical modifier	1387	CREBBP	OMIM:180849
HP:0012823	Clinical modifier	3839	KPNA3	OMIM:620106
HP:0012823	Clinical modifier	51091	SEPSECS	OMIM:613811
HP:0012823	Clinical modifier	538	ATP7A	OMIM:309400
HP:0012823	Clinical modifier	84197	POMK	OMIM:616094
HP:0012823	Clinical modifier	55210	ATAD3A	OMIM:617183
HP:0012823	Clinical modifier	2571	GAD1	OMIM:619124
HP:0012823	Clinical modifier	8915	BCL10	OMIM:616098
HP:0012823	Clinical modifier	90522	YIF1B	OMIM:619125
HP:0012823	Clinical modifier	128240	NAXE	OMIM:617186
HP:0012823	Clinical modifier	54790	TET2	OMIM:619126
HP:0012823	Clinical modifier	10651	MTX2	OMIM:619127
HP:0012823	Clinical modifier	285	ANGPT2	OMIM:619369
HP:0012823	Clinical modifier	6566	SLC16A1	OMIM:616095
HP:0012823	Clinical modifier	22983	MAST1	OMIM:618273
HP:0012823	Clinical modifier	23287	AGTPBP1	OMIM:618276
HP:0012823	Clinical modifier	79143	MBOAT7	OMIM:617188
HP:0012823	Clinical modifier	226	ALDOA	OMIM:611881
HP:0012823	Clinical modifier	23031	MAST3	OMIM:620115
HP:0012823	Clinical modifier	498	ATP5F1A	OMIM:620358
HP:0012823	Clinical modifier	3030	HADHA	OMIM:609015
HP:0012823	Clinical modifier	2593	GAMT	OMIM:612736
HP:0012823	Clinical modifier	4322	MMP13	OMIM:250400
HP:0012823	Clinical modifier	1406	CRX	OMIM:613829
HP:0012823	Clinical modifier	6123	RPL3L	OMIM:619371
HP:0012823	Clinical modifier	6904	TBCD	OMIM:617193
HP:0012823	Clinical modifier	6571	SLC18A2	OMIM:618049
HP:0012823	Clinical modifier	11014	KDELR2	OMIM:619131
HP:0012823	Clinical modifier	23154	NCDN	OMIM:619373
HP:0012823	Clinical modifier	4938	OAS1	OMIM:618042
HP:0012823	Clinical modifier	57152	SLURP1	OMIM:248300
HP:0012823	Clinical modifier	100	ADA	OMIM:102700
HP:0012823	Clinical modifier	4668	NAGA	OMIM:609241
HP:0012823	Clinical modifier	9487	PIGL	OMIM:280000
HP:0012823	Clinical modifier	23418	CRB1	OMIM:613835
HP:0012823	Clinical modifier	124454	EARS2	OMIM:614924
HP:0012823	Clinical modifier	1795	DOCK3	OMIM:618292
HP:0012823	Clinical modifier	11011	TLK2	OMIM:618050
HP:0012823	Clinical modifier	6850	SYK	OMIM:619381
HP:0012823	Clinical modifier	57538	ALPK3	OMIM:618052
HP:0012823	Clinical modifier	5257	PHKB	OMIM:261750
HP:0012823	Clinical modifier	1604	CD55	OMIM:226300
HP:0012823	Clinical modifier	27072	VPS41	OMIM:619389
HP:0012823	Clinical modifier	27161	AGO2	OMIM:619149
HP:0012823	Clinical modifier	8665	EIF3F	OMIM:618295
HP:0012823	Clinical modifier	221927	BRAT1	OMIM:618056
HP:0012823	Clinical modifier	221927	BRAT1	OMIM:614498
HP:0012823	Clinical modifier	9131	AIFM1	OMIM:300816
HP:0012823	Clinical modifier	87178	PNPT1	OMIM:614932
HP:0012823	Clinical modifier	10535	RNASEH2A	OMIM:610333
HP:0012823	Clinical modifier	7287	TULP1	OMIM:613843
HP:0012823	Clinical modifier	90523	MLIP	OMIM:620138
HP:0012823	Clinical modifier	9935	MAFB	OMIM:166300
HP:0012823	Clinical modifier	54938	SARS2	OMIM:613845
HP:0012823	Clinical modifier	64858	DCLRE1B	OMIM:620133
HP:0012823	Clinical modifier	26275	HIBCH	OMIM:250620
HP:0012823	Clinical modifier	121340	SP7	OMIM:613849
HP:0012823	Clinical modifier	114548	NLRP3	OMIM:120100
HP:0012823	Clinical modifier	114548	NLRP3	OMIM:607115
HP:0012823	Clinical modifier	1534	CYB561	OMIM:618182
HP:0012823	Clinical modifier	4702	NDUFA8	OMIM:619272
HP:0012823	Clinical modifier	199857	ALG14	OMIM:619031
HP:0012823	Clinical modifier	84189	SLITRK6	OMIM:221200
HP:0012823	Clinical modifier	10128	LRPPRC	OMIM:220111
HP:0012823	Clinical modifier	2077	ERF	OMIM:600775
HP:0012823	Clinical modifier	10134	BCAP31	OMIM:300475
HP:0012823	Clinical modifier	158	ADSL	OMIM:103050
HP:0012823	Clinical modifier	79717	PPCS	OMIM:618189
HP:0012823	Clinical modifier	81555	YIPF5	OMIM:619278
HP:0012823	Clinical modifier	90268	OTULIN	OMIM:617099
HP:0012823	Clinical modifier	4574	MT-TS1	OMIM:220110
HP:0012823	Clinical modifier	4570	MT-TN	OMIM:220110
HP:0012823	Clinical modifier	6834	SURF1	OMIM:220110
HP:0012823	Clinical modifier	80821	DDHD1	OMIM:609340
HP:0012823	Clinical modifier	775	CACNA1C	OMIM:620029
HP:0012823	Clinical modifier	347734	SLC35B2	OMIM:620269
HP:0012823	Clinical modifier	55325	UFSP2	OMIM:620028
HP:0012823	Clinical modifier	55325	UFSP2	OMIM:617974
HP:0012823	Clinical modifier	4774	NFIA	OMIM:613735
HP:0012823	Clinical modifier	1119	CHKA	OMIM:620023
HP:0012823	Clinical modifier	5111	PCNA	OMIM:615919
HP:0012823	Clinical modifier	118987	PDZD8	OMIM:620021
HP:0012823	Clinical modifier	57176	VARS2	OMIM:615917
HP:0012823	Clinical modifier	80222	TARS2	OMIM:615918
HP:0012823	Clinical modifier	5293	PIK3CD	OMIM:619281
HP:0012823	Clinical modifier	3073	HEXA	OMIM:272800
HP:0012823	Clinical modifier	6840	SVIL	OMIM:619040
HP:0012823	Clinical modifier	2617	GARS1	OMIM:619042
HP:0012823	Clinical modifier	4983	OPHN1	OMIM:300486
HP:0012823	Clinical modifier	2050	EPHB4	OMIM:618196
HP:0012823	Clinical modifier	6576	SLC25A1	OMIM:618197
HP:0012823	Clinical modifier	1352	COX10	OMIM:619046
HP:0012823	Clinical modifier	973	CD79A	OMIM:613501
HP:0012823	Clinical modifier	3543	IGLL1	OMIM:613500
HP:0012823	Clinical modifier	2911	GRM1	OMIM:614831
HP:0012823	Clinical modifier	6507	SLC1A3	OMIM:612656
HP:0012823	Clinical modifier	29760	BLNK	OMIM:613502
HP:0012823	Clinical modifier	63908	NAPB	OMIM:620033
HP:0012823	Clinical modifier	7298	TYMS	OMIM:620040
HP:0012823	Clinical modifier	8647	ABCB11	OMIM:601847
HP:0012823	Clinical modifier	2892	GRIA3	OMIM:300699
HP:0012823	Clinical modifier	100131801	PET100	OMIM:619055
HP:0012823	Clinical modifier	9739	SETD1A	OMIM:619056
HP:0012823	Clinical modifier	191	AHCY	OMIM:613752
HP:0012823	Clinical modifier	6499	SKIC2	OMIM:614602
HP:0012823	Clinical modifier	686	BTD	OMIM:253260
HP:0012823	Clinical modifier	340061	STING1	OMIM:615934
HP:0012823	Clinical modifier	36	ACADSB	OMIM:610006
HP:0012823	Clinical modifier	256297	PTF1A	OMIM:615935
HP:0012823	Clinical modifier	5896	RAG1	OMIM:233650
HP:0012823	Clinical modifier	5897	RAG2	OMIM:233650
HP:0012823	Clinical modifier	10716	TBR1	OMIM:606053
HP:0012823	Clinical modifier	1854	DUT	OMIM:620044
HP:0012823	Clinical modifier	79087	ALG12	OMIM:607143
HP:0012823	Clinical modifier	1339	COX6A2	OMIM:619062
HP:0012823	Clinical modifier	8802	SUCLG1	OMIM:245400
HP:0012823	Clinical modifier	9377	COX5A	OMIM:619064
HP:0012823	Clinical modifier	4591	TRIM37	OMIM:253250
HP:0012823	Clinical modifier	124512	METTL23	OMIM:615942
HP:0012823	Clinical modifier	10382	TUBB4A	OMIM:612438
HP:0012823	Clinical modifier	2214	FCGR3A	OMIM:615707
HP:0012823	Clinical modifier	65250	CPLANE1	OMIM:614615
HP:0012823	Clinical modifier	79443	FYCO1	OMIM:610019
HP:0012823	Clinical modifier	1991	ELANE	OMIM:202700
HP:0012823	Clinical modifier	2984	GUCY2C	OMIM:614616
HP:0012823	Clinical modifier	9711	RUBCN	OMIM:615705
HP:0012823	Clinical modifier	7915	ALDH5A1	OMIM:271980
HP:0012823	Clinical modifier	23265	EXOC7	OMIM:619072
HP:0012823	Clinical modifier	1802	DPH2	OMIM:620062
HP:0012823	Clinical modifier	443	ASPA	OMIM:271900
HP:0012823	Clinical modifier	6792	CDKL5	OMIM:300672
HP:0012823	Clinical modifier	5091	PC	OMIM:266150
HP:0012823	Clinical modifier	3028	HSD17B10	OMIM:300438
HP:0012823	Clinical modifier	3852	KRT5	OMIM:131960
HP:0012823	Clinical modifier	2677	GGCX	OMIM:277450
HP:0012823	Clinical modifier	6774	STAT3	OMIM:615952
HP:0012823	Clinical modifier	6774	STAT3	OMIM:147060
HP:0012823	Clinical modifier	9255	AIMP1	OMIM:260600
HP:0012823	Clinical modifier	5828	PEX2	OMIM:614867
HP:0012823	Clinical modifier	2073	ERCC5	OMIM:278780
HP:0012823	Clinical modifier	10290	SPEG	OMIM:615959
HP:0012823	Clinical modifier	5978	REST	OMIM:616806
HP:0012823	Clinical modifier	93210	PGAP3	OMIM:615716
HP:0012823	Clinical modifier	9990	SLC12A6	OMIM:620068
HP:0012823	Clinical modifier	64837	KLC2	OMIM:609541
HP:0012823	Clinical modifier	1188	CLCNKB	OMIM:607364
HP:0012823	Clinical modifier	5700	PSMC1	OMIM:620071
HP:0012823	Clinical modifier	190	NR0B1	OMIM:300200
HP:0012823	Clinical modifier	728294	D2HGDH	OMIM:600721
HP:0012823	Clinical modifier	9095	TBX19	OMIM:201400
HP:0012823	Clinical modifier	6261	RYR1	OMIM:117000
HP:0012823	Clinical modifier	8481	OFD1	OMIM:300209
HP:0012823	Clinical modifier	974	CD79B	OMIM:612692
HP:0012823	Clinical modifier	9896	FIG4	OMIM:612691
HP:0012823	Clinical modifier	54919	DNAAF5	OMIM:614874
HP:0012823	Clinical modifier	9568	GABBR2	OMIM:617903
HP:0012823	Clinical modifier	9568	GABBR2	OMIM:617904
HP:0012823	Clinical modifier	5591	PRKDC	OMIM:615966
HP:0012823	Clinical modifier	9409	PEX16	OMIM:614877
HP:0012823	Clinical modifier	5336	PLCG2	OMIM:614878
HP:0012823	Clinical modifier	5336	PLCG2	OMIM:614468
HP:0012823	Clinical modifier	1811	SLC26A3	OMIM:214700
HP:0012823	Clinical modifier	25828	TXN2	OMIM:616811
HP:0012823	Clinical modifier	6231	RPS26	OMIM:613309
HP:0012823	Clinical modifier	6204	RPS10	OMIM:613308
HP:0012823	Clinical modifier	65217	PCDH15	OMIM:609533
HP:0012823	Clinical modifier	4677	NARS1	OMIM:619091
HP:0012823	Clinical modifier	9342	SNAP29	OMIM:609528
HP:0012823	Clinical modifier	81031	SLC2A10	OMIM:208050
HP:0012823	Clinical modifier	254065	BRWD3	OMIM:300659
HP:0012823	Clinical modifier	9147	NEMF	OMIM:619099
HP:0012823	Clinical modifier	282809	POC1B	OMIM:615973
HP:0012823	Clinical modifier	26047	CNTNAP2	OMIM:610042
HP:0012823	Clinical modifier	57654	UVSSA	OMIM:614640
HP:0012823	Clinical modifier	50628	GEMIN4	OMIM:617913
HP:0012823	Clinical modifier	2056	EPO	OMIM:617911
HP:0012823	Clinical modifier	5195	PEX14	OMIM:614887
HP:0012823	Clinical modifier	84317	CCDC115	OMIM:616828
HP:0012823	Clinical modifier	85021	REPS1	OMIM:617916
HP:0012823	Clinical modifier	3954	LETM1	OMIM:620089
HP:0012823	Clinical modifier	1487	CTBP1	OMIM:617915
HP:0012823	Clinical modifier	506	ATP5F1B	OMIM:620085
HP:0012823	Clinical modifier	4313	MMP2	OMIM:259600
HP:0012823	Clinical modifier	92154	MTSS2	OMIM:620086
HP:0012823	Clinical modifier	7248	TSC1	OMIM:607341
HP:0012823	Clinical modifier	2475	MTOR	OMIM:607341
HP:0012823	Clinical modifier	2475	MTOR	OMIM:616638
HP:0012823	Clinical modifier	84978	FRMD5	OMIM:620094
HP:0012823	Clinical modifier	23636	NUP62	OMIM:271930
HP:0012823	Clinical modifier	51004	COQ6	OMIM:614650
HP:0012823	Clinical modifier	51067	YARS2	OMIM:613561
HP:0012823	Clinical modifier	93183	PIGM	OMIM:610293
HP:0012823	Clinical modifier	3593	IL12B	OMIM:614890
HP:0012823	Clinical modifier	2581	GALC	OMIM:245200
HP:0012823	Clinical modifier	867	CBL	OMIM:613563
HP:0012823	Clinical modifier	85478	CCDC65	OMIM:615504
HP:0012823	Clinical modifier	6597	SMARCA4	OMIM:613325
HP:0012823	Clinical modifier	284119	CAVIN1	OMIM:613327
HP:0012823	Clinical modifier	2554	GABRA1	OMIM:615744
HP:0012823	Clinical modifier	137492	VPS37A	OMIM:614898
HP:0012823	Clinical modifier	10695	CNPY3	OMIM:617929
HP:0012823	Clinical modifier	5376	PMP22	OMIM:145900
HP:0012823	Clinical modifier	1959	EGR2	OMIM:145900
HP:0012823	Clinical modifier	57716	PRX	OMIM:145900
HP:0012823	Clinical modifier	1738	DLD	OMIM:246900
HP:0012823	Clinical modifier	201294	UNC13D	OMIM:608898
HP:0012823	Clinical modifier	7080	NKX2-1	OMIM:118700
HP:0012823	Clinical modifier	2982	GUCY1A1	OMIM:615750
HP:0012823	Clinical modifier	5193	PEX12	OMIM:266510
HP:0012823	Clinical modifier	100151683	RNU4ATAC	OMIM:210710
HP:0012823	Clinical modifier	29926	GMPPA	OMIM:615510
HP:0012823	Clinical modifier	9289	ADGRG1	OMIM:615752
HP:0012823	Clinical modifier	8924	HERC2	OMIM:615516
HP:0012823	Clinical modifier	3932	LCK	OMIM:615758
HP:0012823	Clinical modifier	53616	ADAM22	OMIM:617933
HP:0012823	Clinical modifier	7545	ZIC1	OMIM:616602
HP:0012823	Clinical modifier	4803	NGF	OMIM:608654
HP:0012823	Clinical modifier	6328	SCN3A	OMIM:617938
HP:0012823	Clinical modifier	8626	TP63	OMIM:604292
HP:0012823	Clinical modifier	27249	MMADHC	OMIM:277410
HP:0012823	Clinical modifier	411	ARSB	OMIM:253200
HP:0012823	Clinical modifier	54768	HYDIN	OMIM:608647
HP:0012823	Clinical modifier	5443	POMC	OMIM:609734
HP:0012823	Clinical modifier	55187	VPS13D	OMIM:607317
HP:0012823	Clinical modifier	57526	PCDH19	OMIM:300088
HP:0012823	Clinical modifier	5859	QARS1	OMIM:615760
HP:0012823	Clinical modifier	55209	SETD5	OMIM:615761
HP:0012823	Clinical modifier	5167	ENPP1	OMIM:615522
HP:0012823	Clinical modifier	6813	STXBP2	OMIM:613101
HP:0012823	Clinical modifier	58	ACTA1	OMIM:616852
HP:0012823	Clinical modifier	79631	EFL1	OMIM:617941
HP:0012823	Clinical modifier	7280	TUBB2A	OMIM:615763
HP:0012823	Clinical modifier	5429	POLH	OMIM:278750
HP:0012823	Clinical modifier	1825	DSC3	OMIM:613102
HP:0012823	Clinical modifier	56997	COQ8A	OMIM:612016
HP:0012823	Clinical modifier	91869	RFT1	OMIM:612015
HP:0012823	Clinical modifier	59067	IL21	OMIM:615767
HP:0012823	Clinical modifier	6301	SARS1	OMIM:617709
HP:0012823	Clinical modifier	1644	DDC	OMIM:608643
HP:0012823	Clinical modifier	1767	DNAH5	OMIM:608644
HP:0012823	Clinical modifier	64221	ROBO3	OMIM:607313
HP:0012823	Clinical modifier	26224	FBXL3	OMIM:606220
HP:0012823	Clinical modifier	4204	MECP2	OMIM:300055
HP:0012823	Clinical modifier	51116	MRPS2	OMIM:617950
HP:0012823	Clinical modifier	79572	ATP13A3	OMIM:265400
HP:0012823	Clinical modifier	9512	PMPCB	OMIM:617954
HP:0012823	Clinical modifier	5530	PPP3CA	OMIM:617711
HP:0012823	Clinical modifier	6097	RORC	OMIM:616622
HP:0012823	Clinical modifier	10352	WARS2	OMIM:617710
HP:0012823	Clinical modifier	51206	GP6	OMIM:614201
HP:0012823	Clinical modifier	2058	EPRS1	OMIM:617951
HP:0012823	Clinical modifier	27315	PGAP2	OMIM:614207
HP:0012823	Clinical modifier	26525	IL36RN	OMIM:614204
HP:0012823	Clinical modifier	10095	ARPC1B	OMIM:617718
HP:0012823	Clinical modifier	9056	SLC7A7	OMIM:222700
HP:0012823	Clinical modifier	2324	FLT4	OMIM:602089
HP:0012823	Clinical modifier	84168	ANTXR1	OMIM:602089
HP:0012823	Clinical modifier	3791	KDR	OMIM:602089
HP:0012823	Clinical modifier	1641	DCX	OMIM:300067
HP:0012823	Clinical modifier	163183	SYNE4	OMIM:615540
HP:0012823	Clinical modifier	80185	TTI2	OMIM:615541
HP:0012823	Clinical modifier	55780	ERMARD	OMIM:615544
HP:0012823	Clinical modifier	7289	TULP3	OMIM:619902
HP:0012823	Clinical modifier	54664	TMEM106B	OMIM:617964
HP:0012823	Clinical modifier	7421	VDR	OMIM:277440
HP:0012823	Clinical modifier	1729	DIAPH1	OMIM:616632
HP:0012823	Clinical modifier	6773	STAT2	OMIM:616636
HP:0012823	Clinical modifier	54551	MAGEL2	OMIM:615547
HP:0012823	Clinical modifier	27010	TPK1	OMIM:614458
HP:0012823	Clinical modifier	6444	SGCD	OMIM:606685
HP:0012823	Clinical modifier	7074	TIAM1	OMIM:619908
HP:0012823	Clinical modifier	51128	SAR1B	OMIM:246700
HP:0012823	Clinical modifier	10269	ZMPSTE24	OMIM:608612
HP:0012823	Clinical modifier	112858	TP53RK	OMIM:617730
HP:0012823	Clinical modifier	11280	SCN11A	OMIM:615552
HP:0012823	Clinical modifier	51501	HIKESHI	OMIM:616881
HP:0012823	Clinical modifier	57468	SLC12A5	OMIM:616645
HP:0012823	Clinical modifier	10815	CPLX1	OMIM:617976
HP:0012823	Clinical modifier	3747	KCNC2	OMIM:619913
HP:0012823	Clinical modifier	2588	GALNS	OMIM:253000
HP:0012823	Clinical modifier	84617	TUBB6	OMIM:617732
HP:0012823	Clinical modifier	6531	SLC6A3	OMIM:613135
HP:0012823	Clinical modifier	490	ATP2B1	OMIM:619910
HP:0012823	Clinical modifier	3704	ITPA	OMIM:616647
HP:0012823	Clinical modifier	5205	ATP8B1	OMIM:211600
HP:0012823	Clinical modifier	4929	NR4A2	OMIM:619911
HP:0012823	Clinical modifier	338	APOB	OMIM:615558
HP:0012823	Clinical modifier	56270	WDR45B	OMIM:617977
HP:0012823	Clinical modifier	1917	EEF1A2	OMIM:616409
HP:0012823	Clinical modifier	23209	MLC1	OMIM:604004
HP:0012823	Clinical modifier	2316	FLNA	OMIM:300048
HP:0012823	Clinical modifier	368	ABCC6	OMIM:614473
HP:0012823	Clinical modifier	5788	PTPRC	OMIM:619924
HP:0012823	Clinical modifier	4780	NFE2L2	OMIM:617744
HP:0012823	Clinical modifier	79867	TCTN2	OMIM:616654
HP:0012823	Clinical modifier	23310	NCAPD3	OMIM:617984
HP:0012823	Clinical modifier	2890	GRIA1	OMIM:619927
HP:0012823	Clinical modifier	2890	GRIA1	OMIM:619931
HP:0012823	Clinical modifier	2741	GLRA1	OMIM:149400
HP:0012823	Clinical modifier	10243	GPHN	OMIM:149400
HP:0012823	Clinical modifier	54805	CNNM2	OMIM:616418
HP:0012823	Clinical modifier	55164	SHQ1	OMIM:619921
HP:0012823	Clinical modifier	55164	SHQ1	OMIM:619922
HP:0012823	Clinical modifier	6509	SLC1A4	OMIM:616657
HP:0012823	Clinical modifier	54676	GTPBP2	OMIM:617988
HP:0012823	Clinical modifier	100506658	OCLN	OMIM:251290
HP:0012823	Clinical modifier	9215	LARGE1	OMIM:608840
HP:0012823	Clinical modifier	2819	GPD1	OMIM:614480
HP:0012823	Clinical modifier	374462	PTPRQ	OMIM:613391
HP:0012823	Clinical modifier	79934	COQ8B	OMIM:615573
HP:0012823	Clinical modifier	5879	RAC1	OMIM:617751
HP:0012823	Clinical modifier	440	ASNS	OMIM:615574
HP:0012823	Clinical modifier	9197	SLC33A1	OMIM:614482
HP:0012823	Clinical modifier	55023	PHIP	OMIM:617991
HP:0012823	Clinical modifier	3454	IFNAR1	OMIM:619935
HP:0012823	Clinical modifier	2990	GUSB	OMIM:253220
HP:0012823	Clinical modifier	10585	POMT1	OMIM:613155
HP:0012823	Clinical modifier	29954	POMT2	OMIM:613158
HP:0012823	Clinical modifier	10939	AFG3L2	OMIM:614487
HP:0012823	Clinical modifier	5718	PSMD12	OMIM:617516
HP:0012823	Clinical modifier	51294	PCDH12	OMIM:251280
HP:0012823	Clinical modifier	55812	SPATA7	OMIM:604232
HP:0012823	Clinical modifier	6223	RPS19	OMIM:105650
HP:0012823	Clinical modifier	2639	GCDH	OMIM:231670
HP:0012823	Clinical modifier	51733	UPB1	OMIM:613161
HP:0012823	Clinical modifier	101929726	MYMX	OMIM:619941
HP:0012823	Clinical modifier	23404	EXOSC2	OMIM:617763
HP:0012823	Clinical modifier	55331	ACER3	OMIM:617762
HP:0012823	Clinical modifier	8803	SUCLA2	OMIM:612073
HP:0012823	Clinical modifier	79587	CARS2	OMIM:616672
HP:0012823	Clinical modifier	2697	GJA1	OMIM:617525
HP:0012823	Clinical modifier	96459	FNIP1	OMIM:619705
HP:0012823	Clinical modifier	1794	DOCK2	OMIM:616433
HP:0012823	Clinical modifier	55753	OGDHL	OMIM:619701
HP:0012823	Clinical modifier	126792	B3GALT6	OMIM:615349
HP:0012823	Clinical modifier	58499	ZNF462	OMIM:618619
HP:0012823	Clinical modifier	25974	MMACHC	OMIM:277400
HP:0012823	Clinical modifier	5052	PRDX1	OMIM:277400
HP:0012823	Clinical modifier	8328	GFI1B	OMIM:187900
HP:0012823	Clinical modifier	4292	MLH1	OMIM:158320
HP:0012823	Clinical modifier	4436	MSH2	OMIM:158320
HP:0012823	Clinical modifier	6622	SNCA	OMIM:605543
HP:0012823	Clinical modifier	1410	CRYAB	OMIM:608810
HP:0012823	Clinical modifier	1410	CRYAB	OMIM:615184
HP:0012823	Clinical modifier	10159	ATP6AP2	OMIM:300911
HP:0012823	Clinical modifier	7384	UQCRC1	OMIM:619279
HP:0012823	Clinical modifier	6331	SCN5A	OMIM:614022
HP:0012823	Clinical modifier	583	BBS2	OMIM:616562
HP:0012823	Clinical modifier	4750	NEK1	OMIM:617892
HP:0012823	Clinical modifier	8573	CASK	OMIM:300908
HP:0012823	Clinical modifier	2539	G6PD	OMIM:300908
HP:0012823	Clinical modifier	9782	MATR3	OMIM:606070
HP:0012823	Clinical modifier	7415	VCP	OMIM:616687
HP:0012823	Clinical modifier	7415	VCP	OMIM:167320
HP:0012823	Clinical modifier	7415	VCP	OMIM:613954
HP:0012823	Clinical modifier	3910	LAMA4	OMIM:615235
HP:0012823	Clinical modifier	400916	CHCHD10	OMIM:615911
HP:0012823	Clinical modifier	400916	CHCHD10	OMIM:615048
HP:0012823	Clinical modifier	7277	TUBA4A	OMIM:616208
HP:0012823	Clinical modifier	5165	PDK3	OMIM:300905
HP:0012823	Clinical modifier	3703	STT3A	OMIM:619714
HP:0012823	Clinical modifier	5894	RAF1	OMIM:615916
HP:0012823	Clinical modifier	5155	PDGFB	OMIM:615483
HP:0012823	Clinical modifier	70	ACTC1	OMIM:612098
HP:0012823	Clinical modifier	70	ACTC1	OMIM:613424
HP:0012823	Clinical modifier	84665	MYPN	OMIM:615248
HP:0012823	Clinical modifier	84665	MYPN	OMIM:617336
HP:0012823	Clinical modifier	3759	KCNJ2	OMIM:613980
HP:0012823	Clinical modifier	54982	CLN6	OMIM:204300
HP:0012823	Clinical modifier	1824	DSC2	OMIM:610476
HP:0012823	Clinical modifier	5159	PDGFRB	OMIM:615007
HP:0012823	Clinical modifier	4884	NPTX1	OMIM:620158
HP:0012823	Clinical modifier	7015	TERT	OMIM:613989
HP:0012823	Clinical modifier	55034	MOCOS	OMIM:603592
HP:0012823	Clinical modifier	5649	RELN	OMIM:600512
HP:0012823	Clinical modifier	64780	MICAL1	OMIM:600512
HP:0012823	Clinical modifier	9211	LGI1	OMIM:600512
HP:0012823	Clinical modifier	2273	FHL1	OMIM:300695
HP:0012823	Clinical modifier	64601	VPS16	OMIM:619291
HP:0012823	Clinical modifier	653509	SFTPA1	OMIM:619611
HP:0012823	Clinical modifier	57449	PLEKHG5	OMIM:615376
HP:0012823	Clinical modifier	50484	RRM2B	OMIM:613077
HP:0012823	Clinical modifier	79797	ZNF408	OMIM:616469
HP:0012823	Clinical modifier	79797	ZNF408	OMIM:616468
HP:0012823	Clinical modifier	4901	NRL	OMIM:613750
HP:0012823	Clinical modifier	2702	GJA5	OMIM:614049
HP:0012823	Clinical modifier	6324	SCN1B	OMIM:615377
HP:0012823	Clinical modifier	6327	SCN2B	OMIM:615378
HP:0012823	Clinical modifier	9149	DYRK1B	OMIM:615812
HP:0012823	Clinical modifier	8930	MBD4	OMIM:619975
HP:0012823	Clinical modifier	311	ANXA11	OMIM:619733
HP:0012823	Clinical modifier	311	ANXA11	OMIM:617839
HP:0012823	Clinical modifier	5350	PLN	OMIM:613874
HP:0012823	Clinical modifier	5173	PDYN	OMIM:610245
HP:0012823	Clinical modifier	80201	HKDC1	OMIM:619614
HP:0012823	Clinical modifier	7123	CLEC3B	OMIM:619977
HP:0012823	Clinical modifier	29967	LRP12	OMIM:164310
HP:0012823	Clinical modifier	9750	RIPOR2	OMIM:607017
HP:0012823	Clinical modifier	10060	ABCC9	OMIM:614050
HP:0012823	Clinical modifier	10060	ABCC9	OMIM:608569
HP:0012823	Clinical modifier	659	BMPR2	OMIM:178600
HP:0012823	Clinical modifier	5442	POLRMT	OMIM:619743
HP:0012823	Clinical modifier	65055	REEP1	OMIM:610250
HP:0012823	Clinical modifier	9517	SPTLC2	OMIM:613640
HP:0012823	Clinical modifier	246243	RNASEH1	OMIM:616479
HP:0012823	Clinical modifier	9531	BAG3	OMIM:613881
HP:0012823	Clinical modifier	1600	DAB1	OMIM:615945
HP:0012823	Clinical modifier	6392	SDHD	OMIM:168000
HP:0012823	Clinical modifier	9096	TBX18	OMIM:143400
HP:0012823	Clinical modifier	9907	AP5Z1	OMIM:613647
HP:0012823	Clinical modifier	6908	TBP	OMIM:607136
HP:0012823	Clinical modifier	4854	NOTCH3	OMIM:125310
HP:0012823	Clinical modifier	9897	WASHC5	OMIM:603563
HP:0012823	Clinical modifier	2512	FTL	OMIM:606159
HP:0012823	Clinical modifier	5311	PKD2	OMIM:613095
HP:0012823	Clinical modifier	4117	MAK	OMIM:614181
HP:0012823	Clinical modifier	5314	PKHD1	OMIM:263200
HP:0012823	Clinical modifier	5255	PHKA1	OMIM:300559
HP:0012823	Clinical modifier	54902	TTC19	OMIM:615157
HP:0012823	Clinical modifier	51604	PIGT	OMIM:615399
HP:0012823	Clinical modifier	4878	NPPA	OMIM:612201
HP:0012823	Clinical modifier	57863	CADM3	OMIM:619519
HP:0012823	Clinical modifier	389692	MAFA	OMIM:147630
HP:0012823	Clinical modifier	7139	TNNT2	OMIM:115195
HP:0012823	Clinical modifier	7139	TNNT2	OMIM:601494
HP:0012823	Clinical modifier	60481	ELOVL5	OMIM:615957
HP:0012823	Clinical modifier	10059	DNM1L	OMIM:610708
HP:0012823	Clinical modifier	4763	NF1	OMIM:162210
HP:0012823	Clinical modifier	4669	NAGLU	OMIM:616491
HP:0012823	Clinical modifier	23095	KIF1B	OMIM:118210
HP:0012823	Clinical modifier	4437	MSH3	OMIM:617100
HP:0012823	Clinical modifier	3075	CFH	OMIM:126700
HP:0012823	Clinical modifier	2542	SLC37A4	OMIM:619525
HP:0012823	Clinical modifier	6117	RPA1	OMIM:619767
HP:0012823	Clinical modifier	11149	BVES	OMIM:616812
HP:0012823	Clinical modifier	29110	TBK1	OMIM:617900
HP:0012823	Clinical modifier	57462	MYORG	OMIM:618317
HP:0012823	Clinical modifier	4137	MAPT	OMIM:600274
HP:0012823	Clinical modifier	5663	PSEN1	OMIM:600274
HP:0012823	Clinical modifier	5663	PSEN1	OMIM:613694
HP:0012823	Clinical modifier	1436	CSF1R	OMIM:221820
HP:0012823	Clinical modifier	1282	COL4A1	OMIM:618564
HP:0012823	Clinical modifier	9992	KCNE2	OMIM:611493
HP:0012823	Clinical modifier	3717	JAK2	OMIM:263300
HP:0012823	Clinical modifier	10133	OPTN	OMIM:613435
HP:0012823	Clinical modifier	3752	KCND3	OMIM:607346
HP:0012823	Clinical modifier	3752	KCND3	OMIM:616399
HP:0012823	Clinical modifier	203859	ANO5	OMIM:613319
HP:0012823	Clinical modifier	203859	ANO5	OMIM:611307
HP:0012823	Clinical modifier	7045	TGFBI	OMIM:121820
HP:0012823	Clinical modifier	351	APP	OMIM:605714
HP:0012823	Clinical modifier	5654	HTRA1	OMIM:600142
HP:0012823	Clinical modifier	5654	HTRA1	OMIM:616779
HP:0012823	Clinical modifier	23676	SMPX	OMIM:301075
HP:0012823	Clinical modifier	9217	VAPB	OMIM:182980
HP:0012823	Clinical modifier	9217	VAPB	OMIM:608627
HP:0012823	Clinical modifier	59345	GNB4	OMIM:615185
HP:0012823	Clinical modifier	50939	IMPG2	OMIM:616152
HP:0012823	Clinical modifier	23093	TTLL5	OMIM:615860
HP:0012823	Clinical modifier	3798	KIF5A	OMIM:617921
HP:0012823	Clinical modifier	51142	CHCHD2	OMIM:616710
HP:0012823	Clinical modifier	339453	TMEM240	OMIM:607454
HP:0012823	Clinical modifier	1674	DES	OMIM:181400
HP:0012823	Clinical modifier	1861	TOR1A	OMIM:128100
HP:0012823	Clinical modifier	8729	GBF1	OMIM:606483
HP:0012823	Clinical modifier	1134	CHRNA1	OMIM:601462
HP:0012823	Clinical modifier	4141	MARS1	OMIM:616280
HP:0012823	Clinical modifier	92935	MARS2	OMIM:611390
HP:0012823	Clinical modifier	3741	KCNA5	OMIM:612240
HP:0012823	Clinical modifier	9698	PUM1	OMIM:617931
HP:0012823	Clinical modifier	4311	MME	OMIM:617018
HP:0012823	Clinical modifier	4311	MME	OMIM:617017
HP:0012823	Clinical modifier	5664	PSEN2	OMIM:613697
HP:0012823	Clinical modifier	5664	PSEN2	OMIM:606889
HP:0012823	Clinical modifier	2066	ERBB4	OMIM:615515
HP:0012823	Clinical modifier	5428	POLG	OMIM:258450
HP:0012823	Clinical modifier	5428	POLG	OMIM:157640
HP:0012823	Clinical modifier	3315	HSPB1	OMIM:606595
HP:0012823	Clinical modifier	10516	FBLN5	OMIM:608895
HP:0012823	Clinical modifier	2200	FBN1	OMIM:129600
HP:0012823	Clinical modifier	7555	CNBP	OMIM:602668
HP:0012823	Clinical modifier	256471	MFSD8	OMIM:616170
HP:0012823	Clinical modifier	7317	UBA1	OMIM:301054
HP:0012823	Clinical modifier	3748	KCNC3	OMIM:605259
HP:0012823	Clinical modifier	1822	ATN1	OMIM:125370
HP:0012823	Clinical modifier	440193	CCDC88C	OMIM:616053
HP:0012823	Clinical modifier	25814	ATXN10	OMIM:603516
HP:0012823	Clinical modifier	57798	GATAD1	OMIM:614672
HP:0012823	Clinical modifier	1829	DSG2	OMIM:610193
HP:0012823	Clinical modifier	440275	EIF2AK4	OMIM:234810
HP:0012823	Clinical modifier	57505	AARS2	OMIM:615889
HP:0012823	Clinical modifier	54822	TRPM7	OMIM:105500
HP:0012823	Clinical modifier	4010	LMX1B	OMIM:256020
HP:0012823	Clinical modifier	324	APC	OMIM:135290
HP:0012823	Clinical modifier	3784	KCNQ1	OMIM:607554
HP:0012823	Clinical modifier	343641	TGM6	OMIM:613908
HP:0012823	Clinical modifier	5071	PRKN	OMIM:600116
HP:0012823	Clinical modifier	727676	SNORD118	OMIM:614561
HP:0012823	Clinical modifier	1181	CLCN2	OMIM:615651
HP:0012823	Clinical modifier	29978	UBQLN2	OMIM:300857
HP:0012823	Clinical modifier	8622	PDE8B	OMIM:609161
HP:0012823	Clinical modifier	8314	BAP1	OMIM:614327
HP:0012823	Clinical modifier	1000	CDH2	OMIM:618920
HP:0012823	Clinical modifier	5837	PYGM	OMIM:232600
HP:0012823	Clinical modifier	100134444	KCNJ18	OMIM:613239
HP:0012823	Clinical modifier	825	CAPN3	OMIM:618129
HP:0012823	Clinical modifier	55975	KLHL7	OMIM:612943
HP:0012823	Clinical modifier	116442	RAB39B	OMIM:311510
HP:0012823	Clinical modifier	2218	FKTN	OMIM:611615
HP:0012823	Clinical modifier	3119	HLA-DQB1	OMIM:123400
HP:0012823	Clinical modifier	5621	PRNP	OMIM:123400
HP:0012823	Clinical modifier	5621	PRNP	OMIM:606688
HP:0012823	Clinical modifier	2632	GBE1	OMIM:263570
HP:0012823	Clinical modifier	9420	CYP7B1	OMIM:270800
HP:0012823	Clinical modifier	2318	FLNC	OMIM:617047
HP:0012823	Clinical modifier	9445	ITM2B	OMIM:616079
HP:0012823	Clinical modifier	4015	LOX	OMIM:617168
HP:0012823	Clinical modifier	10667	FARS2	OMIM:617046
HP:0012823	Clinical modifier	2992	GYG1	OMIM:616199
HP:0012823	Clinical modifier	55800	SCN3B	OMIM:613120
HP:0012823	Clinical modifier	4072	EPCAM	OMIM:613244
HP:0012823	Clinical modifier	3178	HNRNPA1	OMIM:615424
HP:0012823	Clinical modifier	7134	TNNC1	OMIM:613243
HP:0012823	Clinical modifier	7134	TNNC1	OMIM:611879
HP:0012823	Clinical modifier	91624	NEXN	OMIM:613122
HP:0012823	Clinical modifier	26060	APPL1	OMIM:616511
HP:0012823	Clinical modifier	10320	IKZF1	OMIM:616873
HP:0012823	Clinical modifier	2224	FDPS	OMIM:616631
HP:0012823	Clinical modifier	7273	TTN	OMIM:604145
HP:0012823	Clinical modifier	9563	H6PD	OMIM:604931
HP:0012823	Clinical modifier	57338	JPH3	OMIM:606438
HP:0012823	Clinical modifier	1816	DRD5	OMIM:606798
HP:0012823	Clinical modifier	55791	LRIF1	OMIM:619477
HP:0012823	Clinical modifier	100996717	NOTCH2NLC	OMIM:619473
HP:0012823	Clinical modifier	4624	MYH6	OMIM:613252
HP:0012823	Clinical modifier	7414	VCL	OMIM:613255
HP:0012823	Clinical modifier	7414	VCL	OMIM:611407
HP:0012823	Clinical modifier	84196	USP48	OMIM:620227
HP:0012823	Clinical modifier	84839	RAX2	OMIM:620102
HP:0012823	Clinical modifier	7168	TPM1	OMIM:611878
HP:0012823	Clinical modifier	672	BRCA1	OMIM:604370
HP:0012823	Clinical modifier	1495	CTNNA1	OMIM:608970
HP:0012823	Clinical modifier	84868	HAVCR2	OMIM:618398
HP:0012823	Clinical modifier	10483	SEC23B	OMIM:224100
HP:0012823	Clinical modifier	7084	TK2	OMIM:617069
HP:0012823	Clinical modifier	3827	KNG1	OMIM:619363
HP:0012823	Clinical modifier	491	ATP2B2	OMIM:619804
HP:0012823	Clinical modifier	219285	SAMD9L	OMIM:619806
HP:0012823	Clinical modifier	8911	CACNA1I	OMIM:620114
HP:0012823	Clinical modifier	1786	DNMT1	OMIM:604121
HP:0012823	Clinical modifier	3710	ITPR3	OMIM:620111
HP:0012823	Clinical modifier	10137	RBM12	OMIM:617629
HP:0012823	Clinical modifier	6785	ELOVL4	OMIM:133190
HP:0012823	Clinical modifier	9516	LITAF	OMIM:601098
HP:0012823	Clinical modifier	4131	MAP1B	OMIM:619808
HP:0012823	Clinical modifier	80208	SPG11	OMIM:604360
HP:0012823	Clinical modifier	5660	PSAP	OMIM:619491
HP:0012823	Clinical modifier	25978	CHMP2B	OMIM:600795
HP:0012823	Clinical modifier	1716	DGUOK	OMIM:617070
HP:0012823	Clinical modifier	6389	SDHA	OMIM:619259
HP:0012823	Clinical modifier	1540	CYLD	OMIM:619132
HP:0012823	Clinical modifier	7072	TIA1	OMIM:619133
HP:0012823	Clinical modifier	8651	SOCS1	OMIM:619375
HP:0012823	Clinical modifier	138050	HGSNAT	OMIM:616544
HP:0012823	Clinical modifier	7716	VEZF1	OMIM:620247
HP:0012823	Clinical modifier	654	BMP6	OMIM:620121
HP:0012823	Clinical modifier	6609	SMPD1	OMIM:607616
HP:0012823	Clinical modifier	348	APOE	OMIM:606889
HP:0012823	Clinical modifier	4359	MPZ	OMIM:607736
HP:0012823	Clinical modifier	899	CCNF	OMIM:619141
HP:0012823	Clinical modifier	23193	GANAB	OMIM:600666
HP:0012823	Clinical modifier	6103	RPGR	OMIM:300029
HP:0012823	Clinical modifier	857	CAV1	OMIM:615343
HP:0012823	Clinical modifier	4747	NEFL	OMIM:617882
HP:0012823	Clinical modifier	1981	EIF4G1	OMIM:614251
HP:0012823	Clinical modifier	7137	TNNI3	OMIM:613286
HP:0012823	Clinical modifier	4000	LMNA	OMIM:115200
HP:0012823	Clinical modifier	79875	THSD4	OMIM:619825
HP:0012823	Clinical modifier	16	AARS1	OMIM:613287
HP:0012823	Clinical modifier	3777	KCNK3	OMIM:615344
HP:0012823	Clinical modifier	2196	FAT2	OMIM:617769
HP:0012823	Clinical modifier	55901	THSD1	OMIM:618734
HP:0012823	Clinical modifier	8996	NOL3	OMIM:614937
HP:0012823	Clinical modifier	10299	MARCHF6	OMIM:613608
HP:0012823	Clinical modifier	55129	ANO10	OMIM:613728
HP:0012823	Clinical modifier	80036	TRPM3	OMIM:620253
HP:0012823	Clinical modifier	64170	CARD9	OMIM:212050
HP:0012823	Clinical modifier	151648	SGO1	OMIM:616201
HP:0012823	Clinical modifier	7293	TNFRSF4	OMIM:615593
HP:0012823	Clinical modifier	253017	TECRL	OMIM:614021
HP:0012823	Clinical modifier	63924	CIDEC	OMIM:615238
HP:0012823	Clinical modifier	125150	ZSWIM7	OMIM:619834
HP:0012823	Clinical modifier	7068	THRB	OMIM:274300
HP:0012823	Clinical modifier	1736	DKC1	OMIM:305000
HP:0012823	Clinical modifier	27022	FOXD3	OMIM:607836
HP:0012823	Clinical modifier	2099	ESR1	OMIM:615363
HP:0012823	Clinical modifier	92840	REEP6	OMIM:617304
HP:0012823	Clinical modifier	79639	TMEM53	OMIM:619727
HP:0012823	Clinical modifier	10686	CLDN16	OMIM:248250
HP:0012823	Clinical modifier	1476	CSTB	OMIM:254800
HP:0012823	Clinical modifier	81846	SBF2	OMIM:604563
HP:0012823	Clinical modifier	51083	GAL	OMIM:616461
HP:0012823	Clinical modifier	6772	STAT1	OMIM:614162
HP:0012823	Clinical modifier	6772	STAT1	OMIM:614892
HP:0012823	Clinical modifier	63976	PRDM16	OMIM:615373
HP:0012823	Clinical modifier	9364	RAB28	OMIM:615374
HP:0012823	Clinical modifier	567	B2M	OMIM:241600
HP:0012823	Clinical modifier	10935	PRDX3	OMIM:619862
HP:0012823	Clinical modifier	10935	PRDX3	OMIM:619871
HP:0012823	Clinical modifier	4439	MSH5	OMIM:617442
HP:0012823	Clinical modifier	9723	SEMA3E	OMIM:146110
HP:0012823	Clinical modifier	558	AXL	OMIM:146110
HP:0012823	Clinical modifier	2798	GNRHR	OMIM:146110
HP:0012823	Clinical modifier	2796	GNRH1	OMIM:146110
HP:0012823	Clinical modifier	10011	SRA1	OMIM:146110
HP:0012823	Clinical modifier	55717	WDR11	OMIM:146110
HP:0012823	Clinical modifier	8822	FGF17	OMIM:146110
HP:0012823	Clinical modifier	1848	DUSP6	OMIM:146110
HP:0012823	Clinical modifier	81848	SPRY4	OMIM:146110
HP:0012823	Clinical modifier	285025	CCDC141	OMIM:146110
HP:0012823	Clinical modifier	389549	FEZF1	OMIM:146110
HP:0012823	Clinical modifier	389549	FEZF1	OMIM:616030
HP:0012823	Clinical modifier	51271	UBAP1	OMIM:618418
HP:0012823	Clinical modifier	55526	DHTKD1	OMIM:615025
HP:0012823	Clinical modifier	1201	CLN3	OMIM:204200
HP:0012823	Clinical modifier	9529	BAG5	OMIM:619747
HP:0012823	Clinical modifier	4053	LTBP2	OMIM:251750
HP:0012823	Clinical modifier	10594	PRPF8	OMIM:600059
HP:0012823	Clinical modifier	29775	CARD10	OMIM:619632
HP:0012823	Clinical modifier	23767	FLRT3	OMIM:615271
HP:0012823	Clinical modifier	402381	SOHLH1	OMIM:617690
HP:0012823	Clinical modifier	63982	ANO3	OMIM:615034
HP:0012823	Clinical modifier	4808	NHLH2	OMIM:619755
HP:0012823	Clinical modifier	6262	RYR2	OMIM:604772
HP:0012823	Clinical modifier	845	CASQ2	OMIM:604772
HP:0012823	Clinical modifier	1180	CLCN1	OMIM:255700
HP:0012823	Clinical modifier	1180	CLCN1	OMIM:160800
HP:0012823	Clinical modifier	51284	TLR7	OMIM:301080
HP:0012823	Clinical modifier	6101	RP1	OMIM:180100
HP:0012823	Clinical modifier	79991	STN1	OMIM:617341
HP:0012823	Clinical modifier	7075	TIE1	OMIM:619401
HP:0012823	Clinical modifier	84343	HPS3	OMIM:614072
HP:0012823	Clinical modifier	150274	HSCB	OMIM:619523
HP:0012823	Clinical modifier	5800	PTPRO	OMIM:614196
HP:0012823	Clinical modifier	11261	CHP1	OMIM:618438
HP:0012823	Clinical modifier	540	ATP7B	OMIM:277900
HP:0012823	Clinical modifier	2556	GABRA3	OMIM:301091
HP:0012823	Clinical modifier	3373	HYAL1	OMIM:601492
HP:0012823	Clinical modifier	83723	TLCD3B	OMIM:619531
HP:0012823	Clinical modifier	64377	CHST8	OMIM:616265
HP:0012823	Clinical modifier	2395	FXN	OMIM:229300
HP:0012823	Clinical modifier	2694	CBLIF	OMIM:261000
HP:0012823	Clinical modifier	79651	RHBDF2	OMIM:148500
HP:0012823	Clinical modifier	8974	P4HA2	OMIM:617238
HP:0012823	Clinical modifier	2591	GALNT3	OMIM:211900
HP:0012823	Clinical modifier	5213	PFKM	OMIM:232800
HP:0012823	Clinical modifier	1967	EIF2B1	OMIM:603896
HP:0012823	Clinical modifier	1832	DSP	OMIM:612908
HP:0012823	Clinical modifier	859	CAV3	OMIM:611818
HP:0012823	Clinical modifier	859	CAV3	OMIM:606072
HP:0012823	Clinical modifier	859	CAV3	OMIM:614321
HP:0012823	Clinical modifier	5083	PAX9	OMIM:604625
HP:0012823	Clinical modifier	23514	SPIDR	OMIM:619665
HP:0012823	Clinical modifier	3980	LIG3	OMIM:619780
HP:0012823	Clinical modifier	10142	AKAP9	OMIM:611820
HP:0012823	Clinical modifier	9138	ARHGEF1	OMIM:618459
HP:0012823	Clinical modifier	4175	MCM6	OMIM:223100
HP:0012823	Clinical modifier	9210	BMP15	OMIM:300510
HP:0012823	Clinical modifier	4179	CD46	OMIM:612922
HP:0012823	Clinical modifier	55243	KIRREL1	OMIM:619201
HP:0012823	Clinical modifier	84909	AOPEP	OMIM:619565
HP:0012823	Clinical modifier	745	MYRF	OMIM:618113
HP:0012823	Clinical modifier	4722	NDUFS3	OMIM:618230
HP:0012823	Clinical modifier	23586	RIGI	OMIM:616298
HP:0012823	Clinical modifier	60509	AGBL5	OMIM:617023
HP:0012823	Clinical modifier	3939	LDHA	OMIM:612933
HP:0012823	Clinical modifier	4166	CHST6	OMIM:217800
HP:0012823	Clinical modifier	84061	MAGT1	OMIM:300853
HP:0012823	Clinical modifier	254394	MCM9	OMIM:616185
HP:0012823	Clinical modifier	63910	SLC17A9	OMIM:616063
HP:0012823	Clinical modifier	6530	SLC6A2	OMIM:604715
HP:0012823	Clinical modifier	7275	TUB	OMIM:616188
HP:0012823	Clinical modifier	6102	RP2	OMIM:312600
HP:0012823	Clinical modifier	4864	NPC1	OMIM:257220
HP:0012823	Clinical modifier	55863	TMEM126B	OMIM:618250
HP:0012823	Clinical modifier	112812	FDX2	OMIM:251900
HP:0012823	Clinical modifier	5611	DNAJC3	OMIM:616192
HP:0012823	Clinical modifier	55340	GIMAP5	OMIM:619463
HP:0012823	Clinical modifier	10205	MPZL2	OMIM:618145
HP:0012823	Clinical modifier	10519	CIB1	OMIM:618267
HP:0012823	Clinical modifier	1053	CEBPE	OMIM:260570
HP:0012823	Clinical modifier	55229	PANK4	OMIM:619593
HP:0012823	Clinical modifier	64849	SLC13A3	OMIM:618384
HP:0012823	Clinical modifier	920	CD4	OMIM:619238
HP:0012823	Clinical modifier	6573	SLC19A1	OMIM:601775
HP:0012823	Clinical modifier	60676	PAPPA2	OMIM:619489
HP:0012823	Clinical modifier	55145	THAP1	OMIM:602629
HP:0012823	Clinical modifier	6508	SLC4A3	OMIM:620231
HP:0012823	Clinical modifier	81624	DIAPH3	OMIM:609129
HP:0012823	Clinical modifier	85358	SHANK3	OMIM:613950
HP:0012823	Clinical modifier	256472	TMEM151A	OMIM:620245
HP:0012823	Clinical modifier	1719	DHFR	OMIM:613839
HP:0012823	Clinical modifier	51778	MYOZ2	OMIM:613838
HP:0012823	Clinical modifier	84277	DNAJC30	OMIM:619382
HP:0012823	Clinical modifier	403	ARL3	OMIM:618173
HP:0012823	Clinical modifier	23500	DAAM2	OMIM:619263
HP:0012823	Clinical modifier	8910	SGCE	OMIM:159900
HP:0012823	Clinical modifier	125170	MIEF2	OMIM:619024
HP:0012823	Clinical modifier	6559	SLC12A3	OMIM:263800
HP:0012823	Clinical modifier	23224	SYNE2	OMIM:612999
HP:0012823	Clinical modifier	6342	SCP2	OMIM:613724
HP:0012823	Clinical modifier	2131	EXT1	OMIM:133700
HP:0012823	Clinical modifier	785	CACNB4	OMIM:613855
HP:0012823	Clinical modifier	785	CACNB4	OMIM:607682
HP:0012823	Clinical modifier	55851	PSENEN	OMIM:613736
HP:0012823	Clinical modifier	130557	ZNF513	OMIM:613617
HP:0012823	Clinical modifier	7879	RAB7A	OMIM:600882
HP:0012823	Clinical modifier	843	CASP10	OMIM:603909
HP:0012823	Clinical modifier	79947	DHDDS	OMIM:613861
HP:0012823	Clinical modifier	1135	CHRNA2	OMIM:610353
HP:0012823	Clinical modifier	9128	PRPF4	OMIM:615922
HP:0012823	Clinical modifier	50940	PDE11A	OMIM:610475
HP:0012823	Clinical modifier	55651	NHP2	OMIM:613987
HP:0012823	Clinical modifier	54476	RNF216	OMIM:212840
HP:0012823	Clinical modifier	84634	KISS1R	OMIM:614837
HP:0012823	Clinical modifier	51204	TACO1	OMIM:619052
HP:0012823	Clinical modifier	6452	SH3BP2	OMIM:118400
HP:0012823	Clinical modifier	1427	CRYGS	OMIM:116100
HP:0012823	Clinical modifier	116228	COX20	OMIM:619054
HP:0012823	Clinical modifier	6521	SLC4A1	OMIM:179800
HP:0012823	Clinical modifier	26277	TINF2	OMIM:613990
HP:0012823	Clinical modifier	353	APRT	OMIM:614723
HP:0012823	Clinical modifier	3814	KISS1	OMIM:614842
HP:0012823	Clinical modifier	5573	PRKAR1A	OMIM:610489
HP:0012823	Clinical modifier	22	ABCB7	OMIM:301310
HP:0012823	Clinical modifier	100303755	PET117	OMIM:619063
HP:0012823	Clinical modifier	57697	FANCM	OMIM:618096
HP:0012823	Clinical modifier	55775	TDP1	OMIM:607250
HP:0012823	Clinical modifier	2492	FSHR	OMIM:233300
HP:0012823	Clinical modifier	388551	CEACAM16	OMIM:614614
HP:0012823	Clinical modifier	6399	TRAPPC2	OMIM:313400
HP:0012823	Clinical modifier	283375	SLC39A5	OMIM:615946
HP:0012823	Clinical modifier	80216	ALPK1	OMIM:614979
HP:0012823	Clinical modifier	22953	P2RX2	OMIM:608224
HP:0012823	Clinical modifier	84138	SLC7A6OS	OMIM:619191
HP:0012823	Clinical modifier	5149	PDE6H	OMIM:610024
HP:0012823	Clinical modifier	375748	ERCC6L2	OMIM:615715
HP:0012823	Clinical modifier	80704	SLC19A3	OMIM:607483
HP:0012823	Clinical modifier	23175	LPIN1	OMIM:268200
HP:0012823	Clinical modifier	7274	TTPA	OMIM:277460
HP:0012823	Clinical modifier	5191	PEX7	OMIM:614879
HP:0012823	Clinical modifier	6742	SSBP1	OMIM:165510
HP:0012823	Clinical modifier	7234	TRU-TCA1-1	OMIM:620198
HP:0012823	Clinical modifier	5230	PGK1	OMIM:300653
HP:0012823	Clinical modifier	2717	GLA	OMIM:301500
HP:0012823	Clinical modifier	10002	NR2E3	OMIM:611131
HP:0012823	Clinical modifier	1535	CYBA	OMIM:233690
HP:0012823	Clinical modifier	29119	CTNNA3	OMIM:615616
HP:0012823	Clinical modifier	26353	HSPB8	OMIM:608673
HP:0012823	Clinical modifier	23479	ISCU	OMIM:255125
HP:0012823	Clinical modifier	10457	GPNMB	OMIM:617920
HP:0012823	Clinical modifier	3371	TNC	OMIM:615629
HP:0012823	Clinical modifier	113457	TUBA3D	OMIM:617928
HP:0012823	Clinical modifier	57094	CPA6	OMIM:614417
HP:0012823	Clinical modifier	3736	KCNA1	OMIM:160120
HP:0012823	Clinical modifier	1121	CHM	OMIM:303100
HP:0012823	Clinical modifier	631	BFSP1	OMIM:611391
HP:0012823	Clinical modifier	25923	ATL3	OMIM:615632
HP:0012823	Clinical modifier	4688	NCF2	OMIM:233710
HP:0012823	Clinical modifier	114327	EFHC1	OMIM:254770
HP:0012823	Clinical modifier	114327	EFHC1	OMIM:607631
HP:0012823	Clinical modifier	3290	HSD11B1	OMIM:614662
HP:0012823	Clinical modifier	1776	DNASE1L3	OMIM:614420
HP:0012823	Clinical modifier	11133	KPTN	OMIM:615637
HP:0012823	Clinical modifier	6900	CNTN2	OMIM:615400
HP:0012823	Clinical modifier	10758	TRAF3IP2	OMIM:615527
HP:0012823	Clinical modifier	6443	SGCB	OMIM:604286
HP:0012823	Clinical modifier	3643	INSR	OMIM:609968
HP:0012823	Clinical modifier	6578	SLCO2A1	OMIM:614441
HP:0012823	Clinical modifier	10560	SLC19A2	OMIM:249270
HP:0012823	Clinical modifier	29893	PSMC3IP	OMIM:614324
HP:0012823	Clinical modifier	102	ADAM10	OMIM:615537
HP:0012823	Clinical modifier	4634	MYL3	OMIM:608751
HP:0012823	Clinical modifier	2232	FDXR	OMIM:617717
HP:0012823	Clinical modifier	3868	KRT16	OMIM:613000
HP:0012823	Clinical modifier	55857	KIZ	OMIM:615780
HP:0012823	Clinical modifier	7098	TLR3	OMIM:613002
HP:0012823	Clinical modifier	88	ACTN2	OMIM:612158
HP:0012823	Clinical modifier	653361	NCF1	OMIM:233700
HP:0012823	Clinical modifier	3702	ITK	OMIM:613011
HP:0012823	Clinical modifier	7043	TGFB3	OMIM:107970
HP:0012823	Clinical modifier	11235	PDCD10	OMIM:603285
HP:0012823	Clinical modifier	10319	LAMC3	OMIM:614115
HP:0012823	Clinical modifier	3661	IRF3	OMIM:616532
HP:0012823	Clinical modifier	5294	PIK3CG	OMIM:619802
HP:0012823	Clinical modifier	29929	ALG6	OMIM:603147
HP:0012823	Clinical modifier	24	ABCA4	OMIM:604116
HP:0012823	Clinical modifier	3920	LAMP2	OMIM:300257
HP:0012823	Clinical modifier	6529	SLC6A1	OMIM:616421
HP:0012823	Clinical modifier	5538	PPT1	OMIM:256730
HP:0012823	Clinical modifier	1203	CLN5	OMIM:256731
HP:0012823	Clinical modifier	846	CASR	OMIM:601198
HP:0012823	Clinical modifier	22978	NT5C2	OMIM:613162
HP:0012823	Clinical modifier	10654	PMVK	OMIM:175800
HP:0012823	Clinical modifier	1297	COL9A1	OMIM:614135
HP:0012823	Clinical modifier	285489	DOK7	OMIM:254300
HP:0012823	Clinical modifier	3689	ITGB2	OMIM:116920
HP:0012823	Clinical modifier	6555	SLC10A2	OMIM:613291
HP:0012823	Clinical modifier	51399	TRAPPC4	OMIM:618741
HP:0012823	Clinical modifier	57128	LYRM4	OMIM:615595
HP:0012823	Clinical modifier	5361	PLXNA1	OMIM:619955
HP:0012823	Clinical modifier	387787	LIPT2	OMIM:617668
HP:0012823	Clinical modifier	9200	HACD1	OMIM:619967
HP:0012823	Clinical modifier	85465	SELENOI	OMIM:618768
HP:0012823	Clinical modifier	790955	UQCC3	OMIM:616111
HP:0012823	Clinical modifier	11154	AP4S1	OMIM:614067
HP:0012823	Clinical modifier	805	CALM2	OMIM:616249
HP:0012823	Clinical modifier	6523	SLC5A1	OMIM:606824
HP:0012823	Clinical modifier	487	ATP2A1	OMIM:601003
HP:0012823	Clinical modifier	54941	RNF125	OMIM:616260
HP:0012823	Clinical modifier	1585	CYP11B2	OMIM:610600
HP:0012823	Clinical modifier	1585	CYP11B2	OMIM:203400
HP:0012823	Clinical modifier	6595	SMARCA2	OMIM:601358
HP:0012823	Clinical modifier	345643	MCIDAS	OMIM:618695
HP:0012823	Clinical modifier	93233	ODAD1	OMIM:615067
HP:0012823	Clinical modifier	27429	HTRA2	OMIM:617248
HP:0012823	Clinical modifier	139212	DNAAF6	OMIM:300991
HP:0012823	Clinical modifier	4728	NDUFS8	OMIM:618222
HP:0012823	Clinical modifier	359	AQP2	OMIM:125800
HP:0012823	Clinical modifier	10102	TSFM	OMIM:610505
HP:0012823	Clinical modifier	128869	PIGU	OMIM:618590
HP:0012823	Clinical modifier	55610	VPS50	OMIM:619685
HP:0012823	Clinical modifier	23114	NFASC	OMIM:618356
HP:0012823	Clinical modifier	126328	NDUFA11	OMIM:618236
HP:0012823	Clinical modifier	6809	STX3	OMIM:619446
HP:0012823	Clinical modifier	4726	NDUFS6	OMIM:618232
HP:0012823	Clinical modifier	5934	RBL2	OMIM:619690
HP:0012823	Clinical modifier	4784	NFIX	OMIM:602535
HP:0012823	Clinical modifier	4784	NFIX	OMIM:614753
HP:0012823	Clinical modifier	3938	LCT	OMIM:223000
HP:0012823	Clinical modifier	4704	NDUFA9	OMIM:618247
HP:0012823	Clinical modifier	513	ATP5F1D	OMIM:618120
HP:0012823	Clinical modifier	11274	USP18	OMIM:617397
HP:0012823	Clinical modifier	6718	AKR1D1	OMIM:235555
HP:0012823	Clinical modifier	439	GET3	OMIM:620203
HP:0012823	Clinical modifier	6821	SUOX	OMIM:272300
HP:0012823	Clinical modifier	23258	DENND5A	OMIM:617281
HP:0012823	Clinical modifier	7161	TP73	OMIM:619466
HP:0012823	Clinical modifier	3674	ITGA2B	OMIM:273800
HP:0012823	Clinical modifier	51241	COX16	OMIM:619355
HP:0012823	Clinical modifier	134218	DNAJC21	OMIM:617052
HP:0012823	Clinical modifier	435	ASL	OMIM:207900
HP:0012823	Clinical modifier	5019	OXCT1	OMIM:245050
HP:0012823	Clinical modifier	1041	CDSN	OMIM:270300
HP:0012823	Clinical modifier	123264	SLC51B	OMIM:619481
HP:0012823	Clinical modifier	283446	MYO1H	OMIM:619482
HP:0012823	Clinical modifier	285590	SH3PXD2B	OMIM:249420
HP:0012823	Clinical modifier	374354	NHLRC2	OMIM:618278
HP:0012823	Clinical modifier	10660	LBX1	OMIM:619483
HP:0012823	Clinical modifier	3557	IL1RN	OMIM:612852
HP:0012823	Clinical modifier	539	ATP5PO	OMIM:620359
HP:0012823	Clinical modifier	55806	HR	OMIM:203655
HP:0012823	Clinical modifier	6554	SLC10A1	OMIM:619256
HP:0012823	Clinical modifier	2203	FBP1	OMIM:229700
HP:0012823	Clinical modifier	383	ARG1	OMIM:207800
HP:0012823	Clinical modifier	6340	SCNN1G	OMIM:620126
HP:0012823	Clinical modifier	3295	HSD17B4	OMIM:261515
HP:0012823	Clinical modifier	875	CBS	OMIM:236200
HP:0012823	Clinical modifier	6338	SCNN1B	OMIM:620125
HP:0012823	Clinical modifier	124093	CCDC78	OMIM:614807
HP:0012823	Clinical modifier	129285	PPP1R21	OMIM:619383
HP:0012823	Clinical modifier	3690	ITGB3	OMIM:619267
HP:0012823	Clinical modifier	1373	CPS1	OMIM:237300
HP:0012823	Clinical modifier	284111	SLC13A5	OMIM:615905
HP:0012823	Clinical modifier	83483	PLVAP	OMIM:618183
HP:0012823	Clinical modifier	85016	CFAP300	OMIM:618063
HP:0012823	Clinical modifier	83538	ODAD4	OMIM:617092
HP:0012823	Clinical modifier	56916	SMARCAD1	OMIM:129200
HP:0012823	Clinical modifier	501	ALDH7A1	OMIM:266100
HP:0012823	Clinical modifier	3141	HLCS	OMIM:253270
HP:0012823	Clinical modifier	5015	OTX2	OMIM:613986
HP:0012823	Clinical modifier	9915	ARNT2	OMIM:615926
HP:0012823	Clinical modifier	79048	SECISBP2	OMIM:609698
HP:0012823	Clinical modifier	6439	SFTPB	OMIM:265120
HP:0012823	Clinical modifier	6005	RHAG	OMIM:185000
HP:0012823	Clinical modifier	64324	NSD1	OMIM:117550
HP:0012823	Clinical modifier	5699	PSMB10	OMIM:619175
HP:0012823	Clinical modifier	92579	G6PC3	OMIM:612541
HP:0012823	Clinical modifier	132158	GLYCTK	OMIM:220120
HP:0012823	Clinical modifier	6999	TDO2	OMIM:600627
HP:0012823	Clinical modifier	50674	NEUROG3	OMIM:610370
HP:0012823	Clinical modifier	84300	UQCC2	OMIM:615824
HP:0012823	Clinical modifier	63894	VIPAS39	OMIM:613404
HP:0012823	Clinical modifier	9152	SLC6A5	OMIM:614618
HP:0012823	Clinical modifier	65109	UPF3B	OMIM:300676
HP:0012823	Clinical modifier	5190	PEX6	OMIM:614862
HP:0012823	Clinical modifier	64446	DNAI2	OMIM:612444
HP:0012823	Clinical modifier	79751	SLC25A22	OMIM:609304
HP:0012823	Clinical modifier	23600	AMACR	OMIM:214950
HP:0012823	Clinical modifier	4306	NR3C2	OMIM:177735
HP:0012823	Clinical modifier	5627	PROS1	OMIM:614514
HP:0012823	Clinical modifier	7355	SLC35A2	OMIM:300896
HP:0012823	Clinical modifier	9928	KIF14	OMIM:617914
HP:0012823	Clinical modifier	1634	DCN	OMIM:610048
HP:0012823	Clinical modifier	8694	DGAT1	OMIM:615863
HP:0012823	Clinical modifier	57017	COQ9	OMIM:614654
HP:0012823	Clinical modifier	57107	PDSS2	OMIM:614652
HP:0012823	Clinical modifier	6664	SOX11	OMIM:615866
HP:0012823	Clinical modifier	54704	PDP1	OMIM:608782
HP:0012823	Clinical modifier	4054	LTBP3	OMIM:617809
HP:0012823	Clinical modifier	7167	TPI1	OMIM:615512
HP:0012823	Clinical modifier	763	CA5A	OMIM:615751
HP:0012823	Clinical modifier	10525	HYOU1	OMIM:233600
HP:0012823	Clinical modifier	54931	TRMT10C	OMIM:616974
HP:0012823	Clinical modifier	169792	GLIS3	OMIM:610199
HP:0012823	Clinical modifier	3033	HADH	OMIM:609975
HP:0012823	Clinical modifier	4594	MMUT	OMIM:251000
HP:0012823	Clinical modifier	8471	IRS4	OMIM:301035
HP:0012823	Clinical modifier	3758	KCNJ1	OMIM:241200
HP:0012823	Clinical modifier	3762	KCNJ5	OMIM:613485
HP:0012823	Clinical modifier	5406	PNLIP	OMIM:614338
HP:0012823	Clinical modifier	7138	TNNT1	OMIM:605355
HP:0012823	Clinical modifier	326625	MMAB	OMIM:251110
HP:0012823	Clinical modifier	80270	HSD3B7	OMIM:607765
HP:0012823	Clinical modifier	11019	LIAS	OMIM:614462
HP:0012823	Clinical modifier	23568	ARL2BP	OMIM:615434
HP:0012823	Clinical modifier	94137	RP1L1	OMIM:618826
HP:0012823	Clinical modifier	7507	XPA	OMIM:278700
HP:0012823	Clinical modifier	200894	ARL13B	OMIM:612291
HP:0012823	Clinical modifier	57570	TRMT5	OMIM:616539
HP:0012823	Clinical modifier	6337	SCNN1A	OMIM:264350
HP:0012823	Clinical modifier	9076	CLDN1	OMIM:607626
HP:0012823	Clinical modifier	95	ACY1	OMIM:609924
HP:0012823	Clinical modifier	10577	NPC2	OMIM:607625
HP:0012823	Clinical modifier	18	ABAT	OMIM:613163
HP:0012823	Clinical modifier	83544	DNAL1	OMIM:614017
HP:0012823	Clinical modifier	4287	ATXN3	OMIM:109150
HP:0012823	Clinical modifier	79581	SLC52A2	OMIM:614707
HP:0012823	Clinical modifier	8566	PDXK	OMIM:618511
HP:0012823	Clinical modifier	56616	DIABLO	OMIM:614152
HP:0012823	Clinical modifier	8722	CTSF	OMIM:615362
HP:0012823	Clinical modifier	10528	NOP56	OMIM:614153
HP:0012823	Clinical modifier	8560	DEGS1	OMIM:618404
HP:0012823	Clinical modifier	215	ABCD1	OMIM:300100
HP:0012823	Clinical modifier	83636	C19orf12	OMIM:614298
HP:0012823	Clinical modifier	4338	MOCS2	OMIM:252160
HP:0012823	Clinical modifier	144165	PRICKLE1	OMIM:612437
HP:0012823	Clinical modifier	79152	FA2H	OMIM:612319
HP:0012823	Clinical modifier	23259	DDHD2	OMIM:615033
HP:0012823	Clinical modifier	8021	NUP214	OMIM:618426
HP:0012823	Clinical modifier	6607	SMN2	OMIM:253400
HP:0012823	Clinical modifier	10908	PNPLA6	OMIM:215470
HP:0012823	Clinical modifier	23503	ZFYVE26	OMIM:270700
HP:0012823	Clinical modifier	6305	SBF1	OMIM:615284
HP:0012823	Clinical modifier	10253	SPRY2	OMIM:616818
HP:0012823	Clinical modifier	10280	SIGMAR1	OMIM:605726
HP:0012823	Clinical modifier	7369	UMOD	OMIM:162000
HP:0012823	Clinical modifier	5604	MAP2K1	OMIM:155950
HP:0012823	Clinical modifier	22906	TRAK1	OMIM:618201
HP:0012823	Clinical modifier	3329	HSPD1	OMIM:605280
HP:0012823	Clinical modifier	1384	CRAT	OMIM:617917
HP:0012823	Clinical modifier	57704	GBA2	OMIM:614409
HP:0012823	Clinical modifier	91574	MTRFR	OMIM:613559
HP:0012823	Clinical modifier	55679	LIMS2	OMIM:616827
HP:0012823	Clinical modifier	79734	KCTD17	OMIM:616398
HP:0012823	Clinical modifier	23064	SETX	OMIM:606002
HP:0012823	Clinical modifier	3912	LAMB1	OMIM:615191
HP:0012823	Clinical modifier	374291	NDUFS7	OMIM:618224
HP:0012823	Clinical modifier	10309	CCNO	OMIM:615872
HP:0012823	Clinical modifier	54832	VPS13C	OMIM:616840
HP:0012823	Clinical modifier	57122	NUP107	OMIM:618348
HP:0012823	Clinical modifier	57122	NUP107	OMIM:616730
HP:0012823	Clinical modifier	6442	SGCA	OMIM:608099
HP:0012823	Clinical modifier	6548	SLC9A1	OMIM:616291
HP:0012823	Clinical modifier	91942	NDUFAF2	OMIM:618233
HP:0012823	Clinical modifier	92667	MGME1	OMIM:615084
HP:0012823	Clinical modifier	8878	SQSTM1	OMIM:617145
HP:0012823	Clinical modifier	8878	SQSTM1	OMIM:616437
HP:0012823	Clinical modifier	80347	COASY	OMIM:615643
HP:0012823	Clinical modifier	1287	COL4A5	OMIM:301050
HP:0012823	Clinical modifier	23218	NBEAL2	OMIM:139090
HP:0012823	Clinical modifier	427	ASAH1	OMIM:159950
HP:0012823	Clinical modifier	427	ASAH1	OMIM:228000
HP:0012823	Clinical modifier	23005	MAPKBP1	OMIM:617271
HP:0012823	Clinical modifier	7019	TFAM	OMIM:617156
HP:0012823	Clinical modifier	3746	KCNC1	OMIM:616187
HP:0012823	Clinical modifier	4361	MRE11	OMIM:604391
HP:0012823	Clinical modifier	9132	KCNQ4	OMIM:600101
HP:0012823	Clinical modifier	51102	MECR	OMIM:617282
HP:0012823	Clinical modifier	9757	KMT2B	OMIM:617284
HP:0012823	Clinical modifier	1814	DRD3	OMIM:190300
HP:0012823	Clinical modifier	4507	MTAP	OMIM:112250
HP:0012823	Clinical modifier	23065	EMC1	OMIM:616875
HP:0012823	Clinical modifier	80736	SLC44A4	OMIM:617606
HP:0012823	Clinical modifier	55697	VAC14	OMIM:617054
HP:0012823	Clinical modifier	56978	PRDM8	OMIM:616640
HP:0012823	Clinical modifier	29927	SEC61A1	OMIM:617056
HP:0012823	Clinical modifier	1285	COL4A3	OMIM:203780
HP:0012823	Clinical modifier	1285	COL4A3	OMIM:104200
HP:0012823	Clinical modifier	1286	COL4A4	OMIM:203780
HP:0012823	Clinical modifier	4337	MOCS1	OMIM:252150
HP:0012823	Clinical modifier	1890	TYMP	OMIM:603041
HP:0012823	Clinical modifier	10613	ERLIN1	OMIM:615681
HP:0012823	Clinical modifier	6253	RTN2	OMIM:604805
HP:0012823	Clinical modifier	9688	NUP93	OMIM:616892
HP:0012823	Clinical modifier	23230	VPS13A	OMIM:200150
HP:0012823	Clinical modifier	3094	HINT1	OMIM:137200
HP:0012823	Clinical modifier	29920	PYCR2	OMIM:616420
HP:0012823	Clinical modifier	8575	PRKRA	OMIM:612067
HP:0012823	Clinical modifier	7515	XRCC1	OMIM:617633
HP:0012823	Clinical modifier	23250	ATP11A	OMIM:619810
HP:0012823	Clinical modifier	79784	MYH14	OMIM:614369
HP:0012823	Clinical modifier	23533	PIK3R5	OMIM:615217
HP:0012823	Clinical modifier	63916	ELMO2	OMIM:606893
HP:0012823	Clinical modifier	84153	RNASEH2C	OMIM:610329
HP:0012823	Clinical modifier	81494	CFHR5	OMIM:614809
HP:0012823	Clinical modifier	8086	AAAS	OMIM:231550
HP:0012823	Clinical modifier	23279	NUP160	OMIM:618178
HP:0012823	Clinical modifier	4093	SMAD9	OMIM:615342
HP:0012823	Clinical modifier	79902	NUP85	OMIM:618176
HP:0012823	Clinical modifier	4643	MYO1E	OMIM:614131
HP:0012823	Clinical modifier	55746	NUP133	OMIM:618177
HP:0012823	Clinical modifier	10749	KIF1C	OMIM:611302
HP:0012823	Clinical modifier	8398	PLA2G6	OMIM:610217
HP:0012823	Clinical modifier	50640	PNPLA8	OMIM:251950
HP:0012823	Clinical modifier	22909	FAN1	OMIM:614817
HP:0012823	Clinical modifier	4099	MAG	OMIM:616680
HP:0012823	Clinical modifier	22880	MORC2	OMIM:616688
HP:0012823	Clinical modifier	4171	MCM2	OMIM:616968
HP:0012823	Clinical modifier	203547	VMA21	OMIM:310440
HP:0012823	Clinical modifier	7003	TEAD1	OMIM:108985
HP:0012823	Clinical modifier	1184	CLCN5	OMIM:308990
HP:0012823	Clinical modifier	10049	DNAJB6	OMIM:603511
HP:0012823	Clinical modifier	729920	CRPPA	OMIM:616052
HP:0012823	Clinical modifier	26011	TENM4	OMIM:616736
HP:0012823	Clinical modifier	90678	LRSAM1	OMIM:614436
HP:0012823	Clinical modifier	9829	DNAJC6	OMIM:615528
HP:0012823	Clinical modifier	51324	SPG21	OMIM:248900
HP:0012823	Clinical modifier	2483	FRG1	OMIM:158900
HP:0012823	Clinical modifier	122622	ADSS1	OMIM:617030
HP:0012823	Clinical modifier	54834	GDAP2	OMIM:618369
HP:0012823	Clinical modifier	2055	CLN8	OMIM:610003
HP:0012823	Clinical modifier	2010	EMD	OMIM:310300
HP:0012823	Clinical modifier	5582	PRKCG	OMIM:605361
HP:0012823	Clinical modifier	2705	GJB1	OMIM:302800
HP:0012823	Clinical modifier	390594	KBTBD13	OMIM:609273
HP:0012823	Clinical modifier	7453	WARS1	OMIM:617721
HP:0012823	Clinical modifier	26090	ABHD12	OMIM:612674
HP:0012823	Clinical modifier	1200	TPP1	OMIM:609270
HP:0012823	Clinical modifier	55157	DARS2	OMIM:611105
HP:0012823	Clinical modifier	28982	FLVCR1	OMIM:609033
HP:0012823	Clinical modifier	10568	SLC34A2	OMIM:265100
HP:0012823	Clinical modifier	65260	COA7	OMIM:618387
HP:0012823	Clinical modifier	8988	HSPB3	OMIM:613376
HP:0012823	Clinical modifier	255928	SYT14	OMIM:614229
HP:0012823	Clinical modifier	2335	FN1	OMIM:601894
HP:0012823	Clinical modifier	81	ACTN4	OMIM:603278
HP:0012823	Clinical modifier	3208	HPCA	OMIM:224500
HP:0012823	Clinical modifier	5375	PMP2	OMIM:618279
HP:0012823	Clinical modifier	26092	TOR1AIP1	OMIM:617072
HP:0012823	Clinical modifier	3300	DNAJB2	OMIM:614881
HP:0012823	Clinical modifier	81545	FBXO38	OMIM:615575
HP:0012823	Clinical modifier	200403	VWA3B	OMIM:616948
HP:0012823	Clinical modifier	25793	FBXO7	OMIM:260300
HP:0012823	Clinical modifier	1337	COX6A1	OMIM:616039
HP:0012823	Clinical modifier	51308	REEP2	OMIM:615625
HP:0012823	Clinical modifier	7827	NPHS2	OMIM:600995
HP:0012823	Clinical modifier	6445	SGCG	OMIM:253700
HP:0012823	Clinical modifier	2896	GRN	OMIM:614706
HP:0012823	Clinical modifier	80331	DNAJC5	OMIM:162350
HP:0012823	Clinical modifier	396	ARHGDIA	OMIM:615244
HP:0012823	Clinical modifier	7957	EPM2A	OMIM:254780
HP:0012823	Clinical modifier	378884	NHLRC1	OMIM:254780
HP:0012823	Clinical modifier	950	SCARB2	OMIM:254900
HP:0012823	Clinical modifier	3859	KRT12	OMIM:122100
HP:0012823	Clinical modifier	55689	YEATS2	OMIM:615127
HP:0012823	Clinical modifier	23562	CLDN14	OMIM:614035
HP:0012823	Clinical modifier	2294	FOXF1	OMIM:265380
HP:0012823	Clinical modifier	4716	NDUFB10	OMIM:619003
HP:0012823	Clinical modifier	23396	PIP5K1C	OMIM:611369
HP:0012823	Clinical modifier	27152	INTU	OMIM:617925
HP:0012823	Clinical modifier	2108	ETFA	OMIM:231680
HP:0012823	Clinical modifier	2109	ETFB	OMIM:231680
HP:0012823	Clinical modifier	2110	ETFDH	OMIM:231680
HP:0012823	Clinical modifier	8772	FADD	OMIM:613759
HP:0012823	Clinical modifier	3155	HMGCL	OMIM:246450
HP:0012823	Clinical modifier	22872	SEC31A	OMIM:618651
HP:0012823	Clinical modifier	5331	PLCB3	OMIM:618961
HP:0012823	Clinical modifier	26503	SLC17A5	OMIM:269920
HP:0012823	Clinical modifier	84833	ATP5MK	OMIM:618683
HP:0012823	Clinical modifier	29960	MRM2	OMIM:618567
HP:0012823	Clinical modifier	9321	TRIP11	OMIM:200600
HP:0012823	Clinical modifier	55165	CEP55	OMIM:236500
HP:0012823	Clinical modifier	219844	HYLS1	OMIM:236680
HP:0012823	Clinical modifier	5447	POR	ORPHA:95699
HP:0012823	Clinical modifier	10203	CALCRL	OMIM:618773
HP:0012823	Clinical modifier	249	ALPL	OMIM:241500
HP:0012823	Clinical modifier	23426	GRIP1	OMIM:617667
HP:0012823	Clinical modifier	79621	RNASEH2B	OMIM:610181
HP:0012823	Clinical modifier	50937	CDON	OMIM:614226
HP:0012823	Clinical modifier	6469	SHH	OMIM:611638
HP:0012823	Clinical modifier	6469	SHH	OMIM:147250
HP:0012823	Clinical modifier	2736	GLI2	OMIM:610829
HP:0012823	Clinical modifier	2736	GLI2	OMIM:615849
HP:0012823	Clinical modifier	55869	HDAC8	OMIM:300882
HP:0012823	Clinical modifier	2138	EYA1	OMIM:602588
HP:0012823	Clinical modifier	284217	LAMA1	OMIM:615960
HP:0012823	Clinical modifier	2561	GABRB2	OMIM:617829
HP:0012823	Clinical modifier	124583	CANT1	OMIM:251450
HP:0012823	Clinical modifier	4512	MT-CO1	OMIM:540000
HP:0012823	Clinical modifier	4513	MT-CO2	OMIM:540000
HP:0012823	Clinical modifier	4514	MT-CO3	OMIM:540000
HP:0012823	Clinical modifier	4519	MT-CYB	OMIM:540000
HP:0012823	Clinical modifier	4511	MT-TC	OMIM:540000
HP:0012823	Clinical modifier	4575	MT-TS2	OMIM:540000
HP:0012823	Clinical modifier	4558	MT-TF	OMIM:540000
HP:0012823	Clinical modifier	4541	MT-ND6	OMIM:540000
HP:0012823	Clinical modifier	4567	MT-TL1	OMIM:540000
HP:0012823	Clinical modifier	4540	MT-ND5	OMIM:540000
HP:0012823	Clinical modifier	4566	MT-TK	OMIM:540000
HP:0012823	Clinical modifier	4535	MT-ND1	OMIM:540000
HP:0012823	Clinical modifier	4572	MT-TQ	OMIM:540000
HP:0012823	Clinical modifier	4577	MT-TV	OMIM:540000
HP:0012823	Clinical modifier	4578	MT-TW	OMIM:540000
HP:0012823	Clinical modifier	7450	VWF	OMIM:613554
HP:0012823	Clinical modifier	91137	SLC25A46	OMIM:616505
HP:0012823	Clinical modifier	5308	PITX2	OMIM:180500
HP:0012823	Clinical modifier	84233	TMEM126A	OMIM:612989
HP:0012823	Clinical modifier	5077	PAX3	OMIM:148820
HP:0012823	Clinical modifier	10804	GJB6	OMIM:129500
HP:0012823	Clinical modifier	1968	EIF2S3	OMIM:300148
HP:0012823	Clinical modifier	3832	KIF11	OMIM:152950
HP:0012823	Clinical modifier	5283	PIGH	OMIM:618010
HP:0012823	Clinical modifier	6524	SLC5A2	OMIM:233100
HP:0012823	Clinical modifier	4352	MPL	ORPHA:71493
HP:0012823	Clinical modifier	7066	THPO	ORPHA:71493
HP:0012823	Clinical modifier	2215	FCGR3B	ORPHA:464370
HP:0012823	Clinical modifier	2022	ENG	OMIM:187300
HP:0012823	Clinical modifier	199713	NLRP7	OMIM:231090
HP:0012823	Clinical modifier	4256	MGP	OMIM:245150
HP:0012823	Clinical modifier	3043	HBB	ORPHA:2133
HP:0012823	Clinical modifier	5346	PLIN1	OMIM:613877
HP:0012823	Clinical modifier	462	SERPINC1	ORPHA:82
HP:0012823	Clinical modifier	7486	WRN	ORPHA:902
HP:0012823	Clinical modifier	4618	MYF6	ORPHA:169189
HP:0012823	Clinical modifier	3209	HOXA13	ORPHA:2438
HP:0012823	Clinical modifier	213	ALB	ORPHA:86816
HP:0012823	Clinical modifier	388015	RTL1	ORPHA:96334
HP:0012823	Clinical modifier	8788	DLK1	ORPHA:96334
HP:0012823	Clinical modifier	55384	MEG3	ORPHA:96334
HP:0012823	Clinical modifier	6006	RHCE	ORPHA:71275
HP:0012823	Clinical modifier	6007	RHD	ORPHA:71275
HP:0012823	Clinical modifier	1351	COX8A	OMIM:619059
HP:0012823	Clinical modifier	149371	EXOC8	OMIM:619076
HP:0012823	Clinical modifier	6304	SATB1	OMIM:619229
HP:0012823	Clinical modifier	10112	KIF20A	OMIM:619433
HP:0012823	Clinical modifier	55388	MCM10	OMIM:619313
HP:0012823	Clinical modifier	201595	STT3B	OMIM:615597
HP:0012823	Clinical modifier	5885	RAD21	OMIM:614701
HP:0012823	Clinical modifier	5396	PRRX1	OMIM:202650
HP:0012823	Clinical modifier	23363	OBSL1	OMIM:612921
HP:0012823	Clinical modifier	1062	CENPE	OMIM:616051
HP:0012823	Clinical modifier	55033	FKBP14	OMIM:614557
HP:0012823	Clinical modifier	10683	DLL3	OMIM:277300
HP:0012823	Clinical modifier	145873	MESP2	OMIM:277300
HP:0012823	Clinical modifier	64175	P3H1	OMIM:610915
HP:0012823	Clinical modifier	1146	CHRNG	OMIM:265000
HP:0012823	Clinical modifier	10606	PAICS	OMIM:619859
HP:0012823	Clinical modifier	64131	XYLT1	OMIM:615777
HP:0012823	Clinical modifier	6045	RNF2	OMIM:619460
HP:0012823	Clinical modifier	6557	SLC12A1	OMIM:601678
HP:0012823	Clinical modifier	80776	B9D2	OMIM:614175
HP:0012823	Clinical modifier	8985	PLOD3	OMIM:612394
HP:0012823	Clinical modifier	4629	MYH11	OMIM:619351
HP:0012823	Clinical modifier	3800	KIF5C	OMIM:615282
HP:0012823	Clinical modifier	25802	LMOD1	OMIM:619362
HP:0012823	Clinical modifier	10293	TRAIP	OMIM:616777
HP:0012823	Clinical modifier	163175	LGI4	OMIM:617468
HP:0012823	Clinical modifier	23169	SLC35D1	OMIM:269250
HP:0012823	Clinical modifier	23007	PLCH1	OMIM:619895
HP:0012823	Clinical modifier	2193	FARSA	OMIM:619013
HP:0012823	Clinical modifier	2146	EZH2	OMIM:277590
HP:0012823	Clinical modifier	5557	PRIM1	OMIM:620005
HP:0012823	Clinical modifier	7473	WNT3	OMIM:273395
HP:0012823	Clinical modifier	7546	ZIC2	OMIM:609637
HP:0012823	Clinical modifier	6654	SOS1	OMIM:610733
HP:0012823	Clinical modifier	282996	RBM20	OMIM:613172
HP:0012823	Clinical modifier	144132	DNHD1	OMIM:619712
HP:0012823	Clinical modifier	148738	HJV	OMIM:602390
HP:0012823	Clinical modifier	308	ANXA5	OMIM:614391
HP:0012823	Clinical modifier	83959	SLC4A11	OMIM:217400
HP:0012823	Clinical modifier	10388	SYCP2	OMIM:258150
HP:0012823	Clinical modifier	8632	DNAH17	OMIM:618643
HP:0012823	Clinical modifier	23370	ARHGEF18	OMIM:617433
HP:0012823	Clinical modifier	84173	ELMOD3	OMIM:619500
HP:0012823	Clinical modifier	199223	TTC21A	OMIM:618429
HP:0012823	Clinical modifier	89869	PLCZ1	OMIM:617214
HP:0012823	Clinical modifier	54456	MOV10L1	OMIM:619878
HP:0012823	Clinical modifier	55823	VPS11	OMIM:619637
HP:0012823	Clinical modifier	9049	AIP	OMIM:102200
HP:0012823	Clinical modifier	150365	MEI1	OMIM:618431
HP:0012823	Clinical modifier	431705	ASTL	OMIM:619643
HP:0012823	Clinical modifier	154197	PNLDC1	OMIM:619528
HP:0012823	Clinical modifier	145645	TERB2	OMIM:619645
HP:0012823	Clinical modifier	283847	TERB1	OMIM:619646
HP:0012823	Clinical modifier	55779	CFAP44	OMIM:617593
HP:0012823	Clinical modifier	80217	CFAP43	OMIM:617592
HP:0012823	Clinical modifier	7867	MAPKAPK3	OMIM:617111
HP:0012823	Clinical modifier	93953	GCNA	OMIM:301077
HP:0012823	Clinical modifier	353116	RILPL1	OMIM:619790
HP:0012823	Clinical modifier	1730	DIAPH2	OMIM:300511
HP:0012823	Clinical modifier	84074	QRICH2	OMIM:618341
HP:0012823	Clinical modifier	335	APOA1	OMIM:618463
HP:0012823	Clinical modifier	11055	ZPBP	OMIM:619799
HP:0012823	Clinical modifier	871	SERPINH1	OMIM:610504
HP:0012823	Clinical modifier	317761	C14orf39	OMIM:619202
HP:0012823	Clinical modifier	122402	TDRD9	OMIM:618110
HP:0012823	Clinical modifier	140801	RPL10L	OMIM:619689
HP:0012823	Clinical modifier	286151	FBXO43	OMIM:619696
HP:0012823	Clinical modifier	71	ACTG1	OMIM:604717
HP:0012823	Clinical modifier	5318	PKP2	OMIM:609040
HP:0012823	Clinical modifier	4635	MYL4	OMIM:617280
HP:0012823	Clinical modifier	6795	AURKC	OMIM:243060
HP:0012823	Clinical modifier	2661	GDF9	OMIM:618014
HP:0012823	Clinical modifier	10149	ADGRG2	OMIM:300985
HP:0012823	Clinical modifier	7225	TRPC6	OMIM:603965
HP:0012823	Clinical modifier	8468	FKBP6	OMIM:620103
HP:0012823	Clinical modifier	140732	SUN5	OMIM:617187
HP:0012823	Clinical modifier	7078	TIMP3	OMIM:136900
HP:0012823	Clinical modifier	144406	CFAP251	OMIM:618152
HP:0012823	Clinical modifier	79983	POF1B	OMIM:300604
HP:0012823	Clinical modifier	401024	FSIP2	OMIM:618153
HP:0012823	Clinical modifier	375307	CATIP	OMIM:619379
HP:0012823	Clinical modifier	283417	DPY19L2	OMIM:613958
HP:0012823	Clinical modifier	1371	CPOX	OMIM:121300
HP:0012823	Clinical modifier	200162	SPAG17	OMIM:619380
HP:0012823	Clinical modifier	2034	EPAS1	OMIM:611783
HP:0012823	Clinical modifier	117144	CATSPER1	OMIM:612997
HP:0012823	Clinical modifier	124404	SEPTIN12	OMIM:614822
HP:0012823	Clinical modifier	24148	PRPF6	OMIM:613983
HP:0012823	Clinical modifier	5498	PPOX	OMIM:176200
HP:0012823	Clinical modifier	678	ZFP36L2	OMIM:620154
HP:0012823	Clinical modifier	57158	JPH2	OMIM:613873
HP:0012823	Clinical modifier	80726	IQCN	OMIM:620170
HP:0012823	Clinical modifier	6691	SPINK2	OMIM:618091
HP:0012823	Clinical modifier	675	BRCA2	OMIM:612555
HP:0012823	Clinical modifier	57055	DAZ2	OMIM:415000
HP:0012823	Clinical modifier	5940	RBMY1A1	OMIM:415000
HP:0012823	Clinical modifier	9082	XKRY	OMIM:415000
HP:0012823	Clinical modifier	57054	DAZ3	OMIM:415000
HP:0012823	Clinical modifier	1617	DAZ1	OMIM:415000
HP:0012823	Clinical modifier	8284	KDM5D	OMIM:415000
HP:0012823	Clinical modifier	442862	PRY2	OMIM:415000
HP:0012823	Clinical modifier	9081	PRY	OMIM:415000
HP:0012823	Clinical modifier	140032	RPS4Y2	OMIM:415000
HP:0012823	Clinical modifier	9426	CDY2A	OMIM:415000
HP:0012823	Clinical modifier	9083	BPY2	OMIM:415000
HP:0012823	Clinical modifier	86614	HSFY1	OMIM:415000
HP:0012823	Clinical modifier	9084	VCY	OMIM:415000
HP:0012823	Clinical modifier	8287	USP9Y	OMIM:415000
HP:0012823	Clinical modifier	9085	CDY1	OMIM:415000
HP:0012823	Clinical modifier	8653	DDX3Y	OMIM:415000
HP:0012823	Clinical modifier	4438	MSH4	OMIM:108420
HP:0012823	Clinical modifier	4438	MSH4	OMIM:619938
HP:0012823	Clinical modifier	56159	TEX11	OMIM:309120
HP:0012823	Clinical modifier	2908	NR3C1	OMIM:615962
HP:0012823	Clinical modifier	6875	TAF4B	OMIM:615841
HP:0012823	Clinical modifier	84225	ZMYND15	OMIM:615842
HP:0012823	Clinical modifier	164045	HFM1	OMIM:615724
HP:0012823	Clinical modifier	10734	STAG3	OMIM:615723
HP:0012823	Clinical modifier	2488	FSHB	OMIM:229070
HP:0012823	Clinical modifier	157855	KCNU1	OMIM:620196
HP:0012823	Clinical modifier	91057	CCDC34	OMIM:620084
HP:0012823	Clinical modifier	219736	STOX1	OMIM:609404
HP:0012823	Clinical modifier	57817	HAMP	OMIM:613313
HP:0012823	Clinical modifier	50511	SYCP3	OMIM:270960
HP:0012823	Clinical modifier	3991	LIPE	OMIM:615980
HP:0012823	Clinical modifier	64788	LMF1	OMIM:246650
HP:0012823	Clinical modifier	93426	SYCE1	OMIM:616950
HP:0012823	Clinical modifier	83552	MFRP	OMIM:611040
HP:0012823	Clinical modifier	56155	TEX14	OMIM:617707
HP:0012823	Clinical modifier	254528	MEIOB	OMIM:617706
HP:0012823	Clinical modifier	128338	DRAM2	OMIM:616502
HP:0012823	Clinical modifier	7784	ZP3	OMIM:617712
HP:0012823	Clinical modifier	22917	ZP1	OMIM:615774
HP:0012823	Clinical modifier	80705	TSGA10	OMIM:617961
HP:0012823	Clinical modifier	56154	TEX15	OMIM:617960
HP:0012823	Clinical modifier	122481	AK7	OMIM:617965
HP:0012823	Clinical modifier	10755	GIPC1	OMIM:618940
HP:0012823	Clinical modifier	5618	PRLR	OMIM:615555
HP:0012823	Clinical modifier	640	BLK	OMIM:613375
HP:0012823	Clinical modifier	2548	GAA	OMIM:232300
HP:0012823	Clinical modifier	1056	CEL	OMIM:609812
HP:0012823	Clinical modifier	84660	CCDC62	OMIM:619803
HP:0012823	Clinical modifier	197135	PATL2	OMIM:617743
HP:0012823	Clinical modifier	151254	C2CD6	OMIM:619805
HP:0012823	Clinical modifier	494551	WEE2	OMIM:617996
HP:0012823	Clinical modifier	116369	SLC26A8	OMIM:606766
HP:0012823	Clinical modifier	4340	MOG	OMIM:614250
HP:0012823	Clinical modifier	26249	KLHL3	OMIM:614495
HP:0012823	Clinical modifier	7305	TYROBP	OMIM:221770
HP:0012823	Clinical modifier	199720	GGN	OMIM:619826
HP:0012823	Clinical modifier	676	BRDT	OMIM:617644
HP:0012823	Clinical modifier	158401	SHOC1	OMIM:619949
HP:0012823	Clinical modifier	5161	PDHA2	OMIM:619828
HP:0012823	Clinical modifier	5184	PEPD	OMIM:170100
HP:0012823	Clinical modifier	56259	CTNNBL1	OMIM:619846
HP:0012823	Clinical modifier	84146	ZNF644	OMIM:614167
HP:0012823	Clinical modifier	3665	IRF7	OMIM:616345
HP:0012823	Clinical modifier	51109	RDH11	OMIM:616108
HP:0012823	Clinical modifier	1594	CYP27B1	OMIM:264700
HP:0012823	Clinical modifier	80739	MPIG6B	OMIM:617441
HP:0012823	Clinical modifier	23086	EXPH5	OMIM:615028
HP:0012823	Clinical modifier	51702	PADI3	OMIM:191480
HP:0012823	Clinical modifier	11081	KERA	OMIM:217300
HP:0012823	Clinical modifier	5146	PDE6C	OMIM:613093
HP:0012823	Clinical modifier	9895	TECPR2	OMIM:615031
HP:0012823	Clinical modifier	3590	IL11RA	OMIM:614188
HP:0012823	Clinical modifier	3026	HABP2	OMIM:188050
HP:0012823	Clinical modifier	4524	MTHFR	OMIM:188050
HP:0012823	Clinical modifier	399	RHOH	OMIM:618307
HP:0012823	Clinical modifier	144811	LACC1	OMIM:618795
HP:0012823	Clinical modifier	3579	CXCR2	OMIM:619407
HP:0012823	Clinical modifier	5966	REL	OMIM:619652
HP:0012823	Clinical modifier	326	AIRE	OMIM:240300
HP:0012823	Clinical modifier	197258	FCSK	OMIM:618324
HP:0012823	Clinical modifier	345193	LRIT3	OMIM:615058
HP:0012823	Clinical modifier	84131	CEP78	OMIM:617236
HP:0012823	Clinical modifier	10459	MAD2L2	OMIM:617243
HP:0012823	Clinical modifier	212	ALAS2	OMIM:300751
HP:0012823	Clinical modifier	212	ALAS2	OMIM:300752
HP:0012823	Clinical modifier	6448	SGSH	OMIM:252900
HP:0012823	Clinical modifier	7062	TCHH	OMIM:617252
HP:0012823	Clinical modifier	9842	PLEKHM1	OMIM:618107
HP:0012823	Clinical modifier	10397	NDRG1	OMIM:601455
HP:0012823	Clinical modifier	55182	RNF220	OMIM:619688
HP:0012823	Clinical modifier	8492	PRSS12	OMIM:249500
HP:0012823	Clinical modifier	331	XIAP	OMIM:308240
HP:0012823	Clinical modifier	4068	SH2D1A	OMIM:308240
HP:0012823	Clinical modifier	153642	ARSK	OMIM:619698
HP:0012823	Clinical modifier	64856	VWA1	OMIM:619216
HP:0012823	Clinical modifier	2155	F7	OMIM:227500
HP:0012823	Clinical modifier	4070	TACSTD2	OMIM:204870
HP:0012823	Clinical modifier	2690	GHR	OMIM:262500
HP:0012823	Clinical modifier	643418	LIPN	OMIM:613943
HP:0012823	Clinical modifier	4773	NFATC2	OMIM:620232
HP:0012823	Clinical modifier	6010	RHO	OMIM:610445
HP:0012823	Clinical modifier	6010	RHO	OMIM:613731
HP:0012823	Clinical modifier	60506	NYX	OMIM:310500
HP:0012823	Clinical modifier	54936	ADPRS	OMIM:618170
HP:0012823	Clinical modifier	284361	EMC10	OMIM:619264
HP:0012823	Clinical modifier	4689	NCF4	OMIM:613960
HP:0012823	Clinical modifier	7424	VEGFC	OMIM:615907
HP:0012823	Clinical modifier	79083	MLPH	OMIM:609227
HP:0012823	Clinical modifier	10461	MERTK	OMIM:613862
HP:0012823	Clinical modifier	3952	LEP	OMIM:614962
HP:0012823	Clinical modifier	1678	TIMM8A	OMIM:304700
HP:0012823	Clinical modifier	80856	LNPK	OMIM:618090
HP:0012823	Clinical modifier	7374	UNG	OMIM:608106
HP:0012823	Clinical modifier	633	BGN	OMIM:300106
HP:0012823	Clinical modifier	3425	IDUA	OMIM:607015
HP:0012823	Clinical modifier	3035	HARS1	OMIM:614504
HP:0012823	Clinical modifier	643226	GRXCR2	OMIM:615837
HP:0012823	Clinical modifier	85452	CFAP74	OMIM:620197
HP:0012823	Clinical modifier	8242	KDM5C	OMIM:300534
HP:0012823	Clinical modifier	1374	CPT1A	OMIM:255120
HP:0012823	Clinical modifier	4942	OAT	OMIM:258870
HP:0012823	Clinical modifier	80184	CEP290	OMIM:610189
HP:0012823	Clinical modifier	406960	MIR184	OMIM:614303
HP:0012823	Clinical modifier	4487	MSX1	OMIM:106600
HP:0012823	Clinical modifier	546	ATRX	OMIM:301040
HP:0012823	Clinical modifier	57379	AICDA	OMIM:605258
HP:0012823	Clinical modifier	84816	RTN4IP1	OMIM:616732
HP:0012823	Clinical modifier	123041	SLC24A4	OMIM:615887
HP:0012823	Clinical modifier	10235	RASGRP2	OMIM:615888
HP:0012823	Clinical modifier	90161	HS6ST2	OMIM:301025
HP:0012823	Clinical modifier	6638	SNRPN	OMIM:209850
HP:0012823	Clinical modifier	931	MS4A1	OMIM:613495
HP:0012823	Clinical modifier	131669	UROC1	OMIM:276880
HP:0012823	Clinical modifier	3514	IGKC	OMIM:614102
HP:0012823	Clinical modifier	23204	ARL6IP1	OMIM:615685
HP:0012823	Clinical modifier	50615	IL21R	OMIM:615207
HP:0012823	Clinical modifier	9371	KIF3B	OMIM:618955
HP:0012823	Clinical modifier	7991	TUSC3	OMIM:611093
HP:0012823	Clinical modifier	112752	IFT43	OMIM:617871
HP:0012823	Clinical modifier	2182	ACSL4	OMIM:300387
HP:0012823	Clinical modifier	83452	RAB33B	OMIM:615222
HP:0012823	Clinical modifier	22948	CCT5	OMIM:256840
HP:0012823	Clinical modifier	8029	CUBN	OMIM:261100
HP:0012823	Clinical modifier	60684	TRAPPC11	OMIM:615356
HP:0012823	Clinical modifier	7552	ZNF711	OMIM:300803
HP:0012823	Clinical modifier	8842	PROM1	OMIM:612095
HP:0012823	Clinical modifier	375790	AGRN	OMIM:615120
HP:0012823	Clinical modifier	25959	KANK2	OMIM:617783
HP:0012823	Clinical modifier	472	ATM	OMIM:208900
HP:0012823	Clinical modifier	80153	EDC3	OMIM:616460
HP:0012823	Clinical modifier	1298	COL9A2	OMIM:614284
HP:0012823	Clinical modifier	1298	COL9A2	OMIM:600204
HP:0012823	Clinical modifier	55214	P3H2	OMIM:614292
HP:0012823	Clinical modifier	5950	RBP4	OMIM:615147
HP:0012823	Clinical modifier	10861	SLC26A1	OMIM:167030
HP:0012823	Clinical modifier	339983	NAT8L	OMIM:614063
HP:0012823	Clinical modifier	25981	DNAH1	OMIM:617577
HP:0012823	Clinical modifier	84062	DTNBP1	OMIM:614076
HP:0012823	Clinical modifier	2742	GLRA2	OMIM:301076
HP:0012823	Clinical modifier	8295	TRRAP	OMIM:618454
HP:0012823	Clinical modifier	84695	LOXL3	OMIM:619781
HP:0012823	Clinical modifier	29127	RACGAP1	OMIM:619789
HP:0012823	Clinical modifier	23111	SPART	OMIM:275900
HP:0012823	Clinical modifier	2235	FECH	OMIM:177000
HP:0012823	Clinical modifier	79879	CCDC134	OMIM:619795
HP:0012823	Clinical modifier	53405	CLIC5	OMIM:616042
HP:0012823	Clinical modifier	9785	DHX38	OMIM:618220
HP:0012823	Clinical modifier	23102	TBC1D2B	OMIM:619323
HP:0012823	Clinical modifier	362	AQP5	OMIM:600231
HP:0012823	Clinical modifier	80224	NUBPL	OMIM:618242
HP:0012823	Clinical modifier	444	ASPH	OMIM:601552
HP:0012823	Clinical modifier	55814	BDP1	OMIM:618257
HP:0012823	Clinical modifier	5158	PDE6B	OMIM:613801
HP:0012823	Clinical modifier	145226	RDH12	OMIM:612712
HP:0012823	Clinical modifier	1300	COL10A1	OMIM:156500
HP:0012823	Clinical modifier	2312	FLG	OMIM:146700
HP:0012823	Clinical modifier	2916	GRM6	OMIM:257270
HP:0012823	Clinical modifier	8701	DNAH11	OMIM:611884
HP:0012823	Clinical modifier	9187	SLC24A1	OMIM:613830
HP:0012823	Clinical modifier	7388	UQCRH	OMIM:620137
HP:0012823	Clinical modifier	6584	SLC22A5	OMIM:212140
HP:0012823	Clinical modifier	7109	TRAPPC10	OMIM:620027
HP:0012823	Clinical modifier	3291	HSD11B2	OMIM:218030
HP:0012823	Clinical modifier	49855	SCAPER	OMIM:618195
HP:0012823	Clinical modifier	221421	RSPH9	OMIM:612650
HP:0012823	Clinical modifier	1137	CHRNA4	OMIM:600513
HP:0012823	Clinical modifier	340024	SLC6A19	OMIM:234500
HP:0012823	Clinical modifier	7187	TRAF3	OMIM:614849
HP:0012823	Clinical modifier	84334	COA8	OMIM:619061
HP:0012823	Clinical modifier	148022	TICAM1	OMIM:614850
HP:0012823	Clinical modifier	338328	GPIHBP1	OMIM:615947
HP:0012823	Clinical modifier	121512	FGD4	OMIM:609311
HP:0012823	Clinical modifier	1576	CYP3A4	OMIM:619073
HP:0012823	Clinical modifier	1267	CNP	OMIM:619071
HP:0012823	Clinical modifier	83394	PITPNM3	OMIM:600977
HP:0012823	Clinical modifier	57709	SLC7A14	OMIM:615725
HP:0012823	Clinical modifier	54862	CC2D1A	OMIM:608443
HP:0012823	Clinical modifier	29851	ICOS	OMIM:607594
HP:0012823	Clinical modifier	11152	WDR45	OMIM:300894
HP:0012823	Clinical modifier	11117	EMILIN1	OMIM:620080
HP:0012823	Clinical modifier	5122	PCSK1	OMIM:600955
HP:0012823	Clinical modifier	5194	PEX13	OMIM:614885
HP:0012823	Clinical modifier	710	SERPING1	OMIM:106100
HP:0012823	Clinical modifier	54413	NLGN3	OMIM:300425
HP:0012823	Clinical modifier	23590	PDSS1	OMIM:614651
HP:0012823	Clinical modifier	6307	MSMO1	OMIM:616834
HP:0012823	Clinical modifier	1261	CNGA3	OMIM:216900
HP:0012823	Clinical modifier	54808	DYM	OMIM:607326
HP:0012823	Clinical modifier	147495	APCDD1	OMIM:605389
HP:0012823	Clinical modifier	5148	PDE6G	OMIM:613582
HP:0012823	Clinical modifier	4297	KMT2A	OMIM:605130
HP:0012823	Clinical modifier	8671	SLC4A4	OMIM:604278
HP:0012823	Clinical modifier	175	AGA	OMIM:208400
HP:0012823	Clinical modifier	93986	FOXP2	OMIM:602081
HP:0012823	Clinical modifier	51002	TPRKB	OMIM:617731
HP:0012823	Clinical modifier	128178	EDARADD	OMIM:224900
HP:0012823	Clinical modifier	10913	EDAR	OMIM:224900
HP:0012823	Clinical modifier	629	CFB	OMIM:615561
HP:0012823	Clinical modifier	1314	COPA	OMIM:616414
HP:0012823	Clinical modifier	6569	SLC34A1	OMIM:613388
HP:0012823	Clinical modifier	57502	NLGN4X	OMIM:300495
HP:0012823	Clinical modifier	4791	NFKB2	OMIM:615577
HP:0012823	Clinical modifier	8815	BANF1	OMIM:614008
HP:0012823	Clinical modifier	7508	XPC	OMIM:278720
HP:0012823	Clinical modifier	10369	CACNG2	OMIM:614256
HP:0012823	Clinical modifier	2582	GALE	OMIM:230350
HP:0012823	Clinical modifier	5265	SERPINA1	OMIM:613490
HP:0012823	Clinical modifier	2100	ESR2	OMIM:618187
HP:0012823	Clinical modifier	3972	LHB	OMIM:228300
HP:0012823	Clinical modifier	3630	INS	OMIM:125852
HP:0012823	Clinical modifier	10371	SEMA3A	OMIM:614897
HP:0012823	Clinical modifier	6640	SNTA1	OMIM:612955
HP:0012823	Clinical modifier	2624	GATA2	OMIM:614172
HP:0012823	Clinical modifier	116085	SLC22A12	OMIM:220150
HP:0012823	Clinical modifier	1593	CYP27A1	OMIM:213700
HP:0012823	Clinical modifier	5961	PRPH2	OMIM:608161
HP:0012823	Clinical modifier	4921	DDR2	OMIM:271665
HP:0012823	Clinical modifier	65992	DDRGK1	OMIM:602557
HP:0012823	Clinical modifier	3376	IARS1	OMIM:617093
HP:0012823	Clinical modifier	3190	HNRNPK	OMIM:616580
HP:0012823	Clinical modifier	4709	NDUFB3	OMIM:618246
HP:0012823	Clinical modifier	100128927	ZBTB42	OMIM:616248
HP:0012823	Clinical modifier	10491	CRTAP	OMIM:610682
HP:0012823	Clinical modifier	55329	MNS1	OMIM:618948
HP:0012823	Clinical modifier	8854	ALDH1A2	OMIM:620025
HP:0012823	Clinical modifier	54361	WNT4	OMIM:611812
HP:0012823	Clinical modifier	5745	PTH1R	OMIM:215045
HP:0012823	Clinical modifier	701	BUB1B	OMIM:257300
HP:0012823	Clinical modifier	222663	SCUBE3	OMIM:619184
HP:0012823	Clinical modifier	80114	BICC1	OMIM:601331
HP:0012823	Clinical modifier	51626	DYNC2LI1	OMIM:617088
HP:0012823	Clinical modifier	9871	SEC24D	OMIM:616294
HP:0012823	Clinical modifier	219854	TMEM218	OMIM:619562
HP:0012823	Clinical modifier	26281	FGF20	OMIM:615721
HP:0012823	Clinical modifier	22858	CILK1	OMIM:612651
HP:0012823	Clinical modifier	56603	CYP26B1	OMIM:614416
HP:0012823	Clinical modifier	2752	GLUL	OMIM:610015
HP:0012823	Clinical modifier	9562	MINPP1	OMIM:619527
HP:0012823	Clinical modifier	1629	DBT	OMIM:248600
HP:0012823	Clinical modifier	593	BCKDHA	OMIM:248600
HP:0012823	Clinical modifier	594	BCKDHB	OMIM:248600
HP:0012823	Clinical modifier	135	ADORA2A	ORPHA:363549
HP:0012823	Clinical modifier	6154	RPL26	OMIM:614900
HP:0012823	Clinical modifier	57211	ADGRG6	OMIM:616503
HP:0012823	Clinical modifier	6616	SNAP25	OMIM:616330
HP:0012823	Clinical modifier	9837	GINS1	OMIM:617827
HP:0012823	Clinical modifier	2271	FH	OMIM:606812
HP:0012823	Clinical modifier	3897	L1CAM	OMIM:304100
HP:0012823	Clinical modifier	11041	B4GAT1	OMIM:615287
HP:0012823	Clinical modifier	4713	NDUFB7	OMIM:620135
HP:0012823	Clinical modifier	6862	TBXT	OMIM:615709
HP:0012823	Clinical modifier	168667	BMPER	OMIM:608022
HP:0012823	Clinical modifier	27183	VPS4A	OMIM:619273
HP:0012823	Clinical modifier	10479	SLC9A6	ORPHA:85278
HP:0012823	Clinical modifier	1471	CST3	ORPHA:100008
HP:0012823	Clinical modifier	6804	STX1A	ORPHA:904
HP:0012823	Clinical modifier	7461	CLIP2	ORPHA:904
HP:0012823	Clinical modifier	5982	RFC2	ORPHA:904
HP:0012823	Clinical modifier	2969	GTF2I	ORPHA:904
HP:0012823	Clinical modifier	3984	LIMK1	ORPHA:904
HP:0012823	Clinical modifier	9569	GTF2IRD1	ORPHA:904
HP:0012823	Clinical modifier	155382	VPS37D	ORPHA:904
HP:0012823	Clinical modifier	155368	METTL27	ORPHA:904
HP:0012823	Clinical modifier	114049	BUD23	ORPHA:904
HP:0012823	Clinical modifier	7458	EIF4H	ORPHA:904
HP:0012823	Clinical modifier	84163	GTF2IRD2	ORPHA:904
HP:0012823	Clinical modifier	9275	BCL7B	ORPHA:904
HP:0012823	Clinical modifier	26608	TBL2	ORPHA:904
HP:0012823	Clinical modifier	135886	TMEM270	ORPHA:904
HP:0012823	Clinical modifier	51085	MLXIPL	ORPHA:904
HP:0012823	Clinical modifier	9031	BAZ1B	ORPHA:904
HP:0012821	Unilateral vocal cord paresis	23498	HAAO	OMIM:617660
HP:0004401	Meconium ileus	6572	SLC18A3	OMIM:617239
HP:0004401	Meconium ileus	2984	GUCY2C	OMIM:614665
HP:0004401	Meconium ileus	6804	STX1A	ORPHA:586
HP:0004401	Meconium ileus	2947	GSTM3	ORPHA:586
HP:0004401	Meconium ileus	7040	TGFB1	ORPHA:586
HP:0004401	Meconium ileus	7040	TGFB1	OMIM:219700
HP:0004401	Meconium ileus	2729	GCLC	ORPHA:586
HP:0004401	Meconium ileus	1084	CEACAM3	ORPHA:586
HP:0004401	Meconium ileus	6556	SLC11A1	ORPHA:586
HP:0004401	Meconium ileus	51164	DCTN4	ORPHA:586
HP:0004401	Meconium ileus	3783	KCNN4	ORPHA:586
HP:0004401	Meconium ileus	4282	MIF	ORPHA:586
HP:0004401	Meconium ileus	1909	EDNRA	ORPHA:586
HP:0004401	Meconium ileus	6550	SLC9A3	ORPHA:586
HP:0004401	Meconium ileus	3162	HMOX1	ORPHA:586
HP:0004401	Meconium ileus	115019	SLC26A9	ORPHA:586
HP:0004401	Meconium ileus	3077	HFE	ORPHA:586
HP:0004401	Meconium ileus	11254	SLC6A14	ORPHA:586
HP:0004401	Meconium ileus	5265	SERPINA1	ORPHA:586
HP:0004401	Meconium ileus	1080	CFTR	ORPHA:586
HP:0004401	Meconium ileus	1080	CFTR	OMIM:219700
HP:0004401	Meconium ileus	22802	CLCA4	ORPHA:586
HP:0004401	Meconium ileus	4680	CEACAM6	ORPHA:586
HP:0004401	Meconium ileus	2212	FCGR2A	OMIM:219700
HP:0002611	Cholestatic liver disease	5551	PRF1	ORPHA:540
HP:0002611	Cholestatic liver disease	8676	STX11	ORPHA:540
HP:0002611	Cholestatic liver disease	201294	UNC13D	ORPHA:540
HP:0002611	Cholestatic liver disease	6813	STXBP2	ORPHA:540
HP:0002611	Cholestatic liver disease	1717	DHCR7	OMIM:270400
HP:0002611	Cholestatic liver disease	3030	HADHA	ORPHA:5
HP:0002611	Cholestatic liver disease	4072	EPCAM	ORPHA:92050
HP:0002611	Cholestatic liver disease	105371045	PERCC1	ORPHA:92050
HP:0002611	Cholestatic liver disease	26276	VPS33B	OMIM:208085
HP:0002611	Cholestatic liver disease	50674	NEUROG3	ORPHA:83620
HP:0002611	Cholestatic liver disease	8565	YARS1	OMIM:619418
HP:0002611	Cholestatic liver disease	1777	DNASE2	OMIM:619858
HP:0002611	Cholestatic liver disease	23600	AMACR	ORPHA:79095
HP:0002611	Cholestatic liver disease	63894	VIPAS39	OMIM:613404
HP:0002611	Cholestatic liver disease	23729	SHPK	ORPHA:440713
HP:0002611	Cholestatic liver disease	84317	CCDC115	OMIM:616828
HP:0002611	Cholestatic liver disease	4853	NOTCH2	OMIM:610205
HP:0002611	Cholestatic liver disease	80270	HSD3B7	ORPHA:79301
HP:0002612	Congenital hepatic fibrosis	84314	TMEM107	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	26123	TCTN3	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79867	TCTN2	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80776	B9D2	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79600	TCTN1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57096	RPGRIP1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79848	CSPP1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80184	CEP290	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80184	CEP290	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	51259	TMEM216	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	OMIM:619111
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	79583	TMEM231	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:84081
HP:0002612	Congenital hepatic fibrosis	79770	TXNDC15	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	27077	B9D1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	23322	RPGRIP1L	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	23322	RPGRIP1L	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	54903	MKS1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	65062	TMEM237	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	55112	DYNC2I1	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	57560	IFT80	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	57539	WDR35	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	79659	DYNC2H1	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	89891	DYNC2I2	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	9742	IFT140	OMIM:266920
HP:0002612	Congenital hepatic fibrosis	30061	SLC40A1	ORPHA:139491
HP:0002612	Congenital hepatic fibrosis	79989	IFT56	OMIM:619534
HP:0002612	Congenital hepatic fibrosis	56623	INPP5E	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	10908	PNPLA6	ORPHA:2377
HP:0002612	Congenital hepatic fibrosis	51473	DCDC2	ORPHA:84081
HP:0002612	Congenital hepatic fibrosis	57817	HAMP	ORPHA:79230
HP:0002612	Congenital hepatic fibrosis	148738	HJV	ORPHA:79230
HP:0002612	Congenital hepatic fibrosis	26146	TRAF3IP1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	9657	IQCB1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	10806	SDCCAG8	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	27130	INVS	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	4867	NPHP1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	261734	NPHP4	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	57728	WDR19	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	27031	NPHP3	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	22897	CEP164	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	3516	RBPJ	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	4851	NOTCH1	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	57514	ARHGAP31	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	57572	DOCK6	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	285203	EOGT	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	54567	DLL4	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	199221	DZIP1L	ORPHA:731
HP:0002612	Congenital hepatic fibrosis	5314	PKHD1	ORPHA:731
HP:0002613	Biliary cirrhosis	27031	NPHP3	OMIM:267010
HP:0002613	Biliary cirrhosis	27031	NPHP3	OMIM:208540
HP:0002613	Biliary cirrhosis	2212	FCGR2A	OMIM:219700
HP:0002613	Biliary cirrhosis	7040	TGFB1	OMIM:219700
HP:0002613	Biliary cirrhosis	1080	CFTR	OMIM:219700
HP:0002613	Biliary cirrhosis	3594	IL12RB1	ORPHA:186
HP:0002613	Biliary cirrhosis	23534	TNPO3	ORPHA:186
HP:0002613	Biliary cirrhosis	3592	IL12A	ORPHA:186
HP:0002613	Biliary cirrhosis	6689	SPIB	ORPHA:186
HP:0002613	Biliary cirrhosis	5450	POU2AF1	ORPHA:186
HP:0002613	Biliary cirrhosis	9966	TNFSF15	ORPHA:186
HP:0002613	Biliary cirrhosis	79258	MMEL1	ORPHA:186
HP:0002613	Biliary cirrhosis	3663	IRF5	ORPHA:186
HP:0002613	Biliary cirrhosis	5244	ABCB4	ORPHA:69663
HP:0002613	Biliary cirrhosis	51473	DCDC2	OMIM:617394
HP:0002613	Biliary cirrhosis	79989	IFT56	OMIM:619534
HP:0002613	Biliary cirrhosis	3930	LBR	OMIM:613471
HP:0002613	Biliary cirrhosis	57539	WDR35	OMIM:613610
HP:0002613	Biliary cirrhosis	3875	KRT18	OMIM:215600
HP:0002613	Biliary cirrhosis	5314	PKHD1	ORPHA:53035
HP:0002614	Hepatic periportal necrosis	2108	ETFA	OMIM:231680
HP:0002614	Hepatic periportal necrosis	2109	ETFB	OMIM:231680
HP:0002614	Hepatic periportal necrosis	2110	ETFDH	OMIM:231680
HP:0002616	Aortic root aneurysm	10526	IPO8	OMIM:619472
HP:0002616	Aortic root aneurysm	1161	ERCC8	ORPHA:90324
HP:0002616	Aortic root aneurysm	2074	ERCC6	ORPHA:90324
HP:0002616	Aortic root aneurysm	490	ATP2B1	OMIM:619910
HP:0002616	Aortic root aneurysm	8854	ALDH1A2	OMIM:620025
HP:0002616	Aortic root aneurysm	4629	MYH11	ORPHA:229
HP:0002616	Aortic root aneurysm	4629	MYH11	ORPHA:91387
HP:0002616	Aortic root aneurysm	81031	SLC2A10	ORPHA:3342
HP:0002616	Aortic root aneurysm	81031	SLC2A10	OMIM:208050
HP:0002616	Aortic root aneurysm	1788	DNMT3A	ORPHA:404443
HP:0002616	Aortic root aneurysm	2200	FBN1	ORPHA:284979
HP:0002616	Aortic root aneurysm	2200	FBN1	OMIM:154700
HP:0002616	Aortic root aneurysm	2200	FBN1	OMIM:616914
HP:0002616	Aortic root aneurysm	2200	FBN1	ORPHA:91387
HP:0002616	Aortic root aneurysm	27125	AFF4	ORPHA:444077
HP:0002616	Aortic root aneurysm	23556	PIGN	ORPHA:280633
HP:0002616	Aortic root aneurysm	1278	COL1A2	ORPHA:230851
HP:0002616	Aortic root aneurysm	1289	COL5A1	OMIM:130000
HP:0002616	Aortic root aneurysm	1289	COL5A1	ORPHA:287
HP:0002616	Aortic root aneurysm	2201	FBN2	OMIM:121050
HP:0002616	Aortic root aneurysm	30008	EFEMP2	OMIM:614437
HP:0002616	Aortic root aneurysm	5500	PPP1CB	OMIM:617506
HP:0002616	Aortic root aneurysm	51726	DNAJB11	ORPHA:730
HP:0002616	Aortic root aneurysm	23193	GANAB	ORPHA:730
HP:0002616	Aortic root aneurysm	5310	PKD1	ORPHA:730
HP:0002616	Aortic root aneurysm	5311	PKD2	ORPHA:730
HP:0002616	Aortic root aneurysm	29880	ALG5	ORPHA:730
HP:0002616	Aortic root aneurysm	9742	IFT140	ORPHA:730
HP:0002616	Aortic root aneurysm	79796	ALG9	ORPHA:730
HP:0002616	Aortic root aneurysm	80114	BICC1	ORPHA:730
HP:0002616	Aortic root aneurysm	126792	B3GALT6	ORPHA:536467
HP:0002616	Aortic root aneurysm	126792	B3GALT6	OMIM:615349
HP:0002616	Aortic root aneurysm	3190	HNRNPK	OMIM:616580
HP:0002616	Aortic root aneurysm	2332	FMR1	ORPHA:449291
HP:0002616	Aortic root aneurysm	84665	MYPN	ORPHA:171881
HP:0002616	Aortic root aneurysm	7169	TPM2	ORPHA:171881
HP:0002616	Aortic root aneurysm	7170	TPM3	ORPHA:171881
HP:0002616	Aortic root aneurysm	165	AEBP1	OMIM:618000
HP:0002616	Aortic root aneurysm	165	AEBP1	ORPHA:536532
HP:0002616	Aortic root aneurysm	3756	KCNH1	OMIM:135500
HP:0002616	Aortic root aneurysm	284058	KANSL1	OMIM:610443
HP:0002616	Aortic root aneurysm	7048	TGFBR2	OMIM:610168
HP:0002616	Aortic root aneurysm	7048	TGFBR2	ORPHA:91387
HP:0002616	Aortic root aneurysm	5238	PGM3	OMIM:615816
HP:0002616	Aortic root aneurysm	1277	COL1A1	ORPHA:287
HP:0002616	Aortic root aneurysm	1290	COL5A2	ORPHA:287
HP:0002616	Aortic root aneurysm	9469	CHST3	OMIM:245600
HP:0002616	Aortic root aneurysm	26229	B3GAT3	OMIM:245600
HP:0002616	Aortic root aneurysm	4883	NPR3	OMIM:619543
HP:0002616	Aortic root aneurysm	633	BGN	OMIM:300989
HP:0002616	Aortic root aneurysm	79576	NKAP	OMIM:301039
HP:0002616	Aortic root aneurysm	4015	LOX	OMIM:617168
HP:0002616	Aortic root aneurysm	4015	LOX	ORPHA:91387
HP:0002616	Aortic root aneurysm	833	CARS1	OMIM:618891
HP:0002616	Aortic root aneurysm	7043	TGFB3	OMIM:615582
HP:0002616	Aortic root aneurysm	7043	TGFB3	ORPHA:91387
HP:0002616	Aortic root aneurysm	54538	ROBO4	OMIM:618496
HP:0002616	Aortic root aneurysm	25	ABL1	OMIM:617602
HP:0002616	Aortic root aneurysm	79875	THSD4	OMIM:619825
HP:0002616	Aortic root aneurysm	4281	MID1	ORPHA:2745
HP:0002616	Aortic root aneurysm	4000	LMNA	ORPHA:363618
HP:0002616	Aortic root aneurysm	23384	SPECC1L	OMIM:145420
HP:0002616	Aortic root aneurysm	7046	TGFBR1	OMIM:609192
HP:0002616	Aortic root aneurysm	7046	TGFBR1	ORPHA:91387
HP:0002616	Aortic root aneurysm	7042	TGFB2	OMIM:614816
HP:0002616	Aortic root aneurysm	7042	TGFB2	ORPHA:91387
HP:0002616	Aortic root aneurysm	4087	SMAD2	ORPHA:91387
HP:0002616	Aortic root aneurysm	4088	SMAD3	ORPHA:91387
HP:0002616	Aortic root aneurysm	4089	SMAD4	ORPHA:91387
HP:0002616	Aortic root aneurysm	59	ACTA2	ORPHA:91387
HP:0002616	Aortic root aneurysm	5592	PRKG1	ORPHA:91387
HP:0002616	Aortic root aneurysm	2301	FOXE3	ORPHA:91387
HP:0002616	Aortic root aneurysm	4144	MAT2A	ORPHA:91387
HP:0002616	Aortic root aneurysm	23493	HEY2	ORPHA:91387
HP:0002616	Aortic root aneurysm	8076	MFAP5	ORPHA:91387
HP:0002616	Aortic root aneurysm	4638	MYLK	ORPHA:91387
HP:0002616	Aortic root aneurysm	2006	ELN	ORPHA:91387
HP:0002616	Aortic root aneurysm	55901	THSD1	ORPHA:231160
HP:0002616	Aortic root aneurysm	7049	TGFBR3	ORPHA:231160
HP:0002616	Aortic root aneurysm	1281	COL3A1	ORPHA:231160
HP:0002616	Aortic root aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0002616	Aortic root aneurysm	2022	ENG	ORPHA:231160
HP:0002617	Vascular dilatation	10526	IPO8	OMIM:619472
HP:0002617	Vascular dilatation	1161	ERCC8	ORPHA:90324
HP:0002617	Vascular dilatation	2074	ERCC6	ORPHA:90324
HP:0002617	Vascular dilatation	490	ATP2B1	OMIM:619910
HP:0002617	Vascular dilatation	8854	ALDH1A2	OMIM:620025
HP:0002617	Vascular dilatation	81031	SLC2A10	ORPHA:3342
HP:0002617	Vascular dilatation	81031	SLC2A10	OMIM:208050
HP:0002617	Vascular dilatation	1788	DNMT3A	ORPHA:404443
HP:0002617	Vascular dilatation	27125	AFF4	ORPHA:444077
HP:0002617	Vascular dilatation	23556	PIGN	ORPHA:280633
HP:0002617	Vascular dilatation	1278	COL1A2	ORPHA:230851
HP:0002617	Vascular dilatation	1289	COL5A1	OMIM:130000
HP:0002617	Vascular dilatation	1289	COL5A1	ORPHA:287
HP:0002617	Vascular dilatation	2201	FBN2	OMIM:121050
HP:0002617	Vascular dilatation	30008	EFEMP2	OMIM:614437
HP:0002617	Vascular dilatation	5500	PPP1CB	OMIM:617506
HP:0002617	Vascular dilatation	51726	DNAJB11	ORPHA:730
HP:0002617	Vascular dilatation	23193	GANAB	ORPHA:730
HP:0002617	Vascular dilatation	5310	PKD1	ORPHA:730
HP:0002617	Vascular dilatation	5311	PKD2	ORPHA:730
HP:0002617	Vascular dilatation	29880	ALG5	ORPHA:730
HP:0002617	Vascular dilatation	9742	IFT140	ORPHA:730
HP:0002617	Vascular dilatation	79796	ALG9	ORPHA:730
HP:0002617	Vascular dilatation	80114	BICC1	ORPHA:730
HP:0002617	Vascular dilatation	3190	HNRNPK	OMIM:616580
HP:0002617	Vascular dilatation	2332	FMR1	ORPHA:449291
HP:0002617	Vascular dilatation	84665	MYPN	ORPHA:171881
HP:0002617	Vascular dilatation	7169	TPM2	ORPHA:171881
HP:0002617	Vascular dilatation	7170	TPM3	ORPHA:171881
HP:0002617	Vascular dilatation	165	AEBP1	OMIM:618000
HP:0002617	Vascular dilatation	165	AEBP1	ORPHA:536532
HP:0002617	Vascular dilatation	284058	KANSL1	OMIM:610443
HP:0002617	Vascular dilatation	5238	PGM3	OMIM:615816
HP:0002617	Vascular dilatation	1277	COL1A1	ORPHA:287
HP:0002617	Vascular dilatation	1290	COL5A2	ORPHA:287
HP:0002617	Vascular dilatation	9469	CHST3	OMIM:245600
HP:0002617	Vascular dilatation	26229	B3GAT3	OMIM:245600
HP:0002617	Vascular dilatation	4883	NPR3	OMIM:619543
HP:0002617	Vascular dilatation	633	BGN	OMIM:300989
HP:0002617	Vascular dilatation	79576	NKAP	OMIM:301039
HP:0002617	Vascular dilatation	833	CARS1	OMIM:618891
HP:0002617	Vascular dilatation	54538	ROBO4	OMIM:618496
HP:0002617	Vascular dilatation	25	ABL1	OMIM:617602
HP:0002617	Vascular dilatation	79875	THSD4	OMIM:619825
HP:0002617	Vascular dilatation	4281	MID1	ORPHA:2745
HP:0002617	Vascular dilatation	4000	LMNA	ORPHA:363618
HP:0002617	Vascular dilatation	23384	SPECC1L	OMIM:145420
HP:0002617	Vascular dilatation	55901	THSD1	ORPHA:231160
HP:0002617	Vascular dilatation	7049	TGFBR3	ORPHA:231160
HP:0002617	Vascular dilatation	1281	COL3A1	ORPHA:231160
HP:0002617	Vascular dilatation	83854	ANGPTL6	ORPHA:231160
HP:0002617	Vascular dilatation	538	ATP7A	ORPHA:198
HP:0002617	Vascular dilatation	538	ATP7A	ORPHA:565
HP:0002617	Vascular dilatation	29927	SEC61A1	OMIM:617056
HP:0002617	Vascular dilatation	8425	LTBP4	OMIM:613177
HP:0002617	Vascular dilatation	57167	SALL4	OMIM:607323
HP:0002617	Vascular dilatation	5781	PTPN11	ORPHA:500
HP:0002617	Vascular dilatation	673	BRAF	ORPHA:500
HP:0002617	Vascular dilatation	5894	RAF1	ORPHA:500
HP:0002617	Vascular dilatation	91147	TMEM67	OMIM:216360
HP:0002617	Vascular dilatation	197131	UBR1	OMIM:243800
HP:0002617	Vascular dilatation	11231	SEC63	ORPHA:2924
HP:0002617	Vascular dilatation	5589	PRKCSH	ORPHA:2924
HP:0002617	Vascular dilatation	4041	LRP5	ORPHA:2924
HP:0002617	Vascular dilatation	8481	OFD1	OMIM:311200
HP:0002617	Vascular dilatation	8481	OFD1	ORPHA:2750
HP:0002617	Vascular dilatation	5573	PRKAR1A	ORPHA:615
HP:0002617	Vascular dilatation	6774	STAT3	ORPHA:2314
HP:0002617	Vascular dilatation	5116	PCNT	ORPHA:2637
HP:0002617	Vascular dilatation	4052	LTBP1	ORPHA:90349
HP:0002617	Vascular dilatation	10516	FBLN5	ORPHA:90349
HP:0002617	Vascular dilatation	57728	WDR19	OMIM:616307
HP:0002617	Vascular dilatation	5921	RASA1	ORPHA:90307
HP:0002617	Vascular dilatation	3593	IL12B	ORPHA:3287
HP:0002617	Vascular dilatation	6945	MLX	ORPHA:3287
HP:0002617	Vascular dilatation	3110	MNX1	OMIM:176450
HP:0002617	Vascular dilatation	5351	PLOD1	ORPHA:1900
HP:0002617	Vascular dilatation	286204	CRB2	OMIM:219730
HP:0002617	Vascular dilatation	54903	MKS1	OMIM:249000
HP:0002617	Vascular dilatation	5087	PBX1	OMIM:617641
HP:0002617	Vascular dilatation	51025	PAM16	OMIM:613320
HP:0002617	Vascular dilatation	6663	SOX10	OMIM:611584
HP:0002617	Vascular dilatation	284119	CAVIN1	OMIM:613327
HP:0002617	Vascular dilatation	4878	NPPA	OMIM:615745
HP:0002617	Vascular dilatation	2050	EPHB4	ORPHA:1053
HP:0002617	Vascular dilatation	5167	ENPP1	ORPHA:758
HP:0002617	Vascular dilatation	368	ABCC6	ORPHA:758
HP:0002617	Vascular dilatation	5193	PEX12	OMIM:614859
HP:0002617	Vascular dilatation	375	ARF1	ORPHA:98892
HP:0002617	Vascular dilatation	4131	MAP1B	ORPHA:98892
HP:0002617	Vascular dilatation	23327	NEDD4L	ORPHA:98892
HP:0002617	Vascular dilatation	160418	TMTC3	ORPHA:98892
HP:0002617	Vascular dilatation	10564	ARFGEF2	ORPHA:98892
HP:0002617	Vascular dilatation	55780	ERMARD	ORPHA:98892
HP:0002617	Vascular dilatation	54453	RIN2	OMIM:613075
HP:0002617	Vascular dilatation	54453	RIN2	ORPHA:217335
HP:0002617	Vascular dilatation	23118	TAB2	OMIM:614980
HP:0002617	Vascular dilatation	29957	SLC25A24	OMIM:612289
HP:0002617	Vascular dilatation	3458	IFNG	ORPHA:805
HP:0002617	Vascular dilatation	7248	TSC1	ORPHA:805
HP:0002617	Vascular dilatation	7249	TSC2	ORPHA:805
HP:0002617	Vascular dilatation	7139	TNNT2	OMIM:612422
HP:0002617	Vascular dilatation	3081	HGD	OMIM:203500
HP:0002617	Vascular dilatation	5728	PTEN	ORPHA:109
HP:0002617	Vascular dilatation	4621	MYH3	ORPHA:2990
HP:0002617	Vascular dilatation	1146	CHRNG	ORPHA:2990
HP:0002617	Vascular dilatation	64127	NOD2	ORPHA:90340
HP:0002617	Vascular dilatation	64324	NSD1	ORPHA:821
HP:0002617	Vascular dilatation	29072	SETD2	ORPHA:821
HP:0002617	Vascular dilatation	10297	APC2	ORPHA:821
HP:0002617	Vascular dilatation	51611	DPH5	OMIM:620070
HP:0002617	Vascular dilatation	10743	RAI1	ORPHA:477817
HP:0002617	Vascular dilatation	2317	FLNB	OMIM:150250
HP:0002617	Vascular dilatation	4854	NOTCH3	OMIM:130720
HP:0002617	Vascular dilatation	613	BCR	ORPHA:261330
HP:0002617	Vascular dilatation	1399	CRKL	ORPHA:261330
HP:0002617	Vascular dilatation	5594	MAPK1	ORPHA:261330
HP:0002617	Vascular dilatation	10535	RNASEH2A	ORPHA:51
HP:0002617	Vascular dilatation	84153	RNASEH2C	ORPHA:51
HP:0002617	Vascular dilatation	25939	SAMHD1	ORPHA:51
HP:0002617	Vascular dilatation	79621	RNASEH2B	ORPHA:51
HP:0002617	Vascular dilatation	103	ADAR	ORPHA:51
HP:0002617	Vascular dilatation	11277	TREX1	ORPHA:51
HP:0002617	Vascular dilatation	100147744	RNU7-1	ORPHA:51
HP:0002617	Vascular dilatation	134353	LSM11	ORPHA:51
HP:0002617	Vascular dilatation	64135	IFIH1	ORPHA:51
HP:0002617	Vascular dilatation	113246	C12orf57	OMIM:218340
HP:0002617	Vascular dilatation	6772	STAT1	ORPHA:391487
HP:0002617	Vascular dilatation	10043	TOM1	ORPHA:391487
HP:0002617	Vascular dilatation	6711	SPTBN1	OMIM:619475
HP:0002617	Vascular dilatation	2548	GAA	OMIM:232300
HP:0002617	Vascular dilatation	1282	COL4A1	OMIM:611773
HP:0002617	Vascular dilatation	10056	FARSB	OMIM:613658
HP:0002617	Vascular dilatation	4796	TONSL	ORPHA:93357
HP:0002617	Vascular dilatation	2677	GGCX	ORPHA:91135
HP:0002617	Vascular dilatation	8985	PLOD3	OMIM:612394
HP:0002617	Vascular dilatation	4763	NF1	ORPHA:97685
HP:0002617	Vascular dilatation	50940	PDE11A	ORPHA:1359
HP:0002617	Vascular dilatation	10269	ZMPSTE24	ORPHA:1662
HP:0002617	Vascular dilatation	9968	MED12	OMIM:309520
HP:0002617	Vascular dilatation	171019	ADAMTS19	OMIM:620067
HP:0002617	Vascular dilatation	4838	NODAL	OMIM:270100
HP:0002617	Vascular dilatation	2972	BRF1	ORPHA:444072
HP:0002617	Vascular dilatation	2702	GJA5	OMIM:612474
HP:0002617	Vascular dilatation	2703	GJA8	OMIM:612474
HP:0002617	Vascular dilatation	523	ATP6V1A	OMIM:617403
HP:0002617	Vascular dilatation	26191	PTPN22	ORPHA:397
HP:0002617	Vascular dilatation	3106	HLA-B	ORPHA:397
HP:0002617	Vascular dilatation	3123	HLA-DRB1	ORPHA:397
HP:0002617	Vascular dilatation	8974	P4HA2	ORPHA:397
HP:0002617	Vascular dilatation	5592	PRKG1	OMIM:615436
HP:0002617	Vascular dilatation	5592	PRKG1	ORPHA:91387
HP:0002617	Vascular dilatation	286053	NSMCE2	OMIM:617253
HP:0002617	Vascular dilatation	7046	TGFBR1	ORPHA:91387
HP:0002617	Vascular dilatation	7043	TGFB3	ORPHA:91387
HP:0002617	Vascular dilatation	7042	TGFB2	ORPHA:91387
HP:0002617	Vascular dilatation	4089	SMAD4	ORPHA:91387
HP:0002617	Vascular dilatation	2200	FBN1	ORPHA:91387
HP:0002617	Vascular dilatation	2301	FOXE3	ORPHA:91387
HP:0002617	Vascular dilatation	4144	MAT2A	ORPHA:91387
HP:0002617	Vascular dilatation	23493	HEY2	ORPHA:91387
HP:0002617	Vascular dilatation	4638	MYLK	ORPHA:91387
HP:0002617	Vascular dilatation	3756	KCNH1	OMIM:135500
HP:0002617	Vascular dilatation	7048	TGFBR2	OMIM:610168
HP:0002617	Vascular dilatation	6804	STX1A	ORPHA:904
HP:0002617	Vascular dilatation	7461	CLIP2	ORPHA:904
HP:0002617	Vascular dilatation	84277	DNAJC30	ORPHA:904
HP:0002617	Vascular dilatation	8468	FKBP6	ORPHA:904
HP:0002617	Vascular dilatation	5982	RFC2	ORPHA:904
HP:0002617	Vascular dilatation	2969	GTF2I	ORPHA:904
HP:0002617	Vascular dilatation	3984	LIMK1	ORPHA:904
HP:0002617	Vascular dilatation	9569	GTF2IRD1	ORPHA:904
HP:0002617	Vascular dilatation	155382	VPS37D	ORPHA:904
HP:0002617	Vascular dilatation	155368	METTL27	ORPHA:904
HP:0002617	Vascular dilatation	114049	BUD23	ORPHA:904
HP:0002617	Vascular dilatation	7458	EIF4H	ORPHA:904
HP:0002617	Vascular dilatation	84163	GTF2IRD2	ORPHA:904
HP:0002617	Vascular dilatation	9275	BCL7B	ORPHA:904
HP:0002617	Vascular dilatation	26608	TBL2	ORPHA:904
HP:0002617	Vascular dilatation	653361	NCF1	ORPHA:904
HP:0002617	Vascular dilatation	135886	TMEM270	ORPHA:904
HP:0002617	Vascular dilatation	51085	MLXIPL	ORPHA:904
HP:0002617	Vascular dilatation	9031	BAZ1B	ORPHA:904
HP:0002617	Vascular dilatation	2006	ELN	ORPHA:904
HP:0002617	Vascular dilatation	4851	NOTCH1	ORPHA:402075
HP:0002617	Vascular dilatation	1482	NKX2-5	ORPHA:402075
HP:0002617	Vascular dilatation	140628	GATA5	ORPHA:402075
HP:0002617	Vascular dilatation	4091	SMAD6	ORPHA:402075
HP:0002617	Vascular dilatation	5590	PRKCZ	ORPHA:1606
HP:0002617	Vascular dilatation	2563	GABRD	ORPHA:1606
HP:0002617	Vascular dilatation	23013	SPEN	ORPHA:1606
HP:0002617	Vascular dilatation	8510	MMP23B	ORPHA:1606
HP:0002617	Vascular dilatation	7798	LUZP1	ORPHA:1606
HP:0002617	Vascular dilatation	6497	SKI	ORPHA:1606
HP:0002617	Vascular dilatation	10630	PDPN	ORPHA:1606
HP:0002617	Vascular dilatation	3339	HSPG2	ORPHA:1606
HP:0002617	Vascular dilatation	10277	UBE4B	ORPHA:1606
HP:0002617	Vascular dilatation	8514	KCNAB2	ORPHA:1606
HP:0002617	Vascular dilatation	473	RERE	ORPHA:1606
HP:0002617	Vascular dilatation	63976	PRDM16	ORPHA:1606
HP:0002617	Vascular dilatation	54897	CASZ1	ORPHA:1606
HP:0002617	Vascular dilatation	55636	CHD7	ORPHA:138
HP:0002617	Vascular dilatation	9723	SEMA3E	ORPHA:138
HP:0002617	Vascular dilatation	5318	PKP2	OMIM:609040
HP:0002617	Vascular dilatation	5832	ALDH18A1	ORPHA:90348
HP:0002617	Vascular dilatation	54820	NDE1	ORPHA:2177
HP:0002617	Vascular dilatation	29925	GMPPB	ORPHA:363623
HP:0002617	Vascular dilatation	6134	RPL10	ORPHA:459070
HP:0002617	Vascular dilatation	54914	FOCAD	OMIM:619991
HP:0002617	Vascular dilatation	2316	FLNA	OMIM:304120
HP:0002617	Vascular dilatation	2022	ENG	OMIM:187300
HP:0002617	Vascular dilatation	126792	B3GALT6	ORPHA:536467
HP:0002617	Vascular dilatation	4629	MYH11	OMIM:619351
HP:0002617	Vascular dilatation	4629	MYH11	OMIM:132900
HP:0002617	Vascular dilatation	4015	LOX	OMIM:617168
HP:0002617	Vascular dilatation	8076	MFAP5	OMIM:616166
HP:0002617	Vascular dilatation	4088	SMAD3	OMIM:613795
HP:0002617	Vascular dilatation	4087	SMAD2	OMIM:619656
HP:0002617	Vascular dilatation	4087	SMAD2	OMIM:619657
HP:0002617	Vascular dilatation	59	ACTA2	OMIM:613834
HP:0002617	Vascular dilatation	59	ACTA2	OMIM:611788
HP:0002617	Vascular dilatation	2131	EXT1	ORPHA:321
HP:0002617	Vascular dilatation	2132	EXT2	ORPHA:321
HP:0002619	Varicose veins	1281	COL3A1	OMIM:130050
HP:0002619	Varicose veins	1281	COL3A1	OMIM:618343
HP:0002619	Varicose veins	1281	COL3A1	ORPHA:286
HP:0002619	Varicose veins	7428	VHL	OMIM:263400
HP:0002619	Varicose veins	2629	GBA1	ORPHA:2072
HP:0002619	Varicose veins	9158	FIBP	ORPHA:500095
HP:0002619	Varicose veins	9158	FIBP	OMIM:617107
HP:0002619	Varicose veins	9780	PIEZO1	OMIM:616843
HP:0002619	Varicose veins	92579	G6PC3	OMIM:612541
HP:0002619	Varicose veins	4088	SMAD3	OMIM:613795
HP:0002619	Varicose veins	4087	SMAD2	OMIM:619656
HP:0002619	Varicose veins	5921	RASA1	ORPHA:90307
HP:0002619	Varicose veins	2303	FOXC2	ORPHA:33001
HP:0002619	Varicose veins	2303	FOXC2	OMIM:153400
HP:0002619	Varicose veins	2050	EPHB4	ORPHA:90186
HP:0002619	Varicose veins	2050	EPHB4	OMIM:617300
HP:0002619	Varicose veins	1312	COMT	ORPHA:567
HP:0002619	Varicose veins	221037	JMJD1C	ORPHA:567
HP:0002619	Varicose veins	2812	GP1BB	ORPHA:567
HP:0002619	Varicose veins	6239	RREB1	ORPHA:567
HP:0002619	Varicose veins	6899	TBX1	ORPHA:567
HP:0002619	Varicose veins	7290	HIRA	ORPHA:567
HP:0002619	Varicose veins	9632	SEC24C	ORPHA:567
HP:0002619	Varicose veins	7353	UFD1	ORPHA:567
HP:0002619	Varicose veins	421	ARVCF	ORPHA:567
HP:0002619	Varicose veins	55315	SLC29A3	OMIM:602782
HP:0002619	Varicose veins	55315	SLC29A3	ORPHA:168569
HP:0002619	Varicose veins	3798	KIF5A	ORPHA:100991
HP:0002619	Varicose veins	5290	PIK3CA	OMIM:613089
HP:0002619	Varicose veins	2324	FLT4	ORPHA:79452
HP:0002619	Varicose veins	57165	GJC2	ORPHA:79452
HP:0002619	Varicose veins	165	AEBP1	ORPHA:536532
HP:0002619	Varicose veins	1188	CLCNKB	ORPHA:358
HP:0002619	Varicose veins	6559	SLC12A3	ORPHA:358
HP:0002619	Varicose veins	4854	NOTCH3	OMIM:125310
HP:0002619	Varicose veins	2022	ENG	OMIM:187300
HP:0011004	Abnormal systemic arterial morphology	5167	ENPP1	ORPHA:51608
HP:0011004	Abnormal systemic arterial morphology	368	ABCC6	ORPHA:51608
HP:0011004	Abnormal systemic arterial morphology	84168	ANTXR1	OMIM:230740
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:180000
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:611773
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:175780
HP:0011004	Abnormal systemic arterial morphology	6804	STX1A	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	7461	CLIP2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	84277	DNAJC30	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	8468	FKBP6	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	5982	RFC2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	2969	GTF2I	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	3984	LIMK1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	9569	GTF2IRD1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	155382	VPS37D	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	155368	METTL27	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	114049	BUD23	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	7458	EIF4H	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	84163	GTF2IRD2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	9275	BCL7B	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	26608	TBL2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	653361	NCF1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	135886	TMEM270	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	9031	BAZ1B	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	4693	NDP	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	4041	LRP5	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	8322	FZD4	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	4508	MT-ATP6	ORPHA:644
HP:0011004	Abnormal systemic arterial morphology	1312	COMT	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	221037	JMJD1C	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	2812	GP1BB	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	6239	RREB1	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	7290	HIRA	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	9632	SEC24C	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	7353	UFD1	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	421	ARVCF	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	336	APOA2	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	2053	EPHX2	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	10842	PPP1R17	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	2690	GHR	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	5468	PPARG	ORPHA:79083
HP:0011004	Abnormal systemic arterial morphology	2099	ESR1	ORPHA:785
HP:0011004	Abnormal systemic arterial morphology	57592	ZNF687	OMIM:616833
HP:0011004	Abnormal systemic arterial morphology	6910	TBX5	ORPHA:392
HP:0011004	Abnormal systemic arterial morphology	23556	PIGN	ORPHA:2059
HP:0011004	Abnormal systemic arterial morphology	9759	HDAC4	ORPHA:1001
HP:0011004	Abnormal systemic arterial morphology	64359	NXN	ORPHA:1507
HP:0011004	Abnormal systemic arterial morphology	4920	ROR2	ORPHA:1507
HP:0011004	Abnormal systemic arterial morphology	672	BRCA1	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	10459	MAD2L2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	7516	XRCC2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	29089	UBE2T	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	675	BRCA2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55120	FANCL	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2177	FANCD2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2175	FANCA	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2176	FANCC	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2178	FANCE	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2188	FANCF	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2189	FANCG	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	5888	RAD51	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	5889	RAD51C	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55159	RFWD3	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	83990	BRIP1	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	57697	FANCM	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	79728	PALB2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	84464	SLX4	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55215	FANCI	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	23592	LEMD3	ORPHA:1306
HP:0011004	Abnormal systemic arterial morphology	2626	GATA4	ORPHA:251071
HP:0011004	Abnormal systemic arterial morphology	22827	PUF60	ORPHA:508498
HP:0011004	Abnormal systemic arterial morphology	22827	PUF60	ORPHA:508488
HP:0011004	Abnormal systemic arterial morphology	10128	LRPPRC	OMIM:220111
HP:0011004	Abnormal systemic arterial morphology	123606	NIPA1	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	7283	TUBG1	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	81614	NIPA2	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	2187	FANCB	OMIM:300514
HP:0011004	Abnormal systemic arterial morphology	1024	CDK8	OMIM:618748
HP:0011004	Abnormal systemic arterial morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011004	Abnormal systemic arterial morphology	132	ADK	OMIM:614300
HP:0011004	Abnormal systemic arterial morphology	79813	EHMT1	ORPHA:96147
HP:0011004	Abnormal systemic arterial morphology	64220	STRA6	OMIM:601186
HP:0011004	Abnormal systemic arterial morphology	6888	TALDO1	ORPHA:101028
HP:0011004	Abnormal systemic arterial morphology	6888	TALDO1	OMIM:606003
HP:0011004	Abnormal systemic arterial morphology	7707	ZNF148	OMIM:617260
HP:0011004	Abnormal systemic arterial morphology	10847	SRCAP	OMIM:136140
HP:0011004	Abnormal systemic arterial morphology	10847	SRCAP	ORPHA:2044
HP:0011004	Abnormal systemic arterial morphology	89910	UBE3B	OMIM:244450
HP:0011004	Abnormal systemic arterial morphology	55784	MCTP2	ORPHA:1596
HP:0011004	Abnormal systemic arterial morphology	8085	KMT2D	ORPHA:2322
HP:0011004	Abnormal systemic arterial morphology	8085	KMT2D	OMIM:147920
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	ORPHA:2322
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	OMIM:300867
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	OMIM:147920
HP:0011004	Abnormal systemic arterial morphology	5053	PAH	ORPHA:2209
HP:0011004	Abnormal systemic arterial morphology	7547	ZIC3	OMIM:306955
HP:0011004	Abnormal systemic arterial morphology	10735	STAG2	OMIM:301022
HP:0011004	Abnormal systemic arterial morphology	1956	EGFR	OMIM:616069
HP:0011004	Abnormal systemic arterial morphology	146862	UNC45B	OMIM:619178
HP:0011004	Abnormal systemic arterial morphology	1108	CHD4	OMIM:617159
HP:0011004	Abnormal systemic arterial morphology	7026	NR2F2	OMIM:615779
HP:0011004	Abnormal systemic arterial morphology	51057	WDPCP	OMIM:217085
HP:0011004	Abnormal systemic arterial morphology	1000	CDH2	OMIM:618929
HP:0011004	Abnormal systemic arterial morphology	4313	MMP2	ORPHA:371428
HP:0011004	Abnormal systemic arterial morphology	4323	MMP14	ORPHA:371428
HP:0011004	Abnormal systemic arterial morphology	1717	DHCR7	OMIM:270400
HP:0011004	Abnormal systemic arterial morphology	9839	ZEB2	ORPHA:261552
HP:0011004	Abnormal systemic arterial morphology	9839	ZEB2	ORPHA:261537
HP:0011004	Abnormal systemic arterial morphology	9184	BUB3	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	699	BUB1	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	9702	CEP57	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	9702	CEP57	OMIM:614114
HP:0011004	Abnormal systemic arterial morphology	9319	TRIP13	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	701	BUB1B	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	4212	MEIS2	OMIM:600987
HP:0011004	Abnormal systemic arterial morphology	1822	ATN1	OMIM:618494
HP:0011004	Abnormal systemic arterial morphology	25	ABL1	OMIM:617602
HP:0011004	Abnormal systemic arterial morphology	139285	AMER1	ORPHA:2780
HP:0011004	Abnormal systemic arterial morphology	55644	OSGEP	OMIM:617729
HP:0011004	Abnormal systemic arterial morphology	5826	ABCD4	OMIM:614857
HP:0011004	Abnormal systemic arterial morphology	8883	NAE1	OMIM:620210
HP:0011004	Abnormal systemic arterial morphology	2313	FLI1	ORPHA:2308
HP:0011004	Abnormal systemic arterial morphology	10664	CTCF	ORPHA:363611
HP:0011004	Abnormal systemic arterial morphology	10664	CTCF	OMIM:615502
HP:0011004	Abnormal systemic arterial morphology	65250	CPLANE1	OMIM:277170
HP:0011004	Abnormal systemic arterial morphology	4893	NRAS	OMIM:163200
HP:0011004	Abnormal systemic arterial morphology	3265	HRAS	OMIM:163200
HP:0011004	Abnormal systemic arterial morphology	83475	DOHH	OMIM:620066
HP:0011004	Abnormal systemic arterial morphology	11198	SUPT16H	OMIM:619480
HP:0011004	Abnormal systemic arterial morphology	28514	DLL1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2253	FGF8	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6496	SIX3	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	7050	TGIF1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6469	SHH	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	7546	ZIC2	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6491	STIL	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2619	GAS1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	84976	DISP1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2736	GLI2	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	8928	FOXH1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	5727	PTCH1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	50937	CDON	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	57057	TBX20	OMIM:611363
HP:0011004	Abnormal systemic arterial morphology	5500	PPP1CB	OMIM:617506
HP:0011004	Abnormal systemic arterial morphology	4625	MYH7	OMIM:613426
HP:0011004	Abnormal systemic arterial morphology	51322	WAC	ORPHA:284169
HP:0011004	Abnormal systemic arterial morphology	84231	TRAF7	OMIM:618164
HP:0011004	Abnormal systemic arterial morphology	23483	TGDS	OMIM:616145
HP:0011004	Abnormal systemic arterial morphology	5236	PGM1	OMIM:614921
HP:0011004	Abnormal systemic arterial morphology	9939	RBM8A	OMIM:274000
HP:0011004	Abnormal systemic arterial morphology	6595	SMARCA2	OMIM:601358
HP:0011004	Abnormal systemic arterial morphology	51626	DYNC2LI1	OMIM:617088
HP:0011004	Abnormal systemic arterial morphology	8295	TRRAP	OMIM:618454
HP:0011004	Abnormal systemic arterial morphology	54903	MKS1	OMIM:249000
HP:0011004	Abnormal systemic arterial morphology	4281	MID1	ORPHA:2745
HP:0011004	Abnormal systemic arterial morphology	6736	SRY	ORPHA:1772
HP:0011004	Abnormal systemic arterial morphology	6655	SOS2	OMIM:616559
HP:0011004	Abnormal systemic arterial morphology	5604	MAP2K1	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	5781	PTPN11	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	673	BRAF	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	3081	HGD	ORPHA:56
HP:0011004	Abnormal systemic arterial morphology	3081	HGD	OMIM:203500
HP:0011004	Abnormal systemic arterial morphology	55249	YY1AP1	OMIM:602531
HP:0011004	Abnormal systemic arterial morphology	4763	NF1	OMIM:162200
HP:0011004	Abnormal systemic arterial morphology	4763	NF1	ORPHA:97685
HP:0011004	Abnormal systemic arterial morphology	9896	FIG4	ORPHA:3472
HP:0011004	Abnormal systemic arterial morphology	55697	VAC14	ORPHA:3472
HP:0011004	Abnormal systemic arterial morphology	55654	TMEM127	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	5979	RET	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	6390	SDHB	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	6392	SDHD	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	4149	MAX	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	7428	VHL	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	50628	GEMIN4	OMIM:617913
HP:0011004	Abnormal systemic arterial morphology	182	JAG1	OMIM:118450
HP:0011004	Abnormal systemic arterial morphology	51085	MLXIPL	OMIM:194050
HP:0011004	Abnormal systemic arterial morphology	5456	POU3F4	ORPHA:1435
HP:0011004	Abnormal systemic arterial morphology	6575	SLC20A2	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	5155	PDGFB	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	5159	PDGFRB	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	490	ATP2B1	OMIM:619910
HP:0011004	Abnormal systemic arterial morphology	1788	DNMT3A	ORPHA:404443
HP:0011004	Abnormal systemic arterial morphology	27125	AFF4	ORPHA:444077
HP:0011004	Abnormal systemic arterial morphology	1278	COL1A2	ORPHA:230851
HP:0011004	Abnormal systemic arterial morphology	84665	MYPN	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	7169	TPM2	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	7170	TPM3	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	5238	PGM3	OMIM:615816
HP:0011004	Abnormal systemic arterial morphology	9469	CHST3	OMIM:245600
HP:0011004	Abnormal systemic arterial morphology	26229	B3GAT3	OMIM:245600
HP:0011004	Abnormal systemic arterial morphology	4883	NPR3	OMIM:619543
HP:0011004	Abnormal systemic arterial morphology	79576	NKAP	OMIM:301039
HP:0011004	Abnormal systemic arterial morphology	833	CARS1	OMIM:618891
HP:0011004	Abnormal systemic arterial morphology	23384	SPECC1L	OMIM:145420
HP:0011004	Abnormal systemic arterial morphology	8815	BANF1	OMIM:614008
HP:0011004	Abnormal systemic arterial morphology	7840	ALMS1	OMIM:203800
HP:0011004	Abnormal systemic arterial morphology	91754	NEK9	OMIM:617022
HP:0011004	Abnormal systemic arterial morphology	23395	LARS2	OMIM:617021
HP:0011004	Abnormal systemic arterial morphology	1349	COX7B	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	3052	HCCS	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	54539	NDUFB11	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	2263	FGFR2	OMIM:101200
HP:0011004	Abnormal systemic arterial morphology	78987	CRELD1	OMIM:606217
HP:0011004	Abnormal systemic arterial morphology	2068	ERCC2	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	2073	ERCC5	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	2072	ERCC4	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	2071	ERCC3	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	847	CAT	ORPHA:926
HP:0011004	Abnormal systemic arterial morphology	50485	SMARCAL1	OMIM:242900
HP:0011004	Abnormal systemic arterial morphology	4907	NT5E	ORPHA:289601
HP:0011004	Abnormal systemic arterial morphology	6309	SC5D	OMIM:607330
HP:0011004	Abnormal systemic arterial morphology	3931	LCAT	OMIM:245900
HP:0011004	Abnormal systemic arterial morphology	5294	PIK3CG	OMIM:619802
HP:0011004	Abnormal systemic arterial morphology	1439	CSF2RB	ORPHA:264675
HP:0011004	Abnormal systemic arterial morphology	1438	CSF2RA	ORPHA:264675
HP:0011004	Abnormal systemic arterial morphology	3123	HLA-DRB1	ORPHA:747
HP:0011004	Abnormal systemic arterial morphology	6609	SMPD1	OMIM:607616
HP:0011004	Abnormal systemic arterial morphology	6609	SMPD1	OMIM:257200
HP:0011004	Abnormal systemic arterial morphology	3988	LIPA	OMIM:278000
HP:0011004	Abnormal systemic arterial morphology	3988	LIPA	ORPHA:75233
HP:0011004	Abnormal systemic arterial morphology	10577	NPC2	OMIM:607625
HP:0011004	Abnormal systemic arterial morphology	4864	NPC1	OMIM:257220
HP:0011004	Abnormal systemic arterial morphology	4758	NEU1	OMIM:256550
HP:0011004	Abnormal systemic arterial morphology	1593	CYP27A1	ORPHA:909
HP:0011004	Abnormal systemic arterial morphology	3949	LDLR	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	255738	PCSK9	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	26119	LDLRAP1	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	338	APOB	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	64240	ABCG5	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	64241	ABCG8	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	7148	TNXB	ORPHA:230839
HP:0011004	Abnormal systemic arterial morphology	4000	LMNA	ORPHA:280365
HP:0011004	Abnormal systemic arterial morphology	4000	LMNA	OMIM:176670
HP:0011004	Abnormal systemic arterial morphology	116519	APOA5	OMIM:145750
HP:0011004	Abnormal systemic arterial morphology	1071	CETP	ORPHA:79506
HP:0011004	Abnormal systemic arterial morphology	345	APOC3	ORPHA:79506
HP:0011004	Abnormal systemic arterial morphology	4023	LPL	OMIM:238600
HP:0011004	Abnormal systemic arterial morphology	3053	SERPIND1	OMIM:612356
HP:0011004	Abnormal systemic arterial morphology	54538	ROBO4	OMIM:618496
HP:0011004	Abnormal systemic arterial morphology	351	APP	OMIM:605714
HP:0011004	Abnormal systemic arterial morphology	5832	ALDH18A1	OMIM:616603
HP:0011004	Abnormal systemic arterial morphology	375	ARF1	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	4131	MAP1B	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	23327	NEDD4L	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	160418	TMTC3	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	10564	ARFGEF2	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	55780	ERMARD	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	284058	KANSL1	ORPHA:363958
HP:0011004	Abnormal systemic arterial morphology	284058	KANSL1	ORPHA:363965
HP:0011004	Abnormal systemic arterial morphology	54453	RIN2	OMIM:613075
HP:0011004	Abnormal systemic arterial morphology	54453	RIN2	ORPHA:217335
HP:0011004	Abnormal systemic arterial morphology	23118	TAB2	OMIM:614980
HP:0011004	Abnormal systemic arterial morphology	29957	SLC25A24	OMIM:612289
HP:0011004	Abnormal systemic arterial morphology	3458	IFNG	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7248	TSC1	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7249	TSC2	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7139	TNNT2	OMIM:612422
HP:0011004	Abnormal systemic arterial morphology	5728	PTEN	ORPHA:109
HP:0011004	Abnormal systemic arterial morphology	4621	MYH3	ORPHA:2990
HP:0011004	Abnormal systemic arterial morphology	1146	CHRNG	ORPHA:2990
HP:0011004	Abnormal systemic arterial morphology	64127	NOD2	ORPHA:90340
HP:0011004	Abnormal systemic arterial morphology	3190	HNRNPK	ORPHA:352665
HP:0011004	Abnormal systemic arterial morphology	3190	HNRNPK	ORPHA:453504
HP:0011004	Abnormal systemic arterial morphology	64324	NSD1	ORPHA:821
HP:0011004	Abnormal systemic arterial morphology	29072	SETD2	ORPHA:821
HP:0011004	Abnormal systemic arterial morphology	10297	APC2	ORPHA:821
HP:0011004	Abnormal systemic arterial morphology	51611	DPH5	OMIM:620070
HP:0011004	Abnormal systemic arterial morphology	10743	RAI1	ORPHA:477817
HP:0011004	Abnormal systemic arterial morphology	2317	FLNB	OMIM:150250
HP:0011004	Abnormal systemic arterial morphology	613	BCR	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	1399	CRKL	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	5594	MAPK1	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	113246	C12orf57	OMIM:218340
HP:0011004	Abnormal systemic arterial morphology	2201	FBN2	ORPHA:115
HP:0011004	Abnormal systemic arterial morphology	64131	XYLT1	OMIM:264800
HP:0011004	Abnormal systemic arterial morphology	64132	XYLT2	OMIM:264800
HP:0011004	Abnormal systemic arterial morphology	63036	CELA2A	OMIM:618620
HP:0011004	Abnormal systemic arterial morphology	6711	SPTBN1	OMIM:619475
HP:0011004	Abnormal systemic arterial morphology	2548	GAA	OMIM:232300
HP:0011004	Abnormal systemic arterial morphology	10056	FARSB	OMIM:613658
HP:0011004	Abnormal systemic arterial morphology	5589	PRKCSH	OMIM:174050
HP:0011004	Abnormal systemic arterial morphology	4796	TONSL	ORPHA:93357
HP:0011004	Abnormal systemic arterial morphology	2677	GGCX	ORPHA:91135
HP:0011004	Abnormal systemic arterial morphology	8985	PLOD3	OMIM:612394
HP:0011004	Abnormal systemic arterial morphology	5573	PRKAR1A	ORPHA:615
HP:0011004	Abnormal systemic arterial morphology	5573	PRKAR1A	ORPHA:1359
HP:0011004	Abnormal systemic arterial morphology	50940	PDE11A	ORPHA:1359
HP:0011004	Abnormal systemic arterial morphology	4352	MPL	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	7066	THPO	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	3717	JAK2	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	3423	IDS	ORPHA:217085
HP:0011004	Abnormal systemic arterial morphology	3423	IDS	ORPHA:217093
HP:0011004	Abnormal systemic arterial morphology	189	AGXT	OMIM:259900
HP:0011004	Abnormal systemic arterial morphology	30008	EFEMP2	OMIM:614437
HP:0011004	Abnormal systemic arterial morphology	4851	NOTCH1	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	1482	NKX2-5	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	140628	GATA5	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	2629	GBA1	OMIM:231005
HP:0011004	Abnormal systemic arterial morphology	2629	GBA1	ORPHA:2072
HP:0011004	Abnormal systemic arterial morphology	4091	SMAD6	OMIM:614823
HP:0011004	Abnormal systemic arterial morphology	10568	SLC34A2	ORPHA:60025
HP:0011004	Abnormal systemic arterial morphology	2332	FMR1	ORPHA:908
HP:0011004	Abnormal systemic arterial morphology	9968	MED12	OMIM:309520
HP:0011004	Abnormal systemic arterial morphology	3593	IL12B	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	3106	HLA-B	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	6945	MLX	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	171019	ADAMTS19	OMIM:620067
HP:0011004	Abnormal systemic arterial morphology	4838	NODAL	OMIM:270100
HP:0011004	Abnormal systemic arterial morphology	10516	FBLN5	OMIM:219100
HP:0011004	Abnormal systemic arterial morphology	2972	BRF1	ORPHA:444072
HP:0011004	Abnormal systemic arterial morphology	633	BGN	OMIM:300989
HP:0011004	Abnormal systemic arterial morphology	2702	GJA5	OMIM:612474
HP:0011004	Abnormal systemic arterial morphology	2703	GJA8	OMIM:612474
HP:0011004	Abnormal systemic arterial morphology	79875	THSD4	OMIM:619825
HP:0011004	Abnormal systemic arterial morphology	523	ATP6V1A	OMIM:617403
HP:0011004	Abnormal systemic arterial morphology	26191	PTPN22	ORPHA:397
HP:0011004	Abnormal systemic arterial morphology	8974	P4HA2	ORPHA:397
HP:0011004	Abnormal systemic arterial morphology	286053	NSMCE2	OMIM:617253
HP:0011004	Abnormal systemic arterial morphology	3756	KCNH1	OMIM:135500
HP:0011004	Abnormal systemic arterial morphology	5590	PRKCZ	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	2563	GABRD	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	23013	SPEN	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	8510	MMP23B	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	7798	LUZP1	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	6497	SKI	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	10630	PDPN	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	3339	HSPG2	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	10277	UBE4B	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	8514	KCNAB2	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	473	RERE	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	63976	PRDM16	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	54897	CASZ1	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	9149	DYRK1B	OMIM:615812
HP:0011004	Abnormal systemic arterial morphology	57104	PNPLA2	ORPHA:565612
HP:0011004	Abnormal systemic arterial morphology	2737	GLI3	OMIM:146510
HP:0011004	Abnormal systemic arterial morphology	5745	PTH1R	OMIM:215045
HP:0011004	Abnormal systemic arterial morphology	7486	WRN	OMIM:277700
HP:0011004	Abnormal systemic arterial morphology	3990	LIPC	ORPHA:140905
HP:0011004	Abnormal systemic arterial morphology	335	APOA1	OMIM:618463
HP:0011004	Abnormal systemic arterial morphology	335	APOA1	ORPHA:425
HP:0011004	Abnormal systemic arterial morphology	1161	ERCC8	ORPHA:90324
HP:0011004	Abnormal systemic arterial morphology	2074	ERCC6	ORPHA:90324
HP:0011004	Abnormal systemic arterial morphology	19	ABCA1	OMIM:604091
HP:0011004	Abnormal systemic arterial morphology	19	ABCA1	ORPHA:425
HP:0011004	Abnormal systemic arterial morphology	84984	CEP19	OMIM:615703
HP:0011004	Abnormal systemic arterial morphology	338328	GPIHBP1	OMIM:615947
HP:0011004	Abnormal systemic arterial morphology	4205	MEF2A	OMIM:608320
HP:0011004	Abnormal systemic arterial morphology	4040	LRP6	OMIM:610947
HP:0011004	Abnormal systemic arterial morphology	3198	HOXA1	OMIM:601536
HP:0011004	Abnormal systemic arterial morphology	2720	GLB1	OMIM:253010
HP:0011004	Abnormal systemic arterial morphology	1277	COL1A1	ORPHA:287
HP:0011004	Abnormal systemic arterial morphology	1290	COL5A2	ORPHA:287
HP:0011004	Abnormal systemic arterial morphology	5351	PLOD1	ORPHA:1900
HP:0011004	Abnormal systemic arterial morphology	7703	PCGF2	OMIM:618371
HP:0011004	Abnormal systemic arterial morphology	1289	COL5A1	OMIM:619329
HP:0011004	Abnormal systemic arterial morphology	538	ATP7A	OMIM:304150
HP:0011004	Abnormal systemic arterial morphology	10526	IPO8	OMIM:619472
HP:0011004	Abnormal systemic arterial morphology	64135	IFIH1	OMIM:182250
HP:0011004	Abnormal systemic arterial morphology	4010	LMX1B	ORPHA:2614
HP:0011004	Abnormal systemic arterial morphology	55901	THSD1	OMIM:618734
HP:0011004	Abnormal systemic arterial morphology	55901	THSD1	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	5310	PKD1	OMIM:173900
HP:0011004	Abnormal systemic arterial morphology	7049	TGFBR3	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	83854	ANGPTL6	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	2022	ENG	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	85465	SELENOI	ORPHA:506353
HP:0011004	Abnormal systemic arterial morphology	4514	MT-CO3	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4519	MT-CYB	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4541	MT-ND6	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4540	MT-ND5	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4539	MT-ND4L	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4535	MT-ND1	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4536	MT-ND2	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4538	MT-ND4	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4750	NEK1	ORPHA:2751
HP:0011004	Abnormal systemic arterial morphology	2161	F12	ORPHA:330
HP:0011004	Abnormal systemic arterial morphology	7287	TULP1	OMIM:600132
HP:0011004	Abnormal systemic arterial morphology	9129	PRPF3	OMIM:601414
HP:0011004	Abnormal systemic arterial morphology	7439	BEST1	OMIM:193220
HP:0011004	Abnormal systemic arterial morphology	79796	ALG9	ORPHA:79328
HP:0011004	Abnormal systemic arterial morphology	54820	NDE1	ORPHA:2177
HP:0011004	Abnormal systemic arterial morphology	427	ASAH1	ORPHA:333
HP:0011004	Abnormal systemic arterial morphology	427	ASAH1	OMIM:228000
HP:0011004	Abnormal systemic arterial morphology	5476	CTSA	ORPHA:351
HP:0011004	Abnormal systemic arterial morphology	5476	CTSA	OMIM:256540
HP:0011004	Abnormal systemic arterial morphology	3074	HEXB	ORPHA:309155
HP:0011004	Abnormal systemic arterial morphology	3074	HEXB	OMIM:268800
HP:0011004	Abnormal systemic arterial morphology	2581	GALC	ORPHA:206436
HP:0011004	Abnormal systemic arterial morphology	5660	PSAP	ORPHA:206436
HP:0011004	Abnormal systemic arterial morphology	79583	TMEM231	ORPHA:2752
HP:0011004	Abnormal systemic arterial morphology	3073	HEXA	OMIM:272800
HP:0011004	Abnormal systemic arterial morphology	1615	DARS1	OMIM:615281
HP:0011004	Abnormal systemic arterial morphology	2760	GM2A	ORPHA:309246
HP:0011004	Abnormal systemic arterial morphology	10730	YME1L1	OMIM:617302
HP:0011004	Abnormal systemic arterial morphology	1387	CREBBP	OMIM:180849
HP:0011004	Abnormal systemic arterial morphology	1387	CREBBP	ORPHA:353277
HP:0011004	Abnormal systemic arterial morphology	1387	CREBBP	ORPHA:353281
HP:0011004	Abnormal systemic arterial morphology	2033	EP300	OMIM:180849
HP:0011004	Abnormal systemic arterial morphology	2033	EP300	ORPHA:353284
HP:0011004	Abnormal systemic arterial morphology	5296	PIK3R2	OMIM:603387
HP:0011004	Abnormal systemic arterial morphology	9894	TELO2	OMIM:616954
HP:0011004	Abnormal systemic arterial morphology	51726	DNAJB11	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	23193	GANAB	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	5311	PKD2	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	29880	ALG5	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	9742	IFT140	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	80114	BICC1	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	4052	LTBP1	ORPHA:90349
HP:0011004	Abnormal systemic arterial morphology	659	BMPR2	OMIM:178600
HP:0011004	Abnormal systemic arterial morphology	5337	PLD1	OMIM:212093
HP:0011004	Abnormal systemic arterial morphology	2627	GATA6	OMIM:600001
HP:0011004	Abnormal systemic arterial morphology	2627	GATA6	ORPHA:2255
HP:0011004	Abnormal systemic arterial morphology	745	MYRF	OMIM:618280
HP:0011004	Abnormal systemic arterial morphology	129563	DIS3L2	OMIM:267000
HP:0011004	Abnormal systemic arterial morphology	2294	FOXF1	OMIM:265380
HP:0011004	Abnormal systemic arterial morphology	6899	TBX1	OMIM:188400
HP:0011004	Abnormal systemic arterial morphology	6899	TBX1	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	6899	TBX1	ORPHA:1727
HP:0011004	Abnormal systemic arterial morphology	4613	MYCN	ORPHA:391641
HP:0011004	Abnormal systemic arterial morphology	4613	MYCN	OMIM:164280
HP:0011004	Abnormal systemic arterial morphology	8802	SUCLG1	ORPHA:17
HP:0011004	Abnormal systemic arterial morphology	56006	SMG9	OMIM:616920
HP:0011004	Abnormal systemic arterial morphology	54916	TMEM260	OMIM:617478
HP:0011004	Abnormal systemic arterial morphology	2260	FGFR1	ORPHA:2396
HP:0011004	Abnormal systemic arterial morphology	3845	KRAS	ORPHA:2396
HP:0011004	Abnormal systemic arterial morphology	9993	DGCR2	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	8220	ESS2	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	8214	DGCR6	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	54487	DGCR8	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	118856	MMP21	OMIM:616749
HP:0011004	Abnormal systemic arterial morphology	55636	CHD7	ORPHA:138
HP:0011004	Abnormal systemic arterial morphology	9723	SEMA3E	ORPHA:138
HP:0011004	Abnormal systemic arterial morphology	8216	LZTR1	OMIM:605275
HP:0011004	Abnormal systemic arterial morphology	55191	NADSYN1	OMIM:618845
HP:0011004	Abnormal systemic arterial morphology	100128908	CIROP	OMIM:619702
HP:0011004	Abnormal systemic arterial morphology	137814	NKX2-6	ORPHA:3384
HP:0011004	Abnormal systemic arterial morphology	23129	PLXND1	ORPHA:3384
HP:0011004	Abnormal systemic arterial morphology	8496	PPFIBP1	OMIM:620024
HP:0011004	Abnormal systemic arterial morphology	4088	SMAD3	ORPHA:284984
HP:0011004	Abnormal systemic arterial morphology	4088	SMAD3	OMIM:613795
HP:0011004	Abnormal systemic arterial morphology	2316	FLNA	OMIM:304120
HP:0011004	Abnormal systemic arterial morphology	7086	TKT	ORPHA:488618
HP:0011004	Abnormal systemic arterial morphology	57674	RNF213	OMIM:607151
HP:0011004	Abnormal systemic arterial morphology	4774	NFIA	ORPHA:401986
HP:0011004	Abnormal systemic arterial morphology	5116	PCNT	OMIM:210720
HP:0011004	Abnormal systemic arterial morphology	79184	BRCC3	ORPHA:280679
HP:0011004	Abnormal systemic arterial morphology	10535	RNASEH2A	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	84153	RNASEH2C	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	25939	SAMHD1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	79621	RNASEH2B	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	103	ADAR	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	11277	TREX1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	100147744	RNU7-1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	134353	LSM11	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	2982	GUCY1A1	ORPHA:401945
HP:0011004	Abnormal systemic arterial morphology	2982	GUCY1A1	OMIM:615750
HP:0011004	Abnormal systemic arterial morphology	7490	WT1	OMIM:608978
HP:0011004	Abnormal systemic arterial morphology	80232	WDR26	ORPHA:513456
HP:0011004	Abnormal systemic arterial morphology	80232	WDR26	OMIM:617616
HP:0011004	Abnormal systemic arterial morphology	1770	DNAH9	OMIM:618300
HP:0011004	Abnormal systemic arterial morphology	79989	IFT56	OMIM:619534
HP:0011004	Abnormal systemic arterial morphology	25981	DNAH1	OMIM:617577
HP:0011004	Abnormal systemic arterial morphology	93	ACVR2B	OMIM:613751
HP:0011004	Abnormal systemic arterial morphology	220136	CFAP53	OMIM:614779
HP:0011004	Abnormal systemic arterial morphology	10992	SF3B2	OMIM:164210
HP:0011004	Abnormal systemic arterial morphology	10525	HYOU1	OMIM:233600
HP:0011004	Abnormal systemic arterial morphology	7317	UBA1	OMIM:301054
HP:0011004	Abnormal systemic arterial morphology	81031	SLC2A10	OMIM:208050
HP:0011004	Abnormal systemic arterial morphology	51473	DCDC2	ORPHA:84081
HP:0011004	Abnormal systemic arterial morphology	91147	TMEM67	ORPHA:84081
HP:0011004	Abnormal systemic arterial morphology	7048	TGFBR2	OMIM:610168
HP:0011004	Abnormal systemic arterial morphology	7048	TGFBR2	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	6772	STAT1	ORPHA:391487
HP:0011004	Abnormal systemic arterial morphology	10043	TOM1	ORPHA:391487
HP:0011004	Abnormal systemic arterial morphology	7046	TGFBR1	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	7043	TGFB3	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	7042	TGFB2	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4089	SMAD4	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	2200	FBN1	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	2301	FOXE3	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4144	MAT2A	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	23493	HEY2	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4638	MYLK	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	2006	ELN	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4629	MYH11	OMIM:132900
HP:0011004	Abnormal systemic arterial morphology	388015	RTL1	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	8788	DLK1	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	55384	MEG3	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	54880	BCOR	OMIM:300166
HP:0011004	Abnormal systemic arterial morphology	6885	MAP3K7	OMIM:157800
HP:0011004	Abnormal systemic arterial morphology	2697	GJA1	ORPHA:2248
HP:0011004	Abnormal systemic arterial morphology	2783	GNB2	OMIM:619503
HP:0011004	Abnormal systemic arterial morphology	5518	PPP2R1A	ORPHA:457284
HP:0011004	Abnormal systemic arterial morphology	10195	ALG3	ORPHA:79321
HP:0011004	Abnormal systemic arterial morphology	348	APOE	ORPHA:412
HP:0011004	Abnormal systemic arterial morphology	1581	CYP7A1	ORPHA:209902
HP:0011004	Abnormal systemic arterial morphology	10269	ZMPSTE24	ORPHA:740
HP:0011004	Abnormal systemic arterial morphology	11117	EMILIN1	OMIM:620080
HP:0011004	Abnormal systemic arterial morphology	126792	B3GALT6	ORPHA:536467
HP:0011004	Abnormal systemic arterial morphology	4015	LOX	OMIM:617168
HP:0011004	Abnormal systemic arterial morphology	8076	MFAP5	OMIM:616166
HP:0011004	Abnormal systemic arterial morphology	4087	SMAD2	OMIM:619656
HP:0011004	Abnormal systemic arterial morphology	4087	SMAD2	OMIM:619657
HP:0011004	Abnormal systemic arterial morphology	59	ACTA2	OMIM:613834
HP:0011004	Abnormal systemic arterial morphology	59	ACTA2	OMIM:611788
HP:0011004	Abnormal systemic arterial morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011004	Abnormal systemic arterial morphology	6135	RPL11	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6138	RPL15	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6229	RPS24	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6125	RPL5	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6204	RPS10	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6224	RPS20	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6165	RPL35A	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	2623	GATA1	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6223	RPS19	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6232	RPS27	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6231	RPS26	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	11224	RPL35	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6160	RPL31	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6218	RPS17	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6201	RPS7	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6155	RPL27	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6154	RPL26	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6210	RPS15A	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	90121	TSR2	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6141	RPL18	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6235	RPS29	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6234	RPS28	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	51816	ADA2	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	2202	EFEMP1	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	1545	CYP1B1	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	4653	MYOC	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	3490	IGFBP7	OMIM:614224
HP:0011004	Abnormal systemic arterial morphology	51434	ANAPC7	OMIM:619699
HP:0011004	Abnormal systemic arterial morphology	5592	PRKG1	OMIM:615436
HP:0011004	Abnormal systemic arterial morphology	1656	DDX6	OMIM:618653
HP:0011004	Abnormal systemic arterial morphology	5293	PIK3CD	ORPHA:221139
HP:0011004	Abnormal systemic arterial morphology	90417	KNSTRN	ORPHA:221139
HP:0011004	Abnormal systemic arterial morphology	1281	COL3A1	OMIM:130050
HP:0011004	Abnormal systemic arterial morphology	55033	FKBP14	OMIM:614557
HP:0011004	Abnormal systemic arterial morphology	7528	YY1	OMIM:617557
HP:0011004	Abnormal systemic arterial morphology	168507	PKD1L1	OMIM:617205
HP:0011004	Abnormal systemic arterial morphology	8854	ALDH1A2	OMIM:620025
HP:0011004	Abnormal systemic arterial morphology	2324	FLT4	OMIM:618780
HP:0011004	Abnormal systemic arterial morphology	2657	GDF1	OMIM:208530
HP:0011004	Abnormal systemic arterial morphology	84667	HES7	OMIM:613686
HP:0011004	Abnormal systemic arterial morphology	4854	NOTCH3	ORPHA:136
HP:0011004	Abnormal systemic arterial morphology	2767	GNA11	ORPHA:1556
HP:0011004	Abnormal systemic arterial morphology	151188	ARL6IP6	ORPHA:1556
HP:0011004	Abnormal systemic arterial morphology	5654	HTRA1	OMIM:600142
HP:0011004	Abnormal systemic arterial morphology	165	AEBP1	ORPHA:536532
HP:0011004	Abnormal systemic arterial morphology	165	AEBP1	OMIM:618000
HP:0011004	Abnormal systemic arterial morphology	6651	SON	ORPHA:500150
HP:0002621	Atherosclerosis	336	APOA2	OMIM:143890
HP:0002621	Atherosclerosis	2053	EPHX2	OMIM:143890
HP:0002621	Atherosclerosis	10842	PPP1R17	OMIM:143890
HP:0002621	Atherosclerosis	2690	GHR	OMIM:143890
HP:0002621	Atherosclerosis	4629	MYH11	OMIM:132900
HP:0002621	Atherosclerosis	4629	MYH11	ORPHA:229
HP:0002621	Atherosclerosis	4629	MYH11	ORPHA:91387
HP:0002621	Atherosclerosis	79184	BRCC3	ORPHA:280679
HP:0002621	Atherosclerosis	2099	ESR1	ORPHA:785
HP:0002621	Atherosclerosis	57104	PNPLA2	ORPHA:565612
HP:0002621	Atherosclerosis	4015	LOX	OMIM:617168
HP:0002621	Atherosclerosis	4015	LOX	ORPHA:91387
HP:0002621	Atherosclerosis	57592	ZNF687	OMIM:616833
HP:0002621	Atherosclerosis	7046	TGFBR1	ORPHA:91387
HP:0002621	Atherosclerosis	7048	TGFBR2	ORPHA:91387
HP:0002621	Atherosclerosis	4087	SMAD2	ORPHA:91387
HP:0002621	Atherosclerosis	7043	TGFB3	ORPHA:91387
HP:0002621	Atherosclerosis	4088	SMAD3	ORPHA:91387
HP:0002621	Atherosclerosis	7042	TGFB2	ORPHA:91387
HP:0002621	Atherosclerosis	4089	SMAD4	ORPHA:91387
HP:0002621	Atherosclerosis	2200	FBN1	ORPHA:91387
HP:0002621	Atherosclerosis	5592	PRKG1	ORPHA:91387
HP:0002621	Atherosclerosis	2301	FOXE3	ORPHA:91387
HP:0002621	Atherosclerosis	4144	MAT2A	ORPHA:91387
HP:0002621	Atherosclerosis	23493	HEY2	ORPHA:91387
HP:0002621	Atherosclerosis	8076	MFAP5	ORPHA:91387
HP:0002621	Atherosclerosis	4638	MYLK	ORPHA:91387
HP:0002621	Atherosclerosis	2006	ELN	ORPHA:91387
HP:0002621	Atherosclerosis	5468	PPARG	ORPHA:79083
HP:0002621	Atherosclerosis	8815	BANF1	OMIM:614008
HP:0002621	Atherosclerosis	2677	GGCX	OMIM:610842
HP:0002621	Atherosclerosis	2677	GGCX	ORPHA:91135
HP:0002621	Atherosclerosis	7840	ALMS1	OMIM:203800
HP:0002621	Atherosclerosis	7486	WRN	ORPHA:902
HP:0002621	Atherosclerosis	189	AGXT	ORPHA:93598
HP:0002621	Atherosclerosis	3081	HGD	ORPHA:56
HP:0002621	Atherosclerosis	10269	ZMPSTE24	ORPHA:740
HP:0002621	Atherosclerosis	50485	SMARCAL1	ORPHA:1830
HP:0002621	Atherosclerosis	84168	ANTXR1	ORPHA:2067
HP:0002621	Atherosclerosis	5167	ENPP1	ORPHA:758
HP:0002621	Atherosclerosis	368	ABCC6	ORPHA:758
HP:0002621	Atherosclerosis	55901	THSD1	ORPHA:231160
HP:0002621	Atherosclerosis	7049	TGFBR3	ORPHA:231160
HP:0002621	Atherosclerosis	1281	COL3A1	ORPHA:231160
HP:0002621	Atherosclerosis	83854	ANGPTL6	ORPHA:231160
HP:0002621	Atherosclerosis	2022	ENG	ORPHA:231160
HP:0002621	Atherosclerosis	6609	SMPD1	OMIM:607616
HP:0002621	Atherosclerosis	6609	SMPD1	OMIM:257200
HP:0002621	Atherosclerosis	6309	SC5D	OMIM:607330
HP:0002621	Atherosclerosis	427	ASAH1	ORPHA:333
HP:0002621	Atherosclerosis	2720	GLB1	OMIM:230650
HP:0002621	Atherosclerosis	3931	LCAT	OMIM:245900
HP:0002621	Atherosclerosis	10577	NPC2	OMIM:607625
HP:0002621	Atherosclerosis	5294	PIK3CG	OMIM:619802
HP:0002621	Atherosclerosis	1439	CSF2RB	ORPHA:264675
HP:0002621	Atherosclerosis	1438	CSF2RA	ORPHA:264675
HP:0002621	Atherosclerosis	3123	HLA-DRB1	ORPHA:747
HP:0002621	Atherosclerosis	4864	NPC1	OMIM:257220
HP:0002621	Atherosclerosis	348	APOE	OMIM:269600
HP:0002621	Atherosclerosis	3988	LIPA	OMIM:278000
HP:0002621	Atherosclerosis	3988	LIPA	ORPHA:75233
HP:0002621	Atherosclerosis	4758	NEU1	OMIM:256550
HP:0002621	Atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0002621	Atherosclerosis	7148	TNXB	ORPHA:230839
HP:0002621	Atherosclerosis	116519	APOA5	OMIM:145750
HP:0002621	Atherosclerosis	1071	CETP	ORPHA:79506
HP:0002621	Atherosclerosis	345	APOC3	ORPHA:79506
HP:0002621	Atherosclerosis	4023	LPL	OMIM:238600
HP:0002621	Atherosclerosis	3053	SERPIND1	OMIM:612356
HP:0002621	Atherosclerosis	64131	XYLT1	OMIM:264800
HP:0002621	Atherosclerosis	64132	XYLT2	OMIM:264800
HP:0002621	Atherosclerosis	63036	CELA2A	OMIM:618620
HP:0002621	Atherosclerosis	3990	LIPC	ORPHA:140905
HP:0002621	Atherosclerosis	335	APOA1	OMIM:618463
HP:0002621	Atherosclerosis	335	APOA1	ORPHA:425
HP:0002621	Atherosclerosis	1161	ERCC8	ORPHA:90324
HP:0002621	Atherosclerosis	2074	ERCC6	ORPHA:90324
HP:0002621	Atherosclerosis	19	ABCA1	OMIM:604091
HP:0002621	Atherosclerosis	19	ABCA1	ORPHA:425
HP:0002621	Atherosclerosis	84984	CEP19	OMIM:615703
HP:0002621	Atherosclerosis	59	ACTA2	OMIM:611788
HP:0002621	Atherosclerosis	338328	GPIHBP1	OMIM:615947
HP:0002621	Atherosclerosis	4205	MEF2A	OMIM:608320
HP:0002621	Atherosclerosis	4040	LRP6	OMIM:610947
HP:0002621	Atherosclerosis	3949	LDLR	ORPHA:391665
HP:0002621	Atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0002621	Atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0002621	Atherosclerosis	338	APOB	ORPHA:391665
HP:0002621	Atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0002621	Atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0002621	Atherosclerosis	4000	LMNA	ORPHA:363618
HP:0002621	Atherosclerosis	1581	CYP7A1	ORPHA:209902
HP:0002647	Aortic dissection	26191	PTPN22	ORPHA:397
HP:0002647	Aortic dissection	3106	HLA-B	ORPHA:397
HP:0002647	Aortic dissection	3123	HLA-DRB1	ORPHA:397
HP:0002647	Aortic dissection	8974	P4HA2	ORPHA:397
HP:0002647	Aortic dissection	4088	SMAD3	ORPHA:284984
HP:0002647	Aortic dissection	4088	SMAD3	OMIM:613795
HP:0002647	Aortic dissection	4088	SMAD3	ORPHA:91387
HP:0002647	Aortic dissection	1281	COL3A1	OMIM:618343
HP:0002647	Aortic dissection	1281	COL3A1	ORPHA:286
HP:0002647	Aortic dissection	1281	COL3A1	ORPHA:231160
HP:0002647	Aortic dissection	2200	FBN1	OMIM:154700
HP:0002647	Aortic dissection	2200	FBN1	ORPHA:91387
HP:0002647	Aortic dissection	5167	ENPP1	ORPHA:51608
HP:0002647	Aortic dissection	368	ABCC6	ORPHA:51608
HP:0002647	Aortic dissection	4629	MYH11	OMIM:132900
HP:0002647	Aortic dissection	4629	MYH11	ORPHA:229
HP:0002647	Aortic dissection	4629	MYH11	ORPHA:91387
HP:0002647	Aortic dissection	81031	SLC2A10	ORPHA:3342
HP:0002647	Aortic dissection	5351	PLOD1	ORPHA:1900
HP:0002647	Aortic dissection	633	BGN	OMIM:300989
HP:0002647	Aortic dissection	7046	TGFBR1	ORPHA:60030
HP:0002647	Aortic dissection	7046	TGFBR1	ORPHA:91387
HP:0002647	Aortic dissection	10526	IPO8	ORPHA:60030
HP:0002647	Aortic dissection	7048	TGFBR2	ORPHA:60030
HP:0002647	Aortic dissection	7048	TGFBR2	ORPHA:91387
HP:0002647	Aortic dissection	7042	TGFB2	OMIM:614816
HP:0002647	Aortic dissection	7042	TGFB2	ORPHA:91387
HP:0002647	Aortic dissection	4015	LOX	ORPHA:91387
HP:0002647	Aortic dissection	4087	SMAD2	ORPHA:91387
HP:0002647	Aortic dissection	7043	TGFB3	ORPHA:91387
HP:0002647	Aortic dissection	4089	SMAD4	ORPHA:91387
HP:0002647	Aortic dissection	4089	SMAD4	OMIM:175050
HP:0002647	Aortic dissection	59	ACTA2	ORPHA:91387
HP:0002647	Aortic dissection	5592	PRKG1	ORPHA:91387
HP:0002647	Aortic dissection	2301	FOXE3	ORPHA:91387
HP:0002647	Aortic dissection	4144	MAT2A	ORPHA:91387
HP:0002647	Aortic dissection	23493	HEY2	ORPHA:91387
HP:0002647	Aortic dissection	8076	MFAP5	ORPHA:91387
HP:0002647	Aortic dissection	4638	MYLK	ORPHA:91387
HP:0002647	Aortic dissection	2006	ELN	ORPHA:91387
HP:0002647	Aortic dissection	55901	THSD1	ORPHA:231160
HP:0002647	Aortic dissection	7049	TGFBR3	ORPHA:231160
HP:0002647	Aortic dissection	83854	ANGPTL6	ORPHA:231160
HP:0002647	Aortic dissection	2022	ENG	ORPHA:231160
HP:0002647	Aortic dissection	54538	ROBO4	OMIM:618496
HP:0002647	Aortic dissection	79875	THSD4	OMIM:619825
HP:0002647	Aortic dissection	4091	SMAD6	OMIM:614823
HP:0002647	Aortic dissection	4091	SMAD6	ORPHA:402075
HP:0002647	Aortic dissection	4851	NOTCH1	ORPHA:402075
HP:0002647	Aortic dissection	1482	NKX2-5	ORPHA:402075
HP:0002647	Aortic dissection	140628	GATA5	ORPHA:402075
HP:0002647	Aortic dissection	11117	EMILIN1	OMIM:620080
HP:0002623	Overriding aorta	10743	RAI1	ORPHA:477817
HP:0002623	Overriding aorta	55636	CHD7	OMIM:214800
HP:0002623	Overriding aorta	6804	STX1A	ORPHA:904
HP:0002623	Overriding aorta	7461	CLIP2	ORPHA:904
HP:0002623	Overriding aorta	84277	DNAJC30	ORPHA:904
HP:0002623	Overriding aorta	8468	FKBP6	ORPHA:904
HP:0002623	Overriding aorta	5982	RFC2	ORPHA:904
HP:0002623	Overriding aorta	2969	GTF2I	ORPHA:904
HP:0002623	Overriding aorta	3984	LIMK1	ORPHA:904
HP:0002623	Overriding aorta	9569	GTF2IRD1	ORPHA:904
HP:0002623	Overriding aorta	155382	VPS37D	ORPHA:904
HP:0002623	Overriding aorta	155368	METTL27	ORPHA:904
HP:0002623	Overriding aorta	114049	BUD23	ORPHA:904
HP:0002623	Overriding aorta	7458	EIF4H	ORPHA:904
HP:0002623	Overriding aorta	84163	GTF2IRD2	ORPHA:904
HP:0002623	Overriding aorta	9275	BCL7B	ORPHA:904
HP:0002623	Overriding aorta	26608	TBL2	ORPHA:904
HP:0002623	Overriding aorta	653361	NCF1	ORPHA:904
HP:0002623	Overriding aorta	135886	TMEM270	ORPHA:904
HP:0002623	Overriding aorta	51085	MLXIPL	ORPHA:904
HP:0002623	Overriding aorta	9031	BAZ1B	ORPHA:904
HP:0002623	Overriding aorta	2006	ELN	ORPHA:904
HP:0002623	Overriding aorta	91754	NEK9	OMIM:617022
HP:0002623	Overriding aorta	23395	LARS2	OMIM:617021
HP:0002623	Overriding aorta	1349	COX7B	OMIM:309801
HP:0002623	Overriding aorta	3052	HCCS	OMIM:309801
HP:0002623	Overriding aorta	54539	NDUFB11	OMIM:309801
HP:0002623	Overriding aorta	2263	FGFR2	OMIM:101200
HP:0002623	Overriding aorta	23483	TGDS	OMIM:616145
HP:0002624	Abnormal venous morphology	5295	PIK3R1	OMIM:269880
HP:0002624	Abnormal venous morphology	10269	ZMPSTE24	OMIM:608612
HP:0002624	Abnormal venous morphology	716	C1S	OMIM:617174
HP:0002624	Abnormal venous morphology	29957	SLC25A24	OMIM:612289
HP:0002624	Abnormal venous morphology	8815	BANF1	OMIM:614008
HP:0002624	Abnormal venous morphology	5831	PYCR1	OMIM:612940
HP:0002624	Abnormal venous morphology	5831	PYCR1	OMIM:614438
HP:0002624	Abnormal venous morphology	10555	AGPAT2	ORPHA:528
HP:0002624	Abnormal venous morphology	284119	CAVIN1	ORPHA:528
HP:0002624	Abnormal venous morphology	26580	BSCL2	ORPHA:528
HP:0002624	Abnormal venous morphology	2353	FOS	ORPHA:528
HP:0002624	Abnormal venous morphology	857	CAV1	ORPHA:528
HP:0002624	Abnormal venous morphology	25839	COG4	OMIM:618150
HP:0002624	Abnormal venous morphology	715	C1R	OMIM:130080
HP:0002624	Abnormal venous morphology	221496	LEMD2	OMIM:619322
HP:0002624	Abnormal venous morphology	5159	PDGFRB	OMIM:601812
HP:0002624	Abnormal venous morphology	4000	LMNA	OMIM:151660
HP:0002624	Abnormal venous morphology	4000	LMNA	ORPHA:79474
HP:0002624	Abnormal venous morphology	91252	SLC39A13	OMIM:612350
HP:0002624	Abnormal venous morphology	84919	PPP1R15B	OMIM:616817
HP:0002624	Abnormal venous morphology	7424	VEGFC	OMIM:615907
HP:0002624	Abnormal venous morphology	84168	ANTXR1	OMIM:230740
HP:0002624	Abnormal venous morphology	9791	PTDSS1	OMIM:151050
HP:0002624	Abnormal venous morphology	11128	POLR3A	OMIM:264090
HP:0002624	Abnormal venous morphology	11128	POLR3A	ORPHA:3455
HP:0002624	Abnormal venous morphology	7428	VHL	OMIM:263400
HP:0002624	Abnormal venous morphology	2629	GBA1	ORPHA:2072
HP:0002624	Abnormal venous morphology	9158	FIBP	ORPHA:500095
HP:0002624	Abnormal venous morphology	9158	FIBP	OMIM:617107
HP:0002624	Abnormal venous morphology	9780	PIEZO1	OMIM:616843
HP:0002624	Abnormal venous morphology	92579	G6PC3	OMIM:612541
HP:0002624	Abnormal venous morphology	4088	SMAD3	OMIM:613795
HP:0002624	Abnormal venous morphology	4087	SMAD2	OMIM:619656
HP:0002624	Abnormal venous morphology	2303	FOXC2	ORPHA:33001
HP:0002624	Abnormal venous morphology	2303	FOXC2	OMIM:153400
HP:0002624	Abnormal venous morphology	2050	EPHB4	ORPHA:90186
HP:0002624	Abnormal venous morphology	2050	EPHB4	OMIM:617300
HP:0002624	Abnormal venous morphology	1312	COMT	ORPHA:567
HP:0002624	Abnormal venous morphology	221037	JMJD1C	ORPHA:567
HP:0002624	Abnormal venous morphology	2812	GP1BB	ORPHA:567
HP:0002624	Abnormal venous morphology	6239	RREB1	ORPHA:567
HP:0002624	Abnormal venous morphology	6899	TBX1	ORPHA:567
HP:0002624	Abnormal venous morphology	7290	HIRA	ORPHA:567
HP:0002624	Abnormal venous morphology	9632	SEC24C	ORPHA:567
HP:0002624	Abnormal venous morphology	7353	UFD1	ORPHA:567
HP:0002624	Abnormal venous morphology	421	ARVCF	ORPHA:567
HP:0002624	Abnormal venous morphology	55315	SLC29A3	OMIM:602782
HP:0002624	Abnormal venous morphology	55315	SLC29A3	ORPHA:168569
HP:0002624	Abnormal venous morphology	3798	KIF5A	ORPHA:100991
HP:0002624	Abnormal venous morphology	2324	FLT4	ORPHA:79452
HP:0002624	Abnormal venous morphology	57165	GJC2	ORPHA:79452
HP:0002624	Abnormal venous morphology	165	AEBP1	ORPHA:536532
HP:0002624	Abnormal venous morphology	1188	CLCNKB	ORPHA:358
HP:0002624	Abnormal venous morphology	6559	SLC12A3	ORPHA:358
HP:0002624	Abnormal venous morphology	4854	NOTCH3	OMIM:125310
HP:0002624	Abnormal venous morphology	5351	PLOD1	ORPHA:1900
HP:0002624	Abnormal venous morphology	2022	ENG	OMIM:187300
HP:0002624	Abnormal venous morphology	1281	COL3A1	ORPHA:286
HP:0002624	Abnormal venous morphology	538	ATP7A	ORPHA:565
HP:0002624	Abnormal venous morphology	538	ATP7A	ORPHA:198
HP:0002624	Abnormal venous morphology	5728	PTEN	ORPHA:2969
HP:0002624	Abnormal venous morphology	5728	PTEN	ORPHA:137608
HP:0002624	Abnormal venous morphology	55109	AGGF1	ORPHA:90308
HP:0002624	Abnormal venous morphology	4693	NDP	ORPHA:649
HP:0002624	Abnormal venous morphology	5627	PROS1	ORPHA:743
HP:0002624	Abnormal venous morphology	5624	PROC	ORPHA:745
HP:0002624	Abnormal venous morphology	2776	GNAQ	ORPHA:624
HP:0002624	Abnormal venous morphology	64093	SMOC1	ORPHA:1106
HP:0002624	Abnormal venous morphology	128	ADH5	OMIM:619151
HP:0002624	Abnormal venous morphology	2294	FOXF1	OMIM:265380
HP:0002624	Abnormal venous morphology	7490	WT1	OMIM:608978
HP:0002624	Abnormal venous morphology	137814	NKX2-6	ORPHA:3384
HP:0002624	Abnormal venous morphology	23129	PLXND1	ORPHA:3384
HP:0002624	Abnormal venous morphology	1387	CREBBP	OMIM:180849
HP:0002624	Abnormal venous morphology	2033	EP300	OMIM:180849
HP:0002624	Abnormal venous morphology	54916	TMEM260	OMIM:617478
HP:0002624	Abnormal venous morphology	25981	DNAH1	ORPHA:244
HP:0002624	Abnormal venous morphology	115948	ODAD3	ORPHA:244
HP:0002624	Abnormal venous morphology	54768	HYDIN	ORPHA:244
HP:0002624	Abnormal venous morphology	352909	DNAAF3	ORPHA:244
HP:0002624	Abnormal venous morphology	27148	STK36	ORPHA:244
HP:0002624	Abnormal venous morphology	51314	NME8	ORPHA:244
HP:0002624	Abnormal venous morphology	92749	DRC1	ORPHA:244
HP:0002624	Abnormal venous morphology	54970	TTC12	ORPHA:244
HP:0002624	Abnormal venous morphology	152110	NEK10	ORPHA:244
HP:0002624	Abnormal venous morphology	8481	OFD1	ORPHA:244
HP:0002624	Abnormal venous morphology	2302	FOXJ1	ORPHA:244
HP:0002624	Abnormal venous morphology	221421	RSPH9	ORPHA:244
HP:0002624	Abnormal venous morphology	85478	CCDC65	ORPHA:244
HP:0002624	Abnormal venous morphology	55036	CCDC40	ORPHA:244
HP:0002624	Abnormal venous morphology	51364	ZMYND10	ORPHA:244
HP:0002624	Abnormal venous morphology	64446	DNAI2	ORPHA:244
HP:0002624	Abnormal venous morphology	6674	SPAG1	ORPHA:244
HP:0002624	Abnormal venous morphology	83544	DNAL1	ORPHA:244
HP:0002624	Abnormal venous morphology	89765	RSPH1	ORPHA:244
HP:0002624	Abnormal venous morphology	83538	ODAD4	ORPHA:244
HP:0002624	Abnormal venous morphology	200373	CFAP221	ORPHA:244
HP:0002624	Abnormal venous morphology	374407	DNAJB13	ORPHA:244
HP:0002624	Abnormal venous morphology	55172	DNAAF2	ORPHA:244
HP:0002624	Abnormal venous morphology	161582	DNAAF4	ORPHA:244
HP:0002624	Abnormal venous morphology	2622	GAS8	ORPHA:244
HP:0002624	Abnormal venous morphology	23639	DNAAF11	ORPHA:244
HP:0002624	Abnormal venous morphology	27019	DNAI1	ORPHA:244
HP:0002624	Abnormal venous morphology	345895	RSPH4A	ORPHA:244
HP:0002624	Abnormal venous morphology	54919	DNAAF5	ORPHA:244
HP:0002624	Abnormal venous morphology	6103	RPGR	ORPHA:244
HP:0002624	Abnormal venous morphology	388389	CCDC103	ORPHA:244
HP:0002624	Abnormal venous morphology	93233	ODAD1	ORPHA:244
HP:0002624	Abnormal venous morphology	93233	ODAD1	OMIM:615067
HP:0002624	Abnormal venous morphology	55130	ODAD2	ORPHA:244
HP:0002624	Abnormal venous morphology	1767	DNAH5	ORPHA:244
HP:0002624	Abnormal venous morphology	83861	RSPH3	ORPHA:244
HP:0002624	Abnormal venous morphology	345643	MCIDAS	ORPHA:244
HP:0002624	Abnormal venous morphology	56683	CFAP298	ORPHA:244
HP:0002624	Abnormal venous morphology	79925	SPEF2	ORPHA:244
HP:0002624	Abnormal venous morphology	10309	CCNO	ORPHA:244
HP:0002624	Abnormal venous morphology	115399	LRRC56	ORPHA:244
HP:0002624	Abnormal venous morphology	139212	DNAAF6	ORPHA:244
HP:0002624	Abnormal venous morphology	123872	DNAAF1	ORPHA:244
HP:0002624	Abnormal venous morphology	85016	CFAP300	ORPHA:244
HP:0002624	Abnormal venous morphology	339829	CCDC39	ORPHA:244
HP:0002624	Abnormal venous morphology	8701	DNAH11	ORPHA:244
HP:0002624	Abnormal venous morphology	1770	DNAH9	ORPHA:244
HP:0002624	Abnormal venous morphology	246176	GAS2L2	ORPHA:244
HP:0002624	Abnormal venous morphology	10743	RAI1	ORPHA:477817
HP:0002624	Abnormal venous morphology	10847	SRCAP	OMIM:136140
HP:0002624	Abnormal venous morphology	10847	SRCAP	ORPHA:2044
HP:0002624	Abnormal venous morphology	2187	FANCB	OMIM:314390
HP:0002624	Abnormal venous morphology	7547	ZIC3	OMIM:314390
HP:0002624	Abnormal venous morphology	55181	SMG8	OMIM:619268
HP:0002624	Abnormal venous morphology	374879	ZNF699	OMIM:619488
HP:0002624	Abnormal venous morphology	7386	UQCRFS1	OMIM:618775
HP:0002624	Abnormal venous morphology	1822	ATN1	OMIM:618494
HP:0002624	Abnormal venous morphology	4281	MID1	ORPHA:2745
HP:0002624	Abnormal venous morphology	2783	GNB2	OMIM:619503
HP:0002624	Abnormal venous morphology	1161	ERCC8	OMIM:216400
HP:0002624	Abnormal venous morphology	8241	RBM10	ORPHA:2886
HP:0002624	Abnormal venous morphology	7319	UBE2A	ORPHA:163956
HP:0002624	Abnormal venous morphology	10283	CWC27	ORPHA:166035
HP:0002624	Abnormal venous morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002624	Abnormal venous morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002624	Abnormal venous morphology	5468	PPARG	ORPHA:79083
HP:0002624	Abnormal venous morphology	523	ATP6V1A	ORPHA:357074
HP:0002624	Abnormal venous morphology	529	ATP6V1E1	ORPHA:357074
HP:0002624	Abnormal venous morphology	54892	NCAPG2	OMIM:618460
HP:0002624	Abnormal venous morphology	8772	FADD	OMIM:613759
HP:0002624	Abnormal venous morphology	81857	MED25	ORPHA:464738
HP:0002624	Abnormal venous morphology	100128908	CIROP	OMIM:619702
HP:0002624	Abnormal venous morphology	5567	PRKACB	OMIM:619143
HP:0002624	Abnormal venous morphology	51780	KDM3B	OMIM:618846
HP:0002624	Abnormal venous morphology	118856	MMP21	OMIM:616749
HP:0002624	Abnormal venous morphology	5290	PIK3CA	OMIM:613089
HP:0002624	Abnormal venous morphology	5290	PIK3CA	OMIM:612918
HP:0002624	Abnormal venous morphology	207	AKT1	OMIM:176920
HP:0002624	Abnormal venous morphology	5921	RASA1	ORPHA:90307
HP:0002624	Abnormal venous morphology	11235	PDCD10	ORPHA:221061
HP:0002624	Abnormal venous morphology	83605	CCM2	ORPHA:221061
HP:0002624	Abnormal venous morphology	889	KRIT1	ORPHA:221061
HP:0002624	Abnormal venous morphology	11146	GLMN	ORPHA:83454
HP:0002624	Abnormal venous morphology	4488	MSX2	ORPHA:60015
HP:0002624	Abnormal venous morphology	60529	ALX4	ORPHA:60015
HP:0002624	Abnormal venous morphology	7010	TEK	OMIM:600195
HP:0002624	Abnormal venous morphology	2859	GPR35	ORPHA:171
HP:0002624	Abnormal venous morphology	10507	SEMA4D	ORPHA:171
HP:0002624	Abnormal venous morphology	4485	MST1	ORPHA:171
HP:0002624	Abnormal venous morphology	6925	TCF4	ORPHA:171
HP:0002624	Abnormal venous morphology	5580	PRKCD	OMIM:615559
HP:0002624	Abnormal venous morphology	8314	BAP1	ORPHA:50251
HP:0002624	Abnormal venous morphology	93	ACVR2B	OMIM:613751
HP:0002624	Abnormal venous morphology	10128	LRPPRC	OMIM:220111
HP:0002624	Abnormal venous morphology	55997	CFC1	OMIM:605376
HP:0002625	Deep venous thrombosis	5373	PMM2	ORPHA:79318
HP:0002625	Deep venous thrombosis	4524	MTHFR	ORPHA:395
HP:0002625	Deep venous thrombosis	4524	MTHFR	OMIM:188050
HP:0002625	Deep venous thrombosis	2153	F5	OMIM:188055
HP:0002625	Deep venous thrombosis	2162	F13A1	OMIM:188050
HP:0002625	Deep venous thrombosis	2147	F2	OMIM:188050
HP:0002625	Deep venous thrombosis	3026	HABP2	OMIM:188050
HP:0002625	Deep venous thrombosis	9780	PIEZO1	OMIM:616843
HP:0002625	Deep venous thrombosis	2158	F9	OMIM:300807
HP:0002625	Deep venous thrombosis	7056	THBD	OMIM:614486
HP:0002625	Deep venous thrombosis	25974	MMACHC	ORPHA:79282
HP:0002625	Deep venous thrombosis	462	SERPINC1	OMIM:613118
HP:0002625	Deep venous thrombosis	462	SERPINC1	ORPHA:82
HP:0002625	Deep venous thrombosis	29929	ALG6	ORPHA:79320
HP:0002625	Deep venous thrombosis	5627	PROS1	ORPHA:743
HP:0002625	Deep venous thrombosis	5277	PIGA	ORPHA:447
HP:0002625	Deep venous thrombosis	7317	UBA1	OMIM:301054
HP:0002625	Deep venous thrombosis	207	AKT1	OMIM:176920
HP:0002625	Deep venous thrombosis	2034	EPAS1	OMIM:611783
HP:0002625	Deep venous thrombosis	4552	MTRR	ORPHA:2169
HP:0002625	Deep venous thrombosis	2157	F8	OMIM:301071
HP:0002625	Deep venous thrombosis	3053	SERPIND1	OMIM:612356
HP:0002625	Deep venous thrombosis	5624	PROC	OMIM:612304
HP:0002626	Venous varicosities of celiac and mesenteric vessels	2022	ENG	OMIM:187300
HP:0002627	Right aortic arch with mirror image branching	6899	TBX1	OMIM:188400
HP:0002627	Right aortic arch with mirror image branching	6899	TBX1	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	78987	CRELD1	OMIM:606217
HP:0002627	Right aortic arch with mirror image branching	9993	DGCR2	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	8220	ESS2	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	8214	DGCR6	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	54487	DGCR8	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	64220	STRA6	OMIM:601186
HP:0002629	Gastrointestinal arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0002629	Gastrointestinal arteriovenous malformation	2022	ENG	OMIM:187300
HP:0002629	Gastrointestinal arteriovenous malformation	11146	GLMN	ORPHA:83454
HP:0012841	Retinal vascular tortuosity	84168	ANTXR1	OMIM:230740
HP:0012841	Retinal vascular tortuosity	6804	STX1A	ORPHA:904
HP:0012841	Retinal vascular tortuosity	7461	CLIP2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	8468	FKBP6	ORPHA:904
HP:0012841	Retinal vascular tortuosity	5982	RFC2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2969	GTF2I	ORPHA:904
HP:0012841	Retinal vascular tortuosity	3984	LIMK1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	9569	GTF2IRD1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	155382	VPS37D	ORPHA:904
HP:0012841	Retinal vascular tortuosity	155368	METTL27	ORPHA:904
HP:0012841	Retinal vascular tortuosity	114049	BUD23	ORPHA:904
HP:0012841	Retinal vascular tortuosity	7458	EIF4H	ORPHA:904
HP:0012841	Retinal vascular tortuosity	84163	GTF2IRD2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	9275	BCL7B	ORPHA:904
HP:0012841	Retinal vascular tortuosity	26608	TBL2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	653361	NCF1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	135886	TMEM270	ORPHA:904
HP:0012841	Retinal vascular tortuosity	51085	MLXIPL	ORPHA:904
HP:0012841	Retinal vascular tortuosity	51085	MLXIPL	OMIM:194050
HP:0012841	Retinal vascular tortuosity	9031	BAZ1B	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2006	ELN	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2006	ELN	OMIM:194050
HP:0012841	Retinal vascular tortuosity	4041	LRP5	ORPHA:90050
HP:0012841	Retinal vascular tortuosity	8322	FZD4	ORPHA:90050
HP:0012841	Retinal vascular tortuosity	1312	COMT	ORPHA:567
HP:0012841	Retinal vascular tortuosity	221037	JMJD1C	ORPHA:567
HP:0012841	Retinal vascular tortuosity	2812	GP1BB	ORPHA:567
HP:0012841	Retinal vascular tortuosity	6239	RREB1	ORPHA:567
HP:0012841	Retinal vascular tortuosity	7290	HIRA	ORPHA:567
HP:0012841	Retinal vascular tortuosity	9632	SEC24C	ORPHA:567
HP:0012841	Retinal vascular tortuosity	7353	UFD1	ORPHA:567
HP:0012841	Retinal vascular tortuosity	421	ARVCF	ORPHA:567
HP:0012841	Retinal vascular tortuosity	4750	NEK1	ORPHA:2751
HP:0012841	Retinal vascular tortuosity	23474	ETHE1	ORPHA:51188
HP:0012841	Retinal vascular tortuosity	26160	IFT172	OMIM:619471
HP:0012841	Retinal vascular tortuosity	1282	COL4A1	ORPHA:73229
HP:0012841	Retinal vascular tortuosity	9993	DGCR2	OMIM:192430
HP:0012841	Retinal vascular tortuosity	8220	ESS2	OMIM:192430
HP:0012841	Retinal vascular tortuosity	8214	DGCR6	OMIM:192430
HP:0012841	Retinal vascular tortuosity	54487	DGCR8	OMIM:192430
HP:0012841	Retinal vascular tortuosity	6899	TBX1	OMIM:192430
HP:0012841	Retinal vascular tortuosity	85465	SELENOI	OMIM:618768
HP:0012841	Retinal vascular tortuosity	1063	CENPF	OMIM:243605
HP:0012841	Retinal vascular tortuosity	3913	LAMB2	OMIM:609049
HP:0012841	Retinal vascular tortuosity	84277	DNAJC30	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4535	MT-ND1	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4536	MT-ND2	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4538	MT-ND4	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4720	NDUFS2	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4512	MT-CO1	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4514	MT-CO3	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4519	MT-CYB	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4508	MT-ATP6	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4540	MT-ND5	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4541	MT-ND6	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4539	MT-ND4L	ORPHA:104
HP:0012841	Retinal vascular tortuosity	7490	WT1	OMIM:106210
HP:0012841	Retinal vascular tortuosity	5080	PAX6	OMIM:106210
HP:0012841	Retinal vascular tortuosity	4693	NDP	OMIM:305390
HP:0012842	Skin appendage neoplasm	10804	GJB6	ORPHA:477
HP:0012842	Skin appendage neoplasm	2706	GJB2	ORPHA:477
HP:0012842	Skin appendage neoplasm	10483	SEC23B	OMIM:616858
HP:0012842	Skin appendage neoplasm	100144748	KLLN	OMIM:615107
HP:0012842	Skin appendage neoplasm	5728	PTEN	ORPHA:65285
HP:0012842	Skin appendage neoplasm	4292	MLH1	OMIM:158320
HP:0012842	Skin appendage neoplasm	4436	MSH2	OMIM:158320
HP:0012842	Skin appendage neoplasm	1387	CREBBP	ORPHA:353277
HP:0012842	Skin appendage neoplasm	1387	CREBBP	ORPHA:353281
HP:0012842	Skin appendage neoplasm	1499	CTNNB1	ORPHA:91414
HP:0012842	Skin appendage neoplasm	1499	CTNNB1	OMIM:132600
HP:0012842	Skin appendage neoplasm	2033	EP300	ORPHA:353284
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:99818
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:247806
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:79665
HP:0012842	Skin appendage neoplasm	9817	KEAP1	ORPHA:276399
HP:0012842	Skin appendage neoplasm	23405	DICER1	ORPHA:276399
HP:0012842	Skin appendage neoplasm	80326	WNT10A	OMIM:224750
HP:0012842	Skin appendage neoplasm	201163	FLCN	OMIM:135150
HP:0012844	Trichilemmoma	10804	GJB6	ORPHA:477
HP:0012844	Trichilemmoma	2706	GJB2	ORPHA:477
HP:0012844	Trichilemmoma	10483	SEC23B	OMIM:616858
HP:0012844	Trichilemmoma	100144748	KLLN	OMIM:615107
HP:0012844	Trichilemmoma	5728	PTEN	ORPHA:65285
HP:0012847	Epilepsia partialis continua	56997	COQ8A	OMIM:612016
HP:0012847	Epilepsia partialis continua	29960	MRM2	OMIM:618567
HP:0012847	Epilepsia partialis continua	5428	POLG	OMIM:203700
HP:0012847	Epilepsia partialis continua	6335	SCN9A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6326	SCN2A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	2554	GABRA1	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6323	SCN1A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6324	SCN1B	ORPHA:33069
HP:0012847	Epilepsia partialis continua	57526	PCDH19	ORPHA:33069
HP:0012847	Epilepsia partialis continua	2566	GABRG2	ORPHA:33069
HP:0012847	Epilepsia partialis continua	56652	TWNK	OMIM:271245
HP:0012848	Small intestinal stenosis	57217	TTC7A	ORPHA:2300
HP:0012848	Small intestinal stenosis	2294	FOXF1	ORPHA:210122
HP:0012848	Small intestinal stenosis	64220	STRA6	ORPHA:2470
HP:0012848	Small intestinal stenosis	5915	RARB	ORPHA:2470
HP:0012848	Small intestinal stenosis	672	BRCA1	ORPHA:84
HP:0012848	Small intestinal stenosis	10459	MAD2L2	ORPHA:84
HP:0012848	Small intestinal stenosis	7516	XRCC2	ORPHA:84
HP:0012848	Small intestinal stenosis	29089	UBE2T	ORPHA:84
HP:0012848	Small intestinal stenosis	675	BRCA2	ORPHA:84
HP:0012848	Small intestinal stenosis	55120	FANCL	ORPHA:84
HP:0012848	Small intestinal stenosis	2177	FANCD2	ORPHA:84
HP:0012848	Small intestinal stenosis	2175	FANCA	ORPHA:84
HP:0012848	Small intestinal stenosis	2187	FANCB	ORPHA:84
HP:0012848	Small intestinal stenosis	2176	FANCC	ORPHA:84
HP:0012848	Small intestinal stenosis	2178	FANCE	ORPHA:84
HP:0012848	Small intestinal stenosis	2188	FANCF	ORPHA:84
HP:0012848	Small intestinal stenosis	2189	FANCG	ORPHA:84
HP:0012848	Small intestinal stenosis	5888	RAD51	ORPHA:84
HP:0012848	Small intestinal stenosis	5889	RAD51C	ORPHA:84
HP:0012848	Small intestinal stenosis	55159	RFWD3	ORPHA:84
HP:0012848	Small intestinal stenosis	83990	BRIP1	ORPHA:84
HP:0012848	Small intestinal stenosis	57697	FANCM	ORPHA:84
HP:0012848	Small intestinal stenosis	79728	PALB2	ORPHA:84
HP:0012848	Small intestinal stenosis	84464	SLX4	ORPHA:84
HP:0012848	Small intestinal stenosis	2072	ERCC4	ORPHA:84
HP:0012848	Small intestinal stenosis	55215	FANCI	ORPHA:84
HP:0012848	Small intestinal stenosis	2623	GATA1	OMIM:190685
HP:0012848	Small intestinal stenosis	8318	CDC45	OMIM:617063
HP:0012843	Hair follicle neoplasm	10804	GJB6	ORPHA:477
HP:0012843	Hair follicle neoplasm	2706	GJB2	ORPHA:477
HP:0012843	Hair follicle neoplasm	10483	SEC23B	OMIM:616858
HP:0012843	Hair follicle neoplasm	100144748	KLLN	OMIM:615107
HP:0012843	Hair follicle neoplasm	5728	PTEN	ORPHA:65285
HP:0002630	Fat malabsorption	3988	LIPA	ORPHA:75233
HP:0002630	Fat malabsorption	3988	LIPA	OMIM:278000
HP:0002630	Fat malabsorption	4072	EPCAM	ORPHA:92050
HP:0002630	Fat malabsorption	105371045	PERCC1	ORPHA:92050
HP:0002630	Fat malabsorption	2212	FCGR2A	OMIM:219700
HP:0002630	Fat malabsorption	7040	TGFB1	OMIM:219700
HP:0002630	Fat malabsorption	7040	TGFB1	ORPHA:586
HP:0002630	Fat malabsorption	1080	CFTR	OMIM:219700
HP:0002630	Fat malabsorption	1080	CFTR	OMIM:167800
HP:0002630	Fat malabsorption	1080	CFTR	ORPHA:586
HP:0002630	Fat malabsorption	4351	MPI	OMIM:602579
HP:0002630	Fat malabsorption	9056	SLC7A7	ORPHA:470
HP:0002630	Fat malabsorption	51651	PTRH2	OMIM:616263
HP:0002630	Fat malabsorption	57003	CCDC47	OMIM:618268
HP:0002630	Fat malabsorption	3930	LBR	OMIM:613471
HP:0002630	Fat malabsorption	5193	PEX12	OMIM:266510
HP:0002630	Fat malabsorption	79827	CLMP	OMIM:615237
HP:0002630	Fat malabsorption	118429	ANTXR2	ORPHA:2176
HP:0002630	Fat malabsorption	338	APOB	OMIM:615558
HP:0002630	Fat malabsorption	3117	HLA-DQA1	OMIM:212750
HP:0002630	Fat malabsorption	3119	HLA-DQB1	OMIM:212750
HP:0002630	Fat malabsorption	256297	PTF1A	OMIM:615935
HP:0002630	Fat malabsorption	11330	CTRC	OMIM:167800
HP:0002630	Fat malabsorption	6690	SPINK1	OMIM:167800
HP:0002630	Fat malabsorption	5645	PRSS2	OMIM:167800
HP:0002630	Fat malabsorption	5644	PRSS1	OMIM:167800
HP:0002630	Fat malabsorption	123264	SLC51B	OMIM:619481
HP:0002630	Fat malabsorption	6804	STX1A	ORPHA:586
HP:0002630	Fat malabsorption	2947	GSTM3	ORPHA:586
HP:0002630	Fat malabsorption	2729	GCLC	ORPHA:586
HP:0002630	Fat malabsorption	1084	CEACAM3	ORPHA:586
HP:0002630	Fat malabsorption	6556	SLC11A1	ORPHA:586
HP:0002630	Fat malabsorption	51164	DCTN4	ORPHA:586
HP:0002630	Fat malabsorption	3783	KCNN4	ORPHA:586
HP:0002630	Fat malabsorption	4282	MIF	ORPHA:586
HP:0002630	Fat malabsorption	1909	EDNRA	ORPHA:586
HP:0002630	Fat malabsorption	6550	SLC9A3	ORPHA:586
HP:0002630	Fat malabsorption	3162	HMOX1	ORPHA:586
HP:0002630	Fat malabsorption	115019	SLC26A9	ORPHA:586
HP:0002630	Fat malabsorption	3077	HFE	ORPHA:586
HP:0002630	Fat malabsorption	11254	SLC6A14	ORPHA:586
HP:0002630	Fat malabsorption	5265	SERPINA1	ORPHA:586
HP:0002630	Fat malabsorption	22802	CLCA4	ORPHA:586
HP:0002630	Fat malabsorption	4680	CEACAM6	ORPHA:586
HP:0002630	Fat malabsorption	8309	ACOX2	OMIM:617308
HP:0002630	Fat malabsorption	23729	SHPK	ORPHA:440713
HP:0002630	Fat malabsorption	84701	COX4I2	OMIM:612714
HP:0002630	Fat malabsorption	5373	PMM2	OMIM:212065
HP:0002630	Fat malabsorption	9414	TJP2	OMIM:607748
HP:0002630	Fat malabsorption	4547	MTTP	ORPHA:14
HP:0002630	Fat malabsorption	4547	MTTP	OMIM:200100
HP:0002630	Fat malabsorption	80270	HSD3B7	OMIM:607765
HP:0002630	Fat malabsorption	6555	SLC10A2	OMIM:613291
HP:0002630	Fat malabsorption	8647	ABCB11	OMIM:601847
HP:0002630	Fat malabsorption	5406	PNLIP	OMIM:614338
HP:0002630	Fat malabsorption	5205	ATP8B1	OMIM:211600
HP:0002630	Fat malabsorption	51128	SAR1B	ORPHA:71
HP:0002630	Fat malabsorption	23600	AMACR	OMIM:214950
HP:0002630	Fat malabsorption	199221	DZIP1L	ORPHA:731
HP:0002630	Fat malabsorption	5314	PKHD1	ORPHA:731
HP:0002630	Fat malabsorption	9420	CYP7B1	ORPHA:79302
HP:0002630	Fat malabsorption	134218	DNAJC21	ORPHA:811
HP:0002630	Fat malabsorption	79631	EFL1	ORPHA:811
HP:0002630	Fat malabsorption	51119	SBDS	ORPHA:811
HP:0002630	Fat malabsorption	6729	SRP54	ORPHA:811
HP:0002630	Fat malabsorption	6718	AKR1D1	ORPHA:79303
HP:0002632	Low-to-normal blood pressure	6557	SLC12A1	OMIM:601678
HP:0002632	Low-to-normal blood pressure	1188	CLCNKB	ORPHA:358
HP:0002632	Low-to-normal blood pressure	6559	SLC12A3	ORPHA:358
HP:0002632	Low-to-normal blood pressure	3758	KCNJ1	OMIM:241200
HP:0002633	Vasculitis	26191	PTPN22	ORPHA:397
HP:0002633	Vasculitis	26191	PTPN22	ORPHA:900
HP:0002633	Vasculitis	26191	PTPN22	OMIM:180300
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:397
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:3287
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:117
HP:0002633	Vasculitis	3123	HLA-DRB1	ORPHA:397
HP:0002633	Vasculitis	8974	P4HA2	ORPHA:397
HP:0002633	Vasculitis	355	FAS	ORPHA:3261
HP:0002633	Vasculitis	355	FAS	OMIM:601859
HP:0002633	Vasculitis	355	FAS	ORPHA:117
HP:0002633	Vasculitis	356	FASLG	ORPHA:3261
HP:0002633	Vasculitis	356	FASLG	OMIM:601859
HP:0002633	Vasculitis	5580	PRKCD	ORPHA:3261
HP:0002633	Vasculitis	5580	PRKCD	ORPHA:1572
HP:0002633	Vasculitis	843	CASP10	ORPHA:3261
HP:0002633	Vasculitis	843	CASP10	OMIM:603909
HP:0002633	Vasculitis	10125	RASGRP1	ORPHA:3261
HP:0002633	Vasculitis	90268	OTULIN	OMIM:617099
HP:0002633	Vasculitis	720	C4A	OMIM:614380
HP:0002633	Vasculitis	720	C4A	ORPHA:117
HP:0002633	Vasculitis	7456	WIPF1	ORPHA:906
HP:0002633	Vasculitis	3426	CFI	OMIM:610984
HP:0002633	Vasculitis	1493	CTLA4	ORPHA:900
HP:0002633	Vasculitis	3115	HLA-DPB1	ORPHA:900
HP:0002633	Vasculitis	5657	PRTN3	ORPHA:900
HP:0002633	Vasculitis	3113	HLA-DPA1	ORPHA:900
HP:0002633	Vasculitis	4598	MVK	ORPHA:343
HP:0002633	Vasculitis	51816	ADA2	OMIM:615688
HP:0002633	Vasculitis	64135	IFIH1	OMIM:615846
HP:0002633	Vasculitis	7132	TNFRSF1A	ORPHA:32960
HP:0002633	Vasculitis	331	XIAP	OMIM:308240
HP:0002633	Vasculitis	4068	SH2D1A	OMIM:308240
HP:0002633	Vasculitis	114548	NLRP3	ORPHA:575
HP:0002633	Vasculitis	6335	SCN9A	ORPHA:90026
HP:0002633	Vasculitis	11280	SCN11A	ORPHA:90026
HP:0002633	Vasculitis	6336	SCN10A	ORPHA:90026
HP:0002633	Vasculitis	3593	IL12B	ORPHA:3287
HP:0002633	Vasculitis	6945	MLX	ORPHA:3287
HP:0002633	Vasculitis	6583	SLC22A4	OMIM:180300
HP:0002633	Vasculitis	4261	CIITA	OMIM:180300
HP:0002633	Vasculitis	51744	CD244	OMIM:180300
HP:0002633	Vasculitis	4795	NFKBIL1	OMIM:180300
HP:0002633	Vasculitis	3586	IL10	OMIM:180300
HP:0002633	Vasculitis	3586	IL10	ORPHA:117
HP:0002633	Vasculitis	4615	MYD88	ORPHA:33226
HP:0002633	Vasculitis	23495	TNFRSF13B	ORPHA:1572
HP:0002633	Vasculitis	4790	NFKB1	ORPHA:1572
HP:0002633	Vasculitis	4791	NFKB2	ORPHA:1572
HP:0002633	Vasculitis	115650	TNFRSF13C	ORPHA:1572
HP:0002633	Vasculitis	1380	CR2	ORPHA:1572
HP:0002633	Vasculitis	8742	TNFSF12	ORPHA:1572
HP:0002633	Vasculitis	930	CD19	ORPHA:1572
HP:0002633	Vasculitis	29851	ICOS	ORPHA:1572
HP:0002633	Vasculitis	931	MS4A1	ORPHA:1572
HP:0002633	Vasculitis	975	CD81	ORPHA:1572
HP:0002633	Vasculitis	359948	IRF2BP2	ORPHA:1572
HP:0002633	Vasculitis	54	ACP5	ORPHA:1855
HP:0002633	Vasculitis	149233	IL23R	ORPHA:117
HP:0002633	Vasculitis	6775	STAT4	ORPHA:117
HP:0002633	Vasculitis	1230	CCR1	ORPHA:117
HP:0002633	Vasculitis	3592	IL12A	ORPHA:117
HP:0002633	Vasculitis	101928376	IL12A-AS1	ORPHA:117
HP:0002633	Vasculitis	7099	TLR4	ORPHA:117
HP:0002633	Vasculitis	3459	IFNGR1	ORPHA:117
HP:0002633	Vasculitis	337867	UBAC2	ORPHA:117
HP:0002633	Vasculitis	51752	ERAP1	ORPHA:117
HP:0002633	Vasculitis	8302	KLRC4	ORPHA:117
HP:0002633	Vasculitis	7454	WAS	OMIM:301000
HP:0002633	Vasculitis	64127	NOD2	ORPHA:90340
HP:0002633	Vasculitis	4860	PNP	OMIM:613179
HP:0002633	Vasculitis	81704	DOCK8	OMIM:243700
HP:0002633	Vasculitis	10621	POLR3F	OMIM:619872
HP:0002633	Vasculitis	4210	MEFV	ORPHA:3243
HP:0002633	Vasculitis	4210	MEFV	OMIM:608068
HP:0002633	Vasculitis	1776	DNASE1L3	ORPHA:36412
HP:0002633	Vasculitis	6850	SYK	OMIM:619381
HP:0002633	Vasculitis	5238	PGM3	ORPHA:443811
HP:0002633	Vasculitis	5238	PGM3	OMIM:615816
HP:0002633	Vasculitis	10095	ARPC1B	OMIM:617718
HP:0002633	Vasculitis	3594	IL12RB1	ORPHA:319552
HP:0002633	Vasculitis	11277	TREX1	OMIM:192315
HP:0002634	Arteriosclerosis	336	APOA2	OMIM:143890
HP:0002634	Arteriosclerosis	2053	EPHX2	OMIM:143890
HP:0002634	Arteriosclerosis	10842	PPP1R17	OMIM:143890
HP:0002634	Arteriosclerosis	2690	GHR	OMIM:143890
HP:0002634	Arteriosclerosis	4629	MYH11	OMIM:132900
HP:0002634	Arteriosclerosis	4629	MYH11	ORPHA:229
HP:0002634	Arteriosclerosis	4629	MYH11	ORPHA:91387
HP:0002634	Arteriosclerosis	79184	BRCC3	ORPHA:280679
HP:0002634	Arteriosclerosis	2099	ESR1	ORPHA:785
HP:0002634	Arteriosclerosis	57104	PNPLA2	ORPHA:565612
HP:0002634	Arteriosclerosis	4015	LOX	OMIM:617168
HP:0002634	Arteriosclerosis	4015	LOX	ORPHA:91387
HP:0002634	Arteriosclerosis	57592	ZNF687	OMIM:616833
HP:0002634	Arteriosclerosis	7046	TGFBR1	ORPHA:91387
HP:0002634	Arteriosclerosis	7048	TGFBR2	ORPHA:91387
HP:0002634	Arteriosclerosis	4087	SMAD2	ORPHA:91387
HP:0002634	Arteriosclerosis	7043	TGFB3	ORPHA:91387
HP:0002634	Arteriosclerosis	4088	SMAD3	ORPHA:91387
HP:0002634	Arteriosclerosis	7042	TGFB2	ORPHA:91387
HP:0002634	Arteriosclerosis	4089	SMAD4	ORPHA:91387
HP:0002634	Arteriosclerosis	2200	FBN1	ORPHA:91387
HP:0002634	Arteriosclerosis	5592	PRKG1	ORPHA:91387
HP:0002634	Arteriosclerosis	2301	FOXE3	ORPHA:91387
HP:0002634	Arteriosclerosis	4144	MAT2A	ORPHA:91387
HP:0002634	Arteriosclerosis	23493	HEY2	ORPHA:91387
HP:0002634	Arteriosclerosis	8076	MFAP5	ORPHA:91387
HP:0002634	Arteriosclerosis	4638	MYLK	ORPHA:91387
HP:0002634	Arteriosclerosis	2006	ELN	ORPHA:91387
HP:0002634	Arteriosclerosis	5468	PPARG	ORPHA:79083
HP:0002634	Arteriosclerosis	8815	BANF1	OMIM:614008
HP:0002634	Arteriosclerosis	2677	GGCX	OMIM:610842
HP:0002634	Arteriosclerosis	2677	GGCX	ORPHA:91135
HP:0002634	Arteriosclerosis	7840	ALMS1	OMIM:203800
HP:0002634	Arteriosclerosis	189	AGXT	ORPHA:93598
HP:0002634	Arteriosclerosis	3081	HGD	ORPHA:56
HP:0002634	Arteriosclerosis	10269	ZMPSTE24	ORPHA:740
HP:0002634	Arteriosclerosis	84168	ANTXR1	ORPHA:2067
HP:0002634	Arteriosclerosis	5167	ENPP1	ORPHA:758
HP:0002634	Arteriosclerosis	55901	THSD1	ORPHA:231160
HP:0002634	Arteriosclerosis	7049	TGFBR3	ORPHA:231160
HP:0002634	Arteriosclerosis	1281	COL3A1	ORPHA:231160
HP:0002634	Arteriosclerosis	83854	ANGPTL6	ORPHA:231160
HP:0002634	Arteriosclerosis	2022	ENG	ORPHA:231160
HP:0002634	Arteriosclerosis	5654	HTRA1	ORPHA:199354
HP:0002634	Arteriosclerosis	2068	ERCC2	ORPHA:220295
HP:0002634	Arteriosclerosis	2073	ERCC5	ORPHA:220295
HP:0002634	Arteriosclerosis	2072	ERCC4	ORPHA:220295
HP:0002634	Arteriosclerosis	2071	ERCC3	ORPHA:220295
HP:0002634	Arteriosclerosis	847	CAT	ORPHA:926
HP:0002634	Arteriosclerosis	50485	SMARCAL1	OMIM:242900
HP:0002634	Arteriosclerosis	368	ABCC6	OMIM:177850
HP:0002634	Arteriosclerosis	3988	LIPA	ORPHA:75234
HP:0002634	Arteriosclerosis	6609	SMPD1	OMIM:607616
HP:0002634	Arteriosclerosis	6609	SMPD1	OMIM:257200
HP:0002634	Arteriosclerosis	6309	SC5D	OMIM:607330
HP:0002634	Arteriosclerosis	427	ASAH1	ORPHA:333
HP:0002634	Arteriosclerosis	2720	GLB1	OMIM:230650
HP:0002634	Arteriosclerosis	3931	LCAT	OMIM:245900
HP:0002634	Arteriosclerosis	10577	NPC2	OMIM:607625
HP:0002634	Arteriosclerosis	5294	PIK3CG	OMIM:619802
HP:0002634	Arteriosclerosis	1439	CSF2RB	ORPHA:264675
HP:0002634	Arteriosclerosis	1438	CSF2RA	ORPHA:264675
HP:0002634	Arteriosclerosis	3123	HLA-DRB1	ORPHA:747
HP:0002634	Arteriosclerosis	4864	NPC1	OMIM:257220
HP:0002634	Arteriosclerosis	348	APOE	OMIM:269600
HP:0002634	Arteriosclerosis	4758	NEU1	OMIM:256550
HP:0002634	Arteriosclerosis	1593	CYP27A1	ORPHA:909
HP:0002634	Arteriosclerosis	7148	TNXB	ORPHA:230839
HP:0002634	Arteriosclerosis	116519	APOA5	OMIM:145750
HP:0002634	Arteriosclerosis	1071	CETP	ORPHA:79506
HP:0002634	Arteriosclerosis	345	APOC3	ORPHA:79506
HP:0002634	Arteriosclerosis	4023	LPL	OMIM:238600
HP:0002634	Arteriosclerosis	3053	SERPIND1	OMIM:612356
HP:0002634	Arteriosclerosis	64131	XYLT1	OMIM:264800
HP:0002634	Arteriosclerosis	64132	XYLT2	OMIM:264800
HP:0002634	Arteriosclerosis	63036	CELA2A	OMIM:618620
HP:0002634	Arteriosclerosis	3949	LDLR	ORPHA:391665
HP:0002634	Arteriosclerosis	255738	PCSK9	ORPHA:391665
HP:0002634	Arteriosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0002634	Arteriosclerosis	338	APOB	ORPHA:391665
HP:0002634	Arteriosclerosis	64240	ABCG5	ORPHA:391665
HP:0002634	Arteriosclerosis	64241	ABCG8	ORPHA:391665
HP:0002634	Arteriosclerosis	7486	WRN	OMIM:277700
HP:0002634	Arteriosclerosis	4000	LMNA	ORPHA:79474
HP:0002634	Arteriosclerosis	3990	LIPC	ORPHA:140905
HP:0002634	Arteriosclerosis	335	APOA1	OMIM:618463
HP:0002634	Arteriosclerosis	335	APOA1	ORPHA:425
HP:0002634	Arteriosclerosis	1161	ERCC8	ORPHA:90324
HP:0002634	Arteriosclerosis	2074	ERCC6	ORPHA:90324
HP:0002634	Arteriosclerosis	19	ABCA1	OMIM:604091
HP:0002634	Arteriosclerosis	19	ABCA1	ORPHA:425
HP:0002634	Arteriosclerosis	84984	CEP19	OMIM:615703
HP:0002634	Arteriosclerosis	59	ACTA2	OMIM:611788
HP:0002634	Arteriosclerosis	338328	GPIHBP1	OMIM:615947
HP:0002634	Arteriosclerosis	4205	MEF2A	OMIM:608320
HP:0002634	Arteriosclerosis	4040	LRP6	OMIM:610947
HP:0002634	Arteriosclerosis	1581	CYP7A1	ORPHA:209902
HP:0002635	Type IV atherosclerotic lesion	348	APOE	ORPHA:412
HP:0002636	Dilatation of an abdominal artery	7048	TGFBR2	OMIM:610168
HP:0002636	Dilatation of an abdominal artery	2022	ENG	OMIM:187300
HP:0002636	Dilatation of an abdominal artery	1289	COL5A1	OMIM:619329
HP:0002637	Cerebral ischemia	94	ACVRL1	OMIM:600376
HP:0002637	Cerebral ischemia	4854	NOTCH3	ORPHA:136
HP:0002637	Cerebral ischemia	51816	ADA2	OMIM:182410
HP:0002637	Cerebral ischemia	2022	ENG	OMIM:187300
HP:0002637	Cerebral ischemia	81031	SLC2A10	OMIM:208050
HP:0002637	Cerebral ischemia	6651	SON	ORPHA:500150
HP:0002637	Cerebral ischemia	2982	GUCY1A1	OMIM:615750
HP:0002637	Cerebral ischemia	3717	JAK2	OMIM:614521
HP:0002637	Cerebral ischemia	50485	SMARCAL1	ORPHA:1830
HP:0002637	Cerebral ischemia	6331	SCN5A	ORPHA:1344
HP:0002637	Cerebral ischemia	4878	NPPA	ORPHA:1344
HP:0002637	Cerebral ischemia	2783	GNB2	OMIM:619503
HP:0002637	Cerebral ischemia	79184	BRCC3	ORPHA:280679
HP:0002637	Cerebral ischemia	1282	COL4A1	OMIM:175780
HP:0002637	Cerebral ischemia	4629	MYH11	ORPHA:91387
HP:0002637	Cerebral ischemia	7046	TGFBR1	ORPHA:91387
HP:0002637	Cerebral ischemia	7048	TGFBR2	ORPHA:91387
HP:0002637	Cerebral ischemia	4015	LOX	ORPHA:91387
HP:0002637	Cerebral ischemia	4087	SMAD2	ORPHA:91387
HP:0002637	Cerebral ischemia	7043	TGFB3	ORPHA:91387
HP:0002637	Cerebral ischemia	4088	SMAD3	ORPHA:91387
HP:0002637	Cerebral ischemia	7042	TGFB2	ORPHA:91387
HP:0002637	Cerebral ischemia	4089	SMAD4	ORPHA:91387
HP:0002637	Cerebral ischemia	2200	FBN1	ORPHA:91387
HP:0002637	Cerebral ischemia	59	ACTA2	ORPHA:91387
HP:0002637	Cerebral ischemia	5592	PRKG1	ORPHA:91387
HP:0002637	Cerebral ischemia	2301	FOXE3	ORPHA:91387
HP:0002637	Cerebral ischemia	4144	MAT2A	ORPHA:91387
HP:0002637	Cerebral ischemia	23493	HEY2	ORPHA:91387
HP:0002637	Cerebral ischemia	8076	MFAP5	ORPHA:91387
HP:0002637	Cerebral ischemia	4638	MYLK	ORPHA:91387
HP:0002637	Cerebral ischemia	2006	ELN	ORPHA:91387
HP:0002637	Cerebral ischemia	2658	GDF2	ORPHA:774
HP:0002637	Cerebral ischemia	7092	TLL1	ORPHA:99103
HP:0002637	Cerebral ischemia	57057	TBX20	ORPHA:99103
HP:0002637	Cerebral ischemia	4624	MYH6	ORPHA:99103
HP:0002637	Cerebral ischemia	1482	NKX2-5	ORPHA:99103
HP:0002637	Cerebral ischemia	70	ACTC1	ORPHA:99103
HP:0002637	Cerebral ischemia	10370	CITED2	ORPHA:99103
HP:0002637	Cerebral ischemia	2626	GATA4	ORPHA:99103
HP:0002637	Cerebral ischemia	2627	GATA6	ORPHA:99103
HP:0002637	Cerebral ischemia	4607	MYBPC3	OMIM:115197
HP:0002637	Cerebral ischemia	2717	GLA	OMIM:301500
HP:0002637	Cerebral ischemia	2717	GLA	ORPHA:324
HP:0002637	Cerebral ischemia	5167	ENPP1	ORPHA:51608
HP:0002637	Cerebral ischemia	368	ABCC6	ORPHA:51608
HP:0002637	Cerebral ischemia	71	ACTG1	ORPHA:2995
HP:0002637	Cerebral ischemia	60	ACTB	ORPHA:2995
HP:0002637	Cerebral ischemia	5654	HTRA1	OMIM:600142
HP:0002637	Cerebral ischemia	5654	HTRA1	OMIM:616779
HP:0002637	Cerebral ischemia	4000	LMNA	ORPHA:740
HP:0002637	Cerebral ischemia	10269	ZMPSTE24	ORPHA:740
HP:0002637	Cerebral ischemia	1281	COL3A1	ORPHA:286
HP:0002637	Cerebral ischemia	1281	COL3A1	ORPHA:231160
HP:0002637	Cerebral ischemia	3845	KRAS	OMIM:600268
HP:0002637	Cerebral ischemia	10019	SH2B3	ORPHA:3318
HP:0002637	Cerebral ischemia	811	CALR	ORPHA:3318
HP:0002637	Cerebral ischemia	7157	TP53	ORPHA:3318
HP:0002637	Cerebral ischemia	54790	TET2	ORPHA:3318
HP:0002637	Cerebral ischemia	57674	RNF213	OMIM:607151
HP:0002637	Cerebral ischemia	11093	ADAMTS13	OMIM:274150
HP:0002637	Cerebral ischemia	55901	THSD1	ORPHA:231160
HP:0002637	Cerebral ischemia	7049	TGFBR3	ORPHA:231160
HP:0002637	Cerebral ischemia	83854	ANGPTL6	ORPHA:231160
HP:0002637	Cerebral ischemia	26191	PTPN22	ORPHA:397
HP:0002637	Cerebral ischemia	26191	PTPN22	ORPHA:900
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:397
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:3287
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:117
HP:0002637	Cerebral ischemia	3123	HLA-DRB1	ORPHA:397
HP:0002637	Cerebral ischemia	8974	P4HA2	ORPHA:397
HP:0002637	Cerebral ischemia	4352	MPL	ORPHA:71493
HP:0002637	Cerebral ischemia	7066	THPO	ORPHA:71493
HP:0002637	Cerebral ischemia	875	CBS	ORPHA:394
HP:0002637	Cerebral ischemia	5290	PIK3CA	ORPHA:60040
HP:0002637	Cerebral ischemia	162417	NAGS	ORPHA:927
HP:0002637	Cerebral ischemia	4625	MYH7	ORPHA:1880
HP:0002637	Cerebral ischemia	6804	STX1A	ORPHA:904
HP:0002637	Cerebral ischemia	7461	CLIP2	ORPHA:904
HP:0002637	Cerebral ischemia	84277	DNAJC30	ORPHA:904
HP:0002637	Cerebral ischemia	8468	FKBP6	ORPHA:904
HP:0002637	Cerebral ischemia	5982	RFC2	ORPHA:904
HP:0002637	Cerebral ischemia	2969	GTF2I	ORPHA:904
HP:0002637	Cerebral ischemia	3984	LIMK1	ORPHA:904
HP:0002637	Cerebral ischemia	9569	GTF2IRD1	ORPHA:904
HP:0002637	Cerebral ischemia	155382	VPS37D	ORPHA:904
HP:0002637	Cerebral ischemia	155368	METTL27	ORPHA:904
HP:0002637	Cerebral ischemia	114049	BUD23	ORPHA:904
HP:0002637	Cerebral ischemia	7458	EIF4H	ORPHA:904
HP:0002637	Cerebral ischemia	84163	GTF2IRD2	ORPHA:904
HP:0002637	Cerebral ischemia	9275	BCL7B	ORPHA:904
HP:0002637	Cerebral ischemia	26608	TBL2	ORPHA:904
HP:0002637	Cerebral ischemia	653361	NCF1	ORPHA:904
HP:0002637	Cerebral ischemia	135886	TMEM270	ORPHA:904
HP:0002637	Cerebral ischemia	51085	MLXIPL	ORPHA:904
HP:0002637	Cerebral ischemia	9031	BAZ1B	ORPHA:904
HP:0002637	Cerebral ischemia	6340	SCNN1G	ORPHA:526
HP:0002637	Cerebral ischemia	6338	SCNN1B	ORPHA:526
HP:0002637	Cerebral ischemia	6337	SCNN1A	ORPHA:526
HP:0002637	Cerebral ischemia	3593	IL12B	ORPHA:3287
HP:0002637	Cerebral ischemia	6945	MLX	ORPHA:3287
HP:0002637	Cerebral ischemia	1493	CTLA4	ORPHA:900
HP:0002637	Cerebral ischemia	3115	HLA-DPB1	ORPHA:900
HP:0002637	Cerebral ischemia	5657	PRTN3	ORPHA:900
HP:0002637	Cerebral ischemia	3113	HLA-DPA1	ORPHA:900
HP:0002637	Cerebral ischemia	8517	IKBKG	ORPHA:464
HP:0002637	Cerebral ischemia	351	APP	OMIM:605714
HP:0002637	Cerebral ischemia	2050	EPHB4	ORPHA:137667
HP:0002637	Cerebral ischemia	5921	RASA1	ORPHA:137667
HP:0002637	Cerebral ischemia	149233	IL23R	ORPHA:117
HP:0002637	Cerebral ischemia	6775	STAT4	ORPHA:117
HP:0002637	Cerebral ischemia	3586	IL10	ORPHA:117
HP:0002637	Cerebral ischemia	4210	MEFV	ORPHA:117
HP:0002637	Cerebral ischemia	1230	CCR1	ORPHA:117
HP:0002637	Cerebral ischemia	355	FAS	ORPHA:117
HP:0002637	Cerebral ischemia	3592	IL12A	ORPHA:117
HP:0002637	Cerebral ischemia	101928376	IL12A-AS1	ORPHA:117
HP:0002637	Cerebral ischemia	7099	TLR4	ORPHA:117
HP:0002637	Cerebral ischemia	3459	IFNGR1	ORPHA:117
HP:0002637	Cerebral ischemia	720	C4A	ORPHA:117
HP:0002637	Cerebral ischemia	337867	UBAC2	ORPHA:117
HP:0002637	Cerebral ischemia	51752	ERAP1	ORPHA:117
HP:0002637	Cerebral ischemia	8302	KLRC4	ORPHA:117
HP:0002637	Cerebral ischemia	1499	CTNNB1	ORPHA:54595
HP:0002637	Cerebral ischemia	673	BRAF	ORPHA:54595
HP:0002637	Cerebral ischemia	79709	COLGALT1	OMIM:618360
HP:0002637	Cerebral ischemia	4668	NAGA	OMIM:609242
HP:0002637	Cerebral ischemia	5286	PIK3C2A	OMIM:618440
HP:0002638	Superficial thrombophlebitis	5627	PROS1	OMIM:614514
HP:0002638	Superficial thrombophlebitis	5627	PROS1	OMIM:612336
HP:0002638	Superficial thrombophlebitis	5624	PROC	OMIM:612304
HP:0002638	Superficial thrombophlebitis	5624	PROC	OMIM:176860
HP:0002638	Superficial thrombophlebitis	462	SERPINC1	ORPHA:82
HP:0002639	Budd-Chiari syndrome	2153	F5	OMIM:600880
HP:0002639	Budd-Chiari syndrome	3717	JAK2	OMIM:600880
HP:0002639	Budd-Chiari syndrome	3717	JAK2	ORPHA:729
HP:0002639	Budd-Chiari syndrome	3717	JAK2	OMIM:263300
HP:0002639	Budd-Chiari syndrome	4352	MPL	ORPHA:729
HP:0002639	Budd-Chiari syndrome	54790	TET2	ORPHA:729
HP:0002639	Budd-Chiari syndrome	26277	TINF2	OMIM:127550
HP:0002639	Budd-Chiari syndrome	7012	TERC	OMIM:127550
HP:0002639	Budd-Chiari syndrome	7015	TERT	OMIM:127550
HP:0002639	Budd-Chiari syndrome	1604	CD55	OMIM:226300
HP:0002639	Budd-Chiari syndrome	5277	PIGA	ORPHA:447
HP:0012852	Hepatic bridging fibrosis	7289	TULP3	OMIM:619902
HP:0012852	Hepatic bridging fibrosis	3988	LIPA	OMIM:278000
HP:0012852	Hepatic bridging fibrosis	54532	USP53	OMIM:619658
HP:0012852	Hepatic bridging fibrosis	57410	SCYL1	OMIM:616719
HP:0012852	Hepatic bridging fibrosis	9420	CYP7B1	OMIM:613812
HP:0012852	Hepatic bridging fibrosis	60561	RINT1	OMIM:618641
HP:0012852	Hepatic bridging fibrosis	51473	DCDC2	OMIM:617394
HP:0012852	Hepatic bridging fibrosis	8772	FADD	OMIM:613759
HP:0012852	Hepatic bridging fibrosis	537	ATP6AP1	OMIM:300972
HP:0012852	Hepatic bridging fibrosis	113220	KIF12	OMIM:619662
HP:0012853	Scrotal hypospadias	3284	HSD3B2	OMIM:201810
HP:0012853	Scrotal hypospadias	1528	CYB5A	OMIM:250790
HP:0012854	Midshaft hypospadias	1583	CYP11A1	ORPHA:289548
HP:0012854	Midshaft hypospadias	1583	CYP11A1	ORPHA:168558
HP:0012855	Scrotal hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0012856	Abnormal scrotal rugation	6662	SOX9	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	2516	NR5A1	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	6736	SRY	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	114034	TOE1	ORPHA:284339
HP:0012856	Abnormal scrotal rugation	9562	MINPP1	ORPHA:284339
HP:0012850	Small intestinal dysmotility	5428	POLG	ORPHA:298
HP:0012850	Small intestinal dysmotility	1890	TYMP	ORPHA:298
HP:0012850	Small intestinal dysmotility	3980	LIG3	ORPHA:298
HP:0012850	Small intestinal dysmotility	50484	RRM2B	ORPHA:298
HP:0012850	Small intestinal dysmotility	283446	MYO1H	OMIM:619482
HP:0012850	Small intestinal dysmotility	1371	CPOX	ORPHA:79273
HP:0009800	Maternal diabetes	3767	KCNJ11	ORPHA:276580
HP:0009800	Maternal diabetes	3767	KCNJ11	OMIM:610582
HP:0009800	Maternal diabetes	3767	KCNJ11	OMIM:616329
HP:0009800	Maternal diabetes	3767	KCNJ11	ORPHA:99886
HP:0009800	Maternal diabetes	2260	FGFR1	ORPHA:280200
HP:0009800	Maternal diabetes	2260	FGFR1	ORPHA:3157
HP:0009800	Maternal diabetes	28514	DLL1	ORPHA:280200
HP:0009800	Maternal diabetes	2253	FGF8	ORPHA:280200
HP:0009800	Maternal diabetes	6496	SIX3	ORPHA:280200
HP:0009800	Maternal diabetes	7050	TGIF1	ORPHA:280200
HP:0009800	Maternal diabetes	4838	NODAL	ORPHA:280200
HP:0009800	Maternal diabetes	6469	SHH	ORPHA:280200
HP:0009800	Maternal diabetes	51684	SUFU	ORPHA:280200
HP:0009800	Maternal diabetes	7546	ZIC2	ORPHA:280200
HP:0009800	Maternal diabetes	2619	GAS1	ORPHA:280200
HP:0009800	Maternal diabetes	84976	DISP1	ORPHA:280200
HP:0009800	Maternal diabetes	2736	GLI2	ORPHA:280200
HP:0009800	Maternal diabetes	8928	FOXH1	ORPHA:280200
HP:0009800	Maternal diabetes	5727	PTCH1	ORPHA:280200
HP:0009800	Maternal diabetes	50937	CDON	ORPHA:280200
HP:0009800	Maternal diabetes	2215	FCGR3B	ORPHA:464370
HP:0009800	Maternal diabetes	11330	CTRC	ORPHA:103918
HP:0009800	Maternal diabetes	6690	SPINK1	ORPHA:103918
HP:0009800	Maternal diabetes	8260	NAA10	OMIM:300855
HP:0009800	Maternal diabetes	5468	PPARG	ORPHA:79083
HP:0009800	Maternal diabetes	5468	PPARG	OMIM:604367
HP:0009800	Maternal diabetes	81839	VANGL1	ORPHA:3027
HP:0009800	Maternal diabetes	80199	FUZ	ORPHA:3027
HP:0009800	Maternal diabetes	4524	MTHFR	ORPHA:563612
HP:0009800	Maternal diabetes	4524	MTHFR	ORPHA:563609
HP:0009800	Maternal diabetes	57216	VANGL2	ORPHA:563612
HP:0009800	Maternal diabetes	57216	VANGL2	ORPHA:563609
HP:0009800	Maternal diabetes	6927	HNF1A	ORPHA:324575
HP:0009800	Maternal diabetes	2697	GJA1	ORPHA:2248
HP:0009800	Maternal diabetes	1482	NKX2-5	ORPHA:2248
HP:0009800	Maternal diabetes	128674	PROKR2	ORPHA:3157
HP:0009800	Maternal diabetes	6657	SOX2	ORPHA:3157
HP:0009800	Maternal diabetes	6658	SOX3	ORPHA:3157
HP:0009800	Maternal diabetes	9915	ARNT2	ORPHA:3157
HP:0009800	Maternal diabetes	8820	HESX1	ORPHA:3157
HP:0009800	Maternal diabetes	5015	OTX2	ORPHA:3157
HP:0009800	Maternal diabetes	1280	COL2A1	ORPHA:93346
HP:0009800	Maternal diabetes	1188	CLCNKB	ORPHA:358
HP:0009800	Maternal diabetes	6559	SLC12A3	ORPHA:358
HP:0009800	Maternal diabetes	346171	ZFP57	ORPHA:99886
HP:0009800	Maternal diabetes	57061	HYMAI	ORPHA:99886
HP:0009800	Maternal diabetes	6833	ABCC8	ORPHA:99886
HP:0009800	Maternal diabetes	5325	PLAGL1	ORPHA:99886
HP:0009802	Aplasia of the phalanges of the hand	2697	GJA1	OMIM:186100
HP:0009802	Aplasia of the phalanges of the hand	526	ATP6V1B2	OMIM:124480
HP:0009802	Aplasia of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0009802	Aplasia of the phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009802	Aplasia of the phalanges of the hand	658	BMPR1B	OMIM:609441
HP:0009802	Aplasia of the phalanges of the hand	2263	FGFR2	OMIM:149730
HP:0009802	Aplasia of the phalanges of the hand	7516	XRCC2	OMIM:617247
HP:0009802	Aplasia of the phalanges of the hand	2177	FANCD2	OMIM:227646
HP:0009802	Aplasia of the phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009802	Aplasia of the phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009802	Aplasia of the phalanges of the hand	64327	LMBR1	ORPHA:93321
HP:0009802	Aplasia of the phalanges of the hand	6469	SHH	ORPHA:93321
HP:0009802	Aplasia of the phalanges of the hand	7204	TRIO	ORPHA:476126
HP:0009802	Aplasia of the phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009802	Aplasia of the phalanges of the hand	4000	LMNA	OMIM:610140
HP:0009804	Tooth agenesis	10749	KIF1C	ORPHA:397946
HP:0009804	Tooth agenesis	2245	FGD1	OMIM:305400
HP:0009804	Tooth agenesis	54517	PUS7	OMIM:618342
HP:0009804	Tooth agenesis	51728	POLR3K	OMIM:619310
HP:0009804	Tooth agenesis	51	ACOX1	ORPHA:2971
HP:0009804	Tooth agenesis	64324	NSD1	ORPHA:821
HP:0009804	Tooth agenesis	29072	SETD2	ORPHA:821
HP:0009804	Tooth agenesis	10297	APC2	ORPHA:821
HP:0009804	Tooth agenesis	55593	OTUD5	OMIM:301056
HP:0009804	Tooth agenesis	2296	FOXC1	ORPHA:782
HP:0009804	Tooth agenesis	2296	FOXC1	OMIM:602482
HP:0009804	Tooth agenesis	221496	LEMD2	OMIM:619322
HP:0009804	Tooth agenesis	1387	CREBBP	ORPHA:353281
HP:0009804	Tooth agenesis	1387	CREBBP	ORPHA:353277
HP:0009804	Tooth agenesis	387119	CEP85L	OMIM:618873
HP:0009804	Tooth agenesis	3313	HSPA9	OMIM:616854
HP:0009804	Tooth agenesis	4792	NFKBIA	OMIM:612132
HP:0009804	Tooth agenesis	8085	KMT2D	ORPHA:2322
HP:0009804	Tooth agenesis	7403	KDM6A	ORPHA:2322
HP:0009804	Tooth agenesis	7403	KDM6A	OMIM:300867
HP:0009804	Tooth agenesis	2033	EP300	ORPHA:353284
HP:0009804	Tooth agenesis	999	CDH1	OMIM:119580
HP:0009804	Tooth agenesis	51360	MBTPS2	ORPHA:659
HP:0009804	Tooth agenesis	162514	TRPV3	ORPHA:659
HP:0009804	Tooth agenesis	64065	PERP	ORPHA:659
HP:0009804	Tooth agenesis	57539	WDR35	ORPHA:1515
HP:0009804	Tooth agenesis	112752	IFT43	ORPHA:1515
HP:0009804	Tooth agenesis	51098	IFT52	ORPHA:1515
HP:0009804	Tooth agenesis	57728	WDR19	ORPHA:1515
HP:0009804	Tooth agenesis	4038	LRP4	ORPHA:3258
HP:0009804	Tooth agenesis	4038	LRP4	OMIM:212780
HP:0009804	Tooth agenesis	324	APC	ORPHA:3258
HP:0009804	Tooth agenesis	6926	TBX3	ORPHA:3138
HP:0009804	Tooth agenesis	6926	TBX3	OMIM:181450
HP:0009804	Tooth agenesis	4297	KMT2A	OMIM:605130
HP:0009804	Tooth agenesis	10940	POP1	OMIM:617396
HP:0009804	Tooth agenesis	1513	CTSK	OMIM:265800
HP:0009804	Tooth agenesis	1513	CTSK	ORPHA:763
HP:0009804	Tooth agenesis	10265	IRX5	OMIM:611174
HP:0009804	Tooth agenesis	8200	GDF5	ORPHA:63442
HP:0009804	Tooth agenesis	64131	XYLT1	OMIM:615777
HP:0009804	Tooth agenesis	84100	ARL6	OMIM:209900
HP:0009804	Tooth agenesis	79140	CCDC28B	OMIM:209900
HP:0009804	Tooth agenesis	582	BBS1	OMIM:209900
HP:0009804	Tooth agenesis	64359	NXN	ORPHA:1507
HP:0009804	Tooth agenesis	4920	ROR2	ORPHA:1507
HP:0009804	Tooth agenesis	7080	NKX2-1	ORPHA:209905
HP:0009804	Tooth agenesis	5566	PRKACA	ORPHA:289
HP:0009804	Tooth agenesis	5567	PRKACB	ORPHA:289
HP:0009804	Tooth agenesis	5567	PRKACB	OMIM:619143
HP:0009804	Tooth agenesis	2735	GLI1	ORPHA:289
HP:0009804	Tooth agenesis	2121	EVC	ORPHA:289
HP:0009804	Tooth agenesis	2121	EVC	ORPHA:952
HP:0009804	Tooth agenesis	2121	EVC	OMIM:225500
HP:0009804	Tooth agenesis	51626	DYNC2LI1	ORPHA:289
HP:0009804	Tooth agenesis	51626	DYNC2LI1	OMIM:617088
HP:0009804	Tooth agenesis	132884	EVC2	ORPHA:289
HP:0009804	Tooth agenesis	132884	EVC2	ORPHA:952
HP:0009804	Tooth agenesis	132884	EVC2	OMIM:225500
HP:0009804	Tooth agenesis	8091	HMGA2	ORPHA:94063
HP:0009804	Tooth agenesis	23592	LEMD3	ORPHA:94063
HP:0009804	Tooth agenesis	10815	CPLX1	ORPHA:280
HP:0009804	Tooth agenesis	10815	CPLX1	OMIM:194190
HP:0009804	Tooth agenesis	54872	PIGG	ORPHA:280
HP:0009804	Tooth agenesis	7469	NELFA	ORPHA:280
HP:0009804	Tooth agenesis	1487	CTBP1	ORPHA:280
HP:0009804	Tooth agenesis	1487	CTBP1	OMIM:194190
HP:0009804	Tooth agenesis	3954	LETM1	ORPHA:280
HP:0009804	Tooth agenesis	3954	LETM1	OMIM:194190
HP:0009804	Tooth agenesis	7468	NSD2	ORPHA:280
HP:0009804	Tooth agenesis	7468	NSD2	OMIM:194190
HP:0009804	Tooth agenesis	9509	ADAMTS2	OMIM:225410
HP:0009804	Tooth agenesis	4591	TRIM37	OMIM:253250
HP:0009804	Tooth agenesis	55012	PPP2R3C	OMIM:618419
HP:0009804	Tooth agenesis	6023	RMRP	OMIM:607095
HP:0009804	Tooth agenesis	5573	PRKAR1A	OMIM:101800
HP:0009804	Tooth agenesis	3737	KCNA2	ORPHA:442835
HP:0009804	Tooth agenesis	1759	DNM1	ORPHA:442835
HP:0009804	Tooth agenesis	8120	AP3B2	ORPHA:442835
HP:0009804	Tooth agenesis	523	ATP6V1A	ORPHA:442835
HP:0009804	Tooth agenesis	10991	SLC38A3	ORPHA:442835
HP:0009804	Tooth agenesis	51343	FZR1	ORPHA:442835
HP:0009804	Tooth agenesis	22906	TRAK1	ORPHA:442835
HP:0009804	Tooth agenesis	2566	GABRG2	ORPHA:442835
HP:0009804	Tooth agenesis	1917	EEF1A2	ORPHA:442835
HP:0009804	Tooth agenesis	2561	GABRB2	ORPHA:442835
HP:0009804	Tooth agenesis	8831	SYNGAP1	ORPHA:442835
HP:0009804	Tooth agenesis	7532	YWHAG	ORPHA:442835
HP:0009804	Tooth agenesis	79876	UBA5	ORPHA:442835
HP:0009804	Tooth agenesis	6328	SCN3A	ORPHA:442835
HP:0009804	Tooth agenesis	2558	GABRA5	ORPHA:442835
HP:0009804	Tooth agenesis	781	CACNA2D1	ORPHA:442835
HP:0009804	Tooth agenesis	2906	GRIN2D	ORPHA:442835
HP:0009804	Tooth agenesis	116150	NUS1	ORPHA:442835
HP:0009804	Tooth agenesis	10659	CELF2	ORPHA:442835
HP:0009804	Tooth agenesis	774	CACNA1B	ORPHA:442835
HP:0009804	Tooth agenesis	1213	CLTC	ORPHA:442835
HP:0009804	Tooth agenesis	51741	WWOX	ORPHA:442835
HP:0009804	Tooth agenesis	23334	SZT2	ORPHA:442835
HP:0009804	Tooth agenesis	51412	ACTL6B	ORPHA:442835
HP:0009804	Tooth agenesis	348980	HCN1	ORPHA:442835
HP:0009804	Tooth agenesis	6506	SLC1A2	ORPHA:442835
HP:0009804	Tooth agenesis	8867	SYNJ1	ORPHA:442835
HP:0009804	Tooth agenesis	2258	FGF13	ORPHA:442835
HP:0009804	Tooth agenesis	477	ATP1A2	ORPHA:442835
HP:0009804	Tooth agenesis	3745	KCNB1	ORPHA:442835
HP:0009804	Tooth agenesis	284111	SLC13A5	ORPHA:442835
HP:0009804	Tooth agenesis	284111	SLC13A5	OMIM:615905
HP:0009804	Tooth agenesis	25977	NECAP1	ORPHA:442835
HP:0009804	Tooth agenesis	16	AARS1	ORPHA:442835
HP:0009804	Tooth agenesis	6334	SCN8A	ORPHA:442835
HP:0009804	Tooth agenesis	22866	CNKSR2	ORPHA:442835
HP:0009804	Tooth agenesis	9568	GABBR2	ORPHA:442835
HP:0009804	Tooth agenesis	2555	GABRA2	ORPHA:442835
HP:0009804	Tooth agenesis	55152	DALRD3	ORPHA:442835
HP:0009804	Tooth agenesis	773	CACNA1A	ORPHA:442835
HP:0009804	Tooth agenesis	26999	CYFIP2	ORPHA:442835
HP:0009804	Tooth agenesis	4915	NTRK2	ORPHA:442835
HP:0009804	Tooth agenesis	25973	PARS2	ORPHA:442835
HP:0009804	Tooth agenesis	23097	CDK19	ORPHA:442835
HP:0009804	Tooth agenesis	64801	ARV1	ORPHA:442835
HP:0009804	Tooth agenesis	79947	DHDDS	ORPHA:442835
HP:0009804	Tooth agenesis	2257	FGF12	ORPHA:442835
HP:0009804	Tooth agenesis	5530	PPP3CA	ORPHA:442835
HP:0009804	Tooth agenesis	478	ATP1A3	ORPHA:442835
HP:0009804	Tooth agenesis	3756	KCNH1	ORPHA:3473
HP:0009804	Tooth agenesis	3782	KCNN3	ORPHA:3473
HP:0009804	Tooth agenesis	53834	FGFRL1	OMIM:194190
HP:0009804	Tooth agenesis	9487	PIGL	ORPHA:3474
HP:0009804	Tooth agenesis	55131	RBM28	ORPHA:157954
HP:0009804	Tooth agenesis	55131	RBM28	OMIM:612079
HP:0009804	Tooth agenesis	134218	DNAJC21	OMIM:617052
HP:0009804	Tooth agenesis	3914	LAMB3	OMIM:226650
HP:0009804	Tooth agenesis	117581	TWIST2	OMIM:209885
HP:0009804	Tooth agenesis	6804	STX1A	ORPHA:904
HP:0009804	Tooth agenesis	7461	CLIP2	ORPHA:904
HP:0009804	Tooth agenesis	84277	DNAJC30	ORPHA:904
HP:0009804	Tooth agenesis	8468	FKBP6	ORPHA:904
HP:0009804	Tooth agenesis	5982	RFC2	ORPHA:904
HP:0009804	Tooth agenesis	2969	GTF2I	ORPHA:904
HP:0009804	Tooth agenesis	3984	LIMK1	ORPHA:904
HP:0009804	Tooth agenesis	9569	GTF2IRD1	ORPHA:904
HP:0009804	Tooth agenesis	155382	VPS37D	ORPHA:904
HP:0009804	Tooth agenesis	155368	METTL27	ORPHA:904
HP:0009804	Tooth agenesis	114049	BUD23	ORPHA:904
HP:0009804	Tooth agenesis	7458	EIF4H	ORPHA:904
HP:0009804	Tooth agenesis	84163	GTF2IRD2	ORPHA:904
HP:0009804	Tooth agenesis	9275	BCL7B	ORPHA:904
HP:0009804	Tooth agenesis	26608	TBL2	ORPHA:904
HP:0009804	Tooth agenesis	653361	NCF1	ORPHA:904
HP:0009804	Tooth agenesis	135886	TMEM270	ORPHA:904
HP:0009804	Tooth agenesis	51085	MLXIPL	ORPHA:904
HP:0009804	Tooth agenesis	51085	MLXIPL	OMIM:194050
HP:0009804	Tooth agenesis	9031	BAZ1B	ORPHA:904
HP:0009804	Tooth agenesis	2006	ELN	ORPHA:904
HP:0009804	Tooth agenesis	2006	ELN	OMIM:194050
HP:0009804	Tooth agenesis	79005	SCNM1	OMIM:620107
HP:0009804	Tooth agenesis	150468	CKAP2L	OMIM:272440
HP:0009804	Tooth agenesis	4000	LMNA	ORPHA:740
HP:0009804	Tooth agenesis	10269	ZMPSTE24	ORPHA:740
HP:0009804	Tooth agenesis	2261	FGFR3	OMIM:620192
HP:0009804	Tooth agenesis	2261	FGFR3	ORPHA:2363
HP:0009804	Tooth agenesis	10651	MTX2	OMIM:619127
HP:0009804	Tooth agenesis	50485	SMARCAL1	ORPHA:1830
HP:0009804	Tooth agenesis	2255	FGF10	ORPHA:2363
HP:0009804	Tooth agenesis	5295	PIK3R1	OMIM:269880
HP:0009804	Tooth agenesis	23162	MAPK8IP3	OMIM:618443
HP:0009804	Tooth agenesis	79977	GRHL2	OMIM:616029
HP:0009804	Tooth agenesis	8481	OFD1	ORPHA:2750
HP:0009804	Tooth agenesis	2317	FLNB	OMIM:150250
HP:0009804	Tooth agenesis	55181	SMG8	OMIM:619268
HP:0009804	Tooth agenesis	91252	SLC39A13	OMIM:612350
HP:0009804	Tooth agenesis	80169	CTC1	ORPHA:1775
HP:0009804	Tooth agenesis	26277	TINF2	ORPHA:1775
HP:0009804	Tooth agenesis	55651	NHP2	ORPHA:1775
HP:0009804	Tooth agenesis	79650	USB1	ORPHA:1775
HP:0009804	Tooth agenesis	55135	WRAP53	ORPHA:1775
HP:0009804	Tooth agenesis	51750	RTEL1	ORPHA:1775
HP:0009804	Tooth agenesis	4869	NPM1	ORPHA:1775
HP:0009804	Tooth agenesis	7012	TERC	ORPHA:1775
HP:0009804	Tooth agenesis	55505	NOP10	ORPHA:1775
HP:0009804	Tooth agenesis	5073	PARN	ORPHA:1775
HP:0009804	Tooth agenesis	7015	TERT	ORPHA:1775
HP:0009804	Tooth agenesis	1736	DKC1	ORPHA:1775
HP:0009804	Tooth agenesis	7298	TYMS	ORPHA:1775
HP:0009804	Tooth agenesis	4281	MID1	ORPHA:2745
HP:0009804	Tooth agenesis	157657	CFAP418	OMIM:617406
HP:0009804	Tooth agenesis	11342	RNF13	ORPHA:544503
HP:0009804	Tooth agenesis	7189	TRAF6	ORPHA:1810
HP:0009804	Tooth agenesis	126695	KDF1	ORPHA:1810
HP:0009804	Tooth agenesis	128178	EDARADD	OMIM:129490
HP:0009804	Tooth agenesis	128178	EDARADD	OMIM:224900
HP:0009804	Tooth agenesis	10913	EDAR	OMIM:129490
HP:0009804	Tooth agenesis	10913	EDAR	OMIM:224900
HP:0009804	Tooth agenesis	57822	GRHL3	OMIM:606713
HP:0009804	Tooth agenesis	80067	DCAF17	OMIM:241080
HP:0009804	Tooth agenesis	80067	DCAF17	ORPHA:3464
HP:0009804	Tooth agenesis	1857	DVL3	ORPHA:3107
HP:0009804	Tooth agenesis	7474	WNT5A	ORPHA:3107
HP:0009804	Tooth agenesis	1855	DVL1	ORPHA:3107
HP:0009804	Tooth agenesis	2535	FZD2	ORPHA:3107
HP:0009804	Tooth agenesis	5818	NECTIN1	OMIM:225060
HP:0009804	Tooth agenesis	5818	NECTIN1	ORPHA:3253
HP:0009804	Tooth agenesis	6197	RPS6KA3	ORPHA:276630
HP:0009804	Tooth agenesis	55764	IFT122	OMIM:218330
HP:0009804	Tooth agenesis	1161	ERCC8	ORPHA:90321
HP:0009804	Tooth agenesis	1161	ERCC8	ORPHA:90322
HP:0009804	Tooth agenesis	2072	ERCC4	ORPHA:90321
HP:0009804	Tooth agenesis	2074	ERCC6	ORPHA:90321
HP:0009804	Tooth agenesis	2074	ERCC6	ORPHA:90322
HP:0009804	Tooth agenesis	2067	ERCC1	ORPHA:90322
HP:0009804	Tooth agenesis	64840	PORCN	OMIM:305600
HP:0009804	Tooth agenesis	8313	AXIN2	OMIM:608615
HP:0009804	Tooth agenesis	8313	AXIN2	ORPHA:99798
HP:0009804	Tooth agenesis	55703	POLR3B	OMIM:614381
HP:0009804	Tooth agenesis	55703	POLR3B	OMIM:607694
HP:0009804	Tooth agenesis	84265	POLR3GL	OMIM:619234
HP:0009804	Tooth agenesis	29957	SLC25A24	ORPHA:2095
HP:0009804	Tooth agenesis	29957	SLC25A24	OMIM:612289
HP:0009804	Tooth agenesis	22856	CHSY1	ORPHA:363417
HP:0009804	Tooth agenesis	26128	KIFBP	OMIM:609460
HP:0009804	Tooth agenesis	23394	ADNP	OMIM:615873
HP:0009804	Tooth agenesis	29123	ANKRD11	ORPHA:2332
HP:0009804	Tooth agenesis	29123	ANKRD11	OMIM:148050
HP:0009804	Tooth agenesis	11128	POLR3A	ORPHA:447896
HP:0009804	Tooth agenesis	11128	POLR3A	OMIM:607694
HP:0009804	Tooth agenesis	64094	SMOC2	OMIM:125400
HP:0009804	Tooth agenesis	5745	PTH1R	OMIM:600002
HP:0009804	Tooth agenesis	4054	LTBP3	OMIM:601216
HP:0009804	Tooth agenesis	6452	SH3BP2	ORPHA:184
HP:0009804	Tooth agenesis	6452	SH3BP2	OMIM:118400
HP:0009804	Tooth agenesis	7204	TRIO	OMIM:617061
HP:0009804	Tooth agenesis	54880	BCOR	OMIM:300166
HP:0009804	Tooth agenesis	54880	BCOR	ORPHA:2712
HP:0009804	Tooth agenesis	4094	MAF	ORPHA:1272
HP:0009804	Tooth agenesis	5744	PTHLH	OMIM:613382
HP:0009804	Tooth agenesis	23314	SATB2	ORPHA:251019
HP:0009804	Tooth agenesis	23314	SATB2	OMIM:612313
HP:0009804	Tooth agenesis	10847	SRCAP	ORPHA:2044
HP:0009804	Tooth agenesis	84919	PPP1R15B	OMIM:616817
HP:0009804	Tooth agenesis	84919	PPP1R15B	ORPHA:391408
HP:0009804	Tooth agenesis	93587	TRMT10A	ORPHA:391408
HP:0009804	Tooth agenesis	9076	CLDN1	ORPHA:59303
HP:0009804	Tooth agenesis	9076	CLDN1	OMIM:607626
HP:0009804	Tooth agenesis	83999	KREMEN1	OMIM:617392
HP:0009804	Tooth agenesis	3190	HNRNPK	OMIM:616580
HP:0009804	Tooth agenesis	5286	PIK3C2A	OMIM:618440
HP:0009804	Tooth agenesis	5286	PIK3C2A	ORPHA:557003
HP:0009804	Tooth agenesis	387	RHOA	OMIM:618727
HP:0009804	Tooth agenesis	6885	MAP3K7	ORPHA:1826
HP:0009804	Tooth agenesis	5308	PITX2	OMIM:180500
HP:0009804	Tooth agenesis	3759	KCNJ2	OMIM:170390
HP:0009804	Tooth agenesis	3759	KCNJ2	ORPHA:37553
HP:0009804	Tooth agenesis	147372	CCBE1	OMIM:235510
HP:0009804	Tooth agenesis	2260	FGFR1	ORPHA:99798
HP:0009804	Tooth agenesis	4487	MSX1	ORPHA:99798
HP:0009804	Tooth agenesis	7341	SUMO1	ORPHA:99798
HP:0009804	Tooth agenesis	80326	WNT10A	ORPHA:99798
HP:0009804	Tooth agenesis	3664	IRF6	ORPHA:99798
HP:0009804	Tooth agenesis	4040	LRP6	ORPHA:99798
HP:0009804	Tooth agenesis	7039	TGFA	ORPHA:99798
HP:0009804	Tooth agenesis	197131	UBR1	ORPHA:2315
HP:0009804	Tooth agenesis	79644	SRD5A3	ORPHA:324737
HP:0009804	Tooth agenesis	222663	SCUBE3	OMIM:619184
HP:0009804	Tooth agenesis	64919	BCL11B	OMIM:618092
HP:0009804	Tooth agenesis	1523	CUX1	OMIM:618330
HP:0009804	Tooth agenesis	25871	NEPRO	OMIM:618853
HP:0009804	Tooth agenesis	8517	IKBKG	OMIM:308300
HP:0009804	Tooth agenesis	3762	KCNJ5	ORPHA:37553
HP:0009804	Tooth agenesis	54084	TSPEAR	OMIM:620173
HP:0009804	Tooth agenesis	10075	HUWE1	OMIM:309590
HP:0009804	Tooth agenesis	641	BLM	OMIM:210900
HP:0009804	Tooth agenesis	2071	ERCC3	OMIM:616390
HP:0009804	Tooth agenesis	8260	NAA10	OMIM:309800
HP:0009804	Tooth agenesis	145173	B3GLCT	OMIM:261540
HP:0009804	Tooth agenesis	8626	TP63	OMIM:106260
HP:0009804	Tooth agenesis	8626	TP63	OMIM:604292
HP:0009804	Tooth agenesis	7480	WNT10B	OMIM:617073
HP:0009804	Tooth agenesis	2316	FLNA	OMIM:305620
HP:0009804	Tooth agenesis	2316	FLNA	OMIM:311300
HP:0009804	Tooth agenesis	64388	GREM2	OMIM:617275
HP:0009804	Tooth agenesis	1001	CDH3	OMIM:225280
HP:0009804	Tooth agenesis	1001	CDH3	ORPHA:1897
HP:0009804	Tooth agenesis	545	ATR	OMIM:210600
HP:0009804	Tooth agenesis	1896	EDA	OMIM:313500
HP:0009804	Tooth agenesis	526	ATP6V1B2	OMIM:124480
HP:0009804	Tooth agenesis	22995	CEP152	OMIM:613823
HP:0009804	Tooth agenesis	2697	GJA1	OMIM:164200
HP:0009804	Tooth agenesis	4750	NEK1	ORPHA:2751
HP:0009804	Tooth agenesis	284252	KCTD1	OMIM:181270
HP:0009804	Tooth agenesis	716	C1S	ORPHA:75392
HP:0009804	Tooth agenesis	715	C1R	ORPHA:75392
HP:0009804	Tooth agenesis	51715	RAB23	OMIM:201000
HP:0009804	Tooth agenesis	5888	RAD51	OMIM:617244
HP:0009804	Tooth agenesis	23184	MESD	OMIM:618644
HP:0009804	Tooth agenesis	2783	GNB2	OMIM:619503
HP:0009804	Tooth agenesis	9775	EIF4A3	OMIM:268305
HP:0009804	Tooth agenesis	2736	GLI2	OMIM:610829
HP:0009804	Tooth agenesis	1747	DLX3	ORPHA:3352
HP:0009804	Tooth agenesis	9578	CDC42BPB	OMIM:619841
HP:0009804	Tooth agenesis	1009	CDH11	OMIM:211380
HP:0009804	Tooth agenesis	7840	ALMS1	ORPHA:64
HP:0009804	Tooth agenesis	157680	VPS13B	ORPHA:193
HP:0009804	Tooth agenesis	9508	ADAMTS3	ORPHA:2136
HP:0009804	Tooth agenesis	79633	FAT4	ORPHA:2136
HP:0009804	Tooth agenesis	9401	RECQL4	ORPHA:221016
HP:0009804	Tooth agenesis	5728	PTEN	ORPHA:744
HP:0009804	Tooth agenesis	207	AKT1	ORPHA:744
HP:0009804	Tooth agenesis	84172	POLR1B	ORPHA:861
HP:0009804	Tooth agenesis	9533	POLR1C	ORPHA:861
HP:0009804	Tooth agenesis	51082	POLR1D	ORPHA:861
HP:0009804	Tooth agenesis	6949	TCOF1	ORPHA:861
HP:0009804	Tooth agenesis	1298	COL9A2	OMIM:600204
HP:0009804	Tooth agenesis	2263	FGFR2	ORPHA:1555
HP:0009804	Tooth agenesis	1717	DHCR7	ORPHA:818
HP:0009804	Tooth agenesis	4952	OCRL	ORPHA:534
HP:0009804	Tooth agenesis	5980	REV3L	ORPHA:570
HP:0009804	Tooth agenesis	23129	PLXND1	ORPHA:570
HP:0009804	Tooth agenesis	84068	SLC10A7	OMIM:618363
HP:0009804	Tooth agenesis	1804	DPP6	ORPHA:2514
HP:0009804	Tooth agenesis	4001	LMNB1	ORPHA:2514
HP:0009804	Tooth agenesis	5116	PCNT	ORPHA:2637
HP:0009804	Tooth agenesis	5116	PCNT	ORPHA:808
HP:0009804	Tooth agenesis	90993	CREB3L1	OMIM:616229
HP:0009804	Tooth agenesis	1062	CENPE	ORPHA:808
HP:0009804	Tooth agenesis	5932	RBBP8	ORPHA:808
HP:0009804	Tooth agenesis	79902	NUP85	ORPHA:808
HP:0009804	Tooth agenesis	84126	ATRIP	ORPHA:808
HP:0009804	Tooth agenesis	55835	CENPJ	ORPHA:808
HP:0009804	Tooth agenesis	10293	TRAIP	ORPHA:808
HP:0009804	Tooth agenesis	10733	PLK4	ORPHA:808
HP:0009804	Tooth agenesis	1832	DSP	OMIM:605676
HP:0009804	Tooth agenesis	1832	DSP	OMIM:615821
HP:0009804	Tooth agenesis	1500	CTNND1	OMIM:617681
HP:0009804	Tooth agenesis	57647	DHX37	OMIM:618731
HP:0009804	Tooth agenesis	7020	TFAP2A	ORPHA:1297
HP:0009804	Tooth agenesis	2690	GHR	ORPHA:633
HP:0009804	Tooth agenesis	10371	SEMA3A	ORPHA:478
HP:0009804	Tooth agenesis	81848	SPRY4	ORPHA:478
HP:0009804	Tooth agenesis	23767	FLRT3	ORPHA:478
HP:0009804	Tooth agenesis	128674	PROKR2	ORPHA:478
HP:0009804	Tooth agenesis	79625	NDNF	ORPHA:478
HP:0009804	Tooth agenesis	2253	FGF8	ORPHA:478
HP:0009804	Tooth agenesis	389549	FEZF1	ORPHA:478
HP:0009804	Tooth agenesis	1630	DCC	ORPHA:478
HP:0009804	Tooth agenesis	3730	ANOS1	ORPHA:478
HP:0009804	Tooth agenesis	54756	IL17RD	ORPHA:478
HP:0009804	Tooth agenesis	6663	SOX10	ORPHA:478
HP:0009804	Tooth agenesis	285025	CCDC141	ORPHA:478
HP:0009804	Tooth agenesis	60675	PROK2	ORPHA:478
HP:0009804	Tooth agenesis	55636	CHD7	ORPHA:478
HP:0009804	Tooth agenesis	1848	DUSP6	ORPHA:478
HP:0009804	Tooth agenesis	6870	TACR3	ORPHA:478
HP:0009804	Tooth agenesis	55717	WDR11	ORPHA:478
HP:0009804	Tooth agenesis	9394	HS6ST1	ORPHA:478
HP:0009804	Tooth agenesis	8820	HESX1	ORPHA:478
HP:0009804	Tooth agenesis	8822	FGF17	ORPHA:478
HP:0009804	Tooth agenesis	1075	CTSC	ORPHA:678
HP:0009804	Tooth agenesis	64682	ANAPC1	ORPHA:221008
HP:0009804	Tooth agenesis	2248	FGF3	ORPHA:2791
HP:0009804	Tooth agenesis	6938	TCF12	OMIM:619718
HP:0009804	Tooth agenesis	5083	PAX9	OMIM:604625
HP:0009804	Tooth agenesis	83479	DDX59	ORPHA:2919
HP:0009804	Tooth agenesis	1748	DLX4	OMIM:616788
HP:0009804	Tooth agenesis	1748	DLX4	ORPHA:199306
HP:0009804	Tooth agenesis	1739	DLG1	ORPHA:199306
HP:0009804	Tooth agenesis	652	BMP4	ORPHA:199306
HP:0009804	Tooth agenesis	5156	PDGFRA	ORPHA:199306
HP:0009804	Tooth agenesis	9411	ARHGAP29	ORPHA:199306
HP:0009804	Tooth agenesis	54101	RIPK4	ORPHA:1401
HP:0002640	Hypertension associated with pheochromocytoma	55654	TMEM127	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	55654	TMEM127	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	5979	RET	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	5979	RET	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	5979	RET	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	4149	MAX	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	4149	MAX	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	7428	VHL	OMIM:171300
HP:0002640	Hypertension associated with pheochromocytoma	7428	VHL	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	7428	VHL	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	1743	DLST	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	2271	FH	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	4763	NF1	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0002641	Peripheral thrombosis	3717	JAK2	OMIM:133100
HP:0002641	Peripheral thrombosis	10019	SH2B3	OMIM:133100
HP:0002641	Peripheral thrombosis	2057	EPOR	OMIM:133100
HP:0002641	Peripheral thrombosis	7428	VHL	OMIM:263400
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	2022	ENG	OMIM:187300
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	1281	COL3A1	ORPHA:286
HP:0002643	Neonatal respiratory distress	374407	DNAJB13	OMIM:617091
HP:0002643	Neonatal respiratory distress	374407	DNAJB13	ORPHA:244
HP:0002643	Neonatal respiratory distress	139212	DNAAF6	OMIM:300991
HP:0002643	Neonatal respiratory distress	139212	DNAAF6	ORPHA:244
HP:0002643	Neonatal respiratory distress	85016	CFAP300	OMIM:618063
HP:0002643	Neonatal respiratory distress	85016	CFAP300	ORPHA:244
HP:0002643	Neonatal respiratory distress	2261	FGFR3	OMIM:187600
HP:0002643	Neonatal respiratory distress	2294	FOXF1	OMIM:265380
HP:0002643	Neonatal respiratory distress	5076	PAX2	ORPHA:97362
HP:0002643	Neonatal respiratory distress	5087	PBX1	ORPHA:97362
HP:0002643	Neonatal respiratory distress	83538	ODAD4	OMIM:617092
HP:0002643	Neonatal respiratory distress	83538	ODAD4	ORPHA:244
HP:0002643	Neonatal respiratory distress	199857	ALG14	OMIM:619036
HP:0002643	Neonatal respiratory distress	5913	RAPSN	OMIM:616326
HP:0002643	Neonatal respiratory distress	10059	DNM1L	OMIM:614388
HP:0002643	Neonatal respiratory distress	29926	GMPPA	OMIM:615510
HP:0002643	Neonatal respiratory distress	55627	SMPD4	OMIM:618622
HP:0002643	Neonatal respiratory distress	23417	MLYCD	OMIM:248360
HP:0002643	Neonatal respiratory distress	8854	ALDH1A2	OMIM:620025
HP:0002643	Neonatal respiratory distress	345895	RSPH4A	OMIM:612649
HP:0002643	Neonatal respiratory distress	345895	RSPH4A	ORPHA:244
HP:0002643	Neonatal respiratory distress	2200	FBN1	ORPHA:284979
HP:0002643	Neonatal respiratory distress	54768	HYDIN	OMIM:608647
HP:0002643	Neonatal respiratory distress	54768	HYDIN	ORPHA:244
HP:0002643	Neonatal respiratory distress	89765	RSPH1	OMIM:615481
HP:0002643	Neonatal respiratory distress	89765	RSPH1	ORPHA:244
HP:0002643	Neonatal respiratory distress	161582	DNAAF4	OMIM:615482
HP:0002643	Neonatal respiratory distress	161582	DNAAF4	ORPHA:244
HP:0002643	Neonatal respiratory distress	23114	NFASC	OMIM:618356
HP:0002643	Neonatal respiratory distress	51119	SBDS	OMIM:260400
HP:0002643	Neonatal respiratory distress	134218	DNAJC21	OMIM:260400
HP:0002643	Neonatal respiratory distress	6729	SRP54	OMIM:260400
HP:0002643	Neonatal respiratory distress	89910	UBE3B	OMIM:244450
HP:0002643	Neonatal respiratory distress	6616	SNAP25	OMIM:616330
HP:0002643	Neonatal respiratory distress	55790	CSGALNACT1	OMIM:618870
HP:0002643	Neonatal respiratory distress	221421	RSPH9	OMIM:612650
HP:0002643	Neonatal respiratory distress	221421	RSPH9	ORPHA:244
HP:0002643	Neonatal respiratory distress	6662	SOX9	OMIM:114290
HP:0002643	Neonatal respiratory distress	6662	SOX9	ORPHA:718
HP:0002643	Neonatal respiratory distress	9200	HACD1	OMIM:619967
HP:0002643	Neonatal respiratory distress	1767	DNAH5	OMIM:608644
HP:0002643	Neonatal respiratory distress	1767	DNAH5	ORPHA:244
HP:0002643	Neonatal respiratory distress	5189	PEX1	OMIM:214100
HP:0002643	Neonatal respiratory distress	4868	NPHS1	OMIM:256300
HP:0002643	Neonatal respiratory distress	6439	SFTPB	OMIM:265120
HP:0002643	Neonatal respiratory distress	6439	SFTPB	ORPHA:217563
HP:0002643	Neonatal respiratory distress	1146	CHRNG	OMIM:265000
HP:0002643	Neonatal respiratory distress	1146	CHRNG	ORPHA:2990
HP:0002643	Neonatal respiratory distress	84987	COX14	OMIM:619053
HP:0002643	Neonatal respiratory distress	55906	ZC4H2	OMIM:314580
HP:0002643	Neonatal respiratory distress	55037	PTCD3	OMIM:619057
HP:0002643	Neonatal respiratory distress	7994	KAT6A	ORPHA:457193
HP:0002643	Neonatal respiratory distress	7994	KAT6A	OMIM:616268
HP:0002643	Neonatal respiratory distress	51008	ASCC1	OMIM:616867
HP:0002643	Neonatal respiratory distress	64131	XYLT1	OMIM:615777
HP:0002643	Neonatal respiratory distress	2917	GRM7	OMIM:618922
HP:0002643	Neonatal respiratory distress	9325	TRIP4	OMIM:616866
HP:0002643	Neonatal respiratory distress	9820	CUL7	OMIM:273750
HP:0002643	Neonatal respiratory distress	7490	WT1	OMIM:194080
HP:0002643	Neonatal respiratory distress	9361	LONP1	ORPHA:79243
HP:0002643	Neonatal respiratory distress	5160	PDHA1	ORPHA:79243
HP:0002643	Neonatal respiratory distress	21	ABCA3	OMIM:610921
HP:0002643	Neonatal respiratory distress	7080	NKX2-1	ORPHA:209905
HP:0002643	Neonatal respiratory distress	7080	NKX2-1	OMIM:610978
HP:0002643	Neonatal respiratory distress	1339	COX6A2	OMIM:619062
HP:0002643	Neonatal respiratory distress	8802	SUCLG1	OMIM:245400
HP:0002643	Neonatal respiratory distress	860	RUNX2	OMIM:119600
HP:0002643	Neonatal respiratory distress	1760	DMPK	ORPHA:589821
HP:0002643	Neonatal respiratory distress	4905	NSF	OMIM:619340
HP:0002643	Neonatal respiratory distress	132158	GLYCTK	OMIM:220120
HP:0002643	Neonatal respiratory distress	5167	ENPP1	OMIM:208000
HP:0002643	Neonatal respiratory distress	2783	GNB2	OMIM:619503
HP:0002643	Neonatal respiratory distress	2752	GLUL	OMIM:610015
HP:0002643	Neonatal respiratory distress	55036	CCDC40	OMIM:613808
HP:0002643	Neonatal respiratory distress	55036	CCDC40	ORPHA:244
HP:0002643	Neonatal respiratory distress	339829	CCDC39	OMIM:613807
HP:0002643	Neonatal respiratory distress	339829	CCDC39	ORPHA:244
HP:0002643	Neonatal respiratory distress	83861	RSPH3	OMIM:616481
HP:0002643	Neonatal respiratory distress	83861	RSPH3	ORPHA:244
HP:0002643	Neonatal respiratory distress	6628	SNRPB	OMIM:117650
HP:0002643	Neonatal respiratory distress	6628	SNRPB	ORPHA:1393
HP:0002643	Neonatal respiratory distress	9851	KIAA0753	OMIM:619479
HP:0002643	Neonatal respiratory distress	57061	HYMAI	ORPHA:96191
HP:0002643	Neonatal respiratory distress	5325	PLAGL1	ORPHA:96191
HP:0002643	Neonatal respiratory distress	4576	MT-TT	ORPHA:254857
HP:0002643	Neonatal respiratory distress	152110	NEK10	OMIM:618781
HP:0002643	Neonatal respiratory distress	152110	NEK10	ORPHA:244
HP:0002643	Neonatal respiratory distress	1861	TOR1A	OMIM:618947
HP:0002643	Neonatal respiratory distress	64446	DNAI2	OMIM:612444
HP:0002643	Neonatal respiratory distress	64446	DNAI2	ORPHA:244
HP:0002643	Neonatal respiratory distress	8021	NUP214	OMIM:618426
HP:0002643	Neonatal respiratory distress	3675	ITGA3	OMIM:614748
HP:0002643	Neonatal respiratory distress	4534	MTM1	OMIM:310400
HP:0002643	Neonatal respiratory distress	8405	SPOP	OMIM:618828
HP:0002643	Neonatal respiratory distress	5293	PIK3CD	ORPHA:221139
HP:0002643	Neonatal respiratory distress	90417	KNSTRN	ORPHA:221139
HP:0002643	Neonatal respiratory distress	415	ARSL	ORPHA:79345
HP:0002643	Neonatal respiratory distress	145258	GSC	OMIM:602471
HP:0002643	Neonatal respiratory distress	4716	NDUFB10	OMIM:619003
HP:0002643	Neonatal respiratory distress	8818	DPM2	OMIM:615042
HP:0002643	Neonatal respiratory distress	8567	MADD	OMIM:619004
HP:0002643	Neonatal respiratory distress	8567	MADD	OMIM:619005
HP:0002643	Neonatal respiratory distress	253959	RALGAPA1	OMIM:618797
HP:0002643	Neonatal respiratory distress	8481	OFD1	OMIM:300209
HP:0002643	Neonatal respiratory distress	8481	OFD1	ORPHA:244
HP:0002643	Neonatal respiratory distress	5205	ATP8B1	ORPHA:69665
HP:0002643	Neonatal respiratory distress	8647	ABCB11	ORPHA:69665
HP:0002643	Neonatal respiratory distress	5244	ABCB4	ORPHA:69665
HP:0002643	Neonatal respiratory distress	9971	NR1H4	ORPHA:69665
HP:0002643	Neonatal respiratory distress	54919	DNAAF5	OMIM:614874
HP:0002643	Neonatal respiratory distress	54919	DNAAF5	ORPHA:244
HP:0002643	Neonatal respiratory distress	51364	ZMYND10	OMIM:615444
HP:0002643	Neonatal respiratory distress	51364	ZMYND10	ORPHA:244
HP:0002643	Neonatal respiratory distress	8292	COLQ	ORPHA:98915
HP:0002643	Neonatal respiratory distress	3913	LAMB2	ORPHA:98915
HP:0002643	Neonatal respiratory distress	124583	CANT1	OMIM:251450
HP:0002643	Neonatal respiratory distress	1376	CPT2	OMIM:608836
HP:0002643	Neonatal respiratory distress	1376	CPT2	ORPHA:228308
HP:0002643	Neonatal respiratory distress	10577	NPC2	OMIM:607625
HP:0002643	Neonatal respiratory distress	92749	DRC1	OMIM:615294
HP:0002643	Neonatal respiratory distress	92749	DRC1	ORPHA:244
HP:0002643	Neonatal respiratory distress	5331	PLCB3	OMIM:618961
HP:0002643	Neonatal respiratory distress	259232	NALCN	OMIM:616266
HP:0002643	Neonatal respiratory distress	84231	TRAF7	OMIM:618164
HP:0002643	Neonatal respiratory distress	5339	PLEC	OMIM:226670
HP:0002643	Neonatal respiratory distress	10463	SLC30A9	OMIM:617595
HP:0002643	Neonatal respiratory distress	55130	ODAD2	OMIM:615451
HP:0002643	Neonatal respiratory distress	55130	ODAD2	ORPHA:244
HP:0002643	Neonatal respiratory distress	4621	MYH3	ORPHA:2990
HP:0002643	Neonatal respiratory distress	25981	DNAH1	ORPHA:244
HP:0002643	Neonatal respiratory distress	115948	ODAD3	ORPHA:244
HP:0002643	Neonatal respiratory distress	352909	DNAAF3	ORPHA:244
HP:0002643	Neonatal respiratory distress	27148	STK36	ORPHA:244
HP:0002643	Neonatal respiratory distress	51314	NME8	ORPHA:244
HP:0002643	Neonatal respiratory distress	54970	TTC12	ORPHA:244
HP:0002643	Neonatal respiratory distress	2302	FOXJ1	ORPHA:244
HP:0002643	Neonatal respiratory distress	2302	FOXJ1	OMIM:618699
HP:0002643	Neonatal respiratory distress	85478	CCDC65	ORPHA:244
HP:0002643	Neonatal respiratory distress	85478	CCDC65	OMIM:615504
HP:0002643	Neonatal respiratory distress	6674	SPAG1	ORPHA:244
HP:0002643	Neonatal respiratory distress	6674	SPAG1	OMIM:615505
HP:0002643	Neonatal respiratory distress	83544	DNAL1	ORPHA:244
HP:0002643	Neonatal respiratory distress	200373	CFAP221	ORPHA:244
HP:0002643	Neonatal respiratory distress	55172	DNAAF2	ORPHA:244
HP:0002643	Neonatal respiratory distress	2622	GAS8	ORPHA:244
HP:0002643	Neonatal respiratory distress	23639	DNAAF11	ORPHA:244
HP:0002643	Neonatal respiratory distress	27019	DNAI1	ORPHA:244
HP:0002643	Neonatal respiratory distress	6103	RPGR	ORPHA:244
HP:0002643	Neonatal respiratory distress	388389	CCDC103	ORPHA:244
HP:0002643	Neonatal respiratory distress	93233	ODAD1	ORPHA:244
HP:0002643	Neonatal respiratory distress	345643	MCIDAS	ORPHA:244
HP:0002643	Neonatal respiratory distress	56683	CFAP298	ORPHA:244
HP:0002643	Neonatal respiratory distress	56683	CFAP298	OMIM:615500
HP:0002643	Neonatal respiratory distress	79925	SPEF2	ORPHA:244
HP:0002643	Neonatal respiratory distress	10309	CCNO	ORPHA:244
HP:0002643	Neonatal respiratory distress	115399	LRRC56	ORPHA:244
HP:0002643	Neonatal respiratory distress	123872	DNAAF1	ORPHA:244
HP:0002643	Neonatal respiratory distress	8701	DNAH11	ORPHA:244
HP:0002643	Neonatal respiratory distress	1770	DNAH9	ORPHA:244
HP:0002643	Neonatal respiratory distress	246176	GAS2L2	ORPHA:244
HP:0002643	Neonatal respiratory distress	171023	ASXL1	OMIM:605039
HP:0002643	Neonatal respiratory distress	667	DST	OMIM:614653
HP:0002643	Neonatal respiratory distress	2719	GPC3	OMIM:312870
HP:0002643	Neonatal respiratory distress	2239	GPC4	OMIM:312870
HP:0002643	Neonatal respiratory distress	29969	MDFIC	OMIM:620014
HP:0002643	Neonatal respiratory distress	6329	SCN4A	ORPHA:684
HP:0002643	Neonatal respiratory distress	3835	KIF22	ORPHA:93360
HP:0002643	Neonatal respiratory distress	10999	SLC27A4	OMIM:608649
HP:0002643	Neonatal respiratory distress	91949	COG7	OMIM:608779
HP:0002643	Neonatal respiratory distress	6595	SMARCA2	ORPHA:2728
HP:0002643	Neonatal respiratory distress	23729	SHPK	ORPHA:440713
HP:0002643	Neonatal respiratory distress	3284	HSD3B2	ORPHA:90791
HP:0002643	Neonatal respiratory distress	165918	RNF168	ORPHA:420741
HP:0002643	Neonatal respiratory distress	274	BIN1	ORPHA:169189
HP:0002643	Neonatal respiratory distress	64419	MTMR14	ORPHA:169189
HP:0002643	Neonatal respiratory distress	4618	MYF6	ORPHA:169189
HP:0002643	Neonatal respiratory distress	1785	DNM2	ORPHA:169189
HP:0002643	Neonatal respiratory distress	6261	RYR1	ORPHA:169189
HP:0002643	Neonatal respiratory distress	501	ALDH7A1	ORPHA:3006
HP:0002643	Neonatal respiratory distress	11212	PLPBP	ORPHA:3006
HP:0002643	Neonatal respiratory distress	2584	GALK1	ORPHA:79237
HP:0002644	Abnormal pelvic girdle bone morphology	28981	IFT81	OMIM:617895
HP:0002644	Abnormal pelvic girdle bone morphology	6223	RPS19	OMIM:105650
HP:0002644	Abnormal pelvic girdle bone morphology	9361	LONP1	OMIM:600373
HP:0002644	Abnormal pelvic girdle bone morphology	9361	LONP1	ORPHA:1458
HP:0002644	Abnormal pelvic girdle bone morphology	6261	RYR1	ORPHA:597
HP:0002644	Abnormal pelvic girdle bone morphology	6261	RYR1	OMIM:117000
HP:0002644	Abnormal pelvic girdle bone morphology	64840	PORCN	OMIM:305600
HP:0002644	Abnormal pelvic girdle bone morphology	6628	SNRPB	OMIM:117650
HP:0002644	Abnormal pelvic girdle bone morphology	9759	HDAC4	OMIM:619797
HP:0002644	Abnormal pelvic girdle bone morphology	5351	PLOD1	OMIM:225400
HP:0002644	Abnormal pelvic girdle bone morphology	134218	DNAJC21	OMIM:617052
HP:0002644	Abnormal pelvic girdle bone morphology	1182	CLCN3	OMIM:619512
HP:0002644	Abnormal pelvic girdle bone morphology	63895	PIEZO2	OMIM:114300
HP:0002644	Abnormal pelvic girdle bone morphology	2138	EYA1	OMIM:113650
HP:0002644	Abnormal pelvic girdle bone morphology	6495	SIX1	OMIM:113650
HP:0002644	Abnormal pelvic girdle bone morphology	84627	ZNF469	OMIM:229200
HP:0002644	Abnormal pelvic girdle bone morphology	55699	IARS2	OMIM:616007
HP:0002644	Abnormal pelvic girdle bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002644	Abnormal pelvic girdle bone morphology	7531	YWHAE	ORPHA:217385
HP:0002644	Abnormal pelvic girdle bone morphology	6885	MAP3K7	OMIM:617137
HP:0002644	Abnormal pelvic girdle bone morphology	9820	CUL7	ORPHA:2616
HP:0002644	Abnormal pelvic girdle bone morphology	23363	OBSL1	ORPHA:2616
HP:0002644	Abnormal pelvic girdle bone morphology	83987	CCDC8	ORPHA:2616
HP:0002644	Abnormal pelvic girdle bone morphology	8239	USP9X	ORPHA:480880
HP:0002644	Abnormal pelvic girdle bone morphology	8195	MKKS	OMIM:236700
HP:0002644	Abnormal pelvic girdle bone morphology	1131	CHRM3	ORPHA:2970
HP:0002644	Abnormal pelvic girdle bone morphology	1131	CHRM3	OMIM:100100
HP:0002644	Abnormal pelvic girdle bone morphology	10060	ABCC9	OMIM:619719
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0002644	Abnormal pelvic girdle bone morphology	9401	RECQL4	OMIM:268400
HP:0002644	Abnormal pelvic girdle bone morphology	89910	UBE3B	OMIM:244450
HP:0002644	Abnormal pelvic girdle bone morphology	1723	DHODH	OMIM:263750
HP:0002644	Abnormal pelvic girdle bone morphology	60482	SLC5A7	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	4649	MYO9A	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	1305	COL13A1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	1103	CHAT	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6576	SLC25A1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6843	VAMP1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	375790	AGRN	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	127833	SYT2	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6572	SLC18A3	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6616	SNAP25	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	5832	ALDH18A1	OMIM:219150
HP:0002644	Abnormal pelvic girdle bone morphology	55768	NGLY1	ORPHA:404454
HP:0002644	Abnormal pelvic girdle bone morphology	2316	FLNA	OMIM:304120
HP:0002644	Abnormal pelvic girdle bone morphology	2273	FHL1	OMIM:300280
HP:0002644	Abnormal pelvic girdle bone morphology	7169	TPM2	OMIM:108120
HP:0002644	Abnormal pelvic girdle bone morphology	7169	TPM2	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	6904	TBCD	ORPHA:496641
HP:0002644	Abnormal pelvic girdle bone morphology	7547	ZIC3	OMIM:306955
HP:0002644	Abnormal pelvic girdle bone morphology	3835	KIF22	OMIM:603546
HP:0002644	Abnormal pelvic girdle bone morphology	2239	GPC4	ORPHA:373
HP:0002644	Abnormal pelvic girdle bone morphology	2719	GPC3	ORPHA:373
HP:0002644	Abnormal pelvic girdle bone morphology	7476	WNT7A	OMIM:228930
HP:0002644	Abnormal pelvic girdle bone morphology	1290	COL5A2	OMIM:130010
HP:0002644	Abnormal pelvic girdle bone morphology	523	ATP6V1A	ORPHA:357074
HP:0002644	Abnormal pelvic girdle bone morphology	529	ATP6V1E1	ORPHA:357074
HP:0002644	Abnormal pelvic girdle bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0002644	Abnormal pelvic girdle bone morphology	5528	PPP2R5D	OMIM:616355
HP:0002644	Abnormal pelvic girdle bone morphology	8260	NAA10	OMIM:300855
HP:0002644	Abnormal pelvic girdle bone morphology	50814	NSDHL	OMIM:308050
HP:0002644	Abnormal pelvic girdle bone morphology	23522	KAT6B	OMIM:606170
HP:0002644	Abnormal pelvic girdle bone morphology	5831	PYCR1	OMIM:612940
HP:0002644	Abnormal pelvic girdle bone morphology	50628	GEMIN4	OMIM:617913
HP:0002644	Abnormal pelvic girdle bone morphology	3339	HSPG2	OMIM:255800
HP:0002644	Abnormal pelvic girdle bone morphology	6913	TBX15	ORPHA:93333
HP:0002644	Abnormal pelvic girdle bone morphology	9896	FIG4	OMIM:216340
HP:0002644	Abnormal pelvic girdle bone morphology	23299	BICD2	OMIM:618291
HP:0002644	Abnormal pelvic girdle bone morphology	22827	PUF60	ORPHA:508488
HP:0002644	Abnormal pelvic girdle bone morphology	1281	COL3A1	ORPHA:286
HP:0002644	Abnormal pelvic girdle bone morphology	57190	SELENON	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	58	ACTA1	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	4633	MYL2	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	3679	ITGA7	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	9200	HACD1	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	7170	TPM3	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	7170	TPM3	OMIM:255310
HP:0002644	Abnormal pelvic girdle bone morphology	51776	MAP3K20	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	51651	PTRH2	ORPHA:456312
HP:0002644	Abnormal pelvic girdle bone morphology	9427	ECEL1	OMIM:615065
HP:0002644	Abnormal pelvic girdle bone morphology	7067	THRA	OMIM:614450
HP:0002644	Abnormal pelvic girdle bone morphology	8085	KMT2D	OMIM:147920
HP:0002644	Abnormal pelvic girdle bone morphology	7403	KDM6A	OMIM:147920
HP:0002644	Abnormal pelvic girdle bone morphology	8838	CCN6	ORPHA:1159
HP:0002644	Abnormal pelvic girdle bone morphology	6775	STAT4	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	3560	IL2RB	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	79722	ANKRD55	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	26191	PTPN22	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	919	CD247	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	3559	IL2RA	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	5771	PTPN2	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	5167	ENPP1	ORPHA:51608
HP:0002644	Abnormal pelvic girdle bone morphology	368	ABCC6	ORPHA:51608
HP:0002644	Abnormal pelvic girdle bone morphology	4625	MYH7	ORPHA:324604
HP:0002644	Abnormal pelvic girdle bone morphology	8243	SMC1A	OMIM:301044
HP:0002644	Abnormal pelvic girdle bone morphology	8243	SMC1A	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	56896	DPYSL5	OMIM:619435
HP:0002644	Abnormal pelvic girdle bone morphology	10054	UBA2	OMIM:619959
HP:0002644	Abnormal pelvic girdle bone morphology	60684	TRAPPC11	OMIM:615356
HP:0002644	Abnormal pelvic girdle bone morphology	55777	MBD5	ORPHA:228402
HP:0002644	Abnormal pelvic girdle bone morphology	55777	MBD5	OMIM:156200
HP:0002644	Abnormal pelvic girdle bone morphology	7681	MKRN3	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	3653	IPW	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:398069
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	791114	PWRN1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	8924	HERC2	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	145624	PWAR1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	23742	NPAP1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	338433	SNORD115-1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	4148	MATN3	ORPHA:93311
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	ORPHA:453504
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	OMIM:616580
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	ORPHA:352665
HP:0002644	Abnormal pelvic girdle bone morphology	4784	NFIX	ORPHA:447980
HP:0002644	Abnormal pelvic girdle bone morphology	4784	NFIX	OMIM:602535
HP:0002644	Abnormal pelvic girdle bone morphology	7372	UMPS	ORPHA:30
HP:0002644	Abnormal pelvic girdle bone morphology	80232	WDR26	ORPHA:513456
HP:0002644	Abnormal pelvic girdle bone morphology	10847	SRCAP	OMIM:136140
HP:0002644	Abnormal pelvic girdle bone morphology	10847	SRCAP	ORPHA:2044
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	OMIM:616975
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	ORPHA:494344
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	478	ATP1A3	OMIM:619606
HP:0002644	Abnormal pelvic girdle bone morphology	6492	SIM1	ORPHA:398079
HP:0002644	Abnormal pelvic girdle bone morphology	2033	EP300	ORPHA:353284
HP:0002644	Abnormal pelvic girdle bone morphology	3097	HIVEP2	OMIM:616977
HP:0002644	Abnormal pelvic girdle bone morphology	23729	SHPK	ORPHA:440713
HP:0002644	Abnormal pelvic girdle bone morphology	6595	SMARCA2	OMIM:619293
HP:0002644	Abnormal pelvic girdle bone morphology	1300	COL10A1	ORPHA:174
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	84720	PIGO	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	93210	PGAP3	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	284098	PIGW	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	27315	PGAP2	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	55650	PIGV	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	9487	PIGL	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	153642	ARSK	OMIM:619698
HP:0002644	Abnormal pelvic girdle bone morphology	10265	IRX5	OMIM:611174
HP:0002644	Abnormal pelvic girdle bone morphology	3423	IDS	ORPHA:217085
HP:0002644	Abnormal pelvic girdle bone morphology	3423	IDS	ORPHA:217093
HP:0002644	Abnormal pelvic girdle bone morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002644	Abnormal pelvic girdle bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0002644	Abnormal pelvic girdle bone morphology	55325	UFSP2	OMIM:142669
HP:0002644	Abnormal pelvic girdle bone morphology	55325	UFSP2	ORPHA:2114
HP:0002644	Abnormal pelvic girdle bone morphology	26276	VPS33B	OMIM:208085
HP:0002644	Abnormal pelvic girdle bone morphology	11342	RNF13	OMIM:618379
HP:0002644	Abnormal pelvic girdle bone morphology	11342	RNF13	ORPHA:544503
HP:0002644	Abnormal pelvic girdle bone morphology	1822	ATN1	OMIM:618494
HP:0002644	Abnormal pelvic girdle bone morphology	57511	COG6	OMIM:614576
HP:0002644	Abnormal pelvic girdle bone morphology	51199	NIN	OMIM:614851
HP:0002644	Abnormal pelvic girdle bone morphology	51199	NIN	ORPHA:319675
HP:0002644	Abnormal pelvic girdle bone morphology	55012	PPP2R3C	OMIM:618419
HP:0002644	Abnormal pelvic girdle bone morphology	63894	VIPAS39	OMIM:613404
HP:0002644	Abnormal pelvic girdle bone morphology	57187	THOC2	ORPHA:457240
HP:0002644	Abnormal pelvic girdle bone morphology	53834	FGFRL1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	1487	CTBP1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	3954	LETM1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	7468	NSD2	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	10815	CPLX1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	64374	SIL1	ORPHA:559
HP:0002644	Abnormal pelvic girdle bone morphology	51763	INPP5K	ORPHA:559
HP:0002644	Abnormal pelvic girdle bone morphology	23476	BRD4	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	9126	SMC3	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	25836	NIPBL	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	55869	HDAC8	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	5885	RAD21	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	50801	KCNK4	OMIM:618381
HP:0002644	Abnormal pelvic girdle bone morphology	5518	PPP2R1A	OMIM:616362
HP:0002644	Abnormal pelvic girdle bone morphology	5518	PPP2R1A	ORPHA:457284
HP:0002644	Abnormal pelvic girdle bone morphology	7874	USP7	ORPHA:500055
HP:0002644	Abnormal pelvic girdle bone morphology	57003	CCDC47	OMIM:618268
HP:0002644	Abnormal pelvic girdle bone morphology	10526	IPO8	OMIM:619472
HP:0002644	Abnormal pelvic girdle bone morphology	1857	DVL3	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	7474	WNT5A	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	1855	DVL1	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	2535	FZD2	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	23233	EXOC6B	ORPHA:93359
HP:0002644	Abnormal pelvic girdle bone morphology	2122	MECOM	ORPHA:71289
HP:0002644	Abnormal pelvic girdle bone morphology	3207	HOXA11	ORPHA:71289
HP:0002644	Abnormal pelvic girdle bone morphology	5590	PRKCZ	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	2563	GABRD	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	23013	SPEN	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	8510	MMP23B	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	7798	LUZP1	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	6497	SKI	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	10630	PDPN	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	10277	UBE4B	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	8514	KCNAB2	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	63976	PRDM16	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	54897	CASZ1	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	81031	SLC2A10	ORPHA:3342
HP:0002644	Abnormal pelvic girdle bone morphology	80036	TRPM3	OMIM:620224
HP:0002644	Abnormal pelvic girdle bone morphology	55027	HEATR3	OMIM:620072
HP:0002644	Abnormal pelvic girdle bone morphology	10236	HNRNPR	OMIM:620073
HP:0002644	Abnormal pelvic girdle bone morphology	55210	ATAD3A	ORPHA:496790
HP:0002644	Abnormal pelvic girdle bone morphology	55210	ATAD3A	OMIM:617183
HP:0002644	Abnormal pelvic girdle bone morphology	1298	COL9A2	OMIM:600204
HP:0002644	Abnormal pelvic girdle bone morphology	8314	BAP1	OMIM:619762
HP:0002644	Abnormal pelvic girdle bone morphology	54928	BPNT2	OMIM:614078
HP:0002644	Abnormal pelvic girdle bone morphology	29123	ANKRD11	ORPHA:261250
HP:0002644	Abnormal pelvic girdle bone morphology	4849	CNOT3	OMIM:618672
HP:0002644	Abnormal pelvic girdle bone morphology	200424	TET3	OMIM:618798
HP:0002644	Abnormal pelvic girdle bone morphology	1277	COL1A1	OMIM:166200
HP:0002644	Abnormal pelvic girdle bone morphology	1277	COL1A1	ORPHA:1899
HP:0002644	Abnormal pelvic girdle bone morphology	2799	GNS	OMIM:252940
HP:0002644	Abnormal pelvic girdle bone morphology	10667	FARS2	ORPHA:466722
HP:0002644	Abnormal pelvic girdle bone morphology	11128	POLR3A	ORPHA:3455
HP:0002644	Abnormal pelvic girdle bone morphology	11107	PRDM5	ORPHA:90354
HP:0002644	Abnormal pelvic girdle bone morphology	7030	TFE3	OMIM:301066
HP:0002644	Abnormal pelvic girdle bone morphology	55898	UNC45A	OMIM:619377
HP:0002644	Abnormal pelvic girdle bone morphology	9968	MED12	OMIM:300895
HP:0002644	Abnormal pelvic girdle bone morphology	55023	PHIP	OMIM:617991
HP:0002644	Abnormal pelvic girdle bone morphology	51780	KDM3B	OMIM:618846
HP:0002644	Abnormal pelvic girdle bone morphology	1387	CREBBP	ORPHA:353277
HP:0002644	Abnormal pelvic girdle bone morphology	1387	CREBBP	OMIM:618332
HP:0002644	Abnormal pelvic girdle bone morphology	203190	LGI3	OMIM:620007
HP:0002644	Abnormal pelvic girdle bone morphology	284058	KANSL1	OMIM:610443
HP:0002644	Abnormal pelvic girdle bone morphology	545	ATR	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	1062	CENPE	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	5932	RBBP8	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	79902	NUP85	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	84126	ATRIP	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	55835	CENPJ	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	10293	TRAIP	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	22995	CEP152	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	10733	PLK4	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	5557	PRIM1	OMIM:620005
HP:0002644	Abnormal pelvic girdle bone morphology	64432	MRPS25	OMIM:619025
HP:0002644	Abnormal pelvic girdle bone morphology	57728	WDR19	OMIM:614378
HP:0002644	Abnormal pelvic girdle bone morphology	51053	GMNN	OMIM:616835
HP:0002644	Abnormal pelvic girdle bone morphology	79628	SH3TC2	ORPHA:99949
HP:0002644	Abnormal pelvic girdle bone morphology	1642	DDB1	OMIM:619426
HP:0002644	Abnormal pelvic girdle bone morphology	55753	OGDHL	OMIM:619701
HP:0002644	Abnormal pelvic girdle bone morphology	9230	RAB11B	OMIM:617807
HP:0002644	Abnormal pelvic girdle bone morphology	1278	COL1A2	ORPHA:1899
HP:0002644	Abnormal pelvic girdle bone morphology	2737	GLI3	ORPHA:93322
HP:0002644	Abnormal pelvic girdle bone morphology	4322	MMP13	ORPHA:2501
HP:0002644	Abnormal pelvic girdle bone morphology	50964	SOST	OMIM:269500
HP:0002644	Abnormal pelvic girdle bone morphology	26160	IFT172	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	51626	DYNC2LI1	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	51626	DYNC2LI1	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	79809	TTC21B	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	6804	STX1A	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7461	CLIP2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	84277	DNAJC30	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	8468	FKBP6	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	5982	RFC2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	2969	GTF2I	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	3984	LIMK1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	155382	VPS37D	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	155368	METTL27	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	114049	BUD23	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7458	EIF4H	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	9275	BCL7B	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	26608	TBL2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	653361	NCF1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	135886	TMEM270	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	51085	MLXIPL	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	9031	BAZ1B	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7415	VCP	OMIM:167320
HP:0002644	Abnormal pelvic girdle bone morphology	6916	TBXAS1	ORPHA:1802
HP:0002644	Abnormal pelvic girdle bone morphology	7040	TGFB1	ORPHA:1328
HP:0002644	Abnormal pelvic girdle bone morphology	4041	LRP5	OMIM:607634
HP:0002644	Abnormal pelvic girdle bone morphology	4041	LRP5	OMIM:144750
HP:0002644	Abnormal pelvic girdle bone morphology	8443	GNPAT	OMIM:222765
HP:0002644	Abnormal pelvic girdle bone morphology	1186	CLCN7	OMIM:166600
HP:0002644	Abnormal pelvic girdle bone morphology	4998	ORC1	OMIM:224690
HP:0002644	Abnormal pelvic girdle bone morphology	100	ADA	OMIM:102700
HP:0002644	Abnormal pelvic girdle bone morphology	55733	HHAT	ORPHA:1422
HP:0002644	Abnormal pelvic girdle bone morphology	56172	ANKH	OMIM:123000
HP:0002644	Abnormal pelvic girdle bone morphology	387733	IFITM5	OMIM:610967
HP:0002644	Abnormal pelvic girdle bone morphology	5566	PRKACA	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	5567	PRKACB	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	2735	GLI1	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	7291	TWIST1	OMIM:101400
HP:0002644	Abnormal pelvic girdle bone morphology	84168	ANTXR1	ORPHA:2067
HP:0002644	Abnormal pelvic girdle bone morphology	79633	FAT4	ORPHA:314679
HP:0002644	Abnormal pelvic girdle bone morphology	8642	DCHS1	ORPHA:314679
HP:0002644	Abnormal pelvic girdle bone morphology	55703	POLR3B	OMIM:614381
HP:0002644	Abnormal pelvic girdle bone morphology	10262	SF3B4	OMIM:154400
HP:0002644	Abnormal pelvic girdle bone morphology	1291	COL6A1	OMIM:254090
HP:0002644	Abnormal pelvic girdle bone morphology	1291	COL6A1	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1292	COL6A2	OMIM:254090
HP:0002644	Abnormal pelvic girdle bone morphology	1292	COL6A2	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1293	COL6A3	OMIM:254090
HP:0002644	Abnormal pelvic girdle bone morphology	1293	COL6A3	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	579	NKX3-2	OMIM:613330
HP:0002644	Abnormal pelvic girdle bone morphology	79796	ALG9	OMIM:608776
HP:0002644	Abnormal pelvic girdle bone morphology	1303	COL12A1	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1303	COL12A1	OMIM:616471
HP:0002644	Abnormal pelvic girdle bone morphology	2317	FLNB	ORPHA:56305
HP:0002644	Abnormal pelvic girdle bone morphology	2317	FLNB	OMIM:150250
HP:0002644	Abnormal pelvic girdle bone morphology	6662	SOX9	ORPHA:140
HP:0002644	Abnormal pelvic girdle bone morphology	6662	SOX9	OMIM:114290
HP:0002644	Abnormal pelvic girdle bone morphology	4703	NEB	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	10324	KLHL41	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	56203	LMOD3	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	1073	CFL2	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	55784	MCTP2	ORPHA:1596
HP:0002644	Abnormal pelvic girdle bone morphology	16	AARS1	OMIM:616339
HP:0002644	Abnormal pelvic girdle bone morphology	51010	EXOSC3	OMIM:614678
HP:0002644	Abnormal pelvic girdle bone morphology	1717	DHCR7	ORPHA:818
HP:0002644	Abnormal pelvic girdle bone morphology	1717	DHCR7	OMIM:270400
HP:0002644	Abnormal pelvic girdle bone morphology	9915	ARNT2	OMIM:615926
HP:0002644	Abnormal pelvic girdle bone morphology	10225	CD96	OMIM:211750
HP:0002644	Abnormal pelvic girdle bone morphology	4626	MYH8	ORPHA:3377
HP:0002644	Abnormal pelvic girdle bone morphology	4626	MYH8	OMIM:158300
HP:0002644	Abnormal pelvic girdle bone morphology	4952	OCRL	ORPHA:534
HP:0002644	Abnormal pelvic girdle bone morphology	4952	OCRL	OMIM:309000
HP:0002644	Abnormal pelvic girdle bone morphology	2067	ERCC1	OMIM:610758
HP:0002644	Abnormal pelvic girdle bone morphology	4038	LRP4	ORPHA:3258
HP:0002644	Abnormal pelvic girdle bone morphology	324	APC	ORPHA:3258
HP:0002644	Abnormal pelvic girdle bone morphology	2187	FANCB	ORPHA:3412
HP:0002644	Abnormal pelvic girdle bone morphology	2187	FANCB	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	23499	MACF1	ORPHA:572013
HP:0002644	Abnormal pelvic girdle bone morphology	387119	CEP85L	ORPHA:572013
HP:0002644	Abnormal pelvic girdle bone morphology	64135	IFIH1	OMIM:182250
HP:0002644	Abnormal pelvic girdle bone morphology	29925	GMPPB	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	79147	FKRP	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	29954	POMT2	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	29954	POMT2	OMIM:613156
HP:0002644	Abnormal pelvic girdle bone morphology	9215	LARGE1	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	10585	POMT1	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	1351	COX8A	OMIM:619059
HP:0002644	Abnormal pelvic girdle bone morphology	2530	FUT8	OMIM:618005
HP:0002644	Abnormal pelvic girdle bone morphology	4052	LTBP1	OMIM:619451
HP:0002644	Abnormal pelvic girdle bone morphology	4052	LTBP1	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	3899	AFF3	OMIM:619297
HP:0002644	Abnormal pelvic girdle bone morphology	165	AEBP1	OMIM:618000
HP:0002644	Abnormal pelvic girdle bone morphology	165	AEBP1	ORPHA:536532
HP:0002644	Abnormal pelvic girdle bone morphology	3572	IL6ST	OMIM:618523
HP:0002644	Abnormal pelvic girdle bone morphology	64131	XYLT1	OMIM:615777
HP:0002644	Abnormal pelvic girdle bone morphology	29920	PYCR2	ORPHA:481152
HP:0002644	Abnormal pelvic girdle bone morphology	672	BRCA1	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	10459	MAD2L2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	7516	XRCC2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	29089	UBE2T	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	675	BRCA2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55120	FANCL	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2177	FANCD2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2175	FANCA	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2176	FANCC	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2178	FANCE	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2188	FANCF	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2189	FANCG	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	5888	RAD51	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	5889	RAD51C	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55159	RFWD3	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	83990	BRIP1	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	57697	FANCM	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	79728	PALB2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	84464	SLX4	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2072	ERCC4	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55215	FANCI	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	6678	SPARC	OMIM:616507
HP:0002644	Abnormal pelvic girdle bone morphology	64093	SMOC1	ORPHA:1106
HP:0002644	Abnormal pelvic girdle bone morphology	64093	SMOC1	OMIM:206920
HP:0002644	Abnormal pelvic girdle bone morphology	25778	DSTYK	ORPHA:101003
HP:0002644	Abnormal pelvic girdle bone morphology	1289	COL5A1	ORPHA:287
HP:0002644	Abnormal pelvic girdle bone morphology	57531	HACE1	ORPHA:464282
HP:0002644	Abnormal pelvic girdle bone morphology	57531	HACE1	OMIM:616756
HP:0002644	Abnormal pelvic girdle bone morphology	2743	GLRB	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	2741	GLRA1	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	2741	GLRA1	OMIM:149400
HP:0002644	Abnormal pelvic girdle bone morphology	10243	GPHN	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	10243	GPHN	OMIM:149400
HP:0002644	Abnormal pelvic girdle bone morphology	84896	ATAD1	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	9152	SLC6A5	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	55697	VAC14	ORPHA:3472
HP:0002644	Abnormal pelvic girdle bone morphology	860	RUNX2	OMIM:119600
HP:0002644	Abnormal pelvic girdle bone morphology	22872	SEC31A	OMIM:618651
HP:0002644	Abnormal pelvic girdle bone morphology	26175	LYSET	OMIM:619345
HP:0002644	Abnormal pelvic girdle bone morphology	9451	EIF2AK3	OMIM:226980
HP:0002644	Abnormal pelvic girdle bone morphology	10682	EBP	ORPHA:35173
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2260	FGFR1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2260	FGFR1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	23007	PLCH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	10735	STAG2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	10735	STAG2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	55644	OSGEP	OMIM:617729
HP:0002644	Abnormal pelvic girdle bone morphology	2697	GJA1	OMIM:164200
HP:0002644	Abnormal pelvic girdle bone morphology	2313	FLI1	ORPHA:2308
HP:0002644	Abnormal pelvic girdle bone morphology	85301	COL27A1	OMIM:615155
HP:0002644	Abnormal pelvic girdle bone morphology	1861	TOR1A	OMIM:618947
HP:0002644	Abnormal pelvic girdle bone morphology	3098	HK1	OMIM:618547
HP:0002644	Abnormal pelvic girdle bone morphology	6608	SMO	OMIM:241800
HP:0002644	Abnormal pelvic girdle bone morphology	4796	TONSL	ORPHA:93357
HP:0002644	Abnormal pelvic girdle bone morphology	145258	GSC	OMIM:602471
HP:0002644	Abnormal pelvic girdle bone morphology	5728	PTEN	ORPHA:744
HP:0002644	Abnormal pelvic girdle bone morphology	207	AKT1	ORPHA:744
HP:0002644	Abnormal pelvic girdle bone morphology	6558	SLC12A2	OMIM:619083
HP:0002644	Abnormal pelvic girdle bone morphology	10269	ZMPSTE24	ORPHA:740
HP:0002644	Abnormal pelvic girdle bone morphology	3251	HPRT1	OMIM:300322
HP:0002644	Abnormal pelvic girdle bone morphology	51360	MBTPS2	OMIM:308205
HP:0002644	Abnormal pelvic girdle bone morphology	113246	C12orf57	OMIM:218340
HP:0002644	Abnormal pelvic girdle bone morphology	3187	HNRNPH1	OMIM:620083
HP:0002644	Abnormal pelvic girdle bone morphology	2006	ELN	ORPHA:90348
HP:0002644	Abnormal pelvic girdle bone morphology	10516	FBLN5	ORPHA:90348
HP:0002644	Abnormal pelvic girdle bone morphology	10516	FBLN5	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	30008	EFEMP2	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	92344	GORAB	ORPHA:2078
HP:0002644	Abnormal pelvic girdle bone morphology	9939	RBM8A	ORPHA:3320
HP:0002644	Abnormal pelvic girdle bone morphology	9939	RBM8A	OMIM:274000
HP:0002644	Abnormal pelvic girdle bone morphology	9469	CHST3	OMIM:245600
HP:0002644	Abnormal pelvic girdle bone morphology	26229	B3GAT3	OMIM:245600
HP:0002644	Abnormal pelvic girdle bone morphology	81603	TRIM8	OMIM:619428
HP:0002644	Abnormal pelvic girdle bone morphology	2121	EVC	OMIM:225500
HP:0002644	Abnormal pelvic girdle bone morphology	132884	EVC2	OMIM:225500
HP:0002644	Abnormal pelvic girdle bone morphology	2335	FN1	ORPHA:93315
HP:0002644	Abnormal pelvic girdle bone morphology	10013	HDAC6	ORPHA:163966
HP:0002644	Abnormal pelvic girdle bone morphology	10013	HDAC6	OMIM:300863
HP:0002644	Abnormal pelvic girdle bone morphology	2146	EZH2	OMIM:277590
HP:0002644	Abnormal pelvic girdle bone morphology	147372	CCBE1	OMIM:235510
HP:0002644	Abnormal pelvic girdle bone morphology	8726	EED	OMIM:617561
HP:0002644	Abnormal pelvic girdle bone morphology	4089	SMAD4	OMIM:139210
HP:0002644	Abnormal pelvic girdle bone morphology	2623	GATA1	OMIM:190685
HP:0002644	Abnormal pelvic girdle bone morphology	54101	RIPK4	OMIM:263650
HP:0002644	Abnormal pelvic girdle bone morphology	388015	RTL1	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	8788	DLK1	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	55384	MEG3	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	23556	PIGN	OMIM:614080
HP:0002644	Abnormal pelvic girdle bone morphology	6197	RPS6KA3	OMIM:303600
HP:0002644	Abnormal pelvic girdle bone morphology	6197	RPS6KA3	ORPHA:192
HP:0002644	Abnormal pelvic girdle bone morphology	9871	SEC24D	OMIM:616294
HP:0002644	Abnormal pelvic girdle bone morphology	1513	CTSK	OMIM:265800
HP:0002644	Abnormal pelvic girdle bone morphology	54187	NANS	OMIM:610442
HP:0002644	Abnormal pelvic girdle bone morphology	5830	PEX5	OMIM:616716
HP:0002644	Abnormal pelvic girdle bone morphology	4921	DDR2	OMIM:271665
HP:0002644	Abnormal pelvic girdle bone morphology	84572	GNPTG	OMIM:252605
HP:0002644	Abnormal pelvic girdle bone morphology	9131	AIFM1	OMIM:300232
HP:0002644	Abnormal pelvic girdle bone morphology	5251	PHEX	ORPHA:89936
HP:0002644	Abnormal pelvic girdle bone morphology	3549	IHH	ORPHA:63446
HP:0002644	Abnormal pelvic girdle bone morphology	3549	IHH	OMIM:607778
HP:0002644	Abnormal pelvic girdle bone morphology	51715	RAB23	OMIM:201000
HP:0002644	Abnormal pelvic girdle bone morphology	2879	GPX4	OMIM:250220
HP:0002644	Abnormal pelvic girdle bone morphology	79848	CSPP1	ORPHA:397715
HP:0002644	Abnormal pelvic girdle bone morphology	9786	KIAA0586	ORPHA:397715
HP:0002644	Abnormal pelvic girdle bone morphology	91147	TMEM67	ORPHA:140976
HP:0002644	Abnormal pelvic girdle bone morphology	3373	HYAL1	ORPHA:67041
HP:0002644	Abnormal pelvic girdle bone morphology	60561	RINT1	OMIM:618641
HP:0002644	Abnormal pelvic girdle bone morphology	112752	IFT43	OMIM:617866
HP:0002644	Abnormal pelvic girdle bone morphology	83879	CDCA7	OMIM:616910
HP:0002644	Abnormal pelvic girdle bone morphology	1302	COL11A2	OMIM:614524
HP:0002644	Abnormal pelvic girdle bone morphology	3636	INPPL1	OMIM:258480
HP:0002644	Abnormal pelvic girdle bone morphology	3636	INPPL1	ORPHA:2746
HP:0002644	Abnormal pelvic girdle bone morphology	5331	PLCB3	OMIM:618961
HP:0002644	Abnormal pelvic girdle bone morphology	51025	PAM16	OMIM:613320
HP:0002644	Abnormal pelvic girdle bone morphology	25871	NEPRO	OMIM:618853
HP:0002644	Abnormal pelvic girdle bone morphology	9382	COG1	OMIM:611209
HP:0002644	Abnormal pelvic girdle bone morphology	4088	SMAD3	ORPHA:284984
HP:0002644	Abnormal pelvic girdle bone morphology	4088	SMAD3	OMIM:613795
HP:0002644	Abnormal pelvic girdle bone morphology	2200	FBN1	OMIM:154700
HP:0002644	Abnormal pelvic girdle bone morphology	5176	SERPINF1	OMIM:613982
HP:0002644	Abnormal pelvic girdle bone morphology	10491	CRTAP	OMIM:610682
HP:0002644	Abnormal pelvic girdle bone morphology	7048	TGFBR2	OMIM:610168
HP:0002644	Abnormal pelvic girdle bone morphology	7042	TGFB2	OMIM:614816
HP:0002644	Abnormal pelvic girdle bone morphology	83452	RAB33B	OMIM:615222
HP:0002644	Abnormal pelvic girdle bone morphology	51098	IFT52	OMIM:617102
HP:0002644	Abnormal pelvic girdle bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0002644	Abnormal pelvic girdle bone morphology	649	BMP1	OMIM:614856
HP:0002644	Abnormal pelvic girdle bone morphology	341640	FREM2	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	80144	FRAS1	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	80144	FRAS1	OMIM:219000
HP:0002644	Abnormal pelvic girdle bone morphology	23426	GRIP1	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	6335	SCN9A	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	65125	WNK1	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	54463	RETREG1	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	547	KIF1A	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	7421	VDR	ORPHA:93160
HP:0002644	Abnormal pelvic girdle bone morphology	157680	VPS13B	ORPHA:193
HP:0002644	Abnormal pelvic girdle bone morphology	7140	TNNT3	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	7140	TNNT3	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	7136	TNNI2	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	7136	TNNI2	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	4604	MYBPC1	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	2733	GLE1	ORPHA:1486
HP:0002644	Abnormal pelvic girdle bone morphology	23314	SATB2	ORPHA:251028
HP:0002644	Abnormal pelvic girdle bone morphology	8200	GDF5	ORPHA:2639
HP:0002644	Abnormal pelvic girdle bone morphology	658	BMPR1B	ORPHA:2639
HP:0002644	Abnormal pelvic girdle bone morphology	64359	NXN	ORPHA:1507
HP:0002644	Abnormal pelvic girdle bone morphology	4920	ROR2	ORPHA:1507
HP:0002644	Abnormal pelvic girdle bone morphology	84295	PHF6	ORPHA:127
HP:0002644	Abnormal pelvic girdle bone morphology	5184	PEPD	ORPHA:742
HP:0002644	Abnormal pelvic girdle bone morphology	9897	WASHC5	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	28952	CCDC22	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	4914	NTRK1	ORPHA:642
HP:0002644	Abnormal pelvic girdle bone morphology	6473	SHOX	ORPHA:240
HP:0002644	Abnormal pelvic girdle bone morphology	170302	ARX	ORPHA:2508
HP:0002644	Abnormal pelvic girdle bone morphology	9653	HS2ST1	OMIM:619194
HP:0002644	Abnormal pelvic girdle bone morphology	274	BIN1	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	10290	SPEG	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	10290	SPEG	OMIM:615959
HP:0002644	Abnormal pelvic girdle bone morphology	7273	TTN	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	59341	TRPV4	OMIM:600175
HP:0002644	Abnormal pelvic girdle bone morphology	55906	ZC4H2	OMIM:301041
HP:0002644	Abnormal pelvic girdle bone morphology	4593	MUSK	OMIM:208150
HP:0002644	Abnormal pelvic girdle bone morphology	29895	MYL11	OMIM:619110
HP:0002644	Abnormal pelvic girdle bone morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002644	Abnormal pelvic girdle bone morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002644	Abnormal pelvic girdle bone morphology	100151683	RNU4ATAC	OMIM:616651
HP:0002644	Abnormal pelvic girdle bone morphology	9894	TELO2	ORPHA:488642
HP:0002644	Abnormal pelvic girdle bone morphology	285175	UNC80	OMIM:616801
HP:0002644	Abnormal pelvic girdle bone morphology	285175	UNC80	ORPHA:371364
HP:0002644	Abnormal pelvic girdle bone morphology	259232	NALCN	ORPHA:371364
HP:0002644	Abnormal pelvic girdle bone morphology	259232	NALCN	OMIM:616266
HP:0002644	Abnormal pelvic girdle bone morphology	84992	PIGY	OMIM:616809
HP:0002644	Abnormal pelvic girdle bone morphology	64324	NSD1	ORPHA:821
HP:0002644	Abnormal pelvic girdle bone morphology	29072	SETD2	ORPHA:821
HP:0002644	Abnormal pelvic girdle bone morphology	10297	APC2	ORPHA:821
HP:0002644	Abnormal pelvic girdle bone morphology	11160	ERLIN2	ORPHA:209951
HP:0002644	Abnormal pelvic girdle bone morphology	2617	GARS1	OMIM:619042
HP:0002644	Abnormal pelvic girdle bone morphology	26137	ZBTB20	OMIM:259050
HP:0002644	Abnormal pelvic girdle bone morphology	26137	ZBTB20	ORPHA:3042
HP:0002644	Abnormal pelvic girdle bone morphology	6536	SLC6A9	OMIM:617301
HP:0002644	Abnormal pelvic girdle bone morphology	163175	LGI4	OMIM:617468
HP:0002644	Abnormal pelvic girdle bone morphology	2201	FBN2	OMIM:121050
HP:0002644	Abnormal pelvic girdle bone morphology	60681	FKBP10	OMIM:259450
HP:0002644	Abnormal pelvic girdle bone morphology	4773	NFATC2	OMIM:620232
HP:0002644	Abnormal pelvic girdle bone morphology	87178	PNPT1	ORPHA:319514
HP:0002644	Abnormal pelvic girdle bone morphology	79158	GNPTAB	ORPHA:576
HP:0002644	Abnormal pelvic girdle bone morphology	4621	MYH3	OMIM:178110
HP:0002644	Abnormal pelvic girdle bone morphology	4621	MYH3	OMIM:193700
HP:0002644	Abnormal pelvic girdle bone morphology	84068	SLC10A7	OMIM:618363
HP:0002644	Abnormal pelvic girdle bone morphology	2157	F8	ORPHA:169805
HP:0002644	Abnormal pelvic girdle bone morphology	7317	UBA1	ORPHA:1145
HP:0002644	Abnormal pelvic girdle bone morphology	7138	TNNT1	ORPHA:98902
HP:0002644	Abnormal pelvic girdle bone morphology	7138	TNNT1	OMIM:605355
HP:0002644	Abnormal pelvic girdle bone morphology	4313	MMP2	OMIM:259600
HP:0002644	Abnormal pelvic girdle bone morphology	5297	PI4KA	OMIM:619621
HP:0002644	Abnormal pelvic girdle bone morphology	54681	P4HTM	OMIM:618493
HP:0002644	Abnormal pelvic girdle bone morphology	5277	PIGA	OMIM:300868
HP:0002644	Abnormal pelvic girdle bone morphology	6023	RMRP	OMIM:607095
HP:0002644	Abnormal pelvic girdle bone morphology	2783	GNB2	OMIM:619503
HP:0002644	Abnormal pelvic girdle bone morphology	4632	MYL1	OMIM:618414
HP:0002644	Abnormal pelvic girdle bone morphology	4000	LMNA	OMIM:613205
HP:0002644	Abnormal pelvic girdle bone morphology	54808	DYM	OMIM:607326
HP:0002644	Abnormal pelvic girdle bone morphology	54808	DYM	ORPHA:239
HP:0002644	Abnormal pelvic girdle bone morphology	3911	LAMA5	OMIM:620076
HP:0002644	Abnormal pelvic girdle bone morphology	411	ARSB	OMIM:253200
HP:0002644	Abnormal pelvic girdle bone morphology	5745	PTH1R	ORPHA:79106
HP:0002644	Abnormal pelvic girdle bone morphology	5745	PTH1R	OMIM:600002
HP:0002644	Abnormal pelvic girdle bone morphology	633	BGN	OMIM:300106
HP:0002644	Abnormal pelvic girdle bone morphology	89970	RSPRY1	ORPHA:457395
HP:0002644	Abnormal pelvic girdle bone morphology	89970	RSPRY1	OMIM:616723
HP:0002644	Abnormal pelvic girdle bone morphology	5447	POR	OMIM:207410
HP:0002644	Abnormal pelvic girdle bone morphology	5447	POR	ORPHA:95699
HP:0002644	Abnormal pelvic girdle bone morphology	2263	FGFR2	OMIM:207410
HP:0002644	Abnormal pelvic girdle bone morphology	5116	PCNT	ORPHA:2637
HP:0002644	Abnormal pelvic girdle bone morphology	5116	PCNT	OMIM:210720
HP:0002644	Abnormal pelvic girdle bone morphology	168667	BMPER	ORPHA:66637
HP:0002644	Abnormal pelvic girdle bone morphology	168667	BMPER	OMIM:608022
HP:0002644	Abnormal pelvic girdle bone morphology	3425	IDUA	ORPHA:93473
HP:0002644	Abnormal pelvic girdle bone morphology	2131	EXT1	OMIM:133700
HP:0002644	Abnormal pelvic girdle bone morphology	538	ATP7A	OMIM:304150
HP:0002644	Abnormal pelvic girdle bone morphology	2132	EXT2	OMIM:133701
HP:0002644	Abnormal pelvic girdle bone morphology	2720	GLB1	OMIM:253010
HP:0002644	Abnormal pelvic girdle bone morphology	2588	GALNS	OMIM:253000
HP:0002644	Abnormal pelvic girdle bone morphology	2074	ERCC6	OMIM:133540
HP:0002644	Abnormal pelvic girdle bone morphology	9321	TRIP11	ORPHA:166272
HP:0002644	Abnormal pelvic girdle bone morphology	1161	ERCC8	OMIM:216400
HP:0002644	Abnormal pelvic girdle bone morphology	145173	B3GLCT	OMIM:261540
HP:0002644	Abnormal pelvic girdle bone morphology	7227	TRPS1	OMIM:190350
HP:0002644	Abnormal pelvic girdle bone morphology	7227	TRPS1	OMIM:190351
HP:0002644	Abnormal pelvic girdle bone morphology	9496	TBX4	ORPHA:261279
HP:0002644	Abnormal pelvic girdle bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0002644	Abnormal pelvic girdle bone morphology	1297	COL9A1	OMIM:614135
HP:0002644	Abnormal pelvic girdle bone morphology	1297	COL9A1	ORPHA:166002
HP:0002644	Abnormal pelvic girdle bone morphology	567	B2M	ORPHA:314652
HP:0002644	Abnormal pelvic girdle bone morphology	1299	COL9A3	ORPHA:166002
HP:0002644	Abnormal pelvic girdle bone morphology	65992	DDRGK1	OMIM:602557
HP:0002644	Abnormal pelvic girdle bone morphology	755	CFAP410	OMIM:602271
HP:0002644	Abnormal pelvic girdle bone morphology	1301	COL11A1	OMIM:228520
HP:0002644	Abnormal pelvic girdle bone morphology	5130	PCYT1A	ORPHA:85167
HP:0002644	Abnormal pelvic girdle bone morphology	5130	PCYT1A	OMIM:608940
HP:0002644	Abnormal pelvic girdle bone morphology	51119	SBDS	OMIM:260400
HP:0002644	Abnormal pelvic girdle bone morphology	6729	SRP54	OMIM:260400
HP:0002644	Abnormal pelvic girdle bone morphology	27152	INTU	OMIM:617925
HP:0002644	Abnormal pelvic girdle bone morphology	1280	COL2A1	ORPHA:93316
HP:0002644	Abnormal pelvic girdle bone morphology	3417	IDH1	ORPHA:99646
HP:0002644	Abnormal pelvic girdle bone morphology	57477	SHROOM4	ORPHA:85288
HP:0002644	Abnormal pelvic girdle bone morphology	2192	FBLN1	ORPHA:404451
HP:0002644	Abnormal pelvic girdle bone morphology	8218	CLTCL1	ORPHA:453510
HP:0002644	Abnormal pelvic girdle bone morphology	10804	GJB6	ORPHA:477
HP:0002644	Abnormal pelvic girdle bone morphology	2706	GJB2	ORPHA:477
HP:0002644	Abnormal pelvic girdle bone morphology	23387	SIK3	OMIM:618162
HP:0002644	Abnormal pelvic girdle bone morphology	865	CBFB	OMIM:620099
HP:0002644	Abnormal pelvic girdle bone morphology	3459	IFNGR1	OMIM:209950
HP:0002644	Abnormal pelvic girdle bone morphology	10940	POP1	OMIM:617396
HP:0002644	Abnormal pelvic girdle bone morphology	26146	TRAF3IP1	OMIM:616629
HP:0002644	Abnormal pelvic girdle bone morphology	1311	COMP	ORPHA:750
HP:0002644	Abnormal pelvic girdle bone morphology	2137	EXTL3	ORPHA:508533
HP:0002644	Abnormal pelvic girdle bone morphology	1146	CHRNG	OMIM:265000
HP:0002644	Abnormal pelvic girdle bone morphology	10717	AP4B1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	10717	AP4B1	OMIM:614066
HP:0002644	Abnormal pelvic girdle bone morphology	9179	AP4M1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	11154	AP4S1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	23431	AP4E1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	126792	B3GALT6	ORPHA:536467
HP:0002644	Abnormal pelvic girdle bone morphology	29928	TIMM22	OMIM:618851
HP:0002644	Abnormal pelvic girdle bone morphology	6210	RPS15A	OMIM:618313
HP:0002644	Abnormal pelvic girdle bone morphology	9775	EIF4A3	OMIM:268305
HP:0002644	Abnormal pelvic girdle bone morphology	25885	POLR1A	OMIM:616462
HP:0002644	Abnormal pelvic girdle bone morphology	1836	SLC26A2	ORPHA:93307
HP:0002644	Abnormal pelvic girdle bone morphology	2990	GUSB	OMIM:253220
HP:0002644	Abnormal pelvic girdle bone morphology	23443	SLC35A3	OMIM:615553
HP:0002644	Abnormal pelvic girdle bone morphology	65082	VPS33A	OMIM:617303
HP:0002644	Abnormal pelvic girdle bone morphology	84700	MYO18B	OMIM:616549
HP:0002644	Abnormal pelvic girdle bone morphology	55681	SCYL2	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	84570	COL25A1	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	57222	ERGIC1	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	4897	NRCAM	OMIM:619833
HP:0002644	Abnormal pelvic girdle bone morphology	8546	AP3B1	OMIM:608233
HP:0002644	Abnormal pelvic girdle bone morphology	10484	SEC23A	OMIM:607812
HP:0002644	Abnormal pelvic girdle bone morphology	10484	SEC23A	ORPHA:50814
HP:0002644	Abnormal pelvic girdle bone morphology	139285	AMER1	ORPHA:2780
HP:0002644	Abnormal pelvic girdle bone morphology	4125	MAN2B1	ORPHA:309282
HP:0002644	Abnormal pelvic girdle bone morphology	54872	PIGG	ORPHA:280
HP:0002644	Abnormal pelvic girdle bone morphology	7469	NELFA	ORPHA:280
HP:0002644	Abnormal pelvic girdle bone morphology	2261	FGFR3	OMIM:187600
HP:0002644	Abnormal pelvic girdle bone morphology	153241	CEP120	OMIM:616300
HP:0002644	Abnormal pelvic girdle bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0002644	Abnormal pelvic girdle bone morphology	25886	POC1A	OMIM:614813
HP:0002644	Abnormal pelvic girdle bone morphology	7473	WNT3	ORPHA:3301
HP:0002644	Abnormal pelvic girdle bone morphology	340419	RSPO2	ORPHA:3301
HP:0002644	Abnormal pelvic girdle bone morphology	26040	SETBP1	OMIM:269150
HP:0002644	Abnormal pelvic girdle bone morphology	23592	LEMD3	ORPHA:166119
HP:0002644	Abnormal pelvic girdle bone morphology	55112	DYNC2I1	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	57560	IFT80	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	57539	WDR35	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	79659	DYNC2H1	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	89891	DYNC2I2	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	3930	LBR	ORPHA:1426
HP:0002644	Abnormal pelvic girdle bone morphology	4010	LMX1B	ORPHA:2614
HP:0002644	Abnormal pelvic girdle bone morphology	4010	LMX1B	OMIM:161200
HP:0002644	Abnormal pelvic girdle bone morphology	255758	DYNLT2B	OMIM:617405
HP:0002644	Abnormal pelvic girdle bone morphology	81839	VANGL1	ORPHA:3027
HP:0002644	Abnormal pelvic girdle bone morphology	80199	FUZ	ORPHA:3027
HP:0002644	Abnormal pelvic girdle bone morphology	3106	HLA-B	OMIM:106300
HP:0002644	Abnormal pelvic girdle bone morphology	7355	SLC35A2	ORPHA:356961
HP:0002644	Abnormal pelvic girdle bone morphology	55628	ZNF407	OMIM:619557
HP:0002644	Abnormal pelvic girdle bone morphology	51608	GET4	OMIM:620200
HP:0002644	Abnormal pelvic girdle bone morphology	28962	OSTM1	OMIM:259720
HP:0002644	Abnormal pelvic girdle bone morphology	27125	AFF4	ORPHA:444077
HP:0002644	Abnormal pelvic girdle bone morphology	84823	LMNB2	OMIM:619180
HP:0002644	Abnormal pelvic girdle bone morphology	51112	TRAPPC12	ORPHA:500144
HP:0002644	Abnormal pelvic girdle bone morphology	29998	BICRA	OMIM:619325
HP:0002644	Abnormal pelvic girdle bone morphology	23169	SLC35D1	OMIM:269250
HP:0002644	Abnormal pelvic girdle bone morphology	9842	PLEKHM1	OMIM:611497
HP:0002644	Abnormal pelvic girdle bone morphology	26123	TCTN3	OMIM:614815
HP:0002644	Abnormal pelvic girdle bone morphology	9851	KIAA0753	OMIM:619479
HP:0002644	Abnormal pelvic girdle bone morphology	10584	COLEC10	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	5648	MASP1	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	78989	COLEC11	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	6872	TAF1	OMIM:300966
HP:0002644	Abnormal pelvic girdle bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0002644	Abnormal pelvic girdle bone morphology	117581	TWIST2	ORPHA:1807
HP:0002644	Abnormal pelvic girdle bone morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002644	Abnormal pelvic girdle bone morphology	1758	DMP1	ORPHA:289176
HP:0002644	Abnormal pelvic girdle bone morphology	8720	MBTPS1	OMIM:618392
HP:0002644	Abnormal pelvic girdle bone morphology	10651	MTX2	OMIM:619127
HP:0002644	Abnormal pelvic girdle bone morphology	10216	PRG4	ORPHA:2848
HP:0002644	Abnormal pelvic girdle bone morphology	124583	CANT1	OMIM:251450
HP:0002644	Abnormal pelvic girdle bone morphology	124583	CANT1	OMIM:617719
HP:0002644	Abnormal pelvic girdle bone morphology	4318	MMP9	OMIM:613073
HP:0002644	Abnormal pelvic girdle bone morphology	5286	PIK3C2A	OMIM:618440
HP:0002644	Abnormal pelvic girdle bone morphology	1108	CHD4	OMIM:617159
HP:0002644	Abnormal pelvic girdle bone morphology	91252	SLC39A13	ORPHA:157965
HP:0002644	Abnormal pelvic girdle bone morphology	91252	SLC39A13	OMIM:612350
HP:0002644	Abnormal pelvic girdle bone morphology	9742	IFT140	OMIM:266920
HP:0002644	Abnormal pelvic girdle bone morphology	80169	CTC1	OMIM:612199
HP:0002644	Abnormal pelvic girdle bone morphology	79639	TMEM53	OMIM:619727
HP:0002644	Abnormal pelvic girdle bone morphology	3977	LIFR	OMIM:601559
HP:0002644	Abnormal pelvic girdle bone morphology	54	ACP5	OMIM:607944
HP:0002644	Abnormal pelvic girdle bone morphology	1235	CCR6	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	1235	CCR6	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	1490	CCN2	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	1490	CCN2	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	3663	IRF5	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	3663	IRF5	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	857	CAV1	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	857	CAV1	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	3123	HLA-DRB1	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	3123	HLA-DRB1	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	79932	KIAA0319L	ORPHA:220402
HP:0002645	Wormian bones	9131	AIFM1	OMIM:300232
HP:0002645	Wormian bones	10269	ZMPSTE24	OMIM:608612
HP:0002645	Wormian bones	79879	CCDC134	OMIM:619795
HP:0002645	Wormian bones	5034	P4HB	OMIM:112240
HP:0002645	Wormian bones	5034	P4HB	ORPHA:2050
HP:0002645	Wormian bones	9871	SEC24D	ORPHA:2050
HP:0002645	Wormian bones	9871	SEC24D	OMIM:616294
HP:0002645	Wormian bones	6608	SMO	OMIM:601707
HP:0002645	Wormian bones	23126	POGZ	OMIM:616364
HP:0002645	Wormian bones	5593	PRKG2	OMIM:619638
HP:0002645	Wormian bones	5832	ALDH18A1	OMIM:616603
HP:0002645	Wormian bones	5832	ALDH18A1	OMIM:219150
HP:0002645	Wormian bones	5832	ALDH18A1	ORPHA:90348
HP:0002645	Wormian bones	538	ATP7A	OMIM:309400
HP:0002645	Wormian bones	538	ATP7A	ORPHA:565
HP:0002645	Wormian bones	5352	PLOD2	ORPHA:2771
HP:0002645	Wormian bones	5352	PLOD2	OMIM:609220
HP:0002645	Wormian bones	60681	FKBP10	ORPHA:2771
HP:0002645	Wormian bones	60681	FKBP10	OMIM:610968
HP:0002645	Wormian bones	1277	COL1A1	OMIM:259420
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166200
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166210
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166220
HP:0002645	Wormian bones	1278	COL1A2	OMIM:259420
HP:0002645	Wormian bones	1278	COL1A2	OMIM:617821
HP:0002645	Wormian bones	1278	COL1A2	OMIM:166210
HP:0002645	Wormian bones	1278	COL1A2	OMIM:166220
HP:0002645	Wormian bones	3248	HPGD	OMIM:259100
HP:0002645	Wormian bones	27125	AFF4	ORPHA:444077
HP:0002645	Wormian bones	221496	LEMD2	OMIM:619322
HP:0002645	Wormian bones	285590	SH3PXD2B	OMIM:249420
HP:0002645	Wormian bones	4854	NOTCH3	OMIM:130720
HP:0002645	Wormian bones	4854	NOTCH3	ORPHA:2789
HP:0002645	Wormian bones	5159	PDGFRB	OMIM:601812
HP:0002645	Wormian bones	202018	TAPT1	OMIM:616897
HP:0002645	Wormian bones	4000	LMNA	OMIM:248370
HP:0002645	Wormian bones	4000	LMNA	ORPHA:90153
HP:0002645	Wormian bones	388015	RTL1	ORPHA:96334
HP:0002645	Wormian bones	8788	DLK1	ORPHA:96334
HP:0002645	Wormian bones	55384	MEG3	ORPHA:96334
HP:0002645	Wormian bones	2316	FLNA	OMIM:304120
HP:0002645	Wormian bones	10651	MTX2	ORPHA:90153
HP:0002645	Wormian bones	4488	MSX2	OMIM:168500
HP:0002645	Wormian bones	4488	MSX2	OMIM:604757
HP:0002645	Wormian bones	64175	P3H1	OMIM:610915
HP:0002645	Wormian bones	6335	SCN9A	ORPHA:970
HP:0002645	Wormian bones	65125	WNK1	ORPHA:970
HP:0002645	Wormian bones	54463	RETREG1	ORPHA:970
HP:0002645	Wormian bones	547	KIF1A	ORPHA:970
HP:0002645	Wormian bones	4784	NFIX	OMIM:602535
HP:0002645	Wormian bones	1513	CTSK	OMIM:265800
HP:0002645	Wormian bones	1513	CTSK	ORPHA:763
HP:0002645	Wormian bones	11014	KDELR2	OMIM:619131
HP:0002645	Wormian bones	55603	TENT5A	OMIM:617952
HP:0002645	Wormian bones	23545	ATP6V0A2	ORPHA:2834
HP:0002645	Wormian bones	23545	ATP6V0A2	OMIM:278250
HP:0002645	Wormian bones	10491	CRTAP	OMIM:610682
HP:0002645	Wormian bones	4853	NOTCH2	OMIM:102500
HP:0002645	Wormian bones	4853	NOTCH2	ORPHA:955
HP:0002645	Wormian bones	64919	BCL11B	OMIM:617237
HP:0002645	Wormian bones	2006	ELN	ORPHA:90348
HP:0002645	Wormian bones	10516	FBLN5	ORPHA:90348
HP:0002645	Wormian bones	1108	CHD4	OMIM:617159
HP:0002645	Wormian bones	5831	PYCR1	OMIM:612940
HP:0002645	Wormian bones	23184	MESD	OMIM:618644
HP:0002645	Wormian bones	90993	CREB3L1	OMIM:616229
HP:0002645	Wormian bones	5479	PPIB	OMIM:259440
HP:0002645	Wormian bones	92344	GORAB	OMIM:231070
HP:0002645	Wormian bones	387733	IFITM5	OMIM:610967
HP:0002645	Wormian bones	3339	HSPG2	ORPHA:800
HP:0002645	Wormian bones	860	RUNX2	OMIM:119600
HP:0002645	Wormian bones	860	RUNX2	ORPHA:1452
HP:0002645	Wormian bones	7067	THRA	OMIM:614450
HP:0002645	Wormian bones	4041	LRP5	ORPHA:2788
HP:0002645	Wormian bones	51025	PAM16	OMIM:613320
HP:0002645	Wormian bones	649	BMP1	OMIM:614856
HP:0002645	Wormian bones	196528	ARID2	OMIM:617808
HP:0002645	Wormian bones	26040	SETBP1	OMIM:269150
HP:0002645	Wormian bones	26040	SETBP1	ORPHA:798
HP:0002645	Wormian bones	121340	SP7	OMIM:613849
HP:0004492	Widely patent fontanelles and sutures	183	AGT	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	5972	REN	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	185	AGTR1	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	1636	ACE	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	249	ALPL	OMIM:241500
HP:0004492	Widely patent fontanelles and sutures	1594	CYP27B1	OMIM:264700
HP:0004492	Widely patent fontanelles and sutures	142680	SLC34A3	OMIM:241530
HP:0004492	Widely patent fontanelles and sutures	7421	VDR	OMIM:277440
HP:0004492	Widely patent fontanelles and sutures	9968	MED12	ORPHA:93932
HP:0004492	Widely patent fontanelles and sutures	4000	LMNA	ORPHA:1662
HP:0004492	Widely patent fontanelles and sutures	10269	ZMPSTE24	ORPHA:1662
HP:0004492	Widely patent fontanelles and sutures	4488	MSX2	OMIM:168550
HP:0004492	Widely patent fontanelles and sutures	120227	CYP2R1	OMIM:600081
HP:0004492	Widely patent fontanelles and sutures	26040	SETBP1	OMIM:269150
HP:0004492	Widely patent fontanelles and sutures	11128	POLR3A	OMIM:264090
HP:0004492	Widely patent fontanelles and sutures	11128	POLR3A	ORPHA:3455
HP:0004492	Widely patent fontanelles and sutures	5189	PEX1	OMIM:214100
HP:0004492	Widely patent fontanelles and sutures	8241	RBM10	ORPHA:2886
HP:0002683	Abnormal calvaria morphology	9896	FIG4	OMIM:216340
HP:0002683	Abnormal calvaria morphology	5727	PTCH1	OMIM:610828
HP:0002683	Abnormal calvaria morphology	5727	PTCH1	OMIM:109400
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	ORPHA:15
HP:0002683	Abnormal calvaria morphology	3845	KRAS	OMIM:600268
HP:0002683	Abnormal calvaria morphology	860	RUNX2	OMIM:119600
HP:0002683	Abnormal calvaria morphology	5781	PTPN11	OMIM:151100
HP:0002683	Abnormal calvaria morphology	9526	MPDU1	OMIM:609180
HP:0002683	Abnormal calvaria morphology	9526	MPDU1	ORPHA:79323
HP:0002683	Abnormal calvaria morphology	11128	POLR3A	OMIM:264090
HP:0002683	Abnormal calvaria morphology	60	ACTB	OMIM:243310
HP:0002683	Abnormal calvaria morphology	60	ACTB	ORPHA:2995
HP:0002683	Abnormal calvaria morphology	2737	GLI3	ORPHA:672
HP:0002683	Abnormal calvaria morphology	2737	GLI3	OMIM:175700
HP:0002683	Abnormal calvaria morphology	23394	ADNP	ORPHA:404448
HP:0002683	Abnormal calvaria morphology	5977	DPF2	OMIM:618027
HP:0002683	Abnormal calvaria morphology	71	ACTG1	OMIM:614583
HP:0002683	Abnormal calvaria morphology	71	ACTG1	ORPHA:2995
HP:0002683	Abnormal calvaria morphology	3590	IL11RA	OMIM:614188
HP:0002683	Abnormal calvaria morphology	5530	PPP3CA	OMIM:618265
HP:0002683	Abnormal calvaria morphology	26005	C2CD3	ORPHA:434179
HP:0002683	Abnormal calvaria morphology	26005	C2CD3	OMIM:615948
HP:0002683	Abnormal calvaria morphology	6659	SOX4	OMIM:618506
HP:0002683	Abnormal calvaria morphology	8818	DPM2	ORPHA:329178
HP:0002683	Abnormal calvaria morphology	114803	MYSM1	ORPHA:508542
HP:0002683	Abnormal calvaria morphology	8050	PDHX	OMIM:245349
HP:0002683	Abnormal calvaria morphology	80816	ASXL3	OMIM:615485
HP:0002683	Abnormal calvaria morphology	6536	SLC6A9	OMIM:617301
HP:0002683	Abnormal calvaria morphology	10225	CD96	OMIM:211750
HP:0002683	Abnormal calvaria morphology	10225	CD96	ORPHA:1308
HP:0002683	Abnormal calvaria morphology	79158	GNPTAB	OMIM:252500
HP:0002683	Abnormal calvaria morphology	4488	MSX2	OMIM:604757
HP:0002683	Abnormal calvaria morphology	4001	LMNB1	OMIM:619179
HP:0002683	Abnormal calvaria morphology	158326	FREM1	OMIM:614485
HP:0002683	Abnormal calvaria morphology	158326	FREM1	ORPHA:3366
HP:0002683	Abnormal calvaria morphology	5925	RB1	ORPHA:1587
HP:0002683	Abnormal calvaria morphology	23229	ARHGEF9	ORPHA:163985
HP:0002683	Abnormal calvaria morphology	23229	ARHGEF9	OMIM:300607
HP:0002683	Abnormal calvaria morphology	23511	NUP188	OMIM:618804
HP:0002683	Abnormal calvaria morphology	7874	USP7	OMIM:616863
HP:0002683	Abnormal calvaria morphology	1108	CHD4	OMIM:617159
HP:0002683	Abnormal calvaria morphology	1801	DPH1	OMIM:616901
HP:0002683	Abnormal calvaria morphology	1801	DPH1	ORPHA:459061
HP:0002683	Abnormal calvaria morphology	201163	FLCN	OMIM:610883
HP:0002683	Abnormal calvaria morphology	8813	DPM1	ORPHA:79322
HP:0002683	Abnormal calvaria morphology	5351	PLOD1	ORPHA:1900
HP:0002683	Abnormal calvaria morphology	7546	ZIC2	OMIM:609637
HP:0002683	Abnormal calvaria morphology	171023	ASXL1	ORPHA:97297
HP:0002683	Abnormal calvaria morphology	171023	ASXL1	OMIM:605039
HP:0002683	Abnormal calvaria morphology	84823	LMNB2	OMIM:619180
HP:0002683	Abnormal calvaria morphology	404672	GTF2H5	OMIM:616395
HP:0002683	Abnormal calvaria morphology	9742	IFT140	OMIM:266920
HP:0002683	Abnormal calvaria morphology	9758	FRMPD4	OMIM:300983
HP:0002683	Abnormal calvaria morphology	1954	MEGF8	OMIM:614976
HP:0002683	Abnormal calvaria morphology	2719	GPC3	OMIM:312870
HP:0002683	Abnormal calvaria morphology	2239	GPC4	OMIM:312870
HP:0002683	Abnormal calvaria morphology	9343	EFTUD2	OMIM:610536
HP:0002683	Abnormal calvaria morphology	9343	EFTUD2	ORPHA:79113
HP:0002683	Abnormal calvaria morphology	2313	FLI1	ORPHA:2308
HP:0002683	Abnormal calvaria morphology	10075	HUWE1	OMIM:309590
HP:0002683	Abnormal calvaria morphology	9401	RECQL4	OMIM:218600
HP:0002683	Abnormal calvaria morphology	9401	RECQL4	ORPHA:1225
HP:0002683	Abnormal calvaria morphology	6497	SKI	OMIM:182212
HP:0002683	Abnormal calvaria morphology	2263	FGFR2	ORPHA:87
HP:0002683	Abnormal calvaria morphology	2263	FGFR2	ORPHA:93260
HP:0002683	Abnormal calvaria morphology	2263	FGFR2	OMIM:101600
HP:0002683	Abnormal calvaria morphology	2263	FGFR2	OMIM:101200
HP:0002683	Abnormal calvaria morphology	6857	SYT1	ORPHA:522077
HP:0002683	Abnormal calvaria morphology	2260	FGFR1	OMIM:101600
HP:0002683	Abnormal calvaria morphology	2273	FHL1	OMIM:300280
HP:0002683	Abnormal calvaria morphology	5189	PEX1	OMIM:214100
HP:0002683	Abnormal calvaria morphology	121340	SP7	OMIM:613849
HP:0002683	Abnormal calvaria morphology	56975	FAM20C	OMIM:259775
HP:0002683	Abnormal calvaria morphology	5144	PDE4D	ORPHA:950
HP:0002683	Abnormal calvaria morphology	5144	PDE4D	ORPHA:439822
HP:0002683	Abnormal calvaria morphology	8243	SMC1A	OMIM:300590
HP:0002683	Abnormal calvaria morphology	8243	SMC1A	ORPHA:199
HP:0002683	Abnormal calvaria morphology	2294	FOXF1	OMIM:265380
HP:0002683	Abnormal calvaria morphology	2218	FKTN	ORPHA:272
HP:0002683	Abnormal calvaria morphology	8367	H4C5	OMIM:619950
HP:0002683	Abnormal calvaria morphology	104	ADARB1	OMIM:618862
HP:0002683	Abnormal calvaria morphology	4750	NEK1	OMIM:263520
HP:0002683	Abnormal calvaria morphology	55503	TRPV6	OMIM:618188
HP:0002683	Abnormal calvaria morphology	5885	RAD21	OMIM:614701
HP:0002683	Abnormal calvaria morphology	5885	RAD21	ORPHA:199
HP:0002683	Abnormal calvaria morphology	145173	B3GLCT	ORPHA:709
HP:0002683	Abnormal calvaria morphology	7518	XRCC4	ORPHA:99812
HP:0002683	Abnormal calvaria morphology	3981	LIG4	ORPHA:99812
HP:0002683	Abnormal calvaria morphology	3981	LIG4	OMIM:606593
HP:0002683	Abnormal calvaria morphology	55777	MBD5	ORPHA:228402
HP:0002683	Abnormal calvaria morphology	55777	MBD5	OMIM:156200
HP:0002683	Abnormal calvaria morphology	23126	POGZ	ORPHA:468678
HP:0002683	Abnormal calvaria morphology	23126	POGZ	OMIM:616364
HP:0002683	Abnormal calvaria morphology	10084	PQBP1	ORPHA:93950
HP:0002683	Abnormal calvaria morphology	10084	PQBP1	OMIM:309500
HP:0002683	Abnormal calvaria morphology	55209	SETD5	ORPHA:404440
HP:0002683	Abnormal calvaria morphology	55209	SETD5	OMIM:615761
HP:0002683	Abnormal calvaria morphology	3021	H3-3B	OMIM:619721
HP:0002683	Abnormal calvaria morphology	4010	LMX1B	ORPHA:495818
HP:0002683	Abnormal calvaria morphology	6812	STXBP1	ORPHA:495818
HP:0002683	Abnormal calvaria morphology	2201	FBN2	OMIM:121050
HP:0002683	Abnormal calvaria morphology	2314	FLII	ORPHA:819
HP:0002683	Abnormal calvaria morphology	23096	IQSEC2	ORPHA:819
HP:0002683	Abnormal calvaria morphology	23096	IQSEC2	OMIM:309530
HP:0002683	Abnormal calvaria morphology	10743	RAI1	ORPHA:819
HP:0002683	Abnormal calvaria morphology	10743	RAI1	OMIM:182290
HP:0002683	Abnormal calvaria morphology	10522	DEAF1	ORPHA:819
HP:0002683	Abnormal calvaria morphology	10522	DEAF1	OMIM:615828
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	OMIM:212720
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	ORPHA:1387
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	OMIM:614225
HP:0002683	Abnormal calvaria morphology	6023	RMRP	ORPHA:175
HP:0002683	Abnormal calvaria morphology	6023	RMRP	OMIM:250250
HP:0002683	Abnormal calvaria morphology	84992	PIGY	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	93210	PGAP3	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	284098	PIGW	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	27315	PGAP2	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	55650	PIGV	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	9487	PIGL	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	9487	PIGL	ORPHA:3474
HP:0002683	Abnormal calvaria morphology	9487	PIGL	OMIM:280000
HP:0002683	Abnormal calvaria morphology	2892	GRIA3	OMIM:300699
HP:0002683	Abnormal calvaria morphology	2892	GRIA3	ORPHA:364028
HP:0002683	Abnormal calvaria morphology	129685	TAF8	OMIM:619972
HP:0002683	Abnormal calvaria morphology	2590	GALNT2	OMIM:618885
HP:0002683	Abnormal calvaria morphology	57492	ARID1B	OMIM:135900
HP:0002683	Abnormal calvaria morphology	10606	PAICS	OMIM:619859
HP:0002683	Abnormal calvaria morphology	23184	MESD	OMIM:618644
HP:0002683	Abnormal calvaria morphology	4313	MMP2	ORPHA:371428
HP:0002683	Abnormal calvaria morphology	4313	MMP2	OMIM:259600
HP:0002683	Abnormal calvaria morphology	4323	MMP14	ORPHA:371428
HP:0002683	Abnormal calvaria morphology	54476	RNF216	ORPHA:1173
HP:0002683	Abnormal calvaria morphology	10908	PNPLA6	ORPHA:1173
HP:0002683	Abnormal calvaria morphology	10908	PNPLA6	ORPHA:2377
HP:0002683	Abnormal calvaria morphology	51651	PTRH2	ORPHA:456312
HP:0002683	Abnormal calvaria morphology	51651	PTRH2	OMIM:616263
HP:0002683	Abnormal calvaria morphology	1009	CDH11	ORPHA:1299
HP:0002683	Abnormal calvaria morphology	1009	CDH11	OMIM:211380
HP:0002683	Abnormal calvaria morphology	2783	GNB2	OMIM:619503
HP:0002683	Abnormal calvaria morphology	26057	ANKRD17	OMIM:619504
HP:0002683	Abnormal calvaria morphology	4247	MGAT2	OMIM:212066
HP:0002683	Abnormal calvaria morphology	81794	ADAMTS10	OMIM:277600
HP:0002683	Abnormal calvaria morphology	55768	NGLY1	OMIM:615273
HP:0002683	Abnormal calvaria morphology	9895	TECPR2	OMIM:615031
HP:0002683	Abnormal calvaria morphology	9895	TECPR2	ORPHA:320385
HP:0002683	Abnormal calvaria morphology	56006	SMG9	OMIM:619995
HP:0002683	Abnormal calvaria morphology	1182	CLCN3	OMIM:619512
HP:0002683	Abnormal calvaria morphology	8558	CDK10	OMIM:617694
HP:0002683	Abnormal calvaria morphology	26053	AUTS2	OMIM:615834
HP:0002683	Abnormal calvaria morphology	8239	USP9X	ORPHA:480880
HP:0002683	Abnormal calvaria morphology	8239	USP9X	OMIM:300968
HP:0002683	Abnormal calvaria morphology	285175	UNC80	OMIM:616801
HP:0002683	Abnormal calvaria morphology	5590	PRKCZ	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	2563	GABRD	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	23013	SPEN	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	8510	MMP23B	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	7798	LUZP1	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	10630	PDPN	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	3339	HSPG2	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	10277	UBE4B	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	8514	KCNAB2	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	473	RERE	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	63976	PRDM16	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	54897	CASZ1	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	54499	TMCO1	OMIM:213980
HP:0002683	Abnormal calvaria morphology	54499	TMCO1	ORPHA:1394
HP:0002683	Abnormal calvaria morphology	157570	ESCO2	ORPHA:3103
HP:0002683	Abnormal calvaria morphology	157570	ESCO2	OMIM:268300
HP:0002683	Abnormal calvaria morphology	2517	FUCA1	ORPHA:349
HP:0002683	Abnormal calvaria morphology	10236	HNRNPR	OMIM:620073
HP:0002683	Abnormal calvaria morphology	79796	ALG9	ORPHA:79328
HP:0002683	Abnormal calvaria morphology	79796	ALG9	OMIM:608776
HP:0002683	Abnormal calvaria morphology	79796	ALG9	OMIM:263210
HP:0002683	Abnormal calvaria morphology	79718	TBL1XR1	OMIM:602342
HP:0002683	Abnormal calvaria morphology	79718	TBL1XR1	ORPHA:487825
HP:0002683	Abnormal calvaria morphology	2200	FBN1	OMIM:608328
HP:0002683	Abnormal calvaria morphology	26137	ZBTB20	OMIM:259050
HP:0002683	Abnormal calvaria morphology	58508	KMT2C	ORPHA:261652
HP:0002683	Abnormal calvaria morphology	8314	BAP1	OMIM:619762
HP:0002683	Abnormal calvaria morphology	4849	CNOT3	OMIM:618672
HP:0002683	Abnormal calvaria morphology	6942	TCF20	OMIM:618430
HP:0002683	Abnormal calvaria morphology	200424	TET3	OMIM:618798
HP:0002683	Abnormal calvaria morphology	5832	ALDH18A1	OMIM:219150
HP:0002683	Abnormal calvaria morphology	471	ATIC	OMIM:608688
HP:0002683	Abnormal calvaria morphology	471	ATIC	ORPHA:250977
HP:0002683	Abnormal calvaria morphology	57688	ZSWIM6	OMIM:603671
HP:0002683	Abnormal calvaria morphology	57688	ZSWIM6	ORPHA:1827
HP:0002683	Abnormal calvaria morphology	51567	TDP2	ORPHA:404493
HP:0002683	Abnormal calvaria morphology	8643	PTCH2	ORPHA:377
HP:0002683	Abnormal calvaria morphology	51684	SUFU	ORPHA:377
HP:0002683	Abnormal calvaria morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002683	Abnormal calvaria morphology	6611	SMS	OMIM:309583
HP:0002683	Abnormal calvaria morphology	6611	SMS	ORPHA:3063
HP:0002683	Abnormal calvaria morphology	25836	NIPBL	OMIM:122470
HP:0002683	Abnormal calvaria morphology	25836	NIPBL	ORPHA:199
HP:0002683	Abnormal calvaria morphology	51322	WAC	OMIM:616708
HP:0002683	Abnormal calvaria morphology	60681	FKBP10	OMIM:610968
HP:0002683	Abnormal calvaria morphology	701	BUB1B	OMIM:257300
HP:0002683	Abnormal calvaria morphology	29123	ANKRD11	OMIM:148050
HP:0002683	Abnormal calvaria morphology	5881	RAC3	OMIM:618577
HP:0002683	Abnormal calvaria morphology	5587	PRKD1	OMIM:617364
HP:0002683	Abnormal calvaria morphology	2702	GJA5	OMIM:612474
HP:0002683	Abnormal calvaria morphology	2703	GJA8	OMIM:612474
HP:0002683	Abnormal calvaria morphology	123016	TTC8	OMIM:615985
HP:0002683	Abnormal calvaria morphology	27152	INTU	OMIM:617925
HP:0002683	Abnormal calvaria morphology	56603	CYP26B1	OMIM:614416
HP:0002683	Abnormal calvaria morphology	5277	PIGA	OMIM:301072
HP:0002683	Abnormal calvaria morphology	55906	ZC4H2	OMIM:301041
HP:0002683	Abnormal calvaria morphology	6909	TBX2	OMIM:618223
HP:0002683	Abnormal calvaria morphology	56896	DPYSL5	OMIM:619435
HP:0002683	Abnormal calvaria morphology	23028	KDM1A	OMIM:616728
HP:0002683	Abnormal calvaria morphology	55869	HDAC8	OMIM:300882
HP:0002683	Abnormal calvaria morphology	55869	HDAC8	ORPHA:199
HP:0002683	Abnormal calvaria morphology	2623	GATA1	OMIM:190685
HP:0002683	Abnormal calvaria morphology	3313	HSPA9	OMIM:616854
HP:0002683	Abnormal calvaria morphology	79644	SRD5A3	OMIM:612379
HP:0002683	Abnormal calvaria morphology	51114	ZDHHC9	ORPHA:776
HP:0002683	Abnormal calvaria morphology	65109	UPF3B	ORPHA:776
HP:0002683	Abnormal calvaria morphology	9968	MED12	ORPHA:776
HP:0002683	Abnormal calvaria morphology	9126	SMC3	OMIM:610759
HP:0002683	Abnormal calvaria morphology	9126	SMC3	ORPHA:199
HP:0002683	Abnormal calvaria morphology	54496	PRMT7	OMIM:617157
HP:0002683	Abnormal calvaria morphology	10265	IRX5	OMIM:611174
HP:0002683	Abnormal calvaria morphology	3054	HCFC1	OMIM:309541
HP:0002683	Abnormal calvaria morphology	29940	DSE	OMIM:615539
HP:0002683	Abnormal calvaria morphology	259232	NALCN	OMIM:615419
HP:0002683	Abnormal calvaria morphology	51608	GET4	OMIM:620200
HP:0002683	Abnormal calvaria morphology	23389	MED13L	ORPHA:369891
HP:0002683	Abnormal calvaria morphology	23389	MED13L	OMIM:616789
HP:0002683	Abnormal calvaria morphology	7703	PCGF2	OMIM:618371
HP:0002683	Abnormal calvaria morphology	1301	COL11A1	ORPHA:560
HP:0002683	Abnormal calvaria morphology	26040	SETBP1	OMIM:616078
HP:0002683	Abnormal calvaria morphology	83696	TRAPPC9	ORPHA:352530
HP:0002683	Abnormal calvaria morphology	92949	ADAMTSL1	ORPHA:521445
HP:0002683	Abnormal calvaria morphology	128637	TBC1D20	OMIM:615663
HP:0002683	Abnormal calvaria morphology	175	AGA	OMIM:208400
HP:0002683	Abnormal calvaria morphology	23495	TNFRSF13B	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	4790	NFKB1	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	4791	NFKB2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	115650	TNFRSF13C	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	1380	CR2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	8742	TNFSF12	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	5580	PRKCD	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	930	CD19	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	29851	ICOS	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	931	MS4A1	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	975	CD81	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	359948	IRF2BP2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	6304	SATB1	OMIM:619229
HP:0002683	Abnormal calvaria morphology	23476	BRD4	ORPHA:199
HP:0002683	Abnormal calvaria morphology	10771	ZMYND11	OMIM:616083
HP:0002683	Abnormal calvaria morphology	57498	KIDINS220	OMIM:617296
HP:0002683	Abnormal calvaria morphology	57003	CCDC47	OMIM:618268
HP:0002683	Abnormal calvaria morphology	10526	IPO8	OMIM:619472
HP:0002683	Abnormal calvaria morphology	348180	CTU2	OMIM:618142
HP:0002683	Abnormal calvaria morphology	22931	RAB18	OMIM:614222
HP:0002683	Abnormal calvaria morphology	490	ATP2B1	OMIM:619910
HP:0002683	Abnormal calvaria morphology	538	ATP7A	OMIM:309400
HP:0002683	Abnormal calvaria morphology	8405	SPOP	OMIM:618828
HP:0002683	Abnormal calvaria morphology	5894	RAF1	ORPHA:500
HP:0002683	Abnormal calvaria morphology	10128	LRPPRC	ORPHA:70472
HP:0002683	Abnormal calvaria morphology	2132	EXT2	ORPHA:52022
HP:0002683	Abnormal calvaria morphology	51317	PHF21A	ORPHA:52022
HP:0002683	Abnormal calvaria morphology	84172	POLR1B	ORPHA:861
HP:0002683	Abnormal calvaria morphology	9533	POLR1C	ORPHA:861
HP:0002683	Abnormal calvaria morphology	51082	POLR1D	ORPHA:861
HP:0002683	Abnormal calvaria morphology	6949	TCOF1	ORPHA:861
HP:0002683	Abnormal calvaria morphology	113189	CHST14	OMIM:601776
HP:0002683	Abnormal calvaria morphology	203068	TUBB	OMIM:156610
HP:0002683	Abnormal calvaria morphology	10651	MTX2	OMIM:619127
HP:0002683	Abnormal calvaria morphology	91875	TTC5	OMIM:619244
HP:0002683	Abnormal calvaria morphology	202018	TAPT1	OMIM:616897
HP:0002683	Abnormal calvaria morphology	1654	DDX3X	OMIM:300958
HP:0002683	Abnormal calvaria morphology	9759	HDAC4	OMIM:600430
HP:0002683	Abnormal calvaria morphology	51	ACOX1	OMIM:264470
HP:0002683	Abnormal calvaria morphology	9897	WASHC5	OMIM:220210
HP:0002683	Abnormal calvaria morphology	5745	PTH1R	OMIM:156400
HP:0002683	Abnormal calvaria morphology	2629	GBA1	ORPHA:2072
HP:0002683	Abnormal calvaria morphology	9320	TRIP12	OMIM:617752
HP:0002683	Abnormal calvaria morphology	51594	NBAS	OMIM:614800
HP:0002683	Abnormal calvaria morphology	54187	NANS	OMIM:610442
HP:0002683	Abnormal calvaria morphology	5430	POLR2A	OMIM:618603
HP:0002683	Abnormal calvaria morphology	9939	RBM8A	OMIM:274000
HP:0002683	Abnormal calvaria morphology	2801	GOLGA2	OMIM:620240
HP:0002683	Abnormal calvaria morphology	9469	CHST3	OMIM:245600
HP:0002683	Abnormal calvaria morphology	26229	B3GAT3	OMIM:245600
HP:0002683	Abnormal calvaria morphology	4204	MECP2	OMIM:300260
HP:0002683	Abnormal calvaria morphology	1280	COL2A1	OMIM:200610
HP:0002683	Abnormal calvaria morphology	7043	TGFB3	OMIM:615582
HP:0002683	Abnormal calvaria morphology	4858	NOVA2	OMIM:618859
HP:0002683	Abnormal calvaria morphology	27445	PCLO	OMIM:608027
HP:0002683	Abnormal calvaria morphology	246329	STAC3	OMIM:255995
HP:0002683	Abnormal calvaria morphology	9990	SLC12A6	OMIM:218000
HP:0002683	Abnormal calvaria morphology	6448	SGSH	OMIM:252900
HP:0002683	Abnormal calvaria morphology	138050	HGSNAT	OMIM:252930
HP:0002683	Abnormal calvaria morphology	4669	NAGLU	OMIM:252920
HP:0002683	Abnormal calvaria morphology	9321	TRIP11	OMIM:200600
HP:0002683	Abnormal calvaria morphology	54	ACP5	OMIM:607944
HP:0002683	Abnormal calvaria morphology	55612	FERMT1	ORPHA:2908
HP:0002683	Abnormal calvaria morphology	2879	GPX4	ORPHA:93317
HP:0002683	Abnormal calvaria morphology	2879	GPX4	OMIM:250220
HP:0002683	Abnormal calvaria morphology	80036	TRPM3	OMIM:620224
HP:0002683	Abnormal calvaria morphology	164	AP1G1	OMIM:619467
HP:0002683	Abnormal calvaria morphology	23030	KDM4B	OMIM:619320
HP:0002683	Abnormal calvaria morphology	84282	RNF135	ORPHA:137634
HP:0002683	Abnormal calvaria morphology	10000	AKT3	ORPHA:99802
HP:0002683	Abnormal calvaria morphology	128	ADH5	OMIM:619151
HP:0002683	Abnormal calvaria morphology	28981	IFT81	OMIM:617895
HP:0002683	Abnormal calvaria morphology	9853	RUSC2	OMIM:617773
HP:0002683	Abnormal calvaria morphology	8506	CNTNAP1	OMIM:618186
HP:0002683	Abnormal calvaria morphology	23135	KDM6B	OMIM:618505
HP:0002683	Abnormal calvaria morphology	8425	LTBP4	OMIM:613177
HP:0002683	Abnormal calvaria morphology	51126	NAA20	OMIM:619717
HP:0002683	Abnormal calvaria morphology	9820	CUL7	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	9820	CUL7	OMIM:273750
HP:0002683	Abnormal calvaria morphology	23363	OBSL1	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	23363	OBSL1	OMIM:612921
HP:0002683	Abnormal calvaria morphology	83987	CCDC8	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	83987	CCDC8	OMIM:614205
HP:0002683	Abnormal calvaria morphology	23169	SLC35D1	ORPHA:3144
HP:0002683	Abnormal calvaria morphology	23118	TAB2	ORPHA:228410
HP:0002683	Abnormal calvaria morphology	22858	CILK1	OMIM:612651
HP:0002683	Abnormal calvaria morphology	55904	KMT2E	OMIM:618512
HP:0002683	Abnormal calvaria morphology	129563	DIS3L2	ORPHA:2849
HP:0002683	Abnormal calvaria morphology	55780	ERMARD	ORPHA:75857
HP:0002683	Abnormal calvaria morphology	55870	ASH1L	OMIM:617796
HP:0002683	Abnormal calvaria morphology	672	BRCA1	ORPHA:84
HP:0002683	Abnormal calvaria morphology	10459	MAD2L2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	7516	XRCC2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	29089	UBE2T	ORPHA:84
HP:0002683	Abnormal calvaria morphology	675	BRCA2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55120	FANCL	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2177	FANCD2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2175	FANCA	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2187	FANCB	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2176	FANCC	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2178	FANCE	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2188	FANCF	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2189	FANCG	ORPHA:84
HP:0002683	Abnormal calvaria morphology	5888	RAD51	ORPHA:84
HP:0002683	Abnormal calvaria morphology	5889	RAD51C	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55159	RFWD3	ORPHA:84
HP:0002683	Abnormal calvaria morphology	83990	BRIP1	ORPHA:84
HP:0002683	Abnormal calvaria morphology	57697	FANCM	ORPHA:84
HP:0002683	Abnormal calvaria morphology	79728	PALB2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	84464	SLX4	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55215	FANCI	ORPHA:84
HP:0002683	Abnormal calvaria morphology	7020	TFAP2A	OMIM:113620
HP:0002683	Abnormal calvaria morphology	7020	TFAP2A	ORPHA:1297
HP:0002683	Abnormal calvaria morphology	4297	KMT2A	ORPHA:319182
HP:0002683	Abnormal calvaria morphology	23327	NEDD4L	OMIM:617201
HP:0002683	Abnormal calvaria morphology	4591	TRIM37	OMIM:253250
HP:0002683	Abnormal calvaria morphology	4598	MVK	OMIM:610377
HP:0002683	Abnormal calvaria morphology	4598	MVK	ORPHA:29
HP:0002683	Abnormal calvaria morphology	4534	MTM1	ORPHA:596
HP:0002683	Abnormal calvaria morphology	4534	MTM1	OMIM:310400
HP:0002683	Abnormal calvaria morphology	253738	EBF3	OMIM:617330
HP:0002683	Abnormal calvaria morphology	23312	DMXL2	OMIM:618663
HP:0002683	Abnormal calvaria morphology	7701	ZNF142	OMIM:618425
HP:0002683	Abnormal calvaria morphology	6134	RPL10	ORPHA:459070
HP:0002683	Abnormal calvaria morphology	6134	RPL10	OMIM:300998
HP:0002683	Abnormal calvaria morphology	8085	KMT2D	OMIM:620186
HP:0002683	Abnormal calvaria morphology	5700	PSMC1	OMIM:620071
HP:0002683	Abnormal calvaria morphology	56098	PCDHGC4	OMIM:619880
HP:0002683	Abnormal calvaria morphology	641	BLM	OMIM:210900
HP:0002683	Abnormal calvaria morphology	546	ATRX	OMIM:309580
HP:0002683	Abnormal calvaria morphology	4882	NPR2	ORPHA:40
HP:0002683	Abnormal calvaria morphology	26173	INTS1	OMIM:618571
HP:0002683	Abnormal calvaria morphology	10765	KDM5B	OMIM:618109
HP:0002683	Abnormal calvaria morphology	85358	SHANK3	OMIM:606232
HP:0002683	Abnormal calvaria morphology	85358	SHANK3	ORPHA:48652
HP:0002683	Abnormal calvaria morphology	7681	MKRN3	OMIM:176270
HP:0002683	Abnormal calvaria morphology	3653	IPW	OMIM:176270
HP:0002683	Abnormal calvaria morphology	54551	MAGEL2	OMIM:176270
HP:0002683	Abnormal calvaria morphology	791114	PWRN1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	100033413	SNORD116-1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	8924	HERC2	OMIM:176270
HP:0002683	Abnormal calvaria morphology	145624	PWAR1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	23742	NPAP1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	338433	SNORD115-1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	1482	NKX2-5	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	137814	NKX2-6	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	23414	ZFPM2	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	3791	KDR	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2627	GATA6	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2657	GDF1	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	182	JAG1	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	140628	GATA5	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2324	FLT4	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	10370	CITED2	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	411	ARSB	OMIM:253200
HP:0002683	Abnormal calvaria morphology	5631	PRPS1	ORPHA:423479
HP:0002683	Abnormal calvaria morphology	29998	BICRA	OMIM:619325
HP:0002683	Abnormal calvaria morphology	9342	SNAP29	ORPHA:66631
HP:0002683	Abnormal calvaria morphology	1289	COL5A1	OMIM:619329
HP:0002683	Abnormal calvaria morphology	23221	RHOBTB2	OMIM:618004
HP:0002683	Abnormal calvaria morphology	3756	KCNH1	OMIM:135500
HP:0002683	Abnormal calvaria morphology	10943	MSL3	OMIM:301032
HP:0002683	Abnormal calvaria morphology	633	BGN	OMIM:300989
HP:0002683	Abnormal calvaria morphology	51305	KCNK9	ORPHA:166108
HP:0002683	Abnormal calvaria morphology	116442	RAB39B	OMIM:300271
HP:0002683	Abnormal calvaria morphology	9997	SCO2	OMIM:604377
HP:0002683	Abnormal calvaria morphology	6711	SPTBN1	OMIM:619475
HP:0002683	Abnormal calvaria morphology	2254	FGF9	OMIM:612961
HP:0002683	Abnormal calvaria morphology	79005	SCNM1	OMIM:620107
HP:0002683	Abnormal calvaria morphology	11198	SUPT16H	OMIM:619480
HP:0002683	Abnormal calvaria morphology	8567	MADD	OMIM:619005
HP:0002683	Abnormal calvaria morphology	5297	PI4KA	OMIM:616531
HP:0002683	Abnormal calvaria morphology	5297	PI4KA	OMIM:619708
HP:0002683	Abnormal calvaria morphology	23233	EXOC6B	OMIM:618395
HP:0002683	Abnormal calvaria morphology	83737	ITCH	OMIM:613385
HP:0002683	Abnormal calvaria morphology	83737	ITCH	ORPHA:228426
HP:0002683	Abnormal calvaria morphology	6519	SLC3A1	ORPHA:163690
HP:0002683	Abnormal calvaria morphology	9581	PREPL	ORPHA:163690
HP:0002683	Abnormal calvaria morphology	5528	PPP2R5D	ORPHA:457279
HP:0002683	Abnormal calvaria morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0002683	Abnormal calvaria morphology	1146	CHRNG	ORPHA:2990
HP:0002683	Abnormal calvaria morphology	7042	TGFB2	OMIM:614816
HP:0002683	Abnormal calvaria morphology	23019	CNOT1	OMIM:618500
HP:0002683	Abnormal calvaria morphology	23019	CNOT1	ORPHA:556955
HP:0002683	Abnormal calvaria morphology	57061	HYMAI	ORPHA:96191
HP:0002683	Abnormal calvaria morphology	5325	PLAGL1	ORPHA:96191
HP:0002683	Abnormal calvaria morphology	1861	TOR1A	OMIM:618947
HP:0002683	Abnormal calvaria morphology	10220	GDF11	OMIM:619122
HP:0002683	Abnormal calvaria morphology	6911	TBX6	ORPHA:1797
HP:0002683	Abnormal calvaria morphology	7841	MOGS	ORPHA:79330
HP:0002683	Abnormal calvaria morphology	7841	MOGS	OMIM:606056
HP:0002683	Abnormal calvaria morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002683	Abnormal calvaria morphology	3784	KCNQ1	OMIM:130650
HP:0002683	Abnormal calvaria morphology	7021	TFAP2B	ORPHA:46627
HP:0002683	Abnormal calvaria morphology	134701	RIPPLY2	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	10683	DLL3	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	3955	LFNG	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	84667	HES7	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	145873	MESP2	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	1147	CHUK	OMIM:619339
HP:0002683	Abnormal calvaria morphology	23522	KAT6B	ORPHA:3047
HP:0002683	Abnormal calvaria morphology	23522	KAT6B	OMIM:603736
HP:0002683	Abnormal calvaria morphology	4613	MYCN	OMIM:164280
HP:0002683	Abnormal calvaria morphology	26235	FBXL4	OMIM:615471
HP:0002683	Abnormal calvaria morphology	8573	CASK	OMIM:300749
HP:0002683	Abnormal calvaria morphology	6418	SET	OMIM:618106
HP:0002683	Abnormal calvaria morphology	4897	NRCAM	OMIM:619833
HP:0002683	Abnormal calvaria morphology	170302	ARX	OMIM:308350
HP:0002683	Abnormal calvaria morphology	1836	SLC26A2	ORPHA:56304
HP:0002683	Abnormal calvaria morphology	27125	AFF4	ORPHA:444077
HP:0002683	Abnormal calvaria morphology	5575	PRKAR1B	OMIM:619680
HP:0002683	Abnormal calvaria morphology	5515	PPP2CA	OMIM:618354
HP:0002683	Abnormal calvaria morphology	3020	H3-3A	OMIM:619720
HP:0002683	Abnormal calvaria morphology	113179	ADAT3	ORPHA:363528
HP:0002683	Abnormal calvaria morphology	283489	CHAMP1	OMIM:616579
HP:0002683	Abnormal calvaria morphology	84162	BLTP1	OMIM:617822
HP:0002683	Abnormal calvaria morphology	64221	ROBO3	OMIM:607313
HP:0002683	Abnormal calvaria morphology	6904	TBCD	ORPHA:496641
HP:0002683	Abnormal calvaria morphology	6904	TBCD	OMIM:617193
HP:0002683	Abnormal calvaria morphology	6595	SMARCA2	OMIM:619293
HP:0002683	Abnormal calvaria morphology	80204	FBXO11	OMIM:618089
HP:0002683	Abnormal calvaria morphology	1778	DYNC1H1	OMIM:614563
HP:0002683	Abnormal calvaria morphology	26999	CYFIP2	OMIM:618008
HP:0002683	Abnormal calvaria morphology	2009	EML1	OMIM:600348
HP:0002683	Abnormal calvaria morphology	23036	ZNF292	OMIM:619188
HP:0002683	Abnormal calvaria morphology	51729	WBP11	OMIM:619227
HP:0002683	Abnormal calvaria morphology	1302	COL11A2	ORPHA:2021
HP:0002683	Abnormal calvaria morphology	57167	SALL4	ORPHA:233
HP:0002683	Abnormal calvaria morphology	9935	MAFB	ORPHA:233
HP:0002683	Abnormal calvaria morphology	1123	CHN1	ORPHA:233
HP:0002683	Abnormal calvaria morphology	5518	PPP2R1A	OMIM:616362
HP:0002683	Abnormal calvaria morphology	5518	PPP2R1A	ORPHA:457284
HP:0002683	Abnormal calvaria morphology	112858	TP53RK	OMIM:617730
HP:0002683	Abnormal calvaria morphology	54914	FOCAD	OMIM:619991
HP:0002683	Abnormal calvaria morphology	91461	PKDCC	OMIM:618821
HP:0002683	Abnormal calvaria morphology	9091	PIGQ	OMIM:618548
HP:0002683	Abnormal calvaria morphology	5594	MAPK1	OMIM:619087
HP:0002683	Abnormal calvaria morphology	7358	UGDH	OMIM:618792
HP:0002683	Abnormal calvaria morphology	388015	RTL1	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	8788	DLK1	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	55384	MEG3	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	3187	HNRNPH1	OMIM:620083
HP:0002683	Abnormal calvaria morphology	57502	NLGN4X	OMIM:300495
HP:0002683	Abnormal calvaria morphology	5879	RAC1	OMIM:617751
HP:0002683	Abnormal calvaria morphology	5879	RAC1	ORPHA:500159
HP:0002683	Abnormal calvaria morphology	1984	EIF5A	OMIM:619376
HP:0002683	Abnormal calvaria morphology	51360	MBTPS2	ORPHA:85284
HP:0002683	Abnormal calvaria morphology	84168	ANTXR1	OMIM:230740
HP:0002683	Abnormal calvaria morphology	22856	CHSY1	OMIM:605282
HP:0002683	Abnormal calvaria morphology	1807	DPYS	OMIM:222748
HP:0002683	Abnormal calvaria morphology	58497	PRUNE1	OMIM:617481
HP:0002683	Abnormal calvaria morphology	58497	PRUNE1	ORPHA:544469
HP:0002683	Abnormal calvaria morphology	57647	DHX37	OMIM:618731
HP:0002683	Abnormal calvaria morphology	8621	CDK13	OMIM:617360
HP:0002683	Abnormal calvaria morphology	284361	EMC10	OMIM:619264
HP:0002683	Abnormal calvaria morphology	1523	CUX1	OMIM:618330
HP:0002683	Abnormal calvaria morphology	341208	HEPHL1	OMIM:261990
HP:0002683	Abnormal calvaria morphology	25871	NEPRO	OMIM:618853
HP:0002683	Abnormal calvaria morphology	196528	ARID2	OMIM:617808
HP:0002683	Abnormal calvaria morphology	10535	RNASEH2A	ORPHA:51
HP:0002683	Abnormal calvaria morphology	84153	RNASEH2C	ORPHA:51
HP:0002683	Abnormal calvaria morphology	25939	SAMHD1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	79621	RNASEH2B	ORPHA:51
HP:0002683	Abnormal calvaria morphology	103	ADAR	ORPHA:51
HP:0002683	Abnormal calvaria morphology	11277	TREX1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	100147744	RNU7-1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	134353	LSM11	ORPHA:51
HP:0002683	Abnormal calvaria morphology	389827	MYMK	OMIM:254940
HP:0002683	Abnormal calvaria morphology	865	CBFB	OMIM:620099
HP:0002683	Abnormal calvaria morphology	341640	FREM2	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	80144	FRAS1	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	80144	FRAS1	OMIM:219000
HP:0002683	Abnormal calvaria morphology	23426	GRIP1	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	54567	DLL4	OMIM:616589
HP:0002683	Abnormal calvaria morphology	54567	DLL4	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	54567	DLL4	ORPHA:974
HP:0002683	Abnormal calvaria morphology	57514	ARHGAP31	OMIM:100300
HP:0002683	Abnormal calvaria morphology	57514	ARHGAP31	ORPHA:974
HP:0002683	Abnormal calvaria morphology	3930	LBR	ORPHA:1426
HP:0002683	Abnormal calvaria morphology	284252	KCTD1	OMIM:181270
HP:0002683	Abnormal calvaria morphology	197131	UBR1	OMIM:243800
HP:0002683	Abnormal calvaria morphology	54872	PIGG	ORPHA:280
HP:0002683	Abnormal calvaria morphology	7469	NELFA	ORPHA:280
HP:0002683	Abnormal calvaria morphology	9790	BMS1	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	5339	PLEC	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	10054	UBA2	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	3691	ITGB4	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	80781	COL18A1	ORPHA:1571
HP:0002683	Abnormal calvaria morphology	5062	PAK2	ORPHA:1571
HP:0002683	Abnormal calvaria morphology	3516	RBPJ	ORPHA:974
HP:0002683	Abnormal calvaria morphology	4851	NOTCH1	ORPHA:974
HP:0002683	Abnormal calvaria morphology	57572	DOCK6	ORPHA:974
HP:0002683	Abnormal calvaria morphology	285203	EOGT	ORPHA:974
HP:0002683	Abnormal calvaria morphology	4088	SMAD3	ORPHA:284984
HP:0002683	Abnormal calvaria morphology	4088	SMAD3	OMIM:613795
HP:0002683	Abnormal calvaria morphology	7528	YY1	ORPHA:506358
HP:0002683	Abnormal calvaria morphology	64116	SLC39A8	OMIM:616721
HP:0002683	Abnormal calvaria morphology	64116	SLC39A8	ORPHA:468699
HP:0002683	Abnormal calvaria morphology	7355	SLC35A2	ORPHA:356961
HP:0002683	Abnormal calvaria morphology	26115	TANC2	OMIM:618906
HP:0002683	Abnormal calvaria morphology	64324	NSD1	ORPHA:821
HP:0002683	Abnormal calvaria morphology	29072	SETD2	ORPHA:821
HP:0002683	Abnormal calvaria morphology	10297	APC2	ORPHA:821
HP:0002683	Abnormal calvaria morphology	1186	CLCN7	ORPHA:667
HP:0002683	Abnormal calvaria morphology	29887	SNX10	ORPHA:667
HP:0002683	Abnormal calvaria morphology	55593	OTUD5	OMIM:301056
HP:0002683	Abnormal calvaria morphology	4774	NFIA	ORPHA:401986
HP:0002683	Abnormal calvaria morphology	27245	AHDC1	ORPHA:412069
HP:0002683	Abnormal calvaria morphology	10157	AASS	ORPHA:2203
HP:0002683	Abnormal calvaria morphology	51098	IFT52	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	284058	KANSL1	ORPHA:363958
HP:0002683	Abnormal calvaria morphology	284058	KANSL1	ORPHA:363965
HP:0002683	Abnormal calvaria morphology	9739	SETD1A	OMIM:619056
HP:0002683	Abnormal calvaria morphology	6774	STAT3	ORPHA:2314
HP:0002683	Abnormal calvaria morphology	6774	STAT3	OMIM:147060
HP:0002683	Abnormal calvaria morphology	7994	KAT6A	ORPHA:457193
HP:0002683	Abnormal calvaria morphology	7994	KAT6A	OMIM:616268
HP:0002683	Abnormal calvaria morphology	4091	SMAD6	OMIM:617439
HP:0002683	Abnormal calvaria morphology	81620	CDT1	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	5000	ORC4	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	23594	ORC6	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	990	CDC6	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	4998	ORC1	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	51053	GMNN	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	29968	PSAT1	ORPHA:284417
HP:0002683	Abnormal calvaria morphology	1028	CDKN1C	OMIM:614732
HP:0002683	Abnormal calvaria morphology	29980	DONSON	OMIM:251230
HP:0002683	Abnormal calvaria morphology	54888	NSUN2	ORPHA:235
HP:0002683	Abnormal calvaria morphology	11285	B4GALT7	OMIM:130070
HP:0002683	Abnormal calvaria morphology	5251	PHEX	ORPHA:89936
HP:0002683	Abnormal calvaria morphology	26038	CHD5	OMIM:619873
HP:0002683	Abnormal calvaria morphology	10664	CTCF	ORPHA:363611
HP:0002683	Abnormal calvaria morphology	149371	EXOC8	OMIM:619076
HP:0002683	Abnormal calvaria morphology	92002	CCNQ	OMIM:300707
HP:0002683	Abnormal calvaria morphology	9508	ADAMTS3	ORPHA:2136
HP:0002683	Abnormal calvaria morphology	79633	FAT4	ORPHA:2136
HP:0002683	Abnormal calvaria morphology	10283	CWC27	OMIM:250410
HP:0002683	Abnormal calvaria morphology	10283	CWC27	ORPHA:166035
HP:0002683	Abnormal calvaria morphology	81031	SLC2A10	ORPHA:3342
HP:0002683	Abnormal calvaria morphology	2317	FLNB	ORPHA:503
HP:0002683	Abnormal calvaria morphology	374879	ZNF699	OMIM:619488
HP:0002683	Abnormal calvaria morphology	9702	CEP57	OMIM:614114
HP:0002683	Abnormal calvaria morphology	5500	PPP1CB	OMIM:617506
HP:0002683	Abnormal calvaria morphology	4621	MYH3	OMIM:178110
HP:0002683	Abnormal calvaria morphology	1758	DMP1	ORPHA:289176
HP:0002683	Abnormal calvaria morphology	1758	DMP1	OMIM:241520
HP:0002683	Abnormal calvaria morphology	5167	ENPP1	ORPHA:289176
HP:0002683	Abnormal calvaria morphology	7048	TGFBR2	OMIM:610168
HP:0002683	Abnormal calvaria morphology	7048	TGFBR2	ORPHA:60030
HP:0002683	Abnormal calvaria morphology	545	ATR	ORPHA:808
HP:0002683	Abnormal calvaria morphology	1062	CENPE	ORPHA:808
HP:0002683	Abnormal calvaria morphology	5116	PCNT	ORPHA:808
HP:0002683	Abnormal calvaria morphology	5932	RBBP8	ORPHA:808
HP:0002683	Abnormal calvaria morphology	79902	NUP85	ORPHA:808
HP:0002683	Abnormal calvaria morphology	84126	ATRIP	ORPHA:808
HP:0002683	Abnormal calvaria morphology	55835	CENPJ	ORPHA:808
HP:0002683	Abnormal calvaria morphology	22995	CEP152	ORPHA:808
HP:0002683	Abnormal calvaria morphology	10584	COLEC10	ORPHA:293843
HP:0002683	Abnormal calvaria morphology	6885	MAP3K7	ORPHA:1826
HP:0002683	Abnormal calvaria morphology	833	CARS1	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	7737	RNF113A	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	136647	MPLKIP	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	6897	TARS1	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	11011	TLK2	OMIM:618050
HP:0002683	Abnormal calvaria morphology	25970	SH2B1	ORPHA:261197
HP:0002683	Abnormal calvaria morphology	7046	TGFBR1	ORPHA:60030
HP:0002683	Abnormal calvaria morphology	7046	TGFBR1	OMIM:609192
HP:0002683	Abnormal calvaria morphology	10082	GPC6	ORPHA:93329
HP:0002683	Abnormal calvaria morphology	4281	MID1	ORPHA:2745
HP:0002683	Abnormal calvaria morphology	3852	KRT5	ORPHA:79396
HP:0002683	Abnormal calvaria morphology	3861	KRT14	ORPHA:79396
HP:0002683	Abnormal calvaria morphology	1718	DHCR24	OMIM:602398
HP:0002683	Abnormal calvaria morphology	1718	DHCR24	ORPHA:35107
HP:0002683	Abnormal calvaria morphology	1497	CTNS	OMIM:219800
HP:0002683	Abnormal calvaria morphology	1139	CHRNA7	ORPHA:199318
HP:0002683	Abnormal calvaria morphology	83932	SPRTN	OMIM:616200
HP:0002683	Abnormal calvaria morphology	7360	UGP2	OMIM:618744
HP:0002683	Abnormal calvaria morphology	8942	KYNU	OMIM:617661
HP:0002683	Abnormal calvaria morphology	55790	CSGALNACT1	OMIM:618870
HP:0002683	Abnormal calvaria morphology	4286	MITF	OMIM:617306
HP:0002683	Abnormal calvaria morphology	6660	SOX5	ORPHA:313892
HP:0002683	Abnormal calvaria morphology	6660	SOX5	OMIM:616803
HP:0002683	Abnormal calvaria morphology	1896	EDA	OMIM:305100
HP:0002683	Abnormal calvaria morphology	1896	EDA	ORPHA:181
HP:0002683	Abnormal calvaria morphology	64359	NXN	OMIM:618529
HP:0002683	Abnormal calvaria morphology	64359	NXN	ORPHA:1507
HP:0002683	Abnormal calvaria morphology	4920	ROR2	ORPHA:1507
HP:0002683	Abnormal calvaria morphology	4920	ROR2	OMIM:268310
HP:0002683	Abnormal calvaria morphology	5191	PEX7	OMIM:215100
HP:0002683	Abnormal calvaria morphology	2035	EPB41	ORPHA:288
HP:0002683	Abnormal calvaria morphology	2995	GYPC	ORPHA:288
HP:0002683	Abnormal calvaria morphology	6710	SPTB	ORPHA:288
HP:0002683	Abnormal calvaria morphology	6708	SPTA1	ORPHA:288
HP:0002683	Abnormal calvaria morphology	10484	SEC23A	OMIM:607812
HP:0002683	Abnormal calvaria morphology	10484	SEC23A	ORPHA:50814
HP:0002683	Abnormal calvaria morphology	1105	CHD1	OMIM:617682
HP:0002683	Abnormal calvaria morphology	1105	CHD1	ORPHA:529965
HP:0002683	Abnormal calvaria morphology	1656	DDX6	OMIM:618653
HP:0002683	Abnormal calvaria morphology	5813	PURA	ORPHA:438216
HP:0002683	Abnormal calvaria morphology	6602	SMARCD1	OMIM:618779
HP:0002683	Abnormal calvaria morphology	3043	HBB	ORPHA:231214
HP:0002683	Abnormal calvaria morphology	3043	HBB	ORPHA:231226
HP:0002683	Abnormal calvaria morphology	6905	TBCE	OMIM:241410
HP:0002683	Abnormal calvaria morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002683	Abnormal calvaria morphology	7531	YWHAE	ORPHA:217385
HP:0002683	Abnormal calvaria morphology	3481	IGF2	OMIM:616489
HP:0002683	Abnormal calvaria morphology	3481	IGF2	OMIM:180860
HP:0002683	Abnormal calvaria morphology	3481	IGF2	ORPHA:397590
HP:0002683	Abnormal calvaria morphology	92609	TIMM50	OMIM:617698
HP:0002683	Abnormal calvaria morphology	83479	DDX59	ORPHA:2919
HP:0002683	Abnormal calvaria morphology	83479	DDX59	OMIM:174300
HP:0002683	Abnormal calvaria morphology	2271	FH	OMIM:606812
HP:0002683	Abnormal calvaria morphology	23556	PIGN	OMIM:614080
HP:0002683	Abnormal calvaria morphology	23007	PLCH1	OMIM:619895
HP:0002683	Abnormal calvaria morphology	79989	IFT56	OMIM:619534
HP:0002683	Abnormal calvaria morphology	1107	CHD3	OMIM:618205
HP:0002683	Abnormal calvaria morphology	1749	DLX5	OMIM:220600
HP:0002683	Abnormal calvaria morphology	5426	POLE	OMIM:618336
HP:0002683	Abnormal calvaria morphology	5426	POLE	ORPHA:85173
HP:0002683	Abnormal calvaria morphology	7227	TRPS1	ORPHA:77258
HP:0002683	Abnormal calvaria morphology	4921	DDR2	OMIM:271665
HP:0002683	Abnormal calvaria morphology	8925	HERC1	OMIM:617011
HP:0002683	Abnormal calvaria morphology	54892	NCAPG2	OMIM:618460
HP:0002683	Abnormal calvaria morphology	7707	ZNF148	OMIM:617260
HP:0002683	Abnormal calvaria morphology	2710	GK	OMIM:307030
HP:0002683	Abnormal calvaria morphology	3039	HBA1	ORPHA:98791
HP:0002683	Abnormal calvaria morphology	3040	HBA2	ORPHA:98791
HP:0002683	Abnormal calvaria morphology	5831	PYCR1	OMIM:612940
HP:0002683	Abnormal calvaria morphology	23258	DENND5A	OMIM:617281
HP:0002683	Abnormal calvaria morphology	9496	TBX4	ORPHA:261279
HP:0002683	Abnormal calvaria morphology	8091	HMGA2	ORPHA:94063
HP:0002683	Abnormal calvaria morphology	8091	HMGA2	ORPHA:397590
HP:0002683	Abnormal calvaria morphology	10013	HDAC6	OMIM:300863
HP:0002683	Abnormal calvaria morphology	10013	HDAC6	ORPHA:163966
HP:0002683	Abnormal calvaria morphology	3977	LIFR	OMIM:601559
HP:0002683	Abnormal calvaria morphology	2475	MTOR	ORPHA:457485
HP:0002683	Abnormal calvaria morphology	2475	MTOR	OMIM:616638
HP:0002683	Abnormal calvaria morphology	4990	SIX6	OMIM:206900
HP:0002683	Abnormal calvaria morphology	6657	SOX2	OMIM:206900
HP:0002683	Abnormal calvaria morphology	4796	TONSL	OMIM:271510
HP:0002683	Abnormal calvaria morphology	4796	TONSL	ORPHA:93357
HP:0002683	Abnormal calvaria morphology	2887	GRB10	ORPHA:96182
HP:0002683	Abnormal calvaria morphology	23405	DICER1	OMIM:618272
HP:0002683	Abnormal calvaria morphology	55210	ATAD3A	OMIM:617183
HP:0002683	Abnormal calvaria morphology	1298	COL9A2	OMIM:600204
HP:0002683	Abnormal calvaria morphology	5058	PAK1	OMIM:618158
HP:0002683	Abnormal calvaria morphology	25839	COG4	ORPHA:85172
HP:0002683	Abnormal calvaria morphology	64093	SMOC1	OMIM:206920
HP:0002683	Abnormal calvaria morphology	64093	SMOC1	ORPHA:1106
HP:0002683	Abnormal calvaria morphology	2799	GNS	OMIM:252940
HP:0002683	Abnormal calvaria morphology	55599	RNPC3	OMIM:618160
HP:0002683	Abnormal calvaria morphology	7474	WNT5A	OMIM:180700
HP:0002683	Abnormal calvaria morphology	7474	WNT5A	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	28952	CCDC22	ORPHA:7
HP:0002683	Abnormal calvaria morphology	6913	TBX15	OMIM:260660
HP:0002683	Abnormal calvaria morphology	6913	TBX15	ORPHA:93333
HP:0002683	Abnormal calvaria morphology	55181	SMG8	OMIM:619268
HP:0002683	Abnormal calvaria morphology	775	CACNA1C	OMIM:620029
HP:0002683	Abnormal calvaria morphology	4983	OPHN1	OMIM:300486
HP:0002683	Abnormal calvaria morphology	55112	DYNC2I1	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	57560	IFT80	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	79659	DYNC2H1	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	89891	DYNC2I2	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	9442	MED27	OMIM:619286
HP:0002683	Abnormal calvaria morphology	6662	SOX9	OMIM:114290
HP:0002683	Abnormal calvaria morphology	5744	PTHLH	ORPHA:93387
HP:0002683	Abnormal calvaria morphology	3239	HOXD13	ORPHA:93387
HP:0002683	Abnormal calvaria morphology	4758	NEU1	ORPHA:812
HP:0002683	Abnormal calvaria morphology	150468	CKAP2L	ORPHA:3255
HP:0002683	Abnormal calvaria morphology	324	APC	ORPHA:3258
HP:0002683	Abnormal calvaria morphology	83550	GPR101	ORPHA:963
HP:0002683	Abnormal calvaria morphology	9049	AIP	ORPHA:963
HP:0002683	Abnormal calvaria morphology	9049	AIP	ORPHA:99725
HP:0002683	Abnormal calvaria morphology	9377	COX5A	OMIM:619064
HP:0002683	Abnormal calvaria morphology	1327	COX4I1	OMIM:619060
HP:0002683	Abnormal calvaria morphology	9184	BUB3	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	699	BUB1	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	9319	TRIP13	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	10682	EBP	ORPHA:35173
HP:0002683	Abnormal calvaria morphology	10682	EBP	OMIM:302960
HP:0002683	Abnormal calvaria morphology	4338	MOCS2	OMIM:252160
HP:0002683	Abnormal calvaria morphology	657	BMPR1A	ORPHA:79076
HP:0002683	Abnormal calvaria morphology	25942	SIN3A	OMIM:613406
HP:0002683	Abnormal calvaria morphology	1857	DVL3	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	1857	DVL3	OMIM:616894
HP:0002683	Abnormal calvaria morphology	2535	FZD2	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	2535	FZD2	OMIM:164745
HP:0002683	Abnormal calvaria morphology	2535	FZD2	ORPHA:93328
HP:0002683	Abnormal calvaria morphology	2332	FMR1	ORPHA:908
HP:0002683	Abnormal calvaria morphology	23137	SMC5	OMIM:620185
HP:0002683	Abnormal calvaria morphology	57459	GATAD2B	ORPHA:363686
HP:0002683	Abnormal calvaria morphology	728294	D2HGDH	OMIM:600721
HP:0002683	Abnormal calvaria morphology	5324	PLAG1	ORPHA:397590
HP:0002683	Abnormal calvaria morphology	4221	MEN1	ORPHA:99725
HP:0002683	Abnormal calvaria morphology	114548	NLRP3	OMIM:607115
HP:0002683	Abnormal calvaria morphology	114548	NLRP3	ORPHA:1451
HP:0002683	Abnormal calvaria morphology	5295	PIK3R1	OMIM:269880
HP:0002683	Abnormal calvaria morphology	254065	BRWD3	OMIM:300659
HP:0002683	Abnormal calvaria morphology	9652	SKIC3	OMIM:222470
HP:0002683	Abnormal calvaria morphology	10661	KLF1	OMIM:613673
HP:0002683	Abnormal calvaria morphology	729920	CRPPA	OMIM:614643
HP:0002683	Abnormal calvaria morphology	91252	SLC39A13	OMIM:612350
HP:0002683	Abnormal calvaria morphology	867	CBL	OMIM:613563
HP:0002683	Abnormal calvaria morphology	51025	PAM16	OMIM:613320
HP:0002683	Abnormal calvaria morphology	8260	NAA10	ORPHA:276432
HP:0002683	Abnormal calvaria morphology	3720	JARID2	OMIM:620098
HP:0002683	Abnormal calvaria morphology	132	ADK	OMIM:614300
HP:0002683	Abnormal calvaria morphology	79650	USB1	OMIM:604173
HP:0002683	Abnormal calvaria morphology	5160	PDHA1	OMIM:312170
HP:0002683	Abnormal calvaria morphology	4792	NFKBIA	OMIM:612132
HP:0002683	Abnormal calvaria morphology	2902	GRIN1	OMIM:617820
HP:0002683	Abnormal calvaria morphology	10735	STAG2	OMIM:301022
HP:0002683	Abnormal calvaria morphology	8517	IKBKG	OMIM:300291
HP:0002683	Abnormal calvaria morphology	1000	CDH2	OMIM:618929
HP:0002683	Abnormal calvaria morphology	176	ACAN	OMIM:165800
HP:0002683	Abnormal calvaria morphology	3758	KCNJ1	OMIM:241200
HP:0002683	Abnormal calvaria morphology	25	ABL1	OMIM:617602
HP:0002683	Abnormal calvaria morphology	9419	CRIPT	OMIM:615789
HP:0002683	Abnormal calvaria morphology	55644	OSGEP	OMIM:617729
HP:0002683	Abnormal calvaria morphology	7204	TRIO	OMIM:618825
HP:0002683	Abnormal calvaria morphology	4337	MOCS1	OMIM:252150
HP:0002683	Abnormal calvaria morphology	51520	LARS1	OMIM:615438
HP:0002683	Abnormal calvaria morphology	4329	ALDH6A1	OMIM:614105
HP:0002683	Abnormal calvaria morphology	7040	TGFB1	ORPHA:1328
HP:0002683	Abnormal calvaria morphology	5293	PIK3CD	ORPHA:221139
HP:0002683	Abnormal calvaria morphology	90417	KNSTRN	ORPHA:221139
HP:0002683	Abnormal calvaria morphology	128178	EDARADD	OMIM:224900
HP:0002683	Abnormal calvaria morphology	10913	EDAR	OMIM:224900
HP:0002683	Abnormal calvaria morphology	60401	EDA2R	ORPHA:181
HP:0002683	Abnormal calvaria morphology	84628	NTNG2	OMIM:618718
HP:0002683	Abnormal calvaria morphology	113246	C12orf57	OMIM:218340
HP:0002683	Abnormal calvaria morphology	5495	PPM1B	ORPHA:163693
HP:0002683	Abnormal calvaria morphology	79823	CAMKMT	ORPHA:163693
HP:0002683	Abnormal calvaria morphology	5296	PIK3R2	OMIM:603387
HP:0002683	Abnormal calvaria morphology	10020	GNE	OMIM:269921
HP:0002683	Abnormal calvaria morphology	8777	MPDZ	OMIM:615219
HP:0002683	Abnormal calvaria morphology	5449	POU1F1	OMIM:613038
HP:0002683	Abnormal calvaria morphology	9757	KMT2B	OMIM:619934
HP:0002683	Abnormal calvaria morphology	2036	EPB41L1	OMIM:614257
HP:0002683	Abnormal calvaria morphology	10736	SIX2	ORPHA:488437
HP:0002683	Abnormal calvaria morphology	8398	PLA2G6	OMIM:256600
HP:0002683	Abnormal calvaria morphology	2137	EXTL3	ORPHA:508533
HP:0002683	Abnormal calvaria morphology	57539	WDR35	OMIM:613610
HP:0002683	Abnormal calvaria morphology	78989	COLEC11	OMIM:265050
HP:0002683	Abnormal calvaria morphology	89970	RSPRY1	OMIM:616723
HP:0002683	Abnormal calvaria morphology	79068	FTO	OMIM:612938
HP:0002683	Abnormal calvaria morphology	9361	LONP1	OMIM:600373
HP:0002683	Abnormal calvaria morphology	6473	SHOX	ORPHA:240
HP:0002683	Abnormal calvaria morphology	5162	PDHB	ORPHA:255138
HP:0002683	Abnormal calvaria morphology	5649	RELN	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	10300	KATNB1	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	54820	NDE1	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	6591	SNAI2	ORPHA:2884
HP:0002683	Abnormal calvaria morphology	3815	KIT	ORPHA:2884
HP:0002683	Abnormal calvaria morphology	2074	ERCC6	OMIM:133540
HP:0002683	Abnormal calvaria morphology	6424	SFRP4	OMIM:265900
HP:0002683	Abnormal calvaria morphology	8905	AP1S2	ORPHA:85335
HP:0002683	Abnormal calvaria morphology	8905	AP1S2	OMIM:304340
HP:0002683	Abnormal calvaria morphology	9842	PLEKHM1	OMIM:618107
HP:0002683	Abnormal calvaria morphology	3248	HPGD	OMIM:259100
HP:0002683	Abnormal calvaria morphology	26503	SLC17A5	OMIM:604369
HP:0002683	Abnormal calvaria morphology	4841	NONO	OMIM:300967
HP:0002683	Abnormal calvaria morphology	4841	NONO	ORPHA:466791
HP:0002683	Abnormal calvaria morphology	1855	DVL1	OMIM:616331
HP:0002683	Abnormal calvaria morphology	79639	TMEM53	OMIM:619727
HP:0002683	Abnormal calvaria morphology	2720	GLB1	ORPHA:79255
HP:0002683	Abnormal calvaria morphology	1161	ERCC8	OMIM:216400
HP:0002683	Abnormal calvaria morphology	57231	SNX14	ORPHA:397709
HP:0002683	Abnormal calvaria morphology	54808	DYM	OMIM:223800
HP:0002683	Abnormal calvaria morphology	64135	IFIH1	OMIM:182250
HP:0002683	Abnormal calvaria morphology	84295	PHF6	OMIM:301900
HP:0002683	Abnormal calvaria morphology	166929	SGMS2	OMIM:126550
HP:0002683	Abnormal calvaria morphology	23387	SIK3	OMIM:618162
HP:0002683	Abnormal calvaria morphology	4853	NOTCH2	ORPHA:955
HP:0002683	Abnormal calvaria morphology	8493	PPM1D	OMIM:617450
HP:0002683	Abnormal calvaria morphology	1387	CREBBP	OMIM:180849
HP:0002683	Abnormal calvaria morphology	2033	EP300	OMIM:180849
HP:0002683	Abnormal calvaria morphology	6223	RPS19	OMIM:105650
HP:0002683	Abnormal calvaria morphology	3192	HNRNPU	ORPHA:238769
HP:0002683	Abnormal calvaria morphology	79600	TCTN1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	79848	CSPP1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54806	AHI1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54806	AHI1	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	153241	CEP120	ORPHA:475
HP:0002683	Abnormal calvaria morphology	153241	CEP120	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	65250	CPLANE1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65250	CPLANE1	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	91147	TMEM67	ORPHA:475
HP:0002683	Abnormal calvaria morphology	91147	TMEM67	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	200894	ARL13B	ORPHA:475
HP:0002683	Abnormal calvaria morphology	9731	CEP104	ORPHA:475
HP:0002683	Abnormal calvaria morphology	219844	HYLS1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	23247	KATNIP	ORPHA:475
HP:0002683	Abnormal calvaria morphology	219854	TMEM218	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54903	MKS1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54903	MKS1	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	95681	CEP41	ORPHA:475
HP:0002683	Abnormal calvaria morphology	95681	CEP41	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	9786	KIAA0586	ORPHA:475
HP:0002683	Abnormal calvaria morphology	56623	INPP5E	ORPHA:475
HP:0002683	Abnormal calvaria morphology	56623	INPP5E	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	56623	INPP5E	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	79867	TCTN2	ORPHA:475
HP:0002683	Abnormal calvaria morphology	80776	B9D2	ORPHA:475
HP:0002683	Abnormal calvaria morphology	10464	PIBF1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	80210	ARMC9	ORPHA:475
HP:0002683	Abnormal calvaria morphology	23116	TOGARAM1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	25776	CBY1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	27077	B9D1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	403	ARL3	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	6309	SC5D	ORPHA:46059
HP:0002683	Abnormal calvaria morphology	3265	HRAS	ORPHA:2612
HP:0002683	Abnormal calvaria morphology	4893	NRAS	ORPHA:2612
HP:0002683	Abnormal calvaria morphology	9326	ZNHIT3	ORPHA:2836
HP:0002683	Abnormal calvaria morphology	547	KIF1A	ORPHA:2836
HP:0002683	Abnormal calvaria morphology	85378	TUBGCP6	ORPHA:2518
HP:0002683	Abnormal calvaria morphology	27229	TUBGCP4	ORPHA:2518
HP:0002683	Abnormal calvaria morphology	10733	PLK4	ORPHA:2518
HP:0002683	Abnormal calvaria morphology	5604	MAP2K1	ORPHA:1340
HP:0002683	Abnormal calvaria morphology	5605	MAP2K2	ORPHA:1340
HP:0002683	Abnormal calvaria morphology	79583	TMEM231	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	51524	TMEM138	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	23090	ZNF423	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	80184	CEP290	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	51259	TMEM216	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	51259	TMEM216	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	57545	CC2D2A	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	57545	CC2D2A	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	10210	TOPORS	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	9851	KIAA0753	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	26123	TCTN3	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	5147	PDE6D	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	8481	OFD1	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	317662	FAM149B1	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	374654	KIF7	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	2626	GATA4	ORPHA:251071
HP:0002683	Abnormal calvaria morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	4867	NPHP1	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	4212	MEIS2	ORPHA:261190
HP:0002683	Abnormal calvaria morphology	8450	CUL4B	ORPHA:85293
HP:0002683	Abnormal calvaria morphology	1717	DHCR7	ORPHA:818
HP:0002683	Abnormal calvaria morphology	57192	MCOLN1	ORPHA:578
HP:0002683	Abnormal calvaria morphology	5290	PIK3CA	OMIM:612918
HP:0002683	Abnormal calvaria morphology	4125	MAN2B1	ORPHA:309282
HP:0002683	Abnormal calvaria morphology	4041	LRP5	ORPHA:3416
HP:0002683	Abnormal calvaria morphology	4982	TNFRSF11B	ORPHA:2801
HP:0002683	Abnormal calvaria morphology	8792	TNFRSF11A	ORPHA:2801
HP:0002683	Abnormal calvaria morphology	9791	PTDSS1	ORPHA:2658
HP:0002683	Abnormal calvaria morphology	56172	ANKH	OMIM:123000
HP:0002683	Abnormal calvaria morphology	57187	THOC2	ORPHA:457240
HP:0002683	Abnormal calvaria morphology	3425	IDUA	OMIM:607014
HP:0002683	Abnormal calvaria morphology	760	CA2	OMIM:259730
HP:0002683	Abnormal calvaria morphology	8600	TNFSF11	OMIM:259710
HP:0002683	Abnormal calvaria morphology	2697	GJA1	ORPHA:2710
HP:0002683	Abnormal calvaria morphology	28962	OSTM1	OMIM:259720
HP:0002683	Abnormal calvaria morphology	7840	ALMS1	ORPHA:64
HP:0002683	Abnormal calvaria morphology	7840	ALMS1	OMIM:203800
HP:0002683	Abnormal calvaria morphology	2778	GNAS	ORPHA:79443
HP:0002683	Abnormal calvaria morphology	1947	EFNB1	OMIM:304110
HP:0002683	Abnormal calvaria morphology	29957	SLC25A24	ORPHA:2095
HP:0002683	Abnormal calvaria morphology	29957	SLC25A24	OMIM:612289
HP:0002683	Abnormal calvaria morphology	5034	P4HB	OMIM:112240
HP:0002683	Abnormal calvaria morphology	2961	GTF2E2	OMIM:616943
HP:0002683	Abnormal calvaria morphology	147372	CCBE1	OMIM:235510
HP:0002683	Abnormal calvaria morphology	1513	CTSK	ORPHA:763
HP:0002683	Abnormal calvaria morphology	60529	ALX4	ORPHA:228390
HP:0002683	Abnormal calvaria morphology	54928	BPNT2	OMIM:614078
HP:0002683	Abnormal calvaria morphology	5422	POLA1	ORPHA:163976
HP:0002683	Abnormal calvaria morphology	6651	SON	ORPHA:500150
HP:0002683	Abnormal calvaria morphology	6938	TCF12	OMIM:615314
HP:0002683	Abnormal calvaria morphology	1788	DNMT3A	OMIM:615879
HP:0002683	Abnormal calvaria morphology	526	ATP6V1B2	ORPHA:79500
HP:0002683	Abnormal calvaria morphology	57465	TBC1D24	ORPHA:79500
HP:0002683	Abnormal calvaria morphology	55764	IFT122	OMIM:218330
HP:0002683	Abnormal calvaria morphology	8318	CDC45	OMIM:617063
HP:0002683	Abnormal calvaria morphology	112752	IFT43	OMIM:614099
HP:0002683	Abnormal calvaria morphology	57728	WDR19	OMIM:614378
HP:0002683	Abnormal calvaria morphology	23384	SPECC1L	OMIM:145420
HP:0002683	Abnormal calvaria morphology	169792	GLIS3	OMIM:610199
HP:0002683	Abnormal calvaria morphology	3190	HNRNPK	ORPHA:453504
HP:0002683	Abnormal calvaria morphology	3190	HNRNPK	ORPHA:352665
HP:0002683	Abnormal calvaria morphology	2077	ERF	OMIM:600775
HP:0002683	Abnormal calvaria morphology	267010	RNU12	OMIM:603116
HP:0002683	Abnormal calvaria morphology	652	BMP4	OMIM:607932
HP:0002683	Abnormal calvaria morphology	9871	SEC24D	OMIM:616294
HP:0002683	Abnormal calvaria morphology	51715	RAB23	OMIM:201000
HP:0002683	Abnormal calvaria morphology	51604	PIGT	OMIM:615398
HP:0002683	Abnormal calvaria morphology	7545	ZIC1	OMIM:618736
HP:0002683	Abnormal calvaria morphology	5648	MASP1	OMIM:257920
HP:0002683	Abnormal calvaria morphology	5447	POR	OMIM:207410
HP:0002683	Abnormal calvaria morphology	7291	TWIST1	OMIM:101400
HP:0002683	Abnormal calvaria morphology	4094	MAF	OMIM:601088
HP:0002683	Abnormal calvaria morphology	53834	FGFRL1	OMIM:194190
HP:0002683	Abnormal calvaria morphology	1487	CTBP1	OMIM:194190
HP:0002683	Abnormal calvaria morphology	3954	LETM1	OMIM:194190
HP:0002683	Abnormal calvaria morphology	7468	NSD2	OMIM:194190
HP:0002683	Abnormal calvaria morphology	10815	CPLX1	OMIM:194190
HP:0002683	Abnormal calvaria morphology	5573	PRKAR1A	OMIM:101800
HP:0002683	Abnormal calvaria morphology	84701	COX4I2	OMIM:612714
HP:0002683	Abnormal calvaria morphology	3178	HNRNPA1	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	7415	VCP	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	5728	PTEN	ORPHA:744
HP:0002683	Abnormal calvaria morphology	4038	LRP4	ORPHA:3152
HP:0002683	Abnormal calvaria morphology	6197	RPS6KA3	ORPHA:192
HP:0002683	Abnormal calvaria morphology	4854	NOTCH3	ORPHA:2789
HP:0002683	Abnormal calvaria morphology	126792	B3GALT6	ORPHA:2725
HP:0002683	Abnormal calvaria morphology	10312	TCIRG1	ORPHA:1782
HP:0002683	Abnormal calvaria morphology	55315	SLC29A3	ORPHA:1782
HP:0002683	Abnormal calvaria morphology	2316	FLNA	ORPHA:2484
HP:0002683	Abnormal calvaria morphology	4089	SMAD4	ORPHA:2588
HP:0002683	Abnormal calvaria morphology	2068	ERCC2	ORPHA:910
HP:0002683	Abnormal calvaria morphology	7507	XPA	ORPHA:910
HP:0002683	Abnormal calvaria morphology	2071	ERCC3	ORPHA:910
HP:0002683	Abnormal calvaria morphology	7508	XPC	ORPHA:910
HP:0002683	Abnormal calvaria morphology	1643	DDB2	ORPHA:910
HP:0002683	Abnormal calvaria morphology	2072	ERCC4	ORPHA:910
HP:0002683	Abnormal calvaria morphology	2073	ERCC5	ORPHA:910
HP:0002683	Abnormal calvaria morphology	207	AKT1	OMIM:176920
HP:0002683	Abnormal calvaria morphology	4524	MTHFR	ORPHA:563612
HP:0002683	Abnormal calvaria morphology	57216	VANGL2	ORPHA:563612
HP:0002683	Abnormal calvaria morphology	8092	ALX1	ORPHA:306542
HP:0002683	Abnormal calvaria morphology	11253	MAN1B1	ORPHA:397941
HP:0002683	Abnormal calvaria morphology	11253	MAN1B1	OMIM:614202
HP:0002683	Abnormal calvaria morphology	142680	SLC34A3	OMIM:241530
HP:0002683	Abnormal calvaria morphology	1594	CYP27B1	ORPHA:289157
HP:0002683	Abnormal calvaria morphology	1594	CYP27B1	OMIM:264700
HP:0002683	Abnormal calvaria morphology	120227	CYP2R1	ORPHA:289157
HP:0002683	Abnormal calvaria morphology	120227	CYP2R1	OMIM:600081
HP:0002683	Abnormal calvaria morphology	51633	OTUD6B	OMIM:617452
HP:0002683	Abnormal calvaria morphology	51633	OTUD6B	ORPHA:505237
HP:0002683	Abnormal calvaria morphology	6228	RPS23	OMIM:617412
HP:0002683	Abnormal calvaria morphology	23314	SATB2	ORPHA:251028
HP:0002683	Abnormal calvaria morphology	3098	HK1	OMIM:618547
HP:0002683	Abnormal calvaria morphology	84942	WDR73	OMIM:251300
HP:0002683	Abnormal calvaria morphology	79813	EHMT1	ORPHA:96147
HP:0002683	Abnormal calvaria morphology	23345	SYNE1	ORPHA:319332
HP:0002683	Abnormal calvaria morphology	6638	SNRPN	OMIM:105830
HP:0002683	Abnormal calvaria morphology	6638	SNRPN	ORPHA:177907
HP:0002683	Abnormal calvaria morphology	7337	UBE3A	OMIM:105830
HP:0002683	Abnormal calvaria morphology	7337	UBE3A	ORPHA:98794
HP:0002683	Abnormal calvaria morphology	7337	UBE3A	ORPHA:411511
HP:0002683	Abnormal calvaria morphology	6872	TAF1	OMIM:300966
HP:0002683	Abnormal calvaria morphology	285590	SH3PXD2B	OMIM:249420
HP:0002683	Abnormal calvaria morphology	253959	RALGAPA1	OMIM:618797
HP:0002683	Abnormal calvaria morphology	23067	SETD1B	OMIM:619000
HP:0002683	Abnormal calvaria morphology	51506	UFC1	OMIM:618076
HP:0002683	Abnormal calvaria morphology	55784	MCTP2	ORPHA:1596
HP:0002683	Abnormal calvaria morphology	55670	PEX26	OMIM:614872
HP:0002683	Abnormal calvaria morphology	55670	PEX26	ORPHA:912
HP:0002683	Abnormal calvaria morphology	4952	OCRL	ORPHA:534
HP:0002683	Abnormal calvaria morphology	158	ADSL	ORPHA:46
HP:0002683	Abnormal calvaria morphology	4948	OCA2	ORPHA:98794
HP:0002683	Abnormal calvaria morphology	10559	SLC35A1	OMIM:603585
HP:0002683	Abnormal calvaria morphology	259266	ASPM	OMIM:608716
HP:0002683	Abnormal calvaria morphology	10381	TUBB3	ORPHA:300570
HP:0002683	Abnormal calvaria morphology	2146	EZH2	OMIM:277590
HP:0002683	Abnormal calvaria morphology	5195	PEX14	OMIM:614887
HP:0002683	Abnormal calvaria morphology	5195	PEX14	ORPHA:912
HP:0002683	Abnormal calvaria morphology	23592	LEMD3	ORPHA:1306
HP:0002683	Abnormal calvaria morphology	8604	SLC25A12	OMIM:612949
HP:0002683	Abnormal calvaria morphology	129285	PPP1R21	OMIM:619383
HP:0002683	Abnormal calvaria morphology	54968	TMEM70	OMIM:614052
HP:0002683	Abnormal calvaria morphology	3832	KIF11	OMIM:152950
HP:0002683	Abnormal calvaria morphology	7421	VDR	OMIM:277440
HP:0002683	Abnormal calvaria morphology	3636	INPPL1	ORPHA:2746
HP:0002683	Abnormal calvaria morphology	124512	METTL23	OMIM:615942
HP:0002683	Abnormal calvaria morphology	89910	UBE3B	ORPHA:2707
HP:0002683	Abnormal calvaria morphology	139285	AMER1	ORPHA:2780
HP:0002683	Abnormal calvaria morphology	5824	PEX19	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5828	PEX2	ORPHA:912
HP:0002683	Abnormal calvaria morphology	8504	PEX3	ORPHA:912
HP:0002683	Abnormal calvaria morphology	8799	PEX11B	ORPHA:912
HP:0002683	Abnormal calvaria morphology	9409	PEX16	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5190	PEX6	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5830	PEX5	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5193	PEX12	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5194	PEX13	ORPHA:912
HP:0002683	Abnormal calvaria morphology	5192	PEX10	ORPHA:912
HP:0002683	Abnormal calvaria morphology	249	ALPL	OMIM:241500
HP:0002683	Abnormal calvaria morphology	10491	CRTAP	OMIM:610682
HP:0002683	Abnormal calvaria morphology	90993	CREB3L1	OMIM:616229
HP:0002683	Abnormal calvaria morphology	79770	TXNDC15	OMIM:619879
HP:0002683	Abnormal calvaria morphology	7476	WNT7A	OMIM:276820
HP:0002683	Abnormal calvaria morphology	5479	PPIB	OMIM:259440
HP:0002683	Abnormal calvaria morphology	871	SERPINH1	OMIM:613848
HP:0002683	Abnormal calvaria morphology	10269	ZMPSTE24	OMIM:275210
HP:0002683	Abnormal calvaria morphology	3911	LAMA5	OMIM:620076
HP:0002683	Abnormal calvaria morphology	64175	P3H1	OMIM:610915
HP:0002683	Abnormal calvaria morphology	1277	COL1A1	OMIM:166210
HP:0002683	Abnormal calvaria morphology	1278	COL1A2	OMIM:166210
HP:0002683	Abnormal calvaria morphology	23516	SLC39A14	OMIM:144755
HP:0002683	Abnormal calvaria morphology	6916	TBXAS1	OMIM:231095
HP:0002683	Abnormal calvaria morphology	50964	SOST	OMIM:269500
HP:0002683	Abnormal calvaria morphology	5159	PDGFRB	OMIM:601812
HP:0002683	Abnormal calvaria morphology	9839	ZEB2	ORPHA:261537
HP:0002683	Abnormal calvaria morphology	9839	ZEB2	ORPHA:261552
HP:0002683	Abnormal calvaria morphology	222663	SCUBE3	OMIM:619184
HP:0002683	Abnormal calvaria morphology	8294	H4C9	OMIM:619951
HP:0002683	Abnormal calvaria morphology	6608	SMO	OMIM:601707
HP:0002683	Abnormal calvaria morphology	1312	COMT	ORPHA:567
HP:0002683	Abnormal calvaria morphology	221037	JMJD1C	ORPHA:567
HP:0002683	Abnormal calvaria morphology	2812	GP1BB	ORPHA:567
HP:0002683	Abnormal calvaria morphology	6239	RREB1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	6899	TBX1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	7290	HIRA	ORPHA:567
HP:0002683	Abnormal calvaria morphology	9632	SEC24C	ORPHA:567
HP:0002683	Abnormal calvaria morphology	7353	UFD1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	421	ARVCF	ORPHA:567
HP:0002683	Abnormal calvaria morphology	84720	PIGO	OMIM:614749
HP:0002683	Abnormal calvaria morphology	815	CAMK2A	OMIM:617798
HP:0002683	Abnormal calvaria morphology	2890	GRIA1	OMIM:619927
HP:0002683	Abnormal calvaria morphology	781	CACNA2D1	OMIM:620149
HP:0002683	Abnormal calvaria morphology	9578	CDC42BPB	OMIM:619841
HP:0002683	Abnormal calvaria morphology	79087	ALG12	ORPHA:79324
HP:0002683	Abnormal calvaria morphology	55697	VAC14	ORPHA:3472
HP:0002683	Abnormal calvaria morphology	25914	RTTN	ORPHA:468631
HP:0002683	Abnormal calvaria morphology	1747	DLX3	ORPHA:3352
HP:0002683	Abnormal calvaria morphology	4659	PPP1R12A	OMIM:618820
HP:0002683	Abnormal calvaria morphology	56992	KIF15	ORPHA:261323
HP:0002683	Abnormal calvaria morphology	199857	ALG14	OMIM:619036
HP:0002683	Abnormal calvaria morphology	51256	TBC1D7	OMIM:248000
HP:0002683	Abnormal calvaria morphology	3423	IDS	OMIM:309900
HP:0002683	Abnormal calvaria morphology	1272	CNTN1	OMIM:612540
HP:0002683	Abnormal calvaria morphology	3572	IL6ST	OMIM:618523
HP:0002683	Abnormal calvaria morphology	11133	KPTN	OMIM:615637
HP:0002683	Abnormal calvaria morphology	11133	KPTN	ORPHA:397612
HP:0002683	Abnormal calvaria morphology	55681	SCYL2	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	84570	COL25A1	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	57222	ERGIC1	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	5557	PRIM1	OMIM:620005
HP:0002683	Abnormal calvaria morphology	3295	HSD17B4	OMIM:261515
HP:0002683	Abnormal calvaria morphology	4784	NFIX	ORPHA:420179
HP:0002683	Abnormal calvaria morphology	6261	RYR1	OMIM:619542
HP:0002683	Abnormal calvaria morphology	55553	SOX6	OMIM:618971
HP:0002683	Abnormal calvaria morphology	372	ARCN1	OMIM:617164
HP:0002683	Abnormal calvaria morphology	91179	SCARF2	OMIM:600920
HP:0002683	Abnormal calvaria morphology	27161	AGO2	OMIM:619149
HP:0002683	Abnormal calvaria morphology	10293	TRAIP	OMIM:616777
HP:0002683	Abnormal calvaria morphology	23545	ATP6V0A2	OMIM:278250
HP:0002683	Abnormal calvaria morphology	55753	OGDHL	OMIM:619701
HP:0002683	Abnormal calvaria morphology	55623	THUMPD1	OMIM:619989
HP:0002683	Abnormal calvaria morphology	3762	KCNJ5	ORPHA:37553
HP:0002683	Abnormal calvaria morphology	3759	KCNJ2	ORPHA:37553
HP:0002683	Abnormal calvaria morphology	4330	MN1	OMIM:618774
HP:0002683	Abnormal calvaria morphology	4052	LTBP1	OMIM:619451
HP:0002683	Abnormal calvaria morphology	1499	CTNNB1	ORPHA:54595
HP:0002683	Abnormal calvaria morphology	673	BRAF	ORPHA:54595
HP:0005616	Accelerated skeletal maturation	7227	TRPS1	OMIM:190350
HP:0005616	Accelerated skeletal maturation	7227	TRPS1	OMIM:190351
HP:0005616	Accelerated skeletal maturation	5573	PRKAR1A	ORPHA:950
HP:0005616	Accelerated skeletal maturation	5573	PRKAR1A	ORPHA:280651
HP:0005616	Accelerated skeletal maturation	5573	PRKAR1A	OMIM:101800
HP:0005616	Accelerated skeletal maturation	5144	PDE4D	ORPHA:950
HP:0005616	Accelerated skeletal maturation	5144	PDE4D	ORPHA:280651
HP:0005616	Accelerated skeletal maturation	5144	PDE4D	ORPHA:439822
HP:0005616	Accelerated skeletal maturation	7840	ALMS1	ORPHA:64
HP:0005616	Accelerated skeletal maturation	7840	ALMS1	OMIM:203800
HP:0005616	Accelerated skeletal maturation	11285	B4GALT7	OMIM:130070
HP:0005616	Accelerated skeletal maturation	4158	MC2R	OMIM:202200
HP:0005616	Accelerated skeletal maturation	23512	SUZ12	OMIM:618786
HP:0005616	Accelerated skeletal maturation	23512	SUZ12	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	26580	BSCL2	OMIM:269700
HP:0005616	Accelerated skeletal maturation	26580	BSCL2	ORPHA:528
HP:0005616	Accelerated skeletal maturation	2879	GPX4	ORPHA:93317
HP:0005616	Accelerated skeletal maturation	2737	GLI3	OMIM:175700
HP:0005616	Accelerated skeletal maturation	2737	GLI3	ORPHA:380
HP:0005616	Accelerated skeletal maturation	3290	HSD11B1	OMIM:614662
HP:0005616	Accelerated skeletal maturation	84282	RNF135	ORPHA:137634
HP:0005616	Accelerated skeletal maturation	3643	INSR	ORPHA:2297
HP:0005616	Accelerated skeletal maturation	5593	PRKG2	OMIM:619636
HP:0005616	Accelerated skeletal maturation	3008	H1-4	OMIM:617537
HP:0005616	Accelerated skeletal maturation	1650	DDOST	OMIM:614507
HP:0005616	Accelerated skeletal maturation	1650	DDOST	ORPHA:300536
HP:0005616	Accelerated skeletal maturation	3636	INPPL1	ORPHA:3144
HP:0005616	Accelerated skeletal maturation	23169	SLC35D1	ORPHA:3144
HP:0005616	Accelerated skeletal maturation	4784	NFIX	ORPHA:420179
HP:0005616	Accelerated skeletal maturation	4784	NFIX	OMIM:614753
HP:0005616	Accelerated skeletal maturation	4784	NFIX	OMIM:602535
HP:0005616	Accelerated skeletal maturation	4784	NFIX	ORPHA:561
HP:0005616	Accelerated skeletal maturation	7253	TSHR	ORPHA:424
HP:0005616	Accelerated skeletal maturation	7253	TSHR	OMIM:609152
HP:0005616	Accelerated skeletal maturation	5745	PTH1R	OMIM:215045
HP:0005616	Accelerated skeletal maturation	5745	PTH1R	ORPHA:50945
HP:0005616	Accelerated skeletal maturation	64324	NSD1	ORPHA:821
HP:0005616	Accelerated skeletal maturation	64324	NSD1	OMIM:117550
HP:0005616	Accelerated skeletal maturation	64324	NSD1	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	29072	SETD2	ORPHA:821
HP:0005616	Accelerated skeletal maturation	10297	APC2	ORPHA:821
HP:0005616	Accelerated skeletal maturation	6595	SMARCA2	ORPHA:3051
HP:0005616	Accelerated skeletal maturation	1584	CYP11B1	OMIM:202010
HP:0005616	Accelerated skeletal maturation	1584	CYP11B1	ORPHA:90795
HP:0005616	Accelerated skeletal maturation	55790	CSGALNACT1	OMIM:618870
HP:0005616	Accelerated skeletal maturation	55790	CSGALNACT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	6942	TCF20	OMIM:618430
HP:0005616	Accelerated skeletal maturation	1836	SLC26A2	ORPHA:93307
HP:0005616	Accelerated skeletal maturation	200424	TET3	OMIM:618798
HP:0005616	Accelerated skeletal maturation	3952	LEP	ORPHA:66628
HP:0005616	Accelerated skeletal maturation	4221	MEN1	ORPHA:99725
HP:0005616	Accelerated skeletal maturation	9049	AIP	ORPHA:99725
HP:0005616	Accelerated skeletal maturation	3764	KCNJ8	ORPHA:1517
HP:0005616	Accelerated skeletal maturation	10060	ABCC9	ORPHA:1517
HP:0005616	Accelerated skeletal maturation	4297	KMT2A	OMIM:605130
HP:0005616	Accelerated skeletal maturation	4297	KMT2A	ORPHA:319182
HP:0005616	Accelerated skeletal maturation	55252	ASXL2	OMIM:617190
HP:0005616	Accelerated skeletal maturation	2239	GPC4	ORPHA:373
HP:0005616	Accelerated skeletal maturation	2239	GPC4	OMIM:312870
HP:0005616	Accelerated skeletal maturation	2719	GPC3	ORPHA:373
HP:0005616	Accelerated skeletal maturation	2719	GPC3	OMIM:312870
HP:0005616	Accelerated skeletal maturation	6023	RMRP	ORPHA:175
HP:0005616	Accelerated skeletal maturation	1588	CYP19A1	OMIM:139300
HP:0005616	Accelerated skeletal maturation	1028	CDKN1C	OMIM:130650
HP:0005616	Accelerated skeletal maturation	10984	KCNQ1OT1	OMIM:130650
HP:0005616	Accelerated skeletal maturation	3481	IGF2	OMIM:130650
HP:0005616	Accelerated skeletal maturation	3784	KCNQ1	OMIM:130650
HP:0005616	Accelerated skeletal maturation	84068	SLC10A7	OMIM:618363
HP:0005616	Accelerated skeletal maturation	85358	SHANK3	ORPHA:48652
HP:0005616	Accelerated skeletal maturation	2146	EZH2	OMIM:277590
HP:0005616	Accelerated skeletal maturation	2146	EZH2	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	3973	LHCGR	ORPHA:3000
HP:0005616	Accelerated skeletal maturation	5468	PPARG	ORPHA:528
HP:0005616	Accelerated skeletal maturation	10555	AGPAT2	ORPHA:528
HP:0005616	Accelerated skeletal maturation	10555	AGPAT2	OMIM:608594
HP:0005616	Accelerated skeletal maturation	284119	CAVIN1	ORPHA:528
HP:0005616	Accelerated skeletal maturation	284119	CAVIN1	OMIM:613327
HP:0005616	Accelerated skeletal maturation	2353	FOS	ORPHA:528
HP:0005616	Accelerated skeletal maturation	857	CAV1	ORPHA:528
HP:0005616	Accelerated skeletal maturation	64131	XYLT1	ORPHA:370930
HP:0005616	Accelerated skeletal maturation	64131	XYLT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	124583	CANT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	176	ACAN	OMIM:165800
HP:0005616	Accelerated skeletal maturation	8726	EED	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	8726	EED	OMIM:617561
HP:0005616	Accelerated skeletal maturation	5727	PTCH1	ORPHA:77301
HP:0005616	Accelerated skeletal maturation	2778	GNAS	ORPHA:562
HP:0005616	Accelerated skeletal maturation	9469	CHST3	OMIM:245600
HP:0005616	Accelerated skeletal maturation	26229	B3GAT3	OMIM:245600
HP:0005616	Accelerated skeletal maturation	372	ARCN1	OMIM:617164
HP:0005616	Accelerated skeletal maturation	1656	DDX6	OMIM:618653
HP:0005616	Accelerated skeletal maturation	83550	GPR101	OMIM:300942
HP:0005616	Accelerated skeletal maturation	7681	MKRN3	OMIM:615346
HP:0005616	Accelerated skeletal maturation	3953	LEPR	ORPHA:179494
HP:0012860	Testicular fibrosis	7840	ALMS1	ORPHA:64
HP:0012862	Abnormal germ cell morphology	84660	CCDC62	OMIM:619803
HP:0012862	Abnormal germ cell morphology	199720	GGN	OMIM:619826
HP:0012862	Abnormal germ cell morphology	151254	C2CD6	OMIM:619805
HP:0012862	Abnormal germ cell morphology	11055	ZPBP	OMIM:619799
HP:0012862	Abnormal germ cell morphology	283417	DPY19L2	OMIM:613958
HP:0012862	Abnormal germ cell morphology	317719	KLHL10	OMIM:615081
HP:0012862	Abnormal germ cell morphology	124404	SEPTIN12	OMIM:614822
HP:0012862	Abnormal germ cell morphology	57704	GBA2	ORPHA:320391
HP:0012862	Abnormal germ cell morphology	55012	PPP2R3C	OMIM:618420
HP:0012862	Abnormal germ cell morphology	2488	FSHB	ORPHA:52901
HP:0012862	Abnormal germ cell morphology	8556	CDC14A	OMIM:608653
HP:0012862	Abnormal germ cell morphology	286151	FBXO43	OMIM:619696
HP:0012862	Abnormal germ cell morphology	144132	DNHD1	OMIM:619712
HP:0012862	Abnormal germ cell morphology	140732	SUN5	ORPHA:529970
HP:0012862	Abnormal germ cell morphology	83449	PMFBP1	ORPHA:529970
HP:0012862	Abnormal germ cell morphology	340719	NANOS1	ORPHA:399808
HP:0012862	Abnormal germ cell morphology	117155	CATSPER2	OMIM:611102
HP:0012862	Abnormal germ cell morphology	161497	STRC	OMIM:611102
HP:0012862	Abnormal germ cell morphology	676	BRDT	OMIM:617644
HP:0012862	Abnormal germ cell morphology	80705	TSGA10	OMIM:617961
HP:0012862	Abnormal germ cell morphology	201134	CEP112	OMIM:619044
HP:0012862	Abnormal germ cell morphology	83893	SPATA16	OMIM:102530
HP:0012862	Abnormal germ cell morphology	146754	DNAH2	OMIM:619094
HP:0012862	Abnormal germ cell morphology	91057	CCDC34	OMIM:620084
HP:0012862	Abnormal germ cell morphology	1769	DNAH8	OMIM:619095
HP:0012862	Abnormal germ cell morphology	286464	CFAP47	OMIM:301059
HP:0012862	Abnormal germ cell morphology	22873	DZIP1	OMIM:619102
HP:0012862	Abnormal germ cell morphology	55779	CFAP44	OMIM:617593
HP:0012862	Abnormal germ cell morphology	80217	CFAP43	OMIM:617592
HP:0012862	Abnormal germ cell morphology	255101	CFAP65	OMIM:618664
HP:0012862	Abnormal germ cell morphology	84071	ARMC2	OMIM:618433
HP:0012862	Abnormal germ cell morphology	8632	DNAH17	OMIM:618643
HP:0012862	Abnormal germ cell morphology	25981	DNAH1	OMIM:617576
HP:0012862	Abnormal germ cell morphology	144406	CFAP251	OMIM:618152
HP:0012862	Abnormal germ cell morphology	159686	CFAP58	OMIM:619144
HP:0012862	Abnormal germ cell morphology	199223	TTC21A	OMIM:618429
HP:0012862	Abnormal germ cell morphology	196385	DNAH10	OMIM:619515
HP:0012862	Abnormal germ cell morphology	83894	TTC29	OMIM:618745
HP:0012862	Abnormal germ cell morphology	92749	DRC1	OMIM:620222
HP:0012862	Abnormal germ cell morphology	79846	CFAP69	OMIM:617959
HP:0012862	Abnormal germ cell morphology	118491	CFAP70	OMIM:618670
HP:0012862	Abnormal germ cell morphology	80173	IFT74	OMIM:619585
HP:0012862	Abnormal germ cell morphology	85452	CFAP74	OMIM:620197
HP:0012862	Abnormal germ cell morphology	157855	KCNU1	OMIM:620196
HP:0012862	Abnormal germ cell morphology	80726	IQCN	OMIM:620170
HP:0012862	Abnormal germ cell morphology	284382	ACTL9	OMIM:619258
HP:0012862	Abnormal germ cell morphology	375307	CATIP	OMIM:619379
HP:0012862	Abnormal germ cell morphology	122481	AK7	OMIM:617965
HP:0012862	Abnormal germ cell morphology	57728	WDR19	OMIM:619867
HP:0012862	Abnormal germ cell morphology	79925	SPEF2	OMIM:618751
HP:0012862	Abnormal germ cell morphology	401024	FSIP2	OMIM:618153
HP:0012862	Abnormal germ cell morphology	89876	CFAP91	OMIM:619177
HP:0012862	Abnormal germ cell morphology	84074	QRICH2	OMIM:618341
HP:0012862	Abnormal germ cell morphology	6795	AURKC	OMIM:243060
HP:0012862	Abnormal germ cell morphology	8468	FKBP6	OMIM:620103
HP:0012863	Abnormal male germ cell morphology	84660	CCDC62	OMIM:619803
HP:0012863	Abnormal male germ cell morphology	199720	GGN	OMIM:619826
HP:0012863	Abnormal male germ cell morphology	151254	C2CD6	OMIM:619805
HP:0012863	Abnormal male germ cell morphology	11055	ZPBP	OMIM:619799
HP:0012863	Abnormal male germ cell morphology	283417	DPY19L2	OMIM:613958
HP:0012863	Abnormal male germ cell morphology	317719	KLHL10	OMIM:615081
HP:0012863	Abnormal male germ cell morphology	124404	SEPTIN12	OMIM:614822
HP:0012863	Abnormal male germ cell morphology	57704	GBA2	ORPHA:320391
HP:0012863	Abnormal male germ cell morphology	55012	PPP2R3C	OMIM:618420
HP:0012863	Abnormal male germ cell morphology	2488	FSHB	ORPHA:52901
HP:0012863	Abnormal male germ cell morphology	8556	CDC14A	OMIM:608653
HP:0012863	Abnormal male germ cell morphology	286151	FBXO43	OMIM:619696
HP:0012863	Abnormal male germ cell morphology	144132	DNHD1	OMIM:619712
HP:0012863	Abnormal male germ cell morphology	140732	SUN5	ORPHA:529970
HP:0012863	Abnormal male germ cell morphology	83449	PMFBP1	ORPHA:529970
HP:0012863	Abnormal male germ cell morphology	340719	NANOS1	ORPHA:399808
HP:0012863	Abnormal male germ cell morphology	117155	CATSPER2	OMIM:611102
HP:0012863	Abnormal male germ cell morphology	161497	STRC	OMIM:611102
HP:0012863	Abnormal male germ cell morphology	676	BRDT	OMIM:617644
HP:0012863	Abnormal male germ cell morphology	80705	TSGA10	OMIM:617961
HP:0012863	Abnormal male germ cell morphology	201134	CEP112	OMIM:619044
HP:0012863	Abnormal male germ cell morphology	83893	SPATA16	OMIM:102530
HP:0012863	Abnormal male germ cell morphology	146754	DNAH2	OMIM:619094
HP:0012863	Abnormal male germ cell morphology	91057	CCDC34	OMIM:620084
HP:0012863	Abnormal male germ cell morphology	1769	DNAH8	OMIM:619095
HP:0012863	Abnormal male germ cell morphology	286464	CFAP47	OMIM:301059
HP:0012863	Abnormal male germ cell morphology	22873	DZIP1	OMIM:619102
HP:0012863	Abnormal male germ cell morphology	55779	CFAP44	OMIM:617593
HP:0012863	Abnormal male germ cell morphology	80217	CFAP43	OMIM:617592
HP:0012863	Abnormal male germ cell morphology	255101	CFAP65	OMIM:618664
HP:0012863	Abnormal male germ cell morphology	84071	ARMC2	OMIM:618433
HP:0012863	Abnormal male germ cell morphology	8632	DNAH17	OMIM:618643
HP:0012863	Abnormal male germ cell morphology	25981	DNAH1	OMIM:617576
HP:0012863	Abnormal male germ cell morphology	144406	CFAP251	OMIM:618152
HP:0012863	Abnormal male germ cell morphology	159686	CFAP58	OMIM:619144
HP:0012863	Abnormal male germ cell morphology	199223	TTC21A	OMIM:618429
HP:0012863	Abnormal male germ cell morphology	196385	DNAH10	OMIM:619515
HP:0012863	Abnormal male germ cell morphology	83894	TTC29	OMIM:618745
HP:0012863	Abnormal male germ cell morphology	92749	DRC1	OMIM:620222
HP:0012863	Abnormal male germ cell morphology	79846	CFAP69	OMIM:617959
HP:0012863	Abnormal male germ cell morphology	118491	CFAP70	OMIM:618670
HP:0012863	Abnormal male germ cell morphology	80173	IFT74	OMIM:619585
HP:0012863	Abnormal male germ cell morphology	85452	CFAP74	OMIM:620197
HP:0012863	Abnormal male germ cell morphology	157855	KCNU1	OMIM:620196
HP:0012863	Abnormal male germ cell morphology	80726	IQCN	OMIM:620170
HP:0012863	Abnormal male germ cell morphology	284382	ACTL9	OMIM:619258
HP:0012863	Abnormal male germ cell morphology	375307	CATIP	OMIM:619379
HP:0012863	Abnormal male germ cell morphology	122481	AK7	OMIM:617965
HP:0012863	Abnormal male germ cell morphology	57728	WDR19	OMIM:619867
HP:0012863	Abnormal male germ cell morphology	79925	SPEF2	OMIM:618751
HP:0012863	Abnormal male germ cell morphology	401024	FSIP2	OMIM:618153
HP:0012863	Abnormal male germ cell morphology	89876	CFAP91	OMIM:619177
HP:0012863	Abnormal male germ cell morphology	84074	QRICH2	OMIM:618341
HP:0012863	Abnormal male germ cell morphology	6795	AURKC	OMIM:243060
HP:0012863	Abnormal male germ cell morphology	8468	FKBP6	OMIM:620103
HP:0012864	Abnormal sperm morphology	84660	CCDC62	OMIM:619803
HP:0012864	Abnormal sperm morphology	199720	GGN	OMIM:619826
HP:0012864	Abnormal sperm morphology	151254	C2CD6	OMIM:619805
HP:0012864	Abnormal sperm morphology	11055	ZPBP	OMIM:619799
HP:0012864	Abnormal sperm morphology	283417	DPY19L2	OMIM:613958
HP:0012864	Abnormal sperm morphology	317719	KLHL10	OMIM:615081
HP:0012864	Abnormal sperm morphology	124404	SEPTIN12	OMIM:614822
HP:0012864	Abnormal sperm morphology	57704	GBA2	ORPHA:320391
HP:0012864	Abnormal sperm morphology	55012	PPP2R3C	OMIM:618420
HP:0012864	Abnormal sperm morphology	2488	FSHB	ORPHA:52901
HP:0012864	Abnormal sperm morphology	8556	CDC14A	OMIM:608653
HP:0012864	Abnormal sperm morphology	286151	FBXO43	OMIM:619696
HP:0012864	Abnormal sperm morphology	144132	DNHD1	OMIM:619712
HP:0012864	Abnormal sperm morphology	140732	SUN5	ORPHA:529970
HP:0012864	Abnormal sperm morphology	83449	PMFBP1	ORPHA:529970
HP:0012864	Abnormal sperm morphology	340719	NANOS1	ORPHA:399808
HP:0012864	Abnormal sperm morphology	117155	CATSPER2	OMIM:611102
HP:0012864	Abnormal sperm morphology	161497	STRC	OMIM:611102
HP:0012864	Abnormal sperm morphology	676	BRDT	OMIM:617644
HP:0012864	Abnormal sperm morphology	80705	TSGA10	OMIM:617961
HP:0012864	Abnormal sperm morphology	201134	CEP112	OMIM:619044
HP:0012864	Abnormal sperm morphology	83893	SPATA16	OMIM:102530
HP:0012864	Abnormal sperm morphology	146754	DNAH2	OMIM:619094
HP:0012864	Abnormal sperm morphology	91057	CCDC34	OMIM:620084
HP:0012864	Abnormal sperm morphology	1769	DNAH8	OMIM:619095
HP:0012864	Abnormal sperm morphology	286464	CFAP47	OMIM:301059
HP:0012864	Abnormal sperm morphology	22873	DZIP1	OMIM:619102
HP:0012864	Abnormal sperm morphology	55779	CFAP44	OMIM:617593
HP:0012864	Abnormal sperm morphology	80217	CFAP43	OMIM:617592
HP:0012864	Abnormal sperm morphology	255101	CFAP65	OMIM:618664
HP:0012864	Abnormal sperm morphology	84071	ARMC2	OMIM:618433
HP:0012864	Abnormal sperm morphology	8632	DNAH17	OMIM:618643
HP:0012864	Abnormal sperm morphology	25981	DNAH1	OMIM:617576
HP:0012864	Abnormal sperm morphology	144406	CFAP251	OMIM:618152
HP:0012864	Abnormal sperm morphology	159686	CFAP58	OMIM:619144
HP:0012864	Abnormal sperm morphology	199223	TTC21A	OMIM:618429
HP:0012864	Abnormal sperm morphology	196385	DNAH10	OMIM:619515
HP:0012864	Abnormal sperm morphology	83894	TTC29	OMIM:618745
HP:0012864	Abnormal sperm morphology	92749	DRC1	OMIM:620222
HP:0012864	Abnormal sperm morphology	79846	CFAP69	OMIM:617959
HP:0012864	Abnormal sperm morphology	118491	CFAP70	OMIM:618670
HP:0012864	Abnormal sperm morphology	80173	IFT74	OMIM:619585
HP:0012864	Abnormal sperm morphology	85452	CFAP74	OMIM:620197
HP:0012864	Abnormal sperm morphology	157855	KCNU1	OMIM:620196
HP:0012864	Abnormal sperm morphology	80726	IQCN	OMIM:620170
HP:0012864	Abnormal sperm morphology	284382	ACTL9	OMIM:619258
HP:0012864	Abnormal sperm morphology	375307	CATIP	OMIM:619379
HP:0012864	Abnormal sperm morphology	122481	AK7	OMIM:617965
HP:0012864	Abnormal sperm morphology	57728	WDR19	OMIM:619867
HP:0012864	Abnormal sperm morphology	79925	SPEF2	OMIM:618751
HP:0012864	Abnormal sperm morphology	401024	FSIP2	OMIM:618153
HP:0012864	Abnormal sperm morphology	89876	CFAP91	OMIM:619177
HP:0012864	Abnormal sperm morphology	84074	QRICH2	OMIM:618341
HP:0012864	Abnormal sperm morphology	6795	AURKC	OMIM:243060
HP:0012864	Abnormal sperm morphology	8468	FKBP6	OMIM:620103
HP:0012865	Abnormal sperm head morphology	340719	NANOS1	ORPHA:399808
HP:0012865	Abnormal sperm head morphology	84660	CCDC62	OMIM:619803
HP:0012865	Abnormal sperm head morphology	199720	GGN	OMIM:619826
HP:0012865	Abnormal sperm head morphology	151254	C2CD6	OMIM:619805
HP:0012865	Abnormal sperm head morphology	11055	ZPBP	OMIM:619799
HP:0012865	Abnormal sperm head morphology	283417	DPY19L2	OMIM:613958
HP:0012865	Abnormal sperm head morphology	117155	CATSPER2	OMIM:611102
HP:0012865	Abnormal sperm head morphology	161497	STRC	OMIM:611102
HP:0012865	Abnormal sperm head morphology	57704	GBA2	ORPHA:320391
HP:0012865	Abnormal sperm head morphology	286151	FBXO43	OMIM:619696
HP:0012865	Abnormal sperm head morphology	676	BRDT	OMIM:617644
HP:0012865	Abnormal sperm head morphology	83449	PMFBP1	OMIM:618112
HP:0012865	Abnormal sperm head morphology	83449	PMFBP1	ORPHA:529970
HP:0012865	Abnormal sperm head morphology	140732	SUN5	OMIM:617187
HP:0012865	Abnormal sperm head morphology	140732	SUN5	ORPHA:529970
HP:0012865	Abnormal sperm head morphology	80705	TSGA10	OMIM:617961
HP:0012865	Abnormal sperm head morphology	201134	CEP112	OMIM:619044
HP:0012865	Abnormal sperm head morphology	6795	AURKC	OMIM:243060
HP:0012865	Abnormal sperm head morphology	83893	SPATA16	OMIM:102530
HP:0012865	Abnormal sperm head morphology	80726	IQCN	OMIM:620170
HP:0012865	Abnormal sperm head morphology	83894	TTC29	OMIM:618745
HP:0012865	Abnormal sperm head morphology	79846	CFAP69	OMIM:617959
HP:0012865	Abnormal sperm head morphology	89876	CFAP91	OMIM:619177
HP:0012865	Abnormal sperm head morphology	284382	ACTL9	OMIM:619258
HP:0012865	Abnormal sperm head morphology	375307	CATIP	OMIM:619379
HP:0012865	Abnormal sperm head morphology	84071	ARMC2	OMIM:618433
HP:0012865	Abnormal sperm head morphology	8632	DNAH17	OMIM:618643
HP:0012865	Abnormal sperm head morphology	118491	CFAP70	OMIM:618670
HP:0012867	Abnormal sperm mid-piece morphology	144132	DNHD1	OMIM:619712
HP:0012867	Abnormal sperm mid-piece morphology	140732	SUN5	ORPHA:529970
HP:0012867	Abnormal sperm mid-piece morphology	83449	PMFBP1	ORPHA:529970
HP:0012868	Abnormal sperm tail morphology	340719	NANOS1	ORPHA:399808
HP:0012868	Abnormal sperm tail morphology	117155	CATSPER2	OMIM:611102
HP:0012868	Abnormal sperm tail morphology	161497	STRC	OMIM:611102
HP:0012868	Abnormal sperm tail morphology	22873	DZIP1	OMIM:619102
HP:0012868	Abnormal sperm tail morphology	118491	CFAP70	OMIM:618670
HP:0012868	Abnormal sperm tail morphology	146754	DNAH2	OMIM:619094
HP:0012868	Abnormal sperm tail morphology	55779	CFAP44	OMIM:617593
HP:0012868	Abnormal sperm tail morphology	80217	CFAP43	OMIM:617592
HP:0012868	Abnormal sperm tail morphology	375307	CATIP	OMIM:619379
HP:0012868	Abnormal sperm tail morphology	255101	CFAP65	OMIM:618664
HP:0012868	Abnormal sperm tail morphology	8632	DNAH17	OMIM:618643
HP:0012868	Abnormal sperm tail morphology	84074	QRICH2	OMIM:618341
HP:0012868	Abnormal sperm tail morphology	83894	TTC29	OMIM:618745
HP:0012868	Abnormal sperm tail morphology	79846	CFAP69	OMIM:617959
HP:0012868	Abnormal sperm tail morphology	92749	DRC1	OMIM:620222
HP:0012868	Abnormal sperm tail morphology	79925	SPEF2	OMIM:618751
HP:0012868	Abnormal sperm tail morphology	84071	ARMC2	OMIM:618433
HP:0012868	Abnormal sperm tail morphology	159686	CFAP58	OMIM:619144
HP:0012868	Abnormal sperm tail morphology	122481	AK7	OMIM:617965
HP:0012868	Abnormal sperm tail morphology	85452	CFAP74	OMIM:620197
HP:0012868	Abnormal sperm tail morphology	157855	KCNU1	OMIM:620196
HP:0012868	Abnormal sperm tail morphology	91057	CCDC34	OMIM:620084
HP:0012868	Abnormal sperm tail morphology	1769	DNAH8	OMIM:619095
HP:0012868	Abnormal sperm tail morphology	199223	TTC21A	OMIM:618429
HP:0012868	Abnormal sperm tail morphology	286464	CFAP47	OMIM:301059
HP:0012868	Abnormal sperm tail morphology	144132	DNHD1	OMIM:619712
HP:0012868	Abnormal sperm tail morphology	196385	DNAH10	OMIM:619515
HP:0012868	Abnormal sperm tail morphology	57728	WDR19	OMIM:619867
HP:0012868	Abnormal sperm tail morphology	25981	DNAH1	OMIM:617576
HP:0012868	Abnormal sperm tail morphology	144406	CFAP251	OMIM:618152
HP:0012868	Abnormal sperm tail morphology	401024	FSIP2	OMIM:618153
HP:0012868	Abnormal sperm tail morphology	89876	CFAP91	OMIM:619177
HP:0012868	Abnormal sperm tail morphology	80173	IFT74	OMIM:619585
HP:0012868	Abnormal sperm tail morphology	6795	AURKC	OMIM:243060
HP:0012868	Abnormal sperm tail morphology	8468	FKBP6	OMIM:620103
HP:0012869	Acephalic spermatozoa	676	BRDT	OMIM:617644
HP:0012869	Acephalic spermatozoa	83449	PMFBP1	OMIM:618112
HP:0012869	Acephalic spermatozoa	83449	PMFBP1	ORPHA:529970
HP:0012869	Acephalic spermatozoa	140732	SUN5	OMIM:617187
HP:0012869	Acephalic spermatozoa	140732	SUN5	ORPHA:529970
HP:0012869	Acephalic spermatozoa	80705	TSGA10	OMIM:617961
HP:0012869	Acephalic spermatozoa	201134	CEP112	OMIM:619044
HP:0012861	Ovotestis	6736	SRY	ORPHA:1772
HP:0012861	Ovotestis	6736	SRY	OMIM:400045
HP:0012861	Ovotestis	2516	NR5A1	OMIM:617480
HP:0012861	Ovotestis	284654	RSPO1	OMIM:610644
HP:0012861	Ovotestis	54361	WNT4	OMIM:611812
HP:0012861	Ovotestis	1349	COX7B	OMIM:309801
HP:0012861	Ovotestis	3052	HCCS	OMIM:309801
HP:0012861	Ovotestis	54539	NDUFB11	OMIM:309801
HP:0009805	Low-output congestive heart failure	5250	SLC25A3	ORPHA:91130
HP:0009805	Low-output congestive heart failure	57104	PNPLA2	ORPHA:565612
HP:0009805	Low-output congestive heart failure	2548	GAA	ORPHA:308552
HP:0001360	Holoprosencephaly	2737	GLI3	ORPHA:672
HP:0001360	Holoprosencephaly	2737	GLI3	OMIM:146510
HP:0001360	Holoprosencephaly	5396	PRRX1	ORPHA:990
HP:0001360	Holoprosencephaly	5396	PRRX1	OMIM:202650
HP:0001360	Holoprosencephaly	5015	OTX2	ORPHA:990
HP:0001360	Holoprosencephaly	5015	OTX2	ORPHA:95494
HP:0001360	Holoprosencephaly	27238	GPKOW	ORPHA:2570
HP:0001360	Holoprosencephaly	23019	CNOT1	OMIM:619033
HP:0001360	Holoprosencephaly	23019	CNOT1	ORPHA:556955
HP:0001360	Holoprosencephaly	4659	PPP1R12A	OMIM:618820
HP:0001360	Holoprosencephaly	50937	CDON	OMIM:614226
HP:0001360	Holoprosencephaly	50937	CDON	ORPHA:280200
HP:0001360	Holoprosencephaly	79770	TXNDC15	OMIM:619879
HP:0001360	Holoprosencephaly	2218	FKTN	OMIM:253800
HP:0001360	Holoprosencephaly	2218	FKTN	ORPHA:588
HP:0001360	Holoprosencephaly	2261	FGFR3	ORPHA:93274
HP:0001360	Holoprosencephaly	148789	B3GALNT2	ORPHA:588
HP:0001360	Holoprosencephaly	29925	GMPPB	ORPHA:588
HP:0001360	Holoprosencephaly	79147	FKRP	ORPHA:588
HP:0001360	Holoprosencephaly	9215	LARGE1	ORPHA:588
HP:0001360	Holoprosencephaly	29954	POMT2	ORPHA:588
HP:0001360	Holoprosencephaly	55624	POMGNT1	ORPHA:588
HP:0001360	Holoprosencephaly	10585	POMT1	ORPHA:588
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:611638
HP:0001360	Holoprosencephaly	6469	SHH	ORPHA:280200
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:147250
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:142945
HP:0001360	Holoprosencephaly	2736	GLI2	OMIM:610829
HP:0001360	Holoprosencephaly	2736	GLI2	ORPHA:95494
HP:0001360	Holoprosencephaly	2736	GLI2	ORPHA:280200
HP:0001360	Holoprosencephaly	5626	PROP1	ORPHA:95494
HP:0001360	Holoprosencephaly	89884	LHX4	ORPHA:95494
HP:0001360	Holoprosencephaly	3170	FOXA2	ORPHA:95494
HP:0001360	Holoprosencephaly	5449	POU1F1	ORPHA:95494
HP:0001360	Holoprosencephaly	8820	HESX1	ORPHA:95494
HP:0001360	Holoprosencephaly	6299	SALL1	OMIM:107480
HP:0001360	Holoprosencephaly	3199	HOXA2	ORPHA:83463
HP:0001360	Holoprosencephaly	22858	CILK1	OMIM:612651
HP:0001360	Holoprosencephaly	1717	DHCR7	ORPHA:818
HP:0001360	Holoprosencephaly	1717	DHCR7	OMIM:270400
HP:0001360	Holoprosencephaly	55636	CHD7	ORPHA:138
HP:0001360	Holoprosencephaly	55636	CHD7	OMIM:214800
HP:0001360	Holoprosencephaly	9723	SEMA3E	ORPHA:138
HP:0001360	Holoprosencephaly	28514	DLL1	ORPHA:280200
HP:0001360	Holoprosencephaly	2253	FGF8	ORPHA:280200
HP:0001360	Holoprosencephaly	7050	TGIF1	ORPHA:280200
HP:0001360	Holoprosencephaly	4838	NODAL	ORPHA:280200
HP:0001360	Holoprosencephaly	51684	SUFU	ORPHA:280200
HP:0001360	Holoprosencephaly	2619	GAS1	ORPHA:280200
HP:0001360	Holoprosencephaly	84976	DISP1	ORPHA:280200
HP:0001360	Holoprosencephaly	8928	FOXH1	ORPHA:280200
HP:0001360	Holoprosencephaly	6657	SOX2	ORPHA:77298
HP:0001360	Holoprosencephaly	5925	RB1	ORPHA:1587
HP:0001360	Holoprosencephaly	4524	MTHFR	ORPHA:563612
HP:0001360	Holoprosencephaly	57216	VANGL2	ORPHA:563612
HP:0001360	Holoprosencephaly	9184	BUB3	ORPHA:1052
HP:0001360	Holoprosencephaly	699	BUB1	ORPHA:1052
HP:0001360	Holoprosencephaly	9702	CEP57	ORPHA:1052
HP:0001360	Holoprosencephaly	9319	TRIP13	ORPHA:1052
HP:0001360	Holoprosencephaly	701	BUB1B	ORPHA:1052
HP:0001360	Holoprosencephaly	3897	L1CAM	ORPHA:2182
HP:0001360	Holoprosencephaly	124997	WDR81	OMIM:617967
HP:0001360	Holoprosencephaly	26005	C2CD3	OMIM:615948
HP:0001360	Holoprosencephaly	8243	SMC1A	OMIM:301044
HP:0001360	Holoprosencephaly	22872	SEC31A	OMIM:618651
HP:0001360	Holoprosencephaly	84314	TMEM107	ORPHA:564
HP:0001360	Holoprosencephaly	26123	TCTN3	ORPHA:564
HP:0001360	Holoprosencephaly	79867	TCTN2	ORPHA:564
HP:0001360	Holoprosencephaly	80776	B9D2	ORPHA:564
HP:0001360	Holoprosencephaly	79600	TCTN1	ORPHA:564
HP:0001360	Holoprosencephaly	57096	RPGRIP1	ORPHA:564
HP:0001360	Holoprosencephaly	79848	CSPP1	ORPHA:564
HP:0001360	Holoprosencephaly	80184	CEP290	ORPHA:564
HP:0001360	Holoprosencephaly	51259	TMEM216	ORPHA:564
HP:0001360	Holoprosencephaly	57545	CC2D2A	ORPHA:564
HP:0001360	Holoprosencephaly	79583	TMEM231	ORPHA:564
HP:0001360	Holoprosencephaly	91147	TMEM67	ORPHA:564
HP:0001360	Holoprosencephaly	27077	B9D1	ORPHA:564
HP:0001360	Holoprosencephaly	23322	RPGRIP1L	ORPHA:564
HP:0001360	Holoprosencephaly	54903	MKS1	ORPHA:564
HP:0001360	Holoprosencephaly	65062	TMEM237	ORPHA:564
HP:0001360	Holoprosencephaly	5885	RAD21	OMIM:614701
HP:0001360	Holoprosencephaly	25914	RTTN	ORPHA:468631
HP:0001360	Holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0001360	Holoprosencephaly	2260	FGFR1	OMIM:615465
HP:0001360	Holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0001360	Holoprosencephaly	10735	STAG2	OMIM:301043
HP:0001360	Holoprosencephaly	23007	PLCH1	OMIM:619895
HP:0001360	Holoprosencephaly	6496	SIX3	OMIM:157170
HP:0009806	Nephrogenic diabetes insipidus	359	AQP2	OMIM:125800
HP:0009806	Nephrogenic diabetes insipidus	359	AQP2	ORPHA:223
HP:0009806	Nephrogenic diabetes insipidus	554	AVPR2	ORPHA:223
HP:0009806	Nephrogenic diabetes insipidus	63894	VIPAS39	OMIM:613404
HP:0009806	Nephrogenic diabetes insipidus	84100	ARL6	OMIM:209900
HP:0009806	Nephrogenic diabetes insipidus	79140	CCDC28B	OMIM:209900
HP:0009806	Nephrogenic diabetes insipidus	582	BBS1	OMIM:209900
HP:0009806	Nephrogenic diabetes insipidus	26276	VPS33B	OMIM:208085
HP:0009806	Nephrogenic diabetes insipidus	54675	CRLS1	OMIM:620167
HP:0009810	Abnormality of upper limb joint	2131	EXT1	ORPHA:321
HP:0009810	Abnormality of upper limb joint	2132	EXT2	ORPHA:321
HP:0009810	Abnormality of upper limb joint	3549	IHH	OMIM:112500
HP:0009810	Abnormality of upper limb joint	3549	IHH	ORPHA:93388
HP:0009810	Abnormality of upper limb joint	9361	LONP1	OMIM:600373
HP:0009810	Abnormality of upper limb joint	8720	MBTPS1	OMIM:618392
HP:0009810	Abnormality of upper limb joint	9321	TRIP11	OMIM:184260
HP:0009810	Abnormality of upper limb joint	55325	UFSP2	OMIM:617974
HP:0009810	Abnormality of upper limb joint	865	CBFB	OMIM:620099
HP:0009810	Abnormality of upper limb joint	55650	PIGV	OMIM:239300
HP:0009810	Abnormality of upper limb joint	7317	UBA1	ORPHA:1145
HP:0009810	Abnormality of upper limb joint	3868	KRT16	ORPHA:2199
HP:0009810	Abnormality of upper limb joint	3857	KRT9	ORPHA:2199
HP:0009810	Abnormality of upper limb joint	3848	KRT1	ORPHA:2199
HP:0009810	Abnormality of upper limb joint	3861	KRT14	ORPHA:69087
HP:0009810	Abnormality of upper limb joint	4204	MECP2	OMIM:300055
HP:0009810	Abnormality of upper limb joint	57863	CADM3	OMIM:619519
HP:0009810	Abnormality of upper limb joint	55681	SCYL2	ORPHA:1143
HP:0009810	Abnormality of upper limb joint	84570	COL25A1	ORPHA:1143
HP:0009810	Abnormality of upper limb joint	57222	ERGIC1	ORPHA:1143
HP:0009810	Abnormality of upper limb joint	57211	ADGRG6	OMIM:616503
HP:0009810	Abnormality of upper limb joint	80208	SPG11	OMIM:616668
HP:0009810	Abnormality of upper limb joint	6913	TBX15	OMIM:260660
HP:0009810	Abnormality of upper limb joint	388015	RTL1	ORPHA:254528
HP:0009810	Abnormality of upper limb joint	8788	DLK1	ORPHA:254528
HP:0009810	Abnormality of upper limb joint	55384	MEG3	ORPHA:254528
HP:0009810	Abnormality of upper limb joint	4921	DDR2	OMIM:618175
HP:0009810	Abnormality of upper limb joint	8449	DHX16	OMIM:618733
HP:0009810	Abnormality of upper limb joint	203859	ANO5	ORPHA:206549
HP:0009810	Abnormality of upper limb joint	1311	COMP	ORPHA:750
HP:0009810	Abnormality of upper limb joint	1311	COMP	OMIM:177170
HP:0009810	Abnormality of upper limb joint	1280	COL2A1	OMIM:271700
HP:0009810	Abnormality of upper limb joint	1280	COL2A1	ORPHA:1856
HP:0009810	Abnormality of upper limb joint	4322	MMP13	OMIM:602111
HP:0009810	Abnormality of upper limb joint	4882	NPR2	OMIM:602875
HP:0009810	Abnormality of upper limb joint	10262	SF3B4	OMIM:154400
HP:0009810	Abnormality of upper limb joint	6424	SFRP4	OMIM:265900
HP:0009810	Abnormality of upper limb joint	85301	COL27A1	OMIM:615155
HP:0009810	Abnormality of upper limb joint	80207	OPA3	ORPHA:67036
HP:0009810	Abnormality of upper limb joint	23233	EXOC6B	ORPHA:93359
HP:0009810	Abnormality of upper limb joint	126792	B3GALT6	ORPHA:93359
HP:0009810	Abnormality of upper limb joint	6023	RMRP	OMIM:250250
HP:0009810	Abnormality of upper limb joint	6023	RMRP	ORPHA:175
HP:0009810	Abnormality of upper limb joint	6023	RMRP	OMIM:607095
HP:0009810	Abnormality of upper limb joint	89970	RSPRY1	OMIM:616723
HP:0009810	Abnormality of upper limb joint	89970	RSPRY1	ORPHA:457395
HP:0009810	Abnormality of upper limb joint	10274	STAG1	ORPHA:502434
HP:0009810	Abnormality of upper limb joint	538	ATP7A	OMIM:304150
HP:0009810	Abnormality of upper limb joint	4796	TONSL	ORPHA:93357
HP:0009810	Abnormality of upper limb joint	4796	TONSL	OMIM:271510
HP:0009810	Abnormality of upper limb joint	10060	ABCC9	OMIM:619719
HP:0009810	Abnormality of upper limb joint	5447	POR	ORPHA:95699
HP:0009810	Abnormality of upper limb joint	4148	MATN3	OMIM:608728
HP:0009810	Abnormality of upper limb joint	4148	MATN3	ORPHA:156728
HP:0009810	Abnormality of upper limb joint	55869	HDAC8	OMIM:300882
HP:0009810	Abnormality of upper limb joint	100151683	RNU4ATAC	OMIM:226960
HP:0009810	Abnormality of upper limb joint	54928	BPNT2	OMIM:614078
HP:0009810	Abnormality of upper limb joint	83737	ITCH	OMIM:613385
HP:0009810	Abnormality of upper limb joint	1299	COL9A3	OMIM:600969
HP:0009810	Abnormality of upper limb joint	2782	GNB1	OMIM:616973
HP:0009810	Abnormality of upper limb joint	2263	FGFR2	OMIM:123790
HP:0009810	Abnormality of upper limb joint	7030	TFE3	OMIM:301066
HP:0009810	Abnormality of upper limb joint	10082	GPC6	OMIM:258315
HP:0009810	Abnormality of upper limb joint	25836	NIPBL	OMIM:122470
HP:0009810	Abnormality of upper limb joint	6910	TBX5	OMIM:142900
HP:0009810	Abnormality of upper limb joint	633	BGN	OMIM:300106
HP:0009810	Abnormality of upper limb joint	83452	RAB33B	OMIM:615222
HP:0009810	Abnormality of upper limb joint	55012	PPP2R3C	OMIM:618419
HP:0009810	Abnormality of upper limb joint	200734	SPRED2	OMIM:619745
HP:0009810	Abnormality of upper limb joint	3930	LBR	OMIM:618019
HP:0009810	Abnormality of upper limb joint	5116	PCNT	OMIM:210720
HP:0009810	Abnormality of upper limb joint	157570	ESCO2	OMIM:216100
HP:0009810	Abnormality of upper limb joint	54808	DYM	ORPHA:239
HP:0009810	Abnormality of upper limb joint	4313	MMP2	ORPHA:371428
HP:0009810	Abnormality of upper limb joint	4313	MMP2	OMIM:259600
HP:0009810	Abnormality of upper limb joint	4323	MMP14	ORPHA:371428
HP:0009810	Abnormality of upper limb joint	4323	MMP14	OMIM:277950
HP:0009810	Abnormality of upper limb joint	3835	KIF22	OMIM:603546
HP:0009810	Abnormality of upper limb joint	9451	EIF2AK3	OMIM:226980
HP:0009810	Abnormality of upper limb joint	57167	SALL4	OMIM:147750
HP:0009810	Abnormality of upper limb joint	54187	NANS	OMIM:610442
HP:0009810	Abnormality of upper limb joint	79158	GNPTAB	OMIM:252600
HP:0009810	Abnormality of upper limb joint	79158	GNPTAB	OMIM:252500
HP:0009810	Abnormality of upper limb joint	9939	RBM8A	OMIM:274000
HP:0009810	Abnormality of upper limb joint	5832	ALDH18A1	OMIM:601162
HP:0009810	Abnormality of upper limb joint	64374	SIL1	OMIM:248800
HP:0009810	Abnormality of upper limb joint	157680	VPS13B	ORPHA:193
HP:0009810	Abnormality of upper limb joint	157680	VPS13B	OMIM:216550
HP:0009810	Abnormality of upper limb joint	54361	WNT4	ORPHA:247768
HP:0009810	Abnormality of upper limb joint	5828	PEX2	OMIM:614866
HP:0009810	Abnormality of upper limb joint	673	BRAF	OMIM:115150
HP:0009810	Abnormality of upper limb joint	673	BRAF	OMIM:613707
HP:0009810	Abnormality of upper limb joint	673	BRAF	OMIM:613706
HP:0009810	Abnormality of upper limb joint	673	BRAF	ORPHA:1340
HP:0009810	Abnormality of upper limb joint	673	BRAF	OMIM:163950
HP:0009810	Abnormality of upper limb joint	55027	HEATR3	OMIM:620072
HP:0009810	Abnormality of upper limb joint	55717	WDR11	OMIM:620237
HP:0009810	Abnormality of upper limb joint	4763	NF1	OMIM:601321
HP:0009810	Abnormality of upper limb joint	10940	POP1	OMIM:617396
HP:0009810	Abnormality of upper limb joint	54496	PRMT7	OMIM:617157
HP:0009810	Abnormality of upper limb joint	92255	LMBRD2	OMIM:619694
HP:0009810	Abnormality of upper limb joint	5604	MAP2K1	ORPHA:1340
HP:0009810	Abnormality of upper limb joint	5604	MAP2K1	OMIM:163950
HP:0009810	Abnormality of upper limb joint	5605	MAP2K2	ORPHA:1340
HP:0009810	Abnormality of upper limb joint	444	ASPH	OMIM:601552
HP:0009810	Abnormality of upper limb joint	5718	PSMD12	ORPHA:529962
HP:0009810	Abnormality of upper limb joint	2186	BPTF	ORPHA:529962
HP:0009810	Abnormality of upper limb joint	23395	LARS2	OMIM:615300
HP:0009810	Abnormality of upper limb joint	6736	SRY	ORPHA:1772
HP:0009810	Abnormality of upper limb joint	23476	BRD4	ORPHA:199
HP:0009810	Abnormality of upper limb joint	5885	RAD21	ORPHA:199
HP:0009810	Abnormality of upper limb joint	5885	RAD21	OMIM:614701
HP:0009810	Abnormality of upper limb joint	6154	RPL26	OMIM:614900
HP:0009810	Abnormality of upper limb joint	6804	STX1A	ORPHA:904
HP:0009810	Abnormality of upper limb joint	7461	CLIP2	ORPHA:904
HP:0009810	Abnormality of upper limb joint	84277	DNAJC30	ORPHA:904
HP:0009810	Abnormality of upper limb joint	8468	FKBP6	ORPHA:904
HP:0009810	Abnormality of upper limb joint	5982	RFC2	ORPHA:904
HP:0009810	Abnormality of upper limb joint	2969	GTF2I	ORPHA:904
HP:0009810	Abnormality of upper limb joint	3984	LIMK1	ORPHA:904
HP:0009810	Abnormality of upper limb joint	9569	GTF2IRD1	ORPHA:904
HP:0009810	Abnormality of upper limb joint	155382	VPS37D	ORPHA:904
HP:0009810	Abnormality of upper limb joint	155368	METTL27	ORPHA:904
HP:0009810	Abnormality of upper limb joint	114049	BUD23	ORPHA:904
HP:0009810	Abnormality of upper limb joint	7458	EIF4H	ORPHA:904
HP:0009810	Abnormality of upper limb joint	84163	GTF2IRD2	ORPHA:904
HP:0009810	Abnormality of upper limb joint	9275	BCL7B	ORPHA:904
HP:0009810	Abnormality of upper limb joint	26608	TBL2	ORPHA:904
HP:0009810	Abnormality of upper limb joint	653361	NCF1	ORPHA:904
HP:0009810	Abnormality of upper limb joint	135886	TMEM270	ORPHA:904
HP:0009810	Abnormality of upper limb joint	51085	MLXIPL	ORPHA:904
HP:0009810	Abnormality of upper limb joint	51085	MLXIPL	OMIM:194050
HP:0009810	Abnormality of upper limb joint	9031	BAZ1B	ORPHA:904
HP:0009810	Abnormality of upper limb joint	2006	ELN	ORPHA:904
HP:0009810	Abnormality of upper limb joint	2006	ELN	OMIM:194050
HP:0009810	Abnormality of upper limb joint	4094	MAF	ORPHA:1272
HP:0009810	Abnormality of upper limb joint	4094	MAF	OMIM:601088
HP:0009810	Abnormality of upper limb joint	29998	BICRA	OMIM:619325
HP:0009810	Abnormality of upper limb joint	50945	TBX22	OMIM:302905
HP:0009810	Abnormality of upper limb joint	50945	TBX22	ORPHA:921
HP:0009810	Abnormality of upper limb joint	22800	RRAS2	ORPHA:648
HP:0009810	Abnormality of upper limb joint	867	CBL	ORPHA:648
HP:0009810	Abnormality of upper limb joint	8216	LZTR1	ORPHA:648
HP:0009810	Abnormality of upper limb joint	6016	RIT1	ORPHA:648
HP:0009810	Abnormality of upper limb joint	6237	RRAS	ORPHA:648
HP:0009810	Abnormality of upper limb joint	5894	RAF1	ORPHA:648
HP:0009810	Abnormality of upper limb joint	22808	MRAS	ORPHA:648
HP:0009810	Abnormality of upper limb joint	3845	KRAS	ORPHA:648
HP:0009810	Abnormality of upper limb joint	4893	NRAS	ORPHA:648
HP:0009810	Abnormality of upper limb joint	6654	SOS1	ORPHA:648
HP:0009810	Abnormality of upper limb joint	6655	SOS2	ORPHA:648
HP:0009810	Abnormality of upper limb joint	5922	RASA2	ORPHA:648
HP:0009810	Abnormality of upper limb joint	53834	FGFRL1	OMIM:194190
HP:0009810	Abnormality of upper limb joint	1487	CTBP1	OMIM:194190
HP:0009810	Abnormality of upper limb joint	3954	LETM1	OMIM:194190
HP:0009810	Abnormality of upper limb joint	7468	NSD2	OMIM:194190
HP:0009810	Abnormality of upper limb joint	10815	CPLX1	OMIM:194190
HP:0009810	Abnormality of upper limb joint	26040	SETBP1	ORPHA:798
HP:0009810	Abnormality of upper limb joint	83932	SPRTN	OMIM:616200
HP:0009810	Abnormality of upper limb joint	5352	PLOD2	OMIM:609220
HP:0009810	Abnormality of upper limb joint	3714	JAG2	OMIM:619566
HP:0009810	Abnormality of upper limb joint	6536	SLC6A9	OMIM:617301
HP:0009810	Abnormality of upper limb joint	5831	PYCR1	OMIM:614438
HP:0009810	Abnormality of upper limb joint	2010	EMD	OMIM:310300
HP:0009810	Abnormality of upper limb joint	2010	EMD	ORPHA:98863
HP:0009810	Abnormality of upper limb joint	5351	PLOD1	ORPHA:1900
HP:0009810	Abnormality of upper limb joint	7020	TFAP2A	OMIM:113620
HP:0009810	Abnormality of upper limb joint	127833	SYT2	OMIM:619461
HP:0009810	Abnormality of upper limb joint	54681	P4HTM	OMIM:618493
HP:0009810	Abnormality of upper limb joint	5277	PIGA	OMIM:300868
HP:0009810	Abnormality of upper limb joint	3908	LAMA2	OMIM:618138
HP:0009810	Abnormality of upper limb joint	2783	GNB2	OMIM:619503
HP:0009810	Abnormality of upper limb joint	4632	MYL1	OMIM:618414
HP:0009810	Abnormality of upper limb joint	9653	HS2ST1	OMIM:619194
HP:0009810	Abnormality of upper limb joint	9051	PSTPIP1	OMIM:604416
HP:0009810	Abnormality of upper limb joint	84065	TMEM222	OMIM:619470
HP:0009810	Abnormality of upper limb joint	6628	SNRPB	OMIM:117650
HP:0009810	Abnormality of upper limb joint	340419	RSPO2	OMIM:618022
HP:0009810	Abnormality of upper limb joint	1861	TOR1A	OMIM:618947
HP:0009810	Abnormality of upper limb joint	285175	UNC80	ORPHA:371364
HP:0009810	Abnormality of upper limb joint	84992	PIGY	OMIM:616809
HP:0009810	Abnormality of upper limb joint	2222	FDFT1	OMIM:618156
HP:0009810	Abnormality of upper limb joint	163175	LGI4	OMIM:617468
HP:0009810	Abnormality of upper limb joint	60681	FKBP10	OMIM:259450
HP:0009810	Abnormality of upper limb joint	2799	GNS	OMIM:252940
HP:0009810	Abnormality of upper limb joint	9215	LARGE1	OMIM:608840
HP:0009810	Abnormality of upper limb joint	1376	CPT2	OMIM:608836
HP:0009810	Abnormality of upper limb joint	339855	KY	OMIM:617114
HP:0009810	Abnormality of upper limb joint	5286	PIK3C2A	OMIM:618440
HP:0009810	Abnormality of upper limb joint	64116	SLC39A8	ORPHA:468699
HP:0009810	Abnormality of upper limb joint	91137	SLC25A46	OMIM:619303
HP:0009810	Abnormality of upper limb joint	2706	GJB2	OMIM:148210
HP:0009810	Abnormality of upper limb joint	1756	DMD	ORPHA:206546
HP:0009810	Abnormality of upper limb joint	79188	TMEM43	ORPHA:98853
HP:0009810	Abnormality of upper limb joint	23224	SYNE2	ORPHA:98853
HP:0009810	Abnormality of upper limb joint	8243	SMC1A	OMIM:300590
HP:0009810	Abnormality of upper limb joint	145173	B3GLCT	OMIM:261540
HP:0009810	Abnormality of upper limb joint	8815	BANF1	OMIM:614008
HP:0009810	Abnormality of upper limb joint	8291	DYSF	ORPHA:268
HP:0009810	Abnormality of upper limb joint	5781	PTPN11	OMIM:151100
HP:0009810	Abnormality of upper limb joint	9427	ECEL1	OMIM:615065
HP:0009810	Abnormality of upper limb joint	3265	HRAS	OMIM:218040
HP:0009810	Abnormality of upper limb joint	2273	FHL1	OMIM:300280
HP:0009810	Abnormality of upper limb joint	9126	SMC3	OMIM:610759
HP:0009810	Abnormality of upper limb joint	5728	PTEN	ORPHA:744
HP:0009810	Abnormality of upper limb joint	207	AKT1	ORPHA:744
HP:0009810	Abnormality of upper limb joint	6775	STAT4	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	3560	IL2RB	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	79722	ANKRD55	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	26191	PTPN22	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	919	CD247	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	3559	IL2RA	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	5771	PTPN2	ORPHA:85408
HP:0009810	Abnormality of upper limb joint	7421	VDR	OMIM:277440
HP:0009810	Abnormality of upper limb joint	9131	AIFM1	ORPHA:83629
HP:0009810	Abnormality of upper limb joint	120227	CYP2R1	OMIM:600081
HP:0009810	Abnormality of upper limb joint	120227	CYP2R1	ORPHA:289157
HP:0009810	Abnormality of upper limb joint	1594	CYP27B1	OMIM:264700
HP:0009810	Abnormality of upper limb joint	1594	CYP27B1	ORPHA:289157
HP:0009810	Abnormality of upper limb joint	1184	CLCN5	OMIM:300554
HP:0009810	Abnormality of upper limb joint	1184	CLCN5	OMIM:300009
HP:0009810	Abnormality of upper limb joint	1758	DMP1	ORPHA:289176
HP:0009810	Abnormality of upper limb joint	142680	SLC34A3	OMIM:241530
HP:0009810	Abnormality of upper limb joint	56603	CYP26B1	OMIM:614416
HP:0009810	Abnormality of upper limb joint	347734	SLC35B2	OMIM:620269
HP:0009810	Abnormality of upper limb joint	3187	HNRNPH1	OMIM:620083
HP:0009810	Abnormality of upper limb joint	23387	SIK3	OMIM:618162
HP:0009810	Abnormality of upper limb joint	57498	KIDINS220	OMIM:619501
HP:0009810	Abnormality of upper limb joint	5881	RAC3	OMIM:618577
HP:0009810	Abnormality of upper limb joint	2720	GLB1	OMIM:253010
HP:0009810	Abnormality of upper limb joint	427	ASAH1	OMIM:228000
HP:0009810	Abnormality of upper limb joint	79087	ALG12	ORPHA:79324
HP:0009810	Abnormality of upper limb joint	25839	COG4	OMIM:618150
HP:0009810	Abnormality of upper limb joint	51199	NIN	OMIM:614851
HP:0009810	Abnormality of upper limb joint	51199	NIN	ORPHA:319675
HP:0009810	Abnormality of upper limb joint	11285	B4GALT7	OMIM:130070
HP:0009810	Abnormality of upper limb joint	1182	CLCN3	OMIM:619512
HP:0009810	Abnormality of upper limb joint	1387	CREBBP	OMIM:180849
HP:0009810	Abnormality of upper limb joint	2033	EP300	OMIM:180849
HP:0009810	Abnormality of upper limb joint	10847	SRCAP	OMIM:136140
HP:0009810	Abnormality of upper limb joint	10847	SRCAP	ORPHA:2044
HP:0009810	Abnormality of upper limb joint	91179	SCARF2	OMIM:600920
HP:0009810	Abnormality of upper limb joint	2137	EXTL3	OMIM:617425
HP:0009810	Abnormality of upper limb joint	10225	CD96	OMIM:211750
HP:0009810	Abnormality of upper limb joint	10225	CD96	ORPHA:1308
HP:0009810	Abnormality of upper limb joint	3899	AFF3	OMIM:619297
HP:0009810	Abnormality of upper limb joint	1289	COL5A1	ORPHA:287
HP:0009810	Abnormality of upper limb joint	1290	COL5A2	ORPHA:287
HP:0009810	Abnormality of upper limb joint	545	ATR	OMIM:210600
HP:0009810	Abnormality of upper limb joint	649	BMP1	OMIM:614856
HP:0009810	Abnormality of upper limb joint	29980	DONSON	OMIM:617604
HP:0009810	Abnormality of upper limb joint	5573	PRKAR1A	OMIM:101800
HP:0009810	Abnormality of upper limb joint	6473	SHOX	OMIM:127300
HP:0009810	Abnormality of upper limb joint	341208	HEPHL1	OMIM:261990
HP:0009810	Abnormality of upper limb joint	2887	GRB10	ORPHA:96182
HP:0009810	Abnormality of upper limb joint	1297	COL9A1	ORPHA:166002
HP:0009810	Abnormality of upper limb joint	1298	COL9A2	ORPHA:166002
HP:0009810	Abnormality of upper limb joint	165	AEBP1	ORPHA:536532
HP:0009810	Abnormality of upper limb joint	84068	SLC10A7	OMIM:618363
HP:0009810	Abnormality of upper limb joint	5144	PDE4D	OMIM:614613
HP:0009810	Abnormality of upper limb joint	23169	SLC35D1	OMIM:269250
HP:0009810	Abnormality of upper limb joint	23592	LEMD3	ORPHA:166119
HP:0009810	Abnormality of upper limb joint	10682	EBP	OMIM:302960
HP:0009810	Abnormality of upper limb joint	10568	SLC34A2	ORPHA:60025
HP:0009810	Abnormality of upper limb joint	3417	IDH1	ORPHA:99646
HP:0009810	Abnormality of upper limb joint	26229	B3GAT3	OMIM:245600
HP:0009810	Abnormality of upper limb joint	7291	TWIST1	ORPHA:794
HP:0009810	Abnormality of upper limb joint	658	BMPR1B	ORPHA:2639
HP:0009810	Abnormality of upper limb joint	658	BMPR1B	ORPHA:2098
HP:0009810	Abnormality of upper limb joint	3209	HOXA13	ORPHA:2438
HP:0009810	Abnormality of upper limb joint	5566	PRKACA	ORPHA:289
HP:0009810	Abnormality of upper limb joint	5567	PRKACB	ORPHA:289
HP:0009810	Abnormality of upper limb joint	2735	GLI1	ORPHA:289
HP:0009810	Abnormality of upper limb joint	2121	EVC	ORPHA:289
HP:0009810	Abnormality of upper limb joint	51626	DYNC2LI1	ORPHA:289
HP:0009810	Abnormality of upper limb joint	132884	EVC2	ORPHA:289
HP:0009810	Abnormality of upper limb joint	727857	BHLHA9	ORPHA:157801
HP:0009810	Abnormality of upper limb joint	9555	MACROH2A1	ORPHA:1275
HP:0009810	Abnormality of upper limb joint	5307	PITX1	ORPHA:1275
HP:0009810	Abnormality of upper limb joint	4038	LRP4	ORPHA:3258
HP:0009810	Abnormality of upper limb joint	324	APC	ORPHA:3258
HP:0009810	Abnormality of upper limb joint	387733	IFITM5	OMIM:610967
HP:0009810	Abnormality of upper limb joint	55628	ZNF407	OMIM:619557
HP:0009810	Abnormality of upper limb joint	23219	FBXO28	OMIM:619777
HP:0009810	Abnormality of upper limb joint	84265	POLR3GL	OMIM:619234
HP:0009810	Abnormality of upper limb joint	29072	SETD2	ORPHA:821
HP:0009810	Abnormality of upper limb joint	10297	APC2	ORPHA:821
HP:0009810	Abnormality of upper limb joint	3798	KIF5A	ORPHA:100991
HP:0009810	Abnormality of upper limb joint	8823	FGF16	OMIM:309630
HP:0009810	Abnormality of upper limb joint	64093	SMOC1	OMIM:206920
HP:0009810	Abnormality of upper limb joint	9775	EIF4A3	OMIM:268305
HP:0009810	Abnormality of upper limb joint	51305	KCNK9	ORPHA:166108
HP:0009810	Abnormality of upper limb joint	22880	MORC2	ORPHA:466768
HP:0009810	Abnormality of upper limb joint	825	CAPN3	ORPHA:267
HP:0009810	Abnormality of upper limb joint	113179	ADAT3	ORPHA:363528
HP:0009810	Abnormality of upper limb joint	7043	TGFB3	OMIM:615582
HP:0009810	Abnormality of upper limb joint	2317	FLNB	OMIM:150250
HP:0009810	Abnormality of upper limb joint	9791	PTDSS1	OMIM:151050
HP:0009810	Abnormality of upper limb joint	22856	CHSY1	ORPHA:363417
HP:0009810	Abnormality of upper limb joint	4853	NOTCH2	OMIM:102500
HP:0009810	Abnormality of upper limb joint	54332	GDAP1	ORPHA:99948
HP:0009810	Abnormality of upper limb joint	6399	TRAPPC2	ORPHA:93284
HP:0009810	Abnormality of upper limb joint	4054	LTBP3	OMIM:617809
HP:0009810	Abnormality of upper limb joint	8292	COLQ	ORPHA:98915
HP:0009810	Abnormality of upper limb joint	3913	LAMB2	ORPHA:98915
HP:0009810	Abnormality of upper limb joint	4625	MYH7	ORPHA:437572
HP:0009810	Abnormality of upper limb joint	10020	GNE	ORPHA:602
HP:0009810	Abnormality of upper limb joint	5745	PTH1R	ORPHA:79106
HP:0009810	Abnormality of upper limb joint	9499	MYOT	ORPHA:266
HP:0009810	Abnormality of upper limb joint	4233	MET	OMIM:620019
HP:0009810	Abnormality of upper limb joint	4091	SMAD6	OMIM:179300
HP:0009810	Abnormality of upper limb joint	10584	COLEC10	ORPHA:293843
HP:0009810	Abnormality of upper limb joint	5648	MASP1	ORPHA:293843
HP:0009810	Abnormality of upper limb joint	78989	COLEC11	ORPHA:293843
HP:0009810	Abnormality of upper limb joint	2122	MECOM	OMIM:616738
HP:0009810	Abnormality of upper limb joint	3207	HOXA11	OMIM:605432
HP:0009810	Abnormality of upper limb joint	6812	STXBP1	ORPHA:495818
HP:0009810	Abnormality of upper limb joint	171023	ASXL1	ORPHA:97297
HP:0009810	Abnormality of upper limb joint	7476	WNT7A	OMIM:276820
HP:0009810	Abnormality of upper limb joint	145258	GSC	OMIM:602471
HP:0009810	Abnormality of upper limb joint	5167	ENPP1	ORPHA:51608
HP:0009810	Abnormality of upper limb joint	368	ABCC6	ORPHA:51608
HP:0009810	Abnormality of upper limb joint	10664	CTCF	ORPHA:363611
HP:0009810	Abnormality of upper limb joint	26053	AUTS2	ORPHA:352490
HP:0009810	Abnormality of upper limb joint	219854	TMEM218	OMIM:619562
HP:0009810	Abnormality of upper limb joint	23291	FBXW11	OMIM:618914
HP:0009810	Abnormality of upper limb joint	79912	PYROXD1	OMIM:617258
HP:0009810	Abnormality of upper limb joint	9757	KMT2B	OMIM:619934
HP:0009810	Abnormality of upper limb joint	3720	JARID2	OMIM:620098
HP:0009810	Abnormality of upper limb joint	10765	KDM5B	OMIM:618109
HP:0009810	Abnormality of upper limb joint	9487	PIGL	OMIM:280000
HP:0009810	Abnormality of upper limb joint	10093	ARPC4	OMIM:620141
HP:0009810	Abnormality of upper limb joint	7021	TFAP2B	OMIM:169100
HP:0009810	Abnormality of upper limb joint	25942	SIN3A	OMIM:613406
HP:0009810	Abnormality of upper limb joint	11011	TLK2	OMIM:618050
HP:0009810	Abnormality of upper limb joint	6909	TBX2	OMIM:618223
HP:0009810	Abnormality of upper limb joint	80816	ASXL3	OMIM:615485
HP:0009810	Abnormality of upper limb joint	81857	MED25	ORPHA:464738
HP:0009810	Abnormality of upper limb joint	1718	DHCR24	OMIM:602398
HP:0009810	Abnormality of upper limb joint	2737	GLI3	OMIM:175700
HP:0009810	Abnormality of upper limb joint	1001	CDH3	OMIM:225280
HP:0009810	Abnormality of upper limb joint	5830	PEX5	OMIM:214110
HP:0009810	Abnormality of upper limb joint	1235	CCR6	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	79932	KIAA0319L	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	1490	CCN2	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	3663	IRF5	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	857	CAV1	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	3123	HLA-DRB1	ORPHA:220402
HP:0009810	Abnormality of upper limb joint	51715	RAB23	OMIM:201000
HP:0009810	Abnormality of upper limb joint	139285	AMER1	OMIM:300373
HP:0009810	Abnormality of upper limb joint	8626	TP63	OMIM:603543
HP:0009810	Abnormality of upper limb joint	7390	UROS	OMIM:263700
HP:0009810	Abnormality of upper limb joint	1272	CNTN1	OMIM:612540
HP:0009810	Abnormality of upper limb joint	3572	IL6ST	OMIM:618523
HP:0009810	Abnormality of upper limb joint	10195	ALG3	OMIM:601110
HP:0009810	Abnormality of upper limb joint	51651	PTRH2	ORPHA:456312
HP:0009810	Abnormality of upper limb joint	57449	PLEKHG5	OMIM:611067
HP:0009810	Abnormality of upper limb joint	5376	PMP22	ORPHA:90658
HP:0009810	Abnormality of upper limb joint	26227	PHGDH	OMIM:256520
HP:0009810	Abnormality of upper limb joint	1277	COL1A1	OMIM:130060
HP:0009810	Abnormality of upper limb joint	6134	RPL10	OMIM:300998
HP:0009810	Abnormality of upper limb joint	23327	NEDD4L	OMIM:617201
HP:0009810	Abnormality of upper limb joint	8985	PLOD3	OMIM:612394
HP:0009810	Abnormality of upper limb joint	1889	ECE1	OMIM:613870
HP:0009810	Abnormality of upper limb joint	10084	PQBP1	OMIM:309500
HP:0009810	Abnormality of upper limb joint	4841	NONO	OMIM:300967
HP:0009810	Abnormality of upper limb joint	4010	LMX1B	ORPHA:2614
HP:0009810	Abnormality of upper limb joint	6662	SOX9	OMIM:114290
HP:0009810	Abnormality of upper limb joint	4297	KMT2A	OMIM:605130
HP:0009810	Abnormality of upper limb joint	64682	ANAPC1	ORPHA:221008
HP:0009810	Abnormality of upper limb joint	2254	FGF9	OMIM:612961
HP:0009810	Abnormality of upper limb joint	6938	TCF12	ORPHA:35099
HP:0009810	Abnormality of upper limb joint	7545	ZIC1	ORPHA:35099
HP:0009810	Abnormality of upper limb joint	2192	FBLN1	OMIM:608180
HP:0009810	Abnormality of upper limb joint	1593	CYP27A1	ORPHA:909
HP:0009810	Abnormality of upper limb joint	2733	GLE1	ORPHA:1486
HP:0009810	Abnormality of upper limb joint	9820	CUL7	ORPHA:2616
HP:0009810	Abnormality of upper limb joint	23363	OBSL1	ORPHA:2616
HP:0009810	Abnormality of upper limb joint	83987	CCDC8	ORPHA:2616
HP:0009810	Abnormality of upper limb joint	1294	COL7A1	ORPHA:158673
HP:0009810	Abnormality of upper limb joint	1294	COL7A1	ORPHA:89843
HP:0009810	Abnormality of upper limb joint	8036	SHOC2	ORPHA:2701
HP:0009810	Abnormality of upper limb joint	5500	PPP1CB	ORPHA:2701
HP:0009810	Abnormality of upper limb joint	2690	GHR	ORPHA:633
HP:0009810	Abnormality of upper limb joint	7516	XRCC2	OMIM:617247
HP:0009810	Abnormality of upper limb joint	11160	ERLIN2	ORPHA:209951
HP:0009810	Abnormality of upper limb joint	5297	PI4KA	OMIM:616531
HP:0009810	Abnormality of upper limb joint	6840	SVIL	OMIM:619040
HP:0009810	Abnormality of upper limb joint	342035	GLDN	OMIM:617194
HP:0009810	Abnormality of upper limb joint	57190	SELENON	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	58	ACTA1	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	4633	MYL2	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	3679	ITGA7	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	9200	HACD1	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	7170	TPM3	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	51776	MAP3K20	ORPHA:2020
HP:0009810	Abnormality of upper limb joint	28982	FLVCR1	ORPHA:88628
HP:0009810	Abnormality of upper limb joint	28982	FLVCR1	OMIM:609033
HP:0009810	Abnormality of upper limb joint	5159	PDGFRB	OMIM:601812
HP:0009810	Abnormality of upper limb joint	23345	SYNE1	OMIM:618484
HP:0009810	Abnormality of upper limb joint	23345	SYNE1	ORPHA:319332
HP:0009810	Abnormality of upper limb joint	4747	NEFL	ORPHA:101085
HP:0009810	Abnormality of upper limb joint	1859	DYRK1A	ORPHA:464311
HP:0009810	Abnormality of upper limb joint	2588	GALNS	OMIM:253000
HP:0009810	Abnormality of upper limb joint	64423	INF2	OMIM:614455
HP:0009810	Abnormality of upper limb joint	10280	SIGMAR1	OMIM:605726
HP:0009810	Abnormality of upper limb joint	10397	NDRG1	OMIM:601455
HP:0009810	Abnormality of upper limb joint	3315	HSPB1	OMIM:606595
HP:0009810	Abnormality of upper limb joint	8566	PDXK	OMIM:618511
HP:0009810	Abnormality of upper limb joint	3098	HK1	OMIM:605285
HP:0009810	Abnormality of upper limb joint	9401	RECQL4	ORPHA:221016
HP:0009810	Abnormality of upper limb joint	2218	FKTN	ORPHA:272
HP:0009810	Abnormality of upper limb joint	4621	MYH3	ORPHA:2053
HP:0009810	Abnormality of upper limb joint	4621	MYH3	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	4621	MYH3	ORPHA:2990
HP:0009810	Abnormality of upper limb joint	259232	NALCN	ORPHA:2053
HP:0009810	Abnormality of upper limb joint	259232	NALCN	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	8294	H4C9	OMIM:619951
HP:0009810	Abnormality of upper limb joint	3094	HINT1	ORPHA:324442
HP:0009810	Abnormality of upper limb joint	8838	CCN6	OMIM:208230
HP:0009810	Abnormality of upper limb joint	1947	EFNB1	ORPHA:1520
HP:0009810	Abnormality of upper limb joint	7355	SLC35A2	ORPHA:356961
HP:0009810	Abnormality of upper limb joint	118429	ANTXR2	ORPHA:2176
HP:0009810	Abnormality of upper limb joint	5077	PAX3	ORPHA:1529
HP:0009810	Abnormality of upper limb joint	5077	PAX3	ORPHA:896
HP:0009810	Abnormality of upper limb joint	5077	PAX3	OMIM:148820
HP:0009810	Abnormality of upper limb joint	2316	FLNA	OMIM:300244
HP:0009810	Abnormality of upper limb joint	2316	FLNA	ORPHA:90652
HP:0009810	Abnormality of upper limb joint	2316	FLNA	ORPHA:1826
HP:0009810	Abnormality of upper limb joint	2316	FLNA	OMIM:305620
HP:0009810	Abnormality of upper limb joint	9241	NOG	ORPHA:3250
HP:0009810	Abnormality of upper limb joint	8200	GDF5	ORPHA:3250
HP:0009810	Abnormality of upper limb joint	54968	TMEM70	ORPHA:1194
HP:0009810	Abnormality of upper limb joint	613	BCR	ORPHA:261330
HP:0009810	Abnormality of upper limb joint	1399	CRKL	ORPHA:261330
HP:0009810	Abnormality of upper limb joint	5594	MAPK1	ORPHA:261330
HP:0009810	Abnormality of upper limb joint	84466	MEGF10	OMIM:614399
HP:0009810	Abnormality of upper limb joint	72	ACTG2	ORPHA:2604
HP:0009810	Abnormality of upper limb joint	10216	PRG4	ORPHA:2848
HP:0009810	Abnormality of upper limb joint	3508	IGHMBP2	OMIM:604320
HP:0009810	Abnormality of upper limb joint	6926	TBX3	ORPHA:3138
HP:0009810	Abnormality of upper limb joint	51360	MBTPS2	ORPHA:2273
HP:0009810	Abnormality of upper limb joint	10381	TUBB3	OMIM:600638
HP:0009810	Abnormality of upper limb joint	9469	CHST3	OMIM:143095
HP:0009810	Abnormality of upper limb joint	3423	IDS	ORPHA:217085
HP:0009810	Abnormality of upper limb joint	3423	IDS	ORPHA:217093
HP:0009810	Abnormality of upper limb joint	64359	NXN	ORPHA:1507
HP:0009810	Abnormality of upper limb joint	4920	ROR2	ORPHA:1507
HP:0009810	Abnormality of upper limb joint	2697	GJA1	ORPHA:2710
HP:0009810	Abnormality of upper limb joint	2697	GJA1	ORPHA:93404
HP:0009810	Abnormality of upper limb joint	64127	NOD2	OMIM:186580
HP:0009810	Abnormality of upper limb joint	64127	NOD2	ORPHA:90340
HP:0009810	Abnormality of upper limb joint	6999	TDO2	OMIM:600627
HP:0009810	Abnormality of upper limb joint	1301	COL11A1	ORPHA:2021
HP:0009810	Abnormality of upper limb joint	1302	COL11A2	ORPHA:2021
HP:0009810	Abnormality of upper limb joint	10716	TBR1	ORPHA:1617
HP:0009810	Abnormality of upper limb joint	3425	IDUA	OMIM:607015
HP:0009810	Abnormality of upper limb joint	3425	IDUA	ORPHA:93473
HP:0009810	Abnormality of upper limb joint	4593	MUSK	OMIM:208150
HP:0009810	Abnormality of upper limb joint	4593	MUSK	ORPHA:994
HP:0009810	Abnormality of upper limb joint	63895	PIEZO2	OMIM:114300
HP:0009810	Abnormality of upper limb joint	63895	PIEZO2	ORPHA:376
HP:0009810	Abnormality of upper limb joint	63895	PIEZO2	ORPHA:2461
HP:0009810	Abnormality of upper limb joint	56006	SMG9	OMIM:616920
HP:0009810	Abnormality of upper limb joint	1857	DVL3	ORPHA:3107
HP:0009810	Abnormality of upper limb joint	7474	WNT5A	ORPHA:3107
HP:0009810	Abnormality of upper limb joint	1855	DVL1	ORPHA:3107
HP:0009810	Abnormality of upper limb joint	2535	FZD2	ORPHA:3107
HP:0009810	Abnormality of upper limb joint	9508	ADAMTS3	ORPHA:2136
HP:0009810	Abnormality of upper limb joint	147372	CCBE1	ORPHA:2136
HP:0009810	Abnormality of upper limb joint	79633	FAT4	ORPHA:2136
HP:0009810	Abnormality of upper limb joint	5189	PEX1	ORPHA:3220
HP:0009810	Abnormality of upper limb joint	5190	PEX6	ORPHA:3220
HP:0009810	Abnormality of upper limb joint	5590	PRKCZ	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	2563	GABRD	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	23013	SPEN	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	8510	MMP23B	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	7798	LUZP1	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	6497	SKI	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	6497	SKI	ORPHA:2462
HP:0009810	Abnormality of upper limb joint	10630	PDPN	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	3339	HSPG2	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	10277	UBE4B	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	8514	KCNAB2	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	473	RERE	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	63976	PRDM16	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	54897	CASZ1	ORPHA:1606
HP:0009810	Abnormality of upper limb joint	9719	ADAMTSL2	OMIM:231050
HP:0009810	Abnormality of upper limb joint	4952	OCRL	OMIM:309000
HP:0009810	Abnormality of upper limb joint	8517	IKBKG	ORPHA:464
HP:0009810	Abnormality of upper limb joint	10436	EMG1	ORPHA:1270
HP:0009810	Abnormality of upper limb joint	57492	ARID1B	ORPHA:251056
HP:0009810	Abnormality of upper limb joint	11128	POLR3A	ORPHA:3455
HP:0009810	Abnormality of upper limb joint	2239	GPC4	ORPHA:373
HP:0009810	Abnormality of upper limb joint	2719	GPC3	ORPHA:373
HP:0009810	Abnormality of upper limb joint	55612	FERMT1	ORPHA:2908
HP:0009810	Abnormality of upper limb joint	3977	LIFR	ORPHA:3206
HP:0009810	Abnormality of upper limb joint	23483	TGDS	ORPHA:1388
HP:0009810	Abnormality of upper limb joint	2260	FGFR1	OMIM:166250
HP:0009810	Abnormality of upper limb joint	7140	TNNT3	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	7169	TPM2	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	7136	TNNI2	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	7136	TNNI2	OMIM:601680
HP:0009810	Abnormality of upper limb joint	4604	MYBPC1	ORPHA:1146
HP:0009810	Abnormality of upper limb joint	6885	MAP3K7	ORPHA:1826
HP:0009810	Abnormality of upper limb joint	117581	TWIST2	ORPHA:920
HP:0009810	Abnormality of upper limb joint	64324	NSD1	ORPHA:3447
HP:0009810	Abnormality of upper limb joint	8726	EED	ORPHA:3447
HP:0009810	Abnormality of upper limb joint	23512	SUZ12	ORPHA:3447
HP:0009810	Abnormality of upper limb joint	2146	EZH2	ORPHA:3447
HP:0009810	Abnormality of upper limb joint	1723	DHODH	ORPHA:246
HP:0009810	Abnormality of upper limb joint	257	ALX3	ORPHA:391474
HP:0009810	Abnormality of upper limb joint	3239	HOXD13	OMIM:186300
HP:0009810	Abnormality of upper limb joint	3239	HOXD13	ORPHA:93406
HP:0009810	Abnormality of upper limb joint	54903	MKS1	OMIM:249000
HP:0009810	Abnormality of upper limb joint	91252	SLC39A13	OMIM:612350
HP:0009810	Abnormality of upper limb joint	22930	RAB3GAP1	OMIM:619420
HP:0009810	Abnormality of upper limb joint	7046	TGFBR1	ORPHA:60030
HP:0009810	Abnormality of upper limb joint	10526	IPO8	ORPHA:60030
HP:0009810	Abnormality of upper limb joint	7048	TGFBR2	ORPHA:60030
HP:0009810	Abnormality of upper limb joint	3897	L1CAM	ORPHA:2466
HP:0009810	Abnormality of upper limb joint	2245	FGD1	ORPHA:915
HP:0009810	Abnormality of upper limb joint	2200	FBN1	ORPHA:2462
HP:0009810	Abnormality of upper limb joint	2201	FBN2	ORPHA:115
HP:0009810	Abnormality of upper limb joint	7227	TRPS1	ORPHA:77258
HP:0009810	Abnormality of upper limb joint	4088	SMAD3	ORPHA:284984
HP:0009810	Abnormality of upper limb joint	27238	GPKOW	ORPHA:2570
HP:0009810	Abnormality of upper limb joint	10466	COG5	ORPHA:263487
HP:0009810	Abnormality of upper limb joint	55315	SLC29A3	OMIM:602782
HP:0009810	Abnormality of upper limb joint	23102	TBC1D2B	OMIM:619323
HP:0009810	Abnormality of upper limb joint	2068	ERCC2	OMIM:610756
HP:0009810	Abnormality of upper limb joint	2068	ERCC2	ORPHA:1466
HP:0009810	Abnormality of upper limb joint	51114	ZDHHC9	ORPHA:776
HP:0009810	Abnormality of upper limb joint	65109	UPF3B	ORPHA:776
HP:0009810	Abnormality of upper limb joint	9968	MED12	ORPHA:776
HP:0009810	Abnormality of upper limb joint	2067	ERCC1	OMIM:610758
HP:0009810	Abnormality of upper limb joint	2067	ERCC1	ORPHA:1466
HP:0009810	Abnormality of upper limb joint	114548	NLRP3	ORPHA:575
HP:0009810	Abnormality of upper limb joint	2074	ERCC6	ORPHA:1466
HP:0009810	Abnormality of upper limb joint	2073	ERCC5	ORPHA:1466
HP:0009810	Abnormality of upper limb joint	134701	RIPPLY2	ORPHA:2311
HP:0009810	Abnormality of upper limb joint	10683	DLL3	ORPHA:2311
HP:0009810	Abnormality of upper limb joint	3955	LFNG	ORPHA:2311
HP:0009810	Abnormality of upper limb joint	84667	HES7	ORPHA:2311
HP:0009810	Abnormality of upper limb joint	145873	MESP2	ORPHA:2311
HP:0009810	Abnormality of upper limb joint	81620	CDT1	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	5000	ORC4	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	23594	ORC6	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	8318	CDC45	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	990	CDC6	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	4998	ORC1	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	51053	GMNN	ORPHA:2554
HP:0009810	Abnormality of upper limb joint	8260	NAA10	ORPHA:568
HP:0009810	Abnormality of upper limb joint	54880	BCOR	ORPHA:568
HP:0009810	Abnormality of upper limb joint	64327	LMBR1	ORPHA:93405
HP:0009810	Abnormality of upper limb joint	6469	SHH	ORPHA:93405
HP:0009810	Abnormality of upper limb joint	4927	NUP88	ORPHA:994
HP:0009810	Abnormality of upper limb joint	7846	TUBA1A	ORPHA:994
HP:0009810	Abnormality of upper limb joint	4654	MYOD1	ORPHA:994
HP:0009810	Abnormality of upper limb joint	5913	RAPSN	ORPHA:994
HP:0009810	Abnormality of upper limb joint	6572	SLC18A3	ORPHA:994
HP:0009810	Abnormality of upper limb joint	285489	DOK7	ORPHA:994
HP:0009810	Abnormality of upper limb joint	3914	LAMB3	OMIM:226650
HP:0009810	Abnormality of upper limb joint	9150	CTDP1	ORPHA:48431
HP:0009810	Abnormality of upper limb joint	8092	ALX1	ORPHA:306542
HP:0009810	Abnormality of upper limb joint	29895	MYL11	OMIM:619110
HP:0009810	Abnormality of upper limb joint	64840	PORCN	ORPHA:2092
HP:0009810	Abnormality of upper limb joint	23443	SLC35A3	OMIM:615553
HP:0009810	Abnormality of upper limb joint	285590	SH3PXD2B	ORPHA:137834
HP:0009810	Abnormality of upper limb joint	1836	SLC26A2	ORPHA:628
HP:0009810	Abnormality of upper limb joint	25914	RTTN	ORPHA:468631
HP:0009810	Abnormality of upper limb joint	9935	MAFB	ORPHA:2774
HP:0009810	Abnormality of upper limb joint	28952	CCDC22	OMIM:300963
HP:0009810	Abnormality of upper limb joint	8450	CUL4B	ORPHA:85293
HP:0009810	Abnormality of upper limb joint	1303	COL12A1	ORPHA:610
HP:0009810	Abnormality of upper limb joint	1291	COL6A1	ORPHA:610
HP:0009810	Abnormality of upper limb joint	1291	COL6A1	OMIM:158810
HP:0009810	Abnormality of upper limb joint	1292	COL6A2	ORPHA:610
HP:0009810	Abnormality of upper limb joint	1292	COL6A2	OMIM:158810
HP:0009810	Abnormality of upper limb joint	1293	COL6A3	ORPHA:610
HP:0009810	Abnormality of upper limb joint	1293	COL6A3	OMIM:158810
HP:0009810	Abnormality of upper limb joint	26092	TOR1AIP1	OMIM:617072
HP:0009810	Abnormality of upper limb joint	8242	KDM5C	ORPHA:85279
HP:0009810	Abnormality of upper limb joint	59341	TRPV4	ORPHA:2635
HP:0009810	Abnormality of upper limb joint	2261	FGFR3	ORPHA:85164
HP:0009810	Abnormality of upper limb joint	4000	LMNA	ORPHA:1662
HP:0009810	Abnormality of upper limb joint	10269	ZMPSTE24	ORPHA:1662
HP:0009810	Abnormality of upper limb joint	1146	CHRNG	ORPHA:2990
HP:0009810	Abnormality of upper limb joint	23522	KAT6B	ORPHA:3047
HP:0009810	Abnormality of upper limb joint	26123	TCTN3	ORPHA:2753
HP:0009810	Abnormality of upper limb joint	64131	XYLT1	ORPHA:1425
HP:0009810	Abnormality of upper limb joint	124583	CANT1	ORPHA:1425
HP:0009810	Abnormality of upper limb joint	55790	CSGALNACT1	ORPHA:1425
HP:0009810	Abnormality of upper limb joint	23529	CLCF1	ORPHA:1545
HP:0009810	Abnormality of upper limb joint	9244	CRLF1	ORPHA:1545
HP:0009810	Abnormality of upper limb joint	51002	TPRKB	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	84942	WDR73	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	55644	OSGEP	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	57122	NUP107	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	10785	WDR4	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	55746	NUP133	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	112858	TP53RK	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	8270	LAGE3	ORPHA:2065
HP:0009810	Abnormality of upper limb joint	5696	PSMB8	OMIM:256040
HP:0009810	Abnormality of upper limb joint	56916	SMARCAD1	ORPHA:1658
HP:0009811	Abnormality of the elbow	1311	COMP	ORPHA:750
HP:0009811	Abnormality of the elbow	1311	COMP	OMIM:177170
HP:0009811	Abnormality of the elbow	1280	COL2A1	OMIM:271700
HP:0009811	Abnormality of the elbow	1280	COL2A1	ORPHA:1856
HP:0009811	Abnormality of the elbow	4322	MMP13	OMIM:602111
HP:0009811	Abnormality of the elbow	4882	NPR2	OMIM:602875
HP:0009811	Abnormality of the elbow	10262	SF3B4	OMIM:154400
HP:0009811	Abnormality of the elbow	6424	SFRP4	OMIM:265900
HP:0009811	Abnormality of the elbow	85301	COL27A1	OMIM:615155
HP:0009811	Abnormality of the elbow	80207	OPA3	ORPHA:67036
HP:0009811	Abnormality of the elbow	23233	EXOC6B	ORPHA:93359
HP:0009811	Abnormality of the elbow	126792	B3GALT6	ORPHA:93359
HP:0009811	Abnormality of the elbow	4010	LMX1B	ORPHA:2614
HP:0009811	Abnormality of the elbow	4010	LMX1B	OMIM:161200
HP:0009811	Abnormality of the elbow	6023	RMRP	OMIM:250250
HP:0009811	Abnormality of the elbow	6023	RMRP	ORPHA:175
HP:0009811	Abnormality of the elbow	6023	RMRP	OMIM:607095
HP:0009811	Abnormality of the elbow	89970	RSPRY1	OMIM:616723
HP:0009811	Abnormality of the elbow	89970	RSPRY1	ORPHA:457395
HP:0009811	Abnormality of the elbow	10274	STAG1	ORPHA:502434
HP:0009811	Abnormality of the elbow	538	ATP7A	OMIM:304150
HP:0009811	Abnormality of the elbow	4796	TONSL	ORPHA:93357
HP:0009811	Abnormality of the elbow	4796	TONSL	OMIM:271510
HP:0009811	Abnormality of the elbow	10060	ABCC9	OMIM:619719
HP:0009811	Abnormality of the elbow	5447	POR	ORPHA:95699
HP:0009811	Abnormality of the elbow	4148	MATN3	OMIM:608728
HP:0009811	Abnormality of the elbow	4148	MATN3	ORPHA:156728
HP:0009811	Abnormality of the elbow	55869	HDAC8	OMIM:300882
HP:0009811	Abnormality of the elbow	100151683	RNU4ATAC	OMIM:226960
HP:0009811	Abnormality of the elbow	5594	MAPK1	OMIM:619087
HP:0009811	Abnormality of the elbow	54928	BPNT2	OMIM:614078
HP:0009811	Abnormality of the elbow	83737	ITCH	OMIM:613385
HP:0009811	Abnormality of the elbow	55790	CSGALNACT1	OMIM:618870
HP:0009811	Abnormality of the elbow	1299	COL9A3	OMIM:600969
HP:0009811	Abnormality of the elbow	2782	GNB1	OMIM:616973
HP:0009811	Abnormality of the elbow	2263	FGFR2	OMIM:123790
HP:0009811	Abnormality of the elbow	2201	FBN2	OMIM:121050
HP:0009811	Abnormality of the elbow	23529	CLCF1	OMIM:610313
HP:0009811	Abnormality of the elbow	7030	TFE3	OMIM:301066
HP:0009811	Abnormality of the elbow	2200	FBN1	OMIM:154700
HP:0009811	Abnormality of the elbow	10082	GPC6	OMIM:258315
HP:0009811	Abnormality of the elbow	2261	FGFR3	OMIM:146000
HP:0009811	Abnormality of the elbow	2261	FGFR3	OMIM:100800
HP:0009811	Abnormality of the elbow	2261	FGFR3	ORPHA:15
HP:0009811	Abnormality of the elbow	25836	NIPBL	OMIM:122470
HP:0009811	Abnormality of the elbow	2146	EZH2	OMIM:277590
HP:0009811	Abnormality of the elbow	2317	FLNB	OMIM:272460
HP:0009811	Abnormality of the elbow	6910	TBX5	OMIM:142900
HP:0009811	Abnormality of the elbow	633	BGN	OMIM:300106
HP:0009811	Abnormality of the elbow	83452	RAB33B	OMIM:615222
HP:0009811	Abnormality of the elbow	6999	TDO2	OMIM:600627
HP:0009811	Abnormality of the elbow	2316	FLNA	OMIM:309350
HP:0009811	Abnormality of the elbow	2316	FLNA	OMIM:311300
HP:0009811	Abnormality of the elbow	55012	PPP2R3C	OMIM:618419
HP:0009811	Abnormality of the elbow	200734	SPRED2	OMIM:619745
HP:0009811	Abnormality of the elbow	3930	LBR	OMIM:618019
HP:0009811	Abnormality of the elbow	5116	PCNT	OMIM:210720
HP:0009811	Abnormality of the elbow	9244	CRLF1	OMIM:272430
HP:0009811	Abnormality of the elbow	157570	ESCO2	OMIM:216100
HP:0009811	Abnormality of the elbow	54808	DYM	ORPHA:239
HP:0009811	Abnormality of the elbow	64374	SIL1	OMIM:248800
HP:0009811	Abnormality of the elbow	8036	SHOC2	OMIM:607721
HP:0009811	Abnormality of the elbow	157680	VPS13B	ORPHA:193
HP:0009811	Abnormality of the elbow	157680	VPS13B	OMIM:216550
HP:0009811	Abnormality of the elbow	8216	LZTR1	OMIM:616564
HP:0009811	Abnormality of the elbow	8216	LZTR1	OMIM:605275
HP:0009811	Abnormality of the elbow	3572	IL6ST	OMIM:619750
HP:0009811	Abnormality of the elbow	54361	WNT4	ORPHA:247768
HP:0009811	Abnormality of the elbow	5828	PEX2	OMIM:614866
HP:0009811	Abnormality of the elbow	5894	RAF1	OMIM:611554
HP:0009811	Abnormality of the elbow	5894	RAF1	OMIM:611553
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:115150
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:613707
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:613706
HP:0009811	Abnormality of the elbow	673	BRAF	ORPHA:1340
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:163950
HP:0009811	Abnormality of the elbow	57122	NUP107	OMIM:618348
HP:0009811	Abnormality of the elbow	5830	PEX5	OMIM:214110
HP:0009811	Abnormality of the elbow	55027	HEATR3	OMIM:620072
HP:0009811	Abnormality of the elbow	8450	CUL4B	ORPHA:85293
HP:0009811	Abnormality of the elbow	55717	WDR11	OMIM:620237
HP:0009811	Abnormality of the elbow	5189	PEX1	OMIM:214100
HP:0009811	Abnormality of the elbow	4763	NF1	OMIM:601321
HP:0009811	Abnormality of the elbow	10940	POP1	OMIM:617396
HP:0009811	Abnormality of the elbow	8242	KDM5C	OMIM:300534
HP:0009811	Abnormality of the elbow	54496	PRMT7	OMIM:617157
HP:0009811	Abnormality of the elbow	92255	LMBRD2	OMIM:619694
HP:0009811	Abnormality of the elbow	54880	BCOR	ORPHA:2712
HP:0009811	Abnormality of the elbow	10381	TUBB3	ORPHA:300570
HP:0009811	Abnormality of the elbow	5604	MAP2K1	ORPHA:1340
HP:0009811	Abnormality of the elbow	5604	MAP2K1	OMIM:163950
HP:0009811	Abnormality of the elbow	5605	MAP2K2	ORPHA:1340
HP:0009811	Abnormality of the elbow	3845	KRAS	ORPHA:1340
HP:0009811	Abnormality of the elbow	444	ASPH	OMIM:601552
HP:0009811	Abnormality of the elbow	5566	PRKACA	ORPHA:289
HP:0009811	Abnormality of the elbow	5567	PRKACB	ORPHA:289
HP:0009811	Abnormality of the elbow	2735	GLI1	ORPHA:289
HP:0009811	Abnormality of the elbow	2121	EVC	ORPHA:289
HP:0009811	Abnormality of the elbow	51626	DYNC2LI1	ORPHA:289
HP:0009811	Abnormality of the elbow	132884	EVC2	ORPHA:289
HP:0009811	Abnormality of the elbow	5718	PSMD12	ORPHA:529962
HP:0009811	Abnormality of the elbow	2186	BPTF	ORPHA:529962
HP:0009811	Abnormality of the elbow	867	CBL	OMIM:613563
HP:0009811	Abnormality of the elbow	23395	LARS2	OMIM:615300
HP:0009811	Abnormality of the elbow	6736	SRY	ORPHA:1772
HP:0009811	Abnormality of the elbow	6654	SOS1	OMIM:610733
HP:0009811	Abnormality of the elbow	2697	GJA1	OMIM:164200
HP:0009811	Abnormality of the elbow	11160	ERLIN2	ORPHA:280384
HP:0009811	Abnormality of the elbow	11160	ERLIN2	ORPHA:209951
HP:0009811	Abnormality of the elbow	4921	DDR2	OMIM:271665
HP:0009811	Abnormality of the elbow	4921	DDR2	OMIM:618175
HP:0009811	Abnormality of the elbow	57190	SELENON	ORPHA:97244
HP:0009811	Abnormality of the elbow	57190	SELENON	ORPHA:2020
HP:0009811	Abnormality of the elbow	58	ACTA1	ORPHA:97244
HP:0009811	Abnormality of the elbow	58	ACTA1	ORPHA:2020
HP:0009811	Abnormality of the elbow	83932	SPRTN	OMIM:616200
HP:0009811	Abnormality of the elbow	5352	PLOD2	OMIM:609220
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:75840
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:536516
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:610
HP:0009811	Abnormality of the elbow	1291	COL6A1	ORPHA:75840
HP:0009811	Abnormality of the elbow	1291	COL6A1	ORPHA:610
HP:0009811	Abnormality of the elbow	1291	COL6A1	OMIM:158810
HP:0009811	Abnormality of the elbow	1292	COL6A2	ORPHA:75840
HP:0009811	Abnormality of the elbow	1292	COL6A2	ORPHA:610
HP:0009811	Abnormality of the elbow	1292	COL6A2	OMIM:158810
HP:0009811	Abnormality of the elbow	1293	COL6A3	ORPHA:75840
HP:0009811	Abnormality of the elbow	1293	COL6A3	ORPHA:610
HP:0009811	Abnormality of the elbow	1293	COL6A3	OMIM:158810
HP:0009811	Abnormality of the elbow	4000	LMNA	OMIM:181350
HP:0009811	Abnormality of the elbow	4000	LMNA	OMIM:248370
HP:0009811	Abnormality of the elbow	4000	LMNA	OMIM:616516
HP:0009811	Abnormality of the elbow	4000	LMNA	ORPHA:98855
HP:0009811	Abnormality of the elbow	4000	LMNA	ORPHA:98853
HP:0009811	Abnormality of the elbow	6840	SVIL	OMIM:619040
HP:0009811	Abnormality of the elbow	55315	SLC29A3	OMIM:602782
HP:0009811	Abnormality of the elbow	825	CAPN3	ORPHA:267
HP:0009811	Abnormality of the elbow	3714	JAG2	OMIM:619566
HP:0009811	Abnormality of the elbow	6536	SLC6A9	OMIM:617301
HP:0009811	Abnormality of the elbow	5831	PYCR1	OMIM:614438
HP:0009811	Abnormality of the elbow	4621	MYH3	OMIM:193700
HP:0009811	Abnormality of the elbow	4621	MYH3	OMIM:178110
HP:0009811	Abnormality of the elbow	2010	EMD	OMIM:310300
HP:0009811	Abnormality of the elbow	2010	EMD	ORPHA:98863
HP:0009811	Abnormality of the elbow	5351	PLOD1	ORPHA:1900
HP:0009811	Abnormality of the elbow	7020	TFAP2A	OMIM:113620
HP:0009811	Abnormality of the elbow	6926	TBX3	OMIM:181450
HP:0009811	Abnormality of the elbow	4633	MYL2	ORPHA:2020
HP:0009811	Abnormality of the elbow	3679	ITGA7	ORPHA:2020
HP:0009811	Abnormality of the elbow	7169	TPM2	ORPHA:2020
HP:0009811	Abnormality of the elbow	7169	TPM2	OMIM:108120
HP:0009811	Abnormality of the elbow	9200	HACD1	ORPHA:2020
HP:0009811	Abnormality of the elbow	7170	TPM3	ORPHA:2020
HP:0009811	Abnormality of the elbow	51776	MAP3K20	ORPHA:2020
HP:0009811	Abnormality of the elbow	3977	LIFR	OMIM:601559
HP:0009811	Abnormality of the elbow	3977	LIFR	ORPHA:3206
HP:0009811	Abnormality of the elbow	127833	SYT2	OMIM:619461
HP:0009811	Abnormality of the elbow	54681	P4HTM	OMIM:618493
HP:0009811	Abnormality of the elbow	5277	PIGA	OMIM:300868
HP:0009811	Abnormality of the elbow	8985	PLOD3	OMIM:612394
HP:0009811	Abnormality of the elbow	3908	LAMA2	OMIM:618138
HP:0009811	Abnormality of the elbow	2783	GNB2	OMIM:619503
HP:0009811	Abnormality of the elbow	4632	MYL1	OMIM:618414
HP:0009811	Abnormality of the elbow	2074	ERCC6	OMIM:214150
HP:0009811	Abnormality of the elbow	9653	HS2ST1	OMIM:619194
HP:0009811	Abnormality of the elbow	9051	PSTPIP1	OMIM:604416
HP:0009811	Abnormality of the elbow	59341	TRPV4	OMIM:600175
HP:0009811	Abnormality of the elbow	59341	TRPV4	OMIM:184252
HP:0009811	Abnormality of the elbow	84065	TMEM222	OMIM:619470
HP:0009811	Abnormality of the elbow	6628	SNRPB	OMIM:117650
HP:0009811	Abnormality of the elbow	29895	MYL11	OMIM:619110
HP:0009811	Abnormality of the elbow	340419	RSPO2	OMIM:618022
HP:0009811	Abnormality of the elbow	1861	TOR1A	OMIM:618947
HP:0009811	Abnormality of the elbow	259232	NALCN	ORPHA:371364
HP:0009811	Abnormality of the elbow	259232	NALCN	OMIM:616266
HP:0009811	Abnormality of the elbow	285175	UNC80	ORPHA:371364
HP:0009811	Abnormality of the elbow	84992	PIGY	OMIM:616809
HP:0009811	Abnormality of the elbow	2222	FDFT1	OMIM:618156
HP:0009811	Abnormality of the elbow	163175	LGI4	OMIM:617468
HP:0009811	Abnormality of the elbow	60681	FKBP10	OMIM:259450
HP:0009811	Abnormality of the elbow	2799	GNS	OMIM:252940
HP:0009811	Abnormality of the elbow	9215	LARGE1	OMIM:608840
HP:0009811	Abnormality of the elbow	1376	CPT2	OMIM:608836
HP:0009811	Abnormality of the elbow	342035	GLDN	OMIM:617194
HP:0009811	Abnormality of the elbow	339855	KY	OMIM:617114
HP:0009811	Abnormality of the elbow	5286	PIK3C2A	OMIM:618440
HP:0009811	Abnormality of the elbow	7317	UBA1	ORPHA:1145
HP:0009811	Abnormality of the elbow	23219	FBXO28	OMIM:619777
HP:0009811	Abnormality of the elbow	55681	SCYL2	ORPHA:1143
HP:0009811	Abnormality of the elbow	84570	COL25A1	ORPHA:1143
HP:0009811	Abnormality of the elbow	57222	ERGIC1	ORPHA:1143
HP:0009811	Abnormality of the elbow	64116	SLC39A8	ORPHA:468699
HP:0009811	Abnormality of the elbow	5832	ALDH18A1	ORPHA:447757
HP:0009811	Abnormality of the elbow	91137	SLC25A46	OMIM:619303
HP:0009811	Abnormality of the elbow	2706	GJB2	OMIM:148210
HP:0009811	Abnormality of the elbow	5696	PSMB8	OMIM:256040
HP:0009811	Abnormality of the elbow	1756	DMD	ORPHA:206546
HP:0009811	Abnormality of the elbow	79188	TMEM43	ORPHA:98853
HP:0009811	Abnormality of the elbow	23345	SYNE1	ORPHA:98853
HP:0009811	Abnormality of the elbow	23224	SYNE2	ORPHA:98853
HP:0009811	Abnormality of the elbow	203859	ANO5	ORPHA:206549
HP:0009811	Abnormality of the elbow	2137	EXTL3	ORPHA:508533
HP:0009811	Abnormality of the elbow	8243	SMC1A	OMIM:300590
HP:0009811	Abnormality of the elbow	6399	TRAPPC2	ORPHA:93284
HP:0009811	Abnormality of the elbow	145173	B3GLCT	OMIM:261540
HP:0009811	Abnormality of the elbow	57167	SALL4	OMIM:147750
HP:0009811	Abnormality of the elbow	8815	BANF1	OMIM:614008
HP:0009811	Abnormality of the elbow	6885	MAP3K7	ORPHA:1826
HP:0009811	Abnormality of the elbow	6473	SHOX	OMIM:127300
HP:0009811	Abnormality of the elbow	8291	DYSF	ORPHA:268
HP:0009811	Abnormality of the elbow	9401	RECQL4	OMIM:218600
HP:0009811	Abnormality of the elbow	5781	PTPN11	OMIM:151100
HP:0009811	Abnormality of the elbow	9427	ECEL1	OMIM:615065
HP:0009811	Abnormality of the elbow	3265	HRAS	OMIM:218040
HP:0009811	Abnormality of the elbow	2273	FHL1	OMIM:300280
HP:0009811	Abnormality of the elbow	9126	SMC3	OMIM:610759
HP:0009811	Abnormality of the elbow	4054	LTBP3	OMIM:617809
HP:0009811	Abnormality of the elbow	56603	CYP26B1	OMIM:614416
HP:0009811	Abnormality of the elbow	2254	FGF9	OMIM:612961
HP:0009811	Abnormality of the elbow	29980	DONSON	OMIM:251230
HP:0009811	Abnormality of the elbow	23476	BRD4	ORPHA:199
HP:0009811	Abnormality of the elbow	5885	RAD21	ORPHA:199
HP:0009811	Abnormality of the elbow	1857	DVL3	ORPHA:3107
HP:0009811	Abnormality of the elbow	347734	SLC35B2	OMIM:620269
HP:0009811	Abnormality of the elbow	9555	MACROH2A1	ORPHA:1275
HP:0009811	Abnormality of the elbow	5307	PITX1	ORPHA:1275
HP:0009811	Abnormality of the elbow	4038	LRP4	ORPHA:3258
HP:0009811	Abnormality of the elbow	324	APC	ORPHA:3258
HP:0009811	Abnormality of the elbow	3187	HNRNPH1	OMIM:620083
HP:0009811	Abnormality of the elbow	4998	ORC1	OMIM:224690
HP:0009811	Abnormality of the elbow	4998	ORC1	ORPHA:2554
HP:0009811	Abnormality of the elbow	64359	NXN	ORPHA:1507
HP:0009811	Abnormality of the elbow	4920	ROR2	ORPHA:1507
HP:0009811	Abnormality of the elbow	81620	CDT1	ORPHA:2554
HP:0009811	Abnormality of the elbow	5000	ORC4	ORPHA:2554
HP:0009811	Abnormality of the elbow	23594	ORC6	ORPHA:2554
HP:0009811	Abnormality of the elbow	8318	CDC45	ORPHA:2554
HP:0009811	Abnormality of the elbow	990	CDC6	ORPHA:2554
HP:0009811	Abnormality of the elbow	990	CDC6	OMIM:613805
HP:0009811	Abnormality of the elbow	51053	GMNN	ORPHA:2554
HP:0009811	Abnormality of the elbow	64131	XYLT1	ORPHA:1425
HP:0009811	Abnormality of the elbow	124583	CANT1	ORPHA:1425
HP:0009811	Abnormality of the elbow	3339	HSPG2	ORPHA:800
HP:0009811	Abnormality of the elbow	64093	SMOC1	ORPHA:1106
HP:0009811	Abnormality of the elbow	6497	SKI	ORPHA:2462
HP:0009811	Abnormality of the elbow	165	AEBP1	ORPHA:536532
HP:0009811	Abnormality of the elbow	2260	FGFR1	OMIM:101600
HP:0009811	Abnormality of the elbow	9791	PTDSS1	ORPHA:2658
HP:0009811	Abnormality of the elbow	9241	NOG	ORPHA:3250
HP:0009811	Abnormality of the elbow	8200	GDF5	ORPHA:3250
HP:0009811	Abnormality of the elbow	7476	WNT7A	OMIM:276820
HP:0009811	Abnormality of the elbow	4593	MUSK	OMIM:208150
HP:0009811	Abnormality of the elbow	11285	B4GALT7	OMIM:130070
HP:0009811	Abnormality of the elbow	1182	CLCN3	OMIM:619512
HP:0009811	Abnormality of the elbow	1387	CREBBP	OMIM:180849
HP:0009811	Abnormality of the elbow	2033	EP300	OMIM:180849
HP:0009811	Abnormality of the elbow	145258	GSC	OMIM:602471
HP:0009811	Abnormality of the elbow	10847	SRCAP	OMIM:136140
HP:0009811	Abnormality of the elbow	10847	SRCAP	ORPHA:2044
HP:0009811	Abnormality of the elbow	91179	SCARF2	OMIM:600920
HP:0009811	Abnormality of the elbow	6662	SOX9	OMIM:114290
HP:0009811	Abnormality of the elbow	10225	CD96	OMIM:211750
HP:0009811	Abnormality of the elbow	10225	CD96	ORPHA:1308
HP:0009811	Abnormality of the elbow	2067	ERCC1	OMIM:610758
HP:0009811	Abnormality of the elbow	1146	CHRNG	OMIM:265000
HP:0009811	Abnormality of the elbow	3835	KIF22	OMIM:603546
HP:0009811	Abnormality of the elbow	57492	ARID1B	OMIM:135900
HP:0009811	Abnormality of the elbow	3899	AFF3	OMIM:619297
HP:0009811	Abnormality of the elbow	4853	NOTCH2	OMIM:102500
HP:0009811	Abnormality of the elbow	1277	COL1A1	ORPHA:287
HP:0009811	Abnormality of the elbow	1289	COL5A1	ORPHA:287
HP:0009811	Abnormality of the elbow	1290	COL5A2	ORPHA:287
HP:0009811	Abnormality of the elbow	3897	L1CAM	OMIM:304100
HP:0009811	Abnormality of the elbow	91252	SLC39A13	OMIM:612350
HP:0009811	Abnormality of the elbow	545	ATR	OMIM:210600
HP:0009811	Abnormality of the elbow	649	BMP1	OMIM:614856
HP:0009811	Abnormality of the elbow	5573	PRKAR1A	OMIM:101800
HP:0009811	Abnormality of the elbow	341208	HEPHL1	OMIM:261990
HP:0009811	Abnormality of the elbow	10216	PRG4	ORPHA:2848
HP:0009811	Abnormality of the elbow	5167	ENPP1	ORPHA:51608
HP:0009811	Abnormality of the elbow	368	ABCC6	ORPHA:51608
HP:0009811	Abnormality of the elbow	6913	TBX15	ORPHA:93333
HP:0009811	Abnormality of the elbow	2887	GRB10	ORPHA:96182
HP:0009811	Abnormality of the elbow	1297	COL9A1	ORPHA:166002
HP:0009811	Abnormality of the elbow	1298	COL9A2	ORPHA:166002
HP:0009811	Abnormality of the elbow	26229	B3GAT3	OMIM:245600
HP:0009811	Abnormality of the elbow	9935	MAFB	OMIM:166300
HP:0009811	Abnormality of the elbow	51305	KCNK9	ORPHA:166108
HP:0009811	Abnormality of the elbow	9968	MED12	ORPHA:93932
HP:0009811	Abnormality of the elbow	7474	WNT5A	OMIM:180700
HP:0009811	Abnormality of the elbow	1855	DVL1	OMIM:180700
HP:0009811	Abnormality of the elbow	5745	PTH1R	ORPHA:79106
HP:0009811	Abnormality of the elbow	9499	MYOT	ORPHA:266
HP:0009811	Abnormality of the elbow	2535	FZD2	OMIM:164745
HP:0009811	Abnormality of the elbow	1836	SLC26A2	OMIM:226900
HP:0009811	Abnormality of the elbow	4233	MET	OMIM:620019
HP:0009811	Abnormality of the elbow	4091	SMAD6	OMIM:179300
HP:0009811	Abnormality of the elbow	10584	COLEC10	ORPHA:293843
HP:0009811	Abnormality of the elbow	5648	MASP1	ORPHA:293843
HP:0009811	Abnormality of the elbow	78989	COLEC11	ORPHA:293843
HP:0009811	Abnormality of the elbow	2122	MECOM	OMIM:616738
HP:0009811	Abnormality of the elbow	3207	HOXA11	OMIM:605432
HP:0009811	Abnormality of the elbow	387733	IFITM5	OMIM:610967
HP:0009811	Abnormality of the elbow	9469	CHST3	OMIM:143095
HP:0009811	Abnormality of the elbow	6812	STXBP1	ORPHA:495818
HP:0009811	Abnormality of the elbow	171023	ASXL1	ORPHA:97297
HP:0009811	Abnormality of the elbow	427	ASAH1	ORPHA:333
HP:0009811	Abnormality of the elbow	1593	CYP27A1	ORPHA:909
HP:0009811	Abnormality of the elbow	2733	GLE1	ORPHA:1486
HP:0009811	Abnormality of the elbow	9820	CUL7	ORPHA:2616
HP:0009811	Abnormality of the elbow	23363	OBSL1	ORPHA:2616
HP:0009811	Abnormality of the elbow	83987	CCDC8	ORPHA:2616
HP:0009811	Abnormality of the elbow	3425	IDUA	ORPHA:93473
HP:0009811	Abnormality of the elbow	4297	KMT2A	ORPHA:319182
HP:0009811	Abnormality of the elbow	1294	COL7A1	ORPHA:158673
HP:0009811	Abnormality of the elbow	1294	COL7A1	ORPHA:89843
HP:0009811	Abnormality of the elbow	8838	CCN6	ORPHA:1159
HP:0009811	Abnormality of the elbow	5500	PPP1CB	ORPHA:2701
HP:0009811	Abnormality of the elbow	2690	GHR	ORPHA:633
HP:0009811	Abnormality of the elbow	2588	GALNS	OMIM:253000
HP:0009813	Upper limb phocomelia	64327	LMBR1	ORPHA:931
HP:0009814	Upper limb peromelia	1009	CDH11	ORPHA:1299
HP:0002651	Spondyloepimetaphyseal dysplasia	4148	MATN3	OMIM:608728
HP:0002651	Spondyloepimetaphyseal dysplasia	4921	DDR2	OMIM:271665
HP:0002651	Spondyloepimetaphyseal dysplasia	4322	MMP13	OMIM:602111
HP:0002651	Spondyloepimetaphyseal dysplasia	3835	KIF22	ORPHA:93360
HP:0002651	Spondyloepimetaphyseal dysplasia	3835	KIF22	OMIM:603546
HP:0002651	Spondyloepimetaphyseal dysplasia	126792	B3GALT6	ORPHA:536467
HP:0002651	Spondyloepimetaphyseal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002651	Spondyloepimetaphyseal dysplasia	65992	DDRGK1	OMIM:602557
HP:0002651	Spondyloepimetaphyseal dysplasia	9131	AIFM1	OMIM:300232
HP:0002651	Spondyloepimetaphyseal dysplasia	633	BGN	OMIM:300106
HP:0002651	Spondyloepimetaphyseal dysplasia	1280	COL2A1	OMIM:184250
HP:0002651	Spondyloepimetaphyseal dysplasia	23233	EXOC6B	OMIM:618395
HP:0002651	Spondyloepimetaphyseal dysplasia	89970	RSPRY1	ORPHA:457395
HP:0002651	Spondyloepimetaphyseal dysplasia	55699	IARS2	OMIM:616007
HP:0002651	Spondyloepimetaphyseal dysplasia	54187	NANS	OMIM:610442
HP:0002651	Spondyloepimetaphyseal dysplasia	9060	PAPSS2	OMIM:612847
HP:0002651	Spondyloepimetaphyseal dysplasia	176	ACAN	OMIM:612813
HP:0002651	Spondyloepimetaphyseal dysplasia	4796	TONSL	OMIM:271510
HP:0002651	Spondyloepimetaphyseal dysplasia	54808	DYM	ORPHA:239
HP:0002652	Skeletal dysplasia	4148	MATN3	OMIM:608728
HP:0002652	Skeletal dysplasia	4921	DDR2	OMIM:271665
HP:0002652	Skeletal dysplasia	4322	MMP13	OMIM:602111
HP:0002652	Skeletal dysplasia	126792	B3GALT6	ORPHA:536467
HP:0002652	Skeletal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002652	Skeletal dysplasia	65992	DDRGK1	OMIM:602557
HP:0002652	Skeletal dysplasia	9131	AIFM1	OMIM:300232
HP:0002652	Skeletal dysplasia	633	BGN	OMIM:300106
HP:0002652	Skeletal dysplasia	23233	EXOC6B	OMIM:618395
HP:0002652	Skeletal dysplasia	89970	RSPRY1	ORPHA:457395
HP:0002652	Skeletal dysplasia	54187	NANS	OMIM:610442
HP:0002652	Skeletal dysplasia	9060	PAPSS2	OMIM:612847
HP:0002652	Skeletal dysplasia	176	ACAN	OMIM:612813
HP:0002652	Skeletal dysplasia	4796	TONSL	OMIM:271510
HP:0002652	Skeletal dysplasia	2737	GLI3	ORPHA:672
HP:0002652	Skeletal dysplasia	9871	SEC24D	ORPHA:2050
HP:0002652	Skeletal dysplasia	5034	P4HB	ORPHA:2050
HP:0002652	Skeletal dysplasia	2697	GJA1	ORPHA:1522
HP:0002652	Skeletal dysplasia	56172	ANKH	ORPHA:1522
HP:0002652	Skeletal dysplasia	79796	ALG9	OMIM:608776
HP:0002652	Skeletal dysplasia	79796	ALG9	OMIM:263210
HP:0002652	Skeletal dysplasia	79796	ALG9	ORPHA:79328
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:93274
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:429
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:1860
HP:0002652	Skeletal dysplasia	91147	TMEM67	OMIM:602152
HP:0002652	Skeletal dysplasia	91147	TMEM67	ORPHA:140976
HP:0002652	Skeletal dysplasia	5745	PTH1R	OMIM:600002
HP:0002652	Skeletal dysplasia	1836	SLC26A2	ORPHA:93307
HP:0002652	Skeletal dysplasia	224	ALDH3A2	ORPHA:816
HP:0002652	Skeletal dysplasia	5728	PTEN	ORPHA:2969
HP:0002652	Skeletal dysplasia	5728	PTEN	ORPHA:744
HP:0002652	Skeletal dysplasia	4758	NEU1	ORPHA:812
HP:0002652	Skeletal dysplasia	3764	KCNJ8	ORPHA:1517
HP:0002652	Skeletal dysplasia	10060	ABCC9	ORPHA:1517
HP:0002652	Skeletal dysplasia	2720	GLB1	ORPHA:79255
HP:0002652	Skeletal dysplasia	4072	EPCAM	ORPHA:92050
HP:0002652	Skeletal dysplasia	105371045	PERCC1	ORPHA:92050
HP:0002652	Skeletal dysplasia	65082	VPS33A	ORPHA:505248
HP:0002652	Skeletal dysplasia	6023	RMRP	ORPHA:175
HP:0002652	Skeletal dysplasia	10484	SEC23A	ORPHA:50814
HP:0002652	Skeletal dysplasia	3549	IHH	ORPHA:63446
HP:0002652	Skeletal dysplasia	284058	KANSL1	ORPHA:363958
HP:0002652	Skeletal dysplasia	284058	KANSL1	ORPHA:363965
HP:0002652	Skeletal dysplasia	55699	IARS2	ORPHA:436174
HP:0002652	Skeletal dysplasia	2260	FGFR1	ORPHA:2396
HP:0002652	Skeletal dysplasia	2260	FGFR1	ORPHA:478
HP:0002652	Skeletal dysplasia	3845	KRAS	ORPHA:2396
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:90653
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:85166
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:93296
HP:0002652	Skeletal dysplasia	860	RUNX2	ORPHA:1452
HP:0002652	Skeletal dysplasia	1001	CDH3	ORPHA:1573
HP:0002652	Skeletal dysplasia	114548	NLRP3	ORPHA:1451
HP:0002652	Skeletal dysplasia	79633	FAT4	OMIM:615546
HP:0002652	Skeletal dysplasia	8642	DCHS1	OMIM:601390
HP:0002652	Skeletal dysplasia	4853	NOTCH2	ORPHA:955
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:90650
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:90652
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:1826
HP:0002652	Skeletal dysplasia	11285	B4GALT7	ORPHA:75496
HP:0002652	Skeletal dysplasia	55112	DYNC2I1	ORPHA:474
HP:0002652	Skeletal dysplasia	26160	IFT172	ORPHA:474
HP:0002652	Skeletal dysplasia	153241	CEP120	ORPHA:474
HP:0002652	Skeletal dysplasia	57560	IFT80	ORPHA:474
HP:0002652	Skeletal dysplasia	51626	DYNC2LI1	ORPHA:474
HP:0002652	Skeletal dysplasia	79659	DYNC2H1	ORPHA:474
HP:0002652	Skeletal dysplasia	9742	IFT140	ORPHA:474
HP:0002652	Skeletal dysplasia	57728	WDR19	ORPHA:474
HP:0002652	Skeletal dysplasia	89891	DYNC2I2	ORPHA:474
HP:0002652	Skeletal dysplasia	79809	TTC21B	ORPHA:474
HP:0002652	Skeletal dysplasia	3835	KIF22	ORPHA:93360
HP:0002652	Skeletal dysplasia	5476	CTSA	ORPHA:351
HP:0002652	Skeletal dysplasia	6608	SMO	OMIM:241800
HP:0002652	Skeletal dysplasia	8200	GDF5	ORPHA:2098
HP:0002652	Skeletal dysplasia	658	BMPR1B	ORPHA:2098
HP:0002652	Skeletal dysplasia	7305	TYROBP	ORPHA:2770
HP:0002652	Skeletal dysplasia	54209	TREM2	ORPHA:2770
HP:0002652	Skeletal dysplasia	3425	IDUA	ORPHA:93473
HP:0002652	Skeletal dysplasia	3425	IDUA	ORPHA:93476
HP:0002652	Skeletal dysplasia	7040	TGFB1	ORPHA:1328
HP:0002652	Skeletal dysplasia	207	AKT1	ORPHA:744
HP:0002652	Skeletal dysplasia	84172	POLR1B	ORPHA:861
HP:0002652	Skeletal dysplasia	9533	POLR1C	ORPHA:861
HP:0002652	Skeletal dysplasia	51082	POLR1D	ORPHA:861
HP:0002652	Skeletal dysplasia	6949	TCOF1	ORPHA:861
HP:0002652	Skeletal dysplasia	5264	PHYH	ORPHA:773
HP:0002652	Skeletal dysplasia	5191	PEX7	ORPHA:773
HP:0002652	Skeletal dysplasia	1758	DMP1	ORPHA:289176
HP:0002652	Skeletal dysplasia	5167	ENPP1	ORPHA:289176
HP:0002652	Skeletal dysplasia	3977	LIFR	ORPHA:3206
HP:0002652	Skeletal dysplasia	59341	TRPV4	ORPHA:2635
HP:0002652	Skeletal dysplasia	6885	MAP3K7	ORPHA:1826
HP:0002652	Skeletal dysplasia	29929	ALG6	ORPHA:79320
HP:0002652	Skeletal dysplasia	23592	LEMD3	ORPHA:1306
HP:0002652	Skeletal dysplasia	3339	HSPG2	ORPHA:800
HP:0002652	Skeletal dysplasia	71	ACTG1	ORPHA:2995
HP:0002652	Skeletal dysplasia	60	ACTB	ORPHA:2995
HP:0002652	Skeletal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0002652	Skeletal dysplasia	10262	SF3B4	ORPHA:245
HP:0002652	Skeletal dysplasia	91252	SLC39A13	ORPHA:157965
HP:0002652	Skeletal dysplasia	55670	PEX26	ORPHA:912
HP:0002652	Skeletal dysplasia	5824	PEX19	ORPHA:912
HP:0002652	Skeletal dysplasia	5828	PEX2	ORPHA:912
HP:0002652	Skeletal dysplasia	8504	PEX3	ORPHA:912
HP:0002652	Skeletal dysplasia	8799	PEX11B	ORPHA:912
HP:0002652	Skeletal dysplasia	9409	PEX16	ORPHA:912
HP:0002652	Skeletal dysplasia	5190	PEX6	ORPHA:912
HP:0002652	Skeletal dysplasia	5830	PEX5	ORPHA:912
HP:0002652	Skeletal dysplasia	5189	PEX1	ORPHA:912
HP:0002652	Skeletal dysplasia	5193	PEX12	ORPHA:912
HP:0002652	Skeletal dysplasia	5194	PEX13	ORPHA:912
HP:0002652	Skeletal dysplasia	5195	PEX14	ORPHA:912
HP:0002652	Skeletal dysplasia	5192	PEX10	ORPHA:912
HP:0002652	Skeletal dysplasia	2778	GNAS	ORPHA:57782
HP:0002652	Skeletal dysplasia	10371	SEMA3A	ORPHA:478
HP:0002652	Skeletal dysplasia	81848	SPRY4	ORPHA:478
HP:0002652	Skeletal dysplasia	23767	FLRT3	ORPHA:478
HP:0002652	Skeletal dysplasia	128674	PROKR2	ORPHA:478
HP:0002652	Skeletal dysplasia	79625	NDNF	ORPHA:478
HP:0002652	Skeletal dysplasia	2253	FGF8	ORPHA:478
HP:0002652	Skeletal dysplasia	389549	FEZF1	ORPHA:478
HP:0002652	Skeletal dysplasia	1630	DCC	ORPHA:478
HP:0002652	Skeletal dysplasia	3730	ANOS1	ORPHA:478
HP:0002652	Skeletal dysplasia	54756	IL17RD	ORPHA:478
HP:0002652	Skeletal dysplasia	6663	SOX10	ORPHA:478
HP:0002652	Skeletal dysplasia	285025	CCDC141	ORPHA:478
HP:0002652	Skeletal dysplasia	60675	PROK2	ORPHA:478
HP:0002652	Skeletal dysplasia	55636	CHD7	ORPHA:478
HP:0002652	Skeletal dysplasia	1848	DUSP6	ORPHA:478
HP:0002652	Skeletal dysplasia	6870	TACR3	ORPHA:478
HP:0002652	Skeletal dysplasia	55717	WDR11	ORPHA:478
HP:0002652	Skeletal dysplasia	9394	HS6ST1	ORPHA:478
HP:0002652	Skeletal dysplasia	8820	HESX1	ORPHA:478
HP:0002652	Skeletal dysplasia	8822	FGF17	ORPHA:478
HP:0002652	Skeletal dysplasia	54808	DYM	ORPHA:239
HP:0002652	Skeletal dysplasia	1281	COL3A1	ORPHA:2500
HP:0002652	Skeletal dysplasia	6134	RPL10	OMIM:300998
HP:0002652	Skeletal dysplasia	6134	RPL10	ORPHA:459070
HP:0002652	Skeletal dysplasia	9469	CHST3	OMIM:143095
HP:0002652	Skeletal dysplasia	64802	NMNAT1	OMIM:619260
HP:0002652	Skeletal dysplasia	8720	MBTPS1	OMIM:618392
HP:0002652	Skeletal dysplasia	50485	SMARCAL1	ORPHA:1830
HP:0002652	Skeletal dysplasia	50485	SMARCAL1	OMIM:242900
HP:0002652	Skeletal dysplasia	8838	CCN6	ORPHA:1159
HP:0002652	Skeletal dysplasia	50628	GEMIN4	OMIM:617913
HP:0002652	Skeletal dysplasia	64131	XYLT1	OMIM:615777
HP:0002652	Skeletal dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002652	Skeletal dysplasia	100151683	RNU4ATAC	ORPHA:1824
HP:0002652	Skeletal dysplasia	124583	CANT1	OMIM:617719
HP:0002652	Skeletal dysplasia	2317	FLNB	OMIM:272460
HP:0002652	Skeletal dysplasia	1302	COL11A2	ORPHA:1427
HP:0002652	Skeletal dysplasia	1302	COL11A2	OMIM:184840
HP:0002652	Skeletal dysplasia	1302	COL11A2	OMIM:215150
HP:0002652	Skeletal dysplasia	411	ARSB	OMIM:253200
HP:0002652	Skeletal dysplasia	1298	COL9A2	OMIM:600204
HP:0002652	Skeletal dysplasia	1298	COL9A2	ORPHA:250984
HP:0002652	Skeletal dysplasia	1311	COMP	OMIM:132400
HP:0002652	Skeletal dysplasia	1299	COL9A3	OMIM:600969
HP:0002652	Skeletal dysplasia	1299	COL9A3	ORPHA:250984
HP:0002652	Skeletal dysplasia	3313	HSPA9	OMIM:616854
HP:0002652	Skeletal dysplasia	1806	DPYD	ORPHA:1675
HP:0002652	Skeletal dysplasia	2137	EXTL3	OMIM:617425
HP:0002652	Skeletal dysplasia	1297	COL9A1	OMIM:614134
HP:0002652	Skeletal dysplasia	1297	COL9A1	ORPHA:250984
HP:0002652	Skeletal dysplasia	1301	COL11A1	ORPHA:250984
HP:0002652	Skeletal dysplasia	84695	LOXL3	ORPHA:250984
HP:0002652	Skeletal dysplasia	4882	NPR2	OMIM:615923
HP:0002652	Skeletal dysplasia	1028	CDKN1C	OMIM:614732
HP:0002652	Skeletal dysplasia	2799	GNS	OMIM:252940
HP:0002652	Skeletal dysplasia	374654	KIF7	OMIM:607131
HP:0002652	Skeletal dysplasia	4054	LTBP3	OMIM:617809
HP:0002652	Skeletal dysplasia	2335	FN1	OMIM:184255
HP:0002652	Skeletal dysplasia	51025	PAM16	OMIM:613320
HP:0002652	Skeletal dysplasia	755	CFAP410	OMIM:602271
HP:0002652	Skeletal dysplasia	5130	PCYT1A	OMIM:608940
HP:0002652	Skeletal dysplasia	3930	LBR	OMIM:215140
HP:0002652	Skeletal dysplasia	57539	WDR35	ORPHA:93271
HP:0002652	Skeletal dysplasia	9321	TRIP11	ORPHA:93299
HP:0002652	Skeletal dysplasia	9401	RECQL4	ORPHA:221016
HP:0002652	Skeletal dysplasia	6399	TRAPPC2	ORPHA:93284
HP:0002652	Skeletal dysplasia	246329	STAC3	OMIM:255995
HP:0002652	Skeletal dysplasia	64682	ANAPC1	ORPHA:221008
HP:0002652	Skeletal dysplasia	1300	COL10A1	OMIM:156500
HP:0002652	Skeletal dysplasia	51119	SBDS	OMIM:260400
HP:0002652	Skeletal dysplasia	51119	SBDS	ORPHA:811
HP:0002652	Skeletal dysplasia	134218	DNAJC21	OMIM:260400
HP:0002652	Skeletal dysplasia	134218	DNAJC21	ORPHA:811
HP:0002652	Skeletal dysplasia	6729	SRP54	OMIM:260400
HP:0002652	Skeletal dysplasia	6729	SRP54	ORPHA:811
HP:0002652	Skeletal dysplasia	2879	GPX4	ORPHA:93317
HP:0002652	Skeletal dysplasia	10013	HDAC6	ORPHA:163966
HP:0002652	Skeletal dysplasia	10283	CWC27	OMIM:250410
HP:0002652	Skeletal dysplasia	10283	CWC27	ORPHA:166035
HP:0002652	Skeletal dysplasia	10195	ALG3	ORPHA:79321
HP:0002652	Skeletal dysplasia	79631	EFL1	ORPHA:811
HP:0002652	Skeletal dysplasia	79639	TMEM53	OMIM:619727
HP:0002652	Skeletal dysplasia	55858	TMEM165	OMIM:614727
HP:0002652	Skeletal dysplasia	161742	SPRED1	ORPHA:137605
HP:0002652	Skeletal dysplasia	6916	TBXAS1	OMIM:231095
HP:0002652	Skeletal dysplasia	4763	NF1	ORPHA:97685
HP:0002652	Skeletal dysplasia	9361	LONP1	OMIM:600373
HP:0002652	Skeletal dysplasia	54	ACP5	OMIM:607944
HP:0002652	Skeletal dysplasia	54	ACP5	ORPHA:1855
HP:0002652	Skeletal dysplasia	10940	POP1	OMIM:617396
HP:0002652	Skeletal dysplasia	6424	SFRP4	OMIM:265900
HP:0002652	Skeletal dysplasia	579	NKX3-2	OMIM:613330
HP:0002652	Skeletal dysplasia	79705	LRRK1	OMIM:615198
HP:0002652	Skeletal dysplasia	55325	UFSP2	OMIM:617974
HP:0002652	Skeletal dysplasia	5286	PIK3C2A	ORPHA:557003
HP:0002652	Skeletal dysplasia	5426	POLE	OMIM:618336
HP:0002652	Skeletal dysplasia	5426	POLE	ORPHA:85173
HP:0002652	Skeletal dysplasia	3417	IDH1	ORPHA:99646
HP:0002653	Bone pain	9663	LPIN2	OMIM:609628
HP:0002653	Bone pain	9663	LPIN2	ORPHA:77297
HP:0002653	Bone pain	171023	ASXL1	ORPHA:98850
HP:0002653	Bone pain	171023	ASXL1	ORPHA:98849
HP:0002653	Bone pain	54790	TET2	ORPHA:98850
HP:0002653	Bone pain	54790	TET2	ORPHA:98849
HP:0002653	Bone pain	867	CBL	ORPHA:98850
HP:0002653	Bone pain	861	RUNX1	ORPHA:98850
HP:0002653	Bone pain	6427	SRSF2	ORPHA:98850
HP:0002653	Bone pain	6427	SRSF2	ORPHA:98849
HP:0002653	Bone pain	7421	VDR	ORPHA:93160
HP:0002653	Bone pain	7421	VDR	OMIM:277440
HP:0002653	Bone pain	23592	LEMD3	ORPHA:166119
HP:0002653	Bone pain	23592	LEMD3	ORPHA:1306
HP:0002653	Bone pain	3815	KIT	ORPHA:98849
HP:0002653	Bone pain	10312	TCIRG1	ORPHA:667
HP:0002653	Bone pain	1186	CLCN7	ORPHA:667
HP:0002653	Bone pain	1186	CLCN7	ORPHA:53
HP:0002653	Bone pain	29887	SNX10	ORPHA:667
HP:0002653	Bone pain	8600	TNFSF11	ORPHA:667
HP:0002653	Bone pain	79577	CDC73	ORPHA:143
HP:0002653	Bone pain	79577	CDC73	ORPHA:99880
HP:0002653	Bone pain	8792	TNFRSF11A	OMIM:174810
HP:0002653	Bone pain	8792	TNFRSF11A	OMIM:602080
HP:0002653	Bone pain	1184	CLCN5	OMIM:300009
HP:0002653	Bone pain	1184	CLCN5	OMIM:300554
HP:0002653	Bone pain	23095	KIF1B	OMIM:256700
HP:0002653	Bone pain	3248	HPGD	ORPHA:217059
HP:0002653	Bone pain	3248	HPGD	ORPHA:2796
HP:0002653	Bone pain	120227	CYP2R1	OMIM:600081
HP:0002653	Bone pain	120227	CYP2R1	ORPHA:289157
HP:0002653	Bone pain	2304	FOXE1	ORPHA:319487
HP:0002653	Bone pain	3026	HABP2	ORPHA:319487
HP:0002653	Bone pain	9562	MINPP1	ORPHA:319487
HP:0002653	Bone pain	1991	ELANE	ORPHA:2686
HP:0002653	Bone pain	5251	PHEX	OMIM:307800
HP:0002653	Bone pain	5251	PHEX	ORPHA:89936
HP:0002653	Bone pain	5745	PTH1R	ORPHA:296
HP:0002653	Bone pain	3418	IDH2	ORPHA:296
HP:0002653	Bone pain	3418	IDH2	ORPHA:163634
HP:0002653	Bone pain	3417	IDH1	ORPHA:296
HP:0002653	Bone pain	3417	IDH1	ORPHA:163634
HP:0002653	Bone pain	7132	TNFRSF1A	OMIM:142680
HP:0002653	Bone pain	5426	POLE	OMIM:615139
HP:0002653	Bone pain	6578	SLCO2A1	ORPHA:2796
HP:0002653	Bone pain	2778	GNAS	ORPHA:562
HP:0002653	Bone pain	2778	GNAS	ORPHA:2762
HP:0002653	Bone pain	2778	GNAS	ORPHA:57782
HP:0002653	Bone pain	1175	AP2S1	OMIM:600740
HP:0002653	Bone pain	1594	CYP27B1	OMIM:264700
HP:0002653	Bone pain	1594	CYP27B1	ORPHA:289157
HP:0002653	Bone pain	7010	TEK	ORPHA:1059
HP:0002653	Bone pain	7471	WNT1	ORPHA:85193
HP:0002653	Bone pain	22943	DKK1	ORPHA:85193
HP:0002653	Bone pain	89780	WNT3A	ORPHA:85193
HP:0002653	Bone pain	4853	NOTCH2	ORPHA:955
HP:0002653	Bone pain	5660	PSAP	OMIM:610539
HP:0002653	Bone pain	1588	CYP19A1	ORPHA:91
HP:0002653	Bone pain	8074	FGF23	ORPHA:89937
HP:0002653	Bone pain	8074	FGF23	OMIM:193100
HP:0002653	Bone pain	595	CCND1	ORPHA:29073
HP:0002653	Bone pain	142680	SLC34A3	OMIM:241530
HP:0002653	Bone pain	142680	SLC34A3	ORPHA:157215
HP:0002653	Bone pain	5781	PTPN11	ORPHA:2499
HP:0002653	Bone pain	189	AGXT	OMIM:259900
HP:0002653	Bone pain	540	ATP7B	ORPHA:905
HP:0002653	Bone pain	7305	TYROBP	ORPHA:2770
HP:0002653	Bone pain	54209	TREM2	ORPHA:2770
HP:0002653	Bone pain	7040	TGFB1	ORPHA:1328
HP:0002653	Bone pain	2131	EXT1	ORPHA:502
HP:0002653	Bone pain	7227	TRPS1	ORPHA:502
HP:0002653	Bone pain	5345	SERPINF2	ORPHA:79
HP:0002653	Bone pain	2629	GBA1	OMIM:230800
HP:0002653	Bone pain	2629	GBA1	ORPHA:77261
HP:0002653	Bone pain	2629	GBA1	ORPHA:77259
HP:0002653	Bone pain	6569	SLC34A1	OMIM:613388
HP:0002653	Bone pain	6569	SLC34A1	ORPHA:3337
HP:0002653	Bone pain	6569	SLC34A1	ORPHA:157215
HP:0002653	Bone pain	8878	SQSTM1	OMIM:167250
HP:0002653	Bone pain	1962	EHHADH	ORPHA:3337
HP:0002653	Bone pain	2628	GATM	ORPHA:3337
HP:0002653	Bone pain	137682	NDUFAF6	ORPHA:3337
HP:0002653	Bone pain	1758	DMP1	ORPHA:289176
HP:0002653	Bone pain	5167	ENPP1	ORPHA:289176
HP:0002653	Bone pain	7415	VCP	ORPHA:329475
HP:0002653	Bone pain	6774	STAT3	ORPHA:520
HP:0002653	Bone pain	5371	PML	ORPHA:520
HP:0002653	Bone pain	5914	RARA	ORPHA:520
HP:0002653	Bone pain	359948	IRF2BP2	ORPHA:520
HP:0002653	Bone pain	81608	FIP1L1	ORPHA:520
HP:0002653	Bone pain	4869	NPM1	ORPHA:520
HP:0002653	Bone pain	5573	PRKAR1A	ORPHA:520
HP:0002653	Bone pain	54880	BCOR	ORPHA:520
HP:0002653	Bone pain	64859	NABP1	ORPHA:520
HP:0002653	Bone pain	6777	STAT5B	ORPHA:520
HP:0002653	Bone pain	4926	NUMA1	ORPHA:520
HP:0002653	Bone pain	7704	ZBTB16	ORPHA:520
HP:0002653	Bone pain	79718	TBL1XR1	ORPHA:520
HP:0002653	Bone pain	57592	ZNF687	OMIM:616833
HP:0002653	Bone pain	5696	PSMB8	OMIM:256040
HP:0002653	Bone pain	950	SCARB2	ORPHA:77259
HP:0002654	Multiple epiphyseal dysplasia	1836	SLC26A2	OMIM:226900
HP:0002654	Multiple epiphyseal dysplasia	1836	SLC26A2	ORPHA:93307
HP:0002654	Multiple epiphyseal dysplasia	6399	TRAPPC2	ORPHA:93284
HP:0002654	Multiple epiphyseal dysplasia	100151683	RNU4ATAC	OMIM:226960
HP:0002654	Multiple epiphyseal dysplasia	5191	PEX7	OMIM:266500
HP:0002654	Multiple epiphyseal dysplasia	5264	PHYH	OMIM:266500
HP:0002654	Multiple epiphyseal dysplasia	9451	EIF2AK3	OMIM:226980
HP:0002654	Multiple epiphyseal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0002654	Multiple epiphyseal dysplasia	1297	COL9A1	OMIM:614135
HP:0002654	Multiple epiphyseal dysplasia	1280	COL2A1	ORPHA:166011
HP:0002654	Multiple epiphyseal dysplasia	374654	KIF7	OMIM:607131
HP:0002654	Multiple epiphyseal dysplasia	374654	KIF7	ORPHA:166024
HP:0002654	Multiple epiphyseal dysplasia	4148	MATN3	OMIM:607078
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:271700
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:616583
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:108300
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:183900
HP:0002655	Spondyloepiphyseal dysplasia	176	ACAN	ORPHA:93283
HP:0002655	Spondyloepiphyseal dysplasia	176	ACAN	OMIM:608361
HP:0002655	Spondyloepiphyseal dysplasia	6134	RPL10	OMIM:300998
HP:0002655	Spondyloepiphyseal dysplasia	6134	RPL10	ORPHA:459070
HP:0002655	Spondyloepiphyseal dysplasia	59341	TRPV4	OMIM:184095
HP:0002655	Spondyloepiphyseal dysplasia	9469	CHST3	OMIM:143095
HP:0002655	Spondyloepiphyseal dysplasia	55699	IARS2	ORPHA:436174
HP:0002655	Spondyloepiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002655	Spondyloepiphyseal dysplasia	100151683	RNU4ATAC	OMIM:616651
HP:0002655	Spondyloepiphyseal dysplasia	64802	NMNAT1	OMIM:619260
HP:0002655	Spondyloepiphyseal dysplasia	8720	MBTPS1	OMIM:618392
HP:0002655	Spondyloepiphyseal dysplasia	1301	COL11A1	OMIM:604841
HP:0002655	Spondyloepiphyseal dysplasia	50485	SMARCAL1	ORPHA:1830
HP:0002655	Spondyloepiphyseal dysplasia	50485	SMARCAL1	OMIM:242900
HP:0002655	Spondyloepiphyseal dysplasia	8838	CCN6	ORPHA:1159
HP:0002655	Spondyloepiphyseal dysplasia	6399	TRAPPC2	OMIM:313400
HP:0002656	Epiphyseal dysplasia	1280	COL2A1	OMIM:132450
HP:0002656	Epiphyseal dysplasia	3835	KIF22	ORPHA:93360
HP:0002656	Epiphyseal dysplasia	50628	GEMIN4	OMIM:617913
HP:0002656	Epiphyseal dysplasia	64131	XYLT1	OMIM:615777
HP:0002656	Epiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002656	Epiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:1824
HP:0002656	Epiphyseal dysplasia	55858	TMEM165	OMIM:614727
HP:0002656	Epiphyseal dysplasia	124583	CANT1	OMIM:617719
HP:0002656	Epiphyseal dysplasia	2317	FLNB	OMIM:272460
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	ORPHA:1427
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	OMIM:184840
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	OMIM:215150
HP:0002656	Epiphyseal dysplasia	411	ARSB	OMIM:253200
HP:0002656	Epiphyseal dysplasia	5745	PTH1R	ORPHA:79106
HP:0002656	Epiphyseal dysplasia	59341	TRPV4	OMIM:156530
HP:0002656	Epiphyseal dysplasia	1836	SLC26A2	OMIM:226900
HP:0002656	Epiphyseal dysplasia	1298	COL9A2	OMIM:600204
HP:0002656	Epiphyseal dysplasia	1298	COL9A2	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	9451	EIF2AK3	OMIM:226980
HP:0002656	Epiphyseal dysplasia	1311	COMP	OMIM:132400
HP:0002656	Epiphyseal dysplasia	1299	COL9A3	OMIM:600969
HP:0002656	Epiphyseal dysplasia	1299	COL9A3	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	3313	HSPA9	OMIM:616854
HP:0002656	Epiphyseal dysplasia	1806	DPYD	ORPHA:1675
HP:0002656	Epiphyseal dysplasia	2137	EXTL3	OMIM:617425
HP:0002656	Epiphyseal dysplasia	1297	COL9A1	OMIM:614134
HP:0002656	Epiphyseal dysplasia	1297	COL9A1	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	1301	COL11A1	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	84695	LOXL3	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	4882	NPR2	OMIM:615923
HP:0002656	Epiphyseal dysplasia	1028	CDKN1C	OMIM:614732
HP:0002656	Epiphyseal dysplasia	126792	B3GALT6	OMIM:615349
HP:0002656	Epiphyseal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002656	Epiphyseal dysplasia	2799	GNS	OMIM:252940
HP:0002656	Epiphyseal dysplasia	374654	KIF7	OMIM:607131
HP:0002656	Epiphyseal dysplasia	54808	DYM	ORPHA:239
HP:0002656	Epiphyseal dysplasia	4148	MATN3	OMIM:607078
HP:0002656	Epiphyseal dysplasia	4054	LTBP3	OMIM:617809
HP:0002657	Spondylometaphyseal dysplasia	1280	COL2A1	OMIM:184255
HP:0002657	Spondylometaphyseal dysplasia	1280	COL2A1	ORPHA:85198
HP:0002657	Spondylometaphyseal dysplasia	2335	FN1	OMIM:184255
HP:0002657	Spondylometaphyseal dysplasia	59341	TRPV4	OMIM:184252
HP:0002657	Spondylometaphyseal dysplasia	54	ACP5	OMIM:607944
HP:0002657	Spondylometaphyseal dysplasia	9321	TRIP11	OMIM:184260
HP:0002657	Spondylometaphyseal dysplasia	2879	GPX4	ORPHA:93317
HP:0002657	Spondylometaphyseal dysplasia	2879	GPX4	OMIM:250220
HP:0002657	Spondylometaphyseal dysplasia	51025	PAM16	OMIM:613320
HP:0002657	Spondylometaphyseal dysplasia	755	CFAP410	OMIM:602271
HP:0002657	Spondylometaphyseal dysplasia	5130	PCYT1A	OMIM:608940
HP:0010655	Epiphyseal stippling	2317	FLNB	ORPHA:56305
HP:0010655	Epiphyseal stippling	6628	SNRPB	OMIM:117650
HP:0010655	Epiphyseal stippling	8200	GDF5	ORPHA:93384
HP:0010655	Epiphyseal stippling	658	BMPR1B	ORPHA:93384
HP:0010655	Epiphyseal stippling	415	ARSL	ORPHA:79345
HP:0010655	Epiphyseal stippling	3930	LBR	OMIM:215140
HP:0010655	Epiphyseal stippling	5573	PRKAR1A	ORPHA:950
HP:0010655	Epiphyseal stippling	5573	PRKAR1A	OMIM:101800
HP:0010655	Epiphyseal stippling	5144	PDE4D	ORPHA:950
HP:0010655	Epiphyseal stippling	4921	DDR2	OMIM:271665
HP:0010655	Epiphyseal stippling	57020	VPS35L	OMIM:619135
HP:0010655	Epiphyseal stippling	4256	MGP	OMIM:245150
HP:0010655	Epiphyseal stippling	2677	GGCX	OMIM:277450
HP:0010655	Epiphyseal stippling	5190	PEX6	OMIM:614862
HP:0010655	Epiphyseal stippling	5190	PEX6	ORPHA:912
HP:0010655	Epiphyseal stippling	50814	NSDHL	OMIM:308050
HP:0010655	Epiphyseal stippling	8504	PEX3	OMIM:614882
HP:0010655	Epiphyseal stippling	8504	PEX3	ORPHA:912
HP:0010655	Epiphyseal stippling	5828	PEX2	OMIM:614866
HP:0010655	Epiphyseal stippling	5828	PEX2	ORPHA:912
HP:0010655	Epiphyseal stippling	7068	THRB	OMIM:274300
HP:0010655	Epiphyseal stippling	4758	NEU1	OMIM:256550
HP:0010655	Epiphyseal stippling	5191	PEX7	OMIM:215100
HP:0010655	Epiphyseal stippling	10682	EBP	OMIM:302960
HP:0010655	Epiphyseal stippling	10682	EBP	ORPHA:35173
HP:0010655	Epiphyseal stippling	2990	GUSB	ORPHA:584
HP:0010655	Epiphyseal stippling	1717	DHCR7	OMIM:270400
HP:0010655	Epiphyseal stippling	8540	AGPS	OMIM:600121
HP:0010655	Epiphyseal stippling	8443	GNPAT	OMIM:222765
HP:0010655	Epiphyseal stippling	5189	PEX1	OMIM:601539
HP:0010655	Epiphyseal stippling	5189	PEX1	ORPHA:912
HP:0010655	Epiphyseal stippling	5189	PEX1	OMIM:214100
HP:0010655	Epiphyseal stippling	5192	PEX10	OMIM:614870
HP:0010655	Epiphyseal stippling	5192	PEX10	ORPHA:912
HP:0010655	Epiphyseal stippling	55670	PEX26	OMIM:614872
HP:0010655	Epiphyseal stippling	55670	PEX26	ORPHA:912
HP:0010655	Epiphyseal stippling	9409	PEX16	OMIM:614876
HP:0010655	Epiphyseal stippling	9409	PEX16	ORPHA:912
HP:0010655	Epiphyseal stippling	5193	PEX12	OMIM:614859
HP:0010655	Epiphyseal stippling	5193	PEX12	ORPHA:912
HP:0010655	Epiphyseal stippling	5824	PEX19	ORPHA:912
HP:0010655	Epiphyseal stippling	8799	PEX11B	ORPHA:912
HP:0010655	Epiphyseal stippling	5830	PEX5	ORPHA:912
HP:0010655	Epiphyseal stippling	5194	PEX13	ORPHA:912
HP:0010655	Epiphyseal stippling	5195	PEX14	ORPHA:912
HP:0010655	Epiphyseal stippling	388015	RTL1	ORPHA:96334
HP:0010655	Epiphyseal stippling	8788	DLK1	ORPHA:96334
HP:0010655	Epiphyseal stippling	55384	MEG3	ORPHA:96334
HP:0002659	Increased susceptibility to fractures	10312	TCIRG1	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	1186	CLCN7	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	9842	PLEKHM1	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	3763	KCNJ6	ORPHA:435628
HP:0002659	Increased susceptibility to fractures	3572	IL6ST	OMIM:619752
HP:0002659	Increased susceptibility to fractures	1594	CYP27B1	ORPHA:289157
HP:0002659	Increased susceptibility to fractures	120227	CYP2R1	ORPHA:289157
HP:0002659	Increased susceptibility to fractures	9368	NHERF1	OMIM:612287
HP:0002659	Increased susceptibility to fractures	1593	CYP27A1	ORPHA:909
HP:0002659	Increased susceptibility to fractures	6569	SLC34A1	OMIM:612286
HP:0002659	Increased susceptibility to fractures	6569	SLC34A1	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	249	ALPL	OMIM:146300
HP:0002659	Increased susceptibility to fractures	249	ALPL	OMIM:241500
HP:0002659	Increased susceptibility to fractures	2335	FN1	ORPHA:93315
HP:0002659	Increased susceptibility to fractures	1280	COL2A1	ORPHA:93315
HP:0002659	Increased susceptibility to fractures	23233	EXOC6B	ORPHA:93359
HP:0002659	Increased susceptibility to fractures	126792	B3GALT6	ORPHA:93359
HP:0002659	Increased susceptibility to fractures	126792	B3GALT6	OMIM:615349
HP:0002659	Increased susceptibility to fractures	5566	PRKACA	ORPHA:189439
HP:0002659	Increased susceptibility to fractures	8622	PDE8B	ORPHA:189439
HP:0002659	Increased susceptibility to fractures	5573	PRKAR1A	ORPHA:189439
HP:0002659	Increased susceptibility to fractures	50940	PDE11A	ORPHA:189439
HP:0002659	Increased susceptibility to fractures	23314	SATB2	ORPHA:251028
HP:0002659	Increased susceptibility to fractures	171023	ASXL1	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	54790	TET2	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	3815	KIT	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	6427	SRSF2	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	118429	ANTXR2	ORPHA:2176
HP:0002659	Increased susceptibility to fractures	5352	PLOD2	OMIM:609220
HP:0002659	Increased susceptibility to fractures	3043	HBB	ORPHA:231222
HP:0002659	Increased susceptibility to fractures	54453	RIN2	ORPHA:217335
HP:0002659	Increased susceptibility to fractures	5176	SERPINF1	OMIM:613982
HP:0002659	Increased susceptibility to fractures	79798	ARMC5	ORPHA:189427
HP:0002659	Increased susceptibility to fractures	2778	GNAS	ORPHA:189427
HP:0002659	Increased susceptibility to fractures	55249	YY1AP1	ORPHA:79094
HP:0002659	Increased susceptibility to fractures	55249	YY1AP1	OMIM:602531
HP:0002659	Increased susceptibility to fractures	4041	LRP5	OMIM:259770
HP:0002659	Increased susceptibility to fractures	4041	LRP5	ORPHA:2788
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:166200
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:130060
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:166220
HP:0002659	Increased susceptibility to fractures	60681	FKBP10	OMIM:259450
HP:0002659	Increased susceptibility to fractures	60681	FKBP10	OMIM:610968
HP:0002659	Increased susceptibility to fractures	55768	NGLY1	ORPHA:404454
HP:0002659	Increased susceptibility to fractures	3178	HNRNPA1	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	7415	VCP	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	3181	HNRNPA2B1	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	11107	PRDM5	ORPHA:90354
HP:0002659	Increased susceptibility to fractures	84627	ZNF469	ORPHA:90354
HP:0002659	Increased susceptibility to fractures	2542	SLC37A4	ORPHA:79259
HP:0002659	Increased susceptibility to fractures	1962	EHHADH	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	2628	GATM	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	137682	NDUFAF6	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	4221	MEN1	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1027	CDKN1B	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1026	CDKN1A	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1030	CDKN2B	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1031	CDKN2C	ORPHA:652
HP:0002659	Increased susceptibility to fractures	9663	LPIN2	ORPHA:77297
HP:0002659	Increased susceptibility to fractures	2260	FGFR1	OMIM:166250
HP:0002659	Increased susceptibility to fractures	92344	GORAB	OMIM:231070
HP:0002659	Increased susceptibility to fractures	4313	MMP2	ORPHA:371428
HP:0002659	Increased susceptibility to fractures	4323	MMP14	ORPHA:371428
HP:0002659	Increased susceptibility to fractures	1678	TIMM8A	OMIM:304700
HP:0002659	Increased susceptibility to fractures	1513	CTSK	ORPHA:763
HP:0002659	Increased susceptibility to fractures	4784	NFIX	ORPHA:561
HP:0002659	Increased susceptibility to fractures	2629	GBA1	ORPHA:77261
HP:0002659	Increased susceptibility to fractures	860	RUNX2	OMIM:119600
HP:0002659	Increased susceptibility to fractures	80025	PANK2	ORPHA:216866
HP:0002659	Increased susceptibility to fractures	55151	TMEM38B	OMIM:615066
HP:0002659	Increased susceptibility to fractures	80169	CTC1	OMIM:612199
HP:0002659	Increased susceptibility to fractures	203859	ANO5	OMIM:166260
HP:0002659	Increased susceptibility to fractures	8792	TNFRSF11A	OMIM:602080
HP:0002659	Increased susceptibility to fractures	1146	CHRNG	OMIM:253290
HP:0002659	Increased susceptibility to fractures	1144	CHRND	OMIM:253290
HP:0002659	Increased susceptibility to fractures	1134	CHRNA1	OMIM:253290
HP:0002659	Increased susceptibility to fractures	1278	COL1A2	OMIM:166220
HP:0002659	Increased susceptibility to fractures	1499	CTNNB1	ORPHA:54595
HP:0002659	Increased susceptibility to fractures	673	BRAF	ORPHA:54595
HP:0002659	Increased susceptibility to fractures	85446	ZFHX2	OMIM:147430
HP:0002659	Increased susceptibility to fractures	4803	NGF	ORPHA:64752
HP:0002659	Increased susceptibility to fractures	4803	NGF	OMIM:608654
HP:0002659	Increased susceptibility to fractures	4914	NTRK1	ORPHA:64752
HP:0002659	Increased susceptibility to fractures	4914	NTRK1	ORPHA:642
HP:0002659	Increased susceptibility to fractures	4358	MPV17	OMIM:256810
HP:0002659	Increased susceptibility to fractures	54463	RETREG1	OMIM:201300
HP:0002659	Increased susceptibility to fractures	65125	WNK1	OMIM:201300
HP:0002659	Increased susceptibility to fractures	6335	SCN9A	OMIM:201300
HP:0002659	Increased susceptibility to fractures	6335	SCN9A	OMIM:243000
HP:0002659	Increased susceptibility to fractures	547	KIF1A	OMIM:201300
HP:0002659	Increased susceptibility to fractures	867	CBL	ORPHA:98850
HP:0002659	Increased susceptibility to fractures	861	RUNX1	ORPHA:98850
HP:0002659	Increased susceptibility to fractures	595	CCND1	ORPHA:29073
HP:0002659	Increased susceptibility to fractures	9401	RECQL4	ORPHA:221016
HP:0002659	Increased susceptibility to fractures	189	AGXT	OMIM:259900
HP:0002659	Increased susceptibility to fractures	540	ATP7B	ORPHA:905
HP:0002659	Increased susceptibility to fractures	7157	TP53	ORPHA:668
HP:0002659	Increased susceptibility to fractures	5925	RB1	ORPHA:668
HP:0002659	Increased susceptibility to fractures	11200	CHEK2	ORPHA:668
HP:0002659	Increased susceptibility to fractures	54209	TREM2	OMIM:618193
HP:0002659	Increased susceptibility to fractures	51124	IER3IP1	OMIM:614231
HP:0002659	Increased susceptibility to fractures	4233	MET	OMIM:607278
HP:0002659	Increased susceptibility to fractures	79158	GNPTAB	OMIM:252500
HP:0002659	Increased susceptibility to fractures	2710	GK	OMIM:307030
HP:0002659	Increased susceptibility to fractures	6609	SMPD1	ORPHA:77293
HP:0002659	Increased susceptibility to fractures	5745	PTH1R	OMIM:156400
HP:0002659	Increased susceptibility to fractures	7390	UROS	OMIM:263700
HP:0002659	Increased susceptibility to fractures	6521	SLC4A1	OMIM:179800
HP:0002659	Increased susceptibility to fractures	8815	BANF1	OMIM:614008
HP:0002659	Increased susceptibility to fractures	4052	LTBP1	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	30008	EFEMP2	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	10516	FBLN5	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	6522	SLC4A2	OMIM:620366
HP:0002659	Increased susceptibility to fractures	7305	TYROBP	OMIM:221770
HP:0002659	Increased susceptibility to fractures	8985	PLOD3	OMIM:612394
HP:0002659	Increased susceptibility to fractures	175	AGA	OMIM:208400
HP:0002659	Increased susceptibility to fractures	567	B2M	ORPHA:314652
HP:0002659	Increased susceptibility to fractures	950	SCARB2	ORPHA:77259
HP:0002659	Increased susceptibility to fractures	10558	SPTLC1	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	25923	ATL3	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	9517	SPTLC2	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	51062	ATL1	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	6309	SC5D	OMIM:607330
HP:0002659	Increased susceptibility to fractures	8322	FZD4	OMIM:133780
HP:0002659	Increased susceptibility to fractures	875	CBS	ORPHA:394
HP:0002659	Increased susceptibility to fractures	7421	VDR	ORPHA:93160
HP:0002659	Increased susceptibility to fractures	7421	VDR	OMIM:277440
HP:0002659	Increased susceptibility to fractures	9871	SEC24D	ORPHA:2050
HP:0002659	Increased susceptibility to fractures	9871	SEC24D	OMIM:616294
HP:0002659	Increased susceptibility to fractures	5034	P4HB	ORPHA:2050
HP:0002659	Increased susceptibility to fractures	5034	P4HB	OMIM:112240
HP:0002659	Increased susceptibility to fractures	8518	ELP1	ORPHA:1764
HP:0002659	Increased susceptibility to fractures	2733	GLE1	ORPHA:1486
HP:0002659	Increased susceptibility to fractures	29887	SNX10	ORPHA:667
HP:0002659	Increased susceptibility to fractures	8600	TNFSF11	ORPHA:667
HP:0002659	Increased susceptibility to fractures	8600	TNFSF11	OMIM:259710
HP:0002659	Increased susceptibility to fractures	6662	SOX9	ORPHA:140
HP:0002659	Increased susceptibility to fractures	1184	CLCN5	OMIM:300009
HP:0002659	Increased susceptibility to fractures	1184	CLCN5	OMIM:300554
HP:0002659	Increased susceptibility to fractures	846	CASR	ORPHA:417
HP:0002659	Increased susceptibility to fractures	846	CASR	OMIM:239200
HP:0002659	Increased susceptibility to fractures	2304	FOXE1	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	3026	HABP2	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	9562	MINPP1	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	4952	OCRL	ORPHA:534
HP:0002659	Increased susceptibility to fractures	4621	MYH3	OMIM:193700
HP:0002659	Increased susceptibility to fractures	10265	IRX5	OMIM:611174
HP:0002659	Increased susceptibility to fractures	6774	STAT3	ORPHA:2314
HP:0002659	Increased susceptibility to fractures	6774	STAT3	OMIM:147060
HP:0002659	Increased susceptibility to fractures	55603	TENT5A	OMIM:617952
HP:0002659	Increased susceptibility to fractures	90993	CREB3L1	OMIM:616229
HP:0002659	Increased susceptibility to fractures	7841	MOGS	OMIM:606056
HP:0002659	Increased susceptibility to fractures	6678	SPARC	OMIM:616507
HP:0002659	Increased susceptibility to fractures	9056	SLC7A7	OMIM:222700
HP:0002659	Increased susceptibility to fractures	4982	TNFRSF11B	OMIM:239000
HP:0002659	Increased susceptibility to fractures	4982	TNFRSF11B	ORPHA:2801
HP:0002659	Increased susceptibility to fractures	538	ATP7A	ORPHA:565
HP:0002659	Increased susceptibility to fractures	1501	CTNND2	ORPHA:281
HP:0002659	Increased susceptibility to fractures	9037	SEMA5A	ORPHA:281
HP:0002659	Increased susceptibility to fractures	649	BMP1	OMIM:614856
HP:0002659	Increased susceptibility to fractures	7471	WNT1	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	7471	WNT1	OMIM:615220
HP:0002659	Increased susceptibility to fractures	22943	DKK1	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	89780	WNT3A	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	3418	IDH2	ORPHA:163634
HP:0002659	Increased susceptibility to fractures	3417	IDH1	ORPHA:163634
HP:0002659	Increased susceptibility to fractures	4853	NOTCH2	ORPHA:955
HP:0002659	Increased susceptibility to fractures	760	CA2	ORPHA:2785
HP:0002659	Increased susceptibility to fractures	6611	SMS	ORPHA:3063
HP:0002659	Increased susceptibility to fractures	6611	SMS	OMIM:309583
HP:0002659	Increased susceptibility to fractures	11285	B4GALT7	OMIM:130070
HP:0002659	Increased susceptibility to fractures	142680	SLC34A3	OMIM:241530
HP:0002659	Increased susceptibility to fractures	3845	KRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	4893	NRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	3265	HRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	9276	COPB2	OMIM:619884
HP:0002659	Increased susceptibility to fractures	5159	PDGFRB	OMIM:601812
HP:0002659	Increased susceptibility to fractures	55898	UNC45A	OMIM:619377
HP:0002659	Increased susceptibility to fractures	11014	KDELR2	OMIM:619131
HP:0002659	Increased susceptibility to fractures	50484	RRM2B	OMIM:268315
HP:0002659	Increased susceptibility to fractures	8218	CLTCL1	ORPHA:453510
HP:0002659	Increased susceptibility to fractures	3977	LIFR	ORPHA:3206
HP:0002659	Increased susceptibility to fractures	55315	SLC29A3	ORPHA:1782
HP:0002659	Increased susceptibility to fractures	55315	SLC29A3	ORPHA:168569
HP:0002659	Increased susceptibility to fractures	5831	PYCR1	ORPHA:2078
HP:0002659	Increased susceptibility to fractures	9321	TRIP11	ORPHA:93299
HP:0002659	Increased susceptibility to fractures	166929	SGMS2	OMIM:126550
HP:0002659	Increased susceptibility to fractures	23592	LEMD3	ORPHA:1306
HP:0002659	Increased susceptibility to fractures	387733	IFITM5	OMIM:610967
HP:0002659	Increased susceptibility to fractures	9469	CHST3	OMIM:245600
HP:0002659	Increased susceptibility to fractures	26229	B3GAT3	OMIM:245600
HP:0002659	Increased susceptibility to fractures	26277	TINF2	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55651	NHP2	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	79650	USB1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55135	WRAP53	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	51750	RTEL1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	4869	NPM1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7012	TERC	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55505	NOP10	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	5073	PARN	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7015	TERT	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	1736	DKC1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7298	TYMS	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	57592	ZNF687	OMIM:616833
HP:0002659	Increased susceptibility to fractures	121340	SP7	OMIM:613849
HP:0002659	Increased susceptibility to fractures	10371	SEMA3A	ORPHA:478
HP:0002659	Increased susceptibility to fractures	81848	SPRY4	ORPHA:478
HP:0002659	Increased susceptibility to fractures	23767	FLRT3	ORPHA:478
HP:0002659	Increased susceptibility to fractures	128674	PROKR2	ORPHA:478
HP:0002659	Increased susceptibility to fractures	79625	NDNF	ORPHA:478
HP:0002659	Increased susceptibility to fractures	2253	FGF8	ORPHA:478
HP:0002659	Increased susceptibility to fractures	389549	FEZF1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	1630	DCC	ORPHA:478
HP:0002659	Increased susceptibility to fractures	3730	ANOS1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	54756	IL17RD	ORPHA:478
HP:0002659	Increased susceptibility to fractures	6663	SOX10	ORPHA:478
HP:0002659	Increased susceptibility to fractures	285025	CCDC141	ORPHA:478
HP:0002659	Increased susceptibility to fractures	60675	PROK2	ORPHA:478
HP:0002659	Increased susceptibility to fractures	55636	CHD7	ORPHA:478
HP:0002659	Increased susceptibility to fractures	1848	DUSP6	ORPHA:478
HP:0002659	Increased susceptibility to fractures	6870	TACR3	ORPHA:478
HP:0002659	Increased susceptibility to fractures	55717	WDR11	ORPHA:478
HP:0002659	Increased susceptibility to fractures	9394	HS6ST1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	8820	HESX1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	8822	FGF17	ORPHA:478
HP:0002659	Increased susceptibility to fractures	5728	PTEN	ORPHA:137608
HP:0002659	Increased susceptibility to fractures	6904	TBCD	ORPHA:496641
HP:0002659	Increased susceptibility to fractures	8878	SQSTM1	OMIM:167250
HP:0002659	Increased susceptibility to fractures	4507	MTAP	OMIM:112250
HP:0002659	Increased susceptibility to fractures	51360	MBTPS2	OMIM:301014
HP:0002659	Increased susceptibility to fractures	79879	CCDC134	OMIM:619795
HP:0002659	Increased susceptibility to fractures	58	ACTA1	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	58	ACTA1	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	4703	NEB	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	4703	NEB	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	10324	KLHL41	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	10324	KLHL41	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	7170	TPM3	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	131377	KLHL40	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	56203	LMOD3	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	202018	TAPT1	OMIM:616897
HP:0002659	Increased susceptibility to fractures	10491	CRTAP	OMIM:610682
HP:0002659	Increased susceptibility to fractures	23184	MESD	OMIM:618644
HP:0002659	Increased susceptibility to fractures	51008	ASCC1	OMIM:616867
HP:0002659	Increased susceptibility to fractures	9325	TRIP4	OMIM:616866
HP:0002659	Increased susceptibility to fractures	5479	PPIB	OMIM:259440
HP:0002659	Increased susceptibility to fractures	64175	P3H1	OMIM:610915
HP:0002659	Increased susceptibility to fractures	3930	LBR	OMIM:215140
HP:0002659	Increased susceptibility to fractures	55503	TRPV6	OMIM:618188
HP:0012870	Vanishing testis	57647	DHX37	OMIM:273250
HP:0012870	Vanishing testis	57647	DHX37	ORPHA:251510
HP:0012870	Vanishing testis	6662	SOX9	ORPHA:251510
HP:0012870	Vanishing testis	6845	VAMP7	ORPHA:251510
HP:0012870	Vanishing testis	51741	WWOX	ORPHA:251510
HP:0012870	Vanishing testis	4214	MAP3K1	ORPHA:251510
HP:0012870	Vanishing testis	2516	NR5A1	ORPHA:251510
HP:0012870	Vanishing testis	7490	WT1	ORPHA:251510
HP:0012870	Vanishing testis	58524	DMRT3	ORPHA:251510
HP:0012870	Vanishing testis	6736	SRY	ORPHA:251510
HP:0012870	Vanishing testis	23414	ZFPM2	ORPHA:251510
HP:0012870	Vanishing testis	190	NR0B1	ORPHA:251510
HP:0012870	Vanishing testis	2626	GATA4	ORPHA:251510
HP:0012871	Varicocele	207	AKT1	OMIM:615109
HP:0012871	Varicocele	5728	PTEN	OMIM:158350
HP:0012871	Varicocele	10847	SRCAP	ORPHA:2044
HP:0012871	Varicocele	10847	SRCAP	OMIM:136140
HP:0012872	Abnormal vas deferens morphology	10149	ADGRG2	ORPHA:48
HP:0012872	Abnormal vas deferens morphology	10149	ADGRG2	OMIM:300985
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	ORPHA:48
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	OMIM:277180
HP:0012872	Abnormal vas deferens morphology	6804	STX1A	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	2947	GSTM3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	7040	TGFB1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	2729	GCLC	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1084	CEACAM3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	6556	SLC11A1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	51164	DCTN4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3783	KCNN4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	4282	MIF	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1909	EDNRA	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	6550	SLC9A3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3162	HMOX1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	115019	SLC26A9	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3077	HFE	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	11254	SLC6A14	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	5265	SERPINA1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	22802	CLCA4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	4680	CEACAM6	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	367	AR	OMIM:312300
HP:0012872	Abnormal vas deferens morphology	6928	HNF1B	OMIM:137920
HP:0012873	Absent vas deferens	10149	ADGRG2	ORPHA:48
HP:0012873	Absent vas deferens	10149	ADGRG2	OMIM:300985
HP:0012873	Absent vas deferens	1080	CFTR	ORPHA:48
HP:0012873	Absent vas deferens	1080	CFTR	ORPHA:586
HP:0012873	Absent vas deferens	1080	CFTR	OMIM:277180
HP:0012873	Absent vas deferens	6804	STX1A	ORPHA:586
HP:0012873	Absent vas deferens	2947	GSTM3	ORPHA:586
HP:0012873	Absent vas deferens	7040	TGFB1	ORPHA:586
HP:0012873	Absent vas deferens	2729	GCLC	ORPHA:586
HP:0012873	Absent vas deferens	1084	CEACAM3	ORPHA:586
HP:0012873	Absent vas deferens	6556	SLC11A1	ORPHA:586
HP:0012873	Absent vas deferens	51164	DCTN4	ORPHA:586
HP:0012873	Absent vas deferens	3783	KCNN4	ORPHA:586
HP:0012873	Absent vas deferens	4282	MIF	ORPHA:586
HP:0012873	Absent vas deferens	1909	EDNRA	ORPHA:586
HP:0012873	Absent vas deferens	6550	SLC9A3	ORPHA:586
HP:0012873	Absent vas deferens	3162	HMOX1	ORPHA:586
HP:0012873	Absent vas deferens	115019	SLC26A9	ORPHA:586
HP:0012873	Absent vas deferens	3077	HFE	ORPHA:586
HP:0012873	Absent vas deferens	11254	SLC6A14	ORPHA:586
HP:0012873	Absent vas deferens	5265	SERPINA1	ORPHA:586
HP:0012873	Absent vas deferens	22802	CLCA4	ORPHA:586
HP:0012873	Absent vas deferens	4680	CEACAM6	ORPHA:586
HP:0012873	Absent vas deferens	367	AR	OMIM:312300
HP:0012873	Absent vas deferens	6928	HNF1B	ORPHA:93111
HP:0012874	Abnormal male reproductive system physiology	6804	STX1A	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	7461	CLIP2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	84277	DNAJC30	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	5982	RFC2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	2969	GTF2I	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	3984	LIMK1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	9569	GTF2IRD1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	155382	VPS37D	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	155368	METTL27	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	114049	BUD23	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	7458	EIF4H	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	84163	GTF2IRD2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	9275	BCL7B	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	26608	TBL2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	653361	NCF1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	135886	TMEM270	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	51085	MLXIPL	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	9031	BAZ1B	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	2006	ELN	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	26160	IFT172	OMIM:619471
HP:0012874	Abnormal male reproductive system physiology	1497	CTNS	OMIM:219800
HP:0012874	Abnormal male reproductive system physiology	6662	SOX9	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	6658	SOX3	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	6736	SRY	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	4204	MECP2	OMIM:300055
HP:0012874	Abnormal male reproductive system physiology	326	AIRE	OMIM:240300
HP:0012874	Abnormal male reproductive system physiology	64682	ANAPC1	OMIM:618625
HP:0012874	Abnormal male reproductive system physiology	493856	CISD2	ORPHA:3463
HP:0012874	Abnormal male reproductive system physiology	7466	WFS1	ORPHA:3463
HP:0012874	Abnormal male reproductive system physiology	7466	WFS1	ORPHA:411590
HP:0012874	Abnormal male reproductive system physiology	1161	ERCC8	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	1161	ERCC8	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	2072	ERCC4	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	2074	ERCC6	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	2074	ERCC6	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	2067	ERCC1	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	1968	EIF2S3	OMIM:300148
HP:0012874	Abnormal male reproductive system physiology	5424	POLD1	OMIM:615381
HP:0012874	Abnormal male reproductive system physiology	3972	LHB	OMIM:228300
HP:0012874	Abnormal male reproductive system physiology	5422	POLA1	ORPHA:163976
HP:0012874	Abnormal male reproductive system physiology	1586	CYP17A1	ORPHA:90793
HP:0012874	Abnormal male reproductive system physiology	50846	DHH	ORPHA:168563
HP:0012874	Abnormal male reproductive system physiology	55240	STEAP3	OMIM:615234
HP:0012874	Abnormal male reproductive system physiology	55240	STEAP3	ORPHA:300298
HP:0012874	Abnormal male reproductive system physiology	84515	MCM8	OMIM:612885
HP:0012874	Abnormal male reproductive system physiology	286	ANK1	ORPHA:251066
HP:0012874	Abnormal male reproductive system physiology	55315	SLC29A3	OMIM:602782
HP:0012874	Abnormal male reproductive system physiology	55315	SLC29A3	ORPHA:168569
HP:0012874	Abnormal male reproductive system physiology	317761	C14orf39	OMIM:619202
HP:0012874	Abnormal male reproductive system physiology	3284	HSD3B2	ORPHA:90791
HP:0012874	Abnormal male reproductive system physiology	4952	OCRL	ORPHA:534
HP:0012874	Abnormal male reproductive system physiology	6794	STK11	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	8915	BCL10	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	3815	KIT	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	2261	FGFR3	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	2629	GBA1	ORPHA:2072
HP:0012874	Abnormal male reproductive system physiology	79184	BRCC3	ORPHA:280679
HP:0012874	Abnormal male reproductive system physiology	672	BRCA1	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	10459	MAD2L2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	29089	UBE2T	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	675	BRCA2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55120	FANCL	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2177	FANCD2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2175	FANCA	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2187	FANCB	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2176	FANCC	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2178	FANCE	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2188	FANCF	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2189	FANCG	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	5888	RAD51	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	5889	RAD51C	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55159	RFWD3	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	83990	BRIP1	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	79728	PALB2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	84464	SLX4	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55215	FANCI	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	56246	MRAP	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	6770	STAR	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	4158	MC2R	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	23530	NNT	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	10587	TXNRD2	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	93953	GCNA	OMIM:301077
HP:0012874	Abnormal male reproductive system physiology	6845	VAMP7	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	51741	WWOX	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	4214	MAP3K1	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	7490	WT1	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	58524	DMRT3	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	57647	DHX37	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	23414	ZFPM2	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	2626	GATA4	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	9082	XKRY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	8284	KDM5D	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	442862	PRY2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9081	PRY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	140032	RPS4Y2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9426	CDY2A	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9083	BPY2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	86614	HSFY1	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9084	VCY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9085	CDY1	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	6342	SCP2	OMIM:613724
HP:0012874	Abnormal male reproductive system physiology	10149	ADGRG2	ORPHA:48
HP:0012874	Abnormal male reproductive system physiology	1080	CFTR	ORPHA:48
HP:0012874	Abnormal male reproductive system physiology	7840	ALMS1	ORPHA:64
HP:0012874	Abnormal male reproductive system physiology	286151	FBXO43	OMIM:619696
HP:0012874	Abnormal male reproductive system physiology	3973	LHCGR	ORPHA:3000
HP:0012874	Abnormal male reproductive system physiology	8468	FKBP6	OMIM:620103
HP:0012874	Abnormal male reproductive system physiology	4438	MSH4	OMIM:108420
HP:0012874	Abnormal male reproductive system physiology	2908	NR3C1	ORPHA:786
HP:0012874	Abnormal male reproductive system physiology	7258	TSPY1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57055	DAZ2	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57135	DAZ4	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	8287	USP9Y	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	5940	RBMY1A1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57054	DAZ3	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	8653	DDX3Y	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	1617	DAZ1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	5447	POR	ORPHA:95699
HP:0012874	Abnormal male reproductive system physiology	641	BLM	ORPHA:125
HP:0012874	Abnormal male reproductive system physiology	7555	CNBP	OMIM:602668
HP:0012874	Abnormal male reproductive system physiology	190	NR0B1	OMIM:300200
HP:0012874	Abnormal male reproductive system physiology	2488	FSHB	ORPHA:52901
HP:0012874	Abnormal male reproductive system physiology	140801	RPL10L	OMIM:619689
HP:0012874	Abnormal male reproductive system physiology	84984	CEP19	OMIM:615703
HP:0012874	Abnormal male reproductive system physiology	84168	ANTXR1	ORPHA:2067
HP:0012874	Abnormal male reproductive system physiology	130951	M1AP	OMIM:619108
HP:0012874	Abnormal male reproductive system physiology	25886	POC1A	OMIM:614813
HP:0012874	Abnormal male reproductive system physiology	1027	CDKN1B	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1026	CDKN1A	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1030	CDKN2B	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1031	CDKN2C	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	8913	CACNA1G	ORPHA:458803
HP:0012874	Abnormal male reproductive system physiology	2982	GUCY1A1	OMIM:615750
HP:0012874	Abnormal male reproductive system physiology	8314	BAP1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	4771	NF2	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6598	SMARCB1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	5155	PDGFB	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	84231	TRAF7	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6608	SMO	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	207	AKT1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	5290	PIK3CA	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	7015	TERT	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	51684	SUFU	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6605	SMARCE1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	83550	GPR101	ORPHA:963
HP:0012874	Abnormal male reproductive system physiology	7036	TFR2	OMIM:604250
HP:0012874	Abnormal male reproductive system physiology	2332	FMR1	ORPHA:93256
HP:0012874	Abnormal male reproductive system physiology	2332	FMR1	OMIM:300623
HP:0012874	Abnormal male reproductive system physiology	7276	TTR	OMIM:105210
HP:0012874	Abnormal male reproductive system physiology	7276	TTR	ORPHA:85447
HP:0012874	Abnormal male reproductive system physiology	5277	PIGA	ORPHA:447
HP:0012874	Abnormal male reproductive system physiology	724066	ATXN8	ORPHA:98760
HP:0012874	Abnormal male reproductive system physiology	6315	ATXN8OS	ORPHA:98760
HP:0012874	Abnormal male reproductive system physiology	26278	SACS	ORPHA:98
HP:0012874	Abnormal male reproductive system physiology	3074	HEXB	OMIM:268800
HP:0012874	Abnormal male reproductive system physiology	57817	HAMP	ORPHA:79230
HP:0012874	Abnormal male reproductive system physiology	148738	HJV	ORPHA:79230
HP:0012874	Abnormal male reproductive system physiology	30061	SLC40A1	OMIM:606069
HP:0012874	Abnormal male reproductive system physiology	650	BMP2	OMIM:235200
HP:0012874	Abnormal male reproductive system physiology	27235	COQ2	ORPHA:227510
HP:0012874	Abnormal male reproductive system physiology	27235	COQ2	ORPHA:98933
HP:0012874	Abnormal male reproductive system physiology	4001	LMNB1	OMIM:169500
HP:0012874	Abnormal male reproductive system physiology	472	ATM	OMIM:208900
HP:0012874	Abnormal male reproductive system physiology	80067	DCAF17	ORPHA:3464
HP:0012874	Abnormal male reproductive system physiology	24145	PANX1	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	494551	WEE2	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	197135	PATL2	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	347688	TUBB8	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	340719	NANOS1	ORPHA:399808
HP:0012874	Abnormal male reproductive system physiology	340719	NANOS1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	2260	FGFR1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	81848	SPRY4	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	128674	PROKR2	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2253	FGF8	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	60675	PROK2	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	55636	CHD7	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	6870	TACR3	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	1848	DUSP6	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	26012	NSMF	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	55717	WDR11	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	9394	HS6ST1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2796	GNRH1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2798	GNRHR	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	84634	KISS1R	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	6866	TAC3	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	8822	FGF17	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	3814	KISS1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	402381	SOHLH1	OMIM:618115
HP:0012874	Abnormal male reproductive system physiology	402381	SOHLH1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	125150	ZSWIM7	OMIM:619831
HP:0012874	Abnormal male reproductive system physiology	57697	FANCM	OMIM:618086
HP:0012874	Abnormal male reproductive system physiology	57697	FANCM	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	10734	STAG3	OMIM:619672
HP:0012874	Abnormal male reproductive system physiology	285498	RNF212	OMIM:619673
HP:0012874	Abnormal male reproductive system physiology	158401	SHOC1	OMIM:619949
HP:0012874	Abnormal male reproductive system physiology	6875	TAF4B	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	56155	TEX14	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	84225	ZMYND15	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	50511	SYCP3	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	9075	CLDN2	OMIM:301060
HP:0012874	Abnormal male reproductive system physiology	25981	DNAH1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	115948	ODAD3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54768	HYDIN	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	352909	DNAAF3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	27148	STK36	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	51314	NME8	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	92749	DRC1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54970	TTC12	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	152110	NEK10	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	8481	OFD1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	2302	FOXJ1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	221421	RSPH9	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	85478	CCDC65	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55036	CCDC40	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	51364	ZMYND10	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	64446	DNAI2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	6674	SPAG1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83544	DNAL1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	89765	RSPH1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83538	ODAD4	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	200373	CFAP221	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	374407	DNAJB13	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55172	DNAAF2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	161582	DNAAF4	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	2622	GAS8	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	23639	DNAAF11	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	27019	DNAI1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	345895	RSPH4A	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54919	DNAAF5	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	6103	RPGR	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	388389	CCDC103	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	93233	ODAD1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55130	ODAD2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	1767	DNAH5	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83861	RSPH3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	345643	MCIDAS	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	56683	CFAP298	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	79925	SPEF2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	10309	CCNO	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	115399	LRRC56	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	139212	DNAAF6	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	123872	DNAAF1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	85016	CFAP300	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	339829	CCDC39	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	8701	DNAH11	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	1770	DNAH9	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	246176	GAS2L2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	5573	PRKAR1A	ORPHA:1359
HP:0012874	Abnormal male reproductive system physiology	50940	PDE11A	ORPHA:1359
HP:0012874	Abnormal male reproductive system physiology	146754	DNAH2	OMIM:619094
HP:0012874	Abnormal male reproductive system physiology	91057	CCDC34	OMIM:620084
HP:0012874	Abnormal male reproductive system physiology	1769	DNAH8	OMIM:619095
HP:0012874	Abnormal male reproductive system physiology	51726	DNAJB11	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	23193	GANAB	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	5310	PKD1	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	5311	PKD2	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	29880	ALG5	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	9742	IFT140	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	79796	ALG9	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	80114	BICC1	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	80217	CFAP43	OMIM:617592
HP:0012874	Abnormal male reproductive system physiology	8632	DNAH17	OMIM:618643
HP:0012874	Abnormal male reproductive system physiology	6928	HNF1B	OMIM:137920
HP:0012874	Abnormal male reproductive system physiology	140732	SUN5	ORPHA:529970
HP:0012874	Abnormal male reproductive system physiology	140732	SUN5	OMIM:617187
HP:0012874	Abnormal male reproductive system physiology	83449	PMFBP1	ORPHA:529970
HP:0012874	Abnormal male reproductive system physiology	89876	CFAP91	OMIM:619177
HP:0012874	Abnormal male reproductive system physiology	23568	ARL2BP	OMIM:615434
HP:0012874	Abnormal male reproductive system physiology	199223	TTC21A	OMIM:618429
HP:0012874	Abnormal male reproductive system physiology	124404	SEPTIN12	OMIM:614822
HP:0012874	Abnormal male reproductive system physiology	144132	DNHD1	OMIM:619712
HP:0012874	Abnormal male reproductive system physiology	196385	DNAH10	OMIM:619515
HP:0012874	Abnormal male reproductive system physiology	83894	TTC29	OMIM:618745
HP:0012874	Abnormal male reproductive system physiology	755	CFAP410	OMIM:602271
HP:0012874	Abnormal male reproductive system physiology	79846	CFAP69	OMIM:617959
HP:0012874	Abnormal male reproductive system physiology	200162	SPAG17	OMIM:619380
HP:0012874	Abnormal male reproductive system physiology	286464	CFAP47	OMIM:301059
HP:0012874	Abnormal male reproductive system physiology	317719	KLHL10	OMIM:615081
HP:0012874	Abnormal male reproductive system physiology	116369	SLC26A8	OMIM:606766
HP:0012874	Abnormal male reproductive system physiology	84071	ARMC2	OMIM:618433
HP:0012874	Abnormal male reproductive system physiology	144406	CFAP251	OMIM:618152
HP:0012874	Abnormal male reproductive system physiology	201134	CEP112	OMIM:619044
HP:0012874	Abnormal male reproductive system physiology	401024	FSIP2	OMIM:618153
HP:0012874	Abnormal male reproductive system physiology	159686	CFAP58	OMIM:619144
HP:0012874	Abnormal male reproductive system physiology	122481	AK7	OMIM:617965
HP:0012874	Abnormal male reproductive system physiology	676	BRDT	OMIM:617644
HP:0012874	Abnormal male reproductive system physiology	5161	PDHA2	OMIM:619828
HP:0012874	Abnormal male reproductive system physiology	117155	CATSPER2	OMIM:611102
HP:0012874	Abnormal male reproductive system physiology	117155	CATSPER2	OMIM:612997
HP:0012874	Abnormal male reproductive system physiology	161497	STRC	OMIM:611102
HP:0012874	Abnormal male reproductive system physiology	161497	STRC	OMIM:612997
HP:0012874	Abnormal male reproductive system physiology	117144	CATSPER1	OMIM:612997
HP:0012874	Abnormal male reproductive system physiology	57704	GBA2	ORPHA:320391
HP:0012874	Abnormal male reproductive system physiology	157855	KCNU1	OMIM:620196
HP:0012874	Abnormal male reproductive system physiology	6691	SPINK2	OMIM:618091
HP:0012874	Abnormal male reproductive system physiology	22873	DZIP1	OMIM:619102
HP:0012874	Abnormal male reproductive system physiology	255101	CFAP65	OMIM:618664
HP:0012874	Abnormal male reproductive system physiology	118491	CFAP70	OMIM:618670
HP:0012874	Abnormal male reproductive system physiology	80173	IFT74	OMIM:619585
HP:0012874	Abnormal male reproductive system physiology	8556	CDC14A	OMIM:608653
HP:0012874	Abnormal male reproductive system physiology	1621	DBH	ORPHA:230
HP:0012874	Abnormal male reproductive system physiology	1621	DBH	OMIM:223360
HP:0012874	Abnormal male reproductive system physiology	10388	SYCP2	OMIM:258150
HP:0012874	Abnormal male reproductive system physiology	375307	CATIP	OMIM:619379
HP:0012874	Abnormal male reproductive system physiology	254528	MEIOB	OMIM:617706
HP:0012874	Abnormal male reproductive system physiology	2516	NR5A1	OMIM:613957
HP:0012874	Abnormal male reproductive system physiology	56154	TEX15	OMIM:617960
HP:0012874	Abnormal male reproductive system physiology	122402	TDRD9	OMIM:618110
HP:0012874	Abnormal male reproductive system physiology	154197	PNLDC1	OMIM:619528
HP:0012874	Abnormal male reproductive system physiology	4439	MSH5	OMIM:619937
HP:0012874	Abnormal male reproductive system physiology	93426	SYCE1	OMIM:616950
HP:0012874	Abnormal male reproductive system physiology	145645	TERB2	OMIM:619645
HP:0012874	Abnormal male reproductive system physiology	283847	TERB1	OMIM:619646
HP:0012874	Abnormal male reproductive system physiology	54456	MOV10L1	OMIM:619878
HP:0012874	Abnormal male reproductive system physiology	56159	TEX11	OMIM:309120
HP:0012874	Abnormal male reproductive system physiology	7516	XRCC2	OMIM:619145
HP:0012874	Abnormal male reproductive system physiology	25790	CFAP45	OMIM:619608
HP:0012874	Abnormal male reproductive system physiology	57728	WDR19	OMIM:619867
HP:0012874	Abnormal male reproductive system physiology	6253	RTN2	ORPHA:100993
HP:0012874	Abnormal male reproductive system physiology	51271	UBAP1	ORPHA:100993
HP:0012874	Abnormal male reproductive system physiology	54832	VPS13C	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	11315	PARK7	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	7345	UCHL1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	27429	HTRA2	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	120892	LRRK2	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	9829	DNAJC6	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	6622	SNCA	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	5420	PODXL	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	65018	PINK1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	8867	SYNJ1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	5071	PRKN	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	64072	CDH23	ORPHA:91347
HP:0012874	Abnormal male reproductive system physiology	64072	CDH23	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	4221	MEN1	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	9049	AIP	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	654	BMP6	ORPHA:465508
HP:0012874	Abnormal male reproductive system physiology	3077	HFE	ORPHA:465508
HP:0012874	Abnormal male reproductive system physiology	367	AR	ORPHA:481
HP:0012874	Abnormal male reproductive system physiology	2581	GALC	ORPHA:206448
HP:0012874	Abnormal male reproductive system physiology	3662	IRF4	ORPHA:3452
HP:0012874	Abnormal male reproductive system physiology	4693	NDP	ORPHA:649
HP:0012874	Abnormal male reproductive system physiology	10371	SEMA3A	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	23767	FLRT3	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	79625	NDNF	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	389549	FEZF1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	1630	DCC	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	3730	ANOS1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	54756	IL17RD	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	6663	SOX10	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	285025	CCDC141	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	8820	HESX1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	215	ABCD1	ORPHA:139399
HP:0012874	Abnormal male reproductive system physiology	3043	HBB	OMIM:603903
HP:0012875	Abnormal ejaculation	1621	DBH	ORPHA:230
HP:0012875	Abnormal ejaculation	1621	DBH	OMIM:223360
HP:0012877	Retrograde ejaculation	1621	DBH	ORPHA:230
HP:0012877	Retrograde ejaculation	1621	DBH	OMIM:223360
HP:0009818	Amelia involving the lower limbs	1009	CDH11	ORPHA:1299
HP:0009817	Aplasia involving bones of the lower limbs	64327	LMBR1	OMIM:135750
HP:0009817	Aplasia involving bones of the lower limbs	64327	LMBR1	OMIM:188740
HP:0009817	Aplasia involving bones of the lower limbs	64327	LMBR1	ORPHA:2378
HP:0009817	Aplasia involving bones of the lower limbs	79659	DYNC2H1	OMIM:613091
HP:0009817	Aplasia involving bones of the lower limbs	538	ATP7A	ORPHA:198
HP:0009817	Aplasia involving bones of the lower limbs	5307	PITX1	OMIM:119800
HP:0009817	Aplasia involving bones of the lower limbs	55636	CHD7	OMIM:214800
HP:0009817	Aplasia involving bones of the lower limbs	2737	GLI3	ORPHA:93322
HP:0009817	Aplasia involving bones of the lower limbs	9896	FIG4	ORPHA:3472
HP:0009817	Aplasia involving bones of the lower limbs	55697	VAC14	ORPHA:3472
HP:0009817	Aplasia involving bones of the lower limbs	285203	EOGT	OMIM:615297
HP:0009817	Aplasia involving bones of the lower limbs	4000	LMNA	ORPHA:2229
HP:0009817	Aplasia involving bones of the lower limbs	3782	KCNN3	OMIM:618658
HP:0009817	Aplasia involving bones of the lower limbs	8200	GDF5	ORPHA:2098
HP:0009817	Aplasia involving bones of the lower limbs	658	BMPR1B	ORPHA:2098
HP:0009820	Lower limb peromelia	64327	LMBR1	OMIM:200500
HP:0009822	Aplasia involving forearm bones	57167	SALL4	ORPHA:233
HP:0009822	Aplasia involving forearm bones	57167	SALL4	OMIM:607323
HP:0009822	Aplasia involving forearm bones	9935	MAFB	ORPHA:233
HP:0009822	Aplasia involving forearm bones	1123	CHN1	ORPHA:233
HP:0009822	Aplasia involving forearm bones	2177	FANCD2	OMIM:227646
HP:0009822	Aplasia involving forearm bones	2176	FANCC	OMIM:227645
HP:0009822	Aplasia involving forearm bones	10262	SF3B4	OMIM:154400
HP:0009822	Aplasia involving forearm bones	55120	FANCL	OMIM:614083
HP:0009822	Aplasia involving forearm bones	2263	FGFR2	OMIM:149730
HP:0009822	Aplasia involving forearm bones	2317	FLNB	ORPHA:56305
HP:0009822	Aplasia involving forearm bones	2317	FLNB	OMIM:112310
HP:0009822	Aplasia involving forearm bones	9401	RECQL4	OMIM:218600
HP:0009822	Aplasia involving forearm bones	7547	ZIC3	OMIM:314390
HP:0009822	Aplasia involving forearm bones	2178	FANCE	OMIM:600901
HP:0009822	Aplasia involving forearm bones	54101	RIPK4	OMIM:263650
HP:0009822	Aplasia involving forearm bones	2175	FANCA	OMIM:227650
HP:0009822	Aplasia involving forearm bones	7516	XRCC2	OMIM:617247
HP:0009822	Aplasia involving forearm bones	55636	CHD7	OMIM:214800
HP:0009822	Aplasia involving forearm bones	29980	DONSON	OMIM:251230
HP:0009822	Aplasia involving forearm bones	2737	GLI3	ORPHA:93322
HP:0009822	Aplasia involving forearm bones	157570	ESCO2	OMIM:268300
HP:0009822	Aplasia involving forearm bones	6910	TBX5	OMIM:142900
HP:0009822	Aplasia involving forearm bones	7476	WNT7A	ORPHA:2879
HP:0009822	Aplasia involving forearm bones	7476	WNT7A	OMIM:276820
HP:0009822	Aplasia involving forearm bones	64327	LMBR1	OMIM:200500
HP:0009822	Aplasia involving forearm bones	64327	LMBR1	ORPHA:931
HP:0009822	Aplasia involving forearm bones	6926	TBX3	OMIM:181450
HP:0009822	Aplasia involving forearm bones	9939	RBM8A	OMIM:274000
HP:0009822	Aplasia involving forearm bones	2187	FANCB	OMIM:300514
HP:0009822	Aplasia involving forearm bones	6154	RPL26	OMIM:614900
HP:0009822	Aplasia involving forearm bones	7204	TRIO	ORPHA:476126
HP:0009823	Aplasia involving bones of the upper limbs	2697	GJA1	OMIM:186100
HP:0009823	Aplasia involving bones of the upper limbs	526	ATP6V1B2	OMIM:124480
HP:0009823	Aplasia involving bones of the upper limbs	9742	IFT140	OMIM:266920
HP:0009823	Aplasia involving bones of the upper limbs	50814	NSDHL	OMIM:308050
HP:0009823	Aplasia involving bones of the upper limbs	658	BMPR1B	OMIM:609441
HP:0009823	Aplasia involving bones of the upper limbs	2263	FGFR2	OMIM:149730
HP:0009823	Aplasia involving bones of the upper limbs	7516	XRCC2	OMIM:617247
HP:0009823	Aplasia involving bones of the upper limbs	2177	FANCD2	OMIM:227646
HP:0009823	Aplasia involving bones of the upper limbs	9896	FIG4	ORPHA:3472
HP:0009823	Aplasia involving bones of the upper limbs	55697	VAC14	ORPHA:3472
HP:0009823	Aplasia involving bones of the upper limbs	64327	LMBR1	ORPHA:93321
HP:0009823	Aplasia involving bones of the upper limbs	6469	SHH	ORPHA:93321
HP:0009823	Aplasia involving bones of the upper limbs	7204	TRIO	ORPHA:476126
HP:0009823	Aplasia involving bones of the upper limbs	1954	MEGF8	OMIM:614976
HP:0009823	Aplasia involving bones of the upper limbs	4000	LMNA	OMIM:610140
HP:0002757	Recurrent fractures	8322	FZD4	OMIM:133780
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:133780
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:259770
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:607634
HP:0002757	Recurrent fractures	875	CBS	ORPHA:394
HP:0002757	Recurrent fractures	7421	VDR	ORPHA:93160
HP:0002757	Recurrent fractures	7421	VDR	OMIM:277440
HP:0002757	Recurrent fractures	79879	CCDC134	OMIM:619795
HP:0002757	Recurrent fractures	9871	SEC24D	ORPHA:2050
HP:0002757	Recurrent fractures	9871	SEC24D	OMIM:616294
HP:0002757	Recurrent fractures	5034	P4HB	ORPHA:2050
HP:0002757	Recurrent fractures	5034	P4HB	OMIM:112240
HP:0002757	Recurrent fractures	8518	ELP1	ORPHA:1764
HP:0002757	Recurrent fractures	2733	GLE1	ORPHA:1486
HP:0002757	Recurrent fractures	118429	ANTXR2	ORPHA:2176
HP:0002757	Recurrent fractures	9842	PLEKHM1	OMIM:618107
HP:0002757	Recurrent fractures	9842	PLEKHM1	ORPHA:210110
HP:0002757	Recurrent fractures	4803	NGF	OMIM:608654
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:259420
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166210
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166220
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:619115
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166200
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:259420
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:166210
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:166220
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:619120
HP:0002757	Recurrent fractures	126792	B3GALT6	OMIM:609465
HP:0002757	Recurrent fractures	126792	B3GALT6	ORPHA:536467
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:667
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:210110
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:1782
HP:0002757	Recurrent fractures	29887	SNX10	ORPHA:667
HP:0002757	Recurrent fractures	8600	TNFSF11	ORPHA:667
HP:0002757	Recurrent fractures	8600	TNFSF11	OMIM:259710
HP:0002757	Recurrent fractures	6662	SOX9	ORPHA:140
HP:0002757	Recurrent fractures	1184	CLCN5	OMIM:300009
HP:0002757	Recurrent fractures	1184	CLCN5	OMIM:300554
HP:0002757	Recurrent fractures	120227	CYP2R1	OMIM:600081
HP:0002757	Recurrent fractures	846	CASR	ORPHA:417
HP:0002757	Recurrent fractures	846	CASR	OMIM:239200
HP:0002757	Recurrent fractures	2304	FOXE1	ORPHA:319487
HP:0002757	Recurrent fractures	3026	HABP2	ORPHA:319487
HP:0002757	Recurrent fractures	9562	MINPP1	ORPHA:319487
HP:0002757	Recurrent fractures	4952	OCRL	ORPHA:534
HP:0002757	Recurrent fractures	64175	P3H1	OMIM:610915
HP:0002757	Recurrent fractures	55249	YY1AP1	OMIM:602531
HP:0002757	Recurrent fractures	4784	NFIX	OMIM:602535
HP:0002757	Recurrent fractures	4621	MYH3	OMIM:193700
HP:0002757	Recurrent fractures	10265	IRX5	OMIM:611174
HP:0002757	Recurrent fractures	6774	STAT3	ORPHA:2314
HP:0002757	Recurrent fractures	6774	STAT3	OMIM:147060
HP:0002757	Recurrent fractures	55603	TENT5A	OMIM:617952
HP:0002757	Recurrent fractures	90993	CREB3L1	OMIM:616229
HP:0002757	Recurrent fractures	92344	GORAB	OMIM:231070
HP:0002757	Recurrent fractures	92344	GORAB	ORPHA:2078
HP:0002757	Recurrent fractures	7841	MOGS	OMIM:606056
HP:0002757	Recurrent fractures	6678	SPARC	OMIM:616507
HP:0002757	Recurrent fractures	9056	SLC7A7	OMIM:222700
HP:0002757	Recurrent fractures	2778	GNAS	ORPHA:562
HP:0002757	Recurrent fractures	2778	GNAS	ORPHA:57782
HP:0002757	Recurrent fractures	4982	TNFRSF11B	OMIM:239000
HP:0002757	Recurrent fractures	4982	TNFRSF11B	ORPHA:2801
HP:0002757	Recurrent fractures	538	ATP7A	ORPHA:565
HP:0002757	Recurrent fractures	11107	PRDM5	OMIM:614170
HP:0002757	Recurrent fractures	1501	CTNND2	ORPHA:281
HP:0002757	Recurrent fractures	9037	SEMA5A	ORPHA:281
HP:0002757	Recurrent fractures	1594	CYP27B1	OMIM:264700
HP:0002757	Recurrent fractures	860	RUNX2	ORPHA:1452
HP:0002757	Recurrent fractures	649	BMP1	OMIM:614856
HP:0002757	Recurrent fractures	7471	WNT1	ORPHA:85193
HP:0002757	Recurrent fractures	7471	WNT1	OMIM:615220
HP:0002757	Recurrent fractures	22943	DKK1	ORPHA:85193
HP:0002757	Recurrent fractures	89780	WNT3A	ORPHA:85193
HP:0002757	Recurrent fractures	3418	IDH2	ORPHA:163634
HP:0002757	Recurrent fractures	3417	IDH1	ORPHA:163634
HP:0002757	Recurrent fractures	4853	NOTCH2	ORPHA:955
HP:0002757	Recurrent fractures	760	CA2	ORPHA:2785
HP:0002757	Recurrent fractures	6611	SMS	ORPHA:3063
HP:0002757	Recurrent fractures	6611	SMS	OMIM:309583
HP:0002757	Recurrent fractures	11285	B4GALT7	OMIM:130070
HP:0002757	Recurrent fractures	142680	SLC34A3	OMIM:241530
HP:0002757	Recurrent fractures	249	ALPL	OMIM:146300
HP:0002757	Recurrent fractures	5352	PLOD2	ORPHA:2771
HP:0002757	Recurrent fractures	60681	FKBP10	ORPHA:2771
HP:0002757	Recurrent fractures	60681	FKBP10	OMIM:610968
HP:0002757	Recurrent fractures	3845	KRAS	OMIM:163200
HP:0002757	Recurrent fractures	4893	NRAS	OMIM:163200
HP:0002757	Recurrent fractures	3265	HRAS	OMIM:163200
HP:0002757	Recurrent fractures	51360	MBTPS2	OMIM:301014
HP:0002757	Recurrent fractures	9276	COPB2	OMIM:619884
HP:0002757	Recurrent fractures	5159	PDGFRB	OMIM:601812
HP:0002757	Recurrent fractures	6569	SLC34A1	OMIM:613388
HP:0002757	Recurrent fractures	55898	UNC45A	OMIM:619377
HP:0002757	Recurrent fractures	11014	KDELR2	OMIM:619131
HP:0002757	Recurrent fractures	50484	RRM2B	OMIM:268315
HP:0002757	Recurrent fractures	8218	CLTCL1	ORPHA:453510
HP:0002757	Recurrent fractures	3977	LIFR	ORPHA:3206
HP:0002757	Recurrent fractures	10491	CRTAP	OMIM:610682
HP:0002757	Recurrent fractures	55315	SLC29A3	ORPHA:1782
HP:0002757	Recurrent fractures	55315	SLC29A3	ORPHA:168569
HP:0002757	Recurrent fractures	7415	VCP	ORPHA:329475
HP:0002757	Recurrent fractures	5831	PYCR1	ORPHA:2078
HP:0002757	Recurrent fractures	5479	PPIB	OMIM:259440
HP:0002757	Recurrent fractures	9321	TRIP11	ORPHA:93299
HP:0002757	Recurrent fractures	166929	SGMS2	OMIM:126550
HP:0002757	Recurrent fractures	23592	LEMD3	ORPHA:1306
HP:0002757	Recurrent fractures	387733	IFITM5	OMIM:610967
HP:0002757	Recurrent fractures	203859	ANO5	ORPHA:53697
HP:0002757	Recurrent fractures	9469	CHST3	OMIM:245600
HP:0002757	Recurrent fractures	26229	B3GAT3	OMIM:245600
HP:0002757	Recurrent fractures	55151	TMEM38B	OMIM:615066
HP:0002757	Recurrent fractures	80169	CTC1	ORPHA:1775
HP:0002757	Recurrent fractures	26277	TINF2	ORPHA:1775
HP:0002757	Recurrent fractures	55651	NHP2	ORPHA:1775
HP:0002757	Recurrent fractures	79650	USB1	ORPHA:1775
HP:0002757	Recurrent fractures	55135	WRAP53	ORPHA:1775
HP:0002757	Recurrent fractures	51750	RTEL1	ORPHA:1775
HP:0002757	Recurrent fractures	4869	NPM1	ORPHA:1775
HP:0002757	Recurrent fractures	7012	TERC	ORPHA:1775
HP:0002757	Recurrent fractures	55505	NOP10	ORPHA:1775
HP:0002757	Recurrent fractures	5073	PARN	ORPHA:1775
HP:0002757	Recurrent fractures	7015	TERT	ORPHA:1775
HP:0002757	Recurrent fractures	1736	DKC1	ORPHA:1775
HP:0002757	Recurrent fractures	7298	TYMS	ORPHA:1775
HP:0002757	Recurrent fractures	57592	ZNF687	OMIM:616833
HP:0002757	Recurrent fractures	121340	SP7	OMIM:613849
HP:0002757	Recurrent fractures	2260	FGFR1	ORPHA:478
HP:0002757	Recurrent fractures	10371	SEMA3A	ORPHA:478
HP:0002757	Recurrent fractures	81848	SPRY4	ORPHA:478
HP:0002757	Recurrent fractures	23767	FLRT3	ORPHA:478
HP:0002757	Recurrent fractures	128674	PROKR2	ORPHA:478
HP:0002757	Recurrent fractures	79625	NDNF	ORPHA:478
HP:0002757	Recurrent fractures	2253	FGF8	ORPHA:478
HP:0002757	Recurrent fractures	389549	FEZF1	ORPHA:478
HP:0002757	Recurrent fractures	1630	DCC	ORPHA:478
HP:0002757	Recurrent fractures	3730	ANOS1	ORPHA:478
HP:0002757	Recurrent fractures	54756	IL17RD	ORPHA:478
HP:0002757	Recurrent fractures	6663	SOX10	ORPHA:478
HP:0002757	Recurrent fractures	285025	CCDC141	ORPHA:478
HP:0002757	Recurrent fractures	60675	PROK2	ORPHA:478
HP:0002757	Recurrent fractures	55636	CHD7	ORPHA:478
HP:0002757	Recurrent fractures	1848	DUSP6	ORPHA:478
HP:0002757	Recurrent fractures	6870	TACR3	ORPHA:478
HP:0002757	Recurrent fractures	55717	WDR11	ORPHA:478
HP:0002757	Recurrent fractures	9394	HS6ST1	ORPHA:478
HP:0002757	Recurrent fractures	8820	HESX1	ORPHA:478
HP:0002757	Recurrent fractures	8822	FGF17	ORPHA:478
HP:0002757	Recurrent fractures	5728	PTEN	ORPHA:137608
HP:0002757	Recurrent fractures	6904	TBCD	ORPHA:496641
HP:0002757	Recurrent fractures	8878	SQSTM1	OMIM:167250
HP:0002757	Recurrent fractures	8792	TNFRSF11A	OMIM:602080
HP:0002757	Recurrent fractures	4507	MTAP	OMIM:112250
HP:0002757	Recurrent fractures	1186	CLCN7	OMIM:166600
HP:0002757	Recurrent fractures	202018	TAPT1	OMIM:616897
HP:0002757	Recurrent fractures	3930	LBR	OMIM:215140
HP:0002757	Recurrent fractures	55503	TRPV6	OMIM:618188
HP:0002661	Painless fractures due to injury	85446	ZFHX2	OMIM:147430
HP:0002661	Painless fractures due to injury	4803	NGF	ORPHA:64752
HP:0002661	Painless fractures due to injury	4803	NGF	OMIM:608654
HP:0002661	Painless fractures due to injury	4914	NTRK1	ORPHA:64752
HP:0002661	Painless fractures due to injury	4914	NTRK1	ORPHA:642
HP:0002661	Painless fractures due to injury	4358	MPV17	OMIM:256810
HP:0002661	Painless fractures due to injury	54463	RETREG1	OMIM:201300
HP:0002661	Painless fractures due to injury	65125	WNK1	OMIM:201300
HP:0002661	Painless fractures due to injury	6335	SCN9A	OMIM:201300
HP:0002661	Painless fractures due to injury	6335	SCN9A	OMIM:243000
HP:0002661	Painless fractures due to injury	547	KIF1A	OMIM:201300
HP:0002663	Delayed epiphyseal ossification	1311	COMP	ORPHA:750
HP:0002663	Delayed epiphyseal ossification	1311	COMP	OMIM:177170
HP:0002663	Delayed epiphyseal ossification	1311	COMP	OMIM:132400
HP:0002663	Delayed epiphyseal ossification	1311	COMP	ORPHA:93308
HP:0002663	Delayed epiphyseal ossification	3835	KIF22	ORPHA:93360
HP:0002663	Delayed epiphyseal ossification	65992	DDRGK1	OMIM:602557
HP:0002663	Delayed epiphyseal ossification	65992	DDRGK1	ORPHA:93352
HP:0002663	Delayed epiphyseal ossification	1184	CLCN5	OMIM:300554
HP:0002663	Delayed epiphyseal ossification	1184	CLCN5	OMIM:300009
HP:0002663	Delayed epiphyseal ossification	142680	SLC34A3	OMIM:241530
HP:0002663	Delayed epiphyseal ossification	1594	CYP27B1	ORPHA:289157
HP:0002663	Delayed epiphyseal ossification	1594	CYP27B1	OMIM:264700
HP:0002663	Delayed epiphyseal ossification	120227	CYP2R1	ORPHA:289157
HP:0002663	Delayed epiphyseal ossification	120227	CYP2R1	OMIM:600081
HP:0002663	Delayed epiphyseal ossification	55699	IARS2	OMIM:616007
HP:0002663	Delayed epiphyseal ossification	100151683	RNU4ATAC	OMIM:210710
HP:0002663	Delayed epiphyseal ossification	23761	PISD	OMIM:618889
HP:0002663	Delayed epiphyseal ossification	4796	TONSL	ORPHA:93357
HP:0002663	Delayed epiphyseal ossification	59341	TRPV4	ORPHA:93314
HP:0002663	Delayed epiphyseal ossification	5745	PTH1R	ORPHA:79106
HP:0002663	Delayed epiphyseal ossification	5745	PTH1R	OMIM:600002
HP:0002663	Delayed epiphyseal ossification	1280	COL2A1	ORPHA:485
HP:0002663	Delayed epiphyseal ossification	1280	COL2A1	OMIM:156550
HP:0002663	Delayed epiphyseal ossification	2099	ESR1	ORPHA:785
HP:0002663	Delayed epiphyseal ossification	1299	COL9A3	OMIM:600969
HP:0002663	Delayed epiphyseal ossification	51025	PAM16	OMIM:613320
HP:0002663	Delayed epiphyseal ossification	7421	VDR	OMIM:277440
HP:0002663	Delayed epiphyseal ossification	406932	MIR140	OMIM:618618
HP:0002663	Delayed epiphyseal ossification	6662	SOX9	OMIM:114290
HP:0002663	Delayed epiphyseal ossification	2263	FGFR2	OMIM:101200
HP:0002663	Delayed epiphyseal ossification	1588	CYP19A1	ORPHA:91
HP:0002663	Delayed epiphyseal ossification	374654	KIF7	ORPHA:166024
HP:0002663	Delayed epiphyseal ossification	2879	GPX4	OMIM:250220
HP:0002663	Delayed epiphyseal ossification	3756	KCNH1	ORPHA:420561
HP:0002663	Delayed epiphyseal ossification	5626	PROP1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	89884	LHX4	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	8022	LHX3	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	5449	POU1F1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	8820	HESX1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	405753	DUOXA2	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	6528	SLC5A5	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	7038	TG	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	7173	TPO	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	389434	IYD	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	50506	DUOX2	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	4148	MATN3	ORPHA:93311
HP:0002663	Delayed epiphyseal ossification	7253	TSHR	ORPHA:90673
HP:0002663	Delayed epiphyseal ossification	7252	TSHB	ORPHA:90674
HP:0002663	Delayed epiphyseal ossification	126792	B3GALT6	OMIM:271640
HP:0002665	Lymphoma	3561	IL2RG	ORPHA:276
HP:0002665	Lymphoma	3561	IL2RG	ORPHA:39041
HP:0002665	Lymphoma	3981	LIG4	ORPHA:235
HP:0002665	Lymphoma	3981	LIG4	ORPHA:99812
HP:0002665	Lymphoma	3981	LIG4	ORPHA:39041
HP:0002665	Lymphoma	54888	NSUN2	ORPHA:235
HP:0002665	Lymphoma	8438	RAD54L	OMIM:605027
HP:0002665	Lymphoma	25788	RAD54B	OMIM:605027
HP:0002665	Lymphoma	5551	PRF1	OMIM:605027
HP:0002665	Lymphoma	6023	RMRP	OMIM:250250
HP:0002665	Lymphoma	6023	RMRP	ORPHA:39041
HP:0002665	Lymphoma	9401	RECQL4	ORPHA:221016
HP:0002665	Lymphoma	9401	RECQL4	ORPHA:1225
HP:0002665	Lymphoma	4860	PNP	OMIM:613179
HP:0002665	Lymphoma	171023	ASXL1	ORPHA:98849
HP:0002665	Lymphoma	54790	TET2	ORPHA:98849
HP:0002665	Lymphoma	54790	TET2	OMIM:619126
HP:0002665	Lymphoma	3815	KIT	ORPHA:98849
HP:0002665	Lymphoma	6427	SRSF2	ORPHA:98849
HP:0002665	Lymphoma	324	APC	ORPHA:99818
HP:0002665	Lymphoma	987	LRBA	OMIM:614700
HP:0002665	Lymphoma	7454	WAS	ORPHA:906
HP:0002665	Lymphoma	7456	WIPF1	ORPHA:906
HP:0002665	Lymphoma	5728	PTEN	ORPHA:109
HP:0002665	Lymphoma	7518	XRCC4	ORPHA:99812
HP:0002665	Lymphoma	5925	RB1	OMIM:180200
HP:0002665	Lymphoma	55636	CHD7	ORPHA:39041
HP:0002665	Lymphoma	5896	RAG1	ORPHA:39041
HP:0002665	Lymphoma	5897	RAG2	ORPHA:39041
HP:0002665	Lymphoma	64421	DCLRE1C	ORPHA:39041
HP:0002665	Lymphoma	3575	IL7R	ORPHA:39041
HP:0002665	Lymphoma	1776	DNASE1L3	ORPHA:36412
HP:0002665	Lymphoma	596	BCL2	ORPHA:545
HP:0002665	Lymphoma	3123	HLA-DRB1	ORPHA:545
HP:0002665	Lymphoma	604	BCL6	ORPHA:545
HP:0002665	Lymphoma	3845	KRAS	OMIM:614470
HP:0002665	Lymphoma	4893	NRAS	OMIM:614470
HP:0002665	Lymphoma	3832	KIF11	ORPHA:2526
HP:0002665	Lymphoma	641	BLM	OMIM:210900
HP:0002665	Lymphoma	641	BLM	ORPHA:125
HP:0002665	Lymphoma	331	XIAP	OMIM:308240
HP:0002665	Lymphoma	4068	SH2D1A	OMIM:308240
HP:0002665	Lymphoma	23495	TNFRSF13B	OMIM:240500
HP:0002665	Lymphoma	23495	TNFRSF13B	ORPHA:1572
HP:0002665	Lymphoma	115650	TNFRSF13C	OMIM:240500
HP:0002665	Lymphoma	115650	TNFRSF13C	ORPHA:1572
HP:0002665	Lymphoma	1380	CR2	OMIM:240500
HP:0002665	Lymphoma	1380	CR2	ORPHA:1572
HP:0002665	Lymphoma	29851	ICOS	OMIM:240500
HP:0002665	Lymphoma	29851	ICOS	ORPHA:1572
HP:0002665	Lymphoma	930	CD19	OMIM:240500
HP:0002665	Lymphoma	930	CD19	ORPHA:1572
HP:0002665	Lymphoma	3117	HLA-DQA1	OMIM:212750
HP:0002665	Lymphoma	3119	HLA-DQB1	OMIM:212750
HP:0002665	Lymphoma	3514	IGKC	ORPHA:183675
HP:0002665	Lymphoma	3501	IGHG2	ORPHA:183675
HP:0002665	Lymphoma	861	RUNX1	OMIM:601399
HP:0002665	Lymphoma	4615	MYD88	ORPHA:33226
HP:0002665	Lymphoma	4615	MYD88	OMIM:153600
HP:0002665	Lymphoma	51428	DDX41	OMIM:616871
HP:0002665	Lymphoma	8626	TP63	ORPHA:1896
HP:0002665	Lymphoma	80169	CTC1	ORPHA:1775
HP:0002665	Lymphoma	26277	TINF2	ORPHA:1775
HP:0002665	Lymphoma	55651	NHP2	ORPHA:1775
HP:0002665	Lymphoma	79650	USB1	ORPHA:1775
HP:0002665	Lymphoma	55135	WRAP53	ORPHA:1775
HP:0002665	Lymphoma	51750	RTEL1	ORPHA:1775
HP:0002665	Lymphoma	4869	NPM1	ORPHA:1775
HP:0002665	Lymphoma	7012	TERC	ORPHA:1775
HP:0002665	Lymphoma	55505	NOP10	ORPHA:1775
HP:0002665	Lymphoma	5073	PARN	ORPHA:1775
HP:0002665	Lymphoma	7015	TERT	ORPHA:1775
HP:0002665	Lymphoma	7298	TYMS	ORPHA:1775
HP:0002665	Lymphoma	4790	NFKB1	ORPHA:1572
HP:0002665	Lymphoma	4791	NFKB2	ORPHA:1572
HP:0002665	Lymphoma	8742	TNFSF12	ORPHA:1572
HP:0002665	Lymphoma	931	MS4A1	ORPHA:1572
HP:0002665	Lymphoma	975	CD81	ORPHA:1572
HP:0002665	Lymphoma	359948	IRF2BP2	ORPHA:1572
HP:0002665	Lymphoma	7535	ZAP70	ORPHA:911
HP:0002665	Lymphoma	970	CD70	OMIM:618261
HP:0002665	Lymphoma	84061	MAGT1	OMIM:300853
HP:0002665	Lymphoma	54894	RNF43	ORPHA:157798
HP:0002665	Lymphoma	939	CD27	OMIM:615122
HP:0002665	Lymphoma	3702	ITK	OMIM:613011
HP:0002665	Lymphoma	50619	DEF6	OMIM:619573
HP:0002665	Lymphoma	8651	SOCS1	OMIM:619375
HP:0002665	Lymphoma	6774	STAT3	OMIM:615952
HP:0002665	Lymphoma	5426	POLE	OMIM:618336
HP:0002665	Lymphoma	5238	PGM3	OMIM:615816
HP:0002665	Lymphoma	1736	DKC1	OMIM:305000
HP:0002665	Lymphoma	6925	TCF4	ORPHA:2896
HP:0002665	Lymphoma	200942	KLHDC8B	OMIM:236000
HP:0002665	Lymphoma	7373	COL14A1	ORPHA:79501
HP:0002665	Lymphoma	79719	AAGAB	ORPHA:79501
HP:0002665	Lymphoma	2956	MSH6	OMIM:619097
HP:0002665	Lymphoma	4683	NBN	ORPHA:647
HP:0002665	Lymphoma	57217	TTC7A	OMIM:243150
HP:0002665	Lymphoma	6850	SYK	OMIM:619381
HP:0002665	Lymphoma	595	CCND1	ORPHA:52416
HP:0002665	Lymphoma	3492	IGH	ORPHA:52416
HP:0002665	Lymphoma	3492	IGH	ORPHA:52417
HP:0002665	Lymphoma	330	BIRC3	ORPHA:52417
HP:0002665	Lymphoma	10892	MALT1	ORPHA:52417
HP:0002665	Lymphoma	27086	FOXP1	ORPHA:52417
HP:0002665	Lymphoma	23149	FCHO1	OMIM:619164
HP:0002665	Lymphoma	100	ADA	OMIM:102700
HP:0002665	Lymphoma	5788	PTPRC	OMIM:619924
HP:0002665	Lymphoma	5295	PIK3R1	OMIM:616005
HP:0002665	Lymphoma	22806	IKZF3	OMIM:619437
HP:0002665	Lymphoma	4773	NFATC2	OMIM:620232
HP:0002665	Lymphoma	1493	CTLA4	ORPHA:3162
HP:0002665	Lymphoma	1493	CTLA4	ORPHA:2584
HP:0002665	Lymphoma	940	CD28	ORPHA:3162
HP:0002665	Lymphoma	940	CD28	ORPHA:2584
HP:0002665	Lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0002665	Lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0002665	Lymphoma	50485	SMARCAL1	ORPHA:1830
HP:0002665	Lymphoma	472	ATM	OMIM:208900
HP:0002665	Lymphoma	355	FAS	ORPHA:3261
HP:0002665	Lymphoma	356	FASLG	ORPHA:3261
HP:0002665	Lymphoma	5580	PRKCD	ORPHA:3261
HP:0002665	Lymphoma	843	CASP10	ORPHA:3261
HP:0002665	Lymphoma	10125	RASGRP1	ORPHA:3261
HP:0002665	Lymphoma	4292	MLH1	OMIM:276300
HP:0002665	Lymphoma	7157	TP53	ORPHA:524
HP:0002665	Lymphoma	1029	CDKN2A	ORPHA:524
HP:0002665	Lymphoma	4193	MDM2	ORPHA:524
HP:0002665	Lymphoma	11200	CHEK2	ORPHA:524
HP:0002665	Lymphoma	4913	NTHL1	ORPHA:454840
HP:0002665	Lymphoma	5395	PMS2	OMIM:619101
HP:0002665	Lymphoma	399	RHOH	OMIM:618307
HP:0002665	Lymphoma	4609	MYC	OMIM:113970
HP:0002665	Lymphoma	84868	HAVCR2	OMIM:618398
HP:0002665	Lymphoma	8915	BCL10	OMIM:137245
HP:0002666	Pheochromocytoma	5573	PRKAR1A	OMIM:160980
HP:0002666	Pheochromocytoma	4221	MEN1	ORPHA:652
HP:0002666	Pheochromocytoma	1027	CDKN1B	ORPHA:652
HP:0002666	Pheochromocytoma	1026	CDKN1A	ORPHA:652
HP:0002666	Pheochromocytoma	1030	CDKN2B	ORPHA:652
HP:0002666	Pheochromocytoma	1031	CDKN2C	ORPHA:652
HP:0002666	Pheochromocytoma	3458	IFNG	ORPHA:805
HP:0002666	Pheochromocytoma	7248	TSC1	ORPHA:805
HP:0002666	Pheochromocytoma	7249	TSC2	ORPHA:805
HP:0002666	Pheochromocytoma	3265	HRAS	ORPHA:2874
HP:0002666	Pheochromocytoma	7428	VHL	ORPHA:29072
HP:0002666	Pheochromocytoma	7428	VHL	ORPHA:276621
HP:0002666	Pheochromocytoma	1743	DLST	ORPHA:29072
HP:0002666	Pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0002666	Pheochromocytoma	5979	RET	ORPHA:29072
HP:0002666	Pheochromocytoma	5979	RET	ORPHA:276621
HP:0002666	Pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0002666	Pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0002666	Pheochromocytoma	2271	FH	ORPHA:29072
HP:0002666	Pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0002666	Pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0002666	Pheochromocytoma	55654	TMEM127	ORPHA:29072
HP:0002666	Pheochromocytoma	4763	NF1	ORPHA:29072
HP:0002666	Pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0002666	Pheochromocytoma	6391	SDHC	OMIM:605373
HP:0002666	Pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0002666	Pheochromocytoma	6392	SDHD	OMIM:168000
HP:0002666	Pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0002666	Pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0002666	Pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0002666	Pheochromocytoma	6390	SDHB	OMIM:115310
HP:0002666	Pheochromocytoma	4149	MAX	ORPHA:29072
HP:0002666	Pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0002666	Pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0002666	Pheochromocytoma	595	CCND1	ORPHA:892
HP:0002667	Nephroblastoma	5290	PIK3CA	OMIM:612918
HP:0002667	Nephroblastoma	5290	PIK3CA	ORPHA:276280
HP:0002667	Nephroblastoma	5290	PIK3CA	OMIM:602501
HP:0002667	Nephroblastoma	129563	DIS3L2	OMIM:267000
HP:0002667	Nephroblastoma	129563	DIS3L2	ORPHA:2849
HP:0002667	Nephroblastoma	129563	DIS3L2	ORPHA:654
HP:0002667	Nephroblastoma	11281	POU6F2	OMIM:601583
HP:0002667	Nephroblastoma	11281	POU6F2	ORPHA:654
HP:0002667	Nephroblastoma	23405	DICER1	OMIM:180295
HP:0002667	Nephroblastoma	23405	DICER1	OMIM:618272
HP:0002667	Nephroblastoma	716	C1S	OMIM:617174
HP:0002667	Nephroblastoma	9158	FIBP	ORPHA:500095
HP:0002667	Nephroblastoma	9158	FIBP	OMIM:617107
HP:0002667	Nephroblastoma	9759	HDAC4	ORPHA:1001
HP:0002667	Nephroblastoma	5978	REST	OMIM:616806
HP:0002667	Nephroblastoma	5978	REST	ORPHA:654
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:347
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:220
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:654
HP:0002667	Nephroblastoma	7490	WT1	OMIM:256370
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194080
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:251510
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194072
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194070
HP:0002667	Nephroblastoma	2132	EXT2	ORPHA:52022
HP:0002667	Nephroblastoma	60529	ALX4	ORPHA:52022
HP:0002667	Nephroblastoma	51317	PHF21A	ORPHA:52022
HP:0002667	Nephroblastoma	79577	CDC73	ORPHA:143
HP:0002667	Nephroblastoma	79577	CDC73	OMIM:145001
HP:0002667	Nephroblastoma	79577	CDC73	ORPHA:99880
HP:0002667	Nephroblastoma	675	BRCA2	OMIM:613029
HP:0002667	Nephroblastoma	675	BRCA2	ORPHA:654
HP:0002667	Nephroblastoma	675	BRCA2	OMIM:194070
HP:0002667	Nephroblastoma	79728	PALB2	OMIM:610832
HP:0002667	Nephroblastoma	9319	TRIP13	ORPHA:654
HP:0002667	Nephroblastoma	9319	TRIP13	OMIM:617598
HP:0002667	Nephroblastoma	9319	TRIP13	ORPHA:1052
HP:0002667	Nephroblastoma	10155	TRIM28	ORPHA:654
HP:0002667	Nephroblastoma	2719	GPC3	ORPHA:654
HP:0002667	Nephroblastoma	2719	GPC3	ORPHA:373
HP:0002667	Nephroblastoma	2719	GPC3	OMIM:312870
HP:0002667	Nephroblastoma	2719	GPC3	OMIM:194070
HP:0002667	Nephroblastoma	283120	H19	ORPHA:654
HP:0002667	Nephroblastoma	283120	H19	ORPHA:2128
HP:0002667	Nephroblastoma	283120	H19	OMIM:194070
HP:0002667	Nephroblastoma	3481	IGF2	ORPHA:2128
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:130650
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:180860
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:194070
HP:0002667	Nephroblastoma	10984	KCNQ1OT1	ORPHA:2128
HP:0002667	Nephroblastoma	10984	KCNQ1OT1	OMIM:130650
HP:0002667	Nephroblastoma	2239	GPC4	ORPHA:373
HP:0002667	Nephroblastoma	2239	GPC4	OMIM:312870
HP:0002667	Nephroblastoma	2239	GPC4	OMIM:194070
HP:0002667	Nephroblastoma	1028	CDKN1C	OMIM:130650
HP:0002667	Nephroblastoma	3784	KCNQ1	OMIM:130650
HP:0002667	Nephroblastoma	7157	TP53	OMIM:151623
HP:0002667	Nephroblastoma	3265	HRAS	ORPHA:2874
HP:0002667	Nephroblastoma	701	BUB1B	OMIM:257300
HP:0002667	Nephroblastoma	701	BUB1B	ORPHA:1052
HP:0002667	Nephroblastoma	5727	PTCH1	ORPHA:77301
HP:0002667	Nephroblastoma	641	BLM	ORPHA:125
HP:0002667	Nephroblastoma	171023	ASXL1	ORPHA:97297
HP:0002667	Nephroblastoma	9184	BUB3	ORPHA:1052
HP:0002667	Nephroblastoma	699	BUB1	ORPHA:1052
HP:0002667	Nephroblastoma	9702	CEP57	ORPHA:1052
HP:0002667	Nephroblastoma	4591	TRIM37	OMIM:253250
HP:0002667	Nephroblastoma	6662	SOX9	ORPHA:251510
HP:0002667	Nephroblastoma	6845	VAMP7	ORPHA:251510
HP:0002667	Nephroblastoma	51741	WWOX	ORPHA:251510
HP:0002667	Nephroblastoma	4214	MAP3K1	ORPHA:251510
HP:0002667	Nephroblastoma	2516	NR5A1	ORPHA:251510
HP:0002667	Nephroblastoma	58524	DMRT3	ORPHA:251510
HP:0002667	Nephroblastoma	57647	DHX37	ORPHA:251510
HP:0002667	Nephroblastoma	6736	SRY	ORPHA:251510
HP:0002667	Nephroblastoma	23414	ZFPM2	ORPHA:251510
HP:0002667	Nephroblastoma	190	NR0B1	ORPHA:251510
HP:0002667	Nephroblastoma	2626	GATA4	ORPHA:251510
HP:0002667	Nephroblastoma	161742	SPRED1	ORPHA:137605
HP:0002667	Nephroblastoma	5080	PAX6	OMIM:194072
HP:0002667	Nephroblastoma	26040	SETBP1	ORPHA:798
HP:0002668	Paraganglioma	7428	VHL	ORPHA:892
HP:0002668	Paraganglioma	7428	VHL	ORPHA:29072
HP:0002668	Paraganglioma	7428	VHL	OMIM:193300
HP:0002668	Paraganglioma	7428	VHL	ORPHA:276621
HP:0002668	Paraganglioma	595	CCND1	ORPHA:892
HP:0002668	Paraganglioma	595	CCND1	OMIM:193300
HP:0002668	Paraganglioma	1616	DAXX	ORPHA:100075
HP:0002668	Paraganglioma	546	ATRX	ORPHA:100075
HP:0002668	Paraganglioma	8402	SLC25A11	OMIM:618464
HP:0002668	Paraganglioma	8402	SLC25A11	ORPHA:29072
HP:0002668	Paraganglioma	1743	DLST	OMIM:618475
HP:0002668	Paraganglioma	1743	DLST	ORPHA:29072
HP:0002668	Paraganglioma	6389	SDHA	OMIM:614165
HP:0002668	Paraganglioma	6389	SDHA	ORPHA:29072
HP:0002668	Paraganglioma	4191	MDH2	ORPHA:29072
HP:0002668	Paraganglioma	5979	RET	ORPHA:29072
HP:0002668	Paraganglioma	5979	RET	ORPHA:276621
HP:0002668	Paraganglioma	23095	KIF1B	ORPHA:29072
HP:0002668	Paraganglioma	2271	FH	ORPHA:29072
HP:0002668	Paraganglioma	55654	TMEM127	ORPHA:29072
HP:0002668	Paraganglioma	4149	MAX	ORPHA:29072
HP:0002668	Paraganglioma	1788	DNMT3A	ORPHA:276621
HP:0002668	Paraganglioma	2034	EPAS1	ORPHA:276621
HP:0002668	Paraganglioma	4763	NF1	ORPHA:97685
HP:0002668	Paraganglioma	6390	SDHB	OMIM:115310
HP:0002668	Paraganglioma	6391	SDHC	OMIM:605373
HP:0002668	Paraganglioma	54949	SDHAF2	OMIM:601650
HP:0002668	Paraganglioma	6392	SDHD	OMIM:168000
HP:0002669	Osteosarcoma	9401	RECQL4	OMIM:268400
HP:0002669	Osteosarcoma	9401	RECQL4	ORPHA:1225
HP:0002669	Osteosarcoma	9401	RECQL4	ORPHA:221016
HP:0002669	Osteosarcoma	55027	HEATR3	OMIM:620072
HP:0002669	Osteosarcoma	6135	RPL11	ORPHA:124
HP:0002669	Osteosarcoma	6138	RPL15	ORPHA:124
HP:0002669	Osteosarcoma	6229	RPS24	ORPHA:124
HP:0002669	Osteosarcoma	6125	RPL5	ORPHA:124
HP:0002669	Osteosarcoma	6204	RPS10	ORPHA:124
HP:0002669	Osteosarcoma	6224	RPS20	ORPHA:124
HP:0002669	Osteosarcoma	6165	RPL35A	ORPHA:124
HP:0002669	Osteosarcoma	2623	GATA1	ORPHA:124
HP:0002669	Osteosarcoma	6223	RPS19	ORPHA:124
HP:0002669	Osteosarcoma	6223	RPS19	OMIM:105650
HP:0002669	Osteosarcoma	6232	RPS27	ORPHA:124
HP:0002669	Osteosarcoma	6231	RPS26	ORPHA:124
HP:0002669	Osteosarcoma	11224	RPL35	ORPHA:124
HP:0002669	Osteosarcoma	6160	RPL31	ORPHA:124
HP:0002669	Osteosarcoma	6218	RPS17	ORPHA:124
HP:0002669	Osteosarcoma	6201	RPS7	ORPHA:124
HP:0002669	Osteosarcoma	6155	RPL27	ORPHA:124
HP:0002669	Osteosarcoma	6154	RPL26	ORPHA:124
HP:0002669	Osteosarcoma	6210	RPS15A	ORPHA:124
HP:0002669	Osteosarcoma	90121	TSR2	ORPHA:124
HP:0002669	Osteosarcoma	6141	RPL18	ORPHA:124
HP:0002669	Osteosarcoma	6235	RPS29	ORPHA:124
HP:0002669	Osteosarcoma	6234	RPS28	ORPHA:124
HP:0002669	Osteosarcoma	51816	ADA2	ORPHA:124
HP:0002669	Osteosarcoma	4507	MTAP	OMIM:112250
HP:0002669	Osteosarcoma	7157	TP53	OMIM:151623
HP:0002669	Osteosarcoma	7157	TP53	OMIM:260500
HP:0002669	Osteosarcoma	7157	TP53	ORPHA:524
HP:0002669	Osteosarcoma	7157	TP53	OMIM:259500
HP:0002669	Osteosarcoma	8878	SQSTM1	OMIM:167250
HP:0002669	Osteosarcoma	7486	WRN	OMIM:277700
HP:0002669	Osteosarcoma	4000	LMNA	ORPHA:79474
HP:0002669	Osteosarcoma	5925	RB1	OMIM:180200
HP:0002669	Osteosarcoma	5925	RB1	OMIM:259500
HP:0002669	Osteosarcoma	1029	CDKN2A	ORPHA:524
HP:0002669	Osteosarcoma	4193	MDM2	ORPHA:524
HP:0002669	Osteosarcoma	11200	CHEK2	ORPHA:524
HP:0002669	Osteosarcoma	11200	CHEK2	OMIM:259500
HP:0002669	Osteosarcoma	64682	ANAPC1	ORPHA:221008
HP:0012880	Abnormal labia minora morphology	471	ATIC	ORPHA:250977
HP:0012880	Abnormal labia minora morphology	471	ATIC	OMIM:608688
HP:0012880	Abnormal labia minora morphology	5447	POR	OMIM:207410
HP:0012880	Abnormal labia minora morphology	2263	FGFR2	OMIM:207410
HP:0012880	Abnormal labia minora morphology	23414	ZFPM2	OMIM:616067
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:398069
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	OMIM:176270
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	2571	GAD1	OMIM:619124
HP:0012880	Abnormal labia minora morphology	4998	ORC1	OMIM:224690
HP:0012880	Abnormal labia minora morphology	4998	ORC1	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	1857	DVL3	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	7474	WNT5A	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	1855	DVL1	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	2535	FZD2	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	22931	RAB18	OMIM:614222
HP:0012880	Abnormal labia minora morphology	22931	RAB18	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	117581	TWIST2	OMIM:209885
HP:0012880	Abnormal labia minora morphology	6492	SIM1	ORPHA:398079
HP:0012880	Abnormal labia minora morphology	60	ACTB	ORPHA:64755
HP:0012880	Abnormal labia minora morphology	26040	SETBP1	OMIM:269150
HP:0012880	Abnormal labia minora morphology	23594	ORC6	OMIM:613803
HP:0012880	Abnormal labia minora morphology	23594	ORC6	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	81620	CDT1	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	5000	ORC4	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	8318	CDC45	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	990	CDC6	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	51053	GMNN	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	128637	TBC1D20	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	7681	MKRN3	OMIM:176270
HP:0012880	Abnormal labia minora morphology	3653	IPW	OMIM:176270
HP:0012880	Abnormal labia minora morphology	791114	PWRN1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	100033413	SNORD116-1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	8924	HERC2	OMIM:176270
HP:0012880	Abnormal labia minora morphology	145624	PWAR1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	23742	NPAP1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	338433	SNORD115-1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	23522	KAT6B	OMIM:606170
HP:0012880	Abnormal labia minora morphology	157570	ESCO2	OMIM:268300
HP:0012881	Abnormal labia majora morphology	23476	BRD4	ORPHA:199
HP:0012881	Abnormal labia majora morphology	9126	SMC3	ORPHA:199
HP:0012881	Abnormal labia majora morphology	8243	SMC1A	ORPHA:199
HP:0012881	Abnormal labia majora morphology	25836	NIPBL	ORPHA:199
HP:0012881	Abnormal labia majora morphology	25836	NIPBL	OMIM:122470
HP:0012881	Abnormal labia majora morphology	55869	HDAC8	ORPHA:199
HP:0012881	Abnormal labia majora morphology	5885	RAD21	ORPHA:199
HP:0012881	Abnormal labia majora morphology	4920	ROR2	OMIM:268310
HP:0012881	Abnormal labia majora morphology	10664	CTCF	ORPHA:363611
HP:0012881	Abnormal labia majora morphology	4998	ORC1	OMIM:224690
HP:0012881	Abnormal labia majora morphology	4998	ORC1	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	2100	ESR2	OMIM:618187
HP:0012881	Abnormal labia majora morphology	145173	B3GLCT	OMIM:261540
HP:0012881	Abnormal labia majora morphology	1857	DVL3	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	7474	WNT5A	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	7474	WNT5A	OMIM:180700
HP:0012881	Abnormal labia majora morphology	1855	DVL1	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	1855	DVL1	OMIM:180700
HP:0012881	Abnormal labia majora morphology	2535	FZD2	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	25782	RAB3GAP2	OMIM:614225
HP:0012881	Abnormal labia majora morphology	3664	IRF6	ORPHA:1300
HP:0012881	Abnormal labia majora morphology	3664	IRF6	OMIM:119500
HP:0012881	Abnormal labia majora morphology	29957	SLC25A24	OMIM:612289
HP:0012881	Abnormal labia majora morphology	117581	TWIST2	OMIM:209885
HP:0012881	Abnormal labia majora morphology	117581	TWIST2	OMIM:200110
HP:0012881	Abnormal labia majora morphology	8626	TP63	OMIM:129400
HP:0012881	Abnormal labia majora morphology	81620	CDT1	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	5000	ORC4	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	5000	ORC4	OMIM:613800
HP:0012881	Abnormal labia majora morphology	23594	ORC6	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	8318	CDC45	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	990	CDC6	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	51053	GMNN	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	51053	GMNN	OMIM:616835
HP:0012881	Abnormal labia majora morphology	23347	SMCHD1	OMIM:603457
HP:0012881	Abnormal labia majora morphology	9896	FIG4	ORPHA:3472
HP:0012881	Abnormal labia majora morphology	55697	VAC14	ORPHA:3472
HP:0012881	Abnormal labia majora morphology	2571	GAD1	OMIM:619124
HP:0012881	Abnormal labia majora morphology	54101	RIPK4	OMIM:263650
HP:0012881	Abnormal labia majora morphology	89910	UBE3B	OMIM:244450
HP:0012881	Abnormal labia majora morphology	9427	ECEL1	OMIM:615065
HP:0012881	Abnormal labia majora morphology	55012	PPP2R3C	OMIM:618419
HP:0012881	Abnormal labia majora morphology	2263	FGFR2	OMIM:207410
HP:0012881	Abnormal labia majora morphology	2263	FGFR2	OMIM:123790
HP:0012881	Abnormal labia majora morphology	26040	SETBP1	OMIM:269150
HP:0012881	Abnormal labia majora morphology	1146	CHRNG	OMIM:265000
HP:0012881	Abnormal labia majora morphology	1146	CHRNG	ORPHA:2990
HP:0012881	Abnormal labia majora morphology	4621	MYH3	ORPHA:2990
HP:0012881	Abnormal labia majora morphology	3991	LIPE	ORPHA:435660
HP:0012881	Abnormal labia majora morphology	3284	HSD3B2	ORPHA:90791
HP:0012881	Abnormal labia majora morphology	5373	PMM2	ORPHA:79318
HP:0012881	Abnormal labia majora morphology	367	AR	ORPHA:90797
HP:0012881	Abnormal labia majora morphology	2516	NR5A1	OMIM:617480
HP:0012881	Abnormal labia majora morphology	5447	POR	OMIM:201750
HP:0012881	Abnormal labia majora morphology	5447	POR	ORPHA:95699
HP:0012882	Hyperplastic labia majora	5373	PMM2	ORPHA:79318
HP:0012886	Hemorrhagic ovarian cyst	5618	PRLR	ORPHA:397685
HP:0012886	Hemorrhagic ovarian cyst	2492	FSHR	ORPHA:64739
HP:0012887	Ovarian serous cystadenoma	5290	PIK3CA	ORPHA:276280
HP:0012887	Ovarian serous cystadenoma	6736	SRY	ORPHA:1772
HP:0012887	Ovarian serous cystadenoma	5573	PRKAR1A	ORPHA:1359
HP:0012887	Ovarian serous cystadenoma	50940	PDE11A	ORPHA:1359
HP:0012888	Abnormal uterine cervix morphology	367	AR	ORPHA:99429
HP:0012888	Abnormal uterine cervix morphology	1281	COL3A1	OMIM:130050
HP:0012888	Abnormal uterine cervix morphology	1277	COL1A1	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	1289	COL5A1	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	1290	COL5A2	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	6736	SRY	ORPHA:1772
HP:0012888	Abnormal uterine cervix morphology	6794	STK11	ORPHA:2869
HP:0012888	Abnormal uterine cervix morphology	7852	CXCR4	ORPHA:51636
HP:0012888	Abnormal uterine cervix morphology	2261	FGFR3	OMIM:603956
HP:0012888	Abnormal uterine cervix morphology	1027	CDKN1B	ORPHA:276152
HP:0012888	Abnormal uterine cervix morphology	5340	PLG	ORPHA:722
HP:0012888	Abnormal uterine cervix morphology	2624	GATA2	OMIM:614172
HP:0009827	Amelia	7473	WNT3	OMIM:273395
HP:0009827	Amelia	7473	WNT3	ORPHA:3301
HP:0009827	Amelia	1009	CDH11	ORPHA:1299
HP:0009827	Amelia	340419	RSPO2	OMIM:618021
HP:0009827	Amelia	9496	TBX4	OMIM:601360
HP:0009829	Phocomelia	64327	LMBR1	ORPHA:931
HP:0009829	Phocomelia	6910	TBX5	OMIM:142900
HP:0009829	Phocomelia	6910	TBX5	ORPHA:392
HP:0009829	Phocomelia	10262	SF3B4	ORPHA:245
HP:0009829	Phocomelia	25836	NIPBL	OMIM:122470
HP:0009829	Phocomelia	7476	WNT7A	OMIM:276820
HP:0009829	Phocomelia	9939	RBM8A	ORPHA:3320
HP:0009829	Phocomelia	9939	RBM8A	OMIM:274000
HP:0009829	Phocomelia	157570	ESCO2	OMIM:268300
HP:0009829	Phocomelia	3930	LBR	OMIM:215140
HP:0009828	Peromelia	1009	CDH11	ORPHA:1299
HP:0009828	Peromelia	64327	LMBR1	OMIM:200500
HP:0009825	Aplasia involving bones of the extremities	2697	GJA1	OMIM:186100
HP:0009825	Aplasia involving bones of the extremities	526	ATP6V1B2	OMIM:124480
HP:0009825	Aplasia involving bones of the extremities	9742	IFT140	OMIM:266920
HP:0009825	Aplasia involving bones of the extremities	79659	DYNC2H1	OMIM:613091
HP:0009825	Aplasia involving bones of the extremities	538	ATP7A	ORPHA:198
HP:0009825	Aplasia involving bones of the extremities	5307	PITX1	OMIM:119800
HP:0009825	Aplasia involving bones of the extremities	55636	CHD7	OMIM:214800
HP:0009825	Aplasia involving bones of the extremities	2737	GLI3	ORPHA:93322
HP:0009825	Aplasia involving bones of the extremities	50814	NSDHL	OMIM:308050
HP:0009825	Aplasia involving bones of the extremities	2263	FGFR2	OMIM:149730
HP:0009825	Aplasia involving bones of the extremities	64327	LMBR1	OMIM:200500
HP:0009825	Aplasia involving bones of the extremities	7516	XRCC2	OMIM:617247
HP:0009825	Aplasia involving bones of the extremities	2177	FANCD2	OMIM:227646
HP:0009825	Aplasia involving bones of the extremities	6469	SHH	ORPHA:93321
HP:0009825	Aplasia involving bones of the extremities	7204	TRIO	ORPHA:476126
HP:0009825	Aplasia involving bones of the extremities	9896	FIG4	ORPHA:3472
HP:0009825	Aplasia involving bones of the extremities	55697	VAC14	ORPHA:3472
HP:0009825	Aplasia involving bones of the extremities	1954	MEGF8	OMIM:614976
HP:0009825	Aplasia involving bones of the extremities	285203	EOGT	OMIM:615297
HP:0009825	Aplasia involving bones of the extremities	4000	LMNA	ORPHA:2229
HP:0009825	Aplasia involving bones of the extremities	3782	KCNN3	OMIM:618658
HP:0009825	Aplasia involving bones of the extremities	8200	GDF5	ORPHA:2098
HP:0009825	Aplasia involving bones of the extremities	658	BMPR1B	ORPHA:2098
HP:0009831	Mononeuropathy	79628	SH3TC2	OMIM:613353
HP:0009831	Mononeuropathy	4771	NF2	ORPHA:637
HP:0009832	Abnormal distal phalanx morphology of finger	3549	IHH	OMIM:112500
HP:0009832	Abnormal distal phalanx morphology of finger	3549	IHH	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	8200	GDF5	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	658	BMPR1B	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	10236	HNRNPR	OMIM:620073
HP:0009832	Abnormal distal phalanx morphology of finger	57492	ARID1B	OMIM:135900
HP:0009832	Abnormal distal phalanx morphology of finger	3481	IGF2	OMIM:180860
HP:0009832	Abnormal distal phalanx morphology of finger	6598	SMARCB1	OMIM:614608
HP:0009832	Abnormal distal phalanx morphology of finger	9241	NOG	OMIM:186500
HP:0009832	Abnormal distal phalanx morphology of finger	3930	LBR	OMIM:215140
HP:0009832	Abnormal distal phalanx morphology of finger	29957	SLC25A24	OMIM:612289
HP:0009832	Abnormal distal phalanx morphology of finger	7048	TGFBR2	OMIM:610168
HP:0009832	Abnormal distal phalanx morphology of finger	1147	CHUK	OMIM:619339
HP:0009832	Abnormal distal phalanx morphology of finger	3782	KCNN3	OMIM:618658
HP:0009832	Abnormal distal phalanx morphology of finger	57572	DOCK6	OMIM:614219
HP:0009832	Abnormal distal phalanx morphology of finger	84295	PHF6	OMIM:301900
HP:0009832	Abnormal distal phalanx morphology of finger	84992	PIGY	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	84992	PIGY	OMIM:616809
HP:0009832	Abnormal distal phalanx morphology of finger	84720	PIGO	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	84720	PIGO	OMIM:614749
HP:0009832	Abnormal distal phalanx morphology of finger	93210	PGAP3	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	93210	PGAP3	OMIM:615716
HP:0009832	Abnormal distal phalanx morphology of finger	284098	PIGW	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	27315	PGAP2	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	27315	PGAP2	OMIM:614207
HP:0009832	Abnormal distal phalanx morphology of finger	55650	PIGV	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	9487	PIGL	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	57020	VPS35L	OMIM:619135
HP:0009832	Abnormal distal phalanx morphology of finger	4256	MGP	OMIM:245150
HP:0009832	Abnormal distal phalanx morphology of finger	2972	BRF1	OMIM:616202
HP:0009832	Abnormal distal phalanx morphology of finger	29929	ALG6	ORPHA:79320
HP:0009832	Abnormal distal phalanx morphology of finger	5447	POR	ORPHA:95699
HP:0009832	Abnormal distal phalanx morphology of finger	3376	IARS1	ORPHA:541423
HP:0009832	Abnormal distal phalanx morphology of finger	79068	FTO	OMIM:612938
HP:0009832	Abnormal distal phalanx morphology of finger	1075	CTSC	OMIM:245010
HP:0009832	Abnormal distal phalanx morphology of finger	7021	TFAP2B	OMIM:169100
HP:0009832	Abnormal distal phalanx morphology of finger	1280	COL2A1	OMIM:271700
HP:0009832	Abnormal distal phalanx morphology of finger	9896	FIG4	OMIM:216340
HP:0009832	Abnormal distal phalanx morphology of finger	50814	NSDHL	OMIM:308050
HP:0009832	Abnormal distal phalanx morphology of finger	64327	LMBR1	OMIM:174500
HP:0009832	Abnormal distal phalanx morphology of finger	55012	PPP2R3C	OMIM:618419
HP:0009832	Abnormal distal phalanx morphology of finger	374654	KIF7	OMIM:200990
HP:0009832	Abnormal distal phalanx morphology of finger	5053	PAH	ORPHA:2209
HP:0009832	Abnormal distal phalanx morphology of finger	124583	CANT1	OMIM:251450
HP:0009832	Abnormal distal phalanx morphology of finger	57167	SALL4	ORPHA:959
HP:0009832	Abnormal distal phalanx morphology of finger	6885	MAP3K7	ORPHA:1826
HP:0009832	Abnormal distal phalanx morphology of finger	5293	PIK3CD	ORPHA:221139
HP:0009832	Abnormal distal phalanx morphology of finger	90417	KNSTRN	ORPHA:221139
HP:0009832	Abnormal distal phalanx morphology of finger	2778	GNAS	ORPHA:79445
HP:0009832	Abnormal distal phalanx morphology of finger	5727	PTCH1	OMIM:109400
HP:0009832	Abnormal distal phalanx morphology of finger	100151683	RNU4ATAC	ORPHA:2636
HP:0009832	Abnormal distal phalanx morphology of finger	126792	B3GALT6	ORPHA:2725
HP:0009832	Abnormal distal phalanx morphology of finger	22930	RAB3GAP1	ORPHA:1387
HP:0009832	Abnormal distal phalanx morphology of finger	25782	RAB3GAP2	ORPHA:1387
HP:0009832	Abnormal distal phalanx morphology of finger	9555	MACROH2A1	ORPHA:1275
HP:0009832	Abnormal distal phalanx morphology of finger	5307	PITX1	ORPHA:1275
HP:0009832	Abnormal distal phalanx morphology of finger	6023	RMRP	ORPHA:175
HP:0009832	Abnormal distal phalanx morphology of finger	388015	RTL1	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	8788	DLK1	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	55384	MEG3	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	4920	ROR2	OMIM:113000
HP:0009832	Abnormal distal phalanx morphology of finger	9949	AMMECR1	OMIM:300990
HP:0009832	Abnormal distal phalanx morphology of finger	9653	HS2ST1	OMIM:619194
HP:0009832	Abnormal distal phalanx morphology of finger	2239	GPC4	OMIM:301026
HP:0009832	Abnormal distal phalanx morphology of finger	2239	GPC4	ORPHA:2662
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	OMIM:180849
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	ORPHA:353277
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	ORPHA:353281
HP:0009832	Abnormal distal phalanx morphology of finger	2033	EP300	OMIM:180849
HP:0009832	Abnormal distal phalanx morphology of finger	2033	EP300	ORPHA:353284
HP:0009832	Abnormal distal phalanx morphology of finger	2317	FLNB	ORPHA:503
HP:0009832	Abnormal distal phalanx morphology of finger	55209	SETD5	ORPHA:404440
HP:0009832	Abnormal distal phalanx morphology of finger	55209	SETD5	OMIM:615761
HP:0009832	Abnormal distal phalanx morphology of finger	57459	GATAD2B	ORPHA:363686
HP:0009832	Abnormal distal phalanx morphology of finger	6595	SMARCA2	OMIM:601358
HP:0009832	Abnormal distal phalanx morphology of finger	6595	SMARCA2	ORPHA:3051
HP:0009832	Abnormal distal phalanx morphology of finger	633	BGN	OMIM:300989
HP:0009832	Abnormal distal phalanx morphology of finger	23404	EXOSC2	OMIM:617763
HP:0009832	Abnormal distal phalanx morphology of finger	57728	WDR19	OMIM:614378
HP:0009832	Abnormal distal phalanx morphology of finger	2316	FLNA	OMIM:311300
HP:0009832	Abnormal distal phalanx morphology of finger	79971	WLS	OMIM:619648
HP:0009832	Abnormal distal phalanx morphology of finger	4038	LRP4	ORPHA:3152
HP:0009832	Abnormal distal phalanx morphology of finger	50964	SOST	ORPHA:3152
HP:0009832	Abnormal distal phalanx morphology of finger	1513	CTSK	ORPHA:763
HP:0009832	Abnormal distal phalanx morphology of finger	1513	CTSK	OMIM:265800
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	ORPHA:740
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	OMIM:248370
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	ORPHA:90153
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	ORPHA:740
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	OMIM:608612
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	OMIM:275210
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	ORPHA:90154
HP:0009832	Abnormal distal phalanx morphology of finger	8815	BANF1	OMIM:614008
HP:0009832	Abnormal distal phalanx morphology of finger	10651	MTX2	ORPHA:90153
HP:0009832	Abnormal distal phalanx morphology of finger	5159	PDGFRB	OMIM:601812
HP:0009832	Abnormal distal phalanx morphology of finger	4921	DDR2	OMIM:271665
HP:0009832	Abnormal distal phalanx morphology of finger	9469	CHST3	OMIM:245600
HP:0009832	Abnormal distal phalanx morphology of finger	26229	B3GAT3	OMIM:245600
HP:0009832	Abnormal distal phalanx morphology of finger	55764	IFT122	OMIM:218330
HP:0009832	Abnormal distal phalanx morphology of finger	55697	VAC14	ORPHA:3472
HP:0009832	Abnormal distal phalanx morphology of finger	9488	PIGB	OMIM:618580
HP:0009832	Abnormal distal phalanx morphology of finger	10617	STAMBP	OMIM:614261
HP:0009832	Abnormal distal phalanx morphology of finger	2335	FN1	ORPHA:93315
HP:0009832	Abnormal distal phalanx morphology of finger	23556	PIGN	ORPHA:2059
HP:0009832	Abnormal distal phalanx morphology of finger	23556	PIGN	OMIM:614080
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	ORPHA:93314
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	OMIM:606835
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	ORPHA:85169
HP:0009832	Abnormal distal phalanx morphology of finger	51412	ACTL6B	OMIM:618470
HP:0009832	Abnormal distal phalanx morphology of finger	57465	TBC1D24	OMIM:220500
HP:0009832	Abnormal distal phalanx morphology of finger	57465	TBC1D24	ORPHA:79500
HP:0009832	Abnormal distal phalanx morphology of finger	613	BCR	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	1399	CRKL	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	5594	MAPK1	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	55784	MCTP2	ORPHA:1596
HP:0009832	Abnormal distal phalanx morphology of finger	5744	PTHLH	ORPHA:93387
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	ORPHA:93387
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	ORPHA:93406
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	OMIM:186300
HP:0009832	Abnormal distal phalanx morphology of finger	3764	KCNJ8	ORPHA:1517
HP:0009832	Abnormal distal phalanx morphology of finger	10060	ABCC9	ORPHA:1517
HP:0009832	Abnormal distal phalanx morphology of finger	57539	WDR35	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	57539	WDR35	OMIM:614091
HP:0009832	Abnormal distal phalanx morphology of finger	112752	IFT43	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	51098	IFT52	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	51098	IFT52	OMIM:617102
HP:0009832	Abnormal distal phalanx morphology of finger	6926	TBX3	ORPHA:3138
HP:0009832	Abnormal distal phalanx morphology of finger	4784	NFIX	OMIM:602535
HP:0009832	Abnormal distal phalanx morphology of finger	24140	FTSJ1	OMIM:309549
HP:0009832	Abnormal distal phalanx morphology of finger	54496	PRMT7	OMIM:617157
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	OMIM:135500
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	ORPHA:420561
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	OMIM:611816
HP:0009832	Abnormal distal phalanx morphology of finger	64359	NXN	ORPHA:1507
HP:0009832	Abnormal distal phalanx morphology of finger	8289	ARID1A	OMIM:614607
HP:0009832	Abnormal distal phalanx morphology of finger	3209	HOXA13	ORPHA:2438
HP:0009832	Abnormal distal phalanx morphology of finger	5566	PRKACA	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	5567	PRKACB	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2735	GLI1	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2121	EVC	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	51626	DYNC2LI1	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	132884	EVC2	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2475	MTOR	OMIM:616638
HP:0009832	Abnormal distal phalanx morphology of finger	5116	PCNT	OMIM:210720
HP:0009832	Abnormal distal phalanx morphology of finger	9419	CRIPT	OMIM:615789
HP:0009832	Abnormal distal phalanx morphology of finger	4853	NOTCH2	ORPHA:955
HP:0009832	Abnormal distal phalanx morphology of finger	26040	SETBP1	OMIM:269150
HP:0009832	Abnormal distal phalanx morphology of finger	26040	SETBP1	ORPHA:798
HP:0009832	Abnormal distal phalanx morphology of finger	54	ACP5	ORPHA:1855
HP:0009832	Abnormal distal phalanx morphology of finger	6197	RPS6KA3	ORPHA:192
HP:0009832	Abnormal distal phalanx morphology of finger	1300	COL10A1	OMIM:156500
HP:0009832	Abnormal distal phalanx morphology of finger	5281	PIGF	OMIM:619356
HP:0009832	Abnormal distal phalanx morphology of finger	94005	PIGS	OMIM:618143
HP:0009832	Abnormal distal phalanx morphology of finger	2677	GGCX	OMIM:277450
HP:0009832	Abnormal distal phalanx morphology of finger	10283	CWC27	OMIM:250410
HP:0009832	Abnormal distal phalanx morphology of finger	526	ATP6V1B2	ORPHA:79500
HP:0009832	Abnormal distal phalanx morphology of finger	1311	COMP	OMIM:177170
HP:0009832	Abnormal distal phalanx morphology of finger	25839	COG4	OMIM:618150
HP:0009832	Abnormal distal phalanx morphology of finger	26137	ZBTB20	OMIM:259050
HP:0009832	Abnormal distal phalanx morphology of finger	60401	EDA2R	ORPHA:181
HP:0009832	Abnormal distal phalanx morphology of finger	1896	EDA	ORPHA:181
HP:0009832	Abnormal distal phalanx morphology of finger	28952	CCDC22	OMIM:300963
HP:0009832	Abnormal distal phalanx morphology of finger	182	JAG1	OMIM:118450
HP:0009832	Abnormal distal phalanx morphology of finger	6605	SMARCE1	OMIM:616938
HP:0009832	Abnormal distal phalanx morphology of finger	3516	RBPJ	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	3516	RBPJ	OMIM:614814
HP:0009832	Abnormal distal phalanx morphology of finger	4851	NOTCH1	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	57514	ARHGAP31	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	285203	EOGT	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	54567	DLL4	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	50515	CHST11	OMIM:618167
HP:0009832	Abnormal distal phalanx morphology of finger	8242	KDM5C	OMIM:300534
HP:0009832	Abnormal distal phalanx morphology of finger	1186	CLCN7	ORPHA:53
HP:0009832	Abnormal distal phalanx morphology of finger	2702	GJA5	OMIM:612474
HP:0009832	Abnormal distal phalanx morphology of finger	2703	GJA8	OMIM:612474
HP:0009832	Abnormal distal phalanx morphology of finger	2719	GPC3	OMIM:312870
HP:0009832	Abnormal distal phalanx morphology of finger	6664	SOX11	OMIM:615866
HP:0009832	Abnormal distal phalanx morphology of finger	55081	IFT57	OMIM:617927
HP:0009832	Abnormal distal phalanx morphology of finger	25886	POC1A	OMIM:614813
HP:0009832	Abnormal distal phalanx morphology of finger	865	CBFB	OMIM:620099
HP:0009832	Abnormal distal phalanx morphology of finger	7474	WNT5A	OMIM:180700
HP:0009832	Abnormal distal phalanx morphology of finger	1855	DVL1	OMIM:180700
HP:0009832	Abnormal distal phalanx morphology of finger	1832	DSP	OMIM:609638
HP:0009832	Abnormal distal phalanx morphology of finger	259232	NALCN	ORPHA:371364
HP:0009832	Abnormal distal phalanx morphology of finger	285175	UNC80	ORPHA:371364
HP:0009832	Abnormal distal phalanx morphology of finger	6711	SPTBN1	OMIM:619475
HP:0009832	Abnormal distal phalanx morphology of finger	7291	TWIST1	OMIM:101400
HP:0009832	Abnormal distal phalanx morphology of finger	2263	FGFR2	OMIM:101400
HP:0009832	Abnormal distal phalanx morphology of finger	23592	LEMD3	ORPHA:1879
HP:0009832	Abnormal distal phalanx morphology of finger	28957	MRPS28	OMIM:618958
HP:0009832	Abnormal distal phalanx morphology of finger	7227	TRPS1	OMIM:190350
HP:0009832	Abnormal distal phalanx morphology of finger	10847	SRCAP	OMIM:136140
HP:0009832	Abnormal distal phalanx morphology of finger	415	ARSL	ORPHA:79345
HP:0009832	Abnormal distal phalanx morphology of finger	3835	KIF22	OMIM:603546
HP:0009833	Abnormal middle phalanx morphology of the hand	7021	TFAP2B	ORPHA:46627
HP:0009833	Abnormal middle phalanx morphology of the hand	3481	IGF2	OMIM:180860
HP:0009833	Abnormal middle phalanx morphology of the hand	51199	NIN	ORPHA:319675
HP:0009833	Abnormal middle phalanx morphology of the hand	51199	NIN	OMIM:614851
HP:0009833	Abnormal middle phalanx morphology of the hand	7474	WNT5A	OMIM:180700
HP:0009833	Abnormal middle phalanx morphology of the hand	1855	DVL1	OMIM:180700
HP:0009833	Abnormal middle phalanx morphology of the hand	22827	PUF60	ORPHA:508488
HP:0009833	Abnormal middle phalanx morphology of the hand	2623	GATA1	OMIM:190685
HP:0009833	Abnormal middle phalanx morphology of the hand	2783	GNB2	OMIM:619503
HP:0009833	Abnormal middle phalanx morphology of the hand	5932	RBBP8	OMIM:251255
HP:0009833	Abnormal middle phalanx morphology of the hand	59341	TRPV4	OMIM:606835
HP:0009833	Abnormal middle phalanx morphology of the hand	59341	TRPV4	ORPHA:93314
HP:0009833	Abnormal middle phalanx morphology of the hand	59341	TRPV4	ORPHA:85169
HP:0009833	Abnormal middle phalanx morphology of the hand	55777	MBD5	OMIM:156200
HP:0009833	Abnormal middle phalanx morphology of the hand	4613	MYCN	ORPHA:391641
HP:0009833	Abnormal middle phalanx morphology of the hand	4613	MYCN	OMIM:164280
HP:0009833	Abnormal middle phalanx morphology of the hand	1836	SLC26A2	OMIM:256050
HP:0009833	Abnormal middle phalanx morphology of the hand	1300	COL10A1	OMIM:156500
HP:0009833	Abnormal middle phalanx morphology of the hand	5745	PTH1R	OMIM:600002
HP:0009833	Abnormal middle phalanx morphology of the hand	5422	POLA1	OMIM:301030
HP:0009833	Abnormal middle phalanx morphology of the hand	9896	FIG4	ORPHA:3472
HP:0009833	Abnormal middle phalanx morphology of the hand	55697	VAC14	ORPHA:3472
HP:0009833	Abnormal middle phalanx morphology of the hand	652	BMP4	OMIM:607932
HP:0009833	Abnormal middle phalanx morphology of the hand	3549	IHH	OMIM:607778
HP:0009833	Abnormal middle phalanx morphology of the hand	3549	IHH	ORPHA:93388
HP:0009833	Abnormal middle phalanx morphology of the hand	9742	IFT140	OMIM:266920
HP:0009833	Abnormal middle phalanx morphology of the hand	5144	PDE4D	ORPHA:439822
HP:0009833	Abnormal middle phalanx morphology of the hand	8085	KMT2D	ORPHA:2322
HP:0009833	Abnormal middle phalanx morphology of the hand	7403	KDM6A	ORPHA:2322
HP:0009833	Abnormal middle phalanx morphology of the hand	25871	NEPRO	OMIM:618853
HP:0009833	Abnormal middle phalanx morphology of the hand	51053	GMNN	OMIM:616835
HP:0009833	Abnormal middle phalanx morphology of the hand	5116	PCNT	OMIM:210720
HP:0009833	Abnormal middle phalanx morphology of the hand	22995	CEP152	OMIM:613823
HP:0009833	Abnormal middle phalanx morphology of the hand	57572	DOCK6	OMIM:614219
HP:0009833	Abnormal middle phalanx morphology of the hand	55081	IFT57	OMIM:617927
HP:0009833	Abnormal middle phalanx morphology of the hand	407975	MIR17HG	ORPHA:391646
HP:0009833	Abnormal middle phalanx morphology of the hand	4297	KMT2A	OMIM:605130
HP:0009833	Abnormal middle phalanx morphology of the hand	1280	COL2A1	OMIM:271700
HP:0009833	Abnormal middle phalanx morphology of the hand	2260	FGFR1	OMIM:101600
HP:0009833	Abnormal middle phalanx morphology of the hand	2263	FGFR2	OMIM:101600
HP:0009833	Abnormal middle phalanx morphology of the hand	84295	PHF6	OMIM:301900
HP:0009833	Abnormal middle phalanx morphology of the hand	3209	HOXA13	OMIM:140000
HP:0009833	Abnormal middle phalanx morphology of the hand	3209	HOXA13	ORPHA:2438
HP:0009833	Abnormal middle phalanx morphology of the hand	9451	EIF2AK3	OMIM:226980
HP:0009833	Abnormal middle phalanx morphology of the hand	2261	FGFR3	OMIM:602849
HP:0009833	Abnormal middle phalanx morphology of the hand	2697	GJA1	OMIM:186100
HP:0009833	Abnormal middle phalanx morphology of the hand	526	ATP6V1B2	OMIM:124480
HP:0009833	Abnormal middle phalanx morphology of the hand	4920	ROR2	OMIM:268310
HP:0009833	Abnormal middle phalanx morphology of the hand	727857	BHLHA9	OMIM:609432
HP:0009833	Abnormal middle phalanx morphology of the hand	658	BMPR1B	OMIM:112600
HP:0009833	Abnormal middle phalanx morphology of the hand	8200	GDF5	OMIM:112600
HP:0009833	Abnormal middle phalanx morphology of the hand	650	BMP2	OMIM:112600
HP:0009833	Abnormal middle phalanx morphology of the hand	9241	NOG	OMIM:186500
HP:0009833	Abnormal middle phalanx morphology of the hand	2122	MECOM	OMIM:616738
HP:0009833	Abnormal middle phalanx morphology of the hand	50814	NSDHL	OMIM:308050
HP:0009833	Abnormal middle phalanx morphology of the hand	3239	HOXD13	ORPHA:93409
HP:0009833	Abnormal middle phalanx morphology of the hand	10847	SRCAP	OMIM:136140
HP:0009833	Abnormal middle phalanx morphology of the hand	860	RUNX2	OMIM:119600
HP:0009833	Abnormal middle phalanx morphology of the hand	860	RUNX2	OMIM:156510
HP:0009833	Abnormal middle phalanx morphology of the hand	27152	INTU	OMIM:617926
HP:0009833	Abnormal middle phalanx morphology of the hand	51715	RAB23	OMIM:201000
HP:0009833	Abnormal middle phalanx morphology of the hand	22856	CHSY1	ORPHA:363417
HP:0009833	Abnormal middle phalanx morphology of the hand	10084	PQBP1	OMIM:309500
HP:0009833	Abnormal middle phalanx morphology of the hand	4841	NONO	OMIM:300967
HP:0009833	Abnormal middle phalanx morphology of the hand	9791	PTDSS1	OMIM:151050
HP:0009833	Abnormal middle phalanx morphology of the hand	5293	PIK3CD	ORPHA:221139
HP:0009833	Abnormal middle phalanx morphology of the hand	90417	KNSTRN	ORPHA:221139
HP:0009833	Abnormal middle phalanx morphology of the hand	4784	NFIX	OMIM:602535
HP:0009833	Abnormal middle phalanx morphology of the hand	1954	MEGF8	OMIM:614976
HP:0009833	Abnormal middle phalanx morphology of the hand	4000	LMNA	OMIM:610140
HP:0009833	Abnormal middle phalanx morphology of the hand	7227	TRPS1	OMIM:190350
HP:0009833	Abnormal middle phalanx morphology of the hand	7227	TRPS1	OMIM:190351
HP:0009833	Abnormal middle phalanx morphology of the hand	4883	NPR3	OMIM:619543
HP:0009834	Abnormal proximal phalanx morphology of the hand	2317	FLNB	OMIM:108721
HP:0009834	Abnormal proximal phalanx morphology of the hand	1280	COL2A1	OMIM:271700
HP:0009834	Abnormal proximal phalanx morphology of the hand	3549	IHH	OMIM:112500
HP:0009834	Abnormal proximal phalanx morphology of the hand	9241	NOG	OMIM:186500
HP:0009834	Abnormal proximal phalanx morphology of the hand	9241	NOG	OMIM:184460
HP:0009834	Abnormal proximal phalanx morphology of the hand	4920	ROR2	OMIM:268310
HP:0009834	Abnormal proximal phalanx morphology of the hand	727857	BHLHA9	OMIM:609432
HP:0009834	Abnormal proximal phalanx morphology of the hand	56992	KIF15	ORPHA:261323
HP:0009834	Abnormal proximal phalanx morphology of the hand	8200	GDF5	OMIM:113100
HP:0009834	Abnormal proximal phalanx morphology of the hand	51715	RAB23	OMIM:201000
HP:0009834	Abnormal proximal phalanx morphology of the hand	22856	CHSY1	ORPHA:363417
HP:0009834	Abnormal proximal phalanx morphology of the hand	1387	CREBBP	ORPHA:353277
HP:0009834	Abnormal proximal phalanx morphology of the hand	1387	CREBBP	ORPHA:353281
HP:0009834	Abnormal proximal phalanx morphology of the hand	2033	EP300	ORPHA:353284
HP:0009834	Abnormal proximal phalanx morphology of the hand	1300	COL10A1	ORPHA:174
HP:0009834	Abnormal proximal phalanx morphology of the hand	6792	CDKL5	ORPHA:505652
HP:0009834	Abnormal proximal phalanx morphology of the hand	2778	GNAS	ORPHA:79443
HP:0009834	Abnormal proximal phalanx morphology of the hand	7516	XRCC2	OMIM:617247
HP:0009834	Abnormal proximal phalanx morphology of the hand	2177	FANCD2	OMIM:227646
HP:0009834	Abnormal proximal phalanx morphology of the hand	9896	FIG4	ORPHA:3472
HP:0009834	Abnormal proximal phalanx morphology of the hand	55697	VAC14	ORPHA:3472
HP:0009834	Abnormal proximal phalanx morphology of the hand	64327	LMBR1	ORPHA:93321
HP:0009834	Abnormal proximal phalanx morphology of the hand	6469	SHH	ORPHA:93321
HP:0009834	Abnormal proximal phalanx morphology of the hand	7204	TRIO	ORPHA:476126
HP:0009834	Abnormal proximal phalanx morphology of the hand	2261	FGFR3	ORPHA:15
HP:0009834	Abnormal proximal phalanx morphology of the hand	2475	MTOR	OMIM:616638
HP:0009834	Abnormal proximal phalanx morphology of the hand	658	BMPR1B	OMIM:616849
HP:0009834	Abnormal proximal phalanx morphology of the hand	7227	TRPS1	OMIM:190350
HP:0009834	Abnormal proximal phalanx morphology of the hand	4883	NPR3	OMIM:619543
HP:0009834	Abnormal proximal phalanx morphology of the hand	3835	KIF22	OMIM:603546
HP:0002671	Basal cell carcinoma	4292	MLH1	OMIM:158320
HP:0002671	Basal cell carcinoma	4292	MLH1	ORPHA:144
HP:0002671	Basal cell carcinoma	4292	MLH1	OMIM:276300
HP:0002671	Basal cell carcinoma	4436	MSH2	OMIM:158320
HP:0002671	Basal cell carcinoma	4436	MSH2	ORPHA:144
HP:0002671	Basal cell carcinoma	355	FAS	ORPHA:3261
HP:0002671	Basal cell carcinoma	356	FASLG	ORPHA:3261
HP:0002671	Basal cell carcinoma	5580	PRKCD	ORPHA:3261
HP:0002671	Basal cell carcinoma	843	CASP10	ORPHA:3261
HP:0002671	Basal cell carcinoma	10125	RASGRP1	ORPHA:3261
HP:0002671	Basal cell carcinoma	80326	WNT10A	OMIM:224750
HP:0002671	Basal cell carcinoma	80326	WNT10A	ORPHA:50944
HP:0002671	Basal cell carcinoma	10519	CIB1	OMIM:618267
HP:0002671	Basal cell carcinoma	1643	DDB2	OMIM:278740
HP:0002671	Basal cell carcinoma	6023	RMRP	OMIM:250250
HP:0002671	Basal cell carcinoma	9401	RECQL4	ORPHA:221016
HP:0002671	Basal cell carcinoma	9401	RECQL4	OMIM:268400
HP:0002671	Basal cell carcinoma	324	APC	ORPHA:99818
HP:0002671	Basal cell carcinoma	8643	PTCH2	OMIM:605462
HP:0002671	Basal cell carcinoma	5727	PTCH1	OMIM:605462
HP:0002671	Basal cell carcinoma	5727	PTCH1	ORPHA:77301
HP:0002671	Basal cell carcinoma	5727	PTCH1	OMIM:109400
HP:0002671	Basal cell carcinoma	5921	RASA1	OMIM:605462
HP:0002671	Basal cell carcinoma	6608	SMO	OMIM:605462
HP:0002671	Basal cell carcinoma	1540	CYLD	ORPHA:867
HP:0002671	Basal cell carcinoma	1540	CYLD	OMIM:601606
HP:0002671	Basal cell carcinoma	3845	KRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3845	KRAS	ORPHA:144
HP:0002671	Basal cell carcinoma	4893	NRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3265	HRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3265	HRAS	ORPHA:2874
HP:0002671	Basal cell carcinoma	7373	COL14A1	ORPHA:79501
HP:0002671	Basal cell carcinoma	79719	AAGAB	ORPHA:79501
HP:0002671	Basal cell carcinoma	4072	EPCAM	ORPHA:144
HP:0002671	Basal cell carcinoma	5395	PMS2	ORPHA:144
HP:0002671	Basal cell carcinoma	27030	MLH3	ORPHA:144
HP:0002671	Basal cell carcinoma	22909	FAN1	ORPHA:144
HP:0002671	Basal cell carcinoma	7048	TGFBR2	ORPHA:144
HP:0002671	Basal cell carcinoma	5290	PIK3CA	ORPHA:144
HP:0002671	Basal cell carcinoma	2956	MSH6	ORPHA:144
HP:0002671	Basal cell carcinoma	5378	PMS1	ORPHA:144
HP:0002671	Basal cell carcinoma	1308	COL17A1	ORPHA:79406
HP:0002671	Basal cell carcinoma	4312	MMP1	ORPHA:79408
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79408
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79409
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79410
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79411
HP:0002671	Basal cell carcinoma	11322	TMC6	OMIM:226400
HP:0002671	Basal cell carcinoma	64218	SEMA4A	ORPHA:440437
HP:0002671	Basal cell carcinoma	657	BMPR1A	ORPHA:440437
HP:0002671	Basal cell carcinoma	6224	RPS20	ORPHA:440437
HP:0002671	Basal cell carcinoma	2304	FOXE1	OMIM:616534
HP:0002671	Basal cell carcinoma	5429	POLH	OMIM:278750
HP:0002671	Basal cell carcinoma	5429	POLH	ORPHA:90342
HP:0002671	Basal cell carcinoma	2068	ERCC2	ORPHA:220295
HP:0002671	Basal cell carcinoma	2068	ERCC2	OMIM:601675
HP:0002671	Basal cell carcinoma	2073	ERCC5	ORPHA:220295
HP:0002671	Basal cell carcinoma	2072	ERCC4	ORPHA:220295
HP:0002671	Basal cell carcinoma	2072	ERCC4	OMIM:278760
HP:0002671	Basal cell carcinoma	2071	ERCC3	ORPHA:220295
HP:0002671	Basal cell carcinoma	2071	ERCC3	OMIM:610651
HP:0002671	Basal cell carcinoma	4913	NTHL1	OMIM:616415
HP:0002671	Basal cell carcinoma	4913	NTHL1	ORPHA:454840
HP:0002671	Basal cell carcinoma	7298	TYMS	OMIM:620040
HP:0002671	Basal cell carcinoma	7508	XPC	OMIM:278720
HP:0002671	Basal cell carcinoma	6223	RPS19	OMIM:105650
HP:0002671	Basal cell carcinoma	4000	LMNA	ORPHA:363618
HP:0002671	Basal cell carcinoma	7299	TYR	ORPHA:79431
HP:0002671	Basal cell carcinoma	7299	TYR	ORPHA:79434
HP:0002671	Basal cell carcinoma	9817	KEAP1	ORPHA:276399
HP:0002671	Basal cell carcinoma	23405	DICER1	ORPHA:276399
HP:0002671	Basal cell carcinoma	4157	MC1R	ORPHA:79432
HP:0002671	Basal cell carcinoma	4948	OCA2	ORPHA:79432
HP:0002671	Basal cell carcinoma	64682	ANAPC1	ORPHA:221008
HP:0002672	Gastrointestinal carcinoma	6794	STK11	ORPHA:2869
HP:0002672	Gastrointestinal carcinoma	6794	STK11	OMIM:175200
HP:0002672	Gastrointestinal carcinoma	324	APC	ORPHA:247806
HP:0002672	Gastrointestinal carcinoma	324	APC	ORPHA:79665
HP:0002672	Gastrointestinal carcinoma	7486	WRN	ORPHA:902
HP:0002672	Gastrointestinal carcinoma	4089	SMAD4	OMIM:175050
HP:0002672	Gastrointestinal carcinoma	4072	EPCAM	OMIM:613244
HP:0002672	Gastrointestinal carcinoma	6714	SRC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	201163	FLCN	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	10395	DLC1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	11200	CHEK2	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	8313	AXIN2	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5290	PIK3CA	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	2033	EP300	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5782	PTPN12	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5320	PLA2G2A	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	6790	AURKA	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	1630	DCC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	27030	MLH3	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	27030	MLH3	OMIM:614385
HP:0002672	Gastrointestinal carcinoma	581	BAX	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	25788	RAD54B	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	595	CCND1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	699	BUB1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	701	BUB1B	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	2261	FGFR3	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	7097	TLR2	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	4893	NRAS	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	1499	CTNNB1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	7157	TP53	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	4163	MCC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	207	AKT1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5157	PDGFRL	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5795	PTPRJ	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	673	BRAF	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5395	PMS2	OMIM:614337
HP:0002672	Gastrointestinal carcinoma	5424	POLD1	OMIM:612591
HP:0002672	Gastrointestinal carcinoma	7048	TGFBR2	OMIM:614331
HP:0002672	Gastrointestinal carcinoma	2956	MSH6	OMIM:614350
HP:0002672	Gastrointestinal carcinoma	4436	MSH2	OMIM:158320
HP:0002672	Gastrointestinal carcinoma	4913	NTHL1	OMIM:616415
HP:0002672	Gastrointestinal carcinoma	4913	NTHL1	ORPHA:454840
HP:0002672	Gastrointestinal carcinoma	4292	MLH1	OMIM:276300
HP:0002672	Gastrointestinal carcinoma	7373	COL14A1	ORPHA:79501
HP:0002672	Gastrointestinal carcinoma	79719	AAGAB	ORPHA:79501
HP:0002672	Gastrointestinal carcinoma	2859	GPR35	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	10507	SEMA4D	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	4485	MST1	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	6925	TCF4	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	4595	MUTYH	ORPHA:247798
HP:0002672	Gastrointestinal carcinoma	6135	RPL11	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6138	RPL15	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6229	RPS24	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6125	RPL5	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6204	RPS10	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6224	RPS20	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6165	RPL35A	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	2623	GATA1	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6223	RPS19	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6232	RPS27	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6231	RPS26	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	11224	RPL35	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6160	RPL31	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6218	RPS17	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6201	RPS7	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6155	RPL27	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6154	RPL26	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6210	RPS15A	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	90121	TSR2	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6141	RPL18	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6235	RPS29	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6234	RPS28	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	51816	ADA2	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	5426	POLE	ORPHA:447877
HP:0002672	Gastrointestinal carcinoma	26585	GREM1	ORPHA:157794
HP:0002672	Gastrointestinal carcinoma	657	BMPR1A	ORPHA:157794
HP:0002673	Coxa valga	64374	SIL1	OMIM:248800
HP:0002673	Coxa valga	64374	SIL1	ORPHA:559
HP:0002673	Coxa valga	1280	COL2A1	OMIM:132450
HP:0002673	Coxa valga	1280	COL2A1	OMIM:616583
HP:0002673	Coxa valga	7355	SLC35A2	ORPHA:356961
HP:0002673	Coxa valga	4897	NRCAM	OMIM:619833
HP:0002673	Coxa valga	347734	SLC35B2	OMIM:620269
HP:0002673	Coxa valga	2720	GLB1	OMIM:230600
HP:0002673	Coxa valga	2720	GLB1	OMIM:253010
HP:0002673	Coxa valga	538	ATP7A	OMIM:304150
HP:0002673	Coxa valga	538	ATP7A	ORPHA:198
HP:0002673	Coxa valga	546	ATRX	OMIM:301040
HP:0002673	Coxa valga	6473	SHOX	OMIM:127300
HP:0002673	Coxa valga	55593	OTUD5	OMIM:301056
HP:0002673	Coxa valga	613	BCR	ORPHA:261330
HP:0002673	Coxa valga	1399	CRKL	ORPHA:261330
HP:0002673	Coxa valga	5594	MAPK1	ORPHA:261330
HP:0002673	Coxa valga	2137	EXTL3	OMIM:617425
HP:0002673	Coxa valga	4000	LMNA	OMIM:248370
HP:0002673	Coxa valga	4000	LMNA	ORPHA:740
HP:0002673	Coxa valga	3764	KCNJ8	ORPHA:1517
HP:0002673	Coxa valga	10060	ABCC9	ORPHA:1517
HP:0002673	Coxa valga	10060	ABCC9	OMIM:239850
HP:0002673	Coxa valga	55768	NGLY1	ORPHA:404454
HP:0002673	Coxa valga	79158	GNPTAB	OMIM:252500
HP:0002673	Coxa valga	9382	COG1	ORPHA:263508
HP:0002673	Coxa valga	6197	RPS6KA3	OMIM:303600
HP:0002673	Coxa valga	64135	IFIH1	OMIM:182250
HP:0002673	Coxa valga	1301	COL11A1	OMIM:154780
HP:0002673	Coxa valga	2316	FLNA	OMIM:305620
HP:0002673	Coxa valga	2316	FLNA	ORPHA:2484
HP:0002673	Coxa valga	2316	FLNA	OMIM:309350
HP:0002673	Coxa valga	2316	FLNA	OMIM:311300
HP:0002673	Coxa valga	10940	POP1	OMIM:617396
HP:0002673	Coxa valga	3190	HNRNPK	OMIM:616580
HP:0002673	Coxa valga	57492	ARID1B	OMIM:135900
HP:0002673	Coxa valga	4998	ORC1	OMIM:224690
HP:0002673	Coxa valga	3899	AFF3	OMIM:619297
HP:0002673	Coxa valga	84068	SLC10A7	OMIM:618363
HP:0002673	Coxa valga	64131	XYLT1	OMIM:615777
HP:0002673	Coxa valga	64131	XYLT1	ORPHA:370930
HP:0002673	Coxa valga	64131	XYLT1	ORPHA:1425
HP:0002673	Coxa valga	9719	ADAMTSL2	ORPHA:1901
HP:0002673	Coxa valga	9719	ADAMTSL2	OMIM:231050
HP:0002673	Coxa valga	9509	ADAMTS2	ORPHA:1901
HP:0002673	Coxa valga	2131	EXT1	ORPHA:321
HP:0002673	Coxa valga	2132	EXT2	ORPHA:321
HP:0002673	Coxa valga	8726	EED	OMIM:617561
HP:0002673	Coxa valga	633	BGN	OMIM:300106
HP:0002673	Coxa valga	372	ARCN1	OMIM:617164
HP:0002673	Coxa valga	9451	EIF2AK3	OMIM:226980
HP:0002673	Coxa valga	3425	IDUA	OMIM:607014
HP:0002673	Coxa valga	51763	INPP5K	ORPHA:559
HP:0002673	Coxa valga	4247	MGAT2	OMIM:212066
HP:0002673	Coxa valga	2074	ERCC6	OMIM:214150
HP:0002673	Coxa valga	10804	GJB6	ORPHA:477
HP:0002673	Coxa valga	2706	GJB2	ORPHA:477
HP:0002673	Coxa valga	9321	TRIP11	ORPHA:166272
HP:0002673	Coxa valga	11285	B4GALT7	OMIM:130070
HP:0002673	Coxa valga	1857	DVL3	ORPHA:3107
HP:0002673	Coxa valga	7474	WNT5A	ORPHA:3107
HP:0002673	Coxa valga	1855	DVL1	ORPHA:3107
HP:0002673	Coxa valga	2535	FZD2	ORPHA:3107
HP:0002673	Coxa valga	2517	FUCA1	OMIM:230000
HP:0002673	Coxa valga	2588	GALNS	OMIM:253000
HP:0002673	Coxa valga	81031	SLC2A10	ORPHA:3342
HP:0002673	Coxa valga	7040	TGFB1	ORPHA:1328
HP:0002673	Coxa valga	10236	HNRNPR	OMIM:620073
HP:0002673	Coxa valga	25839	COG4	OMIM:618150
HP:0002673	Coxa valga	10269	ZMPSTE24	ORPHA:740
HP:0002673	Coxa valga	6558	SLC12A2	OMIM:619080
HP:0002673	Coxa valga	51715	RAB23	OMIM:201000
HP:0002673	Coxa valga	4784	NFIX	OMIM:614753
HP:0002673	Coxa valga	388015	RTL1	ORPHA:96334
HP:0002673	Coxa valga	8788	DLK1	ORPHA:96334
HP:0002673	Coxa valga	55384	MEG3	ORPHA:96334
HP:0002673	Coxa valga	124583	CANT1	OMIM:251450
HP:0002673	Coxa valga	124583	CANT1	ORPHA:1425
HP:0002673	Coxa valga	126792	B3GALT6	OMIM:271640
HP:0002673	Coxa valga	3187	HNRNPH1	OMIM:620083
HP:0002673	Coxa valga	11014	KDELR2	OMIM:619131
HP:0002673	Coxa valga	5167	ENPP1	OMIM:613312
HP:0002673	Coxa valga	2146	EZH2	OMIM:277590
HP:0002673	Coxa valga	2961	GTF2E2	OMIM:616943
HP:0002673	Coxa valga	9939	RBM8A	ORPHA:3320
HP:0002673	Coxa valga	9939	RBM8A	OMIM:274000
HP:0002673	Coxa valga	3339	HSPG2	OMIM:255800
HP:0002673	Coxa valga	3339	HSPG2	ORPHA:800
HP:0002673	Coxa valga	55790	CSGALNACT1	ORPHA:1425
HP:0002673	Coxa valga	1278	COL1A2	ORPHA:1899
HP:0002673	Coxa valga	1277	COL1A1	ORPHA:1899
HP:0002673	Coxa valga	865	CBFB	OMIM:620099
HP:0002673	Coxa valga	2737	GLI3	ORPHA:93322
HP:0002673	Coxa valga	5144	PDE4D	ORPHA:439822
HP:0002673	Coxa valga	4010	LMX1B	ORPHA:495818
HP:0002673	Coxa valga	6812	STXBP1	ORPHA:495818
HP:0002673	Coxa valga	4125	MAN2B1	ORPHA:309282
HP:0002673	Coxa valga	57003	CCDC47	OMIM:618268
HP:0002673	Coxa valga	84342	COG8	OMIM:611182
HP:0002673	Coxa valga	51506	UFC1	OMIM:618076
HP:0002673	Coxa valga	7043	TGFB3	OMIM:615582
HP:0002673	Coxa valga	1297	COL9A1	ORPHA:166002
HP:0002673	Coxa valga	1298	COL9A2	ORPHA:166002
HP:0002673	Coxa valga	1299	COL9A3	ORPHA:166002
HP:0004440	Coronal craniosynostosis	2077	ERF	OMIM:600775
HP:0004440	Coronal craniosynostosis	1947	EFNB1	OMIM:304110
HP:0004440	Coronal craniosynostosis	29957	SLC25A24	ORPHA:2095
HP:0004440	Coronal craniosynostosis	29957	SLC25A24	OMIM:612289
HP:0004440	Coronal craniosynostosis	5034	P4HB	OMIM:112240
HP:0004440	Coronal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004440	Coronal craniosynostosis	5648	MASP1	OMIM:257920
HP:0004440	Coronal craniosynostosis	2961	GTF2E2	OMIM:616943
HP:0004440	Coronal craniosynostosis	2261	FGFR3	ORPHA:53271
HP:0004440	Coronal craniosynostosis	2261	FGFR3	OMIM:602849
HP:0004440	Coronal craniosynostosis	2263	FGFR2	ORPHA:313855
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:614592
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101600
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:207410
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101400
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:123150
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004440	Coronal craniosynostosis	147372	CCBE1	OMIM:235510
HP:0004440	Coronal craniosynostosis	1513	CTSK	ORPHA:763
HP:0004440	Coronal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004440	Coronal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004440	Coronal craniosynostosis	9871	SEC24D	OMIM:616294
HP:0004440	Coronal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004440	Coronal craniosynostosis	60529	ALX4	ORPHA:228390
HP:0004440	Coronal craniosynostosis	54928	BPNT2	OMIM:614078
HP:0004440	Coronal craniosynostosis	2260	FGFR1	OMIM:101600
HP:0004440	Coronal craniosynostosis	2260	FGFR1	OMIM:123150
HP:0004440	Coronal craniosynostosis	5447	POR	OMIM:207410
HP:0004440	Coronal craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0004440	Coronal craniosynostosis	7291	TWIST1	OMIM:101400
HP:0004440	Coronal craniosynostosis	5422	POLA1	ORPHA:163976
HP:0004440	Coronal craniosynostosis	153241	CEP120	OMIM:616300
HP:0004440	Coronal craniosynostosis	84720	PIGO	OMIM:614749
HP:0004440	Coronal craniosynostosis	9839	ZEB2	ORPHA:261537
HP:0004440	Coronal craniosynostosis	9839	ZEB2	ORPHA:261552
HP:0004440	Coronal craniosynostosis	7545	ZIC1	OMIM:618736
HP:0004440	Coronal craniosynostosis	7545	ZIC1	OMIM:616602
HP:0004440	Coronal craniosynostosis	6938	TCF12	OMIM:615314
HP:0004440	Coronal craniosynostosis	6938	TCF12	OMIM:619718
HP:0004440	Coronal craniosynostosis	4488	MSX2	OMIM:604757
HP:0004440	Coronal craniosynostosis	222663	SCUBE3	OMIM:619184
HP:0004440	Coronal craniosynostosis	8294	H4C9	OMIM:619951
HP:0004440	Coronal craniosynostosis	6608	SMO	OMIM:601707
HP:0002676	Cloverleaf skull	2137	EXTL3	ORPHA:508533
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:187601
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:187600
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:602849
HP:0002676	Cloverleaf skull	2261	FGFR3	ORPHA:1860
HP:0002676	Cloverleaf skull	2261	FGFR3	ORPHA:93274
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:87
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:1555
HP:0002676	Cloverleaf skull	2263	FGFR2	OMIM:101600
HP:0002676	Cloverleaf skull	2263	FGFR2	OMIM:123790
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:93259
HP:0002676	Cloverleaf skull	5447	POR	OMIM:201750
HP:0002676	Cloverleaf skull	2260	FGFR1	OMIM:101600
HP:0002676	Cloverleaf skull	2260	FGFR1	OMIM:166250
HP:0002676	Cloverleaf skull	57539	WDR35	OMIM:613610
HP:0002676	Cloverleaf skull	51715	RAB23	ORPHA:65759
HP:0002676	Cloverleaf skull	1954	MEGF8	ORPHA:65759
HP:0002677	Small foramen magnum	3187	HNRNPH1	OMIM:620083
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:187601
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:187600
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:616482
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:100800
HP:0002677	Small foramen magnum	3636	INPPL1	OMIM:258480
HP:0002677	Small foramen magnum	89970	RSPRY1	ORPHA:457395
HP:0002677	Small foramen magnum	55699	IARS2	OMIM:616007
HP:0002677	Small foramen magnum	2006	ELN	ORPHA:90348
HP:0002677	Small foramen magnum	10516	FBLN5	ORPHA:90348
HP:0002677	Small foramen magnum	5832	ALDH18A1	ORPHA:90348
HP:0002677	Small foramen magnum	5832	ALDH18A1	OMIM:616603
HP:0002677	Small foramen magnum	1108	CHD4	OMIM:617159
HP:0002677	Small foramen magnum	3930	LBR	OMIM:618019
HP:0002677	Small foramen magnum	2317	FLNB	OMIM:272460
HP:0002678	Skull asymmetry	5648	MASP1	OMIM:257920
HP:0002678	Skull asymmetry	7291	TWIST1	OMIM:101400
HP:0002678	Skull asymmetry	2263	FGFR2	OMIM:101400
HP:0002678	Skull asymmetry	78989	COLEC11	OMIM:265050
HP:0002678	Skull asymmetry	5885	RAD21	OMIM:614701
HP:0002678	Skull asymmetry	89970	RSPRY1	OMIM:616723
HP:0002678	Skull asymmetry	79068	FTO	OMIM:612938
HP:0002679	Abnormal sella turcica morphology	10273	STUB1	ORPHA:412057
HP:0002679	Abnormal sella turcica morphology	4125	MAN2B1	ORPHA:309282
HP:0002679	Abnormal sella turcica morphology	1009	CDH11	ORPHA:1299
HP:0002679	Abnormal sella turcica morphology	7080	NKX2-1	ORPHA:209905
HP:0002679	Abnormal sella turcica morphology	4094	MAF	ORPHA:1272
HP:0002679	Abnormal sella turcica morphology	10940	POP1	OMIM:617396
HP:0002679	Abnormal sella turcica morphology	10651	MTX2	OMIM:619127
HP:0002679	Abnormal sella turcica morphology	26503	SLC17A5	OMIM:269920
HP:0002679	Abnormal sella turcica morphology	8985	PLOD3	OMIM:612394
HP:0002679	Abnormal sella turcica morphology	2990	GUSB	OMIM:253220
HP:0002679	Abnormal sella turcica morphology	4591	TRIM37	OMIM:253250
HP:0002679	Abnormal sella turcica morphology	4591	TRIM37	ORPHA:2576
HP:0002679	Abnormal sella turcica morphology	65082	VPS33A	OMIM:617303
HP:0002679	Abnormal sella turcica morphology	6023	RMRP	OMIM:607095
HP:0002679	Abnormal sella turcica morphology	3425	IDUA	OMIM:607014
HP:0002679	Abnormal sella turcica morphology	23363	OBSL1	OMIM:612921
HP:0002679	Abnormal sella turcica morphology	9719	ADAMTSL2	OMIM:231050
HP:0002679	Abnormal sella turcica morphology	54808	DYM	OMIM:223800
HP:0002679	Abnormal sella turcica morphology	54808	DYM	OMIM:607326
HP:0002679	Abnormal sella turcica morphology	50964	SOST	OMIM:269500
HP:0002679	Abnormal sella turcica morphology	84196	USP48	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	7157	TP53	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	9101	USP8	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	64072	CDH23	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	2908	NR3C1	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	673	BRAF	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	546	ATRX	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	23102	TBC1D2B	ORPHA:397973
HP:0002679	Abnormal sella turcica morphology	5116	PCNT	OMIM:210720
HP:0002679	Abnormal sella turcica morphology	57688	ZSWIM6	ORPHA:1827
HP:0002679	Abnormal sella turcica morphology	57688	ZSWIM6	OMIM:603671
HP:0002679	Abnormal sella turcica morphology	2720	GLB1	ORPHA:79255
HP:0002679	Abnormal sella turcica morphology	79158	GNPTAB	OMIM:252500
HP:0002679	Abnormal sella turcica morphology	7252	TSHB	ORPHA:90674
HP:0002679	Abnormal sella turcica morphology	10060	ABCC9	OMIM:239850
HP:0002679	Abnormal sella turcica morphology	5727	PTCH1	OMIM:109400
HP:0002679	Abnormal sella turcica morphology	4853	NOTCH2	OMIM:102500
HP:0002679	Abnormal sella turcica morphology	89884	LHX4	OMIM:262700
HP:0002679	Abnormal sella turcica morphology	652	BMP4	OMIM:607932
HP:0002679	Abnormal sella turcica morphology	8260	NAA10	OMIM:300855
HP:0002679	Abnormal sella turcica morphology	5832	ALDH18A1	OMIM:616603
HP:0002679	Abnormal sella turcica morphology	2316	FLNA	OMIM:304120
HP:0012892	Facial muscle hypertrophy	6329	SCN4A	ORPHA:684
HP:0012893	Neck muscle hypertrophy	25792	CIZ1	ORPHA:420492
HP:0012896	Abnormal motor evoked potentials	1593	CYP27A1	ORPHA:909
HP:0012896	Abnormal motor evoked potentials	10273	STUB1	ORPHA:412057
HP:0012896	Abnormal motor evoked potentials	26278	SACS	ORPHA:98
HP:0012896	Abnormal motor evoked potentials	4747	NEFL	ORPHA:99939
HP:0012896	Abnormal motor evoked potentials	57165	GJC2	ORPHA:320401
HP:0012896	Abnormal motor evoked potentials	6253	RTN2	ORPHA:100993
HP:0012896	Abnormal motor evoked potentials	51271	UBAP1	ORPHA:100993
HP:0012896	Abnormal motor evoked potentials	126129	CPT1C	ORPHA:444099
HP:0012896	Abnormal motor evoked potentials	3839	KPNA3	ORPHA:171612
HP:0012896	Abnormal motor evoked potentials	9897	WASHC5	ORPHA:100989
HP:0012896	Abnormal motor evoked potentials	9197	SLC33A1	ORPHA:171863
HP:0012898	Abnormal lower-limb motor evoked potentials	6253	RTN2	ORPHA:100993
HP:0012898	Abnormal lower-limb motor evoked potentials	51271	UBAP1	ORPHA:100993
HP:0012898	Abnormal lower-limb motor evoked potentials	126129	CPT1C	ORPHA:444099
HP:0012898	Abnormal lower-limb motor evoked potentials	3839	KPNA3	ORPHA:171612
HP:0012898	Abnormal lower-limb motor evoked potentials	9897	WASHC5	ORPHA:100989
HP:0012898	Abnormal lower-limb motor evoked potentials	9197	SLC33A1	ORPHA:171863
HP:0012899	Handgrip myotonia	6329	SCN4A	ORPHA:684
HP:0012899	Handgrip myotonia	6329	SCN4A	OMIM:168300
HP:0012899	Handgrip myotonia	6329	SCN4A	OMIM:608390
HP:0012899	Handgrip myotonia	6329	SCN4A	ORPHA:99734
HP:0012899	Handgrip myotonia	58	ACTA1	ORPHA:97240
HP:0012899	Handgrip myotonia	5813	PURA	ORPHA:438216
HP:0012899	Handgrip myotonia	7555	CNBP	OMIM:602668
HP:0012899	Handgrip myotonia	1180	CLCN1	OMIM:160800
HP:0012899	Handgrip myotonia	3094	HINT1	ORPHA:324442
HP:0012890	Posteriorly placed anus	7547	ZIC3	OMIM:306955
HP:0009838	Curved distal phalanges of the hand	4038	LRP4	ORPHA:3152
HP:0009838	Curved distal phalanges of the hand	50964	SOST	ORPHA:3152
HP:0009839	Osteolytic defects of the distal phalanges of the hand	1513	CTSK	ORPHA:763
HP:0009839	Osteolytic defects of the distal phalanges of the hand	1513	CTSK	OMIM:265800
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	ORPHA:740
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	OMIM:248370
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	ORPHA:90153
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:740
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	OMIM:608612
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	OMIM:275210
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009839	Osteolytic defects of the distal phalanges of the hand	8815	BANF1	OMIM:614008
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10651	MTX2	ORPHA:90153
HP:0009839	Osteolytic defects of the distal phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0009844	Broad middle phalanx of finger	25871	NEPRO	OMIM:618853
HP:0009844	Broad middle phalanx of finger	1300	COL10A1	OMIM:156500
HP:0009844	Broad middle phalanx of finger	5293	PIK3CD	ORPHA:221139
HP:0009844	Broad middle phalanx of finger	90417	KNSTRN	ORPHA:221139
HP:0002680	J-shaped sella turcica	4094	MAF	ORPHA:1272
HP:0002680	J-shaped sella turcica	10940	POP1	OMIM:617396
HP:0002680	J-shaped sella turcica	10651	MTX2	OMIM:619127
HP:0002680	J-shaped sella turcica	26503	SLC17A5	OMIM:269920
HP:0002680	J-shaped sella turcica	8985	PLOD3	OMIM:612394
HP:0002680	J-shaped sella turcica	2990	GUSB	OMIM:253220
HP:0002680	J-shaped sella turcica	4591	TRIM37	OMIM:253250
HP:0002680	J-shaped sella turcica	4591	TRIM37	ORPHA:2576
HP:0002680	J-shaped sella turcica	65082	VPS33A	OMIM:617303
HP:0002680	J-shaped sella turcica	6023	RMRP	OMIM:607095
HP:0002680	J-shaped sella turcica	79158	GNPTAB	OMIM:252600
HP:0002680	J-shaped sella turcica	3425	IDUA	OMIM:607014
HP:0002680	J-shaped sella turcica	23363	OBSL1	OMIM:612921
HP:0002680	J-shaped sella turcica	9719	ADAMTSL2	OMIM:231050
HP:0002681	Deformed sella turcica	4094	MAF	ORPHA:1272
HP:0002681	Deformed sella turcica	10940	POP1	OMIM:617396
HP:0002681	Deformed sella turcica	10651	MTX2	OMIM:619127
HP:0002681	Deformed sella turcica	26503	SLC17A5	OMIM:269920
HP:0002681	Deformed sella turcica	8985	PLOD3	OMIM:612394
HP:0002681	Deformed sella turcica	2990	GUSB	OMIM:253220
HP:0002681	Deformed sella turcica	4591	TRIM37	OMIM:253250
HP:0002681	Deformed sella turcica	4591	TRIM37	ORPHA:2576
HP:0002681	Deformed sella turcica	65082	VPS33A	OMIM:617303
HP:0002681	Deformed sella turcica	6023	RMRP	OMIM:607095
HP:0002681	Deformed sella turcica	79158	GNPTAB	OMIM:252600
HP:0002681	Deformed sella turcica	3425	IDUA	OMIM:607014
HP:0002681	Deformed sella turcica	23363	OBSL1	OMIM:612921
HP:0002681	Deformed sella turcica	9719	ADAMTSL2	OMIM:231050
HP:0002681	Deformed sella turcica	54808	DYM	OMIM:223800
HP:0002681	Deformed sella turcica	54808	DYM	OMIM:607326
HP:0002681	Deformed sella turcica	5727	PTCH1	OMIM:109400
HP:0002681	Deformed sella turcica	4853	NOTCH2	OMIM:102500
HP:0002681	Deformed sella turcica	5832	ALDH18A1	OMIM:616603
HP:0002681	Deformed sella turcica	2316	FLNA	OMIM:304120
HP:0002682	Broad skull	9361	LONP1	OMIM:600373
HP:0002682	Broad skull	2200	FBN1	OMIM:608328
HP:0002682	Broad skull	81794	ADAMTS10	OMIM:277600
HP:0002684	Thickened calvaria	2074	ERCC6	OMIM:133540
HP:0002684	Thickened calvaria	6424	SFRP4	OMIM:265900
HP:0002684	Thickened calvaria	4041	LRP5	ORPHA:178377
HP:0002684	Thickened calvaria	4041	LRP5	OMIM:607634
HP:0002684	Thickened calvaria	8905	AP1S2	ORPHA:85335
HP:0002684	Thickened calvaria	8905	AP1S2	OMIM:304340
HP:0002684	Thickened calvaria	9791	PTDSS1	ORPHA:2658
HP:0002684	Thickened calvaria	4038	LRP4	OMIM:614305
HP:0002684	Thickened calvaria	9842	PLEKHM1	OMIM:618107
HP:0002684	Thickened calvaria	3248	HPGD	OMIM:259100
HP:0002684	Thickened calvaria	91147	TMEM67	OMIM:602152
HP:0002684	Thickened calvaria	5745	PTH1R	OMIM:600002
HP:0002684	Thickened calvaria	4125	MAN2B1	ORPHA:309282
HP:0002684	Thickened calvaria	4125	MAN2B1	OMIM:248500
HP:0002684	Thickened calvaria	26503	SLC17A5	OMIM:604369
HP:0002684	Thickened calvaria	4089	SMAD4	OMIM:139210
HP:0002684	Thickened calvaria	4841	NONO	OMIM:300967
HP:0002684	Thickened calvaria	4841	NONO	ORPHA:466791
HP:0002684	Thickened calvaria	4854	NOTCH3	OMIM:130720
HP:0002684	Thickened calvaria	1855	DVL1	OMIM:616331
HP:0002684	Thickened calvaria	79639	TMEM53	OMIM:619727
HP:0002684	Thickened calvaria	2720	GLB1	ORPHA:79255
HP:0002684	Thickened calvaria	1161	ERCC8	OMIM:216400
HP:0002684	Thickened calvaria	79158	GNPTAB	OMIM:252500
HP:0002684	Thickened calvaria	11128	POLR3A	ORPHA:3455
HP:0002684	Thickened calvaria	57231	SNX14	ORPHA:397709
HP:0002684	Thickened calvaria	139285	AMER1	OMIM:300373
HP:0002684	Thickened calvaria	139285	AMER1	ORPHA:2780
HP:0002684	Thickened calvaria	54808	DYM	OMIM:223800
HP:0002684	Thickened calvaria	6197	RPS6KA3	OMIM:303600
HP:0002684	Thickened calvaria	64135	IFIH1	OMIM:182250
HP:0002684	Thickened calvaria	1301	COL11A1	OMIM:154780
HP:0002684	Thickened calvaria	1301	COL11A1	ORPHA:560
HP:0002684	Thickened calvaria	84295	PHF6	OMIM:301900
HP:0002684	Thickened calvaria	6611	SMS	OMIM:309583
HP:0002684	Thickened calvaria	166929	SGMS2	OMIM:126550
HP:0002684	Thickened calvaria	2778	GNAS	ORPHA:79443
HP:0002684	Thickened calvaria	2778	GNAS	OMIM:103580
HP:0002684	Thickened calvaria	4982	TNFRSF11B	OMIM:239000
HP:0002684	Thickened calvaria	860	RUNX2	OMIM:119600
HP:0002684	Thickened calvaria	5144	PDE4D	ORPHA:439822
HP:0002684	Thickened calvaria	1009	CDH11	ORPHA:1299
HP:0002684	Thickened calvaria	175	AGA	OMIM:208400
HP:0002684	Thickened calvaria	175	AGA	ORPHA:93
HP:0002684	Thickened calvaria	2316	FLNA	ORPHA:90650
HP:0002684	Thickened calvaria	2316	FLNA	ORPHA:90652
HP:0002684	Thickened calvaria	760	CA2	ORPHA:2785
HP:0002686	Pregnancy history	3767	KCNJ11	ORPHA:276580
HP:0002686	Pregnancy history	3767	KCNJ11	OMIM:610582
HP:0002686	Pregnancy history	3767	KCNJ11	OMIM:616329
HP:0002686	Pregnancy history	3767	KCNJ11	ORPHA:99886
HP:0002686	Pregnancy history	2260	FGFR1	ORPHA:280200
HP:0002686	Pregnancy history	2260	FGFR1	ORPHA:3157
HP:0002686	Pregnancy history	28514	DLL1	ORPHA:280200
HP:0002686	Pregnancy history	2253	FGF8	ORPHA:280200
HP:0002686	Pregnancy history	6496	SIX3	ORPHA:280200
HP:0002686	Pregnancy history	7050	TGIF1	ORPHA:280200
HP:0002686	Pregnancy history	4838	NODAL	ORPHA:280200
HP:0002686	Pregnancy history	6469	SHH	ORPHA:280200
HP:0002686	Pregnancy history	51684	SUFU	ORPHA:280200
HP:0002686	Pregnancy history	7546	ZIC2	ORPHA:280200
HP:0002686	Pregnancy history	2619	GAS1	ORPHA:280200
HP:0002686	Pregnancy history	84976	DISP1	ORPHA:280200
HP:0002686	Pregnancy history	2736	GLI2	ORPHA:280200
HP:0002686	Pregnancy history	8928	FOXH1	ORPHA:280200
HP:0002686	Pregnancy history	5727	PTCH1	ORPHA:280200
HP:0002686	Pregnancy history	50937	CDON	ORPHA:280200
HP:0002686	Pregnancy history	2215	FCGR3B	ORPHA:464370
HP:0002686	Pregnancy history	11330	CTRC	ORPHA:103918
HP:0002686	Pregnancy history	6690	SPINK1	ORPHA:103918
HP:0002686	Pregnancy history	8260	NAA10	OMIM:300855
HP:0002686	Pregnancy history	5468	PPARG	ORPHA:79083
HP:0002686	Pregnancy history	5468	PPARG	OMIM:604367
HP:0002686	Pregnancy history	81839	VANGL1	ORPHA:3027
HP:0002686	Pregnancy history	80199	FUZ	ORPHA:3027
HP:0002686	Pregnancy history	4524	MTHFR	ORPHA:563612
HP:0002686	Pregnancy history	4524	MTHFR	ORPHA:563609
HP:0002686	Pregnancy history	57216	VANGL2	ORPHA:563612
HP:0002686	Pregnancy history	57216	VANGL2	ORPHA:563609
HP:0002686	Pregnancy history	6927	HNF1A	ORPHA:324575
HP:0002686	Pregnancy history	2697	GJA1	ORPHA:2248
HP:0002686	Pregnancy history	1482	NKX2-5	ORPHA:2248
HP:0002686	Pregnancy history	128674	PROKR2	ORPHA:3157
HP:0002686	Pregnancy history	6657	SOX2	ORPHA:3157
HP:0002686	Pregnancy history	6658	SOX3	ORPHA:3157
HP:0002686	Pregnancy history	9915	ARNT2	ORPHA:3157
HP:0002686	Pregnancy history	8820	HESX1	ORPHA:3157
HP:0002686	Pregnancy history	5015	OTX2	ORPHA:3157
HP:0002686	Pregnancy history	1280	COL2A1	ORPHA:93346
HP:0002686	Pregnancy history	1188	CLCNKB	ORPHA:358
HP:0002686	Pregnancy history	6559	SLC12A3	ORPHA:358
HP:0002686	Pregnancy history	346171	ZFP57	ORPHA:99886
HP:0002686	Pregnancy history	57061	HYMAI	ORPHA:99886
HP:0002686	Pregnancy history	6833	ABCC8	ORPHA:99886
HP:0002686	Pregnancy history	5325	PLAGL1	ORPHA:99886
HP:0002686	Pregnancy history	5053	PAH	OMIM:261600
HP:0002687	Abnormality of frontal sinus	27019	DNAI1	OMIM:244400
HP:0002687	Abnormality of frontal sinus	1513	CTSK	OMIM:265800
HP:0002687	Abnormality of frontal sinus	4853	NOTCH2	OMIM:102500
HP:0002687	Abnormality of frontal sinus	4853	NOTCH2	ORPHA:955
HP:0002687	Abnormality of frontal sinus	546	ATRX	OMIM:301040
HP:0002687	Abnormality of frontal sinus	4591	TRIM37	OMIM:253250
HP:0002687	Abnormality of frontal sinus	257	ALX3	OMIM:136760
HP:0002687	Abnormality of frontal sinus	257	ALX3	ORPHA:391474
HP:0002687	Abnormality of frontal sinus	175	AGA	OMIM:208400
HP:0002687	Abnormality of frontal sinus	1301	COL11A1	ORPHA:560
HP:0002687	Abnormality of frontal sinus	860	RUNX2	OMIM:119600
HP:0002687	Abnormality of frontal sinus	6424	SFRP4	OMIM:265900
HP:0002687	Abnormality of frontal sinus	2316	FLNA	ORPHA:90650
HP:0002687	Abnormality of frontal sinus	2316	FLNA	ORPHA:90652
HP:0002687	Abnormality of frontal sinus	3759	KCNJ2	OMIM:170390
HP:0002687	Abnormality of frontal sinus	9526	MPDU1	ORPHA:79323
HP:0002687	Abnormality of frontal sinus	10736	SIX2	ORPHA:488437
HP:0002687	Abnormality of frontal sinus	8092	ALX1	ORPHA:306542
HP:0002688	Absent frontal sinuses	27019	DNAI1	OMIM:244400
HP:0002688	Absent frontal sinuses	1301	COL11A1	OMIM:154780
HP:0002688	Absent frontal sinuses	2316	FLNA	OMIM:305620
HP:0002688	Absent frontal sinuses	2316	FLNA	OMIM:311300
HP:0002688	Absent frontal sinuses	860	RUNX2	OMIM:119600
HP:0002688	Absent frontal sinuses	1513	CTSK	OMIM:265800
HP:0002688	Absent frontal sinuses	4591	TRIM37	OMIM:253250
HP:0002688	Absent frontal sinuses	4853	NOTCH2	OMIM:102500
HP:0002688	Absent frontal sinuses	4853	NOTCH2	ORPHA:955
HP:0002688	Absent frontal sinuses	546	ATRX	OMIM:301040
HP:0002689	Absent paranasal sinuses	860	RUNX2	OMIM:119600
HP:0002689	Absent paranasal sinuses	6424	SFRP4	OMIM:265900
HP:0009849	Symphalangism of middle phalanx of finger	9241	NOG	OMIM:186500
HP:0009849	Symphalangism of middle phalanx of finger	9241	NOG	OMIM:184460
HP:0009849	Symphalangism of middle phalanx of finger	4920	ROR2	OMIM:268310
HP:0009849	Symphalangism of middle phalanx of finger	8200	GDF5	OMIM:615298
HP:0009849	Symphalangism of middle phalanx of finger	727857	BHLHA9	OMIM:609432
HP:0009849	Symphalangism of middle phalanx of finger	7021	TFAP2B	OMIM:169100
HP:0009849	Symphalangism of middle phalanx of finger	10084	PQBP1	OMIM:309500
HP:0009849	Symphalangism of middle phalanx of finger	4841	NONO	OMIM:300967
HP:0009850	Triangular shaped middle phalanges of the hand	658	BMPR1B	OMIM:112600
HP:0009850	Triangular shaped middle phalanges of the hand	8200	GDF5	OMIM:112600
HP:0009850	Triangular shaped middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0009850	Triangular shaped middle phalanges of the hand	650	BMP2	OMIM:112600
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	8200	GDF5	OMIM:201250
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	7516	XRCC2	OMIM:617247
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	2177	FANCD2	OMIM:227646
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	64327	LMBR1	ORPHA:93321
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	6469	SHH	ORPHA:93321
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	7204	TRIO	ORPHA:476126
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	2261	FGFR3	ORPHA:15
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	2475	MTOR	OMIM:616638
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	3549	IHH	OMIM:607778
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	658	BMPR1B	OMIM:616849
HP:0002690	Large sella turcica	50964	SOST	OMIM:269500
HP:0002690	Large sella turcica	84196	USP48	ORPHA:96253
HP:0002690	Large sella turcica	7157	TP53	ORPHA:96253
HP:0002690	Large sella turcica	9101	USP8	ORPHA:96253
HP:0002690	Large sella turcica	64072	CDH23	ORPHA:96253
HP:0002690	Large sella turcica	2908	NR3C1	ORPHA:96253
HP:0002690	Large sella turcica	673	BRAF	ORPHA:96253
HP:0002690	Large sella turcica	546	ATRX	ORPHA:96253
HP:0002690	Large sella turcica	23102	TBC1D2B	ORPHA:397973
HP:0002690	Large sella turcica	5116	PCNT	OMIM:210720
HP:0002690	Large sella turcica	57688	ZSWIM6	ORPHA:1827
HP:0002690	Large sella turcica	57688	ZSWIM6	OMIM:603671
HP:0002690	Large sella turcica	2720	GLB1	ORPHA:79255
HP:0002690	Large sella turcica	79158	GNPTAB	OMIM:252500
HP:0002690	Large sella turcica	7252	TSHB	ORPHA:90674
HP:0002690	Large sella turcica	10060	ABCC9	OMIM:239850
HP:0002691	Platybasia	23387	SIK3	OMIM:618162
HP:0002691	Platybasia	25970	SH2B1	ORPHA:261197
HP:0002691	Platybasia	4854	NOTCH3	OMIM:130720
HP:0002691	Platybasia	3930	LBR	OMIM:618019
HP:0002691	Platybasia	4853	NOTCH2	ORPHA:955
HP:0002691	Platybasia	2317	FLNB	OMIM:272460
HP:0002691	Platybasia	1277	COL1A1	OMIM:259420
HP:0002691	Platybasia	1278	COL1A2	OMIM:259420
HP:0002691	Platybasia	1312	COMT	ORPHA:567
HP:0002691	Platybasia	221037	JMJD1C	ORPHA:567
HP:0002691	Platybasia	2812	GP1BB	ORPHA:567
HP:0002691	Platybasia	6239	RREB1	ORPHA:567
HP:0002691	Platybasia	6899	TBX1	ORPHA:567
HP:0002691	Platybasia	7290	HIRA	ORPHA:567
HP:0002691	Platybasia	9632	SEC24C	ORPHA:567
HP:0002691	Platybasia	7353	UFD1	ORPHA:567
HP:0002691	Platybasia	421	ARVCF	ORPHA:567
HP:0002692	Hypoplastic facial bones	9896	FIG4	OMIM:216340
HP:0002692	Hypoplastic facial bones	54808	DYM	OMIM:223800
HP:0002692	Hypoplastic facial bones	54808	DYM	OMIM:607326
HP:0002692	Hypoplastic facial bones	11128	POLR3A	OMIM:264090
HP:0002692	Hypoplastic facial bones	153241	CEP120	OMIM:616300
HP:0002692	Hypoplastic facial bones	4000	LMNA	OMIM:619793
HP:0002692	Hypoplastic facial bones	10992	SF3B2	OMIM:164210
HP:0002692	Hypoplastic facial bones	2260	FGFR1	OMIM:615465
HP:0002692	Hypoplastic facial bones	4524	MTHFR	ORPHA:563612
HP:0002692	Hypoplastic facial bones	57216	VANGL2	ORPHA:563612
HP:0002692	Hypoplastic facial bones	8092	ALX1	ORPHA:306542
HP:0002692	Hypoplastic facial bones	5727	PTCH1	OMIM:610828
HP:0002692	Hypoplastic facial bones	2736	GLI2	OMIM:610829
HP:0002692	Hypoplastic facial bones	64093	SMOC1	ORPHA:1106
HP:0002692	Hypoplastic facial bones	23019	CNOT1	ORPHA:556955
HP:0002692	Hypoplastic facial bones	23019	CNOT1	OMIM:618500
HP:0002692	Hypoplastic facial bones	157680	VPS13B	ORPHA:193
HP:0002692	Hypoplastic facial bones	51594	NBAS	OMIM:614800
HP:0002692	Hypoplastic facial bones	6804	STX1A	ORPHA:904
HP:0002692	Hypoplastic facial bones	7461	CLIP2	ORPHA:904
HP:0002692	Hypoplastic facial bones	84277	DNAJC30	ORPHA:904
HP:0002692	Hypoplastic facial bones	8468	FKBP6	ORPHA:904
HP:0002692	Hypoplastic facial bones	5982	RFC2	ORPHA:904
HP:0002692	Hypoplastic facial bones	2969	GTF2I	ORPHA:904
HP:0002692	Hypoplastic facial bones	3984	LIMK1	ORPHA:904
HP:0002692	Hypoplastic facial bones	9569	GTF2IRD1	ORPHA:904
HP:0002692	Hypoplastic facial bones	155382	VPS37D	ORPHA:904
HP:0002692	Hypoplastic facial bones	155368	METTL27	ORPHA:904
HP:0002692	Hypoplastic facial bones	114049	BUD23	ORPHA:904
HP:0002692	Hypoplastic facial bones	7458	EIF4H	ORPHA:904
HP:0002692	Hypoplastic facial bones	84163	GTF2IRD2	ORPHA:904
HP:0002692	Hypoplastic facial bones	9275	BCL7B	ORPHA:904
HP:0002692	Hypoplastic facial bones	26608	TBL2	ORPHA:904
HP:0002692	Hypoplastic facial bones	653361	NCF1	ORPHA:904
HP:0002692	Hypoplastic facial bones	135886	TMEM270	ORPHA:904
HP:0002692	Hypoplastic facial bones	51085	MLXIPL	ORPHA:904
HP:0002692	Hypoplastic facial bones	9031	BAZ1B	ORPHA:904
HP:0002692	Hypoplastic facial bones	2006	ELN	ORPHA:904
HP:0002692	Hypoplastic facial bones	5604	MAP2K1	ORPHA:1340
HP:0002692	Hypoplastic facial bones	5605	MAP2K2	ORPHA:1340
HP:0002692	Hypoplastic facial bones	3845	KRAS	ORPHA:1340
HP:0002692	Hypoplastic facial bones	673	BRAF	ORPHA:1340
HP:0002692	Hypoplastic facial bones	8481	OFD1	ORPHA:2750
HP:0002692	Hypoplastic facial bones	5184	PEPD	ORPHA:742
HP:0002692	Hypoplastic facial bones	51082	POLR1D	OMIM:613717
HP:0002692	Hypoplastic facial bones	51082	POLR1D	ORPHA:861
HP:0002692	Hypoplastic facial bones	117581	TWIST2	ORPHA:920
HP:0002692	Hypoplastic facial bones	117581	TWIST2	OMIM:200110
HP:0002692	Hypoplastic facial bones	10262	SF3B4	ORPHA:245
HP:0002692	Hypoplastic facial bones	84172	POLR1B	ORPHA:861
HP:0002692	Hypoplastic facial bones	9533	POLR1C	ORPHA:861
HP:0002692	Hypoplastic facial bones	9533	POLR1C	OMIM:248390
HP:0002692	Hypoplastic facial bones	6949	TCOF1	ORPHA:861
HP:0002692	Hypoplastic facial bones	1301	COL11A1	ORPHA:560
HP:0002692	Hypoplastic facial bones	2263	FGFR2	ORPHA:1555
HP:0002692	Hypoplastic facial bones	860	RUNX2	ORPHA:1452
HP:0002692	Hypoplastic facial bones	5818	NECTIN1	ORPHA:3253
HP:0002692	Hypoplastic facial bones	4853	NOTCH2	ORPHA:955
HP:0002692	Hypoplastic facial bones	55636	CHD7	ORPHA:138
HP:0002692	Hypoplastic facial bones	9723	SEMA3E	ORPHA:138
HP:0002693	Abnormal skull base morphology	9839	ZEB2	ORPHA:261537
HP:0002693	Abnormal skull base morphology	9839	ZEB2	ORPHA:261552
HP:0002693	Abnormal skull base morphology	23556	PIGN	ORPHA:280633
HP:0002693	Abnormal skull base morphology	1387	CREBBP	ORPHA:353281
HP:0002693	Abnormal skull base morphology	1387	CREBBP	ORPHA:353277
HP:0002693	Abnormal skull base morphology	4488	MSX2	ORPHA:60015
HP:0002693	Abnormal skull base morphology	60529	ALX4	ORPHA:60015
HP:0002693	Abnormal skull base morphology	91869	RFT1	ORPHA:244310
HP:0002693	Abnormal skull base morphology	2033	EP300	ORPHA:353284
HP:0002693	Abnormal skull base morphology	27077	B9D1	OMIM:614209
HP:0002693	Abnormal skull base morphology	10682	EBP	ORPHA:401973
HP:0002693	Abnormal skull base morphology	10682	EBP	OMIM:300960
HP:0002693	Abnormal skull base morphology	10682	EBP	OMIM:302960
HP:0002693	Abnormal skull base morphology	56896	DPYSL5	OMIM:619435
HP:0002693	Abnormal skull base morphology	3265	HRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	3845	KRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	4893	NRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	4893	NRAS	OMIM:249400
HP:0002693	Abnormal skull base morphology	65062	TMEM237	OMIM:614424
HP:0002693	Abnormal skull base morphology	65062	TMEM237	ORPHA:564
HP:0002693	Abnormal skull base morphology	7545	ZIC1	OMIM:616602
HP:0002693	Abnormal skull base morphology	7545	ZIC1	OMIM:618736
HP:0002693	Abnormal skull base morphology	84942	WDR73	OMIM:251300
HP:0002693	Abnormal skull base morphology	2737	GLI3	ORPHA:36
HP:0002693	Abnormal skull base morphology	374654	KIF7	ORPHA:36
HP:0002693	Abnormal skull base morphology	57465	TBC1D24	OMIM:220500
HP:0002693	Abnormal skull base morphology	57465	TBC1D24	ORPHA:79500
HP:0002693	Abnormal skull base morphology	55112	DYNC2I1	ORPHA:93271
HP:0002693	Abnormal skull base morphology	57560	IFT80	ORPHA:93271
HP:0002693	Abnormal skull base morphology	57539	WDR35	ORPHA:93271
HP:0002693	Abnormal skull base morphology	79659	DYNC2H1	ORPHA:93271
HP:0002693	Abnormal skull base morphology	89891	DYNC2I2	ORPHA:93271
HP:0002693	Abnormal skull base morphology	84162	BLTP1	OMIM:617822
HP:0002693	Abnormal skull base morphology	4081	MAB21L1	OMIM:618479
HP:0002693	Abnormal skull base morphology	51259	TMEM216	OMIM:603194
HP:0002693	Abnormal skull base morphology	51259	TMEM216	ORPHA:564
HP:0002693	Abnormal skull base morphology	55636	CHD7	ORPHA:138
HP:0002693	Abnormal skull base morphology	9723	SEMA3E	ORPHA:138
HP:0002693	Abnormal skull base morphology	84892	POMGNT2	ORPHA:899
HP:0002693	Abnormal skull base morphology	148789	B3GALNT2	ORPHA:899
HP:0002693	Abnormal skull base morphology	1282	COL4A1	ORPHA:899
HP:0002693	Abnormal skull base morphology	729920	CRPPA	ORPHA:899
HP:0002693	Abnormal skull base morphology	729920	CRPPA	OMIM:614643
HP:0002693	Abnormal skull base morphology	10329	RXYLT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	1605	DAG1	ORPHA:899
HP:0002693	Abnormal skull base morphology	11041	B4GAT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	11041	B4GAT1	OMIM:615287
HP:0002693	Abnormal skull base morphology	55624	POMGNT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	79068	FTO	OMIM:612938
HP:0002693	Abnormal skull base morphology	57492	ARID1B	OMIM:135900
HP:0002693	Abnormal skull base morphology	57492	ARID1B	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6597	SMARCA4	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6597	SMARCA4	OMIM:614609
HP:0002693	Abnormal skull base morphology	6598	SMARCB1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6598	SMARCB1	OMIM:614608
HP:0002693	Abnormal skull base morphology	6659	SOX4	ORPHA:1465
HP:0002693	Abnormal skull base morphology	8289	ARID1A	ORPHA:1465
HP:0002693	Abnormal skull base morphology	8289	ARID1A	OMIM:614607
HP:0002693	Abnormal skull base morphology	5977	DPF2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6601	SMARCC2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6602	SMARCD1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	196528	ARID2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6605	SMARCE1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6605	SMARCE1	OMIM:616938
HP:0002693	Abnormal skull base morphology	6664	SOX11	ORPHA:1465
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	OMIM:219200
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002693	Abnormal skull base morphology	27315	PGAP2	OMIM:614207
HP:0002693	Abnormal skull base morphology	157570	ESCO2	ORPHA:2319
HP:0002693	Abnormal skull base morphology	5340	PLG	ORPHA:722
HP:0002693	Abnormal skull base morphology	5340	PLG	OMIM:217090
HP:0002693	Abnormal skull base morphology	1717	DHCR7	OMIM:270400
HP:0002693	Abnormal skull base morphology	84314	TMEM107	ORPHA:564
HP:0002693	Abnormal skull base morphology	26123	TCTN3	ORPHA:564
HP:0002693	Abnormal skull base morphology	79867	TCTN2	ORPHA:564
HP:0002693	Abnormal skull base morphology	80776	B9D2	ORPHA:564
HP:0002693	Abnormal skull base morphology	80776	B9D2	OMIM:614175
HP:0002693	Abnormal skull base morphology	79600	TCTN1	ORPHA:564
HP:0002693	Abnormal skull base morphology	57096	RPGRIP1	ORPHA:564
HP:0002693	Abnormal skull base morphology	80184	CEP290	ORPHA:564
HP:0002693	Abnormal skull base morphology	80184	CEP290	OMIM:611134
HP:0002693	Abnormal skull base morphology	57545	CC2D2A	ORPHA:564
HP:0002693	Abnormal skull base morphology	79583	TMEM231	ORPHA:564
HP:0002693	Abnormal skull base morphology	79583	TMEM231	ORPHA:2752
HP:0002693	Abnormal skull base morphology	91147	TMEM67	ORPHA:564
HP:0002693	Abnormal skull base morphology	91147	TMEM67	OMIM:607361
HP:0002693	Abnormal skull base morphology	79770	TXNDC15	ORPHA:564
HP:0002693	Abnormal skull base morphology	23322	RPGRIP1L	ORPHA:564
HP:0002693	Abnormal skull base morphology	54903	MKS1	ORPHA:564
HP:0002693	Abnormal skull base morphology	54903	MKS1	OMIM:249000
HP:0002693	Abnormal skull base morphology	27031	NPHP3	OMIM:267010
HP:0002693	Abnormal skull base morphology	27031	NPHP3	OMIM:208540
HP:0002693	Abnormal skull base morphology	27031	NPHP3	ORPHA:3032
HP:0002693	Abnormal skull base morphology	23258	DENND5A	OMIM:617281
HP:0002693	Abnormal skull base morphology	171023	ASXL1	ORPHA:97297
HP:0002693	Abnormal skull base morphology	171023	ASXL1	OMIM:605039
HP:0002693	Abnormal skull base morphology	9184	BUB3	ORPHA:1052
HP:0002693	Abnormal skull base morphology	699	BUB1	ORPHA:1052
HP:0002693	Abnormal skull base morphology	9702	CEP57	ORPHA:1052
HP:0002693	Abnormal skull base morphology	9319	TRIP13	ORPHA:1052
HP:0002693	Abnormal skull base morphology	701	BUB1B	ORPHA:1052
HP:0002693	Abnormal skull base morphology	701	BUB1B	OMIM:257300
HP:0002693	Abnormal skull base morphology	2260	FGFR1	OMIM:613001
HP:0002693	Abnormal skull base morphology	124997	WDR81	OMIM:617967
HP:0002693	Abnormal skull base morphology	2683	B4GALT1	OMIM:607091
HP:0002693	Abnormal skull base morphology	2683	B4GALT1	ORPHA:79332
HP:0002693	Abnormal skull base morphology	26005	C2CD3	OMIM:615948
HP:0002693	Abnormal skull base morphology	26005	C2CD3	ORPHA:434179
HP:0002693	Abnormal skull base morphology	26227	PHGDH	OMIM:256520
HP:0002693	Abnormal skull base morphology	10804	GJB6	ORPHA:477
HP:0002693	Abnormal skull base morphology	2706	GJB2	ORPHA:477
HP:0002693	Abnormal skull base morphology	4927	NUP88	ORPHA:994
HP:0002693	Abnormal skull base morphology	7846	TUBA1A	ORPHA:994
HP:0002693	Abnormal skull base morphology	4654	MYOD1	ORPHA:994
HP:0002693	Abnormal skull base morphology	4593	MUSK	ORPHA:994
HP:0002693	Abnormal skull base morphology	5913	RAPSN	ORPHA:994
HP:0002693	Abnormal skull base morphology	6572	SLC18A3	ORPHA:994
HP:0002693	Abnormal skull base morphology	285489	DOK7	ORPHA:994
HP:0002693	Abnormal skull base morphology	7737	RNF113A	OMIM:300953
HP:0002693	Abnormal skull base morphology	56006	SMG9	OMIM:616920
HP:0002693	Abnormal skull base morphology	998	CDC42	ORPHA:487796
HP:0002693	Abnormal skull base morphology	51524	TMEM138	OMIM:614465
HP:0002693	Abnormal skull base morphology	8239	USP9X	ORPHA:480880
HP:0002693	Abnormal skull base morphology	8239	USP9X	OMIM:300968
HP:0002693	Abnormal skull base morphology	11128	POLR3A	OMIM:264090
HP:0002693	Abnormal skull base morphology	4534	MTM1	OMIM:310400
HP:0002693	Abnormal skull base morphology	526	ATP6V1B2	ORPHA:79500
HP:0002693	Abnormal skull base morphology	54880	BCOR	OMIM:300166
HP:0002693	Abnormal skull base morphology	203068	TUBB	OMIM:156610
HP:0002693	Abnormal skull base morphology	55640	FLVCR2	OMIM:225790
HP:0002693	Abnormal skull base morphology	28952	CCDC22	OMIM:300963
HP:0002693	Abnormal skull base morphology	28952	CCDC22	ORPHA:7
HP:0002693	Abnormal skull base morphology	80210	ARMC9	OMIM:617622
HP:0002693	Abnormal skull base morphology	5500	PPP1CB	OMIM:617506
HP:0002693	Abnormal skull base morphology	54676	GTPBP2	OMIM:617988
HP:0002693	Abnormal skull base morphology	63895	PIEZO2	OMIM:248700
HP:0002693	Abnormal skull base morphology	2239	GPC4	ORPHA:373
HP:0002693	Abnormal skull base morphology	2719	GPC3	ORPHA:373
HP:0002693	Abnormal skull base morphology	2121	EVC	OMIM:225500
HP:0002693	Abnormal skull base morphology	132884	EVC2	OMIM:225500
HP:0002693	Abnormal skull base morphology	153241	CEP120	OMIM:616300
HP:0002693	Abnormal skull base morphology	523	ATP6V1A	ORPHA:357074
HP:0002693	Abnormal skull base morphology	529	ATP6V1E1	ORPHA:357074
HP:0002693	Abnormal skull base morphology	3798	KIF5A	OMIM:617235
HP:0002693	Abnormal skull base morphology	1028	CDKN1C	OMIM:130650
HP:0002693	Abnormal skull base morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002693	Abnormal skull base morphology	3481	IGF2	OMIM:130650
HP:0002693	Abnormal skull base morphology	3784	KCNQ1	OMIM:130650
HP:0002693	Abnormal skull base morphology	1376	CPT2	ORPHA:228305
HP:0002693	Abnormal skull base morphology	10195	ALG3	ORPHA:79321
HP:0002693	Abnormal skull base morphology	4281	MID1	ORPHA:2745
HP:0002693	Abnormal skull base morphology	8905	AP1S2	OMIM:304340
HP:0002693	Abnormal skull base morphology	11340	EXOSC8	OMIM:616081
HP:0002693	Abnormal skull base morphology	3572	IL6ST	OMIM:619751
HP:0002693	Abnormal skull base morphology	65250	CPLANE1	OMIM:277170
HP:0002693	Abnormal skull base morphology	348180	CTU2	OMIM:618142
HP:0002693	Abnormal skull base morphology	23241	PACS2	OMIM:618067
HP:0002693	Abnormal skull base morphology	22931	RAB18	OMIM:614222
HP:0002693	Abnormal skull base morphology	2972	BRF1	OMIM:616202
HP:0002693	Abnormal skull base morphology	2972	BRF1	ORPHA:444072
HP:0002693	Abnormal skull base morphology	4983	OPHN1	ORPHA:137831
HP:0002693	Abnormal skull base morphology	4983	OPHN1	OMIM:300486
HP:0002693	Abnormal skull base morphology	23126	POGZ	ORPHA:468678
HP:0002693	Abnormal skull base morphology	64324	NSD1	ORPHA:821
HP:0002693	Abnormal skull base morphology	64324	NSD1	OMIM:117550
HP:0002693	Abnormal skull base morphology	29072	SETD2	ORPHA:821
HP:0002693	Abnormal skull base morphology	10297	APC2	ORPHA:821
HP:0002693	Abnormal skull base morphology	79848	CSPP1	ORPHA:397715
HP:0002693	Abnormal skull base morphology	9786	KIAA0586	ORPHA:397715
HP:0002693	Abnormal skull base morphology	9786	KIAA0586	OMIM:616546
HP:0002693	Abnormal skull base morphology	51611	DPH5	OMIM:620070
HP:0002693	Abnormal skull base morphology	128869	PIGU	OMIM:618590
HP:0002693	Abnormal skull base morphology	84197	POMK	OMIM:616094
HP:0002693	Abnormal skull base morphology	285590	SH3PXD2B	OMIM:249420
HP:0002693	Abnormal skull base morphology	1436	CSF1R	OMIM:618476
HP:0002693	Abnormal skull base morphology	10300	KATNB1	OMIM:616212
HP:0002693	Abnormal skull base morphology	2317	FLNB	ORPHA:1190
HP:0002693	Abnormal skull base morphology	4849	CNOT3	OMIM:618672
HP:0002693	Abnormal skull base morphology	7443	VRK1	OMIM:607596
HP:0002693	Abnormal skull base morphology	10978	CLP1	OMIM:615803
HP:0002693	Abnormal skull base morphology	9382	COG1	ORPHA:263508
HP:0002693	Abnormal skull base morphology	5373	PMM2	ORPHA:79318
HP:0002693	Abnormal skull base morphology	5373	PMM2	OMIM:212065
HP:0002693	Abnormal skull base morphology	80267	EDEM3	OMIM:619493
HP:0002693	Abnormal skull base morphology	4718	NDUFC2	OMIM:619170
HP:0002693	Abnormal skull base morphology	23007	PLCH1	OMIM:619895
HP:0002693	Abnormal skull base morphology	7355	SLC35A2	OMIM:300896
HP:0002693	Abnormal skull base morphology	5879	RAC1	OMIM:617751
HP:0002693	Abnormal skull base morphology	5879	RAC1	ORPHA:500159
HP:0002693	Abnormal skull base morphology	4125	MAN2B1	OMIM:248500
HP:0002693	Abnormal skull base morphology	3899	AFF3	OMIM:619297
HP:0002693	Abnormal skull base morphology	10585	POMT1	OMIM:613155
HP:0002693	Abnormal skull base morphology	738	VPS51	OMIM:618606
HP:0002693	Abnormal skull base morphology	8481	OFD1	OMIM:300804
HP:0002693	Abnormal skull base morphology	267010	RNU12	OMIM:620208
HP:0002693	Abnormal skull base morphology	8815	BANF1	OMIM:614008
HP:0002693	Abnormal skull base morphology	23219	FBXO28	OMIM:619777
HP:0002693	Abnormal skull base morphology	51684	SUFU	OMIM:617757
HP:0002693	Abnormal skull base morphology	284086	NEK8	OMIM:615415
HP:0002693	Abnormal skull base morphology	5430	POLR2A	OMIM:618603
HP:0002693	Abnormal skull base morphology	1000	CDH2	OMIM:618929
HP:0002693	Abnormal skull base morphology	501	ALDH7A1	ORPHA:3006
HP:0002693	Abnormal skull base morphology	11212	PLPBP	ORPHA:3006
HP:0002693	Abnormal skull base morphology	84188	FAR1	ORPHA:447753
HP:0002693	Abnormal skull base morphology	5832	ALDH18A1	ORPHA:447753
HP:0002693	Abnormal skull base morphology	37	ACADVL	ORPHA:26793
HP:0002693	Abnormal skull base morphology	2296	FOXC1	OMIM:601631
HP:0002693	Abnormal skull base morphology	25970	SH2B1	ORPHA:261197
HP:0002693	Abnormal skull base morphology	5307	PITX1	OMIM:119800
HP:0002693	Abnormal skull base morphology	8884	SLC5A6	OMIM:618973
HP:0002693	Abnormal skull base morphology	23203	PMPCA	ORPHA:1170
HP:0002693	Abnormal skull base morphology	51300	TIMMDC1	OMIM:618251
HP:0002693	Abnormal skull base morphology	57716	PRX	OMIM:614895
HP:0002693	Abnormal skull base morphology	8550	MAPKAPK5	OMIM:619869
HP:0002693	Abnormal skull base morphology	10736	SIX2	ORPHA:488437
HP:0002693	Abnormal skull base morphology	2778	GNAS	ORPHA:562
HP:0002693	Abnormal skull base morphology	6913	TBX15	ORPHA:93333
HP:0002693	Abnormal skull base morphology	139285	AMER1	OMIM:300373
HP:0002693	Abnormal skull base morphology	3930	LBR	OMIM:215140
HP:0002693	Abnormal skull base morphology	23387	SIK3	OMIM:618162
HP:0002693	Abnormal skull base morphology	54	ACP5	OMIM:607944
HP:0002693	Abnormal skull base morphology	4854	NOTCH3	OMIM:130720
HP:0002693	Abnormal skull base morphology	7040	TGFB1	OMIM:131300
HP:0002693	Abnormal skull base morphology	79639	TMEM53	OMIM:619727
HP:0002693	Abnormal skull base morphology	56172	ANKH	OMIM:123000
HP:0002693	Abnormal skull base morphology	8792	TNFRSF11A	OMIM:602080
HP:0002693	Abnormal skull base morphology	2316	FLNA	ORPHA:1826
HP:0002693	Abnormal skull base morphology	2316	FLNA	OMIM:304120
HP:0002693	Abnormal skull base morphology	6885	MAP3K7	ORPHA:1826
HP:0002693	Abnormal skull base morphology	26040	SETBP1	OMIM:269150
HP:0002693	Abnormal skull base morphology	26040	SETBP1	ORPHA:798
HP:0002693	Abnormal skull base morphology	388015	RTL1	ORPHA:96334
HP:0002693	Abnormal skull base morphology	8788	DLK1	ORPHA:96334
HP:0002693	Abnormal skull base morphology	55384	MEG3	ORPHA:96334
HP:0002693	Abnormal skull base morphology	6522	SLC4A2	OMIM:620366
HP:0002693	Abnormal skull base morphology	5745	PTH1R	OMIM:156400
HP:0002693	Abnormal skull base morphology	7280	TUBB2A	OMIM:615763
HP:0002693	Abnormal skull base morphology	55777	MBD5	OMIM:156200
HP:0002693	Abnormal skull base morphology	10060	ABCC9	OMIM:239850
HP:0002693	Abnormal skull base morphology	9791	PTDSS1	OMIM:151050
HP:0002693	Abnormal skull base morphology	4853	NOTCH2	OMIM:102500
HP:0002693	Abnormal skull base morphology	26137	ZBTB20	OMIM:259050
HP:0002693	Abnormal skull base morphology	1277	COL1A1	OMIM:259420
HP:0002693	Abnormal skull base morphology	1278	COL1A2	OMIM:259420
HP:0002693	Abnormal skull base morphology	9897	WASHC5	OMIM:220210
HP:0002693	Abnormal skull base morphology	2073	ERCC5	OMIM:616570
HP:0002693	Abnormal skull base morphology	30813	VSX1	OMIM:614195
HP:0002693	Abnormal skull base morphology	392255	GDF6	OMIM:118100
HP:0002693	Abnormal skull base morphology	5159	PDGFRB	OMIM:601812
HP:0002693	Abnormal skull base morphology	18	ABAT	OMIM:613163
HP:0002693	Abnormal skull base morphology	727676	SNORD118	ORPHA:542310
HP:0002693	Abnormal skull base morphology	1801	DPH1	ORPHA:459061
HP:0002693	Abnormal skull base morphology	29954	POMT2	OMIM:236670
HP:0002693	Abnormal skull base morphology	9215	LARGE1	OMIM:236670
HP:0002693	Abnormal skull base morphology	79147	FKRP	OMIM:236670
HP:0002693	Abnormal skull base morphology	2218	FKTN	OMIM:236670
HP:0002693	Abnormal skull base morphology	2263	FGFR2	OMIM:101200
HP:0002693	Abnormal skull base morphology	219844	HYLS1	OMIM:236680
HP:0002693	Abnormal skull base morphology	22943	DKK1	ORPHA:268882
HP:0002693	Abnormal skull base morphology	57688	ZSWIM6	OMIM:603671
HP:0002693	Abnormal skull base morphology	126792	B3GALT6	ORPHA:536467
HP:0002693	Abnormal skull base morphology	55719	SLF2	OMIM:620184
HP:0002693	Abnormal skull base morphology	4617	MYF5	OMIM:618155
HP:0002693	Abnormal skull base morphology	22827	PUF60	ORPHA:508498
HP:0002693	Abnormal skull base morphology	8496	PPFIBP1	OMIM:620024
HP:0002693	Abnormal skull base morphology	80199	FUZ	ORPHA:1136
HP:0002693	Abnormal skull base morphology	4361	MRE11	ORPHA:251347
HP:0002693	Abnormal skull base morphology	129685	TAF8	OMIM:619972
HP:0002693	Abnormal skull base morphology	6658	SOX3	ORPHA:67045
HP:0002694	Sclerosis of skull base	139285	AMER1	OMIM:300373
HP:0002694	Sclerosis of skull base	3930	LBR	OMIM:215140
HP:0002694	Sclerosis of skull base	23387	SIK3	OMIM:618162
HP:0002694	Sclerosis of skull base	54	ACP5	OMIM:607944
HP:0002694	Sclerosis of skull base	4854	NOTCH3	OMIM:130720
HP:0002694	Sclerosis of skull base	7040	TGFB1	OMIM:131300
HP:0002694	Sclerosis of skull base	79639	TMEM53	OMIM:619727
HP:0002694	Sclerosis of skull base	56172	ANKH	OMIM:123000
HP:0002694	Sclerosis of skull base	8792	TNFRSF11A	OMIM:602080
HP:0002694	Sclerosis of skull base	2316	FLNA	ORPHA:1826
HP:0002694	Sclerosis of skull base	2316	FLNA	OMIM:304120
HP:0002694	Sclerosis of skull base	6885	MAP3K7	ORPHA:1826
HP:0002694	Sclerosis of skull base	26040	SETBP1	OMIM:269150
HP:0002694	Sclerosis of skull base	26040	SETBP1	ORPHA:798
HP:0002694	Sclerosis of skull base	388015	RTL1	ORPHA:96334
HP:0002694	Sclerosis of skull base	8788	DLK1	ORPHA:96334
HP:0002694	Sclerosis of skull base	55384	MEG3	ORPHA:96334
HP:0002694	Sclerosis of skull base	9791	PTDSS1	OMIM:151050
HP:0002697	Parietal foramina	267010	RNU12	OMIM:603116
HP:0002697	Parietal foramina	8493	PPM1D	OMIM:617450
HP:0002697	Parietal foramina	4488	MSX2	ORPHA:60015
HP:0002697	Parietal foramina	4488	MSX2	OMIM:168550
HP:0002697	Parietal foramina	4488	MSX2	OMIM:168500
HP:0002697	Parietal foramina	60529	ALX4	ORPHA:60015
HP:0002697	Parietal foramina	60529	ALX4	OMIM:613451
HP:0002697	Parietal foramina	60529	ALX4	OMIM:609597
HP:0002697	Parietal foramina	60529	ALX4	ORPHA:52022
HP:0002697	Parietal foramina	1387	CREBBP	OMIM:180849
HP:0002697	Parietal foramina	2033	EP300	OMIM:180849
HP:0002697	Parietal foramina	7291	TWIST1	OMIM:101400
HP:0002697	Parietal foramina	2263	FGFR2	OMIM:101400
HP:0002697	Parietal foramina	7545	ZIC1	OMIM:616602
HP:0002697	Parietal foramina	57688	ZSWIM6	OMIM:603671
HP:0002697	Parietal foramina	6223	RPS19	OMIM:105650
HP:0002697	Parietal foramina	2132	EXT2	ORPHA:52022
HP:0002697	Parietal foramina	51317	PHF21A	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	5727	PTCH1	OMIM:610828
HP:0002696	Abnormal parietal bone morphology	5727	PTCH1	OMIM:109400
HP:0002696	Abnormal parietal bone morphology	2261	FGFR3	ORPHA:15
HP:0002696	Abnormal parietal bone morphology	3845	KRAS	OMIM:600268
HP:0002696	Abnormal parietal bone morphology	860	RUNX2	OMIM:119600
HP:0002696	Abnormal parietal bone morphology	5781	PTPN11	OMIM:151100
HP:0002696	Abnormal parietal bone morphology	9526	MPDU1	OMIM:609180
HP:0002696	Abnormal parietal bone morphology	9526	MPDU1	ORPHA:79323
HP:0002696	Abnormal parietal bone morphology	11128	POLR3A	OMIM:264090
HP:0002696	Abnormal parietal bone morphology	9896	FIG4	ORPHA:3472
HP:0002696	Abnormal parietal bone morphology	55697	VAC14	ORPHA:3472
HP:0002696	Abnormal parietal bone morphology	84992	PIGY	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	84720	PIGO	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	93210	PGAP3	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	284098	PIGW	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	27315	PGAP2	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	55650	PIGV	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	9487	PIGL	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	267010	RNU12	OMIM:603116
HP:0002696	Abnormal parietal bone morphology	8493	PPM1D	OMIM:617450
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	ORPHA:60015
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	OMIM:168550
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	OMIM:168500
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	ORPHA:60015
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	OMIM:613451
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	OMIM:609597
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	1387	CREBBP	OMIM:180849
HP:0002696	Abnormal parietal bone morphology	2033	EP300	OMIM:180849
HP:0002696	Abnormal parietal bone morphology	7291	TWIST1	OMIM:101400
HP:0002696	Abnormal parietal bone morphology	2263	FGFR2	OMIM:101400
HP:0002696	Abnormal parietal bone morphology	7545	ZIC1	OMIM:616602
HP:0002696	Abnormal parietal bone morphology	57688	ZSWIM6	OMIM:603671
HP:0002696	Abnormal parietal bone morphology	6223	RPS19	OMIM:105650
HP:0002696	Abnormal parietal bone morphology	2132	EXT2	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	51317	PHF21A	ORPHA:52022
HP:0004437	Cranial hyperostosis	5290	PIK3CA	OMIM:612918
HP:0004437	Cranial hyperostosis	4125	MAN2B1	ORPHA:309282
HP:0004437	Cranial hyperostosis	4982	TNFRSF11B	ORPHA:2801
HP:0004437	Cranial hyperostosis	57187	THOC2	ORPHA:457240
HP:0004437	Cranial hyperostosis	760	CA2	OMIM:259730
HP:0004437	Cranial hyperostosis	8600	TNFSF11	OMIM:259710
HP:0004437	Cranial hyperostosis	28962	OSTM1	OMIM:259720
HP:0004437	Cranial hyperostosis	7840	ALMS1	ORPHA:64
HP:0004437	Cranial hyperostosis	7840	ALMS1	OMIM:203800
HP:0004437	Cranial hyperostosis	1277	COL1A1	ORPHA:1310
HP:0004437	Cranial hyperostosis	1277	COL1A1	OMIM:114000
HP:0004437	Cranial hyperostosis	5573	PRKAR1A	OMIM:101800
HP:0004437	Cranial hyperostosis	3425	IDUA	OMIM:607014
HP:0004437	Cranial hyperostosis	84701	COX4I2	OMIM:612714
HP:0004437	Cranial hyperostosis	3178	HNRNPA1	ORPHA:52430
HP:0004437	Cranial hyperostosis	7415	VCP	ORPHA:52430
HP:0004437	Cranial hyperostosis	3181	HNRNPA2B1	ORPHA:52430
HP:0004437	Cranial hyperostosis	5728	PTEN	ORPHA:744
HP:0004437	Cranial hyperostosis	4038	LRP4	ORPHA:3152
HP:0004437	Cranial hyperostosis	4041	LRP5	ORPHA:2790
HP:0004437	Cranial hyperostosis	6197	RPS6KA3	ORPHA:192
HP:0004437	Cranial hyperostosis	2778	GNAS	OMIM:174800
HP:0004437	Cranial hyperostosis	56172	ANKH	ORPHA:1522
HP:0004437	Cranial hyperostosis	4854	NOTCH3	ORPHA:2789
HP:0004437	Cranial hyperostosis	126792	B3GALT6	ORPHA:2725
HP:0004437	Cranial hyperostosis	10312	TCIRG1	ORPHA:1782
HP:0004437	Cranial hyperostosis	55315	SLC29A3	ORPHA:1782
HP:0004437	Cranial hyperostosis	8792	TNFRSF11A	ORPHA:1782
HP:0004437	Cranial hyperostosis	2260	FGFR1	ORPHA:2396
HP:0004437	Cranial hyperostosis	3845	KRAS	ORPHA:2396
HP:0004437	Cranial hyperostosis	2316	FLNA	ORPHA:2484
HP:0004437	Cranial hyperostosis	6916	TBXAS1	ORPHA:1802
HP:0004437	Cranial hyperostosis	4089	SMAD4	ORPHA:2588
HP:0004437	Cranial hyperostosis	2068	ERCC2	ORPHA:910
HP:0004437	Cranial hyperostosis	7507	XPA	ORPHA:910
HP:0004437	Cranial hyperostosis	2071	ERCC3	ORPHA:910
HP:0004437	Cranial hyperostosis	7508	XPC	ORPHA:910
HP:0004437	Cranial hyperostosis	1643	DDB2	ORPHA:910
HP:0004437	Cranial hyperostosis	2072	ERCC4	ORPHA:910
HP:0004437	Cranial hyperostosis	2073	ERCC5	ORPHA:910
HP:0004437	Cranial hyperostosis	207	AKT1	OMIM:176920
HP:0004437	Cranial hyperostosis	2697	GJA1	OMIM:218400
HP:0004437	Cranial hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0004437	Cranial hyperostosis	139285	AMER1	ORPHA:2780
HP:0004437	Cranial hyperostosis	23516	SLC39A14	OMIM:144755
HP:0004437	Cranial hyperostosis	50964	SOST	OMIM:269500
HP:0002699	Abnormal foramen magnum morphology	3187	HNRNPH1	OMIM:620083
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:187601
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:187600
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:616482
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:100800
HP:0002699	Abnormal foramen magnum morphology	3636	INPPL1	OMIM:258480
HP:0002699	Abnormal foramen magnum morphology	89970	RSPRY1	ORPHA:457395
HP:0002699	Abnormal foramen magnum morphology	55699	IARS2	OMIM:616007
HP:0002699	Abnormal foramen magnum morphology	2006	ELN	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	10516	FBLN5	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	5832	ALDH18A1	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	5832	ALDH18A1	OMIM:616603
HP:0002699	Abnormal foramen magnum morphology	1108	CHD4	OMIM:617159
HP:0002699	Abnormal foramen magnum morphology	3930	LBR	OMIM:618019
HP:0002699	Abnormal foramen magnum morphology	2317	FLNB	OMIM:272460
HP:0002699	Abnormal foramen magnum morphology	1387	CREBBP	OMIM:180849
HP:0002699	Abnormal foramen magnum morphology	2033	EP300	OMIM:180849
HP:0002699	Abnormal foramen magnum morphology	29899	GPSM2	OMIM:604213
HP:0002699	Abnormal foramen magnum morphology	2316	FLNA	OMIM:305620
HP:0002699	Abnormal foramen magnum morphology	860	RUNX2	OMIM:119600
HP:0002699	Abnormal foramen magnum morphology	51715	RAB23	OMIM:201000
HP:0009858	Triangular shaped proximal phalanges of the hand	8200	GDF5	OMIM:113100
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	9241	NOG	OMIM:186500
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	9241	NOG	OMIM:184460
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	8200	GDF5	OMIM:615298
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	727857	BHLHA9	OMIM:609432
HP:0025501	Class III obesity	54805	CNNM2	OMIM:616418
HP:0025502	Overweight	3767	KCNJ11	ORPHA:552
HP:0025502	Overweight	8462	KLF11	ORPHA:552
HP:0025502	Overweight	2645	GCK	ORPHA:552
HP:0025502	Overweight	26060	APPL1	ORPHA:552
HP:0025502	Overweight	640	BLK	ORPHA:552
HP:0025502	Overweight	640	BLK	OMIM:613375
HP:0025502	Overweight	1056	CEL	ORPHA:552
HP:0025502	Overweight	4760	NEUROD1	ORPHA:552
HP:0025502	Overweight	3651	PDX1	ORPHA:552
HP:0025502	Overweight	6833	ABCC8	ORPHA:552
HP:0025502	Overweight	5078	PAX4	ORPHA:552
HP:0025502	Overweight	3172	HNF4A	ORPHA:552
HP:0025502	Overweight	6927	HNF1A	ORPHA:552
HP:0025502	Overweight	3630	INS	ORPHA:552
HP:0025502	Overweight	84679	SLC9A7	OMIM:301024
HP:0025502	Overweight	10717	AP4B1	ORPHA:280763
HP:0025502	Overweight	10717	AP4B1	OMIM:614066
HP:0025502	Overweight	9179	AP4M1	ORPHA:280763
HP:0025502	Overweight	11154	AP4S1	ORPHA:280763
HP:0025502	Overweight	23431	AP4E1	ORPHA:280763
HP:0025502	Overweight	23431	AP4E1	OMIM:613744
HP:0025502	Overweight	57551	TAOK1	OMIM:619575
HP:0025502	Overweight	7874	USP7	ORPHA:500055
HP:0025502	Overweight	55870	ASH1L	OMIM:617796
HP:0025502	Overweight	57680	CHD8	OMIM:615032
HP:0025502	Overweight	146862	UNC45B	OMIM:619178
HP:0025502	Overweight	6711	SPTBN1	OMIM:619475
HP:0025502	Overweight	5626	PROP1	ORPHA:226307
HP:0025502	Overweight	89884	LHX4	ORPHA:226307
HP:0025502	Overweight	8022	LHX3	ORPHA:226307
HP:0025502	Overweight	5449	POU1F1	ORPHA:226307
HP:0025502	Overweight	8820	HESX1	ORPHA:226307
HP:0025502	Overweight	22859	ADGRL1	OMIM:620065
HP:0025502	Overweight	7201	TRHR	ORPHA:99832
HP:0025502	Overweight	37	ACADVL	ORPHA:26793
HP:0025502	Overweight	1513	CTSK	ORPHA:763
HP:0025502	Overweight	5244	ABCB4	ORPHA:69663
HP:0025502	Overweight	27086	FOXP1	ORPHA:391372
HP:0025502	Overweight	219854	TMEM218	OMIM:619562
HP:0025502	Overweight	3547	IGSF1	OMIM:300888
HP:0025502	Overweight	80208	SPG11	ORPHA:2822
HP:0025502	Overweight	23590	PDSS1	OMIM:614651
HP:0025502	Overweight	6304	SATB1	OMIM:619229
HP:0025502	Overweight	157657	CFAP418	OMIM:617406
HP:0025502	Overweight	57187	THOC2	ORPHA:457240
HP:0025502	Overweight	51341	ZBTB7A	OMIM:619769
HP:0025502	Overweight	9325	TRIP4	ORPHA:486815
HP:0025507	Yellow papule	2677	GGCX	OMIM:610842
HP:0025507	Yellow papule	368	ABCC6	OMIM:177850
HP:0025507	Yellow papule	368	ABCC6	OMIM:264800
HP:0025507	Yellow papule	64131	XYLT1	OMIM:264800
HP:0025507	Yellow papule	64132	XYLT2	OMIM:264800
HP:0025509	Piezogenic pedal papules	1277	COL1A1	ORPHA:287
HP:0025509	Piezogenic pedal papules	1289	COL5A1	ORPHA:287
HP:0025509	Piezogenic pedal papules	1290	COL5A2	ORPHA:287
HP:0025509	Piezogenic pedal papules	165	AEBP1	ORPHA:536532
HP:0009878	Cerebellar ataxia associated with quadrupedal gait	51761	ATP8A2	OMIM:615268
HP:0009878	Cerebellar ataxia associated with quadrupedal gait	7436	VLDLR	OMIM:224050
HP:0009878	Cerebellar ataxia associated with quadrupedal gait	767	CA8	OMIM:613227
HP:0009879	Simplified gyral pattern	23265	EXOC7	OMIM:619072
HP:0009879	Simplified gyral pattern	11113	CIT	OMIM:617090
HP:0009879	Simplified gyral pattern	84065	TMEM222	OMIM:619470
HP:0009879	Simplified gyral pattern	10128	LRPPRC	OMIM:220111
HP:0009879	Simplified gyral pattern	8450	CUL4B	OMIM:300354
HP:0009879	Simplified gyral pattern	1021	CDK6	OMIM:616080
HP:0009879	Simplified gyral pattern	23141	ANKLE2	OMIM:616681
HP:0009879	Simplified gyral pattern	10617	STAMBP	OMIM:614261
HP:0009879	Simplified gyral pattern	2290	FOXG1	OMIM:613454
HP:0009879	Simplified gyral pattern	8573	CASK	OMIM:300749
HP:0009879	Simplified gyral pattern	55627	SMPD4	OMIM:618622
HP:0009879	Simplified gyral pattern	116115	ZNF526	OMIM:619877
HP:0009879	Simplified gyral pattern	25914	RTTN	ORPHA:468631
HP:0009879	Simplified gyral pattern	8405	SPOP	OMIM:618828
HP:0009879	Simplified gyral pattern	1457	CSNK2A1	OMIM:617062
HP:0009879	Simplified gyral pattern	10733	PLK4	OMIM:616171
HP:0009879	Simplified gyral pattern	9276	COPB2	OMIM:619884
HP:0009879	Simplified gyral pattern	9276	COPB2	OMIM:617800
HP:0009879	Simplified gyral pattern	1062	CENPE	OMIM:616051
HP:0009879	Simplified gyral pattern	10300	KATNB1	OMIM:616212
HP:0009879	Simplified gyral pattern	51124	IER3IP1	OMIM:614231
HP:0009879	Simplified gyral pattern	5859	QARS1	OMIM:615760
HP:0009879	Simplified gyral pattern	22983	MAST1	OMIM:618273
HP:0009879	Simplified gyral pattern	10978	CLP1	ORPHA:411493
HP:0009879	Simplified gyral pattern	10978	CLP1	OMIM:615803
HP:0009879	Simplified gyral pattern	51741	WWOX	OMIM:616211
HP:0009879	Simplified gyral pattern	55755	CDK5RAP2	OMIM:604804
HP:0009879	Simplified gyral pattern	9442	MED27	OMIM:619286
HP:0009879	Simplified gyral pattern	91875	TTC5	OMIM:619244
HP:0009879	Simplified gyral pattern	84340	GFM2	OMIM:618397
HP:0009879	Simplified gyral pattern	387787	LIPT2	OMIM:617668
HP:0009879	Simplified gyral pattern	10293	TRAIP	OMIM:616777
HP:0009879	Simplified gyral pattern	7280	TUBB2A	OMIM:615763
HP:0009879	Simplified gyral pattern	5591	PRKDC	OMIM:615966
HP:0009879	Simplified gyral pattern	10381	TUBB3	OMIM:614039
HP:0009879	Simplified gyral pattern	10381	TUBB3	ORPHA:300570
HP:0009879	Simplified gyral pattern	51112	TRAPPC12	OMIM:617669
HP:0009879	Simplified gyral pattern	22995	CEP152	OMIM:613823
HP:0009879	Simplified gyral pattern	22995	CEP152	OMIM:614852
HP:0009879	Simplified gyral pattern	2067	ERCC1	OMIM:610758
HP:0009879	Simplified gyral pattern	79693	YRDC	OMIM:619609
HP:0009879	Simplified gyral pattern	284403	WDR62	OMIM:604317
HP:0009879	Simplified gyral pattern	259266	ASPM	OMIM:608716
HP:0009879	Simplified gyral pattern	4001	LMNB1	OMIM:619179
HP:0009879	Simplified gyral pattern	63925	ZNF335	OMIM:615095
HP:0009879	Simplified gyral pattern	63925	ZNF335	ORPHA:329228
HP:0009879	Simplified gyral pattern	7518	XRCC4	OMIM:616541
HP:0009879	Simplified gyral pattern	440	ASNS	OMIM:615574
HP:0009879	Simplified gyral pattern	6651	SON	ORPHA:500150
HP:0009879	Simplified gyral pattern	84823	LMNB2	OMIM:616540
HP:0009879	Simplified gyral pattern	84823	LMNB2	OMIM:619180
HP:0009879	Simplified gyral pattern	79147	FKRP	OMIM:613153
HP:0009879	Simplified gyral pattern	6597	SMARCA4	ORPHA:1465
HP:0009879	Simplified gyral pattern	6598	SMARCB1	ORPHA:1465
HP:0009879	Simplified gyral pattern	6659	SOX4	ORPHA:1465
HP:0009879	Simplified gyral pattern	8289	ARID1A	ORPHA:1465
HP:0009879	Simplified gyral pattern	5977	DPF2	ORPHA:1465
HP:0009879	Simplified gyral pattern	6601	SMARCC2	ORPHA:1465
HP:0009879	Simplified gyral pattern	6602	SMARCD1	ORPHA:1465
HP:0009879	Simplified gyral pattern	57492	ARID1B	ORPHA:1465
HP:0009879	Simplified gyral pattern	196528	ARID2	ORPHA:1465
HP:0009879	Simplified gyral pattern	6605	SMARCE1	ORPHA:1465
HP:0009879	Simplified gyral pattern	6664	SOX11	ORPHA:1465
HP:0009879	Simplified gyral pattern	7436	VLDLR	OMIM:224050
HP:0009879	Simplified gyral pattern	267010	RNU12	OMIM:620208
HP:0009879	Simplified gyral pattern	9928	KIF14	OMIM:617914
HP:0009879	Simplified gyral pattern	8777	MPDZ	OMIM:615219
HP:0009879	Simplified gyral pattern	80746	TSEN2	OMIM:612389
HP:0009879	Simplified gyral pattern	2744	GLS	OMIM:618328
HP:0009879	Simplified gyral pattern	10015	PDCD6IP	OMIM:620047
HP:0009879	Simplified gyral pattern	84081	NSRP1	OMIM:620001
HP:0009879	Simplified gyral pattern	6491	STIL	OMIM:612703
HP:0009879	Simplified gyral pattern	1781	DYNC1I2	OMIM:618492
HP:0009879	Simplified gyral pattern	29968	PSAT1	ORPHA:284417
HP:0009879	Simplified gyral pattern	51645	PPIL1	OMIM:619301
HP:0009879	Simplified gyral pattern	51362	CDC40	OMIM:619302
HP:0009879	Simplified gyral pattern	3832	KIF11	OMIM:152950
HP:0009879	Simplified gyral pattern	4700	NDUFA6	OMIM:618253
HP:0009879	Simplified gyral pattern	85378	TUBGCP6	OMIM:251270
HP:0009879	Simplified gyral pattern	54820	NDE1	OMIM:614019
HP:0009879	Simplified gyral pattern	11284	PNKP	OMIM:613402
HP:0009879	Simplified gyral pattern	51053	GMNN	OMIM:616835
HP:0009879	Simplified gyral pattern	29980	DONSON	OMIM:617604
HP:0009879	Simplified gyral pattern	29980	DONSON	OMIM:251230
HP:0009879	Simplified gyral pattern	8642	DCHS1	OMIM:601390
HP:0009879	Simplified gyral pattern	26005	C2CD3	OMIM:615948
HP:0009879	Simplified gyral pattern	55644	OSGEP	OMIM:617729
HP:0009879	Simplified gyral pattern	27245	AHDC1	OMIM:615829
HP:0025510	Nevus spilus	4893	NRAS	OMIM:137550
HP:0025510	Nevus spilus	3265	HRAS	OMIM:137550
HP:0025510	Nevus spilus	3265	HRAS	ORPHA:2874
HP:0025512	Skin-colored papule	488	ATP2A2	ORPHA:79151
HP:0025513	Scleral rupture	5351	PLOD1	ORPHA:1900
HP:0025514	Morning glory anomaly	10059	DNM1L	ORPHA:98673
HP:0025514	Morning glory anomaly	4976	OPA1	ORPHA:98673
HP:0025514	Morning glory anomaly	65062	TMEM237	OMIM:614424
HP:0025514	Morning glory anomaly	5080	PAX6	OMIM:165550
HP:0025514	Morning glory anomaly	5080	PAX6	OMIM:120200
HP:0025514	Morning glory anomaly	3166	HMX1	OMIM:612109
HP:0025514	Morning glory anomaly	5076	PAX2	OMIM:120330
HP:0025515	Delayed thelarche	80152	CENPT	OMIM:618702
HP:0025515	Delayed thelarche	93587	TRMT10A	OMIM:616033
HP:0025516	Coronary-pulmonary artery fistula	51434	ANAPC7	OMIM:619699
HP:0025517	Hypoplastic hippocampus	7846	TUBA1A	ORPHA:171680
HP:0025517	Hypoplastic hippocampus	4522	MTHFD1	OMIM:617780
HP:0025517	Hypoplastic hippocampus	10617	STAMBP	OMIM:614261
HP:0025517	Hypoplastic hippocampus	2009	EML1	OMIM:600348
HP:0025517	Hypoplastic hippocampus	79587	CARS2	ORPHA:477774
HP:0025517	Hypoplastic hippocampus	28962	OSTM1	ORPHA:85179
HP:0025517	Hypoplastic hippocampus	1182	CLCN3	OMIM:619517
HP:0025517	Hypoplastic hippocampus	478	ATP1A3	OMIM:619606
HP:0025517	Hypoplastic hippocampus	738	VPS51	OMIM:618606
HP:0025517	Hypoplastic hippocampus	23230	VPS13A	ORPHA:2388
HP:0025517	Hypoplastic hippocampus	7355	SLC35A2	ORPHA:356961
HP:0025517	Hypoplastic hippocampus	54820	NDE1	ORPHA:2177
HP:0025517	Hypoplastic hippocampus	6323	SCN1A	OMIM:619317
HP:0025517	Hypoplastic hippocampus	6925	TCF4	OMIM:610954
HP:0025517	Hypoplastic hippocampus	5457	POU4F1	ORPHA:314647
HP:0025517	Hypoplastic hippocampus	23261	CAMTA1	ORPHA:314647
HP:0025517	Hypoplastic hippocampus	2902	GRIN1	ORPHA:208447
HP:0009880	Broad distal phalanges of all fingers	9469	CHST3	OMIM:245600
HP:0009880	Broad distal phalanges of all fingers	26229	B3GAT3	OMIM:245600
HP:0009880	Broad distal phalanges of all fingers	55764	IFT122	OMIM:218330
HP:0009881	Aplasia of the distal phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009881	Aplasia of the distal phalanges of the hand	9896	FIG4	ORPHA:3472
HP:0009881	Aplasia of the distal phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009883	Duplication of the distal phalanx of hand	64327	LMBR1	OMIM:174500
HP:0009883	Duplication of the distal phalanx of hand	8200	GDF5	ORPHA:93384
HP:0009883	Duplication of the distal phalanx of hand	658	BMPR1B	ORPHA:93384
HP:0009883	Duplication of the distal phalanx of hand	55012	PPP2R3C	OMIM:618419
HP:0009883	Duplication of the distal phalanx of hand	374654	KIF7	OMIM:200990
HP:0009883	Duplication of the distal phalanx of hand	5053	PAH	ORPHA:2209
HP:0009883	Duplication of the distal phalanx of hand	124583	CANT1	OMIM:251450
HP:0009883	Duplication of the distal phalanx of hand	4920	ROR2	OMIM:268310
HP:0009883	Duplication of the distal phalanx of hand	7474	WNT5A	OMIM:180700
HP:0009883	Duplication of the distal phalanx of hand	1855	DVL1	OMIM:180700
HP:0009883	Duplication of the distal phalanx of hand	7291	TWIST1	OMIM:101400
HP:0009883	Duplication of the distal phalanx of hand	2263	FGFR2	OMIM:101400
HP:0009883	Duplication of the distal phalanx of hand	23592	LEMD3	ORPHA:1879
HP:0009886	Trichorrhexis nodosa	435	ASL	ORPHA:23
HP:0009886	Trichorrhexis nodosa	435	ASL	OMIM:207900
HP:0009886	Trichorrhexis nodosa	1185	CLCN6	OMIM:619173
HP:0009886	Trichorrhexis nodosa	16	AARS1	OMIM:619691
HP:0009886	Trichorrhexis nodosa	136647	MPLKIP	OMIM:234050
HP:0009886	Trichorrhexis nodosa	2068	ERCC2	OMIM:601675
HP:0009886	Trichorrhexis nodosa	404672	GTF2H5	OMIM:616395
HP:0009886	Trichorrhexis nodosa	147183	KRT25	OMIM:616760
HP:0009886	Trichorrhexis nodosa	9652	SKIC3	OMIM:222470
HP:0009886	Trichorrhexis nodosa	9652	SKIC3	ORPHA:84064
HP:0009886	Trichorrhexis nodosa	341208	HEPHL1	OMIM:261990
HP:0009886	Trichorrhexis nodosa	6499	SKIC2	ORPHA:84064
HP:0009886	Trichorrhexis nodosa	6499	SKIC2	OMIM:614602
HP:0009886	Trichorrhexis nodosa	126695	KDF1	OMIM:617337
HP:0009886	Trichorrhexis nodosa	2697	GJA1	ORPHA:1010
HP:0009886	Trichorrhexis nodosa	11005	SPINK5	ORPHA:634
HP:0009887	Abnormality of hair pigmentation	63915	BLOC1S5	OMIM:619172
HP:0009887	Abnormality of hair pigmentation	57724	EPG5	OMIM:242840
HP:0009887	Abnormality of hair pigmentation	7299	TYR	OMIM:606952
HP:0009887	Abnormality of hair pigmentation	7299	TYR	OMIM:203100
HP:0009887	Abnormality of hair pigmentation	7299	TYR	ORPHA:79431
HP:0009887	Abnormality of hair pigmentation	7299	TYR	ORPHA:79434
HP:0009887	Abnormality of hair pigmentation	8943	AP3D1	OMIM:617050
HP:0009887	Abnormality of hair pigmentation	83938	LRMDA	OMIM:615179
HP:0009887	Abnormality of hair pigmentation	11152	WDR45	OMIM:615179
HP:0009887	Abnormality of hair pigmentation	4948	OCA2	OMIM:203200
HP:0009887	Abnormality of hair pigmentation	4157	MC1R	OMIM:203200
HP:0009887	Abnormality of hair pigmentation	3257	HPS1	OMIM:203300
HP:0009887	Abnormality of hair pigmentation	51151	SLC45A2	OMIM:606574
HP:0009887	Abnormality of hair pigmentation	51151	SLC45A2	ORPHA:79435
HP:0009887	Abnormality of hair pigmentation	8546	AP3B1	OMIM:608233
HP:0009887	Abnormality of hair pigmentation	1910	EDNRB	OMIM:600501
HP:0009887	Abnormality of hair pigmentation	89781	HPS4	OMIM:614073
HP:0009887	Abnormality of hair pigmentation	11234	HPS5	OMIM:614074
HP:0009887	Abnormality of hair pigmentation	778	CACNA1F	OMIM:300600
HP:0009887	Abnormality of hair pigmentation	4286	MITF	OMIM:193510
HP:0009887	Abnormality of hair pigmentation	84343	HPS3	OMIM:614072
HP:0009887	Abnormality of hair pigmentation	7306	TYRP1	OMIM:203290
HP:0009887	Abnormality of hair pigmentation	388552	BLOC1S3	OMIM:614077
HP:0009887	Abnormality of hair pigmentation	79803	HPS6	OMIM:614075
HP:0009887	Abnormality of hair pigmentation	84062	DTNBP1	OMIM:614076
HP:0009887	Abnormality of hair pigmentation	7486	WRN	ORPHA:902
HP:0009887	Abnormality of hair pigmentation	5184	PEPD	ORPHA:742
HP:0009887	Abnormality of hair pigmentation	7020	TFAP2A	OMIM:113620
HP:0009887	Abnormality of hair pigmentation	4000	LMNA	ORPHA:79474
HP:0009887	Abnormality of hair pigmentation	7015	TERT	OMIM:613989
HP:0009887	Abnormality of hair pigmentation	83932	SPRTN	OMIM:616200
HP:0009887	Abnormality of hair pigmentation	1161	ERCC8	ORPHA:90324
HP:0009887	Abnormality of hair pigmentation	2074	ERCC6	ORPHA:90324
HP:0009887	Abnormality of hair pigmentation	9401	RECQL4	OMIM:268400
HP:0009887	Abnormality of hair pigmentation	79991	STN1	OMIM:617341
HP:0009887	Abnormality of hair pigmentation	6117	RPA1	OMIM:619767
HP:0009887	Abnormality of hair pigmentation	51085	MLXIPL	OMIM:194050
HP:0009887	Abnormality of hair pigmentation	2006	ELN	OMIM:194050
HP:0009887	Abnormality of hair pigmentation	4193	MDM2	OMIM:618681
HP:0009887	Abnormality of hair pigmentation	79184	BRCC3	ORPHA:280679
HP:0009887	Abnormality of hair pigmentation	3643	INSR	ORPHA:769
HP:0009887	Abnormality of hair pigmentation	4507	MTAP	OMIM:112250
HP:0009887	Abnormality of hair pigmentation	8884	SLC5A6	OMIM:619903
HP:0009887	Abnormality of hair pigmentation	5696	PSMB8	OMIM:256040
HP:0009887	Abnormality of hair pigmentation	23556	PIGN	ORPHA:280633
HP:0009887	Abnormality of hair pigmentation	197131	UBR1	OMIM:243800
HP:0009887	Abnormality of hair pigmentation	284058	KANSL1	ORPHA:363965
HP:0009887	Abnormality of hair pigmentation	284058	KANSL1	ORPHA:363958
HP:0009887	Abnormality of hair pigmentation	284058	KANSL1	OMIM:610443
HP:0009887	Abnormality of hair pigmentation	9742	IFT140	OMIM:266920
HP:0009887	Abnormality of hair pigmentation	26503	SLC17A5	OMIM:269920
HP:0009887	Abnormality of hair pigmentation	283652	SLC24A5	OMIM:113750
HP:0009887	Abnormality of hair pigmentation	6023	RMRP	OMIM:250250
HP:0009887	Abnormality of hair pigmentation	6901	TAFAZZIN	OMIM:302060
HP:0009887	Abnormality of hair pigmentation	7841	MOGS	ORPHA:79330
HP:0009887	Abnormality of hair pigmentation	8626	TP63	OMIM:103285
HP:0009887	Abnormality of hair pigmentation	8626	TP63	OMIM:604292
HP:0009887	Abnormality of hair pigmentation	20	ABCA2	OMIM:618808
HP:0009887	Abnormality of hair pigmentation	355	FAS	ORPHA:3437
HP:0009887	Abnormality of hair pigmentation	26191	PTPN22	ORPHA:3437
HP:0009887	Abnormality of hair pigmentation	54499	TMCO1	OMIM:213980
HP:0009887	Abnormality of hair pigmentation	5122	PCSK1	ORPHA:71528
HP:0009887	Abnormality of hair pigmentation	5573	PRKAR1A	ORPHA:280651
HP:0009887	Abnormality of hair pigmentation	5573	PRKAR1A	OMIM:160980
HP:0009887	Abnormality of hair pigmentation	5144	PDE4D	ORPHA:280651
HP:0009887	Abnormality of hair pigmentation	5144	PDE4D	OMIM:614613
HP:0009887	Abnormality of hair pigmentation	5443	POMC	OMIM:609734
HP:0009887	Abnormality of hair pigmentation	5443	POMC	ORPHA:71526
HP:0009887	Abnormality of hair pigmentation	84627	ZNF469	OMIM:229200
HP:0009887	Abnormality of hair pigmentation	25778	DSTYK	OMIM:270750
HP:0009887	Abnormality of hair pigmentation	1497	CTNS	OMIM:219800
HP:0009887	Abnormality of hair pigmentation	1186	CLCN7	OMIM:618541
HP:0009887	Abnormality of hair pigmentation	2261	FGFR3	ORPHA:53271
HP:0009887	Abnormality of hair pigmentation	7681	MKRN3	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	3653	IPW	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	ORPHA:98754
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	ORPHA:177904
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	ORPHA:177901
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	ORPHA:398069
HP:0009887	Abnormality of hair pigmentation	54551	MAGEL2	ORPHA:177910
HP:0009887	Abnormality of hair pigmentation	791114	PWRN1	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	100033413	SNORD116-1	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	8924	HERC2	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	145624	PWAR1	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	23742	NPAP1	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	338433	SNORD115-1	OMIM:176270
HP:0009887	Abnormality of hair pigmentation	10128	LRPPRC	ORPHA:70472
HP:0009887	Abnormality of hair pigmentation	10804	GJB6	ORPHA:189
HP:0009887	Abnormality of hair pigmentation	472	ATM	ORPHA:100
HP:0009887	Abnormality of hair pigmentation	4644	MYO5A	ORPHA:33445
HP:0009887	Abnormality of hair pigmentation	4644	MYO5A	ORPHA:79478
HP:0009887	Abnormality of hair pigmentation	374879	ZNF699	OMIM:619488
HP:0009887	Abnormality of hair pigmentation	1638	DCT	OMIM:619165
HP:0009887	Abnormality of hair pigmentation	6492	SIM1	ORPHA:398079
HP:0009887	Abnormality of hair pigmentation	1717	DHCR7	ORPHA:818
HP:0009887	Abnormality of hair pigmentation	1130	LYST	OMIM:214500
HP:0009887	Abnormality of hair pigmentation	1130	LYST	ORPHA:167
HP:0009887	Abnormality of hair pigmentation	5053	PAH	ORPHA:79254
HP:0009887	Abnormality of hair pigmentation	1908	EDN3	ORPHA:897
HP:0009887	Abnormality of hair pigmentation	6663	SOX10	ORPHA:897
HP:0009887	Abnormality of hair pigmentation	6663	SOX10	ORPHA:895
HP:0009887	Abnormality of hair pigmentation	6663	SOX10	ORPHA:163746
HP:0009887	Abnormality of hair pigmentation	6591	SNAI2	ORPHA:2884
HP:0009887	Abnormality of hair pigmentation	6591	SNAI2	ORPHA:895
HP:0009887	Abnormality of hair pigmentation	3815	KIT	ORPHA:2884
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:98754
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:177904
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:177901
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:177910
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:177907
HP:0009887	Abnormality of hair pigmentation	6638	SNRPN	ORPHA:411515
HP:0009887	Abnormality of hair pigmentation	4692	NDN	ORPHA:98754
HP:0009887	Abnormality of hair pigmentation	4692	NDN	ORPHA:177904
HP:0009887	Abnormality of hair pigmentation	4692	NDN	ORPHA:177901
HP:0009887	Abnormality of hair pigmentation	4692	NDN	ORPHA:177910
HP:0009887	Abnormality of hair pigmentation	7337	UBE3A	ORPHA:98794
HP:0009887	Abnormality of hair pigmentation	7337	UBE3A	ORPHA:98795
HP:0009887	Abnormality of hair pigmentation	7337	UBE3A	ORPHA:411511
HP:0009887	Abnormality of hair pigmentation	7337	UBE3A	ORPHA:411515
HP:0009887	Abnormality of hair pigmentation	4254	KITLG	ORPHA:895
HP:0009887	Abnormality of hair pigmentation	5077	PAX3	ORPHA:894
HP:0009887	Abnormality of hair pigmentation	112802	KRT71	ORPHA:170
HP:0009887	Abnormality of hair pigmentation	121391	KRT74	ORPHA:170
HP:0009887	Abnormality of hair pigmentation	200879	LIPH	ORPHA:170
HP:0009887	Abnormality of hair pigmentation	10161	LPAR6	ORPHA:170
HP:0009887	Abnormality of hair pigmentation	147183	KRT25	ORPHA:170
HP:0009887	Abnormality of hair pigmentation	28956	LAMTOR2	ORPHA:90023
HP:0009887	Abnormality of hair pigmentation	538	ATP7A	ORPHA:565
HP:0009887	Abnormality of hair pigmentation	9652	SKIC3	ORPHA:84064
HP:0009887	Abnormality of hair pigmentation	6499	SKIC2	ORPHA:84064
HP:0009887	Abnormality of hair pigmentation	57194	ATP10A	ORPHA:411515
HP:0009887	Abnormality of hair pigmentation	5873	RAB27A	ORPHA:79477
HP:0009887	Abnormality of hair pigmentation	79083	MLPH	ORPHA:79478
HP:0009887	Abnormality of hair pigmentation	2222	FDFT1	OMIM:618156
HP:0009887	Abnormality of hair pigmentation	11107	PRDM5	ORPHA:90354
HP:0009887	Abnormality of hair pigmentation	51750	RTEL1	ORPHA:3322
HP:0009887	Abnormality of hair pigmentation	65057	ACD	ORPHA:3322
HP:0009887	Abnormality of hair pigmentation	5073	PARN	ORPHA:3322
HP:0009887	Abnormality of hair pigmentation	26277	TINF2	ORPHA:3322
HP:0009887	Abnormality of hair pigmentation	1736	DKC1	ORPHA:3322
HP:0009887	Abnormality of hair pigmentation	79158	GNPTAB	ORPHA:576
HP:0009887	Abnormality of hair pigmentation	80169	CTC1	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	55651	NHP2	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	79650	USB1	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	55135	WRAP53	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	4869	NPM1	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	7012	TERC	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	55505	NOP10	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	7298	TYMS	ORPHA:1775
HP:0009887	Abnormality of hair pigmentation	51702	PADI3	ORPHA:1410
HP:0009887	Abnormality of hair pigmentation	7053	TGM3	ORPHA:1410
HP:0009887	Abnormality of hair pigmentation	3265	HRAS	ORPHA:79414
HP:0009887	Abnormality of hair pigmentation	57167	SALL4	ORPHA:233
HP:0009887	Abnormality of hair pigmentation	9935	MAFB	ORPHA:233
HP:0009887	Abnormality of hair pigmentation	1123	CHN1	ORPHA:233
HP:0009888	Abnormality of secondary sexual hair	8313	AXIN2	OMIM:608615
HP:0009888	Abnormality of secondary sexual hair	200879	LIPH	OMIM:604379
HP:0009888	Abnormality of secondary sexual hair	9508	ADAMTS3	ORPHA:2136
HP:0009888	Abnormality of secondary sexual hair	147372	CCBE1	ORPHA:2136
HP:0009888	Abnormality of secondary sexual hair	79633	FAT4	ORPHA:2136
HP:0009888	Abnormality of secondary sexual hair	1825	DSC3	OMIM:613102
HP:0009888	Abnormality of secondary sexual hair	10161	LPAR6	OMIM:278150
HP:0009888	Abnormality of secondary sexual hair	5696	PSMB8	OMIM:256040
HP:0009888	Abnormality of secondary sexual hair	10804	GJB6	ORPHA:189
HP:0009888	Abnormality of secondary sexual hair	10804	GJB6	OMIM:129500
HP:0009888	Abnormality of secondary sexual hair	26137	ZBTB20	OMIM:259050
HP:0009888	Abnormality of secondary sexual hair	4047	LSS	OMIM:618275
HP:0009888	Abnormality of secondary sexual hair	348	APOE	OMIM:269600
HP:0009888	Abnormality of secondary sexual hair	3691	ITGB4	OMIM:619816
HP:0009888	Abnormality of secondary sexual hair	55012	PPP2R3C	OMIM:618419
HP:0009888	Abnormality of secondary sexual hair	6635	SNRPE	OMIM:615059
HP:0009888	Abnormality of secondary sexual hair	79574	EPS8L3	OMIM:612841
HP:0009888	Abnormality of secondary sexual hair	2706	GJB2	OMIM:148210
HP:0009888	Abnormality of secondary sexual hair	55806	HR	OMIM:203655
HP:0009888	Abnormality of secondary sexual hair	367	AR	ORPHA:99429
HP:0009888	Abnormality of secondary sexual hair	1586	CYP17A1	ORPHA:90793
HP:0009888	Abnormality of secondary sexual hair	6926	TBX3	ORPHA:3138
HP:0009888	Abnormality of secondary sexual hair	668	FOXL2	OMIM:110100
HP:0009888	Abnormality of secondary sexual hair	147495	APCDD1	OMIM:605389
HP:0009888	Abnormality of secondary sexual hair	4193	MDM2	OMIM:618681
HP:0009888	Abnormality of secondary sexual hair	3122	HLA-DRA	ORPHA:505
HP:0009888	Abnormality of secondary sexual hair	8626	TP63	OMIM:604292
HP:0009888	Abnormality of secondary sexual hair	284252	KCTD1	OMIM:181270
HP:0009888	Abnormality of secondary sexual hair	3730	ANOS1	OMIM:308700
HP:0009888	Abnormality of secondary sexual hair	2488	FSHB	ORPHA:52901
HP:0009888	Abnormality of secondary sexual hair	3972	LHB	OMIM:228300
HP:0009888	Abnormality of secondary sexual hair	1528	CYB5A	ORPHA:90796
HP:0009888	Abnormality of secondary sexual hair	6144	RPL21	OMIM:615885
HP:0009888	Abnormality of secondary sexual hair	9723	SEMA3E	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	558	AXL	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	2798	GNRHR	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	2796	GNRH1	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	10011	SRA1	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	55717	WDR11	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	8822	FGF17	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	1848	DUSP6	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	81848	SPRY4	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	285025	CCDC141	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	389549	FEZF1	OMIM:146110
HP:0009888	Abnormality of secondary sexual hair	6662	SOX9	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	6845	VAMP7	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	51741	WWOX	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	4214	MAP3K1	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	7490	WT1	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	58524	DMRT3	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	57647	DHX37	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	6736	SRY	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	23414	ZFPM2	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	190	NR0B1	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	2626	GATA4	ORPHA:251510
HP:0009888	Abnormality of secondary sexual hair	23594	ORC6	OMIM:613803
HP:0009888	Abnormality of secondary sexual hair	1308	COL17A1	ORPHA:251393
HP:0009888	Abnormality of secondary sexual hair	29893	PSMC3IP	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	171568	POLR3H	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	2516	NR5A1	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	125150	ZSWIM7	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	9210	BMP15	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	57122	NUP107	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	23514	SPIDR	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	2492	FSHR	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	56945	MRPS22	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	646	BNC1	ORPHA:243
HP:0009888	Abnormality of secondary sexual hair	5626	PROP1	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	5626	PROP1	ORPHA:90695
HP:0009888	Abnormality of secondary sexual hair	2736	GLI2	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	89884	LHX4	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	3170	FOXA2	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	5449	POU1F1	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	8820	HESX1	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	5015	OTX2	ORPHA:95494
HP:0009888	Abnormality of secondary sexual hair	6658	SOX3	ORPHA:90695
HP:0009888	Abnormality of secondary sexual hair	2099	ESR1	ORPHA:785
HP:0009888	Abnormality of secondary sexual hair	1041	CDSN	ORPHA:90368
HP:0009888	Abnormality of secondary sexual hair	121391	KRT74	ORPHA:90368
HP:0009889	Localized hirsutism	57492	ARID1B	OMIM:135900
HP:0009889	Localized hirsutism	5184	PEPD	OMIM:170100
HP:0009889	Localized hirsutism	27125	AFF4	ORPHA:444077
HP:0009889	Localized hirsutism	54361	WNT4	ORPHA:247768
HP:0009889	Localized hirsutism	129285	PPP1R21	OMIM:619383
HP:0009889	Localized hirsutism	1371	CPOX	ORPHA:79273
HP:0009889	Localized hirsutism	6913	TBX15	OMIM:260660
HP:0009889	Localized hirsutism	2799	GNS	OMIM:252940
HP:0009889	Localized hirsutism	8626	TP63	OMIM:604292
HP:0009889	Localized hirsutism	55617	TASP1	OMIM:618950
HP:0009889	Localized hirsutism	54496	PRMT7	OMIM:617157
HP:0009889	Localized hirsutism	1387	CREBBP	OMIM:180849
HP:0009889	Localized hirsutism	2033	EP300	OMIM:180849
HP:0009889	Localized hirsutism	2316	FLNA	OMIM:309350
HP:0009889	Localized hirsutism	150468	CKAP2L	OMIM:272440
HP:0009889	Localized hirsutism	388015	RTL1	ORPHA:96334
HP:0009889	Localized hirsutism	8788	DLK1	ORPHA:96334
HP:0009889	Localized hirsutism	55384	MEG3	ORPHA:96334
HP:0009889	Localized hirsutism	8604	SLC25A12	OMIM:612949
HP:0009889	Localized hirsutism	6134	RPL10	OMIM:300998
HP:0009889	Localized hirsutism	23325	WASHC4	OMIM:615817
HP:0025520	Calcinosis cutis	5167	ENPP1	OMIM:615522
HP:0025520	Calcinosis cutis	189	AGXT	OMIM:259900
HP:0025520	Calcinosis cutis	3930	LBR	OMIM:613471
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	2294	FOXF1	OMIM:265380
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	9772	TMEM94	OMIM:618316
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	2316	FLNA	OMIM:314400
HP:0025524	Palmoplantar scaling skin	7051	TGM1	ORPHA:281127
HP:0025524	Palmoplantar scaling skin	7051	TGM1	ORPHA:100976
HP:0025524	Palmoplantar scaling skin	7286	TUFT1	OMIM:607655
HP:0025524	Palmoplantar scaling skin	3848	KRT1	ORPHA:530838
HP:0025525	Scaling skin on fingertip	4014	LORICRIN	ORPHA:79395
HP:0025526	Psoriasiform lesion	3575	IL7R	ORPHA:169154
HP:0025526	Psoriasiform lesion	3939	LDHA	ORPHA:284426
HP:0025526	Psoriasiform lesion	987	LRBA	OMIM:614700
HP:0025526	Psoriasiform lesion	146206	CARMIL2	OMIM:618131
HP:0025526	Psoriasiform lesion	23586	RIGI	OMIM:616298
HP:0025528	Annular cutaneous lesion	3939	LDHA	ORPHA:284426
HP:0025528	Annular cutaneous lesion	51371	POMP	OMIM:618048
HP:0009890	High anterior hairline	1947	EFNB1	OMIM:304110
HP:0009890	High anterior hairline	1947	EFNB1	ORPHA:1520
HP:0009890	High anterior hairline	8092	ALX1	ORPHA:306542
HP:0009890	High anterior hairline	55343	SLC35C1	OMIM:266265
HP:0009890	High anterior hairline	55027	HEATR3	OMIM:620072
HP:0009890	High anterior hairline	257	ALX3	OMIM:136760
HP:0009890	High anterior hairline	257	ALX3	ORPHA:391474
HP:0009890	High anterior hairline	4281	MID1	OMIM:300000
HP:0009890	High anterior hairline	4281	MID1	ORPHA:2745
HP:0009890	High anterior hairline	6857	SYT1	ORPHA:522077
HP:0009890	High anterior hairline	10220	GDF11	OMIM:619122
HP:0009890	High anterior hairline	473	RERE	OMIM:616975
HP:0009890	High anterior hairline	526	ATP6V1B2	OMIM:616455
HP:0009890	High anterior hairline	23384	SPECC1L	OMIM:145420
HP:0009890	High anterior hairline	23384	SPECC1L	ORPHA:1519
HP:0009890	High anterior hairline	22907	DHX30	OMIM:617804
HP:0009890	High anterior hairline	6304	SATB1	OMIM:619229
HP:0009890	High anterior hairline	4036	LRP2	ORPHA:2143
HP:0009890	High anterior hairline	7291	TWIST1	OMIM:617746
HP:0009890	High anterior hairline	10522	DEAF1	OMIM:615828
HP:0009890	High anterior hairline	2316	FLNA	OMIM:304120
HP:0009890	High anterior hairline	9653	HS2ST1	OMIM:619194
HP:0009890	High anterior hairline	1802	DPH2	OMIM:620062
HP:0009890	High anterior hairline	23394	ADNP	ORPHA:404448
HP:0009890	High anterior hairline	23394	ADNP	OMIM:615873
HP:0009890	High anterior hairline	23013	SPEN	OMIM:619312
HP:0009890	High anterior hairline	8367	H4C5	OMIM:619950
HP:0009890	High anterior hairline	104	ADARB1	OMIM:618862
HP:0009890	High anterior hairline	8812	CCNK	OMIM:618147
HP:0009890	High anterior hairline	1182	CLCN3	OMIM:619512
HP:0009890	High anterior hairline	6608	SMO	OMIM:601707
HP:0009890	High anterior hairline	4010	LMX1B	ORPHA:2614
HP:0009890	High anterior hairline	29926	GMPPA	OMIM:615510
HP:0009890	High anterior hairline	54361	WNT4	ORPHA:247768
HP:0009890	High anterior hairline	7360	UGP2	OMIM:618744
HP:0009890	High anterior hairline	3008	H1-4	OMIM:617537
HP:0009890	High anterior hairline	3703	STT3A	OMIM:619714
HP:0009890	High anterior hairline	5189	PEX1	ORPHA:3220
HP:0009890	High anterior hairline	5190	PEX6	ORPHA:3220
HP:0009890	High anterior hairline	10283	CWC27	OMIM:250410
HP:0009890	High anterior hairline	79718	TBL1XR1	OMIM:602342
HP:0009890	High anterior hairline	79718	TBL1XR1	ORPHA:487825
HP:0009890	High anterior hairline	79228	THOC6	ORPHA:363444
HP:0009890	High anterior hairline	79228	THOC6	OMIM:613680
HP:0009890	High anterior hairline	29998	BICRA	OMIM:619325
HP:0009890	High anterior hairline	253959	RALGAPA1	OMIM:618797
HP:0009890	High anterior hairline	10026	PIGK	OMIM:618879
HP:0009890	High anterior hairline	10525	HYOU1	OMIM:233600
HP:0009890	High anterior hairline	5500	PPP1CB	OMIM:617506
HP:0009890	High anterior hairline	999	CDH1	OMIM:119580
HP:0009890	High anterior hairline	3756	KCNH1	ORPHA:420561
HP:0009890	High anterior hairline	84679	SLC9A7	OMIM:301024
HP:0009890	High anterior hairline	64135	IFIH1	OMIM:182250
HP:0009890	High anterior hairline	10735	STAG2	OMIM:301022
HP:0009890	High anterior hairline	9968	MED12	OMIM:300895
HP:0009890	High anterior hairline	64324	NSD1	OMIM:117550
HP:0009890	High anterior hairline	55906	ZC4H2	OMIM:314580
HP:0009890	High anterior hairline	1748	DLX4	OMIM:616788
HP:0009890	High anterior hairline	25942	SIN3A	ORPHA:94065
HP:0009890	High anterior hairline	25942	SIN3A	OMIM:613406
HP:0009890	High anterior hairline	10815	CPLX1	ORPHA:280
HP:0009890	High anterior hairline	54872	PIGG	ORPHA:280
HP:0009890	High anterior hairline	7469	NELFA	ORPHA:280
HP:0009890	High anterior hairline	1487	CTBP1	ORPHA:280
HP:0009890	High anterior hairline	3954	LETM1	ORPHA:280
HP:0009890	High anterior hairline	7468	NSD2	ORPHA:280
HP:0009890	High anterior hairline	23028	KDM1A	ORPHA:477993
HP:0009890	High anterior hairline	4212	MEIS2	OMIM:600987
HP:0009890	High anterior hairline	5587	PRKD1	OMIM:617364
HP:0009890	High anterior hairline	29072	SETD2	OMIM:616831
HP:0009890	High anterior hairline	4858	NOVA2	OMIM:618859
HP:0009890	High anterior hairline	25871	NEPRO	OMIM:618853
HP:0009890	High anterior hairline	2245	FGD1	ORPHA:915
HP:0009890	High anterior hairline	2783	GNB2	OMIM:619503
HP:0009890	High anterior hairline	79633	FAT4	OMIM:615546
HP:0009890	High anterior hairline	26057	ANKRD17	OMIM:619504
HP:0009890	High anterior hairline	6654	SOS1	OMIM:610733
HP:0009890	High anterior hairline	3720	JARID2	OMIM:620098
HP:0009891	Underdeveloped supraorbital ridges	3981	LIG4	ORPHA:235
HP:0009891	Underdeveloped supraorbital ridges	54888	NSUN2	ORPHA:235
HP:0009891	Underdeveloped supraorbital ridges	29957	SLC25A24	ORPHA:2095
HP:0009891	Underdeveloped supraorbital ridges	29957	SLC25A24	OMIM:612289
HP:0009891	Underdeveloped supraorbital ridges	8216	LZTR1	OMIM:616564
HP:0009891	Underdeveloped supraorbital ridges	8216	LZTR1	OMIM:605275
HP:0009891	Underdeveloped supraorbital ridges	5648	MASP1	OMIM:257920
HP:0009891	Underdeveloped supraorbital ridges	673	BRAF	OMIM:115150
HP:0009891	Underdeveloped supraorbital ridges	673	BRAF	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	8405	SPOP	OMIM:618828
HP:0009891	Underdeveloped supraorbital ridges	157570	ESCO2	ORPHA:3103
HP:0009891	Underdeveloped supraorbital ridges	5293	PIK3CD	ORPHA:221139
HP:0009891	Underdeveloped supraorbital ridges	5293	PIK3CD	OMIM:613328
HP:0009891	Underdeveloped supraorbital ridges	90417	KNSTRN	ORPHA:221139
HP:0009891	Underdeveloped supraorbital ridges	90417	KNSTRN	OMIM:613328
HP:0009891	Underdeveloped supraorbital ridges	4758	NEU1	ORPHA:93399
HP:0009891	Underdeveloped supraorbital ridges	4758	NEU1	ORPHA:93400
HP:0009891	Underdeveloped supraorbital ridges	2702	GJA5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	1482	NKX2-5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	137814	NKX2-6	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	23414	ZFPM2	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2626	GATA4	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	3791	KDR	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2627	GATA6	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2657	GDF1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	182	JAG1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	6899	TBX1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	140628	GATA5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2324	FLT4	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	10370	CITED2	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	5727	PTCH1	OMIM:610828
HP:0009891	Underdeveloped supraorbital ridges	51715	RAB23	OMIM:201000
HP:0009891	Underdeveloped supraorbital ridges	3832	KIF11	ORPHA:2526
HP:0009891	Underdeveloped supraorbital ridges	2263	FGFR2	OMIM:123790
HP:0009891	Underdeveloped supraorbital ridges	2263	FGFR2	ORPHA:1540
HP:0009891	Underdeveloped supraorbital ridges	8241	RBM10	ORPHA:2886
HP:0009891	Underdeveloped supraorbital ridges	8241	RBM10	OMIM:311900
HP:0009891	Underdeveloped supraorbital ridges	23387	SIK3	OMIM:618162
HP:0009891	Underdeveloped supraorbital ridges	3039	HBA1	ORPHA:98791
HP:0009891	Underdeveloped supraorbital ridges	3040	HBA2	ORPHA:98791
HP:0009891	Underdeveloped supraorbital ridges	54496	PRMT7	OMIM:617157
HP:0009891	Underdeveloped supraorbital ridges	9652	SKIC3	OMIM:222470
HP:0009891	Underdeveloped supraorbital ridges	5604	MAP2K1	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	5605	MAP2K2	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	3845	KRAS	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	129285	PPP1R21	OMIM:619383
HP:0009891	Underdeveloped supraorbital ridges	83696	TRAPPC9	ORPHA:352530
HP:0009891	Underdeveloped supraorbital ridges	1954	MEGF8	OMIM:614976
HP:0009891	Underdeveloped supraorbital ridges	4654	MYOD1	OMIM:618975
HP:0009891	Underdeveloped supraorbital ridges	84168	ANTXR1	ORPHA:2067
HP:0009891	Underdeveloped supraorbital ridges	6664	SOX11	OMIM:615866
HP:0009891	Underdeveloped supraorbital ridges	55670	PEX26	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5824	PEX19	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5828	PEX2	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	8504	PEX3	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	8799	PEX11B	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	9409	PEX16	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5190	PEX6	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5830	PEX5	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5189	PEX1	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5193	PEX12	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5194	PEX13	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5195	PEX14	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5192	PEX10	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	2690	GHR	ORPHA:633
HP:0009891	Underdeveloped supraorbital ridges	7291	TWIST1	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	2261	FGFR3	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	6938	TCF12	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	7545	ZIC1	ORPHA:35099
HP:0009892	Anotia	3199	HOXA2	ORPHA:83463
HP:0009892	Anotia	55120	FANCL	OMIM:614083
HP:0009892	Anotia	25885	POLR1A	OMIM:616462
HP:0009892	Anotia	10992	SF3B2	OMIM:164210
HP:0009892	Anotia	81620	CDT1	ORPHA:2554
HP:0009892	Anotia	5000	ORC4	ORPHA:2554
HP:0009892	Anotia	23594	ORC6	ORPHA:2554
HP:0009892	Anotia	8318	CDC45	ORPHA:2554
HP:0009892	Anotia	990	CDC6	ORPHA:2554
HP:0009892	Anotia	4998	ORC1	ORPHA:2554
HP:0009892	Anotia	51053	GMNN	ORPHA:2554
HP:0009892	Anotia	51082	POLR1D	OMIM:613717
HP:0009892	Anotia	2187	FANCB	ORPHA:3412
HP:0009894	Thickened ears	5727	PTCH1	ORPHA:77301
HP:0009894	Thickened ears	27125	AFF4	ORPHA:444077
HP:0009894	Thickened ears	7840	ALMS1	ORPHA:64
HP:0009894	Thickened ears	526	ATP6V1B2	ORPHA:3473
HP:0009894	Thickened ears	3756	KCNH1	ORPHA:3473
HP:0009894	Thickened ears	3782	KCNN3	ORPHA:3473
HP:0009894	Thickened ears	6872	TAF1	OMIM:300966
HP:0009894	Thickened ears	3767	KCNJ11	ORPHA:79134
HP:0009894	Thickened ears	79731	NARS2	ORPHA:79134
HP:0009894	Thickened ears	6833	ABCC8	ORPHA:79134
HP:0009894	Thickened ears	84992	PIGY	OMIM:616809
HP:0009895	Abnormality of the crus of the helix	1906	EDN1	ORPHA:137888
HP:0009895	Abnormality of the crus of the helix	5332	PLCB4	ORPHA:137888
HP:0009895	Abnormality of the crus of the helix	2773	GNAI3	ORPHA:137888
HP:0009895	Abnormality of the crus of the helix	58499	ZNF462	OMIM:618619
HP:0009895	Abnormality of the crus of the helix	7291	TWIST1	ORPHA:794
HP:0009895	Abnormality of the crus of the helix	7291	TWIST1	OMIM:101400
HP:0009895	Abnormality of the crus of the helix	2263	FGFR2	ORPHA:794
HP:0009895	Abnormality of the crus of the helix	2263	FGFR2	OMIM:101400
HP:0009895	Abnormality of the crus of the helix	2261	FGFR3	ORPHA:794
HP:0009895	Abnormality of the crus of the helix	63932	STEEP1	OMIM:301013
HP:0009895	Abnormality of the crus of the helix	9653	HS2ST1	OMIM:619194
HP:0009895	Abnormality of the crus of the helix	22907	DHX30	OMIM:617804
HP:0009895	Abnormality of the crus of the helix	7468	NSD2	OMIM:619695
HP:0009895	Abnormality of the crus of the helix	26123	TCTN3	ORPHA:2753
HP:0009896	Abnormal antitragus morphology	10026	PIGK	OMIM:618879
HP:0009896	Abnormal antitragus morphology	283209	PGM2L1	OMIM:620191
HP:0009896	Abnormal antitragus morphology	9469	CHST3	OMIM:245600
HP:0009896	Abnormal antitragus morphology	26229	B3GAT3	OMIM:245600
HP:0009896	Abnormal antitragus morphology	7994	KAT6A	OMIM:616268
HP:0009896	Abnormal antitragus morphology	25782	RAB3GAP2	OMIM:212720
HP:0009896	Abnormal antitragus morphology	2335	FN1	ORPHA:93315
HP:0009896	Abnormal antitragus morphology	1280	COL2A1	ORPHA:93315
HP:0009896	Abnormal antitragus morphology	10908	PNPLA6	ORPHA:2377
HP:0009896	Abnormal antitragus morphology	284252	KCTD1	OMIM:181270
HP:0009896	Abnormal antitragus morphology	284252	KCTD1	ORPHA:2036
HP:0009897	Horizontal crus of helix	58499	ZNF462	OMIM:618619
HP:0009899	Prominent crus of helix	7291	TWIST1	ORPHA:794
HP:0009899	Prominent crus of helix	7291	TWIST1	OMIM:101400
HP:0009899	Prominent crus of helix	2263	FGFR2	ORPHA:794
HP:0009899	Prominent crus of helix	2263	FGFR2	OMIM:101400
HP:0009899	Prominent crus of helix	2261	FGFR3	ORPHA:794
HP:0009899	Prominent crus of helix	63932	STEEP1	OMIM:301013
HP:0009899	Prominent crus of helix	9653	HS2ST1	OMIM:619194
HP:0009899	Prominent crus of helix	22907	DHX30	OMIM:617804
HP:0009899	Prominent crus of helix	7468	NSD2	OMIM:619695
HP:0025533	Peau d'orange	57511	COG6	OMIM:614576
HP:0025533	Peau d'orange	368	ABCC6	OMIM:177850
HP:0025533	Peau d'orange	3815	KIT	ORPHA:79455
HP:0025534	Ocular melanocytosis	1798	DPAGT1	ORPHA:86309
HP:0025539	Abnormal B cell subset distribution	1503	CTPS1	OMIM:615897
HP:0025539	Abnormal B cell subset distribution	5580	PRKCD	OMIM:615559
HP:0025539	Abnormal B cell subset distribution	2000	ELF4	OMIM:301074
HP:0025539	Abnormal B cell subset distribution	3551	IKBKB	OMIM:618204
HP:0025539	Abnormal B cell subset distribution	9138	ARHGEF1	OMIM:618459
HP:0025539	Abnormal B cell subset distribution	10043	TOM1	OMIM:619510
HP:0025539	Abnormal B cell subset distribution	51371	POMP	OMIM:618048
HP:0025539	Abnormal B cell subset distribution	3431	SP110	ORPHA:79124
HP:0025539	Abnormal B cell subset distribution	60468	BACH2	OMIM:618394
HP:0025539	Abnormal B cell subset distribution	5295	PIK3R1	OMIM:616005
HP:0025539	Abnormal B cell subset distribution	5293	PIK3CD	OMIM:615513
HP:0025539	Abnormal B cell subset distribution	8651	SOCS1	OMIM:619375
HP:0025539	Abnormal B cell subset distribution	5966	REL	OMIM:619652
HP:0025539	Abnormal B cell subset distribution	54790	TET2	OMIM:619126
HP:0025539	Abnormal B cell subset distribution	930	CD19	OMIM:613493
HP:0025539	Abnormal B cell subset distribution	3937	LCP2	OMIM:619374
HP:0025539	Abnormal B cell subset distribution	10525	HYOU1	OMIM:233600
HP:0025539	Abnormal B cell subset distribution	96459	FNIP1	OMIM:619705
HP:0025539	Abnormal B cell subset distribution	359948	IRF2BP2	OMIM:617765
HP:0025539	Abnormal B cell subset distribution	5336	PLCG2	OMIM:614878
HP:0025539	Abnormal B cell subset distribution	3570	IL6R	OMIM:618944
HP:0025539	Abnormal B cell subset distribution	987	LRBA	OMIM:614700
HP:0025539	Abnormal B cell subset distribution	59067	IL21	OMIM:615767
HP:0025539	Abnormal B cell subset distribution	56259	CTNNBL1	OMIM:619846
HP:0025539	Abnormal B cell subset distribution	29851	ICOS	OMIM:607594
HP:0025539	Abnormal B cell subset distribution	10125	RASGRP1	OMIM:618534
HP:0005100	Premature birth following premature rupture of fetal membranes	1289	COL5A1	OMIM:130000
HP:0005101	High-frequency hearing impairment	4627	MYH9	OMIM:603622
HP:0005101	High-frequency hearing impairment	23676	SMPX	OMIM:300066
HP:0005101	High-frequency hearing impairment	4009	LMX1A	OMIM:601412
HP:0005101	High-frequency hearing impairment	2707	GJB3	OMIM:612644
HP:0005101	High-frequency hearing impairment	1834	DSPP	OMIM:605594
HP:0005101	High-frequency hearing impairment	8905	AP1S2	OMIM:304340
HP:0005101	High-frequency hearing impairment	6103	RPGR	OMIM:300455
HP:0005101	High-frequency hearing impairment	5442	POLRMT	OMIM:619743
HP:0005102	Cochlear degeneration	1690	COCH	OMIM:601369
HP:0005102	Cochlear degeneration	5190	PEX6	ORPHA:95433
HP:0005103	Calcification of the auricular cartilage	26137	ZBTB20	OMIM:259050
HP:0005103	Calcification of the auricular cartilage	26137	ZBTB20	ORPHA:3042
HP:0005103	Calcification of the auricular cartilage	4256	MGP	OMIM:245150
HP:0005103	Calcification of the auricular cartilage	5167	ENPP1	ORPHA:51608
HP:0005103	Calcification of the auricular cartilage	368	ABCC6	ORPHA:51608
HP:0005104	Hypoplastic nasal septum	5727	PTCH1	OMIM:610828
HP:0005104	Hypoplastic nasal septum	9241	NOG	OMIM:186500
HP:0005104	Hypoplastic nasal septum	2317	FLNB	OMIM:112310
HP:0005105	Abnormal nasal morphology	11113	CIT	OMIM:617090
HP:0005105	Abnormal nasal morphology	7528	YY1	ORPHA:506358
HP:0005105	Abnormal nasal morphology	27316	RBMX	OMIM:300238
HP:0005105	Abnormal nasal morphology	83932	SPRTN	OMIM:616200
HP:0005105	Abnormal nasal morphology	26128	KIFBP	OMIM:609460
HP:0005105	Abnormal nasal morphology	55627	SMPD4	OMIM:618622
HP:0005105	Abnormal nasal morphology	8854	ALDH1A2	OMIM:620025
HP:0005105	Abnormal nasal morphology	10084	PQBP1	ORPHA:93945
HP:0005105	Abnormal nasal morphology	10084	PQBP1	ORPHA:93946
HP:0005105	Abnormal nasal morphology	10084	PQBP1	OMIM:309500
HP:0005105	Abnormal nasal morphology	55690	PACS1	OMIM:615009
HP:0005105	Abnormal nasal morphology	55690	PACS1	ORPHA:329224
HP:0005105	Abnormal nasal morphology	23431	AP4E1	OMIM:613744
HP:0005105	Abnormal nasal morphology	23431	AP4E1	ORPHA:280763
HP:0005105	Abnormal nasal morphology	284403	WDR62	OMIM:604317
HP:0005105	Abnormal nasal morphology	284098	PIGW	ORPHA:247262
HP:0005105	Abnormal nasal morphology	9487	PIGL	ORPHA:247262
HP:0005105	Abnormal nasal morphology	3899	AFF3	OMIM:619297
HP:0005105	Abnormal nasal morphology	23184	MESD	OMIM:618644
HP:0005105	Abnormal nasal morphology	55681	SCYL2	OMIM:618766
HP:0005105	Abnormal nasal morphology	1193	CLIC2	ORPHA:324410
HP:0005105	Abnormal nasal morphology	10717	AP4B1	OMIM:614066
HP:0005105	Abnormal nasal morphology	10717	AP4B1	ORPHA:280763
HP:0005105	Abnormal nasal morphology	55773	TBC1D23	OMIM:617695
HP:0005105	Abnormal nasal morphology	6660	SOX5	OMIM:616803
HP:0005105	Abnormal nasal morphology	79753	SNIP1	OMIM:614501
HP:0005105	Abnormal nasal morphology	55343	SLC35C1	OMIM:266265
HP:0005105	Abnormal nasal morphology	9993	DGCR2	OMIM:192430
HP:0005105	Abnormal nasal morphology	8220	ESS2	OMIM:192430
HP:0005105	Abnormal nasal morphology	8214	DGCR6	OMIM:192430
HP:0005105	Abnormal nasal morphology	54487	DGCR8	OMIM:192430
HP:0005105	Abnormal nasal morphology	10195	ALG3	OMIM:601110
HP:0005105	Abnormal nasal morphology	81570	CLPB	OMIM:616271
HP:0005105	Abnormal nasal morphology	8621	CDK13	OMIM:617360
HP:0005105	Abnormal nasal morphology	1523	CUX1	OMIM:618330
HP:0005105	Abnormal nasal morphology	3720	JARID2	OMIM:620098
HP:0005105	Abnormal nasal morphology	10765	KDM5B	OMIM:618109
HP:0005105	Abnormal nasal morphology	51412	ACTL6B	OMIM:618470
HP:0005105	Abnormal nasal morphology	1436	CSF1R	OMIM:618476
HP:0005105	Abnormal nasal morphology	4953	ODC1	ORPHA:544488
HP:0005105	Abnormal nasal morphology	998	CDC42	OMIM:616737
HP:0005105	Abnormal nasal morphology	998	CDC42	ORPHA:487796
HP:0005105	Abnormal nasal morphology	3759	KCNJ2	OMIM:170390
HP:0005105	Abnormal nasal morphology	3759	KCNJ2	ORPHA:37553
HP:0005105	Abnormal nasal morphology	1312	COMT	ORPHA:567
HP:0005105	Abnormal nasal morphology	221037	JMJD1C	ORPHA:567
HP:0005105	Abnormal nasal morphology	2812	GP1BB	ORPHA:567
HP:0005105	Abnormal nasal morphology	6239	RREB1	ORPHA:567
HP:0005105	Abnormal nasal morphology	7290	HIRA	ORPHA:567
HP:0005105	Abnormal nasal morphology	9632	SEC24C	ORPHA:567
HP:0005105	Abnormal nasal morphology	7353	UFD1	ORPHA:567
HP:0005105	Abnormal nasal morphology	421	ARVCF	ORPHA:567
HP:0005105	Abnormal nasal morphology	10524	KAT5	OMIM:619103
HP:0005105	Abnormal nasal morphology	9757	KMT2B	OMIM:617284
HP:0005105	Abnormal nasal morphology	9757	KMT2B	ORPHA:589618
HP:0005105	Abnormal nasal morphology	9757	KMT2B	OMIM:619934
HP:0005105	Abnormal nasal morphology	22808	MRAS	OMIM:618499
HP:0005105	Abnormal nasal morphology	79644	SRD5A3	OMIM:612713
HP:0005105	Abnormal nasal morphology	57572	DOCK6	OMIM:614219
HP:0005105	Abnormal nasal morphology	57003	CCDC47	OMIM:618268
HP:0005105	Abnormal nasal morphology	26005	C2CD3	ORPHA:434179
HP:0005105	Abnormal nasal morphology	80781	COL18A1	OMIM:267750
HP:0005105	Abnormal nasal morphology	50485	SMARCAL1	OMIM:242900
HP:0005105	Abnormal nasal morphology	118924	FRA10AC1	OMIM:620113
HP:0005105	Abnormal nasal morphology	1376	CPT2	OMIM:608836
HP:0005105	Abnormal nasal morphology	80267	EDEM3	OMIM:619493
HP:0005105	Abnormal nasal morphology	2332	FMR1	ORPHA:261483
HP:0005105	Abnormal nasal morphology	1984	EIF5A	OMIM:619376
HP:0005105	Abnormal nasal morphology	1748	DLX4	OMIM:616788
HP:0005105	Abnormal nasal morphology	84700	MYO18B	OMIM:616549
HP:0005105	Abnormal nasal morphology	8777	MPDZ	OMIM:615219
HP:0005105	Abnormal nasal morphology	84464	SLX4	OMIM:613951
HP:0005105	Abnormal nasal morphology	10844	TUBGCP2	OMIM:618737
HP:0005105	Abnormal nasal morphology	3762	KCNJ5	ORPHA:37553
HP:0005105	Abnormal nasal morphology	3187	HNRNPH1	OMIM:620083
HP:0005105	Abnormal nasal morphology	10651	MTX2	OMIM:619127
HP:0005105	Abnormal nasal morphology	1182	CLCN3	OMIM:619512
HP:0005105	Abnormal nasal morphology	54914	FOCAD	OMIM:619991
HP:0005105	Abnormal nasal morphology	5831	PYCR1	OMIM:612940
HP:0005105	Abnormal nasal morphology	5831	PYCR1	OMIM:614438
HP:0005105	Abnormal nasal morphology	5832	ALDH18A1	OMIM:219150
HP:0005105	Abnormal nasal morphology	7020	TFAP2A	OMIM:113620
HP:0005105	Abnormal nasal morphology	3476	IGBP1	OMIM:300472
HP:0005105	Abnormal nasal morphology	3476	IGBP1	ORPHA:52055
HP:0005105	Abnormal nasal morphology	25970	SH2B1	ORPHA:261222
HP:0005105	Abnormal nasal morphology	10274	STAG1	ORPHA:502434
HP:0005105	Abnormal nasal morphology	10274	STAG1	OMIM:617635
HP:0005105	Abnormal nasal morphology	2590	GALNT2	OMIM:618885
HP:0005105	Abnormal nasal morphology	1327	COX4I1	OMIM:619060
HP:0005105	Abnormal nasal morphology	22884	WDR37	OMIM:618652
HP:0005105	Abnormal nasal morphology	200734	SPRED2	OMIM:619745
HP:0005105	Abnormal nasal morphology	92482	BBIP1	ORPHA:110
HP:0005105	Abnormal nasal morphology	11020	IFT27	ORPHA:110
HP:0005105	Abnormal nasal morphology	51057	WDPCP	ORPHA:110
HP:0005105	Abnormal nasal morphology	27241	BBS9	ORPHA:110
HP:0005105	Abnormal nasal morphology	84984	CEP19	ORPHA:110
HP:0005105	Abnormal nasal morphology	22954	TRIM32	ORPHA:110
HP:0005105	Abnormal nasal morphology	79738	BBS10	ORPHA:110
HP:0005105	Abnormal nasal morphology	585	BBS4	ORPHA:110
HP:0005105	Abnormal nasal morphology	8195	MKKS	ORPHA:110
HP:0005105	Abnormal nasal morphology	54585	LZTFL1	ORPHA:110
HP:0005105	Abnormal nasal morphology	166379	BBS12	ORPHA:110
HP:0005105	Abnormal nasal morphology	10806	SDCCAG8	ORPHA:110
HP:0005105	Abnormal nasal morphology	129880	BBS5	ORPHA:110
HP:0005105	Abnormal nasal morphology	65109	UPF3B	OMIM:300676
HP:0005105	Abnormal nasal morphology	65109	UPF3B	ORPHA:776
HP:0005105	Abnormal nasal morphology	116115	ZNF526	OMIM:619877
HP:0005105	Abnormal nasal morphology	4089	SMAD4	OMIM:139210
HP:0005105	Abnormal nasal morphology	8242	KDM5C	OMIM:300534
HP:0005105	Abnormal nasal morphology	8242	KDM5C	ORPHA:85279
HP:0005105	Abnormal nasal morphology	8925	HERC1	OMIM:617011
HP:0005105	Abnormal nasal morphology	8925	HERC1	ORPHA:457359
HP:0005105	Abnormal nasal morphology	2334	AFF2	ORPHA:100973
HP:0005105	Abnormal nasal morphology	2334	AFF2	OMIM:309548
HP:0005105	Abnormal nasal morphology	51114	ZDHHC9	ORPHA:776
HP:0005105	Abnormal nasal morphology	1725	DHPS	OMIM:618480
HP:0005105	Abnormal nasal morphology	63925	ZNF335	OMIM:615095
HP:0005105	Abnormal nasal morphology	91647	ATPAF2	OMIM:604273
HP:0005105	Abnormal nasal morphology	23594	ORC6	OMIM:613803
HP:0005105	Abnormal nasal morphology	57038	RARS2	OMIM:611523
HP:0005105	Abnormal nasal morphology	375056	MIA3	OMIM:619269
HP:0005105	Abnormal nasal morphology	55217	TMLHE	OMIM:300872
HP:0005105	Abnormal nasal morphology	613	BCR	ORPHA:261330
HP:0005105	Abnormal nasal morphology	1399	CRKL	ORPHA:261330
HP:0005105	Abnormal nasal morphology	4598	MVK	OMIM:610377
HP:0005105	Abnormal nasal morphology	5000	ORC4	OMIM:613800
HP:0005105	Abnormal nasal morphology	8425	LTBP4	OMIM:613177
HP:0005105	Abnormal nasal morphology	3703	STT3A	OMIM:619714
HP:0005105	Abnormal nasal morphology	64220	STRA6	OMIM:601186
HP:0005105	Abnormal nasal morphology	318	NUDT2	OMIM:619844
HP:0005105	Abnormal nasal morphology	83696	TRAPPC9	OMIM:613192
HP:0005105	Abnormal nasal morphology	83696	TRAPPC9	ORPHA:352530
HP:0005105	Abnormal nasal morphology	54453	RIN2	OMIM:613075
HP:0005105	Abnormal nasal morphology	51319	RSRC1	OMIM:618402
HP:0005105	Abnormal nasal morphology	8726	EED	OMIM:617561
HP:0005105	Abnormal nasal morphology	7469	NELFA	ORPHA:280
HP:0005105	Abnormal nasal morphology	1501	CTNND2	ORPHA:281
HP:0005105	Abnormal nasal morphology	9037	SEMA5A	ORPHA:281
HP:0005105	Abnormal nasal morphology	8642	DCHS1	OMIM:601390
HP:0005105	Abnormal nasal morphology	8642	DCHS1	ORPHA:314679
HP:0005105	Abnormal nasal morphology	11285	B4GALT7	OMIM:130070
HP:0005105	Abnormal nasal morphology	11285	B4GALT7	ORPHA:75496
HP:0005105	Abnormal nasal morphology	55621	TRMT1	OMIM:618302
HP:0005105	Abnormal nasal morphology	7862	BRPF1	OMIM:617333
HP:0005105	Abnormal nasal morphology	5593	PRKG2	OMIM:619636
HP:0005105	Abnormal nasal morphology	85365	ALG2	ORPHA:79326
HP:0005105	Abnormal nasal morphology	85365	ALG2	OMIM:607906
HP:0005105	Abnormal nasal morphology	54828	BCAS3	OMIM:619641
HP:0005105	Abnormal nasal morphology	4286	MITF	OMIM:193510
HP:0005105	Abnormal nasal morphology	4286	MITF	ORPHA:897
HP:0005105	Abnormal nasal morphology	79633	FAT4	ORPHA:314679
HP:0005105	Abnormal nasal morphology	79633	FAT4	ORPHA:2136
HP:0005105	Abnormal nasal morphology	79633	FAT4	OMIM:615546
HP:0005105	Abnormal nasal morphology	2683	B4GALT1	ORPHA:79332
HP:0005105	Abnormal nasal morphology	8643	PTCH2	ORPHA:377
HP:0005105	Abnormal nasal morphology	8565	YARS1	OMIM:619418
HP:0005105	Abnormal nasal morphology	374969	SVBP	OMIM:618569
HP:0005105	Abnormal nasal morphology	6135	RPL11	ORPHA:124
HP:0005105	Abnormal nasal morphology	6138	RPL15	ORPHA:124
HP:0005105	Abnormal nasal morphology	6229	RPS24	ORPHA:124
HP:0005105	Abnormal nasal morphology	6125	RPL5	ORPHA:124
HP:0005105	Abnormal nasal morphology	6204	RPS10	ORPHA:124
HP:0005105	Abnormal nasal morphology	6224	RPS20	ORPHA:124
HP:0005105	Abnormal nasal morphology	6165	RPL35A	ORPHA:124
HP:0005105	Abnormal nasal morphology	2623	GATA1	ORPHA:124
HP:0005105	Abnormal nasal morphology	6232	RPS27	ORPHA:124
HP:0005105	Abnormal nasal morphology	6231	RPS26	ORPHA:124
HP:0005105	Abnormal nasal morphology	11224	RPL35	ORPHA:124
HP:0005105	Abnormal nasal morphology	6160	RPL31	ORPHA:124
HP:0005105	Abnormal nasal morphology	6218	RPS17	ORPHA:124
HP:0005105	Abnormal nasal morphology	6155	RPL27	ORPHA:124
HP:0005105	Abnormal nasal morphology	6154	RPL26	ORPHA:124
HP:0005105	Abnormal nasal morphology	6210	RPS15A	ORPHA:124
HP:0005105	Abnormal nasal morphology	90121	TSR2	ORPHA:124
HP:0005105	Abnormal nasal morphology	6141	RPL18	ORPHA:124
HP:0005105	Abnormal nasal morphology	6235	RPS29	ORPHA:124
HP:0005105	Abnormal nasal morphology	6234	RPS28	ORPHA:124
HP:0005105	Abnormal nasal morphology	51816	ADA2	ORPHA:124
HP:0005105	Abnormal nasal morphology	6473	SHOX	ORPHA:240
HP:0005105	Abnormal nasal morphology	9488	PIGB	OMIM:618580
HP:0005105	Abnormal nasal morphology	30000	TNPO2	OMIM:619556
HP:0005105	Abnormal nasal morphology	56896	DPYSL5	OMIM:619435
HP:0005105	Abnormal nasal morphology	5308	PITX2	ORPHA:782
HP:0005105	Abnormal nasal morphology	5308	PITX2	OMIM:180500
HP:0005105	Abnormal nasal morphology	7372	UMPS	ORPHA:30
HP:0005105	Abnormal nasal morphology	23114	NFASC	OMIM:618356
HP:0005105	Abnormal nasal morphology	1908	EDN3	ORPHA:897
HP:0005105	Abnormal nasal morphology	1910	EDNRB	ORPHA:897
HP:0005105	Abnormal nasal morphology	6663	SOX10	ORPHA:897
HP:0005105	Abnormal nasal morphology	6663	SOX10	ORPHA:163746
HP:0005105	Abnormal nasal morphology	5934	RBL2	OMIM:619690
HP:0005105	Abnormal nasal morphology	83999	KREMEN1	OMIM:617392
HP:0005105	Abnormal nasal morphology	3039	HBA1	ORPHA:98791
HP:0005105	Abnormal nasal morphology	3040	HBA2	ORPHA:98791
HP:0005105	Abnormal nasal morphology	153642	ARSK	OMIM:619698
HP:0005105	Abnormal nasal morphology	9969	MED13	OMIM:618009
HP:0005105	Abnormal nasal morphology	7136	TNNI2	OMIM:601680
HP:0005105	Abnormal nasal morphology	7136	TNNI2	ORPHA:1147
HP:0005105	Abnormal nasal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0005105	Abnormal nasal morphology	668	FOXL2	OMIM:110100
HP:0005105	Abnormal nasal morphology	668	FOXL2	ORPHA:572333
HP:0005105	Abnormal nasal morphology	5913	RAPSN	OMIM:618388
HP:0005105	Abnormal nasal morphology	5894	RAF1	ORPHA:500
HP:0005105	Abnormal nasal morphology	84172	POLR1B	ORPHA:861
HP:0005105	Abnormal nasal morphology	9533	POLR1C	ORPHA:861
HP:0005105	Abnormal nasal morphology	51082	POLR1D	ORPHA:861
HP:0005105	Abnormal nasal morphology	6949	TCOF1	ORPHA:861
HP:0005105	Abnormal nasal morphology	4927	NUP88	OMIM:618393
HP:0005105	Abnormal nasal morphology	745	MYRF	OMIM:618280
HP:0005105	Abnormal nasal morphology	5295	PIK3R1	ORPHA:3163
HP:0005105	Abnormal nasal morphology	5295	PIK3R1	OMIM:269880
HP:0005105	Abnormal nasal morphology	10020	GNE	ORPHA:3166
HP:0005105	Abnormal nasal morphology	10020	GNE	OMIM:269921
HP:0005105	Abnormal nasal morphology	27161	AGO2	OMIM:619149
HP:0005105	Abnormal nasal morphology	6499	SKIC2	ORPHA:84064
HP:0005105	Abnormal nasal morphology	6499	SKIC2	OMIM:614602
HP:0005105	Abnormal nasal morphology	23241	PACS2	OMIM:618067
HP:0005105	Abnormal nasal morphology	4758	NEU1	ORPHA:812
HP:0005105	Abnormal nasal morphology	92579	G6PC3	OMIM:612541
HP:0005105	Abnormal nasal morphology	1509	CTSD	OMIM:610127
HP:0005105	Abnormal nasal morphology	8546	AP3B1	OMIM:608233
HP:0005105	Abnormal nasal morphology	10352	WARS2	ORPHA:572798
HP:0005105	Abnormal nasal morphology	147372	CCBE1	ORPHA:2136
HP:0005105	Abnormal nasal morphology	147372	CCBE1	OMIM:235510
HP:0005105	Abnormal nasal morphology	51611	DPH5	OMIM:620070
HP:0005105	Abnormal nasal morphology	5591	PRKDC	OMIM:615966
HP:0005105	Abnormal nasal morphology	7355	SLC35A2	OMIM:300896
HP:0005105	Abnormal nasal morphology	7140	TNNT3	ORPHA:1147
HP:0005105	Abnormal nasal morphology	6509	SLC1A4	ORPHA:447997
HP:0005105	Abnormal nasal morphology	55081	IFT57	OMIM:617927
HP:0005105	Abnormal nasal morphology	9698	PUM1	OMIM:617931
HP:0005105	Abnormal nasal morphology	5859	QARS1	OMIM:615760
HP:0005105	Abnormal nasal morphology	10982	MAPRE2	OMIM:616734
HP:0005105	Abnormal nasal morphology	5925	RB1	ORPHA:1587
HP:0005105	Abnormal nasal morphology	55603	TENT5A	OMIM:617952
HP:0005105	Abnormal nasal morphology	7421	VDR	OMIM:277440
HP:0005105	Abnormal nasal morphology	139285	AMER1	ORPHA:2780
HP:0005105	Abnormal nasal morphology	139285	AMER1	OMIM:300373
HP:0005105	Abnormal nasal morphology	91461	PKDCC	OMIM:618821
HP:0005105	Abnormal nasal morphology	25914	RTTN	ORPHA:468631
HP:0005105	Abnormal nasal morphology	55617	TASP1	OMIM:618950
HP:0005105	Abnormal nasal morphology	114928	GPRASP2	OMIM:301018
HP:0005105	Abnormal nasal morphology	92335	STRADA	OMIM:611087
HP:0005105	Abnormal nasal morphology	6591	SNAI2	ORPHA:2884
HP:0005105	Abnormal nasal morphology	3815	KIT	ORPHA:2884
HP:0005105	Abnormal nasal morphology	51	ACOX1	OMIM:264470
HP:0005105	Abnormal nasal morphology	4750	NEK1	ORPHA:2751
HP:0005105	Abnormal nasal morphology	3778	KCNMA1	OMIM:618729
HP:0005105	Abnormal nasal morphology	56244	BTNL2	ORPHA:797
HP:0005105	Abnormal nasal morphology	3123	HLA-DRB1	ORPHA:797
HP:0005105	Abnormal nasal morphology	94	ACVRL1	OMIM:600376
HP:0005105	Abnormal nasal morphology	2022	ENG	OMIM:187300
HP:0005105	Abnormal nasal morphology	4000	LMNA	ORPHA:740
HP:0005105	Abnormal nasal morphology	6909	TBX2	OMIM:618223
HP:0005105	Abnormal nasal morphology	55120	FANCL	OMIM:614083
HP:0005105	Abnormal nasal morphology	4593	MUSK	OMIM:208150
HP:0005105	Abnormal nasal morphology	23126	POGZ	OMIM:616364
HP:0005105	Abnormal nasal morphology	5557	PRIM1	OMIM:620005
HP:0005105	Abnormal nasal morphology	8626	TP63	OMIM:604292
HP:0005105	Abnormal nasal morphology	71	ACTG1	ORPHA:2995
HP:0005105	Abnormal nasal morphology	2132	EXT2	ORPHA:52022
HP:0005105	Abnormal nasal morphology	51317	PHF21A	ORPHA:52022
HP:0005105	Abnormal nasal morphology	9839	ZEB2	ORPHA:261537
HP:0005105	Abnormal nasal morphology	9839	ZEB2	ORPHA:261552
HP:0005105	Abnormal nasal morphology	78989	COLEC11	OMIM:265050
HP:0005105	Abnormal nasal morphology	6872	TAF1	OMIM:300966
HP:0005105	Abnormal nasal morphology	1968	EIF2S3	OMIM:300148
HP:0005105	Abnormal nasal morphology	7403	KDM6A	OMIM:300867
HP:0005105	Abnormal nasal morphology	7403	KDM6A	OMIM:147920
HP:0005105	Abnormal nasal morphology	4613	MYCN	OMIM:164280
HP:0005105	Abnormal nasal morphology	22858	CILK1	OMIM:612651
HP:0005105	Abnormal nasal morphology	55770	EXOC2	OMIM:619306
HP:0005105	Abnormal nasal morphology	57724	EPG5	ORPHA:1493
HP:0005105	Abnormal nasal morphology	8085	KMT2D	OMIM:147920
HP:0005105	Abnormal nasal morphology	7291	TWIST1	ORPHA:794
HP:0005105	Abnormal nasal morphology	7291	TWIST1	OMIM:101400
HP:0005105	Abnormal nasal morphology	7518	XRCC4	ORPHA:99812
HP:0005105	Abnormal nasal morphology	7518	XRCC4	OMIM:616541
HP:0005105	Abnormal nasal morphology	538	ATP7A	OMIM:304150
HP:0005105	Abnormal nasal morphology	256297	PTF1A	OMIM:609069
HP:0005105	Abnormal nasal morphology	91754	NEK9	OMIM:617022
HP:0005105	Abnormal nasal morphology	221496	LEMD2	OMIM:619322
HP:0005105	Abnormal nasal morphology	91179	SCARF2	OMIM:600920
HP:0005105	Abnormal nasal morphology	55790	CSGALNACT1	OMIM:618870
HP:0005105	Abnormal nasal morphology	6905	TBCE	ORPHA:2323
HP:0005105	Abnormal nasal morphology	6905	TBCE	OMIM:241410
HP:0005105	Abnormal nasal morphology	30008	EFEMP2	OMIM:614437
HP:0005105	Abnormal nasal morphology	7486	WRN	OMIM:277700
HP:0005105	Abnormal nasal morphology	7486	WRN	ORPHA:902
HP:0005105	Abnormal nasal morphology	79840	NHEJ1	ORPHA:169079
HP:0005105	Abnormal nasal morphology	1763	DNA2	OMIM:615807
HP:0005105	Abnormal nasal morphology	6023	RMRP	ORPHA:175
HP:0005105	Abnormal nasal morphology	4052	LTBP1	OMIM:619451
HP:0005105	Abnormal nasal morphology	23511	NUP188	OMIM:618804
HP:0005105	Abnormal nasal morphology	1277	COL1A1	OMIM:166210
HP:0005105	Abnormal nasal morphology	1278	COL1A2	OMIM:166210
HP:0005105	Abnormal nasal morphology	2077	ERF	ORPHA:207
HP:0005105	Abnormal nasal morphology	157680	VPS13B	OMIM:216550
HP:0005105	Abnormal nasal morphology	5424	POLD1	OMIM:615381
HP:0005105	Abnormal nasal morphology	55012	PPP2R3C	OMIM:618419
HP:0005105	Abnormal nasal morphology	29980	DONSON	OMIM:617604
HP:0005105	Abnormal nasal morphology	29980	DONSON	OMIM:251230
HP:0005105	Abnormal nasal morphology	53834	FGFRL1	OMIM:194190
HP:0005105	Abnormal nasal morphology	1487	CTBP1	OMIM:194190
HP:0005105	Abnormal nasal morphology	3954	LETM1	OMIM:194190
HP:0005105	Abnormal nasal morphology	7468	NSD2	OMIM:194190
HP:0005105	Abnormal nasal morphology	10815	CPLX1	OMIM:194190
HP:0005105	Abnormal nasal morphology	4247	MGAT2	OMIM:212066
HP:0005105	Abnormal nasal morphology	4247	MGAT2	ORPHA:79329
HP:0005105	Abnormal nasal morphology	3590	IL11RA	OMIM:614188
HP:0005105	Abnormal nasal morphology	25839	COG4	OMIM:618150
HP:0005105	Abnormal nasal morphology	25839	COG4	ORPHA:85172
HP:0005105	Abnormal nasal morphology	5189	PEX1	OMIM:601539
HP:0005105	Abnormal nasal morphology	83737	ITCH	OMIM:613385
HP:0005105	Abnormal nasal morphology	10293	TRAIP	OMIM:616777
HP:0005105	Abnormal nasal morphology	10293	TRAIP	ORPHA:808
HP:0005105	Abnormal nasal morphology	22995	CEP152	OMIM:613823
HP:0005105	Abnormal nasal morphology	22995	CEP152	ORPHA:808
HP:0005105	Abnormal nasal morphology	113246	C12orf57	OMIM:218340
HP:0005105	Abnormal nasal morphology	9319	TRIP13	OMIM:617598
HP:0005105	Abnormal nasal morphology	51360	MBTPS2	ORPHA:85284
HP:0005105	Abnormal nasal morphology	8815	BANF1	OMIM:614008
HP:0005105	Abnormal nasal morphology	79902	NUP85	ORPHA:808
HP:0005105	Abnormal nasal morphology	84126	ATRIP	ORPHA:808
HP:0005105	Abnormal nasal morphology	55835	CENPJ	ORPHA:808
HP:0005105	Abnormal nasal morphology	860	RUNX2	OMIM:156510
HP:0005105	Abnormal nasal morphology	4212	MEIS2	ORPHA:261190
HP:0005105	Abnormal nasal morphology	10535	RNASEH2A	OMIM:610333
HP:0005105	Abnormal nasal morphology	10535	RNASEH2A	ORPHA:51
HP:0005105	Abnormal nasal morphology	84153	RNASEH2C	ORPHA:51
HP:0005105	Abnormal nasal morphology	25939	SAMHD1	ORPHA:51
HP:0005105	Abnormal nasal morphology	79621	RNASEH2B	ORPHA:51
HP:0005105	Abnormal nasal morphology	103	ADAR	ORPHA:51
HP:0005105	Abnormal nasal morphology	11277	TREX1	ORPHA:51
HP:0005105	Abnormal nasal morphology	100147744	RNU7-1	ORPHA:51
HP:0005105	Abnormal nasal morphology	134353	LSM11	ORPHA:51
HP:0005105	Abnormal nasal morphology	64135	IFIH1	ORPHA:51
HP:0005105	Abnormal nasal morphology	1281	COL3A1	ORPHA:2500
HP:0005105	Abnormal nasal morphology	388015	RTL1	ORPHA:254531
HP:0005105	Abnormal nasal morphology	388015	RTL1	ORPHA:96184
HP:0005105	Abnormal nasal morphology	388015	RTL1	ORPHA:96334
HP:0005105	Abnormal nasal morphology	8788	DLK1	ORPHA:254531
HP:0005105	Abnormal nasal morphology	8788	DLK1	ORPHA:96184
HP:0005105	Abnormal nasal morphology	8788	DLK1	ORPHA:96334
HP:0005105	Abnormal nasal morphology	55384	MEG3	ORPHA:254531
HP:0005105	Abnormal nasal morphology	55384	MEG3	ORPHA:96184
HP:0005105	Abnormal nasal morphology	55384	MEG3	ORPHA:96334
HP:0005105	Abnormal nasal morphology	51574	LARP7	OMIM:615071
HP:0005105	Abnormal nasal morphology	51574	LARP7	ORPHA:319671
HP:0005105	Abnormal nasal morphology	5396	PRRX1	OMIM:202650
HP:0005105	Abnormal nasal morphology	95	ACY1	ORPHA:137754
HP:0005105	Abnormal nasal morphology	5457	POU4F1	ORPHA:314647
HP:0005105	Abnormal nasal morphology	23261	CAMTA1	ORPHA:314647
HP:0005105	Abnormal nasal morphology	55112	DYNC2I1	ORPHA:93271
HP:0005105	Abnormal nasal morphology	57560	IFT80	ORPHA:93271
HP:0005105	Abnormal nasal morphology	57539	WDR35	ORPHA:93271
HP:0005105	Abnormal nasal morphology	79659	DYNC2H1	ORPHA:93271
HP:0005105	Abnormal nasal morphology	89891	DYNC2I2	ORPHA:93271
HP:0005105	Abnormal nasal morphology	5649	RELN	ORPHA:89844
HP:0005105	Abnormal nasal morphology	10300	KATNB1	ORPHA:89844
HP:0005105	Abnormal nasal morphology	54820	NDE1	ORPHA:89844
HP:0005105	Abnormal nasal morphology	4010	LMX1B	ORPHA:495818
HP:0005105	Abnormal nasal morphology	6812	STXBP1	ORPHA:495818
HP:0005105	Abnormal nasal morphology	10484	SEC23A	ORPHA:50814
HP:0005105	Abnormal nasal morphology	9739	SETD1A	OMIM:619056
HP:0005105	Abnormal nasal morphology	92255	LMBRD2	OMIM:619694
HP:0005105	Abnormal nasal morphology	4853	NOTCH2	OMIM:102500
HP:0005105	Abnormal nasal morphology	4853	NOTCH2	ORPHA:955
HP:0005105	Abnormal nasal morphology	3423	IDS	ORPHA:217085
HP:0005105	Abnormal nasal morphology	3423	IDS	ORPHA:217093
HP:0005105	Abnormal nasal morphology	79184	BRCC3	ORPHA:280679
HP:0005105	Abnormal nasal morphology	7841	MOGS	OMIM:606056
HP:0005105	Abnormal nasal morphology	7841	MOGS	ORPHA:79330
HP:0005105	Abnormal nasal morphology	83550	GPR101	ORPHA:963
HP:0005105	Abnormal nasal morphology	9049	AIP	ORPHA:963
HP:0005105	Abnormal nasal morphology	54539	NDUFB11	ORPHA:2556
HP:0005105	Abnormal nasal morphology	3052	HCCS	ORPHA:2556
HP:0005105	Abnormal nasal morphology	79087	ALG12	OMIM:607143
HP:0005105	Abnormal nasal morphology	79087	ALG12	ORPHA:79324
HP:0005105	Abnormal nasal morphology	23116	TOGARAM1	OMIM:619185
HP:0005105	Abnormal nasal morphology	6045	RNF2	OMIM:619460
HP:0005105	Abnormal nasal morphology	8091	HMGA2	ORPHA:94063
HP:0005105	Abnormal nasal morphology	23592	LEMD3	ORPHA:94063
HP:0005105	Abnormal nasal morphology	9184	BUB3	ORPHA:1052
HP:0005105	Abnormal nasal morphology	699	BUB1	ORPHA:1052
HP:0005105	Abnormal nasal morphology	54872	PIGG	ORPHA:488635
HP:0005105	Abnormal nasal morphology	4591	TRIM37	OMIM:253250
HP:0005105	Abnormal nasal morphology	51729	WBP11	OMIM:619227
HP:0005105	Abnormal nasal morphology	3782	KCNN3	ORPHA:3473
HP:0005105	Abnormal nasal morphology	9244	CRLF1	OMIM:272430
HP:0005105	Abnormal nasal morphology	9244	CRLF1	ORPHA:1545
HP:0005105	Abnormal nasal morphology	3425	IDUA	OMIM:607016
HP:0005105	Abnormal nasal morphology	26227	PHGDH	OMIM:256520
HP:0005105	Abnormal nasal morphology	57680	CHD8	OMIM:615032
HP:0005105	Abnormal nasal morphology	2517	FUCA1	OMIM:230000
HP:0005105	Abnormal nasal morphology	92002	CCNQ	OMIM:300707
HP:0005105	Abnormal nasal morphology	3643	INSR	ORPHA:508
HP:0005105	Abnormal nasal morphology	3643	INSR	ORPHA:769
HP:0005105	Abnormal nasal morphology	51633	OTUD6B	ORPHA:505237
HP:0005105	Abnormal nasal morphology	6774	STAT3	OMIM:147060
HP:0005105	Abnormal nasal morphology	4256	MGP	ORPHA:85202
HP:0005105	Abnormal nasal morphology	3832	KIF11	ORPHA:2526
HP:0005105	Abnormal nasal morphology	2542	SLC37A4	OMIM:619525
HP:0005105	Abnormal nasal morphology	79971	WLS	OMIM:619648
HP:0005105	Abnormal nasal morphology	84905	ZNF341	OMIM:618282
HP:0005105	Abnormal nasal morphology	54941	RNF125	OMIM:616260
HP:0005105	Abnormal nasal morphology	9652	SKIC3	OMIM:222470
HP:0005105	Abnormal nasal morphology	54187	NANS	OMIM:610442
HP:0005105	Abnormal nasal morphology	170692	ADAMTS18	OMIM:615458
HP:0005105	Abnormal nasal morphology	23529	CLCF1	ORPHA:1545
HP:0005105	Abnormal nasal morphology	4193	MDM2	OMIM:618681
HP:0005105	Abnormal nasal morphology	4781	NFIB	OMIM:618286
HP:0005105	Abnormal nasal morphology	54551	MAGEL2	ORPHA:398069
HP:0005105	Abnormal nasal morphology	54551	MAGEL2	OMIM:176270
HP:0005105	Abnormal nasal morphology	8200	GDF5	ORPHA:2639
HP:0005105	Abnormal nasal morphology	658	BMPR1B	ORPHA:2639
HP:0005105	Abnormal nasal morphology	4693	NDP	ORPHA:649
HP:0005105	Abnormal nasal morphology	7681	MKRN3	OMIM:176270
HP:0005105	Abnormal nasal morphology	3653	IPW	OMIM:176270
HP:0005105	Abnormal nasal morphology	791114	PWRN1	OMIM:176270
HP:0005105	Abnormal nasal morphology	100033413	SNORD116-1	OMIM:176270
HP:0005105	Abnormal nasal morphology	8924	HERC2	OMIM:176270
HP:0005105	Abnormal nasal morphology	145624	PWAR1	OMIM:176270
HP:0005105	Abnormal nasal morphology	23742	NPAP1	OMIM:176270
HP:0005105	Abnormal nasal morphology	338433	SNORD115-1	OMIM:176270
HP:0005105	Abnormal nasal morphology	4313	MMP2	OMIM:259600
HP:0005105	Abnormal nasal morphology	10236	HNRNPR	OMIM:620073
HP:0005105	Abnormal nasal morphology	51305	KCNK9	ORPHA:166108
HP:0005105	Abnormal nasal morphology	6492	SIM1	ORPHA:398079
HP:0005105	Abnormal nasal morphology	11253	MAN1B1	ORPHA:397941
HP:0005105	Abnormal nasal morphology	11253	MAN1B1	OMIM:614202
HP:0005105	Abnormal nasal morphology	10466	COG5	ORPHA:263487
HP:0005105	Abnormal nasal morphology	9853	RUSC2	OMIM:617773
HP:0005105	Abnormal nasal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005105	Abnormal nasal morphology	100151683	RNU4ATAC	OMIM:226960
HP:0005105	Abnormal nasal morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005105	Abnormal nasal morphology	29926	GMPPA	OMIM:615510
HP:0005105	Abnormal nasal morphology	84942	WDR73	OMIM:251300
HP:0005105	Abnormal nasal morphology	3981	LIG4	OMIM:606593
HP:0005105	Abnormal nasal morphology	10733	PLK4	OMIM:616171
HP:0005105	Abnormal nasal morphology	4983	OPHN1	OMIM:300486
HP:0005105	Abnormal nasal morphology	4983	OPHN1	ORPHA:137831
HP:0005105	Abnormal nasal morphology	23118	TAB2	ORPHA:228410
HP:0005105	Abnormal nasal morphology	5932	RBBP8	OMIM:606744
HP:0005105	Abnormal nasal morphology	5932	RBBP8	OMIM:251255
HP:0005105	Abnormal nasal morphology	10847	SRCAP	OMIM:136140
HP:0005105	Abnormal nasal morphology	1062	CENPE	OMIM:616051
HP:0005105	Abnormal nasal morphology	51506	UFC1	OMIM:618076
HP:0005105	Abnormal nasal morphology	1161	ERCC8	OMIM:216400
HP:0005105	Abnormal nasal morphology	23097	CDK19	OMIM:618916
HP:0005105	Abnormal nasal morphology	26224	FBXL3	OMIM:606220
HP:0005105	Abnormal nasal morphology	16	AARS1	OMIM:619691
HP:0005105	Abnormal nasal morphology	4810	NHS	OMIM:302350
HP:0005105	Abnormal nasal morphology	4810	NHS	ORPHA:627
HP:0005105	Abnormal nasal morphology	51132	RLIM	OMIM:300978
HP:0005105	Abnormal nasal morphology	1513	CTSK	OMIM:265800
HP:0005105	Abnormal nasal morphology	1513	CTSK	ORPHA:763
HP:0005105	Abnormal nasal morphology	55870	ASH1L	OMIM:617796
HP:0005105	Abnormal nasal morphology	23522	KAT6B	OMIM:606170
HP:0005105	Abnormal nasal morphology	23522	KAT6B	ORPHA:85201
HP:0005105	Abnormal nasal morphology	23522	KAT6B	ORPHA:3047
HP:0005105	Abnormal nasal morphology	6491	STIL	OMIM:612703
HP:0005105	Abnormal nasal morphology	2248	FGF3	ORPHA:90024
HP:0005105	Abnormal nasal morphology	444	ASPH	OMIM:601552
HP:0005105	Abnormal nasal morphology	1781	DYNC1I2	OMIM:618492
HP:0005105	Abnormal nasal morphology	23111	SPART	ORPHA:101000
HP:0005105	Abnormal nasal morphology	23258	DENND5A	OMIM:617281
HP:0005105	Abnormal nasal morphology	64919	BCL11B	OMIM:618092
HP:0005105	Abnormal nasal morphology	10297	APC2	OMIM:617169
HP:0005105	Abnormal nasal morphology	80185	TTI2	OMIM:615541
HP:0005105	Abnormal nasal morphology	80185	TTI2	ORPHA:391307
HP:0005105	Abnormal nasal morphology	51199	NIN	OMIM:614851
HP:0005105	Abnormal nasal morphology	51199	NIN	ORPHA:319675
HP:0005105	Abnormal nasal morphology	545	ATR	OMIM:210600
HP:0005105	Abnormal nasal morphology	5116	PCNT	OMIM:210720
HP:0005105	Abnormal nasal morphology	5116	PCNT	ORPHA:2637
HP:0005105	Abnormal nasal morphology	57061	HYMAI	ORPHA:96191
HP:0005105	Abnormal nasal morphology	5325	PLAGL1	ORPHA:96191
HP:0005105	Abnormal nasal morphology	11154	AP4S1	OMIM:614067
HP:0005105	Abnormal nasal morphology	64327	LMBR1	ORPHA:2378
HP:0005105	Abnormal nasal morphology	285175	UNC80	OMIM:616801
HP:0005105	Abnormal nasal morphology	80152	CENPT	OMIM:618702
HP:0005105	Abnormal nasal morphology	80067	DCAF17	ORPHA:3464
HP:0005105	Abnormal nasal morphology	3675	ITGA3	OMIM:614748
HP:0005105	Abnormal nasal morphology	55719	SLF2	OMIM:620184
HP:0005105	Abnormal nasal morphology	23137	SMC5	OMIM:620185
HP:0005105	Abnormal nasal morphology	79759	ZNF668	OMIM:620194
HP:0005105	Abnormal nasal morphology	283209	PGM2L1	OMIM:620191
HP:0005105	Abnormal nasal morphology	10436	EMG1	ORPHA:1270
HP:0005105	Abnormal nasal morphology	10436	EMG1	OMIM:211180
HP:0005105	Abnormal nasal morphology	55755	CDK5RAP2	OMIM:604804
HP:0005105	Abnormal nasal morphology	54870	QRICH1	OMIM:617982
HP:0005105	Abnormal nasal morphology	91875	TTC5	OMIM:619244
HP:0005105	Abnormal nasal morphology	6786	STIM1	OMIM:185070
HP:0005105	Abnormal nasal morphology	641	BLM	OMIM:210900
HP:0005105	Abnormal nasal morphology	8450	CUL4B	ORPHA:85293
HP:0005105	Abnormal nasal morphology	9562	MINPP1	OMIM:619527
HP:0005105	Abnormal nasal morphology	2273	FHL1	OMIM:300280
HP:0005105	Abnormal nasal morphology	5373	PMM2	ORPHA:79318
HP:0005105	Abnormal nasal morphology	54888	NSUN2	OMIM:611091
HP:0005105	Abnormal nasal morphology	153241	CEP120	OMIM:616300
HP:0005105	Abnormal nasal morphology	8218	CLTCL1	ORPHA:453510
HP:0005105	Abnormal nasal morphology	8504	PEX3	OMIM:614882
HP:0005105	Abnormal nasal morphology	1107	CHD3	OMIM:618205
HP:0005105	Abnormal nasal morphology	5718	PSMD12	OMIM:617516
HP:0005105	Abnormal nasal morphology	5824	PEX19	OMIM:614886
HP:0005105	Abnormal nasal morphology	4683	NBN	ORPHA:647
HP:0005105	Abnormal nasal morphology	55553	SOX6	OMIM:618971
HP:0005105	Abnormal nasal morphology	55181	SMG8	OMIM:619268
HP:0005105	Abnormal nasal morphology	9775	EIF4A3	OMIM:268305
HP:0005105	Abnormal nasal morphology	55331	ACER3	OMIM:617762
HP:0005105	Abnormal nasal morphology	2703	GJA8	OMIM:612474
HP:0005105	Abnormal nasal morphology	6878	TAF6	OMIM:617126
HP:0005105	Abnormal nasal morphology	5696	PSMB8	OMIM:256040
HP:0005105	Abnormal nasal morphology	25886	POC1A	OMIM:614813
HP:0005105	Abnormal nasal morphology	8905	AP1S2	OMIM:304340
HP:0005105	Abnormal nasal morphology	27152	INTU	OMIM:617926
HP:0005105	Abnormal nasal morphology	6925	TCF4	ORPHA:2896
HP:0005105	Abnormal nasal morphology	3480	IGF1R	ORPHA:73273
HP:0005105	Abnormal nasal morphology	57459	GATAD2B	OMIM:615074
HP:0005105	Abnormal nasal morphology	57459	GATAD2B	ORPHA:363686
HP:0005105	Abnormal nasal morphology	84282	RNF135	ORPHA:137634
HP:0005105	Abnormal nasal morphology	11133	KPTN	OMIM:615637
HP:0005105	Abnormal nasal morphology	6418	SET	OMIM:618106
HP:0005105	Abnormal nasal morphology	7021	TFAP2B	OMIM:169100
HP:0005105	Abnormal nasal morphology	5575	PRKAR1B	OMIM:619680
HP:0005105	Abnormal nasal morphology	5515	PPP2CA	OMIM:618354
HP:0005105	Abnormal nasal morphology	57511	COG6	ORPHA:363523
HP:0005105	Abnormal nasal morphology	55784	MCTP2	ORPHA:1596
HP:0005105	Abnormal nasal morphology	112939	NACC1	ORPHA:500545
HP:0005105	Abnormal nasal morphology	112939	NACC1	OMIM:617393
HP:0005105	Abnormal nasal morphology	5915	RARB	OMIM:615524
HP:0005105	Abnormal nasal morphology	2720	GLB1	ORPHA:79255
HP:0005105	Abnormal nasal morphology	114034	TOE1	OMIM:614969
HP:0005105	Abnormal nasal morphology	23325	WASHC4	OMIM:615817
HP:0005105	Abnormal nasal morphology	9653	HS2ST1	OMIM:619194
HP:0005105	Abnormal nasal morphology	8558	CDK10	OMIM:617694
HP:0005105	Abnormal nasal morphology	8364	H4C3	OMIM:619758
HP:0005105	Abnormal nasal morphology	11198	SUPT16H	OMIM:619480
HP:0005105	Abnormal nasal morphology	54880	BCOR	OMIM:300166
HP:0005105	Abnormal nasal morphology	81887	LAS1L	ORPHA:3459
HP:0005105	Abnormal nasal morphology	55252	ASXL2	OMIM:617190
HP:0005105	Abnormal nasal morphology	178	AGL	OMIM:232400
HP:0005105	Abnormal nasal morphology	23133	PHF8	ORPHA:85287
HP:0005105	Abnormal nasal morphology	23133	PHF8	OMIM:300263
HP:0005105	Abnormal nasal morphology	23219	FBXO28	OMIM:619777
HP:0005105	Abnormal nasal morphology	5147	PDE6D	ORPHA:2754
HP:0005105	Abnormal nasal morphology	11011	TLK2	OMIM:618050
HP:0005105	Abnormal nasal morphology	10736	SIX2	ORPHA:488437
HP:0005105	Abnormal nasal morphology	9758	FRMPD4	OMIM:300983
HP:0005105	Abnormal nasal morphology	9342	SNAP29	ORPHA:66631
HP:0005105	Abnormal nasal morphology	10157	AASS	ORPHA:2203
HP:0005105	Abnormal nasal morphology	6662	SOX9	OMIM:114290
HP:0005105	Abnormal nasal morphology	4125	MAN2B1	OMIM:248500
HP:0005105	Abnormal nasal morphology	84314	TMEM107	ORPHA:564
HP:0005105	Abnormal nasal morphology	57096	RPGRIP1	ORPHA:564
HP:0005105	Abnormal nasal morphology	2688	GH1	OMIM:262400
HP:0005105	Abnormal nasal morphology	5979	RET	ORPHA:1848
HP:0005105	Abnormal nasal morphology	8516	ITGA8	ORPHA:1848
HP:0005105	Abnormal nasal morphology	26281	FGF20	ORPHA:1848
HP:0005105	Abnormal nasal morphology	2674	GFRA1	ORPHA:1848
HP:0005105	Abnormal nasal morphology	7484	WNT9B	ORPHA:1848
HP:0005105	Abnormal nasal morphology	80000	GREB1L	ORPHA:1848
HP:0005105	Abnormal nasal morphology	5590	PRKCZ	ORPHA:1606
HP:0005105	Abnormal nasal morphology	2563	GABRD	ORPHA:1606
HP:0005105	Abnormal nasal morphology	8510	MMP23B	ORPHA:1606
HP:0005105	Abnormal nasal morphology	7798	LUZP1	ORPHA:1606
HP:0005105	Abnormal nasal morphology	10630	PDPN	ORPHA:1606
HP:0005105	Abnormal nasal morphology	10277	UBE4B	ORPHA:1606
HP:0005105	Abnormal nasal morphology	8514	KCNAB2	ORPHA:1606
HP:0005105	Abnormal nasal morphology	63976	PRDM16	ORPHA:1606
HP:0005105	Abnormal nasal morphology	54897	CASZ1	ORPHA:1606
HP:0005105	Abnormal nasal morphology	5626	PROP1	ORPHA:95494
HP:0005105	Abnormal nasal morphology	5626	PROP1	ORPHA:90695
HP:0005105	Abnormal nasal morphology	89884	LHX4	ORPHA:95494
HP:0005105	Abnormal nasal morphology	3170	FOXA2	ORPHA:95494
HP:0005105	Abnormal nasal morphology	8820	HESX1	ORPHA:95494
HP:0005105	Abnormal nasal morphology	60401	EDA2R	ORPHA:181
HP:0005105	Abnormal nasal morphology	26154	ABCA12	ORPHA:457
HP:0005105	Abnormal nasal morphology	199221	DZIP1L	ORPHA:731
HP:0005105	Abnormal nasal morphology	5314	PKHD1	ORPHA:731
HP:0005105	Abnormal nasal morphology	3930	LBR	OMIM:215140
HP:0005105	Abnormal nasal morphology	6223	RPS19	OMIM:105650
HP:0005105	Abnormal nasal morphology	5781	PTPN11	OMIM:151100
HP:0005105	Abnormal nasal morphology	29968	PSAT1	OMIM:616038
HP:0005105	Abnormal nasal morphology	5081	PAX7	OMIM:618578
HP:0005105	Abnormal nasal morphology	1146	CHRNG	OMIM:253290
HP:0005105	Abnormal nasal morphology	1144	CHRND	OMIM:253290
HP:0005105	Abnormal nasal morphology	1134	CHRNA1	OMIM:253290
HP:0005105	Abnormal nasal morphology	6658	SOX3	ORPHA:90695
HP:0005105	Abnormal nasal morphology	7189	TRAF6	ORPHA:1810
HP:0005105	Abnormal nasal morphology	128178	EDARADD	ORPHA:1810
HP:0005105	Abnormal nasal morphology	10913	EDAR	ORPHA:1810
HP:0005105	Abnormal nasal morphology	54	ACP5	OMIM:607944
HP:0005105	Abnormal nasal morphology	833	CARS1	OMIM:618891
HP:0005105	Abnormal nasal morphology	10525	HYOU1	OMIM:233600
HP:0005105	Abnormal nasal morphology	5426	POLE	OMIM:618336
HP:0005105	Abnormal nasal morphology	1289	COL5A1	OMIM:619329
HP:0005105	Abnormal nasal morphology	9820	CUL7	ORPHA:2616
HP:0005105	Abnormal nasal morphology	9820	CUL7	OMIM:273750
HP:0005105	Abnormal nasal morphology	23363	OBSL1	ORPHA:2616
HP:0005105	Abnormal nasal morphology	23363	OBSL1	OMIM:612921
HP:0005105	Abnormal nasal morphology	83987	CCDC8	ORPHA:2616
HP:0005105	Abnormal nasal morphology	83987	CCDC8	OMIM:614205
HP:0005105	Abnormal nasal morphology	81857	MED25	OMIM:616449
HP:0005105	Abnormal nasal morphology	81857	MED25	ORPHA:464738
HP:0005105	Abnormal nasal morphology	116931	MED12L	OMIM:618872
HP:0005105	Abnormal nasal morphology	9578	CDC42BPB	OMIM:619841
HP:0005105	Abnormal nasal morphology	3020	H3-3A	OMIM:619720
HP:0005105	Abnormal nasal morphology	6536	SLC6A9	OMIM:617301
HP:0005105	Abnormal nasal morphology	51741	WWOX	OMIM:616211
HP:0005105	Abnormal nasal morphology	5830	PEX5	OMIM:202370
HP:0005105	Abnormal nasal morphology	5830	PEX5	ORPHA:44
HP:0005105	Abnormal nasal morphology	23322	RPGRIP1L	ORPHA:220497
HP:0005105	Abnormal nasal morphology	23322	RPGRIP1L	ORPHA:1454
HP:0005105	Abnormal nasal morphology	4867	NPHP1	ORPHA:220497
HP:0005105	Abnormal nasal morphology	65062	TMEM237	ORPHA:220497
HP:0005105	Abnormal nasal morphology	65062	TMEM237	ORPHA:475
HP:0005105	Abnormal nasal morphology	65062	TMEM237	ORPHA:2318
HP:0005105	Abnormal nasal morphology	79639	TMEM53	OMIM:619727
HP:0005105	Abnormal nasal morphology	72	ACTG2	ORPHA:2604
HP:0005105	Abnormal nasal morphology	54806	AHI1	ORPHA:220493
HP:0005105	Abnormal nasal morphology	54806	AHI1	ORPHA:475
HP:0005105	Abnormal nasal morphology	54806	AHI1	ORPHA:791
HP:0005105	Abnormal nasal morphology	54806	AHI1	OMIM:608629
HP:0005105	Abnormal nasal morphology	56623	INPP5E	ORPHA:220493
HP:0005105	Abnormal nasal morphology	56623	INPP5E	ORPHA:475
HP:0005105	Abnormal nasal morphology	56623	INPP5E	OMIM:213300
HP:0005105	Abnormal nasal morphology	56623	INPP5E	ORPHA:1454
HP:0005105	Abnormal nasal morphology	95681	CEP41	ORPHA:220493
HP:0005105	Abnormal nasal morphology	95681	CEP41	ORPHA:475
HP:0005105	Abnormal nasal morphology	3764	KCNJ8	ORPHA:1517
HP:0005105	Abnormal nasal morphology	10060	ABCC9	ORPHA:1517
HP:0005105	Abnormal nasal morphology	10060	ABCC9	OMIM:239850
HP:0005105	Abnormal nasal morphology	79158	GNPTAB	OMIM:252500
HP:0005105	Abnormal nasal morphology	112752	IFT43	ORPHA:1515
HP:0005105	Abnormal nasal morphology	51098	IFT52	ORPHA:1515
HP:0005105	Abnormal nasal morphology	55764	IFT122	ORPHA:1515
HP:0005105	Abnormal nasal morphology	55764	IFT122	OMIM:218330
HP:0005105	Abnormal nasal morphology	57728	WDR19	ORPHA:1515
HP:0005105	Abnormal nasal morphology	57728	WDR19	OMIM:614378
HP:0005105	Abnormal nasal morphology	57589	RIC1	OMIM:618761
HP:0005105	Abnormal nasal morphology	79868	ALG13	ORPHA:324422
HP:0005105	Abnormal nasal morphology	79868	ALG13	OMIM:300884
HP:0005105	Abnormal nasal morphology	317662	FAM149B1	OMIM:618763
HP:0005105	Abnormal nasal morphology	11232	POLG2	OMIM:618528
HP:0005105	Abnormal nasal morphology	171023	ASXL1	ORPHA:97297
HP:0005105	Abnormal nasal morphology	171023	ASXL1	OMIM:605039
HP:0005105	Abnormal nasal morphology	10087	CERT1	OMIM:616351
HP:0005105	Abnormal nasal morphology	54968	TMEM70	OMIM:614052
HP:0005105	Abnormal nasal morphology	5442	POLRMT	OMIM:619743
HP:0005105	Abnormal nasal morphology	8241	RBM10	OMIM:311900
HP:0005105	Abnormal nasal morphology	8241	RBM10	ORPHA:2886
HP:0005105	Abnormal nasal morphology	57167	SALL4	ORPHA:233
HP:0005105	Abnormal nasal morphology	9935	MAFB	ORPHA:233
HP:0005105	Abnormal nasal morphology	1123	CHN1	ORPHA:233
HP:0005105	Abnormal nasal morphology	79600	TCTN1	ORPHA:475
HP:0005105	Abnormal nasal morphology	65250	CPLANE1	ORPHA:475
HP:0005105	Abnormal nasal morphology	91147	TMEM67	ORPHA:475
HP:0005105	Abnormal nasal morphology	91147	TMEM67	OMIM:216360
HP:0005105	Abnormal nasal morphology	91147	TMEM67	ORPHA:1454
HP:0005105	Abnormal nasal morphology	200894	ARL13B	ORPHA:475
HP:0005105	Abnormal nasal morphology	9731	CEP104	ORPHA:475
HP:0005105	Abnormal nasal morphology	23247	KATNIP	ORPHA:475
HP:0005105	Abnormal nasal morphology	23247	KATNIP	OMIM:616784
HP:0005105	Abnormal nasal morphology	219854	TMEM218	ORPHA:475
HP:0005105	Abnormal nasal morphology	9786	KIAA0586	ORPHA:475
HP:0005105	Abnormal nasal morphology	80776	B9D2	ORPHA:475
HP:0005105	Abnormal nasal morphology	10464	PIBF1	ORPHA:475
HP:0005105	Abnormal nasal morphology	80210	ARMC9	ORPHA:475
HP:0005105	Abnormal nasal morphology	25776	CBY1	ORPHA:475
HP:0005105	Abnormal nasal morphology	27077	B9D1	ORPHA:475
HP:0005105	Abnormal nasal morphology	403	ARL3	ORPHA:475
HP:0005105	Abnormal nasal morphology	403	ARL3	ORPHA:791
HP:0005105	Abnormal nasal morphology	403	ARL3	OMIM:618161
HP:0005105	Abnormal nasal morphology	5518	PPP2R1A	OMIM:616362
HP:0005105	Abnormal nasal morphology	5518	PPP2R1A	ORPHA:457284
HP:0005105	Abnormal nasal morphology	253738	EBF3	OMIM:617330
HP:0005105	Abnormal nasal morphology	55768	NGLY1	OMIM:615273
HP:0005105	Abnormal nasal morphology	8493	PPM1D	OMIM:617450
HP:0005105	Abnormal nasal morphology	85301	COL27A1	OMIM:615155
HP:0005105	Abnormal nasal morphology	5792	PTPRF	OMIM:616001
HP:0005105	Abnormal nasal morphology	3572	IL6ST	OMIM:619750
HP:0005105	Abnormal nasal morphology	51692	CPSF3	OMIM:619876
HP:0005105	Abnormal nasal morphology	3098	HK1	OMIM:618547
HP:0005105	Abnormal nasal morphology	79770	TXNDC15	OMIM:619879
HP:0005105	Abnormal nasal morphology	9091	PIGQ	OMIM:618548
HP:0005105	Abnormal nasal morphology	9091	PIGQ	ORPHA:1934
HP:0005105	Abnormal nasal morphology	285362	SUMF1	OMIM:272200
HP:0005105	Abnormal nasal morphology	285362	SUMF1	ORPHA:585
HP:0005105	Abnormal nasal morphology	26137	ZBTB20	OMIM:259050
HP:0005105	Abnormal nasal morphology	8314	BAP1	OMIM:619762
HP:0005105	Abnormal nasal morphology	8733	GPAA1	ORPHA:529665
HP:0005105	Abnormal nasal morphology	8733	GPAA1	OMIM:617810
HP:0005105	Abnormal nasal morphology	253959	RALGAPA1	OMIM:618797
HP:0005105	Abnormal nasal morphology	53335	BCL11A	OMIM:617101
HP:0005105	Abnormal nasal morphology	4849	CNOT3	OMIM:618672
HP:0005105	Abnormal nasal morphology	4285	MIPEP	OMIM:617228
HP:0005105	Abnormal nasal morphology	9928	KIF14	OMIM:616258
HP:0005105	Abnormal nasal morphology	2271	FH	OMIM:606812
HP:0005105	Abnormal nasal morphology	23162	MAPK8IP3	OMIM:618443
HP:0005105	Abnormal nasal morphology	79989	IFT56	OMIM:619534
HP:0005105	Abnormal nasal morphology	9427	ECEL1	OMIM:615065
HP:0005105	Abnormal nasal morphology	5587	PRKD1	OMIM:617364
HP:0005105	Abnormal nasal morphology	9851	KIAA0753	OMIM:617127
HP:0005105	Abnormal nasal morphology	51013	EXOSC1	OMIM:619304
HP:0005105	Abnormal nasal morphology	6792	CDKL5	ORPHA:1934
HP:0005105	Abnormal nasal morphology	6792	CDKL5	OMIM:300672
HP:0005105	Abnormal nasal morphology	3736	KCNA1	ORPHA:1934
HP:0005105	Abnormal nasal morphology	2775	GNAO1	ORPHA:1934
HP:0005105	Abnormal nasal morphology	81603	TRIM8	ORPHA:1934
HP:0005105	Abnormal nasal morphology	2902	GRIN1	ORPHA:1934
HP:0005105	Abnormal nasal morphology	79751	SLC25A22	ORPHA:1934
HP:0005105	Abnormal nasal morphology	150094	SIK1	ORPHA:1934
HP:0005105	Abnormal nasal morphology	23312	DMXL2	ORPHA:1934
HP:0005105	Abnormal nasal morphology	2917	GRM7	ORPHA:1934
HP:0005105	Abnormal nasal morphology	170302	ARX	ORPHA:1934
HP:0005105	Abnormal nasal morphology	11284	PNKP	ORPHA:1934
HP:0005105	Abnormal nasal morphology	6326	SCN2A	ORPHA:1934
HP:0005105	Abnormal nasal morphology	51227	PIGP	ORPHA:1934
HP:0005105	Abnormal nasal morphology	6324	SCN1B	ORPHA:1934
HP:0005105	Abnormal nasal morphology	4761	NEUROD2	ORPHA:1934
HP:0005105	Abnormal nasal morphology	92840	REEP6	ORPHA:791
HP:0005105	Abnormal nasal morphology	6094	ROM1	ORPHA:791
HP:0005105	Abnormal nasal morphology	6017	RLBP1	ORPHA:791
HP:0005105	Abnormal nasal morphology	7401	CLRN1	ORPHA:791
HP:0005105	Abnormal nasal morphology	24	ABCA4	ORPHA:791
HP:0005105	Abnormal nasal morphology	130557	ZNF513	ORPHA:791
HP:0005105	Abnormal nasal morphology	582	BBS1	ORPHA:791
HP:0005105	Abnormal nasal morphology	92211	CDHR1	ORPHA:791
HP:0005105	Abnormal nasal morphology	23568	ARL2BP	ORPHA:791
HP:0005105	Abnormal nasal morphology	6121	RPE65	ORPHA:791
HP:0005105	Abnormal nasal morphology	6101	RP1	ORPHA:791
HP:0005105	Abnormal nasal morphology	3419	IDH3A	ORPHA:791
HP:0005105	Abnormal nasal morphology	4751	NEK2	ORPHA:791
HP:0005105	Abnormal nasal morphology	346007	EYS	ORPHA:791
HP:0005105	Abnormal nasal morphology	8100	IFT88	ORPHA:791
HP:0005105	Abnormal nasal morphology	23020	SNRNP200	ORPHA:791
HP:0005105	Abnormal nasal morphology	762	CA4	ORPHA:791
HP:0005105	Abnormal nasal morphology	138050	HGSNAT	ORPHA:791
HP:0005105	Abnormal nasal morphology	196	AHR	ORPHA:791
HP:0005105	Abnormal nasal morphology	3614	IMPDH1	ORPHA:791
HP:0005105	Abnormal nasal morphology	123016	TTC8	ORPHA:791
HP:0005105	Abnormal nasal morphology	1406	CRX	ORPHA:791
HP:0005105	Abnormal nasal morphology	5148	PDE6G	ORPHA:791
HP:0005105	Abnormal nasal morphology	26160	IFT172	ORPHA:791
HP:0005105	Abnormal nasal morphology	26121	PRPF31	ORPHA:791
HP:0005105	Abnormal nasal morphology	583	BBS2	ORPHA:791
HP:0005105	Abnormal nasal morphology	4117	MAK	ORPHA:791
HP:0005105	Abnormal nasal morphology	25794	FSCN2	ORPHA:791
HP:0005105	Abnormal nasal morphology	375298	CERKL	ORPHA:791
HP:0005105	Abnormal nasal morphology	3420	IDH3B	ORPHA:791
HP:0005105	Abnormal nasal morphology	57670	KIAA1549	ORPHA:791
HP:0005105	Abnormal nasal morphology	7275	TUB	ORPHA:791
HP:0005105	Abnormal nasal morphology	24148	PRPF6	ORPHA:791
HP:0005105	Abnormal nasal morphology	23418	CRB1	ORPHA:791
HP:0005105	Abnormal nasal morphology	10461	MERTK	ORPHA:791
HP:0005105	Abnormal nasal morphology	57709	SLC7A14	ORPHA:791
HP:0005105	Abnormal nasal morphology	768206	PRCD	ORPHA:791
HP:0005105	Abnormal nasal morphology	7399	USH2A	ORPHA:791
HP:0005105	Abnormal nasal morphology	23370	ARHGEF18	ORPHA:791
HP:0005105	Abnormal nasal morphology	5949	RBP3	ORPHA:791
HP:0005105	Abnormal nasal morphology	6010	RHO	ORPHA:791
HP:0005105	Abnormal nasal morphology	6100	RP9	ORPHA:791
HP:0005105	Abnormal nasal morphology	10002	NR2E3	ORPHA:791
HP:0005105	Abnormal nasal morphology	9227	LRAT	ORPHA:791
HP:0005105	Abnormal nasal morphology	84140	FAM161A	ORPHA:791
HP:0005105	Abnormal nasal morphology	55812	SPATA7	ORPHA:791
HP:0005105	Abnormal nasal morphology	79797	ZNF408	ORPHA:791
HP:0005105	Abnormal nasal morphology	5145	PDE6A	ORPHA:791
HP:0005105	Abnormal nasal morphology	10210	TOPORS	ORPHA:791
HP:0005105	Abnormal nasal morphology	8842	PROM1	ORPHA:791
HP:0005105	Abnormal nasal morphology	9128	PRPF4	ORPHA:791
HP:0005105	Abnormal nasal morphology	145226	RDH12	ORPHA:791
HP:0005105	Abnormal nasal morphology	50939	IMPG2	ORPHA:791
HP:0005105	Abnormal nasal morphology	49855	SCAPER	ORPHA:791
HP:0005105	Abnormal nasal morphology	9742	IFT140	ORPHA:791
HP:0005105	Abnormal nasal morphology	2979	GUCA1B	ORPHA:791
HP:0005105	Abnormal nasal morphology	1259	CNGA1	ORPHA:791
HP:0005105	Abnormal nasal morphology	1258	CNGB1	ORPHA:791
HP:0005105	Abnormal nasal morphology	60509	AGBL5	ORPHA:791
HP:0005105	Abnormal nasal morphology	5961	PRPH2	ORPHA:791
HP:0005105	Abnormal nasal morphology	388939	PCARE	ORPHA:791
HP:0005105	Abnormal nasal morphology	7439	BEST1	ORPHA:791
HP:0005105	Abnormal nasal morphology	9785	DHX38	ORPHA:791
HP:0005105	Abnormal nasal morphology	7287	TULP1	ORPHA:791
HP:0005105	Abnormal nasal morphology	5995	RGR	ORPHA:791
HP:0005105	Abnormal nasal morphology	9129	PRPF3	ORPHA:791
HP:0005105	Abnormal nasal morphology	55975	KLHL7	ORPHA:791
HP:0005105	Abnormal nasal morphology	3617	IMPG1	ORPHA:791
HP:0005105	Abnormal nasal morphology	94137	RP1L1	ORPHA:791
HP:0005105	Abnormal nasal morphology	5158	PDE6B	ORPHA:791
HP:0005105	Abnormal nasal morphology	6102	RP2	ORPHA:791
HP:0005105	Abnormal nasal morphology	55857	KIZ	ORPHA:791
HP:0005105	Abnormal nasal morphology	64218	SEMA4A	ORPHA:791
HP:0005105	Abnormal nasal morphology	4901	NRL	ORPHA:791
HP:0005105	Abnormal nasal morphology	157657	CFAP418	ORPHA:791
HP:0005105	Abnormal nasal morphology	10594	PRPF8	ORPHA:791
HP:0005105	Abnormal nasal morphology	84100	ARL6	ORPHA:791
HP:0005105	Abnormal nasal morphology	6295	SAG	ORPHA:791
HP:0005105	Abnormal nasal morphology	79947	DHDDS	ORPHA:791
HP:0005105	Abnormal nasal morphology	5898	RALA	OMIM:619311
HP:0005105	Abnormal nasal morphology	23013	SPEN	OMIM:619312
HP:0005105	Abnormal nasal morphology	54517	PUS7	OMIM:618342
HP:0005105	Abnormal nasal morphology	10785	WDR4	OMIM:618347
HP:0005105	Abnormal nasal morphology	55315	SLC29A3	OMIM:602782
HP:0005105	Abnormal nasal morphology	2972	BRF1	ORPHA:444072
HP:0005105	Abnormal nasal morphology	29998	BICRA	OMIM:619325
HP:0005105	Abnormal nasal morphology	57520	HECW2	OMIM:617268
HP:0005105	Abnormal nasal morphology	23030	KDM4B	OMIM:619320
HP:0005105	Abnormal nasal morphology	4081	MAB21L1	OMIM:618479
HP:0005105	Abnormal nasal morphology	79068	FTO	OMIM:612938
HP:0005105	Abnormal nasal morphology	473	RERE	ORPHA:494344
HP:0005105	Abnormal nasal morphology	473	RERE	OMIM:616975
HP:0005105	Abnormal nasal morphology	7965	AIMP2	OMIM:618006
HP:0005105	Abnormal nasal morphology	80311	KLHL15	OMIM:300982
HP:0005105	Abnormal nasal morphology	774	CACNA1B	OMIM:618497
HP:0005105	Abnormal nasal morphology	5277	PIGA	OMIM:300868
HP:0005105	Abnormal nasal morphology	6611	SMS	ORPHA:3063
HP:0005105	Abnormal nasal morphology	6611	SMS	OMIM:309583
HP:0005105	Abnormal nasal morphology	80036	TRPM3	OMIM:620224
HP:0005105	Abnormal nasal morphology	23405	DICER1	OMIM:618272
HP:0005105	Abnormal nasal morphology	1457	CSNK2A1	OMIM:617062
HP:0005105	Abnormal nasal morphology	2571	GAD1	OMIM:619124
HP:0005105	Abnormal nasal morphology	285590	SH3PXD2B	OMIM:249420
HP:0005105	Abnormal nasal morphology	29123	ANKRD11	ORPHA:261250
HP:0005105	Abnormal nasal morphology	29123	ANKRD11	OMIM:148050
HP:0005105	Abnormal nasal morphology	29123	ANKRD11	ORPHA:2332
HP:0005105	Abnormal nasal morphology	10220	GDF11	OMIM:619122
HP:0005105	Abnormal nasal morphology	9508	ADAMTS3	OMIM:618154
HP:0005105	Abnormal nasal morphology	1654	DDX3X	OMIM:300958
HP:0005105	Abnormal nasal morphology	2799	GNS	OMIM:252940
HP:0005105	Abnormal nasal morphology	57020	VPS35L	OMIM:619135
HP:0005105	Abnormal nasal morphology	84081	NSRP1	OMIM:620001
HP:0005105	Abnormal nasal morphology	1795	DOCK3	OMIM:618292
HP:0005105	Abnormal nasal morphology	84842	HPDL	OMIM:619026
HP:0005105	Abnormal nasal morphology	10128	LRPPRC	OMIM:220111
HP:0005105	Abnormal nasal morphology	9131	AIFM1	OMIM:300232
HP:0005105	Abnormal nasal morphology	9131	AIFM1	ORPHA:83629
HP:0005105	Abnormal nasal morphology	4281	MID1	OMIM:300000
HP:0005105	Abnormal nasal morphology	4281	MID1	ORPHA:2745
HP:0005105	Abnormal nasal morphology	80232	WDR26	ORPHA:513456
HP:0005105	Abnormal nasal morphology	80232	WDR26	OMIM:617616
HP:0005105	Abnormal nasal morphology	8443	GNPAT	OMIM:222765
HP:0005105	Abnormal nasal morphology	9442	MED27	OMIM:619286
HP:0005105	Abnormal nasal morphology	1717	DHCR7	ORPHA:818
HP:0005105	Abnormal nasal morphology	1717	DHCR7	OMIM:270400
HP:0005105	Abnormal nasal morphology	9382	COG1	OMIM:611209
HP:0005105	Abnormal nasal morphology	56992	KIF15	ORPHA:261323
HP:0005105	Abnormal nasal morphology	5119	CHMP1A	OMIM:614961
HP:0005105	Abnormal nasal morphology	93627	TBCK	OMIM:616900
HP:0005105	Abnormal nasal morphology	26053	AUTS2	ORPHA:352490
HP:0005105	Abnormal nasal morphology	26053	AUTS2	OMIM:615834
HP:0005105	Abnormal nasal morphology	23036	ZNF292	OMIM:619188
HP:0005105	Abnormal nasal morphology	6885	MAP3K7	OMIM:157800
HP:0005105	Abnormal nasal morphology	124512	METTL23	OMIM:615942
HP:0005105	Abnormal nasal morphology	55165	CEP55	OMIM:236500
HP:0005105	Abnormal nasal morphology	84992	PIGY	OMIM:616809
HP:0005105	Abnormal nasal morphology	5594	MAPK1	OMIM:619087
HP:0005105	Abnormal nasal morphology	471	ATIC	OMIM:608688
HP:0005105	Abnormal nasal morphology	55691	FRMD4A	OMIM:616819
HP:0005105	Abnormal nasal morphology	55691	FRMD4A	ORPHA:466688
HP:0005105	Abnormal nasal morphology	63895	PIEZO2	OMIM:248700
HP:0005105	Abnormal nasal morphology	55670	PEX26	ORPHA:44
HP:0005105	Abnormal nasal morphology	5828	PEX2	ORPHA:44
HP:0005105	Abnormal nasal morphology	9409	PEX16	ORPHA:44
HP:0005105	Abnormal nasal morphology	8799	PEX11B	ORPHA:44
HP:0005105	Abnormal nasal morphology	5193	PEX12	ORPHA:44
HP:0005105	Abnormal nasal morphology	5194	PEX13	ORPHA:44
HP:0005105	Abnormal nasal morphology	5194	PEX13	OMIM:614883
HP:0005105	Abnormal nasal morphology	5195	PEX14	ORPHA:44
HP:0005105	Abnormal nasal morphology	5192	PEX10	ORPHA:44
HP:0005105	Abnormal nasal morphology	79791	FBXO31	OMIM:615979
HP:0005105	Abnormal nasal morphology	85440	DOCK7	OMIM:615859
HP:0005105	Abnormal nasal morphology	85440	DOCK7	ORPHA:411986
HP:0005105	Abnormal nasal morphology	867	CBL	OMIM:613563
HP:0005105	Abnormal nasal morphology	6497	SKI	ORPHA:2462
HP:0005105	Abnormal nasal morphology	6497	SKI	OMIM:182212
HP:0005105	Abnormal nasal morphology	55906	ZC4H2	OMIM:301041
HP:0005105	Abnormal nasal morphology	55906	ZC4H2	OMIM:314580
HP:0005105	Abnormal nasal morphology	1788	DNMT3A	OMIM:615879
HP:0005105	Abnormal nasal morphology	23028	KDM1A	OMIM:616728
HP:0005105	Abnormal nasal morphology	23028	KDM1A	ORPHA:477993
HP:0005105	Abnormal nasal morphology	5160	PDHA1	OMIM:312170
HP:0005105	Abnormal nasal morphology	3097	HIVEP2	OMIM:616977
HP:0005105	Abnormal nasal morphology	5339	PLEC	OMIM:612138
HP:0005105	Abnormal nasal morphology	10265	IRX5	OMIM:611174
HP:0005105	Abnormal nasal morphology	134701	RIPPLY2	ORPHA:2311
HP:0005105	Abnormal nasal morphology	10683	DLL3	ORPHA:2311
HP:0005105	Abnormal nasal morphology	3955	LFNG	ORPHA:2311
HP:0005105	Abnormal nasal morphology	84667	HES7	ORPHA:2311
HP:0005105	Abnormal nasal morphology	145873	MESP2	ORPHA:2311
HP:0005105	Abnormal nasal morphology	91137	SLC25A46	OMIM:616505
HP:0005105	Abnormal nasal morphology	57211	ADGRG6	OMIM:616503
HP:0005105	Abnormal nasal morphology	2138	EYA1	ORPHA:2792
HP:0005105	Abnormal nasal morphology	5075	PAX1	ORPHA:2792
HP:0005105	Abnormal nasal morphology	79583	TMEM231	ORPHA:2318
HP:0005105	Abnormal nasal morphology	51524	TMEM138	ORPHA:2318
HP:0005105	Abnormal nasal morphology	23090	ZNF423	ORPHA:2318
HP:0005105	Abnormal nasal morphology	80184	CEP290	ORPHA:2318
HP:0005105	Abnormal nasal morphology	51259	TMEM216	ORPHA:2318
HP:0005105	Abnormal nasal morphology	57545	CC2D2A	ORPHA:2318
HP:0005105	Abnormal nasal morphology	57545	CC2D2A	ORPHA:1454
HP:0005105	Abnormal nasal morphology	9419	CRIPT	OMIM:615789
HP:0005105	Abnormal nasal morphology	10367	MICU1	OMIM:615673
HP:0005105	Abnormal nasal morphology	1861	TOR1A	OMIM:618947
HP:0005105	Abnormal nasal morphology	5293	PIK3CD	ORPHA:221139
HP:0005105	Abnormal nasal morphology	90417	KNSTRN	ORPHA:221139
HP:0005105	Abnormal nasal morphology	23630	KCNE5	ORPHA:86818
HP:0005105	Abnormal nasal morphology	2182	ACSL4	ORPHA:86818
HP:0005105	Abnormal nasal morphology	9949	AMMECR1	ORPHA:86818
HP:0005105	Abnormal nasal morphology	284252	KCTD1	OMIM:181270
HP:0005105	Abnormal nasal morphology	51124	IER3IP1	OMIM:614231
HP:0005105	Abnormal nasal morphology	6911	TBX6	ORPHA:1797
HP:0005105	Abnormal nasal morphology	100506658	OCLN	OMIM:251290
HP:0005105	Abnormal nasal morphology	5879	RAC1	OMIM:617751
HP:0005105	Abnormal nasal morphology	5879	RAC1	ORPHA:500159
HP:0005105	Abnormal nasal morphology	26503	SLC17A5	OMIM:269920
HP:0005105	Abnormal nasal morphology	738	VPS51	OMIM:618606
HP:0005105	Abnormal nasal morphology	85378	TUBGCP6	ORPHA:2518
HP:0005105	Abnormal nasal morphology	27229	TUBGCP4	ORPHA:2518
HP:0005105	Abnormal nasal morphology	9939	RBM8A	OMIM:274000
HP:0005105	Abnormal nasal morphology	4848	CNOT2	OMIM:618608
HP:0005105	Abnormal nasal morphology	64131	XYLT1	ORPHA:1425
HP:0005105	Abnormal nasal morphology	4204	MECP2	OMIM:300260
HP:0005105	Abnormal nasal morphology	57647	DHX37	OMIM:618731
HP:0005105	Abnormal nasal morphology	672	BRCA1	OMIM:617883
HP:0005105	Abnormal nasal morphology	5087	PBX1	OMIM:617641
HP:0005105	Abnormal nasal morphology	4858	NOVA2	OMIM:618859
HP:0005105	Abnormal nasal morphology	4123	MAN2C1	OMIM:619775
HP:0005105	Abnormal nasal morphology	1063	CENPF	OMIM:243605
HP:0005105	Abnormal nasal morphology	55623	THUMPD1	OMIM:619989
HP:0005105	Abnormal nasal morphology	54345	SOX18	OMIM:137940
HP:0005105	Abnormal nasal morphology	94005	PIGS	OMIM:618143
HP:0005105	Abnormal nasal morphology	10479	SLC9A6	OMIM:300243
HP:0005105	Abnormal nasal morphology	10472	ZBTB18	OMIM:612337
HP:0005105	Abnormal nasal morphology	2556	GABRA3	OMIM:301091
HP:0005105	Abnormal nasal morphology	222663	SCUBE3	OMIM:619184
HP:0005105	Abnormal nasal morphology	64840	PORCN	OMIM:305600
HP:0005105	Abnormal nasal morphology	341640	FREM2	ORPHA:2052
HP:0005105	Abnormal nasal morphology	80144	FRAS1	ORPHA:2052
HP:0005105	Abnormal nasal morphology	80144	FRAS1	OMIM:219000
HP:0005105	Abnormal nasal morphology	23426	GRIP1	ORPHA:2052
HP:0005105	Abnormal nasal morphology	2261	FGFR3	ORPHA:15
HP:0005105	Abnormal nasal morphology	7025	NR2F1	ORPHA:401777
HP:0005105	Abnormal nasal morphology	55624	POMGNT1	OMIM:253280
HP:0005105	Abnormal nasal morphology	4854	NOTCH3	OMIM:130720
HP:0005105	Abnormal nasal morphology	55503	TRPV6	OMIM:618188
HP:0005105	Abnormal nasal morphology	2137	EXTL3	ORPHA:508533
HP:0005105	Abnormal nasal morphology	1718	DHCR24	OMIM:602398
HP:0005105	Abnormal nasal morphology	1718	DHCR24	ORPHA:35107
HP:0005105	Abnormal nasal morphology	10617	STAMBP	OMIM:614261
HP:0005105	Abnormal nasal morphology	340533	NEXMIF	OMIM:300912
HP:0005105	Abnormal nasal morphology	340533	NEXMIF	ORPHA:85277
HP:0005105	Abnormal nasal morphology	5728	PTEN	OMIM:605309
HP:0005105	Abnormal nasal morphology	5728	PTEN	ORPHA:109
HP:0005105	Abnormal nasal morphology	6659	SOX4	OMIM:618506
HP:0005105	Abnormal nasal morphology	6659	SOX4	ORPHA:1465
HP:0005105	Abnormal nasal morphology	4897	NRCAM	OMIM:619833
HP:0005105	Abnormal nasal morphology	5077	PAX3	ORPHA:1529
HP:0005105	Abnormal nasal morphology	5077	PAX3	ORPHA:894
HP:0005105	Abnormal nasal morphology	5077	PAX3	OMIM:122880
HP:0005105	Abnormal nasal morphology	80816	ASXL3	OMIM:615485
HP:0005105	Abnormal nasal morphology	1855	DVL1	OMIM:616331
HP:0005105	Abnormal nasal morphology	1855	DVL1	OMIM:180700
HP:0005105	Abnormal nasal morphology	1855	DVL1	ORPHA:3107
HP:0005105	Abnormal nasal morphology	5184	PEPD	OMIM:170100
HP:0005105	Abnormal nasal morphology	129563	DIS3L2	ORPHA:2849
HP:0005105	Abnormal nasal morphology	28960	DCPS	OMIM:616459
HP:0005105	Abnormal nasal morphology	23384	SPECC1L	ORPHA:1519
HP:0005105	Abnormal nasal morphology	23384	SPECC1L	OMIM:145420
HP:0005105	Abnormal nasal morphology	55650	PIGV	OMIM:239300
HP:0005105	Abnormal nasal morphology	2260	FGFR1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	2260	FGFR1	OMIM:166250
HP:0005105	Abnormal nasal morphology	2260	FGFR1	OMIM:190440
HP:0005105	Abnormal nasal morphology	2260	FGFR1	OMIM:101600
HP:0005105	Abnormal nasal morphology	2260	FGFR1	ORPHA:93258
HP:0005105	Abnormal nasal morphology	28514	DLL1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	2253	FGF8	ORPHA:280200
HP:0005105	Abnormal nasal morphology	6496	SIX3	ORPHA:280200
HP:0005105	Abnormal nasal morphology	7050	TGIF1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	4838	NODAL	ORPHA:280200
HP:0005105	Abnormal nasal morphology	6469	SHH	ORPHA:280200
HP:0005105	Abnormal nasal morphology	51684	SUFU	ORPHA:280200
HP:0005105	Abnormal nasal morphology	7546	ZIC2	ORPHA:280200
HP:0005105	Abnormal nasal morphology	2619	GAS1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	84976	DISP1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	2736	GLI2	ORPHA:280200
HP:0005105	Abnormal nasal morphology	8928	FOXH1	ORPHA:280200
HP:0005105	Abnormal nasal morphology	50937	CDON	ORPHA:280200
HP:0005105	Abnormal nasal morphology	65082	VPS33A	ORPHA:505248
HP:0005105	Abnormal nasal morphology	1896	EDA	OMIM:305100
HP:0005105	Abnormal nasal morphology	3190	HNRNPK	OMIM:616580
HP:0005105	Abnormal nasal morphology	113189	CHST14	ORPHA:2953
HP:0005105	Abnormal nasal morphology	113189	CHST14	OMIM:601776
HP:0005105	Abnormal nasal morphology	29940	DSE	ORPHA:2953
HP:0005105	Abnormal nasal morphology	29940	DSE	OMIM:615539
HP:0005105	Abnormal nasal morphology	10606	PAICS	OMIM:619859
HP:0005105	Abnormal nasal morphology	64359	NXN	OMIM:618529
HP:0005105	Abnormal nasal morphology	64359	NXN	ORPHA:1507
HP:0005105	Abnormal nasal morphology	9326	ZNHIT3	ORPHA:2836
HP:0005105	Abnormal nasal morphology	9326	ZNHIT3	OMIM:260565
HP:0005105	Abnormal nasal morphology	547	KIF1A	ORPHA:2836
HP:0005105	Abnormal nasal morphology	2770	GNAI1	OMIM:619854
HP:0005105	Abnormal nasal morphology	1009	CDH11	OMIM:619736
HP:0005105	Abnormal nasal morphology	4920	ROR2	ORPHA:1507
HP:0005105	Abnormal nasal morphology	4920	ROR2	OMIM:268310
HP:0005105	Abnormal nasal morphology	2697	GJA1	ORPHA:2710
HP:0005105	Abnormal nasal morphology	2697	GJA1	OMIM:164200
HP:0005105	Abnormal nasal morphology	2626	GATA4	ORPHA:251071
HP:0005105	Abnormal nasal morphology	857	CAV1	OMIM:606721
HP:0005105	Abnormal nasal morphology	4330	MN1	OMIM:618774
HP:0005105	Abnormal nasal morphology	4297	KMT2A	ORPHA:319182
HP:0005105	Abnormal nasal morphology	1301	COL11A1	OMIM:228520
HP:0005105	Abnormal nasal morphology	1301	COL11A1	ORPHA:560
HP:0005105	Abnormal nasal morphology	1301	COL11A1	OMIM:154780
HP:0005105	Abnormal nasal morphology	23327	NEDD4L	OMIM:617201
HP:0005105	Abnormal nasal morphology	2903	GRIN2A	ORPHA:289266
HP:0005105	Abnormal nasal morphology	2903	GRIN2A	OMIM:245570
HP:0005105	Abnormal nasal morphology	1280	COL2A1	ORPHA:90653
HP:0005105	Abnormal nasal morphology	8036	SHOC2	ORPHA:2701
HP:0005105	Abnormal nasal morphology	5500	PPP1CB	ORPHA:2701
HP:0005105	Abnormal nasal morphology	2783	GNB2	OMIM:619503
HP:0005105	Abnormal nasal morphology	26040	SETBP1	OMIM:269150
HP:0005105	Abnormal nasal morphology	26040	SETBP1	ORPHA:798
HP:0005105	Abnormal nasal morphology	2316	FLNA	ORPHA:90652
HP:0005105	Abnormal nasal morphology	2316	FLNA	OMIM:311300
HP:0005105	Abnormal nasal morphology	1789	DNMT3B	OMIM:242860
HP:0005105	Abnormal nasal morphology	51604	PIGT	OMIM:615398
HP:0005105	Abnormal nasal morphology	2200	FBN1	OMIM:614185
HP:0005105	Abnormal nasal morphology	2200	FBN1	ORPHA:969
HP:0005105	Abnormal nasal morphology	55699	IARS2	OMIM:616007
HP:0005105	Abnormal nasal morphology	5048	PAFAH1B1	ORPHA:217385
HP:0005105	Abnormal nasal morphology	5048	PAFAH1B1	ORPHA:531
HP:0005105	Abnormal nasal morphology	7531	YWHAE	ORPHA:217385
HP:0005105	Abnormal nasal morphology	7531	YWHAE	ORPHA:531
HP:0005105	Abnormal nasal morphology	27125	AFF4	OMIM:616368
HP:0005105	Abnormal nasal morphology	27125	AFF4	ORPHA:444077
HP:0005105	Abnormal nasal morphology	9841	ZBTB24	OMIM:614069
HP:0005105	Abnormal nasal morphology	415	ARSL	ORPHA:79345
HP:0005105	Abnormal nasal morphology	415	ARSL	OMIM:302950
HP:0005105	Abnormal nasal morphology	79796	ALG9	ORPHA:79328
HP:0005105	Abnormal nasal morphology	79796	ALG9	OMIM:608776
HP:0005105	Abnormal nasal morphology	79718	TBL1XR1	OMIM:602342
HP:0005105	Abnormal nasal morphology	55210	ATAD3A	ORPHA:496790
HP:0005105	Abnormal nasal morphology	55210	ATAD3A	OMIM:617183
HP:0005105	Abnormal nasal morphology	8818	DPM2	OMIM:615042
HP:0005105	Abnormal nasal morphology	8818	DPM2	ORPHA:329178
HP:0005105	Abnormal nasal morphology	7750	ZMYM2	OMIM:619522
HP:0005105	Abnormal nasal morphology	27086	FOXP1	ORPHA:391372
HP:0005105	Abnormal nasal morphology	27086	FOXP1	OMIM:613670
HP:0005105	Abnormal nasal morphology	54928	BPNT2	OMIM:614078
HP:0005105	Abnormal nasal morphology	6942	TCF20	OMIM:618430
HP:0005105	Abnormal nasal morphology	9772	TMEM94	OMIM:618316
HP:0005105	Abnormal nasal morphology	25973	PARS2	OMIM:618437
HP:0005105	Abnormal nasal morphology	124583	CANT1	OMIM:251450
HP:0005105	Abnormal nasal morphology	56975	FAM20C	ORPHA:1832
HP:0005105	Abnormal nasal morphology	56975	FAM20C	OMIM:259775
HP:0005105	Abnormal nasal morphology	4208	MEF2C	ORPHA:228384
HP:0005105	Abnormal nasal morphology	4208	MEF2C	OMIM:613443
HP:0005105	Abnormal nasal morphology	23556	PIGN	OMIM:614080
HP:0005105	Abnormal nasal morphology	23556	PIGN	ORPHA:280633
HP:0005105	Abnormal nasal morphology	2239	GPC4	ORPHA:373
HP:0005105	Abnormal nasal morphology	2239	GPC4	OMIM:312870
HP:0005105	Abnormal nasal morphology	2719	GPC3	ORPHA:373
HP:0005105	Abnormal nasal morphology	2719	GPC3	OMIM:312870
HP:0005105	Abnormal nasal morphology	84168	ANTXR1	OMIM:230740
HP:0005105	Abnormal nasal morphology	2317	FLNB	OMIM:272460
HP:0005105	Abnormal nasal morphology	2317	FLNB	OMIM:108720
HP:0005105	Abnormal nasal morphology	6595	SMARCA2	OMIM:601358
HP:0005105	Abnormal nasal morphology	1387	CREBBP	OMIM:618332
HP:0005105	Abnormal nasal morphology	8295	TRRAP	OMIM:618454
HP:0005105	Abnormal nasal morphology	5881	RAC3	OMIM:618577
HP:0005105	Abnormal nasal morphology	54101	RIPK4	OMIM:263650
HP:0005105	Abnormal nasal morphology	54101	RIPK4	ORPHA:1234
HP:0005105	Abnormal nasal morphology	26173	INTS1	OMIM:618571
HP:0005105	Abnormal nasal morphology	1642	DDB1	OMIM:619426
HP:0005105	Abnormal nasal morphology	6857	SYT1	OMIM:618218
HP:0005105	Abnormal nasal morphology	6857	SYT1	ORPHA:522077
HP:0005105	Abnormal nasal morphology	5813	PURA	ORPHA:314655
HP:0005105	Abnormal nasal morphology	2737	GLI3	ORPHA:672
HP:0005105	Abnormal nasal morphology	2737	GLI3	OMIM:146510
HP:0005105	Abnormal nasal morphology	4921	DDR2	OMIM:271665
HP:0005105	Abnormal nasal morphology	54892	NCAPG2	OMIM:618460
HP:0005105	Abnormal nasal morphology	1859	DYRK1A	ORPHA:268261
HP:0005105	Abnormal nasal morphology	8573	CASK	OMIM:300749
HP:0005105	Abnormal nasal morphology	23314	SATB2	ORPHA:251028
HP:0005105	Abnormal nasal morphology	79813	EHMT1	ORPHA:96147
HP:0005105	Abnormal nasal morphology	128869	PIGU	OMIM:618590
HP:0005105	Abnormal nasal morphology	1349	COX7B	OMIM:300887
HP:0005105	Abnormal nasal morphology	6651	SON	OMIM:617140
HP:0005105	Abnormal nasal morphology	6651	SON	ORPHA:500150
HP:0005105	Abnormal nasal morphology	8882	ZPR1	OMIM:619321
HP:0005105	Abnormal nasal morphology	55777	MBD5	OMIM:156200
HP:0005105	Abnormal nasal morphology	4784	NFIX	OMIM:602535
HP:0005105	Abnormal nasal morphology	4784	NFIX	ORPHA:561
HP:0005105	Abnormal nasal morphology	4784	NFIX	OMIM:614753
HP:0005105	Abnormal nasal morphology	4621	MYH3	OMIM:193700
HP:0005105	Abnormal nasal morphology	2530	FUT8	OMIM:618005
HP:0005105	Abnormal nasal morphology	54496	PRMT7	OMIM:617157
HP:0005105	Abnormal nasal morphology	8260	NAA10	OMIM:300855
HP:0005105	Abnormal nasal morphology	10082	GPC6	OMIM:258315
HP:0005105	Abnormal nasal morphology	10082	GPC6	ORPHA:93329
HP:0005105	Abnormal nasal morphology	551	AVP	OMIM:125700
HP:0005105	Abnormal nasal morphology	23389	MED13L	ORPHA:369891
HP:0005105	Abnormal nasal morphology	10013	HDAC6	OMIM:300863
HP:0005105	Abnormal nasal morphology	10013	HDAC6	ORPHA:163966
HP:0005105	Abnormal nasal morphology	3977	LIFR	OMIM:601559
HP:0005105	Abnormal nasal morphology	11342	RNF13	OMIM:618379
HP:0005105	Abnormal nasal morphology	11342	RNF13	ORPHA:544503
HP:0005105	Abnormal nasal morphology	5144	PDE4D	ORPHA:439822
HP:0005105	Abnormal nasal morphology	5144	PDE4D	ORPHA:950
HP:0005105	Abnormal nasal morphology	5144	PDE4D	OMIM:614613
HP:0005105	Abnormal nasal morphology	9343	EFTUD2	OMIM:610536
HP:0005105	Abnormal nasal morphology	9343	EFTUD2	ORPHA:79113
HP:0005105	Abnormal nasal morphology	9321	TRIP11	ORPHA:166272
HP:0005105	Abnormal nasal morphology	9321	TRIP11	ORPHA:93299
HP:0005105	Abnormal nasal morphology	9321	TRIP11	OMIM:200600
HP:0005105	Abnormal nasal morphology	4882	NPR2	OMIM:602875
HP:0005105	Abnormal nasal morphology	5281	PIGF	OMIM:619356
HP:0005105	Abnormal nasal morphology	2290	FOXG1	ORPHA:261144
HP:0005105	Abnormal nasal morphology	6711	SPTBN1	OMIM:619475
HP:0005105	Abnormal nasal morphology	6608	SMO	OMIM:241800
HP:0005105	Abnormal nasal morphology	4796	TONSL	OMIM:271510
HP:0005105	Abnormal nasal morphology	4796	TONSL	ORPHA:93357
HP:0005105	Abnormal nasal morphology	136647	MPLKIP	OMIM:234050
HP:0005105	Abnormal nasal morphology	7204	TRIO	OMIM:617061
HP:0005105	Abnormal nasal morphology	7204	TRIO	ORPHA:476126
HP:0005105	Abnormal nasal morphology	3636	INPPL1	OMIM:258480
HP:0005105	Abnormal nasal morphology	3636	INPPL1	ORPHA:2746
HP:0005105	Abnormal nasal morphology	8567	MADD	OMIM:619004
HP:0005105	Abnormal nasal morphology	8567	MADD	OMIM:619005
HP:0005105	Abnormal nasal morphology	374879	ZNF699	OMIM:619488
HP:0005105	Abnormal nasal morphology	9373	PLAA	ORPHA:521426
HP:0005105	Abnormal nasal morphology	9373	PLAA	OMIM:617527
HP:0005105	Abnormal nasal morphology	64093	SMOC1	OMIM:206920
HP:0005105	Abnormal nasal morphology	23169	SLC35D1	OMIM:269250
HP:0005105	Abnormal nasal morphology	93587	TRMT10A	ORPHA:391408
HP:0005105	Abnormal nasal morphology	84919	PPP1R15B	ORPHA:391408
HP:0005105	Abnormal nasal morphology	3090	HIC1	ORPHA:531
HP:0005105	Abnormal nasal morphology	5528	PPP2R5D	ORPHA:457279
HP:0005105	Abnormal nasal morphology	89970	RSPRY1	ORPHA:457395
HP:0005105	Abnormal nasal morphology	89970	RSPRY1	OMIM:616723
HP:0005105	Abnormal nasal morphology	7474	WNT5A	OMIM:180700
HP:0005105	Abnormal nasal morphology	7474	WNT5A	ORPHA:3107
HP:0005105	Abnormal nasal morphology	9897	WASHC5	ORPHA:7
HP:0005105	Abnormal nasal morphology	28952	CCDC22	ORPHA:7
HP:0005105	Abnormal nasal morphology	129285	PPP1R21	OMIM:619383
HP:0005105	Abnormal nasal morphology	2263	FGFR2	OMIM:101600
HP:0005105	Abnormal nasal morphology	2263	FGFR2	ORPHA:93260
HP:0005105	Abnormal nasal morphology	2263	FGFR2	ORPHA:93258
HP:0005105	Abnormal nasal morphology	2263	FGFR2	ORPHA:93259
HP:0005105	Abnormal nasal morphology	168667	BMPER	OMIM:608022
HP:0005105	Abnormal nasal morphology	5573	PRKAR1A	ORPHA:950
HP:0005105	Abnormal nasal morphology	158	ADSL	OMIM:103050
HP:0005105	Abnormal nasal morphology	158	ADSL	ORPHA:46
HP:0005105	Abnormal nasal morphology	6309	SC5D	ORPHA:46059
HP:0005105	Abnormal nasal morphology	6309	SC5D	OMIM:607330
HP:0005105	Abnormal nasal morphology	5885	RAD21	OMIM:614701
HP:0005105	Abnormal nasal morphology	5885	RAD21	ORPHA:199
HP:0005105	Abnormal nasal morphology	673	BRAF	OMIM:115150
HP:0005105	Abnormal nasal morphology	673	BRAF	ORPHA:1340
HP:0005105	Abnormal nasal morphology	145173	B3GLCT	ORPHA:709
HP:0005105	Abnormal nasal morphology	4774	NFIA	OMIM:613735
HP:0005105	Abnormal nasal morphology	2629	GBA1	OMIM:608013
HP:0005105	Abnormal nasal morphology	5447	POR	ORPHA:95699
HP:0005105	Abnormal nasal morphology	9401	RECQL4	OMIM:268400
HP:0005105	Abnormal nasal morphology	9401	RECQL4	ORPHA:1225
HP:0005105	Abnormal nasal morphology	374654	KIF7	OMIM:200990
HP:0005105	Abnormal nasal morphology	89910	UBE3B	OMIM:244450
HP:0005105	Abnormal nasal morphology	2314	FLII	ORPHA:819
HP:0005105	Abnormal nasal morphology	23096	IQSEC2	ORPHA:819
HP:0005105	Abnormal nasal morphology	10743	RAI1	ORPHA:819
HP:0005105	Abnormal nasal morphology	10522	DEAF1	ORPHA:819
HP:0005105	Abnormal nasal morphology	10978	CLP1	OMIM:615803
HP:0005105	Abnormal nasal morphology	10225	CD96	OMIM:211750
HP:0005105	Abnormal nasal morphology	10225	CD96	ORPHA:1308
HP:0005105	Abnormal nasal morphology	4038	LRP4	ORPHA:3258
HP:0005105	Abnormal nasal morphology	324	APC	ORPHA:3258
HP:0005105	Abnormal nasal morphology	6197	RPS6KA3	OMIM:303600
HP:0005105	Abnormal nasal morphology	4001	LMNB1	OMIM:619179
HP:0005105	Abnormal nasal morphology	8913	CACNA1G	OMIM:618087
HP:0005105	Abnormal nasal morphology	1889	ECE1	OMIM:613870
HP:0005105	Abnormal nasal morphology	4054	LTBP3	ORPHA:969
HP:0005105	Abnormal nasal morphology	4338	MOCS2	OMIM:252160
HP:0005105	Abnormal nasal morphology	79867	TCTN2	OMIM:613885
HP:0005105	Abnormal nasal morphology	1028	CDKN1C	OMIM:614732
HP:0005105	Abnormal nasal morphology	2752	GLUL	OMIM:610015
HP:0005105	Abnormal nasal morphology	4036	LRP2	ORPHA:2143
HP:0005105	Abnormal nasal morphology	4036	LRP2	OMIM:222448
HP:0005105	Abnormal nasal morphology	83879	CDCA7	OMIM:616910
HP:0005105	Abnormal nasal morphology	25942	SIN3A	OMIM:613406
HP:0005105	Abnormal nasal morphology	175	AGA	ORPHA:93
HP:0005105	Abnormal nasal morphology	5063	PAK3	OMIM:300558
HP:0005105	Abnormal nasal morphology	2677	GGCX	OMIM:277450
HP:0005105	Abnormal nasal morphology	1857	DVL3	ORPHA:3107
HP:0005105	Abnormal nasal morphology	1857	DVL3	OMIM:616894
HP:0005105	Abnormal nasal morphology	2535	FZD2	ORPHA:3107
HP:0005105	Abnormal nasal morphology	2535	FZD2	ORPHA:93328
HP:0005105	Abnormal nasal morphology	5190	PEX6	OMIM:614863
HP:0005105	Abnormal nasal morphology	6201	RPS7	OMIM:612563
HP:0005105	Abnormal nasal morphology	6804	STX1A	ORPHA:904
HP:0005105	Abnormal nasal morphology	7461	CLIP2	ORPHA:904
HP:0005105	Abnormal nasal morphology	84277	DNAJC30	ORPHA:904
HP:0005105	Abnormal nasal morphology	8468	FKBP6	ORPHA:904
HP:0005105	Abnormal nasal morphology	5982	RFC2	ORPHA:904
HP:0005105	Abnormal nasal morphology	2969	GTF2I	ORPHA:904
HP:0005105	Abnormal nasal morphology	3984	LIMK1	ORPHA:904
HP:0005105	Abnormal nasal morphology	9569	GTF2IRD1	ORPHA:904
HP:0005105	Abnormal nasal morphology	155382	VPS37D	ORPHA:904
HP:0005105	Abnormal nasal morphology	155368	METTL27	ORPHA:904
HP:0005105	Abnormal nasal morphology	114049	BUD23	ORPHA:904
HP:0005105	Abnormal nasal morphology	7458	EIF4H	ORPHA:904
HP:0005105	Abnormal nasal morphology	84163	GTF2IRD2	ORPHA:904
HP:0005105	Abnormal nasal morphology	9275	BCL7B	ORPHA:904
HP:0005105	Abnormal nasal morphology	26608	TBL2	ORPHA:904
HP:0005105	Abnormal nasal morphology	653361	NCF1	ORPHA:904
HP:0005105	Abnormal nasal morphology	135886	TMEM270	ORPHA:904
HP:0005105	Abnormal nasal morphology	51085	MLXIPL	ORPHA:904
HP:0005105	Abnormal nasal morphology	51085	MLXIPL	OMIM:194050
HP:0005105	Abnormal nasal morphology	9031	BAZ1B	ORPHA:904
HP:0005105	Abnormal nasal morphology	2006	ELN	ORPHA:904
HP:0005105	Abnormal nasal morphology	2006	ELN	OMIM:194050
HP:0005105	Abnormal nasal morphology	3211	HOXB1	OMIM:614744
HP:0005105	Abnormal nasal morphology	84720	PIGO	OMIM:614749
HP:0005105	Abnormal nasal morphology	81031	SLC2A10	ORPHA:3342
HP:0005105	Abnormal nasal morphology	54499	TMCO1	OMIM:213980
HP:0005105	Abnormal nasal morphology	54499	TMCO1	ORPHA:1394
HP:0005105	Abnormal nasal morphology	9719	ADAMTSL2	OMIM:231050
HP:0005105	Abnormal nasal morphology	93210	PGAP3	OMIM:615716
HP:0005105	Abnormal nasal morphology	4094	MAF	ORPHA:1272
HP:0005105	Abnormal nasal morphology	4094	MAF	OMIM:601088
HP:0005105	Abnormal nasal morphology	5159	PDGFRB	OMIM:601812
HP:0005105	Abnormal nasal morphology	3845	KRAS	ORPHA:3339
HP:0005105	Abnormal nasal morphology	3845	KRAS	ORPHA:1340
HP:0005105	Abnormal nasal morphology	3845	KRAS	OMIM:609942
HP:0005105	Abnormal nasal morphology	51322	WAC	ORPHA:284169
HP:0005105	Abnormal nasal morphology	55275	VPS53	OMIM:615851
HP:0005105	Abnormal nasal morphology	1302	COL11A2	OMIM:614524
HP:0005105	Abnormal nasal morphology	1836	SLC26A2	ORPHA:93298
HP:0005105	Abnormal nasal morphology	80324	PUS1	ORPHA:2598
HP:0005105	Abnormal nasal morphology	51067	YARS2	ORPHA:2598
HP:0005105	Abnormal nasal morphology	701	BUB1B	OMIM:257300
HP:0005105	Abnormal nasal morphology	5631	PRPS1	OMIM:300661
HP:0005105	Abnormal nasal morphology	51025	PAM16	OMIM:613320
HP:0005105	Abnormal nasal morphology	51053	GMNN	OMIM:616835
HP:0005105	Abnormal nasal morphology	7407	VARS1	OMIM:617802
HP:0005105	Abnormal nasal morphology	6664	SOX11	OMIM:615866
HP:0005105	Abnormal nasal morphology	6664	SOX11	ORPHA:1465
HP:0005105	Abnormal nasal morphology	10075	HUWE1	OMIM:309590
HP:0005105	Abnormal nasal morphology	91949	COG7	OMIM:608779
HP:0005105	Abnormal nasal morphology	2245	FGD1	OMIM:305400
HP:0005105	Abnormal nasal morphology	8243	SMC1A	OMIM:301044
HP:0005105	Abnormal nasal morphology	8243	SMC1A	ORPHA:199
HP:0005105	Abnormal nasal morphology	22856	CHSY1	ORPHA:363417
HP:0005105	Abnormal nasal morphology	23394	ADNP	OMIM:615873
HP:0005105	Abnormal nasal morphology	546	ATRX	OMIM:301040
HP:0005105	Abnormal nasal morphology	79650	USB1	OMIM:604173
HP:0005105	Abnormal nasal morphology	113179	ADAT3	ORPHA:363528
HP:0005105	Abnormal nasal morphology	84162	BLTP1	OMIM:617822
HP:0005105	Abnormal nasal morphology	3313	HSPA9	OMIM:616854
HP:0005105	Abnormal nasal morphology	3767	KCNJ11	ORPHA:79134
HP:0005105	Abnormal nasal morphology	79731	NARS2	ORPHA:79134
HP:0005105	Abnormal nasal morphology	6833	ABCC8	ORPHA:79134
HP:0005105	Abnormal nasal morphology	10269	ZMPSTE24	ORPHA:90154
HP:0005105	Abnormal nasal morphology	10269	ZMPSTE24	OMIM:608612
HP:0005105	Abnormal nasal morphology	389827	MYMK	ORPHA:1358
HP:0005105	Abnormal nasal morphology	101929726	MYMX	ORPHA:1358
HP:0005105	Abnormal nasal morphology	6597	SMARCA4	ORPHA:1465
HP:0005105	Abnormal nasal morphology	6598	SMARCB1	ORPHA:1465
HP:0005105	Abnormal nasal morphology	8289	ARID1A	ORPHA:1465
HP:0005105	Abnormal nasal morphology	5977	DPF2	ORPHA:1465
HP:0005105	Abnormal nasal morphology	6601	SMARCC2	ORPHA:1465
HP:0005105	Abnormal nasal morphology	6602	SMARCD1	ORPHA:1465
HP:0005105	Abnormal nasal morphology	57492	ARID1B	ORPHA:1465
HP:0005105	Abnormal nasal morphology	196528	ARID2	ORPHA:1465
HP:0005105	Abnormal nasal morphology	6605	SMARCE1	ORPHA:1465
HP:0005105	Abnormal nasal morphology	27315	PGAP2	OMIM:614207
HP:0005105	Abnormal nasal morphology	5604	MAP2K1	ORPHA:1340
HP:0005105	Abnormal nasal morphology	5605	MAP2K2	ORPHA:1340
HP:0005105	Abnormal nasal morphology	259232	NALCN	OMIM:615419
HP:0005105	Abnormal nasal morphology	197131	UBR1	ORPHA:2315
HP:0005105	Abnormal nasal morphology	5422	POLA1	OMIM:301030
HP:0005105	Abnormal nasal morphology	5745	PTH1R	ORPHA:50945
HP:0005105	Abnormal nasal morphology	84188	FAR1	ORPHA:438178
HP:0005105	Abnormal nasal morphology	8985	PLOD3	OMIM:612394
HP:0005105	Abnormal nasal morphology	25	ABL1	OMIM:617602
HP:0005105	Abnormal nasal morphology	2475	MTOR	OMIM:616638
HP:0005105	Abnormal nasal morphology	6638	SNRPN	ORPHA:177907
HP:0005105	Abnormal nasal morphology	2313	FLI1	ORPHA:2308
HP:0005105	Abnormal nasal morphology	60	ACTB	OMIM:243310
HP:0005105	Abnormal nasal morphology	23476	BRD4	ORPHA:199
HP:0005105	Abnormal nasal morphology	9126	SMC3	ORPHA:199
HP:0005105	Abnormal nasal morphology	25836	NIPBL	ORPHA:199
HP:0005105	Abnormal nasal morphology	55869	HDAC8	ORPHA:199
HP:0005105	Abnormal nasal morphology	10664	CTCF	ORPHA:363611
HP:0005105	Abnormal nasal morphology	25782	RAB3GAP2	OMIM:614225
HP:0005105	Abnormal nasal morphology	25782	RAB3GAP2	ORPHA:2510
HP:0005105	Abnormal nasal morphology	22931	RAB18	OMIM:614222
HP:0005105	Abnormal nasal morphology	22931	RAB18	ORPHA:2510
HP:0005105	Abnormal nasal morphology	4337	MOCS1	OMIM:252150
HP:0005105	Abnormal nasal morphology	29957	SLC25A24	OMIM:612289
HP:0005105	Abnormal nasal morphology	25885	POLR1A	ORPHA:1200
HP:0005105	Abnormal nasal morphology	10907	TXNL4A	ORPHA:1200
HP:0005105	Abnormal nasal morphology	4659	PPP1R12A	OMIM:618820
HP:0005105	Abnormal nasal morphology	4329	ALDH6A1	OMIM:614105
HP:0005105	Abnormal nasal morphology	8405	SPOP	OMIM:618828
HP:0005105	Abnormal nasal morphology	23545	ATP6V0A2	OMIM:219200
HP:0005105	Abnormal nasal morphology	23545	ATP6V0A2	ORPHA:357074
HP:0005105	Abnormal nasal morphology	4893	NRAS	OMIM:137550
HP:0005105	Abnormal nasal morphology	3265	HRAS	OMIM:137550
HP:0005105	Abnormal nasal morphology	9702	CEP57	OMIM:614114
HP:0005105	Abnormal nasal morphology	202018	TAPT1	OMIM:616897
HP:0005105	Abnormal nasal morphology	55704	CCDC88A	OMIM:617507
HP:0005105	Abnormal nasal morphology	54676	GTPBP2	OMIM:617988
HP:0005105	Abnormal nasal morphology	126792	B3GALT6	ORPHA:536467
HP:0005105	Abnormal nasal morphology	5331	PLCB3	OMIM:618961
HP:0005105	Abnormal nasal morphology	9320	TRIP12	OMIM:617752
HP:0005105	Abnormal nasal morphology	523	ATP6V1A	ORPHA:357074
HP:0005105	Abnormal nasal morphology	529	ATP6V1E1	ORPHA:357074
HP:0005105	Abnormal nasal morphology	29920	PYCR2	OMIM:616420
HP:0005105	Abnormal nasal morphology	55023	PHIP	OMIM:617991
HP:0005105	Abnormal nasal morphology	650	BMP2	OMIM:617877
HP:0005105	Abnormal nasal morphology	7476	WNT7A	ORPHA:2879
HP:0005105	Abnormal nasal morphology	5449	POU1F1	OMIM:613038
HP:0005105	Abnormal nasal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0005105	Abnormal nasal morphology	128637	TBC1D20	ORPHA:2510
HP:0005105	Abnormal nasal morphology	26123	TCTN3	ORPHA:2753
HP:0005105	Abnormal nasal morphology	11141	IL1RAPL1	OMIM:300143
HP:0005105	Abnormal nasal morphology	1806	DPYD	ORPHA:293948
HP:0005105	Abnormal nasal morphology	92935	MARS2	OMIM:616430
HP:0005105	Abnormal nasal morphology	22827	PUF60	OMIM:615583
HP:0005105	Abnormal nasal morphology	8398	PLA2G6	OMIM:256600
HP:0005105	Abnormal nasal morphology	406932	MIR140	OMIM:618618
HP:0005105	Abnormal nasal morphology	58499	ZNF462	OMIM:618619
HP:0005105	Abnormal nasal morphology	9990	SLC12A6	OMIM:218000
HP:0005105	Abnormal nasal morphology	1947	EFNB1	ORPHA:1520
HP:0005105	Abnormal nasal morphology	219844	HYLS1	OMIM:236680
HP:0005105	Abnormal nasal morphology	57688	ZSWIM6	OMIM:603671
HP:0005105	Abnormal nasal morphology	9361	LONP1	ORPHA:1458
HP:0005105	Abnormal nasal morphology	56172	ANKH	OMIM:123000
HP:0005105	Abnormal nasal morphology	2033	EP300	OMIM:180849
HP:0005105	Abnormal nasal morphology	56915	EXOSC5	OMIM:619576
HP:0005105	Abnormal nasal morphology	4841	NONO	OMIM:300967
HP:0005105	Abnormal nasal morphology	5053	PAH	ORPHA:2209
HP:0005105	Abnormal nasal morphology	4763	NF1	ORPHA:139474
HP:0005105	Abnormal nasal morphology	124590	USH1G	OMIM:606943
HP:0005105	Abnormal nasal morphology	9241	NOG	OMIM:186500
HP:0005105	Abnormal nasal morphology	10262	SF3B4	ORPHA:245
HP:0005105	Abnormal nasal morphology	4487	MSX1	ORPHA:141291
HP:0005105	Abnormal nasal morphology	5818	NECTIN1	ORPHA:141291
HP:0005105	Abnormal nasal morphology	3664	IRF6	ORPHA:141291
HP:0005105	Abnormal nasal morphology	117581	TWIST2	OMIM:200110
HP:0005105	Abnormal nasal morphology	894	CCND2	ORPHA:83473
HP:0005105	Abnormal nasal morphology	5296	PIK3R2	ORPHA:83473
HP:0005105	Abnormal nasal morphology	10000	AKT3	ORPHA:83473
HP:0005105	Abnormal nasal morphology	2067	ERCC1	ORPHA:1466
HP:0005105	Abnormal nasal morphology	2074	ERCC6	ORPHA:1466
HP:0005105	Abnormal nasal morphology	10584	COLEC10	ORPHA:293843
HP:0005105	Abnormal nasal morphology	5648	MASP1	ORPHA:293843
HP:0005105	Abnormal nasal morphology	54796	BNC2	ORPHA:93110
HP:0005105	Abnormal nasal morphology	4047	LSS	ORPHA:2850
HP:0005105	Abnormal nasal morphology	197	AHSG	ORPHA:2850
HP:0005105	Abnormal nasal morphology	3694	ITGB6	ORPHA:2850
HP:0005105	Abnormal nasal morphology	57192	MCOLN1	ORPHA:578
HP:0005105	Abnormal nasal morphology	2702	GJA5	ORPHA:3303
HP:0005105	Abnormal nasal morphology	1482	NKX2-5	ORPHA:3303
HP:0005105	Abnormal nasal morphology	137814	NKX2-6	ORPHA:3303
HP:0005105	Abnormal nasal morphology	23414	ZFPM2	ORPHA:3303
HP:0005105	Abnormal nasal morphology	3791	KDR	ORPHA:3303
HP:0005105	Abnormal nasal morphology	2627	GATA6	ORPHA:3303
HP:0005105	Abnormal nasal morphology	2657	GDF1	ORPHA:3303
HP:0005105	Abnormal nasal morphology	182	JAG1	ORPHA:3303
HP:0005105	Abnormal nasal morphology	6899	TBX1	ORPHA:3303
HP:0005105	Abnormal nasal morphology	140628	GATA5	ORPHA:3303
HP:0005105	Abnormal nasal morphology	2324	FLT4	ORPHA:3303
HP:0005105	Abnormal nasal morphology	10370	CITED2	ORPHA:3303
HP:0005105	Abnormal nasal morphology	55209	SETD5	ORPHA:404440
HP:0005105	Abnormal nasal morphology	26038	CHD5	OMIM:619873
HP:0005105	Abnormal nasal morphology	1139	CHRNA7	ORPHA:199318
HP:0005105	Abnormal nasal morphology	5530	PPP3CA	OMIM:617711
HP:0005105	Abnormal nasal morphology	201163	FLCN	OMIM:610883
HP:0005105	Abnormal nasal morphology	7703	PCGF2	OMIM:618371
HP:0005105	Abnormal nasal morphology	5567	PRKACB	OMIM:619143
HP:0005105	Abnormal nasal morphology	8294	H4C9	OMIM:619951
HP:0005105	Abnormal nasal morphology	28981	IFT81	OMIM:617895
HP:0005105	Abnormal nasal morphology	50651	SLC45A1	OMIM:617532
HP:0005105	Abnormal nasal morphology	23135	KDM6B	OMIM:618505
HP:0005105	Abnormal nasal morphology	6228	RPS23	OMIM:617412
HP:0005105	Abnormal nasal morphology	7360	UGP2	OMIM:618744
HP:0005105	Abnormal nasal morphology	5361	PLXNA1	OMIM:619955
HP:0005105	Abnormal nasal morphology	8942	KYNU	OMIM:617661
HP:0005105	Abnormal nasal morphology	27245	AHDC1	ORPHA:412069
HP:0005105	Abnormal nasal morphology	27245	AHDC1	OMIM:615829
HP:0005105	Abnormal nasal morphology	55636	CHD7	ORPHA:138
HP:0005105	Abnormal nasal morphology	55636	CHD7	ORPHA:432
HP:0005105	Abnormal nasal morphology	9723	SEMA3E	ORPHA:138
HP:0005105	Abnormal nasal morphology	7252	TSHB	ORPHA:90674
HP:0005105	Abnormal nasal morphology	7252	TSHB	OMIM:275100
HP:0005105	Abnormal nasal morphology	79029	AFG2B	OMIM:619616
HP:0005105	Abnormal nasal morphology	5191	PEX7	OMIM:215100
HP:0005105	Abnormal nasal morphology	81794	ADAMTS10	OMIM:277600
HP:0005105	Abnormal nasal morphology	3043	HBB	ORPHA:231214
HP:0005105	Abnormal nasal morphology	3043	HBB	ORPHA:231226
HP:0005105	Abnormal nasal morphology	8363	H4C11	OMIM:619759
HP:0005105	Abnormal nasal morphology	286	ANK1	ORPHA:251066
HP:0005105	Abnormal nasal morphology	3373	HYAL1	OMIM:601492
HP:0005105	Abnormal nasal morphology	775	CACNA1C	OMIM:601005
HP:0005105	Abnormal nasal morphology	775	CACNA1C	OMIM:620029
HP:0005105	Abnormal nasal morphology	23499	MACF1	OMIM:618325
HP:0005105	Abnormal nasal morphology	2778	GNAS	ORPHA:79443
HP:0005105	Abnormal nasal morphology	2778	GNAS	ORPHA:79444
HP:0005105	Abnormal nasal morphology	2778	GNAS	ORPHA:94089
HP:0005105	Abnormal nasal morphology	2778	GNAS	OMIM:612463
HP:0005105	Abnormal nasal morphology	2778	GNAS	OMIM:612462
HP:0005105	Abnormal nasal morphology	2778	GNAS	OMIM:103580
HP:0005105	Abnormal nasal morphology	8813	DPM1	ORPHA:79322
HP:0005105	Abnormal nasal morphology	8813	DPM1	OMIM:608799
HP:0005105	Abnormal nasal morphology	56160	NSMCE3	OMIM:617241
HP:0005105	Abnormal nasal morphology	1917	EEF1A2	OMIM:616393
HP:0005105	Abnormal nasal morphology	6654	SOS1	OMIM:610733
HP:0005105	Abnormal nasal morphology	1801	DPH1	ORPHA:459061
HP:0005105	Abnormal nasal morphology	1801	DPH1	OMIM:616901
HP:0005105	Abnormal nasal morphology	2879	GPX4	OMIM:250220
HP:0005105	Abnormal nasal morphology	81848	SPRY4	ORPHA:432
HP:0005105	Abnormal nasal morphology	128674	PROKR2	ORPHA:432
HP:0005105	Abnormal nasal morphology	60675	PROK2	ORPHA:432
HP:0005105	Abnormal nasal morphology	6870	TACR3	ORPHA:432
HP:0005105	Abnormal nasal morphology	1848	DUSP6	ORPHA:432
HP:0005105	Abnormal nasal morphology	55717	WDR11	ORPHA:432
HP:0005105	Abnormal nasal morphology	9394	HS6ST1	ORPHA:432
HP:0005105	Abnormal nasal morphology	2796	GNRH1	ORPHA:432
HP:0005105	Abnormal nasal morphology	2798	GNRHR	ORPHA:432
HP:0005105	Abnormal nasal morphology	84634	KISS1R	ORPHA:432
HP:0005105	Abnormal nasal morphology	6866	TAC3	ORPHA:432
HP:0005105	Abnormal nasal morphology	8822	FGF17	ORPHA:432
HP:0005105	Abnormal nasal morphology	3814	KISS1	ORPHA:432
HP:0005105	Abnormal nasal morphology	5351	PLOD1	OMIM:225400
HP:0005105	Abnormal nasal morphology	8675	STX16	ORPHA:94089
HP:0005105	Abnormal nasal morphology	59341	TRPV4	OMIM:156530
HP:0005105	Abnormal nasal morphology	59341	TRPV4	OMIM:184252
HP:0005105	Abnormal nasal morphology	59341	TRPV4	ORPHA:2635
HP:0005105	Abnormal nasal morphology	57551	TAOK1	OMIM:619575
HP:0005105	Abnormal nasal morphology	24140	FTSJ1	OMIM:309549
HP:0005105	Abnormal nasal morphology	9509	ADAMTS2	ORPHA:1901
HP:0005105	Abnormal nasal morphology	63931	MRPS14	OMIM:618378
HP:0005105	Abnormal nasal morphology	9451	EIF2AK3	OMIM:226980
HP:0005105	Abnormal nasal morphology	80173	IFT74	OMIM:619582
HP:0005105	Abnormal nasal morphology	54681	P4HTM	OMIM:618493
HP:0005105	Abnormal nasal morphology	7846	TUBA1A	ORPHA:994
HP:0005105	Abnormal nasal morphology	4654	MYOD1	ORPHA:994
HP:0005105	Abnormal nasal morphology	6572	SLC18A3	ORPHA:994
HP:0005105	Abnormal nasal morphology	285489	DOK7	ORPHA:994
HP:0005105	Abnormal nasal morphology	10526	IPO8	OMIM:619472
HP:0005105	Abnormal nasal morphology	348180	CTU2	OMIM:618142
HP:0005105	Abnormal nasal morphology	5290	PIK3CA	OMIM:602501
HP:0005105	Abnormal nasal morphology	5290	PIK3CA	ORPHA:60040
HP:0005105	Abnormal nasal morphology	2222	FDFT1	OMIM:618156
HP:0005105	Abnormal nasal morphology	203068	TUBB	OMIM:156610
HP:0005105	Abnormal nasal morphology	51715	RAB23	OMIM:201000
HP:0005105	Abnormal nasal morphology	57477	SHROOM4	ORPHA:85288
HP:0005105	Abnormal nasal morphology	3295	HSD17B4	OMIM:261515
HP:0005105	Abnormal nasal morphology	55901	THSD1	OMIM:620244
HP:0005105	Abnormal nasal morphology	4668	NAGA	OMIM:609242
HP:0005105	Abnormal nasal morphology	4668	NAGA	ORPHA:79280
HP:0005105	Abnormal nasal morphology	2801	GOLGA2	OMIM:620240
HP:0005105	Abnormal nasal morphology	64802	NMNAT1	OMIM:619260
HP:0005105	Abnormal nasal morphology	51626	DYNC2LI1	OMIM:617088
HP:0005105	Abnormal nasal morphology	27445	PCLO	OMIM:608027
HP:0005105	Abnormal nasal morphology	121340	SP7	OMIM:613849
HP:0005105	Abnormal nasal morphology	1299	COL9A3	OMIM:620022
HP:0005105	Abnormal nasal morphology	80055	PGAP1	OMIM:615802
HP:0005105	Abnormal nasal morphology	50814	NSDHL	OMIM:308050
HP:0005105	Abnormal nasal morphology	4524	MTHFR	ORPHA:563612
HP:0005105	Abnormal nasal morphology	57216	VANGL2	ORPHA:563612
HP:0005105	Abnormal nasal morphology	3070	HELLS	ORPHA:2268
HP:0005105	Abnormal nasal morphology	3070	HELLS	OMIM:616911
HP:0005105	Abnormal nasal morphology	84300	UQCC2	OMIM:615824
HP:0005105	Abnormal nasal morphology	657	BMPR1A	ORPHA:79076
HP:0005105	Abnormal nasal morphology	8022	LHX3	ORPHA:226307
HP:0005105	Abnormal nasal morphology	23345	SYNE1	ORPHA:319332
HP:0005105	Abnormal nasal morphology	3911	LAMA5	OMIM:620076
HP:0005105	Abnormal nasal morphology	10430	TMEM147	OMIM:620075
HP:0005105	Abnormal nasal morphology	2146	EZH2	OMIM:277590
HP:0005105	Abnormal nasal morphology	91252	SLC39A13	OMIM:612350
HP:0005105	Abnormal nasal morphology	55212	BBS7	OMIM:615984
HP:0005105	Abnormal nasal morphology	22907	DHX30	OMIM:617804
HP:0005105	Abnormal nasal morphology	6888	TALDO1	OMIM:606003
HP:0005105	Abnormal nasal morphology	411	ARSB	OMIM:253200
HP:0005105	Abnormal nasal morphology	169792	GLIS3	OMIM:610199
HP:0005105	Abnormal nasal morphology	405753	DUOXA2	ORPHA:95716
HP:0005105	Abnormal nasal morphology	6528	SLC5A5	ORPHA:95716
HP:0005105	Abnormal nasal morphology	7038	TG	ORPHA:95716
HP:0005105	Abnormal nasal morphology	7173	TPO	ORPHA:95716
HP:0005105	Abnormal nasal morphology	389434	IYD	ORPHA:95716
HP:0005105	Abnormal nasal morphology	50506	DUOX2	ORPHA:95716
HP:0005105	Abnormal nasal morphology	1000	CDH2	OMIM:618929
HP:0005105	Abnormal nasal morphology	84342	COG8	OMIM:611182
HP:0005105	Abnormal nasal morphology	5062	PAK2	ORPHA:1571
HP:0005105	Abnormal nasal morphology	9997	SCO2	OMIM:604377
HP:0005105	Abnormal nasal morphology	55180	LINS1	OMIM:614340
HP:0005105	Abnormal nasal morphology	4190	MDH1	OMIM:618959
HP:0005105	Abnormal nasal morphology	5495	PPM1B	ORPHA:163693
HP:0005105	Abnormal nasal morphology	6519	SLC3A1	ORPHA:163693
HP:0005105	Abnormal nasal morphology	9581	PREPL	ORPHA:163693
HP:0005105	Abnormal nasal morphology	79823	CAMKMT	ORPHA:163693
HP:0005105	Abnormal nasal morphology	9469	CHST3	OMIM:245600
HP:0005105	Abnormal nasal morphology	26229	B3GAT3	OMIM:245600
HP:0005105	Abnormal nasal morphology	5307	PITX1	OMIM:119800
HP:0005105	Abnormal nasal morphology	84148	KAT8	OMIM:618974
HP:0005105	Abnormal nasal morphology	25871	NEPRO	OMIM:618853
HP:0005105	Abnormal nasal morphology	6929	TCF3	OMIM:619824
HP:0005105	Abnormal nasal morphology	2108	ETFA	OMIM:231680
HP:0005105	Abnormal nasal morphology	2109	ETFB	OMIM:231680
HP:0005105	Abnormal nasal morphology	2110	ETFDH	OMIM:231680
HP:0005105	Abnormal nasal morphology	176	ACAN	ORPHA:171866
HP:0005105	Abnormal nasal morphology	176	ACAN	OMIM:612813
HP:0005105	Abnormal nasal morphology	6650	CAPN15	OMIM:619318
HP:0005105	Abnormal nasal morphology	79228	THOC6	ORPHA:363444
HP:0005105	Abnormal nasal morphology	79228	THOC6	OMIM:613680
HP:0005105	Abnormal nasal morphology	7707	ZNF148	OMIM:617260
HP:0005105	Abnormal nasal morphology	3021	H3-3B	OMIM:619721
HP:0005105	Abnormal nasal morphology	56098	PCDHGC4	OMIM:619880
HP:0005105	Abnormal nasal morphology	29072	SETD2	OMIM:620157
HP:0005105	Abnormal nasal morphology	29072	SETD2	OMIM:620155
HP:0005105	Abnormal nasal morphology	57082	KNL1	OMIM:604321
HP:0005105	Abnormal nasal morphology	6904	TBCD	OMIM:617193
HP:0005105	Abnormal nasal morphology	51780	KDM3B	OMIM:618846
HP:0005105	Abnormal nasal morphology	7994	KAT6A	OMIM:616268
HP:0005105	Abnormal nasal morphology	6261	RYR1	OMIM:619542
HP:0005105	Abnormal nasal morphology	3188	HNRNPH2	OMIM:300986
HP:0005105	Abnormal nasal morphology	57178	ZMIZ1	OMIM:618659
HP:0005105	Abnormal nasal morphology	7319	UBE2A	ORPHA:163956
HP:0005105	Abnormal nasal morphology	1499	CTNNB1	ORPHA:404473
HP:0005105	Abnormal nasal morphology	2690	GHR	ORPHA:633
HP:0005105	Abnormal nasal morphology	340419	RSPO2	ORPHA:3301
HP:0005105	Abnormal nasal morphology	10735	STAG2	OMIM:301043
HP:0005105	Abnormal nasal morphology	23347	SMCHD1	OMIM:603457
HP:0005105	Abnormal nasal morphology	8812	CCNK	OMIM:618147
HP:0005105	Abnormal nasal morphology	284058	KANSL1	ORPHA:363958
HP:0005105	Abnormal nasal morphology	284058	KANSL1	ORPHA:363965
HP:0005105	Abnormal nasal morphology	23461	ABCA5	OMIM:135400
HP:0005105	Abnormal nasal morphology	387	RHOA	OMIM:618727
HP:0005105	Abnormal nasal morphology	79005	SCNM1	OMIM:620107
HP:0005105	Abnormal nasal morphology	6513	SLC2A1	ORPHA:1942
HP:0005105	Abnormal nasal morphology	8831	SYNGAP1	ORPHA:1942
HP:0005105	Abnormal nasal morphology	1173	AP2M1	ORPHA:1942
HP:0005105	Abnormal nasal morphology	6323	SCN1A	ORPHA:1942
HP:0005105	Abnormal nasal morphology	1106	CHD2	ORPHA:1942
HP:0005105	Abnormal nasal morphology	6529	SLC6A1	ORPHA:1942
HP:0005105	Abnormal nasal morphology	207	AKT1	ORPHA:744
HP:0005105	Abnormal nasal morphology	2131	EXT1	ORPHA:502
HP:0005105	Abnormal nasal morphology	7227	TRPS1	ORPHA:502
HP:0005105	Abnormal nasal morphology	3756	KCNH1	OMIM:611816
HP:0005105	Abnormal nasal morphology	3756	KCNH1	ORPHA:420561
HP:0005105	Abnormal nasal morphology	9968	MED12	ORPHA:293707
HP:0005105	Abnormal nasal morphology	26057	ANKRD17	OMIM:619504
HP:0005105	Abnormal nasal morphology	54903	MKS1	OMIM:249000
HP:0005105	Abnormal nasal morphology	64324	NSD1	OMIM:117550
HP:0005105	Abnormal nasal morphology	79848	CSPP1	OMIM:615636
HP:0005105	Abnormal nasal morphology	23007	PLCH1	ORPHA:93925
HP:0005105	Abnormal nasal morphology	7473	WNT3	OMIM:273395
HP:0005105	Abnormal nasal morphology	157570	ESCO2	OMIM:268300
HP:0005105	Abnormal nasal morphology	1954	MEGF8	OMIM:614976
HP:0005105	Abnormal nasal morphology	3763	KCNJ6	ORPHA:435628
HP:0005105	Abnormal nasal morphology	3763	KCNJ6	OMIM:614098
HP:0005105	Abnormal nasal morphology	5727	PTCH1	OMIM:610828
HP:0005105	Abnormal nasal morphology	2068	ERCC2	ORPHA:910
HP:0005105	Abnormal nasal morphology	7507	XPA	ORPHA:910
HP:0005105	Abnormal nasal morphology	2071	ERCC3	ORPHA:910
HP:0005105	Abnormal nasal morphology	7508	XPC	ORPHA:910
HP:0005105	Abnormal nasal morphology	1643	DDB2	ORPHA:910
HP:0005105	Abnormal nasal morphology	2072	ERCC4	ORPHA:910
HP:0005105	Abnormal nasal morphology	2073	ERCC5	ORPHA:910
HP:0005105	Abnormal nasal morphology	8367	H4C5	OMIM:619950
HP:0005105	Abnormal nasal morphology	23404	EXOSC2	OMIM:617763
HP:0005105	Abnormal nasal morphology	60529	ALX4	OMIM:613451
HP:0005105	Abnormal nasal morphology	5286	PIK3C2A	OMIM:618440
HP:0005105	Abnormal nasal morphology	5286	PIK3C2A	ORPHA:557003
HP:0005105	Abnormal nasal morphology	51109	RDH11	ORPHA:436245
HP:0005105	Abnormal nasal morphology	9759	HDAC4	ORPHA:1001
HP:0005105	Abnormal nasal morphology	10283	CWC27	OMIM:250410
HP:0005105	Abnormal nasal morphology	10283	CWC27	ORPHA:166035
HP:0005105	Abnormal nasal morphology	150468	CKAP2L	ORPHA:3255
HP:0005105	Abnormal nasal morphology	54084	TSPEAR	OMIM:618180
HP:0005105	Abnormal nasal morphology	23221	RHOBTB2	OMIM:618004
HP:0005105	Abnormal nasal morphology	56006	SMG9	OMIM:619995
HP:0005105	Abnormal nasal morphology	23483	TGDS	OMIM:616145
HP:0005105	Abnormal nasal morphology	23019	CNOT1	ORPHA:556955
HP:0005105	Abnormal nasal morphology	3479	IGF1	ORPHA:73272
HP:0005105	Abnormal nasal morphology	26235	FBXL4	OMIM:615471
HP:0005105	Abnormal nasal morphology	6777	STAT5B	OMIM:245590
HP:0005105	Abnormal nasal morphology	126695	KDF1	OMIM:617337
HP:0005105	Abnormal nasal morphology	85358	SHANK3	OMIM:606232
HP:0005105	Abnormal nasal morphology	3339	HSPG2	OMIM:255800
HP:0005105	Abnormal nasal morphology	10682	EBP	OMIM:302960
HP:0005105	Abnormal nasal morphology	4792	NFKBIA	OMIM:612132
HP:0005105	Abnormal nasal morphology	3559	IL2RA	OMIM:606367
HP:0005105	Abnormal nasal morphology	2296	FOXC1	OMIM:602482
HP:0005105	Abnormal nasal morphology	50964	SOST	OMIM:122860
HP:0005105	Abnormal nasal morphology	257	ALX3	OMIM:136760
HP:0005105	Abnormal nasal morphology	7030	TFE3	OMIM:301066
HP:0005105	Abnormal nasal morphology	9496	TBX4	ORPHA:261279
HP:0005105	Abnormal nasal morphology	8092	ALX1	ORPHA:306542
HP:0005105	Abnormal nasal morphology	81788	NUAK2	OMIM:619452
HP:0005105	Abnormal nasal morphology	158326	FREM1	ORPHA:217266
HP:0005105	Abnormal nasal morphology	158326	FREM1	OMIM:608980
HP:0005105	Abnormal nasal morphology	26012	NSMF	OMIM:614838
HP:0005105	Abnormal nasal morphology	8550	MAPKAPK5	OMIM:619869
HP:0005105	Abnormal nasal morphology	5566	PRKACA	OMIM:619142
HP:0005105	Abnormal nasal morphology	1822	ATN1	OMIM:618494
HP:0005105	Abnormal nasal morphology	7043	TGFB3	OMIM:615582
HP:0005105	Abnormal nasal morphology	9896	FIG4	ORPHA:3472
HP:0005105	Abnormal nasal morphology	55697	VAC14	ORPHA:3472
HP:0005105	Abnormal nasal morphology	57231	SNX14	OMIM:616354
HP:0005105	Abnormal nasal morphology	57231	SNX14	ORPHA:397709
HP:0005105	Abnormal nasal morphology	63035	BCORL1	OMIM:301029
HP:0005105	Abnormal nasal morphology	51111	KMT5B	OMIM:617788
HP:0005105	Abnormal nasal morphology	23040	MYT1L	OMIM:616521
HP:0005105	Abnormal nasal morphology	8239	USP9X	ORPHA:480880
HP:0005105	Abnormal nasal morphology	526	ATP6V1B2	ORPHA:79500
HP:0005105	Abnormal nasal morphology	57465	TBC1D24	ORPHA:79500
HP:0005105	Abnormal nasal morphology	10943	MSL3	OMIM:301032
HP:0005105	Abnormal nasal morphology	6134	RPL10	ORPHA:459070
HP:0005105	Abnormal nasal morphology	23512	SUZ12	OMIM:618786
HP:0005105	Abnormal nasal morphology	29081	METTL5	OMIM:618665
HP:0005105	Abnormal nasal morphology	11128	POLR3A	ORPHA:3455
HP:0005105	Abnormal nasal morphology	9179	AP4M1	OMIM:612936
HP:0005105	Abnormal nasal morphology	7169	TPM2	OMIM:108120
HP:0005105	Abnormal nasal morphology	2186	BPTF	OMIM:617755
HP:0005105	Abnormal nasal morphology	5700	PSMC1	OMIM:620071
HP:0005105	Abnormal nasal morphology	10801	SEPTIN9	OMIM:162100
HP:0005105	Abnormal nasal morphology	7317	UBA1	OMIM:301054
HP:0005105	Abnormal nasal morphology	340061	STING1	OMIM:615934
HP:0005105	Abnormal nasal morphology	27019	DNAI1	OMIM:244400
HP:0005105	Abnormal nasal morphology	27019	DNAI1	ORPHA:244
HP:0005105	Abnormal nasal morphology	25981	DNAH1	ORPHA:244
HP:0005105	Abnormal nasal morphology	115948	ODAD3	ORPHA:244
HP:0005105	Abnormal nasal morphology	115948	ODAD3	OMIM:616037
HP:0005105	Abnormal nasal morphology	54768	HYDIN	ORPHA:244
HP:0005105	Abnormal nasal morphology	54768	HYDIN	OMIM:608647
HP:0005105	Abnormal nasal morphology	352909	DNAAF3	ORPHA:244
HP:0005105	Abnormal nasal morphology	352909	DNAAF3	OMIM:606763
HP:0005105	Abnormal nasal morphology	27148	STK36	ORPHA:244
HP:0005105	Abnormal nasal morphology	51314	NME8	ORPHA:244
HP:0005105	Abnormal nasal morphology	92749	DRC1	ORPHA:244
HP:0005105	Abnormal nasal morphology	54970	TTC12	ORPHA:244
HP:0005105	Abnormal nasal morphology	152110	NEK10	ORPHA:244
HP:0005105	Abnormal nasal morphology	8481	OFD1	ORPHA:244
HP:0005105	Abnormal nasal morphology	2302	FOXJ1	ORPHA:244
HP:0005105	Abnormal nasal morphology	221421	RSPH9	ORPHA:244
HP:0005105	Abnormal nasal morphology	85478	CCDC65	ORPHA:244
HP:0005105	Abnormal nasal morphology	55036	CCDC40	ORPHA:244
HP:0005105	Abnormal nasal morphology	55036	CCDC40	OMIM:613808
HP:0005105	Abnormal nasal morphology	51364	ZMYND10	ORPHA:244
HP:0005105	Abnormal nasal morphology	51364	ZMYND10	OMIM:615444
HP:0005105	Abnormal nasal morphology	64446	DNAI2	ORPHA:244
HP:0005105	Abnormal nasal morphology	6674	SPAG1	ORPHA:244
HP:0005105	Abnormal nasal morphology	83544	DNAL1	ORPHA:244
HP:0005105	Abnormal nasal morphology	89765	RSPH1	ORPHA:244
HP:0005105	Abnormal nasal morphology	83538	ODAD4	ORPHA:244
HP:0005105	Abnormal nasal morphology	83538	ODAD4	OMIM:617092
HP:0005105	Abnormal nasal morphology	200373	CFAP221	ORPHA:244
HP:0005105	Abnormal nasal morphology	374407	DNAJB13	ORPHA:244
HP:0005105	Abnormal nasal morphology	55172	DNAAF2	ORPHA:244
HP:0005105	Abnormal nasal morphology	161582	DNAAF4	ORPHA:244
HP:0005105	Abnormal nasal morphology	2622	GAS8	ORPHA:244
HP:0005105	Abnormal nasal morphology	23639	DNAAF11	ORPHA:244
HP:0005105	Abnormal nasal morphology	23639	DNAAF11	OMIM:614935
HP:0005105	Abnormal nasal morphology	345895	RSPH4A	ORPHA:244
HP:0005105	Abnormal nasal morphology	54919	DNAAF5	ORPHA:244
HP:0005105	Abnormal nasal morphology	6103	RPGR	ORPHA:244
HP:0005105	Abnormal nasal morphology	388389	CCDC103	ORPHA:244
HP:0005105	Abnormal nasal morphology	93233	ODAD1	ORPHA:244
HP:0005105	Abnormal nasal morphology	55130	ODAD2	ORPHA:244
HP:0005105	Abnormal nasal morphology	1767	DNAH5	ORPHA:244
HP:0005105	Abnormal nasal morphology	83861	RSPH3	ORPHA:244
HP:0005105	Abnormal nasal morphology	345643	MCIDAS	ORPHA:244
HP:0005105	Abnormal nasal morphology	345643	MCIDAS	OMIM:618695
HP:0005105	Abnormal nasal morphology	56683	CFAP298	ORPHA:244
HP:0005105	Abnormal nasal morphology	79925	SPEF2	ORPHA:244
HP:0005105	Abnormal nasal morphology	10309	CCNO	ORPHA:244
HP:0005105	Abnormal nasal morphology	115399	LRRC56	ORPHA:244
HP:0005105	Abnormal nasal morphology	139212	DNAAF6	ORPHA:244
HP:0005105	Abnormal nasal morphology	123872	DNAAF1	ORPHA:244
HP:0005105	Abnormal nasal morphology	85016	CFAP300	ORPHA:244
HP:0005105	Abnormal nasal morphology	339829	CCDC39	ORPHA:244
HP:0005105	Abnormal nasal morphology	8701	DNAH11	ORPHA:244
HP:0005105	Abnormal nasal morphology	1770	DNAH9	ORPHA:244
HP:0005105	Abnormal nasal morphology	246176	GAS2L2	ORPHA:244
HP:0005105	Abnormal nasal morphology	1893	ECM1	ORPHA:530
HP:0005105	Abnormal nasal morphology	2947	GSTM3	ORPHA:586
HP:0005105	Abnormal nasal morphology	7040	TGFB1	ORPHA:586
HP:0005105	Abnormal nasal morphology	7040	TGFB1	OMIM:219700
HP:0005105	Abnormal nasal morphology	2729	GCLC	ORPHA:586
HP:0005105	Abnormal nasal morphology	1084	CEACAM3	ORPHA:586
HP:0005105	Abnormal nasal morphology	6556	SLC11A1	ORPHA:586
HP:0005105	Abnormal nasal morphology	51164	DCTN4	ORPHA:586
HP:0005105	Abnormal nasal morphology	3783	KCNN4	ORPHA:586
HP:0005105	Abnormal nasal morphology	4282	MIF	ORPHA:586
HP:0005105	Abnormal nasal morphology	1909	EDNRA	ORPHA:586
HP:0005105	Abnormal nasal morphology	6550	SLC9A3	ORPHA:586
HP:0005105	Abnormal nasal morphology	3162	HMOX1	ORPHA:586
HP:0005105	Abnormal nasal morphology	115019	SLC26A9	ORPHA:586
HP:0005105	Abnormal nasal morphology	3077	HFE	ORPHA:586
HP:0005105	Abnormal nasal morphology	11254	SLC6A14	ORPHA:586
HP:0005105	Abnormal nasal morphology	5265	SERPINA1	ORPHA:586
HP:0005105	Abnormal nasal morphology	1080	CFTR	ORPHA:586
HP:0005105	Abnormal nasal morphology	1080	CFTR	OMIM:219700
HP:0005105	Abnormal nasal morphology	22802	CLCA4	ORPHA:586
HP:0005105	Abnormal nasal morphology	4680	CEACAM6	ORPHA:586
HP:0005105	Abnormal nasal morphology	2212	FCGR2A	OMIM:219700
HP:0005105	Abnormal nasal morphology	30009	TBX21	OMIM:208550
HP:0005105	Abnormal nasal morphology	5732	PTGER2	OMIM:208550
HP:0005105	Abnormal nasal morphology	6794	STK11	ORPHA:2869
HP:0005105	Abnormal nasal morphology	6794	STK11	OMIM:175200
HP:0005105	Abnormal nasal morphology	6890	TAP1	OMIM:604571
HP:0005105	Abnormal nasal morphology	6891	TAP2	OMIM:604571
HP:0005105	Abnormal nasal morphology	6892	TAPBP	OMIM:604571
HP:0005105	Abnormal nasal morphology	9094	UNC119	OMIM:615518
HP:0005105	Abnormal nasal morphology	85452	CFAP74	OMIM:620197
HP:0005105	Abnormal nasal morphology	5015	OTX2	ORPHA:990
HP:0005106	Abnormality of the vertebral endplates	1300	COL10A1	ORPHA:174
HP:0005106	Abnormality of the vertebral endplates	1300	COL10A1	OMIM:156500
HP:0005106	Abnormality of the vertebral endplates	3835	KIF22	OMIM:603546
HP:0005106	Abnormality of the vertebral endplates	26137	ZBTB20	ORPHA:3042
HP:0005106	Abnormality of the vertebral endplates	26137	ZBTB20	OMIM:259050
HP:0005106	Abnormality of the vertebral endplates	54	ACP5	OMIM:607944
HP:0005106	Abnormality of the vertebral endplates	84068	SLC10A7	OMIM:618363
HP:0005106	Abnormality of the vertebral endplates	9469	CHST3	OMIM:143095
HP:0005106	Abnormality of the vertebral endplates	10312	TCIRG1	ORPHA:1782
HP:0005106	Abnormality of the vertebral endplates	55315	SLC29A3	ORPHA:1782
HP:0005106	Abnormality of the vertebral endplates	8792	TNFRSF11A	ORPHA:1782
HP:0005106	Abnormality of the vertebral endplates	54187	NANS	OMIM:610442
HP:0005106	Abnormality of the vertebral endplates	92344	GORAB	OMIM:231070
HP:0005106	Abnormality of the vertebral endplates	9060	PAPSS2	OMIM:612847
HP:0005106	Abnormality of the vertebral endplates	25839	COG4	OMIM:618150
HP:0005106	Abnormality of the vertebral endplates	8443	GNPAT	OMIM:222765
HP:0005106	Abnormality of the vertebral endplates	9451	EIF2AK3	OMIM:226980
HP:0005106	Abnormality of the vertebral endplates	100151683	RNU4ATAC	OMIM:616651
HP:0005106	Abnormality of the vertebral endplates	23233	EXOC6B	OMIM:618395
HP:0005106	Abnormality of the vertebral endplates	1311	COMP	OMIM:132400
HP:0005106	Abnormality of the vertebral endplates	91252	SLC39A13	OMIM:612350
HP:0005106	Abnormality of the vertebral endplates	5144	PDE4D	ORPHA:439822
HP:0005106	Abnormality of the vertebral endplates	8838	CCN6	ORPHA:1159
HP:0005106	Abnormality of the vertebral endplates	1297	COL9A1	OMIM:614135
HP:0005106	Abnormality of the vertebral endplates	1297	COL9A1	ORPHA:250984
HP:0005106	Abnormality of the vertebral endplates	1301	COL11A1	ORPHA:250984
HP:0005106	Abnormality of the vertebral endplates	1298	COL9A2	ORPHA:250984
HP:0005106	Abnormality of the vertebral endplates	1299	COL9A3	ORPHA:250984
HP:0005106	Abnormality of the vertebral endplates	84695	LOXL3	ORPHA:250984
HP:0005106	Abnormality of the vertebral endplates	3417	IDH1	ORPHA:99646
HP:0005106	Abnormality of the vertebral endplates	126792	B3GALT6	OMIM:271640
HP:0005106	Abnormality of the vertebral endplates	50964	SOST	OMIM:269500
HP:0005106	Abnormality of the vertebral endplates	1758	DMP1	ORPHA:289176
HP:0005106	Abnormality of the vertebral endplates	5167	ENPP1	ORPHA:289176
HP:0005106	Abnormality of the vertebral endplates	79705	LRRK1	OMIM:615198
HP:0005106	Abnormality of the vertebral endplates	6399	TRAPPC2	ORPHA:93284
HP:0005106	Abnormality of the vertebral endplates	6399	TRAPPC2	OMIM:313400
HP:0005106	Abnormality of the vertebral endplates	2335	FN1	OMIM:184255
HP:0005106	Abnormality of the vertebral endplates	4796	TONSL	ORPHA:93357
HP:0005106	Abnormality of the vertebral endplates	1280	COL2A1	ORPHA:1856
HP:0005106	Abnormality of the vertebral endplates	1186	CLCN7	OMIM:166600
HP:0005106	Abnormality of the vertebral endplates	54808	DYM	ORPHA:239
HP:0005106	Abnormality of the vertebral endplates	4322	MMP13	OMIM:602111
HP:0005106	Abnormality of the vertebral endplates	11128	POLR3A	ORPHA:3455
HP:0005107	Abnormal sacrum morphology	2137	EXTL3	ORPHA:508533
HP:0005107	Abnormal sacrum morphology	10682	EBP	ORPHA:401973
HP:0005107	Abnormal sacrum morphology	10682	EBP	OMIM:300960
HP:0005107	Abnormal sacrum morphology	8367	H4C5	OMIM:619950
HP:0005107	Abnormal sacrum morphology	54892	NCAPG2	OMIM:618460
HP:0005107	Abnormal sacrum morphology	1859	DYRK1A	ORPHA:268261
HP:0005107	Abnormal sacrum morphology	5648	MASP1	OMIM:257920
HP:0005107	Abnormal sacrum morphology	145173	B3GLCT	ORPHA:709
HP:0005107	Abnormal sacrum morphology	6650	CAPN15	OMIM:619318
HP:0005107	Abnormal sacrum morphology	85358	SHANK3	OMIM:606232
HP:0005107	Abnormal sacrum morphology	85358	SHANK3	ORPHA:48652
HP:0005107	Abnormal sacrum morphology	79783	SUGCT	ORPHA:35706
HP:0005107	Abnormal sacrum morphology	91179	SCARF2	OMIM:600920
HP:0005107	Abnormal sacrum morphology	55209	SETD5	OMIM:615761
HP:0005107	Abnormal sacrum morphology	1855	DVL1	OMIM:616331
HP:0005107	Abnormal sacrum morphology	1855	DVL1	ORPHA:3107
HP:0005107	Abnormal sacrum morphology	1855	DVL1	OMIM:180700
HP:0005107	Abnormal sacrum morphology	4953	ODC1	ORPHA:544488
HP:0005107	Abnormal sacrum morphology	4297	KMT2A	OMIM:605130
HP:0005107	Abnormal sacrum morphology	4297	KMT2A	ORPHA:319182
HP:0005107	Abnormal sacrum morphology	2188	FANCF	OMIM:603467
HP:0005107	Abnormal sacrum morphology	1725	DHPS	OMIM:618480
HP:0005107	Abnormal sacrum morphology	6023	RMRP	ORPHA:175
HP:0005107	Abnormal sacrum morphology	56992	KIF15	ORPHA:261323
HP:0005107	Abnormal sacrum morphology	3190	HNRNPK	OMIM:616580
HP:0005107	Abnormal sacrum morphology	57492	ARID1B	OMIM:135900
HP:0005107	Abnormal sacrum morphology	10584	COLEC10	OMIM:248340
HP:0005107	Abnormal sacrum morphology	818	CAMK2G	OMIM:618522
HP:0005107	Abnormal sacrum morphology	284058	KANSL1	ORPHA:363958
HP:0005107	Abnormal sacrum morphology	284058	KANSL1	ORPHA:363965
HP:0005107	Abnormal sacrum morphology	284058	KANSL1	OMIM:610443
HP:0005107	Abnormal sacrum morphology	3899	AFF3	OMIM:619297
HP:0005107	Abnormal sacrum morphology	54496	PRMT7	OMIM:617157
HP:0005107	Abnormal sacrum morphology	7468	NSD2	OMIM:619695
HP:0005107	Abnormal sacrum morphology	7468	NSD2	ORPHA:280
HP:0005107	Abnormal sacrum morphology	7468	NSD2	OMIM:194190
HP:0005107	Abnormal sacrum morphology	9968	MED12	ORPHA:93932
HP:0005107	Abnormal sacrum morphology	9968	MED12	OMIM:305450
HP:0005107	Abnormal sacrum morphology	64359	NXN	ORPHA:1507
HP:0005107	Abnormal sacrum morphology	3209	HOXA13	ORPHA:2438
HP:0005107	Abnormal sacrum morphology	54539	NDUFB11	ORPHA:2556
HP:0005107	Abnormal sacrum morphology	1349	COX7B	ORPHA:2556
HP:0005107	Abnormal sacrum morphology	3052	HCCS	ORPHA:2556
HP:0005107	Abnormal sacrum morphology	1717	DHCR7	OMIM:270400
HP:0005107	Abnormal sacrum morphology	5422	POLA1	OMIM:301030
HP:0005107	Abnormal sacrum morphology	9496	TBX4	ORPHA:261279
HP:0005107	Abnormal sacrum morphology	10815	CPLX1	ORPHA:280
HP:0005107	Abnormal sacrum morphology	10815	CPLX1	OMIM:194190
HP:0005107	Abnormal sacrum morphology	54872	PIGG	ORPHA:280
HP:0005107	Abnormal sacrum morphology	7469	NELFA	ORPHA:280
HP:0005107	Abnormal sacrum morphology	1487	CTBP1	ORPHA:280
HP:0005107	Abnormal sacrum morphology	1487	CTBP1	OMIM:194190
HP:0005107	Abnormal sacrum morphology	3954	LETM1	ORPHA:280
HP:0005107	Abnormal sacrum morphology	3954	LETM1	OMIM:194190
HP:0005107	Abnormal sacrum morphology	80776	B9D2	OMIM:614175
HP:0005107	Abnormal sacrum morphology	51305	KCNK9	ORPHA:166108
HP:0005107	Abnormal sacrum morphology	51305	KCNK9	OMIM:612292
HP:0005107	Abnormal sacrum morphology	2783	GNB2	OMIM:619503
HP:0005107	Abnormal sacrum morphology	79633	FAT4	OMIM:615546
HP:0005107	Abnormal sacrum morphology	8642	DCHS1	OMIM:601390
HP:0005107	Abnormal sacrum morphology	53834	FGFRL1	OMIM:194190
HP:0005107	Abnormal sacrum morphology	10522	DEAF1	OMIM:615828
HP:0005107	Abnormal sacrum morphology	165	AEBP1	ORPHA:536532
HP:0005107	Abnormal sacrum morphology	3981	LIG4	ORPHA:235
HP:0005107	Abnormal sacrum morphology	54888	NSUN2	ORPHA:235
HP:0005107	Abnormal sacrum morphology	10664	CTCF	ORPHA:363611
HP:0005107	Abnormal sacrum morphology	10664	CTCF	OMIM:615502
HP:0005107	Abnormal sacrum morphology	56006	SMG9	OMIM:619995
HP:0005107	Abnormal sacrum morphology	8558	CDK10	OMIM:617694
HP:0005107	Abnormal sacrum morphology	51633	OTUD6B	OMIM:617452
HP:0005107	Abnormal sacrum morphology	51633	OTUD6B	ORPHA:505237
HP:0005107	Abnormal sacrum morphology	1857	DVL3	ORPHA:3107
HP:0005107	Abnormal sacrum morphology	1857	DVL3	OMIM:616894
HP:0005107	Abnormal sacrum morphology	7474	WNT5A	ORPHA:3107
HP:0005107	Abnormal sacrum morphology	7474	WNT5A	OMIM:180700
HP:0005107	Abnormal sacrum morphology	2535	FZD2	ORPHA:3107
HP:0005107	Abnormal sacrum morphology	8239	USP9X	ORPHA:480880
HP:0005107	Abnormal sacrum morphology	8239	USP9X	OMIM:300968
HP:0005107	Abnormal sacrum morphology	6804	STX1A	ORPHA:904
HP:0005107	Abnormal sacrum morphology	7461	CLIP2	ORPHA:904
HP:0005107	Abnormal sacrum morphology	84277	DNAJC30	ORPHA:904
HP:0005107	Abnormal sacrum morphology	8468	FKBP6	ORPHA:904
HP:0005107	Abnormal sacrum morphology	5982	RFC2	ORPHA:904
HP:0005107	Abnormal sacrum morphology	2969	GTF2I	ORPHA:904
HP:0005107	Abnormal sacrum morphology	3984	LIMK1	ORPHA:904
HP:0005107	Abnormal sacrum morphology	9569	GTF2IRD1	ORPHA:904
HP:0005107	Abnormal sacrum morphology	155382	VPS37D	ORPHA:904
HP:0005107	Abnormal sacrum morphology	155368	METTL27	ORPHA:904
HP:0005107	Abnormal sacrum morphology	114049	BUD23	ORPHA:904
HP:0005107	Abnormal sacrum morphology	7458	EIF4H	ORPHA:904
HP:0005107	Abnormal sacrum morphology	84163	GTF2IRD2	ORPHA:904
HP:0005107	Abnormal sacrum morphology	9275	BCL7B	ORPHA:904
HP:0005107	Abnormal sacrum morphology	26608	TBL2	ORPHA:904
HP:0005107	Abnormal sacrum morphology	653361	NCF1	ORPHA:904
HP:0005107	Abnormal sacrum morphology	135886	TMEM270	ORPHA:904
HP:0005107	Abnormal sacrum morphology	51085	MLXIPL	ORPHA:904
HP:0005107	Abnormal sacrum morphology	9031	BAZ1B	ORPHA:904
HP:0005107	Abnormal sacrum morphology	2006	ELN	ORPHA:904
HP:0005107	Abnormal sacrum morphology	6134	RPL10	ORPHA:459070
HP:0005107	Abnormal sacrum morphology	286	ANK1	ORPHA:251066
HP:0005107	Abnormal sacrum morphology	54499	TMCO1	OMIM:213980
HP:0005107	Abnormal sacrum morphology	8405	SPOP	OMIM:618828
HP:0005107	Abnormal sacrum morphology	23137	SMC5	OMIM:620185
HP:0005107	Abnormal sacrum morphology	23405	DICER1	OMIM:618272
HP:0005107	Abnormal sacrum morphology	8314	BAP1	OMIM:619762
HP:0005107	Abnormal sacrum morphology	374879	ZNF699	OMIM:619488
HP:0005107	Abnormal sacrum morphology	51715	RAB23	OMIM:201000
HP:0005107	Abnormal sacrum morphology	64093	SMOC1	OMIM:206920
HP:0005107	Abnormal sacrum morphology	79971	WLS	OMIM:619648
HP:0005107	Abnormal sacrum morphology	6925	TCF4	OMIM:610954
HP:0005107	Abnormal sacrum morphology	3090	HIC1	ORPHA:531
HP:0005107	Abnormal sacrum morphology	5048	PAFAH1B1	ORPHA:531
HP:0005107	Abnormal sacrum morphology	7531	YWHAE	ORPHA:531
HP:0005107	Abnormal sacrum morphology	4123	MAN2C1	OMIM:619775
HP:0005107	Abnormal sacrum morphology	3977	LIFR	ORPHA:3206
HP:0005107	Abnormal sacrum morphology	57479	PRR12	OMIM:619539
HP:0005107	Abnormal sacrum morphology	5718	PSMD12	OMIM:617516
HP:0005107	Abnormal sacrum morphology	55191	NADSYN1	OMIM:618845
HP:0005107	Abnormal sacrum morphology	10225	CD96	ORPHA:1308
HP:0005107	Abnormal sacrum morphology	23299	BICD2	OMIM:618291
HP:0005107	Abnormal sacrum morphology	171023	ASXL1	OMIM:605039
HP:0005107	Abnormal sacrum morphology	3930	LBR	OMIM:215140
HP:0005107	Abnormal sacrum morphology	1836	SLC26A2	OMIM:256050
HP:0005107	Abnormal sacrum morphology	2317	FLNB	OMIM:108721
HP:0005107	Abnormal sacrum morphology	4920	ROR2	OMIM:268310
HP:0005107	Abnormal sacrum morphology	4920	ROR2	OMIM:113000
HP:0005107	Abnormal sacrum morphology	9321	TRIP11	OMIM:200600
HP:0005107	Abnormal sacrum morphology	25886	POC1A	OMIM:614813
HP:0005107	Abnormal sacrum morphology	55120	FANCL	OMIM:614083
HP:0005107	Abnormal sacrum morphology	8626	TP63	OMIM:604292
HP:0005107	Abnormal sacrum morphology	79644	SRD5A3	ORPHA:324737
HP:0005107	Abnormal sacrum morphology	2261	FGFR3	ORPHA:93262
HP:0005107	Abnormal sacrum morphology	4854	NOTCH3	ORPHA:2591
HP:0005107	Abnormal sacrum morphology	5159	PDGFRB	ORPHA:2591
HP:0005107	Abnormal sacrum morphology	6911	TBX6	ORPHA:1797
HP:0005107	Abnormal sacrum morphology	54361	WNT4	ORPHA:3109
HP:0005107	Abnormal sacrum morphology	9573	GDF3	ORPHA:2345
HP:0005107	Abnormal sacrum morphology	392255	GDF6	ORPHA:2345
HP:0005107	Abnormal sacrum morphology	4222	MEOX1	ORPHA:2345
HP:0005107	Abnormal sacrum morphology	860	RUNX2	ORPHA:1452
HP:0005107	Abnormal sacrum morphology	2263	FGFR2	ORPHA:207
HP:0005107	Abnormal sacrum morphology	2077	ERF	ORPHA:207
HP:0005107	Abnormal sacrum morphology	5979	RET	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	8516	ITGA8	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	26281	FGF20	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	2674	GFRA1	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	7484	WNT9B	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	80000	GREB1L	ORPHA:1848
HP:0005107	Abnormal sacrum morphology	3239	HOXD13	ORPHA:887
HP:0005107	Abnormal sacrum morphology	2517	FUCA1	OMIM:230000
HP:0005107	Abnormal sacrum morphology	51025	PAM16	OMIM:613320
HP:0005107	Abnormal sacrum morphology	6872	TAF1	ORPHA:480907
HP:0005107	Abnormal sacrum morphology	6223	RPS19	OMIM:105650
HP:0005107	Abnormal sacrum morphology	5745	PTH1R	ORPHA:79106
HP:0005107	Abnormal sacrum morphology	81839	VANGL1	OMIM:600145
HP:0005107	Abnormal sacrum morphology	81839	VANGL1	OMIM:182940
HP:0005107	Abnormal sacrum morphology	7547	ZIC3	OMIM:306955
HP:0005107	Abnormal sacrum morphology	23498	HAAO	OMIM:617660
HP:0005107	Abnormal sacrum morphology	57216	VANGL2	OMIM:182940
HP:0005107	Abnormal sacrum morphology	6347	CCL2	OMIM:182940
HP:0005107	Abnormal sacrum morphology	6862	TBXT	OMIM:182940
HP:0005107	Abnormal sacrum morphology	6862	TBXT	OMIM:615709
HP:0005107	Abnormal sacrum morphology	80199	FUZ	OMIM:182940
HP:0005107	Abnormal sacrum morphology	4838	NODAL	OMIM:270100
HP:0005107	Abnormal sacrum morphology	2187	FANCB	ORPHA:3412
HP:0005107	Abnormal sacrum morphology	25914	RTTN	ORPHA:468631
HP:0005107	Abnormal sacrum morphology	6899	TBX1	OMIM:188400
HP:0005107	Abnormal sacrum morphology	7476	WNT7A	OMIM:276820
HP:0005107	Abnormal sacrum morphology	2799	GNS	OMIM:252940
HP:0005107	Abnormal sacrum morphology	3106	HLA-B	OMIM:106300
HP:0005107	Abnormal sacrum morphology	5251	PHEX	ORPHA:89936
HP:0005107	Abnormal sacrum morphology	1280	COL2A1	ORPHA:93296
HP:0005107	Abnormal sacrum morphology	168667	BMPER	OMIM:608022
HP:0005107	Abnormal sacrum morphology	3110	MNX1	ORPHA:1552
HP:0005107	Abnormal sacrum morphology	26040	SETBP1	OMIM:269150
HP:0005107	Abnormal sacrum morphology	26040	SETBP1	ORPHA:798
HP:0005107	Abnormal sacrum morphology	64324	NSD1	ORPHA:821
HP:0005107	Abnormal sacrum morphology	29072	SETD2	ORPHA:821
HP:0005107	Abnormal sacrum morphology	10297	APC2	ORPHA:821
HP:0005107	Abnormal sacrum morphology	117581	TWIST2	ORPHA:1807
HP:0005107	Abnormal sacrum morphology	7132	TNFRSF1A	ORPHA:32960
HP:0005107	Abnormal sacrum morphology	1758	DMP1	ORPHA:289176
HP:0005107	Abnormal sacrum morphology	5167	ENPP1	ORPHA:289176
HP:0005108	Abnormal intervertebral disk morphology	9469	CHST3	OMIM:143095
HP:0005108	Abnormal intervertebral disk morphology	9469	CHST3	ORPHA:263463
HP:0005108	Abnormal intervertebral disk morphology	2335	FN1	ORPHA:93315
HP:0005108	Abnormal intervertebral disk morphology	1280	COL2A1	ORPHA:93315
HP:0005108	Abnormal intervertebral disk morphology	1280	COL2A1	OMIM:609162
HP:0005108	Abnormal intervertebral disk morphology	1280	COL2A1	ORPHA:166011
HP:0005108	Abnormal intervertebral disk morphology	6399	TRAPPC2	ORPHA:93284
HP:0005108	Abnormal intervertebral disk morphology	54928	BPNT2	OMIM:614078
HP:0005108	Abnormal intervertebral disk morphology	4509	MT-ATP8	ORPHA:480
HP:0005108	Abnormal intervertebral disk morphology	4567	MT-TL1	ORPHA:480
HP:0005108	Abnormal intervertebral disk morphology	50484	RRM2B	ORPHA:480
HP:0005108	Abnormal intervertebral disk morphology	8036	SHOC2	ORPHA:2701
HP:0005108	Abnormal intervertebral disk morphology	5500	PPP1CB	ORPHA:2701
HP:0005108	Abnormal intervertebral disk morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005108	Abnormal intervertebral disk morphology	134701	RIPPLY2	ORPHA:2311
HP:0005108	Abnormal intervertebral disk morphology	10683	DLL3	ORPHA:2311
HP:0005108	Abnormal intervertebral disk morphology	3955	LFNG	ORPHA:2311
HP:0005108	Abnormal intervertebral disk morphology	84667	HES7	ORPHA:2311
HP:0005108	Abnormal intervertebral disk morphology	145873	MESP2	ORPHA:2311
HP:0005108	Abnormal intervertebral disk morphology	64132	XYLT2	ORPHA:85194
HP:0005108	Abnormal intervertebral disk morphology	51002	TPRKB	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	84942	WDR73	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	55644	OSGEP	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	57122	NUP107	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	10785	WDR4	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	55746	NUP133	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	112858	TP53RK	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	8270	LAGE3	ORPHA:2065
HP:0005108	Abnormal intervertebral disk morphology	4982	TNFRSF11B	ORPHA:1416
HP:0005108	Abnormal intervertebral disk morphology	56172	ANKH	ORPHA:1416
HP:0005108	Abnormal intervertebral disk morphology	3239	HOXD13	ORPHA:887
HP:0005108	Abnormal intervertebral disk morphology	3081	HGD	ORPHA:56
HP:0005108	Abnormal intervertebral disk morphology	4907	NT5E	OMIM:211800
HP:0005108	Abnormal intervertebral disk morphology	1297	COL9A1	OMIM:614135
HP:0005108	Abnormal intervertebral disk morphology	4088	SMAD3	ORPHA:284984
HP:0005108	Abnormal intervertebral disk morphology	4088	SMAD3	OMIM:613795
HP:0005108	Abnormal intervertebral disk morphology	6899	TBX1	OMIM:188400
HP:0005108	Abnormal intervertebral disk morphology	4087	SMAD2	OMIM:619656
HP:0005108	Abnormal intervertebral disk morphology	4000	LMNA	ORPHA:79474
HP:0005108	Abnormal intervertebral disk morphology	4148	MATN3	ORPHA:93311
HP:0005108	Abnormal intervertebral disk morphology	4054	LTBP3	OMIM:601216
HP:0005108	Abnormal intervertebral disk morphology	6885	MAP3K7	OMIM:157800
HP:0005108	Abnormal intervertebral disk morphology	2137	EXTL3	ORPHA:508533
HP:0005108	Abnormal intervertebral disk morphology	79639	TMEM53	OMIM:619727
HP:0005108	Abnormal intervertebral disk morphology	54	ACP5	OMIM:607944
HP:0005108	Abnormal intervertebral disk morphology	1836	SLC26A2	OMIM:256050
HP:0005108	Abnormal intervertebral disk morphology	5331	PLCB3	OMIM:618961
HP:0005108	Abnormal intervertebral disk morphology	59341	TRPV4	ORPHA:93314
HP:0005109	Abnormality of the Achilles tendon	6445	SGCG	ORPHA:353
HP:0005109	Abnormality of the Achilles tendon	23299	BICD2	OMIM:615290
HP:0005109	Abnormality of the Achilles tendon	55906	ZC4H2	OMIM:301041
HP:0005109	Abnormality of the Achilles tendon	2273	FHL1	OMIM:300696
HP:0005109	Abnormality of the Achilles tendon	2273	FHL1	OMIM:300695
HP:0005109	Abnormality of the Achilles tendon	2273	FHL1	ORPHA:98863
HP:0005109	Abnormality of the Achilles tendon	7273	TTN	OMIM:603689
HP:0005109	Abnormality of the Achilles tendon	79147	FKRP	OMIM:606612
HP:0005109	Abnormality of the Achilles tendon	79147	FKRP	ORPHA:370980
HP:0005109	Abnormality of the Achilles tendon	79147	FKRP	OMIM:607155
HP:0005109	Abnormality of the Achilles tendon	51651	PTRH2	OMIM:616263
HP:0005109	Abnormality of the Achilles tendon	51651	PTRH2	ORPHA:456312
HP:0005109	Abnormality of the Achilles tendon	54888	NSUN2	OMIM:611091
HP:0005109	Abnormality of the Achilles tendon	3094	HINT1	ORPHA:324442
HP:0005109	Abnormality of the Achilles tendon	339855	KY	OMIM:617114
HP:0005109	Abnormality of the Achilles tendon	23516	SLC39A14	OMIM:617013
HP:0005109	Abnormality of the Achilles tendon	4010	LMX1B	ORPHA:2614
HP:0005109	Abnormality of the Achilles tendon	79912	PYROXD1	OMIM:617258
HP:0005109	Abnormality of the Achilles tendon	1756	DMD	OMIM:310200
HP:0005109	Abnormality of the Achilles tendon	291	SLC25A4	OMIM:615418
HP:0005109	Abnormality of the Achilles tendon	2010	EMD	OMIM:310300
HP:0005109	Abnormality of the Achilles tendon	2010	EMD	ORPHA:98863
HP:0005109	Abnormality of the Achilles tendon	57679	ALS2	OMIM:607225
HP:0005109	Abnormality of the Achilles tendon	6442	SGCA	ORPHA:62
HP:0005109	Abnormality of the Achilles tendon	4556	MT-TE	ORPHA:2596
HP:0005109	Abnormality of the Achilles tendon	9990	SLC12A6	OMIM:620068
HP:0005109	Abnormality of the Achilles tendon	1292	COL6A2	OMIM:255600
HP:0005109	Abnormality of the Achilles tendon	1292	COL6A2	ORPHA:610
HP:0005109	Abnormality of the Achilles tendon	9499	MYOT	OMIM:609200
HP:0005109	Abnormality of the Achilles tendon	10060	ABCC9	OMIM:619719
HP:0005109	Abnormality of the Achilles tendon	4000	LMNA	OMIM:181350
HP:0005109	Abnormality of the Achilles tendon	4000	LMNA	OMIM:613205
HP:0005109	Abnormality of the Achilles tendon	4000	LMNA	ORPHA:98855
HP:0005109	Abnormality of the Achilles tendon	4000	LMNA	ORPHA:98853
HP:0005109	Abnormality of the Achilles tendon	5339	PLEC	ORPHA:254361
HP:0005109	Abnormality of the Achilles tendon	3714	JAG2	OMIM:619566
HP:0005109	Abnormality of the Achilles tendon	113179	ADAT3	ORPHA:363528
HP:0005109	Abnormality of the Achilles tendon	51506	UFC1	OMIM:618076
HP:0005109	Abnormality of the Achilles tendon	2705	GJB1	OMIM:302800
HP:0005109	Abnormality of the Achilles tendon	58	ACTA1	OMIM:616852
HP:0005109	Abnormality of the Achilles tendon	26090	ABHD12	OMIM:612674
HP:0005109	Abnormality of the Achilles tendon	2218	FKTN	ORPHA:370980
HP:0005109	Abnormality of the Achilles tendon	729920	CRPPA	ORPHA:370980
HP:0005109	Abnormality of the Achilles tendon	10585	POMT1	ORPHA:370980
HP:0005109	Abnormality of the Achilles tendon	3265	HRAS	OMIM:218040
HP:0005109	Abnormality of the Achilles tendon	55768	NGLY1	ORPHA:404454
HP:0005109	Abnormality of the Achilles tendon	2799	GNS	OMIM:252940
HP:0005109	Abnormality of the Achilles tendon	4976	OPA1	OMIM:210000
HP:0005109	Abnormality of the Achilles tendon	9215	LARGE1	OMIM:608840
HP:0005109	Abnormality of the Achilles tendon	1303	COL12A1	ORPHA:610
HP:0005109	Abnormality of the Achilles tendon	1291	COL6A1	ORPHA:610
HP:0005109	Abnormality of the Achilles tendon	1293	COL6A3	ORPHA:610
HP:0005109	Abnormality of the Achilles tendon	79188	TMEM43	ORPHA:98853
HP:0005109	Abnormality of the Achilles tendon	23345	SYNE1	ORPHA:98853
HP:0005109	Abnormality of the Achilles tendon	23224	SYNE2	ORPHA:98853
HP:0005109	Abnormality of the Achilles tendon	3081	HGD	ORPHA:56
HP:0005109	Abnormality of the Achilles tendon	3081	HGD	OMIM:203500
HP:0005109	Abnormality of the Achilles tendon	3848	KRT1	ORPHA:530838
HP:0005109	Abnormality of the Achilles tendon	1593	CYP27A1	ORPHA:909
HP:0005109	Abnormality of the Achilles tendon	10342	TFG	ORPHA:431329
HP:0005109	Abnormality of the Achilles tendon	5582	PRKCG	ORPHA:98763
HP:0005109	Abnormality of the Achilles tendon	8139	GAN	ORPHA:643
HP:0005109	Abnormality of the Achilles tendon	23204	ARL6IP1	ORPHA:401780
HP:0005109	Abnormality of the Achilles tendon	5456	POU3F4	ORPHA:1435
HP:0005109	Abnormality of the Achilles tendon	9365	KL	OMIM:617994
HP:0025540	Abnormal T cell subset distribution	2137	EXTL3	ORPHA:508533
HP:0025540	Abnormal T cell subset distribution	3561	IL2RG	ORPHA:276
HP:0025540	Abnormal T cell subset distribution	3561	IL2RG	OMIM:312863
HP:0025540	Abnormal T cell subset distribution	57724	EPG5	OMIM:242840
HP:0025540	Abnormal T cell subset distribution	7454	WAS	OMIM:301000
HP:0025540	Abnormal T cell subset distribution	84061	MAGT1	OMIM:300853
HP:0025540	Abnormal T cell subset distribution	10043	TOM1	OMIM:619510
HP:0025540	Abnormal T cell subset distribution	3702	ITK	OMIM:613011
HP:0025540	Abnormal T cell subset distribution	10625	IVNS1ABP	OMIM:618969
HP:0025540	Abnormal T cell subset distribution	3551	IKBKB	OMIM:618204
HP:0025540	Abnormal T cell subset distribution	3932	LCK	OMIM:615758
HP:0025540	Abnormal T cell subset distribution	54440	SASH3	OMIM:301082
HP:0025540	Abnormal T cell subset distribution	9094	UNC119	OMIM:615518
HP:0025540	Abnormal T cell subset distribution	4609	MYC	ORPHA:543
HP:0025540	Abnormal T cell subset distribution	3575	IL7R	ORPHA:169154
HP:0025540	Abnormal T cell subset distribution	81704	DOCK8	OMIM:243700
HP:0025540	Abnormal T cell subset distribution	56160	NSMCE3	OMIM:617241
HP:0025540	Abnormal T cell subset distribution	472	ATM	OMIM:208900
HP:0025540	Abnormal T cell subset distribution	3953	LEPR	ORPHA:179494
HP:0025540	Abnormal T cell subset distribution	3952	LEP	ORPHA:66628
HP:0025540	Abnormal T cell subset distribution	7456	WIPF1	OMIM:614493
HP:0025540	Abnormal T cell subset distribution	917	CD3G	OMIM:615607
HP:0025540	Abnormal T cell subset distribution	7535	ZAP70	OMIM:269840
HP:0025540	Abnormal T cell subset distribution	7535	ZAP70	ORPHA:911
HP:0025540	Abnormal T cell subset distribution	925	CD8A	OMIM:608957
HP:0025540	Abnormal T cell subset distribution	8456	FOXN1	OMIM:601705
HP:0025540	Abnormal T cell subset distribution	84433	CARD11	OMIM:615206
HP:0025540	Abnormal T cell subset distribution	56259	CTNNBL1	OMIM:619846
HP:0025540	Abnormal T cell subset distribution	5294	PIK3CG	OMIM:619802
HP:0025540	Abnormal T cell subset distribution	5293	PIK3CD	ORPHA:221139
HP:0025540	Abnormal T cell subset distribution	90417	KNSTRN	ORPHA:221139
HP:0025540	Abnormal T cell subset distribution	3115	HLA-DPB1	ORPHA:133
HP:0025540	Abnormal T cell subset distribution	64170	CARD9	OMIM:212050
HP:0025540	Abnormal T cell subset distribution	355	FAS	ORPHA:3261
HP:0025540	Abnormal T cell subset distribution	356	FASLG	ORPHA:3261
HP:0025540	Abnormal T cell subset distribution	5580	PRKCD	ORPHA:3261
HP:0025540	Abnormal T cell subset distribution	843	CASP10	ORPHA:3261
HP:0025540	Abnormal T cell subset distribution	10125	RASGRP1	ORPHA:3261
HP:0025540	Abnormal T cell subset distribution	641	BLM	ORPHA:125
HP:0025540	Abnormal T cell subset distribution	5238	PGM3	ORPHA:443811
HP:0025540	Abnormal T cell subset distribution	5994	RFXAP	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	4261	CIITA	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	5993	RFX5	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	8625	RFXANK	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	9948	WDR1	OMIM:150550
HP:0025540	Abnormal T cell subset distribution	6850	SYK	OMIM:619381
HP:0025540	Abnormal T cell subset distribution	50943	FOXP3	ORPHA:37042
HP:0025540	Abnormal T cell subset distribution	399	RHOH	OMIM:618307
HP:0025540	Abnormal T cell subset distribution	3071	NCKAP1L	OMIM:618982
HP:0025540	Abnormal T cell subset distribution	10159	ATP6AP2	OMIM:301045
HP:0025540	Abnormal T cell subset distribution	920	CD4	OMIM:619238
HP:0025540	Abnormal T cell subset distribution	3937	LCP2	OMIM:619374
HP:0025540	Abnormal T cell subset distribution	90268	OTULIN	OMIM:617099
HP:0025540	Abnormal T cell subset distribution	51371	POMP	OMIM:618048
HP:0025540	Abnormal T cell subset distribution	2624	GATA2	OMIM:614038
HP:0025540	Abnormal T cell subset distribution	841	CASP8	OMIM:607271
HP:0025540	Abnormal T cell subset distribution	3559	IL2RA	OMIM:606367
HP:0025540	Abnormal T cell subset distribution	8546	AP3B1	OMIM:608233
HP:0025540	Abnormal T cell subset distribution	50619	DEF6	OMIM:619573
HP:0025540	Abnormal T cell subset distribution	3560	IL2RB	OMIM:618495
HP:0025540	Abnormal T cell subset distribution	4860	PNP	ORPHA:760
HP:0025540	Abnormal T cell subset distribution	5896	RAG1	ORPHA:331206
HP:0025540	Abnormal T cell subset distribution	5897	RAG2	ORPHA:331206
HP:0025540	Abnormal T cell subset distribution	916	CD3E	OMIM:615615
HP:0025540	Abnormal T cell subset distribution	916	CD3E	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	915	CD3D	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	919	CD247	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	64421	DCLRE1C	ORPHA:275
HP:0025540	Abnormal T cell subset distribution	50485	SMARCAL1	ORPHA:1830
HP:0025540	Abnormal T cell subset distribution	5295	PIK3R1	OMIM:616005
HP:0025540	Abnormal T cell subset distribution	64919	BCL11B	OMIM:617237
HP:0025540	Abnormal T cell subset distribution	8915	BCL10	OMIM:616098
HP:0025540	Abnormal T cell subset distribution	6929	TCF3	OMIM:619824
HP:0025540	Abnormal T cell subset distribution	27040	LAT	OMIM:617514
HP:0025540	Abnormal T cell subset distribution	3978	LIG1	OMIM:619774
HP:0025540	Abnormal T cell subset distribution	1503	CTPS1	OMIM:615897
HP:0005339	Abnormality of complement system	9056	SLC7A7	ORPHA:470
HP:0005339	Abnormality of complement system	10747	MASP2	OMIM:613791
HP:0005339	Abnormality of complement system	1776	DNASE1L3	ORPHA:36412
HP:0005339	Abnormality of complement system	2584	GALK1	ORPHA:79237
HP:0005339	Abnormality of complement system	732	C8B	OMIM:613789
HP:0005339	Abnormality of complement system	731	C8A	OMIM:613790
HP:0005339	Abnormality of complement system	716	C1S	OMIM:613783
HP:0005339	Abnormality of complement system	4000	LMNA	ORPHA:2348
HP:0005339	Abnormality of complement system	712	C1QA	OMIM:613652
HP:0005339	Abnormality of complement system	3426	CFI	OMIM:610984
HP:0005339	Abnormality of complement system	3075	CFH	OMIM:235400
HP:0005339	Abnormality of complement system	3078	CFHR1	OMIM:235400
HP:0005339	Abnormality of complement system	10878	CFHR3	OMIM:235400
HP:0005339	Abnormality of complement system	629	CFB	OMIM:615561
HP:0005339	Abnormality of complement system	84823	LMNB2	OMIM:608709
HP:0005339	Abnormality of complement system	84823	LMNB2	ORPHA:79087
HP:0005339	Abnormality of complement system	55690	PACS1	ORPHA:329224
HP:0005339	Abnormality of complement system	5580	PRKCD	OMIM:615559
HP:0005339	Abnormality of complement system	4179	CD46	OMIM:612922
HP:0005339	Abnormality of complement system	6775	STAT4	ORPHA:93552
HP:0005339	Abnormality of complement system	6696	SPP1	ORPHA:93552
HP:0005339	Abnormality of complement system	3654	IRAK1	ORPHA:93552
HP:0005339	Abnormality of complement system	718	C3	OMIM:613779
HP:0005339	Abnormality of complement system	718	C3	OMIM:612925
HP:0005339	Abnormality of complement system	7056	THBD	OMIM:612926
HP:0005339	Abnormality of complement system	51284	TLR7	OMIM:301080
HP:0005339	Abnormality of complement system	5199	CFP	OMIM:312060
HP:0005339	Abnormality of complement system	1675	CFD	OMIM:613912
HP:0005339	Abnormality of complement system	735	C9	OMIM:613825
HP:0005339	Abnormality of complement system	727	C5	OMIM:609536
HP:0005339	Abnormality of complement system	729	C6	OMIM:612446
HP:0005339	Abnormality of complement system	720	C4A	OMIM:614380
HP:0005339	Abnormality of complement system	710	SERPING1	OMIM:106100
HP:0005339	Abnormality of complement system	730	C7	OMIM:610102
HP:0005339	Abnormality of complement system	721	C4B	OMIM:614379
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:90039
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	OMIM:603902
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231226
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231214
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3075	CFH	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3426	CFI	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	4179	CD46	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	101101692	HELLPAR	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6005	RHAG	ORPHA:3203
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3783	KCNN4	OMIM:616689
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	404672	GTF2H5	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	833	CARS1	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2068	ERCC2	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	7737	RNF113A	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	136647	MPLKIP	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6897	TARS1	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2071	ERCC3	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2961	GTF2E2	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	9780	PIEZO1	OMIM:194380
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2038	EPB42	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6710	SPTB	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6708	SPTA1	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	286	ANK1	ORPHA:822
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:90039
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	OMIM:603902
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231226
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231214
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3075	CFH	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3426	CFI	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	4179	CD46	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	101101692	HELLPAR	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	6005	RHAG	ORPHA:3203
HP:0025548	Increased mean corpuscular hemoglobin concentration	3783	KCNN4	OMIM:616689
HP:0025548	Increased mean corpuscular hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	404672	GTF2H5	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	833	CARS1	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2068	ERCC2	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	7737	RNF113A	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	136647	MPLKIP	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	6897	TARS1	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2071	ERCC3	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2961	GTF2E2	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	9780	PIEZO1	OMIM:194380
HP:0025548	Increased mean corpuscular hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	2038	EPB42	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	6710	SPTB	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	6708	SPTA1	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	286	ANK1	ORPHA:822
HP:0025549	Eccentric visual fixation	22926	ATF6	ORPHA:49382
HP:0025549	Eccentric visual fixation	5146	PDE6C	ORPHA:49382
HP:0025549	Eccentric visual fixation	6103	RPGR	ORPHA:49382
HP:0025549	Eccentric visual fixation	5149	PDE6H	ORPHA:49382
HP:0025549	Eccentric visual fixation	2780	GNAT2	ORPHA:49382
HP:0025549	Eccentric visual fixation	1261	CNGA3	ORPHA:49382
HP:0025549	Eccentric visual fixation	54714	CNGB3	ORPHA:49382
HP:0025549	Eccentric visual fixation	8481	OFD1	OMIM:300424
HP:0005110	Atrial fibrillation	3762	KCNJ5	OMIM:613485
HP:0005110	Atrial fibrillation	3759	KCNJ2	OMIM:613980
HP:0005110	Atrial fibrillation	4635	MYL4	OMIM:617280
HP:0005110	Atrial fibrillation	3784	KCNQ1	OMIM:607554
HP:0005110	Atrial fibrillation	6331	SCN5A	OMIM:614022
HP:0005110	Atrial fibrillation	2318	FLNC	OMIM:617047
HP:0005110	Atrial fibrillation	9992	KCNE2	OMIM:611493
HP:0005110	Atrial fibrillation	55800	SCN3B	OMIM:613120
HP:0005110	Atrial fibrillation	3741	KCNA5	OMIM:612240
HP:0005110	Atrial fibrillation	6910	TBX5	ORPHA:392
HP:0005110	Atrial fibrillation	10060	ABCC9	OMIM:614050
HP:0005110	Atrial fibrillation	2783	GNB2	OMIM:619464
HP:0005110	Atrial fibrillation	6324	SCN1B	OMIM:615377
HP:0005110	Atrial fibrillation	8048	CSRP3	OMIM:612124
HP:0005110	Atrial fibrillation	6327	SCN2B	OMIM:615378
HP:0005110	Atrial fibrillation	29967	LRP12	OMIM:164310
HP:0005110	Atrial fibrillation	6262	RYR2	OMIM:604772
HP:0005110	Atrial fibrillation	845	CASQ2	OMIM:604772
HP:0005110	Atrial fibrillation	10345	TRDN	OMIM:604772
HP:0005110	Atrial fibrillation	4088	SMAD3	ORPHA:284984
HP:0005110	Atrial fibrillation	4088	SMAD3	OMIM:613795
HP:0005110	Atrial fibrillation	291	SLC25A4	ORPHA:254892
HP:0005110	Atrial fibrillation	5428	POLG	ORPHA:254892
HP:0005110	Atrial fibrillation	56652	TWNK	ORPHA:254892
HP:0005110	Atrial fibrillation	11232	POLG2	ORPHA:254892
HP:0005110	Atrial fibrillation	50484	RRM2B	ORPHA:254892
HP:0005110	Atrial fibrillation	7092	TLL1	ORPHA:99103
HP:0005110	Atrial fibrillation	7092	TLL1	OMIM:613087
HP:0005110	Atrial fibrillation	7092	TLL1	ORPHA:99106
HP:0005110	Atrial fibrillation	57057	TBX20	ORPHA:99103
HP:0005110	Atrial fibrillation	4624	MYH6	ORPHA:99103
HP:0005110	Atrial fibrillation	1482	NKX2-5	ORPHA:99103
HP:0005110	Atrial fibrillation	1482	NKX2-5	OMIM:108900
HP:0005110	Atrial fibrillation	70	ACTC1	ORPHA:99103
HP:0005110	Atrial fibrillation	10370	CITED2	ORPHA:99103
HP:0005110	Atrial fibrillation	10370	CITED2	ORPHA:99105
HP:0005110	Atrial fibrillation	2626	GATA4	ORPHA:99103
HP:0005110	Atrial fibrillation	2627	GATA6	ORPHA:99103
HP:0005110	Atrial fibrillation	151648	SGO1	OMIM:616201
HP:0005110	Atrial fibrillation	23118	TAB2	OMIM:614980
HP:0005110	Atrial fibrillation	7137	TNNI3	OMIM:613690
HP:0005110	Atrial fibrillation	7137	TNNI3	ORPHA:75249
HP:0005110	Atrial fibrillation	4000	LMNA	ORPHA:300751
HP:0005110	Atrial fibrillation	4000	LMNA	OMIM:115200
HP:0005110	Atrial fibrillation	51422	PRKAG2	OMIM:600858
HP:0005110	Atrial fibrillation	8076	MFAP5	OMIM:616166
HP:0005110	Atrial fibrillation	79188	TMEM43	OMIM:614302
HP:0005110	Atrial fibrillation	5664	PSEN2	OMIM:613697
HP:0005110	Atrial fibrillation	4878	NPPA	OMIM:612201
HP:0005110	Atrial fibrillation	4519	MT-CYB	ORPHA:137675
HP:0005110	Atrial fibrillation	4625	MYH7	ORPHA:1880
HP:0005110	Atrial fibrillation	7139	TNNT2	OMIM:115195
HP:0005110	Atrial fibrillation	7139	TNNT2	ORPHA:75249
HP:0005110	Atrial fibrillation	7139	TNNT2	OMIM:601494
HP:0005110	Atrial fibrillation	775	CACNA1C	OMIM:611875
HP:0005110	Atrial fibrillation	783	CACNB2	OMIM:611876
HP:0005110	Atrial fibrillation	84665	MYPN	ORPHA:75249
HP:0005110	Atrial fibrillation	84665	MYPN	OMIM:615248
HP:0005110	Atrial fibrillation	10112	KIF20A	ORPHA:75249
HP:0005110	Atrial fibrillation	7168	TPM1	OMIM:611878
HP:0005110	Atrial fibrillation	10021	HCN4	OMIM:163800
HP:0005110	Atrial fibrillation	1837	DTNA	OMIM:604169
HP:0005110	Atrial fibrillation	7504	XK	OMIM:300842
HP:0005110	Atrial fibrillation	80206	FHOD3	OMIM:619402
HP:0005110	Atrial fibrillation	57798	GATAD1	OMIM:614672
HP:0005110	Atrial fibrillation	287	ANK2	OMIM:600919
HP:0005110	Atrial fibrillation	1760	DMPK	OMIM:160900
HP:0005110	Atrial fibrillation	353	APRT	ORPHA:976
HP:0005110	Atrial fibrillation	1621	DBH	OMIM:223360
HP:0005110	Atrial fibrillation	9631	NUP155	OMIM:615770
HP:0005110	Atrial fibrillation	2702	GJA5	OMIM:614049
HP:0005110	Atrial fibrillation	57158	JPH2	OMIM:613873
HP:0005110	Atrial fibrillation	5350	PLN	OMIM:613874
HP:0005110	Atrial fibrillation	140628	GATA5	OMIM:617912
HP:0005110	Atrial fibrillation	91624	NEXN	OMIM:613876
HP:0005110	Atrial fibrillation	51778	MYOZ2	OMIM:613838
HP:0005110	Atrial fibrillation	6330	SCN4B	OMIM:611819
HP:0005110	Atrial fibrillation	51086	TNNI3K	OMIM:616117
HP:0005110	Atrial fibrillation	7134	TNNC1	OMIM:613243
HP:0005110	Atrial fibrillation	88	ACTN2	OMIM:612158
HP:0005110	Atrial fibrillation	284119	CAVIN1	OMIM:613327
HP:0005110	Atrial fibrillation	781	CACNA2D1	ORPHA:51083
HP:0005110	Atrial fibrillation	3757	KCNH2	ORPHA:51083
HP:0005110	Atrial fibrillation	6508	SLC4A3	ORPHA:51083
HP:0005110	Atrial fibrillation	7273	TTN	OMIM:604145
HP:0004970	Ascending tubular aorta aneurysm	126792	B3GALT6	ORPHA:536467
HP:0004970	Ascending tubular aorta aneurysm	2200	FBN1	OMIM:154700
HP:0004970	Ascending tubular aorta aneurysm	2200	FBN1	ORPHA:284979
HP:0004970	Ascending tubular aorta aneurysm	10526	IPO8	OMIM:619472
HP:0004970	Ascending tubular aorta aneurysm	59	ACTA2	OMIM:614042
HP:0004970	Ascending tubular aorta aneurysm	59	ACTA2	OMIM:611788
HP:0004970	Ascending tubular aorta aneurysm	2332	FMR1	ORPHA:908
HP:0004970	Ascending tubular aorta aneurysm	4000	LMNA	ORPHA:1662
HP:0004970	Ascending tubular aorta aneurysm	10269	ZMPSTE24	ORPHA:1662
HP:0004970	Ascending tubular aorta aneurysm	4629	MYH11	OMIM:132900
HP:0004970	Ascending tubular aorta aneurysm	7048	TGFBR2	OMIM:610168
HP:0004970	Ascending tubular aorta aneurysm	9968	MED12	OMIM:309520
HP:0004970	Ascending tubular aorta aneurysm	3593	IL12B	ORPHA:3287
HP:0004970	Ascending tubular aorta aneurysm	3106	HLA-B	ORPHA:3287
HP:0004970	Ascending tubular aorta aneurysm	6945	MLX	ORPHA:3287
HP:0004970	Ascending tubular aorta aneurysm	171019	ADAMTS19	OMIM:620067
HP:0004970	Ascending tubular aorta aneurysm	4838	NODAL	OMIM:270100
HP:0004970	Ascending tubular aorta aneurysm	10516	FBLN5	OMIM:219100
HP:0004970	Ascending tubular aorta aneurysm	2972	BRF1	ORPHA:444072
HP:0004970	Ascending tubular aorta aneurysm	1281	COL3A1	ORPHA:286
HP:0004970	Ascending tubular aorta aneurysm	633	BGN	OMIM:300989
HP:0004970	Ascending tubular aorta aneurysm	4015	LOX	OMIM:617168
HP:0004970	Ascending tubular aorta aneurysm	2702	GJA5	OMIM:612474
HP:0004970	Ascending tubular aorta aneurysm	2703	GJA8	OMIM:612474
HP:0004970	Ascending tubular aorta aneurysm	79875	THSD4	OMIM:619825
HP:0004970	Ascending tubular aorta aneurysm	523	ATP6V1A	OMIM:617403
HP:0004970	Ascending tubular aorta aneurysm	7042	TGFB2	OMIM:614816
HP:0004970	Ascending tubular aorta aneurysm	4088	SMAD3	ORPHA:284984
HP:0004970	Ascending tubular aorta aneurysm	4088	SMAD3	OMIM:613795
HP:0004970	Ascending tubular aorta aneurysm	2316	FLNA	OMIM:304120
HP:0005112	Abdominal aortic aneurysm	26191	PTPN22	ORPHA:397
HP:0005112	Abdominal aortic aneurysm	3106	HLA-B	ORPHA:397
HP:0005112	Abdominal aortic aneurysm	3123	HLA-DRB1	ORPHA:397
HP:0005112	Abdominal aortic aneurysm	8974	P4HA2	ORPHA:397
HP:0005112	Abdominal aortic aneurysm	4088	SMAD3	ORPHA:284984
HP:0005112	Abdominal aortic aneurysm	4088	SMAD3	OMIM:613795
HP:0005112	Abdominal aortic aneurysm	4088	SMAD3	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4087	SMAD2	OMIM:619656
HP:0005112	Abdominal aortic aneurysm	4087	SMAD2	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	7048	TGFBR2	OMIM:610168
HP:0005112	Abdominal aortic aneurysm	7048	TGFBR2	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	5592	PRKG1	OMIM:615436
HP:0005112	Abdominal aortic aneurysm	5592	PRKG1	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	286053	NSMCE2	OMIM:617253
HP:0005112	Abdominal aortic aneurysm	4629	MYH11	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	7046	TGFBR1	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4015	LOX	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4015	LOX	OMIM:617168
HP:0005112	Abdominal aortic aneurysm	7043	TGFB3	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	7042	TGFB2	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4089	SMAD4	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	2200	FBN1	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	59	ACTA2	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	2301	FOXE3	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4144	MAT2A	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	23493	HEY2	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	8076	MFAP5	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	4638	MYLK	ORPHA:91387
HP:0005112	Abdominal aortic aneurysm	2006	ELN	ORPHA:91387
HP:0005113	Aortic arch aneurysm	4015	LOX	OMIM:617168
HP:0005113	Aortic arch aneurysm	3756	KCNH1	OMIM:135500
HP:0005113	Aortic arch aneurysm	7048	TGFBR2	OMIM:610168
HP:0005113	Aortic arch aneurysm	6804	STX1A	ORPHA:904
HP:0005113	Aortic arch aneurysm	7461	CLIP2	ORPHA:904
HP:0005113	Aortic arch aneurysm	84277	DNAJC30	ORPHA:904
HP:0005113	Aortic arch aneurysm	8468	FKBP6	ORPHA:904
HP:0005113	Aortic arch aneurysm	5982	RFC2	ORPHA:904
HP:0005113	Aortic arch aneurysm	2969	GTF2I	ORPHA:904
HP:0005113	Aortic arch aneurysm	3984	LIMK1	ORPHA:904
HP:0005113	Aortic arch aneurysm	9569	GTF2IRD1	ORPHA:904
HP:0005113	Aortic arch aneurysm	155382	VPS37D	ORPHA:904
HP:0005113	Aortic arch aneurysm	155368	METTL27	ORPHA:904
HP:0005113	Aortic arch aneurysm	114049	BUD23	ORPHA:904
HP:0005113	Aortic arch aneurysm	7458	EIF4H	ORPHA:904
HP:0005113	Aortic arch aneurysm	84163	GTF2IRD2	ORPHA:904
HP:0005113	Aortic arch aneurysm	9275	BCL7B	ORPHA:904
HP:0005113	Aortic arch aneurysm	26608	TBL2	ORPHA:904
HP:0005113	Aortic arch aneurysm	653361	NCF1	ORPHA:904
HP:0005113	Aortic arch aneurysm	135886	TMEM270	ORPHA:904
HP:0005113	Aortic arch aneurysm	51085	MLXIPL	ORPHA:904
HP:0005113	Aortic arch aneurysm	9031	BAZ1B	ORPHA:904
HP:0005113	Aortic arch aneurysm	2006	ELN	ORPHA:904
HP:0005113	Aortic arch aneurysm	4851	NOTCH1	ORPHA:402075
HP:0005113	Aortic arch aneurysm	1482	NKX2-5	ORPHA:402075
HP:0005113	Aortic arch aneurysm	140628	GATA5	ORPHA:402075
HP:0005113	Aortic arch aneurysm	4091	SMAD6	ORPHA:402075
HP:0005113	Aortic arch aneurysm	59	ACTA2	OMIM:613834
HP:0005113	Aortic arch aneurysm	5590	PRKCZ	ORPHA:1606
HP:0005113	Aortic arch aneurysm	2563	GABRD	ORPHA:1606
HP:0005113	Aortic arch aneurysm	23013	SPEN	ORPHA:1606
HP:0005113	Aortic arch aneurysm	8510	MMP23B	ORPHA:1606
HP:0005113	Aortic arch aneurysm	7798	LUZP1	ORPHA:1606
HP:0005113	Aortic arch aneurysm	6497	SKI	ORPHA:1606
HP:0005113	Aortic arch aneurysm	10630	PDPN	ORPHA:1606
HP:0005113	Aortic arch aneurysm	3339	HSPG2	ORPHA:1606
HP:0005113	Aortic arch aneurysm	10277	UBE4B	ORPHA:1606
HP:0005113	Aortic arch aneurysm	8514	KCNAB2	ORPHA:1606
HP:0005113	Aortic arch aneurysm	473	RERE	ORPHA:1606
HP:0005113	Aortic arch aneurysm	63976	PRDM16	ORPHA:1606
HP:0005113	Aortic arch aneurysm	54897	CASZ1	ORPHA:1606
HP:0005113	Aortic arch aneurysm	55636	CHD7	ORPHA:138
HP:0005113	Aortic arch aneurysm	9723	SEMA3E	ORPHA:138
HP:0005115	Supraventricular arrhythmia	7276	TTR	ORPHA:85451
HP:0005115	Supraventricular arrhythmia	4878	NPPA	OMIM:615745
HP:0005115	Supraventricular arrhythmia	3920	LAMP2	OMIM:300257
HP:0005115	Supraventricular arrhythmia	1193	CLIC2	ORPHA:324410
HP:0005115	Supraventricular arrhythmia	3777	KCNK3	OMIM:615344
HP:0005115	Supraventricular arrhythmia	3762	KCNJ5	OMIM:613485
HP:0005115	Supraventricular arrhythmia	284252	KCTD1	OMIM:181270
HP:0005115	Supraventricular arrhythmia	23630	KCNE5	ORPHA:130
HP:0005115	Supraventricular arrhythmia	10371	SEMA3A	ORPHA:130
HP:0005115	Supraventricular arrhythmia	54795	TRPM4	ORPHA:130
HP:0005115	Supraventricular arrhythmia	3764	KCNJ8	ORPHA:130
HP:0005115	Supraventricular arrhythmia	3752	KCND3	ORPHA:130
HP:0005115	Supraventricular arrhythmia	5318	PKP2	ORPHA:130
HP:0005115	Supraventricular arrhythmia	7871	SLMAP	ORPHA:130
HP:0005115	Supraventricular arrhythmia	29098	RANGRF	ORPHA:130
HP:0005115	Supraventricular arrhythmia	6336	SCN10A	ORPHA:130
HP:0005115	Supraventricular arrhythmia	10008	KCNE3	ORPHA:130
HP:0005115	Supraventricular arrhythmia	10142	AKAP9	ORPHA:130
HP:0005115	Supraventricular arrhythmia	6337	SCNN1A	ORPHA:130
HP:0005115	Supraventricular arrhythmia	23171	GPD1L	ORPHA:130
HP:0005115	Supraventricular arrhythmia	4633	MYL2	OMIM:608758
HP:0005115	Supraventricular arrhythmia	80308	FLAD1	OMIM:255100
HP:0005115	Supraventricular arrhythmia	779	CACNA1S	ORPHA:423
HP:0005115	Supraventricular arrhythmia	6261	RYR1	ORPHA:423
HP:0005115	Supraventricular arrhythmia	4635	MYL4	OMIM:617280
HP:0005115	Supraventricular arrhythmia	6910	TBX5	ORPHA:392
HP:0005115	Supraventricular arrhythmia	10060	ABCC9	OMIM:614050
HP:0005115	Supraventricular arrhythmia	55800	SCN3B	OMIM:613120
HP:0005115	Supraventricular arrhythmia	2783	GNB2	OMIM:619464
HP:0005115	Supraventricular arrhythmia	6324	SCN1B	OMIM:615377
HP:0005115	Supraventricular arrhythmia	8048	CSRP3	OMIM:612124
HP:0005115	Supraventricular arrhythmia	6327	SCN2B	OMIM:615378
HP:0005115	Supraventricular arrhythmia	29967	LRP12	OMIM:164310
HP:0005115	Supraventricular arrhythmia	6262	RYR2	OMIM:604772
HP:0005115	Supraventricular arrhythmia	845	CASQ2	OMIM:604772
HP:0005115	Supraventricular arrhythmia	10345	TRDN	OMIM:604772
HP:0005115	Supraventricular arrhythmia	650	BMP2	OMIM:617877
HP:0005115	Supraventricular arrhythmia	51086	TNNI3K	OMIM:616117
HP:0005115	Supraventricular arrhythmia	4088	SMAD3	ORPHA:284984
HP:0005115	Supraventricular arrhythmia	4088	SMAD3	OMIM:613795
HP:0005115	Supraventricular arrhythmia	291	SLC25A4	ORPHA:254892
HP:0005115	Supraventricular arrhythmia	5428	POLG	ORPHA:254892
HP:0005115	Supraventricular arrhythmia	56652	TWNK	ORPHA:254892
HP:0005115	Supraventricular arrhythmia	11232	POLG2	ORPHA:254892
HP:0005115	Supraventricular arrhythmia	50484	RRM2B	ORPHA:254892
HP:0005115	Supraventricular arrhythmia	6331	SCN5A	OMIM:601144
HP:0005115	Supraventricular arrhythmia	6331	SCN5A	OMIM:601154
HP:0005115	Supraventricular arrhythmia	151648	SGO1	OMIM:616201
HP:0005115	Supraventricular arrhythmia	23118	TAB2	OMIM:614980
HP:0005115	Supraventricular arrhythmia	51422	PRKAG2	OMIM:600858
HP:0005115	Supraventricular arrhythmia	8076	MFAP5	OMIM:616166
HP:0005115	Supraventricular arrhythmia	5664	PSEN2	OMIM:613697
HP:0005115	Supraventricular arrhythmia	4625	MYH7	ORPHA:1880
HP:0005115	Supraventricular arrhythmia	775	CACNA1C	OMIM:611875
HP:0005115	Supraventricular arrhythmia	783	CACNB2	OMIM:611876
HP:0005115	Supraventricular arrhythmia	3784	KCNQ1	OMIM:609621
HP:0005115	Supraventricular arrhythmia	3784	KCNQ1	OMIM:607554
HP:0005115	Supraventricular arrhythmia	3784	KCNQ1	ORPHA:51083
HP:0005115	Supraventricular arrhythmia	7168	TPM1	OMIM:611878
HP:0005115	Supraventricular arrhythmia	10021	HCN4	OMIM:163800
HP:0005115	Supraventricular arrhythmia	1837	DTNA	OMIM:604169
HP:0005115	Supraventricular arrhythmia	7504	XK	OMIM:300842
HP:0005115	Supraventricular arrhythmia	80206	FHOD3	OMIM:619402
HP:0005115	Supraventricular arrhythmia	57798	GATAD1	OMIM:614672
HP:0005115	Supraventricular arrhythmia	287	ANK2	OMIM:600919
HP:0005115	Supraventricular arrhythmia	1760	DMPK	OMIM:160900
HP:0005115	Supraventricular arrhythmia	353	APRT	ORPHA:976
HP:0005115	Supraventricular arrhythmia	1621	DBH	OMIM:223360
HP:0005115	Supraventricular arrhythmia	9992	KCNE2	OMIM:611493
HP:0005115	Supraventricular arrhythmia	9631	NUP155	OMIM:615770
HP:0005115	Supraventricular arrhythmia	2702	GJA5	OMIM:614049
HP:0005115	Supraventricular arrhythmia	57158	JPH2	OMIM:613873
HP:0005115	Supraventricular arrhythmia	5350	PLN	OMIM:613874
HP:0005115	Supraventricular arrhythmia	140628	GATA5	OMIM:617912
HP:0005115	Supraventricular arrhythmia	91624	NEXN	OMIM:613876
HP:0005115	Supraventricular arrhythmia	51778	MYOZ2	OMIM:613838
HP:0005115	Supraventricular arrhythmia	6330	SCN4B	OMIM:611819
HP:0005115	Supraventricular arrhythmia	7134	TNNC1	OMIM:613243
HP:0005115	Supraventricular arrhythmia	88	ACTN2	OMIM:612158
HP:0005115	Supraventricular arrhythmia	284119	CAVIN1	OMIM:613327
HP:0005115	Supraventricular arrhythmia	781	CACNA2D1	ORPHA:51083
HP:0005115	Supraventricular arrhythmia	3759	KCNJ2	ORPHA:51083
HP:0005115	Supraventricular arrhythmia	3757	KCNH2	ORPHA:51083
HP:0005115	Supraventricular arrhythmia	6508	SLC4A3	ORPHA:51083
HP:0005115	Supraventricular arrhythmia	25792	CIZ1	ORPHA:420492
HP:0005115	Supraventricular arrhythmia	4000	LMNA	ORPHA:280365
HP:0005115	Supraventricular arrhythmia	4000	LMNA	ORPHA:168796
HP:0005115	Supraventricular arrhythmia	4000	LMNA	ORPHA:98855
HP:0005115	Supraventricular arrhythmia	4000	LMNA	ORPHA:98853
HP:0005115	Supraventricular arrhythmia	7092	TLL1	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	57057	TBX20	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	4624	MYH6	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	1482	NKX2-5	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	70	ACTC1	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	10370	CITED2	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	10370	CITED2	ORPHA:99105
HP:0005115	Supraventricular arrhythmia	2626	GATA4	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	2627	GATA6	ORPHA:99103
HP:0005115	Supraventricular arrhythmia	64072	CDH23	ORPHA:91347
HP:0005115	Supraventricular arrhythmia	1674	DES	ORPHA:98909
HP:0005115	Supraventricular arrhythmia	1282	COL4A1	OMIM:611773
HP:0005115	Supraventricular arrhythmia	4508	MT-ATP6	ORPHA:320360
HP:0005115	Supraventricular arrhythmia	84665	MYPN	ORPHA:75249
HP:0005115	Supraventricular arrhythmia	2318	FLNC	ORPHA:75249
HP:0005115	Supraventricular arrhythmia	7139	TNNT2	ORPHA:75249
HP:0005115	Supraventricular arrhythmia	7137	TNNI3	ORPHA:75249
HP:0005115	Supraventricular arrhythmia	10112	KIF20A	ORPHA:75249
HP:0005115	Supraventricular arrhythmia	2273	FHL1	ORPHA:98863
HP:0005115	Supraventricular arrhythmia	2010	EMD	ORPHA:98863
HP:0005115	Supraventricular arrhythmia	79188	TMEM43	ORPHA:98853
HP:0005115	Supraventricular arrhythmia	23345	SYNE1	ORPHA:98853
HP:0005115	Supraventricular arrhythmia	23224	SYNE2	ORPHA:98853
HP:0005115	Supraventricular arrhythmia	10560	SLC19A2	ORPHA:49827
HP:0005115	Supraventricular arrhythmia	161742	SPRED1	ORPHA:137605
HP:0005115	Supraventricular arrhythmia	8260	NAA10	OMIM:300855
HP:0005115	Supraventricular arrhythmia	3741	KCNA5	OMIM:612240
HP:0005115	Supraventricular arrhythmia	1788	DNMT3A	ORPHA:404443
HP:0005115	Supraventricular arrhythmia	4838	NODAL	OMIM:270100
HP:0005115	Supraventricular arrhythmia	442721	LMOD2	OMIM:619897
HP:0005115	Supraventricular arrhythmia	4519	MT-CYB	ORPHA:137675
HP:0005115	Supraventricular arrhythmia	1349	COX7B	OMIM:309801
HP:0005115	Supraventricular arrhythmia	3052	HCCS	OMIM:309801
HP:0005115	Supraventricular arrhythmia	54539	NDUFB11	OMIM:309801
HP:0005115	Supraventricular arrhythmia	7273	TTN	OMIM:611705
HP:0005116	Arterial tortuosity	351	APP	OMIM:605714
HP:0005116	Arterial tortuosity	5832	ALDH18A1	OMIM:616603
HP:0005116	Arterial tortuosity	81031	SLC2A10	OMIM:208050
HP:0005116	Arterial tortuosity	7046	TGFBR1	ORPHA:60030
HP:0005116	Arterial tortuosity	7046	TGFBR1	OMIM:609192
HP:0005116	Arterial tortuosity	10526	IPO8	ORPHA:60030
HP:0005116	Arterial tortuosity	10526	IPO8	OMIM:619472
HP:0005116	Arterial tortuosity	7048	TGFBR2	ORPHA:60030
HP:0005116	Arterial tortuosity	7048	TGFBR2	OMIM:610168
HP:0005116	Arterial tortuosity	4088	SMAD3	ORPHA:284984
HP:0005116	Arterial tortuosity	4088	SMAD3	OMIM:613795
HP:0005116	Arterial tortuosity	30008	EFEMP2	OMIM:614437
HP:0005116	Arterial tortuosity	7042	TGFB2	OMIM:614816
HP:0005116	Arterial tortuosity	4907	NT5E	ORPHA:289601
HP:0005116	Arterial tortuosity	7703	PCGF2	OMIM:618371
HP:0005116	Arterial tortuosity	1289	COL5A1	OMIM:619329
HP:0005116	Arterial tortuosity	538	ATP7A	OMIM:304150
HP:0005116	Arterial tortuosity	84277	DNAJC30	OMIM:619382
HP:0005116	Arterial tortuosity	85465	SELENOI	ORPHA:506353
HP:0005116	Arterial tortuosity	4514	MT-CO3	OMIM:535000
HP:0005116	Arterial tortuosity	4519	MT-CYB	OMIM:535000
HP:0005116	Arterial tortuosity	4541	MT-ND6	OMIM:535000
HP:0005116	Arterial tortuosity	4540	MT-ND5	OMIM:535000
HP:0005116	Arterial tortuosity	4508	MT-ATP6	OMIM:535000
HP:0005116	Arterial tortuosity	4539	MT-ND4L	OMIM:535000
HP:0005116	Arterial tortuosity	4535	MT-ND1	OMIM:535000
HP:0005116	Arterial tortuosity	4536	MT-ND2	OMIM:535000
HP:0005116	Arterial tortuosity	4538	MT-ND4	OMIM:535000
HP:0005116	Arterial tortuosity	4750	NEK1	ORPHA:2751
HP:0005117	Elevated diastolic blood pressure	2321	FLT1	ORPHA:275555
HP:0005117	Elevated diastolic blood pressure	219736	STOX1	ORPHA:275555
HP:0005117	Elevated diastolic blood pressure	10699	CORIN	ORPHA:275555
HP:0005117	Elevated diastolic blood pressure	4846	NOS3	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	1889	ECE1	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	1577	CYP3A5	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	2784	GNB3	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	8490	RGS5	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	5740	PTGIS	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	118	ADD1	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	481	ATP1B1	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	185	AGTR1	OMIM:145500
HP:0005117	Elevated diastolic blood pressure	183	AGT	OMIM:145500
HP:0004467	Preauricular pit	8294	H4C9	OMIM:619951
HP:0004467	Preauricular pit	2138	EYA1	OMIM:113650
HP:0004467	Preauricular pit	2138	EYA1	OMIM:602588
HP:0004467	Preauricular pit	2138	EYA1	ORPHA:52429
HP:0004467	Preauricular pit	2138	EYA1	ORPHA:2792
HP:0004467	Preauricular pit	2138	EYA1	OMIM:166780
HP:0004467	Preauricular pit	6495	SIX1	OMIM:113650
HP:0004467	Preauricular pit	6495	SIX1	ORPHA:52429
HP:0004467	Preauricular pit	6495	SIX1	OMIM:605192
HP:0004467	Preauricular pit	6495	SIX1	OMIM:608389
HP:0004467	Preauricular pit	145173	B3GLCT	OMIM:261540
HP:0004467	Preauricular pit	145173	B3GLCT	ORPHA:709
HP:0004467	Preauricular pit	1909	EDNRA	OMIM:616367
HP:0004467	Preauricular pit	3098	HK1	OMIM:618547
HP:0004467	Preauricular pit	80036	TRPM3	OMIM:620224
HP:0004467	Preauricular pit	286	ANK1	ORPHA:251066
HP:0004467	Preauricular pit	8085	KMT2D	OMIM:620186
HP:0004467	Preauricular pit	8085	KMT2D	OMIM:147920
HP:0004467	Preauricular pit	145258	GSC	OMIM:602471
HP:0004467	Preauricular pit	2702	GJA5	ORPHA:3303
HP:0004467	Preauricular pit	1482	NKX2-5	ORPHA:3303
HP:0004467	Preauricular pit	1482	NKX2-5	OMIM:187500
HP:0004467	Preauricular pit	137814	NKX2-6	ORPHA:3303
HP:0004467	Preauricular pit	23414	ZFPM2	ORPHA:3303
HP:0004467	Preauricular pit	23414	ZFPM2	OMIM:187500
HP:0004467	Preauricular pit	2626	GATA4	ORPHA:3303
HP:0004467	Preauricular pit	2626	GATA4	OMIM:187500
HP:0004467	Preauricular pit	3791	KDR	ORPHA:3303
HP:0004467	Preauricular pit	2627	GATA6	ORPHA:3303
HP:0004467	Preauricular pit	2627	GATA6	OMIM:187500
HP:0004467	Preauricular pit	2657	GDF1	ORPHA:3303
HP:0004467	Preauricular pit	182	JAG1	ORPHA:3303
HP:0004467	Preauricular pit	182	JAG1	OMIM:187500
HP:0004467	Preauricular pit	6899	TBX1	ORPHA:3303
HP:0004467	Preauricular pit	6899	TBX1	OMIM:187500
HP:0004467	Preauricular pit	140628	GATA5	ORPHA:3303
HP:0004467	Preauricular pit	2324	FLT4	ORPHA:3303
HP:0004467	Preauricular pit	10370	CITED2	ORPHA:3303
HP:0004467	Preauricular pit	3190	HNRNPK	ORPHA:453504
HP:0004467	Preauricular pit	3190	HNRNPK	ORPHA:352665
HP:0004467	Preauricular pit	23405	DICER1	OMIM:618272
HP:0004467	Preauricular pit	6299	SALL1	OMIM:107480
HP:0004467	Preauricular pit	51715	RAB23	OMIM:201000
HP:0004467	Preauricular pit	27031	NPHP3	OMIM:208540
HP:0004467	Preauricular pit	5075	PAX1	OMIM:615560
HP:0004467	Preauricular pit	5075	PAX1	ORPHA:2792
HP:0004467	Preauricular pit	2263	FGFR2	OMIM:123790
HP:0004467	Preauricular pit	5500	PPP1CB	OMIM:617506
HP:0004467	Preauricular pit	4286	MITF	OMIM:617306
HP:0004467	Preauricular pit	23384	SPECC1L	ORPHA:1519
HP:0004467	Preauricular pit	23384	SPECC1L	OMIM:145420
HP:0004467	Preauricular pit	9968	MED12	OMIM:301068
HP:0004467	Preauricular pit	10735	STAG2	OMIM:301022
HP:0004467	Preauricular pit	2316	FLNA	ORPHA:88630
HP:0004467	Preauricular pit	7994	KAT6A	ORPHA:457193
HP:0004467	Preauricular pit	3759	KCNJ2	OMIM:170390
HP:0004467	Preauricular pit	51082	POLR1D	OMIM:613717
HP:0004467	Preauricular pit	7020	TFAP2A	OMIM:113620
HP:0004467	Preauricular pit	7020	TFAP2A	ORPHA:1297
HP:0004467	Preauricular pit	9451	EIF2AK3	OMIM:226980
HP:0004467	Preauricular pit	4281	MID1	ORPHA:2745
HP:0004467	Preauricular pit	51729	WBP11	OMIM:619227
HP:0004467	Preauricular pit	7319	UBE2A	ORPHA:163956
HP:0004467	Preauricular pit	2719	GPC3	OMIM:312870
HP:0004467	Preauricular pit	2239	GPC4	OMIM:312870
HP:0004467	Preauricular pit	64132	XYLT2	ORPHA:85194
HP:0004467	Preauricular pit	53834	FGFRL1	OMIM:194190
HP:0004467	Preauricular pit	1487	CTBP1	OMIM:194190
HP:0004467	Preauricular pit	3954	LETM1	OMIM:194190
HP:0004467	Preauricular pit	7468	NSD2	OMIM:194190
HP:0004467	Preauricular pit	10815	CPLX1	OMIM:194190
HP:0004467	Preauricular pit	58499	ZNF462	OMIM:618619
HP:0004467	Preauricular pit	7403	KDM6A	OMIM:147920
HP:0005280	Depressed nasal bridge	2137	EXTL3	ORPHA:508533
HP:0005280	Depressed nasal bridge	2137	EXTL3	OMIM:617425
HP:0005280	Depressed nasal bridge	23394	ADNP	ORPHA:404448
HP:0005280	Depressed nasal bridge	340533	NEXMIF	OMIM:300912
HP:0005280	Depressed nasal bridge	8294	H4C9	OMIM:619951
HP:0005280	Depressed nasal bridge	23019	CNOT1	OMIM:618500
HP:0005280	Depressed nasal bridge	28981	IFT81	OMIM:617895
HP:0005280	Depressed nasal bridge	50651	SLC45A1	OMIM:617532
HP:0005280	Depressed nasal bridge	5728	PTEN	OMIM:605309
HP:0005280	Depressed nasal bridge	5728	PTEN	ORPHA:744
HP:0005280	Depressed nasal bridge	5728	PTEN	ORPHA:79076
HP:0005280	Depressed nasal bridge	54101	RIPK4	ORPHA:1401
HP:0005280	Depressed nasal bridge	2697	GJA1	ORPHA:1522
HP:0005280	Depressed nasal bridge	56172	ANKH	ORPHA:1522
HP:0005280	Depressed nasal bridge	23135	KDM6B	OMIM:618505
HP:0005280	Depressed nasal bridge	6228	RPS23	OMIM:617412
HP:0005280	Depressed nasal bridge	55627	SMPD4	OMIM:618622
HP:0005280	Depressed nasal bridge	7360	UGP2	OMIM:618744
HP:0005280	Depressed nasal bridge	4897	NRCAM	OMIM:619833
HP:0005280	Depressed nasal bridge	5361	PLXNA1	OMIM:619955
HP:0005280	Depressed nasal bridge	5077	PAX3	ORPHA:1529
HP:0005280	Depressed nasal bridge	5077	PAX3	OMIM:122880
HP:0005280	Depressed nasal bridge	51	ACOX1	ORPHA:2971
HP:0005280	Depressed nasal bridge	51	ACOX1	OMIM:264470
HP:0005280	Depressed nasal bridge	55209	SETD5	ORPHA:404440
HP:0005280	Depressed nasal bridge	55209	SETD5	OMIM:615761
HP:0005280	Depressed nasal bridge	79848	CSPP1	ORPHA:397715
HP:0005280	Depressed nasal bridge	9786	KIAA0586	ORPHA:397715
HP:0005280	Depressed nasal bridge	9786	KIAA0586	OMIM:616546
HP:0005280	Depressed nasal bridge	4125	MAN2B1	ORPHA:309282
HP:0005280	Depressed nasal bridge	6662	SOX9	ORPHA:140
HP:0005280	Depressed nasal bridge	6662	SOX9	OMIM:114290
HP:0005280	Depressed nasal bridge	116931	MED12L	OMIM:618872
HP:0005280	Depressed nasal bridge	9578	CDC42BPB	OMIM:619841
HP:0005280	Depressed nasal bridge	3020	H3-3A	OMIM:619720
HP:0005280	Depressed nasal bridge	80816	ASXL3	OMIM:615485
HP:0005280	Depressed nasal bridge	6536	SLC6A9	OMIM:617301
HP:0005280	Depressed nasal bridge	1855	DVL1	OMIM:616331
HP:0005280	Depressed nasal bridge	1855	DVL1	OMIM:180700
HP:0005280	Depressed nasal bridge	1855	DVL1	ORPHA:3107
HP:0005280	Depressed nasal bridge	8942	KYNU	OMIM:617661
HP:0005280	Depressed nasal bridge	55790	CSGALNACT1	OMIM:618870
HP:0005280	Depressed nasal bridge	55790	CSGALNACT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	27245	AHDC1	ORPHA:412069
HP:0005280	Depressed nasal bridge	27245	AHDC1	OMIM:615829
HP:0005280	Depressed nasal bridge	5184	PEPD	OMIM:170100
HP:0005280	Depressed nasal bridge	5184	PEPD	ORPHA:742
HP:0005280	Depressed nasal bridge	79158	GNPTAB	OMIM:252500
HP:0005280	Depressed nasal bridge	79158	GNPTAB	ORPHA:576
HP:0005280	Depressed nasal bridge	55636	CHD7	ORPHA:138
HP:0005280	Depressed nasal bridge	55636	CHD7	ORPHA:432
HP:0005280	Depressed nasal bridge	9723	SEMA3E	ORPHA:138
HP:0005280	Depressed nasal bridge	57231	SNX14	ORPHA:397709
HP:0005280	Depressed nasal bridge	50964	SOST	ORPHA:1513
HP:0005280	Depressed nasal bridge	50964	SOST	OMIM:122860
HP:0005280	Depressed nasal bridge	50964	SOST	OMIM:269500
HP:0005280	Depressed nasal bridge	7252	TSHB	ORPHA:90674
HP:0005280	Depressed nasal bridge	7252	TSHB	OMIM:275100
HP:0005280	Depressed nasal bridge	1896	EDA	OMIM:305100
HP:0005280	Depressed nasal bridge	6023	RMRP	ORPHA:175
HP:0005280	Depressed nasal bridge	55870	ASH1L	OMIM:617796
HP:0005280	Depressed nasal bridge	79029	AFG2B	OMIM:619616
HP:0005280	Depressed nasal bridge	7021	TFAP2B	ORPHA:46627
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:146000
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:1860
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:616482
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:794
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:15
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:93274
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:100800
HP:0005280	Depressed nasal bridge	10606	PAICS	OMIM:619859
HP:0005280	Depressed nasal bridge	11232	POLG2	OMIM:618528
HP:0005280	Depressed nasal bridge	55681	SCYL2	OMIM:618766
HP:0005280	Depressed nasal bridge	1009	CDH11	OMIM:619736
HP:0005280	Depressed nasal bridge	1009	CDH11	ORPHA:1299
HP:0005280	Depressed nasal bridge	64359	NXN	ORPHA:1507
HP:0005280	Depressed nasal bridge	4920	ROR2	ORPHA:1507
HP:0005280	Depressed nasal bridge	4920	ROR2	OMIM:268310
HP:0005280	Depressed nasal bridge	5191	PEX7	OMIM:215100
HP:0005280	Depressed nasal bridge	7020	TFAP2A	OMIM:113620
HP:0005280	Depressed nasal bridge	1302	COL11A2	OMIM:184840
HP:0005280	Depressed nasal bridge	1302	COL11A2	ORPHA:2021
HP:0005280	Depressed nasal bridge	1302	COL11A2	OMIM:215150
HP:0005280	Depressed nasal bridge	1302	COL11A2	ORPHA:1427
HP:0005280	Depressed nasal bridge	6872	TAF1	ORPHA:480907
HP:0005280	Depressed nasal bridge	171023	ASXL1	ORPHA:97297
HP:0005280	Depressed nasal bridge	171023	ASXL1	OMIM:605039
HP:0005280	Depressed nasal bridge	8726	EED	OMIM:617561
HP:0005280	Depressed nasal bridge	5159	PDGFRB	OMIM:616592
HP:0005280	Depressed nasal bridge	1193	CLIC2	ORPHA:324410
HP:0005280	Depressed nasal bridge	4330	MN1	OMIM:618774
HP:0005280	Depressed nasal bridge	5442	POLRMT	OMIM:619743
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:228520
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:604841
HP:0005280	Depressed nasal bridge	1301	COL11A1	ORPHA:560
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:154780
HP:0005280	Depressed nasal bridge	1301	COL11A1	ORPHA:2021
HP:0005280	Depressed nasal bridge	84314	TMEM107	OMIM:617563
HP:0005280	Depressed nasal bridge	54872	PIGG	ORPHA:488635
HP:0005280	Depressed nasal bridge	2783	GNB2	OMIM:619503
HP:0005280	Depressed nasal bridge	6602	SMARCD1	OMIM:618779
HP:0005280	Depressed nasal bridge	6602	SMARCD1	ORPHA:1465
HP:0005280	Depressed nasal bridge	26040	SETBP1	OMIM:269150
HP:0005280	Depressed nasal bridge	2316	FLNA	ORPHA:90650
HP:0005280	Depressed nasal bridge	2316	FLNA	ORPHA:90652
HP:0005280	Depressed nasal bridge	2316	FLNA	OMIM:304120
HP:0005280	Depressed nasal bridge	5373	PMM2	OMIM:212065
HP:0005280	Depressed nasal bridge	81794	ADAMTS10	OMIM:277600
HP:0005280	Depressed nasal bridge	1789	DNMT3B	OMIM:242860
HP:0005280	Depressed nasal bridge	1789	DNMT3B	ORPHA:2268
HP:0005280	Depressed nasal bridge	3981	LIG4	ORPHA:235
HP:0005280	Depressed nasal bridge	54888	NSUN2	ORPHA:235
HP:0005280	Depressed nasal bridge	56006	SMG9	OMIM:619995
HP:0005280	Depressed nasal bridge	56006	SMG9	OMIM:616920
HP:0005280	Depressed nasal bridge	3043	HBB	ORPHA:231214
HP:0005280	Depressed nasal bridge	3043	HBB	ORPHA:231226
HP:0005280	Depressed nasal bridge	6905	TBCE	OMIM:241410
HP:0005280	Depressed nasal bridge	6905	TBCE	ORPHA:2323
HP:0005280	Depressed nasal bridge	3590	IL11RA	OMIM:614188
HP:0005280	Depressed nasal bridge	51604	PIGT	OMIM:615398
HP:0005280	Depressed nasal bridge	51604	PIGT	ORPHA:369837
HP:0005280	Depressed nasal bridge	23126	POGZ	OMIM:616364
HP:0005280	Depressed nasal bridge	23126	POGZ	ORPHA:468678
HP:0005280	Depressed nasal bridge	54914	FOCAD	OMIM:619991
HP:0005280	Depressed nasal bridge	8558	CDK10	OMIM:617694
HP:0005280	Depressed nasal bridge	3572	IL6ST	OMIM:619750
HP:0005280	Depressed nasal bridge	55699	IARS2	OMIM:616007
HP:0005280	Depressed nasal bridge	8363	H4C11	OMIM:619759
HP:0005280	Depressed nasal bridge	79633	FAT4	OMIM:616006
HP:0005280	Depressed nasal bridge	79633	FAT4	ORPHA:2136
HP:0005280	Depressed nasal bridge	79633	FAT4	OMIM:615546
HP:0005280	Depressed nasal bridge	9841	ZBTB24	OMIM:614069
HP:0005280	Depressed nasal bridge	9841	ZBTB24	ORPHA:2268
HP:0005280	Depressed nasal bridge	5590	PRKCZ	ORPHA:1606
HP:0005280	Depressed nasal bridge	2563	GABRD	ORPHA:1606
HP:0005280	Depressed nasal bridge	23013	SPEN	ORPHA:1606
HP:0005280	Depressed nasal bridge	23013	SPEN	OMIM:619312
HP:0005280	Depressed nasal bridge	8510	MMP23B	ORPHA:1606
HP:0005280	Depressed nasal bridge	7798	LUZP1	ORPHA:1606
HP:0005280	Depressed nasal bridge	6497	SKI	ORPHA:1606
HP:0005280	Depressed nasal bridge	10630	PDPN	ORPHA:1606
HP:0005280	Depressed nasal bridge	3339	HSPG2	ORPHA:1606
HP:0005280	Depressed nasal bridge	10277	UBE4B	ORPHA:1606
HP:0005280	Depressed nasal bridge	8514	KCNAB2	ORPHA:1606
HP:0005280	Depressed nasal bridge	473	RERE	ORPHA:1606
HP:0005280	Depressed nasal bridge	63976	PRDM16	ORPHA:1606
HP:0005280	Depressed nasal bridge	54897	CASZ1	ORPHA:1606
HP:0005280	Depressed nasal bridge	286	ANK1	ORPHA:251066
HP:0005280	Depressed nasal bridge	285362	SUMF1	ORPHA:585
HP:0005280	Depressed nasal bridge	2736	GLI2	OMIM:610829
HP:0005280	Depressed nasal bridge	79796	ALG9	ORPHA:79328
HP:0005280	Depressed nasal bridge	79796	ALG9	OMIM:608776
HP:0005280	Depressed nasal bridge	26137	ZBTB20	OMIM:259050
HP:0005280	Depressed nasal bridge	253959	RALGAPA1	OMIM:618797
HP:0005280	Depressed nasal bridge	51098	IFT52	OMIM:617102
HP:0005280	Depressed nasal bridge	113179	ADAT3	OMIM:615286
HP:0005280	Depressed nasal bridge	113179	ADAT3	ORPHA:363528
HP:0005280	Depressed nasal bridge	6942	TCF20	OMIM:618430
HP:0005280	Depressed nasal bridge	50485	SMARCAL1	ORPHA:1830
HP:0005280	Depressed nasal bridge	50485	SMARCAL1	OMIM:242900
HP:0005280	Depressed nasal bridge	4285	MIPEP	OMIM:617228
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:123790
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:101200
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:794
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:101600
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:87
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93260
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93258
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93259
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:207410
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:1555
HP:0005280	Depressed nasal bridge	9772	TMEM94	OMIM:618316
HP:0005280	Depressed nasal bridge	124583	CANT1	OMIM:251450
HP:0005280	Depressed nasal bridge	124583	CANT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	3373	HYAL1	OMIM:601492
HP:0005280	Depressed nasal bridge	2271	FH	OMIM:606812
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:215140
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:169400
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:618019
HP:0005280	Depressed nasal bridge	57724	EPG5	OMIM:242840
HP:0005280	Depressed nasal bridge	23556	PIGN	OMIM:614080
HP:0005280	Depressed nasal bridge	775	CACNA1C	OMIM:601005
HP:0005280	Depressed nasal bridge	775	CACNA1C	OMIM:620029
HP:0005280	Depressed nasal bridge	7030	TFE3	OMIM:301066
HP:0005280	Depressed nasal bridge	79989	IFT56	OMIM:619534
HP:0005280	Depressed nasal bridge	8565	YARS1	OMIM:619418
HP:0005280	Depressed nasal bridge	84168	ANTXR1	OMIM:230740
HP:0005280	Depressed nasal bridge	84168	ANTXR1	ORPHA:2067
HP:0005280	Depressed nasal bridge	2260	FGFR1	OMIM:166250
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:432
HP:0005280	Depressed nasal bridge	2260	FGFR1	OMIM:101600
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:93258
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:2117
HP:0005280	Depressed nasal bridge	25836	NIPBL	OMIM:122470
HP:0005280	Depressed nasal bridge	25836	NIPBL	ORPHA:199
HP:0005280	Depressed nasal bridge	23499	MACF1	OMIM:618325
HP:0005280	Depressed nasal bridge	23219	FBXO28	OMIM:619777
HP:0005280	Depressed nasal bridge	51322	WAC	ORPHA:466950
HP:0005280	Depressed nasal bridge	51322	WAC	ORPHA:284169
HP:0005280	Depressed nasal bridge	51322	WAC	OMIM:616708
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:79443
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:79444
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:94089
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:612463
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:612462
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:103580
HP:0005280	Depressed nasal bridge	8813	DPM1	ORPHA:79322
HP:0005280	Depressed nasal bridge	8813	DPM1	OMIM:608799
HP:0005280	Depressed nasal bridge	3756	KCNH1	OMIM:611816
HP:0005280	Depressed nasal bridge	3756	KCNH1	ORPHA:420561
HP:0005280	Depressed nasal bridge	1280	COL2A1	ORPHA:485
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:156550
HP:0005280	Depressed nasal bridge	1280	COL2A1	ORPHA:85166
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:271700
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:151210
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:108300
HP:0005280	Depressed nasal bridge	10195	ALG3	OMIM:601110
HP:0005280	Depressed nasal bridge	6135	RPL11	ORPHA:124
HP:0005280	Depressed nasal bridge	6138	RPL15	ORPHA:124
HP:0005280	Depressed nasal bridge	6229	RPS24	ORPHA:124
HP:0005280	Depressed nasal bridge	6125	RPL5	ORPHA:124
HP:0005280	Depressed nasal bridge	6204	RPS10	ORPHA:124
HP:0005280	Depressed nasal bridge	6224	RPS20	ORPHA:124
HP:0005280	Depressed nasal bridge	6165	RPL35A	ORPHA:124
HP:0005280	Depressed nasal bridge	2623	GATA1	ORPHA:124
HP:0005280	Depressed nasal bridge	6223	RPS19	ORPHA:124
HP:0005280	Depressed nasal bridge	6232	RPS27	ORPHA:124
HP:0005280	Depressed nasal bridge	6231	RPS26	ORPHA:124
HP:0005280	Depressed nasal bridge	11224	RPL35	ORPHA:124
HP:0005280	Depressed nasal bridge	6160	RPL31	ORPHA:124
HP:0005280	Depressed nasal bridge	6218	RPS17	ORPHA:124
HP:0005280	Depressed nasal bridge	6201	RPS7	ORPHA:124
HP:0005280	Depressed nasal bridge	6155	RPL27	ORPHA:124
HP:0005280	Depressed nasal bridge	6154	RPL26	ORPHA:124
HP:0005280	Depressed nasal bridge	6210	RPS15A	ORPHA:124
HP:0005280	Depressed nasal bridge	90121	TSR2	ORPHA:124
HP:0005280	Depressed nasal bridge	6141	RPL18	ORPHA:124
HP:0005280	Depressed nasal bridge	6235	RPS29	ORPHA:124
HP:0005280	Depressed nasal bridge	6234	RPS28	ORPHA:124
HP:0005280	Depressed nasal bridge	51816	ADA2	ORPHA:124
HP:0005280	Depressed nasal bridge	6473	SHOX	ORPHA:240
HP:0005280	Depressed nasal bridge	3845	KRAS	OMIM:600268
HP:0005280	Depressed nasal bridge	3845	KRAS	ORPHA:1340
HP:0005280	Depressed nasal bridge	1387	CREBBP	OMIM:618332
HP:0005280	Depressed nasal bridge	2033	EP300	OMIM:618333
HP:0005280	Depressed nasal bridge	56160	NSMCE3	OMIM:617241
HP:0005280	Depressed nasal bridge	8295	TRRAP	OMIM:618454
HP:0005280	Depressed nasal bridge	1917	EEF1A2	OMIM:616393
HP:0005280	Depressed nasal bridge	9742	IFT140	OMIM:266920
HP:0005280	Depressed nasal bridge	60529	ALX4	ORPHA:228390
HP:0005280	Depressed nasal bridge	60529	ALX4	OMIM:609597
HP:0005280	Depressed nasal bridge	60529	ALX4	OMIM:613451
HP:0005280	Depressed nasal bridge	5587	PRKD1	OMIM:617364
HP:0005280	Depressed nasal bridge	51013	EXOSC1	OMIM:619304
HP:0005280	Depressed nasal bridge	1642	DDB1	OMIM:619426
HP:0005280	Depressed nasal bridge	6654	SOS1	OMIM:610733
HP:0005280	Depressed nasal bridge	6792	CDKL5	ORPHA:1934
HP:0005280	Depressed nasal bridge	3736	KCNA1	ORPHA:1934
HP:0005280	Depressed nasal bridge	9091	PIGQ	ORPHA:1934
HP:0005280	Depressed nasal bridge	2775	GNAO1	ORPHA:1934
HP:0005280	Depressed nasal bridge	81603	TRIM8	ORPHA:1934
HP:0005280	Depressed nasal bridge	2902	GRIN1	ORPHA:1934
HP:0005280	Depressed nasal bridge	79751	SLC25A22	ORPHA:1934
HP:0005280	Depressed nasal bridge	150094	SIK1	ORPHA:1934
HP:0005280	Depressed nasal bridge	8573	CASK	ORPHA:1934
HP:0005280	Depressed nasal bridge	23312	DMXL2	ORPHA:1934
HP:0005280	Depressed nasal bridge	2917	GRM7	ORPHA:1934
HP:0005280	Depressed nasal bridge	170302	ARX	ORPHA:1934
HP:0005280	Depressed nasal bridge	11284	PNKP	ORPHA:1934
HP:0005280	Depressed nasal bridge	6326	SCN2A	ORPHA:1934
HP:0005280	Depressed nasal bridge	51227	PIGP	ORPHA:1934
HP:0005280	Depressed nasal bridge	6324	SCN1B	ORPHA:1934
HP:0005280	Depressed nasal bridge	4761	NEUROD2	ORPHA:1934
HP:0005280	Depressed nasal bridge	1801	DPH1	ORPHA:459061
HP:0005280	Depressed nasal bridge	1801	DPH1	OMIM:616901
HP:0005280	Depressed nasal bridge	389827	MYMK	OMIM:254940
HP:0005280	Depressed nasal bridge	5813	PURA	ORPHA:314655
HP:0005280	Depressed nasal bridge	2879	GPX4	OMIM:250220
HP:0005280	Depressed nasal bridge	7291	TWIST1	ORPHA:794
HP:0005280	Depressed nasal bridge	9949	AMMECR1	OMIM:300990
HP:0005280	Depressed nasal bridge	9949	AMMECR1	ORPHA:86818
HP:0005280	Depressed nasal bridge	9361	LONP1	OMIM:600373
HP:0005280	Depressed nasal bridge	9361	LONP1	ORPHA:1458
HP:0005280	Depressed nasal bridge	4921	DDR2	OMIM:271665
HP:0005280	Depressed nasal bridge	81848	SPRY4	ORPHA:432
HP:0005280	Depressed nasal bridge	128674	PROKR2	ORPHA:432
HP:0005280	Depressed nasal bridge	2253	FGF8	ORPHA:432
HP:0005280	Depressed nasal bridge	60675	PROK2	ORPHA:432
HP:0005280	Depressed nasal bridge	6870	TACR3	ORPHA:432
HP:0005280	Depressed nasal bridge	1848	DUSP6	ORPHA:432
HP:0005280	Depressed nasal bridge	26012	NSMF	ORPHA:432
HP:0005280	Depressed nasal bridge	55717	WDR11	ORPHA:432
HP:0005280	Depressed nasal bridge	9394	HS6ST1	ORPHA:432
HP:0005280	Depressed nasal bridge	2796	GNRH1	ORPHA:432
HP:0005280	Depressed nasal bridge	2798	GNRHR	ORPHA:432
HP:0005280	Depressed nasal bridge	84634	KISS1R	ORPHA:432
HP:0005280	Depressed nasal bridge	6866	TAC3	ORPHA:432
HP:0005280	Depressed nasal bridge	8822	FGF17	ORPHA:432
HP:0005280	Depressed nasal bridge	3814	KISS1	ORPHA:432
HP:0005280	Depressed nasal bridge	51574	LARP7	OMIM:615071
HP:0005280	Depressed nasal bridge	6909	TBX2	OMIM:618223
HP:0005280	Depressed nasal bridge	5351	PLOD1	OMIM:225400
HP:0005280	Depressed nasal bridge	10785	WDR4	OMIM:618346
HP:0005280	Depressed nasal bridge	6885	MAP3K7	OMIM:617137
HP:0005280	Depressed nasal bridge	51259	TMEM216	OMIM:608091
HP:0005280	Depressed nasal bridge	23363	OBSL1	OMIM:612921
HP:0005280	Depressed nasal bridge	8675	STX16	ORPHA:94089
HP:0005280	Depressed nasal bridge	5308	PITX2	ORPHA:782
HP:0005280	Depressed nasal bridge	2296	FOXC1	ORPHA:782
HP:0005280	Depressed nasal bridge	128869	PIGU	OMIM:618590
HP:0005280	Depressed nasal bridge	5575	PRKAR1B	OMIM:619680
HP:0005280	Depressed nasal bridge	59341	TRPV4	OMIM:156530
HP:0005280	Depressed nasal bridge	59341	TRPV4	OMIM:184252
HP:0005280	Depressed nasal bridge	59341	TRPV4	ORPHA:2635
HP:0005280	Depressed nasal bridge	55869	HDAC8	OMIM:300882
HP:0005280	Depressed nasal bridge	55869	HDAC8	ORPHA:199
HP:0005280	Depressed nasal bridge	650	BMP2	ORPHA:261295
HP:0005280	Depressed nasal bridge	29998	BICRA	OMIM:619325
HP:0005280	Depressed nasal bridge	6651	SON	OMIM:617140
HP:0005280	Depressed nasal bridge	6651	SON	ORPHA:500150
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:254528
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:96184
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:96334
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:254528
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:96184
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:96334
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:254528
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:96184
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:96334
HP:0005280	Depressed nasal bridge	57520	HECW2	OMIM:617268
HP:0005280	Depressed nasal bridge	6492	SIM1	ORPHA:171829
HP:0005280	Depressed nasal bridge	9126	SMC3	OMIM:610759
HP:0005280	Depressed nasal bridge	9126	SMC3	ORPHA:199
HP:0005280	Depressed nasal bridge	56975	FAM20C	OMIM:259775
HP:0005280	Depressed nasal bridge	4763	NF1	OMIM:601321
HP:0005280	Depressed nasal bridge	4763	NF1	ORPHA:97685
HP:0005280	Depressed nasal bridge	83999	KREMEN1	OMIM:617392
HP:0005280	Depressed nasal bridge	4784	NFIX	OMIM:602535
HP:0005280	Depressed nasal bridge	4784	NFIX	ORPHA:420179
HP:0005280	Depressed nasal bridge	57551	TAOK1	OMIM:619575
HP:0005280	Depressed nasal bridge	23221	RHOBTB2	OMIM:618004
HP:0005280	Depressed nasal bridge	24140	FTSJ1	OMIM:309549
HP:0005280	Depressed nasal bridge	54496	PRMT7	OMIM:617157
HP:0005280	Depressed nasal bridge	8260	NAA10	OMIM:300855
HP:0005280	Depressed nasal bridge	7468	NSD2	OMIM:619695
HP:0005280	Depressed nasal bridge	10082	GPC6	OMIM:258315
HP:0005280	Depressed nasal bridge	10082	GPC6	ORPHA:93329
HP:0005280	Depressed nasal bridge	9820	CUL7	OMIM:273750
HP:0005280	Depressed nasal bridge	9719	ADAMTSL2	ORPHA:1901
HP:0005280	Depressed nasal bridge	9509	ADAMTS2	ORPHA:1901
HP:0005280	Depressed nasal bridge	23389	MED13L	ORPHA:369891
HP:0005280	Depressed nasal bridge	23389	MED13L	OMIM:616789
HP:0005280	Depressed nasal bridge	3265	HRAS	ORPHA:3071
HP:0005280	Depressed nasal bridge	3265	HRAS	OMIM:218040
HP:0005280	Depressed nasal bridge	6045	RNF2	OMIM:619460
HP:0005280	Depressed nasal bridge	29968	PSAT1	ORPHA:284417
HP:0005280	Depressed nasal bridge	7319	UBE2A	OMIM:300860
HP:0005280	Depressed nasal bridge	7319	UBE2A	ORPHA:163956
HP:0005280	Depressed nasal bridge	25942	SIN3A	ORPHA:94065
HP:0005280	Depressed nasal bridge	25942	SIN3A	OMIM:613406
HP:0005280	Depressed nasal bridge	9496	TBX4	ORPHA:261279
HP:0005280	Depressed nasal bridge	10524	KAT5	OMIM:619103
HP:0005280	Depressed nasal bridge	63931	MRPS14	OMIM:618378
HP:0005280	Depressed nasal bridge	22808	MRAS	OMIM:618499
HP:0005280	Depressed nasal bridge	23522	KAT6B	OMIM:603736
HP:0005280	Depressed nasal bridge	9451	EIF2AK3	OMIM:226980
HP:0005280	Depressed nasal bridge	80173	IFT74	OMIM:619582
HP:0005280	Depressed nasal bridge	54681	P4HTM	OMIM:618493
HP:0005280	Depressed nasal bridge	5277	PIGA	OMIM:300868
HP:0005280	Depressed nasal bridge	5144	PDE4D	ORPHA:439822
HP:0005280	Depressed nasal bridge	5144	PDE4D	ORPHA:950
HP:0005280	Depressed nasal bridge	5144	PDE4D	OMIM:614613
HP:0005280	Depressed nasal bridge	5144	PDE4D	ORPHA:280651
HP:0005280	Depressed nasal bridge	2475	MTOR	ORPHA:457485
HP:0005280	Depressed nasal bridge	2475	MTOR	OMIM:616638
HP:0005280	Depressed nasal bridge	23384	SPECC1L	OMIM:145420
HP:0005280	Depressed nasal bridge	5573	PRKAR1A	OMIM:101800
HP:0005280	Depressed nasal bridge	5573	PRKAR1A	ORPHA:950
HP:0005280	Depressed nasal bridge	5573	PRKAR1A	ORPHA:280651
HP:0005280	Depressed nasal bridge	9244	CRLF1	OMIM:272430
HP:0005280	Depressed nasal bridge	2737	GLI3	OMIM:146510
HP:0005280	Depressed nasal bridge	668	FOXL2	OMIM:110100
HP:0005280	Depressed nasal bridge	4927	NUP88	ORPHA:994
HP:0005280	Depressed nasal bridge	7846	TUBA1A	ORPHA:994
HP:0005280	Depressed nasal bridge	4654	MYOD1	ORPHA:994
HP:0005280	Depressed nasal bridge	4593	MUSK	ORPHA:994
HP:0005280	Depressed nasal bridge	5913	RAPSN	ORPHA:994
HP:0005280	Depressed nasal bridge	6572	SLC18A3	ORPHA:994
HP:0005280	Depressed nasal bridge	285489	DOK7	ORPHA:994
HP:0005280	Depressed nasal bridge	9321	TRIP11	ORPHA:166272
HP:0005280	Depressed nasal bridge	9321	TRIP11	OMIM:200600
HP:0005280	Depressed nasal bridge	55975	KLHL7	OMIM:617055
HP:0005280	Depressed nasal bridge	2290	FOXG1	ORPHA:261144
HP:0005280	Depressed nasal bridge	2290	FOXG1	OMIM:613454
HP:0005280	Depressed nasal bridge	9851	KIAA0753	OMIM:619479
HP:0005280	Depressed nasal bridge	5977	DPF2	OMIM:618027
HP:0005280	Depressed nasal bridge	5977	DPF2	ORPHA:1465
HP:0005280	Depressed nasal bridge	10526	IPO8	OMIM:619472
HP:0005280	Depressed nasal bridge	348180	CTU2	OMIM:618142
HP:0005280	Depressed nasal bridge	92002	CCNQ	OMIM:300707
HP:0005280	Depressed nasal bridge	285590	SH3PXD2B	ORPHA:137834
HP:0005280	Depressed nasal bridge	285590	SH3PXD2B	OMIM:249420
HP:0005280	Depressed nasal bridge	6608	SMO	OMIM:241800
HP:0005280	Depressed nasal bridge	80036	TRPM3	OMIM:620224
HP:0005280	Depressed nasal bridge	1836	SLC26A2	ORPHA:628
HP:0005280	Depressed nasal bridge	1836	SLC26A2	OMIM:256050
HP:0005280	Depressed nasal bridge	4796	TONSL	OMIM:271510
HP:0005280	Depressed nasal bridge	4796	TONSL	ORPHA:93357
HP:0005280	Depressed nasal bridge	2317	FLNB	ORPHA:503
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:108721
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:108720
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:150250
HP:0005280	Depressed nasal bridge	207	AKT1	ORPHA:744
HP:0005280	Depressed nasal bridge	207	AKT1	OMIM:176920
HP:0005280	Depressed nasal bridge	10060	ABCC9	OMIM:239850
HP:0005280	Depressed nasal bridge	23405	DICER1	OMIM:618272
HP:0005280	Depressed nasal bridge	7204	TRIO	OMIM:617061
HP:0005280	Depressed nasal bridge	5290	PIK3CA	OMIM:602501
HP:0005280	Depressed nasal bridge	5290	PIK3CA	ORPHA:60040
HP:0005280	Depressed nasal bridge	3636	INPPL1	OMIM:258480
HP:0005280	Depressed nasal bridge	3636	INPPL1	ORPHA:2746
HP:0005280	Depressed nasal bridge	2077	ERF	OMIM:617180
HP:0005280	Depressed nasal bridge	2077	ERF	OMIM:600775
HP:0005280	Depressed nasal bridge	2571	GAD1	OMIM:619124
HP:0005280	Depressed nasal bridge	2222	FDFT1	OMIM:618156
HP:0005280	Depressed nasal bridge	203068	TUBB	OMIM:156610
HP:0005280	Depressed nasal bridge	8567	MADD	OMIM:619005
HP:0005280	Depressed nasal bridge	51715	RAB23	OMIM:201000
HP:0005280	Depressed nasal bridge	8239	USP9X	OMIM:300968
HP:0005280	Depressed nasal bridge	8239	USP9X	ORPHA:480880
HP:0005280	Depressed nasal bridge	10651	MTX2	OMIM:619127
HP:0005280	Depressed nasal bridge	57477	SHROOM4	ORPHA:85288
HP:0005280	Depressed nasal bridge	64093	SMOC1	OMIM:206920
HP:0005280	Depressed nasal bridge	64093	SMOC1	ORPHA:1106
HP:0005280	Depressed nasal bridge	1028	CDKN1C	ORPHA:85173
HP:0005280	Depressed nasal bridge	1028	CDKN1C	OMIM:614732
HP:0005280	Depressed nasal bridge	5426	POLE	ORPHA:85173
HP:0005280	Depressed nasal bridge	2799	GNS	OMIM:252940
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:613707
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:613706
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:115150
HP:0005280	Depressed nasal bridge	673	BRAF	ORPHA:1340
HP:0005280	Depressed nasal bridge	9759	HDAC4	OMIM:600430
HP:0005280	Depressed nasal bridge	9759	HDAC4	ORPHA:1001
HP:0005280	Depressed nasal bridge	403	ARL3	OMIM:618161
HP:0005280	Depressed nasal bridge	4256	MGP	OMIM:245150
HP:0005280	Depressed nasal bridge	4256	MGP	ORPHA:85202
HP:0005280	Depressed nasal bridge	89970	RSPRY1	ORPHA:457395
HP:0005280	Depressed nasal bridge	89970	RSPRY1	OMIM:616723
HP:0005280	Depressed nasal bridge	9487	PIGL	OMIM:280000
HP:0005280	Depressed nasal bridge	54187	NANS	OMIM:610442
HP:0005280	Depressed nasal bridge	5557	PRIM1	OMIM:620005
HP:0005280	Depressed nasal bridge	3295	HSD17B4	OMIM:261515
HP:0005280	Depressed nasal bridge	4683	NBN	ORPHA:647
HP:0005280	Depressed nasal bridge	84081	NSRP1	OMIM:620001
HP:0005280	Depressed nasal bridge	55901	THSD1	OMIM:620244
HP:0005280	Depressed nasal bridge	7474	WNT5A	OMIM:180700
HP:0005280	Depressed nasal bridge	7474	WNT5A	ORPHA:3107
HP:0005280	Depressed nasal bridge	4668	NAGA	OMIM:609242
HP:0005280	Depressed nasal bridge	4668	NAGA	ORPHA:79280
HP:0005280	Depressed nasal bridge	2801	GOLGA2	OMIM:620240
HP:0005280	Depressed nasal bridge	9897	WASHC5	ORPHA:7
HP:0005280	Depressed nasal bridge	9897	WASHC5	OMIM:220210
HP:0005280	Depressed nasal bridge	28952	CCDC22	ORPHA:7
HP:0005280	Depressed nasal bridge	64802	NMNAT1	OMIM:619260
HP:0005280	Depressed nasal bridge	114034	TOE1	ORPHA:284339
HP:0005280	Depressed nasal bridge	9562	MINPP1	ORPHA:284339
HP:0005280	Depressed nasal bridge	51626	DYNC2LI1	OMIM:617088
HP:0005280	Depressed nasal bridge	27445	PCLO	OMIM:608027
HP:0005280	Depressed nasal bridge	121340	SP7	OMIM:613849
HP:0005280	Depressed nasal bridge	168667	BMPER	OMIM:608022
HP:0005280	Depressed nasal bridge	8450	CUL4B	OMIM:300354
HP:0005280	Depressed nasal bridge	9131	AIFM1	OMIM:300232
HP:0005280	Depressed nasal bridge	9131	AIFM1	ORPHA:83629
HP:0005280	Depressed nasal bridge	341640	FREM2	ORPHA:2052
HP:0005280	Depressed nasal bridge	80144	FRAS1	ORPHA:2052
HP:0005280	Depressed nasal bridge	80144	FRAS1	OMIM:219000
HP:0005280	Depressed nasal bridge	23426	GRIP1	ORPHA:2052
HP:0005280	Depressed nasal bridge	894	CCND2	ORPHA:83473
HP:0005280	Depressed nasal bridge	5296	PIK3R2	ORPHA:83473
HP:0005280	Depressed nasal bridge	10000	AKT3	ORPHA:83473
HP:0005280	Depressed nasal bridge	55503	TRPV6	OMIM:618188
HP:0005280	Depressed nasal bridge	5894	RAF1	OMIM:611554
HP:0005280	Depressed nasal bridge	5894	RAF1	OMIM:611553
HP:0005280	Depressed nasal bridge	57539	WDR35	OMIM:613610
HP:0005280	Depressed nasal bridge	57539	WDR35	ORPHA:93271
HP:0005280	Depressed nasal bridge	145173	B3GLCT	ORPHA:709
HP:0005280	Depressed nasal bridge	128178	EDARADD	OMIM:614941
HP:0005280	Depressed nasal bridge	128178	EDARADD	OMIM:224900
HP:0005280	Depressed nasal bridge	2629	GBA1	OMIM:608013
HP:0005280	Depressed nasal bridge	2629	GBA1	ORPHA:85212
HP:0005280	Depressed nasal bridge	1299	COL9A3	OMIM:620022
HP:0005280	Depressed nasal bridge	5447	POR	ORPHA:95699
HP:0005280	Depressed nasal bridge	5447	POR	OMIM:201750
HP:0005280	Depressed nasal bridge	5447	POR	OMIM:207410
HP:0005280	Depressed nasal bridge	9401	RECQL4	OMIM:268400
HP:0005280	Depressed nasal bridge	55112	DYNC2I1	ORPHA:93271
HP:0005280	Depressed nasal bridge	55112	DYNC2I1	OMIM:615503
HP:0005280	Depressed nasal bridge	57560	IFT80	ORPHA:93271
HP:0005280	Depressed nasal bridge	79659	DYNC2H1	ORPHA:93271
HP:0005280	Depressed nasal bridge	89891	DYNC2I2	ORPHA:93271
HP:0005280	Depressed nasal bridge	80232	WDR26	ORPHA:513456
HP:0005280	Depressed nasal bridge	80232	WDR26	OMIM:617616
HP:0005280	Depressed nasal bridge	8443	GNPAT	OMIM:222765
HP:0005280	Depressed nasal bridge	89910	UBE3B	OMIM:244450
HP:0005280	Depressed nasal bridge	9442	MED27	OMIM:619286
HP:0005280	Depressed nasal bridge	80055	PGAP1	OMIM:615802
HP:0005280	Depressed nasal bridge	2314	FLII	ORPHA:819
HP:0005280	Depressed nasal bridge	23096	IQSEC2	ORPHA:819
HP:0005280	Depressed nasal bridge	10743	RAI1	ORPHA:819
HP:0005280	Depressed nasal bridge	10522	DEAF1	ORPHA:819
HP:0005280	Depressed nasal bridge	25782	RAB3GAP2	OMIM:212720
HP:0005280	Depressed nasal bridge	25782	RAB3GAP2	ORPHA:1387
HP:0005280	Depressed nasal bridge	10472	ZBTB18	ORPHA:36367
HP:0005280	Depressed nasal bridge	10472	ZBTB18	OMIM:612337
HP:0005280	Depressed nasal bridge	57492	ARID1B	OMIM:135900
HP:0005280	Depressed nasal bridge	57492	ARID1B	ORPHA:1465
HP:0005280	Depressed nasal bridge	64324	NSD1	OMIM:117550
HP:0005280	Depressed nasal bridge	50814	NSDHL	OMIM:308050
HP:0005280	Depressed nasal bridge	6499	SKIC2	OMIM:614602
HP:0005280	Depressed nasal bridge	8289	ARID1A	OMIM:614607
HP:0005280	Depressed nasal bridge	8289	ARID1A	ORPHA:1465
HP:0005280	Depressed nasal bridge	6598	SMARCB1	OMIM:614608
HP:0005280	Depressed nasal bridge	6598	SMARCB1	ORPHA:1465
HP:0005280	Depressed nasal bridge	6597	SMARCA4	OMIM:614609
HP:0005280	Depressed nasal bridge	6597	SMARCA4	ORPHA:1465
HP:0005280	Depressed nasal bridge	1717	DHCR7	OMIM:270400
HP:0005280	Depressed nasal bridge	4524	MTHFR	ORPHA:563612
HP:0005280	Depressed nasal bridge	57216	VANGL2	ORPHA:563612
HP:0005280	Depressed nasal bridge	860	RUNX2	OMIM:119600
HP:0005280	Depressed nasal bridge	860	RUNX2	ORPHA:1452
HP:0005280	Depressed nasal bridge	23036	ZNF292	OMIM:619188
HP:0005280	Depressed nasal bridge	10682	EBP	ORPHA:35173
HP:0005280	Depressed nasal bridge	4591	TRIM37	OMIM:253250
HP:0005280	Depressed nasal bridge	3070	HELLS	ORPHA:2268
HP:0005280	Depressed nasal bridge	3070	HELLS	OMIM:616911
HP:0005280	Depressed nasal bridge	83879	CDCA7	ORPHA:2268
HP:0005280	Depressed nasal bridge	83879	CDCA7	OMIM:616910
HP:0005280	Depressed nasal bridge	1954	MEGF8	OMIM:614976
HP:0005280	Depressed nasal bridge	84300	UQCC2	OMIM:615824
HP:0005280	Depressed nasal bridge	124512	METTL23	OMIM:615942
HP:0005280	Depressed nasal bridge	2752	GLUL	OMIM:610015
HP:0005280	Depressed nasal bridge	4036	LRP2	ORPHA:2143
HP:0005280	Depressed nasal bridge	4036	LRP2	OMIM:222448
HP:0005280	Depressed nasal bridge	657	BMPR1A	ORPHA:79076
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607014
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607016
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607015
HP:0005280	Depressed nasal bridge	3425	IDUA	ORPHA:93473
HP:0005280	Depressed nasal bridge	374654	KIF7	OMIM:607131
HP:0005280	Depressed nasal bridge	129563	DIS3L2	OMIM:267000
HP:0005280	Depressed nasal bridge	10801	SEPTIN9	OMIM:162100
HP:0005280	Depressed nasal bridge	5626	PROP1	ORPHA:226307
HP:0005280	Depressed nasal bridge	89884	LHX4	ORPHA:226307
HP:0005280	Depressed nasal bridge	8022	LHX3	ORPHA:226307
HP:0005280	Depressed nasal bridge	5449	POU1F1	ORPHA:226307
HP:0005280	Depressed nasal bridge	5449	POU1F1	OMIM:613038
HP:0005280	Depressed nasal bridge	8820	HESX1	ORPHA:226307
HP:0005280	Depressed nasal bridge	5190	PEX6	OMIM:614862
HP:0005280	Depressed nasal bridge	5190	PEX6	ORPHA:912
HP:0005280	Depressed nasal bridge	1857	DVL3	ORPHA:3107
HP:0005280	Depressed nasal bridge	1857	DVL3	OMIM:616894
HP:0005280	Depressed nasal bridge	2535	FZD2	ORPHA:3107
HP:0005280	Depressed nasal bridge	2535	FZD2	OMIM:164745
HP:0005280	Depressed nasal bridge	2535	FZD2	ORPHA:93328
HP:0005280	Depressed nasal bridge	9508	ADAMTS3	ORPHA:2136
HP:0005280	Depressed nasal bridge	147372	CCBE1	ORPHA:2136
HP:0005280	Depressed nasal bridge	147372	CCBE1	OMIM:235510
HP:0005280	Depressed nasal bridge	6660	SOX5	OMIM:616803
HP:0005280	Depressed nasal bridge	26053	AUTS2	OMIM:615834
HP:0005280	Depressed nasal bridge	3211	HOXB1	OMIM:614744
HP:0005280	Depressed nasal bridge	8626	TP63	OMIM:129400
HP:0005280	Depressed nasal bridge	23345	SYNE1	ORPHA:319332
HP:0005280	Depressed nasal bridge	11128	POLR3A	OMIM:264090
HP:0005280	Depressed nasal bridge	8085	KMT2D	OMIM:620186
HP:0005280	Depressed nasal bridge	84992	PIGY	OMIM:616809
HP:0005280	Depressed nasal bridge	10236	HNRNPR	OMIM:620073
HP:0005280	Depressed nasal bridge	283209	PGM2L1	OMIM:620191
HP:0005280	Depressed nasal bridge	57459	GATAD2B	ORPHA:363686
HP:0005280	Depressed nasal bridge	2200	FBN1	OMIM:608328
HP:0005280	Depressed nasal bridge	4094	MAF	ORPHA:1272
HP:0005280	Depressed nasal bridge	4094	MAF	OMIM:601088
HP:0005280	Depressed nasal bridge	182	JAG1	OMIM:118450
HP:0005280	Depressed nasal bridge	6605	SMARCE1	OMIM:616938
HP:0005280	Depressed nasal bridge	6605	SMARCE1	ORPHA:1465
HP:0005280	Depressed nasal bridge	51085	MLXIPL	OMIM:194050
HP:0005280	Depressed nasal bridge	2006	ELN	OMIM:194050
HP:0005280	Depressed nasal bridge	3911	LAMA5	OMIM:620076
HP:0005280	Depressed nasal bridge	55343	SLC35C1	ORPHA:99843
HP:0005280	Depressed nasal bridge	10430	TMEM147	OMIM:620075
HP:0005280	Depressed nasal bridge	415	ARSL	OMIM:302950
HP:0005280	Depressed nasal bridge	9342	SNAP29	OMIM:609528
HP:0005280	Depressed nasal bridge	9968	MED12	OMIM:300895
HP:0005280	Depressed nasal bridge	546	ATRX	OMIM:309580
HP:0005280	Depressed nasal bridge	546	ATRX	OMIM:301040
HP:0005280	Depressed nasal bridge	22930	RAB3GAP1	ORPHA:1387
HP:0005280	Depressed nasal bridge	5194	PEX13	OMIM:614883
HP:0005280	Depressed nasal bridge	5194	PEX13	ORPHA:912
HP:0005280	Depressed nasal bridge	2146	EZH2	OMIM:277590
HP:0005280	Depressed nasal bridge	5195	PEX14	OMIM:614887
HP:0005280	Depressed nasal bridge	5195	PEX14	ORPHA:912
HP:0005280	Depressed nasal bridge	4882	NPR2	ORPHA:40
HP:0005280	Depressed nasal bridge	6509	SLC1A4	ORPHA:447997
HP:0005280	Depressed nasal bridge	701	BUB1B	OMIM:257300
HP:0005280	Depressed nasal bridge	117581	TWIST2	ORPHA:920
HP:0005280	Depressed nasal bridge	117581	TWIST2	OMIM:227260
HP:0005280	Depressed nasal bridge	7546	ZIC2	OMIM:609637
HP:0005280	Depressed nasal bridge	5631	PRPS1	OMIM:300661
HP:0005280	Depressed nasal bridge	91252	SLC39A13	OMIM:612350
HP:0005280	Depressed nasal bridge	55212	BBS7	OMIM:615984
HP:0005280	Depressed nasal bridge	2702	GJA5	OMIM:612474
HP:0005280	Depressed nasal bridge	2703	GJA8	OMIM:612474
HP:0005280	Depressed nasal bridge	867	CBL	OMIM:613563
HP:0005280	Depressed nasal bridge	51025	PAM16	OMIM:613320
HP:0005280	Depressed nasal bridge	4208	MEF2C	OMIM:613443
HP:0005280	Depressed nasal bridge	22907	DHX30	OMIM:617804
HP:0005280	Depressed nasal bridge	27152	INTU	OMIM:617925
HP:0005280	Depressed nasal bridge	51053	GMNN	OMIM:616835
HP:0005280	Depressed nasal bridge	7407	VARS1	OMIM:617802
HP:0005280	Depressed nasal bridge	2719	GPC3	OMIM:312870
HP:0005280	Depressed nasal bridge	2239	GPC4	OMIM:312870
HP:0005280	Depressed nasal bridge	2239	GPC4	ORPHA:2662
HP:0005280	Depressed nasal bridge	6664	SOX11	OMIM:615866
HP:0005280	Depressed nasal bridge	6664	SOX11	ORPHA:1465
HP:0005280	Depressed nasal bridge	196528	ARID2	OMIM:617808
HP:0005280	Depressed nasal bridge	196528	ARID2	ORPHA:1465
HP:0005280	Depressed nasal bridge	55670	PEX26	ORPHA:912
HP:0005280	Depressed nasal bridge	5824	PEX19	ORPHA:912
HP:0005280	Depressed nasal bridge	5828	PEX2	ORPHA:912
HP:0005280	Depressed nasal bridge	8504	PEX3	ORPHA:912
HP:0005280	Depressed nasal bridge	8799	PEX11B	ORPHA:912
HP:0005280	Depressed nasal bridge	9409	PEX16	ORPHA:912
HP:0005280	Depressed nasal bridge	5830	PEX5	ORPHA:912
HP:0005280	Depressed nasal bridge	5189	PEX1	ORPHA:912
HP:0005280	Depressed nasal bridge	5193	PEX12	ORPHA:912
HP:0005280	Depressed nasal bridge	5192	PEX10	ORPHA:912
HP:0005280	Depressed nasal bridge	90417	KNSTRN	OMIM:613328
HP:0005280	Depressed nasal bridge	90417	KNSTRN	ORPHA:221139
HP:0005280	Depressed nasal bridge	5293	PIK3CD	OMIM:613328
HP:0005280	Depressed nasal bridge	5293	PIK3CD	ORPHA:221139
HP:0005280	Depressed nasal bridge	6888	TALDO1	OMIM:606003
HP:0005280	Depressed nasal bridge	3720	JARID2	OMIM:620098
HP:0005280	Depressed nasal bridge	4054	LTBP3	OMIM:617809
HP:0005280	Depressed nasal bridge	10075	HUWE1	OMIM:309590
HP:0005280	Depressed nasal bridge	5745	PTH1R	OMIM:215045
HP:0005280	Depressed nasal bridge	5745	PTH1R	ORPHA:50945
HP:0005280	Depressed nasal bridge	79650	USB1	OMIM:604173
HP:0005280	Depressed nasal bridge	411	ARSB	OMIM:253200
HP:0005280	Depressed nasal bridge	91179	SCARF2	OMIM:600920
HP:0005280	Depressed nasal bridge	5859	QARS1	OMIM:615760
HP:0005280	Depressed nasal bridge	84162	BLTP1	OMIM:617822
HP:0005280	Depressed nasal bridge	4893	NRAS	OMIM:613224
HP:0005280	Depressed nasal bridge	169792	GLIS3	OMIM:610199
HP:0005280	Depressed nasal bridge	30008	EFEMP2	OMIM:614437
HP:0005280	Depressed nasal bridge	79644	SRD5A3	OMIM:612379
HP:0005280	Depressed nasal bridge	10982	MAPRE2	OMIM:616734
HP:0005280	Depressed nasal bridge	2720	GLB1	ORPHA:79255
HP:0005280	Depressed nasal bridge	10735	STAG2	OMIM:301022
HP:0005280	Depressed nasal bridge	405753	DUOXA2	ORPHA:95716
HP:0005280	Depressed nasal bridge	6528	SLC5A5	ORPHA:95716
HP:0005280	Depressed nasal bridge	7038	TG	ORPHA:95716
HP:0005280	Depressed nasal bridge	7173	TPO	ORPHA:95716
HP:0005280	Depressed nasal bridge	389434	IYD	ORPHA:95716
HP:0005280	Depressed nasal bridge	50506	DUOX2	ORPHA:95716
HP:0005280	Depressed nasal bridge	6659	SOX4	ORPHA:1465
HP:0005280	Depressed nasal bridge	6601	SMARCC2	ORPHA:1465
HP:0005280	Depressed nasal bridge	134701	RIPPLY2	ORPHA:2311
HP:0005280	Depressed nasal bridge	10683	DLL3	ORPHA:2311
HP:0005280	Depressed nasal bridge	3955	LFNG	ORPHA:2311
HP:0005280	Depressed nasal bridge	84667	HES7	ORPHA:2311
HP:0005280	Depressed nasal bridge	145873	MESP2	ORPHA:2311
HP:0005280	Depressed nasal bridge	5604	MAP2K1	ORPHA:1340
HP:0005280	Depressed nasal bridge	5605	MAP2K2	ORPHA:1340
HP:0005280	Depressed nasal bridge	64131	XYLT1	OMIM:615777
HP:0005280	Depressed nasal bridge	64131	XYLT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	57211	ADGRG6	OMIM:616503
HP:0005280	Depressed nasal bridge	2138	EYA1	ORPHA:2792
HP:0005280	Depressed nasal bridge	5075	PAX1	ORPHA:2792
HP:0005280	Depressed nasal bridge	1000	CDH2	OMIM:618929
HP:0005280	Depressed nasal bridge	176	ACAN	OMIM:165800
HP:0005280	Depressed nasal bridge	7050	TGIF1	OMIM:142946
HP:0005280	Depressed nasal bridge	6469	SHH	OMIM:142945
HP:0005280	Depressed nasal bridge	5422	POLA1	OMIM:301030
HP:0005280	Depressed nasal bridge	84342	COG8	OMIM:611182
HP:0005280	Depressed nasal bridge	84188	FAR1	ORPHA:438178
HP:0005280	Depressed nasal bridge	175	AGA	OMIM:208400
HP:0005280	Depressed nasal bridge	80781	COL18A1	ORPHA:1571
HP:0005280	Depressed nasal bridge	80781	COL18A1	OMIM:267750
HP:0005280	Depressed nasal bridge	5062	PAK2	ORPHA:1571
HP:0005280	Depressed nasal bridge	9419	CRIPT	OMIM:615789
HP:0005280	Depressed nasal bridge	57572	DOCK6	OMIM:614219
HP:0005280	Depressed nasal bridge	23476	BRD4	ORPHA:199
HP:0005280	Depressed nasal bridge	8243	SMC1A	ORPHA:199
HP:0005280	Depressed nasal bridge	5885	RAD21	ORPHA:199
HP:0005280	Depressed nasal bridge	9997	SCO2	OMIM:604377
HP:0005280	Depressed nasal bridge	6197	RPS6KA3	ORPHA:192
HP:0005280	Depressed nasal bridge	55180	LINS1	OMIM:614340
HP:0005280	Depressed nasal bridge	29957	SLC25A24	OMIM:612289
HP:0005280	Depressed nasal bridge	4329	ALDH6A1	OMIM:614105
HP:0005280	Depressed nasal bridge	8405	SPOP	OMIM:618828
HP:0005280	Depressed nasal bridge	8405	SPOP	OMIM:618829
HP:0005280	Depressed nasal bridge	23630	KCNE5	ORPHA:86818
HP:0005280	Depressed nasal bridge	2182	ACSL4	ORPHA:86818
HP:0005280	Depressed nasal bridge	10913	EDAR	OMIM:224900
HP:0005280	Depressed nasal bridge	284252	KCTD1	OMIM:181270
HP:0005280	Depressed nasal bridge	1718	DHCR24	ORPHA:35107
HP:0005280	Depressed nasal bridge	9702	CEP57	OMIM:614114
HP:0005280	Depressed nasal bridge	57688	ZSWIM6	OMIM:617865
HP:0005280	Depressed nasal bridge	1806	DPYD	ORPHA:1675
HP:0005280	Depressed nasal bridge	4190	MDH1	OMIM:618959
HP:0005280	Depressed nasal bridge	54676	GTPBP2	OMIM:617988
HP:0005280	Depressed nasal bridge	5495	PPM1B	ORPHA:163693
HP:0005280	Depressed nasal bridge	6519	SLC3A1	ORPHA:163693
HP:0005280	Depressed nasal bridge	9581	PREPL	ORPHA:163693
HP:0005280	Depressed nasal bridge	79823	CAMKMT	ORPHA:163693
HP:0005280	Depressed nasal bridge	126792	B3GALT6	ORPHA:536467
HP:0005280	Depressed nasal bridge	5331	PLCB3	OMIM:618961
HP:0005280	Depressed nasal bridge	9320	TRIP12	OMIM:617752
HP:0005280	Depressed nasal bridge	158326	FREM1	OMIM:614485
HP:0005280	Depressed nasal bridge	178	AGL	OMIM:232400
HP:0005280	Depressed nasal bridge	51684	SUFU	OMIM:617757
HP:0005280	Depressed nasal bridge	10225	CD96	ORPHA:1308
HP:0005280	Depressed nasal bridge	10269	ZMPSTE24	OMIM:275210
HP:0005280	Depressed nasal bridge	5286	PIK3C2A	ORPHA:557003
HP:0005280	Depressed nasal bridge	9469	CHST3	OMIM:245600
HP:0005280	Depressed nasal bridge	26229	B3GAT3	OMIM:245600
HP:0005280	Depressed nasal bridge	4204	MECP2	OMIM:300260
HP:0005280	Depressed nasal bridge	5307	PITX1	OMIM:119800
HP:0005280	Depressed nasal bridge	3832	KIF11	OMIM:152950
HP:0005280	Depressed nasal bridge	92935	MARS2	OMIM:616430
HP:0005280	Depressed nasal bridge	10736	SIX2	ORPHA:488437
HP:0005280	Depressed nasal bridge	84148	KAT8	OMIM:618974
HP:0005280	Depressed nasal bridge	25871	NEPRO	OMIM:618853
HP:0005280	Depressed nasal bridge	6929	TCF3	OMIM:619824
HP:0005280	Depressed nasal bridge	2108	ETFA	OMIM:231680
HP:0005280	Depressed nasal bridge	2109	ETFB	OMIM:231680
HP:0005280	Depressed nasal bridge	2110	ETFDH	OMIM:231680
HP:0005280	Depressed nasal bridge	1278	COL1A2	ORPHA:1899
HP:0005280	Depressed nasal bridge	1277	COL1A1	ORPHA:1899
HP:0025550	Elevated circulating ribitol concentration	22934	RPIA	OMIM:608611
HP:0025550	Elevated circulating ribitol concentration	7086	TKT	ORPHA:488618
HP:0025551	Optic nerve misrouting	146167	SLC38A8	OMIM:609218
HP:0025551	Optic nerve misrouting	4157	MC1R	ORPHA:79432
HP:0025551	Optic nerve misrouting	4948	OCA2	ORPHA:79432
HP:0025551	Optic nerve misrouting	7306	TYRP1	ORPHA:79433
HP:0025551	Optic nerve misrouting	51151	SLC45A2	ORPHA:79435
HP:0005120	Abnormal cardiac atrium morphology	8036	SHOC2	OMIM:607721
HP:0005120	Abnormal cardiac atrium morphology	10617	STAMBP	OMIM:614261
HP:0005120	Abnormal cardiac atrium morphology	8216	LZTR1	OMIM:616564
HP:0005120	Abnormal cardiac atrium morphology	8216	LZTR1	OMIM:605275
HP:0005120	Abnormal cardiac atrium morphology	91754	NEK9	OMIM:614262
HP:0005120	Abnormal cardiac atrium morphology	4750	NEK1	OMIM:263520
HP:0005120	Abnormal cardiac atrium morphology	23334	SZT2	OMIM:615476
HP:0005120	Abnormal cardiac atrium morphology	6016	RIT1	OMIM:615355
HP:0005120	Abnormal cardiac atrium morphology	81857	MED25	OMIM:616449
HP:0005120	Abnormal cardiac atrium morphology	81857	MED25	ORPHA:464738
HP:0005120	Abnormal cardiac atrium morphology	1788	DNMT3A	ORPHA:404443
HP:0005120	Abnormal cardiac atrium morphology	1788	DNMT3A	OMIM:615879
HP:0005120	Abnormal cardiac atrium morphology	1131	CHRM3	ORPHA:2970
HP:0005120	Abnormal cardiac atrium morphology	3190	HNRNPK	ORPHA:453504
HP:0005120	Abnormal cardiac atrium morphology	3190	HNRNPK	ORPHA:352665
HP:0005120	Abnormal cardiac atrium morphology	10743	RAI1	ORPHA:477817
HP:0005120	Abnormal cardiac atrium morphology	197131	UBR1	OMIM:243800
HP:0005120	Abnormal cardiac atrium morphology	23498	HAAO	OMIM:617660
HP:0005120	Abnormal cardiac atrium morphology	3020	H3-3A	OMIM:619720
HP:0005120	Abnormal cardiac atrium morphology	3021	H3-3B	OMIM:619721
HP:0005120	Abnormal cardiac atrium morphology	2050	EPHB4	OMIM:617300
HP:0005120	Abnormal cardiac atrium morphology	55790	CSGALNACT1	OMIM:618870
HP:0005120	Abnormal cardiac atrium morphology	65082	VPS33A	OMIM:617303
HP:0005120	Abnormal cardiac atrium morphology	65082	VPS33A	ORPHA:505248
HP:0005120	Abnormal cardiac atrium morphology	2201	FBN2	OMIM:121050
HP:0005120	Abnormal cardiac atrium morphology	10084	PQBP1	ORPHA:93946
HP:0005120	Abnormal cardiac atrium morphology	10084	PQBP1	ORPHA:93947
HP:0005120	Abnormal cardiac atrium morphology	10084	PQBP1	OMIM:309500
HP:0005120	Abnormal cardiac atrium morphology	6595	SMARCA2	ORPHA:2728
HP:0005120	Abnormal cardiac atrium morphology	2132	EXT2	ORPHA:466926
HP:0005120	Abnormal cardiac atrium morphology	28960	DCPS	OMIM:616459
HP:0005120	Abnormal cardiac atrium morphology	9200	HACD1	OMIM:619967
HP:0005120	Abnormal cardiac atrium morphology	23384	SPECC1L	ORPHA:1519
HP:0005120	Abnormal cardiac atrium morphology	23384	SPECC1L	OMIM:145420
HP:0005120	Abnormal cardiac atrium morphology	7086	TKT	ORPHA:488618
HP:0005120	Abnormal cardiac atrium morphology	7086	TKT	OMIM:617044
HP:0005120	Abnormal cardiac atrium morphology	57231	SNX14	ORPHA:397709
HP:0005120	Abnormal cardiac atrium morphology	2188	FANCF	OMIM:603467
HP:0005120	Abnormal cardiac atrium morphology	2188	FANCF	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	284058	KANSL1	ORPHA:363958
HP:0005120	Abnormal cardiac atrium morphology	284058	KANSL1	OMIM:610443
HP:0005120	Abnormal cardiac atrium morphology	284058	KANSL1	ORPHA:363965
HP:0005120	Abnormal cardiac atrium morphology	9968	MED12	ORPHA:93932
HP:0005120	Abnormal cardiac atrium morphology	9968	MED12	OMIM:301068
HP:0005120	Abnormal cardiac atrium morphology	9968	MED12	ORPHA:776
HP:0005120	Abnormal cardiac atrium morphology	9968	MED12	OMIM:309520
HP:0005120	Abnormal cardiac atrium morphology	2261	FGFR3	ORPHA:1860
HP:0005120	Abnormal cardiac atrium morphology	2261	FGFR3	ORPHA:93274
HP:0005120	Abnormal cardiac atrium morphology	55109	AGGF1	ORPHA:90308
HP:0005120	Abnormal cardiac atrium morphology	64359	NXN	ORPHA:1507
HP:0005120	Abnormal cardiac atrium morphology	4920	ROR2	ORPHA:1507
HP:0005120	Abnormal cardiac atrium morphology	4313	MMP2	ORPHA:371428
HP:0005120	Abnormal cardiac atrium morphology	4323	MMP14	ORPHA:371428
HP:0005120	Abnormal cardiac atrium morphology	5566	PRKACA	ORPHA:289
HP:0005120	Abnormal cardiac atrium morphology	2735	GLI1	ORPHA:289
HP:0005120	Abnormal cardiac atrium morphology	51626	DYNC2LI1	ORPHA:289
HP:0005120	Abnormal cardiac atrium morphology	10815	CPLX1	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	10815	CPLX1	OMIM:194190
HP:0005120	Abnormal cardiac atrium morphology	54872	PIGG	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	7469	NELFA	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	1487	CTBP1	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	1487	CTBP1	OMIM:194190
HP:0005120	Abnormal cardiac atrium morphology	3954	LETM1	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	3954	LETM1	OMIM:194190
HP:0005120	Abnormal cardiac atrium morphology	7468	NSD2	ORPHA:280
HP:0005120	Abnormal cardiac atrium morphology	7468	NSD2	OMIM:194190
HP:0005120	Abnormal cardiac atrium morphology	22884	WDR37	OMIM:618652
HP:0005120	Abnormal cardiac atrium morphology	833	CARS1	OMIM:618891
HP:0005120	Abnormal cardiac atrium morphology	8550	MAPKAPK5	OMIM:619869
HP:0005120	Abnormal cardiac atrium morphology	26040	SETBP1	OMIM:269150
HP:0005120	Abnormal cardiac atrium morphology	2296	FOXC1	OMIM:602482
HP:0005120	Abnormal cardiac atrium morphology	8241	RBM10	OMIM:311900
HP:0005120	Abnormal cardiac atrium morphology	8241	RBM10	ORPHA:2886
HP:0005120	Abnormal cardiac atrium morphology	1182	CLCN3	OMIM:619512
HP:0005120	Abnormal cardiac atrium morphology	1349	COX7B	OMIM:309801
HP:0005120	Abnormal cardiac atrium morphology	1349	COX7B	OMIM:300887
HP:0005120	Abnormal cardiac atrium morphology	3052	HCCS	OMIM:309801
HP:0005120	Abnormal cardiac atrium morphology	54539	NDUFB11	OMIM:309801
HP:0005120	Abnormal cardiac atrium morphology	23126	POGZ	OMIM:616364
HP:0005120	Abnormal cardiac atrium morphology	8558	CDK10	OMIM:617694
HP:0005120	Abnormal cardiac atrium morphology	51633	OTUD6B	OMIM:617452
HP:0005120	Abnormal cardiac atrium morphology	51633	OTUD6B	ORPHA:505237
HP:0005120	Abnormal cardiac atrium morphology	5604	MAP2K1	OMIM:615279
HP:0005120	Abnormal cardiac atrium morphology	5604	MAP2K1	ORPHA:1340
HP:0005120	Abnormal cardiac atrium morphology	5604	MAP2K1	OMIM:163950
HP:0005120	Abnormal cardiac atrium morphology	6134	RPL10	ORPHA:459070
HP:0005120	Abnormal cardiac atrium morphology	6134	RPL10	OMIM:300998
HP:0005120	Abnormal cardiac atrium morphology	286	ANK1	ORPHA:251066
HP:0005120	Abnormal cardiac atrium morphology	415	ARSL	ORPHA:79345
HP:0005120	Abnormal cardiac atrium morphology	79796	ALG9	ORPHA:79328
HP:0005120	Abnormal cardiac atrium morphology	7385	UQCRC2	OMIM:615160
HP:0005120	Abnormal cardiac atrium morphology	7750	ZMYM2	OMIM:619522
HP:0005120	Abnormal cardiac atrium morphology	10991	SLC38A3	OMIM:619881
HP:0005120	Abnormal cardiac atrium morphology	9772	TMEM94	OMIM:618316
HP:0005120	Abnormal cardiac atrium morphology	51341	ZBTB7A	OMIM:619769
HP:0005120	Abnormal cardiac atrium morphology	7841	MOGS	ORPHA:79330
HP:0005120	Abnormal cardiac atrium morphology	57724	EPG5	OMIM:242840
HP:0005120	Abnormal cardiac atrium morphology	23556	PIGN	OMIM:614080
HP:0005120	Abnormal cardiac atrium morphology	23556	PIGN	ORPHA:280633
HP:0005120	Abnormal cardiac atrium morphology	2239	GPC4	ORPHA:373
HP:0005120	Abnormal cardiac atrium morphology	2239	GPC4	OMIM:312870
HP:0005120	Abnormal cardiac atrium morphology	2719	GPC3	ORPHA:373
HP:0005120	Abnormal cardiac atrium morphology	2719	GPC3	OMIM:312870
HP:0005120	Abnormal cardiac atrium morphology	285203	EOGT	OMIM:615297
HP:0005120	Abnormal cardiac atrium morphology	54916	TMEM260	OMIM:617478
HP:0005120	Abnormal cardiac atrium morphology	4087	SMAD2	OMIM:619657
HP:0005120	Abnormal cardiac atrium morphology	1107	CHD3	OMIM:618205
HP:0005120	Abnormal cardiac atrium morphology	3756	KCNH1	OMIM:611816
HP:0005120	Abnormal cardiac atrium morphology	6138	RPL15	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6229	RPS24	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6125	RPL5	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6125	RPL5	OMIM:612561
HP:0005120	Abnormal cardiac atrium morphology	6204	RPS10	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6224	RPS20	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6165	RPL35A	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	2623	GATA1	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	2623	GATA1	OMIM:190685
HP:0005120	Abnormal cardiac atrium morphology	6223	RPS19	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6223	RPS19	OMIM:105650
HP:0005120	Abnormal cardiac atrium morphology	6232	RPS27	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6231	RPS26	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	11224	RPL35	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6160	RPL31	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6218	RPS17	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6218	RPS17	OMIM:612527
HP:0005120	Abnormal cardiac atrium morphology	6201	RPS7	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6155	RPL27	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6155	RPL27	OMIM:617408
HP:0005120	Abnormal cardiac atrium morphology	6154	RPL26	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6210	RPS15A	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	90121	TSR2	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6141	RPL18	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6235	RPS29	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	6234	RPS28	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	51816	ADA2	ORPHA:124
HP:0005120	Abnormal cardiac atrium morphology	3845	KRAS	OMIM:600268
HP:0005120	Abnormal cardiac atrium morphology	3845	KRAS	ORPHA:1340
HP:0005120	Abnormal cardiac atrium morphology	3845	KRAS	OMIM:609942
HP:0005120	Abnormal cardiac atrium morphology	25970	SH2B1	ORPHA:261197
HP:0005120	Abnormal cardiac atrium morphology	8621	CDK13	OMIM:617360
HP:0005120	Abnormal cardiac atrium morphology	1523	CUX1	OMIM:618330
HP:0005120	Abnormal cardiac atrium morphology	7046	TGFBR1	OMIM:609192
HP:0005120	Abnormal cardiac atrium morphology	6654	SOS1	OMIM:610733
HP:0005120	Abnormal cardiac atrium morphology	1801	DPH1	ORPHA:459061
HP:0005120	Abnormal cardiac atrium morphology	7080	NKX2-1	OMIM:610978
HP:0005120	Abnormal cardiac atrium morphology	7080	NKX2-1	ORPHA:209905
HP:0005120	Abnormal cardiac atrium morphology	2879	GPX4	OMIM:250220
HP:0005120	Abnormal cardiac atrium morphology	64132	XYLT2	OMIM:605822
HP:0005120	Abnormal cardiac atrium morphology	2737	GLI3	ORPHA:672
HP:0005120	Abnormal cardiac atrium morphology	9361	LONP1	OMIM:600373
HP:0005120	Abnormal cardiac atrium morphology	6909	TBX2	OMIM:618223
HP:0005120	Abnormal cardiac atrium morphology	6477	SIAH1	OMIM:619314
HP:0005120	Abnormal cardiac atrium morphology	123606	NIPA1	ORPHA:261183
HP:0005120	Abnormal cardiac atrium morphology	7283	TUBG1	ORPHA:261183
HP:0005120	Abnormal cardiac atrium morphology	81614	NIPA2	ORPHA:261183
HP:0005120	Abnormal cardiac atrium morphology	92335	STRADA	ORPHA:500533
HP:0005120	Abnormal cardiac atrium morphology	92335	STRADA	OMIM:611087
HP:0005120	Abnormal cardiac atrium morphology	55315	SLC29A3	OMIM:602782
HP:0005120	Abnormal cardiac atrium morphology	6888	TALDO1	ORPHA:101028
HP:0005120	Abnormal cardiac atrium morphology	6888	TALDO1	OMIM:606003
HP:0005120	Abnormal cardiac atrium morphology	6299	SALL1	OMIM:107480
HP:0005120	Abnormal cardiac atrium morphology	6299	SALL1	ORPHA:857
HP:0005120	Abnormal cardiac atrium morphology	5515	PPP2CA	OMIM:618354
HP:0005120	Abnormal cardiac atrium morphology	1387	CREBBP	ORPHA:353281
HP:0005120	Abnormal cardiac atrium morphology	1387	CREBBP	OMIM:180849
HP:0005120	Abnormal cardiac atrium morphology	1387	CREBBP	ORPHA:353277
HP:0005120	Abnormal cardiac atrium morphology	650	BMP2	ORPHA:261295
HP:0005120	Abnormal cardiac atrium morphology	6651	SON	OMIM:617140
HP:0005120	Abnormal cardiac atrium morphology	6651	SON	ORPHA:500150
HP:0005120	Abnormal cardiac atrium morphology	5649	RELN	ORPHA:89844
HP:0005120	Abnormal cardiac atrium morphology	10300	KATNB1	ORPHA:89844
HP:0005120	Abnormal cardiac atrium morphology	54820	NDE1	ORPHA:89844
HP:0005120	Abnormal cardiac atrium morphology	55215	FANCI	OMIM:609053
HP:0005120	Abnormal cardiac atrium morphology	55215	FANCI	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	1363	CPE	OMIM:619326
HP:0005120	Abnormal cardiac atrium morphology	2033	EP300	ORPHA:353284
HP:0005120	Abnormal cardiac atrium morphology	2033	EP300	OMIM:180849
HP:0005120	Abnormal cardiac atrium morphology	51114	ZDHHC9	ORPHA:776
HP:0005120	Abnormal cardiac atrium morphology	65109	UPF3B	ORPHA:776
HP:0005120	Abnormal cardiac atrium morphology	5077	PAX3	ORPHA:896
HP:0005120	Abnormal cardiac atrium morphology	9126	SMC3	OMIM:610759
HP:0005120	Abnormal cardiac atrium morphology	9126	SMC3	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	4784	NFIX	OMIM:602535
HP:0005120	Abnormal cardiac atrium morphology	2530	FUT8	OMIM:618005
HP:0005120	Abnormal cardiac atrium morphology	50619	DEF6	OMIM:619573
HP:0005120	Abnormal cardiac atrium morphology	10082	GPC6	OMIM:258315
HP:0005120	Abnormal cardiac atrium morphology	1108	CHD4	OMIM:617159
HP:0005120	Abnormal cardiac atrium morphology	54551	MAGEL2	ORPHA:398069
HP:0005120	Abnormal cardiac atrium morphology	201163	FLCN	OMIM:610883
HP:0005120	Abnormal cardiac atrium morphology	1312	COMT	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	221037	JMJD1C	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	2812	GP1BB	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	6239	RREB1	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	6899	TBX1	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	7290	HIRA	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	9632	SEC24C	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	7353	UFD1	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	421	ARVCF	ORPHA:567
HP:0005120	Abnormal cardiac atrium morphology	7703	PCGF2	OMIM:618371
HP:0005120	Abnormal cardiac atrium morphology	27031	NPHP3	OMIM:267010
HP:0005120	Abnormal cardiac atrium morphology	27031	NPHP3	OMIM:208540
HP:0005120	Abnormal cardiac atrium morphology	9496	TBX4	ORPHA:261279
HP:0005120	Abnormal cardiac atrium morphology	26276	VPS33B	OMIM:208085
HP:0005120	Abnormal cardiac atrium morphology	22808	MRAS	OMIM:618499
HP:0005120	Abnormal cardiac atrium morphology	5277	PIGA	OMIM:300868
HP:0005120	Abnormal cardiac atrium morphology	1822	ATN1	OMIM:618494
HP:0005120	Abnormal cardiac atrium morphology	7403	KDM6A	OMIM:300867
HP:0005120	Abnormal cardiac atrium morphology	7403	KDM6A	OMIM:147920
HP:0005120	Abnormal cardiac atrium morphology	3188	HNRNPH2	OMIM:300986
HP:0005120	Abnormal cardiac atrium morphology	54538	ROBO4	OMIM:618496
HP:0005120	Abnormal cardiac atrium morphology	9343	EFTUD2	OMIM:610536
HP:0005120	Abnormal cardiac atrium morphology	9343	EFTUD2	ORPHA:79113
HP:0005120	Abnormal cardiac atrium morphology	55186	SLC25A36	OMIM:620211
HP:0005120	Abnormal cardiac atrium morphology	26160	IFT172	OMIM:619471
HP:0005120	Abnormal cardiac atrium morphology	5281	PIGF	OMIM:619356
HP:0005120	Abnormal cardiac atrium morphology	1277	COL1A1	OMIM:619115
HP:0005120	Abnormal cardiac atrium morphology	348180	CTU2	OMIM:618142
HP:0005120	Abnormal cardiac atrium morphology	51604	PIGT	ORPHA:369837
HP:0005120	Abnormal cardiac atrium morphology	145173	B3GLCT	OMIM:261540
HP:0005120	Abnormal cardiac atrium morphology	92002	CCNQ	OMIM:300707
HP:0005120	Abnormal cardiac atrium morphology	57514	ARHGAP31	OMIM:100300
HP:0005120	Abnormal cardiac atrium morphology	8452	CUL3	OMIM:619239
HP:0005120	Abnormal cardiac atrium morphology	2218	FKTN	OMIM:253800
HP:0005120	Abnormal cardiac atrium morphology	113189	CHST14	OMIM:601776
HP:0005120	Abnormal cardiac atrium morphology	51360	MBTPS2	OMIM:308205
HP:0005120	Abnormal cardiac atrium morphology	7204	TRIO	OMIM:617061
HP:0005120	Abnormal cardiac atrium morphology	374879	ZNF699	OMIM:619488
HP:0005120	Abnormal cardiac atrium morphology	4841	NONO	OMIM:300967
HP:0005120	Abnormal cardiac atrium morphology	4841	NONO	ORPHA:466791
HP:0005120	Abnormal cardiac atrium morphology	51715	RAB23	OMIM:201000
HP:0005120	Abnormal cardiac atrium morphology	8239	USP9X	OMIM:300968
HP:0005120	Abnormal cardiac atrium morphology	8239	USP9X	ORPHA:480880
HP:0005120	Abnormal cardiac atrium morphology	8318	CDC45	OMIM:617063
HP:0005120	Abnormal cardiac atrium morphology	28952	CCDC22	OMIM:300963
HP:0005120	Abnormal cardiac atrium morphology	28952	CCDC22	ORPHA:7
HP:0005120	Abnormal cardiac atrium morphology	51339	DACT1	ORPHA:857
HP:0005120	Abnormal cardiac atrium morphology	673	BRAF	OMIM:613706
HP:0005120	Abnormal cardiac atrium morphology	673	BRAF	OMIM:115150
HP:0005120	Abnormal cardiac atrium morphology	673	BRAF	ORPHA:1340
HP:0005120	Abnormal cardiac atrium morphology	673	BRAF	OMIM:163950
HP:0005120	Abnormal cardiac atrium morphology	126792	B3GALT6	OMIM:271640
HP:0005120	Abnormal cardiac atrium morphology	55252	ASXL2	OMIM:617190
HP:0005120	Abnormal cardiac atrium morphology	84905	ZNF341	OMIM:618282
HP:0005120	Abnormal cardiac atrium morphology	23387	SIK3	OMIM:618162
HP:0005120	Abnormal cardiac atrium morphology	5528	PPP2R5D	ORPHA:457279
HP:0005120	Abnormal cardiac atrium morphology	7716	VEZF1	OMIM:620247
HP:0005120	Abnormal cardiac atrium morphology	5557	PRIM1	OMIM:620005
HP:0005120	Abnormal cardiac atrium morphology	3643	INSR	ORPHA:769
HP:0005120	Abnormal cardiac atrium morphology	59	ACTA2	OMIM:613834
HP:0005120	Abnormal cardiac atrium morphology	4853	NOTCH2	OMIM:610205
HP:0005120	Abnormal cardiac atrium morphology	23522	KAT6B	ORPHA:3047
HP:0005120	Abnormal cardiac atrium morphology	23522	KAT6B	OMIM:606170
HP:0005120	Abnormal cardiac atrium morphology	23522	KAT6B	ORPHA:85201
HP:0005120	Abnormal cardiac atrium morphology	55901	THSD1	OMIM:620244
HP:0005120	Abnormal cardiac atrium morphology	9897	WASHC5	ORPHA:7
HP:0005120	Abnormal cardiac atrium morphology	9897	WASHC5	OMIM:220210
HP:0005120	Abnormal cardiac atrium morphology	129285	PPP1R21	OMIM:619383
HP:0005120	Abnormal cardiac atrium morphology	27161	AGO2	OMIM:619149
HP:0005120	Abnormal cardiac atrium morphology	9652	SKIC3	ORPHA:84064
HP:0005120	Abnormal cardiac atrium morphology	6499	SKIC2	ORPHA:84064
HP:0005120	Abnormal cardiac atrium morphology	4713	NDUFB7	OMIM:620135
HP:0005120	Abnormal cardiac atrium morphology	3480	IGF1R	OMIM:270450
HP:0005120	Abnormal cardiac atrium morphology	8085	KMT2D	OMIM:147920
HP:0005120	Abnormal cardiac atrium morphology	8085	KMT2D	OMIM:620186
HP:0005120	Abnormal cardiac atrium morphology	2294	FOXF1	OMIM:265380
HP:0005120	Abnormal cardiac atrium morphology	2294	FOXF1	ORPHA:210122
HP:0005120	Abnormal cardiac atrium morphology	137814	NKX2-6	ORPHA:3384
HP:0005120	Abnormal cardiac atrium morphology	23129	PLXND1	ORPHA:3384
HP:0005120	Abnormal cardiac atrium morphology	23241	PACS2	OMIM:618067
HP:0005120	Abnormal cardiac atrium morphology	57539	WDR35	OMIM:613610
HP:0005120	Abnormal cardiac atrium morphology	5894	RAF1	OMIM:611553
HP:0005120	Abnormal cardiac atrium morphology	8496	PPFIBP1	OMIM:620024
HP:0005120	Abnormal cardiac atrium morphology	9839	ZEB2	OMIM:235730
HP:0005120	Abnormal cardiac atrium morphology	64324	NSD1	ORPHA:821
HP:0005120	Abnormal cardiac atrium morphology	64324	NSD1	OMIM:117550
HP:0005120	Abnormal cardiac atrium morphology	29072	SETD2	ORPHA:821
HP:0005120	Abnormal cardiac atrium morphology	10297	APC2	ORPHA:821
HP:0005120	Abnormal cardiac atrium morphology	1278	COL1A2	ORPHA:230851
HP:0005120	Abnormal cardiac atrium morphology	613	BCR	ORPHA:261330
HP:0005120	Abnormal cardiac atrium morphology	1399	CRKL	ORPHA:261330
HP:0005120	Abnormal cardiac atrium morphology	5594	MAPK1	ORPHA:261330
HP:0005120	Abnormal cardiac atrium morphology	5594	MAPK1	OMIM:619087
HP:0005120	Abnormal cardiac atrium morphology	89910	UBE3B	OMIM:244450
HP:0005120	Abnormal cardiac atrium morphology	55788	LMBRD1	OMIM:277380
HP:0005120	Abnormal cardiac atrium morphology	10847	SRCAP	ORPHA:2044
HP:0005120	Abnormal cardiac atrium morphology	10847	SRCAP	OMIM:136140
HP:0005120	Abnormal cardiac atrium morphology	1717	DHCR7	ORPHA:818
HP:0005120	Abnormal cardiac atrium morphology	1717	DHCR7	OMIM:270400
HP:0005120	Abnormal cardiac atrium morphology	56992	KIF15	ORPHA:261323
HP:0005120	Abnormal cardiac atrium morphology	57492	ARID1B	OMIM:135900
HP:0005120	Abnormal cardiac atrium morphology	57492	ARID1B	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	1889	ECE1	OMIM:613870
HP:0005120	Abnormal cardiac atrium morphology	672	BRCA1	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	10459	MAD2L2	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	7516	XRCC2	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	29089	UBE2T	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	675	BRCA2	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	55120	FANCL	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2177	FANCD2	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2175	FANCA	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2187	FANCB	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2176	FANCC	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2178	FANCE	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	2189	FANCG	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	5888	RAD51	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	5889	RAD51C	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	55159	RFWD3	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	83990	BRIP1	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	57697	FANCM	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	79728	PALB2	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	84464	SLX4	ORPHA:84
HP:0005120	Abnormal cardiac atrium morphology	6597	SMARCA4	OMIM:614609
HP:0005120	Abnormal cardiac atrium morphology	6597	SMARCA4	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	222663	SCUBE3	OMIM:619184
HP:0005120	Abnormal cardiac atrium morphology	9896	FIG4	ORPHA:3472
HP:0005120	Abnormal cardiac atrium morphology	55697	VAC14	ORPHA:3472
HP:0005120	Abnormal cardiac atrium morphology	9184	BUB3	ORPHA:1052
HP:0005120	Abnormal cardiac atrium morphology	9702	CEP57	ORPHA:1052
HP:0005120	Abnormal cardiac atrium morphology	9702	CEP57	OMIM:614114
HP:0005120	Abnormal cardiac atrium morphology	9319	TRIP13	ORPHA:1052
HP:0005120	Abnormal cardiac atrium morphology	701	BUB1B	ORPHA:1052
HP:0005120	Abnormal cardiac atrium morphology	701	BUB1B	OMIM:257300
HP:0005120	Abnormal cardiac atrium morphology	26053	AUTS2	ORPHA:352490
HP:0005120	Abnormal cardiac atrium morphology	6885	MAP3K7	OMIM:157800
HP:0005120	Abnormal cardiac atrium morphology	55148	UBR7	OMIM:619189
HP:0005120	Abnormal cardiac atrium morphology	1954	MEGF8	OMIM:614976
HP:0005120	Abnormal cardiac atrium morphology	5728	PTEN	ORPHA:79076
HP:0005120	Abnormal cardiac atrium morphology	657	BMPR1A	ORPHA:79076
HP:0005120	Abnormal cardiac atrium morphology	26005	C2CD3	OMIM:615948
HP:0005120	Abnormal cardiac atrium morphology	53834	FGFRL1	OMIM:194190
HP:0005120	Abnormal cardiac atrium morphology	3265	HRAS	OMIM:218040
HP:0005120	Abnormal cardiac atrium morphology	5826	ABCD4	OMIM:614857
HP:0005120	Abnormal cardiac atrium morphology	2697	GJA1	OMIM:164200
HP:0005120	Abnormal cardiac atrium morphology	2697	GJA1	ORPHA:2248
HP:0005120	Abnormal cardiac atrium morphology	10841	FTCD	ORPHA:51208
HP:0005120	Abnormal cardiac atrium morphology	5828	PEX2	OMIM:614866
HP:0005120	Abnormal cardiac atrium morphology	6804	STX1A	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	7461	CLIP2	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	84277	DNAJC30	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	8468	FKBP6	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	5982	RFC2	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	2969	GTF2I	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	3984	LIMK1	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	9569	GTF2IRD1	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	155382	VPS37D	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	155368	METTL27	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	114049	BUD23	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	7458	EIF4H	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	84163	GTF2IRD2	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	9275	BCL7B	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	26608	TBL2	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	653361	NCF1	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	135886	TMEM270	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	51085	MLXIPL	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	51085	MLXIPL	OMIM:194050
HP:0005120	Abnormal cardiac atrium morphology	9031	BAZ1B	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	2006	ELN	ORPHA:904
HP:0005120	Abnormal cardiac atrium morphology	2006	ELN	OMIM:194050
HP:0005120	Abnormal cardiac atrium morphology	84720	PIGO	OMIM:614749
HP:0005120	Abnormal cardiac atrium morphology	6789	STK4	OMIM:614868
HP:0005120	Abnormal cardiac atrium morphology	54499	TMCO1	OMIM:213980
HP:0005120	Abnormal cardiac atrium morphology	55719	SLF2	OMIM:620184
HP:0005120	Abnormal cardiac atrium morphology	10907	TXNL4A	OMIM:608572
HP:0005120	Abnormal cardiac atrium morphology	51611	DPH5	OMIM:620070
HP:0005120	Abnormal cardiac atrium morphology	79228	THOC6	ORPHA:363444
HP:0005120	Abnormal cardiac atrium morphology	4089	SMAD4	OMIM:139210
HP:0005120	Abnormal cardiac atrium morphology	182	JAG1	OMIM:118450
HP:0005120	Abnormal cardiac atrium morphology	6605	SMARCE1	OMIM:616938
HP:0005120	Abnormal cardiac atrium morphology	6605	SMARCE1	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	388015	RTL1	ORPHA:96334
HP:0005120	Abnormal cardiac atrium morphology	8788	DLK1	ORPHA:96334
HP:0005120	Abnormal cardiac atrium morphology	55384	MEG3	ORPHA:96334
HP:0005120	Abnormal cardiac atrium morphology	3911	LAMA5	OMIM:620076
HP:0005120	Abnormal cardiac atrium morphology	10430	TMEM147	OMIM:620075
HP:0005120	Abnormal cardiac atrium morphology	7355	SLC35A2	OMIM:300896
HP:0005120	Abnormal cardiac atrium morphology	23483	TGDS	ORPHA:1388
HP:0005120	Abnormal cardiac atrium morphology	4088	SMAD3	OMIM:613795
HP:0005120	Abnormal cardiac atrium morphology	80184	CEP290	OMIM:611134
HP:0005120	Abnormal cardiac atrium morphology	7048	TGFBR2	OMIM:610168
HP:0005120	Abnormal cardiac atrium morphology	140628	GATA5	OMIM:617912
HP:0005120	Abnormal cardiac atrium morphology	5824	PEX19	OMIM:614886
HP:0005120	Abnormal cardiac atrium morphology	8195	MKKS	ORPHA:2473
HP:0005120	Abnormal cardiac atrium morphology	51574	LARP7	ORPHA:319671
HP:0005120	Abnormal cardiac atrium morphology	147372	CCBE1	OMIM:235510
HP:0005120	Abnormal cardiac atrium morphology	50945	TBX22	ORPHA:921
HP:0005120	Abnormal cardiac atrium morphology	84978	FRMD5	OMIM:620094
HP:0005120	Abnormal cardiac atrium morphology	157570	ESCO2	OMIM:268300
HP:0005120	Abnormal cardiac atrium morphology	171023	ASXL1	OMIM:605039
HP:0005120	Abnormal cardiac atrium morphology	2317	FLNB	OMIM:150250
HP:0005120	Abnormal cardiac atrium morphology	583	BBS2	OMIM:615981
HP:0005120	Abnormal cardiac atrium morphology	2702	GJA5	OMIM:612474
HP:0005120	Abnormal cardiac atrium morphology	2703	GJA8	OMIM:612474
HP:0005120	Abnormal cardiac atrium morphology	55690	PACS1	ORPHA:329224
HP:0005120	Abnormal cardiac atrium morphology	10664	CTCF	OMIM:615502
HP:0005120	Abnormal cardiac atrium morphology	10664	CTCF	ORPHA:363611
HP:0005120	Abnormal cardiac atrium morphology	196528	ARID2	OMIM:617808
HP:0005120	Abnormal cardiac atrium morphology	196528	ARID2	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	8243	SMC1A	OMIM:301044
HP:0005120	Abnormal cardiac atrium morphology	8243	SMC1A	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	9780	PIEZO1	OMIM:616843
HP:0005120	Abnormal cardiac atrium morphology	11020	IFT27	OMIM:615996
HP:0005120	Abnormal cardiac atrium morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005120	Abnormal cardiac atrium morphology	5648	MASP1	OMIM:257920
HP:0005120	Abnormal cardiac atrium morphology	23394	ADNP	OMIM:615873
HP:0005120	Abnormal cardiac atrium morphology	57167	SALL4	OMIM:607323
HP:0005120	Abnormal cardiac atrium morphology	2258	FGF13	OMIM:301058
HP:0005120	Abnormal cardiac atrium morphology	57465	TBC1D24	OMIM:220500
HP:0005120	Abnormal cardiac atrium morphology	113179	ADAT3	ORPHA:363528
HP:0005120	Abnormal cardiac atrium morphology	3313	HSPA9	OMIM:616854
HP:0005120	Abnormal cardiac atrium morphology	131118	DNAJC19	OMIM:610198
HP:0005120	Abnormal cardiac atrium morphology	5447	POR	OMIM:207410
HP:0005120	Abnormal cardiac atrium morphology	2263	FGFR2	OMIM:207410
HP:0005120	Abnormal cardiac atrium morphology	10560	SLC19A2	ORPHA:49827
HP:0005120	Abnormal cardiac atrium morphology	10560	SLC19A2	OMIM:249270
HP:0005120	Abnormal cardiac atrium morphology	4297	KMT2A	OMIM:605130
HP:0005120	Abnormal cardiac atrium morphology	10265	IRX5	OMIM:611174
HP:0005120	Abnormal cardiac atrium morphology	6598	SMARCB1	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	6659	SOX4	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	8289	ARID1A	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	5977	DPF2	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	6601	SMARCC2	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	6602	SMARCD1	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	6664	SOX11	ORPHA:1465
HP:0005120	Abnormal cardiac atrium morphology	27315	PGAP2	OMIM:614207
HP:0005120	Abnormal cardiac atrium morphology	5605	MAP2K2	ORPHA:1340
HP:0005120	Abnormal cardiac atrium morphology	6606	SMN1	OMIM:253300
HP:0005120	Abnormal cardiac atrium morphology	54806	AHI1	OMIM:608629
HP:0005120	Abnormal cardiac atrium morphology	5422	POLA1	OMIM:301030
HP:0005120	Abnormal cardiac atrium morphology	79576	NKAP	OMIM:301039
HP:0005120	Abnormal cardiac atrium morphology	25	ABL1	OMIM:617602
HP:0005120	Abnormal cardiac atrium morphology	57511	COG6	OMIM:614576
HP:0005120	Abnormal cardiac atrium morphology	2260	FGFR1	OMIM:613001
HP:0005120	Abnormal cardiac atrium morphology	23476	BRD4	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	25836	NIPBL	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	55869	HDAC8	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	5885	RAD21	ORPHA:199
HP:0005120	Abnormal cardiac atrium morphology	6628	SNRPB	OMIM:117650
HP:0005120	Abnormal cardiac atrium morphology	29957	SLC25A24	OMIM:612289
HP:0005120	Abnormal cardiac atrium morphology	54880	BCOR	OMIM:300166
HP:0005120	Abnormal cardiac atrium morphology	55617	TASP1	OMIM:618950
HP:0005120	Abnormal cardiac atrium morphology	6857	SYT1	ORPHA:522077
HP:0005120	Abnormal cardiac atrium morphology	10293	TRAIP	OMIM:616777
HP:0005120	Abnormal cardiac atrium morphology	4780	NFE2L2	OMIM:617744
HP:0005120	Abnormal cardiac atrium morphology	3832	KIF11	ORPHA:2526
HP:0005120	Abnormal cardiac atrium morphology	5500	PPP1CB	OMIM:617506
HP:0005120	Abnormal cardiac atrium morphology	93649	MYOCD	OMIM:618719
HP:0005120	Abnormal cardiac atrium morphology	139285	AMER1	OMIM:300373
HP:0005120	Abnormal cardiac atrium morphology	5296	PIK3R2	OMIM:603387
HP:0005120	Abnormal cardiac atrium morphology	9786	KIAA0586	OMIM:616546
HP:0005120	Abnormal cardiac atrium morphology	5116	PCNT	ORPHA:2637
HP:0005120	Abnormal cardiac atrium morphology	4000	LMNA	ORPHA:1662
HP:0005120	Abnormal cardiac atrium morphology	10269	ZMPSTE24	ORPHA:1662
HP:0005120	Abnormal cardiac atrium morphology	10269	ZMPSTE24	OMIM:275210
HP:0005120	Abnormal cardiac atrium morphology	9439	MED23	OMIM:614249
HP:0005120	Abnormal cardiac atrium morphology	9939	RBM8A	OMIM:274000
HP:0005120	Abnormal cardiac atrium morphology	9451	EIF2AK3	ORPHA:1667
HP:0005120	Abnormal cardiac atrium morphology	37	ACADVL	ORPHA:26793
HP:0005120	Abnormal cardiac atrium morphology	9469	CHST3	OMIM:245600
HP:0005120	Abnormal cardiac atrium morphology	26229	B3GAT3	OMIM:245600
HP:0005120	Abnormal cardiac atrium morphology	7043	TGFB3	OMIM:615582
HP:0005120	Abnormal cardiac atrium morphology	4281	MID1	ORPHA:2745
HP:0005120	Abnormal cardiac atrium morphology	523	ATP6V1A	OMIM:617403
HP:0005120	Abnormal cardiac atrium morphology	7372	UMPS	OMIM:258900
HP:0005120	Abnormal cardiac atrium morphology	529	ATP6V1E1	OMIM:617402
HP:0005120	Abnormal cardiac atrium morphology	84148	KAT8	OMIM:618974
HP:0005120	Abnormal cardiac atrium morphology	5781	PTPN11	OMIM:163950
HP:0005120	Abnormal cardiac atrium morphology	9949	AMMECR1	OMIM:300990
HP:0005120	Abnormal cardiac atrium morphology	7528	YY1	ORPHA:506358
HP:0005120	Abnormal cardiac atrium morphology	7528	YY1	OMIM:617557
HP:0005120	Abnormal cardiac atrium morphology	10735	STAG2	OMIM:301043
HP:0005120	Abnormal cardiac atrium morphology	776	CACNA1D	OMIM:615474
HP:0005120	Abnormal cardiac atrium morphology	54892	NCAPG2	OMIM:618460
HP:0005120	Abnormal cardiac atrium morphology	8425	LTBP4	OMIM:613177
HP:0005120	Abnormal cardiac atrium morphology	1024	CDK8	OMIM:618748
HP:0005120	Abnormal cardiac atrium morphology	4091	SMAD6	OMIM:614823
HP:0005120	Abnormal cardiac atrium morphology	10102	TSFM	OMIM:610505
HP:0005120	Abnormal cardiac atrium morphology	27125	AFF4	ORPHA:444077
HP:0005120	Abnormal cardiac atrium morphology	27125	AFF4	OMIM:616368
HP:0005120	Abnormal cardiac atrium morphology	9578	CDC42BPB	OMIM:619841
HP:0005120	Abnormal cardiac atrium morphology	29998	BICRA	OMIM:619325
HP:0005120	Abnormal cardiac atrium morphology	51506	UFC1	OMIM:618076
HP:0005120	Abnormal cardiac atrium morphology	6392	SDHD	OMIM:619167
HP:0005120	Abnormal cardiac atrium morphology	473	RERE	OMIM:616975
HP:0005120	Abnormal cardiac atrium morphology	23291	FBXW11	OMIM:618914
HP:0005120	Abnormal cardiac atrium morphology	79158	GNPTAB	ORPHA:576
HP:0005120	Abnormal cardiac atrium morphology	4001	LMNB1	OMIM:619179
HP:0005120	Abnormal cardiac atrium morphology	51434	ANAPC7	OMIM:619699
HP:0005120	Abnormal cardiac atrium morphology	5119	CHMP1A	OMIM:614961
HP:0005120	Abnormal cardiac atrium morphology	51008	ASCC1	OMIM:616867
HP:0005120	Abnormal cardiac atrium morphology	29940	DSE	OMIM:615539
HP:0005120	Abnormal cardiac atrium morphology	23389	MED13L	ORPHA:369891
HP:0005120	Abnormal cardiac atrium morphology	23389	MED13L	OMIM:616789
HP:0005120	Abnormal cardiac atrium morphology	79087	ALG12	OMIM:607143
HP:0005120	Abnormal cardiac atrium morphology	79087	ALG12	ORPHA:79324
HP:0005120	Abnormal cardiac atrium morphology	23028	KDM1A	ORPHA:477993
HP:0005120	Abnormal cardiac atrium morphology	1656	DDX6	OMIM:618653
HP:0005120	Abnormal cardiac atrium morphology	1301	COL11A1	OMIM:228520
HP:0005120	Abnormal cardiac atrium morphology	8802	SUCLG1	ORPHA:17
HP:0005120	Abnormal cardiac atrium morphology	6638	SNRPN	ORPHA:177907
HP:0005120	Abnormal cardiac atrium morphology	26227	PHGDH	OMIM:256520
HP:0005120	Abnormal cardiac atrium morphology	6772	STAT1	ORPHA:391487
HP:0005120	Abnormal cardiac atrium morphology	10043	TOM1	ORPHA:391487
HP:0005120	Abnormal cardiac atrium morphology	1763	DNA2	OMIM:615156
HP:0005120	Abnormal cardiac atrium morphology	11222	MRPL3	OMIM:614582
HP:0005120	Abnormal cardiac atrium morphology	91461	PKDCC	OMIM:618821
HP:0005120	Abnormal cardiac atrium morphology	10681	GNB5	OMIM:617182
HP:0005120	Abnormal cardiac atrium morphology	10681	GNB5	ORPHA:542306
HP:0005120	Abnormal cardiac atrium morphology	10651	MTX2	OMIM:619127
HP:0005120	Abnormal cardiac atrium morphology	1857	DVL3	OMIM:616894
HP:0005120	Abnormal cardiac atrium morphology	9739	SETD1A	OMIM:618832
HP:0005120	Abnormal cardiac atrium morphology	7291	TWIST1	OMIM:617746
HP:0005120	Abnormal cardiac atrium morphology	100506658	OCLN	OMIM:251290
HP:0005120	Abnormal cardiac atrium morphology	79971	WLS	OMIM:619648
HP:0005120	Abnormal cardiac atrium morphology	118924	FRA10AC1	OMIM:620113
HP:0005120	Abnormal cardiac atrium morphology	775	CACNA1C	OMIM:601005
HP:0005120	Abnormal cardiac atrium morphology	89970	RSPRY1	ORPHA:457395
HP:0005120	Abnormal cardiac atrium morphology	57479	PRR12	OMIM:619539
HP:0005120	Abnormal cardiac atrium morphology	5879	RAC1	ORPHA:500159
HP:0005120	Abnormal cardiac atrium morphology	8295	TRRAP	OMIM:618454
HP:0005120	Abnormal cardiac atrium morphology	54101	RIPK4	OMIM:263650
HP:0005120	Abnormal cardiac atrium morphology	7319	UBE2A	ORPHA:163956
HP:0005120	Abnormal cardiac atrium morphology	699	BUB1	OMIM:620183
HP:0005120	Abnormal cardiac atrium morphology	91949	COG7	OMIM:608779
HP:0005120	Abnormal cardiac atrium morphology	8294	H4C9	OMIM:619951
HP:0005120	Abnormal cardiac atrium morphology	29081	METTL5	OMIM:618665
HP:0005120	Abnormal cardiac atrium morphology	7026	NR2F2	OMIM:618901
HP:0005120	Abnormal cardiac atrium morphology	6135	RPL11	OMIM:612562
HP:0005120	Abnormal cardiac atrium morphology	10765	KDM5B	OMIM:618109
HP:0005120	Abnormal cardiac atrium morphology	132	ADK	OMIM:614300
HP:0005120	Abnormal cardiac atrium morphology	5396	PRRX1	OMIM:202650
HP:0005120	Abnormal cardiac atrium morphology	490	ATP2B1	OMIM:619910
HP:0005120	Abnormal cardiac atrium morphology	8364	H4C3	OMIM:619758
HP:0005120	Abnormal cardiac atrium morphology	11128	POLR3A	OMIM:264090
HP:0005120	Abnormal cardiac atrium morphology	256297	PTF1A	OMIM:609069
HP:0005120	Abnormal cardiac atrium morphology	83475	DOHH	OMIM:620066
HP:0005120	Abnormal cardiac atrium morphology	55027	HEATR3	OMIM:620072
HP:0005120	Abnormal cardiac atrium morphology	79759	ZNF668	OMIM:620194
HP:0005120	Abnormal cardiac atrium morphology	285590	SH3PXD2B	OMIM:249420
HP:0005120	Abnormal cardiac atrium morphology	6472	SHMT2	OMIM:619121
HP:0005120	Abnormal cardiac atrium morphology	80055	PGAP1	OMIM:615802
HP:0005120	Abnormal cardiac atrium morphology	471	ATIC	OMIM:608688
HP:0005120	Abnormal cardiac atrium morphology	3417	IDH1	ORPHA:99646
HP:0005120	Abnormal cardiac atrium morphology	4763	NF1	OMIM:601321
HP:0005120	Abnormal cardiac atrium morphology	11274	USP18	OMIM:617397
HP:0005120	Abnormal cardiac atrium morphology	7994	KAT6A	OMIM:616268
HP:0005120	Abnormal cardiac atrium morphology	92579	G6PC3	OMIM:612541
HP:0005120	Abnormal cardiac atrium morphology	439	GET3	OMIM:620203
HP:0005120	Abnormal cardiac atrium morphology	9325	TRIP4	OMIM:616866
HP:0005120	Abnormal cardiac atrium morphology	10079	ATP9A	OMIM:620242
HP:0005120	Abnormal cardiac atrium morphology	6910	TBX5	OMIM:142900
HP:0005120	Abnormal cardiac atrium morphology	4212	MEIS2	OMIM:600987
HP:0005120	Abnormal cardiac atrium morphology	55636	CHD7	OMIM:214800
HP:0005120	Abnormal cardiac atrium morphology	59336	PRDM13	OMIM:619909
HP:0005120	Abnormal cardiac atrium morphology	5915	RARB	OMIM:615524
HP:0005120	Abnormal cardiac atrium morphology	64220	STRA6	OMIM:601186
HP:0005120	Abnormal cardiac atrium morphology	25790	CFAP45	OMIM:619608
HP:0005120	Abnormal cardiac atrium morphology	2072	ERCC4	OMIM:615272
HP:0005120	Abnormal cardiac atrium morphology	79989	IFT56	OMIM:619534
HP:0005120	Abnormal cardiac atrium morphology	2626	GATA4	OMIM:614430
HP:0005120	Abnormal cardiac atrium morphology	7547	ZIC3	OMIM:306955
HP:0005120	Abnormal cardiac atrium morphology	4838	NODAL	OMIM:270100
HP:0005120	Abnormal cardiac atrium morphology	2657	GDF1	OMIM:208530
HP:0005120	Abnormal cardiac atrium morphology	55997	CFC1	OMIM:605376
HP:0005120	Abnormal cardiac atrium morphology	25981	DNAH1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	115948	ODAD3	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	54768	HYDIN	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	352909	DNAAF3	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	27148	STK36	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	51314	NME8	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	92749	DRC1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	54970	TTC12	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	152110	NEK10	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	8481	OFD1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	2302	FOXJ1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	221421	RSPH9	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	85478	CCDC65	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	55036	CCDC40	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	51364	ZMYND10	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	64446	DNAI2	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	6674	SPAG1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	83544	DNAL1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	89765	RSPH1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	83538	ODAD4	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	200373	CFAP221	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	374407	DNAJB13	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	55172	DNAAF2	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	161582	DNAAF4	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	2622	GAS8	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	23639	DNAAF11	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	27019	DNAI1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	345895	RSPH4A	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	54919	DNAAF5	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	6103	RPGR	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	388389	CCDC103	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	93233	ODAD1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	55130	ODAD2	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	1767	DNAH5	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	83861	RSPH3	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	345643	MCIDAS	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	56683	CFAP298	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	79925	SPEF2	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	10309	CCNO	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	115399	LRRC56	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	139212	DNAAF6	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	123872	DNAAF1	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	85016	CFAP300	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	339829	CCDC39	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	8701	DNAH11	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	1770	DNAH9	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	246176	GAS2L2	ORPHA:244
HP:0005120	Abnormal cardiac atrium morphology	168507	PKD1L1	OMIM:617205
HP:0005120	Abnormal cardiac atrium morphology	7490	WT1	OMIM:608978
HP:0005120	Abnormal cardiac atrium morphology	2121	EVC	OMIM:225500
HP:0005120	Abnormal cardiac atrium morphology	132884	EVC2	OMIM:225500
HP:0005120	Abnormal cardiac atrium morphology	5567	PRKACB	OMIM:619143
HP:0005120	Abnormal cardiac atrium morphology	93	ACVR2B	OMIM:613751
HP:0005120	Abnormal cardiac atrium morphology	220136	CFAP53	OMIM:614779
HP:0005120	Abnormal cardiac atrium morphology	100128908	CIROP	OMIM:619702
HP:0005120	Abnormal cardiac atrium morphology	118856	MMP21	OMIM:616749
HP:0005120	Abnormal cardiac atrium morphology	6123	RPL3L	OMIM:619371
HP:0005120	Abnormal cardiac atrium morphology	7092	TLL1	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	7092	TLL1	ORPHA:99106
HP:0005120	Abnormal cardiac atrium morphology	57057	TBX20	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	4624	MYH6	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	1482	NKX2-5	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	70	ACTC1	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	10370	CITED2	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	2627	GATA6	ORPHA:99103
HP:0005120	Abnormal cardiac atrium morphology	2316	FLNA	ORPHA:555877
HP:0005120	Abnormal cardiac atrium morphology	55388	MCM10	OMIM:619313
HP:0005120	Abnormal cardiac atrium morphology	4607	MYBPC3	OMIM:115197
HP:0005120	Abnormal cardiac atrium morphology	4633	MYL2	OMIM:619424
HP:0005120	Abnormal cardiac atrium morphology	368	ABCC6	OMIM:614473
HP:0005120	Abnormal cardiac atrium morphology	2318	FLNC	OMIM:617047
HP:0005120	Abnormal cardiac atrium morphology	2318	FLNC	ORPHA:75249
HP:0005120	Abnormal cardiac atrium morphology	4851	NOTCH1	OMIM:616028
HP:0005120	Abnormal cardiac atrium morphology	8815	BANF1	OMIM:614008
HP:0005120	Abnormal cardiac atrium morphology	8777	MPDZ	OMIM:615219
HP:0005120	Abnormal cardiac atrium morphology	7139	TNNT2	OMIM:612422
HP:0005120	Abnormal cardiac atrium morphology	7139	TNNT2	ORPHA:75249
HP:0005120	Abnormal cardiac atrium morphology	84665	MYPN	ORPHA:75249
HP:0005120	Abnormal cardiac atrium morphology	7137	TNNI3	ORPHA:75249
HP:0005120	Abnormal cardiac atrium morphology	10112	KIF20A	ORPHA:75249
HP:0005120	Abnormal cardiac atrium morphology	10551	AGR2	OMIM:620233
HP:0005120	Abnormal cardiac atrium morphology	5337	PLD1	OMIM:212093
HP:0005120	Abnormal cardiac atrium morphology	80206	FHOD3	OMIM:619402
HP:0005120	Abnormal cardiac atrium morphology	442721	LMOD2	OMIM:619897
HP:0005120	Abnormal cardiac atrium morphology	151648	SGO1	OMIM:616201
HP:0005120	Abnormal cardiac atrium morphology	6331	SCN5A	OMIM:614022
HP:0005120	Abnormal cardiac atrium morphology	54914	FOCAD	OMIM:619991
HP:0005120	Abnormal cardiac atrium morphology	9631	NUP155	OMIM:615770
HP:0005120	Abnormal cardiac atrium morphology	8260	NAA10	OMIM:300855
HP:0005120	Abnormal cardiac atrium morphology	6324	SCN1B	OMIM:615377
HP:0005120	Abnormal cardiac atrium morphology	4878	NPPA	OMIM:612201
HP:0005120	Abnormal cardiac atrium morphology	2997	GYS1	OMIM:611556
HP:0005120	Abnormal cardiac atrium morphology	4634	MYL3	OMIM:608751
HP:0005120	Abnormal cardiac atrium morphology	2273	FHL1	OMIM:300280
HP:0005120	Abnormal cardiac atrium morphology	4625	MYH7	OMIM:160500
HP:0005120	Abnormal cardiac atrium morphology	745	MYRF	OMIM:618280
HP:0005120	Abnormal cardiac atrium morphology	55181	SMG8	OMIM:619268
HP:0005120	Abnormal cardiac atrium morphology	10526	IPO8	OMIM:619472
HP:0005121	Posterior scalloping of vertebral bodies	54187	NANS	OMIM:610442
HP:0005121	Posterior scalloping of vertebral bodies	26137	ZBTB20	OMIM:259050
HP:0005121	Posterior scalloping of vertebral bodies	26137	ZBTB20	ORPHA:3042
HP:0005121	Posterior scalloping of vertebral bodies	3835	KIF22	OMIM:603546
HP:0005121	Posterior scalloping of vertebral bodies	153642	ARSK	OMIM:619698
HP:0000822	Hypertension	51726	DNAJB11	OMIM:618061
HP:0000822	Hypertension	51726	DNAJB11	ORPHA:730
HP:0000822	Hypertension	10128	LRPPRC	OMIM:220111
HP:0000822	Hypertension	875	CBS	ORPHA:394
HP:0000822	Hypertension	63036	CELA2A	OMIM:618620
HP:0000822	Hypertension	776	CACNA1D	OMIM:615474
HP:0000822	Hypertension	776	CACNA1D	ORPHA:369929
HP:0000822	Hypertension	2200	FBN1	ORPHA:1885
HP:0000822	Hypertension	2200	FBN1	ORPHA:2833
HP:0000822	Hypertension	2200	FBN1	OMIM:616914
HP:0000822	Hypertension	2200	FBN1	ORPHA:91387
HP:0000822	Hypertension	54507	ADAMTSL4	ORPHA:1885
HP:0000822	Hypertension	8518	ELP1	ORPHA:1764
HP:0000822	Hypertension	8518	ELP1	OMIM:223900
HP:0000822	Hypertension	4010	LMX1B	ORPHA:2613
HP:0000822	Hypertension	57539	WDR35	OMIM:613610
HP:0000822	Hypertension	63924	CIDEC	OMIM:615238
HP:0000822	Hypertension	123263	MTFMT	OMIM:614947
HP:0000822	Hypertension	3291	HSD11B2	OMIM:218030
HP:0000822	Hypertension	3291	HSD11B2	ORPHA:320
HP:0000822	Hypertension	51816	ADA2	ORPHA:820
HP:0000822	Hypertension	51816	ADA2	OMIM:182410
HP:0000822	Hypertension	51816	ADA2	OMIM:615688
HP:0000822	Hypertension	2542	SLC37A4	OMIM:232220
HP:0000822	Hypertension	2542	SLC37A4	OMIM:232240
HP:0000822	Hypertension	2542	SLC37A4	ORPHA:79259
HP:0000822	Hypertension	81839	VANGL1	ORPHA:3027
HP:0000822	Hypertension	80199	FUZ	ORPHA:3027
HP:0000822	Hypertension	1161	ERCC8	ORPHA:90321
HP:0000822	Hypertension	1161	ERCC8	OMIM:216400
HP:0000822	Hypertension	2072	ERCC4	ORPHA:90321
HP:0000822	Hypertension	2072	ERCC4	OMIM:610965
HP:0000822	Hypertension	2074	ERCC6	ORPHA:90321
HP:0000822	Hypertension	2074	ERCC6	OMIM:133540
HP:0000822	Hypertension	5447	POR	ORPHA:95699
HP:0000822	Hypertension	5447	POR	OMIM:201750
HP:0000822	Hypertension	23607	CD2AP	OMIM:607832
HP:0000822	Hypertension	3162	HMOX1	OMIM:614034
HP:0000822	Hypertension	1584	CYP11B1	OMIM:202010
HP:0000822	Hypertension	1584	CYP11B1	ORPHA:90795
HP:0000822	Hypertension	1584	CYP11B1	ORPHA:403
HP:0000822	Hypertension	1584	CYP11B1	OMIM:103900
HP:0000822	Hypertension	4552	MTRR	ORPHA:2169
HP:0000822	Hypertension	55249	YY1AP1	ORPHA:79094
HP:0000822	Hypertension	50940	PDE11A	OMIM:610475
HP:0000822	Hypertension	50940	PDE11A	ORPHA:189439
HP:0000822	Hypertension	50940	PDE11A	ORPHA:1359
HP:0000822	Hypertension	23592	LEMD3	ORPHA:1879
HP:0000822	Hypertension	23592	LEMD3	ORPHA:1306
HP:0000822	Hypertension	1586	CYP17A1	ORPHA:90793
HP:0000822	Hypertension	1586	CYP17A1	OMIM:202110
HP:0000822	Hypertension	23193	GANAB	ORPHA:730
HP:0000822	Hypertension	23193	GANAB	OMIM:600666
HP:0000822	Hypertension	5310	PKD1	ORPHA:730
HP:0000822	Hypertension	5310	PKD1	OMIM:173900
HP:0000822	Hypertension	5311	PKD2	ORPHA:730
HP:0000822	Hypertension	5311	PKD2	OMIM:613095
HP:0000822	Hypertension	29880	ALG5	ORPHA:730
HP:0000822	Hypertension	29880	ALG5	OMIM:620056
HP:0000822	Hypertension	9742	IFT140	ORPHA:730
HP:0000822	Hypertension	9742	IFT140	OMIM:266920
HP:0000822	Hypertension	79796	ALG9	ORPHA:730
HP:0000822	Hypertension	80114	BICC1	ORPHA:730
HP:0000822	Hypertension	4512	MT-CO1	OMIM:540000
HP:0000822	Hypertension	4513	MT-CO2	OMIM:540000
HP:0000822	Hypertension	4514	MT-CO3	OMIM:540000
HP:0000822	Hypertension	4519	MT-CYB	OMIM:540000
HP:0000822	Hypertension	4511	MT-TC	OMIM:540000
HP:0000822	Hypertension	4574	MT-TS1	OMIM:540000
HP:0000822	Hypertension	4575	MT-TS2	OMIM:540000
HP:0000822	Hypertension	4558	MT-TF	OMIM:540000
HP:0000822	Hypertension	4541	MT-ND6	OMIM:540000
HP:0000822	Hypertension	4567	MT-TL1	OMIM:540000
HP:0000822	Hypertension	4567	MT-TL1	ORPHA:225
HP:0000822	Hypertension	4540	MT-ND5	OMIM:540000
HP:0000822	Hypertension	4566	MT-TK	OMIM:540000
HP:0000822	Hypertension	4566	MT-TK	ORPHA:225
HP:0000822	Hypertension	4566	MT-TK	ORPHA:1349
HP:0000822	Hypertension	4535	MT-ND1	OMIM:540000
HP:0000822	Hypertension	4572	MT-TQ	OMIM:540000
HP:0000822	Hypertension	4577	MT-TV	OMIM:540000
HP:0000822	Hypertension	4578	MT-TW	OMIM:540000
HP:0000822	Hypertension	2263	FGFR2	ORPHA:87
HP:0000822	Hypertension	2263	FGFR2	OMIM:123790
HP:0000822	Hypertension	2263	FGFR2	ORPHA:1555
HP:0000822	Hypertension	3043	HBB	OMIM:603903
HP:0000822	Hypertension	3190	HNRNPK	OMIM:616580
HP:0000822	Hypertension	3766	KCNJ10	OMIM:612780
HP:0000822	Hypertension	1889	ECE1	OMIM:613870
HP:0000822	Hypertension	3423	IDS	ORPHA:217085
HP:0000822	Hypertension	3423	IDS	ORPHA:217093
HP:0000822	Hypertension	2538	G6PC1	OMIM:232200
HP:0000822	Hypertension	6327	SCN2B	OMIM:615378
HP:0000822	Hypertension	284252	KCTD1	ORPHA:2036
HP:0000822	Hypertension	284252	KCTD1	OMIM:181270
HP:0000822	Hypertension	6773	STAT2	OMIM:618886
HP:0000822	Hypertension	5468	PPARG	ORPHA:79083
HP:0000822	Hypertension	5468	PPARG	OMIM:604367
HP:0000822	Hypertension	9149	DYRK1B	OMIM:615812
HP:0000822	Hypertension	4352	MPL	ORPHA:729
HP:0000822	Hypertension	3717	JAK2	ORPHA:729
HP:0000822	Hypertension	3717	JAK2	OMIM:133100
HP:0000822	Hypertension	54790	TET2	ORPHA:729
HP:0000822	Hypertension	4000	LMNA	ORPHA:79084
HP:0000822	Hypertension	4000	LMNA	OMIM:151660
HP:0000822	Hypertension	4000	LMNA	ORPHA:79474
HP:0000822	Hypertension	4000	LMNA	ORPHA:740
HP:0000822	Hypertension	4000	LMNA	ORPHA:363618
HP:0000822	Hypertension	5346	PLIN1	OMIM:613877
HP:0000822	Hypertension	5346	PLIN1	ORPHA:280356
HP:0000822	Hypertension	84100	ARL6	OMIM:209900
HP:0000822	Hypertension	84100	ARL6	ORPHA:110
HP:0000822	Hypertension	79140	CCDC28B	OMIM:209900
HP:0000822	Hypertension	582	BBS1	OMIM:209900
HP:0000822	Hypertension	582	BBS1	ORPHA:110
HP:0000822	Hypertension	5573	PRKAR1A	OMIM:610489
HP:0000822	Hypertension	5573	PRKAR1A	ORPHA:1501
HP:0000822	Hypertension	5573	PRKAR1A	ORPHA:189439
HP:0000822	Hypertension	5573	PRKAR1A	ORPHA:1359
HP:0000822	Hypertension	79184	BRCC3	ORPHA:280679
HP:0000822	Hypertension	7490	WT1	OMIM:194080
HP:0000822	Hypertension	7490	WT1	ORPHA:347
HP:0000822	Hypertension	7490	WT1	ORPHA:220
HP:0000822	Hypertension	7490	WT1	ORPHA:654
HP:0000822	Hypertension	7840	ALMS1	OMIM:203800
HP:0000822	Hypertension	7840	ALMS1	ORPHA:64
HP:0000822	Hypertension	83550	GPR101	ORPHA:963
HP:0000822	Hypertension	9049	AIP	ORPHA:963
HP:0000822	Hypertension	9049	AIP	OMIM:102200
HP:0000822	Hypertension	9049	AIP	OMIM:219090
HP:0000822	Hypertension	2332	FMR1	ORPHA:93256
HP:0000822	Hypertension	2332	FMR1	ORPHA:449291
HP:0000822	Hypertension	84133	ZNRF3	ORPHA:1501
HP:0000822	Hypertension	7157	TP53	ORPHA:1501
HP:0000822	Hypertension	7157	TP53	ORPHA:96253
HP:0000822	Hypertension	1499	CTNNB1	ORPHA:1501
HP:0000822	Hypertension	1029	CDKN2A	ORPHA:1501
HP:0000822	Hypertension	7015	TERT	ORPHA:1501
HP:0000822	Hypertension	1181	CLCN2	OMIM:605635
HP:0000822	Hypertension	1181	CLCN2	ORPHA:404
HP:0000822	Hypertension	4313	MMP2	ORPHA:371428
HP:0000822	Hypertension	4323	MMP14	ORPHA:371428
HP:0000822	Hypertension	5139	PDE3A	OMIM:112410
HP:0000822	Hypertension	5139	PDE3A	ORPHA:1276
HP:0000822	Hypertension	1717	DHCR7	OMIM:270400
HP:0000822	Hypertension	1281	COL3A1	ORPHA:286
HP:0000822	Hypertension	1281	COL3A1	ORPHA:231160
HP:0000822	Hypertension	9896	FIG4	ORPHA:3472
HP:0000822	Hypertension	55697	VAC14	ORPHA:3472
HP:0000822	Hypertension	64127	NOD2	OMIM:186580
HP:0000822	Hypertension	64127	NOD2	ORPHA:90340
HP:0000822	Hypertension	54968	TMEM70	OMIM:614052
HP:0000822	Hypertension	659	BMPR2	OMIM:178600
HP:0000822	Hypertension	5167	ENPP1	OMIM:208000
HP:0000822	Hypertension	5167	ENPP1	ORPHA:51608
HP:0000822	Hypertension	5167	ENPP1	ORPHA:758
HP:0000822	Hypertension	9860	LRIG2	ORPHA:2704
HP:0000822	Hypertension	60495	HPSE2	ORPHA:2704
HP:0000822	Hypertension	595	CCND1	OMIM:193300
HP:0000822	Hypertension	595	CCND1	ORPHA:892
HP:0000822	Hypertension	84984	CEP19	OMIM:615703
HP:0000822	Hypertension	84984	CEP19	ORPHA:110
HP:0000822	Hypertension	4582	MUC1	OMIM:174000
HP:0000822	Hypertension	54	ACP5	ORPHA:1855
HP:0000822	Hypertension	4069	LYZ	OMIM:105200
HP:0000822	Hypertension	2243	FGA	OMIM:105200
HP:0000822	Hypertension	335	APOA1	OMIM:105200
HP:0000822	Hypertension	567	B2M	OMIM:105200
HP:0000822	Hypertension	10019	SH2B3	OMIM:133100
HP:0000822	Hypertension	2057	EPOR	OMIM:133100
HP:0000822	Hypertension	92482	BBIP1	ORPHA:110
HP:0000822	Hypertension	80184	CEP290	ORPHA:110
HP:0000822	Hypertension	80184	CEP290	ORPHA:3156
HP:0000822	Hypertension	11020	IFT27	ORPHA:110
HP:0000822	Hypertension	49855	SCAPER	ORPHA:110
HP:0000822	Hypertension	4867	NPHP1	ORPHA:110
HP:0000822	Hypertension	4867	NPHP1	OMIM:256100
HP:0000822	Hypertension	4867	NPHP1	ORPHA:3156
HP:0000822	Hypertension	51057	WDPCP	ORPHA:110
HP:0000822	Hypertension	27241	BBS9	ORPHA:110
HP:0000822	Hypertension	22954	TRIM32	ORPHA:110
HP:0000822	Hypertension	54903	MKS1	ORPHA:110
HP:0000822	Hypertension	79738	BBS10	ORPHA:110
HP:0000822	Hypertension	123016	TTC8	ORPHA:110
HP:0000822	Hypertension	26160	IFT172	ORPHA:110
HP:0000822	Hypertension	583	BBS2	ORPHA:110
HP:0000822	Hypertension	585	BBS4	ORPHA:110
HP:0000822	Hypertension	8195	MKKS	ORPHA:110
HP:0000822	Hypertension	54585	LZTFL1	ORPHA:110
HP:0000822	Hypertension	55212	BBS7	ORPHA:110
HP:0000822	Hypertension	166379	BBS12	ORPHA:110
HP:0000822	Hypertension	10806	SDCCAG8	ORPHA:110
HP:0000822	Hypertension	10806	SDCCAG8	ORPHA:3156
HP:0000822	Hypertension	157657	CFAP418	ORPHA:110
HP:0000822	Hypertension	129880	BBS5	ORPHA:110
HP:0000822	Hypertension	80173	IFT74	ORPHA:110
HP:0000822	Hypertension	7809	BSND	ORPHA:89938
HP:0000822	Hypertension	1188	CLCNKB	ORPHA:89938
HP:0000822	Hypertension	1187	CLCNKA	ORPHA:89938
HP:0000822	Hypertension	5314	PKHD1	OMIM:263200
HP:0000822	Hypertension	5314	PKHD1	ORPHA:731
HP:0000822	Hypertension	5566	PRKACA	OMIM:615830
HP:0000822	Hypertension	5566	PRKACA	ORPHA:189439
HP:0000822	Hypertension	8622	PDE8B	ORPHA:189439
HP:0000822	Hypertension	2321	FLT1	ORPHA:275555
HP:0000822	Hypertension	219736	STOX1	ORPHA:275555
HP:0000822	Hypertension	10699	CORIN	ORPHA:275555
HP:0000822	Hypertension	6804	STX1A	ORPHA:904
HP:0000822	Hypertension	7461	CLIP2	ORPHA:904
HP:0000822	Hypertension	84277	DNAJC30	ORPHA:904
HP:0000822	Hypertension	8468	FKBP6	ORPHA:904
HP:0000822	Hypertension	5982	RFC2	ORPHA:904
HP:0000822	Hypertension	2969	GTF2I	ORPHA:904
HP:0000822	Hypertension	3984	LIMK1	ORPHA:904
HP:0000822	Hypertension	9569	GTF2IRD1	ORPHA:904
HP:0000822	Hypertension	155382	VPS37D	ORPHA:904
HP:0000822	Hypertension	155368	METTL27	ORPHA:904
HP:0000822	Hypertension	114049	BUD23	ORPHA:904
HP:0000822	Hypertension	7458	EIF4H	ORPHA:904
HP:0000822	Hypertension	84163	GTF2IRD2	ORPHA:904
HP:0000822	Hypertension	9275	BCL7B	ORPHA:904
HP:0000822	Hypertension	26608	TBL2	ORPHA:904
HP:0000822	Hypertension	653361	NCF1	ORPHA:904
HP:0000822	Hypertension	135886	TMEM270	ORPHA:904
HP:0000822	Hypertension	51085	MLXIPL	ORPHA:904
HP:0000822	Hypertension	51085	MLXIPL	OMIM:194050
HP:0000822	Hypertension	9031	BAZ1B	ORPHA:904
HP:0000822	Hypertension	2006	ELN	ORPHA:904
HP:0000822	Hypertension	2006	ELN	OMIM:194050
HP:0000822	Hypertension	2006	ELN	ORPHA:91387
HP:0000822	Hypertension	79798	ARMC5	OMIM:615954
HP:0000822	Hypertension	79798	ARMC5	ORPHA:189427
HP:0000822	Hypertension	8364	H4C3	OMIM:619758
HP:0000822	Hypertension	81031	SLC2A10	ORPHA:3342
HP:0000822	Hypertension	81031	SLC2A10	OMIM:208050
HP:0000822	Hypertension	1493	CTLA4	ORPHA:900
HP:0000822	Hypertension	26191	PTPN22	ORPHA:900
HP:0000822	Hypertension	3115	HLA-DPB1	ORPHA:900
HP:0000822	Hypertension	5657	PRTN3	ORPHA:900
HP:0000822	Hypertension	3113	HLA-DPA1	ORPHA:900
HP:0000822	Hypertension	7486	WRN	ORPHA:902
HP:0000822	Hypertension	4556	MT-TE	ORPHA:225
HP:0000822	Hypertension	4040	LRP6	OMIM:610947
HP:0000822	Hypertension	5244	ABCB4	ORPHA:69663
HP:0000822	Hypertension	4089	SMAD4	OMIM:139210
HP:0000822	Hypertension	4089	SMAD4	ORPHA:2588
HP:0000822	Hypertension	4089	SMAD4	ORPHA:91387
HP:0000822	Hypertension	2908	NR3C1	OMIM:615962
HP:0000822	Hypertension	2908	NR3C1	ORPHA:786
HP:0000822	Hypertension	2908	NR3C1	ORPHA:96253
HP:0000822	Hypertension	50485	SMARCAL1	ORPHA:1830
HP:0000822	Hypertension	50485	SMARCAL1	OMIM:242900
HP:0000822	Hypertension	4982	TNFRSF11B	ORPHA:2801
HP:0000822	Hypertension	8792	TNFRSF11A	ORPHA:2801
HP:0000822	Hypertension	2778	GNAS	ORPHA:189427
HP:0000822	Hypertension	2778	GNAS	ORPHA:79443
HP:0000822	Hypertension	2778	GNAS	OMIM:219080
HP:0000822	Hypertension	8481	OFD1	OMIM:311200
HP:0000822	Hypertension	8481	OFD1	ORPHA:2750
HP:0000822	Hypertension	64135	IFIH1	OMIM:615846
HP:0000822	Hypertension	866	SERPINA6	OMIM:611489
HP:0000822	Hypertension	10253	SPRY2	OMIM:616818
HP:0000822	Hypertension	4851	NOTCH1	ORPHA:402075
HP:0000822	Hypertension	1482	NKX2-5	ORPHA:402075
HP:0000822	Hypertension	140628	GATA5	ORPHA:402075
HP:0000822	Hypertension	4091	SMAD6	ORPHA:402075
HP:0000822	Hypertension	4205	MEF2A	OMIM:608320
HP:0000822	Hypertension	38	ACAT1	ORPHA:134
HP:0000822	Hypertension	9968	MED12	OMIM:301068
HP:0000822	Hypertension	4854	NOTCH3	ORPHA:136
HP:0000822	Hypertension	4846	NOS3	OMIM:189800
HP:0000822	Hypertension	7355	SLC35A2	OMIM:300896
HP:0000822	Hypertension	2717	GLA	OMIM:301500
HP:0000822	Hypertension	2717	GLA	ORPHA:324
HP:0000822	Hypertension	4193	MDM2	OMIM:618681
HP:0000822	Hypertension	10463	SLC30A9	OMIM:617595
HP:0000822	Hypertension	3762	KCNJ5	OMIM:613677
HP:0000822	Hypertension	3762	KCNJ5	ORPHA:251274
HP:0000822	Hypertension	50628	GEMIN4	OMIM:617913
HP:0000822	Hypertension	3458	IFNG	ORPHA:805
HP:0000822	Hypertension	7248	TSC1	ORPHA:805
HP:0000822	Hypertension	7249	TSC2	ORPHA:805
HP:0000822	Hypertension	3081	HGD	ORPHA:56
HP:0000822	Hypertension	11277	TREX1	ORPHA:247691
HP:0000822	Hypertension	3991	LIPE	OMIM:615980
HP:0000822	Hypertension	667	DST	OMIM:614653
HP:0000822	Hypertension	51025	PAM16	OMIM:613320
HP:0000822	Hypertension	51134	CEP83	OMIM:615862
HP:0000822	Hypertension	3075	CFH	OMIM:235400
HP:0000822	Hypertension	3078	CFHR1	OMIM:235400
HP:0000822	Hypertension	10878	CFHR3	OMIM:235400
HP:0000822	Hypertension	94	ACVRL1	OMIM:600376
HP:0000822	Hypertension	5076	PAX2	ORPHA:97362
HP:0000822	Hypertension	5076	PAX2	OMIM:120330
HP:0000822	Hypertension	5087	PBX1	ORPHA:97362
HP:0000822	Hypertension	286053	NSMCE2	OMIM:617253
HP:0000822	Hypertension	2982	GUCY1A1	OMIM:615750
HP:0000822	Hypertension	2982	GUCY1A1	ORPHA:401945
HP:0000822	Hypertension	4160	MC4R	ORPHA:71529
HP:0000822	Hypertension	100151683	RNU4ATAC	OMIM:210710
HP:0000822	Hypertension	65062	TMEM237	OMIM:614424
HP:0000822	Hypertension	3875	KRT18	OMIM:215600
HP:0000822	Hypertension	4179	CD46	OMIM:612922
HP:0000822	Hypertension	629	CFB	OMIM:612924
HP:0000822	Hypertension	3426	CFI	OMIM:612923
HP:0000822	Hypertension	10058	ABCB6	ORPHA:90044
HP:0000822	Hypertension	7056	THBD	OMIM:612926
HP:0000822	Hypertension	718	C3	OMIM:612925
HP:0000822	Hypertension	91147	TMEM67	OMIM:216360
HP:0000822	Hypertension	91147	TMEM67	ORPHA:84081
HP:0000822	Hypertension	26580	BSCL2	ORPHA:363400
HP:0000822	Hypertension	23395	LARS2	OMIM:617021
HP:0000822	Hypertension	6340	SCNN1G	OMIM:618114
HP:0000822	Hypertension	6340	SCNN1G	ORPHA:526
HP:0000822	Hypertension	10229	COQ7	OMIM:616733
HP:0000822	Hypertension	137682	NDUFAF6	OMIM:618913
HP:0000822	Hypertension	8912	CACNA1H	OMIM:617027
HP:0000822	Hypertension	1287	COL4A5	OMIM:301050
HP:0000822	Hypertension	5978	REST	ORPHA:654
HP:0000822	Hypertension	129563	DIS3L2	ORPHA:654
HP:0000822	Hypertension	675	BRCA2	ORPHA:654
HP:0000822	Hypertension	9319	TRIP13	ORPHA:654
HP:0000822	Hypertension	10155	TRIM28	ORPHA:654
HP:0000822	Hypertension	11281	POU6F2	ORPHA:654
HP:0000822	Hypertension	2719	GPC3	ORPHA:654
HP:0000822	Hypertension	283120	H19	ORPHA:654
HP:0000822	Hypertension	3949	LDLR	ORPHA:391665
HP:0000822	Hypertension	255738	PCSK9	ORPHA:391665
HP:0000822	Hypertension	26119	LDLRAP1	ORPHA:391665
HP:0000822	Hypertension	338	APOB	ORPHA:391665
HP:0000822	Hypertension	64240	ABCG5	ORPHA:391665
HP:0000822	Hypertension	64241	ABCG8	ORPHA:391665
HP:0000822	Hypertension	4784	NFIX	OMIM:602535
HP:0000822	Hypertension	84196	USP48	ORPHA:96253
HP:0000822	Hypertension	9101	USP8	ORPHA:96253
HP:0000822	Hypertension	9101	USP8	OMIM:219090
HP:0000822	Hypertension	64072	CDH23	ORPHA:96253
HP:0000822	Hypertension	64072	CDH23	ORPHA:91347
HP:0000822	Hypertension	673	BRAF	ORPHA:96253
HP:0000822	Hypertension	546	ATRX	ORPHA:96253
HP:0000822	Hypertension	6337	SCNN1A	OMIM:618126
HP:0000822	Hypertension	6337	SCNN1A	ORPHA:526
HP:0000822	Hypertension	1956	EGFR	OMIM:616069
HP:0000822	Hypertension	50619	DEF6	OMIM:619573
HP:0000822	Hypertension	64423	INF2	OMIM:613237
HP:0000822	Hypertension	3913	LAMB2	OMIM:609049
HP:0000822	Hypertension	5277	PIGA	ORPHA:447
HP:0000822	Hypertension	4306	NR3C2	OMIM:605115
HP:0000822	Hypertension	5498	PPOX	ORPHA:79473
HP:0000822	Hypertension	55644	OSGEP	OMIM:617729
HP:0000822	Hypertension	27130	INVS	OMIM:602088
HP:0000822	Hypertension	27130	INVS	ORPHA:3156
HP:0000822	Hypertension	2328	FMO3	OMIM:602079
HP:0000822	Hypertension	1589	CYP21A2	OMIM:201910
HP:0000822	Hypertension	7225	TRPC6	OMIM:603965
HP:0000822	Hypertension	6338	SCNN1B	OMIM:177200
HP:0000822	Hypertension	6338	SCNN1B	ORPHA:526
HP:0000822	Hypertension	4625	MYH7	ORPHA:437572
HP:0000822	Hypertension	368	ABCC6	ORPHA:51608
HP:0000822	Hypertension	368	ABCC6	OMIM:264800
HP:0000822	Hypertension	368	ABCC6	OMIM:614473
HP:0000822	Hypertension	368	ABCC6	ORPHA:758
HP:0000822	Hypertension	57545	CC2D2A	OMIM:619111
HP:0000822	Hypertension	2643	GCH1	ORPHA:98808
HP:0000822	Hypertension	4929	NR4A2	ORPHA:98808
HP:0000822	Hypertension	3615	IMPDH2	ORPHA:98808
HP:0000822	Hypertension	1285	COL4A3	OMIM:203780
HP:0000822	Hypertension	1285	COL4A3	OMIM:104200
HP:0000822	Hypertension	1286	COL4A4	OMIM:203780
HP:0000822	Hypertension	199221	DZIP1L	OMIM:617610
HP:0000822	Hypertension	199221	DZIP1L	ORPHA:731
HP:0000822	Hypertension	57514	ARHGAP31	OMIM:100300
HP:0000822	Hypertension	54796	BNC2	ORPHA:93110
HP:0000822	Hypertension	2335	FN1	ORPHA:84090
HP:0000822	Hypertension	2335	FN1	OMIM:601894
HP:0000822	Hypertension	3425	IDUA	ORPHA:93473
HP:0000822	Hypertension	79783	SUGCT	OMIM:231690
HP:0000822	Hypertension	2132	EXT2	ORPHA:52022
HP:0000822	Hypertension	60529	ALX4	ORPHA:52022
HP:0000822	Hypertension	51317	PHF21A	ORPHA:52022
HP:0000822	Hypertension	81	ACTN4	OMIM:603278
HP:0000822	Hypertension	10269	ZMPSTE24	ORPHA:740
HP:0000822	Hypertension	51360	MBTPS2	OMIM:308205
HP:0000822	Hypertension	60401	EDA2R	ORPHA:181
HP:0000822	Hypertension	1896	EDA	ORPHA:181
HP:0000822	Hypertension	100147744	RNU7-1	OMIM:619487
HP:0000822	Hypertension	2629	GBA1	OMIM:230800
HP:0000822	Hypertension	64131	XYLT1	OMIM:264800
HP:0000822	Hypertension	64132	XYLT2	OMIM:264800
HP:0000822	Hypertension	51473	DCDC2	ORPHA:84081
HP:0000822	Hypertension	5654	HTRA1	OMIM:616779
HP:0000822	Hypertension	3145	HMBS	OMIM:176000
HP:0000822	Hypertension	3145	HMBS	ORPHA:79276
HP:0000822	Hypertension	353	APRT	ORPHA:976
HP:0000822	Hypertension	5456	POU3F4	ORPHA:1435
HP:0000822	Hypertension	4221	MEN1	ORPHA:652
HP:0000822	Hypertension	1027	CDKN1B	ORPHA:652
HP:0000822	Hypertension	1026	CDKN1A	ORPHA:652
HP:0000822	Hypertension	1030	CDKN2B	ORPHA:652
HP:0000822	Hypertension	1031	CDKN2C	ORPHA:652
HP:0000822	Hypertension	4256	MGP	OMIM:245150
HP:0000822	Hypertension	8815	BANF1	OMIM:614008
HP:0000822	Hypertension	63929	XPNPEP3	OMIM:613159
HP:0000822	Hypertension	59	ACTA2	OMIM:613834
HP:0000822	Hypertension	59	ACTA2	ORPHA:91387
HP:0000822	Hypertension	4853	NOTCH2	OMIM:610205
HP:0000822	Hypertension	1371	CPOX	OMIM:121300
HP:0000822	Hypertension	1585	CYP11B2	ORPHA:403
HP:0000822	Hypertension	65266	WNK4	OMIM:614491
HP:0000822	Hypertension	65125	WNK1	OMIM:614492
HP:0000822	Hypertension	8516	ITGA8	OMIM:191830
HP:0000822	Hypertension	23404	EXOSC2	OMIM:617763
HP:0000822	Hypertension	26249	KLHL3	OMIM:614495
HP:0000822	Hypertension	8452	CUL3	OMIM:614496
HP:0000822	Hypertension	9935	MAFB	OMIM:166300
HP:0000822	Hypertension	26146	TRAF3IP1	ORPHA:3156
HP:0000822	Hypertension	9657	IQCB1	ORPHA:3156
HP:0000822	Hypertension	261734	NPHP4	ORPHA:3156
HP:0000822	Hypertension	57728	WDR19	ORPHA:3156
HP:0000822	Hypertension	27031	NPHP3	ORPHA:3156
HP:0000822	Hypertension	22897	CEP164	ORPHA:3156
HP:0000822	Hypertension	4629	MYH11	ORPHA:91387
HP:0000822	Hypertension	7046	TGFBR1	ORPHA:91387
HP:0000822	Hypertension	7048	TGFBR2	ORPHA:91387
HP:0000822	Hypertension	4015	LOX	ORPHA:91387
HP:0000822	Hypertension	4087	SMAD2	ORPHA:91387
HP:0000822	Hypertension	7043	TGFB3	ORPHA:91387
HP:0000822	Hypertension	4088	SMAD3	ORPHA:91387
HP:0000822	Hypertension	7042	TGFB2	ORPHA:91387
HP:0000822	Hypertension	5592	PRKG1	ORPHA:91387
HP:0000822	Hypertension	2301	FOXE3	ORPHA:91387
HP:0000822	Hypertension	4144	MAT2A	ORPHA:91387
HP:0000822	Hypertension	23493	HEY2	ORPHA:91387
HP:0000822	Hypertension	8076	MFAP5	ORPHA:91387
HP:0000822	Hypertension	4638	MYLK	ORPHA:91387
HP:0000822	Hypertension	55901	THSD1	ORPHA:231160
HP:0000822	Hypertension	7049	TGFBR3	ORPHA:231160
HP:0000822	Hypertension	83854	ANGPTL6	ORPHA:231160
HP:0000822	Hypertension	2022	ENG	ORPHA:231160
HP:0000822	Hypertension	10660	LBX1	OMIM:619483
HP:0000822	Hypertension	55654	TMEM127	OMIM:171300
HP:0000822	Hypertension	55654	TMEM127	ORPHA:29072
HP:0000822	Hypertension	5979	RET	OMIM:171300
HP:0000822	Hypertension	5979	RET	ORPHA:29072
HP:0000822	Hypertension	5979	RET	ORPHA:276621
HP:0000822	Hypertension	6390	SDHB	OMIM:171300
HP:0000822	Hypertension	6390	SDHB	ORPHA:29072
HP:0000822	Hypertension	6390	SDHB	ORPHA:276621
HP:0000822	Hypertension	6392	SDHD	OMIM:171300
HP:0000822	Hypertension	6392	SDHD	ORPHA:29072
HP:0000822	Hypertension	6392	SDHD	ORPHA:276621
HP:0000822	Hypertension	4149	MAX	OMIM:171300
HP:0000822	Hypertension	4149	MAX	ORPHA:29072
HP:0000822	Hypertension	7428	VHL	OMIM:171300
HP:0000822	Hypertension	7428	VHL	ORPHA:29072
HP:0000822	Hypertension	7428	VHL	ORPHA:276621
HP:0000822	Hypertension	1743	DLST	ORPHA:29072
HP:0000822	Hypertension	4191	MDH2	ORPHA:29072
HP:0000822	Hypertension	6389	SDHA	ORPHA:29072
HP:0000822	Hypertension	23095	KIF1B	ORPHA:29072
HP:0000822	Hypertension	2271	FH	ORPHA:29072
HP:0000822	Hypertension	8402	SLC25A11	ORPHA:29072
HP:0000822	Hypertension	54949	SDHAF2	ORPHA:29072
HP:0000822	Hypertension	4763	NF1	ORPHA:29072
HP:0000822	Hypertension	6391	SDHC	ORPHA:29072
HP:0000822	Hypertension	1788	DNMT3A	ORPHA:276621
HP:0000822	Hypertension	2034	EPAS1	ORPHA:276621
HP:0000822	Hypertension	1235	CCR6	ORPHA:220393
HP:0000822	Hypertension	1490	CCN2	ORPHA:220393
HP:0000822	Hypertension	3663	IRF5	ORPHA:220393
HP:0000822	Hypertension	857	CAV1	ORPHA:220393
HP:0000822	Hypertension	3123	HLA-DRB1	ORPHA:220393
HP:0000822	Hypertension	3593	IL12B	ORPHA:3287
HP:0000822	Hypertension	3106	HLA-B	ORPHA:3287
HP:0000822	Hypertension	6945	MLX	ORPHA:3287
HP:0000822	Hypertension	1312	COMT	ORPHA:567
HP:0000822	Hypertension	221037	JMJD1C	ORPHA:567
HP:0000822	Hypertension	2812	GP1BB	ORPHA:567
HP:0000822	Hypertension	6239	RREB1	ORPHA:567
HP:0000822	Hypertension	6899	TBX1	ORPHA:567
HP:0000822	Hypertension	7290	HIRA	ORPHA:567
HP:0000822	Hypertension	9632	SEC24C	ORPHA:567
HP:0000822	Hypertension	7353	UFD1	ORPHA:567
HP:0000822	Hypertension	421	ARVCF	ORPHA:567
HP:0000822	Hypertension	51284	TLR7	OMIM:301080
HP:0000822	Hypertension	389827	MYMK	ORPHA:1358
HP:0000822	Hypertension	101929726	MYMX	ORPHA:1358
HP:0000822	Hypertension	6772	STAT1	ORPHA:391487
HP:0000822	Hypertension	10043	TOM1	ORPHA:391487
HP:0005129	Congenital hypertrophy of left ventricle	10060	ABCC9	OMIM:239850
HP:0025568	Abnormal morphology of the choroidal vasculature	2776	GNAQ	OMIM:185300
HP:0025568	Abnormal morphology of the choroidal vasculature	11235	PDCD10	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	83605	CCM2	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	889	KRIT1	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	2202	EFEMP1	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3075	CFH	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3426	CFI	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3426	CFI	OMIM:615439
HP:0025568	Abnormal morphology of the choroidal vasculature	3105	HLA-A	ORPHA:179
HP:0025568	Abnormal morphology of the choroidal vasculature	114902	C1QTNF5	ORPHA:67042
HP:0025568	Abnormal morphology of the choroidal vasculature	114902	C1QTNF5	OMIM:605670
HP:0025568	Abnormal morphology of the choroidal vasculature	64131	XYLT1	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	64132	XYLT2	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	368	ABCC6	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	368	ABCC6	ORPHA:51608
HP:0025568	Abnormal morphology of the choroidal vasculature	1181	CLCN2	OMIM:615651
HP:0025568	Abnormal morphology of the choroidal vasculature	5961	PRPH2	OMIM:169150
HP:0025568	Abnormal morphology of the choroidal vasculature	5961	PRPH2	OMIM:608161
HP:0025568	Abnormal morphology of the choroidal vasculature	5167	ENPP1	ORPHA:51608
HP:0025568	Abnormal morphology of the choroidal vasculature	7867	MAPKAPK3	OMIM:617111
HP:0025568	Abnormal morphology of the choroidal vasculature	189	AGXT	OMIM:259900
HP:0025568	Abnormal morphology of the choroidal vasculature	7078	TIMP3	ORPHA:59181
HP:0025568	Abnormal morphology of the choroidal vasculature	7123	CLEC3B	OMIM:619977
HP:0025568	Abnormal morphology of the choroidal vasculature	2201	FBN2	OMIM:616118
HP:0025568	Abnormal morphology of the choroidal vasculature	10516	FBLN5	OMIM:608895
HP:0025568	Abnormal morphology of the choroidal vasculature	348	APOE	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	83872	HMCN1	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	3078	CFHR1	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	10878	CFHR3	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	2192	FBLN1	ORPHA:404451
HP:0001723	Restrictive cardiomyopathy	7137	TNNI3	OMIM:115210
HP:0001723	Restrictive cardiomyopathy	10112	KIF20A	OMIM:619433
HP:0001723	Restrictive cardiomyopathy	64131	XYLT1	OMIM:264800
HP:0001723	Restrictive cardiomyopathy	64132	XYLT2	OMIM:264800
HP:0001723	Restrictive cardiomyopathy	368	ABCC6	OMIM:264800
HP:0001723	Restrictive cardiomyopathy	368	ABCC6	ORPHA:758
HP:0001723	Restrictive cardiomyopathy	55388	MCM10	OMIM:619313
HP:0001723	Restrictive cardiomyopathy	4633	MYL2	OMIM:619424
HP:0001723	Restrictive cardiomyopathy	1062	CENPE	OMIM:616051
HP:0001723	Restrictive cardiomyopathy	51604	PIGT	OMIM:615398
HP:0001723	Restrictive cardiomyopathy	51604	PIGT	ORPHA:369837
HP:0001723	Restrictive cardiomyopathy	1674	DES	OMIM:601419
HP:0001723	Restrictive cardiomyopathy	2316	FLNA	ORPHA:88630
HP:0001723	Restrictive cardiomyopathy	7276	TTR	ORPHA:85451
HP:0001723	Restrictive cardiomyopathy	70	ACTC1	OMIM:613424
HP:0001723	Restrictive cardiomyopathy	7139	TNNT2	OMIM:612422
HP:0001723	Restrictive cardiomyopathy	5167	ENPP1	ORPHA:758
HP:0001723	Restrictive cardiomyopathy	5156	PDGFRA	OMIM:607685
HP:0001723	Restrictive cardiomyopathy	9531	BAG3	OMIM:612954
HP:0001723	Restrictive cardiomyopathy	4634	MYL3	OMIM:608751
HP:0001723	Restrictive cardiomyopathy	2038	EPB42	ORPHA:822
HP:0001723	Restrictive cardiomyopathy	6521	SLC4A1	ORPHA:822
HP:0001723	Restrictive cardiomyopathy	6710	SPTB	ORPHA:822
HP:0001723	Restrictive cardiomyopathy	6708	SPTA1	ORPHA:822
HP:0001723	Restrictive cardiomyopathy	286	ANK1	ORPHA:822
HP:0005134	Absence of the pulmonary valve	2324	FLT4	OMIM:618780
HP:0005132	Pericardial constriction	4591	TRIM37	OMIM:253250
HP:0005133	Right ventricular dilatation	79796	ALG9	ORPHA:79328
HP:0005133	Right ventricular dilatation	7092	TLL1	ORPHA:99103
HP:0005133	Right ventricular dilatation	7092	TLL1	ORPHA:99106
HP:0005133	Right ventricular dilatation	57057	TBX20	ORPHA:99103
HP:0005133	Right ventricular dilatation	4624	MYH6	ORPHA:99103
HP:0005133	Right ventricular dilatation	1482	NKX2-5	ORPHA:99103
HP:0005133	Right ventricular dilatation	70	ACTC1	ORPHA:99103
HP:0005133	Right ventricular dilatation	10370	CITED2	ORPHA:99103
HP:0005133	Right ventricular dilatation	10370	CITED2	ORPHA:99105
HP:0005133	Right ventricular dilatation	2626	GATA4	ORPHA:99103
HP:0005133	Right ventricular dilatation	2627	GATA6	ORPHA:99103
HP:0005133	Right ventricular dilatation	60684	TRAPPC11	ORPHA:369840
HP:0005133	Right ventricular dilatation	60684	TRAPPC11	ORPHA:369847
HP:0005133	Right ventricular dilatation	6331	SCN5A	OMIM:614022
HP:0005133	Right ventricular dilatation	10526	IPO8	OMIM:619472
HP:0005133	Right ventricular dilatation	96459	FNIP1	OMIM:619705
HP:0005133	Right ventricular dilatation	1000	CDH2	OMIM:618920
HP:0005133	Right ventricular dilatation	6445	SGCG	OMIM:253700
HP:0005133	Right ventricular dilatation	29119	CTNNA3	OMIM:615616
HP:0005135	Abnormal T-wave	3753	KCNE1	ORPHA:101016
HP:0005135	Abnormal T-wave	3762	KCNJ5	ORPHA:101016
HP:0005135	Abnormal T-wave	3762	KCNJ5	ORPHA:37553
HP:0005135	Abnormal T-wave	805	CALM2	ORPHA:101016
HP:0005135	Abnormal T-wave	6910	TBX5	ORPHA:101016
HP:0005135	Abnormal T-wave	6336	SCN10A	ORPHA:101016
HP:0005135	Abnormal T-wave	3757	KCNH2	ORPHA:101016
HP:0005135	Abnormal T-wave	9992	KCNE2	ORPHA:101016
HP:0005135	Abnormal T-wave	10142	AKAP9	ORPHA:101016
HP:0005135	Abnormal T-wave	9722	NOS1AP	ORPHA:101016
HP:0005135	Abnormal T-wave	775	CACNA1C	ORPHA:101016
HP:0005135	Abnormal T-wave	3784	KCNQ1	ORPHA:101016
HP:0005135	Abnormal T-wave	10345	TRDN	ORPHA:101016
HP:0005135	Abnormal T-wave	6331	SCN5A	ORPHA:101016
HP:0005135	Abnormal T-wave	6640	SNTA1	ORPHA:101016
HP:0005135	Abnormal T-wave	859	CAV3	ORPHA:101016
HP:0005135	Abnormal T-wave	287	ANK2	ORPHA:101016
HP:0005135	Abnormal T-wave	2972	BRF1	ORPHA:444072
HP:0005135	Abnormal T-wave	80067	DCAF17	OMIM:241080
HP:0005135	Abnormal T-wave	80067	DCAF17	ORPHA:3464
HP:0005135	Abnormal T-wave	4204	MECP2	OMIM:312750
HP:0005135	Abnormal T-wave	773	CACNA1A	ORPHA:2131
HP:0005135	Abnormal T-wave	6507	SLC1A3	ORPHA:2131
HP:0005135	Abnormal T-wave	477	ATP1A2	ORPHA:2131
HP:0005135	Abnormal T-wave	478	ATP1A3	ORPHA:2131
HP:0005135	Abnormal T-wave	6261	RYR1	ORPHA:466650
HP:0005135	Abnormal T-wave	1188	CLCNKB	ORPHA:358
HP:0005135	Abnormal T-wave	6559	SLC12A3	ORPHA:358
HP:0005135	Abnormal T-wave	3759	KCNJ2	ORPHA:37553
HP:0005135	Abnormal T-wave	4633	MYL2	OMIM:608758
HP:0005135	Abnormal T-wave	3728	JUP	OMIM:601214
HP:0005135	Abnormal T-wave	3728	JUP	OMIM:611528
HP:0005135	Abnormal T-wave	1201	CLN3	ORPHA:228346
HP:0005135	Abnormal T-wave	51422	PRKAG2	OMIM:261740
HP:0005135	Abnormal T-wave	2992	GYG1	ORPHA:263297
HP:0005135	Abnormal T-wave	2992	GYG1	OMIM:613507
HP:0005135	Abnormal T-wave	4634	MYL3	OMIM:608751
HP:0005135	Abnormal T-wave	6330	SCN4B	OMIM:611819
HP:0005135	Abnormal T-wave	801	CALM1	OMIM:616247
HP:0005135	Abnormal T-wave	808	CALM3	OMIM:618782
HP:0005135	Abnormal T-wave	144245	ALG10B	OMIM:613688
HP:0005136	Mitral annular calcification	2200	FBN1	OMIM:154700
HP:0001688	Sinus bradycardia	859	CAV3	OMIM:611818
HP:0001688	Sinus bradycardia	859	CAV3	ORPHA:101016
HP:0001688	Sinus bradycardia	10021	HCN4	OMIM:163800
HP:0001688	Sinus bradycardia	801	CALM1	ORPHA:101016
HP:0001688	Sinus bradycardia	3753	KCNE1	ORPHA:101016
HP:0001688	Sinus bradycardia	3753	KCNE1	OMIM:613695
HP:0001688	Sinus bradycardia	3762	KCNJ5	ORPHA:101016
HP:0001688	Sinus bradycardia	805	CALM2	ORPHA:101016
HP:0001688	Sinus bradycardia	805	CALM2	OMIM:616249
HP:0001688	Sinus bradycardia	6910	TBX5	ORPHA:101016
HP:0001688	Sinus bradycardia	6336	SCN10A	ORPHA:101016
HP:0001688	Sinus bradycardia	3757	KCNH2	ORPHA:101016
HP:0001688	Sinus bradycardia	9992	KCNE2	ORPHA:101016
HP:0001688	Sinus bradycardia	10142	AKAP9	ORPHA:101016
HP:0001688	Sinus bradycardia	9722	NOS1AP	ORPHA:101016
HP:0001688	Sinus bradycardia	775	CACNA1C	ORPHA:101016
HP:0001688	Sinus bradycardia	775	CACNA1C	OMIM:618447
HP:0001688	Sinus bradycardia	3784	KCNQ1	ORPHA:101016
HP:0001688	Sinus bradycardia	10345	TRDN	ORPHA:101016
HP:0001688	Sinus bradycardia	6331	SCN5A	ORPHA:101016
HP:0001688	Sinus bradycardia	6331	SCN5A	OMIM:608567
HP:0001688	Sinus bradycardia	6330	SCN4B	ORPHA:101016
HP:0001688	Sinus bradycardia	808	CALM3	ORPHA:101016
HP:0001688	Sinus bradycardia	6640	SNTA1	ORPHA:101016
HP:0001688	Sinus bradycardia	287	ANK2	ORPHA:101016
HP:0001688	Sinus bradycardia	287	ANK2	OMIM:600919
HP:0001688	Sinus bradycardia	283446	MYO1H	OMIM:619482
HP:0001688	Sinus bradycardia	51422	PRKAG2	OMIM:600858
HP:0001688	Sinus bradycardia	4000	LMNA	OMIM:115200
HP:0001688	Sinus bradycardia	341208	HEPHL1	OMIM:261990
HP:0001688	Sinus bradycardia	3741	KCNA5	OMIM:612240
HP:0001688	Sinus bradycardia	84340	GFM2	OMIM:618397
HP:0001688	Sinus bradycardia	2783	GNB2	OMIM:619464
HP:0001688	Sinus bradycardia	51086	TNNI3K	OMIM:616117
HP:0001688	Sinus bradycardia	11149	BVES	OMIM:616812
HP:0001688	Sinus bradycardia	7139	TNNT2	OMIM:601494
HP:0001677	Coronary artery atherosclerosis	6609	SMPD1	ORPHA:77293
HP:0001677	Coronary artery atherosclerosis	63036	CELA2A	OMIM:618620
HP:0001677	Coronary artery atherosclerosis	336	APOA2	OMIM:143890
HP:0001677	Coronary artery atherosclerosis	2053	EPHX2	OMIM:143890
HP:0001677	Coronary artery atherosclerosis	10842	PPP1R17	OMIM:143890
HP:0001677	Coronary artery atherosclerosis	2690	GHR	OMIM:143890
HP:0001677	Coronary artery atherosclerosis	5468	PPARG	ORPHA:79083
HP:0001677	Coronary artery atherosclerosis	4629	MYH11	OMIM:132900
HP:0001677	Coronary artery atherosclerosis	4629	MYH11	ORPHA:229
HP:0001677	Coronary artery atherosclerosis	4629	MYH11	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	79184	BRCC3	ORPHA:280679
HP:0001677	Coronary artery atherosclerosis	1581	CYP7A1	ORPHA:209902
HP:0001677	Coronary artery atherosclerosis	2099	ESR1	ORPHA:785
HP:0001677	Coronary artery atherosclerosis	57104	PNPLA2	ORPHA:565612
HP:0001677	Coronary artery atherosclerosis	64131	XYLT1	OMIM:264800
HP:0001677	Coronary artery atherosclerosis	64132	XYLT2	OMIM:264800
HP:0001677	Coronary artery atherosclerosis	368	ABCC6	OMIM:264800
HP:0001677	Coronary artery atherosclerosis	4015	LOX	OMIM:617168
HP:0001677	Coronary artery atherosclerosis	4015	LOX	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	57592	ZNF687	OMIM:616833
HP:0001677	Coronary artery atherosclerosis	7046	TGFBR1	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	7048	TGFBR2	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	4087	SMAD2	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	7043	TGFB3	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	4088	SMAD3	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	7042	TGFB2	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	4089	SMAD4	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	2200	FBN1	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	5592	PRKG1	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	2301	FOXE3	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	4144	MAT2A	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	23493	HEY2	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	8076	MFAP5	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	4638	MYLK	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	2006	ELN	ORPHA:91387
HP:0001677	Coronary artery atherosclerosis	3053	SERPIND1	OMIM:612356
HP:0001677	Coronary artery atherosclerosis	3949	LDLR	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	338	APOB	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	64240	ABCG5	OMIM:618666
HP:0001677	Coronary artery atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0001677	Coronary artery atherosclerosis	3990	LIPC	ORPHA:140905
HP:0001677	Coronary artery atherosclerosis	335	APOA1	OMIM:618463
HP:0001677	Coronary artery atherosclerosis	335	APOA1	ORPHA:425
HP:0001677	Coronary artery atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0001677	Coronary artery atherosclerosis	1161	ERCC8	ORPHA:90324
HP:0001677	Coronary artery atherosclerosis	2074	ERCC6	ORPHA:90324
HP:0001677	Coronary artery atherosclerosis	19	ABCA1	OMIM:604091
HP:0001677	Coronary artery atherosclerosis	19	ABCA1	ORPHA:425
HP:0001677	Coronary artery atherosclerosis	84984	CEP19	OMIM:615703
HP:0001677	Coronary artery atherosclerosis	59	ACTA2	OMIM:611788
HP:0001677	Coronary artery atherosclerosis	4000	LMNA	OMIM:176670
HP:0001677	Coronary artery atherosclerosis	338328	GPIHBP1	OMIM:615947
HP:0001677	Coronary artery atherosclerosis	4205	MEF2A	OMIM:608320
HP:0001677	Coronary artery atherosclerosis	348	APOE	ORPHA:412
HP:0001677	Coronary artery atherosclerosis	4040	LRP6	OMIM:610947
HP:0025572	Punctal stenosis	668	FOXL2	ORPHA:572333
HP:0025573	Mild myopia	27245	AHDC1	ORPHA:412069
HP:0025573	Mild myopia	8481	OFD1	OMIM:300424
HP:0025573	Mild myopia	8367	H4C5	OMIM:619950
HP:0025573	Mild myopia	1302	COL11A2	ORPHA:1427
HP:0025573	Mild myopia	23126	POGZ	OMIM:616364
HP:0025573	Mild myopia	2784	GNB3	OMIM:617024
HP:0025574	Macular hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0025574	Macular hemorrhage	3075	CFH	ORPHA:75376
HP:0025574	Macular hemorrhage	3426	CFI	ORPHA:75376
HP:0025574	Macular hemorrhage	348	APOE	OMIM:603075
HP:0025574	Macular hemorrhage	83872	HMCN1	OMIM:603075
HP:0025574	Macular hemorrhage	3078	CFHR1	OMIM:603075
HP:0025574	Macular hemorrhage	10878	CFHR3	OMIM:603075
HP:0025575	Abnormal superior vena cava morphology	128	ADH5	OMIM:619151
HP:0025575	Abnormal superior vena cava morphology	2294	FOXF1	OMIM:265380
HP:0025575	Abnormal superior vena cava morphology	7490	WT1	OMIM:608978
HP:0025575	Abnormal superior vena cava morphology	137814	NKX2-6	ORPHA:3384
HP:0025575	Abnormal superior vena cava morphology	23129	PLXND1	ORPHA:3384
HP:0025575	Abnormal superior vena cava morphology	1387	CREBBP	OMIM:180849
HP:0025575	Abnormal superior vena cava morphology	2033	EP300	OMIM:180849
HP:0025575	Abnormal superior vena cava morphology	54916	TMEM260	OMIM:617478
HP:0025575	Abnormal superior vena cava morphology	25981	DNAH1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	115948	ODAD3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54768	HYDIN	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	27148	STK36	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	51314	NME8	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	92749	DRC1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54970	TTC12	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	152110	NEK10	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	8481	OFD1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	221421	RSPH9	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	85478	CCDC65	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	55036	CCDC40	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	64446	DNAI2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	6674	SPAG1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83544	DNAL1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	89765	RSPH1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83538	ODAD4	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	200373	CFAP221	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	2622	GAS8	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	27019	DNAI1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	6103	RPGR	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	388389	CCDC103	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	93233	ODAD1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	93233	ODAD1	OMIM:615067
HP:0025575	Abnormal superior vena cava morphology	55130	ODAD2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	1767	DNAH5	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83861	RSPH3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	56683	CFAP298	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	79925	SPEF2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	10309	CCNO	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	115399	LRRC56	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	85016	CFAP300	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	339829	CCDC39	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	8701	DNAH11	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	1770	DNAH9	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	10743	RAI1	ORPHA:477817
HP:0025575	Abnormal superior vena cava morphology	10847	SRCAP	OMIM:136140
HP:0025575	Abnormal superior vena cava morphology	10847	SRCAP	ORPHA:2044
HP:0025575	Abnormal superior vena cava morphology	2187	FANCB	OMIM:314390
HP:0025575	Abnormal superior vena cava morphology	7547	ZIC3	OMIM:314390
HP:0025575	Abnormal superior vena cava morphology	55181	SMG8	OMIM:619268
HP:0025575	Abnormal superior vena cava morphology	374879	ZNF699	OMIM:619488
HP:0025575	Abnormal superior vena cava morphology	7386	UQCRFS1	OMIM:618775
HP:0025575	Abnormal superior vena cava morphology	1822	ATN1	OMIM:618494
HP:0025575	Abnormal superior vena cava morphology	4281	MID1	ORPHA:2745
HP:0025575	Abnormal superior vena cava morphology	2783	GNB2	OMIM:619503
HP:0025575	Abnormal superior vena cava morphology	1161	ERCC8	OMIM:216400
HP:0025575	Abnormal superior vena cava morphology	8241	RBM10	ORPHA:2886
HP:0025575	Abnormal superior vena cava morphology	54892	NCAPG2	OMIM:618460
HP:0025575	Abnormal superior vena cava morphology	4087	SMAD2	OMIM:619657
HP:0025575	Abnormal superior vena cava morphology	8772	FADD	OMIM:613759
HP:0025575	Abnormal superior vena cava morphology	55315	SLC29A3	OMIM:602782
HP:0025575	Abnormal superior vena cava morphology	81857	MED25	ORPHA:464738
HP:0025575	Abnormal superior vena cava morphology	100128908	CIROP	OMIM:619702
HP:0025575	Abnormal superior vena cava morphology	5567	PRKACB	OMIM:619143
HP:0025575	Abnormal superior vena cava morphology	5580	PRKCD	OMIM:615559
HP:0025575	Abnormal superior vena cava morphology	8314	BAP1	ORPHA:50251
HP:0025575	Abnormal superior vena cava morphology	93	ACVR2B	OMIM:613751
HP:0025575	Abnormal superior vena cava morphology	10128	LRPPRC	OMIM:220111
HP:0025575	Abnormal superior vena cava morphology	55997	CFC1	OMIM:605376
HP:0025576	Abnormal inferior vena cava morphology	51780	KDM3B	OMIM:618846
HP:0025576	Abnormal inferior vena cava morphology	93	ACVR2B	OMIM:613751
HP:0025576	Abnormal inferior vena cava morphology	64093	SMOC1	OMIM:206920
HP:0025576	Abnormal inferior vena cava morphology	118856	MMP21	OMIM:616749
HP:0025576	Abnormal inferior vena cava morphology	25981	DNAH1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	115948	ODAD3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54768	HYDIN	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	27148	STK36	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	51314	NME8	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	92749	DRC1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54970	TTC12	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	152110	NEK10	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	8481	OFD1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	221421	RSPH9	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	85478	CCDC65	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55036	CCDC40	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	64446	DNAI2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	6674	SPAG1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83544	DNAL1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	89765	RSPH1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83538	ODAD4	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	200373	CFAP221	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	2622	GAS8	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	27019	DNAI1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	6103	RPGR	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	388389	CCDC103	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	93233	ODAD1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55130	ODAD2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	1767	DNAH5	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83861	RSPH3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	56683	CFAP298	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	79925	SPEF2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	10309	CCNO	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	115399	LRRC56	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	85016	CFAP300	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	339829	CCDC39	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	8701	DNAH11	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	1770	DNAH9	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0025579	Abnormal left atrium morphology	5915	RARB	OMIM:615524
HP:0025579	Abnormal left atrium morphology	64220	STRA6	OMIM:601186
HP:0025579	Abnormal left atrium morphology	5337	PLD1	OMIM:212093
HP:0025579	Abnormal left atrium morphology	7137	TNNI3	OMIM:115210
HP:0025579	Abnormal left atrium morphology	7137	TNNI3	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	80206	FHOD3	OMIM:619402
HP:0025579	Abnormal left atrium morphology	4633	MYL2	OMIM:619424
HP:0025579	Abnormal left atrium morphology	442721	LMOD2	OMIM:619897
HP:0025579	Abnormal left atrium morphology	151648	SGO1	OMIM:616201
HP:0025579	Abnormal left atrium morphology	6331	SCN5A	OMIM:614022
HP:0025579	Abnormal left atrium morphology	2318	FLNC	OMIM:617047
HP:0025579	Abnormal left atrium morphology	2318	FLNC	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	54914	FOCAD	OMIM:619991
HP:0025579	Abnormal left atrium morphology	9631	NUP155	OMIM:615770
HP:0025579	Abnormal left atrium morphology	8260	NAA10	OMIM:300855
HP:0025579	Abnormal left atrium morphology	6324	SCN1B	OMIM:615377
HP:0025579	Abnormal left atrium morphology	4878	NPPA	OMIM:612201
HP:0025579	Abnormal left atrium morphology	8815	BANF1	OMIM:614008
HP:0025579	Abnormal left atrium morphology	2997	GYS1	OMIM:611556
HP:0025579	Abnormal left atrium morphology	84665	MYPN	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	7139	TNNT2	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	10112	KIF20A	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	4634	MYL3	OMIM:608751
HP:0025579	Abnormal left atrium morphology	2273	FHL1	OMIM:300280
HP:0025579	Abnormal left atrium morphology	7092	TLL1	ORPHA:99106
HP:0025579	Abnormal left atrium morphology	4625	MYH7	OMIM:160500
HP:0001650	Aortic valve stenosis	60	ACTB	OMIM:243310
HP:0001650	Aortic valve stenosis	11285	B4GALT7	ORPHA:75496
HP:0001650	Aortic valve stenosis	10682	EBP	ORPHA:401973
HP:0001650	Aortic valve stenosis	10682	EBP	OMIM:300960
HP:0001650	Aortic valve stenosis	7450	VWF	OMIM:193400
HP:0001650	Aortic valve stenosis	23118	TAB2	OMIM:614980
HP:0001650	Aortic valve stenosis	23118	TAB2	ORPHA:228410
HP:0001650	Aortic valve stenosis	1859	DYRK1A	ORPHA:268261
HP:0001650	Aortic valve stenosis	1859	DYRK1A	ORPHA:464311
HP:0001650	Aortic valve stenosis	2200	FBN1	OMIM:614185
HP:0001650	Aortic valve stenosis	2200	FBN1	OMIM:608328
HP:0001650	Aortic valve stenosis	2200	FBN1	ORPHA:3449
HP:0001650	Aortic valve stenosis	6873	TAF2	OMIM:615599
HP:0001650	Aortic valve stenosis	7291	TWIST1	OMIM:123100
HP:0001650	Aortic valve stenosis	57514	ARHGAP31	OMIM:100300
HP:0001650	Aortic valve stenosis	4091	SMAD6	OMIM:614823
HP:0001650	Aortic valve stenosis	4091	SMAD6	ORPHA:402075
HP:0001650	Aortic valve stenosis	79753	SNIP1	OMIM:614501
HP:0001650	Aortic valve stenosis	79813	EHMT1	ORPHA:96147
HP:0001650	Aortic valve stenosis	9719	ADAMTSL2	OMIM:231050
HP:0001650	Aortic valve stenosis	9839	ZEB2	ORPHA:261537
HP:0001650	Aortic valve stenosis	9839	ZEB2	ORPHA:261552
HP:0001650	Aortic valve stenosis	4000	LMNA	ORPHA:740
HP:0001650	Aortic valve stenosis	4000	LMNA	ORPHA:363618
HP:0001650	Aortic valve stenosis	4000	LMNA	ORPHA:79474
HP:0001650	Aortic valve stenosis	10269	ZMPSTE24	ORPHA:740
HP:0001650	Aortic valve stenosis	54880	BCOR	OMIM:300166
HP:0001650	Aortic valve stenosis	7490	WT1	ORPHA:3097
HP:0001650	Aortic valve stenosis	23498	HAAO	OMIM:617660
HP:0001650	Aortic valve stenosis	1387	CREBBP	ORPHA:353281
HP:0001650	Aortic valve stenosis	1387	CREBBP	ORPHA:353277
HP:0001650	Aortic valve stenosis	2629	GBA1	OMIM:230800
HP:0001650	Aortic valve stenosis	4089	SMAD4	OMIM:139210
HP:0001650	Aortic valve stenosis	27031	NPHP3	OMIM:208540
HP:0001650	Aortic valve stenosis	27031	NPHP3	OMIM:267010
HP:0001650	Aortic valve stenosis	23586	RIGI	OMIM:616298
HP:0001650	Aortic valve stenosis	7276	TTR	ORPHA:85451
HP:0001650	Aortic valve stenosis	2033	EP300	ORPHA:353284
HP:0001650	Aortic valve stenosis	4851	NOTCH1	ORPHA:402075
HP:0001650	Aortic valve stenosis	4851	NOTCH1	OMIM:109730
HP:0001650	Aortic valve stenosis	1482	NKX2-5	ORPHA:402075
HP:0001650	Aortic valve stenosis	140628	GATA5	ORPHA:402075
HP:0001650	Aortic valve stenosis	140628	GATA5	OMIM:617912
HP:0001650	Aortic valve stenosis	64135	IFIH1	OMIM:182250
HP:0001650	Aortic valve stenosis	9897	WASHC5	OMIM:220210
HP:0001650	Aortic valve stenosis	9897	WASHC5	ORPHA:7
HP:0001650	Aortic valve stenosis	84572	GNPTG	OMIM:252605
HP:0001650	Aortic valve stenosis	153642	ARSK	OMIM:619698
HP:0001650	Aortic valve stenosis	81031	SLC2A10	OMIM:208050
HP:0001650	Aortic valve stenosis	84231	TRAF7	OMIM:618164
HP:0001650	Aortic valve stenosis	9469	CHST3	OMIM:143095
HP:0001650	Aortic valve stenosis	4053	LTBP2	ORPHA:3449
HP:0001650	Aortic valve stenosis	4053	LTBP2	OMIM:614819
HP:0001650	Aortic valve stenosis	81794	ADAMTS10	ORPHA:3449
HP:0001650	Aortic valve stenosis	81794	ADAMTS10	OMIM:277600
HP:0001650	Aortic valve stenosis	6324	SCN1B	OMIM:615377
HP:0001650	Aortic valve stenosis	7026	NR2F2	OMIM:615779
HP:0001650	Aortic valve stenosis	2260	FGFR1	ORPHA:2396
HP:0001650	Aortic valve stenosis	3845	KRAS	ORPHA:2396
HP:0001650	Aortic valve stenosis	284086	NEK8	OMIM:615415
HP:0001650	Aortic valve stenosis	28952	CCDC22	ORPHA:7
HP:0001650	Aortic valve stenosis	2294	FOXF1	ORPHA:210122
HP:0001650	Aortic valve stenosis	203286	ANKS6	OMIM:615382
HP:0001650	Aortic valve stenosis	1193	CLIC2	ORPHA:324410
HP:0001650	Aortic valve stenosis	93233	ODAD1	OMIM:615067
HP:0001650	Aortic valve stenosis	54538	ROBO4	OMIM:618496
HP:0001650	Aortic valve stenosis	2720	GLB1	OMIM:253010
HP:0001650	Aortic valve stenosis	867	CBL	OMIM:613563
HP:0001650	Aortic valve stenosis	6023	RMRP	OMIM:607095
HP:0001650	Aortic valve stenosis	139285	AMER1	ORPHA:2780
HP:0001650	Aortic valve stenosis	4853	NOTCH2	ORPHA:955
HP:0001650	Aortic valve stenosis	3425	IDUA	OMIM:607016
HP:0001650	Aortic valve stenosis	2313	FLI1	ORPHA:2308
HP:0001650	Aortic valve stenosis	1801	DPH1	ORPHA:459061
HP:0004751	Paroxysmal ventricular tachycardia	2771	GNAI2	OMIM:192605
HP:0004751	Paroxysmal ventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10021	HCN4	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	5318	PKP2	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10060	ABCC9	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	775	CACNA1C	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6331	SCN5A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3728	JUP	OMIM:601214
HP:0004751	Paroxysmal ventricular tachycardia	3728	JUP	ORPHA:34217
HP:0004751	Paroxysmal ventricular tachycardia	2992	GYG1	OMIM:613507
HP:0004751	Paroxysmal ventricular tachycardia	442721	LMOD2	OMIM:619897
HP:0004751	Paroxysmal ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0005144	Ventricular septal hypertrophy	57538	ALPK3	OMIM:618052
HP:0005144	Ventricular septal hypertrophy	5605	MAP2K2	OMIM:615280
HP:0005144	Ventricular septal hypertrophy	4633	MYL2	OMIM:608758
HP:0005144	Ventricular septal hypertrophy	221496	LEMD2	OMIM:619322
HP:0005144	Ventricular septal hypertrophy	2992	GYG1	ORPHA:263297
HP:0005144	Ventricular septal hypertrophy	4607	MYBPC3	OMIM:115197
HP:0005144	Ventricular septal hypertrophy	2717	GLA	OMIM:301500
HP:0005144	Ventricular septal hypertrophy	26580	BSCL2	OMIM:269700
HP:0005144	Ventricular septal hypertrophy	84665	MYPN	OMIM:615248
HP:0005144	Ventricular septal hypertrophy	8048	CSRP3	OMIM:612124
HP:0005144	Ventricular septal hypertrophy	7139	TNNT2	OMIM:115195
HP:0005144	Ventricular septal hypertrophy	123263	MTFMT	OMIM:614947
HP:0005144	Ventricular septal hypertrophy	23345	SYNE1	OMIM:612998
HP:0005145	Coronary artery stenosis	55249	YY1AP1	OMIM:602531
HP:0005145	Coronary artery stenosis	9149	DYRK1B	OMIM:615812
HP:0005145	Coronary artery stenosis	57104	PNPLA2	ORPHA:565612
HP:0005145	Coronary artery stenosis	51085	MLXIPL	OMIM:194050
HP:0005145	Coronary artery stenosis	2006	ELN	OMIM:194050
HP:0005145	Coronary artery stenosis	19	ABCA1	ORPHA:31150
HP:0005146	Cardiac valve calcification	23586	RIGI	OMIM:616298
HP:0005146	Cardiac valve calcification	4851	NOTCH1	ORPHA:402075
HP:0005146	Cardiac valve calcification	4851	NOTCH1	OMIM:109730
HP:0005146	Cardiac valve calcification	1482	NKX2-5	ORPHA:402075
HP:0005146	Cardiac valve calcification	140628	GATA5	ORPHA:402075
HP:0005146	Cardiac valve calcification	4091	SMAD6	ORPHA:402075
HP:0005146	Cardiac valve calcification	3081	HGD	ORPHA:56
HP:0005146	Cardiac valve calcification	3081	HGD	OMIM:203500
HP:0005146	Cardiac valve calcification	64135	IFIH1	OMIM:182250
HP:0005146	Cardiac valve calcification	4000	LMNA	ORPHA:363618
HP:0005146	Cardiac valve calcification	4000	LMNA	ORPHA:740
HP:0005146	Cardiac valve calcification	10269	ZMPSTE24	ORPHA:740
HP:0005146	Cardiac valve calcification	2629	GBA1	OMIM:231005
HP:0005146	Cardiac valve calcification	2629	GBA1	ORPHA:77261
HP:0005146	Cardiac valve calcification	2629	GBA1	ORPHA:2072
HP:0005146	Cardiac valve calcification	10568	SLC34A2	ORPHA:60025
HP:0005146	Cardiac valve calcification	10651	MTX2	OMIM:619127
HP:0005146	Cardiac valve calcification	2200	FBN1	OMIM:154700
HP:0005147	Bidirectional ventricular ectopy	3759	KCNJ2	OMIM:170390
HP:0005147	Bidirectional ventricular ectopy	3759	KCNJ2	ORPHA:37553
HP:0005147	Bidirectional ventricular ectopy	3762	KCNJ5	ORPHA:37553
HP:0025580	Abnormal right atrium morphology	6123	RPL3L	OMIM:619371
HP:0025580	Abnormal right atrium morphology	7092	TLL1	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	7092	TLL1	ORPHA:99106
HP:0025580	Abnormal right atrium morphology	57057	TBX20	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	4624	MYH6	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	1482	NKX2-5	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	70	ACTC1	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	10370	CITED2	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2626	GATA4	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2627	GATA6	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2316	FLNA	ORPHA:555877
HP:0025580	Abnormal right atrium morphology	55388	MCM10	OMIM:619313
HP:0025580	Abnormal right atrium morphology	4607	MYBPC3	OMIM:115197
HP:0025580	Abnormal right atrium morphology	4633	MYL2	OMIM:619424
HP:0025580	Abnormal right atrium morphology	368	ABCC6	OMIM:614473
HP:0025580	Abnormal right atrium morphology	2318	FLNC	OMIM:617047
HP:0025580	Abnormal right atrium morphology	2318	FLNC	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	4851	NOTCH1	OMIM:616028
HP:0025580	Abnormal right atrium morphology	8815	BANF1	OMIM:614008
HP:0025580	Abnormal right atrium morphology	8777	MPDZ	OMIM:615219
HP:0025580	Abnormal right atrium morphology	7139	TNNT2	OMIM:612422
HP:0025580	Abnormal right atrium morphology	7139	TNNT2	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	84665	MYPN	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	7137	TNNI3	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	10112	KIF20A	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	10551	AGR2	OMIM:620233
HP:0025584	Hypotropia	401	PHOX2A	OMIM:602078
HP:0025584	Hypotropia	4617	MYF5	OMIM:618155
HP:0025586	Hypertropia	401	PHOX2A	OMIM:602078
HP:0025586	Hypertropia	6297	SALL2	OMIM:216820
HP:0025586	Hypertropia	2200	FBN1	OMIM:154700
HP:0025586	Hypertropia	51506	UFC1	OMIM:618076
HP:0025587	Hyperdeviation	401	PHOX2A	OMIM:602078
HP:0025587	Hyperdeviation	6297	SALL2	OMIM:216820
HP:0025587	Hyperdeviation	2200	FBN1	OMIM:154700
HP:0025587	Hyperdeviation	51506	UFC1	OMIM:618076
HP:0025588	Hypodeviation	401	PHOX2A	OMIM:602078
HP:0025588	Hypodeviation	4617	MYF5	OMIM:618155
HP:0004382	Mitral valve calcification	3081	HGD	ORPHA:56
HP:0004382	Mitral valve calcification	3081	HGD	OMIM:203500
HP:0004382	Mitral valve calcification	64135	IFIH1	OMIM:182250
HP:0004382	Mitral valve calcification	4000	LMNA	ORPHA:363618
HP:0004382	Mitral valve calcification	4000	LMNA	ORPHA:740
HP:0004382	Mitral valve calcification	10269	ZMPSTE24	ORPHA:740
HP:0004382	Mitral valve calcification	2629	GBA1	OMIM:231005
HP:0004382	Mitral valve calcification	2629	GBA1	ORPHA:77261
HP:0004382	Mitral valve calcification	2629	GBA1	ORPHA:2072
HP:0004382	Mitral valve calcification	10568	SLC34A2	ORPHA:60025
HP:0004382	Mitral valve calcification	10651	MTX2	OMIM:619127
HP:0004382	Mitral valve calcification	2200	FBN1	OMIM:154700
HP:0005148	Pulmonary valve defects	374654	KIF7	OMIM:200990
HP:0031006	Acroparesthesia	1836	SLC26A2	ORPHA:93307
HP:0031006	Acroparesthesia	5621	PRNP	ORPHA:356
HP:0031006	Acroparesthesia	4010	LMX1B	ORPHA:2614
HP:0031006	Acroparesthesia	3074	HEXB	ORPHA:309162
HP:0031006	Acroparesthesia	2581	GALC	ORPHA:206443
HP:0031006	Acroparesthesia	2581	GALC	ORPHA:206448
HP:0031006	Acroparesthesia	9517	SPTLC2	OMIM:613640
HP:0031006	Acroparesthesia	5376	PMP22	OMIM:162500
HP:0031006	Acroparesthesia	1311	COMP	OMIM:619161
HP:0031008	Lingual dystonia	2774	GNAL	ORPHA:329466
HP:0031008	Lingual dystonia	2774	GNAL	OMIM:615073
HP:0031008	Lingual dystonia	23230	VPS13A	ORPHA:2388
HP:0031008	Lingual dystonia	55145	THAP1	ORPHA:98806
HP:0031008	Lingual dystonia	55145	THAP1	OMIM:602629
HP:0031008	Lingual dystonia	55768	NGLY1	ORPHA:404454
HP:0031008	Lingual dystonia	23400	ATP13A2	ORPHA:306674
HP:0025590	Abnormal extraocular muscle physiology	2200	FBN1	OMIM:154700
HP:0025596	Abnormal inferior oblique muscle physiology	2200	FBN1	OMIM:154700
HP:0025599	Inferior oblique muscle overaction	2200	FBN1	OMIM:154700
HP:0031013	Ankylosis	2260	FGFR1	OMIM:101600
HP:0031013	Ankylosis	2263	FGFR2	OMIM:101600
HP:0031013	Ankylosis	9791	PTDSS1	ORPHA:2658
HP:0031013	Ankylosis	9241	NOG	ORPHA:3250
HP:0031013	Ankylosis	8200	GDF5	ORPHA:3250
HP:0031013	Ankylosis	7476	WNT7A	OMIM:276820
HP:0031013	Ankylosis	4593	MUSK	OMIM:208150
HP:0031013	Ankylosis	5447	POR	ORPHA:95699
HP:0031013	Ankylosis	4313	MMP2	OMIM:259600
HP:0031013	Ankylosis	4982	TNFRSF11B	OMIM:239000
HP:0031013	Ankylosis	2778	GNAS	OMIM:166350
HP:0031013	Ankylosis	57211	ADGRG6	OMIM:616503
HP:0031013	Ankylosis	51360	MBTPS2	ORPHA:659
HP:0031013	Ankylosis	162514	TRPV3	ORPHA:659
HP:0031013	Ankylosis	64065	PERP	ORPHA:659
HP:0031013	Ankylosis	10269	ZMPSTE24	OMIM:275210
HP:0031013	Ankylosis	2773	GNAI3	OMIM:602483
HP:0031013	Ankylosis	5167	ENPP1	OMIM:208000
HP:0031014	Arteria lusoria	5337	PLD1	OMIM:212093
HP:0031014	Arteria lusoria	137814	NKX2-6	ORPHA:3384
HP:0031014	Arteria lusoria	23129	PLXND1	ORPHA:3384
HP:0031014	Arteria lusoria	1656	DDX6	OMIM:618653
HP:0031014	Arteria lusoria	5293	PIK3CD	ORPHA:221139
HP:0031014	Arteria lusoria	90417	KNSTRN	ORPHA:221139
HP:0031020	Bone marrow hypercellularity	6774	STAT3	ORPHA:520
HP:0031020	Bone marrow hypercellularity	5371	PML	ORPHA:520
HP:0031020	Bone marrow hypercellularity	5914	RARA	ORPHA:520
HP:0031020	Bone marrow hypercellularity	359948	IRF2BP2	ORPHA:520
HP:0031020	Bone marrow hypercellularity	81608	FIP1L1	ORPHA:520
HP:0031020	Bone marrow hypercellularity	4869	NPM1	ORPHA:520
HP:0031020	Bone marrow hypercellularity	5573	PRKAR1A	ORPHA:520
HP:0031020	Bone marrow hypercellularity	54880	BCOR	ORPHA:520
HP:0031020	Bone marrow hypercellularity	64859	NABP1	ORPHA:520
HP:0031020	Bone marrow hypercellularity	6777	STAT5B	ORPHA:520
HP:0031020	Bone marrow hypercellularity	4926	NUMA1	ORPHA:520
HP:0031020	Bone marrow hypercellularity	7704	ZBTB16	ORPHA:520
HP:0031020	Bone marrow hypercellularity	79718	TBL1XR1	ORPHA:520
HP:0031020	Bone marrow hypercellularity	9056	SLC7A7	ORPHA:470
HP:0031020	Bone marrow hypercellularity	355	FAS	ORPHA:3261
HP:0031020	Bone marrow hypercellularity	356	FASLG	ORPHA:3261
HP:0031020	Bone marrow hypercellularity	5580	PRKCD	ORPHA:3261
HP:0031020	Bone marrow hypercellularity	843	CASP10	ORPHA:3261
HP:0031020	Bone marrow hypercellularity	10125	RASGRP1	ORPHA:3261
HP:0031020	Bone marrow hypercellularity	7852	CXCR4	ORPHA:51636
HP:0031020	Bone marrow hypercellularity	7852	CXCR4	OMIM:193670
HP:0031020	Bone marrow hypercellularity	6208	RPS14	ORPHA:86841
HP:0031020	Bone marrow hypercellularity	171023	ASXL1	ORPHA:98849
HP:0031020	Bone marrow hypercellularity	54790	TET2	ORPHA:98849
HP:0031020	Bone marrow hypercellularity	54790	TET2	ORPHA:824
HP:0031020	Bone marrow hypercellularity	3815	KIT	ORPHA:98849
HP:0031020	Bone marrow hypercellularity	6427	SRSF2	ORPHA:98849
HP:0031020	Bone marrow hypercellularity	811	CALR	ORPHA:824
HP:0031020	Bone marrow hypercellularity	4352	MPL	ORPHA:824
HP:0031020	Bone marrow hypercellularity	3717	JAK2	ORPHA:824
HP:0031020	Bone marrow hypercellularity	6714	SRC	OMIM:616937
HP:0031023	Multiple mucosal neuromas	4763	NF1	ORPHA:97685
HP:0031026	Snail-like ilia	23169	SLC35D1	OMIM:269250
HP:0031028	Lactescent serum	4023	LPL	OMIM:238600
HP:0031029	Elevated carcinoembryonic antigen level	1439	CSF2RB	ORPHA:264675
HP:0031029	Elevated carcinoembryonic antigen level	1438	CSF2RA	ORPHA:264675
HP:0031030	Elevated carcinoma antigen 125 level	2313	FLI1	ORPHA:370348
HP:0031031	Abnormal retinol-binding protein level	5950	RBP4	OMIM:615147
HP:0031032	Decreased retinol-binding protein level	5950	RBP4	OMIM:615147
HP:0031033	Impaired urinary acidification	6521	SLC4A1	OMIM:179800
HP:0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	60676	PAPPA2	OMIM:619489
HP:0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	3483	IGFALS	OMIM:615961
HP:0031035	Chronic infection	6774	STAT3	ORPHA:520
HP:0031035	Chronic infection	5371	PML	ORPHA:520
HP:0031035	Chronic infection	5914	RARA	ORPHA:520
HP:0031035	Chronic infection	359948	IRF2BP2	ORPHA:520
HP:0031035	Chronic infection	81608	FIP1L1	ORPHA:520
HP:0031035	Chronic infection	4869	NPM1	ORPHA:520
HP:0031035	Chronic infection	5573	PRKAR1A	ORPHA:520
HP:0031035	Chronic infection	54880	BCOR	ORPHA:520
HP:0031035	Chronic infection	64859	NABP1	ORPHA:520
HP:0031035	Chronic infection	6777	STAT5B	ORPHA:520
HP:0031035	Chronic infection	4926	NUMA1	ORPHA:520
HP:0031035	Chronic infection	7704	ZBTB16	ORPHA:520
HP:0031035	Chronic infection	79718	TBL1XR1	ORPHA:520
HP:0031035	Chronic infection	10312	TCIRG1	ORPHA:210110
HP:0031035	Chronic infection	1186	CLCN7	ORPHA:210110
HP:0031035	Chronic infection	9842	PLEKHM1	ORPHA:210110
HP:0031035	Chronic infection	590	BCHE	ORPHA:132
HP:0031035	Chronic infection	3043	HBB	ORPHA:231226
HP:0031035	Chronic infection	3043	HBB	ORPHA:231214
HP:0031035	Chronic infection	6208	RPS14	ORPHA:86841
HP:0031035	Chronic infection	54790	TET2	ORPHA:75564
HP:0031035	Chronic infection	23451	SF3B1	ORPHA:75564
HP:0031035	Chronic infection	84061	MAGT1	OMIM:300853
HP:0031035	Chronic infection	64170	CARD9	OMIM:212050
HP:0031038	Spermatogenesis maturation arrest	154197	PNLDC1	OMIM:619528
HP:0031038	Spermatogenesis maturation arrest	4439	MSH5	OMIM:619937
HP:0031038	Spermatogenesis maturation arrest	93426	SYCE1	OMIM:616950
HP:0031038	Spermatogenesis maturation arrest	145645	TERB2	OMIM:619645
HP:0031038	Spermatogenesis maturation arrest	283847	TERB1	OMIM:619646
HP:0031038	Spermatogenesis maturation arrest	130951	M1AP	OMIM:619108
HP:0031038	Spermatogenesis maturation arrest	54456	MOV10L1	OMIM:619878
HP:0031038	Spermatogenesis maturation arrest	56159	TEX11	OMIM:309120
HP:0031038	Spermatogenesis maturation arrest	122402	TDRD9	OMIM:618110
HP:0031038	Spermatogenesis maturation arrest	7516	XRCC2	OMIM:619145
HP:0031038	Spermatogenesis maturation arrest	158401	SHOC1	OMIM:619949
HP:0031038	Spermatogenesis maturation arrest	56154	TEX15	OMIM:617960
HP:0031038	Spermatogenesis maturation arrest	10734	STAG3	OMIM:619672
HP:0031038	Spermatogenesis maturation arrest	285498	RNF212	OMIM:619673
HP:0031038	Spermatogenesis maturation arrest	84225	ZMYND15	OMIM:615842
HP:0031039	Early spermatogenesis maturation arrest	158401	SHOC1	OMIM:619949
HP:0031039	Early spermatogenesis maturation arrest	56154	TEX15	OMIM:617960
HP:0031039	Early spermatogenesis maturation arrest	10734	STAG3	OMIM:619672
HP:0031039	Early spermatogenesis maturation arrest	285498	RNF212	OMIM:619673
HP:0100134	Abnormality of the axillary hair	147495	APCDD1	OMIM:605389
HP:0100134	Abnormality of the axillary hair	8313	AXIN2	OMIM:608615
HP:0100134	Abnormality of the axillary hair	200879	LIPH	OMIM:604379
HP:0100134	Abnormality of the axillary hair	9508	ADAMTS3	ORPHA:2136
HP:0100134	Abnormality of the axillary hair	147372	CCBE1	ORPHA:2136
HP:0100134	Abnormality of the axillary hair	79633	FAT4	ORPHA:2136
HP:0100134	Abnormality of the axillary hair	3122	HLA-DRA	ORPHA:505
HP:0100134	Abnormality of the axillary hair	8626	TP63	OMIM:604292
HP:0100134	Abnormality of the axillary hair	8626	TP63	OMIM:103285
HP:0100134	Abnormality of the axillary hair	284252	KCTD1	OMIM:181270
HP:0100134	Abnormality of the axillary hair	2488	FSHB	ORPHA:52901
HP:0100134	Abnormality of the axillary hair	3972	LHB	OMIM:228300
HP:0100134	Abnormality of the axillary hair	1528	CYB5A	ORPHA:90796
HP:0100134	Abnormality of the axillary hair	6144	RPL21	OMIM:615885
HP:0100134	Abnormality of the axillary hair	9723	SEMA3E	OMIM:146110
HP:0100134	Abnormality of the axillary hair	558	AXL	OMIM:146110
HP:0100134	Abnormality of the axillary hair	2798	GNRHR	OMIM:146110
HP:0100134	Abnormality of the axillary hair	2796	GNRH1	OMIM:146110
HP:0100134	Abnormality of the axillary hair	10011	SRA1	OMIM:146110
HP:0100134	Abnormality of the axillary hair	55717	WDR11	OMIM:146110
HP:0100134	Abnormality of the axillary hair	8822	FGF17	OMIM:146110
HP:0100134	Abnormality of the axillary hair	1848	DUSP6	OMIM:146110
HP:0100134	Abnormality of the axillary hair	81848	SPRY4	OMIM:146110
HP:0100134	Abnormality of the axillary hair	285025	CCDC141	OMIM:146110
HP:0100134	Abnormality of the axillary hair	389549	FEZF1	OMIM:146110
HP:0100134	Abnormality of the axillary hair	1825	DSC3	OMIM:613102
HP:0100134	Abnormality of the axillary hair	4214	MAP3K1	OMIM:613762
HP:0100134	Abnormality of the axillary hair	4214	MAP3K1	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	10161	LPAR6	OMIM:278150
HP:0100134	Abnormality of the axillary hair	6662	SOX9	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	6845	VAMP7	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	51741	WWOX	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	2516	NR5A1	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	7490	WT1	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	58524	DMRT3	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	57647	DHX37	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	6736	SRY	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	23414	ZFPM2	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	190	NR0B1	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	2626	GATA4	ORPHA:251510
HP:0100134	Abnormality of the axillary hair	5696	PSMB8	OMIM:256040
HP:0100134	Abnormality of the axillary hair	23594	ORC6	OMIM:613803
HP:0100134	Abnormality of the axillary hair	1308	COL17A1	ORPHA:251393
HP:0100134	Abnormality of the axillary hair	10804	GJB6	ORPHA:189
HP:0100134	Abnormality of the axillary hair	10804	GJB6	OMIM:129500
HP:0100134	Abnormality of the axillary hair	26137	ZBTB20	OMIM:259050
HP:0100134	Abnormality of the axillary hair	4047	LSS	OMIM:618275
HP:0100134	Abnormality of the axillary hair	348	APOE	OMIM:269600
HP:0100134	Abnormality of the axillary hair	3691	ITGB4	OMIM:619816
HP:0100134	Abnormality of the axillary hair	55012	PPP2R3C	OMIM:618419
HP:0100134	Abnormality of the axillary hair	6635	SNRPE	OMIM:615059
HP:0100134	Abnormality of the axillary hair	79574	EPS8L3	OMIM:612841
HP:0100134	Abnormality of the axillary hair	2706	GJB2	OMIM:148210
HP:0100134	Abnormality of the axillary hair	55806	HR	OMIM:203655
HP:0100134	Abnormality of the axillary hair	367	AR	ORPHA:99429
HP:0100134	Abnormality of the axillary hair	1586	CYP17A1	ORPHA:90793
HP:0100134	Abnormality of the axillary hair	6926	TBX3	ORPHA:3138
HP:0100134	Abnormality of the axillary hair	1041	CDSN	ORPHA:90368
HP:0100134	Abnormality of the axillary hair	121391	KRT74	ORPHA:90368
HP:0100133	Abnormality of the pubic hair	668	FOXL2	OMIM:110100
HP:0100133	Abnormality of the pubic hair	147495	APCDD1	OMIM:605389
HP:0100133	Abnormality of the pubic hair	4193	MDM2	OMIM:618681
HP:0100133	Abnormality of the pubic hair	3122	HLA-DRA	ORPHA:505
HP:0100133	Abnormality of the pubic hair	8626	TP63	OMIM:604292
HP:0100133	Abnormality of the pubic hair	10804	GJB6	ORPHA:189
HP:0100133	Abnormality of the pubic hair	29893	PSMC3IP	ORPHA:243
HP:0100133	Abnormality of the pubic hair	171568	POLR3H	ORPHA:243
HP:0100133	Abnormality of the pubic hair	2516	NR5A1	ORPHA:243
HP:0100133	Abnormality of the pubic hair	2516	NR5A1	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	125150	ZSWIM7	ORPHA:243
HP:0100133	Abnormality of the pubic hair	9210	BMP15	ORPHA:243
HP:0100133	Abnormality of the pubic hair	57122	NUP107	ORPHA:243
HP:0100133	Abnormality of the pubic hair	23514	SPIDR	ORPHA:243
HP:0100133	Abnormality of the pubic hair	2492	FSHR	ORPHA:243
HP:0100133	Abnormality of the pubic hair	56945	MRPS22	ORPHA:243
HP:0100133	Abnormality of the pubic hair	646	BNC1	ORPHA:243
HP:0100133	Abnormality of the pubic hair	284252	KCTD1	OMIM:181270
HP:0100133	Abnormality of the pubic hair	3730	ANOS1	OMIM:308700
HP:0100133	Abnormality of the pubic hair	367	AR	OMIM:300068
HP:0100133	Abnormality of the pubic hair	367	AR	ORPHA:99429
HP:0100133	Abnormality of the pubic hair	2488	FSHB	ORPHA:52901
HP:0100133	Abnormality of the pubic hair	3972	LHB	OMIM:228300
HP:0100133	Abnormality of the pubic hair	4047	LSS	OMIM:618275
HP:0100133	Abnormality of the pubic hair	1528	CYB5A	ORPHA:90796
HP:0100133	Abnormality of the pubic hair	1586	CYP17A1	ORPHA:90796
HP:0100133	Abnormality of the pubic hair	6144	RPL21	OMIM:615885
HP:0100133	Abnormality of the pubic hair	9723	SEMA3E	OMIM:146110
HP:0100133	Abnormality of the pubic hair	558	AXL	OMIM:146110
HP:0100133	Abnormality of the pubic hair	2798	GNRHR	OMIM:146110
HP:0100133	Abnormality of the pubic hair	2796	GNRH1	OMIM:146110
HP:0100133	Abnormality of the pubic hair	10011	SRA1	OMIM:146110
HP:0100133	Abnormality of the pubic hair	55717	WDR11	OMIM:146110
HP:0100133	Abnormality of the pubic hair	8822	FGF17	OMIM:146110
HP:0100133	Abnormality of the pubic hair	1848	DUSP6	OMIM:146110
HP:0100133	Abnormality of the pubic hair	81848	SPRY4	OMIM:146110
HP:0100133	Abnormality of the pubic hair	285025	CCDC141	OMIM:146110
HP:0100133	Abnormality of the pubic hair	389549	FEZF1	OMIM:146110
HP:0100133	Abnormality of the pubic hair	55012	PPP2R3C	OMIM:618419
HP:0100133	Abnormality of the pubic hair	6662	SOX9	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	6845	VAMP7	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	51741	WWOX	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	4214	MAP3K1	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	7490	WT1	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	58524	DMRT3	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	57647	DHX37	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	6736	SRY	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	23414	ZFPM2	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	190	NR0B1	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	2626	GATA4	ORPHA:251510
HP:0100133	Abnormality of the pubic hair	23594	ORC6	OMIM:613803
HP:0100133	Abnormality of the pubic hair	1308	COL17A1	ORPHA:251393
HP:0100133	Abnormality of the pubic hair	3691	ITGB4	ORPHA:251393
HP:0100133	Abnormality of the pubic hair	79574	EPS8L3	OMIM:612841
HP:0100133	Abnormality of the pubic hair	2706	GJB2	OMIM:148210
HP:0100133	Abnormality of the pubic hair	55806	HR	OMIM:203655
HP:0100133	Abnormality of the pubic hair	1041	CDSN	ORPHA:90368
HP:0100133	Abnormality of the pubic hair	121391	KRT74	ORPHA:90368
HP:0100133	Abnormality of the pubic hair	2099	ESR1	ORPHA:785
HP:0005177	Premature arteriosclerosis	3949	LDLR	ORPHA:391665
HP:0005177	Premature arteriosclerosis	255738	PCSK9	ORPHA:391665
HP:0005177	Premature arteriosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0005177	Premature arteriosclerosis	338	APOB	ORPHA:391665
HP:0005177	Premature arteriosclerosis	64240	ABCG5	ORPHA:391665
HP:0005177	Premature arteriosclerosis	64241	ABCG8	ORPHA:391665
HP:0005177	Premature arteriosclerosis	7486	WRN	OMIM:277700
HP:0005177	Premature arteriosclerosis	4000	LMNA	ORPHA:79474
HP:0005176	Dysplastic aortic valve	64132	XYLT2	OMIM:605822
HP:0005176	Dysplastic aortic valve	22827	PUF60	ORPHA:508488
HP:0005176	Dysplastic aortic valve	4784	NFIX	OMIM:602535
HP:0005176	Dysplastic aortic valve	171019	ADAMTS19	OMIM:620067
HP:0005160	Total anomalous pulmonary venous return	7547	ZIC3	OMIM:306955
HP:0005160	Total anomalous pulmonary venous return	1718	DHCR24	OMIM:602398
HP:0005160	Total anomalous pulmonary venous return	6210	RPS15A	OMIM:618313
HP:0005160	Total anomalous pulmonary venous return	2657	GDF1	OMIM:208530
HP:0005160	Total anomalous pulmonary venous return	2657	GDF1	OMIM:613854
HP:0005160	Total anomalous pulmonary venous return	123606	NIPA1	ORPHA:261183
HP:0005160	Total anomalous pulmonary venous return	7283	TUBG1	ORPHA:261183
HP:0005160	Total anomalous pulmonary venous return	81614	NIPA2	ORPHA:261183
HP:0005160	Total anomalous pulmonary venous return	998	CDC42	ORPHA:487796
HP:0005160	Total anomalous pulmonary venous return	93	ACVR2B	OMIM:613751
HP:0005160	Total anomalous pulmonary venous return	220136	CFAP53	OMIM:614779
HP:0005160	Total anomalous pulmonary venous return	2719	GPC3	OMIM:312870
HP:0005160	Total anomalous pulmonary venous return	2239	GPC4	OMIM:312870
HP:0005160	Total anomalous pulmonary venous return	118856	MMP21	OMIM:616749
HP:0005160	Total anomalous pulmonary venous return	4838	NODAL	OMIM:270100
HP:0005160	Total anomalous pulmonary venous return	7490	WT1	OMIM:608978
HP:0004380	Aortic valve calcification	3081	HGD	ORPHA:56
HP:0004380	Aortic valve calcification	3081	HGD	OMIM:203500
HP:0004380	Aortic valve calcification	64135	IFIH1	OMIM:182250
HP:0004380	Aortic valve calcification	4000	LMNA	ORPHA:740
HP:0004380	Aortic valve calcification	4000	LMNA	ORPHA:79474
HP:0004380	Aortic valve calcification	10269	ZMPSTE24	ORPHA:740
HP:0004380	Aortic valve calcification	2629	GBA1	ORPHA:77261
HP:0004380	Aortic valve calcification	2629	GBA1	ORPHA:2072
HP:0004380	Aortic valve calcification	2629	GBA1	OMIM:231005
HP:0004380	Aortic valve calcification	23586	RIGI	OMIM:616298
HP:0004380	Aortic valve calcification	4851	NOTCH1	ORPHA:402075
HP:0004380	Aortic valve calcification	4851	NOTCH1	OMIM:109730
HP:0004380	Aortic valve calcification	1482	NKX2-5	ORPHA:402075
HP:0004380	Aortic valve calcification	140628	GATA5	ORPHA:402075
HP:0004380	Aortic valve calcification	4091	SMAD6	ORPHA:402075
HP:0031040	Late spermatogenesis maturation arrest	84225	ZMYND15	OMIM:615842
HP:0031041	Obstruction of the superior vena cava	5580	PRKCD	OMIM:615559
HP:0031041	Obstruction of the superior vena cava	8314	BAP1	ORPHA:50251
HP:0031045	Acral blistering	3852	KRT5	ORPHA:158681
HP:0031045	Acral blistering	23219	FBXO28	OMIM:619777
HP:0031045	Acral blistering	55612	FERMT1	OMIM:173650
HP:0031045	Acral blistering	3861	KRT14	ORPHA:69087
HP:0031045	Acral blistering	1294	COL7A1	ORPHA:231568
HP:0031045	Acral blistering	1294	COL7A1	ORPHA:158673
HP:0031045	Acral blistering	56916	SMARCAD1	OMIM:129200
HP:0031045	Acral blistering	1308	COL17A1	ORPHA:251393
HP:0031045	Acral blistering	3691	ITGB4	ORPHA:251393
HP:0031045	Acral blistering	5339	PLEC	ORPHA:79401
HP:0031047	Paraproteinemia	4615	MYD88	ORPHA:33226
HP:0031047	Paraproteinemia	4615	MYD88	OMIM:153600
HP:0031047	Paraproteinemia	595	CCND1	OMIM:254500
HP:0031047	Paraproteinemia	3981	LIG4	OMIM:254500
HP:0005199	Aplasia of the abdominal wall musculature	1131	CHRM3	ORPHA:2970
HP:0005199	Aplasia of the abdominal wall musculature	1131	CHRM3	OMIM:100100
HP:0005198	Stiff interphalangeal joints	654	BMP6	ORPHA:465508
HP:0005198	Stiff interphalangeal joints	3077	HFE	ORPHA:465508
HP:0005198	Stiff interphalangeal joints	9401	RECQL4	OMIM:266280
HP:0005197	Generalized morning stiffness	10216	PRG4	OMIM:208250
HP:0005261	Joint hemorrhage	2165	F13B	ORPHA:331
HP:0005261	Joint hemorrhage	2162	F13A1	ORPHA:331
HP:0005261	Joint hemorrhage	2162	F13A1	OMIM:613225
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:177926
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:169805
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:169802
HP:0005261	Joint hemorrhage	2157	F8	OMIM:306700
HP:0005261	Joint hemorrhage	2159	F10	OMIM:227600
HP:0005261	Joint hemorrhage	2159	F10	ORPHA:328
HP:0005261	Joint hemorrhage	5345	SERPINF2	OMIM:262850
HP:0005261	Joint hemorrhage	5345	SERPINF2	ORPHA:79
HP:0005261	Joint hemorrhage	7450	VWF	OMIM:193400
HP:0005261	Joint hemorrhage	7450	VWF	OMIM:277480
HP:0005261	Joint hemorrhage	2155	F7	OMIM:227500
HP:0005261	Joint hemorrhage	2155	F7	ORPHA:327
HP:0005261	Joint hemorrhage	2677	GGCX	OMIM:277450
HP:0005261	Joint hemorrhage	2147	F2	OMIM:613679
HP:0005261	Joint hemorrhage	2147	F2	ORPHA:325
HP:0005261	Joint hemorrhage	2160	F11	ORPHA:329
HP:0005261	Joint hemorrhage	2153	F5	ORPHA:326
HP:0005261	Joint hemorrhage	2158	F9	OMIM:306900
HP:0005261	Joint hemorrhage	5054	SERPINE1	ORPHA:465
HP:0005261	Joint hemorrhage	3998	LMAN1	ORPHA:35909
HP:0005261	Joint hemorrhage	90411	MCFD2	ORPHA:35909
HP:0005261	Joint hemorrhage	5328	PLAU	OMIM:601709
HP:0005261	Joint hemorrhage	7454	WAS	OMIM:313900
HP:0005195	Polyarticular arthropathy	8838	CCN6	ORPHA:1159
HP:0005195	Polyarticular arthropathy	10216	PRG4	ORPHA:2848
HP:0005195	Polyarticular arthropathy	5293	PIK3CD	OMIM:619281
HP:0005195	Polyarticular arthropathy	4210	MEFV	OMIM:134610
HP:0005195	Polyarticular arthropathy	1758	DMP1	ORPHA:289176
HP:0005195	Polyarticular arthropathy	5167	ENPP1	ORPHA:289176
HP:0005195	Polyarticular arthropathy	22861	NLRP1	OMIM:617388
HP:0005195	Polyarticular arthropathy	114548	NLRP3	OMIM:191900
HP:0005195	Polyarticular arthropathy	7128	TNFAIP3	OMIM:616744
HP:0005195	Polyarticular arthropathy	6774	STAT3	OMIM:615952
HP:0005195	Polyarticular arthropathy	7132	TNFRSF1A	OMIM:142680
HP:0005195	Polyarticular arthropathy	26525	IL36RN	OMIM:614204
HP:0005195	Polyarticular arthropathy	6583	SLC22A4	OMIM:180300
HP:0005195	Polyarticular arthropathy	26191	PTPN22	OMIM:180300
HP:0005195	Polyarticular arthropathy	4261	CIITA	OMIM:180300
HP:0005195	Polyarticular arthropathy	51744	CD244	OMIM:180300
HP:0005195	Polyarticular arthropathy	4795	NFKBIL1	OMIM:180300
HP:0005195	Polyarticular arthropathy	3586	IL10	OMIM:180300
HP:0005195	Polyarticular arthropathy	64127	NOD2	ORPHA:90340
HP:0005194	Flattened metatarsal heads	3549	IHH	OMIM:112500
HP:0005194	Flattened metatarsal heads	10216	PRG4	OMIM:208250
HP:0005193	Restricted large joint movement	1280	COL2A1	ORPHA:93346
HP:0005191	Congenital knee dislocation	1277	COL1A1	OMIM:130060
HP:0005191	Congenital knee dislocation	23345	SYNE1	ORPHA:319332
HP:0005190	Proximal finger joint hyperextensibility	4010	LMX1B	ORPHA:2614
HP:0005172	Left posterior fascicular block	6331	SCN5A	OMIM:113900
HP:0031051	Tarsal sclerosis	10682	EBP	OMIM:302960
HP:0031051	Tarsal sclerosis	23592	LEMD3	ORPHA:166119
HP:0031051	Tarsal sclerosis	55768	NGLY1	ORPHA:404454
HP:0031055	Abnormal branching pattern of left aortic arch	5337	PLD1	OMIM:212093
HP:0031055	Abnormal branching pattern of left aortic arch	10526	IPO8	OMIM:619472
HP:0031056	Fusiform cerebral aneurysm	55901	THSD1	OMIM:618734
HP:0031057	Skin fissure	2697	GJA1	ORPHA:1010
HP:0031057	Skin fissure	51360	MBTPS2	ORPHA:659
HP:0031057	Skin fissure	162514	TRPV3	ORPHA:659
HP:0031057	Skin fissure	64065	PERP	ORPHA:659
HP:0031058	Impairment of activities of daily living	55906	ZC4H2	OMIM:301041
HP:0031058	Impairment of activities of daily living	6513	SLC2A1	ORPHA:64280
HP:0031058	Impairment of activities of daily living	2562	GABRB3	ORPHA:64280
HP:0031058	Impairment of activities of daily living	2554	GABRA1	ORPHA:64280
HP:0031058	Impairment of activities of daily living	8912	CACNA1H	ORPHA:64280
HP:0031058	Impairment of activities of daily living	8629	JRK	ORPHA:64280
HP:0031058	Impairment of activities of daily living	2566	GABRG2	ORPHA:64280
HP:0031058	Impairment of activities of daily living	23394	ADNP	ORPHA:404448
HP:0031058	Impairment of activities of daily living	9897	WASHC5	ORPHA:100989
HP:0031058	Impairment of activities of daily living	9897	WASHC5	OMIM:603563
HP:0031058	Impairment of activities of daily living	10466	COG5	ORPHA:263487
HP:0031058	Impairment of activities of daily living	340533	NEXMIF	OMIM:300912
HP:0031058	Impairment of activities of daily living	23345	SYNE1	ORPHA:88644
HP:0031058	Impairment of activities of daily living	123606	NIPA1	ORPHA:100988
HP:0031058	Impairment of activities of daily living	123606	NIPA1	OMIM:600363
HP:0031058	Impairment of activities of daily living	23446	SLC44A1	OMIM:618868
HP:0031058	Impairment of activities of daily living	59341	TRPV4	OMIM:606071
HP:0031058	Impairment of activities of daily living	22880	MORC2	OMIM:616688
HP:0031058	Impairment of activities of daily living	22880	MORC2	ORPHA:466768
HP:0031058	Impairment of activities of daily living	57704	GBA2	ORPHA:352641
HP:0031058	Impairment of activities of daily living	57704	GBA2	ORPHA:320391
HP:0031058	Impairment of activities of daily living	57704	GBA2	OMIM:614409
HP:0031058	Impairment of activities of daily living	1786	DNMT1	ORPHA:314404
HP:0031058	Impairment of activities of daily living	4803	NGF	OMIM:608654
HP:0031058	Impairment of activities of daily living	57216	VANGL2	OMIM:182940
HP:0031058	Impairment of activities of daily living	6347	CCL2	OMIM:182940
HP:0031058	Impairment of activities of daily living	81839	VANGL1	OMIM:182940
HP:0031058	Impairment of activities of daily living	6862	TBXT	OMIM:182940
HP:0031058	Impairment of activities of daily living	80199	FUZ	OMIM:182940
HP:0031058	Impairment of activities of daily living	27235	COQ2	OMIM:146500
HP:0031058	Impairment of activities of daily living	274	BIN1	ORPHA:169189
HP:0031058	Impairment of activities of daily living	64419	MTMR14	ORPHA:169189
HP:0031058	Impairment of activities of daily living	4618	MYF6	ORPHA:169189
HP:0031058	Impairment of activities of daily living	1785	DNM2	ORPHA:169189
HP:0031058	Impairment of activities of daily living	6261	RYR1	ORPHA:169189
HP:0031058	Impairment of activities of daily living	5660	PSAP	OMIM:249900
HP:0031058	Impairment of activities of daily living	5660	PSAP	ORPHA:309271
HP:0031058	Impairment of activities of daily living	5660	PSAP	ORPHA:309263
HP:0031058	Impairment of activities of daily living	5660	PSAP	ORPHA:309256
HP:0031058	Impairment of activities of daily living	3074	HEXB	ORPHA:309162
HP:0031058	Impairment of activities of daily living	3074	HEXB	OMIM:268800
HP:0031058	Impairment of activities of daily living	10479	SLC9A6	OMIM:300243
HP:0031058	Impairment of activities of daily living	81790	RNF170	OMIM:619686
HP:0031058	Impairment of activities of daily living	25814	ATXN10	OMIM:603516
HP:0031058	Impairment of activities of daily living	6311	ATXN2	OMIM:183090
HP:0031058	Impairment of activities of daily living	6335	SCN9A	OMIM:243000
HP:0031058	Impairment of activities of daily living	8878	SQSTM1	OMIM:617145
HP:0031058	Impairment of activities of daily living	5610	EIF2AK2	OMIM:618877
HP:0031058	Impairment of activities of daily living	128486	FITM2	OMIM:618635
HP:0031058	Impairment of activities of daily living	2581	GALC	ORPHA:206448
HP:0031058	Impairment of activities of daily living	3508	IGHMBP2	OMIM:604320
HP:0031058	Impairment of activities of daily living	100996717	NOTCH2NLC	OMIM:603472
HP:0031058	Impairment of activities of daily living	6904	TBCD	ORPHA:496641
HP:0031058	Impairment of activities of daily living	6904	TBCD	OMIM:617193
HP:0031058	Impairment of activities of daily living	90161	HS6ST2	OMIM:301025
HP:0031058	Impairment of activities of daily living	410	ARSA	ORPHA:309271
HP:0031058	Impairment of activities of daily living	410	ARSA	ORPHA:309263
HP:0031058	Impairment of activities of daily living	410	ARSA	ORPHA:309256
HP:0031058	Impairment of activities of daily living	410	ARSA	OMIM:250100
HP:0031058	Impairment of activities of daily living	2590	GALNT2	OMIM:618885
HP:0031058	Impairment of activities of daily living	51319	RSRC1	OMIM:618402
HP:0031058	Impairment of activities of daily living	54463	RETREG1	OMIM:613115
HP:0031058	Impairment of activities of daily living	6575	SLC20A2	OMIM:213600
HP:0031058	Impairment of activities of daily living	5155	PDGFB	OMIM:213600
HP:0031058	Impairment of activities of daily living	5155	PDGFB	ORPHA:2495
HP:0031058	Impairment of activities of daily living	5159	PDGFRB	OMIM:213600
HP:0031058	Impairment of activities of daily living	549	AUH	OMIM:250950
HP:0031058	Impairment of activities of daily living	80208	SPG11	OMIM:602099
HP:0031058	Impairment of activities of daily living	80208	SPG11	ORPHA:300605
HP:0031058	Impairment of activities of daily living	80208	SPG11	OMIM:604360
HP:0031058	Impairment of activities of daily living	7276	TTR	OMIM:105210
HP:0031058	Impairment of activities of daily living	823	CAPN1	OMIM:616907
HP:0031058	Impairment of activities of daily living	10273	STUB1	OMIM:618093
HP:0031058	Impairment of activities of daily living	2632	GBE1	ORPHA:206583
HP:0031058	Impairment of activities of daily living	2632	GBE1	OMIM:263570
HP:0031058	Impairment of activities of daily living	1137	CHRNA4	ORPHA:98784
HP:0031058	Impairment of activities of daily living	1135	CHRNA2	ORPHA:98784
HP:0031058	Impairment of activities of daily living	57010	CABP4	ORPHA:98784
HP:0031058	Impairment of activities of daily living	1141	CHRNB2	ORPHA:98784
HP:0031058	Impairment of activities of daily living	57582	KCNT1	ORPHA:98784
HP:0031058	Impairment of activities of daily living	1392	CRH	ORPHA:98784
HP:0031058	Impairment of activities of daily living	9681	DEPDC5	ORPHA:98784
HP:0031058	Impairment of activities of daily living	57531	HACE1	ORPHA:464282
HP:0031058	Impairment of activities of daily living	9420	CYP7B1	OMIM:270800
HP:0031058	Impairment of activities of daily living	6687	SPG7	OMIM:607259
HP:0031058	Impairment of activities of daily living	26278	SACS	ORPHA:98
HP:0031058	Impairment of activities of daily living	9839	ZEB2	ORPHA:261552
HP:0031058	Impairment of activities of daily living	9839	ZEB2	ORPHA:261537
HP:0031058	Impairment of activities of daily living	2332	FMR1	OMIM:300623
HP:0031058	Impairment of activities of daily living	23400	ATP13A2	ORPHA:306674
HP:0031058	Impairment of activities of daily living	9860	LRIG2	ORPHA:2704
HP:0031058	Impairment of activities of daily living	60495	HPSE2	ORPHA:2704
HP:0031058	Impairment of activities of daily living	9907	AP5Z1	OMIM:613647
HP:0031058	Impairment of activities of daily living	9907	AP5Z1	ORPHA:306511
HP:0031058	Impairment of activities of daily living	79152	FA2H	OMIM:612319
HP:0031058	Impairment of activities of daily living	79152	FA2H	ORPHA:171629
HP:0031058	Impairment of activities of daily living	4747	NEFL	ORPHA:101085
HP:0031058	Impairment of activities of daily living	6908	TBP	OMIM:607136
HP:0031058	Impairment of activities of daily living	4854	NOTCH3	OMIM:125310
HP:0031058	Impairment of activities of daily living	28982	FLVCR1	OMIM:609033
HP:0031058	Impairment of activities of daily living	3752	KCND3	ORPHA:98772
HP:0031058	Impairment of activities of daily living	7840	ALMS1	ORPHA:64
HP:0031058	Impairment of activities of daily living	2261	FGFR3	OMIM:616482
HP:0031058	Impairment of activities of daily living	56978	PRDM8	OMIM:616640
HP:0031058	Impairment of activities of daily living	23259	DDHD2	OMIM:615033
HP:0031058	Impairment of activities of daily living	2548	GAA	OMIM:232300
HP:0031058	Impairment of activities of daily living	92609	TIMM50	OMIM:617698
HP:0031058	Impairment of activities of daily living	92609	TIMM50	ORPHA:505216
HP:0031058	Impairment of activities of daily living	8314	BAP1	ORPHA:2495
HP:0031058	Impairment of activities of daily living	4771	NF2	ORPHA:2495
HP:0031058	Impairment of activities of daily living	6598	SMARCB1	ORPHA:2495
HP:0031058	Impairment of activities of daily living	84231	TRAF7	ORPHA:2495
HP:0031058	Impairment of activities of daily living	6608	SMO	ORPHA:2495
HP:0031058	Impairment of activities of daily living	207	AKT1	ORPHA:2495
HP:0031058	Impairment of activities of daily living	5290	PIK3CA	ORPHA:2495
HP:0031058	Impairment of activities of daily living	7015	TERT	ORPHA:2495
HP:0031058	Impairment of activities of daily living	51684	SUFU	ORPHA:2495
HP:0031058	Impairment of activities of daily living	6605	SMARCE1	ORPHA:2495
HP:0031058	Impairment of activities of daily living	54796	BNC2	ORPHA:93110
HP:0031058	Impairment of activities of daily living	54796	BNC2	OMIM:618612
HP:0031058	Impairment of activities of daily living	3748	KCNC3	ORPHA:98768
HP:0031058	Impairment of activities of daily living	80025	PANK2	OMIM:234200
HP:0031058	Impairment of activities of daily living	724066	ATXN8	ORPHA:98760
HP:0031058	Impairment of activities of daily living	6315	ATXN8OS	ORPHA:98760
HP:0031058	Impairment of activities of daily living	23503	ZFYVE26	OMIM:270700
HP:0031058	Impairment of activities of daily living	51611	DPH5	OMIM:620070
HP:0031058	Impairment of activities of daily living	283446	MYO1H	OMIM:619482
HP:0031058	Impairment of activities of daily living	2521	FUS	ORPHA:300605
HP:0031058	Impairment of activities of daily living	10280	SIGMAR1	ORPHA:300605
HP:0031058	Impairment of activities of daily living	57679	ALS2	ORPHA:300605
HP:0031058	Impairment of activities of daily living	57679	ALS2	OMIM:205100
HP:0031058	Impairment of activities of daily living	57679	ALS2	OMIM:607225
HP:0031058	Impairment of activities of daily living	6305	SBF1	OMIM:615284
HP:0031058	Impairment of activities of daily living	7750	ZMYM2	OMIM:619522
HP:0031058	Impairment of activities of daily living	7204	TRIO	ORPHA:476126
HP:0031058	Impairment of activities of daily living	6253	RTN2	OMIM:604805
HP:0031058	Impairment of activities of daily living	6253	RTN2	ORPHA:100993
HP:0031058	Impairment of activities of daily living	3145	HMBS	OMIM:176000
HP:0031058	Impairment of activities of daily living	3145	HMBS	ORPHA:79276
HP:0031058	Impairment of activities of daily living	10667	FARS2	ORPHA:466722
HP:0031058	Impairment of activities of daily living	25978	CHMP2B	OMIM:600795
HP:0031058	Impairment of activities of daily living	8913	CACNA1G	ORPHA:458803
HP:0031058	Impairment of activities of daily living	8913	CACNA1G	OMIM:616795
HP:0031058	Impairment of activities of daily living	339855	KY	OMIM:617114
HP:0031058	Impairment of activities of daily living	1315	COPB1	OMIM:619255
HP:0031058	Impairment of activities of daily living	7415	VCP	ORPHA:329478
HP:0031058	Impairment of activities of daily living	22943	DKK1	ORPHA:268882
HP:0031058	Impairment of activities of daily living	2678	GGT1	OMIM:231950
HP:0031058	Impairment of activities of daily living	3329	HSPD1	OMIM:605280
HP:0031058	Impairment of activities of daily living	3329	HSPD1	ORPHA:100994
HP:0031058	Impairment of activities of daily living	8799	PEX11B	OMIM:614920
HP:0031058	Impairment of activities of daily living	9757	KMT2B	OMIM:619934
HP:0031058	Impairment of activities of daily living	6683	SPAST	OMIM:182601
HP:0031058	Impairment of activities of daily living	3110	MNX1	OMIM:176450
HP:0031058	Impairment of activities of daily living	6509	SLC1A4	ORPHA:447997
HP:0031058	Impairment of activities of daily living	84188	FAR1	ORPHA:447753
HP:0031058	Impairment of activities of daily living	84978	FRMD5	OMIM:620094
HP:0031058	Impairment of activities of daily living	51271	UBAP1	ORPHA:100993
HP:0031058	Impairment of activities of daily living	5654	HTRA1	OMIM:600142
HP:0031058	Impairment of activities of daily living	126129	CPT1C	ORPHA:444099
HP:0031058	Impairment of activities of daily living	80217	CFAP43	OMIM:236690
HP:0031058	Impairment of activities of daily living	7305	TYROBP	OMIM:221770
HP:0031058	Impairment of activities of daily living	170302	ARX	OMIM:300419
HP:0031058	Impairment of activities of daily living	57165	GJC2	OMIM:613206
HP:0031058	Impairment of activities of daily living	3798	KIF5A	OMIM:604187
HP:0031058	Impairment of activities of daily living	55081	IFT57	OMIM:617927
HP:0031058	Impairment of activities of daily living	1188	CLCNKB	ORPHA:358
HP:0031058	Impairment of activities of daily living	6559	SLC12A3	ORPHA:358
HP:0031058	Impairment of activities of daily living	3119	HLA-DQB1	OMIM:126200
HP:0031058	Impairment of activities of daily living	5133	PDCD1	OMIM:126200
HP:0031058	Impairment of activities of daily living	3123	HLA-DRB1	OMIM:126200
HP:0031058	Impairment of activities of daily living	4001	LMNB1	OMIM:169500
HP:0031058	Impairment of activities of daily living	5354	PLP1	ORPHA:99015
HP:0031058	Impairment of activities of daily living	613	BCR	ORPHA:261330
HP:0031058	Impairment of activities of daily living	1399	CRKL	ORPHA:261330
HP:0031058	Impairment of activities of daily living	5594	MAPK1	ORPHA:261330
HP:0031058	Impairment of activities of daily living	6299	SALL1	ORPHA:857
HP:0031058	Impairment of activities of daily living	51339	DACT1	ORPHA:857
HP:0031058	Impairment of activities of daily living	1312	COMT	ORPHA:567
HP:0031058	Impairment of activities of daily living	221037	JMJD1C	ORPHA:567
HP:0031058	Impairment of activities of daily living	2812	GP1BB	ORPHA:567
HP:0031058	Impairment of activities of daily living	6239	RREB1	ORPHA:567
HP:0031058	Impairment of activities of daily living	6899	TBX1	ORPHA:567
HP:0031058	Impairment of activities of daily living	7290	HIRA	ORPHA:567
HP:0031058	Impairment of activities of daily living	9632	SEC24C	ORPHA:567
HP:0031058	Impairment of activities of daily living	7353	UFD1	ORPHA:567
HP:0031058	Impairment of activities of daily living	421	ARVCF	ORPHA:567
HP:0031058	Impairment of activities of daily living	8626	TP63	ORPHA:93930
HP:0031058	Impairment of activities of daily living	3670	ISL1	ORPHA:93930
HP:0031058	Impairment of activities of daily living	25778	DSTYK	ORPHA:101003
HP:0031058	Impairment of activities of daily living	6329	SCN4A	ORPHA:682
HP:0031058	Impairment of activities of daily living	10528	NOP56	ORPHA:276198
HP:0031058	Impairment of activities of daily living	4221	MEN1	ORPHA:652
HP:0031058	Impairment of activities of daily living	1027	CDKN1B	ORPHA:652
HP:0031058	Impairment of activities of daily living	1026	CDKN1A	ORPHA:652
HP:0031058	Impairment of activities of daily living	1030	CDKN2B	ORPHA:652
HP:0031058	Impairment of activities of daily living	1031	CDKN2C	ORPHA:652
HP:0031058	Impairment of activities of daily living	55703	POLR3B	OMIM:619742
HP:0031058	Impairment of activities of daily living	1280	COL2A1	ORPHA:86820
HP:0031058	Impairment of activities of daily living	10558	SPTLC1	ORPHA:36386
HP:0031058	Impairment of activities of daily living	25923	ATL3	ORPHA:36386
HP:0031058	Impairment of activities of daily living	9517	SPTLC2	ORPHA:36386
HP:0031058	Impairment of activities of daily living	51062	ATL1	ORPHA:36386
HP:0031058	Impairment of activities of daily living	5281	PIGF	OMIM:619356
HP:0031058	Impairment of activities of daily living	56896	DPYSL5	OMIM:619435
HP:0031058	Impairment of activities of daily living	5832	ALDH18A1	ORPHA:447760
HP:0031058	Impairment of activities of daily living	197322	ACSF3	ORPHA:289504
HP:0031058	Impairment of activities of daily living	215	ABCD1	ORPHA:139399
HP:0031058	Impairment of activities of daily living	1760	DMPK	ORPHA:589821
HP:0031058	Impairment of activities of daily living	23162	MAPK8IP3	OMIM:618443
HP:0031058	Impairment of activities of daily living	2132	EXT2	OMIM:616682
HP:0001712	Left ventricular hypertrophy	4088	SMAD3	ORPHA:284984
HP:0001712	Left ventricular hypertrophy	4088	SMAD3	OMIM:613795
HP:0001712	Left ventricular hypertrophy	274	BIN1	ORPHA:169186
HP:0001712	Left ventricular hypertrophy	10290	SPEG	ORPHA:169186
HP:0001712	Left ventricular hypertrophy	6261	RYR1	ORPHA:169186
HP:0001712	Left ventricular hypertrophy	7273	TTN	ORPHA:169186
HP:0001712	Left ventricular hypertrophy	291	SLC25A4	ORPHA:254892
HP:0001712	Left ventricular hypertrophy	291	SLC25A4	OMIM:615418
HP:0001712	Left ventricular hypertrophy	5428	POLG	ORPHA:254892
HP:0001712	Left ventricular hypertrophy	56652	TWNK	ORPHA:254892
HP:0001712	Left ventricular hypertrophy	11232	POLG2	ORPHA:254892
HP:0001712	Left ventricular hypertrophy	50484	RRM2B	ORPHA:254892
HP:0001712	Left ventricular hypertrophy	10128	LRPPRC	OMIM:220111
HP:0001712	Left ventricular hypertrophy	8216	LZTR1	OMIM:616564
HP:0001712	Left ventricular hypertrophy	776	CACNA1D	OMIM:615474
HP:0001712	Left ventricular hypertrophy	6331	SCN5A	OMIM:614022
HP:0001712	Left ventricular hypertrophy	5663	PSEN1	OMIM:613694
HP:0001712	Left ventricular hypertrophy	6016	RIT1	OMIM:615355
HP:0001712	Left ventricular hypertrophy	5664	PSEN2	OMIM:613697
HP:0001712	Left ventricular hypertrophy	19	ABCA1	OMIM:205400
HP:0001712	Left ventricular hypertrophy	19	ABCA1	ORPHA:31150
HP:0001712	Left ventricular hypertrophy	57539	WDR35	OMIM:613610
HP:0001712	Left ventricular hypertrophy	2997	GYS1	OMIM:611556
HP:0001712	Left ventricular hypertrophy	4720	NDUFS2	OMIM:618228
HP:0001712	Left ventricular hypertrophy	1482	NKX2-5	OMIM:108900
HP:0001712	Left ventricular hypertrophy	51343	FZR1	OMIM:620145
HP:0001712	Left ventricular hypertrophy	10159	ATP6AP2	ORPHA:93952
HP:0001712	Left ventricular hypertrophy	6840	SVIL	OMIM:619040
HP:0001712	Left ventricular hypertrophy	10021	HCN4	OMIM:163800
HP:0001712	Left ventricular hypertrophy	51218	GLRX5	ORPHA:401866
HP:0001712	Left ventricular hypertrophy	1837	DTNA	OMIM:604169
HP:0001712	Left ventricular hypertrophy	6341	SCO1	OMIM:619048
HP:0001712	Left ventricular hypertrophy	1278	COL1A2	ORPHA:230851
HP:0001712	Left ventricular hypertrophy	83715	ESPN	OMIM:618632
HP:0001712	Left ventricular hypertrophy	70	ACTC1	OMIM:612098
HP:0001712	Left ventricular hypertrophy	70	ACTC1	OMIM:613424
HP:0001712	Left ventricular hypertrophy	6392	SDHD	OMIM:619167
HP:0001712	Left ventricular hypertrophy	6392	SDHD	ORPHA:3208
HP:0001712	Left ventricular hypertrophy	10229	COQ7	OMIM:616733
HP:0001712	Left ventricular hypertrophy	84665	MYPN	OMIM:615248
HP:0001712	Left ventricular hypertrophy	54931	TRMT10C	OMIM:616974
HP:0001712	Left ventricular hypertrophy	9382	COG1	OMIM:611209
HP:0001712	Left ventricular hypertrophy	6868	ADAM17	ORPHA:294023
HP:0001712	Left ventricular hypertrophy	1956	EGFR	ORPHA:294023
HP:0001712	Left ventricular hypertrophy	79158	GNPTAB	ORPHA:576
HP:0001712	Left ventricular hypertrophy	4512	MT-CO1	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4513	MT-CO2	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4514	MT-CO3	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4519	MT-CYB	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4511	MT-TC	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4574	MT-TS1	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4575	MT-TS2	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4558	MT-TF	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4541	MT-ND6	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4567	MT-TL1	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4540	MT-ND5	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4566	MT-TK	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4535	MT-ND1	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4572	MT-TQ	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4577	MT-TV	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4578	MT-TW	OMIM:540000
HP:0001712	Left ventricular hypertrophy	4633	MYL2	OMIM:608758
HP:0001712	Left ventricular hypertrophy	153642	ARSK	OMIM:619698
HP:0001712	Left ventricular hypertrophy	57158	JPH2	OMIM:613873
HP:0001712	Left ventricular hypertrophy	5350	PLN	OMIM:613874
HP:0001712	Left ventricular hypertrophy	84100	ARL6	OMIM:209900
HP:0001712	Left ventricular hypertrophy	79140	CCDC28B	OMIM:209900
HP:0001712	Left ventricular hypertrophy	582	BBS1	OMIM:209900
HP:0001712	Left ventricular hypertrophy	708	C1QBP	OMIM:617713
HP:0001712	Left ventricular hypertrophy	91624	NEXN	OMIM:613876
HP:0001712	Left ventricular hypertrophy	1201	CLN3	ORPHA:228346
HP:0001712	Left ventricular hypertrophy	4634	MYL3	OMIM:608751
HP:0001712	Left ventricular hypertrophy	2717	GLA	ORPHA:324
HP:0001712	Left ventricular hypertrophy	2717	GLA	OMIM:301500
HP:0001712	Left ventricular hypertrophy	3291	HSD11B2	ORPHA:320
HP:0001712	Left ventricular hypertrophy	4015	LOX	OMIM:617168
HP:0001712	Left ventricular hypertrophy	88	ACTN2	OMIM:612158
HP:0001712	Left ventricular hypertrophy	27010	TPK1	OMIM:614458
HP:0001712	Left ventricular hypertrophy	7092	TLL1	ORPHA:99106
HP:0001712	Left ventricular hypertrophy	51241	COX16	OMIM:619355
HP:0001712	Left ventricular hypertrophy	4624	MYH6	OMIM:613251
HP:0001712	Left ventricular hypertrophy	4878	NPPA	OMIM:612201
HP:0001712	Left ventricular hypertrophy	29957	SLC25A24	OMIM:612289
HP:0001712	Left ventricular hypertrophy	8557	TCAP	OMIM:607487
HP:0001712	Left ventricular hypertrophy	3032	HADHB	ORPHA:746
HP:0001712	Left ventricular hypertrophy	3030	HADHA	ORPHA:746
HP:0001712	Left ventricular hypertrophy	9049	AIP	OMIM:102200
HP:0001712	Left ventricular hypertrophy	9049	AIP	ORPHA:99725
HP:0001712	Left ventricular hypertrophy	100147744	RNU7-1	OMIM:619487
HP:0001712	Left ventricular hypertrophy	2548	GAA	ORPHA:308552
HP:0001712	Left ventricular hypertrophy	10585	POMT1	ORPHA:86812
HP:0001712	Left ventricular hypertrophy	10651	MTX2	OMIM:619127
HP:0001712	Left ventricular hypertrophy	7276	TTR	ORPHA:85451
HP:0001712	Left ventricular hypertrophy	7841	MOGS	ORPHA:79330
HP:0001712	Left ventricular hypertrophy	4221	MEN1	ORPHA:99725
HP:0001712	Left ventricular hypertrophy	11155	LDB3	OMIM:601493
HP:0001712	Left ventricular hypertrophy	7139	TNNT2	OMIM:601494
HP:0001712	Left ventricular hypertrophy	2273	FHL1	OMIM:300280
HP:0001712	Left ventricular hypertrophy	57724	EPG5	OMIM:242840
HP:0001712	Left ventricular hypertrophy	4841	NONO	ORPHA:466791
HP:0001712	Left ventricular hypertrophy	55739	NAXD	OMIM:618321
HP:0001712	Left ventricular hypertrophy	7137	TNNI3	OMIM:115210
HP:0001712	Left ventricular hypertrophy	79147	FKRP	OMIM:613153
HP:0001712	Left ventricular hypertrophy	29954	POMT2	OMIM:613156
HP:0001712	Left ventricular hypertrophy	6389	SDHA	ORPHA:3208
HP:0001712	Left ventricular hypertrophy	6390	SDHB	ORPHA:3208
HP:0001712	Left ventricular hypertrophy	644096	SDHAF1	ORPHA:3208
HP:0001712	Left ventricular hypertrophy	51778	MYOZ2	OMIM:613838
HP:0001712	Left ventricular hypertrophy	9469	CHST3	OMIM:245600
HP:0001712	Left ventricular hypertrophy	26229	B3GAT3	OMIM:245600
HP:0001712	Left ventricular hypertrophy	57017	COQ9	OMIM:614654
HP:0001712	Left ventricular hypertrophy	57592	ZNF687	OMIM:616833
HP:0001712	Left ventricular hypertrophy	1756	DMD	ORPHA:206546
HP:0001712	Left ventricular hypertrophy	3762	KCNJ5	ORPHA:251274
HP:0001712	Left ventricular hypertrophy	58499	ZNF462	OMIM:618619
HP:0001712	Left ventricular hypertrophy	84705	GTPBP3	ORPHA:444013
HP:0001712	Left ventricular hypertrophy	10060	ABCC9	OMIM:239850
HP:0005170	Complete heart block with broad QRS complexes	6331	SCN5A	OMIM:113900
HP:0002804	Arthrogryposis multiplex congenita	1718	DHCR24	OMIM:602398
HP:0002804	Arthrogryposis multiplex congenita	2673	GFPT1	OMIM:608931
HP:0002804	Arthrogryposis multiplex congenita	1145	CHRNE	OMIM:608931
HP:0002804	Arthrogryposis multiplex congenita	5339	PLEC	OMIM:226730
HP:0002804	Arthrogryposis multiplex congenita	3691	ITGB4	OMIM:226730
HP:0002804	Arthrogryposis multiplex congenita	8506	CNTNAP1	OMIM:618186
HP:0002804	Arthrogryposis multiplex congenita	91754	NEK9	OMIM:614262
HP:0002804	Arthrogryposis multiplex congenita	5913	RAPSN	OMIM:616326
HP:0002804	Arthrogryposis multiplex congenita	5913	RAPSN	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	2632	GBE1	OMIM:232500
HP:0002804	Arthrogryposis multiplex congenita	55627	SMPD4	OMIM:618622
HP:0002804	Arthrogryposis multiplex congenita	1134	CHRNA1	OMIM:608930
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	OMIM:256030
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	OMIM:619334
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	2629	GBA1	OMIM:608013
HP:0002804	Arthrogryposis multiplex congenita	2629	GBA1	ORPHA:85212
HP:0002804	Arthrogryposis multiplex congenita	55593	OTUD5	OMIM:301056
HP:0002804	Arthrogryposis multiplex congenita	59341	TRPV4	OMIM:156530
HP:0002804	Arthrogryposis multiplex congenita	59341	TRPV4	OMIM:600175
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	OMIM:161800
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	OMIM:108120
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	OMIM:615731
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	56203	LMOD3	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	56203	LMOD3	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	1073	CFL2	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	60482	SLC5A7	OMIM:617143
HP:0002804	Arthrogryposis multiplex congenita	60482	SLC5A7	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	2073	ERCC5	OMIM:616570
HP:0002804	Arthrogryposis multiplex congenita	2073	ERCC5	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	7170	TPM3	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	7170	TPM3	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	57222	ERGIC1	OMIM:208100
HP:0002804	Arthrogryposis multiplex congenita	6536	SLC6A9	OMIM:617301
HP:0002804	Arthrogryposis multiplex congenita	131377	KLHL40	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	84162	BLTP1	OMIM:617822
HP:0002804	Arthrogryposis multiplex congenita	23729	SHPK	ORPHA:440713
HP:0002804	Arthrogryposis multiplex congenita	79158	GNPTAB	OMIM:252500
HP:0002804	Arthrogryposis multiplex congenita	3767	KCNJ11	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	6774	STAT3	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	2645	GCK	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	3651	PDX1	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	6833	ABCC8	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	3630	INS	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	2067	ERCC1	OMIM:610758
HP:0002804	Arthrogryposis multiplex congenita	2067	ERCC1	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2733	GLE1	OMIM:253310
HP:0002804	Arthrogryposis multiplex congenita	2733	GLE1	OMIM:611890
HP:0002804	Arthrogryposis multiplex congenita	56975	FAM20C	OMIM:259775
HP:0002804	Arthrogryposis multiplex congenita	6904	TBCD	ORPHA:496641
HP:0002804	Arthrogryposis multiplex congenita	6904	TBCD	OMIM:617193
HP:0002804	Arthrogryposis multiplex congenita	1146	CHRNG	OMIM:265000
HP:0002804	Arthrogryposis multiplex congenita	1146	CHRNG	ORPHA:2990
HP:0002804	Arthrogryposis multiplex congenita	5980	REV3L	ORPHA:570
HP:0002804	Arthrogryposis multiplex congenita	23129	PLXND1	ORPHA:570
HP:0002804	Arthrogryposis multiplex congenita	63925	ZNF335	OMIM:615095
HP:0002804	Arthrogryposis multiplex congenita	55906	ZC4H2	OMIM:314580
HP:0002804	Arthrogryposis multiplex congenita	1020	CDK5	OMIM:616342
HP:0002804	Arthrogryposis multiplex congenita	23345	SYNE1	OMIM:618484
HP:0002804	Arthrogryposis multiplex congenita	23345	SYNE1	ORPHA:319332
HP:0002804	Arthrogryposis multiplex congenita	113189	CHST14	ORPHA:2953
HP:0002804	Arthrogryposis multiplex congenita	113189	CHST14	OMIM:601776
HP:0002804	Arthrogryposis multiplex congenita	29940	DSE	ORPHA:2953
HP:0002804	Arthrogryposis multiplex congenita	5119	CHMP1A	OMIM:614961
HP:0002804	Arthrogryposis multiplex congenita	91869	RFT1	ORPHA:244310
HP:0002804	Arthrogryposis multiplex congenita	2068	ERCC2	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2074	ERCC6	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2074	ERCC6	OMIM:214150
HP:0002804	Arthrogryposis multiplex congenita	9326	ZNHIT3	ORPHA:2836
HP:0002804	Arthrogryposis multiplex congenita	547	KIF1A	ORPHA:2836
HP:0002804	Arthrogryposis multiplex congenita	6663	SOX10	ORPHA:163746
HP:0002804	Arthrogryposis multiplex congenita	6663	SOX10	OMIM:609136
HP:0002804	Arthrogryposis multiplex congenita	55681	SCYL2	OMIM:618766
HP:0002804	Arthrogryposis multiplex congenita	51008	ASCC1	OMIM:616867
HP:0002804	Arthrogryposis multiplex congenita	57211	ADGRG6	OMIM:616503
HP:0002804	Arthrogryposis multiplex congenita	9325	TRIP4	OMIM:616866
HP:0002804	Arthrogryposis multiplex congenita	7136	TNNI2	OMIM:601680
HP:0002804	Arthrogryposis multiplex congenita	283989	TSEN54	ORPHA:166063
HP:0002804	Arthrogryposis multiplex congenita	26276	VPS33B	OMIM:208085
HP:0002804	Arthrogryposis multiplex congenita	57498	KIDINS220	OMIM:619501
HP:0002804	Arthrogryposis multiplex congenita	26053	AUTS2	ORPHA:352490
HP:0002804	Arthrogryposis multiplex congenita	26053	AUTS2	OMIM:615834
HP:0002804	Arthrogryposis multiplex congenita	7317	UBA1	OMIM:301830
HP:0002804	Arthrogryposis multiplex congenita	7317	UBA1	ORPHA:1145
HP:0002804	Arthrogryposis multiplex congenita	4604	MYBPC1	OMIM:614335
HP:0002804	Arthrogryposis multiplex congenita	2783	GNB2	OMIM:619503
HP:0002804	Arthrogryposis multiplex congenita	63894	VIPAS39	OMIM:613404
HP:0002804	Arthrogryposis multiplex congenita	2065	ERBB3	OMIM:243180
HP:0002804	Arthrogryposis multiplex congenita	2065	ERBB3	OMIM:607598
HP:0002804	Arthrogryposis multiplex congenita	54551	MAGEL2	OMIM:615547
HP:0002804	Arthrogryposis multiplex congenita	23265	EXOC7	OMIM:619072
HP:0002804	Arthrogryposis multiplex congenita	4927	NUP88	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4927	NUP88	OMIM:618393
HP:0002804	Arthrogryposis multiplex congenita	7846	TUBA1A	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4654	MYOD1	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4593	MUSK	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4593	MUSK	OMIM:208150
HP:0002804	Arthrogryposis multiplex congenita	6572	SLC18A3	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	6572	SLC18A3	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	285489	DOK7	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	1182	CLCN3	OMIM:619512
HP:0002804	Arthrogryposis multiplex congenita	63895	PIEZO2	OMIM:114300
HP:0002804	Arthrogryposis multiplex congenita	63895	PIEZO2	ORPHA:2461
HP:0002804	Arthrogryposis multiplex congenita	94005	PIGS	OMIM:618143
HP:0002804	Arthrogryposis multiplex congenita	5530	PPP3CA	OMIM:618265
HP:0002804	Arthrogryposis multiplex congenita	1103	CHAT	OMIM:254210
HP:0002804	Arthrogryposis multiplex congenita	1103	CHAT	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	100128927	ZBTB42	OMIM:616248
HP:0002804	Arthrogryposis multiplex congenita	1861	TOR1A	OMIM:618947
HP:0002804	Arthrogryposis multiplex congenita	23443	SLC35A3	OMIM:615553
HP:0002804	Arthrogryposis multiplex congenita	11340	EXOSC8	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	5393	EXOSC9	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	23287	AGTPBP1	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	51010	EXOSC3	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	7443	VRK1	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	91137	SLC25A46	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	5352	PLOD2	ORPHA:2771
HP:0002804	Arthrogryposis multiplex congenita	60681	FKBP10	ORPHA:2771
HP:0002804	Arthrogryposis multiplex congenita	55165	CEP55	OMIM:236500
HP:0002804	Arthrogryposis multiplex congenita	246329	STAC3	ORPHA:168572
HP:0002804	Arthrogryposis multiplex congenita	3800	KIF5C	OMIM:615282
HP:0002804	Arthrogryposis multiplex congenita	5297	PI4KA	OMIM:616531
HP:0002804	Arthrogryposis multiplex congenita	23522	KAT6B	ORPHA:85201
HP:0002804	Arthrogryposis multiplex congenita	84340	GFM2	OMIM:618397
HP:0002804	Arthrogryposis multiplex congenita	9928	KIF14	OMIM:616258
HP:0002804	Arthrogryposis multiplex congenita	163175	LGI4	OMIM:617468
HP:0002804	Arthrogryposis multiplex congenita	4649	MYO9A	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	1305	COL13A1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6576	SLC25A1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6843	VAMP1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	375790	AGRN	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	127833	SYT2	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6616	SNAP25	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	23396	PIP5K1C	OMIM:611369
HP:0002804	Arthrogryposis multiplex congenita	3911	LAMA5	OMIM:620076
HP:0002804	Arthrogryposis multiplex congenita	4626	MYH8	OMIM:158300
HP:0002804	Arthrogryposis multiplex congenita	4621	MYH3	OMIM:178110
HP:0002804	Arthrogryposis multiplex congenita	4621	MYH3	ORPHA:2990
HP:0002804	Arthrogryposis multiplex congenita	9319	TRIP13	OMIM:617598
HP:0002804	Arthrogryposis multiplex congenita	10479	SLC9A6	ORPHA:85278
HP:0002804	Arthrogryposis multiplex congenita	777	CACNA1E	OMIM:618285
HP:0002804	Arthrogryposis multiplex congenita	200205	IBA57	OMIM:615330
HP:0002804	Arthrogryposis multiplex congenita	4000	LMNA	ORPHA:1662
HP:0002804	Arthrogryposis multiplex congenita	10269	ZMPSTE24	ORPHA:1662
HP:0002804	Arthrogryposis multiplex congenita	84665	MYPN	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	390594	KBTBD13	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	10195	ALG3	ORPHA:79321
HP:0002804	Arthrogryposis multiplex congenita	10195	ALG3	OMIM:601110
HP:0002804	Arthrogryposis multiplex congenita	3339	HSPG2	ORPHA:800
HP:0002804	Arthrogryposis multiplex congenita	23299	BICD2	OMIM:618291
HP:0002804	Arthrogryposis multiplex congenita	91574	MTRFR	ORPHA:320375
HP:0002804	Arthrogryposis multiplex congenita	54101	RIPK4	OMIM:263650
HP:0002804	Arthrogryposis multiplex congenita	8216	LZTR1	OMIM:605275
HP:0002804	Arthrogryposis multiplex congenita	2201	FBN2	ORPHA:115
HP:0005187	Progressive joint destruction	2157	F8	ORPHA:169802
HP:0005186	Synovial hypertrophy	6775	STAT4	ORPHA:85408
HP:0005186	Synovial hypertrophy	3560	IL2RB	ORPHA:85408
HP:0005186	Synovial hypertrophy	79722	ANKRD55	ORPHA:85408
HP:0005186	Synovial hypertrophy	26191	PTPN22	ORPHA:85408
HP:0005186	Synovial hypertrophy	919	CD247	ORPHA:85408
HP:0005186	Synovial hypertrophy	3559	IL2RA	ORPHA:85408
HP:0005186	Synovial hypertrophy	5771	PTPN2	ORPHA:85408
HP:0005186	Synovial hypertrophy	10216	PRG4	OMIM:208250
HP:0005184	Prolonged QTc interval	801	CALM1	ORPHA:101016
HP:0005184	Prolonged QTc interval	801	CALM1	OMIM:616247
HP:0005184	Prolonged QTc interval	3753	KCNE1	ORPHA:101016
HP:0005184	Prolonged QTc interval	3753	KCNE1	OMIM:613695
HP:0005184	Prolonged QTc interval	3753	KCNE1	ORPHA:90647
HP:0005184	Prolonged QTc interval	3762	KCNJ5	ORPHA:101016
HP:0005184	Prolonged QTc interval	3762	KCNJ5	OMIM:613485
HP:0005184	Prolonged QTc interval	3762	KCNJ5	ORPHA:37553
HP:0005184	Prolonged QTc interval	805	CALM2	ORPHA:101016
HP:0005184	Prolonged QTc interval	805	CALM2	OMIM:616249
HP:0005184	Prolonged QTc interval	6910	TBX5	ORPHA:101016
HP:0005184	Prolonged QTc interval	6336	SCN10A	ORPHA:101016
HP:0005184	Prolonged QTc interval	3757	KCNH2	ORPHA:101016
HP:0005184	Prolonged QTc interval	3757	KCNH2	OMIM:613688
HP:0005184	Prolonged QTc interval	9992	KCNE2	ORPHA:101016
HP:0005184	Prolonged QTc interval	9992	KCNE2	OMIM:613693
HP:0005184	Prolonged QTc interval	10142	AKAP9	ORPHA:101016
HP:0005184	Prolonged QTc interval	10142	AKAP9	OMIM:611820
HP:0005184	Prolonged QTc interval	9722	NOS1AP	ORPHA:101016
HP:0005184	Prolonged QTc interval	775	CACNA1C	ORPHA:101016
HP:0005184	Prolonged QTc interval	775	CACNA1C	OMIM:618447
HP:0005184	Prolonged QTc interval	3784	KCNQ1	ORPHA:101016
HP:0005184	Prolonged QTc interval	3784	KCNQ1	ORPHA:90647
HP:0005184	Prolonged QTc interval	3784	KCNQ1	OMIM:220400
HP:0005184	Prolonged QTc interval	3784	KCNQ1	OMIM:192500
HP:0005184	Prolonged QTc interval	3784	KCNQ1	OMIM:607554
HP:0005184	Prolonged QTc interval	10345	TRDN	ORPHA:101016
HP:0005184	Prolonged QTc interval	6331	SCN5A	ORPHA:101016
HP:0005184	Prolonged QTc interval	6331	SCN5A	OMIM:603830
HP:0005184	Prolonged QTc interval	6330	SCN4B	ORPHA:101016
HP:0005184	Prolonged QTc interval	808	CALM3	ORPHA:101016
HP:0005184	Prolonged QTc interval	808	CALM3	OMIM:618782
HP:0005184	Prolonged QTc interval	6640	SNTA1	ORPHA:101016
HP:0005184	Prolonged QTc interval	6640	SNTA1	OMIM:612955
HP:0005184	Prolonged QTc interval	859	CAV3	ORPHA:101016
HP:0005184	Prolonged QTc interval	287	ANK2	ORPHA:101016
HP:0005184	Prolonged QTc interval	253017	TECRL	OMIM:614021
HP:0005184	Prolonged QTc interval	3741	KCNA5	OMIM:612240
HP:0005184	Prolonged QTc interval	3759	KCNJ2	OMIM:170390
HP:0005184	Prolonged QTc interval	3759	KCNJ2	OMIM:613980
HP:0005184	Prolonged QTc interval	3759	KCNJ2	ORPHA:37553
HP:0005184	Prolonged QTc interval	6840	SVIL	OMIM:619040
HP:0005184	Prolonged QTc interval	10021	HCN4	OMIM:163800
HP:0005184	Prolonged QTc interval	2318	FLNC	OMIM:617047
HP:0005184	Prolonged QTc interval	51086	TNNI3K	OMIM:616117
HP:0005184	Prolonged QTc interval	144245	ALG10B	OMIM:613688
HP:0005184	Prolonged QTc interval	128989	TANGO2	OMIM:616878
HP:0005184	Prolonged QTc interval	4204	MECP2	OMIM:312750
HP:0005183	Pericardial lymphangiectasia	79633	FAT4	OMIM:616006
HP:0005183	Pericardial lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0005182	Bicuspid pulmonary valve	7046	TGFBR1	OMIM:609192
HP:0005182	Bicuspid pulmonary valve	7048	TGFBR2	OMIM:610168
HP:0005182	Bicuspid pulmonary valve	145173	B3GLCT	ORPHA:709
HP:0005181	Premature coronary artery atherosclerosis	3949	LDLR	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	338	APOB	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	64240	ABCG5	OMIM:618666
HP:0005181	Premature coronary artery atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0005181	Premature coronary artery atherosclerosis	3990	LIPC	ORPHA:140905
HP:0005181	Premature coronary artery atherosclerosis	335	APOA1	OMIM:618463
HP:0005181	Premature coronary artery atherosclerosis	335	APOA1	ORPHA:425
HP:0005181	Premature coronary artery atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0005181	Premature coronary artery atherosclerosis	1161	ERCC8	ORPHA:90324
HP:0005181	Premature coronary artery atherosclerosis	2074	ERCC6	ORPHA:90324
HP:0005181	Premature coronary artery atherosclerosis	19	ABCA1	OMIM:604091
HP:0005181	Premature coronary artery atherosclerosis	19	ABCA1	ORPHA:425
HP:0005181	Premature coronary artery atherosclerosis	84984	CEP19	OMIM:615703
HP:0005181	Premature coronary artery atherosclerosis	59	ACTA2	OMIM:611788
HP:0005181	Premature coronary artery atherosclerosis	4000	LMNA	OMIM:176670
HP:0005181	Premature coronary artery atherosclerosis	338328	GPIHBP1	OMIM:615947
HP:0005181	Premature coronary artery atherosclerosis	4205	MEF2A	OMIM:608320
HP:0005181	Premature coronary artery atherosclerosis	348	APOE	ORPHA:412
HP:0005181	Premature coronary artery atherosclerosis	4040	LRP6	OMIM:610947
HP:0031060	Impaired ability to dress oneself	10558	SPTLC1	ORPHA:36386
HP:0031060	Impaired ability to dress oneself	25923	ATL3	ORPHA:36386
HP:0031060	Impaired ability to dress oneself	9517	SPTLC2	ORPHA:36386
HP:0031060	Impaired ability to dress oneself	51062	ATL1	ORPHA:36386
HP:0031061	Impaired toileting ability	5281	PIGF	OMIM:619356
HP:0031061	Impaired toileting ability	56896	DPYSL5	OMIM:619435
HP:0031064	Impaired continence	55906	ZC4H2	OMIM:301041
HP:0031064	Impaired continence	6513	SLC2A1	ORPHA:64280
HP:0031064	Impaired continence	2562	GABRB3	ORPHA:64280
HP:0031064	Impaired continence	2554	GABRA1	ORPHA:64280
HP:0031064	Impaired continence	8912	CACNA1H	ORPHA:64280
HP:0031064	Impaired continence	8629	JRK	ORPHA:64280
HP:0031064	Impaired continence	2566	GABRG2	ORPHA:64280
HP:0031064	Impaired continence	23394	ADNP	ORPHA:404448
HP:0031064	Impaired continence	9897	WASHC5	ORPHA:100989
HP:0031064	Impaired continence	9897	WASHC5	OMIM:603563
HP:0031064	Impaired continence	10466	COG5	ORPHA:263487
HP:0031064	Impaired continence	340533	NEXMIF	OMIM:300912
HP:0031064	Impaired continence	23345	SYNE1	ORPHA:88644
HP:0031064	Impaired continence	123606	NIPA1	ORPHA:100988
HP:0031064	Impaired continence	123606	NIPA1	OMIM:600363
HP:0031064	Impaired continence	23446	SLC44A1	OMIM:618868
HP:0031064	Impaired continence	59341	TRPV4	OMIM:606071
HP:0031064	Impaired continence	22880	MORC2	OMIM:616688
HP:0031064	Impaired continence	22880	MORC2	ORPHA:466768
HP:0031064	Impaired continence	57704	GBA2	ORPHA:352641
HP:0031064	Impaired continence	57704	GBA2	ORPHA:320391
HP:0031064	Impaired continence	57704	GBA2	OMIM:614409
HP:0031064	Impaired continence	1786	DNMT1	ORPHA:314404
HP:0031064	Impaired continence	4803	NGF	OMIM:608654
HP:0031064	Impaired continence	57216	VANGL2	OMIM:182940
HP:0031064	Impaired continence	6347	CCL2	OMIM:182940
HP:0031064	Impaired continence	81839	VANGL1	OMIM:182940
HP:0031064	Impaired continence	6862	TBXT	OMIM:182940
HP:0031064	Impaired continence	80199	FUZ	OMIM:182940
HP:0031064	Impaired continence	27235	COQ2	OMIM:146500
HP:0031064	Impaired continence	274	BIN1	ORPHA:169189
HP:0031064	Impaired continence	64419	MTMR14	ORPHA:169189
HP:0031064	Impaired continence	4618	MYF6	ORPHA:169189
HP:0031064	Impaired continence	1785	DNM2	ORPHA:169189
HP:0031064	Impaired continence	6261	RYR1	ORPHA:169189
HP:0031064	Impaired continence	5660	PSAP	OMIM:249900
HP:0031064	Impaired continence	5660	PSAP	ORPHA:309271
HP:0031064	Impaired continence	5660	PSAP	ORPHA:309263
HP:0031064	Impaired continence	5660	PSAP	ORPHA:309256
HP:0031064	Impaired continence	3074	HEXB	ORPHA:309162
HP:0031064	Impaired continence	3074	HEXB	OMIM:268800
HP:0031064	Impaired continence	10479	SLC9A6	OMIM:300243
HP:0031064	Impaired continence	81790	RNF170	OMIM:619686
HP:0031064	Impaired continence	25814	ATXN10	OMIM:603516
HP:0031064	Impaired continence	6311	ATXN2	OMIM:183090
HP:0031064	Impaired continence	6335	SCN9A	OMIM:243000
HP:0031064	Impaired continence	8878	SQSTM1	OMIM:617145
HP:0031064	Impaired continence	5610	EIF2AK2	OMIM:618877
HP:0031064	Impaired continence	128486	FITM2	OMIM:618635
HP:0031064	Impaired continence	2581	GALC	ORPHA:206448
HP:0031064	Impaired continence	3508	IGHMBP2	OMIM:604320
HP:0031064	Impaired continence	100996717	NOTCH2NLC	OMIM:603472
HP:0031064	Impaired continence	6904	TBCD	ORPHA:496641
HP:0031064	Impaired continence	6904	TBCD	OMIM:617193
HP:0031064	Impaired continence	90161	HS6ST2	OMIM:301025
HP:0031064	Impaired continence	410	ARSA	ORPHA:309271
HP:0031064	Impaired continence	410	ARSA	ORPHA:309263
HP:0031064	Impaired continence	410	ARSA	ORPHA:309256
HP:0031064	Impaired continence	410	ARSA	OMIM:250100
HP:0031064	Impaired continence	2590	GALNT2	OMIM:618885
HP:0031064	Impaired continence	51319	RSRC1	OMIM:618402
HP:0031064	Impaired continence	54463	RETREG1	OMIM:613115
HP:0031064	Impaired continence	6575	SLC20A2	OMIM:213600
HP:0031064	Impaired continence	5155	PDGFB	OMIM:213600
HP:0031064	Impaired continence	5155	PDGFB	ORPHA:2495
HP:0031064	Impaired continence	5159	PDGFRB	OMIM:213600
HP:0031064	Impaired continence	549	AUH	OMIM:250950
HP:0031064	Impaired continence	80208	SPG11	OMIM:602099
HP:0031064	Impaired continence	80208	SPG11	ORPHA:300605
HP:0031064	Impaired continence	80208	SPG11	OMIM:604360
HP:0031064	Impaired continence	7276	TTR	OMIM:105210
HP:0031064	Impaired continence	823	CAPN1	OMIM:616907
HP:0031064	Impaired continence	10273	STUB1	OMIM:618093
HP:0031064	Impaired continence	2632	GBE1	ORPHA:206583
HP:0031064	Impaired continence	2632	GBE1	OMIM:263570
HP:0031064	Impaired continence	1137	CHRNA4	ORPHA:98784
HP:0031064	Impaired continence	1135	CHRNA2	ORPHA:98784
HP:0031064	Impaired continence	57010	CABP4	ORPHA:98784
HP:0031064	Impaired continence	1141	CHRNB2	ORPHA:98784
HP:0031064	Impaired continence	57582	KCNT1	ORPHA:98784
HP:0031064	Impaired continence	1392	CRH	ORPHA:98784
HP:0031064	Impaired continence	9681	DEPDC5	ORPHA:98784
HP:0031064	Impaired continence	57531	HACE1	ORPHA:464282
HP:0031064	Impaired continence	9420	CYP7B1	OMIM:270800
HP:0031064	Impaired continence	6687	SPG7	OMIM:607259
HP:0031064	Impaired continence	26278	SACS	ORPHA:98
HP:0031064	Impaired continence	9839	ZEB2	ORPHA:261552
HP:0031064	Impaired continence	9839	ZEB2	ORPHA:261537
HP:0031064	Impaired continence	2332	FMR1	OMIM:300623
HP:0031064	Impaired continence	23400	ATP13A2	ORPHA:306674
HP:0031064	Impaired continence	9860	LRIG2	ORPHA:2704
HP:0031064	Impaired continence	60495	HPSE2	ORPHA:2704
HP:0031064	Impaired continence	9907	AP5Z1	OMIM:613647
HP:0031064	Impaired continence	9907	AP5Z1	ORPHA:306511
HP:0031064	Impaired continence	79152	FA2H	OMIM:612319
HP:0031064	Impaired continence	79152	FA2H	ORPHA:171629
HP:0031064	Impaired continence	4747	NEFL	ORPHA:101085
HP:0031064	Impaired continence	6908	TBP	OMIM:607136
HP:0031064	Impaired continence	4854	NOTCH3	OMIM:125310
HP:0031064	Impaired continence	28982	FLVCR1	OMIM:609033
HP:0031064	Impaired continence	3752	KCND3	ORPHA:98772
HP:0031064	Impaired continence	7840	ALMS1	ORPHA:64
HP:0031064	Impaired continence	2261	FGFR3	OMIM:616482
HP:0031064	Impaired continence	56978	PRDM8	OMIM:616640
HP:0031064	Impaired continence	23259	DDHD2	OMIM:615033
HP:0031064	Impaired continence	2548	GAA	OMIM:232300
HP:0031064	Impaired continence	92609	TIMM50	OMIM:617698
HP:0031064	Impaired continence	92609	TIMM50	ORPHA:505216
HP:0031064	Impaired continence	8314	BAP1	ORPHA:2495
HP:0031064	Impaired continence	4771	NF2	ORPHA:2495
HP:0031064	Impaired continence	6598	SMARCB1	ORPHA:2495
HP:0031064	Impaired continence	84231	TRAF7	ORPHA:2495
HP:0031064	Impaired continence	6608	SMO	ORPHA:2495
HP:0031064	Impaired continence	207	AKT1	ORPHA:2495
HP:0031064	Impaired continence	5290	PIK3CA	ORPHA:2495
HP:0031064	Impaired continence	7015	TERT	ORPHA:2495
HP:0031064	Impaired continence	51684	SUFU	ORPHA:2495
HP:0031064	Impaired continence	6605	SMARCE1	ORPHA:2495
HP:0031064	Impaired continence	54796	BNC2	ORPHA:93110
HP:0031064	Impaired continence	54796	BNC2	OMIM:618612
HP:0031064	Impaired continence	3748	KCNC3	ORPHA:98768
HP:0031064	Impaired continence	80025	PANK2	OMIM:234200
HP:0031064	Impaired continence	724066	ATXN8	ORPHA:98760
HP:0031064	Impaired continence	6315	ATXN8OS	ORPHA:98760
HP:0031064	Impaired continence	23503	ZFYVE26	OMIM:270700
HP:0031064	Impaired continence	51611	DPH5	OMIM:620070
HP:0031064	Impaired continence	283446	MYO1H	OMIM:619482
HP:0031064	Impaired continence	2521	FUS	ORPHA:300605
HP:0031064	Impaired continence	10280	SIGMAR1	ORPHA:300605
HP:0031064	Impaired continence	10558	SPTLC1	ORPHA:300605
HP:0031064	Impaired continence	57679	ALS2	ORPHA:300605
HP:0031064	Impaired continence	57679	ALS2	OMIM:205100
HP:0031064	Impaired continence	57679	ALS2	OMIM:607225
HP:0031064	Impaired continence	6305	SBF1	OMIM:615284
HP:0031064	Impaired continence	7750	ZMYM2	OMIM:619522
HP:0031064	Impaired continence	7204	TRIO	ORPHA:476126
HP:0031064	Impaired continence	6253	RTN2	OMIM:604805
HP:0031064	Impaired continence	6253	RTN2	ORPHA:100993
HP:0031064	Impaired continence	3145	HMBS	OMIM:176000
HP:0031064	Impaired continence	3145	HMBS	ORPHA:79276
HP:0031064	Impaired continence	10667	FARS2	ORPHA:466722
HP:0031064	Impaired continence	25978	CHMP2B	OMIM:600795
HP:0031064	Impaired continence	8913	CACNA1G	ORPHA:458803
HP:0031064	Impaired continence	8913	CACNA1G	OMIM:616795
HP:0031064	Impaired continence	339855	KY	OMIM:617114
HP:0031064	Impaired continence	1315	COPB1	OMIM:619255
HP:0031064	Impaired continence	7415	VCP	ORPHA:329478
HP:0031064	Impaired continence	22943	DKK1	ORPHA:268882
HP:0031064	Impaired continence	2678	GGT1	OMIM:231950
HP:0031064	Impaired continence	3329	HSPD1	OMIM:605280
HP:0031064	Impaired continence	3329	HSPD1	ORPHA:100994
HP:0031064	Impaired continence	8799	PEX11B	OMIM:614920
HP:0031064	Impaired continence	9757	KMT2B	OMIM:619934
HP:0031064	Impaired continence	6683	SPAST	OMIM:182601
HP:0031064	Impaired continence	51062	ATL1	OMIM:182600
HP:0031064	Impaired continence	3110	MNX1	OMIM:176450
HP:0031064	Impaired continence	6509	SLC1A4	ORPHA:447997
HP:0031064	Impaired continence	84188	FAR1	ORPHA:447753
HP:0031064	Impaired continence	84978	FRMD5	OMIM:620094
HP:0031064	Impaired continence	51271	UBAP1	ORPHA:100993
HP:0031064	Impaired continence	5654	HTRA1	OMIM:600142
HP:0031064	Impaired continence	126129	CPT1C	ORPHA:444099
HP:0031064	Impaired continence	80217	CFAP43	OMIM:236690
HP:0031064	Impaired continence	7305	TYROBP	OMIM:221770
HP:0031064	Impaired continence	170302	ARX	OMIM:300419
HP:0031064	Impaired continence	57165	GJC2	OMIM:613206
HP:0031064	Impaired continence	3798	KIF5A	OMIM:604187
HP:0031064	Impaired continence	55081	IFT57	OMIM:617927
HP:0031064	Impaired continence	1188	CLCNKB	ORPHA:358
HP:0031064	Impaired continence	6559	SLC12A3	ORPHA:358
HP:0031064	Impaired continence	3119	HLA-DQB1	OMIM:126200
HP:0031064	Impaired continence	5133	PDCD1	OMIM:126200
HP:0031064	Impaired continence	3123	HLA-DRB1	OMIM:126200
HP:0031064	Impaired continence	4001	LMNB1	OMIM:169500
HP:0031064	Impaired continence	5354	PLP1	ORPHA:99015
HP:0031064	Impaired continence	613	BCR	ORPHA:261330
HP:0031064	Impaired continence	1399	CRKL	ORPHA:261330
HP:0031064	Impaired continence	5594	MAPK1	ORPHA:261330
HP:0031064	Impaired continence	6299	SALL1	ORPHA:857
HP:0031064	Impaired continence	51339	DACT1	ORPHA:857
HP:0031064	Impaired continence	1312	COMT	ORPHA:567
HP:0031064	Impaired continence	221037	JMJD1C	ORPHA:567
HP:0031064	Impaired continence	2812	GP1BB	ORPHA:567
HP:0031064	Impaired continence	6239	RREB1	ORPHA:567
HP:0031064	Impaired continence	6899	TBX1	ORPHA:567
HP:0031064	Impaired continence	7290	HIRA	ORPHA:567
HP:0031064	Impaired continence	9632	SEC24C	ORPHA:567
HP:0031064	Impaired continence	7353	UFD1	ORPHA:567
HP:0031064	Impaired continence	421	ARVCF	ORPHA:567
HP:0031064	Impaired continence	8626	TP63	ORPHA:93930
HP:0031064	Impaired continence	3670	ISL1	ORPHA:93930
HP:0031064	Impaired continence	25778	DSTYK	ORPHA:101003
HP:0031064	Impaired continence	6329	SCN4A	ORPHA:682
HP:0031064	Impaired continence	10528	NOP56	ORPHA:276198
HP:0031064	Impaired continence	5832	ALDH18A1	ORPHA:447760
HP:0031064	Impaired continence	197322	ACSF3	ORPHA:289504
HP:0031064	Impaired continence	215	ABCD1	ORPHA:139399
HP:0031064	Impaired continence	1760	DMPK	ORPHA:589821
HP:0031064	Impaired continence	23162	MAPK8IP3	OMIM:618443
HP:0031064	Impaired continence	2132	EXT2	OMIM:616682
HP:0031065	Abnormal ovarian morphology	5295	PIK3R1	OMIM:269880
HP:0031065	Abnormal ovarian morphology	4913	NTHL1	ORPHA:454840
HP:0031065	Abnormal ovarian morphology	55503	TRPV6	OMIM:618188
HP:0031065	Abnormal ovarian morphology	2155	F7	ORPHA:327
HP:0031065	Abnormal ovarian morphology	2778	GNAS	ORPHA:562
HP:0031065	Abnormal ovarian morphology	6899	TBX1	OMIM:188400
HP:0031065	Abnormal ovarian morphology	3972	LHB	OMIM:228300
HP:0031065	Abnormal ovarian morphology	8481	OFD1	OMIM:311200
HP:0031065	Abnormal ovarian morphology	7840	ALMS1	ORPHA:64
HP:0031065	Abnormal ovarian morphology	6658	SOX3	ORPHA:393
HP:0031065	Abnormal ovarian morphology	26580	BSCL2	OMIM:269700
HP:0031065	Abnormal ovarian morphology	26580	BSCL2	ORPHA:528
HP:0031065	Abnormal ovarian morphology	3991	LIPE	ORPHA:435660
HP:0031065	Abnormal ovarian morphology	4519	MT-CYB	ORPHA:137675
HP:0031065	Abnormal ovarian morphology	2321	FLT1	ORPHA:275555
HP:0031065	Abnormal ovarian morphology	219736	STOX1	ORPHA:275555
HP:0031065	Abnormal ovarian morphology	10699	CORIN	ORPHA:275555
HP:0031065	Abnormal ovarian morphology	6804	STX1A	ORPHA:904
HP:0031065	Abnormal ovarian morphology	7461	CLIP2	ORPHA:904
HP:0031065	Abnormal ovarian morphology	84277	DNAJC30	ORPHA:904
HP:0031065	Abnormal ovarian morphology	8468	FKBP6	ORPHA:904
HP:0031065	Abnormal ovarian morphology	5982	RFC2	ORPHA:904
HP:0031065	Abnormal ovarian morphology	2969	GTF2I	ORPHA:904
HP:0031065	Abnormal ovarian morphology	3984	LIMK1	ORPHA:904
HP:0031065	Abnormal ovarian morphology	9569	GTF2IRD1	ORPHA:904
HP:0031065	Abnormal ovarian morphology	155382	VPS37D	ORPHA:904
HP:0031065	Abnormal ovarian morphology	155368	METTL27	ORPHA:904
HP:0031065	Abnormal ovarian morphology	114049	BUD23	ORPHA:904
HP:0031065	Abnormal ovarian morphology	7458	EIF4H	ORPHA:904
HP:0031065	Abnormal ovarian morphology	84163	GTF2IRD2	ORPHA:904
HP:0031065	Abnormal ovarian morphology	9275	BCL7B	ORPHA:904
HP:0031065	Abnormal ovarian morphology	26608	TBL2	ORPHA:904
HP:0031065	Abnormal ovarian morphology	653361	NCF1	ORPHA:904
HP:0031065	Abnormal ovarian morphology	135886	TMEM270	ORPHA:904
HP:0031065	Abnormal ovarian morphology	51085	MLXIPL	ORPHA:904
HP:0031065	Abnormal ovarian morphology	9031	BAZ1B	ORPHA:904
HP:0031065	Abnormal ovarian morphology	2006	ELN	ORPHA:904
HP:0031065	Abnormal ovarian morphology	118429	ANTXR2	ORPHA:2176
HP:0031065	Abnormal ovarian morphology	472	ATM	ORPHA:100
HP:0031065	Abnormal ovarian morphology	5346	PLIN1	ORPHA:280356
HP:0031065	Abnormal ovarian morphology	5468	PPARG	OMIM:604367
HP:0031065	Abnormal ovarian morphology	5468	PPARG	ORPHA:79083
HP:0031065	Abnormal ovarian morphology	5468	PPARG	ORPHA:528
HP:0031065	Abnormal ovarian morphology	63924	CIDEC	ORPHA:435651
HP:0031065	Abnormal ovarian morphology	6927	HNF1A	OMIM:142330
HP:0031065	Abnormal ovarian morphology	2542	SLC37A4	ORPHA:79259
HP:0031065	Abnormal ovarian morphology	1584	CYP11B1	ORPHA:90795
HP:0031065	Abnormal ovarian morphology	4000	LMNA	ORPHA:280365
HP:0031065	Abnormal ovarian morphology	4000	LMNA	ORPHA:79084
HP:0031065	Abnormal ovarian morphology	4000	LMNA	OMIM:151660
HP:0031065	Abnormal ovarian morphology	4000	LMNA	ORPHA:2229
HP:0031065	Abnormal ovarian morphology	4000	LMNA	ORPHA:2348
HP:0031065	Abnormal ovarian morphology	208	AKT2	ORPHA:79085
HP:0031065	Abnormal ovarian morphology	5257	PHKB	ORPHA:79240
HP:0031065	Abnormal ovarian morphology	10555	AGPAT2	ORPHA:528
HP:0031065	Abnormal ovarian morphology	10555	AGPAT2	OMIM:608594
HP:0031065	Abnormal ovarian morphology	284119	CAVIN1	ORPHA:528
HP:0031065	Abnormal ovarian morphology	2353	FOS	ORPHA:528
HP:0031065	Abnormal ovarian morphology	857	CAV1	ORPHA:528
HP:0031065	Abnormal ovarian morphology	4313	MMP2	ORPHA:371428
HP:0031065	Abnormal ovarian morphology	4323	MMP14	ORPHA:371428
HP:0031065	Abnormal ovarian morphology	1761	DMRT1	ORPHA:242
HP:0031065	Abnormal ovarian morphology	84733	CBX2	ORPHA:242
HP:0031065	Abnormal ovarian morphology	5256	PHKA2	ORPHA:264580
HP:0031065	Abnormal ovarian morphology	5261	PHKG2	ORPHA:264580
HP:0031065	Abnormal ovarian morphology	24145	PANX1	ORPHA:488191
HP:0031065	Abnormal ovarian morphology	494551	WEE2	ORPHA:488191
HP:0031065	Abnormal ovarian morphology	197135	PATL2	ORPHA:488191
HP:0031065	Abnormal ovarian morphology	347688	TUBB8	ORPHA:488191
HP:0031065	Abnormal ovarian morphology	84823	LMNB2	OMIM:608709
HP:0031065	Abnormal ovarian morphology	29072	SETD2	OMIM:616831
HP:0031065	Abnormal ovarian morphology	4487	MSX1	ORPHA:2228
HP:0031065	Abnormal ovarian morphology	1528	CYB5A	ORPHA:90796
HP:0031065	Abnormal ovarian morphology	1586	CYP17A1	ORPHA:90796
HP:0031065	Abnormal ovarian morphology	2099	ESR1	ORPHA:785
HP:0031065	Abnormal ovarian morphology	10483	SEC23B	ORPHA:201
HP:0031065	Abnormal ovarian morphology	5728	PTEN	ORPHA:201
HP:0031065	Abnormal ovarian morphology	5728	PTEN	ORPHA:744
HP:0031065	Abnormal ovarian morphology	6390	SDHB	ORPHA:201
HP:0031065	Abnormal ovarian morphology	6392	SDHD	ORPHA:201
HP:0031065	Abnormal ovarian morphology	6391	SDHC	ORPHA:201
HP:0031065	Abnormal ovarian morphology	207	AKT1	ORPHA:201
HP:0031065	Abnormal ovarian morphology	207	AKT1	ORPHA:744
HP:0031065	Abnormal ovarian morphology	205717	USF3	ORPHA:201
HP:0031065	Abnormal ovarian morphology	100144748	KLLN	ORPHA:201
HP:0031065	Abnormal ovarian morphology	6794	STK11	ORPHA:2869
HP:0031065	Abnormal ovarian morphology	1588	CYP19A1	ORPHA:91
HP:0031065	Abnormal ovarian morphology	79796	ALG9	ORPHA:79328
HP:0031065	Abnormal ovarian morphology	2260	FGFR1	ORPHA:432
HP:0031065	Abnormal ovarian morphology	81848	SPRY4	ORPHA:432
HP:0031065	Abnormal ovarian morphology	128674	PROKR2	ORPHA:432
HP:0031065	Abnormal ovarian morphology	2253	FGF8	ORPHA:432
HP:0031065	Abnormal ovarian morphology	60675	PROK2	ORPHA:432
HP:0031065	Abnormal ovarian morphology	55636	CHD7	ORPHA:432
HP:0031065	Abnormal ovarian morphology	6870	TACR3	ORPHA:432
HP:0031065	Abnormal ovarian morphology	1848	DUSP6	ORPHA:432
HP:0031065	Abnormal ovarian morphology	26012	NSMF	ORPHA:432
HP:0031065	Abnormal ovarian morphology	55717	WDR11	ORPHA:432
HP:0031065	Abnormal ovarian morphology	9394	HS6ST1	ORPHA:432
HP:0031065	Abnormal ovarian morphology	2796	GNRH1	ORPHA:432
HP:0031065	Abnormal ovarian morphology	2796	GNRH1	OMIM:614841
HP:0031065	Abnormal ovarian morphology	2798	GNRHR	ORPHA:432
HP:0031065	Abnormal ovarian morphology	84634	KISS1R	ORPHA:432
HP:0031065	Abnormal ovarian morphology	6866	TAC3	ORPHA:432
HP:0031065	Abnormal ovarian morphology	8822	FGF17	ORPHA:432
HP:0031065	Abnormal ovarian morphology	3814	KISS1	ORPHA:432
HP:0031065	Abnormal ovarian morphology	92482	BBIP1	ORPHA:110
HP:0031065	Abnormal ovarian morphology	80184	CEP290	ORPHA:110
HP:0031065	Abnormal ovarian morphology	11020	IFT27	ORPHA:110
HP:0031065	Abnormal ovarian morphology	582	BBS1	ORPHA:110
HP:0031065	Abnormal ovarian morphology	49855	SCAPER	ORPHA:110
HP:0031065	Abnormal ovarian morphology	4867	NPHP1	ORPHA:110
HP:0031065	Abnormal ovarian morphology	51057	WDPCP	ORPHA:110
HP:0031065	Abnormal ovarian morphology	27241	BBS9	ORPHA:110
HP:0031065	Abnormal ovarian morphology	84984	CEP19	ORPHA:110
HP:0031065	Abnormal ovarian morphology	22954	TRIM32	ORPHA:110
HP:0031065	Abnormal ovarian morphology	54903	MKS1	ORPHA:110
HP:0031065	Abnormal ovarian morphology	79738	BBS10	ORPHA:110
HP:0031065	Abnormal ovarian morphology	123016	TTC8	ORPHA:110
HP:0031065	Abnormal ovarian morphology	26160	IFT172	ORPHA:110
HP:0031065	Abnormal ovarian morphology	583	BBS2	ORPHA:110
HP:0031065	Abnormal ovarian morphology	585	BBS4	ORPHA:110
HP:0031065	Abnormal ovarian morphology	8195	MKKS	ORPHA:110
HP:0031065	Abnormal ovarian morphology	54585	LZTFL1	ORPHA:110
HP:0031065	Abnormal ovarian morphology	55212	BBS7	ORPHA:110
HP:0031065	Abnormal ovarian morphology	166379	BBS12	ORPHA:110
HP:0031065	Abnormal ovarian morphology	10806	SDCCAG8	ORPHA:110
HP:0031065	Abnormal ovarian morphology	157657	CFAP418	ORPHA:110
HP:0031065	Abnormal ovarian morphology	84100	ARL6	ORPHA:110
HP:0031065	Abnormal ovarian morphology	129880	BBS5	ORPHA:110
HP:0031065	Abnormal ovarian morphology	80173	IFT74	ORPHA:110
HP:0031065	Abnormal ovarian morphology	317761	C14orf39	OMIM:619203
HP:0031065	Abnormal ovarian morphology	79625	NDNF	OMIM:618841
HP:0031065	Abnormal ovarian morphology	8882	ZPR1	OMIM:619321
HP:0031065	Abnormal ovarian morphology	23395	LARS2	OMIM:615300
HP:0031065	Abnormal ovarian morphology	164045	HFM1	OMIM:615724
HP:0031065	Abnormal ovarian morphology	84515	MCM8	OMIM:612885
HP:0031065	Abnormal ovarian morphology	3953	LEPR	ORPHA:179494
HP:0031065	Abnormal ovarian morphology	3952	LEP	ORPHA:66628
HP:0031065	Abnormal ovarian morphology	367	AR	ORPHA:90797
HP:0031065	Abnormal ovarian morphology	5373	PMM2	ORPHA:79318
HP:0031065	Abnormal ovarian morphology	8626	TP63	ORPHA:69085
HP:0031065	Abnormal ovarian morphology	5781	PTPN11	OMIM:151100
HP:0031065	Abnormal ovarian morphology	29893	PSMC3IP	ORPHA:243
HP:0031065	Abnormal ovarian morphology	171568	POLR3H	ORPHA:243
HP:0031065	Abnormal ovarian morphology	2516	NR5A1	ORPHA:243
HP:0031065	Abnormal ovarian morphology	2516	NR5A1	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	125150	ZSWIM7	ORPHA:243
HP:0031065	Abnormal ovarian morphology	125150	ZSWIM7	OMIM:619834
HP:0031065	Abnormal ovarian morphology	9210	BMP15	ORPHA:243
HP:0031065	Abnormal ovarian morphology	9210	BMP15	OMIM:300510
HP:0031065	Abnormal ovarian morphology	57122	NUP107	ORPHA:243
HP:0031065	Abnormal ovarian morphology	23514	SPIDR	ORPHA:243
HP:0031065	Abnormal ovarian morphology	2492	FSHR	ORPHA:243
HP:0031065	Abnormal ovarian morphology	56945	MRPS22	ORPHA:243
HP:0031065	Abnormal ovarian morphology	646	BNC1	ORPHA:243
HP:0031065	Abnormal ovarian morphology	26284	ERAL1	OMIM:617565
HP:0031065	Abnormal ovarian morphology	344018	FIGLA	OMIM:612310
HP:0031065	Abnormal ovarian morphology	6736	SRY	ORPHA:1772
HP:0031065	Abnormal ovarian morphology	6736	SRY	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	4659	PPP1R12A	OMIM:618820
HP:0031065	Abnormal ovarian morphology	8192	CLPP	OMIM:614129
HP:0031065	Abnormal ovarian morphology	6662	SOX9	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	6845	VAMP7	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	51741	WWOX	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	4214	MAP3K1	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	7490	WT1	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	7490	WT1	OMIM:194072
HP:0031065	Abnormal ovarian morphology	7490	WT1	ORPHA:347
HP:0031065	Abnormal ovarian morphology	58524	DMRT3	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	57647	DHX37	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	23414	ZFPM2	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	190	NR0B1	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	2626	GATA4	ORPHA:251510
HP:0031065	Abnormal ovarian morphology	10734	STAG3	OMIM:615723
HP:0031065	Abnormal ovarian morphology	23438	HARS2	OMIM:614926
HP:0031065	Abnormal ovarian morphology	80067	DCAF17	ORPHA:3464
HP:0031065	Abnormal ovarian morphology	135935	NOBOX	OMIM:611548
HP:0031065	Abnormal ovarian morphology	5080	PAX6	OMIM:194072
HP:0031065	Abnormal ovarian morphology	26040	SETBP1	ORPHA:798
HP:0031065	Abnormal ovarian morphology	668	FOXL2	ORPHA:572333
HP:0031065	Abnormal ovarian morphology	50846	DHH	OMIM:233420
HP:0031065	Abnormal ovarian morphology	50846	DHH	ORPHA:168563
HP:0031065	Abnormal ovarian morphology	5618	PRLR	ORPHA:397685
HP:0031065	Abnormal ovarian morphology	5290	PIK3CA	ORPHA:276280
HP:0031065	Abnormal ovarian morphology	4437	MSH3	ORPHA:480536
HP:0031065	Abnormal ovarian morphology	5573	PRKAR1A	ORPHA:1359
HP:0031065	Abnormal ovarian morphology	50940	PDE11A	ORPHA:1359
HP:0031065	Abnormal ovarian morphology	5447	POR	ORPHA:95699
HP:0031065	Abnormal ovarian morphology	4281	MID1	ORPHA:2745
HP:0031065	Abnormal ovarian morphology	3643	INSR	ORPHA:508
HP:0031065	Abnormal ovarian morphology	3643	INSR	ORPHA:769
HP:0031066	Abnormal ovarian physiology	64072	CDH23	ORPHA:91347
HP:0031066	Abnormal ovarian physiology	64072	CDH23	ORPHA:2965
HP:0031066	Abnormal ovarian physiology	4221	MEN1	ORPHA:2965
HP:0031066	Abnormal ovarian physiology	9049	AIP	ORPHA:2965
HP:0031066	Abnormal ovarian physiology	10269	ZMPSTE24	ORPHA:740
HP:0031066	Abnormal ovarian physiology	2260	FGFR1	ORPHA:432
HP:0031066	Abnormal ovarian physiology	81848	SPRY4	ORPHA:432
HP:0031066	Abnormal ovarian physiology	128674	PROKR2	ORPHA:432
HP:0031066	Abnormal ovarian physiology	2253	FGF8	ORPHA:432
HP:0031066	Abnormal ovarian physiology	60675	PROK2	ORPHA:432
HP:0031066	Abnormal ovarian physiology	55636	CHD7	ORPHA:432
HP:0031066	Abnormal ovarian physiology	6870	TACR3	ORPHA:432
HP:0031066	Abnormal ovarian physiology	1848	DUSP6	ORPHA:432
HP:0031066	Abnormal ovarian physiology	26012	NSMF	ORPHA:432
HP:0031066	Abnormal ovarian physiology	55717	WDR11	ORPHA:432
HP:0031066	Abnormal ovarian physiology	9394	HS6ST1	ORPHA:432
HP:0031066	Abnormal ovarian physiology	2796	GNRH1	ORPHA:432
HP:0031066	Abnormal ovarian physiology	2798	GNRHR	ORPHA:432
HP:0031066	Abnormal ovarian physiology	84634	KISS1R	ORPHA:432
HP:0031066	Abnormal ovarian physiology	6866	TAC3	ORPHA:432
HP:0031066	Abnormal ovarian physiology	8822	FGF17	ORPHA:432
HP:0031066	Abnormal ovarian physiology	3814	KISS1	ORPHA:432
HP:0031066	Abnormal ovarian physiology	472	ATM	OMIM:208900
HP:0031066	Abnormal ovarian physiology	652	BMP4	OMIM:607932
HP:0031066	Abnormal ovarian physiology	2488	FSHB	ORPHA:52901
HP:0031066	Abnormal ovarian physiology	5618	PRLR	ORPHA:397685
HP:0031066	Abnormal ovarian physiology	668	FOXL2	OMIM:110100
HP:0031066	Abnormal ovarian physiology	668	FOXL2	ORPHA:572333
HP:0031066	Abnormal ovarian physiology	668	FOXL2	OMIM:608996
HP:0031066	Abnormal ovarian physiology	355	FAS	ORPHA:3261
HP:0031066	Abnormal ovarian physiology	356	FASLG	ORPHA:3261
HP:0031066	Abnormal ovarian physiology	5580	PRKCD	ORPHA:3261
HP:0031066	Abnormal ovarian physiology	843	CASP10	ORPHA:3261
HP:0031066	Abnormal ovarian physiology	10125	RASGRP1	ORPHA:3261
HP:0031066	Abnormal ovarian physiology	55213	RCBTB1	OMIM:617175
HP:0031066	Abnormal ovarian physiology	1730	DIAPH2	OMIM:300511
HP:0031066	Abnormal ovarian physiology	9210	BMP15	OMIM:300510
HP:0031066	Abnormal ovarian physiology	9210	BMP15	ORPHA:243
HP:0031066	Abnormal ovarian physiology	4683	NBN	OMIM:251260
HP:0031066	Abnormal ovarian physiology	9453	GGPS1	OMIM:619518
HP:0031066	Abnormal ovarian physiology	84515	MCM8	OMIM:612885
HP:0031066	Abnormal ovarian physiology	2592	GALT	OMIM:230400
HP:0031066	Abnormal ovarian physiology	2592	GALT	ORPHA:79239
HP:0031066	Abnormal ovarian physiology	2516	NR5A1	OMIM:612964
HP:0031066	Abnormal ovarian physiology	2516	NR5A1	ORPHA:243
HP:0031066	Abnormal ovarian physiology	125150	ZSWIM7	OMIM:619834
HP:0031066	Abnormal ovarian physiology	125150	ZSWIM7	ORPHA:243
HP:0031066	Abnormal ovarian physiology	64682	ANAPC1	OMIM:618625
HP:0031066	Abnormal ovarian physiology	64682	ANAPC1	ORPHA:221008
HP:0031066	Abnormal ovarian physiology	80067	DCAF17	ORPHA:3464
HP:0031066	Abnormal ovarian physiology	80067	DCAF17	OMIM:241080
HP:0031066	Abnormal ovarian physiology	84570	COL25A1	ORPHA:91411
HP:0031066	Abnormal ovarian physiology	79776	ZFHX4	ORPHA:91411
HP:0031066	Abnormal ovarian physiology	79228	THOC6	ORPHA:363444
HP:0031066	Abnormal ovarian physiology	79228	THOC6	OMIM:613680
HP:0031066	Abnormal ovarian physiology	11077	HSF2BP	OMIM:619245
HP:0031066	Abnormal ovarian physiology	54453	RIN2	ORPHA:217335
HP:0031066	Abnormal ovarian physiology	317761	C14orf39	OMIM:619203
HP:0031066	Abnormal ovarian physiology	79983	POF1B	OMIM:300604
HP:0031066	Abnormal ovarian physiology	2332	FMR1	OMIM:311360
HP:0031066	Abnormal ovarian physiology	2332	FMR1	ORPHA:261483
HP:0031066	Abnormal ovarian physiology	2332	FMR1	OMIM:300623
HP:0031066	Abnormal ovarian physiology	57505	AARS2	OMIM:615889
HP:0031066	Abnormal ovarian physiology	164045	HFM1	OMIM:615724
HP:0031066	Abnormal ovarian physiology	10734	STAG3	OMIM:615723
HP:0031066	Abnormal ovarian physiology	11261	CHP1	OMIM:618438
HP:0031066	Abnormal ovarian physiology	8888	MCM3AP	OMIM:618124
HP:0031066	Abnormal ovarian physiology	326	AIRE	OMIM:240300
HP:0031066	Abnormal ovarian physiology	51434	ANAPC7	OMIM:619699
HP:0031066	Abnormal ovarian physiology	646	BNC1	OMIM:618723
HP:0031066	Abnormal ovarian physiology	646	BNC1	ORPHA:243
HP:0031066	Abnormal ovarian physiology	2072	ERCC4	OMIM:610965
HP:0031066	Abnormal ovarian physiology	55750	AGK	OMIM:212350
HP:0031066	Abnormal ovarian physiology	56652	TWNK	OMIM:609286
HP:0031066	Abnormal ovarian physiology	1967	EIF2B1	OMIM:603896
HP:0031066	Abnormal ovarian physiology	29893	PSMC3IP	ORPHA:243
HP:0031066	Abnormal ovarian physiology	171568	POLR3H	ORPHA:243
HP:0031066	Abnormal ovarian physiology	57122	NUP107	ORPHA:243
HP:0031066	Abnormal ovarian physiology	23514	SPIDR	ORPHA:243
HP:0031066	Abnormal ovarian physiology	23514	SPIDR	OMIM:619665
HP:0031066	Abnormal ovarian physiology	2492	FSHR	ORPHA:243
HP:0031066	Abnormal ovarian physiology	56945	MRPS22	ORPHA:243
HP:0031066	Abnormal ovarian physiology	641	BLM	ORPHA:125
HP:0031066	Abnormal ovarian physiology	2583	B4GALNT1	ORPHA:101006
HP:0031066	Abnormal ovarian physiology	5428	POLG	OMIM:157640
HP:0031066	Abnormal ovarian physiology	7516	XRCC2	OMIM:619146
HP:0031066	Abnormal ovarian physiology	26284	ERAL1	OMIM:617565
HP:0031066	Abnormal ovarian physiology	23395	LARS2	OMIM:615300
HP:0031066	Abnormal ovarian physiology	344018	FIGLA	OMIM:612310
HP:0031066	Abnormal ovarian physiology	11232	POLG2	OMIM:619425
HP:0031066	Abnormal ovarian physiology	4000	LMNA	ORPHA:79474
HP:0031066	Abnormal ovarian physiology	26146	TRAF3IP1	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	9657	IQCB1	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	10806	SDCCAG8	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	27130	INVS	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	80184	CEP290	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	4867	NPHP1	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	261734	NPHP4	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	57728	WDR19	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	27031	NPHP3	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	22897	CEP164	ORPHA:3156
HP:0031066	Abnormal ovarian physiology	135935	NOBOX	OMIM:611548
HP:0031066	Abnormal ovarian physiology	5373	PMM2	OMIM:212065
HP:0031066	Abnormal ovarian physiology	2584	GALK1	ORPHA:79237
HP:0031066	Abnormal ovarian physiology	80185	TTI2	ORPHA:391307
HP:0031069	Abnormal femoral torsion	60	ACTB	ORPHA:79107
HP:0031069	Abnormal femoral torsion	60	ACTB	OMIM:607371
HP:0031069	Abnormal femoral torsion	10491	CRTAP	OMIM:610682
HP:0031069	Abnormal femoral torsion	5297	PI4KA	OMIM:616531
HP:0031069	Abnormal femoral torsion	64175	P3H1	OMIM:610915
HP:0031069	Abnormal femoral torsion	26128	KIFBP	OMIM:609460
HP:0031069	Abnormal femoral torsion	1836	SLC26A2	ORPHA:56304
HP:0031069	Abnormal femoral torsion	8567	MADD	OMIM:619005
HP:0031069	Abnormal femoral torsion	9158	FIBP	ORPHA:500095
HP:0100168	Fragmented epiphyses	1311	COMP	OMIM:177170
HP:0100168	Fragmented epiphyses	1297	COL9A1	ORPHA:166002
HP:0100168	Fragmented epiphyses	1298	COL9A2	ORPHA:166002
HP:0100168	Fragmented epiphyses	1299	COL9A3	ORPHA:166002
HP:0100168	Fragmented epiphyses	3835	KIF22	ORPHA:93360
HP:0005180	Tricuspid regurgitation	5337	PLD1	OMIM:212093
HP:0005180	Tricuspid regurgitation	7092	TLL1	ORPHA:99103
HP:0005180	Tricuspid regurgitation	7092	TLL1	ORPHA:99106
HP:0005180	Tricuspid regurgitation	57057	TBX20	ORPHA:99103
HP:0005180	Tricuspid regurgitation	4624	MYH6	ORPHA:99103
HP:0005180	Tricuspid regurgitation	1482	NKX2-5	ORPHA:99103
HP:0005180	Tricuspid regurgitation	70	ACTC1	ORPHA:99103
HP:0005180	Tricuspid regurgitation	10370	CITED2	ORPHA:99103
HP:0005180	Tricuspid regurgitation	10370	CITED2	ORPHA:99105
HP:0005180	Tricuspid regurgitation	2626	GATA4	ORPHA:99103
HP:0005180	Tricuspid regurgitation	2627	GATA6	ORPHA:99103
HP:0005180	Tricuspid regurgitation	10112	KIF20A	OMIM:619433
HP:0005180	Tricuspid regurgitation	10112	KIF20A	ORPHA:75249
HP:0005180	Tricuspid regurgitation	6331	SCN5A	OMIM:614022
HP:0005180	Tricuspid regurgitation	54892	NCAPG2	OMIM:618460
HP:0005180	Tricuspid regurgitation	4750	NEK1	OMIM:263520
HP:0005180	Tricuspid regurgitation	29957	SLC25A24	OMIM:612289
HP:0005180	Tricuspid regurgitation	5828	PEX2	OMIM:614866
HP:0005180	Tricuspid regurgitation	1788	DNMT3A	OMIM:615879
HP:0005180	Tricuspid regurgitation	1788	DNMT3A	ORPHA:404443
HP:0005180	Tricuspid regurgitation	2316	FLNA	OMIM:314400
HP:0005180	Tricuspid regurgitation	2316	FLNA	ORPHA:555877
HP:0005180	Tricuspid regurgitation	79770	TXNDC15	OMIM:619879
HP:0005180	Tricuspid regurgitation	3032	HADHB	ORPHA:746
HP:0005180	Tricuspid regurgitation	3030	HADHA	ORPHA:746
HP:0005180	Tricuspid regurgitation	84665	MYPN	ORPHA:75249
HP:0005180	Tricuspid regurgitation	2318	FLNC	ORPHA:75249
HP:0005180	Tricuspid regurgitation	7139	TNNT2	ORPHA:75249
HP:0005180	Tricuspid regurgitation	7137	TNNI3	ORPHA:75249
HP:0005180	Tricuspid regurgitation	171019	ADAMTS19	OMIM:620067
HP:0005180	Tricuspid regurgitation	2200	FBN1	ORPHA:284979
HP:0005180	Tricuspid regurgitation	2200	FBN1	OMIM:154700
HP:0005180	Tricuspid regurgitation	83475	DOHH	OMIM:620066
HP:0005180	Tricuspid regurgitation	411	ARSB	OMIM:253200
HP:0005180	Tricuspid regurgitation	79796	ALG9	ORPHA:79328
HP:0005180	Tricuspid regurgitation	114803	MYSM1	ORPHA:508542
HP:0005180	Tricuspid regurgitation	113189	CHST14	OMIM:601776
HP:0005180	Tricuspid regurgitation	23118	TAB2	ORPHA:228410
HP:0005180	Tricuspid regurgitation	1278	COL1A2	ORPHA:230851
HP:0005180	Tricuspid regurgitation	10651	MTX2	OMIM:619127
HP:0005180	Tricuspid regurgitation	1857	DVL3	OMIM:616894
HP:0005180	Tricuspid regurgitation	368	ABCC6	OMIM:614473
HP:0005180	Tricuspid regurgitation	55790	CSGALNACT1	OMIM:618870
HP:0005180	Tricuspid regurgitation	6392	SDHD	OMIM:619167
HP:0005180	Tricuspid regurgitation	6392	SDHD	ORPHA:100093
HP:0005180	Tricuspid regurgitation	5500	PPP1CB	OMIM:617506
HP:0005180	Tricuspid regurgitation	4625	MYH7	OMIM:613426
HP:0005180	Tricuspid regurgitation	55033	FKBP14	OMIM:614557
HP:0005180	Tricuspid regurgitation	6901	TAFAZZIN	OMIM:302060
HP:0005180	Tricuspid regurgitation	5573	PRKAR1A	ORPHA:615
HP:0005180	Tricuspid regurgitation	10551	AGR2	OMIM:620233
HP:0005180	Tricuspid regurgitation	7125	TNNC2	OMIM:620161
HP:0005180	Tricuspid regurgitation	1340	COX6B1	OMIM:619051
HP:0005180	Tricuspid regurgitation	6123	RPL3L	OMIM:619371
HP:0005180	Tricuspid regurgitation	4841	NONO	ORPHA:466791
HP:0005180	Tricuspid regurgitation	65082	VPS33A	ORPHA:505248
HP:0005180	Tricuspid regurgitation	56915	EXOSC5	OMIM:619576
HP:0005180	Tricuspid regurgitation	79989	IFT56	OMIM:619534
HP:0005180	Tricuspid regurgitation	442721	LMOD2	OMIM:619897
HP:0005180	Tricuspid regurgitation	537	ATP6AP1	OMIM:300972
HP:0005180	Tricuspid regurgitation	9469	CHST3	OMIM:143095
HP:0005180	Tricuspid regurgitation	54567	DLL4	OMIM:616589
HP:0005180	Tricuspid regurgitation	388753	COA6	OMIM:616501
HP:0005180	Tricuspid regurgitation	5885	RAD21	OMIM:611376
HP:0005180	Tricuspid regurgitation	84100	ARL6	OMIM:600151
HP:0005180	Tricuspid regurgitation	1000	CDH2	OMIM:618929
HP:0005180	Tricuspid regurgitation	54539	NDUFB11	ORPHA:2556
HP:0005180	Tricuspid regurgitation	1349	COX7B	ORPHA:2556
HP:0005180	Tricuspid regurgitation	3052	HCCS	ORPHA:2556
HP:0005180	Tricuspid regurgitation	6045	RNF2	OMIM:619460
HP:0005180	Tricuspid regurgitation	57538	ALPK3	OMIM:618052
HP:0005180	Tricuspid regurgitation	1616	DAXX	ORPHA:100075
HP:0005180	Tricuspid regurgitation	546	ATRX	ORPHA:100075
HP:0005180	Tricuspid regurgitation	22884	WDR37	OMIM:618652
HP:0005180	Tricuspid regurgitation	1193	CLIC2	ORPHA:324410
HP:0005180	Tricuspid regurgitation	341208	HEPHL1	OMIM:261990
HP:0005180	Tricuspid regurgitation	96459	FNIP1	OMIM:619705
HP:0005180	Tricuspid regurgitation	529	ATP6V1E1	OMIM:617402
HP:0005180	Tricuspid regurgitation	1954	MEGF8	OMIM:614976
HP:0001644	Dilated cardiomyopathy	291	SLC25A4	ORPHA:254892
HP:0001644	Dilated cardiomyopathy	5428	POLG	ORPHA:254892
HP:0001644	Dilated cardiomyopathy	5428	POLG	ORPHA:70595
HP:0001644	Dilated cardiomyopathy	5428	POLG	OMIM:607459
HP:0001644	Dilated cardiomyopathy	56652	TWNK	ORPHA:254892
HP:0001644	Dilated cardiomyopathy	56652	TWNK	ORPHA:70595
HP:0001644	Dilated cardiomyopathy	56652	TWNK	OMIM:607459
HP:0001644	Dilated cardiomyopathy	11232	POLG2	ORPHA:254892
HP:0001644	Dilated cardiomyopathy	50484	RRM2B	ORPHA:254892
HP:0001644	Dilated cardiomyopathy	3155	HMGCL	ORPHA:20
HP:0001644	Dilated cardiomyopathy	2218	FKTN	ORPHA:272
HP:0001644	Dilated cardiomyopathy	2218	FKTN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	2218	FKTN	OMIM:611615
HP:0001644	Dilated cardiomyopathy	2218	FKTN	OMIM:253800
HP:0001644	Dilated cardiomyopathy	9015	TAF1A	ORPHA:154
HP:0001644	Dilated cardiomyopathy	5663	PSEN1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	5663	PSEN1	OMIM:613694
HP:0001644	Dilated cardiomyopathy	6389	SDHA	ORPHA:154
HP:0001644	Dilated cardiomyopathy	6389	SDHA	OMIM:613642
HP:0001644	Dilated cardiomyopathy	6389	SDHA	OMIM:252011
HP:0001644	Dilated cardiomyopathy	7112	TMPO	ORPHA:154
HP:0001644	Dilated cardiomyopathy	9464	HAND2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4625	MYH7	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4625	MYH7	ORPHA:59135
HP:0001644	Dilated cardiomyopathy	4625	MYH7	OMIM:160500
HP:0001644	Dilated cardiomyopathy	4625	MYH7	OMIM:255160
HP:0001644	Dilated cardiomyopathy	4625	MYH7	OMIM:613426
HP:0001644	Dilated cardiomyopathy	88	ACTN2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	88	ACTN2	OMIM:612158
HP:0001644	Dilated cardiomyopathy	10486	CAP2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	10060	ABCC9	ORPHA:154
HP:0001644	Dilated cardiomyopathy	10060	ABCC9	OMIM:608569
HP:0001644	Dilated cardiomyopathy	7168	TPM1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7168	TPM1	OMIM:611878
HP:0001644	Dilated cardiomyopathy	7414	VCL	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7414	VCL	OMIM:611407
HP:0001644	Dilated cardiomyopathy	1832	DSP	ORPHA:154
HP:0001644	Dilated cardiomyopathy	1832	DSP	OMIM:615821
HP:0001644	Dilated cardiomyopathy	1832	DSP	OMIM:605676
HP:0001644	Dilated cardiomyopathy	1832	DSP	ORPHA:65282
HP:0001644	Dilated cardiomyopathy	70	ACTC1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	70	ACTC1	OMIM:613424
HP:0001644	Dilated cardiomyopathy	27063	ANKRD1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	8048	CSRP3	ORPHA:154
HP:0001644	Dilated cardiomyopathy	8048	CSRP3	OMIM:607482
HP:0001644	Dilated cardiomyopathy	1410	CRYAB	ORPHA:154
HP:0001644	Dilated cardiomyopathy	1410	CRYAB	OMIM:615184
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:300751
HP:0001644	Dilated cardiomyopathy	4000	LMNA	OMIM:181350
HP:0001644	Dilated cardiomyopathy	4000	LMNA	OMIM:212112
HP:0001644	Dilated cardiomyopathy	4000	LMNA	OMIM:610140
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:168796
HP:0001644	Dilated cardiomyopathy	4000	LMNA	OMIM:115200
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:98855
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:2229
HP:0001644	Dilated cardiomyopathy	4000	LMNA	ORPHA:98853
HP:0001644	Dilated cardiomyopathy	7139	TNNT2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7139	TNNT2	OMIM:601494
HP:0001644	Dilated cardiomyopathy	1829	DSG2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	1829	DSG2	OMIM:612877
HP:0001644	Dilated cardiomyopathy	3910	LAMA4	ORPHA:154
HP:0001644	Dilated cardiomyopathy	3910	LAMA4	OMIM:615235
HP:0001644	Dilated cardiomyopathy	63976	PRDM16	ORPHA:154
HP:0001644	Dilated cardiomyopathy	63976	PRDM16	OMIM:615373
HP:0001644	Dilated cardiomyopathy	63976	PRDM16	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	7273	TTN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7273	TTN	OMIM:604145
HP:0001644	Dilated cardiomyopathy	7273	TTN	OMIM:611705
HP:0001644	Dilated cardiomyopathy	10587	TXNRD2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	9531	BAG3	ORPHA:154
HP:0001644	Dilated cardiomyopathy	9531	BAG3	OMIM:613881
HP:0001644	Dilated cardiomyopathy	5350	PLN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	5350	PLN	OMIM:609909
HP:0001644	Dilated cardiomyopathy	91624	NEXN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	91624	NEXN	OMIM:613122
HP:0001644	Dilated cardiomyopathy	79717	PPCS	ORPHA:154
HP:0001644	Dilated cardiomyopathy	79717	PPCS	OMIM:618189
HP:0001644	Dilated cardiomyopathy	5664	PSEN2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	5664	PSEN2	OMIM:613697
HP:0001644	Dilated cardiomyopathy	4624	MYH6	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4624	MYH6	OMIM:613252
HP:0001644	Dilated cardiomyopathy	9529	BAG5	ORPHA:154
HP:0001644	Dilated cardiomyopathy	9529	BAG5	OMIM:619747
HP:0001644	Dilated cardiomyopathy	4607	MYBPC3	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4607	MYBPC3	OMIM:615396
HP:0001644	Dilated cardiomyopathy	282996	RBM20	ORPHA:154
HP:0001644	Dilated cardiomyopathy	282996	RBM20	OMIM:613172
HP:0001644	Dilated cardiomyopathy	7137	TNNI3	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7137	TNNI3	OMIM:611880
HP:0001644	Dilated cardiomyopathy	7137	TNNI3	OMIM:613286
HP:0001644	Dilated cardiomyopathy	11155	LDB3	ORPHA:154
HP:0001644	Dilated cardiomyopathy	11155	LDB3	OMIM:601493
HP:0001644	Dilated cardiomyopathy	2274	FHL2	ORPHA:154
HP:0001644	Dilated cardiomyopathy	6901	TAFAZZIN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	6901	TAFAZZIN	ORPHA:111
HP:0001644	Dilated cardiomyopathy	6901	TAFAZZIN	OMIM:302060
HP:0001644	Dilated cardiomyopathy	22845	DOLK	ORPHA:154
HP:0001644	Dilated cardiomyopathy	22845	DOLK	ORPHA:91131
HP:0001644	Dilated cardiomyopathy	22845	DOLK	OMIM:610768
HP:0001644	Dilated cardiomyopathy	5894	RAF1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	5894	RAF1	OMIM:615916
HP:0001644	Dilated cardiomyopathy	1756	DMD	ORPHA:154
HP:0001644	Dilated cardiomyopathy	1756	DMD	OMIM:310200
HP:0001644	Dilated cardiomyopathy	1756	DMD	OMIM:302045
HP:0001644	Dilated cardiomyopathy	1756	DMD	ORPHA:206546
HP:0001644	Dilated cardiomyopathy	57798	GATAD1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	57798	GATAD1	OMIM:614672
HP:0001644	Dilated cardiomyopathy	7134	TNNC1	ORPHA:154
HP:0001644	Dilated cardiomyopathy	7134	TNNC1	OMIM:611879
HP:0001644	Dilated cardiomyopathy	84665	MYPN	ORPHA:154
HP:0001644	Dilated cardiomyopathy	84665	MYPN	OMIM:615248
HP:0001644	Dilated cardiomyopathy	1674	DES	ORPHA:154
HP:0001644	Dilated cardiomyopathy	1674	DES	OMIM:604765
HP:0001644	Dilated cardiomyopathy	1674	DES	OMIM:601419
HP:0001644	Dilated cardiomyopathy	6444	SGCD	ORPHA:154
HP:0001644	Dilated cardiomyopathy	6444	SGCD	OMIM:606685
HP:0001644	Dilated cardiomyopathy	6331	SCN5A	ORPHA:154
HP:0001644	Dilated cardiomyopathy	6331	SCN5A	OMIM:601154
HP:0001644	Dilated cardiomyopathy	8557	TCAP	ORPHA:154
HP:0001644	Dilated cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4578	MT-TW	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4540	MT-ND5	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4541	MT-ND6	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4535	MT-ND1	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4538	MT-ND4	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4567	MT-TL1	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0001644	Dilated cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0001644	Dilated cardiomyopathy	2070	EYA4	ORPHA:217622
HP:0001644	Dilated cardiomyopathy	2070	EYA4	OMIM:605362
HP:0001644	Dilated cardiomyopathy	3033	HADH	OMIM:231530
HP:0001644	Dilated cardiomyopathy	3033	HADH	ORPHA:71212
HP:0001644	Dilated cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0001644	Dilated cardiomyopathy	57122	NUP107	OMIM:618348
HP:0001644	Dilated cardiomyopathy	57122	NUP107	OMIM:616730
HP:0001644	Dilated cardiomyopathy	148738	HJV	OMIM:602390
HP:0001644	Dilated cardiomyopathy	148738	HJV	ORPHA:79230
HP:0001644	Dilated cardiomyopathy	10102	TSFM	OMIM:610505
HP:0001644	Dilated cardiomyopathy	6442	SGCA	OMIM:608099
HP:0001644	Dilated cardiomyopathy	3909	LAMA3	ORPHA:79404
HP:0001644	Dilated cardiomyopathy	3918	LAMC2	ORPHA:79404
HP:0001644	Dilated cardiomyopathy	3914	LAMB3	ORPHA:79404
HP:0001644	Dilated cardiomyopathy	1120	CHKB	OMIM:602541
HP:0001644	Dilated cardiomyopathy	4536	MT-ND2	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4537	MT-ND3	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4577	MT-TV	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4508	MT-ATP6	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4566	MT-TK	ORPHA:255210
HP:0001644	Dilated cardiomyopathy	4566	MT-TK	ORPHA:1349
HP:0001644	Dilated cardiomyopathy	4312	MMP1	ORPHA:79408
HP:0001644	Dilated cardiomyopathy	1294	COL7A1	ORPHA:79408
HP:0001644	Dilated cardiomyopathy	1294	COL7A1	ORPHA:89842
HP:0001644	Dilated cardiomyopathy	197131	UBR1	OMIM:243800
HP:0001644	Dilated cardiomyopathy	3728	JUP	OMIM:601214
HP:0001644	Dilated cardiomyopathy	92667	MGME1	OMIM:615084
HP:0001644	Dilated cardiomyopathy	92667	MGME1	ORPHA:352447
HP:0001644	Dilated cardiomyopathy	55182	RNF220	OMIM:619688
HP:0001644	Dilated cardiomyopathy	1376	CPT2	OMIM:600649
HP:0001644	Dilated cardiomyopathy	1376	CPT2	OMIM:608836
HP:0001644	Dilated cardiomyopathy	27034	ACAD8	OMIM:611283
HP:0001644	Dilated cardiomyopathy	27034	ACAD8	ORPHA:79159
HP:0001644	Dilated cardiomyopathy	6392	SDHD	OMIM:619167
HP:0001644	Dilated cardiomyopathy	131118	DNAJC19	OMIM:610198
HP:0001644	Dilated cardiomyopathy	131118	DNAJC19	ORPHA:66634
HP:0001644	Dilated cardiomyopathy	6443	SGCB	OMIM:604286
HP:0001644	Dilated cardiomyopathy	7015	TERT	OMIM:613989
HP:0001644	Dilated cardiomyopathy	3920	LAMP2	ORPHA:34587
HP:0001644	Dilated cardiomyopathy	3920	LAMP2	OMIM:300257
HP:0001644	Dilated cardiomyopathy	54344	DPM3	OMIM:612937
HP:0001644	Dilated cardiomyopathy	54344	DPM3	ORPHA:263494
HP:0001644	Dilated cardiomyopathy	79147	FKRP	OMIM:607155
HP:0001644	Dilated cardiomyopathy	79147	FKRP	ORPHA:34515
HP:0001644	Dilated cardiomyopathy	58528	RRAGD	OMIM:620152
HP:0001644	Dilated cardiomyopathy	513	ATP5F1D	OMIM:618120
HP:0001644	Dilated cardiomyopathy	50619	DEF6	OMIM:619573
HP:0001644	Dilated cardiomyopathy	26007	TKFC	OMIM:618805
HP:0001644	Dilated cardiomyopathy	10616	RBCK1	OMIM:615895
HP:0001644	Dilated cardiomyopathy	79184	BRCC3	ORPHA:280679
HP:0001644	Dilated cardiomyopathy	4210	MEFV	ORPHA:3243
HP:0001644	Dilated cardiomyopathy	4210	MEFV	OMIM:608068
HP:0001644	Dilated cardiomyopathy	7840	ALMS1	OMIM:203800
HP:0001644	Dilated cardiomyopathy	7840	ALMS1	ORPHA:64
HP:0001644	Dilated cardiomyopathy	29967	LRP12	OMIM:164310
HP:0001644	Dilated cardiomyopathy	54539	NDUFB11	ORPHA:2556
HP:0001644	Dilated cardiomyopathy	54539	NDUFB11	OMIM:300952
HP:0001644	Dilated cardiomyopathy	1349	COX7B	ORPHA:2556
HP:0001644	Dilated cardiomyopathy	3052	HCCS	ORPHA:2556
HP:0001644	Dilated cardiomyopathy	23522	KAT6B	OMIM:603736
HP:0001644	Dilated cardiomyopathy	7156	TOP3A	OMIM:618097
HP:0001644	Dilated cardiomyopathy	5167	ENPP1	OMIM:208000
HP:0001644	Dilated cardiomyopathy	84705	GTPBP3	OMIM:616198
HP:0001644	Dilated cardiomyopathy	7170	TPM3	OMIM:255310
HP:0001644	Dilated cardiomyopathy	51086	TNNI3K	OMIM:616117
HP:0001644	Dilated cardiomyopathy	8884	SLC5A6	OMIM:619903
HP:0001644	Dilated cardiomyopathy	388962	BOLA3	OMIM:614299
HP:0001644	Dilated cardiomyopathy	23230	VPS13A	ORPHA:2388
HP:0001644	Dilated cardiomyopathy	57817	HAMP	ORPHA:79230
HP:0001644	Dilated cardiomyopathy	28976	ACAD9	ORPHA:99901
HP:0001644	Dilated cardiomyopathy	28976	ACAD9	OMIM:611126
HP:0001644	Dilated cardiomyopathy	3043	HBB	ORPHA:231214
HP:0001644	Dilated cardiomyopathy	3043	HBB	ORPHA:231226
HP:0001644	Dilated cardiomyopathy	10290	SPEG	OMIM:615959
HP:0001644	Dilated cardiomyopathy	5590	PRKCZ	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	2563	GABRD	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	23013	SPEN	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	8510	MMP23B	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	7798	LUZP1	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	6497	SKI	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	10630	PDPN	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	3339	HSPG2	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	10277	UBE4B	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	8514	KCNAB2	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	473	RERE	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	54897	CASZ1	ORPHA:1606
HP:0001644	Dilated cardiomyopathy	81031	SLC2A10	ORPHA:3342
HP:0001644	Dilated cardiomyopathy	6262	RYR2	OMIM:604772
HP:0001644	Dilated cardiomyopathy	845	CASQ2	OMIM:604772
HP:0001644	Dilated cardiomyopathy	10345	TRDN	OMIM:604772
HP:0001644	Dilated cardiomyopathy	58	ACTA1	OMIM:161800
HP:0001644	Dilated cardiomyopathy	25915	NDUFAF3	ORPHA:70474
HP:0001644	Dilated cardiomyopathy	4714	NDUFB8	ORPHA:70474
HP:0001644	Dilated cardiomyopathy	4720	NDUFS2	ORPHA:70474
HP:0001644	Dilated cardiomyopathy	9997	SCO2	ORPHA:70474
HP:0001644	Dilated cardiomyopathy	6834	SURF1	ORPHA:70474
HP:0001644	Dilated cardiomyopathy	111	ADCY5	OMIM:606703
HP:0001644	Dilated cardiomyopathy	111	ADCY5	ORPHA:324588
HP:0001644	Dilated cardiomyopathy	7504	XK	OMIM:300842
HP:0001644	Dilated cardiomyopathy	29123	ANKRD11	ORPHA:261250
HP:0001644	Dilated cardiomyopathy	51816	ADA2	OMIM:615688
HP:0001644	Dilated cardiomyopathy	2273	FHL1	OMIM:300718
HP:0001644	Dilated cardiomyopathy	3030	HADHA	OMIM:609015
HP:0001644	Dilated cardiomyopathy	2065	ERBB3	OMIM:607598
HP:0001644	Dilated cardiomyopathy	57158	JPH2	OMIM:619492
HP:0001644	Dilated cardiomyopathy	6123	RPL3L	OMIM:619371
HP:0001644	Dilated cardiomyopathy	57724	EPG5	OMIM:242840
HP:0001644	Dilated cardiomyopathy	55739	NAXD	OMIM:618321
HP:0001644	Dilated cardiomyopathy	442721	LMOD2	OMIM:619897
HP:0001644	Dilated cardiomyopathy	7518	XRCC4	OMIM:616541
HP:0001644	Dilated cardiomyopathy	2720	GLB1	OMIM:230500
HP:0001644	Dilated cardiomyopathy	5236	PGM1	OMIM:614921
HP:0001644	Dilated cardiomyopathy	25974	MMACHC	ORPHA:79282
HP:0001644	Dilated cardiomyopathy	140628	GATA5	OMIM:617912
HP:0001644	Dilated cardiomyopathy	7716	VEZF1	OMIM:620247
HP:0001644	Dilated cardiomyopathy	6533	SLC6A6	OMIM:145350
HP:0001644	Dilated cardiomyopathy	55679	LIMS2	OMIM:616827
HP:0001644	Dilated cardiomyopathy	29954	POMT2	ORPHA:206559
HP:0001644	Dilated cardiomyopathy	37	ACADVL	ORPHA:26793
HP:0001644	Dilated cardiomyopathy	4633	MYL2	OMIM:619424
HP:0001644	Dilated cardiomyopathy	583	BBS2	OMIM:615981
HP:0001644	Dilated cardiomyopathy	3762	KCNJ5	ORPHA:37553
HP:0001644	Dilated cardiomyopathy	3759	KCNJ2	ORPHA:37553
HP:0001644	Dilated cardiomyopathy	79188	TMEM43	ORPHA:98853
HP:0001644	Dilated cardiomyopathy	23345	SYNE1	ORPHA:98853
HP:0001644	Dilated cardiomyopathy	23224	SYNE2	ORPHA:98853
HP:0011675	Arrhythmia	1374	CPT1A	ORPHA:156
HP:0011675	Arrhythmia	26191	PTPN22	ORPHA:397
HP:0011675	Arrhythmia	3106	HLA-B	ORPHA:397
HP:0011675	Arrhythmia	3106	HLA-B	ORPHA:36426
HP:0011675	Arrhythmia	3123	HLA-DRB1	ORPHA:397
HP:0011675	Arrhythmia	8974	P4HA2	ORPHA:397
HP:0011675	Arrhythmia	282996	RBM20	OMIM:613172
HP:0011675	Arrhythmia	7168	TPM1	OMIM:115196
HP:0011675	Arrhythmia	3753	KCNE1	OMIM:613695
HP:0011675	Arrhythmia	3753	KCNE1	ORPHA:101016
HP:0011675	Arrhythmia	3753	KCNE1	OMIM:612347
HP:0011675	Arrhythmia	4625	MYH7	ORPHA:1880
HP:0011675	Arrhythmia	4625	MYH7	OMIM:613426
HP:0011675	Arrhythmia	6804	STX1A	ORPHA:904
HP:0011675	Arrhythmia	7461	CLIP2	ORPHA:904
HP:0011675	Arrhythmia	84277	DNAJC30	ORPHA:904
HP:0011675	Arrhythmia	8468	FKBP6	ORPHA:904
HP:0011675	Arrhythmia	5982	RFC2	ORPHA:904
HP:0011675	Arrhythmia	2969	GTF2I	ORPHA:904
HP:0011675	Arrhythmia	3984	LIMK1	ORPHA:904
HP:0011675	Arrhythmia	9569	GTF2IRD1	ORPHA:904
HP:0011675	Arrhythmia	155382	VPS37D	ORPHA:904
HP:0011675	Arrhythmia	155368	METTL27	ORPHA:904
HP:0011675	Arrhythmia	114049	BUD23	ORPHA:904
HP:0011675	Arrhythmia	7458	EIF4H	ORPHA:904
HP:0011675	Arrhythmia	84163	GTF2IRD2	ORPHA:904
HP:0011675	Arrhythmia	9275	BCL7B	ORPHA:904
HP:0011675	Arrhythmia	26608	TBL2	ORPHA:904
HP:0011675	Arrhythmia	653361	NCF1	ORPHA:904
HP:0011675	Arrhythmia	135886	TMEM270	ORPHA:904
HP:0011675	Arrhythmia	51085	MLXIPL	ORPHA:904
HP:0011675	Arrhythmia	9031	BAZ1B	ORPHA:904
HP:0011675	Arrhythmia	2006	ELN	ORPHA:904
HP:0011675	Arrhythmia	7454	WAS	ORPHA:906
HP:0011675	Arrhythmia	7456	WIPF1	ORPHA:906
HP:0011675	Arrhythmia	7134	TNNC1	OMIM:611879
HP:0011675	Arrhythmia	7043	TGFB3	OMIM:107970
HP:0011675	Arrhythmia	4040	LRP6	OMIM:610947
HP:0011675	Arrhythmia	5728	PTEN	ORPHA:744
HP:0011675	Arrhythmia	207	AKT1	ORPHA:744
HP:0011675	Arrhythmia	80206	FHOD3	OMIM:619402
HP:0011675	Arrhythmia	27068	PPA2	OMIM:617222
HP:0011675	Arrhythmia	287	ANK2	OMIM:600919
HP:0011675	Arrhythmia	287	ANK2	ORPHA:101016
HP:0011675	Arrhythmia	131118	DNAJC19	OMIM:610198
HP:0011675	Arrhythmia	11155	LDB3	OMIM:601493
HP:0011675	Arrhythmia	26154	ABCA12	ORPHA:457
HP:0011675	Arrhythmia	7139	TNNT2	OMIM:601494
HP:0011675	Arrhythmia	3949	LDLR	ORPHA:391665
HP:0011675	Arrhythmia	255738	PCSK9	ORPHA:391665
HP:0011675	Arrhythmia	26119	LDLRAP1	ORPHA:391665
HP:0011675	Arrhythmia	338	APOB	ORPHA:391665
HP:0011675	Arrhythmia	64240	ABCG5	ORPHA:391665
HP:0011675	Arrhythmia	64241	ABCG8	ORPHA:391665
HP:0011675	Arrhythmia	9722	NOS1AP	ORPHA:101016
HP:0011675	Arrhythmia	6330	SCN4B	ORPHA:101016
HP:0011675	Arrhythmia	6330	SCN4B	OMIM:611819
HP:0011675	Arrhythmia	808	CALM3	ORPHA:101016
HP:0011675	Arrhythmia	808	CALM3	ORPHA:3286
HP:0011675	Arrhythmia	6640	SNTA1	ORPHA:101016
HP:0011675	Arrhythmia	10320	IKZF1	ORPHA:36426
HP:0011675	Arrhythmia	7137	TNNI3	OMIM:115210
HP:0011675	Arrhythmia	9631	NUP155	OMIM:615770
HP:0011675	Arrhythmia	1674	DES	ORPHA:98909
HP:0011675	Arrhythmia	2273	FHL1	ORPHA:98863
HP:0011675	Arrhythmia	23529	CLCF1	ORPHA:1545
HP:0011675	Arrhythmia	9244	CRLF1	ORPHA:1545
HP:0011675	Arrhythmia	2070	EYA4	OMIM:605362
HP:0011675	Arrhythmia	2771	GNAI2	OMIM:192605
HP:0011675	Arrhythmia	2318	FLNC	OMIM:617047
HP:0011675	Arrhythmia	221496	LEMD2	OMIM:212500
HP:0011675	Arrhythmia	5167	ENPP1	ORPHA:758
HP:0011675	Arrhythmia	368	ABCC6	ORPHA:758
HP:0011675	Arrhythmia	28976	ACAD9	ORPHA:99901
HP:0011675	Arrhythmia	1804	DPP6	OMIM:612956
HP:0011675	Arrhythmia	6444	SGCD	OMIM:606685
HP:0011675	Arrhythmia	7273	TTN	OMIM:611705
HP:0011675	Arrhythmia	1832	DSP	OMIM:607450
HP:0011675	Arrhythmia	23345	SYNE1	ORPHA:98853
HP:0011675	Arrhythmia	23224	SYNE2	ORPHA:98853
HP:0011675	Arrhythmia	8518	ELP1	OMIM:223900
HP:0011675	Arrhythmia	8518	ELP1	ORPHA:1764
HP:0011675	Arrhythmia	2328	FMO3	OMIM:602079
HP:0011675	Arrhythmia	137814	NKX2-6	ORPHA:3384
HP:0011675	Arrhythmia	23129	PLXND1	ORPHA:3384
HP:0011675	Arrhythmia	6390	SDHB	OMIM:115310
HP:0011675	Arrhythmia	6390	SDHB	OMIM:171300
HP:0011675	Arrhythmia	55654	TMEM127	OMIM:171300
HP:0011675	Arrhythmia	5979	RET	OMIM:171300
HP:0011675	Arrhythmia	6392	SDHD	OMIM:171300
HP:0011675	Arrhythmia	6392	SDHD	OMIM:168000
HP:0011675	Arrhythmia	4149	MAX	OMIM:171300
HP:0011675	Arrhythmia	7428	VHL	OMIM:171300
HP:0011675	Arrhythmia	4519	MT-CYB	ORPHA:137675
HP:0011675	Arrhythmia	171023	ASXL1	ORPHA:98849
HP:0011675	Arrhythmia	54790	TET2	ORPHA:98849
HP:0011675	Arrhythmia	3815	KIT	ORPHA:98849
HP:0011675	Arrhythmia	6427	SRSF2	ORPHA:98849
HP:0011675	Arrhythmia	6335	SCN9A	OMIM:167400
HP:0011675	Arrhythmia	3759	KCNJ2	OMIM:609622
HP:0011675	Arrhythmia	2203	FBP1	ORPHA:348
HP:0011675	Arrhythmia	2203	FBP1	OMIM:229700
HP:0011675	Arrhythmia	7555	CNBP	OMIM:602668
HP:0011675	Arrhythmia	374879	ZNF699	OMIM:619488
HP:0011675	Arrhythmia	779	CACNA1S	OMIM:188580
HP:0011675	Arrhythmia	779	CACNA1S	OMIM:601887
HP:0011675	Arrhythmia	5498	PPOX	OMIM:176200
HP:0011675	Arrhythmia	5498	PPOX	ORPHA:79473
HP:0011675	Arrhythmia	3077	HFE	OMIM:176200
HP:0011675	Arrhythmia	3145	HMBS	OMIM:176000
HP:0011675	Arrhythmia	3145	HMBS	ORPHA:79276
HP:0011675	Arrhythmia	6833	ABCC8	ORPHA:276575
HP:0011675	Arrhythmia	6261	RYR1	OMIM:145600
HP:0011675	Arrhythmia	6391	SDHC	OMIM:605373
HP:0011675	Arrhythmia	745	MYRF	OMIM:618280
HP:0011675	Arrhythmia	3767	KCNJ11	ORPHA:276580
HP:0011675	Arrhythmia	8029	CUBN	ORPHA:35858
HP:0011675	Arrhythmia	81693	AMN	ORPHA:35858
HP:0011675	Arrhythmia	65082	VPS33A	ORPHA:505248
HP:0011675	Arrhythmia	1439	CSF2RB	ORPHA:264675
HP:0011675	Arrhythmia	1438	CSF2RA	ORPHA:264675
HP:0011675	Arrhythmia	55739	NAXD	OMIM:618321
HP:0011675	Arrhythmia	442721	LMOD2	OMIM:619897
HP:0011675	Arrhythmia	9692	PRORP	OMIM:619737
HP:0011675	Arrhythmia	1889	ECE1	OMIM:613870
HP:0011675	Arrhythmia	100134444	KCNJ18	OMIM:613239
HP:0011675	Arrhythmia	1371	CPOX	OMIM:121300
HP:0011675	Arrhythmia	1371	CPOX	ORPHA:79273
HP:0011675	Arrhythmia	5837	PYGM	ORPHA:368
HP:0011675	Arrhythmia	37	ACADVL	ORPHA:26793
HP:0011675	Arrhythmia	3172	HNF4A	ORPHA:263455
HP:0011675	Arrhythmia	6927	HNF1A	ORPHA:324575
HP:0011675	Arrhythmia	667	DST	OMIM:614653
HP:0011675	Arrhythmia	7253	TSHR	OMIM:609152
HP:0011675	Arrhythmia	7253	TSHR	OMIM:603373
HP:0011675	Arrhythmia	6736	SRY	ORPHA:1772
HP:0011675	Arrhythmia	284119	CAVIN1	OMIM:613327
HP:0011675	Arrhythmia	7351	UCP2	ORPHA:276556
HP:0011675	Arrhythmia	8942	KYNU	ORPHA:79155
HP:0011675	Arrhythmia	6005	RHAG	ORPHA:71275
HP:0011675	Arrhythmia	6006	RHCE	ORPHA:71275
HP:0011675	Arrhythmia	6007	RHD	ORPHA:71275
HP:0011675	Arrhythmia	4702	NDUFA8	OMIM:619272
HP:0011675	Arrhythmia	10681	GNB5	OMIM:617173
HP:0011675	Arrhythmia	10681	GNB5	OMIM:617182
HP:0011675	Arrhythmia	10681	GNB5	ORPHA:542306
HP:0011675	Arrhythmia	151648	SGO1	OMIM:616201
HP:0011675	Arrhythmia	5626	PROP1	ORPHA:226307
HP:0011675	Arrhythmia	89884	LHX4	ORPHA:226307
HP:0011675	Arrhythmia	8022	LHX3	ORPHA:226307
HP:0011675	Arrhythmia	5449	POU1F1	ORPHA:226307
HP:0011675	Arrhythmia	8820	HESX1	ORPHA:226307
HP:0011675	Arrhythmia	25821	MTO1	OMIM:614702
HP:0011675	Arrhythmia	3909	LAMA3	ORPHA:79404
HP:0011675	Arrhythmia	3918	LAMC2	ORPHA:79404
HP:0011675	Arrhythmia	3914	LAMB3	ORPHA:79404
HP:0011675	Arrhythmia	7849	PAX8	OMIM:218700
HP:0011675	Arrhythmia	6341	SCO1	OMIM:619048
HP:0011675	Arrhythmia	51601	LIPT1	OMIM:616299
HP:0011675	Arrhythmia	30008	EFEMP2	OMIM:614437
HP:0011675	Arrhythmia	7252	TSHB	ORPHA:90674
HP:0011675	Arrhythmia	95	ACY1	OMIM:609924
HP:0011675	Arrhythmia	11274	USP18	OMIM:617397
HP:0011675	Arrhythmia	2902	GRIN1	OMIM:619814
HP:0011675	Arrhythmia	405753	DUOXA2	ORPHA:95716
HP:0011675	Arrhythmia	6528	SLC5A5	ORPHA:95716
HP:0011675	Arrhythmia	7038	TG	ORPHA:95716
HP:0011675	Arrhythmia	7173	TPO	ORPHA:95716
HP:0011675	Arrhythmia	389434	IYD	ORPHA:95716
HP:0011675	Arrhythmia	50506	DUOX2	ORPHA:95716
HP:0011675	Arrhythmia	1201	CLN3	ORPHA:228346
HP:0011675	Arrhythmia	22845	DOLK	OMIM:610768
HP:0011675	Arrhythmia	7386	UQCRFS1	OMIM:618775
HP:0011675	Arrhythmia	1892	ECHS1	OMIM:616277
HP:0011675	Arrhythmia	132158	GLYCTK	OMIM:220120
HP:0011675	Arrhythmia	51117	COQ4	OMIM:616276
HP:0011675	Arrhythmia	57017	COQ9	OMIM:614654
HP:0011675	Arrhythmia	27429	HTRA2	OMIM:617248
HP:0011675	Arrhythmia	221927	BRAT1	OMIM:614498
HP:0011675	Arrhythmia	2752	GLUL	OMIM:610015
HP:0011675	Arrhythmia	1717	DHCR7	OMIM:270400
HP:0011675	Arrhythmia	283446	MYO1H	OMIM:619482
HP:0011675	Arrhythmia	341208	HEPHL1	OMIM:261990
HP:0011675	Arrhythmia	84340	GFM2	OMIM:618397
HP:0011675	Arrhythmia	7276	TTR	ORPHA:85451
HP:0011675	Arrhythmia	4878	NPPA	OMIM:615745
HP:0011675	Arrhythmia	2010	EMD	OMIM:310300
HP:0011675	Arrhythmia	3920	LAMP2	OMIM:300257
HP:0011675	Arrhythmia	10370	CITED2	ORPHA:99105
HP:0011675	Arrhythmia	7259	TSPYL1	ORPHA:168593
HP:0011675	Arrhythmia	6331	SCN5A	OMIM:601144
HP:0011675	Arrhythmia	6331	SCN5A	ORPHA:130
HP:0011675	Arrhythmia	9997	SCO2	OMIM:604377
HP:0011675	Arrhythmia	23630	KCNE5	ORPHA:130
HP:0011675	Arrhythmia	10371	SEMA3A	ORPHA:130
HP:0011675	Arrhythmia	54795	TRPM4	ORPHA:130
HP:0011675	Arrhythmia	10021	HCN4	ORPHA:130
HP:0011675	Arrhythmia	10021	HCN4	OMIM:163800
HP:0011675	Arrhythmia	3764	KCNJ8	ORPHA:130
HP:0011675	Arrhythmia	3752	KCND3	ORPHA:130
HP:0011675	Arrhythmia	5318	PKP2	ORPHA:130
HP:0011675	Arrhythmia	5318	PKP2	OMIM:609040
HP:0011675	Arrhythmia	7871	SLMAP	ORPHA:130
HP:0011675	Arrhythmia	10060	ABCC9	ORPHA:130
HP:0011675	Arrhythmia	29098	RANGRF	ORPHA:130
HP:0011675	Arrhythmia	6336	SCN10A	ORPHA:130
HP:0011675	Arrhythmia	10008	KCNE3	ORPHA:130
HP:0011675	Arrhythmia	10008	KCNE3	OMIM:613119
HP:0011675	Arrhythmia	55800	SCN3B	ORPHA:130
HP:0011675	Arrhythmia	10142	AKAP9	ORPHA:130
HP:0011675	Arrhythmia	783	CACNB2	ORPHA:130
HP:0011675	Arrhythmia	6337	SCNN1A	ORPHA:130
HP:0011675	Arrhythmia	6327	SCN2B	ORPHA:130
HP:0011675	Arrhythmia	781	CACNA2D1	ORPHA:130
HP:0011675	Arrhythmia	775	CACNA1C	ORPHA:130
HP:0011675	Arrhythmia	6324	SCN1B	ORPHA:130
HP:0011675	Arrhythmia	23171	GPD1L	ORPHA:130
HP:0011675	Arrhythmia	3155	HMGCL	ORPHA:20
HP:0011675	Arrhythmia	4607	MYBPC3	OMIM:115197
HP:0011675	Arrhythmia	79989	IFT56	OMIM:619534
HP:0011675	Arrhythmia	9992	KCNE2	OMIM:613693
HP:0011675	Arrhythmia	54539	NDUFB11	OMIM:300952
HP:0011675	Arrhythmia	253017	TECRL	OMIM:614021
HP:0011675	Arrhythmia	805	CALM2	OMIM:616249
HP:0011675	Arrhythmia	1861	TOR1A	OMIM:618947
HP:0011675	Arrhythmia	801	CALM1	OMIM:616247
HP:0011675	Arrhythmia	801	CALM1	OMIM:614916
HP:0011675	Arrhythmia	788	SLC25A20	OMIM:212138
HP:0011675	Arrhythmia	708	C1QBP	OMIM:617713
HP:0011675	Arrhythmia	81031	SLC2A10	ORPHA:3342
HP:0011675	Arrhythmia	3757	KCNH2	OMIM:609620
HP:0011675	Arrhythmia	3757	KCNH2	OMIM:613688
HP:0011675	Arrhythmia	4634	MYL3	OMIM:608751
HP:0011675	Arrhythmia	54675	CRLS1	OMIM:620167
HP:0011675	Arrhythmia	55750	AGK	OMIM:212350
HP:0011675	Arrhythmia	859	CAV3	OMIM:611818
HP:0011675	Arrhythmia	57538	ALPK3	OMIM:618052
HP:0011675	Arrhythmia	2629	GBA1	ORPHA:77260
HP:0011675	Arrhythmia	4695	NDUFA2	OMIM:618235
HP:0011675	Arrhythmia	6182	MRPL12	OMIM:618951
HP:0011675	Arrhythmia	10345	TRDN	OMIM:615441
HP:0011675	Arrhythmia	70	ACTC1	OMIM:612098
HP:0011675	Arrhythmia	7046	TGFBR1	ORPHA:60030
HP:0011675	Arrhythmia	10526	IPO8	ORPHA:60030
HP:0011675	Arrhythmia	7048	TGFBR2	ORPHA:60030
HP:0011675	Arrhythmia	3762	KCNJ5	OMIM:613485
HP:0011675	Arrhythmia	144245	ALG10B	OMIM:613688
HP:0011675	Arrhythmia	88	ACTN2	OMIM:612158
HP:0011675	Arrhythmia	10560	SLC19A2	ORPHA:49827
HP:0011675	Arrhythmia	128989	TANGO2	OMIM:616878
HP:0011675	Arrhythmia	25782	RAB3GAP2	OMIM:212720
HP:0011675	Arrhythmia	6440	SFTPC	ORPHA:70587
HP:0011675	Arrhythmia	21	ABCA3	ORPHA:70587
HP:0011675	Arrhythmia	6439	SFTPB	ORPHA:70587
HP:0011675	Arrhythmia	6508	SLC4A3	OMIM:620231
HP:0011675	Arrhythmia	4564	MT-TH	ORPHA:550
HP:0011675	Arrhythmia	51103	NDUFAF1	OMIM:618234
HP:0011675	Arrhythmia	63931	MRPS14	OMIM:618378
HP:0011675	Arrhythmia	3714	JAG2	OMIM:619566
HP:0011675	Arrhythmia	7249	TSC2	OMIM:613254
HP:0011675	Arrhythmia	3458	IFNG	OMIM:613254
HP:0011675	Arrhythmia	96459	FNIP1	OMIM:619705
HP:0011675	Arrhythmia	7248	TSC1	OMIM:191100
HP:0011675	Arrhythmia	123263	MTFMT	OMIM:614947
HP:0011675	Arrhythmia	8557	TCAP	OMIM:607487
HP:0011675	Arrhythmia	291	SLC25A4	ORPHA:254892
HP:0011675	Arrhythmia	5428	POLG	ORPHA:254892
HP:0011675	Arrhythmia	56652	TWNK	ORPHA:254892
HP:0011675	Arrhythmia	11232	POLG2	ORPHA:254892
HP:0011675	Arrhythmia	50484	RRM2B	ORPHA:254892
HP:0011675	Arrhythmia	3741	KCNA5	OMIM:612240
HP:0011675	Arrhythmia	1837	DTNA	OMIM:604169
HP:0011675	Arrhythmia	3728	JUP	OMIM:601214
HP:0011675	Arrhythmia	57104	PNPLA2	ORPHA:565612
HP:0011675	Arrhythmia	1829	DSG2	OMIM:610193
HP:0011675	Arrhythmia	1824	DSC2	OMIM:610476
HP:0011675	Arrhythmia	4633	MYL2	OMIM:608758
HP:0011675	Arrhythmia	2642	GCGR	OMIM:619290
HP:0011675	Arrhythmia	57158	JPH2	OMIM:613873
HP:0011675	Arrhythmia	1000	CDH2	OMIM:618920
HP:0011675	Arrhythmia	1788	DNMT3A	ORPHA:276621
HP:0011675	Arrhythmia	2034	EPAS1	ORPHA:276621
HP:0011675	Arrhythmia	84133	ZNRF3	ORPHA:1501
HP:0011675	Arrhythmia	7157	TP53	ORPHA:1501
HP:0011675	Arrhythmia	5573	PRKAR1A	ORPHA:1501
HP:0011675	Arrhythmia	1499	CTNNB1	ORPHA:1501
HP:0011675	Arrhythmia	1029	CDKN2A	ORPHA:1501
HP:0011675	Arrhythmia	7015	TERT	ORPHA:1501
HP:0011675	Arrhythmia	55863	TMEM126B	OMIM:618250
HP:0011675	Arrhythmia	4635	MYL4	OMIM:617280
HP:0011675	Arrhythmia	2992	GYG1	ORPHA:263297
HP:0011675	Arrhythmia	64072	CDH23	ORPHA:91347
HP:0011675	Arrhythmia	3784	KCNQ1	ORPHA:51083
HP:0011675	Arrhythmia	7092	TLL1	ORPHA:99106
HP:0011675	Arrhythmia	7092	TLL1	ORPHA:99103
HP:0011675	Arrhythmia	57057	TBX20	ORPHA:99103
HP:0011675	Arrhythmia	4624	MYH6	ORPHA:99103
HP:0011675	Arrhythmia	1482	NKX2-5	ORPHA:99103
HP:0011675	Arrhythmia	2626	GATA4	ORPHA:99103
HP:0011675	Arrhythmia	2627	GATA6	ORPHA:99103
HP:0011675	Arrhythmia	1743	DLST	ORPHA:29072
HP:0011675	Arrhythmia	4191	MDH2	ORPHA:29072
HP:0011675	Arrhythmia	6389	SDHA	ORPHA:29072
HP:0011675	Arrhythmia	23095	KIF1B	ORPHA:29072
HP:0011675	Arrhythmia	2271	FH	ORPHA:29072
HP:0011675	Arrhythmia	8402	SLC25A11	ORPHA:29072
HP:0011675	Arrhythmia	54949	SDHAF2	ORPHA:29072
HP:0011675	Arrhythmia	4763	NF1	ORPHA:29072
HP:0011675	Arrhythmia	4221	MEN1	ORPHA:97279
HP:0011675	Arrhythmia	7528	YY1	ORPHA:97279
HP:0011675	Arrhythmia	171019	ADAMTS19	OMIM:620067
HP:0011675	Arrhythmia	2556	GABRA3	ORPHA:79102
HP:0011675	Arrhythmia	79188	TMEM43	OMIM:604400
HP:0011675	Arrhythmia	11149	BVES	OMIM:616812
HP:0011675	Arrhythmia	54800	KLHL24	OMIM:620236
HP:0011675	Arrhythmia	595	CCND1	ORPHA:892
HP:0011675	Arrhythmia	51778	MYOZ2	OMIM:613838
HP:0011675	Arrhythmia	23479	ISCU	OMIM:255125
HP:0011675	Arrhythmia	1616	DAXX	ORPHA:100075
HP:0011675	Arrhythmia	546	ATRX	ORPHA:100075
HP:0011675	Arrhythmia	6559	SLC12A3	OMIM:263800
HP:0011675	Arrhythmia	6559	SLC12A3	ORPHA:358
HP:0011675	Arrhythmia	1188	CLCNKB	ORPHA:358
HP:0011675	Arrhythmia	1193	CLIC2	ORPHA:324410
HP:0011675	Arrhythmia	3777	KCNK3	OMIM:615344
HP:0011675	Arrhythmia	284252	KCTD1	OMIM:181270
HP:0011675	Arrhythmia	80308	FLAD1	OMIM:255100
HP:0011675	Arrhythmia	8260	NAA10	OMIM:300855
HP:0011675	Arrhythmia	29119	CTNNA3	OMIM:615616
HP:0011675	Arrhythmia	1410	CRYAB	OMIM:615184
HP:0011675	Arrhythmia	1376	CPT2	OMIM:600649
HP:0011675	Arrhythmia	9529	BAG5	OMIM:619747
HP:0011675	Arrhythmia	56244	BTNL2	ORPHA:797
HP:0011675	Arrhythmia	2702	GJA5	OMIM:108770
HP:0011675	Arrhythmia	6910	TBX5	ORPHA:392
HP:0011675	Arrhythmia	2783	GNB2	OMIM:619464
HP:0011675	Arrhythmia	8048	CSRP3	OMIM:612124
HP:0011675	Arrhythmia	5350	PLN	OMIM:613874
HP:0011675	Arrhythmia	4000	LMNA	OMIM:613205
HP:0011675	Arrhythmia	29967	LRP12	OMIM:164310
HP:0011675	Arrhythmia	845	CASQ2	OMIM:604772
HP:0011675	Arrhythmia	650	BMP2	OMIM:617877
HP:0011675	Arrhythmia	51086	TNNI3K	OMIM:616117
HP:0011675	Arrhythmia	4088	SMAD3	ORPHA:284984
HP:0011675	Arrhythmia	4088	SMAD3	OMIM:613795
HP:0011675	Arrhythmia	23118	TAB2	OMIM:614980
HP:0011675	Arrhythmia	8076	MFAP5	OMIM:616166
HP:0011675	Arrhythmia	5664	PSEN2	OMIM:613697
HP:0011675	Arrhythmia	7504	XK	OMIM:300842
HP:0011675	Arrhythmia	57798	GATAD1	OMIM:614672
HP:0011675	Arrhythmia	1760	DMPK	OMIM:160900
HP:0011675	Arrhythmia	353	APRT	ORPHA:976
HP:0011675	Arrhythmia	1621	DBH	OMIM:223360
HP:0011675	Arrhythmia	140628	GATA5	OMIM:617912
HP:0011675	Arrhythmia	91624	NEXN	OMIM:613876
HP:0011675	Arrhythmia	25792	CIZ1	ORPHA:420492
HP:0011675	Arrhythmia	1282	COL4A1	OMIM:611773
HP:0011675	Arrhythmia	4508	MT-ATP6	ORPHA:320360
HP:0011675	Arrhythmia	84665	MYPN	ORPHA:75249
HP:0011675	Arrhythmia	10112	KIF20A	ORPHA:75249
HP:0011675	Arrhythmia	161742	SPRED1	ORPHA:137605
HP:0011675	Arrhythmia	4784	NFIX	OMIM:602535
HP:0011675	Arrhythmia	26092	TOR1AIP1	OMIM:617072
HP:0011675	Arrhythmia	7716	VEZF1	OMIM:620247
HP:0011675	Arrhythmia	83475	DOHH	OMIM:620066
HP:0011675	Arrhythmia	26235	FBXL4	OMIM:615471
HP:0011675	Arrhythmia	7148	TNXB	ORPHA:230839
HP:0011675	Arrhythmia	5894	RAF1	OMIM:611553
HP:0011675	Arrhythmia	5894	RAF1	ORPHA:500
HP:0011675	Arrhythmia	5894	RAF1	ORPHA:648
HP:0011675	Arrhythmia	148738	HJV	OMIM:602390
HP:0011675	Arrhythmia	54968	TMEM70	ORPHA:1194
HP:0011675	Arrhythmia	54968	TMEM70	OMIM:614052
HP:0011675	Arrhythmia	23384	SPECC1L	ORPHA:1519
HP:0011675	Arrhythmia	1161	ERCC8	OMIM:216400
HP:0011675	Arrhythmia	30061	SLC40A1	OMIM:606069
HP:0011675	Arrhythmia	3908	LAMA2	ORPHA:258
HP:0011675	Arrhythmia	6926	TBX3	ORPHA:3138
HP:0011675	Arrhythmia	6926	TBX3	OMIM:181450
HP:0011675	Arrhythmia	4512	MT-CO1	OMIM:540000
HP:0011675	Arrhythmia	4512	MT-CO1	ORPHA:104
HP:0011675	Arrhythmia	4512	MT-CO1	ORPHA:99845
HP:0011675	Arrhythmia	4513	MT-CO2	OMIM:540000
HP:0011675	Arrhythmia	4514	MT-CO3	OMIM:540000
HP:0011675	Arrhythmia	4514	MT-CO3	ORPHA:104
HP:0011675	Arrhythmia	4514	MT-CO3	ORPHA:99845
HP:0011675	Arrhythmia	4514	MT-CO3	OMIM:535000
HP:0011675	Arrhythmia	4511	MT-TC	OMIM:540000
HP:0011675	Arrhythmia	4574	MT-TS1	OMIM:540000
HP:0011675	Arrhythmia	4575	MT-TS2	OMIM:540000
HP:0011675	Arrhythmia	4558	MT-TF	OMIM:540000
HP:0011675	Arrhythmia	4541	MT-ND6	OMIM:540000
HP:0011675	Arrhythmia	4541	MT-ND6	ORPHA:104
HP:0011675	Arrhythmia	4541	MT-ND6	OMIM:535000
HP:0011675	Arrhythmia	4567	MT-TL1	OMIM:540000
HP:0011675	Arrhythmia	4567	MT-TL1	ORPHA:225
HP:0011675	Arrhythmia	4540	MT-ND5	OMIM:540000
HP:0011675	Arrhythmia	4540	MT-ND5	ORPHA:104
HP:0011675	Arrhythmia	4540	MT-ND5	OMIM:535000
HP:0011675	Arrhythmia	4566	MT-TK	OMIM:540000
HP:0011675	Arrhythmia	4566	MT-TK	ORPHA:225
HP:0011675	Arrhythmia	4535	MT-ND1	OMIM:540000
HP:0011675	Arrhythmia	4535	MT-ND1	ORPHA:104
HP:0011675	Arrhythmia	4535	MT-ND1	OMIM:535000
HP:0011675	Arrhythmia	4572	MT-TQ	OMIM:540000
HP:0011675	Arrhythmia	4577	MT-TV	OMIM:540000
HP:0011675	Arrhythmia	4578	MT-TW	OMIM:540000
HP:0011675	Arrhythmia	63976	PRDM16	OMIM:615373
HP:0011675	Arrhythmia	3423	IDS	ORPHA:217085
HP:0011675	Arrhythmia	3423	IDS	ORPHA:217093
HP:0011675	Arrhythmia	2697	GJA1	ORPHA:2710
HP:0011675	Arrhythmia	2697	GJA1	OMIM:164200
HP:0011675	Arrhythmia	222663	SCUBE3	OMIM:619184
HP:0011675	Arrhythmia	7274	TTPA	ORPHA:96
HP:0011675	Arrhythmia	7156	TOP3A	OMIM:618098
HP:0011675	Arrhythmia	3265	HRAS	OMIM:218040
HP:0011675	Arrhythmia	3265	HRAS	ORPHA:2874
HP:0011675	Arrhythmia	3043	HBB	ORPHA:231214
HP:0011675	Arrhythmia	3043	HBB	ORPHA:231226
HP:0011675	Arrhythmia	5290	PIK3CA	ORPHA:60040
HP:0011675	Arrhythmia	773	CACNA1A	ORPHA:2131
HP:0011675	Arrhythmia	6507	SLC1A3	ORPHA:2131
HP:0011675	Arrhythmia	477	ATP1A2	ORPHA:2131
HP:0011675	Arrhythmia	478	ATP1A3	ORPHA:2131
HP:0011675	Arrhythmia	5189	PEX1	ORPHA:3220
HP:0011675	Arrhythmia	5189	PEX1	ORPHA:772
HP:0011675	Arrhythmia	5190	PEX6	ORPHA:3220
HP:0011675	Arrhythmia	5190	PEX6	ORPHA:772
HP:0011675	Arrhythmia	1493	CTLA4	ORPHA:900
HP:0011675	Arrhythmia	3115	HLA-DPB1	ORPHA:900
HP:0011675	Arrhythmia	5657	PRTN3	ORPHA:900
HP:0011675	Arrhythmia	3113	HLA-DPA1	ORPHA:900
HP:0011675	Arrhythmia	4556	MT-TE	ORPHA:225
HP:0011675	Arrhythmia	4536	MT-ND2	ORPHA:104
HP:0011675	Arrhythmia	4536	MT-ND2	OMIM:535000
HP:0011675	Arrhythmia	4538	MT-ND4	ORPHA:104
HP:0011675	Arrhythmia	4538	MT-ND4	OMIM:535000
HP:0011675	Arrhythmia	4720	NDUFS2	ORPHA:104
HP:0011675	Arrhythmia	4539	MT-ND4L	ORPHA:104
HP:0011675	Arrhythmia	4539	MT-ND4L	OMIM:535000
HP:0011675	Arrhythmia	92667	MGME1	ORPHA:352447
HP:0011675	Arrhythmia	92667	MGME1	OMIM:615084
HP:0011675	Arrhythmia	4210	MEFV	ORPHA:342
HP:0011675	Arrhythmia	4247	MGAT2	ORPHA:79329
HP:0011675	Arrhythmia	2934	GSN	ORPHA:85448
HP:0011675	Arrhythmia	6901	TAFAZZIN	OMIM:302060
HP:0011675	Arrhythmia	23175	LPIN1	ORPHA:99845
HP:0011675	Arrhythmia	34	ACADM	ORPHA:42
HP:0011675	Arrhythmia	2717	GLA	OMIM:301500
HP:0011675	Arrhythmia	2717	GLA	ORPHA:324
HP:0011675	Arrhythmia	654	BMP6	ORPHA:465508
HP:0011675	Arrhythmia	51567	TDP2	OMIM:616949
HP:0011675	Arrhythmia	2303	FOXC2	ORPHA:33001
HP:0011675	Arrhythmia	2303	FOXC2	OMIM:153400
HP:0011675	Arrhythmia	3339	HSPG2	ORPHA:800
HP:0011675	Arrhythmia	226	ALDOA	ORPHA:57
HP:0011675	Arrhythmia	26100	WIPI2	OMIM:618453
HP:0011675	Arrhythmia	2719	GPC3	OMIM:312870
HP:0011675	Arrhythmia	2239	GPC4	OMIM:312870
HP:0011675	Arrhythmia	54332	GDAP1	ORPHA:99944
HP:0011675	Arrhythmia	2879	GPX4	OMIM:250220
HP:0011675	Arrhythmia	2879	GPX4	ORPHA:93317
HP:0011675	Arrhythmia	2074	ERCC6	OMIM:133540
HP:0011675	Arrhythmia	1756	DMD	OMIM:310200
HP:0011675	Arrhythmia	1756	DMD	OMIM:300376
HP:0011675	Arrhythmia	2767	GNA11	ORPHA:428
HP:0011675	Arrhythmia	846	CASR	ORPHA:428
HP:0011675	Arrhythmia	5095	PCCA	ORPHA:35
HP:0011675	Arrhythmia	5096	PCCB	ORPHA:35
HP:0011675	Arrhythmia	5191	PEX7	OMIM:266500
HP:0011675	Arrhythmia	5264	PHYH	OMIM:266500
HP:0011675	Arrhythmia	23586	RIGI	OMIM:616298
HP:0011675	Arrhythmia	267010	RNU12	OMIM:620208
HP:0011675	Arrhythmia	6663	SOX10	ORPHA:163746
HP:0011675	Arrhythmia	6329	SCN4A	ORPHA:682
HP:0011675	Arrhythmia	85366	MYLK2	OMIM:192600
HP:0011675	Arrhythmia	84705	GTPBP3	OMIM:616198
HP:0011675	Arrhythmia	57167	SALL4	ORPHA:2307
HP:0011675	Arrhythmia	3032	HADHB	ORPHA:746
HP:0011675	Arrhythmia	3030	HADHA	ORPHA:746
HP:0011675	Arrhythmia	3030	HADHA	OMIM:609015
HP:0011675	Arrhythmia	5781	PTPN11	ORPHA:500
HP:0011675	Arrhythmia	5781	PTPN11	ORPHA:648
HP:0011675	Arrhythmia	673	BRAF	ORPHA:500
HP:0011675	Arrhythmia	2776	GNAQ	ORPHA:624
HP:0011675	Arrhythmia	6340	SCNN1G	ORPHA:171876
HP:0011675	Arrhythmia	6340	SCNN1G	ORPHA:526
HP:0011675	Arrhythmia	6338	SCNN1B	ORPHA:171876
HP:0011675	Arrhythmia	6338	SCNN1B	ORPHA:526
HP:0011675	Arrhythmia	55670	PEX26	ORPHA:772
HP:0011675	Arrhythmia	5824	PEX19	ORPHA:772
HP:0011675	Arrhythmia	5828	PEX2	ORPHA:772
HP:0011675	Arrhythmia	8504	PEX3	ORPHA:772
HP:0011675	Arrhythmia	9409	PEX16	ORPHA:772
HP:0011675	Arrhythmia	8799	PEX11B	ORPHA:772
HP:0011675	Arrhythmia	5830	PEX5	ORPHA:772
HP:0011675	Arrhythmia	5193	PEX12	ORPHA:772
HP:0011675	Arrhythmia	5194	PEX13	ORPHA:772
HP:0011675	Arrhythmia	5195	PEX14	ORPHA:772
HP:0011675	Arrhythmia	5192	PEX10	ORPHA:772
HP:0011675	Arrhythmia	9759	HDAC4	OMIM:600430
HP:0011675	Arrhythmia	22800	RRAS2	ORPHA:648
HP:0011675	Arrhythmia	867	CBL	ORPHA:648
HP:0011675	Arrhythmia	8216	LZTR1	ORPHA:648
HP:0011675	Arrhythmia	6016	RIT1	ORPHA:648
HP:0011675	Arrhythmia	6237	RRAS	ORPHA:648
HP:0011675	Arrhythmia	22808	MRAS	ORPHA:648
HP:0011675	Arrhythmia	3845	KRAS	ORPHA:648
HP:0011675	Arrhythmia	200734	SPRED2	ORPHA:648
HP:0011675	Arrhythmia	4893	NRAS	ORPHA:648
HP:0011675	Arrhythmia	6654	SOS1	ORPHA:648
HP:0011675	Arrhythmia	6655	SOS2	ORPHA:648
HP:0011675	Arrhythmia	5922	RASA2	ORPHA:648
HP:0011675	Arrhythmia	5696	PSMB8	OMIM:256040
HP:0011675	Arrhythmia	4838	NODAL	OMIM:270100
HP:0011675	Arrhythmia	7169	TPM2	ORPHA:171881
HP:0011675	Arrhythmia	7170	TPM3	ORPHA:171881
HP:0011675	Arrhythmia	2548	GAA	OMIM:232300
HP:0011675	Arrhythmia	8815	BANF1	OMIM:614008
HP:0011675	Arrhythmia	411	ARSB	OMIM:253200
HP:0011675	Arrhythmia	1349	COX7B	OMIM:309801
HP:0011675	Arrhythmia	3052	HCCS	OMIM:309801
HP:0011675	Arrhythmia	5236	PGM1	OMIM:614921
HP:0011675	Arrhythmia	6262	RYR2	OMIM:115000
HP:0011675	Arrhythmia	51422	PRKAG2	OMIM:600858
HP:0011675	Arrhythmia	2260	FGFR1	ORPHA:220386
HP:0011675	Arrhythmia	2260	FGFR1	ORPHA:93924
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:220386
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93926
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93924
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93925
HP:0011675	Arrhythmia	10735	STAG2	ORPHA:220386
HP:0011675	Arrhythmia	10735	STAG2	ORPHA:93925
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:220386
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93926
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93924
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93925
HP:0011675	Arrhythmia	8243	SMC1A	ORPHA:220386
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:220386
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93926
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93924
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93925
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:220386
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93926
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93924
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93925
HP:0011675	Arrhythmia	6469	SHH	ORPHA:220386
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93926
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93924
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93925
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:220386
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93926
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93924
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93925
HP:0011675	Arrhythmia	6491	STIL	ORPHA:220386
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93926
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93924
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93925
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:220386
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93926
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93924
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93925
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:220386
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93926
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93924
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93925
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:220386
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93926
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93924
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93925
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:220386
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93926
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93924
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93925
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:220386
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93926
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93924
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93925
HP:0011675	Arrhythmia	50937	CDON	ORPHA:220386
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93926
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93924
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93925
HP:0011675	Arrhythmia	23007	PLCH1	ORPHA:93925
HP:0011675	Arrhythmia	2581	GALC	ORPHA:206436
HP:0011675	Arrhythmia	5660	PSAP	ORPHA:206436
HP:0011675	Arrhythmia	8567	MADD	OMIM:619004
HP:0011675	Arrhythmia	8567	MADD	OMIM:619005
HP:0011675	Arrhythmia	8929	PHOX2B	OMIM:209880
HP:0011675	Arrhythmia	776	CACNA1D	OMIM:614896
HP:0005157	Concentric hypertrophic cardiomyopathy	4724	NDUFS4	OMIM:252010
HP:0005157	Concentric hypertrophic cardiomyopathy	7134	TNNC1	OMIM:613243
HP:0005157	Concentric hypertrophic cardiomyopathy	1674	DES	ORPHA:98909
HP:0005157	Concentric hypertrophic cardiomyopathy	1201	CLN3	OMIM:204200
HP:0005157	Concentric hypertrophic cardiomyopathy	57538	ALPK3	OMIM:618052
HP:0005157	Concentric hypertrophic cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0005157	Concentric hypertrophic cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0005157	Concentric hypertrophic cardiomyopathy	10102	TSFM	OMIM:610505
HP:0005156	Hypoplastic left atrium	5915	RARB	OMIM:615524
HP:0005156	Hypoplastic left atrium	64220	STRA6	OMIM:601186
HP:0005155	Ventricular escape rhythm	6331	SCN5A	ORPHA:1344
HP:0005155	Ventricular escape rhythm	6331	SCN5A	OMIM:608567
HP:0005155	Ventricular escape rhythm	4878	NPPA	ORPHA:1344
HP:0005155	Ventricular escape rhythm	2702	GJA5	OMIM:108770
HP:0005155	Ventricular escape rhythm	4000	LMNA	ORPHA:98855
HP:0005155	Ventricular escape rhythm	4000	LMNA	ORPHA:98853
HP:0005155	Ventricular escape rhythm	10681	GNB5	ORPHA:542306
HP:0005155	Ventricular escape rhythm	151648	SGO1	OMIM:616201
HP:0005155	Ventricular escape rhythm	2273	FHL1	ORPHA:98863
HP:0005155	Ventricular escape rhythm	2010	EMD	ORPHA:98863
HP:0005155	Ventricular escape rhythm	79188	TMEM43	ORPHA:98853
HP:0005155	Ventricular escape rhythm	23345	SYNE1	ORPHA:98853
HP:0005155	Ventricular escape rhythm	23224	SYNE2	ORPHA:98853
HP:0005162	Abnormal left ventricular function	3949	LDLR	ORPHA:391665
HP:0005162	Abnormal left ventricular function	255738	PCSK9	ORPHA:391665
HP:0005162	Abnormal left ventricular function	26119	LDLRAP1	ORPHA:391665
HP:0005162	Abnormal left ventricular function	338	APOB	ORPHA:391665
HP:0005162	Abnormal left ventricular function	64240	ABCG5	ORPHA:391665
HP:0005162	Abnormal left ventricular function	64241	ABCG8	ORPHA:391665
HP:0005162	Abnormal left ventricular function	7428	VHL	ORPHA:892
HP:0005162	Abnormal left ventricular function	595	CCND1	ORPHA:892
HP:0005162	Abnormal left ventricular function	4512	MT-CO1	OMIM:540000
HP:0005162	Abnormal left ventricular function	4513	MT-CO2	OMIM:540000
HP:0005162	Abnormal left ventricular function	4514	MT-CO3	OMIM:540000
HP:0005162	Abnormal left ventricular function	4519	MT-CYB	OMIM:540000
HP:0005162	Abnormal left ventricular function	4511	MT-TC	OMIM:540000
HP:0005162	Abnormal left ventricular function	4574	MT-TS1	OMIM:540000
HP:0005162	Abnormal left ventricular function	4575	MT-TS2	OMIM:540000
HP:0005162	Abnormal left ventricular function	4558	MT-TF	OMIM:540000
HP:0005162	Abnormal left ventricular function	4541	MT-ND6	OMIM:540000
HP:0005162	Abnormal left ventricular function	4567	MT-TL1	OMIM:540000
HP:0005162	Abnormal left ventricular function	4540	MT-ND5	OMIM:540000
HP:0005162	Abnormal left ventricular function	4566	MT-TK	OMIM:540000
HP:0005162	Abnormal left ventricular function	4535	MT-ND1	OMIM:540000
HP:0005162	Abnormal left ventricular function	4572	MT-TQ	OMIM:540000
HP:0005162	Abnormal left ventricular function	4577	MT-TV	OMIM:540000
HP:0005162	Abnormal left ventricular function	4578	MT-TW	OMIM:540000
HP:0005162	Abnormal left ventricular function	7092	TLL1	ORPHA:99103
HP:0005162	Abnormal left ventricular function	57057	TBX20	ORPHA:99103
HP:0005162	Abnormal left ventricular function	4624	MYH6	ORPHA:99103
HP:0005162	Abnormal left ventricular function	1482	NKX2-5	ORPHA:99103
HP:0005162	Abnormal left ventricular function	70	ACTC1	ORPHA:99103
HP:0005162	Abnormal left ventricular function	10370	CITED2	ORPHA:99103
HP:0005162	Abnormal left ventricular function	2626	GATA4	ORPHA:99103
HP:0005162	Abnormal left ventricular function	2627	GATA6	ORPHA:99103
HP:0005162	Abnormal left ventricular function	4625	MYH7	ORPHA:437572
HP:0005162	Abnormal left ventricular function	54914	FOCAD	OMIM:619991
HP:0005162	Abnormal left ventricular function	10585	POMT1	OMIM:613155
HP:0005162	Abnormal left ventricular function	6389	SDHA	ORPHA:3208
HP:0005162	Abnormal left ventricular function	6390	SDHB	ORPHA:3208
HP:0005162	Abnormal left ventricular function	644096	SDHAF1	ORPHA:3208
HP:0005162	Abnormal left ventricular function	4629	MYH11	OMIM:132900
HP:0005162	Abnormal left ventricular function	4629	MYH11	ORPHA:229
HP:0005162	Abnormal left ventricular function	4629	MYH11	ORPHA:91387
HP:0005162	Abnormal left ventricular function	84665	MYPN	ORPHA:75249
HP:0005162	Abnormal left ventricular function	2318	FLNC	ORPHA:75249
HP:0005162	Abnormal left ventricular function	7139	TNNT2	ORPHA:75249
HP:0005162	Abnormal left ventricular function	7137	TNNI3	ORPHA:75249
HP:0005162	Abnormal left ventricular function	10112	KIF20A	ORPHA:75249
HP:0005162	Abnormal left ventricular function	2070	EYA4	OMIM:605362
HP:0005162	Abnormal left ventricular function	55593	OTUD5	OMIM:301056
HP:0005162	Abnormal left ventricular function	11155	LDB3	ORPHA:98912
HP:0005162	Abnormal left ventricular function	7046	TGFBR1	ORPHA:91387
HP:0005162	Abnormal left ventricular function	7048	TGFBR2	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4015	LOX	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4087	SMAD2	ORPHA:91387
HP:0005162	Abnormal left ventricular function	7043	TGFB3	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4088	SMAD3	ORPHA:91387
HP:0005162	Abnormal left ventricular function	7042	TGFB2	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4089	SMAD4	ORPHA:91387
HP:0005162	Abnormal left ventricular function	2200	FBN1	ORPHA:91387
HP:0005162	Abnormal left ventricular function	59	ACTA2	ORPHA:91387
HP:0005162	Abnormal left ventricular function	5592	PRKG1	ORPHA:91387
HP:0005162	Abnormal left ventricular function	2301	FOXE3	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4144	MAT2A	ORPHA:91387
HP:0005162	Abnormal left ventricular function	23493	HEY2	ORPHA:91387
HP:0005162	Abnormal left ventricular function	8076	MFAP5	ORPHA:91387
HP:0005162	Abnormal left ventricular function	4638	MYLK	ORPHA:91387
HP:0005162	Abnormal left ventricular function	2006	ELN	ORPHA:91387
HP:0005162	Abnormal left ventricular function	79147	FKRP	OMIM:607155
HP:0005162	Abnormal left ventricular function	7156	TOP3A	OMIM:618098
HP:0005162	Abnormal left ventricular function	291	SLC25A4	ORPHA:254892
HP:0005162	Abnormal left ventricular function	5428	POLG	ORPHA:254892
HP:0005162	Abnormal left ventricular function	56652	TWNK	ORPHA:254892
HP:0005162	Abnormal left ventricular function	11232	POLG2	ORPHA:254892
HP:0005162	Abnormal left ventricular function	50484	RRM2B	ORPHA:254892
HP:0005162	Abnormal left ventricular function	79717	PPCS	OMIM:618189
HP:0005162	Abnormal left ventricular function	37	ACADVL	OMIM:201475
HP:0005162	Abnormal left ventricular function	4607	MYBPC3	OMIM:115197
HP:0005162	Abnormal left ventricular function	5664	PSEN2	OMIM:613697
HP:0005162	Abnormal left ventricular function	4878	NPPA	OMIM:612201
HP:0005162	Abnormal left ventricular function	4878	NPPA	ORPHA:1344
HP:0005162	Abnormal left ventricular function	3910	LAMA4	OMIM:615235
HP:0005162	Abnormal left ventricular function	5894	RAF1	OMIM:615916
HP:0005162	Abnormal left ventricular function	8048	CSRP3	OMIM:607482
HP:0005162	Abnormal left ventricular function	8291	DYSF	ORPHA:268
HP:0005162	Abnormal left ventricular function	1674	DES	OMIM:604765
HP:0005162	Abnormal left ventricular function	80206	FHOD3	OMIM:619402
HP:0005162	Abnormal left ventricular function	57798	GATAD1	OMIM:614672
HP:0005162	Abnormal left ventricular function	7276	TTR	ORPHA:85451
HP:0005162	Abnormal left ventricular function	3908	LAMA2	ORPHA:258
HP:0005162	Abnormal left ventricular function	58528	RRAGD	OMIM:620152
HP:0005162	Abnormal left ventricular function	6123	RPL3L	OMIM:619371
HP:0005162	Abnormal left ventricular function	388753	COA6	OMIM:616501
HP:0005162	Abnormal left ventricular function	2702	GJA5	OMIM:614049
HP:0005162	Abnormal left ventricular function	6331	SCN5A	ORPHA:1344
HP:0005162	Abnormal left ventricular function	6331	SCN5A	OMIM:601154
HP:0005162	Abnormal left ventricular function	439	GET3	OMIM:620203
HP:0005162	Abnormal left ventricular function	7716	VEZF1	OMIM:620247
HP:0005162	Abnormal left ventricular function	91624	NEXN	OMIM:613876
HP:0005162	Abnormal left ventricular function	91624	NEXN	OMIM:613122
HP:0005162	Abnormal left ventricular function	2218	FKTN	OMIM:611615
HP:0005162	Abnormal left ventricular function	4634	MYL3	OMIM:608751
HP:0005162	Abnormal left ventricular function	51778	MYOZ2	OMIM:613838
HP:0005162	Abnormal left ventricular function	57505	AARS2	OMIM:614096
HP:0005162	Abnormal left ventricular function	3762	KCNJ5	OMIM:613485
HP:0005162	Abnormal left ventricular function	7134	TNNC1	OMIM:613243
HP:0005162	Abnormal left ventricular function	7273	TTN	OMIM:604145
HP:0005162	Abnormal left ventricular function	6444	SGCD	OMIM:606685
HP:0005162	Abnormal left ventricular function	567	B2M	ORPHA:314652
HP:0005162	Abnormal left ventricular function	3920	LAMP2	OMIM:300257
HP:0005162	Abnormal left ventricular function	442721	LMOD2	OMIM:619897
HP:0005162	Abnormal left ventricular function	84705	GTPBP3	ORPHA:444013
HP:0005162	Abnormal left ventricular function	57538	ALPK3	OMIM:618052
HP:0005162	Abnormal left ventricular function	171019	ADAMTS19	OMIM:620067
HP:0005162	Abnormal left ventricular function	6445	SGCG	ORPHA:353
HP:0005162	Abnormal left ventricular function	4000	LMNA	ORPHA:740
HP:0005162	Abnormal left ventricular function	10269	ZMPSTE24	ORPHA:740
HP:0005162	Abnormal left ventricular function	282996	RBM20	OMIM:613172
HP:0005162	Abnormal left ventricular function	5167	ENPP1	ORPHA:51608
HP:0005162	Abnormal left ventricular function	368	ABCC6	ORPHA:51608
HP:0005162	Abnormal left ventricular function	63976	PRDM16	OMIM:615373
HP:0005162	Abnormal left ventricular function	6392	SDHD	OMIM:619167
HP:0005162	Abnormal left ventricular function	29954	POMT2	OMIM:613156
HP:0005162	Abnormal left ventricular function	29954	POMT2	ORPHA:206559
HP:0005162	Abnormal left ventricular function	6533	SLC6A6	OMIM:145350
HP:0005162	Abnormal left ventricular function	10060	ABCC9	OMIM:619719
HP:0005162	Abnormal left ventricular function	2548	GAA	ORPHA:308552
HP:0005162	Abnormal left ventricular function	23118	TAB2	OMIM:614980
HP:0005162	Abnormal left ventricular function	7026	NR2F2	OMIM:615779
HP:0005162	Abnormal left ventricular function	2657	GDF1	OMIM:613854
HP:0005162	Abnormal left ventricular function	1756	DMD	OMIM:302045
HP:0005162	Abnormal left ventricular function	1410	CRYAB	OMIM:615184
HP:0005162	Abnormal left ventricular function	9531	BAG3	OMIM:613881
HP:0005162	Abnormal left ventricular function	5663	PSEN1	OMIM:613694
HP:0005162	Abnormal left ventricular function	9529	BAG5	OMIM:619747
HP:0005162	Abnormal left ventricular function	6901	TAFAZZIN	OMIM:302060
HP:0005162	Abnormal left ventricular function	1829	DSG2	OMIM:612877
HP:0005162	Abnormal left ventricular function	7168	TPM1	OMIM:611878
HP:0005162	Abnormal left ventricular function	7414	VCL	OMIM:613255
HP:0005162	Abnormal left ventricular function	54800	KLHL24	OMIM:620236
HP:0005152	Histiocytoid cardiomyopathy	1349	COX7B	OMIM:309801
HP:0005152	Histiocytoid cardiomyopathy	3052	HCCS	OMIM:309801
HP:0005152	Histiocytoid cardiomyopathy	54539	NDUFB11	OMIM:309801
HP:0005152	Histiocytoid cardiomyopathy	54539	NDUFB11	OMIM:300952
HP:0005151	Preductal coarctation of the aorta	2737	GLI3	OMIM:146510
HP:0005151	Preductal coarctation of the aorta	5745	PTH1R	OMIM:215045
HP:0005150	Abnormal atrioventricular conduction	51422	PRKAG2	OMIM:600858
HP:0005150	Abnormal atrioventricular conduction	2879	GPX4	ORPHA:93317
HP:0005150	Abnormal atrioventricular conduction	4519	MT-CYB	ORPHA:137675
HP:0005150	Abnormal atrioventricular conduction	189	AGXT	OMIM:259900
HP:0005150	Abnormal atrioventricular conduction	788	SLC25A20	OMIM:212138
HP:0005150	Abnormal atrioventricular conduction	6262	RYR2	OMIM:604772
HP:0005150	Abnormal atrioventricular conduction	845	CASQ2	OMIM:604772
HP:0005150	Abnormal atrioventricular conduction	10345	TRDN	OMIM:604772
HP:0005150	Abnormal atrioventricular conduction	2717	GLA	ORPHA:324
HP:0005150	Abnormal atrioventricular conduction	2273	FHL1	ORPHA:98863
HP:0005150	Abnormal atrioventricular conduction	4313	MMP2	ORPHA:371428
HP:0005150	Abnormal atrioventricular conduction	4323	MMP14	ORPHA:371428
HP:0005150	Abnormal atrioventricular conduction	6330	SCN4B	OMIM:611819
HP:0005150	Abnormal atrioventricular conduction	37	ACADVL	ORPHA:26793
HP:0005150	Abnormal atrioventricular conduction	2318	FLNC	OMIM:617047
HP:0005150	Abnormal atrioventricular conduction	2783	GNB2	OMIM:619464
HP:0005150	Abnormal atrioventricular conduction	3762	KCNJ5	OMIM:613485
HP:0005150	Abnormal atrioventricular conduction	88	ACTN2	OMIM:612158
HP:0005150	Abnormal atrioventricular conduction	3759	KCNJ2	ORPHA:51083
HP:0005150	Abnormal atrioventricular conduction	3784	KCNQ1	ORPHA:51083
HP:0005150	Abnormal atrioventricular conduction	3757	KCNH2	ORPHA:51083
HP:0005150	Abnormal atrioventricular conduction	6508	SLC4A3	ORPHA:51083
HP:0005150	Abnormal atrioventricular conduction	7273	TTN	OMIM:604145
HP:0005150	Abnormal atrioventricular conduction	7273	TTN	OMIM:611705
HP:0005150	Abnormal atrioventricular conduction	79188	TMEM43	ORPHA:98853
HP:0005150	Abnormal atrioventricular conduction	23345	SYNE1	ORPHA:98853
HP:0005150	Abnormal atrioventricular conduction	23224	SYNE2	ORPHA:98853
HP:0005150	Abnormal atrioventricular conduction	2902	GRIN1	OMIM:619814
HP:0005150	Abnormal atrioventricular conduction	5593	PRKG2	OMIM:619636
HP:0005150	Abnormal atrioventricular conduction	4509	MT-ATP8	ORPHA:480
HP:0005150	Abnormal atrioventricular conduction	4567	MT-TL1	ORPHA:480
HP:0005150	Abnormal atrioventricular conduction	5781	PTPN11	OMIM:151100
HP:0005150	Abnormal atrioventricular conduction	1674	DES	OMIM:601419
HP:0005150	Abnormal atrioventricular conduction	50619	DEF6	OMIM:619573
HP:0005150	Abnormal atrioventricular conduction	50484	RRM2B	ORPHA:329336
HP:0005150	Abnormal atrioventricular conduction	246243	RNASEH1	ORPHA:329336
HP:0005150	Abnormal atrioventricular conduction	6389	SDHA	ORPHA:3208
HP:0005150	Abnormal atrioventricular conduction	6390	SDHB	ORPHA:3208
HP:0005150	Abnormal atrioventricular conduction	6392	SDHD	ORPHA:3208
HP:0005150	Abnormal atrioventricular conduction	644096	SDHAF1	ORPHA:3208
HP:0005150	Abnormal atrioventricular conduction	7276	TTR	ORPHA:85451
HP:0005150	Abnormal atrioventricular conduction	4000	LMNA	OMIM:181350
HP:0005150	Abnormal atrioventricular conduction	4000	LMNA	OMIM:115200
HP:0005150	Abnormal atrioventricular conduction	7092	TLL1	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	7092	TLL1	ORPHA:99106
HP:0005150	Abnormal atrioventricular conduction	57057	TBX20	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	4624	MYH6	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	1482	NKX2-5	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	70	ACTC1	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	10370	CITED2	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	10370	CITED2	ORPHA:99105
HP:0005150	Abnormal atrioventricular conduction	2626	GATA4	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	2627	GATA6	ORPHA:99103
HP:0005150	Abnormal atrioventricular conduction	2702	GJA5	OMIM:108770
HP:0005150	Abnormal atrioventricular conduction	23630	KCNE5	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	10371	SEMA3A	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	54795	TRPM4	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	10021	HCN4	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	3764	KCNJ8	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	3752	KCND3	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	5318	PKP2	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	7871	SLMAP	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	10060	ABCC9	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	29098	RANGRF	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	6336	SCN10A	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	10008	KCNE3	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	55800	SCN3B	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	10142	AKAP9	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	783	CACNB2	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	6337	SCNN1A	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	6327	SCN2B	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	781	CACNA2D1	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	775	CACNA1C	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	6324	SCN1B	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	6331	SCN5A	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	23171	GPD1L	ORPHA:130
HP:0005150	Abnormal atrioventricular conduction	23171	GPD1L	OMIM:611777
HP:0005150	Abnormal atrioventricular conduction	1837	DTNA	OMIM:604169
HP:0005150	Abnormal atrioventricular conduction	4635	MYL4	OMIM:617280
HP:0005150	Abnormal atrioventricular conduction	1760	DMPK	ORPHA:589821
HP:0005150	Abnormal atrioventricular conduction	1760	DMPK	OMIM:160900
HP:0005150	Abnormal atrioventricular conduction	6910	TBX5	ORPHA:392
HP:0005150	Abnormal atrioventricular conduction	4607	MYBPC3	OMIM:115197
HP:0005150	Abnormal atrioventricular conduction	5663	PSEN1	OMIM:613694
HP:0005150	Abnormal atrioventricular conduction	3777	KCNK3	OMIM:615344
HP:0005150	Abnormal atrioventricular conduction	5664	PSEN2	OMIM:613697
HP:0005150	Abnormal atrioventricular conduction	84665	MYPN	OMIM:617336
HP:0005150	Abnormal atrioventricular conduction	29119	CTNNA3	OMIM:615616
HP:0005150	Abnormal atrioventricular conduction	2010	EMD	OMIM:310300
HP:0005150	Abnormal atrioventricular conduction	83475	DOHH	OMIM:620066
HP:0005150	Abnormal atrioventricular conduction	11149	BVES	OMIM:616812
HP:0005150	Abnormal atrioventricular conduction	7716	VEZF1	OMIM:620247
HP:0005150	Abnormal atrioventricular conduction	23395	LARS2	OMIM:617021
HP:0005150	Abnormal atrioventricular conduction	3920	LAMP2	OMIM:300257
HP:0005150	Abnormal atrioventricular conduction	776	CACNA1D	ORPHA:369929
HP:0005150	Abnormal atrioventricular conduction	776	CACNA1D	OMIM:615474
HP:0005150	Abnormal atrioventricular conduction	8318	CDC45	OMIM:617063
HP:0005150	Abnormal atrioventricular conduction	100134444	KCNJ18	ORPHA:79102
HP:0005150	Abnormal atrioventricular conduction	2556	GABRA3	ORPHA:79102
HP:0005150	Abnormal atrioventricular conduction	779	CACNA1S	ORPHA:79102
HP:0005150	Abnormal atrioventricular conduction	808	CALM3	OMIM:618782
HP:0005150	Abnormal atrioventricular conduction	4878	NPPA	ORPHA:1344
HP:0005150	Abnormal atrioventricular conduction	805	CALM2	OMIM:616249
HP:0005150	Abnormal atrioventricular conduction	801	CALM1	OMIM:616247
HP:0031071	Abnormal endocrine morphology	2737	GLI3	ORPHA:672
HP:0031071	Abnormal endocrine morphology	2737	GLI3	OMIM:146510
HP:0031071	Abnormal endocrine morphology	128	ADH5	OMIM:619151
HP:0031071	Abnormal endocrine morphology	9897	WASHC5	OMIM:220210
HP:0031071	Abnormal endocrine morphology	9897	WASHC5	ORPHA:7
HP:0031071	Abnormal endocrine morphology	9095	TBX19	ORPHA:199296
HP:0031071	Abnormal endocrine morphology	9095	TBX19	OMIM:201400
HP:0031071	Abnormal endocrine morphology	54809	SAMD9	OMIM:617053
HP:0031071	Abnormal endocrine morphology	50814	NSDHL	OMIM:308050
HP:0031071	Abnormal endocrine morphology	7148	TNXB	ORPHA:230839
HP:0031071	Abnormal endocrine morphology	8425	LTBP4	OMIM:613177
HP:0031071	Abnormal endocrine morphology	1583	CYP11A1	ORPHA:168558
HP:0031071	Abnormal endocrine morphology	1583	CYP11A1	ORPHA:289548
HP:0031071	Abnormal endocrine morphology	128674	PROKR2	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	89884	LHX4	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	55717	WDR11	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	6091	ROBO1	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	8820	HESX1	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	50937	CDON	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	23432	GPR161	ORPHA:95496
HP:0031071	Abnormal endocrine morphology	10269	ZMPSTE24	OMIM:275210
HP:0031071	Abnormal endocrine morphology	6496	SIX3	OMIM:157170
HP:0031071	Abnormal endocrine morphology	28952	CCDC22	ORPHA:7
HP:0031071	Abnormal endocrine morphology	190	NR0B1	OMIM:300200
HP:0031071	Abnormal endocrine morphology	5443	POMC	OMIM:609734
HP:0031071	Abnormal endocrine morphology	652	BMP4	OMIM:607932
HP:0031071	Abnormal endocrine morphology	54903	MKS1	OMIM:249000
HP:0031071	Abnormal endocrine morphology	22858	CILK1	OMIM:612651
HP:0031071	Abnormal endocrine morphology	1028	CDKN1C	OMIM:614732
HP:0031071	Abnormal endocrine morphology	1028	CDKN1C	ORPHA:85173
HP:0031071	Abnormal endocrine morphology	5426	POLE	ORPHA:85173
HP:0031071	Abnormal endocrine morphology	4524	MTHFR	ORPHA:563609
HP:0031071	Abnormal endocrine morphology	57216	VANGL2	ORPHA:563609
HP:0031071	Abnormal endocrine morphology	5189	PEX1	OMIM:214100
HP:0031071	Abnormal endocrine morphology	1026	CDKN1A	ORPHA:652
HP:0031071	Abnormal endocrine morphology	1030	CDKN2B	ORPHA:652
HP:0031071	Abnormal endocrine morphology	1031	CDKN2C	ORPHA:652
HP:0031071	Abnormal endocrine morphology	137814	NKX2-6	ORPHA:3384
HP:0031071	Abnormal endocrine morphology	23129	PLXND1	ORPHA:3384
HP:0031071	Abnormal endocrine morphology	215	ABCD1	ORPHA:139399
HP:0031071	Abnormal endocrine morphology	5566	PRKACA	ORPHA:189439
HP:0031071	Abnormal endocrine morphology	8622	PDE8B	ORPHA:189439
HP:0031071	Abnormal endocrine morphology	5573	PRKAR1A	ORPHA:189439
HP:0031071	Abnormal endocrine morphology	5573	PRKAR1A	OMIM:610489
HP:0031071	Abnormal endocrine morphology	5573	PRKAR1A	ORPHA:1359
HP:0031071	Abnormal endocrine morphology	50940	PDE11A	ORPHA:189439
HP:0031071	Abnormal endocrine morphology	50940	PDE11A	OMIM:610475
HP:0031071	Abnormal endocrine morphology	50940	PDE11A	ORPHA:1359
HP:0031071	Abnormal endocrine morphology	84133	ZNRF3	ORPHA:1501
HP:0031071	Abnormal endocrine morphology	1499	CTNNB1	ORPHA:1501
HP:0031071	Abnormal endocrine morphology	1029	CDKN2A	ORPHA:1501
HP:0031071	Abnormal endocrine morphology	1029	CDKN2A	ORPHA:524
HP:0031071	Abnormal endocrine morphology	7015	TERT	ORPHA:1501
HP:0031071	Abnormal endocrine morphology	4193	MDM2	ORPHA:524
HP:0031071	Abnormal endocrine morphology	11200	CHEK2	ORPHA:524
HP:0031071	Abnormal endocrine morphology	7428	VHL	ORPHA:892
HP:0031071	Abnormal endocrine morphology	7428	VHL	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	7428	VHL	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	595	CCND1	ORPHA:892
HP:0031071	Abnormal endocrine morphology	1743	DLST	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	4191	MDH2	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	5979	RET	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	5979	RET	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	6389	SDHA	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	23095	KIF1B	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	2271	FH	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	8402	SLC25A11	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	54949	SDHAF2	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	55654	TMEM127	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	4763	NF1	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	6391	SDHC	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	6391	SDHC	OMIM:605373
HP:0031071	Abnormal endocrine morphology	6392	SDHD	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	6392	SDHD	OMIM:168000
HP:0031071	Abnormal endocrine morphology	6392	SDHD	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	6390	SDHB	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	6390	SDHB	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	6390	SDHB	OMIM:115310
HP:0031071	Abnormal endocrine morphology	4149	MAX	ORPHA:29072
HP:0031071	Abnormal endocrine morphology	1788	DNMT3A	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	2034	EPAS1	ORPHA:276621
HP:0031071	Abnormal endocrine morphology	2710	GK	OMIM:307030
HP:0031071	Abnormal endocrine morphology	10984	KCNQ1OT1	OMIM:130650
HP:0031071	Abnormal endocrine morphology	3481	IGF2	OMIM:130650
HP:0031071	Abnormal endocrine morphology	3784	KCNQ1	OMIM:130650
HP:0031071	Abnormal endocrine morphology	219844	HYLS1	OMIM:236680
HP:0031071	Abnormal endocrine morphology	1589	CYP21A2	OMIM:201910
HP:0031071	Abnormal endocrine morphology	84196	USP48	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	7157	TP53	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	9101	USP8	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	64072	CDH23	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	2908	NR3C1	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	2908	NR3C1	ORPHA:786
HP:0031071	Abnormal endocrine morphology	673	BRAF	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	546	ATRX	ORPHA:96253
HP:0031071	Abnormal endocrine morphology	776	CACNA1D	ORPHA:369929
HP:0031071	Abnormal endocrine morphology	3762	KCNJ5	OMIM:613677
HP:0031071	Abnormal endocrine morphology	3762	KCNJ5	ORPHA:251274
HP:0031071	Abnormal endocrine morphology	326	AIRE	ORPHA:3453
HP:0031071	Abnormal endocrine morphology	526	ATP6V1B2	ORPHA:79500
HP:0031071	Abnormal endocrine morphology	57465	TBC1D24	ORPHA:79500
HP:0031071	Abnormal endocrine morphology	79798	ARMC5	ORPHA:189427
HP:0031071	Abnormal endocrine morphology	79798	ARMC5	OMIM:615954
HP:0031071	Abnormal endocrine morphology	2778	GNAS	ORPHA:189427
HP:0031071	Abnormal endocrine morphology	2778	GNAS	OMIM:219080
HP:0031071	Abnormal endocrine morphology	51256	TBC1D7	OMIM:248000
HP:0031071	Abnormal endocrine morphology	4000	LMNA	ORPHA:1662
HP:0031071	Abnormal endocrine morphology	6329	SCN4A	ORPHA:681
HP:0031071	Abnormal endocrine morphology	779	CACNA1S	ORPHA:681
HP:0031071	Abnormal endocrine morphology	10008	KCNE3	ORPHA:681
HP:0031071	Abnormal endocrine morphology	4221	MEN1	OMIM:131100
HP:0031071	Abnormal endocrine morphology	324	APC	OMIM:175100
HP:0031071	Abnormal endocrine morphology	324	APC	ORPHA:247806
HP:0031071	Abnormal endocrine morphology	324	APC	ORPHA:79665
HP:0031071	Abnormal endocrine morphology	1027	CDKN1B	ORPHA:276152
HP:0031071	Abnormal endocrine morphology	6770	STAR	OMIM:201710
HP:0031071	Abnormal endocrine morphology	3284	HSD3B2	ORPHA:90791
HP:0031071	Abnormal endocrine morphology	1586	CYP17A1	ORPHA:90793
HP:0031071	Abnormal endocrine morphology	1584	CYP11B1	OMIM:202010
HP:0031071	Abnormal endocrine morphology	5447	POR	OMIM:613571
HP:0031071	Abnormal endocrine morphology	3988	LIPA	OMIM:278000
HP:0031071	Abnormal endocrine morphology	3988	LIPA	ORPHA:75233
HP:0031071	Abnormal endocrine morphology	3988	LIPA	ORPHA:75234
HP:0031071	Abnormal endocrine morphology	5167	ENPP1	ORPHA:51608
HP:0031071	Abnormal endocrine morphology	368	ABCC6	ORPHA:51608
HP:0031071	Abnormal endocrine morphology	7473	WNT3	OMIM:273395
HP:0031071	Abnormal endocrine morphology	54361	WNT4	OMIM:611812
HP:0031071	Abnormal endocrine morphology	1181	CLCN2	ORPHA:404
HP:0031071	Abnormal endocrine morphology	1585	CYP11B2	ORPHA:403
HP:0031071	Abnormal endocrine morphology	7528	YY1	ORPHA:97279
HP:0031071	Abnormal endocrine morphology	3418	IDH2	ORPHA:163634
HP:0031071	Abnormal endocrine morphology	3417	IDH1	ORPHA:163634
HP:0031071	Abnormal endocrine morphology	5728	PTEN	ORPHA:109
HP:0031072	Abnormal endocrine physiology	7528	YY1	ORPHA:506358
HP:0031072	Abnormal endocrine physiology	6909	TBX2	OMIM:618223
HP:0031072	Abnormal endocrine physiology	1859	DYRK1A	ORPHA:268261
HP:0031072	Abnormal endocrine physiology	5122	PCSK1	ORPHA:71528
HP:0031072	Abnormal endocrine physiology	23394	ADNP	OMIM:615873
HP:0031072	Abnormal endocrine physiology	10785	WDR4	OMIM:618347
HP:0031072	Abnormal endocrine physiology	22800	RRAS2	OMIM:618624
HP:0031072	Abnormal endocrine physiology	8675	STX16	ORPHA:94089
HP:0031072	Abnormal endocrine physiology	8626	TP63	OMIM:604292
HP:0031072	Abnormal endocrine physiology	8626	TP63	ORPHA:1896
HP:0031072	Abnormal endocrine physiology	7681	MKRN3	OMIM:176270
HP:0031072	Abnormal endocrine physiology	3653	IPW	OMIM:176270
HP:0031072	Abnormal endocrine physiology	54551	MAGEL2	OMIM:176270
HP:0031072	Abnormal endocrine physiology	54551	MAGEL2	ORPHA:177904
HP:0031072	Abnormal endocrine physiology	54551	MAGEL2	ORPHA:177901
HP:0031072	Abnormal endocrine physiology	54551	MAGEL2	ORPHA:98754
HP:0031072	Abnormal endocrine physiology	791114	PWRN1	OMIM:176270
HP:0031072	Abnormal endocrine physiology	100033413	SNORD116-1	OMIM:176270
HP:0031072	Abnormal endocrine physiology	8924	HERC2	OMIM:176270
HP:0031072	Abnormal endocrine physiology	145624	PWAR1	OMIM:176270
HP:0031072	Abnormal endocrine physiology	23742	NPAP1	OMIM:176270
HP:0031072	Abnormal endocrine physiology	338433	SNORD115-1	OMIM:176270
HP:0031072	Abnormal endocrine physiology	91147	TMEM67	OMIM:602152
HP:0031072	Abnormal endocrine physiology	27125	AFF4	ORPHA:444077
HP:0031072	Abnormal endocrine physiology	55315	SLC29A3	OMIM:602782
HP:0031072	Abnormal endocrine physiology	7707	ZNF148	OMIM:617260
HP:0031072	Abnormal endocrine physiology	6658	SOX3	OMIM:300123
HP:0031072	Abnormal endocrine physiology	6658	SOX3	ORPHA:67045
HP:0031072	Abnormal endocrine physiology	6658	SOX3	ORPHA:90695
HP:0031072	Abnormal endocrine physiology	55159	RFWD3	OMIM:617784
HP:0031072	Abnormal endocrine physiology	113179	ADAT3	ORPHA:363528
HP:0031072	Abnormal endocrine physiology	113179	ADAT3	OMIM:615286
HP:0031072	Abnormal endocrine physiology	55215	FANCI	OMIM:609053
HP:0031072	Abnormal endocrine physiology	9915	ARNT2	OMIM:615926
HP:0031072	Abnormal endocrine physiology	10908	PNPLA6	OMIM:275400
HP:0031072	Abnormal endocrine physiology	2693	GHSR	OMIM:615925
HP:0031072	Abnormal endocrine physiology	134218	DNAJC21	ORPHA:811
HP:0031072	Abnormal endocrine physiology	79631	EFL1	ORPHA:811
HP:0031072	Abnormal endocrine physiology	51119	SBDS	ORPHA:811
HP:0031072	Abnormal endocrine physiology	6729	SRP54	ORPHA:811
HP:0031072	Abnormal endocrine physiology	2188	FANCF	OMIM:603467
HP:0031072	Abnormal endocrine physiology	6638	SNRPN	ORPHA:177904
HP:0031072	Abnormal endocrine physiology	6638	SNRPN	ORPHA:177901
HP:0031072	Abnormal endocrine physiology	6638	SNRPN	ORPHA:177907
HP:0031072	Abnormal endocrine physiology	6638	SNRPN	ORPHA:98754
HP:0031072	Abnormal endocrine physiology	4692	NDN	ORPHA:177904
HP:0031072	Abnormal endocrine physiology	4692	NDN	ORPHA:177901
HP:0031072	Abnormal endocrine physiology	4692	NDN	ORPHA:98754
HP:0031072	Abnormal endocrine physiology	4948	OCA2	ORPHA:177904
HP:0031072	Abnormal endocrine physiology	4948	OCA2	ORPHA:177901
HP:0031072	Abnormal endocrine physiology	4948	OCA2	ORPHA:98754
HP:0031072	Abnormal endocrine physiology	6777	STAT5B	OMIM:245590
HP:0031072	Abnormal endocrine physiology	284058	KANSL1	ORPHA:363958
HP:0031072	Abnormal endocrine physiology	284058	KANSL1	ORPHA:363965
HP:0031072	Abnormal endocrine physiology	2688	GH1	OMIM:612781
HP:0031072	Abnormal endocrine physiology	2688	GH1	OMIM:173100
HP:0031072	Abnormal endocrine physiology	9581	PREPL	OMIM:616224
HP:0031072	Abnormal endocrine physiology	55699	IARS2	ORPHA:436174
HP:0031072	Abnormal endocrine physiology	55699	IARS2	OMIM:616007
HP:0031072	Abnormal endocrine physiology	3953	LEPR	OMIM:614963
HP:0031072	Abnormal endocrine physiology	2917	GRM7	OMIM:618922
HP:0031072	Abnormal endocrine physiology	79184	BRCC3	ORPHA:280679
HP:0031072	Abnormal endocrine physiology	5308	PITX2	OMIM:180500
HP:0031072	Abnormal endocrine physiology	7840	ALMS1	OMIM:203800
HP:0031072	Abnormal endocrine physiology	7840	ALMS1	ORPHA:64
HP:0031072	Abnormal endocrine physiology	3481	IGF2	OMIM:180860
HP:0031072	Abnormal endocrine physiology	157680	VPS13B	OMIM:216550
HP:0031072	Abnormal endocrine physiology	25942	SIN3A	ORPHA:94065
HP:0031072	Abnormal endocrine physiology	25942	SIN3A	OMIM:613406
HP:0031072	Abnormal endocrine physiology	5718	PSMD12	ORPHA:529962
HP:0031072	Abnormal endocrine physiology	2186	BPTF	ORPHA:529962
HP:0031072	Abnormal endocrine physiology	4297	KMT2A	ORPHA:319182
HP:0031072	Abnormal endocrine physiology	93627	TBCK	ORPHA:488632
HP:0031072	Abnormal endocrine physiology	28514	DLL1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	28514	DLL1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	28514	DLL1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	28514	DLL1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	2253	FGF8	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	2253	FGF8	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	2253	FGF8	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	2253	FGF8	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	6496	SIX3	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	6496	SIX3	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	6496	SIX3	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	6496	SIX3	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	7050	TGIF1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	7050	TGIF1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	7050	TGIF1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	7050	TGIF1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	4838	NODAL	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	4838	NODAL	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	4838	NODAL	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	4838	NODAL	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	6469	SHH	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	6469	SHH	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	6469	SHH	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	6469	SHH	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	6469	SHH	OMIM:147250
HP:0031072	Abnormal endocrine physiology	7546	ZIC2	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	7546	ZIC2	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	7546	ZIC2	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	7546	ZIC2	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	6491	STIL	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	6491	STIL	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	6491	STIL	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	6491	STIL	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	2619	GAS1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	2619	GAS1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	2619	GAS1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	2619	GAS1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	84976	DISP1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	84976	DISP1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	84976	DISP1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	84976	DISP1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	2736	GLI2	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	2736	GLI2	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	2736	GLI2	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	2736	GLI2	OMIM:610829
HP:0031072	Abnormal endocrine physiology	2736	GLI2	ORPHA:95494
HP:0031072	Abnormal endocrine physiology	2736	GLI2	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	8928	FOXH1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	8928	FOXH1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	8928	FOXH1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	8928	FOXH1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	5727	PTCH1	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	5727	PTCH1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	5727	PTCH1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	5727	PTCH1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	50937	CDON	ORPHA:93926
HP:0031072	Abnormal endocrine physiology	50937	CDON	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	50937	CDON	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	50937	CDON	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	55636	CHD7	OMIM:214800
HP:0031072	Abnormal endocrine physiology	2783	GNB2	OMIM:619503
HP:0031072	Abnormal endocrine physiology	2260	FGFR1	ORPHA:93924
HP:0031072	Abnormal endocrine physiology	2260	FGFR1	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	1028	CDKN1C	OMIM:614732
HP:0031072	Abnormal endocrine physiology	23007	PLCH1	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	10735	STAG2	ORPHA:93925
HP:0031072	Abnormal endocrine physiology	10735	STAG2	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	57187	THOC2	ORPHA:457240
HP:0031072	Abnormal endocrine physiology	54	ACP5	ORPHA:1855
HP:0031072	Abnormal endocrine physiology	9056	SLC7A7	ORPHA:470
HP:0031072	Abnormal endocrine physiology	84265	POLR3GL	OMIM:619234
HP:0031072	Abnormal endocrine physiology	9851	KIAA0753	OMIM:619476
HP:0031072	Abnormal endocrine physiology	6905	TBCE	OMIM:241410
HP:0031072	Abnormal endocrine physiology	80067	DCAF17	ORPHA:3464
HP:0031072	Abnormal endocrine physiology	54499	TMCO1	OMIM:213980
HP:0031072	Abnormal endocrine physiology	2887	GRB10	ORPHA:96182
HP:0031072	Abnormal endocrine physiology	3170	FOXA2	ORPHA:95494
HP:0031072	Abnormal endocrine physiology	5015	OTX2	ORPHA:95494
HP:0031072	Abnormal endocrine physiology	5605	MAP2K2	OMIM:615280
HP:0031072	Abnormal endocrine physiology	8567	MADD	OMIM:619004
HP:0031072	Abnormal endocrine physiology	9702	CEP57	OMIM:614114
HP:0031072	Abnormal endocrine physiology	11128	POLR3A	ORPHA:3455
HP:0031072	Abnormal endocrine physiology	5456	POU3F4	ORPHA:1435
HP:0031072	Abnormal endocrine physiology	55599	RNPC3	OMIM:618160
HP:0031072	Abnormal endocrine physiology	9897	WASHC5	OMIM:220210
HP:0031072	Abnormal endocrine physiology	23247	KATNIP	OMIM:616784
HP:0031072	Abnormal endocrine physiology	8243	SMC1A	ORPHA:220386
HP:0031072	Abnormal endocrine physiology	2317	FLNB	ORPHA:1263
HP:0031072	Abnormal endocrine physiology	695	BTK	OMIM:307200
HP:0031072	Abnormal endocrine physiology	9526	MPDU1	ORPHA:79323
HP:0031072	Abnormal endocrine physiology	5144	PDE4D	ORPHA:280651
HP:0031072	Abnormal endocrine physiology	1513	CTSK	ORPHA:763
HP:0031072	Abnormal endocrine physiology	79644	SRD5A3	ORPHA:324737
HP:0031072	Abnormal endocrine physiology	1968	EIF2S3	OMIM:300148
HP:0031072	Abnormal endocrine physiology	5426	POLE	OMIM:618336
HP:0031072	Abnormal endocrine physiology	51053	GMNN	OMIM:616835
HP:0031072	Abnormal endocrine physiology	6664	SOX11	OMIM:615866
HP:0031072	Abnormal endocrine physiology	7080	NKX2-1	OMIM:610978
HP:0031072	Abnormal endocrine physiology	157570	ESCO2	OMIM:216100
HP:0031072	Abnormal endocrine physiology	64072	CDH23	ORPHA:91347
HP:0031072	Abnormal endocrine physiology	64072	CDH23	ORPHA:2965
HP:0031072	Abnormal endocrine physiology	2737	GLI3	ORPHA:672
HP:0031072	Abnormal endocrine physiology	4221	MEN1	ORPHA:2965
HP:0031072	Abnormal endocrine physiology	9049	AIP	ORPHA:2965
HP:0031072	Abnormal endocrine physiology	8314	BAP1	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	4771	NF2	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	6598	SMARCB1	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	5155	PDGFB	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	84231	TRAF7	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	6608	SMO	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	207	AKT1	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	5290	PIK3CA	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	7015	TERT	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	51684	SUFU	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	6605	SMARCE1	ORPHA:2495
HP:0031072	Abnormal endocrine physiology	4808	NHLH2	OMIM:619755
HP:0031072	Abnormal endocrine physiology	389549	FEZF1	OMIM:616030
HP:0031072	Abnormal endocrine physiology	2778	GNAS	ORPHA:562
HP:0031072	Abnormal endocrine physiology	4791	NFKB2	OMIM:615577
HP:0031072	Abnormal endocrine physiology	10587	TXNRD2	OMIM:617825
HP:0031072	Abnormal endocrine physiology	55131	RBM28	ORPHA:157954
HP:0031072	Abnormal endocrine physiology	4158	MC2R	OMIM:202200
HP:0031072	Abnormal endocrine physiology	1586	CYP17A1	ORPHA:90793
HP:0031072	Abnormal endocrine physiology	56246	MRAP	ORPHA:361
HP:0031072	Abnormal endocrine physiology	6770	STAR	ORPHA:361
HP:0031072	Abnormal endocrine physiology	23530	NNT	ORPHA:361
HP:0031072	Abnormal endocrine physiology	79798	ARMC5	ORPHA:189427
HP:0031072	Abnormal endocrine physiology	3284	HSD3B2	OMIM:201810
HP:0031072	Abnormal endocrine physiology	2692	GHRHR	OMIM:618157
HP:0031072	Abnormal endocrine physiology	9968	MED12	OMIM:301068
HP:0031072	Abnormal endocrine physiology	5447	POR	ORPHA:95699
HP:0031072	Abnormal endocrine physiology	3767	KCNJ11	ORPHA:276580
HP:0031072	Abnormal endocrine physiology	7351	UCP2	ORPHA:276556
HP:0031072	Abnormal endocrine physiology	6927	HNF1A	ORPHA:324575
HP:0031072	Abnormal endocrine physiology	6833	ABCC8	ORPHA:276575
HP:0031072	Abnormal endocrine physiology	5626	PROP1	ORPHA:226307
HP:0031072	Abnormal endocrine physiology	89884	LHX4	ORPHA:226307
HP:0031072	Abnormal endocrine physiology	8022	LHX3	ORPHA:226307
HP:0031072	Abnormal endocrine physiology	5449	POU1F1	ORPHA:226307
HP:0031072	Abnormal endocrine physiology	8820	HESX1	ORPHA:226307
HP:0031072	Abnormal endocrine physiology	5498	PPOX	ORPHA:79473
HP:0031072	Abnormal endocrine physiology	7841	MOGS	ORPHA:79330
HP:0031072	Abnormal endocrine physiology	3431	SP110	ORPHA:79124
HP:0031072	Abnormal endocrine physiology	5443	POMC	OMIM:609734
HP:0031072	Abnormal endocrine physiology	5573	PRKAR1A	OMIM:101800
HP:0031073	Abnormal response to endocrine stimulation test	7528	YY1	ORPHA:506358
HP:0031073	Abnormal response to endocrine stimulation test	6909	TBX2	OMIM:618223
HP:0031073	Abnormal response to endocrine stimulation test	1859	DYRK1A	ORPHA:268261
HP:0031073	Abnormal response to endocrine stimulation test	5122	PCSK1	ORPHA:71528
HP:0031073	Abnormal response to endocrine stimulation test	23394	ADNP	OMIM:615873
HP:0031073	Abnormal response to endocrine stimulation test	10785	WDR4	OMIM:618347
HP:0031073	Abnormal response to endocrine stimulation test	22800	RRAS2	OMIM:618624
HP:0031073	Abnormal response to endocrine stimulation test	8675	STX16	ORPHA:94089
HP:0031073	Abnormal response to endocrine stimulation test	8626	TP63	OMIM:604292
HP:0031073	Abnormal response to endocrine stimulation test	8626	TP63	ORPHA:1896
HP:0031073	Abnormal response to endocrine stimulation test	7681	MKRN3	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	3653	IPW	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	54551	MAGEL2	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	54551	MAGEL2	ORPHA:177904
HP:0031073	Abnormal response to endocrine stimulation test	54551	MAGEL2	ORPHA:177901
HP:0031073	Abnormal response to endocrine stimulation test	54551	MAGEL2	ORPHA:98754
HP:0031073	Abnormal response to endocrine stimulation test	791114	PWRN1	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	100033413	SNORD116-1	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	8924	HERC2	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	145624	PWAR1	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	23742	NPAP1	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	338433	SNORD115-1	OMIM:176270
HP:0031073	Abnormal response to endocrine stimulation test	91147	TMEM67	OMIM:602152
HP:0031073	Abnormal response to endocrine stimulation test	27125	AFF4	ORPHA:444077
HP:0031073	Abnormal response to endocrine stimulation test	55315	SLC29A3	OMIM:602782
HP:0031073	Abnormal response to endocrine stimulation test	7707	ZNF148	OMIM:617260
HP:0031073	Abnormal response to endocrine stimulation test	6658	SOX3	OMIM:300123
HP:0031073	Abnormal response to endocrine stimulation test	6658	SOX3	ORPHA:67045
HP:0031073	Abnormal response to endocrine stimulation test	6658	SOX3	ORPHA:90695
HP:0031073	Abnormal response to endocrine stimulation test	55159	RFWD3	OMIM:617784
HP:0031073	Abnormal response to endocrine stimulation test	113179	ADAT3	ORPHA:363528
HP:0031073	Abnormal response to endocrine stimulation test	113179	ADAT3	OMIM:615286
HP:0031073	Abnormal response to endocrine stimulation test	55215	FANCI	OMIM:609053
HP:0031073	Abnormal response to endocrine stimulation test	9915	ARNT2	OMIM:615926
HP:0031073	Abnormal response to endocrine stimulation test	10908	PNPLA6	OMIM:275400
HP:0031073	Abnormal response to endocrine stimulation test	2693	GHSR	OMIM:615925
HP:0031073	Abnormal response to endocrine stimulation test	134218	DNAJC21	ORPHA:811
HP:0031073	Abnormal response to endocrine stimulation test	79631	EFL1	ORPHA:811
HP:0031073	Abnormal response to endocrine stimulation test	51119	SBDS	ORPHA:811
HP:0031073	Abnormal response to endocrine stimulation test	6729	SRP54	ORPHA:811
HP:0031073	Abnormal response to endocrine stimulation test	2188	FANCF	OMIM:603467
HP:0031073	Abnormal response to endocrine stimulation test	6638	SNRPN	ORPHA:177904
HP:0031073	Abnormal response to endocrine stimulation test	6638	SNRPN	ORPHA:177901
HP:0031073	Abnormal response to endocrine stimulation test	6638	SNRPN	ORPHA:177907
HP:0031073	Abnormal response to endocrine stimulation test	6638	SNRPN	ORPHA:98754
HP:0031073	Abnormal response to endocrine stimulation test	4692	NDN	ORPHA:177904
HP:0031073	Abnormal response to endocrine stimulation test	4692	NDN	ORPHA:177901
HP:0031073	Abnormal response to endocrine stimulation test	4692	NDN	ORPHA:98754
HP:0031073	Abnormal response to endocrine stimulation test	4948	OCA2	ORPHA:177904
HP:0031073	Abnormal response to endocrine stimulation test	4948	OCA2	ORPHA:177901
HP:0031073	Abnormal response to endocrine stimulation test	4948	OCA2	ORPHA:98754
HP:0031073	Abnormal response to endocrine stimulation test	6777	STAT5B	OMIM:245590
HP:0031073	Abnormal response to endocrine stimulation test	284058	KANSL1	ORPHA:363958
HP:0031073	Abnormal response to endocrine stimulation test	284058	KANSL1	ORPHA:363965
HP:0031073	Abnormal response to endocrine stimulation test	2688	GH1	OMIM:612781
HP:0031073	Abnormal response to endocrine stimulation test	2688	GH1	OMIM:173100
HP:0031073	Abnormal response to endocrine stimulation test	9581	PREPL	OMIM:616224
HP:0031073	Abnormal response to endocrine stimulation test	55699	IARS2	ORPHA:436174
HP:0031073	Abnormal response to endocrine stimulation test	55699	IARS2	OMIM:616007
HP:0031073	Abnormal response to endocrine stimulation test	3953	LEPR	OMIM:614963
HP:0031073	Abnormal response to endocrine stimulation test	2917	GRM7	OMIM:618922
HP:0031073	Abnormal response to endocrine stimulation test	79184	BRCC3	ORPHA:280679
HP:0031073	Abnormal response to endocrine stimulation test	5308	PITX2	OMIM:180500
HP:0031073	Abnormal response to endocrine stimulation test	7840	ALMS1	OMIM:203800
HP:0031073	Abnormal response to endocrine stimulation test	7840	ALMS1	ORPHA:64
HP:0031073	Abnormal response to endocrine stimulation test	3481	IGF2	OMIM:180860
HP:0031073	Abnormal response to endocrine stimulation test	157680	VPS13B	OMIM:216550
HP:0031073	Abnormal response to endocrine stimulation test	25942	SIN3A	ORPHA:94065
HP:0031073	Abnormal response to endocrine stimulation test	25942	SIN3A	OMIM:613406
HP:0031073	Abnormal response to endocrine stimulation test	5718	PSMD12	ORPHA:529962
HP:0031073	Abnormal response to endocrine stimulation test	2186	BPTF	ORPHA:529962
HP:0031073	Abnormal response to endocrine stimulation test	4297	KMT2A	ORPHA:319182
HP:0031073	Abnormal response to endocrine stimulation test	93627	TBCK	ORPHA:488632
HP:0031073	Abnormal response to endocrine stimulation test	28514	DLL1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	28514	DLL1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	28514	DLL1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	28514	DLL1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	2253	FGF8	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	2253	FGF8	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	2253	FGF8	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	2253	FGF8	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	6496	SIX3	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	6496	SIX3	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	6496	SIX3	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	6496	SIX3	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	7050	TGIF1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	7050	TGIF1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	7050	TGIF1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	7050	TGIF1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	4838	NODAL	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	4838	NODAL	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	4838	NODAL	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	4838	NODAL	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	6469	SHH	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	6469	SHH	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	6469	SHH	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	6469	SHH	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	6469	SHH	OMIM:147250
HP:0031073	Abnormal response to endocrine stimulation test	7546	ZIC2	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	7546	ZIC2	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	7546	ZIC2	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	7546	ZIC2	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	6491	STIL	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	6491	STIL	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	6491	STIL	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	6491	STIL	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	2619	GAS1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	2619	GAS1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	2619	GAS1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	2619	GAS1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	84976	DISP1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	84976	DISP1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	84976	DISP1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	84976	DISP1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	OMIM:610829
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	ORPHA:95494
HP:0031073	Abnormal response to endocrine stimulation test	2736	GLI2	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	8928	FOXH1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	8928	FOXH1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	8928	FOXH1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	8928	FOXH1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	5727	PTCH1	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	5727	PTCH1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	5727	PTCH1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	5727	PTCH1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	50937	CDON	ORPHA:93926
HP:0031073	Abnormal response to endocrine stimulation test	50937	CDON	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	50937	CDON	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	50937	CDON	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	55636	CHD7	OMIM:214800
HP:0031073	Abnormal response to endocrine stimulation test	2783	GNB2	OMIM:619503
HP:0031073	Abnormal response to endocrine stimulation test	2260	FGFR1	ORPHA:93924
HP:0031073	Abnormal response to endocrine stimulation test	2260	FGFR1	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	1028	CDKN1C	OMIM:614732
HP:0031073	Abnormal response to endocrine stimulation test	23007	PLCH1	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	10735	STAG2	ORPHA:93925
HP:0031073	Abnormal response to endocrine stimulation test	10735	STAG2	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	57187	THOC2	ORPHA:457240
HP:0031073	Abnormal response to endocrine stimulation test	54	ACP5	ORPHA:1855
HP:0031073	Abnormal response to endocrine stimulation test	8820	HESX1	OMIM:182230
HP:0031073	Abnormal response to endocrine stimulation test	8820	HESX1	ORPHA:226307
HP:0031073	Abnormal response to endocrine stimulation test	8820	HESX1	ORPHA:95494
HP:0031073	Abnormal response to endocrine stimulation test	9056	SLC7A7	ORPHA:470
HP:0031073	Abnormal response to endocrine stimulation test	84265	POLR3GL	OMIM:619234
HP:0031073	Abnormal response to endocrine stimulation test	9851	KIAA0753	OMIM:619476
HP:0031073	Abnormal response to endocrine stimulation test	6905	TBCE	OMIM:241410
HP:0031073	Abnormal response to endocrine stimulation test	5626	PROP1	ORPHA:226307
HP:0031073	Abnormal response to endocrine stimulation test	5626	PROP1	ORPHA:95494
HP:0031073	Abnormal response to endocrine stimulation test	5626	PROP1	ORPHA:90695
HP:0031073	Abnormal response to endocrine stimulation test	8022	LHX3	ORPHA:226307
HP:0031073	Abnormal response to endocrine stimulation test	8022	LHX3	OMIM:221750
HP:0031073	Abnormal response to endocrine stimulation test	8022	LHX3	ORPHA:231720
HP:0031073	Abnormal response to endocrine stimulation test	80067	DCAF17	ORPHA:3464
HP:0031073	Abnormal response to endocrine stimulation test	54499	TMCO1	OMIM:213980
HP:0031073	Abnormal response to endocrine stimulation test	2887	GRB10	ORPHA:96182
HP:0031073	Abnormal response to endocrine stimulation test	3170	FOXA2	ORPHA:95494
HP:0031073	Abnormal response to endocrine stimulation test	5015	OTX2	ORPHA:95494
HP:0031073	Abnormal response to endocrine stimulation test	5605	MAP2K2	OMIM:615280
HP:0031073	Abnormal response to endocrine stimulation test	8567	MADD	OMIM:619004
HP:0031073	Abnormal response to endocrine stimulation test	9702	CEP57	OMIM:614114
HP:0031073	Abnormal response to endocrine stimulation test	11128	POLR3A	ORPHA:3455
HP:0031073	Abnormal response to endocrine stimulation test	5456	POU3F4	ORPHA:1435
HP:0031073	Abnormal response to endocrine stimulation test	55599	RNPC3	OMIM:618160
HP:0031073	Abnormal response to endocrine stimulation test	9897	WASHC5	OMIM:220210
HP:0031073	Abnormal response to endocrine stimulation test	23247	KATNIP	OMIM:616784
HP:0031073	Abnormal response to endocrine stimulation test	8243	SMC1A	ORPHA:220386
HP:0031073	Abnormal response to endocrine stimulation test	2317	FLNB	ORPHA:1263
HP:0031073	Abnormal response to endocrine stimulation test	695	BTK	OMIM:307200
HP:0031073	Abnormal response to endocrine stimulation test	9526	MPDU1	ORPHA:79323
HP:0031073	Abnormal response to endocrine stimulation test	5144	PDE4D	ORPHA:280651
HP:0031073	Abnormal response to endocrine stimulation test	1513	CTSK	ORPHA:763
HP:0031073	Abnormal response to endocrine stimulation test	79644	SRD5A3	ORPHA:324737
HP:0031073	Abnormal response to endocrine stimulation test	1968	EIF2S3	OMIM:300148
HP:0031073	Abnormal response to endocrine stimulation test	5426	POLE	OMIM:618336
HP:0031073	Abnormal response to endocrine stimulation test	51053	GMNN	OMIM:616835
HP:0031073	Abnormal response to endocrine stimulation test	6664	SOX11	OMIM:615866
HP:0031073	Abnormal response to endocrine stimulation test	7080	NKX2-1	OMIM:610978
HP:0031073	Abnormal response to endocrine stimulation test	157570	ESCO2	OMIM:216100
HP:0031073	Abnormal response to endocrine stimulation test	64072	CDH23	ORPHA:91347
HP:0031073	Abnormal response to endocrine stimulation test	64072	CDH23	ORPHA:2965
HP:0031073	Abnormal response to endocrine stimulation test	2737	GLI3	ORPHA:672
HP:0031073	Abnormal response to endocrine stimulation test	4221	MEN1	ORPHA:2965
HP:0031073	Abnormal response to endocrine stimulation test	9049	AIP	ORPHA:2965
HP:0031073	Abnormal response to endocrine stimulation test	8314	BAP1	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	4771	NF2	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	6598	SMARCB1	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	5155	PDGFB	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	84231	TRAF7	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	6608	SMO	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	207	AKT1	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	5290	PIK3CA	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	7015	TERT	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	51684	SUFU	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	6605	SMARCE1	ORPHA:2495
HP:0031073	Abnormal response to endocrine stimulation test	4808	NHLH2	OMIM:619755
HP:0031073	Abnormal response to endocrine stimulation test	389549	FEZF1	OMIM:616030
HP:0031073	Abnormal response to endocrine stimulation test	4791	NFKB2	OMIM:615577
HP:0031073	Abnormal response to endocrine stimulation test	10587	TXNRD2	OMIM:617825
HP:0031073	Abnormal response to endocrine stimulation test	55131	RBM28	ORPHA:157954
HP:0031073	Abnormal response to endocrine stimulation test	4158	MC2R	OMIM:202200
HP:0031073	Abnormal response to endocrine stimulation test	1586	CYP17A1	ORPHA:90793
HP:0031073	Abnormal response to endocrine stimulation test	56246	MRAP	ORPHA:361
HP:0031073	Abnormal response to endocrine stimulation test	6770	STAR	ORPHA:361
HP:0031073	Abnormal response to endocrine stimulation test	23530	NNT	ORPHA:361
HP:0031073	Abnormal response to endocrine stimulation test	79798	ARMC5	ORPHA:189427
HP:0031073	Abnormal response to endocrine stimulation test	2778	GNAS	ORPHA:189427
HP:0031073	Abnormal response to endocrine stimulation test	3284	HSD3B2	OMIM:201810
HP:0031073	Abnormal response to endocrine stimulation test	89884	LHX4	OMIM:262700
HP:0031073	Abnormal response to endocrine stimulation test	5449	POU1F1	OMIM:613038
HP:0031073	Abnormal response to endocrine stimulation test	2692	GHRHR	OMIM:618157
HP:0031073	Abnormal response to endocrine stimulation test	9968	MED12	OMIM:301068
HP:0031073	Abnormal response to endocrine stimulation test	5447	POR	ORPHA:95699
HP:0031073	Abnormal response to endocrine stimulation test	3767	KCNJ11	ORPHA:276580
HP:0031073	Abnormal response to endocrine stimulation test	7351	UCP2	ORPHA:276556
HP:0031073	Abnormal response to endocrine stimulation test	6927	HNF1A	ORPHA:324575
HP:0031073	Abnormal response to endocrine stimulation test	6833	ABCC8	ORPHA:276575
HP:0031073	Abnormal response to endocrine stimulation test	5443	POMC	OMIM:609734
HP:0031073	Abnormal response to endocrine stimulation test	5573	PRKAR1A	OMIM:101800
HP:0031074	Abnormal response to ACTH stimulation test	4791	NFKB2	OMIM:615577
HP:0031074	Abnormal response to ACTH stimulation test	10587	TXNRD2	OMIM:617825
HP:0031074	Abnormal response to ACTH stimulation test	55131	RBM28	ORPHA:157954
HP:0031074	Abnormal response to ACTH stimulation test	4158	MC2R	OMIM:202200
HP:0031074	Abnormal response to ACTH stimulation test	1586	CYP17A1	ORPHA:90793
HP:0031074	Abnormal response to ACTH stimulation test	5447	POR	ORPHA:95699
HP:0031075	Abnormal response to insulin tolerance test	56246	MRAP	ORPHA:361
HP:0031075	Abnormal response to insulin tolerance test	6770	STAR	ORPHA:361
HP:0031075	Abnormal response to insulin tolerance test	4158	MC2R	ORPHA:361
HP:0031075	Abnormal response to insulin tolerance test	23530	NNT	ORPHA:361
HP:0031075	Abnormal response to insulin tolerance test	10587	TXNRD2	ORPHA:361
HP:0031075	Abnormal response to insulin tolerance test	89884	LHX4	OMIM:262700
HP:0031075	Abnormal response to insulin tolerance test	5449	POU1F1	OMIM:613038
HP:0031075	Abnormal response to insulin tolerance test	2692	GHRHR	OMIM:618157
HP:0031076	Impaired cortisol response to insulin stimulation test	56246	MRAP	ORPHA:361
HP:0031076	Impaired cortisol response to insulin stimulation test	6770	STAR	ORPHA:361
HP:0031076	Impaired cortisol response to insulin stimulation test	4158	MC2R	ORPHA:361
HP:0031076	Impaired cortisol response to insulin stimulation test	23530	NNT	ORPHA:361
HP:0031076	Impaired cortisol response to insulin stimulation test	10587	TXNRD2	ORPHA:361
HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	79798	ARMC5	ORPHA:189427
HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	2778	GNAS	ORPHA:189427
HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	3284	HSD3B2	OMIM:201810
HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	3284	HSD3B2	OMIM:201810
HP:0031079	Impaired growth-hormone response to insulin stimulation test	89884	LHX4	OMIM:262700
HP:0031079	Impaired growth-hormone response to insulin stimulation test	5449	POU1F1	OMIM:613038
HP:0031079	Impaired growth-hormone response to insulin stimulation test	2692	GHRHR	OMIM:618157
HP:0005168	Elevated right atrial pressure	659	BMPR2	OMIM:178600
HP:0001714	Ventricular hypertrophy	6445	SGCG	ORPHA:353
HP:0001714	Ventricular hypertrophy	6445	SGCG	OMIM:253700
HP:0001714	Ventricular hypertrophy	57190	SELENON	ORPHA:324604
HP:0001714	Ventricular hypertrophy	2294	FOXF1	OMIM:265380
HP:0001714	Ventricular hypertrophy	137814	NKX2-6	ORPHA:3384
HP:0001714	Ventricular hypertrophy	23129	PLXND1	ORPHA:3384
HP:0001714	Ventricular hypertrophy	10617	STAMBP	OMIM:614261
HP:0001714	Ventricular hypertrophy	10526	IPO8	OMIM:619472
HP:0001714	Ventricular hypertrophy	79572	ATP13A3	OMIM:265400
HP:0001714	Ventricular hypertrophy	8425	LTBP4	OMIM:613177
HP:0001714	Ventricular hypertrophy	4851	NOTCH1	OMIM:616028
HP:0001714	Ventricular hypertrophy	6439	SFTPB	ORPHA:217563
HP:0001714	Ventricular hypertrophy	8085	KMT2D	OMIM:620186
HP:0001714	Ventricular hypertrophy	8604	SLC25A12	OMIM:612949
HP:0001714	Ventricular hypertrophy	8291	DYSF	ORPHA:268
HP:0001714	Ventricular hypertrophy	57538	ALPK3	OMIM:618052
HP:0001714	Ventricular hypertrophy	27031	NPHP3	OMIM:267010
HP:0001714	Ventricular hypertrophy	23556	PIGN	ORPHA:280633
HP:0001714	Ventricular hypertrophy	26276	VPS33B	OMIM:208085
HP:0001714	Ventricular hypertrophy	659	BMPR2	OMIM:178600
HP:0001714	Ventricular hypertrophy	8292	COLQ	ORPHA:98915
HP:0001714	Ventricular hypertrophy	3913	LAMB2	ORPHA:98915
HP:0001714	Ventricular hypertrophy	63894	VIPAS39	OMIM:613404
HP:0001714	Ventricular hypertrophy	2719	GPC3	OMIM:312870
HP:0001714	Ventricular hypertrophy	2239	GPC4	OMIM:312870
HP:0001714	Ventricular hypertrophy	4088	SMAD3	ORPHA:284984
HP:0001714	Ventricular hypertrophy	4088	SMAD3	OMIM:613795
HP:0001714	Ventricular hypertrophy	274	BIN1	ORPHA:169186
HP:0001714	Ventricular hypertrophy	10290	SPEG	ORPHA:169186
HP:0001714	Ventricular hypertrophy	6261	RYR1	ORPHA:169186
HP:0001714	Ventricular hypertrophy	7273	TTN	ORPHA:169186
HP:0001714	Ventricular hypertrophy	291	SLC25A4	ORPHA:254892
HP:0001714	Ventricular hypertrophy	291	SLC25A4	OMIM:615418
HP:0001714	Ventricular hypertrophy	5428	POLG	ORPHA:254892
HP:0001714	Ventricular hypertrophy	56652	TWNK	ORPHA:254892
HP:0001714	Ventricular hypertrophy	11232	POLG2	ORPHA:254892
HP:0001714	Ventricular hypertrophy	50484	RRM2B	ORPHA:254892
HP:0001714	Ventricular hypertrophy	10128	LRPPRC	OMIM:220111
HP:0001714	Ventricular hypertrophy	8216	LZTR1	OMIM:616564
HP:0001714	Ventricular hypertrophy	6331	SCN5A	OMIM:614022
HP:0001714	Ventricular hypertrophy	5663	PSEN1	OMIM:613694
HP:0001714	Ventricular hypertrophy	6016	RIT1	OMIM:615355
HP:0001714	Ventricular hypertrophy	5664	PSEN2	OMIM:613697
HP:0001714	Ventricular hypertrophy	19	ABCA1	OMIM:205400
HP:0001714	Ventricular hypertrophy	19	ABCA1	ORPHA:31150
HP:0001714	Ventricular hypertrophy	57539	WDR35	OMIM:613610
HP:0001714	Ventricular hypertrophy	2997	GYS1	OMIM:611556
HP:0001714	Ventricular hypertrophy	4720	NDUFS2	OMIM:618228
HP:0001714	Ventricular hypertrophy	1482	NKX2-5	OMIM:108900
HP:0001714	Ventricular hypertrophy	51343	FZR1	OMIM:620145
HP:0001714	Ventricular hypertrophy	10159	ATP6AP2	ORPHA:93952
HP:0001714	Ventricular hypertrophy	6840	SVIL	OMIM:619040
HP:0001714	Ventricular hypertrophy	10021	HCN4	OMIM:163800
HP:0001714	Ventricular hypertrophy	51218	GLRX5	ORPHA:401866
HP:0001714	Ventricular hypertrophy	1837	DTNA	OMIM:604169
HP:0001714	Ventricular hypertrophy	6341	SCO1	OMIM:619048
HP:0001714	Ventricular hypertrophy	1278	COL1A2	ORPHA:230851
HP:0001714	Ventricular hypertrophy	83715	ESPN	OMIM:618632
HP:0001714	Ventricular hypertrophy	70	ACTC1	OMIM:612098
HP:0001714	Ventricular hypertrophy	70	ACTC1	OMIM:613424
HP:0001714	Ventricular hypertrophy	6392	SDHD	OMIM:619167
HP:0001714	Ventricular hypertrophy	6392	SDHD	ORPHA:3208
HP:0001714	Ventricular hypertrophy	10229	COQ7	OMIM:616733
HP:0001714	Ventricular hypertrophy	84665	MYPN	OMIM:615248
HP:0001714	Ventricular hypertrophy	54931	TRMT10C	OMIM:616974
HP:0001714	Ventricular hypertrophy	9382	COG1	OMIM:611209
HP:0001714	Ventricular hypertrophy	6868	ADAM17	ORPHA:294023
HP:0001714	Ventricular hypertrophy	1956	EGFR	ORPHA:294023
HP:0001714	Ventricular hypertrophy	79158	GNPTAB	ORPHA:576
HP:0001714	Ventricular hypertrophy	4512	MT-CO1	OMIM:540000
HP:0001714	Ventricular hypertrophy	4513	MT-CO2	OMIM:540000
HP:0001714	Ventricular hypertrophy	4514	MT-CO3	OMIM:540000
HP:0001714	Ventricular hypertrophy	4519	MT-CYB	OMIM:540000
HP:0001714	Ventricular hypertrophy	4511	MT-TC	OMIM:540000
HP:0001714	Ventricular hypertrophy	4574	MT-TS1	OMIM:540000
HP:0001714	Ventricular hypertrophy	4575	MT-TS2	OMIM:540000
HP:0001714	Ventricular hypertrophy	4558	MT-TF	OMIM:540000
HP:0001714	Ventricular hypertrophy	4541	MT-ND6	OMIM:540000
HP:0001714	Ventricular hypertrophy	4567	MT-TL1	OMIM:540000
HP:0001714	Ventricular hypertrophy	4540	MT-ND5	OMIM:540000
HP:0001714	Ventricular hypertrophy	4566	MT-TK	OMIM:540000
HP:0001714	Ventricular hypertrophy	4535	MT-ND1	OMIM:540000
HP:0001714	Ventricular hypertrophy	4572	MT-TQ	OMIM:540000
HP:0001714	Ventricular hypertrophy	4577	MT-TV	OMIM:540000
HP:0001714	Ventricular hypertrophy	4578	MT-TW	OMIM:540000
HP:0001714	Ventricular hypertrophy	153642	ARSK	OMIM:619698
HP:0001714	Ventricular hypertrophy	57158	JPH2	OMIM:613873
HP:0001714	Ventricular hypertrophy	5350	PLN	OMIM:613874
HP:0001714	Ventricular hypertrophy	84100	ARL6	OMIM:209900
HP:0001714	Ventricular hypertrophy	79140	CCDC28B	OMIM:209900
HP:0001714	Ventricular hypertrophy	582	BBS1	OMIM:209900
HP:0001714	Ventricular hypertrophy	708	C1QBP	OMIM:617713
HP:0001714	Ventricular hypertrophy	91624	NEXN	OMIM:613876
HP:0001714	Ventricular hypertrophy	1201	CLN3	ORPHA:228346
HP:0001714	Ventricular hypertrophy	4634	MYL3	OMIM:608751
HP:0001714	Ventricular hypertrophy	2717	GLA	ORPHA:324
HP:0001714	Ventricular hypertrophy	2717	GLA	OMIM:301500
HP:0001714	Ventricular hypertrophy	3291	HSD11B2	ORPHA:320
HP:0001714	Ventricular hypertrophy	4015	LOX	OMIM:617168
HP:0001714	Ventricular hypertrophy	88	ACTN2	OMIM:612158
HP:0001714	Ventricular hypertrophy	27010	TPK1	OMIM:614458
HP:0001714	Ventricular hypertrophy	7092	TLL1	ORPHA:99106
HP:0001714	Ventricular hypertrophy	51241	COX16	OMIM:619355
HP:0001714	Ventricular hypertrophy	4624	MYH6	OMIM:613251
HP:0001714	Ventricular hypertrophy	4878	NPPA	OMIM:612201
HP:0001714	Ventricular hypertrophy	29957	SLC25A24	OMIM:612289
HP:0001714	Ventricular hypertrophy	8557	TCAP	OMIM:607487
HP:0001714	Ventricular hypertrophy	3032	HADHB	ORPHA:746
HP:0001714	Ventricular hypertrophy	3030	HADHA	ORPHA:746
HP:0001714	Ventricular hypertrophy	9049	AIP	OMIM:102200
HP:0001714	Ventricular hypertrophy	9049	AIP	ORPHA:99725
HP:0001714	Ventricular hypertrophy	100147744	RNU7-1	OMIM:619487
HP:0001714	Ventricular hypertrophy	2548	GAA	ORPHA:308552
HP:0001714	Ventricular hypertrophy	10585	POMT1	ORPHA:86812
HP:0001714	Ventricular hypertrophy	10651	MTX2	OMIM:619127
HP:0001714	Ventricular hypertrophy	7276	TTR	ORPHA:85451
HP:0001714	Ventricular hypertrophy	7841	MOGS	ORPHA:79330
HP:0001714	Ventricular hypertrophy	4221	MEN1	ORPHA:99725
HP:0001714	Ventricular hypertrophy	11155	LDB3	OMIM:601493
HP:0001714	Ventricular hypertrophy	7139	TNNT2	OMIM:601494
HP:0001714	Ventricular hypertrophy	2273	FHL1	OMIM:300280
HP:0001714	Ventricular hypertrophy	57724	EPG5	OMIM:242840
HP:0001714	Ventricular hypertrophy	4841	NONO	ORPHA:466791
HP:0001714	Ventricular hypertrophy	55739	NAXD	OMIM:618321
HP:0001714	Ventricular hypertrophy	7137	TNNI3	OMIM:115210
HP:0001714	Ventricular hypertrophy	79147	FKRP	OMIM:613153
HP:0001714	Ventricular hypertrophy	29954	POMT2	OMIM:613156
HP:0001714	Ventricular hypertrophy	6389	SDHA	ORPHA:3208
HP:0001714	Ventricular hypertrophy	6390	SDHB	ORPHA:3208
HP:0001714	Ventricular hypertrophy	644096	SDHAF1	ORPHA:3208
HP:0001714	Ventricular hypertrophy	51778	MYOZ2	OMIM:613838
HP:0001714	Ventricular hypertrophy	9469	CHST3	OMIM:245600
HP:0001714	Ventricular hypertrophy	26229	B3GAT3	OMIM:245600
HP:0001714	Ventricular hypertrophy	57017	COQ9	OMIM:614654
HP:0001714	Ventricular hypertrophy	57592	ZNF687	OMIM:616833
HP:0001714	Ventricular hypertrophy	1756	DMD	ORPHA:206546
HP:0001714	Ventricular hypertrophy	3762	KCNJ5	ORPHA:251274
HP:0001714	Ventricular hypertrophy	58499	ZNF462	OMIM:618619
HP:0001714	Ventricular hypertrophy	84705	GTPBP3	ORPHA:444013
HP:0001714	Ventricular hypertrophy	1340	COX6B1	OMIM:619051
HP:0001714	Ventricular hypertrophy	51322	WAC	ORPHA:284169
HP:0001714	Ventricular hypertrophy	6444	SGCD	OMIM:601287
HP:0001714	Ventricular hypertrophy	286053	NSMCE2	OMIM:617253
HP:0001714	Ventricular hypertrophy	81031	SLC2A10	OMIM:208050
HP:0001714	Ventricular hypertrophy	4607	MYBPC3	OMIM:115197
HP:0001714	Ventricular hypertrophy	5167	ENPP1	ORPHA:51608
HP:0001714	Ventricular hypertrophy	368	ABCC6	ORPHA:51608
HP:0001714	Ventricular hypertrophy	178	AGL	OMIM:232400
HP:0001714	Ventricular hypertrophy	6125	RPL5	OMIM:612561
HP:0001714	Ventricular hypertrophy	788	SLC25A20	OMIM:212138
HP:0001714	Ventricular hypertrophy	4087	SMAD2	OMIM:619656
HP:0001714	Ventricular hypertrophy	1376	CPT2	ORPHA:228305
HP:0001714	Ventricular hypertrophy	4000	LMNA	ORPHA:740
HP:0001714	Ventricular hypertrophy	4000	LMNA	ORPHA:363618
HP:0001714	Ventricular hypertrophy	10269	ZMPSTE24	ORPHA:740
HP:0001714	Ventricular hypertrophy	1349	COX7B	OMIM:300887
HP:0001714	Ventricular hypertrophy	374354	NHLRC2	OMIM:618278
HP:0001714	Ventricular hypertrophy	2992	GYG1	ORPHA:263297
HP:0001714	Ventricular hypertrophy	64127	NOD2	OMIM:617321
HP:0001714	Ventricular hypertrophy	83550	GPR101	OMIM:300942
HP:0001714	Ventricular hypertrophy	10060	ABCC9	OMIM:239850
HP:0001714	Ventricular hypertrophy	745	MYRF	OMIM:618280
HP:0001714	Ventricular hypertrophy	6888	TALDO1	ORPHA:101028
HP:0001714	Ventricular hypertrophy	51422	PRKAG2	OMIM:261740
HP:0001714	Ventricular hypertrophy	126328	NDUFA11	OMIM:618236
HP:0001714	Ventricular hypertrophy	4633	MYL2	OMIM:619424
HP:0001714	Ventricular hypertrophy	776	CACNA1D	OMIM:615474
HP:0001714	Ventricular hypertrophy	50619	DEF6	OMIM:619573
HP:0001714	Ventricular hypertrophy	7134	TNNC1	OMIM:613243
HP:0001714	Ventricular hypertrophy	529	ATP6V1E1	OMIM:617402
HP:0001714	Ventricular hypertrophy	4625	MYH7	OMIM:255160
HP:0001714	Ventricular hypertrophy	79087	ALG12	ORPHA:79324
HP:0001663	Ventricular fibrillation	6331	SCN5A	OMIM:601144
HP:0001663	Ventricular fibrillation	6331	SCN5A	ORPHA:130
HP:0001663	Ventricular fibrillation	6331	SCN5A	OMIM:603829
HP:0001663	Ventricular fibrillation	6331	SCN5A	OMIM:603830
HP:0001663	Ventricular fibrillation	23630	KCNE5	ORPHA:130
HP:0001663	Ventricular fibrillation	10371	SEMA3A	ORPHA:130
HP:0001663	Ventricular fibrillation	54795	TRPM4	ORPHA:130
HP:0001663	Ventricular fibrillation	10021	HCN4	ORPHA:130
HP:0001663	Ventricular fibrillation	10021	HCN4	OMIM:163800
HP:0001663	Ventricular fibrillation	3764	KCNJ8	ORPHA:130
HP:0001663	Ventricular fibrillation	3752	KCND3	ORPHA:130
HP:0001663	Ventricular fibrillation	5318	PKP2	ORPHA:130
HP:0001663	Ventricular fibrillation	7871	SLMAP	ORPHA:130
HP:0001663	Ventricular fibrillation	10060	ABCC9	ORPHA:130
HP:0001663	Ventricular fibrillation	29098	RANGRF	ORPHA:130
HP:0001663	Ventricular fibrillation	6336	SCN10A	ORPHA:130
HP:0001663	Ventricular fibrillation	10008	KCNE3	ORPHA:130
HP:0001663	Ventricular fibrillation	10008	KCNE3	OMIM:613119
HP:0001663	Ventricular fibrillation	55800	SCN3B	ORPHA:130
HP:0001663	Ventricular fibrillation	10142	AKAP9	ORPHA:130
HP:0001663	Ventricular fibrillation	783	CACNB2	ORPHA:130
HP:0001663	Ventricular fibrillation	6337	SCNN1A	ORPHA:130
HP:0001663	Ventricular fibrillation	6327	SCN2B	ORPHA:130
HP:0001663	Ventricular fibrillation	781	CACNA2D1	ORPHA:130
HP:0001663	Ventricular fibrillation	781	CACNA2D1	ORPHA:51083
HP:0001663	Ventricular fibrillation	775	CACNA1C	ORPHA:130
HP:0001663	Ventricular fibrillation	775	CACNA1C	OMIM:618447
HP:0001663	Ventricular fibrillation	6324	SCN1B	ORPHA:130
HP:0001663	Ventricular fibrillation	6324	SCN1B	OMIM:612838
HP:0001663	Ventricular fibrillation	23171	GPD1L	ORPHA:130
HP:0001663	Ventricular fibrillation	23171	GPD1L	OMIM:611777
HP:0001663	Ventricular fibrillation	4633	MYL2	OMIM:608758
HP:0001663	Ventricular fibrillation	51422	PRKAG2	OMIM:261740
HP:0001663	Ventricular fibrillation	4607	MYBPC3	OMIM:115197
HP:0001663	Ventricular fibrillation	9992	KCNE2	OMIM:613693
HP:0001663	Ventricular fibrillation	54539	NDUFB11	OMIM:300952
HP:0001663	Ventricular fibrillation	253017	TECRL	OMIM:614021
HP:0001663	Ventricular fibrillation	805	CALM2	OMIM:616249
HP:0001663	Ventricular fibrillation	3753	KCNE1	OMIM:613695
HP:0001663	Ventricular fibrillation	3753	KCNE1	ORPHA:90647
HP:0001663	Ventricular fibrillation	801	CALM1	OMIM:616247
HP:0001663	Ventricular fibrillation	801	CALM1	OMIM:614916
HP:0001663	Ventricular fibrillation	3784	KCNQ1	ORPHA:90647
HP:0001663	Ventricular fibrillation	3784	KCNQ1	OMIM:609621
HP:0001663	Ventricular fibrillation	3784	KCNQ1	OMIM:192500
HP:0001663	Ventricular fibrillation	3784	KCNQ1	ORPHA:51083
HP:0001663	Ventricular fibrillation	4634	MYL3	OMIM:608751
HP:0001663	Ventricular fibrillation	100134444	KCNJ18	ORPHA:79102
HP:0001663	Ventricular fibrillation	2556	GABRA3	ORPHA:79102
HP:0001663	Ventricular fibrillation	779	CACNA1S	ORPHA:79102
HP:0001663	Ventricular fibrillation	37	ACADVL	ORPHA:26793
HP:0001663	Ventricular fibrillation	1717	DHCR7	OMIM:270400
HP:0001663	Ventricular fibrillation	6262	RYR2	OMIM:115000
HP:0001663	Ventricular fibrillation	2992	GYG1	ORPHA:263297
HP:0001663	Ventricular fibrillation	2992	GYG1	OMIM:613507
HP:0001663	Ventricular fibrillation	70	ACTC1	OMIM:612098
HP:0001663	Ventricular fibrillation	7134	TNNC1	OMIM:613243
HP:0001663	Ventricular fibrillation	144245	ALG10B	OMIM:613688
HP:0001663	Ventricular fibrillation	3757	KCNH2	OMIM:613688
HP:0001663	Ventricular fibrillation	3757	KCNH2	ORPHA:51083
HP:0001663	Ventricular fibrillation	128989	TANGO2	OMIM:616878
HP:0001663	Ventricular fibrillation	9529	BAG5	OMIM:619747
HP:0001663	Ventricular fibrillation	6640	SNTA1	OMIM:612955
HP:0001663	Ventricular fibrillation	3759	KCNJ2	ORPHA:51083
HP:0001663	Ventricular fibrillation	6508	SLC4A3	ORPHA:51083
HP:0001663	Ventricular fibrillation	6508	SLC4A3	OMIM:620231
HP:0001663	Ventricular fibrillation	1804	DPP6	OMIM:612956
HP:0001663	Ventricular fibrillation	1188	CLCNKB	ORPHA:358
HP:0001663	Ventricular fibrillation	6559	SLC12A3	ORPHA:358
HP:0001663	Ventricular fibrillation	1832	DSP	OMIM:607450
HP:0005165	Shortened PR interval	54795	TRPM4	OMIM:604559
HP:0005165	Shortened PR interval	2548	GAA	OMIM:232300
HP:0005165	Shortened PR interval	2548	GAA	ORPHA:308552
HP:0005165	Shortened PR interval	4519	MT-CYB	ORPHA:137675
HP:0005165	Shortened PR interval	51422	PRKAG2	OMIM:194200
HP:0005165	Shortened PR interval	51422	PRKAG2	OMIM:261740
HP:0005165	Shortened PR interval	51422	PRKAG2	OMIM:600858
HP:0005165	Shortened PR interval	123263	MTFMT	OMIM:614947
HP:0005165	Shortened PR interval	100134444	KCNJ18	ORPHA:79102
HP:0005165	Shortened PR interval	2556	GABRA3	ORPHA:79102
HP:0005165	Shortened PR interval	779	CACNA1S	ORPHA:79102
HP:0005165	Shortened PR interval	83475	DOHH	OMIM:620066
HP:0005164	Dysplastic pulmonary valve	1654	DDX3X	OMIM:300958
HP:0005164	Dysplastic pulmonary valve	10524	KAT5	OMIM:619103
HP:0005164	Dysplastic pulmonary valve	374879	ZNF699	OMIM:619488
HP:0005164	Dysplastic pulmonary valve	11128	POLR3A	ORPHA:3455
HP:0001718	Mitral stenosis	5337	PLD1	OMIM:212093
HP:0001718	Mitral stenosis	7547	ZIC3	OMIM:306955
HP:0001718	Mitral stenosis	4000	LMNA	ORPHA:740
HP:0001718	Mitral stenosis	10269	ZMPSTE24	ORPHA:740
HP:0001718	Mitral stenosis	7707	ZNF148	OMIM:617260
HP:0001718	Mitral stenosis	23498	HAAO	OMIM:617660
HP:0001718	Mitral stenosis	64131	XYLT1	OMIM:264800
HP:0001718	Mitral stenosis	64132	XYLT2	OMIM:264800
HP:0001718	Mitral stenosis	368	ABCC6	OMIM:264800
HP:0001718	Mitral stenosis	8216	LZTR1	OMIM:616564
HP:0001718	Mitral stenosis	8216	LZTR1	OMIM:605275
HP:0001718	Mitral stenosis	127833	SYT2	OMIM:619461
HP:0001718	Mitral stenosis	2200	FBN1	OMIM:614185
HP:0001718	Mitral stenosis	9469	CHST3	OMIM:143095
HP:0001718	Mitral stenosis	2697	GJA1	ORPHA:2248
HP:0001718	Mitral stenosis	1482	NKX2-5	ORPHA:2248
HP:0001718	Mitral stenosis	55784	MCTP2	ORPHA:1596
HP:0001718	Mitral stenosis	2629	GBA1	OMIM:231005
HP:0001718	Mitral stenosis	7319	UBE2A	ORPHA:163956
HP:0001718	Mitral stenosis	4853	NOTCH2	ORPHA:955
HP:0001718	Mitral stenosis	9719	ADAMTSL2	OMIM:231050
HP:0001718	Mitral stenosis	4851	NOTCH1	OMIM:109730
HP:0001718	Mitral stenosis	411	ARSB	OMIM:253200
HP:0001645	Sudden cardiac death	1374	CPT1A	ORPHA:156
HP:0001645	Sudden cardiac death	26191	PTPN22	ORPHA:397
HP:0001645	Sudden cardiac death	3106	HLA-B	ORPHA:397
HP:0001645	Sudden cardiac death	3106	HLA-B	ORPHA:36426
HP:0001645	Sudden cardiac death	3123	HLA-DRB1	ORPHA:397
HP:0001645	Sudden cardiac death	8974	P4HA2	ORPHA:397
HP:0001645	Sudden cardiac death	6331	SCN5A	OMIM:601144
HP:0001645	Sudden cardiac death	6331	SCN5A	OMIM:603830
HP:0001645	Sudden cardiac death	6331	SCN5A	ORPHA:101016
HP:0001645	Sudden cardiac death	6331	SCN5A	OMIM:113900
HP:0001645	Sudden cardiac death	37	ACADVL	OMIM:201475
HP:0001645	Sudden cardiac death	282996	RBM20	OMIM:613172
HP:0001645	Sudden cardiac death	7168	TPM1	OMIM:115196
HP:0001645	Sudden cardiac death	4607	MYBPC3	OMIM:115197
HP:0001645	Sudden cardiac death	4000	LMNA	ORPHA:300751
HP:0001645	Sudden cardiac death	4000	LMNA	OMIM:181350
HP:0001645	Sudden cardiac death	4000	LMNA	OMIM:115200
HP:0001645	Sudden cardiac death	4000	LMNA	ORPHA:98855
HP:0001645	Sudden cardiac death	4000	LMNA	ORPHA:98853
HP:0001645	Sudden cardiac death	9992	KCNE2	OMIM:613693
HP:0001645	Sudden cardiac death	9992	KCNE2	ORPHA:101016
HP:0001645	Sudden cardiac death	3753	KCNE1	OMIM:613695
HP:0001645	Sudden cardiac death	3753	KCNE1	ORPHA:101016
HP:0001645	Sudden cardiac death	3753	KCNE1	OMIM:612347
HP:0001645	Sudden cardiac death	8048	CSRP3	OMIM:612124
HP:0001645	Sudden cardiac death	4625	MYH7	ORPHA:1880
HP:0001645	Sudden cardiac death	4625	MYH7	OMIM:613426
HP:0001645	Sudden cardiac death	6804	STX1A	ORPHA:904
HP:0001645	Sudden cardiac death	7461	CLIP2	ORPHA:904
HP:0001645	Sudden cardiac death	84277	DNAJC30	ORPHA:904
HP:0001645	Sudden cardiac death	8468	FKBP6	ORPHA:904
HP:0001645	Sudden cardiac death	5982	RFC2	ORPHA:904
HP:0001645	Sudden cardiac death	2969	GTF2I	ORPHA:904
HP:0001645	Sudden cardiac death	3984	LIMK1	ORPHA:904
HP:0001645	Sudden cardiac death	9569	GTF2IRD1	ORPHA:904
HP:0001645	Sudden cardiac death	155382	VPS37D	ORPHA:904
HP:0001645	Sudden cardiac death	155368	METTL27	ORPHA:904
HP:0001645	Sudden cardiac death	114049	BUD23	ORPHA:904
HP:0001645	Sudden cardiac death	7458	EIF4H	ORPHA:904
HP:0001645	Sudden cardiac death	84163	GTF2IRD2	ORPHA:904
HP:0001645	Sudden cardiac death	9275	BCL7B	ORPHA:904
HP:0001645	Sudden cardiac death	26608	TBL2	ORPHA:904
HP:0001645	Sudden cardiac death	653361	NCF1	ORPHA:904
HP:0001645	Sudden cardiac death	135886	TMEM270	ORPHA:904
HP:0001645	Sudden cardiac death	51085	MLXIPL	ORPHA:904
HP:0001645	Sudden cardiac death	9031	BAZ1B	ORPHA:904
HP:0001645	Sudden cardiac death	2006	ELN	ORPHA:904
HP:0001645	Sudden cardiac death	775	CACNA1C	OMIM:611875
HP:0001645	Sudden cardiac death	775	CACNA1C	ORPHA:101016
HP:0001645	Sudden cardiac death	775	CACNA1C	OMIM:618447
HP:0001645	Sudden cardiac death	7454	WAS	ORPHA:906
HP:0001645	Sudden cardiac death	7456	WIPF1	ORPHA:906
HP:0001645	Sudden cardiac death	3757	KCNH2	OMIM:609620
HP:0001645	Sudden cardiac death	3757	KCNH2	ORPHA:101016
HP:0001645	Sudden cardiac death	3757	KCNH2	OMIM:613688
HP:0001645	Sudden cardiac death	3757	KCNH2	ORPHA:51083
HP:0001645	Sudden cardiac death	7134	TNNC1	OMIM:611879
HP:0001645	Sudden cardiac death	6262	RYR2	OMIM:604772
HP:0001645	Sudden cardiac death	6262	RYR2	ORPHA:3286
HP:0001645	Sudden cardiac death	6262	RYR2	OMIM:115000
HP:0001645	Sudden cardiac death	845	CASQ2	OMIM:604772
HP:0001645	Sudden cardiac death	845	CASQ2	ORPHA:3286
HP:0001645	Sudden cardiac death	10345	TRDN	OMIM:604772
HP:0001645	Sudden cardiac death	10345	TRDN	ORPHA:101016
HP:0001645	Sudden cardiac death	10345	TRDN	ORPHA:3286
HP:0001645	Sudden cardiac death	3784	KCNQ1	OMIM:609621
HP:0001645	Sudden cardiac death	3784	KCNQ1	OMIM:192500
HP:0001645	Sudden cardiac death	3784	KCNQ1	OMIM:607554
HP:0001645	Sudden cardiac death	3784	KCNQ1	ORPHA:101016
HP:0001645	Sudden cardiac death	3784	KCNQ1	OMIM:220400
HP:0001645	Sudden cardiac death	3784	KCNQ1	ORPHA:51083
HP:0001645	Sudden cardiac death	7043	TGFB3	OMIM:107970
HP:0001645	Sudden cardiac death	4040	LRP6	OMIM:610947
HP:0001645	Sudden cardiac death	5728	PTEN	ORPHA:744
HP:0001645	Sudden cardiac death	207	AKT1	ORPHA:744
HP:0001645	Sudden cardiac death	10021	HCN4	OMIM:163800
HP:0001645	Sudden cardiac death	79188	TMEM43	OMIM:604400
HP:0001645	Sudden cardiac death	79188	TMEM43	ORPHA:98853
HP:0001645	Sudden cardiac death	1837	DTNA	OMIM:604169
HP:0001645	Sudden cardiac death	3728	JUP	OMIM:601214
HP:0001645	Sudden cardiac death	3728	JUP	ORPHA:34217
HP:0001645	Sudden cardiac death	80206	FHOD3	OMIM:619402
HP:0001645	Sudden cardiac death	1829	DSG2	OMIM:610193
HP:0001645	Sudden cardiac death	27068	PPA2	OMIM:617222
HP:0001645	Sudden cardiac death	287	ANK2	OMIM:600919
HP:0001645	Sudden cardiac death	287	ANK2	ORPHA:101016
HP:0001645	Sudden cardiac death	131118	DNAJC19	OMIM:610198
HP:0001645	Sudden cardiac death	1824	DSC2	OMIM:610476
HP:0001645	Sudden cardiac death	54800	KLHL24	OMIM:620236
HP:0001645	Sudden cardiac death	11155	LDB3	OMIM:601493
HP:0001645	Sudden cardiac death	26154	ABCA12	ORPHA:457
HP:0001645	Sudden cardiac death	7139	TNNT2	OMIM:601494
HP:0001645	Sudden cardiac death	6508	SLC4A3	OMIM:620231
HP:0001645	Sudden cardiac death	6508	SLC4A3	ORPHA:51083
HP:0001645	Sudden cardiac death	801	CALM1	OMIM:614916
HP:0001645	Sudden cardiac death	801	CALM1	ORPHA:101016
HP:0001645	Sudden cardiac death	801	CALM1	ORPHA:3286
HP:0001645	Sudden cardiac death	3949	LDLR	ORPHA:391665
HP:0001645	Sudden cardiac death	255738	PCSK9	ORPHA:391665
HP:0001645	Sudden cardiac death	26119	LDLRAP1	ORPHA:391665
HP:0001645	Sudden cardiac death	338	APOB	ORPHA:391665
HP:0001645	Sudden cardiac death	64240	ABCG5	ORPHA:391665
HP:0001645	Sudden cardiac death	64241	ABCG8	ORPHA:391665
HP:0001645	Sudden cardiac death	3762	KCNJ5	ORPHA:101016
HP:0001645	Sudden cardiac death	805	CALM2	ORPHA:101016
HP:0001645	Sudden cardiac death	805	CALM2	ORPHA:3286
HP:0001645	Sudden cardiac death	6910	TBX5	ORPHA:101016
HP:0001645	Sudden cardiac death	6336	SCN10A	ORPHA:101016
HP:0001645	Sudden cardiac death	10142	AKAP9	ORPHA:101016
HP:0001645	Sudden cardiac death	9722	NOS1AP	ORPHA:101016
HP:0001645	Sudden cardiac death	6330	SCN4B	ORPHA:101016
HP:0001645	Sudden cardiac death	6330	SCN4B	OMIM:611819
HP:0001645	Sudden cardiac death	808	CALM3	ORPHA:101016
HP:0001645	Sudden cardiac death	808	CALM3	ORPHA:3286
HP:0001645	Sudden cardiac death	6640	SNTA1	ORPHA:101016
HP:0001645	Sudden cardiac death	859	CAV3	ORPHA:101016
HP:0001645	Sudden cardiac death	4633	MYL2	OMIM:608758
HP:0001645	Sudden cardiac death	10320	IKZF1	ORPHA:36426
HP:0001645	Sudden cardiac death	7137	TNNI3	OMIM:115210
HP:0001645	Sudden cardiac death	9631	NUP155	OMIM:615770
HP:0001645	Sudden cardiac death	5318	PKP2	OMIM:609040
HP:0001645	Sudden cardiac death	1674	DES	ORPHA:98909
HP:0001645	Sudden cardiac death	5236	PGM1	OMIM:614921
HP:0001645	Sudden cardiac death	51422	PRKAG2	OMIM:194200
HP:0001645	Sudden cardiac death	253017	TECRL	ORPHA:3286
HP:0001645	Sudden cardiac death	23171	GPD1L	OMIM:611777
HP:0001645	Sudden cardiac death	2010	EMD	OMIM:310300
HP:0001645	Sudden cardiac death	2010	EMD	ORPHA:98863
HP:0001645	Sudden cardiac death	4634	MYL3	OMIM:608751
HP:0001645	Sudden cardiac death	55750	AGK	OMIM:212350
HP:0001645	Sudden cardiac death	51778	MYOZ2	OMIM:613838
HP:0001645	Sudden cardiac death	2273	FHL1	ORPHA:98863
HP:0001645	Sudden cardiac death	23529	CLCF1	ORPHA:1545
HP:0001645	Sudden cardiac death	9244	CRLF1	ORPHA:1545
HP:0001645	Sudden cardiac death	2070	EYA4	OMIM:605362
HP:0001645	Sudden cardiac death	2771	GNAI2	OMIM:192605
HP:0001645	Sudden cardiac death	2318	FLNC	OMIM:617047
HP:0001645	Sudden cardiac death	2783	GNB2	OMIM:619464
HP:0001645	Sudden cardiac death	144245	ALG10B	OMIM:613688
HP:0001645	Sudden cardiac death	221496	LEMD2	OMIM:212500
HP:0001645	Sudden cardiac death	5167	ENPP1	ORPHA:758
HP:0001645	Sudden cardiac death	368	ABCC6	ORPHA:758
HP:0001645	Sudden cardiac death	28976	ACAD9	ORPHA:99901
HP:0001645	Sudden cardiac death	781	CACNA2D1	ORPHA:51083
HP:0001645	Sudden cardiac death	3759	KCNJ2	ORPHA:51083
HP:0001645	Sudden cardiac death	1804	DPP6	OMIM:612956
HP:0001645	Sudden cardiac death	6444	SGCD	OMIM:606685
HP:0001645	Sudden cardiac death	7273	TTN	OMIM:611705
HP:0001645	Sudden cardiac death	1832	DSP	OMIM:607450
HP:0001645	Sudden cardiac death	23345	SYNE1	ORPHA:98853
HP:0001645	Sudden cardiac death	23224	SYNE2	ORPHA:98853
HP:0031080	Abnormal response to glucagon stimulation test	9968	MED12	OMIM:301068
HP:0031080	Abnormal response to glucagon stimulation test	3767	KCNJ11	ORPHA:276580
HP:0031080	Abnormal response to glucagon stimulation test	7351	UCP2	ORPHA:276556
HP:0031080	Abnormal response to glucagon stimulation test	6927	HNF1A	ORPHA:324575
HP:0031080	Abnormal response to glucagon stimulation test	6833	ABCC8	ORPHA:276575
HP:0031082	Impaired growth-hormone response to glucagon stimulation test	9968	MED12	OMIM:301068
HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	5447	POR	ORPHA:95699
HP:0031084	Excessive insulin response to glucagon test	3767	KCNJ11	ORPHA:276580
HP:0031084	Excessive insulin response to glucagon test	7351	UCP2	ORPHA:276556
HP:0031084	Excessive insulin response to glucagon test	6927	HNF1A	ORPHA:324575
HP:0031084	Excessive insulin response to glucagon test	6833	ABCC8	ORPHA:276575
HP:0031085	Decreased prealbumin level	50943	FOXP3	ORPHA:37042
HP:0031085	Decreased prealbumin level	3119	HLA-DQB1	ORPHA:930
HP:0031085	Decreased prealbumin level	9244	CRLF1	ORPHA:930
HP:0031085	Decreased prealbumin level	3117	HLA-DQA1	ORPHA:930
HP:0031085	Decreased prealbumin level	4842	NOS1	ORPHA:930
HP:0031087	Absent pubertal growth spurt	6023	RMRP	OMIM:250250
HP:0031087	Absent pubertal growth spurt	57531	HACE1	ORPHA:464282
HP:0031087	Absent pubertal growth spurt	5111	PCNA	OMIM:615919
HP:0031087	Absent pubertal growth spurt	5111	PCNA	ORPHA:438134
HP:0031088	Vaginal dryness	8626	TP63	OMIM:106260
HP:0031092	Spindle-shaped finger	374654	KIF7	ORPHA:166024
HP:0031093	Abnormal breast morphology	8450	CUL4B	OMIM:300354
HP:0031093	Abnormal breast morphology	27125	AFF4	ORPHA:444077
HP:0031093	Abnormal breast morphology	55315	SLC29A3	OMIM:602782
HP:0031093	Abnormal breast morphology	55315	SLC29A3	ORPHA:168569
HP:0031093	Abnormal breast morphology	56997	COQ8A	ORPHA:139485
HP:0031093	Abnormal breast morphology	1528	CYB5A	ORPHA:90796
HP:0031093	Abnormal breast morphology	1586	CYP17A1	ORPHA:90796
HP:0031093	Abnormal breast morphology	1586	CYP17A1	ORPHA:90793
HP:0031093	Abnormal breast morphology	1586	CYP17A1	OMIM:202110
HP:0031093	Abnormal breast morphology	367	AR	ORPHA:90797
HP:0031093	Abnormal breast morphology	367	AR	OMIM:300068
HP:0031093	Abnormal breast morphology	367	AR	OMIM:312300
HP:0031093	Abnormal breast morphology	367	AR	ORPHA:481
HP:0031093	Abnormal breast morphology	367	AR	OMIM:313200
HP:0031093	Abnormal breast morphology	4221	MEN1	ORPHA:2965
HP:0031093	Abnormal breast morphology	64072	CDH23	ORPHA:2965
HP:0031093	Abnormal breast morphology	64072	CDH23	ORPHA:91347
HP:0031093	Abnormal breast morphology	9049	AIP	ORPHA:2965
HP:0031093	Abnormal breast morphology	79639	TMEM53	OMIM:619727
HP:0031093	Abnormal breast morphology	1363	CPE	OMIM:619326
HP:0031093	Abnormal breast morphology	3952	LEP	ORPHA:66628
HP:0031093	Abnormal breast morphology	3952	LEP	OMIM:614962
HP:0031093	Abnormal breast morphology	3284	HSD3B2	ORPHA:90791
HP:0031093	Abnormal breast morphology	1584	CYP11B1	ORPHA:90795
HP:0031093	Abnormal breast morphology	4204	MECP2	OMIM:300055
HP:0031093	Abnormal breast morphology	1588	CYP19A1	OMIM:139300
HP:0031093	Abnormal breast morphology	284654	RSPO1	OMIM:610644
HP:0031093	Abnormal breast morphology	7840	ALMS1	OMIM:203800
HP:0031093	Abnormal breast morphology	7840	ALMS1	ORPHA:64
HP:0031093	Abnormal breast morphology	3248	HPGD	ORPHA:2796
HP:0031093	Abnormal breast morphology	6578	SLCO2A1	ORPHA:2796
HP:0031093	Abnormal breast morphology	1583	CYP11A1	ORPHA:289548
HP:0031093	Abnormal breast morphology	1583	CYP11A1	ORPHA:168558
HP:0031093	Abnormal breast morphology	3293	HSD17B3	OMIM:264300
HP:0031093	Abnormal breast morphology	3293	HSD17B3	ORPHA:752
HP:0031093	Abnormal breast morphology	9723	SEMA3E	OMIM:146110
HP:0031093	Abnormal breast morphology	558	AXL	OMIM:146110
HP:0031093	Abnormal breast morphology	10011	SRA1	OMIM:146110
HP:0031093	Abnormal breast morphology	285025	CCDC141	OMIM:146110
HP:0031093	Abnormal breast morphology	285025	CCDC141	ORPHA:478
HP:0031093	Abnormal breast morphology	389549	FEZF1	OMIM:146110
HP:0031093	Abnormal breast morphology	389549	FEZF1	ORPHA:478
HP:0031093	Abnormal breast morphology	3953	LEPR	ORPHA:179494
HP:0031093	Abnormal breast morphology	208	AKT2	OMIM:240900
HP:0031093	Abnormal breast morphology	208	AKT2	ORPHA:293964
HP:0031093	Abnormal breast morphology	6662	SOX9	ORPHA:251510
HP:0031093	Abnormal breast morphology	6845	VAMP7	ORPHA:251510
HP:0031093	Abnormal breast morphology	51741	WWOX	ORPHA:251510
HP:0031093	Abnormal breast morphology	4214	MAP3K1	ORPHA:251510
HP:0031093	Abnormal breast morphology	2516	NR5A1	ORPHA:251510
HP:0031093	Abnormal breast morphology	7490	WT1	ORPHA:251510
HP:0031093	Abnormal breast morphology	58524	DMRT3	ORPHA:251510
HP:0031093	Abnormal breast morphology	57647	DHX37	ORPHA:251510
HP:0031093	Abnormal breast morphology	23414	ZFPM2	ORPHA:251510
HP:0031093	Abnormal breast morphology	190	NR0B1	ORPHA:251510
HP:0031093	Abnormal breast morphology	1589	CYP21A2	OMIM:201910
HP:0031093	Abnormal breast morphology	55131	RBM28	ORPHA:157954
HP:0031093	Abnormal breast morphology	55131	RBM28	OMIM:612079
HP:0031093	Abnormal breast morphology	23347	SMCHD1	ORPHA:2250
HP:0031093	Abnormal breast morphology	285590	SH3PXD2B	ORPHA:137834
HP:0031093	Abnormal breast morphology	11128	POLR3A	OMIM:264090
HP:0031093	Abnormal breast morphology	11128	POLR3A	ORPHA:3455
HP:0031093	Abnormal breast morphology	3675	ITGA3	OMIM:614748
HP:0031093	Abnormal breast morphology	23137	SMC5	OMIM:620185
HP:0031093	Abnormal breast morphology	26137	ZBTB20	OMIM:259050
HP:0031093	Abnormal breast morphology	26137	ZBTB20	ORPHA:3042
HP:0031093	Abnormal breast morphology	3972	LHB	OMIM:228300
HP:0031093	Abnormal breast morphology	6942	TCF20	OMIM:618430
HP:0031093	Abnormal breast morphology	81887	LAS1L	ORPHA:3459
HP:0031093	Abnormal breast morphology	81887	LAS1L	OMIM:309585
HP:0031093	Abnormal breast morphology	84295	PHF6	OMIM:301900
HP:0031093	Abnormal breast morphology	84295	PHF6	ORPHA:127
HP:0031093	Abnormal breast morphology	2332	FMR1	ORPHA:261483
HP:0031093	Abnormal breast morphology	654	BMP6	ORPHA:465508
HP:0031093	Abnormal breast morphology	3077	HFE	ORPHA:465508
HP:0031093	Abnormal breast morphology	3730	ANOS1	OMIM:308700
HP:0031093	Abnormal breast morphology	3730	ANOS1	ORPHA:478
HP:0031093	Abnormal breast morphology	5696	PSMB8	OMIM:256040
HP:0031093	Abnormal breast morphology	1674	DES	OMIM:181400
HP:0031093	Abnormal breast morphology	10371	SEMA3A	ORPHA:478
HP:0031093	Abnormal breast morphology	23767	FLRT3	ORPHA:478
HP:0031093	Abnormal breast morphology	79625	NDNF	ORPHA:478
HP:0031093	Abnormal breast morphology	1630	DCC	ORPHA:478
HP:0031093	Abnormal breast morphology	54756	IL17RD	ORPHA:478
HP:0031093	Abnormal breast morphology	6663	SOX10	ORPHA:478
HP:0031093	Abnormal breast morphology	8820	HESX1	ORPHA:478
HP:0031093	Abnormal breast morphology	23476	BRD4	ORPHA:199
HP:0031093	Abnormal breast morphology	9126	SMC3	ORPHA:199
HP:0031093	Abnormal breast morphology	8243	SMC1A	ORPHA:199
HP:0031093	Abnormal breast morphology	25836	NIPBL	ORPHA:199
HP:0031093	Abnormal breast morphology	25836	NIPBL	OMIM:122470
HP:0031093	Abnormal breast morphology	55869	HDAC8	ORPHA:199
HP:0031093	Abnormal breast morphology	5885	RAD21	ORPHA:199
HP:0031093	Abnormal breast morphology	64840	PORCN	OMIM:305600
HP:0031093	Abnormal breast morphology	57003	CCDC47	OMIM:618268
HP:0031093	Abnormal breast morphology	23135	KDM6B	OMIM:618505
HP:0031093	Abnormal breast morphology	8239	USP9X	ORPHA:480880
HP:0031093	Abnormal breast morphology	5828	PEX2	OMIM:614866
HP:0031093	Abnormal breast morphology	79796	ALG9	ORPHA:79328
HP:0031093	Abnormal breast morphology	4247	MGAT2	ORPHA:79329
HP:0031093	Abnormal breast morphology	197131	UBR1	OMIM:243800
HP:0031093	Abnormal breast morphology	203068	TUBB	OMIM:156610
HP:0031093	Abnormal breast morphology	388015	RTL1	ORPHA:96334
HP:0031093	Abnormal breast morphology	8788	DLK1	ORPHA:96334
HP:0031093	Abnormal breast morphology	55384	MEG3	ORPHA:96334
HP:0031093	Abnormal breast morphology	6926	TBX3	ORPHA:3138
HP:0031093	Abnormal breast morphology	6926	TBX3	OMIM:181450
HP:0031093	Abnormal breast morphology	1146	CHRNG	OMIM:265000
HP:0031093	Abnormal breast morphology	56992	KIF15	ORPHA:261323
HP:0031093	Abnormal breast morphology	10020	GNE	OMIM:269921
HP:0031093	Abnormal breast morphology	84168	ANTXR1	OMIM:230740
HP:0031093	Abnormal breast morphology	7476	WNT7A	OMIM:276820
HP:0031093	Abnormal breast morphology	3858	KRT10	OMIM:609165
HP:0031093	Abnormal breast morphology	1954	MEGF8	OMIM:614976
HP:0031093	Abnormal breast morphology	79633	FAT4	OMIM:615546
HP:0031093	Abnormal breast morphology	8517	IKBKG	OMIM:308300
HP:0031093	Abnormal breast morphology	26040	SETBP1	OMIM:269150
HP:0031093	Abnormal breast morphology	9653	HS2ST1	OMIM:619194
HP:0031093	Abnormal breast morphology	10771	ZMYND11	OMIM:616083
HP:0031093	Abnormal breast morphology	8294	H4C9	OMIM:619951
HP:0031093	Abnormal breast morphology	10765	KDM5B	OMIM:618109
HP:0031093	Abnormal breast morphology	5648	MASP1	OMIM:257920
HP:0031093	Abnormal breast morphology	5648	MASP1	ORPHA:293843
HP:0031093	Abnormal breast morphology	10054	UBA2	OMIM:619959
HP:0031093	Abnormal breast morphology	57514	ARHGAP31	OMIM:100300
HP:0031093	Abnormal breast morphology	60	ACTB	ORPHA:64755
HP:0031093	Abnormal breast morphology	4191	MDH2	OMIM:617339
HP:0031093	Abnormal breast morphology	23028	KDM1A	OMIM:616728
HP:0031093	Abnormal breast morphology	23028	KDM1A	ORPHA:477993
HP:0031093	Abnormal breast morphology	9839	ZEB2	OMIM:235730
HP:0031093	Abnormal breast morphology	6925	TCF4	ORPHA:2896
HP:0031093	Abnormal breast morphology	6925	TCF4	OMIM:610954
HP:0031093	Abnormal breast morphology	80816	ASXL3	OMIM:615485
HP:0031093	Abnormal breast morphology	23112	TNRC6B	OMIM:619243
HP:0031093	Abnormal breast morphology	10220	GDF11	OMIM:619122
HP:0031093	Abnormal breast morphology	1723	DHODH	OMIM:263750
HP:0031093	Abnormal breast morphology	1723	DHODH	ORPHA:246
HP:0031093	Abnormal breast morphology	283489	CHAMP1	OMIM:616579
HP:0031093	Abnormal breast morphology	150468	CKAP2L	ORPHA:3255
HP:0031093	Abnormal breast morphology	4841	NONO	ORPHA:466791
HP:0031093	Abnormal breast morphology	84992	PIGY	ORPHA:247262
HP:0031093	Abnormal breast morphology	84720	PIGO	ORPHA:247262
HP:0031093	Abnormal breast morphology	93210	PGAP3	ORPHA:247262
HP:0031093	Abnormal breast morphology	284098	PIGW	ORPHA:247262
HP:0031093	Abnormal breast morphology	27315	PGAP2	ORPHA:247262
HP:0031093	Abnormal breast morphology	55650	PIGV	ORPHA:247262
HP:0031093	Abnormal breast morphology	5528	PPP2R5D	ORPHA:457279
HP:0031093	Abnormal breast morphology	10274	STAG1	OMIM:617635
HP:0031093	Abnormal breast morphology	7021	TFAP2B	ORPHA:46627
HP:0031093	Abnormal breast morphology	10584	COLEC10	ORPHA:293843
HP:0031093	Abnormal breast morphology	78989	COLEC11	ORPHA:293843
HP:0031093	Abnormal breast morphology	1000	CDH2	OMIM:618929
HP:0031093	Abnormal breast morphology	54476	RNF216	ORPHA:1173
HP:0031093	Abnormal breast morphology	10908	PNPLA6	ORPHA:1173
HP:0031093	Abnormal breast morphology	8295	TRRAP	OMIM:618454
HP:0031093	Abnormal breast morphology	1656	DDX6	OMIM:618653
HP:0031093	Abnormal breast morphology	57728	WDR19	OMIM:614376
HP:0031093	Abnormal breast morphology	3720	JARID2	OMIM:620098
HP:0031093	Abnormal breast morphology	9896	FIG4	OMIM:216340
HP:0031093	Abnormal breast morphology	1896	EDA	OMIM:305100
HP:0031093	Abnormal breast morphology	8626	TP63	ORPHA:69085
HP:0031093	Abnormal breast morphology	8626	TP63	ORPHA:978
HP:0031093	Abnormal breast morphology	8626	TP63	OMIM:103285
HP:0031093	Abnormal breast morphology	340419	RSPO2	OMIM:618021
HP:0031093	Abnormal breast morphology	5792	PTPRF	OMIM:616001
HP:0031093	Abnormal breast morphology	128178	EDARADD	OMIM:614940
HP:0031093	Abnormal breast morphology	128178	EDARADD	OMIM:614941
HP:0031093	Abnormal breast morphology	29957	SLC25A24	OMIM:612289
HP:0031093	Abnormal breast morphology	117581	TWIST2	OMIM:209885
HP:0031093	Abnormal breast morphology	1009	CDH11	ORPHA:1299
HP:0031093	Abnormal breast morphology	8085	KMT2D	OMIM:620186
HP:0031093	Abnormal breast morphology	9487	PIGL	OMIM:280000
HP:0031093	Abnormal breast morphology	7994	KAT6A	OMIM:616268
HP:0031093	Abnormal breast morphology	404672	GTF2H5	ORPHA:33364
HP:0031093	Abnormal breast morphology	833	CARS1	ORPHA:33364
HP:0031093	Abnormal breast morphology	2068	ERCC2	ORPHA:33364
HP:0031093	Abnormal breast morphology	7737	RNF113A	ORPHA:33364
HP:0031093	Abnormal breast morphology	136647	MPLKIP	ORPHA:33364
HP:0031093	Abnormal breast morphology	6897	TARS1	ORPHA:33364
HP:0031093	Abnormal breast morphology	2071	ERCC3	ORPHA:33364
HP:0031093	Abnormal breast morphology	2961	GTF2E2	ORPHA:33364
HP:0031093	Abnormal breast morphology	3020	H3-3A	OMIM:619720
HP:0031093	Abnormal breast morphology	4292	MLH1	OMIM:158320
HP:0031093	Abnormal breast morphology	4292	MLH1	ORPHA:587
HP:0031093	Abnormal breast morphology	4436	MSH2	OMIM:158320
HP:0031093	Abnormal breast morphology	4436	MSH2	ORPHA:587
HP:0031093	Abnormal breast morphology	8313	AXIN2	OMIM:608615
HP:0031093	Abnormal breast morphology	54894	RNF43	ORPHA:157798
HP:0031093	Abnormal breast morphology	388662	SLC6A17	ORPHA:457212
HP:0031093	Abnormal breast morphology	4913	NTHL1	ORPHA:454840
HP:0031093	Abnormal breast morphology	4913	NTHL1	OMIM:616415
HP:0031093	Abnormal breast morphology	7157	TP53	OMIM:151623
HP:0031093	Abnormal breast morphology	7157	TP53	OMIM:114480
HP:0031093	Abnormal breast morphology	7157	TP53	ORPHA:524
HP:0031093	Abnormal breast morphology	7157	TP53	ORPHA:145
HP:0031093	Abnormal breast morphology	7157	TP53	ORPHA:1333
HP:0031093	Abnormal breast morphology	5889	RAD51C	OMIM:613399
HP:0031093	Abnormal breast morphology	5889	RAD51C	ORPHA:145
HP:0031093	Abnormal breast morphology	545	ATR	OMIM:614564
HP:0031093	Abnormal breast morphology	999	CDH1	OMIM:167000
HP:0031093	Abnormal breast morphology	999	CDH1	OMIM:114480
HP:0031093	Abnormal breast morphology	5071	PRKN	OMIM:167000
HP:0031093	Abnormal breast morphology	4978	OPCML	OMIM:167000
HP:0031093	Abnormal breast morphology	207	AKT1	OMIM:167000
HP:0031093	Abnormal breast morphology	207	AKT1	OMIM:114480
HP:0031093	Abnormal breast morphology	207	AKT1	ORPHA:201
HP:0031093	Abnormal breast morphology	207	AKT1	OMIM:615109
HP:0031093	Abnormal breast morphology	2064	ERBB2	OMIM:167000
HP:0031093	Abnormal breast morphology	5290	PIK3CA	OMIM:167000
HP:0031093	Abnormal breast morphology	5290	PIK3CA	OMIM:114480
HP:0031093	Abnormal breast morphology	5290	PIK3CA	ORPHA:201
HP:0031093	Abnormal breast morphology	5290	PIK3CA	OMIM:615108
HP:0031093	Abnormal breast morphology	1499	CTNNB1	OMIM:167000
HP:0031093	Abnormal breast morphology	6794	STK11	OMIM:175200
HP:0031093	Abnormal breast morphology	6794	STK11	ORPHA:2869
HP:0031093	Abnormal breast morphology	83990	BRIP1	OMIM:114480
HP:0031093	Abnormal breast morphology	83990	BRIP1	ORPHA:145
HP:0031093	Abnormal breast morphology	5002	SLC22A18	OMIM:114480
HP:0031093	Abnormal breast morphology	4835	NQO2	OMIM:114480
HP:0031093	Abnormal breast morphology	5245	PHB1	OMIM:114480
HP:0031093	Abnormal breast morphology	11200	CHEK2	OMIM:114480
HP:0031093	Abnormal breast morphology	11200	CHEK2	ORPHA:524
HP:0031093	Abnormal breast morphology	11200	CHEK2	OMIM:609265
HP:0031093	Abnormal breast morphology	11200	CHEK2	ORPHA:145
HP:0031093	Abnormal breast morphology	3161	HMMR	OMIM:114480
HP:0031093	Abnormal breast morphology	580	BARD1	OMIM:114480
HP:0031093	Abnormal breast morphology	580	BARD1	ORPHA:145
HP:0031093	Abnormal breast morphology	672	BRCA1	OMIM:114480
HP:0031093	Abnormal breast morphology	672	BRCA1	OMIM:604370
HP:0031093	Abnormal breast morphology	672	BRCA1	ORPHA:145
HP:0031093	Abnormal breast morphology	672	BRCA1	OMIM:617883
HP:0031093	Abnormal breast morphology	672	BRCA1	ORPHA:1333
HP:0031093	Abnormal breast morphology	675	BRCA2	OMIM:114480
HP:0031093	Abnormal breast morphology	675	BRCA2	ORPHA:145
HP:0031093	Abnormal breast morphology	675	BRCA2	ORPHA:1333
HP:0031093	Abnormal breast morphology	675	BRCA2	OMIM:612555
HP:0031093	Abnormal breast morphology	472	ATM	OMIM:114480
HP:0031093	Abnormal breast morphology	8493	PPM1D	OMIM:114480
HP:0031093	Abnormal breast morphology	79728	PALB2	OMIM:114480
HP:0031093	Abnormal breast morphology	79728	PALB2	ORPHA:145
HP:0031093	Abnormal breast morphology	79728	PALB2	ORPHA:1333
HP:0031093	Abnormal breast morphology	5888	RAD51	OMIM:114480
HP:0031093	Abnormal breast morphology	5888	RAD51	ORPHA:145
HP:0031093	Abnormal breast morphology	7517	XRCC3	OMIM:114480
HP:0031093	Abnormal breast morphology	9821	RB1CC1	OMIM:114480
HP:0031093	Abnormal breast morphology	2099	ESR1	OMIM:114480
HP:0031093	Abnormal breast morphology	841	CASP8	OMIM:114480
HP:0031093	Abnormal breast morphology	8438	RAD54L	OMIM:114480
HP:0031093	Abnormal breast morphology	324	APC	ORPHA:247806
HP:0031093	Abnormal breast morphology	324	APC	ORPHA:79665
HP:0031093	Abnormal breast morphology	324	APC	OMIM:135290
HP:0031093	Abnormal breast morphology	4210	MEFV	ORPHA:3243
HP:0031093	Abnormal breast morphology	5426	POLE	ORPHA:447877
HP:0031093	Abnormal breast morphology	5424	POLD1	ORPHA:447877
HP:0031093	Abnormal breast morphology	7486	WRN	ORPHA:902
HP:0031093	Abnormal breast morphology	7373	COL14A1	ORPHA:79501
HP:0031093	Abnormal breast morphology	79719	AAGAB	ORPHA:79501
HP:0031093	Abnormal breast morphology	4193	MDM2	ORPHA:524
HP:0031093	Abnormal breast morphology	5892	RAD51D	ORPHA:145
HP:0031093	Abnormal breast morphology	10111	RAD50	ORPHA:145
HP:0031093	Abnormal breast morphology	4683	NBN	ORPHA:145
HP:0031093	Abnormal breast morphology	4361	MRE11	ORPHA:145
HP:0031093	Abnormal breast morphology	2778	GNAS	ORPHA:562
HP:0031093	Abnormal breast morphology	2956	MSH6	ORPHA:587
HP:0031093	Abnormal breast morphology	10483	SEC23B	ORPHA:201
HP:0031093	Abnormal breast morphology	10483	SEC23B	OMIM:616858
HP:0031093	Abnormal breast morphology	6390	SDHB	ORPHA:201
HP:0031093	Abnormal breast morphology	6392	SDHD	ORPHA:201
HP:0031093	Abnormal breast morphology	6391	SDHC	ORPHA:201
HP:0031093	Abnormal breast morphology	205717	USF3	ORPHA:201
HP:0031093	Abnormal breast morphology	100144748	KLLN	ORPHA:201
HP:0031093	Abnormal breast morphology	100144748	KLLN	OMIM:615107
HP:0031093	Abnormal breast morphology	285282	RABL3	ORPHA:1333
HP:0031093	Abnormal breast morphology	4089	SMAD4	ORPHA:1333
HP:0031093	Abnormal breast morphology	23022	PALLD	ORPHA:1333
HP:0031093	Abnormal breast morphology	7291	TWIST1	OMIM:101400
HP:0031093	Abnormal breast morphology	2263	FGFR2	OMIM:101400
HP:0031093	Abnormal breast morphology	3418	IDH2	ORPHA:163634
HP:0031093	Abnormal breast morphology	1798	DPAGT1	ORPHA:86309
HP:0031093	Abnormal breast morphology	1798	DPAGT1	OMIM:608093
HP:0031093	Abnormal breast morphology	91949	COG7	OMIM:608779
HP:0031093	Abnormal breast morphology	8504	PEX3	OMIM:617370
HP:0031093	Abnormal breast morphology	11253	MAN1B1	ORPHA:397941
HP:0031093	Abnormal breast morphology	11253	MAN1B1	OMIM:614202
HP:0031093	Abnormal breast morphology	253738	EBF3	OMIM:617330
HP:0031093	Abnormal breast morphology	51604	PIGT	OMIM:615398
HP:0031093	Abnormal breast morphology	51604	PIGT	ORPHA:369837
HP:0031093	Abnormal breast morphology	7355	SLC35A2	ORPHA:356961
HP:0031093	Abnormal breast morphology	775	CACNA1C	OMIM:620029
HP:0031093	Abnormal breast morphology	6418	SET	OMIM:618106
HP:0031093	Abnormal breast morphology	3703	STT3A	OMIM:619714
HP:0031093	Abnormal breast morphology	4784	NFIX	ORPHA:447980
HP:0031093	Abnormal breast morphology	440138	ALG11	ORPHA:280071
HP:0031093	Abnormal breast morphology	440138	ALG11	OMIM:613661
HP:0031093	Abnormal breast morphology	29998	BICRA	OMIM:619325
HP:0031093	Abnormal breast morphology	473	RERE	OMIM:616975
HP:0031093	Abnormal breast morphology	79644	SRD5A3	OMIM:612379
HP:0031093	Abnormal breast morphology	91869	RFT1	OMIM:612015
HP:0031093	Abnormal breast morphology	91869	RFT1	ORPHA:244310
HP:0031093	Abnormal breast morphology	2683	B4GALT1	ORPHA:79332
HP:0031093	Abnormal breast morphology	51	ACOX1	OMIM:264470
HP:0031093	Abnormal breast morphology	5373	PMM2	ORPHA:79318
HP:0031093	Abnormal breast morphology	5373	PMM2	OMIM:212065
HP:0031093	Abnormal breast morphology	85365	ALG2	OMIM:607906
HP:0031093	Abnormal breast morphology	50619	DEF6	OMIM:619573
HP:0031093	Abnormal breast morphology	91137	SLC25A46	OMIM:616505
HP:0031093	Abnormal breast morphology	2146	EZH2	OMIM:277590
HP:0031093	Abnormal breast morphology	9757	KMT2B	OMIM:619934
HP:0031093	Abnormal breast morphology	51322	WAC	OMIM:616708
HP:0031093	Abnormal breast morphology	51322	WAC	ORPHA:466950
HP:0031093	Abnormal breast morphology	10195	ALG3	ORPHA:79321
HP:0031093	Abnormal breast morphology	8813	DPM1	ORPHA:79322
HP:0031093	Abnormal breast morphology	79087	ALG12	ORPHA:79324
HP:0031093	Abnormal breast morphology	79087	ALG12	OMIM:607143
HP:0031093	Abnormal breast morphology	79053	ALG8	ORPHA:79325
HP:0031093	Abnormal breast morphology	55553	SOX6	OMIM:618971
HP:0031093	Abnormal breast morphology	497661	C18orf32	OMIM:619985
HP:0031093	Abnormal breast morphology	1822	ATN1	OMIM:618494
HP:0031093	Abnormal breast morphology	7528	YY1	ORPHA:506358
HP:0031093	Abnormal breast morphology	4094	MAF	ORPHA:1272
HP:0031093	Abnormal breast morphology	4998	ORC1	OMIM:224690
HP:0031093	Abnormal breast morphology	5000	ORC4	OMIM:613800
HP:0031093	Abnormal breast morphology	25886	POC1A	OMIM:614813
HP:0031093	Abnormal breast morphology	81620	CDT1	OMIM:613804
HP:0031093	Abnormal breast morphology	23594	ORC6	OMIM:613803
HP:0031093	Abnormal breast morphology	3643	INSR	ORPHA:508
HP:0031093	Abnormal breast morphology	3643	INSR	OMIM:246200
HP:0031093	Abnormal breast morphology	25782	RAB3GAP2	OMIM:212720
HP:0031093	Abnormal breast morphology	3480	IGF1R	ORPHA:73273
HP:0031093	Abnormal breast morphology	3480	IGF1R	OMIM:270450
HP:0031093	Abnormal breast morphology	9949	AMMECR1	OMIM:300990
HP:0031093	Abnormal breast morphology	2260	FGFR1	ORPHA:432
HP:0031093	Abnormal breast morphology	81848	SPRY4	ORPHA:432
HP:0031093	Abnormal breast morphology	128674	PROKR2	ORPHA:432
HP:0031093	Abnormal breast morphology	2253	FGF8	ORPHA:432
HP:0031093	Abnormal breast morphology	60675	PROK2	ORPHA:432
HP:0031093	Abnormal breast morphology	55636	CHD7	ORPHA:432
HP:0031093	Abnormal breast morphology	6870	TACR3	ORPHA:432
HP:0031093	Abnormal breast morphology	1848	DUSP6	ORPHA:432
HP:0031093	Abnormal breast morphology	26012	NSMF	ORPHA:432
HP:0031093	Abnormal breast morphology	55717	WDR11	ORPHA:432
HP:0031093	Abnormal breast morphology	9394	HS6ST1	ORPHA:432
HP:0031093	Abnormal breast morphology	2796	GNRH1	ORPHA:432
HP:0031093	Abnormal breast morphology	2798	GNRHR	ORPHA:432
HP:0031093	Abnormal breast morphology	84634	KISS1R	ORPHA:432
HP:0031093	Abnormal breast morphology	6866	TAC3	ORPHA:432
HP:0031093	Abnormal breast morphology	8822	FGF17	ORPHA:432
HP:0031093	Abnormal breast morphology	3814	KISS1	ORPHA:432
HP:0031093	Abnormal breast morphology	55906	ZC4H2	OMIM:301041
HP:0031093	Abnormal breast morphology	23394	ADNP	ORPHA:404448
HP:0031093	Abnormal breast morphology	199857	ALG14	OMIM:619036
HP:0031093	Abnormal breast morphology	341640	FREM2	ORPHA:2052
HP:0031093	Abnormal breast morphology	80144	FRAS1	ORPHA:2052
HP:0031093	Abnormal breast morphology	80144	FRAS1	OMIM:219000
HP:0031093	Abnormal breast morphology	23426	GRIP1	ORPHA:2052
HP:0031093	Abnormal breast morphology	26128	KIFBP	OMIM:609460
HP:0031093	Abnormal breast morphology	9759	HDAC4	ORPHA:1001
HP:0031093	Abnormal breast morphology	55627	SMPD4	OMIM:618622
HP:0031093	Abnormal breast morphology	145173	B3GLCT	ORPHA:709
HP:0031093	Abnormal breast morphology	145173	B3GLCT	OMIM:261540
HP:0031093	Abnormal breast morphology	79848	CSPP1	ORPHA:397715
HP:0031093	Abnormal breast morphology	9786	KIAA0586	ORPHA:397715
HP:0031093	Abnormal breast morphology	7707	ZNF148	OMIM:617260
HP:0031093	Abnormal breast morphology	1349	COX7B	OMIM:300887
HP:0031093	Abnormal breast morphology	10300	KATNB1	OMIM:616212
HP:0031093	Abnormal breast morphology	22858	CILK1	OMIM:612651
HP:0031093	Abnormal breast morphology	55690	PACS1	OMIM:615009
HP:0031093	Abnormal breast morphology	55690	PACS1	ORPHA:329224
HP:0031093	Abnormal breast morphology	4081	MAB21L1	OMIM:618479
HP:0031093	Abnormal breast morphology	10982	MAPRE2	OMIM:616734
HP:0031093	Abnormal breast morphology	1717	DHCR7	ORPHA:818
HP:0031093	Abnormal breast morphology	5818	NECTIN1	ORPHA:3253
HP:0031093	Abnormal breast morphology	55780	ERMARD	ORPHA:75857
HP:0031093	Abnormal breast morphology	79158	GNPTAB	OMIM:252500
HP:0031093	Abnormal breast morphology	9382	COG1	OMIM:611209
HP:0031093	Abnormal breast morphology	3417	IDH1	ORPHA:99646
HP:0031093	Abnormal breast morphology	3190	HNRNPK	OMIM:616580
HP:0031093	Abnormal breast morphology	55870	ASH1L	OMIM:617796
HP:0031093	Abnormal breast morphology	9469	CHST3	OMIM:143095
HP:0031093	Abnormal breast morphology	23511	NUP188	OMIM:618804
HP:0031093	Abnormal breast morphology	2626	GATA4	ORPHA:251071
HP:0031093	Abnormal breast morphology	7020	TFAP2A	OMIM:113620
HP:0031093	Abnormal breast morphology	23116	TOGARAM1	OMIM:619185
HP:0031093	Abnormal breast morphology	7319	UBE2A	OMIM:300860
HP:0031093	Abnormal breast morphology	7319	UBE2A	ORPHA:163956
HP:0031093	Abnormal breast morphology	10087	CERT1	OMIM:616351
HP:0031093	Abnormal breast morphology	8726	EED	OMIM:617561
HP:0031093	Abnormal breast morphology	22884	WDR37	OMIM:618652
HP:0031093	Abnormal breast morphology	372	ARCN1	OMIM:617164
HP:0031093	Abnormal breast morphology	2783	GNB2	OMIM:619503
HP:0031093	Abnormal breast morphology	3930	LBR	OMIM:618019
HP:0031093	Abnormal breast morphology	5826	ABCD4	OMIM:614857
HP:0031093	Abnormal breast morphology	4763	NF1	ORPHA:97685
HP:0031093	Abnormal breast morphology	79718	TBL1XR1	ORPHA:487825
HP:0031093	Abnormal breast morphology	79718	TBL1XR1	OMIM:602342
HP:0031093	Abnormal breast morphology	2074	ERCC6	OMIM:214150
HP:0031093	Abnormal breast morphology	6611	SMS	ORPHA:3063
HP:0031093	Abnormal breast morphology	6611	SMS	OMIM:309583
HP:0031093	Abnormal breast morphology	22931	RAB18	OMIM:614222
HP:0031093	Abnormal breast morphology	92609	TIMM50	OMIM:617698
HP:0031093	Abnormal breast morphology	54499	TMCO1	OMIM:213980
HP:0031093	Abnormal breast morphology	5293	PIK3CD	ORPHA:221139
HP:0031093	Abnormal breast morphology	90417	KNSTRN	ORPHA:221139
HP:0031093	Abnormal breast morphology	8936	WASF1	OMIM:618707
HP:0031093	Abnormal breast morphology	6595	SMARCA2	ORPHA:3051
HP:0031093	Abnormal breast morphology	8567	MADD	OMIM:619004
HP:0031093	Abnormal breast morphology	91875	TTC5	OMIM:619244
HP:0031093	Abnormal breast morphology	5500	PPP1CB	OMIM:617506
HP:0031093	Abnormal breast morphology	9772	TMEM94	OMIM:618316
HP:0031093	Abnormal breast morphology	79971	WLS	OMIM:619648
HP:0031093	Abnormal breast morphology	673	BRAF	OMIM:613707
HP:0031093	Abnormal breast morphology	673	BRAF	OMIM:163950
HP:0031093	Abnormal breast morphology	3911	LAMA5	OMIM:620076
HP:0031093	Abnormal breast morphology	139285	AMER1	OMIM:300373
HP:0031093	Abnormal breast morphology	1376	CPT2	OMIM:608836
HP:0031093	Abnormal breast morphology	84231	TRAF7	OMIM:618164
HP:0031093	Abnormal breast morphology	200205	IBA57	OMIM:615330
HP:0031093	Abnormal breast morphology	284058	KANSL1	OMIM:610443
HP:0031093	Abnormal breast morphology	22800	RRAS2	ORPHA:648
HP:0031093	Abnormal breast morphology	867	CBL	ORPHA:648
HP:0031093	Abnormal breast morphology	867	CBL	OMIM:613563
HP:0031093	Abnormal breast morphology	8216	LZTR1	ORPHA:648
HP:0031093	Abnormal breast morphology	8216	LZTR1	OMIM:605275
HP:0031093	Abnormal breast morphology	6016	RIT1	ORPHA:648
HP:0031093	Abnormal breast morphology	6237	RRAS	ORPHA:648
HP:0031093	Abnormal breast morphology	5894	RAF1	ORPHA:648
HP:0031093	Abnormal breast morphology	22808	MRAS	ORPHA:648
HP:0031093	Abnormal breast morphology	3845	KRAS	ORPHA:648
HP:0031093	Abnormal breast morphology	200734	SPRED2	ORPHA:648
HP:0031093	Abnormal breast morphology	4893	NRAS	ORPHA:648
HP:0031093	Abnormal breast morphology	6654	SOS1	ORPHA:648
HP:0031093	Abnormal breast morphology	6654	SOS1	OMIM:610733
HP:0031093	Abnormal breast morphology	6655	SOS2	ORPHA:648
HP:0031093	Abnormal breast morphology	5781	PTPN11	ORPHA:648
HP:0031093	Abnormal breast morphology	5781	PTPN11	OMIM:163950
HP:0031093	Abnormal breast morphology	5922	RASA2	ORPHA:648
HP:0031093	Abnormal breast morphology	171023	ASXL1	OMIM:605039
HP:0031093	Abnormal breast morphology	8621	CDK13	OMIM:617360
HP:0031093	Abnormal breast morphology	54101	RIPK4	OMIM:263650
HP:0031093	Abnormal breast morphology	9181	ARHGEF2	OMIM:617523
HP:0031093	Abnormal breast morphology	29968	PSAT1	OMIM:616038
HP:0031093	Abnormal breast morphology	6736	SRY	ORPHA:1772
HP:0031093	Abnormal breast morphology	27152	INTU	OMIM:617925
HP:0031093	Abnormal breast morphology	2719	GPC3	OMIM:312870
HP:0031093	Abnormal breast morphology	2239	GPC4	OMIM:312870
HP:0031093	Abnormal breast morphology	55770	EXOC2	OMIM:619306
HP:0031093	Abnormal breast morphology	5604	MAP2K1	OMIM:163950
HP:0031093	Abnormal breast morphology	9897	WASHC5	ORPHA:7
HP:0031093	Abnormal breast morphology	28952	CCDC22	ORPHA:7
HP:0031093	Abnormal breast morphology	284252	KCTD1	OMIM:181270
HP:0031093	Abnormal breast morphology	284252	KCTD1	ORPHA:2036
HP:0031093	Abnormal breast morphology	55697	VAC14	ORPHA:3472
HP:0031093	Abnormal breast morphology	10815	CPLX1	ORPHA:280
HP:0031093	Abnormal breast morphology	54872	PIGG	ORPHA:280
HP:0031093	Abnormal breast morphology	7469	NELFA	ORPHA:280
HP:0031093	Abnormal breast morphology	1487	CTBP1	ORPHA:280
HP:0031093	Abnormal breast morphology	3954	LETM1	ORPHA:280
HP:0031093	Abnormal breast morphology	7468	NSD2	ORPHA:280
HP:0031093	Abnormal breast morphology	1947	EFNB1	ORPHA:1520
HP:0031093	Abnormal breast morphology	23556	PIGN	ORPHA:2059
HP:0031093	Abnormal breast morphology	7473	WNT3	ORPHA:3301
HP:0031093	Abnormal breast morphology	29893	PSMC3IP	ORPHA:243
HP:0031093	Abnormal breast morphology	171568	POLR3H	ORPHA:243
HP:0031093	Abnormal breast morphology	125150	ZSWIM7	ORPHA:243
HP:0031093	Abnormal breast morphology	9210	BMP15	ORPHA:243
HP:0031093	Abnormal breast morphology	57122	NUP107	ORPHA:243
HP:0031093	Abnormal breast morphology	23514	SPIDR	ORPHA:243
HP:0031093	Abnormal breast morphology	2492	FSHR	ORPHA:243
HP:0031093	Abnormal breast morphology	56945	MRPS22	ORPHA:243
HP:0031093	Abnormal breast morphology	646	BNC1	ORPHA:243
HP:0031093	Abnormal breast morphology	5626	PROP1	ORPHA:95494
HP:0031093	Abnormal breast morphology	5626	PROP1	ORPHA:90695
HP:0031093	Abnormal breast morphology	2736	GLI2	ORPHA:95494
HP:0031093	Abnormal breast morphology	89884	LHX4	ORPHA:95494
HP:0031093	Abnormal breast morphology	3170	FOXA2	ORPHA:95494
HP:0031093	Abnormal breast morphology	5449	POU1F1	ORPHA:95494
HP:0031093	Abnormal breast morphology	5015	OTX2	ORPHA:95494
HP:0031093	Abnormal breast morphology	6658	SOX3	ORPHA:90695
HP:0031093	Abnormal breast morphology	5618	PRLR	OMIM:615554
HP:0031093	Abnormal breast morphology	5566	PRKACA	ORPHA:189439
HP:0031093	Abnormal breast morphology	8622	PDE8B	ORPHA:189439
HP:0031093	Abnormal breast morphology	355	FAS	ORPHA:3261
HP:0031093	Abnormal breast morphology	356	FASLG	ORPHA:3261
HP:0031093	Abnormal breast morphology	5580	PRKCD	ORPHA:3261
HP:0031093	Abnormal breast morphology	843	CASP10	ORPHA:3261
HP:0031093	Abnormal breast morphology	10125	RASGRP1	ORPHA:3261
HP:0031093	Abnormal breast morphology	2488	FSHB	ORPHA:52901
HP:0031093	Abnormal breast morphology	51199	NIN	ORPHA:319675
HP:0031093	Abnormal breast morphology	8930	MBD4	OMIM:619975
HP:0031093	Abnormal breast morphology	7403	KDM6A	OMIM:300867
HP:0031093	Abnormal breast morphology	6711	SPTBN1	OMIM:619475
HP:0031093	Abnormal breast morphology	641	BLM	ORPHA:125
HP:0031093	Abnormal breast morphology	64218	SEMA4A	ORPHA:440437
HP:0031093	Abnormal breast morphology	657	BMPR1A	ORPHA:440437
HP:0031093	Abnormal breast morphology	6224	RPS20	ORPHA:440437
HP:0031093	Abnormal breast morphology	65998	ZFTA	ORPHA:251636
HP:0031093	Abnormal breast morphology	5970	RELA	ORPHA:251636
HP:0031093	Abnormal breast morphology	8314	BAP1	ORPHA:618
HP:0031093	Abnormal breast morphology	4286	MITF	ORPHA:618
HP:0031093	Abnormal breast morphology	1019	CDK4	ORPHA:618
HP:0031093	Abnormal breast morphology	4255	MGMT	ORPHA:618
HP:0031093	Abnormal breast morphology	54386	TERF2IP	ORPHA:618
HP:0031093	Abnormal breast morphology	4157	MC1R	ORPHA:618
HP:0031093	Abnormal breast morphology	65057	ACD	ORPHA:618
HP:0031093	Abnormal breast morphology	1029	CDKN2A	ORPHA:618
HP:0031093	Abnormal breast morphology	7015	TERT	ORPHA:618
HP:0031093	Abnormal breast morphology	25913	POT1	ORPHA:618
HP:0031093	Abnormal breast morphology	1030	CDKN2B	ORPHA:618
HP:0031093	Abnormal breast morphology	5728	PTEN	ORPHA:109
HP:0031093	Abnormal breast morphology	5728	PTEN	ORPHA:137608
HP:0031093	Abnormal breast morphology	4000	LMNA	ORPHA:79474
HP:0031093	Abnormal breast morphology	5573	PRKAR1A	ORPHA:1359
HP:0031093	Abnormal breast morphology	50940	PDE11A	ORPHA:1359
HP:0031093	Abnormal breast morphology	5980	REV3L	ORPHA:570
HP:0031093	Abnormal breast morphology	23129	PLXND1	ORPHA:570
HP:0031093	Abnormal breast morphology	8318	CDC45	OMIM:617063
HP:0031093	Abnormal breast morphology	8318	CDC45	ORPHA:2554
HP:0031093	Abnormal breast morphology	1859	DYRK1A	ORPHA:268261
HP:0031093	Abnormal breast morphology	10651	MTX2	ORPHA:90153
HP:0031093	Abnormal breast morphology	990	CDC6	ORPHA:2554
HP:0031093	Abnormal breast morphology	51053	GMNN	ORPHA:2554
HP:0031094	Abnormal breast physiology	5618	PRLR	OMIM:615555
HP:0031094	Abnormal breast physiology	4221	MEN1	ORPHA:652
HP:0031094	Abnormal breast physiology	4221	MEN1	ORPHA:2965
HP:0031094	Abnormal breast physiology	4221	MEN1	ORPHA:99725
HP:0031094	Abnormal breast physiology	1027	CDKN1B	ORPHA:652
HP:0031094	Abnormal breast physiology	1026	CDKN1A	ORPHA:652
HP:0031094	Abnormal breast physiology	1030	CDKN2B	ORPHA:652
HP:0031094	Abnormal breast physiology	1031	CDKN2C	ORPHA:652
HP:0031094	Abnormal breast physiology	64072	CDH23	ORPHA:2965
HP:0031094	Abnormal breast physiology	9049	AIP	ORPHA:2965
HP:0031094	Abnormal breast physiology	9049	AIP	ORPHA:99725
HP:0031094	Abnormal breast physiology	9049	AIP	ORPHA:963
HP:0031094	Abnormal breast physiology	9049	AIP	OMIM:102200
HP:0031094	Abnormal breast physiology	3662	IRF4	ORPHA:3452
HP:0031094	Abnormal breast physiology	83550	GPR101	ORPHA:963
HP:0031095	Abnormal humerus morphology	649	BMP1	OMIM:614856
HP:0031095	Abnormal humerus morphology	90993	CREB3L1	OMIM:616229
HP:0031095	Abnormal humerus morphology	1836	SLC26A2	OMIM:256050
HP:0031095	Abnormal humerus morphology	100151683	RNU4ATAC	OMIM:210710
HP:0031095	Abnormal humerus morphology	3930	LBR	OMIM:618019
HP:0031095	Abnormal humerus morphology	2317	FLNB	OMIM:272460
HP:0031095	Abnormal humerus morphology	6678	SPARC	OMIM:616507
HP:0031095	Abnormal humerus morphology	9851	KIAA0753	OMIM:619479
HP:0031095	Abnormal humerus morphology	3911	LAMA5	OMIM:620076
HP:0031095	Abnormal humerus morphology	126792	B3GALT6	OMIM:609465
HP:0031095	Abnormal humerus morphology	340419	RSPO2	OMIM:618022
HP:0031095	Abnormal humerus morphology	538	ATP7A	ORPHA:198
HP:0031095	Abnormal humerus morphology	10847	SRCAP	ORPHA:2044
HP:0031095	Abnormal humerus morphology	26175	LYSET	OMIM:619345
HP:0031095	Abnormal humerus morphology	1280	COL2A1	ORPHA:166011
HP:0031095	Abnormal humerus morphology	5593	PRKG2	OMIM:619636
HP:0031095	Abnormal humerus morphology	79158	GNPTAB	OMIM:252500
HP:0031096	Delayed vertebral ossification	1280	COL2A1	ORPHA:93296
HP:0031096	Delayed vertebral ossification	579	NKX3-2	OMIM:613330
HP:0031096	Delayed vertebral ossification	168667	BMPER	OMIM:608022
HP:0031097	Abnormal thyroid-stimulating hormone level	83483	PLVAP	OMIM:618183
HP:0031097	Abnormal thyroid-stimulating hormone level	5373	PMM2	ORPHA:79318
HP:0031097	Abnormal thyroid-stimulating hormone level	7840	ALMS1	ORPHA:64
HP:0031097	Abnormal thyroid-stimulating hormone level	51081	MRPS7	OMIM:617872
HP:0031097	Abnormal thyroid-stimulating hormone level	2778	GNAS	OMIM:612462
HP:0031097	Abnormal thyroid-stimulating hormone level	405753	DUOXA2	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	6528	SLC5A5	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	7038	TG	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	7173	TPO	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	389434	IYD	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	50506	DUOX2	ORPHA:95716
HP:0031097	Abnormal thyroid-stimulating hormone level	50506	DUOX2	ORPHA:226316
HP:0031097	Abnormal thyroid-stimulating hormone level	7068	THRB	OMIM:145650
HP:0031097	Abnormal thyroid-stimulating hormone level	7068	THRB	OMIM:274300
HP:0031097	Abnormal thyroid-stimulating hormone level	7355	SLC35A2	ORPHA:356961
HP:0031097	Abnormal thyroid-stimulating hormone level	7080	NKX2-1	ORPHA:209905
HP:0031097	Abnormal thyroid-stimulating hormone level	7080	NKX2-1	OMIM:610978
HP:0031097	Abnormal thyroid-stimulating hormone level	7201	TRHR	ORPHA:99832
HP:0031097	Abnormal thyroid-stimulating hormone level	23137	SMC5	OMIM:620185
HP:0031097	Abnormal thyroid-stimulating hormone level	7849	PAX8	OMIM:218700
HP:0031097	Abnormal thyroid-stimulating hormone level	80067	DCAF17	OMIM:241080
HP:0031097	Abnormal thyroid-stimulating hormone level	6567	SLC16A2	OMIM:300523
HP:0031097	Abnormal thyroid-stimulating hormone level	5159	PDGFRB	OMIM:601812
HP:0031097	Abnormal thyroid-stimulating hormone level	64072	CDH23	ORPHA:91347
HP:0031097	Abnormal thyroid-stimulating hormone level	79048	SECISBP2	ORPHA:171706
HP:0031097	Abnormal thyroid-stimulating hormone level	79048	SECISBP2	OMIM:609698
HP:0031097	Abnormal thyroid-stimulating hormone level	1482	NKX2-5	OMIM:225250
HP:0031097	Abnormal thyroid-stimulating hormone level	169792	GLIS3	OMIM:610199
HP:0031097	Abnormal thyroid-stimulating hormone level	5573	PRKAR1A	OMIM:101800
HP:0031097	Abnormal thyroid-stimulating hormone level	50485	SMARCAL1	OMIM:242900
HP:0031097	Abnormal thyroid-stimulating hormone level	5696	PSMB8	OMIM:256040
HP:0031097	Abnormal thyroid-stimulating hormone level	55186	SLC25A36	OMIM:620211
HP:0031097	Abnormal thyroid-stimulating hormone level	213	ALB	OMIM:615999
HP:0031097	Abnormal thyroid-stimulating hormone level	23312	DMXL2	OMIM:616113
HP:0031097	Abnormal thyroid-stimulating hormone level	7234	TRU-TCA1-1	OMIM:620198
HP:0031097	Abnormal thyroid-stimulating hormone level	5626	PROP1	OMIM:262600
HP:0031097	Abnormal thyroid-stimulating hormone level	5626	PROP1	ORPHA:226307
HP:0031097	Abnormal thyroid-stimulating hormone level	89884	LHX4	ORPHA:226307
HP:0031097	Abnormal thyroid-stimulating hormone level	8022	LHX3	ORPHA:226307
HP:0031097	Abnormal thyroid-stimulating hormone level	5449	POU1F1	ORPHA:226307
HP:0031097	Abnormal thyroid-stimulating hormone level	5449	POU1F1	OMIM:613038
HP:0031097	Abnormal thyroid-stimulating hormone level	8820	HESX1	ORPHA:226307
HP:0031097	Abnormal thyroid-stimulating hormone level	7253	TSHR	OMIM:609152
HP:0031097	Abnormal thyroid-stimulating hormone level	7253	TSHR	OMIM:603373
HP:0031097	Abnormal thyroid-stimulating hormone level	5015	OTX2	OMIM:613986
HP:0031097	Abnormal thyroid-stimulating hormone level	1363	CPE	OMIM:619326
HP:0031097	Abnormal thyroid-stimulating hormone level	100134444	KCNJ18	OMIM:613239
HP:0031097	Abnormal thyroid-stimulating hormone level	7252	TSHB	OMIM:275100
HP:0031097	Abnormal thyroid-stimulating hormone level	7252	TSHB	ORPHA:90674
HP:0031097	Abnormal thyroid-stimulating hormone level	8471	IRS4	OMIM:301035
HP:0031097	Abnormal thyroid-stimulating hormone level	6907	TBL1X	OMIM:301033
HP:0031097	Abnormal thyroid-stimulating hormone level	3547	IGSF1	OMIM:300888
HP:0031098	Decreased thyroid-stimulating hormone level	5626	PROP1	OMIM:262600
HP:0031098	Decreased thyroid-stimulating hormone level	5626	PROP1	ORPHA:226307
HP:0031098	Decreased thyroid-stimulating hormone level	89884	LHX4	ORPHA:226307
HP:0031098	Decreased thyroid-stimulating hormone level	8022	LHX3	ORPHA:226307
HP:0031098	Decreased thyroid-stimulating hormone level	5449	POU1F1	ORPHA:226307
HP:0031098	Decreased thyroid-stimulating hormone level	5449	POU1F1	OMIM:613038
HP:0031098	Decreased thyroid-stimulating hormone level	8820	HESX1	ORPHA:226307
HP:0031098	Decreased thyroid-stimulating hormone level	7253	TSHR	OMIM:609152
HP:0031098	Decreased thyroid-stimulating hormone level	7253	TSHR	OMIM:603373
HP:0031098	Decreased thyroid-stimulating hormone level	5015	OTX2	OMIM:613986
HP:0031098	Decreased thyroid-stimulating hormone level	1363	CPE	OMIM:619326
HP:0031098	Decreased thyroid-stimulating hormone level	100134444	KCNJ18	OMIM:613239
HP:0031098	Decreased thyroid-stimulating hormone level	7252	TSHB	OMIM:275100
HP:0031098	Decreased thyroid-stimulating hormone level	7252	TSHB	ORPHA:90674
HP:0031099	Abnormal circulating inhibin level	6638	SNRPN	ORPHA:177904
HP:0031099	Abnormal circulating inhibin level	6638	SNRPN	ORPHA:177901
HP:0031099	Abnormal circulating inhibin level	6638	SNRPN	ORPHA:98754
HP:0031099	Abnormal circulating inhibin level	4692	NDN	ORPHA:177904
HP:0031099	Abnormal circulating inhibin level	4692	NDN	ORPHA:177901
HP:0031099	Abnormal circulating inhibin level	4692	NDN	ORPHA:98754
HP:0031099	Abnormal circulating inhibin level	54551	MAGEL2	ORPHA:177904
HP:0031099	Abnormal circulating inhibin level	54551	MAGEL2	ORPHA:177901
HP:0031099	Abnormal circulating inhibin level	54551	MAGEL2	ORPHA:98754
HP:0031099	Abnormal circulating inhibin level	4948	OCA2	ORPHA:177904
HP:0031099	Abnormal circulating inhibin level	4948	OCA2	ORPHA:177901
HP:0031099	Abnormal circulating inhibin level	4948	OCA2	ORPHA:98754
HP:0031099	Abnormal circulating inhibin level	7516	XRCC2	OMIM:619146
HP:0031099	Abnormal circulating inhibin level	5447	POR	ORPHA:95699
HP:0012900	Myotonia of the face	6329	SCN4A	ORPHA:684
HP:0012900	Myotonia of the face	6329	SCN4A	ORPHA:99734
HP:0012901	Myotonia of the jaw	6329	SCN4A	ORPHA:684
HP:0012902	Myotonia of the lower limb	6329	SCN4A	ORPHA:99734
HP:0012903	Myotonia of the upper limb	6329	SCN4A	ORPHA:684
HP:0012903	Myotonia of the upper limb	6329	SCN4A	ORPHA:99734
HP:0012904	Cold-sensitive myotonia	6329	SCN4A	ORPHA:684
HP:0012904	Cold-sensitive myotonia	6329	SCN4A	ORPHA:99734
HP:0012905	Euryblepharon	1748	DLX4	OMIM:616788
HP:0012905	Euryblepharon	1857	DVL3	ORPHA:3107
HP:0012905	Euryblepharon	7474	WNT5A	ORPHA:3107
HP:0012905	Euryblepharon	1855	DVL1	ORPHA:3107
HP:0012905	Euryblepharon	2535	FZD2	ORPHA:3107
HP:0012905	Euryblepharon	999	CDH1	OMIM:119580
HP:0012905	Euryblepharon	999	CDH1	ORPHA:1997
HP:0012905	Euryblepharon	1500	CTNND1	OMIM:617681
HP:0012905	Euryblepharon	1500	CTNND1	ORPHA:1997
HP:0012905	Euryblepharon	71	ACTG1	ORPHA:2995
HP:0012905	Euryblepharon	60	ACTB	ORPHA:2995
HP:0002700	Large foramen magnum	1387	CREBBP	OMIM:180849
HP:0002700	Large foramen magnum	2033	EP300	OMIM:180849
HP:0002700	Large foramen magnum	29899	GPSM2	OMIM:604213
HP:0002700	Large foramen magnum	2316	FLNA	OMIM:305620
HP:0002700	Large foramen magnum	860	RUNX2	OMIM:119600
HP:0002700	Large foramen magnum	51715	RAB23	OMIM:201000
HP:0005474	Decreased calvarial ossification	9896	FIG4	OMIM:216340
HP:0005474	Decreased calvarial ossification	249	ALPL	OMIM:241500
HP:0005474	Decreased calvarial ossification	2263	FGFR2	OMIM:614592
HP:0005474	Decreased calvarial ossification	2263	FGFR2	ORPHA:313855
HP:0005474	Decreased calvarial ossification	5530	PPP3CA	OMIM:618265
HP:0005474	Decreased calvarial ossification	112752	IFT43	OMIM:617866
HP:0005474	Decreased calvarial ossification	10491	CRTAP	OMIM:610682
HP:0005474	Decreased calvarial ossification	27152	INTU	OMIM:617925
HP:0005474	Decreased calvarial ossification	90993	CREB3L1	OMIM:616229
HP:0005474	Decreased calvarial ossification	79770	TXNDC15	OMIM:619879
HP:0005474	Decreased calvarial ossification	7476	WNT7A	OMIM:276820
HP:0005474	Decreased calvarial ossification	5479	PPIB	OMIM:259440
HP:0005474	Decreased calvarial ossification	871	SERPINH1	OMIM:613848
HP:0005474	Decreased calvarial ossification	10269	ZMPSTE24	OMIM:275210
HP:0005474	Decreased calvarial ossification	3911	LAMA5	OMIM:620076
HP:0005474	Decreased calvarial ossification	64175	P3H1	OMIM:610915
HP:0005474	Decreased calvarial ossification	1277	COL1A1	OMIM:166210
HP:0005474	Decreased calvarial ossification	1278	COL1A2	OMIM:166210
HP:0002703	Abnormality of skull ossification	6448	SGSH	OMIM:252900
HP:0002703	Abnormality of skull ossification	138050	HGSNAT	OMIM:252930
HP:0002703	Abnormality of skull ossification	4669	NAGLU	OMIM:252920
HP:0002703	Abnormality of skull ossification	55733	HHAT	ORPHA:1422
HP:0002703	Abnormality of skull ossification	5934	RBL2	OMIM:619690
HP:0002703	Abnormality of skull ossification	1436	CSF1R	OMIM:618476
HP:0002703	Abnormality of skull ossification	28962	OSTM1	ORPHA:85179
HP:0002703	Abnormality of skull ossification	3930	LBR	OMIM:215140
HP:0002703	Abnormality of skull ossification	3930	LBR	ORPHA:1426
HP:0002703	Abnormality of skull ossification	9321	TRIP11	OMIM:200600
HP:0002703	Abnormality of skull ossification	6905	TBCE	OMIM:244460
HP:0002703	Abnormality of skull ossification	6905	TBCE	ORPHA:93324
HP:0002703	Abnormality of skull ossification	10484	SEC23A	ORPHA:50814
HP:0002703	Abnormality of skull ossification	4000	LMNA	ORPHA:1662
HP:0002703	Abnormality of skull ossification	10269	ZMPSTE24	ORPHA:1662
HP:0002703	Abnormality of skull ossification	2132	EXT2	ORPHA:52022
HP:0002703	Abnormality of skull ossification	60529	ALX4	ORPHA:52022
HP:0002703	Abnormality of skull ossification	51317	PHF21A	ORPHA:52022
HP:0002703	Abnormality of skull ossification	9896	FIG4	OMIM:216340
HP:0002703	Abnormality of skull ossification	9896	FIG4	ORPHA:3472
HP:0002703	Abnormality of skull ossification	55697	VAC14	ORPHA:3472
HP:0002703	Abnormality of skull ossification	10013	HDAC6	OMIM:300863
HP:0002703	Abnormality of skull ossification	79796	ALG9	OMIM:263210
HP:0002703	Abnormality of skull ossification	202018	TAPT1	OMIM:616897
HP:0002703	Abnormality of skull ossification	4352	MPL	ORPHA:3319
HP:0002703	Abnormality of skull ossification	7066	THPO	ORPHA:3319
HP:0002703	Abnormality of skull ossification	860	RUNX2	ORPHA:1452
HP:0002703	Abnormality of skull ossification	84168	ANTXR1	ORPHA:2067
HP:0002703	Abnormality of skull ossification	4853	NOTCH2	ORPHA:955
HP:0002703	Abnormality of skull ossification	60386	SLC25A19	ORPHA:99742
HP:0002703	Abnormality of skull ossification	63901	FAM111A	ORPHA:93325
HP:0002703	Abnormality of skull ossification	63901	FAM111A	OMIM:602361
HP:0002703	Abnormality of skull ossification	29957	SLC25A24	ORPHA:2963
HP:0002703	Abnormality of skull ossification	168667	BMPER	OMIM:608022
HP:0002703	Abnormality of skull ossification	64175	P3H1	OMIM:610915
HP:0002703	Abnormality of skull ossification	7415	VCP	ORPHA:329475
HP:0002703	Abnormality of skull ossification	1280	COL2A1	OMIM:151210
HP:0002703	Abnormality of skull ossification	249	ALPL	OMIM:241500
HP:0002703	Abnormality of skull ossification	2263	FGFR2	OMIM:614592
HP:0002703	Abnormality of skull ossification	2263	FGFR2	ORPHA:313855
HP:0002703	Abnormality of skull ossification	5530	PPP3CA	OMIM:618265
HP:0002703	Abnormality of skull ossification	112752	IFT43	OMIM:617866
HP:0002703	Abnormality of skull ossification	10491	CRTAP	OMIM:610682
HP:0002703	Abnormality of skull ossification	27152	INTU	OMIM:617925
HP:0002703	Abnormality of skull ossification	90993	CREB3L1	OMIM:616229
HP:0002703	Abnormality of skull ossification	79770	TXNDC15	OMIM:619879
HP:0002703	Abnormality of skull ossification	7476	WNT7A	OMIM:276820
HP:0002703	Abnormality of skull ossification	5479	PPIB	OMIM:259440
HP:0002703	Abnormality of skull ossification	871	SERPINH1	OMIM:613848
HP:0002703	Abnormality of skull ossification	3911	LAMA5	OMIM:620076
HP:0002703	Abnormality of skull ossification	1277	COL1A1	OMIM:166210
HP:0002703	Abnormality of skull ossification	1278	COL1A2	OMIM:166210
HP:0002705	High, narrow palate	5979	RET	OMIM:162300
HP:0002705	High, narrow palate	23013	SPEN	OMIM:619312
HP:0002705	High, narrow palate	8367	H4C5	OMIM:619950
HP:0002705	High, narrow palate	161742	SPRED1	OMIM:611431
HP:0002705	High, narrow palate	23394	ADNP	OMIM:615873
HP:0002705	High, narrow palate	2261	FGFR3	ORPHA:53271
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:284979
HP:0002705	High, narrow palate	2200	FBN1	OMIM:616914
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:2462
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:91387
HP:0002705	High, narrow palate	5447	POR	ORPHA:95699
HP:0002705	High, narrow palate	3190	HNRNPK	ORPHA:453504
HP:0002705	High, narrow palate	3190	HNRNPK	ORPHA:352665
HP:0002705	High, narrow palate	1301	COL11A1	OMIM:604841
HP:0002705	High, narrow palate	116931	MED12L	OMIM:618872
HP:0002705	High, narrow palate	91179	SCARF2	OMIM:600920
HP:0002705	High, narrow palate	58	ACTA1	ORPHA:171433
HP:0002705	High, narrow palate	4703	NEB	ORPHA:171433
HP:0002705	High, narrow palate	10324	KLHL41	ORPHA:171433
HP:0002705	High, narrow palate	7170	TPM3	ORPHA:171433
HP:0002705	High, narrow palate	613	BCR	ORPHA:261330
HP:0002705	High, narrow palate	1399	CRKL	ORPHA:261330
HP:0002705	High, narrow palate	5594	MAPK1	ORPHA:261330
HP:0002705	High, narrow palate	57520	HECW2	OMIM:617268
HP:0002705	High, narrow palate	51506	UFC1	OMIM:618076
HP:0002705	High, narrow palate	5830	PEX5	OMIM:202370
HP:0002705	High, narrow palate	129563	DIS3L2	ORPHA:2849
HP:0002705	High, narrow palate	137682	NDUFAF6	OMIM:618239
HP:0002705	High, narrow palate	55780	ERMARD	ORPHA:75857
HP:0002705	High, narrow palate	26153	KIF26A	OMIM:620156
HP:0002705	High, narrow palate	5189	PEX1	OMIM:214100
HP:0002705	High, narrow palate	4038	LRP4	ORPHA:3258
HP:0002705	High, narrow palate	324	APC	ORPHA:3258
HP:0002705	High, narrow palate	57551	TAOK1	OMIM:619575
HP:0002705	High, narrow palate	8888	MCM3AP	OMIM:618124
HP:0002705	High, narrow palate	64324	NSD1	OMIM:117550
HP:0002705	High, narrow palate	4141	MARS1	OMIM:619692
HP:0002705	High, narrow palate	1272	CNTN1	OMIM:612540
HP:0002705	High, narrow palate	81857	MED25	ORPHA:464738
HP:0002705	High, narrow palate	93986	FOXP2	ORPHA:209908
HP:0002705	High, narrow palate	2260	FGFR1	OMIM:190440
HP:0002705	High, narrow palate	84100	ARL6	OMIM:209900
HP:0002705	High, narrow palate	79140	CCDC28B	OMIM:209900
HP:0002705	High, narrow palate	582	BBS1	OMIM:209900
HP:0002705	High, narrow palate	5351	PLOD1	ORPHA:1900
HP:0002705	High, narrow palate	81620	CDT1	ORPHA:2554
HP:0002705	High, narrow palate	5000	ORC4	ORPHA:2554
HP:0002705	High, narrow palate	23594	ORC6	ORPHA:2554
HP:0002705	High, narrow palate	8318	CDC45	ORPHA:2554
HP:0002705	High, narrow palate	990	CDC6	ORPHA:2554
HP:0002705	High, narrow palate	4998	ORC1	ORPHA:2554
HP:0002705	High, narrow palate	51053	GMNN	ORPHA:2554
HP:0002705	High, narrow palate	55764	IFT122	OMIM:218330
HP:0002705	High, narrow palate	157680	VPS13B	OMIM:216550
HP:0002705	High, narrow palate	157680	VPS13B	ORPHA:193
HP:0002705	High, narrow palate	8604	SLC25A12	OMIM:612949
HP:0002705	High, narrow palate	6899	TBX1	OMIM:188400
HP:0002705	High, narrow palate	1281	COL3A1	ORPHA:286
HP:0002705	High, narrow palate	9896	FIG4	ORPHA:3472
HP:0002705	High, narrow palate	55697	VAC14	ORPHA:3472
HP:0002705	High, narrow palate	860	RUNX2	OMIM:119600
HP:0002705	High, narrow palate	860	RUNX2	ORPHA:1452
HP:0002705	High, narrow palate	1822	ATN1	OMIM:618494
HP:0002705	High, narrow palate	51305	KCNK9	ORPHA:166108
HP:0002705	High, narrow palate	4854	NOTCH3	ORPHA:2789
HP:0002705	High, narrow palate	93627	TBCK	ORPHA:488632
HP:0002705	High, narrow palate	1954	MEGF8	OMIM:614976
HP:0002705	High, narrow palate	200734	SPRED2	OMIM:619745
HP:0002705	High, narrow palate	89910	UBE3B	ORPHA:2707
HP:0002705	High, narrow palate	5728	PTEN	ORPHA:79076
HP:0002705	High, narrow palate	657	BMPR1A	ORPHA:79076
HP:0002705	High, narrow palate	25942	SIN3A	OMIM:613406
HP:0002705	High, narrow palate	139285	AMER1	ORPHA:2780
HP:0002705	High, narrow palate	9401	RECQL4	OMIM:266280
HP:0002705	High, narrow palate	10755	GIPC1	ORPHA:98897
HP:0002705	High, narrow palate	100996717	NOTCH2NLC	ORPHA:98897
HP:0002705	High, narrow palate	6885	MAP3K7	ORPHA:3238
HP:0002705	High, narrow palate	538	ATP7A	ORPHA:198
HP:0002705	High, narrow palate	8260	NAA10	OMIM:309800
HP:0002705	High, narrow palate	8260	NAA10	ORPHA:276432
HP:0002705	High, narrow palate	54880	BCOR	OMIM:309800
HP:0002705	High, narrow palate	4593	MUSK	OMIM:208150
HP:0002705	High, narrow palate	388662	SLC6A17	ORPHA:457212
HP:0002705	High, narrow palate	10526	IPO8	OMIM:619472
HP:0002705	High, narrow palate	8558	CDK10	OMIM:617694
HP:0002705	High, narrow palate	51604	PIGT	ORPHA:369837
HP:0002705	High, narrow palate	6711	SPTBN1	OMIM:619475
HP:0002705	High, narrow palate	56006	SMG9	OMIM:616920
HP:0002705	High, narrow palate	1387	CREBBP	OMIM:180849
HP:0002705	High, narrow palate	2033	EP300	OMIM:180849
HP:0002705	High, narrow palate	1857	DVL3	ORPHA:3107
HP:0002705	High, narrow palate	7474	WNT5A	ORPHA:3107
HP:0002705	High, narrow palate	1855	DVL1	ORPHA:3107
HP:0002705	High, narrow palate	2535	FZD2	ORPHA:3107
HP:0002705	High, narrow palate	27125	AFF4	OMIM:616368
HP:0002705	High, narrow palate	9791	PTDSS1	ORPHA:2658
HP:0002705	High, narrow palate	29957	SLC25A24	OMIM:612289
HP:0002705	High, narrow palate	1303	COL12A1	ORPHA:536516
HP:0002705	High, narrow palate	2887	GRB10	ORPHA:96182
HP:0002705	High, narrow palate	6595	SMARCA2	ORPHA:3051
HP:0002705	High, narrow palate	6595	SMARCA2	OMIM:601358
HP:0002705	High, narrow palate	6872	TAF1	OMIM:300966
HP:0002705	High, narrow palate	368	ABCC6	OMIM:177850
HP:0002705	High, narrow palate	83479	DDX59	ORPHA:2919
HP:0002705	High, narrow palate	4841	NONO	OMIM:300967
HP:0002705	High, narrow palate	4841	NONO	ORPHA:466791
HP:0002705	High, narrow palate	56098	PCDHGC4	OMIM:619880
HP:0002705	High, narrow palate	63895	PIEZO2	OMIM:248700
HP:0002705	High, narrow palate	8813	DPM1	OMIM:608799
HP:0002705	High, narrow palate	8813	DPM1	ORPHA:79322
HP:0002705	High, narrow palate	2239	GPC4	ORPHA:373
HP:0002705	High, narrow palate	2719	GPC3	ORPHA:373
HP:0002705	High, narrow palate	1315	COPB1	OMIM:619255
HP:0002705	High, narrow palate	84168	ANTXR1	OMIM:230740
HP:0002705	High, narrow palate	7476	WNT7A	ORPHA:2879
HP:0002705	High, narrow palate	6611	SMS	OMIM:309583
HP:0002705	High, narrow palate	25836	NIPBL	OMIM:122470
HP:0002705	High, narrow palate	10020	GNE	ORPHA:3166
HP:0002705	High, narrow palate	404672	GTF2H5	ORPHA:33364
HP:0002705	High, narrow palate	833	CARS1	ORPHA:33364
HP:0002705	High, narrow palate	2068	ERCC2	ORPHA:33364
HP:0002705	High, narrow palate	7737	RNF113A	ORPHA:33364
HP:0002705	High, narrow palate	136647	MPLKIP	ORPHA:33364
HP:0002705	High, narrow palate	6897	TARS1	ORPHA:33364
HP:0002705	High, narrow palate	2071	ERCC3	ORPHA:33364
HP:0002705	High, narrow palate	2961	GTF2E2	ORPHA:33364
HP:0002705	High, narrow palate	1376	CPT2	ORPHA:228308
HP:0002705	High, narrow palate	26123	TCTN3	ORPHA:2753
HP:0002705	High, narrow palate	9897	WASHC5	ORPHA:7
HP:0002705	High, narrow palate	28952	CCDC22	ORPHA:7
HP:0002705	High, narrow palate	101929726	MYMX	OMIM:619941
HP:0002705	High, narrow palate	6497	SKI	ORPHA:2462
HP:0002705	High, narrow palate	196528	ARID2	OMIM:617808
HP:0002705	High, narrow palate	27445	PCLO	OMIM:608027
HP:0002705	High, narrow palate	7042	TGFB2	OMIM:614816
HP:0002705	High, narrow palate	7042	TGFB2	ORPHA:91387
HP:0002705	High, narrow palate	27152	INTU	OMIM:617926
HP:0002705	High, narrow palate	4629	MYH11	ORPHA:91387
HP:0002705	High, narrow palate	7046	TGFBR1	ORPHA:91387
HP:0002705	High, narrow palate	7048	TGFBR2	ORPHA:91387
HP:0002705	High, narrow palate	4015	LOX	ORPHA:91387
HP:0002705	High, narrow palate	4087	SMAD2	ORPHA:91387
HP:0002705	High, narrow palate	7043	TGFB3	ORPHA:91387
HP:0002705	High, narrow palate	4088	SMAD3	ORPHA:91387
HP:0002705	High, narrow palate	4089	SMAD4	ORPHA:91387
HP:0002705	High, narrow palate	59	ACTA2	ORPHA:91387
HP:0002705	High, narrow palate	5592	PRKG1	ORPHA:91387
HP:0002705	High, narrow palate	2301	FOXE3	ORPHA:91387
HP:0002705	High, narrow palate	4144	MAT2A	ORPHA:91387
HP:0002705	High, narrow palate	23493	HEY2	ORPHA:91387
HP:0002705	High, narrow palate	8076	MFAP5	ORPHA:91387
HP:0002705	High, narrow palate	4638	MYLK	ORPHA:91387
HP:0002705	High, narrow palate	2006	ELN	ORPHA:91387
HP:0002705	High, narrow palate	80816	ASXL3	ORPHA:352577
HP:0002705	High, narrow palate	5604	MAP2K1	OMIM:163950
HP:0002705	High, narrow palate	5781	PTPN11	OMIM:163950
HP:0002705	High, narrow palate	673	BRAF	OMIM:163950
HP:0000586	Shallow orbits	79158	GNPTAB	ORPHA:576
HP:0000586	Shallow orbits	6497	SKI	OMIM:182212
HP:0000586	Shallow orbits	4784	NFIX	OMIM:602535
HP:0000586	Shallow orbits	3763	KCNJ6	ORPHA:435628
HP:0000586	Shallow orbits	3763	KCNJ6	OMIM:614098
HP:0000586	Shallow orbits	8925	HERC1	ORPHA:457359
HP:0000586	Shallow orbits	3190	HNRNPK	OMIM:616580
HP:0000586	Shallow orbits	3190	HNRNPK	ORPHA:352665
HP:0000586	Shallow orbits	3190	HNRNPK	ORPHA:453504
HP:0000586	Shallow orbits	5034	P4HB	OMIM:112240
HP:0000586	Shallow orbits	57061	HYMAI	ORPHA:96191
HP:0000586	Shallow orbits	5325	PLAGL1	ORPHA:96191
HP:0000586	Shallow orbits	2260	FGFR1	OMIM:166250
HP:0000586	Shallow orbits	2260	FGFR1	OMIM:101600
HP:0000586	Shallow orbits	775	CACNA1C	OMIM:620029
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:123500
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101600
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101400
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101200
HP:0000586	Shallow orbits	5727	PTCH1	OMIM:610828
HP:0000586	Shallow orbits	157570	ESCO2	OMIM:268300
HP:0000586	Shallow orbits	79796	ALG9	ORPHA:79328
HP:0000586	Shallow orbits	4000	LMNA	ORPHA:740
HP:0000586	Shallow orbits	10269	ZMPSTE24	ORPHA:740
HP:0000586	Shallow orbits	5422	POLA1	OMIM:301030
HP:0000586	Shallow orbits	2200	FBN1	OMIM:608328
HP:0000586	Shallow orbits	3636	INPPL1	OMIM:258480
HP:0000586	Shallow orbits	4094	MAF	ORPHA:1272
HP:0000586	Shallow orbits	221496	LEMD2	OMIM:619322
HP:0000586	Shallow orbits	2317	FLNB	OMIM:150250
HP:0000586	Shallow orbits	5159	PDGFRB	OMIM:601812
HP:0000586	Shallow orbits	10651	MTX2	OMIM:619127
HP:0000586	Shallow orbits	8985	PLOD3	OMIM:612394
HP:0000586	Shallow orbits	7291	TWIST1	OMIM:101400
HP:0000586	Shallow orbits	7291	TWIST1	OMIM:180750
HP:0000586	Shallow orbits	23729	SHPK	ORPHA:440713
HP:0000586	Shallow orbits	4286	MITF	OMIM:617306
HP:0000586	Shallow orbits	25942	SIN3A	OMIM:613406
HP:0000586	Shallow orbits	26040	SETBP1	OMIM:269150
HP:0000586	Shallow orbits	26040	SETBP1	ORPHA:798
HP:0000586	Shallow orbits	871	SERPINH1	OMIM:613848
HP:0000586	Shallow orbits	81794	ADAMTS10	OMIM:277600
HP:0002707	Palate telangiectasia	94	ACVRL1	OMIM:600376
HP:0002707	Palate telangiectasia	2022	ENG	OMIM:187300
HP:0002708	Prominent median palatal raphe	79718	TBL1XR1	OMIM:602342
HP:0002708	Prominent median palatal raphe	6469	SHH	OMIM:147250
HP:0000217	Xerostomia	6335	SCN9A	OMIM:133020
HP:0000217	Xerostomia	9071	CLDN10	OMIM:617671
HP:0000217	Xerostomia	64834	ELOVL1	OMIM:618527
HP:0000217	Xerostomia	2263	FGFR2	OMIM:149730
HP:0000217	Xerostomia	2263	FGFR2	ORPHA:2363
HP:0000217	Xerostomia	54551	MAGEL2	ORPHA:398069
HP:0000217	Xerostomia	128178	EDARADD	OMIM:614941
HP:0000217	Xerostomia	25978	CHMP2B	ORPHA:803
HP:0000217	Xerostomia	3178	HNRNPA1	ORPHA:803
HP:0000217	Xerostomia	8148	TAF15	ORPHA:803
HP:0000217	Xerostomia	5445	PON2	ORPHA:803
HP:0000217	Xerostomia	9217	VAPB	ORPHA:803
HP:0000217	Xerostomia	8878	SQSTM1	ORPHA:803
HP:0000217	Xerostomia	5630	PRPH	ORPHA:803
HP:0000217	Xerostomia	29110	TBK1	ORPHA:803
HP:0000217	Xerostomia	55830	GLT8D1	ORPHA:803
HP:0000217	Xerostomia	755	CFAP410	ORPHA:803
HP:0000217	Xerostomia	10891	PPARGC1A	ORPHA:803
HP:0000217	Xerostomia	6647	SOD1	ORPHA:803
HP:0000217	Xerostomia	10133	OPTN	ORPHA:803
HP:0000217	Xerostomia	1639	DCTN1	ORPHA:803
HP:0000217	Xerostomia	9896	FIG4	ORPHA:803
HP:0000217	Xerostomia	5444	PON1	ORPHA:803
HP:0000217	Xerostomia	5446	PON3	ORPHA:803
HP:0000217	Xerostomia	4744	NEFH	ORPHA:803
HP:0000217	Xerostomia	5216	PFN1	ORPHA:803
HP:0000217	Xerostomia	9782	MATR3	ORPHA:803
HP:0000217	Xerostomia	54209	TREM2	ORPHA:803
HP:0000217	Xerostomia	7415	VCP	ORPHA:803
HP:0000217	Xerostomia	283	ANG	ORPHA:803
HP:0000217	Xerostomia	23435	TARDBP	ORPHA:803
HP:0000217	Xerostomia	29978	UBQLN2	ORPHA:803
HP:0000217	Xerostomia	2733	GLE1	ORPHA:803
HP:0000217	Xerostomia	2521	FUS	ORPHA:803
HP:0000217	Xerostomia	4750	NEK1	ORPHA:803
HP:0000217	Xerostomia	2043	EPHA4	ORPHA:803
HP:0000217	Xerostomia	6311	ATXN2	ORPHA:803
HP:0000217	Xerostomia	1610	DAO	ORPHA:803
HP:0000217	Xerostomia	2066	ERBB4	ORPHA:803
HP:0000217	Xerostomia	311	ANXA11	ORPHA:803
HP:0000217	Xerostomia	23025	UNC13A	ORPHA:803
HP:0000217	Xerostomia	899	CCNF	ORPHA:803
HP:0000217	Xerostomia	400916	CHCHD10	ORPHA:803
HP:0000217	Xerostomia	64127	NOD2	ORPHA:90340
HP:0000217	Xerostomia	64127	NOD2	OMIM:617321
HP:0000217	Xerostomia	8626	TP63	OMIM:604292
HP:0000217	Xerostomia	8626	TP63	ORPHA:1896
HP:0000217	Xerostomia	1131	CHRM3	OMIM:100100
HP:0000217	Xerostomia	2255	FGF10	OMIM:180920
HP:0000217	Xerostomia	2255	FGF10	OMIM:620193
HP:0000217	Xerostomia	2255	FGF10	ORPHA:2363
HP:0000217	Xerostomia	6558	SLC12A2	OMIM:619080
HP:0000217	Xerostomia	2934	GSN	ORPHA:85448
HP:0000217	Xerostomia	6492	SIM1	ORPHA:398079
HP:0000217	Xerostomia	1235	CCR6	ORPHA:220393
HP:0000217	Xerostomia	1490	CCN2	ORPHA:220393
HP:0000217	Xerostomia	3663	IRF5	ORPHA:220393
HP:0000217	Xerostomia	857	CAV1	ORPHA:220393
HP:0000217	Xerostomia	3123	HLA-DRB1	ORPHA:220393
HP:0000217	Xerostomia	2261	FGFR3	ORPHA:2363
HP:0000217	Xerostomia	3930	LBR	ORPHA:779
HP:0002710	Commissural lip pit	54101	RIPK4	ORPHA:1401
HP:0002710	Commissural lip pit	54101	RIPK4	OMIM:214350
HP:0002710	Commissural lip pit	6495	SIX1	OMIM:608389
HP:0002711	Exaggerated median tongue furrow	3190	HNRNPK	ORPHA:453504
HP:0002711	Exaggerated median tongue furrow	3190	HNRNPK	ORPHA:352665
HP:0002711	Exaggerated median tongue furrow	6660	SOX5	ORPHA:313892
HP:0002711	Exaggerated median tongue furrow	2719	GPC3	OMIM:312870
HP:0002711	Exaggerated median tongue furrow	2239	GPC4	OMIM:312870
HP:0007328	Impaired pain sensation	9759	HDAC4	OMIM:600430
HP:0007328	Impaired pain sensation	253738	EBF3	OMIM:617330
HP:0007328	Impaired pain sensation	55768	NGLY1	OMIM:615273
HP:0007328	Impaired pain sensation	8242	KDM5C	OMIM:300534
HP:0007328	Impaired pain sensation	2892	GRIA3	ORPHA:364028
HP:0007328	Impaired pain sensation	8218	CLTCL1	ORPHA:453510
HP:0007328	Impaired pain sensation	55699	IARS2	OMIM:616007
HP:0007328	Impaired pain sensation	85446	ZFHX2	OMIM:147430
HP:0007328	Impaired pain sensation	7204	TRIO	OMIM:618825
HP:0007328	Impaired pain sensation	7204	TRIO	OMIM:617061
HP:0007328	Impaired pain sensation	4803	NGF	ORPHA:64752
HP:0007328	Impaired pain sensation	4803	NGF	OMIM:608654
HP:0007328	Impaired pain sensation	4914	NTRK1	ORPHA:64752
HP:0007328	Impaired pain sensation	4914	NTRK1	ORPHA:642
HP:0007328	Impaired pain sensation	4914	NTRK1	OMIM:256800
HP:0007328	Impaired pain sensation	59335	PRDM12	OMIM:616488
HP:0007328	Impaired pain sensation	10059	DNM1L	OMIM:614388
HP:0007328	Impaired pain sensation	4358	MPV17	OMIM:256810
HP:0007328	Impaired pain sensation	781	CACNA2D1	OMIM:620149
HP:0007328	Impaired pain sensation	80036	TRPM3	OMIM:620224
HP:0007328	Impaired pain sensation	55775	TDP1	ORPHA:94124
HP:0007328	Impaired pain sensation	4204	MECP2	OMIM:300260
HP:0007328	Impaired pain sensation	80821	DDHD1	ORPHA:101008
HP:0007328	Impaired pain sensation	6335	SCN9A	OMIM:243000
HP:0007328	Impaired pain sensation	219854	TMEM218	OMIM:619562
HP:0007328	Impaired pain sensation	11280	SCN11A	OMIM:615548
HP:0007328	Impaired pain sensation	10522	DEAF1	OMIM:615828
HP:0007328	Impaired pain sensation	10558	SPTLC1	ORPHA:36386
HP:0007328	Impaired pain sensation	25923	ATL3	ORPHA:36386
HP:0007328	Impaired pain sensation	9517	SPTLC2	ORPHA:36386
HP:0007328	Impaired pain sensation	51062	ATL1	ORPHA:36386
HP:0007328	Impaired pain sensation	9131	AIFM1	ORPHA:101078
HP:0007328	Impaired pain sensation	87178	PNPT1	ORPHA:101111
HP:0007328	Impaired pain sensation	87178	PNPT1	OMIM:608703
HP:0007328	Impaired pain sensation	8518	ELP1	ORPHA:1764
HP:0007328	Impaired pain sensation	22948	CCT5	ORPHA:139578
HP:0007328	Impaired pain sensation	7415	VCP	ORPHA:435387
HP:0007328	Impaired pain sensation	4010	LMX1B	ORPHA:2614
HP:0007328	Impaired pain sensation	19	ABCA1	OMIM:205400
HP:0007328	Impaired pain sensation	5165	PDK3	OMIM:300905
HP:0007328	Impaired pain sensation	4747	NEFL	OMIM:607684
HP:0007328	Impaired pain sensation	4747	NEFL	ORPHA:101085
HP:0007328	Impaired pain sensation	85358	SHANK3	OMIM:606232
HP:0007328	Impaired pain sensation	85358	SHANK3	ORPHA:48652
HP:0007328	Impaired pain sensation	2705	GJB1	ORPHA:101075
HP:0007328	Impaired pain sensation	7681	MKRN3	OMIM:176270
HP:0007328	Impaired pain sensation	3653	IPW	OMIM:176270
HP:0007328	Impaired pain sensation	54551	MAGEL2	OMIM:176270
HP:0007328	Impaired pain sensation	791114	PWRN1	OMIM:176270
HP:0007328	Impaired pain sensation	100033413	SNORD116-1	OMIM:176270
HP:0007328	Impaired pain sensation	8924	HERC2	OMIM:176270
HP:0007328	Impaired pain sensation	145624	PWAR1	OMIM:176270
HP:0007328	Impaired pain sensation	23742	NPAP1	OMIM:176270
HP:0007328	Impaired pain sensation	338433	SNORD115-1	OMIM:176270
HP:0007328	Impaired pain sensation	7343	UBTF	ORPHA:500180
HP:0007328	Impaired pain sensation	3190	HNRNPK	ORPHA:453504
HP:0007328	Impaired pain sensation	3190	HNRNPK	ORPHA:352665
HP:0007328	Impaired pain sensation	9839	ZEB2	ORPHA:261537
HP:0007328	Impaired pain sensation	9839	ZEB2	ORPHA:261552
HP:0007328	Impaired pain sensation	5631	PRPS1	ORPHA:99014
HP:0007328	Impaired pain sensation	6792	CDKL5	ORPHA:3095
HP:0007328	Impaired pain sensation	6792	CDKL5	ORPHA:505652
HP:0007328	Impaired pain sensation	22854	NTNG1	ORPHA:3095
HP:0007328	Impaired pain sensation	9568	GABBR2	ORPHA:3095
HP:0007328	Impaired pain sensation	8243	SMC1A	ORPHA:3095
HP:0007328	Impaired pain sensation	8567	MADD	OMIM:619004
HP:0007328	Impaired pain sensation	8567	MADD	OMIM:619005
HP:0007328	Impaired pain sensation	5375	PMP2	OMIM:618279
HP:0007328	Impaired pain sensation	8566	PDXK	OMIM:618511
HP:0007328	Impaired pain sensation	283489	CHAMP1	OMIM:616579
HP:0007328	Impaired pain sensation	6652	SORD	OMIM:618912
HP:0007328	Impaired pain sensation	3035	HARS1	ORPHA:488333
HP:0007328	Impaired pain sensation	2314	FLII	ORPHA:819
HP:0007328	Impaired pain sensation	23096	IQSEC2	ORPHA:819
HP:0007328	Impaired pain sensation	10743	RAI1	ORPHA:819
HP:0007328	Impaired pain sensation	10743	RAI1	OMIM:182290
HP:0007328	Impaired pain sensation	3481	IGF2	ORPHA:2128
HP:0007328	Impaired pain sensation	10984	KCNQ1OT1	ORPHA:2128
HP:0007328	Impaired pain sensation	283120	H19	ORPHA:2128
HP:0007328	Impaired pain sensation	54332	GDAP1	OMIM:607706
HP:0007328	Impaired pain sensation	54332	GDAP1	ORPHA:101097
HP:0007328	Impaired pain sensation	54332	GDAP1	ORPHA:99948
HP:0007328	Impaired pain sensation	8888	MCM3AP	OMIM:618124
HP:0007328	Impaired pain sensation	182	JAG1	OMIM:619574
HP:0007328	Impaired pain sensation	3977	LIFR	ORPHA:3206
HP:0007328	Impaired pain sensation	3977	LIFR	OMIM:601559
HP:0007328	Impaired pain sensation	2200	FBN1	ORPHA:2833
HP:0007328	Impaired pain sensation	3098	HK1	ORPHA:99953
HP:0007328	Impaired pain sensation	59345	GNB4	OMIM:615185
HP:0007328	Impaired pain sensation	79628	SH3TC2	ORPHA:99949
HP:0007328	Impaired pain sensation	57410	SCYL1	OMIM:616719
HP:0007328	Impaired pain sensation	9927	MFN2	ORPHA:99947
HP:0007328	Impaired pain sensation	3315	HSPB1	ORPHA:99940
HP:0007328	Impaired pain sensation	6310	ATXN1	OMIM:164400
HP:0007328	Impaired pain sensation	5376	PMP22	ORPHA:3115
HP:0007328	Impaired pain sensation	4359	MPZ	ORPHA:3115
HP:0002714	Downturned corners of mouth	8243	SMC1A	OMIM:300590
HP:0002714	Downturned corners of mouth	8243	SMC1A	OMIM:301044
HP:0002714	Downturned corners of mouth	8243	SMC1A	ORPHA:199
HP:0002714	Downturned corners of mouth	6309	SC5D	ORPHA:46059
HP:0002714	Downturned corners of mouth	8367	H4C5	OMIM:619950
HP:0002714	Downturned corners of mouth	340533	NEXMIF	OMIM:300912
HP:0002714	Downturned corners of mouth	23241	PACS2	OMIM:618067
HP:0002714	Downturned corners of mouth	775	CACNA1C	OMIM:620029
HP:0002714	Downturned corners of mouth	23126	POGZ	ORPHA:468678
HP:0002714	Downturned corners of mouth	23126	POGZ	OMIM:616364
HP:0002714	Downturned corners of mouth	55209	SETD5	ORPHA:404440
HP:0002714	Downturned corners of mouth	55209	SETD5	OMIM:615761
HP:0002714	Downturned corners of mouth	3190	HNRNPK	ORPHA:453504
HP:0002714	Downturned corners of mouth	3190	HNRNPK	OMIM:616580
HP:0002714	Downturned corners of mouth	3190	HNRNPK	ORPHA:352665
HP:0002714	Downturned corners of mouth	197131	UBR1	OMIM:243800
HP:0002714	Downturned corners of mouth	116931	MED12L	OMIM:618872
HP:0002714	Downturned corners of mouth	374654	KIF7	OMIM:200990
HP:0002714	Downturned corners of mouth	3020	H3-3A	OMIM:619720
HP:0002714	Downturned corners of mouth	55690	PACS1	OMIM:615009
HP:0002714	Downturned corners of mouth	55690	PACS1	ORPHA:329224
HP:0002714	Downturned corners of mouth	55650	PIGV	OMIM:239300
HP:0002714	Downturned corners of mouth	55650	PIGV	ORPHA:247262
HP:0002714	Downturned corners of mouth	1146	CHRNG	OMIM:265000
HP:0002714	Downturned corners of mouth	56992	KIF15	ORPHA:261323
HP:0002714	Downturned corners of mouth	83696	TRAPPC9	OMIM:613192
HP:0002714	Downturned corners of mouth	83696	TRAPPC9	ORPHA:352530
HP:0002714	Downturned corners of mouth	84992	PIGY	ORPHA:247262
HP:0002714	Downturned corners of mouth	84720	PIGO	ORPHA:247262
HP:0002714	Downturned corners of mouth	93210	PGAP3	ORPHA:247262
HP:0002714	Downturned corners of mouth	284098	PIGW	ORPHA:247262
HP:0002714	Downturned corners of mouth	27315	PGAP2	ORPHA:247262
HP:0002714	Downturned corners of mouth	9487	PIGL	ORPHA:247262
HP:0002714	Downturned corners of mouth	55870	ASH1L	OMIM:617796
HP:0002714	Downturned corners of mouth	3899	AFF3	OMIM:619297
HP:0002714	Downturned corners of mouth	1020	CDK5	OMIM:616342
HP:0002714	Downturned corners of mouth	80204	FBXO11	OMIM:618089
HP:0002714	Downturned corners of mouth	7994	KAT6A	ORPHA:457193
HP:0002714	Downturned corners of mouth	7994	KAT6A	OMIM:616268
HP:0002714	Downturned corners of mouth	64359	NXN	ORPHA:1507
HP:0002714	Downturned corners of mouth	4920	ROR2	ORPHA:1507
HP:0002714	Downturned corners of mouth	57531	HACE1	ORPHA:464282
HP:0002714	Downturned corners of mouth	10815	CPLX1	ORPHA:280
HP:0002714	Downturned corners of mouth	10815	CPLX1	OMIM:194190
HP:0002714	Downturned corners of mouth	54872	PIGG	ORPHA:280
HP:0002714	Downturned corners of mouth	7469	NELFA	ORPHA:280
HP:0002714	Downturned corners of mouth	1487	CTBP1	ORPHA:280
HP:0002714	Downturned corners of mouth	1487	CTBP1	OMIM:194190
HP:0002714	Downturned corners of mouth	3954	LETM1	ORPHA:280
HP:0002714	Downturned corners of mouth	3954	LETM1	OMIM:194190
HP:0002714	Downturned corners of mouth	7468	NSD2	ORPHA:280
HP:0002714	Downturned corners of mouth	7468	NSD2	OMIM:194190
HP:0002714	Downturned corners of mouth	22884	WDR37	OMIM:618652
HP:0002714	Downturned corners of mouth	1009	CDH11	ORPHA:1299
HP:0002714	Downturned corners of mouth	2783	GNB2	OMIM:619503
HP:0002714	Downturned corners of mouth	6602	SMARCD1	OMIM:618779
HP:0002714	Downturned corners of mouth	8642	DCHS1	OMIM:601390
HP:0002714	Downturned corners of mouth	53834	FGFRL1	OMIM:194190
HP:0002714	Downturned corners of mouth	4853	NOTCH2	ORPHA:955
HP:0002714	Downturned corners of mouth	253738	EBF3	OMIM:617330
HP:0002714	Downturned corners of mouth	51604	PIGT	OMIM:615398
HP:0002714	Downturned corners of mouth	51604	PIGT	ORPHA:369837
HP:0002714	Downturned corners of mouth	7862	BRPF1	OMIM:617333
HP:0002714	Downturned corners of mouth	1857	DVL3	ORPHA:3107
HP:0002714	Downturned corners of mouth	1857	DVL3	OMIM:616894
HP:0002714	Downturned corners of mouth	7474	WNT5A	ORPHA:3107
HP:0002714	Downturned corners of mouth	7474	WNT5A	OMIM:180700
HP:0002714	Downturned corners of mouth	1855	DVL1	ORPHA:3107
HP:0002714	Downturned corners of mouth	1855	DVL1	OMIM:180700
HP:0002714	Downturned corners of mouth	2535	FZD2	ORPHA:3107
HP:0002714	Downturned corners of mouth	8363	H4C11	OMIM:619759
HP:0002714	Downturned corners of mouth	27125	AFF4	OMIM:616368
HP:0002714	Downturned corners of mouth	27125	AFF4	ORPHA:444077
HP:0002714	Downturned corners of mouth	64327	LMBR1	ORPHA:2378
HP:0002714	Downturned corners of mouth	3211	HOXB1	OMIM:614744
HP:0002714	Downturned corners of mouth	773	CACNA1A	ORPHA:2131
HP:0002714	Downturned corners of mouth	6507	SLC1A3	ORPHA:2131
HP:0002714	Downturned corners of mouth	477	ATP1A2	ORPHA:2131
HP:0002714	Downturned corners of mouth	478	ATP1A3	ORPHA:2131
HP:0002714	Downturned corners of mouth	9091	PIGQ	OMIM:618548
HP:0002714	Downturned corners of mouth	11128	POLR3A	OMIM:264090
HP:0002714	Downturned corners of mouth	11128	POLR3A	ORPHA:3455
HP:0002714	Downturned corners of mouth	8085	KMT2D	OMIM:620186
HP:0002714	Downturned corners of mouth	23137	SMC5	OMIM:620185
HP:0002714	Downturned corners of mouth	51611	DPH5	OMIM:620070
HP:0002714	Downturned corners of mouth	78989	COLEC11	OMIM:265050
HP:0002714	Downturned corners of mouth	78989	COLEC11	ORPHA:293843
HP:0002714	Downturned corners of mouth	26137	ZBTB20	OMIM:259050
HP:0002714	Downturned corners of mouth	7750	ZMYM2	OMIM:619522
HP:0002714	Downturned corners of mouth	27086	FOXP1	ORPHA:391372
HP:0002714	Downturned corners of mouth	4849	CNOT3	OMIM:618672
HP:0002714	Downturned corners of mouth	6942	TCF20	OMIM:618430
HP:0002714	Downturned corners of mouth	23261	CAMTA1	OMIM:614756
HP:0002714	Downturned corners of mouth	84919	PPP1R15B	OMIM:616817
HP:0002714	Downturned corners of mouth	84919	PPP1R15B	ORPHA:391408
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:98754
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177904
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177901
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177907
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:98754
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:177904
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:177901
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:98754
HP:0002714	Downturned corners of mouth	54551	MAGEL2	OMIM:176270
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:177904
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:177901
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:398069
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:98754
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:177904
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:177901
HP:0002714	Downturned corners of mouth	5295	PIK3R1	OMIM:269880
HP:0002714	Downturned corners of mouth	57479	PRR12	OMIM:619539
HP:0002714	Downturned corners of mouth	25836	NIPBL	OMIM:122470
HP:0002714	Downturned corners of mouth	25836	NIPBL	ORPHA:199
HP:0002714	Downturned corners of mouth	79718	TBL1XR1	OMIM:616944
HP:0002714	Downturned corners of mouth	51322	WAC	OMIM:616708
HP:0002714	Downturned corners of mouth	3756	KCNH1	OMIM:611816
HP:0002714	Downturned corners of mouth	3756	KCNH1	OMIM:135500
HP:0002714	Downturned corners of mouth	117581	TWIST2	ORPHA:1807
HP:0002714	Downturned corners of mouth	1917	EEF1A2	OMIM:616393
HP:0002714	Downturned corners of mouth	8621	CDK13	OMIM:617360
HP:0002714	Downturned corners of mouth	26173	INTS1	OMIM:618571
HP:0002714	Downturned corners of mouth	4208	MEF2C	OMIM:613443
HP:0002714	Downturned corners of mouth	7319	UBE2A	ORPHA:163956
HP:0002714	Downturned corners of mouth	7319	UBE2A	OMIM:300860
HP:0002714	Downturned corners of mouth	55906	ZC4H2	OMIM:301041
HP:0002714	Downturned corners of mouth	29926	GMPPA	OMIM:615510
HP:0002714	Downturned corners of mouth	9759	HDAC4	ORPHA:1001
HP:0002714	Downturned corners of mouth	10785	WDR4	OMIM:618347
HP:0002714	Downturned corners of mouth	55628	ZNF407	OMIM:619557
HP:0002714	Downturned corners of mouth	100151683	RNU4ATAC	ORPHA:353298
HP:0002714	Downturned corners of mouth	100151683	RNU4ATAC	OMIM:616651
HP:0002714	Downturned corners of mouth	79813	EHMT1	ORPHA:96147
HP:0002714	Downturned corners of mouth	23028	KDM1A	OMIM:616728
HP:0002714	Downturned corners of mouth	7681	MKRN3	OMIM:176270
HP:0002714	Downturned corners of mouth	3653	IPW	OMIM:176270
HP:0002714	Downturned corners of mouth	791114	PWRN1	OMIM:176270
HP:0002714	Downturned corners of mouth	100033413	SNORD116-1	OMIM:176270
HP:0002714	Downturned corners of mouth	8924	HERC2	OMIM:176270
HP:0002714	Downturned corners of mouth	145624	PWAR1	OMIM:176270
HP:0002714	Downturned corners of mouth	23742	NPAP1	OMIM:176270
HP:0002714	Downturned corners of mouth	338433	SNORD115-1	OMIM:176270
HP:0002714	Downturned corners of mouth	128869	PIGU	OMIM:618590
HP:0002714	Downturned corners of mouth	5575	PRKAR1B	OMIM:619680
HP:0002714	Downturned corners of mouth	55869	HDAC8	OMIM:300882
HP:0002714	Downturned corners of mouth	55869	HDAC8	ORPHA:199
HP:0002714	Downturned corners of mouth	57465	TBC1D24	OMIM:220500
HP:0002714	Downturned corners of mouth	57465	TBC1D24	ORPHA:79500
HP:0002714	Downturned corners of mouth	10847	SRCAP	OMIM:136140
HP:0002714	Downturned corners of mouth	388015	RTL1	ORPHA:254525
HP:0002714	Downturned corners of mouth	8788	DLK1	ORPHA:254525
HP:0002714	Downturned corners of mouth	55384	MEG3	ORPHA:254525
HP:0002714	Downturned corners of mouth	6651	SON	OMIM:617140
HP:0002714	Downturned corners of mouth	6651	SON	ORPHA:500150
HP:0002714	Downturned corners of mouth	23030	KDM4B	OMIM:619320
HP:0002714	Downturned corners of mouth	8882	ZPR1	OMIM:619321
HP:0002714	Downturned corners of mouth	6492	SIM1	ORPHA:398079
HP:0002714	Downturned corners of mouth	998	CDC42	OMIM:616737
HP:0002714	Downturned corners of mouth	998	CDC42	ORPHA:487796
HP:0002714	Downturned corners of mouth	3767	KCNJ11	ORPHA:79134
HP:0002714	Downturned corners of mouth	3767	KCNJ11	ORPHA:99885
HP:0002714	Downturned corners of mouth	3767	KCNJ11	OMIM:618856
HP:0002714	Downturned corners of mouth	79731	NARS2	ORPHA:79134
HP:0002714	Downturned corners of mouth	6833	ABCC8	ORPHA:79134
HP:0002714	Downturned corners of mouth	6833	ABCC8	ORPHA:99885
HP:0002714	Downturned corners of mouth	6774	STAT3	ORPHA:99885
HP:0002714	Downturned corners of mouth	2645	GCK	ORPHA:99885
HP:0002714	Downturned corners of mouth	3651	PDX1	ORPHA:99885
HP:0002714	Downturned corners of mouth	3630	INS	ORPHA:99885
HP:0002714	Downturned corners of mouth	2710	GK	OMIM:307030
HP:0002714	Downturned corners of mouth	9126	SMC3	OMIM:610759
HP:0002714	Downturned corners of mouth	9126	SMC3	ORPHA:199
HP:0002714	Downturned corners of mouth	90161	HS6ST2	OMIM:301025
HP:0002714	Downturned corners of mouth	2239	GPC4	OMIM:301026
HP:0002714	Downturned corners of mouth	55777	MBD5	OMIM:156200
HP:0002714	Downturned corners of mouth	51132	RLIM	OMIM:300978
HP:0002714	Downturned corners of mouth	3481	IGF2	OMIM:180860
HP:0002714	Downturned corners of mouth	23389	MED13L	ORPHA:369891
HP:0002714	Downturned corners of mouth	7703	PCGF2	OMIM:618371
HP:0002714	Downturned corners of mouth	5422	POLA1	OMIM:301030
HP:0002714	Downturned corners of mouth	10943	MSL3	OMIM:301032
HP:0002714	Downturned corners of mouth	8091	HMGA2	ORPHA:94063
HP:0002714	Downturned corners of mouth	23592	LEMD3	ORPHA:94063
HP:0002714	Downturned corners of mouth	5277	PIGA	OMIM:300868
HP:0002714	Downturned corners of mouth	8985	PLOD3	OMIM:612394
HP:0002714	Downturned corners of mouth	25	ABL1	OMIM:617602
HP:0002714	Downturned corners of mouth	79633	FAT4	OMIM:615546
HP:0002714	Downturned corners of mouth	23476	BRD4	ORPHA:199
HP:0002714	Downturned corners of mouth	5885	RAD21	ORPHA:199
HP:0002714	Downturned corners of mouth	9851	KIAA0753	OMIM:619476
HP:0002714	Downturned corners of mouth	57003	CCDC47	OMIM:618268
HP:0002714	Downturned corners of mouth	134218	DNAJC21	OMIM:617052
HP:0002714	Downturned corners of mouth	5977	DPF2	OMIM:618027
HP:0002714	Downturned corners of mouth	22931	RAB18	OMIM:614222
HP:0002714	Downturned corners of mouth	9894	TELO2	ORPHA:488642
HP:0002714	Downturned corners of mouth	79005	SCNM1	OMIM:620107
HP:0002714	Downturned corners of mouth	246329	STAC3	ORPHA:168572
HP:0002714	Downturned corners of mouth	246329	STAC3	OMIM:255995
HP:0002714	Downturned corners of mouth	9935	MAFB	ORPHA:2774
HP:0002714	Downturned corners of mouth	526	ATP6V1B2	ORPHA:79500
HP:0002714	Downturned corners of mouth	2132	EXT2	ORPHA:52022
HP:0002714	Downturned corners of mouth	60529	ALX4	ORPHA:52022
HP:0002714	Downturned corners of mouth	51317	PHF21A	ORPHA:52022
HP:0002714	Downturned corners of mouth	2887	GRB10	ORPHA:96182
HP:0002714	Downturned corners of mouth	55617	TASP1	OMIM:618950
HP:0002714	Downturned corners of mouth	6472	SHMT2	OMIM:619121
HP:0002714	Downturned corners of mouth	57688	ZSWIM6	OMIM:617865
HP:0002714	Downturned corners of mouth	93587	TRMT10A	ORPHA:391408
HP:0002714	Downturned corners of mouth	84628	NTNG2	OMIM:618718
HP:0002714	Downturned corners of mouth	9320	TRIP12	OMIM:617752
HP:0002714	Downturned corners of mouth	1968	EIF2S3	ORPHA:85282
HP:0002714	Downturned corners of mouth	10584	COLEC10	ORPHA:293843
HP:0002714	Downturned corners of mouth	5648	MASP1	ORPHA:293843
HP:0002714	Downturned corners of mouth	3778	KCNMA1	OMIM:618729
HP:0002714	Downturned corners of mouth	57647	DHX37	OMIM:618731
HP:0002714	Downturned corners of mouth	101929726	MYMX	OMIM:619941
HP:0002714	Downturned corners of mouth	4858	NOVA2	OMIM:618859
HP:0002714	Downturned corners of mouth	84148	KAT8	OMIM:618974
HP:0002714	Downturned corners of mouth	1460	CSNK2B	OMIM:618732
HP:0002714	Downturned corners of mouth	27445	PCLO	OMIM:608027
HP:0002716	Lymphadenopathy	64170	CARD9	OMIM:212050
HP:0002716	Lymphadenopathy	171023	ASXL1	ORPHA:98850
HP:0002716	Lymphadenopathy	171023	ASXL1	ORPHA:98849
HP:0002716	Lymphadenopathy	867	CBL	ORPHA:98850
HP:0002716	Lymphadenopathy	861	RUNX1	ORPHA:98850
HP:0002716	Lymphadenopathy	6427	SRSF2	ORPHA:98850
HP:0002716	Lymphadenopathy	6427	SRSF2	ORPHA:98849
HP:0002716	Lymphadenopathy	90268	OTULIN	OMIM:617099
HP:0002716	Lymphadenopathy	3071	NCKAP1L	OMIM:618982
HP:0002716	Lymphadenopathy	144811	LACC1	ORPHA:85414
HP:0002716	Lymphadenopathy	4282	MIF	ORPHA:85414
HP:0002716	Lymphadenopathy	3569	IL6	ORPHA:85414
HP:0002716	Lymphadenopathy	114548	NLRP3	OMIM:617772
HP:0002716	Lymphadenopathy	114548	NLRP3	OMIM:607115
HP:0002716	Lymphadenopathy	114548	NLRP3	ORPHA:1451
HP:0002716	Lymphadenopathy	4598	MVK	OMIM:260920
HP:0002716	Lymphadenopathy	4598	MVK	OMIM:610377
HP:0002716	Lymphadenopathy	4598	MVK	ORPHA:343
HP:0002716	Lymphadenopathy	3815	KIT	ORPHA:98849
HP:0002716	Lymphadenopathy	3815	KIT	ORPHA:79455
HP:0002716	Lymphadenopathy	987	LRBA	OMIM:614700
HP:0002716	Lymphadenopathy	811	CALR	ORPHA:824
HP:0002716	Lymphadenopathy	4352	MPL	ORPHA:824
HP:0002716	Lymphadenopathy	3717	JAK2	ORPHA:824
HP:0002716	Lymphadenopathy	7518	XRCC4	ORPHA:99812
HP:0002716	Lymphadenopathy	3981	LIG4	ORPHA:99812
HP:0002716	Lymphadenopathy	3981	LIG4	ORPHA:39041
HP:0002716	Lymphadenopathy	7174	TPP2	ORPHA:444463
HP:0002716	Lymphadenopathy	7174	TPP2	OMIM:619220
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:85408
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:117
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:93552
HP:0002716	Lymphadenopathy	3560	IL2RB	ORPHA:85408
HP:0002716	Lymphadenopathy	3560	IL2RB	OMIM:618495
HP:0002716	Lymphadenopathy	79722	ANKRD55	ORPHA:85408
HP:0002716	Lymphadenopathy	919	CD247	ORPHA:85408
HP:0002716	Lymphadenopathy	3559	IL2RA	ORPHA:85408
HP:0002716	Lymphadenopathy	3559	IL2RA	OMIM:606367
HP:0002716	Lymphadenopathy	5771	PTPN2	ORPHA:85408
HP:0002716	Lymphadenopathy	939	CD27	OMIM:615122
HP:0002716	Lymphadenopathy	23149	FCHO1	OMIM:619164
HP:0002716	Lymphadenopathy	841	CASP8	OMIM:607271
HP:0002716	Lymphadenopathy	54	ACP5	OMIM:607944
HP:0002716	Lymphadenopathy	6772	STAT1	OMIM:614162
HP:0002716	Lymphadenopathy	1493	CTLA4	OMIM:616100
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:2584
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:3162
HP:0002716	Lymphadenopathy	6786	STIM1	OMIM:612783
HP:0002716	Lymphadenopathy	1130	LYST	ORPHA:167
HP:0002716	Lymphadenopathy	1130	LYST	OMIM:214500
HP:0002716	Lymphadenopathy	56984	PSMG2	OMIM:619183
HP:0002716	Lymphadenopathy	7374	UNG	OMIM:608106
HP:0002716	Lymphadenopathy	28755	TRAC	OMIM:615387
HP:0002716	Lymphadenopathy	595	CCND1	ORPHA:52416
HP:0002716	Lymphadenopathy	595	CCND1	ORPHA:29073
HP:0002716	Lymphadenopathy	472	ATM	ORPHA:52416
HP:0002716	Lymphadenopathy	3572	IL6ST	OMIM:619750
HP:0002716	Lymphadenopathy	9508	ADAMTS3	ORPHA:2136
HP:0002716	Lymphadenopathy	147372	CCBE1	ORPHA:2136
HP:0002716	Lymphadenopathy	79633	FAT4	ORPHA:2136
HP:0002716	Lymphadenopathy	9636	ISG15	OMIM:616126
HP:0002716	Lymphadenopathy	6049	RNF6	ORPHA:99977
HP:0002716	Lymphadenopathy	7048	TGFBR2	ORPHA:99977
HP:0002716	Lymphadenopathy	51741	WWOX	ORPHA:99977
HP:0002716	Lymphadenopathy	9940	DLEC1	ORPHA:99977
HP:0002716	Lymphadenopathy	6609	SMPD1	OMIM:257200
HP:0002716	Lymphadenopathy	2624	GATA2	ORPHA:3226
HP:0002716	Lymphadenopathy	64421	DCLRE1C	OMIM:603554
HP:0002716	Lymphadenopathy	64421	DCLRE1C	ORPHA:39041
HP:0002716	Lymphadenopathy	5896	RAG1	OMIM:603554
HP:0002716	Lymphadenopathy	5896	RAG1	ORPHA:39041
HP:0002716	Lymphadenopathy	5897	RAG2	OMIM:603554
HP:0002716	Lymphadenopathy	5897	RAG2	ORPHA:39041
HP:0002716	Lymphadenopathy	4210	MEFV	ORPHA:342
HP:0002716	Lymphadenopathy	4210	MEFV	ORPHA:117
HP:0002716	Lymphadenopathy	5551	PRF1	OMIM:603553
HP:0002716	Lymphadenopathy	5551	PRF1	ORPHA:540
HP:0002716	Lymphadenopathy	3575	IL7R	ORPHA:169154
HP:0002716	Lymphadenopathy	3575	IL7R	ORPHA:39041
HP:0002716	Lymphadenopathy	3575	IL7R	OMIM:608971
HP:0002716	Lymphadenopathy	8676	STX11	OMIM:603552
HP:0002716	Lymphadenopathy	8676	STX11	ORPHA:540
HP:0002716	Lymphadenopathy	57169	ZNFX1	OMIM:619644
HP:0002716	Lymphadenopathy	8314	BAP1	ORPHA:50251
HP:0002716	Lymphadenopathy	5692	PSMB4	OMIM:617591
HP:0002716	Lymphadenopathy	5698	PSMB9	OMIM:617591
HP:0002716	Lymphadenopathy	8565	YARS1	OMIM:619418
HP:0002716	Lymphadenopathy	50943	FOXP3	ORPHA:37042
HP:0002716	Lymphadenopathy	50943	FOXP3	OMIM:304790
HP:0002716	Lymphadenopathy	64127	NOD2	ORPHA:90340
HP:0002716	Lymphadenopathy	51311	TLR8	OMIM:301078
HP:0002716	Lymphadenopathy	4615	MYD88	ORPHA:33226
HP:0002716	Lymphadenopathy	3394	IRF8	OMIM:614893
HP:0002716	Lymphadenopathy	3394	IRF8	ORPHA:319600
HP:0002716	Lymphadenopathy	7535	ZAP70	ORPHA:911
HP:0002716	Lymphadenopathy	940	CD28	ORPHA:2584
HP:0002716	Lymphadenopathy	940	CD28	ORPHA:3162
HP:0002716	Lymphadenopathy	7133	TNFRSF1B	ORPHA:2584
HP:0002716	Lymphadenopathy	7133	TNFRSF1B	ORPHA:3162
HP:0002716	Lymphadenopathy	149233	IL23R	ORPHA:117
HP:0002716	Lymphadenopathy	3586	IL10	ORPHA:117
HP:0002716	Lymphadenopathy	1230	CCR1	ORPHA:117
HP:0002716	Lymphadenopathy	3592	IL12A	ORPHA:117
HP:0002716	Lymphadenopathy	101928376	IL12A-AS1	ORPHA:117
HP:0002716	Lymphadenopathy	7099	TLR4	ORPHA:117
HP:0002716	Lymphadenopathy	3459	IFNGR1	ORPHA:117
HP:0002716	Lymphadenopathy	3459	IFNGR1	OMIM:209950
HP:0002716	Lymphadenopathy	720	C4A	ORPHA:117
HP:0002716	Lymphadenopathy	337867	UBAC2	ORPHA:117
HP:0002716	Lymphadenopathy	51752	ERAP1	ORPHA:117
HP:0002716	Lymphadenopathy	8302	KLRC4	ORPHA:117
HP:0002716	Lymphadenopathy	5293	PIK3CD	OMIM:615513
HP:0002716	Lymphadenopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0002716	Lymphadenopathy	100151683	RNU4ATAC	OMIM:616651
HP:0002716	Lymphadenopathy	6696	SPP1	ORPHA:93552
HP:0002716	Lymphadenopathy	3654	IRAK1	ORPHA:93552
HP:0002716	Lymphadenopathy	1776	DNASE1L3	ORPHA:36412
HP:0002716	Lymphadenopathy	4173	MCM4	OMIM:609981
HP:0002716	Lymphadenopathy	10312	TCIRG1	ORPHA:667
HP:0002716	Lymphadenopathy	1186	CLCN7	ORPHA:667
HP:0002716	Lymphadenopathy	29887	SNX10	ORPHA:667
HP:0002716	Lymphadenopathy	8600	TNFSF11	ORPHA:667
HP:0002716	Lymphadenopathy	201294	UNC13D	ORPHA:540
HP:0002716	Lymphadenopathy	6813	STXBP2	ORPHA:540
HP:0002716	Lymphadenopathy	6813	STXBP2	OMIM:613101
HP:0002716	Lymphadenopathy	57379	AICDA	OMIM:605258
HP:0002716	Lymphadenopathy	9948	WDR1	OMIM:150550
HP:0002716	Lymphadenopathy	7248	TSC1	ORPHA:538
HP:0002716	Lymphadenopathy	7249	TSC2	ORPHA:538
HP:0002716	Lymphadenopathy	9837	GINS1	OMIM:617827
HP:0002716	Lymphadenopathy	5978	REST	ORPHA:654
HP:0002716	Lymphadenopathy	129563	DIS3L2	ORPHA:654
HP:0002716	Lymphadenopathy	675	BRCA2	ORPHA:654
HP:0002716	Lymphadenopathy	675	BRCA2	ORPHA:1333
HP:0002716	Lymphadenopathy	9319	TRIP13	ORPHA:654
HP:0002716	Lymphadenopathy	10155	TRIM28	ORPHA:654
HP:0002716	Lymphadenopathy	11281	POU6F2	ORPHA:654
HP:0002716	Lymphadenopathy	2719	GPC3	ORPHA:654
HP:0002716	Lymphadenopathy	283120	H19	ORPHA:654
HP:0002716	Lymphadenopathy	331	XIAP	OMIM:308240
HP:0002716	Lymphadenopathy	4068	SH2D1A	OMIM:308240
HP:0002716	Lymphadenopathy	427	ASAH1	ORPHA:333
HP:0002716	Lymphadenopathy	10616	RBCK1	OMIM:615895
HP:0002716	Lymphadenopathy	672	BRCA1	ORPHA:1333
HP:0002716	Lymphadenopathy	285282	RABL3	ORPHA:1333
HP:0002716	Lymphadenopathy	7157	TP53	ORPHA:1333
HP:0002716	Lymphadenopathy	1029	CDKN2A	ORPHA:1333
HP:0002716	Lymphadenopathy	79728	PALB2	ORPHA:1333
HP:0002716	Lymphadenopathy	4089	SMAD4	ORPHA:1333
HP:0002716	Lymphadenopathy	23022	PALLD	ORPHA:1333
HP:0002716	Lymphadenopathy	4790	NFKB1	ORPHA:1572
HP:0002716	Lymphadenopathy	4791	NFKB2	ORPHA:1572
HP:0002716	Lymphadenopathy	8742	TNFSF12	ORPHA:1572
HP:0002716	Lymphadenopathy	931	MS4A1	ORPHA:1572
HP:0002716	Lymphadenopathy	975	CD81	ORPHA:1572
HP:0002716	Lymphadenopathy	359948	IRF2BP2	ORPHA:1572
HP:0002716	Lymphadenopathy	359948	IRF2BP2	ORPHA:520
HP:0002716	Lymphadenopathy	5873	RAB27A	ORPHA:79477
HP:0002716	Lymphadenopathy	970	CD70	OMIM:618261
HP:0002716	Lymphadenopathy	3702	ITK	OMIM:613011
HP:0002716	Lymphadenopathy	6023	RMRP	ORPHA:39041
HP:0002716	Lymphadenopathy	55636	CHD7	ORPHA:39041
HP:0002716	Lymphadenopathy	100	ADA	ORPHA:39041
HP:0002716	Lymphadenopathy	3561	IL2RG	ORPHA:39041
HP:0002716	Lymphadenopathy	51816	ADA2	OMIM:615688
HP:0002716	Lymphadenopathy	3931	LCAT	ORPHA:79292
HP:0002716	Lymphadenopathy	91662	NLRP12	OMIM:611762
HP:0002716	Lymphadenopathy	51371	POMP	OMIM:618048
HP:0002716	Lymphadenopathy	8651	SOCS1	OMIM:619375
HP:0002716	Lymphadenopathy	27040	LAT	OMIM:617514
HP:0002716	Lymphadenopathy	6774	STAT3	ORPHA:520
HP:0002716	Lymphadenopathy	5371	PML	ORPHA:520
HP:0002716	Lymphadenopathy	5914	RARA	ORPHA:520
HP:0002716	Lymphadenopathy	81608	FIP1L1	ORPHA:520
HP:0002716	Lymphadenopathy	4869	NPM1	ORPHA:520
HP:0002716	Lymphadenopathy	5573	PRKAR1A	ORPHA:520
HP:0002716	Lymphadenopathy	54880	BCOR	ORPHA:520
HP:0002716	Lymphadenopathy	64859	NABP1	ORPHA:520
HP:0002716	Lymphadenopathy	6777	STAT5B	ORPHA:520
HP:0002716	Lymphadenopathy	4926	NUMA1	ORPHA:520
HP:0002716	Lymphadenopathy	7704	ZBTB16	ORPHA:520
HP:0002716	Lymphadenopathy	79718	TBL1XR1	ORPHA:520
HP:0002716	Lymphadenopathy	8737	RIPK1	OMIM:618852
HP:0002716	Lymphadenopathy	9051	PSTPIP1	ORPHA:69126
HP:0002716	Lymphadenopathy	5696	PSMB8	OMIM:256040
HP:0002716	Lymphadenopathy	6850	SYK	OMIM:619381
HP:0002716	Lymphadenopathy	3845	KRAS	OMIM:614470
HP:0002716	Lymphadenopathy	4893	NRAS	OMIM:614470
HP:0002716	Lymphadenopathy	23495	TNFRSF13B	OMIM:240500
HP:0002716	Lymphadenopathy	115650	TNFRSF13C	OMIM:240500
HP:0002716	Lymphadenopathy	1380	CR2	OMIM:240500
HP:0002716	Lymphadenopathy	29851	ICOS	OMIM:240500
HP:0002716	Lymphadenopathy	930	CD19	OMIM:240500
HP:0002716	Lymphadenopathy	54790	TET2	OMIM:619126
HP:0002716	Lymphadenopathy	340061	STING1	OMIM:615934
HP:0002716	Lymphadenopathy	56259	CTNNBL1	OMIM:619846
HP:0002716	Lymphadenopathy	1616	DAXX	ORPHA:100075
HP:0002716	Lymphadenopathy	546	ATRX	ORPHA:100075
HP:0002716	Lymphadenopathy	355	FAS	ORPHA:3261
HP:0002716	Lymphadenopathy	355	FAS	OMIM:601859
HP:0002716	Lymphadenopathy	356	FASLG	ORPHA:3261
HP:0002716	Lymphadenopathy	356	FASLG	OMIM:601859
HP:0002716	Lymphadenopathy	843	CASP10	ORPHA:3261
HP:0002716	Lymphadenopathy	843	CASP10	OMIM:603909
HP:0002716	Lymphadenopathy	6392	SDHD	ORPHA:100093
HP:0002716	Lymphadenopathy	2304	FOXE1	ORPHA:319487
HP:0002716	Lymphadenopathy	3026	HABP2	ORPHA:319487
HP:0002716	Lymphadenopathy	9562	MINPP1	ORPHA:319487
HP:0002716	Lymphadenopathy	19	ABCA1	ORPHA:31150
HP:0002716	Lymphadenopathy	64135	IFIH1	OMIM:615846
HP:0002716	Lymphadenopathy	4773	NFATC2	OMIM:620232
HP:0002716	Lymphadenopathy	165918	RNF168	ORPHA:420741
HP:0002716	Lymphadenopathy	55315	SLC29A3	OMIM:602782
HP:0002716	Lymphadenopathy	3162	HMOX1	OMIM:614034
HP:0002716	Lymphadenopathy	50619	DEF6	OMIM:619573
HP:0002716	Lymphadenopathy	7132	TNFRSF1A	OMIM:142680
HP:0002716	Lymphadenopathy	5880	RAC2	OMIM:618987
HP:0002716	Lymphadenopathy	10095	ARPC1B	OMIM:617718
HP:0002716	Lymphadenopathy	1991	ELANE	ORPHA:2686
HP:0002716	Lymphadenopathy	6452	SH3BP2	OMIM:118400
HP:0002716	Lymphadenopathy	26191	PTPN22	ORPHA:397
HP:0002716	Lymphadenopathy	3106	HLA-B	ORPHA:397
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:397
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	OMIM:181000
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:545
HP:0002716	Lymphadenopathy	8974	P4HA2	ORPHA:397
HP:0002716	Lymphadenopathy	3115	HLA-DPB1	ORPHA:133
HP:0002716	Lymphadenopathy	348	APOE	ORPHA:158029
HP:0002716	Lymphadenopathy	330	BIRC3	ORPHA:52417
HP:0002716	Lymphadenopathy	10892	MALT1	ORPHA:52417
HP:0002716	Lymphadenopathy	27086	FOXP1	ORPHA:52417
HP:0002716	Lymphadenopathy	3492	IGH	ORPHA:52417
HP:0002716	Lymphadenopathy	3492	IGH	ORPHA:545
HP:0002716	Lymphadenopathy	8915	BCL10	ORPHA:52417
HP:0002716	Lymphadenopathy	84061	MAGT1	OMIM:300853
HP:0002716	Lymphadenopathy	7015	TERT	OMIM:614742
HP:0002716	Lymphadenopathy	56244	BTNL2	OMIM:612387
HP:0002716	Lymphadenopathy	5580	PRKCD	OMIM:615559
HP:0002716	Lymphadenopathy	596	BCL2	ORPHA:545
HP:0002716	Lymphadenopathy	604	BCL6	ORPHA:545
HP:0002716	Lymphadenopathy	440275	EIF2AK4	ORPHA:199241
HP:0002716	Lymphadenopathy	440275	EIF2AK4	OMIM:234810
HP:0002716	Lymphadenopathy	2130	EWSR1	ORPHA:83469
HP:0002716	Lymphadenopathy	7490	WT1	ORPHA:83469
HP:0002716	Lymphadenopathy	10125	RASGRP1	OMIM:618534
HP:0002716	Lymphadenopathy	5294	PIK3CG	OMIM:619802
HP:0002716	Lymphadenopathy	3662	IRF4	ORPHA:3452
HP:0002716	Lymphadenopathy	10551	AGR2	OMIM:620233
HP:0002716	Lymphadenopathy	1536	CYBB	ORPHA:379
HP:0002716	Lymphadenopathy	4688	NCF2	ORPHA:379
HP:0002716	Lymphadenopathy	1535	CYBA	ORPHA:379
HP:0002716	Lymphadenopathy	4689	NCF4	ORPHA:379
HP:0002716	Lymphadenopathy	653361	NCF1	ORPHA:379
HP:0002716	Lymphadenopathy	79415	CYBC1	ORPHA:379
HP:0002717	Adrenal overactivity	6337	SCNN1A	OMIM:264350
HP:0002717	Adrenal overactivity	7809	BSND	ORPHA:89938
HP:0002717	Adrenal overactivity	7809	BSND	OMIM:602522
HP:0002717	Adrenal overactivity	1188	CLCNKB	ORPHA:89938
HP:0002717	Adrenal overactivity	1188	CLCNKB	OMIM:613090
HP:0002717	Adrenal overactivity	1188	CLCNKB	OMIM:607364
HP:0002717	Adrenal overactivity	1187	CLCNKA	ORPHA:89938
HP:0002717	Adrenal overactivity	1187	CLCNKA	OMIM:613090
HP:0002717	Adrenal overactivity	3766	KCNJ10	OMIM:612780
HP:0002717	Adrenal overactivity	3766	KCNJ10	ORPHA:199343
HP:0002717	Adrenal overactivity	3762	KCNJ5	OMIM:613677
HP:0002717	Adrenal overactivity	3762	KCNJ5	ORPHA:37553
HP:0002717	Adrenal overactivity	3643	INSR	ORPHA:508
HP:0002717	Adrenal overactivity	6340	SCNN1G	OMIM:620126
HP:0002717	Adrenal overactivity	6338	SCNN1B	OMIM:620125
HP:0002717	Adrenal overactivity	84133	ZNRF3	ORPHA:1501
HP:0002717	Adrenal overactivity	7157	TP53	ORPHA:1501
HP:0002717	Adrenal overactivity	5573	PRKAR1A	ORPHA:1501
HP:0002717	Adrenal overactivity	1499	CTNNB1	ORPHA:1501
HP:0002717	Adrenal overactivity	1029	CDKN2A	ORPHA:1501
HP:0002717	Adrenal overactivity	7015	TERT	ORPHA:1501
HP:0002717	Adrenal overactivity	1181	CLCN2	OMIM:605635
HP:0002717	Adrenal overactivity	6557	SLC12A1	OMIM:601678
HP:0002717	Adrenal overactivity	776	CACNA1D	ORPHA:369929
HP:0002717	Adrenal overactivity	3758	KCNJ1	OMIM:241200
HP:0002717	Adrenal overactivity	4306	NR3C2	OMIM:177735
HP:0002717	Adrenal overactivity	79798	ARMC5	ORPHA:189427
HP:0002717	Adrenal overactivity	2778	GNAS	ORPHA:189427
HP:0002717	Adrenal overactivity	8912	CACNA1H	OMIM:617027
HP:0002717	Adrenal overactivity	1583	CYP11A1	OMIM:613743
HP:0002717	Adrenal overactivity	1811	SLC26A3	OMIM:214700
HP:0002717	Adrenal overactivity	3773	KCNJ16	OMIM:619406
HP:0002717	Adrenal overactivity	1584	CYP11B1	OMIM:103900
HP:0002717	Adrenal overactivity	4952	OCRL	ORPHA:534
HP:0002717	Adrenal overactivity	3759	KCNJ2	ORPHA:37553
HP:0002717	Adrenal overactivity	84733	CBX2	OMIM:613080
HP:0002717	Adrenal overactivity	4221	MEN1	ORPHA:652
HP:0002717	Adrenal overactivity	4221	MEN1	OMIM:131100
HP:0002717	Adrenal overactivity	1027	CDKN1B	ORPHA:652
HP:0002717	Adrenal overactivity	1027	CDKN1B	ORPHA:276152
HP:0002717	Adrenal overactivity	1026	CDKN1A	ORPHA:652
HP:0002717	Adrenal overactivity	1030	CDKN2B	ORPHA:652
HP:0002717	Adrenal overactivity	1031	CDKN2C	ORPHA:652
HP:0002717	Adrenal overactivity	84196	USP48	ORPHA:96253
HP:0002717	Adrenal overactivity	9101	USP8	ORPHA:96253
HP:0002717	Adrenal overactivity	64072	CDH23	ORPHA:96253
HP:0002717	Adrenal overactivity	2908	NR3C1	ORPHA:96253
HP:0002717	Adrenal overactivity	2908	NR3C1	ORPHA:786
HP:0002717	Adrenal overactivity	2908	NR3C1	OMIM:615962
HP:0002717	Adrenal overactivity	673	BRAF	ORPHA:96253
HP:0002717	Adrenal overactivity	546	ATRX	ORPHA:96253
HP:0002717	Adrenal overactivity	5566	PRKACA	OMIM:615830
HP:0002717	Adrenal overactivity	5566	PRKACA	ORPHA:189439
HP:0002717	Adrenal overactivity	8622	PDE8B	ORPHA:189439
HP:0002717	Adrenal overactivity	8622	PDE8B	OMIM:614190
HP:0002717	Adrenal overactivity	50940	PDE11A	ORPHA:189439
HP:0002717	Adrenal overactivity	50940	PDE11A	OMIM:610475
HP:0002717	Adrenal overactivity	50940	PDE11A	ORPHA:1359
HP:0002717	Adrenal overactivity	3767	KCNJ11	ORPHA:79644
HP:0002717	Adrenal overactivity	5979	RET	OMIM:171400
HP:0002717	Adrenal overactivity	3350	HTR1A	OMIM:614674
HP:0002717	Adrenal overactivity	326	AIRE	ORPHA:3453
HP:0002717	Adrenal overactivity	6559	SLC12A3	ORPHA:358
HP:0002717	Adrenal overactivity	1585	CYP11B2	ORPHA:403
HP:0002717	Adrenal overactivity	5447	POR	OMIM:201750
HP:0002718	Recurrent bacterial infections	3909	LAMA3	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3918	LAMC2	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3914	LAMB3	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3587	IL10RA	OMIM:613148
HP:0002718	Recurrent bacterial infections	7092	TLL1	ORPHA:99103
HP:0002718	Recurrent bacterial infections	57057	TBX20	ORPHA:99103
HP:0002718	Recurrent bacterial infections	4624	MYH6	ORPHA:99103
HP:0002718	Recurrent bacterial infections	1482	NKX2-5	ORPHA:99103
HP:0002718	Recurrent bacterial infections	70	ACTC1	ORPHA:99103
HP:0002718	Recurrent bacterial infections	10370	CITED2	ORPHA:99103
HP:0002718	Recurrent bacterial infections	2626	GATA4	ORPHA:99103
HP:0002718	Recurrent bacterial infections	2627	GATA6	ORPHA:99103
HP:0002718	Recurrent bacterial infections	30011	SH3KBP1	OMIM:300310
HP:0002718	Recurrent bacterial infections	9056	SLC7A7	ORPHA:470
HP:0002718	Recurrent bacterial infections	64421	DCLRE1C	ORPHA:275
HP:0002718	Recurrent bacterial infections	64421	DCLRE1C	OMIM:603554
HP:0002718	Recurrent bacterial infections	7454	WAS	ORPHA:86788
HP:0002718	Recurrent bacterial infections	7454	WAS	OMIM:300299
HP:0002718	Recurrent bacterial infections	54809	SAMD9	OMIM:617053
HP:0002718	Recurrent bacterial infections	6905	TBCE	OMIM:241410
HP:0002718	Recurrent bacterial infections	6905	TBCE	OMIM:244460
HP:0002718	Recurrent bacterial infections	930	CD19	OMIM:613493
HP:0002718	Recurrent bacterial infections	930	CD19	OMIM:240500
HP:0002718	Recurrent bacterial infections	931	MS4A1	OMIM:613495
HP:0002718	Recurrent bacterial infections	8517	IKBKG	OMIM:300636
HP:0002718	Recurrent bacterial infections	8517	IKBKG	OMIM:300291
HP:0002718	Recurrent bacterial infections	115650	TNFRSF13C	OMIM:613494
HP:0002718	Recurrent bacterial infections	115650	TNFRSF13C	OMIM:240500
HP:0002718	Recurrent bacterial infections	4261	CIITA	OMIM:209920
HP:0002718	Recurrent bacterial infections	4261	CIITA	ORPHA:572
HP:0002718	Recurrent bacterial infections	5994	RFXAP	OMIM:209920
HP:0002718	Recurrent bacterial infections	5994	RFXAP	ORPHA:572
HP:0002718	Recurrent bacterial infections	5993	RFX5	OMIM:209920
HP:0002718	Recurrent bacterial infections	5993	RFX5	ORPHA:572
HP:0002718	Recurrent bacterial infections	8625	RFXANK	OMIM:209920
HP:0002718	Recurrent bacterial infections	8625	RFXANK	ORPHA:572
HP:0002718	Recurrent bacterial infections	975	CD81	OMIM:613496
HP:0002718	Recurrent bacterial infections	5295	PIK3R1	OMIM:616005
HP:0002718	Recurrent bacterial infections	4860	PNP	OMIM:613179
HP:0002718	Recurrent bacterial infections	5238	PGM3	ORPHA:443811
HP:0002718	Recurrent bacterial infections	83706	FERMT3	OMIM:612840
HP:0002718	Recurrent bacterial infections	22806	IKZF3	OMIM:619437
HP:0002718	Recurrent bacterial infections	118429	ANTXR2	ORPHA:2176
HP:0002718	Recurrent bacterial infections	718	C3	OMIM:613779
HP:0002718	Recurrent bacterial infections	6789	STK4	OMIM:614868
HP:0002718	Recurrent bacterial infections	1776	DNASE1L3	ORPHA:36412
HP:0002718	Recurrent bacterial infections	959	CD40LG	OMIM:308230
HP:0002718	Recurrent bacterial infections	5293	PIK3CD	ORPHA:221139
HP:0002718	Recurrent bacterial infections	90417	KNSTRN	ORPHA:221139
HP:0002718	Recurrent bacterial infections	2542	SLC37A4	OMIM:232220
HP:0002718	Recurrent bacterial infections	2542	SLC37A4	ORPHA:79259
HP:0002718	Recurrent bacterial infections	5896	RAG1	OMIM:603554
HP:0002718	Recurrent bacterial infections	5896	RAG1	ORPHA:331206
HP:0002718	Recurrent bacterial infections	5897	RAG2	OMIM:603554
HP:0002718	Recurrent bacterial infections	5897	RAG2	ORPHA:331206
HP:0002718	Recurrent bacterial infections	3507	IGHM	OMIM:601495
HP:0002718	Recurrent bacterial infections	3075	CFH	OMIM:609814
HP:0002718	Recurrent bacterial infections	57379	AICDA	OMIM:605258
HP:0002718	Recurrent bacterial infections	974	CD79B	OMIM:612692
HP:0002718	Recurrent bacterial infections	973	CD79A	OMIM:613501
HP:0002718	Recurrent bacterial infections	3543	IGLL1	OMIM:613500
HP:0002718	Recurrent bacterial infections	29760	BLNK	OMIM:613502
HP:0002718	Recurrent bacterial infections	79840	NHEJ1	ORPHA:169079
HP:0002718	Recurrent bacterial infections	134218	DNAJC21	ORPHA:811
HP:0002718	Recurrent bacterial infections	79631	EFL1	ORPHA:811
HP:0002718	Recurrent bacterial infections	51119	SBDS	ORPHA:811
HP:0002718	Recurrent bacterial infections	6729	SRP54	ORPHA:811
HP:0002718	Recurrent bacterial infections	6729	SRP54	ORPHA:486
HP:0002718	Recurrent bacterial infections	29851	ICOS	OMIM:607594
HP:0002718	Recurrent bacterial infections	29851	ICOS	OMIM:240500
HP:0002718	Recurrent bacterial infections	925	CD8A	OMIM:608957
HP:0002718	Recurrent bacterial infections	10559	SLC35A1	OMIM:603585
HP:0002718	Recurrent bacterial infections	57724	EPG5	OMIM:242840
HP:0002718	Recurrent bacterial infections	5873	RAB27A	OMIM:607624
HP:0002718	Recurrent bacterial infections	51360	MBTPS2	ORPHA:2273
HP:0002718	Recurrent bacterial infections	3043	HBB	OMIM:603903
HP:0002718	Recurrent bacterial infections	23495	TNFRSF13B	OMIM:240500
HP:0002718	Recurrent bacterial infections	1380	CR2	OMIM:240500
HP:0002718	Recurrent bacterial infections	51371	POMP	OMIM:618048
HP:0002718	Recurrent bacterial infections	537	ATP6AP1	OMIM:300972
HP:0002718	Recurrent bacterial infections	4125	MAN2B1	OMIM:248500
HP:0002718	Recurrent bacterial infections	7922	SLC39A7	OMIM:619693
HP:0002718	Recurrent bacterial infections	50619	DEF6	OMIM:619573
HP:0002718	Recurrent bacterial infections	6603	SMARCD2	OMIM:617475
HP:0002718	Recurrent bacterial infections	84522	JAGN1	OMIM:616022
HP:0002718	Recurrent bacterial infections	100	ADA	OMIM:102700
HP:0002718	Recurrent bacterial infections	7852	CXCR4	OMIM:193670
HP:0002718	Recurrent bacterial infections	7852	CXCR4	ORPHA:51636
HP:0002718	Recurrent bacterial infections	10616	RBCK1	OMIM:615895
HP:0002718	Recurrent bacterial infections	92579	G6PC3	OMIM:612541
HP:0002718	Recurrent bacterial infections	6786	STIM1	OMIM:612783
HP:0002718	Recurrent bacterial infections	1675	CFD	OMIM:613912
HP:0002718	Recurrent bacterial infections	695	BTK	OMIM:307200
HP:0002718	Recurrent bacterial infections	8546	AP3B1	OMIM:608233
HP:0002718	Recurrent bacterial infections	10312	TCIRG1	ORPHA:486
HP:0002718	Recurrent bacterial infections	1991	ELANE	ORPHA:486
HP:0002718	Recurrent bacterial infections	1991	ELANE	OMIM:202700
HP:0002718	Recurrent bacterial infections	2672	GFI1	ORPHA:486
HP:0002718	Recurrent bacterial infections	81570	CLPB	ORPHA:486
HP:0002718	Recurrent bacterial infections	81704	DOCK8	OMIM:243700
HP:0002718	Recurrent bacterial infections	7374	UNG	OMIM:608106
HP:0002718	Recurrent bacterial infections	958	CD40	OMIM:606843
HP:0002718	Recurrent bacterial infections	1053	CEBPE	OMIM:245480
HP:0002718	Recurrent bacterial infections	10892	MALT1	OMIM:615468
HP:0002718	Recurrent bacterial infections	10320	IKZF1	OMIM:616873
HP:0002718	Recurrent bacterial infections	7535	ZAP70	ORPHA:911
HP:0002718	Recurrent bacterial infections	3559	IL2RA	OMIM:606367
HP:0002718	Recurrent bacterial infections	10456	HAX1	OMIM:610738
HP:0002718	Recurrent bacterial infections	4914	NTRK1	ORPHA:642
HP:0002718	Recurrent bacterial infections	6774	STAT3	OMIM:147060
HP:0002718	Recurrent bacterial infections	8547	FCN3	OMIM:613860
HP:0002718	Recurrent bacterial infections	4688	NCF2	OMIM:233710
HP:0002718	Recurrent bacterial infections	1536	CYBB	OMIM:306400
HP:0002718	Recurrent bacterial infections	653361	NCF1	OMIM:233700
HP:0002718	Recurrent bacterial infections	1535	CYBA	OMIM:233690
HP:0002718	Recurrent bacterial infections	3426	CFI	OMIM:610984
HP:0002718	Recurrent bacterial infections	51135	IRAK4	ORPHA:70592
HP:0002718	Recurrent bacterial infections	3561	IL2RG	ORPHA:276
HP:0002718	Recurrent bacterial infections	6804	STX1A	ORPHA:586
HP:0002718	Recurrent bacterial infections	2947	GSTM3	ORPHA:586
HP:0002718	Recurrent bacterial infections	7040	TGFB1	ORPHA:586
HP:0002718	Recurrent bacterial infections	2729	GCLC	ORPHA:586
HP:0002718	Recurrent bacterial infections	1084	CEACAM3	ORPHA:586
HP:0002718	Recurrent bacterial infections	6556	SLC11A1	ORPHA:586
HP:0002718	Recurrent bacterial infections	51164	DCTN4	ORPHA:586
HP:0002718	Recurrent bacterial infections	3783	KCNN4	ORPHA:586
HP:0002718	Recurrent bacterial infections	4282	MIF	ORPHA:586
HP:0002718	Recurrent bacterial infections	1909	EDNRA	ORPHA:586
HP:0002718	Recurrent bacterial infections	6550	SLC9A3	ORPHA:586
HP:0002718	Recurrent bacterial infections	3162	HMOX1	ORPHA:586
HP:0002718	Recurrent bacterial infections	115019	SLC26A9	ORPHA:586
HP:0002718	Recurrent bacterial infections	3077	HFE	ORPHA:586
HP:0002718	Recurrent bacterial infections	11254	SLC6A14	ORPHA:586
HP:0002718	Recurrent bacterial infections	5265	SERPINA1	ORPHA:586
HP:0002718	Recurrent bacterial infections	1080	CFTR	ORPHA:586
HP:0002718	Recurrent bacterial infections	1080	CFTR	ORPHA:60033
HP:0002718	Recurrent bacterial infections	22802	CLCA4	ORPHA:586
HP:0002718	Recurrent bacterial infections	4680	CEACAM6	ORPHA:586
HP:0002718	Recurrent bacterial infections	6103	RPGR	OMIM:300455
HP:0002718	Recurrent bacterial infections	6340	SCNN1G	ORPHA:60033
HP:0002718	Recurrent bacterial infections	6337	SCNN1A	ORPHA:60033
HP:0002718	Recurrent bacterial infections	6338	SCNN1B	ORPHA:60033
HP:0002718	Recurrent bacterial infections	729	C6	OMIM:612446
HP:0002718	Recurrent bacterial infections	4153	MBL2	OMIM:614372
HP:0002718	Recurrent bacterial infections	629	CFB	OMIM:615561
HP:0002718	Recurrent bacterial infections	4615	MYD88	ORPHA:183713
HP:0002718	Recurrent bacterial infections	7390	UROS	ORPHA:79277
HP:0002718	Recurrent bacterial infections	2623	GATA1	ORPHA:79277
HP:0002718	Recurrent bacterial infections	2050	EPHB4	ORPHA:90186
HP:0002718	Recurrent bacterial infections	6868	ADAM17	ORPHA:294023
HP:0002718	Recurrent bacterial infections	1956	EGFR	ORPHA:294023
HP:0002718	Recurrent bacterial infections	7389	UROD	ORPHA:95159
HP:0002718	Recurrent bacterial infections	3689	ITGB2	OMIM:116920
HP:0002718	Recurrent bacterial infections	2859	GPR35	ORPHA:171
HP:0002718	Recurrent bacterial infections	10507	SEMA4D	ORPHA:171
HP:0002718	Recurrent bacterial infections	4485	MST1	ORPHA:171
HP:0002718	Recurrent bacterial infections	6925	TCF4	ORPHA:171
HP:0002718	Recurrent bacterial infections	730	C7	OMIM:610102
HP:0002718	Recurrent bacterial infections	732	C8B	OMIM:613789
HP:0002718	Recurrent bacterial infections	727	C5	OMIM:609536
HP:0002718	Recurrent bacterial infections	90268	OTULIN	OMIM:619986
HP:0002718	Recurrent bacterial infections	23765	IL17RA	OMIM:613953
HP:0002718	Recurrent bacterial infections	55851	PSENEN	OMIM:613736
HP:0002718	Recurrent bacterial infections	5663	PSEN1	OMIM:613737
HP:0002718	Recurrent bacterial infections	1075	CTSC	ORPHA:678
HP:0002718	Recurrent bacterial infections	25981	DNAH1	ORPHA:244
HP:0002718	Recurrent bacterial infections	115948	ODAD3	ORPHA:244
HP:0002718	Recurrent bacterial infections	54768	HYDIN	ORPHA:244
HP:0002718	Recurrent bacterial infections	352909	DNAAF3	ORPHA:244
HP:0002718	Recurrent bacterial infections	27148	STK36	ORPHA:244
HP:0002718	Recurrent bacterial infections	51314	NME8	ORPHA:244
HP:0002718	Recurrent bacterial infections	92749	DRC1	ORPHA:244
HP:0002718	Recurrent bacterial infections	54970	TTC12	ORPHA:244
HP:0002718	Recurrent bacterial infections	152110	NEK10	ORPHA:244
HP:0002718	Recurrent bacterial infections	8481	OFD1	ORPHA:244
HP:0002718	Recurrent bacterial infections	2302	FOXJ1	ORPHA:244
HP:0002718	Recurrent bacterial infections	221421	RSPH9	ORPHA:244
HP:0002718	Recurrent bacterial infections	85478	CCDC65	ORPHA:244
HP:0002718	Recurrent bacterial infections	55036	CCDC40	ORPHA:244
HP:0002718	Recurrent bacterial infections	51364	ZMYND10	ORPHA:244
HP:0002718	Recurrent bacterial infections	64446	DNAI2	ORPHA:244
HP:0002718	Recurrent bacterial infections	6674	SPAG1	ORPHA:244
HP:0002718	Recurrent bacterial infections	83544	DNAL1	ORPHA:244
HP:0002718	Recurrent bacterial infections	89765	RSPH1	ORPHA:244
HP:0002718	Recurrent bacterial infections	83538	ODAD4	ORPHA:244
HP:0002718	Recurrent bacterial infections	200373	CFAP221	ORPHA:244
HP:0002718	Recurrent bacterial infections	374407	DNAJB13	ORPHA:244
HP:0002718	Recurrent bacterial infections	55172	DNAAF2	ORPHA:244
HP:0002718	Recurrent bacterial infections	161582	DNAAF4	ORPHA:244
HP:0002718	Recurrent bacterial infections	2622	GAS8	ORPHA:244
HP:0002718	Recurrent bacterial infections	23639	DNAAF11	ORPHA:244
HP:0002718	Recurrent bacterial infections	27019	DNAI1	ORPHA:244
HP:0002718	Recurrent bacterial infections	345895	RSPH4A	ORPHA:244
HP:0002718	Recurrent bacterial infections	54919	DNAAF5	ORPHA:244
HP:0002718	Recurrent bacterial infections	388389	CCDC103	ORPHA:244
HP:0002718	Recurrent bacterial infections	93233	ODAD1	ORPHA:244
HP:0002718	Recurrent bacterial infections	55130	ODAD2	ORPHA:244
HP:0002718	Recurrent bacterial infections	1767	DNAH5	ORPHA:244
HP:0002718	Recurrent bacterial infections	83861	RSPH3	ORPHA:244
HP:0002718	Recurrent bacterial infections	345643	MCIDAS	ORPHA:244
HP:0002718	Recurrent bacterial infections	56683	CFAP298	ORPHA:244
HP:0002718	Recurrent bacterial infections	79925	SPEF2	ORPHA:244
HP:0002718	Recurrent bacterial infections	10309	CCNO	ORPHA:244
HP:0002718	Recurrent bacterial infections	115399	LRRC56	ORPHA:244
HP:0002718	Recurrent bacterial infections	139212	DNAAF6	ORPHA:244
HP:0002718	Recurrent bacterial infections	123872	DNAAF1	ORPHA:244
HP:0002718	Recurrent bacterial infections	85016	CFAP300	ORPHA:244
HP:0002718	Recurrent bacterial infections	339829	CCDC39	ORPHA:244
HP:0002718	Recurrent bacterial infections	8701	DNAH11	ORPHA:244
HP:0002718	Recurrent bacterial infections	1770	DNAH9	ORPHA:244
HP:0002718	Recurrent bacterial infections	246176	GAS2L2	ORPHA:244
HP:0002718	Recurrent bacterial infections	3594	IL12RB1	OMIM:614891
HP:0002718	Recurrent bacterial infections	3594	IL12RB1	ORPHA:319552
HP:0002718	Recurrent bacterial infections	9636	ISG15	OMIM:616126
HP:0002718	Recurrent bacterial infections	7297	TYK2	OMIM:611521
HP:0002718	Recurrent bacterial infections	3460	IFNGR2	OMIM:614889
HP:0002718	Recurrent bacterial infections	3459	IFNGR1	OMIM:615978
HP:0002718	Recurrent bacterial infections	2624	GATA2	OMIM:614172
HP:0002718	Recurrent bacterial infections	6772	STAT1	OMIM:614892
HP:0002718	Recurrent bacterial infections	1130	LYST	ORPHA:167
HP:0002718	Recurrent bacterial infections	3514	IGKC	ORPHA:183675
HP:0002718	Recurrent bacterial infections	3501	IGHG2	ORPHA:183675
HP:0002718	Recurrent bacterial infections	10804	GJB6	ORPHA:477
HP:0002718	Recurrent bacterial infections	2706	GJB2	ORPHA:477
HP:0002718	Recurrent bacterial infections	146206	CARMIL2	OMIM:618131
HP:0002718	Recurrent bacterial infections	3937	LCP2	OMIM:619374
HP:0002718	Recurrent bacterial infections	7319	UBE2A	ORPHA:163956
HP:0002719	Recurrent infections	23394	ADNP	ORPHA:404448
HP:0002719	Recurrent infections	23394	ADNP	OMIM:615873
HP:0002719	Recurrent infections	9860	LRIG2	OMIM:615112
HP:0002719	Recurrent infections	9860	LRIG2	ORPHA:2704
HP:0002719	Recurrent infections	1859	DYRK1A	ORPHA:268261
HP:0002719	Recurrent infections	1131	CHRM3	ORPHA:2970
HP:0002719	Recurrent infections	113235	SLC46A1	ORPHA:90045
HP:0002719	Recurrent infections	4125	MAN2B1	ORPHA:309282
HP:0002719	Recurrent infections	11136	SLC7A9	OMIM:220100
HP:0002719	Recurrent infections	6519	SLC3A1	OMIM:220100
HP:0002719	Recurrent infections	3106	HLA-B	ORPHA:29207
HP:0002719	Recurrent infections	1387	CREBBP	ORPHA:353281
HP:0002719	Recurrent infections	1387	CREBBP	ORPHA:353277
HP:0002719	Recurrent infections	9578	CDC42BPB	OMIM:619841
HP:0002719	Recurrent infections	613	BCR	ORPHA:261330
HP:0002719	Recurrent infections	1399	CRKL	ORPHA:261330
HP:0002719	Recurrent infections	5594	MAPK1	ORPHA:261330
HP:0002719	Recurrent infections	3313	HSPA9	OMIM:616854
HP:0002719	Recurrent infections	10686	CLDN16	OMIM:248250
HP:0002719	Recurrent infections	2033	EP300	ORPHA:353284
HP:0002719	Recurrent infections	6595	SMARCA2	OMIM:619293
HP:0002719	Recurrent infections	51726	DNAJB11	ORPHA:730
HP:0002719	Recurrent infections	23193	GANAB	ORPHA:730
HP:0002719	Recurrent infections	5310	PKD1	ORPHA:730
HP:0002719	Recurrent infections	5311	PKD2	ORPHA:730
HP:0002719	Recurrent infections	5311	PKD2	OMIM:613095
HP:0002719	Recurrent infections	29880	ALG5	ORPHA:730
HP:0002719	Recurrent infections	9742	IFT140	ORPHA:730
HP:0002719	Recurrent infections	79796	ALG9	ORPHA:730
HP:0002719	Recurrent infections	80114	BICC1	ORPHA:730
HP:0002719	Recurrent infections	284058	KANSL1	ORPHA:363958
HP:0002719	Recurrent infections	284058	KANSL1	ORPHA:363965
HP:0002719	Recurrent infections	284058	KANSL1	OMIM:610443
HP:0002719	Recurrent infections	54496	PRMT7	OMIM:617157
HP:0002719	Recurrent infections	1136	CHRNA3	OMIM:191800
HP:0002719	Recurrent infections	284252	KCTD1	ORPHA:2036
HP:0002719	Recurrent infections	2019	EN1	OMIM:619218
HP:0002719	Recurrent infections	672	BRCA1	ORPHA:84
HP:0002719	Recurrent infections	10459	MAD2L2	ORPHA:84
HP:0002719	Recurrent infections	7516	XRCC2	ORPHA:84
HP:0002719	Recurrent infections	29089	UBE2T	ORPHA:84
HP:0002719	Recurrent infections	675	BRCA2	ORPHA:84
HP:0002719	Recurrent infections	55120	FANCL	ORPHA:84
HP:0002719	Recurrent infections	2177	FANCD2	ORPHA:84
HP:0002719	Recurrent infections	2175	FANCA	ORPHA:84
HP:0002719	Recurrent infections	2187	FANCB	ORPHA:84
HP:0002719	Recurrent infections	2176	FANCC	ORPHA:84
HP:0002719	Recurrent infections	2178	FANCE	ORPHA:84
HP:0002719	Recurrent infections	2188	FANCF	ORPHA:84
HP:0002719	Recurrent infections	2189	FANCG	ORPHA:84
HP:0002719	Recurrent infections	5888	RAD51	ORPHA:84
HP:0002719	Recurrent infections	5889	RAD51C	ORPHA:84
HP:0002719	Recurrent infections	55159	RFWD3	ORPHA:84
HP:0002719	Recurrent infections	83990	BRIP1	ORPHA:84
HP:0002719	Recurrent infections	57697	FANCM	ORPHA:84
HP:0002719	Recurrent infections	79728	PALB2	ORPHA:84
HP:0002719	Recurrent infections	84464	SLX4	ORPHA:84
HP:0002719	Recurrent infections	2072	ERCC4	ORPHA:84
HP:0002719	Recurrent infections	55215	FANCI	ORPHA:84
HP:0002719	Recurrent infections	546	ATRX	ORPHA:847
HP:0002719	Recurrent infections	8626	TP63	ORPHA:93930
HP:0002719	Recurrent infections	3670	ISL1	ORPHA:93930
HP:0002719	Recurrent infections	3209	HOXA13	ORPHA:2438
HP:0002719	Recurrent infections	4478	MSN	OMIM:300988
HP:0002719	Recurrent infections	10524	KAT5	OMIM:619103
HP:0002719	Recurrent infections	3560	IL2RB	OMIM:618495
HP:0002719	Recurrent infections	84818	IL17RC	ORPHA:1334
HP:0002719	Recurrent infections	64581	CLEC7A	ORPHA:1334
HP:0002719	Recurrent infections	23765	IL17RA	ORPHA:1334
HP:0002719	Recurrent infections	10758	TRAF3IP2	ORPHA:1334
HP:0002719	Recurrent infections	112744	IL17F	ORPHA:1334
HP:0002719	Recurrent infections	149461	CLDN19	OMIM:248190
HP:0002719	Recurrent infections	60495	HPSE2	ORPHA:2704
HP:0002719	Recurrent infections	60495	HPSE2	OMIM:236730
HP:0002719	Recurrent infections	1380	CR2	OMIM:614699
HP:0002719	Recurrent infections	8883	NAE1	OMIM:620210
HP:0002719	Recurrent infections	28982	FLVCR1	OMIM:609033
HP:0002719	Recurrent infections	538	ATP7A	ORPHA:198
HP:0002719	Recurrent infections	84265	POLR3GL	OMIM:619234
HP:0002719	Recurrent infections	54809	SAMD9	OMIM:617053
HP:0002719	Recurrent infections	54914	FOCAD	OMIM:619991
HP:0002719	Recurrent infections	7461	CLIP2	ORPHA:904
HP:0002719	Recurrent infections	84277	DNAJC30	ORPHA:904
HP:0002719	Recurrent infections	8468	FKBP6	ORPHA:904
HP:0002719	Recurrent infections	5982	RFC2	ORPHA:904
HP:0002719	Recurrent infections	2969	GTF2I	ORPHA:904
HP:0002719	Recurrent infections	3984	LIMK1	ORPHA:904
HP:0002719	Recurrent infections	9569	GTF2IRD1	ORPHA:904
HP:0002719	Recurrent infections	155382	VPS37D	ORPHA:904
HP:0002719	Recurrent infections	155368	METTL27	ORPHA:904
HP:0002719	Recurrent infections	114049	BUD23	ORPHA:904
HP:0002719	Recurrent infections	7458	EIF4H	ORPHA:904
HP:0002719	Recurrent infections	84163	GTF2IRD2	ORPHA:904
HP:0002719	Recurrent infections	9275	BCL7B	ORPHA:904
HP:0002719	Recurrent infections	26608	TBL2	ORPHA:904
HP:0002719	Recurrent infections	135886	TMEM270	ORPHA:904
HP:0002719	Recurrent infections	51085	MLXIPL	ORPHA:904
HP:0002719	Recurrent infections	51085	MLXIPL	OMIM:194050
HP:0002719	Recurrent infections	9031	BAZ1B	ORPHA:904
HP:0002719	Recurrent infections	2006	ELN	ORPHA:904
HP:0002719	Recurrent infections	2006	ELN	OMIM:194050
HP:0002719	Recurrent infections	54796	BNC2	ORPHA:93110
HP:0002719	Recurrent infections	10056	FARSB	OMIM:613658
HP:0002719	Recurrent infections	493856	CISD2	ORPHA:3463
HP:0002719	Recurrent infections	7466	WFS1	ORPHA:3463
HP:0002719	Recurrent infections	9380	GRHPR	ORPHA:93599
HP:0002719	Recurrent infections	90417	KNSTRN	ORPHA:221139
HP:0002719	Recurrent infections	8936	WASF1	OMIM:618707
HP:0002719	Recurrent infections	189	AGXT	ORPHA:93598
HP:0002719	Recurrent infections	2131	EXT1	ORPHA:502
HP:0002719	Recurrent infections	7227	TRPS1	ORPHA:502
HP:0002719	Recurrent infections	79228	THOC6	ORPHA:363444
HP:0002719	Recurrent infections	79228	THOC6	OMIM:613680
HP:0002719	Recurrent infections	100147744	RNU7-1	OMIM:619487
HP:0002719	Recurrent infections	374879	ZNF699	OMIM:619488
HP:0002719	Recurrent infections	5971	RELB	OMIM:617585
HP:0002719	Recurrent infections	10398	MYL9	OMIM:619365
HP:0002719	Recurrent infections	10293	TRAIP	OMIM:616777
HP:0002719	Recurrent infections	7148	TNXB	OMIM:615963
HP:0002719	Recurrent infections	9562	MINPP1	OMIM:619527
HP:0002719	Recurrent infections	11128	POLR3A	ORPHA:3455
HP:0002719	Recurrent infections	199221	DZIP1L	ORPHA:731
HP:0002719	Recurrent infections	5314	PKHD1	ORPHA:731
HP:0002719	Recurrent infections	55343	SLC35C1	ORPHA:99843
HP:0002719	Recurrent infections	353	APRT	ORPHA:976
HP:0002719	Recurrent infections	9968	MED12	OMIM:301068
HP:0002719	Recurrent infections	403	ARL3	OMIM:618161
HP:0002719	Recurrent infections	6524	SLC5A2	ORPHA:69076
HP:0002719	Recurrent infections	7994	KAT6A	OMIM:616268
HP:0002719	Recurrent infections	64321	SOX17	OMIM:613674
HP:0002719	Recurrent infections	4052	LTBP1	ORPHA:90349
HP:0002719	Recurrent infections	30008	EFEMP2	ORPHA:90349
HP:0002719	Recurrent infections	10516	FBLN5	ORPHA:90349
HP:0002719	Recurrent infections	3110	MNX1	OMIM:176450
HP:0002719	Recurrent infections	2303	FOXC2	ORPHA:33001
HP:0002719	Recurrent infections	641	BLM	ORPHA:125
HP:0002719	Recurrent infections	56246	MRAP	ORPHA:361
HP:0002719	Recurrent infections	6770	STAR	ORPHA:361
HP:0002719	Recurrent infections	4158	MC2R	ORPHA:361
HP:0002719	Recurrent infections	23530	NNT	ORPHA:361
HP:0002719	Recurrent infections	10587	TXNRD2	ORPHA:361
HP:0002719	Recurrent infections	4001	LMNB1	ORPHA:99027
HP:0002719	Recurrent infections	100	ADA	ORPHA:277
HP:0002719	Recurrent infections	3071	NCKAP1L	OMIM:618982
HP:0002719	Recurrent infections	8367	H4C5	OMIM:619950
HP:0002719	Recurrent infections	5728	PTEN	OMIM:605309
HP:0002719	Recurrent infections	987	LRBA	OMIM:614700
HP:0002719	Recurrent infections	64682	ANAPC1	OMIM:618625
HP:0002719	Recurrent infections	9839	ZEB2	OMIM:235730
HP:0002719	Recurrent infections	9839	ZEB2	ORPHA:261552
HP:0002719	Recurrent infections	9839	ZEB2	ORPHA:261537
HP:0002719	Recurrent infections	80232	WDR26	ORPHA:513456
HP:0002719	Recurrent infections	80232	WDR26	OMIM:617616
HP:0002719	Recurrent infections	4487	MSX1	ORPHA:199306
HP:0002719	Recurrent infections	5818	NECTIN1	ORPHA:199306
HP:0002719	Recurrent infections	1739	DLG1	ORPHA:199306
HP:0002719	Recurrent infections	652	BMP4	ORPHA:199306
HP:0002719	Recurrent infections	999	CDH1	ORPHA:199306
HP:0002719	Recurrent infections	5156	PDGFRA	ORPHA:199306
HP:0002719	Recurrent infections	3664	IRF6	ORPHA:199306
HP:0002719	Recurrent infections	9411	ARHGAP29	ORPHA:199306
HP:0002719	Recurrent infections	1748	DLX4	ORPHA:199306
HP:0002719	Recurrent infections	51111	KMT5B	OMIM:617788
HP:0002719	Recurrent infections	146845	CFAP52	OMIM:619607
HP:0002719	Recurrent infections	3543	IGLL1	OMIM:613500
HP:0002719	Recurrent infections	144568	A2ML1	OMIM:166760
HP:0002719	Recurrent infections	29760	BLNK	OMIM:613502
HP:0002719	Recurrent infections	79158	GNPTAB	OMIM:252500
HP:0002719	Recurrent infections	8382	NME5	OMIM:620032
HP:0002719	Recurrent infections	1301	COL11A1	OMIM:154780
HP:0002719	Recurrent infections	54	ACP5	OMIM:607944
HP:0002719	Recurrent infections	56992	KIF15	ORPHA:261323
HP:0002719	Recurrent infections	115650	TNFRSF13C	OMIM:240500
HP:0002719	Recurrent infections	29851	ICOS	OMIM:240500
HP:0002719	Recurrent infections	29851	ICOS	OMIM:607594
HP:0002719	Recurrent infections	930	CD19	OMIM:240500
HP:0002719	Recurrent infections	930	CD19	OMIM:613493
HP:0002719	Recurrent infections	3572	IL6ST	OMIM:618523
HP:0002719	Recurrent infections	1717	DHCR7	OMIM:270400
HP:0002719	Recurrent infections	6899	TBX1	OMIM:188400
HP:0002719	Recurrent infections	6885	MAP3K7	OMIM:157800
HP:0002719	Recurrent infections	2783	GNB2	OMIM:619503
HP:0002719	Recurrent infections	3425	IDUA	OMIM:607014
HP:0002719	Recurrent infections	2214	FCGR3A	OMIM:615707
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:616482
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:100800
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:602849
HP:0002719	Recurrent infections	56006	SMG9	OMIM:619995
HP:0002719	Recurrent infections	8260	NAA10	OMIM:309800
HP:0002719	Recurrent infections	8260	NAA10	OMIM:300855
HP:0002719	Recurrent infections	54880	BCOR	OMIM:309800
HP:0002719	Recurrent infections	6135	RPL11	OMIM:612562
HP:0002719	Recurrent infections	8364	H4C3	OMIM:619758
HP:0002719	Recurrent infections	54499	TMCO1	OMIM:213980
HP:0002719	Recurrent infections	3507	IGHM	OMIM:601495
HP:0002719	Recurrent infections	8314	BAP1	OMIM:619762
HP:0002719	Recurrent infections	27086	FOXP1	ORPHA:391372
HP:0002719	Recurrent infections	4256	MGP	ORPHA:85202
HP:0002719	Recurrent infections	4256	MGP	OMIM:245150
HP:0002719	Recurrent infections	974	CD79B	OMIM:612692
HP:0002719	Recurrent infections	113179	ADAT3	OMIM:615286
HP:0002719	Recurrent infections	113179	ADAT3	ORPHA:363528
HP:0002719	Recurrent infections	2542	SLC37A4	OMIM:619525
HP:0002719	Recurrent infections	3373	HYAL1	OMIM:601492
HP:0002719	Recurrent infections	2535	FZD2	OMIM:164745
HP:0002719	Recurrent infections	7030	TFE3	OMIM:301066
HP:0002719	Recurrent infections	3423	IDS	OMIM:309900
HP:0002719	Recurrent infections	6603	SMARCD2	OMIM:617475
HP:0002719	Recurrent infections	84522	JAGN1	OMIM:616022
HP:0002719	Recurrent infections	6929	TCF3	OMIM:616941
HP:0002719	Recurrent infections	3930	LBR	OMIM:169400
HP:0002719	Recurrent infections	2742	GLRA2	OMIM:301076
HP:0002719	Recurrent infections	55023	PHIP	ORPHA:589905
HP:0002719	Recurrent infections	29072	SETD2	OMIM:616831
HP:0002719	Recurrent infections	2316	FLNA	OMIM:309350
HP:0002719	Recurrent infections	1642	DDB1	OMIM:619426
HP:0002719	Recurrent infections	388015	RTL1	ORPHA:254531
HP:0002719	Recurrent infections	388015	RTL1	ORPHA:96184
HP:0002719	Recurrent infections	8788	DLK1	ORPHA:254531
HP:0002719	Recurrent infections	8788	DLK1	ORPHA:96184
HP:0002719	Recurrent infections	55384	MEG3	ORPHA:254531
HP:0002719	Recurrent infections	55384	MEG3	ORPHA:96184
HP:0002719	Recurrent infections	10806	SDCCAG8	OMIM:615993
HP:0002719	Recurrent infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002719	Recurrent infections	100151683	RNU4ATAC	OMIM:616651
HP:0002719	Recurrent infections	9094	UNC119	OMIM:615518
HP:0002719	Recurrent infections	7314	UBB	ORPHA:99772
HP:0002719	Recurrent infections	57822	GRHL3	ORPHA:99772
HP:0002719	Recurrent infections	5575	PRKAR1B	OMIM:619680
HP:0002719	Recurrent infections	10847	SRCAP	OMIM:136140
HP:0002719	Recurrent infections	4297	KMT2A	OMIM:605130
HP:0002719	Recurrent infections	57551	TAOK1	OMIM:619575
HP:0002719	Recurrent infections	84061	MAGT1	OMIM:300853
HP:0002719	Recurrent infections	2332	FMR1	ORPHA:449291
HP:0002719	Recurrent infections	6045	RNF2	OMIM:619460
HP:0002719	Recurrent infections	1280	COL2A1	OMIM:156550
HP:0002719	Recurrent infections	5718	PSMD12	ORPHA:529962
HP:0002719	Recurrent infections	2186	BPTF	ORPHA:529962
HP:0002719	Recurrent infections	1822	ATN1	OMIM:618494
HP:0002719	Recurrent infections	7403	KDM6A	OMIM:300867
HP:0002719	Recurrent infections	7403	KDM6A	OMIM:147920
HP:0002719	Recurrent infections	57003	CCDC47	OMIM:618268
HP:0002719	Recurrent infections	5977	DPF2	OMIM:618027
HP:0002719	Recurrent infections	55329	MNS1	OMIM:618948
HP:0002719	Recurrent infections	920	CD4	OMIM:619238
HP:0002719	Recurrent infections	3570	IL6R	OMIM:618944
HP:0002719	Recurrent infections	23112	TNRC6B	OMIM:619243
HP:0002719	Recurrent infections	51816	ADA2	OMIM:615688
HP:0002719	Recurrent infections	50615	IL21R	OMIM:615207
HP:0002719	Recurrent infections	2799	GNS	OMIM:252940
HP:0002719	Recurrent infections	5879	RAC1	OMIM:617751
HP:0002719	Recurrent infections	5879	RAC1	ORPHA:500159
HP:0002719	Recurrent infections	2990	GUSB	OMIM:253220
HP:0002719	Recurrent infections	5236	PGM1	OMIM:614921
HP:0002719	Recurrent infections	6850	SYK	OMIM:619381
HP:0002719	Recurrent infections	341208	HEPHL1	OMIM:261990
HP:0002719	Recurrent infections	721	C4B	OMIM:614379
HP:0002719	Recurrent infections	6736	SRY	ORPHA:1772
HP:0002719	Recurrent infections	5130	PCYT1A	OMIM:608940
HP:0002719	Recurrent infections	5696	PSMB8	OMIM:256040
HP:0002719	Recurrent infections	8085	KMT2D	OMIM:147920
HP:0002719	Recurrent infections	3909	LAMA3	ORPHA:79404
HP:0002719	Recurrent infections	3918	LAMC2	ORPHA:79404
HP:0002719	Recurrent infections	3914	LAMB3	ORPHA:79404
HP:0002719	Recurrent infections	3587	IL10RA	OMIM:613148
HP:0002719	Recurrent infections	5393	EXOSC9	OMIM:618065
HP:0002719	Recurrent infections	10054	UBA2	OMIM:619959
HP:0002719	Recurrent infections	7360	UGP2	OMIM:618744
HP:0002719	Recurrent infections	128178	EDARADD	OMIM:614941
HP:0002719	Recurrent infections	79848	CSPP1	ORPHA:397715
HP:0002719	Recurrent infections	9786	KIAA0586	ORPHA:397715
HP:0002719	Recurrent infections	5354	PLP1	ORPHA:99015
HP:0002719	Recurrent infections	249	ALPL	OMIM:241500
HP:0002719	Recurrent infections	51506	UFC1	OMIM:618076
HP:0002719	Recurrent infections	283489	CHAMP1	OMIM:616579
HP:0002719	Recurrent infections	25782	RAB3GAP2	OMIM:212720
HP:0002719	Recurrent infections	55768	NGLY1	ORPHA:404454
HP:0002719	Recurrent infections	55768	NGLY1	OMIM:615273
HP:0002719	Recurrent infections	6261	RYR1	OMIM:255320
HP:0002719	Recurrent infections	6261	RYR1	ORPHA:424107
HP:0002719	Recurrent infections	6261	RYR1	ORPHA:98905
HP:0002719	Recurrent infections	9326	ZNHIT3	ORPHA:2836
HP:0002719	Recurrent infections	547	KIF1A	ORPHA:2836
HP:0002719	Recurrent infections	64359	NXN	ORPHA:1507
HP:0002719	Recurrent infections	4920	ROR2	ORPHA:1507
HP:0002719	Recurrent infections	100303755	PET117	OMIM:619063
HP:0002719	Recurrent infections	54872	PIGG	ORPHA:280
HP:0002719	Recurrent infections	7469	NELFA	ORPHA:280
HP:0002719	Recurrent infections	1487	CTBP1	ORPHA:280
HP:0002719	Recurrent infections	3954	LETM1	ORPHA:280
HP:0002719	Recurrent infections	7468	NSD2	ORPHA:280
HP:0002719	Recurrent infections	57190	SELENON	ORPHA:2020
HP:0002719	Recurrent infections	58	ACTA1	ORPHA:2020
HP:0002719	Recurrent infections	4633	MYL2	ORPHA:2020
HP:0002719	Recurrent infections	3679	ITGA7	ORPHA:2020
HP:0002719	Recurrent infections	7169	TPM2	ORPHA:2020
HP:0002719	Recurrent infections	9200	HACD1	ORPHA:2020
HP:0002719	Recurrent infections	7170	TPM3	ORPHA:2020
HP:0002719	Recurrent infections	51776	MAP3K20	ORPHA:2020
HP:0002719	Recurrent infections	567	B2M	OMIM:241600
HP:0002719	Recurrent infections	1789	DNMT3B	ORPHA:2268
HP:0002719	Recurrent infections	2752	GLUL	OMIM:610015
HP:0002719	Recurrent infections	175	AGA	ORPHA:93
HP:0002719	Recurrent infections	175	AGA	OMIM:208400
HP:0002719	Recurrent infections	4853	NOTCH2	ORPHA:955
HP:0002719	Recurrent infections	113278	SLC52A3	OMIM:211530
HP:0002719	Recurrent infections	4534	MTM1	ORPHA:596
HP:0002719	Recurrent infections	330	BIRC3	ORPHA:52417
HP:0002719	Recurrent infections	3492	IGH	ORPHA:52417
HP:0002719	Recurrent infections	57217	TTC7A	OMIM:243150
HP:0002719	Recurrent infections	55773	TBC1D23	OMIM:617695
HP:0002719	Recurrent infections	9508	ADAMTS3	ORPHA:2136
HP:0002719	Recurrent infections	147372	CCBE1	ORPHA:2136
HP:0002719	Recurrent infections	79633	FAT4	ORPHA:2136
HP:0002719	Recurrent infections	3115	HLA-DPB1	ORPHA:900
HP:0002719	Recurrent infections	5657	PRTN3	ORPHA:900
HP:0002719	Recurrent infections	3113	HLA-DPA1	ORPHA:900
HP:0002719	Recurrent infections	3675	ITGA3	OMIM:614748
HP:0002719	Recurrent infections	415	ARSL	ORPHA:79345
HP:0002719	Recurrent infections	6609	SMPD1	OMIM:257200
HP:0002719	Recurrent infections	6609	SMPD1	OMIM:607616
HP:0002719	Recurrent infections	9321	TRIP11	OMIM:184260
HP:0002719	Recurrent infections	9772	TMEM94	OMIM:618316
HP:0002719	Recurrent infections	26154	ABCA12	ORPHA:457
HP:0002719	Recurrent infections	26154	ABCA12	ORPHA:313
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:98754
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177904
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177901
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177907
HP:0002719	Recurrent infections	4692	NDN	ORPHA:98754
HP:0002719	Recurrent infections	4692	NDN	ORPHA:177904
HP:0002719	Recurrent infections	4692	NDN	ORPHA:177901
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:98754
HP:0002719	Recurrent infections	54551	MAGEL2	OMIM:176270
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:177904
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:177901
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:398069
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:98754
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:177904
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:177901
HP:0002719	Recurrent infections	145873	MESP2	OMIM:608681
HP:0002719	Recurrent infections	145873	MESP2	OMIM:277300
HP:0002719	Recurrent infections	197258	FCSK	OMIM:618324
HP:0002719	Recurrent infections	23219	FBXO28	OMIM:619777
HP:0002719	Recurrent infections	51322	WAC	ORPHA:466950
HP:0002719	Recurrent infections	6509	SLC1A4	ORPHA:447997
HP:0002719	Recurrent infections	2000	ELF4	OMIM:301074
HP:0002719	Recurrent infections	51053	GMNN	OMIM:616835
HP:0002719	Recurrent infections	5062	PAK2	OMIM:618458
HP:0002719	Recurrent infections	1828	DSG1	OMIM:615508
HP:0002719	Recurrent infections	79751	SLC25A22	ORPHA:1935
HP:0002719	Recurrent infections	150094	SIK1	ORPHA:1935
HP:0002719	Recurrent infections	5830	PEX5	OMIM:616716
HP:0002719	Recurrent infections	219285	SAMD9L	ORPHA:2585
HP:0002719	Recurrent infections	204	AK2	ORPHA:33355
HP:0002719	Recurrent infections	1288	COL4A6	ORPHA:1018
HP:0002719	Recurrent infections	1287	COL4A5	ORPHA:1018
HP:0002719	Recurrent infections	89891	DYNC2I2	OMIM:615633
HP:0002719	Recurrent infections	8818	DPM2	ORPHA:329178
HP:0002719	Recurrent infections	7681	MKRN3	OMIM:176270
HP:0002719	Recurrent infections	3653	IPW	OMIM:176270
HP:0002719	Recurrent infections	791114	PWRN1	OMIM:176270
HP:0002719	Recurrent infections	100033413	SNORD116-1	OMIM:176270
HP:0002719	Recurrent infections	8924	HERC2	OMIM:176270
HP:0002719	Recurrent infections	145624	PWAR1	OMIM:176270
HP:0002719	Recurrent infections	23742	NPAP1	OMIM:176270
HP:0002719	Recurrent infections	338433	SNORD115-1	OMIM:176270
HP:0002719	Recurrent infections	1186	CLCN7	ORPHA:667
HP:0002719	Recurrent infections	29887	SNX10	ORPHA:667
HP:0002719	Recurrent infections	8600	TNFSF11	ORPHA:667
HP:0002719	Recurrent infections	7372	UMPS	ORPHA:30
HP:0002719	Recurrent infections	23114	NFASC	OMIM:618356
HP:0002719	Recurrent infections	6606	SMN1	OMIM:253550
HP:0002719	Recurrent infections	6606	SMN1	OMIM:253300
HP:0002719	Recurrent infections	83479	DDX59	OMIM:174300
HP:0002719	Recurrent infections	6492	SIM1	ORPHA:398079
HP:0002719	Recurrent infections	59067	IL21	OMIM:615767
HP:0002719	Recurrent infections	7248	TSC1	ORPHA:538
HP:0002719	Recurrent infections	7249	TSC2	ORPHA:538
HP:0002719	Recurrent infections	10683	DLL3	OMIM:277300
HP:0002719	Recurrent infections	4952	OCRL	ORPHA:534
HP:0002719	Recurrent infections	4621	MYH3	OMIM:193700
HP:0002719	Recurrent infections	6335	SCN9A	ORPHA:90026
HP:0002719	Recurrent infections	11280	SCN11A	ORPHA:90026
HP:0002719	Recurrent infections	6336	SCN10A	ORPHA:90026
HP:0002719	Recurrent infections	55764	IFT122	OMIM:218330
HP:0002719	Recurrent infections	7703	PCGF2	OMIM:618371
HP:0002719	Recurrent infections	774	CACNA1B	OMIM:618497
HP:0002719	Recurrent infections	7161	TP73	OMIM:619466
HP:0002719	Recurrent infections	254428	SLC41A1	OMIM:619468
HP:0002719	Recurrent infections	51300	TIMMDC1	OMIM:618251
HP:0002719	Recurrent infections	8802	SUCLG1	ORPHA:17
HP:0002719	Recurrent infections	860	RUNX2	ORPHA:1452
HP:0002719	Recurrent infections	151516	ASPRV1	ORPHA:313
HP:0002719	Recurrent infections	242	ALOX12B	ORPHA:313
HP:0002719	Recurrent infections	126410	CYP4F22	ORPHA:313
HP:0002719	Recurrent infections	6820	SULT2B1	ORPHA:313
HP:0002719	Recurrent infections	643418	LIPN	ORPHA:313
HP:0002719	Recurrent infections	59344	ALOXE3	ORPHA:313
HP:0002719	Recurrent infections	348938	NIPAL4	ORPHA:313
HP:0002719	Recurrent infections	7051	TGM1	ORPHA:313
HP:0002719	Recurrent infections	8943	AP3D1	OMIM:617050
HP:0002719	Recurrent infections	2517	FUCA1	OMIM:230000
HP:0002719	Recurrent infections	2548	GAA	OMIM:232300
HP:0002719	Recurrent infections	84665	MYPN	ORPHA:75249
HP:0002719	Recurrent infections	2318	FLNC	ORPHA:75249
HP:0002719	Recurrent infections	7139	TNNT2	ORPHA:75249
HP:0002719	Recurrent infections	7137	TNNI3	ORPHA:75249
HP:0002719	Recurrent infections	10112	KIF20A	ORPHA:75249
HP:0002719	Recurrent infections	1836	SLC26A2	ORPHA:628
HP:0002719	Recurrent infections	3636	INPPL1	OMIM:258480
HP:0002719	Recurrent infections	3636	INPPL1	ORPHA:2746
HP:0002719	Recurrent infections	2077	ERF	OMIM:617180
HP:0002719	Recurrent infections	55617	TASP1	OMIM:618950
HP:0002719	Recurrent infections	54790	TET2	OMIM:619126
HP:0002719	Recurrent infections	51124	IER3IP1	OMIM:614231
HP:0002719	Recurrent infections	57477	SHROOM4	ORPHA:85288
HP:0002719	Recurrent infections	84340	GFM2	OMIM:618397
HP:0002719	Recurrent infections	6911	TBX6	ORPHA:1797
HP:0002719	Recurrent infections	2890	GRIA1	OMIM:619927
HP:0002719	Recurrent infections	60482	SLC5A7	ORPHA:98914
HP:0002719	Recurrent infections	4649	MYO9A	ORPHA:98914
HP:0002719	Recurrent infections	1103	CHAT	ORPHA:98914
HP:0002719	Recurrent infections	6576	SLC25A1	ORPHA:98914
HP:0002719	Recurrent infections	6843	VAMP1	ORPHA:98914
HP:0002719	Recurrent infections	375790	AGRN	ORPHA:98914
HP:0002719	Recurrent infections	127833	SYT2	ORPHA:98914
HP:0002719	Recurrent infections	6572	SLC18A3	ORPHA:98914
HP:0002719	Recurrent infections	6616	SNAP25	ORPHA:98914
HP:0002719	Recurrent infections	1893	ECM1	ORPHA:530
HP:0002719	Recurrent infections	9895	TECPR2	ORPHA:320385
HP:0002719	Recurrent infections	4938	OAS1	OMIM:618042
HP:0002719	Recurrent infections	8651	SOCS1	OMIM:619375
HP:0002719	Recurrent infections	738	VPS51	OMIM:618606
HP:0002719	Recurrent infections	5116	PCNT	ORPHA:2637
HP:0002719	Recurrent infections	5430	POLR2A	OMIM:618603
HP:0002719	Recurrent infections	23522	KAT6B	ORPHA:3047
HP:0002719	Recurrent infections	26123	TCTN3	ORPHA:2753
HP:0002719	Recurrent infections	9897	WASHC5	ORPHA:7
HP:0002719	Recurrent infections	28952	CCDC22	ORPHA:7
HP:0002719	Recurrent infections	129285	PPP1R21	OMIM:619383
HP:0002719	Recurrent infections	80169	CTC1	ORPHA:1775
HP:0002719	Recurrent infections	26277	TINF2	ORPHA:1775
HP:0002719	Recurrent infections	55135	WRAP53	ORPHA:1775
HP:0002719	Recurrent infections	51750	RTEL1	ORPHA:1775
HP:0002719	Recurrent infections	4869	NPM1	ORPHA:1775
HP:0002719	Recurrent infections	55505	NOP10	ORPHA:1775
HP:0002719	Recurrent infections	5073	PARN	ORPHA:1775
HP:0002719	Recurrent infections	1736	DKC1	ORPHA:1775
HP:0002719	Recurrent infections	406932	MIR140	OMIM:618618
HP:0002719	Recurrent infections	25871	NEPRO	OMIM:618853
HP:0002719	Recurrent infections	9325	TRIP4	ORPHA:486815
HP:0002719	Recurrent infections	7092	TLL1	ORPHA:99103
HP:0002719	Recurrent infections	57057	TBX20	ORPHA:99103
HP:0002719	Recurrent infections	4624	MYH6	ORPHA:99103
HP:0002719	Recurrent infections	1482	NKX2-5	ORPHA:99103
HP:0002719	Recurrent infections	70	ACTC1	ORPHA:99103
HP:0002719	Recurrent infections	10370	CITED2	ORPHA:99103
HP:0002719	Recurrent infections	2626	GATA4	ORPHA:99103
HP:0002719	Recurrent infections	2627	GATA6	ORPHA:99103
HP:0002719	Recurrent infections	9056	SLC7A7	ORPHA:470
HP:0002719	Recurrent infections	6905	TBCE	OMIM:241410
HP:0002719	Recurrent infections	6905	TBCE	OMIM:244460
HP:0002719	Recurrent infections	931	MS4A1	OMIM:613495
HP:0002719	Recurrent infections	8517	IKBKG	OMIM:300636
HP:0002719	Recurrent infections	8517	IKBKG	OMIM:300291
HP:0002719	Recurrent infections	975	CD81	OMIM:613496
HP:0002719	Recurrent infections	83706	FERMT3	OMIM:612840
HP:0002719	Recurrent infections	22806	IKZF3	OMIM:619437
HP:0002719	Recurrent infections	718	C3	OMIM:613779
HP:0002719	Recurrent infections	6789	STK4	OMIM:614868
HP:0002719	Recurrent infections	1776	DNASE1L3	ORPHA:36412
HP:0002719	Recurrent infections	3075	CFH	OMIM:609814
HP:0002719	Recurrent infections	79840	NHEJ1	ORPHA:169079
HP:0002719	Recurrent infections	925	CD8A	OMIM:608957
HP:0002719	Recurrent infections	10559	SLC35A1	OMIM:603585
HP:0002719	Recurrent infections	5873	RAB27A	OMIM:607624
HP:0002719	Recurrent infections	51371	POMP	OMIM:618048
HP:0002719	Recurrent infections	7922	SLC39A7	OMIM:619693
HP:0002719	Recurrent infections	50619	DEF6	OMIM:619573
HP:0002719	Recurrent infections	10616	RBCK1	OMIM:615895
HP:0002719	Recurrent infections	1675	CFD	OMIM:613912
HP:0002719	Recurrent infections	958	CD40	OMIM:606843
HP:0002719	Recurrent infections	1053	CEBPE	OMIM:245480
HP:0002719	Recurrent infections	10320	IKZF1	OMIM:616873
HP:0002719	Recurrent infections	10456	HAX1	OMIM:610738
HP:0002719	Recurrent infections	27183	VPS4A	OMIM:619273
HP:0002719	Recurrent infections	7528	YY1	ORPHA:506358
HP:0002719	Recurrent infections	7528	YY1	OMIM:617557
HP:0002719	Recurrent infections	26960	NBEA	OMIM:619157
HP:0002719	Recurrent infections	26235	FBXL4	OMIM:615471
HP:0002719	Recurrent infections	6777	STAT5B	OMIM:618985
HP:0002719	Recurrent infections	5238	PGM3	ORPHA:443811
HP:0002719	Recurrent infections	3119	HLA-DQB1	ORPHA:703
HP:0002719	Recurrent infections	8854	ALDH1A2	OMIM:620025
HP:0002719	Recurrent infections	7018	TF	ORPHA:1195
HP:0002719	Recurrent infections	4522	MTHFD1	OMIM:617780
HP:0002719	Recurrent infections	939	CD27	OMIM:615122
HP:0002719	Recurrent infections	80816	ASXL3	OMIM:615485
HP:0002719	Recurrent infections	89910	UBE3B	OMIM:244450
HP:0002719	Recurrent infections	84433	CARD11	OMIM:616452
HP:0002719	Recurrent infections	2137	EXTL3	OMIM:617425
HP:0002719	Recurrent infections	55788	LMBRD1	OMIM:277380
HP:0002719	Recurrent infections	55788	LMBRD1	ORPHA:79284
HP:0002719	Recurrent infections	9382	COG1	OMIM:611209
HP:0002719	Recurrent infections	4868	NPHS1	OMIM:256300
HP:0002719	Recurrent infections	7298	TYMS	OMIM:620040
HP:0002719	Recurrent infections	3458	IFNG	ORPHA:88
HP:0002719	Recurrent infections	5551	PRF1	ORPHA:88
HP:0002719	Recurrent infections	7012	TERC	ORPHA:88
HP:0002719	Recurrent infections	51119	SBDS	ORPHA:88
HP:0002719	Recurrent infections	51119	SBDS	OMIM:260400
HP:0002719	Recurrent infections	7015	TERT	ORPHA:88
HP:0002719	Recurrent infections	9739	SETD1A	OMIM:619056
HP:0002719	Recurrent infections	80204	FBXO11	OMIM:618089
HP:0002719	Recurrent infections	84876	ORAI1	OMIM:612782
HP:0002719	Recurrent infections	6786	STIM1	OMIM:612783
HP:0002719	Recurrent infections	340061	STING1	OMIM:615934
HP:0002719	Recurrent infections	4210	MEFV	ORPHA:3243
HP:0002719	Recurrent infections	8772	FADD	OMIM:613759
HP:0002719	Recurrent infections	171023	ASXL1	ORPHA:97297
HP:0002719	Recurrent infections	171023	ASXL1	OMIM:605039
HP:0002719	Recurrent infections	64919	BCL11B	OMIM:618092
HP:0002719	Recurrent infections	1656	DDX6	OMIM:618653
HP:0002719	Recurrent infections	7156	TOP3A	OMIM:618097
HP:0002719	Recurrent infections	3070	HELLS	OMIM:616911
HP:0002719	Recurrent infections	26057	ANKRD17	OMIM:619504
HP:0002719	Recurrent infections	83879	CDCA7	OMIM:616910
HP:0002719	Recurrent infections	84947	SERAC1	OMIM:614739
HP:0002719	Recurrent infections	10522	DEAF1	OMIM:615828
HP:0002719	Recurrent infections	10522	DEAF1	ORPHA:468620
HP:0002719	Recurrent infections	1499	CTNNB1	ORPHA:54595
HP:0002719	Recurrent infections	3043	HBB	ORPHA:232
HP:0002719	Recurrent infections	3981	LIG4	ORPHA:235
HP:0002719	Recurrent infections	54888	NSUN2	ORPHA:235
HP:0002719	Recurrent infections	8493	PPM1D	OMIM:617450
HP:0002719	Recurrent infections	23126	POGZ	OMIM:616364
HP:0002719	Recurrent infections	6023	RMRP	OMIM:250250
HP:0002719	Recurrent infections	712	C1QA	OMIM:613652
HP:0002719	Recurrent infections	51692	CPSF3	OMIM:619876
HP:0002719	Recurrent infections	6134	RPL10	ORPHA:459070
HP:0002719	Recurrent infections	6134	RPL10	OMIM:300998
HP:0002719	Recurrent infections	6134	RPL10	ORPHA:435938
HP:0002719	Recurrent infections	83475	DOHH	OMIM:620066
HP:0002719	Recurrent infections	55719	SLF2	OMIM:620184
HP:0002719	Recurrent infections	92667	MGME1	ORPHA:352447
HP:0002719	Recurrent infections	92667	MGME1	OMIM:615084
HP:0002719	Recurrent infections	56052	ALG1	ORPHA:79327
HP:0002719	Recurrent infections	715	C1R	OMIM:130080
HP:0002719	Recurrent infections	79813	EHMT1	ORPHA:261652
HP:0002719	Recurrent infections	58508	KMT2C	ORPHA:261652
HP:0002719	Recurrent infections	11311	VPS45	OMIM:615285
HP:0002719	Recurrent infections	50485	SMARCAL1	ORPHA:1830
HP:0002719	Recurrent infections	50485	SMARCAL1	OMIM:242900
HP:0002719	Recurrent infections	9993	DGCR2	OMIM:192430
HP:0002719	Recurrent infections	8220	ESS2	OMIM:192430
HP:0002719	Recurrent infections	8214	DGCR6	OMIM:192430
HP:0002719	Recurrent infections	54487	DGCR8	OMIM:192430
HP:0002719	Recurrent infections	91949	COG7	ORPHA:79333
HP:0002719	Recurrent infections	91949	COG7	OMIM:608779
HP:0002719	Recurrent infections	775	CACNA1C	OMIM:601005
HP:0002719	Recurrent infections	7355	SLC35A2	OMIM:300896
HP:0002719	Recurrent infections	5692	PSMB4	OMIM:617591
HP:0002719	Recurrent infections	5698	PSMB9	OMIM:617591
HP:0002719	Recurrent infections	64116	SLC39A8	ORPHA:468699
HP:0002719	Recurrent infections	64116	SLC39A8	OMIM:616721
HP:0002719	Recurrent infections	10195	ALG3	ORPHA:79321
HP:0002719	Recurrent infections	8295	TRRAP	OMIM:618454
HP:0002719	Recurrent infections	3980	LIG3	OMIM:619780
HP:0002719	Recurrent infections	5256	PHKA2	ORPHA:264580
HP:0002719	Recurrent infections	5261	PHKG2	ORPHA:264580
HP:0002719	Recurrent infections	3394	IRF8	OMIM:614893
HP:0002719	Recurrent infections	3394	IRF8	OMIM:226990
HP:0002719	Recurrent infections	284119	CAVIN1	OMIM:613327
HP:0002719	Recurrent infections	57724	EPG5	ORPHA:1493
HP:0002719	Recurrent infections	56262	LRRC8A	ORPHA:33110
HP:0002719	Recurrent infections	10159	ATP6AP2	OMIM:301045
HP:0002719	Recurrent infections	1441	CSF3R	OMIM:617014
HP:0002719	Recurrent infections	128869	PIGU	OMIM:618590
HP:0002719	Recurrent infections	79868	ALG13	OMIM:300884
HP:0002719	Recurrent infections	134218	DNAJC21	OMIM:260400
HP:0002719	Recurrent infections	134218	DNAJC21	OMIM:617052
HP:0002719	Recurrent infections	79631	EFL1	OMIM:617941
HP:0002719	Recurrent infections	169792	GLIS3	OMIM:610199
HP:0002719	Recurrent infections	998	CDC42	OMIM:616737
HP:0002719	Recurrent infections	998	CDC42	ORPHA:487796
HP:0002719	Recurrent infections	27185	DISC1	ORPHA:171703
HP:0002719	Recurrent infections	8320	EOMES	ORPHA:171703
HP:0002719	Recurrent infections	9837	GINS1	OMIM:617827
HP:0002719	Recurrent infections	537	ATP6AP1	OMIM:300972
HP:0002719	Recurrent infections	3643	INSR	OMIM:246200
HP:0002719	Recurrent infections	3643	INSR	ORPHA:769
HP:0002719	Recurrent infections	3376	IARS1	ORPHA:541423
HP:0002719	Recurrent infections	2917	GRM7	OMIM:618922
HP:0002719	Recurrent infections	5257	PHKB	ORPHA:79240
HP:0002719	Recurrent infections	10095	ARPC1B	OMIM:617718
HP:0002719	Recurrent infections	9361	LONP1	ORPHA:79243
HP:0002719	Recurrent infections	5160	PDHA1	ORPHA:79243
HP:0002719	Recurrent infections	5422	POLA1	OMIM:301030
HP:0002719	Recurrent infections	25942	SIN3A	ORPHA:94065
HP:0002719	Recurrent infections	3977	LIFR	OMIM:601559
HP:0002719	Recurrent infections	4126	MANBA	OMIM:248510
HP:0002719	Recurrent infections	55340	GIMAP5	OMIM:619463
HP:0002719	Recurrent infections	57511	COG6	OMIM:614576
HP:0002719	Recurrent infections	9419	CRIPT	OMIM:615789
HP:0002719	Recurrent infections	970	CD70	OMIM:618261
HP:0002719	Recurrent infections	4629	MYH11	OMIM:619351
HP:0002719	Recurrent infections	2892	GRIA3	ORPHA:364028
HP:0002719	Recurrent infections	3702	ITK	OMIM:613011
HP:0002719	Recurrent infections	29927	SEC61A1	OMIM:617056
HP:0002719	Recurrent infections	23568	ARL2BP	OMIM:615434
HP:0002719	Recurrent infections	10815	CPLX1	OMIM:617976
HP:0002719	Recurrent infections	6513	SLC2A1	ORPHA:168577
HP:0002719	Recurrent infections	207	AKT1	ORPHA:744
HP:0002719	Recurrent infections	7204	TRIO	OMIM:617061
HP:0002719	Recurrent infections	7204	TRIO	ORPHA:476126
HP:0002719	Recurrent infections	8915	BCL10	OMIM:616098
HP:0002719	Recurrent infections	3845	KRAS	OMIM:614470
HP:0002719	Recurrent infections	4893	NRAS	OMIM:614470
HP:0002719	Recurrent infections	374354	NHLRC2	OMIM:618278
HP:0002719	Recurrent infections	283989	TSEN54	ORPHA:2524
HP:0002719	Recurrent infections	116461	TSEN15	ORPHA:2524
HP:0002719	Recurrent infections	79042	TSEN34	ORPHA:2524
HP:0002719	Recurrent infections	80746	TSEN2	ORPHA:2524
HP:0002719	Recurrent infections	51091	SEPSECS	ORPHA:2524
HP:0002719	Recurrent infections	6651	SON	ORPHA:500150
HP:0002719	Recurrent infections	3937	LCP2	OMIM:619374
HP:0002719	Recurrent infections	5970	RELA	OMIM:618287
HP:0002719	Recurrent infections	27040	LAT	OMIM:617514
HP:0002719	Recurrent infections	2806	GOT2	OMIM:618721
HP:0002719	Recurrent infections	5557	PRIM1	OMIM:620005
HP:0002719	Recurrent infections	23389	MED13L	OMIM:616789
HP:0002719	Recurrent infections	9757	KMT2B	OMIM:619934
HP:0002719	Recurrent infections	2581	GALC	ORPHA:206436
HP:0002719	Recurrent infections	5660	PSAP	ORPHA:206436
HP:0002719	Recurrent infections	83737	ITCH	ORPHA:228426
HP:0002719	Recurrent infections	9451	EIF2AK3	ORPHA:1667
HP:0002719	Recurrent infections	4204	MECP2	OMIM:300260
HP:0002719	Recurrent infections	118429	ANTXR2	OMIM:228600
HP:0002719	Recurrent infections	7456	WIPF1	OMIM:614493
HP:0002719	Recurrent infections	131669	UROC1	ORPHA:210128
HP:0002719	Recurrent infections	84823	LMNB2	OMIM:608709
HP:0002719	Recurrent infections	9652	SKIC3	ORPHA:84064
HP:0002719	Recurrent infections	6499	SKIC2	ORPHA:84064
HP:0002719	Recurrent infections	4689	NCF4	OMIM:613960
HP:0002719	Recurrent infections	3861	KRT14	ORPHA:79396
HP:0002719	Recurrent infections	11005	SPINK5	ORPHA:634
HP:0002719	Recurrent infections	5297	PI4KA	ORPHA:436252
HP:0002719	Recurrent infections	4914	NTRK1	ORPHA:642
HP:0002719	Recurrent infections	4688	NCF2	OMIM:233710
HP:0002719	Recurrent infections	1536	CYBB	OMIM:306400
HP:0002719	Recurrent infections	653361	NCF1	OMIM:233700
HP:0002719	Recurrent infections	1535	CYBA	OMIM:233690
HP:0002719	Recurrent infections	3594	IL12RB1	ORPHA:319552
HP:0002719	Recurrent infections	5896	RAG1	ORPHA:331206
HP:0002719	Recurrent infections	5897	RAG2	ORPHA:331206
HP:0002719	Recurrent infections	7454	WAS	OMIM:301000
HP:0002719	Recurrent infections	695	BTK	OMIM:300755
HP:0002719	Recurrent infections	1291	COL6A1	OMIM:254090
HP:0002719	Recurrent infections	1292	COL6A2	OMIM:254090
HP:0002719	Recurrent infections	1293	COL6A3	OMIM:254090
HP:0002719	Recurrent infections	10664	CTCF	ORPHA:363611
HP:0002719	Recurrent infections	29775	CARD10	OMIM:619632
HP:0002719	Recurrent infections	6340	SCNN1G	ORPHA:60033
HP:0002719	Recurrent infections	1080	CFTR	ORPHA:60033
HP:0002719	Recurrent infections	6337	SCNN1A	ORPHA:60033
HP:0002719	Recurrent infections	6338	SCNN1B	ORPHA:60033
HP:0002719	Recurrent infections	213	ALB	OMIM:616000
HP:0002719	Recurrent infections	213	ALB	ORPHA:86816
HP:0002719	Recurrent infections	4261	CIITA	OMIM:209920
HP:0002719	Recurrent infections	5994	RFXAP	OMIM:209920
HP:0002719	Recurrent infections	5993	RFX5	OMIM:209920
HP:0002719	Recurrent infections	8625	RFXANK	OMIM:209920
HP:0002719	Recurrent infections	6774	STAT3	OMIM:615952
HP:0002719	Recurrent infections	1305	COL13A1	OMIM:616720
HP:0002719	Recurrent infections	5295	PIK3R1	OMIM:616005
HP:0002719	Recurrent infections	4860	PNP	OMIM:613179
HP:0002719	Recurrent infections	79912	PYROXD1	OMIM:617258
HP:0002719	Recurrent infections	5580	PRKCD	OMIM:615559
HP:0002719	Recurrent infections	2622	GAS8	OMIM:616726
HP:0002719	Recurrent infections	5880	RAC2	OMIM:618986
HP:0002719	Recurrent infections	3932	LCK	OMIM:615758
HP:0002719	Recurrent infections	8021	NUP214	OMIM:618426
HP:0002719	Recurrent infections	54440	SASH3	OMIM:301082
HP:0002719	Recurrent infections	959	CD40LG	OMIM:308230
HP:0002719	Recurrent infections	79759	ZNF668	OMIM:620194
HP:0002719	Recurrent infections	114803	MYSM1	ORPHA:508542
HP:0002719	Recurrent infections	3575	IL7R	ORPHA:169154
HP:0002719	Recurrent infections	3718	JAK3	OMIM:600802
HP:0002719	Recurrent infections	57169	ZNFX1	OMIM:619644
HP:0002719	Recurrent infections	6809	STX3	OMIM:619446
HP:0002719	Recurrent infections	8481	OFD1	OMIM:300209
HP:0002719	Recurrent infections	1289	COL5A1	OMIM:130000
HP:0002719	Recurrent infections	11151	CORO1A	OMIM:615401
HP:0002719	Recurrent infections	8547	FCN3	OMIM:613860
HP:0002719	Recurrent infections	10525	HYOU1	OMIM:233600
HP:0002719	Recurrent infections	4780	NFE2L2	OMIM:617744
HP:0002719	Recurrent infections	472	ATM	OMIM:208900
HP:0002719	Recurrent infections	5591	PRKDC	OMIM:615966
HP:0002719	Recurrent infections	973	CD79A	OMIM:613501
HP:0002719	Recurrent infections	91869	RFT1	OMIM:612015
HP:0002719	Recurrent infections	64135	IFIH1	OMIM:615846
HP:0002719	Recurrent infections	8292	COLQ	ORPHA:98915
HP:0002719	Recurrent infections	3913	LAMB2	ORPHA:98915
HP:0002719	Recurrent infections	6662	SOX9	OMIM:114290
HP:0002719	Recurrent infections	10551	AGR2	OMIM:620233
HP:0002719	Recurrent infections	3908	LAMA2	ORPHA:258
HP:0002719	Recurrent infections	57609	DIP2B	OMIM:136630
HP:0002719	Recurrent infections	4718	NDUFC2	OMIM:619170
HP:0002719	Recurrent infections	3978	LIG1	OMIM:619774
HP:0002719	Recurrent infections	79989	IFT56	OMIM:619534
HP:0002719	Recurrent infections	2530	FUT8	OMIM:618005
HP:0002719	Recurrent infections	1493	CTLA4	OMIM:616100
HP:0002719	Recurrent infections	92579	G6PC3	OMIM:612541
HP:0002719	Recurrent infections	50628	GEMIN4	OMIM:617913
HP:0002719	Recurrent infections	5426	POLE	OMIM:615139
HP:0002719	Recurrent infections	92344	GORAB	OMIM:231070
HP:0002719	Recurrent infections	3514	IGKC	ORPHA:183675
HP:0002719	Recurrent infections	3501	IGHG2	ORPHA:183675
HP:0002719	Recurrent infections	1604	CD55	OMIM:226300
HP:0002719	Recurrent infections	7174	TPP2	OMIM:619220
HP:0002719	Recurrent infections	115399	LRRC56	OMIM:618254
HP:0002719	Recurrent infections	10892	MALT1	OMIM:615468
HP:0002719	Recurrent infections	4591	TRIM37	OMIM:253250
HP:0002719	Recurrent infections	2302	FOXJ1	OMIM:618699
HP:0002719	Recurrent infections	10125	RASGRP1	OMIM:618534
HP:0002719	Recurrent infections	7407	VARS1	OMIM:617802
HP:0002719	Recurrent infections	6304	SATB1	OMIM:619229
HP:0002719	Recurrent infections	9138	ARHGEF1	OMIM:618459
HP:0002719	Recurrent infections	83483	PLVAP	OMIM:618183
HP:0002719	Recurrent infections	6448	SGSH	OMIM:252900
HP:0002719	Recurrent infections	411	ARSB	OMIM:253200
HP:0002719	Recurrent infections	6813	STXBP2	OMIM:613101
HP:0002719	Recurrent infections	57465	TBC1D24	ORPHA:352596
HP:0002719	Recurrent infections	3952	LEP	ORPHA:66628
HP:0002719	Recurrent infections	3952	LEP	OMIM:614962
HP:0002719	Recurrent infections	427	ASAH1	ORPHA:333
HP:0002719	Recurrent infections	25839	COG4	ORPHA:263501
HP:0002719	Recurrent infections	4784	NFIX	OMIM:602535
HP:0002719	Recurrent infections	7852	CXCR4	OMIM:193670
HP:0002719	Recurrent infections	7852	CXCR4	ORPHA:51636
HP:0002719	Recurrent infections	6597	SMARCA4	ORPHA:1465
HP:0002719	Recurrent infections	6598	SMARCB1	ORPHA:1465
HP:0002719	Recurrent infections	6659	SOX4	ORPHA:1465
HP:0002719	Recurrent infections	8289	ARID1A	ORPHA:1465
HP:0002719	Recurrent infections	6601	SMARCC2	ORPHA:1465
HP:0002719	Recurrent infections	6602	SMARCD1	ORPHA:1465
HP:0002719	Recurrent infections	57492	ARID1B	ORPHA:1465
HP:0002719	Recurrent infections	196528	ARID2	ORPHA:1465
HP:0002719	Recurrent infections	6605	SMARCE1	ORPHA:1465
HP:0002719	Recurrent infections	6664	SOX11	ORPHA:1465
HP:0002719	Recurrent infections	5631	PRPS1	ORPHA:1187
HP:0002719	Recurrent infections	5631	PRPS1	OMIM:301835
HP:0002719	Recurrent infections	3953	LEPR	OMIM:614963
HP:0002719	Recurrent infections	3953	LEPR	ORPHA:179494
HP:0002719	Recurrent infections	8456	FOXN1	OMIM:618806
HP:0002719	Recurrent infections	146206	CARMIL2	OMIM:618131
HP:0002719	Recurrent infections	2720	GLB1	OMIM:253010
HP:0002719	Recurrent infections	10043	TOM1	ORPHA:391487
HP:0002719	Recurrent infections	3852	KRT5	OMIM:619599
HP:0002719	Recurrent infections	2588	GALNS	OMIM:253000
HP:0002719	Recurrent infections	9841	ZBTB24	OMIM:614069
HP:0002719	Recurrent infections	51360	MBTPS2	OMIM:308205
HP:0002719	Recurrent infections	79803	HPS6	OMIM:614075
HP:0002719	Recurrent infections	5340	PLG	OMIM:217090
HP:0002719	Recurrent infections	51341	ZBTB7A	OMIM:619769
HP:0002719	Recurrent infections	8242	KDM5C	OMIM:300534
HP:0002719	Recurrent infections	23247	KATNIP	OMIM:616784
HP:0002719	Recurrent infections	138050	HGSNAT	OMIM:252930
HP:0002719	Recurrent infections	7388	UQCRH	OMIM:620137
HP:0002719	Recurrent infections	4669	NAGLU	OMIM:252920
HP:0002719	Recurrent infections	54808	DYM	ORPHA:239
HP:0002719	Recurrent infections	3588	IL10RB	OMIM:612567
HP:0002719	Recurrent infections	8742	TNFSF12	ORPHA:1572
HP:0002719	Recurrent infections	359948	IRF2BP2	ORPHA:1572
HP:0002719	Recurrent infections	6901	TAFAZZIN	OMIM:302060
HP:0002719	Recurrent infections	4173	MCM4	OMIM:609981
HP:0002719	Recurrent infections	253959	RALGAPA1	OMIM:618797
HP:0002719	Recurrent infections	3716	JAK1	OMIM:618999
HP:0002719	Recurrent infections	1503	CTPS1	OMIM:615897
HP:0002719	Recurrent infections	2313	FLI1	OMIM:617443
HP:0002719	Recurrent infections	4792	NFKBIA	OMIM:612132
HP:0002719	Recurrent infections	8518	ELP1	OMIM:223900
HP:0002719	Recurrent infections	57731	SPTBN4	OMIM:617519
HP:0002719	Recurrent infections	3459	IFNGR1	OMIM:600263
HP:0002719	Recurrent infections	2321	FLT1	ORPHA:275555
HP:0002719	Recurrent infections	219736	STOX1	ORPHA:275555
HP:0002719	Recurrent infections	10699	CORIN	ORPHA:275555
HP:0002719	Recurrent infections	4791	NFKB2	OMIM:615577
HP:0002719	Recurrent infections	30011	SH3KBP1	OMIM:300310
HP:0002719	Recurrent infections	3561	IL2RG	ORPHA:276
HP:0002719	Recurrent infections	6804	STX1A	ORPHA:586
HP:0002719	Recurrent infections	2947	GSTM3	ORPHA:586
HP:0002719	Recurrent infections	7040	TGFB1	ORPHA:586
HP:0002719	Recurrent infections	2729	GCLC	ORPHA:586
HP:0002719	Recurrent infections	1084	CEACAM3	ORPHA:586
HP:0002719	Recurrent infections	6556	SLC11A1	ORPHA:586
HP:0002719	Recurrent infections	51164	DCTN4	ORPHA:586
HP:0002719	Recurrent infections	3783	KCNN4	ORPHA:586
HP:0002719	Recurrent infections	4282	MIF	ORPHA:586
HP:0002719	Recurrent infections	1909	EDNRA	ORPHA:586
HP:0002719	Recurrent infections	6550	SLC9A3	ORPHA:586
HP:0002719	Recurrent infections	3162	HMOX1	ORPHA:586
HP:0002719	Recurrent infections	115019	SLC26A9	ORPHA:586
HP:0002719	Recurrent infections	3077	HFE	ORPHA:586
HP:0002719	Recurrent infections	11254	SLC6A14	ORPHA:586
HP:0002719	Recurrent infections	5265	SERPINA1	ORPHA:586
HP:0002719	Recurrent infections	22802	CLCA4	ORPHA:586
HP:0002719	Recurrent infections	4680	CEACAM6	ORPHA:586
HP:0002719	Recurrent infections	3426	CFI	OMIM:610984
HP:0002719	Recurrent infections	6103	RPGR	OMIM:300455
HP:0002719	Recurrent infections	730	C7	OMIM:610102
HP:0002719	Recurrent infections	727	C5	OMIM:609536
HP:0002719	Recurrent infections	729	C6	OMIM:612446
HP:0002719	Recurrent infections	4153	MBL2	OMIM:614372
HP:0002719	Recurrent infections	629	CFB	OMIM:615561
HP:0002719	Recurrent infections	55651	NHP2	OMIM:613987
HP:0002719	Recurrent infections	55630	SLC39A4	OMIM:201100
HP:0002719	Recurrent infections	686	BTD	ORPHA:79241
HP:0002719	Recurrent infections	10804	GJB6	ORPHA:477
HP:0002719	Recurrent infections	2706	GJB2	ORPHA:477
HP:0002719	Recurrent infections	2706	GJB2	OMIM:148210
HP:0002719	Recurrent infections	4615	MYD88	ORPHA:183713
HP:0002719	Recurrent infections	1075	CTSC	OMIM:245010
HP:0002719	Recurrent infections	7535	ZAP70	ORPHA:911
HP:0002719	Recurrent infections	7390	UROS	ORPHA:79277
HP:0002719	Recurrent infections	2623	GATA1	ORPHA:79277
HP:0002719	Recurrent infections	2050	EPHB4	ORPHA:90186
HP:0002719	Recurrent infections	6868	ADAM17	ORPHA:294023
HP:0002719	Recurrent infections	1956	EGFR	ORPHA:294023
HP:0002719	Recurrent infections	7389	UROD	ORPHA:95159
HP:0002719	Recurrent infections	81704	DOCK8	ORPHA:217390
HP:0002719	Recurrent infections	3689	ITGB2	OMIM:116920
HP:0002719	Recurrent infections	25981	DNAH1	ORPHA:244
HP:0002719	Recurrent infections	115948	ODAD3	ORPHA:244
HP:0002719	Recurrent infections	54768	HYDIN	ORPHA:244
HP:0002719	Recurrent infections	352909	DNAAF3	ORPHA:244
HP:0002719	Recurrent infections	27148	STK36	ORPHA:244
HP:0002719	Recurrent infections	51314	NME8	ORPHA:244
HP:0002719	Recurrent infections	92749	DRC1	ORPHA:244
HP:0002719	Recurrent infections	54970	TTC12	ORPHA:244
HP:0002719	Recurrent infections	152110	NEK10	ORPHA:244
HP:0002719	Recurrent infections	221421	RSPH9	ORPHA:244
HP:0002719	Recurrent infections	85478	CCDC65	ORPHA:244
HP:0002719	Recurrent infections	55036	CCDC40	ORPHA:244
HP:0002719	Recurrent infections	51364	ZMYND10	ORPHA:244
HP:0002719	Recurrent infections	64446	DNAI2	ORPHA:244
HP:0002719	Recurrent infections	6674	SPAG1	ORPHA:244
HP:0002719	Recurrent infections	83544	DNAL1	ORPHA:244
HP:0002719	Recurrent infections	89765	RSPH1	ORPHA:244
HP:0002719	Recurrent infections	83538	ODAD4	ORPHA:244
HP:0002719	Recurrent infections	200373	CFAP221	ORPHA:244
HP:0002719	Recurrent infections	374407	DNAJB13	ORPHA:244
HP:0002719	Recurrent infections	55172	DNAAF2	ORPHA:244
HP:0002719	Recurrent infections	161582	DNAAF4	ORPHA:244
HP:0002719	Recurrent infections	23639	DNAAF11	ORPHA:244
HP:0002719	Recurrent infections	27019	DNAI1	ORPHA:244
HP:0002719	Recurrent infections	345895	RSPH4A	ORPHA:244
HP:0002719	Recurrent infections	54919	DNAAF5	ORPHA:244
HP:0002719	Recurrent infections	388389	CCDC103	ORPHA:244
HP:0002719	Recurrent infections	93233	ODAD1	ORPHA:244
HP:0002719	Recurrent infections	55130	ODAD2	ORPHA:244
HP:0002719	Recurrent infections	1767	DNAH5	ORPHA:244
HP:0002719	Recurrent infections	83861	RSPH3	ORPHA:244
HP:0002719	Recurrent infections	345643	MCIDAS	ORPHA:244
HP:0002719	Recurrent infections	56683	CFAP298	ORPHA:244
HP:0002719	Recurrent infections	79925	SPEF2	ORPHA:244
HP:0002719	Recurrent infections	10309	CCNO	ORPHA:244
HP:0002719	Recurrent infections	139212	DNAAF6	ORPHA:244
HP:0002719	Recurrent infections	123872	DNAAF1	ORPHA:244
HP:0002719	Recurrent infections	85016	CFAP300	ORPHA:244
HP:0002719	Recurrent infections	339829	CCDC39	ORPHA:244
HP:0002719	Recurrent infections	8701	DNAH11	ORPHA:244
HP:0002719	Recurrent infections	1770	DNAH9	ORPHA:244
HP:0002719	Recurrent infections	246176	GAS2L2	ORPHA:244
HP:0002719	Recurrent infections	10312	TCIRG1	ORPHA:486
HP:0002719	Recurrent infections	1991	ELANE	ORPHA:486
HP:0002719	Recurrent infections	2672	GFI1	ORPHA:486
HP:0002719	Recurrent infections	6729	SRP54	ORPHA:486
HP:0002719	Recurrent infections	81570	CLPB	ORPHA:486
HP:0002719	Recurrent infections	23495	TNFRSF13B	OMIM:609529
HP:0002719	Recurrent infections	7037	TFRC	OMIM:616740
HP:0002719	Recurrent infections	60468	BACH2	OMIM:618394
HP:0002719	Recurrent infections	23545	ATP6V0A2	ORPHA:2834
HP:0002719	Recurrent infections	4790	NFKB1	OMIM:616576
HP:0002719	Recurrent infections	841	CASP8	OMIM:607271
HP:0002719	Recurrent infections	5336	PLCG2	OMIM:614878
HP:0002719	Recurrent infections	5336	PLCG2	OMIM:614468
HP:0002719	Recurrent infections	5293	PIK3CD	OMIM:615513
HP:0002719	Recurrent infections	56259	CTNNBL1	OMIM:619846
HP:0002719	Recurrent infections	5294	PIK3CG	OMIM:619802
HP:0002719	Recurrent infections	4683	NBN	ORPHA:647
HP:0002719	Recurrent infections	2859	GPR35	ORPHA:171
HP:0002719	Recurrent infections	10507	SEMA4D	ORPHA:171
HP:0002719	Recurrent infections	4485	MST1	ORPHA:171
HP:0002719	Recurrent infections	6925	TCF4	ORPHA:171
HP:0002719	Recurrent infections	732	C8B	OMIM:613789
HP:0002719	Recurrent infections	3476	IGBP1	OMIM:300472
HP:0002719	Recurrent infections	4921	DDR2	OMIM:271665
HP:0002719	Recurrent infections	3763	KCNJ6	ORPHA:435628
HP:0002719	Recurrent infections	3763	KCNJ6	OMIM:614098
HP:0002719	Recurrent infections	5351	PLOD1	OMIM:225400
HP:0002719	Recurrent infections	5351	PLOD1	ORPHA:1900
HP:0002719	Recurrent infections	6477	SIAH1	OMIM:619314
HP:0002719	Recurrent infections	8425	LTBP4	OMIM:613177
HP:0002719	Recurrent infections	11133	KPTN	OMIM:615637
HP:0002719	Recurrent infections	11133	KPTN	ORPHA:397612
HP:0002719	Recurrent infections	57539	WDR35	OMIM:613610
HP:0002719	Recurrent infections	81857	MED25	OMIM:616449
HP:0002719	Recurrent infections	81857	MED25	ORPHA:464738
HP:0002719	Recurrent infections	755	CFAP410	OMIM:602271
HP:0002719	Recurrent infections	126792	B3GALT6	OMIM:609465
HP:0002719	Recurrent infections	6720	SREBF1	OMIM:158310
HP:0002719	Recurrent infections	1302	COL11A2	OMIM:215150
HP:0002719	Recurrent infections	10157	AASS	ORPHA:2203
HP:0002719	Recurrent infections	6440	SFTPC	OMIM:610913
HP:0002719	Recurrent infections	3417	IDH1	ORPHA:99646
HP:0002719	Recurrent infections	6904	TBCD	ORPHA:496641
HP:0002719	Recurrent infections	7084	TK2	ORPHA:254875
HP:0002719	Recurrent infections	8792	TNFRSF11A	OMIM:612301
HP:0002719	Recurrent infections	7080	NKX2-1	ORPHA:209905
HP:0002719	Recurrent infections	54681	P4HTM	OMIM:618493
HP:0002719	Recurrent infections	23594	ORC6	OMIM:613803
HP:0002719	Recurrent infections	26040	SETBP1	ORPHA:798
HP:0002719	Recurrent infections	2074	ERCC6	OMIM:214150
HP:0002719	Recurrent infections	2328	FMO3	OMIM:602079
HP:0002719	Recurrent infections	4796	TONSL	ORPHA:93357
HP:0002719	Recurrent infections	5317	PKP1	ORPHA:158668
HP:0002719	Recurrent infections	54941	RNF125	OMIM:616260
HP:0002719	Recurrent infections	10747	MASP2	OMIM:613791
HP:0002719	Recurrent infections	57728	WDR19	OMIM:614378
HP:0002719	Recurrent infections	871	SERPINH1	OMIM:613848
HP:0002719	Recurrent infections	55294	FBXW7	OMIM:620012
HP:0002719	Recurrent infections	165918	RNF168	ORPHA:420741
HP:0002719	Recurrent infections	5813	PURA	ORPHA:314655
HP:0002719	Recurrent infections	65082	VPS33A	OMIM:617303
HP:0002719	Recurrent infections	2212	FCGR2A	OMIM:219700
HP:0002719	Recurrent infections	28956	LAMTOR2	OMIM:610798
HP:0002719	Recurrent infections	28956	LAMTOR2	ORPHA:90023
HP:0002719	Recurrent infections	404672	GTF2H5	ORPHA:33364
HP:0002719	Recurrent infections	833	CARS1	ORPHA:33364
HP:0002719	Recurrent infections	2068	ERCC2	ORPHA:33364
HP:0002719	Recurrent infections	7737	RNF113A	ORPHA:33364
HP:0002719	Recurrent infections	136647	MPLKIP	ORPHA:33364
HP:0002719	Recurrent infections	6897	TARS1	ORPHA:33364
HP:0002719	Recurrent infections	2071	ERCC3	ORPHA:33364
HP:0002719	Recurrent infections	2961	GTF2E2	ORPHA:33364
HP:0002719	Recurrent infections	79650	USB1	OMIM:604173
HP:0002719	Recurrent infections	64170	CARD9	OMIM:212050
HP:0002719	Recurrent infections	84905	ZNF341	OMIM:618282
HP:0002719	Recurrent infections	915	CD3D	ORPHA:169160
HP:0002719	Recurrent infections	916	CD3E	ORPHA:169160
HP:0002719	Recurrent infections	919	CD247	ORPHA:169160
HP:0002719	Recurrent infections	64421	DCLRE1C	ORPHA:275
HP:0002719	Recurrent infections	3551	IKBKB	OMIM:615592
HP:0002719	Recurrent infections	6772	STAT1	OMIM:614162
HP:0002719	Recurrent infections	326	AIRE	OMIM:240300
HP:0002719	Recurrent infections	4598	MVK	OMIM:260920
HP:0002719	Recurrent infections	8546	AP3B1	OMIM:608233
HP:0002719	Recurrent infections	51311	TLR8	OMIM:301078
HP:0002719	Recurrent infections	9948	WDR1	OMIM:150550
HP:0002719	Recurrent infections	28755	TRAC	OMIM:615387
HP:0002719	Recurrent infections	1794	DOCK2	OMIM:616433
HP:0002719	Recurrent infections	917	CD3G	OMIM:615607
HP:0002719	Recurrent infections	3559	IL2RA	OMIM:606367
HP:0002719	Recurrent infections	85452	CFAP74	OMIM:620197
HP:0002719	Recurrent infections	1290	COL5A2	OMIM:130010
HP:0002719	Recurrent infections	10625	IVNS1ABP	OMIM:618969
HP:0002719	Recurrent infections	4194	MDM4	OMIM:618849
HP:0002719	Recurrent infections	6688	SPI1	OMIM:619707
HP:0002719	Recurrent infections	219972	MPEG1	OMIM:619223
HP:0002719	Recurrent infections	8737	RIPK1	OMIM:618852
HP:0002719	Recurrent infections	4644	MYO5A	OMIM:214450
HP:0002719	Recurrent infections	90268	OTULIN	OMIM:619986
HP:0002719	Recurrent infections	55851	PSENEN	OMIM:613736
HP:0002719	Recurrent infections	5663	PSEN1	OMIM:613737
HP:0002719	Recurrent infections	9636	ISG15	OMIM:616126
HP:0002719	Recurrent infections	7297	TYK2	OMIM:611521
HP:0002719	Recurrent infections	3460	IFNGR2	OMIM:614889
HP:0002719	Recurrent infections	2624	GATA2	OMIM:614172
HP:0002719	Recurrent infections	6097	RORC	OMIM:616622
HP:0002719	Recurrent infections	84196	USP48	ORPHA:96253
HP:0002719	Recurrent infections	7157	TP53	ORPHA:96253
HP:0002719	Recurrent infections	9101	USP8	ORPHA:96253
HP:0002719	Recurrent infections	64072	CDH23	ORPHA:96253
HP:0002719	Recurrent infections	2908	NR3C1	ORPHA:96253
HP:0002719	Recurrent infections	673	BRAF	ORPHA:96253
HP:0002719	Recurrent infections	65055	REEP1	OMIM:620011
HP:0002719	Recurrent infections	5339	PLEC	ORPHA:254361
HP:0002719	Recurrent infections	5832	ALDH18A1	ORPHA:90348
HP:0002719	Recurrent infections	6890	TAP1	OMIM:604571
HP:0002719	Recurrent infections	6891	TAP2	OMIM:604571
HP:0002719	Recurrent infections	6892	TAPBP	OMIM:604571
HP:0002719	Recurrent infections	2629	GBA1	OMIM:230900
HP:0002719	Recurrent infections	23534	TNPO3	ORPHA:186
HP:0002719	Recurrent infections	3592	IL12A	ORPHA:186
HP:0002719	Recurrent infections	6689	SPIB	ORPHA:186
HP:0002719	Recurrent infections	5450	POU2AF1	ORPHA:186
HP:0002719	Recurrent infections	9966	TNFSF15	ORPHA:186
HP:0002719	Recurrent infections	79258	MMEL1	ORPHA:186
HP:0002719	Recurrent infections	3663	IRF5	ORPHA:186
HP:0002719	Recurrent infections	121214	SDR9C7	OMIM:617574
HP:0002719	Recurrent infections	3848	KRT1	ORPHA:530838
HP:0002719	Recurrent infections	79415	CYBC1	OMIM:618935
HP:0002719	Recurrent infections	545	ATR	OMIM:614564
HP:0002719	Recurrent infections	3248	HPGD	ORPHA:217059
HP:0002719	Recurrent infections	7840	ALMS1	ORPHA:64
HP:0002719	Recurrent infections	5184	PEPD	ORPHA:742
HP:0002719	Recurrent infections	85358	SHANK3	ORPHA:48652
HP:0002719	Recurrent infections	1130	LYST	ORPHA:167
HP:0002719	Recurrent infections	51135	IRAK4	OMIM:607676
HP:0002719	Recurrent infections	10379	IRF9	OMIM:618648
HP:0002719	Recurrent infections	50943	FOXP3	ORPHA:37042
HP:0002719	Recurrent infections	3579	CXCR2	OMIM:619407
HP:0002719	Recurrent infections	2070	EYA4	ORPHA:217622
HP:0002719	Recurrent infections	23149	FCHO1	OMIM:619164
HP:0002719	Recurrent infections	26191	PTPN22	ORPHA:397
HP:0002719	Recurrent infections	3123	HLA-DRB1	ORPHA:397
HP:0002719	Recurrent infections	8974	P4HA2	ORPHA:397
HP:0002719	Recurrent infections	55315	SLC29A3	ORPHA:168569
HP:0002719	Recurrent infections	7132	TNFRSF1A	ORPHA:32960
HP:0002719	Recurrent infections	331	XIAP	OMIM:308240
HP:0002719	Recurrent infections	4068	SH2D1A	OMIM:308240
HP:0002719	Recurrent infections	79087	ALG12	ORPHA:79324
HP:0002719	Recurrent infections	2737	GLI3	ORPHA:672
HP:0002719	Recurrent infections	4247	MGAT2	ORPHA:79329
HP:0002719	Recurrent infections	8239	USP9X	ORPHA:480880
HP:0002719	Recurrent infections	57379	AICDA	OMIM:605258
HP:0002719	Recurrent infections	7374	UNG	OMIM:608106
HP:0002719	Recurrent infections	29969	MDFIC	OMIM:620014
HP:0002719	Recurrent infections	55777	MBD5	OMIM:156200
HP:0002719	Recurrent infections	1650	DDOST	ORPHA:300536
HP:0002719	Recurrent infections	1650	DDOST	OMIM:614507
HP:0002719	Recurrent infections	6711	SPTBN1	OMIM:619475
HP:0002719	Recurrent infections	4953	ODC1	ORPHA:544488
HP:0002719	Recurrent infections	7319	UBE2A	ORPHA:163956
HP:0002719	Recurrent infections	9338	TCEAL1	OMIM:301094
HP:0002719	Recurrent infections	3431	SP110	ORPHA:79124
HP:0002719	Recurrent infections	2273	FHL1	OMIM:300280
HP:0002720	Decreased circulating IgA level	3561	IL2RG	ORPHA:276
HP:0002720	Decreased circulating IgA level	3561	IL2RG	OMIM:300400
HP:0002720	Decreased circulating IgA level	1789	DNMT3B	OMIM:242860
HP:0002720	Decreased circulating IgA level	64421	DCLRE1C	ORPHA:275
HP:0002720	Decreased circulating IgA level	695	BTK	OMIM:300755
HP:0002720	Decreased circulating IgA level	10043	TOM1	OMIM:619510
HP:0002720	Decreased circulating IgA level	3572	IL6ST	OMIM:619752
HP:0002720	Decreased circulating IgA level	930	CD19	OMIM:613493
HP:0002720	Decreased circulating IgA level	930	CD19	OMIM:240500
HP:0002720	Decreased circulating IgA level	10526	IPO8	OMIM:619472
HP:0002720	Decreased circulating IgA level	51604	PIGT	ORPHA:369837
HP:0002720	Decreased circulating IgA level	5295	PIK3R1	OMIM:616005
HP:0002720	Decreased circulating IgA level	9841	ZBTB24	OMIM:614069
HP:0002720	Decreased circulating IgA level	3932	LCK	OMIM:615758
HP:0002720	Decreased circulating IgA level	6948	TCN2	OMIM:275350
HP:0002720	Decreased circulating IgA level	6948	TCN2	ORPHA:859
HP:0002720	Decreased circulating IgA level	987	LRBA	OMIM:614700
HP:0002720	Decreased circulating IgA level	54440	SASH3	OMIM:301082
HP:0002720	Decreased circulating IgA level	959	CD40LG	OMIM:308230
HP:0002720	Decreased circulating IgA level	1457	CSNK2A1	OMIM:617062
HP:0002720	Decreased circulating IgA level	57379	AICDA	OMIM:605258
HP:0002720	Decreased circulating IgA level	60468	BACH2	OMIM:618394
HP:0002720	Decreased circulating IgA level	84433	CARD11	OMIM:616452
HP:0002720	Decreased circulating IgA level	83737	ITCH	OMIM:613385
HP:0002720	Decreased circulating IgA level	974	CD79B	OMIM:612692
HP:0002720	Decreased circulating IgA level	5788	PTPRC	OMIM:619924
HP:0002720	Decreased circulating IgA level	4780	NFE2L2	OMIM:617744
HP:0002720	Decreased circulating IgA level	641	BLM	OMIM:210900
HP:0002720	Decreased circulating IgA level	641	BLM	ORPHA:125
HP:0002720	Decreased circulating IgA level	841	CASP8	OMIM:607271
HP:0002720	Decreased circulating IgA level	472	ATM	OMIM:208900
HP:0002720	Decreased circulating IgA level	3543	IGLL1	OMIM:613500
HP:0002720	Decreased circulating IgA level	5336	PLCG2	OMIM:614878
HP:0002720	Decreased circulating IgA level	29760	BLNK	OMIM:613502
HP:0002720	Decreased circulating IgA level	5294	PIK3CG	OMIM:619802
HP:0002720	Decreased circulating IgA level	7841	MOGS	ORPHA:79330
HP:0002720	Decreased circulating IgA level	7841	MOGS	OMIM:606056
HP:0002720	Decreased circulating IgA level	29851	ICOS	OMIM:607594
HP:0002720	Decreased circulating IgA level	29851	ICOS	OMIM:240500
HP:0002720	Decreased circulating IgA level	7298	TYMS	OMIM:620040
HP:0002720	Decreased circulating IgA level	23495	TNFRSF13B	OMIM:609529
HP:0002720	Decreased circulating IgA level	23495	TNFRSF13B	OMIM:240500
HP:0002720	Decreased circulating IgA level	84905	ZNF341	OMIM:618282
HP:0002720	Decreased circulating IgA level	5966	REL	OMIM:619652
HP:0002720	Decreased circulating IgA level	115650	TNFRSF13C	OMIM:240500
HP:0002720	Decreased circulating IgA level	1380	CR2	OMIM:240500
HP:0002720	Decreased circulating IgA level	1380	CR2	OMIM:614699
HP:0002720	Decreased circulating IgA level	3978	LIG1	OMIM:619774
HP:0002720	Decreased circulating IgA level	1493	CTLA4	OMIM:616100
HP:0002720	Decreased circulating IgA level	4791	NFKB2	OMIM:615577
HP:0002720	Decreased circulating IgA level	100	ADA	OMIM:102700
HP:0002720	Decreased circulating IgA level	5896	RAG1	ORPHA:331206
HP:0002720	Decreased circulating IgA level	5897	RAG2	ORPHA:331206
HP:0002720	Decreased circulating IgA level	8792	TNFRSF11A	OMIM:612301
HP:0002720	Decreased circulating IgA level	5557	PRIM1	OMIM:620005
HP:0002720	Decreased circulating IgA level	3117	HLA-DQA1	OMIM:212750
HP:0002720	Decreased circulating IgA level	3119	HLA-DQB1	OMIM:212750
HP:0002720	Decreased circulating IgA level	3514	IGKC	ORPHA:183675
HP:0002720	Decreased circulating IgA level	3501	IGHG2	ORPHA:183675
HP:0002720	Decreased circulating IgA level	79087	ALG12	OMIM:607143
HP:0002720	Decreased circulating IgA level	7374	UNG	OMIM:608106
HP:0002720	Decreased circulating IgA level	958	CD40	OMIM:606843
HP:0002720	Decreased circulating IgA level	2475	MTOR	ORPHA:457485
HP:0002720	Decreased circulating IgA level	2475	MTOR	OMIM:616638
HP:0002720	Decreased circulating IgA level	359948	IRF2BP2	OMIM:617765
HP:0002720	Decreased circulating IgA level	6688	SPI1	OMIM:619707
HP:0002720	Decreased circulating IgA level	6773	STAT2	OMIM:616636
HP:0002720	Decreased circulating IgA level	284119	CAVIN1	OMIM:613327
HP:0002720	Decreased circulating IgA level	6929	TCF3	OMIM:619824
HP:0002720	Decreased circulating IgA level	3559	IL2RA	OMIM:606367
HP:0002720	Decreased circulating IgA level	165918	RNF168	ORPHA:420741
HP:0002720	Decreased circulating IgA level	5373	PMM2	OMIM:212065
HP:0002720	Decreased circulating IgA level	6850	SYK	OMIM:619381
HP:0002720	Decreased circulating IgA level	10625	IVNS1ABP	OMIM:618969
HP:0002720	Decreased circulating IgA level	915	CD3D	ORPHA:169160
HP:0002720	Decreased circulating IgA level	916	CD3E	ORPHA:169160
HP:0002720	Decreased circulating IgA level	919	CD247	ORPHA:169160
HP:0002720	Decreased circulating IgA level	537	ATP6AP1	OMIM:300972
HP:0002720	Decreased circulating IgA level	5293	PIK3CD	ORPHA:221139
HP:0002720	Decreased circulating IgA level	90417	KNSTRN	ORPHA:221139
HP:0002720	Decreased circulating IgA level	3718	JAK3	ORPHA:35078
HP:0002721	Immunodeficiency	64170	CARD9	OMIM:212050
HP:0002721	Immunodeficiency	3551	IKBKB	OMIM:615592
HP:0002721	Immunodeficiency	55388	MCM10	OMIM:619313
HP:0002721	Immunodeficiency	7293	TNFRSF4	OMIM:615593
HP:0002721	Immunodeficiency	8517	IKBKG	OMIM:300636
HP:0002721	Immunodeficiency	8517	IKBKG	OMIM:300291
HP:0002721	Immunodeficiency	331	XIAP	OMIM:300635
HP:0002721	Immunodeficiency	331	XIAP	OMIM:308240
HP:0002721	Immunodeficiency	4688	NCF2	OMIM:233710
HP:0002721	Immunodeficiency	3932	LCK	OMIM:615758
HP:0002721	Immunodeficiency	118429	ANTXR2	ORPHA:2176
HP:0002721	Immunodeficiency	987	LRBA	OMIM:614700
HP:0002721	Immunodeficiency	79083	MLPH	OMIM:609227
HP:0002721	Immunodeficiency	9094	UNC119	OMIM:615518
HP:0002721	Immunodeficiency	959	CD40LG	OMIM:308230
HP:0002721	Immunodeficiency	113235	SLC46A1	ORPHA:90045
HP:0002721	Immunodeficiency	4125	MAN2B1	ORPHA:309282
HP:0002721	Immunodeficiency	4125	MAN2B1	ORPHA:309288
HP:0002721	Immunodeficiency	57379	AICDA	OMIM:605258
HP:0002721	Immunodeficiency	613	BCR	ORPHA:261330
HP:0002721	Immunodeficiency	1399	CRKL	ORPHA:261330
HP:0002721	Immunodeficiency	5594	MAPK1	ORPHA:261330
HP:0002721	Immunodeficiency	11151	CORO1A	OMIM:615401
HP:0002721	Immunodeficiency	10525	HYOU1	OMIM:233600
HP:0002721	Immunodeficiency	166378	AFG2A	OMIM:616577
HP:0002721	Immunodeficiency	998	CDC42	OMIM:616737
HP:0002721	Immunodeficiency	998	CDC42	ORPHA:487796
HP:0002721	Immunodeficiency	51135	IRAK4	OMIM:607676
HP:0002721	Immunodeficiency	51135	IRAK4	ORPHA:70592
HP:0002721	Immunodeficiency	4068	SH2D1A	OMIM:308240
HP:0002721	Immunodeficiency	79840	NHEJ1	ORPHA:169079
HP:0002721	Immunodeficiency	134218	DNAJC21	ORPHA:811
HP:0002721	Immunodeficiency	79631	EFL1	ORPHA:811
HP:0002721	Immunodeficiency	51119	SBDS	ORPHA:811
HP:0002721	Immunodeficiency	6729	SRP54	ORPHA:811
HP:0002721	Immunodeficiency	8029	CUBN	ORPHA:35858
HP:0002721	Immunodeficiency	81693	AMN	ORPHA:35858
HP:0002721	Immunodeficiency	84196	USP48	ORPHA:96253
HP:0002721	Immunodeficiency	7157	TP53	ORPHA:96253
HP:0002721	Immunodeficiency	9101	USP8	ORPHA:96253
HP:0002721	Immunodeficiency	64072	CDH23	ORPHA:96253
HP:0002721	Immunodeficiency	2908	NR3C1	ORPHA:96253
HP:0002721	Immunodeficiency	673	BRAF	ORPHA:96253
HP:0002721	Immunodeficiency	546	ATRX	ORPHA:96253
HP:0002721	Immunodeficiency	546	ATRX	ORPHA:231401
HP:0002721	Immunodeficiency	51360	MBTPS2	ORPHA:2273
HP:0002721	Immunodeficiency	6772	STAT1	OMIM:614162
HP:0002721	Immunodeficiency	6772	STAT1	ORPHA:391487
HP:0002721	Immunodeficiency	6772	STAT1	OMIM:614892
HP:0002721	Immunodeficiency	84061	MAGT1	OMIM:300853
HP:0002721	Immunodeficiency	7037	TFRC	OMIM:616740
HP:0002721	Immunodeficiency	1493	CTLA4	OMIM:616100
HP:0002721	Immunodeficiency	1493	CTLA4	ORPHA:3162
HP:0002721	Immunodeficiency	3394	IRF8	OMIM:226990
HP:0002721	Immunodeficiency	3394	IRF8	OMIM:614893
HP:0002721	Immunodeficiency	85358	SHANK3	ORPHA:48652
HP:0002721	Immunodeficiency	84876	ORAI1	OMIM:612782
HP:0002721	Immunodeficiency	1503	CTPS1	OMIM:615897
HP:0002721	Immunodeficiency	3665	IRF7	OMIM:616345
HP:0002721	Immunodeficiency	10616	RBCK1	OMIM:615895
HP:0002721	Immunodeficiency	6786	STIM1	OMIM:612783
HP:0002721	Immunodeficiency	6499	SKIC2	OMIM:614602
HP:0002721	Immunodeficiency	6499	SKIC2	ORPHA:84064
HP:0002721	Immunodeficiency	5426	POLE	OMIM:615139
HP:0002721	Immunodeficiency	5426	POLE	OMIM:618336
HP:0002721	Immunodeficiency	84823	LMNB2	ORPHA:79087
HP:0002721	Immunodeficiency	3431	SP110	OMIM:235550
HP:0002721	Immunodeficiency	1312	COMT	ORPHA:567
HP:0002721	Immunodeficiency	221037	JMJD1C	ORPHA:567
HP:0002721	Immunodeficiency	2812	GP1BB	ORPHA:567
HP:0002721	Immunodeficiency	6239	RREB1	ORPHA:567
HP:0002721	Immunodeficiency	6899	TBX1	ORPHA:567
HP:0002721	Immunodeficiency	7290	HIRA	ORPHA:567
HP:0002721	Immunodeficiency	9632	SEC24C	ORPHA:567
HP:0002721	Immunodeficiency	7353	UFD1	ORPHA:567
HP:0002721	Immunodeficiency	421	ARVCF	ORPHA:567
HP:0002721	Immunodeficiency	28956	LAMTOR2	ORPHA:90023
HP:0002721	Immunodeficiency	28956	LAMTOR2	OMIM:610798
HP:0002721	Immunodeficiency	1130	LYST	ORPHA:167
HP:0002721	Immunodeficiency	1130	LYST	ORPHA:352723
HP:0002721	Immunodeficiency	60	ACTB	ORPHA:79107
HP:0002721	Immunodeficiency	7374	UNG	OMIM:608106
HP:0002721	Immunodeficiency	958	CD40	OMIM:606843
HP:0002721	Immunodeficiency	1105	CHD1	OMIM:617682
HP:0002721	Immunodeficiency	1105	CHD1	ORPHA:529965
HP:0002721	Immunodeficiency	2624	GATA2	OMIM:614172
HP:0002721	Immunodeficiency	5631	PRPS1	OMIM:301835
HP:0002721	Immunodeficiency	3043	HBB	ORPHA:231249
HP:0002721	Immunodeficiency	3560	IL2RB	OMIM:618495
HP:0002721	Immunodeficiency	90268	OTULIN	OMIM:619986
HP:0002721	Immunodeficiency	8742	TNFSF12	ORPHA:1572
HP:0002721	Immunodeficiency	5580	PRKCD	ORPHA:1572
HP:0002721	Immunodeficiency	975	CD81	ORPHA:1572
HP:0002721	Immunodeficiency	653361	NCF1	OMIM:233700
HP:0002721	Immunodeficiency	53834	FGFRL1	OMIM:194190
HP:0002721	Immunodeficiency	1487	CTBP1	OMIM:194190
HP:0002721	Immunodeficiency	3954	LETM1	OMIM:194190
HP:0002721	Immunodeficiency	7468	NSD2	OMIM:194190
HP:0002721	Immunodeficiency	10815	CPLX1	OMIM:194190
HP:0002721	Immunodeficiency	2214	FCGR3A	OMIM:615707
HP:0002721	Immunodeficiency	5873	RAB27A	ORPHA:79477
HP:0002721	Immunodeficiency	8943	AP3D1	OMIM:617050
HP:0002721	Immunodeficiency	10043	TOM1	ORPHA:391487
HP:0002721	Immunodeficiency	57003	CCDC47	OMIM:618268
HP:0002721	Immunodeficiency	23126	POGZ	OMIM:616364
HP:0002721	Immunodeficiency	4609	MYC	OMIM:113970
HP:0002721	Immunodeficiency	9636	ISG15	OMIM:616126
HP:0002721	Immunodeficiency	5295	PIK3R1	OMIM:616005
HP:0002721	Immunodeficiency	5295	PIK3R1	ORPHA:33110
HP:0002721	Immunodeficiency	7454	WAS	ORPHA:906
HP:0002721	Immunodeficiency	7456	WIPF1	ORPHA:906
HP:0002721	Immunodeficiency	6789	STK4	OMIM:614868
HP:0002721	Immunodeficiency	56052	ALG1	ORPHA:79327
HP:0002721	Immunodeficiency	4615	MYD88	ORPHA:183713
HP:0002721	Immunodeficiency	8915	BCL10	OMIM:616098
HP:0002721	Immunodeficiency	374879	ZNF699	OMIM:619488
HP:0002721	Immunodeficiency	4780	NFE2L2	OMIM:617744
HP:0002721	Immunodeficiency	51816	ADA2	OMIM:615688
HP:0002721	Immunodeficiency	50615	IL21R	OMIM:615207
HP:0002721	Immunodeficiency	7297	TYK2	OMIM:611521
HP:0002721	Immunodeficiency	8450	CUL4B	ORPHA:85293
HP:0002721	Immunodeficiency	84433	CARD11	OMIM:615206
HP:0002721	Immunodeficiency	917	CD3G	OMIM:615607
HP:0002721	Immunodeficiency	695	BTK	ORPHA:47
HP:0002721	Immunodeficiency	5880	RAC2	ORPHA:183707
HP:0002721	Immunodeficiency	23387	SIK3	OMIM:618162
HP:0002721	Immunodeficiency	940	CD28	ORPHA:3162
HP:0002721	Immunodeficiency	7133	TNFRSF1B	ORPHA:3162
HP:0002721	Immunodeficiency	3937	LCP2	OMIM:619374
HP:0002721	Immunodeficiency	27040	LAT	OMIM:617514
HP:0002721	Immunodeficiency	919	CD247	OMIM:610163
HP:0002721	Immunodeficiency	10625	IVNS1ABP	OMIM:618969
HP:0002721	Immunodeficiency	916	CD3E	OMIM:615615
HP:0002721	Immunodeficiency	3459	IFNGR1	OMIM:615978
HP:0002721	Immunodeficiency	3460	IFNGR2	OMIM:614889
HP:0002721	Immunodeficiency	775	CACNA1C	OMIM:618447
HP:0002721	Immunodeficiency	1535	CYBA	OMIM:233690
HP:0002721	Immunodeficiency	3594	IL12RB1	ORPHA:319552
HP:0002721	Immunodeficiency	3594	IL12RB1	OMIM:614891
HP:0002721	Immunodeficiency	65057	ACD	ORPHA:3322
HP:0002721	Immunodeficiency	178	AGL	ORPHA:366
HP:0002721	Immunodeficiency	1536	CYBB	OMIM:306400
HP:0002721	Immunodeficiency	3593	IL12B	OMIM:614890
HP:0002721	Immunodeficiency	10892	MALT1	OMIM:615468
HP:0002721	Immunodeficiency	9652	SKIC3	ORPHA:84064
HP:0002721	Immunodeficiency	4212	MEIS2	ORPHA:261190
HP:0002721	Immunodeficiency	165918	RNF168	OMIM:611943
HP:0002721	Immunodeficiency	165918	RNF168	ORPHA:420741
HP:0002721	Immunodeficiency	64858	DCLRE1B	OMIM:620133
HP:0002721	Immunodeficiency	3559	IL2RA	OMIM:606367
HP:0002721	Immunodeficiency	4594	MMUT	ORPHA:79312
HP:0002721	Immunodeficiency	6929	TCF3	ORPHA:33110
HP:0002721	Immunodeficiency	973	CD79A	ORPHA:33110
HP:0002721	Immunodeficiency	974	CD79B	ORPHA:33110
HP:0002721	Immunodeficiency	3543	IGLL1	ORPHA:33110
HP:0002721	Immunodeficiency	3507	IGHM	ORPHA:33110
HP:0002721	Immunodeficiency	29760	BLNK	ORPHA:33110
HP:0002721	Immunodeficiency	56262	LRRC8A	ORPHA:33110
HP:0002721	Immunodeficiency	7187	TRAF3	ORPHA:1930
HP:0002721	Immunodeficiency	81622	UNC93B1	ORPHA:1930
HP:0002721	Immunodeficiency	148022	TICAM1	ORPHA:1930
HP:0002721	Immunodeficiency	7098	TLR3	ORPHA:1930
HP:0002721	Immunodeficiency	29110	TBK1	ORPHA:1930
HP:0002721	Immunodeficiency	2137	EXTL3	ORPHA:508533
HP:0002721	Immunodeficiency	2137	EXTL3	OMIM:617425
HP:0002721	Immunodeficiency	4860	PNP	ORPHA:760
HP:0002721	Immunodeficiency	4522	MTHFD1	OMIM:617780
HP:0002721	Immunodeficiency	3718	JAK3	OMIM:600802
HP:0002721	Immunodeficiency	57217	TTC7A	OMIM:243150
HP:0002721	Immunodeficiency	57217	TTC7A	ORPHA:436252
HP:0002721	Immunodeficiency	100	ADA	OMIM:102700
HP:0002721	Immunodeficiency	100	ADA	ORPHA:39041
HP:0002721	Immunodeficiency	64919	BCL11B	OMIM:617237
HP:0002721	Immunodeficiency	5591	PRKDC	OMIM:615966
HP:0002721	Immunodeficiency	5238	PGM3	ORPHA:443811
HP:0002721	Immunodeficiency	5297	PI4KA	ORPHA:436252
HP:0002721	Immunodeficiency	7518	XRCC4	ORPHA:99812
HP:0002721	Immunodeficiency	3981	LIG4	ORPHA:99812
HP:0002721	Immunodeficiency	3981	LIG4	ORPHA:39041
HP:0002721	Immunodeficiency	6023	RMRP	ORPHA:39041
HP:0002721	Immunodeficiency	55636	CHD7	ORPHA:39041
HP:0002721	Immunodeficiency	64421	DCLRE1C	ORPHA:39041
HP:0002721	Immunodeficiency	64421	DCLRE1C	OMIM:602450
HP:0002721	Immunodeficiency	3575	IL7R	ORPHA:39041
HP:0002721	Immunodeficiency	3575	IL7R	OMIM:608971
HP:0002721	Immunodeficiency	915	CD3D	OMIM:615617
HP:0002721	Immunodeficiency	50485	SMARCAL1	ORPHA:1830
HP:0002721	Immunodeficiency	80144	FRAS1	OMIM:219000
HP:0002721	Immunodeficiency	8456	FOXN1	OMIM:601705
HP:0002721	Immunodeficiency	1387	CREBBP	ORPHA:353277
HP:0002721	Immunodeficiency	1387	CREBBP	ORPHA:353281
HP:0002721	Immunodeficiency	2033	EP300	ORPHA:353284
HP:0002721	Immunodeficiency	472	ATM	ORPHA:100
HP:0002721	Immunodeficiency	10483	SEC23B	ORPHA:201
HP:0002721	Immunodeficiency	5728	PTEN	ORPHA:201
HP:0002721	Immunodeficiency	6390	SDHB	ORPHA:201
HP:0002721	Immunodeficiency	6392	SDHD	ORPHA:201
HP:0002721	Immunodeficiency	6391	SDHC	ORPHA:201
HP:0002721	Immunodeficiency	207	AKT1	ORPHA:201
HP:0002721	Immunodeficiency	205717	USF3	ORPHA:201
HP:0002721	Immunodeficiency	5290	PIK3CA	ORPHA:201
HP:0002721	Immunodeficiency	100144748	KLLN	ORPHA:201
HP:0002721	Immunodeficiency	80169	CTC1	ORPHA:1775
HP:0002721	Immunodeficiency	26277	TINF2	ORPHA:1775
HP:0002721	Immunodeficiency	55651	NHP2	ORPHA:1775
HP:0002721	Immunodeficiency	79650	USB1	ORPHA:1775
HP:0002721	Immunodeficiency	55135	WRAP53	ORPHA:1775
HP:0002721	Immunodeficiency	51750	RTEL1	ORPHA:1775
HP:0002721	Immunodeficiency	4869	NPM1	ORPHA:1775
HP:0002721	Immunodeficiency	7012	TERC	ORPHA:1775
HP:0002721	Immunodeficiency	55505	NOP10	ORPHA:1775
HP:0002721	Immunodeficiency	5073	PARN	ORPHA:1775
HP:0002721	Immunodeficiency	7015	TERT	ORPHA:1775
HP:0002721	Immunodeficiency	1736	DKC1	ORPHA:1775
HP:0002721	Immunodeficiency	7298	TYMS	ORPHA:1775
HP:0002721	Immunodeficiency	6905	TBCE	ORPHA:2323
HP:0002721	Immunodeficiency	3070	HELLS	ORPHA:2268
HP:0002721	Immunodeficiency	1789	DNMT3B	ORPHA:2268
HP:0002721	Immunodeficiency	83879	CDCA7	ORPHA:2268
HP:0002721	Immunodeficiency	9841	ZBTB24	ORPHA:2268
HP:0002721	Immunodeficiency	57724	EPG5	ORPHA:1493
HP:0002721	Immunodeficiency	4247	MGAT2	ORPHA:79329
HP:0002721	Immunodeficiency	54	ACP5	OMIM:607944
HP:0002721	Immunodeficiency	23495	TNFRSF13B	OMIM:240500
HP:0002721	Immunodeficiency	115650	TNFRSF13C	OMIM:240500
HP:0002721	Immunodeficiency	115650	TNFRSF13C	OMIM:613494
HP:0002721	Immunodeficiency	1380	CR2	OMIM:240500
HP:0002721	Immunodeficiency	29851	ICOS	OMIM:240500
HP:0002721	Immunodeficiency	930	CD19	OMIM:240500
HP:0002721	Immunodeficiency	930	CD19	OMIM:613493
HP:0002721	Immunodeficiency	931	MS4A1	OMIM:613495
HP:0002721	Immunodeficiency	204	AK2	OMIM:267500
HP:0002721	Immunodeficiency	4791	NFKB2	OMIM:615577
HP:0002721	Immunodeficiency	359948	IRF2BP2	OMIM:617765
HP:0002721	Immunodeficiency	4790	NFKB1	OMIM:616576
HP:0002721	Immunodeficiency	1794	DOCK2	OMIM:616433
HP:0002721	Immunodeficiency	10320	IKZF1	OMIM:616873
HP:0002721	Immunodeficiency	3561	IL2RG	OMIM:312863
HP:0002721	Immunodeficiency	5896	RAG1	OMIM:233650
HP:0002721	Immunodeficiency	5897	RAG2	OMIM:233650
HP:0002721	Immunodeficiency	5293	PIK3CD	ORPHA:221139
HP:0002721	Immunodeficiency	90417	KNSTRN	ORPHA:221139
HP:0002721	Immunodeficiency	701	BUB1B	OMIM:257300
HP:0002722	Recurrent abscess formation	8547	FCN3	OMIM:613860
HP:0002722	Recurrent abscess formation	6850	SYK	OMIM:619381
HP:0002722	Recurrent abscess formation	5297	PI4KA	ORPHA:436252
HP:0002722	Recurrent abscess formation	57217	TTC7A	ORPHA:436252
HP:0002722	Recurrent abscess formation	915	CD3D	ORPHA:169160
HP:0002722	Recurrent abscess formation	916	CD3E	ORPHA:169160
HP:0002722	Recurrent abscess formation	919	CD247	ORPHA:169160
HP:0002722	Recurrent abscess formation	1053	CEBPE	OMIM:260570
HP:0002722	Recurrent abscess formation	3431	SP110	ORPHA:79124
HP:0002722	Recurrent abscess formation	8546	AP3B1	OMIM:608233
HP:0002722	Recurrent abscess formation	695	BTK	ORPHA:47
HP:0002722	Recurrent abscess formation	10804	GJB6	ORPHA:477
HP:0002722	Recurrent abscess formation	2706	GJB2	ORPHA:477
HP:0002722	Recurrent abscess formation	146206	CARMIL2	OMIM:618131
HP:0002722	Recurrent abscess formation	3937	LCP2	OMIM:619374
HP:0002722	Recurrent abscess formation	7319	UBE2A	ORPHA:163956
HP:0002722	Recurrent abscess formation	55851	PSENEN	OMIM:613736
HP:0002722	Recurrent abscess formation	5663	PSEN1	OMIM:613737
HP:0002722	Recurrent abscess formation	1075	CTSC	ORPHA:678
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	4688	NCF2	OMIM:233710
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	1536	CYBB	OMIM:306400
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	653361	NCF1	OMIM:233700
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	1535	CYBA	OMIM:233690
HP:0002724	Recurrent Aspergillus infections	4688	NCF2	OMIM:233710
HP:0002724	Recurrent Aspergillus infections	6804	STX1A	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	2947	GSTM3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	7040	TGFB1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	2729	GCLC	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1084	CEACAM3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	6556	SLC11A1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	51164	DCTN4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3783	KCNN4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	4282	MIF	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1909	EDNRA	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	6550	SLC9A3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3162	HMOX1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	115019	SLC26A9	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3077	HFE	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	11254	SLC6A14	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	5265	SERPINA1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1080	CFTR	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	22802	CLCA4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	4680	CEACAM6	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1536	CYBB	OMIM:306400
HP:0002724	Recurrent Aspergillus infections	653361	NCF1	OMIM:233700
HP:0002724	Recurrent Aspergillus infections	6772	STAT1	ORPHA:391487
HP:0002724	Recurrent Aspergillus infections	10043	TOM1	ORPHA:391487
HP:0002724	Recurrent Aspergillus infections	1535	CYBA	OMIM:233690
HP:0002725	Systemic lupus erythematosus	355	FAS	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	356	FASLG	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	5580	PRKCD	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	843	CASP10	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	10125	RASGRP1	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	54	ACP5	OMIM:607944
HP:0002725	Systemic lupus erythematosus	54	ACP5	ORPHA:1855
HP:0002725	Systemic lupus erythematosus	6609	SMPD1	ORPHA:77293
HP:0002725	Systemic lupus erythematosus	720	C4A	OMIM:614380
HP:0002725	Systemic lupus erythematosus	731	C8A	OMIM:613790
HP:0002725	Systemic lupus erythematosus	8651	SOCS1	OMIM:619375
HP:0002725	Systemic lupus erythematosus	10747	MASP2	OMIM:613791
HP:0002725	Systemic lupus erythematosus	710	SERPING1	OMIM:120790
HP:0002725	Systemic lupus erythematosus	1776	DNASE1L3	OMIM:614420
HP:0002725	Systemic lupus erythematosus	712	C1QA	OMIM:613652
HP:0002725	Systemic lupus erythematosus	6775	STAT4	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	6696	SPP1	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	3654	IRAK1	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	718	C3	OMIM:613779
HP:0002725	Systemic lupus erythematosus	7174	TPP2	ORPHA:444463
HP:0002725	Systemic lupus erythematosus	3514	IGKC	ORPHA:183675
HP:0002725	Systemic lupus erythematosus	3501	IGHG2	ORPHA:183675
HP:0002725	Systemic lupus erythematosus	717	C2	OMIM:217000
HP:0002725	Systemic lupus erythematosus	51284	TLR7	OMIM:301080
HP:0002725	Systemic lupus erythematosus	4860	PNP	ORPHA:760
HP:0002725	Systemic lupus erythematosus	1080	CFTR	ORPHA:498359
HP:0002725	Systemic lupus erythematosus	51428	DDX41	OMIM:616871
HP:0002725	Systemic lupus erythematosus	716	C1S	OMIM:613783
HP:0002725	Systemic lupus erythematosus	2212	FCGR2A	OMIM:152700
HP:0002725	Systemic lupus erythematosus	2213	FCGR2B	OMIM:152700
HP:0002725	Systemic lupus erythematosus	26191	PTPN22	OMIM:152700
HP:0002725	Systemic lupus erythematosus	11277	TREX1	OMIM:152700
HP:0002725	Systemic lupus erythematosus	1493	CTLA4	OMIM:152700
HP:0002725	Systemic lupus erythematosus	1773	DNASE1	OMIM:152700
HP:0002725	Systemic lupus erythematosus	5184	PEPD	OMIM:170100
HP:0002725	Systemic lupus erythematosus	10501	SEMA6B	OMIM:618876
HP:0002726	Recurrent Staphylococcus aureus infections	4914	NTRK1	ORPHA:642
HP:0002726	Recurrent Staphylococcus aureus infections	6804	STX1A	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	2947	GSTM3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	7040	TGFB1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	2729	GCLC	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1084	CEACAM3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	6556	SLC11A1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	51164	DCTN4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3783	KCNN4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	4282	MIF	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1909	EDNRA	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	6550	SLC9A3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3162	HMOX1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	115019	SLC26A9	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3077	HFE	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	11254	SLC6A14	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	5265	SERPINA1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1080	CFTR	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	22802	CLCA4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	4680	CEACAM6	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1536	CYBB	OMIM:306400
HP:0002726	Recurrent Staphylococcus aureus infections	5994	RFXAP	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	4261	CIITA	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	5993	RFX5	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	8625	RFXANK	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	6774	STAT3	OMIM:147060
HP:0002726	Recurrent Staphylococcus aureus infections	8547	FCN3	OMIM:613860
HP:0002726	Recurrent Staphylococcus aureus infections	4688	NCF2	OMIM:233710
HP:0002726	Recurrent Staphylococcus aureus infections	653361	NCF1	OMIM:233700
HP:0002726	Recurrent Staphylococcus aureus infections	23765	IL17RA	OMIM:613953
HP:0002726	Recurrent Staphylococcus aureus infections	1535	CYBA	OMIM:233690
HP:0002726	Recurrent Staphylococcus aureus infections	5238	PGM3	OMIM:615816
HP:0011123	Inflammatory abnormality of the skin	8036	SHOC2	OMIM:607721
HP:0011123	Inflammatory abnormality of the skin	2235	FECH	OMIM:177000
HP:0011123	Inflammatory abnormality of the skin	2235	FECH	ORPHA:79278
HP:0011123	Inflammatory abnormality of the skin	26960	NBEA	OMIM:619157
HP:0011123	Inflammatory abnormality of the skin	6016	RIT1	OMIM:615355
HP:0011123	Inflammatory abnormality of the skin	6777	STAT5B	OMIM:618985
HP:0011123	Inflammatory abnormality of the skin	9759	HDAC4	ORPHA:1001
HP:0011123	Inflammatory abnormality of the skin	9759	HDAC4	OMIM:600430
HP:0011123	Inflammatory abnormality of the skin	57122	NUP107	OMIM:618348
HP:0011123	Inflammatory abnormality of the skin	100151683	RNU4ATAC	ORPHA:353298
HP:0011123	Inflammatory abnormality of the skin	100151683	RNU4ATAC	OMIM:616651
HP:0011123	Inflammatory abnormality of the skin	3119	HLA-DQB1	ORPHA:703
HP:0011123	Inflammatory abnormality of the skin	3119	HLA-DQB1	OMIM:212750
HP:0011123	Inflammatory abnormality of the skin	2767	GNA11	ORPHA:428
HP:0011123	Inflammatory abnormality of the skin	846	CASR	ORPHA:428
HP:0011123	Inflammatory abnormality of the skin	114803	MYSM1	ORPHA:508542
HP:0011123	Inflammatory abnormality of the skin	114803	MYSM1	OMIM:618116
HP:0011123	Inflammatory abnormality of the skin	4522	MTHFD1	OMIM:617780
HP:0011123	Inflammatory abnormality of the skin	3021	H3-3B	OMIM:619721
HP:0011123	Inflammatory abnormality of the skin	841	CASP8	OMIM:607271
HP:0011123	Inflammatory abnormality of the skin	79644	SRD5A3	OMIM:612379
HP:0011123	Inflammatory abnormality of the skin	5053	PAH	OMIM:261600
HP:0011123	Inflammatory abnormality of the skin	5053	PAH	ORPHA:79254
HP:0011123	Inflammatory abnormality of the skin	8626	TP63	OMIM:103285
HP:0011123	Inflammatory abnormality of the skin	134218	DNAJC21	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	134218	DNAJC21	OMIM:617052
HP:0011123	Inflammatory abnormality of the skin	79631	EFL1	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	51119	SBDS	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	16	AARS1	OMIM:619691
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:300299
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:301000
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	ORPHA:906
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:313900
HP:0011123	Inflammatory abnormality of the skin	1896	EDA	OMIM:305100
HP:0011123	Inflammatory abnormality of the skin	7780	SLC30A2	OMIM:608118
HP:0011123	Inflammatory abnormality of the skin	7941	PLA2G7	OMIM:147050
HP:0011123	Inflammatory abnormality of the skin	50615	IL21R	OMIM:147050
HP:0011123	Inflammatory abnormality of the skin	3566	IL4R	OMIM:147050
HP:0011123	Inflammatory abnormality of the skin	2206	MS4A2	OMIM:147050
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	ORPHA:363958
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	ORPHA:363965
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	OMIM:610443
HP:0011123	Inflammatory abnormality of the skin	6601	SMARCC2	OMIM:618362
HP:0011123	Inflammatory abnormality of the skin	54496	PRMT7	OMIM:617157
HP:0011123	Inflammatory abnormality of the skin	54496	PRMT7	ORPHA:464288
HP:0011123	Inflammatory abnormality of the skin	8260	NAA10	OMIM:300855
HP:0011123	Inflammatory abnormality of the skin	6774	STAT3	ORPHA:2314
HP:0011123	Inflammatory abnormality of the skin	6774	STAT3	OMIM:615952
HP:0011123	Inflammatory abnormality of the skin	816	CAMK2B	OMIM:617799
HP:0011123	Inflammatory abnormality of the skin	10616	RBCK1	OMIM:615895
HP:0011123	Inflammatory abnormality of the skin	3117	HLA-DQA1	OMIM:212750
HP:0011123	Inflammatory abnormality of the skin	6821	SUOX	OMIM:272300
HP:0011123	Inflammatory abnormality of the skin	5095	PCCA	OMIM:606054
HP:0011123	Inflammatory abnormality of the skin	5096	PCCB	OMIM:606054
HP:0011123	Inflammatory abnormality of the skin	1717	DHCR7	OMIM:270400
HP:0011123	Inflammatory abnormality of the skin	4478	MSN	OMIM:300988
HP:0011123	Inflammatory abnormality of the skin	26053	AUTS2	ORPHA:352490
HP:0011123	Inflammatory abnormality of the skin	51428	DDX41	OMIM:616871
HP:0011123	Inflammatory abnormality of the skin	2313	FLI1	OMIM:617443
HP:0011123	Inflammatory abnormality of the skin	2313	FLI1	ORPHA:2308
HP:0011123	Inflammatory abnormality of the skin	93627	TBCK	ORPHA:488632
HP:0011123	Inflammatory abnormality of the skin	1474	CST6	OMIM:618535
HP:0011123	Inflammatory abnormality of the skin	25942	SIN3A	OMIM:613406
HP:0011123	Inflammatory abnormality of the skin	3981	LIG4	ORPHA:235
HP:0011123	Inflammatory abnormality of the skin	54888	NSUN2	ORPHA:235
HP:0011123	Inflammatory abnormality of the skin	54888	NSUN2	OMIM:611091
HP:0011123	Inflammatory abnormality of the skin	10043	TOM1	ORPHA:391487
HP:0011123	Inflammatory abnormality of the skin	10043	TOM1	OMIM:619510
HP:0011123	Inflammatory abnormality of the skin	10526	IPO8	OMIM:619472
HP:0011123	Inflammatory abnormality of the skin	54914	FOCAD	OMIM:619991
HP:0011123	Inflammatory abnormality of the skin	126695	KDF1	OMIM:617337
HP:0011123	Inflammatory abnormality of the skin	126695	KDF1	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	7456	WIPF1	ORPHA:906
HP:0011123	Inflammatory abnormality of the skin	7456	WIPF1	OMIM:614493
HP:0011123	Inflammatory abnormality of the skin	3575	IL7R	OMIM:608971
HP:0011123	Inflammatory abnormality of the skin	25914	RTTN	ORPHA:468631
HP:0011123	Inflammatory abnormality of the skin	55719	SLF2	OMIM:620184
HP:0011123	Inflammatory abnormality of the skin	79092	CARD14	ORPHA:2897
HP:0011123	Inflammatory abnormality of the skin	283209	PGM2L1	OMIM:620191
HP:0011123	Inflammatory abnormality of the skin	6595	SMARCA2	ORPHA:3051
HP:0011123	Inflammatory abnormality of the skin	6595	SMARCA2	OMIM:601358
HP:0011123	Inflammatory abnormality of the skin	6872	TAF1	OMIM:300966
HP:0011123	Inflammatory abnormality of the skin	23387	SIK3	OMIM:618162
HP:0011123	Inflammatory abnormality of the skin	3978	LIG1	OMIM:619774
HP:0011123	Inflammatory abnormality of the skin	5879	RAC1	OMIM:617751
HP:0011123	Inflammatory abnormality of the skin	5879	RAC1	ORPHA:500159
HP:0011123	Inflammatory abnormality of the skin	2678	GGT1	OMIM:231950
HP:0011123	Inflammatory abnormality of the skin	203190	LGI3	OMIM:620007
HP:0011123	Inflammatory abnormality of the skin	404672	GTF2H5	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	833	CARS1	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2068	ERCC2	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	7737	RNF113A	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	136647	MPLKIP	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	6897	TARS1	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2071	ERCC3	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2961	GTF2E2	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	9526	MPDU1	ORPHA:79323
HP:0011123	Inflammatory abnormality of the skin	9333	TGM5	ORPHA:263534
HP:0011123	Inflammatory abnormality of the skin	1475	CSTA	ORPHA:263534
HP:0011123	Inflammatory abnormality of the skin	55181	SMG8	OMIM:619268
HP:0011123	Inflammatory abnormality of the skin	56160	NSMCE3	OMIM:617241
HP:0011123	Inflammatory abnormality of the skin	5426	POLE	OMIM:618336
HP:0011123	Inflammatory abnormality of the skin	940	CD28	ORPHA:2584
HP:0011123	Inflammatory abnormality of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0011123	Inflammatory abnormality of the skin	7189	TRAF6	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	128178	EDARADD	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	10913	EDAR	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	2312	FLG	OMIM:146700
HP:0011123	Inflammatory abnormality of the skin	144811	LACC1	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	144811	LACC1	OMIM:618795
HP:0011123	Inflammatory abnormality of the skin	4282	MIF	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	3569	IL6	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	1776	DNASE1L3	ORPHA:36412
HP:0011123	Inflammatory abnormality of the skin	79650	USB1	OMIM:604173
HP:0011123	Inflammatory abnormality of the skin	58484	NLRC4	OMIM:616050
HP:0011123	Inflammatory abnormality of the skin	55788	LMBRD1	OMIM:277380
HP:0011123	Inflammatory abnormality of the skin	55788	LMBRD1	ORPHA:79284
HP:0011123	Inflammatory abnormality of the skin	5699	PSMB10	OMIM:619175
HP:0011123	Inflammatory abnormality of the skin	7128	TNFAIP3	OMIM:616744
HP:0011123	Inflammatory abnormality of the skin	10095	ARPC1B	OMIM:617718
HP:0011123	Inflammatory abnormality of the skin	7010	TEK	ORPHA:1059
HP:0011123	Inflammatory abnormality of the skin	23152	CIC	OMIM:617600
HP:0011123	Inflammatory abnormality of the skin	2697	GJA1	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	2531	KDSR	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	127534	GJB4	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	84701	COX4I2	OMIM:612714
HP:0011123	Inflammatory abnormality of the skin	54	ACP5	ORPHA:1855
HP:0011123	Inflammatory abnormality of the skin	4069	LYZ	OMIM:105200
HP:0011123	Inflammatory abnormality of the skin	2243	FGA	OMIM:105200
HP:0011123	Inflammatory abnormality of the skin	335	APOA1	OMIM:105200
HP:0011123	Inflammatory abnormality of the skin	567	B2M	OMIM:105200
HP:0011123	Inflammatory abnormality of the skin	3115	HLA-DPB1	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	5657	PRTN3	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	3113	HLA-DPA1	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	5971	RELB	OMIM:617585
HP:0011123	Inflammatory abnormality of the skin	5205	ATP8B1	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	8647	ABCB11	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	5244	ABCB4	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	9971	NR1H4	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	5788	PTPRC	OMIM:619924
HP:0011123	Inflammatory abnormality of the skin	2073	ERCC5	ORPHA:220295
HP:0011123	Inflammatory abnormality of the skin	2072	ERCC4	ORPHA:220295
HP:0011123	Inflammatory abnormality of the skin	55739	NAXD	OMIM:618321
HP:0011123	Inflammatory abnormality of the skin	5692	PSMB4	OMIM:617591
HP:0011123	Inflammatory abnormality of the skin	5698	PSMB9	OMIM:617591
HP:0011123	Inflammatory abnormality of the skin	3937	LCP2	OMIM:619374
HP:0011123	Inflammatory abnormality of the skin	6389	SDHA	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	6390	SDHB	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	6391	SDHC	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	5156	PDGFRA	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	340024	SLC6A19	ORPHA:2116
HP:0011123	Inflammatory abnormality of the skin	57393	CLTRN	ORPHA:2116
HP:0011123	Inflammatory abnormality of the skin	3458	IFNG	OMIM:618963
HP:0011123	Inflammatory abnormality of the skin	10892	MALT1	OMIM:615468
HP:0011123	Inflammatory abnormality of the skin	9181	ARHGEF2	OMIM:617523
HP:0011123	Inflammatory abnormality of the skin	204	AK2	ORPHA:33355
HP:0011123	Inflammatory abnormality of the skin	56916	SMARCAD1	ORPHA:1658
HP:0011123	Inflammatory abnormality of the skin	3909	LAMA3	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	3918	LAMC2	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	3914	LAMB3	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	3587	IL10RA	OMIM:613148
HP:0011123	Inflammatory abnormality of the skin	695	BTK	OMIM:300755
HP:0011123	Inflammatory abnormality of the skin	695	BTK	OMIM:307200
HP:0011123	Inflammatory abnormality of the skin	126410	CYP4F22	OMIM:604777
HP:0011123	Inflammatory abnormality of the skin	126410	CYP4F22	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	OMIM:242300
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:100976
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	ORPHA:312
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	OMIM:609165
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	OMIM:612281
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	6023	RMRP	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	55636	CHD7	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	5896	RAG1	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	5896	RAG1	OMIM:603554
HP:0011123	Inflammatory abnormality of the skin	5897	RAG2	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	5897	RAG2	OMIM:603554
HP:0011123	Inflammatory abnormality of the skin	100	ADA	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	1041	CDSN	OMIM:270300
HP:0011123	Inflammatory abnormality of the skin	10999	SLC27A4	OMIM:608649
HP:0011123	Inflammatory abnormality of the skin	162	AP1B1	OMIM:242150
HP:0011123	Inflammatory abnormality of the skin	2137	EXTL3	OMIM:617425
HP:0011123	Inflammatory abnormality of the skin	6785	ELOVL4	OMIM:133190
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:457
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	57609	DIP2B	OMIM:136630
HP:0011123	Inflammatory abnormality of the skin	4047	LSS	OMIM:618840
HP:0011123	Inflammatory abnormality of the skin	2707	GJB3	OMIM:133200
HP:0011123	Inflammatory abnormality of the skin	10682	EBP	OMIM:302960
HP:0011123	Inflammatory abnormality of the skin	10682	EBP	ORPHA:35173
HP:0011123	Inflammatory abnormality of the skin	204219	CERS3	OMIM:615023
HP:0011123	Inflammatory abnormality of the skin	204219	CERS3	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	285848	PNPLA1	OMIM:615024
HP:0011123	Inflammatory abnormality of the skin	285848	PNPLA1	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	242	ALOX12B	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	242	ALOX12B	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	59344	ALOXE3	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	59344	ALOXE3	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	151516	ASPRV1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	6820	SULT2B1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	643418	LIPN	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	121214	SDR9C7	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	2615	LRRC32	OMIM:619074
HP:0011123	Inflammatory abnormality of the skin	388698	FLG2	OMIM:618084
HP:0011123	Inflammatory abnormality of the skin	91754	NEK9	OMIM:614262
HP:0011123	Inflammatory abnormality of the skin	121391	KRT74	ORPHA:90368
HP:0011123	Inflammatory abnormality of the skin	84433	CARD11	OMIM:617638
HP:0011123	Inflammatory abnormality of the skin	22800	RRAS2	OMIM:618624
HP:0011123	Inflammatory abnormality of the skin	8456	FOXN1	OMIM:618806
HP:0011123	Inflammatory abnormality of the skin	10060	ABCC9	OMIM:619719
HP:0011123	Inflammatory abnormality of the skin	1080	CFTR	ORPHA:498359
HP:0011123	Inflammatory abnormality of the skin	10847	SRCAP	OMIM:136140
HP:0011123	Inflammatory abnormality of the skin	23102	TBC1D2B	ORPHA:397973
HP:0011123	Inflammatory abnormality of the skin	3313	HSPA9	OMIM:616854
HP:0011123	Inflammatory abnormality of the skin	22880	MORC2	ORPHA:466768
HP:0011123	Inflammatory abnormality of the skin	64135	IFIH1	OMIM:615846
HP:0011123	Inflammatory abnormality of the skin	2783	GNB2	OMIM:619503
HP:0011123	Inflammatory abnormality of the skin	3716	JAK1	OMIM:618999
HP:0011123	Inflammatory abnormality of the skin	5290	PIK3CA	ORPHA:276280
HP:0011123	Inflammatory abnormality of the skin	6578	SLCO2A1	OMIM:614441
HP:0011123	Inflammatory abnormality of the skin	6578	SLCO2A1	OMIM:167100
HP:0011123	Inflammatory abnormality of the skin	6578	SLCO2A1	ORPHA:2796
HP:0011123	Inflammatory abnormality of the skin	7922	SLC39A7	OMIM:619693
HP:0011123	Inflammatory abnormality of the skin	686	BTD	OMIM:253260
HP:0011123	Inflammatory abnormality of the skin	79755	ZNF750	OMIM:610227
HP:0011123	Inflammatory abnormality of the skin	64087	MCCC2	OMIM:210210
HP:0011123	Inflammatory abnormality of the skin	9939	RBM8A	OMIM:274000
HP:0011123	Inflammatory abnormality of the skin	3248	HPGD	OMIM:259100
HP:0011123	Inflammatory abnormality of the skin	3248	HPGD	ORPHA:2796
HP:0011123	Inflammatory abnormality of the skin	1312	COMT	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	221037	JMJD1C	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	2812	GP1BB	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6239	RREB1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6899	TBX1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6899	TBX1	OMIM:188400
HP:0011123	Inflammatory abnormality of the skin	7290	HIRA	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	9632	SEC24C	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	7353	UFD1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	421	ARVCF	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	11322	TMC6	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	3574	IL7	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	147138	TMC8	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	10519	CIB1	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	5277	PIGA	OMIM:300868
HP:0011123	Inflammatory abnormality of the skin	5277	PIGA	OMIM:301072
HP:0011123	Inflammatory abnormality of the skin	146206	CARMIL2	OMIM:618131
HP:0011123	Inflammatory abnormality of the skin	10758	TRAF3IP2	OMIM:615527
HP:0011123	Inflammatory abnormality of the skin	7086	TKT	ORPHA:488618
HP:0011123	Inflammatory abnormality of the skin	4210	MEFV	ORPHA:342
HP:0011123	Inflammatory abnormality of the skin	4210	MEFV	OMIM:249100
HP:0011123	Inflammatory abnormality of the skin	4210	MEFV	OMIM:134610
HP:0011123	Inflammatory abnormality of the skin	3832	KIF11	ORPHA:2526
HP:0011123	Inflammatory abnormality of the skin	9508	ADAMTS3	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	147372	CCBE1	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	147372	CCBE1	OMIM:235510
HP:0011123	Inflammatory abnormality of the skin	79633	FAT4	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	7132	TNFRSF1A	OMIM:142680
HP:0011123	Inflammatory abnormality of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0011123	Inflammatory abnormality of the skin	2324	FLT4	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	57165	GJC2	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	374393	FAM111B	OMIM:615704
HP:0011123	Inflammatory abnormality of the skin	9563	H6PD	OMIM:604931
HP:0011123	Inflammatory abnormality of the skin	9051	PSTPIP1	OMIM:604416
HP:0011123	Inflammatory abnormality of the skin	9051	PSTPIP1	ORPHA:69126
HP:0011123	Inflammatory abnormality of the skin	5566	PRKACA	OMIM:615830
HP:0011123	Inflammatory abnormality of the skin	5566	PRKACA	ORPHA:189439
HP:0011123	Inflammatory abnormality of the skin	8622	PDE8B	ORPHA:189439
HP:0011123	Inflammatory abnormality of the skin	5573	PRKAR1A	ORPHA:189439
HP:0011123	Inflammatory abnormality of the skin	50940	PDE11A	ORPHA:189439
HP:0011123	Inflammatory abnormality of the skin	54361	WNT4	ORPHA:247768
HP:0011123	Inflammatory abnormality of the skin	54361	WNT4	OMIM:158330
HP:0011123	Inflammatory abnormality of the skin	285590	SH3PXD2B	ORPHA:137834
HP:0011123	Inflammatory abnormality of the skin	285590	SH3PXD2B	OMIM:249420
HP:0011123	Inflammatory abnormality of the skin	9060	PAPSS2	OMIM:612847
HP:0011123	Inflammatory abnormality of the skin	2908	NR3C1	ORPHA:786
HP:0011123	Inflammatory abnormality of the skin	2908	NR3C1	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	2099	ESR1	ORPHA:785
HP:0011123	Inflammatory abnormality of the skin	2099	ESR1	OMIM:615363
HP:0011123	Inflammatory abnormality of the skin	79798	ARMC5	ORPHA:189427
HP:0011123	Inflammatory abnormality of the skin	2778	GNAS	ORPHA:189427
HP:0011123	Inflammatory abnormality of the skin	1584	CYP11B1	ORPHA:90795
HP:0011123	Inflammatory abnormality of the skin	1893	ECM1	ORPHA:530
HP:0011123	Inflammatory abnormality of the skin	9663	LPIN2	ORPHA:77297
HP:0011123	Inflammatory abnormality of the skin	84196	USP48	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	7157	TP53	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	9101	USP8	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	64072	CDH23	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	673	BRAF	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	546	ATRX	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	1201	CLN3	ORPHA:228346
HP:0011123	Inflammatory abnormality of the skin	3973	LHCGR	ORPHA:3000
HP:0011123	Inflammatory abnormality of the skin	83550	GPR101	ORPHA:963
HP:0011123	Inflammatory abnormality of the skin	9049	AIP	ORPHA:963
HP:0011123	Inflammatory abnormality of the skin	64131	XYLT1	ORPHA:370930
HP:0011123	Inflammatory abnormality of the skin	4212	MEIS2	ORPHA:261190
HP:0011123	Inflammatory abnormality of the skin	175	AGA	OMIM:208400
HP:0011123	Inflammatory abnormality of the skin	5167	ENPP1	ORPHA:758
HP:0011123	Inflammatory abnormality of the skin	368	ABCC6	ORPHA:758
HP:0011123	Inflammatory abnormality of the skin	367	AR	ORPHA:99429
HP:0011123	Inflammatory abnormality of the skin	2263	FGFR2	OMIM:101200
HP:0011123	Inflammatory abnormality of the skin	149233	IL23R	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3586	IL10	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	1230	CCR1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	355	FAS	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3592	IL12A	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3106	HLA-B	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	7099	TLR4	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3459	IFNGR1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	720	C4A	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	337867	UBAC2	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	51752	ERAP1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	8302	KLRC4	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3572	IL6ST	OMIM:619752
HP:0011123	Inflammatory abnormality of the skin	331	XIAP	OMIM:300635
HP:0011123	Inflammatory abnormality of the skin	59335	PRDM12	OMIM:616488
HP:0011123	Inflammatory abnormality of the skin	5238	PGM3	ORPHA:443811
HP:0011123	Inflammatory abnormality of the skin	83706	FERMT3	OMIM:612840
HP:0011123	Inflammatory abnormality of the skin	3570	IL6R	OMIM:618944
HP:0011123	Inflammatory abnormality of the skin	3426	CFI	OMIM:610984
HP:0011123	Inflammatory abnormality of the skin	54440	SASH3	OMIM:301082
HP:0011123	Inflammatory abnormality of the skin	3655	ITGA6	ORPHA:79403
HP:0011123	Inflammatory abnormality of the skin	3691	ITGB4	ORPHA:79403
HP:0011123	Inflammatory abnormality of the skin	113189	CHST14	OMIM:601776
HP:0011123	Inflammatory abnormality of the skin	113189	CHST14	ORPHA:2953
HP:0011123	Inflammatory abnormality of the skin	51360	MBTPS2	OMIM:308205
HP:0011123	Inflammatory abnormality of the skin	4312	MMP1	ORPHA:79408
HP:0011123	Inflammatory abnormality of the skin	1294	COL7A1	ORPHA:79408
HP:0011123	Inflammatory abnormality of the skin	1294	COL7A1	ORPHA:89842
HP:0011123	Inflammatory abnormality of the skin	27086	FOXP1	ORPHA:391372
HP:0011123	Inflammatory abnormality of the skin	10525	HYOU1	OMIM:233600
HP:0011123	Inflammatory abnormality of the skin	4780	NFE2L2	OMIM:617744
HP:0011123	Inflammatory abnormality of the skin	11005	SPINK5	OMIM:256500
HP:0011123	Inflammatory abnormality of the skin	4790	NFKB1	OMIM:616576
HP:0011123	Inflammatory abnormality of the skin	5294	PIK3CG	OMIM:619802
HP:0011123	Inflammatory abnormality of the skin	9837	GINS1	OMIM:617827
HP:0011123	Inflammatory abnormality of the skin	11128	POLR3A	ORPHA:3455
HP:0011123	Inflammatory abnormality of the skin	84905	ZNF341	OMIM:618282
HP:0011123	Inflammatory abnormality of the skin	5317	PKP1	ORPHA:158668
HP:0011123	Inflammatory abnormality of the skin	55612	FERMT1	ORPHA:2908
HP:0011123	Inflammatory abnormality of the skin	85358	SHANK3	ORPHA:48652
HP:0011123	Inflammatory abnormality of the skin	29940	DSE	ORPHA:2953
HP:0011123	Inflammatory abnormality of the skin	57591	MRTFA	OMIM:618847
HP:0011123	Inflammatory abnormality of the skin	50943	FOXP3	ORPHA:37042
HP:0011123	Inflammatory abnormality of the skin	2303	FOXC2	ORPHA:33001
HP:0011123	Inflammatory abnormality of the skin	10312	TCIRG1	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	2672	GFI1	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	6729	SRP54	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	81570	CLPB	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	3848	KRT1	ORPHA:79503
HP:0011123	Inflammatory abnormality of the skin	26258	BLOC1S6	OMIM:614171
HP:0011123	Inflammatory abnormality of the skin	4153	MBL2	OMIM:614372
HP:0011123	Inflammatory abnormality of the skin	1828	DSG1	OMIM:615508
HP:0011123	Inflammatory abnormality of the skin	3852	KRT5	ORPHA:79396
HP:0011123	Inflammatory abnormality of the skin	3861	KRT14	ORPHA:79396
HP:0011123	Inflammatory abnormality of the skin	8883	NAE1	OMIM:620210
HP:0011123	Inflammatory abnormality of the skin	6929	TCF3	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	973	CD79A	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	974	CD79B	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	3543	IGLL1	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	3507	IGHM	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	29760	BLNK	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	5295	PIK3R1	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	56262	LRRC8A	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	57724	EPG5	OMIM:242840
HP:0011123	Inflammatory abnormality of the skin	3689	ITGB2	OMIM:116920
HP:0011123	Inflammatory abnormality of the skin	5994	RFXAP	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	5994	RFXAP	OMIM:209920
HP:0011123	Inflammatory abnormality of the skin	4261	CIITA	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	4261	CIITA	OMIM:209920
HP:0011123	Inflammatory abnormality of the skin	5993	RFX5	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	5993	RFX5	OMIM:209920
HP:0011123	Inflammatory abnormality of the skin	8625	RFXANK	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	8625	RFXANK	OMIM:209920
HP:0011123	Inflammatory abnormality of the skin	84818	IL17RC	OMIM:616445
HP:0011123	Inflammatory abnormality of the skin	112744	IL17F	OMIM:613956
HP:0011123	Inflammatory abnormality of the skin	3431	SP110	ORPHA:79124
HP:0011123	Inflammatory abnormality of the skin	6720	SREBF1	OMIM:158310
HP:0011123	Inflammatory abnormality of the skin	4791	NFKB2	ORPHA:293978
HP:0011123	Inflammatory abnormality of the skin	4791	NFKB2	OMIM:615577
HP:0011123	Inflammatory abnormality of the skin	57217	TTC7A	OMIM:243150
HP:0011123	Inflammatory abnormality of the skin	57217	TTC7A	ORPHA:436252
HP:0011123	Inflammatory abnormality of the skin	8913	CACNA1G	ORPHA:458803
HP:0011123	Inflammatory abnormality of the skin	3107	HLA-C	OMIM:177900
HP:0011123	Inflammatory abnormality of the skin	2625	GATA3	ORPHA:2237
HP:0011123	Inflammatory abnormality of the skin	130340	AP1S3	OMIM:616106
HP:0011123	Inflammatory abnormality of the skin	64919	BCL11B	OMIM:617237
HP:0011123	Inflammatory abnormality of the skin	5297	PI4KA	ORPHA:436252
HP:0011123	Inflammatory abnormality of the skin	3514	IGKC	ORPHA:183675
HP:0011123	Inflammatory abnormality of the skin	3501	IGHG2	ORPHA:183675
HP:0011123	Inflammatory abnormality of the skin	359948	IRF2BP2	OMIM:617765
HP:0011123	Inflammatory abnormality of the skin	55315	SLC29A3	ORPHA:168569
HP:0011123	Inflammatory abnormality of the skin	6307	MSMO1	OMIM:616834
HP:0011123	Inflammatory abnormality of the skin	1130	LYST	ORPHA:167
HP:0011123	Inflammatory abnormality of the skin	1130	LYST	OMIM:214500
HP:0011123	Inflammatory abnormality of the skin	3561	IL2RG	ORPHA:276
HP:0011123	Inflammatory abnormality of the skin	10804	GJB6	ORPHA:477
HP:0011123	Inflammatory abnormality of the skin	2706	GJB2	ORPHA:477
HP:0011123	Inflammatory abnormality of the skin	2706	GJB2	OMIM:148210
HP:0011123	Inflammatory abnormality of the skin	1536	CYBB	OMIM:306400
HP:0011123	Inflammatory abnormality of the skin	4615	MYD88	ORPHA:183713
HP:0011123	Inflammatory abnormality of the skin	1075	CTSC	OMIM:245010
HP:0011123	Inflammatory abnormality of the skin	4688	NCF2	OMIM:233710
HP:0011123	Inflammatory abnormality of the skin	653361	NCF1	OMIM:233700
HP:0011123	Inflammatory abnormality of the skin	1535	CYBA	OMIM:233690
HP:0011123	Inflammatory abnormality of the skin	7535	ZAP70	ORPHA:911
HP:0011123	Inflammatory abnormality of the skin	7390	UROS	ORPHA:79277
HP:0011123	Inflammatory abnormality of the skin	2623	GATA1	ORPHA:79277
HP:0011123	Inflammatory abnormality of the skin	2050	EPHB4	ORPHA:90186
HP:0011123	Inflammatory abnormality of the skin	6868	ADAM17	ORPHA:294023
HP:0011123	Inflammatory abnormality of the skin	1956	EGFR	ORPHA:294023
HP:0011123	Inflammatory abnormality of the skin	7389	UROD	ORPHA:95159
HP:0011123	Inflammatory abnormality of the skin	81704	DOCK8	ORPHA:217390
HP:0011123	Inflammatory abnormality of the skin	23592	LEMD3	ORPHA:166119
HP:0011123	Inflammatory abnormality of the skin	5184	PEPD	OMIM:170100
HP:0011123	Inflammatory abnormality of the skin	5184	PEPD	ORPHA:742
HP:0011123	Inflammatory abnormality of the skin	727	C5	OMIM:609536
HP:0011123	Inflammatory abnormality of the skin	64170	CARD9	OMIM:212050
HP:0011123	Inflammatory abnormality of the skin	915	CD3D	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	916	CD3E	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	919	CD247	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	64421	DCLRE1C	ORPHA:275
HP:0011123	Inflammatory abnormality of the skin	3551	IKBKB	OMIM:615592
HP:0011123	Inflammatory abnormality of the skin	6772	STAT1	OMIM:614162
HP:0011123	Inflammatory abnormality of the skin	326	AIRE	OMIM:240300
HP:0011123	Inflammatory abnormality of the skin	7037	TFRC	OMIM:616740
HP:0011123	Inflammatory abnormality of the skin	4598	MVK	OMIM:260920
HP:0011123	Inflammatory abnormality of the skin	3932	LCK	OMIM:615758
HP:0011123	Inflammatory abnormality of the skin	959	CD40LG	OMIM:308230
HP:0011123	Inflammatory abnormality of the skin	5293	PIK3CD	ORPHA:221139
HP:0011123	Inflammatory abnormality of the skin	90417	KNSTRN	ORPHA:221139
HP:0011123	Inflammatory abnormality of the skin	8546	AP3B1	OMIM:608233
HP:0011123	Inflammatory abnormality of the skin	51311	TLR8	OMIM:301078
HP:0011123	Inflammatory abnormality of the skin	9948	WDR1	OMIM:150550
HP:0011123	Inflammatory abnormality of the skin	28755	TRAC	OMIM:615387
HP:0011123	Inflammatory abnormality of the skin	11151	CORO1A	OMIM:615401
HP:0011123	Inflammatory abnormality of the skin	1794	DOCK2	OMIM:616433
HP:0011123	Inflammatory abnormality of the skin	917	CD3G	OMIM:615607
HP:0011123	Inflammatory abnormality of the skin	3559	IL2RA	OMIM:606367
HP:0011123	Inflammatory abnormality of the skin	3718	JAK3	ORPHA:35078
HP:0011123	Inflammatory abnormality of the skin	1777	DNASE2	OMIM:619858
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	OMIM:614415
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	OMIM:612952
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	100147744	RNU7-1	OMIM:619487
HP:0011123	Inflammatory abnormality of the skin	100147744	RNU7-1	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	10535	RNASEH2A	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	84153	RNASEH2C	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	84153	RNASEH2C	OMIM:610329
HP:0011123	Inflammatory abnormality of the skin	79621	RNASEH2B	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	103	ADAR	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	103	ADAR	OMIM:615010
HP:0011123	Inflammatory abnormality of the skin	134353	LSM11	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	2000	ELF4	OMIM:301074
HP:0011123	Inflammatory abnormality of the skin	7040	TGFB1	OMIM:618213
HP:0011123	Inflammatory abnormality of the skin	79415	CYBC1	OMIM:618935
HP:0011123	Inflammatory abnormality of the skin	92579	G6PC3	OMIM:612541
HP:0011123	Inflammatory abnormality of the skin	22806	IKZF3	OMIM:619437
HP:0011123	Inflammatory abnormality of the skin	3588	IL10RB	OMIM:612567
HP:0011123	Inflammatory abnormality of the skin	8737	RIPK1	OMIM:618108
HP:0011123	Inflammatory abnormality of the skin	3110	MNX1	OMIM:176450
HP:0011123	Inflammatory abnormality of the skin	1991	ELANE	ORPHA:2686
HP:0011123	Inflammatory abnormality of the skin	22845	DOLK	OMIM:610768
HP:0011123	Inflammatory abnormality of the skin	37	ACADVL	ORPHA:26793
HP:0011123	Inflammatory abnormality of the skin	57104	PNPLA2	ORPHA:565612
HP:0011123	Inflammatory abnormality of the skin	2683	B4GALT1	ORPHA:79332
HP:0011123	Inflammatory abnormality of the skin	4689	NCF4	OMIM:613960
HP:0011123	Inflammatory abnormality of the skin	3141	HLCS	ORPHA:79242
HP:0011123	Inflammatory abnormality of the skin	90268	OTULIN	OMIM:619986
HP:0011123	Inflammatory abnormality of the skin	55851	PSENEN	OMIM:613736
HP:0011123	Inflammatory abnormality of the skin	5663	PSEN1	OMIM:613737
HP:0011123	Inflammatory abnormality of the skin	6097	RORC	OMIM:616622
HP:0011123	Inflammatory abnormality of the skin	64581	CLEC7A	OMIM:613108
HP:0011123	Inflammatory abnormality of the skin	64127	NOD2	OMIM:186580
HP:0011123	Inflammatory abnormality of the skin	64127	NOD2	ORPHA:90340
HP:0011123	Inflammatory abnormality of the skin	3930	LBR	OMIM:613471
HP:0011123	Inflammatory abnormality of the skin	51816	ADA2	OMIM:615688
HP:0011123	Inflammatory abnormality of the skin	56244	BTNL2	OMIM:612387
HP:0011123	Inflammatory abnormality of the skin	56244	BTNL2	ORPHA:797
HP:0011123	Inflammatory abnormality of the skin	91662	NLRP12	OMIM:611762
HP:0011123	Inflammatory abnormality of the skin	987	LRBA	OMIM:614700
HP:0011123	Inflammatory abnormality of the skin	5696	PSMB8	OMIM:256040
HP:0011123	Inflammatory abnormality of the skin	3123	HLA-DRB1	ORPHA:797
HP:0011123	Inflammatory abnormality of the skin	10625	IVNS1ABP	OMIM:618969
HP:0011123	Inflammatory abnormality of the skin	3872	KRT17	OMIM:167210
HP:0011123	Inflammatory abnormality of the skin	7156	TOP3A	OMIM:618097
HP:0011123	Inflammatory abnormality of the skin	8558	CDK10	OMIM:617694
HP:0011123	Inflammatory abnormality of the skin	2212	FCGR2A	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	2213	FCGR2B	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	26191	PTPN22	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	11277	TREX1	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	1493	CTLA4	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	1773	DNASE1	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	641	BLM	OMIM:210900
HP:0011123	Inflammatory abnormality of the skin	843	CASP10	OMIM:603909
HP:0011123	Inflammatory abnormality of the skin	6775	STAT4	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	6696	SPP1	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	3654	IRAK1	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	51284	TLR7	OMIM:301080
HP:0011123	Inflammatory abnormality of the skin	3939	LDHA	ORPHA:284426
HP:0011123	Inflammatory abnormality of the skin	57152	SLURP1	ORPHA:87503
HP:0011123	Inflammatory abnormality of the skin	54795	TRPM4	OMIM:618531
HP:0011123	Inflammatory abnormality of the skin	7317	UBA1	OMIM:301054
HP:0011123	Inflammatory abnormality of the skin	51371	POMP	OMIM:618048
HP:0011123	Inflammatory abnormality of the skin	219972	MPEG1	OMIM:619223
HP:0011123	Inflammatory abnormality of the skin	6850	SYK	OMIM:619381
HP:0011123	Inflammatory abnormality of the skin	340061	STING1	OMIM:615934
HP:0011123	Inflammatory abnormality of the skin	23765	IL17RA	OMIM:613953
HP:0011123	Inflammatory abnormality of the skin	5950	RBP4	OMIM:615147
HP:0011123	Inflammatory abnormality of the skin	23385	NCSTN	OMIM:142690
HP:0011123	Inflammatory abnormality of the skin	56983	POGLUT1	ORPHA:79145
HP:0011123	Inflammatory abnormality of the skin	23509	POFUT1	ORPHA:79145
HP:0011123	Inflammatory abnormality of the skin	5551	PRF1	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	8676	STX11	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	201294	UNC13D	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	6813	STXBP2	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	171023	ASXL1	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	54790	TET2	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	867	CBL	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	861	RUNX1	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	6427	SRSF2	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	57169	ZNFX1	OMIM:619644
HP:0011123	Inflammatory abnormality of the skin	114548	NLRP3	OMIM:191900
HP:0011123	Inflammatory abnormality of the skin	8517	IKBKG	OMIM:308300
HP:0011123	Inflammatory abnormality of the skin	3815	KIT	ORPHA:79455
HP:0011123	Inflammatory abnormality of the skin	2038	EPB42	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6521	SLC4A1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6710	SPTB	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6708	SPTA1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	286	ANK1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	7319	UBE2A	ORPHA:163956
HP:0011123	Inflammatory abnormality of the skin	26525	IL36RN	OMIM:614204
HP:0011123	Inflammatory abnormality of the skin	55630	SLC39A4	ORPHA:37
HP:0011123	Inflammatory abnormality of the skin	6340	SCNN1G	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	6337	SCNN1A	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	6338	SCNN1B	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	1508	CTSB	ORPHA:50943
HP:0011123	Inflammatory abnormality of the skin	3557	IL1RN	OMIM:612852
HP:0002728	Chronic mucocutaneous candidiasis	57724	EPG5	OMIM:242840
HP:0002728	Chronic mucocutaneous candidiasis	3689	ITGB2	OMIM:116920
HP:0002728	Chronic mucocutaneous candidiasis	5994	RFXAP	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	5994	RFXAP	OMIM:209920
HP:0002728	Chronic mucocutaneous candidiasis	4261	CIITA	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	4261	CIITA	OMIM:209920
HP:0002728	Chronic mucocutaneous candidiasis	5993	RFX5	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	5993	RFX5	OMIM:209920
HP:0002728	Chronic mucocutaneous candidiasis	8625	RFXANK	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	8625	RFXANK	OMIM:209920
HP:0002728	Chronic mucocutaneous candidiasis	10043	TOM1	ORPHA:391487
HP:0002728	Chronic mucocutaneous candidiasis	3572	IL6ST	OMIM:619752
HP:0002728	Chronic mucocutaneous candidiasis	100	ADA	OMIM:102700
HP:0002728	Chronic mucocutaneous candidiasis	84818	IL17RC	OMIM:616445
HP:0002728	Chronic mucocutaneous candidiasis	5238	PGM3	OMIM:615816
HP:0002728	Chronic mucocutaneous candidiasis	112744	IL17F	OMIM:613956
HP:0002728	Chronic mucocutaneous candidiasis	3575	IL7R	OMIM:608971
HP:0002728	Chronic mucocutaneous candidiasis	3431	SP110	ORPHA:79124
HP:0002728	Chronic mucocutaneous candidiasis	6720	SREBF1	OMIM:158310
HP:0002728	Chronic mucocutaneous candidiasis	6774	STAT3	OMIM:147060
HP:0002728	Chronic mucocutaneous candidiasis	146206	CARMIL2	OMIM:618131
HP:0002728	Chronic mucocutaneous candidiasis	3561	IL2RG	ORPHA:276
HP:0002728	Chronic mucocutaneous candidiasis	3561	IL2RG	OMIM:300400
HP:0002728	Chronic mucocutaneous candidiasis	64170	CARD9	OMIM:212050
HP:0002728	Chronic mucocutaneous candidiasis	84905	ZNF341	OMIM:618282
HP:0002728	Chronic mucocutaneous candidiasis	915	CD3D	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	916	CD3E	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	919	CD247	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	64421	DCLRE1C	ORPHA:275
HP:0002728	Chronic mucocutaneous candidiasis	3551	IKBKB	OMIM:615592
HP:0002728	Chronic mucocutaneous candidiasis	6772	STAT1	OMIM:614162
HP:0002728	Chronic mucocutaneous candidiasis	326	AIRE	OMIM:240300
HP:0002728	Chronic mucocutaneous candidiasis	7037	TFRC	OMIM:616740
HP:0002728	Chronic mucocutaneous candidiasis	6097	RORC	OMIM:616622
HP:0002728	Chronic mucocutaneous candidiasis	4598	MVK	OMIM:260920
HP:0002728	Chronic mucocutaneous candidiasis	3932	LCK	OMIM:615758
HP:0002728	Chronic mucocutaneous candidiasis	23765	IL17RA	OMIM:613953
HP:0002728	Chronic mucocutaneous candidiasis	959	CD40LG	OMIM:308230
HP:0002728	Chronic mucocutaneous candidiasis	5293	PIK3CD	ORPHA:221139
HP:0002728	Chronic mucocutaneous candidiasis	90417	KNSTRN	ORPHA:221139
HP:0002728	Chronic mucocutaneous candidiasis	8546	AP3B1	OMIM:608233
HP:0002728	Chronic mucocutaneous candidiasis	51311	TLR8	OMIM:301078
HP:0002728	Chronic mucocutaneous candidiasis	9948	WDR1	OMIM:150550
HP:0002728	Chronic mucocutaneous candidiasis	28755	TRAC	OMIM:615387
HP:0002728	Chronic mucocutaneous candidiasis	11151	CORO1A	OMIM:615401
HP:0002728	Chronic mucocutaneous candidiasis	1794	DOCK2	OMIM:616433
HP:0002728	Chronic mucocutaneous candidiasis	10758	TRAF3IP2	OMIM:615527
HP:0002728	Chronic mucocutaneous candidiasis	917	CD3G	OMIM:615607
HP:0002728	Chronic mucocutaneous candidiasis	7535	ZAP70	ORPHA:911
HP:0002728	Chronic mucocutaneous candidiasis	3559	IL2RA	OMIM:606367
HP:0002728	Chronic mucocutaneous candidiasis	3718	JAK3	ORPHA:35078
HP:0002728	Chronic mucocutaneous candidiasis	64581	CLEC7A	OMIM:613108
HP:0002729	Follicular hyperplasia	6850	SYK	OMIM:619381
HP:0002729	Follicular hyperplasia	3845	KRAS	OMIM:614470
HP:0002729	Follicular hyperplasia	4893	NRAS	OMIM:614470
HP:0002729	Follicular hyperplasia	23495	TNFRSF13B	OMIM:240500
HP:0002729	Follicular hyperplasia	115650	TNFRSF13C	OMIM:240500
HP:0002729	Follicular hyperplasia	1380	CR2	OMIM:240500
HP:0002729	Follicular hyperplasia	29851	ICOS	OMIM:240500
HP:0002729	Follicular hyperplasia	930	CD19	OMIM:240500
HP:0002729	Follicular hyperplasia	54790	TET2	OMIM:619126
HP:0002729	Follicular hyperplasia	355	FAS	OMIM:601859
HP:0002729	Follicular hyperplasia	356	FASLG	OMIM:601859
HP:0002729	Follicular hyperplasia	843	CASP10	OMIM:603909
HP:0002729	Follicular hyperplasia	5580	PRKCD	OMIM:615559
HP:0002729	Follicular hyperplasia	340061	STING1	OMIM:615934
HP:0002729	Follicular hyperplasia	56259	CTNNBL1	OMIM:619846
HP:0002730	Chronic noninfectious lymphadenopathy	1616	DAXX	ORPHA:100075
HP:0002730	Chronic noninfectious lymphadenopathy	546	ATRX	ORPHA:100075
HP:0002730	Chronic noninfectious lymphadenopathy	355	FAS	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	355	FAS	OMIM:601859
HP:0002730	Chronic noninfectious lymphadenopathy	356	FASLG	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	356	FASLG	OMIM:601859
HP:0002730	Chronic noninfectious lymphadenopathy	5580	PRKCD	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	843	CASP10	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	843	CASP10	OMIM:603909
HP:0002730	Chronic noninfectious lymphadenopathy	10125	RASGRP1	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	6392	SDHD	ORPHA:100093
HP:0002730	Chronic noninfectious lymphadenopathy	2304	FOXE1	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	3026	HABP2	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	9562	MINPP1	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	19	ABCA1	ORPHA:31150
HP:0002731	Decreased lymphocyte apoptosis	843	CASP10	OMIM:603909
HP:0002731	Decreased lymphocyte apoptosis	3845	KRAS	OMIM:614470
HP:0002731	Decreased lymphocyte apoptosis	4893	NRAS	OMIM:614470
HP:0002731	Decreased lymphocyte apoptosis	355	FAS	OMIM:601859
HP:0002731	Decreased lymphocyte apoptosis	356	FASLG	OMIM:601859
HP:0002731	Decreased lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0002732	Lymph node hypoplasia	3561	IL2RG	ORPHA:276
HP:0002732	Lymph node hypoplasia	4860	PNP	OMIM:613179
HP:0002732	Lymph node hypoplasia	695	BTK	OMIM:300755
HP:0002732	Lymph node hypoplasia	2050	EPHB4	ORPHA:90186
HP:0002732	Lymph node hypoplasia	64421	DCLRE1C	OMIM:602450
HP:0002733	Abnormal lymph node morphology	64170	CARD9	OMIM:212050
HP:0002733	Abnormal lymph node morphology	171023	ASXL1	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	171023	ASXL1	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:824
HP:0002733	Abnormal lymph node morphology	54790	TET2	OMIM:619126
HP:0002733	Abnormal lymph node morphology	867	CBL	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	861	RUNX1	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	6427	SRSF2	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	6427	SRSF2	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	355	FAS	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	355	FAS	ORPHA:117
HP:0002733	Abnormal lymph node morphology	356	FASLG	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	843	CASP10	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	843	CASP10	OMIM:603909
HP:0002733	Abnormal lymph node morphology	90268	OTULIN	OMIM:617099
HP:0002733	Abnormal lymph node morphology	3071	NCKAP1L	OMIM:618982
HP:0002733	Abnormal lymph node morphology	144811	LACC1	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	4282	MIF	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	3569	IL6	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	OMIM:617772
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	OMIM:607115
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	ORPHA:1451
HP:0002733	Abnormal lymph node morphology	3815	KIT	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	3815	KIT	ORPHA:79455
HP:0002733	Abnormal lymph node morphology	987	LRBA	OMIM:614700
HP:0002733	Abnormal lymph node morphology	811	CALR	ORPHA:824
HP:0002733	Abnormal lymph node morphology	4352	MPL	ORPHA:824
HP:0002733	Abnormal lymph node morphology	3717	JAK2	ORPHA:824
HP:0002733	Abnormal lymph node morphology	7518	XRCC4	ORPHA:99812
HP:0002733	Abnormal lymph node morphology	3981	LIG4	ORPHA:99812
HP:0002733	Abnormal lymph node morphology	3981	LIG4	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	7174	TPP2	ORPHA:444463
HP:0002733	Abnormal lymph node morphology	7174	TPP2	OMIM:619220
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	3560	IL2RB	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3560	IL2RB	OMIM:618495
HP:0002733	Abnormal lymph node morphology	79722	ANKRD55	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	919	CD247	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3559	IL2RA	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3559	IL2RA	OMIM:606367
HP:0002733	Abnormal lymph node morphology	5771	PTPN2	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	939	CD27	OMIM:615122
HP:0002733	Abnormal lymph node morphology	23149	FCHO1	OMIM:619164
HP:0002733	Abnormal lymph node morphology	841	CASP8	OMIM:607271
HP:0002733	Abnormal lymph node morphology	56259	CTNNBL1	OMIM:619846
HP:0002733	Abnormal lymph node morphology	54	ACP5	OMIM:607944
HP:0002733	Abnormal lymph node morphology	6772	STAT1	OMIM:614162
HP:0002733	Abnormal lymph node morphology	23495	TNFRSF13B	OMIM:240500
HP:0002733	Abnormal lymph node morphology	23495	TNFRSF13B	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	115650	TNFRSF13C	OMIM:240500
HP:0002733	Abnormal lymph node morphology	115650	TNFRSF13C	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	1380	CR2	OMIM:240500
HP:0002733	Abnormal lymph node morphology	1380	CR2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	29851	ICOS	OMIM:240500
HP:0002733	Abnormal lymph node morphology	29851	ICOS	OMIM:607594
HP:0002733	Abnormal lymph node morphology	29851	ICOS	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	930	CD19	OMIM:240500
HP:0002733	Abnormal lymph node morphology	930	CD19	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	OMIM:616100
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	6786	STIM1	OMIM:612783
HP:0002733	Abnormal lymph node morphology	1130	LYST	ORPHA:167
HP:0002733	Abnormal lymph node morphology	1130	LYST	OMIM:214500
HP:0002733	Abnormal lymph node morphology	56984	PSMG2	OMIM:619183
HP:0002733	Abnormal lymph node morphology	7374	UNG	OMIM:608106
HP:0002733	Abnormal lymph node morphology	28755	TRAC	OMIM:615387
HP:0002733	Abnormal lymph node morphology	595	CCND1	ORPHA:52416
HP:0002733	Abnormal lymph node morphology	595	CCND1	ORPHA:29073
HP:0002733	Abnormal lymph node morphology	472	ATM	ORPHA:52416
HP:0002733	Abnormal lymph node morphology	3572	IL6ST	OMIM:619750
HP:0002733	Abnormal lymph node morphology	9508	ADAMTS3	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	147372	CCBE1	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	79633	FAT4	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	9636	ISG15	OMIM:616126
HP:0002733	Abnormal lymph node morphology	6049	RNF6	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	7048	TGFBR2	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	51741	WWOX	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	9940	DLEC1	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	6609	SMPD1	OMIM:257200
HP:0002733	Abnormal lymph node morphology	2624	GATA2	ORPHA:3226
HP:0002733	Abnormal lymph node morphology	64421	DCLRE1C	OMIM:603554
HP:0002733	Abnormal lymph node morphology	64421	DCLRE1C	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	4210	MEFV	ORPHA:342
HP:0002733	Abnormal lymph node morphology	4210	MEFV	ORPHA:117
HP:0002733	Abnormal lymph node morphology	5551	PRF1	OMIM:603553
HP:0002733	Abnormal lymph node morphology	5551	PRF1	ORPHA:540
HP:0002733	Abnormal lymph node morphology	3575	IL7R	ORPHA:169154
HP:0002733	Abnormal lymph node morphology	3575	IL7R	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	3575	IL7R	OMIM:608971
HP:0002733	Abnormal lymph node morphology	8676	STX11	OMIM:603552
HP:0002733	Abnormal lymph node morphology	8676	STX11	ORPHA:540
HP:0002733	Abnormal lymph node morphology	57169	ZNFX1	OMIM:619644
HP:0002733	Abnormal lymph node morphology	8314	BAP1	ORPHA:50251
HP:0002733	Abnormal lymph node morphology	5692	PSMB4	OMIM:617591
HP:0002733	Abnormal lymph node morphology	5698	PSMB9	OMIM:617591
HP:0002733	Abnormal lymph node morphology	8565	YARS1	OMIM:619418
HP:0002733	Abnormal lymph node morphology	50943	FOXP3	ORPHA:37042
HP:0002733	Abnormal lymph node morphology	50943	FOXP3	OMIM:304790
HP:0002733	Abnormal lymph node morphology	64127	NOD2	ORPHA:90340
HP:0002733	Abnormal lymph node morphology	51311	TLR8	OMIM:301078
HP:0002733	Abnormal lymph node morphology	940	CD28	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	940	CD28	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	7133	TNFRSF1B	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	7133	TNFRSF1B	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	149233	IL23R	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3586	IL10	ORPHA:117
HP:0002733	Abnormal lymph node morphology	1230	CCR1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3592	IL12A	ORPHA:117
HP:0002733	Abnormal lymph node morphology	101928376	IL12A-AS1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	7099	TLR4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	720	C4A	ORPHA:117
HP:0002733	Abnormal lymph node morphology	337867	UBAC2	ORPHA:117
HP:0002733	Abnormal lymph node morphology	51752	ERAP1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	8302	KLRC4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	5293	PIK3CD	OMIM:615513
HP:0002733	Abnormal lymph node morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002733	Abnormal lymph node morphology	100151683	RNU4ATAC	OMIM:616651
HP:0002733	Abnormal lymph node morphology	6696	SPP1	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	3654	IRAK1	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	1776	DNASE1L3	ORPHA:36412
HP:0002733	Abnormal lymph node morphology	4173	MCM4	OMIM:609981
HP:0002733	Abnormal lymph node morphology	10312	TCIRG1	ORPHA:667
HP:0002733	Abnormal lymph node morphology	1186	CLCN7	ORPHA:667
HP:0002733	Abnormal lymph node morphology	29887	SNX10	ORPHA:667
HP:0002733	Abnormal lymph node morphology	8600	TNFSF11	ORPHA:667
HP:0002733	Abnormal lymph node morphology	201294	UNC13D	ORPHA:540
HP:0002733	Abnormal lymph node morphology	6813	STXBP2	ORPHA:540
HP:0002733	Abnormal lymph node morphology	6813	STXBP2	OMIM:613101
HP:0002733	Abnormal lymph node morphology	57379	AICDA	OMIM:605258
HP:0002733	Abnormal lymph node morphology	9948	WDR1	OMIM:150550
HP:0002733	Abnormal lymph node morphology	7248	TSC1	ORPHA:538
HP:0002733	Abnormal lymph node morphology	7249	TSC2	ORPHA:538
HP:0002733	Abnormal lymph node morphology	9837	GINS1	OMIM:617827
HP:0002733	Abnormal lymph node morphology	5978	REST	ORPHA:654
HP:0002733	Abnormal lymph node morphology	129563	DIS3L2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	675	BRCA2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	675	BRCA2	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	9319	TRIP13	ORPHA:654
HP:0002733	Abnormal lymph node morphology	10155	TRIM28	ORPHA:654
HP:0002733	Abnormal lymph node morphology	11281	POU6F2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	2719	GPC3	ORPHA:654
HP:0002733	Abnormal lymph node morphology	283120	H19	ORPHA:654
HP:0002733	Abnormal lymph node morphology	331	XIAP	OMIM:308240
HP:0002733	Abnormal lymph node morphology	4068	SH2D1A	OMIM:308240
HP:0002733	Abnormal lymph node morphology	427	ASAH1	ORPHA:333
HP:0002733	Abnormal lymph node morphology	672	BRCA1	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	285282	RABL3	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	7157	TP53	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	3845	KRAS	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	1029	CDKN2A	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	79728	PALB2	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	4089	SMAD4	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	23022	PALLD	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	4790	NFKB1	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	4791	NFKB2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	8742	TNFSF12	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	931	MS4A1	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	975	CD81	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	359948	IRF2BP2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	359948	IRF2BP2	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5873	RAB27A	ORPHA:79477
HP:0002733	Abnormal lymph node morphology	970	CD70	OMIM:618261
HP:0002733	Abnormal lymph node morphology	3702	ITK	OMIM:613011
HP:0002733	Abnormal lymph node morphology	6023	RMRP	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	55636	CHD7	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	100	ADA	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	3561	IL2RG	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	51816	ADA2	OMIM:615688
HP:0002733	Abnormal lymph node morphology	3931	LCAT	ORPHA:79292
HP:0002733	Abnormal lymph node morphology	91662	NLRP12	OMIM:611762
HP:0002733	Abnormal lymph node morphology	51371	POMP	OMIM:618048
HP:0002733	Abnormal lymph node morphology	8651	SOCS1	OMIM:619375
HP:0002733	Abnormal lymph node morphology	27040	LAT	OMIM:617514
HP:0002733	Abnormal lymph node morphology	6850	SYK	OMIM:619381
HP:0002733	Abnormal lymph node morphology	6774	STAT3	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5371	PML	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5914	RARA	ORPHA:520
HP:0002733	Abnormal lymph node morphology	81608	FIP1L1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	4869	NPM1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5573	PRKAR1A	ORPHA:520
HP:0002733	Abnormal lymph node morphology	54880	BCOR	ORPHA:520
HP:0002733	Abnormal lymph node morphology	64859	NABP1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	6777	STAT5B	ORPHA:520
HP:0002733	Abnormal lymph node morphology	4926	NUMA1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	7704	ZBTB16	ORPHA:520
HP:0002733	Abnormal lymph node morphology	79718	TBL1XR1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	8737	RIPK1	OMIM:618852
HP:0002733	Abnormal lymph node morphology	9051	PSTPIP1	ORPHA:69126
HP:0002733	Abnormal lymph node morphology	5696	PSMB8	OMIM:256040
HP:0002733	Abnormal lymph node morphology	4893	NRAS	OMIM:614470
HP:0002733	Abnormal lymph node morphology	340061	STING1	OMIM:615934
HP:0002733	Abnormal lymph node morphology	1616	DAXX	ORPHA:100075
HP:0002733	Abnormal lymph node morphology	546	ATRX	ORPHA:100075
HP:0002733	Abnormal lymph node morphology	6392	SDHD	ORPHA:100093
HP:0002733	Abnormal lymph node morphology	19	ABCA1	ORPHA:31150
HP:0002733	Abnormal lymph node morphology	4860	PNP	OMIM:613179
HP:0002733	Abnormal lymph node morphology	695	BTK	OMIM:300755
HP:0002733	Abnormal lymph node morphology	2050	EPHB4	ORPHA:90186
HP:0002733	Abnormal lymph node morphology	4609	MYC	ORPHA:543
HP:0002733	Abnormal lymph node morphology	83706	FERMT3	OMIM:612840
HP:0002733	Abnormal lymph node morphology	2304	FOXE1	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	3026	HABP2	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	9562	MINPP1	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	1536	CYBB	OMIM:306400
HP:0002733	Abnormal lymph node morphology	7852	CXCR4	ORPHA:51636
HP:0002733	Abnormal lymph node morphology	4615	MYD88	OMIM:612260
HP:0002733	Abnormal lymph node morphology	4688	NCF2	OMIM:233710
HP:0002733	Abnormal lymph node morphology	79415	CYBC1	OMIM:618935
HP:0002733	Abnormal lymph node morphology	4598	MVK	OMIM:260920
HP:0002733	Abnormal lymph node morphology	3394	IRF8	OMIM:614893
HP:0002733	Abnormal lymph node morphology	5896	RAG1	ORPHA:331206
HP:0002733	Abnormal lymph node morphology	5897	RAG2	ORPHA:331206
HP:0002733	Abnormal lymph node morphology	10616	RBCK1	OMIM:615895
HP:0002733	Abnormal lymph node morphology	6773	STAT2	OMIM:618886
HP:0002733	Abnormal lymph node morphology	5880	RAC2	OMIM:618986
HP:0002733	Abnormal lymph node morphology	653361	NCF1	OMIM:233700
HP:0002733	Abnormal lymph node morphology	1535	CYBA	OMIM:233690
HP:0002733	Abnormal lymph node morphology	7535	ZAP70	ORPHA:911
HP:0002733	Abnormal lymph node morphology	3594	IL12RB1	ORPHA:319552
HP:0002733	Abnormal lymph node morphology	5788	PTPRC	OMIM:619924
HP:0002733	Abnormal lymph node morphology	958	CD40	OMIM:606843
HP:0002733	Abnormal lymph node morphology	3431	SP110	OMIM:235550
HP:0002733	Abnormal lymph node morphology	3431	SP110	ORPHA:79124
HP:0002733	Abnormal lymph node morphology	959	CD40LG	OMIM:308230
HP:0002733	Abnormal lymph node morphology	64135	IFIH1	OMIM:615846
HP:0002733	Abnormal lymph node morphology	4773	NFATC2	OMIM:620232
HP:0002733	Abnormal lymph node morphology	165918	RNF168	ORPHA:420741
HP:0002733	Abnormal lymph node morphology	3459	IFNGR1	OMIM:209950
HP:0002733	Abnormal lymph node morphology	55315	SLC29A3	OMIM:602782
HP:0002733	Abnormal lymph node morphology	3162	HMOX1	OMIM:614034
HP:0002733	Abnormal lymph node morphology	50619	DEF6	OMIM:619573
HP:0002733	Abnormal lymph node morphology	10125	RASGRP1	OMIM:618534
HP:0002733	Abnormal lymph node morphology	7132	TNFRSF1A	OMIM:142680
HP:0002733	Abnormal lymph node morphology	10095	ARPC1B	OMIM:617718
HP:0002733	Abnormal lymph node morphology	1991	ELANE	ORPHA:2686
HP:0002733	Abnormal lymph node morphology	6452	SH3BP2	OMIM:118400
HP:0002733	Abnormal lymph node morphology	3718	JAK3	OMIM:600802
HP:0002733	Abnormal lymph node morphology	26191	PTPN22	ORPHA:397
HP:0002733	Abnormal lymph node morphology	3106	HLA-B	ORPHA:397
HP:0002733	Abnormal lymph node morphology	3123	HLA-DRB1	ORPHA:397
HP:0002733	Abnormal lymph node morphology	3123	HLA-DRB1	OMIM:181000
HP:0002733	Abnormal lymph node morphology	3123	HLA-DRB1	ORPHA:545
HP:0002733	Abnormal lymph node morphology	8974	P4HA2	ORPHA:397
HP:0002733	Abnormal lymph node morphology	3115	HLA-DPB1	ORPHA:133
HP:0002733	Abnormal lymph node morphology	348	APOE	ORPHA:158029
HP:0002733	Abnormal lymph node morphology	330	BIRC3	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	10892	MALT1	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	27086	FOXP1	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	3492	IGH	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	3492	IGH	ORPHA:545
HP:0002733	Abnormal lymph node morphology	8915	BCL10	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	84061	MAGT1	OMIM:300853
HP:0002733	Abnormal lymph node morphology	7015	TERT	OMIM:614742
HP:0002733	Abnormal lymph node morphology	56244	BTNL2	OMIM:612387
HP:0002733	Abnormal lymph node morphology	5580	PRKCD	OMIM:615559
HP:0002733	Abnormal lymph node morphology	596	BCL2	ORPHA:545
HP:0002733	Abnormal lymph node morphology	604	BCL6	ORPHA:545
HP:0002733	Abnormal lymph node morphology	440275	EIF2AK4	ORPHA:199241
HP:0002733	Abnormal lymph node morphology	440275	EIF2AK4	OMIM:234810
HP:0002733	Abnormal lymph node morphology	2130	EWSR1	ORPHA:83469
HP:0002733	Abnormal lymph node morphology	7490	WT1	ORPHA:83469
HP:0002733	Abnormal lymph node morphology	5294	PIK3CG	OMIM:619802
HP:0002733	Abnormal lymph node morphology	3662	IRF4	ORPHA:3452
HP:0002733	Abnormal lymph node morphology	10551	AGR2	OMIM:620233
HP:0002733	Abnormal lymph node morphology	4689	NCF4	ORPHA:379
HP:0002843	Abnormal T cell morphology	973	CD79A	OMIM:613501
HP:0002843	Abnormal T cell morphology	3543	IGLL1	OMIM:613500
HP:0002843	Abnormal T cell morphology	29760	BLNK	OMIM:613502
HP:0002843	Abnormal T cell morphology	974	CD79B	OMIM:612692
HP:0002843	Abnormal T cell morphology	100	ADA	ORPHA:277
HP:0002843	Abnormal T cell morphology	1789	DNMT3B	OMIM:242860
HP:0002843	Abnormal T cell morphology	6772	STAT1	ORPHA:391487
HP:0002843	Abnormal T cell morphology	6909	TBX2	OMIM:618223
HP:0002843	Abnormal T cell morphology	55388	MCM10	OMIM:619313
HP:0002843	Abnormal T cell morphology	4683	NBN	OMIM:251260
HP:0002843	Abnormal T cell morphology	3574	IL7	OMIM:618309
HP:0002843	Abnormal T cell morphology	8737	RIPK1	OMIM:618108
HP:0002843	Abnormal T cell morphology	3718	JAK3	OMIM:600802
HP:0002843	Abnormal T cell morphology	3718	JAK3	ORPHA:35078
HP:0002843	Abnormal T cell morphology	23149	FCHO1	OMIM:619164
HP:0002843	Abnormal T cell morphology	5788	PTPRC	OMIM:619924
HP:0002843	Abnormal T cell morphology	5591	PRKDC	OMIM:615966
HP:0002843	Abnormal T cell morphology	79840	NHEJ1	ORPHA:169079
HP:0002843	Abnormal T cell morphology	54	ACP5	OMIM:607944
HP:0002843	Abnormal T cell morphology	4615	MYD88	OMIM:612260
HP:0002843	Abnormal T cell morphology	3431	SP110	ORPHA:79124
HP:0002843	Abnormal T cell morphology	1794	DOCK2	OMIM:616433
HP:0002843	Abnormal T cell morphology	2137	EXTL3	ORPHA:508533
HP:0002843	Abnormal T cell morphology	57724	EPG5	OMIM:242840
HP:0002843	Abnormal T cell morphology	7454	WAS	OMIM:301000
HP:0002843	Abnormal T cell morphology	84061	MAGT1	OMIM:300853
HP:0002843	Abnormal T cell morphology	10043	TOM1	OMIM:619510
HP:0002843	Abnormal T cell morphology	3702	ITK	OMIM:613011
HP:0002843	Abnormal T cell morphology	10625	IVNS1ABP	OMIM:618969
HP:0002843	Abnormal T cell morphology	3551	IKBKB	OMIM:618204
HP:0002843	Abnormal T cell morphology	3932	LCK	OMIM:615758
HP:0002843	Abnormal T cell morphology	54440	SASH3	OMIM:301082
HP:0002843	Abnormal T cell morphology	9094	UNC119	OMIM:615518
HP:0002843	Abnormal T cell morphology	4609	MYC	ORPHA:543
HP:0002843	Abnormal T cell morphology	3575	IL7R	ORPHA:169154
HP:0002843	Abnormal T cell morphology	81704	DOCK8	OMIM:243700
HP:0002843	Abnormal T cell morphology	56160	NSMCE3	OMIM:617241
HP:0002843	Abnormal T cell morphology	472	ATM	OMIM:208900
HP:0002843	Abnormal T cell morphology	3953	LEPR	ORPHA:179494
HP:0002843	Abnormal T cell morphology	3952	LEP	ORPHA:66628
HP:0002843	Abnormal T cell morphology	7456	WIPF1	OMIM:614493
HP:0002843	Abnormal T cell morphology	917	CD3G	OMIM:615607
HP:0002843	Abnormal T cell morphology	7535	ZAP70	OMIM:269840
HP:0002843	Abnormal T cell morphology	7535	ZAP70	ORPHA:911
HP:0002843	Abnormal T cell morphology	925	CD8A	OMIM:608957
HP:0002843	Abnormal T cell morphology	975	CD81	OMIM:613496
HP:0002843	Abnormal T cell morphology	59067	IL21	OMIM:615767
HP:0002843	Abnormal T cell morphology	695	BTK	OMIM:307200
HP:0002843	Abnormal T cell morphology	23495	TNFRSF13B	OMIM:240500
HP:0002843	Abnormal T cell morphology	115650	TNFRSF13C	OMIM:240500
HP:0002843	Abnormal T cell morphology	115650	TNFRSF13C	OMIM:613494
HP:0002843	Abnormal T cell morphology	1380	CR2	OMIM:240500
HP:0002843	Abnormal T cell morphology	29851	ICOS	OMIM:240500
HP:0002843	Abnormal T cell morphology	29851	ICOS	OMIM:607594
HP:0002843	Abnormal T cell morphology	930	CD19	OMIM:240500
HP:0002843	Abnormal T cell morphology	930	CD19	OMIM:613493
HP:0002843	Abnormal T cell morphology	51135	IRAK4	OMIM:607676
HP:0002843	Abnormal T cell morphology	331	XIAP	OMIM:308240
HP:0002843	Abnormal T cell morphology	4068	SH2D1A	OMIM:308240
HP:0002843	Abnormal T cell morphology	931	MS4A1	OMIM:613495
HP:0002843	Abnormal T cell morphology	84433	CARD11	OMIM:615206
HP:0002843	Abnormal T cell morphology	56259	CTNNBL1	OMIM:619846
HP:0002843	Abnormal T cell morphology	5294	PIK3CG	OMIM:619802
HP:0002843	Abnormal T cell morphology	5293	PIK3CD	ORPHA:221139
HP:0002843	Abnormal T cell morphology	90417	KNSTRN	ORPHA:221139
HP:0002843	Abnormal T cell morphology	3115	HLA-DPB1	ORPHA:133
HP:0002843	Abnormal T cell morphology	64170	CARD9	OMIM:212050
HP:0002843	Abnormal T cell morphology	355	FAS	ORPHA:3261
HP:0002843	Abnormal T cell morphology	356	FASLG	ORPHA:3261
HP:0002843	Abnormal T cell morphology	5580	PRKCD	ORPHA:3261
HP:0002843	Abnormal T cell morphology	843	CASP10	ORPHA:3261
HP:0002843	Abnormal T cell morphology	10125	RASGRP1	ORPHA:3261
HP:0002843	Abnormal T cell morphology	641	BLM	ORPHA:125
HP:0002843	Abnormal T cell morphology	5238	PGM3	ORPHA:443811
HP:0002843	Abnormal T cell morphology	5994	RFXAP	ORPHA:572
HP:0002843	Abnormal T cell morphology	4261	CIITA	ORPHA:572
HP:0002843	Abnormal T cell morphology	5993	RFX5	ORPHA:572
HP:0002843	Abnormal T cell morphology	8625	RFXANK	ORPHA:572
HP:0002843	Abnormal T cell morphology	9948	WDR1	OMIM:150550
HP:0002843	Abnormal T cell morphology	6850	SYK	OMIM:619381
HP:0002843	Abnormal T cell morphology	50943	FOXP3	ORPHA:37042
HP:0002843	Abnormal T cell morphology	399	RHOH	OMIM:618307
HP:0002843	Abnormal T cell morphology	3561	IL2RG	ORPHA:276
HP:0002843	Abnormal T cell morphology	64919	BCL11B	OMIM:617237
HP:0002843	Abnormal T cell morphology	64919	BCL11B	OMIM:618092
HP:0002843	Abnormal T cell morphology	5880	RAC2	OMIM:618986
HP:0002843	Abnormal T cell morphology	5880	RAC2	OMIM:618987
HP:0002843	Abnormal T cell morphology	5880	RAC2	OMIM:608203
HP:0002843	Abnormal T cell morphology	6117	RPA1	OMIM:619767
HP:0002843	Abnormal T cell morphology	79991	STN1	OMIM:617341
HP:0002843	Abnormal T cell morphology	8456	FOXN1	OMIM:618806
HP:0002843	Abnormal T cell morphology	64421	DCLRE1C	OMIM:602450
HP:0002843	Abnormal T cell morphology	3937	LCP2	OMIM:619374
HP:0002843	Abnormal T cell morphology	3071	NCKAP1L	OMIM:618982
HP:0002843	Abnormal T cell morphology	10159	ATP6AP2	OMIM:301045
HP:0002843	Abnormal T cell morphology	920	CD4	OMIM:619238
HP:0002843	Abnormal T cell morphology	90268	OTULIN	OMIM:617099
HP:0002843	Abnormal T cell morphology	51371	POMP	OMIM:618048
HP:0002843	Abnormal T cell morphology	2624	GATA2	OMIM:614038
HP:0002843	Abnormal T cell morphology	841	CASP8	OMIM:607271
HP:0002843	Abnormal T cell morphology	3559	IL2RA	OMIM:606367
HP:0002843	Abnormal T cell morphology	8546	AP3B1	OMIM:608233
HP:0002843	Abnormal T cell morphology	50619	DEF6	OMIM:619573
HP:0002843	Abnormal T cell morphology	3560	IL2RB	OMIM:618495
HP:0002843	Abnormal T cell morphology	4860	PNP	ORPHA:760
HP:0002843	Abnormal T cell morphology	5896	RAG1	ORPHA:331206
HP:0002843	Abnormal T cell morphology	5897	RAG2	ORPHA:331206
HP:0002843	Abnormal T cell morphology	916	CD3E	OMIM:615615
HP:0002843	Abnormal T cell morphology	916	CD3E	ORPHA:169160
HP:0002843	Abnormal T cell morphology	915	CD3D	ORPHA:169160
HP:0002843	Abnormal T cell morphology	919	CD247	ORPHA:169160
HP:0002843	Abnormal T cell morphology	56244	BTNL2	ORPHA:797
HP:0002843	Abnormal T cell morphology	3123	HLA-DRB1	ORPHA:797
HP:0002843	Abnormal T cell morphology	50485	SMARCAL1	ORPHA:1830
HP:0002843	Abnormal T cell morphology	5295	PIK3R1	OMIM:616005
HP:0002843	Abnormal T cell morphology	8915	BCL10	OMIM:616098
HP:0002843	Abnormal T cell morphology	6929	TCF3	OMIM:619824
HP:0002843	Abnormal T cell morphology	27040	LAT	OMIM:617514
HP:0002843	Abnormal T cell morphology	3978	LIG1	OMIM:619774
HP:0002843	Abnormal T cell morphology	1503	CTPS1	OMIM:615897
HP:0002737	Thick skull base	2316	FLNA	OMIM:311300
HP:0002737	Thick skull base	6522	SLC4A2	OMIM:620366
HP:0002737	Thick skull base	5745	PTH1R	OMIM:156400
HP:0002738	Hypoplastic frontal sinuses	4591	TRIM37	OMIM:253250
HP:0002738	Hypoplastic frontal sinuses	257	ALX3	OMIM:136760
HP:0002738	Hypoplastic frontal sinuses	257	ALX3	ORPHA:391474
HP:0002738	Hypoplastic frontal sinuses	175	AGA	OMIM:208400
HP:0002738	Hypoplastic frontal sinuses	1301	COL11A1	ORPHA:560
HP:0002738	Hypoplastic frontal sinuses	860	RUNX2	OMIM:119600
HP:0002738	Hypoplastic frontal sinuses	6424	SFRP4	OMIM:265900
HP:0002738	Hypoplastic frontal sinuses	2316	FLNA	ORPHA:90650
HP:0002738	Hypoplastic frontal sinuses	2316	FLNA	ORPHA:90652
HP:0009900	Unilateral deafness	57479	PRR12	OMIM:619539
HP:0009900	Unilateral deafness	2697	GJA1	ORPHA:1010
HP:0009900	Unilateral deafness	55901	THSD1	OMIM:620244
HP:0009901	Crumpled ear	9361	LONP1	OMIM:600373
HP:0009901	Crumpled ear	9361	LONP1	ORPHA:1458
HP:0009901	Crumpled ear	2201	FBN2	OMIM:121050
HP:0009901	Crumpled ear	2201	FBN2	ORPHA:115
HP:0009901	Crumpled ear	23184	MESD	OMIM:618644
HP:0009901	Crumpled ear	7291	TWIST1	OMIM:617746
HP:0009901	Crumpled ear	2200	FBN1	ORPHA:284979
HP:0009902	Cleft helix	1906	EDN1	ORPHA:137888
HP:0009902	Cleft helix	5332	PLCB4	ORPHA:137888
HP:0009902	Cleft helix	2773	GNAI3	ORPHA:137888
HP:0009904	Prominent ear helix	57178	ZMIZ1	OMIM:618659
HP:0009904	Prominent ear helix	4000	LMNA	ORPHA:740
HP:0009904	Prominent ear helix	10269	ZMPSTE24	ORPHA:740
HP:0009904	Prominent ear helix	2334	AFF2	ORPHA:100973
HP:0009904	Prominent ear helix	5831	PYCR1	OMIM:614438
HP:0009904	Prominent ear helix	85440	DOCK7	ORPHA:411986
HP:0009904	Prominent ear helix	91452	ACBD5	OMIM:618863
HP:0002740	Recurrent E. coli infections	4688	NCF2	OMIM:233710
HP:0002740	Recurrent E. coli infections	1536	CYBB	OMIM:306400
HP:0002740	Recurrent E. coli infections	653361	NCF1	OMIM:233700
HP:0002740	Recurrent E. coli infections	1535	CYBA	OMIM:233690
HP:0002741	Recurrent Serratia marcescens infections	4688	NCF2	OMIM:233710
HP:0002741	Recurrent Serratia marcescens infections	1536	CYBB	OMIM:306400
HP:0002741	Recurrent Serratia marcescens infections	653361	NCF1	OMIM:233700
HP:0002741	Recurrent Serratia marcescens infections	1535	CYBA	OMIM:233690
HP:0002742	Recurrent Klebsiella infections	4688	NCF2	OMIM:233710
HP:0002742	Recurrent Klebsiella infections	1536	CYBB	OMIM:306400
HP:0002742	Recurrent Klebsiella infections	653361	NCF1	OMIM:233700
HP:0002742	Recurrent Klebsiella infections	1535	CYBA	OMIM:233690
HP:0002742	Recurrent Klebsiella infections	3594	IL12RB1	ORPHA:319552
HP:0002742	Recurrent Klebsiella infections	4153	MBL2	OMIM:614372
HP:0002743	Recurrent enteroviral infections	3507	IGHM	OMIM:601495
HP:0002743	Recurrent enteroviral infections	5896	RAG1	ORPHA:331206
HP:0002743	Recurrent enteroviral infections	5897	RAG2	ORPHA:331206
HP:0002743	Recurrent enteroviral infections	3431	SP110	ORPHA:79124
HP:0002743	Recurrent enteroviral infections	695	BTK	OMIM:300755
HP:0002743	Recurrent enteroviral infections	695	BTK	OMIM:307200
HP:0002744	Bilateral cleft lip and palate	9968	MED12	OMIM:301068
HP:0002744	Bilateral cleft lip and palate	2736	GLI2	OMIM:610829
HP:0002744	Bilateral cleft lip and palate	10413	YAP1	ORPHA:1473
HP:0002744	Bilateral cleft lip and palate	1147	CHUK	OMIM:619339
HP:0002744	Bilateral cleft lip and palate	5818	NECTIN1	ORPHA:3253
HP:0002744	Bilateral cleft lip and palate	8405	SPOP	OMIM:618829
HP:0002744	Bilateral cleft lip and palate	6496	SIX3	OMIM:157170
HP:0002744	Bilateral cleft lip and palate	1500	CTNND1	ORPHA:1997
HP:0002744	Bilateral cleft lip and palate	999	CDH1	ORPHA:1997
HP:0002745	Oral leukoplakia	7298	TYMS	OMIM:620040
HP:0002745	Oral leukoplakia	7298	TYMS	ORPHA:1775
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:268130
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:613990
HP:0002745	Oral leukoplakia	26277	TINF2	ORPHA:3322
HP:0002745	Oral leukoplakia	26277	TINF2	ORPHA:1775
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:127550
HP:0002745	Oral leukoplakia	7157	TP53	OMIM:618165
HP:0002745	Oral leukoplakia	3851	KRT4	OMIM:193900
HP:0002745	Oral leukoplakia	55651	NHP2	OMIM:224230
HP:0002745	Oral leukoplakia	55651	NHP2	ORPHA:1775
HP:0002745	Oral leukoplakia	55651	NHP2	OMIM:613987
HP:0002745	Oral leukoplakia	55505	NOP10	OMIM:224230
HP:0002745	Oral leukoplakia	55505	NOP10	ORPHA:1775
HP:0002745	Oral leukoplakia	79651	RHBDF2	OMIM:148500
HP:0002745	Oral leukoplakia	286887	KRT6C	OMIM:615735
HP:0002745	Oral leukoplakia	3868	KRT16	OMIM:167200
HP:0002745	Oral leukoplakia	3868	KRT16	ORPHA:2309
HP:0002745	Oral leukoplakia	1736	DKC1	OMIM:305000
HP:0002745	Oral leukoplakia	1736	DKC1	ORPHA:3322
HP:0002745	Oral leukoplakia	1736	DKC1	ORPHA:1775
HP:0002745	Oral leukoplakia	51750	RTEL1	ORPHA:3322
HP:0002745	Oral leukoplakia	51750	RTEL1	ORPHA:1775
HP:0002745	Oral leukoplakia	65057	ACD	ORPHA:3322
HP:0002745	Oral leukoplakia	65057	ACD	OMIM:616553
HP:0002745	Oral leukoplakia	5073	PARN	ORPHA:3322
HP:0002745	Oral leukoplakia	5073	PARN	OMIM:616353
HP:0002745	Oral leukoplakia	5073	PARN	ORPHA:1775
HP:0002745	Oral leukoplakia	7015	TERT	ORPHA:3322
HP:0002745	Oral leukoplakia	7015	TERT	ORPHA:1775
HP:0002745	Oral leukoplakia	7015	TERT	OMIM:127550
HP:0002745	Oral leukoplakia	7015	TERT	OMIM:613989
HP:0002745	Oral leukoplakia	4210	MEFV	ORPHA:342
HP:0002745	Oral leukoplakia	831	CAST	OMIM:616295
HP:0002745	Oral leukoplakia	80169	CTC1	OMIM:612199
HP:0002745	Oral leukoplakia	80169	CTC1	ORPHA:1775
HP:0002745	Oral leukoplakia	79650	USB1	ORPHA:1775
HP:0002745	Oral leukoplakia	55135	WRAP53	ORPHA:1775
HP:0002745	Oral leukoplakia	55135	WRAP53	OMIM:613988
HP:0002745	Oral leukoplakia	4869	NPM1	ORPHA:1775
HP:0002745	Oral leukoplakia	7012	TERC	ORPHA:1775
HP:0002745	Oral leukoplakia	7012	TERC	OMIM:127550
HP:0002745	Oral leukoplakia	55612	FERMT1	OMIM:173650
HP:0002745	Oral leukoplakia	2706	GJB2	OMIM:148210
HP:0002745	Oral leukoplakia	6117	RPA1	OMIM:619767
HP:0002745	Oral leukoplakia	3872	KRT17	OMIM:167210
HP:0002745	Oral leukoplakia	3872	KRT17	ORPHA:2309
HP:0002745	Oral leukoplakia	3853	KRT6A	OMIM:615726
HP:0002745	Oral leukoplakia	3853	KRT6A	ORPHA:2309
HP:0002745	Oral leukoplakia	3854	KRT6B	ORPHA:2309
HP:0002745	Oral leukoplakia	64858	DCLRE1B	OMIM:620133
HP:0002747	Respiratory insufficiency due to muscle weakness	4359	MPZ	OMIM:618184
HP:0002747	Respiratory insufficiency due to muscle weakness	2673	GFPT1	OMIM:608931
HP:0002747	Respiratory insufficiency due to muscle weakness	1145	CHRNE	OMIM:608931
HP:0002747	Respiratory insufficiency due to muscle weakness	1145	CHRNE	OMIM:605809
HP:0002747	Respiratory insufficiency due to muscle weakness	1410	CRYAB	OMIM:608810
HP:0002747	Respiratory insufficiency due to muscle weakness	1410	CRYAB	ORPHA:399058
HP:0002747	Respiratory insufficiency due to muscle weakness	1291	COL6A1	OMIM:254090
HP:0002747	Respiratory insufficiency due to muscle weakness	1291	COL6A1	OMIM:158810
HP:0002747	Respiratory insufficiency due to muscle weakness	1292	COL6A2	OMIM:254090
HP:0002747	Respiratory insufficiency due to muscle weakness	1292	COL6A2	OMIM:158810
HP:0002747	Respiratory insufficiency due to muscle weakness	1293	COL6A3	OMIM:254090
HP:0002747	Respiratory insufficiency due to muscle weakness	1293	COL6A3	OMIM:158810
HP:0002747	Respiratory insufficiency due to muscle weakness	4574	MT-TS1	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	4574	MT-TS1	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	4570	MT-TN	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	4570	MT-TN	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	6834	SURF1	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	56203	LMOD3	OMIM:616165
HP:0002747	Respiratory insufficiency due to muscle weakness	7167	TPI1	OMIM:615512
HP:0002747	Respiratory insufficiency due to muscle weakness	50484	RRM2B	ORPHA:329336
HP:0002747	Respiratory insufficiency due to muscle weakness	246243	RNASEH1	ORPHA:329336
HP:0002747	Respiratory insufficiency due to muscle weakness	9782	MATR3	OMIM:606070
HP:0002747	Respiratory insufficiency due to muscle weakness	9782	MATR3	ORPHA:600
HP:0002747	Respiratory insufficiency due to muscle weakness	2066	ERBB4	OMIM:615515
HP:0002747	Respiratory insufficiency due to muscle weakness	1756	DMD	OMIM:310200
HP:0002747	Respiratory insufficiency due to muscle weakness	84334	COA8	ORPHA:436271
HP:0002747	Respiratory insufficiency due to muscle weakness	5428	POLG	OMIM:258450
HP:0002747	Respiratory insufficiency due to muscle weakness	1134	CHRNA1	OMIM:608930
HP:0002747	Respiratory insufficiency due to muscle weakness	4703	NEB	OMIM:256030
HP:0002747	Respiratory insufficiency due to muscle weakness	4703	NEB	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	274	BIN1	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	274	BIN1	OMIM:255200
HP:0002747	Respiratory insufficiency due to muscle weakness	64419	MTMR14	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	4618	MYF6	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	1785	DNM2	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:424107
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:597
HP:0002747	Respiratory insufficiency due to muscle weakness	4568	MT-TL2	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	4567	MT-TL1	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	7273	TTN	ORPHA:178464
HP:0002747	Respiratory insufficiency due to muscle weakness	22880	MORC2	ORPHA:466768
HP:0002747	Respiratory insufficiency due to muscle weakness	84197	POMK	OMIM:615249
HP:0002747	Respiratory insufficiency due to muscle weakness	427	ASAH1	OMIM:159950
HP:0002747	Respiratory insufficiency due to muscle weakness	427	ASAH1	ORPHA:2590
HP:0002747	Respiratory insufficiency due to muscle weakness	7084	TK2	ORPHA:254875
HP:0002747	Respiratory insufficiency due to muscle weakness	7084	TK2	OMIM:609560
HP:0002747	Respiratory insufficiency due to muscle weakness	1272	CNTN1	OMIM:612540
HP:0002747	Respiratory insufficiency due to muscle weakness	84876	ORAI1	OMIM:612782
HP:0002747	Respiratory insufficiency due to muscle weakness	29967	LRP12	OMIM:164310
HP:0002747	Respiratory insufficiency due to muscle weakness	80208	SPG11	OMIM:602099
HP:0002747	Respiratory insufficiency due to muscle weakness	57190	SELENON	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	OMIM:161800
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	4633	MYL2	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	3679	ITGA7	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7169	TPM2	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7169	TPM2	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	9200	HACD1	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	OMIM:255310
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7317	UBA1	OMIM:301830
HP:0002747	Respiratory insufficiency due to muscle weakness	127833	SYT2	OMIM:619461
HP:0002747	Respiratory insufficiency due to muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0002747	Respiratory insufficiency due to muscle weakness	4632	MYL1	OMIM:618414
HP:0002747	Respiratory insufficiency due to muscle weakness	10755	GIPC1	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	1103	CHAT	OMIM:254210
HP:0002747	Respiratory insufficiency due to muscle weakness	2548	GAA	OMIM:232300
HP:0002747	Respiratory insufficiency due to muscle weakness	2548	GAA	ORPHA:308552
HP:0002747	Respiratory insufficiency due to muscle weakness	2318	FLNC	ORPHA:63273
HP:0002747	Respiratory insufficiency due to muscle weakness	92667	MGME1	ORPHA:352447
HP:0002747	Respiratory insufficiency due to muscle weakness	9325	TRIP4	OMIM:617066
HP:0002747	Respiratory insufficiency due to muscle weakness	9325	TRIP4	ORPHA:486815
HP:0002747	Respiratory insufficiency due to muscle weakness	291	SLC25A4	OMIM:617184
HP:0002747	Respiratory insufficiency due to muscle weakness	1674	DES	OMIM:601419
HP:0002747	Respiratory insufficiency due to muscle weakness	1674	DES	ORPHA:98909
HP:0002747	Respiratory insufficiency due to muscle weakness	23287	AGTPBP1	OMIM:618276
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	OMIM:300718
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	OMIM:300717
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	ORPHA:98863
HP:0002747	Respiratory insufficiency due to muscle weakness	51244	CCDC174	OMIM:616816
HP:0002747	Respiratory insufficiency due to muscle weakness	8292	COLQ	OMIM:603034
HP:0002747	Respiratory insufficiency due to muscle weakness	51	ACOX1	OMIM:618960
HP:0002747	Respiratory insufficiency due to muscle weakness	2733	GLE1	OMIM:611890
HP:0002747	Respiratory insufficiency due to muscle weakness	23435	TARDBP	OMIM:612069
HP:0002747	Respiratory insufficiency due to muscle weakness	84665	MYPN	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	10324	KLHL41	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	55681	SCYL2	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	84570	COL25A1	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	1073	CFL2	OMIM:610687
HP:0002747	Respiratory insufficiency due to muscle weakness	7138	TNNT1	ORPHA:98902
HP:0002747	Respiratory insufficiency due to muscle weakness	2010	EMD	ORPHA:98863
HP:0002747	Respiratory insufficiency due to muscle weakness	23299	BICD2	OMIM:618291
HP:0002747	Respiratory insufficiency due to muscle weakness	23676	SMPX	OMIM:301075
HP:0002747	Respiratory insufficiency due to muscle weakness	3908	LAMA2	OMIM:607855
HP:0002747	Respiratory insufficiency due to muscle weakness	9927	MFN2	OMIM:617087
HP:0002747	Respiratory insufficiency due to muscle weakness	8803	SUCLA2	OMIM:612073
HP:0002747	Respiratory insufficiency due to muscle weakness	51067	YARS2	OMIM:613561
HP:0002747	Respiratory insufficiency due to muscle weakness	9131	AIFM1	OMIM:300816
HP:0002747	Respiratory insufficiency due to muscle weakness	5081	PAX7	OMIM:618578
HP:0002747	Respiratory insufficiency due to muscle weakness	8291	DYSF	ORPHA:45448
HP:0002747	Respiratory insufficiency due to muscle weakness	4000	LMNA	OMIM:613205
HP:0002747	Respiratory insufficiency due to muscle weakness	4000	LMNA	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23534	TNPO3	OMIM:608423
HP:0002747	Respiratory insufficiency due to muscle weakness	285489	DOK7	OMIM:254300
HP:0002747	Respiratory insufficiency due to muscle weakness	54808	DYM	ORPHA:239
HP:0002747	Respiratory insufficiency due to muscle weakness	79188	TMEM43	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23345	SYNE1	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23224	SYNE2	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	4625	MYH7	ORPHA:324604
HP:0002747	Respiratory insufficiency due to muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	4649	MYO9A	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	1305	COL13A1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6843	VAMP1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	375790	AGRN	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6616	SNAP25	ORPHA:98914
HP:0002748	Rickets	1497	CTNS	OMIM:219800
HP:0002748	Rickets	1497	CTNS	ORPHA:411629
HP:0002748	Rickets	1497	CTNS	OMIM:219900
HP:0002748	Rickets	80270	HSD3B7	OMIM:607765
HP:0002748	Rickets	538	ATP7A	ORPHA:198
HP:0002748	Rickets	5251	PHEX	ORPHA:89936
HP:0002748	Rickets	5251	PHEX	OMIM:307800
HP:0002748	Rickets	8074	FGF23	ORPHA:89937
HP:0002748	Rickets	8074	FGF23	OMIM:193100
HP:0002748	Rickets	1184	CLCN5	OMIM:300554
HP:0002748	Rickets	1184	CLCN5	OMIM:300009
HP:0002748	Rickets	6521	SLC4A1	OMIM:611590
HP:0002748	Rickets	142680	SLC34A3	OMIM:241530
HP:0002748	Rickets	1594	CYP27B1	ORPHA:289157
HP:0002748	Rickets	1594	CYP27B1	OMIM:264700
HP:0002748	Rickets	120227	CYP2R1	ORPHA:289157
HP:0002748	Rickets	120227	CYP2R1	OMIM:600081
HP:0002748	Rickets	570	BAAT	OMIM:619232
HP:0002748	Rickets	249	ALPL	OMIM:146300
HP:0002748	Rickets	5205	ATP8B1	OMIM:211600
HP:0002748	Rickets	10056	FARSB	OMIM:613658
HP:0002748	Rickets	4952	OCRL	OMIM:309000
HP:0002748	Rickets	6718	AKR1D1	ORPHA:79303
HP:0002748	Rickets	6514	SLC2A2	OMIM:227810
HP:0002748	Rickets	6514	SLC2A2	ORPHA:2088
HP:0002748	Rickets	2628	GATM	OMIM:134600
HP:0002748	Rickets	6569	SLC34A1	OMIM:613388
HP:0002748	Rickets	1962	EHHADH	OMIM:615605
HP:0002748	Rickets	9414	TJP2	OMIM:607748
HP:0002748	Rickets	50484	RRM2B	OMIM:268315
HP:0002748	Rickets	100151683	RNU4ATAC	ORPHA:2636
HP:0002748	Rickets	3172	HNF4A	OMIM:616026
HP:0002748	Rickets	3117	HLA-DQA1	OMIM:212750
HP:0002748	Rickets	3119	HLA-DQB1	OMIM:212750
HP:0002748	Rickets	9719	ADAMTSL2	ORPHA:1901
HP:0002748	Rickets	9509	ADAMTS2	ORPHA:1901
HP:0002748	Rickets	50617	ATP6V0A4	OMIM:602722
HP:0002748	Rickets	1758	DMP1	OMIM:241520
HP:0002748	Rickets	7421	VDR	OMIM:277440
HP:0002748	Rickets	5442	POLRMT	OMIM:619743
HP:0002748	Rickets	368	ABCC6	OMIM:614473
HP:0002748	Rickets	368	ABCC6	ORPHA:51608
HP:0002748	Rickets	137682	NDUFAF6	OMIM:618913
HP:0002748	Rickets	137682	NDUFAF6	ORPHA:3337
HP:0002748	Rickets	4665	NAB2	ORPHA:2126
HP:0002748	Rickets	6778	STAT6	ORPHA:2126
HP:0002748	Rickets	3845	KRAS	OMIM:163200
HP:0002748	Rickets	4893	NRAS	OMIM:163200
HP:0002748	Rickets	3265	HRAS	OMIM:163200
HP:0002748	Rickets	3265	HRAS	ORPHA:2874
HP:0002748	Rickets	2184	FAH	ORPHA:882
HP:0002748	Rickets	5167	ENPP1	ORPHA:289176
HP:0002749	Osteomalacia	5251	PHEX	OMIM:307800
HP:0002749	Osteomalacia	7421	VDR	ORPHA:93160
HP:0002749	Osteomalacia	538	ATP7A	ORPHA:198
HP:0002749	Osteomalacia	8074	FGF23	ORPHA:89937
HP:0002749	Osteomalacia	8074	FGF23	OMIM:193100
HP:0002749	Osteomalacia	142680	SLC34A3	ORPHA:157215
HP:0002749	Osteomalacia	6569	SLC34A1	ORPHA:157215
HP:0002749	Osteomalacia	6569	SLC34A1	OMIM:613388
HP:0002749	Osteomalacia	6569	SLC34A1	ORPHA:3337
HP:0002749	Osteomalacia	1184	CLCN5	OMIM:300554
HP:0002749	Osteomalacia	1184	CLCN5	OMIM:300009
HP:0002749	Osteomalacia	1758	DMP1	ORPHA:289176
HP:0002749	Osteomalacia	5167	ENPP1	ORPHA:289176
HP:0002749	Osteomalacia	5167	ENPP1	ORPHA:51608
HP:0002749	Osteomalacia	6521	SLC4A1	OMIM:179800
HP:0002749	Osteomalacia	368	ABCC6	ORPHA:51608
HP:0002749	Osteomalacia	1594	CYP27B1	ORPHA:289157
HP:0002749	Osteomalacia	120227	CYP2R1	ORPHA:289157
HP:0002749	Osteomalacia	249	ALPL	OMIM:146300
HP:0002749	Osteomalacia	100151683	RNU4ATAC	ORPHA:2636
HP:0002749	Osteomalacia	118429	ANTXR2	ORPHA:2176
HP:0002749	Osteomalacia	9719	ADAMTSL2	ORPHA:1901
HP:0002749	Osteomalacia	9509	ADAMTS2	ORPHA:1901
HP:0002749	Osteomalacia	4952	OCRL	OMIM:309000
HP:0002749	Osteomalacia	4952	OCRL	ORPHA:534
HP:0002749	Osteomalacia	2778	GNAS	ORPHA:562
HP:0002749	Osteomalacia	6850	SYK	OMIM:619381
HP:0002749	Osteomalacia	1175	AP2S1	OMIM:600740
HP:0002749	Osteomalacia	6514	SLC2A2	OMIM:227810
HP:0002749	Osteomalacia	2628	GATM	OMIM:134600
HP:0002749	Osteomalacia	2628	GATM	ORPHA:3337
HP:0002749	Osteomalacia	540	ATP7B	OMIM:277900
HP:0002749	Osteomalacia	1962	EHHADH	ORPHA:3337
HP:0002749	Osteomalacia	137682	NDUFAF6	ORPHA:3337
HP:0009906	Aplasia/Hypoplasia of the earlobes	3187	HNRNPH1	OMIM:620083
HP:0009906	Aplasia/Hypoplasia of the earlobes	6611	SMS	ORPHA:3063
HP:0009906	Aplasia/Hypoplasia of the earlobes	253738	EBF3	OMIM:617330
HP:0009906	Aplasia/Hypoplasia of the earlobes	5792	PTPRF	OMIM:616001
HP:0009906	Aplasia/Hypoplasia of the earlobes	51099	ABHD5	ORPHA:98907
HP:0009906	Aplasia/Hypoplasia of the earlobes	2335	FN1	ORPHA:93315
HP:0009906	Aplasia/Hypoplasia of the earlobes	1280	COL2A1	ORPHA:93315
HP:0009906	Aplasia/Hypoplasia of the earlobes	7994	KAT6A	OMIM:616268
HP:0009906	Aplasia/Hypoplasia of the earlobes	284252	KCTD1	ORPHA:2036
HP:0009906	Aplasia/Hypoplasia of the earlobes	284252	KCTD1	OMIM:181270
HP:0009906	Aplasia/Hypoplasia of the earlobes	11128	POLR3A	OMIM:264090
HP:0009906	Aplasia/Hypoplasia of the earlobes	1312	COMT	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	221037	JMJD1C	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	2812	GP1BB	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	6239	RREB1	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	6899	TBX1	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	7290	HIRA	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	9632	SEC24C	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	7353	UFD1	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	421	ARVCF	ORPHA:567
HP:0009906	Aplasia/Hypoplasia of the earlobes	9896	FIG4	OMIM:216340
HP:0009906	Aplasia/Hypoplasia of the earlobes	91179	SCARF2	OMIM:600920
HP:0009906	Aplasia/Hypoplasia of the earlobes	7750	ZMYM2	OMIM:619522
HP:0009906	Aplasia/Hypoplasia of the earlobes	27245	AHDC1	ORPHA:412069
HP:0009906	Aplasia/Hypoplasia of the earlobes	27245	AHDC1	OMIM:615829
HP:0009906	Aplasia/Hypoplasia of the earlobes	990	CDC6	OMIM:613805
HP:0009906	Aplasia/Hypoplasia of the earlobes	55343	SLC35C1	ORPHA:99843
HP:0009906	Aplasia/Hypoplasia of the earlobes	8241	RBM10	ORPHA:2886
HP:0009906	Aplasia/Hypoplasia of the earlobes	157570	ESCO2	OMIM:268300
HP:0009906	Aplasia/Hypoplasia of the earlobes	157570	ESCO2	ORPHA:3103
HP:0009906	Aplasia/Hypoplasia of the earlobes	11285	B4GALT7	OMIM:130070
HP:0009906	Aplasia/Hypoplasia of the earlobes	1387	CREBBP	OMIM:618332
HP:0009906	Aplasia/Hypoplasia of the earlobes	2033	EP300	OMIM:618333
HP:0009906	Aplasia/Hypoplasia of the earlobes	55628	ZNF407	OMIM:619557
HP:0009906	Aplasia/Hypoplasia of the earlobes	545	ATR	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	1062	CENPE	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	5932	RBBP8	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	79902	NUP85	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	84126	ATRIP	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	55835	CENPJ	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	10293	TRAIP	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	22995	CEP152	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	10733	PLK4	ORPHA:808
HP:0009906	Aplasia/Hypoplasia of the earlobes	9757	KMT2B	OMIM:619934
HP:0009906	Aplasia/Hypoplasia of the earlobes	3166	HMX1	OMIM:612109
HP:0009906	Aplasia/Hypoplasia of the earlobes	1281	COL3A1	ORPHA:286
HP:0009906	Aplasia/Hypoplasia of the earlobes	3039	HBA1	ORPHA:98791
HP:0009906	Aplasia/Hypoplasia of the earlobes	3040	HBA2	ORPHA:98791
HP:0009906	Aplasia/Hypoplasia of the earlobes	157680	VPS13B	ORPHA:193
HP:0009906	Aplasia/Hypoplasia of the earlobes	2263	FGFR2	ORPHA:1555
HP:0009906	Aplasia/Hypoplasia of the earlobes	5116	PCNT	ORPHA:2637
HP:0009906	Aplasia/Hypoplasia of the earlobes	2313	FLI1	ORPHA:2308
HP:0009906	Aplasia/Hypoplasia of the earlobes	55636	CHD7	ORPHA:138
HP:0009906	Aplasia/Hypoplasia of the earlobes	9723	SEMA3E	ORPHA:138
HP:0009905	Thin ear helix	25914	RTTN	ORPHA:468631
HP:0009908	Anterior creases of earlobe	57479	PRR12	OMIM:619539
HP:0009908	Anterior creases of earlobe	673	BRAF	OMIM:115150
HP:0009908	Anterior creases of earlobe	2719	GPC3	OMIM:312870
HP:0009908	Anterior creases of earlobe	2239	GPC4	OMIM:312870
HP:0009908	Anterior creases of earlobe	6899	TBX1	ORPHA:1727
HP:0009907	Attached earlobe	56006	SMG9	OMIM:616920
HP:0009907	Attached earlobe	51109	RDH11	ORPHA:436245
HP:0009907	Attached earlobe	51109	RDH11	OMIM:616108
HP:0009907	Attached earlobe	9653	HS2ST1	OMIM:619194
HP:0009907	Attached earlobe	1009	CDH11	ORPHA:1299
HP:0009907	Attached earlobe	3097	HIVEP2	OMIM:616977
HP:0009907	Attached earlobe	7468	NSD2	OMIM:619695
HP:0009911	Abnormal temporal bone morphology	9573	GDF3	OMIM:613703
HP:0009911	Abnormal temporal bone morphology	392255	GDF6	OMIM:613703
HP:0009911	Abnormal temporal bone morphology	9702	CEP57	OMIM:614114
HP:0009911	Abnormal temporal bone morphology	5447	POR	OMIM:201750
HP:0009911	Abnormal temporal bone morphology	2261	FGFR3	OMIM:602849
HP:0009912	Abnormal tragus morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0009912	Abnormal tragus morphology	6299	SALL1	ORPHA:857
HP:0009912	Abnormal tragus morphology	51339	DACT1	ORPHA:857
HP:0009912	Abnormal tragus morphology	23347	SMCHD1	OMIM:603457
HP:0009912	Abnormal tragus morphology	23556	PIGN	ORPHA:280633
HP:0009912	Abnormal tragus morphology	2736	GLI2	OMIM:610829
HP:0009912	Abnormal tragus morphology	23511	NUP188	OMIM:618804
HP:0009912	Abnormal tragus morphology	7994	KAT6A	OMIM:616268
HP:0009912	Abnormal tragus morphology	284252	KCTD1	OMIM:181270
HP:0009912	Abnormal tragus morphology	284252	KCTD1	ORPHA:2036
HP:0009912	Abnormal tragus morphology	10992	SF3B2	OMIM:164210
HP:0009912	Abnormal tragus morphology	9343	EFTUD2	ORPHA:79113
HP:0009913	Aplasia/Hypoplasia of the tragus	23347	SMCHD1	OMIM:603457
HP:0009913	Aplasia/Hypoplasia of the tragus	2736	GLI2	OMIM:610829
HP:0009913	Aplasia/Hypoplasia of the tragus	23511	NUP188	OMIM:618804
HP:0009913	Aplasia/Hypoplasia of the tragus	7994	KAT6A	OMIM:616268
HP:0009913	Aplasia/Hypoplasia of the tragus	284252	KCTD1	OMIM:181270
HP:0009913	Aplasia/Hypoplasia of the tragus	284252	KCTD1	ORPHA:2036
HP:0009913	Aplasia/Hypoplasia of the tragus	10992	SF3B2	OMIM:164210
HP:0009913	Aplasia/Hypoplasia of the tragus	9343	EFTUD2	ORPHA:79113
HP:0009914	Cyclopia	6469	SHH	OMIM:142945
HP:0009914	Cyclopia	6469	SHH	ORPHA:280200
HP:0009914	Cyclopia	6469	SHH	ORPHA:220386
HP:0009914	Cyclopia	6469	SHH	ORPHA:93926
HP:0009914	Cyclopia	6469	SHH	OMIM:147250
HP:0009914	Cyclopia	6469	SHH	ORPHA:93924
HP:0009914	Cyclopia	6469	SHH	ORPHA:93925
HP:0009914	Cyclopia	2260	FGFR1	ORPHA:280200
HP:0009914	Cyclopia	2260	FGFR1	ORPHA:220386
HP:0009914	Cyclopia	2260	FGFR1	ORPHA:93924
HP:0009914	Cyclopia	28514	DLL1	ORPHA:280200
HP:0009914	Cyclopia	28514	DLL1	ORPHA:220386
HP:0009914	Cyclopia	28514	DLL1	ORPHA:93926
HP:0009914	Cyclopia	28514	DLL1	ORPHA:93924
HP:0009914	Cyclopia	28514	DLL1	ORPHA:93925
HP:0009914	Cyclopia	2253	FGF8	ORPHA:280200
HP:0009914	Cyclopia	2253	FGF8	ORPHA:220386
HP:0009914	Cyclopia	2253	FGF8	ORPHA:93926
HP:0009914	Cyclopia	2253	FGF8	ORPHA:93924
HP:0009914	Cyclopia	2253	FGF8	ORPHA:93925
HP:0009914	Cyclopia	6496	SIX3	ORPHA:280200
HP:0009914	Cyclopia	6496	SIX3	ORPHA:220386
HP:0009914	Cyclopia	6496	SIX3	ORPHA:93926
HP:0009914	Cyclopia	6496	SIX3	ORPHA:93924
HP:0009914	Cyclopia	6496	SIX3	ORPHA:93925
HP:0009914	Cyclopia	6496	SIX3	OMIM:157170
HP:0009914	Cyclopia	7050	TGIF1	ORPHA:280200
HP:0009914	Cyclopia	7050	TGIF1	ORPHA:220386
HP:0009914	Cyclopia	7050	TGIF1	ORPHA:93926
HP:0009914	Cyclopia	7050	TGIF1	ORPHA:93924
HP:0009914	Cyclopia	7050	TGIF1	ORPHA:93925
HP:0009914	Cyclopia	4838	NODAL	ORPHA:280200
HP:0009914	Cyclopia	4838	NODAL	ORPHA:220386
HP:0009914	Cyclopia	4838	NODAL	ORPHA:93926
HP:0009914	Cyclopia	4838	NODAL	ORPHA:93924
HP:0009914	Cyclopia	4838	NODAL	ORPHA:93925
HP:0009914	Cyclopia	51684	SUFU	ORPHA:280200
HP:0009914	Cyclopia	7546	ZIC2	ORPHA:280200
HP:0009914	Cyclopia	7546	ZIC2	ORPHA:220386
HP:0009914	Cyclopia	7546	ZIC2	ORPHA:93926
HP:0009914	Cyclopia	7546	ZIC2	ORPHA:93924
HP:0009914	Cyclopia	7546	ZIC2	ORPHA:93925
HP:0009914	Cyclopia	2619	GAS1	ORPHA:280200
HP:0009914	Cyclopia	2619	GAS1	ORPHA:220386
HP:0009914	Cyclopia	2619	GAS1	ORPHA:93926
HP:0009914	Cyclopia	2619	GAS1	ORPHA:93924
HP:0009914	Cyclopia	2619	GAS1	ORPHA:93925
HP:0009914	Cyclopia	84976	DISP1	ORPHA:280200
HP:0009914	Cyclopia	84976	DISP1	ORPHA:220386
HP:0009914	Cyclopia	84976	DISP1	ORPHA:93926
HP:0009914	Cyclopia	84976	DISP1	ORPHA:93924
HP:0009914	Cyclopia	84976	DISP1	ORPHA:93925
HP:0009914	Cyclopia	2736	GLI2	ORPHA:280200
HP:0009914	Cyclopia	2736	GLI2	ORPHA:220386
HP:0009914	Cyclopia	2736	GLI2	ORPHA:93926
HP:0009914	Cyclopia	2736	GLI2	ORPHA:93924
HP:0009914	Cyclopia	2736	GLI2	ORPHA:93925
HP:0009914	Cyclopia	8928	FOXH1	ORPHA:280200
HP:0009914	Cyclopia	8928	FOXH1	ORPHA:220386
HP:0009914	Cyclopia	8928	FOXH1	ORPHA:93926
HP:0009914	Cyclopia	8928	FOXH1	ORPHA:93924
HP:0009914	Cyclopia	8928	FOXH1	ORPHA:93925
HP:0009914	Cyclopia	5727	PTCH1	ORPHA:280200
HP:0009914	Cyclopia	5727	PTCH1	ORPHA:220386
HP:0009914	Cyclopia	5727	PTCH1	ORPHA:93926
HP:0009914	Cyclopia	5727	PTCH1	ORPHA:93924
HP:0009914	Cyclopia	5727	PTCH1	ORPHA:93925
HP:0009914	Cyclopia	50937	CDON	ORPHA:280200
HP:0009914	Cyclopia	50937	CDON	ORPHA:220386
HP:0009914	Cyclopia	50937	CDON	ORPHA:93926
HP:0009914	Cyclopia	50937	CDON	ORPHA:93924
HP:0009914	Cyclopia	50937	CDON	ORPHA:93925
HP:0009914	Cyclopia	10735	STAG2	OMIM:301043
HP:0009914	Cyclopia	10735	STAG2	ORPHA:220386
HP:0009914	Cyclopia	10735	STAG2	ORPHA:93925
HP:0009914	Cyclopia	5396	PRRX1	ORPHA:990
HP:0009914	Cyclopia	5015	OTX2	ORPHA:990
HP:0009914	Cyclopia	23007	PLCH1	OMIM:619895
HP:0009914	Cyclopia	23007	PLCH1	ORPHA:93925
HP:0009914	Cyclopia	8243	SMC1A	ORPHA:220386
HP:0009914	Cyclopia	6491	STIL	ORPHA:220386
HP:0009914	Cyclopia	6491	STIL	ORPHA:93926
HP:0009914	Cyclopia	6491	STIL	ORPHA:93924
HP:0009914	Cyclopia	6491	STIL	ORPHA:93925
HP:0002752	Sparse bone trabeculae	7421	VDR	OMIM:277440
HP:0002752	Sparse bone trabeculae	120227	CYP2R1	OMIM:600081
HP:0002752	Sparse bone trabeculae	120227	CYP2R1	ORPHA:289157
HP:0002752	Sparse bone trabeculae	1594	CYP27B1	OMIM:264700
HP:0002752	Sparse bone trabeculae	1594	CYP27B1	ORPHA:289157
HP:0002752	Sparse bone trabeculae	1184	CLCN5	OMIM:300554
HP:0002752	Sparse bone trabeculae	1184	CLCN5	OMIM:300009
HP:0002752	Sparse bone trabeculae	142680	SLC34A3	OMIM:241530
HP:0002753	Thin bony cortex	64132	XYLT2	OMIM:605822
HP:0002753	Thin bony cortex	79879	CCDC134	OMIM:619795
HP:0002753	Thin bony cortex	6424	SFRP4	OMIM:265900
HP:0002753	Thin bony cortex	1184	CLCN5	OMIM:300554
HP:0002753	Thin bony cortex	1184	CLCN5	OMIM:300009
HP:0002753	Thin bony cortex	142680	SLC34A3	OMIM:241530
HP:0002753	Thin bony cortex	1594	CYP27B1	ORPHA:289157
HP:0002753	Thin bony cortex	1594	CYP27B1	OMIM:264700
HP:0002753	Thin bony cortex	120227	CYP2R1	ORPHA:289157
HP:0002753	Thin bony cortex	120227	CYP2R1	OMIM:600081
HP:0002753	Thin bony cortex	5593	PRKG2	OMIM:619638
HP:0002753	Thin bony cortex	55603	TENT5A	OMIM:617952
HP:0002753	Thin bony cortex	6611	SMS	OMIM:309583
HP:0002753	Thin bony cortex	2720	GLB1	OMIM:230600
HP:0002753	Thin bony cortex	10056	FARSB	OMIM:613658
HP:0002753	Thin bony cortex	4313	MMP2	OMIM:259600
HP:0002753	Thin bony cortex	5745	PTH1R	ORPHA:79106
HP:0002753	Thin bony cortex	2200	FBN1	OMIM:608328
HP:0002753	Thin bony cortex	8792	TNFRSF11A	OMIM:174810
HP:0002753	Thin bony cortex	7421	VDR	OMIM:277440
HP:0002753	Thin bony cortex	207	AKT1	OMIM:176920
HP:0002753	Thin bony cortex	79639	TMEM53	OMIM:619727
HP:0002753	Thin bony cortex	871	SERPINH1	OMIM:613848
HP:0002753	Thin bony cortex	81794	ADAMTS10	OMIM:277600
HP:0002754	Osteomyelitis	22948	CCT5	OMIM:256840
HP:0002754	Osteomyelitis	22948	CCT5	ORPHA:139578
HP:0002754	Osteomyelitis	7879	RAB7A	OMIM:600882
HP:0002754	Osteomyelitis	3043	HBB	ORPHA:232
HP:0002754	Osteomyelitis	9663	LPIN2	OMIM:609628
HP:0002754	Osteomyelitis	9663	LPIN2	ORPHA:77297
HP:0002754	Osteomyelitis	3689	ITGB2	OMIM:116920
HP:0002754	Osteomyelitis	10312	TCIRG1	ORPHA:210110
HP:0002754	Osteomyelitis	10312	TCIRG1	OMIM:259700
HP:0002754	Osteomyelitis	9842	PLEKHM1	ORPHA:210110
HP:0002754	Osteomyelitis	6711	SPTBN1	OMIM:619475
HP:0002754	Osteomyelitis	25923	ATL3	OMIM:615632
HP:0002754	Osteomyelitis	25923	ATL3	ORPHA:36386
HP:0002754	Osteomyelitis	4688	NCF2	OMIM:233710
HP:0002754	Osteomyelitis	5238	PGM3	ORPHA:443811
HP:0002754	Osteomyelitis	8517	IKBKG	OMIM:301081
HP:0002754	Osteomyelitis	4803	NGF	OMIM:608654
HP:0002754	Osteomyelitis	3106	HLA-B	ORPHA:29207
HP:0002754	Osteomyelitis	6340	SCNN1G	ORPHA:171876
HP:0002754	Osteomyelitis	6337	SCNN1A	ORPHA:171876
HP:0002754	Osteomyelitis	6338	SCNN1B	ORPHA:171876
HP:0002754	Osteomyelitis	3557	IL1RN	OMIM:612852
HP:0002754	Osteomyelitis	1786	DNMT1	OMIM:614116
HP:0002754	Osteomyelitis	134218	DNAJC21	ORPHA:811
HP:0002754	Osteomyelitis	79631	EFL1	ORPHA:811
HP:0002754	Osteomyelitis	51119	SBDS	ORPHA:811
HP:0002754	Osteomyelitis	6729	SRP54	ORPHA:811
HP:0002754	Osteomyelitis	51062	ATL1	OMIM:613708
HP:0002754	Osteomyelitis	51062	ATL1	ORPHA:36386
HP:0002754	Osteomyelitis	10558	SPTLC1	OMIM:162400
HP:0002754	Osteomyelitis	10558	SPTLC1	ORPHA:36386
HP:0002754	Osteomyelitis	695	BTK	ORPHA:47
HP:0002754	Osteomyelitis	84905	ZNF341	OMIM:618282
HP:0002754	Osteomyelitis	5966	REL	OMIM:619652
HP:0002754	Osteomyelitis	6772	STAT1	OMIM:614162
HP:0002754	Osteomyelitis	28982	FLVCR1	ORPHA:88628
HP:0002754	Osteomyelitis	8218	CLTCL1	ORPHA:453510
HP:0002754	Osteomyelitis	6774	STAT3	ORPHA:2314
HP:0002754	Osteomyelitis	50943	FOXP3	ORPHA:37042
HP:0002754	Osteomyelitis	54463	RETREG1	OMIM:613115
HP:0002754	Osteomyelitis	2019	EN1	OMIM:619218
HP:0002754	Osteomyelitis	1535	CYBA	OMIM:233690
HP:0002754	Osteomyelitis	3248	HPGD	ORPHA:2796
HP:0002754	Osteomyelitis	6578	SLCO2A1	ORPHA:2796
HP:0002754	Osteomyelitis	6850	SYK	OMIM:619381
HP:0002754	Osteomyelitis	4914	NTRK1	ORPHA:642
HP:0002754	Osteomyelitis	4914	NTRK1	OMIM:256800
HP:0002754	Osteomyelitis	538	ATP7A	ORPHA:565
HP:0002754	Osteomyelitis	1536	CYBB	OMIM:306400
HP:0002754	Osteomyelitis	2624	GATA2	OMIM:614172
HP:0002754	Osteomyelitis	205327	C2orf69	OMIM:619423
HP:0002754	Osteomyelitis	9517	SPTLC2	OMIM:613640
HP:0002754	Osteomyelitis	9517	SPTLC2	ORPHA:36386
HP:0002754	Osteomyelitis	653361	NCF1	OMIM:233700
HP:0002754	Osteomyelitis	6929	TCF3	ORPHA:33110
HP:0002754	Osteomyelitis	973	CD79A	ORPHA:33110
HP:0002754	Osteomyelitis	974	CD79B	ORPHA:33110
HP:0002754	Osteomyelitis	3543	IGLL1	ORPHA:33110
HP:0002754	Osteomyelitis	3507	IGHM	ORPHA:33110
HP:0002754	Osteomyelitis	29760	BLNK	ORPHA:33110
HP:0002754	Osteomyelitis	5295	PIK3R1	ORPHA:33110
HP:0002754	Osteomyelitis	56262	LRRC8A	ORPHA:33110
HP:0002754	Osteomyelitis	4358	MPV17	OMIM:256810
HP:0002754	Osteomyelitis	4507	MTAP	OMIM:112250
HP:0002754	Osteomyelitis	3459	IFNGR1	OMIM:209950
HP:0002754	Osteomyelitis	3459	IFNGR1	OMIM:615978
HP:0002754	Osteomyelitis	3594	IL12RB1	ORPHA:319552
HP:0002754	Osteomyelitis	203859	ANO5	ORPHA:53697
HP:0002754	Osteomyelitis	1186	CLCN7	ORPHA:53
HP:0002754	Osteomyelitis	1186	CLCN7	OMIM:166600
HP:0002754	Osteomyelitis	8600	TNFSF11	OMIM:259710
HP:0002756	Pathologic fracture	171023	ASXL1	ORPHA:98850
HP:0002756	Pathologic fracture	54790	TET2	ORPHA:98850
HP:0002756	Pathologic fracture	867	CBL	ORPHA:98850
HP:0002756	Pathologic fracture	861	RUNX1	ORPHA:98850
HP:0002756	Pathologic fracture	6427	SRSF2	ORPHA:98850
HP:0002756	Pathologic fracture	9056	SLC7A7	ORPHA:470
HP:0002756	Pathologic fracture	595	CCND1	ORPHA:29073
HP:0002756	Pathologic fracture	2778	GNAS	OMIM:174800
HP:0002756	Pathologic fracture	10312	TCIRG1	OMIM:259700
HP:0002756	Pathologic fracture	249	ALPL	OMIM:146300
HP:0002756	Pathologic fracture	9401	RECQL4	ORPHA:221016
HP:0002756	Pathologic fracture	189	AGXT	OMIM:259900
HP:0002756	Pathologic fracture	540	ATP7B	ORPHA:905
HP:0002756	Pathologic fracture	4952	OCRL	OMIM:309000
HP:0002756	Pathologic fracture	7157	TP53	ORPHA:668
HP:0002756	Pathologic fracture	5925	RB1	ORPHA:668
HP:0002756	Pathologic fracture	11200	CHEK2	ORPHA:668
HP:0002756	Pathologic fracture	54209	TREM2	OMIM:618193
HP:0002756	Pathologic fracture	2629	GBA1	OMIM:230800
HP:0002756	Pathologic fracture	2629	GBA1	ORPHA:77259
HP:0002756	Pathologic fracture	51124	IER3IP1	OMIM:614231
HP:0002756	Pathologic fracture	8792	TNFRSF11A	OMIM:174810
HP:0002756	Pathologic fracture	4233	MET	OMIM:607278
HP:0002756	Pathologic fracture	4041	LRP5	OMIM:259770
HP:0002756	Pathologic fracture	79158	GNPTAB	OMIM:252500
HP:0002756	Pathologic fracture	2710	GK	OMIM:307030
HP:0002756	Pathologic fracture	3178	HNRNPA1	ORPHA:52430
HP:0002756	Pathologic fracture	7415	VCP	ORPHA:52430
HP:0002756	Pathologic fracture	3181	HNRNPA2B1	ORPHA:52430
HP:0002756	Pathologic fracture	126792	B3GALT6	OMIM:271640
HP:0002756	Pathologic fracture	6609	SMPD1	ORPHA:77293
HP:0002756	Pathologic fracture	5745	PTH1R	OMIM:156400
HP:0002756	Pathologic fracture	7390	UROS	OMIM:263700
HP:0002756	Pathologic fracture	142680	SLC34A3	ORPHA:157215
HP:0002756	Pathologic fracture	6569	SLC34A1	ORPHA:157215
HP:0002756	Pathologic fracture	6521	SLC4A1	OMIM:179800
HP:0002756	Pathologic fracture	4853	NOTCH2	OMIM:102500
HP:0002756	Pathologic fracture	8815	BANF1	OMIM:614008
HP:0002756	Pathologic fracture	4052	LTBP1	ORPHA:90349
HP:0002756	Pathologic fracture	30008	EFEMP2	ORPHA:90349
HP:0002756	Pathologic fracture	10516	FBLN5	ORPHA:90349
HP:0002756	Pathologic fracture	6522	SLC4A2	OMIM:620366
HP:0002756	Pathologic fracture	3977	LIFR	OMIM:601559
HP:0002756	Pathologic fracture	4507	MTAP	OMIM:112250
HP:0002756	Pathologic fracture	7305	TYROBP	OMIM:221770
HP:0002756	Pathologic fracture	8985	PLOD3	OMIM:612394
HP:0002756	Pathologic fracture	80169	CTC1	OMIM:612199
HP:0002756	Pathologic fracture	175	AGA	OMIM:208400
HP:0002756	Pathologic fracture	567	B2M	ORPHA:314652
HP:0002756	Pathologic fracture	950	SCARB2	ORPHA:77259
HP:0002756	Pathologic fracture	10558	SPTLC1	ORPHA:36386
HP:0002756	Pathologic fracture	25923	ATL3	ORPHA:36386
HP:0002756	Pathologic fracture	9517	SPTLC2	ORPHA:36386
HP:0002756	Pathologic fracture	51062	ATL1	ORPHA:36386
HP:0002756	Pathologic fracture	6309	SC5D	OMIM:607330
HP:0002758	Osteoarthritis	1311	COMP	ORPHA:750
HP:0002758	Osteoarthritis	1311	COMP	OMIM:177170
HP:0002758	Osteoarthritis	1311	COMP	ORPHA:93308
HP:0002758	Osteoarthritis	8838	CCN6	OMIM:208230
HP:0002758	Osteoarthritis	3703	STT3A	OMIM:619714
HP:0002758	Osteoarthritis	4803	NGF	OMIM:608654
HP:0002758	Osteoarthritis	2261	FGFR3	ORPHA:429
HP:0002758	Osteoarthritis	3248	HPGD	ORPHA:1525
HP:0002758	Osteoarthritis	4210	MEFV	ORPHA:342
HP:0002758	Osteoarthritis	2158	F9	OMIM:306900
HP:0002758	Osteoarthritis	4000	LMNA	ORPHA:740
HP:0002758	Osteoarthritis	10269	ZMPSTE24	ORPHA:740
HP:0002758	Osteoarthritis	2157	F8	OMIM:306700
HP:0002758	Osteoarthritis	1289	COL5A1	OMIM:130000
HP:0002758	Osteoarthritis	1289	COL5A1	ORPHA:287
HP:0002758	Osteoarthritis	1299	COL9A3	OMIM:600969
HP:0002758	Osteoarthritis	1299	COL9A3	ORPHA:166002
HP:0002758	Osteoarthritis	540	ATP7B	OMIM:277900
HP:0002758	Osteoarthritis	30061	SLC40A1	OMIM:606069
HP:0002758	Osteoarthritis	2778	GNAS	ORPHA:2762
HP:0002758	Osteoarthritis	124583	CANT1	OMIM:251450
HP:0002758	Osteoarthritis	1297	COL9A1	ORPHA:166002
HP:0002758	Osteoarthritis	1297	COL9A1	OMIM:614135
HP:0002758	Osteoarthritis	5251	PHEX	OMIM:307800
HP:0002758	Osteoarthritis	11117	EMILIN1	OMIM:620080
HP:0002758	Osteoarthritis	56172	ANKH	OMIM:118600
HP:0002758	Osteoarthritis	56172	ANKH	ORPHA:1416
HP:0002758	Osteoarthritis	165	AEBP1	OMIM:618000
HP:0002758	Osteoarthritis	55325	UFSP2	ORPHA:2114
HP:0002758	Osteoarthritis	55325	UFSP2	OMIM:142669
HP:0002758	Osteoarthritis	83550	GPR101	ORPHA:963
HP:0002758	Osteoarthritis	9049	AIP	ORPHA:963
HP:0002758	Osteoarthritis	3081	HGD	ORPHA:56
HP:0002758	Osteoarthritis	1290	COL5A2	ORPHA:287
HP:0002758	Osteoarthritis	1186	CLCN7	ORPHA:53
HP:0002758	Osteoarthritis	1281	COL3A1	ORPHA:286
HP:0002758	Osteoarthritis	7043	TGFB3	OMIM:615582
HP:0002758	Osteoarthritis	406932	MIR140	OMIM:618618
HP:0002758	Osteoarthritis	7227	TRPS1	OMIM:190350
HP:0002758	Osteoarthritis	57592	ZNF687	OMIM:616833
HP:0002758	Osteoarthritis	4982	TNFRSF11B	ORPHA:1416
HP:0002758	Osteoarthritis	2690	GHR	ORPHA:633
HP:0002758	Osteoarthritis	2629	GBA1	ORPHA:77259
HP:0002758	Osteoarthritis	950	SCARB2	ORPHA:77259
HP:0002758	Osteoarthritis	1302	COL11A2	OMIM:184840
HP:0002758	Osteoarthritis	1302	COL11A2	OMIM:215150
HP:0002758	Osteoarthritis	3835	KIF22	ORPHA:93360
HP:0002758	Osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0002758	Osteoarthritis	1277	COL1A1	OMIM:130060
HP:0002758	Osteoarthritis	2200	FBN1	OMIM:154700
HP:0002758	Osteoarthritis	1836	SLC26A2	ORPHA:93307
HP:0002758	Osteoarthritis	65992	DDRGK1	ORPHA:93352
HP:0002758	Osteoarthritis	176	ACAN	OMIM:165800
HP:0002758	Osteoarthritis	10216	PRG4	ORPHA:2848
HP:0002758	Osteoarthritis	4088	SMAD3	ORPHA:284984
HP:0002758	Osteoarthritis	4148	MATN3	ORPHA:93311
HP:0002758	Osteoarthritis	59341	TRPV4	ORPHA:85169
HP:0002758	Osteoarthritis	1301	COL11A1	OMIM:154780
HP:0002758	Osteoarthritis	1298	COL9A2	OMIM:600204
HP:0002758	Osteoarthritis	6775	STAT4	ORPHA:85408
HP:0002758	Osteoarthritis	6775	STAT4	ORPHA:85410
HP:0002758	Osteoarthritis	3560	IL2RB	ORPHA:85408
HP:0002758	Osteoarthritis	3560	IL2RB	ORPHA:85410
HP:0002758	Osteoarthritis	79722	ANKRD55	ORPHA:85408
HP:0002758	Osteoarthritis	79722	ANKRD55	ORPHA:85410
HP:0002758	Osteoarthritis	26191	PTPN22	ORPHA:85408
HP:0002758	Osteoarthritis	26191	PTPN22	ORPHA:85410
HP:0002758	Osteoarthritis	919	CD247	ORPHA:85408
HP:0002758	Osteoarthritis	919	CD247	ORPHA:85410
HP:0002758	Osteoarthritis	3559	IL2RA	ORPHA:85408
HP:0002758	Osteoarthritis	3559	IL2RA	ORPHA:85410
HP:0002758	Osteoarthritis	5771	PTPN2	ORPHA:85408
HP:0002758	Osteoarthritis	5771	PTPN2	ORPHA:85410
HP:0002758	Osteoarthritis	1280	COL2A1	OMIM:604864
HP:0002758	Osteoarthritis	4087	SMAD2	OMIM:619656
HP:0002758	Osteoarthritis	4322	MMP13	ORPHA:93356
HP:0002758	Osteoarthritis	54829	ASPN	OMIM:607850
HP:0002758	Osteoarthritis	8200	GDF5	ORPHA:63442
HP:0002758	Osteoarthritis	2487	FRZB	OMIM:165720
HP:0002758	Osteoarthritis	3106	HLA-B	OMIM:106300
HP:0009917	Persistent pupillary membrane	3265	HRAS	ORPHA:79414
HP:0009917	Persistent pupillary membrane	80781	COL18A1	OMIM:267750
HP:0009917	Persistent pupillary membrane	220202	ATOH7	OMIM:221900
HP:0009917	Persistent pupillary membrane	220202	ATOH7	ORPHA:91495
HP:0009917	Persistent pupillary membrane	27151	CPAMD8	OMIM:617319
HP:0009917	Persistent pupillary membrane	54507	ADAMTSL4	OMIM:225200
HP:0009917	Persistent pupillary membrane	29954	POMT2	OMIM:613150
HP:0009917	Persistent pupillary membrane	4693	NDP	ORPHA:91495
HP:0009917	Persistent pupillary membrane	8322	FZD4	ORPHA:91495
HP:0009917	Persistent pupillary membrane	80036	TRPM3	OMIM:620253
HP:0009917	Persistent pupillary membrane	2697	GJA1	OMIM:257850
HP:0009916	Anisocoria	284252	KCTD1	OMIM:181270
HP:0009916	Anisocoria	4016	LOXL1	OMIM:177650
HP:0009916	Anisocoria	1656	DDX6	OMIM:618653
HP:0009916	Anisocoria	91147	TMEM67	OMIM:613550
HP:0009916	Anisocoria	29926	GMPPA	OMIM:615510
HP:0009916	Anisocoria	5376	PMP22	ORPHA:90658
HP:0009916	Anisocoria	79628	SH3TC2	ORPHA:99949
HP:0009916	Anisocoria	25942	SIN3A	OMIM:613406
HP:0009916	Anisocoria	8086	AAAS	OMIM:231550
HP:0009919	Retinoblastoma	5925	RB1	ORPHA:1587
HP:0009919	Retinoblastoma	5925	RB1	OMIM:180200
HP:0009919	Retinoblastoma	5925	RB1	OMIM:259500
HP:0009919	Retinoblastoma	7157	TP53	OMIM:259500
HP:0009919	Retinoblastoma	11200	CHEK2	OMIM:259500
HP:0009918	Ectopia pupillae	2296	FOXC1	OMIM:601631
HP:0009918	Ectopia pupillae	2296	FOXC1	OMIM:602482
HP:0009918	Ectopia pupillae	9839	ZEB2	ORPHA:261552
HP:0009918	Ectopia pupillae	9839	ZEB2	OMIM:235730
HP:0009918	Ectopia pupillae	54507	ADAMTSL4	OMIM:225200
HP:0009918	Ectopia pupillae	54507	ADAMTSL4	ORPHA:1885
HP:0009918	Ectopia pupillae	6909	TBX2	OMIM:618223
HP:0009918	Ectopia pupillae	5130	PCYT1A	ORPHA:85167
HP:0009918	Ectopia pupillae	79977	GRHL2	OMIM:618031
HP:0009918	Ectopia pupillae	79977	GRHL2	ORPHA:98973
HP:0009918	Ectopia pupillae	2200	FBN1	ORPHA:1885
HP:0009918	Ectopia pupillae	6935	ZEB1	OMIM:609141
HP:0009918	Ectopia pupillae	6935	ZEB1	ORPHA:98973
HP:0009918	Ectopia pupillae	58495	OVOL2	OMIM:122000
HP:0009918	Ectopia pupillae	58495	OVOL2	ORPHA:98973
HP:0009918	Ectopia pupillae	387	RHOA	OMIM:618727
HP:0009918	Ectopia pupillae	27151	CPAMD8	OMIM:617319
HP:0009918	Ectopia pupillae	10586	MAB21L2	OMIM:615877
HP:0009918	Ectopia pupillae	1282	COL4A1	OMIM:175780
HP:0009918	Ectopia pupillae	53834	FGFRL1	OMIM:194190
HP:0009918	Ectopia pupillae	1487	CTBP1	OMIM:194190
HP:0009918	Ectopia pupillae	3954	LETM1	OMIM:194190
HP:0009918	Ectopia pupillae	7468	NSD2	OMIM:194190
HP:0009918	Ectopia pupillae	10815	CPLX1	OMIM:194190
HP:0009918	Ectopia pupillae	5308	PITX2	OMIM:180500
HP:0009918	Ectopia pupillae	7490	WT1	OMIM:106210
HP:0009918	Ectopia pupillae	5080	PAX6	OMIM:106210
HP:0009918	Ectopia pupillae	30813	VSX1	ORPHA:98973
HP:0009918	Ectopia pupillae	1296	COL8A2	ORPHA:98973
HP:0009921	Duane anomaly	10059	DNM1L	ORPHA:98673
HP:0009921	Duane anomaly	4976	OPA1	ORPHA:98673
HP:0009921	Duane anomaly	1123	CHN1	OMIM:604356
HP:0009921	Duane anomaly	170302	ARX	OMIM:300215
HP:0009921	Duane anomaly	57007	ACKR3	OMIM:619215
HP:0009921	Duane anomaly	92002	CCNQ	OMIM:300707
HP:0009921	Duane anomaly	10054	UBA2	OMIM:619959
HP:0009921	Duane anomaly	9969	MED13	OMIM:618009
HP:0009921	Duane anomaly	57167	SALL4	OMIM:607323
HP:0009921	Duane anomaly	63895	PIEZO2	OMIM:108145
HP:0009921	Duane anomaly	79848	CSPP1	ORPHA:397715
HP:0009921	Duane anomaly	9786	KIAA0586	ORPHA:397715
HP:0009921	Duane anomaly	6299	SALL1	OMIM:107480
HP:0009921	Duane anomaly	3198	HOXA1	OMIM:601536
HP:0009921	Duane anomaly	4330	MN1	OMIM:618774
HP:0009921	Duane anomaly	9935	MAFB	OMIM:617041
HP:0009921	Duane anomaly	153241	CEP120	OMIM:617761
HP:0009921	Duane anomaly	2702	GJA5	OMIM:612474
HP:0009921	Duane anomaly	2703	GJA8	OMIM:612474
HP:0009921	Duane anomaly	57178	ZMIZ1	OMIM:618659
HP:0009921	Duane anomaly	84570	COL25A1	OMIM:616219
HP:0009921	Duane anomaly	3781	KCNN2	OMIM:619724
HP:0009921	Duane anomaly	26012	NSMF	OMIM:614838
HP:0005338	Sparse lateral eyebrow	3981	LIG4	ORPHA:235
HP:0005338	Sparse lateral eyebrow	54888	NSUN2	ORPHA:235
HP:0005338	Sparse lateral eyebrow	8367	H4C5	OMIM:619950
HP:0005338	Sparse lateral eyebrow	126695	KDF1	OMIM:617337
HP:0005338	Sparse lateral eyebrow	80232	WDR26	OMIM:617616
HP:0005338	Sparse lateral eyebrow	80232	WDR26	ORPHA:513456
HP:0005338	Sparse lateral eyebrow	128178	EDARADD	OMIM:614941
HP:0005338	Sparse lateral eyebrow	5361	PLXNA1	OMIM:619955
HP:0005338	Sparse lateral eyebrow	79650	USB1	OMIM:604173
HP:0005338	Sparse lateral eyebrow	57511	COG6	ORPHA:363523
HP:0005338	Sparse lateral eyebrow	9578	CDC42BPB	OMIM:619841
HP:0005338	Sparse lateral eyebrow	10026	PIGK	OMIM:618879
HP:0005338	Sparse lateral eyebrow	51111	KMT5B	OMIM:617788
HP:0005338	Sparse lateral eyebrow	8085	KMT2D	ORPHA:2322
HP:0005338	Sparse lateral eyebrow	7403	KDM6A	ORPHA:2322
HP:0005338	Sparse lateral eyebrow	7403	KDM6A	OMIM:300867
HP:0005338	Sparse lateral eyebrow	5500	PPP1CB	OMIM:617506
HP:0005338	Sparse lateral eyebrow	79971	WLS	OMIM:619648
HP:0005338	Sparse lateral eyebrow	5818	NECTIN1	ORPHA:3253
HP:0005338	Sparse lateral eyebrow	112802	KRT71	ORPHA:170
HP:0005338	Sparse lateral eyebrow	121391	KRT74	ORPHA:170
HP:0005338	Sparse lateral eyebrow	200879	LIPH	ORPHA:170
HP:0005338	Sparse lateral eyebrow	10161	LPAR6	ORPHA:170
HP:0005338	Sparse lateral eyebrow	147183	KRT25	ORPHA:170
HP:0005338	Sparse lateral eyebrow	10084	PQBP1	OMIM:309500
HP:0005338	Sparse lateral eyebrow	3190	HNRNPK	OMIM:616580
HP:0005338	Sparse lateral eyebrow	92255	LMBRD2	OMIM:619694
HP:0005338	Sparse lateral eyebrow	10265	IRX5	OMIM:611174
HP:0005338	Sparse lateral eyebrow	11253	MAN1B1	OMIM:614202
HP:0005338	Sparse lateral eyebrow	9487	PIGL	OMIM:280000
HP:0005338	Sparse lateral eyebrow	545	ATR	OMIM:614564
HP:0005338	Sparse lateral eyebrow	23184	MESD	OMIM:618644
HP:0005338	Sparse lateral eyebrow	117581	TWIST2	ORPHA:1807
HP:0005338	Sparse lateral eyebrow	6926	TBX3	OMIM:181450
HP:0005338	Sparse lateral eyebrow	10524	KAT5	OMIM:619103
HP:0005338	Sparse lateral eyebrow	341208	HEPHL1	OMIM:261990
HP:0005338	Sparse lateral eyebrow	7227	TRPS1	OMIM:190350
HP:0005338	Sparse lateral eyebrow	7227	TRPS1	OMIM:190351
HP:0005338	Sparse lateral eyebrow	5813	PURA	ORPHA:314655
HP:0009924	Aplasia/Hypoplasia involving the nose	55217	TMLHE	OMIM:300872
HP:0009924	Aplasia/Hypoplasia involving the nose	3763	KCNJ6	ORPHA:435628
HP:0009924	Aplasia/Hypoplasia involving the nose	3763	KCNJ6	OMIM:614098
HP:0009924	Aplasia/Hypoplasia involving the nose	4621	MYH3	ORPHA:2053
HP:0009924	Aplasia/Hypoplasia involving the nose	4621	MYH3	OMIM:193700
HP:0009924	Aplasia/Hypoplasia involving the nose	259232	NALCN	ORPHA:2053
HP:0009924	Aplasia/Hypoplasia involving the nose	1281	COL3A1	OMIM:618343
HP:0009924	Aplasia/Hypoplasia involving the nose	341640	FREM2	ORPHA:2052
HP:0009924	Aplasia/Hypoplasia involving the nose	341640	FREM2	OMIM:617666
HP:0009924	Aplasia/Hypoplasia involving the nose	80144	FRAS1	ORPHA:2052
HP:0009924	Aplasia/Hypoplasia involving the nose	80144	FRAS1	OMIM:219000
HP:0009924	Aplasia/Hypoplasia involving the nose	23426	GRIP1	ORPHA:2052
HP:0009924	Aplasia/Hypoplasia involving the nose	340533	NEXMIF	OMIM:300912
HP:0009924	Aplasia/Hypoplasia involving the nose	1859	DYRK1A	ORPHA:268261
HP:0009924	Aplasia/Hypoplasia involving the nose	29123	ANKRD11	ORPHA:2332
HP:0009924	Aplasia/Hypoplasia involving the nose	29123	ANKRD11	OMIM:148050
HP:0009924	Aplasia/Hypoplasia involving the nose	9759	HDAC4	ORPHA:1001
HP:0009924	Aplasia/Hypoplasia involving the nose	8092	ALX1	OMIM:613456
HP:0009924	Aplasia/Hypoplasia involving the nose	8092	ALX1	ORPHA:306542
HP:0009924	Aplasia/Hypoplasia involving the nose	100151683	RNU4ATAC	ORPHA:353298
HP:0009924	Aplasia/Hypoplasia involving the nose	100151683	RNU4ATAC	OMIM:616651
HP:0009924	Aplasia/Hypoplasia involving the nose	79650	USB1	OMIM:604173
HP:0009924	Aplasia/Hypoplasia involving the nose	3190	HNRNPK	ORPHA:453504
HP:0009924	Aplasia/Hypoplasia involving the nose	3190	HNRNPK	OMIM:616580
HP:0009924	Aplasia/Hypoplasia involving the nose	3190	HNRNPK	ORPHA:352665
HP:0009924	Aplasia/Hypoplasia involving the nose	4784	NFIX	ORPHA:447980
HP:0009924	Aplasia/Hypoplasia involving the nose	5631	PRPS1	ORPHA:423479
HP:0009924	Aplasia/Hypoplasia involving the nose	197131	UBR1	OMIM:243800
HP:0009924	Aplasia/Hypoplasia involving the nose	197131	UBR1	ORPHA:2315
HP:0009924	Aplasia/Hypoplasia involving the nose	10847	SRCAP	OMIM:136140
HP:0009924	Aplasia/Hypoplasia involving the nose	91179	SCARF2	OMIM:600920
HP:0009924	Aplasia/Hypoplasia involving the nose	3020	H3-3A	OMIM:619720
HP:0009924	Aplasia/Hypoplasia involving the nose	613	BCR	ORPHA:261330
HP:0009924	Aplasia/Hypoplasia involving the nose	1399	CRKL	ORPHA:261330
HP:0009924	Aplasia/Hypoplasia involving the nose	5594	MAPK1	ORPHA:261330
HP:0009924	Aplasia/Hypoplasia involving the nose	29998	BICRA	OMIM:619325
HP:0009924	Aplasia/Hypoplasia involving the nose	80816	ASXL3	OMIM:615485
HP:0009924	Aplasia/Hypoplasia involving the nose	80816	ASXL3	ORPHA:352577
HP:0009924	Aplasia/Hypoplasia involving the nose	10978	CLP1	ORPHA:411493
HP:0009924	Aplasia/Hypoplasia involving the nose	10978	CLP1	OMIM:615803
HP:0009924	Aplasia/Hypoplasia involving the nose	54101	RIPK4	ORPHA:1234
HP:0009924	Aplasia/Hypoplasia involving the nose	54101	RIPK4	OMIM:263650
HP:0009924	Aplasia/Hypoplasia involving the nose	526	ATP6V1B2	OMIM:616455
HP:0009924	Aplasia/Hypoplasia involving the nose	5831	PYCR1	OMIM:614438
HP:0009924	Aplasia/Hypoplasia involving the nose	5339	PLEC	OMIM:612138
HP:0009924	Aplasia/Hypoplasia involving the nose	150468	CKAP2L	ORPHA:3255
HP:0009924	Aplasia/Hypoplasia involving the nose	150468	CKAP2L	OMIM:272440
HP:0009924	Aplasia/Hypoplasia involving the nose	1908	EDN3	ORPHA:897
HP:0009924	Aplasia/Hypoplasia involving the nose	4286	MITF	ORPHA:897
HP:0009924	Aplasia/Hypoplasia involving the nose	4286	MITF	OMIM:193510
HP:0009924	Aplasia/Hypoplasia involving the nose	1910	EDNRB	ORPHA:897
HP:0009924	Aplasia/Hypoplasia involving the nose	6663	SOX10	ORPHA:897
HP:0009924	Aplasia/Hypoplasia involving the nose	6663	SOX10	ORPHA:163746
HP:0009924	Aplasia/Hypoplasia involving the nose	6595	SMARCA2	OMIM:619293
HP:0009924	Aplasia/Hypoplasia involving the nose	1896	EDA	OMIM:305100
HP:0009924	Aplasia/Hypoplasia involving the nose	284058	KANSL1	ORPHA:363958
HP:0009924	Aplasia/Hypoplasia involving the nose	284058	KANSL1	ORPHA:363965
HP:0009924	Aplasia/Hypoplasia involving the nose	8260	NAA10	OMIM:300855
HP:0009924	Aplasia/Hypoplasia involving the nose	8260	NAA10	ORPHA:276432
HP:0009924	Aplasia/Hypoplasia involving the nose	51109	RDH11	OMIM:616108
HP:0009924	Aplasia/Hypoplasia involving the nose	51109	RDH11	ORPHA:436245
HP:0009924	Aplasia/Hypoplasia involving the nose	2248	FGF3	ORPHA:90024
HP:0009924	Aplasia/Hypoplasia involving the nose	2697	GJA1	ORPHA:2710
HP:0009924	Aplasia/Hypoplasia involving the nose	2697	GJA1	OMIM:164200
HP:0009924	Aplasia/Hypoplasia involving the nose	2697	GJA1	OMIM:257850
HP:0009924	Aplasia/Hypoplasia involving the nose	64327	LMBR1	OMIM:135750
HP:0009924	Aplasia/Hypoplasia involving the nose	64327	LMBR1	ORPHA:2378
HP:0009924	Aplasia/Hypoplasia involving the nose	9401	RECQL4	OMIM:218600
HP:0009924	Aplasia/Hypoplasia involving the nose	79796	ALG9	OMIM:263210
HP:0009924	Aplasia/Hypoplasia involving the nose	79796	ALG9	ORPHA:79328
HP:0009924	Aplasia/Hypoplasia involving the nose	3188	HNRNPH2	OMIM:300986
HP:0009924	Aplasia/Hypoplasia involving the nose	5813	PURA	ORPHA:438216
HP:0009924	Aplasia/Hypoplasia involving the nose	5813	PURA	OMIM:616158
HP:0009924	Aplasia/Hypoplasia involving the nose	55012	PPP2R3C	OMIM:618419
HP:0009924	Aplasia/Hypoplasia involving the nose	4598	MVK	OMIM:610377
HP:0009924	Aplasia/Hypoplasia involving the nose	5000	ORC4	OMIM:613800
HP:0009924	Aplasia/Hypoplasia involving the nose	25942	SIN3A	OMIM:613406
HP:0009924	Aplasia/Hypoplasia involving the nose	1499	CTNNB1	ORPHA:404473
HP:0009924	Aplasia/Hypoplasia involving the nose	55699	IARS2	OMIM:616007
HP:0009924	Aplasia/Hypoplasia involving the nose	7204	TRIO	OMIM:618825
HP:0009924	Aplasia/Hypoplasia involving the nose	117581	TWIST2	OMIM:209885
HP:0009924	Aplasia/Hypoplasia involving the nose	117581	TWIST2	ORPHA:920
HP:0009924	Aplasia/Hypoplasia involving the nose	79005	SCNM1	OMIM:620107
HP:0009924	Aplasia/Hypoplasia involving the nose	10283	CWC27	OMIM:250410
HP:0009924	Aplasia/Hypoplasia involving the nose	10283	CWC27	ORPHA:166035
HP:0009924	Aplasia/Hypoplasia involving the nose	8626	TP63	OMIM:129400
HP:0009924	Aplasia/Hypoplasia involving the nose	157570	ESCO2	ORPHA:3103
HP:0009924	Aplasia/Hypoplasia involving the nose	157570	ESCO2	OMIM:268300
HP:0009924	Aplasia/Hypoplasia involving the nose	8085	KMT2D	OMIM:620186
HP:0009924	Aplasia/Hypoplasia involving the nose	2132	EXT2	ORPHA:52022
HP:0009924	Aplasia/Hypoplasia involving the nose	60529	ALX4	ORPHA:52022
HP:0009924	Aplasia/Hypoplasia involving the nose	60529	ALX4	ORPHA:228390
HP:0009924	Aplasia/Hypoplasia involving the nose	51317	PHF21A	ORPHA:52022
HP:0009924	Aplasia/Hypoplasia involving the nose	10907	TXNL4A	OMIM:608572
HP:0009924	Aplasia/Hypoplasia involving the nose	8567	MADD	OMIM:619005
HP:0009924	Aplasia/Hypoplasia involving the nose	10651	MTX2	OMIM:619127
HP:0009924	Aplasia/Hypoplasia involving the nose	4256	MGP	ORPHA:85202
HP:0009924	Aplasia/Hypoplasia involving the nose	8481	OFD1	OMIM:311200
HP:0009924	Aplasia/Hypoplasia involving the nose	8481	OFD1	ORPHA:2750
HP:0009924	Aplasia/Hypoplasia involving the nose	5500	PPP1CB	OMIM:617506
HP:0009924	Aplasia/Hypoplasia involving the nose	2542	SLC37A4	OMIM:619525
HP:0009924	Aplasia/Hypoplasia involving the nose	7291	TWIST1	OMIM:617746
HP:0009924	Aplasia/Hypoplasia involving the nose	9993	DGCR2	OMIM:192430
HP:0009924	Aplasia/Hypoplasia involving the nose	8220	ESS2	OMIM:192430
HP:0009924	Aplasia/Hypoplasia involving the nose	8214	DGCR6	OMIM:192430
HP:0009924	Aplasia/Hypoplasia involving the nose	54487	DGCR8	OMIM:192430
HP:0009924	Aplasia/Hypoplasia involving the nose	6899	TBX1	OMIM:192430
HP:0009924	Aplasia/Hypoplasia involving the nose	5077	PAX3	ORPHA:894
HP:0009924	Aplasia/Hypoplasia involving the nose	5077	PAX3	OMIM:193500
HP:0009924	Aplasia/Hypoplasia involving the nose	80267	EDEM3	OMIM:619493
HP:0009924	Aplasia/Hypoplasia involving the nose	5295	PIK3R1	OMIM:269880
HP:0009924	Aplasia/Hypoplasia involving the nose	54888	NSUN2	OMIM:611091
HP:0009924	Aplasia/Hypoplasia involving the nose	1984	EIF5A	OMIM:619376
HP:0009924	Aplasia/Hypoplasia involving the nose	5116	PCNT	ORPHA:2637
HP:0009924	Aplasia/Hypoplasia involving the nose	84700	MYO18B	OMIM:616549
HP:0009924	Aplasia/Hypoplasia involving the nose	55835	CENPJ	OMIM:613676
HP:0009924	Aplasia/Hypoplasia involving the nose	1387	CREBBP	OMIM:618332
HP:0009924	Aplasia/Hypoplasia involving the nose	101929726	MYMX	OMIM:619941
HP:0009924	Aplasia/Hypoplasia involving the nose	672	BRCA1	OMIM:617883
HP:0009924	Aplasia/Hypoplasia involving the nose	4921	DDR2	OMIM:618175
HP:0009924	Aplasia/Hypoplasia involving the nose	6878	TAF6	OMIM:617126
HP:0009924	Aplasia/Hypoplasia involving the nose	51053	GMNN	OMIM:616835
HP:0009924	Aplasia/Hypoplasia involving the nose	1642	DDB1	OMIM:619426
HP:0009924	Aplasia/Hypoplasia involving the nose	7319	UBE2A	ORPHA:163956
HP:0009924	Aplasia/Hypoplasia involving the nose	6664	SOX11	OMIM:615866
HP:0009924	Aplasia/Hypoplasia involving the nose	7227	TRPS1	OMIM:190351
HP:0009924	Aplasia/Hypoplasia involving the nose	5573	PRKAR1A	ORPHA:280651
HP:0009924	Aplasia/Hypoplasia involving the nose	5144	PDE4D	ORPHA:280651
HP:0009924	Aplasia/Hypoplasia involving the nose	124590	USH1G	OMIM:606943
HP:0009924	Aplasia/Hypoplasia involving the nose	4796	TONSL	ORPHA:93357
HP:0009924	Aplasia/Hypoplasia involving the nose	5727	PTCH1	OMIM:610828
HP:0009924	Aplasia/Hypoplasia involving the nose	9241	NOG	OMIM:186500
HP:0009924	Aplasia/Hypoplasia involving the nose	2317	FLNB	OMIM:112310
HP:0009924	Aplasia/Hypoplasia involving the nose	7050	TGIF1	OMIM:142946
HP:0009924	Aplasia/Hypoplasia involving the nose	6496	SIX3	OMIM:157170
HP:0009924	Aplasia/Hypoplasia involving the nose	4000	LMNA	ORPHA:1662
HP:0009924	Aplasia/Hypoplasia involving the nose	10269	ZMPSTE24	ORPHA:1662
HP:0009924	Aplasia/Hypoplasia involving the nose	5396	PRRX1	ORPHA:990
HP:0009924	Aplasia/Hypoplasia involving the nose	5015	OTX2	ORPHA:990
HP:0009924	Aplasia/Hypoplasia involving the nose	2690	GHR	ORPHA:633
HP:0009924	Aplasia/Hypoplasia involving the nose	7473	WNT3	ORPHA:3301
HP:0009924	Aplasia/Hypoplasia involving the nose	340419	RSPO2	ORPHA:3301
HP:0009924	Aplasia/Hypoplasia involving the nose	10735	STAG2	OMIM:301043
HP:0009924	Aplasia/Hypoplasia involving the nose	23347	SMCHD1	OMIM:603457
HP:0002761	Generalized joint laxity	1311	COMP	ORPHA:750
HP:0002761	Generalized joint laxity	1311	COMP	OMIM:132400
HP:0002761	Generalized joint laxity	9361	LONP1	OMIM:600373
HP:0002761	Generalized joint laxity	22827	PUF60	ORPHA:508498
HP:0002761	Generalized joint laxity	2260	FGFR1	ORPHA:432
HP:0002761	Generalized joint laxity	81848	SPRY4	ORPHA:432
HP:0002761	Generalized joint laxity	128674	PROKR2	ORPHA:432
HP:0002761	Generalized joint laxity	2253	FGF8	ORPHA:432
HP:0002761	Generalized joint laxity	60675	PROK2	ORPHA:432
HP:0002761	Generalized joint laxity	55636	CHD7	ORPHA:432
HP:0002761	Generalized joint laxity	6870	TACR3	ORPHA:432
HP:0002761	Generalized joint laxity	1848	DUSP6	ORPHA:432
HP:0002761	Generalized joint laxity	26012	NSMF	ORPHA:432
HP:0002761	Generalized joint laxity	55717	WDR11	ORPHA:432
HP:0002761	Generalized joint laxity	9394	HS6ST1	ORPHA:432
HP:0002761	Generalized joint laxity	2796	GNRH1	ORPHA:432
HP:0002761	Generalized joint laxity	2798	GNRHR	ORPHA:432
HP:0002761	Generalized joint laxity	84634	KISS1R	ORPHA:432
HP:0002761	Generalized joint laxity	6866	TAC3	ORPHA:432
HP:0002761	Generalized joint laxity	8822	FGF17	ORPHA:432
HP:0002761	Generalized joint laxity	3814	KISS1	ORPHA:432
HP:0002761	Generalized joint laxity	3835	KIF22	ORPHA:93360
HP:0002761	Generalized joint laxity	10717	AP4B1	ORPHA:280763
HP:0002761	Generalized joint laxity	9179	AP4M1	ORPHA:280763
HP:0002761	Generalized joint laxity	11154	AP4S1	ORPHA:280763
HP:0002761	Generalized joint laxity	23431	AP4E1	ORPHA:280763
HP:0002761	Generalized joint laxity	1290	COL5A2	OMIM:130010
HP:0002761	Generalized joint laxity	1290	COL5A2	ORPHA:287
HP:0002761	Generalized joint laxity	23545	ATP6V0A2	ORPHA:357074
HP:0002761	Generalized joint laxity	23545	ATP6V0A2	ORPHA:2834
HP:0002761	Generalized joint laxity	523	ATP6V1A	ORPHA:357074
HP:0002761	Generalized joint laxity	529	ATP6V1E1	ORPHA:357074
HP:0002761	Generalized joint laxity	10526	IPO8	OMIM:619472
HP:0002761	Generalized joint laxity	165	AEBP1	OMIM:618000
HP:0002761	Generalized joint laxity	113189	CHST14	ORPHA:2953
HP:0002761	Generalized joint laxity	113189	CHST14	OMIM:601776
HP:0002761	Generalized joint laxity	29940	DSE	ORPHA:2953
HP:0002761	Generalized joint laxity	9968	MED12	ORPHA:93932
HP:0002761	Generalized joint laxity	2261	FGFR3	OMIM:100800
HP:0002761	Generalized joint laxity	23314	SATB2	ORPHA:251028
HP:0002761	Generalized joint laxity	4796	TONSL	ORPHA:93357
HP:0002761	Generalized joint laxity	5351	PLOD1	ORPHA:1900
HP:0002761	Generalized joint laxity	1277	COL1A1	ORPHA:287
HP:0002761	Generalized joint laxity	1289	COL5A1	ORPHA:287
HP:0002761	Generalized joint laxity	715	C1R	OMIM:130080
HP:0002761	Generalized joint laxity	55023	PHIP	ORPHA:589905
HP:0002761	Generalized joint laxity	6999	TDO2	OMIM:600627
HP:0002761	Generalized joint laxity	1280	COL2A1	ORPHA:85198
HP:0002761	Generalized joint laxity	55784	MCTP2	ORPHA:1596
HP:0002761	Generalized joint laxity	55154	MSTO1	ORPHA:502423
HP:0002761	Generalized joint laxity	871	SERPINH1	OMIM:613848
HP:0002762	Multiple exostoses	2131	EXT1	OMIM:133700
HP:0002762	Multiple exostoses	2132	EXT2	OMIM:133701
HP:0002762	Multiple exostoses	4488	MSX2	ORPHA:60015
HP:0002762	Multiple exostoses	60529	ALX4	ORPHA:60015
HP:0002762	Multiple exostoses	6473	SHOX	OMIM:127300
HP:0002762	Multiple exostoses	7227	TRPS1	ORPHA:502
HP:0002762	Multiple exostoses	5781	PTPN11	OMIM:156250
HP:0002763	Abnormal cartilage morphology	2131	EXT1	ORPHA:321
HP:0002763	Abnormal cartilage morphology	2132	EXT2	ORPHA:321
HP:0002763	Abnormal cartilage morphology	6399	TRAPPC2	ORPHA:93284
HP:0002763	Abnormal cartilage morphology	2260	FGFR1	ORPHA:2396
HP:0002763	Abnormal cartilage morphology	3845	KRAS	ORPHA:2396
HP:0002763	Abnormal cartilage morphology	5745	PTH1R	ORPHA:296
HP:0002763	Abnormal cartilage morphology	3418	IDH2	ORPHA:296
HP:0002763	Abnormal cartilage morphology	3417	IDH1	ORPHA:296
HP:0002763	Abnormal cartilage morphology	5828	PEX2	OMIM:614866
HP:0002763	Abnormal cartilage morphology	5830	PEX5	OMIM:214110
HP:0002763	Abnormal cartilage morphology	26137	ZBTB20	OMIM:259050
HP:0002763	Abnormal cartilage morphology	26137	ZBTB20	ORPHA:3042
HP:0002763	Abnormal cartilage morphology	5167	ENPP1	ORPHA:51608
HP:0002763	Abnormal cartilage morphology	368	ABCC6	ORPHA:51608
HP:0002763	Abnormal cartilage morphology	5727	PTCH1	OMIM:610828
HP:0002763	Abnormal cartilage morphology	7050	TGIF1	OMIM:142946
HP:0002763	Abnormal cartilage morphology	6496	SIX3	OMIM:157170
HP:0002763	Abnormal cartilage morphology	5781	PTPN11	OMIM:156250
HP:0002763	Abnormal cartilage morphology	5781	PTPN11	ORPHA:2499
HP:0002763	Abnormal cartilage morphology	84172	POLR1B	ORPHA:861
HP:0002763	Abnormal cartilage morphology	9533	POLR1C	ORPHA:861
HP:0002763	Abnormal cartilage morphology	51082	POLR1D	ORPHA:861
HP:0002763	Abnormal cartilage morphology	6949	TCOF1	ORPHA:861
HP:0002763	Abnormal cartilage morphology	3930	LBR	OMIM:215140
HP:0002763	Abnormal cartilage morphology	1906	EDN1	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	5332	PLCB4	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	2773	GNAI3	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	58499	ZNF462	OMIM:618619
HP:0002763	Abnormal cartilage morphology	7291	TWIST1	ORPHA:794
HP:0002763	Abnormal cartilage morphology	7291	TWIST1	OMIM:101400
HP:0002763	Abnormal cartilage morphology	2263	FGFR2	ORPHA:794
HP:0002763	Abnormal cartilage morphology	2263	FGFR2	OMIM:101400
HP:0002763	Abnormal cartilage morphology	2261	FGFR3	ORPHA:794
HP:0002763	Abnormal cartilage morphology	63932	STEEP1	OMIM:301013
HP:0002763	Abnormal cartilage morphology	9653	HS2ST1	OMIM:619194
HP:0002763	Abnormal cartilage morphology	22907	DHX30	OMIM:617804
HP:0002763	Abnormal cartilage morphology	7468	NSD2	OMIM:619695
HP:0002763	Abnormal cartilage morphology	26123	TCTN3	ORPHA:2753
HP:0002763	Abnormal cartilage morphology	2317	FLNB	OMIM:108720
HP:0002763	Abnormal cartilage morphology	1836	SLC26A2	OMIM:256050
HP:0002763	Abnormal cartilage morphology	3081	HGD	ORPHA:56
HP:0002763	Abnormal cartilage morphology	4921	DDR2	OMIM:271665
HP:0002763	Abnormal cartilage morphology	4982	TNFRSF11B	ORPHA:1416
HP:0002763	Abnormal cartilage morphology	56172	ANKH	ORPHA:1416
HP:0002763	Abnormal cartilage morphology	4256	MGP	ORPHA:85202
HP:0002763	Abnormal cartilage morphology	2157	F8	ORPHA:169805
HP:0002763	Abnormal cartilage morphology	3106	HLA-B	ORPHA:29207
HP:0002763	Abnormal cartilage morphology	1280	COL2A1	ORPHA:2380
HP:0002763	Abnormal cartilage morphology	7317	UBA1	OMIM:301054
HP:0002763	Abnormal cartilage morphology	22827	PUF60	ORPHA:508488
HP:0002764	Stippled chondral calcification	5828	PEX2	OMIM:614866
HP:0002764	Stippled chondral calcification	5830	PEX5	OMIM:214110
HP:0002766	Relatively short spine	59341	TRPV4	OMIM:156530
HP:0009926	Epiphora	7298	TYMS	OMIM:620040
HP:0009926	Epiphora	3123	HLA-DRB1	OMIM:181000
HP:0009926	Epiphora	26277	TINF2	OMIM:613990
HP:0009926	Epiphora	64218	SEMA4A	OMIM:610283
HP:0009926	Epiphora	55651	NHP2	OMIM:224230
HP:0009926	Epiphora	55505	NOP10	OMIM:224230
HP:0009926	Epiphora	114548	NLRP3	OMIM:148200
HP:0009926	Epiphora	4035	LRP1	OMIM:604093
HP:0009926	Epiphora	3850	KRT3	OMIM:618767
HP:0009926	Epiphora	1736	DKC1	OMIM:305000
HP:0009926	Epiphora	4693	NDP	ORPHA:91495
HP:0009926	Epiphora	220202	ATOH7	ORPHA:91495
HP:0009926	Epiphora	8322	FZD4	ORPHA:91495
HP:0009926	Epiphora	1308	COL17A1	ORPHA:293381
HP:0009926	Epiphora	1308	COL17A1	OMIM:122400
HP:0009926	Epiphora	6720	SREBF1	OMIM:158310
HP:0009926	Epiphora	5073	PARN	OMIM:616353
HP:0009926	Epiphora	3859	KRT12	OMIM:122100
HP:0009926	Epiphora	58495	OVOL2	OMIM:122000
HP:0009926	Epiphora	2263	FGFR2	ORPHA:2363
HP:0009926	Epiphora	2261	FGFR3	ORPHA:2363
HP:0009926	Epiphora	2255	FGF10	ORPHA:2363
HP:0009926	Epiphora	6392	SDHD	ORPHA:100093
HP:0009926	Epiphora	23516	SLC39A14	OMIM:144755
HP:0009926	Epiphora	3321	IGSF3	OMIM:149700
HP:0011224	Ablepharon	29968	PSAT1	OMIM:616038
HP:0011224	Ablepharon	117581	TWIST2	ORPHA:1231
HP:0011224	Ablepharon	117581	TWIST2	OMIM:200110
HP:0011224	Ablepharon	117581	TWIST2	ORPHA:920
HP:0011224	Ablepharon	54101	RIPK4	OMIM:263650
HP:0011224	Ablepharon	25885	POLR1A	OMIM:616462
HP:0011224	Ablepharon	26227	PHGDH	OMIM:256520
HP:0009928	Thick nasal alae	6197	RPS6KA3	OMIM:303600
HP:0009928	Thick nasal alae	6197	RPS6KA3	ORPHA:192
HP:0009928	Thick nasal alae	8367	H4C5	OMIM:619950
HP:0009928	Thick nasal alae	8812	CCNK	OMIM:618147
HP:0009928	Thick nasal alae	5977	DPF2	OMIM:618027
HP:0009928	Thick nasal alae	5977	DPF2	ORPHA:1465
HP:0009928	Thick nasal alae	284058	KANSL1	ORPHA:363958
HP:0009928	Thick nasal alae	284058	KANSL1	ORPHA:363965
HP:0009928	Thick nasal alae	23461	ABCA5	OMIM:135400
HP:0009928	Thick nasal alae	4763	NF1	ORPHA:139474
HP:0009928	Thick nasal alae	6597	SMARCA4	ORPHA:1465
HP:0009928	Thick nasal alae	6597	SMARCA4	OMIM:614609
HP:0009928	Thick nasal alae	6598	SMARCB1	ORPHA:1465
HP:0009928	Thick nasal alae	6659	SOX4	ORPHA:1465
HP:0009928	Thick nasal alae	8289	ARID1A	ORPHA:1465
HP:0009928	Thick nasal alae	6601	SMARCC2	ORPHA:1465
HP:0009928	Thick nasal alae	6602	SMARCD1	ORPHA:1465
HP:0009928	Thick nasal alae	57492	ARID1B	ORPHA:1465
HP:0009928	Thick nasal alae	196528	ARID2	ORPHA:1465
HP:0009928	Thick nasal alae	6605	SMARCE1	ORPHA:1465
HP:0009928	Thick nasal alae	6605	SMARCE1	OMIM:616938
HP:0009928	Thick nasal alae	6664	SOX11	ORPHA:1465
HP:0009928	Thick nasal alae	387	RHOA	OMIM:618727
HP:0009928	Thick nasal alae	79005	SCNM1	OMIM:620107
HP:0009928	Thick nasal alae	57688	ZSWIM6	ORPHA:1827
HP:0009928	Thick nasal alae	415	ARSL	ORPHA:79345
HP:0009928	Thick nasal alae	6513	SLC2A1	ORPHA:1942
HP:0009928	Thick nasal alae	8831	SYNGAP1	ORPHA:1942
HP:0009928	Thick nasal alae	1173	AP2M1	ORPHA:1942
HP:0009928	Thick nasal alae	6323	SCN1A	ORPHA:1942
HP:0009928	Thick nasal alae	340533	NEXMIF	ORPHA:1942
HP:0009928	Thick nasal alae	1106	CHD2	ORPHA:1942
HP:0009928	Thick nasal alae	6529	SLC6A1	ORPHA:1942
HP:0009928	Thick nasal alae	5286	PIK3C2A	ORPHA:557003
HP:0009928	Thick nasal alae	5728	PTEN	ORPHA:744
HP:0009928	Thick nasal alae	207	AKT1	ORPHA:744
HP:0009928	Thick nasal alae	2131	EXT1	ORPHA:502
HP:0009928	Thick nasal alae	7227	TRPS1	ORPHA:502
HP:0009928	Thick nasal alae	3756	KCNH1	OMIM:611816
HP:0009928	Thick nasal alae	3756	KCNH1	ORPHA:420561
HP:0009928	Thick nasal alae	6595	SMARCA2	ORPHA:3051
HP:0009928	Thick nasal alae	9968	MED12	ORPHA:293707
HP:0009928	Thick nasal alae	84168	ANTXR1	ORPHA:2067
HP:0009928	Thick nasal alae	26057	ANKRD17	OMIM:619504
HP:0009927	Aplasia of the nose	10735	STAG2	OMIM:301043
HP:0009927	Aplasia of the nose	23347	SMCHD1	OMIM:603457
HP:0009929	Abnormal columella morphology	55777	MBD5	OMIM:156200
HP:0009929	Abnormal columella morphology	10664	CTCF	ORPHA:363611
HP:0009929	Abnormal columella morphology	4123	MAN2C1	OMIM:619775
HP:0009929	Abnormal columella morphology	259232	NALCN	OMIM:616266
HP:0009929	Abnormal columella morphology	8260	NAA10	OMIM:300855
HP:0009929	Abnormal columella morphology	8260	NAA10	ORPHA:276432
HP:0009929	Abnormal columella morphology	1387	CREBBP	OMIM:180849
HP:0009929	Abnormal columella morphology	1387	CREBBP	OMIM:618332
HP:0009929	Abnormal columella morphology	2033	EP300	OMIM:180849
HP:0009929	Abnormal columella morphology	64327	LMBR1	ORPHA:2378
HP:0009929	Abnormal columella morphology	1788	DNMT3A	OMIM:615879
HP:0009929	Abnormal columella morphology	1788	DNMT3A	ORPHA:404443
HP:0009929	Abnormal columella morphology	79005	SCNM1	OMIM:620107
HP:0009929	Abnormal columella morphology	145173	B3GLCT	ORPHA:709
HP:0009929	Abnormal columella morphology	1063	CENPF	OMIM:243605
HP:0009929	Abnormal columella morphology	415	ARSL	ORPHA:79345
HP:0009929	Abnormal columella morphology	71	ACTG1	ORPHA:2995
HP:0009929	Abnormal columella morphology	60	ACTB	ORPHA:2995
HP:0009929	Abnormal columella morphology	3756	KCNH1	OMIM:611816
HP:0009929	Abnormal columella morphology	6469	SHH	OMIM:142945
HP:0009929	Abnormal columella morphology	257	ALX3	OMIM:136760
HP:0009929	Abnormal columella morphology	284252	KCTD1	OMIM:181270
HP:0009929	Abnormal columella morphology	113189	CHST14	OMIM:601776
HP:0009929	Abnormal columella morphology	2077	ERF	OMIM:617180
HP:0009929	Abnormal columella morphology	80816	ASXL3	OMIM:615485
HP:0009929	Abnormal columella morphology	7403	KDM6A	OMIM:300867
HP:0009929	Abnormal columella morphology	7403	KDM6A	ORPHA:2322
HP:0009929	Abnormal columella morphology	8085	KMT2D	ORPHA:2322
HP:0009929	Abnormal columella morphology	7291	TWIST1	OMIM:617746
HP:0009929	Abnormal columella morphology	55623	THUMPD1	OMIM:619989
HP:0009929	Abnormal columella morphology	4297	KMT2A	OMIM:605130
HP:0009929	Abnormal columella morphology	1182	CLCN3	OMIM:619512
HP:0009929	Abnormal columella morphology	10765	KDM5B	OMIM:618109
HP:0009929	Abnormal columella morphology	7204	TRIO	OMIM:618825
HP:0009929	Abnormal columella morphology	6650	CAPN15	OMIM:619318
HP:0009929	Abnormal columella morphology	150468	CKAP2L	OMIM:272440
HP:0009929	Abnormal columella morphology	9839	ZEB2	OMIM:235730
HP:0009929	Abnormal columella morphology	9839	ZEB2	ORPHA:261537
HP:0009929	Abnormal columella morphology	9839	ZEB2	ORPHA:261552
HP:0009929	Abnormal columella morphology	10236	HNRNPR	OMIM:620073
HP:0009929	Abnormal columella morphology	4247	MGAT2	ORPHA:79329
HP:0009929	Abnormal columella morphology	4247	MGAT2	OMIM:212066
HP:0009929	Abnormal columella morphology	9241	NOG	OMIM:184460
HP:0009929	Abnormal columella morphology	79228	THOC6	ORPHA:363444
HP:0009929	Abnormal columella morphology	79228	THOC6	OMIM:613680
HP:0009929	Abnormal columella morphology	7707	ZNF148	OMIM:617260
HP:0009929	Abnormal columella morphology	10847	SRCAP	OMIM:136140
HP:0009929	Abnormal columella morphology	10847	SRCAP	ORPHA:2044
HP:0009929	Abnormal columella morphology	9578	CDC42BPB	OMIM:619841
HP:0009929	Abnormal columella morphology	29998	BICRA	OMIM:619325
HP:0009929	Abnormal columella morphology	3021	H3-3B	OMIM:619721
HP:0009929	Abnormal columella morphology	56098	PCDHGC4	OMIM:619880
HP:0009929	Abnormal columella morphology	83737	ITCH	OMIM:613385
HP:0009929	Abnormal columella morphology	51111	KMT5B	OMIM:617788
HP:0009929	Abnormal columella morphology	3097	HIVEP2	OMIM:616977
HP:0009929	Abnormal columella morphology	29072	SETD2	OMIM:620157
HP:0009929	Abnormal columella morphology	29072	SETD2	OMIM:620155
HP:0009929	Abnormal columella morphology	10978	CLP1	OMIM:615803
HP:0009929	Abnormal columella morphology	57082	KNL1	OMIM:604321
HP:0009929	Abnormal columella morphology	80267	EDEM3	OMIM:619493
HP:0009929	Abnormal columella morphology	6904	TBCD	OMIM:617193
HP:0009929	Abnormal columella morphology	10084	PQBP1	OMIM:309500
HP:0009929	Abnormal columella morphology	9320	TRIP12	OMIM:617752
HP:0009929	Abnormal columella morphology	5879	RAC1	OMIM:617751
HP:0009929	Abnormal columella morphology	5879	RAC1	ORPHA:500159
HP:0009929	Abnormal columella morphology	3899	AFF3	OMIM:619297
HP:0009929	Abnormal columella morphology	51780	KDM3B	OMIM:618846
HP:0009929	Abnormal columella morphology	7994	KAT6A	OMIM:616268
HP:0009929	Abnormal columella morphology	7965	AIMP2	OMIM:618006
HP:0009929	Abnormal columella morphology	1009	CDH11	OMIM:211380
HP:0009929	Abnormal columella morphology	129285	PPP1R21	OMIM:619383
HP:0009929	Abnormal columella morphology	6595	SMARCA2	OMIM:601358
HP:0009929	Abnormal columella morphology	6261	RYR1	OMIM:619542
HP:0009929	Abnormal columella morphology	3977	LIFR	OMIM:601559
HP:0009929	Abnormal columella morphology	1822	ATN1	OMIM:618494
HP:0009929	Abnormal columella morphology	3188	HNRNPH2	OMIM:300986
HP:0009929	Abnormal columella morphology	2702	GJA5	OMIM:612474
HP:0009929	Abnormal columella morphology	2703	GJA8	OMIM:612474
HP:0009929	Abnormal columella morphology	57178	ZMIZ1	OMIM:618659
HP:0009929	Abnormal columella morphology	6878	TAF6	OMIM:617126
HP:0009929	Abnormal columella morphology	7319	UBE2A	ORPHA:163956
HP:0009929	Abnormal columella morphology	6664	SOX11	OMIM:615866
HP:0009929	Abnormal columella morphology	25886	POC1A	OMIM:614813
HP:0009929	Abnormal columella morphology	2697	GJA1	OMIM:164200
HP:0009929	Abnormal columella morphology	1499	CTNNB1	ORPHA:404473
HP:0009929	Abnormal columella morphology	6197	RPS6KA3	OMIM:303600
HP:0009929	Abnormal columella morphology	8367	H4C5	OMIM:619950
HP:0009929	Abnormal columella morphology	23404	EXOSC2	OMIM:617763
HP:0009929	Abnormal columella morphology	60529	ALX4	OMIM:613451
HP:0009929	Abnormal columella morphology	5286	PIK3C2A	OMIM:618440
HP:0009929	Abnormal columella morphology	5286	PIK3C2A	ORPHA:557003
HP:0009929	Abnormal columella morphology	51109	RDH11	ORPHA:436245
HP:0009929	Abnormal columella morphology	57688	ZSWIM6	OMIM:617865
HP:0009929	Abnormal columella morphology	529	ATP6V1E1	OMIM:617402
HP:0009929	Abnormal columella morphology	9759	HDAC4	ORPHA:1001
HP:0009929	Abnormal columella morphology	10283	CWC27	OMIM:250410
HP:0009929	Abnormal columella morphology	10283	CWC27	ORPHA:166035
HP:0009929	Abnormal columella morphology	2313	FLI1	ORPHA:2308
HP:0009929	Abnormal columella morphology	79796	ALG9	ORPHA:79328
HP:0009929	Abnormal columella morphology	54084	TSPEAR	OMIM:618180
HP:0009929	Abnormal columella morphology	8567	MADD	OMIM:619005
HP:0009929	Abnormal columella morphology	23221	RHOBTB2	OMIM:618004
HP:0009929	Abnormal columella morphology	56006	SMG9	OMIM:619995
HP:0009929	Abnormal columella morphology	23483	TGDS	OMIM:616145
HP:0009931	Enlarged naris	4921	DDR2	OMIM:271665
HP:0009931	Enlarged naris	259232	NALCN	ORPHA:371364
HP:0009931	Enlarged naris	259232	NALCN	OMIM:616266
HP:0009931	Enlarged naris	285175	UNC80	ORPHA:371364
HP:0009931	Enlarged naris	8260	NAA10	ORPHA:276432
HP:0009931	Enlarged naris	54903	MKS1	OMIM:249000
HP:0009931	Enlarged naris	64324	NSD1	OMIM:117550
HP:0009932	Single naris	2736	GLI2	OMIM:610829
HP:0009932	Single naris	2736	GLI2	ORPHA:220386
HP:0009932	Single naris	2736	GLI2	ORPHA:93926
HP:0009932	Single naris	2736	GLI2	ORPHA:93924
HP:0009932	Single naris	2736	GLI2	ORPHA:93925
HP:0009932	Single naris	6469	SHH	OMIM:142945
HP:0009932	Single naris	6469	SHH	ORPHA:220386
HP:0009932	Single naris	6469	SHH	ORPHA:93926
HP:0009932	Single naris	6469	SHH	ORPHA:93924
HP:0009932	Single naris	6469	SHH	ORPHA:93925
HP:0009932	Single naris	2260	FGFR1	ORPHA:220386
HP:0009932	Single naris	2260	FGFR1	ORPHA:93924
HP:0009932	Single naris	28514	DLL1	ORPHA:220386
HP:0009932	Single naris	28514	DLL1	ORPHA:93926
HP:0009932	Single naris	28514	DLL1	ORPHA:93924
HP:0009932	Single naris	28514	DLL1	ORPHA:93925
HP:0009932	Single naris	10735	STAG2	ORPHA:220386
HP:0009932	Single naris	10735	STAG2	ORPHA:93925
HP:0009932	Single naris	2253	FGF8	ORPHA:220386
HP:0009932	Single naris	2253	FGF8	ORPHA:93926
HP:0009932	Single naris	2253	FGF8	ORPHA:93924
HP:0009932	Single naris	2253	FGF8	ORPHA:93925
HP:0009932	Single naris	8243	SMC1A	ORPHA:220386
HP:0009932	Single naris	6496	SIX3	ORPHA:220386
HP:0009932	Single naris	6496	SIX3	ORPHA:93926
HP:0009932	Single naris	6496	SIX3	ORPHA:93924
HP:0009932	Single naris	6496	SIX3	ORPHA:93925
HP:0009932	Single naris	7050	TGIF1	ORPHA:220386
HP:0009932	Single naris	7050	TGIF1	ORPHA:93926
HP:0009932	Single naris	7050	TGIF1	ORPHA:93924
HP:0009932	Single naris	7050	TGIF1	ORPHA:93925
HP:0009932	Single naris	4838	NODAL	ORPHA:220386
HP:0009932	Single naris	4838	NODAL	ORPHA:93926
HP:0009932	Single naris	4838	NODAL	ORPHA:93924
HP:0009932	Single naris	4838	NODAL	ORPHA:93925
HP:0009932	Single naris	7546	ZIC2	ORPHA:220386
HP:0009932	Single naris	7546	ZIC2	ORPHA:93926
HP:0009932	Single naris	7546	ZIC2	ORPHA:93924
HP:0009932	Single naris	7546	ZIC2	ORPHA:93925
HP:0009932	Single naris	6491	STIL	ORPHA:220386
HP:0009932	Single naris	6491	STIL	ORPHA:93926
HP:0009932	Single naris	6491	STIL	ORPHA:93924
HP:0009932	Single naris	6491	STIL	ORPHA:93925
HP:0009932	Single naris	2619	GAS1	ORPHA:220386
HP:0009932	Single naris	2619	GAS1	ORPHA:93926
HP:0009932	Single naris	2619	GAS1	ORPHA:93924
HP:0009932	Single naris	2619	GAS1	ORPHA:93925
HP:0009932	Single naris	84976	DISP1	ORPHA:220386
HP:0009932	Single naris	84976	DISP1	ORPHA:93926
HP:0009932	Single naris	84976	DISP1	ORPHA:93924
HP:0009932	Single naris	84976	DISP1	ORPHA:93925
HP:0009932	Single naris	8928	FOXH1	ORPHA:220386
HP:0009932	Single naris	8928	FOXH1	ORPHA:93926
HP:0009932	Single naris	8928	FOXH1	ORPHA:93924
HP:0009932	Single naris	8928	FOXH1	ORPHA:93925
HP:0009932	Single naris	5727	PTCH1	ORPHA:220386
HP:0009932	Single naris	5727	PTCH1	ORPHA:93926
HP:0009932	Single naris	5727	PTCH1	ORPHA:93924
HP:0009932	Single naris	5727	PTCH1	ORPHA:93925
HP:0009932	Single naris	50937	CDON	ORPHA:220386
HP:0009932	Single naris	50937	CDON	ORPHA:93926
HP:0009932	Single naris	50937	CDON	ORPHA:93924
HP:0009932	Single naris	50937	CDON	ORPHA:93925
HP:0009932	Single naris	79848	CSPP1	OMIM:615636
HP:0009932	Single naris	23007	PLCH1	ORPHA:93925
HP:0009932	Single naris	23347	SMCHD1	ORPHA:2250
HP:0009932	Single naris	7473	WNT3	OMIM:273395
HP:0009933	Narrow naris	157570	ESCO2	OMIM:268300
HP:0009933	Narrow naris	5077	PAX3	OMIM:122880
HP:0009933	Narrow naris	523	ATP6V1A	OMIM:617403
HP:0009933	Narrow naris	529	ATP6V1E1	OMIM:617402
HP:0009933	Narrow naris	1954	MEGF8	OMIM:614976
HP:0009933	Narrow naris	3763	KCNJ6	ORPHA:435628
HP:0009933	Narrow naris	3763	KCNJ6	OMIM:614098
HP:0009933	Narrow naris	23483	TGDS	OMIM:616145
HP:0009933	Narrow naris	54496	PRMT7	OMIM:617157
HP:0001388	Joint laxity	8450	CUL4B	OMIM:300354
HP:0001388	Joint laxity	8036	SHOC2	OMIM:607721
HP:0001388	Joint laxity	3376	IARS1	OMIM:617093
HP:0001388	Joint laxity	3376	IARS1	ORPHA:541423
HP:0001388	Joint laxity	23394	ADNP	ORPHA:404448
HP:0001388	Joint laxity	23394	ADNP	OMIM:615873
HP:0001388	Joint laxity	5728	PTEN	OMIM:605309
HP:0001388	Joint laxity	9853	RUSC2	OMIM:617773
HP:0001388	Joint laxity	8425	LTBP4	OMIM:613177
HP:0001388	Joint laxity	57539	WDR35	OMIM:613610
HP:0001388	Joint laxity	2316	FLNA	OMIM:314400
HP:0001388	Joint laxity	347734	SLC35B2	OMIM:620269
HP:0001388	Joint laxity	10274	STAG1	ORPHA:502434
HP:0001388	Joint laxity	10274	STAG1	OMIM:617635
HP:0001388	Joint laxity	538	ATP7A	OMIM:304150
HP:0001388	Joint laxity	538	ATP7A	OMIM:309400
HP:0001388	Joint laxity	23126	POGZ	ORPHA:468678
HP:0001388	Joint laxity	23126	POGZ	OMIM:616364
HP:0001388	Joint laxity	64324	NSD1	ORPHA:821
HP:0001388	Joint laxity	64324	NSD1	OMIM:117550
HP:0001388	Joint laxity	29072	SETD2	ORPHA:821
HP:0001388	Joint laxity	10297	APC2	ORPHA:821
HP:0001388	Joint laxity	3190	HNRNPK	ORPHA:453504
HP:0001388	Joint laxity	3190	HNRNPK	ORPHA:352665
HP:0001388	Joint laxity	4125	MAN2B1	ORPHA:309282
HP:0001388	Joint laxity	10743	RAI1	ORPHA:477817
HP:0001388	Joint laxity	197131	UBR1	OMIM:243800
HP:0001388	Joint laxity	3020	H3-3A	OMIM:619720
HP:0001388	Joint laxity	3021	H3-3B	OMIM:619721
HP:0001388	Joint laxity	6536	SLC6A9	OMIM:617301
HP:0001388	Joint laxity	55790	CSGALNACT1	OMIM:618870
HP:0001388	Joint laxity	5176	SERPINF1	OMIM:613982
HP:0001388	Joint laxity	27245	AHDC1	ORPHA:412069
HP:0001388	Joint laxity	7532	YWHAG	OMIM:617665
HP:0001388	Joint laxity	6662	SOX9	OMIM:114290
HP:0001388	Joint laxity	28960	DCPS	OMIM:616459
HP:0001388	Joint laxity	25782	RAB3GAP2	OMIM:212720
HP:0001388	Joint laxity	55780	ERMARD	ORPHA:75857
HP:0001388	Joint laxity	64175	P3H1	OMIM:610915
HP:0001388	Joint laxity	29925	GMPPB	ORPHA:353327
HP:0001388	Joint laxity	2673	GFPT1	ORPHA:353327
HP:0001388	Joint laxity	1798	DPAGT1	ORPHA:353327
HP:0001388	Joint laxity	85365	ALG2	ORPHA:353327
HP:0001388	Joint laxity	85365	ALG2	OMIM:607906
HP:0001388	Joint laxity	199857	ALG14	ORPHA:353327
HP:0001388	Joint laxity	6595	SMARCA2	OMIM:619293
HP:0001388	Joint laxity	57492	ARID1B	OMIM:135900
HP:0001388	Joint laxity	57492	ARID1B	ORPHA:1465
HP:0001388	Joint laxity	284058	KANSL1	ORPHA:363958
HP:0001388	Joint laxity	284058	KANSL1	ORPHA:363965
HP:0001388	Joint laxity	54453	RIN2	OMIM:613075
HP:0001388	Joint laxity	6261	RYR1	OMIM:255320
HP:0001388	Joint laxity	6261	RYR1	ORPHA:597
HP:0001388	Joint laxity	6261	RYR1	ORPHA:98905
HP:0001388	Joint laxity	4853	NOTCH2	OMIM:102500
HP:0001388	Joint laxity	10381	TUBB3	ORPHA:300570
HP:0001388	Joint laxity	5015	OTX2	OMIM:610125
HP:0001388	Joint laxity	55858	TMEM165	OMIM:614727
HP:0001388	Joint laxity	10716	TBR1	OMIM:606053
HP:0001388	Joint laxity	6598	SMARCB1	OMIM:614608
HP:0001388	Joint laxity	6598	SMARCB1	ORPHA:1465
HP:0001388	Joint laxity	10484	SEC23A	OMIM:607812
HP:0001388	Joint laxity	8726	EED	OMIM:617561
HP:0001388	Joint laxity	633	BGN	OMIM:300106
HP:0001388	Joint laxity	6885	MAP3K7	OMIM:157800
HP:0001388	Joint laxity	2720	GLB1	OMIM:253010
HP:0001388	Joint laxity	54872	PIGG	ORPHA:488635
HP:0001388	Joint laxity	2783	GNB2	OMIM:619503
HP:0001388	Joint laxity	9731	CEP104	OMIM:619988
HP:0001388	Joint laxity	25942	SIN3A	OMIM:613406
HP:0001388	Joint laxity	25942	SIN3A	ORPHA:94065
HP:0001388	Joint laxity	8642	DCHS1	OMIM:601390
HP:0001388	Joint laxity	10522	DEAF1	OMIM:615828
HP:0001388	Joint laxity	1947	EFNB1	OMIM:304110
HP:0001388	Joint laxity	11285	B4GALT7	OMIM:130070
HP:0001388	Joint laxity	54914	FOCAD	OMIM:619991
HP:0001388	Joint laxity	2332	FMR1	ORPHA:908
HP:0001388	Joint laxity	2332	FMR1	ORPHA:449291
HP:0001388	Joint laxity	2332	FMR1	OMIM:300624
HP:0001388	Joint laxity	6023	RMRP	OMIM:250250
HP:0001388	Joint laxity	6023	RMRP	OMIM:250460
HP:0001388	Joint laxity	6023	RMRP	OMIM:607095
HP:0001388	Joint laxity	8239	USP9X	ORPHA:480880
HP:0001388	Joint laxity	8239	USP9X	OMIM:300968
HP:0001388	Joint laxity	5828	PEX2	OMIM:614867
HP:0001388	Joint laxity	6804	STX1A	ORPHA:904
HP:0001388	Joint laxity	7461	CLIP2	ORPHA:904
HP:0001388	Joint laxity	84277	DNAJC30	ORPHA:904
HP:0001388	Joint laxity	8468	FKBP6	ORPHA:904
HP:0001388	Joint laxity	5982	RFC2	ORPHA:904
HP:0001388	Joint laxity	2969	GTF2I	ORPHA:904
HP:0001388	Joint laxity	3984	LIMK1	ORPHA:904
HP:0001388	Joint laxity	9569	GTF2IRD1	ORPHA:904
HP:0001388	Joint laxity	155382	VPS37D	ORPHA:904
HP:0001388	Joint laxity	155368	METTL27	ORPHA:904
HP:0001388	Joint laxity	114049	BUD23	ORPHA:904
HP:0001388	Joint laxity	7458	EIF4H	ORPHA:904
HP:0001388	Joint laxity	84163	GTF2IRD2	ORPHA:904
HP:0001388	Joint laxity	9275	BCL7B	ORPHA:904
HP:0001388	Joint laxity	26608	TBL2	ORPHA:904
HP:0001388	Joint laxity	653361	NCF1	ORPHA:904
HP:0001388	Joint laxity	135886	TMEM270	ORPHA:904
HP:0001388	Joint laxity	51085	MLXIPL	ORPHA:904
HP:0001388	Joint laxity	51085	MLXIPL	OMIM:194050
HP:0001388	Joint laxity	9031	BAZ1B	ORPHA:904
HP:0001388	Joint laxity	2006	ELN	ORPHA:904
HP:0001388	Joint laxity	2006	ELN	OMIM:194050
HP:0001388	Joint laxity	2006	ELN	ORPHA:90348
HP:0001388	Joint laxity	10056	FARSB	OMIM:613658
HP:0001388	Joint laxity	1311	COMP	OMIM:177170
HP:0001388	Joint laxity	1311	COMP	ORPHA:750
HP:0001388	Joint laxity	57459	GATAD2B	ORPHA:363686
HP:0001388	Joint laxity	5605	MAP2K2	OMIM:615280
HP:0001388	Joint laxity	715	C1R	OMIM:130080
HP:0001388	Joint laxity	5594	MAPK1	OMIM:619087
HP:0001388	Joint laxity	1742	DLG4	OMIM:618793
HP:0001388	Joint laxity	124583	CANT1	OMIM:251450
HP:0001388	Joint laxity	3187	HNRNPH1	OMIM:620083
HP:0001388	Joint laxity	4920	ROR2	OMIM:268310
HP:0001388	Joint laxity	5373	PMM2	ORPHA:79318
HP:0001388	Joint laxity	5295	PIK3R1	OMIM:269880
HP:0001388	Joint laxity	3835	KIF22	OMIM:603546
HP:0001388	Joint laxity	3835	KIF22	ORPHA:93360
HP:0001388	Joint laxity	81031	SLC2A10	OMIM:208050
HP:0001388	Joint laxity	54941	RNF125	OMIM:616260
HP:0001388	Joint laxity	23483	TGDS	OMIM:616145
HP:0001388	Joint laxity	55084	SOBP	OMIM:613671
HP:0001388	Joint laxity	51227	PIGP	OMIM:617599
HP:0001388	Joint laxity	10516	FBLN5	ORPHA:90348
HP:0001388	Joint laxity	10516	FBLN5	ORPHA:90349
HP:0001388	Joint laxity	10516	FBLN5	OMIM:219100
HP:0001388	Joint laxity	5832	ALDH18A1	ORPHA:90348
HP:0001388	Joint laxity	5832	ALDH18A1	OMIM:616603
HP:0001388	Joint laxity	4088	SMAD3	OMIM:613795
HP:0001388	Joint laxity	4088	SMAD3	ORPHA:284984
HP:0001388	Joint laxity	4052	LTBP1	ORPHA:90349
HP:0001388	Joint laxity	4052	LTBP1	OMIM:619451
HP:0001388	Joint laxity	30008	EFEMP2	ORPHA:90349
HP:0001388	Joint laxity	7048	TGFBR2	OMIM:610168
HP:0001388	Joint laxity	1107	CHD3	OMIM:618205
HP:0001388	Joint laxity	60681	FKBP10	OMIM:610968
HP:0001388	Joint laxity	60681	FKBP10	OMIM:259450
HP:0001388	Joint laxity	2317	FLNB	OMIM:150250
HP:0001388	Joint laxity	54903	MKS1	OMIM:617121
HP:0001388	Joint laxity	4883	NPR3	OMIM:619543
HP:0001388	Joint laxity	112752	IFT43	OMIM:614099
HP:0001388	Joint laxity	91252	SLC39A13	OMIM:612350
HP:0001388	Joint laxity	93587	TRMT10A	OMIM:616033
HP:0001388	Joint laxity	93587	TRMT10A	ORPHA:391408
HP:0001388	Joint laxity	2702	GJA5	OMIM:612474
HP:0001388	Joint laxity	2703	GJA8	OMIM:612474
HP:0001388	Joint laxity	867	CBL	OMIM:613563
HP:0001388	Joint laxity	7046	TGFBR1	OMIM:609192
HP:0001388	Joint laxity	1642	DDB1	OMIM:619426
HP:0001388	Joint laxity	164	AP1G1	OMIM:619548
HP:0001388	Joint laxity	6857	SYT1	OMIM:618218
HP:0001388	Joint laxity	6857	SYT1	ORPHA:522077
HP:0001388	Joint laxity	81603	TRIM8	OMIM:619428
HP:0001388	Joint laxity	3720	JARID2	OMIM:620098
HP:0001388	Joint laxity	5979	RET	OMIM:162300
HP:0001388	Joint laxity	65992	DDRGK1	OMIM:602557
HP:0001388	Joint laxity	65992	DDRGK1	ORPHA:93352
HP:0001388	Joint laxity	2245	FGD1	OMIM:305400
HP:0001388	Joint laxity	8925	HERC1	OMIM:617011
HP:0001388	Joint laxity	8925	HERC1	ORPHA:457359
HP:0001388	Joint laxity	1291	COL6A1	OMIM:254090
HP:0001388	Joint laxity	1292	COL6A2	OMIM:254090
HP:0001388	Joint laxity	1293	COL6A3	OMIM:254090
HP:0001388	Joint laxity	5351	PLOD1	OMIM:225400
HP:0001388	Joint laxity	84627	ZNF469	OMIM:229200
HP:0001388	Joint laxity	57102	C12orf4	OMIM:618221
HP:0001388	Joint laxity	92335	STRADA	ORPHA:500533
HP:0001388	Joint laxity	92335	STRADA	OMIM:611087
HP:0001388	Joint laxity	79650	USB1	OMIM:604173
HP:0001388	Joint laxity	10847	SRCAP	OMIM:136140
HP:0001388	Joint laxity	1387	CREBBP	ORPHA:353281
HP:0001388	Joint laxity	1387	CREBBP	OMIM:180849
HP:0001388	Joint laxity	1387	CREBBP	ORPHA:353277
HP:0001388	Joint laxity	2623	GATA1	OMIM:190685
HP:0001388	Joint laxity	29998	BICRA	OMIM:619325
HP:0001388	Joint laxity	388015	RTL1	ORPHA:254528
HP:0001388	Joint laxity	8788	DLK1	ORPHA:254528
HP:0001388	Joint laxity	55384	MEG3	ORPHA:254528
HP:0001388	Joint laxity	1654	DDX3X	ORPHA:457260
HP:0001388	Joint laxity	2033	EP300	ORPHA:353284
HP:0001388	Joint laxity	2033	EP300	OMIM:180849
HP:0001388	Joint laxity	176	ACAN	OMIM:612813
HP:0001388	Joint laxity	176	ACAN	ORPHA:171866
HP:0001388	Joint laxity	26224	FBXL3	OMIM:606220
HP:0001388	Joint laxity	4297	KMT2A	OMIM:605130
HP:0001388	Joint laxity	2239	GPC4	OMIM:301026
HP:0001388	Joint laxity	4141	MARS1	OMIM:619692
HP:0001388	Joint laxity	4998	ORC1	OMIM:224690
HP:0001388	Joint laxity	11253	MAN1B1	OMIM:614202
HP:0001388	Joint laxity	55603	TENT5A	OMIM:617952
HP:0001388	Joint laxity	6597	SMARCA4	ORPHA:1465
HP:0001388	Joint laxity	6659	SOX4	ORPHA:1465
HP:0001388	Joint laxity	8289	ARID1A	ORPHA:1465
HP:0001388	Joint laxity	5977	DPF2	ORPHA:1465
HP:0001388	Joint laxity	6601	SMARCC2	ORPHA:1465
HP:0001388	Joint laxity	6602	SMARCD1	ORPHA:1465
HP:0001388	Joint laxity	196528	ARID2	ORPHA:1465
HP:0001388	Joint laxity	6605	SMARCE1	ORPHA:1465
HP:0001388	Joint laxity	6664	SOX11	ORPHA:1465
HP:0001388	Joint laxity	64131	XYLT1	OMIM:615777
HP:0001388	Joint laxity	64131	XYLT1	ORPHA:370930
HP:0001388	Joint laxity	2019	EN1	OMIM:619218
HP:0001388	Joint laxity	29940	DSE	OMIM:615539
HP:0001388	Joint laxity	6678	SPARC	OMIM:616507
HP:0001388	Joint laxity	3759	KCNJ2	OMIM:170390
HP:0001388	Joint laxity	3759	KCNJ2	ORPHA:37553
HP:0001388	Joint laxity	55764	IFT122	OMIM:218330
HP:0001388	Joint laxity	444	ASPH	OMIM:601552
HP:0001388	Joint laxity	22827	PUF60	ORPHA:508488
HP:0001388	Joint laxity	22827	PUF60	OMIM:615583
HP:0001388	Joint laxity	80324	PUS1	OMIM:600462
HP:0001388	Joint laxity	1277	COL1A1	OMIM:130060
HP:0001388	Joint laxity	9509	ADAMTS2	OMIM:225410
HP:0001388	Joint laxity	372	ARCN1	OMIM:617164
HP:0001388	Joint laxity	79576	NKAP	OMIM:301039
HP:0001388	Joint laxity	4015	LOX	OMIM:617168
HP:0001388	Joint laxity	7403	KDM6A	OMIM:300867
HP:0001388	Joint laxity	3188	HNRNPH2	OMIM:300986
HP:0001388	Joint laxity	4041	LRP5	ORPHA:2788
HP:0001388	Joint laxity	5144	PDE4D	ORPHA:439822
HP:0001388	Joint laxity	175	AGA	OMIM:208400
HP:0001388	Joint laxity	79633	FAT4	OMIM:615546
HP:0001388	Joint laxity	79718	TBL1XR1	ORPHA:487825
HP:0001388	Joint laxity	64840	PORCN	OMIM:305600
HP:0001388	Joint laxity	9791	PTDSS1	OMIM:151050
HP:0001388	Joint laxity	4882	NPR2	OMIM:602875
HP:0001388	Joint laxity	84265	POLR3GL	OMIM:619234
HP:0001388	Joint laxity	57003	CCDC47	OMIM:618268
HP:0001388	Joint laxity	57187	THOC2	OMIM:300957
HP:0001388	Joint laxity	57061	HYMAI	ORPHA:96191
HP:0001388	Joint laxity	5325	PLAGL1	ORPHA:96191
HP:0001388	Joint laxity	10526	IPO8	OMIM:619472
HP:0001388	Joint laxity	2892	GRIA3	ORPHA:364028
HP:0001388	Joint laxity	10367	MICU1	OMIM:615673
HP:0001388	Joint laxity	1278	COL1A2	OMIM:225320
HP:0001388	Joint laxity	94005	PIGS	OMIM:618143
HP:0001388	Joint laxity	145173	B3GLCT	OMIM:261540
HP:0001388	Joint laxity	6711	SPTBN1	OMIM:619475
HP:0001388	Joint laxity	2588	GALNS	OMIM:253000
HP:0001388	Joint laxity	92002	CCNQ	OMIM:300707
HP:0001388	Joint laxity	23233	EXOC6B	ORPHA:93359
HP:0001388	Joint laxity	23233	EXOC6B	OMIM:618395
HP:0001388	Joint laxity	126792	B3GALT6	ORPHA:93359
HP:0001388	Joint laxity	126792	B3GALT6	OMIM:271640
HP:0001388	Joint laxity	126792	B3GALT6	OMIM:615349
HP:0001388	Joint laxity	4361	MRE11	ORPHA:251347
HP:0001388	Joint laxity	9894	TELO2	ORPHA:488642
HP:0001388	Joint laxity	9968	MED12	OMIM:309520
HP:0001388	Joint laxity	246329	STAC3	ORPHA:168572
HP:0001388	Joint laxity	4796	TONSL	ORPHA:93357
HP:0001388	Joint laxity	113189	CHST14	OMIM:601776
HP:0001388	Joint laxity	5290	PIK3CA	OMIM:602501
HP:0001388	Joint laxity	9325	TRIP4	OMIM:617066
HP:0001388	Joint laxity	9325	TRIP4	ORPHA:486815
HP:0001388	Joint laxity	4841	NONO	OMIM:300967
HP:0001388	Joint laxity	4841	NONO	ORPHA:466791
HP:0001388	Joint laxity	8318	CDC45	OMIM:617063
HP:0001388	Joint laxity	60482	SLC5A7	ORPHA:98914
HP:0001388	Joint laxity	4649	MYO9A	ORPHA:98914
HP:0001388	Joint laxity	1305	COL13A1	ORPHA:98914
HP:0001388	Joint laxity	1103	CHAT	ORPHA:98914
HP:0001388	Joint laxity	6576	SLC25A1	ORPHA:98914
HP:0001388	Joint laxity	6843	VAMP1	ORPHA:98914
HP:0001388	Joint laxity	375790	AGRN	ORPHA:98914
HP:0001388	Joint laxity	127833	SYT2	ORPHA:98914
HP:0001388	Joint laxity	6572	SLC18A3	ORPHA:98914
HP:0001388	Joint laxity	6616	SNAP25	ORPHA:98914
HP:0001388	Joint laxity	84919	PPP1R15B	ORPHA:391408
HP:0001388	Joint laxity	6497	SKI	OMIM:182212
HP:0001388	Joint laxity	5879	RAC1	OMIM:617751
HP:0001388	Joint laxity	5879	RAC1	ORPHA:500159
HP:0001388	Joint laxity	54187	NANS	OMIM:610442
HP:0001388	Joint laxity	5076	PAX2	OMIM:120330
HP:0001388	Joint laxity	1513	CTSK	ORPHA:763
HP:0001388	Joint laxity	51776	MAP3K20	OMIM:617760
HP:0001388	Joint laxity	529	ATP6V1E1	OMIM:617402
HP:0001388	Joint laxity	26123	TCTN3	OMIM:614815
HP:0001388	Joint laxity	7042	TGFB2	OMIM:614816
HP:0001388	Joint laxity	871	SERPINH1	OMIM:613848
HP:0001388	Joint laxity	3762	KCNJ5	ORPHA:37553
HP:0001388	Joint laxity	9361	LONP1	OMIM:600373
HP:0001388	Joint laxity	2260	FGFR1	ORPHA:432
HP:0001388	Joint laxity	81848	SPRY4	ORPHA:432
HP:0001388	Joint laxity	128674	PROKR2	ORPHA:432
HP:0001388	Joint laxity	2253	FGF8	ORPHA:432
HP:0001388	Joint laxity	60675	PROK2	ORPHA:432
HP:0001388	Joint laxity	55636	CHD7	ORPHA:432
HP:0001388	Joint laxity	6870	TACR3	ORPHA:432
HP:0001388	Joint laxity	1848	DUSP6	ORPHA:432
HP:0001388	Joint laxity	26012	NSMF	ORPHA:432
HP:0001388	Joint laxity	55717	WDR11	ORPHA:432
HP:0001388	Joint laxity	9394	HS6ST1	ORPHA:432
HP:0001388	Joint laxity	2796	GNRH1	ORPHA:432
HP:0001388	Joint laxity	2798	GNRHR	ORPHA:432
HP:0001388	Joint laxity	84634	KISS1R	ORPHA:432
HP:0001388	Joint laxity	6866	TAC3	ORPHA:432
HP:0001388	Joint laxity	8822	FGF17	ORPHA:432
HP:0001388	Joint laxity	3814	KISS1	ORPHA:432
HP:0001388	Joint laxity	10717	AP4B1	ORPHA:280763
HP:0001388	Joint laxity	9179	AP4M1	ORPHA:280763
HP:0001388	Joint laxity	11154	AP4S1	ORPHA:280763
HP:0001388	Joint laxity	23431	AP4E1	ORPHA:280763
HP:0001388	Joint laxity	1290	COL5A2	OMIM:130010
HP:0001388	Joint laxity	1290	COL5A2	ORPHA:287
HP:0001388	Joint laxity	23545	ATP6V0A2	ORPHA:357074
HP:0001388	Joint laxity	23545	ATP6V0A2	ORPHA:2834
HP:0001388	Joint laxity	523	ATP6V1A	ORPHA:357074
HP:0001388	Joint laxity	165	AEBP1	OMIM:618000
HP:0001388	Joint laxity	2261	FGFR3	OMIM:100800
HP:0001388	Joint laxity	23314	SATB2	ORPHA:251028
HP:0001388	Joint laxity	1289	COL5A1	ORPHA:287
HP:0001388	Joint laxity	55023	PHIP	ORPHA:589905
HP:0001388	Joint laxity	6999	TDO2	OMIM:600627
HP:0001388	Joint laxity	1280	COL2A1	ORPHA:85198
HP:0001388	Joint laxity	55784	MCTP2	ORPHA:1596
HP:0001388	Joint laxity	55154	MSTO1	ORPHA:502423
HP:0001388	Joint laxity	79912	PYROXD1	OMIM:617258
HP:0001388	Joint laxity	1303	COL12A1	OMIM:616471
HP:0001373	Joint dislocation	2639	GCDH	ORPHA:25
HP:0001373	Joint dislocation	7421	VDR	ORPHA:93160
HP:0001373	Joint dislocation	11285	B4GALT7	OMIM:130070
HP:0001373	Joint dislocation	30061	SLC40A1	ORPHA:139491
HP:0001373	Joint dislocation	716	C1S	OMIM:617174
HP:0001373	Joint dislocation	1776	DNASE1L3	ORPHA:36412
HP:0001373	Joint dislocation	2131	EXT1	ORPHA:502
HP:0001373	Joint dislocation	7227	TRPS1	ORPHA:502
HP:0001373	Joint dislocation	6595	SMARCA2	ORPHA:3051
HP:0001373	Joint dislocation	715	C1R	OMIM:130080
HP:0001373	Joint dislocation	284058	KANSL1	ORPHA:363965
HP:0001373	Joint dislocation	284058	KANSL1	ORPHA:363958
HP:0001373	Joint dislocation	1278	COL1A2	ORPHA:230851
HP:0001373	Joint dislocation	1278	COL1A2	OMIM:619120
HP:0001373	Joint dislocation	1278	COL1A2	ORPHA:1899
HP:0001373	Joint dislocation	1289	COL5A1	OMIM:130000
HP:0001373	Joint dislocation	55790	CSGALNACT1	OMIM:618870
HP:0001373	Joint dislocation	124583	CANT1	OMIM:251450
HP:0001373	Joint dislocation	26224	FBXL3	OMIM:606220
HP:0001373	Joint dislocation	6748	SSR4	ORPHA:370927
HP:0001373	Joint dislocation	6748	SSR4	OMIM:300934
HP:0001373	Joint dislocation	4621	MYH3	OMIM:193700
HP:0001373	Joint dislocation	23483	TGDS	OMIM:616145
HP:0001373	Joint dislocation	9469	CHST3	OMIM:143095
HP:0001373	Joint dislocation	404672	GTF2H5	ORPHA:33364
HP:0001373	Joint dislocation	833	CARS1	ORPHA:33364
HP:0001373	Joint dislocation	2068	ERCC2	ORPHA:33364
HP:0001373	Joint dislocation	7737	RNF113A	ORPHA:33364
HP:0001373	Joint dislocation	136647	MPLKIP	ORPHA:33364
HP:0001373	Joint dislocation	6897	TARS1	ORPHA:33364
HP:0001373	Joint dislocation	2071	ERCC3	ORPHA:33364
HP:0001373	Joint dislocation	2961	GTF2E2	ORPHA:33364
HP:0001373	Joint dislocation	10225	CD96	ORPHA:1308
HP:0001373	Joint dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0001373	Joint dislocation	9509	ADAMTS2	ORPHA:1901
HP:0001373	Joint dislocation	64131	XYLT1	ORPHA:370930
HP:0001373	Joint dislocation	26123	TCTN3	ORPHA:2753
HP:0001373	Joint dislocation	3081	HGD	ORPHA:56
HP:0001373	Joint dislocation	1186	CLCN7	ORPHA:53
HP:0001373	Joint dislocation	171023	ASXL1	ORPHA:97297
HP:0001373	Joint dislocation	171023	ASXL1	OMIM:605039
HP:0001373	Joint dislocation	2743	GLRB	ORPHA:3197
HP:0001373	Joint dislocation	2741	GLRA1	ORPHA:3197
HP:0001373	Joint dislocation	10243	GPHN	ORPHA:3197
HP:0001373	Joint dislocation	84896	ATAD1	ORPHA:3197
HP:0001373	Joint dislocation	9152	SLC6A5	ORPHA:3197
HP:0001373	Joint dislocation	633	BGN	OMIM:300989
HP:0001373	Joint dislocation	1280	COL2A1	ORPHA:2380
HP:0001373	Joint dislocation	1280	COL2A1	ORPHA:85198
HP:0001373	Joint dislocation	7046	TGFBR1	ORPHA:60030
HP:0001373	Joint dislocation	7048	TGFBR2	ORPHA:60030
HP:0001373	Joint dislocation	114548	NLRP3	ORPHA:1451
HP:0001373	Joint dislocation	1146	CHRNG	OMIM:253290
HP:0001373	Joint dislocation	1144	CHRND	OMIM:253290
HP:0001373	Joint dislocation	1134	CHRNA1	OMIM:253290
HP:0001373	Joint dislocation	3930	LBR	OMIM:618019
HP:0001373	Joint dislocation	8883	NAE1	OMIM:620210
HP:0001373	Joint dislocation	4982	TNFRSF11B	ORPHA:1416
HP:0001373	Joint dislocation	56172	ANKH	ORPHA:1416
HP:0001373	Joint dislocation	9361	LONP1	OMIM:600373
HP:0001373	Joint dislocation	9361	LONP1	ORPHA:1458
HP:0001373	Joint dislocation	6261	RYR1	ORPHA:597
HP:0001373	Joint dislocation	6261	RYR1	OMIM:117000
HP:0001373	Joint dislocation	64840	PORCN	OMIM:305600
HP:0001373	Joint dislocation	6628	SNRPB	OMIM:117650
HP:0001373	Joint dislocation	5351	PLOD1	OMIM:225400
HP:0001373	Joint dislocation	134218	DNAJC21	OMIM:617052
HP:0001373	Joint dislocation	1182	CLCN3	OMIM:619512
HP:0001373	Joint dislocation	63895	PIEZO2	OMIM:114300
HP:0001373	Joint dislocation	2138	EYA1	OMIM:113650
HP:0001373	Joint dislocation	6495	SIX1	OMIM:113650
HP:0001373	Joint dislocation	84627	ZNF469	OMIM:229200
HP:0001373	Joint dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0001373	Joint dislocation	7531	YWHAE	ORPHA:217385
HP:0001373	Joint dislocation	6885	MAP3K7	OMIM:617137
HP:0001373	Joint dislocation	9820	CUL7	ORPHA:2616
HP:0001373	Joint dislocation	23363	OBSL1	ORPHA:2616
HP:0001373	Joint dislocation	83987	CCDC8	ORPHA:2616
HP:0001373	Joint dislocation	8239	USP9X	ORPHA:480880
HP:0001373	Joint dislocation	8195	MKKS	OMIM:236700
HP:0001373	Joint dislocation	1131	CHRM3	ORPHA:2970
HP:0001373	Joint dislocation	1131	CHRM3	OMIM:100100
HP:0001373	Joint dislocation	10060	ABCC9	OMIM:619719
HP:0001373	Joint dislocation	23545	ATP6V0A2	OMIM:219200
HP:0001373	Joint dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0001373	Joint dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0001373	Joint dislocation	23545	ATP6V0A2	OMIM:278250
HP:0001373	Joint dislocation	9401	RECQL4	OMIM:268400
HP:0001373	Joint dislocation	89910	UBE3B	OMIM:244450
HP:0001373	Joint dislocation	1723	DHODH	OMIM:263750
HP:0001373	Joint dislocation	60482	SLC5A7	ORPHA:98914
HP:0001373	Joint dislocation	4649	MYO9A	ORPHA:98914
HP:0001373	Joint dislocation	1305	COL13A1	ORPHA:98914
HP:0001373	Joint dislocation	1103	CHAT	ORPHA:98914
HP:0001373	Joint dislocation	6576	SLC25A1	ORPHA:98914
HP:0001373	Joint dislocation	6843	VAMP1	ORPHA:98914
HP:0001373	Joint dislocation	375790	AGRN	ORPHA:98914
HP:0001373	Joint dislocation	127833	SYT2	ORPHA:98914
HP:0001373	Joint dislocation	6572	SLC18A3	ORPHA:98914
HP:0001373	Joint dislocation	6616	SNAP25	ORPHA:98914
HP:0001373	Joint dislocation	5832	ALDH18A1	OMIM:219150
HP:0001373	Joint dislocation	55768	NGLY1	ORPHA:404454
HP:0001373	Joint dislocation	2316	FLNA	OMIM:304120
HP:0001373	Joint dislocation	2273	FHL1	OMIM:300280
HP:0001373	Joint dislocation	7169	TPM2	OMIM:108120
HP:0001373	Joint dislocation	7169	TPM2	ORPHA:2020
HP:0001373	Joint dislocation	6904	TBCD	ORPHA:496641
HP:0001373	Joint dislocation	7547	ZIC3	OMIM:306955
HP:0001373	Joint dislocation	3835	KIF22	OMIM:603546
HP:0001373	Joint dislocation	2239	GPC4	ORPHA:373
HP:0001373	Joint dislocation	2719	GPC3	ORPHA:373
HP:0001373	Joint dislocation	7476	WNT7A	OMIM:228930
HP:0001373	Joint dislocation	1290	COL5A2	OMIM:130010
HP:0001373	Joint dislocation	523	ATP6V1A	ORPHA:357074
HP:0001373	Joint dislocation	529	ATP6V1E1	ORPHA:357074
HP:0001373	Joint dislocation	5528	PPP2R5D	ORPHA:457279
HP:0001373	Joint dislocation	5528	PPP2R5D	OMIM:616355
HP:0001373	Joint dislocation	8260	NAA10	OMIM:300855
HP:0001373	Joint dislocation	50814	NSDHL	OMIM:308050
HP:0001373	Joint dislocation	23522	KAT6B	OMIM:606170
HP:0001373	Joint dislocation	5831	PYCR1	OMIM:612940
HP:0001373	Joint dislocation	50628	GEMIN4	OMIM:617913
HP:0001373	Joint dislocation	3339	HSPG2	OMIM:255800
HP:0001373	Joint dislocation	9896	FIG4	OMIM:216340
HP:0001373	Joint dislocation	23299	BICD2	OMIM:618291
HP:0001373	Joint dislocation	22827	PUF60	ORPHA:508488
HP:0001373	Joint dislocation	1281	COL3A1	ORPHA:286
HP:0001373	Joint dislocation	57190	SELENON	ORPHA:2020
HP:0001373	Joint dislocation	58	ACTA1	ORPHA:2020
HP:0001373	Joint dislocation	4633	MYL2	ORPHA:2020
HP:0001373	Joint dislocation	3679	ITGA7	ORPHA:2020
HP:0001373	Joint dislocation	9200	HACD1	ORPHA:2020
HP:0001373	Joint dislocation	7170	TPM3	ORPHA:2020
HP:0001373	Joint dislocation	7170	TPM3	OMIM:255310
HP:0001373	Joint dislocation	51776	MAP3K20	ORPHA:2020
HP:0001373	Joint dislocation	51651	PTRH2	ORPHA:456312
HP:0001373	Joint dislocation	9427	ECEL1	OMIM:615065
HP:0001373	Joint dislocation	7067	THRA	OMIM:614450
HP:0001373	Joint dislocation	8085	KMT2D	OMIM:147920
HP:0001373	Joint dislocation	7403	KDM6A	OMIM:147920
HP:0001373	Joint dislocation	2737	GLI3	ORPHA:672
HP:0001373	Joint dislocation	2737	GLI3	OMIM:146510
HP:0001373	Joint dislocation	2737	GLI3	ORPHA:93322
HP:0001373	Joint dislocation	55906	ZC4H2	OMIM:301041
HP:0001373	Joint dislocation	55906	ZC4H2	OMIM:314580
HP:0001373	Joint dislocation	55703	POLR3B	OMIM:614381
HP:0001373	Joint dislocation	10262	SF3B4	OMIM:154400
HP:0001373	Joint dislocation	1291	COL6A1	OMIM:254090
HP:0001373	Joint dislocation	1291	COL6A1	ORPHA:75840
HP:0001373	Joint dislocation	1292	COL6A2	OMIM:254090
HP:0001373	Joint dislocation	1292	COL6A2	ORPHA:75840
HP:0001373	Joint dislocation	1293	COL6A3	OMIM:254090
HP:0001373	Joint dislocation	1293	COL6A3	ORPHA:75840
HP:0001373	Joint dislocation	56896	DPYSL5	OMIM:619435
HP:0001373	Joint dislocation	579	NKX3-2	OMIM:613330
HP:0001373	Joint dislocation	10054	UBA2	OMIM:619959
HP:0001373	Joint dislocation	79796	ALG9	OMIM:608776
HP:0001373	Joint dislocation	4784	NFIX	ORPHA:447980
HP:0001373	Joint dislocation	4703	NEB	ORPHA:171436
HP:0001373	Joint dislocation	10324	KLHL41	ORPHA:171436
HP:0001373	Joint dislocation	56203	LMOD3	ORPHA:171436
HP:0001373	Joint dislocation	1073	CFL2	ORPHA:171436
HP:0001373	Joint dislocation	6536	SLC6A9	OMIM:617301
HP:0001373	Joint dislocation	55784	MCTP2	ORPHA:1596
HP:0001373	Joint dislocation	16	AARS1	OMIM:616339
HP:0001373	Joint dislocation	51010	EXOSC3	OMIM:614678
HP:0001373	Joint dislocation	1717	DHCR7	ORPHA:818
HP:0001373	Joint dislocation	1717	DHCR7	OMIM:270400
HP:0001373	Joint dislocation	9915	ARNT2	OMIM:615926
HP:0001373	Joint dislocation	79158	GNPTAB	OMIM:252500
HP:0001373	Joint dislocation	79158	GNPTAB	ORPHA:576
HP:0001373	Joint dislocation	4626	MYH8	ORPHA:3377
HP:0001373	Joint dislocation	4626	MYH8	OMIM:158300
HP:0001373	Joint dislocation	2187	FANCB	ORPHA:3412
HP:0001373	Joint dislocation	2187	FANCB	ORPHA:84
HP:0001373	Joint dislocation	23499	MACF1	ORPHA:572013
HP:0001373	Joint dislocation	387119	CEP85L	ORPHA:572013
HP:0001373	Joint dislocation	64135	IFIH1	OMIM:182250
HP:0001373	Joint dislocation	29925	GMPPB	ORPHA:370968
HP:0001373	Joint dislocation	79147	FKRP	ORPHA:370968
HP:0001373	Joint dislocation	29954	POMT2	ORPHA:370968
HP:0001373	Joint dislocation	29954	POMT2	OMIM:613156
HP:0001373	Joint dislocation	9215	LARGE1	ORPHA:370968
HP:0001373	Joint dislocation	10585	POMT1	ORPHA:370968
HP:0001373	Joint dislocation	1351	COX8A	OMIM:619059
HP:0001373	Joint dislocation	2530	FUT8	OMIM:618005
HP:0001373	Joint dislocation	4052	LTBP1	OMIM:619451
HP:0001373	Joint dislocation	4052	LTBP1	ORPHA:90349
HP:0001373	Joint dislocation	3572	IL6ST	OMIM:618523
HP:0001373	Joint dislocation	29920	PYCR2	ORPHA:481152
HP:0001373	Joint dislocation	672	BRCA1	ORPHA:84
HP:0001373	Joint dislocation	10459	MAD2L2	ORPHA:84
HP:0001373	Joint dislocation	7516	XRCC2	ORPHA:84
HP:0001373	Joint dislocation	29089	UBE2T	ORPHA:84
HP:0001373	Joint dislocation	675	BRCA2	ORPHA:84
HP:0001373	Joint dislocation	55120	FANCL	ORPHA:84
HP:0001373	Joint dislocation	2177	FANCD2	ORPHA:84
HP:0001373	Joint dislocation	2175	FANCA	ORPHA:84
HP:0001373	Joint dislocation	2176	FANCC	ORPHA:84
HP:0001373	Joint dislocation	2178	FANCE	ORPHA:84
HP:0001373	Joint dislocation	2188	FANCF	ORPHA:84
HP:0001373	Joint dislocation	2189	FANCG	ORPHA:84
HP:0001373	Joint dislocation	5888	RAD51	ORPHA:84
HP:0001373	Joint dislocation	5889	RAD51C	ORPHA:84
HP:0001373	Joint dislocation	55159	RFWD3	ORPHA:84
HP:0001373	Joint dislocation	83990	BRIP1	ORPHA:84
HP:0001373	Joint dislocation	57697	FANCM	ORPHA:84
HP:0001373	Joint dislocation	79728	PALB2	ORPHA:84
HP:0001373	Joint dislocation	84464	SLX4	ORPHA:84
HP:0001373	Joint dislocation	2072	ERCC4	ORPHA:84
HP:0001373	Joint dislocation	55215	FANCI	ORPHA:84
HP:0001373	Joint dislocation	6678	SPARC	OMIM:616507
HP:0001373	Joint dislocation	25778	DSTYK	ORPHA:101003
HP:0001373	Joint dislocation	57531	HACE1	ORPHA:464282
HP:0001373	Joint dislocation	57531	HACE1	OMIM:616756
HP:0001373	Joint dislocation	55697	VAC14	ORPHA:3472
HP:0001373	Joint dislocation	860	RUNX2	OMIM:119600
HP:0001373	Joint dislocation	22872	SEC31A	OMIM:618651
HP:0001373	Joint dislocation	26175	LYSET	OMIM:619345
HP:0001373	Joint dislocation	9451	EIF2AK3	OMIM:226980
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93926
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93924
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93925
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:220386
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93926
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93924
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93925
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:220386
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93926
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93924
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93925
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:220386
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93926
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93924
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93925
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:220386
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93926
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93924
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93925
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:220386
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93926
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93924
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93925
HP:0001373	Joint dislocation	6469	SHH	ORPHA:220386
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93926
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93924
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93925
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:220386
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93926
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93924
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93925
HP:0001373	Joint dislocation	6491	STIL	ORPHA:220386
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93926
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93924
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93925
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:220386
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93926
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93924
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93925
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:220386
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93926
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93924
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93925
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:220386
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93926
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93924
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93925
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:220386
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93926
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93924
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93925
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:220386
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93926
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93924
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93925
HP:0001373	Joint dislocation	50937	CDON	ORPHA:220386
HP:0001373	Joint dislocation	2260	FGFR1	ORPHA:93924
HP:0001373	Joint dislocation	2260	FGFR1	ORPHA:220386
HP:0001373	Joint dislocation	23007	PLCH1	ORPHA:93925
HP:0001373	Joint dislocation	10735	STAG2	ORPHA:93925
HP:0001373	Joint dislocation	10735	STAG2	ORPHA:220386
HP:0001373	Joint dislocation	53834	FGFRL1	OMIM:194190
HP:0001373	Joint dislocation	1487	CTBP1	OMIM:194190
HP:0001373	Joint dislocation	3954	LETM1	OMIM:194190
HP:0001373	Joint dislocation	7468	NSD2	OMIM:194190
HP:0001373	Joint dislocation	10815	CPLX1	OMIM:194190
HP:0001373	Joint dislocation	64374	SIL1	ORPHA:559
HP:0001373	Joint dislocation	51763	INPP5K	ORPHA:559
HP:0001373	Joint dislocation	9487	PIGL	ORPHA:3474
HP:0001373	Joint dislocation	55644	OSGEP	OMIM:617729
HP:0001373	Joint dislocation	2697	GJA1	OMIM:164200
HP:0001373	Joint dislocation	2313	FLI1	ORPHA:2308
HP:0001373	Joint dislocation	538	ATP7A	ORPHA:198
HP:0001373	Joint dislocation	57003	CCDC47	OMIM:618268
HP:0001373	Joint dislocation	1861	TOR1A	OMIM:618947
HP:0001373	Joint dislocation	3098	HK1	OMIM:618547
HP:0001373	Joint dislocation	6608	SMO	OMIM:241800
HP:0001373	Joint dislocation	81031	SLC2A10	ORPHA:3342
HP:0001373	Joint dislocation	4796	TONSL	ORPHA:93357
HP:0001373	Joint dislocation	5728	PTEN	ORPHA:744
HP:0001373	Joint dislocation	207	AKT1	ORPHA:744
HP:0001373	Joint dislocation	6558	SLC12A2	OMIM:619083
HP:0001373	Joint dislocation	10269	ZMPSTE24	ORPHA:740
HP:0001373	Joint dislocation	78989	COLEC11	OMIM:265050
HP:0001373	Joint dislocation	78989	COLEC11	ORPHA:293843
HP:0001373	Joint dislocation	3251	HPRT1	OMIM:300322
HP:0001373	Joint dislocation	51360	MBTPS2	OMIM:308205
HP:0001373	Joint dislocation	7140	TNNT3	OMIM:618435
HP:0001373	Joint dislocation	113246	C12orf57	OMIM:218340
HP:0001373	Joint dislocation	7030	TFE3	OMIM:301066
HP:0001373	Joint dislocation	10516	FBLN5	ORPHA:90348
HP:0001373	Joint dislocation	10516	FBLN5	ORPHA:90349
HP:0001373	Joint dislocation	30008	EFEMP2	ORPHA:90349
HP:0001373	Joint dislocation	55681	SCYL2	ORPHA:1143
HP:0001373	Joint dislocation	84570	COL25A1	ORPHA:1143
HP:0001373	Joint dislocation	57222	ERGIC1	ORPHA:1143
HP:0001373	Joint dislocation	92344	GORAB	ORPHA:2078
HP:0001373	Joint dislocation	10584	COLEC10	ORPHA:293843
HP:0001373	Joint dislocation	5648	MASP1	ORPHA:293843
HP:0001373	Joint dislocation	9775	EIF4A3	OMIM:268305
HP:0001373	Joint dislocation	81603	TRIM8	OMIM:619428
HP:0001373	Joint dislocation	3207	HOXA11	OMIM:605432
HP:0001373	Joint dislocation	375	ARF1	ORPHA:98892
HP:0001373	Joint dislocation	4131	MAP1B	ORPHA:98892
HP:0001373	Joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0001373	Joint dislocation	160418	TMTC3	ORPHA:98892
HP:0001373	Joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0001373	Joint dislocation	55780	ERMARD	ORPHA:98892
HP:0001373	Joint dislocation	50515	CHST11	OMIM:618167
HP:0001373	Joint dislocation	1387	CREBBP	OMIM:180849
HP:0001373	Joint dislocation	1387	CREBBP	ORPHA:353277
HP:0001373	Joint dislocation	1387	CREBBP	ORPHA:353281
HP:0001373	Joint dislocation	2033	EP300	OMIM:180849
HP:0001373	Joint dislocation	2033	EP300	ORPHA:353284
HP:0001373	Joint dislocation	7528	YY1	OMIM:617557
HP:0001373	Joint dislocation	4010	LMX1B	ORPHA:2614
HP:0001373	Joint dislocation	4010	LMX1B	OMIM:161200
HP:0001373	Joint dislocation	4010	LMX1B	ORPHA:495818
HP:0001373	Joint dislocation	91461	PKDCC	OMIM:618821
HP:0001373	Joint dislocation	6804	STX1A	ORPHA:904
HP:0001373	Joint dislocation	7461	CLIP2	ORPHA:904
HP:0001373	Joint dislocation	84277	DNAJC30	ORPHA:904
HP:0001373	Joint dislocation	8468	FKBP6	ORPHA:904
HP:0001373	Joint dislocation	5982	RFC2	ORPHA:904
HP:0001373	Joint dislocation	2969	GTF2I	ORPHA:904
HP:0001373	Joint dislocation	3984	LIMK1	ORPHA:904
HP:0001373	Joint dislocation	9569	GTF2IRD1	ORPHA:904
HP:0001373	Joint dislocation	155382	VPS37D	ORPHA:904
HP:0001373	Joint dislocation	155368	METTL27	ORPHA:904
HP:0001373	Joint dislocation	114049	BUD23	ORPHA:904
HP:0001373	Joint dislocation	7458	EIF4H	ORPHA:904
HP:0001373	Joint dislocation	84163	GTF2IRD2	ORPHA:904
HP:0001373	Joint dislocation	9275	BCL7B	ORPHA:904
HP:0001373	Joint dislocation	26608	TBL2	ORPHA:904
HP:0001373	Joint dislocation	653361	NCF1	ORPHA:904
HP:0001373	Joint dislocation	135886	TMEM270	ORPHA:904
HP:0001373	Joint dislocation	51085	MLXIPL	ORPHA:904
HP:0001373	Joint dislocation	9031	BAZ1B	ORPHA:904
HP:0001373	Joint dislocation	2006	ELN	ORPHA:904
HP:0001373	Joint dislocation	9496	TBX4	OMIM:147891
HP:0001373	Joint dislocation	9939	RBM8A	ORPHA:3320
HP:0001373	Joint dislocation	9939	RBM8A	OMIM:274000
HP:0001373	Joint dislocation	8200	GDF5	ORPHA:968
HP:0001373	Joint dislocation	8200	GDF5	OMIM:228900
HP:0001373	Joint dislocation	1312	COMT	ORPHA:567
HP:0001373	Joint dislocation	221037	JMJD1C	ORPHA:567
HP:0001373	Joint dislocation	2812	GP1BB	ORPHA:567
HP:0001373	Joint dislocation	6239	RREB1	ORPHA:567
HP:0001373	Joint dislocation	6899	TBX1	ORPHA:567
HP:0001373	Joint dislocation	6899	TBX1	OMIM:188400
HP:0001373	Joint dislocation	7290	HIRA	ORPHA:567
HP:0001373	Joint dislocation	9632	SEC24C	ORPHA:567
HP:0001373	Joint dislocation	7353	UFD1	ORPHA:567
HP:0001373	Joint dislocation	421	ARVCF	ORPHA:567
HP:0001373	Joint dislocation	10682	EBP	OMIM:302960
HP:0001373	Joint dislocation	10682	EBP	ORPHA:35173
HP:0001373	Joint dislocation	54928	BPNT2	OMIM:614078
HP:0001373	Joint dislocation	2535	FZD2	ORPHA:93328
HP:0001373	Joint dislocation	6812	STXBP1	ORPHA:495818
HP:0001373	Joint dislocation	2201	FBN2	OMIM:121050
HP:0001373	Joint dislocation	4853	NOTCH2	ORPHA:955
HP:0001373	Joint dislocation	4952	OCRL	ORPHA:534
HP:0001373	Joint dislocation	23476	BRD4	ORPHA:199
HP:0001373	Joint dislocation	9126	SMC3	ORPHA:199
HP:0001373	Joint dislocation	8243	SMC1A	ORPHA:199
HP:0001373	Joint dislocation	25836	NIPBL	ORPHA:199
HP:0001373	Joint dislocation	55869	HDAC8	ORPHA:199
HP:0001373	Joint dislocation	5885	RAD21	ORPHA:199
HP:0001373	Joint dislocation	1857	DVL3	ORPHA:3107
HP:0001373	Joint dislocation	7474	WNT5A	ORPHA:3107
HP:0001373	Joint dislocation	1855	DVL1	ORPHA:3107
HP:0001373	Joint dislocation	9241	NOG	ORPHA:3250
HP:0001373	Joint dislocation	9555	MACROH2A1	ORPHA:1275
HP:0001373	Joint dislocation	5307	PITX1	ORPHA:1275
HP:0001373	Joint dislocation	4038	LRP4	ORPHA:3258
HP:0001373	Joint dislocation	324	APC	ORPHA:3258
HP:0001373	Joint dislocation	4998	ORC1	OMIM:224690
HP:0001373	Joint dislocation	4998	ORC1	ORPHA:2554
HP:0001373	Joint dislocation	64359	NXN	ORPHA:1507
HP:0001373	Joint dislocation	4920	ROR2	ORPHA:1507
HP:0001373	Joint dislocation	81620	CDT1	ORPHA:2554
HP:0001373	Joint dislocation	5000	ORC4	ORPHA:2554
HP:0001373	Joint dislocation	23594	ORC6	ORPHA:2554
HP:0001373	Joint dislocation	8318	CDC45	ORPHA:2554
HP:0001373	Joint dislocation	990	CDC6	ORPHA:2554
HP:0001373	Joint dislocation	990	CDC6	OMIM:613805
HP:0001373	Joint dislocation	51053	GMNN	ORPHA:2554
HP:0001373	Joint dislocation	64093	SMOC1	ORPHA:1106
HP:0001373	Joint dislocation	6473	SHOX	ORPHA:240
HP:0001373	Joint dislocation	2200	FBN1	ORPHA:2462
HP:0001373	Joint dislocation	6497	SKI	ORPHA:2462
HP:0001373	Joint dislocation	85301	COL27A1	OMIM:615155
HP:0001373	Joint dislocation	145258	GSC	OMIM:602471
HP:0001373	Joint dislocation	10847	SRCAP	OMIM:136140
HP:0001373	Joint dislocation	10847	SRCAP	ORPHA:2044
HP:0001373	Joint dislocation	91179	SCARF2	OMIM:600920
HP:0001373	Joint dislocation	2137	EXTL3	OMIM:617425
HP:0001373	Joint dislocation	6662	SOX9	OMIM:114290
HP:0001373	Joint dislocation	2067	ERCC1	OMIM:610758
HP:0001373	Joint dislocation	57492	ARID1B	OMIM:135900
HP:0001373	Joint dislocation	3899	AFF3	OMIM:619297
HP:0001373	Joint dislocation	3897	L1CAM	OMIM:304100
HP:0001373	Joint dislocation	91252	SLC39A13	OMIM:612350
HP:0001373	Joint dislocation	545	ATR	OMIM:210600
HP:0001373	Joint dislocation	649	BMP1	OMIM:614856
HP:0001373	Joint dislocation	29980	DONSON	OMIM:617604
HP:0001373	Joint dislocation	5573	PRKAR1A	OMIM:101800
HP:0001373	Joint dislocation	57167	SALL4	OMIM:607323
HP:0001373	Joint dislocation	2317	FLNB	OMIM:150250
HP:0001373	Joint dislocation	165	AEBP1	ORPHA:536532
HP:0001373	Joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0001373	Joint dislocation	79989	IFT56	OMIM:619534
HP:0001373	Joint dislocation	84068	SLC10A7	OMIM:618363
HP:0001373	Joint dislocation	23443	SLC35A3	OMIM:615553
HP:0001373	Joint dislocation	23443	SLC35A3	ORPHA:370943
HP:0001373	Joint dislocation	347734	SLC35B2	OMIM:620269
HP:0001373	Joint dislocation	10586	MAB21L2	OMIM:615877
HP:0001373	Joint dislocation	5567	PRKACB	OMIM:619143
HP:0001373	Joint dislocation	9935	MAFB	OMIM:166300
HP:0001373	Joint dislocation	10082	GPC6	OMIM:258315
HP:0001373	Joint dislocation	387733	IFITM5	OMIM:610967
HP:0001373	Joint dislocation	23345	SYNE1	ORPHA:319332
HP:0001373	Joint dislocation	1303	COL12A1	ORPHA:536516
HP:0001373	Joint dislocation	9894	TELO2	ORPHA:488642
HP:0001373	Joint dislocation	57477	SHROOM4	ORPHA:85288
HP:0001373	Joint dislocation	2192	FBLN1	ORPHA:404451
HP:0001373	Joint dislocation	8218	CLTCL1	ORPHA:453510
HP:0001373	Joint dislocation	55699	IARS2	OMIM:616007
HP:0001373	Joint dislocation	1836	SLC26A2	ORPHA:93307
HP:0001373	Joint dislocation	6913	TBX15	OMIM:260660
HP:0001373	Joint dislocation	9759	HDAC4	OMIM:619797
HP:0001373	Joint dislocation	26229	B3GAT3	OMIM:245600
HP:0001373	Joint dislocation	126792	B3GALT6	ORPHA:536467
HP:0001373	Joint dislocation	2783	GNB2	OMIM:619503
HP:0001373	Joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0001373	Joint dislocation	23233	EXOC6B	OMIM:618395
HP:0001373	Joint dislocation	64412	GZF1	OMIM:617662
HP:0001373	Joint dislocation	7319	UBE2A	ORPHA:163956
HP:0001373	Joint dislocation	4000	LMNA	OMIM:212112
HP:0001373	Joint dislocation	113189	CHST14	ORPHA:2953
HP:0001373	Joint dislocation	29940	DSE	ORPHA:2953
HP:0001373	Joint dislocation	1277	COL1A1	OMIM:619115
HP:0001373	Joint dislocation	10526	IPO8	OMIM:619472
HP:0008479	Hypoplastic vertebral bodies	79848	CSPP1	ORPHA:397715
HP:0008479	Hypoplastic vertebral bodies	9786	KIAA0586	ORPHA:397715
HP:0008479	Hypoplastic vertebral bodies	90	ACVR1	OMIM:135100
HP:0008479	Hypoplastic vertebral bodies	3930	LBR	OMIM:215140
HP:0008479	Hypoplastic vertebral bodies	5573	PRKAR1A	ORPHA:280651
HP:0008479	Hypoplastic vertebral bodies	5573	PRKAR1A	OMIM:101800
HP:0008479	Hypoplastic vertebral bodies	5144	PDE4D	ORPHA:280651
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	OMIM:258480
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	ORPHA:2746
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	ORPHA:3144
HP:0008479	Hypoplastic vertebral bodies	60561	RINT1	OMIM:618641
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	OMIM:230500
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	OMIM:230600
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	ORPHA:79255
HP:0008479	Hypoplastic vertebral bodies	10312	TCIRG1	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	55315	SLC29A3	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	8792	TNFRSF11A	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	23169	SLC35D1	ORPHA:3144
HP:0008479	Hypoplastic vertebral bodies	2799	GNS	OMIM:252940
HP:0008479	Hypoplastic vertebral bodies	11128	POLR3A	ORPHA:3455
HP:0008479	Hypoplastic vertebral bodies	81839	VANGL1	ORPHA:3027
HP:0008479	Hypoplastic vertebral bodies	80199	FUZ	ORPHA:3027
HP:0008479	Hypoplastic vertebral bodies	285362	SUMF1	OMIM:272200
HP:0001387	Joint stiffness	26191	PTPN22	ORPHA:397
HP:0001387	Joint stiffness	26191	PTPN22	ORPHA:85408
HP:0001387	Joint stiffness	26191	PTPN22	OMIM:180300
HP:0001387	Joint stiffness	3106	HLA-B	ORPHA:397
HP:0001387	Joint stiffness	3106	HLA-B	ORPHA:29207
HP:0001387	Joint stiffness	3123	HLA-DRB1	ORPHA:397
HP:0001387	Joint stiffness	8974	P4HA2	ORPHA:397
HP:0001387	Joint stiffness	875	CBS	ORPHA:394
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:2053
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:1147
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:1146
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:2053
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:1147
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:1146
HP:0001387	Joint stiffness	6910	TBX5	ORPHA:392
HP:0001387	Joint stiffness	8838	CCN6	OMIM:208230
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:1885
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:969
HP:0001387	Joint stiffness	2200	FBN1	OMIM:614185
HP:0001387	Joint stiffness	2200	FBN1	OMIM:608328
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:2462
HP:0001387	Joint stiffness	54507	ADAMTSL4	ORPHA:1885
HP:0001387	Joint stiffness	4204	MECP2	ORPHA:1762
HP:0001387	Joint stiffness	2316	FLNA	OMIM:314400
HP:0001387	Joint stiffness	118429	ANTXR2	ORPHA:2176
HP:0001387	Joint stiffness	118429	ANTXR2	ORPHA:2028
HP:0001387	Joint stiffness	2720	GLB1	OMIM:230600
HP:0001387	Joint stiffness	2720	GLB1	OMIM:253010
HP:0001387	Joint stiffness	2720	GLB1	OMIM:230500
HP:0001387	Joint stiffness	3248	HPGD	ORPHA:1525
HP:0001387	Joint stiffness	81839	VANGL1	ORPHA:3027
HP:0001387	Joint stiffness	80199	FUZ	ORPHA:3027
HP:0001387	Joint stiffness	4125	MAN2B1	ORPHA:309282
HP:0001387	Joint stiffness	6775	STAT4	ORPHA:85408
HP:0001387	Joint stiffness	3560	IL2RB	ORPHA:85408
HP:0001387	Joint stiffness	79722	ANKRD55	ORPHA:85408
HP:0001387	Joint stiffness	919	CD247	ORPHA:85408
HP:0001387	Joint stiffness	3559	IL2RA	ORPHA:85408
HP:0001387	Joint stiffness	5771	PTPN2	ORPHA:85408
HP:0001387	Joint stiffness	72	ACTG2	ORPHA:2604
HP:0001387	Joint stiffness	224	ALDH3A2	ORPHA:816
HP:0001387	Joint stiffness	2314	FLII	ORPHA:819
HP:0001387	Joint stiffness	23096	IQSEC2	ORPHA:819
HP:0001387	Joint stiffness	10743	RAI1	ORPHA:819
HP:0001387	Joint stiffness	10522	DEAF1	ORPHA:819
HP:0001387	Joint stiffness	4000	LMNA	OMIM:248370
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:98855
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:98853
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:740
HP:0001387	Joint stiffness	84572	GNPTG	OMIM:252605
HP:0001387	Joint stiffness	65082	VPS33A	ORPHA:505248
HP:0001387	Joint stiffness	5745	PTH1R	ORPHA:296
HP:0001387	Joint stiffness	3418	IDH2	ORPHA:296
HP:0001387	Joint stiffness	3417	IDH1	ORPHA:296
HP:0001387	Joint stiffness	170691	ADAMTS17	OMIM:613195
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:616583
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:108300
HP:0001387	Joint stiffness	1280	COL2A1	ORPHA:485
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:604864
HP:0001387	Joint stiffness	1280	COL2A1	ORPHA:166011
HP:0001387	Joint stiffness	5119	CHMP1A	OMIM:614961
HP:0001387	Joint stiffness	2261	FGFR3	ORPHA:1860
HP:0001387	Joint stiffness	9927	MFN2	ORPHA:2398
HP:0001387	Joint stiffness	340061	STING1	OMIM:615934
HP:0001387	Joint stiffness	4054	LTBP3	ORPHA:969
HP:0001387	Joint stiffness	546	ATRX	ORPHA:847
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:968
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:3237
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:2098
HP:0001387	Joint stiffness	222663	SCUBE3	OMIM:619184
HP:0001387	Joint stiffness	1311	COMP	OMIM:132400
HP:0001387	Joint stiffness	1311	COMP	ORPHA:93308
HP:0001387	Joint stiffness	1311	COMP	ORPHA:750
HP:0001387	Joint stiffness	3425	IDUA	OMIM:607014
HP:0001387	Joint stiffness	3425	IDUA	OMIM:607015
HP:0001387	Joint stiffness	3425	IDUA	ORPHA:93474
HP:0001387	Joint stiffness	175	AGA	ORPHA:93
HP:0001387	Joint stiffness	9241	NOG	ORPHA:3237
HP:0001387	Joint stiffness	2254	FGF9	ORPHA:3237
HP:0001387	Joint stiffness	81794	ADAMTS10	OMIM:277600
HP:0001387	Joint stiffness	112476	PRRT2	ORPHA:98810
HP:0001387	Joint stiffness	25953	PNKD	ORPHA:98810
HP:0001387	Joint stiffness	10585	POMT1	OMIM:609308
HP:0001387	Joint stiffness	4318	MMP9	ORPHA:1040
HP:0001387	Joint stiffness	4322	MMP13	ORPHA:1040
HP:0001387	Joint stiffness	6804	STX1A	ORPHA:904
HP:0001387	Joint stiffness	7461	CLIP2	ORPHA:904
HP:0001387	Joint stiffness	84277	DNAJC30	ORPHA:904
HP:0001387	Joint stiffness	8468	FKBP6	ORPHA:904
HP:0001387	Joint stiffness	5982	RFC2	ORPHA:904
HP:0001387	Joint stiffness	2969	GTF2I	ORPHA:904
HP:0001387	Joint stiffness	3984	LIMK1	ORPHA:904
HP:0001387	Joint stiffness	9569	GTF2IRD1	ORPHA:904
HP:0001387	Joint stiffness	155382	VPS37D	ORPHA:904
HP:0001387	Joint stiffness	155368	METTL27	ORPHA:904
HP:0001387	Joint stiffness	114049	BUD23	ORPHA:904
HP:0001387	Joint stiffness	7458	EIF4H	ORPHA:904
HP:0001387	Joint stiffness	84163	GTF2IRD2	ORPHA:904
HP:0001387	Joint stiffness	9275	BCL7B	ORPHA:904
HP:0001387	Joint stiffness	26608	TBL2	ORPHA:904
HP:0001387	Joint stiffness	653361	NCF1	ORPHA:904
HP:0001387	Joint stiffness	135886	TMEM270	ORPHA:904
HP:0001387	Joint stiffness	51085	MLXIPL	ORPHA:904
HP:0001387	Joint stiffness	9031	BAZ1B	ORPHA:904
HP:0001387	Joint stiffness	2006	ELN	ORPHA:904
HP:0001387	Joint stiffness	5590	PRKCZ	ORPHA:1606
HP:0001387	Joint stiffness	2563	GABRD	ORPHA:1606
HP:0001387	Joint stiffness	23013	SPEN	ORPHA:1606
HP:0001387	Joint stiffness	8510	MMP23B	ORPHA:1606
HP:0001387	Joint stiffness	7798	LUZP1	ORPHA:1606
HP:0001387	Joint stiffness	6497	SKI	ORPHA:1606
HP:0001387	Joint stiffness	6497	SKI	ORPHA:2462
HP:0001387	Joint stiffness	10630	PDPN	ORPHA:1606
HP:0001387	Joint stiffness	3339	HSPG2	ORPHA:1606
HP:0001387	Joint stiffness	3339	HSPG2	ORPHA:800
HP:0001387	Joint stiffness	10277	UBE4B	ORPHA:1606
HP:0001387	Joint stiffness	8514	KCNAB2	ORPHA:1606
HP:0001387	Joint stiffness	473	RERE	ORPHA:1606
HP:0001387	Joint stiffness	63976	PRDM16	ORPHA:1606
HP:0001387	Joint stiffness	54897	CASZ1	ORPHA:1606
HP:0001387	Joint stiffness	493856	CISD2	ORPHA:3463
HP:0001387	Joint stiffness	7466	WFS1	ORPHA:3463
HP:0001387	Joint stiffness	9719	ADAMTSL2	OMIM:231050
HP:0001387	Joint stiffness	9719	ADAMTSL2	ORPHA:1901
HP:0001387	Joint stiffness	7486	WRN	ORPHA:902
HP:0001387	Joint stiffness	285362	SUMF1	ORPHA:585
HP:0001387	Joint stiffness	2990	GUSB	ORPHA:584
HP:0001387	Joint stiffness	2990	GUSB	OMIM:253220
HP:0001387	Joint stiffness	4089	SMAD4	OMIM:139210
HP:0001387	Joint stiffness	4089	SMAD4	ORPHA:2588
HP:0001387	Joint stiffness	10436	EMG1	ORPHA:1270
HP:0001387	Joint stiffness	9555	MACROH2A1	ORPHA:1275
HP:0001387	Joint stiffness	5307	PITX1	ORPHA:1275
HP:0001387	Joint stiffness	63895	PIEZO2	ORPHA:1154
HP:0001387	Joint stiffness	63895	PIEZO2	ORPHA:2461
HP:0001387	Joint stiffness	7140	TNNT3	ORPHA:1147
HP:0001387	Joint stiffness	7140	TNNT3	ORPHA:1146
HP:0001387	Joint stiffness	7169	TPM2	ORPHA:1147
HP:0001387	Joint stiffness	7169	TPM2	ORPHA:1146
HP:0001387	Joint stiffness	7136	TNNI2	ORPHA:1147
HP:0001387	Joint stiffness	7136	TNNI2	ORPHA:1146
HP:0001387	Joint stiffness	23483	TGDS	ORPHA:1388
HP:0001387	Joint stiffness	4604	MYBPC1	ORPHA:1146
HP:0001387	Joint stiffness	654	BMP6	ORPHA:465508
HP:0001387	Joint stiffness	3077	HFE	ORPHA:465508
HP:0001387	Joint stiffness	4882	NPR2	ORPHA:40
HP:0001387	Joint stiffness	100151683	RNU4ATAC	ORPHA:1824
HP:0001387	Joint stiffness	6583	SLC22A4	OMIM:180300
HP:0001387	Joint stiffness	4261	CIITA	OMIM:180300
HP:0001387	Joint stiffness	51744	CD244	OMIM:180300
HP:0001387	Joint stiffness	4795	NFKBIL1	OMIM:180300
HP:0001387	Joint stiffness	3586	IL10	OMIM:180300
HP:0001387	Joint stiffness	2273	FHL1	ORPHA:98863
HP:0001387	Joint stiffness	2010	EMD	ORPHA:98863
HP:0001387	Joint stiffness	60681	FKBP10	ORPHA:1149
HP:0001387	Joint stiffness	60681	FKBP10	ORPHA:2771
HP:0001387	Joint stiffness	64324	NSD1	ORPHA:3447
HP:0001387	Joint stiffness	8726	EED	ORPHA:3447
HP:0001387	Joint stiffness	23512	SUZ12	ORPHA:3447
HP:0001387	Joint stiffness	2146	EZH2	ORPHA:3447
HP:0001387	Joint stiffness	3081	HGD	ORPHA:56
HP:0001387	Joint stiffness	10262	SF3B4	ORPHA:245
HP:0001387	Joint stiffness	6473	SHOX	ORPHA:240
HP:0001387	Joint stiffness	57724	EPG5	ORPHA:1493
HP:0001387	Joint stiffness	23592	LEMD3	OMIM:166700
HP:0001387	Joint stiffness	23592	LEMD3	ORPHA:166119
HP:0001387	Joint stiffness	23592	LEMD3	ORPHA:1306
HP:0001387	Joint stiffness	2201	FBN2	ORPHA:115
HP:0001387	Joint stiffness	79188	TMEM43	ORPHA:98853
HP:0001387	Joint stiffness	23345	SYNE1	ORPHA:98853
HP:0001387	Joint stiffness	23224	SYNE2	ORPHA:98853
HP:0001387	Joint stiffness	6448	SGSH	OMIM:252900
HP:0001387	Joint stiffness	256297	PTF1A	OMIM:609069
HP:0001387	Joint stiffness	4148	MATN3	ORPHA:93311
HP:0001387	Joint stiffness	79650	USB1	OMIM:604173
HP:0001387	Joint stiffness	411	ARSB	OMIM:253200
HP:0001387	Joint stiffness	443	ASPA	ORPHA:314911
HP:0001387	Joint stiffness	4952	OCRL	ORPHA:534
HP:0001387	Joint stiffness	5077	PAX3	ORPHA:896
HP:0001387	Joint stiffness	2068	ERCC2	ORPHA:1466
HP:0001387	Joint stiffness	2067	ERCC1	ORPHA:1466
HP:0001387	Joint stiffness	2074	ERCC6	ORPHA:1466
HP:0001387	Joint stiffness	2073	ERCC5	ORPHA:1466
HP:0001387	Joint stiffness	9509	ADAMTS2	ORPHA:1901
HP:0001387	Joint stiffness	2743	GLRB	ORPHA:3197
HP:0001387	Joint stiffness	2741	GLRA1	ORPHA:3197
HP:0001387	Joint stiffness	10243	GPHN	ORPHA:3197
HP:0001387	Joint stiffness	84896	ATAD1	ORPHA:3197
HP:0001387	Joint stiffness	9152	SLC6A5	ORPHA:3197
HP:0001387	Joint stiffness	8883	NAE1	OMIM:620210
HP:0001387	Joint stiffness	57167	SALL4	ORPHA:2307
HP:0001387	Joint stiffness	59341	TRPV4	ORPHA:1216
HP:0001387	Joint stiffness	59341	TRPV4	ORPHA:2635
HP:0001387	Joint stiffness	23476	BRD4	ORPHA:199
HP:0001387	Joint stiffness	9126	SMC3	ORPHA:199
HP:0001387	Joint stiffness	8243	SMC1A	ORPHA:199
HP:0001387	Joint stiffness	25836	NIPBL	ORPHA:199
HP:0001387	Joint stiffness	55869	HDAC8	ORPHA:199
HP:0001387	Joint stiffness	5885	RAD21	ORPHA:199
HP:0001387	Joint stiffness	4659	PPP1R12A	OMIM:618820
HP:0001387	Joint stiffness	285590	SH3PXD2B	ORPHA:137834
HP:0001387	Joint stiffness	658	BMPR1B	ORPHA:2098
HP:0001387	Joint stiffness	5352	PLOD2	ORPHA:2771
HP:0001387	Joint stiffness	5728	PTEN	ORPHA:744
HP:0001387	Joint stiffness	207	AKT1	ORPHA:744
HP:0001387	Joint stiffness	10269	ZMPSTE24	ORPHA:740
HP:0001387	Joint stiffness	10651	MTX2	OMIM:619127
HP:0001387	Joint stiffness	54676	GTPBP2	OMIM:617988
HP:0001387	Joint stiffness	2799	GNS	OMIM:252940
HP:0001387	Joint stiffness	50515	CHST11	OMIM:618167
HP:0001387	Joint stiffness	3889	KRT83	OMIM:617756
HP:0001387	Joint stiffness	3664	IRF6	ORPHA:1300
HP:0001387	Joint stiffness	8815	BANF1	OMIM:614008
HP:0001387	Joint stiffness	138050	HGSNAT	OMIM:252930
HP:0001387	Joint stiffness	22930	RAB3GAP1	ORPHA:2510
HP:0001387	Joint stiffness	25782	RAB3GAP2	ORPHA:2510
HP:0001387	Joint stiffness	22931	RAB18	ORPHA:2510
HP:0001387	Joint stiffness	128637	TBC1D20	ORPHA:2510
HP:0001387	Joint stiffness	71	ACTG1	ORPHA:2995
HP:0001387	Joint stiffness	60	ACTB	ORPHA:2995
HP:0001387	Joint stiffness	3897	L1CAM	ORPHA:2182
HP:0001387	Joint stiffness	3636	INPPL1	ORPHA:2746
HP:0001387	Joint stiffness	5130	PCYT1A	OMIM:608940
HP:0001387	Joint stiffness	54829	ASPN	OMIM:607850
HP:0001387	Joint stiffness	4669	NAGLU	OMIM:252920
HP:0001387	Joint stiffness	4053	LTBP2	OMIM:614819
HP:0001387	Joint stiffness	1278	COL1A2	ORPHA:1899
HP:0001387	Joint stiffness	1277	COL1A1	ORPHA:1899
HP:0001387	Joint stiffness	10216	PRG4	OMIM:208250
HP:0001387	Joint stiffness	9401	RECQL4	OMIM:266280
HP:0001387	Joint stiffness	91754	NEK9	OMIM:617022
HP:0001387	Joint stiffness	4722	NDUFS3	OMIM:618230
HP:0001387	Joint stiffness	22943	DKK1	ORPHA:268882
HP:0001387	Joint stiffness	54820	NDE1	ORPHA:2177
HP:0001387	Joint stiffness	6926	TBX3	OMIM:181450
HP:0001387	Joint stiffness	26040	SETBP1	ORPHA:798
HP:0001387	Joint stiffness	8398	PLA2G6	ORPHA:199351
HP:0001387	Joint stiffness	6399	TRAPPC2	ORPHA:93284
HP:0001387	Joint stiffness	1836	SLC26A2	ORPHA:93307
HP:0002777	Tracheal stenosis	699	BUB1	OMIM:620183
HP:0002777	Tracheal stenosis	6023	RMRP	ORPHA:175
HP:0002777	Tracheal stenosis	341640	FREM2	ORPHA:2052
HP:0002777	Tracheal stenosis	80144	FRAS1	ORPHA:2052
HP:0002777	Tracheal stenosis	23426	GRIP1	ORPHA:2052
HP:0002777	Tracheal stenosis	5116	PCNT	ORPHA:2637
HP:0002777	Tracheal stenosis	6885	MAP3K7	OMIM:617137
HP:0002777	Tracheal stenosis	3766	KCNJ10	ORPHA:705
HP:0002777	Tracheal stenosis	2299	FOXI1	ORPHA:705
HP:0002777	Tracheal stenosis	5172	SLC26A4	ORPHA:705
HP:0002777	Tracheal stenosis	9719	ADAMTSL2	OMIM:231050
HP:0002777	Tracheal stenosis	65992	DDRGK1	ORPHA:93352
HP:0002777	Tracheal stenosis	7473	WNT3	ORPHA:3301
HP:0002777	Tracheal stenosis	340419	RSPO2	ORPHA:3301
HP:0002777	Tracheal stenosis	219844	HYLS1	OMIM:236680
HP:0002777	Tracheal stenosis	415	ARSL	ORPHA:79345
HP:0002777	Tracheal stenosis	3239	HOXD13	ORPHA:887
HP:0002777	Tracheal stenosis	10682	EBP	OMIM:302960
HP:0002777	Tracheal stenosis	9839	ZEB2	ORPHA:261537
HP:0002777	Tracheal stenosis	9839	ZEB2	ORPHA:261552
HP:0002777	Tracheal stenosis	1717	DHCR7	ORPHA:818
HP:0002777	Tracheal stenosis	3425	IDUA	OMIM:607015
HP:0002777	Tracheal stenosis	4054	LTBP3	OMIM:617809
HP:0002777	Tracheal stenosis	2137	EXTL3	ORPHA:508533
HP:0002777	Tracheal stenosis	1836	SLC26A2	OMIM:222600
HP:0002777	Tracheal stenosis	4089	SMAD4	OMIM:139210
HP:0002777	Tracheal stenosis	2317	FLNB	ORPHA:1190
HP:0002777	Tracheal stenosis	374654	KIF7	ORPHA:2189
HP:0002777	Tracheal stenosis	4256	MGP	ORPHA:85202
HP:0002778	Abnormal tracheal morphology	2294	FOXF1	OMIM:265380
HP:0002778	Abnormal tracheal morphology	2294	FOXF1	ORPHA:210122
HP:0002778	Abnormal tracheal morphology	2187	FANCB	OMIM:300514
HP:0002778	Abnormal tracheal morphology	2187	FANCB	OMIM:314390
HP:0002778	Abnormal tracheal morphology	2187	FANCB	ORPHA:3412
HP:0002778	Abnormal tracheal morphology	2187	FANCB	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10054	UBA2	OMIM:619959
HP:0002778	Abnormal tracheal morphology	6804	STX1A	ORPHA:904
HP:0002778	Abnormal tracheal morphology	7461	CLIP2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	84277	DNAJC30	ORPHA:904
HP:0002778	Abnormal tracheal morphology	8468	FKBP6	ORPHA:904
HP:0002778	Abnormal tracheal morphology	5982	RFC2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	2969	GTF2I	ORPHA:904
HP:0002778	Abnormal tracheal morphology	3984	LIMK1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	9569	GTF2IRD1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	155382	VPS37D	ORPHA:904
HP:0002778	Abnormal tracheal morphology	155368	METTL27	ORPHA:904
HP:0002778	Abnormal tracheal morphology	114049	BUD23	ORPHA:904
HP:0002778	Abnormal tracheal morphology	7458	EIF4H	ORPHA:904
HP:0002778	Abnormal tracheal morphology	84163	GTF2IRD2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	9275	BCL7B	ORPHA:904
HP:0002778	Abnormal tracheal morphology	26608	TBL2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	653361	NCF1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	653361	NCF1	ORPHA:379
HP:0002778	Abnormal tracheal morphology	135886	TMEM270	ORPHA:904
HP:0002778	Abnormal tracheal morphology	51085	MLXIPL	ORPHA:904
HP:0002778	Abnormal tracheal morphology	9031	BAZ1B	ORPHA:904
HP:0002778	Abnormal tracheal morphology	2006	ELN	ORPHA:904
HP:0002778	Abnormal tracheal morphology	5979	RET	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	8516	ITGA8	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	26281	FGF20	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	2674	GFRA1	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	7484	WNT9B	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	80000	GREB1L	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	6558	SLC12A2	OMIM:619083
HP:0002778	Abnormal tracheal morphology	84172	POLR1B	ORPHA:861
HP:0002778	Abnormal tracheal morphology	9533	POLR1C	ORPHA:861
HP:0002778	Abnormal tracheal morphology	51082	POLR1D	ORPHA:861
HP:0002778	Abnormal tracheal morphology	6949	TCOF1	ORPHA:861
HP:0002778	Abnormal tracheal morphology	6299	SALL1	OMIM:107480
HP:0002778	Abnormal tracheal morphology	7547	ZIC3	OMIM:314390
HP:0002778	Abnormal tracheal morphology	55788	LMBRD1	OMIM:277380
HP:0002778	Abnormal tracheal morphology	55636	CHD7	ORPHA:138
HP:0002778	Abnormal tracheal morphology	55636	CHD7	OMIM:214800
HP:0002778	Abnormal tracheal morphology	9723	SEMA3E	ORPHA:138
HP:0002778	Abnormal tracheal morphology	1536	CYBB	ORPHA:379
HP:0002778	Abnormal tracheal morphology	4688	NCF2	ORPHA:379
HP:0002778	Abnormal tracheal morphology	1535	CYBA	ORPHA:379
HP:0002778	Abnormal tracheal morphology	4689	NCF4	ORPHA:379
HP:0002778	Abnormal tracheal morphology	79415	CYBC1	ORPHA:379
HP:0002778	Abnormal tracheal morphology	6657	SOX2	ORPHA:77298
HP:0002778	Abnormal tracheal morphology	6657	SOX2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	4854	NOTCH3	ORPHA:2591
HP:0002778	Abnormal tracheal morphology	5159	PDGFRB	ORPHA:2591
HP:0002778	Abnormal tracheal morphology	2177	FANCD2	OMIM:227646
HP:0002778	Abnormal tracheal morphology	2177	FANCD2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55120	FANCL	OMIM:614083
HP:0002778	Abnormal tracheal morphology	55120	FANCL	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10606	PAICS	OMIM:619859
HP:0002778	Abnormal tracheal morphology	7476	WNT7A	ORPHA:2879
HP:0002778	Abnormal tracheal morphology	672	BRCA1	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10459	MAD2L2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	7516	XRCC2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	29089	UBE2T	ORPHA:84
HP:0002778	Abnormal tracheal morphology	675	BRCA2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2175	FANCA	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2176	FANCC	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2178	FANCE	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2188	FANCF	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2189	FANCG	ORPHA:84
HP:0002778	Abnormal tracheal morphology	5888	RAD51	ORPHA:84
HP:0002778	Abnormal tracheal morphology	5889	RAD51C	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55159	RFWD3	ORPHA:84
HP:0002778	Abnormal tracheal morphology	83990	BRIP1	ORPHA:84
HP:0002778	Abnormal tracheal morphology	57697	FANCM	ORPHA:84
HP:0002778	Abnormal tracheal morphology	79728	PALB2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	84464	SLX4	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2072	ERCC4	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55215	FANCI	ORPHA:84
HP:0002778	Abnormal tracheal morphology	3239	HOXD13	ORPHA:887
HP:0002778	Abnormal tracheal morphology	5422	POLA1	OMIM:301030
HP:0002778	Abnormal tracheal morphology	80169	CTC1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	26277	TINF2	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55651	NHP2	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	79650	USB1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55135	WRAP53	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	51750	RTEL1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	4869	NPM1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7012	TERC	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55505	NOP10	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	5073	PARN	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7015	TERT	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	1736	DKC1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7298	TYMS	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	4281	MID1	ORPHA:2745
HP:0002778	Abnormal tracheal morphology	4613	MYCN	OMIM:164280
HP:0002778	Abnormal tracheal morphology	51729	WBP11	OMIM:619227
HP:0002778	Abnormal tracheal morphology	2260	FGFR1	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	128674	PROKR2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	6658	SOX3	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	9915	ARNT2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	8820	HESX1	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	5015	OTX2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	2201	FBN2	ORPHA:115
HP:0002778	Abnormal tracheal morphology	699	BUB1	OMIM:620183
HP:0002778	Abnormal tracheal morphology	6023	RMRP	ORPHA:175
HP:0002778	Abnormal tracheal morphology	341640	FREM2	ORPHA:2052
HP:0002778	Abnormal tracheal morphology	80144	FRAS1	ORPHA:2052
HP:0002778	Abnormal tracheal morphology	5116	PCNT	ORPHA:2637
HP:0002778	Abnormal tracheal morphology	6885	MAP3K7	OMIM:617137
HP:0002778	Abnormal tracheal morphology	3766	KCNJ10	ORPHA:705
HP:0002778	Abnormal tracheal morphology	2299	FOXI1	ORPHA:705
HP:0002778	Abnormal tracheal morphology	5172	SLC26A4	ORPHA:705
HP:0002778	Abnormal tracheal morphology	9719	ADAMTSL2	OMIM:231050
HP:0002778	Abnormal tracheal morphology	65992	DDRGK1	ORPHA:93352
HP:0002778	Abnormal tracheal morphology	7473	WNT3	ORPHA:3301
HP:0002778	Abnormal tracheal morphology	340419	RSPO2	ORPHA:3301
HP:0002778	Abnormal tracheal morphology	415	ARSL	ORPHA:79345
HP:0002778	Abnormal tracheal morphology	9839	ZEB2	ORPHA:261537
HP:0002778	Abnormal tracheal morphology	9839	ZEB2	ORPHA:261552
HP:0002778	Abnormal tracheal morphology	1717	DHCR7	ORPHA:818
HP:0002778	Abnormal tracheal morphology	3425	IDUA	OMIM:607015
HP:0002778	Abnormal tracheal morphology	4054	LTBP3	OMIM:617809
HP:0002778	Abnormal tracheal morphology	11146	GLMN	ORPHA:83454
HP:0002778	Abnormal tracheal morphology	139285	AMER1	OMIM:300373
HP:0002778	Abnormal tracheal morphology	745	MYRF	OMIM:618280
HP:0002778	Abnormal tracheal morphology	126792	B3GALT6	ORPHA:536467
HP:0002778	Abnormal tracheal morphology	23321	TRIM2	OMIM:615490
HP:0002778	Abnormal tracheal morphology	284058	KANSL1	ORPHA:363958
HP:0002778	Abnormal tracheal morphology	284058	KANSL1	ORPHA:363965
HP:0002778	Abnormal tracheal morphology	8425	LTBP4	OMIM:613177
HP:0002778	Abnormal tracheal morphology	6125	RPL5	OMIM:612561
HP:0002778	Abnormal tracheal morphology	27125	AFF4	OMIM:616368
HP:0002778	Abnormal tracheal morphology	27125	AFF4	ORPHA:444077
HP:0002778	Abnormal tracheal morphology	5396	PRRX1	OMIM:202650
HP:0002778	Abnormal tracheal morphology	9759	HDAC4	ORPHA:1001
HP:0002778	Abnormal tracheal morphology	5428	POLG	OMIM:203700
HP:0002778	Abnormal tracheal morphology	6662	SOX9	ORPHA:140
HP:0002778	Abnormal tracheal morphology	6662	SOX9	OMIM:114290
HP:0002778	Abnormal tracheal morphology	1280	COL2A1	OMIM:156550
HP:0002778	Abnormal tracheal morphology	80232	WDR26	ORPHA:513456
HP:0002778	Abnormal tracheal morphology	79813	EHMT1	ORPHA:261652
HP:0002778	Abnormal tracheal morphology	58508	KMT2C	ORPHA:261652
HP:0002778	Abnormal tracheal morphology	2077	ERF	OMIM:617180
HP:0002778	Abnormal tracheal morphology	374879	ZNF699	OMIM:619488
HP:0002778	Abnormal tracheal morphology	253959	RALGAPA1	OMIM:618797
HP:0002778	Abnormal tracheal morphology	27245	AHDC1	ORPHA:412069
HP:0002778	Abnormal tracheal morphology	8239	USP9X	OMIM:300919
HP:0002778	Abnormal tracheal morphology	79633	FAT4	OMIM:615546
HP:0002778	Abnormal tracheal morphology	79633	FAT4	ORPHA:314679
HP:0002778	Abnormal tracheal morphology	5000	ORC4	OMIM:613800
HP:0002778	Abnormal tracheal morphology	25782	RAB3GAP2	OMIM:212720
HP:0002778	Abnormal tracheal morphology	8642	DCHS1	ORPHA:314679
HP:0002778	Abnormal tracheal morphology	8642	DCHS1	OMIM:601390
HP:0002778	Abnormal tracheal morphology	3265	HRAS	OMIM:218040
HP:0002778	Abnormal tracheal morphology	29072	SETD2	OMIM:620155
HP:0002778	Abnormal tracheal morphology	23594	ORC6	OMIM:613803
HP:0002778	Abnormal tracheal morphology	5077	PAX3	ORPHA:896
HP:0002778	Abnormal tracheal morphology	168667	BMPER	OMIM:608022
HP:0002778	Abnormal tracheal morphology	222663	SCUBE3	OMIM:619184
HP:0002778	Abnormal tracheal morphology	5879	RAC1	ORPHA:500159
HP:0002778	Abnormal tracheal morphology	5879	RAC1	OMIM:617751
HP:0002778	Abnormal tracheal morphology	51053	GMNN	OMIM:616835
HP:0002778	Abnormal tracheal morphology	3423	IDS	OMIM:309900
HP:0002778	Abnormal tracheal morphology	3930	LBR	OMIM:215140
HP:0002778	Abnormal tracheal morphology	4921	DDR2	OMIM:271665
HP:0002778	Abnormal tracheal morphology	10682	EBP	ORPHA:35173
HP:0002778	Abnormal tracheal morphology	6628	SNRPB	OMIM:117650
HP:0002778	Abnormal tracheal morphology	2263	FGFR2	OMIM:101200
HP:0002778	Abnormal tracheal morphology	2137	EXTL3	ORPHA:508533
HP:0002778	Abnormal tracheal morphology	1836	SLC26A2	OMIM:222600
HP:0002778	Abnormal tracheal morphology	4089	SMAD4	OMIM:139210
HP:0002778	Abnormal tracheal morphology	2317	FLNB	ORPHA:1190
HP:0002778	Abnormal tracheal morphology	23065	EMC1	OMIM:616875
HP:0002778	Abnormal tracheal morphology	23065	EMC1	ORPHA:480898
HP:0002778	Abnormal tracheal morphology	3835	KIF22	ORPHA:93360
HP:0002778	Abnormal tracheal morphology	3098	HK1	OMIM:618547
HP:0002778	Abnormal tracheal morphology	8295	TRRAP	OMIM:618454
HP:0002778	Abnormal tracheal morphology	4796	TONSL	OMIM:271510
HP:0002778	Abnormal tracheal morphology	23426	GRIP1	OMIM:617667
HP:0002778	Abnormal tracheal morphology	219844	HYLS1	ORPHA:2189
HP:0002778	Abnormal tracheal morphology	374654	KIF7	ORPHA:2189
HP:0002778	Abnormal tracheal morphology	4256	MGP	ORPHA:85202
HP:0002779	Tracheomalacia	139285	AMER1	OMIM:300373
HP:0002779	Tracheomalacia	745	MYRF	OMIM:618280
HP:0002779	Tracheomalacia	126792	B3GALT6	ORPHA:536467
HP:0002779	Tracheomalacia	2263	FGFR2	ORPHA:93260
HP:0002779	Tracheomalacia	2263	FGFR2	ORPHA:93259
HP:0002779	Tracheomalacia	23321	TRIM2	OMIM:615490
HP:0002779	Tracheomalacia	284058	KANSL1	ORPHA:363958
HP:0002779	Tracheomalacia	284058	KANSL1	ORPHA:363965
HP:0002779	Tracheomalacia	8425	LTBP4	OMIM:613177
HP:0002779	Tracheomalacia	6125	RPL5	OMIM:612561
HP:0002779	Tracheomalacia	27125	AFF4	OMIM:616368
HP:0002779	Tracheomalacia	27125	AFF4	ORPHA:444077
HP:0002779	Tracheomalacia	5396	PRRX1	OMIM:202650
HP:0002779	Tracheomalacia	9759	HDAC4	ORPHA:1001
HP:0002779	Tracheomalacia	5428	POLG	OMIM:203700
HP:0002779	Tracheomalacia	6662	SOX9	ORPHA:140
HP:0002779	Tracheomalacia	6662	SOX9	OMIM:114290
HP:0002779	Tracheomalacia	1280	COL2A1	OMIM:156550
HP:0002779	Tracheomalacia	80232	WDR26	ORPHA:513456
HP:0002779	Tracheomalacia	79813	EHMT1	ORPHA:261652
HP:0002779	Tracheomalacia	58508	KMT2C	ORPHA:261652
HP:0002779	Tracheomalacia	2077	ERF	OMIM:617180
HP:0002779	Tracheomalacia	6628	SNRPB	ORPHA:1393
HP:0002779	Tracheomalacia	2317	FLNB	OMIM:150250
HP:0002779	Tracheomalacia	374879	ZNF699	OMIM:619488
HP:0002779	Tracheomalacia	253959	RALGAPA1	OMIM:618797
HP:0002779	Tracheomalacia	27245	AHDC1	ORPHA:412069
HP:0002779	Tracheomalacia	4281	MID1	ORPHA:2745
HP:0002779	Tracheomalacia	8239	USP9X	OMIM:300919
HP:0002779	Tracheomalacia	79633	FAT4	OMIM:615546
HP:0002779	Tracheomalacia	79633	FAT4	ORPHA:314679
HP:0002779	Tracheomalacia	5000	ORC4	OMIM:613800
HP:0002779	Tracheomalacia	25782	RAB3GAP2	OMIM:212720
HP:0002779	Tracheomalacia	8642	DCHS1	ORPHA:314679
HP:0002779	Tracheomalacia	8642	DCHS1	OMIM:601390
HP:0002779	Tracheomalacia	3265	HRAS	OMIM:218040
HP:0002779	Tracheomalacia	29072	SETD2	OMIM:620155
HP:0002779	Tracheomalacia	23594	ORC6	OMIM:613803
HP:0002779	Tracheomalacia	5077	PAX3	ORPHA:896
HP:0002779	Tracheomalacia	168667	BMPER	OMIM:608022
HP:0002779	Tracheomalacia	1836	SLC26A2	ORPHA:56304
HP:0002779	Tracheomalacia	222663	SCUBE3	OMIM:619184
HP:0002779	Tracheomalacia	5879	RAC1	ORPHA:500159
HP:0002779	Tracheomalacia	5879	RAC1	OMIM:617751
HP:0002779	Tracheomalacia	51053	GMNN	OMIM:616835
HP:0002779	Tracheomalacia	3423	IDS	OMIM:309900
HP:0002779	Tracheomalacia	23065	EMC1	OMIM:616875
HP:0002779	Tracheomalacia	23065	EMC1	ORPHA:480898
HP:0002779	Tracheomalacia	3835	KIF22	ORPHA:93360
HP:0002779	Tracheomalacia	3098	HK1	OMIM:618547
HP:0002779	Tracheomalacia	8295	TRRAP	OMIM:618454
HP:0002779	Tracheomalacia	4796	TONSL	OMIM:271510
HP:0009937	Facial hirsutism	5184	PEPD	OMIM:170100
HP:0009937	Facial hirsutism	27125	AFF4	ORPHA:444077
HP:0009937	Facial hirsutism	54361	WNT4	ORPHA:247768
HP:0009937	Facial hirsutism	129285	PPP1R21	OMIM:619383
HP:0009937	Facial hirsutism	1371	CPOX	ORPHA:79273
HP:0009937	Facial hirsutism	6913	TBX15	OMIM:260660
HP:0009937	Facial hirsutism	2799	GNS	OMIM:252940
HP:0009937	Facial hirsutism	8626	TP63	OMIM:604292
HP:0009937	Facial hirsutism	55617	TASP1	OMIM:618950
HP:0009937	Facial hirsutism	54496	PRMT7	OMIM:617157
HP:0009937	Facial hirsutism	1387	CREBBP	OMIM:180849
HP:0009937	Facial hirsutism	2033	EP300	OMIM:180849
HP:0009937	Facial hirsutism	2316	FLNA	OMIM:309350
HP:0009937	Facial hirsutism	150468	CKAP2L	OMIM:272440
HP:0009937	Facial hirsutism	388015	RTL1	ORPHA:96334
HP:0009937	Facial hirsutism	8788	DLK1	ORPHA:96334
HP:0009937	Facial hirsutism	55384	MEG3	ORPHA:96334
HP:0009937	Facial hirsutism	8604	SLC25A12	OMIM:612949
HP:0009939	Mandibular aplasia	5396	PRRX1	OMIM:202650
HP:0009939	Mandibular aplasia	5396	PRRX1	ORPHA:990
HP:0009939	Mandibular aplasia	5015	OTX2	ORPHA:990
HP:0009939	Mandibular aplasia	81620	CDT1	ORPHA:2554
HP:0009939	Mandibular aplasia	5000	ORC4	ORPHA:2554
HP:0009939	Mandibular aplasia	23594	ORC6	ORPHA:2554
HP:0009939	Mandibular aplasia	8318	CDC45	ORPHA:2554
HP:0009939	Mandibular aplasia	990	CDC6	ORPHA:2554
HP:0009939	Mandibular aplasia	4998	ORC1	ORPHA:2554
HP:0009939	Mandibular aplasia	51053	GMNN	ORPHA:2554
HP:0009939	Mandibular aplasia	56975	FAM20C	ORPHA:1832
HP:0009939	Mandibular aplasia	54539	NDUFB11	ORPHA:2556
HP:0009939	Mandibular aplasia	1349	COX7B	ORPHA:2556
HP:0009939	Mandibular aplasia	3052	HCCS	ORPHA:2556
HP:0009938	Sunken cheeks	4035	LRP1	OMIM:604093
HP:0009938	Sunken cheeks	857	CAV1	OMIM:606721
HP:0009938	Sunken cheeks	10382	TUBB4A	ORPHA:98805
HP:0009938	Sunken cheeks	10382	TUBB4A	OMIM:128101
HP:0009938	Sunken cheeks	55768	NGLY1	OMIM:615273
HP:0009938	Sunken cheeks	165	AEBP1	ORPHA:536532
HP:0009938	Sunken cheeks	5702	PSMC3	OMIM:619354
HP:0009935	Aplasia/Hypoplasia of the nasal septum	5727	PTCH1	OMIM:610828
HP:0009935	Aplasia/Hypoplasia of the nasal septum	9241	NOG	OMIM:186500
HP:0009935	Aplasia/Hypoplasia of the nasal septum	2317	FLNB	OMIM:112310
HP:0009935	Aplasia/Hypoplasia of the nasal septum	7050	TGIF1	OMIM:142946
HP:0009935	Aplasia/Hypoplasia of the nasal septum	6496	SIX3	OMIM:157170
HP:0009941	Asymmetry of the mouth	10682	EBP	ORPHA:401973
HP:0009941	Asymmetry of the mouth	9241	NOG	OMIM:186500
HP:0009943	Complete duplication of thumb phalanx	64327	LMBR1	OMIM:174500
HP:0009943	Complete duplication of thumb phalanx	8200	GDF5	ORPHA:93384
HP:0009943	Complete duplication of thumb phalanx	658	BMPR1B	ORPHA:93384
HP:0009943	Complete duplication of thumb phalanx	51715	RAB23	OMIM:201000
HP:0009943	Complete duplication of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009943	Complete duplication of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009943	Complete duplication of thumb phalanx	2176	FANCC	OMIM:227645
HP:0009943	Complete duplication of thumb phalanx	2178	FANCE	OMIM:600901
HP:0009943	Complete duplication of thumb phalanx	157570	ESCO2	ORPHA:3103
HP:0009943	Complete duplication of thumb phalanx	6472	SHMT2	OMIM:619121
HP:0009943	Complete duplication of thumb phalanx	8260	NAA10	ORPHA:568
HP:0009943	Complete duplication of thumb phalanx	54880	BCOR	ORPHA:568
HP:0009943	Complete duplication of thumb phalanx	2175	FANCA	OMIM:227650
HP:0009944	Partial duplication of thumb phalanx	55012	PPP2R3C	OMIM:618419
HP:0009944	Partial duplication of thumb phalanx	374654	KIF7	OMIM:200990
HP:0009944	Partial duplication of thumb phalanx	5053	PAH	ORPHA:2209
HP:0009944	Partial duplication of thumb phalanx	124583	CANT1	OMIM:251450
HP:0009944	Partial duplication of thumb phalanx	2255	FGF10	OMIM:620193
HP:0009944	Partial duplication of thumb phalanx	6910	TBX5	OMIM:142900
HP:0009944	Partial duplication of thumb phalanx	6135	RPL11	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6138	RPL15	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6229	RPS24	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6125	RPL5	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6204	RPS10	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6224	RPS20	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6165	RPL35A	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	2623	GATA1	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6223	RPS19	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6223	RPS19	OMIM:105650
HP:0009944	Partial duplication of thumb phalanx	6232	RPS27	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6231	RPS26	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	11224	RPL35	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6160	RPL31	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6218	RPS17	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6201	RPS7	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6155	RPL27	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6154	RPL26	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6210	RPS15A	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	90121	TSR2	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6141	RPL18	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6235	RPS29	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6234	RPS28	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	51816	ADA2	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6299	SALL1	OMIM:107480
HP:0009944	Partial duplication of thumb phalanx	6299	SALL1	ORPHA:857
HP:0009944	Partial duplication of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009944	Partial duplication of thumb phalanx	1855	DVL1	OMIM:616331
HP:0009944	Partial duplication of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009944	Partial duplication of thumb phalanx	57122	NUP107	OMIM:616730
HP:0009944	Partial duplication of thumb phalanx	57122	NUP107	OMIM:618348
HP:0009944	Partial duplication of thumb phalanx	2735	GLI1	OMIM:174400
HP:0009944	Partial duplication of thumb phalanx	2263	FGFR2	OMIM:149730
HP:0009944	Partial duplication of thumb phalanx	51339	DACT1	ORPHA:857
HP:0009944	Partial duplication of thumb phalanx	10992	SF3B2	OMIM:164210
HP:0009944	Partial duplication of thumb phalanx	27152	INTU	OMIM:617926
HP:0002780	Bronchomalacia	745	MYRF	OMIM:618280
HP:0002780	Bronchomalacia	2077	ERF	OMIM:617180
HP:0002780	Bronchomalacia	2317	FLNB	OMIM:150250
HP:0002780	Bronchomalacia	5447	POR	OMIM:201750
HP:0002780	Bronchomalacia	374879	ZNF699	OMIM:619488
HP:0002780	Bronchomalacia	3572	IL6ST	OMIM:619752
HP:0002780	Bronchomalacia	4629	MYH11	OMIM:619351
HP:0002780	Bronchomalacia	8425	LTBP4	OMIM:613177
HP:0002780	Bronchomalacia	2260	FGFR1	OMIM:101600
HP:0002780	Bronchomalacia	2263	FGFR2	OMIM:101600
HP:0002780	Bronchomalacia	7994	KAT6A	OMIM:616268
HP:0002780	Bronchomalacia	5000	ORC4	OMIM:613800
HP:0002780	Bronchomalacia	3852	KRT5	ORPHA:79396
HP:0002780	Bronchomalacia	3861	KRT14	ORPHA:79396
HP:0002780	Bronchomalacia	3265	HRAS	OMIM:218040
HP:0002780	Bronchomalacia	23594	ORC6	OMIM:613803
HP:0002780	Bronchomalacia	1836	SLC26A2	ORPHA:56304
HP:0002780	Bronchomalacia	79813	EHMT1	OMIM:610253
HP:0002780	Bronchomalacia	222663	SCUBE3	OMIM:619184
HP:0002780	Bronchomalacia	5879	RAC1	ORPHA:500159
HP:0002780	Bronchomalacia	5879	RAC1	OMIM:617751
HP:0002780	Bronchomalacia	51053	GMNN	OMIM:616835
HP:0002780	Bronchomalacia	6662	SOX9	ORPHA:140
HP:0002780	Bronchomalacia	6662	SOX9	OMIM:114290
HP:0002780	Bronchomalacia	3423	IDS	OMIM:309900
HP:0002781	Upper airway obstruction	3763	KCNJ6	ORPHA:435628
HP:0002781	Upper airway obstruction	3763	KCNJ6	OMIM:614098
HP:0002781	Upper airway obstruction	3423	IDS	ORPHA:217085
HP:0002781	Upper airway obstruction	3423	IDS	ORPHA:217093
HP:0002781	Upper airway obstruction	2261	FGFR3	OMIM:100800
HP:0002781	Upper airway obstruction	57688	ZSWIM6	ORPHA:1827
HP:0002781	Upper airway obstruction	57688	ZSWIM6	OMIM:603671
HP:0002781	Upper airway obstruction	10020	GNE	ORPHA:3166
HP:0002781	Upper airway obstruction	65992	DDRGK1	ORPHA:93352
HP:0002781	Upper airway obstruction	7512	XPNPEP2	ORPHA:100057
HP:0002781	Upper airway obstruction	4000	LMNA	ORPHA:740
HP:0002781	Upper airway obstruction	10269	ZMPSTE24	ORPHA:740
HP:0002781	Upper airway obstruction	6452	SH3BP2	ORPHA:184
HP:0002781	Upper airway obstruction	27245	AHDC1	ORPHA:412069
HP:0002781	Upper airway obstruction	5447	POR	OMIM:207410
HP:0002781	Upper airway obstruction	2263	FGFR2	OMIM:207410
HP:0002781	Upper airway obstruction	6662	SOX9	ORPHA:718
HP:0002781	Upper airway obstruction	56244	BTNL2	ORPHA:797
HP:0002781	Upper airway obstruction	3123	HLA-DRB1	ORPHA:797
HP:0002781	Upper airway obstruction	1301	COL11A1	ORPHA:440354
HP:0002781	Upper airway obstruction	2161	F12	OMIM:610618
HP:0002783	Recurrent lower respiratory tract infections	7454	WAS	OMIM:301000
HP:0002783	Recurrent lower respiratory tract infections	695	BTK	OMIM:300755
HP:0002783	Recurrent lower respiratory tract infections	1291	COL6A1	OMIM:254090
HP:0002783	Recurrent lower respiratory tract infections	1292	COL6A2	OMIM:254090
HP:0002783	Recurrent lower respiratory tract infections	1293	COL6A3	OMIM:254090
HP:0002783	Recurrent lower respiratory tract infections	10664	CTCF	ORPHA:363611
HP:0002783	Recurrent lower respiratory tract infections	29775	CARD10	OMIM:619632
HP:0002783	Recurrent lower respiratory tract infections	6340	SCNN1G	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	1080	CFTR	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	6337	SCNN1A	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	6338	SCNN1B	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	213	ALB	OMIM:616000
HP:0002783	Recurrent lower respiratory tract infections	213	ALB	ORPHA:86816
HP:0002783	Recurrent lower respiratory tract infections	4261	CIITA	OMIM:209920
HP:0002783	Recurrent lower respiratory tract infections	5994	RFXAP	OMIM:209920
HP:0002783	Recurrent lower respiratory tract infections	5993	RFX5	OMIM:209920
HP:0002783	Recurrent lower respiratory tract infections	8625	RFXANK	OMIM:209920
HP:0002783	Recurrent lower respiratory tract infections	6774	STAT3	OMIM:615952
HP:0002783	Recurrent lower respiratory tract infections	1305	COL13A1	OMIM:616720
HP:0002783	Recurrent lower respiratory tract infections	5295	PIK3R1	OMIM:616005
HP:0002783	Recurrent lower respiratory tract infections	4860	PNP	OMIM:613179
HP:0002783	Recurrent lower respiratory tract infections	79912	PYROXD1	OMIM:617258
HP:0002783	Recurrent lower respiratory tract infections	5580	PRKCD	OMIM:615559
HP:0002783	Recurrent lower respiratory tract infections	2622	GAS8	OMIM:616726
HP:0002783	Recurrent lower respiratory tract infections	5880	RAC2	OMIM:618986
HP:0002783	Recurrent lower respiratory tract infections	3932	LCK	OMIM:615758
HP:0002783	Recurrent lower respiratory tract infections	8021	NUP214	OMIM:618426
HP:0002783	Recurrent lower respiratory tract infections	54440	SASH3	OMIM:301082
HP:0002783	Recurrent lower respiratory tract infections	959	CD40LG	OMIM:308230
HP:0002783	Recurrent lower respiratory tract infections	79759	ZNF668	OMIM:620194
HP:0002783	Recurrent lower respiratory tract infections	114803	MYSM1	ORPHA:508542
HP:0002783	Recurrent lower respiratory tract infections	3575	IL7R	ORPHA:169154
HP:0002783	Recurrent lower respiratory tract infections	3718	JAK3	OMIM:600802
HP:0002783	Recurrent lower respiratory tract infections	57169	ZNFX1	OMIM:619644
HP:0002783	Recurrent lower respiratory tract infections	6809	STX3	OMIM:619446
HP:0002783	Recurrent lower respiratory tract infections	8481	OFD1	OMIM:300209
HP:0002783	Recurrent lower respiratory tract infections	1289	COL5A1	OMIM:130000
HP:0002783	Recurrent lower respiratory tract infections	11151	CORO1A	OMIM:615401
HP:0002783	Recurrent lower respiratory tract infections	8547	FCN3	OMIM:613860
HP:0002783	Recurrent lower respiratory tract infections	10525	HYOU1	OMIM:233600
HP:0002783	Recurrent lower respiratory tract infections	4780	NFE2L2	OMIM:617744
HP:0002783	Recurrent lower respiratory tract infections	472	ATM	OMIM:208900
HP:0002783	Recurrent lower respiratory tract infections	5591	PRKDC	OMIM:615966
HP:0002783	Recurrent lower respiratory tract infections	973	CD79A	OMIM:613501
HP:0002783	Recurrent lower respiratory tract infections	91869	RFT1	OMIM:612015
HP:0002783	Recurrent lower respiratory tract infections	64135	IFIH1	OMIM:615846
HP:0002783	Recurrent lower respiratory tract infections	8292	COLQ	ORPHA:98915
HP:0002783	Recurrent lower respiratory tract infections	3913	LAMB2	ORPHA:98915
HP:0002783	Recurrent lower respiratory tract infections	6662	SOX9	OMIM:114290
HP:0002783	Recurrent lower respiratory tract infections	10551	AGR2	OMIM:620233
HP:0002783	Recurrent lower respiratory tract infections	3908	LAMA2	ORPHA:258
HP:0002783	Recurrent lower respiratory tract infections	57609	DIP2B	OMIM:136630
HP:0002783	Recurrent lower respiratory tract infections	4718	NDUFC2	OMIM:619170
HP:0002783	Recurrent lower respiratory tract infections	3978	LIG1	OMIM:619774
HP:0002783	Recurrent lower respiratory tract infections	79989	IFT56	OMIM:619534
HP:0002783	Recurrent lower respiratory tract infections	2530	FUT8	OMIM:618005
HP:0002783	Recurrent lower respiratory tract infections	1493	CTLA4	OMIM:616100
HP:0002783	Recurrent lower respiratory tract infections	92579	G6PC3	OMIM:612541
HP:0002783	Recurrent lower respiratory tract infections	50628	GEMIN4	OMIM:617913
HP:0002783	Recurrent lower respiratory tract infections	5426	POLE	OMIM:615139
HP:0002783	Recurrent lower respiratory tract infections	92344	GORAB	OMIM:231070
HP:0002783	Recurrent lower respiratory tract infections	3514	IGKC	ORPHA:183675
HP:0002783	Recurrent lower respiratory tract infections	3501	IGHG2	ORPHA:183675
HP:0002783	Recurrent lower respiratory tract infections	1604	CD55	OMIM:226300
HP:0002783	Recurrent lower respiratory tract infections	7174	TPP2	OMIM:619220
HP:0002783	Recurrent lower respiratory tract infections	115399	LRRC56	OMIM:618254
HP:0002783	Recurrent lower respiratory tract infections	10892	MALT1	OMIM:615468
HP:0002783	Recurrent lower respiratory tract infections	4591	TRIM37	OMIM:253250
HP:0002783	Recurrent lower respiratory tract infections	2302	FOXJ1	OMIM:618699
HP:0002783	Recurrent lower respiratory tract infections	10125	RASGRP1	OMIM:618534
HP:0002783	Recurrent lower respiratory tract infections	7407	VARS1	OMIM:617802
HP:0002783	Recurrent lower respiratory tract infections	6304	SATB1	OMIM:619229
HP:0002783	Recurrent lower respiratory tract infections	9138	ARHGEF1	OMIM:618459
HP:0002783	Recurrent lower respiratory tract infections	100	ADA	ORPHA:277
HP:0002783	Recurrent lower respiratory tract infections	100	ADA	OMIM:102700
HP:0002783	Recurrent lower respiratory tract infections	3476	IGBP1	OMIM:300472
HP:0002783	Recurrent lower respiratory tract infections	2137	EXTL3	ORPHA:508533
HP:0002783	Recurrent lower respiratory tract infections	4921	DDR2	OMIM:271665
HP:0002783	Recurrent lower respiratory tract infections	3763	KCNJ6	ORPHA:435628
HP:0002783	Recurrent lower respiratory tract infections	3763	KCNJ6	OMIM:614098
HP:0002783	Recurrent lower respiratory tract infections	83538	ODAD4	OMIM:617092
HP:0002783	Recurrent lower respiratory tract infections	4791	NFKB2	ORPHA:293978
HP:0002783	Recurrent lower respiratory tract infections	4791	NFKB2	OMIM:615577
HP:0002783	Recurrent lower respiratory tract infections	5351	PLOD1	OMIM:225400
HP:0002783	Recurrent lower respiratory tract infections	5351	PLOD1	ORPHA:1900
HP:0002783	Recurrent lower respiratory tract infections	6477	SIAH1	OMIM:619314
HP:0002783	Recurrent lower respiratory tract infections	4683	NBN	OMIM:251260
HP:0002783	Recurrent lower respiratory tract infections	4683	NBN	ORPHA:647
HP:0002783	Recurrent lower respiratory tract infections	4688	NCF2	OMIM:233710
HP:0002783	Recurrent lower respiratory tract infections	8425	LTBP4	OMIM:613177
HP:0002783	Recurrent lower respiratory tract infections	5238	PGM3	ORPHA:443811
HP:0002783	Recurrent lower respiratory tract infections	27148	STK36	OMIM:619436
HP:0002783	Recurrent lower respiratory tract infections	11133	KPTN	OMIM:615637
HP:0002783	Recurrent lower respiratory tract infections	11133	KPTN	ORPHA:397612
HP:0002783	Recurrent lower respiratory tract infections	57539	WDR35	OMIM:613610
HP:0002783	Recurrent lower respiratory tract infections	81857	MED25	OMIM:616449
HP:0002783	Recurrent lower respiratory tract infections	81857	MED25	ORPHA:464738
HP:0002783	Recurrent lower respiratory tract infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002783	Recurrent lower respiratory tract infections	100151683	RNU4ATAC	OMIM:616651
HP:0002783	Recurrent lower respiratory tract infections	987	LRBA	OMIM:614700
HP:0002783	Recurrent lower respiratory tract infections	755	CFAP410	OMIM:602271
HP:0002783	Recurrent lower respiratory tract infections	9094	UNC119	OMIM:615518
HP:0002783	Recurrent lower respiratory tract infections	126792	B3GALT6	OMIM:609465
HP:0002783	Recurrent lower respiratory tract infections	79650	USB1	OMIM:604173
HP:0002783	Recurrent lower respiratory tract infections	5293	PIK3CD	OMIM:619281
HP:0002783	Recurrent lower respiratory tract infections	6720	SREBF1	OMIM:158310
HP:0002783	Recurrent lower respiratory tract infections	1302	COL11A2	OMIM:215150
HP:0002783	Recurrent lower respiratory tract infections	54768	HYDIN	OMIM:608647
HP:0002783	Recurrent lower respiratory tract infections	4522	MTHFD1	OMIM:617780
HP:0002783	Recurrent lower respiratory tract infections	161582	DNAAF4	OMIM:615482
HP:0002783	Recurrent lower respiratory tract infections	3561	IL2RG	OMIM:300400
HP:0002783	Recurrent lower respiratory tract infections	9948	WDR1	OMIM:150550
HP:0002783	Recurrent lower respiratory tract infections	939	CD27	OMIM:615122
HP:0002783	Recurrent lower respiratory tract infections	23149	FCHO1	OMIM:619164
HP:0002783	Recurrent lower respiratory tract infections	10157	AASS	ORPHA:2203
HP:0002783	Recurrent lower respiratory tract infections	5184	PEPD	OMIM:170100
HP:0002783	Recurrent lower respiratory tract infections	65082	VPS33A	OMIM:617303
HP:0002783	Recurrent lower respiratory tract infections	4790	NFKB1	OMIM:616576
HP:0002783	Recurrent lower respiratory tract infections	3543	IGLL1	OMIM:613500
HP:0002783	Recurrent lower respiratory tract infections	29760	BLNK	OMIM:613502
HP:0002783	Recurrent lower respiratory tract infections	79158	GNPTAB	OMIM:252500
HP:0002783	Recurrent lower respiratory tract infections	8382	NME5	OMIM:620032
HP:0002783	Recurrent lower respiratory tract infections	6440	SFTPC	OMIM:610913
HP:0002783	Recurrent lower respiratory tract infections	3417	IDH1	ORPHA:99646
HP:0002783	Recurrent lower respiratory tract infections	6904	TBCD	ORPHA:496641
HP:0002783	Recurrent lower respiratory tract infections	6595	SMARCA2	OMIM:619293
HP:0002783	Recurrent lower respiratory tract infections	2212	FCGR2A	OMIM:219700
HP:0002783	Recurrent lower respiratory tract infections	7040	TGFB1	OMIM:219700
HP:0002783	Recurrent lower respiratory tract infections	915	CD3D	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	916	CD3E	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	919	CD247	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	919	CD247	OMIM:610163
HP:0002783	Recurrent lower respiratory tract infections	4001	LMNB1	OMIM:619179
HP:0002783	Recurrent lower respiratory tract infections	7084	TK2	ORPHA:254875
HP:0002783	Recurrent lower respiratory tract infections	23495	TNFRSF13B	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	115650	TNFRSF13C	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	115650	TNFRSF13C	OMIM:613494
HP:0002783	Recurrent lower respiratory tract infections	1380	CR2	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	29851	ICOS	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	29851	ICOS	OMIM:607594
HP:0002783	Recurrent lower respiratory tract infections	930	CD19	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	1956	EGFR	OMIM:616069
HP:0002783	Recurrent lower respiratory tract infections	3952	LEP	OMIM:614962
HP:0002783	Recurrent lower respiratory tract infections	8792	TNFRSF11A	OMIM:612301
HP:0002783	Recurrent lower respiratory tract infections	10095	ARPC1B	OMIM:617718
HP:0002783	Recurrent lower respiratory tract infections	7840	ALMS1	OMIM:203800
HP:0002783	Recurrent lower respiratory tract infections	7840	ALMS1	ORPHA:64
HP:0002783	Recurrent lower respiratory tract infections	7080	NKX2-1	ORPHA:209905
HP:0002783	Recurrent lower respiratory tract infections	8546	AP3B1	OMIM:608233
HP:0002783	Recurrent lower respiratory tract infections	79087	ALG12	OMIM:607143
HP:0002783	Recurrent lower respiratory tract infections	79087	ALG12	ORPHA:79324
HP:0002783	Recurrent lower respiratory tract infections	6899	TBX1	OMIM:188400
HP:0002783	Recurrent lower respiratory tract infections	7852	CXCR4	ORPHA:51636
HP:0002783	Recurrent lower respiratory tract infections	54681	P4HTM	OMIM:618493
HP:0002783	Recurrent lower respiratory tract infections	146206	CARMIL2	OMIM:618131
HP:0002783	Recurrent lower respiratory tract infections	79415	CYBC1	OMIM:618935
HP:0002783	Recurrent lower respiratory tract infections	653361	NCF1	OMIM:233700
HP:0002783	Recurrent lower respiratory tract infections	23594	ORC6	OMIM:613803
HP:0002783	Recurrent lower respiratory tract infections	26040	SETBP1	ORPHA:798
HP:0002783	Recurrent lower respiratory tract infections	55036	CCDC40	OMIM:613808
HP:0002783	Recurrent lower respiratory tract infections	339829	CCDC39	OMIM:613807
HP:0002783	Recurrent lower respiratory tract infections	2074	ERCC6	OMIM:214150
HP:0002783	Recurrent lower respiratory tract infections	2328	FMO3	OMIM:602079
HP:0002783	Recurrent lower respiratory tract infections	3572	IL6ST	OMIM:619752
HP:0002783	Recurrent lower respiratory tract infections	3572	IL6ST	OMIM:619750
HP:0002783	Recurrent lower respiratory tract infections	2588	GALNS	OMIM:253000
HP:0002783	Recurrent lower respiratory tract infections	718	C3	OMIM:613779
HP:0002783	Recurrent lower respiratory tract infections	4796	TONSL	ORPHA:93357
HP:0002783	Recurrent lower respiratory tract infections	3507	IGHM	OMIM:601495
HP:0002783	Recurrent lower respiratory tract infections	5971	RELB	OMIM:617585
HP:0002783	Recurrent lower respiratory tract infections	974	CD79B	OMIM:612692
HP:0002783	Recurrent lower respiratory tract infections	50615	IL21R	OMIM:615207
HP:0002783	Recurrent lower respiratory tract infections	8701	DNAH11	OMIM:611884
HP:0002783	Recurrent lower respiratory tract infections	51341	ZBTB7A	OMIM:619769
HP:0002783	Recurrent lower respiratory tract infections	199221	DZIP1L	ORPHA:731
HP:0002783	Recurrent lower respiratory tract infections	5314	PKHD1	ORPHA:731
HP:0002783	Recurrent lower respiratory tract infections	55343	SLC35C1	ORPHA:99843
HP:0002783	Recurrent lower respiratory tract infections	84905	ZNF341	OMIM:618282
HP:0002783	Recurrent lower respiratory tract infections	5422	POLA1	OMIM:301220
HP:0002783	Recurrent lower respiratory tract infections	92749	DRC1	OMIM:615294
HP:0002783	Recurrent lower respiratory tract infections	5317	PKP1	ORPHA:158668
HP:0002783	Recurrent lower respiratory tract infections	54941	RNF125	OMIM:616260
HP:0002783	Recurrent lower respiratory tract infections	3423	IDS	OMIM:309900
HP:0002783	Recurrent lower respiratory tract infections	5879	RAC1	OMIM:617751
HP:0002783	Recurrent lower respiratory tract infections	5879	RAC1	ORPHA:500159
HP:0002783	Recurrent lower respiratory tract infections	6603	SMARCD2	OMIM:617475
HP:0002783	Recurrent lower respiratory tract infections	55130	ODAD2	OMIM:615451
HP:0002783	Recurrent lower respiratory tract infections	10747	MASP2	OMIM:613791
HP:0002783	Recurrent lower respiratory tract infections	27040	LAT	OMIM:617514
HP:0002783	Recurrent lower respiratory tract infections	4052	LTBP1	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	30008	EFEMP2	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	10516	FBLN5	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	1535	CYBA	OMIM:233690
HP:0002783	Recurrent lower respiratory tract infections	1536	CYBB	OMIM:306400
HP:0002783	Recurrent lower respiratory tract infections	81704	DOCK8	OMIM:243700
HP:0002783	Recurrent lower respiratory tract infections	81570	CLPB	OMIM:616271
HP:0002783	Recurrent lower respiratory tract infections	93233	ODAD1	OMIM:615067
HP:0002783	Recurrent lower respiratory tract infections	57728	WDR19	OMIM:614378
HP:0002783	Recurrent lower respiratory tract infections	721	C4B	OMIM:614379
HP:0002783	Recurrent lower respiratory tract infections	1794	DOCK2	OMIM:616433
HP:0002783	Recurrent lower respiratory tract infections	284119	CAVIN1	OMIM:613327
HP:0002783	Recurrent lower respiratory tract infections	6929	TCF3	OMIM:619824
HP:0002783	Recurrent lower respiratory tract infections	871	SERPINH1	OMIM:613848
HP:0002783	Recurrent lower respiratory tract infections	55294	FBXW7	OMIM:620012
HP:0002783	Recurrent lower respiratory tract infections	165918	RNF168	ORPHA:420741
HP:0002783	Recurrent lower respiratory tract infections	5813	PURA	ORPHA:314655
HP:0002783	Recurrent lower respiratory tract infections	2737	GLI3	ORPHA:672
HP:0002783	Recurrent lower respiratory tract infections	5896	RAG1	ORPHA:331206
HP:0002783	Recurrent lower respiratory tract infections	5897	RAG2	ORPHA:331206
HP:0002783	Recurrent lower respiratory tract infections	4247	MGAT2	ORPHA:79329
HP:0002783	Recurrent lower respiratory tract infections	8239	USP9X	ORPHA:480880
HP:0002783	Recurrent lower respiratory tract infections	57379	AICDA	OMIM:605258
HP:0002783	Recurrent lower respiratory tract infections	64421	DCLRE1C	ORPHA:275
HP:0002783	Recurrent lower respiratory tract infections	7374	UNG	OMIM:608106
HP:0002783	Recurrent lower respiratory tract infections	29969	MDFIC	OMIM:620014
HP:0002783	Recurrent lower respiratory tract infections	7535	ZAP70	ORPHA:911
HP:0002788	Recurrent upper respiratory tract infections	100	ADA	ORPHA:277
HP:0002788	Recurrent upper respiratory tract infections	83483	PLVAP	OMIM:618183
HP:0002788	Recurrent upper respiratory tract infections	6448	SGSH	OMIM:252900
HP:0002788	Recurrent upper respiratory tract infections	23394	ADNP	ORPHA:404448
HP:0002788	Recurrent upper respiratory tract infections	4860	PNP	OMIM:613179
HP:0002788	Recurrent upper respiratory tract infections	3932	LCK	OMIM:615758
HP:0002788	Recurrent upper respiratory tract infections	9094	UNC119	OMIM:615518
HP:0002788	Recurrent upper respiratory tract infections	411	ARSB	OMIM:253200
HP:0002788	Recurrent upper respiratory tract infections	114803	MYSM1	ORPHA:508542
HP:0002788	Recurrent upper respiratory tract infections	3718	JAK3	OMIM:600802
HP:0002788	Recurrent upper respiratory tract infections	6809	STX3	OMIM:619446
HP:0002788	Recurrent upper respiratory tract infections	11151	CORO1A	OMIM:615401
HP:0002788	Recurrent upper respiratory tract infections	6813	STXBP2	OMIM:613101
HP:0002788	Recurrent upper respiratory tract infections	57465	TBC1D24	ORPHA:352596
HP:0002788	Recurrent upper respiratory tract infections	10525	HYOU1	OMIM:233600
HP:0002788	Recurrent upper respiratory tract infections	3952	LEP	ORPHA:66628
HP:0002788	Recurrent upper respiratory tract infections	3952	LEP	OMIM:614962
HP:0002788	Recurrent upper respiratory tract infections	6662	SOX9	OMIM:114290
HP:0002788	Recurrent upper respiratory tract infections	427	ASAH1	ORPHA:333
HP:0002788	Recurrent upper respiratory tract infections	25839	COG4	ORPHA:263501
HP:0002788	Recurrent upper respiratory tract infections	4784	NFIX	OMIM:602535
HP:0002788	Recurrent upper respiratory tract infections	1493	CTLA4	OMIM:616100
HP:0002788	Recurrent upper respiratory tract infections	7852	CXCR4	OMIM:193670
HP:0002788	Recurrent upper respiratory tract infections	7852	CXCR4	ORPHA:51636
HP:0002788	Recurrent upper respiratory tract infections	6597	SMARCA4	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6598	SMARCB1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6659	SOX4	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	8289	ARID1A	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	5977	DPF2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6601	SMARCC2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6602	SMARCD1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	57492	ARID1B	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	196528	ARID2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6605	SMARCE1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6664	SOX11	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	3423	IDS	ORPHA:217085
HP:0002788	Recurrent upper respiratory tract infections	3423	IDS	ORPHA:217093
HP:0002788	Recurrent upper respiratory tract infections	92579	G6PC3	OMIM:612541
HP:0002788	Recurrent upper respiratory tract infections	5631	PRPS1	ORPHA:1187
HP:0002788	Recurrent upper respiratory tract infections	5631	PRPS1	OMIM:301835
HP:0002788	Recurrent upper respiratory tract infections	5426	POLE	OMIM:615139
HP:0002788	Recurrent upper respiratory tract infections	3953	LEPR	OMIM:614963
HP:0002788	Recurrent upper respiratory tract infections	3953	LEPR	ORPHA:179494
HP:0002788	Recurrent upper respiratory tract infections	8456	FOXN1	OMIM:618806
HP:0002788	Recurrent upper respiratory tract infections	146206	CARMIL2	OMIM:618131
HP:0002788	Recurrent upper respiratory tract infections	2720	GLB1	OMIM:253010
HP:0002788	Recurrent upper respiratory tract infections	7840	ALMS1	ORPHA:64
HP:0002788	Recurrent upper respiratory tract infections	6772	STAT1	ORPHA:391487
HP:0002788	Recurrent upper respiratory tract infections	10043	TOM1	ORPHA:391487
HP:0002788	Recurrent upper respiratory tract infections	7454	WAS	OMIM:301000
HP:0002788	Recurrent upper respiratory tract infections	3572	IL6ST	OMIM:619752
HP:0002788	Recurrent upper respiratory tract infections	3852	KRT5	OMIM:619599
HP:0002788	Recurrent upper respiratory tract infections	1387	CREBBP	OMIM:180849
HP:0002788	Recurrent upper respiratory tract infections	1387	CREBBP	OMIM:618332
HP:0002788	Recurrent upper respiratory tract infections	2033	EP300	OMIM:180849
HP:0002788	Recurrent upper respiratory tract infections	2033	EP300	OMIM:618333
HP:0002788	Recurrent upper respiratory tract infections	4261	CIITA	OMIM:209920
HP:0002788	Recurrent upper respiratory tract infections	5994	RFXAP	OMIM:209920
HP:0002788	Recurrent upper respiratory tract infections	5993	RFX5	OMIM:209920
HP:0002788	Recurrent upper respiratory tract infections	8625	RFXANK	OMIM:209920
HP:0002788	Recurrent upper respiratory tract infections	2588	GALNS	OMIM:253000
HP:0002788	Recurrent upper respiratory tract infections	6774	STAT3	OMIM:615952
HP:0002788	Recurrent upper respiratory tract infections	5295	PIK3R1	OMIM:616005
HP:0002788	Recurrent upper respiratory tract infections	9841	ZBTB24	OMIM:614069
HP:0002788	Recurrent upper respiratory tract infections	920	CD4	OMIM:619238
HP:0002788	Recurrent upper respiratory tract infections	3570	IL6R	OMIM:618944
HP:0002788	Recurrent upper respiratory tract infections	54440	SASH3	OMIM:301082
HP:0002788	Recurrent upper respiratory tract infections	3575	IL7R	ORPHA:169154
HP:0002788	Recurrent upper respiratory tract infections	51360	MBTPS2	OMIM:308205
HP:0002788	Recurrent upper respiratory tract infections	27086	FOXP1	ORPHA:391372
HP:0002788	Recurrent upper respiratory tract infections	8481	OFD1	OMIM:300209
HP:0002788	Recurrent upper respiratory tract infections	5971	RELB	OMIM:617585
HP:0002788	Recurrent upper respiratory tract infections	79803	HPS6	OMIM:614075
HP:0002788	Recurrent upper respiratory tract infections	641	BLM	OMIM:210900
HP:0002788	Recurrent upper respiratory tract infections	5340	PLG	OMIM:217090
HP:0002788	Recurrent upper respiratory tract infections	51341	ZBTB7A	OMIM:619769
HP:0002788	Recurrent upper respiratory tract infections	2799	GNS	OMIM:252940
HP:0002788	Recurrent upper respiratory tract infections	8242	KDM5C	OMIM:300534
HP:0002788	Recurrent upper respiratory tract infections	23247	KATNIP	OMIM:616784
HP:0002788	Recurrent upper respiratory tract infections	2990	GUSB	OMIM:253220
HP:0002788	Recurrent upper respiratory tract infections	138050	HGSNAT	OMIM:252930
HP:0002788	Recurrent upper respiratory tract infections	3514	IGKC	ORPHA:183675
HP:0002788	Recurrent upper respiratory tract infections	3501	IGHG2	ORPHA:183675
HP:0002788	Recurrent upper respiratory tract infections	2542	SLC37A4	OMIM:232240
HP:0002788	Recurrent upper respiratory tract infections	55023	PHIP	ORPHA:589905
HP:0002788	Recurrent upper respiratory tract infections	2302	FOXJ1	OMIM:618699
HP:0002788	Recurrent upper respiratory tract infections	7388	UQCRH	OMIM:620137
HP:0002788	Recurrent upper respiratory tract infections	9138	ARHGEF1	OMIM:618459
HP:0002788	Recurrent upper respiratory tract infections	5696	PSMB8	OMIM:256040
HP:0002788	Recurrent upper respiratory tract infections	4669	NAGLU	OMIM:252920
HP:0002788	Recurrent upper respiratory tract infections	54808	DYM	ORPHA:239
HP:0002788	Recurrent upper respiratory tract infections	27019	DNAI1	OMIM:244400
HP:0002788	Recurrent upper respiratory tract infections	374407	DNAJB13	OMIM:617091
HP:0002788	Recurrent upper respiratory tract infections	6595	SMARCA2	OMIM:619293
HP:0002788	Recurrent upper respiratory tract infections	23495	TNFRSF13B	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	23495	TNFRSF13B	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	115650	TNFRSF13C	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	115650	TNFRSF13C	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	1380	CR2	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	1380	CR2	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	29851	ICOS	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	29851	ICOS	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	29851	ICOS	OMIM:607594
HP:0002788	Recurrent upper respiratory tract infections	930	CD19	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	930	CD19	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	84061	MAGT1	OMIM:300853
HP:0002788	Recurrent upper respiratory tract infections	4256	MGP	OMIM:245150
HP:0002788	Recurrent upper respiratory tract infections	6103	RPGR	OMIM:300455
HP:0002788	Recurrent upper respiratory tract infections	123872	DNAAF1	OMIM:613193
HP:0002788	Recurrent upper respiratory tract infections	4683	NBN	OMIM:251260
HP:0002788	Recurrent upper respiratory tract infections	2622	GAS8	OMIM:616726
HP:0002788	Recurrent upper respiratory tract infections	23765	IL17RA	OMIM:613953
HP:0002788	Recurrent upper respiratory tract infections	3588	IL10RB	OMIM:612567
HP:0002788	Recurrent upper respiratory tract infections	6890	TAP1	OMIM:604571
HP:0002788	Recurrent upper respiratory tract infections	6891	TAP2	OMIM:604571
HP:0002788	Recurrent upper respiratory tract infections	6892	TAPBP	OMIM:604571
HP:0002788	Recurrent upper respiratory tract infections	3561	IL2RG	OMIM:312863
HP:0002788	Recurrent upper respiratory tract infections	974	CD79B	OMIM:612692
HP:0002788	Recurrent upper respiratory tract infections	472	ATM	OMIM:208900
HP:0002788	Recurrent upper respiratory tract infections	973	CD79A	OMIM:613501
HP:0002788	Recurrent upper respiratory tract infections	4790	NFKB1	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	8742	TNFSF12	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	5580	PRKCD	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	931	MS4A1	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	975	CD81	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	359948	IRF2BP2	ORPHA:1572
HP:0002788	Recurrent upper respiratory tract infections	6901	TAFAZZIN	OMIM:302060
HP:0002788	Recurrent upper respiratory tract infections	79158	GNPTAB	OMIM:252500
HP:0002788	Recurrent upper respiratory tract infections	139212	DNAAF6	OMIM:300991
HP:0002788	Recurrent upper respiratory tract infections	30011	SH3KBP1	OMIM:300310
HP:0002788	Recurrent upper respiratory tract infections	695	BTK	OMIM:300755
HP:0002788	Recurrent upper respiratory tract infections	152110	NEK10	OMIM:618781
HP:0002788	Recurrent upper respiratory tract infections	27148	STK36	OMIM:619436
HP:0002788	Recurrent upper respiratory tract infections	5880	RAC2	OMIM:618986
HP:0002788	Recurrent upper respiratory tract infections	64446	DNAI2	OMIM:612444
HP:0002788	Recurrent upper respiratory tract infections	987	LRBA	OMIM:614700
HP:0002788	Recurrent upper respiratory tract infections	3426	CFI	OMIM:610984
HP:0002788	Recurrent upper respiratory tract infections	345895	RSPH4A	OMIM:612649
HP:0002788	Recurrent upper respiratory tract infections	54499	TMCO1	OMIM:213980
HP:0002788	Recurrent upper respiratory tract infections	79650	USB1	OMIM:604173
HP:0002788	Recurrent upper respiratory tract infections	5293	PIK3CD	OMIM:619281
HP:0002788	Recurrent upper respiratory tract infections	3507	IGHM	OMIM:601495
HP:0002788	Recurrent upper respiratory tract infections	54768	HYDIN	OMIM:608647
HP:0002788	Recurrent upper respiratory tract infections	89765	RSPH1	OMIM:615481
HP:0002788	Recurrent upper respiratory tract infections	161582	DNAAF4	OMIM:615482
HP:0002788	Recurrent upper respiratory tract infections	1289	COL5A1	OMIM:130000
HP:0002788	Recurrent upper respiratory tract infections	51816	ADA2	OMIM:615688
HP:0002788	Recurrent upper respiratory tract infections	54919	DNAAF5	OMIM:614874
HP:0002788	Recurrent upper respiratory tract infections	51364	ZMYND10	OMIM:615444
HP:0002788	Recurrent upper respiratory tract infections	50615	IL21R	OMIM:615207
HP:0002788	Recurrent upper respiratory tract infections	1767	DNAH5	OMIM:608644
HP:0002788	Recurrent upper respiratory tract infections	85452	CFAP74	OMIM:620197
HP:0002788	Recurrent upper respiratory tract infections	8382	NME5	OMIM:620032
HP:0002788	Recurrent upper respiratory tract infections	84905	ZNF341	OMIM:618282
HP:0002788	Recurrent upper respiratory tract infections	54	ACP5	OMIM:607944
HP:0002788	Recurrent upper respiratory tract infections	1290	COL5A2	OMIM:130010
HP:0002788	Recurrent upper respiratory tract infections	55130	ODAD2	OMIM:615451
HP:0002788	Recurrent upper respiratory tract infections	10625	IVNS1ABP	OMIM:618969
HP:0002788	Recurrent upper respiratory tract infections	4194	MDM4	OMIM:618849
HP:0002788	Recurrent upper respiratory tract infections	3551	IKBKB	OMIM:618204
HP:0002788	Recurrent upper respiratory tract infections	246176	GAS2L2	OMIM:618449
HP:0002788	Recurrent upper respiratory tract infections	6899	TBX1	OMIM:188400
HP:0002788	Recurrent upper respiratory tract infections	81704	DOCK8	OMIM:243700
HP:0002788	Recurrent upper respiratory tract infections	81704	DOCK8	ORPHA:217390
HP:0002788	Recurrent upper respiratory tract infections	345643	MCIDAS	OMIM:618695
HP:0002788	Recurrent upper respiratory tract infections	93233	ODAD1	OMIM:615067
HP:0002788	Recurrent upper respiratory tract infections	56683	CFAP298	OMIM:615500
HP:0002788	Recurrent upper respiratory tract infections	721	C4B	OMIM:614379
HP:0002788	Recurrent upper respiratory tract infections	4689	NCF4	OMIM:613960
HP:0002788	Recurrent upper respiratory tract infections	6688	SPI1	OMIM:619707
HP:0002788	Recurrent upper respiratory tract infections	85478	CCDC65	OMIM:615504
HP:0002788	Recurrent upper respiratory tract infections	6674	SPAG1	OMIM:615505
HP:0002788	Recurrent upper respiratory tract infections	51314	NME8	OMIM:610852
HP:0002788	Recurrent upper respiratory tract infections	165918	RNF168	ORPHA:420741
HP:0002788	Recurrent upper respiratory tract infections	23639	DNAAF11	OMIM:614935
HP:0002788	Recurrent upper respiratory tract infections	55172	DNAAF2	OMIM:612518
HP:0002788	Recurrent upper respiratory tract infections	64135	IFIH1	OMIM:619773
HP:0002788	Recurrent upper respiratory tract infections	2214	FCGR3A	OMIM:615707
HP:0002788	Recurrent upper respiratory tract infections	23149	FCHO1	OMIM:619164
HP:0002788	Recurrent upper respiratory tract infections	1956	EGFR	OMIM:616069
HP:0002788	Recurrent upper respiratory tract infections	26191	PTPN22	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	3106	HLA-B	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	3123	HLA-DRB1	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	8974	P4HA2	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	4791	NFKB2	ORPHA:293978
HP:0002788	Recurrent upper respiratory tract infections	55315	SLC29A3	ORPHA:168569
HP:0002788	Recurrent upper respiratory tract infections	7132	TNFRSF1A	ORPHA:32960
HP:0002788	Recurrent upper respiratory tract infections	331	XIAP	OMIM:308240
HP:0002788	Recurrent upper respiratory tract infections	4068	SH2D1A	OMIM:308240
HP:0002788	Recurrent upper respiratory tract infections	79087	ALG12	ORPHA:79324
HP:0002788	Recurrent upper respiratory tract infections	2737	GLI3	ORPHA:672
HP:0002788	Recurrent upper respiratory tract infections	5896	RAG1	ORPHA:331206
HP:0002788	Recurrent upper respiratory tract infections	5897	RAG2	ORPHA:331206
HP:0002788	Recurrent upper respiratory tract infections	4247	MGAT2	ORPHA:79329
HP:0002788	Recurrent upper respiratory tract infections	8239	USP9X	ORPHA:480880
HP:0002788	Recurrent upper respiratory tract infections	57379	AICDA	OMIM:605258
HP:0002788	Recurrent upper respiratory tract infections	64421	DCLRE1C	ORPHA:275
HP:0002788	Recurrent upper respiratory tract infections	7374	UNG	OMIM:608106
HP:0002788	Recurrent upper respiratory tract infections	6340	SCNN1G	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	6337	SCNN1A	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	6338	SCNN1B	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	29969	MDFIC	OMIM:620014
HP:0002788	Recurrent upper respiratory tract infections	7535	ZAP70	ORPHA:911
HP:0002837	Recurrent bronchitis	27019	DNAI1	OMIM:244400
HP:0002837	Recurrent bronchitis	374407	DNAJB13	OMIM:617091
HP:0002837	Recurrent bronchitis	6595	SMARCA2	OMIM:619293
HP:0002837	Recurrent bronchitis	4791	NFKB2	ORPHA:293978
HP:0002837	Recurrent bronchitis	4791	NFKB2	ORPHA:1572
HP:0002837	Recurrent bronchitis	23495	TNFRSF13B	OMIM:240500
HP:0002837	Recurrent bronchitis	23495	TNFRSF13B	ORPHA:1572
HP:0002837	Recurrent bronchitis	115650	TNFRSF13C	OMIM:240500
HP:0002837	Recurrent bronchitis	115650	TNFRSF13C	ORPHA:1572
HP:0002837	Recurrent bronchitis	1380	CR2	OMIM:240500
HP:0002837	Recurrent bronchitis	1380	CR2	ORPHA:1572
HP:0002837	Recurrent bronchitis	29851	ICOS	OMIM:240500
HP:0002837	Recurrent bronchitis	29851	ICOS	ORPHA:1572
HP:0002837	Recurrent bronchitis	29851	ICOS	OMIM:607594
HP:0002837	Recurrent bronchitis	930	CD19	OMIM:240500
HP:0002837	Recurrent bronchitis	930	CD19	ORPHA:1572
HP:0002837	Recurrent bronchitis	84061	MAGT1	OMIM:300853
HP:0002837	Recurrent bronchitis	4256	MGP	OMIM:245150
HP:0002837	Recurrent bronchitis	6103	RPGR	OMIM:300455
HP:0002837	Recurrent bronchitis	123872	DNAAF1	OMIM:613193
HP:0002837	Recurrent bronchitis	4683	NBN	OMIM:251260
HP:0002837	Recurrent bronchitis	2622	GAS8	OMIM:616726
HP:0002837	Recurrent bronchitis	23765	IL17RA	OMIM:613953
HP:0002837	Recurrent bronchitis	3588	IL10RB	OMIM:612567
HP:0002837	Recurrent bronchitis	6890	TAP1	OMIM:604571
HP:0002837	Recurrent bronchitis	6891	TAP2	OMIM:604571
HP:0002837	Recurrent bronchitis	6892	TAPBP	OMIM:604571
HP:0002837	Recurrent bronchitis	3561	IL2RG	OMIM:312863
HP:0002837	Recurrent bronchitis	974	CD79B	OMIM:612692
HP:0002837	Recurrent bronchitis	472	ATM	OMIM:208900
HP:0002837	Recurrent bronchitis	973	CD79A	OMIM:613501
HP:0002837	Recurrent bronchitis	4790	NFKB1	ORPHA:1572
HP:0002837	Recurrent bronchitis	8742	TNFSF12	ORPHA:1572
HP:0002837	Recurrent bronchitis	5580	PRKCD	ORPHA:1572
HP:0002837	Recurrent bronchitis	931	MS4A1	ORPHA:1572
HP:0002837	Recurrent bronchitis	975	CD81	ORPHA:1572
HP:0002837	Recurrent bronchitis	359948	IRF2BP2	ORPHA:1572
HP:0002837	Recurrent bronchitis	6901	TAFAZZIN	OMIM:302060
HP:0002837	Recurrent bronchitis	79158	GNPTAB	OMIM:252500
HP:0002837	Recurrent bronchitis	23149	FCHO1	OMIM:619164
HP:0002837	Recurrent bronchitis	1956	EGFR	OMIM:616069
HP:0002786	Tracheobronchomalacia	1836	SLC26A2	ORPHA:56304
HP:0002786	Tracheobronchomalacia	79813	EHMT1	OMIM:610253
HP:0002786	Tracheobronchomalacia	222663	SCUBE3	OMIM:619184
HP:0002786	Tracheobronchomalacia	5879	RAC1	ORPHA:500159
HP:0002786	Tracheobronchomalacia	5879	RAC1	OMIM:617751
HP:0002786	Tracheobronchomalacia	51053	GMNN	OMIM:616835
HP:0002786	Tracheobronchomalacia	6662	SOX9	ORPHA:140
HP:0002786	Tracheobronchomalacia	6662	SOX9	OMIM:114290
HP:0002786	Tracheobronchomalacia	3423	IDS	OMIM:309900
HP:0002787	Tracheal calcification	3930	LBR	OMIM:215140
HP:0002787	Tracheal calcification	10682	EBP	OMIM:302960
HP:0002787	Tracheal calcification	4921	DDR2	OMIM:271665
HP:0002787	Tracheal calcification	4256	MGP	OMIM:245150
HP:0002787	Tracheal calcification	415	ARSL	ORPHA:79345
HP:0002789	Tachypnea	10128	LRPPRC	OMIM:220111
HP:0002789	Tachypnea	3155	HMGCL	ORPHA:20
HP:0002789	Tachypnea	137814	NKX2-6	ORPHA:3384
HP:0002789	Tachypnea	23129	PLXND1	ORPHA:3384
HP:0002789	Tachypnea	763	CA5A	OMIM:615751
HP:0002789	Tachypnea	4519	MT-CYB	ORPHA:137675
HP:0002789	Tachypnea	5019	OXCT1	OMIM:245050
HP:0002789	Tachypnea	90624	LYRM7	OMIM:615838
HP:0002789	Tachypnea	10056	FARSB	OMIM:613658
HP:0002789	Tachypnea	6261	RYR1	ORPHA:466650
HP:0002789	Tachypnea	6261	RYR1	ORPHA:423
HP:0002789	Tachypnea	415	ARSL	ORPHA:79345
HP:0002789	Tachypnea	779	CACNA1S	ORPHA:423
HP:0002789	Tachypnea	374354	NHLRC2	OMIM:618278
HP:0002789	Tachypnea	1314	COPA	OMIM:616414
HP:0002789	Tachypnea	3141	HLCS	OMIM:253270
HP:0002789	Tachypnea	3141	HLCS	ORPHA:79242
HP:0002789	Tachypnea	3508	IGHMBP2	OMIM:604320
HP:0002789	Tachypnea	6440	SFTPC	OMIM:610913
HP:0002789	Tachypnea	6440	SFTPC	ORPHA:70587
HP:0002789	Tachypnea	10166	SLC25A15	ORPHA:415
HP:0002789	Tachypnea	6439	SFTPB	OMIM:265120
HP:0002789	Tachypnea	6439	SFTPB	ORPHA:217563
HP:0002789	Tachypnea	6439	SFTPB	ORPHA:70587
HP:0002789	Tachypnea	38	ACAT1	ORPHA:134
HP:0002789	Tachypnea	1438	CSF2RA	OMIM:300770
HP:0002789	Tachypnea	1438	CSF2RA	ORPHA:264675
HP:0002789	Tachypnea	1439	CSF2RB	ORPHA:264675
HP:0002789	Tachypnea	388753	COA6	OMIM:616501
HP:0002789	Tachypnea	686	BTD	OMIM:253260
HP:0002789	Tachypnea	340061	STING1	OMIM:615934
HP:0002789	Tachypnea	439	GET3	OMIM:620203
HP:0002789	Tachypnea	59	ACTA2	OMIM:613834
HP:0002789	Tachypnea	21	ABCA3	OMIM:610921
HP:0002789	Tachypnea	21	ABCA3	ORPHA:70587
HP:0002789	Tachypnea	4750	NEK1	ORPHA:2751
HP:0002789	Tachypnea	79583	TMEM231	ORPHA:2318
HP:0002789	Tachypnea	51524	TMEM138	ORPHA:2318
HP:0002789	Tachypnea	23090	ZNF423	ORPHA:2318
HP:0002789	Tachypnea	506	ATP5F1B	OMIM:620085
HP:0002789	Tachypnea	5095	PCCA	OMIM:606054
HP:0002789	Tachypnea	5096	PCCB	OMIM:606054
HP:0002789	Tachypnea	10568	SLC34A2	ORPHA:60025
HP:0002789	Tachypnea	51025	PAM16	OMIM:613320
HP:0002789	Tachypnea	388962	BOLA3	OMIM:614299
HP:0002789	Tachypnea	5826	ABCD4	OMIM:614857
HP:0002789	Tachypnea	846	CASR	OMIM:239200
HP:0002789	Tachypnea	7080	NKX2-1	OMIM:610978
HP:0002789	Tachypnea	6005	RHAG	ORPHA:71275
HP:0002789	Tachypnea	6006	RHCE	ORPHA:71275
HP:0002789	Tachypnea	6007	RHD	ORPHA:71275
HP:0002789	Tachypnea	7092	TLL1	ORPHA:99106
HP:0002789	Tachypnea	79600	TCTN1	ORPHA:475
HP:0002789	Tachypnea	79848	CSPP1	ORPHA:475
HP:0002789	Tachypnea	51684	SUFU	ORPHA:475
HP:0002789	Tachypnea	54806	AHI1	ORPHA:475
HP:0002789	Tachypnea	54806	AHI1	OMIM:608629
HP:0002789	Tachypnea	153241	CEP120	ORPHA:475
HP:0002789	Tachypnea	65250	CPLANE1	ORPHA:475
HP:0002789	Tachypnea	65250	CPLANE1	ORPHA:2754
HP:0002789	Tachypnea	91147	TMEM67	ORPHA:475
HP:0002789	Tachypnea	200894	ARL13B	ORPHA:475
HP:0002789	Tachypnea	9731	CEP104	ORPHA:475
HP:0002789	Tachypnea	219844	HYLS1	ORPHA:475
HP:0002789	Tachypnea	23247	KATNIP	ORPHA:475
HP:0002789	Tachypnea	219854	TMEM218	ORPHA:475
HP:0002789	Tachypnea	54903	MKS1	ORPHA:475
HP:0002789	Tachypnea	95681	CEP41	ORPHA:475
HP:0002789	Tachypnea	9786	KIAA0586	ORPHA:475
HP:0002789	Tachypnea	56623	INPP5E	ORPHA:475
HP:0002789	Tachypnea	56623	INPP5E	OMIM:213300
HP:0002789	Tachypnea	79867	TCTN2	ORPHA:475
HP:0002789	Tachypnea	80776	B9D2	ORPHA:475
HP:0002789	Tachypnea	10464	PIBF1	ORPHA:475
HP:0002789	Tachypnea	80210	ARMC9	ORPHA:475
HP:0002789	Tachypnea	23116	TOGARAM1	ORPHA:475
HP:0002789	Tachypnea	25776	CBY1	ORPHA:475
HP:0002789	Tachypnea	27077	B9D1	ORPHA:475
HP:0002789	Tachypnea	403	ARL3	ORPHA:475
HP:0002789	Tachypnea	65062	TMEM237	ORPHA:475
HP:0002789	Tachypnea	37	ACADVL	ORPHA:26793
HP:0002789	Tachypnea	6792	CDKL5	ORPHA:3095
HP:0002789	Tachypnea	22854	NTNG1	ORPHA:3095
HP:0002789	Tachypnea	9568	GABBR2	ORPHA:3095
HP:0002789	Tachypnea	4204	MECP2	ORPHA:3095
HP:0002789	Tachypnea	8243	SMC1A	ORPHA:3095
HP:0002789	Tachypnea	7385	UQCRC2	OMIM:615160
HP:0002789	Tachypnea	57545	CC2D2A	OMIM:612285
HP:0002789	Tachypnea	23322	RPGRIP1L	OMIM:611560
HP:0002789	Tachypnea	80184	CEP290	OMIM:610188
HP:0002789	Tachypnea	51259	TMEM216	OMIM:608091
HP:0002789	Tachypnea	51259	TMEM216	ORPHA:2754
HP:0002789	Tachypnea	2203	FBP1	ORPHA:348
HP:0002789	Tachypnea	10210	TOPORS	ORPHA:2754
HP:0002789	Tachypnea	9851	KIAA0753	ORPHA:2754
HP:0002789	Tachypnea	26123	TCTN3	ORPHA:2754
HP:0002789	Tachypnea	5147	PDE6D	ORPHA:2754
HP:0002789	Tachypnea	8481	OFD1	ORPHA:2754
HP:0002789	Tachypnea	317662	FAM149B1	ORPHA:2754
HP:0002789	Tachypnea	374654	KIF7	ORPHA:2754
HP:0009948	Duplication of the distal phalanx of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009948	Duplication of the distal phalanx of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009946	Polydactyly affecting the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009946	Polydactyly affecting the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009945	Duplication of phalanx of 2nd finger	7291	TWIST1	OMIM:101400
HP:0009945	Duplication of phalanx of 2nd finger	2263	FGFR2	OMIM:101400
HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0002790	Neonatal breathing dysregulation	54806	AHI1	OMIM:608629
HP:0002790	Neonatal breathing dysregulation	23322	RPGRIP1L	OMIM:611560
HP:0002790	Neonatal breathing dysregulation	80184	CEP290	OMIM:610188
HP:0002790	Neonatal breathing dysregulation	51259	TMEM216	OMIM:608091
HP:0002790	Neonatal breathing dysregulation	56623	INPP5E	OMIM:213300
HP:0002791	Hypoventilation	283446	MYO1H	OMIM:619482
HP:0002791	Hypoventilation	60482	SLC5A7	OMIM:617143
HP:0002791	Hypoventilation	54681	P4HTM	OMIM:618493
HP:0002791	Hypoventilation	4726	NDUFS6	OMIM:618232
HP:0002791	Hypoventilation	8929	PHOX2B	OMIM:209880
HP:0002791	Hypoventilation	79628	SH3TC2	ORPHA:99949
HP:0002791	Hypoventilation	8292	COLQ	ORPHA:98915
HP:0002791	Hypoventilation	3913	LAMB2	ORPHA:98915
HP:0002791	Hypoventilation	1756	DMD	OMIM:310200
HP:0002791	Hypoventilation	7841	MOGS	ORPHA:79330
HP:0002791	Hypoventilation	7841	MOGS	OMIM:606056
HP:0002791	Hypoventilation	5428	POLG	OMIM:203700
HP:0002791	Hypoventilation	29072	SETD2	OMIM:620155
HP:0002791	Hypoventilation	3908	LAMA2	ORPHA:258
HP:0002791	Hypoventilation	199221	DZIP1L	ORPHA:731
HP:0002791	Hypoventilation	5314	PKHD1	ORPHA:731
HP:0002791	Hypoventilation	1639	DCTN1	OMIM:168605
HP:0002791	Hypoventilation	1303	COL12A1	ORPHA:610
HP:0002791	Hypoventilation	1291	COL6A1	ORPHA:610
HP:0002791	Hypoventilation	1292	COL6A2	ORPHA:610
HP:0002791	Hypoventilation	1293	COL6A3	ORPHA:610
HP:0002791	Hypoventilation	7681	MKRN3	OMIM:176270
HP:0002791	Hypoventilation	3653	IPW	OMIM:176270
HP:0002791	Hypoventilation	54551	MAGEL2	OMIM:176270
HP:0002791	Hypoventilation	791114	PWRN1	OMIM:176270
HP:0002791	Hypoventilation	100033413	SNORD116-1	OMIM:176270
HP:0002791	Hypoventilation	8924	HERC2	OMIM:176270
HP:0002791	Hypoventilation	145624	PWAR1	OMIM:176270
HP:0002791	Hypoventilation	23742	NPAP1	OMIM:176270
HP:0002791	Hypoventilation	338433	SNORD115-1	OMIM:176270
HP:0002791	Hypoventilation	5813	PURA	ORPHA:314655
HP:0002791	Hypoventilation	3190	HNRNPK	ORPHA:453504
HP:0002791	Hypoventilation	3190	HNRNPK	ORPHA:352665
HP:0002791	Hypoventilation	57190	SELENON	OMIM:602771
HP:0002791	Hypoventilation	57190	SELENON	ORPHA:324604
HP:0002791	Hypoventilation	4625	MYH7	ORPHA:324604
HP:0002791	Hypoventilation	7273	TTN	ORPHA:324604
HP:0002791	Hypoventilation	7273	TTN	OMIM:603689
HP:0002791	Hypoventilation	58	ACTA1	ORPHA:171436
HP:0002791	Hypoventilation	4703	NEB	ORPHA:171436
HP:0002791	Hypoventilation	10324	KLHL41	ORPHA:171436
HP:0002791	Hypoventilation	56203	LMOD3	ORPHA:171436
HP:0002791	Hypoventilation	1073	CFL2	ORPHA:171436
HP:0002791	Hypoventilation	113278	SLC52A3	OMIM:211530
HP:0002791	Hypoventilation	79147	FKRP	OMIM:607155
HP:0002791	Hypoventilation	4204	MECP2	OMIM:300673
HP:0002791	Hypoventilation	91942	NDUFAF2	OMIM:618233
HP:0002791	Hypoventilation	3198	HOXA1	OMIM:601536
HP:0002791	Hypoventilation	10660	LBX1	OMIM:619483
HP:0002791	Hypoventilation	84665	MYPN	ORPHA:171881
HP:0002791	Hypoventilation	7169	TPM2	ORPHA:171881
HP:0002791	Hypoventilation	7170	TPM3	ORPHA:171881
HP:0002791	Hypoventilation	5979	RET	ORPHA:99803
HP:0002791	Hypoventilation	429	ASCL1	ORPHA:99803
HP:0002791	Hypoventilation	54675	CRLS1	OMIM:620167
HP:0002791	Hypoventilation	25915	NDUFAF3	ORPHA:70474
HP:0002791	Hypoventilation	4714	NDUFB8	ORPHA:70474
HP:0002791	Hypoventilation	4720	NDUFS2	ORPHA:70474
HP:0002791	Hypoventilation	9997	SCO2	ORPHA:70474
HP:0002791	Hypoventilation	6834	SURF1	ORPHA:70474
HP:0002792	Reduced vital capacity	9499	MYOT	ORPHA:266
HP:0002792	Reduced vital capacity	57190	SELENON	OMIM:602771
HP:0002792	Reduced vital capacity	7273	TTN	OMIM:603689
HP:0002792	Reduced vital capacity	7273	TTN	ORPHA:178464
HP:0002792	Reduced vital capacity	88	ACTN2	OMIM:618654
HP:0002792	Reduced vital capacity	51776	MAP3K20	OMIM:617760
HP:0002792	Reduced vital capacity	7415	VCP	ORPHA:329478
HP:0002792	Reduced vital capacity	7169	TPM2	OMIM:609285
HP:0002792	Reduced vital capacity	7169	TPM2	ORPHA:171439
HP:0002792	Reduced vital capacity	84665	MYPN	OMIM:617336
HP:0002792	Reduced vital capacity	84665	MYPN	ORPHA:171439
HP:0002792	Reduced vital capacity	79912	PYROXD1	OMIM:617258
HP:0002792	Reduced vital capacity	58	ACTA1	ORPHA:171439
HP:0002792	Reduced vital capacity	390594	KBTBD13	ORPHA:171439
HP:0002792	Reduced vital capacity	4703	NEB	ORPHA:171439
HP:0002792	Reduced vital capacity	10324	KLHL41	ORPHA:171439
HP:0002792	Reduced vital capacity	7170	TPM3	ORPHA:171439
HP:0002792	Reduced vital capacity	81846	SBF2	ORPHA:99956
HP:0002792	Reduced vital capacity	4625	MYH7	OMIM:608358
HP:0002792	Reduced vital capacity	6329	SCN4A	ORPHA:98913
HP:0002792	Reduced vital capacity	1134	CHRNA1	ORPHA:98913
HP:0002792	Reduced vital capacity	4038	LRP4	ORPHA:98913
HP:0002792	Reduced vital capacity	1305	COL13A1	ORPHA:98913
HP:0002792	Reduced vital capacity	1140	CHRNB1	ORPHA:98913
HP:0002792	Reduced vital capacity	1144	CHRND	ORPHA:98913
HP:0002792	Reduced vital capacity	1145	CHRNE	ORPHA:98913
HP:0002792	Reduced vital capacity	4593	MUSK	ORPHA:98913
HP:0002792	Reduced vital capacity	5913	RAPSN	ORPHA:98913
HP:0002792	Reduced vital capacity	375790	AGRN	ORPHA:98913
HP:0002792	Reduced vital capacity	221264	AK9	ORPHA:98913
HP:0002792	Reduced vital capacity	285489	DOK7	ORPHA:98913
HP:0002792	Reduced vital capacity	285489	DOK7	OMIM:254300
HP:0002792	Reduced vital capacity	729920	CRPPA	ORPHA:352479
HP:0002793	Abnormal pattern of respiration	3763	KCNJ6	ORPHA:435628
HP:0002793	Abnormal pattern of respiration	51343	FZR1	OMIM:620145
HP:0002793	Abnormal pattern of respiration	1278	COL1A2	ORPHA:230851
HP:0002793	Abnormal pattern of respiration	4141	MARS1	OMIM:615486
HP:0002793	Abnormal pattern of respiration	1824	DSC2	OMIM:610476
HP:0002793	Abnormal pattern of respiration	57158	JPH2	OMIM:613873
HP:0002793	Abnormal pattern of respiration	54790	TET2	ORPHA:98826
HP:0002793	Abnormal pattern of respiration	659	BMPR2	OMIM:178600
HP:0002793	Abnormal pattern of respiration	112476	PRRT2	ORPHA:98810
HP:0002793	Abnormal pattern of respiration	25953	PNKD	ORPHA:98810
HP:0002793	Abnormal pattern of respiration	1621	DBH	ORPHA:230
HP:0002793	Abnormal pattern of respiration	3043	HBB	ORPHA:231214
HP:0002793	Abnormal pattern of respiration	3043	HBB	ORPHA:231226
HP:0002793	Abnormal pattern of respiration	6340	SCNN1G	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	1080	CFTR	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	6337	SCNN1A	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	6338	SCNN1B	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	7454	WAS	ORPHA:906
HP:0002793	Abnormal pattern of respiration	7456	WIPF1	ORPHA:906
HP:0002793	Abnormal pattern of respiration	23137	SMC5	OMIM:620185
HP:0002793	Abnormal pattern of respiration	92667	MGME1	ORPHA:352447
HP:0002793	Abnormal pattern of respiration	92667	MGME1	OMIM:615084
HP:0002793	Abnormal pattern of respiration	10342	TFG	ORPHA:90117
HP:0002793	Abnormal pattern of respiration	3815	KIT	ORPHA:79455
HP:0002793	Abnormal pattern of respiration	3115	HLA-DPB1	ORPHA:133
HP:0002793	Abnormal pattern of respiration	25978	CHMP2B	ORPHA:803
HP:0002793	Abnormal pattern of respiration	3178	HNRNPA1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	8148	TAF15	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5445	PON2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9217	VAPB	ORPHA:803
HP:0002793	Abnormal pattern of respiration	8878	SQSTM1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5630	PRPH	ORPHA:803
HP:0002793	Abnormal pattern of respiration	29110	TBK1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	55830	GLT8D1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	755	CFAP410	ORPHA:803
HP:0002793	Abnormal pattern of respiration	10891	PPARGC1A	ORPHA:803
HP:0002793	Abnormal pattern of respiration	6647	SOD1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	10133	OPTN	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9896	FIG4	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5444	PON1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5446	PON3	ORPHA:803
HP:0002793	Abnormal pattern of respiration	4744	NEFH	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5216	PFN1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9782	MATR3	ORPHA:803
HP:0002793	Abnormal pattern of respiration	54209	TREM2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	7415	VCP	ORPHA:803
HP:0002793	Abnormal pattern of respiration	7415	VCP	ORPHA:435387
HP:0002793	Abnormal pattern of respiration	283	ANG	ORPHA:803
HP:0002793	Abnormal pattern of respiration	23435	TARDBP	ORPHA:803
HP:0002793	Abnormal pattern of respiration	29978	UBQLN2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2733	GLE1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2521	FUS	ORPHA:803
HP:0002793	Abnormal pattern of respiration	4750	NEK1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2043	EPHA4	ORPHA:803
HP:0002793	Abnormal pattern of respiration	6311	ATXN2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	1610	DAO	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2066	ERBB4	ORPHA:803
HP:0002793	Abnormal pattern of respiration	311	ANXA11	ORPHA:803
HP:0002793	Abnormal pattern of respiration	23025	UNC13A	ORPHA:803
HP:0002793	Abnormal pattern of respiration	899	CCNF	ORPHA:803
HP:0002793	Abnormal pattern of respiration	400916	CHCHD10	ORPHA:803
HP:0002793	Abnormal pattern of respiration	64127	NOD2	ORPHA:90340
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:79443
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:79444
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:94089
HP:0002793	Abnormal pattern of respiration	23479	ISCU	OMIM:255125
HP:0002793	Abnormal pattern of respiration	4878	NPPA	OMIM:615745
HP:0002793	Abnormal pattern of respiration	4878	NPPA	ORPHA:1344
HP:0002793	Abnormal pattern of respiration	1288	COL4A6	ORPHA:1018
HP:0002793	Abnormal pattern of respiration	1287	COL4A5	ORPHA:1018
HP:0002793	Abnormal pattern of respiration	4054	LTBP3	OMIM:617809
HP:0002793	Abnormal pattern of respiration	94	ACVRL1	OMIM:600376
HP:0002793	Abnormal pattern of respiration	6775	STAT4	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	6696	SPP1	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	3654	IRAK1	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	1776	DNASE1L3	ORPHA:36412
HP:0002793	Abnormal pattern of respiration	8675	STX16	ORPHA:94089
HP:0002793	Abnormal pattern of respiration	10102	TSFM	OMIM:610505
HP:0002793	Abnormal pattern of respiration	170302	ARX	OMIM:308350
HP:0002793	Abnormal pattern of respiration	10049	DNAJB6	OMIM:603511
HP:0002793	Abnormal pattern of respiration	57104	PNPLA2	ORPHA:565612
HP:0002793	Abnormal pattern of respiration	26277	TINF2	OMIM:127550
HP:0002793	Abnormal pattern of respiration	3949	LDLR	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	255738	PCSK9	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	26119	LDLRAP1	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	338	APOB	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	64240	ABCG5	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	64241	ABCG8	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	4633	MYL2	OMIM:608758
HP:0002793	Abnormal pattern of respiration	10320	IKZF1	ORPHA:36426
HP:0002793	Abnormal pattern of respiration	5318	PKP2	OMIM:609040
HP:0002793	Abnormal pattern of respiration	56244	BTNL2	OMIM:612387
HP:0002793	Abnormal pattern of respiration	56244	BTNL2	ORPHA:797
HP:0002793	Abnormal pattern of respiration	2717	GLA	ORPHA:324
HP:0002793	Abnormal pattern of respiration	5277	PIGA	ORPHA:447
HP:0002793	Abnormal pattern of respiration	212	ALAS2	ORPHA:75563
HP:0002793	Abnormal pattern of respiration	55863	TMEM126B	OMIM:618250
HP:0002793	Abnormal pattern of respiration	112812	FDX2	OMIM:251900
HP:0002793	Abnormal pattern of respiration	9496	TBX4	ORPHA:261279
HP:0002793	Abnormal pattern of respiration	546	ATRX	ORPHA:231401
HP:0002793	Abnormal pattern of respiration	9244	CRLF1	OMIM:272430
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:797
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:747
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	OMIM:181000
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	54795	TRPM4	ORPHA:871
HP:0002793	Abnormal pattern of respiration	6324	SCN1B	ORPHA:871
HP:0002793	Abnormal pattern of respiration	5265	SERPINA1	OMIM:613490
HP:0002793	Abnormal pattern of respiration	10526	IPO8	OMIM:619472
HP:0002793	Abnormal pattern of respiration	11222	MRPL3	OMIM:614582
HP:0002793	Abnormal pattern of respiration	5589	PRKCSH	OMIM:174050
HP:0002793	Abnormal pattern of respiration	1314	COPA	OMIM:616414
HP:0002793	Abnormal pattern of respiration	54800	KLHL24	OMIM:620236
HP:0002793	Abnormal pattern of respiration	50485	SMARCAL1	OMIM:242900
HP:0002793	Abnormal pattern of respiration	100151683	RNU4ATAC	ORPHA:2636
HP:0002793	Abnormal pattern of respiration	8815	BANF1	OMIM:614008
HP:0002793	Abnormal pattern of respiration	5236	PGM1	OMIM:614921
HP:0002793	Abnormal pattern of respiration	6609	SMPD1	OMIM:607616
HP:0002793	Abnormal pattern of respiration	2316	FLNA	ORPHA:555877
HP:0002793	Abnormal pattern of respiration	857	CAV1	OMIM:615343
HP:0002793	Abnormal pattern of respiration	857	CAV1	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1235	CCR6	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1490	CCN2	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	3663	IRF5	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1829	DSG2	OMIM:612877
HP:0002793	Abnormal pattern of respiration	9131	AIFM1	ORPHA:238329
HP:0002793	Abnormal pattern of respiration	4702	NDUFA8	OMIM:619272
HP:0002793	Abnormal pattern of respiration	4594	MMUT	ORPHA:289916
HP:0002793	Abnormal pattern of respiration	4594	MMUT	ORPHA:79312
HP:0002793	Abnormal pattern of respiration	4594	MMUT	OMIM:251000
HP:0002793	Abnormal pattern of respiration	23394	ADNP	ORPHA:404448
HP:0002793	Abnormal pattern of respiration	28981	IFT81	OMIM:617895
HP:0002793	Abnormal pattern of respiration	57128	LYRM4	OMIM:615595
HP:0002793	Abnormal pattern of respiration	55503	TRPV6	OMIM:618188
HP:0002793	Abnormal pattern of respiration	201595	STT3B	OMIM:615597
HP:0002793	Abnormal pattern of respiration	201595	STT3B	ORPHA:370924
HP:0002793	Abnormal pattern of respiration	3909	LAMA3	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	3918	LAMC2	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	3914	LAMB3	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	10559	SLC35A1	ORPHA:238459
HP:0002793	Abnormal pattern of respiration	2050	EPHB4	OMIM:617300
HP:0002793	Abnormal pattern of respiration	65082	VPS33A	OMIM:617303
HP:0002793	Abnormal pattern of respiration	65082	VPS33A	ORPHA:505248
HP:0002793	Abnormal pattern of respiration	4137	MAPT	ORPHA:240085
HP:0002793	Abnormal pattern of respiration	4137	MAPT	ORPHA:240103
HP:0002793	Abnormal pattern of respiration	84466	MEGF10	OMIM:614399
HP:0002793	Abnormal pattern of respiration	6662	SOX9	OMIM:114290
HP:0002793	Abnormal pattern of respiration	1896	EDA	OMIM:305100
HP:0002793	Abnormal pattern of respiration	2263	FGFR2	ORPHA:93260
HP:0002793	Abnormal pattern of respiration	2263	FGFR2	ORPHA:93259
HP:0002793	Abnormal pattern of respiration	2263	FGFR2	OMIM:123790
HP:0002793	Abnormal pattern of respiration	2263	FGFR2	ORPHA:1555
HP:0002793	Abnormal pattern of respiration	150094	SIK1	OMIM:616341
HP:0002793	Abnormal pattern of respiration	29967	LRP12	OMIM:164310
HP:0002793	Abnormal pattern of respiration	9570	GOSR2	OMIM:620166
HP:0002793	Abnormal pattern of respiration	7080	NKX2-1	ORPHA:209905
HP:0002793	Abnormal pattern of respiration	7080	NKX2-1	OMIM:610978
HP:0002793	Abnormal pattern of respiration	79087	ALG12	OMIM:607143
HP:0002793	Abnormal pattern of respiration	860	RUNX2	OMIM:119600
HP:0002793	Abnormal pattern of respiration	23414	ZFPM2	ORPHA:2140
HP:0002793	Abnormal pattern of respiration	9361	LONP1	ORPHA:2140
HP:0002793	Abnormal pattern of respiration	388962	BOLA3	OMIM:614299
HP:0002793	Abnormal pattern of respiration	6389	SDHA	OMIM:613642
HP:0002793	Abnormal pattern of respiration	89910	UBE3B	ORPHA:2707
HP:0002793	Abnormal pattern of respiration	6234	RPS28	OMIM:606164
HP:0002793	Abnormal pattern of respiration	4534	MTM1	ORPHA:596
HP:0002793	Abnormal pattern of respiration	7840	ALMS1	ORPHA:64
HP:0002793	Abnormal pattern of respiration	3572	IL6ST	OMIM:619751
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:151210
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:156550
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:183900
HP:0002793	Abnormal pattern of respiration	4607	MYBPC3	OMIM:115197
HP:0002793	Abnormal pattern of respiration	51660	MPC1	OMIM:614741
HP:0002793	Abnormal pattern of respiration	8239	USP9X	ORPHA:480880
HP:0002793	Abnormal pattern of respiration	8239	USP9X	OMIM:300968
HP:0002793	Abnormal pattern of respiration	773	CACNA1A	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	6507	SLC1A3	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	477	ATP1A2	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	81031	SLC2A10	ORPHA:3342
HP:0002793	Abnormal pattern of respiration	3675	ITGA3	OMIM:614748
HP:0002793	Abnormal pattern of respiration	166785	MMAA	OMIM:251100
HP:0002793	Abnormal pattern of respiration	4247	MGAT2	ORPHA:79329
HP:0002793	Abnormal pattern of respiration	8818	DPM2	OMIM:615042
HP:0002793	Abnormal pattern of respiration	8818	DPM2	ORPHA:329178
HP:0002793	Abnormal pattern of respiration	9321	TRIP11	OMIM:184260
HP:0002793	Abnormal pattern of respiration	9321	TRIP11	ORPHA:166272
HP:0002793	Abnormal pattern of respiration	2548	GAA	ORPHA:308552
HP:0002793	Abnormal pattern of respiration	51098	IFT52	OMIM:617102
HP:0002793	Abnormal pattern of respiration	6231	RPS26	OMIM:613309
HP:0002793	Abnormal pattern of respiration	56975	FAM20C	ORPHA:1832
HP:0002793	Abnormal pattern of respiration	8314	BAP1	ORPHA:50251
HP:0002793	Abnormal pattern of respiration	5373	PMM2	ORPHA:79318
HP:0002793	Abnormal pattern of respiration	8813	DPM1	OMIM:608799
HP:0002793	Abnormal pattern of respiration	64135	IFIH1	OMIM:619773
HP:0002793	Abnormal pattern of respiration	22906	TRAK1	OMIM:618201
HP:0002793	Abnormal pattern of respiration	9147	NEMF	OMIM:619099
HP:0002793	Abnormal pattern of respiration	3977	LIFR	ORPHA:3206
HP:0002793	Abnormal pattern of respiration	50943	FOXP3	ORPHA:37042
HP:0002793	Abnormal pattern of respiration	7994	KAT6A	OMIM:616268
HP:0002793	Abnormal pattern of respiration	7317	UBA1	ORPHA:1145
HP:0002793	Abnormal pattern of respiration	162417	NAGS	ORPHA:927
HP:0002793	Abnormal pattern of respiration	162417	NAGS	OMIM:237310
HP:0002793	Abnormal pattern of respiration	3458	IFNG	ORPHA:805
HP:0002793	Abnormal pattern of respiration	7248	TSC1	ORPHA:805
HP:0002793	Abnormal pattern of respiration	7249	TSC2	ORPHA:805
HP:0002793	Abnormal pattern of respiration	55681	SCYL2	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	84570	COL25A1	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	57222	ERGIC1	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	4556	MT-TE	ORPHA:2596
HP:0002793	Abnormal pattern of respiration	4556	MT-TE	ORPHA:254864
HP:0002793	Abnormal pattern of respiration	81570	CLPB	OMIM:616271
HP:0002793	Abnormal pattern of respiration	51067	YARS2	OMIM:613561
HP:0002793	Abnormal pattern of respiration	1188	CLCNKB	ORPHA:358
HP:0002793	Abnormal pattern of respiration	6559	SLC12A3	ORPHA:358
HP:0002793	Abnormal pattern of respiration	51422	PRKAG2	OMIM:261740
HP:0002793	Abnormal pattern of respiration	7167	TPI1	OMIM:615512
HP:0002793	Abnormal pattern of respiration	10806	SDCCAG8	OMIM:615993
HP:0002793	Abnormal pattern of respiration	5396	PRRX1	OMIM:202650
HP:0002793	Abnormal pattern of respiration	5396	PRRX1	ORPHA:990
HP:0002793	Abnormal pattern of respiration	5250	SLC25A3	ORPHA:91130
HP:0002793	Abnormal pattern of respiration	7512	XPNPEP2	ORPHA:100057
HP:0002793	Abnormal pattern of respiration	112	ADCY6	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	163175	LGI4	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	8506	CNTNAP1	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	5649	RELN	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	10300	KATNB1	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	54820	NDE1	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	51119	SBDS	OMIM:260400
HP:0002793	Abnormal pattern of respiration	134218	DNAJC21	OMIM:260400
HP:0002793	Abnormal pattern of respiration	6729	SRP54	OMIM:260400
HP:0002793	Abnormal pattern of respiration	10229	COQ7	OMIM:616733
HP:0002793	Abnormal pattern of respiration	54931	TRMT10C	OMIM:616974
HP:0002793	Abnormal pattern of respiration	27185	DISC1	ORPHA:171703
HP:0002793	Abnormal pattern of respiration	8320	EOMES	ORPHA:171703
HP:0002793	Abnormal pattern of respiration	11093	ADAMTS13	OMIM:274150
HP:0002793	Abnormal pattern of respiration	3736	KCNA1	ORPHA:37612
HP:0002793	Abnormal pattern of respiration	710	SERPING1	ORPHA:100050
HP:0002793	Abnormal pattern of respiration	1760	DMPK	OMIM:160900
HP:0002793	Abnormal pattern of respiration	3417	IDH1	ORPHA:99646
HP:0002793	Abnormal pattern of respiration	7547	ZIC3	OMIM:306955
HP:0002793	Abnormal pattern of respiration	427	ASAH1	ORPHA:333
HP:0002793	Abnormal pattern of respiration	1438	CSF2RA	ORPHA:264675
HP:0002793	Abnormal pattern of respiration	7084	TK2	ORPHA:254875
HP:0002793	Abnormal pattern of respiration	4998	ORC1	OMIM:224690
HP:0002793	Abnormal pattern of respiration	4998	ORC1	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	7019	TFAM	OMIM:617156
HP:0002793	Abnormal pattern of respiration	4358	MPV17	OMIM:256810
HP:0002793	Abnormal pattern of respiration	81620	CDT1	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	5000	ORC4	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	23594	ORC6	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	8318	CDC45	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	990	CDC6	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	51053	GMNN	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	54539	NDUFB11	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	1349	COX7B	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	3052	HCCS	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	22827	PUF60	ORPHA:508488
HP:0002793	Abnormal pattern of respiration	55687	TRMU	ORPHA:254864
HP:0002793	Abnormal pattern of respiration	7161	TP73	OMIM:619466
HP:0002793	Abnormal pattern of respiration	8802	SUCLG1	ORPHA:17
HP:0002793	Abnormal pattern of respiration	3868	KRT16	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3872	KRT17	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3853	KRT6A	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3854	KRT6B	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	9343	EFTUD2	OMIM:610536
HP:0002793	Abnormal pattern of respiration	26040	SETBP1	ORPHA:798
HP:0002793	Abnormal pattern of respiration	326625	MMAB	OMIM:251110
HP:0002793	Abnormal pattern of respiration	5015	OTX2	ORPHA:990
HP:0002793	Abnormal pattern of respiration	55975	KLHL7	OMIM:617055
HP:0002793	Abnormal pattern of respiration	5167	ENPP1	ORPHA:51608
HP:0002793	Abnormal pattern of respiration	368	ABCC6	ORPHA:51608
HP:0002793	Abnormal pattern of respiration	10382	TUBB4A	ORPHA:98805
HP:0002793	Abnormal pattern of respiration	56270	WDR45B	OMIM:617977
HP:0002793	Abnormal pattern of respiration	526	ATP6V1B2	ORPHA:79500
HP:0002793	Abnormal pattern of respiration	57465	TBC1D24	ORPHA:79500
HP:0002793	Abnormal pattern of respiration	25915	NDUFAF3	ORPHA:70474
HP:0002793	Abnormal pattern of respiration	4714	NDUFB8	ORPHA:70474
HP:0002793	Abnormal pattern of respiration	4720	NDUFS2	ORPHA:70474
HP:0002793	Abnormal pattern of respiration	2077	ERF	OMIM:617180
HP:0002793	Abnormal pattern of respiration	10585	POMT1	ORPHA:86812
HP:0002793	Abnormal pattern of respiration	3557	IL1RN	OMIM:612852
HP:0002793	Abnormal pattern of respiration	126792	B3GALT6	ORPHA:536467
HP:0002793	Abnormal pattern of respiration	6748	SSR4	OMIM:300934
HP:0002793	Abnormal pattern of respiration	168667	BMPER	ORPHA:66637
HP:0002793	Abnormal pattern of respiration	168667	BMPER	OMIM:608022
HP:0002793	Abnormal pattern of respiration	25974	MMACHC	ORPHA:79282
HP:0002793	Abnormal pattern of respiration	2581	GALC	ORPHA:206436
HP:0002793	Abnormal pattern of respiration	129285	PPP1R21	OMIM:619383
HP:0002793	Abnormal pattern of respiration	2294	FOXF1	ORPHA:210122
HP:0002793	Abnormal pattern of respiration	51626	DYNC2LI1	OMIM:617088
HP:0002793	Abnormal pattern of respiration	35	ACADS	ORPHA:26792
HP:0002793	Abnormal pattern of respiration	8449	DHX16	OMIM:618733
HP:0002793	Abnormal pattern of respiration	11342	RNF13	ORPHA:544503
HP:0002793	Abnormal pattern of respiration	871	SERPINH1	OMIM:613848
HP:0002793	Abnormal pattern of respiration	352909	DNAAF3	OMIM:606763
HP:0002793	Abnormal pattern of respiration	2108	ETFA	OMIM:231680
HP:0002793	Abnormal pattern of respiration	2109	ETFB	OMIM:231680
HP:0002793	Abnormal pattern of respiration	2110	ETFDH	OMIM:231680
HP:0002793	Abnormal pattern of respiration	65055	REEP1	OMIM:620011
HP:0002793	Abnormal pattern of respiration	6584	SLC22A5	OMIM:212140
HP:0002793	Abnormal pattern of respiration	4524	MTHFR	ORPHA:395
HP:0002793	Abnormal pattern of respiration	9759	HDAC4	OMIM:619797
HP:0002793	Abnormal pattern of respiration	4723	NDUFV1	OMIM:618225
HP:0002793	Abnormal pattern of respiration	4723	NDUFV1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	590	BCHE	OMIM:617936
HP:0002793	Abnormal pattern of respiration	4719	NDUFS1	OMIM:618226
HP:0002793	Abnormal pattern of respiration	4719	NDUFS1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	1798	DPAGT1	OMIM:608093
HP:0002793	Abnormal pattern of respiration	95	ACY1	ORPHA:137754
HP:0002793	Abnormal pattern of respiration	53616	ADAM22	OMIM:617933
HP:0002793	Abnormal pattern of respiration	6334	SCN8A	ORPHA:306
HP:0002793	Abnormal pattern of respiration	6326	SCN2A	ORPHA:306
HP:0002793	Abnormal pattern of respiration	6326	SCN2A	OMIM:607745
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:306
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:1949
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:439218
HP:0002793	Abnormal pattern of respiration	3786	KCNQ3	ORPHA:306
HP:0002793	Abnormal pattern of respiration	3786	KCNQ3	ORPHA:1949
HP:0002793	Abnormal pattern of respiration	5830	PEX5	OMIM:214110
HP:0002793	Abnormal pattern of respiration	256297	PTF1A	OMIM:609069
HP:0002793	Abnormal pattern of respiration	10312	TCIRG1	ORPHA:667
HP:0002793	Abnormal pattern of respiration	1186	CLCN7	ORPHA:667
HP:0002793	Abnormal pattern of respiration	29887	SNX10	ORPHA:667
HP:0002793	Abnormal pattern of respiration	8600	TNFSF11	ORPHA:667
HP:0002793	Abnormal pattern of respiration	6341	SCO1	OMIM:619048
HP:0002793	Abnormal pattern of respiration	249	ALPL	OMIM:241500
HP:0002793	Abnormal pattern of respiration	4695	NDUFA2	OMIM:618235
HP:0002793	Abnormal pattern of respiration	4695	NDUFA2	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	126328	NDUFA11	OMIM:618236
HP:0002793	Abnormal pattern of respiration	6536	SLC6A9	OMIM:617301
HP:0002793	Abnormal pattern of respiration	29968	PSAT1	OMIM:610992
HP:0002793	Abnormal pattern of respiration	1644	DDC	OMIM:608643
HP:0002793	Abnormal pattern of respiration	5105	PCK1	OMIM:261680
HP:0002793	Abnormal pattern of respiration	55906	ZC4H2	OMIM:314580
HP:0002793	Abnormal pattern of respiration	8260	NAA10	OMIM:300855
HP:0002793	Abnormal pattern of respiration	6773	STAT2	OMIM:618886
HP:0002793	Abnormal pattern of respiration	114034	TOE1	OMIM:614969
HP:0002793	Abnormal pattern of respiration	1509	CTSD	OMIM:610127
HP:0002793	Abnormal pattern of respiration	5621	PRNP	OMIM:600072
HP:0002793	Abnormal pattern of respiration	3767	KCNJ11	ORPHA:79644
HP:0002793	Abnormal pattern of respiration	8604	SLC25A12	OMIM:612949
HP:0002793	Abnormal pattern of respiration	2898	GRIK2	OMIM:619580
HP:0002793	Abnormal pattern of respiration	9184	BUB3	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	699	BUB1	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	9319	TRIP13	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	701	BUB1B	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	84314	TMEM107	OMIM:617563
HP:0002793	Abnormal pattern of respiration	4700	NDUFA6	OMIM:618253
HP:0002793	Abnormal pattern of respiration	56922	MCCC1	OMIM:210200
HP:0002793	Abnormal pattern of respiration	2783	GNB2	OMIM:619503
HP:0002793	Abnormal pattern of respiration	4632	MYL1	OMIM:618414
HP:0002793	Abnormal pattern of respiration	2752	GLUL	OMIM:610015
HP:0002793	Abnormal pattern of respiration	9152	SLC6A5	OMIM:614618
HP:0002793	Abnormal pattern of respiration	8943	AP3D1	OMIM:617050
HP:0002793	Abnormal pattern of respiration	11212	PLPBP	OMIM:617290
HP:0002793	Abnormal pattern of respiration	11019	LIAS	OMIM:614462
HP:0002793	Abnormal pattern of respiration	9289	ADGRG1	ORPHA:98889
HP:0002793	Abnormal pattern of respiration	5297	PI4KA	ORPHA:98889
HP:0002793	Abnormal pattern of respiration	728294	D2HGDH	OMIM:600721
HP:0002793	Abnormal pattern of respiration	23522	KAT6B	ORPHA:85201
HP:0002793	Abnormal pattern of respiration	116461	TSEN15	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	79042	TSEN34	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	80746	TSEN2	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	51091	SEPSECS	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	4976	OPA1	OMIM:616896
HP:0002793	Abnormal pattern of respiration	2741	GLRA1	OMIM:149400
HP:0002793	Abnormal pattern of respiration	10243	GPHN	OMIM:149400
HP:0002793	Abnormal pattern of respiration	9373	PLAA	ORPHA:521426
HP:0002793	Abnormal pattern of respiration	9373	PLAA	OMIM:617527
HP:0002793	Abnormal pattern of respiration	57038	RARS2	OMIM:611523
HP:0002793	Abnormal pattern of respiration	9562	MINPP1	OMIM:619527
HP:0002793	Abnormal pattern of respiration	8241	RBM10	ORPHA:2886
HP:0002793	Abnormal pattern of respiration	139285	AMER1	OMIM:300373
HP:0002793	Abnormal pattern of respiration	80704	SLC19A3	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	55572	FOXRED1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4729	NDUFV2	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	55967	NDUFA12	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	51204	TACO1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4724	NDUFS4	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4724	NDUFS4	OMIM:252010
HP:0002793	Abnormal pattern of respiration	137682	NDUFAF6	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4722	NDUFS3	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	79133	NDUFAF5	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	100131801	PET100	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	1355	COX15	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	1892	ECHS1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	1892	ECHS1	OMIM:616277
HP:0002793	Abnormal pattern of respiration	123263	MTFMT	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	51079	NDUFA13	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	374291	NDUFS7	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4705	NDUFA10	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	51601	LIPT1	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4697	NDUFA4	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	4704	NDUFA9	ORPHA:255241
HP:0002793	Abnormal pattern of respiration	1376	CPT2	OMIM:608836
HP:0002793	Abnormal pattern of respiration	54941	RNF125	OMIM:616260
HP:0002793	Abnormal pattern of respiration	3798	KIF5A	OMIM:617235
HP:0002793	Abnormal pattern of respiration	5194	PEX13	OMIM:614883
HP:0002793	Abnormal pattern of respiration	3339	HSPG2	ORPHA:800
HP:0002793	Abnormal pattern of respiration	221927	BRAT1	OMIM:618056
HP:0002793	Abnormal pattern of respiration	221927	BRAT1	OMIM:614498
HP:0002793	Abnormal pattern of respiration	667	DST	OMIM:614653
HP:0002793	Abnormal pattern of respiration	80199	FUZ	ORPHA:1136
HP:0002793	Abnormal pattern of respiration	3329	HSPD1	OMIM:612233
HP:0002793	Abnormal pattern of respiration	498	ATP5F1A	OMIM:615228
HP:0002793	Abnormal pattern of respiration	3155	HMGCL	ORPHA:20
HP:0002793	Abnormal pattern of respiration	137814	NKX2-6	ORPHA:3384
HP:0002793	Abnormal pattern of respiration	23129	PLXND1	ORPHA:3384
HP:0002793	Abnormal pattern of respiration	763	CA5A	OMIM:615751
HP:0002793	Abnormal pattern of respiration	4519	MT-CYB	ORPHA:137675
HP:0002793	Abnormal pattern of respiration	5019	OXCT1	OMIM:245050
HP:0002793	Abnormal pattern of respiration	90624	LYRM7	OMIM:615838
HP:0002793	Abnormal pattern of respiration	10056	FARSB	OMIM:613658
HP:0002793	Abnormal pattern of respiration	6261	RYR1	ORPHA:466650
HP:0002793	Abnormal pattern of respiration	6261	RYR1	ORPHA:423
HP:0002793	Abnormal pattern of respiration	779	CACNA1S	ORPHA:423
HP:0002793	Abnormal pattern of respiration	374354	NHLRC2	OMIM:618278
HP:0002793	Abnormal pattern of respiration	3508	IGHMBP2	OMIM:604320
HP:0002793	Abnormal pattern of respiration	10166	SLC25A15	ORPHA:415
HP:0002793	Abnormal pattern of respiration	38	ACAT1	ORPHA:134
HP:0002793	Abnormal pattern of respiration	388753	COA6	OMIM:616501
HP:0002793	Abnormal pattern of respiration	340061	STING1	OMIM:615934
HP:0002793	Abnormal pattern of respiration	439	GET3	OMIM:620203
HP:0002793	Abnormal pattern of respiration	79583	TMEM231	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	51524	TMEM138	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	23090	ZNF423	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	506	ATP5F1B	OMIM:620085
HP:0002793	Abnormal pattern of respiration	5095	PCCA	OMIM:606054
HP:0002793	Abnormal pattern of respiration	5096	PCCB	OMIM:606054
HP:0002793	Abnormal pattern of respiration	51025	PAM16	OMIM:613320
HP:0002793	Abnormal pattern of respiration	5826	ABCD4	OMIM:614857
HP:0002793	Abnormal pattern of respiration	6005	RHAG	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	6006	RHCE	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	6007	RHD	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	54681	P4HTM	OMIM:618493
HP:0002793	Abnormal pattern of respiration	4726	NDUFS6	OMIM:618232
HP:0002793	Abnormal pattern of respiration	79628	SH3TC2	ORPHA:99949
HP:0002793	Abnormal pattern of respiration	7841	MOGS	ORPHA:79330
HP:0002793	Abnormal pattern of respiration	7841	MOGS	OMIM:606056
HP:0002793	Abnormal pattern of respiration	29072	SETD2	OMIM:620155
HP:0002793	Abnormal pattern of respiration	3908	LAMA2	ORPHA:258
HP:0002793	Abnormal pattern of respiration	199221	DZIP1L	ORPHA:731
HP:0002793	Abnormal pattern of respiration	5314	PKHD1	ORPHA:731
HP:0002793	Abnormal pattern of respiration	1639	DCTN1	OMIM:168605
HP:0002793	Abnormal pattern of respiration	7681	MKRN3	OMIM:176270
HP:0002793	Abnormal pattern of respiration	3653	IPW	OMIM:176270
HP:0002793	Abnormal pattern of respiration	791114	PWRN1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	100033413	SNORD116-1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	8924	HERC2	OMIM:176270
HP:0002793	Abnormal pattern of respiration	145624	PWAR1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	23742	NPAP1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	338433	SNORD115-1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	5813	PURA	ORPHA:314655
HP:0002793	Abnormal pattern of respiration	7259	TSPYL1	ORPHA:168593
HP:0002793	Abnormal pattern of respiration	7259	TSPYL1	OMIM:608800
HP:0002793	Abnormal pattern of respiration	4487	MSX1	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	5818	NECTIN1	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	8626	TP63	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	3664	IRF6	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	2260	FGFR1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2260	FGFR1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	10735	STAG2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	10735	STAG2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2767	GNA11	ORPHA:428
HP:0002793	Abnormal pattern of respiration	846	CASR	ORPHA:428
HP:0002793	Abnormal pattern of respiration	3593	IL12B	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	3106	HLA-B	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	6945	MLX	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	51322	WAC	ORPHA:466950
HP:0002793	Abnormal pattern of respiration	5903	RANBP2	ORPHA:88619
HP:0002793	Abnormal pattern of respiration	2629	GBA1	ORPHA:77260
HP:0002793	Abnormal pattern of respiration	27161	AGO2	OMIM:619149
HP:0002793	Abnormal pattern of respiration	4867	NPHP1	ORPHA:220497
HP:0002793	Abnormal pattern of respiration	23007	PLCH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	8367	H4C5	OMIM:619950
HP:0002793	Abnormal pattern of respiration	57003	CCDC47	OMIM:618268
HP:0002793	Abnormal pattern of respiration	23126	POGZ	OMIM:616364
HP:0002793	Abnormal pattern of respiration	23126	POGZ	ORPHA:468678
HP:0002793	Abnormal pattern of respiration	51604	PIGT	ORPHA:369837
HP:0002793	Abnormal pattern of respiration	1387	CREBBP	OMIM:180849
HP:0002793	Abnormal pattern of respiration	1387	CREBBP	ORPHA:353281
HP:0002793	Abnormal pattern of respiration	1387	CREBBP	ORPHA:353277
HP:0002793	Abnormal pattern of respiration	2033	EP300	OMIM:180849
HP:0002793	Abnormal pattern of respiration	2033	EP300	ORPHA:353284
HP:0002793	Abnormal pattern of respiration	59341	TRPV4	OMIM:606071
HP:0002793	Abnormal pattern of respiration	23314	SATB2	ORPHA:251028
HP:0002793	Abnormal pattern of respiration	775	CACNA1C	OMIM:620029
HP:0002793	Abnormal pattern of respiration	8087	FXR1	OMIM:618822
HP:0002793	Abnormal pattern of respiration	8087	FXR1	OMIM:618823
HP:0002793	Abnormal pattern of respiration	1756	DMD	OMIM:310200
HP:0002793	Abnormal pattern of respiration	259232	NALCN	ORPHA:371364
HP:0002793	Abnormal pattern of respiration	285175	UNC80	ORPHA:371364
HP:0002793	Abnormal pattern of respiration	781	CACNA2D1	OMIM:620149
HP:0002793	Abnormal pattern of respiration	10128	LRPPRC	ORPHA:70472
HP:0002793	Abnormal pattern of respiration	2887	GRB10	ORPHA:96182
HP:0002793	Abnormal pattern of respiration	51611	DPH5	OMIM:620070
HP:0002793	Abnormal pattern of respiration	5575	PRKAR1B	OMIM:619680
HP:0002793	Abnormal pattern of respiration	6452	SH3BP2	ORPHA:184
HP:0002793	Abnormal pattern of respiration	4854	NOTCH3	OMIM:130720
HP:0002793	Abnormal pattern of respiration	7750	ZMYM2	OMIM:619522
HP:0002793	Abnormal pattern of respiration	9578	CDC42BPB	OMIM:619841
HP:0002793	Abnormal pattern of respiration	283489	CHAMP1	OMIM:616579
HP:0002793	Abnormal pattern of respiration	6492	SIM1	ORPHA:398079
HP:0002793	Abnormal pattern of respiration	55768	NGLY1	ORPHA:404454
HP:0002793	Abnormal pattern of respiration	6638	SNRPN	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	6638	SNRPN	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	6638	SNRPN	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	54551	MAGEL2	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	54551	MAGEL2	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	54551	MAGEL2	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	54551	MAGEL2	ORPHA:398069
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	79158	GNPTAB	ORPHA:576
HP:0002793	Abnormal pattern of respiration	23299	BICD2	OMIM:615290
HP:0002793	Abnormal pattern of respiration	6497	SKI	OMIM:182212
HP:0002793	Abnormal pattern of respiration	4841	NONO	ORPHA:466791
HP:0002793	Abnormal pattern of respiration	4784	NFIX	OMIM:602535
HP:0002793	Abnormal pattern of respiration	8888	MCM3AP	OMIM:618124
HP:0002793	Abnormal pattern of respiration	3423	IDS	OMIM:309900
HP:0002793	Abnormal pattern of respiration	650	BMP2	OMIM:617877
HP:0002793	Abnormal pattern of respiration	57479	PRR12	OMIM:619539
HP:0002793	Abnormal pattern of respiration	2990	GUSB	OMIM:253220
HP:0002793	Abnormal pattern of respiration	23219	FBXO28	OMIM:619777
HP:0002793	Abnormal pattern of respiration	1513	CTSK	ORPHA:763
HP:0002793	Abnormal pattern of respiration	2261	FGFR3	ORPHA:15
HP:0002793	Abnormal pattern of respiration	7703	PCGF2	OMIM:618371
HP:0002793	Abnormal pattern of respiration	9401	RECQL4	OMIM:218600
HP:0002793	Abnormal pattern of respiration	171023	ASXL1	ORPHA:97297
HP:0002793	Abnormal pattern of respiration	4340	MOG	OMIM:614250
HP:0002793	Abnormal pattern of respiration	372	ARCN1	OMIM:617164
HP:0002793	Abnormal pattern of respiration	2902	GRIN1	OMIM:614254
HP:0002793	Abnormal pattern of respiration	1822	ATN1	OMIM:618494
HP:0002793	Abnormal pattern of respiration	1642	DDB1	OMIM:619426
HP:0002793	Abnormal pattern of respiration	55770	EXOC2	OMIM:619306
HP:0002793	Abnormal pattern of respiration	9230	RAB11B	OMIM:617807
HP:0002793	Abnormal pattern of respiration	3265	HRAS	OMIM:218040
HP:0002793	Abnormal pattern of respiration	3425	IDUA	OMIM:607016
HP:0002793	Abnormal pattern of respiration	3425	IDUA	OMIM:607015
HP:0002793	Abnormal pattern of respiration	760	CA2	ORPHA:2785
HP:0002793	Abnormal pattern of respiration	9895	TECPR2	ORPHA:320385
HP:0002793	Abnormal pattern of respiration	9895	TECPR2	OMIM:615031
HP:0002793	Abnormal pattern of respiration	54902	TTC19	OMIM:615157
HP:0002793	Abnormal pattern of respiration	493856	CISD2	ORPHA:3463
HP:0002793	Abnormal pattern of respiration	7466	WFS1	ORPHA:3463
HP:0002793	Abnormal pattern of respiration	415	ARSL	ORPHA:79345
HP:0002793	Abnormal pattern of respiration	283989	TSEN54	ORPHA:166063
HP:0002793	Abnormal pattern of respiration	478	ATP1A3	OMIM:619606
HP:0002793	Abnormal pattern of respiration	10716	TBR1	ORPHA:1617
HP:0002793	Abnormal pattern of respiration	5660	PSAP	OMIM:611722
HP:0002793	Abnormal pattern of respiration	5160	PDHA1	OMIM:312170
HP:0002793	Abnormal pattern of respiration	3717	JAK2	OMIM:133100
HP:0002793	Abnormal pattern of respiration	10019	SH2B3	OMIM:133100
HP:0002793	Abnormal pattern of respiration	2057	EPOR	OMIM:133100
HP:0002793	Abnormal pattern of respiration	2057	EPOR	ORPHA:90042
HP:0002793	Abnormal pattern of respiration	291	SLC25A4	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	5428	POLG	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	56652	TWNK	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	11232	POLG2	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	50484	RRM2B	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	1727	CYB5R3	OMIM:250800
HP:0002793	Abnormal pattern of respiration	1727	CYB5R3	ORPHA:621
HP:0002793	Abnormal pattern of respiration	4574	MT-TS1	OMIM:220110
HP:0002793	Abnormal pattern of respiration	4570	MT-TN	OMIM:220110
HP:0002793	Abnormal pattern of respiration	6834	SURF1	OMIM:220110
HP:0002793	Abnormal pattern of respiration	1763	DNA2	OMIM:615156
HP:0002793	Abnormal pattern of respiration	1763	DNA2	ORPHA:352470
HP:0002793	Abnormal pattern of respiration	7414	VCL	OMIM:613255
HP:0002793	Abnormal pattern of respiration	84334	COA8	ORPHA:436271
HP:0002793	Abnormal pattern of respiration	63895	PIEZO2	OMIM:108145
HP:0002793	Abnormal pattern of respiration	1528	CYB5A	ORPHA:621
HP:0002793	Abnormal pattern of respiration	4000	LMNA	OMIM:181350
HP:0002793	Abnormal pattern of respiration	4000	LMNA	ORPHA:740
HP:0002793	Abnormal pattern of respiration	5339	PLEC	ORPHA:254361
HP:0002793	Abnormal pattern of respiration	10269	ZMPSTE24	ORPHA:740
HP:0002793	Abnormal pattern of respiration	6440	SFTPC	OMIM:178500
HP:0002793	Abnormal pattern of respiration	6440	SFTPC	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	727897	MUC5B	OMIM:178500
HP:0002793	Abnormal pattern of respiration	727897	MUC5B	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	729238	SFTPA2	OMIM:178500
HP:0002793	Abnormal pattern of respiration	729238	SFTPA2	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	7015	TERT	OMIM:178500
HP:0002793	Abnormal pattern of respiration	7015	TERT	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	57570	TRMT5	OMIM:616539
HP:0002793	Abnormal pattern of respiration	8292	COLQ	ORPHA:98915
HP:0002793	Abnormal pattern of respiration	3913	LAMB2	ORPHA:98915
HP:0002793	Abnormal pattern of respiration	5573	PRKAR1A	ORPHA:615
HP:0002793	Abnormal pattern of respiration	5573	PRKAR1A	ORPHA:520
HP:0002793	Abnormal pattern of respiration	10551	AGR2	OMIM:620233
HP:0002793	Abnormal pattern of respiration	2022	ENG	OMIM:187300
HP:0002793	Abnormal pattern of respiration	34	ACADM	ORPHA:42
HP:0002793	Abnormal pattern of respiration	79572	ATP13A3	OMIM:265400
HP:0002793	Abnormal pattern of respiration	79991	STN1	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	653509	SFTPA1	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	21	ABCA3	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	21	ABCA3	OMIM:610921
HP:0002793	Abnormal pattern of respiration	1832	DSP	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	10144	FAM13A	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	23250	ATP11A	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	91039	DPP9	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	51750	RTEL1	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	7012	TERC	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	5073	PARN	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	4634	MYL3	OMIM:608751
HP:0002793	Abnormal pattern of respiration	5837	PYGM	ORPHA:368
HP:0002793	Abnormal pattern of respiration	6774	STAT3	ORPHA:520
HP:0002793	Abnormal pattern of respiration	5371	PML	ORPHA:520
HP:0002793	Abnormal pattern of respiration	5914	RARA	ORPHA:520
HP:0002793	Abnormal pattern of respiration	359948	IRF2BP2	ORPHA:520
HP:0002793	Abnormal pattern of respiration	81608	FIP1L1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	4869	NPM1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	54880	BCOR	ORPHA:520
HP:0002793	Abnormal pattern of respiration	64859	NABP1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	6777	STAT5B	ORPHA:520
HP:0002793	Abnormal pattern of respiration	4926	NUMA1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	7704	ZBTB16	ORPHA:520
HP:0002793	Abnormal pattern of respiration	79718	TBL1XR1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	440275	EIF2AK4	ORPHA:199241
HP:0002793	Abnormal pattern of respiration	1439	CSF2RB	OMIM:614370
HP:0002793	Abnormal pattern of respiration	2992	GYG1	ORPHA:263297
HP:0002793	Abnormal pattern of respiration	10568	SLC34A2	ORPHA:60025
HP:0002793	Abnormal pattern of respiration	7134	TNNC1	OMIM:613243
HP:0002793	Abnormal pattern of respiration	79600	TCTN1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	79848	CSPP1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	51684	SUFU	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54806	AHI1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54806	AHI1	OMIM:608629
HP:0002793	Abnormal pattern of respiration	153241	CEP120	ORPHA:475
HP:0002793	Abnormal pattern of respiration	91147	TMEM67	ORPHA:475
HP:0002793	Abnormal pattern of respiration	9731	CEP104	ORPHA:475
HP:0002793	Abnormal pattern of respiration	219844	HYLS1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	23247	KATNIP	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54903	MKS1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	95681	CEP41	ORPHA:475
HP:0002793	Abnormal pattern of respiration	9786	KIAA0586	ORPHA:475
HP:0002793	Abnormal pattern of respiration	56623	INPP5E	ORPHA:475
HP:0002793	Abnormal pattern of respiration	56623	INPP5E	OMIM:213300
HP:0002793	Abnormal pattern of respiration	79867	TCTN2	ORPHA:475
HP:0002793	Abnormal pattern of respiration	80776	B9D2	ORPHA:475
HP:0002793	Abnormal pattern of respiration	10464	PIBF1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	80210	ARMC9	ORPHA:475
HP:0002793	Abnormal pattern of respiration	23116	TOGARAM1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	25776	CBY1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	27077	B9D1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	403	ARL3	ORPHA:475
HP:0002793	Abnormal pattern of respiration	65062	TMEM237	ORPHA:475
HP:0002793	Abnormal pattern of respiration	37	ACADVL	ORPHA:26793
HP:0002793	Abnormal pattern of respiration	7385	UQCRC2	OMIM:615160
HP:0002793	Abnormal pattern of respiration	23322	RPGRIP1L	OMIM:611560
HP:0002793	Abnormal pattern of respiration	80184	CEP290	OMIM:610188
HP:0002793	Abnormal pattern of respiration	51259	TMEM216	OMIM:608091
HP:0002793	Abnormal pattern of respiration	51259	TMEM216	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	10210	TOPORS	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	9851	KIAA0753	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	26123	TCTN3	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	5147	PDE6D	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	8481	OFD1	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	317662	FAM149B1	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	374654	KIF7	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	3190	HNRNPK	ORPHA:453504
HP:0002793	Abnormal pattern of respiration	3190	HNRNPK	ORPHA:352665
HP:0002793	Abnormal pattern of respiration	57190	SELENON	OMIM:602771
HP:0002793	Abnormal pattern of respiration	57190	SELENON	ORPHA:324604
HP:0002793	Abnormal pattern of respiration	4625	MYH7	ORPHA:324604
HP:0002793	Abnormal pattern of respiration	58	ACTA1	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	7169	TPM2	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	4703	NEB	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	10324	KLHL41	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	56203	LMOD3	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	1073	CFL2	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	1303	COL12A1	OMIM:616470
HP:0002793	Abnormal pattern of respiration	1291	COL6A1	OMIM:254090
HP:0002793	Abnormal pattern of respiration	1292	COL6A2	OMIM:254090
HP:0002793	Abnormal pattern of respiration	1293	COL6A3	OMIM:254090
HP:0002793	Abnormal pattern of respiration	113278	SLC52A3	OMIM:211530
HP:0002793	Abnormal pattern of respiration	79147	FKRP	OMIM:607155
HP:0002793	Abnormal pattern of respiration	8929	PHOX2B	OMIM:209880
HP:0002793	Abnormal pattern of respiration	22854	NTNG1	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	4204	MECP2	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	8243	SMC1A	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	1145	CHRNE	OMIM:605809
HP:0002793	Abnormal pattern of respiration	64116	SLC39A8	ORPHA:468699
HP:0002793	Abnormal pattern of respiration	10667	FARS2	ORPHA:466722
HP:0002793	Abnormal pattern of respiration	788	SLC25A20	ORPHA:159
HP:0002793	Abnormal pattern of respiration	25792	CIZ1	ORPHA:420492
HP:0002793	Abnormal pattern of respiration	11011	TLK2	OMIM:618050
HP:0002793	Abnormal pattern of respiration	1137	CHRNA4	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1135	CHRNA2	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	57010	CABP4	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1141	CHRNB2	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	57582	KCNT1	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1392	CRH	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	9681	DEPDC5	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	4535	MT-ND1	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4536	MT-ND2	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4537	MT-ND3	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4538	MT-ND4	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4567	MT-TL1	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4578	MT-TW	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4577	MT-TV	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4508	MT-ATP6	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4540	MT-ND5	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4541	MT-ND6	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4566	MT-TK	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	6792	CDKL5	OMIM:300672
HP:0002793	Abnormal pattern of respiration	6513	SLC2A1	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2562	GABRB3	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2554	GABRA1	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	8912	CACNA1H	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	8629	JRK	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2566	GABRG2	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2203	FBP1	OMIM:229700
HP:0002793	Abnormal pattern of respiration	6857	SYT1	ORPHA:522077
HP:0002793	Abnormal pattern of respiration	200894	ARL13B	OMIM:612291
HP:0002793	Abnormal pattern of respiration	7386	UQCRFS1	OMIM:618775
HP:0002793	Abnormal pattern of respiration	26047	CNTNAP2	OMIM:610042
HP:0002793	Abnormal pattern of respiration	816	CAMK2B	OMIM:617799
HP:0002793	Abnormal pattern of respiration	9568	GABBR2	OMIM:617903
HP:0002793	Abnormal pattern of respiration	3141	HLCS	OMIM:253270
HP:0002793	Abnormal pattern of respiration	9378	NRXN1	OMIM:614325
HP:0002793	Abnormal pattern of respiration	686	BTD	ORPHA:79241
HP:0002793	Abnormal pattern of respiration	65250	CPLANE1	OMIM:614615
HP:0002793	Abnormal pattern of respiration	6925	TCF4	ORPHA:2896
HP:0002793	Abnormal pattern of respiration	8573	CASK	OMIM:300749
HP:0002793	Abnormal pattern of respiration	60482	SLC5A7	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	4649	MYO9A	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	1305	COL13A1	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	1103	CHAT	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	6576	SLC25A1	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	6843	VAMP1	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	375790	AGRN	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	127833	SYT2	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	6572	SLC18A3	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	6616	SNAP25	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	2258	FGF13	OMIM:301058
HP:0002793	Abnormal pattern of respiration	4728	NDUFS8	OMIM:618222
HP:0002793	Abnormal pattern of respiration	57545	CC2D2A	OMIM:619111
HP:0002793	Abnormal pattern of respiration	112939	NACC1	ORPHA:500545
HP:0002793	Abnormal pattern of respiration	9200	HACD1	OMIM:619967
HP:0002793	Abnormal pattern of respiration	36	ACADSB	OMIM:610006
HP:0002793	Abnormal pattern of respiration	8398	PLA2G6	ORPHA:35069
HP:0002793	Abnormal pattern of respiration	6331	SCN5A	OMIM:272120
HP:0002793	Abnormal pattern of respiration	3198	HOXA1	OMIM:601536
HP:0002793	Abnormal pattern of respiration	10660	LBX1	OMIM:619483
HP:0002793	Abnormal pattern of respiration	7170	TPM3	ORPHA:171881
HP:0002793	Abnormal pattern of respiration	54675	CRLS1	OMIM:620167
HP:0002793	Abnormal pattern of respiration	7291	TWIST1	ORPHA:794
HP:0002793	Abnormal pattern of respiration	2615	LRRC32	OMIM:619074
HP:0002793	Abnormal pattern of respiration	6197	RPS6KA3	ORPHA:192
HP:0002793	Abnormal pattern of respiration	54892	NCAPG2	OMIM:618460
HP:0002793	Abnormal pattern of respiration	2132	EXT2	OMIM:616682
HP:0002793	Abnormal pattern of respiration	26005	C2CD3	ORPHA:434179
HP:0002793	Abnormal pattern of respiration	27125	AFF4	OMIM:616368
HP:0002793	Abnormal pattern of respiration	27125	AFF4	ORPHA:444077
HP:0002793	Abnormal pattern of respiration	10060	ABCC9	OMIM:619719
HP:0002793	Abnormal pattern of respiration	8405	SPOP	OMIM:618829
HP:0002793	Abnormal pattern of respiration	411	ARSB	OMIM:253200
HP:0002793	Abnormal pattern of respiration	91942	NDUFAF2	OMIM:618233
HP:0002793	Abnormal pattern of respiration	2934	GSN	ORPHA:85448
HP:0002793	Abnormal pattern of respiration	65993	MRPS34	OMIM:617664
HP:0002793	Abnormal pattern of respiration	9442	MED27	OMIM:619286
HP:0002793	Abnormal pattern of respiration	473	RERE	OMIM:616975
HP:0002793	Abnormal pattern of respiration	9702	CEP57	OMIM:614114
HP:0002793	Abnormal pattern of respiration	51341	ZBTB7A	OMIM:619769
HP:0002793	Abnormal pattern of respiration	10743	RAI1	ORPHA:1713
HP:0002793	Abnormal pattern of respiration	10020	GNE	OMIM:269921
HP:0002793	Abnormal pattern of respiration	10020	GNE	ORPHA:3166
HP:0002793	Abnormal pattern of respiration	738	VPS51	OMIM:618606
HP:0002793	Abnormal pattern of respiration	201163	FLCN	OMIM:610883
HP:0002793	Abnormal pattern of respiration	51574	LARP7	ORPHA:319671
HP:0002793	Abnormal pattern of respiration	27286	SRPX2	ORPHA:1945
HP:0002793	Abnormal pattern of respiration	2903	GRIN2A	ORPHA:1945
HP:0002793	Abnormal pattern of respiration	9049	AIP	ORPHA:963
HP:0002793	Abnormal pattern of respiration	1281	COL3A1	ORPHA:286
HP:0002793	Abnormal pattern of respiration	25942	SIN3A	OMIM:613406
HP:0002793	Abnormal pattern of respiration	54496	PRMT7	ORPHA:464288
HP:0002793	Abnormal pattern of respiration	1801	DPH1	ORPHA:459061
HP:0002793	Abnormal pattern of respiration	1499	CTNNB1	ORPHA:54595
HP:0002793	Abnormal pattern of respiration	673	BRAF	ORPHA:54595
HP:0002793	Abnormal pattern of respiration	22943	DKK1	ORPHA:268882
HP:0002793	Abnormal pattern of respiration	7874	USP7	OMIM:616863
HP:0002793	Abnormal pattern of respiration	133686	NADK2	ORPHA:431361
HP:0002793	Abnormal pattern of respiration	27235	COQ2	ORPHA:227510
HP:0002793	Abnormal pattern of respiration	27235	COQ2	ORPHA:98933
HP:0002793	Abnormal pattern of respiration	5631	PRPS1	ORPHA:423479
HP:0002793	Abnormal pattern of respiration	8621	CDK13	OMIM:617360
HP:0002793	Abnormal pattern of respiration	8911	CACNA1I	OMIM:620114
HP:0002793	Abnormal pattern of respiration	5979	RET	ORPHA:99803
HP:0002793	Abnormal pattern of respiration	429	ASCL1	ORPHA:99803
HP:0002793	Abnormal pattern of respiration	9997	SCO2	OMIM:604377
HP:0002793	Abnormal pattern of respiration	2744	GLS	OMIM:618328
HP:0002793	Abnormal pattern of respiration	16	AARS1	OMIM:619661
HP:0002793	Abnormal pattern of respiration	4629	MYH11	ORPHA:229
HP:0002793	Abnormal pattern of respiration	4629	MYH11	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7046	TGFBR1	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7048	TGFBR2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4015	LOX	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4087	SMAD2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7043	TGFB3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4088	SMAD3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7042	TGFB2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4089	SMAD4	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	2200	FBN1	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	59	ACTA2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	5592	PRKG1	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	2301	FOXE3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4144	MAT2A	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	23493	HEY2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	8076	MFAP5	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4638	MYLK	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	2006	ELN	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	84705	GTPBP3	ORPHA:444013
HP:0002793	Abnormal pattern of respiration	7092	TLL1	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	57057	TBX20	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	4624	MYH6	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	1482	NKX2-5	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	70	ACTC1	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	10370	CITED2	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	2626	GATA4	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	2627	GATA6	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	1410	CRYAB	OMIM:608810
HP:0002793	Abnormal pattern of respiration	7273	TTN	ORPHA:178464
HP:0002793	Abnormal pattern of respiration	84665	MYPN	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	2318	FLNC	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	7139	TNNT2	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	7137	TNNI3	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	10112	KIF20A	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	6329	SCN4A	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1134	CHRNA1	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	4038	LRP4	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1140	CHRNB1	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1144	CHRND	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	4593	MUSK	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	5913	RAPSN	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	221264	AK9	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	285489	DOK7	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	51778	MYOZ2	OMIM:613838
HP:0002793	Abnormal pattern of respiration	27245	AHDC1	ORPHA:412069
HP:0002793	Abnormal pattern of respiration	27245	AHDC1	OMIM:615829
HP:0002793	Abnormal pattern of respiration	5332	PLCB4	OMIM:614669
HP:0002793	Abnormal pattern of respiration	5332	PLCB4	ORPHA:137888
HP:0002793	Abnormal pattern of respiration	1906	EDN1	ORPHA:137888
HP:0002793	Abnormal pattern of respiration	2773	GNAI3	ORPHA:137888
HP:0002793	Abnormal pattern of respiration	2773	GNAI3	OMIM:602483
HP:0002793	Abnormal pattern of respiration	341208	HEPHL1	OMIM:261990
HP:0002793	Abnormal pattern of respiration	83550	GPR101	OMIM:300942
HP:0002793	Abnormal pattern of respiration	6439	SFTPB	ORPHA:70587
HP:0002793	Abnormal pattern of respiration	27429	HTRA2	OMIM:617248
HP:0002793	Abnormal pattern of respiration	283446	MYO1H	OMIM:619482
HP:0002793	Abnormal pattern of respiration	8021	NUP214	OMIM:618426
HP:0002793	Abnormal pattern of respiration	219854	TMEM218	OMIM:619562
HP:0002793	Abnormal pattern of respiration	128240	NAXE	OMIM:617186
HP:0002795	Abnormal respiratory system physiology	4921	DDR2	OMIM:271665
HP:0002795	Abnormal respiratory system physiology	1736	DKC1	OMIM:305000
HP:0002795	Abnormal respiratory system physiology	4568	MT-TL2	ORPHA:663
HP:0002795	Abnormal respiratory system physiology	114548	NLRP3	ORPHA:575
HP:0002795	Abnormal respiratory system physiology	54	ACP5	OMIM:607944
HP:0002795	Abnormal respiratory system physiology	2483	FRG1	OMIM:158900
HP:0002795	Abnormal respiratory system physiology	23345	SYNE1	OMIM:618484
HP:0002795	Abnormal respiratory system physiology	6445	SGCG	OMIM:253700
HP:0002795	Abnormal respiratory system physiology	80324	PUS1	OMIM:600462
HP:0002795	Abnormal respiratory system physiology	2720	GLB1	OMIM:253010
HP:0002795	Abnormal respiratory system physiology	23495	TNFRSF13B	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	115650	TNFRSF13C	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	1380	CR2	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	8742	TNFSF12	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	5580	PRKCD	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	930	CD19	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	29851	ICOS	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	931	MS4A1	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	975	CD81	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	374393	FAM111B	OMIM:615704
HP:0002795	Abnormal respiratory system physiology	10755	GIPC1	ORPHA:98897
HP:0002795	Abnormal respiratory system physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0002795	Abnormal respiratory system physiology	2588	GALNS	OMIM:253000
HP:0002795	Abnormal respiratory system physiology	1861	TOR1A	OMIM:618947
HP:0002795	Abnormal respiratory system physiology	3257	HPS1	OMIM:203300
HP:0002795	Abnormal respiratory system physiology	89781	HPS4	OMIM:614073
HP:0002795	Abnormal respiratory system physiology	6117	RPA1	OMIM:619767
HP:0002795	Abnormal respiratory system physiology	54332	GDAP1	ORPHA:99948
HP:0002795	Abnormal respiratory system physiology	9990	SLC12A6	OMIM:218000
HP:0002795	Abnormal respiratory system physiology	4352	MPL	ORPHA:71493
HP:0002795	Abnormal respiratory system physiology	7066	THPO	ORPHA:71493
HP:0002795	Abnormal respiratory system physiology	4558	MT-TF	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4572	MT-TQ	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4512	MT-CO1	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4513	MT-CO2	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4514	MT-CO3	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4575	MT-TS2	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4564	MT-TH	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	7428	VHL	OMIM:263400
HP:0002795	Abnormal respiratory system physiology	79717	PPCS	OMIM:618189
HP:0002795	Abnormal respiratory system physiology	776	CACNA1D	OMIM:615474
HP:0002795	Abnormal respiratory system physiology	776	CACNA1D	ORPHA:369929
HP:0002795	Abnormal respiratory system physiology	498	ATP5F1A	OMIM:616045
HP:0002795	Abnormal respiratory system physiology	81857	MED25	OMIM:616449
HP:0002795	Abnormal respiratory system physiology	81857	MED25	ORPHA:464738
HP:0002795	Abnormal respiratory system physiology	3875	KRT18	OMIM:215600
HP:0002795	Abnormal respiratory system physiology	8854	ALDH1A2	OMIM:620025
HP:0002795	Abnormal respiratory system physiology	1277	COL1A1	OMIM:259420
HP:0002795	Abnormal respiratory system physiology	79932	KIAA0319L	ORPHA:220402
HP:0002795	Abnormal respiratory system physiology	411	ARSB	OMIM:253200
HP:0002795	Abnormal respiratory system physiology	10312	TCIRG1	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	1186	CLCN7	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	29887	SNX10	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	8600	TNFSF11	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	55315	SLC29A3	OMIM:602782
HP:0002795	Abnormal respiratory system physiology	23395	LARS2	OMIM:617021
HP:0002795	Abnormal respiratory system physiology	51601	LIPT1	OMIM:616299
HP:0002795	Abnormal respiratory system physiology	9382	COG1	ORPHA:263508
HP:0002795	Abnormal respiratory system physiology	1340	COX6B1	OMIM:619051
HP:0002795	Abnormal respiratory system physiology	1351	COX8A	OMIM:619059
HP:0002795	Abnormal respiratory system physiology	50619	DEF6	OMIM:619573
HP:0002795	Abnormal respiratory system physiology	8260	NAA10	OMIM:300855
HP:0002795	Abnormal respiratory system physiology	9469	CHST3	OMIM:143095
HP:0002795	Abnormal respiratory system physiology	9968	MED12	ORPHA:93932
HP:0002795	Abnormal respiratory system physiology	92579	G6PC3	OMIM:612541
HP:0002795	Abnormal respiratory system physiology	3845	KRAS	ORPHA:2396
HP:0002795	Abnormal respiratory system physiology	55750	AGK	OMIM:212350
HP:0002795	Abnormal respiratory system physiology	9377	COX5A	OMIM:619064
HP:0002795	Abnormal respiratory system physiology	55697	VAC14	ORPHA:3472
HP:0002795	Abnormal respiratory system physiology	3425	IDUA	OMIM:607015
HP:0002795	Abnormal respiratory system physiology	4763	NF1	ORPHA:97685
HP:0002795	Abnormal respiratory system physiology	760	CA2	ORPHA:2785
HP:0002795	Abnormal respiratory system physiology	10043	TOM1	ORPHA:391487
HP:0002795	Abnormal respiratory system physiology	10664	CTCF	ORPHA:363611
HP:0002795	Abnormal respiratory system physiology	29957	SLC25A24	OMIM:612289
HP:0002795	Abnormal respiratory system physiology	57514	ARHGAP31	OMIM:100300
HP:0002795	Abnormal respiratory system physiology	57514	ARHGAP31	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	8085	KMT2D	OMIM:620186
HP:0002795	Abnormal respiratory system physiology	8517	IKBKG	ORPHA:464
HP:0002795	Abnormal respiratory system physiology	23556	PIGN	ORPHA:280633
HP:0002795	Abnormal respiratory system physiology	4716	NDUFB10	OMIM:619003
HP:0002795	Abnormal respiratory system physiology	27086	FOXP1	ORPHA:391372
HP:0002795	Abnormal respiratory system physiology	4256	MGP	ORPHA:85202
HP:0002795	Abnormal respiratory system physiology	3516	RBPJ	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	4851	NOTCH1	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	4851	NOTCH1	OMIM:616028
HP:0002795	Abnormal respiratory system physiology	57572	DOCK6	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	285203	EOGT	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	54567	DLL4	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	2658	GDF2	ORPHA:774
HP:0002795	Abnormal respiratory system physiology	6123	RPL3L	OMIM:619371
HP:0002795	Abnormal respiratory system physiology	55901	THSD1	OMIM:620244
HP:0002795	Abnormal respiratory system physiology	3339	HSPG2	ORPHA:800
HP:0002795	Abnormal respiratory system physiology	2542	SLC37A4	OMIM:232240
HP:0002795	Abnormal respiratory system physiology	8295	TRRAP	OMIM:618454
HP:0002795	Abnormal respiratory system physiology	4093	SMAD9	OMIM:615342
HP:0002795	Abnormal respiratory system physiology	3777	KCNK3	OMIM:615344
HP:0002795	Abnormal respiratory system physiology	23590	PDSS1	OMIM:614651
HP:0002795	Abnormal respiratory system physiology	7319	UBE2A	ORPHA:163956
HP:0002795	Abnormal respiratory system physiology	389827	MYMK	OMIM:254940
HP:0002795	Abnormal respiratory system physiology	950	SCARB2	ORPHA:77259
HP:0002795	Abnormal respiratory system physiology	51103	NDUFAF1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	51300	TIMMDC1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4723	NDUFV1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	55572	FOXRED1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	55572	FOXRED1	OMIM:618241
HP:0002795	Abnormal respiratory system physiology	284184	NDUFAF8	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4729	NDUFV2	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4694	NDUFA1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4728	NDUFS8	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4728	NDUFS8	OMIM:618222
HP:0002795	Abnormal respiratory system physiology	4722	NDUFS3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4722	NDUFS3	OMIM:618230
HP:0002795	Abnormal respiratory system physiology	79133	NDUFAF5	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	126328	NDUFA11	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4709	NDUFB3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	80224	NUBPL	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	29078	NDUFAF4	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	374291	NDUFS7	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	374291	NDUFS7	OMIM:618224
HP:0002795	Abnormal respiratory system physiology	4700	NDUFA6	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4700	NDUFA6	OMIM:618253
HP:0002795	Abnormal respiratory system physiology	4719	NDUFS1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4719	NDUFS1	OMIM:618226
HP:0002795	Abnormal respiratory system physiology	4715	NDUFB9	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	10046	MAMLD1	ORPHA:456328
HP:0002795	Abnormal respiratory system physiology	51569	UFM1	OMIM:617899
HP:0002795	Abnormal respiratory system physiology	80308	FLAD1	OMIM:255100
HP:0002795	Abnormal respiratory system physiology	1593	CYP27A1	OMIM:213700
HP:0002795	Abnormal respiratory system physiology	3766	KCNJ10	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	2299	FOXI1	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	5172	SLC26A4	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	51	ACOX1	ORPHA:2971
HP:0002795	Abnormal respiratory system physiology	64220	STRA6	OMIM:601186
HP:0002795	Abnormal respiratory system physiology	79581	SLC52A2	OMIM:614707
HP:0002795	Abnormal respiratory system physiology	57176	VARS2	OMIM:615917
HP:0002795	Abnormal respiratory system physiology	2317	FLNB	ORPHA:56305
HP:0002795	Abnormal respiratory system physiology	2317	FLNB	ORPHA:503
HP:0002795	Abnormal respiratory system physiology	1373	CPS1	ORPHA:147
HP:0002795	Abnormal respiratory system physiology	183	AGT	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	5972	REN	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	185	AGTR1	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	1636	ACE	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	2617	GARS1	OMIM:619042
HP:0002795	Abnormal respiratory system physiology	55112	DYNC2I1	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	55112	DYNC2I1	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57560	IFT80	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	57560	IFT80	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57539	WDR35	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	79659	DYNC2H1	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	79659	DYNC2H1	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	OMIM:615633
HP:0002795	Abnormal respiratory system physiology	387787	LIPT2	OMIM:617668
HP:0002795	Abnormal respiratory system physiology	1785	DNM2	OMIM:615368
HP:0002795	Abnormal respiratory system physiology	55636	CHD7	ORPHA:138
HP:0002795	Abnormal respiratory system physiology	9723	SEMA3E	ORPHA:138
HP:0002795	Abnormal respiratory system physiology	1185	CLCN6	OMIM:619173
HP:0002795	Abnormal respiratory system physiology	6023	RMRP	ORPHA:175
HP:0002795	Abnormal respiratory system physiology	23321	TRIM2	OMIM:615490
HP:0002795	Abnormal respiratory system physiology	6773	STAT2	OMIM:618886
HP:0002795	Abnormal respiratory system physiology	55109	AGGF1	ORPHA:90308
HP:0002795	Abnormal respiratory system physiology	5191	PEX7	OMIM:215100
HP:0002795	Abnormal respiratory system physiology	5191	PEX7	ORPHA:773
HP:0002795	Abnormal respiratory system physiology	1281	COL3A1	ORPHA:286
HP:0002795	Abnormal respiratory system physiology	246243	RNASEH1	OMIM:616479
HP:0002795	Abnormal respiratory system physiology	1302	COL11A2	ORPHA:2021
HP:0002795	Abnormal respiratory system physiology	9742	IFT140	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57728	WDR19	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	79809	TTC21B	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	9056	SLC7A7	ORPHA:470
HP:0002795	Abnormal respiratory system physiology	9056	SLC7A7	OMIM:222700
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	OMIM:600972
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	ORPHA:628
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	OMIM:256050
HP:0002795	Abnormal respiratory system physiology	9453	GGPS1	OMIM:619518
HP:0002795	Abnormal respiratory system physiology	9508	ADAMTS3	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	147372	CCBE1	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	79633	FAT4	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	10290	SPEG	OMIM:615959
HP:0002795	Abnormal respiratory system physiology	10290	SPEG	ORPHA:169186
HP:0002795	Abnormal respiratory system physiology	493856	CISD2	ORPHA:3463
HP:0002795	Abnormal respiratory system physiology	7466	WFS1	ORPHA:3463
HP:0002795	Abnormal respiratory system physiology	7466	WFS1	ORPHA:411590
HP:0002795	Abnormal respiratory system physiology	11231	SEC63	ORPHA:2924
HP:0002795	Abnormal respiratory system physiology	4041	LRP5	ORPHA:2924
HP:0002795	Abnormal respiratory system physiology	23396	PIP5K1C	OMIM:611369
HP:0002795	Abnormal respiratory system physiology	26154	ABCA12	ORPHA:457
HP:0002795	Abnormal respiratory system physiology	197258	FCSK	OMIM:618324
HP:0002795	Abnormal respiratory system physiology	259232	NALCN	OMIM:616266
HP:0002795	Abnormal respiratory system physiology	56983	POGLUT1	OMIM:617232
HP:0002795	Abnormal respiratory system physiology	4052	LTBP1	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	30008	EFEMP2	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	10516	FBLN5	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	10262	SF3B4	ORPHA:245
HP:0002795	Abnormal respiratory system physiology	4615	MYD88	ORPHA:33226
HP:0002795	Abnormal respiratory system physiology	51117	COQ4	OMIM:616276
HP:0002795	Abnormal respiratory system physiology	57017	COQ9	OMIM:614654
HP:0002795	Abnormal respiratory system physiology	10801	SEPTIN9	ORPHA:2901
HP:0002795	Abnormal respiratory system physiology	58497	PRUNE1	ORPHA:544469
HP:0002795	Abnormal respiratory system physiology	5081	PAX7	OMIM:618578
HP:0002795	Abnormal respiratory system physiology	55670	PEX26	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5824	PEX19	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5828	PEX2	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	8504	PEX3	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	8799	PEX11B	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	9409	PEX16	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5189	PEX1	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5193	PEX12	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5194	PEX13	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5195	PEX14	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5192	PEX10	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	2737	GLI3	ORPHA:672
HP:0002795	Abnormal respiratory system physiology	274	BIN1	ORPHA:169186
HP:0002795	Abnormal respiratory system physiology	91949	COG7	OMIM:608779
HP:0002795	Abnormal respiratory system physiology	5351	PLOD1	OMIM:225400
HP:0002795	Abnormal respiratory system physiology	2879	GPX4	ORPHA:93317
HP:0002795	Abnormal respiratory system physiology	1798	DPAGT1	OMIM:608093
HP:0002795	Abnormal respiratory system physiology	203547	VMA21	OMIM:310440
HP:0002795	Abnormal respiratory system physiology	1908	EDN3	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	2668	GDNF	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	627	BDNF	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	7707	ZNF148	OMIM:617260
HP:0002795	Abnormal respiratory system physiology	26275	HIBCH	ORPHA:88639
HP:0002795	Abnormal respiratory system physiology	23114	NFASC	OMIM:618356
HP:0002795	Abnormal respiratory system physiology	91869	RFT1	OMIM:612015
HP:0002795	Abnormal respiratory system physiology	1959	EGR2	OMIM:605253
HP:0002795	Abnormal respiratory system physiology	3930	LBR	ORPHA:779
HP:0002795	Abnormal respiratory system physiology	4952	OCRL	ORPHA:534
HP:0002795	Abnormal respiratory system physiology	4704	NDUFA9	OMIM:618247
HP:0002795	Abnormal respiratory system physiology	4705	NDUFA10	OMIM:618243
HP:0002795	Abnormal respiratory system physiology	11274	USP18	OMIM:617397
HP:0002795	Abnormal respiratory system physiology	134701	RIPPLY2	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	10683	DLL3	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	3955	LFNG	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	84667	HES7	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	145873	MESP2	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	63931	MRPS14	OMIM:618378
HP:0002795	Abnormal respiratory system physiology	9531	BAG3	OMIM:612954
HP:0002795	Abnormal respiratory system physiology	7138	TNNT1	OMIM:605355
HP:0002795	Abnormal respiratory system physiology	8425	LTBP4	ORPHA:98896
HP:0002795	Abnormal respiratory system physiology	59336	PRDM13	OMIM:619909
HP:0002795	Abnormal respiratory system physiology	4927	NUP88	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	7846	TUBA1A	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	4654	MYOD1	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	4654	MYOD1	OMIM:618975
HP:0002795	Abnormal respiratory system physiology	11212	PLPBP	OMIM:617290
HP:0002795	Abnormal respiratory system physiology	11019	LIAS	OMIM:614462
HP:0002795	Abnormal respiratory system physiology	2218	FKTN	OMIM:253800
HP:0002795	Abnormal respiratory system physiology	5352	PLOD2	ORPHA:2771
HP:0002795	Abnormal respiratory system physiology	60681	FKBP10	ORPHA:2771
HP:0002795	Abnormal respiratory system physiology	29926	GMPPA	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	60684	TRAPPC11	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	8086	AAAS	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	246329	STAC3	ORPHA:168572
HP:0002795	Abnormal respiratory system physiology	84172	POLR1B	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	9533	POLR1C	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	51082	POLR1D	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	6949	TCOF1	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	3636	INPPL1	OMIM:258480
HP:0002795	Abnormal respiratory system physiology	3636	INPPL1	ORPHA:2746
HP:0002795	Abnormal respiratory system physiology	9373	PLAA	ORPHA:521426
HP:0002795	Abnormal respiratory system physiology	9373	PLAA	OMIM:617527
HP:0002795	Abnormal respiratory system physiology	4604	MYBPC1	OMIM:614915
HP:0002795	Abnormal respiratory system physiology	5264	PHYH	ORPHA:773
HP:0002795	Abnormal respiratory system physiology	210	ALAD	ORPHA:100924
HP:0002795	Abnormal respiratory system physiology	4938	OAS1	OMIM:618042
HP:0002795	Abnormal respiratory system physiology	440	ASNS	OMIM:615574
HP:0002795	Abnormal respiratory system physiology	23529	CLCF1	ORPHA:1545
HP:0002795	Abnormal respiratory system physiology	54936	ADPRS	OMIM:618170
HP:0002795	Abnormal respiratory system physiology	56922	MCCC1	ORPHA:6
HP:0002795	Abnormal respiratory system physiology	64087	MCCC2	ORPHA:6
HP:0002795	Abnormal respiratory system physiology	80704	SLC19A3	ORPHA:263410
HP:0002795	Abnormal respiratory system physiology	5087	PBX1	OMIM:617641
HP:0002795	Abnormal respiratory system physiology	51763	INPP5K	OMIM:617404
HP:0002795	Abnormal respiratory system physiology	10535	RNASEH2A	OMIM:610333
HP:0002795	Abnormal respiratory system physiology	1371	CPOX	ORPHA:79273
HP:0002795	Abnormal respiratory system physiology	23224	SYNE2	OMIM:612999
HP:0002795	Abnormal respiratory system physiology	3145	HMBS	ORPHA:79276
HP:0002795	Abnormal respiratory system physiology	6786	STIM1	OMIM:160565
HP:0002795	Abnormal respiratory system physiology	51343	FZR1	OMIM:620145
HP:0002795	Abnormal respiratory system physiology	1278	COL1A2	ORPHA:230851
HP:0002795	Abnormal respiratory system physiology	1824	DSC2	OMIM:610476
HP:0002795	Abnormal respiratory system physiology	57158	JPH2	OMIM:613873
HP:0002795	Abnormal respiratory system physiology	54790	TET2	ORPHA:98826
HP:0002795	Abnormal respiratory system physiology	112476	PRRT2	ORPHA:98810
HP:0002795	Abnormal respiratory system physiology	25953	PNKD	ORPHA:98810
HP:0002795	Abnormal respiratory system physiology	1621	DBH	ORPHA:230
HP:0002795	Abnormal respiratory system physiology	3043	HBB	ORPHA:231214
HP:0002795	Abnormal respiratory system physiology	3043	HBB	ORPHA:231226
HP:0002795	Abnormal respiratory system physiology	51604	PIGT	OMIM:615399
HP:0002795	Abnormal respiratory system physiology	7139	TNNT2	OMIM:115195
HP:0002795	Abnormal respiratory system physiology	7139	TNNT2	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	23137	SMC5	OMIM:620185
HP:0002795	Abnormal respiratory system physiology	3815	KIT	ORPHA:79455
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:79443
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:79444
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:94089
HP:0002795	Abnormal respiratory system physiology	23479	ISCU	OMIM:255125
HP:0002795	Abnormal respiratory system physiology	4878	NPPA	OMIM:615745
HP:0002795	Abnormal respiratory system physiology	4878	NPPA	ORPHA:1344
HP:0002795	Abnormal respiratory system physiology	94	ACVRL1	OMIM:600376
HP:0002795	Abnormal respiratory system physiology	6775	STAT4	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	6696	SPP1	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	3654	IRAK1	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	8675	STX16	ORPHA:94089
HP:0002795	Abnormal respiratory system physiology	170302	ARX	OMIM:308350
HP:0002795	Abnormal respiratory system physiology	10049	DNAJB6	OMIM:603511
HP:0002795	Abnormal respiratory system physiology	57104	PNPLA2	ORPHA:565612
HP:0002795	Abnormal respiratory system physiology	3949	LDLR	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	255738	PCSK9	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	26119	LDLRAP1	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	338	APOB	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	64240	ABCG5	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	64241	ABCG8	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	ORPHA:1344
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	OMIM:113900
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	5318	PKP2	OMIM:609040
HP:0002795	Abnormal respiratory system physiology	212	ALAS2	ORPHA:75563
HP:0002795	Abnormal respiratory system physiology	55863	TMEM126B	OMIM:618250
HP:0002795	Abnormal respiratory system physiology	112812	FDX2	OMIM:251900
HP:0002795	Abnormal respiratory system physiology	9496	TBX4	ORPHA:261279
HP:0002795	Abnormal respiratory system physiology	546	ATRX	ORPHA:231401
HP:0002795	Abnormal respiratory system physiology	54795	TRPM4	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	6324	SCN1B	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	11222	MRPL3	OMIM:614582
HP:0002795	Abnormal respiratory system physiology	2318	FLNC	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	7137	TNNI3	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	10112	KIF20A	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	5589	PRKCSH	OMIM:174050
HP:0002795	Abnormal respiratory system physiology	54800	KLHL24	OMIM:620236
HP:0002795	Abnormal respiratory system physiology	50485	SMARCAL1	OMIM:242900
HP:0002795	Abnormal respiratory system physiology	8815	BANF1	OMIM:614008
HP:0002795	Abnormal respiratory system physiology	5236	PGM1	OMIM:614921
HP:0002795	Abnormal respiratory system physiology	51778	MYOZ2	OMIM:613838
HP:0002795	Abnormal respiratory system physiology	857	CAV1	OMIM:615343
HP:0002795	Abnormal respiratory system physiology	857	CAV1	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1235	CCR6	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1490	CCN2	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	3663	IRF5	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1829	DSG2	OMIM:612877
HP:0002795	Abnormal respiratory system physiology	9131	AIFM1	ORPHA:238329
HP:0002795	Abnormal respiratory system physiology	4702	NDUFA8	OMIM:619272
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	ORPHA:289916
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	ORPHA:79312
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	OMIM:251000
HP:0002795	Abnormal respiratory system physiology	23394	ADNP	ORPHA:404448
HP:0002795	Abnormal respiratory system physiology	55503	TRPV6	OMIM:618188
HP:0002795	Abnormal respiratory system physiology	201595	STT3B	OMIM:615597
HP:0002795	Abnormal respiratory system physiology	201595	STT3B	ORPHA:370924
HP:0002795	Abnormal respiratory system physiology	10559	SLC35A1	ORPHA:238459
HP:0002795	Abnormal respiratory system physiology	2050	EPHB4	OMIM:617300
HP:0002795	Abnormal respiratory system physiology	4137	MAPT	ORPHA:240085
HP:0002795	Abnormal respiratory system physiology	4137	MAPT	ORPHA:240103
HP:0002795	Abnormal respiratory system physiology	1896	EDA	OMIM:305100
HP:0002795	Abnormal respiratory system physiology	150094	SIK1	OMIM:616341
HP:0002795	Abnormal respiratory system physiology	29967	LRP12	OMIM:164310
HP:0002795	Abnormal respiratory system physiology	79087	ALG12	OMIM:607143
HP:0002795	Abnormal respiratory system physiology	860	RUNX2	OMIM:119600
HP:0002795	Abnormal respiratory system physiology	23414	ZFPM2	ORPHA:2140
HP:0002795	Abnormal respiratory system physiology	9361	LONP1	ORPHA:2140
HP:0002795	Abnormal respiratory system physiology	6389	SDHA	OMIM:613642
HP:0002795	Abnormal respiratory system physiology	6234	RPS28	OMIM:606164
HP:0002795	Abnormal respiratory system physiology	4534	MTM1	ORPHA:596
HP:0002795	Abnormal respiratory system physiology	3572	IL6ST	OMIM:619751
HP:0002795	Abnormal respiratory system physiology	55768	NGLY1	OMIM:615273
HP:0002795	Abnormal respiratory system physiology	4607	MYBPC3	OMIM:115197
HP:0002795	Abnormal respiratory system physiology	51660	MPC1	OMIM:614741
HP:0002795	Abnormal respiratory system physiology	8239	USP9X	ORPHA:480880
HP:0002795	Abnormal respiratory system physiology	8239	USP9X	OMIM:300968
HP:0002795	Abnormal respiratory system physiology	8021	NUP214	OMIM:618426
HP:0002795	Abnormal respiratory system physiology	773	CACNA1A	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	6507	SLC1A3	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	477	ATP1A2	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	478	ATP1A3	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	3675	ITGA3	OMIM:614748
HP:0002795	Abnormal respiratory system physiology	166785	MMAA	OMIM:251100
HP:0002795	Abnormal respiratory system physiology	4247	MGAT2	ORPHA:79329
HP:0002795	Abnormal respiratory system physiology	8818	DPM2	OMIM:615042
HP:0002795	Abnormal respiratory system physiology	8818	DPM2	ORPHA:329178
HP:0002795	Abnormal respiratory system physiology	9321	TRIP11	OMIM:184260
HP:0002795	Abnormal respiratory system physiology	9321	TRIP11	ORPHA:166272
HP:0002795	Abnormal respiratory system physiology	51098	IFT52	OMIM:617102
HP:0002795	Abnormal respiratory system physiology	6231	RPS26	OMIM:613309
HP:0002795	Abnormal respiratory system physiology	5373	PMM2	ORPHA:79318
HP:0002795	Abnormal respiratory system physiology	8813	DPM1	OMIM:608799
HP:0002795	Abnormal respiratory system physiology	22906	TRAK1	OMIM:618201
HP:0002795	Abnormal respiratory system physiology	9147	NEMF	OMIM:619099
HP:0002795	Abnormal respiratory system physiology	3977	LIFR	ORPHA:3206
HP:0002795	Abnormal respiratory system physiology	50943	FOXP3	ORPHA:37042
HP:0002795	Abnormal respiratory system physiology	7994	KAT6A	OMIM:616268
HP:0002795	Abnormal respiratory system physiology	7317	UBA1	ORPHA:1145
HP:0002795	Abnormal respiratory system physiology	162417	NAGS	ORPHA:927
HP:0002795	Abnormal respiratory system physiology	162417	NAGS	OMIM:237310
HP:0002795	Abnormal respiratory system physiology	55681	SCYL2	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	84570	COL25A1	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	57222	ERGIC1	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	4556	MT-TE	ORPHA:2596
HP:0002795	Abnormal respiratory system physiology	4556	MT-TE	ORPHA:254864
HP:0002795	Abnormal respiratory system physiology	51067	YARS2	OMIM:613561
HP:0002795	Abnormal respiratory system physiology	1188	CLCNKB	ORPHA:358
HP:0002795	Abnormal respiratory system physiology	6559	SLC12A3	ORPHA:358
HP:0002795	Abnormal respiratory system physiology	51422	PRKAG2	OMIM:261740
HP:0002795	Abnormal respiratory system physiology	10806	SDCCAG8	OMIM:615993
HP:0002795	Abnormal respiratory system physiology	5396	PRRX1	OMIM:202650
HP:0002795	Abnormal respiratory system physiology	5396	PRRX1	ORPHA:990
HP:0002795	Abnormal respiratory system physiology	5250	SLC25A3	ORPHA:91130
HP:0002795	Abnormal respiratory system physiology	112	ADCY6	ORPHA:2680
HP:0002795	Abnormal respiratory system physiology	163175	LGI4	ORPHA:2680
HP:0002795	Abnormal respiratory system physiology	5649	RELN	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	10300	KATNB1	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	54820	NDE1	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	51119	SBDS	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	134218	DNAJC21	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	6729	SRP54	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	10229	COQ7	OMIM:616733
HP:0002795	Abnormal respiratory system physiology	54931	TRMT10C	OMIM:616974
HP:0002795	Abnormal respiratory system physiology	27185	DISC1	ORPHA:171703
HP:0002795	Abnormal respiratory system physiology	8320	EOMES	ORPHA:171703
HP:0002795	Abnormal respiratory system physiology	11093	ADAMTS13	OMIM:274150
HP:0002795	Abnormal respiratory system physiology	3736	KCNA1	ORPHA:37612
HP:0002795	Abnormal respiratory system physiology	710	SERPING1	ORPHA:100050
HP:0002795	Abnormal respiratory system physiology	1760	DMPK	OMIM:160900
HP:0002795	Abnormal respiratory system physiology	3417	IDH1	ORPHA:99646
HP:0002795	Abnormal respiratory system physiology	7547	ZIC3	OMIM:306955
HP:0002795	Abnormal respiratory system physiology	7019	TFAM	OMIM:617156
HP:0002795	Abnormal respiratory system physiology	4358	MPV17	OMIM:256810
HP:0002795	Abnormal respiratory system physiology	22827	PUF60	ORPHA:508488
HP:0002795	Abnormal respiratory system physiology	55687	TRMU	ORPHA:254864
HP:0002795	Abnormal respiratory system physiology	6638	SNRPN	ORPHA:177907
HP:0002795	Abnormal respiratory system physiology	3868	KRT16	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3872	KRT17	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3853	KRT6A	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3854	KRT6B	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	9343	EFTUD2	OMIM:610536
HP:0002795	Abnormal respiratory system physiology	26040	SETBP1	ORPHA:798
HP:0002795	Abnormal respiratory system physiology	326625	MMAB	OMIM:251110
HP:0002795	Abnormal respiratory system physiology	5015	OTX2	ORPHA:990
HP:0002795	Abnormal respiratory system physiology	55975	KLHL7	OMIM:617055
HP:0002795	Abnormal respiratory system physiology	5167	ENPP1	ORPHA:51608
HP:0002795	Abnormal respiratory system physiology	1387	CREBBP	OMIM:180849
HP:0002795	Abnormal respiratory system physiology	2033	EP300	OMIM:180849
HP:0002795	Abnormal respiratory system physiology	10382	TUBB4A	ORPHA:98805
HP:0002795	Abnormal respiratory system physiology	56270	WDR45B	OMIM:617977
HP:0002795	Abnormal respiratory system physiology	526	ATP6V1B2	ORPHA:79500
HP:0002795	Abnormal respiratory system physiology	57465	TBC1D24	ORPHA:79500
HP:0002795	Abnormal respiratory system physiology	2077	ERF	OMIM:617180
HP:0002795	Abnormal respiratory system physiology	3557	IL1RN	OMIM:612852
HP:0002795	Abnormal respiratory system physiology	126792	B3GALT6	ORPHA:536467
HP:0002795	Abnormal respiratory system physiology	6748	SSR4	OMIM:300934
HP:0002795	Abnormal respiratory system physiology	168667	BMPER	ORPHA:66637
HP:0002795	Abnormal respiratory system physiology	168667	BMPER	OMIM:608022
HP:0002795	Abnormal respiratory system physiology	25974	MMACHC	ORPHA:79282
HP:0002795	Abnormal respiratory system physiology	129285	PPP1R21	OMIM:619383
HP:0002795	Abnormal respiratory system physiology	2294	FOXF1	ORPHA:210122
HP:0002795	Abnormal respiratory system physiology	51626	DYNC2LI1	OMIM:617088
HP:0002795	Abnormal respiratory system physiology	35	ACADS	ORPHA:26792
HP:0002795	Abnormal respiratory system physiology	8449	DHX16	OMIM:618733
HP:0002795	Abnormal respiratory system physiology	11342	RNF13	ORPHA:544503
HP:0002795	Abnormal respiratory system physiology	871	SERPINH1	OMIM:613848
HP:0002795	Abnormal respiratory system physiology	2108	ETFA	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	2109	ETFB	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	2110	ETFDH	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	65055	REEP1	OMIM:620011
HP:0002795	Abnormal respiratory system physiology	6584	SLC22A5	OMIM:212140
HP:0002795	Abnormal respiratory system physiology	2811	GP1BA	ORPHA:274
HP:0002795	Abnormal respiratory system physiology	2815	GP9	ORPHA:274
HP:0002795	Abnormal respiratory system physiology	91754	NEK9	OMIM:614262
HP:0002795	Abnormal respiratory system physiology	5238	PGM3	ORPHA:443811
HP:0002795	Abnormal respiratory system physiology	5238	PGM3	OMIM:615816
HP:0002795	Abnormal respiratory system physiology	987	LRBA	OMIM:614700
HP:0002795	Abnormal respiratory system physiology	3981	LIG4	OMIM:606593
HP:0002795	Abnormal respiratory system physiology	3981	LIG4	ORPHA:235
HP:0002795	Abnormal respiratory system physiology	10999	SLC27A4	OMIM:608649
HP:0002795	Abnormal respiratory system physiology	27125	AFF4	ORPHA:444077
HP:0002795	Abnormal respiratory system physiology	9578	CDC42BPB	OMIM:619841
HP:0002795	Abnormal respiratory system physiology	4010	LMX1B	ORPHA:495818
HP:0002795	Abnormal respiratory system physiology	6812	STXBP1	ORPHA:495818
HP:0002795	Abnormal respiratory system physiology	5184	PEPD	OMIM:170100
HP:0002795	Abnormal respiratory system physiology	841	CASP8	OMIM:607271
HP:0002795	Abnormal respiratory system physiology	4953	ODC1	ORPHA:544488
HP:0002795	Abnormal respiratory system physiology	3716	JAK1	OMIM:618999
HP:0002795	Abnormal respiratory system physiology	57589	RIC1	OMIM:618761
HP:0002795	Abnormal respiratory system physiology	50615	IL21R	OMIM:147050
HP:0002795	Abnormal respiratory system physiology	3566	IL4R	OMIM:147050
HP:0002795	Abnormal respiratory system physiology	2206	MS4A2	OMIM:147050
HP:0002795	Abnormal respiratory system physiology	84100	ARL6	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	79140	CCDC28B	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	582	BBS1	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	2068	ERCC2	OMIM:601675
HP:0002795	Abnormal respiratory system physiology	64919	BCL11B	OMIM:618092
HP:0002795	Abnormal respiratory system physiology	51428	DDX41	OMIM:616871
HP:0002795	Abnormal respiratory system physiology	64127	NOD2	OMIM:617321
HP:0002795	Abnormal respiratory system physiology	2475	MTOR	ORPHA:457485
HP:0002795	Abnormal respiratory system physiology	93627	TBCK	ORPHA:488632
HP:0002795	Abnormal respiratory system physiology	2783	GNB2	OMIM:619503
HP:0002795	Abnormal respiratory system physiology	6785	ELOVL4	OMIM:614457
HP:0002795	Abnormal respiratory system physiology	84701	COX4I2	OMIM:612714
HP:0002795	Abnormal respiratory system physiology	54888	NSUN2	ORPHA:235
HP:0002795	Abnormal respiratory system physiology	26160	IFT172	OMIM:619471
HP:0002795	Abnormal respiratory system physiology	30009	TBX21	OMIM:619630
HP:0002795	Abnormal respiratory system physiology	30009	TBX21	OMIM:208550
HP:0002795	Abnormal respiratory system physiology	7874	USP7	ORPHA:500055
HP:0002795	Abnormal respiratory system physiology	29775	CARD10	OMIM:619632
HP:0002795	Abnormal respiratory system physiology	10526	IPO8	OMIM:619472
HP:0002795	Abnormal respiratory system physiology	5732	PTGER2	OMIM:208550
HP:0002795	Abnormal respiratory system physiology	5336	PLCG2	OMIM:614468
HP:0002795	Abnormal respiratory system physiology	2312	FLG	OMIM:146700
HP:0002795	Abnormal respiratory system physiology	1041	CDSN	OMIM:270300
HP:0002795	Abnormal respiratory system physiology	79796	ALG9	ORPHA:79328
HP:0002795	Abnormal respiratory system physiology	6804	STX1A	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	2947	GSTM3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	2729	GCLC	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	1084	CEACAM3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	51164	DCTN4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	3783	KCNN4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	4282	MIF	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	1909	EDNRA	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	6550	SLC9A3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	115019	SLC26A9	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	3077	HFE	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	11254	SLC6A14	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	22802	CLCA4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	4680	CEACAM6	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	374879	ZNF699	OMIM:619488
HP:0002795	Abnormal respiratory system physiology	10293	TRAIP	OMIM:616777
HP:0002795	Abnormal respiratory system physiology	3481	IGF2	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	1028	CDKN1C	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	5324	PLAG1	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	8091	HMGA2	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	11005	SPINK5	OMIM:256500
HP:0002795	Abnormal respiratory system physiology	11005	SPINK5	ORPHA:634
HP:0002795	Abnormal respiratory system physiology	55717	WDR11	OMIM:620237
HP:0002795	Abnormal respiratory system physiology	6392	SDHD	ORPHA:100093
HP:0002795	Abnormal respiratory system physiology	23387	SIK3	OMIM:618162
HP:0002795	Abnormal respiratory system physiology	55898	UNC45A	OMIM:619377
HP:0002795	Abnormal respiratory system physiology	79989	IFT56	OMIM:619534
HP:0002795	Abnormal respiratory system physiology	4791	NFKB2	OMIM:615577
HP:0002795	Abnormal respiratory system physiology	79977	GRHL2	OMIM:616029
HP:0002795	Abnormal respiratory system physiology	100	ADA	OMIM:102700
HP:0002795	Abnormal respiratory system physiology	2678	GGT1	OMIM:231950
HP:0002795	Abnormal respiratory system physiology	738	VPS51	OMIM:618606
HP:0002795	Abnormal respiratory system physiology	84433	CARD11	OMIM:617638
HP:0002795	Abnormal respiratory system physiology	3514	IGKC	ORPHA:183675
HP:0002795	Abnormal respiratory system physiology	3501	IGHG2	ORPHA:183675
HP:0002795	Abnormal respiratory system physiology	81704	DOCK8	OMIM:243700
HP:0002795	Abnormal respiratory system physiology	81704	DOCK8	ORPHA:217390
HP:0002795	Abnormal respiratory system physiology	375056	MIA3	OMIM:619269
HP:0002795	Abnormal respiratory system physiology	721	C4B	OMIM:614379
HP:0002795	Abnormal respiratory system physiology	5830	PEX5	OMIM:616716
HP:0002795	Abnormal respiratory system physiology	4524	MTHFR	ORPHA:395
HP:0002795	Abnormal respiratory system physiology	9759	HDAC4	OMIM:619797
HP:0002795	Abnormal respiratory system physiology	95	ACY1	ORPHA:137754
HP:0002795	Abnormal respiratory system physiology	53616	ADAM22	OMIM:617933
HP:0002795	Abnormal respiratory system physiology	6334	SCN8A	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	6326	SCN2A	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	6326	SCN2A	OMIM:607745
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:1949
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:439218
HP:0002795	Abnormal respiratory system physiology	3786	KCNQ3	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	3786	KCNQ3	ORPHA:1949
HP:0002795	Abnormal respiratory system physiology	256297	PTF1A	OMIM:609069
HP:0002795	Abnormal respiratory system physiology	6341	SCO1	OMIM:619048
HP:0002795	Abnormal respiratory system physiology	249	ALPL	OMIM:241500
HP:0002795	Abnormal respiratory system physiology	4695	NDUFA2	OMIM:618235
HP:0002795	Abnormal respiratory system physiology	4695	NDUFA2	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	29968	PSAT1	OMIM:610992
HP:0002795	Abnormal respiratory system physiology	5105	PCK1	OMIM:261680
HP:0002795	Abnormal respiratory system physiology	114034	TOE1	OMIM:614969
HP:0002795	Abnormal respiratory system physiology	5621	PRNP	OMIM:600072
HP:0002795	Abnormal respiratory system physiology	3767	KCNJ11	ORPHA:79644
HP:0002795	Abnormal respiratory system physiology	8604	SLC25A12	OMIM:612949
HP:0002795	Abnormal respiratory system physiology	2898	GRIK2	OMIM:619580
HP:0002795	Abnormal respiratory system physiology	9184	BUB3	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	699	BUB1	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	9319	TRIP13	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	701	BUB1B	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	84314	TMEM107	OMIM:617563
HP:0002795	Abnormal respiratory system physiology	9152	SLC6A5	OMIM:614618
HP:0002795	Abnormal respiratory system physiology	8943	AP3D1	OMIM:617050
HP:0002795	Abnormal respiratory system physiology	9289	ADGRG1	ORPHA:98889
HP:0002795	Abnormal respiratory system physiology	5297	PI4KA	ORPHA:98889
HP:0002795	Abnormal respiratory system physiology	23522	KAT6B	ORPHA:85201
HP:0002795	Abnormal respiratory system physiology	116461	TSEN15	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	79042	TSEN34	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	80746	TSEN2	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	51091	SEPSECS	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	4976	OPA1	OMIM:616896
HP:0002795	Abnormal respiratory system physiology	2741	GLRA1	OMIM:149400
HP:0002795	Abnormal respiratory system physiology	10243	GPHN	OMIM:149400
HP:0002795	Abnormal respiratory system physiology	57038	RARS2	OMIM:611523
HP:0002795	Abnormal respiratory system physiology	9562	MINPP1	OMIM:619527
HP:0002795	Abnormal respiratory system physiology	8241	RBM10	ORPHA:2886
HP:0002795	Abnormal respiratory system physiology	139285	AMER1	OMIM:300373
HP:0002795	Abnormal respiratory system physiology	55967	NDUFA12	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	51204	TACO1	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	100131801	PET100	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	1355	COX15	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	123263	MTFMT	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	51079	NDUFA13	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	4697	NDUFA4	ORPHA:255241
HP:0002795	Abnormal respiratory system physiology	54941	RNF125	OMIM:616260
HP:0002795	Abnormal respiratory system physiology	3798	KIF5A	OMIM:617235
HP:0002795	Abnormal respiratory system physiology	221927	BRAT1	OMIM:618056
HP:0002795	Abnormal respiratory system physiology	221927	BRAT1	OMIM:614498
HP:0002795	Abnormal respiratory system physiology	3329	HSPD1	OMIM:612233
HP:0002795	Abnormal respiratory system physiology	10008	KCNE3	ORPHA:681
HP:0002795	Abnormal respiratory system physiology	5498	PPOX	ORPHA:79473
HP:0002795	Abnormal respiratory system physiology	100134444	KCNJ18	ORPHA:79102
HP:0002795	Abnormal respiratory system physiology	2556	GABRA3	ORPHA:79102
HP:0002795	Abnormal respiratory system physiology	875	CBS	ORPHA:394
HP:0002795	Abnormal respiratory system physiology	2162	F13A1	OMIM:188050
HP:0002795	Abnormal respiratory system physiology	2147	F2	OMIM:188050
HP:0002795	Abnormal respiratory system physiology	7056	THBD	OMIM:614486
HP:0002795	Abnormal respiratory system physiology	462	SERPINC1	OMIM:613118
HP:0002795	Abnormal respiratory system physiology	462	SERPINC1	ORPHA:82
HP:0002795	Abnormal respiratory system physiology	5624	PROC	OMIM:612304
HP:0002795	Abnormal respiratory system physiology	5624	PROC	ORPHA:745
HP:0002795	Abnormal respiratory system physiology	5624	PROC	OMIM:176860
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	ORPHA:743
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	OMIM:614514
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	OMIM:612336
HP:0002795	Abnormal respiratory system physiology	2776	GNAQ	ORPHA:624
HP:0002795	Abnormal respiratory system physiology	2776	GNAQ	ORPHA:3205
HP:0002795	Abnormal respiratory system physiology	5728	PTEN	ORPHA:744
HP:0002795	Abnormal respiratory system physiology	1604	CD55	OMIM:226300
HP:0002795	Abnormal respiratory system physiology	3762	KCNJ5	OMIM:613485
HP:0002795	Abnormal respiratory system physiology	2157	F8	OMIM:301071
HP:0002795	Abnormal respiratory system physiology	149233	IL23R	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	3586	IL10	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	4210	MEFV	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	1230	CCR1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	355	FAS	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	3592	IL12A	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	7099	TLR4	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	720	C4A	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	337867	UBAC2	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	51752	ERAP1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	8302	KLRC4	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	5076	PAX2	ORPHA:97362
HP:0002795	Abnormal respiratory system physiology	199857	ALG14	OMIM:619036
HP:0002795	Abnormal respiratory system physiology	10059	DNM1L	OMIM:614388
HP:0002795	Abnormal respiratory system physiology	55627	SMPD4	OMIM:618622
HP:0002795	Abnormal respiratory system physiology	23417	MLYCD	OMIM:248360
HP:0002795	Abnormal respiratory system physiology	501	ALDH7A1	OMIM:266100
HP:0002795	Abnormal respiratory system physiology	501	ALDH7A1	ORPHA:3006
HP:0002795	Abnormal respiratory system physiology	55790	CSGALNACT1	OMIM:618870
HP:0002795	Abnormal respiratory system physiology	4868	NPHS1	OMIM:256300
HP:0002795	Abnormal respiratory system physiology	1146	CHRNG	OMIM:265000
HP:0002795	Abnormal respiratory system physiology	1146	CHRNG	ORPHA:2990
HP:0002795	Abnormal respiratory system physiology	84987	COX14	OMIM:619053
HP:0002795	Abnormal respiratory system physiology	55906	ZC4H2	OMIM:314580
HP:0002795	Abnormal respiratory system physiology	2917	GRM7	OMIM:618922
HP:0002795	Abnormal respiratory system physiology	9325	TRIP4	OMIM:616866
HP:0002795	Abnormal respiratory system physiology	9820	CUL7	OMIM:273750
HP:0002795	Abnormal respiratory system physiology	7490	WT1	OMIM:194080
HP:0002795	Abnormal respiratory system physiology	1339	COX6A2	OMIM:619062
HP:0002795	Abnormal respiratory system physiology	4905	NSF	OMIM:619340
HP:0002795	Abnormal respiratory system physiology	132158	GLYCTK	OMIM:220120
HP:0002795	Abnormal respiratory system physiology	2752	GLUL	OMIM:610015
HP:0002795	Abnormal respiratory system physiology	6628	SNRPB	OMIM:117650
HP:0002795	Abnormal respiratory system physiology	6628	SNRPB	ORPHA:1393
HP:0002795	Abnormal respiratory system physiology	57061	HYMAI	ORPHA:96191
HP:0002795	Abnormal respiratory system physiology	5325	PLAGL1	ORPHA:96191
HP:0002795	Abnormal respiratory system physiology	4576	MT-TT	ORPHA:254857
HP:0002795	Abnormal respiratory system physiology	5293	PIK3CD	ORPHA:221139
HP:0002795	Abnormal respiratory system physiology	90417	KNSTRN	ORPHA:221139
HP:0002795	Abnormal respiratory system physiology	145258	GSC	OMIM:602471
HP:0002795	Abnormal respiratory system physiology	8567	MADD	OMIM:619004
HP:0002795	Abnormal respiratory system physiology	8567	MADD	OMIM:619005
HP:0002795	Abnormal respiratory system physiology	253959	RALGAPA1	OMIM:618797
HP:0002795	Abnormal respiratory system physiology	5205	ATP8B1	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	8647	ABCB11	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	5244	ABCB4	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	9971	NR1H4	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	124583	CANT1	OMIM:251450
HP:0002795	Abnormal respiratory system physiology	5331	PLCB3	OMIM:618961
HP:0002795	Abnormal respiratory system physiology	10463	SLC30A9	OMIM:617595
HP:0002795	Abnormal respiratory system physiology	4621	MYH3	ORPHA:2990
HP:0002795	Abnormal respiratory system physiology	171023	ASXL1	OMIM:605039
HP:0002795	Abnormal respiratory system physiology	2719	GPC3	OMIM:312870
HP:0002795	Abnormal respiratory system physiology	2239	GPC4	OMIM:312870
HP:0002795	Abnormal respiratory system physiology	29969	MDFIC	OMIM:620014
HP:0002795	Abnormal respiratory system physiology	2673	GFPT1	OMIM:608931
HP:0002795	Abnormal respiratory system physiology	64419	MTMR14	ORPHA:169189
HP:0002795	Abnormal respiratory system physiology	4618	MYF6	ORPHA:169189
HP:0002795	Abnormal respiratory system physiology	22880	MORC2	ORPHA:466768
HP:0002795	Abnormal respiratory system physiology	84197	POMK	OMIM:615249
HP:0002795	Abnormal respiratory system physiology	1272	CNTN1	OMIM:612540
HP:0002795	Abnormal respiratory system physiology	84876	ORAI1	OMIM:612782
HP:0002795	Abnormal respiratory system physiology	80208	SPG11	OMIM:602099
HP:0002795	Abnormal respiratory system physiology	57449	PLEKHG5	OMIM:611067
HP:0002795	Abnormal respiratory system physiology	1674	DES	OMIM:601419
HP:0002795	Abnormal respiratory system physiology	1674	DES	ORPHA:98909
HP:0002795	Abnormal respiratory system physiology	51244	CCDC174	OMIM:616816
HP:0002795	Abnormal respiratory system physiology	2010	EMD	ORPHA:98863
HP:0002795	Abnormal respiratory system physiology	23676	SMPX	OMIM:301075
HP:0002795	Abnormal respiratory system physiology	9927	MFN2	OMIM:617087
HP:0002795	Abnormal respiratory system physiology	8803	SUCLA2	OMIM:612073
HP:0002795	Abnormal respiratory system physiology	8291	DYSF	ORPHA:45448
HP:0002795	Abnormal respiratory system physiology	23534	TNPO3	OMIM:608423
HP:0002795	Abnormal respiratory system physiology	54808	DYM	ORPHA:239
HP:0002795	Abnormal respiratory system physiology	79188	TMEM43	ORPHA:98853
HP:0002795	Abnormal respiratory system physiology	3763	KCNJ6	ORPHA:435628
HP:0002795	Abnormal respiratory system physiology	3763	KCNJ6	OMIM:614098
HP:0002795	Abnormal respiratory system physiology	3423	IDS	ORPHA:217085
HP:0002795	Abnormal respiratory system physiology	3423	IDS	ORPHA:217093
HP:0002795	Abnormal respiratory system physiology	2261	FGFR3	OMIM:100800
HP:0002795	Abnormal respiratory system physiology	57688	ZSWIM6	ORPHA:1827
HP:0002795	Abnormal respiratory system physiology	57688	ZSWIM6	OMIM:603671
HP:0002795	Abnormal respiratory system physiology	10020	GNE	ORPHA:3166
HP:0002795	Abnormal respiratory system physiology	65992	DDRGK1	ORPHA:93352
HP:0002795	Abnormal respiratory system physiology	7512	XPNPEP2	ORPHA:100057
HP:0002795	Abnormal respiratory system physiology	4000	LMNA	ORPHA:740
HP:0002795	Abnormal respiratory system physiology	10269	ZMPSTE24	ORPHA:740
HP:0002795	Abnormal respiratory system physiology	6452	SH3BP2	ORPHA:184
HP:0002795	Abnormal respiratory system physiology	27245	AHDC1	ORPHA:412069
HP:0002795	Abnormal respiratory system physiology	5447	POR	OMIM:207410
HP:0002795	Abnormal respiratory system physiology	2263	FGFR2	OMIM:207410
HP:0002795	Abnormal respiratory system physiology	6662	SOX9	ORPHA:718
HP:0002795	Abnormal respiratory system physiology	56244	BTNL2	ORPHA:797
HP:0002795	Abnormal respiratory system physiology	3123	HLA-DRB1	ORPHA:797
HP:0002795	Abnormal respiratory system physiology	1301	COL11A1	ORPHA:440354
HP:0002795	Abnormal respiratory system physiology	10128	LRPPRC	OMIM:220111
HP:0002795	Abnormal respiratory system physiology	3155	HMGCL	ORPHA:20
HP:0002795	Abnormal respiratory system physiology	137814	NKX2-6	ORPHA:3384
HP:0002795	Abnormal respiratory system physiology	23129	PLXND1	ORPHA:3384
HP:0002795	Abnormal respiratory system physiology	37	ACADVL	OMIM:201475
HP:0002795	Abnormal respiratory system physiology	37	ACADVL	ORPHA:26793
HP:0002795	Abnormal respiratory system physiology	763	CA5A	OMIM:615751
HP:0002795	Abnormal respiratory system physiology	5019	OXCT1	OMIM:245050
HP:0002795	Abnormal respiratory system physiology	90624	LYRM7	OMIM:615838
HP:0002795	Abnormal respiratory system physiology	415	ARSL	ORPHA:79345
HP:0002795	Abnormal respiratory system physiology	779	CACNA1S	ORPHA:423
HP:0002795	Abnormal respiratory system physiology	374354	NHLRC2	OMIM:618278
HP:0002795	Abnormal respiratory system physiology	3141	HLCS	OMIM:253270
HP:0002795	Abnormal respiratory system physiology	3141	HLCS	ORPHA:79242
HP:0002795	Abnormal respiratory system physiology	3508	IGHMBP2	OMIM:604320
HP:0002795	Abnormal respiratory system physiology	10166	SLC25A15	ORPHA:415
HP:0002795	Abnormal respiratory system physiology	388753	COA6	OMIM:616501
HP:0002795	Abnormal respiratory system physiology	686	BTD	OMIM:253260
HP:0002795	Abnormal respiratory system physiology	340061	STING1	OMIM:615934
HP:0002795	Abnormal respiratory system physiology	439	GET3	OMIM:620203
HP:0002795	Abnormal respiratory system physiology	59	ACTA2	OMIM:613834
HP:0002795	Abnormal respiratory system physiology	79583	TMEM231	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	51524	TMEM138	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	23090	ZNF423	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	506	ATP5F1B	OMIM:620085
HP:0002795	Abnormal respiratory system physiology	5095	PCCA	OMIM:606054
HP:0002795	Abnormal respiratory system physiology	5096	PCCB	OMIM:606054
HP:0002795	Abnormal respiratory system physiology	10568	SLC34A2	ORPHA:60025
HP:0002795	Abnormal respiratory system physiology	51025	PAM16	OMIM:613320
HP:0002795	Abnormal respiratory system physiology	388962	BOLA3	OMIM:614299
HP:0002795	Abnormal respiratory system physiology	5826	ABCD4	OMIM:614857
HP:0002795	Abnormal respiratory system physiology	6005	RHAG	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	6006	RHCE	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	6007	RHD	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	80184	CEP290	OMIM:610188
HP:0002795	Abnormal respiratory system physiology	51259	TMEM216	OMIM:608091
HP:0002795	Abnormal respiratory system physiology	283446	MYO1H	OMIM:619482
HP:0002795	Abnormal respiratory system physiology	60482	SLC5A7	OMIM:617143
HP:0002795	Abnormal respiratory system physiology	54681	P4HTM	OMIM:618493
HP:0002795	Abnormal respiratory system physiology	4726	NDUFS6	OMIM:618232
HP:0002795	Abnormal respiratory system physiology	8929	PHOX2B	OMIM:209880
HP:0002795	Abnormal respiratory system physiology	79628	SH3TC2	ORPHA:99949
HP:0002795	Abnormal respiratory system physiology	8292	COLQ	ORPHA:98915
HP:0002795	Abnormal respiratory system physiology	3913	LAMB2	ORPHA:98915
HP:0002795	Abnormal respiratory system physiology	1756	DMD	OMIM:310200
HP:0002795	Abnormal respiratory system physiology	7841	MOGS	ORPHA:79330
HP:0002795	Abnormal respiratory system physiology	7841	MOGS	OMIM:606056
HP:0002795	Abnormal respiratory system physiology	5428	POLG	OMIM:203700
HP:0002795	Abnormal respiratory system physiology	29072	SETD2	OMIM:620155
HP:0002795	Abnormal respiratory system physiology	3908	LAMA2	ORPHA:258
HP:0002795	Abnormal respiratory system physiology	199221	DZIP1L	ORPHA:731
HP:0002795	Abnormal respiratory system physiology	5314	PKHD1	ORPHA:731
HP:0002795	Abnormal respiratory system physiology	1303	COL12A1	ORPHA:610
HP:0002795	Abnormal respiratory system physiology	1291	COL6A1	ORPHA:610
HP:0002795	Abnormal respiratory system physiology	1292	COL6A2	ORPHA:610
HP:0002795	Abnormal respiratory system physiology	1293	COL6A3	ORPHA:610
HP:0002795	Abnormal respiratory system physiology	7681	MKRN3	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	3653	IPW	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	54551	MAGEL2	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	791114	PWRN1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	100033413	SNORD116-1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	8924	HERC2	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	145624	PWAR1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	23742	NPAP1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	338433	SNORD115-1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	5813	PURA	ORPHA:314655
HP:0002795	Abnormal respiratory system physiology	57190	SELENON	OMIM:602771
HP:0002795	Abnormal respiratory system physiology	7273	TTN	OMIM:603689
HP:0002795	Abnormal respiratory system physiology	7273	TTN	ORPHA:178464
HP:0002795	Abnormal respiratory system physiology	88	ACTN2	OMIM:618654
HP:0002795	Abnormal respiratory system physiology	51776	MAP3K20	OMIM:617760
HP:0002795	Abnormal respiratory system physiology	7169	TPM2	OMIM:609285
HP:0002795	Abnormal respiratory system physiology	7169	TPM2	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	84665	MYPN	OMIM:617336
HP:0002795	Abnormal respiratory system physiology	84665	MYPN	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	79912	PYROXD1	OMIM:617258
HP:0002795	Abnormal respiratory system physiology	58	ACTA1	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	390594	KBTBD13	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	4703	NEB	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	10324	KLHL41	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	7170	TPM3	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	81846	SBF2	ORPHA:99956
HP:0002795	Abnormal respiratory system physiology	6329	SCN4A	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	1134	CHRNA1	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	4038	LRP4	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	1305	COL13A1	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	1140	CHRNB1	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	1144	CHRND	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	1145	CHRNE	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	4593	MUSK	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	5913	RAPSN	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	375790	AGRN	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	221264	AK9	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	285489	DOK7	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	285489	DOK7	OMIM:254300
HP:0002795	Abnormal respiratory system physiology	729920	CRPPA	ORPHA:352479
HP:0002795	Abnormal respiratory system physiology	79600	TCTN1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	79848	CSPP1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	51684	SUFU	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54806	AHI1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54806	AHI1	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	153241	CEP120	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	153241	CEP120	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	65250	CPLANE1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	91147	TMEM67	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	91147	TMEM67	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	200894	ARL13B	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	9731	CEP104	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	219844	HYLS1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	23247	KATNIP	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	219854	TMEM218	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54903	MKS1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54903	MKS1	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	95681	CEP41	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	95681	CEP41	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	9786	KIAA0586	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	79867	TCTN2	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	80776	B9D2	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	10464	PIBF1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	80210	ARMC9	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	23116	TOGARAM1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	25776	CBY1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	27077	B9D1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	403	ARL3	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	65062	TMEM237	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	65062	TMEM237	ORPHA:220497
HP:0002795	Abnormal respiratory system physiology	7259	TSPYL1	ORPHA:168593
HP:0002795	Abnormal respiratory system physiology	7259	TSPYL1	OMIM:608800
HP:0002795	Abnormal respiratory system physiology	4487	MSX1	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	5818	NECTIN1	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	8626	TP63	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	3664	IRF6	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	2260	FGFR1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	2260	FGFR1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	28514	DLL1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	28514	DLL1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	28514	DLL1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	28514	DLL1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	10735	STAG2	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	10735	STAG2	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	2253	FGF8	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	2253	FGF8	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	2253	FGF8	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	2253	FGF8	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	8243	SMC1A	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	8243	SMC1A	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	6496	SIX3	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	6496	SIX3	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	6496	SIX3	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	6496	SIX3	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	7050	TGIF1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	7050	TGIF1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	7050	TGIF1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	7050	TGIF1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	4838	NODAL	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	4838	NODAL	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	4838	NODAL	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	4838	NODAL	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	6469	SHH	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	6469	SHH	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	6469	SHH	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	6469	SHH	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	7546	ZIC2	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	7546	ZIC2	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	7546	ZIC2	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	7546	ZIC2	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	2619	GAS1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	2619	GAS1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	2619	GAS1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	2619	GAS1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	84976	DISP1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	84976	DISP1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	84976	DISP1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	84976	DISP1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	2736	GLI2	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	2736	GLI2	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	2736	GLI2	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	2736	GLI2	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	8928	FOXH1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	8928	FOXH1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	8928	FOXH1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	8928	FOXH1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	5727	PTCH1	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	5727	PTCH1	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	5727	PTCH1	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	5727	PTCH1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	50937	CDON	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	50937	CDON	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	50937	CDON	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	50937	CDON	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	2767	GNA11	ORPHA:428
HP:0002795	Abnormal respiratory system physiology	846	CASR	ORPHA:428
HP:0002795	Abnormal respiratory system physiology	3593	IL12B	ORPHA:3287
HP:0002795	Abnormal respiratory system physiology	3106	HLA-B	ORPHA:3287
HP:0002795	Abnormal respiratory system physiology	6945	MLX	ORPHA:3287
HP:0002795	Abnormal respiratory system physiology	51322	WAC	ORPHA:466950
HP:0002795	Abnormal respiratory system physiology	6925	TCF4	ORPHA:2896
HP:0002795	Abnormal respiratory system physiology	22854	NTNG1	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	9568	GABBR2	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	4204	MECP2	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	4204	MECP2	ORPHA:778
HP:0002795	Abnormal respiratory system physiology	5903	RANBP2	ORPHA:88619
HP:0002795	Abnormal respiratory system physiology	2629	GBA1	ORPHA:77260
HP:0002795	Abnormal respiratory system physiology	27161	AGO2	OMIM:619149
HP:0002795	Abnormal respiratory system physiology	23322	RPGRIP1L	ORPHA:220497
HP:0002795	Abnormal respiratory system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	4867	NPHP1	ORPHA:220497
HP:0002795	Abnormal respiratory system physiology	57545	CC2D2A	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	23007	PLCH1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	9499	MYOT	ORPHA:266
HP:0002795	Abnormal respiratory system physiology	6888	TALDO1	ORPHA:101028
HP:0002795	Abnormal respiratory system physiology	6792	CDKL5	ORPHA:505652
HP:0002795	Abnormal respiratory system physiology	6340	SCNN1G	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6337	SCNN1A	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6338	SCNN1B	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6261	RYR1	ORPHA:98905
HP:0002795	Abnormal respiratory system physiology	6261	RYR1	ORPHA:324581
HP:0002795	Abnormal respiratory system physiology	176	ACAN	ORPHA:171866
HP:0002795	Abnormal respiratory system physiology	1280	COL2A1	ORPHA:94068
HP:0002795	Abnormal respiratory system physiology	1280	COL2A1	ORPHA:93346
HP:0002795	Abnormal respiratory system physiology	25978	CHMP2B	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	3178	HNRNPA1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	8148	TAF15	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5445	PON2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	9217	VAPB	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	8878	SQSTM1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5630	PRPH	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	29110	TBK1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	55830	GLT8D1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	755	CFAP410	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	10891	PPARGC1A	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	6647	SOD1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	10133	OPTN	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	1639	DCTN1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	9896	FIG4	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5444	PON1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5446	PON3	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	4744	NEFH	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5216	PFN1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	9782	MATR3	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	54209	TREM2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	7415	VCP	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	283	ANG	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	23435	TARDBP	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	29978	UBQLN2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2733	GLE1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2521	FUS	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	4750	NEK1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2043	EPHA4	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	6311	ATXN2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	1610	DAO	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2066	ERBB4	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	311	ANXA11	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	23025	UNC13A	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	899	CCNF	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	400916	CHCHD10	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	7092	TLL1	ORPHA:99106
HP:0002795	Abnormal respiratory system physiology	8314	BAP1	ORPHA:50251
HP:0002795	Abnormal respiratory system physiology	2290	FOXG1	OMIM:613454
HP:0002795	Abnormal respiratory system physiology	22845	DOLK	OMIM:610768
HP:0002795	Abnormal respiratory system physiology	3073	HEXA	OMIM:272800
HP:0002795	Abnormal respiratory system physiology	724066	ATXN8	ORPHA:98760
HP:0002795	Abnormal respiratory system physiology	6315	ATXN8OS	ORPHA:98760
HP:0002795	Abnormal respiratory system physiology	22872	SEC31A	OMIM:618651
HP:0002795	Abnormal respiratory system physiology	64801	ARV1	OMIM:617020
HP:0002795	Abnormal respiratory system physiology	1641	DCX	ORPHA:2148
HP:0002795	Abnormal respiratory system physiology	2760	GM2A	OMIM:272750
HP:0002795	Abnormal respiratory system physiology	8367	H4C5	OMIM:619950
HP:0002795	Abnormal respiratory system physiology	23126	POGZ	OMIM:616364
HP:0002795	Abnormal respiratory system physiology	23126	POGZ	ORPHA:468678
HP:0002795	Abnormal respiratory system physiology	23314	SATB2	ORPHA:251028
HP:0002795	Abnormal respiratory system physiology	8087	FXR1	OMIM:618822
HP:0002795	Abnormal respiratory system physiology	8087	FXR1	OMIM:618823
HP:0002795	Abnormal respiratory system physiology	285175	UNC80	ORPHA:371364
HP:0002795	Abnormal respiratory system physiology	781	CACNA2D1	OMIM:620149
HP:0002795	Abnormal respiratory system physiology	2887	GRB10	ORPHA:96182
HP:0002795	Abnormal respiratory system physiology	51611	DPH5	OMIM:620070
HP:0002795	Abnormal respiratory system physiology	5575	PRKAR1B	OMIM:619680
HP:0002795	Abnormal respiratory system physiology	4854	NOTCH3	OMIM:130720
HP:0002795	Abnormal respiratory system physiology	7750	ZMYM2	OMIM:619522
HP:0002795	Abnormal respiratory system physiology	283489	CHAMP1	OMIM:616579
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:98754
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:177904
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:177901
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:98754
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:177904
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:177901
HP:0002795	Abnormal respiratory system physiology	6497	SKI	OMIM:182212
HP:0002795	Abnormal respiratory system physiology	4841	NONO	ORPHA:466791
HP:0002795	Abnormal respiratory system physiology	8888	MCM3AP	OMIM:618124
HP:0002795	Abnormal respiratory system physiology	112939	NACC1	OMIM:617393
HP:0002795	Abnormal respiratory system physiology	650	BMP2	OMIM:617877
HP:0002795	Abnormal respiratory system physiology	57479	PRR12	OMIM:619539
HP:0002795	Abnormal respiratory system physiology	7703	PCGF2	OMIM:618371
HP:0002795	Abnormal respiratory system physiology	9401	RECQL4	OMIM:218600
HP:0002795	Abnormal respiratory system physiology	4340	MOG	OMIM:614250
HP:0002795	Abnormal respiratory system physiology	372	ARCN1	OMIM:617164
HP:0002795	Abnormal respiratory system physiology	2902	GRIN1	OMIM:614254
HP:0002795	Abnormal respiratory system physiology	1822	ATN1	OMIM:618494
HP:0002795	Abnormal respiratory system physiology	1642	DDB1	OMIM:619426
HP:0002795	Abnormal respiratory system physiology	55770	EXOC2	OMIM:619306
HP:0002795	Abnormal respiratory system physiology	9230	RAB11B	OMIM:617807
HP:0002795	Abnormal respiratory system physiology	9895	TECPR2	ORPHA:320385
HP:0002795	Abnormal respiratory system physiology	9895	TECPR2	OMIM:615031
HP:0002795	Abnormal respiratory system physiology	54902	TTC19	OMIM:615157
HP:0002795	Abnormal respiratory system physiology	10716	TBR1	ORPHA:1617
HP:0002795	Abnormal respiratory system physiology	3717	JAK2	OMIM:133100
HP:0002795	Abnormal respiratory system physiology	10019	SH2B3	OMIM:133100
HP:0002795	Abnormal respiratory system physiology	291	SLC25A4	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	56652	TWNK	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	11232	POLG2	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	50484	RRM2B	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	57057	TBX20	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	4624	MYH6	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	1482	NKX2-5	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	70	ACTC1	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	10370	CITED2	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	10370	CITED2	ORPHA:99105
HP:0002795	Abnormal respiratory system physiology	2626	GATA4	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	2627	GATA6	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	1727	CYB5R3	OMIM:250800
HP:0002795	Abnormal respiratory system physiology	1727	CYB5R3	ORPHA:621
HP:0002795	Abnormal respiratory system physiology	1763	DNA2	OMIM:615156
HP:0002795	Abnormal respiratory system physiology	1763	DNA2	ORPHA:352470
HP:0002795	Abnormal respiratory system physiology	7414	VCL	OMIM:613255
HP:0002795	Abnormal respiratory system physiology	84334	COA8	ORPHA:436271
HP:0002795	Abnormal respiratory system physiology	4629	MYH11	ORPHA:229
HP:0002795	Abnormal respiratory system physiology	4629	MYH11	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	63895	PIEZO2	OMIM:108145
HP:0002795	Abnormal respiratory system physiology	1528	CYB5A	ORPHA:621
HP:0002795	Abnormal respiratory system physiology	5339	PLEC	ORPHA:254361
HP:0002795	Abnormal respiratory system physiology	57570	TRMT5	OMIM:616539
HP:0002795	Abnormal respiratory system physiology	5573	PRKAR1A	ORPHA:615
HP:0002795	Abnormal respiratory system physiology	5573	PRKAR1A	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	34	ACADM	ORPHA:42
HP:0002795	Abnormal respiratory system physiology	79572	ATP13A3	OMIM:265400
HP:0002795	Abnormal respiratory system physiology	4634	MYL3	OMIM:608751
HP:0002795	Abnormal respiratory system physiology	5837	PYGM	ORPHA:368
HP:0002795	Abnormal respiratory system physiology	5371	PML	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	5914	RARA	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	359948	IRF2BP2	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	81608	FIP1L1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	4869	NPM1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	54880	BCOR	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	64859	NABP1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	6777	STAT5B	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	4926	NUMA1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	7704	ZBTB16	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	79718	TBL1XR1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	2992	GYG1	ORPHA:263297
HP:0002795	Abnormal respiratory system physiology	7134	TNNC1	OMIM:613243
HP:0002795	Abnormal respiratory system physiology	7046	TGFBR1	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4015	LOX	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4087	SMAD2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7043	TGFB3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4088	SMAD3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7042	TGFB2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	2200	FBN1	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	5592	PRKG1	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	2301	FOXE3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4144	MAT2A	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	23493	HEY2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	8076	MFAP5	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4638	MYLK	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	2006	ELN	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7385	UQCRC2	OMIM:615160
HP:0002795	Abnormal respiratory system physiology	10210	TOPORS	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	9851	KIAA0753	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	26123	TCTN3	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	5147	PDE6D	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	317662	FAM149B1	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	374654	KIF7	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	3190	HNRNPK	ORPHA:453504
HP:0002795	Abnormal respiratory system physiology	3190	HNRNPK	ORPHA:352665
HP:0002795	Abnormal respiratory system physiology	1073	CFL2	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	3728	JUP	ORPHA:158687
HP:0002795	Abnormal respiratory system physiology	28981	IFT81	OMIM:617895
HP:0002795	Abnormal respiratory system physiology	4574	MT-TS1	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	4570	MT-TN	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	6834	SURF1	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	6834	SURF1	ORPHA:70474
HP:0002795	Abnormal respiratory system physiology	8506	CNTNAP1	OMIM:618186
HP:0002795	Abnormal respiratory system physiology	7167	TPI1	OMIM:615512
HP:0002795	Abnormal respiratory system physiology	10102	TSFM	OMIM:610505
HP:0002795	Abnormal respiratory system physiology	4173	MCM4	OMIM:609981
HP:0002795	Abnormal respiratory system physiology	81570	CLPB	ORPHA:445038
HP:0002795	Abnormal respiratory system physiology	26580	BSCL2	ORPHA:363400
HP:0002795	Abnormal respiratory system physiology	54768	HYDIN	OMIM:608647
HP:0002795	Abnormal respiratory system physiology	54768	HYDIN	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	91942	NDUFAF2	OMIM:618233
HP:0002795	Abnormal respiratory system physiology	54968	TMEM70	ORPHA:1194
HP:0002795	Abnormal respiratory system physiology	283989	TSEN54	OMIM:225753
HP:0002795	Abnormal respiratory system physiology	388015	RTL1	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	388015	RTL1	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	8788	DLK1	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	8788	DLK1	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	55384	MEG3	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	55384	MEG3	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	6536	SLC6A9	OMIM:617301
HP:0002795	Abnormal respiratory system physiology	131377	KLHL40	ORPHA:171430
HP:0002795	Abnormal respiratory system physiology	131377	KLHL40	OMIM:615348
HP:0002795	Abnormal respiratory system physiology	56203	LMOD3	ORPHA:171430
HP:0002795	Abnormal respiratory system physiology	5160	PDHA1	OMIM:312170
HP:0002795	Abnormal respiratory system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0002795	Abnormal respiratory system physiology	1841	DTYMK	OMIM:619847
HP:0002795	Abnormal respiratory system physiology	341640	FREM2	OMIM:617666
HP:0002795	Abnormal respiratory system physiology	84466	MEGF10	OMIM:614399
HP:0002795	Abnormal respiratory system physiology	5660	PSAP	OMIM:611722
HP:0002795	Abnormal respiratory system physiology	5660	PSAP	ORPHA:206436
HP:0002795	Abnormal respiratory system physiology	1410	CRYAB	OMIM:613869
HP:0002795	Abnormal respiratory system physiology	6904	TBCD	ORPHA:496641
HP:0002795	Abnormal respiratory system physiology	29925	GMPPB	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	79147	FKRP	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	79147	FKRP	OMIM:606612
HP:0002795	Abnormal respiratory system physiology	29954	POMT2	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	9215	LARGE1	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	90	ACVR1	OMIM:135100
HP:0002795	Abnormal respiratory system physiology	7084	TK2	ORPHA:254875
HP:0002795	Abnormal respiratory system physiology	25915	NDUFAF3	OMIM:618240
HP:0002795	Abnormal respiratory system physiology	25915	NDUFAF3	ORPHA:70474
HP:0002795	Abnormal respiratory system physiology	55037	PTCD3	OMIM:619057
HP:0002795	Abnormal respiratory system physiology	23511	NUP188	OMIM:618804
HP:0002795	Abnormal respiratory system physiology	91137	SLC25A46	OMIM:616505
HP:0002795	Abnormal respiratory system physiology	91137	SLC25A46	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	51008	ASCC1	OMIM:616867
HP:0002795	Abnormal respiratory system physiology	1509	CTSD	OMIM:610127
HP:0002795	Abnormal respiratory system physiology	9570	GOSR2	OMIM:620166
HP:0002795	Abnormal respiratory system physiology	6606	SMN1	OMIM:253300
HP:0002795	Abnormal respiratory system physiology	81620	CDT1	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	5000	ORC4	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	23594	ORC6	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	8318	CDC45	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	990	CDC6	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	4998	ORC1	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	51053	GMNN	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	54539	NDUFB11	ORPHA:2556
HP:0002795	Abnormal respiratory system physiology	1349	COX7B	ORPHA:2556
HP:0002795	Abnormal respiratory system physiology	3052	HCCS	ORPHA:2556
HP:0002795	Abnormal respiratory system physiology	8802	SUCLG1	OMIM:245400
HP:0002795	Abnormal respiratory system physiology	4547	MTTP	ORPHA:14
HP:0002795	Abnormal respiratory system physiology	5354	PLP1	ORPHA:280210
HP:0002795	Abnormal respiratory system physiology	191	AHCY	ORPHA:88618
HP:0002795	Abnormal respiratory system physiology	4633	MYL2	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	3679	ITGA7	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	9200	HACD1	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	5277	PIGA	OMIM:300868
HP:0002795	Abnormal respiratory system physiology	4714	NDUFB8	OMIM:618252
HP:0002795	Abnormal respiratory system physiology	4714	NDUFB8	ORPHA:70474
HP:0002795	Abnormal respiratory system physiology	84896	ATAD1	OMIM:618011
HP:0002795	Abnormal respiratory system physiology	4632	MYL1	OMIM:618414
HP:0002795	Abnormal respiratory system physiology	89910	UBE3B	ORPHA:2707
HP:0002795	Abnormal respiratory system physiology	3265	HRAS	OMIM:218040
HP:0002795	Abnormal respiratory system physiology	27130	INVS	OMIM:602088
HP:0002795	Abnormal respiratory system physiology	11340	EXOSC8	OMIM:616081
HP:0002795	Abnormal respiratory system physiology	11340	EXOSC8	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	5190	PEX6	OMIM:614862
HP:0002795	Abnormal respiratory system physiology	5393	EXOSC9	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	23287	AGTPBP1	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	51010	EXOSC3	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	7443	VRK1	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	3032	HADHB	ORPHA:746
HP:0002795	Abnormal respiratory system physiology	3030	HADHA	ORPHA:746
HP:0002795	Abnormal respiratory system physiology	3030	HADHA	OMIM:609015
HP:0002795	Abnormal respiratory system physiology	81031	SLC2A10	ORPHA:3342
HP:0002795	Abnormal respiratory system physiology	2624	GATA2	ORPHA:3226
HP:0002795	Abnormal respiratory system physiology	92667	MGME1	ORPHA:352447
HP:0002795	Abnormal respiratory system physiology	4720	NDUFS2	ORPHA:70474
HP:0002795	Abnormal respiratory system physiology	56052	ALG1	ORPHA:79327
HP:0002795	Abnormal respiratory system physiology	4089	SMAD4	OMIM:139210
HP:0002795	Abnormal respiratory system physiology	128240	NAXE	OMIM:617186
HP:0002795	Abnormal respiratory system physiology	2548	GAA	ORPHA:308552
HP:0002795	Abnormal respiratory system physiology	10660	LBX1	OMIM:619483
HP:0002795	Abnormal respiratory system physiology	2273	FHL1	OMIM:300717
HP:0002795	Abnormal respiratory system physiology	2674	GFRA1	OMIM:619887
HP:0002795	Abnormal respiratory system physiology	1605	DAG1	OMIM:616538
HP:0002795	Abnormal respiratory system physiology	7284	TUFM	OMIM:610678
HP:0002795	Abnormal respiratory system physiology	2065	ERBB3	OMIM:607598
HP:0002795	Abnormal respiratory system physiology	56975	FAM20C	ORPHA:1832
HP:0002795	Abnormal respiratory system physiology	6310	ATXN1	ORPHA:98755
HP:0002795	Abnormal respiratory system physiology	1376	CPT2	OMIM:608836
HP:0002795	Abnormal respiratory system physiology	427	ASAH1	ORPHA:2590
HP:0002795	Abnormal respiratory system physiology	590	BCHE	ORPHA:132
HP:0002795	Abnormal respiratory system physiology	10577	NPC2	OMIM:607625
HP:0002795	Abnormal respiratory system physiology	64135	IFIH1	OMIM:619773
HP:0002795	Abnormal respiratory system physiology	6651	SON	ORPHA:500150
HP:0002795	Abnormal respiratory system physiology	200205	IBA57	OMIM:615330
HP:0002795	Abnormal respiratory system physiology	125988	MICOS13	OMIM:618329
HP:0002795	Abnormal respiratory system physiology	4724	NDUFS4	OMIM:252010
HP:0002795	Abnormal respiratory system physiology	100151683	RNU4ATAC	ORPHA:2636
HP:0002795	Abnormal respiratory system physiology	3458	IFNG	ORPHA:805
HP:0002795	Abnormal respiratory system physiology	55005	RMND1	OMIM:614922
HP:0002795	Abnormal respiratory system physiology	4683	NBN	ORPHA:647
HP:0002795	Abnormal respiratory system physiology	2581	GALC	ORPHA:206436
HP:0002795	Abnormal respiratory system physiology	28962	OSTM1	OMIM:259720
HP:0002795	Abnormal respiratory system physiology	25981	DNAH1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	352909	DNAAF3	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	27148	STK36	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	51314	NME8	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	92749	DRC1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	54970	TTC12	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	152110	NEK10	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	8481	OFD1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	2302	FOXJ1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	85478	CCDC65	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	51364	ZMYND10	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	6674	SPAG1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	83544	DNAL1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	83538	ODAD4	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	200373	CFAP221	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	374407	DNAJB13	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	55172	DNAAF2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	23639	DNAAF11	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	27019	DNAI1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	345895	RSPH4A	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	54919	DNAAF5	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	6103	RPGR	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	93233	ODAD1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	55130	ODAD2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	1767	DNAH5	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	56683	CFAP298	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	79925	SPEF2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	10309	CCNO	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	123872	DNAAF1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	85016	CFAP300	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	23299	BICD2	OMIM:618291
HP:0002795	Abnormal respiratory system physiology	27247	NFU1	OMIM:605711
HP:0002795	Abnormal respiratory system physiology	1892	ECHS1	OMIM:616277
HP:0002795	Abnormal respiratory system physiology	115286	SLC25A26	OMIM:616794
HP:0002795	Abnormal respiratory system physiology	9054	NFS1	OMIM:619386
HP:0002795	Abnormal respiratory system physiology	27429	HTRA2	OMIM:617248
HP:0002795	Abnormal respiratory system physiology	54938	SARS2	OMIM:613845
HP:0002795	Abnormal respiratory system physiology	165918	RNF168	ORPHA:420741
HP:0002795	Abnormal respiratory system physiology	4054	LTBP3	OMIM:617809
HP:0002795	Abnormal respiratory system physiology	64116	SLC39A8	ORPHA:468699
HP:0002795	Abnormal respiratory system physiology	10667	FARS2	ORPHA:466722
HP:0002795	Abnormal respiratory system physiology	788	SLC25A20	ORPHA:159
HP:0002795	Abnormal respiratory system physiology	25792	CIZ1	ORPHA:420492
HP:0002795	Abnormal respiratory system physiology	11011	TLK2	OMIM:618050
HP:0002795	Abnormal respiratory system physiology	1137	CHRNA4	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1135	CHRNA2	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	57010	CABP4	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1141	CHRNB2	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	57582	KCNT1	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1392	CRH	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	9681	DEPDC5	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	4535	MT-ND1	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4536	MT-ND2	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4537	MT-ND3	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4538	MT-ND4	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4567	MT-TL1	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4578	MT-TW	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4577	MT-TV	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4508	MT-ATP6	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4540	MT-ND5	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4541	MT-ND6	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4566	MT-TK	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	6513	SLC2A1	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2562	GABRB3	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2554	GABRA1	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	8912	CACNA1H	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	8629	JRK	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2566	GABRG2	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2203	FBP1	OMIM:229700
HP:0002795	Abnormal respiratory system physiology	6857	SYT1	ORPHA:522077
HP:0002795	Abnormal respiratory system physiology	7386	UQCRFS1	OMIM:618775
HP:0002795	Abnormal respiratory system physiology	26047	CNTNAP2	OMIM:610042
HP:0002795	Abnormal respiratory system physiology	816	CAMK2B	OMIM:617799
HP:0002795	Abnormal respiratory system physiology	9378	NRXN1	OMIM:614325
HP:0002795	Abnormal respiratory system physiology	3181	HNRNPA2B1	ORPHA:52430
HP:0002795	Abnormal respiratory system physiology	8573	CASK	OMIM:300749
HP:0002795	Abnormal respiratory system physiology	84842	HPDL	OMIM:619026
HP:0002795	Abnormal respiratory system physiology	1806	DPYD	ORPHA:1675
HP:0002795	Abnormal respiratory system physiology	7187	TRAF3	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	81622	UNC93B1	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	148022	TICAM1	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	7098	TLR3	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	80199	FUZ	ORPHA:1136
HP:0002795	Abnormal respiratory system physiology	406932	MIR140	OMIM:618618
HP:0002795	Abnormal respiratory system physiology	728294	D2HGDH	OMIM:600721
HP:0002795	Abnormal respiratory system physiology	3899	AFF3	OMIM:619297
HP:0002795	Abnormal respiratory system physiology	8518	ELP1	OMIM:223900
HP:0002795	Abnormal respiratory system physiology	2258	FGF13	OMIM:301058
HP:0002795	Abnormal respiratory system physiology	36	ACADSB	OMIM:610006
HP:0002795	Abnormal respiratory system physiology	8398	PLA2G6	ORPHA:35069
HP:0002795	Abnormal respiratory system physiology	8942	KYNU	ORPHA:79155
HP:0002795	Abnormal respiratory system physiology	7840	ALMS1	ORPHA:64
HP:0002795	Abnormal respiratory system physiology	83861	RSPH3	OMIM:616481
HP:0002795	Abnormal respiratory system physiology	5265	SERPINA1	OMIM:613490
HP:0002795	Abnormal respiratory system physiology	4625	MYH7	ORPHA:437572
HP:0002795	Abnormal respiratory system physiology	5880	RAC2	OMIM:618986
HP:0002795	Abnormal respiratory system physiology	7454	WAS	ORPHA:906
HP:0002795	Abnormal respiratory system physiology	7456	WIPF1	ORPHA:906
HP:0002795	Abnormal respiratory system physiology	1493	CTLA4	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	26191	PTPN22	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	3115	HLA-DPB1	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	5657	PRTN3	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	3113	HLA-DPA1	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	1312	COMT	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	221037	JMJD1C	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	2812	GP1BB	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6239	RREB1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6899	TBX1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6899	TBX1	OMIM:188400
HP:0002795	Abnormal respiratory system physiology	7290	HIRA	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	9632	SEC24C	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	7353	UFD1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	421	ARVCF	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	2717	GLA	ORPHA:324
HP:0002795	Abnormal respiratory system physiology	641	BLM	ORPHA:125
HP:0002795	Abnormal respiratory system physiology	3162	HMOX1	OMIM:606963
HP:0002795	Abnormal respiratory system physiology	4312	MMP1	OMIM:606963
HP:0002795	Abnormal respiratory system physiology	89765	RSPH1	OMIM:615481
HP:0002795	Abnormal respiratory system physiology	219972	MPEG1	OMIM:619223
HP:0002795	Abnormal respiratory system physiology	345643	MCIDAS	OMIM:618695
HP:0002795	Abnormal respiratory system physiology	161582	DNAAF4	OMIM:615482
HP:0002795	Abnormal respiratory system physiology	146206	CARMIL2	OMIM:618131
HP:0002795	Abnormal respiratory system physiology	221421	RSPH9	OMIM:612650
HP:0002795	Abnormal respiratory system physiology	79875	THSD4	OMIM:619825
HP:0002795	Abnormal respiratory system physiology	4790	NFKB1	OMIM:616576
HP:0002795	Abnormal respiratory system physiology	1536	CYBB	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	4688	NCF2	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	1535	CYBA	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	4689	NCF4	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	653361	NCF1	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	79415	CYBC1	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	27040	LAT	OMIM:617514
HP:0002795	Abnormal respiratory system physiology	8737	RIPK1	OMIM:618108
HP:0002795	Abnormal respiratory system physiology	83737	ITCH	ORPHA:228426
HP:0002795	Abnormal respiratory system physiology	83737	ITCH	OMIM:613385
HP:0002795	Abnormal respiratory system physiology	84992	PIGY	OMIM:616809
HP:0002795	Abnormal respiratory system physiology	2304	FOXE1	ORPHA:319487
HP:0002795	Abnormal respiratory system physiology	3026	HABP2	ORPHA:319487
HP:0002795	Abnormal respiratory system physiology	3835	KIF22	ORPHA:93360
HP:0002795	Abnormal respiratory system physiology	324	APC	ORPHA:261584
HP:0002795	Abnormal respiratory system physiology	23233	EXOC6B	ORPHA:93359
HP:0002795	Abnormal respiratory system physiology	57211	ADGRG6	OMIM:616503
HP:0002795	Abnormal respiratory system physiology	79770	TXNDC15	OMIM:619879
HP:0002795	Abnormal respiratory system physiology	1644	DDC	OMIM:608643
HP:0002795	Abnormal respiratory system physiology	3920	LAMP2	ORPHA:34587
HP:0002795	Abnormal respiratory system physiology	3198	HOXA1	OMIM:601536
HP:0002795	Abnormal respiratory system physiology	54675	CRLS1	OMIM:620167
HP:0002795	Abnormal respiratory system physiology	79158	GNPTAB	ORPHA:576
HP:0002795	Abnormal respiratory system physiology	4784	NFIX	OMIM:602535
HP:0002795	Abnormal respiratory system physiology	2316	FLNA	OMIM:305620
HP:0002795	Abnormal respiratory system physiology	65082	VPS33A	ORPHA:505248
HP:0002795	Abnormal respiratory system physiology	57128	LYRM4	OMIM:615595
HP:0002795	Abnormal respiratory system physiology	182	JAG1	OMIM:619574
HP:0002795	Abnormal respiratory system physiology	59341	TRPV4	OMIM:606071
HP:0002795	Abnormal respiratory system physiology	59341	TRPV4	OMIM:181405
HP:0002795	Abnormal respiratory system physiology	6885	MAP3K7	OMIM:617137
HP:0002795	Abnormal respiratory system physiology	775	CACNA1C	OMIM:620029
HP:0002795	Abnormal respiratory system physiology	27235	COQ2	ORPHA:227510
HP:0002795	Abnormal respiratory system physiology	27235	COQ2	ORPHA:98933
HP:0002795	Abnormal respiratory system physiology	6571	SLC18A2	ORPHA:352649
HP:0002795	Abnormal respiratory system physiology	3909	LAMA3	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	3918	LAMC2	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	3914	LAMB3	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	1513	CTSK	ORPHA:763
HP:0002795	Abnormal respiratory system physiology	7849	PAX8	OMIM:218700
HP:0002795	Abnormal respiratory system physiology	6576	SLC25A1	OMIM:615182
HP:0002795	Abnormal respiratory system physiology	6576	SLC25A1	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	91179	SCARF2	OMIM:600920
HP:0002795	Abnormal respiratory system physiology	667	DST	OMIM:614653
HP:0002795	Abnormal respiratory system physiology	4281	MID1	ORPHA:2745
HP:0002795	Abnormal respiratory system physiology	2782	GNB1	OMIM:616973
HP:0002795	Abnormal respiratory system physiology	4649	MYO9A	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	1103	CHAT	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	6843	VAMP1	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	127833	SYT2	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	6572	SLC18A3	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	6616	SNAP25	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	113278	SLC52A3	OMIM:211530
HP:0002795	Abnormal respiratory system physiology	84705	GTPBP3	ORPHA:444013
HP:0002795	Abnormal respiratory system physiology	7291	TWIST1	ORPHA:794
HP:0002795	Abnormal respiratory system physiology	2615	LRRC32	OMIM:619074
HP:0002795	Abnormal respiratory system physiology	6197	RPS6KA3	ORPHA:192
HP:0002795	Abnormal respiratory system physiology	54892	NCAPG2	OMIM:618460
HP:0002795	Abnormal respiratory system physiology	2132	EXT2	OMIM:616682
HP:0002795	Abnormal respiratory system physiology	26005	C2CD3	ORPHA:434179
HP:0002795	Abnormal respiratory system physiology	10060	ABCC9	OMIM:619719
HP:0002795	Abnormal respiratory system physiology	8405	SPOP	OMIM:618829
HP:0002795	Abnormal respiratory system physiology	2934	GSN	ORPHA:85448
HP:0002795	Abnormal respiratory system physiology	65993	MRPS34	OMIM:617664
HP:0002795	Abnormal respiratory system physiology	9442	MED27	OMIM:619286
HP:0002795	Abnormal respiratory system physiology	473	RERE	OMIM:616975
HP:0002795	Abnormal respiratory system physiology	9702	CEP57	OMIM:614114
HP:0002795	Abnormal respiratory system physiology	51341	ZBTB7A	OMIM:619769
HP:0002795	Abnormal respiratory system physiology	10743	RAI1	ORPHA:1713
HP:0002795	Abnormal respiratory system physiology	201163	FLCN	OMIM:610883
HP:0002795	Abnormal respiratory system physiology	51574	LARP7	ORPHA:319671
HP:0002795	Abnormal respiratory system physiology	27286	SRPX2	ORPHA:1945
HP:0002795	Abnormal respiratory system physiology	2903	GRIN2A	ORPHA:1945
HP:0002795	Abnormal respiratory system physiology	9049	AIP	ORPHA:963
HP:0002795	Abnormal respiratory system physiology	25942	SIN3A	OMIM:613406
HP:0002795	Abnormal respiratory system physiology	54496	PRMT7	ORPHA:464288
HP:0002795	Abnormal respiratory system physiology	1801	DPH1	ORPHA:459061
HP:0002795	Abnormal respiratory system physiology	1499	CTNNB1	ORPHA:54595
HP:0002795	Abnormal respiratory system physiology	673	BRAF	ORPHA:54595
HP:0002795	Abnormal respiratory system physiology	57003	CCDC47	OMIM:618268
HP:0002795	Abnormal respiratory system physiology	22943	DKK1	ORPHA:268882
HP:0002795	Abnormal respiratory system physiology	133686	NADK2	ORPHA:431361
HP:0002795	Abnormal respiratory system physiology	23219	FBXO28	OMIM:619777
HP:0002795	Abnormal respiratory system physiology	5631	PRPS1	ORPHA:423479
HP:0002795	Abnormal respiratory system physiology	8621	CDK13	OMIM:617360
HP:0002795	Abnormal respiratory system physiology	6492	SIM1	ORPHA:398079
HP:0002795	Abnormal respiratory system physiology	8911	CACNA1I	OMIM:620114
HP:0002795	Abnormal respiratory system physiology	5979	RET	ORPHA:99803
HP:0002795	Abnormal respiratory system physiology	429	ASCL1	ORPHA:99803
HP:0002795	Abnormal respiratory system physiology	9997	SCO2	OMIM:604377
HP:0002795	Abnormal respiratory system physiology	2744	GLS	OMIM:618328
HP:0002795	Abnormal respiratory system physiology	16	AARS1	OMIM:619661
HP:0002795	Abnormal respiratory system physiology	2161	F12	OMIM:610618
HP:0002795	Abnormal respiratory system physiology	959	CD40LG	OMIM:308230
HP:0002795	Abnormal respiratory system physiology	23019	CNOT1	ORPHA:556955
HP:0002795	Abnormal respiratory system physiology	51651	PTRH2	ORPHA:456312
HP:0002795	Abnormal respiratory system physiology	8974	P4HA2	ORPHA:397
HP:0002795	Abnormal respiratory system physiology	3561	IL2RG	ORPHA:276
HP:0002795	Abnormal respiratory system physiology	139212	DNAAF6	OMIM:300991
HP:0002795	Abnormal respiratory system physiology	2622	GAS8	OMIM:616726
HP:0002795	Abnormal respiratory system physiology	2057	EPOR	ORPHA:90042
HP:0002795	Abnormal respiratory system physiology	1776	DNASE1L3	ORPHA:36412
HP:0002795	Abnormal respiratory system physiology	6556	SLC11A1	ORPHA:3389
HP:0002795	Abnormal respiratory system physiology	727897	MUC5B	OMIM:178500
HP:0002795	Abnormal respiratory system physiology	727897	MUC5B	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	729238	SFTPA2	OMIM:178500
HP:0002795	Abnormal respiratory system physiology	729238	SFTPA2	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	7015	TERT	OMIM:178500
HP:0002795	Abnormal respiratory system physiology	7015	TERT	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	7015	TERT	OMIM:614742
HP:0002795	Abnormal respiratory system physiology	4141	MARS1	OMIM:615486
HP:0002795	Abnormal respiratory system physiology	440275	EIF2AK4	OMIM:234810
HP:0002795	Abnormal respiratory system physiology	146845	CFAP52	OMIM:619607
HP:0002795	Abnormal respiratory system physiology	388389	CCDC103	OMIM:614679
HP:0002795	Abnormal respiratory system physiology	7248	TSC1	ORPHA:538
HP:0002795	Abnormal respiratory system physiology	7249	TSC2	ORPHA:538
HP:0002795	Abnormal respiratory system physiology	3119	HLA-DQB1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	9244	CRLF1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	3117	HLA-DQA1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	4842	NOS1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	9663	LPIN2	ORPHA:77297
HP:0002795	Abnormal respiratory system physiology	10320	IKZF1	ORPHA:36426
HP:0002795	Abnormal respiratory system physiology	1439	CSF2RB	ORPHA:264675
HP:0002795	Abnormal respiratory system physiology	1438	CSF2RA	ORPHA:264675
HP:0002795	Abnormal respiratory system physiology	6772	STAT1	OMIM:614162
HP:0002795	Abnormal respiratory system physiology	653509	SFTPA1	OMIM:619611
HP:0002795	Abnormal respiratory system physiology	653509	SFTPA1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	6774	STAT3	ORPHA:2314
HP:0002795	Abnormal respiratory system physiology	79991	STN1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	1832	DSP	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	10144	FAM13A	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	23250	ATP11A	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	91039	DPP9	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	51750	RTEL1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	7012	TERC	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	5073	PARN	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	5073	PARN	OMIM:616371
HP:0002795	Abnormal respiratory system physiology	3431	SP110	ORPHA:79124
HP:0002795	Abnormal respiratory system physiology	659	BMPR2	OMIM:178600
HP:0002795	Abnormal respiratory system physiology	254428	SLC41A1	OMIM:619468
HP:0002795	Abnormal respiratory system physiology	115399	LRRC56	OMIM:618254
HP:0002795	Abnormal respiratory system physiology	84818	IL17RC	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	64581	CLEC7A	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	23765	IL17RA	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	112744	IL17F	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	5981	RFC1	OMIM:614575
HP:0002795	Abnormal respiratory system physiology	5376	PMP22	ORPHA:90658
HP:0002795	Abnormal respiratory system physiology	55036	CCDC40	OMIM:613808
HP:0002795	Abnormal respiratory system physiology	339829	CCDC39	OMIM:613807
HP:0002795	Abnormal respiratory system physiology	10558	SPTLC1	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	25923	ATL3	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	9517	SPTLC2	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	51062	ATL1	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	1770	DNAH9	OMIM:618300
HP:0002795	Abnormal respiratory system physiology	54914	FOCAD	OMIM:619991
HP:0002795	Abnormal respiratory system physiology	4519	MT-CYB	ORPHA:137675
HP:0002795	Abnormal respiratory system physiology	64446	DNAI2	OMIM:612444
HP:0002795	Abnormal respiratory system physiology	6049	RNF6	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	7048	TGFBR2	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	51741	WWOX	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	9940	DLEC1	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	10056	FARSB	OMIM:613658
HP:0002795	Abnormal respiratory system physiology	10585	POMT1	ORPHA:86812
HP:0002795	Abnormal respiratory system physiology	1314	COPA	OMIM:616414
HP:0002795	Abnormal respiratory system physiology	10342	TFG	ORPHA:90117
HP:0002795	Abnormal respiratory system physiology	8701	DNAH11	OMIM:611884
HP:0002795	Abnormal respiratory system physiology	3662	IRF4	ORPHA:3452
HP:0002795	Abnormal respiratory system physiology	10551	AGR2	OMIM:620233
HP:0002795	Abnormal respiratory system physiology	38	ACAT1	ORPHA:134
HP:0002795	Abnormal respiratory system physiology	2193	FARSA	OMIM:619013
HP:0002795	Abnormal respiratory system physiology	5557	PRIM1	OMIM:620005
HP:0002795	Abnormal respiratory system physiology	80025	PANK2	ORPHA:216866
HP:0002795	Abnormal respiratory system physiology	115948	ODAD3	OMIM:616037
HP:0002795	Abnormal respiratory system physiology	7080	NKX2-1	OMIM:610978
HP:0002795	Abnormal respiratory system physiology	1288	COL4A6	ORPHA:1018
HP:0002795	Abnormal respiratory system physiology	1287	COL4A5	ORPHA:1018
HP:0002795	Abnormal respiratory system physiology	6929	TCF3	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	973	CD79A	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	974	CD79B	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	3543	IGLL1	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	3507	IGHM	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	29760	BLNK	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	5295	PIK3R1	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	56262	LRRC8A	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	6595	SMARCA2	ORPHA:2728
HP:0002795	Abnormal respiratory system physiology	23729	SHPK	ORPHA:440713
HP:0002795	Abnormal respiratory system physiology	3284	HSD3B2	ORPHA:90791
HP:0002795	Abnormal respiratory system physiology	2584	GALK1	ORPHA:79237
HP:0002795	Abnormal respiratory system physiology	5332	PLCB4	OMIM:614669
HP:0002795	Abnormal respiratory system physiology	5332	PLCB4	ORPHA:137888
HP:0002795	Abnormal respiratory system physiology	1906	EDN1	ORPHA:137888
HP:0002795	Abnormal respiratory system physiology	2773	GNAI3	ORPHA:137888
HP:0002795	Abnormal respiratory system physiology	2773	GNAI3	OMIM:602483
HP:0002795	Abnormal respiratory system physiology	341208	HEPHL1	OMIM:261990
HP:0002795	Abnormal respiratory system physiology	83550	GPR101	OMIM:300942
HP:0002795	Abnormal respiratory system physiology	2990	GUSB	OMIM:253220
HP:0002795	Abnormal respiratory system physiology	3459	IFNGR1	OMIM:209950
HP:0002795	Abnormal respiratory system physiology	1616	DAXX	ORPHA:100075
HP:0002795	Abnormal respiratory system physiology	404672	GTF2H5	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	833	CARS1	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	7737	RNF113A	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	136647	MPLKIP	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	6897	TARS1	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	2071	ERCC3	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	2961	GTF2E2	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	695	BTK	OMIM:300755
HP:0002795	Abnormal respiratory system physiology	2214	FCGR3A	OMIM:615707
HP:0002795	Abnormal respiratory system physiology	6440	SFTPC	ORPHA:70587
HP:0002795	Abnormal respiratory system physiology	21	ABCA3	ORPHA:70587
HP:0002795	Abnormal respiratory system physiology	6439	SFTPB	ORPHA:70587
HP:0002795	Abnormal respiratory system physiology	2022	ENG	OMIM:187300
HP:0002795	Abnormal respiratory system physiology	4771	NF2	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6598	SMARCB1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	5155	PDGFB	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	84231	TRAF7	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6608	SMO	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	207	AKT1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	5290	PIK3CA	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6605	SMARCE1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6521	SLC4A1	ORPHA:3202
HP:0002795	Abnormal respiratory system physiology	9780	PIEZO1	ORPHA:3202
HP:0002795	Abnormal respiratory system physiology	23568	ARL2BP	OMIM:615434
HP:0002795	Abnormal respiratory system physiology	6720	SREBF1	OMIM:158310
HP:0002795	Abnormal respiratory system physiology	6335	SCN9A	OMIM:167400
HP:0002795	Abnormal respiratory system physiology	7161	TP73	OMIM:619466
HP:0002795	Abnormal respiratory system physiology	246176	GAS2L2	OMIM:618449
HP:0002795	Abnormal respiratory system physiology	7125	TNNC2	OMIM:620161
HP:0002795	Abnormal respiratory system physiology	146862	UNC45B	OMIM:619178
HP:0002795	Abnormal respiratory system physiology	3714	JAG2	OMIM:619566
HP:0002795	Abnormal respiratory system physiology	89874	SLC25A21	OMIM:618811
HP:0002795	Abnormal respiratory system physiology	2212	FCGR2A	OMIM:219700
HP:0002795	Abnormal respiratory system physiology	7040	TGFB1	OMIM:219700
HP:0002795	Abnormal respiratory system physiology	1080	CFTR	OMIM:219700
HP:0002795	Abnormal respiratory system physiology	26092	TOR1AIP1	OMIM:617072
HP:0002795	Abnormal respiratory system physiology	154	ADRB2	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	240	ALOX5	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	7941	PLA2G7	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	6356	CCL11	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	7124	TNF	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3176	HNMT	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	4589	MUC7	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	117156	SCGB3A2	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3135	HLA-G	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3596	IL13	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	25790	CFAP45	OMIM:619608
HP:0002795	Abnormal respiratory system physiology	4359	MPZ	OMIM:607736
HP:0002795	Abnormal respiratory system physiology	85452	CFAP74	OMIM:620197
HP:0002795	Abnormal respiratory system physiology	5971	RELB	OMIM:617585
HP:0002795	Abnormal respiratory system physiology	6609	SMPD1	OMIM:607616
HP:0002795	Abnormal respiratory system physiology	64131	XYLT1	OMIM:264800
HP:0002795	Abnormal respiratory system physiology	64132	XYLT2	OMIM:264800
HP:0002795	Abnormal respiratory system physiology	368	ABCC6	OMIM:264800
HP:0002795	Abnormal respiratory system physiology	26277	TINF2	OMIM:613990
HP:0002795	Abnormal respiratory system physiology	137682	NDUFAF6	OMIM:618913
HP:0011001	Increased bone mineral density	6448	SGSH	OMIM:252900
HP:0011001	Increased bone mineral density	138050	HGSNAT	OMIM:252930
HP:0011001	Increased bone mineral density	4669	NAGLU	OMIM:252920
HP:0011001	Increased bone mineral density	3930	LBR	OMIM:215140
HP:0011001	Increased bone mineral density	23387	SIK3	OMIM:618162
HP:0011001	Increased bone mineral density	54	ACP5	OMIM:607944
HP:0011001	Increased bone mineral density	4854	NOTCH3	OMIM:130720
HP:0011001	Increased bone mineral density	79639	TMEM53	OMIM:619727
HP:0011001	Increased bone mineral density	6885	MAP3K7	ORPHA:1826
HP:0011001	Increased bone mineral density	388015	RTL1	ORPHA:96334
HP:0011001	Increased bone mineral density	8788	DLK1	ORPHA:96334
HP:0011001	Increased bone mineral density	55384	MEG3	ORPHA:96334
HP:0011001	Increased bone mineral density	8792	TNFRSF11A	OMIM:602080
HP:0011001	Increased bone mineral density	4000	LMNA	ORPHA:79474
HP:0011001	Increased bone mineral density	10568	SLC34A2	ORPHA:60025
HP:0011001	Increased bone mineral density	23592	LEMD3	ORPHA:166119
HP:0011001	Increased bone mineral density	55733	HHAT	ORPHA:1422
HP:0011001	Increased bone mineral density	5934	RBL2	OMIM:619690
HP:0011001	Increased bone mineral density	1436	CSF1R	OMIM:618476
HP:0011001	Increased bone mineral density	28962	OSTM1	ORPHA:85179
HP:0011001	Increased bone mineral density	7415	VCP	ORPHA:329475
HP:0011001	Increased bone mineral density	203859	ANO5	OMIM:166260
HP:0011001	Increased bone mineral density	6905	TBCE	OMIM:244460
HP:0011001	Increased bone mineral density	6905	TBCE	ORPHA:93324
HP:0011001	Increased bone mineral density	8905	AP1S2	OMIM:304340
HP:0011001	Increased bone mineral density	9365	KL	OMIM:617994
HP:0011001	Increased bone mineral density	1855	DVL1	OMIM:616331
HP:0011001	Increased bone mineral density	9791	PTDSS1	OMIM:151050
HP:0011001	Increased bone mineral density	10312	TCIRG1	ORPHA:210110
HP:0011001	Increased bone mineral density	1186	CLCN7	ORPHA:210110
HP:0011001	Increased bone mineral density	9842	PLEKHM1	ORPHA:210110
HP:0011001	Increased bone mineral density	6522	SLC4A2	OMIM:620366
HP:0011001	Increased bone mineral density	50964	SOST	OMIM:122860
HP:0011001	Increased bone mineral density	8878	SQSTM1	OMIM:167250
HP:0011001	Increased bone mineral density	4507	MTAP	OMIM:112250
HP:0011001	Increased bone mineral density	2778	GNAS	ORPHA:94089
HP:0011001	Increased bone mineral density	8675	STX16	ORPHA:94089
HP:0011001	Increased bone mineral density	23516	SLC39A14	OMIM:144755
HP:0011001	Increased bone mineral density	5251	PHEX	ORPHA:89936
HP:0011001	Increased bone mineral density	26040	SETBP1	OMIM:269150
HP:0011001	Increased bone mineral density	10682	EBP	OMIM:302960
HP:0011001	Increased bone mineral density	2074	ERCC6	OMIM:133540
HP:0011001	Increased bone mineral density	1161	ERCC8	OMIM:216400
HP:0011001	Increased bone mineral density	4796	TONSL	ORPHA:93357
HP:0011001	Increased bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0011001	Increased bone mineral density	7227	TRPS1	OMIM:190350
HP:0011001	Increased bone mineral density	10847	SRCAP	OMIM:136140
HP:0011001	Increased bone mineral density	8091	HMGA2	ORPHA:94063
HP:0011001	Increased bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0011001	Increased bone mineral density	189	AGXT	OMIM:259900
HP:0011001	Increased bone mineral density	6804	STX1A	ORPHA:904
HP:0011001	Increased bone mineral density	7461	CLIP2	ORPHA:904
HP:0011001	Increased bone mineral density	84277	DNAJC30	ORPHA:904
HP:0011001	Increased bone mineral density	8468	FKBP6	ORPHA:904
HP:0011001	Increased bone mineral density	5982	RFC2	ORPHA:904
HP:0011001	Increased bone mineral density	2969	GTF2I	ORPHA:904
HP:0011001	Increased bone mineral density	3984	LIMK1	ORPHA:904
HP:0011001	Increased bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0011001	Increased bone mineral density	155382	VPS37D	ORPHA:904
HP:0011001	Increased bone mineral density	155368	METTL27	ORPHA:904
HP:0011001	Increased bone mineral density	114049	BUD23	ORPHA:904
HP:0011001	Increased bone mineral density	7458	EIF4H	ORPHA:904
HP:0011001	Increased bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0011001	Increased bone mineral density	9275	BCL7B	ORPHA:904
HP:0011001	Increased bone mineral density	26608	TBL2	ORPHA:904
HP:0011001	Increased bone mineral density	653361	NCF1	ORPHA:904
HP:0011001	Increased bone mineral density	135886	TMEM270	ORPHA:904
HP:0011001	Increased bone mineral density	51085	MLXIPL	ORPHA:904
HP:0011001	Increased bone mineral density	9031	BAZ1B	ORPHA:904
HP:0011001	Increased bone mineral density	2006	ELN	ORPHA:904
HP:0011001	Increased bone mineral density	6916	TBXAS1	OMIM:231095
HP:0011001	Increased bone mineral density	1836	SLC26A2	ORPHA:628
HP:0011001	Increased bone mineral density	7486	WRN	ORPHA:902
HP:0011001	Increased bone mineral density	1747	DLX3	OMIM:190320
HP:0011001	Increased bone mineral density	1747	DLX3	ORPHA:3352
HP:0011001	Increased bone mineral density	56975	FAM20C	OMIM:259775
HP:0011001	Increased bone mineral density	9663	LPIN2	ORPHA:77297
HP:0011001	Increased bone mineral density	5604	MAP2K1	OMIM:155950
HP:0011001	Increased bone mineral density	1513	CTSK	OMIM:265800
HP:0011001	Increased bone mineral density	1513	CTSK	ORPHA:763
HP:0011001	Increased bone mineral density	1758	DMP1	ORPHA:289176
HP:0011001	Increased bone mineral density	1758	DMP1	OMIM:241520
HP:0011001	Increased bone mineral density	5167	ENPP1	ORPHA:289176
HP:0011001	Increased bone mineral density	7040	TGFB1	OMIM:131300
HP:0011001	Increased bone mineral density	4160	MC4R	OMIM:618406
HP:0011001	Increased bone mineral density	55315	SLC29A3	ORPHA:1782
HP:0011001	Increased bone mineral density	2961	GTF2E2	OMIM:616943
HP:0011001	Increased bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0011001	Increased bone mineral density	63901	FAM111A	OMIM:127000
HP:0011001	Increased bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0011001	Increased bone mineral density	833	CARS1	ORPHA:33364
HP:0011001	Increased bone mineral density	2068	ERCC2	ORPHA:33364
HP:0011001	Increased bone mineral density	7737	RNF113A	ORPHA:33364
HP:0011001	Increased bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0011001	Increased bone mineral density	6897	TARS1	ORPHA:33364
HP:0011001	Increased bone mineral density	2071	ERCC3	ORPHA:33364
HP:0011001	Increased bone mineral density	3339	HSPG2	ORPHA:800
HP:0011001	Increased bone mineral density	4982	TNFRSF11B	OMIM:239000
HP:0011001	Increased bone mineral density	4038	LRP4	ORPHA:3152
HP:0011001	Increased bone mineral density	2629	GBA1	ORPHA:77261
HP:0011001	Increased bone mineral density	2629	GBA1	ORPHA:77259
HP:0011001	Increased bone mineral density	860	RUNX2	OMIM:119600
HP:0011001	Increased bone mineral density	5745	PTH1R	ORPHA:50945
HP:0011001	Increased bone mineral density	649	BMP1	OMIM:614856
HP:0011001	Increased bone mineral density	2316	FLNA	ORPHA:90650
HP:0011001	Increased bone mineral density	2316	FLNA	ORPHA:90652
HP:0011001	Increased bone mineral density	950	SCARB2	ORPHA:77259
HP:0011001	Increased bone mineral density	1718	DHCR24	ORPHA:35107
HP:0011001	Increased bone mineral density	29887	SNX10	OMIM:615085
HP:0011001	Increased bone mineral density	29887	SNX10	ORPHA:667
HP:0011001	Increased bone mineral density	2697	GJA1	ORPHA:1522
HP:0011001	Increased bone mineral density	56172	ANKH	ORPHA:1522
HP:0011001	Increased bone mineral density	83706	FERMT3	OMIM:612840
HP:0011001	Increased bone mineral density	4286	MITF	OMIM:617306
HP:0011001	Increased bone mineral density	139285	AMER1	ORPHA:2780
HP:0011001	Increased bone mineral density	760	CA2	OMIM:259730
HP:0011001	Increased bone mineral density	760	CA2	ORPHA:2785
HP:0011001	Increased bone mineral density	8600	TNFSF11	OMIM:259710
HP:0011001	Increased bone mineral density	8600	TNFSF11	ORPHA:667
HP:0011001	Increased bone mineral density	55768	NGLY1	ORPHA:404454
HP:0011001	Increased bone mineral density	4041	LRP5	ORPHA:2790
HP:0011001	Increased bone mineral density	4041	LRP5	OMIM:144750
HP:0011001	Increased bone mineral density	79705	LRRK1	OMIM:615198
HP:0002797	Osteolysis	4313	MMP2	ORPHA:371428
HP:0002797	Osteolysis	4313	MMP2	OMIM:259600
HP:0002797	Osteolysis	4323	MMP14	ORPHA:371428
HP:0002797	Osteolysis	4323	MMP14	OMIM:277950
HP:0002797	Osteolysis	9935	MAFB	OMIM:166300
HP:0002797	Osteolysis	9935	MAFB	ORPHA:2774
HP:0002797	Osteolysis	1281	COL3A1	OMIM:130050
HP:0002797	Osteolysis	6335	SCN9A	ORPHA:970
HP:0002797	Osteolysis	6335	SCN9A	OMIM:201300
HP:0002797	Osteolysis	65125	WNK1	ORPHA:970
HP:0002797	Osteolysis	65125	WNK1	OMIM:201300
HP:0002797	Osteolysis	54463	RETREG1	ORPHA:970
HP:0002797	Osteolysis	54463	RETREG1	OMIM:201300
HP:0002797	Osteolysis	547	KIF1A	ORPHA:970
HP:0002797	Osteolysis	547	KIF1A	OMIM:201300
HP:0002797	Osteolysis	4853	NOTCH2	OMIM:102500
HP:0002797	Osteolysis	10269	ZMPSTE24	OMIM:608612
HP:0002797	Osteolysis	10269	ZMPSTE24	ORPHA:90154
HP:0002797	Osteolysis	1499	CTNNB1	ORPHA:873
HP:0002797	Osteolysis	324	APC	ORPHA:873
HP:0002797	Osteolysis	171023	ASXL1	ORPHA:98850
HP:0002797	Osteolysis	54790	TET2	ORPHA:98850
HP:0002797	Osteolysis	867	CBL	ORPHA:98850
HP:0002797	Osteolysis	861	RUNX1	ORPHA:98850
HP:0002797	Osteolysis	6427	SRSF2	ORPHA:98850
HP:0002797	Osteolysis	7421	VDR	ORPHA:93160
HP:0002797	Osteolysis	538	ATP7A	ORPHA:198
HP:0002797	Osteolysis	8518	ELP1	ORPHA:1764
HP:0002797	Osteolysis	285590	SH3PXD2B	ORPHA:137834
HP:0002797	Osteolysis	7157	TP53	ORPHA:668
HP:0002797	Osteolysis	5925	RB1	ORPHA:668
HP:0002797	Osteolysis	11200	CHEK2	ORPHA:668
HP:0002797	Osteolysis	8517	IKBKG	ORPHA:464
HP:0002797	Osteolysis	4125	MAN2B1	ORPHA:309282
HP:0002797	Osteolysis	8792	TNFRSF11A	OMIM:174810
HP:0002797	Osteolysis	8792	TNFRSF11A	OMIM:602080
HP:0002797	Osteolysis	63916	ELMO2	ORPHA:3019
HP:0002797	Osteolysis	8878	SQSTM1	OMIM:167250
HP:0002797	Osteolysis	3557	IL1RN	OMIM:612852
HP:0002797	Osteolysis	51360	MBTPS2	ORPHA:659
HP:0002797	Osteolysis	162514	TRPV3	ORPHA:659
HP:0002797	Osteolysis	64065	PERP	ORPHA:659
HP:0002797	Osteolysis	3178	HNRNPA1	ORPHA:52430
HP:0002797	Osteolysis	7415	VCP	ORPHA:52430
HP:0002797	Osteolysis	3181	HNRNPA2B1	ORPHA:52430
HP:0002797	Osteolysis	4221	MEN1	ORPHA:652
HP:0002797	Osteolysis	1027	CDKN1B	ORPHA:652
HP:0002797	Osteolysis	1026	CDKN1A	ORPHA:652
HP:0002797	Osteolysis	1030	CDKN2B	ORPHA:652
HP:0002797	Osteolysis	1031	CDKN2C	ORPHA:652
HP:0002797	Osteolysis	4854	NOTCH3	ORPHA:2591
HP:0002797	Osteolysis	26137	ZBTB20	ORPHA:3042
HP:0002797	Osteolysis	5745	PTH1R	ORPHA:296
HP:0002797	Osteolysis	3418	IDH2	ORPHA:296
HP:0002797	Osteolysis	3418	IDH2	ORPHA:163634
HP:0002797	Osteolysis	3417	IDH1	ORPHA:296
HP:0002797	Osteolysis	3417	IDH1	ORPHA:163634
HP:0002797	Osteolysis	2706	GJB2	ORPHA:494
HP:0002797	Osteolysis	7390	UROS	OMIM:263700
HP:0002797	Osteolysis	7390	UROS	ORPHA:79277
HP:0002797	Osteolysis	2260	FGFR1	ORPHA:2396
HP:0002797	Osteolysis	3845	KRAS	ORPHA:2396
HP:0002797	Osteolysis	6578	SLCO2A1	ORPHA:2796
HP:0002797	Osteolysis	7389	UROD	ORPHA:95159
HP:0002797	Osteolysis	2629	GBA1	ORPHA:77261
HP:0002797	Osteolysis	2629	GBA1	ORPHA:77259
HP:0002797	Osteolysis	9184	BUB3	ORPHA:1052
HP:0002797	Osteolysis	699	BUB1	ORPHA:1052
HP:0002797	Osteolysis	9702	CEP57	ORPHA:1052
HP:0002797	Osteolysis	9319	TRIP13	ORPHA:1052
HP:0002797	Osteolysis	701	BUB1B	ORPHA:1052
HP:0002797	Osteolysis	118429	ANTXR2	OMIM:228600
HP:0002797	Osteolysis	118429	ANTXR2	ORPHA:2028
HP:0002797	Osteolysis	55315	SLC29A3	ORPHA:168569
HP:0002797	Osteolysis	1235	CCR6	ORPHA:220393
HP:0002797	Osteolysis	1490	CCN2	ORPHA:220393
HP:0002797	Osteolysis	3663	IRF5	ORPHA:220393
HP:0002797	Osteolysis	857	CAV1	ORPHA:220393
HP:0002797	Osteolysis	3123	HLA-DRB1	ORPHA:220393
HP:0002797	Osteolysis	9487	PIGL	ORPHA:3474
HP:0002797	Osteolysis	2623	GATA1	ORPHA:79277
HP:0002797	Osteolysis	4763	NF1	ORPHA:97685
HP:0002797	Osteolysis	950	SCARB2	ORPHA:77259
HP:0002797	Osteolysis	64135	IFIH1	OMIM:182250
HP:0002797	Osteolysis	4000	LMNA	ORPHA:280365
HP:0002797	Osteolysis	4000	LMNA	ORPHA:79474
HP:0002797	Osteolysis	1075	CTSC	OMIM:245010
HP:0002797	Osteolysis	10651	MTX2	OMIM:619127
HP:0002797	Osteolysis	4921	DDR2	OMIM:618175
HP:0002797	Osteolysis	23586	RIGI	OMIM:616298
HP:0002797	Osteolysis	25923	ATL3	OMIM:615632
HP:0002797	Osteolysis	427	ASAH1	OMIM:228000
HP:0002797	Osteolysis	2316	FLNA	OMIM:309350
HP:0002797	Osteolysis	2316	FLNA	ORPHA:2484
HP:0002797	Osteolysis	3248	HPGD	OMIM:259100
HP:0002797	Osteolysis	1513	CTSK	ORPHA:763
HP:0002797	Osteolysis	1513	CTSK	OMIM:265800
HP:0002797	Osteolysis	8815	BANF1	OMIM:614008
HP:0002797	Osteolysis	5159	PDGFRB	OMIM:601812
HP:0009959	Duplication of phalanx of 3rd finger	7291	TWIST1	OMIM:101400
HP:0009959	Duplication of phalanx of 3rd finger	2263	FGFR2	OMIM:101400
HP:0009959	Duplication of phalanx of 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009958	Polydactyly affecting the 3rd finger	2737	GLI3	ORPHA:672
HP:0009958	Polydactyly affecting the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009958	Polydactyly affecting the 3rd finger	2263	FGFR2	OMIM:101400
HP:0009958	Polydactyly affecting the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009956	Partial duplication of the phalanges of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009956	Partial duplication of the phalanges of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009960	Complete duplication of the phalanges of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009961	Partial duplication of the phalanges of the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009961	Partial duplication of the phalanges of the 3rd finger	2263	FGFR2	OMIM:101400
HP:0009961	Partial duplication of the phalanges of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009962	Duplication of the distal phalanx of the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009962	Duplication of the distal phalanx of the 3rd finger	2263	FGFR2	OMIM:101400
HP:0009963	Duplication of the middle phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009964	Duplication of the proximal phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	2263	FGFR2	OMIM:101400
HP:0025605	Lid lag on downgaze	1180	CLCN1	OMIM:160800
HP:0025605	Lid lag on downgaze	1180	CLCN1	OMIM:255700
HP:0025607	Upper eyelid entropion	5518	PPP2R1A	ORPHA:457284
HP:0025608	Cicatricial ectropion	19	ABCA1	OMIM:205400
HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009971	Polydactyly affecting the 4th finger	2737	GLI3	ORPHA:672
HP:0025610	Posterior blepharitis	51360	MBTPS2	OMIM:300918
HP:0025610	Posterior blepharitis	10804	GJB6	ORPHA:477
HP:0025610	Posterior blepharitis	2706	GJB2	ORPHA:477
HP:0025610	Posterior blepharitis	6720	SREBF1	OMIM:619016
HP:0025610	Posterior blepharitis	7390	UROS	ORPHA:79277
HP:0025610	Posterior blepharitis	2623	GATA1	ORPHA:79277
HP:0025610	Posterior blepharitis	7389	UROD	ORPHA:95159
HP:0025612	Corneal astigmatism	5308	PITX2	OMIM:180550
HP:0025613	Focal emotional seizure	6608	SMO	OMIM:241800
HP:0025613	Focal emotional seizure	2737	GLI3	ORPHA:672
HP:0025613	Focal emotional seizure	55690	PACS1	ORPHA:329224
HP:0025613	Focal emotional seizure	26227	PHGDH	ORPHA:79351
HP:0025613	Focal emotional seizure	55768	NGLY1	ORPHA:404454
HP:0025613	Focal emotional seizure	10588	MTHFS	OMIM:618367
HP:0025613	Focal emotional seizure	2902	GRIN1	ORPHA:208447
HP:0025613	Focal emotional seizure	10991	SLC38A3	OMIM:619881
HP:0025615	Abscess	4688	NCF2	OMIM:233710
HP:0025615	Abscess	81839	VANGL1	OMIM:600145
HP:0025615	Abscess	3507	IGHM	OMIM:601495
HP:0025615	Abscess	3689	ITGB2	OMIM:116920
HP:0025615	Abscess	1536	CYBB	OMIM:306400
HP:0025615	Abscess	5297	PI4KA	ORPHA:436252
HP:0025615	Abscess	57217	TTC7A	ORPHA:436252
HP:0025615	Abscess	653361	NCF1	OMIM:233700
HP:0025615	Abscess	1535	CYBA	OMIM:233690
HP:0025615	Abscess	5880	RAC2	OMIM:608203
HP:0025615	Abscess	2000	ELF4	OMIM:301074
HP:0025615	Abscess	7040	TGFB1	OMIM:618213
HP:0025615	Abscess	92579	G6PC3	OMIM:612541
HP:0025615	Abscess	3587	IL10RA	OMIM:613148
HP:0025615	Abscess	22806	IKZF3	OMIM:619437
HP:0025615	Abscess	3588	IL10RB	OMIM:612567
HP:0025615	Abscess	8737	RIPK1	OMIM:618108
HP:0025615	Abscess	3110	MNX1	OMIM:176450
HP:0025615	Abscess	567	B2M	OMIM:241600
HP:0025615	Abscess	641	BLM	ORPHA:125
HP:0025615	Abscess	9948	WDR1	OMIM:150550
HP:0025615	Abscess	4615	MYD88	OMIM:612260
HP:0025615	Abscess	3557	IL1RN	OMIM:612852
HP:0025615	Abscess	3932	LCK	OMIM:615758
HP:0025615	Abscess	9051	PSTPIP1	OMIM:604416
HP:0025615	Abscess	4210	MEFV	ORPHA:3243
HP:0025615	Abscess	4921	DDR2	OMIM:618175
HP:0025615	Abscess	94	ACVRL1	OMIM:600376
HP:0025615	Abscess	2022	ENG	OMIM:187300
HP:0025615	Abscess	2261	FGFR3	OMIM:616482
HP:0025615	Abscess	4914	NTRK1	ORPHA:642
HP:0025615	Abscess	5251	PHEX	ORPHA:89936
HP:0025615	Abscess	8074	FGF23	ORPHA:89937
HP:0025615	Abscess	1758	DMP1	ORPHA:289176
HP:0025615	Abscess	5167	ENPP1	ORPHA:289176
HP:0025615	Abscess	1991	ELANE	ORPHA:2686
HP:0025615	Abscess	1747	DLX3	ORPHA:3352
HP:0025615	Abscess	84905	ZNF341	OMIM:618282
HP:0025615	Abscess	219972	MPEG1	OMIM:619223
HP:0025615	Abscess	6774	STAT3	OMIM:147060
HP:0025615	Abscess	3572	IL6ST	OMIM:619752
HP:0025615	Abscess	146206	CARMIL2	OMIM:618131
HP:0025615	Abscess	5238	PGM3	ORPHA:443811
HP:0025615	Abscess	3551	IKBKB	OMIM:618204
HP:0025615	Abscess	90268	OTULIN	OMIM:619986
HP:0025615	Abscess	3570	IL6R	OMIM:618944
HP:0025615	Abscess	23765	IL17RA	OMIM:613953
HP:0025615	Abscess	5244	ABCB4	ORPHA:69663
HP:0025615	Abscess	51135	IRAK4	OMIM:607676
HP:0025615	Abscess	3514	IGKC	ORPHA:183675
HP:0025615	Abscess	3501	IGHG2	ORPHA:183675
HP:0025615	Abscess	4689	NCF4	ORPHA:379
HP:0025615	Abscess	79415	CYBC1	ORPHA:379
HP:0025615	Abscess	5314	PKHD1	ORPHA:53035
HP:0025615	Abscess	1075	CTSC	ORPHA:678
HP:0025615	Abscess	672	BRCA1	ORPHA:1333
HP:0025615	Abscess	285282	RABL3	ORPHA:1333
HP:0025615	Abscess	7157	TP53	ORPHA:1333
HP:0025615	Abscess	675	BRCA2	ORPHA:1333
HP:0025615	Abscess	3845	KRAS	ORPHA:1333
HP:0025615	Abscess	1029	CDKN2A	ORPHA:1333
HP:0025615	Abscess	79728	PALB2	ORPHA:1333
HP:0025615	Abscess	4089	SMAD4	ORPHA:1333
HP:0025615	Abscess	23022	PALLD	ORPHA:1333
HP:0025615	Abscess	695	BTK	ORPHA:47
HP:0025615	Abscess	10804	GJB6	ORPHA:477
HP:0025615	Abscess	2706	GJB2	ORPHA:477
HP:0025615	Abscess	3937	LCP2	OMIM:619374
HP:0025615	Abscess	7319	UBE2A	ORPHA:163956
HP:0025615	Abscess	55851	PSENEN	OMIM:613736
HP:0025615	Abscess	5663	PSEN1	OMIM:613737
HP:0025616	Sterile abscess	9051	PSTPIP1	OMIM:604416
HP:0025616	Sterile abscess	84905	ZNF341	OMIM:618282
HP:0025616	Sterile abscess	4210	MEFV	ORPHA:3243
HP:0025616	Sterile abscess	4921	DDR2	OMIM:618175
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:672
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:36
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:380
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:146510
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:175700
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:174200
HP:0001162	Postaxial hand polydactyly	6309	SC5D	ORPHA:46059
HP:0001162	Postaxial hand polydactyly	6309	SC5D	OMIM:607330
HP:0001162	Postaxial hand polydactyly	894	CCND2	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	894	CCND2	OMIM:615938
HP:0001162	Postaxial hand polydactyly	5296	PIK3R2	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	10000	AKT3	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	10000	AKT3	OMIM:615937
HP:0001162	Postaxial hand polydactyly	4750	NEK1	OMIM:263520
HP:0001162	Postaxial hand polydactyly	4750	NEK1	ORPHA:2751
HP:0001162	Postaxial hand polydactyly	26160	IFT172	OMIM:615630
HP:0001162	Postaxial hand polydactyly	26160	IFT172	ORPHA:474
HP:0001162	Postaxial hand polydactyly	26160	IFT172	OMIM:619471
HP:0001162	Postaxial hand polydactyly	26160	IFT172	ORPHA:110
HP:0001162	Postaxial hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0001162	Postaxial hand polydactyly	54585	LZTFL1	ORPHA:110
HP:0001162	Postaxial hand polydactyly	57539	WDR35	OMIM:613610
HP:0001162	Postaxial hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	8195	MKKS	OMIM:236700
HP:0001162	Postaxial hand polydactyly	8195	MKKS	ORPHA:110
HP:0001162	Postaxial hand polydactyly	8195	MKKS	ORPHA:2473
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	OMIM:608091
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	OMIM:603194
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	ORPHA:564
HP:0001162	Postaxial hand polydactyly	56623	INPP5E	OMIM:213300
HP:0001162	Postaxial hand polydactyly	56623	INPP5E	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	55593	OTUD5	OMIM:301056
HP:0001162	Postaxial hand polydactyly	374654	KIF7	ORPHA:36
HP:0001162	Postaxial hand polydactyly	374654	KIF7	OMIM:200990
HP:0001162	Postaxial hand polydactyly	374654	KIF7	OMIM:614120
HP:0001162	Postaxial hand polydactyly	374654	KIF7	ORPHA:2189
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	OMIM:216360
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	ORPHA:564
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	OMIM:607361
HP:0001162	Postaxial hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	55112	DYNC2I1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	57560	IFT80	ORPHA:474
HP:0001162	Postaxial hand polydactyly	57560	IFT80	OMIM:611263
HP:0001162	Postaxial hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	79659	DYNC2H1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	89891	DYNC2I2	ORPHA:474
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	OMIM:611561
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	OMIM:611560
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	83479	DDX59	OMIM:174300
HP:0001162	Postaxial hand polydactyly	83479	DDX59	ORPHA:2919
HP:0001162	Postaxial hand polydactyly	1717	DHCR7	ORPHA:818
HP:0001162	Postaxial hand polydactyly	1717	DHCR7	OMIM:270400
HP:0001162	Postaxial hand polydactyly	10225	CD96	OMIM:211750
HP:0001162	Postaxial hand polydactyly	6926	TBX3	ORPHA:3138
HP:0001162	Postaxial hand polydactyly	6926	TBX3	OMIM:181450
HP:0001162	Postaxial hand polydactyly	7476	WNT7A	OMIM:228930
HP:0001162	Postaxial hand polydactyly	84100	ARL6	OMIM:209900
HP:0001162	Postaxial hand polydactyly	84100	ARL6	ORPHA:110
HP:0001162	Postaxial hand polydactyly	79140	CCDC28B	OMIM:209900
HP:0001162	Postaxial hand polydactyly	582	BBS1	OMIM:209900
HP:0001162	Postaxial hand polydactyly	582	BBS1	ORPHA:110
HP:0001162	Postaxial hand polydactyly	51057	WDPCP	OMIM:217085
HP:0001162	Postaxial hand polydactyly	51057	WDPCP	ORPHA:110
HP:0001162	Postaxial hand polydactyly	3209	HOXA13	ORPHA:2438
HP:0001162	Postaxial hand polydactyly	3209	HOXA13	OMIM:176305
HP:0001162	Postaxial hand polydactyly	64093	SMOC1	ORPHA:1106
HP:0001162	Postaxial hand polydactyly	64093	SMOC1	OMIM:206920
HP:0001162	Postaxial hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001162	Postaxial hand polydactyly	84314	TMEM107	OMIM:617563
HP:0001162	Postaxial hand polydactyly	26123	TCTN3	ORPHA:564
HP:0001162	Postaxial hand polydactyly	26123	TCTN3	ORPHA:2753
HP:0001162	Postaxial hand polydactyly	79867	TCTN2	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79867	TCTN2	OMIM:616654
HP:0001162	Postaxial hand polydactyly	80776	B9D2	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80776	B9D2	OMIM:614175
HP:0001162	Postaxial hand polydactyly	79600	TCTN1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79848	CSPP1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80184	CEP290	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80184	CEP290	ORPHA:110
HP:0001162	Postaxial hand polydactyly	80184	CEP290	OMIM:611134
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	ORPHA:564
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	OMIM:612284
HP:0001162	Postaxial hand polydactyly	79583	TMEM231	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79583	TMEM231	ORPHA:2752
HP:0001162	Postaxial hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79770	TXNDC15	OMIM:619879
HP:0001162	Postaxial hand polydactyly	27077	B9D1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	54903	MKS1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	54903	MKS1	ORPHA:110
HP:0001162	Postaxial hand polydactyly	54903	MKS1	OMIM:249000
HP:0001162	Postaxial hand polydactyly	65062	TMEM237	ORPHA:564
HP:0001162	Postaxial hand polydactyly	285600	KIAA0825	OMIM:618498
HP:0001162	Postaxial hand polydactyly	8200	GDF5	OMIM:113100
HP:0001162	Postaxial hand polydactyly	8200	GDF5	OMIM:200700
HP:0001162	Postaxial hand polydactyly	8200	GDF5	ORPHA:2098
HP:0001162	Postaxial hand polydactyly	5147	PDE6D	OMIM:615665
HP:0001162	Postaxial hand polydactyly	51715	RAB23	ORPHA:65759
HP:0001162	Postaxial hand polydactyly	51715	RAB23	OMIM:201000
HP:0001162	Postaxial hand polydactyly	1954	MEGF8	ORPHA:65759
HP:0001162	Postaxial hand polydactyly	26005	C2CD3	OMIM:615948
HP:0001162	Postaxial hand polydactyly	26005	C2CD3	ORPHA:434179
HP:0001162	Postaxial hand polydactyly	26040	SETBP1	OMIM:269150
HP:0001162	Postaxial hand polydactyly	2121	EVC	ORPHA:952
HP:0001162	Postaxial hand polydactyly	2121	EVC	OMIM:193530
HP:0001162	Postaxial hand polydactyly	2121	EVC	OMIM:225500
HP:0001162	Postaxial hand polydactyly	132884	EVC2	ORPHA:952
HP:0001162	Postaxial hand polydactyly	132884	EVC2	OMIM:193530
HP:0001162	Postaxial hand polydactyly	132884	EVC2	OMIM:225500
HP:0001162	Postaxial hand polydactyly	153241	CEP120	ORPHA:474
HP:0001162	Postaxial hand polydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0001162	Postaxial hand polydactyly	9742	IFT140	ORPHA:474
HP:0001162	Postaxial hand polydactyly	9742	IFT140	OMIM:266920
HP:0001162	Postaxial hand polydactyly	57728	WDR19	ORPHA:474
HP:0001162	Postaxial hand polydactyly	79809	TTC21B	ORPHA:474
HP:0001162	Postaxial hand polydactyly	64840	PORCN	OMIM:305600
HP:0001162	Postaxial hand polydactyly	92482	BBIP1	ORPHA:110
HP:0001162	Postaxial hand polydactyly	11020	IFT27	ORPHA:110
HP:0001162	Postaxial hand polydactyly	49855	SCAPER	ORPHA:110
HP:0001162	Postaxial hand polydactyly	4867	NPHP1	ORPHA:110
HP:0001162	Postaxial hand polydactyly	27241	BBS9	ORPHA:110
HP:0001162	Postaxial hand polydactyly	27241	BBS9	OMIM:615986
HP:0001162	Postaxial hand polydactyly	84984	CEP19	ORPHA:110
HP:0001162	Postaxial hand polydactyly	22954	TRIM32	ORPHA:110
HP:0001162	Postaxial hand polydactyly	79738	BBS10	ORPHA:110
HP:0001162	Postaxial hand polydactyly	123016	TTC8	ORPHA:110
HP:0001162	Postaxial hand polydactyly	583	BBS2	ORPHA:110
HP:0001162	Postaxial hand polydactyly	583	BBS2	OMIM:615981
HP:0001162	Postaxial hand polydactyly	585	BBS4	ORPHA:110
HP:0001162	Postaxial hand polydactyly	55212	BBS7	ORPHA:110
HP:0001162	Postaxial hand polydactyly	166379	BBS12	ORPHA:110
HP:0001162	Postaxial hand polydactyly	166379	BBS12	OMIM:615989
HP:0001162	Postaxial hand polydactyly	10806	SDCCAG8	ORPHA:110
HP:0001162	Postaxial hand polydactyly	157657	CFAP418	ORPHA:110
HP:0001162	Postaxial hand polydactyly	157657	CFAP418	OMIM:617406
HP:0001162	Postaxial hand polydactyly	129880	BBS5	ORPHA:110
HP:0001162	Postaxial hand polydactyly	80173	IFT74	ORPHA:110
HP:0001162	Postaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0001162	Postaxial hand polydactyly	79005	SCNM1	OMIM:620107
HP:0001162	Postaxial hand polydactyly	6608	SMO	OMIM:241800
HP:0001162	Postaxial hand polydactyly	658	BMPR1B	ORPHA:2098
HP:0001162	Postaxial hand polydactyly	54499	TMCO1	OMIM:213980
HP:0001162	Postaxial hand polydactyly	2736	GLI2	OMIM:610829
HP:0001162	Postaxial hand polydactyly	51360	MBTPS2	OMIM:308205
HP:0001162	Postaxial hand polydactyly	51360	MBTPS2	ORPHA:85284
HP:0001162	Postaxial hand polydactyly	8481	OFD1	OMIM:300209
HP:0001162	Postaxial hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001162	Postaxial hand polydactyly	64327	LMBR1	OMIM:174500
HP:0001162	Postaxial hand polydactyly	80210	ARMC9	OMIM:617622
HP:0001162	Postaxial hand polydactyly	9373	PLAA	ORPHA:521426
HP:0001162	Postaxial hand polydactyly	2316	FLNA	OMIM:304120
HP:0001162	Postaxial hand polydactyly	3930	LBR	OMIM:215140
HP:0001162	Postaxial hand polydactyly	2239	GPC4	ORPHA:373
HP:0001162	Postaxial hand polydactyly	2239	GPC4	OMIM:312870
HP:0001162	Postaxial hand polydactyly	2719	GPC3	ORPHA:373
HP:0001162	Postaxial hand polydactyly	2719	GPC3	OMIM:312870
HP:0001162	Postaxial hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001162	Postaxial hand polydactyly	51684	SUFU	OMIM:617757
HP:0001162	Postaxial hand polydactyly	219844	HYLS1	OMIM:236680
HP:0001162	Postaxial hand polydactyly	219844	HYLS1	ORPHA:2189
HP:0001162	Postaxial hand polydactyly	257	ALX3	OMIM:136760
HP:0001162	Postaxial hand polydactyly	23288	IQCE	OMIM:617642
HP:0001162	Postaxial hand polydactyly	5567	PRKACB	OMIM:619143
HP:0001162	Postaxial hand polydactyly	137392	CIBAR1	OMIM:618219
HP:0001162	Postaxial hand polydactyly	7700	ZNF141	OMIM:615226
HP:0001162	Postaxial hand polydactyly	9851	KIAA0753	OMIM:617127
HP:0001162	Postaxial hand polydactyly	7046	TGFBR1	OMIM:609192
HP:0001162	Postaxial hand polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001162	Postaxial hand polydactyly	2263	FGFR2	OMIM:101200
HP:0009998	Complete duplication of phalanx of hand	64327	LMBR1	OMIM:174500
HP:0009998	Complete duplication of phalanx of hand	8200	GDF5	ORPHA:93384
HP:0009998	Complete duplication of phalanx of hand	658	BMPR1B	ORPHA:93384
HP:0009998	Complete duplication of phalanx of hand	51715	RAB23	OMIM:201000
HP:0009998	Complete duplication of phalanx of hand	22856	CHSY1	ORPHA:363417
HP:0009998	Complete duplication of phalanx of hand	2177	FANCD2	OMIM:227646
HP:0009998	Complete duplication of phalanx of hand	2176	FANCC	OMIM:227645
HP:0009998	Complete duplication of phalanx of hand	2178	FANCE	OMIM:600901
HP:0009998	Complete duplication of phalanx of hand	157570	ESCO2	ORPHA:3103
HP:0009998	Complete duplication of phalanx of hand	6472	SHMT2	OMIM:619121
HP:0009998	Complete duplication of phalanx of hand	8260	NAA10	ORPHA:568
HP:0009998	Complete duplication of phalanx of hand	54880	BCOR	ORPHA:568
HP:0009998	Complete duplication of phalanx of hand	2175	FANCA	OMIM:227650
HP:0009998	Complete duplication of phalanx of hand	23592	LEMD3	ORPHA:1879
HP:0009999	Partial duplication of the phalanx of hand	55012	PPP2R3C	OMIM:618419
HP:0009999	Partial duplication of the phalanx of hand	374654	KIF7	OMIM:200990
HP:0009999	Partial duplication of the phalanx of hand	5053	PAH	ORPHA:2209
HP:0009999	Partial duplication of the phalanx of hand	124583	CANT1	OMIM:251450
HP:0009999	Partial duplication of the phalanx of hand	100151683	RNU4ATAC	OMIM:210710
HP:0009999	Partial duplication of the phalanx of hand	2255	FGF10	OMIM:620193
HP:0009999	Partial duplication of the phalanx of hand	6910	TBX5	OMIM:142900
HP:0009999	Partial duplication of the phalanx of hand	6135	RPL11	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6138	RPL15	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6229	RPS24	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6125	RPL5	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6204	RPS10	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6224	RPS20	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6165	RPL35A	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	2623	GATA1	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6223	RPS19	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6223	RPS19	OMIM:105650
HP:0009999	Partial duplication of the phalanx of hand	6232	RPS27	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6231	RPS26	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	11224	RPL35	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6160	RPL31	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6218	RPS17	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6201	RPS7	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6155	RPL27	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6154	RPL26	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6210	RPS15A	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	90121	TSR2	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6141	RPL18	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6235	RPS29	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6234	RPS28	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	51816	ADA2	ORPHA:124
HP:0009999	Partial duplication of the phalanx of hand	6299	SALL1	OMIM:107480
HP:0009999	Partial duplication of the phalanx of hand	6299	SALL1	ORPHA:857
HP:0009999	Partial duplication of the phalanx of hand	2177	FANCD2	OMIM:227646
HP:0009999	Partial duplication of the phalanx of hand	57122	NUP107	OMIM:616730
HP:0009999	Partial duplication of the phalanx of hand	57122	NUP107	OMIM:618348
HP:0009999	Partial duplication of the phalanx of hand	2735	GLI1	OMIM:174400
HP:0009999	Partial duplication of the phalanx of hand	51339	DACT1	ORPHA:857
HP:0009999	Partial duplication of the phalanx of hand	10992	SF3B2	OMIM:164210
HP:0009999	Partial duplication of the phalanx of hand	27152	INTU	OMIM:617926
HP:0009999	Partial duplication of the phalanx of hand	7291	TWIST1	OMIM:101400
HP:0009999	Partial duplication of the phalanx of hand	2263	FGFR2	OMIM:101400
HP:0009999	Partial duplication of the phalanx of hand	22856	CHSY1	ORPHA:363417
HP:0009999	Partial duplication of the phalanx of hand	1855	DVL1	OMIM:616331
HP:0025630	Argininosuccinic aciduria	10165	SLC25A13	OMIM:603471
HP:0025631	Alpha-aminobutyric aciduria	54914	FOCAD	OMIM:619991
HP:0025632	Reduced reactive oxygen species production in neutrophils	3937	LCP2	OMIM:619374
HP:0025633	Abnormal ureter morphology	3655	ITGA6	ORPHA:79403
HP:0025633	Abnormal ureter morphology	3691	ITGB4	ORPHA:79403
HP:0025633	Abnormal ureter morphology	3691	ITGB4	ORPHA:158684
HP:0025633	Abnormal ureter morphology	3975	LHX1	ORPHA:261265
HP:0025633	Abnormal ureter morphology	6928	HNF1B	ORPHA:261265
HP:0025633	Abnormal ureter morphology	5339	PLEC	ORPHA:158684
HP:0025633	Abnormal ureter morphology	5190	PEX6	OMIM:614863
HP:0025633	Abnormal ureter morphology	10982	MAPRE2	OMIM:616734
HP:0025633	Abnormal ureter morphology	6792	CDKL5	ORPHA:1934
HP:0025633	Abnormal ureter morphology	3736	KCNA1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	9091	PIGQ	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2775	GNAO1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	81603	TRIM8	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2902	GRIN1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	79751	SLC25A22	ORPHA:1934
HP:0025633	Abnormal ureter morphology	150094	SIK1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	8573	CASK	ORPHA:1934
HP:0025633	Abnormal ureter morphology	23312	DMXL2	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2917	GRM7	ORPHA:1934
HP:0025633	Abnormal ureter morphology	170302	ARX	ORPHA:1934
HP:0025633	Abnormal ureter morphology	11284	PNKP	ORPHA:1934
HP:0025633	Abnormal ureter morphology	6326	SCN2A	ORPHA:1934
HP:0025633	Abnormal ureter morphology	51227	PIGP	ORPHA:1934
HP:0025633	Abnormal ureter morphology	6324	SCN1B	ORPHA:1934
HP:0025633	Abnormal ureter morphology	4761	NEUROD2	ORPHA:1934
HP:0025633	Abnormal ureter morphology	5337	PLD1	OMIM:212093
HP:0025633	Abnormal ureter morphology	9653	HS2ST1	OMIM:619194
HP:0025633	Abnormal ureter morphology	2294	FOXF1	OMIM:265380
HP:0025633	Abnormal ureter morphology	4638	MYLK	OMIM:249210
HP:0025633	Abnormal ureter morphology	4638	MYLK	ORPHA:2241
HP:0025633	Abnormal ureter morphology	8260	NAA10	OMIM:309800
HP:0025633	Abnormal ureter morphology	8260	NAA10	ORPHA:568
HP:0025633	Abnormal ureter morphology	54880	BCOR	OMIM:309800
HP:0025633	Abnormal ureter morphology	54880	BCOR	ORPHA:568
HP:0025633	Abnormal ureter morphology	51604	PIGT	OMIM:615398
HP:0025633	Abnormal ureter morphology	72	ACTG2	OMIM:619431
HP:0025633	Abnormal ureter morphology	72	ACTG2	ORPHA:2604
HP:0025633	Abnormal ureter morphology	72	ACTG2	ORPHA:2241
HP:0025633	Abnormal ureter morphology	54101	RIPK4	ORPHA:1401
HP:0025633	Abnormal ureter morphology	92002	CCNQ	OMIM:300707
HP:0025633	Abnormal ureter morphology	1161	ERCC8	ORPHA:90324
HP:0025633	Abnormal ureter morphology	2074	ERCC6	ORPHA:90324
HP:0025633	Abnormal ureter morphology	1909	EDNRA	OMIM:616367
HP:0025633	Abnormal ureter morphology	8195	MKKS	OMIM:236700
HP:0025633	Abnormal ureter morphology	1131	CHRM3	ORPHA:2970
HP:0025633	Abnormal ureter morphology	1131	CHRM3	OMIM:100100
HP:0025633	Abnormal ureter morphology	8626	TP63	OMIM:604292
HP:0025633	Abnormal ureter morphology	3909	LAMA3	ORPHA:79404
HP:0025633	Abnormal ureter morphology	3918	LAMC2	ORPHA:79404
HP:0025633	Abnormal ureter morphology	3914	LAMB3	ORPHA:79404
HP:0025633	Abnormal ureter morphology	554	AVPR2	ORPHA:223
HP:0025633	Abnormal ureter morphology	359	AQP2	ORPHA:223
HP:0025633	Abnormal ureter morphology	51715	RAB23	OMIM:201000
HP:0025633	Abnormal ureter morphology	25802	LMOD1	OMIM:619362
HP:0025633	Abnormal ureter morphology	25802	LMOD1	ORPHA:2241
HP:0025633	Abnormal ureter morphology	4629	MYH11	ORPHA:2241
HP:0025633	Abnormal ureter morphology	9126	SMC3	OMIM:610759
HP:0025633	Abnormal ureter morphology	56975	FAM20C	OMIM:259775
HP:0025633	Abnormal ureter morphology	9968	MED12	OMIM:301068
HP:0025633	Abnormal ureter morphology	2316	FLNA	OMIM:305620
HP:0025633	Abnormal ureter morphology	51360	MBTPS2	ORPHA:2273
HP:0025633	Abnormal ureter morphology	57492	ARID1B	OMIM:135900
HP:0025633	Abnormal ureter morphology	25915	NDUFAF3	OMIM:618240
HP:0025633	Abnormal ureter morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0025633	Abnormal ureter morphology	64321	SOX17	OMIM:613674
HP:0025633	Abnormal ureter morphology	672	BRCA1	ORPHA:84
HP:0025633	Abnormal ureter morphology	10459	MAD2L2	ORPHA:84
HP:0025633	Abnormal ureter morphology	7516	XRCC2	ORPHA:84
HP:0025633	Abnormal ureter morphology	29089	UBE2T	ORPHA:84
HP:0025633	Abnormal ureter morphology	675	BRCA2	ORPHA:84
HP:0025633	Abnormal ureter morphology	55120	FANCL	ORPHA:84
HP:0025633	Abnormal ureter morphology	2177	FANCD2	ORPHA:84
HP:0025633	Abnormal ureter morphology	2175	FANCA	ORPHA:84
HP:0025633	Abnormal ureter morphology	2187	FANCB	ORPHA:84
HP:0025633	Abnormal ureter morphology	2176	FANCC	ORPHA:84
HP:0025633	Abnormal ureter morphology	2178	FANCE	ORPHA:84
HP:0025633	Abnormal ureter morphology	2188	FANCF	ORPHA:84
HP:0025633	Abnormal ureter morphology	2189	FANCG	ORPHA:84
HP:0025633	Abnormal ureter morphology	5888	RAD51	ORPHA:84
HP:0025633	Abnormal ureter morphology	5889	RAD51C	ORPHA:84
HP:0025633	Abnormal ureter morphology	55159	RFWD3	ORPHA:84
HP:0025633	Abnormal ureter morphology	83990	BRIP1	ORPHA:84
HP:0025633	Abnormal ureter morphology	57697	FANCM	ORPHA:84
HP:0025633	Abnormal ureter morphology	79728	PALB2	ORPHA:84
HP:0025633	Abnormal ureter morphology	84464	SLX4	ORPHA:84
HP:0025633	Abnormal ureter morphology	2072	ERCC4	ORPHA:84
HP:0025633	Abnormal ureter morphology	55215	FANCI	ORPHA:84
HP:0025633	Abnormal ureter morphology	71	ACTG1	ORPHA:2995
HP:0025633	Abnormal ureter morphology	60	ACTB	ORPHA:2995
HP:0025633	Abnormal ureter morphology	5566	PRKACA	ORPHA:289
HP:0025633	Abnormal ureter morphology	5567	PRKACB	ORPHA:289
HP:0025633	Abnormal ureter morphology	2735	GLI1	ORPHA:289
HP:0025633	Abnormal ureter morphology	2121	EVC	ORPHA:289
HP:0025633	Abnormal ureter morphology	51626	DYNC2LI1	ORPHA:289
HP:0025633	Abnormal ureter morphology	132884	EVC2	ORPHA:289
HP:0025633	Abnormal ureter morphology	7466	WFS1	OMIM:222300
HP:0025633	Abnormal ureter morphology	166379	BBS12	OMIM:615989
HP:0025633	Abnormal ureter morphology	1642	DDB1	OMIM:619426
HP:0025633	Abnormal ureter morphology	6655	SOS2	OMIM:616559
HP:0025633	Abnormal ureter morphology	63895	PIEZO2	ORPHA:2461
HP:0025633	Abnormal ureter morphology	9096	TBX18	OMIM:143400
HP:0025633	Abnormal ureter morphology	26040	SETBP1	OMIM:269150
HP:0025633	Abnormal ureter morphology	60495	HPSE2	OMIM:236730
HP:0025633	Abnormal ureter morphology	2737	GLI3	OMIM:146510
HP:0025633	Abnormal ureter morphology	9361	LONP1	ORPHA:1458
HP:0025633	Abnormal ureter morphology	1376	CPT2	OMIM:608836
HP:0025633	Abnormal ureter morphology	23556	PIGN	OMIM:614080
HP:0025633	Abnormal ureter morphology	8312	AXIN1	OMIM:607864
HP:0025633	Abnormal ureter morphology	2239	GPC4	ORPHA:373
HP:0025633	Abnormal ureter morphology	2719	GPC3	ORPHA:373
HP:0025633	Abnormal ureter morphology	388662	SLC6A17	ORPHA:457212
HP:0025633	Abnormal ureter morphology	54892	NCAPG2	OMIM:618460
HP:0025633	Abnormal ureter morphology	145173	B3GLCT	OMIM:261540
HP:0025633	Abnormal ureter morphology	145173	B3GLCT	ORPHA:709
HP:0025633	Abnormal ureter morphology	4000	LMNA	ORPHA:1662
HP:0025633	Abnormal ureter morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025633	Abnormal ureter morphology	10269	ZMPSTE24	OMIM:275210
HP:0025633	Abnormal ureter morphology	284252	KCTD1	ORPHA:2036
HP:0025633	Abnormal ureter morphology	2627	GATA6	ORPHA:2255
HP:0025633	Abnormal ureter morphology	2627	GATA6	OMIM:600001
HP:0025633	Abnormal ureter morphology	5718	PSMD12	OMIM:617516
HP:0025633	Abnormal ureter morphology	9939	RBM8A	OMIM:274000
HP:0025633	Abnormal ureter morphology	4838	NODAL	OMIM:270100
HP:0025633	Abnormal ureter morphology	81839	VANGL1	ORPHA:3027
HP:0025633	Abnormal ureter morphology	80199	FUZ	ORPHA:3027
HP:0025633	Abnormal ureter morphology	64324	NSD1	ORPHA:821
HP:0025633	Abnormal ureter morphology	29072	SETD2	ORPHA:821
HP:0025633	Abnormal ureter morphology	10297	APC2	ORPHA:821
HP:0025633	Abnormal ureter morphology	10653	SPINT2	OMIM:270420
HP:0025633	Abnormal ureter morphology	84314	TMEM107	ORPHA:564
HP:0025633	Abnormal ureter morphology	26123	TCTN3	ORPHA:564
HP:0025633	Abnormal ureter morphology	79867	TCTN2	ORPHA:564
HP:0025633	Abnormal ureter morphology	80776	B9D2	ORPHA:564
HP:0025633	Abnormal ureter morphology	79600	TCTN1	ORPHA:564
HP:0025633	Abnormal ureter morphology	57096	RPGRIP1	ORPHA:564
HP:0025633	Abnormal ureter morphology	79848	CSPP1	ORPHA:564
HP:0025633	Abnormal ureter morphology	80184	CEP290	ORPHA:564
HP:0025633	Abnormal ureter morphology	51259	TMEM216	ORPHA:564
HP:0025633	Abnormal ureter morphology	57545	CC2D2A	ORPHA:564
HP:0025633	Abnormal ureter morphology	79583	TMEM231	ORPHA:564
HP:0025633	Abnormal ureter morphology	91147	TMEM67	ORPHA:564
HP:0025633	Abnormal ureter morphology	79770	TXNDC15	ORPHA:564
HP:0025633	Abnormal ureter morphology	27077	B9D1	ORPHA:564
HP:0025633	Abnormal ureter morphology	23322	RPGRIP1L	ORPHA:564
HP:0025633	Abnormal ureter morphology	54903	MKS1	ORPHA:564
HP:0025633	Abnormal ureter morphology	65062	TMEM237	ORPHA:564
HP:0025633	Abnormal ureter morphology	9742	IFT140	OMIM:266920
HP:0025633	Abnormal ureter morphology	6654	SOS1	OMIM:610733
HP:0025633	Abnormal ureter morphology	55191	NADSYN1	OMIM:618845
HP:0025633	Abnormal ureter morphology	57724	EPG5	ORPHA:1493
HP:0025633	Abnormal ureter morphology	27031	NPHP3	OMIM:208540
HP:0025633	Abnormal ureter morphology	23426	GRIP1	OMIM:617667
HP:0025633	Abnormal ureter morphology	341640	FREM2	OMIM:617666
HP:0025633	Abnormal ureter morphology	55165	CEP55	OMIM:236500
HP:0025633	Abnormal ureter morphology	80781	COL18A1	OMIM:267750
HP:0025633	Abnormal ureter morphology	80781	COL18A1	ORPHA:1571
HP:0025633	Abnormal ureter morphology	9158	FIBP	OMIM:617107
HP:0025633	Abnormal ureter morphology	9158	FIBP	ORPHA:500095
HP:0025633	Abnormal ureter morphology	64840	PORCN	OMIM:305600
HP:0025633	Abnormal ureter morphology	5062	PAK2	ORPHA:1571
HP:0025633	Abnormal ureter morphology	5087	PBX1	OMIM:617641
HP:0025633	Abnormal ureter morphology	9928	KIF14	OMIM:616258
HP:0025633	Abnormal ureter morphology	79796	ALG9	ORPHA:79328
HP:0025633	Abnormal ureter morphology	353	APRT	OMIM:614723
HP:0025633	Abnormal ureter morphology	5631	PRPS1	OMIM:300661
HP:0025633	Abnormal ureter morphology	116085	SLC22A12	OMIM:220150
HP:0025634	Abnormal ureter physiology	1009	CDH11	ORPHA:1299
HP:0025634	Abnormal ureter physiology	1493	CTLA4	ORPHA:900
HP:0025634	Abnormal ureter physiology	26191	PTPN22	ORPHA:900
HP:0025634	Abnormal ureter physiology	3115	HLA-DPB1	ORPHA:900
HP:0025634	Abnormal ureter physiology	5657	PRTN3	ORPHA:900
HP:0025634	Abnormal ureter physiology	3113	HLA-DPA1	ORPHA:900
HP:0025634	Abnormal ureter physiology	26040	SETBP1	OMIM:269150
HP:0025634	Abnormal ureter physiology	4838	NODAL	OMIM:270100
HP:0025634	Abnormal ureter physiology	51604	PIGT	OMIM:615398
HP:0025634	Abnormal ureter physiology	7528	YY1	ORPHA:506358
HP:0025634	Abnormal ureter physiology	7528	YY1	OMIM:617557
HP:0025634	Abnormal ureter physiology	7355	SLC35A2	OMIM:300896
HP:0025634	Abnormal ureter physiology	6928	HNF1B	OMIM:137920
HP:0025634	Abnormal ureter physiology	9487	PIGL	OMIM:280000
HP:0025634	Abnormal ureter physiology	1717	DHCR7	OMIM:270400
HP:0025634	Abnormal ureter physiology	1717	DHCR7	ORPHA:818
HP:0025634	Abnormal ureter physiology	2972	BRF1	ORPHA:444072
HP:0025634	Abnormal ureter physiology	2782	GNB1	OMIM:616973
HP:0025634	Abnormal ureter physiology	10861	SLC26A1	OMIM:167030
HP:0025634	Abnormal ureter physiology	8085	KMT2D	ORPHA:2322
HP:0025634	Abnormal ureter physiology	8085	KMT2D	OMIM:147920
HP:0025634	Abnormal ureter physiology	7403	KDM6A	ORPHA:2322
HP:0025634	Abnormal ureter physiology	7403	KDM6A	OMIM:147920
HP:0025634	Abnormal ureter physiology	4654	MYOD1	OMIM:618975
HP:0025634	Abnormal ureter physiology	9096	TBX18	OMIM:143400
HP:0025634	Abnormal ureter physiology	25970	SH2B1	ORPHA:261222
HP:0025634	Abnormal ureter physiology	5076	PAX2	ORPHA:97362
HP:0025634	Abnormal ureter physiology	5076	PAX2	ORPHA:1475
HP:0025634	Abnormal ureter physiology	5076	PAX2	OMIM:120330
HP:0025634	Abnormal ureter physiology	5087	PBX1	ORPHA:97362
HP:0025634	Abnormal ureter physiology	5087	PBX1	OMIM:617641
HP:0025634	Abnormal ureter physiology	10617	STAMBP	OMIM:614261
HP:0025634	Abnormal ureter physiology	8294	H4C9	OMIM:619951
HP:0025634	Abnormal ureter physiology	2138	EYA1	OMIM:113650
HP:0025634	Abnormal ureter physiology	2138	EYA1	ORPHA:107
HP:0025634	Abnormal ureter physiology	6495	SIX1	OMIM:113650
HP:0025634	Abnormal ureter physiology	6495	SIX1	OMIM:605192
HP:0025634	Abnormal ureter physiology	6495	SIX1	ORPHA:107
HP:0025634	Abnormal ureter physiology	54892	NCAPG2	OMIM:618460
HP:0025634	Abnormal ureter physiology	9860	LRIG2	OMIM:615112
HP:0025634	Abnormal ureter physiology	9860	LRIG2	ORPHA:2704
HP:0025634	Abnormal ureter physiology	26128	KIFBP	OMIM:609460
HP:0025634	Abnormal ureter physiology	23556	PIGN	ORPHA:2059
HP:0025634	Abnormal ureter physiology	23556	PIGN	OMIM:614080
HP:0025634	Abnormal ureter physiology	1788	DNMT3A	OMIM:615879
HP:0025634	Abnormal ureter physiology	5361	PLXNA1	OMIM:619955
HP:0025634	Abnormal ureter physiology	3209	HOXA13	OMIM:140000
HP:0025634	Abnormal ureter physiology	3209	HOXA13	ORPHA:2438
HP:0025634	Abnormal ureter physiology	4774	NFIA	OMIM:613735
HP:0025634	Abnormal ureter physiology	79813	EHMT1	ORPHA:96147
HP:0025634	Abnormal ureter physiology	79813	EHMT1	ORPHA:261652
HP:0025634	Abnormal ureter physiology	10992	SF3B2	OMIM:164210
HP:0025634	Abnormal ureter physiology	85358	SHANK3	OMIM:606232
HP:0025634	Abnormal ureter physiology	85358	SHANK3	ORPHA:48652
HP:0025634	Abnormal ureter physiology	1131	CHRM3	ORPHA:2970
HP:0025634	Abnormal ureter physiology	57167	SALL4	OMIM:607323
HP:0025634	Abnormal ureter physiology	57167	SALL4	ORPHA:959
HP:0025634	Abnormal ureter physiology	8626	TP63	OMIM:604292
HP:0025634	Abnormal ureter physiology	8626	TP63	ORPHA:93930
HP:0025634	Abnormal ureter physiology	8626	TP63	ORPHA:1896
HP:0025634	Abnormal ureter physiology	81839	VANGL1	ORPHA:3027
HP:0025634	Abnormal ureter physiology	80199	FUZ	ORPHA:3027
HP:0025634	Abnormal ureter physiology	64324	NSD1	ORPHA:821
HP:0025634	Abnormal ureter physiology	29072	SETD2	ORPHA:821
HP:0025634	Abnormal ureter physiology	10297	APC2	ORPHA:821
HP:0025634	Abnormal ureter physiology	5447	POR	ORPHA:95699
HP:0025634	Abnormal ureter physiology	55593	OTUD5	OMIM:301056
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	ORPHA:453504
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	OMIM:616580
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	ORPHA:352665
HP:0025634	Abnormal ureter physiology	27125	AFF4	ORPHA:444077
HP:0025634	Abnormal ureter physiology	27125	AFF4	OMIM:616368
HP:0025634	Abnormal ureter physiology	80114	BICC1	OMIM:601331
HP:0025634	Abnormal ureter physiology	6299	SALL1	OMIM:107480
HP:0025634	Abnormal ureter physiology	6299	SALL1	ORPHA:857
HP:0025634	Abnormal ureter physiology	4281	MID1	OMIM:300000
HP:0025634	Abnormal ureter physiology	4281	MID1	ORPHA:2745
HP:0025634	Abnormal ureter physiology	23498	HAAO	OMIM:617660
HP:0025634	Abnormal ureter physiology	1387	CREBBP	ORPHA:353281
HP:0025634	Abnormal ureter physiology	1387	CREBBP	ORPHA:353277
HP:0025634	Abnormal ureter physiology	51506	UFC1	OMIM:618076
HP:0025634	Abnormal ureter physiology	473	RERE	OMIM:616975
HP:0025634	Abnormal ureter physiology	473	RERE	ORPHA:494344
HP:0025634	Abnormal ureter physiology	3313	HSPA9	OMIM:616854
HP:0025634	Abnormal ureter physiology	55215	FANCI	OMIM:609053
HP:0025634	Abnormal ureter physiology	72	ACTG2	ORPHA:2604
HP:0025634	Abnormal ureter physiology	72	ACTG2	OMIM:155310
HP:0025634	Abnormal ureter physiology	2033	EP300	ORPHA:353284
HP:0025634	Abnormal ureter physiology	9915	ARNT2	OMIM:615926
HP:0025634	Abnormal ureter physiology	5080	PAX6	ORPHA:137902
HP:0025634	Abnormal ureter physiology	5080	PAX6	OMIM:120200
HP:0025634	Abnormal ureter physiology	6092	ROBO2	OMIM:610878
HP:0025634	Abnormal ureter physiology	55636	CHD7	ORPHA:138
HP:0025634	Abnormal ureter physiology	9723	SEMA3E	ORPHA:138
HP:0025634	Abnormal ureter physiology	2188	FANCF	OMIM:603467
HP:0025634	Abnormal ureter physiology	23005	MAPKBP1	OMIM:617271
HP:0025634	Abnormal ureter physiology	2263	FGFR2	ORPHA:93260
HP:0025634	Abnormal ureter physiology	2263	FGFR2	ORPHA:2363
HP:0025634	Abnormal ureter physiology	51473	DCDC2	OMIM:617394
HP:0025634	Abnormal ureter physiology	284058	KANSL1	ORPHA:363958
HP:0025634	Abnormal ureter physiology	284058	KANSL1	ORPHA:363965
HP:0025634	Abnormal ureter physiology	284058	KANSL1	OMIM:610443
HP:0025634	Abnormal ureter physiology	1136	CHRNA3	OMIM:191800
HP:0025634	Abnormal ureter physiology	9401	RECQL4	ORPHA:1225
HP:0025634	Abnormal ureter physiology	10616	RBCK1	OMIM:615895
HP:0025634	Abnormal ureter physiology	1108	CHD4	OMIM:617159
HP:0025634	Abnormal ureter physiology	7080	NKX2-1	ORPHA:209905
HP:0025634	Abnormal ureter physiology	1312	COMT	ORPHA:567
HP:0025634	Abnormal ureter physiology	221037	JMJD1C	ORPHA:567
HP:0025634	Abnormal ureter physiology	2812	GP1BB	ORPHA:567
HP:0025634	Abnormal ureter physiology	6239	RREB1	ORPHA:567
HP:0025634	Abnormal ureter physiology	6899	TBX1	ORPHA:567
HP:0025634	Abnormal ureter physiology	7290	HIRA	ORPHA:567
HP:0025634	Abnormal ureter physiology	9632	SEC24C	ORPHA:567
HP:0025634	Abnormal ureter physiology	7353	UFD1	ORPHA:567
HP:0025634	Abnormal ureter physiology	421	ARVCF	ORPHA:567
HP:0025634	Abnormal ureter physiology	3670	ISL1	ORPHA:93930
HP:0025634	Abnormal ureter physiology	25778	DSTYK	OMIM:610805
HP:0025634	Abnormal ureter physiology	22827	PUF60	ORPHA:508488
HP:0025634	Abnormal ureter physiology	9839	ZEB2	ORPHA:261552
HP:0025634	Abnormal ureter physiology	9839	ZEB2	ORPHA:261537
HP:0025634	Abnormal ureter physiology	10524	KAT5	OMIM:619103
HP:0025634	Abnormal ureter physiology	1656	DDX6	OMIM:618653
HP:0025634	Abnormal ureter physiology	5718	PSMD12	ORPHA:529962
HP:0025634	Abnormal ureter physiology	2186	BPTF	ORPHA:529962
HP:0025634	Abnormal ureter physiology	5277	PIGA	OMIM:300868
HP:0025634	Abnormal ureter physiology	6885	MAP3K7	OMIM:157800
HP:0025634	Abnormal ureter physiology	57178	ZMIZ1	OMIM:618659
HP:0025634	Abnormal ureter physiology	8550	MAPKAPK5	OMIM:619869
HP:0025634	Abnormal ureter physiology	60495	HPSE2	ORPHA:2704
HP:0025634	Abnormal ureter physiology	80781	COL18A1	ORPHA:1571
HP:0025634	Abnormal ureter physiology	5062	PAK2	ORPHA:1571
HP:0025634	Abnormal ureter physiology	54496	PRMT7	ORPHA:464288
HP:0025634	Abnormal ureter physiology	3192	HNRNPU	ORPHA:238769
HP:0025634	Abnormal ureter physiology	23476	BRD4	ORPHA:199
HP:0025634	Abnormal ureter physiology	9126	SMC3	ORPHA:199
HP:0025634	Abnormal ureter physiology	8243	SMC1A	ORPHA:199
HP:0025634	Abnormal ureter physiology	25836	NIPBL	ORPHA:199
HP:0025634	Abnormal ureter physiology	25836	NIPBL	OMIM:122470
HP:0025634	Abnormal ureter physiology	55869	HDAC8	ORPHA:199
HP:0025634	Abnormal ureter physiology	5885	RAD21	ORPHA:199
HP:0025634	Abnormal ureter physiology	5885	RAD21	OMIM:611376
HP:0025634	Abnormal ureter physiology	4613	MYCN	ORPHA:391641
HP:0025634	Abnormal ureter physiology	253738	EBF3	OMIM:617330
HP:0025634	Abnormal ureter physiology	5530	PPP3CA	OMIM:618265
HP:0025634	Abnormal ureter physiology	6135	RPL11	OMIM:612562
HP:0025634	Abnormal ureter physiology	92002	CCNQ	OMIM:300707
HP:0025634	Abnormal ureter physiology	92002	CCNQ	ORPHA:140952
HP:0025634	Abnormal ureter physiology	6804	STX1A	ORPHA:904
HP:0025634	Abnormal ureter physiology	7461	CLIP2	ORPHA:904
HP:0025634	Abnormal ureter physiology	84277	DNAJC30	ORPHA:904
HP:0025634	Abnormal ureter physiology	8468	FKBP6	ORPHA:904
HP:0025634	Abnormal ureter physiology	5982	RFC2	ORPHA:904
HP:0025634	Abnormal ureter physiology	2969	GTF2I	ORPHA:904
HP:0025634	Abnormal ureter physiology	3984	LIMK1	ORPHA:904
HP:0025634	Abnormal ureter physiology	9569	GTF2IRD1	ORPHA:904
HP:0025634	Abnormal ureter physiology	155382	VPS37D	ORPHA:904
HP:0025634	Abnormal ureter physiology	155368	METTL27	ORPHA:904
HP:0025634	Abnormal ureter physiology	114049	BUD23	ORPHA:904
HP:0025634	Abnormal ureter physiology	7458	EIF4H	ORPHA:904
HP:0025634	Abnormal ureter physiology	84163	GTF2IRD2	ORPHA:904
HP:0025634	Abnormal ureter physiology	9275	BCL7B	ORPHA:904
HP:0025634	Abnormal ureter physiology	26608	TBL2	ORPHA:904
HP:0025634	Abnormal ureter physiology	653361	NCF1	ORPHA:904
HP:0025634	Abnormal ureter physiology	135886	TMEM270	ORPHA:904
HP:0025634	Abnormal ureter physiology	51085	MLXIPL	ORPHA:904
HP:0025634	Abnormal ureter physiology	51085	MLXIPL	OMIM:194050
HP:0025634	Abnormal ureter physiology	9031	BAZ1B	ORPHA:904
HP:0025634	Abnormal ureter physiology	2006	ELN	ORPHA:904
HP:0025634	Abnormal ureter physiology	2006	ELN	OMIM:194050
HP:0025634	Abnormal ureter physiology	9091	PIGQ	OMIM:618548
HP:0025634	Abnormal ureter physiology	84720	PIGO	OMIM:614749
HP:0025634	Abnormal ureter physiology	54796	BNC2	ORPHA:93110
HP:0025634	Abnormal ureter physiology	54796	BNC2	OMIM:618612
HP:0025634	Abnormal ureter physiology	8405	SPOP	OMIM:618828
HP:0025634	Abnormal ureter physiology	147912	SIX5	ORPHA:107
HP:0025634	Abnormal ureter physiology	2131	EXT1	ORPHA:502
HP:0025634	Abnormal ureter physiology	7227	TRPS1	ORPHA:502
HP:0025634	Abnormal ureter physiology	8204	NRIP1	OMIM:618270
HP:0025634	Abnormal ureter physiology	58508	KMT2C	ORPHA:261652
HP:0025634	Abnormal ureter physiology	8318	CDC45	OMIM:617063
HP:0025634	Abnormal ureter physiology	253959	RALGAPA1	OMIM:618797
HP:0025634	Abnormal ureter physiology	1857	DVL3	OMIM:616894
HP:0025634	Abnormal ureter physiology	51339	DACT1	OMIM:617466
HP:0025634	Abnormal ureter physiology	51339	DACT1	ORPHA:857
HP:0025634	Abnormal ureter physiology	7148	TNXB	OMIM:615963
HP:0025634	Abnormal ureter physiology	7148	TNXB	OMIM:606408
HP:0025634	Abnormal ureter physiology	3110	MNX1	ORPHA:1552
HP:0025634	Abnormal ureter physiology	3110	MNX1	OMIM:176450
HP:0025634	Abnormal ureter physiology	182	JAG1	OMIM:118450
HP:0025634	Abnormal ureter physiology	2261	FGFR3	ORPHA:2363
HP:0025634	Abnormal ureter physiology	2255	FGF10	ORPHA:2363
HP:0025634	Abnormal ureter physiology	2316	FLNA	ORPHA:2484
HP:0025634	Abnormal ureter physiology	11128	POLR3A	ORPHA:3455
HP:0025634	Abnormal ureter physiology	9968	MED12	OMIM:301068
HP:0025634	Abnormal ureter physiology	64220	STRA6	ORPHA:2470
HP:0025634	Abnormal ureter physiology	5915	RARB	ORPHA:2470
HP:0025634	Abnormal ureter physiology	1028	CDKN1C	OMIM:130650
HP:0025634	Abnormal ureter physiology	10984	KCNQ1OT1	OMIM:130650
HP:0025634	Abnormal ureter physiology	3481	IGF2	OMIM:130650
HP:0025634	Abnormal ureter physiology	3784	KCNQ1	OMIM:130650
HP:0025634	Abnormal ureter physiology	51360	MBTPS2	ORPHA:85284
HP:0025634	Abnormal ureter physiology	546	ATRX	OMIM:309580
HP:0025634	Abnormal ureter physiology	2625	GATA3	ORPHA:2237
HP:0025634	Abnormal ureter physiology	6389	SDHA	ORPHA:3208
HP:0025634	Abnormal ureter physiology	6390	SDHB	ORPHA:3208
HP:0025634	Abnormal ureter physiology	6392	SDHD	ORPHA:3208
HP:0025634	Abnormal ureter physiology	644096	SDHAF1	ORPHA:3208
HP:0025634	Abnormal ureter physiology	4052	LTBP1	ORPHA:90349
HP:0025634	Abnormal ureter physiology	30008	EFEMP2	ORPHA:90349
HP:0025634	Abnormal ureter physiology	10516	FBLN5	ORPHA:90349
HP:0025634	Abnormal ureter physiology	9939	RBM8A	OMIM:274000
HP:0025634	Abnormal ureter physiology	147372	CCBE1	OMIM:235510
HP:0025634	Abnormal ureter physiology	9276	COPB2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	11113	CIT	ORPHA:2512
HP:0025634	Abnormal ureter physiology	9928	KIF14	ORPHA:2512
HP:0025634	Abnormal ureter physiology	22995	CEP152	ORPHA:2512
HP:0025634	Abnormal ureter physiology	284403	WDR62	ORPHA:2512
HP:0025634	Abnormal ureter physiology	55262	TRAPPC14	ORPHA:2512
HP:0025634	Abnormal ureter physiology	163786	SASS6	ORPHA:2512
HP:0025634	Abnormal ureter physiology	29920	PYCR2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	84879	MFSD2A	ORPHA:2512
HP:0025634	Abnormal ureter physiology	4176	MCM7	ORPHA:2512
HP:0025634	Abnormal ureter physiology	80254	CEP63	ORPHA:2512
HP:0025634	Abnormal ureter physiology	29081	METTL5	ORPHA:2512
HP:0025634	Abnormal ureter physiology	23310	NCAPD3	ORPHA:2512
HP:0025634	Abnormal ureter physiology	55755	CDK5RAP2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	79648	MCPH1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	6491	STIL	ORPHA:2512
HP:0025634	Abnormal ureter physiology	23141	ANKLE2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	259266	ASPM	ORPHA:2512
HP:0025634	Abnormal ureter physiology	7109	TRAPPC10	ORPHA:2512
HP:0025634	Abnormal ureter physiology	1911	PHC1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	6884	TAF13	ORPHA:2512
HP:0025634	Abnormal ureter physiology	9662	CEP135	ORPHA:2512
HP:0025634	Abnormal ureter physiology	55835	CENPJ	ORPHA:2512
HP:0025634	Abnormal ureter physiology	57082	KNL1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	1021	CDK6	ORPHA:2512
HP:0025634	Abnormal ureter physiology	171023	ASXL1	OMIM:605039
HP:0025634	Abnormal ureter physiology	8295	TRRAP	OMIM:618454
HP:0025634	Abnormal ureter physiology	7319	UBE2A	ORPHA:163956
HP:0025634	Abnormal ureter physiology	80000	GREB1L	OMIM:617805
HP:0025634	Abnormal ureter physiology	3909	LAMA3	ORPHA:79404
HP:0025634	Abnormal ureter physiology	3918	LAMC2	ORPHA:79404
HP:0025634	Abnormal ureter physiology	3914	LAMB3	ORPHA:79404
HP:0025634	Abnormal ureter physiology	538	ATP7A	OMIM:304150
HP:0025634	Abnormal ureter physiology	9380	GRHPR	ORPHA:93599
HP:0025634	Abnormal ureter physiology	55898	UNC45A	OMIM:619377
HP:0025634	Abnormal ureter physiology	64321	SOX17	OMIM:613674
HP:0025634	Abnormal ureter physiology	7750	ZMYM2	OMIM:619522
HP:0005200	Retroperitoneal fibrosis	55315	SLC29A3	OMIM:602782
HP:0005201	Anomalous splenoportal venous system	9401	RECQL4	OMIM:218600
HP:0005202	Helicobacter pylori infection	3459	IFNGR1	OMIM:600263
HP:0005202	Helicobacter pylori infection	2321	FLT1	ORPHA:275555
HP:0005202	Helicobacter pylori infection	219736	STOX1	ORPHA:275555
HP:0005202	Helicobacter pylori infection	10699	CORIN	ORPHA:275555
HP:0005202	Helicobacter pylori infection	146206	CARMIL2	OMIM:618131
HP:0005203	Spontaneous esophageal perforation	1294	COL7A1	OMIM:226600
HP:0005203	Spontaneous esophageal perforation	4312	MMP1	OMIM:226600
HP:0000775	Abnormality of the diaphragm	57211	ADGRG6	OMIM:616503
HP:0000775	Abnormality of the diaphragm	58	ACTA1	ORPHA:171430
HP:0000775	Abnormality of the diaphragm	4703	NEB	ORPHA:171430
HP:0000775	Abnormality of the diaphragm	131377	KLHL40	ORPHA:171430
HP:0000775	Abnormality of the diaphragm	10324	KLHL41	ORPHA:171430
HP:0000775	Abnormality of the diaphragm	56203	LMOD3	ORPHA:171430
HP:0000775	Abnormality of the diaphragm	8243	SMC1A	OMIM:301044
HP:0000775	Abnormality of the diaphragm	8243	SMC1A	ORPHA:199
HP:0000775	Abnormality of the diaphragm	10262	SF3B4	OMIM:154400
HP:0000775	Abnormality of the diaphragm	1947	EFNB1	ORPHA:1520
HP:0000775	Abnormality of the diaphragm	1947	EFNB1	OMIM:304110
HP:0000775	Abnormality of the diaphragm	23556	PIGN	ORPHA:2059
HP:0000775	Abnormality of the diaphragm	23556	PIGN	OMIM:614080
HP:0000775	Abnormality of the diaphragm	9759	HDAC4	ORPHA:1001
HP:0000775	Abnormality of the diaphragm	5111	PCNA	OMIM:615919
HP:0000775	Abnormality of the diaphragm	5111	PCNA	ORPHA:438134
HP:0000775	Abnormality of the diaphragm	23126	POGZ	ORPHA:468678
HP:0000775	Abnormality of the diaphragm	23126	POGZ	OMIM:616364
HP:0000775	Abnormality of the diaphragm	2316	FLNA	ORPHA:99811
HP:0000775	Abnormality of the diaphragm	2737	GLI3	ORPHA:36
HP:0000775	Abnormality of the diaphragm	2737	GLI3	ORPHA:380
HP:0000775	Abnormality of the diaphragm	374654	KIF7	ORPHA:36
HP:0000775	Abnormality of the diaphragm	1349	COX7B	OMIM:300887
HP:0000775	Abnormality of the diaphragm	1349	COX7B	ORPHA:2556
HP:0000775	Abnormality of the diaphragm	1349	COX7B	OMIM:309801
HP:0000775	Abnormality of the diaphragm	113179	ADAT3	ORPHA:363528
HP:0000775	Abnormality of the diaphragm	55784	MCTP2	ORPHA:1596
HP:0000775	Abnormality of the diaphragm	8085	KMT2D	ORPHA:2322
HP:0000775	Abnormality of the diaphragm	7403	KDM6A	ORPHA:2322
HP:0000775	Abnormality of the diaphragm	30008	EFEMP2	OMIM:614437
HP:0000775	Abnormality of the diaphragm	5915	RARB	OMIM:615524
HP:0000775	Abnormality of the diaphragm	5915	RARB	ORPHA:2470
HP:0000775	Abnormality of the diaphragm	1717	DHCR7	ORPHA:818
HP:0000775	Abnormality of the diaphragm	3736	KCNA1	ORPHA:972
HP:0000775	Abnormality of the diaphragm	10735	STAG2	OMIM:301022
HP:0000775	Abnormality of the diaphragm	51132	RLIM	OMIM:300978
HP:0000775	Abnormality of the diaphragm	57492	ARID1B	OMIM:135900
HP:0000775	Abnormality of the diaphragm	51434	ANAPC7	OMIM:619699
HP:0000775	Abnormality of the diaphragm	1147	CHUK	OMIM:613630
HP:0000775	Abnormality of the diaphragm	134701	RIPPLY2	ORPHA:2311
HP:0000775	Abnormality of the diaphragm	10683	DLL3	ORPHA:2311
HP:0000775	Abnormality of the diaphragm	3955	LFNG	ORPHA:2311
HP:0000775	Abnormality of the diaphragm	84667	HES7	ORPHA:2311
HP:0000775	Abnormality of the diaphragm	145873	MESP2	ORPHA:2311
HP:0000775	Abnormality of the diaphragm	54539	NDUFB11	ORPHA:2556
HP:0000775	Abnormality of the diaphragm	54539	NDUFB11	OMIM:309801
HP:0000775	Abnormality of the diaphragm	3052	HCCS	ORPHA:2556
HP:0000775	Abnormality of the diaphragm	3052	HCCS	OMIM:309801
HP:0000775	Abnormality of the diaphragm	2626	GATA4	ORPHA:251071
HP:0000775	Abnormality of the diaphragm	25942	SIN3A	ORPHA:94065
HP:0000775	Abnormality of the diaphragm	25942	SIN3A	OMIM:613406
HP:0000775	Abnormality of the diaphragm	10815	CPLX1	ORPHA:280
HP:0000775	Abnormality of the diaphragm	54872	PIGG	ORPHA:280
HP:0000775	Abnormality of the diaphragm	7469	NELFA	ORPHA:280
HP:0000775	Abnormality of the diaphragm	1487	CTBP1	ORPHA:280
HP:0000775	Abnormality of the diaphragm	3954	LETM1	ORPHA:280
HP:0000775	Abnormality of the diaphragm	7468	NSD2	ORPHA:280
HP:0000775	Abnormality of the diaphragm	22872	SEC31A	OMIM:618651
HP:0000775	Abnormality of the diaphragm	4330	MN1	OMIM:618774
HP:0000775	Abnormality of the diaphragm	79796	ALG9	OMIM:263210
HP:0000775	Abnormality of the diaphragm	6885	MAP3K7	OMIM:157800
HP:0000775	Abnormality of the diaphragm	25	ABL1	OMIM:617602
HP:0000775	Abnormality of the diaphragm	10046	MAMLD1	ORPHA:95706
HP:0000775	Abnormality of the diaphragm	367	AR	ORPHA:95706
HP:0000775	Abnormality of the diaphragm	4524	MTHFR	ORPHA:563609
HP:0000775	Abnormality of the diaphragm	57216	VANGL2	ORPHA:563609
HP:0000775	Abnormality of the diaphragm	6234	RPS28	OMIM:606164
HP:0000775	Abnormality of the diaphragm	23476	BRD4	ORPHA:199
HP:0000775	Abnormality of the diaphragm	9126	SMC3	ORPHA:199
HP:0000775	Abnormality of the diaphragm	25836	NIPBL	ORPHA:199
HP:0000775	Abnormality of the diaphragm	25836	NIPBL	OMIM:122470
HP:0000775	Abnormality of the diaphragm	55869	HDAC8	ORPHA:199
HP:0000775	Abnormality of the diaphragm	5885	RAD21	ORPHA:199
HP:0000775	Abnormality of the diaphragm	129563	DIS3L2	OMIM:267000
HP:0000775	Abnormality of the diaphragm	64840	PORCN	OMIM:305600
HP:0000775	Abnormality of the diaphragm	64840	PORCN	ORPHA:2092
HP:0000775	Abnormality of the diaphragm	340419	RSPO2	OMIM:618022
HP:0000775	Abnormality of the diaphragm	4094	MAF	ORPHA:1272
HP:0000775	Abnormality of the diaphragm	10293	TRAIP	OMIM:616777
HP:0000775	Abnormality of the diaphragm	79971	WLS	OMIM:619648
HP:0000775	Abnormality of the diaphragm	745	MYRF	OMIM:618280
HP:0000775	Abnormality of the diaphragm	2239	GPC4	ORPHA:373
HP:0000775	Abnormality of the diaphragm	2239	GPC4	OMIM:312870
HP:0000775	Abnormality of the diaphragm	2719	GPC3	ORPHA:373
HP:0000775	Abnormality of the diaphragm	2719	GPC3	OMIM:312870
HP:0000775	Abnormality of the diaphragm	81031	SLC2A10	OMIM:208050
HP:0000775	Abnormality of the diaphragm	9786	KIAA0586	OMIM:616546
HP:0000775	Abnormality of the diaphragm	51780	KDM3B	OMIM:618846
HP:0000775	Abnormality of the diaphragm	10225	CD96	ORPHA:1308
HP:0000775	Abnormality of the diaphragm	7473	WNT3	OMIM:273395
HP:0000775	Abnormality of the diaphragm	54361	WNT4	OMIM:611812
HP:0000775	Abnormality of the diaphragm	54361	WNT4	ORPHA:139466
HP:0000775	Abnormality of the diaphragm	3239	HOXD13	ORPHA:887
HP:0000775	Abnormality of the diaphragm	10516	FBLN5	OMIM:219100
HP:0000775	Abnormality of the diaphragm	9469	CHST3	OMIM:245600
HP:0000775	Abnormality of the diaphragm	26229	B3GAT3	OMIM:245600
HP:0000775	Abnormality of the diaphragm	25970	SH2B1	ORPHA:261197
HP:0000775	Abnormality of the diaphragm	8295	TRRAP	OMIM:618454
HP:0000775	Abnormality of the diaphragm	5087	PBX1	OMIM:617641
HP:0000775	Abnormality of the diaphragm	4281	MID1	ORPHA:2745
HP:0000775	Abnormality of the diaphragm	51339	DACT1	ORPHA:63260
HP:0000775	Abnormality of the diaphragm	9935	MAFB	OMIM:166300
HP:0000775	Abnormality of the diaphragm	219844	HYLS1	OMIM:236680
HP:0000775	Abnormality of the diaphragm	54332	GDAP1	ORPHA:99948
HP:0000775	Abnormality of the diaphragm	4036	LRP2	OMIM:222448
HP:0000775	Abnormality of the diaphragm	1146	CHRNG	OMIM:265000
HP:0000775	Abnormality of the diaphragm	374879	ZNF699	OMIM:619488
HP:0000775	Abnormality of the diaphragm	440	ASNS	OMIM:615574
HP:0000775	Abnormality of the diaphragm	8985	PLOD3	OMIM:612394
HP:0000775	Abnormality of the diaphragm	131118	DNAJC19	OMIM:610198
HP:0000775	Abnormality of the diaphragm	131118	DNAJC19	ORPHA:66634
HP:0000775	Abnormality of the diaphragm	84466	MEGF10	OMIM:614399
HP:0000775	Abnormality of the diaphragm	1954	MEGF8	OMIM:614976
HP:0000775	Abnormality of the diaphragm	4654	MYOD1	OMIM:618975
HP:0000775	Abnormality of the diaphragm	2783	GNB2	OMIM:619503
HP:0000775	Abnormality of the diaphragm	9325	TRIP4	OMIM:616866
HP:0000775	Abnormality of the diaphragm	196528	ARID2	OMIM:617808
HP:0000775	Abnormality of the diaphragm	8854	ALDH1A2	OMIM:620025
HP:0000775	Abnormality of the diaphragm	3508	IGHMBP2	OMIM:604320
HP:0000775	Abnormality of the diaphragm	4534	MTM1	OMIM:310400
HP:0000775	Abnormality of the diaphragm	64220	STRA6	OMIM:601186
HP:0000775	Abnormality of the diaphragm	65055	REEP1	OMIM:620011
HP:0000775	Abnormality of the diaphragm	7026	NR2F2	OMIM:618901
HP:0000775	Abnormality of the diaphragm	79133	NDUFAF5	OMIM:618238
HP:0000775	Abnormality of the diaphragm	23414	ZFPM2	ORPHA:2140
HP:0000775	Abnormality of the diaphragm	9361	LONP1	ORPHA:2140
HP:0000775	Abnormality of the diaphragm	2627	GATA6	ORPHA:2140
HP:0000775	Abnormality of the diaphragm	7490	WT1	OMIM:194080
HP:0000775	Abnormality of the diaphragm	8425	LTBP4	OMIM:613177
HP:0000775	Abnormality of the diaphragm	6231	RPS26	OMIM:613309
HP:0000775	Abnormality of the diaphragm	8493	PPM1D	OMIM:617450
HP:0000775	Abnormality of the diaphragm	6598	SMARCB1	OMIM:614608
HP:0000775	Abnormality of the diaphragm	9578	CDC42BPB	OMIM:619841
HP:0000775	Abnormality of the diaphragm	10020	GNE	ORPHA:602
HP:0100867	Duodenal stenosis	57217	TTC7A	ORPHA:2300
HP:0100867	Duodenal stenosis	2294	FOXF1	ORPHA:210122
HP:0100867	Duodenal stenosis	64220	STRA6	ORPHA:2470
HP:0100867	Duodenal stenosis	5915	RARB	ORPHA:2470
HP:0100867	Duodenal stenosis	672	BRCA1	ORPHA:84
HP:0100867	Duodenal stenosis	10459	MAD2L2	ORPHA:84
HP:0100867	Duodenal stenosis	7516	XRCC2	ORPHA:84
HP:0100867	Duodenal stenosis	29089	UBE2T	ORPHA:84
HP:0100867	Duodenal stenosis	675	BRCA2	ORPHA:84
HP:0100867	Duodenal stenosis	55120	FANCL	ORPHA:84
HP:0100867	Duodenal stenosis	2177	FANCD2	ORPHA:84
HP:0100867	Duodenal stenosis	2175	FANCA	ORPHA:84
HP:0100867	Duodenal stenosis	2187	FANCB	ORPHA:84
HP:0100867	Duodenal stenosis	2176	FANCC	ORPHA:84
HP:0100867	Duodenal stenosis	2178	FANCE	ORPHA:84
HP:0100867	Duodenal stenosis	2188	FANCF	ORPHA:84
HP:0100867	Duodenal stenosis	2189	FANCG	ORPHA:84
HP:0100867	Duodenal stenosis	5888	RAD51	ORPHA:84
HP:0100867	Duodenal stenosis	5889	RAD51C	ORPHA:84
HP:0100867	Duodenal stenosis	55159	RFWD3	ORPHA:84
HP:0100867	Duodenal stenosis	83990	BRIP1	ORPHA:84
HP:0100867	Duodenal stenosis	57697	FANCM	ORPHA:84
HP:0100867	Duodenal stenosis	79728	PALB2	ORPHA:84
HP:0100867	Duodenal stenosis	84464	SLX4	ORPHA:84
HP:0100867	Duodenal stenosis	2072	ERCC4	ORPHA:84
HP:0100867	Duodenal stenosis	55215	FANCI	ORPHA:84
HP:0100867	Duodenal stenosis	2623	GATA1	OMIM:190685
HP:0100867	Duodenal stenosis	8318	CDC45	OMIM:617063
HP:0005206	Pancreatic pseudocyst	1080	CFTR	OMIM:167800
HP:0005206	Pancreatic pseudocyst	11330	CTRC	OMIM:167800
HP:0005206	Pancreatic pseudocyst	6690	SPINK1	OMIM:167800
HP:0005206	Pancreatic pseudocyst	5645	PRSS2	OMIM:167800
HP:0005206	Pancreatic pseudocyst	5644	PRSS1	OMIM:167800
HP:0005208	Secretory diarrhea	83483	PLVAP	OMIM:618183
HP:0005208	Secretory diarrhea	4072	EPCAM	ORPHA:92050
HP:0005208	Secretory diarrhea	105371045	PERCC1	ORPHA:92050
HP:0005208	Secretory diarrhea	58484	NLRC4	OMIM:616050
HP:0005208	Secretory diarrhea	55898	UNC45A	OMIM:619377
HP:0005208	Secretory diarrhea	6809	STX3	OMIM:619445
HP:0005208	Secretory diarrhea	1956	EGFR	OMIM:616069
HP:0005208	Secretory diarrhea	6578	SLCO2A1	OMIM:614441
HP:0005208	Secretory diarrhea	6578	SLCO2A1	OMIM:167100
HP:0005208	Secretory diarrhea	50619	DEF6	OMIM:619573
HP:0005208	Secretory diarrhea	50943	FOXP3	ORPHA:37042
HP:0005208	Secretory diarrhea	6550	SLC9A3	OMIM:616868
HP:0005208	Secretory diarrhea	1811	SLC26A3	OMIM:214700
HP:0005208	Secretory diarrhea	10653	SPINT2	OMIM:270420
HP:0005209	Intrahepatic bile duct cysts	9968	MED12	OMIM:301068
HP:0025640	Abnormal urinary mineral level	540	ATP7B	OMIM:277900
HP:0025643	Tarlov cyst	23395	LARS2	OMIM:615300
HP:0025646	Bilateral polymicrogyria	25942	SIN3A	OMIM:613406
HP:0025646	Bilateral polymicrogyria	9289	ADGRG1	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	5297	PI4KA	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	27286	SRPX2	OMIM:300643
HP:0005211	Midgut malrotation	6558	SLC12A2	OMIM:619080
HP:0005211	Midgut malrotation	1723	DHODH	OMIM:263750
HP:0005212	Anal mucosal leukoplakia	488	ATP2A2	ORPHA:218
HP:0005212	Anal mucosal leukoplakia	1736	DKC1	OMIM:305000
HP:0005213	Pancreatic calcification	11330	CTRC	ORPHA:103918
HP:0005213	Pancreatic calcification	11330	CTRC	ORPHA:676
HP:0005213	Pancreatic calcification	11330	CTRC	OMIM:167800
HP:0005213	Pancreatic calcification	6690	SPINK1	ORPHA:103918
HP:0005213	Pancreatic calcification	6690	SPINK1	ORPHA:676
HP:0005213	Pancreatic calcification	6690	SPINK1	OMIM:608189
HP:0005213	Pancreatic calcification	6690	SPINK1	OMIM:167800
HP:0005213	Pancreatic calcification	5644	PRSS1	ORPHA:676
HP:0005213	Pancreatic calcification	5644	PRSS1	OMIM:167800
HP:0005213	Pancreatic calcification	5645	PRSS2	ORPHA:676
HP:0005213	Pancreatic calcification	5645	PRSS2	OMIM:167800
HP:0005213	Pancreatic calcification	846	CASR	ORPHA:676
HP:0005213	Pancreatic calcification	1080	CFTR	ORPHA:676
HP:0005213	Pancreatic calcification	1080	CFTR	OMIM:167800
HP:0005213	Pancreatic calcification	1357	CPA1	ORPHA:676
HP:0005213	Pancreatic calcification	5167	ENPP1	ORPHA:51608
HP:0005213	Pancreatic calcification	368	ABCC6	ORPHA:51608
HP:0005214	Intestinal obstruction	91574	MTRFR	ORPHA:254930
HP:0005214	Intestinal obstruction	91574	MTRFR	OMIM:613559
HP:0005214	Intestinal obstruction	2184	FAH	OMIM:276700
HP:0005214	Intestinal obstruction	6535	SLC6A8	OMIM:300352
HP:0005214	Intestinal obstruction	6535	SLC6A8	ORPHA:52503
HP:0005214	Intestinal obstruction	2130	EWSR1	ORPHA:83469
HP:0005214	Intestinal obstruction	7490	WT1	ORPHA:83469
HP:0005214	Intestinal obstruction	50943	FOXP3	ORPHA:37042
HP:0005214	Intestinal obstruction	50943	FOXP3	OMIM:304790
HP:0005214	Intestinal obstruction	284119	CAVIN1	OMIM:613327
HP:0005214	Intestinal obstruction	5498	PPOX	ORPHA:79473
HP:0005214	Intestinal obstruction	3145	HMBS	ORPHA:79276
HP:0005214	Intestinal obstruction	26153	KIF26A	OMIM:620156
HP:0005214	Intestinal obstruction	6572	SLC18A3	OMIM:617239
HP:0005214	Intestinal obstruction	2984	GUCY2C	OMIM:614665
HP:0005214	Intestinal obstruction	6804	STX1A	ORPHA:586
HP:0005214	Intestinal obstruction	2947	GSTM3	ORPHA:586
HP:0005214	Intestinal obstruction	7040	TGFB1	ORPHA:586
HP:0005214	Intestinal obstruction	7040	TGFB1	OMIM:219700
HP:0005214	Intestinal obstruction	2729	GCLC	ORPHA:586
HP:0005214	Intestinal obstruction	1084	CEACAM3	ORPHA:586
HP:0005214	Intestinal obstruction	6556	SLC11A1	ORPHA:586
HP:0005214	Intestinal obstruction	51164	DCTN4	ORPHA:586
HP:0005214	Intestinal obstruction	3783	KCNN4	ORPHA:586
HP:0005214	Intestinal obstruction	4282	MIF	ORPHA:586
HP:0005214	Intestinal obstruction	1909	EDNRA	ORPHA:586
HP:0005214	Intestinal obstruction	6550	SLC9A3	ORPHA:586
HP:0005214	Intestinal obstruction	3162	HMOX1	ORPHA:586
HP:0005214	Intestinal obstruction	115019	SLC26A9	ORPHA:586
HP:0005214	Intestinal obstruction	3077	HFE	ORPHA:586
HP:0005214	Intestinal obstruction	11254	SLC6A14	ORPHA:586
HP:0005214	Intestinal obstruction	5265	SERPINA1	ORPHA:586
HP:0005214	Intestinal obstruction	1080	CFTR	ORPHA:586
HP:0005214	Intestinal obstruction	1080	CFTR	OMIM:219700
HP:0005214	Intestinal obstruction	22802	CLCA4	ORPHA:586
HP:0005214	Intestinal obstruction	4680	CEACAM6	ORPHA:586
HP:0005214	Intestinal obstruction	2212	FCGR2A	OMIM:219700
HP:0005214	Intestinal obstruction	1499	CTNNB1	ORPHA:873
HP:0005214	Intestinal obstruction	324	APC	ORPHA:873
HP:0005214	Intestinal obstruction	4629	MYH11	OMIM:619350
HP:0005214	Intestinal obstruction	4854	NOTCH3	ORPHA:2591
HP:0005214	Intestinal obstruction	5159	PDGFRB	ORPHA:2591
HP:0005214	Intestinal obstruction	6390	SDHB	ORPHA:97286
HP:0005214	Intestinal obstruction	6390	SDHB	ORPHA:44890
HP:0005214	Intestinal obstruction	6390	SDHB	OMIM:606764
HP:0005214	Intestinal obstruction	6391	SDHC	ORPHA:97286
HP:0005214	Intestinal obstruction	6391	SDHC	ORPHA:44890
HP:0005214	Intestinal obstruction	6391	SDHC	OMIM:606764
HP:0005214	Intestinal obstruction	6392	SDHD	ORPHA:97286
HP:0005214	Intestinal obstruction	811	CALR	ORPHA:131
HP:0005214	Intestinal obstruction	3717	JAK2	ORPHA:131
HP:0005214	Intestinal obstruction	2153	F5	ORPHA:131
HP:0005214	Intestinal obstruction	57217	TTC7A	OMIM:243150
HP:0005214	Intestinal obstruction	6389	SDHA	ORPHA:44890
HP:0005214	Intestinal obstruction	5156	PDGFRA	ORPHA:44890
HP:0005214	Intestinal obstruction	3815	KIT	ORPHA:44890
HP:0005214	Intestinal obstruction	3815	KIT	OMIM:606764
HP:0005214	Intestinal obstruction	1493	CTLA4	ORPHA:900
HP:0005214	Intestinal obstruction	26191	PTPN22	ORPHA:900
HP:0005214	Intestinal obstruction	3115	HLA-DPB1	ORPHA:900
HP:0005214	Intestinal obstruction	5657	PRTN3	ORPHA:900
HP:0005214	Intestinal obstruction	3113	HLA-DPA1	ORPHA:900
HP:0005214	Intestinal obstruction	4598	MVK	ORPHA:343
HP:0005214	Intestinal obstruction	2131	EXT1	ORPHA:321
HP:0005214	Intestinal obstruction	2132	EXT2	ORPHA:321
HP:0005214	Intestinal obstruction	4210	MEFV	ORPHA:342
HP:0005214	Intestinal obstruction	4609	MYC	ORPHA:543
HP:0005214	Intestinal obstruction	215	ABCD1	ORPHA:388
HP:0005214	Intestinal obstruction	5979	RET	ORPHA:388
HP:0005214	Intestinal obstruction	2668	GDNF	ORPHA:388
HP:0005214	Intestinal obstruction	6608	SMO	ORPHA:388
HP:0005214	Intestinal obstruction	1889	ECE1	ORPHA:388
HP:0005214	Intestinal obstruction	6720	SREBF1	ORPHA:388
HP:0005214	Intestinal obstruction	1908	EDN3	ORPHA:388
HP:0005214	Intestinal obstruction	1908	EDN3	ORPHA:897
HP:0005214	Intestinal obstruction	223117	SEMA3D	ORPHA:388
HP:0005214	Intestinal obstruction	538	ATP7A	ORPHA:388
HP:0005214	Intestinal obstruction	1910	EDNRB	ORPHA:388
HP:0005214	Intestinal obstruction	1910	EDNRB	ORPHA:897
HP:0005214	Intestinal obstruction	10512	SEMA3C	ORPHA:388
HP:0005214	Intestinal obstruction	2064	ERBB2	ORPHA:388
HP:0005214	Intestinal obstruction	2065	ERBB3	ORPHA:388
HP:0005214	Intestinal obstruction	4902	NRTN	ORPHA:388
HP:0005214	Intestinal obstruction	2068	ERCC2	OMIM:601675
HP:0005214	Intestinal obstruction	1604	CD55	OMIM:226300
HP:0005214	Intestinal obstruction	3718	JAK3	OMIM:600802
HP:0005214	Intestinal obstruction	64127	NOD2	OMIM:266600
HP:0005214	Intestinal obstruction	3569	IL6	OMIM:266600
HP:0005214	Intestinal obstruction	6905	TBCE	ORPHA:2323
HP:0005214	Intestinal obstruction	6794	STK11	ORPHA:2869
HP:0005214	Intestinal obstruction	7132	TNFRSF1A	ORPHA:32960
HP:0005214	Intestinal obstruction	4286	MITF	ORPHA:897
HP:0005214	Intestinal obstruction	6663	SOX10	ORPHA:897
HP:0005215	Frequent Giardia lamblia infestation	4791	NFKB2	OMIM:615577
HP:0005215	Frequent Giardia lamblia infestation	30011	SH3KBP1	OMIM:300310
HP:0005216	Impaired mastication	26191	PTPN22	ORPHA:397
HP:0005216	Impaired mastication	3106	HLA-B	ORPHA:397
HP:0005216	Impaired mastication	3123	HLA-DRB1	ORPHA:397
HP:0005216	Impaired mastication	8974	P4HA2	ORPHA:397
HP:0005216	Impaired mastication	1134	CHRNA1	OMIM:601462
HP:0005216	Impaired mastication	4487	MSX1	ORPHA:141291
HP:0005216	Impaired mastication	4487	MSX1	ORPHA:99798
HP:0005216	Impaired mastication	5818	NECTIN1	ORPHA:141291
HP:0005216	Impaired mastication	8626	TP63	ORPHA:141291
HP:0005216	Impaired mastication	3664	IRF6	ORPHA:141291
HP:0005216	Impaired mastication	3664	IRF6	ORPHA:99798
HP:0005216	Impaired mastication	23394	ADNP	ORPHA:404448
HP:0005216	Impaired mastication	91574	MTRFR	ORPHA:254930
HP:0005216	Impaired mastication	91574	MTRFR	OMIM:613559
HP:0005216	Impaired mastication	8367	H4C5	OMIM:619950
HP:0005216	Impaired mastication	284058	KANSL1	ORPHA:363958
HP:0005216	Impaired mastication	284058	KANSL1	ORPHA:363965
HP:0005216	Impaired mastication	5528	PPP2R5D	ORPHA:457279
HP:0005216	Impaired mastication	23516	SLC39A14	OMIM:617013
HP:0005216	Impaired mastication	3423	IDS	ORPHA:217085
HP:0005216	Impaired mastication	3423	IDS	ORPHA:217093
HP:0005216	Impaired mastication	51126	NAA20	OMIM:619717
HP:0005216	Impaired mastication	10381	TUBB3	ORPHA:300570
HP:0005216	Impaired mastication	57679	ALS2	ORPHA:293168
HP:0005216	Impaired mastication	57679	ALS2	OMIM:607225
HP:0005216	Impaired mastication	79912	PYROXD1	OMIM:617258
HP:0005216	Impaired mastication	3211	HOXB1	OMIM:614744
HP:0005216	Impaired mastication	122622	ADSS1	ORPHA:482601
HP:0005216	Impaired mastication	5837	PYGM	ORPHA:368
HP:0005216	Impaired mastication	2260	FGFR1	ORPHA:99798
HP:0005216	Impaired mastication	128178	EDARADD	ORPHA:99798
HP:0005216	Impaired mastication	5083	PAX9	ORPHA:99798
HP:0005216	Impaired mastication	7341	SUMO1	ORPHA:99798
HP:0005216	Impaired mastication	80326	WNT10A	ORPHA:99798
HP:0005216	Impaired mastication	1896	EDA	ORPHA:99798
HP:0005216	Impaired mastication	8313	AXIN2	ORPHA:99798
HP:0005216	Impaired mastication	4040	LRP6	ORPHA:99798
HP:0005216	Impaired mastication	7039	TGFA	ORPHA:99798
HP:0005216	Impaired mastication	7480	WNT10B	ORPHA:99798
HP:0005216	Impaired mastication	57190	SELENON	ORPHA:2020
HP:0005216	Impaired mastication	58	ACTA1	ORPHA:2020
HP:0005216	Impaired mastication	4633	MYL2	ORPHA:2020
HP:0005216	Impaired mastication	3679	ITGA7	ORPHA:2020
HP:0005216	Impaired mastication	7169	TPM2	ORPHA:2020
HP:0005216	Impaired mastication	9200	HACD1	ORPHA:2020
HP:0005216	Impaired mastication	7170	TPM3	ORPHA:2020
HP:0005216	Impaired mastication	51776	MAP3K20	ORPHA:2020
HP:0005216	Impaired mastication	8292	COLQ	ORPHA:98915
HP:0005216	Impaired mastication	3913	LAMB2	ORPHA:98915
HP:0005216	Impaired mastication	23175	LPIN1	ORPHA:99845
HP:0005216	Impaired mastication	4512	MT-CO1	ORPHA:99845
HP:0005216	Impaired mastication	4514	MT-CO3	ORPHA:99845
HP:0005216	Impaired mastication	10667	FARS2	ORPHA:466722
HP:0005216	Impaired mastication	2902	GRIN1	ORPHA:208447
HP:0005216	Impaired mastication	3908	LAMA2	ORPHA:258
HP:0005216	Impaired mastication	2773	GNAI3	OMIM:602483
HP:0005217	Duplication of internal organs	7020	TFAP2A	OMIM:113620
HP:0005217	Duplication of internal organs	25836	NIPBL	OMIM:122470
HP:0005218	Anoperineal fistula	6850	SYK	OMIM:619381
HP:0005218	Anoperineal fistula	4689	NCF4	OMIM:613960
HP:0005218	Anoperineal fistula	2000	ELF4	OMIM:301074
HP:0005218	Anoperineal fistula	917	CD3G	OMIM:615607
HP:0005218	Anoperineal fistula	5317	PKP1	ORPHA:158668
HP:0005218	Anoperineal fistula	7040	TGFB1	OMIM:618213
HP:0005218	Anoperineal fistula	8085	KMT2D	OMIM:147920
HP:0005218	Anoperineal fistula	7403	KDM6A	OMIM:147920
HP:0005219	Absence of intrinsic factor	2694	CBLIF	OMIM:261000
HP:0025650	Steroid-dependent nephrotic syndrome	340533	NEXMIF	OMIM:300912
HP:0025656	Prenatal double bubble sign	2623	GATA1	OMIM:190685
HP:0005227	Adenomatous colonic polyposis	8313	AXIN2	ORPHA:401911
HP:0005227	Adenomatous colonic polyposis	8313	AXIN2	OMIM:608615
HP:0005227	Adenomatous colonic polyposis	324	APC	ORPHA:261584
HP:0005227	Adenomatous colonic polyposis	324	APC	ORPHA:99818
HP:0005227	Adenomatous colonic polyposis	324	APC	OMIM:175100
HP:0005227	Adenomatous colonic polyposis	324	APC	ORPHA:247806
HP:0005227	Adenomatous colonic polyposis	324	APC	ORPHA:79665
HP:0005227	Adenomatous colonic polyposis	54894	RNF43	ORPHA:157798
HP:0005227	Adenomatous colonic polyposis	26585	GREM1	ORPHA:157794
HP:0005227	Adenomatous colonic polyposis	657	BMPR1A	ORPHA:157794
HP:0005227	Adenomatous colonic polyposis	657	BMPR1A	ORPHA:329971
HP:0005227	Adenomatous colonic polyposis	657	BMPR1A	OMIM:610069
HP:0005227	Adenomatous colonic polyposis	657	BMPR1A	ORPHA:79076
HP:0005227	Adenomatous colonic polyposis	4913	NTHL1	ORPHA:454840
HP:0005227	Adenomatous colonic polyposis	4913	NTHL1	OMIM:616415
HP:0005227	Adenomatous colonic polyposis	4089	SMAD4	ORPHA:329971
HP:0005227	Adenomatous colonic polyposis	2022	ENG	ORPHA:329971
HP:0005227	Adenomatous colonic polyposis	8930	MBD4	OMIM:619975
HP:0005227	Adenomatous colonic polyposis	4595	MUTYH	OMIM:608456
HP:0005227	Adenomatous colonic polyposis	4595	MUTYH	ORPHA:247798
HP:0005227	Adenomatous colonic polyposis	5426	POLE	ORPHA:447877
HP:0005227	Adenomatous colonic polyposis	5424	POLD1	ORPHA:447877
HP:0005227	Adenomatous colonic polyposis	4292	MLH1	OMIM:276300
HP:0005227	Adenomatous colonic polyposis	5395	PMS2	OMIM:619101
HP:0005227	Adenomatous colonic polyposis	4437	MSH3	OMIM:617100
HP:0005227	Adenomatous colonic polyposis	4437	MSH3	ORPHA:480536
HP:0005227	Adenomatous colonic polyposis	4072	EPCAM	OMIM:613244
HP:0005227	Adenomatous colonic polyposis	5728	PTEN	ORPHA:79076
HP:0005229	Jejunoileal ulceration	5297	PI4KA	ORPHA:436252
HP:0005229	Jejunoileal ulceration	57217	TTC7A	ORPHA:436252
HP:0005225	Intestinal edema	710	SERPING1	ORPHA:100050
HP:0005225	Intestinal edema	710	SERPING1	OMIM:106100
HP:0005225	Intestinal edema	2161	F12	OMIM:610618
HP:0005222	Bowel diverticulosis	4292	MLH1	OMIM:158320
HP:0005222	Bowel diverticulosis	4436	MSH2	OMIM:158320
HP:0005222	Bowel diverticulosis	5979	RET	OMIM:162300
HP:0005222	Bowel diverticulosis	5290	PIK3CA	OMIM:615108
HP:0005222	Bowel diverticulosis	207	AKT1	OMIM:615109
HP:0005222	Bowel diverticulosis	5728	PTEN	OMIM:158350
HP:0005222	Bowel diverticulosis	6804	STX1A	ORPHA:904
HP:0005222	Bowel diverticulosis	7461	CLIP2	ORPHA:904
HP:0005222	Bowel diverticulosis	84277	DNAJC30	ORPHA:904
HP:0005222	Bowel diverticulosis	8468	FKBP6	ORPHA:904
HP:0005222	Bowel diverticulosis	5982	RFC2	ORPHA:904
HP:0005222	Bowel diverticulosis	2969	GTF2I	ORPHA:904
HP:0005222	Bowel diverticulosis	3984	LIMK1	ORPHA:904
HP:0005222	Bowel diverticulosis	9569	GTF2IRD1	ORPHA:904
HP:0005222	Bowel diverticulosis	155382	VPS37D	ORPHA:904
HP:0005222	Bowel diverticulosis	155368	METTL27	ORPHA:904
HP:0005222	Bowel diverticulosis	114049	BUD23	ORPHA:904
HP:0005222	Bowel diverticulosis	7458	EIF4H	ORPHA:904
HP:0005222	Bowel diverticulosis	84163	GTF2IRD2	ORPHA:904
HP:0005222	Bowel diverticulosis	9275	BCL7B	ORPHA:904
HP:0005222	Bowel diverticulosis	26608	TBL2	ORPHA:904
HP:0005222	Bowel diverticulosis	653361	NCF1	ORPHA:904
HP:0005222	Bowel diverticulosis	135886	TMEM270	ORPHA:904
HP:0005222	Bowel diverticulosis	51085	MLXIPL	ORPHA:904
HP:0005222	Bowel diverticulosis	51085	MLXIPL	OMIM:194050
HP:0005222	Bowel diverticulosis	9031	BAZ1B	ORPHA:904
HP:0005222	Bowel diverticulosis	197131	UBR1	OMIM:243800
HP:0005222	Bowel diverticulosis	2065	ERBB3	OMIM:243180
HP:0005222	Bowel diverticulosis	1890	TYMP	OMIM:603041
HP:0005222	Bowel diverticulosis	5428	POLG	OMIM:603041
HP:0005222	Bowel diverticulosis	5310	PKD1	OMIM:173900
HP:0005222	Bowel diverticulosis	2006	ELN	ORPHA:90348
HP:0005222	Bowel diverticulosis	10516	FBLN5	ORPHA:90348
HP:0005222	Bowel diverticulosis	10516	FBLN5	ORPHA:90349
HP:0005222	Bowel diverticulosis	5832	ALDH18A1	ORPHA:90348
HP:0005222	Bowel diverticulosis	4052	LTBP1	ORPHA:90349
HP:0005222	Bowel diverticulosis	30008	EFEMP2	ORPHA:90349
HP:0005222	Bowel diverticulosis	1289	COL5A1	OMIM:130000
HP:0025660	Chiari type II malformation	84667	HES7	OMIM:613686
HP:0025662	Abnormal fetal skeletal morphology	2623	GATA1	OMIM:190685
HP:0025662	Abnormal fetal skeletal morphology	168667	BMPER	OMIM:608022
HP:0025662	Abnormal fetal skeletal morphology	1301	COL11A1	OMIM:154780
HP:0025662	Abnormal fetal skeletal morphology	2261	FGFR3	OMIM:187600
HP:0025667	Fetal neck anomaly	10682	EBP	ORPHA:401973
HP:0025667	Fetal neck anomaly	10128	LRPPRC	OMIM:220111
HP:0025667	Fetal neck anomaly	2294	FOXF1	OMIM:265380
HP:0025667	Fetal neck anomaly	3190	HNRNPK	OMIM:616580
HP:0025667	Fetal neck anomaly	84231	TRAF7	OMIM:618164
HP:0025667	Fetal neck anomaly	1947	EFNB1	ORPHA:1520
HP:0025667	Fetal neck anomaly	100151683	RNU4ATAC	ORPHA:2636
HP:0025667	Fetal neck anomaly	23556	PIGN	ORPHA:2059
HP:0025667	Fetal neck anomaly	7355	SLC35A2	ORPHA:356961
HP:0025667	Fetal neck anomaly	1836	SLC26A2	ORPHA:93298
HP:0025667	Fetal neck anomaly	22800	RRAS2	ORPHA:648
HP:0025667	Fetal neck anomaly	867	CBL	ORPHA:648
HP:0025667	Fetal neck anomaly	8216	LZTR1	ORPHA:648
HP:0025667	Fetal neck anomaly	6016	RIT1	ORPHA:648
HP:0025667	Fetal neck anomaly	6237	RRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	5894	RAF1	ORPHA:648
HP:0025667	Fetal neck anomaly	22808	MRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	3845	KRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	200734	SPRED2	ORPHA:648
HP:0025667	Fetal neck anomaly	4893	NRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	6654	SOS1	ORPHA:648
HP:0025667	Fetal neck anomaly	6655	SOS2	ORPHA:648
HP:0025667	Fetal neck anomaly	5781	PTPN11	ORPHA:648
HP:0025667	Fetal neck anomaly	5922	RASA2	ORPHA:648
HP:0025667	Fetal neck anomaly	9321	TRIP11	ORPHA:93299
HP:0025667	Fetal neck anomaly	526	ATP6V1B2	ORPHA:79500
HP:0025667	Fetal neck anomaly	57465	TBC1D24	ORPHA:79500
HP:0025667	Fetal neck anomaly	57465	TBC1D24	OMIM:220500
HP:0025667	Fetal neck anomaly	79796	ALG9	ORPHA:79328
HP:0025667	Fetal neck anomaly	79796	ALG9	OMIM:263210
HP:0025667	Fetal neck anomaly	3265	HRAS	ORPHA:3071
HP:0025667	Fetal neck anomaly	29968	PSAT1	ORPHA:284417
HP:0025667	Fetal neck anomaly	2623	GATA1	OMIM:190685
HP:0025667	Fetal neck anomaly	25978	CHMP2B	ORPHA:275864
HP:0025667	Fetal neck anomaly	25978	CHMP2B	ORPHA:100070
HP:0025667	Fetal neck anomaly	5663	PSEN1	ORPHA:275864
HP:0025667	Fetal neck anomaly	5663	PSEN1	ORPHA:100070
HP:0025667	Fetal neck anomaly	2896	GRN	ORPHA:275864
HP:0025667	Fetal neck anomaly	2896	GRN	ORPHA:100070
HP:0025667	Fetal neck anomaly	54664	TMEM106B	ORPHA:275864
HP:0025667	Fetal neck anomaly	54664	TMEM106B	ORPHA:100070
HP:0025667	Fetal neck anomaly	8878	SQSTM1	ORPHA:275864
HP:0025667	Fetal neck anomaly	4137	MAPT	ORPHA:275864
HP:0025667	Fetal neck anomaly	4137	MAPT	ORPHA:100070
HP:0025667	Fetal neck anomaly	54209	TREM2	ORPHA:275864
HP:0025667	Fetal neck anomaly	54209	TREM2	ORPHA:100070
HP:0025667	Fetal neck anomaly	7415	VCP	ORPHA:275864
HP:0025667	Fetal neck anomaly	7415	VCP	ORPHA:100070
HP:0025667	Fetal neck anomaly	5167	ENPP1	ORPHA:758
HP:0025667	Fetal neck anomaly	368	ABCC6	ORPHA:758
HP:0025667	Fetal neck anomaly	55670	PEX26	ORPHA:912
HP:0025667	Fetal neck anomaly	5824	PEX19	ORPHA:912
HP:0025667	Fetal neck anomaly	5828	PEX2	ORPHA:912
HP:0025667	Fetal neck anomaly	8504	PEX3	ORPHA:912
HP:0025667	Fetal neck anomaly	8799	PEX11B	ORPHA:912
HP:0025667	Fetal neck anomaly	9409	PEX16	ORPHA:912
HP:0025667	Fetal neck anomaly	5190	PEX6	ORPHA:912
HP:0025667	Fetal neck anomaly	5830	PEX5	ORPHA:912
HP:0025667	Fetal neck anomaly	5189	PEX1	ORPHA:912
HP:0025667	Fetal neck anomaly	5193	PEX12	ORPHA:912
HP:0025667	Fetal neck anomaly	5194	PEX13	ORPHA:912
HP:0025667	Fetal neck anomaly	5195	PEX14	ORPHA:912
HP:0025667	Fetal neck anomaly	5192	PEX10	ORPHA:912
HP:0025667	Fetal neck anomaly	3911	LAMA5	OMIM:620076
HP:0025667	Fetal neck anomaly	3930	LBR	OMIM:215140
HP:0025667	Fetal neck anomaly	23476	BRD4	ORPHA:199
HP:0025667	Fetal neck anomaly	9126	SMC3	ORPHA:199
HP:0025667	Fetal neck anomaly	8243	SMC1A	ORPHA:199
HP:0025667	Fetal neck anomaly	25836	NIPBL	ORPHA:199
HP:0025667	Fetal neck anomaly	55869	HDAC8	ORPHA:199
HP:0025667	Fetal neck anomaly	5885	RAD21	ORPHA:199
HP:0025667	Fetal neck anomaly	699	BUB1	OMIM:620183
HP:0025667	Fetal neck anomaly	699	BUB1	ORPHA:1052
HP:0025667	Fetal neck anomaly	1725	DHPS	OMIM:618480
HP:0025667	Fetal neck anomaly	104	ADARB1	OMIM:618862
HP:0025667	Fetal neck anomaly	4593	MUSK	OMIM:208150
HP:0025667	Fetal neck anomaly	29895	MYL11	OMIM:619110
HP:0025667	Fetal neck anomaly	10274	STAG1	OMIM:617635
HP:0025667	Fetal neck anomaly	2261	FGFR3	ORPHA:1860
HP:0025667	Fetal neck anomaly	2261	FGFR3	ORPHA:93274
HP:0025667	Fetal neck anomaly	6804	STX1A	ORPHA:904
HP:0025667	Fetal neck anomaly	7461	CLIP2	ORPHA:904
HP:0025667	Fetal neck anomaly	84277	DNAJC30	ORPHA:904
HP:0025667	Fetal neck anomaly	8468	FKBP6	ORPHA:904
HP:0025667	Fetal neck anomaly	5982	RFC2	ORPHA:904
HP:0025667	Fetal neck anomaly	2969	GTF2I	ORPHA:904
HP:0025667	Fetal neck anomaly	3984	LIMK1	ORPHA:904
HP:0025667	Fetal neck anomaly	9569	GTF2IRD1	ORPHA:904
HP:0025667	Fetal neck anomaly	155382	VPS37D	ORPHA:904
HP:0025667	Fetal neck anomaly	155368	METTL27	ORPHA:904
HP:0025667	Fetal neck anomaly	114049	BUD23	ORPHA:904
HP:0025667	Fetal neck anomaly	7458	EIF4H	ORPHA:904
HP:0025667	Fetal neck anomaly	84163	GTF2IRD2	ORPHA:904
HP:0025667	Fetal neck anomaly	9275	BCL7B	ORPHA:904
HP:0025667	Fetal neck anomaly	26608	TBL2	ORPHA:904
HP:0025667	Fetal neck anomaly	653361	NCF1	ORPHA:904
HP:0025667	Fetal neck anomaly	135886	TMEM270	ORPHA:904
HP:0025667	Fetal neck anomaly	51085	MLXIPL	ORPHA:904
HP:0025667	Fetal neck anomaly	9031	BAZ1B	ORPHA:904
HP:0025667	Fetal neck anomaly	2006	ELN	ORPHA:904
HP:0025667	Fetal neck anomaly	79770	TXNDC15	OMIM:619879
HP:0025667	Fetal neck anomaly	415	ARSL	ORPHA:79345
HP:0025667	Fetal neck anomaly	83475	DOHH	OMIM:620066
HP:0025667	Fetal neck anomaly	9896	FIG4	ORPHA:3472
HP:0025667	Fetal neck anomaly	55697	VAC14	ORPHA:3472
HP:0025667	Fetal neck anomaly	9184	BUB3	ORPHA:1052
HP:0025667	Fetal neck anomaly	9702	CEP57	ORPHA:1052
HP:0025667	Fetal neck anomaly	9319	TRIP13	ORPHA:1052
HP:0025667	Fetal neck anomaly	701	BUB1B	ORPHA:1052
HP:0025667	Fetal neck anomaly	2050	EPHB4	OMIM:617300
HP:0025667	Fetal neck anomaly	1822	ATN1	OMIM:618494
HP:0025667	Fetal neck anomaly	55790	CSGALNACT1	OMIM:618870
HP:0025667	Fetal neck anomaly	10082	GPC6	ORPHA:93329
HP:0025667	Fetal neck anomaly	4953	ODC1	ORPHA:544488
HP:0025667	Fetal neck anomaly	1717	DHCR7	ORPHA:818
HP:0025667	Fetal neck anomaly	168667	BMPER	OMIM:608022
HP:0025667	Fetal neck anomaly	6925	TCF4	OMIM:610954
HP:0025668	Abnormal neck morphology	5290	PIK3CA	OMIM:612918
HP:0025668	Abnormal neck morphology	9780	PIEZO1	OMIM:616843
HP:0025668	Abnormal neck morphology	6885	MAP3K7	OMIM:617137
HP:0025668	Abnormal neck morphology	8854	ALDH1A2	OMIM:620025
HP:0025668	Abnormal neck morphology	2624	GATA2	OMIM:614038
HP:0025668	Abnormal neck morphology	23291	FBXW11	OMIM:618914
HP:0025668	Abnormal neck morphology	998	CDC42	OMIM:616737
HP:0025668	Abnormal neck morphology	998	CDC42	ORPHA:487796
HP:0025668	Abnormal neck morphology	10559	SLC35A1	OMIM:603585
HP:0025668	Abnormal neck morphology	7080	NKX2-1	ORPHA:209905
HP:0025668	Abnormal neck morphology	54880	BCOR	ORPHA:568
HP:0025668	Abnormal neck morphology	54880	BCOR	OMIM:309800
HP:0025668	Abnormal neck morphology	55636	CHD7	OMIM:214800
HP:0025668	Abnormal neck morphology	6628	SNRPB	OMIM:117650
HP:0025668	Abnormal neck morphology	6628	SNRPB	ORPHA:1393
HP:0025668	Abnormal neck morphology	55617	TASP1	OMIM:618950
HP:0025668	Abnormal neck morphology	9772	TMEM94	OMIM:618316
HP:0025668	Abnormal neck morphology	139285	AMER1	OMIM:300373
HP:0025668	Abnormal neck morphology	7994	KAT6A	OMIM:616268
HP:0025668	Abnormal neck morphology	4000	LMNA	ORPHA:1662
HP:0025668	Abnormal neck morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025668	Abnormal neck morphology	54916	TMEM260	OMIM:617478
HP:0025668	Abnormal neck morphology	91252	SLC39A13	OMIM:612350
HP:0025668	Abnormal neck morphology	3480	IGF1R	OMIM:270450
HP:0025668	Abnormal neck morphology	3991	LIPE	ORPHA:435660
HP:0025668	Abnormal neck morphology	11253	MAN1B1	ORPHA:397941
HP:0025668	Abnormal neck morphology	11253	MAN1B1	OMIM:614202
HP:0025668	Abnormal neck morphology	8367	H4C5	OMIM:619950
HP:0025668	Abnormal neck morphology	2972	BRF1	OMIM:616202
HP:0025668	Abnormal neck morphology	2972	BRF1	ORPHA:444072
HP:0025668	Abnormal neck morphology	9820	CUL7	ORPHA:2616
HP:0025668	Abnormal neck morphology	9820	CUL7	OMIM:273750
HP:0025668	Abnormal neck morphology	23363	OBSL1	ORPHA:2616
HP:0025668	Abnormal neck morphology	23363	OBSL1	OMIM:612921
HP:0025668	Abnormal neck morphology	83987	CCDC8	ORPHA:2616
HP:0025668	Abnormal neck morphology	83987	CCDC8	OMIM:614205
HP:0025668	Abnormal neck morphology	55627	SMPD4	OMIM:618622
HP:0025668	Abnormal neck morphology	5361	PLXNA1	OMIM:619955
HP:0025668	Abnormal neck morphology	4125	MAN2B1	ORPHA:309282
HP:0025668	Abnormal neck morphology	6662	SOX9	ORPHA:140
HP:0025668	Abnormal neck morphology	341640	FREM2	OMIM:617666
HP:0025668	Abnormal neck morphology	2201	FBN2	OMIM:121050
HP:0025668	Abnormal neck morphology	84572	GNPTG	OMIM:252605
HP:0025668	Abnormal neck morphology	6023	RMRP	ORPHA:175
HP:0025668	Abnormal neck morphology	6023	RMRP	OMIM:607095
HP:0025668	Abnormal neck morphology	83696	TRAPPC9	OMIM:613192
HP:0025668	Abnormal neck morphology	1020	CDK5	OMIM:616342
HP:0025668	Abnormal neck morphology	10606	PAICS	OMIM:619859
HP:0025668	Abnormal neck morphology	4853	NOTCH2	OMIM:102500
HP:0025668	Abnormal neck morphology	4853	NOTCH2	ORPHA:955
HP:0025668	Abnormal neck morphology	55681	SCYL2	OMIM:618766
HP:0025668	Abnormal neck morphology	64359	NXN	ORPHA:1507
HP:0025668	Abnormal neck morphology	4920	ROR2	ORPHA:1507
HP:0025668	Abnormal neck morphology	4920	ROR2	OMIM:268310
HP:0025668	Abnormal neck morphology	3339	HSPG2	ORPHA:1865
HP:0025668	Abnormal neck morphology	3339	HSPG2	OMIM:255800
HP:0025668	Abnormal neck morphology	3339	HSPG2	ORPHA:800
HP:0025668	Abnormal neck morphology	2626	GATA4	ORPHA:251071
HP:0025668	Abnormal neck morphology	1501	CTNND2	ORPHA:281
HP:0025668	Abnormal neck morphology	9037	SEMA5A	ORPHA:281
HP:0025668	Abnormal neck morphology	1301	COL11A1	OMIM:228520
HP:0025668	Abnormal neck morphology	1301	COL11A1	ORPHA:2021
HP:0025668	Abnormal neck morphology	93627	TBCK	ORPHA:488632
HP:0025668	Abnormal neck morphology	10716	TBR1	ORPHA:1617
HP:0025668	Abnormal neck morphology	26040	SETBP1	OMIM:269150
HP:0025668	Abnormal neck morphology	26040	SETBP1	ORPHA:798
HP:0025668	Abnormal neck morphology	4247	MGAT2	OMIM:212066
HP:0025668	Abnormal neck morphology	92482	BBIP1	ORPHA:110
HP:0025668	Abnormal neck morphology	80184	CEP290	ORPHA:110
HP:0025668	Abnormal neck morphology	11020	IFT27	ORPHA:110
HP:0025668	Abnormal neck morphology	582	BBS1	ORPHA:110
HP:0025668	Abnormal neck morphology	49855	SCAPER	ORPHA:110
HP:0025668	Abnormal neck morphology	4867	NPHP1	ORPHA:110
HP:0025668	Abnormal neck morphology	51057	WDPCP	ORPHA:110
HP:0025668	Abnormal neck morphology	27241	BBS9	ORPHA:110
HP:0025668	Abnormal neck morphology	84984	CEP19	ORPHA:110
HP:0025668	Abnormal neck morphology	22954	TRIM32	ORPHA:110
HP:0025668	Abnormal neck morphology	54903	MKS1	ORPHA:110
HP:0025668	Abnormal neck morphology	54903	MKS1	OMIM:249000
HP:0025668	Abnormal neck morphology	79738	BBS10	ORPHA:110
HP:0025668	Abnormal neck morphology	123016	TTC8	ORPHA:110
HP:0025668	Abnormal neck morphology	26160	IFT172	ORPHA:110
HP:0025668	Abnormal neck morphology	583	BBS2	ORPHA:110
HP:0025668	Abnormal neck morphology	585	BBS4	ORPHA:110
HP:0025668	Abnormal neck morphology	8195	MKKS	ORPHA:110
HP:0025668	Abnormal neck morphology	54585	LZTFL1	ORPHA:110
HP:0025668	Abnormal neck morphology	55212	BBS7	ORPHA:110
HP:0025668	Abnormal neck morphology	166379	BBS12	ORPHA:110
HP:0025668	Abnormal neck morphology	10806	SDCCAG8	ORPHA:110
HP:0025668	Abnormal neck morphology	157657	CFAP418	ORPHA:110
HP:0025668	Abnormal neck morphology	84100	ARL6	ORPHA:110
HP:0025668	Abnormal neck morphology	129880	BBS5	ORPHA:110
HP:0025668	Abnormal neck morphology	80173	IFT74	ORPHA:110
HP:0025668	Abnormal neck morphology	63895	PIEZO2	OMIM:114300
HP:0025668	Abnormal neck morphology	63895	PIEZO2	OMIM:248700
HP:0025668	Abnormal neck morphology	23126	POGZ	OMIM:616364
HP:0025668	Abnormal neck morphology	23126	POGZ	ORPHA:468678
HP:0025668	Abnormal neck morphology	51633	OTUD6B	OMIM:617452
HP:0025668	Abnormal neck morphology	51633	OTUD6B	ORPHA:505237
HP:0025668	Abnormal neck morphology	3572	IL6ST	OMIM:619750
HP:0025668	Abnormal neck morphology	5048	PAFAH1B1	ORPHA:217385
HP:0025668	Abnormal neck morphology	7531	YWHAE	ORPHA:217385
HP:0025668	Abnormal neck morphology	92609	TIMM50	OMIM:617698
HP:0025668	Abnormal neck morphology	79770	TXNDC15	OMIM:619879
HP:0025668	Abnormal neck morphology	2990	GUSB	ORPHA:584
HP:0025668	Abnormal neck morphology	2990	GUSB	OMIM:253220
HP:0025668	Abnormal neck morphology	79718	TBL1XR1	OMIM:602342
HP:0025668	Abnormal neck morphology	79718	TBL1XR1	ORPHA:487825
HP:0025668	Abnormal neck morphology	8314	BAP1	OMIM:619762
HP:0025668	Abnormal neck morphology	50485	SMARCAL1	ORPHA:1830
HP:0025668	Abnormal neck morphology	50485	SMARCAL1	OMIM:242900
HP:0025668	Abnormal neck morphology	79728	PALB2	OMIM:610832
HP:0025668	Abnormal neck morphology	6925	TCF4	OMIM:610954
HP:0025668	Abnormal neck morphology	6925	TCF4	ORPHA:2896
HP:0025668	Abnormal neck morphology	91949	COG7	ORPHA:79333
HP:0025668	Abnormal neck morphology	91949	COG7	OMIM:608779
HP:0025668	Abnormal neck morphology	6473	SHOX	ORPHA:314795
HP:0025668	Abnormal neck morphology	124583	CANT1	OMIM:251450
HP:0025668	Abnormal neck morphology	124583	CANT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	56975	FAM20C	ORPHA:1832
HP:0025668	Abnormal neck morphology	56975	FAM20C	OMIM:259775
HP:0025668	Abnormal neck morphology	2239	GPC4	ORPHA:373
HP:0025668	Abnormal neck morphology	2719	GPC3	ORPHA:373
HP:0025668	Abnormal neck morphology	55120	FANCL	OMIM:614083
HP:0025668	Abnormal neck morphology	3423	IDS	OMIM:309900
HP:0025668	Abnormal neck morphology	259232	NALCN	OMIM:616266
HP:0025668	Abnormal neck morphology	259232	NALCN	ORPHA:1147
HP:0025668	Abnormal neck morphology	259232	NALCN	ORPHA:371364
HP:0025668	Abnormal neck morphology	2260	FGFR1	OMIM:166250
HP:0025668	Abnormal neck morphology	2720	GLB1	OMIM:230500
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:272460
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:108721
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:108720
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:79443
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:79444
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:94089
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:612463
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:612462
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:103580
HP:0025668	Abnormal neck morphology	6135	RPL11	ORPHA:124
HP:0025668	Abnormal neck morphology	6138	RPL15	ORPHA:124
HP:0025668	Abnormal neck morphology	6229	RPS24	ORPHA:124
HP:0025668	Abnormal neck morphology	6125	RPL5	ORPHA:124
HP:0025668	Abnormal neck morphology	6204	RPS10	ORPHA:124
HP:0025668	Abnormal neck morphology	6224	RPS20	ORPHA:124
HP:0025668	Abnormal neck morphology	6165	RPL35A	ORPHA:124
HP:0025668	Abnormal neck morphology	6223	RPS19	ORPHA:124
HP:0025668	Abnormal neck morphology	6223	RPS19	OMIM:105650
HP:0025668	Abnormal neck morphology	6232	RPS27	ORPHA:124
HP:0025668	Abnormal neck morphology	11224	RPL35	ORPHA:124
HP:0025668	Abnormal neck morphology	6160	RPL31	ORPHA:124
HP:0025668	Abnormal neck morphology	6218	RPS17	ORPHA:124
HP:0025668	Abnormal neck morphology	6201	RPS7	ORPHA:124
HP:0025668	Abnormal neck morphology	6155	RPL27	ORPHA:124
HP:0025668	Abnormal neck morphology	6154	RPL26	ORPHA:124
HP:0025668	Abnormal neck morphology	6210	RPS15A	ORPHA:124
HP:0025668	Abnormal neck morphology	90121	TSR2	ORPHA:124
HP:0025668	Abnormal neck morphology	6141	RPL18	ORPHA:124
HP:0025668	Abnormal neck morphology	6235	RPS29	ORPHA:124
HP:0025668	Abnormal neck morphology	51816	ADA2	ORPHA:124
HP:0025668	Abnormal neck morphology	6261	RYR1	OMIM:619542
HP:0025668	Abnormal neck morphology	9742	IFT140	OMIM:266920
HP:0025668	Abnormal neck morphology	54101	RIPK4	OMIM:263650
HP:0025668	Abnormal neck morphology	26173	INTS1	OMIM:618571
HP:0025668	Abnormal neck morphology	9427	ECEL1	OMIM:615065
HP:0025668	Abnormal neck morphology	93587	TRMT10A	OMIM:616033
HP:0025668	Abnormal neck morphology	93587	TRMT10A	ORPHA:391408
HP:0025668	Abnormal neck morphology	54808	DYM	ORPHA:239
HP:0025668	Abnormal neck morphology	54808	DYM	OMIM:607326
HP:0025668	Abnormal neck morphology	54808	DYM	OMIM:223800
HP:0025668	Abnormal neck morphology	2879	GPX4	OMIM:250220
HP:0025668	Abnormal neck morphology	9949	AMMECR1	OMIM:300990
HP:0025668	Abnormal neck morphology	4921	DDR2	OMIM:271665
HP:0025668	Abnormal neck morphology	22827	PUF60	ORPHA:508498
HP:0025668	Abnormal neck morphology	22827	PUF60	ORPHA:508488
HP:0025668	Abnormal neck morphology	22827	PUF60	OMIM:615583
HP:0025668	Abnormal neck morphology	65992	DDRGK1	OMIM:602557
HP:0025668	Abnormal neck morphology	65992	DDRGK1	ORPHA:93352
HP:0025668	Abnormal neck morphology	10466	COG5	ORPHA:263487
HP:0025668	Abnormal neck morphology	6909	TBX2	OMIM:618223
HP:0025668	Abnormal neck morphology	2187	FANCB	OMIM:300514
HP:0025668	Abnormal neck morphology	23314	SATB2	ORPHA:251028
HP:0025668	Abnormal neck morphology	8675	STX16	ORPHA:94089
HP:0025668	Abnormal neck morphology	55215	FANCI	OMIM:609053
HP:0025668	Abnormal neck morphology	5010	CLDN11	OMIM:619328
HP:0025668	Abnormal neck morphology	176	ACAN	OMIM:612813
HP:0025668	Abnormal neck morphology	176	ACAN	ORPHA:171866
HP:0025668	Abnormal neck morphology	79068	FTO	OMIM:612938
HP:0025668	Abnormal neck morphology	3417	IDH1	ORPHA:99646
HP:0025668	Abnormal neck morphology	3039	HBA1	ORPHA:98791
HP:0025668	Abnormal neck morphology	3040	HBA2	ORPHA:98791
HP:0025668	Abnormal neck morphology	10940	POP1	OMIM:617396
HP:0025668	Abnormal neck morphology	10082	GPC6	OMIM:258315
HP:0025668	Abnormal neck morphology	23389	MED13L	ORPHA:369891
HP:0025668	Abnormal neck morphology	23389	MED13L	OMIM:616789
HP:0025668	Abnormal neck morphology	1312	COMT	ORPHA:567
HP:0025668	Abnormal neck morphology	221037	JMJD1C	ORPHA:567
HP:0025668	Abnormal neck morphology	2812	GP1BB	ORPHA:567
HP:0025668	Abnormal neck morphology	6239	RREB1	ORPHA:567
HP:0025668	Abnormal neck morphology	6899	TBX1	ORPHA:567
HP:0025668	Abnormal neck morphology	7290	HIRA	ORPHA:567
HP:0025668	Abnormal neck morphology	9632	SEC24C	ORPHA:567
HP:0025668	Abnormal neck morphology	7353	UFD1	ORPHA:567
HP:0025668	Abnormal neck morphology	421	ARVCF	ORPHA:567
HP:0025668	Abnormal neck morphology	3977	LIFR	OMIM:601559
HP:0025668	Abnormal neck morphology	5277	PIGA	OMIM:300868
HP:0025668	Abnormal neck morphology	9244	CRLF1	OMIM:272430
HP:0025668	Abnormal neck morphology	29895	MYL11	OMIM:619110
HP:0025668	Abnormal neck morphology	26005	C2CD3	ORPHA:434179
HP:0025668	Abnormal neck morphology	3636	INPPL1	OMIM:258480
HP:0025668	Abnormal neck morphology	3636	INPPL1	ORPHA:3144
HP:0025668	Abnormal neck morphology	203068	TUBB	OMIM:156610
HP:0025668	Abnormal neck morphology	6872	TAF1	OMIM:300966
HP:0025668	Abnormal neck morphology	51715	RAB23	OMIM:201000
HP:0025668	Abnormal neck morphology	23233	EXOC6B	OMIM:618395
HP:0025668	Abnormal neck morphology	8450	CUL4B	ORPHA:85293
HP:0025668	Abnormal neck morphology	23169	SLC35D1	OMIM:269250
HP:0025668	Abnormal neck morphology	23169	SLC35D1	ORPHA:3144
HP:0025668	Abnormal neck morphology	84919	PPP1R15B	ORPHA:391408
HP:0025668	Abnormal neck morphology	2799	GNS	OMIM:252940
HP:0025668	Abnormal neck morphology	89970	RSPRY1	ORPHA:457395
HP:0025668	Abnormal neck morphology	89970	RSPRY1	OMIM:616723
HP:0025668	Abnormal neck morphology	2733	GLE1	OMIM:611890
HP:0025668	Abnormal neck morphology	2733	GLE1	ORPHA:1486
HP:0025668	Abnormal neck morphology	51594	NBAS	OMIM:614800
HP:0025668	Abnormal neck morphology	168667	BMPER	ORPHA:66637
HP:0025668	Abnormal neck morphology	168667	BMPER	OMIM:608022
HP:0025668	Abnormal neck morphology	4683	NBN	ORPHA:647
HP:0025668	Abnormal neck morphology	7474	WNT5A	OMIM:180700
HP:0025668	Abnormal neck morphology	7474	WNT5A	ORPHA:3107
HP:0025668	Abnormal neck morphology	1855	DVL1	OMIM:180700
HP:0025668	Abnormal neck morphology	1855	DVL1	ORPHA:3107
HP:0025668	Abnormal neck morphology	5727	PTCH1	ORPHA:77301
HP:0025668	Abnormal neck morphology	84842	HPDL	OMIM:619026
HP:0025668	Abnormal neck morphology	8022	LHX3	ORPHA:231720
HP:0025668	Abnormal neck morphology	8022	LHX3	ORPHA:226307
HP:0025668	Abnormal neck morphology	8022	LHX3	OMIM:221750
HP:0025668	Abnormal neck morphology	51109	RDH11	ORPHA:436245
HP:0025668	Abnormal neck morphology	6399	TRAPPC2	ORPHA:93284
HP:0025668	Abnormal neck morphology	6399	TRAPPC2	OMIM:313400
HP:0025668	Abnormal neck morphology	9131	AIFM1	OMIM:300232
HP:0025668	Abnormal neck morphology	5393	EXOSC9	OMIM:618065
HP:0025668	Abnormal neck morphology	26128	KIFBP	OMIM:609460
HP:0025668	Abnormal neck morphology	118429	ANTXR2	ORPHA:2176
HP:0025668	Abnormal neck morphology	7169	TPM2	ORPHA:171436
HP:0025668	Abnormal neck morphology	7169	TPM2	ORPHA:1147
HP:0025668	Abnormal neck morphology	4703	NEB	ORPHA:171436
HP:0025668	Abnormal neck morphology	10324	KLHL41	ORPHA:171436
HP:0025668	Abnormal neck morphology	56203	LMOD3	ORPHA:171436
HP:0025668	Abnormal neck morphology	1073	CFL2	ORPHA:171436
HP:0025668	Abnormal neck morphology	4010	LMX1B	ORPHA:495818
HP:0025668	Abnormal neck morphology	6812	STXBP1	ORPHA:495818
HP:0025668	Abnormal neck morphology	1717	DHCR7	ORPHA:818
HP:0025668	Abnormal neck morphology	55780	ERMARD	ORPHA:75857
HP:0025668	Abnormal neck morphology	10978	CLP1	OMIM:615803
HP:0025668	Abnormal neck morphology	26153	KIF26A	OMIM:620156
HP:0025668	Abnormal neck morphology	84992	PIGY	ORPHA:247262
HP:0025668	Abnormal neck morphology	84992	PIGY	OMIM:616809
HP:0025668	Abnormal neck morphology	84720	PIGO	ORPHA:247262
HP:0025668	Abnormal neck morphology	93210	PGAP3	ORPHA:247262
HP:0025668	Abnormal neck morphology	284098	PIGW	ORPHA:247262
HP:0025668	Abnormal neck morphology	27315	PGAP2	ORPHA:247262
HP:0025668	Abnormal neck morphology	55650	PIGV	ORPHA:247262
HP:0025668	Abnormal neck morphology	9487	PIGL	ORPHA:247262
HP:0025668	Abnormal neck morphology	3899	AFF3	OMIM:619297
HP:0025668	Abnormal neck morphology	1009	CDH11	ORPHA:1299
HP:0025668	Abnormal neck morphology	79867	TCTN2	OMIM:613885
HP:0025668	Abnormal neck morphology	1302	COL11A2	ORPHA:2021
HP:0025668	Abnormal neck morphology	1302	COL11A2	ORPHA:1427
HP:0025668	Abnormal neck morphology	79053	ALG8	OMIM:608104
HP:0025668	Abnormal neck morphology	3756	KCNH1	ORPHA:3473
HP:0025668	Abnormal neck morphology	3782	KCNN3	ORPHA:3473
HP:0025668	Abnormal neck morphology	3425	IDUA	OMIM:607014
HP:0025668	Abnormal neck morphology	3425	IDUA	OMIM:607016
HP:0025668	Abnormal neck morphology	3425	IDUA	ORPHA:93473
HP:0025668	Abnormal neck morphology	6911	TBX6	OMIM:122600
HP:0025668	Abnormal neck morphology	6911	TBX6	ORPHA:1797
HP:0025668	Abnormal neck morphology	374654	KIF7	OMIM:607131
HP:0025668	Abnormal neck morphology	9653	HS2ST1	OMIM:619194
HP:0025668	Abnormal neck morphology	5626	PROP1	ORPHA:226307
HP:0025668	Abnormal neck morphology	89884	LHX4	ORPHA:226307
HP:0025668	Abnormal neck morphology	5449	POU1F1	ORPHA:226307
HP:0025668	Abnormal neck morphology	8820	HESX1	ORPHA:226307
HP:0025668	Abnormal neck morphology	1857	DVL3	ORPHA:3107
HP:0025668	Abnormal neck morphology	1857	DVL3	OMIM:616894
HP:0025668	Abnormal neck morphology	2535	FZD2	ORPHA:3107
HP:0025668	Abnormal neck morphology	285175	UNC80	OMIM:616801
HP:0025668	Abnormal neck morphology	285175	UNC80	ORPHA:371364
HP:0025668	Abnormal neck morphology	10236	HNRNPR	OMIM:620073
HP:0025668	Abnormal neck morphology	4089	SMAD4	OMIM:139210
HP:0025668	Abnormal neck morphology	546	ATRX	OMIM:309580
HP:0025668	Abnormal neck morphology	7140	TNNT3	ORPHA:1147
HP:0025668	Abnormal neck morphology	7136	TNNI2	ORPHA:1147
HP:0025668	Abnormal neck morphology	6611	SMS	OMIM:309583
HP:0025668	Abnormal neck morphology	51322	WAC	OMIM:616708
HP:0025668	Abnormal neck morphology	2010	EMD	ORPHA:98863
HP:0025668	Abnormal neck morphology	701	BUB1B	OMIM:257300
HP:0025668	Abnormal neck morphology	2702	GJA5	OMIM:612474
HP:0025668	Abnormal neck morphology	2703	GJA8	OMIM:612474
HP:0025668	Abnormal neck morphology	51025	PAM16	OMIM:613320
HP:0025668	Abnormal neck morphology	4352	MPL	ORPHA:3319
HP:0025668	Abnormal neck morphology	7066	THPO	ORPHA:3319
HP:0025668	Abnormal neck morphology	2245	FGD1	ORPHA:915
HP:0025668	Abnormal neck morphology	2245	FGD1	OMIM:305400
HP:0025668	Abnormal neck morphology	6888	TALDO1	OMIM:606003
HP:0025668	Abnormal neck morphology	2261	FGFR3	OMIM:187600
HP:0025668	Abnormal neck morphology	55906	ZC4H2	OMIM:301041
HP:0025668	Abnormal neck morphology	55906	ZC4H2	OMIM:314580
HP:0025668	Abnormal neck morphology	27238	GPKOW	ORPHA:2570
HP:0025668	Abnormal neck morphology	579	NKX3-2	OMIM:613330
HP:0025668	Abnormal neck morphology	2335	FN1	ORPHA:93315
HP:0025668	Abnormal neck morphology	9759	HDAC4	ORPHA:1001
HP:0025668	Abnormal neck morphology	113179	ADAT3	ORPHA:363528
HP:0025668	Abnormal neck morphology	3313	HSPA9	OMIM:616854
HP:0025668	Abnormal neck morphology	91869	RFT1	OMIM:612015
HP:0025668	Abnormal neck morphology	4204	MECP2	OMIM:300055
HP:0025668	Abnormal neck morphology	2068	ERCC2	ORPHA:1466
HP:0025668	Abnormal neck morphology	2067	ERCC1	ORPHA:1466
HP:0025668	Abnormal neck morphology	2074	ERCC6	ORPHA:1466
HP:0025668	Abnormal neck morphology	2073	ERCC5	ORPHA:1466
HP:0025668	Abnormal neck morphology	5925	RB1	ORPHA:1587
HP:0025668	Abnormal neck morphology	23511	NUP188	OMIM:618804
HP:0025668	Abnormal neck morphology	134701	RIPPLY2	ORPHA:2311
HP:0025668	Abnormal neck morphology	3955	LFNG	ORPHA:2311
HP:0025668	Abnormal neck morphology	64131	XYLT1	OMIM:615777
HP:0025668	Abnormal neck morphology	64131	XYLT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	10943	MSL3	OMIM:301032
HP:0025668	Abnormal neck morphology	55969	RAB5IF	OMIM:616994
HP:0025668	Abnormal neck morphology	6638	SNRPN	ORPHA:177907
HP:0025668	Abnormal neck morphology	10367	MICU1	OMIM:615673
HP:0025668	Abnormal neck morphology	2588	GALNS	OMIM:253000
HP:0025668	Abnormal neck morphology	54361	WNT4	ORPHA:247768
HP:0025668	Abnormal neck morphology	91461	PKDCC	OMIM:618821
HP:0025668	Abnormal neck morphology	6182	MRPL12	OMIM:618951
HP:0025668	Abnormal neck morphology	202018	TAPT1	OMIM:616897
HP:0025668	Abnormal neck morphology	1806	DPYD	ORPHA:1675
HP:0025668	Abnormal neck morphology	28957	MRPS28	OMIM:618958
HP:0025668	Abnormal neck morphology	10225	CD96	ORPHA:1308
HP:0025668	Abnormal neck morphology	55790	CSGALNACT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	83452	RAB33B	OMIM:615222
HP:0025668	Abnormal neck morphology	22861	NLRP1	OMIM:615225
HP:0025668	Abnormal neck morphology	1630	DCC	ORPHA:2744
HP:0025668	Abnormal neck morphology	8925	HERC1	ORPHA:457359
HP:0025668	Abnormal neck morphology	8925	HERC1	OMIM:617011
HP:0025668	Abnormal neck morphology	2316	FLNA	OMIM:309350
HP:0025668	Abnormal neck morphology	2138	EYA1	OMIM:166780
HP:0025668	Abnormal neck morphology	538	ATP7A	OMIM:304150
HP:0025668	Abnormal neck morphology	11128	POLR3A	OMIM:264090
HP:0025668	Abnormal neck morphology	2556	GABRA3	OMIM:301091
HP:0025668	Abnormal neck morphology	58	ACTA1	ORPHA:97240
HP:0025668	Abnormal neck morphology	10749	KIF1C	ORPHA:397946
HP:0025668	Abnormal neck morphology	10749	KIF1C	OMIM:611302
HP:0025668	Abnormal neck morphology	2643	GCH1	OMIM:128230
HP:0025668	Abnormal neck morphology	2643	GCH1	ORPHA:98808
HP:0025668	Abnormal neck morphology	2774	GNAL	OMIM:615073
HP:0025668	Abnormal neck morphology	2774	GNAL	ORPHA:329466
HP:0025668	Abnormal neck morphology	1356	CP	OMIM:604290
HP:0025668	Abnormal neck morphology	1356	CP	ORPHA:48818
HP:0025668	Abnormal neck morphology	478	ATP1A3	OMIM:128235
HP:0025668	Abnormal neck morphology	478	ATP1A3	ORPHA:71517
HP:0025668	Abnormal neck morphology	3208	HPCA	ORPHA:99657
HP:0025668	Abnormal neck morphology	3208	HPCA	OMIM:224500
HP:0025668	Abnormal neck morphology	5575	PRKAR1B	OMIM:619680
HP:0025668	Abnormal neck morphology	55187	VPS13D	OMIM:607317
HP:0025668	Abnormal neck morphology	91754	NEK9	OMIM:617022
HP:0025668	Abnormal neck morphology	81790	RNF170	OMIM:619686
HP:0025668	Abnormal neck morphology	387119	CEP85L	OMIM:618873
HP:0025668	Abnormal neck morphology	3781	KCNN2	OMIM:619724
HP:0025668	Abnormal neck morphology	1644	DDC	OMIM:608643
HP:0025668	Abnormal neck morphology	64221	ROBO3	OMIM:607313
HP:0025668	Abnormal neck morphology	63982	ANO3	ORPHA:420485
HP:0025668	Abnormal neck morphology	63982	ANO3	OMIM:615034
HP:0025668	Abnormal neck morphology	343641	TGM6	OMIM:613908
HP:0025668	Abnormal neck morphology	343641	TGM6	ORPHA:276193
HP:0025668	Abnormal neck morphology	8575	PRKRA	ORPHA:210571
HP:0025668	Abnormal neck morphology	64601	VPS16	OMIM:619291
HP:0025668	Abnormal neck morphology	25953	PNKD	OMIM:118800
HP:0025668	Abnormal neck morphology	25953	PNKD	ORPHA:98810
HP:0025668	Abnormal neck morphology	116228	COX20	OMIM:619054
HP:0025668	Abnormal neck morphology	10381	TUBB3	ORPHA:300570
HP:0025668	Abnormal neck morphology	54834	GDAP2	OMIM:618369
HP:0025668	Abnormal neck morphology	23400	ATP13A2	OMIM:606693
HP:0025668	Abnormal neck morphology	7703	PCGF2	OMIM:618371
HP:0025668	Abnormal neck morphology	773	CACNA1A	ORPHA:97
HP:0025668	Abnormal neck morphology	773	CACNA1A	ORPHA:71518
HP:0025668	Abnormal neck morphology	1813	DRD2	ORPHA:36899
HP:0025668	Abnormal neck morphology	8910	SGCE	ORPHA:36899
HP:0025668	Abnormal neck morphology	8910	SGCE	OMIM:159900
HP:0025668	Abnormal neck morphology	79734	KCTD17	ORPHA:36899
HP:0025668	Abnormal neck morphology	79734	KCTD17	OMIM:616398
HP:0025668	Abnormal neck morphology	1861	TOR1A	ORPHA:36899
HP:0025668	Abnormal neck morphology	1861	TOR1A	OMIM:128100
HP:0025668	Abnormal neck morphology	84504	NKX6-2	OMIM:617560
HP:0025668	Abnormal neck morphology	10935	PRDX3	OMIM:619862
HP:0025668	Abnormal neck morphology	9757	KMT2B	OMIM:617284
HP:0025668	Abnormal neck morphology	9757	KMT2B	ORPHA:589618
HP:0025668	Abnormal neck morphology	2313	FLI1	ORPHA:370348
HP:0025668	Abnormal neck morphology	112476	PRRT2	ORPHA:98810
HP:0025668	Abnormal neck morphology	1267	CNP	OMIM:619071
HP:0025668	Abnormal neck morphology	8558	CDK10	OMIM:617694
HP:0025668	Abnormal neck morphology	6711	SPTBN1	OMIM:619475
HP:0025668	Abnormal neck morphology	4929	NR4A2	ORPHA:98808
HP:0025668	Abnormal neck morphology	3615	IMPDH2	ORPHA:98808
HP:0025668	Abnormal neck morphology	10382	TUBB4A	ORPHA:98805
HP:0025668	Abnormal neck morphology	10382	TUBB4A	OMIM:128101
HP:0025668	Abnormal neck morphology	7701	ZNF142	OMIM:618425
HP:0025668	Abnormal neck morphology	55145	THAP1	ORPHA:98806
HP:0025668	Abnormal neck morphology	55145	THAP1	OMIM:602629
HP:0025668	Abnormal neck morphology	3098	HK1	OMIM:618547
HP:0025668	Abnormal neck morphology	55823	VPS11	OMIM:619637
HP:0025668	Abnormal neck morphology	3748	KCNC3	ORPHA:98768
HP:0025668	Abnormal neck morphology	80036	TRPM3	OMIM:620224
HP:0025668	Abnormal neck morphology	11198	SUPT16H	OMIM:619480
HP:0025668	Abnormal neck morphology	78989	COLEC11	OMIM:265050
HP:0025668	Abnormal neck morphology	128240	NAXE	OMIM:617186
HP:0025668	Abnormal neck morphology	4617	MYF5	OMIM:618155
HP:0025668	Abnormal neck morphology	6663	SOX10	OMIM:609136
HP:0025668	Abnormal neck morphology	6908	TBP	ORPHA:98759
HP:0025668	Abnormal neck morphology	126792	B3GALT6	ORPHA:536467
HP:0025668	Abnormal neck morphology	2898	GRIK2	OMIM:611092
HP:0025668	Abnormal neck morphology	256472	TMEM151A	OMIM:620245
HP:0025668	Abnormal neck morphology	3679	ITGA7	OMIM:613204
HP:0025668	Abnormal neck morphology	7042	TGFB2	OMIM:614816
HP:0025668	Abnormal neck morphology	6342	SCP2	OMIM:613724
HP:0025668	Abnormal neck morphology	59341	TRPV4	OMIM:181405
HP:0025668	Abnormal neck morphology	10128	LRPPRC	OMIM:220111
HP:0025668	Abnormal neck morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0025668	Abnormal neck morphology	23556	PIGN	ORPHA:2059
HP:0025668	Abnormal neck morphology	7355	SLC35A2	ORPHA:356961
HP:0025668	Abnormal neck morphology	526	ATP6V1B2	ORPHA:79500
HP:0025668	Abnormal neck morphology	57465	TBC1D24	ORPHA:79500
HP:0025668	Abnormal neck morphology	57465	TBC1D24	OMIM:220500
HP:0025668	Abnormal neck morphology	29968	PSAT1	ORPHA:284417
HP:0025668	Abnormal neck morphology	25978	CHMP2B	ORPHA:275864
HP:0025668	Abnormal neck morphology	25978	CHMP2B	ORPHA:100070
HP:0025668	Abnormal neck morphology	5663	PSEN1	ORPHA:275864
HP:0025668	Abnormal neck morphology	5663	PSEN1	ORPHA:100070
HP:0025668	Abnormal neck morphology	2896	GRN	ORPHA:275864
HP:0025668	Abnormal neck morphology	2896	GRN	ORPHA:100070
HP:0025668	Abnormal neck morphology	54664	TMEM106B	ORPHA:275864
HP:0025668	Abnormal neck morphology	54664	TMEM106B	ORPHA:100070
HP:0025668	Abnormal neck morphology	8878	SQSTM1	ORPHA:275864
HP:0025668	Abnormal neck morphology	4137	MAPT	ORPHA:275864
HP:0025668	Abnormal neck morphology	4137	MAPT	ORPHA:100070
HP:0025668	Abnormal neck morphology	54209	TREM2	ORPHA:275864
HP:0025668	Abnormal neck morphology	54209	TREM2	ORPHA:100070
HP:0025668	Abnormal neck morphology	7415	VCP	ORPHA:275864
HP:0025668	Abnormal neck morphology	7415	VCP	ORPHA:100070
HP:0025668	Abnormal neck morphology	5167	ENPP1	ORPHA:758
HP:0025668	Abnormal neck morphology	368	ABCC6	ORPHA:758
HP:0025668	Abnormal neck morphology	55670	PEX26	ORPHA:912
HP:0025668	Abnormal neck morphology	5824	PEX19	ORPHA:912
HP:0025668	Abnormal neck morphology	5828	PEX2	ORPHA:912
HP:0025668	Abnormal neck morphology	8504	PEX3	ORPHA:912
HP:0025668	Abnormal neck morphology	8799	PEX11B	ORPHA:912
HP:0025668	Abnormal neck morphology	9409	PEX16	ORPHA:912
HP:0025668	Abnormal neck morphology	5190	PEX6	ORPHA:912
HP:0025668	Abnormal neck morphology	5830	PEX5	ORPHA:912
HP:0025668	Abnormal neck morphology	5193	PEX12	ORPHA:912
HP:0025668	Abnormal neck morphology	5194	PEX13	ORPHA:912
HP:0025668	Abnormal neck morphology	5195	PEX14	ORPHA:912
HP:0025668	Abnormal neck morphology	5192	PEX10	ORPHA:912
HP:0025668	Abnormal neck morphology	3476	IGBP1	OMIM:300472
HP:0025668	Abnormal neck morphology	9895	TECPR2	ORPHA:320385
HP:0025668	Abnormal neck morphology	9895	TECPR2	OMIM:615031
HP:0025668	Abnormal neck morphology	145173	B3GLCT	OMIM:261540
HP:0025668	Abnormal neck morphology	9968	MED12	ORPHA:93932
HP:0025668	Abnormal neck morphology	7476	WNT7A	OMIM:276820
HP:0025668	Abnormal neck morphology	6513	SLC2A1	ORPHA:168577
HP:0025668	Abnormal neck morphology	219844	HYLS1	OMIM:236680
HP:0025668	Abnormal neck morphology	6840	SVIL	OMIM:619040
HP:0025668	Abnormal neck morphology	23116	TOGARAM1	OMIM:619185
HP:0025668	Abnormal neck morphology	7750	ZMYM2	OMIM:619522
HP:0025668	Abnormal neck morphology	5718	PSMD12	ORPHA:529962
HP:0025668	Abnormal neck morphology	2186	BPTF	ORPHA:529962
HP:0025668	Abnormal neck morphology	57647	DHX37	OMIM:618731
HP:0025668	Abnormal neck morphology	84667	HES7	OMIM:613686
HP:0025668	Abnormal neck morphology	1954	MEGF8	OMIM:614976
HP:0025668	Abnormal neck morphology	5426	POLE	OMIM:618336
HP:0025668	Abnormal neck morphology	7291	TWIST1	OMIM:617746
HP:0025668	Abnormal neck morphology	10982	MAPRE2	OMIM:616734
HP:0025668	Abnormal neck morphology	6231	RPS26	OMIM:613309
HP:0025668	Abnormal neck morphology	2273	FHL1	OMIM:300280
HP:0025668	Abnormal neck morphology	26227	PHGDH	OMIM:256520
HP:0025668	Abnormal neck morphology	9382	COG1	ORPHA:263508
HP:0025668	Abnormal neck morphology	3930	LBR	OMIM:215140
HP:0025668	Abnormal neck morphology	4927	NUP88	ORPHA:994
HP:0025668	Abnormal neck morphology	7846	TUBA1A	ORPHA:994
HP:0025668	Abnormal neck morphology	4654	MYOD1	ORPHA:994
HP:0025668	Abnormal neck morphology	4654	MYOD1	OMIM:618975
HP:0025668	Abnormal neck morphology	4593	MUSK	ORPHA:994
HP:0025668	Abnormal neck morphology	4593	MUSK	OMIM:208150
HP:0025668	Abnormal neck morphology	5913	RAPSN	ORPHA:994
HP:0025668	Abnormal neck morphology	6572	SLC18A3	ORPHA:994
HP:0025668	Abnormal neck morphology	285489	DOK7	ORPHA:994
HP:0025668	Abnormal neck morphology	2294	FOXF1	OMIM:265380
HP:0025668	Abnormal neck morphology	84231	TRAF7	OMIM:618164
HP:0025668	Abnormal neck morphology	23483	TGDS	OMIM:616145
HP:0025668	Abnormal neck morphology	94005	PIGS	OMIM:618143
HP:0025668	Abnormal neck morphology	57539	WDR35	OMIM:613610
HP:0025668	Abnormal neck morphology	57539	WDR35	OMIM:614091
HP:0025668	Abnormal neck morphology	1836	SLC26A2	ORPHA:93298
HP:0025668	Abnormal neck morphology	9321	TRIP11	ORPHA:93299
HP:0025668	Abnormal neck morphology	55165	CEP55	OMIM:236500
HP:0025668	Abnormal neck morphology	3190	HNRNPK	ORPHA:352665
HP:0025668	Abnormal neck morphology	3190	HNRNPK	ORPHA:453504
HP:0025668	Abnormal neck morphology	157570	ESCO2	OMIM:268300
HP:0025668	Abnormal neck morphology	1280	COL2A1	OMIM:200610
HP:0025668	Abnormal neck morphology	9578	CDC42BPB	OMIM:619841
HP:0025668	Abnormal neck morphology	55640	FLVCR2	OMIM:225790
HP:0025668	Abnormal neck morphology	2303	FOXC2	OMIM:153400
HP:0025668	Abnormal neck morphology	84162	BLTP1	OMIM:617822
HP:0025668	Abnormal neck morphology	112752	IFT43	OMIM:617866
HP:0025668	Abnormal neck morphology	55784	MCTP2	ORPHA:1596
HP:0025668	Abnormal neck morphology	1144	CHRND	OMIM:253290
HP:0025668	Abnormal neck morphology	1134	CHRNA1	OMIM:253290
HP:0025668	Abnormal neck morphology	51259	TMEM216	OMIM:603194
HP:0025668	Abnormal neck morphology	10683	DLL3	OMIM:277300
HP:0025668	Abnormal neck morphology	145873	MESP2	OMIM:277300
HP:0025668	Abnormal neck morphology	3911	LAMA5	OMIM:620076
HP:0025668	Abnormal neck morphology	29980	DONSON	OMIM:251230
HP:0025668	Abnormal neck morphology	64132	XYLT2	OMIM:605822
HP:0025668	Abnormal neck morphology	64132	XYLT2	ORPHA:85194
HP:0025668	Abnormal neck morphology	3479	IGF1	ORPHA:73272
HP:0025668	Abnormal neck morphology	324	APC	ORPHA:261584
HP:0025668	Abnormal neck morphology	1947	EFNB1	ORPHA:1520
HP:0025668	Abnormal neck morphology	1947	EFNB1	OMIM:304110
HP:0025668	Abnormal neck morphology	161742	SPRED1	OMIM:611431
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:115150
HP:0025668	Abnormal neck morphology	673	BRAF	ORPHA:1340
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:613707
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:613706
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:163950
HP:0025668	Abnormal neck morphology	79650	USB1	OMIM:604173
HP:0025668	Abnormal neck morphology	10847	SRCAP	OMIM:136140
HP:0025668	Abnormal neck morphology	3020	H3-3A	OMIM:619720
HP:0025668	Abnormal neck morphology	23030	KDM4B	OMIM:619320
HP:0025668	Abnormal neck morphology	5184	PEPD	OMIM:170100
HP:0025668	Abnormal neck morphology	4893	NRAS	OMIM:613224
HP:0025668	Abnormal neck morphology	4893	NRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	65082	VPS33A	OMIM:617303
HP:0025668	Abnormal neck morphology	80055	PGAP1	OMIM:615802
HP:0025668	Abnormal neck morphology	25782	RAB3GAP2	OMIM:212720
HP:0025668	Abnormal neck morphology	25782	RAB3GAP2	ORPHA:1387
HP:0025668	Abnormal neck morphology	3764	KCNJ8	ORPHA:1517
HP:0025668	Abnormal neck morphology	10060	ABCC9	ORPHA:1517
HP:0025668	Abnormal neck morphology	4297	KMT2A	OMIM:605130
HP:0025668	Abnormal neck morphology	4763	NF1	OMIM:601321
HP:0025668	Abnormal neck morphology	55777	MBD5	OMIM:156200
HP:0025668	Abnormal neck morphology	165	AEBP1	OMIM:618000
HP:0025668	Abnormal neck morphology	10265	IRX5	OMIM:611174
HP:0025668	Abnormal neck morphology	5604	MAP2K1	ORPHA:1340
HP:0025668	Abnormal neck morphology	5604	MAP2K1	OMIM:163950
HP:0025668	Abnormal neck morphology	5605	MAP2K2	ORPHA:1340
HP:0025668	Abnormal neck morphology	3845	KRAS	ORPHA:1340
HP:0025668	Abnormal neck morphology	3845	KRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	1000	CDH2	OMIM:618929
HP:0025668	Abnormal neck morphology	7020	TFAP2A	OMIM:113620
HP:0025668	Abnormal neck morphology	7319	UBE2A	OMIM:300860
HP:0025668	Abnormal neck morphology	7319	UBE2A	ORPHA:163956
HP:0025668	Abnormal neck morphology	10815	CPLX1	ORPHA:280
HP:0025668	Abnormal neck morphology	10815	CPLX1	OMIM:194190
HP:0025668	Abnormal neck morphology	54872	PIGG	ORPHA:280
HP:0025668	Abnormal neck morphology	7469	NELFA	ORPHA:280
HP:0025668	Abnormal neck morphology	1487	CTBP1	ORPHA:280
HP:0025668	Abnormal neck morphology	1487	CTBP1	OMIM:194190
HP:0025668	Abnormal neck morphology	3954	LETM1	ORPHA:280
HP:0025668	Abnormal neck morphology	3954	LETM1	OMIM:194190
HP:0025668	Abnormal neck morphology	7468	NSD2	ORPHA:280
HP:0025668	Abnormal neck morphology	7468	NSD2	OMIM:194190
HP:0025668	Abnormal neck morphology	8036	SHOC2	ORPHA:2701
HP:0025668	Abnormal neck morphology	5500	PPP1CB	ORPHA:2701
HP:0025668	Abnormal neck morphology	5500	PPP1CB	OMIM:617506
HP:0025668	Abnormal neck morphology	4854	NOTCH3	ORPHA:2789
HP:0025668	Abnormal neck morphology	51729	WBP11	OMIM:619227
HP:0025668	Abnormal neck morphology	200734	SPRED2	OMIM:619745
HP:0025668	Abnormal neck morphology	200734	SPRED2	ORPHA:648
HP:0025668	Abnormal neck morphology	6602	SMARCD1	OMIM:618779
HP:0025668	Abnormal neck morphology	53834	FGFRL1	OMIM:194190
HP:0025668	Abnormal neck morphology	6234	RPS28	OMIM:606164
HP:0025668	Abnormal neck morphology	60	ACTB	OMIM:243310
HP:0025668	Abnormal neck morphology	60	ACTB	ORPHA:2995
HP:0025668	Abnormal neck morphology	57167	SALL4	ORPHA:233
HP:0025668	Abnormal neck morphology	9935	MAFB	ORPHA:233
HP:0025668	Abnormal neck morphology	1123	CHN1	ORPHA:233
HP:0025668	Abnormal neck morphology	23476	BRD4	ORPHA:199
HP:0025668	Abnormal neck morphology	9126	SMC3	ORPHA:199
HP:0025668	Abnormal neck morphology	8243	SMC1A	ORPHA:199
HP:0025668	Abnormal neck morphology	25836	NIPBL	ORPHA:199
HP:0025668	Abnormal neck morphology	25836	NIPBL	OMIM:122470
HP:0025668	Abnormal neck morphology	55869	HDAC8	ORPHA:199
HP:0025668	Abnormal neck morphology	5885	RAD21	ORPHA:199
HP:0025668	Abnormal neck morphology	392255	GDF6	OMIM:118100
HP:0025668	Abnormal neck morphology	392255	GDF6	ORPHA:2345
HP:0025668	Abnormal neck morphology	1387	CREBBP	OMIM:180849
HP:0025668	Abnormal neck morphology	2033	EP300	OMIM:180849
HP:0025668	Abnormal neck morphology	29957	SLC25A24	OMIM:612289
HP:0025668	Abnormal neck morphology	79005	SCNM1	OMIM:620107
HP:0025668	Abnormal neck morphology	4784	NFIX	ORPHA:420179
HP:0025668	Abnormal neck morphology	54499	TMCO1	OMIM:213980
HP:0025668	Abnormal neck morphology	54499	TMCO1	ORPHA:1394
HP:0025668	Abnormal neck morphology	5293	PIK3CD	ORPHA:221139
HP:0025668	Abnormal neck morphology	90417	KNSTRN	ORPHA:221139
HP:0025668	Abnormal neck morphology	79796	ALG9	ORPHA:79328
HP:0025668	Abnormal neck morphology	8567	MADD	OMIM:619004
HP:0025668	Abnormal neck morphology	374879	ZNF699	OMIM:619488
HP:0025668	Abnormal neck morphology	5594	MAPK1	OMIM:619087
HP:0025668	Abnormal neck morphology	28952	CCDC22	OMIM:300963
HP:0025668	Abnormal neck morphology	4849	CNOT3	OMIM:618672
HP:0025668	Abnormal neck morphology	226	ALDOA	OMIM:611881
HP:0025668	Abnormal neck morphology	4222	MEOX1	OMIM:214300
HP:0025668	Abnormal neck morphology	4222	MEOX1	ORPHA:2345
HP:0025668	Abnormal neck morphology	80267	EDEM3	OMIM:619493
HP:0025668	Abnormal neck morphology	9897	WASHC5	OMIM:220210
HP:0025668	Abnormal neck morphology	10020	GNE	OMIM:269921
HP:0025668	Abnormal neck morphology	5286	PIK3C2A	OMIM:618440
HP:0025668	Abnormal neck morphology	738	VPS51	OMIM:618606
HP:0025668	Abnormal neck morphology	22930	RAB3GAP1	ORPHA:1387
HP:0025668	Abnormal neck morphology	23133	PHF8	ORPHA:85287
HP:0025668	Abnormal neck morphology	23133	PHF8	OMIM:300263
HP:0025668	Abnormal neck morphology	54187	NANS	OMIM:610442
HP:0025668	Abnormal neck morphology	84700	MYO18B	OMIM:616549
HP:0025668	Abnormal neck morphology	22800	RRAS2	ORPHA:648
HP:0025668	Abnormal neck morphology	867	CBL	ORPHA:648
HP:0025668	Abnormal neck morphology	867	CBL	OMIM:613563
HP:0025668	Abnormal neck morphology	8216	LZTR1	ORPHA:648
HP:0025668	Abnormal neck morphology	8216	LZTR1	OMIM:605275
HP:0025668	Abnormal neck morphology	6016	RIT1	ORPHA:648
HP:0025668	Abnormal neck morphology	6237	RRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	5894	RAF1	ORPHA:648
HP:0025668	Abnormal neck morphology	22808	MRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	6654	SOS1	ORPHA:648
HP:0025668	Abnormal neck morphology	6655	SOS2	ORPHA:648
HP:0025668	Abnormal neck morphology	5781	PTPN11	ORPHA:648
HP:0025668	Abnormal neck morphology	5781	PTPN11	OMIM:163950
HP:0025668	Abnormal neck morphology	5922	RASA2	ORPHA:648
HP:0025668	Abnormal neck morphology	4621	MYH3	ORPHA:2990
HP:0025668	Abnormal neck morphology	1146	CHRNG	ORPHA:2990
HP:0025668	Abnormal neck morphology	5468	PPARG	ORPHA:528
HP:0025668	Abnormal neck morphology	10555	AGPAT2	ORPHA:528
HP:0025668	Abnormal neck morphology	284119	CAVIN1	ORPHA:528
HP:0025668	Abnormal neck morphology	26580	BSCL2	ORPHA:528
HP:0025668	Abnormal neck morphology	2353	FOS	ORPHA:528
HP:0025668	Abnormal neck morphology	857	CAV1	ORPHA:528
HP:0025668	Abnormal neck morphology	6913	TBX15	ORPHA:93333
HP:0025668	Abnormal neck morphology	79087	ALG12	ORPHA:79324
HP:0025668	Abnormal neck morphology	71	ACTG1	ORPHA:2995
HP:0025668	Abnormal neck morphology	9469	CHST3	OMIM:245600
HP:0025668	Abnormal neck morphology	26229	B3GAT3	OMIM:245600
HP:0025668	Abnormal neck morphology	6595	SMARCA2	OMIM:601358
HP:0025668	Abnormal neck morphology	29123	ANKRD11	OMIM:148050
HP:0025668	Abnormal neck morphology	8621	CDK13	OMIM:617360
HP:0025668	Abnormal neck morphology	9181	ARHGEF2	OMIM:617523
HP:0025668	Abnormal neck morphology	9573	GDF3	ORPHA:2345
HP:0025668	Abnormal neck morphology	6736	SRY	ORPHA:1772
HP:0025668	Abnormal neck morphology	27152	INTU	OMIM:617925
HP:0025668	Abnormal neck morphology	10075	HUWE1	OMIM:309590
HP:0025668	Abnormal neck morphology	57679	ALS2	OMIM:205100
HP:0025668	Abnormal neck morphology	57679	ALS2	ORPHA:300605
HP:0025668	Abnormal neck morphology	2521	FUS	ORPHA:300605
HP:0025668	Abnormal neck morphology	80208	SPG11	ORPHA:300605
HP:0025668	Abnormal neck morphology	10280	SIGMAR1	ORPHA:300605
HP:0025668	Abnormal neck morphology	10558	SPTLC1	ORPHA:300605
HP:0025668	Abnormal neck morphology	1303	COL12A1	ORPHA:536516
HP:0025668	Abnormal neck morphology	8831	SYNGAP1	OMIM:612621
HP:0025668	Abnormal neck morphology	5528	PPP2R5D	OMIM:616355
HP:0025668	Abnormal neck morphology	5528	PPP2R5D	ORPHA:457279
HP:0025668	Abnormal neck morphology	1291	COL6A1	OMIM:158810
HP:0025668	Abnormal neck morphology	1292	COL6A2	OMIM:158810
HP:0025668	Abnormal neck morphology	1293	COL6A3	OMIM:158810
HP:0025668	Abnormal neck morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025668	Abnormal neck morphology	523	ATP6V1A	ORPHA:357074
HP:0025668	Abnormal neck morphology	529	ATP6V1E1	ORPHA:357074
HP:0025668	Abnormal neck morphology	54496	PRMT7	OMIM:617157
HP:0025668	Abnormal neck morphology	8260	NAA10	OMIM:300855
HP:0025668	Abnormal neck morphology	2006	ELN	ORPHA:90348
HP:0025668	Abnormal neck morphology	10516	FBLN5	ORPHA:90348
HP:0025668	Abnormal neck morphology	5832	ALDH18A1	ORPHA:90348
HP:0025668	Abnormal neck morphology	55593	OTUD5	OMIM:301056
HP:0025668	Abnormal neck morphology	9896	FIG4	OMIM:216340
HP:0025668	Abnormal neck morphology	9896	FIG4	ORPHA:3472
HP:0025668	Abnormal neck morphology	56945	MRPS22	OMIM:611719
HP:0025668	Abnormal neck morphology	79848	CSPP1	ORPHA:397715
HP:0025668	Abnormal neck morphology	9786	KIAA0586	ORPHA:397715
HP:0025668	Abnormal neck morphology	10682	EBP	OMIM:300960
HP:0025668	Abnormal neck morphology	55697	VAC14	ORPHA:3472
HP:0025668	Abnormal neck morphology	4716	NDUFB10	OMIM:619003
HP:0025668	Abnormal neck morphology	285590	SH3PXD2B	OMIM:249420
HP:0025668	Abnormal neck morphology	22884	WDR37	OMIM:618652
HP:0025668	Abnormal neck morphology	2623	GATA1	OMIM:190685
HP:0025668	Abnormal neck morphology	388015	RTL1	ORPHA:254528
HP:0025668	Abnormal neck morphology	388015	RTL1	ORPHA:96334
HP:0025668	Abnormal neck morphology	8788	DLK1	ORPHA:254528
HP:0025668	Abnormal neck morphology	8788	DLK1	ORPHA:96334
HP:0025668	Abnormal neck morphology	55384	MEG3	ORPHA:254528
HP:0025668	Abnormal neck morphology	55384	MEG3	ORPHA:96334
HP:0025668	Abnormal neck morphology	2263	FGFR2	OMIM:123790
HP:0025668	Abnormal neck morphology	51021	MRPS16	OMIM:610498
HP:0025668	Abnormal neck morphology	124997	WDR81	OMIM:617967
HP:0025668	Abnormal neck morphology	3265	HRAS	OMIM:218040
HP:0025668	Abnormal neck morphology	2683	B4GALT1	ORPHA:79332
HP:0025668	Abnormal neck morphology	5189	PEX1	OMIM:214100
HP:0025668	Abnormal neck morphology	10992	SF3B2	OMIM:164210
HP:0025668	Abnormal neck morphology	84172	POLR1B	ORPHA:861
HP:0025668	Abnormal neck morphology	9533	POLR1C	ORPHA:861
HP:0025668	Abnormal neck morphology	51082	POLR1D	ORPHA:861
HP:0025668	Abnormal neck morphology	6949	TCOF1	ORPHA:861
HP:0025668	Abnormal neck morphology	25942	SIN3A	OMIM:613406
HP:0025668	Abnormal neck morphology	6495	SIX1	ORPHA:52429
HP:0025668	Abnormal neck morphology	6495	SIX1	OMIM:113650
HP:0025668	Abnormal neck morphology	613	BCR	ORPHA:261330
HP:0025668	Abnormal neck morphology	1399	CRKL	ORPHA:261330
HP:0025668	Abnormal neck morphology	6134	RPL10	ORPHA:435938
HP:0025668	Abnormal neck morphology	8085	KMT2D	OMIM:620186
HP:0025668	Abnormal neck morphology	147912	SIX5	ORPHA:107
HP:0025668	Abnormal neck morphology	699	BUB1	OMIM:620183
HP:0025668	Abnormal neck morphology	699	BUB1	ORPHA:1052
HP:0025668	Abnormal neck morphology	1725	DHPS	OMIM:618480
HP:0025668	Abnormal neck morphology	104	ADARB1	OMIM:618862
HP:0025668	Abnormal neck morphology	10274	STAG1	OMIM:617635
HP:0025668	Abnormal neck morphology	6804	STX1A	ORPHA:904
HP:0025668	Abnormal neck morphology	7461	CLIP2	ORPHA:904
HP:0025668	Abnormal neck morphology	84277	DNAJC30	ORPHA:904
HP:0025668	Abnormal neck morphology	8468	FKBP6	ORPHA:904
HP:0025668	Abnormal neck morphology	5982	RFC2	ORPHA:904
HP:0025668	Abnormal neck morphology	2969	GTF2I	ORPHA:904
HP:0025668	Abnormal neck morphology	3984	LIMK1	ORPHA:904
HP:0025668	Abnormal neck morphology	9569	GTF2IRD1	ORPHA:904
HP:0025668	Abnormal neck morphology	155382	VPS37D	ORPHA:904
HP:0025668	Abnormal neck morphology	155368	METTL27	ORPHA:904
HP:0025668	Abnormal neck morphology	114049	BUD23	ORPHA:904
HP:0025668	Abnormal neck morphology	7458	EIF4H	ORPHA:904
HP:0025668	Abnormal neck morphology	84163	GTF2IRD2	ORPHA:904
HP:0025668	Abnormal neck morphology	9275	BCL7B	ORPHA:904
HP:0025668	Abnormal neck morphology	26608	TBL2	ORPHA:904
HP:0025668	Abnormal neck morphology	653361	NCF1	ORPHA:904
HP:0025668	Abnormal neck morphology	135886	TMEM270	ORPHA:904
HP:0025668	Abnormal neck morphology	51085	MLXIPL	ORPHA:904
HP:0025668	Abnormal neck morphology	9031	BAZ1B	ORPHA:904
HP:0025668	Abnormal neck morphology	415	ARSL	ORPHA:79345
HP:0025668	Abnormal neck morphology	83475	DOHH	OMIM:620066
HP:0025668	Abnormal neck morphology	9184	BUB3	ORPHA:1052
HP:0025668	Abnormal neck morphology	9702	CEP57	ORPHA:1052
HP:0025668	Abnormal neck morphology	9319	TRIP13	ORPHA:1052
HP:0025668	Abnormal neck morphology	2050	EPHB4	OMIM:617300
HP:0025668	Abnormal neck morphology	1822	ATN1	OMIM:618494
HP:0025668	Abnormal neck morphology	4953	ODC1	ORPHA:544488
HP:0025668	Abnormal neck morphology	25792	CIZ1	ORPHA:420492
HP:0025668	Abnormal neck morphology	2304	FOXE1	ORPHA:319487
HP:0025668	Abnormal neck morphology	3026	HABP2	ORPHA:319487
HP:0025668	Abnormal neck morphology	9562	MINPP1	ORPHA:319487
HP:0025669	Abnormal neck physiology	9241	NOG	OMIM:184460
HP:0025669	Abnormal neck physiology	392255	GDF6	OMIM:118100
HP:0025669	Abnormal neck physiology	4222	MEOX1	OMIM:214300
HP:0025669	Abnormal neck physiology	6335	SCN9A	ORPHA:33069
HP:0025669	Abnormal neck physiology	6326	SCN2A	ORPHA:33069
HP:0025669	Abnormal neck physiology	2554	GABRA1	ORPHA:33069
HP:0025669	Abnormal neck physiology	6324	SCN1B	ORPHA:33069
HP:0025669	Abnormal neck physiology	57526	PCDH19	ORPHA:33069
HP:0025669	Abnormal neck physiology	2566	GABRG2	ORPHA:33069
HP:0025669	Abnormal neck physiology	90	ACVR1	OMIM:135100
HP:0025669	Abnormal neck physiology	57190	SELENON	OMIM:602771
HP:0025669	Abnormal neck physiology	57190	SELENON	ORPHA:324604
HP:0025669	Abnormal neck physiology	4625	MYH7	ORPHA:324604
HP:0025669	Abnormal neck physiology	4625	MYH7	ORPHA:437572
HP:0025669	Abnormal neck physiology	7273	TTN	ORPHA:324604
HP:0025669	Abnormal neck physiology	2273	FHL1	OMIM:300696
HP:0025669	Abnormal neck physiology	4000	LMNA	OMIM:181350
HP:0025669	Abnormal neck physiology	11160	ERLIN2	ORPHA:209951
HP:0025669	Abnormal neck physiology	4621	MYH3	OMIM:193700
HP:0025669	Abnormal neck physiology	1292	COL6A2	OMIM:255600
HP:0025669	Abnormal neck physiology	91754	NEK9	OMIM:617022
HP:0025669	Abnormal neck physiology	4722	NDUFS3	OMIM:618230
HP:0025669	Abnormal neck physiology	1280	COL2A1	OMIM:616583
HP:0025669	Abnormal neck physiology	22943	DKK1	ORPHA:268882
HP:0025669	Abnormal neck physiology	54820	NDE1	ORPHA:2177
HP:0025669	Abnormal neck physiology	3661	IRF3	OMIM:616532
HP:0025669	Abnormal neck physiology	773	CACNA1A	ORPHA:569
HP:0025669	Abnormal neck physiology	112476	PRRT2	ORPHA:569
HP:0025669	Abnormal neck physiology	6323	SCN1A	ORPHA:569
HP:0025669	Abnormal neck physiology	477	ATP1A2	ORPHA:569
HP:0025669	Abnormal neck physiology	7187	TRAF3	ORPHA:1930
HP:0025669	Abnormal neck physiology	81622	UNC93B1	ORPHA:1930
HP:0025669	Abnormal neck physiology	148022	TICAM1	ORPHA:1930
HP:0025669	Abnormal neck physiology	7098	TLR3	ORPHA:1930
HP:0025669	Abnormal neck physiology	29110	TBK1	ORPHA:1930
HP:0025669	Abnormal neck physiology	29895	MYL11	OMIM:619110
HP:5000011	Anti-GAD65 antibody	93587	TRMT10A	OMIM:616033
HP:0005236	Chronic calcifying pancreatitis	11330	CTRC	ORPHA:103918
HP:0005236	Chronic calcifying pancreatitis	6690	SPINK1	ORPHA:103918
HP:0005235	Jejunal atresia	4613	MYCN	ORPHA:391641
HP:0005235	Jejunal atresia	4613	MYCN	OMIM:164280
HP:0005235	Jejunal atresia	374879	ZNF699	OMIM:619488
HP:0005235	Jejunal atresia	57217	TTC7A	OMIM:243150
HP:0005235	Jejunal atresia	222546	RFX6	OMIM:615710
HP:0005235	Jejunal atresia	4659	PPP1R12A	OMIM:618820
HP:0005235	Jejunal atresia	1063	CENPF	OMIM:243605
HP:0005235	Jejunal atresia	1174	AP1S1	OMIM:609313
HP:0005235	Jejunal atresia	407975	MIR17HG	ORPHA:391646
HP:0005235	Jejunal atresia	8604	SLC25A12	OMIM:612949
HP:0005231	Chronic gastritis	2000	ELF4	OMIM:301074
HP:0005231	Chronic gastritis	10526	IPO8	OMIM:619472
HP:0005231	Chronic gastritis	3514	IGKC	ORPHA:183675
HP:0005231	Chronic gastritis	3501	IGHG2	ORPHA:183675
HP:0005231	Chronic gastritis	54914	FOCAD	OMIM:619991
HP:0005230	Biliary tract obstruction	5244	ABCB4	ORPHA:69663
HP:0005230	Biliary tract obstruction	2629	GBA1	ORPHA:77259
HP:0005230	Biliary tract obstruction	950	SCARB2	ORPHA:77259
HP:0025670	Syntelencephaly	7546	ZIC2	OMIM:609637
HP:0025671	Fetal pericardial effusion	286204	CRB2	OMIM:219730
HP:0025671	Fetal pericardial effusion	29969	MDFIC	OMIM:620014
HP:0025671	Fetal pericardial effusion	23395	LARS2	OMIM:617021
HP:0025671	Fetal pericardial effusion	3190	HNRNPK	OMIM:616580
HP:0025671	Fetal pericardial effusion	55901	THSD1	OMIM:620244
HP:0025671	Fetal pericardial effusion	6007	RHD	OMIM:619462
HP:0025672	Fetal skin edema	56945	MRPS22	OMIM:611719
HP:0025676	Fetal pleural effusion	4927	NUP88	OMIM:618393
HP:0025676	Fetal pleural effusion	29969	MDFIC	OMIM:620014
HP:0025676	Fetal pleural effusion	55901	THSD1	OMIM:620244
HP:0025676	Fetal pleural effusion	54675	CRLS1	OMIM:620167
HP:0025676	Fetal pleural effusion	6007	RHD	OMIM:619462
HP:0025677	Fetal chylothorax	29969	MDFIC	OMIM:620014
HP:0005247	Hypoplasia of the abdominal wall musculature	129563	DIS3L2	OMIM:267000
HP:0005247	Hypoplasia of the abdominal wall musculature	29957	SLC25A24	OMIM:612289
HP:0005247	Hypoplasia of the abdominal wall musculature	4126	MANBA	ORPHA:118
HP:0005248	Intrahepatic biliary atresia	9076	CLDN1	OMIM:607626
HP:0005248	Intrahepatic biliary atresia	56623	INPP5E	ORPHA:1454
HP:0005248	Intrahepatic biliary atresia	91147	TMEM67	ORPHA:1454
HP:0005248	Intrahepatic biliary atresia	23322	RPGRIP1L	ORPHA:1454
HP:0005248	Intrahepatic biliary atresia	57545	CC2D2A	ORPHA:1454
HP:0005248	Intrahepatic biliary atresia	26123	TCTN3	OMIM:614815
HP:0005248	Intrahepatic biliary atresia	26276	VPS33B	OMIM:208085
HP:0005249	Functional intestinal obstruction	672	BRCA1	ORPHA:1333
HP:0005249	Functional intestinal obstruction	285282	RABL3	ORPHA:1333
HP:0005249	Functional intestinal obstruction	7157	TP53	ORPHA:1333
HP:0005249	Functional intestinal obstruction	675	BRCA2	ORPHA:1333
HP:0005249	Functional intestinal obstruction	3845	KRAS	ORPHA:1333
HP:0005249	Functional intestinal obstruction	1029	CDKN2A	ORPHA:1333
HP:0005249	Functional intestinal obstruction	79728	PALB2	ORPHA:1333
HP:0005249	Functional intestinal obstruction	4089	SMAD4	ORPHA:1333
HP:0005249	Functional intestinal obstruction	23022	PALLD	ORPHA:1333
HP:0005249	Functional intestinal obstruction	2065	ERBB3	OMIM:243180
HP:0005245	Intestinal hypoplasia	2627	GATA6	OMIM:600001
HP:0005245	Intestinal hypoplasia	2984	GUCY2C	OMIM:614665
HP:0005245	Intestinal hypoplasia	4000	LMNA	ORPHA:1662
HP:0005245	Intestinal hypoplasia	10269	ZMPSTE24	ORPHA:1662
HP:0005245	Intestinal hypoplasia	6663	SOX10	ORPHA:163746
HP:0005245	Intestinal hypoplasia	25802	LMOD1	ORPHA:2241
HP:0005245	Intestinal hypoplasia	25802	LMOD1	OMIM:619362
HP:0005245	Intestinal hypoplasia	4629	MYH11	ORPHA:2241
HP:0005245	Intestinal hypoplasia	4629	MYH11	OMIM:619351
HP:0005245	Intestinal hypoplasia	72	ACTG2	ORPHA:2241
HP:0005245	Intestinal hypoplasia	72	ACTG2	OMIM:155310
HP:0005245	Intestinal hypoplasia	72	ACTG2	OMIM:619431
HP:0005245	Intestinal hypoplasia	4638	MYLK	ORPHA:2241
HP:0005245	Intestinal hypoplasia	1174	AP1S1	OMIM:609313
HP:0005245	Intestinal hypoplasia	4927	NUP88	ORPHA:994
HP:0005245	Intestinal hypoplasia	7846	TUBA1A	ORPHA:994
HP:0005245	Intestinal hypoplasia	4654	MYOD1	ORPHA:994
HP:0005245	Intestinal hypoplasia	4593	MUSK	ORPHA:994
HP:0005245	Intestinal hypoplasia	5913	RAPSN	ORPHA:994
HP:0005245	Intestinal hypoplasia	6572	SLC18A3	ORPHA:994
HP:0005245	Intestinal hypoplasia	285489	DOK7	ORPHA:994
HP:0005245	Intestinal hypoplasia	79827	CLMP	ORPHA:2301
HP:0005245	Intestinal hypoplasia	2316	FLNA	ORPHA:2301
HP:0005244	Gastrointestinal infarctions	26191	PTPN22	ORPHA:397
HP:0005244	Gastrointestinal infarctions	3106	HLA-B	ORPHA:397
HP:0005244	Gastrointestinal infarctions	3106	HLA-B	ORPHA:3287
HP:0005244	Gastrointestinal infarctions	3123	HLA-DRB1	ORPHA:397
HP:0005244	Gastrointestinal infarctions	8974	P4HA2	ORPHA:397
HP:0005244	Gastrointestinal infarctions	4210	MEFV	ORPHA:342
HP:0005244	Gastrointestinal infarctions	1281	COL3A1	ORPHA:286
HP:0005244	Gastrointestinal infarctions	811	CALR	ORPHA:131
HP:0005244	Gastrointestinal infarctions	3717	JAK2	ORPHA:131
HP:0005244	Gastrointestinal infarctions	2153	F5	ORPHA:131
HP:0005244	Gastrointestinal infarctions	7010	TEK	ORPHA:1059
HP:0005244	Gastrointestinal infarctions	6794	STK11	ORPHA:2869
HP:0005244	Gastrointestinal infarctions	3593	IL12B	ORPHA:3287
HP:0005244	Gastrointestinal infarctions	6945	MLX	ORPHA:3287
HP:0005244	Gastrointestinal infarctions	567	B2M	ORPHA:314652
HP:0005243	Partial abdominal muscle agenesis	78989	COLEC11	OMIM:265050
HP:0005241	Total intestinal aganglionosis	1910	EDNRB	OMIM:600501
HP:0025680	Compound muscle action potential amplitude facilitation	127833	SYT2	OMIM:616040
HP:0025681	Distal clavicular thinning	55733	HHAT	OMIM:600092
HP:0025682	Crouch gait	51343	FZR1	OMIM:620145
HP:0031100	Decreased inhibin B level	6638	SNRPN	ORPHA:177904
HP:0031100	Decreased inhibin B level	6638	SNRPN	ORPHA:177901
HP:0031100	Decreased inhibin B level	6638	SNRPN	ORPHA:98754
HP:0031100	Decreased inhibin B level	4692	NDN	ORPHA:177904
HP:0031100	Decreased inhibin B level	4692	NDN	ORPHA:177901
HP:0031100	Decreased inhibin B level	4692	NDN	ORPHA:98754
HP:0031100	Decreased inhibin B level	54551	MAGEL2	ORPHA:177904
HP:0031100	Decreased inhibin B level	54551	MAGEL2	ORPHA:177901
HP:0031100	Decreased inhibin B level	54551	MAGEL2	ORPHA:98754
HP:0031100	Decreased inhibin B level	4948	OCA2	ORPHA:177904
HP:0031100	Decreased inhibin B level	4948	OCA2	ORPHA:177901
HP:0031100	Decreased inhibin B level	4948	OCA2	ORPHA:98754
HP:0031100	Decreased inhibin B level	7516	XRCC2	OMIM:619146
HP:0031100	Decreased inhibin B level	5447	POR	ORPHA:95699
HP:0031101	Abnormal circulating antimullerian hormone concentration	367	AR	ORPHA:90797
HP:0031101	Abnormal circulating antimullerian hormone concentration	367	AR	ORPHA:99429
HP:0031101	Abnormal circulating antimullerian hormone concentration	57697	FANCM	OMIM:618096
HP:0031101	Abnormal circulating antimullerian hormone concentration	57647	DHX37	OMIM:273250
HP:0031101	Abnormal circulating antimullerian hormone concentration	7516	XRCC2	OMIM:619146
HP:0031101	Abnormal circulating antimullerian hormone concentration	317761	C14orf39	OMIM:619203
HP:0031101	Abnormal circulating antimullerian hormone concentration	23514	SPIDR	OMIM:619665
HP:0031101	Abnormal circulating antimullerian hormone concentration	269	AMHR2	OMIM:261550
HP:0031101	Abnormal circulating antimullerian hormone concentration	268	AMH	OMIM:261550
HP:0031101	Abnormal circulating antimullerian hormone concentration	2100	ESR2	OMIM:618187
HP:0031102	Increased circulating antimullerian hormone concentration	367	AR	ORPHA:90797
HP:0031102	Increased circulating antimullerian hormone concentration	367	AR	ORPHA:99429
HP:0031103	Decreased cirrculating antimullerian hormone circulation	57697	FANCM	OMIM:618096
HP:0031103	Decreased cirrculating antimullerian hormone circulation	57647	DHX37	OMIM:273250
HP:0031103	Decreased cirrculating antimullerian hormone circulation	7516	XRCC2	OMIM:619146
HP:0031103	Decreased cirrculating antimullerian hormone circulation	317761	C14orf39	OMIM:619203
HP:0031103	Decreased cirrculating antimullerian hormone circulation	23514	SPIDR	OMIM:619665
HP:0031103	Decreased cirrculating antimullerian hormone circulation	269	AMHR2	OMIM:261550
HP:0031103	Decreased cirrculating antimullerian hormone circulation	268	AMH	OMIM:261550
HP:0031103	Decreased cirrculating antimullerian hormone circulation	2100	ESR2	OMIM:618187
HP:0031104	Insulin receptor antibody positivity	50943	FOXP3	ORPHA:37042
HP:0031104	Insulin receptor antibody positivity	83737	ITCH	ORPHA:228426
HP:0031105	Abnormal uterus morphology	2271	FH	OMIM:150800
HP:0031105	Abnormal uterus morphology	2271	FH	ORPHA:523
HP:0031105	Abnormal uterus morphology	79577	CDC73	ORPHA:143
HP:0031105	Abnormal uterus morphology	79577	CDC73	ORPHA:99880
HP:0031105	Abnormal uterus morphology	2261	FGFR3	OMIM:616482
HP:0031105	Abnormal uterus morphology	4437	MSH3	ORPHA:480536
HP:0031105	Abnormal uterus morphology	4437	MSH3	OMIM:617100
HP:0031105	Abnormal uterus morphology	6299	SALL1	OMIM:107480
HP:0031105	Abnormal uterus morphology	219844	HYLS1	OMIM:236680
HP:0031105	Abnormal uterus morphology	51339	DACT1	OMIM:617466
HP:0031105	Abnormal uterus morphology	26227	PHGDH	OMIM:256520
HP:0031105	Abnormal uterus morphology	1277	COL1A1	ORPHA:287
HP:0031105	Abnormal uterus morphology	1289	COL5A1	ORPHA:287
HP:0031105	Abnormal uterus morphology	1290	COL5A2	ORPHA:287
HP:0031105	Abnormal uterus morphology	4088	SMAD3	ORPHA:284984
HP:0031105	Abnormal uterus morphology	4088	SMAD3	OMIM:613795
HP:0031105	Abnormal uterus morphology	6197	RPS6KA3	OMIM:303600
HP:0031105	Abnormal uterus morphology	2006	ELN	OMIM:123700
HP:0031105	Abnormal uterus morphology	2294	FOXF1	OMIM:265380
HP:0031105	Abnormal uterus morphology	341640	FREM2	ORPHA:2052
HP:0031105	Abnormal uterus morphology	80144	FRAS1	ORPHA:2052
HP:0031105	Abnormal uterus morphology	80144	FRAS1	OMIM:219000
HP:0031105	Abnormal uterus morphology	23426	GRIP1	ORPHA:2052
HP:0031105	Abnormal uterus morphology	10262	SF3B4	OMIM:154400
HP:0031105	Abnormal uterus morphology	6928	HNF1B	OMIM:137920
HP:0031105	Abnormal uterus morphology	6928	HNF1B	ORPHA:93111
HP:0031105	Abnormal uterus morphology	92002	CCNQ	OMIM:300707
HP:0031105	Abnormal uterus morphology	92002	CCNQ	ORPHA:140952
HP:0031105	Abnormal uterus morphology	23556	PIGN	ORPHA:2059
HP:0031105	Abnormal uterus morphology	3110	MNX1	OMIM:176450
HP:0031105	Abnormal uterus morphology	672	BRCA1	ORPHA:84
HP:0031105	Abnormal uterus morphology	10459	MAD2L2	ORPHA:84
HP:0031105	Abnormal uterus morphology	7516	XRCC2	ORPHA:84
HP:0031105	Abnormal uterus morphology	29089	UBE2T	ORPHA:84
HP:0031105	Abnormal uterus morphology	675	BRCA2	ORPHA:84
HP:0031105	Abnormal uterus morphology	55120	FANCL	ORPHA:84
HP:0031105	Abnormal uterus morphology	2177	FANCD2	ORPHA:84
HP:0031105	Abnormal uterus morphology	2175	FANCA	ORPHA:84
HP:0031105	Abnormal uterus morphology	2187	FANCB	ORPHA:84
HP:0031105	Abnormal uterus morphology	2176	FANCC	ORPHA:84
HP:0031105	Abnormal uterus morphology	2178	FANCE	ORPHA:84
HP:0031105	Abnormal uterus morphology	2188	FANCF	ORPHA:84
HP:0031105	Abnormal uterus morphology	2189	FANCG	ORPHA:84
HP:0031105	Abnormal uterus morphology	5888	RAD51	ORPHA:84
HP:0031105	Abnormal uterus morphology	5889	RAD51C	ORPHA:84
HP:0031105	Abnormal uterus morphology	55159	RFWD3	ORPHA:84
HP:0031105	Abnormal uterus morphology	83990	BRIP1	ORPHA:84
HP:0031105	Abnormal uterus morphology	57697	FANCM	ORPHA:84
HP:0031105	Abnormal uterus morphology	79728	PALB2	ORPHA:84
HP:0031105	Abnormal uterus morphology	84464	SLX4	ORPHA:84
HP:0031105	Abnormal uterus morphology	2072	ERCC4	ORPHA:84
HP:0031105	Abnormal uterus morphology	55215	FANCI	ORPHA:84
HP:0031105	Abnormal uterus morphology	6736	SRY	OMIM:400045
HP:0031105	Abnormal uterus morphology	64220	STRA6	OMIM:601186
HP:0031105	Abnormal uterus morphology	157570	ESCO2	OMIM:268300
HP:0031105	Abnormal uterus morphology	4036	LRP2	OMIM:222448
HP:0031105	Abnormal uterus morphology	4036	LRP2	ORPHA:2143
HP:0031105	Abnormal uterus morphology	1717	DHCR7	OMIM:270400
HP:0031105	Abnormal uterus morphology	79796	ALG9	ORPHA:79328
HP:0031105	Abnormal uterus morphology	79796	ALG9	OMIM:263210
HP:0031105	Abnormal uterus morphology	7148	TNXB	OMIM:606408
HP:0031105	Abnormal uterus morphology	6926	TBX3	OMIM:181450
HP:0031105	Abnormal uterus morphology	8516	ITGA8	OMIM:191830
HP:0031105	Abnormal uterus morphology	54101	RIPK4	OMIM:263650
HP:0031105	Abnormal uterus morphology	4281	MID1	ORPHA:2745
HP:0031105	Abnormal uterus morphology	23395	LARS2	OMIM:615300
HP:0031105	Abnormal uterus morphology	23384	SPECC1L	OMIM:145420
HP:0031105	Abnormal uterus morphology	5915	RARB	OMIM:615524
HP:0031105	Abnormal uterus morphology	2263	FGFR2	ORPHA:2363
HP:0031105	Abnormal uterus morphology	2255	FGF10	ORPHA:2363
HP:0031105	Abnormal uterus morphology	26040	SETBP1	OMIM:269150
HP:0031105	Abnormal uterus morphology	6714	SRC	OMIM:114500
HP:0031105	Abnormal uterus morphology	201163	FLCN	OMIM:114500
HP:0031105	Abnormal uterus morphology	10395	DLC1	OMIM:114500
HP:0031105	Abnormal uterus morphology	11200	CHEK2	OMIM:114500
HP:0031105	Abnormal uterus morphology	8313	AXIN2	OMIM:114500
HP:0031105	Abnormal uterus morphology	5290	PIK3CA	OMIM:114500
HP:0031105	Abnormal uterus morphology	2033	EP300	OMIM:114500
HP:0031105	Abnormal uterus morphology	5782	PTPN12	OMIM:114500
HP:0031105	Abnormal uterus morphology	5320	PLA2G2A	OMIM:114500
HP:0031105	Abnormal uterus morphology	6790	AURKA	OMIM:114500
HP:0031105	Abnormal uterus morphology	1630	DCC	OMIM:114500
HP:0031105	Abnormal uterus morphology	27030	MLH3	OMIM:114500
HP:0031105	Abnormal uterus morphology	581	BAX	OMIM:114500
HP:0031105	Abnormal uterus morphology	25788	RAD54B	OMIM:114500
HP:0031105	Abnormal uterus morphology	595	CCND1	OMIM:114500
HP:0031105	Abnormal uterus morphology	699	BUB1	OMIM:114500
HP:0031105	Abnormal uterus morphology	701	BUB1B	OMIM:114500
HP:0031105	Abnormal uterus morphology	7097	TLR2	OMIM:114500
HP:0031105	Abnormal uterus morphology	4893	NRAS	OMIM:114500
HP:0031105	Abnormal uterus morphology	324	APC	OMIM:114500
HP:0031105	Abnormal uterus morphology	1499	CTNNB1	OMIM:114500
HP:0031105	Abnormal uterus morphology	7157	TP53	OMIM:114500
HP:0031105	Abnormal uterus morphology	4163	MCC	OMIM:114500
HP:0031105	Abnormal uterus morphology	207	AKT1	OMIM:114500
HP:0031105	Abnormal uterus morphology	5157	PDGFRL	OMIM:114500
HP:0031105	Abnormal uterus morphology	5795	PTPRJ	OMIM:114500
HP:0031105	Abnormal uterus morphology	673	BRAF	OMIM:114500
HP:0031105	Abnormal uterus morphology	2535	FZD2	OMIM:164745
HP:0031105	Abnormal uterus morphology	8312	AXIN1	OMIM:607864
HP:0031105	Abnormal uterus morphology	55112	DYNC2I1	ORPHA:93271
HP:0031105	Abnormal uterus morphology	57560	IFT80	ORPHA:93271
HP:0031105	Abnormal uterus morphology	57539	WDR35	ORPHA:93271
HP:0031105	Abnormal uterus morphology	79659	DYNC2H1	ORPHA:93271
HP:0031105	Abnormal uterus morphology	89891	DYNC2I2	ORPHA:93271
HP:0031105	Abnormal uterus morphology	2625	GATA3	ORPHA:2237
HP:0031105	Abnormal uterus morphology	2625	GATA3	OMIM:146255
HP:0031105	Abnormal uterus morphology	4659	PPP1R12A	OMIM:618820
HP:0031105	Abnormal uterus morphology	27152	INTU	OMIM:617925
HP:0031105	Abnormal uterus morphology	3209	HOXA13	OMIM:140000
HP:0031105	Abnormal uterus morphology	7490	WT1	OMIM:194080
HP:0031105	Abnormal uterus morphology	64218	SEMA4A	ORPHA:440437
HP:0031105	Abnormal uterus morphology	657	BMPR1A	ORPHA:440437
HP:0031105	Abnormal uterus morphology	6224	RPS20	ORPHA:440437
HP:0031105	Abnormal uterus morphology	4665	NAB2	ORPHA:2126
HP:0031105	Abnormal uterus morphology	6778	STAT6	ORPHA:2126
HP:0031105	Abnormal uterus morphology	6794	STK11	OMIM:175200
HP:0031105	Abnormal uterus morphology	5728	PTEN	ORPHA:109
HP:0031105	Abnormal uterus morphology	2313	FLI1	ORPHA:370348
HP:0031105	Abnormal uterus morphology	1288	COL4A6	ORPHA:1018
HP:0031105	Abnormal uterus morphology	1287	COL4A5	ORPHA:1018
HP:0031105	Abnormal uterus morphology	4292	MLH1	ORPHA:587
HP:0031105	Abnormal uterus morphology	2956	MSH6	ORPHA:587
HP:0031105	Abnormal uterus morphology	2956	MSH6	OMIM:614350
HP:0031105	Abnormal uterus morphology	2956	MSH6	OMIM:608089
HP:0031105	Abnormal uterus morphology	4436	MSH2	ORPHA:587
HP:0031105	Abnormal uterus morphology	10483	SEC23B	ORPHA:201
HP:0031105	Abnormal uterus morphology	6390	SDHB	ORPHA:201
HP:0031105	Abnormal uterus morphology	6392	SDHD	ORPHA:201
HP:0031105	Abnormal uterus morphology	6391	SDHC	ORPHA:201
HP:0031105	Abnormal uterus morphology	205717	USF3	ORPHA:201
HP:0031105	Abnormal uterus morphology	100144748	KLLN	ORPHA:201
HP:0031105	Abnormal uterus morphology	388662	SLC6A17	ORPHA:457212
HP:0031105	Abnormal uterus morphology	5424	POLD1	OMIM:612591
HP:0031105	Abnormal uterus morphology	5424	POLD1	ORPHA:447877
HP:0031105	Abnormal uterus morphology	26585	GREM1	ORPHA:157794
HP:0031105	Abnormal uterus morphology	4913	NTHL1	ORPHA:454840
HP:0031105	Abnormal uterus morphology	4913	NTHL1	OMIM:616415
HP:0031105	Abnormal uterus morphology	4072	EPCAM	OMIM:613244
HP:0031105	Abnormal uterus morphology	5395	PMS2	OMIM:614337
HP:0031105	Abnormal uterus morphology	5426	POLE	ORPHA:447877
HP:0031105	Abnormal uterus morphology	999	CDH1	OMIM:608089
HP:0031105	Abnormal uterus morphology	79228	THOC6	ORPHA:363444
HP:0031105	Abnormal uterus morphology	79228	THOC6	OMIM:613680
HP:0031105	Abnormal uterus morphology	2783	GNB2	OMIM:619503
HP:0031105	Abnormal uterus morphology	1281	COL3A1	OMIM:130050
HP:0031105	Abnormal uterus morphology	1281	COL3A1	ORPHA:286
HP:0031105	Abnormal uterus morphology	7046	TGFBR1	ORPHA:60030
HP:0031105	Abnormal uterus morphology	10526	IPO8	ORPHA:60030
HP:0031105	Abnormal uterus morphology	7048	TGFBR2	ORPHA:60030
HP:0031105	Abnormal uterus morphology	4693	NDP	ORPHA:649
HP:0031107	Decreased fibular diameter	202018	TAPT1	OMIM:616897
HP:0031107	Decreased fibular diameter	60676	PAPPA2	OMIM:619489
HP:0031107	Decreased fibular diameter	10651	MTX2	OMIM:619127
HP:0031108	Triceps weakness	81545	FBXO38	OMIM:615575
HP:0031108	Triceps weakness	8291	DYSF	ORPHA:45448
HP:0031108	Triceps weakness	122622	ADSS1	ORPHA:482601
HP:0031108	Triceps weakness	9927	MFN2	ORPHA:99947
HP:0031108	Triceps weakness	10585	POMT1	ORPHA:86812
HP:0031108	Triceps weakness	6329	SCN4A	ORPHA:98913
HP:0031108	Triceps weakness	1134	CHRNA1	ORPHA:98913
HP:0031108	Triceps weakness	4038	LRP4	ORPHA:98913
HP:0031108	Triceps weakness	1305	COL13A1	ORPHA:98913
HP:0031108	Triceps weakness	1140	CHRNB1	ORPHA:98913
HP:0031108	Triceps weakness	1144	CHRND	ORPHA:98913
HP:0031108	Triceps weakness	1145	CHRNE	ORPHA:98913
HP:0031108	Triceps weakness	4593	MUSK	ORPHA:98913
HP:0031108	Triceps weakness	5913	RAPSN	ORPHA:98913
HP:0031108	Triceps weakness	375790	AGRN	ORPHA:98913
HP:0031108	Triceps weakness	221264	AK9	ORPHA:98913
HP:0031108	Triceps weakness	285489	DOK7	ORPHA:98913
HP:0031108	Triceps weakness	4625	MYH7	ORPHA:437572
HP:0031108	Triceps weakness	182	JAG1	OMIM:619574
HP:0031109	Agalactia	5618	PRLR	OMIM:615555
HP:0005259	Abnormal facility in opposing the shoulders	860	RUNX2	OMIM:119600
HP:0031123	Recurrent gastroenteritis	641	BLM	ORPHA:125
HP:0031123	Recurrent gastroenteritis	4125	MAN2B1	ORPHA:309282
HP:0031123	Recurrent gastroenteritis	4125	MAN2B1	ORPHA:309288
HP:0031123	Recurrent gastroenteritis	65082	VPS33A	ORPHA:505248
HP:0031123	Recurrent gastroenteritis	64421	DCLRE1C	ORPHA:275
HP:0031123	Recurrent gastroenteritis	113179	ADAT3	ORPHA:363528
HP:0031123	Recurrent gastroenteritis	10379	IRF9	OMIM:618648
HP:0031123	Recurrent gastroenteritis	50943	FOXP3	ORPHA:37042
HP:0031123	Recurrent gastroenteritis	916	CD3E	OMIM:615615
HP:0031123	Recurrent gastroenteritis	917	CD3G	OMIM:615607
HP:0031123	Recurrent gastroenteritis	3431	SP110	ORPHA:79124
HP:0031123	Recurrent gastroenteritis	55343	SLC35C1	ORPHA:99843
HP:0031123	Recurrent gastroenteritis	6868	ADAM17	ORPHA:294023
HP:0031123	Recurrent gastroenteritis	1956	EGFR	ORPHA:294023
HP:0031126	Impaired clot retraction	3674	ITGA2B	OMIM:273800
HP:0031126	Impaired clot retraction	3690	ITGB3	OMIM:619267
HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	2811	GP1BA	OMIM:153670
HP:0005258	Pectoral muscle hypoplasia/aplasia	257	ALX3	OMIM:136760
HP:0005258	Pectoral muscle hypoplasia/aplasia	8092	ALX1	ORPHA:306542
HP:0005258	Pectoral muscle hypoplasia/aplasia	57167	SALL4	OMIM:607323
HP:0005258	Pectoral muscle hypoplasia/aplasia	6910	TBX5	OMIM:142900
HP:0005258	Pectoral muscle hypoplasia/aplasia	5980	REV3L	ORPHA:570
HP:0005258	Pectoral muscle hypoplasia/aplasia	23129	PLXND1	ORPHA:570
HP:0005258	Pectoral muscle hypoplasia/aplasia	6926	TBX3	ORPHA:3138
HP:0005258	Pectoral muscle hypoplasia/aplasia	389827	MYMK	ORPHA:1358
HP:0005258	Pectoral muscle hypoplasia/aplasia	101929726	MYMX	ORPHA:1358
HP:0005257	Thoracic hypoplasia	55906	ZC4H2	OMIM:301041
HP:0005257	Thoracic hypoplasia	55906	ZC4H2	OMIM:314580
HP:0005257	Thoracic hypoplasia	4750	NEK1	OMIM:263520
HP:0005257	Thoracic hypoplasia	55503	TRPV6	OMIM:618188
HP:0005257	Thoracic hypoplasia	55503	TRPV6	ORPHA:417
HP:0005257	Thoracic hypoplasia	2879	GPX4	ORPHA:93317
HP:0005257	Thoracic hypoplasia	2879	GPX4	OMIM:250220
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	OMIM:615633
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	ORPHA:474
HP:0005257	Thoracic hypoplasia	23556	PIGN	ORPHA:2059
HP:0005257	Thoracic hypoplasia	23556	PIGN	ORPHA:280633
HP:0005257	Thoracic hypoplasia	57539	WDR35	OMIM:613610
HP:0005257	Thoracic hypoplasia	57539	WDR35	ORPHA:93271
HP:0005257	Thoracic hypoplasia	57539	WDR35	ORPHA:1515
HP:0005257	Thoracic hypoplasia	57539	WDR35	OMIM:614091
HP:0005257	Thoracic hypoplasia	55733	HHAT	OMIM:600092
HP:0005257	Thoracic hypoplasia	55733	HHAT	ORPHA:1422
HP:0005257	Thoracic hypoplasia	3636	INPPL1	ORPHA:3144
HP:0005257	Thoracic hypoplasia	3636	INPPL1	OMIM:258480
HP:0005257	Thoracic hypoplasia	3636	INPPL1	ORPHA:2746
HP:0005257	Thoracic hypoplasia	538	ATP7A	OMIM:304150
HP:0005257	Thoracic hypoplasia	538	ATP7A	ORPHA:565
HP:0005257	Thoracic hypoplasia	538	ATP7A	ORPHA:198
HP:0005257	Thoracic hypoplasia	5745	PTH1R	OMIM:215045
HP:0005257	Thoracic hypoplasia	5745	PTH1R	ORPHA:50945
HP:0005257	Thoracic hypoplasia	10312	TCIRG1	ORPHA:667
HP:0005257	Thoracic hypoplasia	1186	CLCN7	ORPHA:667
HP:0005257	Thoracic hypoplasia	29887	SNX10	ORPHA:667
HP:0005257	Thoracic hypoplasia	8600	TNFSF11	ORPHA:667
HP:0005257	Thoracic hypoplasia	5447	POR	ORPHA:95699
HP:0005257	Thoracic hypoplasia	5447	POR	OMIM:207410
HP:0005257	Thoracic hypoplasia	59341	TRPV4	OMIM:156530
HP:0005257	Thoracic hypoplasia	59341	TRPV4	ORPHA:2635
HP:0005257	Thoracic hypoplasia	10479	SLC9A6	OMIM:300243
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	ORPHA:474
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	OMIM:615503
HP:0005257	Thoracic hypoplasia	57560	IFT80	ORPHA:93271
HP:0005257	Thoracic hypoplasia	57560	IFT80	ORPHA:474
HP:0005257	Thoracic hypoplasia	57560	IFT80	OMIM:611263
HP:0005257	Thoracic hypoplasia	58	ACTA1	ORPHA:171436
HP:0005257	Thoracic hypoplasia	58	ACTA1	ORPHA:171439
HP:0005257	Thoracic hypoplasia	7169	TPM2	ORPHA:171436
HP:0005257	Thoracic hypoplasia	7169	TPM2	ORPHA:171439
HP:0005257	Thoracic hypoplasia	4703	NEB	ORPHA:171436
HP:0005257	Thoracic hypoplasia	4703	NEB	ORPHA:171439
HP:0005257	Thoracic hypoplasia	10324	KLHL41	ORPHA:171436
HP:0005257	Thoracic hypoplasia	10324	KLHL41	OMIM:615731
HP:0005257	Thoracic hypoplasia	10324	KLHL41	ORPHA:171439
HP:0005257	Thoracic hypoplasia	56203	LMOD3	ORPHA:171436
HP:0005257	Thoracic hypoplasia	1073	CFL2	ORPHA:171436
HP:0005257	Thoracic hypoplasia	91754	NEK9	OMIM:617022
HP:0005257	Thoracic hypoplasia	51119	SBDS	OMIM:260400
HP:0005257	Thoracic hypoplasia	134218	DNAJC21	OMIM:260400
HP:0005257	Thoracic hypoplasia	6729	SRP54	OMIM:260400
HP:0005257	Thoracic hypoplasia	375790	AGRN	OMIM:615120
HP:0005257	Thoracic hypoplasia	8942	KYNU	OMIM:617661
HP:0005257	Thoracic hypoplasia	2263	FGFR2	OMIM:207410
HP:0005257	Thoracic hypoplasia	72	ACTG2	ORPHA:2604
HP:0005257	Thoracic hypoplasia	22858	CILK1	OMIM:612651
HP:0005257	Thoracic hypoplasia	846	CASR	ORPHA:417
HP:0005257	Thoracic hypoplasia	846	CASR	OMIM:239200
HP:0005257	Thoracic hypoplasia	3764	KCNJ8	ORPHA:1517
HP:0005257	Thoracic hypoplasia	10060	ABCC9	ORPHA:1517
HP:0005257	Thoracic hypoplasia	10060	ABCC9	OMIM:239850
HP:0005257	Thoracic hypoplasia	51098	IFT52	ORPHA:1515
HP:0005257	Thoracic hypoplasia	51098	IFT52	OMIM:617102
HP:0005257	Thoracic hypoplasia	55764	IFT122	ORPHA:1515
HP:0005257	Thoracic hypoplasia	55764	IFT122	OMIM:218330
HP:0005257	Thoracic hypoplasia	57728	WDR19	ORPHA:1515
HP:0005257	Thoracic hypoplasia	57728	WDR19	ORPHA:474
HP:0005257	Thoracic hypoplasia	57728	WDR19	OMIM:614378
HP:0005257	Thoracic hypoplasia	57728	WDR19	OMIM:614376
HP:0005257	Thoracic hypoplasia	79158	GNPTAB	ORPHA:576
HP:0005257	Thoracic hypoplasia	1741	DLG3	OMIM:300850
HP:0005257	Thoracic hypoplasia	6023	RMRP	ORPHA:175
HP:0005257	Thoracic hypoplasia	6023	RMRP	OMIM:250250
HP:0005257	Thoracic hypoplasia	10484	SEC23A	ORPHA:50814
HP:0005257	Thoracic hypoplasia	10484	SEC23A	OMIM:607812
HP:0005257	Thoracic hypoplasia	3549	IHH	ORPHA:63446
HP:0005257	Thoracic hypoplasia	3549	IHH	OMIM:607778
HP:0005257	Thoracic hypoplasia	23184	MESD	OMIM:618644
HP:0005257	Thoracic hypoplasia	90993	CREB3L1	OMIM:616229
HP:0005257	Thoracic hypoplasia	64131	XYLT1	OMIM:615777
HP:0005257	Thoracic hypoplasia	22827	PUF60	ORPHA:508488
HP:0005257	Thoracic hypoplasia	5566	PRKACA	ORPHA:289
HP:0005257	Thoracic hypoplasia	5567	PRKACB	ORPHA:289
HP:0005257	Thoracic hypoplasia	5567	PRKACB	OMIM:619143
HP:0005257	Thoracic hypoplasia	2735	GLI1	ORPHA:289
HP:0005257	Thoracic hypoplasia	2121	EVC	ORPHA:289
HP:0005257	Thoracic hypoplasia	2121	EVC	OMIM:225500
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	ORPHA:289
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	ORPHA:474
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	OMIM:617088
HP:0005257	Thoracic hypoplasia	132884	EVC2	ORPHA:289
HP:0005257	Thoracic hypoplasia	132884	EVC2	OMIM:225500
HP:0005257	Thoracic hypoplasia	7703	PCGF2	OMIM:618371
HP:0005257	Thoracic hypoplasia	860	RUNX2	OMIM:119600
HP:0005257	Thoracic hypoplasia	860	RUNX2	ORPHA:1452
HP:0005257	Thoracic hypoplasia	79867	TCTN2	OMIM:613885
HP:0005257	Thoracic hypoplasia	79633	FAT4	OMIM:615546
HP:0005257	Thoracic hypoplasia	79633	FAT4	ORPHA:2136
HP:0005257	Thoracic hypoplasia	5116	PCNT	OMIM:210720
HP:0005257	Thoracic hypoplasia	8642	DCHS1	OMIM:601390
HP:0005257	Thoracic hypoplasia	2200	FBN1	OMIM:616914
HP:0005257	Thoracic hypoplasia	2200	FBN1	ORPHA:2462
HP:0005257	Thoracic hypoplasia	23594	ORC6	OMIM:613803
HP:0005257	Thoracic hypoplasia	29980	DONSON	OMIM:251230
HP:0005257	Thoracic hypoplasia	2316	FLNA	ORPHA:90652
HP:0005257	Thoracic hypoplasia	2316	FLNA	ORPHA:2484
HP:0005257	Thoracic hypoplasia	2316	FLNA	OMIM:304120
HP:0005257	Thoracic hypoplasia	2316	FLNA	OMIM:309350
HP:0005257	Thoracic hypoplasia	153241	CEP120	ORPHA:474
HP:0005257	Thoracic hypoplasia	153241	CEP120	OMIM:616300
HP:0005257	Thoracic hypoplasia	79809	TTC21B	ORPHA:474
HP:0005257	Thoracic hypoplasia	79809	TTC21B	OMIM:613819
HP:0005257	Thoracic hypoplasia	9321	TRIP11	ORPHA:166272
HP:0005257	Thoracic hypoplasia	9321	TRIP11	OMIM:184260
HP:0005257	Thoracic hypoplasia	9321	TRIP11	OMIM:200600
HP:0005257	Thoracic hypoplasia	9321	TRIP11	ORPHA:93299
HP:0005257	Thoracic hypoplasia	11285	B4GALT7	OMIM:130070
HP:0005257	Thoracic hypoplasia	65109	UPF3B	OMIM:300676
HP:0005257	Thoracic hypoplasia	57003	CCDC47	OMIM:618268
HP:0005257	Thoracic hypoplasia	8260	NAA10	OMIM:309800
HP:0005257	Thoracic hypoplasia	54880	BCOR	OMIM:309800
HP:0005257	Thoracic hypoplasia	9508	ADAMTS3	ORPHA:2136
HP:0005257	Thoracic hypoplasia	147372	CCBE1	ORPHA:2136
HP:0005257	Thoracic hypoplasia	54499	TMCO1	OMIM:213980
HP:0005257	Thoracic hypoplasia	54499	TMCO1	ORPHA:1394
HP:0005257	Thoracic hypoplasia	11128	POLR3A	OMIM:264090
HP:0005257	Thoracic hypoplasia	3675	ITGA3	OMIM:614748
HP:0005257	Thoracic hypoplasia	26137	ZBTB20	OMIM:259050
HP:0005257	Thoracic hypoplasia	26137	ZBTB20	ORPHA:3042
HP:0005257	Thoracic hypoplasia	2571	GAD1	OMIM:619124
HP:0005257	Thoracic hypoplasia	2542	SLC37A4	OMIM:619525
HP:0005257	Thoracic hypoplasia	7291	TWIST1	OMIM:617746
HP:0005257	Thoracic hypoplasia	55717	WDR11	OMIM:620237
HP:0005257	Thoracic hypoplasia	124583	CANT1	OMIM:251450
HP:0005257	Thoracic hypoplasia	4000	LMNA	ORPHA:157973
HP:0005257	Thoracic hypoplasia	5331	PLCB3	OMIM:618961
HP:0005257	Thoracic hypoplasia	9968	MED12	OMIM:300895
HP:0005257	Thoracic hypoplasia	10491	CRTAP	OMIM:610682
HP:0005257	Thoracic hypoplasia	7994	KAT6A	OMIM:616268
HP:0005257	Thoracic hypoplasia	84665	MYPN	ORPHA:171439
HP:0005257	Thoracic hypoplasia	390594	KBTBD13	ORPHA:171439
HP:0005257	Thoracic hypoplasia	7170	TPM3	ORPHA:171439
HP:0005257	Thoracic hypoplasia	6223	RPS19	OMIM:105650
HP:0005257	Thoracic hypoplasia	1513	CTSK	ORPHA:763
HP:0005257	Thoracic hypoplasia	9469	CHST3	OMIM:245600
HP:0005257	Thoracic hypoplasia	26229	B3GAT3	OMIM:245600
HP:0005257	Thoracic hypoplasia	51025	PAM16	OMIM:613320
HP:0005257	Thoracic hypoplasia	25871	NEPRO	OMIM:618853
HP:0005257	Thoracic hypoplasia	27152	INTU	OMIM:617925
HP:0005257	Thoracic hypoplasia	4654	MYOD1	OMIM:618975
HP:0005257	Thoracic hypoplasia	6497	SKI	ORPHA:2462
HP:0005257	Thoracic hypoplasia	255758	DYNLT2B	OMIM:617405
HP:0005257	Thoracic hypoplasia	51360	MBTPS2	OMIM:308205
HP:0005257	Thoracic hypoplasia	4921	DDR2	OMIM:271665
HP:0005257	Thoracic hypoplasia	2261	FGFR3	OMIM:187600
HP:0005257	Thoracic hypoplasia	2261	FGFR3	OMIM:100800
HP:0005257	Thoracic hypoplasia	2261	FGFR3	ORPHA:15
HP:0005257	Thoracic hypoplasia	79659	DYNC2H1	OMIM:613091
HP:0005257	Thoracic hypoplasia	3572	IL6ST	OMIM:619751
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:254534
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:254528
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:96334
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:254534
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:254528
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:96334
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:254534
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:254528
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:96334
HP:0005257	Thoracic hypoplasia	6628	SNRPB	OMIM:117650
HP:0005257	Thoracic hypoplasia	1280	COL2A1	OMIM:151210
HP:0005257	Thoracic hypoplasia	9851	KIAA0753	OMIM:619479
HP:0005257	Thoracic hypoplasia	4593	MUSK	OMIM:208150
HP:0005257	Thoracic hypoplasia	28981	IFT81	OMIM:617895
HP:0005257	Thoracic hypoplasia	26160	IFT172	OMIM:615630
HP:0005257	Thoracic hypoplasia	755	CFAP410	OMIM:602271
HP:0005257	Thoracic hypoplasia	65992	DDRGK1	ORPHA:93352
HP:0005257	Thoracic hypoplasia	2629	GBA1	OMIM:608013
HP:0005257	Thoracic hypoplasia	4148	MATN3	OMIM:608728
HP:0005257	Thoracic hypoplasia	4148	MATN3	ORPHA:156728
HP:0005257	Thoracic hypoplasia	2317	FLNB	ORPHA:56305
HP:0005257	Thoracic hypoplasia	2317	FLNB	ORPHA:1190
HP:0005257	Thoracic hypoplasia	2317	FLNB	OMIM:108720
HP:0005257	Thoracic hypoplasia	1836	SLC26A2	ORPHA:56304
HP:0005257	Thoracic hypoplasia	1836	SLC26A2	OMIM:256050
HP:0005257	Thoracic hypoplasia	79848	CSPP1	ORPHA:397715
HP:0005257	Thoracic hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0005257	Thoracic hypoplasia	112752	IFT43	OMIM:617866
HP:0005257	Thoracic hypoplasia	202018	TAPT1	OMIM:616897
HP:0005257	Thoracic hypoplasia	6662	SOX9	OMIM:114290
HP:0005257	Thoracic hypoplasia	23169	SLC35D1	OMIM:269250
HP:0005257	Thoracic hypoplasia	56975	FAM20C	OMIM:259775
HP:0005257	Thoracic hypoplasia	3930	LBR	OMIM:215140
HP:0005257	Thoracic hypoplasia	3930	LBR	OMIM:618019
HP:0005257	Thoracic hypoplasia	3339	HSPG2	OMIM:224410
HP:0005257	Thoracic hypoplasia	10020	GNE	OMIM:269921
HP:0005257	Thoracic hypoplasia	84068	SLC10A7	OMIM:618363
HP:0005257	Thoracic hypoplasia	5286	PIK3C2A	OMIM:618440
HP:0005257	Thoracic hypoplasia	1277	COL1A1	OMIM:166210
HP:0005257	Thoracic hypoplasia	1278	COL1A2	OMIM:166210
HP:0005257	Thoracic hypoplasia	1302	COL11A2	OMIM:614524
HP:0005257	Thoracic hypoplasia	3295	HSD17B4	OMIM:261515
HP:0005257	Thoracic hypoplasia	9742	IFT140	OMIM:266920
HP:0005257	Thoracic hypoplasia	1301	COL11A1	OMIM:228520
HP:0005257	Thoracic hypoplasia	5277	PIGA	OMIM:300868
HP:0005257	Thoracic hypoplasia	2475	MTOR	ORPHA:457485
HP:0005257	Thoracic hypoplasia	2475	MTOR	OMIM:616638
HP:0005257	Thoracic hypoplasia	871	SERPINH1	OMIM:613848
HP:0005257	Thoracic hypoplasia	168667	BMPER	OMIM:608022
HP:0005255	Absence of pectoralis minor muscle	4010	LMX1B	OMIM:161200
HP:0005254	Unilateral chest hypoplasia	51360	MBTPS2	OMIM:308205
HP:0005253	Increased anterioposterior diameter of thorax	4000	LMNA	ORPHA:1662
HP:0005253	Increased anterioposterior diameter of thorax	10269	ZMPSTE24	ORPHA:1662
HP:0005253	Increased anterioposterior diameter of thorax	10269	ZMPSTE24	OMIM:275210
HP:0000455	Broad nasal tip	3480	IGF1R	ORPHA:73273
HP:0000455	Broad nasal tip	9131	AIFM1	OMIM:300232
HP:0000455	Broad nasal tip	57459	GATAD2B	OMIM:615074
HP:0000455	Broad nasal tip	57459	GATAD2B	ORPHA:363686
HP:0000455	Broad nasal tip	1499	CTNNB1	OMIM:615075
HP:0000455	Broad nasal tip	1499	CTNNB1	ORPHA:404473
HP:0000455	Broad nasal tip	324	APC	ORPHA:261584
HP:0000455	Broad nasal tip	6909	TBX2	OMIM:618223
HP:0000455	Broad nasal tip	8367	H4C5	OMIM:619950
HP:0000455	Broad nasal tip	1859	DYRK1A	ORPHA:268261
HP:0000455	Broad nasal tip	23394	ADNP	OMIM:615873
HP:0000455	Broad nasal tip	8573	CASK	OMIM:300749
HP:0000455	Broad nasal tip	6885	MAP3K7	OMIM:617137
HP:0000455	Broad nasal tip	84282	RNF135	ORPHA:137634
HP:0000455	Broad nasal tip	11133	KPTN	OMIM:615637
HP:0000455	Broad nasal tip	6418	SET	OMIM:618106
HP:0000455	Broad nasal tip	7021	TFAP2B	OMIM:169100
HP:0000455	Broad nasal tip	10060	ABCC9	OMIM:619719
HP:0000455	Broad nasal tip	23126	POGZ	ORPHA:468678
HP:0000455	Broad nasal tip	23126	POGZ	OMIM:616364
HP:0000455	Broad nasal tip	3190	HNRNPK	ORPHA:453504
HP:0000455	Broad nasal tip	3190	HNRNPK	ORPHA:352665
HP:0000455	Broad nasal tip	5575	PRKAR1B	OMIM:619680
HP:0000455	Broad nasal tip	55869	HDAC8	OMIM:300882
HP:0000455	Broad nasal tip	55869	HDAC8	ORPHA:3459
HP:0000455	Broad nasal tip	5515	PPP2CA	OMIM:618354
HP:0000455	Broad nasal tip	57511	COG6	ORPHA:363523
HP:0000455	Broad nasal tip	9578	CDC42BPB	OMIM:619841
HP:0000455	Broad nasal tip	80816	ASXL3	OMIM:615485
HP:0000455	Broad nasal tip	2137	EXTL3	OMIM:617425
HP:0000455	Broad nasal tip	55784	MCTP2	ORPHA:1596
HP:0000455	Broad nasal tip	112939	NACC1	ORPHA:500545
HP:0000455	Broad nasal tip	112939	NACC1	OMIM:617393
HP:0000455	Broad nasal tip	5915	RARB	OMIM:615524
HP:0000455	Broad nasal tip	10847	SRCAP	ORPHA:2044
HP:0000455	Broad nasal tip	25782	RAB3GAP2	OMIM:212720
HP:0000455	Broad nasal tip	29072	SETD2	OMIM:620157
HP:0000455	Broad nasal tip	29072	SETD2	OMIM:620155
HP:0000455	Broad nasal tip	2720	GLB1	ORPHA:79255
HP:0000455	Broad nasal tip	4297	KMT2A	OMIM:605130
HP:0000455	Broad nasal tip	55650	PIGV	OMIM:239300
HP:0000455	Broad nasal tip	23221	RHOBTB2	OMIM:618004
HP:0000455	Broad nasal tip	57492	ARID1B	OMIM:135900
HP:0000455	Broad nasal tip	57492	ARID1B	ORPHA:1465
HP:0000455	Broad nasal tip	64324	NSD1	OMIM:117550
HP:0000455	Broad nasal tip	4052	LTBP1	OMIM:619451
HP:0000455	Broad nasal tip	54496	PRMT7	OMIM:617157
HP:0000455	Broad nasal tip	3756	KCNH1	OMIM:135500
HP:0000455	Broad nasal tip	7528	YY1	OMIM:617557
HP:0000455	Broad nasal tip	6597	SMARCA4	ORPHA:1465
HP:0000455	Broad nasal tip	6598	SMARCB1	ORPHA:1465
HP:0000455	Broad nasal tip	6659	SOX4	ORPHA:1465
HP:0000455	Broad nasal tip	8289	ARID1A	ORPHA:1465
HP:0000455	Broad nasal tip	5977	DPF2	ORPHA:1465
HP:0000455	Broad nasal tip	6601	SMARCC2	ORPHA:1465
HP:0000455	Broad nasal tip	6602	SMARCD1	ORPHA:1465
HP:0000455	Broad nasal tip	196528	ARID2	ORPHA:1465
HP:0000455	Broad nasal tip	196528	ARID2	OMIM:617808
HP:0000455	Broad nasal tip	6605	SMARCE1	ORPHA:1465
HP:0000455	Broad nasal tip	6664	SOX11	ORPHA:1465
HP:0000455	Broad nasal tip	23545	ATP6V0A2	ORPHA:2834
HP:0000455	Broad nasal tip	23545	ATP6V0A2	ORPHA:357074
HP:0000455	Broad nasal tip	64359	NXN	OMIM:618529
HP:0000455	Broad nasal tip	7994	KAT6A	ORPHA:457193
HP:0000455	Broad nasal tip	7994	KAT6A	OMIM:616268
HP:0000455	Broad nasal tip	27315	PGAP2	OMIM:614207
HP:0000455	Broad nasal tip	1009	CDH11	OMIM:619736
HP:0000455	Broad nasal tip	1009	CDH11	ORPHA:1299
HP:0000455	Broad nasal tip	114034	TOE1	OMIM:614969
HP:0000455	Broad nasal tip	23325	WASHC4	OMIM:615817
HP:0000455	Broad nasal tip	22827	PUF60	ORPHA:508488
HP:0000455	Broad nasal tip	22827	PUF60	OMIM:615583
HP:0000455	Broad nasal tip	7020	TFAP2A	OMIM:113620
HP:0000455	Broad nasal tip	7020	TFAP2A	ORPHA:1297
HP:0000455	Broad nasal tip	6872	TAF1	ORPHA:480907
HP:0000455	Broad nasal tip	6872	TAF1	OMIM:300966
HP:0000455	Broad nasal tip	7403	KDM6A	OMIM:300867
HP:0000455	Broad nasal tip	51305	KCNK9	ORPHA:166108
HP:0000455	Broad nasal tip	5813	PURA	ORPHA:438216
HP:0000455	Broad nasal tip	23314	SATB2	OMIM:612313
HP:0000455	Broad nasal tip	5573	PRKAR1A	OMIM:101800
HP:0000455	Broad nasal tip	3782	KCNN3	OMIM:618658
HP:0000455	Broad nasal tip	6638	SNRPN	ORPHA:177907
HP:0000455	Broad nasal tip	3425	IDUA	OMIM:607014
HP:0000455	Broad nasal tip	26040	SETBP1	ORPHA:798
HP:0000455	Broad nasal tip	9653	HS2ST1	OMIM:619194
HP:0000455	Broad nasal tip	64840	PORCN	OMIM:305600
HP:0000455	Broad nasal tip	253738	EBF3	OMIM:617330
HP:0000455	Broad nasal tip	10664	CTCF	ORPHA:363611
HP:0000455	Broad nasal tip	8812	CCNK	OMIM:618147
HP:0000455	Broad nasal tip	56006	SMG9	OMIM:619995
HP:0000455	Broad nasal tip	65250	CPLANE1	OMIM:277170
HP:0000455	Broad nasal tip	65250	CPLANE1	ORPHA:2754
HP:0000455	Broad nasal tip	29081	METTL5	OMIM:618665
HP:0000455	Broad nasal tip	5792	PTPRF	OMIM:616001
HP:0000455	Broad nasal tip	8558	CDK10	OMIM:617694
HP:0000455	Broad nasal tip	92002	CCNQ	OMIM:300707
HP:0000455	Broad nasal tip	85440	DOCK7	ORPHA:411986
HP:0000455	Broad nasal tip	85440	DOCK7	OMIM:615859
HP:0000455	Broad nasal tip	9091	PIGQ	OMIM:618548
HP:0000455	Broad nasal tip	8364	H4C3	OMIM:619758
HP:0000455	Broad nasal tip	84720	PIGO	OMIM:614749
HP:0000455	Broad nasal tip	93210	PGAP3	OMIM:615716
HP:0000455	Broad nasal tip	5293	PIK3CD	ORPHA:221139
HP:0000455	Broad nasal tip	90417	KNSTRN	ORPHA:221139
HP:0000455	Broad nasal tip	415	ARSL	ORPHA:79345
HP:0000455	Broad nasal tip	526	ATP6V1B2	ORPHA:79500
HP:0000455	Broad nasal tip	57465	TBC1D24	ORPHA:79500
HP:0000455	Broad nasal tip	2132	EXT2	ORPHA:52022
HP:0000455	Broad nasal tip	60529	ALX4	ORPHA:52022
HP:0000455	Broad nasal tip	51317	PHF21A	ORPHA:52022
HP:0000455	Broad nasal tip	11198	SUPT16H	OMIM:619480
HP:0000455	Broad nasal tip	4036	LRP2	OMIM:222448
HP:0000455	Broad nasal tip	79718	TBL1XR1	OMIM:602342
HP:0000455	Broad nasal tip	26137	ZBTB20	OMIM:259050
HP:0000455	Broad nasal tip	4893	NRAS	OMIM:137550
HP:0000455	Broad nasal tip	3265	HRAS	OMIM:137550
HP:0000455	Broad nasal tip	54880	BCOR	OMIM:300166
HP:0000455	Broad nasal tip	285590	SH3PXD2B	OMIM:249420
HP:0000455	Broad nasal tip	7750	ZMYM2	OMIM:619522
HP:0000455	Broad nasal tip	8733	GPAA1	ORPHA:529665
HP:0000455	Broad nasal tip	27086	FOXP1	ORPHA:391372
HP:0000455	Broad nasal tip	27086	FOXP1	OMIM:613670
HP:0000455	Broad nasal tip	158326	FREM1	OMIM:248450
HP:0000455	Broad nasal tip	54870	QRICH1	OMIM:617982
HP:0000455	Broad nasal tip	6197	RPS6KA3	OMIM:300844
HP:0000455	Broad nasal tip	50485	SMARCAL1	ORPHA:1830
HP:0000455	Broad nasal tip	81887	LAS1L	ORPHA:3459
HP:0000455	Broad nasal tip	7291	TWIST1	OMIM:617746
HP:0000455	Broad nasal tip	51085	MLXIPL	OMIM:194050
HP:0000455	Broad nasal tip	2006	ELN	OMIM:194050
HP:0000455	Broad nasal tip	57688	ZSWIM6	OMIM:603671
HP:0000455	Broad nasal tip	57688	ZSWIM6	ORPHA:1827
HP:0000455	Broad nasal tip	9759	HDAC4	OMIM:600430
HP:0000455	Broad nasal tip	55252	ASXL2	OMIM:617190
HP:0000455	Broad nasal tip	523	ATP6V1A	ORPHA:357074
HP:0000455	Broad nasal tip	529	ATP6V1E1	ORPHA:357074
HP:0000455	Broad nasal tip	529	ATP6V1E1	OMIM:617402
HP:0000455	Broad nasal tip	7518	XRCC4	OMIM:616541
HP:0000455	Broad nasal tip	178	AGL	OMIM:232400
HP:0000455	Broad nasal tip	51780	KDM3B	OMIM:618846
HP:0000455	Broad nasal tip	2186	BPTF	OMIM:617755
HP:0000455	Broad nasal tip	23133	PHF8	ORPHA:85287
HP:0000455	Broad nasal tip	23133	PHF8	OMIM:300263
HP:0000455	Broad nasal tip	23219	FBXO28	OMIM:619777
HP:0000455	Broad nasal tip	170692	ADAMTS18	OMIM:615458
HP:0000455	Broad nasal tip	51322	WAC	ORPHA:466950
HP:0000455	Broad nasal tip	2317	FLNB	OMIM:272460
HP:0000455	Broad nasal tip	10210	TOPORS	ORPHA:2754
HP:0000455	Broad nasal tip	9851	KIAA0753	ORPHA:2754
HP:0000455	Broad nasal tip	26123	TCTN3	ORPHA:2754
HP:0000455	Broad nasal tip	5147	PDE6D	ORPHA:2754
HP:0000455	Broad nasal tip	51259	TMEM216	ORPHA:2754
HP:0000455	Broad nasal tip	8481	OFD1	ORPHA:2754
HP:0000455	Broad nasal tip	317662	FAM149B1	ORPHA:2754
HP:0000455	Broad nasal tip	374654	KIF7	ORPHA:2754
HP:0000455	Broad nasal tip	11011	TLK2	OMIM:618050
HP:0000455	Broad nasal tip	257	ALX3	OMIM:136760
HP:0000455	Broad nasal tip	55023	PHIP	ORPHA:589905
HP:0000455	Broad nasal tip	6261	RYR1	OMIM:619542
HP:0000455	Broad nasal tip	1968	EIF2S3	OMIM:300148
HP:0000455	Broad nasal tip	23404	EXOSC2	OMIM:617763
HP:0000455	Broad nasal tip	3832	KIF11	OMIM:152950
HP:0000455	Broad nasal tip	1806	DPYD	ORPHA:293948
HP:0000455	Broad nasal tip	22930	RAB3GAP1	OMIM:619420
HP:0000455	Broad nasal tip	10736	SIX2	ORPHA:488437
HP:0000455	Broad nasal tip	25886	POC1A	OMIM:614813
HP:0000455	Broad nasal tip	389827	MYMK	OMIM:254940
HP:0000455	Broad nasal tip	10075	HUWE1	OMIM:309590
HP:0005268	Miscarriage	4352	MPL	ORPHA:71493
HP:0005268	Miscarriage	7066	THPO	ORPHA:71493
HP:0005268	Miscarriage	3717	JAK2	ORPHA:71493
HP:0005268	Miscarriage	2215	FCGR3B	ORPHA:464370
HP:0005268	Miscarriage	2022	ENG	OMIM:187300
HP:0005268	Miscarriage	199713	NLRP7	OMIM:231090
HP:0005268	Miscarriage	5889	RAD51C	OMIM:613390
HP:0005268	Miscarriage	4256	MGP	OMIM:245150
HP:0005268	Miscarriage	283677	REC114	OMIM:619176
HP:0005268	Miscarriage	7468	NSD2	OMIM:619695
HP:0005268	Miscarriage	3043	HBB	ORPHA:2133
HP:0005268	Miscarriage	5346	PLIN1	OMIM:613877
HP:0005268	Miscarriage	462	SERPINC1	ORPHA:82
HP:0005268	Miscarriage	2055	CLN8	ORPHA:1947
HP:0005268	Miscarriage	7486	WRN	ORPHA:902
HP:0005268	Miscarriage	274	BIN1	ORPHA:169189
HP:0005268	Miscarriage	64419	MTMR14	ORPHA:169189
HP:0005268	Miscarriage	4618	MYF6	ORPHA:169189
HP:0005268	Miscarriage	1785	DNM2	ORPHA:169189
HP:0005268	Miscarriage	6261	RYR1	ORPHA:169189
HP:0005268	Miscarriage	3209	HOXA13	ORPHA:2438
HP:0005268	Miscarriage	3339	HSPG2	ORPHA:1865
HP:0005268	Miscarriage	2243	FGA	ORPHA:98880
HP:0005268	Miscarriage	2244	FGB	ORPHA:98880
HP:0005268	Miscarriage	2266	FGG	ORPHA:98880
HP:0005268	Miscarriage	5054	SERPINE1	ORPHA:465
HP:0005268	Miscarriage	213	ALB	ORPHA:86816
HP:0005268	Miscarriage	388015	RTL1	ORPHA:96334
HP:0005268	Miscarriage	8788	DLK1	ORPHA:96334
HP:0005268	Miscarriage	55384	MEG3	ORPHA:96334
HP:0005268	Miscarriage	6005	RHAG	ORPHA:71275
HP:0005268	Miscarriage	6006	RHCE	ORPHA:71275
HP:0005268	Miscarriage	6007	RHD	ORPHA:71275
HP:0031134	Cor triatrium sinister	745	MYRF	OMIM:618280
HP:0031136	Decreased acrosin in sperm head	83893	SPATA16	OMIM:102530
HP:0031137	Storage in hepatocytes	10159	ATP6AP2	OMIM:301045
HP:0031137	Storage in hepatocytes	3376	IARS1	OMIM:617093
HP:0031137	Storage in hepatocytes	3376	IARS1	ORPHA:541423
HP:0031137	Storage in hepatocytes	286053	NSMCE2	OMIM:617253
HP:0031137	Storage in hepatocytes	286053	NSMCE2	ORPHA:436182
HP:0031137	Storage in hepatocytes	30061	SLC40A1	ORPHA:139491
HP:0031137	Storage in hepatocytes	30061	SLC40A1	OMIM:606069
HP:0031137	Storage in hepatocytes	229	ALDOB	OMIM:229600
HP:0031137	Storage in hepatocytes	3033	HADH	OMIM:231530
HP:0031137	Storage in hepatocytes	3033	HADH	ORPHA:71212
HP:0031137	Storage in hepatocytes	11020	IFT27	OMIM:615996
HP:0031137	Storage in hepatocytes	132	ADK	OMIM:614300
HP:0031137	Storage in hepatocytes	60684	TRAPPC11	OMIM:615356
HP:0031137	Storage in hepatocytes	60684	TRAPPC11	ORPHA:369840
HP:0031137	Storage in hepatocytes	1355	COX15	OMIM:615119
HP:0031137	Storage in hepatocytes	63924	CIDEC	OMIM:615238
HP:0031137	Storage in hepatocytes	63924	CIDEC	ORPHA:435651
HP:0031137	Storage in hepatocytes	857	CAV1	OMIM:612526
HP:0031137	Storage in hepatocytes	857	CAV1	ORPHA:528
HP:0031137	Storage in hepatocytes	81570	CLPB	ORPHA:445038
HP:0031137	Storage in hepatocytes	81570	CLPB	OMIM:616271
HP:0031137	Storage in hepatocytes	51099	ABHD5	OMIM:275630
HP:0031137	Storage in hepatocytes	51099	ABHD5	ORPHA:98907
HP:0031137	Storage in hepatocytes	6718	AKR1D1	ORPHA:79303
HP:0031137	Storage in hepatocytes	80222	TARS2	OMIM:615918
HP:0031137	Storage in hepatocytes	26580	BSCL2	ORPHA:363400
HP:0031137	Storage in hepatocytes	26580	BSCL2	OMIM:269700
HP:0031137	Storage in hepatocytes	26580	BSCL2	ORPHA:528
HP:0031137	Storage in hepatocytes	6341	SCO1	OMIM:619048
HP:0031137	Storage in hepatocytes	4141	MARS1	OMIM:615486
HP:0031137	Storage in hepatocytes	8882	ZPR1	OMIM:619321
HP:0031137	Storage in hepatocytes	348	APOE	ORPHA:412
HP:0031137	Storage in hepatocytes	10165	SLC25A13	OMIM:603471
HP:0031137	Storage in hepatocytes	10165	SLC25A13	ORPHA:247598
HP:0031137	Storage in hepatocytes	10165	SLC25A13	ORPHA:247585
HP:0031137	Storage in hepatocytes	2542	SLC37A4	ORPHA:79259
HP:0031137	Storage in hepatocytes	2542	SLC37A4	OMIM:619525
HP:0031137	Storage in hepatocytes	3949	LDLR	ORPHA:391665
HP:0031137	Storage in hepatocytes	255738	PCSK9	ORPHA:391665
HP:0031137	Storage in hepatocytes	26119	LDLRAP1	ORPHA:391665
HP:0031137	Storage in hepatocytes	338	APOB	ORPHA:391665
HP:0031137	Storage in hepatocytes	64240	ABCG5	ORPHA:391665
HP:0031137	Storage in hepatocytes	64241	ABCG8	ORPHA:391665
HP:0031137	Storage in hepatocytes	60561	RINT1	OMIM:618641
HP:0031137	Storage in hepatocytes	4358	MPV17	OMIM:618400
HP:0031137	Storage in hepatocytes	4358	MPV17	OMIM:256810
HP:0031137	Storage in hepatocytes	537	ATP6AP1	OMIM:300972
HP:0031137	Storage in hepatocytes	34	ACADM	OMIM:201450
HP:0031137	Storage in hepatocytes	34	ACADM	ORPHA:42
HP:0031137	Storage in hepatocytes	5105	PCK1	OMIM:261680
HP:0031137	Storage in hepatocytes	50619	DEF6	OMIM:619573
HP:0031137	Storage in hepatocytes	3988	LIPA	OMIM:278000
HP:0031137	Storage in hepatocytes	26007	TKFC	OMIM:618805
HP:0031137	Storage in hepatocytes	5468	PPARG	ORPHA:79083
HP:0031137	Storage in hepatocytes	5468	PPARG	OMIM:604367
HP:0031137	Storage in hepatocytes	5468	PPARG	ORPHA:528
HP:0031137	Storage in hepatocytes	4000	LMNA	ORPHA:79084
HP:0031137	Storage in hepatocytes	4000	LMNA	OMIM:151660
HP:0031137	Storage in hepatocytes	4000	LMNA	ORPHA:79474
HP:0031137	Storage in hepatocytes	4000	LMNA	ORPHA:280365
HP:0031137	Storage in hepatocytes	4000	LMNA	ORPHA:2348
HP:0031137	Storage in hepatocytes	208	AKT2	ORPHA:79085
HP:0031137	Storage in hepatocytes	5346	PLIN1	OMIM:613877
HP:0031137	Storage in hepatocytes	5346	PLIN1	ORPHA:280356
HP:0031137	Storage in hepatocytes	84823	LMNB2	ORPHA:79087
HP:0031137	Storage in hepatocytes	84823	LMNB2	OMIM:608709
HP:0031137	Storage in hepatocytes	7840	ALMS1	OMIM:203800
HP:0031137	Storage in hepatocytes	7840	ALMS1	ORPHA:64
HP:0031137	Storage in hepatocytes	1581	CYP7A1	ORPHA:209902
HP:0031137	Storage in hepatocytes	1716	DGUOK	OMIM:251880
HP:0031137	Storage in hepatocytes	10555	AGPAT2	OMIM:608594
HP:0031137	Storage in hepatocytes	10555	AGPAT2	ORPHA:528
HP:0031137	Storage in hepatocytes	1717	DHCR7	OMIM:270400
HP:0031137	Storage in hepatocytes	4547	MTTP	ORPHA:14
HP:0031137	Storage in hepatocytes	6899	TBX1	OMIM:188400
HP:0031137	Storage in hepatocytes	5424	POLD1	OMIM:615381
HP:0031137	Storage in hepatocytes	8802	SUCLG1	ORPHA:17
HP:0031137	Storage in hepatocytes	84984	CEP19	OMIM:615703
HP:0031137	Storage in hepatocytes	2783	GNB2	OMIM:619503
HP:0031137	Storage in hepatocytes	28976	ACAD9	ORPHA:99901
HP:0031137	Storage in hepatocytes	5373	PMM2	OMIM:212065
HP:0031137	Storage in hepatocytes	1588	CYP19A1	ORPHA:91
HP:0031137	Storage in hepatocytes	37	ACADVL	OMIM:201475
HP:0031137	Storage in hepatocytes	54914	FOCAD	OMIM:619991
HP:0031137	Storage in hepatocytes	11222	MRPL3	OMIM:614582
HP:0031137	Storage in hepatocytes	6711	SPTBN1	OMIM:619475
HP:0031137	Storage in hepatocytes	3991	LIPE	ORPHA:435660
HP:0031137	Storage in hepatocytes	3991	LIPE	OMIM:615980
HP:0031137	Storage in hepatocytes	5566	PRKACA	ORPHA:189439
HP:0031137	Storage in hepatocytes	8622	PDE8B	ORPHA:189439
HP:0031137	Storage in hepatocytes	5573	PRKAR1A	ORPHA:189439
HP:0031137	Storage in hepatocytes	50940	PDE11A	ORPHA:189439
HP:0031137	Storage in hepatocytes	51520	LARS1	OMIM:615438
HP:0031137	Storage in hepatocytes	788	SLC25A20	OMIM:212138
HP:0031137	Storage in hepatocytes	540	ATP7B	ORPHA:905
HP:0031137	Storage in hepatocytes	540	ATP7B	OMIM:277900
HP:0031137	Storage in hepatocytes	5590	PRKCZ	ORPHA:1606
HP:0031137	Storage in hepatocytes	2563	GABRD	ORPHA:1606
HP:0031137	Storage in hepatocytes	23013	SPEN	ORPHA:1606
HP:0031137	Storage in hepatocytes	8510	MMP23B	ORPHA:1606
HP:0031137	Storage in hepatocytes	7798	LUZP1	ORPHA:1606
HP:0031137	Storage in hepatocytes	6497	SKI	ORPHA:1606
HP:0031137	Storage in hepatocytes	10630	PDPN	ORPHA:1606
HP:0031137	Storage in hepatocytes	3339	HSPG2	ORPHA:1606
HP:0031137	Storage in hepatocytes	10277	UBE4B	ORPHA:1606
HP:0031137	Storage in hepatocytes	8514	KCNAB2	ORPHA:1606
HP:0031137	Storage in hepatocytes	473	RERE	ORPHA:1606
HP:0031137	Storage in hepatocytes	63976	PRDM16	ORPHA:1606
HP:0031137	Storage in hepatocytes	54897	CASZ1	ORPHA:1606
HP:0031137	Storage in hepatocytes	10056	FARSB	OMIM:613658
HP:0031137	Storage in hepatocytes	6928	HNF1B	ORPHA:93111
HP:0031137	Storage in hepatocytes	10128	LRPPRC	ORPHA:70472
HP:0031137	Storage in hepatocytes	2203	FBP1	ORPHA:348
HP:0031137	Storage in hepatocytes	100147744	RNU7-1	OMIM:619487
HP:0031137	Storage in hepatocytes	5106	PCK2	OMIM:261650
HP:0031137	Storage in hepatocytes	79798	ARMC5	ORPHA:189427
HP:0031137	Storage in hepatocytes	2778	GNAS	ORPHA:189427
HP:0031137	Storage in hepatocytes	641	BLM	OMIM:210900
HP:0031137	Storage in hepatocytes	64135	IFIH1	OMIM:615846
HP:0031137	Storage in hepatocytes	7518	XRCC4	ORPHA:436182
HP:0031137	Storage in hepatocytes	51128	SAR1B	ORPHA:71
HP:0031137	Storage in hepatocytes	11128	POLR3A	ORPHA:3455
HP:0031137	Storage in hepatocytes	617	BCS1L	OMIM:124000
HP:0031137	Storage in hepatocytes	617	BCS1L	ORPHA:53693
HP:0031137	Storage in hepatocytes	3178	HNRNPA1	ORPHA:52430
HP:0031137	Storage in hepatocytes	7415	VCP	ORPHA:52430
HP:0031137	Storage in hepatocytes	3181	HNRNPA2B1	ORPHA:52430
HP:0031137	Storage in hepatocytes	57104	PNPLA2	OMIM:610717
HP:0031137	Storage in hepatocytes	57104	PNPLA2	ORPHA:98908
HP:0031137	Storage in hepatocytes	1650	DDOST	ORPHA:300536
HP:0031137	Storage in hepatocytes	51651	PTRH2	OMIM:616263
HP:0031137	Storage in hepatocytes	2819	GPD1	OMIM:614480
HP:0031137	Storage in hepatocytes	51081	MRPS7	OMIM:617872
HP:0031137	Storage in hepatocytes	2193	FARSA	OMIM:619013
HP:0031137	Storage in hepatocytes	8565	YARS1	OMIM:619418
HP:0031137	Storage in hepatocytes	1374	CPT1A	OMIM:255120
HP:0031137	Storage in hepatocytes	5236	PGM1	OMIM:614921
HP:0031137	Storage in hepatocytes	55005	RMND1	OMIM:614922
HP:0031137	Storage in hepatocytes	3295	HSD17B4	OMIM:261515
HP:0031137	Storage in hepatocytes	9757	KMT2B	OMIM:619934
HP:0031137	Storage in hepatocytes	147007	TMEM199	OMIM:616829
HP:0031137	Storage in hepatocytes	875	CBS	OMIM:236200
HP:0031137	Storage in hepatocytes	1376	CPT2	ORPHA:228305
HP:0031137	Storage in hepatocytes	1376	CPT2	ORPHA:228308
HP:0031137	Storage in hepatocytes	284119	CAVIN1	ORPHA:528
HP:0031137	Storage in hepatocytes	284119	CAVIN1	OMIM:613327
HP:0031137	Storage in hepatocytes	2353	FOS	ORPHA:528
HP:0031137	Storage in hepatocytes	8813	DPM1	ORPHA:79322
HP:0031137	Storage in hepatocytes	9054	NFS1	OMIM:619386
HP:0031137	Storage in hepatocytes	5256	PHKA2	ORPHA:264580
HP:0031137	Storage in hepatocytes	5261	PHKG2	ORPHA:264580
HP:0031137	Storage in hepatocytes	35	ACADS	ORPHA:26792
HP:0031137	Storage in hepatocytes	2108	ETFA	OMIM:231680
HP:0031137	Storage in hepatocytes	2109	ETFB	OMIM:231680
HP:0031137	Storage in hepatocytes	2110	ETFDH	OMIM:231680
HP:0031137	Storage in hepatocytes	5428	POLG	ORPHA:298
HP:0031137	Storage in hepatocytes	1890	TYMP	ORPHA:298
HP:0031137	Storage in hepatocytes	3980	LIG3	ORPHA:298
HP:0031137	Storage in hepatocytes	50484	RRM2B	ORPHA:298
HP:0031137	Storage in hepatocytes	55687	TRMU	OMIM:613070
HP:0031137	Storage in hepatocytes	51103	NDUFAF1	OMIM:618234
HP:0031137	Storage in hepatocytes	10651	MTX2	OMIM:619127
HP:0031137	Storage in hepatocytes	57128	LYRM4	OMIM:615595
HP:0031137	Storage in hepatocytes	8260	NAA10	OMIM:300855
HP:0031137	Storage in hepatocytes	125988	MICOS13	OMIM:618329
HP:0031137	Storage in hepatocytes	65082	VPS33A	OMIM:617303
HP:0031137	Storage in hepatocytes	1794	DOCK2	OMIM:616433
HP:0031137	Storage in hepatocytes	124454	EARS2	OMIM:614924
HP:0031137	Storage in hepatocytes	27183	VPS4A	OMIM:619273
HP:0031137	Storage in hepatocytes	55898	UNC45A	OMIM:619377
HP:0031137	Storage in hepatocytes	374354	NHLRC2	OMIM:618278
HP:0031137	Storage in hepatocytes	5277	PIGA	OMIM:300868
HP:0031137	Storage in hepatocytes	65080	MRPL44	OMIM:615395
HP:0031137	Storage in hepatocytes	79587	CARS2	OMIM:616672
HP:0031137	Storage in hepatocytes	7019	TFAM	OMIM:617156
HP:0031137	Storage in hepatocytes	11232	POLG2	OMIM:618528
HP:0031137	Storage in hepatocytes	131118	DNAJC19	OMIM:610198
HP:0031137	Storage in hepatocytes	131118	DNAJC19	ORPHA:66634
HP:0031137	Storage in hepatocytes	55768	NGLY1	ORPHA:404454
HP:0031137	Storage in hepatocytes	6584	SLC22A5	OMIM:212140
HP:0031137	Storage in hepatocytes	51	ACOX1	OMIM:264470
HP:0031137	Storage in hepatocytes	84334	COA8	ORPHA:436271
HP:0031137	Storage in hepatocytes	3032	HADHB	ORPHA:746
HP:0031137	Storage in hepatocytes	3030	HADHA	ORPHA:746
HP:0031137	Storage in hepatocytes	3155	HMGCL	ORPHA:20
HP:0031137	Storage in hepatocytes	4574	MT-TS1	OMIM:220110
HP:0031137	Storage in hepatocytes	4570	MT-TN	OMIM:220110
HP:0031137	Storage in hepatocytes	6834	SURF1	OMIM:220110
HP:0031137	Storage in hepatocytes	3172	HNF4A	ORPHA:263455
HP:0031137	Storage in hepatocytes	5836	PYGL	OMIM:232700
HP:0031137	Storage in hepatocytes	5836	PYGL	ORPHA:369
HP:0031137	Storage in hepatocytes	5257	PHKB	OMIM:261750
HP:0031137	Storage in hepatocytes	10667	FARS2	OMIM:614946
HP:0031137	Storage in hepatocytes	6389	SDHA	OMIM:619259
HP:0031137	Storage in hepatocytes	56922	MCCC1	OMIM:210200
HP:0031137	Storage in hepatocytes	28234	SLCO1B3	ORPHA:3111
HP:0031137	Storage in hepatocytes	10599	SLCO1B1	ORPHA:3111
HP:0031137	Storage in hepatocytes	6514	SLC2A2	ORPHA:2088
HP:0031138	Abnormal B-type natriuretic peptide concentration	5921	RASA1	ORPHA:90307
HP:0031138	Abnormal B-type natriuretic peptide concentration	6392	SDHD	ORPHA:100093
HP:0031138	Abnormal B-type natriuretic peptide concentration	7276	TTR	ORPHA:85451
HP:0031138	Abnormal B-type natriuretic peptide concentration	2548	GAA	OMIM:232300
HP:0031138	Abnormal B-type natriuretic peptide concentration	9529	BAG5	OMIM:619747
HP:0031138	Abnormal B-type natriuretic peptide concentration	7139	TNNT2	OMIM:601494
HP:0031139	Frog-leg posture	6261	RYR1	ORPHA:98905
HP:0031139	Frog-leg posture	6261	RYR1	ORPHA:324581
HP:0031139	Frog-leg posture	5430	POLR2A	OMIM:618603
HP:0031139	Frog-leg posture	1737	DLAT	ORPHA:79244
HP:0100237	Proximal foot symphalangism	9241	NOG	OMIM:186500
HP:0100238	Synostosis involving bones of the upper limbs	3549	IHH	OMIM:112500
HP:0100238	Synostosis involving bones of the upper limbs	3549	IHH	ORPHA:93388
HP:0100238	Synostosis involving bones of the upper limbs	538	ATP7A	OMIM:304150
HP:0100238	Synostosis involving bones of the upper limbs	54928	BPNT2	OMIM:614078
HP:0100238	Synostosis involving bones of the upper limbs	23476	BRD4	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	9126	SMC3	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	8243	SMC1A	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	25836	NIPBL	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	55869	HDAC8	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	5885	RAD21	ORPHA:199
HP:0100238	Synostosis involving bones of the upper limbs	5885	RAD21	OMIM:614701
HP:0100238	Synostosis involving bones of the upper limbs	11285	B4GALT7	OMIM:130070
HP:0100238	Synostosis involving bones of the upper limbs	4091	SMAD6	OMIM:179300
HP:0100238	Synostosis involving bones of the upper limbs	10262	SF3B4	OMIM:154400
HP:0100238	Synostosis involving bones of the upper limbs	10262	SF3B4	ORPHA:1788
HP:0100238	Synostosis involving bones of the upper limbs	6910	TBX5	ORPHA:392
HP:0100238	Synostosis involving bones of the upper limbs	5648	MASP1	OMIM:257920
HP:0100238	Synostosis involving bones of the upper limbs	5648	MASP1	ORPHA:293843
HP:0100238	Synostosis involving bones of the upper limbs	6154	RPL26	OMIM:614900
HP:0100238	Synostosis involving bones of the upper limbs	6804	STX1A	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	7461	CLIP2	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	84277	DNAJC30	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	8468	FKBP6	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	5982	RFC2	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	2969	GTF2I	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	3984	LIMK1	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	9569	GTF2IRD1	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	155382	VPS37D	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	155368	METTL27	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	114049	BUD23	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	7458	EIF4H	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	84163	GTF2IRD2	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	9275	BCL7B	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	26608	TBL2	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	653361	NCF1	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	135886	TMEM270	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	51085	MLXIPL	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	51085	MLXIPL	OMIM:194050
HP:0100238	Synostosis involving bones of the upper limbs	9031	BAZ1B	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	2006	ELN	ORPHA:904
HP:0100238	Synostosis involving bones of the upper limbs	2006	ELN	OMIM:194050
HP:0100238	Synostosis involving bones of the upper limbs	2122	MECOM	ORPHA:71289
HP:0100238	Synostosis involving bones of the upper limbs	2122	MECOM	OMIM:616738
HP:0100238	Synostosis involving bones of the upper limbs	3207	HOXA11	ORPHA:71289
HP:0100238	Synostosis involving bones of the upper limbs	157570	ESCO2	ORPHA:3103
HP:0100238	Synostosis involving bones of the upper limbs	157570	ESCO2	ORPHA:2319
HP:0100238	Synostosis involving bones of the upper limbs	78989	COLEC11	OMIM:265050
HP:0100238	Synostosis involving bones of the upper limbs	78989	COLEC11	ORPHA:293843
HP:0100238	Synostosis involving bones of the upper limbs	54880	BCOR	OMIM:300166
HP:0100238	Synostosis involving bones of the upper limbs	54880	BCOR	ORPHA:2712
HP:0100238	Synostosis involving bones of the upper limbs	4094	MAF	ORPHA:1272
HP:0100238	Synostosis involving bones of the upper limbs	4094	MAF	OMIM:601088
HP:0100238	Synostosis involving bones of the upper limbs	29998	BICRA	OMIM:619325
HP:0100238	Synostosis involving bones of the upper limbs	23522	KAT6B	ORPHA:85201
HP:0100238	Synostosis involving bones of the upper limbs	23522	KAT6B	OMIM:606170
HP:0100238	Synostosis involving bones of the upper limbs	1723	DHODH	OMIM:263750
HP:0100238	Synostosis involving bones of the upper limbs	324	APC	ORPHA:3258
HP:0100238	Synostosis involving bones of the upper limbs	63895	PIEZO2	OMIM:248700
HP:0100238	Synostosis involving bones of the upper limbs	63895	PIEZO2	ORPHA:2461
HP:0100238	Synostosis involving bones of the upper limbs	10584	COLEC10	OMIM:248340
HP:0100238	Synostosis involving bones of the upper limbs	10584	COLEC10	ORPHA:293843
HP:0100238	Synostosis involving bones of the upper limbs	50945	TBX22	OMIM:302905
HP:0100238	Synostosis involving bones of the upper limbs	50945	TBX22	ORPHA:921
HP:0100238	Synostosis involving bones of the upper limbs	22800	RRAS2	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	867	CBL	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	8216	LZTR1	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	6016	RIT1	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	6237	RRAS	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	5894	RAF1	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	22808	MRAS	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	3845	KRAS	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	200734	SPRED2	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	4893	NRAS	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	6654	SOS1	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	6655	SOS2	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	5781	PTPN11	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	5922	RASA2	ORPHA:648
HP:0100238	Synostosis involving bones of the upper limbs	64131	XYLT1	ORPHA:1425
HP:0100238	Synostosis involving bones of the upper limbs	124583	CANT1	ORPHA:1425
HP:0100238	Synostosis involving bones of the upper limbs	55790	CSGALNACT1	ORPHA:1425
HP:0100238	Synostosis involving bones of the upper limbs	9469	CHST3	OMIM:245600
HP:0100238	Synostosis involving bones of the upper limbs	26229	B3GAT3	OMIM:245600
HP:0100238	Synostosis involving bones of the upper limbs	2263	FGFR2	OMIM:101400
HP:0100238	Synostosis involving bones of the upper limbs	29980	DONSON	OMIM:617604
HP:0100238	Synostosis involving bones of the upper limbs	53834	FGFRL1	OMIM:194190
HP:0100238	Synostosis involving bones of the upper limbs	1487	CTBP1	OMIM:194190
HP:0100238	Synostosis involving bones of the upper limbs	3954	LETM1	OMIM:194190
HP:0100238	Synostosis involving bones of the upper limbs	7468	NSD2	OMIM:194190
HP:0100238	Synostosis involving bones of the upper limbs	10815	CPLX1	OMIM:194190
HP:0100238	Synostosis involving bones of the upper limbs	26040	SETBP1	ORPHA:798
HP:0100238	Synostosis involving bones of the upper limbs	6913	TBX15	OMIM:260660
HP:0100238	Synostosis involving bones of the upper limbs	6913	TBX15	ORPHA:93333
HP:0100238	Synostosis involving bones of the upper limbs	2260	FGFR1	OMIM:101600
HP:0100238	Synostosis involving bones of the upper limbs	7476	WNT7A	ORPHA:2879
HP:0100238	Synostosis involving bones of the upper limbs	7476	WNT7A	OMIM:276820
HP:0100238	Synostosis involving bones of the upper limbs	56603	CYP26B1	OMIM:614416
HP:0100238	Synostosis involving bones of the upper limbs	64359	NXN	ORPHA:1507
HP:0100238	Synostosis involving bones of the upper limbs	64327	LMBR1	ORPHA:988
HP:0100238	Synostosis involving bones of the upper limbs	6469	SHH	ORPHA:988
HP:0100238	Synostosis involving bones of the upper limbs	3209	HOXA13	ORPHA:2438
HP:0100238	Synostosis involving bones of the upper limbs	5566	PRKACA	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	5567	PRKACB	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	2735	GLI1	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	2121	EVC	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	51626	DYNC2LI1	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	132884	EVC2	ORPHA:289
HP:0100238	Synostosis involving bones of the upper limbs	9555	MACROH2A1	ORPHA:1275
HP:0100238	Synostosis involving bones of the upper limbs	5307	PITX1	ORPHA:1275
HP:0100238	Synostosis involving bones of the upper limbs	8823	FGF16	OMIM:309630
HP:0100238	Synostosis involving bones of the upper limbs	64093	SMOC1	OMIM:206920
HP:0100238	Synostosis involving bones of the upper limbs	9775	EIF4A3	OMIM:268305
HP:0100238	Synostosis involving bones of the upper limbs	9791	PTDSS1	OMIM:151050
HP:0100238	Synostosis involving bones of the upper limbs	9241	NOG	OMIM:611377
HP:0100238	Synostosis involving bones of the upper limbs	9241	NOG	OMIM:186570
HP:0100238	Synostosis involving bones of the upper limbs	9241	NOG	OMIM:185800
HP:0100238	Synostosis involving bones of the upper limbs	22856	CHSY1	ORPHA:363417
HP:0100238	Synostosis involving bones of the upper limbs	145258	GSC	OMIM:602471
HP:0100238	Synostosis involving bones of the upper limbs	4920	ROR2	OMIM:268310
HP:0100238	Synostosis involving bones of the upper limbs	7021	TFAP2B	OMIM:169100
HP:0100238	Synostosis involving bones of the upper limbs	10084	PQBP1	OMIM:309500
HP:0100238	Synostosis involving bones of the upper limbs	9401	RECQL4	ORPHA:221016
HP:0100238	Synostosis involving bones of the upper limbs	8200	GDF5	OMIM:610017
HP:0100238	Synostosis involving bones of the upper limbs	64682	ANAPC1	ORPHA:221008
HP:0100238	Synostosis involving bones of the upper limbs	727857	BHLHA9	ORPHA:157801
HP:0100238	Synostosis involving bones of the upper limbs	2254	FGF9	OMIM:612961
HP:0100238	Synostosis involving bones of the upper limbs	4038	LRP4	OMIM:212780
HP:0100238	Synostosis involving bones of the upper limbs	7291	TWIST1	ORPHA:35099
HP:0100238	Synostosis involving bones of the upper limbs	6938	TCF12	ORPHA:35099
HP:0100238	Synostosis involving bones of the upper limbs	7545	ZIC1	ORPHA:35099
HP:0100238	Synostosis involving bones of the upper limbs	4621	MYH3	OMIM:178110
HP:0100238	Synostosis involving bones of the upper limbs	2316	FLNA	OMIM:305620
HP:0100238	Synostosis involving bones of the upper limbs	2316	FLNA	ORPHA:90652
HP:0100238	Synostosis involving bones of the upper limbs	5447	POR	OMIM:201750
HP:0100238	Synostosis involving bones of the upper limbs	85301	COL27A1	OMIM:615155
HP:0100238	Synostosis involving bones of the upper limbs	57167	SALL4	OMIM:147750
HP:0100238	Synostosis involving bones of the upper limbs	2261	FGFR3	ORPHA:53271
HP:0100238	Synostosis involving bones of the upper limbs	2317	FLNB	OMIM:272460
HP:0100238	Synostosis involving bones of the upper limbs	9939	RBM8A	OMIM:274000
HP:0100238	Synostosis involving bones of the upper limbs	5077	PAX3	OMIM:148820
HP:0100238	Synostosis involving bones of the upper limbs	658	BMPR1B	OMIM:609441
HP:0100238	Synostosis involving bones of the upper limbs	3239	HOXD13	OMIM:186300
HP:0100238	Synostosis involving bones of the upper limbs	6885	MAP3K7	OMIM:157800
HP:0100238	Synostosis involving bones of the upper limbs	2192	FBLN1	OMIM:608180
HP:0100238	Synostosis involving bones of the upper limbs	126792	B3GALT6	OMIM:615349
HP:0100238	Synostosis involving bones of the upper limbs	126792	B3GALT6	OMIM:271640
HP:0100238	Synostosis involving bones of the upper limbs	4841	NONO	ORPHA:466791
HP:0100235	Synostosis involving bones of the toes	727857	BHLHA9	OMIM:609432
HP:0100235	Synostosis involving bones of the toes	9241	NOG	OMIM:186500
HP:0100235	Synostosis involving bones of the toes	51776	MAP3K20	ORPHA:488232
HP:0100491	Abnormality of lower limb joint	9361	LONP1	OMIM:600373
HP:0100491	Abnormality of lower limb joint	9361	LONP1	ORPHA:1458
HP:0100491	Abnormality of lower limb joint	64840	PORCN	OMIM:305600
HP:0100491	Abnormality of lower limb joint	6628	SNRPB	OMIM:117650
HP:0100491	Abnormality of lower limb joint	9759	HDAC4	OMIM:619797
HP:0100491	Abnormality of lower limb joint	134218	DNAJC21	OMIM:617052
HP:0100491	Abnormality of lower limb joint	1182	CLCN3	OMIM:619512
HP:0100491	Abnormality of lower limb joint	2138	EYA1	OMIM:113650
HP:0100491	Abnormality of lower limb joint	6495	SIX1	OMIM:113650
HP:0100491	Abnormality of lower limb joint	84627	ZNF469	OMIM:229200
HP:0100491	Abnormality of lower limb joint	5048	PAFAH1B1	ORPHA:217385
HP:0100491	Abnormality of lower limb joint	7531	YWHAE	ORPHA:217385
HP:0100491	Abnormality of lower limb joint	23363	OBSL1	ORPHA:2616
HP:0100491	Abnormality of lower limb joint	83987	CCDC8	ORPHA:2616
HP:0100491	Abnormality of lower limb joint	1131	CHRM3	ORPHA:2970
HP:0100491	Abnormality of lower limb joint	1131	CHRM3	OMIM:100100
HP:0100491	Abnormality of lower limb joint	10060	ABCC9	OMIM:619719
HP:0100491	Abnormality of lower limb joint	23545	ATP6V0A2	OMIM:219200
HP:0100491	Abnormality of lower limb joint	23545	ATP6V0A2	ORPHA:357074
HP:0100491	Abnormality of lower limb joint	23545	ATP6V0A2	ORPHA:2834
HP:0100491	Abnormality of lower limb joint	23545	ATP6V0A2	OMIM:278250
HP:0100491	Abnormality of lower limb joint	89910	UBE3B	OMIM:244450
HP:0100491	Abnormality of lower limb joint	1723	DHODH	OMIM:263750
HP:0100491	Abnormality of lower limb joint	60482	SLC5A7	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	4649	MYO9A	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	1305	COL13A1	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	1103	CHAT	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	6576	SLC25A1	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	6843	VAMP1	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	375790	AGRN	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	6572	SLC18A3	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	6616	SNAP25	ORPHA:98914
HP:0100491	Abnormality of lower limb joint	55768	NGLY1	ORPHA:404454
HP:0100491	Abnormality of lower limb joint	2273	FHL1	OMIM:300280
HP:0100491	Abnormality of lower limb joint	6904	TBCD	ORPHA:496641
HP:0100491	Abnormality of lower limb joint	7547	ZIC3	OMIM:306955
HP:0100491	Abnormality of lower limb joint	2239	GPC4	ORPHA:373
HP:0100491	Abnormality of lower limb joint	2719	GPC3	ORPHA:373
HP:0100491	Abnormality of lower limb joint	529	ATP6V1E1	ORPHA:357074
HP:0100491	Abnormality of lower limb joint	5528	PPP2R5D	ORPHA:457279
HP:0100491	Abnormality of lower limb joint	5528	PPP2R5D	OMIM:616355
HP:0100491	Abnormality of lower limb joint	8260	NAA10	OMIM:300855
HP:0100491	Abnormality of lower limb joint	50814	NSDHL	OMIM:308050
HP:0100491	Abnormality of lower limb joint	50628	GEMIN4	OMIM:617913
HP:0100491	Abnormality of lower limb joint	6913	TBX15	ORPHA:93333
HP:0100491	Abnormality of lower limb joint	1281	COL3A1	ORPHA:286
HP:0100491	Abnormality of lower limb joint	9427	ECEL1	OMIM:615065
HP:0100491	Abnormality of lower limb joint	7067	THRA	OMIM:614450
HP:0100491	Abnormality of lower limb joint	3239	HOXD13	ORPHA:93406
HP:0100491	Abnormality of lower limb joint	2254	FGF9	OMIM:612961
HP:0100491	Abnormality of lower limb joint	6299	SALL1	OMIM:107480
HP:0100491	Abnormality of lower limb joint	6775	STAT4	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	3560	IL2RB	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	79722	ANKRD55	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	26191	PTPN22	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	919	CD247	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	3559	IL2RA	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	5771	PTPN2	ORPHA:85408
HP:0100491	Abnormality of lower limb joint	9935	MAFB	OMIM:166300
HP:0100491	Abnormality of lower limb joint	2324	FLT4	ORPHA:79452
HP:0100491	Abnormality of lower limb joint	57165	GJC2	ORPHA:79452
HP:0100491	Abnormality of lower limb joint	65125	WNK1	ORPHA:970
HP:0100491	Abnormality of lower limb joint	54463	RETREG1	ORPHA:970
HP:0100491	Abnormality of lower limb joint	547	KIF1A	ORPHA:970
HP:0100491	Abnormality of lower limb joint	427	ASAH1	ORPHA:333
HP:0100491	Abnormality of lower limb joint	5167	ENPP1	ORPHA:51608
HP:0100491	Abnormality of lower limb joint	368	ABCC6	ORPHA:51608
HP:0100491	Abnormality of lower limb joint	89970	RSPRY1	ORPHA:457395
HP:0100491	Abnormality of lower limb joint	3852	KRT5	ORPHA:158681
HP:0100491	Abnormality of lower limb joint	4010	LMX1B	ORPHA:2614
HP:0100491	Abnormality of lower limb joint	1280	COL2A1	ORPHA:93316
HP:0100491	Abnormality of lower limb joint	23314	SATB2	ORPHA:251028
HP:0100491	Abnormality of lower limb joint	3248	HPGD	ORPHA:1525
HP:0100491	Abnormality of lower limb joint	9496	TBX4	ORPHA:1509
HP:0100491	Abnormality of lower limb joint	4210	MEFV	ORPHA:329967
HP:0100491	Abnormality of lower limb joint	7132	TNFRSF1A	ORPHA:329967
HP:0100491	Abnormality of lower limb joint	1294	COL7A1	ORPHA:158673
HP:0100491	Abnormality of lower limb joint	8838	CCN6	ORPHA:1159
HP:0100491	Abnormality of lower limb joint	1297	COL9A1	OMIM:614135
HP:0100491	Abnormality of lower limb joint	1297	COL9A1	ORPHA:166002
HP:0100491	Abnormality of lower limb joint	8292	COLQ	ORPHA:98915
HP:0100491	Abnormality of lower limb joint	3913	LAMB2	ORPHA:98915
HP:0100491	Abnormality of lower limb joint	23204	ARL6IP1	ORPHA:401780
HP:0100491	Abnormality of lower limb joint	1298	COL9A2	ORPHA:166002
HP:0100491	Abnormality of lower limb joint	1299	COL9A3	ORPHA:166002
HP:0100491	Abnormality of lower limb joint	6497	SKI	OMIM:182212
HP:0100491	Abnormality of lower limb joint	11285	B4GALT7	OMIM:130070
HP:0100491	Abnormality of lower limb joint	4123	MAN2C1	OMIM:619775
HP:0100491	Abnormality of lower limb joint	2200	FBN1	OMIM:154700
HP:0100491	Abnormality of lower limb joint	2892	GRIA3	ORPHA:364028
HP:0100491	Abnormality of lower limb joint	4998	ORC1	OMIM:224690
HP:0100491	Abnormality of lower limb joint	1278	COL1A2	OMIM:225320
HP:0100491	Abnormality of lower limb joint	1278	COL1A2	ORPHA:230851
HP:0100491	Abnormality of lower limb joint	3265	HRAS	ORPHA:2612
HP:0100491	Abnormality of lower limb joint	3845	KRAS	ORPHA:2612
HP:0100491	Abnormality of lower limb joint	4893	NRAS	ORPHA:2612
HP:0100491	Abnormality of lower limb joint	9469	CHST3	OMIM:143095
HP:0100491	Abnormality of lower limb joint	57479	PRR12	OMIM:619539
HP:0100491	Abnormality of lower limb joint	2006	ELN	ORPHA:90348
HP:0100491	Abnormality of lower limb joint	10516	FBLN5	ORPHA:90348
HP:0100491	Abnormality of lower limb joint	5832	ALDH18A1	ORPHA:90348
HP:0100491	Abnormality of lower limb joint	285590	SH3PXD2B	ORPHA:137834
HP:0100491	Abnormality of lower limb joint	1073	CFL2	OMIM:610687
HP:0100491	Abnormality of lower limb joint	8936	WASF1	OMIM:618707
HP:0100491	Abnormality of lower limb joint	64131	XYLT1	ORPHA:1425
HP:0100491	Abnormality of lower limb joint	124583	CANT1	ORPHA:1425
HP:0100491	Abnormality of lower limb joint	55790	CSGALNACT1	ORPHA:1425
HP:0100491	Abnormality of lower limb joint	9150	CTDP1	OMIM:604168
HP:0100491	Abnormality of lower limb joint	9321	TRIP11	OMIM:184260
HP:0100491	Abnormality of lower limb joint	6536	SLC6A9	OMIM:617301
HP:0100491	Abnormality of lower limb joint	5728	PTEN	ORPHA:2969
HP:0100491	Abnormality of lower limb joint	2245	FGD1	ORPHA:915
HP:0100491	Abnormality of lower limb joint	81620	CDT1	OMIM:613804
HP:0100491	Abnormality of lower limb joint	57192	MCOLN1	ORPHA:578
HP:0100491	Abnormality of lower limb joint	203859	ANO5	ORPHA:206549
HP:0100491	Abnormality of lower limb joint	22827	PUF60	ORPHA:508498
HP:0100491	Abnormality of lower limb joint	22827	PUF60	OMIM:615583
HP:0100491	Abnormality of lower limb joint	55906	ZC4H2	OMIM:301041
HP:0100491	Abnormality of lower limb joint	55906	ZC4H2	OMIM:314580
HP:0100491	Abnormality of lower limb joint	55703	POLR3B	OMIM:614381
HP:0100491	Abnormality of lower limb joint	10262	SF3B4	OMIM:154400
HP:0100491	Abnormality of lower limb joint	56896	DPYSL5	OMIM:619435
HP:0100491	Abnormality of lower limb joint	579	NKX3-2	OMIM:613330
HP:0100491	Abnormality of lower limb joint	100151683	RNU4ATAC	OMIM:210710
HP:0100491	Abnormality of lower limb joint	100151683	RNU4ATAC	OMIM:226960
HP:0100491	Abnormality of lower limb joint	10054	UBA2	OMIM:619959
HP:0100491	Abnormality of lower limb joint	79796	ALG9	OMIM:608776
HP:0100491	Abnormality of lower limb joint	1303	COL12A1	ORPHA:75840
HP:0100491	Abnormality of lower limb joint	1303	COL12A1	OMIM:616471
HP:0100491	Abnormality of lower limb joint	2317	FLNB	ORPHA:56305
HP:0100491	Abnormality of lower limb joint	2317	FLNB	OMIM:150250
HP:0100491	Abnormality of lower limb joint	4784	NFIX	ORPHA:447980
HP:0100491	Abnormality of lower limb joint	6662	SOX9	ORPHA:140
HP:0100491	Abnormality of lower limb joint	6662	SOX9	OMIM:114290
HP:0100491	Abnormality of lower limb joint	58	ACTA1	ORPHA:171436
HP:0100491	Abnormality of lower limb joint	7169	TPM2	ORPHA:171436
HP:0100491	Abnormality of lower limb joint	4703	NEB	ORPHA:171436
HP:0100491	Abnormality of lower limb joint	10324	KLHL41	ORPHA:171436
HP:0100491	Abnormality of lower limb joint	56203	LMOD3	ORPHA:171436
HP:0100491	Abnormality of lower limb joint	55784	MCTP2	ORPHA:1596
HP:0100491	Abnormality of lower limb joint	8085	KMT2D	ORPHA:2322
HP:0100491	Abnormality of lower limb joint	7403	KDM6A	ORPHA:2322
HP:0100491	Abnormality of lower limb joint	7403	KDM6A	OMIM:300867
HP:0100491	Abnormality of lower limb joint	5831	PYCR1	OMIM:614438
HP:0100491	Abnormality of lower limb joint	5831	PYCR1	ORPHA:2078
HP:0100491	Abnormality of lower limb joint	16	AARS1	OMIM:616339
HP:0100491	Abnormality of lower limb joint	51010	EXOSC3	OMIM:614678
HP:0100491	Abnormality of lower limb joint	1717	DHCR7	ORPHA:818
HP:0100491	Abnormality of lower limb joint	1717	DHCR7	OMIM:270400
HP:0100491	Abnormality of lower limb joint	9915	ARNT2	OMIM:615926
HP:0100491	Abnormality of lower limb joint	10225	CD96	OMIM:211750
HP:0100491	Abnormality of lower limb joint	79158	GNPTAB	OMIM:252500
HP:0100491	Abnormality of lower limb joint	79158	GNPTAB	ORPHA:576
HP:0100491	Abnormality of lower limb joint	4626	MYH8	ORPHA:3377
HP:0100491	Abnormality of lower limb joint	4626	MYH8	OMIM:158300
HP:0100491	Abnormality of lower limb joint	4952	OCRL	ORPHA:534
HP:0100491	Abnormality of lower limb joint	4952	OCRL	OMIM:309000
HP:0100491	Abnormality of lower limb joint	2067	ERCC1	OMIM:610758
HP:0100491	Abnormality of lower limb joint	4038	LRP4	ORPHA:3258
HP:0100491	Abnormality of lower limb joint	324	APC	ORPHA:3258
HP:0100491	Abnormality of lower limb joint	2187	FANCB	ORPHA:3412
HP:0100491	Abnormality of lower limb joint	2187	FANCB	ORPHA:84
HP:0100491	Abnormality of lower limb joint	23499	MACF1	ORPHA:572013
HP:0100491	Abnormality of lower limb joint	387119	CEP85L	ORPHA:572013
HP:0100491	Abnormality of lower limb joint	64135	IFIH1	OMIM:182250
HP:0100491	Abnormality of lower limb joint	29925	GMPPB	ORPHA:370968
HP:0100491	Abnormality of lower limb joint	79147	FKRP	ORPHA:370968
HP:0100491	Abnormality of lower limb joint	29954	POMT2	ORPHA:370968
HP:0100491	Abnormality of lower limb joint	29954	POMT2	OMIM:613156
HP:0100491	Abnormality of lower limb joint	9215	LARGE1	ORPHA:370968
HP:0100491	Abnormality of lower limb joint	10585	POMT1	ORPHA:370968
HP:0100491	Abnormality of lower limb joint	4621	MYH3	OMIM:193700
HP:0100491	Abnormality of lower limb joint	1351	COX8A	OMIM:619059
HP:0100491	Abnormality of lower limb joint	2530	FUT8	OMIM:618005
HP:0100491	Abnormality of lower limb joint	4052	LTBP1	OMIM:619451
HP:0100491	Abnormality of lower limb joint	4052	LTBP1	ORPHA:90349
HP:0100491	Abnormality of lower limb joint	3899	AFF3	OMIM:619297
HP:0100491	Abnormality of lower limb joint	165	AEBP1	OMIM:618000
HP:0100491	Abnormality of lower limb joint	165	AEBP1	ORPHA:536532
HP:0100491	Abnormality of lower limb joint	3572	IL6ST	OMIM:618523
HP:0100491	Abnormality of lower limb joint	55699	IARS2	ORPHA:436174
HP:0100491	Abnormality of lower limb joint	55699	IARS2	OMIM:616007
HP:0100491	Abnormality of lower limb joint	9820	CUL7	OMIM:273750
HP:0100491	Abnormality of lower limb joint	672	BRCA1	ORPHA:84
HP:0100491	Abnormality of lower limb joint	10459	MAD2L2	ORPHA:84
HP:0100491	Abnormality of lower limb joint	7516	XRCC2	ORPHA:84
HP:0100491	Abnormality of lower limb joint	29089	UBE2T	ORPHA:84
HP:0100491	Abnormality of lower limb joint	675	BRCA2	ORPHA:84
HP:0100491	Abnormality of lower limb joint	55120	FANCL	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2177	FANCD2	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2175	FANCA	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2176	FANCC	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2178	FANCE	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2188	FANCF	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2189	FANCG	ORPHA:84
HP:0100491	Abnormality of lower limb joint	5888	RAD51	ORPHA:84
HP:0100491	Abnormality of lower limb joint	5889	RAD51C	ORPHA:84
HP:0100491	Abnormality of lower limb joint	55159	RFWD3	ORPHA:84
HP:0100491	Abnormality of lower limb joint	83990	BRIP1	ORPHA:84
HP:0100491	Abnormality of lower limb joint	57697	FANCM	ORPHA:84
HP:0100491	Abnormality of lower limb joint	79728	PALB2	ORPHA:84
HP:0100491	Abnormality of lower limb joint	84464	SLX4	ORPHA:84
HP:0100491	Abnormality of lower limb joint	2072	ERCC4	ORPHA:84
HP:0100491	Abnormality of lower limb joint	55215	FANCI	ORPHA:84
HP:0100491	Abnormality of lower limb joint	6678	SPARC	OMIM:616507
HP:0100491	Abnormality of lower limb joint	9719	ADAMTSL2	ORPHA:1901
HP:0100491	Abnormality of lower limb joint	9509	ADAMTS2	ORPHA:1901
HP:0100491	Abnormality of lower limb joint	8200	GDF5	ORPHA:968
HP:0100491	Abnormality of lower limb joint	8200	GDF5	OMIM:201250
HP:0100491	Abnormality of lower limb joint	5351	PLOD1	ORPHA:1900
HP:0100491	Abnormality of lower limb joint	64093	SMOC1	ORPHA:1106
HP:0100491	Abnormality of lower limb joint	64093	SMOC1	OMIM:206920
HP:0100491	Abnormality of lower limb joint	25778	DSTYK	ORPHA:101003
HP:0100491	Abnormality of lower limb joint	1277	COL1A1	ORPHA:287
HP:0100491	Abnormality of lower limb joint	1277	COL1A1	ORPHA:1899
HP:0100491	Abnormality of lower limb joint	1289	COL5A1	ORPHA:287
HP:0100491	Abnormality of lower limb joint	1290	COL5A2	ORPHA:287
HP:0100491	Abnormality of lower limb joint	57531	HACE1	ORPHA:464282
HP:0100491	Abnormality of lower limb joint	57531	HACE1	OMIM:616756
HP:0100491	Abnormality of lower limb joint	2743	GLRB	ORPHA:3197
HP:0100491	Abnormality of lower limb joint	2741	GLRA1	ORPHA:3197
HP:0100491	Abnormality of lower limb joint	2741	GLRA1	OMIM:149400
HP:0100491	Abnormality of lower limb joint	10243	GPHN	ORPHA:3197
HP:0100491	Abnormality of lower limb joint	10243	GPHN	OMIM:149400
HP:0100491	Abnormality of lower limb joint	84896	ATAD1	ORPHA:3197
HP:0100491	Abnormality of lower limb joint	9152	SLC6A5	ORPHA:3197
HP:0100491	Abnormality of lower limb joint	9896	FIG4	ORPHA:3472
HP:0100491	Abnormality of lower limb joint	9896	FIG4	OMIM:216340
HP:0100491	Abnormality of lower limb joint	55697	VAC14	ORPHA:3472
HP:0100491	Abnormality of lower limb joint	860	RUNX2	OMIM:119600
HP:0100491	Abnormality of lower limb joint	22872	SEC31A	OMIM:618651
HP:0100491	Abnormality of lower limb joint	26175	LYSET	OMIM:619345
HP:0100491	Abnormality of lower limb joint	9451	EIF2AK3	OMIM:226980
HP:0100491	Abnormality of lower limb joint	10682	EBP	ORPHA:35173
HP:0100491	Abnormality of lower limb joint	545	ATR	OMIM:210600
HP:0100491	Abnormality of lower limb joint	28514	DLL1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	28514	DLL1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	28514	DLL1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	28514	DLL1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	2253	FGF8	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	2253	FGF8	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	2253	FGF8	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	2253	FGF8	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	6496	SIX3	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	6496	SIX3	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	6496	SIX3	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	6496	SIX3	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	7050	TGIF1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	7050	TGIF1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	7050	TGIF1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	7050	TGIF1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	4838	NODAL	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	4838	NODAL	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	4838	NODAL	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	4838	NODAL	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	6469	SHH	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	6469	SHH	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	6469	SHH	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	6469	SHH	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	7546	ZIC2	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	7546	ZIC2	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	7546	ZIC2	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	7546	ZIC2	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	6491	STIL	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	6491	STIL	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	6491	STIL	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	6491	STIL	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	2619	GAS1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	2619	GAS1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	2619	GAS1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	2619	GAS1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	84976	DISP1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	84976	DISP1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	84976	DISP1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	84976	DISP1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	2736	GLI2	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	2736	GLI2	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	2736	GLI2	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	2736	GLI2	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	8928	FOXH1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	8928	FOXH1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	8928	FOXH1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	8928	FOXH1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	5727	PTCH1	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	5727	PTCH1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	5727	PTCH1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	5727	PTCH1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	50937	CDON	ORPHA:93926
HP:0100491	Abnormality of lower limb joint	50937	CDON	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	50937	CDON	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	50937	CDON	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	2260	FGFR1	ORPHA:93924
HP:0100491	Abnormality of lower limb joint	2260	FGFR1	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	23007	PLCH1	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	10735	STAG2	ORPHA:93925
HP:0100491	Abnormality of lower limb joint	10735	STAG2	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	53834	FGFRL1	OMIM:194190
HP:0100491	Abnormality of lower limb joint	1487	CTBP1	OMIM:194190
HP:0100491	Abnormality of lower limb joint	3954	LETM1	OMIM:194190
HP:0100491	Abnormality of lower limb joint	7468	NSD2	OMIM:194190
HP:0100491	Abnormality of lower limb joint	10815	CPLX1	OMIM:194190
HP:0100491	Abnormality of lower limb joint	64374	SIL1	ORPHA:559
HP:0100491	Abnormality of lower limb joint	51763	INPP5K	ORPHA:559
HP:0100491	Abnormality of lower limb joint	9487	PIGL	ORPHA:3474
HP:0100491	Abnormality of lower limb joint	55644	OSGEP	OMIM:617729
HP:0100491	Abnormality of lower limb joint	2697	GJA1	OMIM:164200
HP:0100491	Abnormality of lower limb joint	2313	FLI1	ORPHA:2308
HP:0100491	Abnormality of lower limb joint	23476	BRD4	ORPHA:199
HP:0100491	Abnormality of lower limb joint	9126	SMC3	ORPHA:199
HP:0100491	Abnormality of lower limb joint	8243	SMC1A	ORPHA:199
HP:0100491	Abnormality of lower limb joint	8243	SMC1A	ORPHA:220386
HP:0100491	Abnormality of lower limb joint	25836	NIPBL	ORPHA:199
HP:0100491	Abnormality of lower limb joint	55869	HDAC8	ORPHA:199
HP:0100491	Abnormality of lower limb joint	5885	RAD21	ORPHA:199
HP:0100491	Abnormality of lower limb joint	3835	KIF22	ORPHA:93360
HP:0100491	Abnormality of lower limb joint	538	ATP7A	ORPHA:198
HP:0100491	Abnormality of lower limb joint	57003	CCDC47	OMIM:618268
HP:0100491	Abnormality of lower limb joint	85301	COL27A1	OMIM:615155
HP:0100491	Abnormality of lower limb joint	10526	IPO8	OMIM:619472
HP:0100491	Abnormality of lower limb joint	1857	DVL3	ORPHA:3107
HP:0100491	Abnormality of lower limb joint	7474	WNT5A	ORPHA:3107
HP:0100491	Abnormality of lower limb joint	1855	DVL1	ORPHA:3107
HP:0100491	Abnormality of lower limb joint	2535	FZD2	ORPHA:3107
HP:0100491	Abnormality of lower limb joint	1861	TOR1A	OMIM:618947
HP:0100491	Abnormality of lower limb joint	23233	EXOC6B	ORPHA:93359
HP:0100491	Abnormality of lower limb joint	23233	EXOC6B	OMIM:618395
HP:0100491	Abnormality of lower limb joint	3098	HK1	OMIM:618547
HP:0100491	Abnormality of lower limb joint	6608	SMO	OMIM:241800
HP:0100491	Abnormality of lower limb joint	81031	SLC2A10	ORPHA:3342
HP:0100491	Abnormality of lower limb joint	4796	TONSL	ORPHA:93357
HP:0100491	Abnormality of lower limb joint	145258	GSC	OMIM:602471
HP:0100491	Abnormality of lower limb joint	207	AKT1	ORPHA:744
HP:0100491	Abnormality of lower limb joint	6558	SLC12A2	OMIM:619083
HP:0100491	Abnormality of lower limb joint	4000	LMNA	ORPHA:740
HP:0100491	Abnormality of lower limb joint	10269	ZMPSTE24	ORPHA:740
HP:0100491	Abnormality of lower limb joint	78989	COLEC11	OMIM:265050
HP:0100491	Abnormality of lower limb joint	78989	COLEC11	ORPHA:293843
HP:0100491	Abnormality of lower limb joint	3251	HPRT1	OMIM:300322
HP:0100491	Abnormality of lower limb joint	51360	MBTPS2	OMIM:308205
HP:0100491	Abnormality of lower limb joint	8239	USP9X	OMIM:300968
HP:0100491	Abnormality of lower limb joint	7140	TNNT3	OMIM:618435
HP:0100491	Abnormality of lower limb joint	113246	C12orf57	OMIM:218340
HP:0100491	Abnormality of lower limb joint	7030	TFE3	OMIM:301066
HP:0100491	Abnormality of lower limb joint	51651	PTRH2	OMIM:616263
HP:0100491	Abnormality of lower limb joint	30008	EFEMP2	ORPHA:90349
HP:0100491	Abnormality of lower limb joint	284058	KANSL1	OMIM:610443
HP:0100491	Abnormality of lower limb joint	92344	GORAB	ORPHA:2078
HP:0100491	Abnormality of lower limb joint	10584	COLEC10	ORPHA:293843
HP:0100491	Abnormality of lower limb joint	5648	MASP1	ORPHA:293843
HP:0100491	Abnormality of lower limb joint	7476	WNT7A	OMIM:276820
HP:0100491	Abnormality of lower limb joint	9939	RBM8A	ORPHA:3320
HP:0100491	Abnormality of lower limb joint	9939	RBM8A	OMIM:274000
HP:0100491	Abnormality of lower limb joint	23299	BICD2	OMIM:618291
HP:0100491	Abnormality of lower limb joint	26229	B3GAT3	OMIM:245600
HP:0100491	Abnormality of lower limb joint	523	ATP6V1A	OMIM:617403
HP:0100491	Abnormality of lower limb joint	81603	TRIM8	OMIM:619428
HP:0100491	Abnormality of lower limb joint	3207	HOXA11	OMIM:605432
HP:0100491	Abnormality of lower limb joint	1497	CTNS	OMIM:219800
HP:0100491	Abnormality of lower limb joint	875	CBS	ORPHA:394
HP:0100491	Abnormality of lower limb joint	7421	VDR	ORPHA:93160
HP:0100491	Abnormality of lower limb joint	2972	BRF1	OMIM:616202
HP:0100491	Abnormality of lower limb joint	7360	UGP2	OMIM:618744
HP:0100491	Abnormality of lower limb joint	10992	SF3B2	OMIM:164210
HP:0100491	Abnormality of lower limb joint	3021	H3-3B	OMIM:619721
HP:0100491	Abnormality of lower limb joint	23322	RPGRIP1L	OMIM:611560
HP:0100491	Abnormality of lower limb joint	176	ACAN	OMIM:608361
HP:0100491	Abnormality of lower limb joint	84572	GNPTG	OMIM:252605
HP:0100491	Abnormality of lower limb joint	7040	TGFB1	OMIM:131300
HP:0100491	Abnormality of lower limb joint	7040	TGFB1	ORPHA:1328
HP:0100491	Abnormality of lower limb joint	54880	BCOR	ORPHA:2712
HP:0100491	Abnormality of lower limb joint	815	CAMK2A	OMIM:617798
HP:0100491	Abnormality of lower limb joint	10381	TUBB3	ORPHA:300570
HP:0100491	Abnormality of lower limb joint	83480	PUS3	ORPHA:488627
HP:0100491	Abnormality of lower limb joint	157680	VPS13B	OMIM:216550
HP:0100491	Abnormality of lower limb joint	157680	VPS13B	ORPHA:193
HP:0100491	Abnormality of lower limb joint	5566	PRKACA	ORPHA:289
HP:0100491	Abnormality of lower limb joint	5566	PRKACA	OMIM:619142
HP:0100491	Abnormality of lower limb joint	2735	GLI1	ORPHA:289
HP:0100491	Abnormality of lower limb joint	2735	GLI1	OMIM:618123
HP:0100491	Abnormality of lower limb joint	2121	EVC	ORPHA:289
HP:0100491	Abnormality of lower limb joint	2121	EVC	OMIM:225500
HP:0100491	Abnormality of lower limb joint	51626	DYNC2LI1	ORPHA:289
HP:0100491	Abnormality of lower limb joint	132884	EVC2	ORPHA:289
HP:0100491	Abnormality of lower limb joint	132884	EVC2	OMIM:225500
HP:0100491	Abnormality of lower limb joint	9839	ZEB2	ORPHA:261552
HP:0100491	Abnormality of lower limb joint	9839	ZEB2	ORPHA:261537
HP:0100491	Abnormality of lower limb joint	4763	NF1	ORPHA:363700
HP:0100491	Abnormality of lower limb joint	4763	NF1	OMIM:162200
HP:0100491	Abnormality of lower limb joint	3425	IDUA	OMIM:607016
HP:0100491	Abnormality of lower limb joint	374654	KIF7	OMIM:607131
HP:0100491	Abnormality of lower limb joint	374654	KIF7	ORPHA:166024
HP:0100491	Abnormality of lower limb joint	5376	PMP22	ORPHA:3115
HP:0100491	Abnormality of lower limb joint	4359	MPZ	ORPHA:3115
HP:0100491	Abnormality of lower limb joint	1588	CYP19A1	ORPHA:91
HP:0100491	Abnormality of lower limb joint	5251	PHEX	ORPHA:89936
HP:0100491	Abnormality of lower limb joint	5251	PHEX	OMIM:307800
HP:0100491	Abnormality of lower limb joint	3043	HBB	ORPHA:231214
HP:0100491	Abnormality of lower limb joint	3043	HBB	ORPHA:231226
HP:0100491	Abnormality of lower limb joint	5593	PRKG2	OMIM:619636
HP:0100491	Abnormality of lower limb joint	55027	HEATR3	OMIM:620072
HP:0100491	Abnormality of lower limb joint	23162	MAPK8IP3	OMIM:618443
HP:0100491	Abnormality of lower limb joint	9394	HS6ST1	OMIM:614880
HP:0100491	Abnormality of lower limb joint	23483	TGDS	OMIM:616145
HP:0100491	Abnormality of lower limb joint	546	ATRX	OMIM:309580
HP:0100491	Abnormality of lower limb joint	7994	KAT6A	OMIM:616268
HP:0100491	Abnormality of lower limb joint	1186	CLCN7	ORPHA:53
HP:0100491	Abnormality of lower limb joint	84695	LOXL3	ORPHA:250984
HP:0100491	Abnormality of lower limb joint	55081	IFT57	OMIM:617927
HP:0100491	Abnormality of lower limb joint	865	CBFB	OMIM:620099
HP:0100491	Abnormality of lower limb joint	8600	TNFSF11	OMIM:259710
HP:0100491	Abnormality of lower limb joint	10466	COG5	ORPHA:263487
HP:0100491	Abnormality of lower limb joint	26160	IFT172	OMIM:615630
HP:0100491	Abnormality of lower limb joint	2335	FN1	ORPHA:93315
HP:0100491	Abnormality of lower limb joint	23394	ADNP	OMIM:615873
HP:0100491	Abnormality of lower limb joint	7681	MKRN3	OMIM:176270
HP:0100491	Abnormality of lower limb joint	3653	IPW	OMIM:176270
HP:0100491	Abnormality of lower limb joint	54551	MAGEL2	OMIM:176270
HP:0100491	Abnormality of lower limb joint	791114	PWRN1	OMIM:176270
HP:0100491	Abnormality of lower limb joint	100033413	SNORD116-1	OMIM:176270
HP:0100491	Abnormality of lower limb joint	8924	HERC2	OMIM:176270
HP:0100491	Abnormality of lower limb joint	145624	PWAR1	OMIM:176270
HP:0100491	Abnormality of lower limb joint	23742	NPAP1	OMIM:176270
HP:0100491	Abnormality of lower limb joint	338433	SNORD115-1	OMIM:176270
HP:0100491	Abnormality of lower limb joint	8882	ZPR1	OMIM:619321
HP:0100491	Abnormality of lower limb joint	137682	NDUFAF6	OMIM:618913
HP:0100491	Abnormality of lower limb joint	153642	ARSK	OMIM:619698
HP:0100491	Abnormality of lower limb joint	5604	MAP2K1	ORPHA:1340
HP:0100491	Abnormality of lower limb joint	5605	MAP2K2	ORPHA:1340
HP:0100491	Abnormality of lower limb joint	673	BRAF	ORPHA:1340
HP:0100491	Abnormality of lower limb joint	23111	SPART	ORPHA:101000
HP:0100491	Abnormality of lower limb joint	3930	LBR	OMIM:618019
HP:0100491	Abnormality of lower limb joint	1954	MEGF8	ORPHA:65759
HP:0100491	Abnormality of lower limb joint	1300	COL10A1	OMIM:156500
HP:0100491	Abnormality of lower limb joint	6424	SFRP4	OMIM:265900
HP:0100491	Abnormality of lower limb joint	6711	SPTBN1	OMIM:619475
HP:0100491	Abnormality of lower limb joint	2588	GALNS	OMIM:253000
HP:0100491	Abnormality of lower limb joint	80152	CENPT	OMIM:618702
HP:0100491	Abnormality of lower limb joint	5184	PEPD	ORPHA:742
HP:0100491	Abnormality of lower limb joint	7227	TRPS1	ORPHA:502
HP:0100491	Abnormality of lower limb joint	374879	ZNF699	OMIM:619488
HP:0100491	Abnormality of lower limb joint	10651	MTX2	OMIM:619127
HP:0100491	Abnormality of lower limb joint	8139	GAN	ORPHA:643
HP:0100491	Abnormality of lower limb joint	80169	CTC1	OMIM:612199
HP:0100491	Abnormality of lower limb joint	25871	NEPRO	OMIM:618853
HP:0100491	Abnormality of lower limb joint	871	SERPINH1	OMIM:613848
HP:0100491	Abnormality of lower limb joint	1576	CYP3A4	OMIM:619073
HP:0100491	Abnormality of lower limb joint	65992	DDRGK1	OMIM:602557
HP:0100491	Abnormality of lower limb joint	65992	DDRGK1	ORPHA:93352
HP:0100491	Abnormality of lower limb joint	11128	POLR3A	OMIM:264090
HP:0100491	Abnormality of lower limb joint	79631	EFL1	OMIM:617941
HP:0100491	Abnormality of lower limb joint	284403	WDR62	OMIM:604317
HP:0100491	Abnormality of lower limb joint	4318	MMP9	OMIM:613073
HP:0100491	Abnormality of lower limb joint	3549	IHH	ORPHA:63446
HP:0100491	Abnormality of lower limb joint	3549	IHH	OMIM:607778
HP:0100491	Abnormality of lower limb joint	1758	DMP1	ORPHA:289176
HP:0100491	Abnormality of lower limb joint	6137	RPL13	OMIM:618728
HP:0100491	Abnormality of lower limb joint	6578	SLCO2A1	ORPHA:2796
HP:0100491	Abnormality of lower limb joint	5442	POLRMT	OMIM:619743
HP:0100491	Abnormality of lower limb joint	375	ARF1	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	4131	MAP1B	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	23327	NEDD4L	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	160418	TMTC3	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	10564	ARFGEF2	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	55780	ERMARD	ORPHA:98892
HP:0100491	Abnormality of lower limb joint	50515	CHST11	OMIM:618167
HP:0100491	Abnormality of lower limb joint	1387	CREBBP	OMIM:180849
HP:0100491	Abnormality of lower limb joint	1387	CREBBP	ORPHA:353277
HP:0100491	Abnormality of lower limb joint	1387	CREBBP	ORPHA:353281
HP:0100491	Abnormality of lower limb joint	2033	EP300	OMIM:180849
HP:0100491	Abnormality of lower limb joint	2033	EP300	ORPHA:353284
HP:0100491	Abnormality of lower limb joint	23522	KAT6B	OMIM:606170
HP:0100491	Abnormality of lower limb joint	23522	KAT6B	OMIM:603736
HP:0100491	Abnormality of lower limb joint	7528	YY1	OMIM:617557
HP:0100491	Abnormality of lower limb joint	91461	PKDCC	OMIM:618821
HP:0100491	Abnormality of lower limb joint	6804	STX1A	ORPHA:904
HP:0100491	Abnormality of lower limb joint	7461	CLIP2	ORPHA:904
HP:0100491	Abnormality of lower limb joint	84277	DNAJC30	ORPHA:904
HP:0100491	Abnormality of lower limb joint	8468	FKBP6	ORPHA:904
HP:0100491	Abnormality of lower limb joint	5982	RFC2	ORPHA:904
HP:0100491	Abnormality of lower limb joint	2969	GTF2I	ORPHA:904
HP:0100491	Abnormality of lower limb joint	3984	LIMK1	ORPHA:904
HP:0100491	Abnormality of lower limb joint	9569	GTF2IRD1	ORPHA:904
HP:0100491	Abnormality of lower limb joint	155382	VPS37D	ORPHA:904
HP:0100491	Abnormality of lower limb joint	155368	METTL27	ORPHA:904
HP:0100491	Abnormality of lower limb joint	114049	BUD23	ORPHA:904
HP:0100491	Abnormality of lower limb joint	7458	EIF4H	ORPHA:904
HP:0100491	Abnormality of lower limb joint	84163	GTF2IRD2	ORPHA:904
HP:0100491	Abnormality of lower limb joint	9275	BCL7B	ORPHA:904
HP:0100491	Abnormality of lower limb joint	26608	TBL2	ORPHA:904
HP:0100491	Abnormality of lower limb joint	653361	NCF1	ORPHA:904
HP:0100491	Abnormality of lower limb joint	135886	TMEM270	ORPHA:904
HP:0100491	Abnormality of lower limb joint	51085	MLXIPL	ORPHA:904
HP:0100491	Abnormality of lower limb joint	9031	BAZ1B	ORPHA:904
HP:0100491	Abnormality of lower limb joint	1312	COMT	ORPHA:567
HP:0100491	Abnormality of lower limb joint	221037	JMJD1C	ORPHA:567
HP:0100491	Abnormality of lower limb joint	2812	GP1BB	ORPHA:567
HP:0100491	Abnormality of lower limb joint	6239	RREB1	ORPHA:567
HP:0100491	Abnormality of lower limb joint	6899	TBX1	ORPHA:567
HP:0100491	Abnormality of lower limb joint	6899	TBX1	OMIM:188400
HP:0100491	Abnormality of lower limb joint	7290	HIRA	ORPHA:567
HP:0100491	Abnormality of lower limb joint	9632	SEC24C	ORPHA:567
HP:0100491	Abnormality of lower limb joint	7353	UFD1	ORPHA:567
HP:0100491	Abnormality of lower limb joint	421	ARVCF	ORPHA:567
HP:0100491	Abnormality of lower limb joint	54928	BPNT2	OMIM:614078
HP:0100491	Abnormality of lower limb joint	6812	STXBP1	ORPHA:495818
HP:0100491	Abnormality of lower limb joint	2201	FBN2	OMIM:121050
HP:0100491	Abnormality of lower limb joint	4853	NOTCH2	ORPHA:955
HP:0100491	Abnormality of lower limb joint	5718	PSMD12	ORPHA:529962
HP:0100491	Abnormality of lower limb joint	2186	BPTF	ORPHA:529962
HP:0100491	Abnormality of lower limb joint	120227	CYP2R1	OMIM:600081
HP:0100491	Abnormality of lower limb joint	120227	CYP2R1	ORPHA:289157
HP:0100491	Abnormality of lower limb joint	1594	CYP27B1	OMIM:264700
HP:0100491	Abnormality of lower limb joint	1594	CYP27B1	ORPHA:289157
HP:0100491	Abnormality of lower limb joint	1184	CLCN5	OMIM:300554
HP:0100491	Abnormality of lower limb joint	1184	CLCN5	OMIM:300009
HP:0100491	Abnormality of lower limb joint	4625	MYH7	ORPHA:437572
HP:0100491	Abnormality of lower limb joint	142680	SLC34A3	OMIM:241530
HP:0100491	Abnormality of lower limb joint	10804	GJB6	ORPHA:477
HP:0100491	Abnormality of lower limb joint	2706	GJB2	ORPHA:477
HP:0100491	Abnormality of lower limb joint	9401	RECQL4	ORPHA:221016
HP:0100491	Abnormality of lower limb joint	9401	RECQL4	OMIM:218600
HP:0100491	Abnormality of lower limb joint	57688	ZSWIM6	ORPHA:1827
HP:0100491	Abnormality of lower limb joint	57688	ZSWIM6	OMIM:603671
HP:0100491	Abnormality of lower limb joint	5307	PITX1	OMIM:119800
HP:0100491	Abnormality of lower limb joint	55148	UBR7	OMIM:619189
HP:0100491	Abnormality of lower limb joint	29980	DONSON	OMIM:617604
HP:0100491	Abnormality of lower limb joint	54496	PRMT7	ORPHA:464288
HP:0100491	Abnormality of lower limb joint	23594	ORC6	OMIM:613803
HP:0100491	Abnormality of lower limb joint	64682	ANAPC1	ORPHA:221008
HP:0100491	Abnormality of lower limb joint	10082	GPC6	OMIM:258315
HP:0100491	Abnormality of lower limb joint	2146	EZH2	OMIM:277590
HP:0100491	Abnormality of lower limb joint	2554	GABRA1	ORPHA:33069
HP:0100491	Abnormality of lower limb joint	57526	PCDH19	ORPHA:33069
HP:0100491	Abnormality of lower limb joint	54808	DYM	ORPHA:239
HP:0100491	Abnormality of lower limb joint	5745	PTH1R	ORPHA:79106
HP:0100491	Abnormality of lower limb joint	79848	CSPP1	ORPHA:397715
HP:0100491	Abnormality of lower limb joint	9786	KIAA0586	ORPHA:397715
HP:0100491	Abnormality of lower limb joint	91147	TMEM67	ORPHA:140976
HP:0100491	Abnormality of lower limb joint	3373	HYAL1	ORPHA:67041
HP:0100491	Abnormality of lower limb joint	60561	RINT1	OMIM:618641
HP:0100491	Abnormality of lower limb joint	59341	TRPV4	ORPHA:93314
HP:0100491	Abnormality of lower limb joint	4148	MATN3	ORPHA:93311
HP:0100491	Abnormality of lower limb joint	4088	SMAD3	ORPHA:284984
HP:0100491	Abnormality of lower limb joint	4088	SMAD3	OMIM:613795
HP:0100491	Abnormality of lower limb joint	5176	SERPINF1	OMIM:613982
HP:0100491	Abnormality of lower limb joint	10491	CRTAP	OMIM:610682
HP:0100491	Abnormality of lower limb joint	7048	TGFBR2	OMIM:610168
HP:0100491	Abnormality of lower limb joint	7042	TGFB2	OMIM:614816
HP:0100491	Abnormality of lower limb joint	3339	HSPG2	ORPHA:800
HP:0100491	Abnormality of lower limb joint	153241	CEP120	OMIM:616300
HP:0100491	Abnormality of lower limb joint	1108	CHD4	OMIM:617159
HP:0100491	Abnormality of lower limb joint	54187	NANS	OMIM:610442
HP:0100491	Abnormality of lower limb joint	57539	WDR35	OMIM:614091
HP:0100491	Abnormality of lower limb joint	3636	INPPL1	OMIM:258480
HP:0100491	Abnormality of lower limb joint	633	BGN	OMIM:300106
HP:0100491	Abnormality of lower limb joint	83452	RAB33B	OMIM:615222
HP:0100491	Abnormality of lower limb joint	51098	IFT52	OMIM:617102
HP:0100491	Abnormality of lower limb joint	51025	PAM16	OMIM:613320
HP:0100491	Abnormality of lower limb joint	23169	SLC35D1	OMIM:269250
HP:0100491	Abnormality of lower limb joint	2879	GPX4	OMIM:250220
HP:0100491	Abnormality of lower limb joint	55325	UFSP2	OMIM:142669
HP:0100491	Abnormality of lower limb joint	51715	RAB23	OMIM:201000
HP:0100491	Abnormality of lower limb joint	2623	GATA1	OMIM:190685
HP:0100491	Abnormality of lower limb joint	50485	SMARCAL1	ORPHA:1830
HP:0100491	Abnormality of lower limb joint	50485	SMARCAL1	OMIM:242900
HP:0100491	Abnormality of lower limb joint	9382	COG1	OMIM:611209
HP:0100491	Abnormality of lower limb joint	9653	HS2ST1	OMIM:619194
HP:0100491	Abnormality of lower limb joint	274	BIN1	ORPHA:169186
HP:0100491	Abnormality of lower limb joint	10290	SPEG	ORPHA:169186
HP:0100491	Abnormality of lower limb joint	10290	SPEG	OMIM:615959
HP:0100491	Abnormality of lower limb joint	7273	TTN	ORPHA:169186
HP:0100491	Abnormality of lower limb joint	4593	MUSK	OMIM:208150
HP:0100491	Abnormality of lower limb joint	29895	MYL11	OMIM:619110
HP:0100491	Abnormality of lower limb joint	9894	TELO2	ORPHA:488642
HP:0100491	Abnormality of lower limb joint	285175	UNC80	OMIM:616801
HP:0100491	Abnormality of lower limb joint	285175	UNC80	ORPHA:371364
HP:0100491	Abnormality of lower limb joint	84992	PIGY	OMIM:616809
HP:0100491	Abnormality of lower limb joint	2617	GARS1	OMIM:619042
HP:0100491	Abnormality of lower limb joint	26137	ZBTB20	OMIM:259050
HP:0100491	Abnormality of lower limb joint	26137	ZBTB20	ORPHA:3042
HP:0100491	Abnormality of lower limb joint	1161	ERCC8	OMIM:216400
HP:0100491	Abnormality of lower limb joint	84068	SLC10A7	OMIM:618363
HP:0100491	Abnormality of lower limb joint	2157	F8	ORPHA:169805
HP:0100491	Abnormality of lower limb joint	7138	TNNT1	ORPHA:98902
HP:0100491	Abnormality of lower limb joint	7138	TNNT1	OMIM:605355
HP:0100491	Abnormality of lower limb joint	54681	P4HTM	OMIM:618493
HP:0100491	Abnormality of lower limb joint	5277	PIGA	OMIM:300868
HP:0100491	Abnormality of lower limb joint	6023	RMRP	OMIM:607095
HP:0100491	Abnormality of lower limb joint	2783	GNB2	OMIM:619503
HP:0100491	Abnormality of lower limb joint	4632	MYL1	OMIM:618414
HP:0100491	Abnormality of lower limb joint	3911	LAMA5	OMIM:620076
HP:0100491	Abnormality of lower limb joint	411	ARSB	OMIM:253200
HP:0100491	Abnormality of lower limb joint	2131	EXT1	ORPHA:321
HP:0100491	Abnormality of lower limb joint	2132	EXT2	ORPHA:321
HP:0100491	Abnormality of lower limb joint	5119	CHMP1A	OMIM:614961
HP:0100491	Abnormality of lower limb joint	3187	HNRNPH1	OMIM:620083
HP:0100491	Abnormality of lower limb joint	4125	MAN2B1	ORPHA:309282
HP:0100491	Abnormality of lower limb joint	4841	NONO	ORPHA:466791
HP:0100491	Abnormality of lower limb joint	1788	DNMT3A	OMIM:615879
HP:0100491	Abnormality of lower limb joint	25782	RAB3GAP2	OMIM:212720
HP:0100491	Abnormality of lower limb joint	3977	LIFR	OMIM:601559
HP:0100491	Abnormality of lower limb joint	6335	SCN9A	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	112755	STX1B	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	2563	GABRD	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	6326	SCN2A	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	6323	SCN1A	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	6324	SCN1B	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	348980	HCN1	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	84059	ADGRV1	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	2566	GABRG2	ORPHA:36387
HP:0100491	Abnormality of lower limb joint	833	CARS1	OMIM:618891
HP:0100491	Abnormality of lower limb joint	79989	IFT56	OMIM:619534
HP:0100491	Abnormality of lower limb joint	347734	SLC35B2	OMIM:620269
HP:0100491	Abnormality of lower limb joint	10586	MAB21L2	OMIM:615877
HP:0100491	Abnormality of lower limb joint	63895	PIEZO2	OMIM:108145
HP:0100491	Abnormality of lower limb joint	5567	PRKACB	OMIM:619143
HP:0100491	Abnormality of lower limb joint	9499	MYOT	ORPHA:266
HP:0100491	Abnormality of lower limb joint	8291	DYSF	ORPHA:268
HP:0100491	Abnormality of lower limb joint	1301	COL11A1	OMIM:154780
HP:0100491	Abnormality of lower limb joint	6399	TRAPPC2	ORPHA:93284
HP:0100491	Abnormality of lower limb joint	4087	SMAD2	OMIM:619656
HP:0100491	Abnormality of lower limb joint	10216	PRG4	ORPHA:2848
HP:0100491	Abnormality of lower limb joint	4322	MMP13	ORPHA:93356
HP:0100491	Abnormality of lower limb joint	23345	SYNE1	ORPHA:319332
HP:0100491	Abnormality of lower limb joint	2737	GLI3	ORPHA:93322
HP:0100491	Abnormality of lower limb joint	5447	POR	ORPHA:95699
HP:0100491	Abnormality of lower limb joint	23141	ANKLE2	OMIM:616681
HP:0100491	Abnormality of lower limb joint	8506	CNTNAP1	OMIM:616286
HP:0100491	Abnormality of lower limb joint	1756	DMD	OMIM:310200
HP:0100491	Abnormality of lower limb joint	5352	PLOD2	OMIM:609220
HP:0100491	Abnormality of lower limb joint	91179	SCARF2	OMIM:600920
HP:0100491	Abnormality of lower limb joint	3714	JAG2	OMIM:619566
HP:0100491	Abnormality of lower limb joint	51506	UFC1	OMIM:618076
HP:0100491	Abnormality of lower limb joint	2673	GFPT1	ORPHA:353327
HP:0100491	Abnormality of lower limb joint	1798	DPAGT1	ORPHA:353327
HP:0100491	Abnormality of lower limb joint	85365	ALG2	ORPHA:353327
HP:0100491	Abnormality of lower limb joint	85365	ALG2	OMIM:616228
HP:0100491	Abnormality of lower limb joint	199857	ALG14	ORPHA:353327
HP:0100491	Abnormality of lower limb joint	23321	TRIM2	OMIM:615490
HP:0100491	Abnormality of lower limb joint	92255	LMBRD2	OMIM:619694
HP:0100491	Abnormality of lower limb joint	2010	EMD	OMIM:310300
HP:0100491	Abnormality of lower limb joint	79644	SRD5A3	OMIM:612713
HP:0100491	Abnormality of lower limb joint	9531	BAG3	OMIM:612954
HP:0100491	Abnormality of lower limb joint	2074	ERCC6	OMIM:214150
HP:0100491	Abnormality of lower limb joint	9051	PSTPIP1	OMIM:604416
HP:0100491	Abnormality of lower limb joint	9791	PTDSS1	OMIM:151050
HP:0100491	Abnormality of lower limb joint	10613	ERLIN1	ORPHA:401785
HP:0100491	Abnormality of lower limb joint	2222	FDFT1	OMIM:618156
HP:0100491	Abnormality of lower limb joint	1376	CPT2	OMIM:608836
HP:0100491	Abnormality of lower limb joint	5296	PIK3R2	OMIM:603387
HP:0100491	Abnormality of lower limb joint	23387	SIK3	OMIM:618162
HP:0100491	Abnormality of lower limb joint	339855	KY	ORPHA:496689
HP:0100491	Abnormality of lower limb joint	6389	SDHA	ORPHA:3208
HP:0100491	Abnormality of lower limb joint	6390	SDHB	ORPHA:3208
HP:0100491	Abnormality of lower limb joint	6392	SDHD	ORPHA:3208
HP:0100491	Abnormality of lower limb joint	644096	SDHAF1	ORPHA:3208
HP:0100491	Abnormality of lower limb joint	64116	SLC39A8	ORPHA:468699
HP:0100491	Abnormality of lower limb joint	91137	SLC25A46	OMIM:619303
HP:0100491	Abnormality of lower limb joint	1140	CHRNB1	OMIM:616313
HP:0100491	Abnormality of lower limb joint	8449	DHX16	OMIM:618733
HP:0100491	Abnormality of lower limb joint	2318	FLNC	ORPHA:63273
HP:0100491	Abnormality of lower limb joint	727857	BHLHA9	ORPHA:3329
HP:0100491	Abnormality of lower limb joint	5000	ORC4	ORPHA:2554
HP:0100491	Abnormality of lower limb joint	5000	ORC4	OMIM:613800
HP:0100491	Abnormality of lower limb joint	8318	CDC45	ORPHA:2554
HP:0100491	Abnormality of lower limb joint	990	CDC6	ORPHA:2554
HP:0100491	Abnormality of lower limb joint	990	CDC6	OMIM:613805
HP:0100491	Abnormality of lower limb joint	51053	GMNN	ORPHA:2554
HP:0100491	Abnormality of lower limb joint	51053	GMNN	OMIM:616835
HP:0100491	Abnormality of lower limb joint	6473	SHOX	ORPHA:240
HP:0100491	Abnormality of lower limb joint	29920	PYCR2	ORPHA:481152
HP:0100491	Abnormality of lower limb joint	1291	COL6A1	OMIM:254090
HP:0100491	Abnormality of lower limb joint	1292	COL6A2	OMIM:254090
HP:0100491	Abnormality of lower limb joint	1293	COL6A3	OMIM:254090
HP:0100491	Abnormality of lower limb joint	9927	MFN2	ORPHA:99947
HP:0100491	Abnormality of lower limb joint	11160	ERLIN2	ORPHA:280384
HP:0100491	Abnormality of lower limb joint	11160	ERLIN2	ORPHA:209951
HP:0100491	Abnormality of lower limb joint	25914	RTTN	ORPHA:468631
HP:0100491	Abnormality of lower limb joint	1859	DYRK1A	ORPHA:464311
HP:0100491	Abnormality of lower limb joint	64324	NSD1	ORPHA:821
HP:0100491	Abnormality of lower limb joint	29072	SETD2	ORPHA:821
HP:0100491	Abnormality of lower limb joint	10297	APC2	ORPHA:821
HP:0100491	Abnormality of lower limb joint	1605	DAG1	OMIM:613818
HP:0100491	Abnormality of lower limb joint	1605	DAG1	ORPHA:280333
HP:0100491	Abnormality of lower limb joint	6442	SGCA	OMIM:608099
HP:0100491	Abnormality of lower limb joint	6840	SVIL	OMIM:619040
HP:0100491	Abnormality of lower limb joint	825	CAPN3	ORPHA:267
HP:0100491	Abnormality of lower limb joint	6134	RPL10	ORPHA:435938
HP:0100491	Abnormality of lower limb joint	22978	NT5C2	ORPHA:320396
HP:0100491	Abnormality of lower limb joint	55958	KLHL9	ORPHA:399081
HP:0100491	Abnormality of lower limb joint	6261	RYR1	OMIM:117000
HP:0100491	Abnormality of lower limb joint	83636	C19orf12	OMIM:615043
HP:0100491	Abnormality of lower limb joint	84876	ORAI1	OMIM:615883
HP:0100491	Abnormality of lower limb joint	163175	LGI4	OMIM:617468
HP:0100491	Abnormality of lower limb joint	6509	SLC1A4	OMIM:616657
HP:0100491	Abnormality of lower limb joint	60681	FKBP10	OMIM:259450
HP:0100491	Abnormality of lower limb joint	4773	NFATC2	OMIM:620232
HP:0100491	Abnormality of lower limb joint	87178	PNPT1	ORPHA:319514
HP:0100491	Abnormality of lower limb joint	26092	TOR1AIP1	OMIM:617072
HP:0100491	Abnormality of lower limb joint	8813	DPM1	OMIM:608799
HP:0100491	Abnormality of lower limb joint	210	ALAD	ORPHA:100924
HP:0100491	Abnormality of lower limb joint	513	ATP5F1D	OMIM:618120
HP:0100491	Abnormality of lower limb joint	7317	UBA1	ORPHA:1145
HP:0100491	Abnormality of lower limb joint	80208	SPG11	OMIM:616668
HP:0100491	Abnormality of lower limb joint	57731	SPTBN4	OMIM:617519
HP:0100491	Abnormality of lower limb joint	4313	MMP2	OMIM:259600
HP:0100491	Abnormality of lower limb joint	157570	ESCO2	OMIM:268300
HP:0100491	Abnormality of lower limb joint	29968	PSAT1	ORPHA:284417
HP:0100491	Abnormality of lower limb joint	57190	SELENON	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	4633	MYL2	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	3679	ITGA7	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	9200	HACD1	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	7170	TPM3	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	51776	MAP3K20	ORPHA:2020
HP:0100491	Abnormality of lower limb joint	51776	MAP3K20	OMIM:617760
HP:0100491	Abnormality of lower limb joint	5297	PI4KA	OMIM:619621
HP:0100491	Abnormality of lower limb joint	497661	C18orf32	OMIM:619985
HP:0100491	Abnormality of lower limb joint	127833	SYT2	OMIM:619461
HP:0100491	Abnormality of lower limb joint	4921	DDR2	OMIM:618175
HP:0100491	Abnormality of lower limb joint	7407	VARS1	OMIM:617802
HP:0100491	Abnormality of lower limb joint	57492	ARID1B	OMIM:135900
HP:0100491	Abnormality of lower limb joint	2316	FLNA	OMIM:305620
HP:0100491	Abnormality of lower limb joint	65055	REEP1	OMIM:620011
HP:0100491	Abnormality of lower limb joint	2263	FGFR2	OMIM:123150
HP:0100491	Abnormality of lower limb joint	22856	CHSY1	ORPHA:363417
HP:0100491	Abnormality of lower limb joint	22856	CHSY1	OMIM:605282
HP:0100491	Abnormality of lower limb joint	392255	GDF6	OMIM:617898
HP:0100491	Abnormality of lower limb joint	64327	LMBR1	ORPHA:2378
HP:0100491	Abnormality of lower limb joint	658	BMPR1B	ORPHA:2098
HP:0100491	Abnormality of lower limb joint	658	BMPR1B	ORPHA:2639
HP:0100491	Abnormality of lower limb joint	658	BMPR1B	OMIM:609441
HP:0100491	Abnormality of lower limb joint	9241	NOG	ORPHA:3250
HP:0100491	Abnormality of lower limb joint	9241	NOG	OMIM:186570
HP:0100491	Abnormality of lower limb joint	9241	NOG	OMIM:611377
HP:0100491	Abnormality of lower limb joint	9241	NOG	OMIM:186500
HP:0100491	Abnormality of lower limb joint	9241	NOG	ORPHA:1412
HP:0100491	Abnormality of lower limb joint	9241	NOG	OMIM:185800
HP:0100491	Abnormality of lower limb joint	259232	NALCN	ORPHA:1147
HP:0100491	Abnormality of lower limb joint	7136	TNNI2	ORPHA:1147
HP:0100491	Abnormality of lower limb joint	8195	MKKS	ORPHA:2473
HP:0100491	Abnormality of lower limb joint	8481	OFD1	ORPHA:2750
HP:0100491	Abnormality of lower limb joint	6885	MAP3K7	OMIM:157800
HP:0100491	Abnormality of lower limb joint	2192	FBLN1	OMIM:608180
HP:0100491	Abnormality of lower limb joint	57477	SHROOM4	ORPHA:85288
HP:0100491	Abnormality of lower limb joint	8218	CLTCL1	ORPHA:453510
HP:0100491	Abnormality of lower limb joint	1311	COMP	ORPHA:750
HP:0100491	Abnormality of lower limb joint	2137	EXTL3	ORPHA:508533
HP:0100491	Abnormality of lower limb joint	1146	CHRNG	OMIM:265000
HP:0100491	Abnormality of lower limb joint	10717	AP4B1	ORPHA:280763
HP:0100491	Abnormality of lower limb joint	10717	AP4B1	OMIM:614066
HP:0100491	Abnormality of lower limb joint	9179	AP4M1	ORPHA:280763
HP:0100491	Abnormality of lower limb joint	11154	AP4S1	ORPHA:280763
HP:0100491	Abnormality of lower limb joint	23431	AP4E1	ORPHA:280763
HP:0100491	Abnormality of lower limb joint	126792	B3GALT6	ORPHA:536467
HP:0100491	Abnormality of lower limb joint	29928	TIMM22	OMIM:618851
HP:0100491	Abnormality of lower limb joint	6210	RPS15A	OMIM:618313
HP:0100491	Abnormality of lower limb joint	9775	EIF4A3	OMIM:268305
HP:0100491	Abnormality of lower limb joint	25885	POLR1A	OMIM:616462
HP:0100491	Abnormality of lower limb joint	1836	SLC26A2	ORPHA:93307
HP:0100491	Abnormality of lower limb joint	2990	GUSB	OMIM:253220
HP:0100491	Abnormality of lower limb joint	23443	SLC35A3	OMIM:615553
HP:0100491	Abnormality of lower limb joint	65082	VPS33A	OMIM:617303
HP:0100491	Abnormality of lower limb joint	84700	MYO18B	OMIM:616549
HP:0100491	Abnormality of lower limb joint	55681	SCYL2	ORPHA:1143
HP:0100491	Abnormality of lower limb joint	84570	COL25A1	ORPHA:1143
HP:0100491	Abnormality of lower limb joint	57222	ERGIC1	ORPHA:1143
HP:0100491	Abnormality of lower limb joint	4897	NRCAM	OMIM:619833
HP:0100491	Abnormality of lower limb joint	2720	GLB1	ORPHA:79255
HP:0100491	Abnormality of lower limb joint	8546	AP3B1	OMIM:608233
HP:0100491	Abnormality of lower limb joint	57728	WDR19	OMIM:614376
HP:0100491	Abnormality of lower limb joint	79659	DYNC2H1	OMIM:613091
HP:0100491	Abnormality of lower limb joint	55112	DYNC2I1	OMIM:615503
HP:0100491	Abnormality of lower limb joint	255758	DYNLT2B	OMIM:617405
HP:0100491	Abnormality of lower limb joint	55835	CENPJ	OMIM:613676
HP:0100491	Abnormality of lower limb joint	51256	TBC1D7	OMIM:248000
HP:0100491	Abnormality of lower limb joint	5159	PDGFRB	OMIM:601812
HP:0100491	Abnormality of lower limb joint	649	BMP1	OMIM:614856
HP:0100491	Abnormality of lower limb joint	3081	HGD	OMIM:203500
HP:0100491	Abnormality of lower limb joint	7337	UBE3A	ORPHA:98794
HP:0100491	Abnormality of lower limb joint	4948	OCA2	ORPHA:98794
HP:0100491	Abnormality of lower limb joint	123606	NIPA1	ORPHA:100988
HP:0100491	Abnormality of lower limb joint	85465	SELENOI	ORPHA:506353
HP:0100491	Abnormality of lower limb joint	85465	SELENOI	OMIM:618768
HP:0100491	Abnormality of lower limb joint	51062	ATL1	ORPHA:100984
HP:0100491	Abnormality of lower limb joint	4728	NDUFS8	OMIM:618222
HP:0100491	Abnormality of lower limb joint	56006	SMG9	OMIM:619995
HP:0100491	Abnormality of lower limb joint	10159	ATP6AP2	ORPHA:363654
HP:0100491	Abnormality of lower limb joint	6683	SPAST	ORPHA:100985
HP:0100491	Abnormality of lower limb joint	51604	PIGT	OMIM:615398
HP:0100491	Abnormality of lower limb joint	9420	CYP7B1	ORPHA:100986
HP:0100491	Abnormality of lower limb joint	23516	SLC39A14	OMIM:617013
HP:0100491	Abnormality of lower limb joint	23516	SLC39A14	ORPHA:521406
HP:0100491	Abnormality of lower limb joint	22931	RAB18	OMIM:614222
HP:0100491	Abnormality of lower limb joint	1593	CYP27A1	OMIM:213700
HP:0100491	Abnormality of lower limb joint	3839	KPNA3	OMIM:620106
HP:0100491	Abnormality of lower limb joint	959	CD40LG	OMIM:308230
HP:0100491	Abnormality of lower limb joint	64837	KLC2	OMIM:609541
HP:0100491	Abnormality of lower limb joint	2258	FGF13	OMIM:301058
HP:0100491	Abnormality of lower limb joint	440193	CCDC88C	OMIM:616053
HP:0100491	Abnormality of lower limb joint	6647	SOD1	OMIM:618598
HP:0100491	Abnormality of lower limb joint	6253	RTN2	OMIM:604805
HP:0100491	Abnormality of lower limb joint	84340	GFM2	OMIM:618397
HP:0100491	Abnormality of lower limb joint	84340	GFM2	ORPHA:565624
HP:0100491	Abnormality of lower limb joint	79152	FA2H	ORPHA:171629
HP:0100491	Abnormality of lower limb joint	79152	FA2H	OMIM:612319
HP:0100491	Abnormality of lower limb joint	10273	STUB1	OMIM:615768
HP:0100491	Abnormality of lower limb joint	10273	STUB1	ORPHA:412057
HP:0100491	Abnormality of lower limb joint	9409	PEX16	OMIM:614877
HP:0100491	Abnormality of lower limb joint	9338	TCEAL1	OMIM:301094
HP:0100491	Abnormality of lower limb joint	5456	POU3F4	ORPHA:1435
HP:0100491	Abnormality of lower limb joint	55129	ANO10	ORPHA:284289
HP:0100491	Abnormality of lower limb joint	219285	SAMD9L	OMIM:159550
HP:0100491	Abnormality of lower limb joint	9289	ADGRG1	OMIM:606854
HP:0100491	Abnormality of lower limb joint	7345	UCHL1	OMIM:615491
HP:0100491	Abnormality of lower limb joint	215	ABCD1	ORPHA:139396
HP:0100491	Abnormality of lower limb joint	3064	HTT	OMIM:617435
HP:0100491	Abnormality of lower limb joint	118813	ZFYVE27	OMIM:610244
HP:0100491	Abnormality of lower limb joint	7415	VCP	OMIM:613954
HP:0100491	Abnormality of lower limb joint	57704	GBA2	OMIM:614409
HP:0100491	Abnormality of lower limb joint	2581	GALC	ORPHA:206436
HP:0100491	Abnormality of lower limb joint	5660	PSAP	ORPHA:206436
HP:0100491	Abnormality of lower limb joint	1678	TIMM8A	ORPHA:52368
HP:0100491	Abnormality of lower limb joint	6567	SLC16A2	ORPHA:59
HP:0100491	Abnormality of lower limb joint	6712	SPTBN2	OMIM:600224
HP:0100491	Abnormality of lower limb joint	3798	KIF5A	ORPHA:100991
HP:0100491	Abnormality of lower limb joint	3798	KIF5A	OMIM:604187
HP:0100491	Abnormality of lower limb joint	823	CAPN1	ORPHA:488594
HP:0100491	Abnormality of lower limb joint	10749	KIF1C	OMIM:611302
HP:0100491	Abnormality of lower limb joint	8398	PLA2G6	OMIM:612953
HP:0100491	Abnormality of lower limb joint	113278	SLC52A3	OMIM:211530
HP:0100491	Abnormality of lower limb joint	57187	THOC2	OMIM:300957
HP:0100491	Abnormality of lower limb joint	7355	SLC35A2	ORPHA:356961
HP:0100491	Abnormality of lower limb joint	55628	ZNF407	OMIM:619557
HP:0100491	Abnormality of lower limb joint	51608	GET4	OMIM:620200
HP:0100491	Abnormality of lower limb joint	28962	OSTM1	OMIM:259720
HP:0100491	Abnormality of lower limb joint	27125	AFF4	ORPHA:444077
HP:0100491	Abnormality of lower limb joint	84823	LMNB2	OMIM:619180
HP:0100491	Abnormality of lower limb joint	51112	TRAPPC12	ORPHA:500144
HP:0100491	Abnormality of lower limb joint	29998	BICRA	OMIM:619325
HP:0100491	Abnormality of lower limb joint	79633	FAT4	OMIM:615546
HP:0100491	Abnormality of lower limb joint	9131	AIFM1	ORPHA:83629
HP:0100491	Abnormality of lower limb joint	375056	MIA3	OMIM:619269
HP:0100491	Abnormality of lower limb joint	3417	IDH1	ORPHA:99646
HP:0100491	Abnormality of lower limb joint	114548	NLRP3	OMIM:607115
HP:0100491	Abnormality of lower limb joint	26123	TCTN3	OMIM:614815
HP:0100491	Abnormality of lower limb joint	9851	KIAA0753	OMIM:619479
HP:0100491	Abnormality of lower limb joint	2261	FGFR3	ORPHA:85164
HP:0100491	Abnormality of lower limb joint	4914	NTRK1	ORPHA:642
HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	1281	COL3A1	OMIM:130050
HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	4000	LMNA	ORPHA:1662
HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	10269	ZMPSTE24	ORPHA:1662
HP:0005266	Intestinal polyp	6390	SDHB	ORPHA:201
HP:0005266	Intestinal polyp	6392	SDHD	ORPHA:201
HP:0005266	Intestinal polyp	6391	SDHC	ORPHA:201
HP:0005266	Intestinal polyp	207	AKT1	ORPHA:201
HP:0005266	Intestinal polyp	207	AKT1	OMIM:615109
HP:0005266	Intestinal polyp	205717	USF3	ORPHA:201
HP:0005266	Intestinal polyp	100144748	KLLN	ORPHA:201
HP:0005266	Intestinal polyp	6794	STK11	OMIM:175200
HP:0005266	Intestinal polyp	5727	PTCH1	OMIM:109400
HP:0005266	Intestinal polyp	8313	AXIN2	ORPHA:401911
HP:0005266	Intestinal polyp	8313	AXIN2	OMIM:608615
HP:0005266	Intestinal polyp	324	APC	ORPHA:261584
HP:0005266	Intestinal polyp	324	APC	ORPHA:99818
HP:0005266	Intestinal polyp	324	APC	OMIM:175100
HP:0005266	Intestinal polyp	324	APC	ORPHA:247806
HP:0005266	Intestinal polyp	324	APC	ORPHA:79665
HP:0005266	Intestinal polyp	54894	RNF43	ORPHA:157798
HP:0005266	Intestinal polyp	26585	GREM1	ORPHA:157794
HP:0005266	Intestinal polyp	657	BMPR1A	ORPHA:157794
HP:0005266	Intestinal polyp	657	BMPR1A	ORPHA:329971
HP:0005266	Intestinal polyp	657	BMPR1A	OMIM:610069
HP:0005266	Intestinal polyp	657	BMPR1A	ORPHA:79076
HP:0005266	Intestinal polyp	4913	NTHL1	ORPHA:454840
HP:0005266	Intestinal polyp	4913	NTHL1	OMIM:616415
HP:0005266	Intestinal polyp	4089	SMAD4	ORPHA:329971
HP:0005266	Intestinal polyp	2022	ENG	ORPHA:329971
HP:0005266	Intestinal polyp	8930	MBD4	OMIM:619975
HP:0005266	Intestinal polyp	4595	MUTYH	OMIM:608456
HP:0005266	Intestinal polyp	4595	MUTYH	ORPHA:247798
HP:0005266	Intestinal polyp	5426	POLE	ORPHA:447877
HP:0005266	Intestinal polyp	5424	POLD1	ORPHA:447877
HP:0005266	Intestinal polyp	4292	MLH1	OMIM:276300
HP:0005266	Intestinal polyp	5395	PMS2	OMIM:619101
HP:0005266	Intestinal polyp	4437	MSH3	OMIM:617100
HP:0005266	Intestinal polyp	4437	MSH3	ORPHA:480536
HP:0005266	Intestinal polyp	4072	EPCAM	OMIM:613244
HP:0005266	Intestinal polyp	5728	PTEN	ORPHA:79076
HP:0005266	Intestinal polyp	2475	MTOR	ORPHA:457485
HP:0005266	Intestinal polyp	201163	FLCN	OMIM:135150
HP:0005266	Intestinal polyp	27030	MLH3	ORPHA:144
HP:0005266	Intestinal polyp	22909	FAN1	ORPHA:144
HP:0005266	Intestinal polyp	7048	TGFBR2	ORPHA:144
HP:0005266	Intestinal polyp	3845	KRAS	ORPHA:144
HP:0005266	Intestinal polyp	5290	PIK3CA	ORPHA:144
HP:0005266	Intestinal polyp	2956	MSH6	ORPHA:144
HP:0005266	Intestinal polyp	5378	PMS1	ORPHA:144
HP:0005266	Intestinal polyp	4436	MSH2	ORPHA:144
HP:0005266	Intestinal polyp	2658	GDF2	ORPHA:774
HP:0005266	Intestinal polyp	94	ACVRL1	ORPHA:774
HP:0005266	Intestinal polyp	1499	CTNNB1	ORPHA:873
HP:0005266	Intestinal polyp	215	ABCD1	ORPHA:388
HP:0005266	Intestinal polyp	5979	RET	ORPHA:388
HP:0005266	Intestinal polyp	2668	GDNF	ORPHA:388
HP:0005266	Intestinal polyp	6608	SMO	ORPHA:388
HP:0005266	Intestinal polyp	1889	ECE1	ORPHA:388
HP:0005266	Intestinal polyp	6720	SREBF1	ORPHA:388
HP:0005266	Intestinal polyp	1908	EDN3	ORPHA:388
HP:0005266	Intestinal polyp	223117	SEMA3D	ORPHA:388
HP:0005266	Intestinal polyp	538	ATP7A	ORPHA:388
HP:0005266	Intestinal polyp	1910	EDNRB	ORPHA:388
HP:0005266	Intestinal polyp	10512	SEMA3C	ORPHA:388
HP:0005266	Intestinal polyp	2064	ERBB2	ORPHA:388
HP:0005266	Intestinal polyp	2065	ERBB3	ORPHA:388
HP:0005266	Intestinal polyp	4902	NRTN	ORPHA:388
HP:0005266	Intestinal polyp	9184	BUB3	ORPHA:1052
HP:0005266	Intestinal polyp	699	BUB1	ORPHA:1052
HP:0005266	Intestinal polyp	9702	CEP57	ORPHA:1052
HP:0005266	Intestinal polyp	9319	TRIP13	ORPHA:1052
HP:0005266	Intestinal polyp	701	BUB1B	ORPHA:1052
HP:0005266	Intestinal polyp	2778	GNAS	OMIM:174800
HP:0005266	Intestinal polyp	5156	PDGFRA	OMIM:175510
HP:0005266	Intestinal polyp	10483	SEC23B	OMIM:616858
HP:0005266	Intestinal polyp	9817	KEAP1	ORPHA:276399
HP:0005266	Intestinal polyp	23405	DICER1	ORPHA:276399
HP:0005266	Intestinal polyp	7157	TP53	ORPHA:524
HP:0005266	Intestinal polyp	1029	CDKN2A	ORPHA:524
HP:0005266	Intestinal polyp	4193	MDM2	ORPHA:524
HP:0005266	Intestinal polyp	11200	CHEK2	ORPHA:524
HP:0005265	Abnormal jejunum morphology	5297	PI4KA	ORPHA:436252
HP:0005265	Abnormal jejunum morphology	4613	MYCN	ORPHA:391641
HP:0005265	Abnormal jejunum morphology	4613	MYCN	OMIM:164280
HP:0005265	Abnormal jejunum morphology	374879	ZNF699	OMIM:619488
HP:0005265	Abnormal jejunum morphology	57217	TTC7A	OMIM:243150
HP:0005265	Abnormal jejunum morphology	222546	RFX6	OMIM:615710
HP:0005265	Abnormal jejunum morphology	4659	PPP1R12A	OMIM:618820
HP:0005265	Abnormal jejunum morphology	1063	CENPF	OMIM:243605
HP:0005265	Abnormal jejunum morphology	1174	AP1S1	OMIM:609313
HP:0005265	Abnormal jejunum morphology	407975	MIR17HG	ORPHA:391646
HP:0005265	Abnormal jejunum morphology	8604	SLC25A12	OMIM:612949
HP:0005264	Abnormality of the gallbladder	27183	VPS4A	OMIM:619273
HP:0005264	Abnormality of the gallbladder	2235	FECH	OMIM:177000
HP:0005264	Abnormality of the gallbladder	2235	FECH	ORPHA:79278
HP:0005264	Abnormality of the gallbladder	57003	CCDC47	OMIM:618268
HP:0005264	Abnormality of the gallbladder	212	ALAS2	OMIM:300752
HP:0005264	Abnormality of the gallbladder	1593	CYP27A1	ORPHA:909
HP:0005264	Abnormality of the gallbladder	1593	CYP27A1	OMIM:213700
HP:0005264	Abnormality of the gallbladder	7167	TPI1	OMIM:615512
HP:0005264	Abnormality of the gallbladder	6804	STX1A	ORPHA:904
HP:0005264	Abnormality of the gallbladder	7461	CLIP2	ORPHA:904
HP:0005264	Abnormality of the gallbladder	84277	DNAJC30	ORPHA:904
HP:0005264	Abnormality of the gallbladder	8468	FKBP6	ORPHA:904
HP:0005264	Abnormality of the gallbladder	5982	RFC2	ORPHA:904
HP:0005264	Abnormality of the gallbladder	2969	GTF2I	ORPHA:904
HP:0005264	Abnormality of the gallbladder	3984	LIMK1	ORPHA:904
HP:0005264	Abnormality of the gallbladder	9569	GTF2IRD1	ORPHA:904
HP:0005264	Abnormality of the gallbladder	155382	VPS37D	ORPHA:904
HP:0005264	Abnormality of the gallbladder	155368	METTL27	ORPHA:904
HP:0005264	Abnormality of the gallbladder	114049	BUD23	ORPHA:904
HP:0005264	Abnormality of the gallbladder	7458	EIF4H	ORPHA:904
HP:0005264	Abnormality of the gallbladder	84163	GTF2IRD2	ORPHA:904
HP:0005264	Abnormality of the gallbladder	9275	BCL7B	ORPHA:904
HP:0005264	Abnormality of the gallbladder	26608	TBL2	ORPHA:904
HP:0005264	Abnormality of the gallbladder	653361	NCF1	ORPHA:904
HP:0005264	Abnormality of the gallbladder	135886	TMEM270	ORPHA:904
HP:0005264	Abnormality of the gallbladder	51085	MLXIPL	ORPHA:904
HP:0005264	Abnormality of the gallbladder	9031	BAZ1B	ORPHA:904
HP:0005264	Abnormality of the gallbladder	2006	ELN	ORPHA:904
HP:0005264	Abnormality of the gallbladder	5205	ATP8B1	OMIM:211600
HP:0005264	Abnormality of the gallbladder	9780	PIEZO1	OMIM:194380
HP:0005264	Abnormality of the gallbladder	9780	PIEZO1	ORPHA:3202
HP:0005264	Abnormality of the gallbladder	5314	PKHD1	ORPHA:53035
HP:0005264	Abnormality of the gallbladder	286	ANK1	OMIM:182900
HP:0005264	Abnormality of the gallbladder	286	ANK1	ORPHA:822
HP:0005264	Abnormality of the gallbladder	2038	EPB42	ORPHA:822
HP:0005264	Abnormality of the gallbladder	6521	SLC4A1	ORPHA:822
HP:0005264	Abnormality of the gallbladder	6521	SLC4A1	ORPHA:3202
HP:0005264	Abnormality of the gallbladder	6710	SPTB	ORPHA:822
HP:0005264	Abnormality of the gallbladder	6710	SPTB	ORPHA:288
HP:0005264	Abnormality of the gallbladder	6708	SPTA1	ORPHA:822
HP:0005264	Abnormality of the gallbladder	6708	SPTA1	ORPHA:288
HP:0005264	Abnormality of the gallbladder	3043	HBB	ORPHA:231222
HP:0005264	Abnormality of the gallbladder	3043	HBB	OMIM:603903
HP:0005264	Abnormality of the gallbladder	6340	SCNN1G	ORPHA:171876
HP:0005264	Abnormality of the gallbladder	6337	SCNN1A	ORPHA:171876
HP:0005264	Abnormality of the gallbladder	6338	SCNN1B	ORPHA:171876
HP:0005264	Abnormality of the gallbladder	5244	ABCB4	ORPHA:69663
HP:0005264	Abnormality of the gallbladder	5244	ABCB4	OMIM:600803
HP:0005264	Abnormality of the gallbladder	2642	GCGR	ORPHA:438274
HP:0005264	Abnormality of the gallbladder	10483	SEC23B	OMIM:224100
HP:0005264	Abnormality of the gallbladder	3098	HK1	OMIM:235700
HP:0005264	Abnormality of the gallbladder	644	BLVRA	OMIM:614156
HP:0005264	Abnormality of the gallbladder	226	ALDOA	OMIM:611881
HP:0005264	Abnormality of the gallbladder	23600	AMACR	ORPHA:79095
HP:0005264	Abnormality of the gallbladder	1760	DMPK	OMIM:160900
HP:0005264	Abnormality of the gallbladder	2658	GDF2	ORPHA:774
HP:0005264	Abnormality of the gallbladder	94	ACVRL1	ORPHA:774
HP:0005264	Abnormality of the gallbladder	4089	SMAD4	ORPHA:774
HP:0005264	Abnormality of the gallbladder	2022	ENG	ORPHA:774
HP:0005264	Abnormality of the gallbladder	7030	TFE3	OMIM:301066
HP:0005264	Abnormality of the gallbladder	6609	SMPD1	ORPHA:77293
HP:0005264	Abnormality of the gallbladder	8242	KDM5C	OMIM:300534
HP:0005264	Abnormality of the gallbladder	7390	UROS	OMIM:263700
HP:0005264	Abnormality of the gallbladder	2859	GPR35	ORPHA:171
HP:0005264	Abnormality of the gallbladder	10507	SEMA4D	ORPHA:171
HP:0005264	Abnormality of the gallbladder	4485	MST1	ORPHA:171
HP:0005264	Abnormality of the gallbladder	6925	TCF4	ORPHA:171
HP:0005264	Abnormality of the gallbladder	326	AIRE	OMIM:240300
HP:0005264	Abnormality of the gallbladder	2629	GBA1	ORPHA:2072
HP:0005264	Abnormality of the gallbladder	2821	GPI	OMIM:613470
HP:0005264	Abnormality of the gallbladder	5213	PFKM	OMIM:232800
HP:0005264	Abnormality of the gallbladder	81857	MED25	ORPHA:464738
HP:0005264	Abnormality of the gallbladder	5824	PEX19	OMIM:614886
HP:0005264	Abnormality of the gallbladder	10020	GNE	ORPHA:3166
HP:0005264	Abnormality of the gallbladder	1312	COMT	ORPHA:567
HP:0005264	Abnormality of the gallbladder	221037	JMJD1C	ORPHA:567
HP:0005264	Abnormality of the gallbladder	2812	GP1BB	ORPHA:567
HP:0005264	Abnormality of the gallbladder	6239	RREB1	ORPHA:567
HP:0005264	Abnormality of the gallbladder	6899	TBX1	ORPHA:567
HP:0005264	Abnormality of the gallbladder	6899	TBX1	OMIM:188400
HP:0005264	Abnormality of the gallbladder	7290	HIRA	ORPHA:567
HP:0005264	Abnormality of the gallbladder	9632	SEC24C	ORPHA:567
HP:0005264	Abnormality of the gallbladder	7353	UFD1	ORPHA:567
HP:0005264	Abnormality of the gallbladder	421	ARVCF	ORPHA:567
HP:0005264	Abnormality of the gallbladder	3783	KCNN4	ORPHA:3202
HP:0005264	Abnormality of the gallbladder	2035	EPB41	ORPHA:288
HP:0005264	Abnormality of the gallbladder	2995	GYPC	ORPHA:288
HP:0005264	Abnormality of the gallbladder	5313	PKLR	OMIM:266200
HP:0005264	Abnormality of the gallbladder	171023	ASXL1	ORPHA:97297
HP:0005264	Abnormality of the gallbladder	8647	ABCB11	OMIM:605479
HP:0005264	Abnormality of the gallbladder	7386	UQCRFS1	OMIM:618775
HP:0005264	Abnormality of the gallbladder	64241	ABCG8	OMIM:611465
HP:0005264	Abnormality of the gallbladder	410	ARSA	ORPHA:309271
HP:0005264	Abnormality of the gallbladder	410	ARSA	ORPHA:309256
HP:0005264	Abnormality of the gallbladder	410	ARSA	ORPHA:309263
HP:0005264	Abnormality of the gallbladder	410	ARSA	OMIM:250100
HP:0005264	Abnormality of the gallbladder	5660	PSAP	ORPHA:309271
HP:0005264	Abnormality of the gallbladder	5660	PSAP	ORPHA:309256
HP:0005264	Abnormality of the gallbladder	5660	PSAP	ORPHA:309263
HP:0005264	Abnormality of the gallbladder	811	CALR	ORPHA:131
HP:0005264	Abnormality of the gallbladder	3717	JAK2	ORPHA:131
HP:0005264	Abnormality of the gallbladder	2153	F5	ORPHA:131
HP:0005264	Abnormality of the gallbladder	57104	PNPLA2	ORPHA:98908
HP:0005264	Abnormality of the gallbladder	3514	IGKC	ORPHA:183675
HP:0005264	Abnormality of the gallbladder	3501	IGHG2	ORPHA:183675
HP:0005264	Abnormality of the gallbladder	9971	NR1H4	ORPHA:69665
HP:0005264	Abnormality of the gallbladder	4204	MECP2	ORPHA:778
HP:0005264	Abnormality of the gallbladder	6794	STK11	ORPHA:2869
HP:0005264	Abnormality of the gallbladder	1717	DHCR7	ORPHA:818
HP:0005264	Abnormality of the gallbladder	10815	CPLX1	ORPHA:280
HP:0005264	Abnormality of the gallbladder	54872	PIGG	ORPHA:280
HP:0005264	Abnormality of the gallbladder	7469	NELFA	ORPHA:280
HP:0005264	Abnormality of the gallbladder	1487	CTBP1	ORPHA:280
HP:0005264	Abnormality of the gallbladder	3954	LETM1	ORPHA:280
HP:0005264	Abnormality of the gallbladder	7468	NSD2	ORPHA:280
HP:0005264	Abnormality of the gallbladder	2517	FUCA1	ORPHA:349
HP:0005264	Abnormality of the gallbladder	3239	HOXD13	ORPHA:887
HP:0005264	Abnormality of the gallbladder	145173	B3GLCT	OMIM:261540
HP:0005264	Abnormality of the gallbladder	6309	SC5D	OMIM:607330
HP:0005264	Abnormality of the gallbladder	2627	GATA6	OMIM:600001
HP:0005264	Abnormality of the gallbladder	2294	FOXF1	ORPHA:210122
HP:0005264	Abnormality of the gallbladder	23019	CNOT1	ORPHA:556955
HP:0005264	Abnormality of the gallbladder	23019	CNOT1	OMIM:618500
HP:0005264	Abnormality of the gallbladder	6651	SON	OMIM:617140
HP:0005264	Abnormality of the gallbladder	6651	SON	ORPHA:500150
HP:0005264	Abnormality of the gallbladder	57545	CC2D2A	OMIM:612284
HP:0005264	Abnormality of the gallbladder	222546	RFX6	OMIM:615710
HP:0005264	Abnormality of the gallbladder	27152	INTU	OMIM:617925
HP:0005264	Abnormality of the gallbladder	1581	CYP7A1	ORPHA:209902
HP:0005263	Gastritis	4790	NFKB1	OMIM:616576
HP:0005263	Gastritis	64135	IFIH1	OMIM:615846
HP:0005263	Gastritis	987	LRBA	OMIM:614700
HP:0005263	Gastritis	326	AIRE	OMIM:240300
HP:0005263	Gastritis	50619	DEF6	OMIM:619573
HP:0005263	Gastritis	1493	CTLA4	OMIM:616100
HP:0005263	Gastritis	999	CDH1	OMIM:137215
HP:0005263	Gastritis	2000	ELF4	OMIM:301074
HP:0005263	Gastritis	10526	IPO8	OMIM:619472
HP:0005263	Gastritis	3514	IGKC	ORPHA:183675
HP:0005263	Gastritis	3501	IGHG2	ORPHA:183675
HP:0005263	Gastritis	54914	FOCAD	OMIM:619991
HP:0005263	Gastritis	9652	SKIC3	ORPHA:84064
HP:0005263	Gastritis	6499	SKIC2	ORPHA:84064
HP:0005263	Gastritis	6850	SYK	OMIM:619381
HP:0005263	Gastritis	50943	FOXP3	ORPHA:37042
HP:0005263	Gastritis	355	FAS	ORPHA:3261
HP:0005263	Gastritis	356	FASLG	ORPHA:3261
HP:0005263	Gastritis	5580	PRKCD	ORPHA:3261
HP:0005263	Gastritis	843	CASP10	ORPHA:3261
HP:0005263	Gastritis	10125	RASGRP1	ORPHA:3261
HP:0005263	Gastritis	8737	RIPK1	OMIM:618108
HP:0005263	Gastritis	22900	CARD8	OMIM:619079
HP:0005262	Abnormality of the synovia	9361	LONP1	OMIM:600373
HP:0005262	Abnormality of the synovia	9361	LONP1	ORPHA:1458
HP:0005262	Abnormality of the synovia	6261	RYR1	ORPHA:597
HP:0005262	Abnormality of the synovia	6261	RYR1	OMIM:117000
HP:0005262	Abnormality of the synovia	64840	PORCN	OMIM:305600
HP:0005262	Abnormality of the synovia	6628	SNRPB	OMIM:117650
HP:0005262	Abnormality of the synovia	9759	HDAC4	OMIM:619797
HP:0005262	Abnormality of the synovia	5351	PLOD1	OMIM:225400
HP:0005262	Abnormality of the synovia	134218	DNAJC21	OMIM:617052
HP:0005262	Abnormality of the synovia	1182	CLCN3	OMIM:619512
HP:0005262	Abnormality of the synovia	63895	PIEZO2	OMIM:114300
HP:0005262	Abnormality of the synovia	2138	EYA1	OMIM:113650
HP:0005262	Abnormality of the synovia	6495	SIX1	OMIM:113650
HP:0005262	Abnormality of the synovia	84627	ZNF469	OMIM:229200
HP:0005262	Abnormality of the synovia	55699	IARS2	OMIM:616007
HP:0005262	Abnormality of the synovia	5048	PAFAH1B1	ORPHA:217385
HP:0005262	Abnormality of the synovia	7531	YWHAE	ORPHA:217385
HP:0005262	Abnormality of the synovia	6885	MAP3K7	OMIM:617137
HP:0005262	Abnormality of the synovia	9820	CUL7	ORPHA:2616
HP:0005262	Abnormality of the synovia	23363	OBSL1	ORPHA:2616
HP:0005262	Abnormality of the synovia	83987	CCDC8	ORPHA:2616
HP:0005262	Abnormality of the synovia	8239	USP9X	ORPHA:480880
HP:0005262	Abnormality of the synovia	8195	MKKS	OMIM:236700
HP:0005262	Abnormality of the synovia	1131	CHRM3	ORPHA:2970
HP:0005262	Abnormality of the synovia	1131	CHRM3	OMIM:100100
HP:0005262	Abnormality of the synovia	10060	ABCC9	OMIM:619719
HP:0005262	Abnormality of the synovia	23545	ATP6V0A2	OMIM:219200
HP:0005262	Abnormality of the synovia	23545	ATP6V0A2	ORPHA:357074
HP:0005262	Abnormality of the synovia	23545	ATP6V0A2	ORPHA:2834
HP:0005262	Abnormality of the synovia	23545	ATP6V0A2	OMIM:278250
HP:0005262	Abnormality of the synovia	9401	RECQL4	OMIM:268400
HP:0005262	Abnormality of the synovia	89910	UBE3B	OMIM:244450
HP:0005262	Abnormality of the synovia	1723	DHODH	OMIM:263750
HP:0005262	Abnormality of the synovia	60482	SLC5A7	ORPHA:98914
HP:0005262	Abnormality of the synovia	4649	MYO9A	ORPHA:98914
HP:0005262	Abnormality of the synovia	1305	COL13A1	ORPHA:98914
HP:0005262	Abnormality of the synovia	1103	CHAT	ORPHA:98914
HP:0005262	Abnormality of the synovia	6576	SLC25A1	ORPHA:98914
HP:0005262	Abnormality of the synovia	6843	VAMP1	ORPHA:98914
HP:0005262	Abnormality of the synovia	375790	AGRN	ORPHA:98914
HP:0005262	Abnormality of the synovia	127833	SYT2	ORPHA:98914
HP:0005262	Abnormality of the synovia	6572	SLC18A3	ORPHA:98914
HP:0005262	Abnormality of the synovia	6616	SNAP25	ORPHA:98914
HP:0005262	Abnormality of the synovia	5832	ALDH18A1	OMIM:219150
HP:0005262	Abnormality of the synovia	55768	NGLY1	ORPHA:404454
HP:0005262	Abnormality of the synovia	2316	FLNA	OMIM:304120
HP:0005262	Abnormality of the synovia	2273	FHL1	OMIM:300280
HP:0005262	Abnormality of the synovia	7169	TPM2	OMIM:108120
HP:0005262	Abnormality of the synovia	7169	TPM2	ORPHA:2020
HP:0005262	Abnormality of the synovia	6904	TBCD	ORPHA:496641
HP:0005262	Abnormality of the synovia	7547	ZIC3	OMIM:306955
HP:0005262	Abnormality of the synovia	3835	KIF22	OMIM:603546
HP:0005262	Abnormality of the synovia	2239	GPC4	ORPHA:373
HP:0005262	Abnormality of the synovia	2719	GPC3	ORPHA:373
HP:0005262	Abnormality of the synovia	7476	WNT7A	OMIM:228930
HP:0005262	Abnormality of the synovia	1290	COL5A2	OMIM:130010
HP:0005262	Abnormality of the synovia	523	ATP6V1A	ORPHA:357074
HP:0005262	Abnormality of the synovia	529	ATP6V1E1	ORPHA:357074
HP:0005262	Abnormality of the synovia	5528	PPP2R5D	ORPHA:457279
HP:0005262	Abnormality of the synovia	5528	PPP2R5D	OMIM:616355
HP:0005262	Abnormality of the synovia	8260	NAA10	OMIM:300855
HP:0005262	Abnormality of the synovia	50814	NSDHL	OMIM:308050
HP:0005262	Abnormality of the synovia	23522	KAT6B	OMIM:606170
HP:0005262	Abnormality of the synovia	5831	PYCR1	OMIM:612940
HP:0005262	Abnormality of the synovia	50628	GEMIN4	OMIM:617913
HP:0005262	Abnormality of the synovia	3339	HSPG2	OMIM:255800
HP:0005262	Abnormality of the synovia	6913	TBX15	ORPHA:93333
HP:0005262	Abnormality of the synovia	9896	FIG4	OMIM:216340
HP:0005262	Abnormality of the synovia	23299	BICD2	OMIM:618291
HP:0005262	Abnormality of the synovia	22827	PUF60	ORPHA:508488
HP:0005262	Abnormality of the synovia	1281	COL3A1	ORPHA:286
HP:0005262	Abnormality of the synovia	57190	SELENON	ORPHA:2020
HP:0005262	Abnormality of the synovia	58	ACTA1	ORPHA:2020
HP:0005262	Abnormality of the synovia	4633	MYL2	ORPHA:2020
HP:0005262	Abnormality of the synovia	3679	ITGA7	ORPHA:2020
HP:0005262	Abnormality of the synovia	9200	HACD1	ORPHA:2020
HP:0005262	Abnormality of the synovia	7170	TPM3	ORPHA:2020
HP:0005262	Abnormality of the synovia	7170	TPM3	OMIM:255310
HP:0005262	Abnormality of the synovia	51776	MAP3K20	ORPHA:2020
HP:0005262	Abnormality of the synovia	51651	PTRH2	ORPHA:456312
HP:0005262	Abnormality of the synovia	9427	ECEL1	OMIM:615065
HP:0005262	Abnormality of the synovia	7067	THRA	OMIM:614450
HP:0005262	Abnormality of the synovia	8085	KMT2D	OMIM:147920
HP:0005262	Abnormality of the synovia	7403	KDM6A	OMIM:147920
HP:0005262	Abnormality of the synovia	5167	ENPP1	ORPHA:51608
HP:0005262	Abnormality of the synovia	368	ABCC6	ORPHA:51608
HP:0005262	Abnormality of the synovia	1299	COL9A3	OMIM:600969
HP:0005262	Abnormality of the synovia	2737	GLI3	ORPHA:672
HP:0005262	Abnormality of the synovia	2737	GLI3	OMIM:146510
HP:0005262	Abnormality of the synovia	2737	GLI3	ORPHA:93322
HP:0005262	Abnormality of the synovia	55703	POLR3B	OMIM:614381
HP:0005262	Abnormality of the synovia	10262	SF3B4	OMIM:154400
HP:0005262	Abnormality of the synovia	1291	COL6A1	OMIM:254090
HP:0005262	Abnormality of the synovia	1291	COL6A1	ORPHA:75840
HP:0005262	Abnormality of the synovia	1292	COL6A2	OMIM:254090
HP:0005262	Abnormality of the synovia	1292	COL6A2	ORPHA:75840
HP:0005262	Abnormality of the synovia	1293	COL6A3	OMIM:254090
HP:0005262	Abnormality of the synovia	1293	COL6A3	ORPHA:75840
HP:0005262	Abnormality of the synovia	56896	DPYSL5	OMIM:619435
HP:0005262	Abnormality of the synovia	579	NKX3-2	OMIM:613330
HP:0005262	Abnormality of the synovia	10054	UBA2	OMIM:619959
HP:0005262	Abnormality of the synovia	79796	ALG9	OMIM:608776
HP:0005262	Abnormality of the synovia	6662	SOX9	ORPHA:140
HP:0005262	Abnormality of the synovia	6662	SOX9	OMIM:114290
HP:0005262	Abnormality of the synovia	4703	NEB	ORPHA:171436
HP:0005262	Abnormality of the synovia	10324	KLHL41	ORPHA:171436
HP:0005262	Abnormality of the synovia	56203	LMOD3	ORPHA:171436
HP:0005262	Abnormality of the synovia	1073	CFL2	ORPHA:171436
HP:0005262	Abnormality of the synovia	55784	MCTP2	ORPHA:1596
HP:0005262	Abnormality of the synovia	16	AARS1	OMIM:616339
HP:0005262	Abnormality of the synovia	51010	EXOSC3	OMIM:614678
HP:0005262	Abnormality of the synovia	9915	ARNT2	OMIM:615926
HP:0005262	Abnormality of the synovia	10225	CD96	OMIM:211750
HP:0005262	Abnormality of the synovia	4626	MYH8	ORPHA:3377
HP:0005262	Abnormality of the synovia	4626	MYH8	OMIM:158300
HP:0005262	Abnormality of the synovia	4952	OCRL	ORPHA:534
HP:0005262	Abnormality of the synovia	4952	OCRL	OMIM:309000
HP:0005262	Abnormality of the synovia	4038	LRP4	ORPHA:3258
HP:0005262	Abnormality of the synovia	324	APC	ORPHA:3258
HP:0005262	Abnormality of the synovia	2187	FANCB	ORPHA:3412
HP:0005262	Abnormality of the synovia	2187	FANCB	ORPHA:84
HP:0005262	Abnormality of the synovia	23499	MACF1	ORPHA:572013
HP:0005262	Abnormality of the synovia	387119	CEP85L	ORPHA:572013
HP:0005262	Abnormality of the synovia	29925	GMPPB	ORPHA:370968
HP:0005262	Abnormality of the synovia	79147	FKRP	ORPHA:370968
HP:0005262	Abnormality of the synovia	29954	POMT2	ORPHA:370968
HP:0005262	Abnormality of the synovia	29954	POMT2	OMIM:613156
HP:0005262	Abnormality of the synovia	9215	LARGE1	ORPHA:370968
HP:0005262	Abnormality of the synovia	10585	POMT1	ORPHA:370968
HP:0005262	Abnormality of the synovia	1351	COX8A	OMIM:619059
HP:0005262	Abnormality of the synovia	2530	FUT8	OMIM:618005
HP:0005262	Abnormality of the synovia	4052	LTBP1	OMIM:619451
HP:0005262	Abnormality of the synovia	4052	LTBP1	ORPHA:90349
HP:0005262	Abnormality of the synovia	3899	AFF3	OMIM:619297
HP:0005262	Abnormality of the synovia	3572	IL6ST	OMIM:618523
HP:0005262	Abnormality of the synovia	29920	PYCR2	ORPHA:481152
HP:0005262	Abnormality of the synovia	672	BRCA1	ORPHA:84
HP:0005262	Abnormality of the synovia	10459	MAD2L2	ORPHA:84
HP:0005262	Abnormality of the synovia	7516	XRCC2	ORPHA:84
HP:0005262	Abnormality of the synovia	29089	UBE2T	ORPHA:84
HP:0005262	Abnormality of the synovia	675	BRCA2	ORPHA:84
HP:0005262	Abnormality of the synovia	55120	FANCL	ORPHA:84
HP:0005262	Abnormality of the synovia	2177	FANCD2	ORPHA:84
HP:0005262	Abnormality of the synovia	2175	FANCA	ORPHA:84
HP:0005262	Abnormality of the synovia	2176	FANCC	ORPHA:84
HP:0005262	Abnormality of the synovia	2178	FANCE	ORPHA:84
HP:0005262	Abnormality of the synovia	2188	FANCF	ORPHA:84
HP:0005262	Abnormality of the synovia	2189	FANCG	ORPHA:84
HP:0005262	Abnormality of the synovia	5888	RAD51	ORPHA:84
HP:0005262	Abnormality of the synovia	5889	RAD51C	ORPHA:84
HP:0005262	Abnormality of the synovia	55159	RFWD3	ORPHA:84
HP:0005262	Abnormality of the synovia	83990	BRIP1	ORPHA:84
HP:0005262	Abnormality of the synovia	57697	FANCM	ORPHA:84
HP:0005262	Abnormality of the synovia	79728	PALB2	ORPHA:84
HP:0005262	Abnormality of the synovia	84464	SLX4	ORPHA:84
HP:0005262	Abnormality of the synovia	2072	ERCC4	ORPHA:84
HP:0005262	Abnormality of the synovia	55215	FANCI	ORPHA:84
HP:0005262	Abnormality of the synovia	6678	SPARC	OMIM:616507
HP:0005262	Abnormality of the synovia	9719	ADAMTSL2	ORPHA:1901
HP:0005262	Abnormality of the synovia	9509	ADAMTS2	ORPHA:1901
HP:0005262	Abnormality of the synovia	8200	GDF5	ORPHA:968
HP:0005262	Abnormality of the synovia	8200	GDF5	OMIM:201250
HP:0005262	Abnormality of the synovia	64093	SMOC1	ORPHA:1106
HP:0005262	Abnormality of the synovia	64093	SMOC1	OMIM:206920
HP:0005262	Abnormality of the synovia	25778	DSTYK	ORPHA:101003
HP:0005262	Abnormality of the synovia	1289	COL5A1	ORPHA:287
HP:0005262	Abnormality of the synovia	57531	HACE1	ORPHA:464282
HP:0005262	Abnormality of the synovia	57531	HACE1	OMIM:616756
HP:0005262	Abnormality of the synovia	2743	GLRB	ORPHA:3197
HP:0005262	Abnormality of the synovia	2741	GLRA1	ORPHA:3197
HP:0005262	Abnormality of the synovia	2741	GLRA1	OMIM:149400
HP:0005262	Abnormality of the synovia	10243	GPHN	ORPHA:3197
HP:0005262	Abnormality of the synovia	10243	GPHN	OMIM:149400
HP:0005262	Abnormality of the synovia	84896	ATAD1	ORPHA:3197
HP:0005262	Abnormality of the synovia	9152	SLC6A5	ORPHA:3197
HP:0005262	Abnormality of the synovia	55697	VAC14	ORPHA:3472
HP:0005262	Abnormality of the synovia	860	RUNX2	OMIM:119600
HP:0005262	Abnormality of the synovia	22872	SEC31A	OMIM:618651
HP:0005262	Abnormality of the synovia	10682	EBP	ORPHA:35173
HP:0005262	Abnormality of the synovia	545	ATR	OMIM:210600
HP:0005262	Abnormality of the synovia	28514	DLL1	ORPHA:93926
HP:0005262	Abnormality of the synovia	28514	DLL1	ORPHA:93924
HP:0005262	Abnormality of the synovia	28514	DLL1	ORPHA:93925
HP:0005262	Abnormality of the synovia	28514	DLL1	ORPHA:220386
HP:0005262	Abnormality of the synovia	2253	FGF8	ORPHA:93926
HP:0005262	Abnormality of the synovia	2253	FGF8	ORPHA:93924
HP:0005262	Abnormality of the synovia	2253	FGF8	ORPHA:93925
HP:0005262	Abnormality of the synovia	2253	FGF8	ORPHA:220386
HP:0005262	Abnormality of the synovia	6496	SIX3	ORPHA:93926
HP:0005262	Abnormality of the synovia	6496	SIX3	ORPHA:93924
HP:0005262	Abnormality of the synovia	6496	SIX3	ORPHA:93925
HP:0005262	Abnormality of the synovia	6496	SIX3	ORPHA:220386
HP:0005262	Abnormality of the synovia	7050	TGIF1	ORPHA:93926
HP:0005262	Abnormality of the synovia	7050	TGIF1	ORPHA:93924
HP:0005262	Abnormality of the synovia	7050	TGIF1	ORPHA:93925
HP:0005262	Abnormality of the synovia	7050	TGIF1	ORPHA:220386
HP:0005262	Abnormality of the synovia	4838	NODAL	ORPHA:93926
HP:0005262	Abnormality of the synovia	4838	NODAL	ORPHA:93924
HP:0005262	Abnormality of the synovia	4838	NODAL	ORPHA:93925
HP:0005262	Abnormality of the synovia	4838	NODAL	ORPHA:220386
HP:0005262	Abnormality of the synovia	6469	SHH	ORPHA:93926
HP:0005262	Abnormality of the synovia	6469	SHH	ORPHA:93924
HP:0005262	Abnormality of the synovia	6469	SHH	ORPHA:93925
HP:0005262	Abnormality of the synovia	6469	SHH	ORPHA:220386
HP:0005262	Abnormality of the synovia	7546	ZIC2	ORPHA:93926
HP:0005262	Abnormality of the synovia	7546	ZIC2	ORPHA:93924
HP:0005262	Abnormality of the synovia	7546	ZIC2	ORPHA:93925
HP:0005262	Abnormality of the synovia	7546	ZIC2	ORPHA:220386
HP:0005262	Abnormality of the synovia	6491	STIL	ORPHA:93926
HP:0005262	Abnormality of the synovia	6491	STIL	ORPHA:93924
HP:0005262	Abnormality of the synovia	6491	STIL	ORPHA:93925
HP:0005262	Abnormality of the synovia	6491	STIL	ORPHA:220386
HP:0005262	Abnormality of the synovia	2619	GAS1	ORPHA:93926
HP:0005262	Abnormality of the synovia	2619	GAS1	ORPHA:93924
HP:0005262	Abnormality of the synovia	2619	GAS1	ORPHA:93925
HP:0005262	Abnormality of the synovia	2619	GAS1	ORPHA:220386
HP:0005262	Abnormality of the synovia	84976	DISP1	ORPHA:93926
HP:0005262	Abnormality of the synovia	84976	DISP1	ORPHA:93924
HP:0005262	Abnormality of the synovia	84976	DISP1	ORPHA:93925
HP:0005262	Abnormality of the synovia	84976	DISP1	ORPHA:220386
HP:0005262	Abnormality of the synovia	2736	GLI2	ORPHA:93926
HP:0005262	Abnormality of the synovia	2736	GLI2	ORPHA:93924
HP:0005262	Abnormality of the synovia	2736	GLI2	ORPHA:93925
HP:0005262	Abnormality of the synovia	2736	GLI2	ORPHA:220386
HP:0005262	Abnormality of the synovia	8928	FOXH1	ORPHA:93926
HP:0005262	Abnormality of the synovia	8928	FOXH1	ORPHA:93924
HP:0005262	Abnormality of the synovia	8928	FOXH1	ORPHA:93925
HP:0005262	Abnormality of the synovia	8928	FOXH1	ORPHA:220386
HP:0005262	Abnormality of the synovia	5727	PTCH1	ORPHA:93926
HP:0005262	Abnormality of the synovia	5727	PTCH1	ORPHA:93924
HP:0005262	Abnormality of the synovia	5727	PTCH1	ORPHA:93925
HP:0005262	Abnormality of the synovia	5727	PTCH1	ORPHA:220386
HP:0005262	Abnormality of the synovia	50937	CDON	ORPHA:93926
HP:0005262	Abnormality of the synovia	50937	CDON	ORPHA:93924
HP:0005262	Abnormality of the synovia	50937	CDON	ORPHA:93925
HP:0005262	Abnormality of the synovia	50937	CDON	ORPHA:220386
HP:0005262	Abnormality of the synovia	2260	FGFR1	ORPHA:93924
HP:0005262	Abnormality of the synovia	2260	FGFR1	ORPHA:220386
HP:0005262	Abnormality of the synovia	23007	PLCH1	ORPHA:93925
HP:0005262	Abnormality of the synovia	10735	STAG2	ORPHA:93925
HP:0005262	Abnormality of the synovia	10735	STAG2	ORPHA:220386
HP:0005262	Abnormality of the synovia	53834	FGFRL1	OMIM:194190
HP:0005262	Abnormality of the synovia	1487	CTBP1	OMIM:194190
HP:0005262	Abnormality of the synovia	3954	LETM1	OMIM:194190
HP:0005262	Abnormality of the synovia	7468	NSD2	OMIM:194190
HP:0005262	Abnormality of the synovia	10815	CPLX1	OMIM:194190
HP:0005262	Abnormality of the synovia	64374	SIL1	ORPHA:559
HP:0005262	Abnormality of the synovia	51763	INPP5K	ORPHA:559
HP:0005262	Abnormality of the synovia	9487	PIGL	ORPHA:3474
HP:0005262	Abnormality of the synovia	55644	OSGEP	OMIM:617729
HP:0005262	Abnormality of the synovia	2697	GJA1	OMIM:164200
HP:0005262	Abnormality of the synovia	2313	FLI1	ORPHA:2308
HP:0005262	Abnormality of the synovia	23476	BRD4	ORPHA:199
HP:0005262	Abnormality of the synovia	9126	SMC3	ORPHA:199
HP:0005262	Abnormality of the synovia	8243	SMC1A	ORPHA:199
HP:0005262	Abnormality of the synovia	8243	SMC1A	ORPHA:220386
HP:0005262	Abnormality of the synovia	25836	NIPBL	ORPHA:199
HP:0005262	Abnormality of the synovia	55869	HDAC8	ORPHA:199
HP:0005262	Abnormality of the synovia	5885	RAD21	ORPHA:199
HP:0005262	Abnormality of the synovia	538	ATP7A	ORPHA:198
HP:0005262	Abnormality of the synovia	57003	CCDC47	OMIM:618268
HP:0005262	Abnormality of the synovia	85301	COL27A1	OMIM:615155
HP:0005262	Abnormality of the synovia	10526	IPO8	OMIM:619472
HP:0005262	Abnormality of the synovia	1857	DVL3	ORPHA:3107
HP:0005262	Abnormality of the synovia	7474	WNT5A	ORPHA:3107
HP:0005262	Abnormality of the synovia	1855	DVL1	ORPHA:3107
HP:0005262	Abnormality of the synovia	2535	FZD2	ORPHA:3107
HP:0005262	Abnormality of the synovia	1861	TOR1A	OMIM:618947
HP:0005262	Abnormality of the synovia	3098	HK1	OMIM:618547
HP:0005262	Abnormality of the synovia	6608	SMO	OMIM:241800
HP:0005262	Abnormality of the synovia	81031	SLC2A10	ORPHA:3342
HP:0005262	Abnormality of the synovia	145258	GSC	OMIM:602471
HP:0005262	Abnormality of the synovia	5728	PTEN	ORPHA:744
HP:0005262	Abnormality of the synovia	207	AKT1	ORPHA:744
HP:0005262	Abnormality of the synovia	6558	SLC12A2	OMIM:619083
HP:0005262	Abnormality of the synovia	10269	ZMPSTE24	ORPHA:740
HP:0005262	Abnormality of the synovia	78989	COLEC11	OMIM:265050
HP:0005262	Abnormality of the synovia	78989	COLEC11	ORPHA:293843
HP:0005262	Abnormality of the synovia	3251	HPRT1	OMIM:300322
HP:0005262	Abnormality of the synovia	51360	MBTPS2	OMIM:308205
HP:0005262	Abnormality of the synovia	7140	TNNT3	OMIM:618435
HP:0005262	Abnormality of the synovia	113246	C12orf57	OMIM:218340
HP:0005262	Abnormality of the synovia	3187	HNRNPH1	OMIM:620083
HP:0005262	Abnormality of the synovia	7030	TFE3	OMIM:301066
HP:0005262	Abnormality of the synovia	2006	ELN	ORPHA:90348
HP:0005262	Abnormality of the synovia	10516	FBLN5	ORPHA:90348
HP:0005262	Abnormality of the synovia	10516	FBLN5	ORPHA:90349
HP:0005262	Abnormality of the synovia	30008	EFEMP2	ORPHA:90349
HP:0005262	Abnormality of the synovia	284058	KANSL1	OMIM:610443
HP:0005262	Abnormality of the synovia	92344	GORAB	ORPHA:2078
HP:0005262	Abnormality of the synovia	10584	COLEC10	ORPHA:293843
HP:0005262	Abnormality of the synovia	5648	MASP1	ORPHA:293843
HP:0005262	Abnormality of the synovia	9939	RBM8A	ORPHA:3320
HP:0005262	Abnormality of the synovia	9939	RBM8A	OMIM:274000
HP:0005262	Abnormality of the synovia	9469	CHST3	OMIM:245600
HP:0005262	Abnormality of the synovia	26229	B3GAT3	OMIM:245600
HP:0005262	Abnormality of the synovia	81603	TRIM8	OMIM:619428
HP:0005262	Abnormality of the synovia	59341	TRPV4	ORPHA:93314
HP:0005262	Abnormality of the synovia	79848	CSPP1	ORPHA:397715
HP:0005262	Abnormality of the synovia	9786	KIAA0586	ORPHA:397715
HP:0005262	Abnormality of the synovia	91147	TMEM67	ORPHA:140976
HP:0005262	Abnormality of the synovia	3373	HYAL1	ORPHA:67041
HP:0005262	Abnormality of the synovia	60561	RINT1	OMIM:618641
HP:0005262	Abnormality of the synovia	4148	MATN3	ORPHA:93311
HP:0005262	Abnormality of the synovia	4088	SMAD3	ORPHA:284984
HP:0005262	Abnormality of the synovia	4088	SMAD3	OMIM:613795
HP:0005262	Abnormality of the synovia	2200	FBN1	OMIM:154700
HP:0005262	Abnormality of the synovia	5176	SERPINF1	OMIM:613982
HP:0005262	Abnormality of the synovia	10491	CRTAP	OMIM:610682
HP:0005262	Abnormality of the synovia	7048	TGFBR2	OMIM:610168
HP:0005262	Abnormality of the synovia	7042	TGFB2	OMIM:614816
HP:0005262	Abnormality of the synovia	60681	FKBP10	OMIM:259450
HP:0005262	Abnormality of the synovia	60681	FKBP10	OMIM:610968
HP:0005262	Abnormality of the synovia	1277	COL1A1	OMIM:259420
HP:0005262	Abnormality of the synovia	1278	COL1A2	OMIM:259420
HP:0005262	Abnormality of the synovia	4313	MMP2	OMIM:259600
HP:0005262	Abnormality of the synovia	153241	CEP120	OMIM:616300
HP:0005262	Abnormality of the synovia	1108	CHD4	OMIM:617159
HP:0005262	Abnormality of the synovia	54187	NANS	OMIM:610442
HP:0005262	Abnormality of the synovia	64131	XYLT1	OMIM:615777
HP:0005262	Abnormality of the synovia	2317	FLNB	OMIM:108721
HP:0005262	Abnormality of the synovia	57539	WDR35	OMIM:614091
HP:0005262	Abnormality of the synovia	3636	INPPL1	OMIM:258480
HP:0005262	Abnormality of the synovia	633	BGN	OMIM:300106
HP:0005262	Abnormality of the synovia	26175	LYSET	OMIM:619345
HP:0005262	Abnormality of the synovia	9321	TRIP11	OMIM:184260
HP:0005262	Abnormality of the synovia	83452	RAB33B	OMIM:615222
HP:0005262	Abnormality of the synovia	51098	IFT52	OMIM:617102
HP:0005262	Abnormality of the synovia	55790	CSGALNACT1	OMIM:618870
HP:0005262	Abnormality of the synovia	51025	PAM16	OMIM:613320
HP:0005262	Abnormality of the synovia	23169	SLC35D1	OMIM:269250
HP:0005262	Abnormality of the synovia	2879	GPX4	OMIM:250220
HP:0005262	Abnormality of the synovia	9496	TBX4	ORPHA:261279
HP:0005262	Abnormality of the synovia	51715	RAB23	OMIM:201000
HP:0005262	Abnormality of the synovia	2623	GATA1	OMIM:190685
HP:0005262	Abnormality of the synovia	50485	SMARCAL1	ORPHA:1830
HP:0005262	Abnormality of the synovia	50485	SMARCAL1	OMIM:242900
HP:0005262	Abnormality of the synovia	3207	HOXA11	OMIM:605432
HP:0005262	Abnormality of the synovia	9382	COG1	OMIM:611209
HP:0005262	Abnormality of the synovia	9653	HS2ST1	OMIM:619194
HP:0005262	Abnormality of the synovia	274	BIN1	ORPHA:169186
HP:0005262	Abnormality of the synovia	10290	SPEG	ORPHA:169186
HP:0005262	Abnormality of the synovia	10290	SPEG	OMIM:615959
HP:0005262	Abnormality of the synovia	7273	TTN	ORPHA:169186
HP:0005262	Abnormality of the synovia	55906	ZC4H2	OMIM:301041
HP:0005262	Abnormality of the synovia	4593	MUSK	OMIM:208150
HP:0005262	Abnormality of the synovia	29895	MYL11	OMIM:619110
HP:0005262	Abnormality of the synovia	100151683	RNU4ATAC	OMIM:210710
HP:0005262	Abnormality of the synovia	100151683	RNU4ATAC	ORPHA:353298
HP:0005262	Abnormality of the synovia	100151683	RNU4ATAC	OMIM:616651
HP:0005262	Abnormality of the synovia	9894	TELO2	ORPHA:488642
HP:0005262	Abnormality of the synovia	285175	UNC80	OMIM:616801
HP:0005262	Abnormality of the synovia	285175	UNC80	ORPHA:371364
HP:0005262	Abnormality of the synovia	259232	NALCN	ORPHA:371364
HP:0005262	Abnormality of the synovia	259232	NALCN	OMIM:616266
HP:0005262	Abnormality of the synovia	84992	PIGY	OMIM:616809
HP:0005262	Abnormality of the synovia	64324	NSD1	ORPHA:821
HP:0005262	Abnormality of the synovia	29072	SETD2	ORPHA:821
HP:0005262	Abnormality of the synovia	10297	APC2	ORPHA:821
HP:0005262	Abnormality of the synovia	11160	ERLIN2	ORPHA:209951
HP:0005262	Abnormality of the synovia	2617	GARS1	OMIM:619042
HP:0005262	Abnormality of the synovia	26137	ZBTB20	OMIM:259050
HP:0005262	Abnormality of the synovia	26137	ZBTB20	ORPHA:3042
HP:0005262	Abnormality of the synovia	6536	SLC6A9	OMIM:617301
HP:0005262	Abnormality of the synovia	163175	LGI4	OMIM:617468
HP:0005262	Abnormality of the synovia	2201	FBN2	OMIM:121050
HP:0005262	Abnormality of the synovia	4773	NFATC2	OMIM:620232
HP:0005262	Abnormality of the synovia	1161	ERCC8	OMIM:216400
HP:0005262	Abnormality of the synovia	87178	PNPT1	ORPHA:319514
HP:0005262	Abnormality of the synovia	79158	GNPTAB	ORPHA:576
HP:0005262	Abnormality of the synovia	4621	MYH3	OMIM:178110
HP:0005262	Abnormality of the synovia	4621	MYH3	OMIM:193700
HP:0005262	Abnormality of the synovia	5745	PTH1R	OMIM:156400
HP:0005262	Abnormality of the synovia	84068	SLC10A7	OMIM:618363
HP:0005262	Abnormality of the synovia	2157	F8	ORPHA:169805
HP:0005262	Abnormality of the synovia	7317	UBA1	ORPHA:1145
HP:0005262	Abnormality of the synovia	7138	TNNT1	ORPHA:98902
HP:0005262	Abnormality of the synovia	7138	TNNT1	OMIM:605355
HP:0005262	Abnormality of the synovia	1280	COL2A1	OMIM:156550
HP:0005262	Abnormality of the synovia	5297	PI4KA	OMIM:619621
HP:0005262	Abnormality of the synovia	54681	P4HTM	OMIM:618493
HP:0005262	Abnormality of the synovia	5277	PIGA	OMIM:300868
HP:0005262	Abnormality of the synovia	6023	RMRP	OMIM:607095
HP:0005262	Abnormality of the synovia	2783	GNB2	OMIM:619503
HP:0005262	Abnormality of the synovia	4632	MYL1	OMIM:618414
HP:0005262	Abnormality of the synovia	4000	LMNA	OMIM:613205
HP:0005262	Abnormality of the synovia	54808	DYM	OMIM:607326
HP:0005262	Abnormality of the synovia	54808	DYM	ORPHA:239
HP:0005262	Abnormality of the synovia	3911	LAMA5	OMIM:620076
HP:0005262	Abnormality of the synovia	411	ARSB	OMIM:253200
HP:0005262	Abnormality of the synovia	10216	PRG4	OMIM:208250
HP:0005262	Abnormality of the synovia	654	BMP6	ORPHA:465508
HP:0005262	Abnormality of the synovia	3077	HFE	ORPHA:465508
HP:0005262	Abnormality of the synovia	23233	EXOC6B	ORPHA:93359
HP:0005262	Abnormality of the synovia	165	AEBP1	ORPHA:536532
HP:0005262	Abnormality of the synovia	124583	CANT1	OMIM:251450
HP:0005262	Abnormality of the synovia	5447	POR	ORPHA:95699
HP:0005262	Abnormality of the synovia	1303	COL12A1	ORPHA:536516
HP:0005262	Abnormality of the synovia	57477	SHROOM4	ORPHA:85288
HP:0005262	Abnormality of the synovia	2192	FBLN1	ORPHA:404451
HP:0005262	Abnormality of the synovia	8218	CLTCL1	ORPHA:453510
HP:0005262	Abnormality of the synovia	1311	COMP	ORPHA:750
HP:0005262	Abnormality of the synovia	2137	EXTL3	ORPHA:508533
HP:0005262	Abnormality of the synovia	1146	CHRNG	OMIM:265000
HP:0005262	Abnormality of the synovia	10717	AP4B1	ORPHA:280763
HP:0005262	Abnormality of the synovia	10717	AP4B1	OMIM:614066
HP:0005262	Abnormality of the synovia	9179	AP4M1	ORPHA:280763
HP:0005262	Abnormality of the synovia	11154	AP4S1	ORPHA:280763
HP:0005262	Abnormality of the synovia	23431	AP4E1	ORPHA:280763
HP:0005262	Abnormality of the synovia	126792	B3GALT6	ORPHA:536467
HP:0005262	Abnormality of the synovia	29928	TIMM22	OMIM:618851
HP:0005262	Abnormality of the synovia	6210	RPS15A	OMIM:618313
HP:0005262	Abnormality of the synovia	9775	EIF4A3	OMIM:268305
HP:0005262	Abnormality of the synovia	25885	POLR1A	OMIM:616462
HP:0005262	Abnormality of the synovia	1836	SLC26A2	ORPHA:93307
HP:0005262	Abnormality of the synovia	2990	GUSB	OMIM:253220
HP:0005262	Abnormality of the synovia	23443	SLC35A3	OMIM:615553
HP:0005262	Abnormality of the synovia	65082	VPS33A	OMIM:617303
HP:0005262	Abnormality of the synovia	84700	MYO18B	OMIM:616549
HP:0005262	Abnormality of the synovia	55681	SCYL2	ORPHA:1143
HP:0005262	Abnormality of the synovia	84570	COL25A1	ORPHA:1143
HP:0005262	Abnormality of the synovia	57222	ERGIC1	ORPHA:1143
HP:0005262	Abnormality of the synovia	4897	NRCAM	OMIM:619833
HP:0005262	Abnormality of the synovia	2720	GLB1	ORPHA:79255
HP:0005262	Abnormality of the synovia	8546	AP3B1	OMIM:608233
HP:0005262	Abnormality of the synovia	8838	CCN6	ORPHA:1159
HP:0005262	Abnormality of the synovia	55325	UFSP2	OMIM:617974
HP:0005262	Abnormality of the synovia	1300	COL10A1	OMIM:156500
HP:0005262	Abnormality of the synovia	153642	ARSK	OMIM:619698
HP:0005262	Abnormality of the synovia	57728	WDR19	OMIM:614376
HP:0005262	Abnormality of the synovia	79659	DYNC2H1	OMIM:613091
HP:0005262	Abnormality of the synovia	55112	DYNC2I1	OMIM:615503
HP:0005262	Abnormality of the synovia	255758	DYNLT2B	OMIM:617405
HP:0005262	Abnormality of the synovia	2121	EVC	OMIM:225500
HP:0005262	Abnormality of the synovia	132884	EVC2	OMIM:225500
HP:0005262	Abnormality of the synovia	55835	CENPJ	OMIM:613676
HP:0005262	Abnormality of the synovia	2263	FGFR2	ORPHA:313855
HP:0005262	Abnormality of the synovia	2067	ERCC1	OMIM:610758
HP:0005262	Abnormality of the synovia	64135	IFIH1	OMIM:182250
HP:0005262	Abnormality of the synovia	4921	DDR2	OMIM:271665
HP:0005262	Abnormality of the synovia	57187	THOC2	OMIM:300957
HP:0005262	Abnormality of the synovia	7355	SLC35A2	ORPHA:356961
HP:0005262	Abnormality of the synovia	55628	ZNF407	OMIM:619557
HP:0005262	Abnormality of the synovia	51608	GET4	OMIM:620200
HP:0005262	Abnormality of the synovia	4796	TONSL	ORPHA:93357
HP:0005262	Abnormality of the synovia	28962	OSTM1	OMIM:259720
HP:0005262	Abnormality of the synovia	1717	DHCR7	OMIM:270400
HP:0005262	Abnormality of the synovia	27125	AFF4	ORPHA:444077
HP:0005262	Abnormality of the synovia	4784	NFIX	ORPHA:447980
HP:0005262	Abnormality of the synovia	84823	LMNB2	OMIM:619180
HP:0005262	Abnormality of the synovia	51112	TRAPPC12	ORPHA:500144
HP:0005262	Abnormality of the synovia	29998	BICRA	OMIM:619325
HP:0005262	Abnormality of the synovia	9451	EIF2AK3	OMIM:226980
HP:0005262	Abnormality of the synovia	25871	NEPRO	OMIM:618853
HP:0005262	Abnormality of the synovia	79633	FAT4	OMIM:615546
HP:0005262	Abnormality of the synovia	2131	EXT1	ORPHA:321
HP:0005262	Abnormality of the synovia	2132	EXT2	ORPHA:321
HP:0005262	Abnormality of the synovia	26123	TCTN3	OMIM:614815
HP:0005262	Abnormality of the synovia	9851	KIAA0753	OMIM:619479
HP:0005262	Abnormality of the synovia	2261	FGFR3	ORPHA:15
HP:0005262	Abnormality of the synovia	9663	LPIN2	ORPHA:77297
HP:0005262	Abnormality of the synovia	6399	TRAPPC2	ORPHA:93284
HP:0005262	Abnormality of the synovia	6775	STAT4	ORPHA:85408
HP:0005262	Abnormality of the synovia	3560	IL2RB	ORPHA:85408
HP:0005262	Abnormality of the synovia	79722	ANKRD55	ORPHA:85408
HP:0005262	Abnormality of the synovia	26191	PTPN22	ORPHA:85408
HP:0005262	Abnormality of the synovia	919	CD247	ORPHA:85408
HP:0005262	Abnormality of the synovia	3559	IL2RA	ORPHA:85408
HP:0005262	Abnormality of the synovia	5771	PTPN2	ORPHA:85408
HP:0005262	Abnormality of the synovia	64127	NOD2	OMIM:186580
HP:0005262	Abnormality of the synovia	64127	NOD2	ORPHA:90340
HP:0005262	Abnormality of the synovia	11128	POLR3A	ORPHA:3455
HP:0005262	Abnormality of the synovia	5604	MAP2K1	OMIM:163950
HP:0005262	Abnormality of the synovia	5781	PTPN11	OMIM:163950
HP:0005262	Abnormality of the synovia	673	BRAF	OMIM:163950
HP:0004306	Abnormal endocardium morphology	6901	TAFAZZIN	ORPHA:111
HP:0004306	Abnormal endocardium morphology	6901	TAFAZZIN	OMIM:302060
HP:0004306	Abnormal endocardium morphology	2702	GJA5	OMIM:108770
HP:0004306	Abnormal endocardium morphology	57538	ALPK3	OMIM:618052
HP:0004306	Abnormal endocardium morphology	55388	MCM10	OMIM:619313
HP:0004306	Abnormal endocardium morphology	88	ACTN2	OMIM:612158
HP:0004306	Abnormal endocardium morphology	3425	IDUA	OMIM:607014
HP:0004306	Abnormal endocardium morphology	3425	IDUA	ORPHA:93473
HP:0004306	Abnormal endocardium morphology	8048	CSRP3	OMIM:607482
HP:0004306	Abnormal endocardium morphology	6584	SLC22A5	OMIM:212140
HP:0004306	Abnormal endocardium morphology	84818	IL17RC	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	64581	CLEC7A	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	23765	IL17RA	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	10758	TRAF3IP2	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	112744	IL17F	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	4625	MYH7	ORPHA:1880
HP:0004306	Abnormal endocardium morphology	6804	STX1A	ORPHA:904
HP:0004306	Abnormal endocardium morphology	7461	CLIP2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	84277	DNAJC30	ORPHA:904
HP:0004306	Abnormal endocardium morphology	8468	FKBP6	ORPHA:904
HP:0004306	Abnormal endocardium morphology	5982	RFC2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	2969	GTF2I	ORPHA:904
HP:0004306	Abnormal endocardium morphology	3984	LIMK1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	9569	GTF2IRD1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	155382	VPS37D	ORPHA:904
HP:0004306	Abnormal endocardium morphology	155368	METTL27	ORPHA:904
HP:0004306	Abnormal endocardium morphology	114049	BUD23	ORPHA:904
HP:0004306	Abnormal endocardium morphology	7458	EIF4H	ORPHA:904
HP:0004306	Abnormal endocardium morphology	84163	GTF2IRD2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	9275	BCL7B	ORPHA:904
HP:0004306	Abnormal endocardium morphology	26608	TBL2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	653361	NCF1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	135886	TMEM270	ORPHA:904
HP:0004306	Abnormal endocardium morphology	51085	MLXIPL	ORPHA:904
HP:0004306	Abnormal endocardium morphology	9031	BAZ1B	ORPHA:904
HP:0004306	Abnormal endocardium morphology	2006	ELN	ORPHA:904
HP:0004306	Abnormal endocardium morphology	5167	ENPP1	ORPHA:758
HP:0004306	Abnormal endocardium morphology	368	ABCC6	ORPHA:758
HP:0004306	Abnormal endocardium morphology	3593	IL12B	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	3106	HLA-B	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	6945	MLX	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	2717	GLA	ORPHA:324
HP:0004306	Abnormal endocardium morphology	5781	PTPN11	ORPHA:500
HP:0004306	Abnormal endocardium morphology	673	BRAF	ORPHA:500
HP:0004306	Abnormal endocardium morphology	5894	RAF1	ORPHA:500
HP:0004306	Abnormal endocardium morphology	7414	VCL	OMIM:613255
HP:0004306	Abnormal endocardium morphology	3431	SP110	OMIM:235550
HP:0004306	Abnormal endocardium morphology	5156	PDGFRA	OMIM:607685
HP:0004306	Abnormal endocardium morphology	4634	MYL3	OMIM:608751
HP:0004306	Abnormal endocardium morphology	11155	LDB3	OMIM:601493
HP:0004306	Abnormal endocardium morphology	2629	GBA1	ORPHA:2072
HP:0004306	Abnormal endocardium morphology	5573	PRKAR1A	ORPHA:615
HP:0004306	Abnormal endocardium morphology	5573	PRKAR1A	OMIM:255960
HP:0004306	Abnormal endocardium morphology	149233	IL23R	ORPHA:117
HP:0004306	Abnormal endocardium morphology	6775	STAT4	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3586	IL10	ORPHA:117
HP:0004306	Abnormal endocardium morphology	4210	MEFV	ORPHA:117
HP:0004306	Abnormal endocardium morphology	1230	CCR1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	355	FAS	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3592	IL12A	ORPHA:117
HP:0004306	Abnormal endocardium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	7099	TLR4	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3459	IFNGR1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	720	C4A	ORPHA:117
HP:0004306	Abnormal endocardium morphology	337867	UBAC2	ORPHA:117
HP:0004306	Abnormal endocardium morphology	51752	ERAP1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	8302	KLRC4	ORPHA:117
HP:0000437	Depressed nasal tip	6909	TBX2	OMIM:618223
HP:0000437	Depressed nasal tip	55120	FANCL	OMIM:614083
HP:0000437	Depressed nasal tip	4593	MUSK	OMIM:208150
HP:0000437	Depressed nasal tip	23126	POGZ	OMIM:616364
HP:0000437	Depressed nasal tip	60529	ALX4	OMIM:613451
HP:0000437	Depressed nasal tip	60529	ALX4	ORPHA:52022
HP:0000437	Depressed nasal tip	8260	NAA10	OMIM:300855
HP:0000437	Depressed nasal tip	6711	SPTBN1	OMIM:619475
HP:0000437	Depressed nasal tip	2316	FLNA	ORPHA:88630
HP:0000437	Depressed nasal tip	2316	FLNA	OMIM:300244
HP:0000437	Depressed nasal tip	5557	PRIM1	OMIM:620005
HP:0000437	Depressed nasal tip	8626	TP63	OMIM:604292
HP:0000437	Depressed nasal tip	71	ACTG1	ORPHA:2995
HP:0000437	Depressed nasal tip	60	ACTB	ORPHA:2995
HP:0000437	Depressed nasal tip	2132	EXT2	ORPHA:52022
HP:0000437	Depressed nasal tip	51317	PHF21A	ORPHA:52022
HP:0000437	Depressed nasal tip	5727	PTCH1	OMIM:610828
HP:0000437	Depressed nasal tip	7050	TGIF1	OMIM:142946
HP:0000437	Depressed nasal tip	9839	ZEB2	ORPHA:261537
HP:0000437	Depressed nasal tip	9839	ZEB2	ORPHA:261552
HP:0000437	Depressed nasal tip	78989	COLEC11	OMIM:265050
HP:0000437	Depressed nasal tip	6872	TAF1	OMIM:300966
HP:0000437	Depressed nasal tip	1968	EIF2S3	OMIM:300148
HP:0000437	Depressed nasal tip	7403	KDM6A	OMIM:300867
HP:0000437	Depressed nasal tip	7403	KDM6A	OMIM:147920
HP:0000437	Depressed nasal tip	4613	MYCN	OMIM:164280
HP:0000437	Depressed nasal tip	22858	CILK1	OMIM:612651
HP:0000437	Depressed nasal tip	55770	EXOC2	OMIM:619306
HP:0000437	Depressed nasal tip	57724	EPG5	ORPHA:1493
HP:0000437	Depressed nasal tip	4297	KMT2A	OMIM:605130
HP:0000437	Depressed nasal tip	8085	KMT2D	OMIM:147920
HP:0005278	Hypoplastic nasal tip	1947	EFNB1	OMIM:304110
HP:0005278	Hypoplastic nasal tip	6885	MAP3K7	OMIM:157800
HP:0000430	Underdeveloped nasal alae	55217	TMLHE	OMIM:300872
HP:0000430	Underdeveloped nasal alae	3763	KCNJ6	ORPHA:435628
HP:0000430	Underdeveloped nasal alae	3763	KCNJ6	OMIM:614098
HP:0000430	Underdeveloped nasal alae	4621	MYH3	ORPHA:2053
HP:0000430	Underdeveloped nasal alae	4621	MYH3	OMIM:193700
HP:0000430	Underdeveloped nasal alae	259232	NALCN	ORPHA:2053
HP:0000430	Underdeveloped nasal alae	1281	COL3A1	OMIM:618343
HP:0000430	Underdeveloped nasal alae	341640	FREM2	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	341640	FREM2	OMIM:617666
HP:0000430	Underdeveloped nasal alae	80144	FRAS1	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	80144	FRAS1	OMIM:219000
HP:0000430	Underdeveloped nasal alae	23426	GRIP1	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	340533	NEXMIF	OMIM:300912
HP:0000430	Underdeveloped nasal alae	1859	DYRK1A	ORPHA:268261
HP:0000430	Underdeveloped nasal alae	29123	ANKRD11	ORPHA:2332
HP:0000430	Underdeveloped nasal alae	29123	ANKRD11	OMIM:148050
HP:0000430	Underdeveloped nasal alae	9759	HDAC4	ORPHA:1001
HP:0000430	Underdeveloped nasal alae	8092	ALX1	OMIM:613456
HP:0000430	Underdeveloped nasal alae	8092	ALX1	ORPHA:306542
HP:0000430	Underdeveloped nasal alae	100151683	RNU4ATAC	ORPHA:353298
HP:0000430	Underdeveloped nasal alae	100151683	RNU4ATAC	OMIM:616651
HP:0000430	Underdeveloped nasal alae	79650	USB1	OMIM:604173
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	ORPHA:453504
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	OMIM:616580
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	ORPHA:352665
HP:0000430	Underdeveloped nasal alae	4784	NFIX	ORPHA:447980
HP:0000430	Underdeveloped nasal alae	9241	NOG	OMIM:184460
HP:0000430	Underdeveloped nasal alae	9241	NOG	OMIM:186500
HP:0000430	Underdeveloped nasal alae	5631	PRPS1	ORPHA:423479
HP:0000430	Underdeveloped nasal alae	197131	UBR1	OMIM:243800
HP:0000430	Underdeveloped nasal alae	197131	UBR1	ORPHA:2315
HP:0000430	Underdeveloped nasal alae	10847	SRCAP	OMIM:136140
HP:0000430	Underdeveloped nasal alae	91179	SCARF2	OMIM:600920
HP:0000430	Underdeveloped nasal alae	3020	H3-3A	OMIM:619720
HP:0000430	Underdeveloped nasal alae	613	BCR	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	1399	CRKL	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	5594	MAPK1	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	29998	BICRA	OMIM:619325
HP:0000430	Underdeveloped nasal alae	80816	ASXL3	OMIM:615485
HP:0000430	Underdeveloped nasal alae	80816	ASXL3	ORPHA:352577
HP:0000430	Underdeveloped nasal alae	10978	CLP1	ORPHA:411493
HP:0000430	Underdeveloped nasal alae	10978	CLP1	OMIM:615803
HP:0000430	Underdeveloped nasal alae	2317	FLNB	OMIM:112310
HP:0000430	Underdeveloped nasal alae	54101	RIPK4	ORPHA:1234
HP:0000430	Underdeveloped nasal alae	54101	RIPK4	OMIM:263650
HP:0000430	Underdeveloped nasal alae	526	ATP6V1B2	OMIM:616455
HP:0000430	Underdeveloped nasal alae	5831	PYCR1	OMIM:614438
HP:0000430	Underdeveloped nasal alae	5339	PLEC	OMIM:612138
HP:0000430	Underdeveloped nasal alae	150468	CKAP2L	ORPHA:3255
HP:0000430	Underdeveloped nasal alae	150468	CKAP2L	OMIM:272440
HP:0000430	Underdeveloped nasal alae	1908	EDN3	ORPHA:897
HP:0000430	Underdeveloped nasal alae	4286	MITF	ORPHA:897
HP:0000430	Underdeveloped nasal alae	4286	MITF	OMIM:193510
HP:0000430	Underdeveloped nasal alae	1910	EDNRB	ORPHA:897
HP:0000430	Underdeveloped nasal alae	6663	SOX10	ORPHA:897
HP:0000430	Underdeveloped nasal alae	6663	SOX10	ORPHA:163746
HP:0000430	Underdeveloped nasal alae	6595	SMARCA2	OMIM:619293
HP:0000430	Underdeveloped nasal alae	1896	EDA	OMIM:305100
HP:0000430	Underdeveloped nasal alae	284058	KANSL1	ORPHA:363958
HP:0000430	Underdeveloped nasal alae	284058	KANSL1	ORPHA:363965
HP:0000430	Underdeveloped nasal alae	8260	NAA10	OMIM:300855
HP:0000430	Underdeveloped nasal alae	8260	NAA10	ORPHA:276432
HP:0000430	Underdeveloped nasal alae	51109	RDH11	OMIM:616108
HP:0000430	Underdeveloped nasal alae	51109	RDH11	ORPHA:436245
HP:0000430	Underdeveloped nasal alae	2248	FGF3	ORPHA:90024
HP:0000430	Underdeveloped nasal alae	2697	GJA1	ORPHA:2710
HP:0000430	Underdeveloped nasal alae	2697	GJA1	OMIM:164200
HP:0000430	Underdeveloped nasal alae	2697	GJA1	OMIM:257850
HP:0000430	Underdeveloped nasal alae	64327	LMBR1	OMIM:135750
HP:0000430	Underdeveloped nasal alae	64327	LMBR1	ORPHA:2378
HP:0000430	Underdeveloped nasal alae	9401	RECQL4	OMIM:218600
HP:0000430	Underdeveloped nasal alae	79796	ALG9	OMIM:263210
HP:0000430	Underdeveloped nasal alae	79796	ALG9	ORPHA:79328
HP:0000430	Underdeveloped nasal alae	3188	HNRNPH2	OMIM:300986
HP:0000430	Underdeveloped nasal alae	5813	PURA	ORPHA:438216
HP:0000430	Underdeveloped nasal alae	5813	PURA	OMIM:616158
HP:0000430	Underdeveloped nasal alae	55012	PPP2R3C	OMIM:618419
HP:0000430	Underdeveloped nasal alae	4598	MVK	OMIM:610377
HP:0000430	Underdeveloped nasal alae	5000	ORC4	OMIM:613800
HP:0000430	Underdeveloped nasal alae	25942	SIN3A	OMIM:613406
HP:0000430	Underdeveloped nasal alae	1499	CTNNB1	ORPHA:404473
HP:0000430	Underdeveloped nasal alae	55699	IARS2	OMIM:616007
HP:0000430	Underdeveloped nasal alae	7204	TRIO	OMIM:618825
HP:0000430	Underdeveloped nasal alae	117581	TWIST2	OMIM:209885
HP:0000430	Underdeveloped nasal alae	117581	TWIST2	ORPHA:920
HP:0000430	Underdeveloped nasal alae	79005	SCNM1	OMIM:620107
HP:0000430	Underdeveloped nasal alae	10283	CWC27	OMIM:250410
HP:0000430	Underdeveloped nasal alae	10283	CWC27	ORPHA:166035
HP:0000430	Underdeveloped nasal alae	8626	TP63	OMIM:129400
HP:0000430	Underdeveloped nasal alae	157570	ESCO2	ORPHA:3103
HP:0000430	Underdeveloped nasal alae	157570	ESCO2	OMIM:268300
HP:0000430	Underdeveloped nasal alae	8085	KMT2D	OMIM:620186
HP:0000430	Underdeveloped nasal alae	2132	EXT2	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	60529	ALX4	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	60529	ALX4	ORPHA:228390
HP:0000430	Underdeveloped nasal alae	51317	PHF21A	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	10907	TXNL4A	OMIM:608572
HP:0000430	Underdeveloped nasal alae	8567	MADD	OMIM:619005
HP:0000430	Underdeveloped nasal alae	10651	MTX2	OMIM:619127
HP:0000430	Underdeveloped nasal alae	4256	MGP	ORPHA:85202
HP:0000430	Underdeveloped nasal alae	8481	OFD1	OMIM:311200
HP:0000430	Underdeveloped nasal alae	8481	OFD1	ORPHA:2750
HP:0000430	Underdeveloped nasal alae	5500	PPP1CB	OMIM:617506
HP:0000430	Underdeveloped nasal alae	2542	SLC37A4	OMIM:619525
HP:0000430	Underdeveloped nasal alae	7291	TWIST1	OMIM:617746
HP:0000430	Underdeveloped nasal alae	9993	DGCR2	OMIM:192430
HP:0000430	Underdeveloped nasal alae	8220	ESS2	OMIM:192430
HP:0000430	Underdeveloped nasal alae	8214	DGCR6	OMIM:192430
HP:0000430	Underdeveloped nasal alae	54487	DGCR8	OMIM:192430
HP:0000430	Underdeveloped nasal alae	6899	TBX1	OMIM:192430
HP:0000430	Underdeveloped nasal alae	5077	PAX3	ORPHA:894
HP:0000430	Underdeveloped nasal alae	5077	PAX3	OMIM:193500
HP:0000430	Underdeveloped nasal alae	80267	EDEM3	OMIM:619493
HP:0000430	Underdeveloped nasal alae	5295	PIK3R1	OMIM:269880
HP:0000430	Underdeveloped nasal alae	54888	NSUN2	OMIM:611091
HP:0000430	Underdeveloped nasal alae	1984	EIF5A	OMIM:619376
HP:0000430	Underdeveloped nasal alae	5116	PCNT	ORPHA:2637
HP:0000430	Underdeveloped nasal alae	84700	MYO18B	OMIM:616549
HP:0000430	Underdeveloped nasal alae	55835	CENPJ	OMIM:613676
HP:0000430	Underdeveloped nasal alae	1387	CREBBP	OMIM:618332
HP:0000430	Underdeveloped nasal alae	101929726	MYMX	OMIM:619941
HP:0000430	Underdeveloped nasal alae	672	BRCA1	OMIM:617883
HP:0000430	Underdeveloped nasal alae	4921	DDR2	OMIM:618175
HP:0000430	Underdeveloped nasal alae	6878	TAF6	OMIM:617126
HP:0000430	Underdeveloped nasal alae	51053	GMNN	OMIM:616835
HP:0000430	Underdeveloped nasal alae	1642	DDB1	OMIM:619426
HP:0000430	Underdeveloped nasal alae	7319	UBE2A	ORPHA:163956
HP:0000430	Underdeveloped nasal alae	6664	SOX11	OMIM:615866
HP:0000430	Underdeveloped nasal alae	7227	TRPS1	OMIM:190351
HP:0031140	Abnormal liver sonography	3988	LIPA	OMIM:278000
HP:0031140	Abnormal liver sonography	2542	SLC37A4	OMIM:619525
HP:0031140	Abnormal liver sonography	5105	PCK1	OMIM:261680
HP:0031140	Abnormal liver sonography	54914	FOCAD	OMIM:619991
HP:0031140	Abnormal liver sonography	191	AHCY	OMIM:613752
HP:0031141	Increased hepatic echogenicity	3988	LIPA	OMIM:278000
HP:0031141	Increased hepatic echogenicity	2542	SLC37A4	OMIM:619525
HP:0031141	Increased hepatic echogenicity	5105	PCK1	OMIM:261680
HP:0031142	Abnormal hepatic echogenicity	3988	LIPA	OMIM:278000
HP:0031142	Abnormal hepatic echogenicity	2542	SLC37A4	OMIM:619525
HP:0031142	Abnormal hepatic echogenicity	5105	PCK1	OMIM:261680
HP:0031142	Abnormal hepatic echogenicity	54914	FOCAD	OMIM:619991
HP:0031142	Abnormal hepatic echogenicity	191	AHCY	OMIM:613752
HP:0031143	Decreased hepatic echogenicity	191	AHCY	OMIM:613752
HP:0031146	Impaired oral bolus formation	55768	NGLY1	OMIM:615273
HP:0031146	Impaired oral bolus formation	55768	NGLY1	ORPHA:404454
HP:0031146	Impaired oral bolus formation	3798	KIF5A	OMIM:617235
HP:0100240	Synostosis of joints	3549	IHH	OMIM:112500
HP:0100240	Synostosis of joints	3549	IHH	ORPHA:93388
HP:0100240	Synostosis of joints	9241	NOG	OMIM:611377
HP:0100240	Synostosis of joints	9241	NOG	OMIM:186570
HP:0100240	Synostosis of joints	9241	NOG	OMIM:185800
HP:0100240	Synostosis of joints	8200	GDF5	ORPHA:93388
HP:0100240	Synostosis of joints	658	BMPR1B	ORPHA:93388
HP:0100240	Synostosis of joints	54928	BPNT2	OMIM:614078
HP:0100240	Synostosis of joints	1836	SLC26A2	ORPHA:93307
HP:0100240	Synostosis of joints	2254	FGF9	OMIM:612961
HP:0100240	Synostosis of joints	6299	SALL1	OMIM:107480
HP:0100240	Synostosis of joints	6660	SOX5	ORPHA:313892
HP:0100240	Synostosis of joints	5727	PTCH1	ORPHA:377
HP:0100240	Synostosis of joints	5727	PTCH1	OMIM:109400
HP:0100240	Synostosis of joints	8643	PTCH2	ORPHA:377
HP:0100240	Synostosis of joints	51684	SUFU	ORPHA:377
HP:0100240	Synostosis of joints	4621	MYH3	OMIM:178110
HP:0100240	Synostosis of joints	2239	GPC4	ORPHA:373
HP:0100240	Synostosis of joints	2719	GPC3	ORPHA:373
HP:0100240	Synostosis of joints	79147	FKRP	OMIM:606612
HP:0100240	Synostosis of joints	79147	FKRP	OMIM:607155
HP:0100240	Synostosis of joints	2335	FN1	ORPHA:93315
HP:0100240	Synostosis of joints	54361	WNT4	ORPHA:3109
HP:0100240	Synostosis of joints	29123	ANKRD11	ORPHA:2332
HP:0100240	Synostosis of joints	29123	ANKRD11	OMIM:148050
HP:0100240	Synostosis of joints	284058	KANSL1	OMIM:610443
HP:0100240	Synostosis of joints	55191	NADSYN1	OMIM:618845
HP:0100240	Synostosis of joints	3081	HGD	OMIM:203500
HP:0100240	Synostosis of joints	54499	TMCO1	OMIM:213980
HP:0100240	Synostosis of joints	2317	FLNB	OMIM:272460
HP:0100240	Synostosis of joints	2317	FLNB	OMIM:150250
HP:0100240	Synostosis of joints	4089	SMAD4	OMIM:139210
HP:0100240	Synostosis of joints	4854	NOTCH3	OMIM:130720
HP:0100240	Synostosis of joints	22827	PUF60	OMIM:615583
HP:0100240	Synostosis of joints	84667	HES7	OMIM:613686
HP:0100240	Synostosis of joints	57167	SALL4	ORPHA:959
HP:0100240	Synostosis of joints	1146	CHRNG	OMIM:253290
HP:0100240	Synostosis of joints	1144	CHRND	OMIM:253290
HP:0100240	Synostosis of joints	1134	CHRNA1	OMIM:253290
HP:0100240	Synostosis of joints	53834	FGFRL1	OMIM:194190
HP:0100240	Synostosis of joints	1487	CTBP1	OMIM:194190
HP:0100240	Synostosis of joints	3954	LETM1	OMIM:194190
HP:0100240	Synostosis of joints	7468	NSD2	OMIM:194190
HP:0100240	Synostosis of joints	10815	CPLX1	OMIM:194190
HP:0100240	Synostosis of joints	4990	SIX6	OMIM:206900
HP:0100240	Synostosis of joints	6657	SOX2	OMIM:206900
HP:0100240	Synostosis of joints	6911	TBX6	OMIM:122600
HP:0100240	Synostosis of joints	10683	DLL3	OMIM:277300
HP:0100240	Synostosis of joints	145873	MESP2	OMIM:277300
HP:0100240	Synostosis of joints	5888	RAD51	ORPHA:238722
HP:0100240	Synostosis of joints	10126	DNAL4	ORPHA:238722
HP:0100240	Synostosis of joints	9423	NTN1	ORPHA:238722
HP:0100240	Synostosis of joints	1630	DCC	ORPHA:238722
HP:0100240	Synostosis of joints	5167	ENPP1	ORPHA:51608
HP:0100240	Synostosis of joints	368	ABCC6	ORPHA:51608
HP:0100240	Synostosis of joints	22943	DKK1	ORPHA:268882
HP:0100240	Synostosis of joints	6885	MAP3K7	OMIM:617137
HP:0100240	Synostosis of joints	6885	MAP3K7	ORPHA:1826
HP:0100240	Synostosis of joints	6885	MAP3K7	OMIM:157800
HP:0100240	Synostosis of joints	1108	CHD4	OMIM:617159
HP:0100240	Synostosis of joints	9939	RBM8A	ORPHA:3320
HP:0100240	Synostosis of joints	9939	RBM8A	OMIM:274000
HP:0100240	Synostosis of joints	55215	FANCI	OMIM:609053
HP:0100240	Synostosis of joints	3557	IL1RN	OMIM:612852
HP:0100240	Synostosis of joints	51729	WBP11	OMIM:619227
HP:0100240	Synostosis of joints	4222	MEOX1	OMIM:214300
HP:0100240	Synostosis of joints	23476	BRD4	ORPHA:199
HP:0100240	Synostosis of joints	9126	SMC3	ORPHA:199
HP:0100240	Synostosis of joints	8243	SMC1A	ORPHA:199
HP:0100240	Synostosis of joints	25836	NIPBL	ORPHA:199
HP:0100240	Synostosis of joints	55869	HDAC8	ORPHA:199
HP:0100240	Synostosis of joints	5885	RAD21	ORPHA:199
HP:0100240	Synostosis of joints	5885	RAD21	OMIM:614701
HP:0100240	Synostosis of joints	11285	B4GALT7	OMIM:130070
HP:0100240	Synostosis of joints	4091	SMAD6	OMIM:179300
HP:0100240	Synostosis of joints	10262	SF3B4	OMIM:154400
HP:0100240	Synostosis of joints	10262	SF3B4	ORPHA:1788
HP:0100240	Synostosis of joints	6910	TBX5	ORPHA:392
HP:0100240	Synostosis of joints	5648	MASP1	OMIM:257920
HP:0100240	Synostosis of joints	5648	MASP1	ORPHA:293843
HP:0100240	Synostosis of joints	6154	RPL26	OMIM:614900
HP:0100240	Synostosis of joints	6804	STX1A	ORPHA:904
HP:0100240	Synostosis of joints	7461	CLIP2	ORPHA:904
HP:0100240	Synostosis of joints	84277	DNAJC30	ORPHA:904
HP:0100240	Synostosis of joints	8468	FKBP6	ORPHA:904
HP:0100240	Synostosis of joints	5982	RFC2	ORPHA:904
HP:0100240	Synostosis of joints	2969	GTF2I	ORPHA:904
HP:0100240	Synostosis of joints	3984	LIMK1	ORPHA:904
HP:0100240	Synostosis of joints	9569	GTF2IRD1	ORPHA:904
HP:0100240	Synostosis of joints	155382	VPS37D	ORPHA:904
HP:0100240	Synostosis of joints	155368	METTL27	ORPHA:904
HP:0100240	Synostosis of joints	114049	BUD23	ORPHA:904
HP:0100240	Synostosis of joints	7458	EIF4H	ORPHA:904
HP:0100240	Synostosis of joints	84163	GTF2IRD2	ORPHA:904
HP:0100240	Synostosis of joints	9275	BCL7B	ORPHA:904
HP:0100240	Synostosis of joints	26608	TBL2	ORPHA:904
HP:0100240	Synostosis of joints	653361	NCF1	ORPHA:904
HP:0100240	Synostosis of joints	135886	TMEM270	ORPHA:904
HP:0100240	Synostosis of joints	51085	MLXIPL	ORPHA:904
HP:0100240	Synostosis of joints	51085	MLXIPL	OMIM:194050
HP:0100240	Synostosis of joints	9031	BAZ1B	ORPHA:904
HP:0100240	Synostosis of joints	2006	ELN	ORPHA:904
HP:0100240	Synostosis of joints	2006	ELN	OMIM:194050
HP:0100240	Synostosis of joints	2122	MECOM	ORPHA:71289
HP:0100240	Synostosis of joints	2122	MECOM	OMIM:616738
HP:0100240	Synostosis of joints	3207	HOXA11	ORPHA:71289
HP:0100240	Synostosis of joints	157570	ESCO2	ORPHA:3103
HP:0100240	Synostosis of joints	157570	ESCO2	ORPHA:2319
HP:0100240	Synostosis of joints	78989	COLEC11	OMIM:265050
HP:0100240	Synostosis of joints	78989	COLEC11	ORPHA:293843
HP:0100240	Synostosis of joints	54880	BCOR	OMIM:300166
HP:0100240	Synostosis of joints	54880	BCOR	ORPHA:2712
HP:0100240	Synostosis of joints	4094	MAF	ORPHA:1272
HP:0100240	Synostosis of joints	4094	MAF	OMIM:601088
HP:0100240	Synostosis of joints	29998	BICRA	OMIM:619325
HP:0100240	Synostosis of joints	23522	KAT6B	ORPHA:85201
HP:0100240	Synostosis of joints	23522	KAT6B	OMIM:606170
HP:0100240	Synostosis of joints	1723	DHODH	OMIM:263750
HP:0100240	Synostosis of joints	324	APC	ORPHA:3258
HP:0100240	Synostosis of joints	63895	PIEZO2	OMIM:248700
HP:0100240	Synostosis of joints	63895	PIEZO2	ORPHA:2461
HP:0100240	Synostosis of joints	10584	COLEC10	OMIM:248340
HP:0100240	Synostosis of joints	10584	COLEC10	ORPHA:293843
HP:0100240	Synostosis of joints	50945	TBX22	OMIM:302905
HP:0100240	Synostosis of joints	50945	TBX22	ORPHA:921
HP:0100240	Synostosis of joints	22800	RRAS2	ORPHA:648
HP:0100240	Synostosis of joints	867	CBL	ORPHA:648
HP:0100240	Synostosis of joints	8216	LZTR1	ORPHA:648
HP:0100240	Synostosis of joints	6016	RIT1	ORPHA:648
HP:0100240	Synostosis of joints	6237	RRAS	ORPHA:648
HP:0100240	Synostosis of joints	5894	RAF1	ORPHA:648
HP:0100240	Synostosis of joints	22808	MRAS	ORPHA:648
HP:0100240	Synostosis of joints	3845	KRAS	ORPHA:648
HP:0100240	Synostosis of joints	200734	SPRED2	ORPHA:648
HP:0100240	Synostosis of joints	4893	NRAS	ORPHA:648
HP:0100240	Synostosis of joints	6654	SOS1	ORPHA:648
HP:0100240	Synostosis of joints	6655	SOS2	ORPHA:648
HP:0100240	Synostosis of joints	5781	PTPN11	ORPHA:648
HP:0100240	Synostosis of joints	5922	RASA2	ORPHA:648
HP:0100240	Synostosis of joints	64131	XYLT1	ORPHA:1425
HP:0100240	Synostosis of joints	124583	CANT1	ORPHA:1425
HP:0100240	Synostosis of joints	55790	CSGALNACT1	ORPHA:1425
HP:0100240	Synostosis of joints	9469	CHST3	OMIM:245600
HP:0100240	Synostosis of joints	26229	B3GAT3	OMIM:245600
HP:0100240	Synostosis of joints	29980	DONSON	OMIM:617604
HP:0100240	Synostosis of joints	26040	SETBP1	ORPHA:798
HP:0100240	Synostosis of joints	6913	TBX15	OMIM:260660
HP:0100240	Synostosis of joints	6913	TBX15	ORPHA:93333
HP:0100240	Synostosis of joints	7476	WNT7A	ORPHA:2879
HP:0100240	Synostosis of joints	7476	WNT7A	OMIM:276820
HP:0100240	Synostosis of joints	56603	CYP26B1	OMIM:614416
HP:0100240	Synostosis of joints	7547	ZIC3	OMIM:306955
HP:0100240	Synostosis of joints	10992	SF3B2	OMIM:164210
HP:0100240	Synostosis of joints	1280	COL2A1	ORPHA:485
HP:0100240	Synostosis of joints	55252	ASXL2	OMIM:617190
HP:0100240	Synostosis of joints	27125	AFF4	ORPHA:444077
HP:0100240	Synostosis of joints	27125	AFF4	OMIM:616368
HP:0100240	Synostosis of joints	55870	ASH1L	OMIM:617796
HP:0100240	Synostosis of joints	7862	BRPF1	OMIM:617333
HP:0100240	Synostosis of joints	165	AEBP1	OMIM:618000
HP:0100240	Synostosis of joints	9573	GDF3	ORPHA:2345
HP:0100240	Synostosis of joints	84700	MYO18B	OMIM:616549
HP:0100240	Synostosis of joints	1009	CDH11	OMIM:211380
HP:0100240	Synostosis of joints	64359	NXN	ORPHA:1507
HP:0100240	Synostosis of joints	6469	SHH	ORPHA:988
HP:0100240	Synostosis of joints	3209	HOXA13	ORPHA:2438
HP:0100240	Synostosis of joints	5566	PRKACA	ORPHA:289
HP:0100240	Synostosis of joints	5567	PRKACB	ORPHA:289
HP:0100240	Synostosis of joints	2735	GLI1	ORPHA:289
HP:0100240	Synostosis of joints	2121	EVC	ORPHA:289
HP:0100240	Synostosis of joints	51626	DYNC2LI1	ORPHA:289
HP:0100240	Synostosis of joints	132884	EVC2	ORPHA:289
HP:0100240	Synostosis of joints	9555	MACROH2A1	ORPHA:1275
HP:0100240	Synostosis of joints	5307	PITX1	ORPHA:1275
HP:0100240	Synostosis of joints	7020	TFAP2A	OMIM:113620
HP:0100240	Synostosis of joints	51082	POLR1D	OMIM:613717
HP:0100240	Synostosis of joints	9935	MAFB	ORPHA:233
HP:0100240	Synostosis of joints	1123	CHN1	ORPHA:233
HP:0100240	Synostosis of joints	168667	BMPER	ORPHA:66637
HP:0100240	Synostosis of joints	2245	FGD1	ORPHA:915
HP:0100240	Synostosis of joints	81839	VANGL1	ORPHA:3027
HP:0100240	Synostosis of joints	80199	FUZ	ORPHA:3027
HP:0100240	Synostosis of joints	8823	FGF16	OMIM:309630
HP:0100240	Synostosis of joints	3239	HOXD13	OMIM:186300
HP:0100240	Synostosis of joints	9775	EIF4A3	OMIM:268305
HP:0100240	Synostosis of joints	2737	GLI3	ORPHA:93322
HP:0100240	Synostosis of joints	5447	POR	ORPHA:95699
HP:0100240	Synostosis of joints	9791	PTDSS1	OMIM:151050
HP:0100240	Synostosis of joints	145258	GSC	OMIM:602471
HP:0100240	Synostosis of joints	2316	FLNA	OMIM:305620
HP:0100240	Synostosis of joints	2260	FGFR1	OMIM:123150
HP:0100240	Synostosis of joints	2263	FGFR2	OMIM:123150
HP:0100240	Synostosis of joints	392255	GDF6	OMIM:617898
HP:0100240	Synostosis of joints	64327	LMBR1	ORPHA:2378
HP:0100240	Synostosis of joints	2261	FGFR3	ORPHA:53271
HP:0100240	Synostosis of joints	7140	TNNT3	ORPHA:1147
HP:0100240	Synostosis of joints	7169	TPM2	ORPHA:1147
HP:0100240	Synostosis of joints	259232	NALCN	ORPHA:1147
HP:0100240	Synostosis of joints	7136	TNNI2	ORPHA:1147
HP:0100240	Synostosis of joints	9496	TBX4	OMIM:147891
HP:0100240	Synostosis of joints	8195	MKKS	ORPHA:2473
HP:0100240	Synostosis of joints	8481	OFD1	ORPHA:2750
HP:0100240	Synostosis of joints	64093	SMOC1	ORPHA:1106
HP:0100240	Synostosis of joints	538	ATP7A	ORPHA:565
HP:0100240	Synostosis of joints	2192	FBLN1	OMIM:608180
HP:0100240	Synostosis of joints	90	ACVR1	OMIM:135100
HP:0100240	Synostosis of joints	4920	ROR2	OMIM:268310
HP:0100240	Synostosis of joints	727857	BHLHA9	OMIM:609432
HP:0100240	Synostosis of joints	7021	TFAP2B	OMIM:169100
HP:0100240	Synostosis of joints	10084	PQBP1	OMIM:309500
HP:0100240	Synostosis of joints	9401	RECQL4	ORPHA:221016
HP:0100240	Synostosis of joints	64682	ANAPC1	ORPHA:221008
HP:0100240	Synostosis of joints	4038	LRP4	OMIM:212780
HP:0100240	Synostosis of joints	7291	TWIST1	ORPHA:35099
HP:0100240	Synostosis of joints	6938	TCF12	ORPHA:35099
HP:0100240	Synostosis of joints	7545	ZIC1	ORPHA:35099
HP:0100240	Synostosis of joints	85301	COL27A1	OMIM:615155
HP:0100240	Synostosis of joints	5077	PAX3	OMIM:148820
HP:0100240	Synostosis of joints	126792	B3GALT6	OMIM:615349
HP:0100240	Synostosis of joints	126792	B3GALT6	OMIM:271640
HP:0100240	Synostosis of joints	4841	NONO	ORPHA:466791
HP:0100240	Synostosis of joints	54101	RIPK4	ORPHA:1234
HP:0100240	Synostosis of joints	5745	PTH1R	ORPHA:50945
HP:0100240	Synostosis of joints	5116	PCNT	OMIM:210720
HP:0100240	Synostosis of joints	22856	CHSY1	ORPHA:363417
HP:0100240	Synostosis of joints	51776	MAP3K20	ORPHA:488232
HP:0100242	Sarcoma	6654	SOS1	OMIM:135300
HP:0100242	Sarcoma	6654	SOS1	ORPHA:2024
HP:0100242	Sarcoma	1718	DHCR24	OMIM:602398
HP:0100242	Sarcoma	118429	ANTXR2	OMIM:228600
HP:0100242	Sarcoma	118429	ANTXR2	ORPHA:2028
HP:0100242	Sarcoma	23461	ABCA5	OMIM:135400
HP:0100242	Sarcoma	23461	ABCA5	ORPHA:2026
HP:0100242	Sarcoma	54757	FAM20A	OMIM:204690
HP:0100242	Sarcoma	3756	KCNH1	OMIM:135500
HP:0100242	Sarcoma	3756	KCNH1	ORPHA:3473
HP:0100242	Sarcoma	63916	ELMO2	ORPHA:3019
HP:0100242	Sarcoma	5978	REST	ORPHA:2024
HP:0100242	Sarcoma	5978	REST	OMIM:617626
HP:0100242	Sarcoma	526	ATP6V1B2	ORPHA:3473
HP:0100242	Sarcoma	3782	KCNN3	ORPHA:3473
HP:0100242	Sarcoma	56975	FAM20C	ORPHA:1832
HP:0100242	Sarcoma	3815	KIT	OMIM:606764
HP:0100242	Sarcoma	6711	SPTBN1	OMIM:619475
HP:0100242	Sarcoma	161742	SPRED1	OMIM:611431
HP:0100242	Sarcoma	161742	SPRED1	ORPHA:137605
HP:0100242	Sarcoma	8314	BAP1	ORPHA:2495
HP:0100242	Sarcoma	4771	NF2	ORPHA:2495
HP:0100242	Sarcoma	6598	SMARCB1	ORPHA:2495
HP:0100242	Sarcoma	5155	PDGFB	ORPHA:2495
HP:0100242	Sarcoma	84231	TRAF7	ORPHA:2495
HP:0100242	Sarcoma	6608	SMO	ORPHA:2495
HP:0100242	Sarcoma	7015	TERT	ORPHA:2495
HP:0100242	Sarcoma	51684	SUFU	ORPHA:2495
HP:0100242	Sarcoma	6605	SMARCE1	ORPHA:2495
HP:0100242	Sarcoma	4035	LRP1	ORPHA:79100
HP:0100242	Sarcoma	9401	RECQL4	OMIM:268400
HP:0100242	Sarcoma	9401	RECQL4	ORPHA:1225
HP:0100242	Sarcoma	9401	RECQL4	ORPHA:221016
HP:0100242	Sarcoma	55027	HEATR3	OMIM:620072
HP:0100242	Sarcoma	6135	RPL11	ORPHA:124
HP:0100242	Sarcoma	6138	RPL15	ORPHA:124
HP:0100242	Sarcoma	6229	RPS24	ORPHA:124
HP:0100242	Sarcoma	6125	RPL5	ORPHA:124
HP:0100242	Sarcoma	6204	RPS10	ORPHA:124
HP:0100242	Sarcoma	6224	RPS20	ORPHA:124
HP:0100242	Sarcoma	6165	RPL35A	ORPHA:124
HP:0100242	Sarcoma	2623	GATA1	ORPHA:124
HP:0100242	Sarcoma	6223	RPS19	ORPHA:124
HP:0100242	Sarcoma	6223	RPS19	OMIM:105650
HP:0100242	Sarcoma	6232	RPS27	ORPHA:124
HP:0100242	Sarcoma	6231	RPS26	ORPHA:124
HP:0100242	Sarcoma	11224	RPL35	ORPHA:124
HP:0100242	Sarcoma	6160	RPL31	ORPHA:124
HP:0100242	Sarcoma	6218	RPS17	ORPHA:124
HP:0100242	Sarcoma	6201	RPS7	ORPHA:124
HP:0100242	Sarcoma	6155	RPL27	ORPHA:124
HP:0100242	Sarcoma	6154	RPL26	ORPHA:124
HP:0100242	Sarcoma	6210	RPS15A	ORPHA:124
HP:0100242	Sarcoma	90121	TSR2	ORPHA:124
HP:0100242	Sarcoma	6141	RPL18	ORPHA:124
HP:0100242	Sarcoma	6235	RPS29	ORPHA:124
HP:0100242	Sarcoma	6234	RPS28	ORPHA:124
HP:0100242	Sarcoma	51816	ADA2	ORPHA:124
HP:0100242	Sarcoma	8878	SQSTM1	OMIM:167250
HP:0100242	Sarcoma	4000	LMNA	ORPHA:79474
HP:0100242	Sarcoma	64682	ANAPC1	ORPHA:221008
HP:0100242	Sarcoma	23405	DICER1	OMIM:601200
HP:0100242	Sarcoma	5727	PTCH1	ORPHA:77301
HP:0100242	Sarcoma	4763	NF1	OMIM:162200
HP:0100242	Sarcoma	4763	NF1	ORPHA:97685
HP:0100242	Sarcoma	9184	BUB3	ORPHA:1052
HP:0100242	Sarcoma	699	BUB1	ORPHA:1052
HP:0100242	Sarcoma	9702	CEP57	ORPHA:1052
HP:0100242	Sarcoma	9319	TRIP13	ORPHA:1052
HP:0100242	Sarcoma	701	BUB1B	ORPHA:1052
HP:0100242	Sarcoma	4683	NBN	OMIM:251260
HP:0100242	Sarcoma	4683	NBN	ORPHA:647
HP:0100242	Sarcoma	4157	MC1R	ORPHA:626
HP:0100242	Sarcoma	7157	TP53	ORPHA:524
HP:0100242	Sarcoma	1029	CDKN2A	ORPHA:524
HP:0100242	Sarcoma	4193	MDM2	ORPHA:524
HP:0100242	Sarcoma	11200	CHEK2	ORPHA:524
HP:0100242	Sarcoma	6714	SRC	OMIM:114500
HP:0100242	Sarcoma	10395	DLC1	OMIM:114500
HP:0100242	Sarcoma	8313	AXIN2	OMIM:114500
HP:0100242	Sarcoma	2033	EP300	OMIM:114500
HP:0100242	Sarcoma	5782	PTPN12	OMIM:114500
HP:0100242	Sarcoma	5320	PLA2G2A	OMIM:114500
HP:0100242	Sarcoma	6790	AURKA	OMIM:114500
HP:0100242	Sarcoma	1630	DCC	OMIM:114500
HP:0100242	Sarcoma	27030	MLH3	OMIM:114500
HP:0100242	Sarcoma	581	BAX	OMIM:114500
HP:0100242	Sarcoma	25788	RAD54B	OMIM:114500
HP:0100242	Sarcoma	595	CCND1	OMIM:114500
HP:0100242	Sarcoma	2261	FGFR3	OMIM:114500
HP:0100242	Sarcoma	7097	TLR2	OMIM:114500
HP:0100242	Sarcoma	324	APC	OMIM:114500
HP:0100242	Sarcoma	1499	CTNNB1	OMIM:114500
HP:0100242	Sarcoma	4163	MCC	OMIM:114500
HP:0100242	Sarcoma	5157	PDGFRL	OMIM:114500
HP:0100242	Sarcoma	5795	PTPRJ	OMIM:114500
HP:0100242	Sarcoma	673	BRAF	OMIM:114500
HP:0100242	Sarcoma	5002	SLC22A18	OMIM:268210
HP:0100242	Sarcoma	2271	FH	OMIM:150800
HP:0100242	Sarcoma	201163	FLCN	OMIM:135150
HP:0100242	Sarcoma	2131	EXT1	ORPHA:321
HP:0100242	Sarcoma	2131	EXT1	OMIM:133700
HP:0100242	Sarcoma	2131	EXT1	OMIM:215300
HP:0100242	Sarcoma	2132	EXT2	ORPHA:321
HP:0100242	Sarcoma	2132	EXT2	OMIM:133701
HP:0100242	Sarcoma	8148	TAF15	OMIM:612237
HP:0100242	Sarcoma	8013	NR4A3	OMIM:612237
HP:0100242	Sarcoma	5081	PAX7	OMIM:268220
HP:0100242	Sarcoma	2308	FOXO1	OMIM:268220
HP:0100242	Sarcoma	5077	PAX3	OMIM:268220
HP:0100242	Sarcoma	9817	KEAP1	ORPHA:276399
HP:0100242	Sarcoma	4292	MLH1	OMIM:158320
HP:0100242	Sarcoma	4292	MLH1	ORPHA:587
HP:0100242	Sarcoma	4436	MSH2	OMIM:158320
HP:0100242	Sarcoma	4436	MSH2	ORPHA:587
HP:0100242	Sarcoma	3265	HRAS	ORPHA:2612
HP:0100242	Sarcoma	3845	KRAS	ORPHA:2612
HP:0100242	Sarcoma	4893	NRAS	ORPHA:2612
HP:0100242	Sarcoma	7249	TSC2	OMIM:613254
HP:0100242	Sarcoma	3458	IFNG	OMIM:613254
HP:0100242	Sarcoma	2956	MSH6	ORPHA:587
HP:0100242	Sarcoma	10483	SEC23B	ORPHA:201
HP:0100242	Sarcoma	5728	PTEN	ORPHA:201
HP:0100242	Sarcoma	6390	SDHB	ORPHA:201
HP:0100242	Sarcoma	6392	SDHD	ORPHA:201
HP:0100242	Sarcoma	6391	SDHC	ORPHA:201
HP:0100242	Sarcoma	207	AKT1	ORPHA:201
HP:0100242	Sarcoma	205717	USF3	ORPHA:201
HP:0100242	Sarcoma	5290	PIK3CA	ORPHA:201
HP:0100242	Sarcoma	100144748	KLLN	ORPHA:201
HP:0100242	Sarcoma	5333	PLCD1	ORPHA:2387
HP:0100242	Sarcoma	7248	TSC1	OMIM:191100
HP:0100242	Sarcoma	4221	MEN1	OMIM:131100
HP:0100242	Sarcoma	3872	KRT17	ORPHA:841
HP:0100242	Sarcoma	5159	PDGFRB	OMIM:228550
HP:0100242	Sarcoma	5159	PDGFRB	ORPHA:2591
HP:0100242	Sarcoma	2316	FLNA	OMIM:300244
HP:0100242	Sarcoma	79577	CDC73	ORPHA:143
HP:0100242	Sarcoma	79577	CDC73	ORPHA:99880
HP:0100242	Sarcoma	4854	NOTCH3	ORPHA:2591
HP:0100242	Sarcoma	1288	COL4A6	ORPHA:1018
HP:0100242	Sarcoma	1287	COL4A5	ORPHA:1018
HP:0100242	Sarcoma	3572	IL6ST	OMIM:619750
HP:0100242	Sarcoma	1027	CDKN1B	ORPHA:652
HP:0100242	Sarcoma	1027	CDKN1B	ORPHA:276152
HP:0100242	Sarcoma	1026	CDKN1A	ORPHA:652
HP:0100242	Sarcoma	1030	CDKN2B	ORPHA:652
HP:0100242	Sarcoma	1031	CDKN2C	ORPHA:652
HP:0100242	Sarcoma	5618	PRLR	OMIM:615554
HP:0100242	Sarcoma	5566	PRKACA	ORPHA:189439
HP:0100242	Sarcoma	8622	PDE8B	ORPHA:189439
HP:0100242	Sarcoma	5573	PRKAR1A	ORPHA:189439
HP:0100242	Sarcoma	5573	PRKAR1A	ORPHA:1359
HP:0100242	Sarcoma	50940	PDE11A	ORPHA:189439
HP:0100242	Sarcoma	50940	PDE11A	ORPHA:1359
HP:0100242	Sarcoma	355	FAS	ORPHA:3261
HP:0100242	Sarcoma	356	FASLG	ORPHA:3261
HP:0100242	Sarcoma	5580	PRKCD	ORPHA:3261
HP:0100242	Sarcoma	843	CASP10	ORPHA:3261
HP:0100242	Sarcoma	10125	RASGRP1	ORPHA:3261
HP:0100242	Sarcoma	79058	ASPSCR1	OMIM:606243
HP:0100242	Sarcoma	5925	RB1	OMIM:180200
HP:0100242	Sarcoma	2130	EWSR1	OMIM:612219
HP:0100242	Sarcoma	23476	BRD4	ORPHA:443167
HP:0100242	Sarcoma	256646	NUTM1	ORPHA:443167
HP:0100242	Sarcoma	6757	SSX2	OMIM:300813
HP:0100242	Sarcoma	89970	RSPRY1	ORPHA:457395
HP:0100242	Sarcoma	5745	PTH1R	ORPHA:296
HP:0100242	Sarcoma	3418	IDH2	ORPHA:296
HP:0100242	Sarcoma	3418	IDH2	ORPHA:163634
HP:0100242	Sarcoma	3417	IDH1	ORPHA:296
HP:0100242	Sarcoma	3417	IDH1	ORPHA:163634
HP:0100242	Sarcoma	7490	WT1	ORPHA:83469
HP:0100242	Sarcoma	6389	SDHA	ORPHA:44890
HP:0100242	Sarcoma	5156	PDGFRA	ORPHA:44890
HP:0100242	Sarcoma	8200	GDF5	ORPHA:2098
HP:0100242	Sarcoma	658	BMPR1B	ORPHA:2098
HP:0100242	Sarcoma	7486	WRN	ORPHA:902
HP:0100242	Sarcoma	2778	GNAS	ORPHA:2762
HP:0100242	Sarcoma	2303	FOXC2	ORPHA:33001
HP:0100242	Sarcoma	1277	COL1A1	ORPHA:31112
HP:0100242	Sarcoma	4507	MTAP	OMIM:112250
HP:0100242	Sarcoma	4595	MUTYH	ORPHA:247798
HP:0100242	Sarcoma	26585	GREM1	ORPHA:157794
HP:0100242	Sarcoma	657	BMPR1A	ORPHA:157794
HP:0100242	Sarcoma	5604	MAP2K1	OMIM:163950
HP:0100242	Sarcoma	5781	PTPN11	OMIM:163950
HP:0100242	Sarcoma	2324	FLT4	ORPHA:79452
HP:0100242	Sarcoma	57165	GJC2	ORPHA:79452
HP:0100242	Sarcoma	2050	EPHB4	ORPHA:90186
HP:0100244	Fibrosarcoma	324	APC	ORPHA:247806
HP:0100244	Fibrosarcoma	324	APC	ORPHA:79665
HP:0100244	Fibrosarcoma	2303	FOXC2	ORPHA:33001
HP:0100244	Fibrosarcoma	1277	COL1A1	ORPHA:31112
HP:0100244	Fibrosarcoma	5155	PDGFB	ORPHA:31112
HP:0100244	Fibrosarcoma	4507	MTAP	OMIM:112250
HP:0100244	Fibrosarcoma	4595	MUTYH	ORPHA:247798
HP:0100244	Fibrosarcoma	1499	CTNNB1	ORPHA:873
HP:0100244	Fibrosarcoma	161742	SPRED1	ORPHA:137605
HP:0100244	Fibrosarcoma	26585	GREM1	ORPHA:157794
HP:0100244	Fibrosarcoma	657	BMPR1A	ORPHA:157794
HP:0100245	Desmoid tumors	4595	MUTYH	ORPHA:247798
HP:0100245	Desmoid tumors	1499	CTNNB1	ORPHA:873
HP:0100245	Desmoid tumors	324	APC	ORPHA:873
HP:0100245	Desmoid tumors	324	APC	ORPHA:99818
HP:0100245	Desmoid tumors	324	APC	OMIM:175100
HP:0100245	Desmoid tumors	324	APC	ORPHA:247806
HP:0100245	Desmoid tumors	324	APC	ORPHA:261584
HP:0100245	Desmoid tumors	324	APC	OMIM:135290
HP:0100245	Desmoid tumors	324	APC	ORPHA:79665
HP:0100245	Desmoid tumors	161742	SPRED1	ORPHA:137605
HP:0100245	Desmoid tumors	26585	GREM1	ORPHA:157794
HP:0100245	Desmoid tumors	657	BMPR1A	ORPHA:157794
HP:0100246	Osteoma	324	APC	OMIM:175100
HP:0100246	Osteoma	324	APC	ORPHA:247806
HP:0100246	Osteoma	324	APC	ORPHA:261584
HP:0100246	Osteoma	324	APC	ORPHA:79665
HP:0100247	Recurrent singultus	2731	GLDC	OMIM:605899
HP:0100247	Recurrent singultus	275	AMT	OMIM:605899
HP:0100248	Hemiballismus	29960	MRM2	OMIM:618567
HP:0100248	Hemiballismus	5610	EIF2AK2	OMIM:618877
HP:0100248	Hemiballismus	10846	PDE10A	OMIM:616921
HP:0100248	Hemiballismus	10846	PDE10A	ORPHA:494526
HP:0100248	Hemiballismus	6857	SYT1	ORPHA:522077
HP:0100243	Leiomyosarcoma	6714	SRC	OMIM:114500
HP:0100243	Leiomyosarcoma	201163	FLCN	OMIM:114500
HP:0100243	Leiomyosarcoma	10395	DLC1	OMIM:114500
HP:0100243	Leiomyosarcoma	11200	CHEK2	OMIM:114500
HP:0100243	Leiomyosarcoma	8313	AXIN2	OMIM:114500
HP:0100243	Leiomyosarcoma	5290	PIK3CA	OMIM:114500
HP:0100243	Leiomyosarcoma	2033	EP300	OMIM:114500
HP:0100243	Leiomyosarcoma	5782	PTPN12	OMIM:114500
HP:0100243	Leiomyosarcoma	5320	PLA2G2A	OMIM:114500
HP:0100243	Leiomyosarcoma	6790	AURKA	OMIM:114500
HP:0100243	Leiomyosarcoma	1630	DCC	OMIM:114500
HP:0100243	Leiomyosarcoma	27030	MLH3	OMIM:114500
HP:0100243	Leiomyosarcoma	581	BAX	OMIM:114500
HP:0100243	Leiomyosarcoma	25788	RAD54B	OMIM:114500
HP:0100243	Leiomyosarcoma	595	CCND1	OMIM:114500
HP:0100243	Leiomyosarcoma	699	BUB1	OMIM:114500
HP:0100243	Leiomyosarcoma	701	BUB1B	OMIM:114500
HP:0100243	Leiomyosarcoma	2261	FGFR3	OMIM:114500
HP:0100243	Leiomyosarcoma	7097	TLR2	OMIM:114500
HP:0100243	Leiomyosarcoma	4893	NRAS	OMIM:114500
HP:0100243	Leiomyosarcoma	324	APC	OMIM:114500
HP:0100243	Leiomyosarcoma	1499	CTNNB1	OMIM:114500
HP:0100243	Leiomyosarcoma	7157	TP53	OMIM:114500
HP:0100243	Leiomyosarcoma	4163	MCC	OMIM:114500
HP:0100243	Leiomyosarcoma	207	AKT1	OMIM:114500
HP:0100243	Leiomyosarcoma	5157	PDGFRL	OMIM:114500
HP:0100243	Leiomyosarcoma	5795	PTPRJ	OMIM:114500
HP:0100243	Leiomyosarcoma	673	BRAF	OMIM:114500
HP:0100243	Leiomyosarcoma	2271	FH	OMIM:150800
HP:0100243	Leiomyosarcoma	2271	FH	ORPHA:523
HP:0004950	Peripheral arterial stenosis	3949	LDLR	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	255738	PCSK9	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	26119	LDLRAP1	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	338	APOB	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	64240	ABCG5	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	64241	ABCG8	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	2006	ELN	OMIM:185500
HP:0004950	Peripheral arterial stenosis	2006	ELN	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4352	MPL	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	7066	THPO	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	3717	JAK2	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	3423	IDS	ORPHA:217085
HP:0004950	Peripheral arterial stenosis	3423	IDS	ORPHA:217093
HP:0004950	Peripheral arterial stenosis	189	AGXT	OMIM:259900
HP:0004950	Peripheral arterial stenosis	4629	MYH11	ORPHA:229
HP:0004950	Peripheral arterial stenosis	4629	MYH11	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4000	LMNA	ORPHA:79474
HP:0004950	Peripheral arterial stenosis	7046	TGFBR1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7048	TGFBR2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4015	LOX	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4087	SMAD2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7043	TGFB3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4088	SMAD3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7042	TGFB2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4089	SMAD4	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	2200	FBN1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	59	ACTA2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	5592	PRKG1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	2301	FOXE3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4144	MAT2A	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	23493	HEY2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	8076	MFAP5	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4638	MYLK	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	348	APOE	ORPHA:412
HP:0004950	Peripheral arterial stenosis	368	ABCC6	OMIM:177850
HP:0005297	Premature occlusive vascular stenosis	368	ABCC6	OMIM:177850
HP:0005294	Arterial dissection	1277	COL1A1	ORPHA:287
HP:0005294	Arterial dissection	1289	COL5A1	ORPHA:287
HP:0005294	Arterial dissection	1290	COL5A2	ORPHA:287
HP:0005294	Arterial dissection	4088	SMAD3	ORPHA:284984
HP:0005294	Arterial dissection	1281	COL3A1	ORPHA:286
HP:0005294	Arterial dissection	7046	TGFBR1	ORPHA:60030
HP:0005294	Arterial dissection	10526	IPO8	ORPHA:60030
HP:0005294	Arterial dissection	7048	TGFBR2	ORPHA:60030
HP:0005294	Arterial dissection	5351	PLOD1	ORPHA:1900
HP:0005293	Venous insufficiency	1281	COL3A1	OMIM:130050
HP:0005293	Venous insufficiency	1281	COL3A1	OMIM:618343
HP:0005293	Venous insufficiency	1281	COL3A1	ORPHA:286
HP:0005293	Venous insufficiency	7428	VHL	OMIM:263400
HP:0005293	Venous insufficiency	2629	GBA1	ORPHA:2072
HP:0005293	Venous insufficiency	9158	FIBP	ORPHA:500095
HP:0005293	Venous insufficiency	9158	FIBP	OMIM:617107
HP:0005293	Venous insufficiency	9780	PIEZO1	OMIM:616843
HP:0005293	Venous insufficiency	92579	G6PC3	OMIM:612541
HP:0005293	Venous insufficiency	4088	SMAD3	OMIM:613795
HP:0005293	Venous insufficiency	4087	SMAD2	OMIM:619656
HP:0005293	Venous insufficiency	5921	RASA1	ORPHA:90307
HP:0005293	Venous insufficiency	2303	FOXC2	ORPHA:33001
HP:0005293	Venous insufficiency	2303	FOXC2	OMIM:153400
HP:0005293	Venous insufficiency	2050	EPHB4	ORPHA:90186
HP:0005293	Venous insufficiency	2050	EPHB4	OMIM:617300
HP:0005293	Venous insufficiency	1312	COMT	ORPHA:567
HP:0005293	Venous insufficiency	221037	JMJD1C	ORPHA:567
HP:0005293	Venous insufficiency	2812	GP1BB	ORPHA:567
HP:0005293	Venous insufficiency	6239	RREB1	ORPHA:567
HP:0005293	Venous insufficiency	6899	TBX1	ORPHA:567
HP:0005293	Venous insufficiency	7290	HIRA	ORPHA:567
HP:0005293	Venous insufficiency	9632	SEC24C	ORPHA:567
HP:0005293	Venous insufficiency	7353	UFD1	ORPHA:567
HP:0005293	Venous insufficiency	421	ARVCF	ORPHA:567
HP:0005293	Venous insufficiency	55315	SLC29A3	OMIM:602782
HP:0005293	Venous insufficiency	55315	SLC29A3	ORPHA:168569
HP:0005293	Venous insufficiency	3798	KIF5A	ORPHA:100991
HP:0005293	Venous insufficiency	5290	PIK3CA	OMIM:613089
HP:0005293	Venous insufficiency	2324	FLT4	ORPHA:79452
HP:0005293	Venous insufficiency	57165	GJC2	ORPHA:79452
HP:0005293	Venous insufficiency	165	AEBP1	ORPHA:536532
HP:0005293	Venous insufficiency	1188	CLCNKB	ORPHA:358
HP:0005293	Venous insufficiency	6559	SLC12A3	ORPHA:358
HP:0005293	Venous insufficiency	4854	NOTCH3	OMIM:125310
HP:0005293	Venous insufficiency	2022	ENG	OMIM:187300
HP:0005293	Venous insufficiency	538	ATP7A	ORPHA:565
HP:0005293	Venous insufficiency	538	ATP7A	ORPHA:198
HP:0005293	Venous insufficiency	5728	PTEN	ORPHA:2969
HP:0005293	Venous insufficiency	5728	PTEN	ORPHA:137608
HP:0005293	Venous insufficiency	55109	AGGF1	ORPHA:90308
HP:0005293	Venous insufficiency	4693	NDP	ORPHA:649
HP:0005293	Venous insufficiency	5627	PROS1	ORPHA:743
HP:0005293	Venous insufficiency	5624	PROC	ORPHA:745
HP:0005293	Venous insufficiency	2776	GNAQ	ORPHA:624
HP:0005293	Venous insufficiency	64093	SMOC1	ORPHA:1106
HP:0005292	Intimal thickening in the coronary arteries	2720	GLB1	OMIM:253010
HP:0005290	Internal carotid artery hypoplasia	4010	LMX1B	ORPHA:2614
HP:0005290	Internal carotid artery hypoplasia	3198	HOXA1	OMIM:601536
HP:0005275	Cartilaginous ossification of nose	4256	MGP	OMIM:245150
HP:0005274	Prominent nasal tip	3763	KCNJ6	ORPHA:435628
HP:0005274	Prominent nasal tip	23013	SPEN	OMIM:619312
HP:0005274	Prominent nasal tip	26038	CHD5	OMIM:619873
HP:0005274	Prominent nasal tip	1139	CHRNA7	ORPHA:199318
HP:0005274	Prominent nasal tip	5530	PPP3CA	OMIM:617711
HP:0005274	Prominent nasal tip	26053	AUTS2	OMIM:615834
HP:0005274	Prominent nasal tip	26053	AUTS2	ORPHA:352490
HP:0005274	Prominent nasal tip	81857	MED25	ORPHA:464738
HP:0005274	Prominent nasal tip	201163	FLCN	OMIM:610883
HP:0005274	Prominent nasal tip	83987	CCDC8	OMIM:614205
HP:0005274	Prominent nasal tip	23363	OBSL1	OMIM:612921
HP:0005274	Prominent nasal tip	9839	ZEB2	OMIM:235730
HP:0005274	Prominent nasal tip	283209	PGM2L1	OMIM:620191
HP:0005274	Prominent nasal tip	7703	PCGF2	OMIM:618371
HP:0005274	Prominent nasal tip	80232	WDR26	ORPHA:513456
HP:0005274	Prominent nasal tip	8567	MADD	OMIM:619004
HP:0005274	Prominent nasal tip	6857	SYT1	ORPHA:522077
HP:0005274	Prominent nasal tip	6857	SYT1	OMIM:618218
HP:0005274	Prominent nasal tip	29998	BICRA	OMIM:619325
HP:0005274	Prominent nasal tip	5567	PRKACB	OMIM:619143
HP:0005274	Prominent nasal tip	53335	BCL11A	OMIM:617101
HP:0005274	Prominent nasal tip	55790	CSGALNACT1	OMIM:618870
HP:0005274	Prominent nasal tip	5144	PDE4D	ORPHA:439822
HP:0005274	Prominent nasal tip	1806	DPYD	ORPHA:1675
HP:0005273	Absent nasal septal cartilage	5727	PTCH1	OMIM:610828
HP:0005273	Absent nasal septal cartilage	7050	TGIF1	OMIM:142946
HP:0005273	Absent nasal septal cartilage	6496	SIX3	OMIM:157170
HP:0031152	Full-thickness macular hole	5961	PRPH2	ORPHA:75377
HP:0031152	Full-thickness macular hole	3000	GUCY2D	ORPHA:75377
HP:0031152	Full-thickness macular hole	2978	GUCA1A	ORPHA:75377
HP:0031153	Membranous vitreous appearance	1280	COL2A1	OMIM:108300
HP:0031156	Decreased platelet glycoprotein Ib	10559	SLC35A1	OMIM:603585
HP:0031157	Carotid cavernous fistula	1281	COL3A1	OMIM:130050
HP:0031158	Widened atrophic scar	165	AEBP1	ORPHA:536532
HP:0031158	Widened atrophic scar	5351	PLOD1	ORPHA:1900
HP:0031159	Thinning of Descemet membrane	58495	OVOL2	OMIM:122000
HP:0031159	Thinning of Descemet membrane	1545	CYP1B1	ORPHA:708
HP:0031159	Thinning of Descemet membrane	5080	PAX6	ORPHA:708
HP:0031159	Thinning of Descemet membrane	2301	FOXE3	ORPHA:708
HP:0031159	Thinning of Descemet membrane	5308	PITX2	ORPHA:708
HP:0031159	Thinning of Descemet membrane	2296	FOXC1	ORPHA:708
HP:0100251	Multiple central nervous system lipomas	257	ALX3	OMIM:136760
HP:0100251	Multiple central nervous system lipomas	257	ALX3	ORPHA:391474
HP:0100251	Multiple central nervous system lipomas	8092	ALX1	ORPHA:306542
HP:0100251	Multiple central nervous system lipomas	57688	ZSWIM6	OMIM:603671
HP:0100251	Multiple central nervous system lipomas	2260	FGFR1	OMIM:613001
HP:0100252	Diaphyseal dysplasia	79639	TMEM53	OMIM:619727
HP:0100252	Diaphyseal dysplasia	55858	TMEM165	OMIM:614727
HP:0100252	Diaphyseal dysplasia	161742	SPRED1	ORPHA:137605
HP:0100252	Diaphyseal dysplasia	6916	TBXAS1	OMIM:231095
HP:0100252	Diaphyseal dysplasia	4763	NF1	ORPHA:97685
HP:0100250	Meningeal calcification	1301	COL11A1	OMIM:154780
HP:0100256	Senile plaques	348	APOE	OMIM:606889
HP:0100256	Senile plaques	5664	PSEN2	OMIM:606889
HP:0100256	Senile plaques	5621	PRNP	ORPHA:282166
HP:0100256	Senile plaques	4137	MAPT	OMIM:601104
HP:0100256	Senile plaques	4137	MAPT	ORPHA:100070
HP:0100256	Senile plaques	25978	CHMP2B	ORPHA:100070
HP:0100256	Senile plaques	5663	PSEN1	ORPHA:100070
HP:0100256	Senile plaques	2896	GRN	ORPHA:100070
HP:0100256	Senile plaques	54664	TMEM106B	ORPHA:100070
HP:0100256	Senile plaques	54209	TREM2	ORPHA:100070
HP:0100256	Senile plaques	7415	VCP	ORPHA:100070
HP:0100256	Senile plaques	10347	ABCA7	OMIM:608907
HP:0100253	Abnormality of the medullary cavity of the long bones	63901	FAM111A	OMIM:127000
HP:0100253	Abnormality of the medullary cavity of the long bones	4507	MTAP	OMIM:112250
HP:0100253	Abnormality of the medullary cavity of the long bones	6905	TBCE	ORPHA:93324
HP:0100254	Stenosis of the medullary cavity of the long bones	4507	MTAP	OMIM:112250
HP:0100254	Stenosis of the medullary cavity of the long bones	6905	TBCE	ORPHA:93324
HP:0100254	Stenosis of the medullary cavity of the long bones	63901	FAM111A	ORPHA:93325
HP:0100259	Postaxial polydactyly	2737	GLI3	ORPHA:672
HP:0100259	Postaxial polydactyly	2737	GLI3	ORPHA:36
HP:0100259	Postaxial polydactyly	2737	GLI3	ORPHA:380
HP:0100259	Postaxial polydactyly	2737	GLI3	OMIM:146510
HP:0100259	Postaxial polydactyly	2737	GLI3	OMIM:175700
HP:0100259	Postaxial polydactyly	2737	GLI3	OMIM:174200
HP:0100259	Postaxial polydactyly	6309	SC5D	ORPHA:46059
HP:0100259	Postaxial polydactyly	6309	SC5D	OMIM:607330
HP:0100259	Postaxial polydactyly	894	CCND2	ORPHA:83473
HP:0100259	Postaxial polydactyly	894	CCND2	OMIM:615938
HP:0100259	Postaxial polydactyly	10000	AKT3	ORPHA:83473
HP:0100259	Postaxial polydactyly	10000	AKT3	OMIM:615937
HP:0100259	Postaxial polydactyly	4750	NEK1	OMIM:263520
HP:0100259	Postaxial polydactyly	4750	NEK1	ORPHA:2751
HP:0100259	Postaxial polydactyly	54585	LZTFL1	OMIM:615994
HP:0100259	Postaxial polydactyly	54585	LZTFL1	ORPHA:110
HP:0100259	Postaxial polydactyly	51259	TMEM216	OMIM:608091
HP:0100259	Postaxial polydactyly	51259	TMEM216	OMIM:603194
HP:0100259	Postaxial polydactyly	51259	TMEM216	ORPHA:564
HP:0100259	Postaxial polydactyly	56623	INPP5E	OMIM:213300
HP:0100259	Postaxial polydactyly	56623	INPP5E	ORPHA:1454
HP:0100259	Postaxial polydactyly	55593	OTUD5	OMIM:301056
HP:0100259	Postaxial polydactyly	374654	KIF7	ORPHA:36
HP:0100259	Postaxial polydactyly	374654	KIF7	OMIM:200990
HP:0100259	Postaxial polydactyly	374654	KIF7	OMIM:614120
HP:0100259	Postaxial polydactyly	374654	KIF7	ORPHA:2189
HP:0100259	Postaxial polydactyly	91147	TMEM67	OMIM:216360
HP:0100259	Postaxial polydactyly	91147	TMEM67	ORPHA:564
HP:0100259	Postaxial polydactyly	91147	TMEM67	ORPHA:1454
HP:0100259	Postaxial polydactyly	91147	TMEM67	OMIM:607361
HP:0100259	Postaxial polydactyly	57560	IFT80	ORPHA:93271
HP:0100259	Postaxial polydactyly	57560	IFT80	ORPHA:474
HP:0100259	Postaxial polydactyly	57560	IFT80	OMIM:611263
HP:0100259	Postaxial polydactyly	1717	DHCR7	ORPHA:818
HP:0100259	Postaxial polydactyly	1717	DHCR7	OMIM:270400
HP:0100259	Postaxial polydactyly	10225	CD96	OMIM:211750
HP:0100259	Postaxial polydactyly	6926	TBX3	ORPHA:3138
HP:0100259	Postaxial polydactyly	6926	TBX3	OMIM:181450
HP:0100259	Postaxial polydactyly	7476	WNT7A	OMIM:228930
HP:0100259	Postaxial polydactyly	51057	WDPCP	OMIM:217085
HP:0100259	Postaxial polydactyly	51057	WDPCP	ORPHA:110
HP:0100259	Postaxial polydactyly	3209	HOXA13	ORPHA:2438
HP:0100259	Postaxial polydactyly	3209	HOXA13	OMIM:176305
HP:0100259	Postaxial polydactyly	64093	SMOC1	ORPHA:1106
HP:0100259	Postaxial polydactyly	64093	SMOC1	OMIM:206920
HP:0100259	Postaxial polydactyly	84314	TMEM107	ORPHA:564
HP:0100259	Postaxial polydactyly	84314	TMEM107	OMIM:617563
HP:0100259	Postaxial polydactyly	79867	TCTN2	ORPHA:564
HP:0100259	Postaxial polydactyly	79867	TCTN2	OMIM:616654
HP:0100259	Postaxial polydactyly	79600	TCTN1	ORPHA:564
HP:0100259	Postaxial polydactyly	57096	RPGRIP1	ORPHA:564
HP:0100259	Postaxial polydactyly	80184	CEP290	ORPHA:564
HP:0100259	Postaxial polydactyly	80184	CEP290	ORPHA:110
HP:0100259	Postaxial polydactyly	80184	CEP290	OMIM:611134
HP:0100259	Postaxial polydactyly	57545	CC2D2A	ORPHA:564
HP:0100259	Postaxial polydactyly	57545	CC2D2A	ORPHA:1454
HP:0100259	Postaxial polydactyly	57545	CC2D2A	OMIM:612284
HP:0100259	Postaxial polydactyly	27077	B9D1	ORPHA:564
HP:0100259	Postaxial polydactyly	285600	KIAA0825	OMIM:618498
HP:0100259	Postaxial polydactyly	8200	GDF5	OMIM:113100
HP:0100259	Postaxial polydactyly	8200	GDF5	OMIM:200700
HP:0100259	Postaxial polydactyly	8200	GDF5	ORPHA:2098
HP:0100259	Postaxial polydactyly	5147	PDE6D	OMIM:615665
HP:0100259	Postaxial polydactyly	51715	RAB23	ORPHA:65759
HP:0100259	Postaxial polydactyly	51715	RAB23	OMIM:201000
HP:0100259	Postaxial polydactyly	26005	C2CD3	OMIM:615948
HP:0100259	Postaxial polydactyly	26005	C2CD3	ORPHA:434179
HP:0100259	Postaxial polydactyly	26040	SETBP1	OMIM:269150
HP:0100259	Postaxial polydactyly	2121	EVC	ORPHA:952
HP:0100259	Postaxial polydactyly	2121	EVC	OMIM:193530
HP:0100259	Postaxial polydactyly	2121	EVC	OMIM:225500
HP:0100259	Postaxial polydactyly	132884	EVC2	ORPHA:952
HP:0100259	Postaxial polydactyly	132884	EVC2	OMIM:193530
HP:0100259	Postaxial polydactyly	132884	EVC2	OMIM:225500
HP:0100259	Postaxial polydactyly	9742	IFT140	ORPHA:474
HP:0100259	Postaxial polydactyly	9742	IFT140	OMIM:266920
HP:0100259	Postaxial polydactyly	57728	WDR19	ORPHA:474
HP:0100259	Postaxial polydactyly	79809	TTC21B	ORPHA:474
HP:0100259	Postaxial polydactyly	64840	PORCN	OMIM:305600
HP:0100259	Postaxial polydactyly	92482	BBIP1	ORPHA:110
HP:0100259	Postaxial polydactyly	49855	SCAPER	ORPHA:110
HP:0100259	Postaxial polydactyly	4867	NPHP1	ORPHA:110
HP:0100259	Postaxial polydactyly	84984	CEP19	ORPHA:110
HP:0100259	Postaxial polydactyly	22954	TRIM32	ORPHA:110
HP:0100259	Postaxial polydactyly	79738	BBS10	ORPHA:110
HP:0100259	Postaxial polydactyly	583	BBS2	ORPHA:110
HP:0100259	Postaxial polydactyly	583	BBS2	OMIM:615981
HP:0100259	Postaxial polydactyly	585	BBS4	ORPHA:110
HP:0100259	Postaxial polydactyly	166379	BBS12	ORPHA:110
HP:0100259	Postaxial polydactyly	166379	BBS12	OMIM:615989
HP:0100259	Postaxial polydactyly	10806	SDCCAG8	ORPHA:110
HP:0100259	Postaxial polydactyly	129880	BBS5	ORPHA:110
HP:0100259	Postaxial polydactyly	79005	SCNM1	OMIM:620107
HP:0100259	Postaxial polydactyly	6608	SMO	OMIM:241800
HP:0100259	Postaxial polydactyly	658	BMPR1B	ORPHA:2098
HP:0100259	Postaxial polydactyly	54499	TMCO1	OMIM:213980
HP:0100259	Postaxial polydactyly	51360	MBTPS2	OMIM:308205
HP:0100259	Postaxial polydactyly	51360	MBTPS2	ORPHA:85284
HP:0100259	Postaxial polydactyly	80210	ARMC9	OMIM:617622
HP:0100259	Postaxial polydactyly	2316	FLNA	OMIM:304120
HP:0100259	Postaxial polydactyly	3930	LBR	OMIM:215140
HP:0100259	Postaxial polydactyly	727857	BHLHA9	ORPHA:3329
HP:0100259	Postaxial polydactyly	51684	SUFU	OMIM:617757
HP:0100259	Postaxial polydactyly	219844	HYLS1	OMIM:236680
HP:0100259	Postaxial polydactyly	219844	HYLS1	ORPHA:2189
HP:0100259	Postaxial polydactyly	257	ALX3	OMIM:136760
HP:0100259	Postaxial polydactyly	23288	IQCE	OMIM:617642
HP:0100259	Postaxial polydactyly	5567	PRKACB	OMIM:619143
HP:0100259	Postaxial polydactyly	137392	CIBAR1	OMIM:618219
HP:0100259	Postaxial polydactyly	7700	ZNF141	OMIM:615226
HP:0100259	Postaxial polydactyly	9851	KIAA0753	OMIM:617127
HP:0100259	Postaxial polydactyly	7046	TGFBR1	OMIM:609192
HP:0100259	Postaxial polydactyly	255758	DYNLT2B	OMIM:617405
HP:0100259	Postaxial polydactyly	2263	FGFR2	OMIM:101200
HP:0100259	Postaxial polydactyly	2137	EXTL3	ORPHA:508533
HP:0100259	Postaxial polydactyly	3239	HOXD13	OMIM:186000
HP:0100259	Postaxial polydactyly	652	BMP4	ORPHA:139471
HP:0100259	Postaxial polydactyly	27031	NPHP3	OMIM:267010
HP:0100259	Postaxial polydactyly	26160	IFT172	OMIM:619471
HP:0100259	Postaxial polydactyly	79659	DYNC2H1	OMIM:613091
HP:0100259	Postaxial polydactyly	5518	PPP2R1A	OMIM:616362
HP:0100259	Postaxial polydactyly	5518	PPP2R1A	ORPHA:457284
HP:0100259	Postaxial polydactyly	392255	GDF6	OMIM:613094
HP:0100259	Postaxial polydactyly	65250	CPLANE1	OMIM:277170
HP:0100259	Postaxial polydactyly	65250	CPLANE1	OMIM:614615
HP:0100259	Postaxial polydactyly	28981	IFT81	OMIM:617895
HP:0100259	Postaxial polydactyly	54892	NCAPG2	OMIM:618460
HP:0100259	Postaxial polydactyly	348180	CTU2	OMIM:618142
HP:0100259	Postaxial polydactyly	89891	DYNC2I2	OMIM:615633
HP:0100259	Postaxial polydactyly	11020	IFT27	OMIM:615996
HP:0100259	Postaxial polydactyly	157657	CFAP418	OMIM:614500
HP:0100259	Postaxial polydactyly	8239	USP9X	ORPHA:480880
HP:0100259	Postaxial polydactyly	8239	USP9X	OMIM:300968
HP:0100259	Postaxial polydactyly	65062	TMEM237	OMIM:614424
HP:0100259	Postaxial polydactyly	79770	TXNDC15	OMIM:619879
HP:0100259	Postaxial polydactyly	55209	SETD5	ORPHA:404440
HP:0100259	Postaxial polydactyly	55209	SETD5	OMIM:615761
HP:0100259	Postaxial polydactyly	3190	HNRNPK	ORPHA:453504
HP:0100259	Postaxial polydactyly	3190	HNRNPK	OMIM:616580
HP:0100259	Postaxial polydactyly	3190	HNRNPK	ORPHA:352665
HP:0100259	Postaxial polydactyly	79848	CSPP1	ORPHA:397715
HP:0100259	Postaxial polydactyly	9786	KIAA0586	ORPHA:397715
HP:0100259	Postaxial polydactyly	9786	KIAA0586	OMIM:616546
HP:0100259	Postaxial polydactyly	64327	LMBR1	OMIM:186200
HP:0100259	Postaxial polydactyly	3021	H3-3B	OMIM:619721
HP:0100259	Postaxial polydactyly	51098	IFT52	OMIM:617102
HP:0100259	Postaxial polydactyly	219854	TMEM218	OMIM:619562
HP:0100259	Postaxial polydactyly	112752	IFT43	OMIM:617866
HP:0100259	Postaxial polydactyly	112752	IFT43	OMIM:614099
HP:0100259	Postaxial polydactyly	23322	RPGRIP1L	OMIM:611560
HP:0100259	Postaxial polydactyly	83479	DDX59	OMIM:174300
HP:0100259	Postaxial polydactyly	22858	CILK1	OMIM:612651
HP:0100259	Postaxial polydactyly	9371	KIF3B	OMIM:618955
HP:0100259	Postaxial polydactyly	2736	GLI2	OMIM:615849
HP:0100259	Postaxial polydactyly	137814	NKX2-6	OMIM:217095
HP:0100259	Postaxial polydactyly	1482	NKX2-5	OMIM:217095
HP:0100259	Postaxial polydactyly	6899	TBX1	OMIM:217095
HP:0100259	Postaxial polydactyly	2627	GATA6	OMIM:217095
HP:0100259	Postaxial polydactyly	5932	RBBP8	OMIM:251255
HP:0100259	Postaxial polydactyly	8241	RBM10	ORPHA:2886
HP:0100259	Postaxial polydactyly	8241	RBM10	OMIM:311900
HP:0100259	Postaxial polydactyly	5296	PIK3R2	OMIM:603387
HP:0100259	Postaxial polydactyly	2735	GLI1	OMIM:618123
HP:0100259	Postaxial polydactyly	50515	CHST11	OMIM:618167
HP:0100259	Postaxial polydactyly	79989	IFT56	OMIM:619534
HP:0100259	Postaxial polydactyly	153241	CEP120	OMIM:616300
HP:0100259	Postaxial polydactyly	8831	SYNGAP1	ORPHA:544254
HP:0100259	Postaxial polydactyly	8481	OFD1	OMIM:300804
HP:0100259	Postaxial polydactyly	7048	TGFBR2	OMIM:610168
HP:0100259	Postaxial polydactyly	84100	ARL6	OMIM:209900
HP:0100259	Postaxial polydactyly	84100	ARL6	OMIM:600151
HP:0100259	Postaxial polydactyly	79140	CCDC28B	OMIM:209900
HP:0100259	Postaxial polydactyly	582	BBS1	OMIM:209900
HP:0100259	Postaxial polydactyly	286204	CRB2	OMIM:219730
HP:0100259	Postaxial polydactyly	10682	EBP	OMIM:302960
HP:0100259	Postaxial polydactyly	23116	TOGARAM1	OMIM:619185
HP:0100259	Postaxial polydactyly	57539	WDR35	OMIM:614091
HP:0100259	Postaxial polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0100259	Postaxial polydactyly	54903	MKS1	OMIM:249000
HP:0100259	Postaxial polydactyly	5566	PRKACA	OMIM:619142
HP:0100259	Postaxial polydactyly	80173	IFT74	OMIM:619582
HP:0100259	Postaxial polydactyly	80776	B9D2	OMIM:614175
HP:0100259	Postaxial polydactyly	55212	BBS7	OMIM:615984
HP:0100259	Postaxial polydactyly	57511	COG6	OMIM:614576
HP:0100259	Postaxial polydactyly	123016	TTC8	OMIM:615985
HP:0100259	Postaxial polydactyly	79583	TMEM231	OMIM:614970
HP:0100259	Postaxial polydactyly	27152	INTU	OMIM:617925
HP:0100259	Postaxial polydactyly	1954	MEGF8	OMIM:614976
HP:0100259	Postaxial polydactyly	84300	UQCC2	OMIM:615824
HP:0100259	Postaxial polydactyly	9373	PLAA	OMIM:617527
HP:0100259	Postaxial polydactyly	27241	BBS9	OMIM:615986
HP:0100259	Postaxial polydactyly	2719	GPC3	OMIM:312870
HP:0100259	Postaxial polydactyly	2239	GPC4	OMIM:312870
HP:0100259	Postaxial polydactyly	55112	DYNC2I1	OMIM:615503
HP:0100259	Postaxial polydactyly	26123	TCTN3	OMIM:614815
HP:0100259	Postaxial polydactyly	26123	TCTN3	OMIM:258860
HP:0100259	Postaxial polydactyly	8195	MKKS	OMIM:605231
HP:0100259	Postaxial polydactyly	55081	IFT57	OMIM:617927
HP:0100257	Ectrodactyly	5376	PMP22	OMIM:118300
HP:0100257	Ectrodactyly	5376	PMP22	OMIM:118220
HP:0100257	Ectrodactyly	5376	PMP22	ORPHA:90658
HP:0100257	Ectrodactyly	5376	PMP22	OMIM:145900
HP:0100257	Ectrodactyly	6910	TBX5	ORPHA:392
HP:0100257	Ectrodactyly	3094	HINT1	ORPHA:324442
HP:0100257	Ectrodactyly	22880	MORC2	OMIM:616688
HP:0100257	Ectrodactyly	4047	LSS	ORPHA:2850
HP:0100257	Ectrodactyly	197	AHSG	ORPHA:2850
HP:0100257	Ectrodactyly	3694	ITGB6	ORPHA:2850
HP:0100257	Ectrodactyly	79581	SLC52A2	OMIM:614707
HP:0100257	Ectrodactyly	411	ARSB	OMIM:253200
HP:0100257	Ectrodactyly	9150	CTDP1	OMIM:604168
HP:0100257	Ectrodactyly	54332	GDAP1	OMIM:607831
HP:0100257	Ectrodactyly	54332	GDAP1	ORPHA:101097
HP:0100257	Ectrodactyly	56704	JPH1	OMIM:607831
HP:0100257	Ectrodactyly	1750	DLX6	ORPHA:2440
HP:0100257	Ectrodactyly	7979	SEM1	ORPHA:2440
HP:0100257	Ectrodactyly	8945	BTRC	ORPHA:2440
HP:0100257	Ectrodactyly	58513	EPS15L1	ORPHA:2440
HP:0100257	Ectrodactyly	6468	FBXW4	ORPHA:2440
HP:0100257	Ectrodactyly	1717	DHCR7	ORPHA:818
HP:0100257	Ectrodactyly	9968	MED12	OMIM:305450
HP:0100257	Ectrodactyly	81846	SBF2	OMIM:604563
HP:0100257	Ectrodactyly	79158	GNPTAB	OMIM:252500
HP:0100257	Ectrodactyly	79158	GNPTAB	OMIM:252600
HP:0100257	Ectrodactyly	3516	RBPJ	ORPHA:974
HP:0100257	Ectrodactyly	4851	NOTCH1	ORPHA:974
HP:0100257	Ectrodactyly	57514	ARHGAP31	ORPHA:974
HP:0100257	Ectrodactyly	57572	DOCK6	ORPHA:974
HP:0100257	Ectrodactyly	285203	EOGT	ORPHA:974
HP:0100257	Ectrodactyly	54567	DLL4	ORPHA:974
HP:0100257	Ectrodactyly	8888	MCM3AP	OMIM:618124
HP:0100257	Ectrodactyly	4359	MPZ	OMIM:118200
HP:0100257	Ectrodactyly	4359	MPZ	OMIM:145900
HP:0100257	Ectrodactyly	3423	IDS	OMIM:309900
HP:0100257	Ectrodactyly	3664	IRF6	ORPHA:1300
HP:0100257	Ectrodactyly	2261	FGFR3	ORPHA:1860
HP:0100257	Ectrodactyly	374969	SVBP	OMIM:618569
HP:0100257	Ectrodactyly	3295	HSD17B4	OMIM:261515
HP:0100257	Ectrodactyly	1509	CTSD	OMIM:610127
HP:0100257	Ectrodactyly	64359	NXN	ORPHA:1507
HP:0100257	Ectrodactyly	4920	ROR2	ORPHA:1507
HP:0100257	Ectrodactyly	26580	BSCL2	OMIM:270685
HP:0100257	Ectrodactyly	26580	BSCL2	ORPHA:100998
HP:0100257	Ectrodactyly	26123	TCTN3	ORPHA:2753
HP:0100257	Ectrodactyly	4313	MMP2	OMIM:259600
HP:0100257	Ectrodactyly	10397	NDRG1	ORPHA:99950
HP:0100257	Ectrodactyly	10815	CPLX1	ORPHA:280
HP:0100257	Ectrodactyly	10815	CPLX1	OMIM:194190
HP:0100257	Ectrodactyly	54872	PIGG	ORPHA:280
HP:0100257	Ectrodactyly	7469	NELFA	ORPHA:280
HP:0100257	Ectrodactyly	1487	CTBP1	ORPHA:280
HP:0100257	Ectrodactyly	1487	CTBP1	OMIM:194190
HP:0100257	Ectrodactyly	3954	LETM1	ORPHA:280
HP:0100257	Ectrodactyly	3954	LETM1	OMIM:194190
HP:0100257	Ectrodactyly	7468	NSD2	ORPHA:280
HP:0100257	Ectrodactyly	7468	NSD2	OMIM:194190
HP:0100257	Ectrodactyly	4747	NEFL	OMIM:617882
HP:0100257	Ectrodactyly	53834	FGFRL1	OMIM:194190
HP:0100257	Ectrodactyly	1959	EGR2	OMIM:145900
HP:0100257	Ectrodactyly	57716	PRX	OMIM:145900
HP:0100257	Ectrodactyly	64840	PORCN	OMIM:305600
HP:0100257	Ectrodactyly	64840	PORCN	ORPHA:2092
HP:0100257	Ectrodactyly	7480	WNT10B	OMIM:225300
HP:0100257	Ectrodactyly	2263	FGFR2	ORPHA:1540
HP:0100257	Ectrodactyly	51776	MAP3K20	OMIM:616890
HP:0100257	Ectrodactyly	51776	MAP3K20	ORPHA:488232
HP:0100257	Ectrodactyly	2737	GLI3	ORPHA:93322
HP:0100257	Ectrodactyly	51360	MBTPS2	ORPHA:2273
HP:0100257	Ectrodactyly	51360	MBTPS2	OMIM:308205
HP:0100257	Ectrodactyly	2260	FGFR1	OMIM:147950
HP:0100257	Ectrodactyly	2260	FGFR1	OMIM:615465
HP:0100257	Ectrodactyly	727857	BHLHA9	ORPHA:3329
HP:0100257	Ectrodactyly	727857	BHLHA9	ORPHA:1986
HP:0100257	Ectrodactyly	10054	UBA2	OMIM:619959
HP:0100257	Ectrodactyly	7476	WNT7A	ORPHA:2879
HP:0100257	Ectrodactyly	8626	TP63	OMIM:605289
HP:0100257	Ectrodactyly	8626	TP63	OMIM:604292
HP:0100257	Ectrodactyly	8626	TP63	ORPHA:1896
HP:0100257	Ectrodactyly	3481	IGF2	ORPHA:397590
HP:0100257	Ectrodactyly	1028	CDKN1C	ORPHA:397590
HP:0100257	Ectrodactyly	5324	PLAG1	ORPHA:397590
HP:0100257	Ectrodactyly	8091	HMGA2	ORPHA:397590
HP:0100257	Ectrodactyly	79971	WLS	OMIM:619648
HP:0100257	Ectrodactyly	1749	DLX5	OMIM:183600
HP:0100257	Ectrodactyly	1001	CDH3	ORPHA:1897
HP:0100258	Preaxial polydactyly	57167	SALL4	ORPHA:233
HP:0100258	Preaxial polydactyly	57167	SALL4	ORPHA:959
HP:0100258	Preaxial polydactyly	57167	SALL4	ORPHA:2307
HP:0100258	Preaxial polydactyly	9935	MAFB	ORPHA:233
HP:0100258	Preaxial polydactyly	1123	CHN1	ORPHA:233
HP:0100258	Preaxial polydactyly	2137	EXTL3	ORPHA:508533
HP:0100258	Preaxial polydactyly	22827	PUF60	ORPHA:508498
HP:0100258	Preaxial polydactyly	65250	CPLANE1	OMIM:277170
HP:0100258	Preaxial polydactyly	6608	SMO	OMIM:601707
HP:0100258	Preaxial polydactyly	6608	SMO	ORPHA:1553
HP:0100258	Preaxial polydactyly	4750	NEK1	OMIM:263520
HP:0100258	Preaxial polydactyly	2737	GLI3	OMIM:175700
HP:0100258	Preaxial polydactyly	2737	GLI3	ORPHA:380
HP:0100258	Preaxial polydactyly	2737	GLI3	OMIM:174200
HP:0100258	Preaxial polydactyly	64327	LMBR1	ORPHA:2378
HP:0100258	Preaxial polydactyly	64327	LMBR1	OMIM:174500
HP:0100258	Preaxial polydactyly	55027	HEATR3	OMIM:620072
HP:0100258	Preaxial polydactyly	6299	SALL1	OMIM:107480
HP:0100258	Preaxial polydactyly	6299	SALL1	ORPHA:857
HP:0100258	Preaxial polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0100258	Preaxial polydactyly	57560	IFT80	ORPHA:93271
HP:0100258	Preaxial polydactyly	57539	WDR35	ORPHA:93271
HP:0100258	Preaxial polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0100258	Preaxial polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0100258	Preaxial polydactyly	374879	ZNF699	OMIM:619488
HP:0100258	Preaxial polydactyly	374654	KIF7	OMIM:200990
HP:0100258	Preaxial polydactyly	8318	CDC45	OMIM:617063
HP:0100258	Preaxial polydactyly	51339	DACT1	ORPHA:857
HP:0100258	Preaxial polydactyly	2177	FANCD2	OMIM:227646
HP:0100258	Preaxial polydactyly	727857	BHLHA9	ORPHA:3329
HP:0100258	Preaxial polydactyly	23133	PHF8	ORPHA:85287
HP:0100258	Preaxial polydactyly	8481	OFD1	ORPHA:2750
HP:0100258	Preaxial polydactyly	219844	HYLS1	OMIM:236680
HP:0100258	Preaxial polydactyly	26123	TCTN3	ORPHA:2753
HP:0100258	Preaxial polydactyly	26123	TCTN3	ORPHA:564
HP:0100258	Preaxial polydactyly	2697	GJA1	ORPHA:2710
HP:0100258	Preaxial polydactyly	3239	HOXD13	ORPHA:887
HP:0100258	Preaxial polydactyly	7020	TFAP2A	OMIM:113620
HP:0100258	Preaxial polydactyly	7020	TFAP2A	ORPHA:1297
HP:0100258	Preaxial polydactyly	84314	TMEM107	ORPHA:564
HP:0100258	Preaxial polydactyly	79867	TCTN2	ORPHA:564
HP:0100258	Preaxial polydactyly	80776	B9D2	ORPHA:564
HP:0100258	Preaxial polydactyly	79600	TCTN1	ORPHA:564
HP:0100258	Preaxial polydactyly	57096	RPGRIP1	ORPHA:564
HP:0100258	Preaxial polydactyly	79848	CSPP1	ORPHA:564
HP:0100258	Preaxial polydactyly	80184	CEP290	ORPHA:564
HP:0100258	Preaxial polydactyly	51259	TMEM216	ORPHA:564
HP:0100258	Preaxial polydactyly	57545	CC2D2A	ORPHA:564
HP:0100258	Preaxial polydactyly	79583	TMEM231	ORPHA:564
HP:0100258	Preaxial polydactyly	91147	TMEM67	ORPHA:564
HP:0100258	Preaxial polydactyly	79770	TXNDC15	ORPHA:564
HP:0100258	Preaxial polydactyly	27077	B9D1	ORPHA:564
HP:0100258	Preaxial polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0100258	Preaxial polydactyly	54903	MKS1	ORPHA:564
HP:0100258	Preaxial polydactyly	65062	TMEM237	ORPHA:564
HP:0100258	Preaxial polydactyly	10815	CPLX1	ORPHA:280
HP:0100258	Preaxial polydactyly	10815	CPLX1	OMIM:194190
HP:0100258	Preaxial polydactyly	54872	PIGG	ORPHA:280
HP:0100258	Preaxial polydactyly	7469	NELFA	ORPHA:280
HP:0100258	Preaxial polydactyly	1487	CTBP1	ORPHA:280
HP:0100258	Preaxial polydactyly	1487	CTBP1	OMIM:194190
HP:0100258	Preaxial polydactyly	3954	LETM1	ORPHA:280
HP:0100258	Preaxial polydactyly	3954	LETM1	OMIM:194190
HP:0100258	Preaxial polydactyly	7468	NSD2	ORPHA:280
HP:0100258	Preaxial polydactyly	7468	NSD2	OMIM:194190
HP:0100258	Preaxial polydactyly	2735	GLI1	OMIM:174400
HP:0100258	Preaxial polydactyly	53834	FGFRL1	OMIM:194190
HP:0100258	Preaxial polydactyly	9343	EFTUD2	OMIM:610536
HP:0100258	Preaxial polydactyly	9343	EFTUD2	ORPHA:79113
HP:0100258	Preaxial polydactyly	2263	FGFR2	OMIM:101200
HP:0100258	Preaxial polydactyly	26160	IFT172	OMIM:619471
HP:0100258	Preaxial polydactyly	5307	PITX1	OMIM:119800
HP:0100258	Preaxial polydactyly	51715	RAB23	OMIM:201000
HP:0100258	Preaxial polydactyly	51715	RAB23	ORPHA:65759
HP:0100258	Preaxial polydactyly	10584	COLEC10	OMIM:248340
HP:0100258	Preaxial polydactyly	153241	CEP120	OMIM:616300
HP:0100258	Preaxial polydactyly	348180	CTU2	OMIM:618142
HP:0100258	Preaxial polydactyly	9786	KIAA0586	OMIM:616546
HP:0100258	Preaxial polydactyly	100151683	RNU4ATAC	OMIM:210710
HP:0100258	Preaxial polydactyly	95681	CEP41	OMIM:614464
HP:0100258	Preaxial polydactyly	91754	NEK9	ORPHA:64754
HP:0100258	Preaxial polydactyly	1063	CENPF	OMIM:243605
HP:0100258	Preaxial polydactyly	26047	CNTNAP2	ORPHA:163681
HP:0100258	Preaxial polydactyly	10210	TOPORS	ORPHA:2754
HP:0100258	Preaxial polydactyly	9851	KIAA0753	ORPHA:2754
HP:0100258	Preaxial polydactyly	5147	PDE6D	ORPHA:2754
HP:0100258	Preaxial polydactyly	317662	FAM149B1	ORPHA:2754
HP:0100258	Preaxial polydactyly	112752	IFT43	OMIM:617866
HP:0100258	Preaxial polydactyly	22858	CILK1	OMIM:612651
HP:0100258	Preaxial polydactyly	27152	INTU	OMIM:617925
HP:0100258	Preaxial polydactyly	1954	MEGF8	OMIM:614976
HP:0100258	Preaxial polydactyly	26005	C2CD3	OMIM:615948
HP:0100258	Preaxial polydactyly	55081	IFT57	OMIM:617927
HP:0100258	Preaxial polydactyly	57688	ZSWIM6	OMIM:603671
HP:0100258	Preaxial polydactyly	2316	FLNA	ORPHA:90652
HP:0005272	Prominent nasolabial fold	4763	NF1	OMIM:601321
HP:0005272	Prominent nasolabial fold	27086	FOXP1	ORPHA:391372
HP:0005272	Prominent nasolabial fold	23545	ATP6V0A2	ORPHA:357074
HP:0005272	Prominent nasolabial fold	23545	ATP6V0A2	ORPHA:2834
HP:0005272	Prominent nasolabial fold	523	ATP6V1A	ORPHA:357074
HP:0005272	Prominent nasolabial fold	529	ATP6V1E1	ORPHA:357074
HP:0005272	Prominent nasolabial fold	259232	NALCN	OMIM:616266
HP:0005272	Prominent nasolabial fold	4052	LTBP1	OMIM:619451
HP:0005272	Prominent nasolabial fold	8260	NAA10	OMIM:300855
HP:0005272	Prominent nasolabial fold	113189	CHST14	ORPHA:2953
HP:0005272	Prominent nasolabial fold	29940	DSE	ORPHA:2953
HP:0005272	Prominent nasolabial fold	1861	TOR1A	OMIM:618947
HP:0005272	Prominent nasolabial fold	8239	USP9X	ORPHA:480880
HP:0005272	Prominent nasolabial fold	2783	GNB2	OMIM:619503
HP:0005272	Prominent nasolabial fold	4604	MYBPC1	OMIM:618524
HP:0005272	Prominent nasolabial fold	200734	SPRED2	OMIM:619745
HP:0005272	Prominent nasolabial fold	7136	TNNI2	OMIM:601680
HP:0000448	Prominent nose	11253	MAN1B1	ORPHA:397941
HP:0000448	Prominent nose	11253	MAN1B1	OMIM:614202
HP:0000448	Prominent nose	10466	COG5	ORPHA:263487
HP:0000448	Prominent nose	8367	H4C5	OMIM:619950
HP:0000448	Prominent nose	9853	RUSC2	OMIM:617773
HP:0000448	Prominent nose	100151683	RNU4ATAC	OMIM:210710
HP:0000448	Prominent nose	100151683	RNU4ATAC	OMIM:226960
HP:0000448	Prominent nose	100151683	RNU4ATAC	ORPHA:2636
HP:0000448	Prominent nose	29926	GMPPA	OMIM:615510
HP:0000448	Prominent nose	84942	WDR73	OMIM:251300
HP:0000448	Prominent nose	3981	LIG4	OMIM:606593
HP:0000448	Prominent nose	4784	NFIX	ORPHA:447980
HP:0000448	Prominent nose	10733	PLK4	OMIM:616171
HP:0000448	Prominent nose	4983	OPHN1	OMIM:300486
HP:0000448	Prominent nose	4983	OPHN1	ORPHA:137831
HP:0000448	Prominent nose	23118	TAB2	ORPHA:228410
HP:0000448	Prominent nose	5932	RBBP8	OMIM:606744
HP:0000448	Prominent nose	5932	RBBP8	OMIM:251255
HP:0000448	Prominent nose	10847	SRCAP	OMIM:136140
HP:0000448	Prominent nose	1062	CENPE	OMIM:616051
HP:0000448	Prominent nose	113179	ADAT3	ORPHA:363528
HP:0000448	Prominent nose	51506	UFC1	OMIM:618076
HP:0000448	Prominent nose	2137	EXTL3	OMIM:617425
HP:0000448	Prominent nose	2068	ERCC2	OMIM:610756
HP:0000448	Prominent nose	1161	ERCC8	OMIM:216400
HP:0000448	Prominent nose	23097	CDK19	OMIM:618916
HP:0000448	Prominent nose	26224	FBXL3	OMIM:606220
HP:0000448	Prominent nose	2239	GPC4	OMIM:301026
HP:0000448	Prominent nose	16	AARS1	OMIM:619691
HP:0000448	Prominent nose	4810	NHS	OMIM:302350
HP:0000448	Prominent nose	4810	NHS	ORPHA:627
HP:0000448	Prominent nose	55777	MBD5	OMIM:156200
HP:0000448	Prominent nose	10735	STAG2	OMIM:301022
HP:0000448	Prominent nose	56915	EXOSC5	OMIM:619576
HP:0000448	Prominent nose	51132	RLIM	OMIM:300978
HP:0000448	Prominent nose	1513	CTSK	OMIM:265800
HP:0000448	Prominent nose	1513	CTSK	ORPHA:763
HP:0000448	Prominent nose	55870	ASH1L	OMIM:617796
HP:0000448	Prominent nose	23522	KAT6B	OMIM:606170
HP:0000448	Prominent nose	23522	KAT6B	ORPHA:85201
HP:0000448	Prominent nose	23522	KAT6B	ORPHA:3047
HP:0000448	Prominent nose	9968	MED12	ORPHA:93932
HP:0000448	Prominent nose	9968	MED12	OMIM:305450
HP:0000448	Prominent nose	9968	MED12	OMIM:300895
HP:0000448	Prominent nose	9968	MED12	ORPHA:293707
HP:0000448	Prominent nose	6491	STIL	OMIM:612703
HP:0000448	Prominent nose	2248	FGF3	ORPHA:90024
HP:0000448	Prominent nose	444	ASPH	OMIM:601552
HP:0000448	Prominent nose	1781	DYNC1I2	OMIM:618492
HP:0000448	Prominent nose	23111	SPART	ORPHA:101000
HP:0000448	Prominent nose	23258	DENND5A	OMIM:617281
HP:0000448	Prominent nose	64919	BCL11B	OMIM:618092
HP:0000448	Prominent nose	10297	APC2	OMIM:617169
HP:0000448	Prominent nose	80185	TTI2	OMIM:615541
HP:0000448	Prominent nose	80185	TTI2	ORPHA:391307
HP:0000448	Prominent nose	51199	NIN	OMIM:614851
HP:0000448	Prominent nose	51199	NIN	ORPHA:319675
HP:0000448	Prominent nose	5144	PDE4D	ORPHA:439822
HP:0000448	Prominent nose	545	ATR	OMIM:210600
HP:0000448	Prominent nose	2783	GNB2	OMIM:619503
HP:0000448	Prominent nose	5116	PCNT	OMIM:210720
HP:0000448	Prominent nose	5116	PCNT	ORPHA:2637
HP:0000448	Prominent nose	6638	SNRPN	ORPHA:177907
HP:0000448	Prominent nose	2074	ERCC6	OMIM:214150
HP:0000448	Prominent nose	29081	METTL5	OMIM:618665
HP:0000448	Prominent nose	57061	HYMAI	ORPHA:96191
HP:0000448	Prominent nose	5325	PLAGL1	ORPHA:96191
HP:0000448	Prominent nose	11154	AP4S1	OMIM:614067
HP:0000448	Prominent nose	1387	CREBBP	OMIM:180849
HP:0000448	Prominent nose	2033	EP300	OMIM:180849
HP:0000448	Prominent nose	2033	EP300	OMIM:613684
HP:0000448	Prominent nose	64327	LMBR1	ORPHA:2378
HP:0000448	Prominent nose	8239	USP9X	ORPHA:480880
HP:0000448	Prominent nose	8239	USP9X	OMIM:300968
HP:0000448	Prominent nose	285175	UNC80	OMIM:616801
HP:0000448	Prominent nose	80152	CENPT	OMIM:618702
HP:0000448	Prominent nose	80067	DCAF17	ORPHA:3464
HP:0000448	Prominent nose	3675	ITGA3	OMIM:614748
HP:0000448	Prominent nose	8405	SPOP	OMIM:618829
HP:0000448	Prominent nose	55719	SLF2	OMIM:620184
HP:0000448	Prominent nose	23137	SMC5	OMIM:620185
HP:0000448	Prominent nose	79759	ZNF668	OMIM:620194
HP:0000448	Prominent nose	283209	PGM2L1	OMIM:620191
HP:0000448	Prominent nose	374879	ZNF699	OMIM:619488
HP:0000448	Prominent nose	10436	EMG1	ORPHA:1270
HP:0000448	Prominent nose	10436	EMG1	OMIM:211180
HP:0000448	Prominent nose	4841	NONO	OMIM:300967
HP:0000448	Prominent nose	4841	NONO	ORPHA:466791
HP:0000448	Prominent nose	55755	CDK5RAP2	OMIM:604804
HP:0000448	Prominent nose	54870	QRICH1	OMIM:617982
HP:0000448	Prominent nose	91875	TTC5	OMIM:619244
HP:0000448	Prominent nose	6786	STIM1	OMIM:185070
HP:0000448	Prominent nose	641	BLM	OMIM:210900
HP:0000448	Prominent nose	8450	CUL4B	ORPHA:85293
HP:0000448	Prominent nose	9772	TMEM94	OMIM:618316
HP:0000448	Prominent nose	9562	MINPP1	OMIM:619527
HP:0000448	Prominent nose	2273	FHL1	OMIM:300280
HP:0000448	Prominent nose	5373	PMM2	ORPHA:79318
HP:0000448	Prominent nose	54888	NSUN2	OMIM:611091
HP:0000448	Prominent nose	153241	CEP120	OMIM:616300
HP:0000448	Prominent nose	8218	CLTCL1	ORPHA:453510
HP:0000448	Prominent nose	2186	BPTF	OMIM:617755
HP:0000448	Prominent nose	8504	PEX3	OMIM:614882
HP:0000448	Prominent nose	1107	CHD3	OMIM:618205
HP:0000448	Prominent nose	5718	PSMD12	OMIM:617516
HP:0000448	Prominent nose	5824	PEX19	OMIM:614886
HP:0000448	Prominent nose	4683	NBN	ORPHA:647
HP:0000448	Prominent nose	71	ACTG1	ORPHA:2995
HP:0000448	Prominent nose	60	ACTB	ORPHA:2995
HP:0000448	Prominent nose	55553	SOX6	OMIM:618971
HP:0000448	Prominent nose	55181	SMG8	OMIM:619268
HP:0000448	Prominent nose	9775	EIF4A3	OMIM:268305
HP:0000448	Prominent nose	55331	ACER3	OMIM:617762
HP:0000448	Prominent nose	2702	GJA5	OMIM:612474
HP:0000448	Prominent nose	2703	GJA8	OMIM:612474
HP:0000448	Prominent nose	6878	TAF6	OMIM:617126
HP:0000448	Prominent nose	5696	PSMB8	OMIM:256040
HP:0000448	Prominent nose	25886	POC1A	OMIM:614813
HP:0000448	Prominent nose	8905	AP1S2	OMIM:304340
HP:0000448	Prominent nose	27152	INTU	OMIM:617926
HP:0003196	Short nose	2137	EXTL3	ORPHA:508533
HP:0003196	Short nose	1718	DHCR24	OMIM:602398
HP:0003196	Short nose	1718	DHCR24	ORPHA:35107
HP:0003196	Short nose	10617	STAMBP	OMIM:614261
HP:0003196	Short nose	340533	NEXMIF	OMIM:300912
HP:0003196	Short nose	340533	NEXMIF	ORPHA:85277
HP:0003196	Short nose	5728	PTEN	OMIM:605309
HP:0003196	Short nose	5728	PTEN	ORPHA:109
HP:0003196	Short nose	6659	SOX4	OMIM:618506
HP:0003196	Short nose	6659	SOX4	ORPHA:1465
HP:0003196	Short nose	4897	NRCAM	OMIM:619833
HP:0003196	Short nose	5077	PAX3	ORPHA:1529
HP:0003196	Short nose	5077	PAX3	ORPHA:894
HP:0003196	Short nose	5077	PAX3	OMIM:122880
HP:0003196	Short nose	80816	ASXL3	OMIM:615485
HP:0003196	Short nose	1855	DVL1	OMIM:616331
HP:0003196	Short nose	1855	DVL1	OMIM:180700
HP:0003196	Short nose	1855	DVL1	ORPHA:3107
HP:0003196	Short nose	5184	PEPD	OMIM:170100
HP:0003196	Short nose	129563	DIS3L2	ORPHA:2849
HP:0003196	Short nose	28960	DCPS	OMIM:616459
HP:0003196	Short nose	23384	SPECC1L	ORPHA:1519
HP:0003196	Short nose	23384	SPECC1L	OMIM:145420
HP:0003196	Short nose	55650	PIGV	OMIM:239300
HP:0003196	Short nose	2260	FGFR1	ORPHA:280200
HP:0003196	Short nose	2260	FGFR1	OMIM:166250
HP:0003196	Short nose	2260	FGFR1	OMIM:190440
HP:0003196	Short nose	2260	FGFR1	OMIM:101600
HP:0003196	Short nose	2260	FGFR1	ORPHA:93258
HP:0003196	Short nose	28514	DLL1	ORPHA:280200
HP:0003196	Short nose	2253	FGF8	ORPHA:280200
HP:0003196	Short nose	6496	SIX3	ORPHA:280200
HP:0003196	Short nose	7050	TGIF1	ORPHA:280200
HP:0003196	Short nose	4838	NODAL	ORPHA:280200
HP:0003196	Short nose	6469	SHH	ORPHA:280200
HP:0003196	Short nose	51684	SUFU	ORPHA:280200
HP:0003196	Short nose	7546	ZIC2	ORPHA:280200
HP:0003196	Short nose	2619	GAS1	ORPHA:280200
HP:0003196	Short nose	84976	DISP1	ORPHA:280200
HP:0003196	Short nose	2736	GLI2	ORPHA:280200
HP:0003196	Short nose	8928	FOXH1	ORPHA:280200
HP:0003196	Short nose	5727	PTCH1	ORPHA:280200
HP:0003196	Short nose	5727	PTCH1	OMIM:610828
HP:0003196	Short nose	5727	PTCH1	ORPHA:77301
HP:0003196	Short nose	50937	CDON	ORPHA:280200
HP:0003196	Short nose	65082	VPS33A	ORPHA:505248
HP:0003196	Short nose	1896	EDA	OMIM:305100
HP:0003196	Short nose	3190	HNRNPK	OMIM:616580
HP:0003196	Short nose	113189	CHST14	ORPHA:2953
HP:0003196	Short nose	113189	CHST14	OMIM:601776
HP:0003196	Short nose	29940	DSE	ORPHA:2953
HP:0003196	Short nose	29940	DSE	OMIM:615539
HP:0003196	Short nose	10606	PAICS	OMIM:619859
HP:0003196	Short nose	64359	NXN	OMIM:618529
HP:0003196	Short nose	64359	NXN	ORPHA:1507
HP:0003196	Short nose	9326	ZNHIT3	ORPHA:2836
HP:0003196	Short nose	9326	ZNHIT3	OMIM:260565
HP:0003196	Short nose	547	KIF1A	ORPHA:2836
HP:0003196	Short nose	2770	GNAI1	OMIM:619854
HP:0003196	Short nose	1009	CDH11	OMIM:619736
HP:0003196	Short nose	4920	ROR2	ORPHA:1507
HP:0003196	Short nose	4920	ROR2	OMIM:268310
HP:0003196	Short nose	2697	GJA1	ORPHA:2710
HP:0003196	Short nose	2697	GJA1	OMIM:164200
HP:0003196	Short nose	2626	GATA4	ORPHA:251071
HP:0003196	Short nose	857	CAV1	OMIM:606721
HP:0003196	Short nose	4330	MN1	OMIM:618774
HP:0003196	Short nose	4297	KMT2A	ORPHA:319182
HP:0003196	Short nose	1301	COL11A1	OMIM:228520
HP:0003196	Short nose	1301	COL11A1	ORPHA:560
HP:0003196	Short nose	1301	COL11A1	OMIM:154780
HP:0003196	Short nose	23327	NEDD4L	OMIM:617201
HP:0003196	Short nose	2903	GRIN2A	ORPHA:289266
HP:0003196	Short nose	2903	GRIN2A	OMIM:245570
HP:0003196	Short nose	1280	COL2A1	ORPHA:90653
HP:0003196	Short nose	8036	SHOC2	ORPHA:2701
HP:0003196	Short nose	5500	PPP1CB	ORPHA:2701
HP:0003196	Short nose	2783	GNB2	OMIM:619503
HP:0003196	Short nose	26040	SETBP1	OMIM:269150
HP:0003196	Short nose	26040	SETBP1	ORPHA:798
HP:0003196	Short nose	2316	FLNA	ORPHA:90652
HP:0003196	Short nose	2316	FLNA	OMIM:311300
HP:0003196	Short nose	1789	DNMT3B	OMIM:242860
HP:0003196	Short nose	51604	PIGT	OMIM:615398
HP:0003196	Short nose	2200	FBN1	OMIM:614185
HP:0003196	Short nose	2200	FBN1	ORPHA:969
HP:0003196	Short nose	55699	IARS2	OMIM:616007
HP:0003196	Short nose	5048	PAFAH1B1	ORPHA:217385
HP:0003196	Short nose	5048	PAFAH1B1	ORPHA:531
HP:0003196	Short nose	7531	YWHAE	ORPHA:217385
HP:0003196	Short nose	7531	YWHAE	ORPHA:531
HP:0003196	Short nose	27125	AFF4	OMIM:616368
HP:0003196	Short nose	27125	AFF4	ORPHA:444077
HP:0003196	Short nose	9841	ZBTB24	OMIM:614069
HP:0003196	Short nose	415	ARSL	ORPHA:79345
HP:0003196	Short nose	415	ARSL	OMIM:302950
HP:0003196	Short nose	79796	ALG9	ORPHA:79328
HP:0003196	Short nose	79796	ALG9	OMIM:608776
HP:0003196	Short nose	79718	TBL1XR1	OMIM:602342
HP:0003196	Short nose	55210	ATAD3A	ORPHA:496790
HP:0003196	Short nose	55210	ATAD3A	OMIM:617183
HP:0003196	Short nose	8818	DPM2	OMIM:615042
HP:0003196	Short nose	8818	DPM2	ORPHA:329178
HP:0003196	Short nose	7750	ZMYM2	OMIM:619522
HP:0003196	Short nose	27086	FOXP1	ORPHA:391372
HP:0003196	Short nose	27086	FOXP1	OMIM:613670
HP:0003196	Short nose	54928	BPNT2	OMIM:614078
HP:0003196	Short nose	6942	TCF20	OMIM:618430
HP:0003196	Short nose	9772	TMEM94	OMIM:618316
HP:0003196	Short nose	25973	PARS2	OMIM:618437
HP:0003196	Short nose	124583	CANT1	OMIM:251450
HP:0003196	Short nose	56975	FAM20C	ORPHA:1832
HP:0003196	Short nose	56975	FAM20C	OMIM:259775
HP:0003196	Short nose	4208	MEF2C	ORPHA:228384
HP:0003196	Short nose	4208	MEF2C	OMIM:613443
HP:0003196	Short nose	23556	PIGN	OMIM:614080
HP:0003196	Short nose	23556	PIGN	ORPHA:280633
HP:0003196	Short nose	2239	GPC4	ORPHA:373
HP:0003196	Short nose	2239	GPC4	OMIM:312870
HP:0003196	Short nose	2719	GPC3	ORPHA:373
HP:0003196	Short nose	2719	GPC3	OMIM:312870
HP:0003196	Short nose	84168	ANTXR1	OMIM:230740
HP:0003196	Short nose	2317	FLNB	OMIM:272460
HP:0003196	Short nose	2317	FLNB	OMIM:108720
HP:0003196	Short nose	6595	SMARCA2	OMIM:601358
HP:0003196	Short nose	1387	CREBBP	OMIM:618332
HP:0003196	Short nose	8295	TRRAP	OMIM:618454
HP:0003196	Short nose	5881	RAC3	OMIM:618577
HP:0003196	Short nose	54101	RIPK4	OMIM:263650
HP:0003196	Short nose	54101	RIPK4	ORPHA:1234
HP:0003196	Short nose	26173	INTS1	OMIM:618571
HP:0003196	Short nose	1642	DDB1	OMIM:619426
HP:0003196	Short nose	6857	SYT1	OMIM:618218
HP:0003196	Short nose	6857	SYT1	ORPHA:522077
HP:0003196	Short nose	5813	PURA	ORPHA:314655
HP:0003196	Short nose	2737	GLI3	ORPHA:672
HP:0003196	Short nose	2737	GLI3	OMIM:146510
HP:0003196	Short nose	4921	DDR2	OMIM:271665
HP:0003196	Short nose	54892	NCAPG2	OMIM:618460
HP:0003196	Short nose	1859	DYRK1A	ORPHA:268261
HP:0003196	Short nose	8573	CASK	OMIM:300749
HP:0003196	Short nose	23314	SATB2	ORPHA:251028
HP:0003196	Short nose	79813	EHMT1	ORPHA:96147
HP:0003196	Short nose	128869	PIGU	OMIM:618590
HP:0003196	Short nose	1349	COX7B	OMIM:300887
HP:0003196	Short nose	6651	SON	OMIM:617140
HP:0003196	Short nose	6651	SON	ORPHA:500150
HP:0003196	Short nose	8882	ZPR1	OMIM:619321
HP:0003196	Short nose	55777	MBD5	OMIM:156200
HP:0003196	Short nose	4784	NFIX	OMIM:602535
HP:0003196	Short nose	4784	NFIX	ORPHA:561
HP:0003196	Short nose	4784	NFIX	OMIM:614753
HP:0003196	Short nose	4621	MYH3	OMIM:193700
HP:0003196	Short nose	2530	FUT8	OMIM:618005
HP:0003196	Short nose	54496	PRMT7	OMIM:617157
HP:0003196	Short nose	8260	NAA10	OMIM:300855
HP:0003196	Short nose	10082	GPC6	OMIM:258315
HP:0003196	Short nose	10082	GPC6	ORPHA:93329
HP:0003196	Short nose	551	AVP	OMIM:125700
HP:0003196	Short nose	23389	MED13L	ORPHA:369891
HP:0003196	Short nose	2068	ERCC2	OMIM:601675
HP:0003196	Short nose	10013	HDAC6	OMIM:300863
HP:0003196	Short nose	10013	HDAC6	ORPHA:163966
HP:0003196	Short nose	3977	LIFR	OMIM:601559
HP:0003196	Short nose	11342	RNF13	OMIM:618379
HP:0003196	Short nose	11342	RNF13	ORPHA:544503
HP:0003196	Short nose	5144	PDE4D	ORPHA:439822
HP:0003196	Short nose	5144	PDE4D	ORPHA:950
HP:0003196	Short nose	5144	PDE4D	OMIM:614613
HP:0003196	Short nose	9343	EFTUD2	OMIM:610536
HP:0003196	Short nose	9343	EFTUD2	ORPHA:79113
HP:0003196	Short nose	9321	TRIP11	ORPHA:166272
HP:0003196	Short nose	9321	TRIP11	ORPHA:93299
HP:0003196	Short nose	9321	TRIP11	OMIM:200600
HP:0003196	Short nose	4882	NPR2	OMIM:602875
HP:0003196	Short nose	5281	PIGF	OMIM:619356
HP:0003196	Short nose	2290	FOXG1	ORPHA:261144
HP:0003196	Short nose	6711	SPTBN1	OMIM:619475
HP:0003196	Short nose	6608	SMO	OMIM:241800
HP:0003196	Short nose	4796	TONSL	OMIM:271510
HP:0003196	Short nose	4796	TONSL	ORPHA:93357
HP:0003196	Short nose	136647	MPLKIP	OMIM:234050
HP:0003196	Short nose	7204	TRIO	OMIM:617061
HP:0003196	Short nose	7204	TRIO	ORPHA:476126
HP:0003196	Short nose	3636	INPPL1	OMIM:258480
HP:0003196	Short nose	3636	INPPL1	ORPHA:2746
HP:0003196	Short nose	8567	MADD	OMIM:619004
HP:0003196	Short nose	8567	MADD	OMIM:619005
HP:0003196	Short nose	374879	ZNF699	OMIM:619488
HP:0003196	Short nose	9373	PLAA	ORPHA:521426
HP:0003196	Short nose	9373	PLAA	OMIM:617527
HP:0003196	Short nose	64093	SMOC1	OMIM:206920
HP:0003196	Short nose	23169	SLC35D1	OMIM:269250
HP:0003196	Short nose	93587	TRMT10A	ORPHA:391408
HP:0003196	Short nose	84919	PPP1R15B	ORPHA:391408
HP:0003196	Short nose	3090	HIC1	ORPHA:531
HP:0003196	Short nose	5528	PPP2R5D	ORPHA:457279
HP:0003196	Short nose	89970	RSPRY1	ORPHA:457395
HP:0003196	Short nose	89970	RSPRY1	OMIM:616723
HP:0003196	Short nose	7474	WNT5A	OMIM:180700
HP:0003196	Short nose	7474	WNT5A	ORPHA:3107
HP:0003196	Short nose	9897	WASHC5	ORPHA:7
HP:0003196	Short nose	28952	CCDC22	ORPHA:7
HP:0003196	Short nose	129285	PPP1R21	OMIM:619383
HP:0003196	Short nose	2263	FGFR2	OMIM:101600
HP:0003196	Short nose	2263	FGFR2	ORPHA:93260
HP:0003196	Short nose	2263	FGFR2	ORPHA:93258
HP:0003196	Short nose	2263	FGFR2	ORPHA:93259
HP:0003196	Short nose	168667	BMPER	OMIM:608022
HP:0003196	Short nose	5573	PRKAR1A	ORPHA:950
HP:0003196	Short nose	158	ADSL	OMIM:103050
HP:0003196	Short nose	158	ADSL	ORPHA:46
HP:0003196	Short nose	6309	SC5D	ORPHA:46059
HP:0003196	Short nose	6309	SC5D	OMIM:607330
HP:0003196	Short nose	5885	RAD21	OMIM:614701
HP:0003196	Short nose	5885	RAD21	ORPHA:199
HP:0003196	Short nose	673	BRAF	OMIM:115150
HP:0003196	Short nose	673	BRAF	ORPHA:1340
HP:0003196	Short nose	145173	B3GLCT	ORPHA:709
HP:0003196	Short nose	4774	NFIA	OMIM:613735
HP:0003196	Short nose	2629	GBA1	OMIM:608013
HP:0003196	Short nose	5447	POR	ORPHA:95699
HP:0003196	Short nose	9401	RECQL4	OMIM:268400
HP:0003196	Short nose	9401	RECQL4	ORPHA:1225
HP:0003196	Short nose	374654	KIF7	OMIM:200990
HP:0003196	Short nose	89910	UBE3B	OMIM:244450
HP:0003196	Short nose	2314	FLII	ORPHA:819
HP:0003196	Short nose	23096	IQSEC2	ORPHA:819
HP:0003196	Short nose	10743	RAI1	ORPHA:819
HP:0003196	Short nose	10522	DEAF1	ORPHA:819
HP:0003196	Short nose	10978	CLP1	OMIM:615803
HP:0003196	Short nose	10225	CD96	OMIM:211750
HP:0003196	Short nose	10225	CD96	ORPHA:1308
HP:0003196	Short nose	4038	LRP4	ORPHA:3258
HP:0003196	Short nose	324	APC	ORPHA:3258
HP:0003196	Short nose	6197	RPS6KA3	OMIM:303600
HP:0003196	Short nose	4001	LMNB1	OMIM:619179
HP:0003196	Short nose	8913	CACNA1G	OMIM:618087
HP:0003196	Short nose	1889	ECE1	OMIM:613870
HP:0003196	Short nose	4054	LTBP3	ORPHA:969
HP:0003196	Short nose	4338	MOCS2	OMIM:252160
HP:0003196	Short nose	79867	TCTN2	OMIM:613885
HP:0003196	Short nose	1028	CDKN1C	OMIM:614732
HP:0003196	Short nose	2752	GLUL	OMIM:610015
HP:0003196	Short nose	4036	LRP2	ORPHA:2143
HP:0003196	Short nose	4036	LRP2	OMIM:222448
HP:0003196	Short nose	83879	CDCA7	OMIM:616910
HP:0003196	Short nose	25942	SIN3A	OMIM:613406
HP:0003196	Short nose	175	AGA	ORPHA:93
HP:0003196	Short nose	5063	PAK3	OMIM:300558
HP:0003196	Short nose	2677	GGCX	OMIM:277450
HP:0003196	Short nose	1857	DVL3	ORPHA:3107
HP:0003196	Short nose	1857	DVL3	OMIM:616894
HP:0003196	Short nose	2535	FZD2	ORPHA:3107
HP:0003196	Short nose	2535	FZD2	ORPHA:93328
HP:0003196	Short nose	5190	PEX6	OMIM:614863
HP:0003196	Short nose	6201	RPS7	OMIM:612563
HP:0003196	Short nose	6804	STX1A	ORPHA:904
HP:0003196	Short nose	7461	CLIP2	ORPHA:904
HP:0003196	Short nose	84277	DNAJC30	ORPHA:904
HP:0003196	Short nose	8468	FKBP6	ORPHA:904
HP:0003196	Short nose	5982	RFC2	ORPHA:904
HP:0003196	Short nose	2969	GTF2I	ORPHA:904
HP:0003196	Short nose	3984	LIMK1	ORPHA:904
HP:0003196	Short nose	9569	GTF2IRD1	ORPHA:904
HP:0003196	Short nose	155382	VPS37D	ORPHA:904
HP:0003196	Short nose	155368	METTL27	ORPHA:904
HP:0003196	Short nose	114049	BUD23	ORPHA:904
HP:0003196	Short nose	7458	EIF4H	ORPHA:904
HP:0003196	Short nose	84163	GTF2IRD2	ORPHA:904
HP:0003196	Short nose	9275	BCL7B	ORPHA:904
HP:0003196	Short nose	26608	TBL2	ORPHA:904
HP:0003196	Short nose	653361	NCF1	ORPHA:904
HP:0003196	Short nose	135886	TMEM270	ORPHA:904
HP:0003196	Short nose	51085	MLXIPL	ORPHA:904
HP:0003196	Short nose	51085	MLXIPL	OMIM:194050
HP:0003196	Short nose	9031	BAZ1B	ORPHA:904
HP:0003196	Short nose	2006	ELN	ORPHA:904
HP:0003196	Short nose	2006	ELN	OMIM:194050
HP:0003196	Short nose	3211	HOXB1	OMIM:614744
HP:0003196	Short nose	84720	PIGO	OMIM:614749
HP:0003196	Short nose	81031	SLC2A10	ORPHA:3342
HP:0003196	Short nose	54499	TMCO1	OMIM:213980
HP:0003196	Short nose	54499	TMCO1	ORPHA:1394
HP:0003196	Short nose	9719	ADAMTSL2	OMIM:231050
HP:0003196	Short nose	93210	PGAP3	OMIM:615716
HP:0003196	Short nose	4094	MAF	ORPHA:1272
HP:0003196	Short nose	4094	MAF	OMIM:601088
HP:0003196	Short nose	5159	PDGFRB	OMIM:601812
HP:0003196	Short nose	3845	KRAS	ORPHA:3339
HP:0003196	Short nose	3845	KRAS	ORPHA:1340
HP:0003196	Short nose	3845	KRAS	OMIM:609942
HP:0003196	Short nose	51322	WAC	ORPHA:284169
HP:0003196	Short nose	55275	VPS53	OMIM:615851
HP:0003196	Short nose	1302	COL11A2	OMIM:614524
HP:0003196	Short nose	1836	SLC26A2	ORPHA:93298
HP:0003196	Short nose	80324	PUS1	ORPHA:2598
HP:0003196	Short nose	51067	YARS2	ORPHA:2598
HP:0003196	Short nose	701	BUB1B	OMIM:257300
HP:0003196	Short nose	5631	PRPS1	OMIM:300661
HP:0003196	Short nose	51025	PAM16	OMIM:613320
HP:0003196	Short nose	51053	GMNN	OMIM:616835
HP:0003196	Short nose	7407	VARS1	OMIM:617802
HP:0003196	Short nose	6664	SOX11	OMIM:615866
HP:0003196	Short nose	6664	SOX11	ORPHA:1465
HP:0003196	Short nose	10075	HUWE1	OMIM:309590
HP:0003196	Short nose	91949	COG7	OMIM:608779
HP:0003196	Short nose	2245	FGD1	OMIM:305400
HP:0003196	Short nose	8243	SMC1A	OMIM:301044
HP:0003196	Short nose	8243	SMC1A	ORPHA:199
HP:0003196	Short nose	22856	CHSY1	ORPHA:363417
HP:0003196	Short nose	23394	ADNP	OMIM:615873
HP:0003196	Short nose	546	ATRX	OMIM:301040
HP:0003196	Short nose	79650	USB1	OMIM:604173
HP:0003196	Short nose	113179	ADAT3	ORPHA:363528
HP:0003196	Short nose	84162	BLTP1	OMIM:617822
HP:0003196	Short nose	3313	HSPA9	OMIM:616854
HP:0003196	Short nose	3767	KCNJ11	ORPHA:79134
HP:0003196	Short nose	79731	NARS2	ORPHA:79134
HP:0003196	Short nose	6833	ABCC8	ORPHA:79134
HP:0003196	Short nose	10269	ZMPSTE24	ORPHA:90154
HP:0003196	Short nose	10269	ZMPSTE24	OMIM:608612
HP:0003196	Short nose	389827	MYMK	ORPHA:1358
HP:0003196	Short nose	101929726	MYMX	ORPHA:1358
HP:0003196	Short nose	6597	SMARCA4	ORPHA:1465
HP:0003196	Short nose	6598	SMARCB1	ORPHA:1465
HP:0003196	Short nose	8289	ARID1A	ORPHA:1465
HP:0003196	Short nose	5977	DPF2	ORPHA:1465
HP:0003196	Short nose	6601	SMARCC2	ORPHA:1465
HP:0003196	Short nose	6602	SMARCD1	ORPHA:1465
HP:0003196	Short nose	57492	ARID1B	ORPHA:1465
HP:0003196	Short nose	196528	ARID2	ORPHA:1465
HP:0003196	Short nose	6605	SMARCE1	ORPHA:1465
HP:0003196	Short nose	27315	PGAP2	OMIM:614207
HP:0003196	Short nose	5604	MAP2K1	ORPHA:1340
HP:0003196	Short nose	5605	MAP2K2	ORPHA:1340
HP:0003196	Short nose	259232	NALCN	OMIM:615419
HP:0003196	Short nose	197131	UBR1	ORPHA:2315
HP:0003196	Short nose	5422	POLA1	OMIM:301030
HP:0003196	Short nose	5745	PTH1R	ORPHA:50945
HP:0003196	Short nose	84188	FAR1	ORPHA:438178
HP:0003196	Short nose	8985	PLOD3	OMIM:612394
HP:0003196	Short nose	25	ABL1	OMIM:617602
HP:0003196	Short nose	2475	MTOR	OMIM:616638
HP:0003196	Short nose	6638	SNRPN	ORPHA:177907
HP:0003196	Short nose	2313	FLI1	ORPHA:2308
HP:0003196	Short nose	9361	LONP1	ORPHA:1458
HP:0003196	Short nose	60	ACTB	OMIM:243310
HP:0003196	Short nose	23476	BRD4	ORPHA:199
HP:0003196	Short nose	9126	SMC3	ORPHA:199
HP:0003196	Short nose	25836	NIPBL	ORPHA:199
HP:0003196	Short nose	55869	HDAC8	ORPHA:199
HP:0003196	Short nose	10664	CTCF	ORPHA:363611
HP:0003196	Short nose	25782	RAB3GAP2	OMIM:614225
HP:0003196	Short nose	25782	RAB3GAP2	ORPHA:2510
HP:0003196	Short nose	22931	RAB18	OMIM:614222
HP:0003196	Short nose	22931	RAB18	ORPHA:2510
HP:0003196	Short nose	4337	MOCS1	OMIM:252150
HP:0003196	Short nose	29957	SLC25A24	OMIM:612289
HP:0003196	Short nose	25885	POLR1A	ORPHA:1200
HP:0003196	Short nose	10907	TXNL4A	ORPHA:1200
HP:0003196	Short nose	4659	PPP1R12A	OMIM:618820
HP:0003196	Short nose	4329	ALDH6A1	OMIM:614105
HP:0003196	Short nose	8405	SPOP	OMIM:618828
HP:0003196	Short nose	23545	ATP6V0A2	OMIM:219200
HP:0003196	Short nose	23545	ATP6V0A2	ORPHA:357074
HP:0003196	Short nose	4893	NRAS	OMIM:137550
HP:0003196	Short nose	3265	HRAS	OMIM:137550
HP:0003196	Short nose	9702	CEP57	OMIM:614114
HP:0003196	Short nose	57688	ZSWIM6	OMIM:617865
HP:0003196	Short nose	202018	TAPT1	OMIM:616897
HP:0003196	Short nose	55704	CCDC88A	OMIM:617507
HP:0003196	Short nose	54676	GTPBP2	OMIM:617988
HP:0003196	Short nose	126792	B3GALT6	ORPHA:536467
HP:0003196	Short nose	5331	PLCB3	OMIM:618961
HP:0003196	Short nose	9320	TRIP12	OMIM:617752
HP:0003196	Short nose	523	ATP6V1A	ORPHA:357074
HP:0003196	Short nose	529	ATP6V1E1	ORPHA:357074
HP:0003196	Short nose	29920	PYCR2	OMIM:616420
HP:0003196	Short nose	55023	PHIP	OMIM:617991
HP:0003196	Short nose	650	BMP2	OMIM:617877
HP:0003196	Short nose	7476	WNT7A	ORPHA:2879
HP:0003196	Short nose	5449	POU1F1	OMIM:613038
HP:0003196	Short nose	22930	RAB3GAP1	ORPHA:2510
HP:0003196	Short nose	128637	TBC1D20	ORPHA:2510
HP:0003196	Short nose	26123	TCTN3	ORPHA:2753
HP:0003196	Short nose	11141	IL1RAPL1	OMIM:300143
HP:0003196	Short nose	1806	DPYD	ORPHA:293948
HP:0003196	Short nose	92935	MARS2	OMIM:616430
HP:0003196	Short nose	22827	PUF60	OMIM:615583
HP:0003196	Short nose	8398	PLA2G6	OMIM:256600
HP:0003196	Short nose	406932	MIR140	OMIM:618618
HP:0003196	Short nose	58499	ZNF462	OMIM:618619
HP:0003196	Short nose	9990	SLC12A6	OMIM:218000
HP:0005289	Abnormality of the nasolabial region	4763	NF1	OMIM:601321
HP:0005289	Abnormality of the nasolabial region	27086	FOXP1	ORPHA:391372
HP:0005289	Abnormality of the nasolabial region	23545	ATP6V0A2	ORPHA:357074
HP:0005289	Abnormality of the nasolabial region	23545	ATP6V0A2	ORPHA:2834
HP:0005289	Abnormality of the nasolabial region	523	ATP6V1A	ORPHA:357074
HP:0005289	Abnormality of the nasolabial region	529	ATP6V1E1	ORPHA:357074
HP:0005289	Abnormality of the nasolabial region	259232	NALCN	OMIM:616266
HP:0005289	Abnormality of the nasolabial region	4052	LTBP1	OMIM:619451
HP:0005289	Abnormality of the nasolabial region	8260	NAA10	OMIM:300855
HP:0005289	Abnormality of the nasolabial region	113189	CHST14	ORPHA:2953
HP:0005289	Abnormality of the nasolabial region	29940	DSE	ORPHA:2953
HP:0005289	Abnormality of the nasolabial region	1861	TOR1A	OMIM:618947
HP:0005289	Abnormality of the nasolabial region	8239	USP9X	ORPHA:480880
HP:0005289	Abnormality of the nasolabial region	2783	GNB2	OMIM:619503
HP:0005289	Abnormality of the nasolabial region	4604	MYBPC1	OMIM:618524
HP:0005289	Abnormality of the nasolabial region	200734	SPRED2	OMIM:619745
HP:0005289	Abnormality of the nasolabial region	7136	TNNI2	OMIM:601680
HP:0005289	Abnormality of the nasolabial region	11253	MAN1B1	OMIM:614202
HP:0005289	Abnormality of the nasolabial region	11253	MAN1B1	ORPHA:397941
HP:0005289	Abnormality of the nasolabial region	283209	PGM2L1	OMIM:620191
HP:0005289	Abnormality of the nasolabial region	6638	SNRPN	ORPHA:177907
HP:0005288	Abnormal nostril morphology	2137	EXTL3	ORPHA:508533
HP:0005288	Abnormal nostril morphology	1718	DHCR24	OMIM:602398
HP:0005288	Abnormal nostril morphology	8367	H4C5	OMIM:619950
HP:0005288	Abnormal nostril morphology	340533	NEXMIF	OMIM:300912
HP:0005288	Abnormal nostril morphology	340533	NEXMIF	ORPHA:1942
HP:0005288	Abnormal nostril morphology	6659	SOX4	OMIM:618506
HP:0005288	Abnormal nostril morphology	6659	SOX4	ORPHA:1465
HP:0005288	Abnormal nostril morphology	9820	CUL7	ORPHA:2616
HP:0005288	Abnormal nostril morphology	9820	CUL7	OMIM:273750
HP:0005288	Abnormal nostril morphology	23363	OBSL1	ORPHA:2616
HP:0005288	Abnormal nostril morphology	23363	OBSL1	OMIM:612921
HP:0005288	Abnormal nostril morphology	83987	CCDC8	ORPHA:2616
HP:0005288	Abnormal nostril morphology	83987	CCDC8	OMIM:614205
HP:0005288	Abnormal nostril morphology	81857	MED25	OMIM:616449
HP:0005288	Abnormal nostril morphology	81857	MED25	ORPHA:464738
HP:0005288	Abnormal nostril morphology	5457	POU4F1	ORPHA:314647
HP:0005288	Abnormal nostril morphology	23261	CAMTA1	ORPHA:314647
HP:0005288	Abnormal nostril morphology	23261	CAMTA1	OMIM:614756
HP:0005288	Abnormal nostril morphology	55209	SETD5	ORPHA:404440
HP:0005288	Abnormal nostril morphology	55209	SETD5	OMIM:615761
HP:0005288	Abnormal nostril morphology	116931	MED12L	OMIM:618872
HP:0005288	Abnormal nostril morphology	9578	CDC42BPB	OMIM:619841
HP:0005288	Abnormal nostril morphology	3020	H3-3A	OMIM:619720
HP:0005288	Abnormal nostril morphology	10300	KATNB1	OMIM:616212
HP:0005288	Abnormal nostril morphology	80816	ASXL3	OMIM:615485
HP:0005288	Abnormal nostril morphology	6536	SLC6A9	OMIM:617301
HP:0005288	Abnormal nostril morphology	51741	WWOX	OMIM:616211
HP:0005288	Abnormal nostril morphology	1855	DVL1	OMIM:616331
HP:0005288	Abnormal nostril morphology	1855	DVL1	OMIM:180700
HP:0005288	Abnormal nostril morphology	1855	DVL1	ORPHA:3107
HP:0005288	Abnormal nostril morphology	55790	CSGALNACT1	OMIM:618870
HP:0005288	Abnormal nostril morphology	55790	CSGALNACT1	ORPHA:1425
HP:0005288	Abnormal nostril morphology	5830	PEX5	OMIM:202370
HP:0005288	Abnormal nostril morphology	5830	PEX5	ORPHA:44
HP:0005288	Abnormal nostril morphology	23322	RPGRIP1L	ORPHA:220497
HP:0005288	Abnormal nostril morphology	23322	RPGRIP1L	ORPHA:1454
HP:0005288	Abnormal nostril morphology	4867	NPHP1	ORPHA:220497
HP:0005288	Abnormal nostril morphology	65062	TMEM237	ORPHA:220497
HP:0005288	Abnormal nostril morphology	65062	TMEM237	ORPHA:475
HP:0005288	Abnormal nostril morphology	65062	TMEM237	ORPHA:2318
HP:0005288	Abnormal nostril morphology	79639	TMEM53	OMIM:619727
HP:0005288	Abnormal nostril morphology	72	ACTG2	ORPHA:2604
HP:0005288	Abnormal nostril morphology	54806	AHI1	ORPHA:220493
HP:0005288	Abnormal nostril morphology	54806	AHI1	ORPHA:475
HP:0005288	Abnormal nostril morphology	54806	AHI1	ORPHA:791
HP:0005288	Abnormal nostril morphology	54806	AHI1	OMIM:608629
HP:0005288	Abnormal nostril morphology	56623	INPP5E	ORPHA:220493
HP:0005288	Abnormal nostril morphology	56623	INPP5E	ORPHA:475
HP:0005288	Abnormal nostril morphology	56623	INPP5E	OMIM:213300
HP:0005288	Abnormal nostril morphology	56623	INPP5E	ORPHA:1454
HP:0005288	Abnormal nostril morphology	153241	CEP120	ORPHA:220493
HP:0005288	Abnormal nostril morphology	153241	CEP120	ORPHA:475
HP:0005288	Abnormal nostril morphology	54903	MKS1	ORPHA:220493
HP:0005288	Abnormal nostril morphology	54903	MKS1	ORPHA:475
HP:0005288	Abnormal nostril morphology	95681	CEP41	ORPHA:220493
HP:0005288	Abnormal nostril morphology	95681	CEP41	ORPHA:475
HP:0005288	Abnormal nostril morphology	5728	PTEN	ORPHA:2969
HP:0005288	Abnormal nostril morphology	5728	PTEN	ORPHA:109
HP:0005288	Abnormal nostril morphology	5728	PTEN	ORPHA:744
HP:0005288	Abnormal nostril morphology	129563	DIS3L2	ORPHA:2849
HP:0005288	Abnormal nostril morphology	3764	KCNJ8	ORPHA:1517
HP:0005288	Abnormal nostril morphology	10060	ABCC9	ORPHA:1517
HP:0005288	Abnormal nostril morphology	10060	ABCC9	OMIM:239850
HP:0005288	Abnormal nostril morphology	79158	GNPTAB	OMIM:252500
HP:0005288	Abnormal nostril morphology	57539	WDR35	ORPHA:1515
HP:0005288	Abnormal nostril morphology	112752	IFT43	ORPHA:1515
HP:0005288	Abnormal nostril morphology	51098	IFT52	ORPHA:1515
HP:0005288	Abnormal nostril morphology	55764	IFT122	ORPHA:1515
HP:0005288	Abnormal nostril morphology	55764	IFT122	OMIM:218330
HP:0005288	Abnormal nostril morphology	57728	WDR19	ORPHA:1515
HP:0005288	Abnormal nostril morphology	57728	WDR19	OMIM:614378
HP:0005288	Abnormal nostril morphology	5189	PEX1	OMIM:214100
HP:0005288	Abnormal nostril morphology	5189	PEX1	ORPHA:44
HP:0005288	Abnormal nostril morphology	2260	FGFR1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	2260	FGFR1	OMIM:166250
HP:0005288	Abnormal nostril morphology	2260	FGFR1	ORPHA:2645
HP:0005288	Abnormal nostril morphology	28514	DLL1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	2253	FGF8	ORPHA:280200
HP:0005288	Abnormal nostril morphology	6496	SIX3	ORPHA:280200
HP:0005288	Abnormal nostril morphology	7050	TGIF1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	4838	NODAL	ORPHA:280200
HP:0005288	Abnormal nostril morphology	6469	SHH	ORPHA:280200
HP:0005288	Abnormal nostril morphology	51684	SUFU	ORPHA:280200
HP:0005288	Abnormal nostril morphology	51684	SUFU	ORPHA:475
HP:0005288	Abnormal nostril morphology	7546	ZIC2	ORPHA:280200
HP:0005288	Abnormal nostril morphology	7546	ZIC2	OMIM:609637
HP:0005288	Abnormal nostril morphology	2619	GAS1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	84976	DISP1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	2736	GLI2	ORPHA:280200
HP:0005288	Abnormal nostril morphology	8928	FOXH1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	5727	PTCH1	ORPHA:280200
HP:0005288	Abnormal nostril morphology	50937	CDON	ORPHA:280200
HP:0005288	Abnormal nostril morphology	6023	RMRP	ORPHA:175
HP:0005288	Abnormal nostril morphology	57589	RIC1	OMIM:618761
HP:0005288	Abnormal nostril morphology	79868	ALG13	ORPHA:324422
HP:0005288	Abnormal nostril morphology	79868	ALG13	OMIM:300884
HP:0005288	Abnormal nostril morphology	317662	FAM149B1	OMIM:618763
HP:0005288	Abnormal nostril morphology	55870	ASH1L	OMIM:617796
HP:0005288	Abnormal nostril morphology	10606	PAICS	OMIM:619859
HP:0005288	Abnormal nostril morphology	11232	POLG2	OMIM:618528
HP:0005288	Abnormal nostril morphology	4853	NOTCH2	OMIM:102500
HP:0005288	Abnormal nostril morphology	4853	NOTCH2	ORPHA:955
HP:0005288	Abnormal nostril morphology	64359	NXN	OMIM:618529
HP:0005288	Abnormal nostril morphology	64359	NXN	ORPHA:1507
HP:0005288	Abnormal nostril morphology	9326	ZNHIT3	ORPHA:2836
HP:0005288	Abnormal nostril morphology	547	KIF1A	ORPHA:2836
HP:0005288	Abnormal nostril morphology	2770	GNAI1	OMIM:619854
HP:0005288	Abnormal nostril morphology	4920	ROR2	ORPHA:1507
HP:0005288	Abnormal nostril morphology	4920	ROR2	OMIM:268310
HP:0005288	Abnormal nostril morphology	2697	GJA1	ORPHA:2710
HP:0005288	Abnormal nostril morphology	2697	GJA1	OMIM:164200
HP:0005288	Abnormal nostril morphology	1302	COL11A2	OMIM:184840
HP:0005288	Abnormal nostril morphology	1302	COL11A2	ORPHA:2021
HP:0005288	Abnormal nostril morphology	1302	COL11A2	OMIM:614524
HP:0005288	Abnormal nostril morphology	1302	COL11A2	OMIM:215150
HP:0005288	Abnormal nostril morphology	1302	COL11A2	ORPHA:1427
HP:0005288	Abnormal nostril morphology	6872	TAF1	ORPHA:480907
HP:0005288	Abnormal nostril morphology	6872	TAF1	OMIM:300966
HP:0005288	Abnormal nostril morphology	171023	ASXL1	ORPHA:97297
HP:0005288	Abnormal nostril morphology	171023	ASXL1	OMIM:605039
HP:0005288	Abnormal nostril morphology	10484	SEC23A	OMIM:607812
HP:0005288	Abnormal nostril morphology	10087	CERT1	OMIM:616351
HP:0005288	Abnormal nostril morphology	54968	TMEM70	OMIM:614052
HP:0005288	Abnormal nostril morphology	4330	MN1	OMIM:618774
HP:0005288	Abnormal nostril morphology	5442	POLRMT	OMIM:619743
HP:0005288	Abnormal nostril morphology	1301	COL11A1	OMIM:228520
HP:0005288	Abnormal nostril morphology	1301	COL11A1	OMIM:604841
HP:0005288	Abnormal nostril morphology	1301	COL11A1	ORPHA:560
HP:0005288	Abnormal nostril morphology	1301	COL11A1	OMIM:154780
HP:0005288	Abnormal nostril morphology	1301	COL11A1	ORPHA:2021
HP:0005288	Abnormal nostril morphology	57231	SNX14	OMIM:616354
HP:0005288	Abnormal nostril morphology	23327	NEDD4L	OMIM:617201
HP:0005288	Abnormal nostril morphology	8036	SHOC2	ORPHA:2701
HP:0005288	Abnormal nostril morphology	5500	PPP1CB	ORPHA:2701
HP:0005288	Abnormal nostril morphology	5813	PURA	ORPHA:438216
HP:0005288	Abnormal nostril morphology	5813	PURA	OMIM:616158
HP:0005288	Abnormal nostril morphology	5813	PURA	ORPHA:314655
HP:0005288	Abnormal nostril morphology	26040	SETBP1	OMIM:269150
HP:0005288	Abnormal nostril morphology	8241	RBM10	OMIM:311900
HP:0005288	Abnormal nostril morphology	8241	RBM10	ORPHA:2886
HP:0005288	Abnormal nostril morphology	57167	SALL4	ORPHA:233
HP:0005288	Abnormal nostril morphology	9935	MAFB	ORPHA:233
HP:0005288	Abnormal nostril morphology	1123	CHN1	ORPHA:233
HP:0005288	Abnormal nostril morphology	79600	TCTN1	ORPHA:475
HP:0005288	Abnormal nostril morphology	79848	CSPP1	ORPHA:475
HP:0005288	Abnormal nostril morphology	65250	CPLANE1	ORPHA:475
HP:0005288	Abnormal nostril morphology	91147	TMEM67	ORPHA:475
HP:0005288	Abnormal nostril morphology	91147	TMEM67	OMIM:216360
HP:0005288	Abnormal nostril morphology	91147	TMEM67	ORPHA:1454
HP:0005288	Abnormal nostril morphology	200894	ARL13B	ORPHA:475
HP:0005288	Abnormal nostril morphology	9731	CEP104	ORPHA:475
HP:0005288	Abnormal nostril morphology	219844	HYLS1	ORPHA:475
HP:0005288	Abnormal nostril morphology	23247	KATNIP	ORPHA:475
HP:0005288	Abnormal nostril morphology	23247	KATNIP	OMIM:616784
HP:0005288	Abnormal nostril morphology	219854	TMEM218	ORPHA:475
HP:0005288	Abnormal nostril morphology	9786	KIAA0586	ORPHA:475
HP:0005288	Abnormal nostril morphology	79867	TCTN2	ORPHA:475
HP:0005288	Abnormal nostril morphology	80776	B9D2	ORPHA:475
HP:0005288	Abnormal nostril morphology	10464	PIBF1	ORPHA:475
HP:0005288	Abnormal nostril morphology	80210	ARMC9	ORPHA:475
HP:0005288	Abnormal nostril morphology	23116	TOGARAM1	ORPHA:475
HP:0005288	Abnormal nostril morphology	23116	TOGARAM1	OMIM:619185
HP:0005288	Abnormal nostril morphology	25776	CBY1	ORPHA:475
HP:0005288	Abnormal nostril morphology	27077	B9D1	ORPHA:475
HP:0005288	Abnormal nostril morphology	403	ARL3	ORPHA:475
HP:0005288	Abnormal nostril morphology	403	ARL3	ORPHA:791
HP:0005288	Abnormal nostril morphology	403	ARL3	OMIM:618161
HP:0005288	Abnormal nostril morphology	1789	DNMT3B	OMIM:242860
HP:0005288	Abnormal nostril morphology	5518	PPP2R1A	OMIM:616362
HP:0005288	Abnormal nostril morphology	5518	PPP2R1A	ORPHA:457284
HP:0005288	Abnormal nostril morphology	253738	EBF3	OMIM:617330
HP:0005288	Abnormal nostril morphology	55768	NGLY1	OMIM:615273
HP:0005288	Abnormal nostril morphology	8493	PPM1D	OMIM:617450
HP:0005288	Abnormal nostril morphology	85301	COL27A1	OMIM:615155
HP:0005288	Abnormal nostril morphology	51604	PIGT	OMIM:615398
HP:0005288	Abnormal nostril morphology	5792	PTPRF	OMIM:616001
HP:0005288	Abnormal nostril morphology	3572	IL6ST	OMIM:619750
HP:0005288	Abnormal nostril morphology	3845	KRAS	OMIM:615278
HP:0005288	Abnormal nostril morphology	3845	KRAS	ORPHA:3339
HP:0005288	Abnormal nostril morphology	3845	KRAS	ORPHA:1340
HP:0005288	Abnormal nostril morphology	3845	KRAS	OMIM:609942
HP:0005288	Abnormal nostril morphology	27125	AFF4	OMIM:616368
HP:0005288	Abnormal nostril morphology	27125	AFF4	ORPHA:444077
HP:0005288	Abnormal nostril morphology	9841	ZBTB24	OMIM:614069
HP:0005288	Abnormal nostril morphology	51692	CPSF3	OMIM:619876
HP:0005288	Abnormal nostril morphology	3098	HK1	OMIM:618547
HP:0005288	Abnormal nostril morphology	79770	TXNDC15	OMIM:619879
HP:0005288	Abnormal nostril morphology	9091	PIGQ	OMIM:618548
HP:0005288	Abnormal nostril morphology	9091	PIGQ	ORPHA:1934
HP:0005288	Abnormal nostril morphology	285362	SUMF1	OMIM:272200
HP:0005288	Abnormal nostril morphology	285362	SUMF1	ORPHA:585
HP:0005288	Abnormal nostril morphology	26137	ZBTB20	OMIM:259050
HP:0005288	Abnormal nostril morphology	8314	BAP1	OMIM:619762
HP:0005288	Abnormal nostril morphology	7750	ZMYM2	OMIM:619522
HP:0005288	Abnormal nostril morphology	8733	GPAA1	ORPHA:529665
HP:0005288	Abnormal nostril morphology	8733	GPAA1	OMIM:617810
HP:0005288	Abnormal nostril morphology	253959	RALGAPA1	OMIM:618797
HP:0005288	Abnormal nostril morphology	53335	BCL11A	OMIM:617101
HP:0005288	Abnormal nostril morphology	4849	CNOT3	OMIM:618672
HP:0005288	Abnormal nostril morphology	4285	MIPEP	OMIM:617228
HP:0005288	Abnormal nostril morphology	9928	KIF14	OMIM:616258
HP:0005288	Abnormal nostril morphology	2263	FGFR2	OMIM:123790
HP:0005288	Abnormal nostril morphology	2263	FGFR2	ORPHA:1555
HP:0005288	Abnormal nostril morphology	9772	TMEM94	OMIM:618316
HP:0005288	Abnormal nostril morphology	25973	PARS2	OMIM:618437
HP:0005288	Abnormal nostril morphology	79971	WLS	OMIM:619648
HP:0005288	Abnormal nostril morphology	56975	FAM20C	ORPHA:1832
HP:0005288	Abnormal nostril morphology	2271	FH	OMIM:606812
HP:0005288	Abnormal nostril morphology	4208	MEF2C	ORPHA:228384
HP:0005288	Abnormal nostril morphology	4208	MEF2C	OMIM:613443
HP:0005288	Abnormal nostril morphology	5373	PMM2	ORPHA:79318
HP:0005288	Abnormal nostril morphology	23556	PIGN	OMIM:614080
HP:0005288	Abnormal nostril morphology	23556	PIGN	ORPHA:2059
HP:0005288	Abnormal nostril morphology	23556	PIGN	ORPHA:280633
HP:0005288	Abnormal nostril morphology	2239	GPC4	ORPHA:373
HP:0005288	Abnormal nostril morphology	2239	GPC4	OMIM:312870
HP:0005288	Abnormal nostril morphology	2719	GPC3	ORPHA:373
HP:0005288	Abnormal nostril morphology	2719	GPC3	OMIM:312870
HP:0005288	Abnormal nostril morphology	23007	PLCH1	OMIM:619895
HP:0005288	Abnormal nostril morphology	23162	MAPK8IP3	OMIM:618443
HP:0005288	Abnormal nostril morphology	54941	RNF125	OMIM:616260
HP:0005288	Abnormal nostril morphology	79989	IFT56	OMIM:619534
HP:0005288	Abnormal nostril morphology	259232	NALCN	OMIM:616266
HP:0005288	Abnormal nostril morphology	259232	NALCN	ORPHA:371364
HP:0005288	Abnormal nostril morphology	84168	ANTXR1	OMIM:230740
HP:0005288	Abnormal nostril morphology	84168	ANTXR1	ORPHA:2067
HP:0005288	Abnormal nostril morphology	25836	NIPBL	OMIM:122470
HP:0005288	Abnormal nostril morphology	25836	NIPBL	ORPHA:199
HP:0005288	Abnormal nostril morphology	2317	FLNB	OMIM:272460
HP:0005288	Abnormal nostril morphology	6513	SLC2A1	ORPHA:1942
HP:0005288	Abnormal nostril morphology	8831	SYNGAP1	ORPHA:1942
HP:0005288	Abnormal nostril morphology	1173	AP2M1	ORPHA:1942
HP:0005288	Abnormal nostril morphology	6323	SCN1A	ORPHA:1942
HP:0005288	Abnormal nostril morphology	1106	CHD2	ORPHA:1942
HP:0005288	Abnormal nostril morphology	6529	SLC6A1	ORPHA:1942
HP:0005288	Abnormal nostril morphology	9896	FIG4	OMIM:216340
HP:0005288	Abnormal nostril morphology	9896	FIG4	ORPHA:3472
HP:0005288	Abnormal nostril morphology	6595	SMARCA2	OMIM:601358
HP:0005288	Abnormal nostril morphology	6595	SMARCA2	ORPHA:3051
HP:0005288	Abnormal nostril morphology	6595	SMARCA2	OMIM:619293
HP:0005288	Abnormal nostril morphology	1387	CREBBP	OMIM:618332
HP:0005288	Abnormal nostril morphology	8295	TRRAP	OMIM:618454
HP:0005288	Abnormal nostril morphology	5881	RAC3	OMIM:618577
HP:0005288	Abnormal nostril morphology	60529	ALX4	ORPHA:228390
HP:0005288	Abnormal nostril morphology	60529	ALX4	OMIM:613451
HP:0005288	Abnormal nostril morphology	9427	ECEL1	OMIM:615065
HP:0005288	Abnormal nostril morphology	5587	PRKD1	OMIM:617364
HP:0005288	Abnormal nostril morphology	9851	KIAA0753	OMIM:617127
HP:0005288	Abnormal nostril morphology	51013	EXOSC1	OMIM:619304
HP:0005288	Abnormal nostril morphology	1642	DDB1	OMIM:619426
HP:0005288	Abnormal nostril morphology	6792	CDKL5	ORPHA:1934
HP:0005288	Abnormal nostril morphology	6792	CDKL5	OMIM:300672
HP:0005288	Abnormal nostril morphology	3736	KCNA1	ORPHA:1934
HP:0005288	Abnormal nostril morphology	2775	GNAO1	ORPHA:1934
HP:0005288	Abnormal nostril morphology	81603	TRIM8	ORPHA:1934
HP:0005288	Abnormal nostril morphology	2902	GRIN1	ORPHA:1934
HP:0005288	Abnormal nostril morphology	79751	SLC25A22	ORPHA:1934
HP:0005288	Abnormal nostril morphology	150094	SIK1	ORPHA:1934
HP:0005288	Abnormal nostril morphology	8573	CASK	ORPHA:1934
HP:0005288	Abnormal nostril morphology	23312	DMXL2	ORPHA:1934
HP:0005288	Abnormal nostril morphology	2917	GRM7	ORPHA:1934
HP:0005288	Abnormal nostril morphology	170302	ARX	ORPHA:1934
HP:0005288	Abnormal nostril morphology	11284	PNKP	ORPHA:1934
HP:0005288	Abnormal nostril morphology	6326	SCN2A	ORPHA:1934
HP:0005288	Abnormal nostril morphology	51227	PIGP	ORPHA:1934
HP:0005288	Abnormal nostril morphology	6324	SCN1B	ORPHA:1934
HP:0005288	Abnormal nostril morphology	4761	NEUROD2	ORPHA:1934
HP:0005288	Abnormal nostril morphology	389827	MYMK	OMIM:254940
HP:0005288	Abnormal nostril morphology	389827	MYMK	ORPHA:1358
HP:0005288	Abnormal nostril morphology	2737	GLI3	ORPHA:672
HP:0005288	Abnormal nostril morphology	2737	GLI3	OMIM:146510
HP:0005288	Abnormal nostril morphology	9361	LONP1	OMIM:600373
HP:0005288	Abnormal nostril morphology	9361	LONP1	ORPHA:1458
HP:0005288	Abnormal nostril morphology	92840	REEP6	ORPHA:791
HP:0005288	Abnormal nostril morphology	6094	ROM1	ORPHA:791
HP:0005288	Abnormal nostril morphology	6017	RLBP1	ORPHA:791
HP:0005288	Abnormal nostril morphology	7401	CLRN1	ORPHA:791
HP:0005288	Abnormal nostril morphology	24	ABCA4	ORPHA:791
HP:0005288	Abnormal nostril morphology	130557	ZNF513	ORPHA:791
HP:0005288	Abnormal nostril morphology	582	BBS1	ORPHA:791
HP:0005288	Abnormal nostril morphology	92211	CDHR1	ORPHA:791
HP:0005288	Abnormal nostril morphology	23568	ARL2BP	ORPHA:791
HP:0005288	Abnormal nostril morphology	6121	RPE65	ORPHA:791
HP:0005288	Abnormal nostril morphology	6101	RP1	ORPHA:791
HP:0005288	Abnormal nostril morphology	3419	IDH3A	ORPHA:791
HP:0005288	Abnormal nostril morphology	4751	NEK2	ORPHA:791
HP:0005288	Abnormal nostril morphology	346007	EYS	ORPHA:791
HP:0005288	Abnormal nostril morphology	8100	IFT88	ORPHA:791
HP:0005288	Abnormal nostril morphology	23020	SNRNP200	ORPHA:791
HP:0005288	Abnormal nostril morphology	762	CA4	ORPHA:791
HP:0005288	Abnormal nostril morphology	138050	HGSNAT	ORPHA:791
HP:0005288	Abnormal nostril morphology	196	AHR	ORPHA:791
HP:0005288	Abnormal nostril morphology	3614	IMPDH1	ORPHA:791
HP:0005288	Abnormal nostril morphology	123016	TTC8	ORPHA:791
HP:0005288	Abnormal nostril morphology	6103	RPGR	ORPHA:791
HP:0005288	Abnormal nostril morphology	1406	CRX	ORPHA:791
HP:0005288	Abnormal nostril morphology	5148	PDE6G	ORPHA:791
HP:0005288	Abnormal nostril morphology	26160	IFT172	ORPHA:791
HP:0005288	Abnormal nostril morphology	26121	PRPF31	ORPHA:791
HP:0005288	Abnormal nostril morphology	583	BBS2	ORPHA:791
HP:0005288	Abnormal nostril morphology	4117	MAK	ORPHA:791
HP:0005288	Abnormal nostril morphology	25794	FSCN2	ORPHA:791
HP:0005288	Abnormal nostril morphology	375298	CERKL	ORPHA:791
HP:0005288	Abnormal nostril morphology	3420	IDH3B	ORPHA:791
HP:0005288	Abnormal nostril morphology	57670	KIAA1549	ORPHA:791
HP:0005288	Abnormal nostril morphology	7275	TUB	ORPHA:791
HP:0005288	Abnormal nostril morphology	24148	PRPF6	ORPHA:791
HP:0005288	Abnormal nostril morphology	23418	CRB1	ORPHA:791
HP:0005288	Abnormal nostril morphology	10461	MERTK	ORPHA:791
HP:0005288	Abnormal nostril morphology	57709	SLC7A14	ORPHA:791
HP:0005288	Abnormal nostril morphology	768206	PRCD	ORPHA:791
HP:0005288	Abnormal nostril morphology	7399	USH2A	ORPHA:791
HP:0005288	Abnormal nostril morphology	23370	ARHGEF18	ORPHA:791
HP:0005288	Abnormal nostril morphology	5949	RBP3	ORPHA:791
HP:0005288	Abnormal nostril morphology	6010	RHO	ORPHA:791
HP:0005288	Abnormal nostril morphology	6100	RP9	ORPHA:791
HP:0005288	Abnormal nostril morphology	10002	NR2E3	ORPHA:791
HP:0005288	Abnormal nostril morphology	9227	LRAT	ORPHA:791
HP:0005288	Abnormal nostril morphology	84140	FAM161A	ORPHA:791
HP:0005288	Abnormal nostril morphology	55812	SPATA7	ORPHA:791
HP:0005288	Abnormal nostril morphology	55624	POMGNT1	ORPHA:791
HP:0005288	Abnormal nostril morphology	79797	ZNF408	ORPHA:791
HP:0005288	Abnormal nostril morphology	5145	PDE6A	ORPHA:791
HP:0005288	Abnormal nostril morphology	10210	TOPORS	ORPHA:791
HP:0005288	Abnormal nostril morphology	8842	PROM1	ORPHA:791
HP:0005288	Abnormal nostril morphology	9128	PRPF4	ORPHA:791
HP:0005288	Abnormal nostril morphology	145226	RDH12	ORPHA:791
HP:0005288	Abnormal nostril morphology	50939	IMPG2	ORPHA:791
HP:0005288	Abnormal nostril morphology	8481	OFD1	ORPHA:791
HP:0005288	Abnormal nostril morphology	49855	SCAPER	ORPHA:791
HP:0005288	Abnormal nostril morphology	9742	IFT140	ORPHA:791
HP:0005288	Abnormal nostril morphology	2979	GUCA1B	ORPHA:791
HP:0005288	Abnormal nostril morphology	1259	CNGA1	ORPHA:791
HP:0005288	Abnormal nostril morphology	1258	CNGB1	ORPHA:791
HP:0005288	Abnormal nostril morphology	60509	AGBL5	ORPHA:791
HP:0005288	Abnormal nostril morphology	5961	PRPH2	ORPHA:791
HP:0005288	Abnormal nostril morphology	388939	PCARE	ORPHA:791
HP:0005288	Abnormal nostril morphology	7439	BEST1	ORPHA:791
HP:0005288	Abnormal nostril morphology	9785	DHX38	ORPHA:791
HP:0005288	Abnormal nostril morphology	7287	TULP1	ORPHA:791
HP:0005288	Abnormal nostril morphology	5995	RGR	ORPHA:791
HP:0005288	Abnormal nostril morphology	9129	PRPF3	ORPHA:791
HP:0005288	Abnormal nostril morphology	55975	KLHL7	ORPHA:791
HP:0005288	Abnormal nostril morphology	3617	IMPG1	ORPHA:791
HP:0005288	Abnormal nostril morphology	94137	RP1L1	ORPHA:791
HP:0005288	Abnormal nostril morphology	5158	PDE6B	ORPHA:791
HP:0005288	Abnormal nostril morphology	6102	RP2	ORPHA:791
HP:0005288	Abnormal nostril morphology	55857	KIZ	ORPHA:791
HP:0005288	Abnormal nostril morphology	64218	SEMA4A	ORPHA:791
HP:0005288	Abnormal nostril morphology	4901	NRL	ORPHA:791
HP:0005288	Abnormal nostril morphology	157657	CFAP418	ORPHA:791
HP:0005288	Abnormal nostril morphology	10594	PRPF8	ORPHA:791
HP:0005288	Abnormal nostril morphology	84100	ARL6	ORPHA:791
HP:0005288	Abnormal nostril morphology	6295	SAG	ORPHA:791
HP:0005288	Abnormal nostril morphology	79947	DHDDS	ORPHA:791
HP:0005288	Abnormal nostril morphology	5898	RALA	OMIM:619311
HP:0005288	Abnormal nostril morphology	23013	SPEN	OMIM:619312
HP:0005288	Abnormal nostril morphology	54517	PUS7	OMIM:618342
HP:0005288	Abnormal nostril morphology	10785	WDR4	OMIM:618347
HP:0005288	Abnormal nostril morphology	79813	EHMT1	ORPHA:96147
HP:0005288	Abnormal nostril morphology	79813	EHMT1	OMIM:610253
HP:0005288	Abnormal nostril morphology	55315	SLC29A3	OMIM:602782
HP:0005288	Abnormal nostril morphology	55869	HDAC8	OMIM:300882
HP:0005288	Abnormal nostril morphology	55869	HDAC8	ORPHA:199
HP:0005288	Abnormal nostril morphology	2972	BRF1	ORPHA:444072
HP:0005288	Abnormal nostril morphology	29998	BICRA	OMIM:619325
HP:0005288	Abnormal nostril morphology	388015	RTL1	ORPHA:254528
HP:0005288	Abnormal nostril morphology	388015	RTL1	ORPHA:96184
HP:0005288	Abnormal nostril morphology	388015	RTL1	ORPHA:96334
HP:0005288	Abnormal nostril morphology	8788	DLK1	ORPHA:254528
HP:0005288	Abnormal nostril morphology	8788	DLK1	ORPHA:96184
HP:0005288	Abnormal nostril morphology	8788	DLK1	ORPHA:96334
HP:0005288	Abnormal nostril morphology	55384	MEG3	ORPHA:254528
HP:0005288	Abnormal nostril morphology	55384	MEG3	ORPHA:96184
HP:0005288	Abnormal nostril morphology	55384	MEG3	ORPHA:96334
HP:0005288	Abnormal nostril morphology	57520	HECW2	OMIM:617268
HP:0005288	Abnormal nostril morphology	23030	KDM4B	OMIM:619320
HP:0005288	Abnormal nostril morphology	6492	SIM1	ORPHA:171829
HP:0005288	Abnormal nostril morphology	23314	SATB2	ORPHA:251019
HP:0005288	Abnormal nostril morphology	23314	SATB2	OMIM:612313
HP:0005288	Abnormal nostril morphology	4081	MAB21L1	OMIM:618479
HP:0005288	Abnormal nostril morphology	9126	SMC3	OMIM:610759
HP:0005288	Abnormal nostril morphology	9126	SMC3	ORPHA:199
HP:0005288	Abnormal nostril morphology	79068	FTO	OMIM:612938
HP:0005288	Abnormal nostril morphology	473	RERE	ORPHA:494344
HP:0005288	Abnormal nostril morphology	473	RERE	OMIM:616975
HP:0005288	Abnormal nostril morphology	4784	NFIX	OMIM:602535
HP:0005288	Abnormal nostril morphology	4784	NFIX	ORPHA:561
HP:0005288	Abnormal nostril morphology	23221	RHOBTB2	OMIM:618004
HP:0005288	Abnormal nostril morphology	22930	RAB3GAP1	OMIM:600118
HP:0005288	Abnormal nostril morphology	22930	RAB3GAP1	ORPHA:2510
HP:0005288	Abnormal nostril morphology	6601	SMARCC2	OMIM:618362
HP:0005288	Abnormal nostril morphology	6601	SMARCC2	ORPHA:1465
HP:0005288	Abnormal nostril morphology	54496	PRMT7	OMIM:617157
HP:0005288	Abnormal nostril morphology	54496	PRMT7	ORPHA:464288
HP:0005288	Abnormal nostril morphology	92255	LMBRD2	OMIM:619694
HP:0005288	Abnormal nostril morphology	7965	AIMP2	OMIM:618006
HP:0005288	Abnormal nostril morphology	29920	PYCR2	ORPHA:481152
HP:0005288	Abnormal nostril morphology	29920	PYCR2	OMIM:616420
HP:0005288	Abnormal nostril morphology	1009	CDH11	OMIM:211380
HP:0005288	Abnormal nostril morphology	22827	PUF60	ORPHA:508488
HP:0005288	Abnormal nostril morphology	22827	PUF60	OMIM:615583
HP:0005288	Abnormal nostril morphology	2261	FGFR3	ORPHA:15
HP:0005288	Abnormal nostril morphology	80311	KLHL15	OMIM:300982
HP:0005288	Abnormal nostril morphology	6045	RNF2	OMIM:619460
HP:0005288	Abnormal nostril morphology	1781	DYNC1I2	OMIM:618492
HP:0005288	Abnormal nostril morphology	774	CACNA1B	OMIM:618497
HP:0005288	Abnormal nostril morphology	3977	LIFR	OMIM:601559
HP:0005288	Abnormal nostril morphology	5277	PIGA	OMIM:300868
HP:0005288	Abnormal nostril morphology	4613	MYCN	OMIM:164280
HP:0005288	Abnormal nostril morphology	23384	SPECC1L	OMIM:145420
HP:0005288	Abnormal nostril morphology	5573	PRKAR1A	OMIM:101800
HP:0005288	Abnormal nostril morphology	5573	PRKAR1A	ORPHA:950
HP:0005288	Abnormal nostril morphology	5573	PRKAR1A	ORPHA:280651
HP:0005288	Abnormal nostril morphology	9244	CRLF1	OMIM:272430
HP:0005288	Abnormal nostril morphology	9244	CRLF1	ORPHA:1545
HP:0005288	Abnormal nostril morphology	9343	EFTUD2	OMIM:610536
HP:0005288	Abnormal nostril morphology	6611	SMS	ORPHA:3063
HP:0005288	Abnormal nostril morphology	6611	SMS	OMIM:309583
HP:0005288	Abnormal nostril morphology	5281	PIGF	OMIM:619356
HP:0005288	Abnormal nostril morphology	5977	DPF2	OMIM:618027
HP:0005288	Abnormal nostril morphology	5977	DPF2	ORPHA:1465
HP:0005288	Abnormal nostril morphology	6711	SPTBN1	OMIM:619475
HP:0005288	Abnormal nostril morphology	80036	TRPM3	OMIM:620224
HP:0005288	Abnormal nostril morphology	4796	TONSL	OMIM:271510
HP:0005288	Abnormal nostril morphology	4796	TONSL	ORPHA:93357
HP:0005288	Abnormal nostril morphology	526	ATP6V1B2	ORPHA:79500
HP:0005288	Abnormal nostril morphology	57465	TBC1D24	ORPHA:79500
HP:0005288	Abnormal nostril morphology	57465	TBC1D24	OMIM:220500
HP:0005288	Abnormal nostril morphology	207	AKT1	ORPHA:744
HP:0005288	Abnormal nostril morphology	23405	DICER1	OMIM:618272
HP:0005288	Abnormal nostril morphology	136647	MPLKIP	OMIM:234050
HP:0005288	Abnormal nostril morphology	1457	CSNK2A1	OMIM:617062
HP:0005288	Abnormal nostril morphology	3636	INPPL1	OMIM:258480
HP:0005288	Abnormal nostril morphology	2077	ERF	OMIM:617180
HP:0005288	Abnormal nostril morphology	2571	GAD1	OMIM:619124
HP:0005288	Abnormal nostril morphology	285590	SH3PXD2B	OMIM:249420
HP:0005288	Abnormal nostril morphology	374879	ZNF699	OMIM:619488
HP:0005288	Abnormal nostril morphology	8567	MADD	OMIM:619005
HP:0005288	Abnormal nostril morphology	29123	ANKRD11	ORPHA:261250
HP:0005288	Abnormal nostril morphology	29123	ANKRD11	OMIM:148050
HP:0005288	Abnormal nostril morphology	29123	ANKRD11	ORPHA:2332
HP:0005288	Abnormal nostril morphology	10220	GDF11	OMIM:619122
HP:0005288	Abnormal nostril morphology	9508	ADAMTS3	OMIM:618154
HP:0005288	Abnormal nostril morphology	1654	DDX3X	OMIM:300958
HP:0005288	Abnormal nostril morphology	93587	TRMT10A	ORPHA:391408
HP:0005288	Abnormal nostril morphology	84919	PPP1R15B	ORPHA:391408
HP:0005288	Abnormal nostril morphology	2799	GNS	OMIM:252940
HP:0005288	Abnormal nostril morphology	9759	HDAC4	OMIM:600430
HP:0005288	Abnormal nostril morphology	9759	HDAC4	ORPHA:1001
HP:0005288	Abnormal nostril morphology	3090	HIC1	ORPHA:531
HP:0005288	Abnormal nostril morphology	5048	PAFAH1B1	ORPHA:531
HP:0005288	Abnormal nostril morphology	7531	YWHAE	ORPHA:531
HP:0005288	Abnormal nostril morphology	57020	VPS35L	OMIM:619135
HP:0005288	Abnormal nostril morphology	4781	NFIB	OMIM:618286
HP:0005288	Abnormal nostril morphology	3643	INSR	ORPHA:769
HP:0005288	Abnormal nostril morphology	84081	NSRP1	OMIM:620001
HP:0005288	Abnormal nostril morphology	7474	WNT5A	OMIM:180700
HP:0005288	Abnormal nostril morphology	7474	WNT5A	ORPHA:3107
HP:0005288	Abnormal nostril morphology	1795	DOCK3	OMIM:618292
HP:0005288	Abnormal nostril morphology	129285	PPP1R21	OMIM:619383
HP:0005288	Abnormal nostril morphology	84842	HPDL	OMIM:619026
HP:0005288	Abnormal nostril morphology	5144	PDE4D	ORPHA:950
HP:0005288	Abnormal nostril morphology	5144	PDE4D	OMIM:614613
HP:0005288	Abnormal nostril morphology	5144	PDE4D	ORPHA:280651
HP:0005288	Abnormal nostril morphology	8243	SMC1A	OMIM:300590
HP:0005288	Abnormal nostril morphology	8243	SMC1A	OMIM:301044
HP:0005288	Abnormal nostril morphology	8243	SMC1A	ORPHA:199
HP:0005288	Abnormal nostril morphology	10128	LRPPRC	OMIM:220111
HP:0005288	Abnormal nostril morphology	158	ADSL	OMIM:103050
HP:0005288	Abnormal nostril morphology	158	ADSL	ORPHA:46
HP:0005288	Abnormal nostril morphology	9131	AIFM1	OMIM:300232
HP:0005288	Abnormal nostril morphology	9131	AIFM1	ORPHA:83629
HP:0005288	Abnormal nostril morphology	6309	SC5D	ORPHA:46059
HP:0005288	Abnormal nostril morphology	6309	SC5D	OMIM:607330
HP:0005288	Abnormal nostril morphology	55503	TRPV6	OMIM:618188
HP:0005288	Abnormal nostril morphology	5885	RAD21	OMIM:614701
HP:0005288	Abnormal nostril morphology	5885	RAD21	ORPHA:199
HP:0005288	Abnormal nostril morphology	673	BRAF	OMIM:115150
HP:0005288	Abnormal nostril morphology	673	BRAF	ORPHA:1340
HP:0005288	Abnormal nostril morphology	145173	B3GLCT	ORPHA:709
HP:0005288	Abnormal nostril morphology	4774	NFIA	OMIM:613735
HP:0005288	Abnormal nostril morphology	2629	GBA1	OMIM:608013
HP:0005288	Abnormal nostril morphology	2629	GBA1	ORPHA:85212
HP:0005288	Abnormal nostril morphology	4281	MID1	OMIM:300000
HP:0005288	Abnormal nostril morphology	4281	MID1	ORPHA:2745
HP:0005288	Abnormal nostril morphology	80232	WDR26	ORPHA:513456
HP:0005288	Abnormal nostril morphology	80232	WDR26	OMIM:617616
HP:0005288	Abnormal nostril morphology	8443	GNPAT	OMIM:222765
HP:0005288	Abnormal nostril morphology	89910	UBE3B	OMIM:244450
HP:0005288	Abnormal nostril morphology	51506	UFC1	OMIM:618076
HP:0005288	Abnormal nostril morphology	9442	MED27	OMIM:619286
HP:0005288	Abnormal nostril morphology	2314	FLII	ORPHA:819
HP:0005288	Abnormal nostril morphology	23096	IQSEC2	ORPHA:819
HP:0005288	Abnormal nostril morphology	10743	RAI1	ORPHA:819
HP:0005288	Abnormal nostril morphology	10522	DEAF1	ORPHA:819
HP:0005288	Abnormal nostril morphology	1717	DHCR7	ORPHA:818
HP:0005288	Abnormal nostril morphology	1717	DHCR7	OMIM:270400
HP:0005288	Abnormal nostril morphology	10225	CD96	OMIM:211750
HP:0005288	Abnormal nostril morphology	10225	CD96	ORPHA:1308
HP:0005288	Abnormal nostril morphology	9382	COG1	OMIM:611209
HP:0005288	Abnormal nostril morphology	6197	RPS6KA3	OMIM:303600
HP:0005288	Abnormal nostril morphology	6197	RPS6KA3	ORPHA:192
HP:0005288	Abnormal nostril morphology	56992	KIF15	ORPHA:261323
HP:0005288	Abnormal nostril morphology	64324	NSD1	OMIM:117550
HP:0005288	Abnormal nostril morphology	9739	SETD1A	OMIM:619056
HP:0005288	Abnormal nostril morphology	5119	CHMP1A	OMIM:614961
HP:0005288	Abnormal nostril morphology	93627	TBCK	OMIM:616900
HP:0005288	Abnormal nostril morphology	8289	ARID1A	OMIM:614607
HP:0005288	Abnormal nostril morphology	8289	ARID1A	ORPHA:1465
HP:0005288	Abnormal nostril morphology	2200	FBN1	ORPHA:969
HP:0005288	Abnormal nostril morphology	2200	FBN1	ORPHA:2462
HP:0005288	Abnormal nostril morphology	2200	FBN1	OMIM:102370
HP:0005288	Abnormal nostril morphology	4054	LTBP3	ORPHA:969
HP:0005288	Abnormal nostril morphology	4054	LTBP3	OMIM:617809
HP:0005288	Abnormal nostril morphology	546	ATRX	ORPHA:847
HP:0005288	Abnormal nostril morphology	546	ATRX	OMIM:309580
HP:0005288	Abnormal nostril morphology	546	ATRX	OMIM:301040
HP:0005288	Abnormal nostril morphology	6598	SMARCB1	OMIM:614608
HP:0005288	Abnormal nostril morphology	6598	SMARCB1	ORPHA:1465
HP:0005288	Abnormal nostril morphology	6597	SMARCA4	OMIM:614609
HP:0005288	Abnormal nostril morphology	6597	SMARCA4	ORPHA:1465
HP:0005288	Abnormal nostril morphology	55697	VAC14	ORPHA:3472
HP:0005288	Abnormal nostril morphology	26053	AUTS2	ORPHA:352490
HP:0005288	Abnormal nostril morphology	26053	AUTS2	OMIM:615834
HP:0005288	Abnormal nostril morphology	23036	ZNF292	OMIM:619188
HP:0005288	Abnormal nostril morphology	6885	MAP3K7	OMIM:157800
HP:0005288	Abnormal nostril morphology	1954	MEGF8	OMIM:614976
HP:0005288	Abnormal nostril morphology	124512	METTL23	OMIM:615942
HP:0005288	Abnormal nostril morphology	2752	GLUL	OMIM:610015
HP:0005288	Abnormal nostril morphology	25942	SIN3A	OMIM:613406
HP:0005288	Abnormal nostril morphology	3425	IDUA	OMIM:607014
HP:0005288	Abnormal nostril morphology	3425	IDUA	ORPHA:93473
HP:0005288	Abnormal nostril morphology	3265	HRAS	OMIM:218040
HP:0005288	Abnormal nostril morphology	3265	HRAS	OMIM:137550
HP:0005288	Abnormal nostril morphology	7025	NR2F1	ORPHA:401777
HP:0005288	Abnormal nostril morphology	7025	NR2F1	OMIM:615722
HP:0005288	Abnormal nostril morphology	5063	PAK3	OMIM:300558
HP:0005288	Abnormal nostril morphology	56006	SMG9	OMIM:616920
HP:0005288	Abnormal nostril morphology	1857	DVL3	ORPHA:3107
HP:0005288	Abnormal nostril morphology	1857	DVL3	OMIM:616894
HP:0005288	Abnormal nostril morphology	2535	FZD2	ORPHA:3107
HP:0005288	Abnormal nostril morphology	285175	UNC80	OMIM:616801
HP:0005288	Abnormal nostril morphology	285175	UNC80	ORPHA:371364
HP:0005288	Abnormal nostril morphology	3211	HOXB1	OMIM:614744
HP:0005288	Abnormal nostril morphology	54499	TMCO1	OMIM:213980
HP:0005288	Abnormal nostril morphology	9719	ADAMTSL2	OMIM:231050
HP:0005288	Abnormal nostril morphology	11128	POLR3A	OMIM:264090
HP:0005288	Abnormal nostril morphology	11128	POLR3A	ORPHA:3455
HP:0005288	Abnormal nostril morphology	55165	CEP55	OMIM:236500
HP:0005288	Abnormal nostril morphology	1280	COL2A1	OMIM:108300
HP:0005288	Abnormal nostril morphology	84992	PIGY	OMIM:616809
HP:0005288	Abnormal nostril morphology	5594	MAPK1	OMIM:619087
HP:0005288	Abnormal nostril morphology	471	ATIC	OMIM:608688
HP:0005288	Abnormal nostril morphology	51085	MLXIPL	OMIM:194050
HP:0005288	Abnormal nostril morphology	2006	ELN	OMIM:194050
HP:0005288	Abnormal nostril morphology	55691	FRMD4A	OMIM:616819
HP:0005288	Abnormal nostril morphology	55691	FRMD4A	ORPHA:466688
HP:0005288	Abnormal nostril morphology	63895	PIEZO2	OMIM:248700
HP:0005288	Abnormal nostril morphology	55670	PEX26	ORPHA:44
HP:0005288	Abnormal nostril morphology	5824	PEX19	ORPHA:44
HP:0005288	Abnormal nostril morphology	5828	PEX2	ORPHA:44
HP:0005288	Abnormal nostril morphology	8504	PEX3	ORPHA:44
HP:0005288	Abnormal nostril morphology	9409	PEX16	ORPHA:44
HP:0005288	Abnormal nostril morphology	5190	PEX6	ORPHA:44
HP:0005288	Abnormal nostril morphology	8799	PEX11B	ORPHA:44
HP:0005288	Abnormal nostril morphology	5193	PEX12	ORPHA:44
HP:0005288	Abnormal nostril morphology	5194	PEX13	ORPHA:44
HP:0005288	Abnormal nostril morphology	5194	PEX13	OMIM:614883
HP:0005288	Abnormal nostril morphology	5195	PEX14	ORPHA:44
HP:0005288	Abnormal nostril morphology	5192	PEX10	ORPHA:44
HP:0005288	Abnormal nostril morphology	9652	SKIC3	OMIM:222470
HP:0005288	Abnormal nostril morphology	1836	SLC26A2	ORPHA:93298
HP:0005288	Abnormal nostril morphology	9321	TRIP11	ORPHA:93299
HP:0005288	Abnormal nostril morphology	9321	TRIP11	OMIM:200600
HP:0005288	Abnormal nostril morphology	79791	FBXO31	OMIM:615979
HP:0005288	Abnormal nostril morphology	85440	DOCK7	OMIM:615859
HP:0005288	Abnormal nostril morphology	85440	DOCK7	ORPHA:411986
HP:0005288	Abnormal nostril morphology	701	BUB1B	OMIM:257300
HP:0005288	Abnormal nostril morphology	117581	TWIST2	ORPHA:920
HP:0005288	Abnormal nostril morphology	117581	TWIST2	ORPHA:1231
HP:0005288	Abnormal nostril morphology	117581	TWIST2	OMIM:209885
HP:0005288	Abnormal nostril morphology	55023	PHIP	ORPHA:589905
HP:0005288	Abnormal nostril morphology	55023	PHIP	OMIM:617991
HP:0005288	Abnormal nostril morphology	2702	GJA5	OMIM:612474
HP:0005288	Abnormal nostril morphology	2703	GJA8	OMIM:612474
HP:0005288	Abnormal nostril morphology	867	CBL	OMIM:613563
HP:0005288	Abnormal nostril morphology	51025	PAM16	OMIM:613320
HP:0005288	Abnormal nostril morphology	51053	GMNN	OMIM:616835
HP:0005288	Abnormal nostril morphology	2245	FGD1	ORPHA:915
HP:0005288	Abnormal nostril morphology	2245	FGD1	OMIM:305400
HP:0005288	Abnormal nostril morphology	6497	SKI	ORPHA:2462
HP:0005288	Abnormal nostril morphology	6497	SKI	OMIM:182212
HP:0005288	Abnormal nostril morphology	6664	SOX11	OMIM:615866
HP:0005288	Abnormal nostril morphology	6664	SOX11	ORPHA:1465
HP:0005288	Abnormal nostril morphology	55906	ZC4H2	OMIM:301041
HP:0005288	Abnormal nostril morphology	55906	ZC4H2	OMIM:314580
HP:0005288	Abnormal nostril morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005288	Abnormal nostril morphology	100151683	RNU4ATAC	OMIM:616651
HP:0005288	Abnormal nostril morphology	23394	ADNP	OMIM:615873
HP:0005288	Abnormal nostril morphology	1788	DNMT3A	OMIM:615879
HP:0005288	Abnormal nostril morphology	23028	KDM1A	OMIM:616728
HP:0005288	Abnormal nostril morphology	23028	KDM1A	ORPHA:477993
HP:0005288	Abnormal nostril morphology	5160	PDHA1	OMIM:312170
HP:0005288	Abnormal nostril morphology	84162	BLTP1	OMIM:617822
HP:0005288	Abnormal nostril morphology	3097	HIVEP2	OMIM:616977
HP:0005288	Abnormal nostril morphology	5339	PLEC	OMIM:612138
HP:0005288	Abnormal nostril morphology	3767	KCNJ11	ORPHA:79134
HP:0005288	Abnormal nostril morphology	79731	NARS2	ORPHA:79134
HP:0005288	Abnormal nostril morphology	6833	ABCC8	ORPHA:79134
HP:0005288	Abnormal nostril morphology	5053	PAH	ORPHA:2209
HP:0005288	Abnormal nostril morphology	101929726	MYMX	ORPHA:1358
HP:0005288	Abnormal nostril morphology	101929726	MYMX	OMIM:619941
HP:0005288	Abnormal nostril morphology	10265	IRX5	OMIM:611174
HP:0005288	Abnormal nostril morphology	6602	SMARCD1	ORPHA:1465
HP:0005288	Abnormal nostril morphology	57492	ARID1B	ORPHA:1465
HP:0005288	Abnormal nostril morphology	196528	ARID2	ORPHA:1465
HP:0005288	Abnormal nostril morphology	6605	SMARCE1	ORPHA:1465
HP:0005288	Abnormal nostril morphology	134701	RIPPLY2	ORPHA:2311
HP:0005288	Abnormal nostril morphology	10683	DLL3	ORPHA:2311
HP:0005288	Abnormal nostril morphology	3955	LFNG	ORPHA:2311
HP:0005288	Abnormal nostril morphology	84667	HES7	ORPHA:2311
HP:0005288	Abnormal nostril morphology	145873	MESP2	ORPHA:2311
HP:0005288	Abnormal nostril morphology	91137	SLC25A46	OMIM:616505
HP:0005288	Abnormal nostril morphology	5604	MAP2K1	ORPHA:1340
HP:0005288	Abnormal nostril morphology	5605	MAP2K2	ORPHA:1340
HP:0005288	Abnormal nostril morphology	57211	ADGRG6	OMIM:616503
HP:0005288	Abnormal nostril morphology	2248	FGF3	ORPHA:2791
HP:0005288	Abnormal nostril morphology	2138	EYA1	ORPHA:2792
HP:0005288	Abnormal nostril morphology	5075	PAX1	ORPHA:2792
HP:0005288	Abnormal nostril morphology	79583	TMEM231	ORPHA:2318
HP:0005288	Abnormal nostril morphology	51524	TMEM138	ORPHA:2318
HP:0005288	Abnormal nostril morphology	23090	ZNF423	ORPHA:2318
HP:0005288	Abnormal nostril morphology	80184	CEP290	ORPHA:2318
HP:0005288	Abnormal nostril morphology	51259	TMEM216	ORPHA:2318
HP:0005288	Abnormal nostril morphology	57545	CC2D2A	ORPHA:2318
HP:0005288	Abnormal nostril morphology	57545	CC2D2A	ORPHA:1454
HP:0005288	Abnormal nostril morphology	10943	MSL3	OMIM:301032
HP:0005288	Abnormal nostril morphology	5745	PTH1R	ORPHA:50945
HP:0005288	Abnormal nostril morphology	8985	PLOD3	OMIM:612394
HP:0005288	Abnormal nostril morphology	128637	TBC1D20	OMIM:615663
HP:0005288	Abnormal nostril morphology	128637	TBC1D20	ORPHA:2510
HP:0005288	Abnormal nostril morphology	175	AGA	OMIM:208400
HP:0005288	Abnormal nostril morphology	55210	ATAD3A	OMIM:618810
HP:0005288	Abnormal nostril morphology	9419	CRIPT	OMIM:615789
HP:0005288	Abnormal nostril morphology	6638	SNRPN	ORPHA:177907
HP:0005288	Abnormal nostril morphology	2313	FLI1	ORPHA:2308
HP:0005288	Abnormal nostril morphology	60	ACTB	OMIM:243310
HP:0005288	Abnormal nostril morphology	23476	BRD4	ORPHA:199
HP:0005288	Abnormal nostril morphology	10664	CTCF	ORPHA:363611
HP:0005288	Abnormal nostril morphology	10367	MICU1	OMIM:615673
HP:0005288	Abnormal nostril morphology	7204	TRIO	OMIM:618825
HP:0005288	Abnormal nostril morphology	1861	TOR1A	OMIM:618947
HP:0005288	Abnormal nostril morphology	4329	ALDH6A1	OMIM:614105
HP:0005288	Abnormal nostril morphology	5293	PIK3CD	ORPHA:221139
HP:0005288	Abnormal nostril morphology	90417	KNSTRN	ORPHA:221139
HP:0005288	Abnormal nostril morphology	8405	SPOP	OMIM:618829
HP:0005288	Abnormal nostril morphology	6925	TCF4	ORPHA:2896
HP:0005288	Abnormal nostril morphology	23545	ATP6V0A2	OMIM:219200
HP:0005288	Abnormal nostril morphology	23545	ATP6V0A2	ORPHA:357074
HP:0005288	Abnormal nostril morphology	23630	KCNE5	ORPHA:86818
HP:0005288	Abnormal nostril morphology	2182	ACSL4	ORPHA:86818
HP:0005288	Abnormal nostril morphology	9949	AMMECR1	ORPHA:86818
HP:0005288	Abnormal nostril morphology	284252	KCTD1	OMIM:181270
HP:0005288	Abnormal nostril morphology	4893	NRAS	OMIM:137550
HP:0005288	Abnormal nostril morphology	51124	IER3IP1	OMIM:614231
HP:0005288	Abnormal nostril morphology	6911	TBX6	ORPHA:1797
HP:0005288	Abnormal nostril morphology	202018	TAPT1	OMIM:616897
HP:0005288	Abnormal nostril morphology	1806	DPYD	ORPHA:1675
HP:0005288	Abnormal nostril morphology	3832	KIF11	ORPHA:2526
HP:0005288	Abnormal nostril morphology	3832	KIF11	OMIM:152950
HP:0005288	Abnormal nostril morphology	100506658	OCLN	OMIM:251290
HP:0005288	Abnormal nostril morphology	3756	KCNH1	ORPHA:420561
HP:0005288	Abnormal nostril morphology	126792	B3GALT6	ORPHA:536467
HP:0005288	Abnormal nostril morphology	5331	PLCB3	OMIM:618961
HP:0005288	Abnormal nostril morphology	9320	TRIP12	OMIM:617752
HP:0005288	Abnormal nostril morphology	523	ATP6V1A	ORPHA:357074
HP:0005288	Abnormal nostril morphology	529	ATP6V1E1	ORPHA:357074
HP:0005288	Abnormal nostril morphology	529	ATP6V1E1	OMIM:617402
HP:0005288	Abnormal nostril morphology	5879	RAC1	OMIM:617751
HP:0005288	Abnormal nostril morphology	5879	RAC1	ORPHA:500159
HP:0005288	Abnormal nostril morphology	26503	SLC17A5	OMIM:269920
HP:0005288	Abnormal nostril morphology	650	BMP2	OMIM:617877
HP:0005288	Abnormal nostril morphology	738	VPS51	OMIM:618606
HP:0005288	Abnormal nostril morphology	5449	POU1F1	OMIM:613038
HP:0005288	Abnormal nostril morphology	85378	TUBGCP6	ORPHA:2518
HP:0005288	Abnormal nostril morphology	27229	TUBGCP4	ORPHA:2518
HP:0005288	Abnormal nostril morphology	10733	PLK4	ORPHA:2518
HP:0005288	Abnormal nostril morphology	9939	RBM8A	OMIM:274000
HP:0005288	Abnormal nostril morphology	4848	CNOT2	OMIM:618608
HP:0005288	Abnormal nostril morphology	25782	RAB3GAP2	ORPHA:2510
HP:0005288	Abnormal nostril morphology	22931	RAB18	ORPHA:2510
HP:0005288	Abnormal nostril morphology	64131	XYLT1	ORPHA:1425
HP:0005288	Abnormal nostril morphology	124583	CANT1	ORPHA:1425
HP:0005288	Abnormal nostril morphology	23529	CLCF1	ORPHA:1545
HP:0005288	Abnormal nostril morphology	4204	MECP2	OMIM:300260
HP:0005288	Abnormal nostril morphology	57647	DHX37	OMIM:618731
HP:0005288	Abnormal nostril morphology	23404	EXOSC2	OMIM:617763
HP:0005288	Abnormal nostril morphology	672	BRCA1	OMIM:617883
HP:0005288	Abnormal nostril morphology	5087	PBX1	OMIM:617641
HP:0005288	Abnormal nostril morphology	92935	MARS2	OMIM:616430
HP:0005288	Abnormal nostril morphology	10082	GPC6	ORPHA:93329
HP:0005288	Abnormal nostril morphology	4858	NOVA2	OMIM:618859
HP:0005288	Abnormal nostril morphology	58499	ZNF462	OMIM:618619
HP:0005288	Abnormal nostril morphology	23111	SPART	ORPHA:101000
HP:0005288	Abnormal nostril morphology	8091	HMGA2	ORPHA:94063
HP:0005288	Abnormal nostril morphology	23592	LEMD3	ORPHA:94063
HP:0005288	Abnormal nostril morphology	51322	WAC	ORPHA:466950
HP:0005288	Abnormal nostril morphology	197131	UBR1	ORPHA:2315
HP:0005288	Abnormal nostril morphology	4921	DDR2	OMIM:271665
HP:0005288	Abnormal nostril morphology	8260	NAA10	ORPHA:276432
HP:0005288	Abnormal nostril morphology	10735	STAG2	ORPHA:220386
HP:0005288	Abnormal nostril morphology	10735	STAG2	ORPHA:93925
HP:0005288	Abnormal nostril morphology	6491	STIL	ORPHA:220386
HP:0005288	Abnormal nostril morphology	6491	STIL	ORPHA:93926
HP:0005288	Abnormal nostril morphology	6491	STIL	ORPHA:93924
HP:0005288	Abnormal nostril morphology	6491	STIL	ORPHA:93925
HP:0005288	Abnormal nostril morphology	7473	WNT3	OMIM:273395
HP:0005288	Abnormal nostril morphology	157570	ESCO2	OMIM:268300
HP:0005288	Abnormal nostril morphology	5077	PAX3	OMIM:122880
HP:0005288	Abnormal nostril morphology	3763	KCNJ6	ORPHA:435628
HP:0005288	Abnormal nostril morphology	3763	KCNJ6	OMIM:614098
HP:0005288	Abnormal nostril morphology	23483	TGDS	OMIM:616145
HP:0005288	Abnormal nostril morphology	5396	PRRX1	ORPHA:990
HP:0005288	Abnormal nostril morphology	5015	OTX2	ORPHA:990
HP:0005288	Abnormal nostril morphology	23347	SMCHD1	ORPHA:2250
HP:0000426	Prominent nasal bridge	3476	IGBP1	OMIM:300472
HP:0000426	Prominent nasal bridge	3476	IGBP1	ORPHA:52055
HP:0000426	Prominent nasal bridge	10682	EBP	ORPHA:401973
HP:0000426	Prominent nasal bridge	10682	EBP	OMIM:300960
HP:0000426	Prominent nasal bridge	8243	SMC1A	OMIM:300590
HP:0000426	Prominent nasal bridge	25970	SH2B1	ORPHA:261222
HP:0000426	Prominent nasal bridge	10262	SF3B4	OMIM:154400
HP:0000426	Prominent nasal bridge	10262	SF3B4	ORPHA:1788
HP:0000426	Prominent nasal bridge	340533	NEXMIF	OMIM:300912
HP:0000426	Prominent nasal bridge	8294	H4C9	OMIM:619951
HP:0000426	Prominent nasal bridge	83932	SPRTN	OMIM:616200
HP:0000426	Prominent nasal bridge	26128	KIFBP	OMIM:609460
HP:0000426	Prominent nasal bridge	23135	KDM6B	OMIM:618505
HP:0000426	Prominent nasal bridge	10274	STAG1	ORPHA:502434
HP:0000426	Prominent nasal bridge	10274	STAG1	OMIM:617635
HP:0000426	Prominent nasal bridge	116931	MED12L	OMIM:618872
HP:0000426	Prominent nasal bridge	9578	CDC42BPB	OMIM:619841
HP:0000426	Prominent nasal bridge	613	BCR	ORPHA:261330
HP:0000426	Prominent nasal bridge	1399	CRKL	ORPHA:261330
HP:0000426	Prominent nasal bridge	5594	MAPK1	ORPHA:261330
HP:0000426	Prominent nasal bridge	80816	ASXL3	OMIM:615485
HP:0000426	Prominent nasal bridge	80816	ASXL3	ORPHA:352577
HP:0000426	Prominent nasal bridge	23322	RPGRIP1L	ORPHA:220497
HP:0000426	Prominent nasal bridge	23322	RPGRIP1L	ORPHA:1454
HP:0000426	Prominent nasal bridge	4867	NPHP1	ORPHA:220497
HP:0000426	Prominent nasal bridge	4867	NPHP1	ORPHA:110
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:220497
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:475
HP:0000426	Prominent nasal bridge	65062	TMEM237	OMIM:614424
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:2318
HP:0000426	Prominent nasal bridge	72	ACTG2	ORPHA:2604
HP:0000426	Prominent nasal bridge	54806	AHI1	ORPHA:220493
HP:0000426	Prominent nasal bridge	54806	AHI1	ORPHA:475
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:220493
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:475
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:1454
HP:0000426	Prominent nasal bridge	153241	CEP120	ORPHA:220493
HP:0000426	Prominent nasal bridge	153241	CEP120	ORPHA:475
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:220493
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:475
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:110
HP:0000426	Prominent nasal bridge	95681	CEP41	ORPHA:220493
HP:0000426	Prominent nasal bridge	95681	CEP41	ORPHA:475
HP:0000426	Prominent nasal bridge	23384	SPECC1L	ORPHA:1519
HP:0000426	Prominent nasal bridge	150468	CKAP2L	ORPHA:3255
HP:0000426	Prominent nasal bridge	84992	PIGY	ORPHA:247262
HP:0000426	Prominent nasal bridge	84720	PIGO	ORPHA:247262
HP:0000426	Prominent nasal bridge	93210	PGAP3	ORPHA:247262
HP:0000426	Prominent nasal bridge	284098	PIGW	ORPHA:247262
HP:0000426	Prominent nasal bridge	27315	PGAP2	ORPHA:247262
HP:0000426	Prominent nasal bridge	55650	PIGV	ORPHA:247262
HP:0000426	Prominent nasal bridge	9487	PIGL	ORPHA:247262
HP:0000426	Prominent nasal bridge	4001	LMNB1	OMIM:619179
HP:0000426	Prominent nasal bridge	170302	ARX	OMIM:300215
HP:0000426	Prominent nasal bridge	3190	HNRNPK	OMIM:616580
HP:0000426	Prominent nasal bridge	2590	GALNT2	OMIM:618885
HP:0000426	Prominent nasal bridge	284058	KANSL1	ORPHA:363958
HP:0000426	Prominent nasal bridge	284058	KANSL1	ORPHA:363965
HP:0000426	Prominent nasal bridge	284058	KANSL1	OMIM:610443
HP:0000426	Prominent nasal bridge	55870	ASH1L	OMIM:617796
HP:0000426	Prominent nasal bridge	23522	KAT6B	OMIM:606170
HP:0000426	Prominent nasal bridge	23522	KAT6B	ORPHA:85201
HP:0000426	Prominent nasal bridge	54880	BCOR	ORPHA:2712
HP:0000426	Prominent nasal bridge	54880	BCOR	OMIM:300166
HP:0000426	Prominent nasal bridge	1889	ECE1	OMIM:613870
HP:0000426	Prominent nasal bridge	7994	KAT6A	ORPHA:457193
HP:0000426	Prominent nasal bridge	7994	KAT6A	OMIM:616268
HP:0000426	Prominent nasal bridge	93627	TBCK	OMIM:616900
HP:0000426	Prominent nasal bridge	157680	VPS13B	OMIM:216550
HP:0000426	Prominent nasal bridge	157680	VPS13B	ORPHA:193
HP:0000426	Prominent nasal bridge	2626	GATA4	ORPHA:251071
HP:0000426	Prominent nasal bridge	222663	SCUBE3	OMIM:619184
HP:0000426	Prominent nasal bridge	9401	RECQL4	OMIM:218600
HP:0000426	Prominent nasal bridge	9401	RECQL4	ORPHA:1225
HP:0000426	Prominent nasal bridge	10484	SEC23A	OMIM:607812
HP:0000426	Prominent nasal bridge	10484	SEC23A	ORPHA:50814
HP:0000426	Prominent nasal bridge	1327	COX4I1	OMIM:619060
HP:0000426	Prominent nasal bridge	22884	WDR37	OMIM:618652
HP:0000426	Prominent nasal bridge	1193	CLIC2	ORPHA:324410
HP:0000426	Prominent nasal bridge	57178	ZMIZ1	OMIM:618659
HP:0000426	Prominent nasal bridge	23314	SATB2	OMIM:612313
HP:0000426	Prominent nasal bridge	23314	SATB2	ORPHA:251028
HP:0000426	Prominent nasal bridge	23314	SATB2	ORPHA:251019
HP:0000426	Prominent nasal bridge	200734	SPRED2	OMIM:619745
HP:0000426	Prominent nasal bridge	25942	SIN3A	OMIM:613406
HP:0000426	Prominent nasal bridge	25942	SIN3A	ORPHA:94065
HP:0000426	Prominent nasal bridge	4247	MGAT2	OMIM:212066
HP:0000426	Prominent nasal bridge	2200	FBN1	OMIM:616914
HP:0000426	Prominent nasal bridge	54345	SOX18	OMIM:137940
HP:0000426	Prominent nasal bridge	2074	ERCC6	OMIM:214150
HP:0000426	Prominent nasal bridge	2074	ERCC6	OMIM:133540
HP:0000426	Prominent nasal bridge	79600	TCTN1	ORPHA:475
HP:0000426	Prominent nasal bridge	79848	CSPP1	ORPHA:475
HP:0000426	Prominent nasal bridge	51684	SUFU	ORPHA:475
HP:0000426	Prominent nasal bridge	65250	CPLANE1	ORPHA:475
HP:0000426	Prominent nasal bridge	65250	CPLANE1	ORPHA:2754
HP:0000426	Prominent nasal bridge	91147	TMEM67	ORPHA:475
HP:0000426	Prominent nasal bridge	91147	TMEM67	ORPHA:1454
HP:0000426	Prominent nasal bridge	200894	ARL13B	ORPHA:475
HP:0000426	Prominent nasal bridge	9731	CEP104	ORPHA:475
HP:0000426	Prominent nasal bridge	219844	HYLS1	ORPHA:475
HP:0000426	Prominent nasal bridge	23247	KATNIP	ORPHA:475
HP:0000426	Prominent nasal bridge	219854	TMEM218	ORPHA:475
HP:0000426	Prominent nasal bridge	9786	KIAA0586	ORPHA:475
HP:0000426	Prominent nasal bridge	79867	TCTN2	ORPHA:475
HP:0000426	Prominent nasal bridge	80776	B9D2	ORPHA:475
HP:0000426	Prominent nasal bridge	10464	PIBF1	ORPHA:475
HP:0000426	Prominent nasal bridge	80210	ARMC9	ORPHA:475
HP:0000426	Prominent nasal bridge	23116	TOGARAM1	ORPHA:475
HP:0000426	Prominent nasal bridge	25776	CBY1	ORPHA:475
HP:0000426	Prominent nasal bridge	27077	B9D1	ORPHA:475
HP:0000426	Prominent nasal bridge	403	ARL3	ORPHA:475
HP:0000426	Prominent nasal bridge	92482	BBIP1	ORPHA:110
HP:0000426	Prominent nasal bridge	80184	CEP290	ORPHA:110
HP:0000426	Prominent nasal bridge	80184	CEP290	ORPHA:2318
HP:0000426	Prominent nasal bridge	11020	IFT27	ORPHA:110
HP:0000426	Prominent nasal bridge	582	BBS1	ORPHA:110
HP:0000426	Prominent nasal bridge	49855	SCAPER	ORPHA:110
HP:0000426	Prominent nasal bridge	51057	WDPCP	ORPHA:110
HP:0000426	Prominent nasal bridge	27241	BBS9	ORPHA:110
HP:0000426	Prominent nasal bridge	84984	CEP19	ORPHA:110
HP:0000426	Prominent nasal bridge	22954	TRIM32	ORPHA:110
HP:0000426	Prominent nasal bridge	79738	BBS10	ORPHA:110
HP:0000426	Prominent nasal bridge	123016	TTC8	ORPHA:110
HP:0000426	Prominent nasal bridge	26160	IFT172	ORPHA:110
HP:0000426	Prominent nasal bridge	583	BBS2	ORPHA:110
HP:0000426	Prominent nasal bridge	585	BBS4	ORPHA:110
HP:0000426	Prominent nasal bridge	8195	MKKS	ORPHA:110
HP:0000426	Prominent nasal bridge	54585	LZTFL1	ORPHA:110
HP:0000426	Prominent nasal bridge	55212	BBS7	ORPHA:110
HP:0000426	Prominent nasal bridge	166379	BBS12	ORPHA:110
HP:0000426	Prominent nasal bridge	10806	SDCCAG8	ORPHA:110
HP:0000426	Prominent nasal bridge	157657	CFAP418	ORPHA:110
HP:0000426	Prominent nasal bridge	84100	ARL6	ORPHA:110
HP:0000426	Prominent nasal bridge	129880	BBS5	ORPHA:110
HP:0000426	Prominent nasal bridge	80173	IFT74	ORPHA:110
HP:0000426	Prominent nasal bridge	7025	NR2F1	ORPHA:401777
HP:0000426	Prominent nasal bridge	7025	NR2F1	OMIM:615722
HP:0000426	Prominent nasal bridge	253738	EBF3	OMIM:617330
HP:0000426	Prominent nasal bridge	26038	CHD5	OMIM:619873
HP:0000426	Prominent nasal bridge	65109	UPF3B	OMIM:300676
HP:0000426	Prominent nasal bridge	65109	UPF3B	ORPHA:776
HP:0000426	Prominent nasal bridge	5063	PAK3	OMIM:300558
HP:0000426	Prominent nasal bridge	51633	OTUD6B	OMIM:617452
HP:0000426	Prominent nasal bridge	51633	OTUD6B	ORPHA:505237
HP:0000426	Prominent nasal bridge	116115	ZNF526	OMIM:619877
HP:0000426	Prominent nasal bridge	285175	UNC80	OMIM:616801
HP:0000426	Prominent nasal bridge	285175	UNC80	ORPHA:371364
HP:0000426	Prominent nasal bridge	5649	RELN	OMIM:257320
HP:0000426	Prominent nasal bridge	1859	DYRK1A	ORPHA:464311
HP:0000426	Prominent nasal bridge	1859	DYRK1A	ORPHA:268261
HP:0000426	Prominent nasal bridge	10907	TXNL4A	OMIM:608572
HP:0000426	Prominent nasal bridge	10907	TXNL4A	ORPHA:1200
HP:0000426	Prominent nasal bridge	78989	COLEC11	OMIM:265050
HP:0000426	Prominent nasal bridge	4089	SMAD4	OMIM:139210
HP:0000426	Prominent nasal bridge	5159	PDGFRB	OMIM:601812
HP:0000426	Prominent nasal bridge	56098	PCDHGC4	OMIM:619880
HP:0000426	Prominent nasal bridge	2263	FGFR2	OMIM:123790
HP:0000426	Prominent nasal bridge	2263	FGFR2	ORPHA:794
HP:0000426	Prominent nasal bridge	471	ATIC	OMIM:608688
HP:0000426	Prominent nasal bridge	5373	PMM2	ORPHA:79318
HP:0000426	Prominent nasal bridge	8242	KDM5C	OMIM:300534
HP:0000426	Prominent nasal bridge	8242	KDM5C	ORPHA:85279
HP:0000426	Prominent nasal bridge	23162	MAPK8IP3	OMIM:618443
HP:0000426	Prominent nasal bridge	6611	SMS	OMIM:309583
HP:0000426	Prominent nasal bridge	6611	SMS	ORPHA:3063
HP:0000426	Prominent nasal bridge	85440	DOCK7	OMIM:615859
HP:0000426	Prominent nasal bridge	85440	DOCK7	ORPHA:411986
HP:0000426	Prominent nasal bridge	79087	ALG12	ORPHA:79324
HP:0000426	Prominent nasal bridge	3339	HSPG2	ORPHA:800
HP:0000426	Prominent nasal bridge	80067	DCAF17	OMIM:241080
HP:0000426	Prominent nasal bridge	8295	TRRAP	OMIM:618454
HP:0000426	Prominent nasal bridge	29123	ANKRD11	OMIM:148050
HP:0000426	Prominent nasal bridge	29123	ANKRD11	ORPHA:2332
HP:0000426	Prominent nasal bridge	8621	CDK13	OMIM:617360
HP:0000426	Prominent nasal bridge	5587	PRKD1	OMIM:617364
HP:0000426	Prominent nasal bridge	2702	GJA5	OMIM:612474
HP:0000426	Prominent nasal bridge	2703	GJA8	OMIM:612474
HP:0000426	Prominent nasal bridge	4212	MEIS2	ORPHA:261190
HP:0000426	Prominent nasal bridge	6878	TAF6	OMIM:617126
HP:0000426	Prominent nasal bridge	55081	IFT57	OMIM:617927
HP:0000426	Prominent nasal bridge	7291	TWIST1	ORPHA:794
HP:0000426	Prominent nasal bridge	2261	FGFR3	ORPHA:794
HP:0000426	Prominent nasal bridge	8925	HERC1	OMIM:617011
HP:0000426	Prominent nasal bridge	8925	HERC1	ORPHA:457359
HP:0000426	Prominent nasal bridge	23013	SPEN	OMIM:619312
HP:0000426	Prominent nasal bridge	30000	TNPO2	OMIM:619556
HP:0000426	Prominent nasal bridge	10765	KDM5B	OMIM:618109
HP:0000426	Prominent nasal bridge	8573	CASK	OMIM:300749
HP:0000426	Prominent nasal bridge	50814	NSDHL	ORPHA:251383
HP:0000426	Prominent nasal bridge	50814	NSDHL	OMIM:300831
HP:0000426	Prominent nasal bridge	2334	AFF2	ORPHA:100973
HP:0000426	Prominent nasal bridge	2334	AFF2	OMIM:309548
HP:0000426	Prominent nasal bridge	55869	HDAC8	OMIM:300882
HP:0000426	Prominent nasal bridge	10847	SRCAP	OMIM:136140
HP:0000426	Prominent nasal bridge	23114	NFASC	OMIM:618356
HP:0000426	Prominent nasal bridge	29998	BICRA	OMIM:619325
HP:0000426	Prominent nasal bridge	9342	SNAP29	ORPHA:66631
HP:0000426	Prominent nasal bridge	3097	HIVEP2	OMIM:616977
HP:0000426	Prominent nasal bridge	54820	NDE1	OMIM:605013
HP:0000426	Prominent nasal bridge	51114	ZDHHC9	ORPHA:776
HP:0000426	Prominent nasal bridge	9968	MED12	ORPHA:776
HP:0000426	Prominent nasal bridge	9968	MED12	OMIM:309520
HP:0000426	Prominent nasal bridge	1908	EDN3	ORPHA:897
HP:0000426	Prominent nasal bridge	4286	MITF	ORPHA:897
HP:0000426	Prominent nasal bridge	1910	EDNRB	ORPHA:897
HP:0000426	Prominent nasal bridge	6663	SOX10	ORPHA:897
HP:0000426	Prominent nasal bridge	6663	SOX10	ORPHA:163746
HP:0000426	Prominent nasal bridge	2067	ERCC1	OMIM:610758
HP:0000426	Prominent nasal bridge	9126	SMC3	OMIM:610759
HP:0000426	Prominent nasal bridge	1725	DHPS	OMIM:618480
HP:0000426	Prominent nasal bridge	4810	NHS	OMIM:302350
HP:0000426	Prominent nasal bridge	4810	NHS	ORPHA:627
HP:0000426	Prominent nasal bridge	56915	EXOSC5	OMIM:619576
HP:0000426	Prominent nasal bridge	51132	RLIM	OMIM:300978
HP:0000426	Prominent nasal bridge	63925	ZNF335	OMIM:615095
HP:0000426	Prominent nasal bridge	5925	RB1	ORPHA:1587
HP:0000426	Prominent nasal bridge	9969	MED13	OMIM:618009
HP:0000426	Prominent nasal bridge	1063	CENPF	OMIM:243605
HP:0000426	Prominent nasal bridge	1312	COMT	ORPHA:567
HP:0000426	Prominent nasal bridge	221037	JMJD1C	ORPHA:567
HP:0000426	Prominent nasal bridge	2812	GP1BB	ORPHA:567
HP:0000426	Prominent nasal bridge	6239	RREB1	ORPHA:567
HP:0000426	Prominent nasal bridge	6899	TBX1	ORPHA:567
HP:0000426	Prominent nasal bridge	7290	HIRA	ORPHA:567
HP:0000426	Prominent nasal bridge	9632	SEC24C	ORPHA:567
HP:0000426	Prominent nasal bridge	7353	UFD1	ORPHA:567
HP:0000426	Prominent nasal bridge	421	ARVCF	ORPHA:567
HP:0000426	Prominent nasal bridge	79583	TMEM231	ORPHA:2318
HP:0000426	Prominent nasal bridge	51524	TMEM138	ORPHA:2318
HP:0000426	Prominent nasal bridge	23090	ZNF423	ORPHA:2318
HP:0000426	Prominent nasal bridge	51259	TMEM216	ORPHA:2318
HP:0000426	Prominent nasal bridge	51259	TMEM216	ORPHA:2754
HP:0000426	Prominent nasal bridge	57545	CC2D2A	ORPHA:2318
HP:0000426	Prominent nasal bridge	57545	CC2D2A	ORPHA:1454
HP:0000426	Prominent nasal bridge	5077	PAX3	OMIM:148820
HP:0000426	Prominent nasal bridge	91647	ATPAF2	OMIM:604273
HP:0000426	Prominent nasal bridge	444	ASPH	OMIM:601552
HP:0000426	Prominent nasal bridge	8091	HMGA2	ORPHA:94063
HP:0000426	Prominent nasal bridge	23592	LEMD3	ORPHA:94063
HP:0000426	Prominent nasal bridge	128637	TBC1D20	OMIM:615663
HP:0000426	Prominent nasal bridge	5116	PCNT	OMIM:210720
HP:0000426	Prominent nasal bridge	2239	GPC4	ORPHA:2662
HP:0000426	Prominent nasal bridge	23594	ORC6	OMIM:613803
HP:0000426	Prominent nasal bridge	10526	IPO8	OMIM:619472
HP:0000426	Prominent nasal bridge	7204	TRIO	OMIM:618825
HP:0000426	Prominent nasal bridge	25782	RAB3GAP2	OMIM:614225
HP:0000426	Prominent nasal bridge	25885	POLR1A	ORPHA:1200
HP:0000426	Prominent nasal bridge	259232	NALCN	ORPHA:371364
HP:0000426	Prominent nasal bridge	25914	RTTN	ORPHA:468631
HP:0000426	Prominent nasal bridge	8405	SPOP	OMIM:618828
HP:0000426	Prominent nasal bridge	8405	SPOP	OMIM:618829
HP:0000426	Prominent nasal bridge	6925	TCF4	ORPHA:2896
HP:0000426	Prominent nasal bridge	2132	EXT2	ORPHA:52022
HP:0000426	Prominent nasal bridge	60529	ALX4	ORPHA:52022
HP:0000426	Prominent nasal bridge	51317	PHF21A	ORPHA:52022
HP:0000426	Prominent nasal bridge	374879	ZNF699	OMIM:619488
HP:0000426	Prominent nasal bridge	57038	RARS2	OMIM:611523
HP:0000426	Prominent nasal bridge	8626	TP63	ORPHA:978
HP:0000426	Prominent nasal bridge	22995	CEP152	OMIM:613823
HP:0000426	Prominent nasal bridge	4841	NONO	ORPHA:466791
HP:0000426	Prominent nasal bridge	54888	NSUN2	OMIM:611091
HP:0000426	Prominent nasal bridge	7518	XRCC4	OMIM:616541
HP:0000426	Prominent nasal bridge	5879	RAC1	OMIM:617751
HP:0000426	Prominent nasal bridge	5879	RAC1	ORPHA:500159
HP:0000426	Prominent nasal bridge	3643	INSR	ORPHA:769
HP:0000426	Prominent nasal bridge	4683	NBN	ORPHA:647
HP:0000426	Prominent nasal bridge	10210	TOPORS	ORPHA:2754
HP:0000426	Prominent nasal bridge	9851	KIAA0753	ORPHA:2754
HP:0000426	Prominent nasal bridge	26123	TCTN3	ORPHA:2754
HP:0000426	Prominent nasal bridge	5147	PDE6D	ORPHA:2754
HP:0000426	Prominent nasal bridge	8481	OFD1	ORPHA:2754
HP:0000426	Prominent nasal bridge	317662	FAM149B1	ORPHA:2754
HP:0000426	Prominent nasal bridge	374654	KIF7	ORPHA:2754
HP:0000426	Prominent nasal bridge	11011	TLK2	OMIM:618050
HP:0000426	Prominent nasal bridge	4204	MECP2	OMIM:300260
HP:0000426	Prominent nasal bridge	375056	MIA3	OMIM:619269
HP:0000426	Prominent nasal bridge	672	BRCA1	OMIM:617883
HP:0000426	Prominent nasal bridge	7043	TGFB3	OMIM:615582
HP:0000426	Prominent nasal bridge	84148	KAT8	OMIM:618974
HP:0005285	Absent nasal bridge	27152	INTU	OMIM:617925
HP:0005285	Absent nasal bridge	176	ACAN	ORPHA:171866
HP:0005285	Absent nasal bridge	176	ACAN	OMIM:612813
HP:0003189	Long nose	54345	SOX18	OMIM:137940
HP:0003189	Long nose	2137	EXTL3	ORPHA:508533
HP:0003189	Long nose	340533	NEXMIF	OMIM:300912
HP:0003189	Long nose	56006	SMG9	OMIM:619995
HP:0003189	Long nose	94005	PIGS	OMIM:618143
HP:0003189	Long nose	4683	NBN	OMIM:251260
HP:0003189	Long nose	9401	RECQL4	ORPHA:221016
HP:0003189	Long nose	9968	MED12	OMIM:309520
HP:0003189	Long nose	80036	TRPM3	OMIM:620224
HP:0003189	Long nose	128869	PIGU	OMIM:618590
HP:0003189	Long nose	9241	NOG	OMIM:184460
HP:0003189	Long nose	79228	THOC6	ORPHA:363444
HP:0003189	Long nose	79228	THOC6	OMIM:613680
HP:0003189	Long nose	8905	AP1S2	ORPHA:85329
HP:0003189	Long nose	4983	OPHN1	OMIM:300486
HP:0003189	Long nose	10479	SLC9A6	OMIM:300243
HP:0003189	Long nose	7750	ZMYM2	OMIM:619522
HP:0003189	Long nose	63895	PIEZO2	OMIM:617146
HP:0003189	Long nose	182	JAG1	OMIM:118450
HP:0003189	Long nose	10472	ZBTB18	OMIM:612337
HP:0003189	Long nose	10847	SRCAP	ORPHA:2044
HP:0003189	Long nose	23431	AP4E1	OMIM:613744
HP:0003189	Long nose	118924	FRA10AC1	OMIM:620113
HP:0003189	Long nose	2556	GABRA3	OMIM:301091
HP:0003189	Long nose	7518	XRCC4	OMIM:616541
HP:0003189	Long nose	100151683	RNU4ATAC	ORPHA:2636
HP:0003189	Long nose	4853	NOTCH2	OMIM:610205
HP:0003189	Long nose	23522	KAT6B	ORPHA:3047
HP:0003189	Long nose	71	ACTG1	ORPHA:2995
HP:0003189	Long nose	60	ACTB	ORPHA:2995
HP:0003189	Long nose	222663	SCUBE3	OMIM:619184
HP:0003189	Long nose	25	ABL1	OMIM:617602
HP:0003189	Long nose	29072	SETD2	OMIM:616831
HP:0003189	Long nose	7291	TWIST1	OMIM:101400
HP:0003189	Long nose	7291	TWIST1	OMIM:180750
HP:0003189	Long nose	2263	FGFR2	OMIM:101400
HP:0003189	Long nose	23314	SATB2	OMIM:612313
HP:0003189	Long nose	5426	POLE	OMIM:618336
HP:0003189	Long nose	6664	SOX11	OMIM:615866
HP:0003189	Long nose	80816	ASXL3	ORPHA:352577
HP:0003189	Long nose	2697	GJA1	OMIM:257850
HP:0000456	Bifid nasal tip	2535	FZD2	OMIM:164745
HP:0000456	Bifid nasal tip	1947	EFNB1	OMIM:304110
HP:0000456	Bifid nasal tip	3190	HNRNPK	OMIM:616580
HP:0000456	Bifid nasal tip	60529	ALX4	OMIM:613451
HP:0000456	Bifid nasal tip	8260	NAA10	OMIM:300855
HP:0000456	Bifid nasal tip	55835	CENPJ	OMIM:608393
HP:0000456	Bifid nasal tip	54880	BCOR	ORPHA:2712
HP:0000456	Bifid nasal tip	54880	BCOR	OMIM:300166
HP:0000456	Bifid nasal tip	7994	KAT6A	OMIM:616268
HP:0000456	Bifid nasal tip	79005	SCNM1	OMIM:620107
HP:0000456	Bifid nasal tip	158326	FREM1	ORPHA:2717
HP:0000456	Bifid nasal tip	158326	FREM1	OMIM:248450
HP:0000456	Bifid nasal tip	8364	H4C3	OMIM:619758
HP:0000456	Bifid nasal tip	57688	ZSWIM6	ORPHA:1827
HP:0000456	Bifid nasal tip	57688	ZSWIM6	OMIM:603671
HP:0000456	Bifid nasal tip	1009	CDH11	OMIM:211380
HP:0000456	Bifid nasal tip	257	ALX3	OMIM:136760
HP:0000456	Bifid nasal tip	9758	FRMPD4	OMIM:300983
HP:0000456	Bifid nasal tip	3313	HSPA9	OMIM:616854
HP:0000456	Bifid nasal tip	526	ATP6V1B2	OMIM:616455
HP:0031160	Myelokathexis	3579	CXCR2	OMIM:619407
HP:0031160	Myelokathexis	7852	CXCR4	OMIM:193670
HP:0031160	Myelokathexis	7852	CXCR4	ORPHA:51636
HP:0031161	Reduced brain glutamate level by MRS	2581	GALC	ORPHA:206436
HP:0031161	Reduced brain glutamate level by MRS	5660	PSAP	ORPHA:206436
HP:0031162	Impaired oropharyngeal swallow response	283989	TSEN54	ORPHA:2524
HP:0031162	Impaired oropharyngeal swallow response	116461	TSEN15	ORPHA:2524
HP:0031162	Impaired oropharyngeal swallow response	79042	TSEN34	ORPHA:2524
HP:0031162	Impaired oropharyngeal swallow response	80746	TSEN2	ORPHA:2524
HP:0031162	Impaired oropharyngeal swallow response	51091	SEPSECS	ORPHA:2524
HP:0031162	Impaired oropharyngeal swallow response	9373	PLAA	ORPHA:521426
HP:0031162	Impaired oropharyngeal swallow response	5376	PMP22	ORPHA:98916
HP:0031162	Impaired oropharyngeal swallow response	55768	NGLY1	OMIM:615273
HP:0031162	Impaired oropharyngeal swallow response	55768	NGLY1	ORPHA:404454
HP:0031162	Impaired oropharyngeal swallow response	6872	TAF1	ORPHA:53351
HP:0031162	Impaired oropharyngeal swallow response	673	BRAF	OMIM:613706
HP:0031162	Impaired oropharyngeal swallow response	10755	GIPC1	ORPHA:98897
HP:0031162	Impaired oropharyngeal swallow response	100996717	NOTCH2NLC	ORPHA:98897
HP:0031164	Growth arrest lines	100	ADA	OMIM:102700
HP:0031165	Multifocal seizures	54936	ADPRS	OMIM:618170
HP:0031165	Multifocal seizures	6792	CDKL5	OMIM:300672
HP:0031165	Multifocal seizures	8243	SMC1A	OMIM:301044
HP:0031165	Multifocal seizures	7030	TFE3	OMIM:301066
HP:0031165	Multifocal seizures	64801	ARV1	OMIM:617020
HP:0031165	Multifocal seizures	2590	GALNT2	OMIM:618885
HP:0031165	Multifocal seizures	79587	CARS2	ORPHA:477774
HP:0031165	Multifocal seizures	5528	PPP2R5D	OMIM:616355
HP:0031165	Multifocal seizures	23732	FRRS1L	OMIM:616981
HP:0031165	Multifocal seizures	94005	PIGS	OMIM:618143
HP:0031165	Multifocal seizures	478	ATP1A3	OMIM:619606
HP:0031165	Multifocal seizures	10352	WARS2	OMIM:617710
HP:0031165	Multifocal seizures	10352	WARS2	ORPHA:572798
HP:0031165	Multifocal seizures	221927	BRAT1	OMIM:614498
HP:0031165	Multifocal seizures	93627	TBCK	ORPHA:488632
HP:0031165	Multifocal seizures	25977	NECAP1	OMIM:615833
HP:0031165	Multifocal seizures	9091	PIGQ	OMIM:618548
HP:0031165	Multifocal seizures	284111	SLC13A5	OMIM:615905
HP:0031165	Multifocal seizures	1759	DNM1	OMIM:620352
HP:0031165	Multifocal seizures	128989	TANGO2	ORPHA:480864
HP:0031166	Eyelid myokymia	8913	CACNA1G	ORPHA:458803
HP:0031166	Eyelid myokymia	8913	CACNA1G	OMIM:616795
HP:0100262	Synostosis involving digits	3549	IHH	OMIM:112500
HP:0100262	Synostosis involving digits	3549	IHH	ORPHA:93388
HP:0100262	Synostosis involving digits	658	BMPR1B	ORPHA:93388
HP:0100262	Synostosis involving digits	9791	PTDSS1	OMIM:151050
HP:0100262	Synostosis involving digits	9241	NOG	OMIM:611377
HP:0100262	Synostosis involving digits	9241	NOG	OMIM:186570
HP:0100262	Synostosis involving digits	9241	NOG	OMIM:185800
HP:0100262	Synostosis involving digits	22856	CHSY1	ORPHA:363417
HP:0100262	Synostosis involving digits	4920	ROR2	OMIM:268310
HP:0100262	Synostosis involving digits	727857	BHLHA9	OMIM:609432
HP:0100262	Synostosis involving digits	7021	TFAP2B	OMIM:169100
HP:0100262	Synostosis involving digits	10084	PQBP1	OMIM:309500
HP:0100262	Synostosis involving digits	4841	NONO	OMIM:300967
HP:0100262	Synostosis involving digits	9401	RECQL4	ORPHA:221016
HP:0100262	Synostosis involving digits	8200	GDF5	OMIM:610017
HP:0100262	Synostosis involving digits	64682	ANAPC1	ORPHA:221008
HP:0100262	Synostosis involving digits	5116	PCNT	OMIM:210720
HP:0100262	Synostosis involving digits	51776	MAP3K20	ORPHA:488232
HP:0031169	Postterm pregnancy	50506	DUOX2	ORPHA:226316
HP:0031169	Postterm pregnancy	6638	SNRPN	ORPHA:177904
HP:0031169	Postterm pregnancy	6638	SNRPN	ORPHA:177901
HP:0031169	Postterm pregnancy	6638	SNRPN	ORPHA:98754
HP:0031169	Postterm pregnancy	4692	NDN	ORPHA:177904
HP:0031169	Postterm pregnancy	4692	NDN	ORPHA:177901
HP:0031169	Postterm pregnancy	4692	NDN	ORPHA:98754
HP:0031169	Postterm pregnancy	54551	MAGEL2	ORPHA:177904
HP:0031169	Postterm pregnancy	54551	MAGEL2	ORPHA:177901
HP:0031169	Postterm pregnancy	54551	MAGEL2	ORPHA:98754
HP:0031169	Postterm pregnancy	4948	OCA2	ORPHA:177904
HP:0031169	Postterm pregnancy	4948	OCA2	ORPHA:177901
HP:0031169	Postterm pregnancy	4948	OCA2	ORPHA:98754
HP:0100263	Distal symphalangism	3549	IHH	OMIM:112500
HP:0100263	Distal symphalangism	3549	IHH	ORPHA:93388
HP:0100263	Distal symphalangism	9241	NOG	OMIM:611377
HP:0100263	Distal symphalangism	9241	NOG	OMIM:186570
HP:0100263	Distal symphalangism	9241	NOG	OMIM:185800
HP:0100263	Distal symphalangism	8200	GDF5	ORPHA:93388
HP:0100263	Distal symphalangism	658	BMPR1B	ORPHA:93388
HP:0100263	Distal symphalangism	7021	TFAP2B	OMIM:169100
HP:0100263	Distal symphalangism	5116	PCNT	OMIM:210720
HP:0100260	Mesoaxial polydactyly	7021	TFAP2B	ORPHA:46627
HP:0100260	Mesoaxial polydactyly	54585	LZTFL1	OMIM:615994
HP:0100260	Mesoaxial polydactyly	8195	MKKS	OMIM:236700
HP:0100260	Mesoaxial polydactyly	3239	HOXD13	OMIM:186000
HP:0100260	Mesoaxial polydactyly	51776	MAP3K20	OMIM:616890
HP:0100260	Mesoaxial polydactyly	317662	FAM149B1	OMIM:618763
HP:0100260	Mesoaxial polydactyly	65250	CPLANE1	OMIM:277170
HP:0100260	Mesoaxial polydactyly	2737	GLI3	ORPHA:672
HP:0100260	Mesoaxial polydactyly	22856	CHSY1	ORPHA:363417
HP:0100260	Mesoaxial polydactyly	7291	TWIST1	OMIM:101400
HP:0100260	Mesoaxial polydactyly	2263	FGFR2	OMIM:101400
HP:0100260	Mesoaxial polydactyly	2702	GJA5	OMIM:612474
HP:0100260	Mesoaxial polydactyly	2703	GJA8	OMIM:612474
HP:0100260	Mesoaxial polydactyly	10210	TOPORS	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	9851	KIAA0753	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	26123	TCTN3	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	5147	PDE6D	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	51259	TMEM216	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	8481	OFD1	ORPHA:2754
HP:0100260	Mesoaxial polydactyly	374654	KIF7	ORPHA:2754
HP:0100261	Abnormal tendon morphology	64093	SMOC1	OMIM:206920
HP:0100261	Abnormal tendon morphology	64093	SMOC1	ORPHA:1106
HP:0100261	Abnormal tendon morphology	91179	SCARF2	OMIM:600920
HP:0100261	Abnormal tendon morphology	7317	UBA1	ORPHA:1145
HP:0100261	Abnormal tendon morphology	3868	KRT16	ORPHA:2199
HP:0100261	Abnormal tendon morphology	3857	KRT9	ORPHA:2199
HP:0100261	Abnormal tendon morphology	3848	KRT1	ORPHA:2199
HP:0100261	Abnormal tendon morphology	3861	KRT14	ORPHA:69087
HP:0100261	Abnormal tendon morphology	388015	RTL1	ORPHA:96334
HP:0100261	Abnormal tendon morphology	8788	DLK1	ORPHA:96334
HP:0100261	Abnormal tendon morphology	55384	MEG3	ORPHA:96334
HP:0100261	Abnormal tendon morphology	4313	MMP2	OMIM:259600
HP:0100261	Abnormal tendon morphology	57863	CADM3	OMIM:619519
HP:0100261	Abnormal tendon morphology	64374	SIL1	OMIM:248800
HP:0100261	Abnormal tendon morphology	3763	KCNJ6	ORPHA:435628
HP:0100261	Abnormal tendon morphology	3763	KCNJ6	OMIM:614098
HP:0100261	Abnormal tendon morphology	9131	AIFM1	OMIM:300232
HP:0100261	Abnormal tendon morphology	2895	GRID2	OMIM:616204
HP:0100261	Abnormal tendon morphology	775	CACNA1C	OMIM:620029
HP:0100261	Abnormal tendon morphology	4047	LSS	ORPHA:2850
HP:0100261	Abnormal tendon morphology	197	AHSG	ORPHA:2850
HP:0100261	Abnormal tendon morphology	3694	ITGB6	ORPHA:2850
HP:0100261	Abnormal tendon morphology	5447	POR	ORPHA:95699
HP:0100261	Abnormal tendon morphology	5447	POR	OMIM:207410
HP:0100261	Abnormal tendon morphology	4072	EPCAM	ORPHA:144
HP:0100261	Abnormal tendon morphology	4292	MLH1	ORPHA:144
HP:0100261	Abnormal tendon morphology	5395	PMS2	ORPHA:144
HP:0100261	Abnormal tendon morphology	27030	MLH3	ORPHA:144
HP:0100261	Abnormal tendon morphology	22909	FAN1	ORPHA:144
HP:0100261	Abnormal tendon morphology	3845	KRAS	ORPHA:144
HP:0100261	Abnormal tendon morphology	5290	PIK3CA	ORPHA:144
HP:0100261	Abnormal tendon morphology	2956	MSH6	ORPHA:144
HP:0100261	Abnormal tendon morphology	5378	PMS1	ORPHA:144
HP:0100261	Abnormal tendon morphology	4436	MSH2	ORPHA:144
HP:0100261	Abnormal tendon morphology	6775	STAT4	ORPHA:85408
HP:0100261	Abnormal tendon morphology	3560	IL2RB	ORPHA:85408
HP:0100261	Abnormal tendon morphology	79722	ANKRD55	ORPHA:85408
HP:0100261	Abnormal tendon morphology	26191	PTPN22	ORPHA:85408
HP:0100261	Abnormal tendon morphology	919	CD247	ORPHA:85408
HP:0100261	Abnormal tendon morphology	3559	IL2RA	ORPHA:85408
HP:0100261	Abnormal tendon morphology	5771	PTPN2	ORPHA:85408
HP:0100261	Abnormal tendon morphology	8443	GNPAT	OMIM:222765
HP:0100261	Abnormal tendon morphology	3020	H3-3A	OMIM:619720
HP:0100261	Abnormal tendon morphology	64218	SEMA4A	ORPHA:440437
HP:0100261	Abnormal tendon morphology	657	BMPR1A	ORPHA:440437
HP:0100261	Abnormal tendon morphology	6224	RPS20	ORPHA:440437
HP:0100261	Abnormal tendon morphology	65082	VPS33A	OMIM:617303
HP:0100261	Abnormal tendon morphology	65082	VPS33A	ORPHA:505248
HP:0100261	Abnormal tendon morphology	84197	POMK	OMIM:615249
HP:0100261	Abnormal tendon morphology	128486	FITM2	OMIM:618635
HP:0100261	Abnormal tendon morphology	23431	AP4E1	OMIM:613744
HP:0100261	Abnormal tendon morphology	3908	LAMA2	ORPHA:258
HP:0100261	Abnormal tendon morphology	3908	LAMA2	OMIM:607855
HP:0100261	Abnormal tendon morphology	1798	DPAGT1	ORPHA:353327
HP:0100261	Abnormal tendon morphology	1798	DPAGT1	ORPHA:86309
HP:0100261	Abnormal tendon morphology	1798	DPAGT1	OMIM:608093
HP:0100261	Abnormal tendon morphology	85365	ALG2	ORPHA:353327
HP:0100261	Abnormal tendon morphology	6595	SMARCA2	OMIM:619293
HP:0100261	Abnormal tendon morphology	54332	GDAP1	OMIM:607706
HP:0100261	Abnormal tendon morphology	54332	GDAP1	ORPHA:101097
HP:0100261	Abnormal tendon morphology	23250	ATP11A	OMIM:619851
HP:0100261	Abnormal tendon morphology	7345	UCHL1	OMIM:615491
HP:0100261	Abnormal tendon morphology	274	BIN1	OMIM:255200
HP:0100261	Abnormal tendon morphology	50814	NSDHL	OMIM:308050
HP:0100261	Abnormal tendon morphology	55157	DARS2	ORPHA:137898
HP:0100261	Abnormal tendon morphology	55157	DARS2	OMIM:611105
HP:0100261	Abnormal tendon morphology	8560	DEGS1	OMIM:618404
HP:0100261	Abnormal tendon morphology	8398	PLA2G6	ORPHA:35069
HP:0100261	Abnormal tendon morphology	546	ATRX	ORPHA:847
HP:0100261	Abnormal tendon morphology	5191	PEX7	OMIM:215100
HP:0100261	Abnormal tendon morphology	56984	PSMG2	OMIM:619183
HP:0100261	Abnormal tendon morphology	9839	ZEB2	ORPHA:261552
HP:0100261	Abnormal tendon morphology	9839	ZEB2	ORPHA:261537
HP:0100261	Abnormal tendon morphology	22872	SEC31A	OMIM:618651
HP:0100261	Abnormal tendon morphology	84314	TMEM107	OMIM:617562
HP:0100261	Abnormal tendon morphology	10682	EBP	ORPHA:35173
HP:0100261	Abnormal tendon morphology	1641	DCX	ORPHA:2148
HP:0100261	Abnormal tendon morphology	28514	DLL1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	28514	DLL1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	28514	DLL1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	28514	DLL1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	2253	FGF8	ORPHA:93926
HP:0100261	Abnormal tendon morphology	2253	FGF8	ORPHA:93924
HP:0100261	Abnormal tendon morphology	2253	FGF8	ORPHA:93925
HP:0100261	Abnormal tendon morphology	2253	FGF8	ORPHA:220386
HP:0100261	Abnormal tendon morphology	6496	SIX3	ORPHA:93926
HP:0100261	Abnormal tendon morphology	6496	SIX3	ORPHA:93924
HP:0100261	Abnormal tendon morphology	6496	SIX3	ORPHA:93925
HP:0100261	Abnormal tendon morphology	6496	SIX3	ORPHA:220386
HP:0100261	Abnormal tendon morphology	7050	TGIF1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	7050	TGIF1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	7050	TGIF1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	7050	TGIF1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	4838	NODAL	ORPHA:93926
HP:0100261	Abnormal tendon morphology	4838	NODAL	ORPHA:93924
HP:0100261	Abnormal tendon morphology	4838	NODAL	ORPHA:93925
HP:0100261	Abnormal tendon morphology	4838	NODAL	ORPHA:220386
HP:0100261	Abnormal tendon morphology	7546	ZIC2	ORPHA:93926
HP:0100261	Abnormal tendon morphology	7546	ZIC2	ORPHA:93924
HP:0100261	Abnormal tendon morphology	7546	ZIC2	ORPHA:93925
HP:0100261	Abnormal tendon morphology	7546	ZIC2	ORPHA:220386
HP:0100261	Abnormal tendon morphology	6491	STIL	ORPHA:93926
HP:0100261	Abnormal tendon morphology	6491	STIL	ORPHA:93924
HP:0100261	Abnormal tendon morphology	6491	STIL	ORPHA:93925
HP:0100261	Abnormal tendon morphology	6491	STIL	ORPHA:220386
HP:0100261	Abnormal tendon morphology	2619	GAS1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	2619	GAS1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	2619	GAS1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	2619	GAS1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	84976	DISP1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	84976	DISP1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	84976	DISP1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	84976	DISP1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	2736	GLI2	ORPHA:93926
HP:0100261	Abnormal tendon morphology	2736	GLI2	ORPHA:93924
HP:0100261	Abnormal tendon morphology	2736	GLI2	ORPHA:93925
HP:0100261	Abnormal tendon morphology	2736	GLI2	ORPHA:220386
HP:0100261	Abnormal tendon morphology	8928	FOXH1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	8928	FOXH1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	8928	FOXH1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	8928	FOXH1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	5727	PTCH1	ORPHA:93926
HP:0100261	Abnormal tendon morphology	5727	PTCH1	ORPHA:93924
HP:0100261	Abnormal tendon morphology	5727	PTCH1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	5727	PTCH1	ORPHA:220386
HP:0100261	Abnormal tendon morphology	50937	CDON	ORPHA:93926
HP:0100261	Abnormal tendon morphology	50937	CDON	ORPHA:93924
HP:0100261	Abnormal tendon morphology	50937	CDON	ORPHA:93925
HP:0100261	Abnormal tendon morphology	50937	CDON	ORPHA:220386
HP:0100261	Abnormal tendon morphology	4632	MYL1	OMIM:618414
HP:0100261	Abnormal tendon morphology	2752	GLUL	OMIM:610015
HP:0100261	Abnormal tendon morphology	23007	PLCH1	ORPHA:93925
HP:0100261	Abnormal tendon morphology	10735	STAG2	ORPHA:93925
HP:0100261	Abnormal tendon morphology	10735	STAG2	ORPHA:220386
HP:0100261	Abnormal tendon morphology	3782	KCNN3	OMIM:618658
HP:0100261	Abnormal tendon morphology	11285	B4GALT7	OMIM:130070
HP:0100261	Abnormal tendon morphology	11285	B4GALT7	ORPHA:75496
HP:0100261	Abnormal tendon morphology	10717	AP4B1	OMIM:614066
HP:0100261	Abnormal tendon morphology	149371	EXOC8	OMIM:619076
HP:0100261	Abnormal tendon morphology	11154	AP4S1	OMIM:614067
HP:0100261	Abnormal tendon morphology	55699	IARS2	OMIM:616007
HP:0100261	Abnormal tendon morphology	9289	ADGRG1	ORPHA:98889
HP:0100261	Abnormal tendon morphology	27286	SRPX2	ORPHA:98889
HP:0100261	Abnormal tendon morphology	26137	ZBTB20	OMIM:259050
HP:0100261	Abnormal tendon morphology	26137	ZBTB20	ORPHA:3042
HP:0100261	Abnormal tendon morphology	64419	MTMR14	OMIM:160150
HP:0100261	Abnormal tendon morphology	57152	SLURP1	ORPHA:87503
HP:0100261	Abnormal tendon morphology	27086	FOXP1	ORPHA:391372
HP:0100261	Abnormal tendon morphology	773	CACNA1A	OMIM:617106
HP:0100261	Abnormal tendon morphology	6506	SLC1A2	OMIM:617105
HP:0100261	Abnormal tendon morphology	51085	MLXIPL	OMIM:194050
HP:0100261	Abnormal tendon morphology	2006	ELN	OMIM:194050
HP:0100261	Abnormal tendon morphology	487	ATP2A1	OMIM:601003
HP:0100261	Abnormal tendon morphology	427	ASAH1	ORPHA:2590
HP:0100261	Abnormal tendon morphology	427	ASAH1	ORPHA:333
HP:0100261	Abnormal tendon morphology	4677	NARS1	OMIM:619091
HP:0100261	Abnormal tendon morphology	22906	TRAK1	OMIM:618201
HP:0100261	Abnormal tendon morphology	81031	SLC2A10	OMIM:208050
HP:0100261	Abnormal tendon morphology	5692	PSMB4	OMIM:617591
HP:0100261	Abnormal tendon morphology	5698	PSMB9	OMIM:617591
HP:0100261	Abnormal tendon morphology	51227	PIGP	OMIM:617599
HP:0100261	Abnormal tendon morphology	55275	VPS53	OMIM:615851
HP:0100261	Abnormal tendon morphology	6567	SLC16A2	ORPHA:59
HP:0100261	Abnormal tendon morphology	6567	SLC16A2	OMIM:300523
HP:0100261	Abnormal tendon morphology	1387	CREBBP	OMIM:618332
HP:0100261	Abnormal tendon morphology	1387	CREBBP	OMIM:180849
HP:0100261	Abnormal tendon morphology	81570	CLPB	OMIM:616271
HP:0100261	Abnormal tendon morphology	667	DST	OMIM:614653
HP:0100261	Abnormal tendon morphology	3329	HSPD1	OMIM:612233
HP:0100261	Abnormal tendon morphology	1144	CHRND	OMIM:253290
HP:0100261	Abnormal tendon morphology	284119	CAVIN1	OMIM:613327
HP:0100261	Abnormal tendon morphology	55770	EXOC2	OMIM:619306
HP:0100261	Abnormal tendon morphology	8905	AP1S2	OMIM:304340
HP:0100261	Abnormal tendon morphology	9927	MFN2	ORPHA:99947
HP:0100261	Abnormal tendon morphology	9927	MFN2	OMIM:609260
HP:0100261	Abnormal tendon morphology	4001	LMNB1	ORPHA:99027
HP:0100261	Abnormal tendon morphology	389827	MYMK	OMIM:254940
HP:0100261	Abnormal tendon morphology	23592	LEMD3	OMIM:166700
HP:0100261	Abnormal tendon morphology	23592	LEMD3	ORPHA:1306
HP:0100261	Abnormal tendon morphology	10075	HUWE1	OMIM:309590
HP:0100261	Abnormal tendon morphology	9663	LPIN2	OMIM:609628
HP:0100261	Abnormal tendon morphology	9663	LPIN2	ORPHA:77297
HP:0100261	Abnormal tendon morphology	84706	GPT2	OMIM:616281
HP:0100261	Abnormal tendon morphology	23111	SPART	OMIM:275900
HP:0100261	Abnormal tendon morphology	112	ADCY6	OMIM:616287
HP:0100261	Abnormal tendon morphology	579	NKX3-2	OMIM:613330
HP:0100261	Abnormal tendon morphology	100151683	RNU4ATAC	OMIM:210710
HP:0100261	Abnormal tendon morphology	9526	MPDU1	OMIM:609180
HP:0100261	Abnormal tendon morphology	203547	VMA21	OMIM:310440
HP:0100261	Abnormal tendon morphology	4747	NEFL	OMIM:607684
HP:0100261	Abnormal tendon morphology	256297	PTF1A	OMIM:609069
HP:0100261	Abnormal tendon morphology	411	ARSB	OMIM:253200
HP:0100261	Abnormal tendon morphology	10049	DNAJB6	OMIM:603511
HP:0100261	Abnormal tendon morphology	79868	ALG13	OMIM:300884
HP:0100261	Abnormal tendon morphology	6651	SON	OMIM:617140
HP:0100261	Abnormal tendon morphology	8882	ZPR1	OMIM:619321
HP:0100261	Abnormal tendon morphology	10229	COQ7	OMIM:616733
HP:0100261	Abnormal tendon morphology	2263	FGFR2	OMIM:207410
HP:0100261	Abnormal tendon morphology	29078	NDUFAF4	OMIM:618237
HP:0100261	Abnormal tendon morphology	5831	PYCR1	OMIM:614438
HP:0100261	Abnormal tendon morphology	5010	CLDN11	OMIM:619328
HP:0100261	Abnormal tendon morphology	10651	MTX2	ORPHA:90153
HP:0100261	Abnormal tendon morphology	10651	MTX2	OMIM:619127
HP:0100261	Abnormal tendon morphology	4204	MECP2	OMIM:300055
HP:0100261	Abnormal tendon morphology	3039	HBA1	ORPHA:98791
HP:0100261	Abnormal tendon morphology	3040	HBA2	ORPHA:98791
HP:0100261	Abnormal tendon morphology	10940	POP1	OMIM:617396
HP:0100261	Abnormal tendon morphology	11253	MAN1B1	OMIM:614202
HP:0100261	Abnormal tendon morphology	6331	SCN5A	ORPHA:1344
HP:0100261	Abnormal tendon morphology	4878	NPPA	ORPHA:1344
HP:0100261	Abnormal tendon morphology	1280	COL2A1	OMIM:609162
HP:0100261	Abnormal tendon morphology	64856	VWA1	OMIM:619216
HP:0100261	Abnormal tendon morphology	7965	AIMP2	OMIM:618006
HP:0100261	Abnormal tendon morphology	29920	PYCR2	ORPHA:481152
HP:0100261	Abnormal tendon morphology	9361	LONP1	ORPHA:79243
HP:0100261	Abnormal tendon morphology	5160	PDHA1	ORPHA:79243
HP:0100261	Abnormal tendon morphology	91647	ATPAF2	OMIM:604273
HP:0100261	Abnormal tendon morphology	6329	SCN4A	ORPHA:682
HP:0100261	Abnormal tendon morphology	6390	SDHB	OMIM:619224
HP:0100261	Abnormal tendon morphology	11342	RNF13	OMIM:618379
HP:0100261	Abnormal tendon morphology	11342	RNF13	ORPHA:544503
HP:0100261	Abnormal tendon morphology	8802	SUCLG1	ORPHA:17
HP:0100261	Abnormal tendon morphology	79796	ALG9	OMIM:263210
HP:0100261	Abnormal tendon morphology	84896	ATAD1	OMIM:618011
HP:0100261	Abnormal tendon morphology	128637	TBC1D20	OMIM:615663
HP:0100261	Abnormal tendon morphology	8425	LTBP4	ORPHA:98896
HP:0100261	Abnormal tendon morphology	7874	USP7	ORPHA:500055
HP:0100261	Abnormal tendon morphology	9851	KIAA0753	OMIM:619479
HP:0100261	Abnormal tendon morphology	35	ACADS	OMIM:201470
HP:0100261	Abnormal tendon morphology	2033	EP300	OMIM:180849
HP:0100261	Abnormal tendon morphology	2517	FUCA1	OMIM:230000
HP:0100261	Abnormal tendon morphology	25782	RAB3GAP2	OMIM:614225
HP:0100261	Abnormal tendon morphology	22931	RAB18	OMIM:614222
HP:0100261	Abnormal tendon morphology	998	CDC42	ORPHA:487796
HP:0100261	Abnormal tendon morphology	4534	MTM1	OMIM:310400
HP:0100261	Abnormal tendon morphology	2571	GAD1	OMIM:619124
HP:0100261	Abnormal tendon morphology	162514	TRPV3	OMIM:614594
HP:0100261	Abnormal tendon morphology	202018	TAPT1	OMIM:616897
HP:0100261	Abnormal tendon morphology	342035	GLDN	OMIM:617194
HP:0100261	Abnormal tendon morphology	2176	FANCC	OMIM:227645
HP:0100261	Abnormal tendon morphology	5538	PPT1	OMIM:256730
HP:0100261	Abnormal tendon morphology	2990	GUSB	OMIM:253220
HP:0100261	Abnormal tendon morphology	8243	SMC1A	ORPHA:220386
HP:0100261	Abnormal tendon morphology	8815	BANF1	OMIM:614008
HP:0100261	Abnormal tendon morphology	84700	MYO18B	OMIM:616549
HP:0100261	Abnormal tendon morphology	5354	PLP1	OMIM:312920
HP:0100261	Abnormal tendon morphology	84081	NSRP1	OMIM:620001
HP:0100261	Abnormal tendon morphology	6389	SDHA	OMIM:252011
HP:0100261	Abnormal tendon morphology	2801	GOLGA2	OMIM:620240
HP:0100261	Abnormal tendon morphology	224	ALDH3A2	OMIM:270200
HP:0100261	Abnormal tendon morphology	129285	PPP1R21	OMIM:619383
HP:0100261	Abnormal tendon morphology	84842	HPDL	OMIM:619026
HP:0100261	Abnormal tendon morphology	221692	PHACTR1	OMIM:618298
HP:0100261	Abnormal tendon morphology	1140	CHRNB1	OMIM:616313
HP:0100261	Abnormal tendon morphology	6445	SGCG	ORPHA:353
HP:0100261	Abnormal tendon morphology	54888	NSUN2	OMIM:611091
HP:0100261	Abnormal tendon morphology	291	SLC25A4	OMIM:615418
HP:0100261	Abnormal tendon morphology	2010	EMD	OMIM:310300
HP:0100261	Abnormal tendon morphology	2010	EMD	ORPHA:98863
HP:0100261	Abnormal tendon morphology	4556	MT-TE	ORPHA:2596
HP:0100261	Abnormal tendon morphology	9990	SLC12A6	OMIM:620068
HP:0100261	Abnormal tendon morphology	10060	ABCC9	OMIM:619719
HP:0100261	Abnormal tendon morphology	3714	JAG2	OMIM:619566
HP:0100261	Abnormal tendon morphology	51506	UFC1	OMIM:618076
HP:0100261	Abnormal tendon morphology	2705	GJB1	OMIM:302800
HP:0100261	Abnormal tendon morphology	26090	ABHD12	OMIM:612674
HP:0100261	Abnormal tendon morphology	729920	CRPPA	ORPHA:370980
HP:0100261	Abnormal tendon morphology	2799	GNS	OMIM:252940
HP:0100261	Abnormal tendon morphology	79188	TMEM43	ORPHA:98853
HP:0100261	Abnormal tendon morphology	23224	SYNE2	ORPHA:98853
HP:0100261	Abnormal tendon morphology	1832	DSP	ORPHA:158687
HP:0100261	Abnormal tendon morphology	3728	JUP	ORPHA:158687
HP:0100261	Abnormal tendon morphology	2737	GLI3	OMIM:175700
HP:0100261	Abnormal tendon morphology	84295	PHF6	ORPHA:127
HP:0100261	Abnormal tendon morphology	777	CACNA1E	OMIM:618285
HP:0100261	Abnormal tendon morphology	56203	LMOD3	OMIM:616165
HP:0100261	Abnormal tendon morphology	100128927	ZBTB42	OMIM:616248
HP:0100261	Abnormal tendon morphology	283989	TSEN54	OMIM:277470
HP:0100261	Abnormal tendon morphology	283989	TSEN54	OMIM:225753
HP:0100261	Abnormal tendon morphology	246329	STAC3	ORPHA:168572
HP:0100261	Abnormal tendon morphology	4620	MYH2	OMIM:605637
HP:0100261	Abnormal tendon morphology	9496	TBX4	ORPHA:261279
HP:0100261	Abnormal tendon morphology	1785	DNM2	OMIM:615368
HP:0100261	Abnormal tendon morphology	5081	PAX7	OMIM:618578
HP:0100261	Abnormal tendon morphology	7443	VRK1	OMIM:607596
HP:0100261	Abnormal tendon morphology	26153	KIF26A	OMIM:620156
HP:0100261	Abnormal tendon morphology	1718	DHCR24	OMIM:602398
HP:0100261	Abnormal tendon morphology	2673	GFPT1	OMIM:608931
HP:0100261	Abnormal tendon morphology	1145	CHRNE	OMIM:608931
HP:0100261	Abnormal tendon morphology	5339	PLEC	OMIM:226730
HP:0100261	Abnormal tendon morphology	91754	NEK9	OMIM:614262
HP:0100261	Abnormal tendon morphology	2632	GBE1	OMIM:232500
HP:0100261	Abnormal tendon morphology	55627	SMPD4	OMIM:618622
HP:0100261	Abnormal tendon morphology	1134	CHRNA1	OMIM:608930
HP:0100261	Abnormal tendon morphology	2629	GBA1	OMIM:608013
HP:0100261	Abnormal tendon morphology	2629	GBA1	ORPHA:85212
HP:0100261	Abnormal tendon morphology	55593	OTUD5	OMIM:301056
HP:0100261	Abnormal tendon morphology	10324	KLHL41	ORPHA:171436
HP:0100261	Abnormal tendon morphology	10324	KLHL41	ORPHA:171433
HP:0100261	Abnormal tendon morphology	10324	KLHL41	ORPHA:171430
HP:0100261	Abnormal tendon morphology	10324	KLHL41	OMIM:615731
HP:0100261	Abnormal tendon morphology	10324	KLHL41	ORPHA:171439
HP:0100261	Abnormal tendon morphology	1073	CFL2	ORPHA:171436
HP:0100261	Abnormal tendon morphology	60482	SLC5A7	OMIM:617143
HP:0100261	Abnormal tendon morphology	60482	SLC5A7	ORPHA:98914
HP:0100261	Abnormal tendon morphology	6536	SLC6A9	OMIM:617301
HP:0100261	Abnormal tendon morphology	131377	KLHL40	ORPHA:171430
HP:0100261	Abnormal tendon morphology	84162	BLTP1	OMIM:617822
HP:0100261	Abnormal tendon morphology	23729	SHPK	ORPHA:440713
HP:0100261	Abnormal tendon morphology	79158	GNPTAB	OMIM:252500
HP:0100261	Abnormal tendon morphology	2733	GLE1	OMIM:253310
HP:0100261	Abnormal tendon morphology	2733	GLE1	OMIM:611890
HP:0100261	Abnormal tendon morphology	56975	FAM20C	OMIM:259775
HP:0100261	Abnormal tendon morphology	6904	TBCD	ORPHA:496641
HP:0100261	Abnormal tendon morphology	6904	TBCD	OMIM:617193
HP:0100261	Abnormal tendon morphology	5980	REV3L	ORPHA:570
HP:0100261	Abnormal tendon morphology	23129	PLXND1	ORPHA:570
HP:0100261	Abnormal tendon morphology	63925	ZNF335	OMIM:615095
HP:0100261	Abnormal tendon morphology	1020	CDK5	OMIM:616342
HP:0100261	Abnormal tendon morphology	23345	SYNE1	OMIM:618484
HP:0100261	Abnormal tendon morphology	23345	SYNE1	ORPHA:319332
HP:0100261	Abnormal tendon morphology	113189	CHST14	ORPHA:2953
HP:0100261	Abnormal tendon morphology	113189	CHST14	OMIM:601776
HP:0100261	Abnormal tendon morphology	29940	DSE	ORPHA:2953
HP:0100261	Abnormal tendon morphology	5119	CHMP1A	OMIM:614961
HP:0100261	Abnormal tendon morphology	91869	RFT1	ORPHA:244310
HP:0100261	Abnormal tendon morphology	9326	ZNHIT3	ORPHA:2836
HP:0100261	Abnormal tendon morphology	547	KIF1A	ORPHA:2836
HP:0100261	Abnormal tendon morphology	6663	SOX10	ORPHA:163746
HP:0100261	Abnormal tendon morphology	6663	SOX10	OMIM:609136
HP:0100261	Abnormal tendon morphology	51008	ASCC1	OMIM:616867
HP:0100261	Abnormal tendon morphology	26276	VPS33B	OMIM:208085
HP:0100261	Abnormal tendon morphology	57498	KIDINS220	OMIM:619501
HP:0100261	Abnormal tendon morphology	2783	GNB2	OMIM:619503
HP:0100261	Abnormal tendon morphology	63894	VIPAS39	OMIM:613404
HP:0100261	Abnormal tendon morphology	2065	ERBB3	OMIM:243180
HP:0100261	Abnormal tendon morphology	2065	ERBB3	OMIM:607598
HP:0100261	Abnormal tendon morphology	54551	MAGEL2	OMIM:615547
HP:0100261	Abnormal tendon morphology	23265	EXOC7	OMIM:619072
HP:0100261	Abnormal tendon morphology	1182	CLCN3	OMIM:619512
HP:0100261	Abnormal tendon morphology	5530	PPP3CA	OMIM:618265
HP:0100261	Abnormal tendon morphology	1103	CHAT	OMIM:254210
HP:0100261	Abnormal tendon morphology	1103	CHAT	ORPHA:98914
HP:0100261	Abnormal tendon morphology	23287	AGTPBP1	ORPHA:2254
HP:0100261	Abnormal tendon morphology	51010	EXOSC3	ORPHA:2254
HP:0100261	Abnormal tendon morphology	91137	SLC25A46	ORPHA:2254
HP:0100261	Abnormal tendon morphology	5352	PLOD2	ORPHA:2771
HP:0100261	Abnormal tendon morphology	55165	CEP55	OMIM:236500
HP:0100261	Abnormal tendon morphology	3800	KIF5C	OMIM:615282
HP:0100261	Abnormal tendon morphology	9928	KIF14	OMIM:616258
HP:0100261	Abnormal tendon morphology	4649	MYO9A	ORPHA:98914
HP:0100261	Abnormal tendon morphology	1305	COL13A1	ORPHA:98914
HP:0100261	Abnormal tendon morphology	6576	SLC25A1	ORPHA:98914
HP:0100261	Abnormal tendon morphology	6843	VAMP1	ORPHA:98914
HP:0100261	Abnormal tendon morphology	375790	AGRN	ORPHA:98914
HP:0100261	Abnormal tendon morphology	6616	SNAP25	ORPHA:98914
HP:0100261	Abnormal tendon morphology	3911	LAMA5	OMIM:620076
HP:0100261	Abnormal tendon morphology	4626	MYH8	OMIM:158300
HP:0100261	Abnormal tendon morphology	9319	TRIP13	OMIM:617598
HP:0100261	Abnormal tendon morphology	10479	SLC9A6	ORPHA:85278
HP:0100261	Abnormal tendon morphology	200205	IBA57	OMIM:615330
HP:0100261	Abnormal tendon morphology	84665	MYPN	ORPHA:171439
HP:0100261	Abnormal tendon morphology	390594	KBTBD13	ORPHA:171439
HP:0100261	Abnormal tendon morphology	10195	ALG3	ORPHA:79321
HP:0100261	Abnormal tendon morphology	10195	ALG3	OMIM:601110
HP:0100261	Abnormal tendon morphology	91574	MTRFR	ORPHA:320375
HP:0100261	Abnormal tendon morphology	54101	RIPK4	OMIM:263650
HP:0100261	Abnormal tendon morphology	8216	LZTR1	OMIM:605275
HP:0100261	Abnormal tendon morphology	4625	MYH7	ORPHA:324604
HP:0100261	Abnormal tendon morphology	6261	RYR1	ORPHA:597
HP:0100261	Abnormal tendon morphology	6261	RYR1	ORPHA:424107
HP:0100261	Abnormal tendon morphology	23769	FLRT1	ORPHA:320406
HP:0100261	Abnormal tendon morphology	64837	KLC2	ORPHA:320406
HP:0100261	Abnormal tendon morphology	5393	EXOSC9	OMIM:618065
HP:0100261	Abnormal tendon morphology	94005	PIGS	OMIM:618143
HP:0100261	Abnormal tendon morphology	55823	VPS11	ORPHA:466934
HP:0100261	Abnormal tendon morphology	7051	TGM1	ORPHA:100976
HP:0100261	Abnormal tendon morphology	1763	DNA2	ORPHA:352470
HP:0100261	Abnormal tendon morphology	23396	PIP5K1C	OMIM:611369
HP:0100261	Abnormal tendon morphology	9499	MYOT	ORPHA:98911
HP:0100261	Abnormal tendon morphology	54820	NDE1	OMIM:605013
HP:0100261	Abnormal tendon morphology	3417	IDH1	ORPHA:99646
HP:0100261	Abnormal tendon morphology	79147	FKRP	ORPHA:370968
HP:0100261	Abnormal tendon morphology	29954	POMT2	ORPHA:370968
HP:0100261	Abnormal tendon morphology	9215	LARGE1	ORPHA:370968
HP:0100261	Abnormal tendon morphology	10585	POMT1	ORPHA:370968
HP:0100261	Abnormal tendon morphology	5373	PMM2	ORPHA:79318
HP:0100261	Abnormal tendon morphology	5981	RFC1	ORPHA:504476
HP:0100261	Abnormal tendon morphology	339855	KY	OMIM:617114
HP:0100261	Abnormal tendon morphology	199857	ALG14	OMIM:616227
HP:0100261	Abnormal tendon morphology	404672	GTF2H5	ORPHA:33364
HP:0100261	Abnormal tendon morphology	833	CARS1	ORPHA:33364
HP:0100261	Abnormal tendon morphology	7737	RNF113A	ORPHA:33364
HP:0100261	Abnormal tendon morphology	136647	MPLKIP	ORPHA:33364
HP:0100261	Abnormal tendon morphology	6897	TARS1	ORPHA:33364
HP:0100261	Abnormal tendon morphology	2071	ERCC3	ORPHA:33364
HP:0100261	Abnormal tendon morphology	2961	GTF2E2	ORPHA:33364
HP:0100261	Abnormal tendon morphology	6509	SLC1A4	ORPHA:447997
HP:0100261	Abnormal tendon morphology	23299	BICD2	OMIM:618291
HP:0100261	Abnormal tendon morphology	10535	RNASEH2A	ORPHA:51
HP:0100261	Abnormal tendon morphology	84153	RNASEH2C	ORPHA:51
HP:0100261	Abnormal tendon morphology	25939	SAMHD1	ORPHA:51
HP:0100261	Abnormal tendon morphology	79621	RNASEH2B	ORPHA:51
HP:0100261	Abnormal tendon morphology	103	ADAR	ORPHA:51
HP:0100261	Abnormal tendon morphology	11277	TREX1	ORPHA:51
HP:0100261	Abnormal tendon morphology	100147744	RNU7-1	ORPHA:51
HP:0100261	Abnormal tendon morphology	134353	LSM11	ORPHA:51
HP:0100261	Abnormal tendon morphology	64135	IFIH1	ORPHA:51
HP:0100261	Abnormal tendon morphology	1861	TOR1A	OMIM:128100
HP:0100261	Abnormal tendon morphology	2137	EXTL3	ORPHA:508533
HP:0100261	Abnormal tendon morphology	83932	SPRTN	OMIM:616200
HP:0100261	Abnormal tendon morphology	5351	PLOD1	ORPHA:1900
HP:0100261	Abnormal tendon morphology	7020	TFAP2A	OMIM:113620
HP:0100261	Abnormal tendon morphology	545	ATR	OMIM:210600
HP:0100261	Abnormal tendon morphology	84065	TMEM222	OMIM:619470
HP:0100261	Abnormal tendon morphology	3835	KIF22	ORPHA:93360
HP:0100261	Abnormal tendon morphology	6628	SNRPB	OMIM:117650
HP:0100261	Abnormal tendon morphology	340419	RSPO2	OMIM:618022
HP:0100261	Abnormal tendon morphology	23233	EXOC6B	ORPHA:93359
HP:0100261	Abnormal tendon morphology	5286	PIK3C2A	OMIM:618440
HP:0100261	Abnormal tendon morphology	25836	NIPBL	OMIM:122470
HP:0100261	Abnormal tendon morphology	7476	WNT7A	OMIM:276820
HP:0100261	Abnormal tendon morphology	5832	ALDH18A1	ORPHA:447757
HP:0100261	Abnormal tendon morphology	26229	B3GAT3	OMIM:245600
HP:0100261	Abnormal tendon morphology	825	CAPN3	ORPHA:267
HP:0100261	Abnormal tendon morphology	2273	FHL1	OMIM:300696
HP:0100261	Abnormal tendon morphology	57190	SELENON	ORPHA:97244
HP:0100261	Abnormal tendon morphology	58	ACTA1	ORPHA:97244
HP:0100261	Abnormal tendon morphology	1756	DMD	OMIM:310200
HP:0100261	Abnormal tendon morphology	4976	OPA1	OMIM:210000
HP:0100261	Abnormal tendon morphology	215	ABCD1	ORPHA:139396
HP:0100261	Abnormal tendon morphology	203859	ANO5	ORPHA:206549
HP:0100261	Abnormal tendon morphology	11160	ERLIN2	ORPHA:280384
HP:0100261	Abnormal tendon morphology	29968	PSAT1	ORPHA:284417
HP:0100261	Abnormal tendon morphology	51102	MECR	OMIM:617282
HP:0100261	Abnormal tendon morphology	3074	HEXB	ORPHA:309162
HP:0100261	Abnormal tendon morphology	51633	OTUD6B	ORPHA:505237
HP:0100261	Abnormal tendon morphology	170302	ARX	OMIM:300004
HP:0100261	Abnormal tendon morphology	8506	CNTNAP1	OMIM:618186
HP:0100261	Abnormal tendon morphology	23516	SLC39A14	OMIM:617013
HP:0100261	Abnormal tendon morphology	57679	ALS2	OMIM:205100
HP:0100261	Abnormal tendon morphology	7170	TPM3	OMIM:255310
HP:0100261	Abnormal tendon morphology	2902	GRIN1	OMIM:619814
HP:0100261	Abnormal tendon morphology	55131	RBM28	OMIM:612079
HP:0100261	Abnormal tendon morphology	2157	F8	ORPHA:169802
HP:0100261	Abnormal tendon morphology	51091	SEPSECS	OMIM:613811
HP:0100261	Abnormal tendon morphology	819	CAMLG	OMIM:620201
HP:0100261	Abnormal tendon morphology	5277	PIGA	OMIM:301072
HP:0100261	Abnormal tendon morphology	55768	NGLY1	ORPHA:404454
HP:0100261	Abnormal tendon morphology	1308	COL17A1	ORPHA:251393
HP:0100261	Abnormal tendon morphology	3691	ITGB4	ORPHA:251393
HP:0100261	Abnormal tendon morphology	9653	HS2ST1	OMIM:619194
HP:0100261	Abnormal tendon morphology	10290	SPEG	ORPHA:169186
HP:0100261	Abnormal tendon morphology	10290	SPEG	OMIM:615959
HP:0100261	Abnormal tendon morphology	9894	TELO2	ORPHA:488642
HP:0100261	Abnormal tendon morphology	285175	UNC80	OMIM:616801
HP:0100261	Abnormal tendon morphology	285175	UNC80	ORPHA:371364
HP:0100261	Abnormal tendon morphology	84992	PIGY	OMIM:616809
HP:0100261	Abnormal tendon morphology	2617	GARS1	OMIM:619042
HP:0100261	Abnormal tendon morphology	5745	PTH1R	OMIM:156400
HP:0100261	Abnormal tendon morphology	84068	SLC10A7	OMIM:618363
HP:0100261	Abnormal tendon morphology	7138	TNNT1	ORPHA:98902
HP:0100261	Abnormal tendon morphology	7138	TNNT1	OMIM:605355
HP:0100261	Abnormal tendon morphology	54681	P4HTM	OMIM:618493
HP:0100261	Abnormal tendon morphology	6023	RMRP	OMIM:607095
HP:0100261	Abnormal tendon morphology	3081	HGD	ORPHA:56
HP:0100261	Abnormal tendon morphology	3081	HGD	OMIM:203500
HP:0100261	Abnormal tendon morphology	3265	HRAS	ORPHA:3071
HP:0100261	Abnormal tendon morphology	1593	CYP27A1	ORPHA:909
HP:0100261	Abnormal tendon morphology	10342	TFG	ORPHA:431329
HP:0100261	Abnormal tendon morphology	5582	PRKCG	ORPHA:98763
HP:0100261	Abnormal tendon morphology	8139	GAN	ORPHA:643
HP:0100261	Abnormal tendon morphology	23204	ARL6IP1	ORPHA:401780
HP:0100261	Abnormal tendon morphology	5456	POU3F4	ORPHA:1435
HP:0100261	Abnormal tendon morphology	23389	MED13L	ORPHA:369891
HP:0100261	Abnormal tendon morphology	55628	ZNF407	OMIM:619557
HP:0100261	Abnormal tendon morphology	23219	FBXO28	OMIM:619777
HP:0100261	Abnormal tendon morphology	84265	POLR3GL	OMIM:619234
HP:0100261	Abnormal tendon morphology	3798	KIF5A	ORPHA:100991
HP:0100261	Abnormal tendon morphology	7528	YY1	ORPHA:506358
HP:0100261	Abnormal tendon morphology	7528	YY1	OMIM:617557
HP:0100261	Abnormal tendon morphology	34	ACADM	ORPHA:42
HP:0100261	Abnormal tendon morphology	57003	CCDC47	OMIM:618268
HP:0100261	Abnormal tendon morphology	4897	NRCAM	OMIM:619833
HP:0100261	Abnormal tendon morphology	55906	ZC4H2	ORPHA:3454
HP:0100261	Abnormal tendon morphology	55906	ZC4H2	OMIM:314580
HP:0100261	Abnormal tendon morphology	60386	SLC25A19	OMIM:613710
HP:0100261	Abnormal tendon morphology	2521	FUS	ORPHA:300605
HP:0100261	Abnormal tendon morphology	10280	SIGMAR1	ORPHA:300605
HP:0100261	Abnormal tendon morphology	10558	SPTLC1	ORPHA:300605
HP:0100261	Abnormal tendon morphology	80232	WDR26	ORPHA:513456
HP:0100261	Abnormal tendon morphology	3767	KCNJ11	ORPHA:99885
HP:0100261	Abnormal tendon morphology	6774	STAT3	ORPHA:99885
HP:0100261	Abnormal tendon morphology	2645	GCK	ORPHA:99885
HP:0100261	Abnormal tendon morphology	3651	PDX1	ORPHA:99885
HP:0100261	Abnormal tendon morphology	6833	ABCC8	ORPHA:99885
HP:0100261	Abnormal tendon morphology	3630	INS	ORPHA:99885
HP:0100261	Abnormal tendon morphology	9373	PLAA	ORPHA:521426
HP:0100261	Abnormal tendon morphology	9373	PLAA	OMIM:617527
HP:0100261	Abnormal tendon morphology	8818	DPM2	ORPHA:329178
HP:0100261	Abnormal tendon morphology	1193	CLIC2	ORPHA:324410
HP:0100261	Abnormal tendon morphology	5830	PEX5	OMIM:616716
HP:0100261	Abnormal tendon morphology	23556	PIGN	ORPHA:280633
HP:0100261	Abnormal tendon morphology	1984	EIF5A	OMIM:619376
HP:0100261	Abnormal tendon morphology	2643	GCH1	ORPHA:98808
HP:0100261	Abnormal tendon morphology	4929	NR4A2	ORPHA:98808
HP:0100261	Abnormal tendon morphology	3615	IMPDH2	ORPHA:98808
HP:0100261	Abnormal tendon morphology	6857	SYT1	ORPHA:522077
HP:0100261	Abnormal tendon morphology	22880	MORC2	ORPHA:466768
HP:0100261	Abnormal tendon morphology	113179	ADAT3	ORPHA:363528
HP:0100261	Abnormal tendon morphology	7043	TGFB3	OMIM:615582
HP:0100261	Abnormal tendon morphology	23141	ANKLE2	OMIM:616681
HP:0100261	Abnormal tendon morphology	23321	TRIM2	OMIM:615490
HP:0100261	Abnormal tendon morphology	9531	BAG3	OMIM:612954
HP:0100261	Abnormal tendon morphology	9051	PSTPIP1	OMIM:604416
HP:0100261	Abnormal tendon morphology	10804	GJB6	ORPHA:477
HP:0100261	Abnormal tendon morphology	2706	GJB2	ORPHA:477
HP:0100261	Abnormal tendon morphology	2706	GJB2	OMIM:148210
HP:0100261	Abnormal tendon morphology	9791	PTDSS1	OMIM:151050
HP:0100261	Abnormal tendon morphology	10613	ERLIN1	ORPHA:401785
HP:0100261	Abnormal tendon morphology	2222	FDFT1	OMIM:618156
HP:0100261	Abnormal tendon morphology	1376	CPT2	OMIM:608836
HP:0100261	Abnormal tendon morphology	5296	PIK3R2	OMIM:603387
HP:0100261	Abnormal tendon morphology	6392	SDHD	ORPHA:3208
HP:0100261	Abnormal tendon morphology	644096	SDHAF1	ORPHA:3208
HP:0100261	Abnormal tendon morphology	64116	SLC39A8	ORPHA:468699
HP:0100261	Abnormal tendon morphology	8449	DHX16	OMIM:618733
HP:0100261	Abnormal tendon morphology	1859	DYRK1A	ORPHA:464311
HP:0100261	Abnormal tendon morphology	29072	SETD2	ORPHA:821
HP:0100261	Abnormal tendon morphology	10297	APC2	ORPHA:821
HP:0100261	Abnormal tendon morphology	1605	DAG1	OMIM:613818
HP:0100261	Abnormal tendon morphology	1605	DAG1	ORPHA:280333
HP:0100261	Abnormal tendon morphology	6442	SGCA	OMIM:608099
HP:0100261	Abnormal tendon morphology	6840	SVIL	OMIM:619040
HP:0100261	Abnormal tendon morphology	6134	RPL10	ORPHA:435938
HP:0100261	Abnormal tendon morphology	22978	NT5C2	ORPHA:320396
HP:0100261	Abnormal tendon morphology	55958	KLHL9	ORPHA:399081
HP:0100261	Abnormal tendon morphology	83636	C19orf12	OMIM:615043
HP:0100261	Abnormal tendon morphology	84876	ORAI1	OMIM:615883
HP:0100261	Abnormal tendon morphology	163175	LGI4	OMIM:617468
HP:0100261	Abnormal tendon morphology	60681	FKBP10	OMIM:259450
HP:0100261	Abnormal tendon morphology	4773	NFATC2	OMIM:620232
HP:0100261	Abnormal tendon morphology	87178	PNPT1	ORPHA:319514
HP:0100261	Abnormal tendon morphology	8813	DPM1	OMIM:608799
HP:0100261	Abnormal tendon morphology	210	ALAD	ORPHA:100924
HP:0100261	Abnormal tendon morphology	513	ATP5F1D	OMIM:618120
HP:0100261	Abnormal tendon morphology	55681	SCYL2	ORPHA:1143
HP:0100261	Abnormal tendon morphology	84570	COL25A1	ORPHA:1143
HP:0100261	Abnormal tendon morphology	57222	ERGIC1	ORPHA:1143
HP:0100261	Abnormal tendon morphology	80208	SPG11	OMIM:616668
HP:0100261	Abnormal tendon morphology	57731	SPTBN4	OMIM:617519
HP:0100261	Abnormal tendon morphology	157570	ESCO2	OMIM:268300
HP:0100261	Abnormal tendon morphology	4633	MYL2	ORPHA:2020
HP:0100261	Abnormal tendon morphology	3679	ITGA7	ORPHA:2020
HP:0100261	Abnormal tendon morphology	9200	HACD1	ORPHA:2020
HP:0100261	Abnormal tendon morphology	51776	MAP3K20	ORPHA:2020
HP:0100261	Abnormal tendon morphology	51776	MAP3K20	OMIM:617760
HP:0100261	Abnormal tendon morphology	5297	PI4KA	OMIM:619621
HP:0100261	Abnormal tendon morphology	497661	C18orf32	OMIM:619985
HP:0100261	Abnormal tendon morphology	127833	SYT2	OMIM:619461
HP:0100261	Abnormal tendon morphology	4921	DDR2	OMIM:618175
HP:0100261	Abnormal tendon morphology	4703	NEB	ORPHA:399103
HP:0100261	Abnormal tendon morphology	7407	VARS1	OMIM:617802
HP:0100261	Abnormal tendon morphology	9896	FIG4	OMIM:611228
HP:0100261	Abnormal tendon morphology	65055	REEP1	OMIM:620011
HP:0100261	Abnormal tendon morphology	51305	KCNK9	ORPHA:166108
HP:0100261	Abnormal tendon morphology	4312	MMP1	ORPHA:79408
HP:0100261	Abnormal tendon morphology	1294	COL7A1	ORPHA:79408
HP:0100261	Abnormal tendon morphology	2972	BRF1	ORPHA:444072
HP:0100261	Abnormal tendon morphology	23259	DDHD2	ORPHA:320380
HP:0100261	Abnormal tendon morphology	54828	BCAS3	OMIM:619641
HP:0100261	Abnormal tendon morphology	51651	PTRH2	ORPHA:456312
HP:0100261	Abnormal tendon morphology	1235	CCR6	ORPHA:220402
HP:0100261	Abnormal tendon morphology	79932	KIAA0319L	ORPHA:220402
HP:0100261	Abnormal tendon morphology	1490	CCN2	ORPHA:220402
HP:0100261	Abnormal tendon morphology	3663	IRF5	ORPHA:220402
HP:0100261	Abnormal tendon morphology	857	CAV1	ORPHA:220402
HP:0100261	Abnormal tendon morphology	3123	HLA-DRB1	ORPHA:220402
HP:0100261	Abnormal tendon morphology	1161	ERCC8	ORPHA:90321
HP:0100261	Abnormal tendon morphology	2072	ERCC4	ORPHA:90321
HP:0100261	Abnormal tendon morphology	5307	PITX1	OMIM:186550
HP:0100261	Abnormal tendon morphology	10664	CTCF	ORPHA:363611
HP:0100261	Abnormal tendon morphology	26053	AUTS2	ORPHA:352490
HP:0100261	Abnormal tendon morphology	219854	TMEM218	OMIM:619562
HP:0100261	Abnormal tendon morphology	23291	FBXW11	OMIM:618914
HP:0100261	Abnormal tendon morphology	79912	PYROXD1	OMIM:617258
HP:0100261	Abnormal tendon morphology	9757	KMT2B	OMIM:619934
HP:0100261	Abnormal tendon morphology	3720	JARID2	OMIM:620098
HP:0100261	Abnormal tendon morphology	10765	KDM5B	OMIM:618109
HP:0100261	Abnormal tendon morphology	9487	PIGL	OMIM:280000
HP:0100261	Abnormal tendon morphology	10093	ARPC4	OMIM:620141
HP:0100261	Abnormal tendon morphology	25942	SIN3A	OMIM:613406
HP:0100261	Abnormal tendon morphology	11011	TLK2	OMIM:618050
HP:0100261	Abnormal tendon morphology	6909	TBX2	OMIM:618223
HP:0100261	Abnormal tendon morphology	80816	ASXL3	OMIM:615485
HP:0100261	Abnormal tendon morphology	81857	MED25	ORPHA:464738
HP:0100261	Abnormal tendon morphology	7390	UROS	OMIM:263700
HP:0100261	Abnormal tendon morphology	57449	PLEKHG5	OMIM:611067
HP:0100261	Abnormal tendon morphology	5376	PMP22	ORPHA:90658
HP:0100261	Abnormal tendon morphology	1277	COL1A1	OMIM:130060
HP:0100261	Abnormal tendon morphology	8985	PLOD3	OMIM:612394
HP:0100261	Abnormal tendon morphology	1889	ECE1	OMIM:613870
HP:0100261	Abnormal tendon morphology	4010	LMX1B	ORPHA:2614
HP:0100261	Abnormal tendon morphology	6662	SOX9	OMIM:114290
HP:0100261	Abnormal tendon morphology	4297	KMT2A	OMIM:605130
HP:0100261	Abnormal tendon morphology	336	APOA2	OMIM:143890
HP:0100261	Abnormal tendon morphology	2053	EPHX2	OMIM:143890
HP:0100261	Abnormal tendon morphology	10842	PPP1R17	OMIM:143890
HP:0100261	Abnormal tendon morphology	2690	GHR	OMIM:143890
HP:0100261	Abnormal tendon morphology	1071	CETP	ORPHA:79506
HP:0100261	Abnormal tendon morphology	345	APOC3	ORPHA:79506
HP:0100261	Abnormal tendon morphology	7274	TTPA	OMIM:277460
HP:0100261	Abnormal tendon morphology	348	APOE	ORPHA:412
HP:0100261	Abnormal tendon morphology	335	APOA1	OMIM:618463
HP:0100261	Abnormal tendon morphology	6583	SLC22A4	OMIM:180300
HP:0100261	Abnormal tendon morphology	4261	CIITA	OMIM:180300
HP:0100261	Abnormal tendon morphology	51744	CD244	OMIM:180300
HP:0100261	Abnormal tendon morphology	4795	NFKBIL1	OMIM:180300
HP:0100261	Abnormal tendon morphology	3586	IL10	OMIM:180300
HP:0100261	Abnormal tendon morphology	3008	H1-4	OMIM:617537
HP:0100261	Abnormal tendon morphology	9382	COG1	OMIM:611209
HP:0100261	Abnormal tendon morphology	57231	SNX14	ORPHA:397709
HP:0100261	Abnormal tendon morphology	57231	SNX14	OMIM:616354
HP:0100261	Abnormal tendon morphology	7125	TNNC2	OMIM:620161
HP:0100261	Abnormal tendon morphology	56992	KIF15	ORPHA:261323
HP:0100261	Abnormal tendon morphology	57589	RIC1	OMIM:618761
HP:0100261	Abnormal tendon morphology	80776	B9D2	OMIM:614175
HP:0100261	Abnormal tendon morphology	1954	MEGF8	OMIM:614976
HP:0100261	Abnormal tendon morphology	23314	SATB2	OMIM:612313
HP:0100261	Abnormal tendon morphology	8642	DCHS1	OMIM:601390
HP:0100261	Abnormal tendon morphology	8642	DCHS1	ORPHA:314679
HP:0100261	Abnormal tendon morphology	79053	ALG8	OMIM:608104
HP:0100261	Abnormal tendon morphology	79053	ALG8	ORPHA:79325
HP:0100261	Abnormal tendon morphology	26227	PHGDH	OMIM:256520
HP:0100261	Abnormal tendon morphology	57167	SALL4	ORPHA:233
HP:0100261	Abnormal tendon morphology	1123	CHN1	ORPHA:233
HP:0100261	Abnormal tendon morphology	3572	IL6ST	OMIM:619751
HP:0100261	Abnormal tendon morphology	7862	BRPF1	OMIM:617333
HP:0100261	Abnormal tendon morphology	1001	CDH3	OMIM:225280
HP:0100261	Abnormal tendon morphology	5828	PEX2	OMIM:614866
HP:0100261	Abnormal tendon morphology	79228	THOC6	ORPHA:363444
HP:0100261	Abnormal tendon morphology	4094	MAF	ORPHA:1272
HP:0100261	Abnormal tendon morphology	4094	MAF	OMIM:601088
HP:0100261	Abnormal tendon morphology	4089	SMAD4	OMIM:139210
HP:0100261	Abnormal tendon morphology	11107	PRDM5	ORPHA:90354
HP:0100261	Abnormal tendon morphology	84627	ZNF469	ORPHA:90354
HP:0100261	Abnormal tendon morphology	8626	TP63	OMIM:603543
HP:0100261	Abnormal tendon morphology	79087	ALG12	ORPHA:79324
HP:0100261	Abnormal tendon morphology	26100	WIPI2	OMIM:618453
HP:0100261	Abnormal tendon morphology	8621	CDK13	OMIM:617360
HP:0100261	Abnormal tendon morphology	9427	ECEL1	OMIM:615065
HP:0100261	Abnormal tendon morphology	2702	GJA5	OMIM:612474
HP:0100261	Abnormal tendon morphology	2703	GJA8	OMIM:612474
HP:0100261	Abnormal tendon morphology	1801	DPH1	ORPHA:459061
HP:0100261	Abnormal tendon morphology	81848	SPRY4	ORPHA:432
HP:0100261	Abnormal tendon morphology	128674	PROKR2	ORPHA:432
HP:0100261	Abnormal tendon morphology	60675	PROK2	ORPHA:432
HP:0100261	Abnormal tendon morphology	55636	CHD7	ORPHA:432
HP:0100261	Abnormal tendon morphology	6870	TACR3	ORPHA:432
HP:0100261	Abnormal tendon morphology	1848	DUSP6	ORPHA:432
HP:0100261	Abnormal tendon morphology	26012	NSMF	ORPHA:432
HP:0100261	Abnormal tendon morphology	55717	WDR11	ORPHA:432
HP:0100261	Abnormal tendon morphology	9394	HS6ST1	ORPHA:432
HP:0100261	Abnormal tendon morphology	2796	GNRH1	ORPHA:432
HP:0100261	Abnormal tendon morphology	2798	GNRHR	ORPHA:432
HP:0100261	Abnormal tendon morphology	84634	KISS1R	ORPHA:432
HP:0100261	Abnormal tendon morphology	6866	TAC3	ORPHA:432
HP:0100261	Abnormal tendon morphology	8822	FGF17	ORPHA:432
HP:0100261	Abnormal tendon morphology	3814	KISS1	ORPHA:432
HP:0100261	Abnormal tendon morphology	1281	COL3A1	OMIM:618343
HP:0100261	Abnormal tendon morphology	9158	FIBP	ORPHA:500095
HP:0100261	Abnormal tendon morphology	54808	DYM	OMIM:223800
HP:0100261	Abnormal tendon morphology	56915	EXOSC5	OMIM:619576
HP:0100261	Abnormal tendon morphology	92255	LMBRD2	OMIM:619694
HP:0100261	Abnormal tendon morphology	23511	NUP188	OMIM:618804
HP:0100261	Abnormal tendon morphology	92344	GORAB	OMIM:231070
HP:0100261	Abnormal tendon morphology	727857	BHLHA9	OMIM:607539
HP:0100261	Abnormal tendon morphology	10943	MSL3	OMIM:301032
HP:0100261	Abnormal tendon morphology	79576	NKAP	OMIM:301039
HP:0100261	Abnormal tendon morphology	25	ABL1	OMIM:617602
HP:0100261	Abnormal tendon morphology	3930	LBR	OMIM:618019
HP:0100261	Abnormal tendon morphology	26040	SETBP1	ORPHA:798
HP:0100261	Abnormal tendon morphology	6611	SMS	ORPHA:3063
HP:0100261	Abnormal tendon morphology	51715	RAB23	OMIM:201000
HP:0100261	Abnormal tendon morphology	83737	ITCH	OMIM:613385
HP:0100261	Abnormal tendon morphology	83737	ITCH	ORPHA:228426
HP:0100261	Abnormal tendon morphology	90416	CCDC32	OMIM:619123
HP:0100261	Abnormal tendon morphology	139285	AMER1	OMIM:300373
HP:0100261	Abnormal tendon morphology	10084	PQBP1	OMIM:309500
HP:0100261	Abnormal tendon morphology	6913	TBX15	OMIM:260660
HP:0100261	Abnormal tendon morphology	2036	EPB41L1	OMIM:614257
HP:0100261	Abnormal tendon morphology	529	ATP6V1E1	OMIM:617402
HP:0100261	Abnormal tendon morphology	4233	MET	OMIM:620019
HP:0100261	Abnormal tendon morphology	171023	ASXL1	ORPHA:97297
HP:0100261	Abnormal tendon morphology	28982	FLVCR1	ORPHA:88628
HP:0100261	Abnormal tendon morphology	28982	FLVCR1	OMIM:609033
HP:0100261	Abnormal tendon morphology	9365	KL	OMIM:617994
HP:0100261	Abnormal tendon morphology	64065	PERP	OMIM:619208
HP:0100261	Abnormal tendon morphology	1272	CNTN1	OMIM:612540
HP:0100261	Abnormal tendon morphology	64423	INF2	OMIM:614455
HP:0100261	Abnormal tendon morphology	10397	NDRG1	OMIM:601455
HP:0100261	Abnormal tendon morphology	3315	HSPB1	OMIM:606595
HP:0100261	Abnormal tendon morphology	8566	PDXK	OMIM:618511
HP:0100261	Abnormal tendon morphology	3098	HK1	OMIM:605285
HP:0100261	Abnormal tendon morphology	3481	IGF2	OMIM:616489
HP:0100261	Abnormal tendon morphology	23387	SIK3	OMIM:618162
HP:0100261	Abnormal tendon morphology	57038	RARS2	OMIM:611523
HP:0100261	Abnormal tendon morphology	79644	SRD5A3	OMIM:612713
HP:0100261	Abnormal tendon morphology	23327	NEDD4L	OMIM:617201
HP:0100261	Abnormal tendon morphology	11340	EXOSC8	OMIM:616081
HP:0100261	Abnormal tendon morphology	55975	KLHL7	OMIM:617055
HP:0100261	Abnormal tendon morphology	80347	COASY	OMIM:618266
HP:0100261	Abnormal tendon morphology	197258	FCSK	OMIM:618324
HP:0100261	Abnormal tendon morphology	2530	FUT8	OMIM:618005
HP:0100261	Abnormal tendon morphology	112939	NACC1	OMIM:617393
HP:0100261	Abnormal tendon morphology	11019	LIAS	OMIM:614462
HP:0100261	Abnormal tendon morphology	54892	NCAPG2	OMIM:618460
HP:0100261	Abnormal tendon morphology	51501	HIKESHI	OMIM:616881
HP:0100261	Abnormal tendon morphology	29925	GMPPB	OMIM:615351
HP:0100261	Abnormal tendon morphology	9255	AIMP1	OMIM:260600
HP:0100261	Abnormal tendon morphology	56270	WDR45B	OMIM:617977
HP:0100261	Abnormal tendon morphology	5111	PCNA	OMIM:615919
HP:0100261	Abnormal tendon morphology	145258	GSC	OMIM:602471
HP:0100261	Abnormal tendon morphology	9325	TRIP4	OMIM:617066
HP:0100261	Abnormal tendon morphology	633	BGN	OMIM:300989
HP:0100261	Abnormal tendon morphology	5424	POLD1	OMIM:615381
HP:0100261	Abnormal tendon morphology	5159	PDGFRB	OMIM:601812
HP:0100261	Abnormal tendon morphology	58497	PRUNE1	OMIM:617481
HP:0100261	Abnormal tendon morphology	65993	MRPS34	OMIM:617664
HP:0100261	Abnormal tendon morphology	55331	ACER3	OMIM:617762
HP:0100261	Abnormal tendon morphology	55640	FLVCR2	OMIM:225790
HP:0100261	Abnormal tendon morphology	84340	GFM2	OMIM:618397
HP:0100261	Abnormal tendon morphology	523	ATP6V1A	OMIM:617403
HP:0100261	Abnormal tendon morphology	2893	GRIA4	OMIM:617864
HP:0100261	Abnormal tendon morphology	221927	BRAT1	OMIM:614498
HP:0100261	Abnormal tendon morphology	6785	ELOVL4	OMIM:614457
HP:0100261	Abnormal tendon morphology	126792	B3GALT6	OMIM:615349
HP:0100261	Abnormal tendon morphology	23534	TNPO3	OMIM:608423
HP:0100261	Abnormal tendon morphology	374393	FAM111B	OMIM:615704
HP:0100261	Abnormal tendon morphology	7273	TTN	OMIM:611705
HP:0100261	Abnormal tendon morphology	56052	ALG1	OMIM:608540
HP:0100261	Abnormal tendon morphology	6786	STIM1	OMIM:160565
HP:0100261	Abnormal tendon morphology	57211	ADGRG6	OMIM:616503
HP:0100261	Abnormal tendon morphology	3949	LDLR	ORPHA:391665
HP:0100261	Abnormal tendon morphology	255738	PCSK9	ORPHA:391665
HP:0100261	Abnormal tendon morphology	26119	LDLRAP1	ORPHA:391665
HP:0100261	Abnormal tendon morphology	338	APOB	ORPHA:391665
HP:0100261	Abnormal tendon morphology	64240	ABCG5	ORPHA:391665
HP:0100261	Abnormal tendon morphology	64241	ABCG8	ORPHA:391665
HP:0100261	Abnormal tendon morphology	57704	GBA2	ORPHA:320391
HP:0100261	Abnormal tendon morphology	5528	PPP2R5D	ORPHA:457279
HP:0100261	Abnormal tendon morphology	2218	FKTN	ORPHA:272
HP:0100261	Abnormal tendon morphology	4621	MYH3	ORPHA:2053
HP:0100261	Abnormal tendon morphology	4621	MYH3	ORPHA:1146
HP:0100261	Abnormal tendon morphology	4621	MYH3	ORPHA:2990
HP:0100261	Abnormal tendon morphology	259232	NALCN	ORPHA:2053
HP:0100261	Abnormal tendon morphology	259232	NALCN	ORPHA:1146
HP:0100261	Abnormal tendon morphology	8294	H4C9	OMIM:619951
HP:0100261	Abnormal tendon morphology	3094	HINT1	ORPHA:324442
HP:0100261	Abnormal tendon morphology	8838	CCN6	OMIM:208230
HP:0100261	Abnormal tendon morphology	1947	EFNB1	ORPHA:1520
HP:0100261	Abnormal tendon morphology	7355	SLC35A2	ORPHA:356961
HP:0100261	Abnormal tendon morphology	118429	ANTXR2	ORPHA:2176
HP:0100261	Abnormal tendon morphology	5077	PAX3	ORPHA:1529
HP:0100261	Abnormal tendon morphology	5077	PAX3	ORPHA:896
HP:0100261	Abnormal tendon morphology	5077	PAX3	OMIM:148820
HP:0100261	Abnormal tendon morphology	2316	FLNA	OMIM:300244
HP:0100261	Abnormal tendon morphology	2316	FLNA	ORPHA:90652
HP:0100261	Abnormal tendon morphology	2316	FLNA	ORPHA:1826
HP:0100261	Abnormal tendon morphology	2316	FLNA	OMIM:305620
HP:0100261	Abnormal tendon morphology	9241	NOG	ORPHA:3250
HP:0100261	Abnormal tendon morphology	8200	GDF5	ORPHA:3250
HP:0100261	Abnormal tendon morphology	54968	TMEM70	ORPHA:1194
HP:0100261	Abnormal tendon morphology	613	BCR	ORPHA:261330
HP:0100261	Abnormal tendon morphology	1399	CRKL	ORPHA:261330
HP:0100261	Abnormal tendon morphology	5594	MAPK1	ORPHA:261330
HP:0100261	Abnormal tendon morphology	84466	MEGF10	OMIM:614399
HP:0100261	Abnormal tendon morphology	72	ACTG2	ORPHA:2604
HP:0100261	Abnormal tendon morphology	10216	PRG4	ORPHA:2848
HP:0100261	Abnormal tendon morphology	3508	IGHMBP2	OMIM:604320
HP:0100261	Abnormal tendon morphology	6926	TBX3	ORPHA:3138
HP:0100261	Abnormal tendon morphology	51360	MBTPS2	ORPHA:2273
HP:0100261	Abnormal tendon morphology	10381	TUBB3	OMIM:600638
HP:0100261	Abnormal tendon morphology	9469	CHST3	OMIM:143095
HP:0100261	Abnormal tendon morphology	3423	IDS	ORPHA:217085
HP:0100261	Abnormal tendon morphology	3423	IDS	ORPHA:217093
HP:0100261	Abnormal tendon morphology	64359	NXN	ORPHA:1507
HP:0100261	Abnormal tendon morphology	4920	ROR2	ORPHA:1507
HP:0100261	Abnormal tendon morphology	2697	GJA1	ORPHA:2710
HP:0100261	Abnormal tendon morphology	2697	GJA1	ORPHA:93404
HP:0100261	Abnormal tendon morphology	64127	NOD2	OMIM:186580
HP:0100261	Abnormal tendon morphology	64127	NOD2	ORPHA:90340
HP:0100261	Abnormal tendon morphology	6999	TDO2	OMIM:600627
HP:0100261	Abnormal tendon morphology	1301	COL11A1	ORPHA:2021
HP:0100261	Abnormal tendon morphology	1302	COL11A2	ORPHA:2021
HP:0100261	Abnormal tendon morphology	10716	TBR1	ORPHA:1617
HP:0100261	Abnormal tendon morphology	3425	IDUA	OMIM:607015
HP:0100261	Abnormal tendon morphology	3425	IDUA	ORPHA:93473
HP:0100261	Abnormal tendon morphology	4593	MUSK	OMIM:208150
HP:0100261	Abnormal tendon morphology	4593	MUSK	ORPHA:994
HP:0100261	Abnormal tendon morphology	63895	PIEZO2	OMIM:114300
HP:0100261	Abnormal tendon morphology	63895	PIEZO2	ORPHA:376
HP:0100261	Abnormal tendon morphology	63895	PIEZO2	ORPHA:2461
HP:0100261	Abnormal tendon morphology	56006	SMG9	OMIM:616920
HP:0100261	Abnormal tendon morphology	1857	DVL3	ORPHA:3107
HP:0100261	Abnormal tendon morphology	7474	WNT5A	ORPHA:3107
HP:0100261	Abnormal tendon morphology	1855	DVL1	ORPHA:3107
HP:0100261	Abnormal tendon morphology	2535	FZD2	ORPHA:3107
HP:0100261	Abnormal tendon morphology	9508	ADAMTS3	ORPHA:2136
HP:0100261	Abnormal tendon morphology	147372	CCBE1	ORPHA:2136
HP:0100261	Abnormal tendon morphology	79633	FAT4	ORPHA:2136
HP:0100261	Abnormal tendon morphology	5189	PEX1	ORPHA:3220
HP:0100261	Abnormal tendon morphology	5190	PEX6	ORPHA:3220
HP:0100261	Abnormal tendon morphology	5590	PRKCZ	ORPHA:1606
HP:0100261	Abnormal tendon morphology	2563	GABRD	ORPHA:1606
HP:0100261	Abnormal tendon morphology	23013	SPEN	ORPHA:1606
HP:0100261	Abnormal tendon morphology	8510	MMP23B	ORPHA:1606
HP:0100261	Abnormal tendon morphology	7798	LUZP1	ORPHA:1606
HP:0100261	Abnormal tendon morphology	6497	SKI	ORPHA:1606
HP:0100261	Abnormal tendon morphology	6497	SKI	ORPHA:2462
HP:0100261	Abnormal tendon morphology	10630	PDPN	ORPHA:1606
HP:0100261	Abnormal tendon morphology	3339	HSPG2	ORPHA:1606
HP:0100261	Abnormal tendon morphology	10277	UBE4B	ORPHA:1606
HP:0100261	Abnormal tendon morphology	8514	KCNAB2	ORPHA:1606
HP:0100261	Abnormal tendon morphology	473	RERE	ORPHA:1606
HP:0100261	Abnormal tendon morphology	63976	PRDM16	ORPHA:1606
HP:0100261	Abnormal tendon morphology	54897	CASZ1	ORPHA:1606
HP:0100261	Abnormal tendon morphology	9719	ADAMTSL2	OMIM:231050
HP:0100261	Abnormal tendon morphology	4952	OCRL	OMIM:309000
HP:0100261	Abnormal tendon morphology	8517	IKBKG	ORPHA:464
HP:0100261	Abnormal tendon morphology	10436	EMG1	ORPHA:1270
HP:0100261	Abnormal tendon morphology	57492	ARID1B	ORPHA:251056
HP:0100261	Abnormal tendon morphology	11128	POLR3A	ORPHA:3455
HP:0100261	Abnormal tendon morphology	2239	GPC4	ORPHA:373
HP:0100261	Abnormal tendon morphology	2719	GPC3	ORPHA:373
HP:0100261	Abnormal tendon morphology	55612	FERMT1	ORPHA:2908
HP:0100261	Abnormal tendon morphology	3977	LIFR	ORPHA:3206
HP:0100261	Abnormal tendon morphology	23483	TGDS	ORPHA:1388
HP:0100261	Abnormal tendon morphology	2260	FGFR1	OMIM:166250
HP:0100261	Abnormal tendon morphology	7140	TNNT3	ORPHA:1146
HP:0100261	Abnormal tendon morphology	7169	TPM2	ORPHA:1146
HP:0100261	Abnormal tendon morphology	7136	TNNI2	ORPHA:1146
HP:0100261	Abnormal tendon morphology	7136	TNNI2	OMIM:601680
HP:0100261	Abnormal tendon morphology	4604	MYBPC1	ORPHA:1146
HP:0100261	Abnormal tendon morphology	6885	MAP3K7	ORPHA:1826
HP:0100261	Abnormal tendon morphology	117581	TWIST2	ORPHA:920
HP:0100261	Abnormal tendon morphology	64324	NSD1	ORPHA:3447
HP:0100261	Abnormal tendon morphology	8726	EED	ORPHA:3447
HP:0100261	Abnormal tendon morphology	23512	SUZ12	ORPHA:3447
HP:0100261	Abnormal tendon morphology	2146	EZH2	ORPHA:3447
HP:0100261	Abnormal tendon morphology	1723	DHODH	ORPHA:246
HP:0100261	Abnormal tendon morphology	257	ALX3	ORPHA:391474
HP:0100261	Abnormal tendon morphology	3239	HOXD13	OMIM:186300
HP:0100261	Abnormal tendon morphology	3239	HOXD13	ORPHA:93406
HP:0100261	Abnormal tendon morphology	54903	MKS1	OMIM:249000
HP:0100261	Abnormal tendon morphology	91252	SLC39A13	OMIM:612350
HP:0100261	Abnormal tendon morphology	22930	RAB3GAP1	OMIM:619420
HP:0100261	Abnormal tendon morphology	7046	TGFBR1	ORPHA:60030
HP:0100261	Abnormal tendon morphology	10526	IPO8	ORPHA:60030
HP:0100261	Abnormal tendon morphology	7048	TGFBR2	ORPHA:60030
HP:0100261	Abnormal tendon morphology	3897	L1CAM	ORPHA:2466
HP:0100261	Abnormal tendon morphology	2245	FGD1	ORPHA:915
HP:0100261	Abnormal tendon morphology	2200	FBN1	ORPHA:2462
HP:0100261	Abnormal tendon morphology	2201	FBN2	ORPHA:115
HP:0100261	Abnormal tendon morphology	7227	TRPS1	ORPHA:77258
HP:0100261	Abnormal tendon morphology	4088	SMAD3	ORPHA:284984
HP:0100261	Abnormal tendon morphology	27238	GPKOW	ORPHA:2570
HP:0100261	Abnormal tendon morphology	10466	COG5	ORPHA:263487
HP:0100261	Abnormal tendon morphology	55315	SLC29A3	OMIM:602782
HP:0100261	Abnormal tendon morphology	23102	TBC1D2B	OMIM:619323
HP:0100261	Abnormal tendon morphology	2068	ERCC2	OMIM:610756
HP:0100261	Abnormal tendon morphology	2068	ERCC2	ORPHA:1466
HP:0100261	Abnormal tendon morphology	51114	ZDHHC9	ORPHA:776
HP:0100261	Abnormal tendon morphology	65109	UPF3B	ORPHA:776
HP:0100261	Abnormal tendon morphology	9968	MED12	ORPHA:776
HP:0100261	Abnormal tendon morphology	2067	ERCC1	OMIM:610758
HP:0100261	Abnormal tendon morphology	2067	ERCC1	ORPHA:1466
HP:0100261	Abnormal tendon morphology	114548	NLRP3	ORPHA:575
HP:0100261	Abnormal tendon morphology	2074	ERCC6	ORPHA:1466
HP:0100261	Abnormal tendon morphology	2073	ERCC5	ORPHA:1466
HP:0100261	Abnormal tendon morphology	134701	RIPPLY2	ORPHA:2311
HP:0100261	Abnormal tendon morphology	10683	DLL3	ORPHA:2311
HP:0100261	Abnormal tendon morphology	3955	LFNG	ORPHA:2311
HP:0100261	Abnormal tendon morphology	84667	HES7	ORPHA:2311
HP:0100261	Abnormal tendon morphology	145873	MESP2	ORPHA:2311
HP:0100261	Abnormal tendon morphology	81620	CDT1	ORPHA:2554
HP:0100261	Abnormal tendon morphology	5000	ORC4	ORPHA:2554
HP:0100261	Abnormal tendon morphology	23594	ORC6	ORPHA:2554
HP:0100261	Abnormal tendon morphology	8318	CDC45	ORPHA:2554
HP:0100261	Abnormal tendon morphology	990	CDC6	ORPHA:2554
HP:0100261	Abnormal tendon morphology	4998	ORC1	ORPHA:2554
HP:0100261	Abnormal tendon morphology	51053	GMNN	ORPHA:2554
HP:0100261	Abnormal tendon morphology	8260	NAA10	ORPHA:568
HP:0100261	Abnormal tendon morphology	54880	BCOR	ORPHA:568
HP:0100261	Abnormal tendon morphology	64327	LMBR1	ORPHA:93405
HP:0100261	Abnormal tendon morphology	6469	SHH	ORPHA:93405
HP:0100261	Abnormal tendon morphology	4927	NUP88	ORPHA:994
HP:0100261	Abnormal tendon morphology	7846	TUBA1A	ORPHA:994
HP:0100261	Abnormal tendon morphology	4654	MYOD1	ORPHA:994
HP:0100261	Abnormal tendon morphology	5913	RAPSN	ORPHA:994
HP:0100261	Abnormal tendon morphology	6572	SLC18A3	ORPHA:994
HP:0100261	Abnormal tendon morphology	285489	DOK7	ORPHA:994
HP:0100261	Abnormal tendon morphology	3914	LAMB3	OMIM:226650
HP:0100261	Abnormal tendon morphology	9150	CTDP1	ORPHA:48431
HP:0100261	Abnormal tendon morphology	8092	ALX1	ORPHA:306542
HP:0100261	Abnormal tendon morphology	29895	MYL11	OMIM:619110
HP:0100261	Abnormal tendon morphology	64840	PORCN	ORPHA:2092
HP:0100261	Abnormal tendon morphology	23443	SLC35A3	OMIM:615553
HP:0100261	Abnormal tendon morphology	285590	SH3PXD2B	ORPHA:137834
HP:0100261	Abnormal tendon morphology	1836	SLC26A2	ORPHA:628
HP:0100261	Abnormal tendon morphology	25914	RTTN	ORPHA:468631
HP:0100261	Abnormal tendon morphology	9935	MAFB	ORPHA:2774
HP:0100261	Abnormal tendon morphology	28952	CCDC22	OMIM:300963
HP:0100261	Abnormal tendon morphology	8450	CUL4B	ORPHA:85293
HP:0100261	Abnormal tendon morphology	1303	COL12A1	ORPHA:610
HP:0100261	Abnormal tendon morphology	1291	COL6A1	ORPHA:610
HP:0100261	Abnormal tendon morphology	1291	COL6A1	OMIM:158810
HP:0100261	Abnormal tendon morphology	1292	COL6A2	ORPHA:610
HP:0100261	Abnormal tendon morphology	1292	COL6A2	OMIM:158810
HP:0100261	Abnormal tendon morphology	1293	COL6A3	ORPHA:610
HP:0100261	Abnormal tendon morphology	1293	COL6A3	OMIM:158810
HP:0100261	Abnormal tendon morphology	26092	TOR1AIP1	OMIM:617072
HP:0100261	Abnormal tendon morphology	8242	KDM5C	ORPHA:85279
HP:0100261	Abnormal tendon morphology	59341	TRPV4	ORPHA:2635
HP:0100261	Abnormal tendon morphology	2261	FGFR3	ORPHA:85164
HP:0100261	Abnormal tendon morphology	4000	LMNA	ORPHA:1662
HP:0100261	Abnormal tendon morphology	10269	ZMPSTE24	ORPHA:1662
HP:0100261	Abnormal tendon morphology	1146	CHRNG	ORPHA:2990
HP:0100261	Abnormal tendon morphology	23522	KAT6B	ORPHA:3047
HP:0100261	Abnormal tendon morphology	26123	TCTN3	ORPHA:2753
HP:0100261	Abnormal tendon morphology	64131	XYLT1	ORPHA:1425
HP:0100261	Abnormal tendon morphology	124583	CANT1	ORPHA:1425
HP:0100261	Abnormal tendon morphology	55790	CSGALNACT1	ORPHA:1425
HP:0100261	Abnormal tendon morphology	23529	CLCF1	ORPHA:1545
HP:0100261	Abnormal tendon morphology	9244	CRLF1	ORPHA:1545
HP:0100261	Abnormal tendon morphology	51002	TPRKB	ORPHA:2065
HP:0100261	Abnormal tendon morphology	84942	WDR73	ORPHA:2065
HP:0100261	Abnormal tendon morphology	55644	OSGEP	ORPHA:2065
HP:0100261	Abnormal tendon morphology	57122	NUP107	ORPHA:2065
HP:0100261	Abnormal tendon morphology	10785	WDR4	ORPHA:2065
HP:0100261	Abnormal tendon morphology	55746	NUP133	ORPHA:2065
HP:0100261	Abnormal tendon morphology	112858	TP53RK	ORPHA:2065
HP:0100261	Abnormal tendon morphology	8270	LAGE3	ORPHA:2065
HP:0100261	Abnormal tendon morphology	5696	PSMB8	OMIM:256040
HP:0100261	Abnormal tendon morphology	56916	SMARCAD1	ORPHA:1658
HP:0100261	Abnormal tendon morphology	7276	TTR	ORPHA:85451
HP:0100261	Abnormal tendon morphology	11117	EMILIN1	OMIM:620080
HP:0100261	Abnormal tendon morphology	1278	COL1A2	ORPHA:230851
HP:0100266	Synostosis of carpals/tarsals	538	ATP7A	OMIM:304150
HP:0100266	Synostosis of carpals/tarsals	2317	FLNB	OMIM:272460
HP:0100266	Synostosis of carpals/tarsals	54928	BPNT2	OMIM:614078
HP:0100266	Synostosis of carpals/tarsals	2261	FGFR3	OMIM:602849
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:2639
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:2098
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:3250
HP:0100266	Synostosis of carpals/tarsals	658	BMPR1B	ORPHA:2639
HP:0100266	Synostosis of carpals/tarsals	658	BMPR1B	ORPHA:2098
HP:0100266	Synostosis of carpals/tarsals	64359	NXN	ORPHA:1507
HP:0100266	Synostosis of carpals/tarsals	4920	ROR2	ORPHA:1507
HP:0100266	Synostosis of carpals/tarsals	64327	LMBR1	ORPHA:988
HP:0100266	Synostosis of carpals/tarsals	6469	SHH	ORPHA:988
HP:0100266	Synostosis of carpals/tarsals	157570	ESCO2	ORPHA:3103
HP:0100266	Synostosis of carpals/tarsals	3209	HOXA13	ORPHA:2438
HP:0100266	Synostosis of carpals/tarsals	64093	SMOC1	ORPHA:1106
HP:0100266	Synostosis of carpals/tarsals	5566	PRKACA	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	5567	PRKACB	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	2735	GLI1	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	2121	EVC	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	51626	DYNC2LI1	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	132884	EVC2	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	727857	BHLHA9	ORPHA:157801
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	ORPHA:3250
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	ORPHA:140908
HP:0100266	Synostosis of carpals/tarsals	9555	MACROH2A1	ORPHA:1275
HP:0100266	Synostosis of carpals/tarsals	5307	PITX1	ORPHA:1275
HP:0100266	Synostosis of carpals/tarsals	57167	SALL4	ORPHA:2307
HP:0100266	Synostosis of carpals/tarsals	4038	LRP4	ORPHA:3258
HP:0100266	Synostosis of carpals/tarsals	324	APC	ORPHA:3258
HP:0100266	Synostosis of carpals/tarsals	5077	PAX3	ORPHA:896
HP:0100266	Synostosis of carpals/tarsals	2263	FGFR2	OMIM:101200
HP:0100266	Synostosis of carpals/tarsals	6885	MAP3K7	ORPHA:3238
HP:0100266	Synostosis of carpals/tarsals	9496	TBX4	OMIM:147891
HP:0100266	Synostosis of carpals/tarsals	2316	FLNA	OMIM:305620
HP:0100266	Synostosis of carpals/tarsals	2260	FGFR1	OMIM:123150
HP:0100266	Synostosis of carpals/tarsals	5447	POR	OMIM:201750
HP:0100266	Synostosis of carpals/tarsals	5447	POR	ORPHA:95699
HP:0100266	Synostosis of carpals/tarsals	392255	GDF6	OMIM:617898
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	OMIM:618469
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	OMIM:178110
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	7140	TNNT3	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	7169	TPM2	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	259232	NALCN	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	7136	TNNI2	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	8195	MKKS	ORPHA:2473
HP:0100266	Synostosis of carpals/tarsals	8481	OFD1	ORPHA:2750
HP:0100266	Synostosis of carpals/tarsals	2192	FBLN1	OMIM:608180
HP:0100266	Synostosis of carpals/tarsals	2737	GLI3	ORPHA:93322
HP:0100266	Synostosis of carpals/tarsals	85301	COL27A1	OMIM:615155
HP:0100266	Synostosis of carpals/tarsals	9939	RBM8A	OMIM:274000
HP:0100266	Synostosis of carpals/tarsals	9401	RECQL4	OMIM:218600
HP:0100266	Synostosis of carpals/tarsals	3239	HOXD13	OMIM:186300
HP:0100266	Synostosis of carpals/tarsals	126792	B3GALT6	OMIM:615349
HP:0100266	Synostosis of carpals/tarsals	126792	B3GALT6	OMIM:271640
HP:0100266	Synostosis of carpals/tarsals	22856	CHSY1	ORPHA:363417
HP:0100267	Lip pit	3664	IRF6	OMIM:119300
HP:0100267	Lip pit	3664	IRF6	ORPHA:888
HP:0100267	Lip pit	3664	IRF6	OMIM:119500
HP:0100267	Lip pit	7403	KDM6A	OMIM:300867
HP:0100267	Lip pit	57822	GRHL3	ORPHA:888
HP:0100267	Lip pit	54101	RIPK4	ORPHA:1401
HP:0100267	Lip pit	54101	RIPK4	OMIM:214350
HP:0100267	Lip pit	4487	MSX1	ORPHA:141291
HP:0100267	Lip pit	5818	NECTIN1	ORPHA:141291
HP:0100267	Lip pit	8626	TP63	ORPHA:141291
HP:0100267	Lip pit	8626	TP63	ORPHA:1072
HP:0100267	Lip pit	8085	KMT2D	ORPHA:2322
HP:0100267	Lip pit	2138	EYA1	ORPHA:52429
HP:0100267	Lip pit	6495	SIX1	ORPHA:52429
HP:0100267	Lip pit	8481	OFD1	ORPHA:2750
HP:0100267	Lip pit	6608	SMO	OMIM:601707
HP:0100267	Lip pit	7020	TFAP2A	ORPHA:1297
HP:0100264	Proximal symphalangism	9791	PTDSS1	OMIM:151050
HP:0100264	Proximal symphalangism	22856	CHSY1	ORPHA:363417
HP:0100264	Proximal symphalangism	4920	ROR2	OMIM:268310
HP:0100264	Proximal symphalangism	727857	BHLHA9	OMIM:609432
HP:0100264	Proximal symphalangism	10084	PQBP1	OMIM:309500
HP:0100264	Proximal symphalangism	4841	NONO	OMIM:300967
HP:0100264	Proximal symphalangism	8200	GDF5	ORPHA:3250
HP:0100264	Proximal symphalangism	8200	GDF5	OMIM:610017
HP:0100264	Proximal symphalangism	9241	NOG	OMIM:186500
HP:0100265	Synostosis of metacarpals/metatarsals	1836	SLC26A2	ORPHA:93307
HP:0100265	Synostosis of metacarpals/metatarsals	3239	HOXD13	ORPHA:93406
HP:0100265	Synostosis of metacarpals/metatarsals	2192	FBLN1	OMIM:608180
HP:0100265	Synostosis of metacarpals/metatarsals	2254	FGF9	OMIM:612961
HP:0100265	Synostosis of metacarpals/metatarsals	6299	SALL1	OMIM:107480
HP:0100265	Synostosis of metacarpals/metatarsals	64093	SMOC1	OMIM:206920
HP:0100265	Synostosis of metacarpals/metatarsals	5447	POR	ORPHA:95699
HP:0100265	Synostosis of metacarpals/metatarsals	8823	FGF16	OMIM:309630
HP:0100265	Synostosis of metacarpals/metatarsals	9775	EIF4A3	OMIM:268305
HP:0100265	Synostosis of metacarpals/metatarsals	9241	NOG	ORPHA:3250
HP:0100265	Synostosis of metacarpals/metatarsals	9241	NOG	OMIM:185800
HP:0100265	Synostosis of metacarpals/metatarsals	8200	GDF5	ORPHA:3250
HP:0100265	Synostosis of metacarpals/metatarsals	10084	PQBP1	OMIM:309500
HP:0100265	Synostosis of metacarpals/metatarsals	4841	NONO	OMIM:300967
HP:0100265	Synostosis of metacarpals/metatarsals	727857	BHLHA9	ORPHA:157801
HP:0100265	Synostosis of metacarpals/metatarsals	4038	LRP4	OMIM:212780
HP:0100265	Synostosis of metacarpals/metatarsals	7291	TWIST1	ORPHA:35099
HP:0100265	Synostosis of metacarpals/metatarsals	2261	FGFR3	ORPHA:35099
HP:0100265	Synostosis of metacarpals/metatarsals	6938	TCF12	ORPHA:35099
HP:0100265	Synostosis of metacarpals/metatarsals	7545	ZIC1	ORPHA:35099
HP:0100265	Synostosis of metacarpals/metatarsals	51776	MAP3K20	ORPHA:488232
HP:0100268	Upper lip pit	7020	TFAP2A	ORPHA:1297
HP:0100269	Paramedian lip pit	3664	IRF6	OMIM:119300
HP:0100269	Paramedian lip pit	3664	IRF6	ORPHA:888
HP:0100269	Paramedian lip pit	3664	IRF6	OMIM:119500
HP:0100269	Paramedian lip pit	7403	KDM6A	OMIM:300867
HP:0100269	Paramedian lip pit	57822	GRHL3	ORPHA:888
HP:0100269	Paramedian lip pit	7020	TFAP2A	ORPHA:1297
HP:0005281	Hypoplastic nasal bridge	1718	DHCR24	OMIM:602398
HP:0005281	Hypoplastic nasal bridge	9321	TRIP11	OMIM:200600
HP:0005281	Hypoplastic nasal bridge	3845	KRAS	OMIM:609942
HP:0005281	Hypoplastic nasal bridge	2690	GHR	ORPHA:633
HP:0031171	Femoral spur	5130	PCYT1A	ORPHA:85167
HP:0031174	Double-layered patella	1836	SLC26A2	ORPHA:93307
HP:0031174	Double-layered patella	1836	SLC26A2	OMIM:226900
HP:0031174	Double-layered patella	1280	COL2A1	ORPHA:166011
HP:0031177	Finger flexor weakness	2318	FLNC	ORPHA:63273
HP:0031177	Finger flexor weakness	8291	DYSF	ORPHA:178400
HP:0031179	Nuchal rigidity	3661	IRF3	OMIM:616532
HP:0031179	Nuchal rigidity	773	CACNA1A	ORPHA:569
HP:0031179	Nuchal rigidity	112476	PRRT2	ORPHA:569
HP:0031179	Nuchal rigidity	6323	SCN1A	ORPHA:569
HP:0031179	Nuchal rigidity	477	ATP1A2	ORPHA:569
HP:0031179	Nuchal rigidity	7187	TRAF3	ORPHA:1930
HP:0031179	Nuchal rigidity	81622	UNC93B1	ORPHA:1930
HP:0031179	Nuchal rigidity	148022	TICAM1	ORPHA:1930
HP:0031179	Nuchal rigidity	7098	TLR3	ORPHA:1930
HP:0031179	Nuchal rigidity	29110	TBK1	ORPHA:1930
HP:0100273	Neoplasm of the colon	4436	MSH2	OMIM:158320
HP:0100273	Neoplasm of the colon	4436	MSH2	OMIM:619096
HP:0100273	Neoplasm of the colon	4436	MSH2	OMIM:120435
HP:0100273	Neoplasm of the colon	4436	MSH2	ORPHA:144
HP:0100273	Neoplasm of the colon	4436	MSH2	ORPHA:587
HP:0100273	Neoplasm of the colon	2956	MSH6	OMIM:619097
HP:0100273	Neoplasm of the colon	2956	MSH6	ORPHA:144
HP:0100273	Neoplasm of the colon	2956	MSH6	ORPHA:587
HP:0100273	Neoplasm of the colon	30011	SH3KBP1	OMIM:300310
HP:0100273	Neoplasm of the colon	716	C1S	OMIM:617174
HP:0100273	Neoplasm of the colon	7157	TP53	OMIM:151623
HP:0100273	Neoplasm of the colon	7157	TP53	ORPHA:524
HP:0100273	Neoplasm of the colon	7157	TP53	ORPHA:1333
HP:0100273	Neoplasm of the colon	5378	PMS1	OMIM:120435
HP:0100273	Neoplasm of the colon	5378	PMS1	ORPHA:144
HP:0100273	Neoplasm of the colon	4092	SMAD7	OMIM:612229
HP:0100273	Neoplasm of the colon	6223	RPS19	OMIM:105650
HP:0100273	Neoplasm of the colon	1029	CDKN2A	ORPHA:524
HP:0100273	Neoplasm of the colon	1029	CDKN2A	ORPHA:1333
HP:0100273	Neoplasm of the colon	4193	MDM2	ORPHA:524
HP:0100273	Neoplasm of the colon	11200	CHEK2	ORPHA:524
HP:0100273	Neoplasm of the colon	27030	MLH3	ORPHA:144
HP:0100273	Neoplasm of the colon	22909	FAN1	ORPHA:144
HP:0100273	Neoplasm of the colon	7048	TGFBR2	ORPHA:144
HP:0100273	Neoplasm of the colon	3845	KRAS	ORPHA:144
HP:0100273	Neoplasm of the colon	3845	KRAS	ORPHA:1333
HP:0100273	Neoplasm of the colon	5290	PIK3CA	ORPHA:144
HP:0100273	Neoplasm of the colon	201163	FLCN	OMIM:135150
HP:0100273	Neoplasm of the colon	9184	BUB3	ORPHA:1052
HP:0100273	Neoplasm of the colon	699	BUB1	ORPHA:1052
HP:0100273	Neoplasm of the colon	9702	CEP57	ORPHA:1052
HP:0100273	Neoplasm of the colon	9319	TRIP13	ORPHA:1052
HP:0100273	Neoplasm of the colon	701	BUB1B	ORPHA:1052
HP:0100273	Neoplasm of the colon	672	BRCA1	ORPHA:1333
HP:0100273	Neoplasm of the colon	285282	RABL3	ORPHA:1333
HP:0100273	Neoplasm of the colon	675	BRCA2	ORPHA:1333
HP:0100273	Neoplasm of the colon	79728	PALB2	ORPHA:1333
HP:0100273	Neoplasm of the colon	23022	PALLD	ORPHA:1333
HP:0100273	Neoplasm of the colon	2304	FOXE1	ORPHA:319487
HP:0100273	Neoplasm of the colon	3026	HABP2	ORPHA:319487
HP:0100273	Neoplasm of the colon	9562	MINPP1	ORPHA:319487
HP:0100273	Neoplasm of the colon	8313	AXIN2	ORPHA:401911
HP:0100273	Neoplasm of the colon	8313	AXIN2	OMIM:608615
HP:0100273	Neoplasm of the colon	324	APC	ORPHA:261584
HP:0100273	Neoplasm of the colon	324	APC	ORPHA:99818
HP:0100273	Neoplasm of the colon	324	APC	OMIM:175100
HP:0100273	Neoplasm of the colon	324	APC	ORPHA:247806
HP:0100273	Neoplasm of the colon	324	APC	ORPHA:79665
HP:0100273	Neoplasm of the colon	54894	RNF43	ORPHA:157798
HP:0100273	Neoplasm of the colon	26585	GREM1	ORPHA:157794
HP:0100273	Neoplasm of the colon	657	BMPR1A	ORPHA:157794
HP:0100273	Neoplasm of the colon	657	BMPR1A	ORPHA:329971
HP:0100273	Neoplasm of the colon	657	BMPR1A	OMIM:610069
HP:0100273	Neoplasm of the colon	657	BMPR1A	ORPHA:79076
HP:0100273	Neoplasm of the colon	4913	NTHL1	ORPHA:454840
HP:0100273	Neoplasm of the colon	4913	NTHL1	OMIM:616415
HP:0100273	Neoplasm of the colon	4089	SMAD4	ORPHA:329971
HP:0100273	Neoplasm of the colon	2022	ENG	ORPHA:329971
HP:0100273	Neoplasm of the colon	8930	MBD4	OMIM:619975
HP:0100273	Neoplasm of the colon	4595	MUTYH	OMIM:608456
HP:0100273	Neoplasm of the colon	4595	MUTYH	ORPHA:247798
HP:0100273	Neoplasm of the colon	5426	POLE	ORPHA:447877
HP:0100273	Neoplasm of the colon	5424	POLD1	ORPHA:447877
HP:0100273	Neoplasm of the colon	4292	MLH1	OMIM:276300
HP:0100273	Neoplasm of the colon	5395	PMS2	OMIM:619101
HP:0100273	Neoplasm of the colon	4437	MSH3	OMIM:617100
HP:0100273	Neoplasm of the colon	4437	MSH3	ORPHA:480536
HP:0100273	Neoplasm of the colon	4072	EPCAM	OMIM:613244
HP:0100273	Neoplasm of the colon	5728	PTEN	ORPHA:79076
HP:0100273	Neoplasm of the colon	6135	RPL11	ORPHA:124
HP:0100273	Neoplasm of the colon	6138	RPL15	ORPHA:124
HP:0100273	Neoplasm of the colon	6229	RPS24	ORPHA:124
HP:0100273	Neoplasm of the colon	6125	RPL5	ORPHA:124
HP:0100273	Neoplasm of the colon	6204	RPS10	ORPHA:124
HP:0100273	Neoplasm of the colon	6224	RPS20	ORPHA:124
HP:0100273	Neoplasm of the colon	6165	RPL35A	ORPHA:124
HP:0100273	Neoplasm of the colon	2623	GATA1	ORPHA:124
HP:0100273	Neoplasm of the colon	6232	RPS27	ORPHA:124
HP:0100273	Neoplasm of the colon	6231	RPS26	ORPHA:124
HP:0100273	Neoplasm of the colon	11224	RPL35	ORPHA:124
HP:0100273	Neoplasm of the colon	6160	RPL31	ORPHA:124
HP:0100273	Neoplasm of the colon	6218	RPS17	ORPHA:124
HP:0100273	Neoplasm of the colon	6201	RPS7	ORPHA:124
HP:0100273	Neoplasm of the colon	6155	RPL27	ORPHA:124
HP:0100273	Neoplasm of the colon	6154	RPL26	ORPHA:124
HP:0100273	Neoplasm of the colon	6210	RPS15A	ORPHA:124
HP:0100273	Neoplasm of the colon	90121	TSR2	ORPHA:124
HP:0100273	Neoplasm of the colon	6141	RPL18	ORPHA:124
HP:0100273	Neoplasm of the colon	6235	RPS29	ORPHA:124
HP:0100273	Neoplasm of the colon	6234	RPS28	ORPHA:124
HP:0100273	Neoplasm of the colon	51816	ADA2	ORPHA:124
HP:0100273	Neoplasm of the colon	7373	COL14A1	ORPHA:79501
HP:0100273	Neoplasm of the colon	79719	AAGAB	ORPHA:79501
HP:0100273	Neoplasm of the colon	64218	SEMA4A	ORPHA:440437
HP:0100273	Neoplasm of the colon	641	BLM	ORPHA:125
HP:0100273	Neoplasm of the colon	6794	STK11	ORPHA:2869
HP:0100273	Neoplasm of the colon	6389	SDHA	ORPHA:44890
HP:0100273	Neoplasm of the colon	6390	SDHB	ORPHA:44890
HP:0100273	Neoplasm of the colon	6391	SDHC	ORPHA:44890
HP:0100273	Neoplasm of the colon	5156	PDGFRA	ORPHA:44890
HP:0100273	Neoplasm of the colon	3815	KIT	ORPHA:44890
HP:0100274	Gustatory lacrimation	2138	EYA1	OMIM:113650
HP:0100274	Gustatory lacrimation	6495	SIX1	OMIM:113650
HP:0100271	Hyponasal speech	1748	DLX4	OMIM:616788
HP:0100271	Hyponasal speech	23102	TBC1D2B	ORPHA:397973
HP:0100277	Periauricular skin pits	6850	SYK	OMIM:619381
HP:0100277	Periauricular skin pits	8294	H4C9	OMIM:619951
HP:0100277	Periauricular skin pits	2138	EYA1	OMIM:113650
HP:0100277	Periauricular skin pits	2138	EYA1	OMIM:602588
HP:0100277	Periauricular skin pits	2138	EYA1	ORPHA:52429
HP:0100277	Periauricular skin pits	2138	EYA1	ORPHA:2792
HP:0100277	Periauricular skin pits	2138	EYA1	OMIM:166780
HP:0100277	Periauricular skin pits	6495	SIX1	OMIM:113650
HP:0100277	Periauricular skin pits	6495	SIX1	ORPHA:52429
HP:0100277	Periauricular skin pits	6495	SIX1	OMIM:605192
HP:0100277	Periauricular skin pits	6495	SIX1	OMIM:608389
HP:0100277	Periauricular skin pits	145173	B3GLCT	OMIM:261540
HP:0100277	Periauricular skin pits	145173	B3GLCT	ORPHA:709
HP:0100277	Periauricular skin pits	1909	EDNRA	OMIM:616367
HP:0100277	Periauricular skin pits	3098	HK1	OMIM:618547
HP:0100277	Periauricular skin pits	80036	TRPM3	OMIM:620224
HP:0100277	Periauricular skin pits	286	ANK1	ORPHA:251066
HP:0100277	Periauricular skin pits	8085	KMT2D	OMIM:620186
HP:0100277	Periauricular skin pits	8085	KMT2D	OMIM:147920
HP:0100277	Periauricular skin pits	145258	GSC	OMIM:602471
HP:0100277	Periauricular skin pits	2702	GJA5	ORPHA:3303
HP:0100277	Periauricular skin pits	1482	NKX2-5	ORPHA:3303
HP:0100277	Periauricular skin pits	1482	NKX2-5	OMIM:187500
HP:0100277	Periauricular skin pits	137814	NKX2-6	ORPHA:3303
HP:0100277	Periauricular skin pits	23414	ZFPM2	ORPHA:3303
HP:0100277	Periauricular skin pits	23414	ZFPM2	OMIM:187500
HP:0100277	Periauricular skin pits	2626	GATA4	ORPHA:3303
HP:0100277	Periauricular skin pits	2626	GATA4	OMIM:187500
HP:0100277	Periauricular skin pits	3791	KDR	ORPHA:3303
HP:0100277	Periauricular skin pits	2627	GATA6	ORPHA:3303
HP:0100277	Periauricular skin pits	2627	GATA6	OMIM:187500
HP:0100277	Periauricular skin pits	2657	GDF1	ORPHA:3303
HP:0100277	Periauricular skin pits	182	JAG1	ORPHA:3303
HP:0100277	Periauricular skin pits	182	JAG1	OMIM:187500
HP:0100277	Periauricular skin pits	6899	TBX1	ORPHA:3303
HP:0100277	Periauricular skin pits	6899	TBX1	OMIM:187500
HP:0100277	Periauricular skin pits	140628	GATA5	ORPHA:3303
HP:0100277	Periauricular skin pits	2324	FLT4	ORPHA:3303
HP:0100277	Periauricular skin pits	10370	CITED2	ORPHA:3303
HP:0100277	Periauricular skin pits	3190	HNRNPK	ORPHA:453504
HP:0100277	Periauricular skin pits	3190	HNRNPK	ORPHA:352665
HP:0100277	Periauricular skin pits	23405	DICER1	OMIM:618272
HP:0100277	Periauricular skin pits	6299	SALL1	OMIM:107480
HP:0100277	Periauricular skin pits	51715	RAB23	OMIM:201000
HP:0100277	Periauricular skin pits	27031	NPHP3	OMIM:208540
HP:0100277	Periauricular skin pits	5075	PAX1	OMIM:615560
HP:0100277	Periauricular skin pits	5075	PAX1	ORPHA:2792
HP:0100277	Periauricular skin pits	2263	FGFR2	OMIM:123790
HP:0100277	Periauricular skin pits	5500	PPP1CB	OMIM:617506
HP:0100277	Periauricular skin pits	4286	MITF	OMIM:617306
HP:0100277	Periauricular skin pits	23384	SPECC1L	ORPHA:1519
HP:0100277	Periauricular skin pits	23384	SPECC1L	OMIM:145420
HP:0100277	Periauricular skin pits	9968	MED12	OMIM:301068
HP:0100277	Periauricular skin pits	10735	STAG2	OMIM:301022
HP:0100277	Periauricular skin pits	2316	FLNA	ORPHA:88630
HP:0100277	Periauricular skin pits	7994	KAT6A	ORPHA:457193
HP:0100277	Periauricular skin pits	3759	KCNJ2	OMIM:170390
HP:0100277	Periauricular skin pits	51082	POLR1D	OMIM:613717
HP:0100277	Periauricular skin pits	9451	EIF2AK3	OMIM:226980
HP:0100277	Periauricular skin pits	4281	MID1	ORPHA:2745
HP:0100277	Periauricular skin pits	51729	WBP11	OMIM:619227
HP:0100277	Periauricular skin pits	7319	UBE2A	ORPHA:163956
HP:0100277	Periauricular skin pits	2719	GPC3	OMIM:312870
HP:0100277	Periauricular skin pits	2239	GPC4	OMIM:312870
HP:0100277	Periauricular skin pits	64132	XYLT2	ORPHA:85194
HP:0100277	Periauricular skin pits	53834	FGFRL1	OMIM:194190
HP:0100277	Periauricular skin pits	1487	CTBP1	OMIM:194190
HP:0100277	Periauricular skin pits	3954	LETM1	OMIM:194190
HP:0100277	Periauricular skin pits	7468	NSD2	OMIM:194190
HP:0100277	Periauricular skin pits	10815	CPLX1	OMIM:194190
HP:0100277	Periauricular skin pits	58499	ZNF462	OMIM:618619
HP:0100277	Periauricular skin pits	7403	KDM6A	OMIM:147920
HP:0100277	Periauricular skin pits	7020	TFAP2A	OMIM:113620
HP:0100277	Periauricular skin pits	7020	TFAP2A	ORPHA:1297
HP:0100277	Periauricular skin pits	1906	EDN1	ORPHA:137888
HP:0100277	Periauricular skin pits	5332	PLCB4	ORPHA:137888
HP:0100277	Periauricular skin pits	2773	GNAI3	ORPHA:137888
HP:0100277	Periauricular skin pits	4035	LRP1	ORPHA:79100
HP:0100277	Periauricular skin pits	26053	AUTS2	ORPHA:352490
HP:0000384	Preauricular skin tag	10262	SF3B4	OMIM:154400
HP:0000384	Preauricular skin tag	8367	H4C5	OMIM:619950
HP:0000384	Preauricular skin tag	8294	H4C9	OMIM:619951
HP:0000384	Preauricular skin tag	2138	EYA1	OMIM:113650
HP:0000384	Preauricular skin tag	2138	EYA1	ORPHA:107
HP:0000384	Preauricular skin tag	2138	EYA1	ORPHA:52429
HP:0000384	Preauricular skin tag	6495	SIX1	OMIM:113650
HP:0000384	Preauricular skin tag	6495	SIX1	ORPHA:107
HP:0000384	Preauricular skin tag	6495	SIX1	ORPHA:52429
HP:0000384	Preauricular skin tag	6495	SIX1	OMIM:608389
HP:0000384	Preauricular skin tag	2132	EXT2	OMIM:616682
HP:0000384	Preauricular skin tag	2335	FN1	ORPHA:93315
HP:0000384	Preauricular skin tag	1280	COL2A1	ORPHA:93315
HP:0000384	Preauricular skin tag	2972	BRF1	OMIM:616202
HP:0000384	Preauricular skin tag	145173	B3GLCT	ORPHA:709
HP:0000384	Preauricular skin tag	10992	SF3B2	OMIM:164210
HP:0000384	Preauricular skin tag	6299	SALL1	OMIM:107480
HP:0000384	Preauricular skin tag	6299	SALL1	ORPHA:857
HP:0000384	Preauricular skin tag	374654	KIF7	OMIM:200990
HP:0000384	Preauricular skin tag	89910	UBE3B	OMIM:244450
HP:0000384	Preauricular skin tag	89910	UBE3B	ORPHA:2707
HP:0000384	Preauricular skin tag	8085	KMT2D	ORPHA:2322
HP:0000384	Preauricular skin tag	7403	KDM6A	ORPHA:2322
HP:0000384	Preauricular skin tag	4953	ODC1	ORPHA:544488
HP:0000384	Preauricular skin tag	55636	CHD7	ORPHA:138
HP:0000384	Preauricular skin tag	9723	SEMA3E	ORPHA:138
HP:0000384	Preauricular skin tag	10735	STAG2	OMIM:301022
HP:0000384	Preauricular skin tag	57492	ARID1B	OMIM:135900
HP:0000384	Preauricular skin tag	54496	PRMT7	OMIM:617157
HP:0000384	Preauricular skin tag	54496	PRMT7	ORPHA:464288
HP:0000384	Preauricular skin tag	10265	IRX5	OMIM:611174
HP:0000384	Preauricular skin tag	2260	FGFR1	OMIM:190440
HP:0000384	Preauricular skin tag	23389	MED13L	ORPHA:369891
HP:0000384	Preauricular skin tag	8260	NAA10	ORPHA:568
HP:0000384	Preauricular skin tag	54880	BCOR	ORPHA:568
HP:0000384	Preauricular skin tag	10943	MSL3	OMIM:301032
HP:0000384	Preauricular skin tag	1501	CTNND2	ORPHA:281
HP:0000384	Preauricular skin tag	9037	SEMA5A	ORPHA:281
HP:0000384	Preauricular skin tag	4041	LRP5	ORPHA:2788
HP:0000384	Preauricular skin tag	51729	WBP11	OMIM:619227
HP:0000384	Preauricular skin tag	147912	SIX5	OMIM:610896
HP:0000384	Preauricular skin tag	147912	SIX5	ORPHA:107
HP:0000384	Preauricular skin tag	1906	EDN1	ORPHA:137888
HP:0000384	Preauricular skin tag	5332	PLCB4	ORPHA:137888
HP:0000384	Preauricular skin tag	2773	GNAI3	ORPHA:137888
HP:0000384	Preauricular skin tag	2773	GNAI3	OMIM:602483
HP:0000384	Preauricular skin tag	6638	SNRPN	ORPHA:177907
HP:0000384	Preauricular skin tag	53834	FGFRL1	OMIM:194190
HP:0000384	Preauricular skin tag	1487	CTBP1	OMIM:194190
HP:0000384	Preauricular skin tag	3954	LETM1	OMIM:194190
HP:0000384	Preauricular skin tag	7468	NSD2	OMIM:194190
HP:0000384	Preauricular skin tag	10815	CPLX1	OMIM:194190
HP:0000384	Preauricular skin tag	9343	EFTUD2	OMIM:610536
HP:0000384	Preauricular skin tag	9343	EFTUD2	ORPHA:79113
HP:0000384	Preauricular skin tag	57167	SALL4	ORPHA:233
HP:0000384	Preauricular skin tag	9935	MAFB	ORPHA:233
HP:0000384	Preauricular skin tag	1123	CHN1	ORPHA:233
HP:0000384	Preauricular skin tag	3192	HNRNPU	ORPHA:238769
HP:0000384	Preauricular skin tag	157680	VPS13B	ORPHA:193
HP:0000384	Preauricular skin tag	8092	ALX1	ORPHA:306542
HP:0000384	Preauricular skin tag	94005	PIGS	OMIM:618143
HP:0000384	Preauricular skin tag	1909	EDNRA	OMIM:616367
HP:0000384	Preauricular skin tag	8364	H4C3	OMIM:619758
HP:0000384	Preauricular skin tag	10907	TXNL4A	OMIM:608572
HP:0000384	Preauricular skin tag	79759	ZNF668	OMIM:620194
HP:0000384	Preauricular skin tag	84172	POLR1B	ORPHA:861
HP:0000384	Preauricular skin tag	9533	POLR1C	ORPHA:861
HP:0000384	Preauricular skin tag	51082	POLR1D	ORPHA:861
HP:0000384	Preauricular skin tag	6949	TCOF1	ORPHA:861
HP:0000384	Preauricular skin tag	6949	TCOF1	OMIM:154500
HP:0000384	Preauricular skin tag	55617	TASP1	OMIM:618950
HP:0000384	Preauricular skin tag	29123	ANKRD11	ORPHA:261250
HP:0000384	Preauricular skin tag	79971	WLS	OMIM:619648
HP:0000384	Preauricular skin tag	51339	DACT1	ORPHA:857
HP:0000384	Preauricular skin tag	54916	TMEM260	OMIM:617478
HP:0000384	Preauricular skin tag	374969	SVBP	OMIM:618569
HP:0000384	Preauricular skin tag	2317	FLNB	OMIM:272460
HP:0000384	Preauricular skin tag	9897	WASHC5	ORPHA:7
HP:0000384	Preauricular skin tag	28952	CCDC22	ORPHA:7
HP:0000384	Preauricular skin tag	257	ALX3	OMIM:136760
HP:0000384	Preauricular skin tag	257	ALX3	ORPHA:391474
HP:0000384	Preauricular skin tag	6595	SMARCA2	OMIM:601358
HP:0000384	Preauricular skin tag	3845	KRAS	OMIM:600268
HP:0000384	Preauricular skin tag	2719	GPC3	OMIM:312870
HP:0000384	Preauricular skin tag	2239	GPC4	OMIM:312870
HP:0100276	Skin pit	3664	IRF6	OMIM:119300
HP:0100276	Skin pit	3664	IRF6	ORPHA:888
HP:0100276	Skin pit	3664	IRF6	OMIM:119500
HP:0100276	Skin pit	57822	GRHL3	ORPHA:888
HP:0100276	Skin pit	54101	RIPK4	ORPHA:1401
HP:0100276	Skin pit	54101	RIPK4	OMIM:214350
HP:0100276	Skin pit	6850	SYK	OMIM:619381
HP:0100276	Skin pit	8294	H4C9	OMIM:619951
HP:0100276	Skin pit	2138	EYA1	OMIM:113650
HP:0100276	Skin pit	2138	EYA1	OMIM:602588
HP:0100276	Skin pit	2138	EYA1	ORPHA:52429
HP:0100276	Skin pit	2138	EYA1	ORPHA:2792
HP:0100276	Skin pit	2138	EYA1	OMIM:166780
HP:0100276	Skin pit	6495	SIX1	OMIM:113650
HP:0100276	Skin pit	6495	SIX1	ORPHA:52429
HP:0100276	Skin pit	6495	SIX1	OMIM:605192
HP:0100276	Skin pit	6495	SIX1	OMIM:608389
HP:0100276	Skin pit	145173	B3GLCT	OMIM:261540
HP:0100276	Skin pit	145173	B3GLCT	ORPHA:709
HP:0100276	Skin pit	1909	EDNRA	OMIM:616367
HP:0100276	Skin pit	3098	HK1	OMIM:618547
HP:0100276	Skin pit	80036	TRPM3	OMIM:620224
HP:0100276	Skin pit	286	ANK1	ORPHA:251066
HP:0100276	Skin pit	8085	KMT2D	OMIM:620186
HP:0100276	Skin pit	8085	KMT2D	OMIM:147920
HP:0100276	Skin pit	145258	GSC	OMIM:602471
HP:0100276	Skin pit	2702	GJA5	ORPHA:3303
HP:0100276	Skin pit	1482	NKX2-5	ORPHA:3303
HP:0100276	Skin pit	1482	NKX2-5	OMIM:187500
HP:0100276	Skin pit	137814	NKX2-6	ORPHA:3303
HP:0100276	Skin pit	23414	ZFPM2	ORPHA:3303
HP:0100276	Skin pit	23414	ZFPM2	OMIM:187500
HP:0100276	Skin pit	2626	GATA4	ORPHA:3303
HP:0100276	Skin pit	2626	GATA4	OMIM:187500
HP:0100276	Skin pit	3791	KDR	ORPHA:3303
HP:0100276	Skin pit	2627	GATA6	ORPHA:3303
HP:0100276	Skin pit	2627	GATA6	OMIM:187500
HP:0100276	Skin pit	2657	GDF1	ORPHA:3303
HP:0100276	Skin pit	182	JAG1	ORPHA:3303
HP:0100276	Skin pit	182	JAG1	OMIM:187500
HP:0100276	Skin pit	6899	TBX1	ORPHA:3303
HP:0100276	Skin pit	6899	TBX1	OMIM:187500
HP:0100276	Skin pit	140628	GATA5	ORPHA:3303
HP:0100276	Skin pit	2324	FLT4	ORPHA:3303
HP:0100276	Skin pit	10370	CITED2	ORPHA:3303
HP:0100276	Skin pit	3190	HNRNPK	ORPHA:453504
HP:0100276	Skin pit	3190	HNRNPK	ORPHA:352665
HP:0100276	Skin pit	23405	DICER1	OMIM:618272
HP:0100276	Skin pit	6299	SALL1	OMIM:107480
HP:0100276	Skin pit	51715	RAB23	OMIM:201000
HP:0100276	Skin pit	27031	NPHP3	OMIM:208540
HP:0100276	Skin pit	5075	PAX1	OMIM:615560
HP:0100276	Skin pit	5075	PAX1	ORPHA:2792
HP:0100276	Skin pit	2263	FGFR2	OMIM:123790
HP:0100276	Skin pit	5500	PPP1CB	OMIM:617506
HP:0100276	Skin pit	4286	MITF	OMIM:617306
HP:0100276	Skin pit	23384	SPECC1L	ORPHA:1519
HP:0100276	Skin pit	23384	SPECC1L	OMIM:145420
HP:0100276	Skin pit	9968	MED12	OMIM:301068
HP:0100276	Skin pit	10735	STAG2	OMIM:301022
HP:0100276	Skin pit	2316	FLNA	ORPHA:88630
HP:0100276	Skin pit	7994	KAT6A	ORPHA:457193
HP:0100276	Skin pit	3759	KCNJ2	OMIM:170390
HP:0100276	Skin pit	51082	POLR1D	OMIM:613717
HP:0100276	Skin pit	9451	EIF2AK3	OMIM:226980
HP:0100276	Skin pit	4281	MID1	ORPHA:2745
HP:0100276	Skin pit	51729	WBP11	OMIM:619227
HP:0100276	Skin pit	7319	UBE2A	ORPHA:163956
HP:0100276	Skin pit	2719	GPC3	OMIM:312870
HP:0100276	Skin pit	2239	GPC4	OMIM:312870
HP:0100276	Skin pit	64132	XYLT2	ORPHA:85194
HP:0100276	Skin pit	53834	FGFRL1	OMIM:194190
HP:0100276	Skin pit	1487	CTBP1	OMIM:194190
HP:0100276	Skin pit	3954	LETM1	OMIM:194190
HP:0100276	Skin pit	7468	NSD2	OMIM:194190
HP:0100276	Skin pit	10815	CPLX1	OMIM:194190
HP:0100276	Skin pit	58499	ZNF462	OMIM:618619
HP:0100276	Skin pit	7403	KDM6A	OMIM:147920
HP:0100276	Skin pit	7020	TFAP2A	OMIM:113620
HP:0100276	Skin pit	7020	TFAP2A	ORPHA:1297
HP:0100276	Skin pit	5727	PTCH1	ORPHA:77301
HP:0100276	Skin pit	5727	PTCH1	ORPHA:377
HP:0100276	Skin pit	5727	PTCH1	OMIM:109400
HP:0100276	Skin pit	8643	PTCH2	ORPHA:377
HP:0100276	Skin pit	51684	SUFU	ORPHA:377
HP:0100276	Skin pit	10519	CIB1	OMIM:618267
HP:0100276	Skin pit	56983	POGLUT1	ORPHA:79145
HP:0100276	Skin pit	3852	KRT5	ORPHA:79145
HP:0100276	Skin pit	23509	POFUT1	ORPHA:79145
HP:0100276	Skin pit	55851	PSENEN	ORPHA:79145
HP:0100276	Skin pit	488	ATP2A2	OMIM:124200
HP:0100276	Skin pit	4487	MSX1	ORPHA:141291
HP:0100276	Skin pit	5818	NECTIN1	ORPHA:141291
HP:0100276	Skin pit	8626	TP63	ORPHA:141291
HP:0100276	Skin pit	8626	TP63	ORPHA:1072
HP:0100276	Skin pit	8481	OFD1	ORPHA:2750
HP:0100276	Skin pit	6608	SMO	OMIM:601707
HP:0100276	Skin pit	1906	EDN1	ORPHA:137888
HP:0100276	Skin pit	5332	PLCB4	ORPHA:137888
HP:0100276	Skin pit	2773	GNAI3	ORPHA:137888
HP:0100276	Skin pit	4035	LRP1	ORPHA:79100
HP:0100276	Skin pit	26053	AUTS2	ORPHA:352490
HP:0100279	Ulcerative colitis	7454	WAS	OMIM:301000
HP:0100279	Ulcerative colitis	2859	GPR35	ORPHA:171
HP:0100279	Ulcerative colitis	10507	SEMA4D	ORPHA:171
HP:0100279	Ulcerative colitis	4485	MST1	ORPHA:171
HP:0100279	Ulcerative colitis	6925	TCF4	ORPHA:171
HP:0100279	Ulcerative colitis	60468	BACH2	OMIM:618394
HP:0100279	Ulcerative colitis	64127	NOD2	OMIM:266600
HP:0100279	Ulcerative colitis	3569	IL6	OMIM:266600
HP:0100279	Ulcerative colitis	55765	INAVA	OMIM:618077
HP:0100279	Ulcerative colitis	10747	MASP2	OMIM:613791
HP:0100279	Ulcerative colitis	27178	IL37	OMIM:619398
HP:0100279	Ulcerative colitis	79415	CYBC1	OMIM:618935
HP:0100279	Ulcerative colitis	6885	MAP3K7	OMIM:617137
HP:0100279	Ulcerative colitis	84433	CARD11	OMIM:617638
HP:0100279	Ulcerative colitis	5336	PLCG2	OMIM:614878
HP:0100279	Ulcerative colitis	2542	SLC37A4	ORPHA:79259
HP:0031180	Erythema migrans	3852	KRT5	ORPHA:158681
HP:0031180	Erythema migrans	3852	KRT5	OMIM:609352
HP:0031181	Necrolytic migratory erythema	2642	GCGR	ORPHA:438274
HP:0031185	Increased circulating NT-proBNP concentration	7276	TTR	ORPHA:85451
HP:0031185	Increased circulating NT-proBNP concentration	2548	GAA	OMIM:232300
HP:0031187	Abnormal circulating pregnenolone concentration	5447	POR	ORPHA:95699
HP:0031187	Abnormal circulating pregnenolone concentration	3284	HSD3B2	OMIM:201810
HP:0031188	Genital edema	9780	PIEZO1	OMIM:616843
HP:0031189	Wrist drop	22880	MORC2	OMIM:616688
HP:0031189	Wrist drop	58	ACTA1	OMIM:616852
HP:0031189	Wrist drop	57863	CADM3	OMIM:619519
HP:0031189	Wrist drop	4771	NF2	ORPHA:637
HP:0031189	Wrist drop	11155	LDB3	ORPHA:98912
HP:0031189	Wrist drop	5351	PLOD1	ORPHA:1900
HP:0031189	Wrist drop	65055	REEP1	OMIM:620011
HP:0100280	Crohn's disease	6850	SYK	OMIM:619381
HP:0100280	Crohn's disease	4210	MEFV	OMIM:249100
HP:0100280	Crohn's disease	5297	PI4KA	OMIM:619621
HP:0100280	Crohn's disease	29775	CARD10	OMIM:619632
HP:0100280	Crohn's disease	60468	BACH2	OMIM:618394
HP:0100280	Crohn's disease	64127	NOD2	OMIM:266600
HP:0100280	Crohn's disease	3569	IL6	OMIM:266600
HP:0100280	Crohn's disease	55765	INAVA	OMIM:618077
HP:0100280	Crohn's disease	1493	CTLA4	OMIM:616100
HP:0100280	Crohn's disease	9051	PSTPIP1	ORPHA:69126
HP:0100280	Crohn's disease	79415	CYBC1	OMIM:618935
HP:0100280	Crohn's disease	96459	FNIP1	OMIM:619705
HP:0100280	Crohn's disease	3587	IL10RA	OMIM:613148
HP:0100280	Crohn's disease	59067	IL21	OMIM:615767
HP:0100280	Crohn's disease	2984	GUCY2C	OMIM:614616
HP:0100281	Chronic colitis	7454	WAS	OMIM:301000
HP:0100281	Chronic colitis	2859	GPR35	ORPHA:171
HP:0100281	Chronic colitis	10507	SEMA4D	ORPHA:171
HP:0100281	Chronic colitis	4485	MST1	ORPHA:171
HP:0100281	Chronic colitis	6925	TCF4	ORPHA:171
HP:0100281	Chronic colitis	60468	BACH2	OMIM:618394
HP:0100281	Chronic colitis	64127	NOD2	OMIM:266600
HP:0100281	Chronic colitis	3569	IL6	OMIM:266600
HP:0100281	Chronic colitis	55765	INAVA	OMIM:618077
HP:0100281	Chronic colitis	10747	MASP2	OMIM:613791
HP:0100281	Chronic colitis	27178	IL37	OMIM:619398
HP:0100281	Chronic colitis	79415	CYBC1	OMIM:618935
HP:0100281	Chronic colitis	6885	MAP3K7	OMIM:617137
HP:0100281	Chronic colitis	84433	CARD11	OMIM:617638
HP:0100281	Chronic colitis	5336	PLCG2	OMIM:614878
HP:0100281	Chronic colitis	2542	SLC37A4	ORPHA:79259
HP:0100284	EMG: myotonic discharges	487	ATP2A1	OMIM:601003
HP:0100284	EMG: myotonic discharges	6445	SGCG	ORPHA:353
HP:0100284	EMG: myotonic discharges	1785	DNM2	OMIM:160150
HP:0100284	EMG: myotonic discharges	64419	MTMR14	OMIM:160150
HP:0100284	EMG: myotonic discharges	3339	HSPG2	OMIM:255800
HP:0100284	EMG: myotonic discharges	29967	LRP12	OMIM:164310
HP:0100284	EMG: myotonic discharges	10020	GNE	ORPHA:602
HP:0100284	EMG: myotonic discharges	6329	SCN4A	ORPHA:99734
HP:0100285	EMG: impaired neuromuscular transmission	274	BIN1	ORPHA:169186
HP:0100285	EMG: impaired neuromuscular transmission	10290	SPEG	ORPHA:169186
HP:0100285	EMG: impaired neuromuscular transmission	6261	RYR1	ORPHA:169186
HP:0100285	EMG: impaired neuromuscular transmission	7273	TTN	ORPHA:169186
HP:0100285	EMG: impaired neuromuscular transmission	2673	GFPT1	OMIM:608931
HP:0100285	EMG: impaired neuromuscular transmission	2673	GFPT1	OMIM:610542
HP:0100285	EMG: impaired neuromuscular transmission	2673	GFPT1	ORPHA:353327
HP:0100285	EMG: impaired neuromuscular transmission	1145	CHRNE	OMIM:608931
HP:0100285	EMG: impaired neuromuscular transmission	1145	CHRNE	OMIM:605809
HP:0100285	EMG: impaired neuromuscular transmission	1145	CHRNE	OMIM:616324
HP:0100285	EMG: impaired neuromuscular transmission	1145	CHRNE	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	199857	ALG14	OMIM:619036
HP:0100285	EMG: impaired neuromuscular transmission	199857	ALG14	OMIM:616227
HP:0100285	EMG: impaired neuromuscular transmission	199857	ALG14	ORPHA:353327
HP:0100285	EMG: impaired neuromuscular transmission	1144	CHRND	OMIM:616321
HP:0100285	EMG: impaired neuromuscular transmission	1144	CHRND	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	5913	RAPSN	OMIM:616326
HP:0100285	EMG: impaired neuromuscular transmission	5913	RAPSN	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	4038	LRP4	OMIM:616304
HP:0100285	EMG: impaired neuromuscular transmission	4038	LRP4	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	4593	MUSK	OMIM:616325
HP:0100285	EMG: impaired neuromuscular transmission	4593	MUSK	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	85365	ALG2	OMIM:616228
HP:0100285	EMG: impaired neuromuscular transmission	85365	ALG2	ORPHA:353327
HP:0100285	EMG: impaired neuromuscular transmission	1134	CHRNA1	OMIM:608930
HP:0100285	EMG: impaired neuromuscular transmission	1134	CHRNA1	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	29925	GMPPB	ORPHA:363623
HP:0100285	EMG: impaired neuromuscular transmission	29925	GMPPB	ORPHA:353327
HP:0100285	EMG: impaired neuromuscular transmission	6329	SCN4A	OMIM:614198
HP:0100285	EMG: impaired neuromuscular transmission	6329	SCN4A	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	1140	CHRNB1	OMIM:616314
HP:0100285	EMG: impaired neuromuscular transmission	1140	CHRNB1	OMIM:616313
HP:0100285	EMG: impaired neuromuscular transmission	1140	CHRNB1	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	1798	DPAGT1	OMIM:614750
HP:0100285	EMG: impaired neuromuscular transmission	1798	DPAGT1	ORPHA:353327
HP:0100285	EMG: impaired neuromuscular transmission	8292	COLQ	ORPHA:98915
HP:0100285	EMG: impaired neuromuscular transmission	8292	COLQ	OMIM:603034
HP:0100285	EMG: impaired neuromuscular transmission	3913	LAMB2	ORPHA:98915
HP:0100285	EMG: impaired neuromuscular transmission	4632	MYL1	OMIM:618414
HP:0100285	EMG: impaired neuromuscular transmission	221264	AK9	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	285489	DOK7	ORPHA:98913
HP:0100285	EMG: impaired neuromuscular transmission	100996717	NOTCH2NLC	OMIM:603472
HP:0100285	EMG: impaired neuromuscular transmission	60482	SLC5A7	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	4649	MYO9A	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	1305	COL13A1	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	1103	CHAT	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	6576	SLC25A1	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	6843	VAMP1	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	375790	AGRN	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	127833	SYT2	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	6572	SLC18A3	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	6616	SNAP25	ORPHA:98914
HP:0100285	EMG: impaired neuromuscular transmission	776	CACNA1D	ORPHA:369929
HP:0100285	EMG: impaired neuromuscular transmission	4976	OPA1	ORPHA:1215
HP:0100288	EMG: myokymic discharges	93627	TBCK	ORPHA:488632
HP:0100288	EMG: myokymic discharges	3094	HINT1	ORPHA:324442
HP:0100289	Abnormality of pattern reversal visual evoked potentials	4976	OPA1	OMIM:125250
HP:0100289	Abnormality of pattern reversal visual evoked potentials	4976	OPA1	OMIM:165500
HP:0100287	EMG: slow motor conduction	23312	DMXL2	ORPHA:453533
HP:0100287	EMG: slow motor conduction	10558	SPTLC1	ORPHA:36386
HP:0100287	EMG: slow motor conduction	25923	ATL3	ORPHA:36386
HP:0100287	EMG: slow motor conduction	9517	SPTLC2	ORPHA:36386
HP:0100287	EMG: slow motor conduction	51062	ATL1	ORPHA:36386
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	3939	LDHA	ORPHA:284426
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	57152	SLURP1	ORPHA:87503
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	54795	TRPM4	OMIM:618531
HP:0031192	Abnormal morphology of left ventricular trabeculae	10021	HCN4	OMIM:163800
HP:0031192	Abnormal morphology of left ventricular trabeculae	57534	MIB1	OMIM:615092
HP:0031192	Abnormal morphology of left ventricular trabeculae	1837	DTNA	OMIM:604169
HP:0031192	Abnormal morphology of left ventricular trabeculae	4841	NONO	OMIM:300967
HP:0031192	Abnormal morphology of left ventricular trabeculae	63976	PRDM16	OMIM:615373
HP:0031192	Abnormal morphology of left ventricular trabeculae	4607	MYBPC3	OMIM:615396
HP:0031192	Abnormal morphology of left ventricular trabeculae	6392	SDHD	OMIM:619167
HP:0031192	Abnormal morphology of left ventricular trabeculae	805	CALM2	OMIM:616249
HP:0031192	Abnormal morphology of left ventricular trabeculae	4285	MIPEP	OMIM:617228
HP:0031192	Abnormal morphology of left ventricular trabeculae	388753	COA6	OMIM:616501
HP:0031192	Abnormal morphology of left ventricular trabeculae	6331	SCN5A	ORPHA:1344
HP:0031192	Abnormal morphology of left ventricular trabeculae	4878	NPPA	ORPHA:1344
HP:0031192	Abnormal morphology of left ventricular trabeculae	6389	SDHA	OMIM:613642
HP:0031192	Abnormal morphology of left ventricular trabeculae	6389	SDHA	OMIM:252011
HP:0031192	Abnormal morphology of left ventricular trabeculae	70	ACTC1	OMIM:613424
HP:0031192	Abnormal morphology of left ventricular trabeculae	88	ACTN2	OMIM:612158
HP:0031192	Abnormal morphology of left ventricular trabeculae	4625	MYH7	OMIM:613426
HP:0031192	Abnormal morphology of left ventricular trabeculae	11155	LDB3	OMIM:601493
HP:0031192	Abnormal morphology of left ventricular trabeculae	7139	TNNT2	OMIM:601494
HP:0031192	Abnormal morphology of left ventricular trabeculae	57176	VARS2	OMIM:615917
HP:0031193	Abnormal morphology of right ventricular trabeculae	3728	JUP	OMIM:601214
HP:0100291	Abnormality of central somatosensory evoked potentials	1593	CYP27A1	OMIM:213700
HP:0100291	Abnormality of central somatosensory evoked potentials	7274	TTPA	OMIM:277460
HP:0100291	Abnormality of central somatosensory evoked potentials	215	ABCD1	ORPHA:139399
HP:0100292	Amyloidosis of peripheral nerves	5621	PRNP	ORPHA:282166
HP:0100292	Amyloidosis of peripheral nerves	567	B2M	ORPHA:314652
HP:0100290	Abnormality of peripheral somatosensory evoked potentials	22880	MORC2	ORPHA:466768
HP:0100295	Muscle fiber atrophy	87178	PNPT1	ORPHA:319514
HP:0100295	Muscle fiber atrophy	1134	CHRNA1	OMIM:601462
HP:0100295	Muscle fiber atrophy	1134	CHRNA1	OMIM:608930
HP:0100295	Muscle fiber atrophy	7555	CNBP	OMIM:602668
HP:0100295	Muscle fiber atrophy	2673	GFPT1	OMIM:608931
HP:0100295	Muscle fiber atrophy	1145	CHRNE	OMIM:608931
HP:0100295	Muscle fiber atrophy	1145	CHRNE	OMIM:605809
HP:0100295	Muscle fiber atrophy	199857	ALG14	OMIM:619036
HP:0100295	Muscle fiber atrophy	1103	CHAT	OMIM:254210
HP:0100295	Muscle fiber atrophy	8292	COLQ	ORPHA:98915
HP:0100295	Muscle fiber atrophy	8292	COLQ	OMIM:603034
HP:0100295	Muscle fiber atrophy	3913	LAMB2	ORPHA:98915
HP:0100295	Muscle fiber atrophy	844	CASQ1	ORPHA:2593
HP:0100295	Muscle fiber atrophy	84876	ORAI1	ORPHA:2593
HP:0100295	Muscle fiber atrophy	6786	STIM1	ORPHA:2593
HP:0100295	Muscle fiber atrophy	6786	STIM1	OMIM:160565
HP:0100295	Muscle fiber atrophy	23175	LPIN1	ORPHA:99845
HP:0100295	Muscle fiber atrophy	4512	MT-CO1	ORPHA:99845
HP:0100295	Muscle fiber atrophy	4514	MT-CO3	ORPHA:99845
HP:0100295	Muscle fiber atrophy	54938	SARS2	OMIM:613845
HP:0100295	Muscle fiber atrophy	57731	SPTBN4	OMIM:617519
HP:0100295	Muscle fiber atrophy	3190	HNRNPK	ORPHA:453504
HP:0100295	Muscle fiber atrophy	3190	HNRNPK	ORPHA:352665
HP:0100295	Muscle fiber atrophy	6261	RYR1	ORPHA:98905
HP:0100295	Muscle fiber atrophy	57190	SELENON	ORPHA:2020
HP:0100295	Muscle fiber atrophy	58	ACTA1	ORPHA:2020
HP:0100295	Muscle fiber atrophy	4633	MYL2	ORPHA:2020
HP:0100295	Muscle fiber atrophy	3679	ITGA7	ORPHA:2020
HP:0100295	Muscle fiber atrophy	7169	TPM2	ORPHA:2020
HP:0100295	Muscle fiber atrophy	9200	HACD1	ORPHA:2020
HP:0100295	Muscle fiber atrophy	7170	TPM3	ORPHA:2020
HP:0100295	Muscle fiber atrophy	51776	MAP3K20	ORPHA:2020
HP:0100295	Muscle fiber atrophy	4000	LMNA	ORPHA:98855
HP:0100295	Muscle fiber atrophy	4000	LMNA	ORPHA:98853
HP:0100295	Muscle fiber atrophy	2010	EMD	OMIM:310300
HP:0100295	Muscle fiber atrophy	2010	EMD	ORPHA:98863
HP:0100295	Muscle fiber atrophy	2273	FHL1	ORPHA:98863
HP:0100295	Muscle fiber atrophy	79188	TMEM43	ORPHA:98853
HP:0100295	Muscle fiber atrophy	23345	SYNE1	ORPHA:98853
HP:0100295	Muscle fiber atrophy	23224	SYNE2	ORPHA:98853
HP:0100295	Muscle fiber atrophy	226	ALDOA	ORPHA:57
HP:0100295	Muscle fiber atrophy	64135	IFIH1	OMIM:182250
HP:0100295	Muscle fiber atrophy	4625	MYH7	ORPHA:324604
HP:0100295	Muscle fiber atrophy	7273	TTN	ORPHA:324604
HP:0100295	Muscle fiber atrophy	2521	FUS	ORPHA:300605
HP:0100295	Muscle fiber atrophy	80208	SPG11	ORPHA:300605
HP:0100295	Muscle fiber atrophy	10280	SIGMAR1	ORPHA:300605
HP:0100295	Muscle fiber atrophy	10558	SPTLC1	ORPHA:300605
HP:0100295	Muscle fiber atrophy	57679	ALS2	ORPHA:300605
HP:0100295	Muscle fiber atrophy	60684	TRAPPC11	ORPHA:369840
HP:0100295	Muscle fiber atrophy	7084	TK2	ORPHA:254886
HP:0100295	Muscle fiber atrophy	5428	POLG	ORPHA:254886
HP:0100295	Muscle fiber atrophy	5428	POLG	OMIM:258450
HP:0100295	Muscle fiber atrophy	3074	HEXB	ORPHA:309169
HP:0100295	Muscle fiber atrophy	88	ACTN2	OMIM:618654
HP:0100295	Muscle fiber atrophy	3181	HNRNPA2B1	OMIM:615422
HP:0100295	Muscle fiber atrophy	23230	VPS13A	ORPHA:2388
HP:0100295	Muscle fiber atrophy	60482	SLC5A7	ORPHA:98914
HP:0100295	Muscle fiber atrophy	4649	MYO9A	ORPHA:98914
HP:0100295	Muscle fiber atrophy	1305	COL13A1	ORPHA:98914
HP:0100295	Muscle fiber atrophy	6576	SLC25A1	ORPHA:98914
HP:0100295	Muscle fiber atrophy	6843	VAMP1	ORPHA:98914
HP:0100295	Muscle fiber atrophy	375790	AGRN	ORPHA:98914
HP:0100295	Muscle fiber atrophy	127833	SYT2	ORPHA:98914
HP:0100295	Muscle fiber atrophy	6572	SLC18A3	ORPHA:98914
HP:0100295	Muscle fiber atrophy	6616	SNAP25	ORPHA:98914
HP:0100295	Muscle fiber atrophy	57211	ADGRG6	OMIM:616503
HP:0100295	Muscle fiber atrophy	9325	TRIP4	OMIM:616866
HP:0100295	Muscle fiber atrophy	1376	CPT2	ORPHA:228302
HP:0100295	Muscle fiber atrophy	246329	STAC3	ORPHA:168572
HP:0100295	Muscle fiber atrophy	5351	PLOD1	ORPHA:1900
HP:0100295	Muscle fiber atrophy	3908	LAMA2	ORPHA:258
HP:0100295	Muscle fiber atrophy	203859	ANO5	ORPHA:206549
HP:0100295	Muscle fiber atrophy	2801	GOLGA2	OMIM:620240
HP:0100293	Hypertrophied muscle fibers	6261	RYR1	ORPHA:98905
HP:0100293	Hypertrophied muscle fibers	7273	TTN	ORPHA:178464
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	ORPHA:97240
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	OMIM:161800
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	ORPHA:171433
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	ORPHA:171430
HP:0100299	Muscle fiber inclusion bodies	58	ACTA1	OMIM:616852
HP:0100299	Muscle fiber inclusion bodies	6261	RYR1	ORPHA:597
HP:0100299	Muscle fiber inclusion bodies	6261	RYR1	OMIM:255320
HP:0100299	Muscle fiber inclusion bodies	6261	RYR1	ORPHA:98905
HP:0100299	Muscle fiber inclusion bodies	6261	RYR1	OMIM:117000
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	OMIM:619334
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	OMIM:256030
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	ORPHA:171433
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	ORPHA:171430
HP:0100299	Muscle fiber inclusion bodies	4703	NEB	ORPHA:399103
HP:0100299	Muscle fiber inclusion bodies	4709	NDUFB3	OMIM:618246
HP:0100299	Muscle fiber inclusion bodies	339855	KY	OMIM:617114
HP:0100299	Muscle fiber inclusion bodies	56203	LMOD3	OMIM:616165
HP:0100299	Muscle fiber inclusion bodies	56203	LMOD3	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	56203	LMOD3	ORPHA:171430
HP:0100299	Muscle fiber inclusion bodies	10324	KLHL41	OMIM:615731
HP:0100299	Muscle fiber inclusion bodies	10324	KLHL41	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	10324	KLHL41	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	10324	KLHL41	ORPHA:171433
HP:0100299	Muscle fiber inclusion bodies	10324	KLHL41	ORPHA:171430
HP:0100299	Muscle fiber inclusion bodies	7170	TPM3	OMIM:609284
HP:0100299	Muscle fiber inclusion bodies	7170	TPM3	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	7170	TPM3	ORPHA:171433
HP:0100299	Muscle fiber inclusion bodies	7169	TPM2	OMIM:609285
HP:0100299	Muscle fiber inclusion bodies	7169	TPM2	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	7169	TPM2	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	84665	MYPN	OMIM:617336
HP:0100299	Muscle fiber inclusion bodies	84665	MYPN	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	79912	PYROXD1	OMIM:617258
HP:0100299	Muscle fiber inclusion bodies	84700	MYO18B	OMIM:616549
HP:0100299	Muscle fiber inclusion bodies	390594	KBTBD13	ORPHA:171439
HP:0100299	Muscle fiber inclusion bodies	390594	KBTBD13	OMIM:609273
HP:0100299	Muscle fiber inclusion bodies	1073	CFL2	OMIM:610687
HP:0100299	Muscle fiber inclusion bodies	1073	CFL2	ORPHA:171436
HP:0100299	Muscle fiber inclusion bodies	4747	NEFL	OMIM:607684
HP:0100299	Muscle fiber inclusion bodies	131377	KLHL40	ORPHA:171430
HP:0100299	Muscle fiber inclusion bodies	131377	KLHL40	OMIM:615348
HP:0100299	Muscle fiber inclusion bodies	7138	TNNT1	OMIM:605355
HP:0100299	Muscle fiber inclusion bodies	2273	FHL1	OMIM:300718
HP:0100299	Muscle fiber inclusion bodies	2273	FHL1	OMIM:300717
HP:0100299	Muscle fiber inclusion bodies	146862	UNC45B	OMIM:619178
HP:0100299	Muscle fiber inclusion bodies	2992	GYG1	OMIM:616199
HP:0100299	Muscle fiber inclusion bodies	3178	HNRNPA1	OMIM:615424
HP:0100299	Muscle fiber inclusion bodies	3178	HNRNPA1	OMIM:615426
HP:0100299	Muscle fiber inclusion bodies	4620	MYH2	OMIM:605637
HP:0100299	Muscle fiber inclusion bodies	1410	CRYAB	ORPHA:399058
HP:0100299	Muscle fiber inclusion bodies	10020	GNE	ORPHA:602
HP:0100299	Muscle fiber inclusion bodies	1798	DPAGT1	OMIM:614750
HP:0100299	Muscle fiber inclusion bodies	1798	DPAGT1	ORPHA:353327
HP:0100299	Muscle fiber inclusion bodies	85365	ALG2	OMIM:616228
HP:0100299	Muscle fiber inclusion bodies	85365	ALG2	ORPHA:353327
HP:0100299	Muscle fiber inclusion bodies	844	CASQ1	ORPHA:2593
HP:0100299	Muscle fiber inclusion bodies	84876	ORAI1	ORPHA:2593
HP:0100299	Muscle fiber inclusion bodies	6786	STIM1	ORPHA:2593
HP:0100299	Muscle fiber inclusion bodies	29925	GMPPB	ORPHA:353327
HP:0100299	Muscle fiber inclusion bodies	2673	GFPT1	ORPHA:353327
HP:0100299	Muscle fiber inclusion bodies	199857	ALG14	ORPHA:353327
HP:0100299	Muscle fiber inclusion bodies	23676	SMPX	OMIM:301075
HP:0100299	Muscle fiber inclusion bodies	2318	FLNC	OMIM:609524
HP:0100299	Muscle fiber inclusion bodies	9499	MYOT	OMIM:609200
HP:0100299	Muscle fiber inclusion bodies	4625	MYH7	OMIM:255160
HP:0100297	Increased endomysial connective tissue	6445	SGCG	ORPHA:353
HP:0100297	Increased endomysial connective tissue	6445	SGCG	OMIM:253700
HP:0100297	Increased endomysial connective tissue	57190	SELENON	OMIM:602771
HP:0100297	Increased endomysial connective tissue	26092	TOR1AIP1	OMIM:617072
HP:0100297	Increased endomysial connective tissue	10755	GIPC1	OMIM:618940
HP:0100297	Increased endomysial connective tissue	4625	MYH7	ORPHA:437572
HP:0100297	Increased endomysial connective tissue	100996717	NOTCH2NLC	OMIM:619473
HP:0100297	Increased endomysial connective tissue	9215	LARGE1	OMIM:613154
HP:0100297	Increased endomysial connective tissue	23345	SYNE1	OMIM:618484
HP:0100297	Increased endomysial connective tissue	55624	POMGNT1	OMIM:613157
HP:0100297	Increased endomysial connective tissue	311	ANXA11	OMIM:619733
HP:0100297	Increased endomysial connective tissue	779	CACNA1S	OMIM:620246
HP:0100297	Increased endomysial connective tissue	9990	SLC12A6	OMIM:620068
HP:0100297	Increased endomysial connective tissue	6442	SGCA	OMIM:608099
HP:0100297	Increased endomysial connective tissue	1303	COL12A1	ORPHA:75840
HP:0100297	Increased endomysial connective tissue	1291	COL6A1	ORPHA:75840
HP:0100297	Increased endomysial connective tissue	1292	COL6A2	ORPHA:75840
HP:0100297	Increased endomysial connective tissue	1293	COL6A3	ORPHA:75840
HP:0100297	Increased endomysial connective tissue	9499	MYOT	ORPHA:266
HP:0100297	Increased endomysial connective tissue	1120	CHKB	OMIM:602541
HP:0100297	Increased endomysial connective tissue	3908	LAMA2	OMIM:607855
HP:0100297	Increased endomysial connective tissue	9325	TRIP4	OMIM:617066
HP:0100297	Increased endomysial connective tissue	51776	MAP3K20	OMIM:617760
HP:0100297	Increased endomysial connective tissue	3178	HNRNPA1	OMIM:615424
HP:0100297	Increased endomysial connective tissue	4632	MYL1	OMIM:618414
HP:0100297	Increased endomysial connective tissue	90523	MLIP	OMIM:620138
HP:0100297	Increased endomysial connective tissue	23534	TNPO3	OMIM:608423
HP:0100297	Increased endomysial connective tissue	7273	TTN	OMIM:611705
HP:0100297	Increased endomysial connective tissue	203859	ANO5	ORPHA:206549
HP:0100298	Motheaten muscle fibers	5339	PLEC	OMIM:226670
HP:0002803	Congenital contracture	199857	ALG14	OMIM:619036
HP:0002803	Congenital contracture	29954	POMT2	OMIM:613150
HP:0002803	Congenital contracture	29954	POMT2	OMIM:236670
HP:0002803	Congenital contracture	4593	MUSK	OMIM:208150
HP:0002803	Congenital contracture	259232	NALCN	OMIM:616266
HP:0002803	Congenital contracture	777	CACNA1E	OMIM:618285
HP:0002803	Congenital contracture	56203	LMOD3	OMIM:616165
HP:0002803	Congenital contracture	100128927	ZBTB42	OMIM:616248
HP:0002803	Congenital contracture	283989	TSEN54	OMIM:277470
HP:0002803	Congenital contracture	283989	TSEN54	OMIM:225753
HP:0002803	Congenital contracture	57211	ADGRG6	OMIM:616503
HP:0002803	Congenital contracture	4703	NEB	OMIM:256030
HP:0002803	Congenital contracture	246329	STAC3	ORPHA:168572
HP:0002803	Congenital contracture	1303	COL12A1	ORPHA:536516
HP:0002803	Congenital contracture	4620	MYH2	OMIM:605637
HP:0002803	Congenital contracture	171023	ASXL1	ORPHA:97297
HP:0002803	Congenital contracture	9496	TBX4	ORPHA:261279
HP:0002803	Congenital contracture	8818	DPM2	OMIM:615042
HP:0002803	Congenital contracture	26053	AUTS2	ORPHA:352490
HP:0002803	Congenital contracture	57222	ERGIC1	OMIM:208100
HP:0002803	Congenital contracture	84340	GFM2	OMIM:618397
HP:0002803	Congenital contracture	1785	DNM2	OMIM:615368
HP:0002803	Congenital contracture	5081	PAX7	OMIM:618578
HP:0002803	Congenital contracture	7443	VRK1	OMIM:607596
HP:0002803	Congenital contracture	26153	KIF26A	OMIM:620156
HP:0002803	Congenital contracture	9215	LARGE1	OMIM:236670
HP:0002803	Congenital contracture	79147	FKRP	OMIM:236670
HP:0002803	Congenital contracture	10585	POMT1	OMIM:236670
HP:0002803	Congenital contracture	2218	FKTN	OMIM:236670
HP:0002803	Congenital contracture	1718	DHCR24	OMIM:602398
HP:0002803	Congenital contracture	2673	GFPT1	OMIM:608931
HP:0002803	Congenital contracture	1145	CHRNE	OMIM:608931
HP:0002803	Congenital contracture	5339	PLEC	OMIM:226730
HP:0002803	Congenital contracture	3691	ITGB4	OMIM:226730
HP:0002803	Congenital contracture	91754	NEK9	OMIM:614262
HP:0002803	Congenital contracture	5913	RAPSN	OMIM:616326
HP:0002803	Congenital contracture	5913	RAPSN	ORPHA:994
HP:0002803	Congenital contracture	2632	GBE1	OMIM:232500
HP:0002803	Congenital contracture	55627	SMPD4	OMIM:618622
HP:0002803	Congenital contracture	1134	CHRNA1	OMIM:608930
HP:0002803	Congenital contracture	2629	GBA1	OMIM:608013
HP:0002803	Congenital contracture	2629	GBA1	ORPHA:85212
HP:0002803	Congenital contracture	55593	OTUD5	OMIM:301056
HP:0002803	Congenital contracture	59341	TRPV4	OMIM:156530
HP:0002803	Congenital contracture	59341	TRPV4	OMIM:600175
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171436
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171433
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171430
HP:0002803	Congenital contracture	58	ACTA1	OMIM:161800
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171439
HP:0002803	Congenital contracture	7169	TPM2	ORPHA:171436
HP:0002803	Congenital contracture	7169	TPM2	OMIM:108120
HP:0002803	Congenital contracture	7169	TPM2	ORPHA:171439
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171436
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171433
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171430
HP:0002803	Congenital contracture	10324	KLHL41	OMIM:615731
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171439
HP:0002803	Congenital contracture	1073	CFL2	ORPHA:171436
HP:0002803	Congenital contracture	60482	SLC5A7	OMIM:617143
HP:0002803	Congenital contracture	60482	SLC5A7	ORPHA:98914
HP:0002803	Congenital contracture	2073	ERCC5	OMIM:616570
HP:0002803	Congenital contracture	2073	ERCC5	ORPHA:1466
HP:0002803	Congenital contracture	7170	TPM3	ORPHA:171433
HP:0002803	Congenital contracture	7170	TPM3	ORPHA:171439
HP:0002803	Congenital contracture	6536	SLC6A9	OMIM:617301
HP:0002803	Congenital contracture	131377	KLHL40	ORPHA:171430
HP:0002803	Congenital contracture	84162	BLTP1	OMIM:617822
HP:0002803	Congenital contracture	23729	SHPK	ORPHA:440713
HP:0002803	Congenital contracture	79158	GNPTAB	OMIM:252500
HP:0002803	Congenital contracture	3767	KCNJ11	ORPHA:99885
HP:0002803	Congenital contracture	6774	STAT3	ORPHA:99885
HP:0002803	Congenital contracture	2645	GCK	ORPHA:99885
HP:0002803	Congenital contracture	3651	PDX1	ORPHA:99885
HP:0002803	Congenital contracture	6833	ABCC8	ORPHA:99885
HP:0002803	Congenital contracture	3630	INS	ORPHA:99885
HP:0002803	Congenital contracture	2067	ERCC1	OMIM:610758
HP:0002803	Congenital contracture	2067	ERCC1	ORPHA:1466
HP:0002803	Congenital contracture	2733	GLE1	OMIM:253310
HP:0002803	Congenital contracture	2733	GLE1	OMIM:611890
HP:0002803	Congenital contracture	56975	FAM20C	OMIM:259775
HP:0002803	Congenital contracture	6904	TBCD	ORPHA:496641
HP:0002803	Congenital contracture	6904	TBCD	OMIM:617193
HP:0002803	Congenital contracture	1146	CHRNG	OMIM:265000
HP:0002803	Congenital contracture	1146	CHRNG	ORPHA:2990
HP:0002803	Congenital contracture	5980	REV3L	ORPHA:570
HP:0002803	Congenital contracture	23129	PLXND1	ORPHA:570
HP:0002803	Congenital contracture	63925	ZNF335	OMIM:615095
HP:0002803	Congenital contracture	55906	ZC4H2	OMIM:314580
HP:0002803	Congenital contracture	1020	CDK5	OMIM:616342
HP:0002803	Congenital contracture	23345	SYNE1	OMIM:618484
HP:0002803	Congenital contracture	23345	SYNE1	ORPHA:319332
HP:0002803	Congenital contracture	29940	DSE	ORPHA:2953
HP:0002803	Congenital contracture	5119	CHMP1A	OMIM:614961
HP:0002803	Congenital contracture	91869	RFT1	ORPHA:244310
HP:0002803	Congenital contracture	2068	ERCC2	ORPHA:1466
HP:0002803	Congenital contracture	2074	ERCC6	ORPHA:1466
HP:0002803	Congenital contracture	2074	ERCC6	OMIM:214150
HP:0002803	Congenital contracture	9326	ZNHIT3	ORPHA:2836
HP:0002803	Congenital contracture	547	KIF1A	ORPHA:2836
HP:0002803	Congenital contracture	6663	SOX10	ORPHA:163746
HP:0002803	Congenital contracture	6663	SOX10	OMIM:609136
HP:0002803	Congenital contracture	55681	SCYL2	OMIM:618766
HP:0002803	Congenital contracture	51008	ASCC1	OMIM:616867
HP:0002803	Congenital contracture	9325	TRIP4	OMIM:616866
HP:0002803	Congenital contracture	26276	VPS33B	OMIM:208085
HP:0002803	Congenital contracture	57498	KIDINS220	OMIM:619501
HP:0002803	Congenital contracture	7317	UBA1	OMIM:301830
HP:0002803	Congenital contracture	7317	UBA1	ORPHA:1145
HP:0002803	Congenital contracture	2783	GNB2	OMIM:619503
HP:0002803	Congenital contracture	63894	VIPAS39	OMIM:613404
HP:0002803	Congenital contracture	2065	ERBB3	OMIM:243180
HP:0002803	Congenital contracture	2065	ERBB3	OMIM:607598
HP:0002803	Congenital contracture	54551	MAGEL2	OMIM:615547
HP:0002803	Congenital contracture	23265	EXOC7	OMIM:619072
HP:0002803	Congenital contracture	4927	NUP88	ORPHA:994
HP:0002803	Congenital contracture	4927	NUP88	OMIM:618393
HP:0002803	Congenital contracture	7846	TUBA1A	ORPHA:994
HP:0002803	Congenital contracture	6572	SLC18A3	ORPHA:994
HP:0002803	Congenital contracture	6572	SLC18A3	ORPHA:98914
HP:0002803	Congenital contracture	285489	DOK7	ORPHA:994
HP:0002803	Congenital contracture	1182	CLCN3	OMIM:619512
HP:0002803	Congenital contracture	94005	PIGS	OMIM:618143
HP:0002803	Congenital contracture	5530	PPP3CA	OMIM:618265
HP:0002803	Congenital contracture	1103	CHAT	OMIM:254210
HP:0002803	Congenital contracture	1103	CHAT	ORPHA:98914
HP:0002803	Congenital contracture	1861	TOR1A	OMIM:618947
HP:0002803	Congenital contracture	23443	SLC35A3	OMIM:615553
HP:0002803	Congenital contracture	11340	EXOSC8	ORPHA:2254
HP:0002803	Congenital contracture	5393	EXOSC9	ORPHA:2254
HP:0002803	Congenital contracture	23287	AGTPBP1	ORPHA:2254
HP:0002803	Congenital contracture	51010	EXOSC3	ORPHA:2254
HP:0002803	Congenital contracture	91137	SLC25A46	ORPHA:2254
HP:0002803	Congenital contracture	5352	PLOD2	ORPHA:2771
HP:0002803	Congenital contracture	60681	FKBP10	ORPHA:2771
HP:0002803	Congenital contracture	55165	CEP55	OMIM:236500
HP:0002803	Congenital contracture	3800	KIF5C	OMIM:615282
HP:0002803	Congenital contracture	23522	KAT6B	ORPHA:85201
HP:0002803	Congenital contracture	9928	KIF14	OMIM:616258
HP:0002803	Congenital contracture	1305	COL13A1	ORPHA:98914
HP:0002803	Congenital contracture	6576	SLC25A1	ORPHA:98914
HP:0002803	Congenital contracture	6843	VAMP1	ORPHA:98914
HP:0002803	Congenital contracture	375790	AGRN	ORPHA:98914
HP:0002803	Congenital contracture	127833	SYT2	ORPHA:98914
HP:0002803	Congenital contracture	6616	SNAP25	ORPHA:98914
HP:0002803	Congenital contracture	23396	PIP5K1C	OMIM:611369
HP:0002803	Congenital contracture	3911	LAMA5	OMIM:620076
HP:0002803	Congenital contracture	4621	MYH3	OMIM:178110
HP:0002803	Congenital contracture	4621	MYH3	ORPHA:2990
HP:0002803	Congenital contracture	9319	TRIP13	OMIM:617598
HP:0002803	Congenital contracture	10479	SLC9A6	ORPHA:85278
HP:0002803	Congenital contracture	200205	IBA57	OMIM:615330
HP:0002803	Congenital contracture	4000	LMNA	ORPHA:1662
HP:0002803	Congenital contracture	10269	ZMPSTE24	ORPHA:1662
HP:0002803	Congenital contracture	84665	MYPN	ORPHA:171439
HP:0002803	Congenital contracture	390594	KBTBD13	ORPHA:171439
HP:0002803	Congenital contracture	10195	ALG3	ORPHA:79321
HP:0002803	Congenital contracture	10195	ALG3	OMIM:601110
HP:0002803	Congenital contracture	3339	HSPG2	ORPHA:800
HP:0002803	Congenital contracture	91574	MTRFR	ORPHA:320375
HP:0002803	Congenital contracture	54101	RIPK4	OMIM:263650
HP:0002803	Congenital contracture	8216	LZTR1	OMIM:605275
HP:0002803	Congenital contracture	23389	MED13L	ORPHA:369891
HP:0002803	Congenital contracture	65055	REEP1	OMIM:620011
HP:0002803	Congenital contracture	2737	GLI3	ORPHA:672
HP:0002803	Congenital contracture	4626	MYH8	OMIM:158300
HP:0002803	Congenital contracture	4626	MYH8	OMIM:608837
HP:0002803	Congenital contracture	7528	YY1	ORPHA:506358
HP:0002803	Congenital contracture	7528	YY1	OMIM:617557
HP:0002803	Congenital contracture	342035	GLDN	OMIM:617194
HP:0002803	Congenital contracture	34	ACADM	ORPHA:42
HP:0002803	Congenital contracture	57003	CCDC47	OMIM:618268
HP:0002803	Congenital contracture	63895	PIEZO2	OMIM:114300
HP:0002803	Congenital contracture	63895	PIEZO2	OMIM:108145
HP:0002803	Congenital contracture	112	ADCY6	OMIM:616287
HP:0002803	Congenital contracture	8506	CNTNAP1	OMIM:616286
HP:0002803	Congenital contracture	4897	NRCAM	OMIM:619833
HP:0002803	Congenital contracture	9289	ADGRG1	ORPHA:98889
HP:0002803	Congenital contracture	5297	PI4KA	ORPHA:98889
HP:0002803	Congenital contracture	27286	SRPX2	ORPHA:98889
HP:0002803	Congenital contracture	7136	TNNI2	OMIM:601680
HP:0002803	Congenital contracture	113189	CHST14	OMIM:601776
HP:0002803	Congenital contracture	4649	MYO9A	OMIM:618198
HP:0002803	Congenital contracture	84896	ATAD1	OMIM:618011
HP:0002803	Congenital contracture	4604	MYBPC1	OMIM:614335
HP:0002803	Congenital contracture	4604	MYBPC1	OMIM:614915
HP:0002803	Congenital contracture	163175	LGI4	OMIM:617468
HP:0002803	Congenital contracture	2201	FBN2	OMIM:121050
HP:0002803	Congenital contracture	4654	MYOD1	OMIM:618975
HP:0002803	Congenital contracture	9896	FIG4	OMIM:611228
HP:0002803	Congenital contracture	23299	BICD2	ORPHA:363454
HP:0002803	Congenital contracture	51305	KCNK9	ORPHA:166108
HP:0002803	Congenital contracture	22880	MORC2	ORPHA:466768
HP:0002803	Congenital contracture	825	CAPN3	ORPHA:267
HP:0002803	Congenital contracture	10216	PRG4	OMIM:208250
HP:0002803	Congenital contracture	113179	ADAT3	ORPHA:363528
HP:0002803	Congenital contracture	7043	TGFB3	OMIM:615582
HP:0002805	Accelerated bone age after puberty	7227	TRPS1	OMIM:190350
HP:0002805	Accelerated bone age after puberty	7227	TRPS1	OMIM:190351
HP:0002948	Vertebral fusion	4920	ROR2	OMIM:268310
HP:0002948	Vertebral fusion	4920	ROR2	OMIM:113000
HP:0002948	Vertebral fusion	6660	SOX5	ORPHA:313892
HP:0002948	Vertebral fusion	5727	PTCH1	ORPHA:377
HP:0002948	Vertebral fusion	5727	PTCH1	OMIM:109400
HP:0002948	Vertebral fusion	8643	PTCH2	ORPHA:377
HP:0002948	Vertebral fusion	51684	SUFU	ORPHA:377
HP:0002948	Vertebral fusion	2239	GPC4	ORPHA:373
HP:0002948	Vertebral fusion	2719	GPC3	ORPHA:373
HP:0002948	Vertebral fusion	79147	FKRP	OMIM:606612
HP:0002948	Vertebral fusion	79147	FKRP	OMIM:607155
HP:0002948	Vertebral fusion	2335	FN1	ORPHA:93315
HP:0002948	Vertebral fusion	1280	COL2A1	ORPHA:93315
HP:0002948	Vertebral fusion	54361	WNT4	ORPHA:3109
HP:0002948	Vertebral fusion	29123	ANKRD11	ORPHA:2332
HP:0002948	Vertebral fusion	29123	ANKRD11	OMIM:148050
HP:0002948	Vertebral fusion	284058	KANSL1	OMIM:610443
HP:0002948	Vertebral fusion	55191	NADSYN1	OMIM:618845
HP:0002948	Vertebral fusion	3081	HGD	OMIM:203500
HP:0002948	Vertebral fusion	54499	TMCO1	OMIM:213980
HP:0002948	Vertebral fusion	2317	FLNB	OMIM:272460
HP:0002948	Vertebral fusion	2317	FLNB	OMIM:150250
HP:0002948	Vertebral fusion	4089	SMAD4	OMIM:139210
HP:0002948	Vertebral fusion	4854	NOTCH3	OMIM:130720
HP:0002948	Vertebral fusion	22827	PUF60	OMIM:615583
HP:0002948	Vertebral fusion	84667	HES7	OMIM:613686
HP:0002948	Vertebral fusion	1146	CHRNG	OMIM:253290
HP:0002948	Vertebral fusion	1144	CHRND	OMIM:253290
HP:0002948	Vertebral fusion	1134	CHRNA1	OMIM:253290
HP:0002948	Vertebral fusion	8200	GDF5	OMIM:610017
HP:0002948	Vertebral fusion	53834	FGFRL1	OMIM:194190
HP:0002948	Vertebral fusion	1487	CTBP1	OMIM:194190
HP:0002948	Vertebral fusion	3954	LETM1	OMIM:194190
HP:0002948	Vertebral fusion	7468	NSD2	OMIM:194190
HP:0002948	Vertebral fusion	10815	CPLX1	OMIM:194190
HP:0002948	Vertebral fusion	4990	SIX6	OMIM:206900
HP:0002948	Vertebral fusion	6657	SOX2	OMIM:206900
HP:0002948	Vertebral fusion	6911	TBX6	OMIM:122600
HP:0002948	Vertebral fusion	10683	DLL3	OMIM:277300
HP:0002948	Vertebral fusion	145873	MESP2	OMIM:277300
HP:0002948	Vertebral fusion	5888	RAD51	ORPHA:238722
HP:0002948	Vertebral fusion	10126	DNAL4	ORPHA:238722
HP:0002948	Vertebral fusion	9423	NTN1	ORPHA:238722
HP:0002948	Vertebral fusion	1630	DCC	ORPHA:238722
HP:0002948	Vertebral fusion	5167	ENPP1	ORPHA:51608
HP:0002948	Vertebral fusion	368	ABCC6	ORPHA:51608
HP:0002948	Vertebral fusion	22943	DKK1	ORPHA:268882
HP:0002948	Vertebral fusion	6885	MAP3K7	OMIM:617137
HP:0002948	Vertebral fusion	6885	MAP3K7	ORPHA:1826
HP:0002948	Vertebral fusion	6885	MAP3K7	OMIM:157800
HP:0002948	Vertebral fusion	1108	CHD4	OMIM:617159
HP:0002948	Vertebral fusion	9939	RBM8A	ORPHA:3320
HP:0002948	Vertebral fusion	9939	RBM8A	OMIM:274000
HP:0002948	Vertebral fusion	9241	NOG	OMIM:184460
HP:0002948	Vertebral fusion	55215	FANCI	OMIM:609053
HP:0002948	Vertebral fusion	3557	IL1RN	OMIM:612852
HP:0002948	Vertebral fusion	51729	WBP11	OMIM:619227
HP:0002948	Vertebral fusion	7547	ZIC3	OMIM:306955
HP:0002948	Vertebral fusion	10992	SF3B2	OMIM:164210
HP:0002948	Vertebral fusion	55252	ASXL2	OMIM:617190
HP:0002948	Vertebral fusion	27125	AFF4	ORPHA:444077
HP:0002948	Vertebral fusion	27125	AFF4	OMIM:616368
HP:0002948	Vertebral fusion	55870	ASH1L	OMIM:617796
HP:0002948	Vertebral fusion	7862	BRPF1	OMIM:617333
HP:0002948	Vertebral fusion	165	AEBP1	OMIM:618000
HP:0002948	Vertebral fusion	84700	MYO18B	OMIM:616549
HP:0002948	Vertebral fusion	1009	CDH11	OMIM:211380
HP:0002948	Vertebral fusion	2263	FGFR2	ORPHA:87
HP:0002948	Vertebral fusion	2263	FGFR2	OMIM:101200
HP:0002948	Vertebral fusion	57167	SALL4	ORPHA:233
HP:0002948	Vertebral fusion	9935	MAFB	ORPHA:233
HP:0002948	Vertebral fusion	1123	CHN1	ORPHA:233
HP:0002948	Vertebral fusion	9573	GDF3	ORPHA:2345
HP:0002948	Vertebral fusion	392255	GDF6	ORPHA:2345
HP:0002948	Vertebral fusion	392255	GDF6	OMIM:118100
HP:0002948	Vertebral fusion	4222	MEOX1	ORPHA:2345
HP:0002948	Vertebral fusion	168667	BMPER	ORPHA:66637
HP:0002948	Vertebral fusion	2245	FGD1	ORPHA:915
HP:0002948	Vertebral fusion	2316	FLNA	ORPHA:90650
HP:0002948	Vertebral fusion	2316	FLNA	ORPHA:90652
HP:0002948	Vertebral fusion	81839	VANGL1	ORPHA:3027
HP:0002948	Vertebral fusion	80199	FUZ	ORPHA:3027
HP:0002948	Vertebral fusion	90	ACVR1	OMIM:135100
HP:0002948	Vertebral fusion	4621	MYH3	OMIM:618469
HP:0005855	Multiple prenatal fractures	3930	LBR	OMIM:215140
HP:0005855	Multiple prenatal fractures	51360	MBTPS2	OMIM:301014
HP:0005855	Multiple prenatal fractures	79879	CCDC134	OMIM:619795
HP:0005855	Multiple prenatal fractures	58	ACTA1	ORPHA:171433
HP:0005855	Multiple prenatal fractures	58	ACTA1	ORPHA:171430
HP:0005855	Multiple prenatal fractures	4703	NEB	ORPHA:171433
HP:0005855	Multiple prenatal fractures	4703	NEB	ORPHA:171430
HP:0005855	Multiple prenatal fractures	10324	KLHL41	ORPHA:171433
HP:0005855	Multiple prenatal fractures	10324	KLHL41	ORPHA:171430
HP:0005855	Multiple prenatal fractures	7170	TPM3	ORPHA:171433
HP:0005855	Multiple prenatal fractures	131377	KLHL40	ORPHA:171430
HP:0005855	Multiple prenatal fractures	56203	LMOD3	ORPHA:171430
HP:0005855	Multiple prenatal fractures	202018	TAPT1	OMIM:616897
HP:0005855	Multiple prenatal fractures	10491	CRTAP	OMIM:610682
HP:0005855	Multiple prenatal fractures	23184	MESD	OMIM:618644
HP:0005855	Multiple prenatal fractures	51008	ASCC1	OMIM:616867
HP:0005855	Multiple prenatal fractures	1277	COL1A1	OMIM:166210
HP:0005855	Multiple prenatal fractures	1277	COL1A1	OMIM:259420
HP:0005855	Multiple prenatal fractures	1278	COL1A2	OMIM:166210
HP:0005855	Multiple prenatal fractures	1278	COL1A2	OMIM:259420
HP:0005855	Multiple prenatal fractures	9325	TRIP4	OMIM:616866
HP:0005855	Multiple prenatal fractures	5479	PPIB	OMIM:259440
HP:0005855	Multiple prenatal fractures	64175	P3H1	OMIM:610915
HP:0002812	Coxa vara	1280	COL2A1	OMIM:184255
HP:0002812	Coxa vara	1280	COL2A1	OMIM:184250
HP:0002812	Coxa vara	1280	COL2A1	ORPHA:93315
HP:0002812	Coxa vara	1280	COL2A1	ORPHA:93316
HP:0002812	Coxa vara	1280	COL2A1	OMIM:609162
HP:0002812	Coxa vara	1280	COL2A1	ORPHA:166011
HP:0002812	Coxa vara	1280	COL2A1	OMIM:156550
HP:0002812	Coxa vara	1280	COL2A1	OMIM:183900
HP:0002812	Coxa vara	2335	FN1	OMIM:184255
HP:0002812	Coxa vara	2335	FN1	ORPHA:93315
HP:0002812	Coxa vara	4322	MMP13	OMIM:602111
HP:0002812	Coxa vara	59341	TRPV4	OMIM:184252
HP:0002812	Coxa vara	59341	TRPV4	ORPHA:93314
HP:0002812	Coxa vara	6399	TRAPPC2	ORPHA:93284
HP:0002812	Coxa vara	6399	TRAPPC2	OMIM:313400
HP:0002812	Coxa vara	65992	DDRGK1	OMIM:602557
HP:0002812	Coxa vara	538	ATP7A	ORPHA:198
HP:0002812	Coxa vara	9131	AIFM1	OMIM:300232
HP:0002812	Coxa vara	2131	EXT1	OMIM:133700
HP:0002812	Coxa vara	1300	COL10A1	OMIM:156500
HP:0002812	Coxa vara	1300	COL10A1	ORPHA:174
HP:0002812	Coxa vara	2132	EXT2	OMIM:133701
HP:0002812	Coxa vara	85301	COL27A1	OMIM:615155
HP:0002812	Coxa vara	579	NKX3-2	OMIM:613330
HP:0002812	Coxa vara	8838	CCN6	OMIM:208230
HP:0002812	Coxa vara	8838	CCN6	ORPHA:1159
HP:0002812	Coxa vara	1857	DVL3	ORPHA:3107
HP:0002812	Coxa vara	7474	WNT5A	ORPHA:3107
HP:0002812	Coxa vara	1855	DVL1	ORPHA:3107
HP:0002812	Coxa vara	2535	FZD2	ORPHA:3107
HP:0002812	Coxa vara	10312	TCIRG1	OMIM:259700
HP:0002812	Coxa vara	6023	RMRP	OMIM:250250
HP:0002812	Coxa vara	5885	RAD21	OMIM:614701
HP:0002812	Coxa vara	755	CFAP410	OMIM:602271
HP:0002812	Coxa vara	81031	SLC2A10	ORPHA:3342
HP:0002812	Coxa vara	4796	TONSL	ORPHA:93357
HP:0002812	Coxa vara	4796	TONSL	OMIM:271510
HP:0002812	Coxa vara	5130	PCYT1A	ORPHA:85167
HP:0002812	Coxa vara	5130	PCYT1A	OMIM:608940
HP:0002812	Coxa vara	51119	SBDS	OMIM:260400
HP:0002812	Coxa vara	134218	DNAJC21	OMIM:260400
HP:0002812	Coxa vara	6729	SRP54	OMIM:260400
HP:0002812	Coxa vara	5176	SERPINF1	OMIM:613982
HP:0002812	Coxa vara	1836	SLC26A2	ORPHA:93307
HP:0002812	Coxa vara	10216	PRG4	ORPHA:2848
HP:0002812	Coxa vara	10216	PRG4	OMIM:208250
HP:0002812	Coxa vara	1311	COMP	ORPHA:93308
HP:0002812	Coxa vara	60681	FKBP10	OMIM:259450
HP:0002812	Coxa vara	60681	FKBP10	OMIM:610968
HP:0002812	Coxa vara	124583	CANT1	OMIM:251450
HP:0002812	Coxa vara	124583	CANT1	ORPHA:1425
HP:0002812	Coxa vara	4148	MATN3	OMIM:607078
HP:0002812	Coxa vara	1297	COL9A1	ORPHA:166002
HP:0002812	Coxa vara	1298	COL9A2	ORPHA:166002
HP:0002812	Coxa vara	1299	COL9A3	ORPHA:166002
HP:0002812	Coxa vara	4784	NFIX	OMIM:602535
HP:0002812	Coxa vara	10940	POP1	OMIM:617396
HP:0002812	Coxa vara	3549	IHH	ORPHA:63446
HP:0002812	Coxa vara	3549	IHH	OMIM:607778
HP:0002812	Coxa vara	11014	KDELR2	OMIM:619131
HP:0002812	Coxa vara	1758	DMP1	ORPHA:289176
HP:0002812	Coxa vara	5167	ENPP1	ORPHA:289176
HP:0002812	Coxa vara	89970	RSPRY1	ORPHA:457395
HP:0002812	Coxa vara	23545	ATP6V0A2	ORPHA:2834
HP:0002812	Coxa vara	23545	ATP6V0A2	OMIM:278250
HP:0002812	Coxa vara	10491	CRTAP	OMIM:610682
HP:0002812	Coxa vara	55325	UFSP2	ORPHA:2114
HP:0002812	Coxa vara	5116	PCNT	ORPHA:2637
HP:0002812	Coxa vara	5116	PCNT	OMIM:210720
HP:0002812	Coxa vara	6137	RPL13	OMIM:618728
HP:0002812	Coxa vara	9496	TBX4	OMIM:147891
HP:0002812	Coxa vara	3339	HSPG2	OMIM:255800
HP:0002812	Coxa vara	3339	HSPG2	ORPHA:800
HP:0002812	Coxa vara	2317	FLNB	OMIM:272460
HP:0002812	Coxa vara	100151683	RNU4ATAC	ORPHA:1824
HP:0002812	Coxa vara	9719	ADAMTSL2	ORPHA:1901
HP:0002812	Coxa vara	9509	ADAMTS2	ORPHA:1901
HP:0002812	Coxa vara	64131	XYLT1	ORPHA:1425
HP:0002812	Coxa vara	55790	CSGALNACT1	ORPHA:1425
HP:0002812	Coxa vara	860	RUNX2	OMIM:119600
HP:0002812	Coxa vara	860	RUNX2	ORPHA:1452
HP:0002812	Coxa vara	1954	MEGF8	OMIM:614976
HP:0002812	Coxa vara	5830	PEX5	OMIM:616716
HP:0002812	Coxa vara	23594	ORC6	OMIM:613803
HP:0002812	Coxa vara	1278	COL1A2	ORPHA:1899
HP:0002812	Coxa vara	1277	COL1A1	ORPHA:1899
HP:0002812	Coxa vara	54808	DYM	ORPHA:239
HP:0002813	Abnormality of limb bone morphology	4854	NOTCH3	ORPHA:2591
HP:0002813	Abnormality of limb bone morphology	3418	IDH2	ORPHA:296
HP:0002813	Abnormality of limb bone morphology	84168	ANTXR1	ORPHA:2067
HP:0002813	Abnormality of limb bone morphology	10617	STAMBP	OMIM:614261
HP:0002813	Abnormality of limb bone morphology	28981	IFT81	OMIM:617895
HP:0002813	Abnormality of limb bone morphology	392255	GDF6	OMIM:617898
HP:0002813	Abnormality of limb bone morphology	5238	PGM3	ORPHA:443811
HP:0002813	Abnormality of limb bone morphology	55733	HHAT	OMIM:600092
HP:0002813	Abnormality of limb bone morphology	1836	SLC26A2	ORPHA:56304
HP:0002813	Abnormality of limb bone morphology	1836	SLC26A2	OMIM:226900
HP:0002813	Abnormality of limb bone morphology	1836	SLC26A2	ORPHA:93307
HP:0002813	Abnormality of limb bone morphology	9786	KIAA0586	ORPHA:397715
HP:0002813	Abnormality of limb bone morphology	114803	MYSM1	ORPHA:508542
HP:0002813	Abnormality of limb bone morphology	149775	GNAS-AS1	OMIM:603233
HP:0002813	Abnormality of limb bone morphology	8675	STX16	OMIM:603233
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	OMIM:603233
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	ORPHA:79443
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	ORPHA:79444
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	ORPHA:79445
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	OMIM:612463
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	OMIM:612462
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	ORPHA:2762
HP:0002813	Abnormality of limb bone morphology	2778	GNAS	OMIM:103580
HP:0002813	Abnormality of limb bone morphology	10026	PIGK	OMIM:618879
HP:0002813	Abnormality of limb bone morphology	28960	DCPS	OMIM:616459
HP:0002813	Abnormality of limb bone morphology	57231	SNX14	ORPHA:397709
HP:0002813	Abnormality of limb bone morphology	57231	SNX14	OMIM:616354
HP:0002813	Abnormality of limb bone morphology	1513	CTSK	OMIM:265800
HP:0002813	Abnormality of limb bone morphology	1513	CTSK	ORPHA:763
HP:0002813	Abnormality of limb bone morphology	818	CAMK2G	OMIM:618522
HP:0002813	Abnormality of limb bone morphology	54453	RIN2	OMIM:613075
HP:0002813	Abnormality of limb bone morphology	54453	RIN2	ORPHA:217335
HP:0002813	Abnormality of limb bone morphology	170691	ADAMTS17	OMIM:613195
HP:0002813	Abnormality of limb bone morphology	9469	CHST3	OMIM:143095
HP:0002813	Abnormality of limb bone morphology	9469	CHST3	ORPHA:263463
HP:0002813	Abnormality of limb bone morphology	7994	KAT6A	ORPHA:457193
HP:0002813	Abnormality of limb bone morphology	7994	KAT6A	OMIM:616268
HP:0002813	Abnormality of limb bone morphology	84100	ARL6	OMIM:209900
HP:0002813	Abnormality of limb bone morphology	84100	ARL6	OMIM:600151
HP:0002813	Abnormality of limb bone morphology	79140	CCDC28B	OMIM:209900
HP:0002813	Abnormality of limb bone morphology	582	BBS1	OMIM:209900
HP:0002813	Abnormality of limb bone morphology	8036	SHOC2	ORPHA:2701
HP:0002813	Abnormality of limb bone morphology	5500	PPP1CB	ORPHA:2701
HP:0002813	Abnormality of limb bone morphology	63901	FAM111A	OMIM:602361
HP:0002813	Abnormality of limb bone morphology	81794	ADAMTS10	OMIM:277600
HP:0002813	Abnormality of limb bone morphology	81794	ADAMTS10	ORPHA:3449
HP:0002813	Abnormality of limb bone morphology	153241	CEP120	ORPHA:474
HP:0002813	Abnormality of limb bone morphology	51626	DYNC2LI1	ORPHA:474
HP:0002813	Abnormality of limb bone morphology	51626	DYNC2LI1	OMIM:617088
HP:0002813	Abnormality of limb bone morphology	79809	TTC21B	ORPHA:474
HP:0002813	Abnormality of limb bone morphology	79809	TTC21B	OMIM:613819
HP:0002813	Abnormality of limb bone morphology	8493	PPM1D	OMIM:617450
HP:0002813	Abnormality of limb bone morphology	56006	SMG9	OMIM:619995
HP:0002813	Abnormality of limb bone morphology	23126	POGZ	OMIM:616364
HP:0002813	Abnormality of limb bone morphology	27125	AFF4	OMIM:616368
HP:0002813	Abnormality of limb bone morphology	27125	AFF4	ORPHA:444077
HP:0002813	Abnormality of limb bone morphology	1311	COMP	OMIM:177170
HP:0002813	Abnormality of limb bone morphology	1311	COMP	ORPHA:750
HP:0002813	Abnormality of limb bone morphology	1311	COMP	ORPHA:93308
HP:0002813	Abnormality of limb bone morphology	4247	MGAT2	ORPHA:79329
HP:0002813	Abnormality of limb bone morphology	8314	BAP1	OMIM:619762
HP:0002813	Abnormality of limb bone morphology	54928	BPNT2	OMIM:614078
HP:0002813	Abnormality of limb bone morphology	3930	LBR	OMIM:215140
HP:0002813	Abnormality of limb bone morphology	3930	LBR	OMIM:618019
HP:0002813	Abnormality of limb bone morphology	3930	LBR	ORPHA:1426
HP:0002813	Abnormality of limb bone morphology	4488	MSX2	OMIM:604757
HP:0002813	Abnormality of limb bone morphology	5727	PTCH1	ORPHA:377
HP:0002813	Abnormality of limb bone morphology	5727	PTCH1	OMIM:109400
HP:0002813	Abnormality of limb bone morphology	8643	PTCH2	ORPHA:377
HP:0002813	Abnormality of limb bone morphology	51684	SUFU	ORPHA:377
HP:0002813	Abnormality of limb bone morphology	6603	SMARCD2	OMIM:617475
HP:0002813	Abnormality of limb bone morphology	23219	FBXO28	OMIM:619777
HP:0002813	Abnormality of limb bone morphology	51322	WAC	ORPHA:466950
HP:0002813	Abnormality of limb bone morphology	29929	ALG6	ORPHA:79320
HP:0002813	Abnormality of limb bone morphology	79053	ALG8	ORPHA:79325
HP:0002813	Abnormality of limb bone morphology	257	ALX3	OMIM:136760
HP:0002813	Abnormality of limb bone morphology	257	ALX3	ORPHA:391474
HP:0002813	Abnormality of limb bone morphology	2623	GATA1	OMIM:190685
HP:0002813	Abnormality of limb bone morphology	176	ACAN	OMIM:612813
HP:0002813	Abnormality of limb bone morphology	176	ACAN	ORPHA:171866
HP:0002813	Abnormality of limb bone morphology	176	ACAN	ORPHA:435804
HP:0002813	Abnormality of limb bone morphology	176	ACAN	OMIM:165800
HP:0002813	Abnormality of limb bone morphology	51114	ZDHHC9	ORPHA:776
HP:0002813	Abnormality of limb bone morphology	65109	UPF3B	ORPHA:776
HP:0002813	Abnormality of limb bone morphology	79068	FTO	OMIM:612938
HP:0002813	Abnormality of limb bone morphology	56975	FAM20C	OMIM:259775
HP:0002813	Abnormality of limb bone morphology	55249	YY1AP1	OMIM:602531
HP:0002813	Abnormality of limb bone morphology	10940	POP1	OMIM:617396
HP:0002813	Abnormality of limb bone morphology	51132	RLIM	OMIM:300978
HP:0002813	Abnormality of limb bone morphology	4141	MARS1	OMIM:619692
HP:0002813	Abnormality of limb bone morphology	1621	DBH	OMIM:223360
HP:0002813	Abnormality of limb bone morphology	2316	FLNA	ORPHA:88630
HP:0002813	Abnormality of limb bone morphology	2316	FLNA	OMIM:300244
HP:0002813	Abnormality of limb bone morphology	5077	PAX3	OMIM:148820
HP:0002813	Abnormality of limb bone morphology	10483	SEC23B	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	6390	SDHB	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	6392	SDHD	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	6391	SDHC	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	205717	USF3	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	5290	PIK3CA	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	100144748	KLLN	ORPHA:201
HP:0002813	Abnormality of limb bone morphology	633	BGN	OMIM:300989
HP:0002813	Abnormality of limb bone morphology	633	BGN	OMIM:300106
HP:0002813	Abnormality of limb bone morphology	7403	KDM6A	OMIM:300867
HP:0002813	Abnormality of limb bone morphology	5144	PDE4D	ORPHA:439822
HP:0002813	Abnormality of limb bone morphology	5144	PDE4D	ORPHA:950
HP:0002813	Abnormality of limb bone morphology	5144	PDE4D	OMIM:614613
HP:0002813	Abnormality of limb bone morphology	5144	PDE4D	ORPHA:280651
HP:0002813	Abnormality of limb bone morphology	6023	RMRP	OMIM:607095
HP:0002813	Abnormality of limb bone morphology	5573	PRKAR1A	OMIM:101800
HP:0002813	Abnormality of limb bone morphology	5573	PRKAR1A	ORPHA:950
HP:0002813	Abnormality of limb bone morphology	5573	PRKAR1A	ORPHA:280651
HP:0002813	Abnormality of limb bone morphology	64374	SIL1	ORPHA:559
HP:0002813	Abnormality of limb bone morphology	51763	INPP5K	ORPHA:559
HP:0002813	Abnormality of limb bone morphology	9851	KIAA0753	OMIM:619479
HP:0002813	Abnormality of limb bone morphology	9851	KIAA0753	ORPHA:2754
HP:0002813	Abnormality of limb bone morphology	5530	PPP3CA	OMIM:618265
HP:0002813	Abnormality of limb bone morphology	10283	CWC27	OMIM:250410
HP:0002813	Abnormality of limb bone morphology	10283	CWC27	ORPHA:166035
HP:0002813	Abnormality of limb bone morphology	6513	SLC2A1	ORPHA:168577
HP:0002813	Abnormality of limb bone morphology	9060	PAPSS2	OMIM:612847
HP:0002813	Abnormality of limb bone morphology	4796	TONSL	OMIM:271510
HP:0002813	Abnormality of limb bone morphology	4796	TONSL	ORPHA:93357
HP:0002813	Abnormality of limb bone morphology	2131	EXT1	ORPHA:502
HP:0002813	Abnormality of limb bone morphology	8720	MBTPS1	OMIM:618392
HP:0002813	Abnormality of limb bone morphology	2077	ERF	OMIM:617180
HP:0002813	Abnormality of limb bone morphology	5130	PCYT1A	ORPHA:85167
HP:0002813	Abnormality of limb bone morphology	5130	PCYT1A	OMIM:608940
HP:0002813	Abnormality of limb bone morphology	23169	SLC35D1	OMIM:269250
HP:0002813	Abnormality of limb bone morphology	407975	MIR17HG	ORPHA:391646
HP:0002813	Abnormality of limb bone morphology	5295	PIK3R1	ORPHA:3163
HP:0002813	Abnormality of limb bone morphology	51371	POMP	OMIM:618048
HP:0002813	Abnormality of limb bone morphology	57152	SLURP1	OMIM:248300
HP:0002813	Abnormality of limb bone morphology	51594	NBAS	OMIM:614800
HP:0002813	Abnormality of limb bone morphology	4000	LMNA	ORPHA:168796
HP:0002813	Abnormality of limb bone morphology	4000	LMNA	OMIM:610140
HP:0002813	Abnormality of limb bone morphology	9897	WASHC5	ORPHA:7
HP:0002813	Abnormality of limb bone morphology	11011	TLK2	OMIM:618050
HP:0002813	Abnormality of limb bone morphology	51109	RDH11	ORPHA:436245
HP:0002813	Abnormality of limb bone morphology	25886	POC1A	OMIM:614813
HP:0002813	Abnormality of limb bone morphology	4053	LTBP2	OMIM:614819
HP:0002813	Abnormality of limb bone morphology	4053	LTBP2	ORPHA:3449
HP:0002813	Abnormality of limb bone morphology	2690	GHR	ORPHA:633
HP:0002813	Abnormality of limb bone morphology	9131	AIFM1	OMIM:300232
HP:0002813	Abnormality of limb bone morphology	118429	ANTXR2	ORPHA:2176
HP:0002813	Abnormality of limb bone morphology	5447	POR	ORPHA:95699
HP:0002813	Abnormality of limb bone morphology	22858	CILK1	OMIM:612651
HP:0002813	Abnormality of limb bone morphology	26153	KIF26A	OMIM:620156
HP:0002813	Abnormality of limb bone morphology	56992	KIF15	ORPHA:261323
HP:0002813	Abnormality of limb bone morphology	8289	ARID1A	OMIM:614607
HP:0002813	Abnormality of limb bone morphology	4054	LTBP3	ORPHA:969
HP:0002813	Abnormality of limb bone morphology	4054	LTBP3	OMIM:617809
HP:0002813	Abnormality of limb bone morphology	222663	SCUBE3	OMIM:619184
HP:0002813	Abnormality of limb bone morphology	6885	MAP3K7	OMIM:157800
HP:0002813	Abnormality of limb bone morphology	6885	MAP3K7	ORPHA:3238
HP:0002813	Abnormality of limb bone morphology	51021	MRPS16	OMIM:610498
HP:0002813	Abnormality of limb bone morphology	4853	NOTCH2	ORPHA:955
HP:0002813	Abnormality of limb bone morphology	2254	FGF9	ORPHA:3237
HP:0002813	Abnormality of limb bone morphology	55343	SLC35C1	OMIM:266265
HP:0002813	Abnormality of limb bone morphology	9321	TRIP11	OMIM:184260
HP:0002813	Abnormality of limb bone morphology	5159	PDGFRB	OMIM:601812
HP:0002813	Abnormality of limb bone morphology	5139	PDE3A	ORPHA:1276
HP:0002813	Abnormality of limb bone morphology	7048	TGFBR2	OMIM:610168
HP:0002813	Abnormality of limb bone morphology	8195	MKKS	ORPHA:2473
HP:0002813	Abnormality of limb bone morphology	4882	NPR2	ORPHA:40
HP:0002813	Abnormality of limb bone morphology	50945	TBX22	ORPHA:921
HP:0002813	Abnormality of limb bone morphology	585	BBS4	OMIM:615982
HP:0002813	Abnormality of limb bone morphology	129880	BBS5	OMIM:615983
HP:0002813	Abnormality of limb bone morphology	27241	BBS9	OMIM:615986
HP:0002813	Abnormality of limb bone morphology	196528	ARID2	OMIM:617808
HP:0002813	Abnormality of limb bone morphology	55081	IFT57	OMIM:617927
HP:0002813	Abnormality of limb bone morphology	6938	TCF12	ORPHA:35099
HP:0002813	Abnormality of limb bone morphology	6938	TCF12	OMIM:615314
HP:0002813	Abnormality of limb bone morphology	7545	ZIC1	ORPHA:35099
HP:0002813	Abnormality of limb bone morphology	92482	BBIP1	OMIM:615995
HP:0002813	Abnormality of limb bone morphology	5053	PAH	ORPHA:2209
HP:0002813	Abnormality of limb bone morphology	101929726	MYMX	ORPHA:1358
HP:0002813	Abnormality of limb bone morphology	114548	NLRP3	ORPHA:1451
HP:0002813	Abnormality of limb bone morphology	9419	CRIPT	OMIM:615789
HP:0002813	Abnormality of limb bone morphology	9361	LONP1	ORPHA:1458
HP:0002813	Abnormality of limb bone morphology	8092	ALX1	ORPHA:306542
HP:0002813	Abnormality of limb bone morphology	54361	WNT4	ORPHA:247768
HP:0002813	Abnormality of limb bone morphology	55617	TASP1	OMIM:618950
HP:0002813	Abnormality of limb bone morphology	5744	PTHLH	OMIM:613382
HP:0002813	Abnormality of limb bone morphology	113246	C12orf57	OMIM:218340
HP:0002813	Abnormality of limb bone morphology	5331	PLCB3	OMIM:618961
HP:0002813	Abnormality of limb bone morphology	387	RHOA	OMIM:618727
HP:0002813	Abnormality of limb bone morphology	10210	TOPORS	ORPHA:2754
HP:0002813	Abnormality of limb bone morphology	317662	FAM149B1	ORPHA:2754
HP:0002813	Abnormality of limb bone morphology	23404	EXOSC2	OMIM:617763
HP:0002813	Abnormality of limb bone morphology	406932	MIR140	OMIM:618618
HP:0002813	Abnormality of limb bone morphology	25871	NEPRO	OMIM:618853
HP:0002813	Abnormality of limb bone morphology	255758	DYNLT2B	OMIM:617405
HP:0002813	Abnormality of limb bone morphology	5604	MAP2K1	OMIM:163950
HP:0002813	Abnormality of limb bone morphology	50964	SOST	OMIM:269500
HP:0002813	Abnormality of limb bone morphology	84529	CDIN1	OMIM:615631
HP:0002813	Abnormality of limb bone morphology	7681	MKRN3	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	3653	IPW	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	791114	PWRN1	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	8924	HERC2	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	145624	PWAR1	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	23742	NPAP1	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	338433	SNORD115-1	OMIM:176270
HP:0002813	Abnormality of limb bone morphology	1723	DHODH	OMIM:263750
HP:0002813	Abnormality of limb bone morphology	4552	MTRR	ORPHA:2169
HP:0002813	Abnormality of limb bone morphology	2192	FBLN1	ORPHA:404451
HP:0002813	Abnormality of limb bone morphology	8913	CACNA1G	OMIM:618087
HP:0002813	Abnormality of limb bone morphology	23389	MED13L	ORPHA:369891
HP:0002813	Abnormality of limb bone morphology	8550	MAPKAPK5	OMIM:619869
HP:0002813	Abnormality of limb bone morphology	29957	SLC25A24	OMIM:612289
HP:0002813	Abnormality of limb bone morphology	4659	PPP1R12A	OMIM:618820
HP:0002813	Abnormality of limb bone morphology	6305	SBF1	OMIM:615284
HP:0002813	Abnormality of limb bone morphology	57688	ZSWIM6	OMIM:603671
HP:0002813	Abnormality of limb bone morphology	79989	IFT56	OMIM:619534
HP:0002813	Abnormality of limb bone morphology	775	CACNA1C	OMIM:618447
HP:0002813	Abnormality of limb bone morphology	8831	SYNGAP1	ORPHA:1942
HP:0002813	Abnormality of limb bone morphology	1173	AP2M1	ORPHA:1942
HP:0002813	Abnormality of limb bone morphology	6323	SCN1A	ORPHA:1942
HP:0002813	Abnormality of limb bone morphology	1106	CHD2	ORPHA:1942
HP:0002813	Abnormality of limb bone morphology	6529	SLC6A1	ORPHA:1942
HP:0002813	Abnormality of limb bone morphology	3914	LAMB3	OMIM:226700
HP:0002813	Abnormality of limb bone morphology	3909	LAMA3	OMIM:226700
HP:0002813	Abnormality of limb bone morphology	3918	LAMC2	OMIM:226700
HP:0002813	Abnormality of limb bone morphology	54101	RIPK4	OMIM:263650
HP:0002813	Abnormality of limb bone morphology	92935	MARS2	OMIM:616430
HP:0002813	Abnormality of limb bone morphology	146059	CDAN1	OMIM:224120
HP:0002813	Abnormality of limb bone morphology	4038	LRP4	OMIM:212780
HP:0002813	Abnormality of limb bone morphology	54806	AHI1	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	54806	AHI1	ORPHA:220493
HP:0002813	Abnormality of limb bone morphology	200894	ARL13B	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	9731	CEP104	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	23247	KATNIP	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	219854	TMEM218	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	95681	CEP41	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	95681	CEP41	ORPHA:220493
HP:0002813	Abnormality of limb bone morphology	10464	PIBF1	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	23116	TOGARAM1	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	25776	CBY1	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	403	ARL3	ORPHA:475
HP:0002813	Abnormality of limb bone morphology	5626	PROP1	ORPHA:226307
HP:0002813	Abnormality of limb bone morphology	89884	LHX4	ORPHA:226307
HP:0002813	Abnormality of limb bone morphology	8022	LHX3	ORPHA:226307
HP:0002813	Abnormality of limb bone morphology	5449	POU1F1	ORPHA:226307
HP:0002813	Abnormality of limb bone morphology	8820	HESX1	ORPHA:226307
HP:0002813	Abnormality of limb bone morphology	51	ACOX1	ORPHA:2971
HP:0002813	Abnormality of limb bone morphology	7547	ZIC3	OMIM:314390
HP:0002813	Abnormality of limb bone morphology	26154	ABCA12	ORPHA:457
HP:0002813	Abnormality of limb bone morphology	8241	RBM10	ORPHA:2886
HP:0002813	Abnormality of limb bone morphology	51524	TMEM138	ORPHA:2318
HP:0002813	Abnormality of limb bone morphology	23090	ZNF423	ORPHA:2318
HP:0002813	Abnormality of limb bone morphology	5566	PRKACA	ORPHA:289
HP:0002813	Abnormality of limb bone morphology	2313	FLI1	ORPHA:2308
HP:0002813	Abnormality of limb bone morphology	6309	SC5D	ORPHA:46059
HP:0002813	Abnormality of limb bone morphology	6309	SC5D	OMIM:607330
HP:0002813	Abnormality of limb bone morphology	894	CCND2	ORPHA:83473
HP:0002813	Abnormality of limb bone morphology	894	CCND2	OMIM:615938
HP:0002813	Abnormality of limb bone morphology	5296	PIK3R2	ORPHA:83473
HP:0002813	Abnormality of limb bone morphology	10000	AKT3	ORPHA:83473
HP:0002813	Abnormality of limb bone morphology	10000	AKT3	OMIM:615937
HP:0002813	Abnormality of limb bone morphology	56623	INPP5E	OMIM:213300
HP:0002813	Abnormality of limb bone morphology	56623	INPP5E	ORPHA:1454
HP:0002813	Abnormality of limb bone morphology	55593	OTUD5	OMIM:301056
HP:0002813	Abnormality of limb bone morphology	83479	DDX59	OMIM:174300
HP:0002813	Abnormality of limb bone morphology	83479	DDX59	ORPHA:2919
HP:0002813	Abnormality of limb bone morphology	285600	KIAA0825	OMIM:618498
HP:0002813	Abnormality of limb bone morphology	26005	C2CD3	OMIM:615948
HP:0002813	Abnormality of limb bone morphology	26005	C2CD3	ORPHA:434179
HP:0002813	Abnormality of limb bone morphology	26040	SETBP1	OMIM:269150
HP:0002813	Abnormality of limb bone morphology	11020	IFT27	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	49855	SCAPER	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	4867	NPHP1	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	84984	CEP19	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	22954	TRIM32	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	79738	BBS10	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	123016	TTC8	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	583	BBS2	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	583	BBS2	OMIM:615981
HP:0002813	Abnormality of limb bone morphology	166379	BBS12	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	166379	BBS12	OMIM:615989
HP:0002813	Abnormality of limb bone morphology	10806	SDCCAG8	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	157657	CFAP418	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	157657	CFAP418	OMIM:617406
HP:0002813	Abnormality of limb bone morphology	80173	IFT74	ORPHA:110
HP:0002813	Abnormality of limb bone morphology	79005	SCNM1	OMIM:620107
HP:0002813	Abnormality of limb bone morphology	2736	GLI2	OMIM:610829
HP:0002813	Abnormality of limb bone morphology	51360	MBTPS2	OMIM:308205
HP:0002813	Abnormality of limb bone morphology	51360	MBTPS2	ORPHA:85284
HP:0002813	Abnormality of limb bone morphology	80210	ARMC9	OMIM:617622
HP:0002813	Abnormality of limb bone morphology	23288	IQCE	OMIM:617642
HP:0002813	Abnormality of limb bone morphology	137392	CIBAR1	OMIM:618219
HP:0002813	Abnormality of limb bone morphology	7700	ZNF141	OMIM:615226
HP:0002813	Abnormality of limb bone morphology	4088	SMAD3	ORPHA:284984
HP:0002813	Abnormality of limb bone morphology	4088	SMAD3	OMIM:613795
HP:0002813	Abnormality of limb bone morphology	4088	SMAD3	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	875	CBS	ORPHA:394
HP:0002813	Abnormality of limb bone morphology	875	CBS	OMIM:236200
HP:0002813	Abnormality of limb bone morphology	25970	SH2B1	ORPHA:261222
HP:0002813	Abnormality of limb bone morphology	199857	ALG14	OMIM:619036
HP:0002813	Abnormality of limb bone morphology	8925	HERC1	OMIM:617011
HP:0002813	Abnormality of limb bone morphology	8925	HERC1	ORPHA:457359
HP:0002813	Abnormality of limb bone morphology	1075	CTSC	OMIM:245010
HP:0002813	Abnormality of limb bone morphology	1075	CTSC	ORPHA:678
HP:0002813	Abnormality of limb bone morphology	5351	PLOD1	OMIM:225400
HP:0002813	Abnormality of limb bone morphology	8076	MFAP5	OMIM:616166
HP:0002813	Abnormality of limb bone morphology	8076	MFAP5	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	80816	ASXL3	OMIM:615485
HP:0002813	Abnormality of limb bone morphology	80816	ASXL3	ORPHA:352577
HP:0002813	Abnormality of limb bone morphology	72	ACTG2	ORPHA:2604
HP:0002813	Abnormality of limb bone morphology	30008	EFEMP2	OMIM:614437
HP:0002813	Abnormality of limb bone morphology	79693	YRDC	OMIM:619609
HP:0002813	Abnormality of limb bone morphology	1146	CHRNG	OMIM:265000
HP:0002813	Abnormality of limb bone morphology	284058	KANSL1	ORPHA:363958
HP:0002813	Abnormality of limb bone morphology	284058	KANSL1	ORPHA:363965
HP:0002813	Abnormality of limb bone morphology	1272	CNTN1	OMIM:612540
HP:0002813	Abnormality of limb bone morphology	29920	PYCR2	ORPHA:481152
HP:0002813	Abnormality of limb bone morphology	29920	PYCR2	OMIM:616420
HP:0002813	Abnormality of limb bone morphology	1312	COMT	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	221037	JMJD1C	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	2812	GP1BB	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	6239	RREB1	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	7290	HIRA	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	9632	SEC24C	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	7353	UFD1	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	421	ARVCF	ORPHA:567
HP:0002813	Abnormality of limb bone morphology	444	ASPH	OMIM:601552
HP:0002813	Abnormality of limb bone morphology	79576	NKAP	OMIM:301039
HP:0002813	Abnormality of limb bone morphology	3188	HNRNPH2	OMIM:300986
HP:0002813	Abnormality of limb bone morphology	23152	CIC	OMIM:617600
HP:0002813	Abnormality of limb bone morphology	649	BMP1	OMIM:614856
HP:0002813	Abnormality of limb bone morphology	165	AEBP1	ORPHA:536532
HP:0002813	Abnormality of limb bone morphology	11285	B4GALT7	ORPHA:75496
HP:0002813	Abnormality of limb bone morphology	11285	B4GALT7	OMIM:130070
HP:0002813	Abnormality of limb bone morphology	10526	IPO8	OMIM:619472
HP:0002813	Abnormality of limb bone morphology	10526	IPO8	ORPHA:60030
HP:0002813	Abnormality of limb bone morphology	4534	MTM1	OMIM:310400
HP:0002813	Abnormality of limb bone morphology	5184	PEPD	ORPHA:742
HP:0002813	Abnormality of limb bone morphology	715	C1R	OMIM:130080
HP:0002813	Abnormality of limb bone morphology	60676	PAPPA2	OMIM:619489
HP:0002813	Abnormality of limb bone morphology	1742	DLG4	OMIM:618793
HP:0002813	Abnormality of limb bone morphology	6605	SMARCE1	OMIM:616938
HP:0002813	Abnormality of limb bone morphology	11107	PRDM5	ORPHA:90354
HP:0002813	Abnormality of limb bone morphology	84627	ZNF469	ORPHA:90354
HP:0002813	Abnormality of limb bone morphology	4677	NARS1	OMIM:619092
HP:0002813	Abnormality of limb bone morphology	6651	SON	ORPHA:500150
HP:0002813	Abnormality of limb bone morphology	2193	FARSA	OMIM:619013
HP:0002813	Abnormality of limb bone morphology	4087	SMAD2	OMIM:619656
HP:0002813	Abnormality of limb bone morphology	4087	SMAD2	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	29893	PSMC3IP	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	171568	POLR3H	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	2516	NR5A1	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	125150	ZSWIM7	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	9210	BMP15	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	23514	SPIDR	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	2492	FSHR	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	56945	MRPS22	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	646	BNC1	ORPHA:243
HP:0002813	Abnormality of limb bone morphology	4883	NPR3	OMIM:619543
HP:0002813	Abnormality of limb bone morphology	7043	TGFB3	OMIM:615582
HP:0002813	Abnormality of limb bone morphology	7043	TGFB3	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	7046	TGFBR1	ORPHA:60030
HP:0002813	Abnormality of limb bone morphology	7046	TGFBR1	OMIM:609192
HP:0002813	Abnormality of limb bone morphology	7046	TGFBR1	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	56603	CYP26B1	OMIM:614416
HP:0002813	Abnormality of limb bone morphology	7042	TGFB2	OMIM:614816
HP:0002813	Abnormality of limb bone morphology	7042	TGFB2	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	4629	MYH11	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	4015	LOX	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	59	ACTA2	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	5592	PRKG1	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	2301	FOXE3	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	4144	MAT2A	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	23493	HEY2	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	4638	MYLK	ORPHA:91387
HP:0002813	Abnormality of limb bone morphology	1593	CYP27A1	ORPHA:909
HP:0002813	Abnormality of limb bone morphology	23400	ATP13A2	ORPHA:306674
HP:0002813	Abnormality of limb bone morphology	134218	DNAJC21	ORPHA:811
HP:0002813	Abnormality of limb bone morphology	79631	EFL1	ORPHA:811
HP:0002813	Abnormality of limb bone morphology	51119	SBDS	ORPHA:811
HP:0002813	Abnormality of limb bone morphology	6729	SRP54	ORPHA:811
HP:0002813	Abnormality of limb bone morphology	6926	TBX3	ORPHA:3138
HP:0002813	Abnormality of limb bone morphology	64840	PORCN	OMIM:305600
HP:0002813	Abnormality of limb bone morphology	64840	PORCN	ORPHA:2092
HP:0002813	Abnormality of limb bone morphology	5376	PMP22	OMIM:118300
HP:0002813	Abnormality of limb bone morphology	5376	PMP22	OMIM:118220
HP:0002813	Abnormality of limb bone morphology	5376	PMP22	ORPHA:90658
HP:0002813	Abnormality of limb bone morphology	5376	PMP22	OMIM:145900
HP:0002813	Abnormality of limb bone morphology	6910	TBX5	ORPHA:392
HP:0002813	Abnormality of limb bone morphology	22880	MORC2	OMIM:616688
HP:0002813	Abnormality of limb bone morphology	1001	CDH3	OMIM:225280
HP:0002813	Abnormality of limb bone morphology	8626	TP63	OMIM:604292
HP:0002813	Abnormality of limb bone morphology	8626	TP63	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	8626	TP63	OMIM:103285
HP:0002813	Abnormality of limb bone morphology	8626	TP63	OMIM:603543
HP:0002813	Abnormality of limb bone morphology	8626	TP63	OMIM:605289
HP:0002813	Abnormality of limb bone morphology	8626	TP63	ORPHA:1896
HP:0002813	Abnormality of limb bone morphology	4047	LSS	ORPHA:2850
HP:0002813	Abnormality of limb bone morphology	197	AHSG	ORPHA:2850
HP:0002813	Abnormality of limb bone morphology	3694	ITGB6	ORPHA:2850
HP:0002813	Abnormality of limb bone morphology	79581	SLC52A2	OMIM:614707
HP:0002813	Abnormality of limb bone morphology	411	ARSB	OMIM:253200
HP:0002813	Abnormality of limb bone morphology	9150	CTDP1	OMIM:604168
HP:0002813	Abnormality of limb bone morphology	54332	GDAP1	OMIM:607831
HP:0002813	Abnormality of limb bone morphology	54332	GDAP1	ORPHA:101097
HP:0002813	Abnormality of limb bone morphology	56704	JPH1	OMIM:607831
HP:0002813	Abnormality of limb bone morphology	51776	MAP3K20	OMIM:616890
HP:0002813	Abnormality of limb bone morphology	1750	DLX6	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	7979	SEM1	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	8945	BTRC	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	58513	EPS15L1	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	6468	FBXW4	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	7480	WNT10B	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	7480	WNT10B	OMIM:225300
HP:0002813	Abnormality of limb bone morphology	1749	DLX5	ORPHA:2440
HP:0002813	Abnormality of limb bone morphology	1749	DLX5	OMIM:183600
HP:0002813	Abnormality of limb bone morphology	1749	DLX5	OMIM:220600
HP:0002813	Abnormality of limb bone morphology	1717	DHCR7	ORPHA:818
HP:0002813	Abnormality of limb bone morphology	81846	SBF2	OMIM:604563
HP:0002813	Abnormality of limb bone morphology	79158	GNPTAB	OMIM:252500
HP:0002813	Abnormality of limb bone morphology	79158	GNPTAB	OMIM:252600
HP:0002813	Abnormality of limb bone morphology	3516	RBPJ	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	4851	NOTCH1	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	57514	ARHGAP31	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	57572	DOCK6	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	285203	EOGT	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	54567	DLL4	ORPHA:974
HP:0002813	Abnormality of limb bone morphology	8888	MCM3AP	OMIM:618124
HP:0002813	Abnormality of limb bone morphology	4359	MPZ	OMIM:118200
HP:0002813	Abnormality of limb bone morphology	4359	MPZ	OMIM:145900
HP:0002813	Abnormality of limb bone morphology	3423	IDS	OMIM:309900
HP:0002813	Abnormality of limb bone morphology	3664	IRF6	ORPHA:1300
HP:0002813	Abnormality of limb bone morphology	374969	SVBP	OMIM:618569
HP:0002813	Abnormality of limb bone morphology	3295	HSD17B4	OMIM:261515
HP:0002813	Abnormality of limb bone morphology	7476	WNT7A	OMIM:276820
HP:0002813	Abnormality of limb bone morphology	1509	CTSD	OMIM:610127
HP:0002813	Abnormality of limb bone morphology	64359	NXN	ORPHA:1507
HP:0002813	Abnormality of limb bone morphology	4920	ROR2	ORPHA:1507
HP:0002813	Abnormality of limb bone morphology	26580	BSCL2	OMIM:270685
HP:0002813	Abnormality of limb bone morphology	26580	BSCL2	ORPHA:100998
HP:0002813	Abnormality of limb bone morphology	4313	MMP2	OMIM:259600
HP:0002813	Abnormality of limb bone morphology	2260	FGFR1	ORPHA:2117
HP:0002813	Abnormality of limb bone morphology	10397	NDRG1	ORPHA:99950
HP:0002813	Abnormality of limb bone morphology	4747	NEFL	OMIM:617882
HP:0002813	Abnormality of limb bone morphology	1959	EGR2	OMIM:145900
HP:0002813	Abnormality of limb bone morphology	57716	PRX	OMIM:145900
HP:0002813	Abnormality of limb bone morphology	2189	FANCG	OMIM:614082
HP:0002813	Abnormality of limb bone morphology	2189	FANCG	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	80207	OPA3	ORPHA:67036
HP:0002813	Abnormality of limb bone morphology	9158	FIBP	ORPHA:500095
HP:0002813	Abnormality of limb bone morphology	9968	MED12	ORPHA:93932
HP:0002813	Abnormality of limb bone morphology	8200	GDF5	ORPHA:2639
HP:0002813	Abnormality of limb bone morphology	658	BMPR1B	ORPHA:2639
HP:0002813	Abnormality of limb bone morphology	672	BRCA1	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	10459	MAD2L2	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	7516	XRCC2	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	29089	UBE2T	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	675	BRCA2	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	55120	FANCL	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2175	FANCA	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2187	FANCB	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2176	FANCC	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2178	FANCE	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2188	FANCF	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	5888	RAD51	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	5889	RAD51C	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	55159	RFWD3	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	83990	BRIP1	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	57697	FANCM	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	79728	PALB2	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	84464	SLX4	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	2072	ERCC4	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	55215	FANCI	ORPHA:84
HP:0002813	Abnormality of limb bone morphology	64093	SMOC1	ORPHA:1106
HP:0002813	Abnormality of limb bone morphology	2261	FGFR3	OMIM:620192
HP:0002813	Abnormality of limb bone morphology	2261	FGFR3	ORPHA:2363
HP:0002813	Abnormality of limb bone morphology	23111	SPART	ORPHA:101000
HP:0002813	Abnormality of limb bone morphology	25942	SIN3A	ORPHA:94065
HP:0002813	Abnormality of limb bone morphology	1193	CLIC2	ORPHA:324410
HP:0002813	Abnormality of limb bone morphology	860	RUNX2	ORPHA:1452
HP:0002813	Abnormality of limb bone morphology	2255	FGF10	ORPHA:2363
HP:0002813	Abnormality of limb bone morphology	6469	SHH	ORPHA:93321
HP:0002813	Abnormality of limb bone morphology	57167	SALL4	ORPHA:233
HP:0002813	Abnormality of limb bone morphology	57167	SALL4	ORPHA:959
HP:0002813	Abnormality of limb bone morphology	57167	SALL4	ORPHA:2307
HP:0002813	Abnormality of limb bone morphology	9935	MAFB	ORPHA:233
HP:0002813	Abnormality of limb bone morphology	1123	CHN1	ORPHA:233
HP:0002813	Abnormality of limb bone morphology	2137	EXTL3	ORPHA:508533
HP:0002813	Abnormality of limb bone morphology	22827	PUF60	ORPHA:508498
HP:0002813	Abnormality of limb bone morphology	65250	CPLANE1	OMIM:277170
HP:0002813	Abnormality of limb bone morphology	6608	SMO	OMIM:601707
HP:0002813	Abnormality of limb bone morphology	6608	SMO	ORPHA:1553
HP:0002813	Abnormality of limb bone morphology	4750	NEK1	OMIM:263520
HP:0002813	Abnormality of limb bone morphology	2737	GLI3	OMIM:175700
HP:0002813	Abnormality of limb bone morphology	2737	GLI3	ORPHA:380
HP:0002813	Abnormality of limb bone morphology	2737	GLI3	OMIM:174200
HP:0002813	Abnormality of limb bone morphology	64327	LMBR1	ORPHA:2378
HP:0002813	Abnormality of limb bone morphology	64327	LMBR1	OMIM:174500
HP:0002813	Abnormality of limb bone morphology	55027	HEATR3	OMIM:620072
HP:0002813	Abnormality of limb bone morphology	6299	SALL1	OMIM:107480
HP:0002813	Abnormality of limb bone morphology	6299	SALL1	ORPHA:857
HP:0002813	Abnormality of limb bone morphology	55112	DYNC2I1	ORPHA:93271
HP:0002813	Abnormality of limb bone morphology	57560	IFT80	ORPHA:93271
HP:0002813	Abnormality of limb bone morphology	57539	WDR35	ORPHA:93271
HP:0002813	Abnormality of limb bone morphology	79659	DYNC2H1	ORPHA:93271
HP:0002813	Abnormality of limb bone morphology	89891	DYNC2I2	ORPHA:93271
HP:0002813	Abnormality of limb bone morphology	374879	ZNF699	OMIM:619488
HP:0002813	Abnormality of limb bone morphology	374654	KIF7	OMIM:200990
HP:0002813	Abnormality of limb bone morphology	8318	CDC45	OMIM:617063
HP:0002813	Abnormality of limb bone morphology	51339	DACT1	ORPHA:857
HP:0002813	Abnormality of limb bone morphology	2177	FANCD2	OMIM:227646
HP:0002813	Abnormality of limb bone morphology	727857	BHLHA9	ORPHA:3329
HP:0002813	Abnormality of limb bone morphology	23133	PHF8	ORPHA:85287
HP:0002813	Abnormality of limb bone morphology	8481	OFD1	ORPHA:2750
HP:0002813	Abnormality of limb bone morphology	219844	HYLS1	OMIM:236680
HP:0002813	Abnormality of limb bone morphology	26123	TCTN3	ORPHA:2753
HP:0002813	Abnormality of limb bone morphology	26123	TCTN3	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	2697	GJA1	ORPHA:2710
HP:0002813	Abnormality of limb bone morphology	3239	HOXD13	ORPHA:887
HP:0002813	Abnormality of limb bone morphology	7020	TFAP2A	OMIM:113620
HP:0002813	Abnormality of limb bone morphology	7020	TFAP2A	ORPHA:1297
HP:0002813	Abnormality of limb bone morphology	84314	TMEM107	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	79867	TCTN2	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	80776	B9D2	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	79600	TCTN1	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	57096	RPGRIP1	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	79848	CSPP1	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	80184	CEP290	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	51259	TMEM216	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	57545	CC2D2A	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	79583	TMEM231	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	91147	TMEM67	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	79770	TXNDC15	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	27077	B9D1	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	23322	RPGRIP1L	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	54903	MKS1	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	65062	TMEM237	ORPHA:564
HP:0002813	Abnormality of limb bone morphology	10815	CPLX1	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	10815	CPLX1	OMIM:194190
HP:0002813	Abnormality of limb bone morphology	54872	PIGG	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	7469	NELFA	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	1487	CTBP1	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	1487	CTBP1	OMIM:194190
HP:0002813	Abnormality of limb bone morphology	3954	LETM1	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	3954	LETM1	OMIM:194190
HP:0002813	Abnormality of limb bone morphology	7468	NSD2	ORPHA:280
HP:0002813	Abnormality of limb bone morphology	7468	NSD2	OMIM:194190
HP:0002813	Abnormality of limb bone morphology	2735	GLI1	OMIM:174400
HP:0002813	Abnormality of limb bone morphology	53834	FGFRL1	OMIM:194190
HP:0002813	Abnormality of limb bone morphology	9343	EFTUD2	OMIM:610536
HP:0002813	Abnormality of limb bone morphology	9343	EFTUD2	ORPHA:79113
HP:0002813	Abnormality of limb bone morphology	2263	FGFR2	OMIM:101200
HP:0002813	Abnormality of limb bone morphology	157570	ESCO2	OMIM:268300
HP:0002813	Abnormality of limb bone morphology	9401	RECQL4	ORPHA:1225
HP:0002813	Abnormality of limb bone morphology	25836	NIPBL	OMIM:122470
HP:0002813	Abnormality of limb bone morphology	6154	RPL26	OMIM:614900
HP:0002813	Abnormality of limb bone morphology	10262	SF3B4	ORPHA:1788
HP:0002813	Abnormality of limb bone morphology	1802	DPH2	OMIM:620062
HP:0002813	Abnormality of limb bone morphology	91949	COG7	OMIM:608779
HP:0002813	Abnormality of limb bone morphology	91949	COG7	ORPHA:79333
HP:0002813	Abnormality of limb bone morphology	27238	GPKOW	ORPHA:2570
HP:0002813	Abnormality of limb bone morphology	23141	ANKLE2	OMIM:616681
HP:0002813	Abnormality of limb bone morphology	29895	MYL11	OMIM:619110
HP:0002813	Abnormality of limb bone morphology	5393	EXOSC9	OMIM:618065
HP:0002813	Abnormality of limb bone morphology	1861	TOR1A	OMIM:618947
HP:0002813	Abnormality of limb bone morphology	55627	SMPD4	OMIM:618622
HP:0002813	Abnormality of limb bone morphology	6804	STX1A	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	7461	CLIP2	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	84277	DNAJC30	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	8468	FKBP6	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	5982	RFC2	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	2969	GTF2I	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	3984	LIMK1	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	155382	VPS37D	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	155368	METTL27	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	114049	BUD23	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	7458	EIF4H	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	9275	BCL7B	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	26608	TBL2	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	653361	NCF1	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	135886	TMEM270	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	51085	MLXIPL	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	9031	BAZ1B	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	2006	ELN	ORPHA:904
HP:0002813	Abnormality of limb bone morphology	2006	ELN	ORPHA:90348
HP:0002813	Abnormality of limb bone morphology	5832	ALDH18A1	OMIM:616603
HP:0002813	Abnormality of limb bone morphology	5832	ALDH18A1	OMIM:219150
HP:0002813	Abnormality of limb bone morphology	5832	ALDH18A1	ORPHA:90348
HP:0002813	Abnormality of limb bone morphology	347734	SLC35B2	OMIM:620269
HP:0002813	Abnormality of limb bone morphology	23345	SYNE1	ORPHA:319332
HP:0002813	Abnormality of limb bone morphology	23345	SYNE1	OMIM:618484
HP:0002813	Abnormality of limb bone morphology	1291	COL6A1	ORPHA:75840
HP:0002813	Abnormality of limb bone morphology	1292	COL6A2	ORPHA:75840
HP:0002813	Abnormality of limb bone morphology	1293	COL6A3	ORPHA:75840
HP:0002813	Abnormality of limb bone morphology	9839	ZEB2	ORPHA:261537
HP:0002813	Abnormality of limb bone morphology	9839	ZEB2	ORPHA:261552
HP:0002813	Abnormality of limb bone morphology	215	ABCD1	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	5979	RET	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	2668	GDNF	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	6720	SREBF1	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	1908	EDN3	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	223117	SEMA3D	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	538	ATP7A	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	1910	EDNRB	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	10512	SEMA3C	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	2064	ERBB2	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	2065	ERBB3	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	4902	NRTN	ORPHA:388
HP:0002813	Abnormality of limb bone morphology	10479	SLC9A6	OMIM:300243
HP:0002813	Abnormality of limb bone morphology	10479	SLC9A6	ORPHA:85278
HP:0002813	Abnormality of limb bone morphology	91754	NEK9	OMIM:617022
HP:0002813	Abnormality of limb bone morphology	5649	RELN	ORPHA:89844
HP:0002813	Abnormality of limb bone morphology	54820	NDE1	ORPHA:89844
HP:0002813	Abnormality of limb bone morphology	58	ACTA1	ORPHA:171430
HP:0002813	Abnormality of limb bone morphology	4703	NEB	ORPHA:171430
HP:0002813	Abnormality of limb bone morphology	4703	NEB	OMIM:619334
HP:0002813	Abnormality of limb bone morphology	131377	KLHL40	ORPHA:171430
HP:0002813	Abnormality of limb bone morphology	10324	KLHL41	ORPHA:171430
HP:0002813	Abnormality of limb bone morphology	56203	LMOD3	ORPHA:171430
HP:0002813	Abnormality of limb bone morphology	26227	PHGDH	OMIM:601815
HP:0002813	Abnormality of limb bone morphology	26227	PHGDH	ORPHA:79351
HP:0002813	Abnormality of limb bone morphology	84162	BLTP1	OMIM:617822
HP:0002813	Abnormality of limb bone morphology	202018	TAPT1	OMIM:616897
HP:0002813	Abnormality of limb bone morphology	2201	FBN2	OMIM:121050
HP:0002813	Abnormality of limb bone morphology	91869	RFT1	OMIM:612015
HP:0002813	Abnormality of limb bone morphology	2033	EP300	ORPHA:353284
HP:0002813	Abnormality of limb bone morphology	4621	MYH3	OMIM:618436
HP:0002813	Abnormality of limb bone morphology	4621	MYH3	OMIM:193700
HP:0002813	Abnormality of limb bone morphology	4621	MYH3	ORPHA:1147
HP:0002813	Abnormality of limb bone morphology	4621	MYH3	ORPHA:1146
HP:0002813	Abnormality of limb bone morphology	3897	L1CAM	ORPHA:306617
HP:0002813	Abnormality of limb bone morphology	3897	L1CAM	OMIM:303350
HP:0002813	Abnormality of limb bone morphology	3897	L1CAM	OMIM:307000
HP:0002813	Abnormality of limb bone morphology	3897	L1CAM	ORPHA:2182
HP:0002813	Abnormality of limb bone morphology	388015	RTL1	ORPHA:96334
HP:0002813	Abnormality of limb bone morphology	8788	DLK1	ORPHA:96334
HP:0002813	Abnormality of limb bone morphology	55384	MEG3	ORPHA:96334
HP:0002813	Abnormality of limb bone morphology	2067	ERCC1	OMIM:610758
HP:0002813	Abnormality of limb bone morphology	9179	AP4M1	OMIM:612936
HP:0002813	Abnormality of limb bone morphology	7169	TPM2	OMIM:108120
HP:0002813	Abnormality of limb bone morphology	7169	TPM2	ORPHA:1147
HP:0002813	Abnormality of limb bone morphology	7169	TPM2	ORPHA:1146
HP:0002813	Abnormality of limb bone morphology	126792	B3GALT6	ORPHA:536467
HP:0002813	Abnormality of limb bone morphology	50515	CHST11	OMIM:618167
HP:0002813	Abnormality of limb bone morphology	79868	ALG13	ORPHA:324422
HP:0002813	Abnormality of limb bone morphology	259232	NALCN	OMIM:616266
HP:0002813	Abnormality of limb bone morphology	259232	NALCN	ORPHA:1147
HP:0002813	Abnormality of limb bone morphology	259232	NALCN	ORPHA:1146
HP:0002813	Abnormality of limb bone morphology	23483	TGDS	OMIM:616145
HP:0002813	Abnormality of limb bone morphology	729920	CRPPA	OMIM:614643
HP:0002813	Abnormality of limb bone morphology	7136	TNNI2	ORPHA:1147
HP:0002813	Abnormality of limb bone morphology	7136	TNNI2	ORPHA:1146
HP:0002813	Abnormality of limb bone morphology	10273	STUB1	ORPHA:412057
HP:0002813	Abnormality of limb bone morphology	1387	CREBBP	ORPHA:353277
HP:0002813	Abnormality of limb bone morphology	4604	MYBPC1	ORPHA:1146
HP:0002813	Abnormality of limb bone morphology	10516	FBLN5	ORPHA:90348
HP:0002813	Abnormality of limb bone morphology	57211	ADGRG6	OMIM:616503
HP:0002813	Abnormality of limb bone morphology	9939	RBM8A	ORPHA:3320
HP:0002813	Abnormality of limb bone morphology	9939	RBM8A	OMIM:274000
HP:0002813	Abnormality of limb bone morphology	23299	BICD2	OMIM:618291
HP:0002813	Abnormality of limb bone morphology	10195	ALG3	OMIM:601110
HP:0002813	Abnormality of limb bone morphology	10943	MSL3	OMIM:301032
HP:0002813	Abnormality of limb bone morphology	3977	LIFR	OMIM:601559
HP:0002813	Abnormality of limb bone morphology	9427	ECEL1	OMIM:615065
HP:0002813	Abnormality of limb bone morphology	6999	TDO2	OMIM:600627
HP:0002813	Abnormality of limb bone morphology	84896	ATAD1	OMIM:618011
HP:0002813	Abnormality of limb bone morphology	2036	EPB41L1	OMIM:614257
HP:0002813	Abnormality of limb bone morphology	51002	TPRKB	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	84942	WDR73	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	55644	OSGEP	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	57122	NUP107	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	10785	WDR4	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	55746	NUP133	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	8270	LAGE3	ORPHA:2065
HP:0002813	Abnormality of limb bone morphology	8367	H4C5	OMIM:619950
HP:0002813	Abnormality of limb bone morphology	9853	RUSC2	OMIM:617773
HP:0002813	Abnormality of limb bone morphology	23019	CNOT1	OMIM:619033
HP:0002813	Abnormality of limb bone morphology	26128	KIFBP	OMIM:609460
HP:0002813	Abnormality of limb bone morphology	2972	BRF1	OMIM:616202
HP:0002813	Abnormality of limb bone morphology	2972	BRF1	ORPHA:444072
HP:0002813	Abnormality of limb bone morphology	56916	SMARCAD1	OMIM:129200
HP:0002813	Abnormality of limb bone morphology	56916	SMARCAD1	OMIM:181600
HP:0002813	Abnormality of limb bone morphology	9578	CDC42BPB	OMIM:619841
HP:0002813	Abnormality of limb bone morphology	3020	H3-3A	OMIM:619720
HP:0002813	Abnormality of limb bone morphology	170302	ARX	OMIM:300004
HP:0002813	Abnormality of limb bone morphology	3021	H3-3B	OMIM:619721
HP:0002813	Abnormality of limb bone morphology	10300	KATNB1	OMIM:616212
HP:0002813	Abnormality of limb bone morphology	2624	GATA2	OMIM:614038
HP:0002813	Abnormality of limb bone morphology	55904	KMT2E	OMIM:618512
HP:0002813	Abnormality of limb bone morphology	10978	CLP1	OMIM:615803
HP:0002813	Abnormality of limb bone morphology	55650	PIGV	OMIM:239300
HP:0002813	Abnormality of limb bone morphology	6335	SCN9A	ORPHA:970
HP:0002813	Abnormality of limb bone morphology	65125	WNK1	ORPHA:970
HP:0002813	Abnormality of limb bone morphology	54463	RETREG1	ORPHA:970
HP:0002813	Abnormality of limb bone morphology	547	KIF1A	ORPHA:970
HP:0002813	Abnormality of limb bone morphology	547	KIF1A	ORPHA:2836
HP:0002813	Abnormality of limb bone morphology	6595	SMARCA2	OMIM:619293
HP:0002813	Abnormality of limb bone morphology	80204	FBXO11	OMIM:618089
HP:0002813	Abnormality of limb bone morphology	113189	CHST14	ORPHA:2953
HP:0002813	Abnormality of limb bone morphology	29940	DSE	ORPHA:2953
HP:0002813	Abnormality of limb bone morphology	1889	ECE1	OMIM:613870
HP:0002813	Abnormality of limb bone morphology	9326	ZNHIT3	ORPHA:2836
HP:0002813	Abnormality of limb bone morphology	9326	ZNHIT3	OMIM:260565
HP:0002813	Abnormality of limb bone morphology	2770	GNAI1	OMIM:619854
HP:0002813	Abnormality of limb bone morphology	83550	GPR101	ORPHA:963
HP:0002813	Abnormality of limb bone morphology	9049	AIP	ORPHA:963
HP:0002813	Abnormality of limb bone morphology	157680	VPS13B	OMIM:216550
HP:0002813	Abnormality of limb bone morphology	157680	VPS13B	ORPHA:193
HP:0002813	Abnormality of limb bone morphology	2626	GATA4	ORPHA:251071
HP:0002813	Abnormality of limb bone morphology	84823	LMNB2	OMIM:619180
HP:0002813	Abnormality of limb bone morphology	9896	FIG4	ORPHA:3472
HP:0002813	Abnormality of limb bone morphology	9896	FIG4	OMIM:216340
HP:0002813	Abnormality of limb bone morphology	55697	VAC14	ORPHA:3472
HP:0002813	Abnormality of limb bone morphology	6792	CDKL5	OMIM:300672
HP:0002813	Abnormality of limb bone morphology	7025	NR2F1	ORPHA:401777
HP:0002813	Abnormality of limb bone morphology	7025	NR2F1	OMIM:615722
HP:0002813	Abnormality of limb bone morphology	253738	EBF3	OMIM:617330
HP:0002813	Abnormality of limb bone morphology	55699	IARS2	OMIM:616007
HP:0002813	Abnormality of limb bone morphology	8239	USP9X	ORPHA:480880
HP:0002813	Abnormality of limb bone morphology	8239	USP9X	OMIM:300968
HP:0002813	Abnormality of limb bone morphology	285175	UNC80	OMIM:616801
HP:0002813	Abnormality of limb bone morphology	79753	SNIP1	OMIM:614501
HP:0002813	Abnormality of limb bone morphology	6134	RPL10	ORPHA:459070
HP:0002813	Abnormality of limb bone morphology	6134	RPL10	OMIM:300998
HP:0002813	Abnormality of limb bone morphology	6134	RPL10	ORPHA:435938
HP:0002813	Abnormality of limb bone morphology	1859	DYRK1A	ORPHA:464311
HP:0002813	Abnormality of limb bone morphology	1859	DYRK1A	ORPHA:268261
HP:0002813	Abnormality of limb bone morphology	1303	COL12A1	ORPHA:536516
HP:0002813	Abnormality of limb bone morphology	51611	DPH5	OMIM:620070
HP:0002813	Abnormality of limb bone morphology	79813	EHMT1	ORPHA:261652
HP:0002813	Abnormality of limb bone morphology	58508	KMT2C	ORPHA:261652
HP:0002813	Abnormality of limb bone morphology	4094	MAF	ORPHA:1272
HP:0002813	Abnormality of limb bone morphology	4094	MAF	OMIM:601088
HP:0002813	Abnormality of limb bone morphology	7750	ZMYM2	OMIM:619522
HP:0002813	Abnormality of limb bone morphology	5594	MAPK1	OMIM:619087
HP:0002813	Abnormality of limb bone morphology	4849	CNOT3	OMIM:618672
HP:0002813	Abnormality of limb bone morphology	6942	TCF20	OMIM:618430
HP:0002813	Abnormality of limb bone morphology	81887	LAS1L	ORPHA:3459
HP:0002813	Abnormality of limb bone morphology	81887	LAS1L	OMIM:309585
HP:0002813	Abnormality of limb bone morphology	55869	HDAC8	ORPHA:3459
HP:0002813	Abnormality of limb bone morphology	7140	TNNT3	OMIM:618435
HP:0002813	Abnormality of limb bone morphology	6925	TCF4	OMIM:610954
HP:0002813	Abnormality of limb bone morphology	6925	TCF4	ORPHA:2896
HP:0002813	Abnormality of limb bone morphology	7030	TFE3	OMIM:301066
HP:0002813	Abnormality of limb bone morphology	546	ATRX	OMIM:309580
HP:0002813	Abnormality of limb bone morphology	546	ATRX	OMIM:301040
HP:0002813	Abnormality of limb bone morphology	84295	PHF6	ORPHA:127
HP:0002813	Abnormality of limb bone morphology	84295	PHF6	OMIM:301900
HP:0002813	Abnormality of limb bone morphology	91252	SLC39A13	ORPHA:157965
HP:0002813	Abnormality of limb bone morphology	91252	SLC39A13	OMIM:612350
HP:0002813	Abnormality of limb bone morphology	171023	ASXL1	OMIM:605039
HP:0002813	Abnormality of limb bone morphology	22907	DHX30	OMIM:617804
HP:0002813	Abnormality of limb bone morphology	9230	RAB11B	OMIM:617807
HP:0002813	Abnormality of limb bone morphology	5277	PIGA	OMIM:301072
HP:0002813	Abnormality of limb bone morphology	389827	MYMK	OMIM:254940
HP:0002813	Abnormality of limb bone morphology	10075	HUWE1	OMIM:309590
HP:0002813	Abnormality of limb bone morphology	9488	PIGB	OMIM:618580
HP:0002813	Abnormality of limb bone morphology	8243	SMC1A	OMIM:301044
HP:0002813	Abnormality of limb bone morphology	23013	SPEN	OMIM:619312
HP:0002813	Abnormality of limb bone morphology	56896	DPYSL5	OMIM:619435
HP:0002813	Abnormality of limb bone morphology	9698	PUM1	OMIM:617931
HP:0002813	Abnormality of limb bone morphology	23028	KDM1A	OMIM:616728
HP:0002813	Abnormality of limb bone morphology	23028	KDM1A	ORPHA:477993
HP:0002813	Abnormality of limb bone morphology	5575	PRKAR1B	OMIM:619680
HP:0002813	Abnormality of limb bone morphology	91179	SCARF2	OMIM:600920
HP:0002813	Abnormality of limb bone morphology	6492	SIM1	ORPHA:171829
HP:0002813	Abnormality of limb bone morphology	2782	GNB1	OMIM:616973
HP:0002813	Abnormality of limb bone morphology	4953	ODC1	ORPHA:544488
HP:0002813	Abnormality of limb bone morphology	998	CDC42	OMIM:616737
HP:0002813	Abnormality of limb bone morphology	998	CDC42	ORPHA:487796
HP:0002813	Abnormality of limb bone morphology	3097	HIVEP2	OMIM:616977
HP:0002813	Abnormality of limb bone morphology	4131	MAP1B	OMIM:618918
HP:0002813	Abnormality of limb bone morphology	56915	EXOSC5	OMIM:619576
HP:0002813	Abnormality of limb bone morphology	10588	MTHFS	OMIM:618367
HP:0002813	Abnormality of limb bone morphology	63035	BCORL1	OMIM:301029
HP:0002813	Abnormality of limb bone morphology	10265	IRX5	OMIM:611174
HP:0002813	Abnormality of limb bone morphology	1108	CHD4	OMIM:617159
HP:0002813	Abnormality of limb bone morphology	91137	SLC25A46	OMIM:616505
HP:0002813	Abnormality of limb bone morphology	8604	SLC25A12	OMIM:612949
HP:0002813	Abnormality of limb bone morphology	7703	PCGF2	OMIM:618371
HP:0002813	Abnormality of limb bone morphology	83696	TRAPPC9	ORPHA:352530
HP:0002813	Abnormality of limb bone morphology	92949	ADAMTSL1	ORPHA:521445
HP:0002813	Abnormality of limb bone morphology	54551	MAGEL2	OMIM:615547
HP:0002813	Abnormality of limb bone morphology	2707	GJB3	ORPHA:317
HP:0002813	Abnormality of limb bone morphology	2531	KDSR	ORPHA:317
HP:0002813	Abnormality of limb bone morphology	127534	GJB4	ORPHA:317
HP:0002813	Abnormality of limb bone morphology	9244	CRLF1	OMIM:272430
HP:0002813	Abnormality of limb bone morphology	8812	CCNK	OMIM:618147
HP:0002813	Abnormality of limb bone morphology	112858	TP53RK	OMIM:617730
HP:0002813	Abnormality of limb bone morphology	80036	TRPM3	OMIM:620224
HP:0002813	Abnormality of limb bone morphology	8936	WASF1	OMIM:618707
HP:0002813	Abnormality of limb bone morphology	8405	SPOP	OMIM:618829
HP:0002813	Abnormality of limb bone morphology	23630	KCNE5	ORPHA:86818
HP:0002813	Abnormality of limb bone morphology	2182	ACSL4	ORPHA:86818
HP:0002813	Abnormality of limb bone morphology	9949	AMMECR1	ORPHA:86818
HP:0002813	Abnormality of limb bone morphology	11198	SUPT16H	OMIM:619480
HP:0002813	Abnormality of limb bone morphology	23556	PIGN	ORPHA:280633
HP:0002813	Abnormality of limb bone morphology	23067	SETD1B	OMIM:619000
HP:0002813	Abnormality of limb bone morphology	23233	EXOC6B	OMIM:618395
HP:0002813	Abnormality of limb bone morphology	5075	PAX1	OMIM:615560
HP:0002813	Abnormality of limb bone morphology	55704	CCDC88A	OMIM:617507
HP:0002813	Abnormality of limb bone morphology	1376	CPT2	OMIM:608836
HP:0002813	Abnormality of limb bone morphology	8242	KDM5C	ORPHA:85279
HP:0002813	Abnormality of limb bone morphology	1315	COPB1	OMIM:619255
HP:0002813	Abnormality of limb bone morphology	51317	PHF21A	OMIM:618725
HP:0002813	Abnormality of limb bone morphology	1968	EIF2S3	ORPHA:85282
HP:0002813	Abnormality of limb bone morphology	5557	PRIM1	OMIM:620005
HP:0002813	Abnormality of limb bone morphology	1795	DOCK3	OMIM:618292
HP:0002813	Abnormality of limb bone morphology	3636	INPPL1	ORPHA:2746
HP:0002813	Abnormality of limb bone morphology	4654	MYOD1	OMIM:618975
HP:0002813	Abnormality of limb bone morphology	11342	RNF13	ORPHA:544503
HP:0002813	Abnormality of limb bone morphology	6197	RPS6KA3	OMIM:303600
HP:0002813	Abnormality of limb bone morphology	9791	PTDSS1	OMIM:151050
HP:0002813	Abnormality of limb bone morphology	2245	FGD1	OMIM:305400
HP:0002813	Abnormality of limb bone morphology	9759	HDAC4	OMIM:619797
HP:0002813	Abnormality of limb bone morphology	3756	KCNH1	OMIM:135500
HP:0002813	Abnormality of limb bone morphology	57479	PRR12	OMIM:619539
HP:0002813	Abnormality of limb bone morphology	6611	SMS	OMIM:309583
HP:0002813	Abnormality of limb bone morphology	673	BRAF	OMIM:115150
HP:0002813	Abnormality of limb bone morphology	91461	PKDCC	OMIM:618821
HP:0002813	Abnormality of limb bone morphology	92344	GORAB	OMIM:231070
HP:0002813	Abnormality of limb bone morphology	54499	TMCO1	OMIM:213980
HP:0002813	Abnormality of limb bone morphology	387733	IFITM5	OMIM:610967
HP:0002813	Abnormality of limb bone morphology	51633	OTUD6B	ORPHA:505237
HP:0002813	Abnormality of limb bone morphology	23114	NFASC	OMIM:618356
HP:0002813	Abnormality of limb bone morphology	1289	COL5A1	OMIM:130000
HP:0002813	Abnormality of limb bone morphology	1278	COL1A2	OMIM:617821
HP:0002813	Abnormality of limb bone morphology	427	ASAH1	OMIM:228000
HP:0002813	Abnormality of limb bone morphology	9373	PLAA	ORPHA:521426
HP:0002813	Abnormality of limb bone morphology	2783	GNB2	OMIM:619503
HP:0002813	Abnormality of limb bone morphology	3265	HRAS	OMIM:218040
HP:0002813	Abnormality of limb bone morphology	2200	FBN1	OMIM:616914
HP:0002813	Abnormality of limb bone morphology	121340	SP7	OMIM:613849
HP:0002813	Abnormality of limb bone morphology	3782	KCNN3	OMIM:618658
HP:0002813	Abnormality of limb bone morphology	5063	PAK3	OMIM:300558
HP:0002813	Abnormality of limb bone morphology	6228	RPS23	OMIM:617412
HP:0002813	Abnormality of limb bone morphology	23065	EMC1	ORPHA:480898
HP:0002813	Abnormality of limb bone morphology	23065	EMC1	OMIM:616875
HP:0002813	Abnormality of limb bone morphology	1105	CHD1	OMIM:617682
HP:0002813	Abnormality of limb bone morphology	94	ACVRL1	OMIM:600376
HP:0002813	Abnormality of limb bone morphology	6340	SCNN1G	ORPHA:60033
HP:0002813	Abnormality of limb bone morphology	1080	CFTR	ORPHA:60033
HP:0002813	Abnormality of limb bone morphology	6337	SCNN1A	ORPHA:60033
HP:0002813	Abnormality of limb bone morphology	6338	SCNN1B	ORPHA:60033
HP:0002813	Abnormality of limb bone morphology	3123	HLA-DRB1	ORPHA:747
HP:0002813	Abnormality of limb bone morphology	3123	HLA-DRB1	OMIM:181000
HP:0002813	Abnormality of limb bone morphology	6440	SFTPC	OMIM:610913
HP:0002813	Abnormality of limb bone morphology	6439	SFTPB	OMIM:265120
HP:0002813	Abnormality of limb bone morphology	2022	ENG	OMIM:187300
HP:0002813	Abnormality of limb bone morphology	653509	SFTPA1	OMIM:619611
HP:0002813	Abnormality of limb bone morphology	6578	SLCO2A1	OMIM:614441
HP:0002813	Abnormality of limb bone morphology	738	VPS51	OMIM:618606
HP:0002813	Abnormality of limb bone morphology	56244	BTNL2	OMIM:612387
HP:0002813	Abnormality of limb bone morphology	6794	STK11	OMIM:175200
HP:0002813	Abnormality of limb bone morphology	404672	GTF2H5	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	833	CARS1	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	7737	RNF113A	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	136647	MPLKIP	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	6897	TARS1	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	2071	ERCC3	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	2961	GTF2E2	ORPHA:33364
HP:0002813	Abnormality of limb bone morphology	21	ABCA3	OMIM:610921
HP:0002813	Abnormality of limb bone morphology	3858	KRT10	OMIM:609165
HP:0002813	Abnormality of limb bone morphology	25981	DNAH1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	115948	ODAD3	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	54768	HYDIN	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	352909	DNAAF3	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	27148	STK36	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	51314	NME8	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	92749	DRC1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	54970	TTC12	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	152110	NEK10	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	2302	FOXJ1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	221421	RSPH9	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	85478	CCDC65	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	55036	CCDC40	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	51364	ZMYND10	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	64446	DNAI2	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	6674	SPAG1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	83544	DNAL1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	89765	RSPH1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	83538	ODAD4	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	200373	CFAP221	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	374407	DNAJB13	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	55172	DNAAF2	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	161582	DNAAF4	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	2622	GAS8	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	23639	DNAAF11	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	27019	DNAI1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	345895	RSPH4A	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	54919	DNAAF5	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	6103	RPGR	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	388389	CCDC103	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	93233	ODAD1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	55130	ODAD2	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	1767	DNAH5	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	83861	RSPH3	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	345643	MCIDAS	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	56683	CFAP298	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	79925	SPEF2	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	10309	CCNO	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	115399	LRRC56	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	139212	DNAAF6	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	123872	DNAAF1	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	85016	CFAP300	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	339829	CCDC39	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	8701	DNAH11	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	1770	DNAH9	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	246176	GAS2L2	ORPHA:244
HP:0002813	Abnormality of limb bone morphology	1604	CD55	OMIM:226300
HP:0002813	Abnormality of limb bone morphology	10892	MALT1	OMIM:615468
HP:0002813	Abnormality of limb bone morphology	7317	UBA1	ORPHA:1145
HP:0002813	Abnormality of limb bone morphology	3868	KRT16	ORPHA:2199
HP:0002813	Abnormality of limb bone morphology	3857	KRT9	ORPHA:2199
HP:0002813	Abnormality of limb bone morphology	3848	KRT1	ORPHA:2199
HP:0002813	Abnormality of limb bone morphology	3861	KRT14	ORPHA:69087
HP:0002813	Abnormality of limb bone morphology	4323	MMP14	ORPHA:371428
HP:0002813	Abnormality of limb bone morphology	4323	MMP14	OMIM:277950
HP:0002813	Abnormality of limb bone morphology	79796	ALG9	ORPHA:79328
HP:0002813	Abnormality of limb bone morphology	3955	LFNG	OMIM:609813
HP:0002813	Abnormality of limb bone morphology	10525	HYOU1	OMIM:233600
HP:0002813	Abnormality of limb bone morphology	1499	CTNNB1	OMIM:615075
HP:0002813	Abnormality of limb bone morphology	9181	ARHGEF2	OMIM:617523
HP:0002813	Abnormality of limb bone morphology	3248	HPGD	ORPHA:217059
HP:0002813	Abnormality of limb bone morphology	3736	KCNA1	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	9091	PIGQ	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	2775	GNAO1	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	81603	TRIM8	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	2902	GRIN1	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	79751	SLC25A22	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	150094	SIK1	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	8573	CASK	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	23312	DMXL2	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	2917	GRM7	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	11284	PNKP	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	6326	SCN2A	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	51227	PIGP	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	6324	SCN1B	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	4761	NEUROD2	ORPHA:1934
HP:0002813	Abnormality of limb bone morphology	65260	COA7	OMIM:618387
HP:0002813	Abnormality of limb bone morphology	127833	SYT2	OMIM:616040
HP:0002813	Abnormality of limb bone morphology	112	ADCY6	OMIM:616287
HP:0002813	Abnormality of limb bone morphology	7415	VCP	ORPHA:435387
HP:0002813	Abnormality of limb bone morphology	7415	VCP	OMIM:616687
HP:0002813	Abnormality of limb bone morphology	9927	MFN2	OMIM:609260
HP:0002813	Abnormality of limb bone morphology	50717	DCAF8	OMIM:610100
HP:0002813	Abnormality of limb bone morphology	2617	GARS1	ORPHA:139536
HP:0002813	Abnormality of limb bone morphology	2617	GARS1	OMIM:600794
HP:0002813	Abnormality of limb bone morphology	2617	GARS1	OMIM:601472
HP:0002813	Abnormality of limb bone morphology	65055	REEP1	ORPHA:139536
HP:0002813	Abnormality of limb bone morphology	7879	RAB7A	OMIM:600882
HP:0002813	Abnormality of limb bone morphology	5375	PMP2	OMIM:618279
HP:0002813	Abnormality of limb bone morphology	23095	KIF1B	OMIM:118210
HP:0002813	Abnormality of limb bone morphology	8566	PDXK	OMIM:618511
HP:0002813	Abnormality of limb bone morphology	400916	CHCHD10	OMIM:615048
HP:0002813	Abnormality of limb bone morphology	3035	HARS1	ORPHA:488333
HP:0002813	Abnormality of limb bone morphology	3035	HARS1	OMIM:616625
HP:0002813	Abnormality of limb bone morphology	90678	LRSAM1	OMIM:614436
HP:0002813	Abnormality of limb bone morphology	11261	CHP1	OMIM:618438
HP:0002813	Abnormality of limb bone morphology	3710	ITPR3	OMIM:620111
HP:0002813	Abnormality of limb bone morphology	10280	SIGMAR1	OMIM:605726
HP:0002813	Abnormality of limb bone morphology	4358	MPV17	OMIM:618400
HP:0002813	Abnormality of limb bone morphology	57449	PLEKHG5	OMIM:615376
HP:0002813	Abnormality of limb bone morphology	79628	SH3TC2	OMIM:601596
HP:0002813	Abnormality of limb bone morphology	79628	SH3TC2	ORPHA:99949
HP:0002813	Abnormality of limb bone morphology	59345	GNB4	OMIM:615185
HP:0002813	Abnormality of limb bone morphology	64423	INF2	OMIM:614455
HP:0002813	Abnormality of limb bone morphology	16	AARS1	OMIM:613287
HP:0002813	Abnormality of limb bone morphology	168667	BMPER	OMIM:608022
HP:0002813	Abnormality of limb bone morphology	8729	GBF1	OMIM:606483
HP:0002813	Abnormality of limb bone morphology	26235	FBXL4	OMIM:615471
HP:0002813	Abnormality of limb bone morphology	22854	NTNG1	ORPHA:3095
HP:0002813	Abnormality of limb bone morphology	9568	GABBR2	ORPHA:3095
HP:0002813	Abnormality of limb bone morphology	9568	GABBR2	OMIM:617903
HP:0002813	Abnormality of limb bone morphology	4948	OCA2	ORPHA:177904
HP:0002813	Abnormality of limb bone morphology	4948	OCA2	ORPHA:177901
HP:0002813	Abnormality of limb bone morphology	4948	OCA2	ORPHA:98754
HP:0002813	Abnormality of limb bone morphology	2590	GALNT2	OMIM:618885
HP:0002813	Abnormality of limb bone morphology	3064	HTT	OMIM:617435
HP:0002813	Abnormality of limb bone morphology	6045	RNF2	OMIM:619460
HP:0002813	Abnormality of limb bone morphology	3800	KIF5C	OMIM:615282
HP:0002813	Abnormality of limb bone morphology	9130	FAM50A	OMIM:300261
HP:0002813	Abnormality of limb bone morphology	6567	SLC16A2	OMIM:300523
HP:0002813	Abnormality of limb bone morphology	27031	NPHP3	OMIM:267010
HP:0002813	Abnormality of limb bone morphology	242	ALOX12B	OMIM:242100
HP:0002813	Abnormality of limb bone morphology	59344	ALOXE3	OMIM:242100
HP:0002813	Abnormality of limb bone morphology	5896	RAG1	ORPHA:39041
HP:0002813	Abnormality of limb bone morphology	5897	RAG2	ORPHA:39041
HP:0002813	Abnormality of limb bone morphology	64421	DCLRE1C	ORPHA:39041
HP:0002813	Abnormality of limb bone morphology	3575	IL7R	ORPHA:39041
HP:0002813	Abnormality of limb bone morphology	3561	IL2RG	ORPHA:39041
HP:0002813	Abnormality of limb bone morphology	3039	HBA1	ORPHA:98791
HP:0002813	Abnormality of limb bone morphology	3040	HBA2	ORPHA:98791
HP:0002813	Abnormality of limb bone morphology	23265	EXOC7	OMIM:619072
HP:0002813	Abnormality of limb bone morphology	9928	KIF14	OMIM:616258
HP:0002813	Abnormality of limb bone morphology	2733	GLE1	OMIM:611890
HP:0002813	Abnormality of limb bone morphology	55681	SCYL2	ORPHA:1143
HP:0002813	Abnormality of limb bone morphology	55681	SCYL2	OMIM:618766
HP:0002813	Abnormality of limb bone morphology	84570	COL25A1	ORPHA:1143
HP:0002813	Abnormality of limb bone morphology	57222	ERGIC1	ORPHA:1143
HP:0002813	Abnormality of limb bone morphology	91647	ATPAF2	OMIM:604273
HP:0002813	Abnormality of limb bone morphology	5828	PEX2	OMIM:614866
HP:0002813	Abnormality of limb bone morphology	80232	WDR26	ORPHA:513456
HP:0002813	Abnormality of limb bone morphology	1718	DHCR24	ORPHA:35107
HP:0002813	Abnormality of limb bone morphology	118987	PDZD8	OMIM:620021
HP:0002813	Abnormality of limb bone morphology	79228	THOC6	ORPHA:363444
HP:0002813	Abnormality of limb bone morphology	6647	SOD1	OMIM:618598
HP:0002813	Abnormality of limb bone morphology	6536	SLC6A9	OMIM:617301
HP:0002813	Abnormality of limb bone morphology	54916	TMEM260	OMIM:617478
HP:0002813	Abnormality of limb bone morphology	26173	INTS1	OMIM:618571
HP:0002813	Abnormality of limb bone morphology	55656	INTS8	OMIM:618572
HP:0002813	Abnormality of limb bone morphology	529	ATP6V1E1	OMIM:617402
HP:0002813	Abnormality of limb bone morphology	10159	ATP6AP2	ORPHA:93952
HP:0002813	Abnormality of limb bone morphology	8425	LTBP4	OMIM:613177
HP:0002813	Abnormality of limb bone morphology	1349	COX7B	OMIM:300887
HP:0002813	Abnormality of limb bone morphology	6049	RNF6	ORPHA:99977
HP:0002813	Abnormality of limb bone morphology	51741	WWOX	ORPHA:99977
HP:0002813	Abnormality of limb bone morphology	9940	DLEC1	ORPHA:99977
HP:0002813	Abnormality of limb bone morphology	2643	GCH1	ORPHA:98808
HP:0002813	Abnormality of limb bone morphology	4929	NR4A2	ORPHA:98808
HP:0002813	Abnormality of limb bone morphology	3615	IMPDH2	ORPHA:98808
HP:0002813	Abnormality of limb bone morphology	3315	HSPB1	OMIM:608634
HP:0002813	Abnormality of limb bone morphology	26353	HSPB8	OMIM:158590
HP:0002813	Abnormality of limb bone morphology	4897	NRCAM	OMIM:619833
HP:0002813	Abnormality of limb bone morphology	2517	FUCA1	OMIM:230000
HP:0002813	Abnormality of limb bone morphology	2335	FN1	OMIM:184255
HP:0002813	Abnormality of limb bone morphology	2335	FN1	ORPHA:93315
HP:0002813	Abnormality of limb bone morphology	65992	DDRGK1	OMIM:602557
HP:0002813	Abnormality of limb bone morphology	755	CFAP410	OMIM:602271
HP:0002813	Abnormality of limb bone morphology	5176	SERPINF1	OMIM:613982
HP:0002813	Abnormality of limb bone morphology	10216	PRG4	ORPHA:2848
HP:0002813	Abnormality of limb bone morphology	10216	PRG4	OMIM:208250
HP:0002813	Abnormality of limb bone morphology	60681	FKBP10	OMIM:259450
HP:0002813	Abnormality of limb bone morphology	60681	FKBP10	OMIM:610968
HP:0002813	Abnormality of limb bone morphology	1299	COL9A3	ORPHA:166002
HP:0002813	Abnormality of limb bone morphology	11014	KDELR2	OMIM:619131
HP:0002813	Abnormality of limb bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002813	Abnormality of limb bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0002813	Abnormality of limb bone morphology	10491	CRTAP	OMIM:610682
HP:0002813	Abnormality of limb bone morphology	6137	RPL13	OMIM:618728
HP:0002813	Abnormality of limb bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0002813	Abnormality of limb bone morphology	5830	PEX5	OMIM:616716
HP:0002813	Abnormality of limb bone morphology	1277	COL1A1	ORPHA:1899
HP:0002813	Abnormality of limb bone morphology	10082	GPC6	ORPHA:93329
HP:0002813	Abnormality of limb bone morphology	7040	TGFB1	ORPHA:1328
HP:0002813	Abnormality of limb bone morphology	6916	TBXAS1	ORPHA:1802
HP:0002813	Abnormality of limb bone morphology	2717	GLA	ORPHA:324
HP:0002813	Abnormality of limb bone morphology	1497	CTNS	OMIM:219800
HP:0002813	Abnormality of limb bone morphology	7421	VDR	ORPHA:93160
HP:0002813	Abnormality of limb bone morphology	51256	TBC1D7	OMIM:248000
HP:0002813	Abnormality of limb bone morphology	7360	UGP2	OMIM:618744
HP:0002813	Abnormality of limb bone morphology	4125	MAN2B1	ORPHA:309282
HP:0002813	Abnormality of limb bone morphology	1073	CFL2	ORPHA:171436
HP:0002813	Abnormality of limb bone morphology	815	CAMK2A	OMIM:617798
HP:0002813	Abnormality of limb bone morphology	10381	TUBB3	ORPHA:300570
HP:0002813	Abnormality of limb bone morphology	83480	PUS3	ORPHA:488627
HP:0002813	Abnormality of limb bone morphology	4763	NF1	ORPHA:363700
HP:0002813	Abnormality of limb bone morphology	4763	NF1	OMIM:162200
HP:0002813	Abnormality of limb bone morphology	3425	IDUA	OMIM:607016
HP:0002813	Abnormality of limb bone morphology	1588	CYP19A1	ORPHA:91
HP:0002813	Abnormality of limb bone morphology	9653	HS2ST1	OMIM:619194
HP:0002813	Abnormality of limb bone morphology	3043	HBB	ORPHA:231214
HP:0002813	Abnormality of limb bone morphology	3043	HBB	ORPHA:231226
HP:0002813	Abnormality of limb bone morphology	9394	HS6ST1	OMIM:614880
HP:0002813	Abnormality of limb bone morphology	84695	LOXL3	ORPHA:250984
HP:0002813	Abnormality of limb bone morphology	8600	TNFSF11	OMIM:259710
HP:0002813	Abnormality of limb bone morphology	10466	COG5	ORPHA:263487
HP:0002813	Abnormality of limb bone morphology	8882	ZPR1	OMIM:619321
HP:0002813	Abnormality of limb bone morphology	137682	NDUFAF6	OMIM:618913
HP:0002813	Abnormality of limb bone morphology	153642	ARSK	OMIM:619698
HP:0002813	Abnormality of limb bone morphology	84068	SLC10A7	OMIM:618363
HP:0002813	Abnormality of limb bone morphology	5605	MAP2K2	ORPHA:1340
HP:0002813	Abnormality of limb bone morphology	54681	P4HTM	OMIM:618493
HP:0002813	Abnormality of limb bone morphology	6424	SFRP4	OMIM:265900
HP:0002813	Abnormality of limb bone morphology	2588	GALNS	OMIM:253000
HP:0002813	Abnormality of limb bone morphology	80152	CENPT	OMIM:618702
HP:0002813	Abnormality of limb bone morphology	2990	GUSB	OMIM:253220
HP:0002813	Abnormality of limb bone morphology	8139	GAN	ORPHA:643
HP:0002813	Abnormality of limb bone morphology	80169	CTC1	OMIM:612199
HP:0002813	Abnormality of limb bone morphology	871	SERPINH1	OMIM:613848
HP:0002813	Abnormality of limb bone morphology	284403	WDR62	OMIM:604317
HP:0002813	Abnormality of limb bone morphology	5442	POLRMT	OMIM:619743
HP:0002813	Abnormality of limb bone morphology	4091	SMAD6	OMIM:179300
HP:0002813	Abnormality of limb bone morphology	78989	COLEC11	OMIM:265050
HP:0002813	Abnormality of limb bone morphology	78989	COLEC11	ORPHA:293843
HP:0002813	Abnormality of limb bone morphology	8074	FGF23	ORPHA:89937
HP:0002813	Abnormality of limb bone morphology	1962	EHHADH	OMIM:615605
HP:0002813	Abnormality of limb bone morphology	6569	SLC34A1	ORPHA:157215
HP:0002813	Abnormality of limb bone morphology	25885	POLR1A	OMIM:616462
HP:0002813	Abnormality of limb bone morphology	284086	NEK8	OMIM:615415
HP:0002813	Abnormality of limb bone morphology	166929	SGMS2	OMIM:126550
HP:0002813	Abnormality of limb bone morphology	55151	TMEM38B	OMIM:615066
HP:0002813	Abnormality of limb bone morphology	8218	CLTCL1	ORPHA:453510
HP:0002813	Abnormality of limb bone morphology	1576	CYP3A4	OMIM:619073
HP:0002813	Abnormality of limb bone morphology	28962	OSTM1	OMIM:259720
HP:0002813	Abnormality of limb bone morphology	286053	NSMCE2	OMIM:617253
HP:0002813	Abnormality of limb bone morphology	65082	VPS33A	OMIM:617303
HP:0002813	Abnormality of limb bone morphology	3417	IDH1	ORPHA:99646
HP:0002813	Abnormality of limb bone morphology	51604	PIGT	OMIM:615398
HP:0002813	Abnormality of limb bone morphology	567	B2M	OMIM:241600
HP:0002813	Abnormality of limb bone morphology	1184	CLCN5	OMIM:300554
HP:0002813	Abnormality of limb bone morphology	1184	CLCN5	OMIM:300009
HP:0002813	Abnormality of limb bone morphology	142680	SLC34A3	OMIM:241530
HP:0002813	Abnormality of limb bone morphology	9663	LPIN2	ORPHA:77297
HP:0002813	Abnormality of limb bone morphology	26503	SLC17A5	OMIM:269920
HP:0002813	Abnormality of limb bone morphology	846	CASR	OMIM:239200
HP:0002813	Abnormality of limb bone morphology	1436	CSF1R	OMIM:618476
HP:0002813	Abnormality of limb bone morphology	760	CA2	OMIM:259730
HP:0002813	Abnormality of limb bone morphology	4233	MET	OMIM:607278
HP:0002813	Abnormality of limb bone morphology	55148	UBR7	OMIM:619189
HP:0002813	Abnormality of limb bone morphology	1290	COL5A2	ORPHA:287
HP:0002813	Abnormality of limb bone morphology	4041	LRP5	ORPHA:2788
HP:0002813	Abnormality of limb bone morphology	64131	XYLT1	ORPHA:1425
HP:0002813	Abnormality of limb bone morphology	124583	CANT1	ORPHA:1425
HP:0002813	Abnormality of limb bone morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002813	Abnormality of limb bone morphology	59341	TRPV4	ORPHA:86820
HP:0002813	Abnormality of limb bone morphology	1280	COL2A1	ORPHA:86820
HP:0002813	Abnormality of limb bone morphology	3549	IHH	ORPHA:63446
HP:0002813	Abnormality of limb bone morphology	6473	SHOX	OMIM:127300
HP:0002813	Abnormality of limb bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0002813	Abnormality of limb bone morphology	54808	DYM	ORPHA:239
HP:0002813	Abnormality of limb bone morphology	84572	GNPTG	OMIM:252605
HP:0002813	Abnormality of limb bone morphology	340419	RSPO2	OMIM:618022
HP:0002813	Abnormality of limb bone morphology	4692	NDN	ORPHA:177910
HP:0002813	Abnormality of limb bone morphology	340533	NEXMIF	OMIM:300912
HP:0002813	Abnormality of limb bone morphology	1139	CHRNA7	ORPHA:199318
HP:0002813	Abnormality of limb bone morphology	1139	CHRNA7	OMIM:612001
HP:0002813	Abnormality of limb bone morphology	2132	EXT2	OMIM:616682
HP:0002813	Abnormality of limb bone morphology	23135	KDM6B	OMIM:618505
HP:0002813	Abnormality of limb bone morphology	6659	SOX4	OMIM:618506
HP:0002813	Abnormality of limb bone morphology	1947	EFNB1	ORPHA:1520
HP:0002813	Abnormality of limb bone morphology	1947	EFNB1	OMIM:304110
HP:0002813	Abnormality of limb bone morphology	4010	LMX1B	ORPHA:2614
HP:0002813	Abnormality of limb bone morphology	4010	LMX1B	OMIM:161200
HP:0002813	Abnormality of limb bone morphology	10054	UBA2	OMIM:619959
HP:0002813	Abnormality of limb bone morphology	51126	NAA20	OMIM:619717
HP:0002813	Abnormality of limb bone morphology	9820	CUL7	ORPHA:2616
HP:0002813	Abnormality of limb bone morphology	9820	CUL7	OMIM:273750
HP:0002813	Abnormality of limb bone morphology	23363	OBSL1	ORPHA:2616
HP:0002813	Abnormality of limb bone morphology	83987	CCDC8	ORPHA:2616
HP:0002813	Abnormality of limb bone morphology	83987	CCDC8	OMIM:614205
HP:0002813	Abnormality of limb bone morphology	7021	TFAP2B	OMIM:169100
HP:0002813	Abnormality of limb bone morphology	7021	TFAP2B	ORPHA:46627
HP:0002813	Abnormality of limb bone morphology	7021	TFAP2B	OMIM:617035
HP:0002813	Abnormality of limb bone morphology	3481	IGF2	ORPHA:231140
HP:0002813	Abnormality of limb bone morphology	3481	IGF2	ORPHA:231144
HP:0002813	Abnormality of limb bone morphology	3481	IGF2	OMIM:616489
HP:0002813	Abnormality of limb bone morphology	3481	IGF2	OMIM:180860
HP:0002813	Abnormality of limb bone morphology	3481	IGF2	ORPHA:397590
HP:0002813	Abnormality of limb bone morphology	283120	H19	ORPHA:231140
HP:0002813	Abnormality of limb bone morphology	283120	H19	ORPHA:231144
HP:0002813	Abnormality of limb bone morphology	197131	UBR1	OMIM:243800
HP:0002813	Abnormality of limb bone morphology	4286	MITF	OMIM:617306
HP:0002813	Abnormality of limb bone morphology	23384	SPECC1L	ORPHA:1519
HP:0002813	Abnormality of limb bone morphology	51098	IFT52	ORPHA:1515
HP:0002813	Abnormality of limb bone morphology	55764	IFT122	ORPHA:1515
HP:0002813	Abnormality of limb bone morphology	57728	WDR19	ORPHA:1515
HP:0002813	Abnormality of limb bone morphology	55636	CHD7	ORPHA:138
HP:0002813	Abnormality of limb bone morphology	9723	SEMA3E	ORPHA:138
HP:0002813	Abnormality of limb bone morphology	90	ACVR1	OMIM:135100
HP:0002813	Abnormality of limb bone morphology	90	ACVR1	ORPHA:337
HP:0002813	Abnormality of limb bone morphology	3190	HNRNPK	OMIM:616580
HP:0002813	Abnormality of limb bone morphology	10606	PAICS	OMIM:619859
HP:0002813	Abnormality of limb bone morphology	1009	CDH11	OMIM:619736
HP:0002813	Abnormality of limb bone morphology	652	BMP4	OMIM:607932
HP:0002813	Abnormality of limb bone morphology	1301	COL11A1	OMIM:228520
HP:0002813	Abnormality of limb bone morphology	1301	COL11A1	OMIM:154780
HP:0002813	Abnormality of limb bone morphology	7291	TWIST1	OMIM:101400
HP:0002813	Abnormality of limb bone morphology	7291	TWIST1	ORPHA:794
HP:0002813	Abnormality of limb bone morphology	3981	LIG4	ORPHA:235
HP:0002813	Abnormality of limb bone morphology	3981	LIG4	ORPHA:99812
HP:0002813	Abnormality of limb bone morphology	3981	LIG4	OMIM:606593
HP:0002813	Abnormality of limb bone morphology	1182	CLCN3	OMIM:619512
HP:0002813	Abnormality of limb bone morphology	85301	COL27A1	OMIM:615155
HP:0002813	Abnormality of limb bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002813	Abnormality of limb bone morphology	5048	PAFAH1B1	ORPHA:531
HP:0002813	Abnormality of limb bone morphology	7531	YWHAE	ORPHA:217385
HP:0002813	Abnormality of limb bone morphology	7531	YWHAE	ORPHA:531
HP:0002813	Abnormality of limb bone morphology	2121	EVC	OMIM:193530
HP:0002813	Abnormality of limb bone morphology	2121	EVC	ORPHA:952
HP:0002813	Abnormality of limb bone morphology	132884	EVC2	OMIM:193530
HP:0002813	Abnormality of limb bone morphology	132884	EVC2	ORPHA:952
HP:0002813	Abnormality of limb bone morphology	8364	H4C3	OMIM:619758
HP:0002813	Abnormality of limb bone morphology	5590	PRKCZ	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	2563	GABRD	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	8510	MMP23B	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	7798	LUZP1	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	6497	SKI	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	10630	PDPN	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	3339	HSPG2	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	10277	UBE4B	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	8514	KCNAB2	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	473	RERE	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	473	RERE	OMIM:616975
HP:0002813	Abnormality of limb bone morphology	63976	PRDM16	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	54897	CASZ1	ORPHA:1606
HP:0002813	Abnormality of limb bone morphology	641	BLM	OMIM:210900
HP:0002813	Abnormality of limb bone morphology	57492	ARID1B	ORPHA:251056
HP:0002813	Abnormality of limb bone morphology	57492	ARID1B	OMIM:135900
HP:0002813	Abnormality of limb bone morphology	63895	PIEZO2	ORPHA:376
HP:0002813	Abnormality of limb bone morphology	23314	SATB2	ORPHA:576283
HP:0002813	Abnormality of limb bone morphology	23314	SATB2	ORPHA:251028
HP:0002813	Abnormality of limb bone morphology	23314	SATB2	ORPHA:251019
HP:0002813	Abnormality of limb bone morphology	2239	GPC4	ORPHA:373
HP:0002813	Abnormality of limb bone morphology	2239	GPC4	ORPHA:2662
HP:0002813	Abnormality of limb bone morphology	2719	GPC3	ORPHA:373
HP:0002813	Abnormality of limb bone morphology	23162	MAPK8IP3	OMIM:618443
HP:0002813	Abnormality of limb bone morphology	2317	FLNB	OMIM:272460
HP:0002813	Abnormality of limb bone morphology	79087	ALG12	ORPHA:79324
HP:0002813	Abnormality of limb bone morphology	26100	WIPI2	OMIM:618453
HP:0002813	Abnormality of limb bone morphology	10533	ATG7	OMIM:619422
HP:0002813	Abnormality of limb bone morphology	8295	TRRAP	OMIM:618454
HP:0002813	Abnormality of limb bone morphology	9742	IFT140	OMIM:266920
HP:0002813	Abnormality of limb bone morphology	7227	TRPS1	ORPHA:77258
HP:0002813	Abnormality of limb bone morphology	3479	IGF1	ORPHA:73272
HP:0002813	Abnormality of limb bone morphology	3479	IGF1	OMIM:608747
HP:0002813	Abnormality of limb bone morphology	6477	SIAH1	OMIM:619314
HP:0002813	Abnormality of limb bone morphology	8473	OGT	OMIM:300997
HP:0002813	Abnormality of limb bone morphology	1798	DPAGT1	OMIM:608093
HP:0002813	Abnormality of limb bone morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002813	Abnormality of limb bone morphology	100151683	RNU4ATAC	OMIM:226960
HP:0002813	Abnormality of limb bone morphology	100151683	RNU4ATAC	OMIM:616651
HP:0002813	Abnormality of limb bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0002813	Abnormality of limb bone morphology	117581	TWIST2	OMIM:200110
HP:0002813	Abnormality of limb bone morphology	117581	TWIST2	OMIM:209885
HP:0002813	Abnormality of limb bone morphology	23030	KDM4B	OMIM:619320
HP:0002813	Abnormality of limb bone morphology	9126	SMC3	OMIM:610759
HP:0002813	Abnormality of limb bone morphology	9126	SMC3	ORPHA:199
HP:0002813	Abnormality of limb bone morphology	1725	DHPS	OMIM:618480
HP:0002813	Abnormality of limb bone morphology	55777	MBD5	OMIM:156200
HP:0002813	Abnormality of limb bone morphology	55777	MBD5	ORPHA:228402
HP:0002813	Abnormality of limb bone morphology	5980	REV3L	ORPHA:570
HP:0002813	Abnormality of limb bone morphology	23129	PLXND1	ORPHA:570
HP:0002813	Abnormality of limb bone morphology	4784	NFIX	OMIM:602535
HP:0002813	Abnormality of limb bone morphology	4998	ORC1	OMIM:224690
HP:0002813	Abnormality of limb bone morphology	4998	ORC1	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	4052	LTBP1	OMIM:619451
HP:0002813	Abnormality of limb bone morphology	8260	NAA10	OMIM:300855
HP:0002813	Abnormality of limb bone morphology	8260	NAA10	ORPHA:568
HP:0002813	Abnormality of limb bone morphology	9496	TBX4	ORPHA:261279
HP:0002813	Abnormality of limb bone morphology	8091	HMGA2	ORPHA:94063
HP:0002813	Abnormality of limb bone morphology	8091	HMGA2	ORPHA:397590
HP:0002813	Abnormality of limb bone morphology	23592	LEMD3	ORPHA:94063
HP:0002813	Abnormality of limb bone morphology	5283	PIGH	OMIM:618010
HP:0002813	Abnormality of limb bone morphology	50801	KCNK4	OMIM:618381
HP:0002813	Abnormality of limb bone morphology	57003	CCDC47	OMIM:618268
HP:0002813	Abnormality of limb bone morphology	5977	DPF2	OMIM:618027
HP:0002813	Abnormality of limb bone morphology	94005	PIGS	OMIM:618143
HP:0002813	Abnormality of limb bone morphology	145173	B3GLCT	OMIM:261540
HP:0002813	Abnormality of limb bone morphology	145173	B3GLCT	ORPHA:709
HP:0002813	Abnormality of limb bone morphology	285590	SH3PXD2B	ORPHA:137834
HP:0002813	Abnormality of limb bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0002813	Abnormality of limb bone morphology	57465	TBC1D24	ORPHA:79500
HP:0002813	Abnormality of limb bone morphology	57465	TBC1D24	OMIM:220500
HP:0002813	Abnormality of limb bone morphology	5728	PTEN	ORPHA:744
HP:0002813	Abnormality of limb bone morphology	207	AKT1	ORPHA:744
HP:0002813	Abnormality of limb bone morphology	2887	GRB10	ORPHA:96182
HP:0002813	Abnormality of limb bone morphology	1457	CSNK2A1	OMIM:617062
HP:0002813	Abnormality of limb bone morphology	51715	RAB23	OMIM:201000
HP:0002813	Abnormality of limb bone morphology	28952	CCDC22	OMIM:300963
HP:0002813	Abnormality of limb bone morphology	90416	CCDC32	OMIM:619123
HP:0002813	Abnormality of limb bone morphology	8450	CUL4B	ORPHA:85293
HP:0002813	Abnormality of limb bone morphology	55717	WDR11	OMIM:620237
HP:0002813	Abnormality of limb bone morphology	118924	FRA10AC1	OMIM:620113
HP:0002813	Abnormality of limb bone morphology	22995	CEP152	OMIM:613823
HP:0002813	Abnormality of limb bone morphology	22995	CEP152	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	3090	HIC1	ORPHA:531
HP:0002813	Abnormality of limb bone morphology	10436	EMG1	OMIM:211180
HP:0002813	Abnormality of limb bone morphology	10436	EMG1	ORPHA:1270
HP:0002813	Abnormality of limb bone morphology	10084	PQBP1	OMIM:309500
HP:0002813	Abnormality of limb bone morphology	5745	PTH1R	OMIM:156400
HP:0002813	Abnormality of limb bone morphology	89970	RSPRY1	ORPHA:457395
HP:0002813	Abnormality of limb bone morphology	9487	PIGL	OMIM:280000
HP:0002813	Abnormality of limb bone morphology	22800	RRAS2	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	867	CBL	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	8216	LZTR1	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	6016	RIT1	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	6237	RRAS	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	5894	RAF1	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	22808	MRAS	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	3845	KRAS	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	200734	SPRED2	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	4893	NRAS	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	6654	SOS1	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	6655	SOS2	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	5781	PTPN11	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	5922	RASA2	ORPHA:648
HP:0002813	Abnormality of limb bone morphology	23522	KAT6B	ORPHA:3047
HP:0002813	Abnormality of limb bone morphology	79023	NUP37	OMIM:618179
HP:0002813	Abnormality of limb bone morphology	375056	MIA3	OMIM:619269
HP:0002813	Abnormality of limb bone morphology	27161	AGO2	OMIM:619149
HP:0002813	Abnormality of limb bone morphology	5567	PRKACB	OMIM:619143
HP:0002813	Abnormality of limb bone morphology	221927	BRAT1	OMIM:618056
HP:0002813	Abnormality of limb bone morphology	8823	FGF16	OMIM:309630
HP:0002813	Abnormality of limb bone morphology	5518	PPP2R1A	ORPHA:457284
HP:0002813	Abnormality of limb bone morphology	161742	SPRED1	ORPHA:137605
HP:0002813	Abnormality of limb bone morphology	7337	UBE3A	ORPHA:238446
HP:0002813	Abnormality of limb bone morphology	1832	DSP	ORPHA:158687
HP:0002813	Abnormality of limb bone morphology	1832	DSP	OMIM:609638
HP:0002813	Abnormality of limb bone morphology	3728	JUP	ORPHA:158687
HP:0002813	Abnormality of limb bone morphology	23241	PACS2	OMIM:618067
HP:0002813	Abnormality of limb bone morphology	7518	XRCC4	ORPHA:99812
HP:0002813	Abnormality of limb bone morphology	3209	HOXA13	OMIM:140000
HP:0002813	Abnormality of limb bone morphology	3209	HOXA13	ORPHA:2438
HP:0002813	Abnormality of limb bone morphology	613	BCR	ORPHA:261330
HP:0002813	Abnormality of limb bone morphology	1399	CRKL	ORPHA:261330
HP:0002813	Abnormality of limb bone morphology	89910	UBE3B	OMIM:244450
HP:0002813	Abnormality of limb bone morphology	2314	FLII	ORPHA:819
HP:0002813	Abnormality of limb bone morphology	23096	IQSEC2	ORPHA:819
HP:0002813	Abnormality of limb bone morphology	10522	DEAF1	ORPHA:819
HP:0002813	Abnormality of limb bone morphology	150468	CKAP2L	ORPHA:3255
HP:0002813	Abnormality of limb bone morphology	9184	BUB3	ORPHA:1052
HP:0002813	Abnormality of limb bone morphology	699	BUB1	ORPHA:1052
HP:0002813	Abnormality of limb bone morphology	699	BUB1	OMIM:620183
HP:0002813	Abnormality of limb bone morphology	9702	CEP57	ORPHA:1052
HP:0002813	Abnormality of limb bone morphology	9702	CEP57	OMIM:614114
HP:0002813	Abnormality of limb bone morphology	9319	TRIP13	ORPHA:1052
HP:0002813	Abnormality of limb bone morphology	701	BUB1B	ORPHA:1052
HP:0002813	Abnormality of limb bone morphology	54476	RNF216	ORPHA:1173
HP:0002813	Abnormality of limb bone morphology	10908	PNPLA6	ORPHA:1173
HP:0002813	Abnormality of limb bone morphology	23036	ZNF292	OMIM:619188
HP:0002813	Abnormality of limb bone morphology	51199	NIN	OMIM:614851
HP:0002813	Abnormality of limb bone morphology	51199	NIN	ORPHA:319675
HP:0002813	Abnormality of limb bone morphology	1954	MEGF8	OMIM:614976
HP:0002813	Abnormality of limb bone morphology	1857	DVL3	ORPHA:3107
HP:0002813	Abnormality of limb bone morphology	7474	WNT5A	ORPHA:3107
HP:0002813	Abnormality of limb bone morphology	1855	DVL1	ORPHA:3107
HP:0002813	Abnormality of limb bone morphology	2535	FZD2	ORPHA:3107
HP:0002813	Abnormality of limb bone morphology	2535	FZD2	OMIM:164745
HP:0002813	Abnormality of limb bone morphology	26053	AUTS2	OMIM:615834
HP:0002813	Abnormality of limb bone morphology	2122	MECOM	ORPHA:71289
HP:0002813	Abnormality of limb bone morphology	3207	HOXA11	ORPHA:71289
HP:0002813	Abnormality of limb bone morphology	3207	HOXA11	OMIM:605432
HP:0002813	Abnormality of limb bone morphology	81031	SLC2A10	ORPHA:3342
HP:0002813	Abnormality of limb bone morphology	10236	HNRNPR	OMIM:620073
HP:0002813	Abnormality of limb bone morphology	6628	SNRPB	ORPHA:1393
HP:0002813	Abnormality of limb bone morphology	6628	SNRPB	OMIM:117650
HP:0002813	Abnormality of limb bone morphology	1028	CDKN1C	ORPHA:397590
HP:0002813	Abnormality of limb bone morphology	5324	PLAG1	ORPHA:397590
HP:0002813	Abnormality of limb bone morphology	9555	MACROH2A1	ORPHA:1275
HP:0002813	Abnormality of limb bone morphology	5307	PITX1	ORPHA:1275
HP:0002813	Abnormality of limb bone morphology	5422	POLA1	ORPHA:163976
HP:0002813	Abnormality of limb bone morphology	5422	POLA1	OMIM:301030
HP:0002813	Abnormality of limb bone morphology	55906	ZC4H2	ORPHA:3454
HP:0002813	Abnormality of limb bone morphology	10430	TMEM147	OMIM:620075
HP:0002813	Abnormality of limb bone morphology	3187	HNRNPH1	OMIM:620083
HP:0002813	Abnormality of limb bone morphology	23414	ZFPM2	OMIM:187500
HP:0002813	Abnormality of limb bone morphology	23414	ZFPM2	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	1482	NKX2-5	OMIM:187500
HP:0002813	Abnormality of limb bone morphology	1482	NKX2-5	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	182	JAG1	OMIM:187500
HP:0002813	Abnormality of limb bone morphology	182	JAG1	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	6899	TBX1	OMIM:187500
HP:0002813	Abnormality of limb bone morphology	6899	TBX1	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	2627	GATA6	OMIM:187500
HP:0002813	Abnormality of limb bone morphology	2627	GATA6	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	545	ATR	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	545	ATR	OMIM:210600
HP:0002813	Abnormality of limb bone morphology	1062	CENPE	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	5116	PCNT	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	5116	PCNT	OMIM:210720
HP:0002813	Abnormality of limb bone morphology	5116	PCNT	ORPHA:2637
HP:0002813	Abnormality of limb bone morphology	79902	NUP85	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	84126	ATRIP	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	55835	CENPJ	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	10293	TRAIP	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	10733	PLK4	ORPHA:808
HP:0002813	Abnormality of limb bone morphology	29123	ANKRD11	OMIM:148050
HP:0002813	Abnormality of limb bone morphology	9775	EIF4A3	OMIM:268305
HP:0002813	Abnormality of limb bone morphology	2702	GJA5	OMIM:612474
HP:0002813	Abnormality of limb bone morphology	2702	GJA5	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	2703	GJA8	OMIM:612474
HP:0002813	Abnormality of limb bone morphology	55690	PACS1	ORPHA:329224
HP:0002813	Abnormality of limb bone morphology	22856	CHSY1	ORPHA:363417
HP:0002813	Abnormality of limb bone morphology	51621	KLF13	OMIM:612001
HP:0002813	Abnormality of limb bone morphology	5648	MASP1	OMIM:257920
HP:0002813	Abnormality of limb bone morphology	11133	KPTN	OMIM:615637
HP:0002813	Abnormality of limb bone morphology	11133	KPTN	ORPHA:397612
HP:0002813	Abnormality of limb bone morphology	137814	NKX2-6	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	3791	KDR	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	2657	GDF1	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	140628	GATA5	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	2324	FLT4	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	10370	CITED2	ORPHA:3303
HP:0002813	Abnormality of limb bone morphology	2334	AFF2	ORPHA:100973
HP:0002813	Abnormality of limb bone morphology	10847	SRCAP	OMIM:136140
HP:0002813	Abnormality of limb bone morphology	84679	SLC9A7	OMIM:301024
HP:0002813	Abnormality of limb bone morphology	10735	STAG2	OMIM:301022
HP:0002813	Abnormality of limb bone morphology	5925	RB1	ORPHA:1587
HP:0002813	Abnormality of limb bone morphology	7874	USP7	OMIM:616863
HP:0002813	Abnormality of limb bone morphology	81620	CDT1	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	5000	ORC4	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	23594	ORC6	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	990	CDC6	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	51053	GMNN	ORPHA:2554
HP:0002813	Abnormality of limb bone morphology	25	ABL1	OMIM:617602
HP:0002813	Abnormality of limb bone morphology	29980	DONSON	OMIM:617604
HP:0002813	Abnormality of limb bone morphology	6638	SNRPN	ORPHA:177907
HP:0002813	Abnormality of limb bone morphology	23476	BRD4	ORPHA:199
HP:0002813	Abnormality of limb bone morphology	22931	RAB18	OMIM:614222
HP:0002813	Abnormality of limb bone morphology	490	ATP2B1	OMIM:619910
HP:0002813	Abnormality of limb bone morphology	54870	QRICH1	OMIM:617982
HP:0002813	Abnormality of limb bone morphology	139285	AMER1	OMIM:300373
HP:0002813	Abnormality of limb bone morphology	4841	NONO	ORPHA:466791
HP:0002813	Abnormality of limb bone morphology	2186	BPTF	OMIM:617755
HP:0002813	Abnormality of limb bone morphology	10225	CD96	ORPHA:1308
HP:0002813	Abnormality of limb bone morphology	4204	MECP2	OMIM:300260
HP:0002813	Abnormality of limb bone morphology	55553	SOX6	OMIM:618971
HP:0002813	Abnormality of limb bone morphology	84148	KAT8	OMIM:618974
HP:0002813	Abnormality of limb bone morphology	58499	ZNF462	OMIM:618619
HP:0002813	Abnormality of limb bone morphology	6598	SMARCB1	OMIM:614608
HP:0002813	Abnormality of limb bone morphology	8838	CCN6	ORPHA:1159
HP:0002813	Abnormality of limb bone morphology	4148	MATN3	ORPHA:93311
HP:0002813	Abnormality of limb bone morphology	3480	IGF1R	ORPHA:73273
HP:0002813	Abnormality of limb bone morphology	4921	DDR2	OMIM:271665
HP:0002813	Abnormality of limb bone morphology	124997	WDR81	OMIM:610185
HP:0002813	Abnormality of limb bone morphology	79639	TMEM53	OMIM:619727
HP:0002813	Abnormality of limb bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0002813	Abnormality of limb bone morphology	1778	DYNC1H1	OMIM:614563
HP:0002813	Abnormality of limb bone morphology	80311	KLHL15	OMIM:300982
HP:0002813	Abnormality of limb bone morphology	55012	PPP2R3C	OMIM:618419
HP:0002813	Abnormality of limb bone morphology	10013	HDAC6	ORPHA:163966
HP:0002813	Abnormality of limb bone morphology	9719	ADAMTSL2	OMIM:231050
HP:0002813	Abnormality of limb bone morphology	79718	TBL1XR1	OMIM:602342
HP:0002813	Abnormality of limb bone morphology	1298	COL9A2	OMIM:600204
HP:0002813	Abnormality of limb bone morphology	28957	MRPS28	OMIM:618958
HP:0002813	Abnormality of limb bone morphology	23261	CAMTA1	OMIM:614756
HP:0002813	Abnormality of limb bone morphology	25839	COG4	ORPHA:85172
HP:0002813	Abnormality of limb bone morphology	8813	DPM1	OMIM:608799
HP:0002813	Abnormality of limb bone morphology	147372	CCBE1	OMIM:235510
HP:0002813	Abnormality of limb bone morphology	579	NKX3-2	OMIM:613330
HP:0002813	Abnormality of limb bone morphology	1302	COL11A2	OMIM:215150
HP:0002813	Abnormality of limb bone morphology	3094	HINT1	ORPHA:324442
HP:0002813	Abnormality of limb bone morphology	2879	GPX4	OMIM:250220
HP:0002813	Abnormality of limb bone morphology	5191	PEX7	OMIM:266500
HP:0002813	Abnormality of limb bone morphology	5264	PHYH	OMIM:266500
HP:0002813	Abnormality of limb bone morphology	54585	LZTFL1	OMIM:615994
HP:0002813	Abnormality of limb bone morphology	55628	ZNF407	OMIM:619557
HP:0002813	Abnormality of limb bone morphology	2146	EZH2	OMIM:277590
HP:0002813	Abnormality of limb bone morphology	79633	FAT4	OMIM:615546
HP:0002813	Abnormality of limb bone morphology	8642	DCHS1	OMIM:601390
HP:0002813	Abnormality of limb bone morphology	54496	PRMT7	ORPHA:464288
HP:0002813	Abnormality of limb bone morphology	10682	EBP	ORPHA:401973
HP:0002813	Abnormality of limb bone morphology	10682	EBP	OMIM:300960
HP:0002813	Abnormality of limb bone morphology	650	BMP2	OMIM:112600
HP:0002813	Abnormality of limb bone morphology	11253	MAN1B1	ORPHA:397941
HP:0002813	Abnormality of limb bone morphology	23394	ADNP	ORPHA:404448
HP:0002813	Abnormality of limb bone morphology	5898	RALA	OMIM:619311
HP:0002813	Abnormality of limb bone morphology	8294	H4C9	OMIM:619951
HP:0002813	Abnormality of limb bone morphology	8506	CNTNAP1	OMIM:618186
HP:0002813	Abnormality of limb bone morphology	4683	NBN	OMIM:251260
HP:0002813	Abnormality of limb bone morphology	5885	RAD21	OMIM:614701
HP:0002813	Abnormality of limb bone morphology	81857	MED25	OMIM:616449
HP:0002813	Abnormality of limb bone morphology	81857	MED25	ORPHA:464738
HP:0002813	Abnormality of limb bone morphology	10586	MAB21L2	OMIM:615877
HP:0002813	Abnormality of limb bone morphology	8854	ALDH1A2	OMIM:620025
HP:0002813	Abnormality of limb bone morphology	10274	STAG1	ORPHA:502434
HP:0002813	Abnormality of limb bone morphology	85358	SHANK3	OMIM:606232
HP:0002813	Abnormality of limb bone morphology	64324	NSD1	ORPHA:821
HP:0002813	Abnormality of limb bone morphology	29072	SETD2	ORPHA:821
HP:0002813	Abnormality of limb bone morphology	10297	APC2	ORPHA:821
HP:0002813	Abnormality of limb bone morphology	55209	SETD5	ORPHA:404440
HP:0002813	Abnormality of limb bone morphology	10743	RAI1	ORPHA:477817
HP:0002813	Abnormality of limb bone morphology	23291	FBXW11	OMIM:618914
HP:0002813	Abnormality of limb bone morphology	10982	MAPRE2	OMIM:616734
HP:0002813	Abnormality of limb bone morphology	4297	KMT2A	OMIM:605130
HP:0002813	Abnormality of limb bone morphology	6660	SOX5	ORPHA:313892
HP:0002813	Abnormality of limb bone morphology	54880	BCOR	ORPHA:2712
HP:0002813	Abnormality of limb bone morphology	54880	BCOR	OMIM:300166
HP:0002813	Abnormality of limb bone morphology	51057	WDPCP	OMIM:217085
HP:0002813	Abnormality of limb bone morphology	9241	NOG	OMIM:186500
HP:0002813	Abnormality of limb bone morphology	7319	UBE2A	OMIM:300860
HP:0002813	Abnormality of limb bone morphology	10087	CERT1	OMIM:616351
HP:0002813	Abnormality of limb bone morphology	372	ARCN1	OMIM:617164
HP:0002813	Abnormality of limb bone morphology	164	AP1G1	OMIM:619467
HP:0002813	Abnormality of limb bone morphology	1656	DDX6	OMIM:618653
HP:0002813	Abnormality of limb bone morphology	4212	MEIS2	OMIM:600987
HP:0002813	Abnormality of limb bone morphology	23327	NEDD4L	OMIM:617201
HP:0002813	Abnormality of limb bone morphology	5147	PDE6D	OMIM:615665
HP:0002813	Abnormality of limb bone morphology	57178	ZMIZ1	OMIM:618659
HP:0002813	Abnormality of limb bone morphology	93627	TBCK	ORPHA:488632
HP:0002813	Abnormality of limb bone morphology	6304	SATB1	OMIM:619229
HP:0002813	Abnormality of limb bone morphology	80185	TTI2	ORPHA:391307
HP:0002813	Abnormality of limb bone morphology	26160	IFT172	OMIM:619471
HP:0002813	Abnormality of limb bone morphology	10664	CTCF	ORPHA:363611
HP:0002813	Abnormality of limb bone morphology	3590	IL11RA	OMIM:614188
HP:0002813	Abnormality of limb bone morphology	55165	CEP55	OMIM:236500
HP:0002813	Abnormality of limb bone morphology	84992	PIGY	OMIM:616809
HP:0002813	Abnormality of limb bone morphology	10907	TXNL4A	OMIM:608572
HP:0002813	Abnormality of limb bone morphology	284252	KCTD1	OMIM:181270
HP:0002813	Abnormality of limb bone morphology	6558	SLC12A2	OMIM:619080
HP:0002813	Abnormality of limb bone morphology	7204	TRIO	OMIM:617061
HP:0002813	Abnormality of limb bone morphology	7204	TRIO	ORPHA:476126
HP:0002813	Abnormality of limb bone morphology	2222	FDFT1	OMIM:618156
HP:0002813	Abnormality of limb bone morphology	4089	SMAD4	OMIM:139210
HP:0002813	Abnormality of limb bone morphology	6857	SYT1	ORPHA:522077
HP:0002813	Abnormality of limb bone morphology	6472	SHMT2	OMIM:619121
HP:0002813	Abnormality of limb bone morphology	112752	IFT43	OMIM:617866
HP:0002813	Abnormality of limb bone morphology	112752	IFT43	OMIM:614099
HP:0002813	Abnormality of limb bone morphology	57570	TRMT5	OMIM:616539
HP:0002813	Abnormality of limb bone morphology	23529	CLCF1	OMIM:610313
HP:0002813	Abnormality of limb bone morphology	11128	POLR3A	ORPHA:3455
HP:0002813	Abnormality of limb bone morphology	745	MYRF	OMIM:618280
HP:0002813	Abnormality of limb bone morphology	23387	SIK3	OMIM:618162
HP:0002813	Abnormality of limb bone morphology	10020	GNE	OMIM:269921
HP:0002813	Abnormality of limb bone morphology	10020	GNE	ORPHA:3166
HP:0002813	Abnormality of limb bone morphology	1663	DDX11	OMIM:613398
HP:0002813	Abnormality of limb bone morphology	5718	PSMD12	OMIM:617516
HP:0002813	Abnormality of limb bone morphology	9757	KMT2B	OMIM:619934
HP:0002813	Abnormality of limb bone morphology	4848	CNOT2	OMIM:618608
HP:0002813	Abnormality of limb bone morphology	55023	PHIP	ORPHA:589905
HP:0002813	Abnormality of limb bone morphology	341208	HEPHL1	OMIM:261990
HP:0002813	Abnormality of limb bone morphology	55212	BBS7	OMIM:615984
HP:0002813	Abnormality of limb bone morphology	4208	MEF2C	OMIM:613443
HP:0002813	Abnormality of limb bone morphology	3720	JARID2	OMIM:620098
HP:0002813	Abnormality of limb bone morphology	3762	KCNJ5	ORPHA:37553
HP:0002813	Abnormality of limb bone morphology	3759	KCNJ2	ORPHA:37553
HP:0002813	Abnormality of limb bone morphology	9990	SLC12A6	OMIM:218000
HP:0002813	Abnormality of limb bone morphology	4613	MYCN	ORPHA:391641
HP:0002813	Abnormality of limb bone morphology	4613	MYCN	OMIM:164280
HP:0002813	Abnormality of limb bone morphology	6913	TBX15	OMIM:260660
HP:0002813	Abnormality of limb bone morphology	54888	NSUN2	OMIM:611091
HP:0002813	Abnormality of limb bone morphology	50814	NSDHL	OMIM:308050
HP:0002813	Abnormality of limb bone morphology	92002	CCNQ	OMIM:300707
HP:0002813	Abnormality of limb bone morphology	81607	NECTIN4	OMIM:613573
HP:0002813	Abnormality of limb bone morphology	9894	TELO2	ORPHA:488642
HP:0002813	Abnormality of limb bone morphology	5932	RBBP8	OMIM:251255
HP:0002813	Abnormality of limb bone morphology	2629	GBA1	OMIM:230800
HP:0002813	Abnormality of limb bone morphology	5660	PSAP	OMIM:610539
HP:0002813	Abnormality of limb bone morphology	1594	CYP27B1	ORPHA:289157
HP:0002813	Abnormality of limb bone morphology	120227	CYP2R1	ORPHA:289157
HP:0002813	Abnormality of limb bone morphology	203859	ANO5	OMIM:166260
HP:0002813	Abnormality of limb bone morphology	4507	MTAP	OMIM:112250
HP:0002813	Abnormality of limb bone morphology	55503	TRPV6	OMIM:618188
HP:0002813	Abnormality of limb bone morphology	4982	TNFRSF11B	OMIM:239000
HP:0002813	Abnormality of limb bone morphology	1758	DMP1	ORPHA:289176
HP:0002813	Abnormality of limb bone morphology	5167	ENPP1	ORPHA:289176
HP:0002813	Abnormality of limb bone morphology	84265	POLR3GL	OMIM:619234
HP:0002813	Abnormality of limb bone morphology	1327	COX4I1	OMIM:619060
HP:0002813	Abnormality of limb bone morphology	1147	CHUK	OMIM:619339
HP:0002813	Abnormality of limb bone morphology	10079	ATP9A	OMIM:620242
HP:0002813	Abnormality of limb bone morphology	55898	UNC45A	OMIM:619377
HP:0002813	Abnormality of limb bone morphology	26277	TINF2	OMIM:613990
HP:0002813	Abnormality of limb bone morphology	9652	SKIC3	OMIM:222470
HP:0002813	Abnormality of limb bone morphology	11277	TREX1	ORPHA:247691
HP:0002813	Abnormality of limb bone morphology	8540	AGPS	OMIM:600121
HP:0002813	Abnormality of limb bone morphology	11160	ERLIN2	ORPHA:209951
HP:0002813	Abnormality of limb bone morphology	22978	NT5C2	ORPHA:320396
HP:0002813	Abnormality of limb bone morphology	1984	EIF5A	OMIM:619376
HP:0002813	Abnormality of limb bone morphology	51305	KCNK9	ORPHA:166108
HP:0002813	Abnormality of limb bone morphology	825	CAPN3	ORPHA:267
HP:0002813	Abnormality of limb bone morphology	113179	ADAT3	ORPHA:363528
HP:0002813	Abnormality of limb bone morphology	324	APC	ORPHA:3258
HP:0002813	Abnormality of limb bone morphology	9365	KL	OMIM:617994
HP:0002813	Abnormality of limb bone morphology	128674	PROKR2	OMIM:244200
HP:0002813	Abnormality of limb bone morphology	22861	NLRP1	OMIM:615225
HP:0002813	Abnormality of limb bone morphology	3373	HYAL1	OMIM:601492
HP:0002813	Abnormality of limb bone morphology	2332	FMR1	OMIM:300624
HP:0002813	Abnormality of limb bone morphology	341640	FREM2	ORPHA:2052
HP:0002813	Abnormality of limb bone morphology	80144	FRAS1	ORPHA:2052
HP:0002813	Abnormality of limb bone morphology	23426	GRIP1	ORPHA:2052
HP:0002813	Abnormality of limb bone morphology	9790	BMS1	ORPHA:1114
HP:0002813	Abnormality of limb bone morphology	5339	PLEC	ORPHA:1114
HP:0002813	Abnormality of limb bone morphology	3691	ITGB4	ORPHA:1114
HP:0002813	Abnormality of limb bone morphology	5818	NECTIN1	ORPHA:3253
HP:0002813	Abnormality of limb bone morphology	1500	CTNND1	ORPHA:1997
HP:0002813	Abnormality of limb bone morphology	134701	RIPPLY2	ORPHA:2311
HP:0002813	Abnormality of limb bone morphology	10683	DLL3	ORPHA:2311
HP:0002813	Abnormality of limb bone morphology	84667	HES7	ORPHA:2311
HP:0002813	Abnormality of limb bone morphology	145873	MESP2	ORPHA:2311
HP:0002813	Abnormality of limb bone morphology	1501	CTNND2	ORPHA:281
HP:0002813	Abnormality of limb bone morphology	9037	SEMA5A	ORPHA:281
HP:0002813	Abnormality of limb bone morphology	9508	ADAMTS3	ORPHA:2136
HP:0002813	Abnormality of limb bone morphology	8517	IKBKG	ORPHA:464
HP:0002813	Abnormality of limb bone morphology	29968	PSAT1	OMIM:616038
HP:0002813	Abnormality of limb bone morphology	3376	IARS1	ORPHA:541423
HP:0002813	Abnormality of limb bone morphology	6583	SLC22A4	OMIM:180300
HP:0002813	Abnormality of limb bone morphology	4261	CIITA	OMIM:180300
HP:0002813	Abnormality of limb bone morphology	51744	CD244	OMIM:180300
HP:0002813	Abnormality of limb bone morphology	4795	NFKBIL1	OMIM:180300
HP:0002813	Abnormality of limb bone morphology	3586	IL10	OMIM:180300
HP:0002813	Abnormality of limb bone morphology	26278	SACS	OMIM:270550
HP:0002813	Abnormality of limb bone morphology	7466	WFS1	OMIM:222300
HP:0002813	Abnormality of limb bone morphology	54829	ASPN	OMIM:607850
HP:0002813	Abnormality of limb bone morphology	2720	GLB1	ORPHA:79255
HP:0002813	Abnormality of limb bone morphology	56172	ANKH	OMIM:123000
HP:0002813	Abnormality of limb bone morphology	249	ALPL	OMIM:241500
HP:0002813	Abnormality of limb bone morphology	5479	PPIB	OMIM:259440
HP:0002813	Abnormality of limb bone morphology	3911	LAMA5	OMIM:620076
HP:0002813	Abnormality of limb bone morphology	2767	GNA11	ORPHA:1556
HP:0002813	Abnormality of limb bone morphology	151188	ARL6IP6	ORPHA:1556
HP:0002813	Abnormality of limb bone morphology	51025	PAM16	OMIM:613320
HP:0002813	Abnormality of limb bone morphology	6662	SOX9	OMIM:114290
HP:0002813	Abnormality of limb bone morphology	1297	COL9A1	OMIM:614135
HP:0002813	Abnormality of limb bone morphology	4322	MMP13	OMIM:250400
HP:0002813	Abnormality of limb bone morphology	4322	MMP13	ORPHA:2501
HP:0002813	Abnormality of limb bone morphology	1300	COL10A1	OMIM:156500
HP:0002813	Abnormality of limb bone morphology	55325	UFSP2	ORPHA:2114
HP:0002813	Abnormality of limb bone morphology	55325	UFSP2	OMIM:142669
HP:0002813	Abnormality of limb bone morphology	83452	RAB33B	OMIM:615222
HP:0002813	Abnormality of limb bone morphology	9382	COG1	OMIM:611209
HP:0002813	Abnormality of limb bone morphology	5251	PHEX	OMIM:307800
HP:0002813	Abnormality of limb bone morphology	5251	PHEX	ORPHA:89936
HP:0002813	Abnormality of limb bone morphology	6812	STXBP1	ORPHA:495818
HP:0002813	Abnormality of limb bone morphology	64682	ANAPC1	ORPHA:221008
HP:0002813	Abnormality of limb bone morphology	6678	SPARC	OMIM:616507
HP:0002813	Abnormality of limb bone morphology	6905	TBCE	ORPHA:93324
HP:0002813	Abnormality of limb bone morphology	79879	CCDC134	OMIM:619795
HP:0002813	Abnormality of limb bone morphology	9871	SEC24D	ORPHA:2050
HP:0002813	Abnormality of limb bone morphology	5034	P4HB	ORPHA:2050
HP:0002813	Abnormality of limb bone morphology	29887	SNX10	ORPHA:667
HP:0002813	Abnormality of limb bone morphology	55603	TENT5A	OMIM:617952
HP:0002813	Abnormality of limb bone morphology	5831	PYCR1	OMIM:612940
HP:0002813	Abnormality of limb bone morphology	90993	CREB3L1	OMIM:616229
HP:0002813	Abnormality of limb bone morphology	3572	IL6ST	OMIM:619751
HP:0002813	Abnormality of limb bone morphology	5352	PLOD2	ORPHA:2771
HP:0002813	Abnormality of limb bone morphology	6514	SLC2A2	ORPHA:2088
HP:0002813	Abnormality of limb bone morphology	5921	RASA1	ORPHA:90307
HP:0002813	Abnormality of limb bone morphology	7157	TP53	ORPHA:668
HP:0002813	Abnormality of limb bone morphology	11200	CHEK2	ORPHA:668
HP:0002813	Abnormality of limb bone morphology	4318	MMP9	ORPHA:1040
HP:0002813	Abnormality of limb bone morphology	145258	GSC	OMIM:602471
HP:0002813	Abnormality of limb bone morphology	64135	IFIH1	OMIM:182250
HP:0002813	Abnormality of limb bone morphology	84342	COG8	OMIM:611182
HP:0002813	Abnormality of limb bone morphology	2074	ERCC6	OMIM:214150
HP:0002813	Abnormality of limb bone morphology	9451	EIF2AK3	OMIM:226980
HP:0002813	Abnormality of limb bone morphology	10804	GJB6	ORPHA:477
HP:0002813	Abnormality of limb bone morphology	2706	GJB2	ORPHA:477
HP:0002813	Abnormality of limb bone morphology	3032	HADHB	ORPHA:746
HP:0002813	Abnormality of limb bone morphology	3030	HADHA	ORPHA:746
HP:0002813	Abnormality of limb bone morphology	3236	HOXD10	OMIM:192950
HP:0002813	Abnormality of limb bone morphology	2273	FHL1	OMIM:300280
HP:0002813	Abnormality of limb bone morphology	3459	IFNGR1	OMIM:209950
HP:0002813	Abnormality of limb bone morphology	405753	DUOXA2	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	6528	SLC5A5	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	7038	TG	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	7173	TPO	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	389434	IYD	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	50506	DUOX2	ORPHA:95716
HP:0002813	Abnormality of limb bone morphology	7253	TSHR	ORPHA:90673
HP:0002813	Abnormality of limb bone morphology	7252	TSHB	ORPHA:90674
HP:0002813	Abnormality of limb bone morphology	8443	GNPAT	OMIM:222765
HP:0002813	Abnormality of limb bone morphology	79912	PYROXD1	OMIM:617258
HP:0002813	Abnormality of limb bone morphology	10765	KDM5B	OMIM:618109
HP:0002813	Abnormality of limb bone morphology	10093	ARPC4	OMIM:620141
HP:0002813	Abnormality of limb bone morphology	5879	RAC1	ORPHA:500159
HP:0002813	Abnormality of limb bone morphology	1144	CHRND	OMIM:253290
HP:0002813	Abnormality of limb bone morphology	1134	CHRNA1	OMIM:253290
HP:0002813	Abnormality of limb bone morphology	2019	EN1	OMIM:619218
HP:0002813	Abnormality of limb bone morphology	51651	PTRH2	OMIM:616263
HP:0002813	Abnormality of limb bone morphology	51651	PTRH2	ORPHA:456312
HP:0002813	Abnormality of limb bone morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002813	Abnormality of limb bone morphology	6909	TBX2	OMIM:618223
HP:0002813	Abnormality of limb bone morphology	8985	PLOD3	OMIM:612394
HP:0002813	Abnormality of limb bone morphology	55280	CWF19L1	ORPHA:453521
HP:0002813	Abnormality of limb bone morphology	23586	RIGI	OMIM:616298
HP:0002813	Abnormality of limb bone morphology	8452	CUL3	OMIM:619239
HP:0002813	Abnormality of limb bone morphology	1807	DPYS	OMIM:222748
HP:0002813	Abnormality of limb bone morphology	8815	BANF1	OMIM:614008
HP:0002813	Abnormality of limb bone morphology	26229	B3GAT3	OMIM:245600
HP:0002813	Abnormality of limb bone morphology	51412	ACTL6B	OMIM:618470
HP:0002813	Abnormality of limb bone morphology	55784	MCTP2	ORPHA:1596
HP:0002813	Abnormality of limb bone morphology	10651	MTX2	ORPHA:90153
HP:0002813	Abnormality of limb bone morphology	10269	ZMPSTE24	ORPHA:90154
HP:0002813	Abnormality of limb bone morphology	24140	FTSJ1	OMIM:309549
HP:0002813	Abnormality of limb bone morphology	2475	MTOR	OMIM:616638
HP:0002813	Abnormality of limb bone morphology	54	ACP5	ORPHA:1855
HP:0002813	Abnormality of limb bone morphology	5281	PIGF	OMIM:619356
HP:0002813	Abnormality of limb bone morphology	2677	GGCX	OMIM:277450
HP:0002813	Abnormality of limb bone morphology	415	ARSL	ORPHA:79345
HP:0002813	Abnormality of limb bone morphology	415	ARSL	OMIM:302950
HP:0002813	Abnormality of limb bone morphology	26137	ZBTB20	OMIM:259050
HP:0002813	Abnormality of limb bone morphology	60401	EDA2R	ORPHA:181
HP:0002813	Abnormality of limb bone morphology	1896	EDA	ORPHA:181
HP:0002813	Abnormality of limb bone morphology	4256	MGP	ORPHA:85202
HP:0002813	Abnormality of limb bone morphology	4256	MGP	OMIM:245150
HP:0002813	Abnormality of limb bone morphology	1186	CLCN7	ORPHA:53
HP:0002813	Abnormality of limb bone morphology	865	CBFB	OMIM:620099
HP:0002813	Abnormality of limb bone morphology	6711	SPTBN1	OMIM:619475
HP:0002813	Abnormality of limb bone morphology	71	ACTG1	ORPHA:2995
HP:0002813	Abnormality of limb bone morphology	6135	RPL11	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6138	RPL15	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6229	RPS24	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6125	RPL5	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6204	RPS10	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6224	RPS20	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6165	RPL35A	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6223	RPS19	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6223	RPS19	OMIM:105650
HP:0002813	Abnormality of limb bone morphology	6232	RPS27	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6231	RPS26	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	11224	RPL35	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6160	RPL31	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6218	RPS17	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6201	RPS7	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6155	RPL27	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6210	RPS15A	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	90121	TSR2	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6141	RPL18	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6235	RPS29	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	6234	RPS28	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	51816	ADA2	ORPHA:124
HP:0002813	Abnormality of limb bone morphology	10992	SF3B2	OMIM:164210
HP:0002813	Abnormality of limb bone morphology	27152	INTU	OMIM:617926
HP:0002813	Abnormality of limb bone morphology	57020	VPS35L	OMIM:619135
HP:0002813	Abnormality of limb bone morphology	6736	SRY	ORPHA:1772
HP:0002813	Abnormality of limb bone morphology	26224	FBXL3	OMIM:606220
HP:0002813	Abnormality of limb bone morphology	55612	FERMT1	ORPHA:2908
HP:0002813	Abnormality of limb bone morphology	64175	P3H1	OMIM:610915
HP:0002813	Abnormality of limb bone morphology	5593	PRKG2	OMIM:619636
HP:0002813	Abnormality of limb bone morphology	4810	NHS	ORPHA:627
HP:0002813	Abnormality of limb bone morphology	55252	ASXL2	OMIM:617190
HP:0002813	Abnormality of limb bone morphology	1788	DNMT3A	OMIM:618724
HP:0002813	Abnormality of limb bone morphology	90417	KNSTRN	OMIM:613328
HP:0002813	Abnormality of limb bone morphology	5293	PIK3CD	OMIM:613328
HP:0002813	Abnormality of limb bone morphology	10059	DNM1L	OMIM:614388
HP:0002813	Abnormality of limb bone morphology	4329	ALDH6A1	OMIM:614105
HP:0002813	Abnormality of limb bone morphology	6878	TAF6	OMIM:617126
HP:0002813	Abnormality of limb bone morphology	285362	SUMF1	ORPHA:585
HP:0002813	Abnormality of limb bone morphology	3764	KCNJ8	ORPHA:1517
HP:0002813	Abnormality of limb bone morphology	60	ACTB	OMIM:243310
HP:0002813	Abnormality of limb bone morphology	10060	ABCC9	OMIM:239850
HP:0002813	Abnormality of limb bone morphology	10716	TBR1	ORPHA:1617
HP:0002813	Abnormality of limb bone morphology	1161	ERCC8	OMIM:216400
HP:0002813	Abnormality of limb bone morphology	158326	FREM1	ORPHA:217266
HP:0002813	Abnormality of limb bone morphology	3170	FOXA2	ORPHA:95494
HP:0002813	Abnormality of limb bone morphology	5015	OTX2	ORPHA:95494
HP:0002813	Abnormality of limb bone morphology	3899	AFF3	OMIM:619297
HP:0002813	Abnormality of limb bone morphology	22897	CEP164	OMIM:614845
HP:0002813	Abnormality of limb bone morphology	3643	INSR	ORPHA:769
HP:0002813	Abnormality of limb bone morphology	26146	TRAF3IP1	OMIM:616629
HP:0002813	Abnormality of limb bone morphology	7840	ALMS1	OMIM:203800
HP:0002813	Abnormality of limb bone morphology	8802	SUCLG1	ORPHA:17
HP:0002813	Abnormality of limb bone morphology	83879	CDCA7	OMIM:616910
HP:0002813	Abnormality of limb bone morphology	5813	PURA	ORPHA:314655
HP:0002813	Abnormality of limb bone morphology	4758	NEU1	ORPHA:93400
HP:0002813	Abnormality of limb bone morphology	84892	POMGNT2	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	148789	B3GALNT2	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	79147	FKRP	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	29954	POMT2	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	9215	LARGE1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	1282	COL4A1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	10329	RXYLT1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	1605	DAG1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	11041	B4GAT1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	10585	POMT1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	84197	POMK	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	55624	POMGNT1	ORPHA:899
HP:0002813	Abnormality of limb bone morphology	51111	KMT5B	OMIM:617788
HP:0002813	Abnormality of limb bone morphology	80347	COASY	OMIM:618266
HP:0002813	Abnormality of limb bone morphology	54809	SAMD9	OMIM:617053
HP:0002813	Abnormality of limb bone morphology	348180	CTU2	OMIM:618142
HP:0002813	Abnormality of limb bone morphology	7841	MOGS	OMIM:606056
HP:0002813	Abnormality of limb bone morphology	7841	MOGS	ORPHA:79330
HP:0002813	Abnormality of limb bone morphology	256297	PTF1A	OMIM:609069
HP:0002813	Abnormality of limb bone morphology	129285	PPP1R21	OMIM:619383
HP:0002813	Abnormality of limb bone morphology	8567	MADD	OMIM:619004
HP:0002813	Abnormality of limb bone morphology	5297	PI4KA	OMIM:616531
HP:0002813	Abnormality of limb bone morphology	5297	PI4KA	OMIM:619708
HP:0002813	Abnormality of limb bone morphology	1822	ATN1	OMIM:618494
HP:0002813	Abnormality of limb bone morphology	5591	PRKDC	OMIM:615966
HP:0002813	Abnormality of limb bone morphology	60561	RINT1	OMIM:618641
HP:0002813	Abnormality of limb bone morphology	3313	HSPA9	OMIM:616854
HP:0002813	Abnormality of limb bone morphology	4626	MYH8	OMIM:158300
HP:0002813	Abnormality of limb bone morphology	64116	SLC39A8	ORPHA:468699
HP:0002813	Abnormality of limb bone morphology	51506	UFC1	OMIM:618076
HP:0002813	Abnormality of limb bone morphology	11146	GLMN	ORPHA:83454
HP:0002813	Abnormality of limb bone morphology	29998	BICRA	OMIM:619325
HP:0002813	Abnormality of limb bone morphology	8726	EED	OMIM:617561
HP:0002813	Abnormality of limb bone morphology	8726	EED	ORPHA:3447
HP:0002813	Abnormality of limb bone morphology	657	BMPR1A	ORPHA:79076
HP:0002813	Abnormality of limb bone morphology	4123	MAN2C1	OMIM:619775
HP:0002813	Abnormality of limb bone morphology	60529	ALX4	ORPHA:60015
HP:0002813	Abnormality of limb bone morphology	5587	PRKD1	OMIM:617364
HP:0002813	Abnormality of limb bone morphology	654	BMP6	ORPHA:465508
HP:0002813	Abnormality of limb bone morphology	3077	HFE	ORPHA:465508
HP:0002813	Abnormality of limb bone morphology	6775	STAT4	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	3560	IL2RB	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	79722	ANKRD55	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	26191	PTPN22	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	919	CD247	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	3559	IL2RA	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	5771	PTPN2	ORPHA:85408
HP:0002813	Abnormality of limb bone morphology	6872	TAF1	OMIM:300966
HP:0002813	Abnormality of limb bone morphology	3835	KIF22	OMIM:603546
HP:0002813	Abnormality of limb bone morphology	84340	GFM2	ORPHA:565624
HP:0002813	Abnormality of limb bone morphology	6840	SVIL	OMIM:619040
HP:0002813	Abnormality of limb bone morphology	342035	GLDN	OMIM:617194
HP:0002813	Abnormality of limb bone morphology	57190	SELENON	ORPHA:2020
HP:0002813	Abnormality of limb bone morphology	4633	MYL2	ORPHA:2020
HP:0002813	Abnormality of limb bone morphology	3679	ITGA7	ORPHA:2020
HP:0002813	Abnormality of limb bone morphology	9200	HACD1	ORPHA:2020
HP:0002813	Abnormality of limb bone morphology	7170	TPM3	ORPHA:2020
HP:0002813	Abnormality of limb bone morphology	28982	FLVCR1	ORPHA:88628
HP:0002813	Abnormality of limb bone morphology	28982	FLVCR1	OMIM:609033
HP:0002813	Abnormality of limb bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0002813	Abnormality of limb bone morphology	5696	PSMB8	OMIM:256040
HP:0002813	Abnormality of limb bone morphology	5692	PSMB4	OMIM:617591
HP:0002813	Abnormality of limb bone morphology	5698	PSMB9	OMIM:617591
HP:0002813	Abnormality of limb bone morphology	4952	OCRL	OMIM:309000
HP:0002813	Abnormality of limb bone morphology	83932	SPRTN	OMIM:616200
HP:0002813	Abnormality of limb bone morphology	26012	NSMF	OMIM:614838
HP:0002813	Abnormality of limb bone morphology	55780	ERMARD	ORPHA:75857
HP:0002813	Abnormality of limb bone morphology	10559	SLC35A1	OMIM:603585
HP:0002813	Abnormality of limb bone morphology	84720	PIGO	ORPHA:247262
HP:0002813	Abnormality of limb bone morphology	93210	PGAP3	ORPHA:247262
HP:0002813	Abnormality of limb bone morphology	284098	PIGW	ORPHA:247262
HP:0002813	Abnormality of limb bone morphology	27315	PGAP2	ORPHA:247262
HP:0002813	Abnormality of limb bone morphology	10584	COLEC10	OMIM:248340
HP:0002813	Abnormality of limb bone morphology	92579	G6PC3	OMIM:612541
HP:0002813	Abnormality of limb bone morphology	23512	SUZ12	OMIM:618786
HP:0002813	Abnormality of limb bone morphology	8558	CDK10	OMIM:617694
HP:0002813	Abnormality of limb bone morphology	8085	KMT2D	OMIM:620186
HP:0002813	Abnormality of limb bone morphology	23137	SMC5	OMIM:620185
HP:0002813	Abnormality of limb bone morphology	79759	ZNF668	OMIM:620194
HP:0002813	Abnormality of limb bone morphology	27086	FOXP1	ORPHA:391372
HP:0002813	Abnormality of limb bone morphology	56098	PCDHGC4	OMIM:619880
HP:0002813	Abnormality of limb bone morphology	8621	CDK13	OMIM:617360
HP:0002813	Abnormality of limb bone morphology	5881	RAC3	OMIM:618577
HP:0002813	Abnormality of limb bone morphology	5426	POLE	OMIM:618336
HP:0002813	Abnormality of limb bone morphology	6664	SOX11	OMIM:615866
HP:0002813	Abnormality of limb bone morphology	6664	SOX11	ORPHA:1465
HP:0002813	Abnormality of limb bone morphology	54892	NCAPG2	OMIM:618460
HP:0002813	Abnormality of limb bone morphology	55315	SLC29A3	OMIM:602782
HP:0002813	Abnormality of limb bone morphology	999	CDH1	OMIM:119580
HP:0002813	Abnormality of limb bone morphology	23511	NUP188	OMIM:618804
HP:0002813	Abnormality of limb bone morphology	6597	SMARCA4	ORPHA:1465
HP:0002813	Abnormality of limb bone morphology	6601	SMARCC2	ORPHA:1465
HP:0002813	Abnormality of limb bone morphology	6602	SMARCD1	ORPHA:1465
HP:0002813	Abnormality of limb bone morphology	83737	ITCH	OMIM:613385
HP:0002813	Abnormality of limb bone morphology	83737	ITCH	ORPHA:228426
HP:0002813	Abnormality of limb bone morphology	93587	TRMT10A	ORPHA:391408
HP:0002813	Abnormality of limb bone morphology	84919	PPP1R15B	ORPHA:391408
HP:0002813	Abnormality of limb bone morphology	6748	SSR4	OMIM:300934
HP:0002813	Abnormality of limb bone morphology	9320	TRIP12	OMIM:617752
HP:0002813	Abnormality of limb bone morphology	84231	TRAF7	OMIM:618164
HP:0002813	Abnormality of limb bone morphology	11043	MID2	OMIM:300928
HP:0002813	Abnormality of limb bone morphology	5286	PIK3C2A	ORPHA:557003
HP:0002813	Abnormality of limb bone morphology	23309	SIN3B	ORPHA:500166
HP:0002813	Abnormality of limb bone morphology	100	ADA	OMIM:102700
HP:0002813	Abnormality of limb bone morphology	54187	NANS	OMIM:610442
HP:0002813	Abnormality of limb bone morphology	23761	PISD	OMIM:618889
HP:0002813	Abnormality of limb bone morphology	64132	XYLT2	OMIM:605822
HP:0002813	Abnormality of limb bone morphology	10312	TCIRG1	OMIM:259700
HP:0002813	Abnormality of limb bone morphology	8792	TNFRSF11A	OMIM:612301
HP:0002813	Abnormality of limb bone morphology	221496	LEMD2	OMIM:619322
HP:0002813	Abnormality of limb bone morphology	2688	GH1	OMIM:612781
HP:0002813	Abnormality of limb bone morphology	128	ADH5	OMIM:619151
HP:0002813	Abnormality of limb bone morphology	26175	LYSET	OMIM:619345
HP:0002813	Abnormality of limb bone morphology	126129	CPT1C	OMIM:616282
HP:0002813	Abnormality of limb bone morphology	1747	DLX3	ORPHA:3352
HP:0002813	Abnormality of limb bone morphology	3767	KCNJ11	ORPHA:79134
HP:0002813	Abnormality of limb bone morphology	79731	NARS2	ORPHA:79134
HP:0002813	Abnormality of limb bone morphology	6833	ABCC8	ORPHA:79134
HP:0002813	Abnormality of limb bone morphology	175	AGA	ORPHA:93
HP:0002813	Abnormality of limb bone morphology	25923	ATL3	OMIM:615632
HP:0002813	Abnormality of limb bone morphology	55858	TMEM165	OMIM:614727
HP:0002813	Abnormality of limb bone morphology	1063	CENPF	OMIM:243605
HP:0002813	Abnormality of limb bone morphology	26047	CNTNAP2	ORPHA:163681
HP:0002813	Abnormality of limb bone morphology	9371	KIF3B	OMIM:618955
HP:0002813	Abnormality of limb bone morphology	286204	CRB2	OMIM:219730
HP:0002813	Abnormality of limb bone morphology	57511	COG6	OMIM:614576
HP:0002813	Abnormality of limb bone morphology	84300	UQCC2	OMIM:615824
HP:0002813	Abnormality of limb bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0002813	Abnormality of limb bone morphology	2218	FKTN	ORPHA:272
HP:0002813	Abnormality of limb bone morphology	7355	SLC35A2	ORPHA:356961
HP:0002813	Abnormality of limb bone morphology	54968	TMEM70	ORPHA:1194
HP:0002813	Abnormality of limb bone morphology	84466	MEGF10	OMIM:614399
HP:0002813	Abnormality of limb bone morphology	3508	IGHMBP2	OMIM:604320
HP:0002813	Abnormality of limb bone morphology	64127	NOD2	OMIM:186580
HP:0002813	Abnormality of limb bone morphology	64127	NOD2	ORPHA:90340
HP:0002813	Abnormality of limb bone morphology	4593	MUSK	OMIM:208150
HP:0002813	Abnormality of limb bone morphology	4593	MUSK	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	5189	PEX1	ORPHA:3220
HP:0002813	Abnormality of limb bone morphology	5190	PEX6	ORPHA:3220
HP:0002813	Abnormality of limb bone morphology	23102	TBC1D2B	OMIM:619323
HP:0002813	Abnormality of limb bone morphology	2068	ERCC2	OMIM:610756
HP:0002813	Abnormality of limb bone morphology	2068	ERCC2	ORPHA:1466
HP:0002813	Abnormality of limb bone morphology	2073	ERCC5	ORPHA:1466
HP:0002813	Abnormality of limb bone morphology	4927	NUP88	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	7846	TUBA1A	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	5913	RAPSN	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	6572	SLC18A3	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	285489	DOK7	ORPHA:994
HP:0002813	Abnormality of limb bone morphology	23443	SLC35A3	OMIM:615553
HP:0002813	Abnormality of limb bone morphology	25914	RTTN	ORPHA:468631
HP:0002813	Abnormality of limb bone morphology	26092	TOR1AIP1	OMIM:617072
HP:0002813	Abnormality of limb bone morphology	55651	NHP2	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	79650	USB1	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	55135	WRAP53	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	4869	NPM1	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	55505	NOP10	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	1736	DKC1	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	7298	TYMS	ORPHA:1775
HP:0002813	Abnormality of limb bone morphology	2554	GABRA1	ORPHA:33069
HP:0002813	Abnormality of limb bone morphology	57526	PCDH19	ORPHA:33069
HP:0002813	Abnormality of limb bone morphology	2566	GABRG2	ORPHA:33069
HP:0002813	Abnormality of limb bone morphology	2566	GABRG2	ORPHA:36387
HP:0002813	Abnormality of limb bone morphology	112755	STX1B	ORPHA:36387
HP:0002813	Abnormality of limb bone morphology	348980	HCN1	ORPHA:36387
HP:0002813	Abnormality of limb bone morphology	84059	ADGRV1	ORPHA:36387
HP:0002813	Abnormality of limb bone morphology	2212	FCGR2A	OMIM:219700
HP:0002813	Abnormality of limb bone morphology	3071	NCKAP1L	OMIM:618982
HP:0002813	Abnormality of limb bone morphology	7015	TERT	OMIM:614742
HP:0002813	Abnormality of limb bone morphology	7015	TERT	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	7015	TERT	OMIM:178500
HP:0002813	Abnormality of limb bone morphology	987	LRBA	OMIM:614700
HP:0002813	Abnormality of limb bone morphology	729238	SFTPA2	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	729238	SFTPA2	OMIM:178500
HP:0002813	Abnormality of limb bone morphology	79991	STN1	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	727897	MUC5B	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	727897	MUC5B	OMIM:178500
HP:0002813	Abnormality of limb bone morphology	10144	FAM13A	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	23250	ATP11A	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	91039	DPP9	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	51750	RTEL1	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	7012	TERC	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	5073	PARN	ORPHA:2032
HP:0002813	Abnormality of limb bone morphology	440275	EIF2AK4	ORPHA:199241
HP:0002813	Abnormality of limb bone morphology	10568	SLC34A2	ORPHA:60025
HP:0002813	Abnormality of limb bone morphology	8884	SLC5A6	OMIM:618973
HP:0002813	Abnormality of limb bone morphology	10125	RASGRP1	OMIM:618534
HP:0002813	Abnormality of limb bone morphology	59067	IL21	OMIM:615767
HP:0002813	Abnormality of limb bone morphology	79651	RHBDF2	ORPHA:2198
HP:0002813	Abnormality of limb bone morphology	7092	TLL1	ORPHA:99106
HP:0002813	Abnormality of limb bone morphology	274	BIN1	ORPHA:169186
HP:0002813	Abnormality of limb bone morphology	10290	SPEG	ORPHA:169186
HP:0002813	Abnormality of limb bone morphology	6261	RYR1	ORPHA:169186
HP:0002813	Abnormality of limb bone morphology	7273	TTN	ORPHA:169186
HP:0002813	Abnormality of limb bone morphology	57459	GATAD2B	OMIM:615074
HP:0002813	Abnormality of limb bone morphology	57459	GATAD2B	ORPHA:363686
HP:0002813	Abnormality of limb bone morphology	1281	COL3A1	OMIM:618343
HP:0002813	Abnormality of limb bone morphology	51520	LARS1	OMIM:615438
HP:0002813	Abnormality of limb bone morphology	116931	MED12L	OMIM:618872
HP:0002813	Abnormality of limb bone morphology	203068	TUBB	OMIM:156610
HP:0002813	Abnormality of limb bone morphology	9772	TMEM94	OMIM:618316
HP:0002813	Abnormality of limb bone morphology	79971	WLS	OMIM:619648
HP:0002813	Abnormality of limb bone morphology	2556	GABRA3	OMIM:301091
HP:0002813	Abnormality of limb bone morphology	5373	PMM2	ORPHA:79318
HP:0002813	Abnormality of limb bone morphology	7528	YY1	OMIM:617557
HP:0002813	Abnormality of limb bone morphology	55768	NGLY1	ORPHA:404454
HP:0002813	Abnormality of limb bone morphology	9842	PLEKHM1	OMIM:611497
HP:0002813	Abnormality of limb bone morphology	79705	LRRK1	OMIM:615198
HP:0002813	Abnormality of limb bone morphology	781	CACNA2D1	OMIM:620149
HP:0002813	Abnormality of limb bone morphology	123263	MTFMT	OMIM:614947
HP:0002813	Abnormality of limb bone morphology	7486	WRN	ORPHA:902
HP:0002813	Abnormality of limb bone morphology	388662	SLC6A17	OMIM:616269
HP:0002813	Abnormality of limb bone morphology	1801	DPH1	ORPHA:459061
HP:0002814	Abnormality of the lower limb	3858	KRT10	OMIM:607602
HP:0002814	Abnormality of the lower limb	3858	KRT10	OMIM:609165
HP:0002814	Abnormality of the lower limb	121214	SDR9C7	OMIM:617574
HP:0002814	Abnormality of the lower limb	55651	NHP2	OMIM:224230
HP:0002814	Abnormality of the lower limb	55505	NOP10	OMIM:224230
HP:0002814	Abnormality of the lower limb	121391	KRT74	OMIM:194300
HP:0002814	Abnormality of the lower limb	7373	COL14A1	ORPHA:79501
HP:0002814	Abnormality of the lower limb	57511	COG6	ORPHA:363523
HP:0002814	Abnormality of the lower limb	57511	COG6	OMIM:615328
HP:0002814	Abnormality of the lower limb	22861	NLRP1	OMIM:617388
HP:0002814	Abnormality of the lower limb	55612	FERMT1	OMIM:173650
HP:0002814	Abnormality of the lower limb	7015	TERT	OMIM:613989
HP:0002814	Abnormality of the lower limb	3889	KRT83	OMIM:617756
HP:0002814	Abnormality of the lower limb	7286	TUFT1	OMIM:607655
HP:0002814	Abnormality of the lower limb	9015	TAF1A	ORPHA:154
HP:0002814	Abnormality of the lower limb	5663	PSEN1	ORPHA:154
HP:0002814	Abnormality of the lower limb	7112	TMPO	ORPHA:154
HP:0002814	Abnormality of the lower limb	9464	HAND2	ORPHA:154
HP:0002814	Abnormality of the lower limb	88	ACTN2	ORPHA:154
HP:0002814	Abnormality of the lower limb	10486	CAP2	ORPHA:154
HP:0002814	Abnormality of the lower limb	7168	TPM1	ORPHA:154
HP:0002814	Abnormality of the lower limb	7414	VCL	ORPHA:154
HP:0002814	Abnormality of the lower limb	70	ACTC1	ORPHA:154
HP:0002814	Abnormality of the lower limb	27063	ANKRD1	ORPHA:154
HP:0002814	Abnormality of the lower limb	8048	CSRP3	ORPHA:154
HP:0002814	Abnormality of the lower limb	7139	TNNT2	ORPHA:154
HP:0002814	Abnormality of the lower limb	1829	DSG2	ORPHA:154
HP:0002814	Abnormality of the lower limb	3910	LAMA4	ORPHA:154
HP:0002814	Abnormality of the lower limb	10587	TXNRD2	ORPHA:154
HP:0002814	Abnormality of the lower limb	5350	PLN	ORPHA:154
HP:0002814	Abnormality of the lower limb	91624	NEXN	ORPHA:154
HP:0002814	Abnormality of the lower limb	79717	PPCS	ORPHA:154
HP:0002814	Abnormality of the lower limb	5664	PSEN2	ORPHA:154
HP:0002814	Abnormality of the lower limb	4624	MYH6	ORPHA:154
HP:0002814	Abnormality of the lower limb	9529	BAG5	ORPHA:154
HP:0002814	Abnormality of the lower limb	4607	MYBPC3	ORPHA:154
HP:0002814	Abnormality of the lower limb	282996	RBM20	ORPHA:154
HP:0002814	Abnormality of the lower limb	7137	TNNI3	ORPHA:154
HP:0002814	Abnormality of the lower limb	2274	FHL2	ORPHA:154
HP:0002814	Abnormality of the lower limb	22845	DOLK	ORPHA:154
HP:0002814	Abnormality of the lower limb	5894	RAF1	ORPHA:154
HP:0002814	Abnormality of the lower limb	57798	GATAD1	ORPHA:154
HP:0002814	Abnormality of the lower limb	7134	TNNC1	ORPHA:154
HP:0002814	Abnormality of the lower limb	6331	SCN5A	ORPHA:154
HP:0002814	Abnormality of the lower limb	79092	CARD14	OMIM:173200
HP:0002814	Abnormality of the lower limb	79092	CARD14	ORPHA:2897
HP:0002814	Abnormality of the lower limb	1308	COL17A1	ORPHA:79406
HP:0002814	Abnormality of the lower limb	1308	COL17A1	ORPHA:79402
HP:0002814	Abnormality of the lower limb	162	AP1B1	OMIM:242150
HP:0002814	Abnormality of the lower limb	4574	MT-TS1	ORPHA:2202
HP:0002814	Abnormality of the lower limb	1824	DSC2	OMIM:610476
HP:0002814	Abnormality of the lower limb	3849	KRT2	ORPHA:455
HP:0002814	Abnormality of the lower limb	3909	LAMA3	ORPHA:79402
HP:0002814	Abnormality of the lower limb	3918	LAMC2	ORPHA:79402
HP:0002814	Abnormality of the lower limb	6898	TAT	ORPHA:28378
HP:0002814	Abnormality of the lower limb	10483	SEC23B	ORPHA:201
HP:0002814	Abnormality of the lower limb	6391	SDHC	ORPHA:201
HP:0002814	Abnormality of the lower limb	205717	USF3	ORPHA:201
HP:0002814	Abnormality of the lower limb	100144748	KLLN	ORPHA:201
HP:0002814	Abnormality of the lower limb	1475	CSTA	OMIM:607936
HP:0002814	Abnormality of the lower limb	285848	PNPLA1	OMIM:615024
HP:0002814	Abnormality of the lower limb	285848	PNPLA1	ORPHA:79394
HP:0002814	Abnormality of the lower limb	23328	SASH1	OMIM:618373
HP:0002814	Abnormality of the lower limb	1474	CST6	OMIM:618535
HP:0002814	Abnormality of the lower limb	412	STS	OMIM:308100
HP:0002814	Abnormality of the lower limb	54795	TRPM4	ORPHA:316
HP:0002814	Abnormality of the lower limb	242	ALOX12B	OMIM:242100
HP:0002814	Abnormality of the lower limb	242	ALOX12B	ORPHA:79394
HP:0002814	Abnormality of the lower limb	59344	ALOXE3	OMIM:242100
HP:0002814	Abnormality of the lower limb	59344	ALOXE3	OMIM:606545
HP:0002814	Abnormality of the lower limb	59344	ALOXE3	ORPHA:79394
HP:0002814	Abnormality of the lower limb	126410	CYP4F22	OMIM:604777
HP:0002814	Abnormality of the lower limb	348938	NIPAL4	OMIM:612281
HP:0002814	Abnormality of the lower limb	348938	NIPAL4	ORPHA:79394
HP:0002814	Abnormality of the lower limb	25959	KANK2	OMIM:616099
HP:0002814	Abnormality of the lower limb	1493	CTLA4	ORPHA:3162
HP:0002814	Abnormality of the lower limb	940	CD28	ORPHA:3162
HP:0002814	Abnormality of the lower limb	7133	TNFRSF1B	ORPHA:3162
HP:0002814	Abnormality of the lower limb	79977	GRHL2	OMIM:616029
HP:0002814	Abnormality of the lower limb	55135	WRAP53	ORPHA:1775
HP:0002814	Abnormality of the lower limb	51750	RTEL1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	4869	NPM1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	7012	TERC	ORPHA:1775
HP:0002814	Abnormality of the lower limb	5073	PARN	ORPHA:1775
HP:0002814	Abnormality of the lower limb	1736	DKC1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	7298	TYMS	ORPHA:1775
HP:0002814	Abnormality of the lower limb	204219	CERS3	ORPHA:79394
HP:0002814	Abnormality of the lower limb	9361	LONP1	OMIM:600373
HP:0002814	Abnormality of the lower limb	9361	LONP1	ORPHA:1458
HP:0002814	Abnormality of the lower limb	6261	RYR1	ORPHA:597
HP:0002814	Abnormality of the lower limb	6261	RYR1	OMIM:117000
HP:0002814	Abnormality of the lower limb	64840	PORCN	OMIM:305600
HP:0002814	Abnormality of the lower limb	6628	SNRPB	OMIM:117650
HP:0002814	Abnormality of the lower limb	5351	PLOD1	OMIM:225400
HP:0002814	Abnormality of the lower limb	134218	DNAJC21	OMIM:617052
HP:0002814	Abnormality of the lower limb	1182	CLCN3	OMIM:619512
HP:0002814	Abnormality of the lower limb	63895	PIEZO2	OMIM:114300
HP:0002814	Abnormality of the lower limb	2138	EYA1	OMIM:113650
HP:0002814	Abnormality of the lower limb	6495	SIX1	OMIM:113650
HP:0002814	Abnormality of the lower limb	84627	ZNF469	OMIM:229200
HP:0002814	Abnormality of the lower limb	55699	IARS2	OMIM:616007
HP:0002814	Abnormality of the lower limb	5048	PAFAH1B1	ORPHA:217385
HP:0002814	Abnormality of the lower limb	7531	YWHAE	ORPHA:217385
HP:0002814	Abnormality of the lower limb	6885	MAP3K7	OMIM:617137
HP:0002814	Abnormality of the lower limb	9820	CUL7	ORPHA:2616
HP:0002814	Abnormality of the lower limb	23363	OBSL1	ORPHA:2616
HP:0002814	Abnormality of the lower limb	83987	CCDC8	ORPHA:2616
HP:0002814	Abnormality of the lower limb	8239	USP9X	ORPHA:480880
HP:0002814	Abnormality of the lower limb	8195	MKKS	OMIM:236700
HP:0002814	Abnormality of the lower limb	1131	CHRM3	ORPHA:2970
HP:0002814	Abnormality of the lower limb	1131	CHRM3	OMIM:100100
HP:0002814	Abnormality of the lower limb	10060	ABCC9	OMIM:619719
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	OMIM:219200
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	ORPHA:357074
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	ORPHA:2834
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	OMIM:278250
HP:0002814	Abnormality of the lower limb	9401	RECQL4	OMIM:268400
HP:0002814	Abnormality of the lower limb	89910	UBE3B	OMIM:244450
HP:0002814	Abnormality of the lower limb	1723	DHODH	OMIM:263750
HP:0002814	Abnormality of the lower limb	60482	SLC5A7	ORPHA:98914
HP:0002814	Abnormality of the lower limb	4649	MYO9A	ORPHA:98914
HP:0002814	Abnormality of the lower limb	1305	COL13A1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	1103	CHAT	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6576	SLC25A1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6843	VAMP1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	375790	AGRN	ORPHA:98914
HP:0002814	Abnormality of the lower limb	127833	SYT2	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6572	SLC18A3	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6616	SNAP25	ORPHA:98914
HP:0002814	Abnormality of the lower limb	5832	ALDH18A1	OMIM:219150
HP:0002814	Abnormality of the lower limb	55768	NGLY1	ORPHA:404454
HP:0002814	Abnormality of the lower limb	2316	FLNA	OMIM:304120
HP:0002814	Abnormality of the lower limb	2273	FHL1	OMIM:300280
HP:0002814	Abnormality of the lower limb	7169	TPM2	OMIM:108120
HP:0002814	Abnormality of the lower limb	7169	TPM2	ORPHA:2020
HP:0002814	Abnormality of the lower limb	6904	TBCD	ORPHA:496641
HP:0002814	Abnormality of the lower limb	7547	ZIC3	OMIM:306955
HP:0002814	Abnormality of the lower limb	3835	KIF22	OMIM:603546
HP:0002814	Abnormality of the lower limb	2239	GPC4	ORPHA:373
HP:0002814	Abnormality of the lower limb	2719	GPC3	ORPHA:373
HP:0002814	Abnormality of the lower limb	7476	WNT7A	OMIM:228930
HP:0002814	Abnormality of the lower limb	1290	COL5A2	OMIM:130010
HP:0002814	Abnormality of the lower limb	523	ATP6V1A	ORPHA:357074
HP:0002814	Abnormality of the lower limb	529	ATP6V1E1	ORPHA:357074
HP:0002814	Abnormality of the lower limb	5528	PPP2R5D	ORPHA:457279
HP:0002814	Abnormality of the lower limb	5528	PPP2R5D	OMIM:616355
HP:0002814	Abnormality of the lower limb	8260	NAA10	OMIM:300855
HP:0002814	Abnormality of the lower limb	23522	KAT6B	OMIM:606170
HP:0002814	Abnormality of the lower limb	5831	PYCR1	OMIM:612940
HP:0002814	Abnormality of the lower limb	50628	GEMIN4	OMIM:617913
HP:0002814	Abnormality of the lower limb	3339	HSPG2	OMIM:255800
HP:0002814	Abnormality of the lower limb	9896	FIG4	OMIM:216340
HP:0002814	Abnormality of the lower limb	1281	COL3A1	ORPHA:286
HP:0002814	Abnormality of the lower limb	57190	SELENON	ORPHA:2020
HP:0002814	Abnormality of the lower limb	58	ACTA1	ORPHA:2020
HP:0002814	Abnormality of the lower limb	4633	MYL2	ORPHA:2020
HP:0002814	Abnormality of the lower limb	3679	ITGA7	ORPHA:2020
HP:0002814	Abnormality of the lower limb	9200	HACD1	ORPHA:2020
HP:0002814	Abnormality of the lower limb	7170	TPM3	ORPHA:2020
HP:0002814	Abnormality of the lower limb	7170	TPM3	OMIM:255310
HP:0002814	Abnormality of the lower limb	51651	PTRH2	ORPHA:456312
HP:0002814	Abnormality of the lower limb	9427	ECEL1	OMIM:615065
HP:0002814	Abnormality of the lower limb	7067	THRA	OMIM:614450
HP:0002814	Abnormality of the lower limb	8085	KMT2D	OMIM:147920
HP:0002814	Abnormality of the lower limb	7403	KDM6A	OMIM:147920
HP:0002814	Abnormality of the lower limb	8838	CCN6	ORPHA:1159
HP:0002814	Abnormality of the lower limb	6775	STAT4	ORPHA:85408
HP:0002814	Abnormality of the lower limb	3560	IL2RB	ORPHA:85408
HP:0002814	Abnormality of the lower limb	79722	ANKRD55	ORPHA:85408
HP:0002814	Abnormality of the lower limb	26191	PTPN22	ORPHA:85408
HP:0002814	Abnormality of the lower limb	919	CD247	ORPHA:85408
HP:0002814	Abnormality of the lower limb	3559	IL2RA	ORPHA:85408
HP:0002814	Abnormality of the lower limb	5771	PTPN2	ORPHA:85408
HP:0002814	Abnormality of the lower limb	5167	ENPP1	ORPHA:51608
HP:0002814	Abnormality of the lower limb	368	ABCC6	ORPHA:51608
HP:0002814	Abnormality of the lower limb	1299	COL9A3	OMIM:600969
HP:0002814	Abnormality of the lower limb	57104	PNPLA2	ORPHA:565612
HP:0002814	Abnormality of the lower limb	22943	DKK1	ORPHA:268882
HP:0002814	Abnormality of the lower limb	29957	SLC25A24	ORPHA:2095
HP:0002814	Abnormality of the lower limb	6873	TAF2	OMIM:615599
HP:0002814	Abnormality of the lower limb	6873	TAF2	ORPHA:397951
HP:0002814	Abnormality of the lower limb	9508	ADAMTS3	ORPHA:2136
HP:0002814	Abnormality of the lower limb	51259	TMEM216	OMIM:608091
HP:0002814	Abnormality of the lower limb	6571	SLC18A2	ORPHA:352649
HP:0002814	Abnormality of the lower limb	80025	PANK2	OMIM:234200
HP:0002814	Abnormality of the lower limb	10479	SLC9A6	OMIM:300243
HP:0002814	Abnormality of the lower limb	84162	BLTP1	OMIM:617822
HP:0002814	Abnormality of the lower limb	7443	VRK1	OMIM:607596
HP:0002814	Abnormality of the lower limb	8565	YARS1	OMIM:608323
HP:0002814	Abnormality of the lower limb	26503	SLC17A5	OMIM:269920
HP:0002814	Abnormality of the lower limb	1107	CHD3	OMIM:618205
HP:0002814	Abnormality of the lower limb	23389	MED13L	ORPHA:369891
HP:0002814	Abnormality of the lower limb	7469	NELFA	ORPHA:280
HP:0002814	Abnormality of the lower limb	26053	AUTS2	ORPHA:352490
HP:0002814	Abnormality of the lower limb	7305	TYROBP	OMIM:221770
HP:0002814	Abnormality of the lower limb	23400	ATP13A2	ORPHA:306674
HP:0002814	Abnormality of the lower limb	22948	CCT5	OMIM:256840
HP:0002814	Abnormality of the lower limb	2395	FXN	ORPHA:95
HP:0002814	Abnormality of the lower limb	23769	FLRT1	ORPHA:320406
HP:0002814	Abnormality of the lower limb	64837	KLC2	ORPHA:320406
HP:0002814	Abnormality of the lower limb	64837	KLC2	OMIM:609541
HP:0002814	Abnormality of the lower limb	6535	SLC6A8	OMIM:300352
HP:0002814	Abnormality of the lower limb	80821	DDHD1	OMIM:609340
HP:0002814	Abnormality of the lower limb	80821	DDHD1	ORPHA:101008
HP:0002814	Abnormality of the lower limb	5111	PCNA	OMIM:615919
HP:0002814	Abnormality of the lower limb	6687	SPG7	ORPHA:99013
HP:0002814	Abnormality of the lower limb	6687	SPG7	OMIM:607259
HP:0002814	Abnormality of the lower limb	5631	PRPS1	ORPHA:99014
HP:0002814	Abnormality of the lower limb	5631	PRPS1	OMIM:311070
HP:0002814	Abnormality of the lower limb	3074	HEXB	ORPHA:309162
HP:0002814	Abnormality of the lower limb	80232	WDR26	ORPHA:513456
HP:0002814	Abnormality of the lower limb	80232	WDR26	OMIM:617616
HP:0002814	Abnormality of the lower limb	128486	FITM2	OMIM:618635
HP:0002814	Abnormality of the lower limb	9197	SLC33A1	OMIM:612539
HP:0002814	Abnormality of the lower limb	9197	SLC33A1	ORPHA:171863
HP:0002814	Abnormality of the lower limb	55154	MSTO1	OMIM:617675
HP:0002814	Abnormality of the lower limb	55154	MSTO1	ORPHA:502423
HP:0002814	Abnormality of the lower limb	55187	VPS13D	ORPHA:95434
HP:0002814	Abnormality of the lower limb	55187	VPS13D	OMIM:607317
HP:0002814	Abnormality of the lower limb	27072	VPS41	ORPHA:95434
HP:0002814	Abnormality of the lower limb	823	CAPN1	OMIM:616907
HP:0002814	Abnormality of the lower limb	823	CAPN1	ORPHA:488594
HP:0002814	Abnormality of the lower limb	7274	TTPA	ORPHA:96
HP:0002814	Abnormality of the lower limb	2903	GRIN2A	ORPHA:289266
HP:0002814	Abnormality of the lower limb	2903	GRIN2A	OMIM:245570
HP:0002814	Abnormality of the lower limb	51271	UBAP1	OMIM:618418
HP:0002814	Abnormality of the lower limb	51271	UBAP1	ORPHA:100993
HP:0002814	Abnormality of the lower limb	3735	KARS1	OMIM:613641
HP:0002814	Abnormality of the lower limb	2629	GBA1	OMIM:231005
HP:0002814	Abnormality of the lower limb	2629	GBA1	ORPHA:2072
HP:0002814	Abnormality of the lower limb	54840	APTX	OMIM:208920
HP:0002814	Abnormality of the lower limb	5192	PEX10	ORPHA:247815
HP:0002814	Abnormality of the lower limb	5192	PEX10	OMIM:614871
HP:0002814	Abnormality of the lower limb	3475	IFRD1	ORPHA:98771
HP:0002814	Abnormality of the lower limb	23312	DMXL2	ORPHA:453533
HP:0002814	Abnormality of the lower limb	4744	NEFH	OMIM:616924
HP:0002814	Abnormality of the lower limb	2259	FGF14	ORPHA:98764
HP:0002814	Abnormality of the lower limb	2259	FGF14	OMIM:193003
HP:0002814	Abnormality of the lower limb	23503	ZFYVE26	OMIM:270700
HP:0002814	Abnormality of the lower limb	23503	ZFYVE26	ORPHA:100996
HP:0002814	Abnormality of the lower limb	56652	TWNK	OMIM:616138
HP:0002814	Abnormality of the lower limb	56652	TWNK	OMIM:607459
HP:0002814	Abnormality of the lower limb	55129	ANO10	ORPHA:284289
HP:0002814	Abnormality of the lower limb	55129	ANO10	OMIM:613728
HP:0002814	Abnormality of the lower limb	4677	NARS1	OMIM:619092
HP:0002814	Abnormality of the lower limb	3423	IDS	OMIM:309900
HP:0002814	Abnormality of the lower limb	3300	DNAJB2	OMIM:614881
HP:0002814	Abnormality of the lower limb	390594	KBTBD13	ORPHA:171439
HP:0002814	Abnormality of the lower limb	57704	GBA2	OMIM:614409
HP:0002814	Abnormality of the lower limb	57704	GBA2	ORPHA:352641
HP:0002814	Abnormality of the lower limb	57704	GBA2	ORPHA:320391
HP:0002814	Abnormality of the lower limb	85021	REPS1	OMIM:617916
HP:0002814	Abnormality of the lower limb	84188	FAR1	ORPHA:447753
HP:0002814	Abnormality of the lower limb	6253	RTN2	ORPHA:100993
HP:0002814	Abnormality of the lower limb	6253	RTN2	OMIM:604805
HP:0002814	Abnormality of the lower limb	3329	HSPD1	ORPHA:100994
HP:0002814	Abnormality of the lower limb	5428	POLG	OMIM:607459
HP:0002814	Abnormality of the lower limb	5428	POLG	OMIM:258450
HP:0002814	Abnormality of the lower limb	5428	POLG	OMIM:157640
HP:0002814	Abnormality of the lower limb	3798	KIF5A	ORPHA:100991
HP:0002814	Abnormality of the lower limb	3798	KIF5A	OMIM:604187
HP:0002814	Abnormality of the lower limb	10533	ATG7	OMIM:619422
HP:0002814	Abnormality of the lower limb	3991	LIPE	OMIM:615980
HP:0002814	Abnormality of the lower limb	1337	COX6A1	OMIM:616039
HP:0002814	Abnormality of the lower limb	2583	B4GALNT1	OMIM:609195
HP:0002814	Abnormality of the lower limb	2583	B4GALNT1	ORPHA:101006
HP:0002814	Abnormality of the lower limb	51308	REEP2	OMIM:615625
HP:0002814	Abnormality of the lower limb	51308	REEP2	ORPHA:401849
HP:0002814	Abnormality of the lower limb	23064	SETX	OMIM:606002
HP:0002814	Abnormality of the lower limb	23064	SETX	ORPHA:357043
HP:0002814	Abnormality of the lower limb	80207	OPA3	ORPHA:67036
HP:0002814	Abnormality of the lower limb	6683	SPAST	ORPHA:100985
HP:0002814	Abnormality of the lower limb	9420	CYP7B1	ORPHA:100986
HP:0002814	Abnormality of the lower limb	9420	CYP7B1	OMIM:270800
HP:0002814	Abnormality of the lower limb	123606	NIPA1	ORPHA:100988
HP:0002814	Abnormality of the lower limb	123606	NIPA1	OMIM:600363
HP:0002814	Abnormality of the lower limb	2581	GALC	ORPHA:206443
HP:0002814	Abnormality of the lower limb	2581	GALC	ORPHA:206448
HP:0002814	Abnormality of the lower limb	5610	EIF2AK2	OMIM:619687
HP:0002814	Abnormality of the lower limb	4131	MAP1B	OMIM:618918
HP:0002814	Abnormality of the lower limb	8888	MCM3AP	OMIM:618124
HP:0002814	Abnormality of the lower limb	182	JAG1	OMIM:619574
HP:0002814	Abnormality of the lower limb	5160	PDHA1	ORPHA:79243
HP:0002814	Abnormality of the lower limb	7703	PCGF2	OMIM:618371
HP:0002814	Abnormality of the lower limb	112812	FDX2	OMIM:251900
HP:0002814	Abnormality of the lower limb	4361	MRE11	ORPHA:251347
HP:0002814	Abnormality of the lower limb	5293	PIK3CD	ORPHA:221139
HP:0002814	Abnormality of the lower limb	90417	KNSTRN	ORPHA:221139
HP:0002814	Abnormality of the lower limb	7507	XPA	OMIM:278700
HP:0002814	Abnormality of the lower limb	26047	CNTNAP2	ORPHA:163681
HP:0002814	Abnormality of the lower limb	9829	DNAJC6	ORPHA:391411
HP:0002814	Abnormality of the lower limb	5420	PODXL	ORPHA:391411
HP:0002814	Abnormality of the lower limb	8867	SYNJ1	ORPHA:391411
HP:0002814	Abnormality of the lower limb	476	ATP1A1	OMIM:618036
HP:0002814	Abnormality of the lower limb	219285	SAMD9L	OMIM:619806
HP:0002814	Abnormality of the lower limb	9516	LITAF	OMIM:601098
HP:0002814	Abnormality of the lower limb	10558	SPTLC1	OMIM:162400
HP:0002814	Abnormality of the lower limb	3920	LAMP2	OMIM:300257
HP:0002814	Abnormality of the lower limb	7518	XRCC4	OMIM:616541
HP:0002814	Abnormality of the lower limb	5354	PLP1	OMIM:312920
HP:0002814	Abnormality of the lower limb	54936	ADPRS	OMIM:618170
HP:0002814	Abnormality of the lower limb	3839	KPNA3	ORPHA:171612
HP:0002814	Abnormality of the lower limb	55753	OGDHL	OMIM:619701
HP:0002814	Abnormality of the lower limb	9570	GOSR2	OMIM:614018
HP:0002814	Abnormality of the lower limb	50846	DHH	ORPHA:168563
HP:0002814	Abnormality of the lower limb	9853	RUSC2	OMIM:617773
HP:0002814	Abnormality of the lower limb	3008	H1-4	OMIM:617537
HP:0002814	Abnormality of the lower limb	84942	WDR73	OMIM:251300
HP:0002814	Abnormality of the lower limb	4487	MSX1	ORPHA:199302
HP:0002814	Abnormality of the lower limb	56704	JPH1	OMIM:607831
HP:0002814	Abnormality of the lower limb	2073	ERCC5	OMIM:616570
HP:0002814	Abnormality of the lower limb	64412	GZF1	OMIM:617662
HP:0002814	Abnormality of the lower limb	51111	KMT5B	OMIM:617788
HP:0002814	Abnormality of the lower limb	84466	MEGF10	OMIM:614399
HP:0002814	Abnormality of the lower limb	3508	IGHMBP2	OMIM:604320
HP:0002814	Abnormality of the lower limb	3508	IGHMBP2	OMIM:616155
HP:0002814	Abnormality of the lower limb	57231	SNX14	ORPHA:397709
HP:0002814	Abnormality of the lower limb	57231	SNX14	OMIM:616354
HP:0002814	Abnormality of the lower limb	5189	PEX1	OMIM:214100
HP:0002814	Abnormality of the lower limb	129685	TAF8	OMIM:619972
HP:0002814	Abnormality of the lower limb	10606	PAICS	OMIM:619859
HP:0002814	Abnormality of the lower limb	57498	KIDINS220	OMIM:619501
HP:0002814	Abnormality of the lower limb	5442	POLRMT	OMIM:619743
HP:0002814	Abnormality of the lower limb	1123	CHN1	ORPHA:233
HP:0002814	Abnormality of the lower limb	91574	MTRFR	OMIM:615035
HP:0002814	Abnormality of the lower limb	91574	MTRFR	ORPHA:320375
HP:0002814	Abnormality of the lower limb	7862	BRPF1	OMIM:617333
HP:0002814	Abnormality of the lower limb	286	ANK1	ORPHA:251066
HP:0002814	Abnormality of the lower limb	8898	MTMR2	OMIM:601382
HP:0002814	Abnormality of the lower limb	8314	BAP1	OMIM:619762
HP:0002814	Abnormality of the lower limb	6901	TAFAZZIN	OMIM:302060
HP:0002814	Abnormality of the lower limb	79053	ALG8	ORPHA:79325
HP:0002814	Abnormality of the lower limb	79053	ALG8	OMIM:608104
HP:0002814	Abnormality of the lower limb	10195	ALG3	OMIM:601110
HP:0002814	Abnormality of the lower limb	1917	EEF1A2	OMIM:616393
HP:0002814	Abnormality of the lower limb	389827	MYMK	OMIM:254940
HP:0002814	Abnormality of the lower limb	389827	MYMK	ORPHA:1358
HP:0002814	Abnormality of the lower limb	9488	PIGB	OMIM:618580
HP:0002814	Abnormality of the lower limb	160418	TMTC3	OMIM:617255
HP:0002814	Abnormality of the lower limb	9256	TSPOAP1	ORPHA:101150
HP:0002814	Abnormality of the lower limb	7054	TH	ORPHA:101150
HP:0002814	Abnormality of the lower limb	10733	PLK4	OMIM:616171
HP:0002814	Abnormality of the lower limb	1491	CTH	ORPHA:212
HP:0002814	Abnormality of the lower limb	5980	REV3L	ORPHA:570
HP:0002814	Abnormality of the lower limb	23129	PLXND1	ORPHA:570
HP:0002814	Abnormality of the lower limb	3039	HBA1	ORPHA:98791
HP:0002814	Abnormality of the lower limb	3040	HBA2	ORPHA:98791
HP:0002814	Abnormality of the lower limb	1312	COMT	ORPHA:567
HP:0002814	Abnormality of the lower limb	221037	JMJD1C	ORPHA:567
HP:0002814	Abnormality of the lower limb	2812	GP1BB	ORPHA:567
HP:0002814	Abnormality of the lower limb	6239	RREB1	ORPHA:567
HP:0002814	Abnormality of the lower limb	7290	HIRA	ORPHA:567
HP:0002814	Abnormality of the lower limb	9632	SEC24C	ORPHA:567
HP:0002814	Abnormality of the lower limb	7353	UFD1	ORPHA:567
HP:0002814	Abnormality of the lower limb	421	ARVCF	ORPHA:567
HP:0002814	Abnormality of the lower limb	2064	ERBB2	OMIM:619465
HP:0002814	Abnormality of the lower limb	80347	COASY	OMIM:618266
HP:0002814	Abnormality of the lower limb	54809	SAMD9	OMIM:617053
HP:0002814	Abnormality of the lower limb	113189	CHST14	OMIM:601776
HP:0002814	Abnormality of the lower limb	2571	GAD1	OMIM:619124
HP:0002814	Abnormality of the lower limb	80267	EDEM3	OMIM:619493
HP:0002814	Abnormality of the lower limb	2733	GLE1	OMIM:611890
HP:0002814	Abnormality of the lower limb	60386	SLC25A19	OMIM:613710
HP:0002814	Abnormality of the lower limb	1968	EIF2S3	ORPHA:85282
HP:0002814	Abnormality of the lower limb	25793	FBXO7	OMIM:260300
HP:0002814	Abnormality of the lower limb	25793	FBXO7	ORPHA:171695
HP:0002814	Abnormality of the lower limb	4233	MET	OMIM:620019
HP:0002814	Abnormality of the lower limb	2643	GCH1	OMIM:128230
HP:0002814	Abnormality of the lower limb	2643	GCH1	ORPHA:98808
HP:0002814	Abnormality of the lower limb	80199	FUZ	ORPHA:3027
HP:0002814	Abnormality of the lower limb	22858	CILK1	OMIM:612651
HP:0002814	Abnormality of the lower limb	55788	LMBRD1	OMIM:277380
HP:0002814	Abnormality of the lower limb	274	BIN1	OMIM:255200
HP:0002814	Abnormality of the lower limb	274	BIN1	ORPHA:169186
HP:0002814	Abnormality of the lower limb	118813	ZFYVE27	OMIM:610244
HP:0002814	Abnormality of the lower limb	79813	EHMT1	OMIM:610253
HP:0002814	Abnormality of the lower limb	79867	TCTN2	OMIM:613885
HP:0002814	Abnormality of the lower limb	79867	TCTN2	OMIM:616654
HP:0002814	Abnormality of the lower limb	4593	MUSK	OMIM:208150
HP:0002814	Abnormality of the lower limb	5828	PEX2	OMIM:614866
HP:0002814	Abnormality of the lower limb	79753	SNIP1	OMIM:614501
HP:0002814	Abnormality of the lower limb	55670	PEX26	OMIM:614872
HP:0002814	Abnormality of the lower limb	9101	USP8	ORPHA:401795
HP:0002814	Abnormality of the lower limb	6611	SMS	OMIM:309583
HP:0002814	Abnormality of the lower limb	55679	LIMS2	OMIM:616827
HP:0002814	Abnormality of the lower limb	6622	SNCA	ORPHA:171695
HP:0002814	Abnormality of the lower limb	667	DST	OMIM:614653
HP:0002814	Abnormality of the lower limb	10290	SPEG	ORPHA:169186
HP:0002814	Abnormality of the lower limb	54820	NDE1	OMIM:605013
HP:0002814	Abnormality of the lower limb	2891	GRIA2	OMIM:618917
HP:0002814	Abnormality of the lower limb	101929726	MYMX	ORPHA:1358
HP:0002814	Abnormality of the lower limb	5530	PPP3CA	OMIM:617711
HP:0002814	Abnormality of the lower limb	57211	ADGRG6	OMIM:616503
HP:0002814	Abnormality of the lower limb	284086	NEK8	OMIM:615415
HP:0002814	Abnormality of the lower limb	27077	B9D1	OMIM:614209
HP:0002814	Abnormality of the lower limb	79576	NKAP	OMIM:301039
HP:0002814	Abnormality of the lower limb	9419	CRIPT	OMIM:615789
HP:0002814	Abnormality of the lower limb	340075	ARSI	ORPHA:401815
HP:0002814	Abnormality of the lower limb	57545	CC2D2A	OMIM:612284
HP:0002814	Abnormality of the lower limb	4929	NR4A2	ORPHA:98808
HP:0002814	Abnormality of the lower limb	3615	IMPDH2	ORPHA:98808
HP:0002814	Abnormality of the lower limb	953	ENTPD1	OMIM:615683
HP:0002814	Abnormality of the lower limb	10293	TRAIP	OMIM:616777
HP:0002814	Abnormality of the lower limb	54676	GTPBP2	OMIM:617988
HP:0002814	Abnormality of the lower limb	139285	AMER1	OMIM:300373
HP:0002814	Abnormality of the lower limb	55191	NADSYN1	OMIM:618845
HP:0002814	Abnormality of the lower limb	1807	DPYS	OMIM:222748
HP:0002814	Abnormality of the lower limb	8367	H4C5	OMIM:619950
HP:0002814	Abnormality of the lower limb	83932	SPRTN	OMIM:616200
HP:0002814	Abnormality of the lower limb	128674	PROKR2	OMIM:244200
HP:0002814	Abnormality of the lower limb	128674	PROKR2	ORPHA:478
HP:0002814	Abnormality of the lower limb	51126	NAA20	OMIM:619717
HP:0002814	Abnormality of the lower limb	2904	GRIN2B	OMIM:613970
HP:0002814	Abnormality of the lower limb	10159	ATP6AP2	ORPHA:93952
HP:0002814	Abnormality of the lower limb	116931	MED12L	OMIM:618872
HP:0002814	Abnormality of the lower limb	80816	ASXL3	OMIM:615485
HP:0002814	Abnormality of the lower limb	80816	ASXL3	ORPHA:352577
HP:0002814	Abnormality of the lower limb	55690	PACS1	OMIM:615009
HP:0002814	Abnormality of the lower limb	55690	PACS1	ORPHA:329224
HP:0002814	Abnormality of the lower limb	7345	UCHL1	OMIM:615491
HP:0002814	Abnormality of the lower limb	54453	RIN2	OMIM:613075
HP:0002814	Abnormality of the lower limb	54453	RIN2	ORPHA:217335
HP:0002814	Abnormality of the lower limb	84665	MYPN	ORPHA:171881
HP:0002814	Abnormality of the lower limb	7436	VLDLR	OMIM:224050
HP:0002814	Abnormality of the lower limb	1801	DPH1	OMIM:616901
HP:0002814	Abnormality of the lower limb	1801	DPH1	ORPHA:459061
HP:0002814	Abnormality of the lower limb	1183	CLCN4	ORPHA:485350
HP:0002814	Abnormality of the lower limb	7840	ALMS1	OMIM:203800
HP:0002814	Abnormality of the lower limb	7840	ALMS1	ORPHA:64
HP:0002814	Abnormality of the lower limb	10484	SEC23A	OMIM:607812
HP:0002814	Abnormality of the lower limb	10484	SEC23A	ORPHA:50814
HP:0002814	Abnormality of the lower limb	23203	PMPCA	ORPHA:1170
HP:0002814	Abnormality of the lower limb	6999	TDO2	OMIM:600627
HP:0002814	Abnormality of the lower limb	54872	PIGG	ORPHA:488635
HP:0002814	Abnormality of the lower limb	3340	NDST1	OMIM:616116
HP:0002814	Abnormality of the lower limb	200734	SPRED2	OMIM:619745
HP:0002814	Abnormality of the lower limb	124512	METTL23	OMIM:615942
HP:0002814	Abnormality of the lower limb	175	AGA	ORPHA:93
HP:0002814	Abnormality of the lower limb	51114	ZDHHC9	OMIM:300799
HP:0002814	Abnormality of the lower limb	55621	TRMT1	OMIM:618302
HP:0002814	Abnormality of the lower limb	55773	TBC1D23	OMIM:617695
HP:0002814	Abnormality of the lower limb	57680	CHD8	OMIM:615032
HP:0002814	Abnormality of the lower limb	8558	CDK10	OMIM:617694
HP:0002814	Abnormality of the lower limb	8363	H4C11	OMIM:619759
HP:0002814	Abnormality of the lower limb	57863	CADM3	OMIM:619519
HP:0002814	Abnormality of the lower limb	54499	TMCO1	OMIM:213980
HP:0002814	Abnormality of the lower limb	23137	SMC5	OMIM:620185
HP:0002814	Abnormality of the lower limb	51611	DPH5	OMIM:620070
HP:0002814	Abnormality of the lower limb	1742	DLG4	OMIM:618793
HP:0002814	Abnormality of the lower limb	4849	CNOT3	OMIM:618672
HP:0002814	Abnormality of the lower limb	9158	FIBP	OMIM:617107
HP:0002814	Abnormality of the lower limb	200424	TET3	OMIM:618798
HP:0002814	Abnormality of the lower limb	2542	SLC37A4	OMIM:619525
HP:0002814	Abnormality of the lower limb	11107	PRDM5	ORPHA:90354
HP:0002814	Abnormality of the lower limb	5373	PMM2	ORPHA:79318
HP:0002814	Abnormality of the lower limb	254065	BRWD3	OMIM:300659
HP:0002814	Abnormality of the lower limb	51322	WAC	ORPHA:466950
HP:0002814	Abnormality of the lower limb	387733	IFITM5	OMIM:610967
HP:0002814	Abnormality of the lower limb	6567	SLC16A2	ORPHA:59
HP:0002814	Abnormality of the lower limb	6567	SLC16A2	OMIM:300523
HP:0002814	Abnormality of the lower limb	3897	L1CAM	OMIM:304100
HP:0002814	Abnormality of the lower limb	4883	NPR3	OMIM:619543
HP:0002814	Abnormality of the lower limb	54344	DPM3	ORPHA:263494
HP:0002814	Abnormality of the lower limb	7046	TGFBR1	ORPHA:60030
HP:0002814	Abnormality of the lower limb	7046	TGFBR1	ORPHA:91387
HP:0002814	Abnormality of the lower limb	170302	ARX	OMIM:300419
HP:0002814	Abnormality of the lower limb	22907	DHX30	OMIM:617804
HP:0002814	Abnormality of the lower limb	79628	SH3TC2	ORPHA:99949
HP:0002814	Abnormality of the lower limb	10371	SEMA3A	ORPHA:478
HP:0002814	Abnormality of the lower limb	81848	SPRY4	ORPHA:478
HP:0002814	Abnormality of the lower limb	23767	FLRT3	ORPHA:478
HP:0002814	Abnormality of the lower limb	79625	NDNF	ORPHA:478
HP:0002814	Abnormality of the lower limb	389549	FEZF1	ORPHA:478
HP:0002814	Abnormality of the lower limb	1630	DCC	ORPHA:478
HP:0002814	Abnormality of the lower limb	3730	ANOS1	ORPHA:478
HP:0002814	Abnormality of the lower limb	54756	IL17RD	ORPHA:478
HP:0002814	Abnormality of the lower limb	6663	SOX10	ORPHA:478
HP:0002814	Abnormality of the lower limb	285025	CCDC141	ORPHA:478
HP:0002814	Abnormality of the lower limb	60675	PROK2	ORPHA:478
HP:0002814	Abnormality of the lower limb	1848	DUSP6	ORPHA:478
HP:0002814	Abnormality of the lower limb	6870	TACR3	ORPHA:478
HP:0002814	Abnormality of the lower limb	55717	WDR11	ORPHA:478
HP:0002814	Abnormality of the lower limb	8822	FGF17	ORPHA:478
HP:0002814	Abnormality of the lower limb	8925	HERC1	OMIM:617011
HP:0002814	Abnormality of the lower limb	8925	HERC1	ORPHA:457359
HP:0002814	Abnormality of the lower limb	2290	FOXG1	OMIM:613454
HP:0002814	Abnormality of the lower limb	55315	SLC29A3	OMIM:602782
HP:0002814	Abnormality of the lower limb	55315	SLC29A3	ORPHA:168569
HP:0002814	Abnormality of the lower limb	7707	ZNF148	OMIM:617260
HP:0002814	Abnormality of the lower limb	2782	GNB1	OMIM:616973
HP:0002814	Abnormality of the lower limb	3097	HIVEP2	OMIM:616977
HP:0002814	Abnormality of the lower limb	5010	CLDN11	OMIM:619328
HP:0002814	Abnormality of the lower limb	55033	FKBP14	OMIM:614557
HP:0002814	Abnormality of the lower limb	55033	FKBP14	ORPHA:300179
HP:0002814	Abnormality of the lower limb	6301	SARS1	OMIM:617709
HP:0002814	Abnormality of the lower limb	5190	PEX6	OMIM:616617
HP:0002814	Abnormality of the lower limb	84679	SLC9A7	OMIM:301024
HP:0002814	Abnormality of the lower limb	57551	TAOK1	OMIM:619575
HP:0002814	Abnormality of the lower limb	51132	RLIM	OMIM:300978
HP:0002814	Abnormality of the lower limb	191	AHCY	ORPHA:88618
HP:0002814	Abnormality of the lower limb	2906	GRIN2D	OMIM:617162
HP:0002814	Abnormality of the lower limb	3188	HNRNPH2	OMIM:300986
HP:0002814	Abnormality of the lower limb	25	ABL1	OMIM:617602
HP:0002814	Abnormality of the lower limb	2475	MTOR	ORPHA:457485
HP:0002814	Abnormality of the lower limb	23152	CIC	OMIM:617600
HP:0002814	Abnormality of the lower limb	9244	CRLF1	OMIM:272430
HP:0002814	Abnormality of the lower limb	8812	CCNK	OMIM:618147
HP:0002814	Abnormality of the lower limb	2554	GABRA1	ORPHA:33069
HP:0002814	Abnormality of the lower limb	57526	PCDH19	ORPHA:33069
HP:0002814	Abnormality of the lower limb	10283	CWC27	ORPHA:166035
HP:0002814	Abnormality of the lower limb	10220	GDF11	OMIM:619122
HP:0002814	Abnormality of the lower limb	22995	CEP152	OMIM:613823
HP:0002814	Abnormality of the lower limb	1315	COPB1	OMIM:619255
HP:0002814	Abnormality of the lower limb	1984	EIF5A	OMIM:619376
HP:0002814	Abnormality of the lower limb	9997	SCO2	ORPHA:521411
HP:0002814	Abnormality of the lower limb	23133	PHF8	OMIM:300263
HP:0002814	Abnormality of the lower limb	11011	TLK2	OMIM:618050
HP:0002814	Abnormality of the lower limb	8665	EIF3F	OMIM:618295
HP:0002814	Abnormality of the lower limb	4629	MYH11	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4015	LOX	ORPHA:91387
HP:0002814	Abnormality of the lower limb	59	ACTA2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	5592	PRKG1	ORPHA:91387
HP:0002814	Abnormality of the lower limb	2301	FOXE3	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4144	MAT2A	ORPHA:91387
HP:0002814	Abnormality of the lower limb	23493	HEY2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	8076	MFAP5	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4638	MYLK	ORPHA:91387
HP:0002814	Abnormality of the lower limb	65260	COA7	OMIM:618387
HP:0002814	Abnormality of the lower limb	112	ADCY6	OMIM:616287
HP:0002814	Abnormality of the lower limb	50717	DCAF8	OMIM:610100
HP:0002814	Abnormality of the lower limb	23095	KIF1B	OMIM:118210
HP:0002814	Abnormality of the lower limb	8566	PDXK	OMIM:618511
HP:0002814	Abnormality of the lower limb	90678	LRSAM1	OMIM:614436
HP:0002814	Abnormality of the lower limb	11261	CHP1	OMIM:618438
HP:0002814	Abnormality of the lower limb	3710	ITPR3	OMIM:620111
HP:0002814	Abnormality of the lower limb	10280	SIGMAR1	OMIM:605726
HP:0002814	Abnormality of the lower limb	4358	MPV17	OMIM:618400
HP:0002814	Abnormality of the lower limb	57449	PLEKHG5	OMIM:615376
HP:0002814	Abnormality of the lower limb	3295	HSD17B4	OMIM:261515
HP:0002814	Abnormality of the lower limb	64423	INF2	OMIM:614455
HP:0002814	Abnormality of the lower limb	168667	BMPER	OMIM:608022
HP:0002814	Abnormality of the lower limb	8729	GBF1	OMIM:606483
HP:0002814	Abnormality of the lower limb	114548	NLRP3	ORPHA:575
HP:0002814	Abnormality of the lower limb	23126	POGZ	OMIM:616364
HP:0002814	Abnormality of the lower limb	84295	PHF6	ORPHA:127
HP:0002814	Abnormality of the lower limb	83550	GPR101	ORPHA:963
HP:0002814	Abnormality of the lower limb	9049	AIP	ORPHA:963
HP:0002814	Abnormality of the lower limb	23512	SUZ12	ORPHA:3447
HP:0002814	Abnormality of the lower limb	341640	FREM2	ORPHA:2052
HP:0002814	Abnormality of the lower limb	80144	FRAS1	ORPHA:2052
HP:0002814	Abnormality of the lower limb	23426	GRIP1	ORPHA:2052
HP:0002814	Abnormality of the lower limb	6309	SC5D	ORPHA:46059
HP:0002814	Abnormality of the lower limb	6309	SC5D	OMIM:607330
HP:0002814	Abnormality of the lower limb	145173	B3GLCT	ORPHA:709
HP:0002814	Abnormality of the lower limb	117581	TWIST2	OMIM:200110
HP:0002814	Abnormality of the lower limb	117581	TWIST2	ORPHA:920
HP:0002814	Abnormality of the lower limb	3020	H3-3A	OMIM:619720
HP:0002814	Abnormality of the lower limb	9790	BMS1	ORPHA:1114
HP:0002814	Abnormality of the lower limb	3691	ITGB4	ORPHA:1114
HP:0002814	Abnormality of the lower limb	54101	RIPK4	ORPHA:1234
HP:0002814	Abnormality of the lower limb	2314	FLII	ORPHA:819
HP:0002814	Abnormality of the lower limb	23096	IQSEC2	ORPHA:819
HP:0002814	Abnormality of the lower limb	23096	IQSEC2	ORPHA:217377
HP:0002814	Abnormality of the lower limb	7480	WNT10B	OMIM:225300
HP:0002814	Abnormality of the lower limb	7021	TFAP2B	ORPHA:46627
HP:0002814	Abnormality of the lower limb	652	BMP4	OMIM:607932
HP:0002814	Abnormality of the lower limb	25942	SIN3A	OMIM:613406
HP:0002814	Abnormality of the lower limb	26227	PHGDH	OMIM:256520
HP:0002814	Abnormality of the lower limb	55112	DYNC2I1	ORPHA:474
HP:0002814	Abnormality of the lower limb	57560	IFT80	ORPHA:474
HP:0002814	Abnormality of the lower limb	51626	DYNC2LI1	ORPHA:474
HP:0002814	Abnormality of the lower limb	79659	DYNC2H1	ORPHA:474
HP:0002814	Abnormality of the lower limb	57728	WDR19	ORPHA:474
HP:0002814	Abnormality of the lower limb	89891	DYNC2I2	ORPHA:474
HP:0002814	Abnormality of the lower limb	79809	TTC21B	ORPHA:474
HP:0002814	Abnormality of the lower limb	3981	LIG4	ORPHA:235
HP:0002814	Abnormality of the lower limb	84265	POLR3GL	OMIM:619234
HP:0002814	Abnormality of the lower limb	51633	OTUD6B	ORPHA:505237
HP:0002814	Abnormality of the lower limb	374879	ZNF699	OMIM:619488
HP:0002814	Abnormality of the lower limb	28957	MRPS28	OMIM:618958
HP:0002814	Abnormality of the lower limb	8450	CUL4B	ORPHA:85293
HP:0002814	Abnormality of the lower limb	2255	FGF10	ORPHA:2363
HP:0002814	Abnormality of the lower limb	79971	WLS	OMIM:619648
HP:0002814	Abnormality of the lower limb	407975	MIR17HG	ORPHA:391646
HP:0002814	Abnormality of the lower limb	3664	IRF6	ORPHA:1300
HP:0002814	Abnormality of the lower limb	50945	TBX22	ORPHA:921
HP:0002814	Abnormality of the lower limb	6445	SGCG	ORPHA:353
HP:0002814	Abnormality of the lower limb	23516	SLC39A14	OMIM:617013
HP:0002814	Abnormality of the lower limb	79912	PYROXD1	OMIM:617258
HP:0002814	Abnormality of the lower limb	291	SLC25A4	OMIM:615418
HP:0002814	Abnormality of the lower limb	57679	ALS2	OMIM:607225
HP:0002814	Abnormality of the lower limb	4556	MT-TE	ORPHA:2596
HP:0002814	Abnormality of the lower limb	113179	ADAT3	ORPHA:363528
HP:0002814	Abnormality of the lower limb	26090	ABHD12	OMIM:612674
HP:0002814	Abnormality of the lower limb	729920	CRPPA	ORPHA:370980
HP:0002814	Abnormality of the lower limb	2799	GNS	OMIM:252940
HP:0002814	Abnormality of the lower limb	4976	OPA1	OMIM:210000
HP:0002814	Abnormality of the lower limb	79188	TMEM43	ORPHA:98853
HP:0002814	Abnormality of the lower limb	23345	SYNE1	ORPHA:98853
HP:0002814	Abnormality of the lower limb	23224	SYNE2	ORPHA:98853
HP:0002814	Abnormality of the lower limb	55210	ATAD3A	OMIM:617183
HP:0002814	Abnormality of the lower limb	7920	ABHD16A	OMIM:619735
HP:0002814	Abnormality of the lower limb	23111	SPART	OMIM:275900
HP:0002814	Abnormality of the lower limb	26235	FBXL4	OMIM:615471
HP:0002814	Abnormality of the lower limb	124997	WDR81	OMIM:610185
HP:0002814	Abnormality of the lower limb	7681	MKRN3	OMIM:176270
HP:0002814	Abnormality of the lower limb	3653	IPW	OMIM:176270
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	OMIM:176270
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:177904
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:177901
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:398069
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:177910
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	OMIM:615547
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:98754
HP:0002814	Abnormality of the lower limb	791114	PWRN1	OMIM:176270
HP:0002814	Abnormality of the lower limb	100033413	SNORD116-1	OMIM:176270
HP:0002814	Abnormality of the lower limb	8924	HERC2	OMIM:176270
HP:0002814	Abnormality of the lower limb	145624	PWAR1	OMIM:176270
HP:0002814	Abnormality of the lower limb	23742	NPAP1	OMIM:176270
HP:0002814	Abnormality of the lower limb	338433	SNORD115-1	OMIM:176270
HP:0002814	Abnormality of the lower limb	6792	CDKL5	ORPHA:3095
HP:0002814	Abnormality of the lower limb	6792	CDKL5	OMIM:300672
HP:0002814	Abnormality of the lower limb	22854	NTNG1	ORPHA:3095
HP:0002814	Abnormality of the lower limb	9568	GABBR2	ORPHA:3095
HP:0002814	Abnormality of the lower limb	9568	GABBR2	OMIM:617903
HP:0002814	Abnormality of the lower limb	1062	CENPE	OMIM:616051
HP:0002814	Abnormality of the lower limb	6651	SON	OMIM:617140
HP:0002814	Abnormality of the lower limb	23030	KDM4B	OMIM:619320
HP:0002814	Abnormality of the lower limb	6905	TBCE	ORPHA:2323
HP:0002814	Abnormality of the lower limb	6905	TBCE	OMIM:241410
HP:0002814	Abnormality of the lower limb	6905	TBCE	OMIM:244460
HP:0002814	Abnormality of the lower limb	6905	TBCE	ORPHA:93324
HP:0002814	Abnormality of the lower limb	6492	SIM1	ORPHA:398079
HP:0002814	Abnormality of the lower limb	55777	MBD5	OMIM:156200
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177904
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177901
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177910
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177907
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:98754
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:177904
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:177901
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:177910
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:98754
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:177904
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:177901
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:98754
HP:0002814	Abnormality of the lower limb	2590	GALNT2	OMIM:618885
HP:0002814	Abnormality of the lower limb	818	CAMK2G	OMIM:618522
HP:0002814	Abnormality of the lower limb	80204	FBXO11	OMIM:618089
HP:0002814	Abnormality of the lower limb	3064	HTT	OMIM:617435
HP:0002814	Abnormality of the lower limb	10381	TUBB3	ORPHA:300570
HP:0002814	Abnormality of the lower limb	84100	ARL6	OMIM:209900
HP:0002814	Abnormality of the lower limb	79140	CCDC28B	OMIM:209900
HP:0002814	Abnormality of the lower limb	582	BBS1	OMIM:209900
HP:0002814	Abnormality of the lower limb	6045	RNF2	OMIM:619460
HP:0002814	Abnormality of the lower limb	10943	MSL3	OMIM:301032
HP:0002814	Abnormality of the lower limb	7874	USP7	ORPHA:500055
HP:0002814	Abnormality of the lower limb	8493	PPM1D	OMIM:617450
HP:0002814	Abnormality of the lower limb	8364	H4C3	OMIM:619758
HP:0002814	Abnormality of the lower limb	55343	SLC35C1	OMIM:266265
HP:0002814	Abnormality of the lower limb	7750	ZMYM2	OMIM:619522
HP:0002814	Abnormality of the lower limb	3800	KIF5C	OMIM:615282
HP:0002814	Abnormality of the lower limb	5159	PDGFRB	OMIM:601812
HP:0002814	Abnormality of the lower limb	54928	BPNT2	OMIM:614078
HP:0002814	Abnormality of the lower limb	81887	LAS1L	ORPHA:3459
HP:0002814	Abnormality of the lower limb	81887	LAS1L	OMIM:309585
HP:0002814	Abnormality of the lower limb	23162	MAPK8IP3	OMIM:618443
HP:0002814	Abnormality of the lower limb	2332	FMR1	ORPHA:261483
HP:0002814	Abnormality of the lower limb	147372	CCBE1	OMIM:235510
HP:0002814	Abnormality of the lower limb	9130	FAM50A	OMIM:300261
HP:0002814	Abnormality of the lower limb	25886	POC1A	OMIM:614813
HP:0002814	Abnormality of the lower limb	3480	IGF1R	OMIM:270450
HP:0002814	Abnormality of the lower limb	10075	HUWE1	OMIM:309590
HP:0002814	Abnormality of the lower limb	2036	EPB41L1	OMIM:614257
HP:0002814	Abnormality of the lower limb	1718	DHCR24	OMIM:602398
HP:0002814	Abnormality of the lower limb	84879	MFSD2A	OMIM:616486
HP:0002814	Abnormality of the lower limb	348180	CTU2	OMIM:618142
HP:0002814	Abnormality of the lower limb	340419	RSPO2	OMIM:618022
HP:0002814	Abnormality of the lower limb	23040	MYT1L	OMIM:616521
HP:0002814	Abnormality of the lower limb	10730	YME1L1	OMIM:617302
HP:0002814	Abnormality of the lower limb	342035	GLDN	OMIM:617194
HP:0002814	Abnormality of the lower limb	29940	DSE	OMIM:615539
HP:0002814	Abnormality of the lower limb	81839	VANGL1	OMIM:600145
HP:0002814	Abnormality of the lower limb	1496	CTNNA2	OMIM:618174
HP:0002814	Abnormality of the lower limb	58497	PRUNE1	ORPHA:544469
HP:0002814	Abnormality of the lower limb	9230	RAB11B	OMIM:617807
HP:0002814	Abnormality of the lower limb	246329	STAC3	OMIM:255995
HP:0002814	Abnormality of the lower limb	8241	RBM10	OMIM:311900
HP:0002814	Abnormality of the lower limb	81794	ADAMTS10	OMIM:277600
HP:0002814	Abnormality of the lower limb	2324	FLT4	ORPHA:79452
HP:0002814	Abnormality of the lower limb	57165	GJC2	ORPHA:79452
HP:0002814	Abnormality of the lower limb	132	ADK	OMIM:614300
HP:0002814	Abnormality of the lower limb	10084	PQBP1	OMIM:309500
HP:0002814	Abnormality of the lower limb	6938	TCF12	OMIM:615314
HP:0002814	Abnormality of the lower limb	57122	NUP107	OMIM:618348
HP:0002814	Abnormality of the lower limb	2077	ERF	OMIM:617180
HP:0002814	Abnormality of the lower limb	56098	PCDHGC4	OMIM:619880
HP:0002814	Abnormality of the lower limb	83737	ITCH	OMIM:613385
HP:0002814	Abnormality of the lower limb	55780	ERMARD	ORPHA:75857
HP:0002814	Abnormality of the lower limb	79600	TCTN1	ORPHA:475
HP:0002814	Abnormality of the lower limb	54806	AHI1	ORPHA:475
HP:0002814	Abnormality of the lower limb	54806	AHI1	ORPHA:220493
HP:0002814	Abnormality of the lower limb	200894	ARL13B	ORPHA:475
HP:0002814	Abnormality of the lower limb	9731	CEP104	ORPHA:475
HP:0002814	Abnormality of the lower limb	23247	KATNIP	ORPHA:475
HP:0002814	Abnormality of the lower limb	219854	TMEM218	ORPHA:475
HP:0002814	Abnormality of the lower limb	54903	MKS1	ORPHA:475
HP:0002814	Abnormality of the lower limb	54903	MKS1	OMIM:249000
HP:0002814	Abnormality of the lower limb	54903	MKS1	ORPHA:220493
HP:0002814	Abnormality of the lower limb	95681	CEP41	ORPHA:475
HP:0002814	Abnormality of the lower limb	95681	CEP41	ORPHA:220493
HP:0002814	Abnormality of the lower limb	56623	INPP5E	ORPHA:475
HP:0002814	Abnormality of the lower limb	56623	INPP5E	ORPHA:220493
HP:0002814	Abnormality of the lower limb	80776	B9D2	ORPHA:475
HP:0002814	Abnormality of the lower limb	10464	PIBF1	ORPHA:475
HP:0002814	Abnormality of the lower limb	80210	ARMC9	ORPHA:475
HP:0002814	Abnormality of the lower limb	23116	TOGARAM1	ORPHA:475
HP:0002814	Abnormality of the lower limb	25776	CBY1	ORPHA:475
HP:0002814	Abnormality of the lower limb	403	ARL3	ORPHA:475
HP:0002814	Abnormality of the lower limb	65062	TMEM237	ORPHA:475
HP:0002814	Abnormality of the lower limb	65062	TMEM237	ORPHA:2318
HP:0002814	Abnormality of the lower limb	51524	TMEM138	ORPHA:2318
HP:0002814	Abnormality of the lower limb	23090	ZNF423	ORPHA:2318
HP:0002814	Abnormality of the lower limb	80184	CEP290	ORPHA:2318
HP:0002814	Abnormality of the lower limb	10210	TOPORS	ORPHA:2754
HP:0002814	Abnormality of the lower limb	317662	FAM149B1	ORPHA:2754
HP:0002814	Abnormality of the lower limb	26154	ABCA12	ORPHA:457
HP:0002814	Abnormality of the lower limb	79770	TXNDC15	OMIM:619879
HP:0002814	Abnormality of the lower limb	79770	TXNDC15	ORPHA:564
HP:0002814	Abnormality of the lower limb	80173	IFT74	OMIM:617119
HP:0002814	Abnormality of the lower limb	84314	TMEM107	ORPHA:564
HP:0002814	Abnormality of the lower limb	84314	TMEM107	OMIM:617563
HP:0002814	Abnormality of the lower limb	57096	RPGRIP1	ORPHA:564
HP:0002814	Abnormality of the lower limb	27031	NPHP3	OMIM:267010
HP:0002814	Abnormality of the lower limb	285600	KIAA0825	OMIM:618498
HP:0002814	Abnormality of the lower limb	583	BBS2	OMIM:615981
HP:0002814	Abnormality of the lower limb	137392	CIBAR1	OMIM:618219
HP:0002814	Abnormality of the lower limb	7700	ZNF141	OMIM:615226
HP:0002814	Abnormality of the lower limb	166379	BBS12	OMIM:615989
HP:0002814	Abnormality of the lower limb	27241	BBS9	OMIM:615986
HP:0002814	Abnormality of the lower limb	5896	RAG1	ORPHA:39041
HP:0002814	Abnormality of the lower limb	5897	RAG2	ORPHA:39041
HP:0002814	Abnormality of the lower limb	64421	DCLRE1C	ORPHA:39041
HP:0002814	Abnormality of the lower limb	100	ADA	ORPHA:39041
HP:0002814	Abnormality of the lower limb	3575	IL7R	ORPHA:39041
HP:0002814	Abnormality of the lower limb	3561	IL2RG	ORPHA:39041
HP:0002814	Abnormality of the lower limb	23384	SPECC1L	ORPHA:1519
HP:0002814	Abnormality of the lower limb	55650	PIGV	OMIM:239300
HP:0002814	Abnormality of the lower limb	2690	GHR	ORPHA:633
HP:0002814	Abnormality of the lower limb	65109	UPF3B	OMIM:300676
HP:0002814	Abnormality of the lower limb	440	ASNS	OMIM:615574
HP:0002814	Abnormality of the lower limb	3643	INSR	OMIM:246200
HP:0002814	Abnormality of the lower limb	3643	INSR	ORPHA:508
HP:0002814	Abnormality of the lower limb	10555	AGPAT2	ORPHA:528
HP:0002814	Abnormality of the lower limb	10555	AGPAT2	OMIM:608594
HP:0002814	Abnormality of the lower limb	284119	CAVIN1	ORPHA:528
HP:0002814	Abnormality of the lower limb	2353	FOS	ORPHA:528
HP:0002814	Abnormality of the lower limb	4221	MEN1	ORPHA:99725
HP:0002814	Abnormality of the lower limb	23265	EXOC7	OMIM:619072
HP:0002814	Abnormality of the lower limb	285489	DOK7	OMIM:618389
HP:0002814	Abnormality of the lower limb	6659	SOX4	OMIM:618506
HP:0002814	Abnormality of the lower limb	55627	SMPD4	OMIM:618622
HP:0002814	Abnormality of the lower limb	7486	WRN	ORPHA:902
HP:0002814	Abnormality of the lower limb	4927	NUP88	OMIM:618393
HP:0002814	Abnormality of the lower limb	4094	MAF	ORPHA:1272
HP:0002814	Abnormality of the lower limb	10436	EMG1	ORPHA:1270
HP:0002814	Abnormality of the lower limb	10436	EMG1	OMIM:211180
HP:0002814	Abnormality of the lower limb	5649	RELN	ORPHA:89844
HP:0002814	Abnormality of the lower limb	10300	KATNB1	ORPHA:89844
HP:0002814	Abnormality of the lower limb	9928	KIF14	OMIM:616258
HP:0002814	Abnormality of the lower limb	2068	ERCC2	OMIM:610756
HP:0002814	Abnormality of the lower limb	23511	NUP188	OMIM:618804
HP:0002814	Abnormality of the lower limb	91647	ATPAF2	OMIM:604273
HP:0002814	Abnormality of the lower limb	998	CDC42	ORPHA:487796
HP:0002814	Abnormality of the lower limb	998	CDC42	OMIM:616737
HP:0002814	Abnormality of the lower limb	118987	PDZD8	OMIM:620021
HP:0002814	Abnormality of the lower limb	79228	THOC6	ORPHA:363444
HP:0002814	Abnormality of the lower limb	6647	SOD1	OMIM:618598
HP:0002814	Abnormality of the lower limb	9772	TMEM94	OMIM:618316
HP:0002814	Abnormality of the lower limb	22930	RAB3GAP1	OMIM:600118
HP:0002814	Abnormality of the lower limb	22930	RAB3GAP1	OMIM:619420
HP:0002814	Abnormality of the lower limb	54916	TMEM260	OMIM:617478
HP:0002814	Abnormality of the lower limb	129285	PPP1R21	OMIM:619383
HP:0002814	Abnormality of the lower limb	171023	ASXL1	OMIM:605039
HP:0002814	Abnormality of the lower limb	26100	WIPI2	OMIM:618453
HP:0002814	Abnormality of the lower limb	26173	INTS1	OMIM:618571
HP:0002814	Abnormality of the lower limb	1822	ATN1	OMIM:618494
HP:0002814	Abnormality of the lower limb	55656	INTS8	OMIM:618572
HP:0002814	Abnormality of the lower limb	84148	KAT8	OMIM:618974
HP:0002814	Abnormality of the lower limb	4654	MYOD1	OMIM:618975
HP:0002814	Abnormality of the lower limb	2770	GNAI1	OMIM:619854
HP:0002814	Abnormality of the lower limb	79759	ZNF668	OMIM:620194
HP:0002814	Abnormality of the lower limb	5573	PRKAR1A	OMIM:101800
HP:0002814	Abnormality of the lower limb	56975	FAM20C	OMIM:259775
HP:0002814	Abnormality of the lower limb	92949	ADAMTSL1	ORPHA:521445
HP:0002814	Abnormality of the lower limb	1349	COX7B	OMIM:300887
HP:0002814	Abnormality of the lower limb	83479	DDX59	OMIM:174300
HP:0002814	Abnormality of the lower limb	28960	DCPS	OMIM:616459
HP:0002814	Abnormality of the lower limb	8289	ARID1A	OMIM:614607
HP:0002814	Abnormality of the lower limb	6942	TCF20	OMIM:618430
HP:0002814	Abnormality of the lower limb	6605	SMARCE1	OMIM:616938
HP:0002814	Abnormality of the lower limb	9320	TRIP12	OMIM:617752
HP:0002814	Abnormality of the lower limb	6603	SMARCD2	OMIM:617475
HP:0002814	Abnormality of the lower limb	79902	NUP85	ORPHA:808
HP:0002814	Abnormality of the lower limb	84126	ATRIP	ORPHA:808
HP:0002814	Abnormality of the lower limb	55012	PPP2R3C	OMIM:618419
HP:0002814	Abnormality of the lower limb	5281	PIGF	OMIM:619356
HP:0002814	Abnormality of the lower limb	490	ATP2B1	OMIM:619910
HP:0002814	Abnormality of the lower limb	5283	PIGH	OMIM:618010
HP:0002814	Abnormality of the lower limb	6049	RNF6	ORPHA:99977
HP:0002814	Abnormality of the lower limb	51741	WWOX	ORPHA:99977
HP:0002814	Abnormality of the lower limb	9940	DLEC1	ORPHA:99977
HP:0002814	Abnormality of the lower limb	23498	HAAO	OMIM:617660
HP:0002814	Abnormality of the lower limb	55640	FLVCR2	OMIM:225790
HP:0002814	Abnormality of the lower limb	8942	KYNU	OMIM:617661
HP:0002814	Abnormality of the lower limb	9993	DGCR2	OMIM:192430
HP:0002814	Abnormality of the lower limb	8220	ESS2	OMIM:192430
HP:0002814	Abnormality of the lower limb	8214	DGCR6	OMIM:192430
HP:0002814	Abnormality of the lower limb	54487	DGCR8	OMIM:192430
HP:0002814	Abnormality of the lower limb	1760	DMPK	ORPHA:589821
HP:0002814	Abnormality of the lower limb	774	CACNA1B	OMIM:618497
HP:0002814	Abnormality of the lower limb	63894	VIPAS39	OMIM:613404
HP:0002814	Abnormality of the lower limb	8398	PLA2G6	OMIM:610217
HP:0002814	Abnormality of the lower limb	51	ACOX1	OMIM:618960
HP:0002814	Abnormality of the lower limb	246243	RNASEH1	ORPHA:329336
HP:0002814	Abnormality of the lower limb	1890	TYMP	OMIM:603041
HP:0002814	Abnormality of the lower limb	6548	SLC9A1	OMIM:616291
HP:0002814	Abnormality of the lower limb	5611	DNAJC3	OMIM:616192
HP:0002814	Abnormality of the lower limb	5611	DNAJC3	ORPHA:445062
HP:0002814	Abnormality of the lower limb	374393	FAM111B	OMIM:615704
HP:0002814	Abnormality of the lower limb	4099	MAG	OMIM:616680
HP:0002814	Abnormality of the lower limb	22868	FASTKD2	OMIM:618855
HP:0002814	Abnormality of the lower limb	9711	RUBCN	OMIM:615705
HP:0002814	Abnormality of the lower limb	6786	STIM1	OMIM:160565
HP:0002814	Abnormality of the lower limb	347734	SLC35B2	OMIM:620269
HP:0002814	Abnormality of the lower limb	546	ATRX	OMIM:301040
HP:0002814	Abnormality of the lower limb	55593	OTUD5	OMIM:301056
HP:0002814	Abnormality of the lower limb	613	BCR	ORPHA:261330
HP:0002814	Abnormality of the lower limb	1399	CRKL	ORPHA:261330
HP:0002814	Abnormality of the lower limb	6197	RPS6KA3	OMIM:303600
HP:0002814	Abnormality of the lower limb	3190	HNRNPK	OMIM:616580
HP:0002814	Abnormality of the lower limb	84068	SLC10A7	OMIM:618363
HP:0002814	Abnormality of the lower limb	8726	EED	OMIM:617561
HP:0002814	Abnormality of the lower limb	4247	MGAT2	OMIM:212066
HP:0002814	Abnormality of the lower limb	2517	FUCA1	OMIM:230000
HP:0002814	Abnormality of the lower limb	2588	GALNS	OMIM:253000
HP:0002814	Abnormality of the lower limb	2961	GTF2E2	OMIM:616943
HP:0002814	Abnormality of the lower limb	865	CBFB	OMIM:620099
HP:0002814	Abnormality of the lower limb	65992	DDRGK1	OMIM:602557
HP:0002814	Abnormality of the lower limb	85301	COL27A1	OMIM:615155
HP:0002814	Abnormality of the lower limb	579	NKX3-2	OMIM:613330
HP:0002814	Abnormality of the lower limb	6023	RMRP	OMIM:250250
HP:0002814	Abnormality of the lower limb	755	CFAP410	OMIM:602271
HP:0002814	Abnormality of the lower limb	5130	PCYT1A	ORPHA:85167
HP:0002814	Abnormality of the lower limb	5130	PCYT1A	OMIM:608940
HP:0002814	Abnormality of the lower limb	4784	NFIX	OMIM:602535
HP:0002814	Abnormality of the lower limb	11014	KDELR2	OMIM:619131
HP:0002814	Abnormality of the lower limb	6137	RPL13	OMIM:618728
HP:0002814	Abnormality of the lower limb	860	RUNX2	OMIM:119600
HP:0002814	Abnormality of the lower limb	860	RUNX2	ORPHA:1452
HP:0002814	Abnormality of the lower limb	1954	MEGF8	OMIM:614976
HP:0002814	Abnormality of the lower limb	5830	PEX5	OMIM:616716
HP:0002814	Abnormality of the lower limb	11146	GLMN	ORPHA:83454
HP:0002814	Abnormality of the lower limb	4318	MMP9	ORPHA:1040
HP:0002814	Abnormality of the lower limb	4322	MMP13	ORPHA:1040
HP:0002814	Abnormality of the lower limb	10262	SF3B4	ORPHA:245
HP:0002814	Abnormality of the lower limb	1294	COL7A1	ORPHA:158673
HP:0002814	Abnormality of the lower limb	8074	FGF23	OMIM:193100
HP:0002814	Abnormality of the lower limb	4851	NOTCH1	ORPHA:974
HP:0002814	Abnormality of the lower limb	57514	ARHGAP31	ORPHA:974
HP:0002814	Abnormality of the lower limb	57572	DOCK6	ORPHA:974
HP:0002814	Abnormality of the lower limb	285203	EOGT	ORPHA:974
HP:0002814	Abnormality of the lower limb	54567	DLL4	ORPHA:974
HP:0002814	Abnormality of the lower limb	1756	DMD	ORPHA:98895
HP:0002814	Abnormality of the lower limb	2767	GNA11	ORPHA:1556
HP:0002814	Abnormality of the lower limb	151188	ARL6IP6	ORPHA:1556
HP:0002814	Abnormality of the lower limb	65125	WNK1	ORPHA:970
HP:0002814	Abnormality of the lower limb	54463	RETREG1	ORPHA:970
HP:0002814	Abnormality of the lower limb	547	KIF1A	ORPHA:970
HP:0002814	Abnormality of the lower limb	427	ASAH1	ORPHA:333
HP:0002814	Abnormality of the lower limb	4210	MEFV	ORPHA:329967
HP:0002814	Abnormality of the lower limb	7132	TNFRSF1A	ORPHA:329967
HP:0002814	Abnormality of the lower limb	8292	COLQ	ORPHA:98915
HP:0002814	Abnormality of the lower limb	3913	LAMB2	ORPHA:98915
HP:0002814	Abnormality of the lower limb	11285	B4GALT7	OMIM:130070
HP:0002814	Abnormality of the lower limb	4123	MAN2C1	OMIM:619775
HP:0002814	Abnormality of the lower limb	2892	GRIA3	ORPHA:364028
HP:0002814	Abnormality of the lower limb	4893	NRAS	ORPHA:2612
HP:0002814	Abnormality of the lower limb	9469	CHST3	OMIM:143095
HP:0002814	Abnormality of the lower limb	57479	PRR12	OMIM:619539
HP:0002814	Abnormality of the lower limb	2006	ELN	ORPHA:90348
HP:0002814	Abnormality of the lower limb	285590	SH3PXD2B	ORPHA:137834
HP:0002814	Abnormality of the lower limb	1073	CFL2	OMIM:610687
HP:0002814	Abnormality of the lower limb	8936	WASF1	OMIM:618707
HP:0002814	Abnormality of the lower limb	9150	CTDP1	OMIM:604168
HP:0002814	Abnormality of the lower limb	6536	SLC6A9	OMIM:617301
HP:0002814	Abnormality of the lower limb	2245	FGD1	ORPHA:915
HP:0002814	Abnormality of the lower limb	57192	MCOLN1	ORPHA:578
HP:0002814	Abnormality of the lower limb	4054	LTBP3	ORPHA:969
HP:0002814	Abnormality of the lower limb	6916	TBXAS1	ORPHA:1802
HP:0002814	Abnormality of the lower limb	7040	TGFB1	ORPHA:1328
HP:0002814	Abnormality of the lower limb	2717	GLA	ORPHA:324
HP:0002814	Abnormality of the lower limb	2778	GNAS	ORPHA:562
HP:0002814	Abnormality of the lower limb	55906	ZC4H2	OMIM:301041
HP:0002814	Abnormality of the lower limb	55906	ZC4H2	OMIM:314580
HP:0002814	Abnormality of the lower limb	55703	POLR3B	OMIM:614381
HP:0002814	Abnormality of the lower limb	56896	DPYSL5	OMIM:619435
HP:0002814	Abnormality of the lower limb	10054	UBA2	OMIM:619959
HP:0002814	Abnormality of the lower limb	79796	ALG9	OMIM:608776
HP:0002814	Abnormality of the lower limb	6662	SOX9	ORPHA:140
HP:0002814	Abnormality of the lower limb	6662	SOX9	OMIM:114290
HP:0002814	Abnormality of the lower limb	10324	KLHL41	ORPHA:171436
HP:0002814	Abnormality of the lower limb	56203	LMOD3	ORPHA:171436
HP:0002814	Abnormality of the lower limb	16	AARS1	OMIM:616339
HP:0002814	Abnormality of the lower limb	51010	EXOSC3	OMIM:614678
HP:0002814	Abnormality of the lower limb	9915	ARNT2	OMIM:615926
HP:0002814	Abnormality of the lower limb	10225	CD96	OMIM:211750
HP:0002814	Abnormality of the lower limb	4626	MYH8	ORPHA:3377
HP:0002814	Abnormality of the lower limb	4626	MYH8	OMIM:158300
HP:0002814	Abnormality of the lower limb	4952	OCRL	ORPHA:534
HP:0002814	Abnormality of the lower limb	4952	OCRL	OMIM:309000
HP:0002814	Abnormality of the lower limb	2067	ERCC1	OMIM:610758
HP:0002814	Abnormality of the lower limb	4038	LRP4	ORPHA:3258
HP:0002814	Abnormality of the lower limb	324	APC	ORPHA:3258
HP:0002814	Abnormality of the lower limb	23499	MACF1	ORPHA:572013
HP:0002814	Abnormality of the lower limb	387119	CEP85L	ORPHA:572013
HP:0002814	Abnormality of the lower limb	29925	GMPPB	ORPHA:370968
HP:0002814	Abnormality of the lower limb	29954	POMT2	ORPHA:370968
HP:0002814	Abnormality of the lower limb	29954	POMT2	OMIM:613156
HP:0002814	Abnormality of the lower limb	9215	LARGE1	ORPHA:370968
HP:0002814	Abnormality of the lower limb	10585	POMT1	ORPHA:370968
HP:0002814	Abnormality of the lower limb	4621	MYH3	OMIM:193700
HP:0002814	Abnormality of the lower limb	1351	COX8A	OMIM:619059
HP:0002814	Abnormality of the lower limb	2530	FUT8	OMIM:618005
HP:0002814	Abnormality of the lower limb	4052	LTBP1	OMIM:619451
HP:0002814	Abnormality of the lower limb	4052	LTBP1	ORPHA:90349
HP:0002814	Abnormality of the lower limb	3899	AFF3	OMIM:619297
HP:0002814	Abnormality of the lower limb	3572	IL6ST	OMIM:618523
HP:0002814	Abnormality of the lower limb	6678	SPARC	OMIM:616507
HP:0002814	Abnormality of the lower limb	25778	DSTYK	ORPHA:101003
HP:0002814	Abnormality of the lower limb	1289	COL5A1	ORPHA:287
HP:0002814	Abnormality of the lower limb	57531	HACE1	ORPHA:464282
HP:0002814	Abnormality of the lower limb	57531	HACE1	OMIM:616756
HP:0002814	Abnormality of the lower limb	2743	GLRB	ORPHA:3197
HP:0002814	Abnormality of the lower limb	2741	GLRA1	ORPHA:3197
HP:0002814	Abnormality of the lower limb	2741	GLRA1	OMIM:149400
HP:0002814	Abnormality of the lower limb	10243	GPHN	ORPHA:3197
HP:0002814	Abnormality of the lower limb	10243	GPHN	OMIM:149400
HP:0002814	Abnormality of the lower limb	84896	ATAD1	ORPHA:3197
HP:0002814	Abnormality of the lower limb	9152	SLC6A5	ORPHA:3197
HP:0002814	Abnormality of the lower limb	22872	SEC31A	OMIM:618651
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	2253	FGF8	ORPHA:93926
HP:0002814	Abnormality of the lower limb	2253	FGF8	ORPHA:93924
HP:0002814	Abnormality of the lower limb	2253	FGF8	ORPHA:93925
HP:0002814	Abnormality of the lower limb	2253	FGF8	ORPHA:220386
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93926
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93924
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93925
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:220386
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93926
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93924
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93925
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:220386
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93926
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93924
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93925
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:220386
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93926
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93924
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93925
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:220386
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93926
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93924
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93925
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:220386
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93926
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93924
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93925
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:220386
HP:0002814	Abnormality of the lower limb	23007	PLCH1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	10735	STAG2	ORPHA:93925
HP:0002814	Abnormality of the lower limb	10735	STAG2	ORPHA:220386
HP:0002814	Abnormality of the lower limb	53834	FGFRL1	OMIM:194190
HP:0002814	Abnormality of the lower limb	1487	CTBP1	OMIM:194190
HP:0002814	Abnormality of the lower limb	3954	LETM1	OMIM:194190
HP:0002814	Abnormality of the lower limb	7468	NSD2	OMIM:194190
HP:0002814	Abnormality of the lower limb	10815	CPLX1	OMIM:194190
HP:0002814	Abnormality of the lower limb	55644	OSGEP	OMIM:617729
HP:0002814	Abnormality of the lower limb	23476	BRD4	ORPHA:199
HP:0002814	Abnormality of the lower limb	9126	SMC3	ORPHA:199
HP:0002814	Abnormality of the lower limb	55869	HDAC8	ORPHA:199
HP:0002814	Abnormality of the lower limb	57003	CCDC47	OMIM:618268
HP:0002814	Abnormality of the lower limb	10526	IPO8	OMIM:619472
HP:0002814	Abnormality of the lower limb	1861	TOR1A	OMIM:618947
HP:0002814	Abnormality of the lower limb	23233	EXOC6B	ORPHA:93359
HP:0002814	Abnormality of the lower limb	23233	EXOC6B	OMIM:618395
HP:0002814	Abnormality of the lower limb	3098	HK1	OMIM:618547
HP:0002814	Abnormality of the lower limb	6608	SMO	OMIM:241800
HP:0002814	Abnormality of the lower limb	145258	GSC	OMIM:602471
HP:0002814	Abnormality of the lower limb	10269	ZMPSTE24	ORPHA:740
HP:0002814	Abnormality of the lower limb	78989	COLEC11	OMIM:265050
HP:0002814	Abnormality of the lower limb	78989	COLEC11	ORPHA:293843
HP:0002814	Abnormality of the lower limb	3251	HPRT1	OMIM:300322
HP:0002814	Abnormality of the lower limb	51360	MBTPS2	OMIM:308205
HP:0002814	Abnormality of the lower limb	7140	TNNT3	OMIM:618435
HP:0002814	Abnormality of the lower limb	113246	C12orf57	OMIM:218340
HP:0002814	Abnormality of the lower limb	7030	TFE3	OMIM:301066
HP:0002814	Abnormality of the lower limb	30008	EFEMP2	ORPHA:90349
HP:0002814	Abnormality of the lower limb	284058	KANSL1	OMIM:610443
HP:0002814	Abnormality of the lower limb	92344	GORAB	ORPHA:2078
HP:0002814	Abnormality of the lower limb	10584	COLEC10	ORPHA:293843
HP:0002814	Abnormality of the lower limb	5648	MASP1	ORPHA:293843
HP:0002814	Abnormality of the lower limb	26229	B3GAT3	OMIM:245600
HP:0002814	Abnormality of the lower limb	81603	TRIM8	OMIM:619428
HP:0002814	Abnormality of the lower limb	1497	CTNS	OMIM:219800
HP:0002814	Abnormality of the lower limb	875	CBS	ORPHA:394
HP:0002814	Abnormality of the lower limb	7421	VDR	ORPHA:93160
HP:0002814	Abnormality of the lower limb	7360	UGP2	OMIM:618744
HP:0002814	Abnormality of the lower limb	10992	SF3B2	OMIM:164210
HP:0002814	Abnormality of the lower limb	3021	H3-3B	OMIM:619721
HP:0002814	Abnormality of the lower limb	23322	RPGRIP1L	OMIM:611560
HP:0002814	Abnormality of the lower limb	4853	NOTCH2	OMIM:102500
HP:0002814	Abnormality of the lower limb	83480	PUS3	ORPHA:488627
HP:0002814	Abnormality of the lower limb	157680	VPS13B	OMIM:216550
HP:0002814	Abnormality of the lower limb	157680	VPS13B	ORPHA:193
HP:0002814	Abnormality of the lower limb	5566	PRKACA	ORPHA:289
HP:0002814	Abnormality of the lower limb	5566	PRKACA	OMIM:619142
HP:0002814	Abnormality of the lower limb	5567	PRKACB	ORPHA:289
HP:0002814	Abnormality of the lower limb	5567	PRKACB	OMIM:619143
HP:0002814	Abnormality of the lower limb	2735	GLI1	ORPHA:289
HP:0002814	Abnormality of the lower limb	2735	GLI1	OMIM:618123
HP:0002814	Abnormality of the lower limb	2121	EVC	ORPHA:289
HP:0002814	Abnormality of the lower limb	2121	EVC	OMIM:225500
HP:0002814	Abnormality of the lower limb	132884	EVC2	ORPHA:289
HP:0002814	Abnormality of the lower limb	132884	EVC2	OMIM:225500
HP:0002814	Abnormality of the lower limb	1588	CYP19A1	ORPHA:91
HP:0002814	Abnormality of the lower limb	3043	HBB	ORPHA:231214
HP:0002814	Abnormality of the lower limb	3043	HBB	ORPHA:231226
HP:0002814	Abnormality of the lower limb	6804	STX1A	ORPHA:904
HP:0002814	Abnormality of the lower limb	7461	CLIP2	ORPHA:904
HP:0002814	Abnormality of the lower limb	84277	DNAJC30	ORPHA:904
HP:0002814	Abnormality of the lower limb	8468	FKBP6	ORPHA:904
HP:0002814	Abnormality of the lower limb	5982	RFC2	ORPHA:904
HP:0002814	Abnormality of the lower limb	2969	GTF2I	ORPHA:904
HP:0002814	Abnormality of the lower limb	3984	LIMK1	ORPHA:904
HP:0002814	Abnormality of the lower limb	9569	GTF2IRD1	ORPHA:904
HP:0002814	Abnormality of the lower limb	155382	VPS37D	ORPHA:904
HP:0002814	Abnormality of the lower limb	155368	METTL27	ORPHA:904
HP:0002814	Abnormality of the lower limb	114049	BUD23	ORPHA:904
HP:0002814	Abnormality of the lower limb	7458	EIF4H	ORPHA:904
HP:0002814	Abnormality of the lower limb	84163	GTF2IRD2	ORPHA:904
HP:0002814	Abnormality of the lower limb	9275	BCL7B	ORPHA:904
HP:0002814	Abnormality of the lower limb	26608	TBL2	ORPHA:904
HP:0002814	Abnormality of the lower limb	653361	NCF1	ORPHA:904
HP:0002814	Abnormality of the lower limb	135886	TMEM270	ORPHA:904
HP:0002814	Abnormality of the lower limb	51085	MLXIPL	ORPHA:904
HP:0002814	Abnormality of the lower limb	9031	BAZ1B	ORPHA:904
HP:0002814	Abnormality of the lower limb	5593	PRKG2	OMIM:619636
HP:0002814	Abnormality of the lower limb	55027	HEATR3	OMIM:620072
HP:0002814	Abnormality of the lower limb	9394	HS6ST1	OMIM:614880
HP:0002814	Abnormality of the lower limb	1186	CLCN7	ORPHA:53
HP:0002814	Abnormality of the lower limb	84695	LOXL3	ORPHA:250984
HP:0002814	Abnormality of the lower limb	55081	IFT57	OMIM:617927
HP:0002814	Abnormality of the lower limb	8600	TNFSF11	OMIM:259710
HP:0002814	Abnormality of the lower limb	10466	COG5	ORPHA:263487
HP:0002814	Abnormality of the lower limb	411	ARSB	OMIM:253200
HP:0002814	Abnormality of the lower limb	8882	ZPR1	OMIM:619321
HP:0002814	Abnormality of the lower limb	137682	NDUFAF6	OMIM:618913
HP:0002814	Abnormality of the lower limb	5604	MAP2K1	ORPHA:1340
HP:0002814	Abnormality of the lower limb	5605	MAP2K2	ORPHA:1340
HP:0002814	Abnormality of the lower limb	54681	P4HTM	OMIM:618493
HP:0002814	Abnormality of the lower limb	6424	SFRP4	OMIM:265900
HP:0002814	Abnormality of the lower limb	6711	SPTBN1	OMIM:619475
HP:0002814	Abnormality of the lower limb	80152	CENPT	OMIM:618702
HP:0002814	Abnormality of the lower limb	5184	PEPD	ORPHA:742
HP:0002814	Abnormality of the lower limb	80169	CTC1	OMIM:612199
HP:0002814	Abnormality of the lower limb	25871	NEPRO	OMIM:618853
HP:0002814	Abnormality of the lower limb	284403	WDR62	OMIM:604317
HP:0002814	Abnormality of the lower limb	1576	CYP3A4	OMIM:619073
HP:0002814	Abnormality of the lower limb	1962	EHHADH	OMIM:615605
HP:0002814	Abnormality of the lower limb	6569	SLC34A1	ORPHA:157215
HP:0002814	Abnormality of the lower limb	4507	MTAP	OMIM:112250
HP:0002814	Abnormality of the lower limb	54	ACP5	ORPHA:1855
HP:0002814	Abnormality of the lower limb	121340	SP7	OMIM:613849
HP:0002814	Abnormality of the lower limb	55603	TENT5A	OMIM:617952
HP:0002814	Abnormality of the lower limb	166929	SGMS2	OMIM:126550
HP:0002814	Abnormality of the lower limb	55151	TMEM38B	OMIM:615066
HP:0002814	Abnormality of the lower limb	375	ARF1	ORPHA:98892
HP:0002814	Abnormality of the lower limb	10564	ARFGEF2	ORPHA:98892
HP:0002814	Abnormality of the lower limb	91461	PKDCC	OMIM:618821
HP:0002814	Abnormality of the lower limb	4914	NTRK1	ORPHA:642
HP:0002814	Abnormality of the lower limb	120227	CYP2R1	OMIM:600081
HP:0002814	Abnormality of the lower limb	120227	CYP2R1	ORPHA:289157
HP:0002814	Abnormality of the lower limb	1594	CYP27B1	OMIM:264700
HP:0002814	Abnormality of the lower limb	1594	CYP27B1	ORPHA:289157
HP:0002814	Abnormality of the lower limb	1184	CLCN5	OMIM:300554
HP:0002814	Abnormality of the lower limb	1184	CLCN5	OMIM:300009
HP:0002814	Abnormality of the lower limb	142680	SLC34A3	OMIM:241530
HP:0002814	Abnormality of the lower limb	55148	UBR7	OMIM:619189
HP:0002814	Abnormality of the lower limb	9742	IFT140	OMIM:266920
HP:0002814	Abnormality of the lower limb	8985	PLOD3	OMIM:612394
HP:0002814	Abnormality of the lower limb	5286	PIK3C2A	ORPHA:557003
HP:0002814	Abnormality of the lower limb	9949	AMMECR1	OMIM:300990
HP:0002814	Abnormality of the lower limb	10588	MTHFS	OMIM:618367
HP:0002814	Abnormality of the lower limb	65250	CPLANE1	OMIM:277170
HP:0002814	Abnormality of the lower limb	23483	TGDS	OMIM:616145
HP:0002814	Abnormality of the lower limb	55503	TRPV6	OMIM:618188
HP:0002814	Abnormality of the lower limb	815	CAMK2A	OMIM:617798
HP:0002814	Abnormality of the lower limb	8540	AGPS	OMIM:600121
HP:0002814	Abnormality of the lower limb	8802	SUCLG1	ORPHA:17
HP:0002814	Abnormality of the lower limb	202018	TAPT1	OMIM:616897
HP:0002814	Abnormality of the lower limb	871	SERPINH1	OMIM:613848
HP:0002814	Abnormality of the lower limb	5745	PTH1R	ORPHA:79106
HP:0002814	Abnormality of the lower limb	79848	CSPP1	ORPHA:397715
HP:0002814	Abnormality of the lower limb	9786	KIAA0586	ORPHA:397715
HP:0002814	Abnormality of the lower limb	91147	TMEM67	ORPHA:140976
HP:0002814	Abnormality of the lower limb	3373	HYAL1	ORPHA:67041
HP:0002814	Abnormality of the lower limb	60561	RINT1	OMIM:618641
HP:0002814	Abnormality of the lower limb	4088	SMAD3	ORPHA:284984
HP:0002814	Abnormality of the lower limb	4088	SMAD3	OMIM:613795
HP:0002814	Abnormality of the lower limb	2200	FBN1	OMIM:154700
HP:0002814	Abnormality of the lower limb	5176	SERPINF1	OMIM:613982
HP:0002814	Abnormality of the lower limb	10491	CRTAP	OMIM:610682
HP:0002814	Abnormality of the lower limb	7048	TGFBR2	OMIM:610168
HP:0002814	Abnormality of the lower limb	7042	TGFB2	OMIM:614816
HP:0002814	Abnormality of the lower limb	1108	CHD4	OMIM:617159
HP:0002814	Abnormality of the lower limb	54187	NANS	OMIM:610442
HP:0002814	Abnormality of the lower limb	57539	WDR35	OMIM:614091
HP:0002814	Abnormality of the lower limb	3636	INPPL1	OMIM:258480
HP:0002814	Abnormality of the lower limb	633	BGN	OMIM:300106
HP:0002814	Abnormality of the lower limb	26175	LYSET	OMIM:619345
HP:0002814	Abnormality of the lower limb	9321	TRIP11	OMIM:184260
HP:0002814	Abnormality of the lower limb	51098	IFT52	OMIM:617102
HP:0002814	Abnormality of the lower limb	51025	PAM16	OMIM:613320
HP:0002814	Abnormality of the lower limb	23169	SLC35D1	OMIM:269250
HP:0002814	Abnormality of the lower limb	64135	IFIH1	OMIM:182250
HP:0002814	Abnormality of the lower limb	2623	GATA1	OMIM:190685
HP:0002814	Abnormality of the lower limb	79158	GNPTAB	OMIM:252600
HP:0002814	Abnormality of the lower limb	3207	HOXA11	OMIM:605432
HP:0002814	Abnormality of the lower limb	9382	COG1	OMIM:611209
HP:0002814	Abnormality of the lower limb	2157	F8	ORPHA:169805
HP:0002814	Abnormality of the lower limb	7138	TNNT1	ORPHA:98902
HP:0002814	Abnormality of the lower limb	7138	TNNT1	OMIM:605355
HP:0002814	Abnormality of the lower limb	4041	LRP5	ORPHA:2788
HP:0002814	Abnormality of the lower limb	64131	XYLT1	ORPHA:1425
HP:0002814	Abnormality of the lower limb	124583	CANT1	ORPHA:1425
HP:0002814	Abnormality of the lower limb	55790	CSGALNACT1	ORPHA:1425
HP:0002814	Abnormality of the lower limb	3549	IHH	ORPHA:63446
HP:0002814	Abnormality of the lower limb	6473	SHOX	OMIM:127300
HP:0002814	Abnormality of the lower limb	50485	SMARCAL1	ORPHA:1830
HP:0002814	Abnormality of the lower limb	54808	DYM	ORPHA:239
HP:0002814	Abnormality of the lower limb	84572	GNPTG	OMIM:252605
HP:0002814	Abnormality of the lower limb	176	ACAN	OMIM:608361
HP:0002814	Abnormality of the lower limb	11232	POLG2	ORPHA:254892
HP:0002814	Abnormality of the lower limb	50484	RRM2B	ORPHA:254892
HP:0002814	Abnormality of the lower limb	4287	ATXN3	OMIM:109150
HP:0002814	Abnormality of the lower limb	25894	PLEKHG4	ORPHA:98765
HP:0002814	Abnormality of the lower limb	7504	XK	OMIM:300842
HP:0002814	Abnormality of the lower limb	8878	SQSTM1	OMIM:617158
HP:0002814	Abnormality of the lower limb	2632	GBE1	OMIM:263570
HP:0002814	Abnormality of the lower limb	84197	POMK	ORPHA:370959
HP:0002814	Abnormality of the lower limb	55624	POMGNT1	ORPHA:370959
HP:0002814	Abnormality of the lower limb	22954	TRIM32	OMIM:254110
HP:0002814	Abnormality of the lower limb	5468	PPARG	ORPHA:79083
HP:0002814	Abnormality of the lower limb	859	CAV3	ORPHA:488650
HP:0002814	Abnormality of the lower limb	6443	SGCB	OMIM:604286
HP:0002814	Abnormality of the lower limb	2261	FGFR3	OMIM:602849
HP:0002814	Abnormality of the lower limb	1302	COL11A2	OMIM:215150
HP:0002814	Abnormality of the lower limb	2074	ERCC6	OMIM:214150
HP:0002814	Abnormality of the lower limb	23556	PIGN	ORPHA:280633
HP:0002814	Abnormality of the lower limb	2131	EXT1	ORPHA:321
HP:0002814	Abnormality of the lower limb	2132	EXT2	ORPHA:321
HP:0002814	Abnormality of the lower limb	5119	CHMP1A	OMIM:614961
HP:0002814	Abnormality of the lower limb	3187	HNRNPH1	OMIM:620083
HP:0002814	Abnormality of the lower limb	4125	MAN2B1	ORPHA:309282
HP:0002814	Abnormality of the lower limb	4841	NONO	ORPHA:466791
HP:0002814	Abnormality of the lower limb	1788	DNMT3A	OMIM:615879
HP:0002814	Abnormality of the lower limb	25782	RAB3GAP2	OMIM:212720
HP:0002814	Abnormality of the lower limb	3977	LIFR	OMIM:601559
HP:0002814	Abnormality of the lower limb	6335	SCN9A	ORPHA:36387
HP:0002814	Abnormality of the lower limb	112755	STX1B	ORPHA:36387
HP:0002814	Abnormality of the lower limb	2563	GABRD	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6326	SCN2A	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6323	SCN1A	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6324	SCN1B	ORPHA:36387
HP:0002814	Abnormality of the lower limb	348980	HCN1	ORPHA:36387
HP:0002814	Abnormality of the lower limb	84059	ADGRV1	ORPHA:36387
HP:0002814	Abnormality of the lower limb	2566	GABRG2	ORPHA:36387
HP:0002814	Abnormality of the lower limb	833	CARS1	OMIM:618891
HP:0002814	Abnormality of the lower limb	3094	HINT1	ORPHA:324442
HP:0002814	Abnormality of the lower limb	2879	GPX4	OMIM:250220
HP:0002814	Abnormality of the lower limb	9759	HDAC4	OMIM:600430
HP:0002814	Abnormality of the lower limb	9578	CDC42BPB	OMIM:619841
HP:0002814	Abnormality of the lower limb	5191	PEX7	OMIM:266500
HP:0002814	Abnormality of the lower limb	5264	PHYH	OMIM:266500
HP:0002814	Abnormality of the lower limb	94005	PIGS	OMIM:618143
HP:0002814	Abnormality of the lower limb	54585	LZTFL1	OMIM:615994
HP:0002814	Abnormality of the lower limb	55628	ZNF407	OMIM:619557
HP:0002814	Abnormality of the lower limb	2146	EZH2	OMIM:277590
HP:0002814	Abnormality of the lower limb	79633	FAT4	OMIM:615546
HP:0002814	Abnormality of the lower limb	8642	DCHS1	OMIM:601390
HP:0002814	Abnormality of the lower limb	54496	PRMT7	ORPHA:464288
HP:0002814	Abnormality of the lower limb	6925	TCF4	OMIM:610954
HP:0002814	Abnormality of the lower limb	3081	HGD	ORPHA:56
HP:0002814	Abnormality of the lower limb	3081	HGD	OMIM:203500
HP:0002814	Abnormality of the lower limb	3265	HRAS	ORPHA:3071
HP:0002814	Abnormality of the lower limb	3848	KRT1	ORPHA:530838
HP:0002814	Abnormality of the lower limb	10682	EBP	ORPHA:401973
HP:0002814	Abnormality of the lower limb	10682	EBP	OMIM:300960
HP:0002814	Abnormality of the lower limb	658	BMPR1B	OMIM:112600
HP:0002814	Abnormality of the lower limb	8200	GDF5	OMIM:112600
HP:0002814	Abnormality of the lower limb	650	BMP2	OMIM:112600
HP:0002814	Abnormality of the lower limb	22827	PUF60	ORPHA:508498
HP:0002814	Abnormality of the lower limb	11253	MAN1B1	ORPHA:397941
HP:0002814	Abnormality of the lower limb	23394	ADNP	ORPHA:404448
HP:0002814	Abnormality of the lower limb	5898	RALA	OMIM:619311
HP:0002814	Abnormality of the lower limb	8294	H4C9	OMIM:619951
HP:0002814	Abnormality of the lower limb	8506	CNTNAP1	OMIM:618186
HP:0002814	Abnormality of the lower limb	4683	NBN	OMIM:251260
HP:0002814	Abnormality of the lower limb	5885	RAD21	OMIM:614701
HP:0002814	Abnormality of the lower limb	81857	MED25	OMIM:616449
HP:0002814	Abnormality of the lower limb	81857	MED25	ORPHA:464738
HP:0002814	Abnormality of the lower limb	10586	MAB21L2	OMIM:615877
HP:0002814	Abnormality of the lower limb	8854	ALDH1A2	OMIM:620025
HP:0002814	Abnormality of the lower limb	10274	STAG1	ORPHA:502434
HP:0002814	Abnormality of the lower limb	85358	SHANK3	OMIM:606232
HP:0002814	Abnormality of the lower limb	64324	NSD1	ORPHA:821
HP:0002814	Abnormality of the lower limb	29072	SETD2	ORPHA:821
HP:0002814	Abnormality of the lower limb	10297	APC2	ORPHA:821
HP:0002814	Abnormality of the lower limb	55209	SETD5	ORPHA:404440
HP:0002814	Abnormality of the lower limb	10743	RAI1	ORPHA:477817
HP:0002814	Abnormality of the lower limb	23291	FBXW11	OMIM:618914
HP:0002814	Abnormality of the lower limb	10982	MAPRE2	OMIM:616734
HP:0002814	Abnormality of the lower limb	1717	DHCR7	ORPHA:818
HP:0002814	Abnormality of the lower limb	1717	DHCR7	OMIM:270400
HP:0002814	Abnormality of the lower limb	4297	KMT2A	OMIM:605130
HP:0002814	Abnormality of the lower limb	8626	TP63	OMIM:106260
HP:0002814	Abnormality of the lower limb	6660	SOX5	ORPHA:313892
HP:0002814	Abnormality of the lower limb	54880	BCOR	ORPHA:2712
HP:0002814	Abnormality of the lower limb	54880	BCOR	OMIM:300166
HP:0002814	Abnormality of the lower limb	51057	WDPCP	OMIM:217085
HP:0002814	Abnormality of the lower limb	9241	NOG	OMIM:186500
HP:0002814	Abnormality of the lower limb	7319	UBE2A	OMIM:300860
HP:0002814	Abnormality of the lower limb	10087	CERT1	OMIM:616351
HP:0002814	Abnormality of the lower limb	372	ARCN1	OMIM:617164
HP:0002814	Abnormality of the lower limb	164	AP1G1	OMIM:619467
HP:0002814	Abnormality of the lower limb	1656	DDX6	OMIM:618653
HP:0002814	Abnormality of the lower limb	4212	MEIS2	OMIM:600987
HP:0002814	Abnormality of the lower limb	23327	NEDD4L	OMIM:617201
HP:0002814	Abnormality of the lower limb	5147	PDE6D	OMIM:615665
HP:0002814	Abnormality of the lower limb	57178	ZMIZ1	OMIM:618659
HP:0002814	Abnormality of the lower limb	93627	TBCK	ORPHA:488632
HP:0002814	Abnormality of the lower limb	6304	SATB1	OMIM:619229
HP:0002814	Abnormality of the lower limb	80185	TTI2	ORPHA:391307
HP:0002814	Abnormality of the lower limb	26160	IFT172	OMIM:619471
HP:0002814	Abnormality of the lower limb	10664	CTCF	ORPHA:363611
HP:0002814	Abnormality of the lower limb	3590	IL11RA	OMIM:614188
HP:0002814	Abnormality of the lower limb	55165	CEP55	OMIM:236500
HP:0002814	Abnormality of the lower limb	84992	PIGY	OMIM:616809
HP:0002814	Abnormality of the lower limb	10907	TXNL4A	OMIM:608572
HP:0002814	Abnormality of the lower limb	284252	KCTD1	OMIM:181270
HP:0002814	Abnormality of the lower limb	6558	SLC12A2	OMIM:619080
HP:0002814	Abnormality of the lower limb	7204	TRIO	OMIM:617061
HP:0002814	Abnormality of the lower limb	7204	TRIO	ORPHA:476126
HP:0002814	Abnormality of the lower limb	2222	FDFT1	OMIM:618156
HP:0002814	Abnormality of the lower limb	4089	SMAD4	OMIM:139210
HP:0002814	Abnormality of the lower limb	6857	SYT1	ORPHA:522077
HP:0002814	Abnormality of the lower limb	8318	CDC45	OMIM:617063
HP:0002814	Abnormality of the lower limb	6472	SHMT2	OMIM:619121
HP:0002814	Abnormality of the lower limb	112752	IFT43	OMIM:617866
HP:0002814	Abnormality of the lower limb	112752	IFT43	OMIM:614099
HP:0002814	Abnormality of the lower limb	57570	TRMT5	OMIM:616539
HP:0002814	Abnormality of the lower limb	2260	FGFR1	OMIM:123150
HP:0002814	Abnormality of the lower limb	2263	FGFR2	OMIM:123150
HP:0002814	Abnormality of the lower limb	2263	FGFR2	ORPHA:1540
HP:0002814	Abnormality of the lower limb	23529	CLCF1	OMIM:610313
HP:0002814	Abnormality of the lower limb	11128	POLR3A	ORPHA:3455
HP:0002814	Abnormality of the lower limb	745	MYRF	OMIM:618280
HP:0002814	Abnormality of the lower limb	23387	SIK3	OMIM:618162
HP:0002814	Abnormality of the lower limb	10020	GNE	OMIM:269921
HP:0002814	Abnormality of the lower limb	10020	GNE	ORPHA:3166
HP:0002814	Abnormality of the lower limb	1663	DDX11	OMIM:613398
HP:0002814	Abnormality of the lower limb	25836	NIPBL	OMIM:122470
HP:0002814	Abnormality of the lower limb	5718	PSMD12	OMIM:617516
HP:0002814	Abnormality of the lower limb	9757	KMT2B	OMIM:619934
HP:0002814	Abnormality of the lower limb	4848	CNOT2	OMIM:618608
HP:0002814	Abnormality of the lower limb	55023	PHIP	ORPHA:589905
HP:0002814	Abnormality of the lower limb	341208	HEPHL1	OMIM:261990
HP:0002814	Abnormality of the lower limb	55212	BBS7	OMIM:615984
HP:0002814	Abnormality of the lower limb	4208	MEF2C	OMIM:613443
HP:0002814	Abnormality of the lower limb	3516	RBPJ	OMIM:614814
HP:0002814	Abnormality of the lower limb	3720	JARID2	OMIM:620098
HP:0002814	Abnormality of the lower limb	3762	KCNJ5	ORPHA:37553
HP:0002814	Abnormality of the lower limb	3759	KCNJ2	ORPHA:37553
HP:0002814	Abnormality of the lower limb	9990	SLC12A6	OMIM:218000
HP:0002814	Abnormality of the lower limb	3239	HOXD13	OMIM:186000
HP:0002814	Abnormality of the lower limb	3239	HOXD13	OMIM:186300
HP:0002814	Abnormality of the lower limb	6299	SALL1	OMIM:107480
HP:0002814	Abnormality of the lower limb	4613	MYCN	ORPHA:391641
HP:0002814	Abnormality of the lower limb	4613	MYCN	OMIM:164280
HP:0002814	Abnormality of the lower limb	6913	TBX15	OMIM:260660
HP:0002814	Abnormality of the lower limb	54888	NSUN2	OMIM:611091
HP:0002814	Abnormality of the lower limb	50814	NSDHL	OMIM:308050
HP:0002814	Abnormality of the lower limb	92002	CCNQ	OMIM:300707
HP:0002814	Abnormality of the lower limb	81607	NECTIN4	OMIM:613573
HP:0002814	Abnormality of the lower limb	79583	TMEM231	OMIM:614970
HP:0002814	Abnormality of the lower limb	9894	TELO2	ORPHA:488642
HP:0002814	Abnormality of the lower limb	5932	RBBP8	OMIM:251255
HP:0002814	Abnormality of the lower limb	10397	NDRG1	OMIM:601455
HP:0002814	Abnormality of the lower limb	6872	TAF1	OMIM:300966
HP:0002814	Abnormality of the lower limb	4625	MYH7	ORPHA:59135
HP:0002814	Abnormality of the lower limb	56997	COQ8A	ORPHA:139485
HP:0002814	Abnormality of the lower limb	9842	PLEKHM1	OMIM:611497
HP:0002814	Abnormality of the lower limb	9842	PLEKHM1	ORPHA:210110
HP:0002814	Abnormality of the lower limb	1436	CSF1R	OMIM:618476
HP:0002814	Abnormality of the lower limb	5660	PSAP	OMIM:610539
HP:0002814	Abnormality of the lower limb	9499	MYOT	ORPHA:266
HP:0002814	Abnormality of the lower limb	4087	SMAD2	OMIM:619656
HP:0002814	Abnormality of the lower limb	4982	TNFRSF11B	OMIM:239000
HP:0002814	Abnormality of the lower limb	1593	CYP27A1	ORPHA:909
HP:0002814	Abnormality of the lower limb	10342	TFG	ORPHA:431329
HP:0002814	Abnormality of the lower limb	79147	FKRP	ORPHA:34515
HP:0002814	Abnormality of the lower limb	4000	LMNA	ORPHA:79474
HP:0002814	Abnormality of the lower limb	5582	PRKCG	ORPHA:98763
HP:0002814	Abnormality of the lower limb	8139	GAN	ORPHA:643
HP:0002814	Abnormality of the lower limb	23204	ARL6IP1	ORPHA:401780
HP:0002814	Abnormality of the lower limb	5456	POU3F4	ORPHA:1435
HP:0002814	Abnormality of the lower limb	162514	TRPV3	OMIM:616400
HP:0002814	Abnormality of the lower limb	1832	DSP	ORPHA:65282
HP:0002814	Abnormality of the lower limb	2707	GJB3	ORPHA:317
HP:0002814	Abnormality of the lower limb	2707	GJB3	OMIM:133200
HP:0002814	Abnormality of the lower limb	2531	KDSR	ORPHA:317
HP:0002814	Abnormality of the lower limb	127534	GJB4	ORPHA:317
HP:0002814	Abnormality of the lower limb	1327	COX4I1	OMIM:619060
HP:0002814	Abnormality of the lower limb	79152	FA2H	ORPHA:171629
HP:0002814	Abnormality of the lower limb	10352	WARS2	ORPHA:572798
HP:0002814	Abnormality of the lower limb	1737	DLAT	ORPHA:79244
HP:0002814	Abnormality of the lower limb	4204	MECP2	OMIM:300260
HP:0002814	Abnormality of the lower limb	6134	RPL10	OMIM:300998
HP:0002814	Abnormality of the lower limb	8295	TRRAP	OMIM:618454
HP:0002814	Abnormality of the lower limb	91179	SCARF2	OMIM:600920
HP:0002814	Abnormality of the lower limb	23288	IQCE	OMIM:617642
HP:0002814	Abnormality of the lower limb	5587	PRKD1	OMIM:617364
HP:0002814	Abnormality of the lower limb	55784	MCTP2	ORPHA:1596
HP:0002814	Abnormality of the lower limb	775	CACNA1C	OMIM:620029
HP:0002814	Abnormality of the lower limb	8823	FGF16	OMIM:309630
HP:0002814	Abnormality of the lower limb	10522	DEAF1	OMIM:615828
HP:0002814	Abnormality of the lower limb	10079	ATP9A	OMIM:620242
HP:0002814	Abnormality of the lower limb	2556	GABRA3	OMIM:301091
HP:0002814	Abnormality of the lower limb	1298	COL9A2	OMIM:600204
HP:0002814	Abnormality of the lower limb	153241	CEP120	OMIM:616300
HP:0002814	Abnormality of the lower limb	10082	GPC6	OMIM:258315
HP:0002814	Abnormality of the lower limb	7355	SLC35A2	ORPHA:356961
HP:0002814	Abnormality of the lower limb	64093	SMOC1	ORPHA:1106
HP:0002814	Abnormality of the lower limb	79087	ALG12	OMIM:607143
HP:0002814	Abnormality of the lower limb	2317	FLNB	ORPHA:56305
HP:0002814	Abnormality of the lower limb	27152	INTU	OMIM:617925
HP:0002814	Abnormality of the lower limb	3911	LAMA5	OMIM:620076
HP:0002814	Abnormality of the lower limb	29980	DONSON	OMIM:251230
HP:0002814	Abnormality of the lower limb	2737	GLI3	ORPHA:93322
HP:0002814	Abnormality of the lower limb	538	ATP7A	ORPHA:198
HP:0002814	Abnormality of the lower limb	55898	UNC45A	OMIM:619377
HP:0002814	Abnormality of the lower limb	26277	TINF2	OMIM:613990
HP:0002814	Abnormality of the lower limb	91754	NEK9	OMIM:614262
HP:0002814	Abnormality of the lower limb	9652	SKIC3	OMIM:222470
HP:0002814	Abnormality of the lower limb	1857	DVL3	ORPHA:3107
HP:0002814	Abnormality of the lower limb	7474	WNT5A	ORPHA:3107
HP:0002814	Abnormality of the lower limb	1855	DVL1	ORPHA:3107
HP:0002814	Abnormality of the lower limb	2535	FZD2	ORPHA:3107
HP:0002814	Abnormality of the lower limb	1387	CREBBP	ORPHA:353277
HP:0002814	Abnormality of the lower limb	1387	CREBBP	ORPHA:353281
HP:0002814	Abnormality of the lower limb	2335	FN1	ORPHA:93315
HP:0002814	Abnormality of the lower limb	81031	SLC2A10	ORPHA:3342
HP:0002814	Abnormality of the lower limb	9719	ADAMTSL2	ORPHA:1901
HP:0002814	Abnormality of the lower limb	9509	ADAMTS2	ORPHA:1901
HP:0002814	Abnormality of the lower limb	4796	TONSL	ORPHA:93357
HP:0002814	Abnormality of the lower limb	4148	MATN3	ORPHA:93311
HP:0002814	Abnormality of the lower limb	7227	TRPS1	ORPHA:502
HP:0002814	Abnormality of the lower limb	7227	TRPS1	OMIM:190350
HP:0002814	Abnormality of the lower limb	7227	TRPS1	OMIM:190351
HP:0002814	Abnormality of the lower limb	7227	TRPS1	ORPHA:77258
HP:0002814	Abnormality of the lower limb	55325	UFSP2	OMIM:142669
HP:0002814	Abnormality of the lower limb	11277	TREX1	ORPHA:247691
HP:0002814	Abnormality of the lower limb	2033	EP300	ORPHA:353284
HP:0002814	Abnormality of the lower limb	10847	SRCAP	ORPHA:2044
HP:0002814	Abnormality of the lower limb	64374	SIL1	ORPHA:559
HP:0002814	Abnormality of the lower limb	51763	INPP5K	ORPHA:559
HP:0002814	Abnormality of the lower limb	1278	COL1A2	ORPHA:1899
HP:0002814	Abnormality of the lower limb	1277	COL1A1	ORPHA:1899
HP:0002814	Abnormality of the lower limb	4750	NEK1	OMIM:263520
HP:0002814	Abnormality of the lower limb	51776	MAP3K20	ORPHA:488232
HP:0002814	Abnormality of the lower limb	23261	CAMTA1	OMIM:614756
HP:0002814	Abnormality of the lower limb	374969	SVBP	OMIM:618569
HP:0002814	Abnormality of the lower limb	1859	DYRK1A	ORPHA:268261
HP:0002814	Abnormality of the lower limb	2697	GJA1	OMIM:257850
HP:0002814	Abnormality of the lower limb	727857	BHLHA9	ORPHA:3329
HP:0002814	Abnormality of the lower limb	727857	BHLHA9	ORPHA:1986
HP:0002814	Abnormality of the lower limb	57688	ZSWIM6	ORPHA:1827
HP:0002814	Abnormality of the lower limb	64327	LMBR1	ORPHA:988
HP:0002814	Abnormality of the lower limb	6469	SHH	ORPHA:988
HP:0002814	Abnormality of the lower limb	26123	TCTN3	ORPHA:2753
HP:0002814	Abnormality of the lower limb	64127	NOD2	OMIM:186580
HP:0002814	Abnormality of the lower limb	23102	TBC1D2B	OMIM:619323
HP:0002814	Abnormality of the lower limb	5696	PSMB8	OMIM:256040
HP:0002814	Abnormality of the lower limb	4313	MMP2	ORPHA:371428
HP:0002814	Abnormality of the lower limb	4313	MMP2	OMIM:259600
HP:0002814	Abnormality of the lower limb	4323	MMP14	ORPHA:371428
HP:0002814	Abnormality of the lower limb	4323	MMP14	OMIM:277950
HP:0002814	Abnormality of the lower limb	9935	MAFB	OMIM:166300
HP:0002814	Abnormality of the lower limb	23141	ANKLE2	OMIM:616681
HP:0002814	Abnormality of the lower limb	5352	PLOD2	OMIM:609220
HP:0002814	Abnormality of the lower limb	3714	JAG2	OMIM:619566
HP:0002814	Abnormality of the lower limb	2201	FBN2	OMIM:121050
HP:0002814	Abnormality of the lower limb	2673	GFPT1	ORPHA:353327
HP:0002814	Abnormality of the lower limb	1798	DPAGT1	ORPHA:353327
HP:0002814	Abnormality of the lower limb	85365	ALG2	ORPHA:353327
HP:0002814	Abnormality of the lower limb	85365	ALG2	OMIM:616228
HP:0002814	Abnormality of the lower limb	199857	ALG14	ORPHA:353327
HP:0002814	Abnormality of the lower limb	23321	TRIM2	OMIM:615490
HP:0002814	Abnormality of the lower limb	92255	LMBRD2	OMIM:619694
HP:0002814	Abnormality of the lower limb	2010	EMD	OMIM:310300
HP:0002814	Abnormality of the lower limb	5277	PIGA	OMIM:300868
HP:0002814	Abnormality of the lower limb	2783	GNB2	OMIM:619503
HP:0002814	Abnormality of the lower limb	4632	MYL1	OMIM:618414
HP:0002814	Abnormality of the lower limb	3930	LBR	OMIM:618019
HP:0002814	Abnormality of the lower limb	79644	SRD5A3	OMIM:612713
HP:0002814	Abnormality of the lower limb	9531	BAG3	OMIM:612954
HP:0002814	Abnormality of the lower limb	9653	HS2ST1	OMIM:619194
HP:0002814	Abnormality of the lower limb	9051	PSTPIP1	OMIM:604416
HP:0002814	Abnormality of the lower limb	9791	PTDSS1	OMIM:151050
HP:0002814	Abnormality of the lower limb	29895	MYL11	OMIM:619110
HP:0002814	Abnormality of the lower limb	285175	UNC80	ORPHA:371364
HP:0002814	Abnormality of the lower limb	26137	ZBTB20	OMIM:259050
HP:0002814	Abnormality of the lower limb	1376	CPT2	OMIM:608836
HP:0002814	Abnormality of the lower limb	5296	PIK3R2	OMIM:603387
HP:0002814	Abnormality of the lower limb	339855	KY	ORPHA:496689
HP:0002814	Abnormality of the lower limb	6389	SDHA	ORPHA:3208
HP:0002814	Abnormality of the lower limb	6390	SDHB	ORPHA:3208
HP:0002814	Abnormality of the lower limb	6392	SDHD	ORPHA:3208
HP:0002814	Abnormality of the lower limb	644096	SDHAF1	ORPHA:3208
HP:0002814	Abnormality of the lower limb	64116	SLC39A8	ORPHA:468699
HP:0002814	Abnormality of the lower limb	91137	SLC25A46	OMIM:619303
HP:0002814	Abnormality of the lower limb	1140	CHRNB1	OMIM:616313
HP:0002814	Abnormality of the lower limb	8449	DHX16	OMIM:618733
HP:0002814	Abnormality of the lower limb	56172	ANKH	OMIM:123000
HP:0002814	Abnormality of the lower limb	249	ALPL	OMIM:241500
HP:0002814	Abnormality of the lower limb	5479	PPIB	OMIM:259440
HP:0002814	Abnormality of the lower limb	649	BMP1	OMIM:614856
HP:0002814	Abnormality of the lower limb	26040	SETBP1	OMIM:269150
HP:0002814	Abnormality of the lower limb	7415	VCP	ORPHA:435387
HP:0002814	Abnormality of the lower limb	2318	FLNC	ORPHA:63273
HP:0002814	Abnormality of the lower limb	1297	COL9A1	OMIM:614135
HP:0002814	Abnormality of the lower limb	9131	AIFM1	OMIM:300232
HP:0002814	Abnormality of the lower limb	1300	COL10A1	OMIM:156500
HP:0002814	Abnormality of the lower limb	91252	SLC39A13	ORPHA:157965
HP:0002814	Abnormality of the lower limb	91252	SLC39A13	OMIM:612350
HP:0002814	Abnormality of the lower limb	79639	TMEM53	OMIM:619727
HP:0002814	Abnormality of the lower limb	5251	PHEX	OMIM:307800
HP:0002814	Abnormality of the lower limb	5251	PHEX	ORPHA:89936
HP:0002814	Abnormality of the lower limb	545	ATR	OMIM:210600
HP:0002814	Abnormality of the lower limb	25839	COG4	OMIM:618150
HP:0002814	Abnormality of the lower limb	4998	ORC1	OMIM:224690
HP:0002814	Abnormality of the lower limb	4998	ORC1	ORPHA:2554
HP:0002814	Abnormality of the lower limb	4010	LMX1B	ORPHA:2614
HP:0002814	Abnormality of the lower limb	4010	LMX1B	OMIM:161200
HP:0002814	Abnormality of the lower limb	4010	LMX1B	ORPHA:495818
HP:0002814	Abnormality of the lower limb	9939	RBM8A	OMIM:274000
HP:0002814	Abnormality of the lower limb	81620	CDT1	ORPHA:2554
HP:0002814	Abnormality of the lower limb	81620	CDT1	OMIM:613804
HP:0002814	Abnormality of the lower limb	5000	ORC4	ORPHA:2554
HP:0002814	Abnormality of the lower limb	5000	ORC4	OMIM:613800
HP:0002814	Abnormality of the lower limb	23594	ORC6	ORPHA:2554
HP:0002814	Abnormality of the lower limb	23594	ORC6	OMIM:613803
HP:0002814	Abnormality of the lower limb	990	CDC6	ORPHA:2554
HP:0002814	Abnormality of the lower limb	990	CDC6	OMIM:613805
HP:0002814	Abnormality of the lower limb	51053	GMNN	ORPHA:2554
HP:0002814	Abnormality of the lower limb	51053	GMNN	OMIM:616835
HP:0002814	Abnormality of the lower limb	6812	STXBP1	ORPHA:495818
HP:0002814	Abnormality of the lower limb	29920	PYCR2	ORPHA:481152
HP:0002814	Abnormality of the lower limb	1291	COL6A1	OMIM:254090
HP:0002814	Abnormality of the lower limb	1292	COL6A2	OMIM:254090
HP:0002814	Abnormality of the lower limb	1293	COL6A3	OMIM:254090
HP:0002814	Abnormality of the lower limb	5979	RET	OMIM:162300
HP:0002814	Abnormality of the lower limb	2972	BRF1	OMIM:616202
HP:0002814	Abnormality of the lower limb	5116	PCNT	OMIM:210720
HP:0002814	Abnormality of the lower limb	51119	SBDS	OMIM:260400
HP:0002814	Abnormality of the lower limb	51119	SBDS	ORPHA:811
HP:0002814	Abnormality of the lower limb	6729	SRP54	OMIM:260400
HP:0002814	Abnormality of the lower limb	6729	SRP54	ORPHA:811
HP:0002814	Abnormality of the lower limb	79631	EFL1	ORPHA:811
HP:0002814	Abnormality of the lower limb	2184	FAH	ORPHA:882
HP:0002814	Abnormality of the lower limb	1758	DMP1	ORPHA:289176
HP:0002814	Abnormality of the lower limb	11160	ERLIN2	ORPHA:280384
HP:0002814	Abnormality of the lower limb	11160	ERLIN2	ORPHA:209951
HP:0002814	Abnormality of the lower limb	25914	RTTN	ORPHA:468631
HP:0002814	Abnormality of the lower limb	1605	DAG1	OMIM:613818
HP:0002814	Abnormality of the lower limb	1605	DAG1	ORPHA:280333
HP:0002814	Abnormality of the lower limb	6442	SGCA	OMIM:608099
HP:0002814	Abnormality of the lower limb	6840	SVIL	OMIM:619040
HP:0002814	Abnormality of the lower limb	1303	COL12A1	ORPHA:536516
HP:0002814	Abnormality of the lower limb	1303	COL12A1	ORPHA:610
HP:0002814	Abnormality of the lower limb	825	CAPN3	ORPHA:267
HP:0002814	Abnormality of the lower limb	22978	NT5C2	ORPHA:320396
HP:0002814	Abnormality of the lower limb	83636	C19orf12	OMIM:615043
HP:0002814	Abnormality of the lower limb	84876	ORAI1	OMIM:615883
HP:0002814	Abnormality of the lower limb	163175	LGI4	OMIM:617468
HP:0002814	Abnormality of the lower limb	6509	SLC1A4	OMIM:616657
HP:0002814	Abnormality of the lower limb	60681	FKBP10	OMIM:259450
HP:0002814	Abnormality of the lower limb	4773	NFATC2	OMIM:620232
HP:0002814	Abnormality of the lower limb	87178	PNPT1	ORPHA:319514
HP:0002814	Abnormality of the lower limb	26092	TOR1AIP1	OMIM:617072
HP:0002814	Abnormality of the lower limb	8813	DPM1	OMIM:608799
HP:0002814	Abnormality of the lower limb	210	ALAD	ORPHA:100924
HP:0002814	Abnormality of the lower limb	513	ATP5F1D	OMIM:618120
HP:0002814	Abnormality of the lower limb	7317	UBA1	ORPHA:1145
HP:0002814	Abnormality of the lower limb	80208	SPG11	OMIM:616668
HP:0002814	Abnormality of the lower limb	57731	SPTBN4	OMIM:617519
HP:0002814	Abnormality of the lower limb	157570	ESCO2	OMIM:268300
HP:0002814	Abnormality of the lower limb	29968	PSAT1	ORPHA:284417
HP:0002814	Abnormality of the lower limb	5297	PI4KA	OMIM:619621
HP:0002814	Abnormality of the lower limb	497661	C18orf32	OMIM:619985
HP:0002814	Abnormality of the lower limb	4921	DDR2	OMIM:618175
HP:0002814	Abnormality of the lower limb	4703	NEB	ORPHA:399103
HP:0002814	Abnormality of the lower limb	7407	VARS1	OMIM:617802
HP:0002814	Abnormality of the lower limb	203859	ANO5	ORPHA:206549
HP:0002814	Abnormality of the lower limb	5925	RB1	ORPHA:668
HP:0002814	Abnormality of the lower limb	11200	CHEK2	ORPHA:668
HP:0002814	Abnormality of the lower limb	5700	PSMC1	OMIM:620071
HP:0002814	Abnormality of the lower limb	59345	GNB4	OMIM:615185
HP:0002814	Abnormality of the lower limb	55958	KLHL9	ORPHA:399081
HP:0002814	Abnormality of the lower limb	5375	PMP2	OMIM:618279
HP:0002814	Abnormality of the lower limb	10516	FBLN5	OMIM:619764
HP:0002814	Abnormality of the lower limb	10613	ERLIN1	OMIM:615681
HP:0002814	Abnormality of the lower limb	8988	HSPB3	OMIM:613376
HP:0002814	Abnormality of the lower limb	7453	WARS1	OMIM:617721
HP:0002814	Abnormality of the lower limb	79784	MYH14	OMIM:614369
HP:0002814	Abnormality of the lower limb	9927	MFN2	ORPHA:99947
HP:0002814	Abnormality of the lower limb	6606	SMN1	OMIM:253400
HP:0002814	Abnormality of the lower limb	6607	SMN2	OMIM:253400
HP:0002814	Abnormality of the lower limb	1080	CFTR	ORPHA:498359
HP:0002814	Abnormality of the lower limb	1508	CTSB	OMIM:148370
HP:0002814	Abnormality of the lower limb	8710	SERPINB7	OMIM:615598
HP:0002814	Abnormality of the lower limb	64065	PERP	ORPHA:659
HP:0002814	Abnormality of the lower limb	284654	RSPO1	OMIM:610644
HP:0002814	Abnormality of the lower limb	1041	CDSN	OMIM:270300
HP:0002814	Abnormality of the lower limb	5317	PKP1	OMIM:604536
HP:0002814	Abnormality of the lower limb	3868	KRT16	ORPHA:2309
HP:0002814	Abnormality of the lower limb	3872	KRT17	ORPHA:2309
HP:0002814	Abnormality of the lower limb	3854	KRT6B	ORPHA:2309
HP:0002814	Abnormality of the lower limb	1828	DSG1	OMIM:148700
HP:0002814	Abnormality of the lower limb	362	AQP5	OMIM:600231
HP:0002814	Abnormality of the lower limb	362	AQP5	ORPHA:2337
HP:0002814	Abnormality of the lower limb	3728	JUP	OMIM:601214
HP:0002814	Abnormality of the lower limb	145264	SERPINA12	ORPHA:86923
HP:0002814	Abnormality of the lower limb	54800	KLHL24	OMIM:617294
HP:0002814	Abnormality of the lower limb	9342	SNAP29	ORPHA:66631
HP:0002814	Abnormality of the lower limb	4014	LORICRIN	OMIM:604117
HP:0002814	Abnormality of the lower limb	4014	LORICRIN	ORPHA:79395
HP:0002814	Abnormality of the lower limb	51371	POMP	OMIM:601952
HP:0002814	Abnormality of the lower limb	715	C1R	OMIM:130080
HP:0002814	Abnormality of the lower limb	22808	MRAS	OMIM:618499
HP:0002814	Abnormality of the lower limb	8216	LZTR1	OMIM:616564
HP:0002814	Abnormality of the lower limb	8216	LZTR1	OMIM:605275
HP:0002814	Abnormality of the lower limb	6016	RIT1	OMIM:615355
HP:0002814	Abnormality of the lower limb	488	ATP2A2	OMIM:101900
HP:0002814	Abnormality of the lower limb	488	ATP2A2	ORPHA:79151
HP:0002814	Abnormality of the lower limb	831	CAST	OMIM:616295
HP:0002814	Abnormality of the lower limb	79719	AAGAB	OMIM:148600
HP:0002814	Abnormality of the lower limb	26276	VPS33B	OMIM:620009
HP:0002814	Abnormality of the lower limb	56916	SMARCAD1	OMIM:181600
HP:0002814	Abnormality of the lower limb	1075	CTSC	OMIM:245010
HP:0002814	Abnormality of the lower limb	57152	SLURP1	OMIM:248300
HP:0002814	Abnormality of the lower limb	5339	PLEC	OMIM:616487
HP:0002814	Abnormality of the lower limb	3914	LAMB3	OMIM:226650
HP:0002814	Abnormality of the lower limb	286887	KRT6C	OMIM:615735
HP:0002814	Abnormality of the lower limb	3852	KRT5	ORPHA:79397
HP:0002814	Abnormality of the lower limb	3852	KRT5	ORPHA:79399
HP:0002814	Abnormality of the lower limb	3852	KRT5	ORPHA:79400
HP:0002814	Abnormality of the lower limb	3861	KRT14	ORPHA:79397
HP:0002814	Abnormality of the lower limb	3861	KRT14	ORPHA:79399
HP:0002814	Abnormality of the lower limb	3861	KRT14	ORPHA:79400
HP:0002814	Abnormality of the lower limb	3853	KRT6A	OMIM:615726
HP:0002814	Abnormality of the lower limb	29926	GMPPA	ORPHA:869
HP:0002814	Abnormality of the lower limb	60684	TRAPPC11	ORPHA:869
HP:0002814	Abnormality of the lower limb	8086	AAAS	ORPHA:869
HP:0002814	Abnormality of the lower limb	80326	WNT10A	OMIM:257980
HP:0002814	Abnormality of the lower limb	3857	KRT9	OMIM:144200
HP:0002814	Abnormality of the lower limb	79650	USB1	OMIM:604173
HP:0002814	Abnormality of the lower limb	64682	ANAPC1	ORPHA:221008
HP:0002814	Abnormality of the lower limb	56006	SMG9	OMIM:619995
HP:0002814	Abnormality of the lower limb	9325	TRIP4	OMIM:617066
HP:0002814	Abnormality of the lower limb	9325	TRIP4	ORPHA:486815
HP:0002814	Abnormality of the lower limb	91869	RFT1	OMIM:612015
HP:0002814	Abnormality of the lower limb	55107	ANO1	OMIM:620045
HP:0002814	Abnormality of the lower limb	3209	HOXA13	OMIM:140000
HP:0002814	Abnormality of the lower limb	23230	VPS13A	ORPHA:2388
HP:0002814	Abnormality of the lower limb	10667	FARS2	ORPHA:466722
HP:0002814	Abnormality of the lower limb	526	ATP6V1B2	ORPHA:79500
HP:0002814	Abnormality of the lower limb	57465	TBC1D24	ORPHA:79500
HP:0002814	Abnormality of the lower limb	673	BRAF	OMIM:115150
HP:0002814	Abnormality of the lower limb	9987	HNRNPDL	OMIM:609115
HP:0002814	Abnormality of the lower limb	5376	PMP22	ORPHA:90658
HP:0002814	Abnormality of the lower limb	8242	KDM5C	OMIM:300534
HP:0002814	Abnormality of the lower limb	9451	EIF2AK3	OMIM:226980
HP:0002814	Abnormality of the lower limb	10804	GJB6	ORPHA:477
HP:0002814	Abnormality of the lower limb	2706	GJB2	ORPHA:477
HP:0002814	Abnormality of the lower limb	3236	HOXD10	OMIM:192950
HP:0002814	Abnormality of the lower limb	165	AEBP1	ORPHA:536532
HP:0002814	Abnormality of the lower limb	10013	HDAC6	ORPHA:163966
HP:0002814	Abnormality of the lower limb	51305	KCNK9	ORPHA:166108
HP:0002814	Abnormality of the lower limb	4604	MYBPC1	OMIM:614335
HP:0002814	Abnormality of the lower limb	4312	MMP1	ORPHA:79408
HP:0002814	Abnormality of the lower limb	23259	DDHD2	ORPHA:320380
HP:0002814	Abnormality of the lower limb	54828	BCAS3	OMIM:619641
HP:0002814	Abnormality of the lower limb	1235	CCR6	ORPHA:220402
HP:0002814	Abnormality of the lower limb	79932	KIAA0319L	ORPHA:220402
HP:0002814	Abnormality of the lower limb	1490	CCN2	ORPHA:220402
HP:0002814	Abnormality of the lower limb	3663	IRF5	ORPHA:220402
HP:0002814	Abnormality of the lower limb	857	CAV1	ORPHA:220402
HP:0002814	Abnormality of the lower limb	3123	HLA-DRB1	ORPHA:220402
HP:0002814	Abnormality of the lower limb	1161	ERCC8	ORPHA:90321
HP:0002814	Abnormality of the lower limb	5447	POR	OMIM:201750
HP:0002814	Abnormality of the lower limb	5447	POR	ORPHA:95699
HP:0002814	Abnormality of the lower limb	22856	CHSY1	ORPHA:363417
HP:0002814	Abnormality of the lower limb	22856	CHSY1	OMIM:605282
HP:0002814	Abnormality of the lower limb	392255	GDF6	OMIM:617898
HP:0002814	Abnormality of the lower limb	259232	NALCN	ORPHA:1147
HP:0002814	Abnormality of the lower limb	7136	TNNI2	ORPHA:1147
HP:0002814	Abnormality of the lower limb	8481	OFD1	ORPHA:2750
HP:0002814	Abnormality of the lower limb	2192	FBLN1	OMIM:608180
HP:0002814	Abnormality of the lower limb	57477	SHROOM4	ORPHA:85288
HP:0002814	Abnormality of the lower limb	8218	CLTCL1	ORPHA:453510
HP:0002814	Abnormality of the lower limb	64175	P3H1	OMIM:610915
HP:0002814	Abnormality of the lower limb	9496	TBX4	OMIM:147891
HP:0002814	Abnormality of the lower limb	3459	IFNGR1	OMIM:209950
HP:0002814	Abnormality of the lower limb	3425	IDUA	OMIM:607014
HP:0002814	Abnormality of the lower limb	10940	POP1	OMIM:617396
HP:0002814	Abnormality of the lower limb	26146	TRAF3IP1	OMIM:616629
HP:0002814	Abnormality of the lower limb	100151683	RNU4ATAC	ORPHA:353298
HP:0002814	Abnormality of the lower limb	1311	COMP	ORPHA:750
HP:0002814	Abnormality of the lower limb	2137	EXTL3	ORPHA:508533
HP:0002814	Abnormality of the lower limb	1146	CHRNG	OMIM:265000
HP:0002814	Abnormality of the lower limb	10717	AP4B1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	10717	AP4B1	OMIM:614066
HP:0002814	Abnormality of the lower limb	9179	AP4M1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	11154	AP4S1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	23431	AP4E1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	126792	B3GALT6	ORPHA:536467
HP:0002814	Abnormality of the lower limb	29928	TIMM22	OMIM:618851
HP:0002814	Abnormality of the lower limb	6210	RPS15A	OMIM:618313
HP:0002814	Abnormality of the lower limb	9775	EIF4A3	OMIM:268305
HP:0002814	Abnormality of the lower limb	25885	POLR1A	OMIM:616462
HP:0002814	Abnormality of the lower limb	1836	SLC26A2	ORPHA:93307
HP:0002814	Abnormality of the lower limb	2990	GUSB	OMIM:253220
HP:0002814	Abnormality of the lower limb	23443	SLC35A3	OMIM:615553
HP:0002814	Abnormality of the lower limb	65082	VPS33A	OMIM:617303
HP:0002814	Abnormality of the lower limb	84700	MYO18B	OMIM:616549
HP:0002814	Abnormality of the lower limb	55681	SCYL2	ORPHA:1143
HP:0002814	Abnormality of the lower limb	84570	COL25A1	ORPHA:1143
HP:0002814	Abnormality of the lower limb	57222	ERGIC1	ORPHA:1143
HP:0002814	Abnormality of the lower limb	4897	NRCAM	OMIM:619833
HP:0002814	Abnormality of the lower limb	2720	GLB1	ORPHA:79255
HP:0002814	Abnormality of the lower limb	8546	AP3B1	OMIM:608233
HP:0002814	Abnormality of the lower limb	6399	TRAPPC2	ORPHA:93284
HP:0002814	Abnormality of the lower limb	83452	RAB33B	OMIM:615222
HP:0002814	Abnormality of the lower limb	59341	TRPV4	ORPHA:86820
HP:0002814	Abnormality of the lower limb	1280	COL2A1	ORPHA:86820
HP:0002814	Abnormality of the lower limb	1280	COL2A1	ORPHA:166011
HP:0002814	Abnormality of the lower limb	1280	COL2A1	ORPHA:1856
HP:0002814	Abnormality of the lower limb	89970	RSPRY1	ORPHA:457395
HP:0002814	Abnormality of the lower limb	10216	PRG4	ORPHA:2848
HP:0002814	Abnormality of the lower limb	5626	PROP1	ORPHA:226307
HP:0002814	Abnormality of the lower limb	89884	LHX4	ORPHA:226307
HP:0002814	Abnormality of the lower limb	8022	LHX3	ORPHA:226307
HP:0002814	Abnormality of the lower limb	5449	POU1F1	ORPHA:226307
HP:0002814	Abnormality of the lower limb	8820	HESX1	ORPHA:226307
HP:0002814	Abnormality of the lower limb	405753	DUOXA2	ORPHA:95716
HP:0002814	Abnormality of the lower limb	6528	SLC5A5	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7038	TG	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7173	TPO	ORPHA:95716
HP:0002814	Abnormality of the lower limb	389434	IYD	ORPHA:95716
HP:0002814	Abnormality of the lower limb	50506	DUOX2	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7253	TSHR	ORPHA:90673
HP:0002814	Abnormality of the lower limb	7252	TSHB	ORPHA:90674
HP:0002814	Abnormality of the lower limb	153642	ARSK	OMIM:619698
HP:0002814	Abnormality of the lower limb	203547	VMA21	OMIM:310440
HP:0002814	Abnormality of the lower limb	6736	SRY	ORPHA:1772
HP:0002814	Abnormality of the lower limb	1180	CLCN1	OMIM:255700
HP:0002814	Abnormality of the lower limb	55157	DARS2	ORPHA:137898
HP:0002814	Abnormality of the lower limb	10367	MICU1	OMIM:615673
HP:0002814	Abnormality of the lower limb	4618	MYF6	ORPHA:169189
HP:0002814	Abnormality of the lower limb	5346	PLIN1	ORPHA:280356
HP:0002814	Abnormality of the lower limb	63924	CIDEC	ORPHA:435651
HP:0002814	Abnormality of the lower limb	3736	KCNA1	ORPHA:37612
HP:0002814	Abnormality of the lower limb	6444	SGCD	OMIM:601287
HP:0002814	Abnormality of the lower limb	2483	FRG1	OMIM:158900
HP:0002814	Abnormality of the lower limb	146862	UNC45B	OMIM:619178
HP:0002814	Abnormality of the lower limb	64208	POPDC3	OMIM:618848
HP:0002814	Abnormality of the lower limb	84892	POMGNT2	OMIM:618135
HP:0002814	Abnormality of the lower limb	3908	LAMA2	OMIM:618138
HP:0002814	Abnormality of the lower limb	367	AR	OMIM:313200
HP:0002814	Abnormality of the lower limb	8425	LTBP4	ORPHA:98896
HP:0002814	Abnormality of the lower limb	9897	WASHC5	ORPHA:100989
HP:0002814	Abnormality of the lower limb	7273	TTN	ORPHA:609
HP:0002814	Abnormality of the lower limb	26278	SACS	OMIM:270550
HP:0002814	Abnormality of the lower limb	51062	ATL1	ORPHA:100984
HP:0002814	Abnormality of the lower limb	4137	MAPT	ORPHA:240094
HP:0002814	Abnormality of the lower limb	9782	MATR3	OMIM:606070
HP:0002814	Abnormality of the lower limb	4311	MME	OMIM:617017
HP:0002814	Abnormality of the lower limb	4311	MME	ORPHA:497764
HP:0002814	Abnormality of the lower limb	4508	MT-ATP6	ORPHA:320360
HP:0002814	Abnormality of the lower limb	2617	GARS1	ORPHA:139536
HP:0002814	Abnormality of the lower limb	26580	BSCL2	ORPHA:139536
HP:0002814	Abnormality of the lower limb	26580	BSCL2	OMIM:619112
HP:0002814	Abnormality of the lower limb	11284	PNKP	ORPHA:459033
HP:0002814	Abnormality of the lower limb	55775	TDP1	ORPHA:94124
HP:0002814	Abnormality of the lower limb	7879	RAB7A	OMIM:600882
HP:0002814	Abnormality of the lower limb	6652	SORD	OMIM:618912
HP:0002814	Abnormality of the lower limb	79048	SECISBP2	ORPHA:171706
HP:0002814	Abnormality of the lower limb	22880	MORC2	ORPHA:466768
HP:0002814	Abnormality of the lower limb	3035	HARS1	ORPHA:488333
HP:0002814	Abnormality of the lower limb	3315	HSPB1	OMIM:608634
HP:0002814	Abnormality of the lower limb	215	ABCD1	ORPHA:139399
HP:0002814	Abnormality of the lower limb	10908	PNPLA6	OMIM:612020
HP:0002814	Abnormality of the lower limb	64856	VWA1	OMIM:619216
HP:0002814	Abnormality of the lower limb	4547	MTTP	ORPHA:14
HP:0002814	Abnormality of the lower limb	8557	TCAP	OMIM:601954
HP:0002814	Abnormality of the lower limb	9517	SPTLC2	OMIM:613640
HP:0002814	Abnormality of the lower limb	8884	SLC5A6	OMIM:619903
HP:0002814	Abnormality of the lower limb	55526	DHTKD1	OMIM:615025
HP:0002814	Abnormality of the lower limb	121512	FGD4	OMIM:609311
HP:0002814	Abnormality of the lower limb	10755	GIPC1	ORPHA:98897
HP:0002814	Abnormality of the lower limb	100996717	NOTCH2NLC	ORPHA:98897
HP:0002814	Abnormality of the lower limb	400916	CHCHD10	ORPHA:457050
HP:0002814	Abnormality of the lower limb	400916	CHCHD10	ORPHA:276435
HP:0002814	Abnormality of the lower limb	1785	DNM2	OMIM:160150
HP:0002814	Abnormality of the lower limb	64419	MTMR14	OMIM:160150
HP:0002814	Abnormality of the lower limb	6305	SBF1	OMIM:615284
HP:0002814	Abnormality of the lower limb	26353	HSPB8	OMIM:158590
HP:0002814	Abnormality of the lower limb	7428	VHL	ORPHA:892
HP:0002814	Abnormality of the lower limb	595	CCND1	ORPHA:892
HP:0002814	Abnormality of the lower limb	11117	EMILIN1	OMIM:620080
HP:0002814	Abnormality of the lower limb	1674	DES	ORPHA:98909
HP:0002814	Abnormality of the lower limb	81846	SBF2	ORPHA:99956
HP:0002814	Abnormality of the lower limb	57410	SCYL1	ORPHA:466794
HP:0002814	Abnormality of the lower limb	126129	CPT1C	ORPHA:444099
HP:0002814	Abnormality of the lower limb	23676	SMPX	OMIM:301075
HP:0002814	Abnormality of the lower limb	4359	MPZ	OMIM:145900
HP:0002814	Abnormality of the lower limb	1959	EGR2	OMIM:145900
HP:0002814	Abnormality of the lower limb	57716	PRX	OMIM:145900
HP:0002814	Abnormality of the lower limb	55149	MTPAP	OMIM:613672
HP:0002814	Abnormality of the lower limb	81545	FBXO38	OMIM:615575
HP:0002814	Abnormality of the lower limb	200205	IBA57	ORPHA:468661
HP:0002814	Abnormality of the lower limb	54332	GDAP1	ORPHA:99948
HP:0002814	Abnormality of the lower limb	5165	PDK3	OMIM:300905
HP:0002814	Abnormality of the lower limb	1410	CRYAB	OMIM:608810
HP:0002814	Abnormality of the lower limb	122622	ADSS1	ORPHA:482601
HP:0002814	Abnormality of the lower limb	11155	LDB3	ORPHA:98912
HP:0002814	Abnormality of the lower limb	415	ARSL	ORPHA:79345
HP:0002814	Abnormality of the lower limb	4763	NF1	OMIM:162200
HP:0002814	Abnormality of the lower limb	1001	CDH3	OMIM:225280
HP:0002814	Abnormality of the lower limb	1147	CHUK	OMIM:613630
HP:0002814	Abnormality of the lower limb	9060	PAPSS2	OMIM:612847
HP:0002814	Abnormality of the lower limb	1009	CDH11	ORPHA:1299
HP:0002814	Abnormality of the lower limb	5518	PPP2R1A	OMIM:616362
HP:0002814	Abnormality of the lower limb	5518	PPP2R1A	ORPHA:457284
HP:0002814	Abnormality of the lower limb	6477	SIAH1	OMIM:619314
HP:0002814	Abnormality of the lower limb	10059	DNM1L	OMIM:614388
HP:0002814	Abnormality of the lower limb	79005	SCNM1	OMIM:620107
HP:0002814	Abnormality of the lower limb	4329	ALDH6A1	OMIM:614105
HP:0002814	Abnormality of the lower limb	84720	PIGO	OMIM:614749
HP:0002814	Abnormality of the lower limb	80036	TRPM3	OMIM:620224
HP:0002814	Abnormality of the lower limb	9839	ZEB2	ORPHA:261537
HP:0002814	Abnormality of the lower limb	9839	ZEB2	ORPHA:261552
HP:0002814	Abnormality of the lower limb	10236	HNRNPR	OMIM:620073
HP:0002814	Abnormality of the lower limb	1457	CSNK2A1	OMIM:617062
HP:0002814	Abnormality of the lower limb	28952	CCDC22	OMIM:300963
HP:0002814	Abnormality of the lower limb	4882	NPR2	OMIM:615923
HP:0002814	Abnormality of the lower limb	9968	MED12	OMIM:305450
HP:0002814	Abnormality of the lower limb	137814	NKX2-6	OMIM:217095
HP:0002814	Abnormality of the lower limb	1482	NKX2-5	OMIM:217095
HP:0002814	Abnormality of the lower limb	6899	TBX1	OMIM:217095
HP:0002814	Abnormality of the lower limb	2627	GATA6	OMIM:217095
HP:0002814	Abnormality of the lower limb	1749	DLX5	OMIM:183600
HP:0002814	Abnormality of the lower limb	50515	CHST11	OMIM:618167
HP:0002814	Abnormality of the lower limb	2186	BPTF	OMIM:617755
HP:0002814	Abnormality of the lower limb	387	RHOA	OMIM:618727
HP:0002814	Abnormality of the lower limb	51594	NBAS	OMIM:614800
HP:0002814	Abnormality of the lower limb	3756	KCNH1	OMIM:611816
HP:0002814	Abnormality of the lower limb	444	ASPH	OMIM:601552
HP:0002814	Abnormality of the lower limb	2702	GJA5	OMIM:612474
HP:0002814	Abnormality of the lower limb	2703	GJA8	OMIM:612474
HP:0002814	Abnormality of the lower limb	6878	TAF6	OMIM:617126
HP:0002814	Abnormality of the lower limb	90	ACVR1	ORPHA:337
HP:0002814	Abnormality of the lower limb	1947	EFNB1	ORPHA:1520
HP:0002814	Abnormality of the lower limb	64359	NXN	ORPHA:1507
HP:0002814	Abnormality of the lower limb	4920	ROR2	ORPHA:1507
HP:0002814	Abnormality of the lower limb	2626	GATA4	ORPHA:251071
HP:0002814	Abnormality of the lower limb	285362	SUMF1	ORPHA:585
HP:0002814	Abnormality of the lower limb	23314	SATB2	ORPHA:251019
HP:0002814	Abnormality of the lower limb	57167	SALL4	ORPHA:959
HP:0002814	Abnormality of the lower limb	51339	DACT1	ORPHA:857
HP:0002814	Abnormality of the lower limb	3764	KCNJ8	ORPHA:1517
HP:0002814	Abnormality of the lower limb	2313	FLI1	ORPHA:2308
HP:0002814	Abnormality of the lower limb	60	ACTB	OMIM:243310
HP:0002814	Abnormality of the lower limb	9851	KIAA0753	OMIM:617127
HP:0002814	Abnormality of the lower limb	374654	KIF7	OMIM:200990
HP:0002814	Abnormality of the lower limb	219844	HYLS1	OMIM:236680
HP:0002814	Abnormality of the lower limb	26005	C2CD3	ORPHA:434179
HP:0002814	Abnormality of the lower limb	55697	VAC14	ORPHA:3472
HP:0002814	Abnormality of the lower limb	79989	IFT56	OMIM:619534
HP:0002814	Abnormality of the lower limb	5744	PTHLH	ORPHA:93387
HP:0002814	Abnormality of the lower limb	10716	TBR1	ORPHA:1617
HP:0002814	Abnormality of the lower limb	7291	TWIST1	OMIM:180750
HP:0002814	Abnormality of the lower limb	51715	RAB23	OMIM:201000
HP:0002814	Abnormality of the lower limb	57020	VPS35L	OMIM:619135
HP:0002814	Abnormality of the lower limb	4256	MGP	OMIM:245150
HP:0002814	Abnormality of the lower limb	657	BMPR1A	ORPHA:79076
HP:0002814	Abnormality of the lower limb	9091	PIGQ	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2775	GNAO1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2902	GRIN1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	79751	SLC25A22	ORPHA:1934
HP:0002814	Abnormality of the lower limb	150094	SIK1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	8573	CASK	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2917	GRM7	ORPHA:1934
HP:0002814	Abnormality of the lower limb	51227	PIGP	ORPHA:1934
HP:0002814	Abnormality of the lower limb	4761	NEUROD2	ORPHA:1934
HP:0002814	Abnormality of the lower limb	158326	FREM1	ORPHA:217266
HP:0002814	Abnormality of the lower limb	55636	CHD7	OMIM:214800
HP:0002814	Abnormality of the lower limb	55636	CHD7	ORPHA:138
HP:0002814	Abnormality of the lower limb	9723	SEMA3E	ORPHA:138
HP:0002814	Abnormality of the lower limb	255758	DYNLT2B	OMIM:617405
HP:0002814	Abnormality of the lower limb	55835	CENPJ	OMIM:613676
HP:0002814	Abnormality of the lower limb	8516	ITGA8	ORPHA:1848
HP:0002814	Abnormality of the lower limb	26281	FGF20	ORPHA:1848
HP:0002814	Abnormality of the lower limb	2674	GFRA1	ORPHA:1848
HP:0002814	Abnormality of the lower limb	7484	WNT9B	ORPHA:1848
HP:0002814	Abnormality of the lower limb	80000	GREB1L	ORPHA:1848
HP:0002814	Abnormality of the lower limb	7528	YY1	ORPHA:506358
HP:0002814	Abnormality of the lower limb	51256	TBC1D7	OMIM:248000
HP:0002814	Abnormality of the lower limb	7337	UBE3A	ORPHA:98794
HP:0002814	Abnormality of the lower limb	148789	B3GALNT2	ORPHA:899
HP:0002814	Abnormality of the lower limb	1282	COL4A1	ORPHA:899
HP:0002814	Abnormality of the lower limb	10329	RXYLT1	ORPHA:899
HP:0002814	Abnormality of the lower limb	11041	B4GAT1	ORPHA:899
HP:0002814	Abnormality of the lower limb	57459	GATAD2B	OMIM:615074
HP:0002814	Abnormality of the lower limb	57459	GATAD2B	ORPHA:363686
HP:0002814	Abnormality of the lower limb	10265	IRX5	OMIM:611174
HP:0002814	Abnormality of the lower limb	51520	LARS1	OMIM:615438
HP:0002814	Abnormality of the lower limb	3313	HSPA9	OMIM:616854
HP:0002814	Abnormality of the lower limb	8643	PTCH2	ORPHA:377
HP:0002814	Abnormality of the lower limb	51684	SUFU	ORPHA:377
HP:0002814	Abnormality of the lower limb	5818	NECTIN1	OMIM:225060
HP:0002814	Abnormality of the lower limb	2254	FGF9	OMIM:612961
HP:0002814	Abnormality of the lower limb	5144	PDE4D	ORPHA:439822
HP:0002814	Abnormality of the lower limb	84342	COG8	OMIM:611182
HP:0002814	Abnormality of the lower limb	51506	UFC1	OMIM:618076
HP:0002814	Abnormality of the lower limb	7043	TGFB3	OMIM:615582
HP:0002814	Abnormality of the lower limb	5307	PITX1	OMIM:119800
HP:0002814	Abnormality of the lower limb	8243	SMC1A	OMIM:301044
HP:0002814	Abnormality of the lower limb	5290	PIK3CA	ORPHA:276280
HP:0002814	Abnormality of the lower limb	150468	CKAP2L	OMIM:272440
HP:0002814	Abnormality of the lower limb	57057	TBX20	ORPHA:99103
HP:0002814	Abnormality of the lower limb	10370	CITED2	ORPHA:99103
HP:0002814	Abnormality of the lower limb	213	ALB	ORPHA:86816
HP:0002814	Abnormality of the lower limb	7075	TIE1	OMIM:619401
HP:0002814	Abnormality of the lower limb	3662	IRF4	ORPHA:3452
HP:0002814	Abnormality of the lower limb	540	ATP7B	OMIM:277900
HP:0002814	Abnormality of the lower limb	84196	USP48	ORPHA:96253
HP:0002814	Abnormality of the lower limb	7157	TP53	ORPHA:96253
HP:0002814	Abnormality of the lower limb	64072	CDH23	ORPHA:96253
HP:0002814	Abnormality of the lower limb	2908	NR3C1	ORPHA:96253
HP:0002814	Abnormality of the lower limb	2050	EPHB4	ORPHA:90186
HP:0002814	Abnormality of the lower limb	4615	MYD88	ORPHA:33226
HP:0002814	Abnormality of the lower limb	440275	EIF2AK4	ORPHA:199241
HP:0002814	Abnormality of the lower limb	950	SCARB2	ORPHA:77259
HP:0002814	Abnormality of the lower limb	7424	VEGFC	OMIM:615907
HP:0002814	Abnormality of the lower limb	93587	TRMT10A	ORPHA:391408
HP:0002814	Abnormality of the lower limb	84919	PPP1R15B	ORPHA:391408
HP:0002814	Abnormality of the lower limb	4534	MTM1	OMIM:310400
HP:0002814	Abnormality of the lower limb	4953	ODC1	ORPHA:544488
HP:0002814	Abnormality of the lower limb	85465	SELENOI	ORPHA:506353
HP:0002814	Abnormality of the lower limb	85465	SELENOI	OMIM:618768
HP:0002814	Abnormality of the lower limb	4728	NDUFS8	OMIM:618222
HP:0002814	Abnormality of the lower limb	51604	PIGT	OMIM:615398
HP:0002814	Abnormality of the lower limb	22931	RAB18	OMIM:614222
HP:0002814	Abnormality of the lower limb	959	CD40LG	OMIM:308230
HP:0002814	Abnormality of the lower limb	2258	FGF13	OMIM:301058
HP:0002814	Abnormality of the lower limb	440193	CCDC88C	OMIM:616053
HP:0002814	Abnormality of the lower limb	10273	STUB1	OMIM:615768
HP:0002814	Abnormality of the lower limb	10273	STUB1	ORPHA:412057
HP:0002814	Abnormality of the lower limb	9409	PEX16	OMIM:614877
HP:0002814	Abnormality of the lower limb	9338	TCEAL1	OMIM:301094
HP:0002814	Abnormality of the lower limb	9289	ADGRG1	OMIM:606854
HP:0002814	Abnormality of the lower limb	1678	TIMM8A	ORPHA:52368
HP:0002814	Abnormality of the lower limb	6712	SPTBN2	OMIM:600224
HP:0002814	Abnormality of the lower limb	10749	KIF1C	OMIM:611302
HP:0002814	Abnormality of the lower limb	113278	SLC52A3	OMIM:211530
HP:0002814	Abnormality of the lower limb	1757	SARDH	ORPHA:3129
HP:0002814	Abnormality of the lower limb	2218	FKTN	OMIM:611588
HP:0002814	Abnormality of the lower limb	2992	GYG1	OMIM:616199
HP:0002814	Abnormality of the lower limb	65055	REEP1	OMIM:614751
HP:0002814	Abnormality of the lower limb	3032	HADHB	ORPHA:746
HP:0002814	Abnormality of the lower limb	3030	HADHA	ORPHA:746
HP:0002814	Abnormality of the lower limb	1778	DYNC1H1	OMIM:158600
HP:0002814	Abnormality of the lower limb	6926	TBX3	OMIM:181450
HP:0002814	Abnormality of the lower limb	118924	FRA10AC1	OMIM:620113
HP:0002814	Abnormality of the lower limb	9373	PLAA	ORPHA:521426
HP:0002814	Abnormality of the lower limb	7051	TGM1	ORPHA:281127
HP:0002814	Abnormality of the lower limb	11342	RNF13	ORPHA:544503
HP:0002814	Abnormality of the lower limb	9326	ZNHIT3	OMIM:260565
HP:0002814	Abnormality of the lower limb	1301	COL11A1	OMIM:154780
HP:0002814	Abnormality of the lower limb	388015	RTL1	ORPHA:96334
HP:0002814	Abnormality of the lower limb	8788	DLK1	ORPHA:96334
HP:0002814	Abnormality of the lower limb	55384	MEG3	ORPHA:96334
HP:0002814	Abnormality of the lower limb	26128	KIFBP	OMIM:609460
HP:0002814	Abnormality of the lower limb	8567	MADD	OMIM:619005
HP:0002814	Abnormality of the lower limb	84340	GFM2	ORPHA:565624
HP:0002814	Abnormality of the lower limb	9365	KL	OMIM:617994
HP:0002814	Abnormality of the lower limb	57187	THOC2	OMIM:300957
HP:0002814	Abnormality of the lower limb	51608	GET4	OMIM:620200
HP:0002814	Abnormality of the lower limb	28962	OSTM1	OMIM:259720
HP:0002814	Abnormality of the lower limb	27125	AFF4	ORPHA:444077
HP:0002814	Abnormality of the lower limb	84823	LMNB2	OMIM:619180
HP:0002814	Abnormality of the lower limb	51112	TRAPPC12	ORPHA:500144
HP:0002814	Abnormality of the lower limb	29998	BICRA	OMIM:619325
HP:0002814	Abnormality of the lower limb	375056	MIA3	OMIM:619269
HP:0002814	Abnormality of the lower limb	3417	IDH1	ORPHA:99646
HP:0002814	Abnormality of the lower limb	60676	PAPPA2	OMIM:619489
HP:0002814	Abnormality of the lower limb	10651	MTX2	OMIM:619127
HP:0002814	Abnormality of the lower limb	64132	XYLT2	OMIM:605822
HP:0002814	Abnormality of the lower limb	23299	BICD2	OMIM:618291
HP:0002814	Abnormality of the lower limb	10312	TCIRG1	OMIM:259700
HP:0002814	Abnormality of the lower limb	8792	TNFRSF11A	OMIM:612301
HP:0002814	Abnormality of the lower limb	221496	LEMD2	OMIM:619322
HP:0002814	Abnormality of the lower limb	79718	TBL1XR1	OMIM:602342
HP:0002814	Abnormality of the lower limb	55764	IFT122	OMIM:218330
HP:0002814	Abnormality of the lower limb	773	CACNA1A	ORPHA:2131
HP:0002814	Abnormality of the lower limb	6507	SLC1A3	ORPHA:2131
HP:0002814	Abnormality of the lower limb	477	ATP1A2	ORPHA:2131
HP:0002814	Abnormality of the lower limb	478	ATP1A3	ORPHA:2131
HP:0002814	Abnormality of the lower limb	10625	IVNS1ABP	OMIM:618969
HP:0002814	Abnormality of the lower limb	920	CD4	OMIM:619238
HP:0002814	Abnormality of the lower limb	2019	EN1	OMIM:619218
HP:0002814	Abnormality of the lower limb	25923	ATL3	OMIM:615632
HP:0002814	Abnormality of the lower limb	6597	SMARCA4	OMIM:614609
HP:0002814	Abnormality of the lower limb	3782	KCNN3	OMIM:618658
HP:0002814	Abnormality of the lower limb	57492	ARID1B	OMIM:135900
HP:0002814	Abnormality of the lower limb	5921	RASA1	ORPHA:90307
HP:0002814	Abnormality of the lower limb	7994	KAT6A	OMIM:616268
HP:0002814	Abnormality of the lower limb	55109	AGGF1	ORPHA:90308
HP:0002814	Abnormality of the lower limb	5590	PRKCZ	ORPHA:1606
HP:0002814	Abnormality of the lower limb	23013	SPEN	ORPHA:1606
HP:0002814	Abnormality of the lower limb	8510	MMP23B	ORPHA:1606
HP:0002814	Abnormality of the lower limb	7798	LUZP1	ORPHA:1606
HP:0002814	Abnormality of the lower limb	6497	SKI	ORPHA:1606
HP:0002814	Abnormality of the lower limb	10630	PDPN	ORPHA:1606
HP:0002814	Abnormality of the lower limb	10277	UBE4B	ORPHA:1606
HP:0002814	Abnormality of the lower limb	8514	KCNAB2	ORPHA:1606
HP:0002814	Abnormality of the lower limb	473	RERE	ORPHA:1606
HP:0002814	Abnormality of the lower limb	63976	PRDM16	ORPHA:1606
HP:0002814	Abnormality of the lower limb	54897	CASZ1	ORPHA:1606
HP:0002814	Abnormality of the lower limb	2776	GNAQ	ORPHA:624
HP:0002814	Abnormality of the lower limb	5728	PTEN	ORPHA:744
HP:0002814	Abnormality of the lower limb	5728	PTEN	ORPHA:2969
HP:0002814	Abnormality of the lower limb	5728	PTEN	ORPHA:137608
HP:0002814	Abnormality of the lower limb	207	AKT1	ORPHA:744
HP:0002814	Abnormality of the lower limb	1513	CTSK	ORPHA:763
HP:0002814	Abnormality of the lower limb	2887	GRB10	ORPHA:96182
HP:0002814	Abnormality of the lower limb	3481	IGF2	ORPHA:231140
HP:0002814	Abnormality of the lower limb	283120	H19	ORPHA:231140
HP:0002814	Abnormality of the lower limb	3845	KRAS	OMIM:600268
HP:0002814	Abnormality of the lower limb	5594	MAPK1	OMIM:619087
HP:0002814	Abnormality of the lower limb	3110	MNX1	ORPHA:1552
HP:0002814	Abnormality of the lower limb	203068	TUBB	ORPHA:2505
HP:0002814	Abnormality of the lower limb	23592	LEMD3	OMIM:166700
HP:0002814	Abnormality of the lower limb	6595	SMARCA2	ORPHA:3051
HP:0002814	Abnormality of the lower limb	3248	HPGD	ORPHA:217059
HP:0002814	Abnormality of the lower limb	3248	HPGD	ORPHA:2796
HP:0002814	Abnormality of the lower limb	3248	HPGD	ORPHA:1525
HP:0002814	Abnormality of the lower limb	79651	RHBDF2	ORPHA:2198
HP:0002814	Abnormality of the lower limb	9487	PIGL	ORPHA:3474
HP:0002814	Abnormality of the lower limb	672	BRCA1	ORPHA:84
HP:0002814	Abnormality of the lower limb	10459	MAD2L2	ORPHA:84
HP:0002814	Abnormality of the lower limb	7516	XRCC2	ORPHA:84
HP:0002814	Abnormality of the lower limb	29089	UBE2T	ORPHA:84
HP:0002814	Abnormality of the lower limb	675	BRCA2	ORPHA:84
HP:0002814	Abnormality of the lower limb	55120	FANCL	ORPHA:84
HP:0002814	Abnormality of the lower limb	2177	FANCD2	ORPHA:84
HP:0002814	Abnormality of the lower limb	2175	FANCA	ORPHA:84
HP:0002814	Abnormality of the lower limb	2187	FANCB	ORPHA:84
HP:0002814	Abnormality of the lower limb	2176	FANCC	ORPHA:84
HP:0002814	Abnormality of the lower limb	2178	FANCE	ORPHA:84
HP:0002814	Abnormality of the lower limb	2188	FANCF	ORPHA:84
HP:0002814	Abnormality of the lower limb	2189	FANCG	ORPHA:84
HP:0002814	Abnormality of the lower limb	5888	RAD51	ORPHA:84
HP:0002814	Abnormality of the lower limb	5889	RAD51C	ORPHA:84
HP:0002814	Abnormality of the lower limb	55159	RFWD3	ORPHA:84
HP:0002814	Abnormality of the lower limb	83990	BRIP1	ORPHA:84
HP:0002814	Abnormality of the lower limb	57697	FANCM	ORPHA:84
HP:0002814	Abnormality of the lower limb	79728	PALB2	ORPHA:84
HP:0002814	Abnormality of the lower limb	84464	SLX4	ORPHA:84
HP:0002814	Abnormality of the lower limb	2072	ERCC4	ORPHA:84
HP:0002814	Abnormality of the lower limb	55215	FANCI	ORPHA:84
HP:0002814	Abnormality of the lower limb	6578	SLCO2A1	ORPHA:2796
HP:0002814	Abnormality of the lower limb	7092	TLL1	ORPHA:99106
HP:0002814	Abnormality of the lower limb	8720	MBTPS1	OMIM:618392
HP:0002814	Abnormality of the lower limb	54345	SOX18	ORPHA:69735
HP:0002814	Abnormality of the lower limb	8291	DYSF	OMIM:254130
HP:0002814	Abnormality of the lower limb	8291	DYSF	ORPHA:45448
HP:0002814	Abnormality of the lower limb	5238	PGM3	ORPHA:443811
HP:0002814	Abnormality of the lower limb	4747	NEFL	ORPHA:99939
HP:0002814	Abnormality of the lower limb	2705	GJB1	ORPHA:1175
HP:0002815	Abnormality of the knee	6335	SCN9A	ORPHA:970
HP:0002815	Abnormality of the knee	65125	WNK1	ORPHA:970
HP:0002815	Abnormality of the knee	54463	RETREG1	ORPHA:970
HP:0002815	Abnormality of the knee	547	KIF1A	ORPHA:970
HP:0002815	Abnormality of the knee	5167	ENPP1	ORPHA:51608
HP:0002815	Abnormality of the knee	368	ABCC6	ORPHA:51608
HP:0002815	Abnormality of the knee	89970	RSPRY1	ORPHA:457395
HP:0002815	Abnormality of the knee	3852	KRT5	ORPHA:158681
HP:0002815	Abnormality of the knee	4010	LMX1B	ORPHA:2614
HP:0002815	Abnormality of the knee	23314	SATB2	ORPHA:251028
HP:0002815	Abnormality of the knee	3248	HPGD	ORPHA:1525
HP:0002815	Abnormality of the knee	9496	TBX4	ORPHA:1509
HP:0002815	Abnormality of the knee	4210	MEFV	ORPHA:329967
HP:0002815	Abnormality of the knee	7132	TNFRSF1A	ORPHA:329967
HP:0002815	Abnormality of the knee	1294	COL7A1	ORPHA:158673
HP:0002815	Abnormality of the knee	8838	CCN6	ORPHA:1159
HP:0002815	Abnormality of the knee	1297	COL9A1	OMIM:614135
HP:0002815	Abnormality of the knee	1297	COL9A1	ORPHA:166002
HP:0002815	Abnormality of the knee	8292	COLQ	ORPHA:98915
HP:0002815	Abnormality of the knee	3913	LAMB2	ORPHA:98915
HP:0002815	Abnormality of the knee	23204	ARL6IP1	ORPHA:401780
HP:0002815	Abnormality of the knee	1298	COL9A2	ORPHA:166002
HP:0002815	Abnormality of the knee	1299	COL9A3	ORPHA:166002
HP:0002815	Abnormality of the knee	10717	AP4B1	ORPHA:280763
HP:0002815	Abnormality of the knee	10717	AP4B1	OMIM:614066
HP:0002815	Abnormality of the knee	9179	AP4M1	ORPHA:280763
HP:0002815	Abnormality of the knee	11154	AP4S1	ORPHA:280763
HP:0002815	Abnormality of the knee	23431	AP4E1	ORPHA:280763
HP:0002815	Abnormality of the knee	6497	SKI	OMIM:182212
HP:0002815	Abnormality of the knee	11285	B4GALT7	OMIM:130070
HP:0002815	Abnormality of the knee	4123	MAN2C1	OMIM:619775
HP:0002815	Abnormality of the knee	2200	FBN1	OMIM:154700
HP:0002815	Abnormality of the knee	2892	GRIA3	ORPHA:364028
HP:0002815	Abnormality of the knee	4998	ORC1	OMIM:224690
HP:0002815	Abnormality of the knee	1278	COL1A2	OMIM:225320
HP:0002815	Abnormality of the knee	1278	COL1A2	ORPHA:230851
HP:0002815	Abnormality of the knee	3265	HRAS	ORPHA:2612
HP:0002815	Abnormality of the knee	3845	KRAS	ORPHA:2612
HP:0002815	Abnormality of the knee	4893	NRAS	ORPHA:2612
HP:0002815	Abnormality of the knee	9469	CHST3	OMIM:143095
HP:0002815	Abnormality of the knee	57479	PRR12	OMIM:619539
HP:0002815	Abnormality of the knee	2006	ELN	ORPHA:90348
HP:0002815	Abnormality of the knee	10516	FBLN5	ORPHA:90348
HP:0002815	Abnormality of the knee	5832	ALDH18A1	ORPHA:90348
HP:0002815	Abnormality of the knee	285590	SH3PXD2B	ORPHA:137834
HP:0002815	Abnormality of the knee	1073	CFL2	OMIM:610687
HP:0002815	Abnormality of the knee	8936	WASF1	OMIM:618707
HP:0002815	Abnormality of the knee	64131	XYLT1	ORPHA:1425
HP:0002815	Abnormality of the knee	124583	CANT1	ORPHA:1425
HP:0002815	Abnormality of the knee	55790	CSGALNACT1	ORPHA:1425
HP:0002815	Abnormality of the knee	9150	CTDP1	OMIM:604168
HP:0002815	Abnormality of the knee	9321	TRIP11	OMIM:184260
HP:0002815	Abnormality of the knee	6536	SLC6A9	OMIM:617301
HP:0002815	Abnormality of the knee	5728	PTEN	ORPHA:2969
HP:0002815	Abnormality of the knee	2245	FGD1	ORPHA:915
HP:0002815	Abnormality of the knee	81620	CDT1	OMIM:613804
HP:0002815	Abnormality of the knee	57192	MCOLN1	ORPHA:578
HP:0002815	Abnormality of the knee	203859	ANO5	ORPHA:206549
HP:0002815	Abnormality of the knee	1497	CTNS	OMIM:219800
HP:0002815	Abnormality of the knee	875	CBS	ORPHA:394
HP:0002815	Abnormality of the knee	7421	VDR	ORPHA:93160
HP:0002815	Abnormality of the knee	51256	TBC1D7	OMIM:248000
HP:0002815	Abnormality of the knee	2972	BRF1	OMIM:616202
HP:0002815	Abnormality of the knee	7360	UGP2	OMIM:618744
HP:0002815	Abnormality of the knee	10992	SF3B2	OMIM:164210
HP:0002815	Abnormality of the knee	538	ATP7A	OMIM:304150
HP:0002815	Abnormality of the knee	538	ATP7A	ORPHA:198
HP:0002815	Abnormality of the knee	4125	MAN2B1	ORPHA:309282
HP:0002815	Abnormality of the knee	58	ACTA1	ORPHA:171436
HP:0002815	Abnormality of the knee	7169	TPM2	ORPHA:171436
HP:0002815	Abnormality of the knee	4703	NEB	ORPHA:171436
HP:0002815	Abnormality of the knee	10324	KLHL41	ORPHA:171436
HP:0002815	Abnormality of the knee	56203	LMOD3	ORPHA:171436
HP:0002815	Abnormality of the knee	3021	H3-3B	OMIM:619721
HP:0002815	Abnormality of the knee	23322	RPGRIP1L	OMIM:611560
HP:0002815	Abnormality of the knee	176	ACAN	OMIM:608361
HP:0002815	Abnormality of the knee	84572	GNPTG	OMIM:252605
HP:0002815	Abnormality of the knee	64324	NSD1	OMIM:117550
HP:0002815	Abnormality of the knee	7040	TGFB1	OMIM:131300
HP:0002815	Abnormality of the knee	7040	TGFB1	ORPHA:1328
HP:0002815	Abnormality of the knee	54880	BCOR	ORPHA:2712
HP:0002815	Abnormality of the knee	815	CAMK2A	OMIM:617798
HP:0002815	Abnormality of the knee	10381	TUBB3	ORPHA:300570
HP:0002815	Abnormality of the knee	55699	IARS2	ORPHA:436174
HP:0002815	Abnormality of the knee	55699	IARS2	OMIM:616007
HP:0002815	Abnormality of the knee	83480	PUS3	ORPHA:488627
HP:0002815	Abnormality of the knee	157680	VPS13B	OMIM:216550
HP:0002815	Abnormality of the knee	157680	VPS13B	ORPHA:193
HP:0002815	Abnormality of the knee	5566	PRKACA	ORPHA:289
HP:0002815	Abnormality of the knee	5566	PRKACA	OMIM:619142
HP:0002815	Abnormality of the knee	5567	PRKACB	ORPHA:289
HP:0002815	Abnormality of the knee	5567	PRKACB	OMIM:619143
HP:0002815	Abnormality of the knee	2735	GLI1	ORPHA:289
HP:0002815	Abnormality of the knee	2735	GLI1	OMIM:618123
HP:0002815	Abnormality of the knee	2121	EVC	ORPHA:289
HP:0002815	Abnormality of the knee	2121	EVC	OMIM:225500
HP:0002815	Abnormality of the knee	51626	DYNC2LI1	ORPHA:289
HP:0002815	Abnormality of the knee	132884	EVC2	ORPHA:289
HP:0002815	Abnormality of the knee	132884	EVC2	OMIM:225500
HP:0002815	Abnormality of the knee	9839	ZEB2	ORPHA:261552
HP:0002815	Abnormality of the knee	9839	ZEB2	ORPHA:261537
HP:0002815	Abnormality of the knee	4763	NF1	ORPHA:363700
HP:0002815	Abnormality of the knee	4763	NF1	OMIM:162200
HP:0002815	Abnormality of the knee	2720	GLB1	OMIM:253010
HP:0002815	Abnormality of the knee	3425	IDUA	OMIM:607016
HP:0002815	Abnormality of the knee	374654	KIF7	OMIM:607131
HP:0002815	Abnormality of the knee	374654	KIF7	ORPHA:166024
HP:0002815	Abnormality of the knee	5376	PMP22	ORPHA:3115
HP:0002815	Abnormality of the knee	4359	MPZ	ORPHA:3115
HP:0002815	Abnormality of the knee	1588	CYP19A1	ORPHA:91
HP:0002815	Abnormality of the knee	9653	HS2ST1	OMIM:619194
HP:0002815	Abnormality of the knee	5251	PHEX	ORPHA:89936
HP:0002815	Abnormality of the knee	5251	PHEX	OMIM:307800
HP:0002815	Abnormality of the knee	3043	HBB	ORPHA:231214
HP:0002815	Abnormality of the knee	3043	HBB	ORPHA:231226
HP:0002815	Abnormality of the knee	5593	PRKG2	OMIM:619636
HP:0002815	Abnormality of the knee	55027	HEATR3	OMIM:620072
HP:0002815	Abnormality of the knee	26137	ZBTB20	OMIM:259050
HP:0002815	Abnormality of the knee	6473	SHOX	ORPHA:314795
HP:0002815	Abnormality of the knee	6473	SHOX	ORPHA:240
HP:0002815	Abnormality of the knee	7030	TFE3	OMIM:301066
HP:0002815	Abnormality of the knee	23162	MAPK8IP3	OMIM:618443
HP:0002815	Abnormality of the knee	9394	HS6ST1	OMIM:614880
HP:0002815	Abnormality of the knee	23483	TGDS	OMIM:616145
HP:0002815	Abnormality of the knee	3977	LIFR	ORPHA:3206
HP:0002815	Abnormality of the knee	546	ATRX	OMIM:309580
HP:0002815	Abnormality of the knee	7994	KAT6A	OMIM:616268
HP:0002815	Abnormality of the knee	3339	HSPG2	ORPHA:800
HP:0002815	Abnormality of the knee	1186	CLCN7	ORPHA:53
HP:0002815	Abnormality of the knee	1301	COL11A1	ORPHA:250984
HP:0002815	Abnormality of the knee	1301	COL11A1	ORPHA:560
HP:0002815	Abnormality of the knee	84695	LOXL3	ORPHA:250984
HP:0002815	Abnormality of the knee	55081	IFT57	OMIM:617927
HP:0002815	Abnormality of the knee	865	CBFB	OMIM:620099
HP:0002815	Abnormality of the knee	54808	DYM	ORPHA:239
HP:0002815	Abnormality of the knee	54808	DYM	OMIM:607326
HP:0002815	Abnormality of the knee	54808	DYM	OMIM:223800
HP:0002815	Abnormality of the knee	8600	TNFSF11	OMIM:259710
HP:0002815	Abnormality of the knee	9361	LONP1	OMIM:600373
HP:0002815	Abnormality of the knee	10466	COG5	ORPHA:263487
HP:0002815	Abnormality of the knee	579	NKX3-2	OMIM:613330
HP:0002815	Abnormality of the knee	26160	IFT172	OMIM:615630
HP:0002815	Abnormality of the knee	2335	FN1	ORPHA:93315
HP:0002815	Abnormality of the knee	23394	ADNP	OMIM:615873
HP:0002815	Abnormality of the knee	7681	MKRN3	OMIM:176270
HP:0002815	Abnormality of the knee	3653	IPW	OMIM:176270
HP:0002815	Abnormality of the knee	54551	MAGEL2	OMIM:176270
HP:0002815	Abnormality of the knee	791114	PWRN1	OMIM:176270
HP:0002815	Abnormality of the knee	100033413	SNORD116-1	OMIM:176270
HP:0002815	Abnormality of the knee	8924	HERC2	OMIM:176270
HP:0002815	Abnormality of the knee	145624	PWAR1	OMIM:176270
HP:0002815	Abnormality of the knee	23742	NPAP1	OMIM:176270
HP:0002815	Abnormality of the knee	338433	SNORD115-1	OMIM:176270
HP:0002815	Abnormality of the knee	4148	MATN3	ORPHA:93311
HP:0002815	Abnormality of the knee	4148	MATN3	OMIM:607078
HP:0002815	Abnormality of the knee	411	ARSB	OMIM:253200
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:156530
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:168400
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:184095
HP:0002815	Abnormality of the knee	8882	ZPR1	OMIM:619321
HP:0002815	Abnormality of the knee	137682	NDUFAF6	OMIM:618913
HP:0002815	Abnormality of the knee	55784	MCTP2	ORPHA:1596
HP:0002815	Abnormality of the knee	64135	IFIH1	OMIM:182250
HP:0002815	Abnormality of the knee	153642	ARSK	OMIM:619698
HP:0002815	Abnormality of the knee	84068	SLC10A7	OMIM:618363
HP:0002815	Abnormality of the knee	5604	MAP2K1	ORPHA:1340
HP:0002815	Abnormality of the knee	5605	MAP2K2	ORPHA:1340
HP:0002815	Abnormality of the knee	673	BRAF	ORPHA:1340
HP:0002815	Abnormality of the knee	23111	SPART	ORPHA:101000
HP:0002815	Abnormality of the knee	9451	EIF2AK3	OMIM:226980
HP:0002815	Abnormality of the knee	54681	P4HTM	OMIM:618493
HP:0002815	Abnormality of the knee	860	RUNX2	ORPHA:1452
HP:0002815	Abnormality of the knee	3930	LBR	OMIM:618019
HP:0002815	Abnormality of the knee	1954	MEGF8	ORPHA:65759
HP:0002815	Abnormality of the knee	1300	COL10A1	OMIM:156500
HP:0002815	Abnormality of the knee	6424	SFRP4	OMIM:265900
HP:0002815	Abnormality of the knee	10526	IPO8	OMIM:619472
HP:0002815	Abnormality of the knee	6711	SPTBN1	OMIM:619475
HP:0002815	Abnormality of the knee	2588	GALNS	OMIM:253000
HP:0002815	Abnormality of the knee	80152	CENPT	OMIM:618702
HP:0002815	Abnormality of the knee	4796	TONSL	ORPHA:93357
HP:0002815	Abnormality of the knee	4796	TONSL	OMIM:271510
HP:0002815	Abnormality of the knee	5184	PEPD	ORPHA:742
HP:0002815	Abnormality of the knee	7227	TRPS1	ORPHA:502
HP:0002815	Abnormality of the knee	374879	ZNF699	OMIM:619488
HP:0002815	Abnormality of the knee	10651	MTX2	OMIM:619127
HP:0002815	Abnormality of the knee	4322	MMP13	OMIM:250400
HP:0002815	Abnormality of the knee	126792	B3GALT6	OMIM:271640
HP:0002815	Abnormality of the knee	2990	GUSB	OMIM:253220
HP:0002815	Abnormality of the knee	8139	GAN	ORPHA:643
HP:0002815	Abnormality of the knee	26229	B3GAT3	OMIM:245600
HP:0002815	Abnormality of the knee	83452	RAB33B	OMIM:615222
HP:0002815	Abnormality of the knee	80169	CTC1	OMIM:612199
HP:0002815	Abnormality of the knee	25871	NEPRO	OMIM:618853
HP:0002815	Abnormality of the knee	871	SERPINH1	OMIM:613848
HP:0002815	Abnormality of the knee	1576	CYP3A4	OMIM:619073
HP:0002815	Abnormality of the knee	65992	DDRGK1	OMIM:602557
HP:0002815	Abnormality of the knee	65992	DDRGK1	ORPHA:93352
HP:0002815	Abnormality of the knee	1594	CYP27B1	ORPHA:289157
HP:0002815	Abnormality of the knee	120227	CYP2R1	ORPHA:289157
HP:0002815	Abnormality of the knee	55325	UFSP2	OMIM:617974
HP:0002815	Abnormality of the knee	11128	POLR3A	OMIM:264090
HP:0002815	Abnormality of the knee	2261	FGFR3	ORPHA:429
HP:0002815	Abnormality of the knee	2261	FGFR3	OMIM:146000
HP:0002815	Abnormality of the knee	2261	FGFR3	OMIM:100800
HP:0002815	Abnormality of the knee	79631	EFL1	OMIM:617941
HP:0002815	Abnormality of the knee	3417	IDH1	ORPHA:99646
HP:0002815	Abnormality of the knee	284403	WDR62	OMIM:604317
HP:0002815	Abnormality of the knee	4318	MMP9	OMIM:613073
HP:0002815	Abnormality of the knee	3549	IHH	ORPHA:63446
HP:0002815	Abnormality of the knee	3549	IHH	OMIM:607778
HP:0002815	Abnormality of the knee	1758	DMP1	ORPHA:289176
HP:0002815	Abnormality of the knee	4052	LTBP1	OMIM:619451
HP:0002815	Abnormality of the knee	6137	RPL13	OMIM:618728
HP:0002815	Abnormality of the knee	6578	SLCO2A1	ORPHA:2796
HP:0002815	Abnormality of the knee	26123	TCTN3	ORPHA:2753
HP:0002815	Abnormality of the knee	633	BGN	OMIM:300106
HP:0002815	Abnormality of the knee	5442	POLRMT	OMIM:619743
HP:0002815	Abnormality of the knee	6023	RMRP	OMIM:250460
HP:0002815	Abnormality of the knee	64682	ANAPC1	ORPHA:221008
HP:0002815	Abnormality of the knee	375	ARF1	ORPHA:98892
HP:0002815	Abnormality of the knee	4131	MAP1B	ORPHA:98892
HP:0002815	Abnormality of the knee	23327	NEDD4L	ORPHA:98892
HP:0002815	Abnormality of the knee	160418	TMTC3	ORPHA:98892
HP:0002815	Abnormality of the knee	10564	ARFGEF2	ORPHA:98892
HP:0002815	Abnormality of the knee	55780	ERMARD	ORPHA:98892
HP:0002815	Abnormality of the knee	50515	CHST11	OMIM:618167
HP:0002815	Abnormality of the knee	1387	CREBBP	OMIM:180849
HP:0002815	Abnormality of the knee	1387	CREBBP	ORPHA:353277
HP:0002815	Abnormality of the knee	1387	CREBBP	ORPHA:353281
HP:0002815	Abnormality of the knee	2033	EP300	OMIM:180849
HP:0002815	Abnormality of the knee	2033	EP300	ORPHA:353284
HP:0002815	Abnormality of the knee	23522	KAT6B	OMIM:606170
HP:0002815	Abnormality of the knee	23522	KAT6B	OMIM:603736
HP:0002815	Abnormality of the knee	7528	YY1	OMIM:617557
HP:0002815	Abnormality of the knee	91461	PKDCC	OMIM:618821
HP:0002815	Abnormality of the knee	6804	STX1A	ORPHA:904
HP:0002815	Abnormality of the knee	7461	CLIP2	ORPHA:904
HP:0002815	Abnormality of the knee	84277	DNAJC30	ORPHA:904
HP:0002815	Abnormality of the knee	8468	FKBP6	ORPHA:904
HP:0002815	Abnormality of the knee	5982	RFC2	ORPHA:904
HP:0002815	Abnormality of the knee	2969	GTF2I	ORPHA:904
HP:0002815	Abnormality of the knee	3984	LIMK1	ORPHA:904
HP:0002815	Abnormality of the knee	9569	GTF2IRD1	ORPHA:904
HP:0002815	Abnormality of the knee	155382	VPS37D	ORPHA:904
HP:0002815	Abnormality of the knee	155368	METTL27	ORPHA:904
HP:0002815	Abnormality of the knee	114049	BUD23	ORPHA:904
HP:0002815	Abnormality of the knee	7458	EIF4H	ORPHA:904
HP:0002815	Abnormality of the knee	84163	GTF2IRD2	ORPHA:904
HP:0002815	Abnormality of the knee	9275	BCL7B	ORPHA:904
HP:0002815	Abnormality of the knee	26608	TBL2	ORPHA:904
HP:0002815	Abnormality of the knee	653361	NCF1	ORPHA:904
HP:0002815	Abnormality of the knee	135886	TMEM270	ORPHA:904
HP:0002815	Abnormality of the knee	51085	MLXIPL	ORPHA:904
HP:0002815	Abnormality of the knee	9031	BAZ1B	ORPHA:904
HP:0002815	Abnormality of the knee	9939	RBM8A	ORPHA:3320
HP:0002815	Abnormality of the knee	9939	RBM8A	OMIM:274000
HP:0002815	Abnormality of the knee	100151683	RNU4ATAC	ORPHA:1824
HP:0002815	Abnormality of the knee	8200	GDF5	ORPHA:968
HP:0002815	Abnormality of the knee	8200	GDF5	OMIM:228900
HP:0002815	Abnormality of the knee	5351	PLOD1	ORPHA:1900
HP:0002815	Abnormality of the knee	1312	COMT	ORPHA:567
HP:0002815	Abnormality of the knee	221037	JMJD1C	ORPHA:567
HP:0002815	Abnormality of the knee	2812	GP1BB	ORPHA:567
HP:0002815	Abnormality of the knee	6239	RREB1	ORPHA:567
HP:0002815	Abnormality of the knee	6899	TBX1	ORPHA:567
HP:0002815	Abnormality of the knee	6899	TBX1	OMIM:188400
HP:0002815	Abnormality of the knee	7290	HIRA	ORPHA:567
HP:0002815	Abnormality of the knee	9632	SEC24C	ORPHA:567
HP:0002815	Abnormality of the knee	7353	UFD1	ORPHA:567
HP:0002815	Abnormality of the knee	421	ARVCF	ORPHA:567
HP:0002815	Abnormality of the knee	2317	FLNB	ORPHA:56305
HP:0002815	Abnormality of the knee	10682	EBP	OMIM:302960
HP:0002815	Abnormality of the knee	10682	EBP	ORPHA:35173
HP:0002815	Abnormality of the knee	1290	COL5A2	ORPHA:287
HP:0002815	Abnormality of the knee	54928	BPNT2	OMIM:614078
HP:0002815	Abnormality of the knee	23233	EXOC6B	OMIM:618395
HP:0002815	Abnormality of the knee	2535	FZD2	ORPHA:93328
HP:0002815	Abnormality of the knee	6812	STXBP1	ORPHA:495818
HP:0002815	Abnormality of the knee	2201	FBN2	OMIM:121050
HP:0002815	Abnormality of the knee	4853	NOTCH2	ORPHA:955
HP:0002815	Abnormality of the knee	4952	OCRL	ORPHA:534
HP:0002815	Abnormality of the knee	10804	GJB6	ORPHA:477
HP:0002815	Abnormality of the knee	2706	GJB2	ORPHA:477
HP:0002815	Abnormality of the knee	57688	ZSWIM6	ORPHA:1827
HP:0002815	Abnormality of the knee	57688	ZSWIM6	OMIM:603671
HP:0002815	Abnormality of the knee	5307	PITX1	OMIM:119800
HP:0002815	Abnormality of the knee	55148	UBR7	OMIM:619189
HP:0002815	Abnormality of the knee	29980	DONSON	OMIM:617604
HP:0002815	Abnormality of the knee	6662	SOX9	OMIM:114290
HP:0002815	Abnormality of the knee	54496	PRMT7	ORPHA:464288
HP:0002815	Abnormality of the knee	56896	DPYSL5	OMIM:619435
HP:0002815	Abnormality of the knee	10082	GPC6	OMIM:258315
HP:0002815	Abnormality of the knee	2146	EZH2	OMIM:277590
HP:0002815	Abnormality of the knee	6326	SCN2A	ORPHA:33069
HP:0002815	Abnormality of the knee	6326	SCN2A	ORPHA:36387
HP:0002815	Abnormality of the knee	2554	GABRA1	ORPHA:33069
HP:0002815	Abnormality of the knee	6323	SCN1A	ORPHA:33069
HP:0002815	Abnormality of the knee	6323	SCN1A	ORPHA:36387
HP:0002815	Abnormality of the knee	6324	SCN1B	ORPHA:33069
HP:0002815	Abnormality of the knee	6324	SCN1B	ORPHA:36387
HP:0002815	Abnormality of the knee	57526	PCDH19	ORPHA:33069
HP:0002815	Abnormality of the knee	2566	GABRG2	ORPHA:33069
HP:0002815	Abnormality of the knee	2566	GABRG2	ORPHA:36387
HP:0002815	Abnormality of the knee	112755	STX1B	ORPHA:36387
HP:0002815	Abnormality of the knee	2563	GABRD	ORPHA:36387
HP:0002815	Abnormality of the knee	348980	HCN1	ORPHA:36387
HP:0002815	Abnormality of the knee	84059	ADGRV1	ORPHA:36387
HP:0002815	Abnormality of the knee	3187	HNRNPH1	OMIM:620083
HP:0002815	Abnormality of the knee	6261	RYR1	ORPHA:178145
HP:0002815	Abnormality of the knee	79989	IFT56	OMIM:619534
HP:0002815	Abnormality of the knee	165	AEBP1	OMIM:618000
HP:0002815	Abnormality of the knee	165	AEBP1	ORPHA:536532
HP:0002815	Abnormality of the knee	23443	SLC35A3	OMIM:615553
HP:0002815	Abnormality of the knee	23443	SLC35A3	ORPHA:370943
HP:0002815	Abnormality of the knee	347734	SLC35B2	OMIM:620269
HP:0002815	Abnormality of the knee	10586	MAB21L2	OMIM:615877
HP:0002815	Abnormality of the knee	63895	PIEZO2	OMIM:108145
HP:0002815	Abnormality of the knee	9499	MYOT	ORPHA:266
HP:0002815	Abnormality of the knee	8291	DYSF	ORPHA:268
HP:0002815	Abnormality of the knee	4088	SMAD3	ORPHA:284984
HP:0002815	Abnormality of the knee	4088	SMAD3	OMIM:613795
HP:0002815	Abnormality of the knee	6399	TRAPPC2	ORPHA:93284
HP:0002815	Abnormality of the knee	6775	STAT4	ORPHA:85408
HP:0002815	Abnormality of the knee	6775	STAT4	ORPHA:85410
HP:0002815	Abnormality of the knee	3560	IL2RB	ORPHA:85408
HP:0002815	Abnormality of the knee	3560	IL2RB	ORPHA:85410
HP:0002815	Abnormality of the knee	79722	ANKRD55	ORPHA:85408
HP:0002815	Abnormality of the knee	79722	ANKRD55	ORPHA:85410
HP:0002815	Abnormality of the knee	26191	PTPN22	ORPHA:85408
HP:0002815	Abnormality of the knee	26191	PTPN22	ORPHA:85410
HP:0002815	Abnormality of the knee	919	CD247	ORPHA:85408
HP:0002815	Abnormality of the knee	919	CD247	ORPHA:85410
HP:0002815	Abnormality of the knee	3559	IL2RA	ORPHA:85408
HP:0002815	Abnormality of the knee	3559	IL2RA	ORPHA:85410
HP:0002815	Abnormality of the knee	5771	PTPN2	ORPHA:85408
HP:0002815	Abnormality of the knee	5771	PTPN2	ORPHA:85410
HP:0002815	Abnormality of the knee	4087	SMAD2	OMIM:619656
HP:0002815	Abnormality of the knee	10216	PRG4	ORPHA:2848
HP:0002815	Abnormality of the knee	1277	COL1A1	OMIM:130060
HP:0002815	Abnormality of the knee	23345	SYNE1	ORPHA:319332
HP:0002815	Abnormality of the knee	11160	ERLIN2	ORPHA:280384
HP:0002815	Abnormality of the knee	11160	ERLIN2	ORPHA:209951
HP:0002815	Abnormality of the knee	4921	DDR2	OMIM:271665
HP:0002815	Abnormality of the knee	23141	ANKLE2	OMIM:616681
HP:0002815	Abnormality of the knee	8506	CNTNAP1	OMIM:616286
HP:0002815	Abnormality of the knee	1756	DMD	OMIM:310200
HP:0002815	Abnormality of the knee	5352	PLOD2	OMIM:609220
HP:0002815	Abnormality of the knee	1291	COL6A1	ORPHA:75840
HP:0002815	Abnormality of the knee	1292	COL6A2	ORPHA:75840
HP:0002815	Abnormality of the knee	1293	COL6A3	ORPHA:75840
HP:0002815	Abnormality of the knee	6840	SVIL	OMIM:619040
HP:0002815	Abnormality of the knee	91179	SCARF2	OMIM:600920
HP:0002815	Abnormality of the knee	3714	JAG2	OMIM:619566
HP:0002815	Abnormality of the knee	51506	UFC1	OMIM:618076
HP:0002815	Abnormality of the knee	4649	MYO9A	OMIM:618198
HP:0002815	Abnormality of the knee	6616	SNAP25	OMIM:616330
HP:0002815	Abnormality of the knee	2067	ERCC1	OMIM:610758
HP:0002815	Abnormality of the knee	29925	GMPPB	ORPHA:353327
HP:0002815	Abnormality of the knee	2673	GFPT1	ORPHA:353327
HP:0002815	Abnormality of the knee	1798	DPAGT1	ORPHA:353327
HP:0002815	Abnormality of the knee	85365	ALG2	ORPHA:353327
HP:0002815	Abnormality of the knee	85365	ALG2	OMIM:616228
HP:0002815	Abnormality of the knee	199857	ALG14	ORPHA:353327
HP:0002815	Abnormality of the knee	79158	GNPTAB	ORPHA:576
HP:0002815	Abnormality of the knee	1146	CHRNG	OMIM:265000
HP:0002815	Abnormality of the knee	2273	FHL1	OMIM:300695
HP:0002815	Abnormality of the knee	4621	MYH3	OMIM:193700
HP:0002815	Abnormality of the knee	4621	MYH3	OMIM:178110
HP:0002815	Abnormality of the knee	23321	TRIM2	OMIM:615490
HP:0002815	Abnormality of the knee	92255	LMBRD2	OMIM:619694
HP:0002815	Abnormality of the knee	2010	EMD	OMIM:310300
HP:0002815	Abnormality of the knee	29968	PSAT1	ORPHA:284417
HP:0002815	Abnormality of the knee	57190	SELENON	ORPHA:2020
HP:0002815	Abnormality of the knee	4633	MYL2	ORPHA:2020
HP:0002815	Abnormality of the knee	3679	ITGA7	ORPHA:2020
HP:0002815	Abnormality of the knee	9200	HACD1	ORPHA:2020
HP:0002815	Abnormality of the knee	7170	TPM3	ORPHA:2020
HP:0002815	Abnormality of the knee	51776	MAP3K20	ORPHA:2020
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:619621
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:616531
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:619708
HP:0002815	Abnormality of the knee	127833	SYT2	OMIM:619461
HP:0002815	Abnormality of the knee	5277	PIGA	OMIM:300868
HP:0002815	Abnormality of the knee	2783	GNB2	OMIM:619503
HP:0002815	Abnormality of the knee	4632	MYL1	OMIM:618414
HP:0002815	Abnormality of the knee	79644	SRD5A3	OMIM:612713
HP:0002815	Abnormality of the knee	9531	BAG3	OMIM:612954
HP:0002815	Abnormality of the knee	2074	ERCC6	OMIM:214150
HP:0002815	Abnormality of the knee	9051	PSTPIP1	OMIM:604416
HP:0002815	Abnormality of the knee	9791	PTDSS1	OMIM:151050
HP:0002815	Abnormality of the knee	29895	MYL11	OMIM:619110
HP:0002815	Abnormality of the knee	9894	TELO2	ORPHA:488642
HP:0002815	Abnormality of the knee	259232	NALCN	ORPHA:371364
HP:0002815	Abnormality of the knee	259232	NALCN	OMIM:616266
HP:0002815	Abnormality of the knee	285175	UNC80	ORPHA:371364
HP:0002815	Abnormality of the knee	25914	RTTN	ORPHA:468631
HP:0002815	Abnormality of the knee	157570	ESCO2	ORPHA:3103
HP:0002815	Abnormality of the knee	157570	ESCO2	OMIM:268300
HP:0002815	Abnormality of the knee	84992	PIGY	OMIM:616809
HP:0002815	Abnormality of the knee	10613	ERLIN1	ORPHA:401785
HP:0002815	Abnormality of the knee	6134	RPL10	ORPHA:435938
HP:0002815	Abnormality of the knee	22978	NT5C2	ORPHA:320396
HP:0002815	Abnormality of the knee	2222	FDFT1	OMIM:618156
HP:0002815	Abnormality of the knee	83636	C19orf12	OMIM:615043
HP:0002815	Abnormality of the knee	163175	LGI4	OMIM:617468
HP:0002815	Abnormality of the knee	4773	NFATC2	OMIM:620232
HP:0002815	Abnormality of the knee	1376	CPT2	OMIM:608836
HP:0002815	Abnormality of the knee	5296	PIK3R2	OMIM:603387
HP:0002815	Abnormality of the knee	23387	SIK3	OMIM:618162
HP:0002815	Abnormality of the knee	23299	BICD2	OMIM:615290
HP:0002815	Abnormality of the knee	8813	DPM1	OMIM:608799
HP:0002815	Abnormality of the knee	8813	DPM1	ORPHA:79322
HP:0002815	Abnormality of the knee	5745	PTH1R	OMIM:156400
HP:0002815	Abnormality of the knee	339855	KY	ORPHA:496689
HP:0002815	Abnormality of the knee	6572	SLC18A3	OMIM:617239
HP:0002815	Abnormality of the knee	6389	SDHA	ORPHA:3208
HP:0002815	Abnormality of the knee	6390	SDHB	ORPHA:3208
HP:0002815	Abnormality of the knee	6392	SDHD	ORPHA:3208
HP:0002815	Abnormality of the knee	644096	SDHAF1	ORPHA:3208
HP:0002815	Abnormality of the knee	7317	UBA1	ORPHA:1145
HP:0002815	Abnormality of the knee	55681	SCYL2	ORPHA:1143
HP:0002815	Abnormality of the knee	84570	COL25A1	ORPHA:1143
HP:0002815	Abnormality of the knee	57222	ERGIC1	ORPHA:1143
HP:0002815	Abnormality of the knee	64116	SLC39A8	ORPHA:468699
HP:0002815	Abnormality of the knee	91137	SLC25A46	OMIM:619303
HP:0002815	Abnormality of the knee	1140	CHRNB1	OMIM:616313
HP:0002815	Abnormality of the knee	529	ATP6V1E1	OMIM:617402
HP:0002815	Abnormality of the knee	8449	DHX16	OMIM:618733
HP:0002815	Abnormality of the knee	2737	GLI3	ORPHA:93322
HP:0002815	Abnormality of the knee	7415	VCP	ORPHA:435387
HP:0002815	Abnormality of the knee	2318	FLNC	ORPHA:63273
HP:0002815	Abnormality of the knee	9427	ECEL1	OMIM:615065
HP:0002815	Abnormality of the knee	51715	RAB23	OMIM:201000
HP:0002815	Abnormality of the knee	7476	WNT7A	OMIM:228930
HP:0002815	Abnormality of the knee	727857	BHLHA9	ORPHA:3329
HP:0002815	Abnormality of the knee	64327	LMBR1	ORPHA:988
HP:0002815	Abnormality of the knee	64327	LMBR1	OMIM:135750
HP:0002815	Abnormality of the knee	6469	SHH	ORPHA:988
HP:0002815	Abnormality of the knee	5000	ORC4	ORPHA:2554
HP:0002815	Abnormality of the knee	5000	ORC4	OMIM:613800
HP:0002815	Abnormality of the knee	990	CDC6	ORPHA:2554
HP:0002815	Abnormality of the knee	990	CDC6	OMIM:613805
HP:0002815	Abnormality of the knee	51053	GMNN	ORPHA:2554
HP:0002815	Abnormality of the knee	51053	GMNN	OMIM:616835
HP:0002815	Abnormality of the knee	3835	KIF22	OMIM:603546
HP:0002815	Abnormality of the knee	57492	ARID1B	OMIM:135900
HP:0002815	Abnormality of the knee	8318	CDC45	OMIM:617063
HP:0002815	Abnormality of the knee	9401	RECQL4	ORPHA:1225
HP:0002815	Abnormality of the knee	9401	RECQL4	OMIM:266280
HP:0002815	Abnormality of the knee	23594	ORC6	OMIM:613803
HP:0002815	Abnormality of the knee	60681	FKBP10	ORPHA:1149
HP:0002815	Abnormality of the knee	1303	COL12A1	ORPHA:536516
HP:0002815	Abnormality of the knee	8239	USP9X	ORPHA:480880
HP:0002815	Abnormality of the knee	1788	DNMT3A	OMIM:615879
HP:0002815	Abnormality of the knee	5159	PDGFRB	OMIM:601812
HP:0002815	Abnormality of the knee	1289	COL5A1	OMIM:130000
HP:0002815	Abnormality of the knee	2131	EXT1	ORPHA:321
HP:0002815	Abnormality of the knee	2132	EXT2	ORPHA:321
HP:0002815	Abnormality of the knee	427	ASAH1	OMIM:228000
HP:0002815	Abnormality of the knee	1861	TOR1A	OMIM:618947
HP:0002815	Abnormality of the knee	649	BMP1	OMIM:614856
HP:0002815	Abnormality of the knee	3081	HGD	OMIM:203500
HP:0002815	Abnormality of the knee	1280	COL2A1	OMIM:183900
HP:0002815	Abnormality of the knee	2316	FLNA	ORPHA:1826
HP:0002815	Abnormality of the knee	6885	MAP3K7	ORPHA:1826
HP:0002815	Abnormality of the knee	9131	AIFM1	ORPHA:83629
HP:0002815	Abnormality of the knee	375056	MIA3	OMIM:619269
HP:0002815	Abnormality of the knee	1836	SLC26A2	ORPHA:93307
HP:0002815	Abnormality of the knee	1836	SLC26A2	OMIM:226900
HP:0002815	Abnormality of the knee	3373	HYAL1	OMIM:601492
HP:0002815	Abnormality of the knee	114548	NLRP3	OMIM:607115
HP:0002815	Abnormality of the knee	1311	COMP	ORPHA:750
HP:0002816	Genu recurvatum	10717	AP4B1	ORPHA:280763
HP:0002816	Genu recurvatum	10717	AP4B1	OMIM:614066
HP:0002816	Genu recurvatum	9179	AP4M1	ORPHA:280763
HP:0002816	Genu recurvatum	11154	AP4S1	ORPHA:280763
HP:0002816	Genu recurvatum	23431	AP4E1	ORPHA:280763
HP:0002816	Genu recurvatum	6497	SKI	OMIM:182212
HP:0002816	Genu recurvatum	11285	B4GALT7	OMIM:130070
HP:0002816	Genu recurvatum	4123	MAN2C1	OMIM:619775
HP:0002816	Genu recurvatum	2200	FBN1	OMIM:154700
HP:0002816	Genu recurvatum	2892	GRIA3	ORPHA:364028
HP:0002816	Genu recurvatum	4998	ORC1	OMIM:224690
HP:0002816	Genu recurvatum	1278	COL1A2	OMIM:225320
HP:0002816	Genu recurvatum	1278	COL1A2	ORPHA:230851
HP:0002816	Genu recurvatum	3265	HRAS	ORPHA:2612
HP:0002816	Genu recurvatum	3845	KRAS	ORPHA:2612
HP:0002816	Genu recurvatum	4893	NRAS	ORPHA:2612
HP:0002816	Genu recurvatum	9469	CHST3	OMIM:143095
HP:0002816	Genu recurvatum	57479	PRR12	OMIM:619539
HP:0002816	Genu recurvatum	2006	ELN	ORPHA:90348
HP:0002816	Genu recurvatum	10516	FBLN5	ORPHA:90348
HP:0002816	Genu recurvatum	5832	ALDH18A1	ORPHA:90348
HP:0002816	Genu recurvatum	285590	SH3PXD2B	ORPHA:137834
HP:0002816	Genu recurvatum	1073	CFL2	OMIM:610687
HP:0002816	Genu recurvatum	8936	WASF1	OMIM:618707
HP:0002816	Genu recurvatum	64131	XYLT1	ORPHA:1425
HP:0002816	Genu recurvatum	124583	CANT1	ORPHA:1425
HP:0002816	Genu recurvatum	55790	CSGALNACT1	ORPHA:1425
HP:0002816	Genu recurvatum	1311	COMP	OMIM:177170
HP:0002816	Genu recurvatum	9150	CTDP1	OMIM:604168
HP:0002816	Genu recurvatum	9321	TRIP11	OMIM:184260
HP:0002816	Genu recurvatum	6536	SLC6A9	OMIM:617301
HP:0002816	Genu recurvatum	5728	PTEN	ORPHA:2969
HP:0002816	Genu recurvatum	2245	FGD1	ORPHA:915
HP:0002816	Genu recurvatum	81620	CDT1	OMIM:613804
HP:0002816	Genu recurvatum	57192	MCOLN1	ORPHA:578
HP:0002816	Genu recurvatum	203859	ANO5	ORPHA:206549
HP:0002821	Neuropathic arthropathy	25923	ATL3	OMIM:615632
HP:0002821	Neuropathic arthropathy	25923	ATL3	ORPHA:36386
HP:0002821	Neuropathic arthropathy	8518	ELP1	OMIM:223900
HP:0002821	Neuropathic arthropathy	4914	NTRK1	ORPHA:642
HP:0002821	Neuropathic arthropathy	4914	NTRK1	OMIM:256800
HP:0002821	Neuropathic arthropathy	10558	SPTLC1	ORPHA:36386
HP:0002821	Neuropathic arthropathy	9517	SPTLC2	ORPHA:36386
HP:0002821	Neuropathic arthropathy	51062	ATL1	ORPHA:36386
HP:0002822	Hyperplasia of the femoral trochanters	59341	TRPV4	OMIM:156530
HP:0002823	Abnormality of femur morphology	7355	SLC35A2	ORPHA:356961
HP:0002823	Abnormality of femur morphology	4897	NRCAM	OMIM:619833
HP:0002823	Abnormality of femur morphology	347734	SLC35B2	OMIM:620269
HP:0002823	Abnormality of femur morphology	546	ATRX	OMIM:301040
HP:0002823	Abnormality of femur morphology	55593	OTUD5	OMIM:301056
HP:0002823	Abnormality of femur morphology	613	BCR	ORPHA:261330
HP:0002823	Abnormality of femur morphology	1399	CRKL	ORPHA:261330
HP:0002823	Abnormality of femur morphology	5594	MAPK1	ORPHA:261330
HP:0002823	Abnormality of femur morphology	2137	EXTL3	OMIM:617425
HP:0002823	Abnormality of femur morphology	4000	LMNA	OMIM:248370
HP:0002823	Abnormality of femur morphology	4000	LMNA	ORPHA:740
HP:0002823	Abnormality of femur morphology	3764	KCNJ8	ORPHA:1517
HP:0002823	Abnormality of femur morphology	10060	ABCC9	ORPHA:1517
HP:0002823	Abnormality of femur morphology	10060	ABCC9	OMIM:239850
HP:0002823	Abnormality of femur morphology	55768	NGLY1	ORPHA:404454
HP:0002823	Abnormality of femur morphology	79158	GNPTAB	OMIM:252500
HP:0002823	Abnormality of femur morphology	6197	RPS6KA3	OMIM:303600
HP:0002823	Abnormality of femur morphology	64135	IFIH1	OMIM:182250
HP:0002823	Abnormality of femur morphology	3190	HNRNPK	OMIM:616580
HP:0002823	Abnormality of femur morphology	57492	ARID1B	OMIM:135900
HP:0002823	Abnormality of femur morphology	4998	ORC1	OMIM:224690
HP:0002823	Abnormality of femur morphology	3899	AFF3	OMIM:619297
HP:0002823	Abnormality of femur morphology	84068	SLC10A7	OMIM:618363
HP:0002823	Abnormality of femur morphology	8726	EED	OMIM:617561
HP:0002823	Abnormality of femur morphology	633	BGN	OMIM:300106
HP:0002823	Abnormality of femur morphology	9451	EIF2AK3	OMIM:226980
HP:0002823	Abnormality of femur morphology	3425	IDUA	OMIM:607014
HP:0002823	Abnormality of femur morphology	4247	MGAT2	OMIM:212066
HP:0002823	Abnormality of femur morphology	2074	ERCC6	OMIM:214150
HP:0002823	Abnormality of femur morphology	10804	GJB6	ORPHA:477
HP:0002823	Abnormality of femur morphology	2706	GJB2	ORPHA:477
HP:0002823	Abnormality of femur morphology	9321	TRIP11	ORPHA:166272
HP:0002823	Abnormality of femur morphology	11285	B4GALT7	OMIM:130070
HP:0002823	Abnormality of femur morphology	2517	FUCA1	OMIM:230000
HP:0002823	Abnormality of femur morphology	2588	GALNS	OMIM:253000
HP:0002823	Abnormality of femur morphology	7040	TGFB1	ORPHA:1328
HP:0002823	Abnormality of femur morphology	10236	HNRNPR	OMIM:620073
HP:0002823	Abnormality of femur morphology	25839	COG4	OMIM:618150
HP:0002823	Abnormality of femur morphology	10269	ZMPSTE24	ORPHA:740
HP:0002823	Abnormality of femur morphology	6558	SLC12A2	OMIM:619080
HP:0002823	Abnormality of femur morphology	51715	RAB23	OMIM:201000
HP:0002823	Abnormality of femur morphology	388015	RTL1	ORPHA:96334
HP:0002823	Abnormality of femur morphology	8788	DLK1	ORPHA:96334
HP:0002823	Abnormality of femur morphology	55384	MEG3	ORPHA:96334
HP:0002823	Abnormality of femur morphology	126792	B3GALT6	OMIM:271640
HP:0002823	Abnormality of femur morphology	3187	HNRNPH1	OMIM:620083
HP:0002823	Abnormality of femur morphology	2146	EZH2	OMIM:277590
HP:0002823	Abnormality of femur morphology	2961	GTF2E2	OMIM:616943
HP:0002823	Abnormality of femur morphology	865	CBFB	OMIM:620099
HP:0002823	Abnormality of femur morphology	2737	GLI3	ORPHA:93322
HP:0002823	Abnormality of femur morphology	1280	COL2A1	OMIM:184255
HP:0002823	Abnormality of femur morphology	1280	COL2A1	OMIM:184250
HP:0002823	Abnormality of femur morphology	1280	COL2A1	ORPHA:93315
HP:0002823	Abnormality of femur morphology	1280	COL2A1	ORPHA:93316
HP:0002823	Abnormality of femur morphology	1280	COL2A1	OMIM:609162
HP:0002823	Abnormality of femur morphology	1280	COL2A1	ORPHA:166011
HP:0002823	Abnormality of femur morphology	1280	COL2A1	OMIM:156550
HP:0002823	Abnormality of femur morphology	1280	COL2A1	OMIM:183900
HP:0002823	Abnormality of femur morphology	2335	FN1	OMIM:184255
HP:0002823	Abnormality of femur morphology	2335	FN1	ORPHA:93315
HP:0002823	Abnormality of femur morphology	59341	TRPV4	OMIM:184252
HP:0002823	Abnormality of femur morphology	59341	TRPV4	ORPHA:93314
HP:0002823	Abnormality of femur morphology	6399	TRAPPC2	ORPHA:93284
HP:0002823	Abnormality of femur morphology	6399	TRAPPC2	OMIM:313400
HP:0002823	Abnormality of femur morphology	65992	DDRGK1	OMIM:602557
HP:0002823	Abnormality of femur morphology	538	ATP7A	ORPHA:198
HP:0002823	Abnormality of femur morphology	9131	AIFM1	OMIM:300232
HP:0002823	Abnormality of femur morphology	2131	EXT1	OMIM:133700
HP:0002823	Abnormality of femur morphology	2132	EXT2	OMIM:133701
HP:0002823	Abnormality of femur morphology	85301	COL27A1	OMIM:615155
HP:0002823	Abnormality of femur morphology	579	NKX3-2	OMIM:613330
HP:0002823	Abnormality of femur morphology	1857	DVL3	ORPHA:3107
HP:0002823	Abnormality of femur morphology	7474	WNT5A	ORPHA:3107
HP:0002823	Abnormality of femur morphology	1855	DVL1	ORPHA:3107
HP:0002823	Abnormality of femur morphology	10312	TCIRG1	OMIM:259700
HP:0002823	Abnormality of femur morphology	5885	RAD21	OMIM:614701
HP:0002823	Abnormality of femur morphology	755	CFAP410	OMIM:602271
HP:0002823	Abnormality of femur morphology	81031	SLC2A10	ORPHA:3342
HP:0002823	Abnormality of femur morphology	4796	TONSL	ORPHA:93357
HP:0002823	Abnormality of femur morphology	4796	TONSL	OMIM:271510
HP:0002823	Abnormality of femur morphology	51119	SBDS	OMIM:260400
HP:0002823	Abnormality of femur morphology	134218	DNAJC21	OMIM:260400
HP:0002823	Abnormality of femur morphology	6729	SRP54	OMIM:260400
HP:0002823	Abnormality of femur morphology	5176	SERPINF1	OMIM:613982
HP:0002823	Abnormality of femur morphology	10216	PRG4	ORPHA:2848
HP:0002823	Abnormality of femur morphology	10216	PRG4	OMIM:208250
HP:0002823	Abnormality of femur morphology	60681	FKBP10	OMIM:259450
HP:0002823	Abnormality of femur morphology	60681	FKBP10	OMIM:610968
HP:0002823	Abnormality of femur morphology	1298	COL9A2	ORPHA:166002
HP:0002823	Abnormality of femur morphology	1299	COL9A3	ORPHA:166002
HP:0002823	Abnormality of femur morphology	4784	NFIX	OMIM:602535
HP:0002823	Abnormality of femur morphology	10940	POP1	OMIM:617396
HP:0002823	Abnormality of femur morphology	3549	IHH	ORPHA:63446
HP:0002823	Abnormality of femur morphology	3549	IHH	OMIM:607778
HP:0002823	Abnormality of femur morphology	11014	KDELR2	OMIM:619131
HP:0002823	Abnormality of femur morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002823	Abnormality of femur morphology	23545	ATP6V0A2	OMIM:278250
HP:0002823	Abnormality of femur morphology	10491	CRTAP	OMIM:610682
HP:0002823	Abnormality of femur morphology	5116	PCNT	ORPHA:2637
HP:0002823	Abnormality of femur morphology	5116	PCNT	OMIM:210720
HP:0002823	Abnormality of femur morphology	6137	RPL13	OMIM:618728
HP:0002823	Abnormality of femur morphology	9496	TBX4	OMIM:147891
HP:0002823	Abnormality of femur morphology	3339	HSPG2	OMIM:255800
HP:0002823	Abnormality of femur morphology	3339	HSPG2	ORPHA:800
HP:0002823	Abnormality of femur morphology	2317	FLNB	OMIM:272460
HP:0002823	Abnormality of femur morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002823	Abnormality of femur morphology	9509	ADAMTS2	ORPHA:1901
HP:0002823	Abnormality of femur morphology	64131	XYLT1	ORPHA:1425
HP:0002823	Abnormality of femur morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002823	Abnormality of femur morphology	860	RUNX2	OMIM:119600
HP:0002823	Abnormality of femur morphology	860	RUNX2	ORPHA:1452
HP:0002823	Abnormality of femur morphology	1954	MEGF8	OMIM:614976
HP:0002823	Abnormality of femur morphology	5830	PEX5	OMIM:616716
HP:0002823	Abnormality of femur morphology	23594	ORC6	OMIM:613803
HP:0002823	Abnormality of femur morphology	1278	COL1A2	ORPHA:1899
HP:0002823	Abnormality of femur morphology	23592	LEMD3	ORPHA:166119
HP:0002823	Abnormality of femur morphology	1593	CYP27A1	ORPHA:909
HP:0002823	Abnormality of femur morphology	2200	FBN1	ORPHA:969
HP:0002823	Abnormality of femur morphology	4054	LTBP3	ORPHA:969
HP:0002823	Abnormality of femur morphology	672	BRCA1	ORPHA:84
HP:0002823	Abnormality of femur morphology	10459	MAD2L2	ORPHA:84
HP:0002823	Abnormality of femur morphology	7516	XRCC2	ORPHA:84
HP:0002823	Abnormality of femur morphology	29089	UBE2T	ORPHA:84
HP:0002823	Abnormality of femur morphology	675	BRCA2	ORPHA:84
HP:0002823	Abnormality of femur morphology	55120	FANCL	ORPHA:84
HP:0002823	Abnormality of femur morphology	2177	FANCD2	ORPHA:84
HP:0002823	Abnormality of femur morphology	2175	FANCA	ORPHA:84
HP:0002823	Abnormality of femur morphology	2187	FANCB	ORPHA:84
HP:0002823	Abnormality of femur morphology	2176	FANCC	ORPHA:84
HP:0002823	Abnormality of femur morphology	2178	FANCE	ORPHA:84
HP:0002823	Abnormality of femur morphology	2188	FANCF	ORPHA:84
HP:0002823	Abnormality of femur morphology	2189	FANCG	ORPHA:84
HP:0002823	Abnormality of femur morphology	5888	RAD51	ORPHA:84
HP:0002823	Abnormality of femur morphology	5889	RAD51C	ORPHA:84
HP:0002823	Abnormality of femur morphology	55159	RFWD3	ORPHA:84
HP:0002823	Abnormality of femur morphology	83990	BRIP1	ORPHA:84
HP:0002823	Abnormality of femur morphology	57697	FANCM	ORPHA:84
HP:0002823	Abnormality of femur morphology	79728	PALB2	ORPHA:84
HP:0002823	Abnormality of femur morphology	84464	SLX4	ORPHA:84
HP:0002823	Abnormality of femur morphology	2072	ERCC4	ORPHA:84
HP:0002823	Abnormality of femur morphology	55215	FANCI	ORPHA:84
HP:0002823	Abnormality of femur morphology	6916	TBXAS1	ORPHA:1802
HP:0002823	Abnormality of femur morphology	2717	GLA	ORPHA:324
HP:0002823	Abnormality of femur morphology	2778	GNAS	ORPHA:562
HP:0002823	Abnormality of femur morphology	10082	GPC6	ORPHA:93329
HP:0002823	Abnormality of femur morphology	4322	MMP13	OMIM:602111
HP:0002823	Abnormality of femur morphology	4322	MMP13	ORPHA:93356
HP:0002823	Abnormality of femur morphology	2261	FGFR3	OMIM:187600
HP:0002823	Abnormality of femur morphology	2261	FGFR3	OMIM:616482
HP:0002823	Abnormality of femur morphology	2261	FGFR3	ORPHA:85165
HP:0002823	Abnormality of femur morphology	2261	FGFR3	ORPHA:1860
HP:0002823	Abnormality of femur morphology	2261	FGFR3	OMIM:100800
HP:0002823	Abnormality of femur morphology	79659	DYNC2H1	OMIM:613091
HP:0002823	Abnormality of femur morphology	1300	COL10A1	OMIM:156500
HP:0002823	Abnormality of femur morphology	1300	COL10A1	ORPHA:174
HP:0002823	Abnormality of femur morphology	5447	POR	OMIM:201750
HP:0002823	Abnormality of femur morphology	5447	POR	ORPHA:95699
HP:0002823	Abnormality of femur morphology	5447	POR	OMIM:207410
HP:0002823	Abnormality of femur morphology	1184	CLCN5	OMIM:300554
HP:0002823	Abnormality of femur morphology	1184	CLCN5	OMIM:300009
HP:0002823	Abnormality of femur morphology	142680	SLC34A3	OMIM:241530
HP:0002823	Abnormality of femur morphology	1594	CYP27B1	ORPHA:289157
HP:0002823	Abnormality of femur morphology	1594	CYP27B1	OMIM:264700
HP:0002823	Abnormality of femur morphology	120227	CYP2R1	ORPHA:289157
HP:0002823	Abnormality of femur morphology	120227	CYP2R1	OMIM:600081
HP:0002823	Abnormality of femur morphology	55503	TRPV6	OMIM:618188
HP:0002823	Abnormality of femur morphology	5593	PRKG2	OMIM:619638
HP:0002823	Abnormality of femur morphology	6023	RMRP	OMIM:250250
HP:0002823	Abnormality of femur morphology	89970	RSPRY1	OMIM:616723
HP:0002823	Abnormality of femur morphology	5352	PLOD2	OMIM:609220
HP:0002823	Abnormality of femur morphology	4148	MATN3	OMIM:608728
HP:0002823	Abnormality of femur morphology	6662	SOX9	ORPHA:140
HP:0002823	Abnormality of femur morphology	6662	SOX9	OMIM:114290
HP:0002823	Abnormality of femur morphology	91754	NEK9	OMIM:617022
HP:0002823	Abnormality of femur morphology	91179	SCARF2	OMIM:600920
HP:0002823	Abnormality of femur morphology	2263	FGFR2	OMIM:207410
HP:0002823	Abnormality of femur morphology	1277	COL1A1	OMIM:166200
HP:0002823	Abnormality of femur morphology	2316	FLNA	OMIM:304120
HP:0002823	Abnormality of femur morphology	2316	FLNA	OMIM:311300
HP:0002823	Abnormality of femur morphology	3911	LAMA5	OMIM:620076
HP:0002823	Abnormality of femur morphology	1301	COL11A1	ORPHA:440354
HP:0002823	Abnormality of femur morphology	64175	P3H1	OMIM:610915
HP:0002823	Abnormality of femur morphology	54808	DYM	OMIM:223800
HP:0002823	Abnormality of femur morphology	5251	PHEX	OMIM:307800
HP:0002823	Abnormality of femur morphology	7476	WNT7A	OMIM:228930
HP:0002823	Abnormality of femur morphology	7476	WNT7A	OMIM:276820
HP:0002823	Abnormality of femur morphology	4125	MAN2B1	OMIM:248500
HP:0002823	Abnormality of femur morphology	25885	POLR1A	OMIM:616462
HP:0002823	Abnormality of femur morphology	55603	TENT5A	OMIM:617952
HP:0002823	Abnormality of femur morphology	727857	BHLHA9	ORPHA:3329
HP:0002823	Abnormality of femur morphology	284086	NEK8	OMIM:615415
HP:0002823	Abnormality of femur morphology	92344	GORAB	OMIM:231070
HP:0002823	Abnormality of femur morphology	9939	RBM8A	OMIM:274000
HP:0002823	Abnormality of femur morphology	166929	SGMS2	OMIM:126550
HP:0002823	Abnormality of femur morphology	3977	LIFR	OMIM:601559
HP:0002823	Abnormality of femur morphology	55151	TMEM38B	OMIM:615066
HP:0002823	Abnormality of femur morphology	7421	VDR	OMIM:277440
HP:0002823	Abnormality of femur morphology	25871	NEPRO	OMIM:618853
HP:0002823	Abnormality of femur morphology	8792	TNFRSF11A	OMIM:602080
HP:0002823	Abnormality of femur morphology	649	BMP1	OMIM:614856
HP:0002823	Abnormality of femur morphology	3930	LBR	OMIM:618019
HP:0002823	Abnormality of femur morphology	55112	DYNC2I1	OMIM:615503
HP:0002823	Abnormality of femur morphology	5130	PCYT1A	OMIM:608940
HP:0002823	Abnormality of femur morphology	9653	HS2ST1	OMIM:619194
HP:0002823	Abnormality of femur morphology	9742	IFT140	OMIM:266920
HP:0002823	Abnormality of femur morphology	8985	PLOD3	OMIM:612394
HP:0002823	Abnormality of femur morphology	9469	CHST3	OMIM:143095
HP:0002823	Abnormality of femur morphology	990	CDC6	OMIM:613805
HP:0002823	Abnormality of femur morphology	5286	PIK3C2A	ORPHA:557003
HP:0002823	Abnormality of femur morphology	9949	AMMECR1	OMIM:300990
HP:0002823	Abnormality of femur morphology	10588	MTHFS	OMIM:618367
HP:0002823	Abnormality of femur morphology	65250	CPLANE1	OMIM:277170
HP:0002823	Abnormality of femur morphology	23483	TGDS	OMIM:616145
HP:0002823	Abnormality of femur morphology	57167	SALL4	OMIM:147750
HP:0002823	Abnormality of femur morphology	815	CAMK2A	OMIM:617798
HP:0002823	Abnormality of femur morphology	11128	POLR3A	OMIM:264090
HP:0002823	Abnormality of femur morphology	11128	POLR3A	ORPHA:3455
HP:0002823	Abnormality of femur morphology	79087	ALG12	OMIM:607143
HP:0002823	Abnormality of femur morphology	22827	PUF60	ORPHA:508488
HP:0002823	Abnormality of femur morphology	8540	AGPS	OMIM:600121
HP:0002823	Abnormality of femur morphology	8802	SUCLG1	ORPHA:17
HP:0002823	Abnormality of femur morphology	202018	TAPT1	OMIM:616897
HP:0002823	Abnormality of femur morphology	871	SERPINH1	OMIM:613848
HP:0002823	Abnormality of femur morphology	4041	LRP5	ORPHA:2788
HP:0002823	Abnormality of femur morphology	6473	SHOX	OMIM:127300
HP:0002823	Abnormality of femur morphology	50485	SMARCAL1	ORPHA:1830
HP:0002823	Abnormality of femur morphology	3835	KIF22	ORPHA:93360
HP:0002823	Abnormality of femur morphology	3835	KIF22	OMIM:603546
HP:0002823	Abnormality of femur morphology	84572	GNPTG	OMIM:252605
HP:0002823	Abnormality of femur morphology	176	ACAN	OMIM:608361
HP:0002823	Abnormality of femur morphology	79848	CSPP1	ORPHA:397715
HP:0002823	Abnormality of femur morphology	9786	KIAA0586	ORPHA:397715
HP:0002823	Abnormality of femur morphology	9842	PLEKHM1	OMIM:611497
HP:0002823	Abnormality of femur morphology	9842	PLEKHM1	ORPHA:210110
HP:0002823	Abnormality of femur morphology	1186	CLCN7	ORPHA:210110
HP:0002823	Abnormality of femur morphology	2629	GBA1	OMIM:230800
HP:0002823	Abnormality of femur morphology	1436	CSF1R	OMIM:618476
HP:0002823	Abnormality of femur morphology	5660	PSAP	OMIM:610539
HP:0002823	Abnormality of femur morphology	4982	TNFRSF11B	OMIM:239000
HP:0002823	Abnormality of femur morphology	1758	DMP1	ORPHA:289176
HP:0002823	Abnormality of femur morphology	5167	ENPP1	ORPHA:289176
HP:0002823	Abnormality of femur morphology	8200	GDF5	OMIM:201250
HP:0002823	Abnormality of femur morphology	55898	UNC45A	OMIM:619377
HP:0002823	Abnormality of femur morphology	26277	TINF2	OMIM:613990
HP:0002823	Abnormality of femur morphology	9652	SKIC3	OMIM:222470
HP:0002823	Abnormality of femur morphology	1387	CREBBP	ORPHA:353277
HP:0002823	Abnormality of femur morphology	1387	CREBBP	ORPHA:353281
HP:0002823	Abnormality of femur morphology	7227	TRPS1	ORPHA:502
HP:0002823	Abnormality of femur morphology	7227	TRPS1	OMIM:190350
HP:0002823	Abnormality of femur morphology	7227	TRPS1	OMIM:190351
HP:0002823	Abnormality of femur morphology	7227	TRPS1	ORPHA:77258
HP:0002823	Abnormality of femur morphology	11277	TREX1	ORPHA:247691
HP:0002823	Abnormality of femur morphology	2033	EP300	ORPHA:353284
HP:0002823	Abnormality of femur morphology	10847	SRCAP	ORPHA:2044
HP:0002823	Abnormality of femur morphology	64374	SIL1	ORPHA:559
HP:0002823	Abnormality of femur morphology	51763	INPP5K	ORPHA:559
HP:0002823	Abnormality of femur morphology	1302	COL11A2	ORPHA:1427
HP:0002823	Abnormality of femur morphology	2697	GJA1	OMIM:218400
HP:0002823	Abnormality of femur morphology	56172	ANKH	OMIM:123000
HP:0002823	Abnormality of femur morphology	51025	PAM16	OMIM:613320
HP:0002823	Abnormality of femur morphology	26040	SETBP1	OMIM:269150
HP:0002823	Abnormality of femur morphology	1297	COL9A1	OMIM:614135
HP:0002823	Abnormality of femur morphology	2535	FZD2	OMIM:164745
HP:0002823	Abnormality of femur morphology	90	ACVR1	OMIM:135100
HP:0002823	Abnormality of femur morphology	55325	UFSP2	ORPHA:2114
HP:0002823	Abnormality of femur morphology	55325	UFSP2	OMIM:142669
HP:0002823	Abnormality of femur morphology	5745	PTH1R	OMIM:600002
HP:0002823	Abnormality of femur morphology	91252	SLC39A13	ORPHA:157965
HP:0002823	Abnormality of femur morphology	91252	SLC39A13	OMIM:612350
HP:0002823	Abnormality of femur morphology	372	ARCN1	OMIM:617164
HP:0002823	Abnormality of femur morphology	83452	RAB33B	OMIM:615222
HP:0002823	Abnormality of femur morphology	1311	COMP	OMIM:132400
HP:0002823	Abnormality of femur morphology	8838	CCN6	ORPHA:1159
HP:0002823	Abnormality of femur morphology	1836	SLC26A2	ORPHA:93307
HP:0002823	Abnormality of femur morphology	79639	TMEM53	OMIM:619727
HP:0002823	Abnormality of femur morphology	25782	RAB3GAP2	OMIM:212720
HP:0002823	Abnormality of femur morphology	9382	COG1	OMIM:611209
HP:0002823	Abnormality of femur morphology	124583	CANT1	OMIM:251450
HP:0002823	Abnormality of femur morphology	4010	LMX1B	OMIM:161200
HP:0002823	Abnormality of femur morphology	5979	RET	OMIM:162300
HP:0002823	Abnormality of femur morphology	2972	BRF1	OMIM:616202
HP:0002823	Abnormality of femur morphology	79631	EFL1	ORPHA:811
HP:0002823	Abnormality of femur morphology	5921	RASA1	ORPHA:90307
HP:0002823	Abnormality of femur morphology	7157	TP53	ORPHA:668
HP:0002823	Abnormality of femur morphology	5925	RB1	ORPHA:668
HP:0002823	Abnormality of femur morphology	11200	CHEK2	ORPHA:668
HP:0002823	Abnormality of femur morphology	60	ACTB	ORPHA:79107
HP:0002823	Abnormality of femur morphology	60	ACTB	OMIM:607371
HP:0002823	Abnormality of femur morphology	5297	PI4KA	OMIM:616531
HP:0002823	Abnormality of femur morphology	3459	IFNGR1	OMIM:209950
HP:0002823	Abnormality of femur morphology	26146	TRAF3IP1	OMIM:616629
HP:0002823	Abnormality of femur morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002823	Abnormality of femur morphology	2720	GLB1	ORPHA:79255
HP:0002823	Abnormality of femur morphology	55699	IARS2	OMIM:616007
HP:0002823	Abnormality of femur morphology	6913	TBX15	OMIM:260660
HP:0002823	Abnormality of femur morphology	9759	HDAC4	OMIM:619797
HP:0002823	Abnormality of femur morphology	5626	PROP1	ORPHA:226307
HP:0002823	Abnormality of femur morphology	89884	LHX4	ORPHA:226307
HP:0002823	Abnormality of femur morphology	8022	LHX3	ORPHA:226307
HP:0002823	Abnormality of femur morphology	5449	POU1F1	ORPHA:226307
HP:0002823	Abnormality of femur morphology	8820	HESX1	ORPHA:226307
HP:0002823	Abnormality of femur morphology	405753	DUOXA2	ORPHA:95716
HP:0002823	Abnormality of femur morphology	6528	SLC5A5	ORPHA:95716
HP:0002823	Abnormality of femur morphology	7038	TG	ORPHA:95716
HP:0002823	Abnormality of femur morphology	7173	TPO	ORPHA:95716
HP:0002823	Abnormality of femur morphology	389434	IYD	ORPHA:95716
HP:0002823	Abnormality of femur morphology	50506	DUOX2	ORPHA:95716
HP:0002823	Abnormality of femur morphology	7253	TSHR	ORPHA:90673
HP:0002823	Abnormality of femur morphology	7252	TSHB	ORPHA:90674
HP:0002823	Abnormality of femur morphology	415	ARSL	ORPHA:79345
HP:0002823	Abnormality of femur morphology	55636	CHD7	OMIM:214800
HP:0002823	Abnormality of femur morphology	55636	CHD7	ORPHA:138
HP:0002823	Abnormality of femur morphology	9723	SEMA3E	ORPHA:138
HP:0002823	Abnormality of femur morphology	60561	RINT1	OMIM:618641
HP:0002823	Abnormality of femur morphology	3313	HSPA9	OMIM:616854
HP:0002823	Abnormality of femur morphology	5144	PDE4D	ORPHA:439822
HP:0002823	Abnormality of femur morphology	6812	STXBP1	ORPHA:495818
HP:0002823	Abnormality of femur morphology	57003	CCDC47	OMIM:618268
HP:0002823	Abnormality of femur morphology	84342	COG8	OMIM:611182
HP:0002823	Abnormality of femur morphology	51506	UFC1	OMIM:618076
HP:0002823	Abnormality of femur morphology	7043	TGFB3	OMIM:615582
HP:0002823	Abnormality of femur morphology	26128	KIFBP	OMIM:609460
HP:0002823	Abnormality of femur morphology	8567	MADD	OMIM:619005
HP:0002823	Abnormality of femur morphology	9158	FIBP	ORPHA:500095
HP:0002823	Abnormality of femur morphology	64132	XYLT2	OMIM:605822
HP:0002823	Abnormality of femur morphology	23299	BICD2	OMIM:618291
HP:0002823	Abnormality of femur morphology	221496	LEMD2	OMIM:619322
HP:0002823	Abnormality of femur morphology	26175	LYSET	OMIM:619345
HP:0002823	Abnormality of femur morphology	91147	TMEM67	OMIM:602152
HP:0002823	Abnormality of femur morphology	8720	MBTPS1	OMIM:618392
HP:0002823	Abnormality of femur morphology	10651	MTX2	OMIM:619127
HP:0002823	Abnormality of femur morphology	23233	EXOC6B	OMIM:618395
HP:0002823	Abnormality of femur morphology	4318	MMP9	OMIM:613073
HP:0002823	Abnormality of femur morphology	1108	CHD4	OMIM:617159
HP:0002823	Abnormality of femur morphology	54187	NANS	OMIM:610442
HP:0002823	Abnormality of femur morphology	658	BMPR1B	OMIM:609441
HP:0002823	Abnormality of femur morphology	80169	CTC1	OMIM:612199
HP:0002823	Abnormality of femur morphology	25886	POC1A	OMIM:614813
HP:0002825	Caudal appendage	5648	MASP1	OMIM:257920
HP:0002825	Caudal appendage	5648	MASP1	ORPHA:293843
HP:0002825	Caudal appendage	78989	COLEC11	OMIM:265050
HP:0002825	Caudal appendage	78989	COLEC11	ORPHA:293843
HP:0002825	Caudal appendage	59341	TRPV4	OMIM:156530
HP:0002825	Caudal appendage	10584	COLEC10	ORPHA:293843
HP:0002825	Caudal appendage	79633	FAT4	ORPHA:314679
HP:0002825	Caudal appendage	8642	DCHS1	ORPHA:314679
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	ORPHA:2635
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	OMIM:156530
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	OMIM:184252
HP:0002827	Hip dislocation	9361	LONP1	OMIM:600373
HP:0002827	Hip dislocation	9361	LONP1	ORPHA:1458
HP:0002827	Hip dislocation	6261	RYR1	ORPHA:597
HP:0002827	Hip dislocation	6261	RYR1	OMIM:117000
HP:0002827	Hip dislocation	64840	PORCN	OMIM:305600
HP:0002827	Hip dislocation	6628	SNRPB	OMIM:117650
HP:0002827	Hip dislocation	9759	HDAC4	OMIM:619797
HP:0002827	Hip dislocation	5351	PLOD1	OMIM:225400
HP:0002827	Hip dislocation	134218	DNAJC21	OMIM:617052
HP:0002827	Hip dislocation	1182	CLCN3	OMIM:619512
HP:0002827	Hip dislocation	63895	PIEZO2	OMIM:114300
HP:0002827	Hip dislocation	2138	EYA1	OMIM:113650
HP:0002827	Hip dislocation	6495	SIX1	OMIM:113650
HP:0002827	Hip dislocation	84627	ZNF469	OMIM:229200
HP:0002827	Hip dislocation	55699	IARS2	OMIM:616007
HP:0002827	Hip dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0002827	Hip dislocation	7531	YWHAE	ORPHA:217385
HP:0002827	Hip dislocation	6885	MAP3K7	OMIM:617137
HP:0002827	Hip dislocation	9820	CUL7	ORPHA:2616
HP:0002827	Hip dislocation	23363	OBSL1	ORPHA:2616
HP:0002827	Hip dislocation	83987	CCDC8	ORPHA:2616
HP:0002827	Hip dislocation	8239	USP9X	ORPHA:480880
HP:0002827	Hip dislocation	8195	MKKS	OMIM:236700
HP:0002827	Hip dislocation	1131	CHRM3	ORPHA:2970
HP:0002827	Hip dislocation	1131	CHRM3	OMIM:100100
HP:0002827	Hip dislocation	10060	ABCC9	OMIM:619719
HP:0002827	Hip dislocation	23545	ATP6V0A2	OMIM:219200
HP:0002827	Hip dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0002827	Hip dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0002827	Hip dislocation	23545	ATP6V0A2	OMIM:278250
HP:0002827	Hip dislocation	9401	RECQL4	OMIM:268400
HP:0002827	Hip dislocation	89910	UBE3B	OMIM:244450
HP:0002827	Hip dislocation	1723	DHODH	OMIM:263750
HP:0002827	Hip dislocation	60482	SLC5A7	ORPHA:98914
HP:0002827	Hip dislocation	4649	MYO9A	ORPHA:98914
HP:0002827	Hip dislocation	1305	COL13A1	ORPHA:98914
HP:0002827	Hip dislocation	1103	CHAT	ORPHA:98914
HP:0002827	Hip dislocation	6576	SLC25A1	ORPHA:98914
HP:0002827	Hip dislocation	6843	VAMP1	ORPHA:98914
HP:0002827	Hip dislocation	375790	AGRN	ORPHA:98914
HP:0002827	Hip dislocation	127833	SYT2	ORPHA:98914
HP:0002827	Hip dislocation	6572	SLC18A3	ORPHA:98914
HP:0002827	Hip dislocation	6616	SNAP25	ORPHA:98914
HP:0002827	Hip dislocation	5832	ALDH18A1	OMIM:219150
HP:0002827	Hip dislocation	55768	NGLY1	ORPHA:404454
HP:0002827	Hip dislocation	2316	FLNA	OMIM:304120
HP:0002827	Hip dislocation	2273	FHL1	OMIM:300280
HP:0002827	Hip dislocation	7169	TPM2	OMIM:108120
HP:0002827	Hip dislocation	7169	TPM2	ORPHA:2020
HP:0002827	Hip dislocation	6904	TBCD	ORPHA:496641
HP:0002827	Hip dislocation	7547	ZIC3	OMIM:306955
HP:0002827	Hip dislocation	3835	KIF22	OMIM:603546
HP:0002827	Hip dislocation	2239	GPC4	ORPHA:373
HP:0002827	Hip dislocation	2719	GPC3	ORPHA:373
HP:0002827	Hip dislocation	7476	WNT7A	OMIM:228930
HP:0002827	Hip dislocation	1290	COL5A2	OMIM:130010
HP:0002827	Hip dislocation	523	ATP6V1A	ORPHA:357074
HP:0002827	Hip dislocation	529	ATP6V1E1	ORPHA:357074
HP:0002827	Hip dislocation	5528	PPP2R5D	ORPHA:457279
HP:0002827	Hip dislocation	5528	PPP2R5D	OMIM:616355
HP:0002827	Hip dislocation	8260	NAA10	OMIM:300855
HP:0002827	Hip dislocation	50814	NSDHL	OMIM:308050
HP:0002827	Hip dislocation	23522	KAT6B	OMIM:606170
HP:0002827	Hip dislocation	5831	PYCR1	OMIM:612940
HP:0002827	Hip dislocation	50628	GEMIN4	OMIM:617913
HP:0002827	Hip dislocation	3339	HSPG2	OMIM:255800
HP:0002827	Hip dislocation	6913	TBX15	ORPHA:93333
HP:0002827	Hip dislocation	9896	FIG4	OMIM:216340
HP:0002827	Hip dislocation	23299	BICD2	OMIM:618291
HP:0002827	Hip dislocation	22827	PUF60	ORPHA:508488
HP:0002827	Hip dislocation	1281	COL3A1	ORPHA:286
HP:0002827	Hip dislocation	57190	SELENON	ORPHA:2020
HP:0002827	Hip dislocation	58	ACTA1	ORPHA:2020
HP:0002827	Hip dislocation	4633	MYL2	ORPHA:2020
HP:0002827	Hip dislocation	3679	ITGA7	ORPHA:2020
HP:0002827	Hip dislocation	9200	HACD1	ORPHA:2020
HP:0002827	Hip dislocation	7170	TPM3	ORPHA:2020
HP:0002827	Hip dislocation	7170	TPM3	OMIM:255310
HP:0002827	Hip dislocation	51776	MAP3K20	ORPHA:2020
HP:0002827	Hip dislocation	51651	PTRH2	ORPHA:456312
HP:0002827	Hip dislocation	9427	ECEL1	OMIM:615065
HP:0002827	Hip dislocation	7067	THRA	OMIM:614450
HP:0002827	Hip dislocation	8085	KMT2D	OMIM:147920
HP:0002827	Hip dislocation	7403	KDM6A	OMIM:147920
HP:0002827	Hip dislocation	2737	GLI3	ORPHA:672
HP:0002827	Hip dislocation	2737	GLI3	OMIM:146510
HP:0002827	Hip dislocation	2737	GLI3	ORPHA:93322
HP:0002827	Hip dislocation	55906	ZC4H2	OMIM:301041
HP:0002827	Hip dislocation	55906	ZC4H2	OMIM:314580
HP:0002827	Hip dislocation	55703	POLR3B	OMIM:614381
HP:0002827	Hip dislocation	10262	SF3B4	OMIM:154400
HP:0002827	Hip dislocation	1291	COL6A1	OMIM:254090
HP:0002827	Hip dislocation	1291	COL6A1	ORPHA:75840
HP:0002827	Hip dislocation	1292	COL6A2	OMIM:254090
HP:0002827	Hip dislocation	1292	COL6A2	ORPHA:75840
HP:0002827	Hip dislocation	1293	COL6A3	OMIM:254090
HP:0002827	Hip dislocation	1293	COL6A3	ORPHA:75840
HP:0002827	Hip dislocation	56896	DPYSL5	OMIM:619435
HP:0002827	Hip dislocation	579	NKX3-2	OMIM:613330
HP:0002827	Hip dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0002827	Hip dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0002827	Hip dislocation	10054	UBA2	OMIM:619959
HP:0002827	Hip dislocation	79796	ALG9	OMIM:608776
HP:0002827	Hip dislocation	2317	FLNB	ORPHA:56305
HP:0002827	Hip dislocation	2317	FLNB	OMIM:150250
HP:0002827	Hip dislocation	4784	NFIX	ORPHA:447980
HP:0002827	Hip dislocation	6662	SOX9	ORPHA:140
HP:0002827	Hip dislocation	6662	SOX9	OMIM:114290
HP:0002827	Hip dislocation	4703	NEB	ORPHA:171436
HP:0002827	Hip dislocation	10324	KLHL41	ORPHA:171436
HP:0002827	Hip dislocation	56203	LMOD3	ORPHA:171436
HP:0002827	Hip dislocation	1073	CFL2	ORPHA:171436
HP:0002827	Hip dislocation	6536	SLC6A9	OMIM:617301
HP:0002827	Hip dislocation	1278	COL1A2	OMIM:617821
HP:0002827	Hip dislocation	1278	COL1A2	ORPHA:1899
HP:0002827	Hip dislocation	55784	MCTP2	ORPHA:1596
HP:0002827	Hip dislocation	16	AARS1	OMIM:616339
HP:0002827	Hip dislocation	51010	EXOSC3	OMIM:614678
HP:0002827	Hip dislocation	1717	DHCR7	ORPHA:818
HP:0002827	Hip dislocation	1717	DHCR7	OMIM:270400
HP:0002827	Hip dislocation	9915	ARNT2	OMIM:615926
HP:0002827	Hip dislocation	10225	CD96	OMIM:211750
HP:0002827	Hip dislocation	79158	GNPTAB	OMIM:252500
HP:0002827	Hip dislocation	79158	GNPTAB	ORPHA:576
HP:0002827	Hip dislocation	4626	MYH8	ORPHA:3377
HP:0002827	Hip dislocation	4626	MYH8	OMIM:158300
HP:0002827	Hip dislocation	4952	OCRL	ORPHA:534
HP:0002827	Hip dislocation	4952	OCRL	OMIM:309000
HP:0002827	Hip dislocation	2067	ERCC1	OMIM:610758
HP:0002827	Hip dislocation	4038	LRP4	ORPHA:3258
HP:0002827	Hip dislocation	324	APC	ORPHA:3258
HP:0002827	Hip dislocation	2187	FANCB	ORPHA:3412
HP:0002827	Hip dislocation	2187	FANCB	ORPHA:84
HP:0002827	Hip dislocation	23499	MACF1	ORPHA:572013
HP:0002827	Hip dislocation	387119	CEP85L	ORPHA:572013
HP:0002827	Hip dislocation	64135	IFIH1	OMIM:182250
HP:0002827	Hip dislocation	29925	GMPPB	ORPHA:370968
HP:0002827	Hip dislocation	79147	FKRP	ORPHA:370968
HP:0002827	Hip dislocation	29954	POMT2	ORPHA:370968
HP:0002827	Hip dislocation	29954	POMT2	OMIM:613156
HP:0002827	Hip dislocation	9215	LARGE1	ORPHA:370968
HP:0002827	Hip dislocation	10585	POMT1	ORPHA:370968
HP:0002827	Hip dislocation	1146	CHRNG	OMIM:265000
HP:0002827	Hip dislocation	4621	MYH3	OMIM:193700
HP:0002827	Hip dislocation	1351	COX8A	OMIM:619059
HP:0002827	Hip dislocation	2530	FUT8	OMIM:618005
HP:0002827	Hip dislocation	4052	LTBP1	OMIM:619451
HP:0002827	Hip dislocation	4052	LTBP1	ORPHA:90349
HP:0002827	Hip dislocation	3899	AFF3	OMIM:619297
HP:0002827	Hip dislocation	165	AEBP1	OMIM:618000
HP:0002827	Hip dislocation	165	AEBP1	ORPHA:536532
HP:0002827	Hip dislocation	3572	IL6ST	OMIM:618523
HP:0002827	Hip dislocation	64131	XYLT1	OMIM:615777
HP:0002827	Hip dislocation	29920	PYCR2	ORPHA:481152
HP:0002827	Hip dislocation	672	BRCA1	ORPHA:84
HP:0002827	Hip dislocation	10459	MAD2L2	ORPHA:84
HP:0002827	Hip dislocation	7516	XRCC2	ORPHA:84
HP:0002827	Hip dislocation	29089	UBE2T	ORPHA:84
HP:0002827	Hip dislocation	675	BRCA2	ORPHA:84
HP:0002827	Hip dislocation	55120	FANCL	ORPHA:84
HP:0002827	Hip dislocation	2177	FANCD2	ORPHA:84
HP:0002827	Hip dislocation	2175	FANCA	ORPHA:84
HP:0002827	Hip dislocation	2176	FANCC	ORPHA:84
HP:0002827	Hip dislocation	2178	FANCE	ORPHA:84
HP:0002827	Hip dislocation	2188	FANCF	ORPHA:84
HP:0002827	Hip dislocation	2189	FANCG	ORPHA:84
HP:0002827	Hip dislocation	5888	RAD51	ORPHA:84
HP:0002827	Hip dislocation	5889	RAD51C	ORPHA:84
HP:0002827	Hip dislocation	55159	RFWD3	ORPHA:84
HP:0002827	Hip dislocation	83990	BRIP1	ORPHA:84
HP:0002827	Hip dislocation	57697	FANCM	ORPHA:84
HP:0002827	Hip dislocation	79728	PALB2	ORPHA:84
HP:0002827	Hip dislocation	84464	SLX4	ORPHA:84
HP:0002827	Hip dislocation	2072	ERCC4	ORPHA:84
HP:0002827	Hip dislocation	55215	FANCI	ORPHA:84
HP:0002827	Hip dislocation	6678	SPARC	OMIM:616507
HP:0002827	Hip dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0002827	Hip dislocation	9509	ADAMTS2	ORPHA:1901
HP:0002827	Hip dislocation	8200	GDF5	ORPHA:968
HP:0002827	Hip dislocation	8200	GDF5	OMIM:201250
HP:0002827	Hip dislocation	64093	SMOC1	ORPHA:1106
HP:0002827	Hip dislocation	64093	SMOC1	OMIM:206920
HP:0002827	Hip dislocation	25778	DSTYK	ORPHA:101003
HP:0002827	Hip dislocation	1289	COL5A1	ORPHA:287
HP:0002827	Hip dislocation	57531	HACE1	ORPHA:464282
HP:0002827	Hip dislocation	57531	HACE1	OMIM:616756
HP:0002827	Hip dislocation	1280	COL2A1	OMIM:156550
HP:0002827	Hip dislocation	1280	COL2A1	OMIM:183900
HP:0002827	Hip dislocation	2743	GLRB	ORPHA:3197
HP:0002827	Hip dislocation	2741	GLRA1	ORPHA:3197
HP:0002827	Hip dislocation	2741	GLRA1	OMIM:149400
HP:0002827	Hip dislocation	10243	GPHN	ORPHA:3197
HP:0002827	Hip dislocation	10243	GPHN	OMIM:149400
HP:0002827	Hip dislocation	84896	ATAD1	ORPHA:3197
HP:0002827	Hip dislocation	9152	SLC6A5	ORPHA:3197
HP:0002827	Hip dislocation	55697	VAC14	ORPHA:3472
HP:0002827	Hip dislocation	860	RUNX2	OMIM:119600
HP:0002827	Hip dislocation	22872	SEC31A	OMIM:618651
HP:0002827	Hip dislocation	26175	LYSET	OMIM:619345
HP:0002827	Hip dislocation	9451	EIF2AK3	OMIM:226980
HP:0002827	Hip dislocation	10682	EBP	ORPHA:35173
HP:0002827	Hip dislocation	545	ATR	OMIM:210600
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93926
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93924
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93925
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:220386
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93926
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93924
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93925
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:220386
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93926
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93924
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93925
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:220386
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93926
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93924
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93925
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:220386
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93926
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93924
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93925
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:220386
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93926
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93924
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93925
HP:0002827	Hip dislocation	6469	SHH	ORPHA:220386
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93926
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93924
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93925
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:220386
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93926
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93924
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93925
HP:0002827	Hip dislocation	6491	STIL	ORPHA:220386
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93926
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93924
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93925
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:220386
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93926
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93924
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93925
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:220386
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93926
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93924
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93925
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:220386
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93926
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93924
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93925
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:220386
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93926
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93924
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93925
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:220386
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93926
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93924
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93925
HP:0002827	Hip dislocation	50937	CDON	ORPHA:220386
HP:0002827	Hip dislocation	2260	FGFR1	ORPHA:93924
HP:0002827	Hip dislocation	2260	FGFR1	ORPHA:220386
HP:0002827	Hip dislocation	23007	PLCH1	ORPHA:93925
HP:0002827	Hip dislocation	10735	STAG2	ORPHA:93925
HP:0002827	Hip dislocation	10735	STAG2	ORPHA:220386
HP:0002827	Hip dislocation	53834	FGFRL1	OMIM:194190
HP:0002827	Hip dislocation	1487	CTBP1	OMIM:194190
HP:0002827	Hip dislocation	3954	LETM1	OMIM:194190
HP:0002827	Hip dislocation	7468	NSD2	OMIM:194190
HP:0002827	Hip dislocation	10815	CPLX1	OMIM:194190
HP:0002827	Hip dislocation	64374	SIL1	ORPHA:559
HP:0002827	Hip dislocation	51763	INPP5K	ORPHA:559
HP:0002827	Hip dislocation	9487	PIGL	ORPHA:3474
HP:0002827	Hip dislocation	55644	OSGEP	OMIM:617729
HP:0002827	Hip dislocation	2697	GJA1	OMIM:164200
HP:0002827	Hip dislocation	2313	FLI1	ORPHA:2308
HP:0002827	Hip dislocation	23476	BRD4	ORPHA:199
HP:0002827	Hip dislocation	9126	SMC3	ORPHA:199
HP:0002827	Hip dislocation	8243	SMC1A	ORPHA:199
HP:0002827	Hip dislocation	8243	SMC1A	ORPHA:220386
HP:0002827	Hip dislocation	25836	NIPBL	ORPHA:199
HP:0002827	Hip dislocation	55869	HDAC8	ORPHA:199
HP:0002827	Hip dislocation	5885	RAD21	ORPHA:199
HP:0002827	Hip dislocation	538	ATP7A	ORPHA:198
HP:0002827	Hip dislocation	57003	CCDC47	OMIM:618268
HP:0002827	Hip dislocation	85301	COL27A1	OMIM:615155
HP:0002827	Hip dislocation	10526	IPO8	OMIM:619472
HP:0002827	Hip dislocation	1857	DVL3	ORPHA:3107
HP:0002827	Hip dislocation	7474	WNT5A	ORPHA:3107
HP:0002827	Hip dislocation	1855	DVL1	ORPHA:3107
HP:0002827	Hip dislocation	2535	FZD2	ORPHA:3107
HP:0002827	Hip dislocation	1861	TOR1A	OMIM:618947
HP:0002827	Hip dislocation	23233	EXOC6B	ORPHA:93359
HP:0002827	Hip dislocation	23233	EXOC6B	OMIM:618395
HP:0002827	Hip dislocation	126792	B3GALT6	ORPHA:93359
HP:0002827	Hip dislocation	126792	B3GALT6	OMIM:271640
HP:0002827	Hip dislocation	126792	B3GALT6	OMIM:615349
HP:0002827	Hip dislocation	23443	SLC35A3	OMIM:615553
HP:0002827	Hip dislocation	23443	SLC35A3	ORPHA:370943
HP:0002827	Hip dislocation	3098	HK1	OMIM:618547
HP:0002827	Hip dislocation	6608	SMO	OMIM:241800
HP:0002827	Hip dislocation	81031	SLC2A10	ORPHA:3342
HP:0002827	Hip dislocation	4796	TONSL	ORPHA:93357
HP:0002827	Hip dislocation	145258	GSC	OMIM:602471
HP:0002827	Hip dislocation	5728	PTEN	ORPHA:744
HP:0002827	Hip dislocation	207	AKT1	ORPHA:744
HP:0002827	Hip dislocation	6558	SLC12A2	OMIM:619083
HP:0002827	Hip dislocation	4000	LMNA	ORPHA:740
HP:0002827	Hip dislocation	10269	ZMPSTE24	ORPHA:740
HP:0002827	Hip dislocation	78989	COLEC11	OMIM:265050
HP:0002827	Hip dislocation	78989	COLEC11	ORPHA:293843
HP:0002827	Hip dislocation	3251	HPRT1	OMIM:300322
HP:0002827	Hip dislocation	51360	MBTPS2	OMIM:308205
HP:0002827	Hip dislocation	7140	TNNT3	OMIM:618435
HP:0002827	Hip dislocation	113246	C12orf57	OMIM:218340
HP:0002827	Hip dislocation	3187	HNRNPH1	OMIM:620083
HP:0002827	Hip dislocation	7030	TFE3	OMIM:301066
HP:0002827	Hip dislocation	2006	ELN	ORPHA:90348
HP:0002827	Hip dislocation	10516	FBLN5	ORPHA:90348
HP:0002827	Hip dislocation	10516	FBLN5	ORPHA:90349
HP:0002827	Hip dislocation	30008	EFEMP2	ORPHA:90349
HP:0002827	Hip dislocation	284058	KANSL1	OMIM:610443
HP:0002827	Hip dislocation	55681	SCYL2	ORPHA:1143
HP:0002827	Hip dislocation	84570	COL25A1	ORPHA:1143
HP:0002827	Hip dislocation	57222	ERGIC1	ORPHA:1143
HP:0002827	Hip dislocation	92344	GORAB	ORPHA:2078
HP:0002827	Hip dislocation	10584	COLEC10	ORPHA:293843
HP:0002827	Hip dislocation	5648	MASP1	ORPHA:293843
HP:0002827	Hip dislocation	9939	RBM8A	ORPHA:3320
HP:0002827	Hip dislocation	9939	RBM8A	OMIM:274000
HP:0002827	Hip dislocation	9469	CHST3	OMIM:245600
HP:0002827	Hip dislocation	26229	B3GAT3	OMIM:245600
HP:0002827	Hip dislocation	9775	EIF4A3	OMIM:268305
HP:0002827	Hip dislocation	81603	TRIM8	OMIM:619428
HP:0002827	Hip dislocation	3207	HOXA11	OMIM:605432
HP:0002827	Hip dislocation	1303	COL12A1	ORPHA:536516
HP:0002827	Hip dislocation	9894	TELO2	ORPHA:488642
HP:0002827	Hip dislocation	1277	COL1A1	OMIM:130060
HP:0002827	Hip dislocation	57477	SHROOM4	ORPHA:85288
HP:0002827	Hip dislocation	2192	FBLN1	ORPHA:404451
HP:0002827	Hip dislocation	8218	CLTCL1	ORPHA:453510
HP:0002828	Multiple joint contractures	4927	NUP88	ORPHA:994
HP:0002828	Multiple joint contractures	7846	TUBA1A	ORPHA:994
HP:0002828	Multiple joint contractures	4654	MYOD1	ORPHA:994
HP:0002828	Multiple joint contractures	4593	MUSK	ORPHA:994
HP:0002828	Multiple joint contractures	5913	RAPSN	ORPHA:994
HP:0002828	Multiple joint contractures	6572	SLC18A3	ORPHA:994
HP:0002828	Multiple joint contractures	285489	DOK7	ORPHA:994
HP:0002828	Multiple joint contractures	57190	SELENON	ORPHA:324604
HP:0002828	Multiple joint contractures	4625	MYH7	ORPHA:324604
HP:0002828	Multiple joint contractures	7273	TTN	ORPHA:324604
HP:0002828	Multiple joint contractures	6261	RYR1	ORPHA:597
HP:0002828	Multiple joint contractures	6261	RYR1	ORPHA:424107
HP:0002828	Multiple joint contractures	55131	RBM28	ORPHA:157954
HP:0002828	Multiple joint contractures	23769	FLRT1	ORPHA:320406
HP:0002828	Multiple joint contractures	64837	KLC2	ORPHA:320406
HP:0002828	Multiple joint contractures	27238	GPKOW	ORPHA:2570
HP:0002828	Multiple joint contractures	5393	EXOSC9	OMIM:618065
HP:0002828	Multiple joint contractures	94005	PIGS	OMIM:618143
HP:0002828	Multiple joint contractures	55823	VPS11	ORPHA:466934
HP:0002828	Multiple joint contractures	25914	RTTN	ORPHA:468631
HP:0002828	Multiple joint contractures	1303	COL12A1	ORPHA:536516
HP:0002828	Multiple joint contractures	1303	COL12A1	ORPHA:610
HP:0002828	Multiple joint contractures	2316	FLNA	OMIM:300244
HP:0002828	Multiple joint contractures	7051	TGM1	ORPHA:100976
HP:0002828	Multiple joint contractures	1763	DNA2	ORPHA:352470
HP:0002828	Multiple joint contractures	23396	PIP5K1C	OMIM:611369
HP:0002828	Multiple joint contractures	9968	MED12	OMIM:305450
HP:0002828	Multiple joint contractures	4604	MYBPC1	OMIM:614915
HP:0002828	Multiple joint contractures	9499	MYOT	ORPHA:98911
HP:0002828	Multiple joint contractures	54820	NDE1	OMIM:605013
HP:0002828	Multiple joint contractures	1291	COL6A1	ORPHA:610
HP:0002828	Multiple joint contractures	1292	COL6A2	ORPHA:610
HP:0002828	Multiple joint contractures	1293	COL6A3	ORPHA:610
HP:0002828	Multiple joint contractures	3417	IDH1	ORPHA:99646
HP:0002828	Multiple joint contractures	29925	GMPPB	ORPHA:370968
HP:0002828	Multiple joint contractures	79147	FKRP	ORPHA:370968
HP:0002828	Multiple joint contractures	29954	POMT2	ORPHA:370968
HP:0002828	Multiple joint contractures	9215	LARGE1	ORPHA:370968
HP:0002828	Multiple joint contractures	10585	POMT1	ORPHA:370968
HP:0002828	Multiple joint contractures	5373	PMM2	ORPHA:79318
HP:0002828	Multiple joint contractures	1146	CHRNG	OMIM:265000
HP:0002828	Multiple joint contractures	5981	RFC1	ORPHA:504476
HP:0002828	Multiple joint contractures	126792	B3GALT6	ORPHA:536467
HP:0002828	Multiple joint contractures	339855	KY	OMIM:617114
HP:0002828	Multiple joint contractures	199857	ALG14	OMIM:616227
HP:0002828	Multiple joint contractures	4000	LMNA	ORPHA:1662
HP:0002828	Multiple joint contractures	10269	ZMPSTE24	ORPHA:1662
HP:0002828	Multiple joint contractures	404672	GTF2H5	ORPHA:33364
HP:0002828	Multiple joint contractures	833	CARS1	ORPHA:33364
HP:0002828	Multiple joint contractures	2068	ERCC2	ORPHA:33364
HP:0002828	Multiple joint contractures	7737	RNF113A	ORPHA:33364
HP:0002828	Multiple joint contractures	136647	MPLKIP	ORPHA:33364
HP:0002828	Multiple joint contractures	6897	TARS1	ORPHA:33364
HP:0002828	Multiple joint contractures	2071	ERCC3	ORPHA:33364
HP:0002828	Multiple joint contractures	2961	GTF2E2	ORPHA:33364
HP:0002828	Multiple joint contractures	6509	SLC1A4	ORPHA:447997
HP:0002828	Multiple joint contractures	23299	BICD2	OMIM:618291
HP:0002828	Multiple joint contractures	7317	UBA1	OMIM:301830
HP:0002828	Multiple joint contractures	10535	RNASEH2A	ORPHA:51
HP:0002828	Multiple joint contractures	84153	RNASEH2C	ORPHA:51
HP:0002828	Multiple joint contractures	25939	SAMHD1	ORPHA:51
HP:0002828	Multiple joint contractures	79621	RNASEH2B	ORPHA:51
HP:0002828	Multiple joint contractures	103	ADAR	ORPHA:51
HP:0002828	Multiple joint contractures	11277	TREX1	ORPHA:51
HP:0002828	Multiple joint contractures	100147744	RNU7-1	ORPHA:51
HP:0002828	Multiple joint contractures	134353	LSM11	ORPHA:51
HP:0002828	Multiple joint contractures	64135	IFIH1	ORPHA:51
HP:0002828	Multiple joint contractures	1861	TOR1A	OMIM:128100
HP:0002828	Multiple joint contractures	9325	TRIP4	ORPHA:486815
HP:0002828	Multiple joint contractures	23516	SLC39A14	ORPHA:521406
HP:0002829	Arthralgia	50964	SOST	OMIM:269500
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:397
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:85408
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:900
HP:0002829	Arthralgia	26191	PTPN22	OMIM:180300
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:397
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:117
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:29207
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:3287
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:397
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:85414
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:220393
HP:0002829	Arthralgia	8974	P4HA2	ORPHA:397
HP:0002829	Arthralgia	171023	ASXL1	ORPHA:98850
HP:0002829	Arthralgia	171023	ASXL1	ORPHA:98849
HP:0002829	Arthralgia	54790	TET2	ORPHA:98850
HP:0002829	Arthralgia	54790	TET2	ORPHA:98849
HP:0002829	Arthralgia	54790	TET2	ORPHA:729
HP:0002829	Arthralgia	867	CBL	ORPHA:98850
HP:0002829	Arthralgia	861	RUNX1	ORPHA:98850
HP:0002829	Arthralgia	6427	SRSF2	ORPHA:98850
HP:0002829	Arthralgia	6427	SRSF2	ORPHA:98849
HP:0002829	Arthralgia	6399	TRAPPC2	ORPHA:93284
HP:0002829	Arthralgia	6399	TRAPPC2	OMIM:313400
HP:0002829	Arthralgia	90268	OTULIN	OMIM:617099
HP:0002829	Arthralgia	144811	LACC1	ORPHA:85414
HP:0002829	Arthralgia	4282	MIF	ORPHA:85414
HP:0002829	Arthralgia	3569	IL6	ORPHA:85414
HP:0002829	Arthralgia	30061	SLC40A1	ORPHA:139491
HP:0002829	Arthralgia	30061	SLC40A1	OMIM:606069
HP:0002829	Arthralgia	114548	NLRP3	OMIM:617772
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:47045
HP:0002829	Arthralgia	114548	NLRP3	OMIM:191900
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:575
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:1451
HP:0002829	Arthralgia	114548	NLRP3	OMIM:120100
HP:0002829	Arthralgia	7148	TNXB	ORPHA:230839
HP:0002829	Arthralgia	7148	TNXB	OMIM:606408
HP:0002829	Arthralgia	4598	MVK	OMIM:260920
HP:0002829	Arthralgia	4598	MVK	OMIM:610377
HP:0002829	Arthralgia	4598	MVK	ORPHA:343
HP:0002829	Arthralgia	3815	KIT	ORPHA:98849
HP:0002829	Arthralgia	3248	HPGD	ORPHA:1525
HP:0002829	Arthralgia	3248	HPGD	ORPHA:217059
HP:0002829	Arthralgia	3248	HPGD	ORPHA:2796
HP:0002829	Arthralgia	3248	HPGD	OMIM:259100
HP:0002829	Arthralgia	54209	TREM2	OMIM:618193
HP:0002829	Arthralgia	54209	TREM2	ORPHA:2770
HP:0002829	Arthralgia	6775	STAT4	ORPHA:85408
HP:0002829	Arthralgia	6775	STAT4	ORPHA:117
HP:0002829	Arthralgia	6775	STAT4	ORPHA:93552
HP:0002829	Arthralgia	3560	IL2RB	ORPHA:85408
HP:0002829	Arthralgia	79722	ANKRD55	ORPHA:85408
HP:0002829	Arthralgia	919	CD247	ORPHA:85408
HP:0002829	Arthralgia	3559	IL2RA	ORPHA:85408
HP:0002829	Arthralgia	5771	PTPN2	ORPHA:85408
HP:0002829	Arthralgia	4210	MEFV	OMIM:249100
HP:0002829	Arthralgia	4210	MEFV	ORPHA:3243
HP:0002829	Arthralgia	4210	MEFV	ORPHA:342
HP:0002829	Arthralgia	4210	MEFV	ORPHA:117
HP:0002829	Arthralgia	4210	MEFV	ORPHA:329967
HP:0002829	Arthralgia	4210	MEFV	OMIM:608068
HP:0002829	Arthralgia	4210	MEFV	OMIM:134610
HP:0002829	Arthralgia	1300	COL10A1	ORPHA:174
HP:0002829	Arthralgia	84572	GNPTG	OMIM:252605
HP:0002829	Arthralgia	1280	COL2A1	OMIM:616583
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:2380
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:90653
HP:0002829	Arthralgia	1280	COL2A1	OMIM:108300
HP:0002829	Arthralgia	1280	COL2A1	OMIM:604864
HP:0002829	Arthralgia	1280	COL2A1	OMIM:609162
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:166100
HP:0002829	Arthralgia	1280	COL2A1	OMIM:183900
HP:0002829	Arthralgia	9469	CHST3	OMIM:143095
HP:0002829	Arthralgia	9469	CHST3	ORPHA:263463
HP:0002829	Arthralgia	4352	MPL	ORPHA:729
HP:0002829	Arthralgia	3717	JAK2	ORPHA:729
HP:0002829	Arthralgia	9927	MFN2	ORPHA:2398
HP:0002829	Arthralgia	340061	STING1	OMIM:615934
HP:0002829	Arthralgia	7132	TNFRSF1A	OMIM:142680
HP:0002829	Arthralgia	7132	TNFRSF1A	ORPHA:329967
HP:0002829	Arthralgia	7132	TNFRSF1A	ORPHA:32960
HP:0002829	Arthralgia	84823	LMNB2	ORPHA:79087
HP:0002829	Arthralgia	3117	HLA-DQA1	OMIM:212750
HP:0002829	Arthralgia	3119	HLA-DQB1	OMIM:212750
HP:0002829	Arthralgia	83550	GPR101	ORPHA:963
HP:0002829	Arthralgia	83550	GPR101	OMIM:300942
HP:0002829	Arthralgia	9049	AIP	ORPHA:963
HP:0002829	Arthralgia	1277	COL1A1	ORPHA:287
HP:0002829	Arthralgia	1289	COL5A1	ORPHA:287
HP:0002829	Arthralgia	1290	COL5A2	ORPHA:287
HP:0002829	Arthralgia	1302	COL11A2	OMIM:184840
HP:0002829	Arthralgia	1302	COL11A2	OMIM:215150
HP:0002829	Arthralgia	1302	COL11A2	ORPHA:166100
HP:0002829	Arthralgia	1836	SLC26A2	OMIM:226900
HP:0002829	Arthralgia	1836	SLC26A2	ORPHA:93307
HP:0002829	Arthralgia	64127	NOD2	OMIM:617321
HP:0002829	Arthralgia	64127	NOD2	ORPHA:90340
HP:0002829	Arthralgia	58484	NLRC4	OMIM:616115
HP:0002829	Arthralgia	58484	NLRC4	OMIM:616050
HP:0002829	Arthralgia	2783	GNB2	OMIM:619503
HP:0002829	Arthralgia	4853	NOTCH2	ORPHA:955
HP:0002829	Arthralgia	5251	PHEX	ORPHA:89936
HP:0002829	Arthralgia	5251	PHEX	OMIM:307800
HP:0002829	Arthralgia	3043	HBB	ORPHA:231214
HP:0002829	Arthralgia	3043	HBB	ORPHA:231226
HP:0002829	Arthralgia	3043	HBB	ORPHA:251380
HP:0002829	Arthralgia	51604	PIGT	OMIM:615399
HP:0002829	Arthralgia	540	ATP7B	ORPHA:905
HP:0002829	Arthralgia	6804	STX1A	ORPHA:904
HP:0002829	Arthralgia	7461	CLIP2	ORPHA:904
HP:0002829	Arthralgia	84277	DNAJC30	ORPHA:904
HP:0002829	Arthralgia	8468	FKBP6	ORPHA:904
HP:0002829	Arthralgia	5982	RFC2	ORPHA:904
HP:0002829	Arthralgia	2969	GTF2I	ORPHA:904
HP:0002829	Arthralgia	3984	LIMK1	ORPHA:904
HP:0002829	Arthralgia	9569	GTF2IRD1	ORPHA:904
HP:0002829	Arthralgia	155382	VPS37D	ORPHA:904
HP:0002829	Arthralgia	155368	METTL27	ORPHA:904
HP:0002829	Arthralgia	114049	BUD23	ORPHA:904
HP:0002829	Arthralgia	7458	EIF4H	ORPHA:904
HP:0002829	Arthralgia	84163	GTF2IRD2	ORPHA:904
HP:0002829	Arthralgia	9275	BCL7B	ORPHA:904
HP:0002829	Arthralgia	26608	TBL2	ORPHA:904
HP:0002829	Arthralgia	653361	NCF1	ORPHA:904
HP:0002829	Arthralgia	135886	TMEM270	ORPHA:904
HP:0002829	Arthralgia	51085	MLXIPL	ORPHA:904
HP:0002829	Arthralgia	9031	BAZ1B	ORPHA:904
HP:0002829	Arthralgia	2006	ELN	ORPHA:904
HP:0002829	Arthralgia	1493	CTLA4	ORPHA:900
HP:0002829	Arthralgia	3115	HLA-DPB1	ORPHA:900
HP:0002829	Arthralgia	5657	PRTN3	ORPHA:900
HP:0002829	Arthralgia	3113	HLA-DPA1	ORPHA:900
HP:0002829	Arthralgia	51284	TLR7	OMIM:301080
HP:0002829	Arthralgia	1311	COMP	OMIM:177170
HP:0002829	Arthralgia	1311	COMP	ORPHA:750
HP:0002829	Arthralgia	715	C1R	OMIM:130080
HP:0002829	Arthralgia	8838	CCN6	ORPHA:1159
HP:0002829	Arthralgia	5336	PLCG2	OMIM:614878
HP:0002829	Arthralgia	3662	IRF4	ORPHA:3452
HP:0002829	Arthralgia	5692	PSMB4	OMIM:617591
HP:0002829	Arthralgia	5698	PSMB9	OMIM:617591
HP:0002829	Arthralgia	2157	F8	ORPHA:169805
HP:0002829	Arthralgia	2157	F8	ORPHA:169802
HP:0002829	Arthralgia	654	BMP6	ORPHA:465508
HP:0002829	Arthralgia	654	BMP6	OMIM:620121
HP:0002829	Arthralgia	3077	HFE	ORPHA:465508
HP:0002829	Arthralgia	4087	SMAD2	OMIM:619656
HP:0002829	Arthralgia	7415	VCP	ORPHA:329475
HP:0002829	Arthralgia	100151683	RNU4ATAC	ORPHA:1824
HP:0002829	Arthralgia	6583	SLC22A4	OMIM:180300
HP:0002829	Arthralgia	4261	CIITA	OMIM:180300
HP:0002829	Arthralgia	51744	CD244	OMIM:180300
HP:0002829	Arthralgia	4795	NFKBIL1	OMIM:180300
HP:0002829	Arthralgia	3586	IL10	OMIM:180300
HP:0002829	Arthralgia	3586	IL10	ORPHA:117
HP:0002829	Arthralgia	3514	IGKC	ORPHA:183675
HP:0002829	Arthralgia	3501	IGHG2	ORPHA:183675
HP:0002829	Arthralgia	64241	ABCG8	OMIM:210250
HP:0002829	Arthralgia	64241	ABCG8	ORPHA:391665
HP:0002829	Arthralgia	4313	MMP2	OMIM:259600
HP:0002829	Arthralgia	3081	HGD	ORPHA:56
HP:0002829	Arthralgia	3081	HGD	OMIM:203500
HP:0002829	Arthralgia	10801	SEPTIN9	ORPHA:2901
HP:0002829	Arthralgia	7227	TRPS1	OMIM:190350
HP:0002829	Arthralgia	6307	MSMO1	OMIM:616834
HP:0002829	Arthralgia	1188	CLCNKB	ORPHA:358
HP:0002829	Arthralgia	6559	SLC12A3	ORPHA:358
HP:0002829	Arthralgia	6559	SLC12A3	OMIM:263800
HP:0002829	Arthralgia	2068	ERCC2	ORPHA:910
HP:0002829	Arthralgia	7507	XPA	ORPHA:910
HP:0002829	Arthralgia	2071	ERCC3	ORPHA:910
HP:0002829	Arthralgia	7508	XPC	ORPHA:910
HP:0002829	Arthralgia	1643	DDB2	ORPHA:910
HP:0002829	Arthralgia	2072	ERCC4	ORPHA:910
HP:0002829	Arthralgia	2073	ERCC5	ORPHA:910
HP:0002829	Arthralgia	149233	IL23R	ORPHA:117
HP:0002829	Arthralgia	1230	CCR1	ORPHA:117
HP:0002829	Arthralgia	355	FAS	ORPHA:117
HP:0002829	Arthralgia	3592	IL12A	ORPHA:117
HP:0002829	Arthralgia	101928376	IL12A-AS1	ORPHA:117
HP:0002829	Arthralgia	7099	TLR4	ORPHA:117
HP:0002829	Arthralgia	3459	IFNGR1	ORPHA:117
HP:0002829	Arthralgia	720	C4A	ORPHA:117
HP:0002829	Arthralgia	337867	UBAC2	ORPHA:117
HP:0002829	Arthralgia	51752	ERAP1	ORPHA:117
HP:0002829	Arthralgia	8302	KLRC4	ORPHA:117
HP:0002829	Arthralgia	9663	LPIN2	OMIM:609628
HP:0002829	Arthralgia	9663	LPIN2	ORPHA:77297
HP:0002829	Arthralgia	23592	LEMD3	ORPHA:166119
HP:0002829	Arthralgia	23592	LEMD3	ORPHA:1306
HP:0002829	Arthralgia	6696	SPP1	ORPHA:93552
HP:0002829	Arthralgia	3654	IRAK1	ORPHA:93552
HP:0002829	Arthralgia	2057	EPOR	ORPHA:90042
HP:0002829	Arthralgia	411	ARSB	OMIM:253200
HP:0002829	Arthralgia	53335	BCL11A	ORPHA:251380
HP:0002829	Arthralgia	10661	KLF1	ORPHA:251380
HP:0002829	Arthralgia	3047	HBG1	ORPHA:251380
HP:0002829	Arthralgia	3048	HBG2	ORPHA:251380
HP:0002829	Arthralgia	7317	UBA1	OMIM:301054
HP:0002829	Arthralgia	4000	LMNA	ORPHA:90153
HP:0002829	Arthralgia	10651	MTX2	ORPHA:90153
HP:0002829	Arthralgia	3949	LDLR	ORPHA:391665
HP:0002829	Arthralgia	255738	PCSK9	ORPHA:391665
HP:0002829	Arthralgia	26119	LDLRAP1	ORPHA:391665
HP:0002829	Arthralgia	338	APOB	ORPHA:391665
HP:0002829	Arthralgia	64240	ABCG5	ORPHA:391665
HP:0002829	Arthralgia	427	ASAH1	ORPHA:333
HP:0002829	Arthralgia	427	ASAH1	OMIM:228000
HP:0002829	Arthralgia	4621	MYH3	OMIM:193700
HP:0002829	Arthralgia	3930	LBR	OMIM:613471
HP:0002829	Arthralgia	29940	DSE	OMIM:615539
HP:0002829	Arthralgia	2717	GLA	ORPHA:324
HP:0002829	Arthralgia	6578	SLCO2A1	ORPHA:2796
HP:0002829	Arthralgia	5745	PTH1R	ORPHA:79106
HP:0002829	Arthralgia	1301	COL11A1	ORPHA:560
HP:0002829	Arthralgia	23495	TNFRSF13B	ORPHA:1572
HP:0002829	Arthralgia	4790	NFKB1	ORPHA:1572
HP:0002829	Arthralgia	4791	NFKB2	ORPHA:1572
HP:0002829	Arthralgia	115650	TNFRSF13C	ORPHA:1572
HP:0002829	Arthralgia	1380	CR2	ORPHA:1572
HP:0002829	Arthralgia	8742	TNFSF12	ORPHA:1572
HP:0002829	Arthralgia	5580	PRKCD	ORPHA:1572
HP:0002829	Arthralgia	930	CD19	ORPHA:1572
HP:0002829	Arthralgia	29851	ICOS	ORPHA:1572
HP:0002829	Arthralgia	931	MS4A1	ORPHA:1572
HP:0002829	Arthralgia	975	CD81	ORPHA:1572
HP:0002829	Arthralgia	975	CD81	OMIM:613496
HP:0002829	Arthralgia	359948	IRF2BP2	ORPHA:1572
HP:0002829	Arthralgia	1499	CTNNB1	ORPHA:873
HP:0002829	Arthralgia	324	APC	ORPHA:873
HP:0002829	Arthralgia	6424	SFRP4	OMIM:265900
HP:0002829	Arthralgia	716	C1S	OMIM:617174
HP:0002829	Arthralgia	5167	ENPP1	ORPHA:51608
HP:0002829	Arthralgia	368	ABCC6	ORPHA:51608
HP:0002829	Arthralgia	55325	UFSP2	OMIM:617974
HP:0002829	Arthralgia	91461	PKDCC	OMIM:618821
HP:0002829	Arthralgia	7305	TYROBP	ORPHA:2770
HP:0002829	Arthralgia	65992	DDRGK1	ORPHA:93352
HP:0002829	Arthralgia	1314	COPA	OMIM:616414
HP:0002829	Arthralgia	51816	ADA2	OMIM:615688
HP:0002829	Arthralgia	3557	IL1RN	OMIM:612852
HP:0002829	Arthralgia	91662	NLRP12	OMIM:611762
HP:0002829	Arthralgia	4148	MATN3	OMIM:607078
HP:0002829	Arthralgia	50515	CHST11	OMIM:618167
HP:0002829	Arthralgia	51371	POMP	OMIM:618048
HP:0002829	Arthralgia	3593	IL12B	ORPHA:3287
HP:0002829	Arthralgia	6945	MLX	ORPHA:3287
HP:0002829	Arthralgia	11277	TREX1	OMIM:610448
HP:0002829	Arthralgia	6609	SMPD1	OMIM:607616
HP:0002829	Arthralgia	1604	CD55	OMIM:226300
HP:0002829	Arthralgia	118429	ANTXR2	OMIM:228600
HP:0002829	Arthralgia	2512	FTL	ORPHA:254704
HP:0002829	Arthralgia	9051	PSTPIP1	ORPHA:69126
HP:0002829	Arthralgia	1297	COL9A1	OMIM:614135
HP:0002829	Arthralgia	1235	CCR6	ORPHA:220393
HP:0002829	Arthralgia	1490	CCN2	ORPHA:220393
HP:0002829	Arthralgia	3663	IRF5	ORPHA:220393
HP:0002829	Arthralgia	857	CAV1	ORPHA:220393
HP:0002829	Arthralgia	9935	MAFB	OMIM:166300
HP:0002829	Arthralgia	5696	PSMB8	OMIM:256040
HP:0002829	Arthralgia	54829	ASPN	OMIM:607850
HP:0002829	Arthralgia	4982	TNFRSF11B	ORPHA:1416
HP:0002829	Arthralgia	56172	ANKH	ORPHA:1416
HP:0002829	Arthralgia	374654	KIF7	ORPHA:166024
HP:0008519	Abnormal coccyx morphology	59341	TRPV4	OMIM:156530
HP:0008519	Abnormal coccyx morphology	79633	FAT4	ORPHA:314679
HP:0008519	Abnormal coccyx morphology	8642	DCHS1	ORPHA:314679
HP:0008519	Abnormal coccyx morphology	6913	TBX15	OMIM:260660
HP:0008519	Abnormal coccyx morphology	10584	COLEC10	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	5648	MASP1	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	78989	COLEC11	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	6872	TAF1	OMIM:300966
HP:0008519	Abnormal coccyx morphology	285590	SH3PXD2B	OMIM:249420
HP:0002831	Long coccyx	59341	TRPV4	OMIM:156530
HP:0002832	Calcific stippling	5828	PEX2	OMIM:614866
HP:0002832	Calcific stippling	5830	PEX5	OMIM:214110
HP:0002832	Calcific stippling	10682	EBP	OMIM:302960
HP:0002832	Calcific stippling	3295	HSD17B4	OMIM:261515
HP:0002832	Calcific stippling	8443	GNPAT	OMIM:222765
HP:0002833	Cystic angiomatosis of bone	26580	BSCL2	OMIM:269700
HP:0002833	Cystic angiomatosis of bone	10555	AGPAT2	OMIM:608594
HP:0002834	Flared femoral metaphysis	1311	COMP	OMIM:177170
HP:0002834	Flared femoral metaphysis	59341	TRPV4	OMIM:156530
HP:0002834	Flared femoral metaphysis	2146	EZH2	OMIM:277590
HP:0002834	Flared femoral metaphysis	1302	COL11A2	ORPHA:1427
HP:0002835	Aspiration	23394	ADNP	ORPHA:404448
HP:0002835	Aspiration	8260	NAA10	OMIM:300855
HP:0002835	Aspiration	9782	MATR3	OMIM:606070
HP:0002835	Aspiration	9782	MATR3	ORPHA:600
HP:0002835	Aspiration	1387	CREBBP	ORPHA:353277
HP:0002835	Aspiration	2290	FOXG1	OMIM:613454
HP:0002835	Aspiration	23219	FBXO28	OMIM:619777
HP:0002835	Aspiration	2917	GRM7	OMIM:618922
HP:0002835	Aspiration	773	CACNA1A	ORPHA:2131
HP:0002835	Aspiration	6507	SLC1A3	ORPHA:2131
HP:0002835	Aspiration	477	ATP1A2	ORPHA:2131
HP:0002835	Aspiration	478	ATP1A3	ORPHA:2131
HP:0002835	Aspiration	9289	ADGRG1	ORPHA:98889
HP:0002835	Aspiration	5297	PI4KA	ORPHA:98889
HP:0002835	Aspiration	27286	SRPX2	ORPHA:98889
HP:0002835	Aspiration	29967	LRP12	OMIM:164310
HP:0002835	Aspiration	22845	DOLK	OMIM:610768
HP:0002835	Aspiration	3073	HEXA	OMIM:272800
HP:0002835	Aspiration	724066	ATXN8	ORPHA:98760
HP:0002835	Aspiration	6315	ATXN8OS	ORPHA:98760
HP:0002835	Aspiration	2887	GRB10	ORPHA:96182
HP:0002835	Aspiration	4281	MID1	OMIM:300000
HP:0002835	Aspiration	22872	SEC31A	OMIM:618651
HP:0002835	Aspiration	64801	ARV1	OMIM:617020
HP:0002835	Aspiration	667	DST	OMIM:614653
HP:0002835	Aspiration	1641	DCX	ORPHA:2148
HP:0002835	Aspiration	2741	GLRA1	OMIM:149400
HP:0002835	Aspiration	10243	GPHN	OMIM:149400
HP:0002835	Aspiration	2783	GNB2	OMIM:619503
HP:0002835	Aspiration	8449	DHX16	OMIM:618733
HP:0002835	Aspiration	2033	EP300	ORPHA:353284
HP:0002835	Aspiration	3908	LAMA2	ORPHA:258
HP:0002835	Aspiration	2760	GM2A	OMIM:272750
HP:0002836	Bladder exstrophy	9968	MED12	OMIM:301068
HP:0002836	Bladder exstrophy	3845	KRAS	OMIM:600268
HP:0002836	Bladder exstrophy	51733	UPB1	OMIM:613161
HP:0002836	Bladder exstrophy	1009	CDH11	ORPHA:1299
HP:0002836	Bladder exstrophy	5053	PAH	ORPHA:2209
HP:0002836	Bladder exstrophy	8626	TP63	ORPHA:93930
HP:0002836	Bladder exstrophy	3670	ISL1	ORPHA:93930
HP:0000021	Megacystis	4629	MYH11	OMIM:619350
HP:0000021	Megacystis	4629	MYH11	OMIM:619351
HP:0000021	Megacystis	4629	MYH11	ORPHA:2241
HP:0000021	Megacystis	72	ACTG2	OMIM:155310
HP:0000021	Megacystis	72	ACTG2	OMIM:619431
HP:0000021	Megacystis	72	ACTG2	ORPHA:2604
HP:0000021	Megacystis	72	ACTG2	ORPHA:2241
HP:0000021	Megacystis	25802	LMOD1	OMIM:619362
HP:0000021	Megacystis	25802	LMOD1	ORPHA:2241
HP:0000021	Megacystis	9860	LRIG2	OMIM:615112
HP:0000021	Megacystis	554	AVPR2	OMIM:304800
HP:0000021	Megacystis	10398	MYL9	OMIM:619365
HP:0000021	Megacystis	359	AQP2	OMIM:125800
HP:0000021	Megacystis	4638	MYLK	ORPHA:2241
HP:0000021	Megacystis	7080	NKX2-1	ORPHA:209905
HP:0000021	Megacystis	8626	TP63	OMIM:604292
HP:0002839	Urinary bladder sphincter dysfunction	9897	WASHC5	OMIM:603563
HP:0002839	Urinary bladder sphincter dysfunction	4287	ATXN3	OMIM:109150
HP:0002839	Urinary bladder sphincter dysfunction	51741	WWOX	ORPHA:284282
HP:0002839	Urinary bladder sphincter dysfunction	6683	SPAST	ORPHA:100985
HP:0002839	Urinary bladder sphincter dysfunction	6683	SPAST	OMIM:182601
HP:0002839	Urinary bladder sphincter dysfunction	215	ABCD1	ORPHA:139399
HP:0002839	Urinary bladder sphincter dysfunction	215	ABCD1	OMIM:300100
HP:0002839	Urinary bladder sphincter dysfunction	57165	GJC2	ORPHA:320401
HP:0002839	Urinary bladder sphincter dysfunction	23533	PIK3R5	ORPHA:64753
HP:0002839	Urinary bladder sphincter dysfunction	23064	SETX	ORPHA:64753
HP:0002839	Urinary bladder sphincter dysfunction	3329	HSPD1	OMIM:605280
HP:0002839	Urinary bladder sphincter dysfunction	3329	HSPD1	ORPHA:100994
HP:0002839	Urinary bladder sphincter dysfunction	1201	CLN3	ORPHA:228346
HP:0002839	Urinary bladder sphincter dysfunction	51062	ATL1	OMIM:182600
HP:0002839	Urinary bladder sphincter dysfunction	2332	FMR1	ORPHA:93256
HP:0002839	Urinary bladder sphincter dysfunction	2632	GBE1	ORPHA:206583
HP:0002839	Urinary bladder sphincter dysfunction	23503	ZFYVE26	OMIM:270700
HP:0002839	Urinary bladder sphincter dysfunction	123606	NIPA1	OMIM:600363
HP:0002839	Urinary bladder sphincter dysfunction	4312	MMP1	ORPHA:79408
HP:0002839	Urinary bladder sphincter dysfunction	1294	COL7A1	ORPHA:79408
HP:0002839	Urinary bladder sphincter dysfunction	6687	SPG7	OMIM:607259
HP:0002839	Urinary bladder sphincter dysfunction	51308	REEP2	ORPHA:401849
HP:0002839	Urinary bladder sphincter dysfunction	51308	REEP2	OMIM:615625
HP:0002839	Urinary bladder sphincter dysfunction	2670	GFAP	ORPHA:363722
HP:0002839	Urinary bladder sphincter dysfunction	6311	ATXN2	OMIM:183090
HP:0002839	Urinary bladder sphincter dysfunction	6253	RTN2	OMIM:604805
HP:0002839	Urinary bladder sphincter dysfunction	9907	AP5Z1	ORPHA:306511
HP:0002839	Urinary bladder sphincter dysfunction	547	KIF1A	OMIM:610357
HP:0002839	Urinary bladder sphincter dysfunction	3798	KIF5A	OMIM:604187
HP:0002839	Urinary bladder sphincter dysfunction	2395	FXN	ORPHA:95
HP:0002839	Urinary bladder sphincter dysfunction	6310	ATXN1	OMIM:164400
HP:0002839	Urinary bladder sphincter dysfunction	5376	PMP22	ORPHA:3115
HP:0002839	Urinary bladder sphincter dysfunction	4359	MPZ	ORPHA:3115
HP:0002839	Urinary bladder sphincter dysfunction	80208	SPG11	OMIM:604360
HP:0002839	Urinary bladder sphincter dysfunction	3178	HNRNPA1	ORPHA:52430
HP:0002839	Urinary bladder sphincter dysfunction	7415	VCP	ORPHA:52430
HP:0002839	Urinary bladder sphincter dysfunction	3181	HNRNPA2B1	ORPHA:52430
HP:0002840	Lymphadenitis	1536	CYBB	OMIM:306400
HP:0002840	Lymphadenitis	7852	CXCR4	ORPHA:51636
HP:0002840	Lymphadenitis	4615	MYD88	OMIM:612260
HP:0002840	Lymphadenitis	4688	NCF2	OMIM:233710
HP:0002840	Lymphadenitis	79415	CYBC1	OMIM:618935
HP:0002840	Lymphadenitis	4598	MVK	OMIM:260920
HP:0002840	Lymphadenitis	3394	IRF8	OMIM:614893
HP:0002840	Lymphadenitis	5896	RAG1	ORPHA:331206
HP:0002840	Lymphadenitis	5897	RAG2	ORPHA:331206
HP:0002840	Lymphadenitis	10616	RBCK1	OMIM:615895
HP:0002840	Lymphadenitis	6773	STAT2	OMIM:618886
HP:0002840	Lymphadenitis	5880	RAC2	OMIM:618986
HP:0002840	Lymphadenitis	653361	NCF1	OMIM:233700
HP:0002840	Lymphadenitis	1535	CYBA	OMIM:233690
HP:0002840	Lymphadenitis	7535	ZAP70	ORPHA:911
HP:0002840	Lymphadenitis	3594	IL12RB1	ORPHA:319552
HP:0002841	Recurrent fungal infections	4688	NCF2	OMIM:233710
HP:0002841	Recurrent fungal infections	6804	STX1A	ORPHA:586
HP:0002841	Recurrent fungal infections	2947	GSTM3	ORPHA:586
HP:0002841	Recurrent fungal infections	7040	TGFB1	ORPHA:586
HP:0002841	Recurrent fungal infections	2729	GCLC	ORPHA:586
HP:0002841	Recurrent fungal infections	1084	CEACAM3	ORPHA:586
HP:0002841	Recurrent fungal infections	6556	SLC11A1	ORPHA:586
HP:0002841	Recurrent fungal infections	51164	DCTN4	ORPHA:586
HP:0002841	Recurrent fungal infections	3783	KCNN4	ORPHA:586
HP:0002841	Recurrent fungal infections	4282	MIF	ORPHA:586
HP:0002841	Recurrent fungal infections	1909	EDNRA	ORPHA:586
HP:0002841	Recurrent fungal infections	6550	SLC9A3	ORPHA:586
HP:0002841	Recurrent fungal infections	3162	HMOX1	ORPHA:586
HP:0002841	Recurrent fungal infections	115019	SLC26A9	ORPHA:586
HP:0002841	Recurrent fungal infections	3077	HFE	ORPHA:586
HP:0002841	Recurrent fungal infections	11254	SLC6A14	ORPHA:586
HP:0002841	Recurrent fungal infections	5265	SERPINA1	ORPHA:586
HP:0002841	Recurrent fungal infections	1080	CFTR	ORPHA:586
HP:0002841	Recurrent fungal infections	22802	CLCA4	ORPHA:586
HP:0002841	Recurrent fungal infections	4680	CEACAM6	ORPHA:586
HP:0002841	Recurrent fungal infections	1536	CYBB	OMIM:306400
HP:0002841	Recurrent fungal infections	653361	NCF1	OMIM:233700
HP:0002841	Recurrent fungal infections	1535	CYBA	OMIM:233690
HP:0002841	Recurrent fungal infections	57724	EPG5	OMIM:242840
HP:0002841	Recurrent fungal infections	3689	ITGB2	OMIM:116920
HP:0002841	Recurrent fungal infections	10043	TOM1	ORPHA:391487
HP:0002841	Recurrent fungal infections	3572	IL6ST	OMIM:619752
HP:0002841	Recurrent fungal infections	100	ADA	OMIM:102700
HP:0002841	Recurrent fungal infections	84818	IL17RC	OMIM:616445
HP:0002841	Recurrent fungal infections	5238	PGM3	OMIM:615816
HP:0002841	Recurrent fungal infections	112744	IL17F	OMIM:613956
HP:0002841	Recurrent fungal infections	3431	SP110	ORPHA:79124
HP:0002841	Recurrent fungal infections	6720	SREBF1	OMIM:158310
HP:0002841	Recurrent fungal infections	6774	STAT3	OMIM:147060
HP:0002841	Recurrent fungal infections	146206	CARMIL2	OMIM:618131
HP:0002841	Recurrent fungal infections	5896	RAG1	OMIM:603554
HP:0002841	Recurrent fungal infections	5896	RAG1	ORPHA:331206
HP:0002841	Recurrent fungal infections	5897	RAG2	OMIM:603554
HP:0002841	Recurrent fungal infections	5897	RAG2	ORPHA:331206
HP:0002841	Recurrent fungal infections	2624	GATA2	OMIM:614172
HP:0002841	Recurrent fungal infections	50619	DEF6	OMIM:619573
HP:0002841	Recurrent fungal infections	10320	IKZF1	OMIM:616873
HP:0002841	Recurrent fungal infections	7297	TYK2	OMIM:611521
HP:0002841	Recurrent fungal infections	6789	STK4	OMIM:614868
HP:0002841	Recurrent fungal infections	7535	ZAP70	OMIM:269840
HP:0002841	Recurrent fungal infections	10804	GJB6	ORPHA:477
HP:0002841	Recurrent fungal infections	2706	GJB2	ORPHA:477
HP:0002841	Recurrent fungal infections	3575	IL7R	ORPHA:169154
HP:0002841	Recurrent fungal infections	915	CD3D	ORPHA:169160
HP:0002841	Recurrent fungal infections	916	CD3E	ORPHA:169160
HP:0002841	Recurrent fungal infections	919	CD247	ORPHA:169160
HP:0002841	Recurrent fungal infections	919	CD247	OMIM:610163
HP:0002841	Recurrent fungal infections	5994	RFXAP	ORPHA:572
HP:0002841	Recurrent fungal infections	4261	CIITA	ORPHA:572
HP:0002841	Recurrent fungal infections	5993	RFX5	ORPHA:572
HP:0002841	Recurrent fungal infections	8625	RFXANK	ORPHA:572
HP:0002841	Recurrent fungal infections	55630	SLC39A4	OMIM:201100
HP:0002841	Recurrent fungal infections	9841	ZBTB24	OMIM:614069
HP:0002841	Recurrent fungal infections	686	BTD	ORPHA:79241
HP:0002841	Recurrent fungal infections	3594	IL12RB1	ORPHA:319552
HP:0002841	Recurrent fungal infections	81704	DOCK8	ORPHA:217390
HP:0002841	Recurrent fungal infections	64170	CARD9	OMIM:212050
HP:0002841	Recurrent fungal infections	84905	ZNF341	OMIM:618282
HP:0002841	Recurrent fungal infections	64421	DCLRE1C	ORPHA:275
HP:0002841	Recurrent fungal infections	3551	IKBKB	OMIM:615592
HP:0002841	Recurrent fungal infections	6772	STAT1	OMIM:614162
HP:0002841	Recurrent fungal infections	326	AIRE	OMIM:240300
HP:0002841	Recurrent fungal infections	7037	TFRC	OMIM:616740
HP:0002841	Recurrent fungal infections	4598	MVK	OMIM:260920
HP:0002841	Recurrent fungal infections	3932	LCK	OMIM:615758
HP:0002841	Recurrent fungal infections	959	CD40LG	OMIM:308230
HP:0002841	Recurrent fungal infections	5293	PIK3CD	ORPHA:221139
HP:0002841	Recurrent fungal infections	90417	KNSTRN	ORPHA:221139
HP:0002841	Recurrent fungal infections	8546	AP3B1	OMIM:608233
HP:0002841	Recurrent fungal infections	51311	TLR8	OMIM:301078
HP:0002841	Recurrent fungal infections	9948	WDR1	OMIM:150550
HP:0002841	Recurrent fungal infections	28755	TRAC	OMIM:615387
HP:0002841	Recurrent fungal infections	11151	CORO1A	OMIM:615401
HP:0002841	Recurrent fungal infections	1794	DOCK2	OMIM:616433
HP:0002841	Recurrent fungal infections	10758	TRAF3IP2	OMIM:615527
HP:0002841	Recurrent fungal infections	917	CD3G	OMIM:615607
HP:0002841	Recurrent fungal infections	3559	IL2RA	OMIM:606367
HP:0002841	Recurrent fungal infections	3718	JAK3	ORPHA:35078
HP:0002841	Recurrent fungal infections	6097	RORC	OMIM:616622
HP:0002841	Recurrent fungal infections	3561	IL2RG	ORPHA:276
HP:0002841	Recurrent fungal infections	84196	USP48	ORPHA:96253
HP:0002841	Recurrent fungal infections	7157	TP53	ORPHA:96253
HP:0002841	Recurrent fungal infections	9101	USP8	ORPHA:96253
HP:0002841	Recurrent fungal infections	64072	CDH23	ORPHA:96253
HP:0002841	Recurrent fungal infections	2908	NR3C1	ORPHA:96253
HP:0002841	Recurrent fungal infections	673	BRAF	ORPHA:96253
HP:0002841	Recurrent fungal infections	546	ATRX	ORPHA:96253
HP:0002841	Recurrent fungal infections	23765	IL17RA	OMIM:613953
HP:0002841	Recurrent fungal infections	23534	TNPO3	ORPHA:186
HP:0002841	Recurrent fungal infections	3592	IL12A	ORPHA:186
HP:0002841	Recurrent fungal infections	6689	SPIB	ORPHA:186
HP:0002841	Recurrent fungal infections	5450	POU2AF1	ORPHA:186
HP:0002841	Recurrent fungal infections	9966	TNFSF15	ORPHA:186
HP:0002841	Recurrent fungal infections	79258	MMEL1	ORPHA:186
HP:0002841	Recurrent fungal infections	3663	IRF5	ORPHA:186
HP:0002841	Recurrent fungal infections	121214	SDR9C7	OMIM:617574
HP:0002841	Recurrent fungal infections	3848	KRT1	ORPHA:530838
HP:0002841	Recurrent fungal infections	4791	NFKB2	OMIM:615577
HP:0002841	Recurrent fungal infections	79415	CYBC1	OMIM:618935
HP:0002841	Recurrent fungal infections	545	ATR	OMIM:614564
HP:0002841	Recurrent fungal infections	3248	HPGD	ORPHA:217059
HP:0002841	Recurrent fungal infections	5336	PLCG2	OMIM:614468
HP:0002841	Recurrent fungal infections	64581	CLEC7A	OMIM:613108
HP:0002842	Recurrent Burkholderia cepacia infections	4688	NCF2	OMIM:233710
HP:0002842	Recurrent Burkholderia cepacia infections	6804	STX1A	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	2947	GSTM3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	7040	TGFB1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	2729	GCLC	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1084	CEACAM3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	6556	SLC11A1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	51164	DCTN4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3783	KCNN4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	4282	MIF	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1909	EDNRA	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	6550	SLC9A3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3162	HMOX1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	115019	SLC26A9	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3077	HFE	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	11254	SLC6A14	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	5265	SERPINA1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1080	CFTR	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	22802	CLCA4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	4680	CEACAM6	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1536	CYBB	OMIM:306400
HP:0002842	Recurrent Burkholderia cepacia infections	653361	NCF1	OMIM:233700
HP:0002842	Recurrent Burkholderia cepacia infections	1535	CYBA	OMIM:233690
HP:0005435	Impaired T cell function	7372	UMPS	ORPHA:30
HP:0005435	Impaired T cell function	7372	UMPS	OMIM:258900
HP:0005435	Impaired T cell function	6899	TBX1	OMIM:188400
HP:0005435	Impaired T cell function	6899	TBX1	OMIM:192430
HP:0005435	Impaired T cell function	6899	TBX1	ORPHA:567
HP:0005435	Impaired T cell function	23495	TNFRSF13B	OMIM:240500
HP:0005435	Impaired T cell function	115650	TNFRSF13C	OMIM:240500
HP:0005435	Impaired T cell function	1380	CR2	OMIM:240500
HP:0005435	Impaired T cell function	29851	ICOS	OMIM:240500
HP:0005435	Impaired T cell function	29851	ICOS	OMIM:607594
HP:0005435	Impaired T cell function	930	CD19	OMIM:240500
HP:0005435	Impaired T cell function	55630	SLC39A4	OMIM:201100
HP:0005435	Impaired T cell function	204	AK2	OMIM:267500
HP:0005435	Impaired T cell function	57511	COG6	OMIM:614576
HP:0005435	Impaired T cell function	50485	SMARCAL1	ORPHA:1830
HP:0005435	Impaired T cell function	4860	PNP	OMIM:613179
HP:0005435	Impaired T cell function	9993	DGCR2	OMIM:192430
HP:0005435	Impaired T cell function	8220	ESS2	OMIM:192430
HP:0005435	Impaired T cell function	8214	DGCR6	OMIM:192430
HP:0005435	Impaired T cell function	54487	DGCR8	OMIM:192430
HP:0005435	Impaired T cell function	1312	COMT	ORPHA:567
HP:0005435	Impaired T cell function	221037	JMJD1C	ORPHA:567
HP:0005435	Impaired T cell function	2812	GP1BB	ORPHA:567
HP:0005435	Impaired T cell function	6239	RREB1	ORPHA:567
HP:0005435	Impaired T cell function	7290	HIRA	ORPHA:567
HP:0005435	Impaired T cell function	9632	SEC24C	ORPHA:567
HP:0005435	Impaired T cell function	7353	UFD1	ORPHA:567
HP:0005435	Impaired T cell function	421	ARVCF	ORPHA:567
HP:0005435	Impaired T cell function	57591	MRTFA	OMIM:618847
HP:0005435	Impaired T cell function	1503	CTPS1	OMIM:615897
HP:0005435	Impaired T cell function	10125	RASGRP1	OMIM:618534
HP:0005435	Impaired T cell function	916	CD3E	OMIM:615615
HP:0005435	Impaired T cell function	3978	LIG1	OMIM:619774
HP:0005435	Impaired T cell function	7040	TGFB1	OMIM:618213
HP:0005435	Impaired T cell function	7456	WIPF1	OMIM:614493
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	843	CASP10	OMIM:603909
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	843	CASP10	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	355	FAS	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	355	FAS	OMIM:601859
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	356	FASLG	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	356	FASLG	OMIM:601859
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5580	PRKCD	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	10125	RASGRP1	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5294	PIK3CG	OMIM:619802
HP:0002846	Abnormal B cell morphology	916	CD3E	OMIM:615615
HP:0002846	Abnormal B cell morphology	3070	HELLS	OMIM:616911
HP:0002846	Abnormal B cell morphology	83879	CDCA7	OMIM:616910
HP:0002846	Abnormal B cell morphology	917	CD3G	OMIM:615607
HP:0002846	Abnormal B cell morphology	6909	TBX2	OMIM:618223
HP:0002846	Abnormal B cell morphology	915	CD3D	OMIM:615617
HP:0002846	Abnormal B cell morphology	100	ADA	OMIM:102700
HP:0002846	Abnormal B cell morphology	64421	DCLRE1C	OMIM:603554
HP:0002846	Abnormal B cell morphology	5896	RAG1	OMIM:603554
HP:0002846	Abnormal B cell morphology	5897	RAG2	OMIM:603554
HP:0002846	Abnormal B cell morphology	5557	PRIM1	OMIM:620005
HP:0002846	Abnormal B cell morphology	4791	NFKB2	ORPHA:293978
HP:0002846	Abnormal B cell morphology	5788	PTPRC	OMIM:619924
HP:0002846	Abnormal B cell morphology	843	CASP10	OMIM:603909
HP:0002846	Abnormal B cell morphology	843	CASP10	ORPHA:3261
HP:0002846	Abnormal B cell morphology	355	FAS	ORPHA:3261
HP:0002846	Abnormal B cell morphology	356	FASLG	ORPHA:3261
HP:0002846	Abnormal B cell morphology	3071	NCKAP1L	OMIM:618982
HP:0002846	Abnormal B cell morphology	84433	CARD11	OMIM:616452
HP:0002846	Abnormal B cell morphology	7535	ZAP70	OMIM:269840
HP:0002846	Abnormal B cell morphology	975	CD81	OMIM:613496
HP:0002846	Abnormal B cell morphology	64170	CARD9	OMIM:212050
HP:0002846	Abnormal B cell morphology	472	ATM	OMIM:208900
HP:0002846	Abnormal B cell morphology	3561	IL2RG	OMIM:312863
HP:0002846	Abnormal B cell morphology	51135	IRAK4	OMIM:607676
HP:0002846	Abnormal B cell morphology	331	XIAP	OMIM:308240
HP:0002846	Abnormal B cell morphology	4068	SH2D1A	OMIM:308240
HP:0002846	Abnormal B cell morphology	931	MS4A1	OMIM:613495
HP:0002846	Abnormal B cell morphology	6772	STAT1	ORPHA:391487
HP:0002846	Abnormal B cell morphology	695	BTK	OMIM:300755
HP:0002846	Abnormal B cell morphology	55388	MCM10	OMIM:619313
HP:0002846	Abnormal B cell morphology	51095	TRNT1	OMIM:616084
HP:0002846	Abnormal B cell morphology	4683	NBN	OMIM:251260
HP:0002846	Abnormal B cell morphology	9841	ZBTB24	OMIM:614069
HP:0002846	Abnormal B cell morphology	5880	RAC2	OMIM:618986
HP:0002846	Abnormal B cell morphology	5880	RAC2	OMIM:618987
HP:0002846	Abnormal B cell morphology	22806	IKZF3	OMIM:619437
HP:0002846	Abnormal B cell morphology	8737	RIPK1	OMIM:618108
HP:0002846	Abnormal B cell morphology	8517	IKBKG	OMIM:301081
HP:0002846	Abnormal B cell morphology	54440	SASH3	OMIM:301082
HP:0002846	Abnormal B cell morphology	9094	UNC119	OMIM:615518
HP:0002846	Abnormal B cell morphology	90417	KNSTRN	ORPHA:221139
HP:0002846	Abnormal B cell morphology	3507	IGHM	OMIM:601495
HP:0002846	Abnormal B cell morphology	114803	MYSM1	ORPHA:508542
HP:0002846	Abnormal B cell morphology	9948	WDR1	OMIM:150550
HP:0002846	Abnormal B cell morphology	23149	FCHO1	OMIM:619164
HP:0002846	Abnormal B cell morphology	974	CD79B	OMIM:612692
HP:0002846	Abnormal B cell morphology	5591	PRKDC	OMIM:615966
HP:0002846	Abnormal B cell morphology	2672	GFI1	OMIM:613107
HP:0002846	Abnormal B cell morphology	3718	JAK3	ORPHA:35078
HP:0002846	Abnormal B cell morphology	79840	NHEJ1	ORPHA:169079
HP:0002846	Abnormal B cell morphology	23250	ATP11A	OMIM:619851
HP:0002846	Abnormal B cell morphology	4615	MYD88	OMIM:612260
HP:0002846	Abnormal B cell morphology	6929	TCF3	OMIM:616941
HP:0002846	Abnormal B cell morphology	6929	TCF3	OMIM:619824
HP:0002846	Abnormal B cell morphology	10625	IVNS1ABP	OMIM:618969
HP:0002846	Abnormal B cell morphology	79087	ALG12	ORPHA:79324
HP:0002846	Abnormal B cell morphology	51311	TLR8	OMIM:301078
HP:0002846	Abnormal B cell morphology	6850	SYK	OMIM:619381
HP:0002846	Abnormal B cell morphology	2624	GATA2	OMIM:614172
HP:0002846	Abnormal B cell morphology	567	B2M	OMIM:241600
HP:0002846	Abnormal B cell morphology	10320	IKZF1	OMIM:616873
HP:0002846	Abnormal B cell morphology	64858	DCLRE1B	OMIM:620133
HP:0002846	Abnormal B cell morphology	3559	IL2RA	OMIM:606367
HP:0002846	Abnormal B cell morphology	81704	DOCK8	ORPHA:217390
HP:0002846	Abnormal B cell morphology	6688	SPI1	OMIM:619707
HP:0002846	Abnormal B cell morphology	973	CD79A	OMIM:613501
HP:0002846	Abnormal B cell morphology	3543	IGLL1	OMIM:613500
HP:0002846	Abnormal B cell morphology	7922	SLC39A7	OMIM:619693
HP:0002846	Abnormal B cell morphology	1503	CTPS1	OMIM:615897
HP:0002846	Abnormal B cell morphology	5580	PRKCD	OMIM:615559
HP:0002846	Abnormal B cell morphology	2000	ELF4	OMIM:301074
HP:0002846	Abnormal B cell morphology	3551	IKBKB	OMIM:618204
HP:0002846	Abnormal B cell morphology	9138	ARHGEF1	OMIM:618459
HP:0002846	Abnormal B cell morphology	10043	TOM1	OMIM:619510
HP:0002846	Abnormal B cell morphology	51371	POMP	OMIM:618048
HP:0002846	Abnormal B cell morphology	3431	SP110	ORPHA:79124
HP:0002846	Abnormal B cell morphology	60468	BACH2	OMIM:618394
HP:0002846	Abnormal B cell morphology	5295	PIK3R1	OMIM:616005
HP:0002846	Abnormal B cell morphology	5293	PIK3CD	OMIM:615513
HP:0002846	Abnormal B cell morphology	8651	SOCS1	OMIM:619375
HP:0002846	Abnormal B cell morphology	5966	REL	OMIM:619652
HP:0002846	Abnormal B cell morphology	54790	TET2	OMIM:619126
HP:0002846	Abnormal B cell morphology	930	CD19	OMIM:613493
HP:0002846	Abnormal B cell morphology	3937	LCP2	OMIM:619374
HP:0002846	Abnormal B cell morphology	10525	HYOU1	OMIM:233600
HP:0002846	Abnormal B cell morphology	96459	FNIP1	OMIM:619705
HP:0002846	Abnormal B cell morphology	359948	IRF2BP2	OMIM:617765
HP:0002846	Abnormal B cell morphology	5336	PLCG2	OMIM:614878
HP:0002846	Abnormal B cell morphology	3570	IL6R	OMIM:618944
HP:0002846	Abnormal B cell morphology	987	LRBA	OMIM:614700
HP:0002846	Abnormal B cell morphology	59067	IL21	OMIM:615767
HP:0002846	Abnormal B cell morphology	56259	CTNNBL1	OMIM:619846
HP:0002846	Abnormal B cell morphology	29851	ICOS	OMIM:607594
HP:0002846	Abnormal B cell morphology	10125	RASGRP1	OMIM:618534
HP:0002847	Impaired memory B cell generation	958	CD40	OMIM:606843
HP:0002847	Impaired memory B cell generation	959	CD40LG	OMIM:308230
HP:0002848	Decreased specific anti-polysaccharide antibody level	57511	COG6	OMIM:614576
HP:0002848	Decreased specific anti-polysaccharide antibody level	355	FAS	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	356	FASLG	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	5580	PRKCD	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	843	CASP10	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	10125	RASGRP1	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	7454	WAS	OMIM:301000
HP:0002848	Decreased specific anti-polysaccharide antibody level	84061	MAGT1	OMIM:300853
HP:0002848	Decreased specific anti-polysaccharide antibody level	3559	IL2RA	OMIM:606367
HP:0002849	Absence of lymph node germinal center	100	ADA	ORPHA:277
HP:0002849	Absence of lymph node germinal center	5788	PTPRC	OMIM:619924
HP:0002849	Absence of lymph node germinal center	958	CD40	OMIM:606843
HP:0002849	Absence of lymph node germinal center	3431	SP110	OMIM:235550
HP:0002849	Absence of lymph node germinal center	3431	SP110	ORPHA:79124
HP:0002849	Absence of lymph node germinal center	2050	EPHB4	ORPHA:90186
HP:0002849	Absence of lymph node germinal center	959	CD40LG	OMIM:308230
HP:0002850	Decreased circulating total IgM	2137	EXTL3	ORPHA:508533
HP:0002850	Decreased circulating total IgM	30011	SH3KBP1	OMIM:300310
HP:0002850	Decreased circulating total IgM	355	FAS	ORPHA:3261
HP:0002850	Decreased circulating total IgM	356	FASLG	ORPHA:3261
HP:0002850	Decreased circulating total IgM	5580	PRKCD	ORPHA:3261
HP:0002850	Decreased circulating total IgM	843	CASP10	ORPHA:3261
HP:0002850	Decreased circulating total IgM	10125	RASGRP1	ORPHA:3261
HP:0002850	Decreased circulating total IgM	7454	WAS	OMIM:301000
HP:0002850	Decreased circulating total IgM	695	BTK	OMIM:300755
HP:0002850	Decreased circulating total IgM	10043	TOM1	OMIM:619510
HP:0002850	Decreased circulating total IgM	3572	IL6ST	OMIM:619752
HP:0002850	Decreased circulating total IgM	930	CD19	OMIM:613493
HP:0002850	Decreased circulating total IgM	930	CD19	OMIM:240500
HP:0002850	Decreased circulating total IgM	8517	IKBKG	OMIM:300636
HP:0002850	Decreased circulating total IgM	8517	IKBKG	OMIM:301081
HP:0002850	Decreased circulating total IgM	115650	TNFRSF13C	OMIM:613494
HP:0002850	Decreased circulating total IgM	115650	TNFRSF13C	OMIM:240500
HP:0002850	Decreased circulating total IgM	51604	PIGT	ORPHA:369837
HP:0002850	Decreased circulating total IgM	9841	ZBTB24	OMIM:614069
HP:0002850	Decreased circulating total IgM	3932	LCK	OMIM:615758
HP:0002850	Decreased circulating total IgM	5880	RAC2	OMIM:618987
HP:0002850	Decreased circulating total IgM	6948	TCN2	OMIM:275350
HP:0002850	Decreased circulating total IgM	6948	TCN2	ORPHA:859
HP:0002850	Decreased circulating total IgM	3570	IL6R	OMIM:618944
HP:0002850	Decreased circulating total IgM	987	LRBA	OMIM:614700
HP:0002850	Decreased circulating total IgM	54440	SASH3	OMIM:301082
HP:0002850	Decreased circulating total IgM	5293	PIK3CD	ORPHA:221139
HP:0002850	Decreased circulating total IgM	5293	PIK3CD	OMIM:619281
HP:0002850	Decreased circulating total IgM	90417	KNSTRN	ORPHA:221139
HP:0002850	Decreased circulating total IgM	7555	CNBP	OMIM:602668
HP:0002850	Decreased circulating total IgM	3561	IL2RG	OMIM:300400
HP:0002850	Decreased circulating total IgM	60468	BACH2	OMIM:618394
HP:0002850	Decreased circulating total IgM	84433	CARD11	OMIM:616452
HP:0002850	Decreased circulating total IgM	84433	CARD11	OMIM:617638
HP:0002850	Decreased circulating total IgM	974	CD79B	OMIM:612692
HP:0002850	Decreased circulating total IgM	5788	PTPRC	OMIM:619924
HP:0002850	Decreased circulating total IgM	641	BLM	OMIM:210900
HP:0002850	Decreased circulating total IgM	641	BLM	ORPHA:125
HP:0002850	Decreased circulating total IgM	841	CASP8	OMIM:607271
HP:0002850	Decreased circulating total IgM	3543	IGLL1	OMIM:613500
HP:0002850	Decreased circulating total IgM	5336	PLCG2	OMIM:614878
HP:0002850	Decreased circulating total IgM	29760	BLNK	OMIM:613502
HP:0002850	Decreased circulating total IgM	5294	PIK3CG	OMIM:619802
HP:0002850	Decreased circulating total IgM	28956	LAMTOR2	OMIM:610798
HP:0002850	Decreased circulating total IgM	7841	MOGS	ORPHA:79330
HP:0002850	Decreased circulating total IgM	3718	JAK3	ORPHA:35078
HP:0002850	Decreased circulating total IgM	29851	ICOS	OMIM:607594
HP:0002850	Decreased circulating total IgM	29851	ICOS	OMIM:240500
HP:0002850	Decreased circulating total IgM	7298	TYMS	OMIM:620040
HP:0002850	Decreased circulating total IgM	23387	SIK3	OMIM:618162
HP:0002850	Decreased circulating total IgM	51816	ADA2	OMIM:182410
HP:0002850	Decreased circulating total IgM	23495	TNFRSF13B	OMIM:240500
HP:0002850	Decreased circulating total IgM	1380	CR2	OMIM:240500
HP:0002850	Decreased circulating total IgM	3978	LIG1	OMIM:619774
HP:0002850	Decreased circulating total IgM	537	ATP6AP1	OMIM:300972
HP:0002850	Decreased circulating total IgM	1493	CTLA4	OMIM:616100
HP:0002850	Decreased circulating total IgM	4791	NFKB2	OMIM:615577
HP:0002850	Decreased circulating total IgM	100	ADA	OMIM:102700
HP:0002850	Decreased circulating total IgM	10625	IVNS1ABP	OMIM:618969
HP:0002850	Decreased circulating total IgM	5896	RAG1	ORPHA:331206
HP:0002850	Decreased circulating total IgM	5897	RAG2	ORPHA:331206
HP:0002850	Decreased circulating total IgM	8792	TNFRSF11A	OMIM:612301
HP:0002850	Decreased circulating total IgM	5426	POLE	OMIM:615139
HP:0002850	Decreased circulating total IgM	5557	PRIM1	OMIM:620005
HP:0002850	Decreased circulating total IgM	3514	IGKC	ORPHA:183675
HP:0002850	Decreased circulating total IgM	3501	IGHG2	ORPHA:183675
HP:0002850	Decreased circulating total IgM	79087	ALG12	OMIM:607143
HP:0002850	Decreased circulating total IgM	6850	SYK	OMIM:619381
HP:0002850	Decreased circulating total IgM	81704	DOCK8	OMIM:243700
HP:0002850	Decreased circulating total IgM	96459	FNIP1	OMIM:619705
HP:0002850	Decreased circulating total IgM	359948	IRF2BP2	OMIM:617765
HP:0002850	Decreased circulating total IgM	6688	SPI1	OMIM:619707
HP:0002850	Decreased circulating total IgM	6773	STAT2	OMIM:616636
HP:0002850	Decreased circulating total IgM	9138	ARHGEF1	OMIM:618459
HP:0002850	Decreased circulating total IgM	6929	TCF3	OMIM:619824
HP:0002850	Decreased circulating total IgM	8883	NAE1	OMIM:620210
HP:0002850	Decreased circulating total IgM	165918	RNF168	ORPHA:420741
HP:0010702	Increased circulating antibody level	100	ADA	ORPHA:277
HP:0010702	Increased circulating antibody level	100	ADA	OMIM:102700
HP:0010702	Increased circulating antibody level	2137	EXTL3	ORPHA:508533
HP:0010702	Increased circulating antibody level	64170	CARD9	OMIM:212050
HP:0010702	Increased circulating antibody level	355	FAS	ORPHA:3261
HP:0010702	Increased circulating antibody level	356	FASLG	ORPHA:3261
HP:0010702	Increased circulating antibody level	5580	PRKCD	ORPHA:3261
HP:0010702	Increased circulating antibody level	843	CASP10	ORPHA:3261
HP:0010702	Increased circulating antibody level	10125	RASGRP1	ORPHA:3261
HP:0010702	Increased circulating antibody level	7454	WAS	OMIM:301000
HP:0010702	Increased circulating antibody level	7454	WAS	OMIM:313900
HP:0010702	Increased circulating antibody level	3071	NCKAP1L	OMIM:618982
HP:0010702	Increased circulating antibody level	3572	IL6ST	OMIM:619752
HP:0010702	Increased circulating antibody level	3572	IL6ST	OMIM:618523
HP:0010702	Increased circulating antibody level	29775	CARD10	OMIM:619632
HP:0010702	Increased circulating antibody level	10526	IPO8	OMIM:619472
HP:0010702	Increased circulating antibody level	1041	CDSN	ORPHA:90368
HP:0010702	Increased circulating antibody level	1041	CDSN	OMIM:270300
HP:0010702	Increased circulating antibody level	121391	KRT74	ORPHA:90368
HP:0010702	Increased circulating antibody level	6777	STAT5B	OMIM:618985
HP:0010702	Increased circulating antibody level	5238	PGM3	ORPHA:443811
HP:0010702	Increased circulating antibody level	5238	PGM3	OMIM:615816
HP:0010702	Increased circulating antibody level	3570	IL6R	OMIM:618944
HP:0010702	Increased circulating antibody level	50943	FOXP3	OMIM:304790
HP:0010702	Increased circulating antibody level	50943	FOXP3	ORPHA:37042
HP:0010702	Increased circulating antibody level	3857	KRT9	OMIM:144200
HP:0010702	Increased circulating antibody level	3575	IL7R	ORPHA:169154
HP:0010702	Increased circulating antibody level	6774	STAT3	OMIM:147060
HP:0010702	Increased circulating antibody level	6774	STAT3	ORPHA:2314
HP:0010702	Increased circulating antibody level	1294	COL7A1	ORPHA:89843
HP:0010702	Increased circulating antibody level	11005	SPINK5	OMIM:256500
HP:0010702	Increased circulating antibody level	11005	SPINK5	ORPHA:634
HP:0010702	Increased circulating antibody level	7297	TYK2	OMIM:611521
HP:0010702	Increased circulating antibody level	59067	IL21	OMIM:615767
HP:0010702	Increased circulating antibody level	51135	IRAK4	OMIM:607676
HP:0010702	Increased circulating antibody level	84905	ZNF341	OMIM:618282
HP:0010702	Increased circulating antibody level	2239	GPC4	ORPHA:373
HP:0010702	Increased circulating antibody level	2719	GPC3	ORPHA:373
HP:0010702	Increased circulating antibody level	7941	PLA2G7	OMIM:147050
HP:0010702	Increased circulating antibody level	50615	IL21R	OMIM:147050
HP:0010702	Increased circulating antibody level	3566	IL4R	OMIM:147050
HP:0010702	Increased circulating antibody level	2206	MS4A2	OMIM:147050
HP:0010702	Increased circulating antibody level	1956	EGFR	OMIM:616069
HP:0010702	Increased circulating antibody level	919	CD247	OMIM:610163
HP:0010702	Increased circulating antibody level	84433	CARD11	OMIM:617638
HP:0010702	Increased circulating antibody level	6868	ADAM17	OMIM:614328
HP:0010702	Increased circulating antibody level	64421	DCLRE1C	OMIM:602450
HP:0010702	Increased circulating antibody level	81704	DOCK8	OMIM:243700
HP:0010702	Increased circulating antibody level	81704	DOCK8	ORPHA:217390
HP:0010702	Increased circulating antibody level	56160	NSMCE3	OMIM:617241
HP:0010702	Increased circulating antibody level	7040	TGFB1	OMIM:618213
HP:0010702	Increased circulating antibody level	1828	DSG1	OMIM:615508
HP:0010702	Increased circulating antibody level	3559	IL2RA	OMIM:606367
HP:0010702	Increased circulating antibody level	3561	IL2RG	ORPHA:276
HP:0010702	Increased circulating antibody level	3560	IL2RB	OMIM:618495
HP:0010702	Increased circulating antibody level	51371	POMP	OMIM:618048
HP:0010702	Increased circulating antibody level	340061	STING1	OMIM:615934
HP:0010702	Increased circulating antibody level	404672	GTF2H5	OMIM:616395
HP:0010702	Increased circulating antibody level	22861	NLRP1	OMIM:617388
HP:0010702	Increased circulating antibody level	2859	GPR35	ORPHA:171
HP:0010702	Increased circulating antibody level	10507	SEMA4D	ORPHA:171
HP:0010702	Increased circulating antibody level	4485	MST1	ORPHA:171
HP:0010702	Increased circulating antibody level	6925	TCF4	ORPHA:171
HP:0010702	Increased circulating antibody level	200942	KLHDC8B	OMIM:236000
HP:0010702	Increased circulating antibody level	1789	DNMT3B	OMIM:242860
HP:0010702	Increased circulating antibody level	65082	VPS33A	ORPHA:505248
HP:0010702	Increased circulating antibody level	65082	VPS33A	OMIM:617303
HP:0010702	Increased circulating antibody level	90268	OTULIN	OMIM:617099
HP:0010702	Increased circulating antibody level	5295	PIK3R1	OMIM:616005
HP:0010702	Increased circulating antibody level	5293	PIK3CD	OMIM:615513
HP:0010702	Increased circulating antibody level	959	CD40LG	OMIM:308230
HP:0010702	Increased circulating antibody level	8517	IKBKG	OMIM:300291
HP:0010702	Increased circulating antibody level	57379	AICDA	OMIM:605258
HP:0010702	Increased circulating antibody level	7374	UNG	OMIM:608106
HP:0010702	Increased circulating antibody level	958	CD40	OMIM:606843
HP:0010702	Increased circulating antibody level	3594	IL12RB1	ORPHA:186
HP:0010702	Increased circulating antibody level	23534	TNPO3	ORPHA:186
HP:0010702	Increased circulating antibody level	3592	IL12A	ORPHA:186
HP:0010702	Increased circulating antibody level	6689	SPIB	ORPHA:186
HP:0010702	Increased circulating antibody level	5450	POU2AF1	ORPHA:186
HP:0010702	Increased circulating antibody level	9966	TNFSF15	ORPHA:186
HP:0010702	Increased circulating antibody level	79258	MMEL1	ORPHA:186
HP:0010702	Increased circulating antibody level	3663	IRF5	ORPHA:186
HP:0010702	Increased circulating antibody level	7174	TPP2	OMIM:619220
HP:0010702	Increased circulating antibody level	3459	IFNGR1	OMIM:209950
HP:0010702	Increased circulating antibody level	84888	SPPL2A	OMIM:619549
HP:0010702	Increased circulating antibody level	331	XIAP	OMIM:308240
HP:0010702	Increased circulating antibody level	4068	SH2D1A	OMIM:308240
HP:0010702	Increased circulating antibody level	4615	MYD88	ORPHA:33226
HP:0010702	Increased circulating antibody level	4615	MYD88	OMIM:153600
HP:0010702	Increased circulating antibody level	9056	SLC7A7	ORPHA:470
HP:0010702	Increased circulating antibody level	213	ALB	ORPHA:86816
HP:0010702	Increased circulating antibody level	3845	KRAS	OMIM:614470
HP:0010702	Increased circulating antibody level	4893	NRAS	OMIM:614470
HP:0010702	Increased circulating antibody level	6440	SFTPC	OMIM:178500
HP:0010702	Increased circulating antibody level	727897	MUC5B	OMIM:178500
HP:0010702	Increased circulating antibody level	729238	SFTPA2	OMIM:178500
HP:0010702	Increased circulating antibody level	7015	TERT	OMIM:178500
HP:0010702	Increased circulating antibody level	11311	VPS45	OMIM:615285
HP:0010702	Increased circulating antibody level	5184	PEPD	OMIM:170100
HP:0010702	Increased circulating antibody level	1277	COL1A1	ORPHA:1310
HP:0010702	Increased circulating antibody level	64135	IFIH1	OMIM:615846
HP:0010702	Increased circulating antibody level	915	CD3D	ORPHA:169160
HP:0010702	Increased circulating antibody level	916	CD3E	ORPHA:169160
HP:0010702	Increased circulating antibody level	3123	HLA-DRB1	OMIM:181000
HP:0010702	Increased circulating antibody level	5692	PSMB4	OMIM:617591
HP:0010702	Increased circulating antibody level	5698	PSMB9	OMIM:617591
HP:0010702	Increased circulating antibody level	2629	GBA1	ORPHA:77261
HP:0010702	Increased circulating antibody level	2629	GBA1	ORPHA:77259
HP:0010702	Increased circulating antibody level	9051	PSTPIP1	ORPHA:69126
HP:0010702	Increased circulating antibody level	23064	SETX	OMIM:606002
HP:0010702	Increased circulating antibody level	5696	PSMB8	OMIM:256040
HP:0010702	Increased circulating antibody level	1991	ELANE	OMIM:202700
HP:0010702	Increased circulating antibody level	950	SCARB2	ORPHA:77259
HP:0010702	Increased circulating antibody level	595	CCND1	OMIM:254500
HP:0010702	Increased circulating antibody level	3981	LIG4	OMIM:254500
HP:0010702	Increased circulating antibody level	4598	MVK	OMIM:260920
HP:0010702	Increased circulating antibody level	4598	MVK	OMIM:610377
HP:0002853	Increased proportion of HLA DR+ T cells	843	CASP10	OMIM:603909
HP:0002853	Increased proportion of HLA DR+ T cells	355	FAS	OMIM:601859
HP:0002853	Increased proportion of HLA DR+ T cells	356	FASLG	OMIM:601859
HP:0005479	Decreased circulating IgE	3932	LCK	OMIM:615758
HP:0005479	Decreased circulating IgE	958	CD40	OMIM:606843
HP:0005479	Decreased circulating IgE	6929	TCF3	OMIM:619824
HP:0005479	Decreased circulating IgE	695	BTK	OMIM:300755
HP:0005479	Decreased circulating IgE	10043	TOM1	OMIM:619510
HP:0005479	Decreased circulating IgE	3561	IL2RG	OMIM:300400
HP:0005479	Decreased circulating IgE	959	CD40LG	OMIM:308230
HP:0005479	Decreased circulating IgE	60468	BACH2	OMIM:618394
HP:0011733	Abnormality of adrenal physiology	3988	LIPA	ORPHA:75233
HP:0011733	Abnormality of adrenal physiology	3988	LIPA	OMIM:278000
HP:0011733	Abnormality of adrenal physiology	54809	SAMD9	OMIM:617053
HP:0011733	Abnormality of adrenal physiology	326	AIRE	OMIM:240300
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231214
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231222
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231226
HP:0011733	Abnormality of adrenal physiology	55240	STEAP3	ORPHA:300298
HP:0011733	Abnormality of adrenal physiology	8879	SGPL1	OMIM:617575
HP:0011733	Abnormality of adrenal physiology	5190	PEX6	OMIM:614863
HP:0011733	Abnormality of adrenal physiology	29926	GMPPA	OMIM:615510
HP:0011733	Abnormality of adrenal physiology	29926	GMPPA	ORPHA:869
HP:0011733	Abnormality of adrenal physiology	89884	LHX4	OMIM:262700
HP:0011733	Abnormality of adrenal physiology	60684	TRAPPC11	ORPHA:869
HP:0011733	Abnormality of adrenal physiology	4173	MCM4	OMIM:609981
HP:0011733	Abnormality of adrenal physiology	7681	MKRN3	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	3653	IPW	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	791114	PWRN1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	100033413	SNORD116-1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	8924	HERC2	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	145624	PWAR1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	23742	NPAP1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	338433	SNORD115-1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	54880	BCOR	OMIM:300166
HP:0011733	Abnormality of adrenal physiology	64432	MRPS25	OMIM:619025
HP:0011733	Abnormality of adrenal physiology	5626	PROP1	OMIM:262600
HP:0011733	Abnormality of adrenal physiology	9054	NFS1	OMIM:619386
HP:0011733	Abnormality of adrenal physiology	6288	SAA1	ORPHA:85445
HP:0011733	Abnormality of adrenal physiology	5830	PEX5	OMIM:202370
HP:0011733	Abnormality of adrenal physiology	79133	NDUFAF5	OMIM:618238
HP:0011733	Abnormality of adrenal physiology	6662	SOX9	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	6845	VAMP7	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	51741	WWOX	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	4214	MAP3K1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2516	NR5A1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	7490	WT1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	58524	DMRT3	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	57647	DHX37	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	6736	SRY	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	23414	ZFPM2	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2626	GATA4	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2710	GK	OMIM:307030
HP:0011733	Abnormality of adrenal physiology	7809	BSND	ORPHA:89938
HP:0011733	Abnormality of adrenal physiology	7809	BSND	OMIM:602522
HP:0011733	Abnormality of adrenal physiology	1187	CLCNKA	ORPHA:89938
HP:0011733	Abnormality of adrenal physiology	1187	CLCNKA	OMIM:613090
HP:0011733	Abnormality of adrenal physiology	3766	KCNJ10	OMIM:612780
HP:0011733	Abnormality of adrenal physiology	3766	KCNJ10	ORPHA:199343
HP:0011733	Abnormality of adrenal physiology	3643	INSR	ORPHA:508
HP:0011733	Abnormality of adrenal physiology	84133	ZNRF3	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	7157	TP53	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	5573	PRKAR1A	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	1029	CDKN2A	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	6557	SLC12A1	OMIM:601678
HP:0011733	Abnormality of adrenal physiology	3758	KCNJ1	OMIM:241200
HP:0011733	Abnormality of adrenal physiology	79798	ARMC5	ORPHA:189427
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	ORPHA:189427
HP:0011733	Abnormality of adrenal physiology	8912	CACNA1H	OMIM:617027
HP:0011733	Abnormality of adrenal physiology	1811	SLC26A3	OMIM:214700
HP:0011733	Abnormality of adrenal physiology	3773	KCNJ16	OMIM:619406
HP:0011733	Abnormality of adrenal physiology	4952	OCRL	ORPHA:534
HP:0011733	Abnormality of adrenal physiology	3759	KCNJ2	ORPHA:37553
HP:0011733	Abnormality of adrenal physiology	84733	CBX2	OMIM:613080
HP:0011733	Abnormality of adrenal physiology	1027	CDKN1B	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1027	CDKN1B	ORPHA:276152
HP:0011733	Abnormality of adrenal physiology	1026	CDKN1A	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1030	CDKN2B	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1031	CDKN2C	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	84196	USP48	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	9101	USP8	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	546	ATRX	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	5566	PRKACA	OMIM:615830
HP:0011733	Abnormality of adrenal physiology	5566	PRKACA	ORPHA:189439
HP:0011733	Abnormality of adrenal physiology	8622	PDE8B	ORPHA:189439
HP:0011733	Abnormality of adrenal physiology	8622	PDE8B	OMIM:614190
HP:0011733	Abnormality of adrenal physiology	50940	PDE11A	ORPHA:189439
HP:0011733	Abnormality of adrenal physiology	50940	PDE11A	OMIM:610475
HP:0011733	Abnormality of adrenal physiology	50940	PDE11A	ORPHA:1359
HP:0011733	Abnormality of adrenal physiology	3767	KCNJ11	ORPHA:79644
HP:0011733	Abnormality of adrenal physiology	5979	RET	OMIM:171400
HP:0011733	Abnormality of adrenal physiology	3350	HTR1A	OMIM:614674
HP:0011733	Abnormality of adrenal physiology	3291	HSD11B2	OMIM:218030
HP:0011733	Abnormality of adrenal physiology	3291	HSD11B2	ORPHA:320
HP:0011733	Abnormality of adrenal physiology	2908	NR3C1	ORPHA:786
HP:0011733	Abnormality of adrenal physiology	5447	POR	OMIM:201750
HP:0011733	Abnormality of adrenal physiology	5447	POR	ORPHA:95699
HP:0011733	Abnormality of adrenal physiology	4158	MC2R	OMIM:202200
HP:0011733	Abnormality of adrenal physiology	4158	MC2R	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	215	ABCD1	ORPHA:139396
HP:0011733	Abnormality of adrenal physiology	1583	CYP11A1	ORPHA:168558
HP:0011733	Abnormality of adrenal physiology	1583	CYP11A1	ORPHA:289548
HP:0011733	Abnormality of adrenal physiology	8314	BAP1	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	4771	NF2	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	6598	SMARCB1	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	5155	PDGFB	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	84231	TRAF7	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	6608	SMO	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	207	AKT1	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	5290	PIK3CA	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	7015	TERT	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	51684	SUFU	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	6605	SMARCE1	ORPHA:2495
HP:0011733	Abnormality of adrenal physiology	8086	AAAS	OMIM:231550
HP:0011733	Abnormality of adrenal physiology	56246	MRAP	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	56246	MRAP	OMIM:607398
HP:0011733	Abnormality of adrenal physiology	6770	STAR	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	23530	NNT	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	23530	NNT	OMIM:614736
HP:0011733	Abnormality of adrenal physiology	10587	TXNRD2	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	10587	TXNRD2	OMIM:617825
HP:0011733	Abnormality of adrenal physiology	190	NR0B1	OMIM:300200
HP:0011733	Abnormality of adrenal physiology	55278	QRSL1	OMIM:618835
HP:0011733	Abnormality of adrenal physiology	5188	GATB	OMIM:618838
HP:0011733	Abnormality of adrenal physiology	866	SERPINA6	OMIM:611489
HP:0011733	Abnormality of adrenal physiology	3284	HSD3B2	ORPHA:90791
HP:0011733	Abnormality of adrenal physiology	283459	GATC	OMIM:618839
HP:0011733	Abnormality of adrenal physiology	1586	CYP17A1	ORPHA:90793
HP:0011733	Abnormality of adrenal physiology	55670	PEX26	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	55670	PEX26	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5824	PEX19	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5824	PEX19	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5828	PEX2	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5828	PEX2	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	8504	PEX3	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	8504	PEX3	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	9409	PEX16	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	9409	PEX16	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	8799	PEX11B	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	8799	PEX11B	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5189	PEX1	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5189	PEX1	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5193	PEX12	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5193	PEX12	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5194	PEX13	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5194	PEX13	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5195	PEX14	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5195	PEX14	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5192	PEX10	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5192	PEX10	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	284058	KANSL1	ORPHA:363958
HP:0011733	Abnormality of adrenal physiology	284058	KANSL1	ORPHA:363965
HP:0011733	Abnormality of adrenal physiology	51081	MRPS7	OMIM:617872
HP:0011733	Abnormality of adrenal physiology	3295	HSD17B4	OMIM:261515
HP:0011733	Abnormality of adrenal physiology	26123	TCTN3	ORPHA:2753
HP:0011733	Abnormality of adrenal physiology	65266	WNK4	OMIM:614491
HP:0011733	Abnormality of adrenal physiology	65125	WNK1	OMIM:614492
HP:0011733	Abnormality of adrenal physiology	26249	KLHL3	OMIM:614495
HP:0011733	Abnormality of adrenal physiology	8452	CUL3	OMIM:614496
HP:0011733	Abnormality of adrenal physiology	4306	NR3C2	OMIM:177735
HP:0011733	Abnormality of adrenal physiology	2737	GLI3	ORPHA:672
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	54551	MAGEL2	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	54551	MAGEL2	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	54551	MAGEL2	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	64072	CDH23	ORPHA:91347
HP:0011733	Abnormality of adrenal physiology	64072	CDH23	ORPHA:2965
HP:0011733	Abnormality of adrenal physiology	4791	NFKB2	OMIM:615577
HP:0011733	Abnormality of adrenal physiology	5122	PCSK1	ORPHA:71528
HP:0011733	Abnormality of adrenal physiology	55699	IARS2	OMIM:616007
HP:0011733	Abnormality of adrenal physiology	4221	MEN1	ORPHA:2965
HP:0011733	Abnormality of adrenal physiology	9049	AIP	ORPHA:2965
HP:0011733	Abnormality of adrenal physiology	55131	RBM28	OMIM:612079
HP:0011733	Abnormality of adrenal physiology	93627	TBCK	ORPHA:488632
HP:0011733	Abnormality of adrenal physiology	5443	POMC	ORPHA:71526
HP:0011733	Abnormality of adrenal physiology	1499	CTNNB1	ORPHA:54595
HP:0011733	Abnormality of adrenal physiology	673	BRAF	ORPHA:54595
HP:0011733	Abnormality of adrenal physiology	9095	TBX19	ORPHA:199296
HP:0011733	Abnormality of adrenal physiology	1188	CLCNKB	ORPHA:358
HP:0011733	Abnormality of adrenal physiology	6559	SLC12A3	ORPHA:358
HP:0011733	Abnormality of adrenal physiology	3762	KCNJ5	ORPHA:251274
HP:0011733	Abnormality of adrenal physiology	776	CACNA1D	ORPHA:369929
HP:0011733	Abnormality of adrenal physiology	1181	CLCN2	ORPHA:404
HP:0011733	Abnormality of adrenal physiology	1584	CYP11B1	ORPHA:403
HP:0011733	Abnormality of adrenal physiology	1585	CYP11B2	ORPHA:403
HP:0011733	Abnormality of adrenal physiology	6340	SCNN1G	ORPHA:171876
HP:0011733	Abnormality of adrenal physiology	6337	SCNN1A	ORPHA:171876
HP:0011733	Abnormality of adrenal physiology	6338	SCNN1B	ORPHA:171876
HP:0005365	Severe B lymphocytopenia	100	ADA	OMIM:102700
HP:0005365	Severe B lymphocytopenia	64421	DCLRE1C	OMIM:603554
HP:0005365	Severe B lymphocytopenia	5896	RAG1	OMIM:603554
HP:0005365	Severe B lymphocytopenia	5897	RAG2	OMIM:603554
HP:0005365	Severe B lymphocytopenia	5557	PRIM1	OMIM:620005
HP:0005365	Severe B lymphocytopenia	4791	NFKB2	ORPHA:293978
HP:0002857	Genu valgum	1497	CTNS	OMIM:219800
HP:0002857	Genu valgum	875	CBS	ORPHA:394
HP:0002857	Genu valgum	7421	VDR	ORPHA:93160
HP:0002857	Genu valgum	2131	EXT1	OMIM:133700
HP:0002857	Genu valgum	2131	EXT1	ORPHA:321
HP:0002857	Genu valgum	2131	EXT1	ORPHA:502
HP:0002857	Genu valgum	51256	TBC1D7	OMIM:248000
HP:0002857	Genu valgum	2132	EXT2	OMIM:133701
HP:0002857	Genu valgum	2132	EXT2	ORPHA:321
HP:0002857	Genu valgum	2972	BRF1	OMIM:616202
HP:0002857	Genu valgum	7360	UGP2	OMIM:618744
HP:0002857	Genu valgum	10992	SF3B2	OMIM:164210
HP:0002857	Genu valgum	538	ATP7A	OMIM:304150
HP:0002857	Genu valgum	538	ATP7A	ORPHA:198
HP:0002857	Genu valgum	1836	SLC26A2	ORPHA:56304
HP:0002857	Genu valgum	1836	SLC26A2	ORPHA:93307
HP:0002857	Genu valgum	1836	SLC26A2	OMIM:222600
HP:0002857	Genu valgum	4125	MAN2B1	ORPHA:309282
HP:0002857	Genu valgum	58	ACTA1	ORPHA:171436
HP:0002857	Genu valgum	7169	TPM2	ORPHA:171436
HP:0002857	Genu valgum	4703	NEB	ORPHA:171436
HP:0002857	Genu valgum	10324	KLHL41	ORPHA:171436
HP:0002857	Genu valgum	56203	LMOD3	ORPHA:171436
HP:0002857	Genu valgum	1073	CFL2	ORPHA:171436
HP:0002857	Genu valgum	1278	COL1A2	ORPHA:230851
HP:0002857	Genu valgum	3021	H3-3B	OMIM:619721
HP:0002857	Genu valgum	55790	CSGALNACT1	OMIM:618870
HP:0002857	Genu valgum	23322	RPGRIP1L	OMIM:611560
HP:0002857	Genu valgum	176	ACAN	OMIM:608361
HP:0002857	Genu valgum	84572	GNPTG	OMIM:252605
HP:0002857	Genu valgum	64324	NSD1	OMIM:117550
HP:0002857	Genu valgum	7040	TGFB1	OMIM:131300
HP:0002857	Genu valgum	7040	TGFB1	ORPHA:1328
HP:0002857	Genu valgum	9469	CHST3	OMIM:143095
HP:0002857	Genu valgum	9469	CHST3	ORPHA:263463
HP:0002857	Genu valgum	9469	CHST3	OMIM:245600
HP:0002857	Genu valgum	54880	BCOR	ORPHA:2712
HP:0002857	Genu valgum	815	CAMK2A	OMIM:617798
HP:0002857	Genu valgum	4853	NOTCH2	OMIM:102500
HP:0002857	Genu valgum	10381	TUBB3	ORPHA:300570
HP:0002857	Genu valgum	55699	IARS2	ORPHA:436174
HP:0002857	Genu valgum	55699	IARS2	OMIM:616007
HP:0002857	Genu valgum	83480	PUS3	ORPHA:488627
HP:0002857	Genu valgum	157680	VPS13B	OMIM:216550
HP:0002857	Genu valgum	157680	VPS13B	ORPHA:193
HP:0002857	Genu valgum	5566	PRKACA	ORPHA:289
HP:0002857	Genu valgum	5566	PRKACA	OMIM:619142
HP:0002857	Genu valgum	5567	PRKACB	ORPHA:289
HP:0002857	Genu valgum	5567	PRKACB	OMIM:619143
HP:0002857	Genu valgum	2735	GLI1	ORPHA:289
HP:0002857	Genu valgum	2735	GLI1	OMIM:618123
HP:0002857	Genu valgum	2121	EVC	ORPHA:289
HP:0002857	Genu valgum	2121	EVC	OMIM:225500
HP:0002857	Genu valgum	51626	DYNC2LI1	ORPHA:289
HP:0002857	Genu valgum	132884	EVC2	ORPHA:289
HP:0002857	Genu valgum	132884	EVC2	OMIM:225500
HP:0002857	Genu valgum	9839	ZEB2	ORPHA:261552
HP:0002857	Genu valgum	9839	ZEB2	ORPHA:261537
HP:0002857	Genu valgum	4763	NF1	ORPHA:363700
HP:0002857	Genu valgum	4763	NF1	OMIM:162200
HP:0002857	Genu valgum	1311	COMP	OMIM:132400
HP:0002857	Genu valgum	1311	COMP	OMIM:177170
HP:0002857	Genu valgum	1311	COMP	ORPHA:93308
HP:0002857	Genu valgum	1311	COMP	ORPHA:750
HP:0002857	Genu valgum	2720	GLB1	OMIM:253010
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:85198
HP:0002857	Genu valgum	1280	COL2A1	OMIM:184250
HP:0002857	Genu valgum	1280	COL2A1	OMIM:132450
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:93315
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:93316
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:94068
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:166011
HP:0002857	Genu valgum	3425	IDUA	OMIM:607016
HP:0002857	Genu valgum	374654	KIF7	OMIM:607131
HP:0002857	Genu valgum	374654	KIF7	ORPHA:166024
HP:0002857	Genu valgum	5376	PMP22	ORPHA:3115
HP:0002857	Genu valgum	4359	MPZ	ORPHA:3115
HP:0002857	Genu valgum	1588	CYP19A1	ORPHA:91
HP:0002857	Genu valgum	9653	HS2ST1	OMIM:619194
HP:0002857	Genu valgum	5251	PHEX	ORPHA:89936
HP:0002857	Genu valgum	5251	PHEX	OMIM:307800
HP:0002857	Genu valgum	3043	HBB	ORPHA:231214
HP:0002857	Genu valgum	3043	HBB	ORPHA:231226
HP:0002857	Genu valgum	6804	STX1A	ORPHA:904
HP:0002857	Genu valgum	7461	CLIP2	ORPHA:904
HP:0002857	Genu valgum	84277	DNAJC30	ORPHA:904
HP:0002857	Genu valgum	8468	FKBP6	ORPHA:904
HP:0002857	Genu valgum	5982	RFC2	ORPHA:904
HP:0002857	Genu valgum	2969	GTF2I	ORPHA:904
HP:0002857	Genu valgum	3984	LIMK1	ORPHA:904
HP:0002857	Genu valgum	9569	GTF2IRD1	ORPHA:904
HP:0002857	Genu valgum	155382	VPS37D	ORPHA:904
HP:0002857	Genu valgum	155368	METTL27	ORPHA:904
HP:0002857	Genu valgum	114049	BUD23	ORPHA:904
HP:0002857	Genu valgum	7458	EIF4H	ORPHA:904
HP:0002857	Genu valgum	84163	GTF2IRD2	ORPHA:904
HP:0002857	Genu valgum	9275	BCL7B	ORPHA:904
HP:0002857	Genu valgum	26608	TBL2	ORPHA:904
HP:0002857	Genu valgum	653361	NCF1	ORPHA:904
HP:0002857	Genu valgum	135886	TMEM270	ORPHA:904
HP:0002857	Genu valgum	51085	MLXIPL	ORPHA:904
HP:0002857	Genu valgum	9031	BAZ1B	ORPHA:904
HP:0002857	Genu valgum	2006	ELN	ORPHA:904
HP:0002857	Genu valgum	5593	PRKG2	OMIM:619636
HP:0002857	Genu valgum	4952	OCRL	OMIM:309000
HP:0002857	Genu valgum	4952	OCRL	ORPHA:534
HP:0002857	Genu valgum	55027	HEATR3	OMIM:620072
HP:0002857	Genu valgum	26137	ZBTB20	OMIM:259050
HP:0002857	Genu valgum	54928	BPNT2	OMIM:614078
HP:0002857	Genu valgum	8838	CCN6	ORPHA:1159
HP:0002857	Genu valgum	6473	SHOX	ORPHA:314795
HP:0002857	Genu valgum	6473	SHOX	ORPHA:240
HP:0002857	Genu valgum	3835	KIF22	OMIM:603546
HP:0002857	Genu valgum	3835	KIF22	ORPHA:93360
HP:0002857	Genu valgum	7030	TFE3	OMIM:301066
HP:0002857	Genu valgum	23162	MAPK8IP3	OMIM:618443
HP:0002857	Genu valgum	9394	HS6ST1	OMIM:614880
HP:0002857	Genu valgum	23483	TGDS	OMIM:616145
HP:0002857	Genu valgum	3977	LIFR	ORPHA:3206
HP:0002857	Genu valgum	546	ATRX	OMIM:309580
HP:0002857	Genu valgum	5167	ENPP1	OMIM:613312
HP:0002857	Genu valgum	7994	KAT6A	OMIM:616268
HP:0002857	Genu valgum	3339	HSPG2	ORPHA:800
HP:0002857	Genu valgum	1186	CLCN7	ORPHA:53
HP:0002857	Genu valgum	2316	FLNA	OMIM:309350
HP:0002857	Genu valgum	2316	FLNA	OMIM:305620
HP:0002857	Genu valgum	1301	COL11A1	ORPHA:250984
HP:0002857	Genu valgum	1301	COL11A1	ORPHA:560
HP:0002857	Genu valgum	1297	COL9A1	ORPHA:250984
HP:0002857	Genu valgum	1297	COL9A1	ORPHA:166002
HP:0002857	Genu valgum	1297	COL9A1	OMIM:614134
HP:0002857	Genu valgum	1298	COL9A2	ORPHA:250984
HP:0002857	Genu valgum	1298	COL9A2	ORPHA:166002
HP:0002857	Genu valgum	1299	COL9A3	ORPHA:250984
HP:0002857	Genu valgum	1299	COL9A3	ORPHA:166002
HP:0002857	Genu valgum	84695	LOXL3	ORPHA:250984
HP:0002857	Genu valgum	2200	FBN1	ORPHA:2462
HP:0002857	Genu valgum	6497	SKI	ORPHA:2462
HP:0002857	Genu valgum	6497	SKI	OMIM:182212
HP:0002857	Genu valgum	55081	IFT57	OMIM:617927
HP:0002857	Genu valgum	865	CBFB	OMIM:620099
HP:0002857	Genu valgum	54808	DYM	ORPHA:239
HP:0002857	Genu valgum	54808	DYM	OMIM:607326
HP:0002857	Genu valgum	54808	DYM	OMIM:223800
HP:0002857	Genu valgum	8600	TNFSF11	OMIM:259710
HP:0002857	Genu valgum	9361	LONP1	OMIM:600373
HP:0002857	Genu valgum	10466	COG5	ORPHA:263487
HP:0002857	Genu valgum	579	NKX3-2	OMIM:613330
HP:0002857	Genu valgum	26160	IFT172	OMIM:615630
HP:0002857	Genu valgum	2335	FN1	ORPHA:93315
HP:0002857	Genu valgum	23394	ADNP	OMIM:615873
HP:0002857	Genu valgum	7681	MKRN3	OMIM:176270
HP:0002857	Genu valgum	3653	IPW	OMIM:176270
HP:0002857	Genu valgum	54551	MAGEL2	OMIM:176270
HP:0002857	Genu valgum	791114	PWRN1	OMIM:176270
HP:0002857	Genu valgum	100033413	SNORD116-1	OMIM:176270
HP:0002857	Genu valgum	8924	HERC2	OMIM:176270
HP:0002857	Genu valgum	145624	PWAR1	OMIM:176270
HP:0002857	Genu valgum	23742	NPAP1	OMIM:176270
HP:0002857	Genu valgum	338433	SNORD115-1	OMIM:176270
HP:0002857	Genu valgum	4148	MATN3	ORPHA:93311
HP:0002857	Genu valgum	4148	MATN3	OMIM:607078
HP:0002857	Genu valgum	411	ARSB	OMIM:253200
HP:0002857	Genu valgum	59341	TRPV4	OMIM:156530
HP:0002857	Genu valgum	59341	TRPV4	OMIM:168400
HP:0002857	Genu valgum	59341	TRPV4	OMIM:184095
HP:0002857	Genu valgum	8882	ZPR1	OMIM:619321
HP:0002857	Genu valgum	137682	NDUFAF6	OMIM:618913
HP:0002857	Genu valgum	55784	MCTP2	ORPHA:1596
HP:0002857	Genu valgum	64135	IFIH1	OMIM:182250
HP:0002857	Genu valgum	153642	ARSK	OMIM:619698
HP:0002857	Genu valgum	4998	ORC1	OMIM:224690
HP:0002857	Genu valgum	84068	SLC10A7	OMIM:618363
HP:0002857	Genu valgum	5604	MAP2K1	ORPHA:1340
HP:0002857	Genu valgum	5605	MAP2K2	ORPHA:1340
HP:0002857	Genu valgum	3845	KRAS	ORPHA:1340
HP:0002857	Genu valgum	673	BRAF	ORPHA:1340
HP:0002857	Genu valgum	23111	SPART	ORPHA:101000
HP:0002857	Genu valgum	9451	EIF2AK3	OMIM:226980
HP:0002857	Genu valgum	54681	P4HTM	OMIM:618493
HP:0002857	Genu valgum	860	RUNX2	ORPHA:1452
HP:0002857	Genu valgum	3930	LBR	OMIM:618019
HP:0002857	Genu valgum	51715	RAB23	ORPHA:65759
HP:0002857	Genu valgum	51715	RAB23	OMIM:201000
HP:0002857	Genu valgum	1954	MEGF8	ORPHA:65759
HP:0002857	Genu valgum	1300	COL10A1	OMIM:156500
HP:0002857	Genu valgum	6424	SFRP4	OMIM:265900
HP:0002857	Genu valgum	10526	IPO8	OMIM:619472
HP:0002857	Genu valgum	6711	SPTBN1	OMIM:619475
HP:0002857	Genu valgum	2588	GALNS	OMIM:253000
HP:0002857	Genu valgum	80152	CENPT	OMIM:618702
HP:0002857	Genu valgum	4796	TONSL	ORPHA:93357
HP:0002857	Genu valgum	4796	TONSL	OMIM:271510
HP:0002857	Genu valgum	5184	PEPD	ORPHA:742
HP:0002857	Genu valgum	7227	TRPS1	ORPHA:502
HP:0002857	Genu valgum	374879	ZNF699	OMIM:619488
HP:0002857	Genu valgum	10651	MTX2	OMIM:619127
HP:0002857	Genu valgum	4322	MMP13	OMIM:250400
HP:0002857	Genu valgum	126792	B3GALT6	OMIM:271640
HP:0002857	Genu valgum	89970	RSPRY1	ORPHA:457395
HP:0002857	Genu valgum	2990	GUSB	OMIM:253220
HP:0002857	Genu valgum	8139	GAN	ORPHA:643
HP:0002857	Genu valgum	26229	B3GAT3	OMIM:245600
HP:0002857	Genu valgum	83452	RAB33B	OMIM:615222
HP:0002857	Genu valgum	80169	CTC1	OMIM:612199
HP:0002857	Genu valgum	25871	NEPRO	OMIM:618853
HP:0002857	Genu valgum	871	SERPINH1	OMIM:613848
HP:0002859	Rhabdomyosarcoma	5727	PTCH1	ORPHA:77301
HP:0002859	Rhabdomyosarcoma	4763	NF1	OMIM:162200
HP:0002859	Rhabdomyosarcoma	4763	NF1	ORPHA:97685
HP:0002859	Rhabdomyosarcoma	9184	BUB3	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	699	BUB1	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	9702	CEP57	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	9319	TRIP13	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	701	BUB1B	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	4683	NBN	OMIM:251260
HP:0002859	Rhabdomyosarcoma	4683	NBN	ORPHA:647
HP:0002859	Rhabdomyosarcoma	4157	MC1R	ORPHA:626
HP:0002859	Rhabdomyosarcoma	4893	NRAS	ORPHA:626
HP:0002859	Rhabdomyosarcoma	3265	HRAS	OMIM:218040
HP:0002859	Rhabdomyosarcoma	3265	HRAS	ORPHA:2874
HP:0002859	Rhabdomyosarcoma	4292	MLH1	OMIM:276300
HP:0002859	Rhabdomyosarcoma	7157	TP53	ORPHA:524
HP:0002859	Rhabdomyosarcoma	1029	CDKN2A	ORPHA:524
HP:0002859	Rhabdomyosarcoma	4193	MDM2	ORPHA:524
HP:0002859	Rhabdomyosarcoma	11200	CHEK2	ORPHA:524
HP:0002859	Rhabdomyosarcoma	5002	SLC22A18	OMIM:268210
HP:0002859	Rhabdomyosarcoma	5081	PAX7	OMIM:268220
HP:0002859	Rhabdomyosarcoma	2308	FOXO1	OMIM:268220
HP:0002859	Rhabdomyosarcoma	5077	PAX3	OMIM:268220
HP:0002859	Rhabdomyosarcoma	9817	KEAP1	ORPHA:276399
HP:0002859	Rhabdomyosarcoma	23405	DICER1	ORPHA:276399
HP:0002860	Squamous cell carcinoma	10804	GJB6	ORPHA:477
HP:0002860	Squamous cell carcinoma	2706	GJB2	ORPHA:477
HP:0002860	Squamous cell carcinoma	2706	GJB2	OMIM:602540
HP:0002860	Squamous cell carcinoma	2706	GJB2	OMIM:148210
HP:0002860	Squamous cell carcinoma	80326	WNT10A	OMIM:224750
HP:0002860	Squamous cell carcinoma	80326	WNT10A	ORPHA:50944
HP:0002860	Squamous cell carcinoma	10519	CIB1	OMIM:618267
HP:0002860	Squamous cell carcinoma	10519	CIB1	ORPHA:302
HP:0002860	Squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0002860	Squamous cell carcinoma	9401	RECQL4	ORPHA:221016
HP:0002860	Squamous cell carcinoma	9401	RECQL4	OMIM:268400
HP:0002860	Squamous cell carcinoma	55851	PSENEN	OMIM:613736
HP:0002860	Squamous cell carcinoma	3621	ING1	OMIM:275355
HP:0002860	Squamous cell carcinoma	8795	TNFRSF10B	OMIM:275355
HP:0002860	Squamous cell carcinoma	1736	DKC1	OMIM:305000
HP:0002860	Squamous cell carcinoma	7486	WRN	ORPHA:902
HP:0002860	Squamous cell carcinoma	11322	TMC6	ORPHA:302
HP:0002860	Squamous cell carcinoma	3574	IL7	ORPHA:302
HP:0002860	Squamous cell carcinoma	147138	TMC8	ORPHA:302
HP:0002860	Squamous cell carcinoma	7373	COL14A1	ORPHA:79501
HP:0002860	Squamous cell carcinoma	79719	AAGAB	ORPHA:79501
HP:0002860	Squamous cell carcinoma	3909	LAMA3	ORPHA:79404
HP:0002860	Squamous cell carcinoma	3918	LAMC2	ORPHA:79404
HP:0002860	Squamous cell carcinoma	3914	LAMB3	ORPHA:79404
HP:0002860	Squamous cell carcinoma	1308	COL17A1	ORPHA:79406
HP:0002860	Squamous cell carcinoma	4312	MMP1	ORPHA:79408
HP:0002860	Squamous cell carcinoma	4312	MMP1	OMIM:226600
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79408
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79409
HP:0002860	Squamous cell carcinoma	1294	COL7A1	OMIM:226600
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:89842
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79410
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79411
HP:0002860	Squamous cell carcinoma	641	BLM	OMIM:210900
HP:0002860	Squamous cell carcinoma	5429	POLH	OMIM:278750
HP:0002860	Squamous cell carcinoma	5429	POLH	ORPHA:90342
HP:0002860	Squamous cell carcinoma	55612	FERMT1	ORPHA:2908
HP:0002860	Squamous cell carcinoma	4913	NTHL1	ORPHA:454840
HP:0002860	Squamous cell carcinoma	2072	ERCC4	OMIM:278760
HP:0002860	Squamous cell carcinoma	84464	SLX4	OMIM:613951
HP:0002860	Squamous cell carcinoma	404672	GTF2H5	ORPHA:33364
HP:0002860	Squamous cell carcinoma	833	CARS1	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2068	ERCC2	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2068	ERCC2	OMIM:601675
HP:0002860	Squamous cell carcinoma	7737	RNF113A	ORPHA:33364
HP:0002860	Squamous cell carcinoma	136647	MPLKIP	ORPHA:33364
HP:0002860	Squamous cell carcinoma	6897	TARS1	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2071	ERCC3	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2961	GTF2E2	ORPHA:33364
HP:0002860	Squamous cell carcinoma	81704	DOCK8	OMIM:243700
HP:0002860	Squamous cell carcinoma	81704	DOCK8	ORPHA:217390
HP:0002860	Squamous cell carcinoma	23328	SASH1	OMIM:618373
HP:0002860	Squamous cell carcinoma	22861	NLRP1	OMIM:615225
HP:0002860	Squamous cell carcinoma	2224	FDPS	ORPHA:79152
HP:0002860	Squamous cell carcinoma	4597	MVD	ORPHA:79152
HP:0002860	Squamous cell carcinoma	63910	SLC17A9	ORPHA:79152
HP:0002860	Squamous cell carcinoma	4598	MVK	ORPHA:79152
HP:0002860	Squamous cell carcinoma	7390	UROS	ORPHA:79277
HP:0002860	Squamous cell carcinoma	2623	GATA1	ORPHA:79277
HP:0002860	Squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0002860	Squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0002860	Squamous cell carcinoma	1075	CTSC	ORPHA:678
HP:0002860	Squamous cell carcinoma	64682	ANAPC1	ORPHA:221008
HP:0002860	Squamous cell carcinoma	7298	TYMS	OMIM:620040
HP:0002860	Squamous cell carcinoma	284654	RSPO1	ORPHA:85112
HP:0002860	Squamous cell carcinoma	1643	DDB2	OMIM:278740
HP:0002860	Squamous cell carcinoma	4000	LMNA	ORPHA:363618
HP:0002860	Squamous cell carcinoma	2073	ERCC5	ORPHA:220295
HP:0002860	Squamous cell carcinoma	56916	SMARCAD1	OMIM:181600
HP:0002860	Squamous cell carcinoma	26277	TINF2	OMIM:127550
HP:0002860	Squamous cell carcinoma	7012	TERC	OMIM:127550
HP:0002860	Squamous cell carcinoma	7015	TERT	OMIM:127550
HP:0002860	Squamous cell carcinoma	3852	KRT5	ORPHA:79396
HP:0002860	Squamous cell carcinoma	3861	KRT14	ORPHA:79396
HP:0002860	Squamous cell carcinoma	7299	TYR	ORPHA:79431
HP:0002860	Squamous cell carcinoma	7299	TYR	ORPHA:79434
HP:0002860	Squamous cell carcinoma	4157	MC1R	ORPHA:79432
HP:0002860	Squamous cell carcinoma	4948	OCA2	ORPHA:79432
HP:0002860	Squamous cell carcinoma	7508	XPC	OMIM:278720
HP:0002860	Squamous cell carcinoma	7507	XPA	OMIM:278700
HP:0002860	Squamous cell carcinoma	545	ATR	OMIM:614564
HP:0002860	Squamous cell carcinoma	6772	STAT1	ORPHA:391487
HP:0002860	Squamous cell carcinoma	10043	TOM1	ORPHA:391487
HP:0002862	Bladder carcinoma	538	ATP7A	OMIM:304150
HP:0002862	Bladder carcinoma	3265	HRAS	OMIM:218040
HP:0002862	Bladder carcinoma	54894	RNF43	ORPHA:157798
HP:0002862	Bladder carcinoma	6714	SRC	OMIM:114500
HP:0002862	Bladder carcinoma	201163	FLCN	OMIM:114500
HP:0002862	Bladder carcinoma	10395	DLC1	OMIM:114500
HP:0002862	Bladder carcinoma	11200	CHEK2	OMIM:114500
HP:0002862	Bladder carcinoma	8313	AXIN2	OMIM:114500
HP:0002862	Bladder carcinoma	5290	PIK3CA	OMIM:114500
HP:0002862	Bladder carcinoma	5290	PIK3CA	OMIM:615108
HP:0002862	Bladder carcinoma	2033	EP300	OMIM:114500
HP:0002862	Bladder carcinoma	5782	PTPN12	OMIM:114500
HP:0002862	Bladder carcinoma	5320	PLA2G2A	OMIM:114500
HP:0002862	Bladder carcinoma	6790	AURKA	OMIM:114500
HP:0002862	Bladder carcinoma	1630	DCC	OMIM:114500
HP:0002862	Bladder carcinoma	27030	MLH3	OMIM:114500
HP:0002862	Bladder carcinoma	581	BAX	OMIM:114500
HP:0002862	Bladder carcinoma	25788	RAD54B	OMIM:114500
HP:0002862	Bladder carcinoma	595	CCND1	OMIM:114500
HP:0002862	Bladder carcinoma	699	BUB1	OMIM:114500
HP:0002862	Bladder carcinoma	701	BUB1B	OMIM:114500
HP:0002862	Bladder carcinoma	2261	FGFR3	OMIM:114500
HP:0002862	Bladder carcinoma	2261	FGFR3	OMIM:109800
HP:0002862	Bladder carcinoma	7097	TLR2	OMIM:114500
HP:0002862	Bladder carcinoma	4893	NRAS	OMIM:114500
HP:0002862	Bladder carcinoma	324	APC	OMIM:114500
HP:0002862	Bladder carcinoma	1499	CTNNB1	OMIM:114500
HP:0002862	Bladder carcinoma	7157	TP53	OMIM:114500
HP:0002862	Bladder carcinoma	4163	MCC	OMIM:114500
HP:0002862	Bladder carcinoma	207	AKT1	OMIM:114500
HP:0002862	Bladder carcinoma	207	AKT1	OMIM:615109
HP:0002862	Bladder carcinoma	5157	PDGFRL	OMIM:114500
HP:0002862	Bladder carcinoma	5795	PTPRJ	OMIM:114500
HP:0002862	Bladder carcinoma	673	BRAF	OMIM:114500
HP:0002862	Bladder carcinoma	5728	PTEN	OMIM:158350
HP:0002862	Bladder carcinoma	3845	KRAS	OMIM:109800
HP:0002862	Bladder carcinoma	5925	RB1	OMIM:109800
HP:0002864	Paraganglioma of head and neck	7428	VHL	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	7428	VHL	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	1743	DLST	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	4191	MDH2	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	5979	RET	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	5979	RET	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	6389	SDHA	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	23095	KIF1B	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	2271	FH	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	8402	SLC25A11	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	55654	TMEM127	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	4149	MAX	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	1788	DNMT3A	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	2034	EPAS1	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	4763	NF1	ORPHA:97685
HP:0002864	Paraganglioma of head and neck	6390	SDHB	OMIM:115310
HP:0002864	Paraganglioma of head and neck	6391	SDHC	OMIM:605373
HP:0002864	Paraganglioma of head and neck	54949	SDHAF2	OMIM:601650
HP:0002864	Paraganglioma of head and neck	6392	SDHD	OMIM:168000
HP:0002865	Medullary thyroid carcinoma	201163	FLCN	ORPHA:122
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:162300
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:155240
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:171400
HP:0002866	Hypoplastic iliac wing	54808	DYM	OMIM:223800
HP:0002866	Hypoplastic iliac wing	2074	ERCC6	OMIM:133540
HP:0002866	Hypoplastic iliac wing	2121	EVC	OMIM:225500
HP:0002866	Hypoplastic iliac wing	132884	EVC2	OMIM:225500
HP:0002866	Hypoplastic iliac wing	7476	WNT7A	OMIM:228930
HP:0002866	Hypoplastic iliac wing	579	NKX3-2	OMIM:613330
HP:0002866	Hypoplastic iliac wing	1387	CREBBP	OMIM:180849
HP:0002866	Hypoplastic iliac wing	2033	EP300	OMIM:180849
HP:0002866	Hypoplastic iliac wing	2335	FN1	ORPHA:93315
HP:0002866	Hypoplastic iliac wing	1280	COL2A1	ORPHA:93315
HP:0002866	Hypoplastic iliac wing	1280	COL2A1	OMIM:200610
HP:0002866	Hypoplastic iliac wing	5116	PCNT	ORPHA:2637
HP:0002866	Hypoplastic iliac wing	5116	PCNT	OMIM:210720
HP:0002866	Hypoplastic iliac wing	10013	HDAC6	ORPHA:163966
HP:0002866	Hypoplastic iliac wing	10013	HDAC6	OMIM:300863
HP:0002866	Hypoplastic iliac wing	2146	EZH2	OMIM:277590
HP:0002866	Hypoplastic iliac wing	147372	CCBE1	OMIM:235510
HP:0002866	Hypoplastic iliac wing	411	ARSB	OMIM:253200
HP:0002866	Hypoplastic iliac wing	1513	CTSK	ORPHA:763
HP:0002866	Hypoplastic iliac wing	3549	IHH	OMIM:607778
HP:0002866	Hypoplastic iliac wing	8726	EED	OMIM:617561
HP:0002866	Hypoplastic iliac wing	860	RUNX2	OMIM:119600
HP:0002866	Hypoplastic iliac wing	6913	TBX15	OMIM:260660
HP:0002866	Hypoplastic iliac wing	4089	SMAD4	OMIM:139210
HP:0002866	Hypoplastic iliac wing	26175	LYSET	OMIM:619345
HP:0002866	Hypoplastic iliac wing	2623	GATA1	OMIM:190685
HP:0002866	Hypoplastic iliac wing	54101	RIPK4	OMIM:263650
HP:0002866	Hypoplastic iliac wing	6399	TRAPPC2	OMIM:313400
HP:0002866	Hypoplastic iliac wing	6662	SOX9	OMIM:114290
HP:0002866	Hypoplastic iliac wing	388015	RTL1	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	8788	DLK1	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	55384	MEG3	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	1161	ERCC8	OMIM:216400
HP:0002866	Hypoplastic iliac wing	3911	LAMA5	OMIM:620076
HP:0002867	Abnormal ilium morphology	1301	COL11A1	OMIM:154780
HP:0002867	Abnormal ilium morphology	1836	SLC26A2	OMIM:600972
HP:0002867	Abnormal ilium morphology	28981	IFT81	OMIM:617895
HP:0002867	Abnormal ilium morphology	579	NKX3-2	OMIM:613330
HP:0002867	Abnormal ilium morphology	23233	EXOC6B	ORPHA:93359
HP:0002867	Abnormal ilium morphology	11128	POLR3A	OMIM:264090
HP:0002867	Abnormal ilium morphology	11128	POLR3A	ORPHA:3455
HP:0002867	Abnormal ilium morphology	6913	TBX15	ORPHA:93333
HP:0002867	Abnormal ilium morphology	6223	RPS19	OMIM:105650
HP:0002867	Abnormal ilium morphology	5130	PCYT1A	ORPHA:85167
HP:0002867	Abnormal ilium morphology	23522	KAT6B	ORPHA:85201
HP:0002867	Abnormal ilium morphology	91147	TMEM67	ORPHA:140976
HP:0002867	Abnormal ilium morphology	6023	RMRP	OMIM:607095
HP:0002867	Abnormal ilium morphology	388015	RTL1	ORPHA:96334
HP:0002867	Abnormal ilium morphology	8788	DLK1	ORPHA:96334
HP:0002867	Abnormal ilium morphology	55384	MEG3	ORPHA:96334
HP:0002867	Abnormal ilium morphology	2316	FLNA	OMIM:304120
HP:0002867	Abnormal ilium morphology	54	ACP5	ORPHA:1855
HP:0002867	Abnormal ilium morphology	54808	DYM	ORPHA:239
HP:0002867	Abnormal ilium morphology	2074	ERCC6	OMIM:133540
HP:0002867	Abnormal ilium morphology	2121	EVC	OMIM:225500
HP:0002867	Abnormal ilium morphology	132884	EVC2	OMIM:225500
HP:0002867	Abnormal ilium morphology	7476	WNT7A	OMIM:228930
HP:0002867	Abnormal ilium morphology	2335	FN1	ORPHA:93315
HP:0002867	Abnormal ilium morphology	5116	PCNT	ORPHA:2637
HP:0002867	Abnormal ilium morphology	5116	PCNT	OMIM:210720
HP:0002867	Abnormal ilium morphology	10013	HDAC6	ORPHA:163966
HP:0002867	Abnormal ilium morphology	10013	HDAC6	OMIM:300863
HP:0002867	Abnormal ilium morphology	2146	EZH2	OMIM:277590
HP:0002867	Abnormal ilium morphology	147372	CCBE1	OMIM:235510
HP:0002867	Abnormal ilium morphology	8726	EED	OMIM:617561
HP:0002867	Abnormal ilium morphology	860	RUNX2	OMIM:119600
HP:0002867	Abnormal ilium morphology	26175	LYSET	OMIM:619345
HP:0002867	Abnormal ilium morphology	2623	GATA1	OMIM:190685
HP:0002867	Abnormal ilium morphology	54101	RIPK4	OMIM:263650
HP:0002867	Abnormal ilium morphology	6399	TRAPPC2	OMIM:313400
HP:0002867	Abnormal ilium morphology	1161	ERCC8	OMIM:216400
HP:0002867	Abnormal ilium morphology	3911	LAMA5	OMIM:620076
HP:0002867	Abnormal ilium morphology	8838	CCN6	ORPHA:1159
HP:0002867	Abnormal ilium morphology	2137	EXTL3	ORPHA:508533
HP:0002867	Abnormal ilium morphology	23556	PIGN	OMIM:614080
HP:0002867	Abnormal ilium morphology	6197	RPS6KA3	OMIM:303600
HP:0002867	Abnormal ilium morphology	6197	RPS6KA3	ORPHA:192
HP:0002867	Abnormal ilium morphology	26137	ZBTB20	OMIM:259050
HP:0002867	Abnormal ilium morphology	26137	ZBTB20	ORPHA:3042
HP:0002867	Abnormal ilium morphology	9871	SEC24D	OMIM:616294
HP:0002867	Abnormal ilium morphology	1513	CTSK	OMIM:265800
HP:0002867	Abnormal ilium morphology	9451	EIF2AK3	OMIM:226980
HP:0002867	Abnormal ilium morphology	54187	NANS	OMIM:610442
HP:0002867	Abnormal ilium morphology	6662	SOX9	OMIM:114290
HP:0002867	Abnormal ilium morphology	5830	PEX5	OMIM:616716
HP:0002867	Abnormal ilium morphology	4921	DDR2	OMIM:271665
HP:0002867	Abnormal ilium morphology	4322	MMP13	OMIM:602111
HP:0002867	Abnormal ilium morphology	84572	GNPTG	OMIM:252605
HP:0002867	Abnormal ilium morphology	9131	AIFM1	OMIM:300232
HP:0002867	Abnormal ilium morphology	3549	IHH	ORPHA:63446
HP:0002867	Abnormal ilium morphology	3549	IHH	OMIM:607778
HP:0002867	Abnormal ilium morphology	1387	CREBBP	OMIM:180849
HP:0002867	Abnormal ilium morphology	2033	EP300	OMIM:180849
HP:0002867	Abnormal ilium morphology	411	ARSB	OMIM:253200
HP:0002867	Abnormal ilium morphology	633	BGN	OMIM:300106
HP:0002867	Abnormal ilium morphology	9321	TRIP11	OMIM:184260
HP:0002867	Abnormal ilium morphology	51715	RAB23	OMIM:201000
HP:0002867	Abnormal ilium morphology	65082	VPS33A	OMIM:617303
HP:0002867	Abnormal ilium morphology	2719	GPC3	OMIM:312870
HP:0002867	Abnormal ilium morphology	2239	GPC4	OMIM:312870
HP:0002867	Abnormal ilium morphology	3425	IDUA	OMIM:607014
HP:0002867	Abnormal ilium morphology	79158	GNPTAB	OMIM:252500
HP:0002867	Abnormal ilium morphology	2879	GPX4	OMIM:250220
HP:0002867	Abnormal ilium morphology	4148	MATN3	OMIM:608728
HP:0002867	Abnormal ilium morphology	9361	LONP1	OMIM:600373
HP:0002867	Abnormal ilium morphology	3636	INPPL1	OMIM:258480
HP:0002867	Abnormal ilium morphology	3636	INPPL1	ORPHA:2746
HP:0002867	Abnormal ilium morphology	5331	PLCB3	OMIM:618961
HP:0002867	Abnormal ilium morphology	100151683	RNU4ATAC	OMIM:226960
HP:0002867	Abnormal ilium morphology	153241	CEP120	OMIM:616300
HP:0002867	Abnormal ilium morphology	165	AEBP1	OMIM:618000
HP:0002867	Abnormal ilium morphology	51025	PAM16	OMIM:613320
HP:0002867	Abnormal ilium morphology	25871	NEPRO	OMIM:618853
HP:0002867	Abnormal ilium morphology	3339	HSPG2	OMIM:255800
HP:0002867	Abnormal ilium morphology	9382	COG1	OMIM:611209
HP:0002867	Abnormal ilium morphology	59341	TRPV4	ORPHA:93314
HP:0002867	Abnormal ilium morphology	2720	GLB1	OMIM:253010
HP:0002867	Abnormal ilium morphology	2588	GALNS	OMIM:253000
HP:0002867	Abnormal ilium morphology	1280	COL2A1	ORPHA:93316
HP:0002867	Abnormal ilium morphology	3417	IDH1	ORPHA:99646
HP:0002867	Abnormal ilium morphology	5745	PTH1R	ORPHA:79106
HP:0002867	Abnormal ilium morphology	10484	SEC23A	OMIM:607812
HP:0002867	Abnormal ilium morphology	10484	SEC23A	ORPHA:50814
HP:0002867	Abnormal ilium morphology	139285	AMER1	ORPHA:2780
HP:0002867	Abnormal ilium morphology	538	ATP7A	ORPHA:198
HP:0002867	Abnormal ilium morphology	4089	SMAD4	ORPHA:2588
HP:0002867	Abnormal ilium morphology	126792	B3GALT6	OMIM:271640
HP:0002867	Abnormal ilium morphology	4125	MAN2B1	ORPHA:309282
HP:0002867	Abnormal ilium morphology	10940	POP1	OMIM:617396
HP:0002867	Abnormal ilium morphology	3977	LIFR	OMIM:601559
HP:0002867	Abnormal ilium morphology	2317	FLNB	OMIM:112310
HP:0002867	Abnormal ilium morphology	4010	LMX1B	ORPHA:2614
HP:0002867	Abnormal ilium morphology	4010	LMX1B	OMIM:161200
HP:0002867	Abnormal ilium morphology	2261	FGFR3	ORPHA:15
HP:0002867	Abnormal ilium morphology	1302	COL11A2	ORPHA:1427
HP:0002867	Abnormal ilium morphology	81839	VANGL1	ORPHA:3027
HP:0002867	Abnormal ilium morphology	80199	FUZ	ORPHA:3027
HP:0002867	Abnormal ilium morphology	3106	HLA-B	OMIM:106300
HP:0002867	Abnormal ilium morphology	5251	PHEX	ORPHA:89936
HP:0002867	Abnormal ilium morphology	23169	SLC35D1	OMIM:269250
HP:0002867	Abnormal ilium morphology	9842	PLEKHM1	OMIM:611497
HP:0002867	Abnormal ilium morphology	117581	TWIST2	ORPHA:1807
HP:0002867	Abnormal ilium morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002867	Abnormal ilium morphology	1758	DMP1	ORPHA:289176
HP:0002867	Abnormal ilium morphology	5167	ENPP1	ORPHA:289176
HP:0002867	Abnormal ilium morphology	57728	WDR19	OMIM:614376
HP:0002868	Narrow iliac wing	6197	RPS6KA3	OMIM:303600
HP:0002868	Narrow iliac wing	6197	RPS6KA3	ORPHA:192
HP:0002868	Narrow iliac wing	26137	ZBTB20	OMIM:259050
HP:0002868	Narrow iliac wing	26137	ZBTB20	ORPHA:3042
HP:0002868	Narrow iliac wing	10484	SEC23A	OMIM:607812
HP:0002868	Narrow iliac wing	9871	SEC24D	OMIM:616294
HP:0002868	Narrow iliac wing	1513	CTSK	OMIM:265800
HP:0002868	Narrow iliac wing	9451	EIF2AK3	OMIM:226980
HP:0002868	Narrow iliac wing	1280	COL2A1	OMIM:609162
HP:0002868	Narrow iliac wing	54187	NANS	OMIM:610442
HP:0002868	Narrow iliac wing	6662	SOX9	OMIM:114290
HP:0002868	Narrow iliac wing	5830	PEX5	OMIM:616716
HP:0002869	Flared iliac wing	4921	DDR2	OMIM:271665
HP:0002869	Flared iliac wing	4322	MMP13	OMIM:602111
HP:0002869	Flared iliac wing	59341	TRPV4	OMIM:184252
HP:0002869	Flared iliac wing	59341	TRPV4	ORPHA:93314
HP:0002869	Flared iliac wing	59341	TRPV4	OMIM:156530
HP:0002869	Flared iliac wing	84572	GNPTG	OMIM:252605
HP:0002869	Flared iliac wing	9131	AIFM1	OMIM:300232
HP:0002869	Flared iliac wing	5251	PHEX	ORPHA:89936
HP:0002869	Flared iliac wing	3549	IHH	ORPHA:63446
HP:0002869	Flared iliac wing	3549	IHH	OMIM:607778
HP:0002869	Flared iliac wing	1387	CREBBP	OMIM:180849
HP:0002869	Flared iliac wing	2033	EP300	OMIM:180849
HP:0002869	Flared iliac wing	411	ARSB	OMIM:253200
HP:0002869	Flared iliac wing	633	BGN	OMIM:300106
HP:0002869	Flared iliac wing	9321	TRIP11	OMIM:184260
HP:0002869	Flared iliac wing	51715	RAB23	OMIM:201000
HP:0002869	Flared iliac wing	2720	GLB1	OMIM:230650
HP:0002869	Flared iliac wing	2720	GLB1	ORPHA:79255
HP:0002869	Flared iliac wing	65082	VPS33A	OMIM:617303
HP:0002869	Flared iliac wing	2719	GPC3	OMIM:312870
HP:0002869	Flared iliac wing	2239	GPC4	OMIM:312870
HP:0002869	Flared iliac wing	3425	IDUA	OMIM:607014
HP:0002869	Flared iliac wing	79158	GNPTAB	OMIM:252500
HP:0002869	Flared iliac wing	2316	FLNA	ORPHA:90652
HP:0002869	Flared iliac wing	2879	GPX4	OMIM:250220
HP:0002869	Flared iliac wing	126792	B3GALT6	OMIM:271640
HP:0002870	Obstructive sleep apnea	8367	H4C5	OMIM:619950
HP:0002870	Obstructive sleep apnea	57003	CCDC47	OMIM:618268
HP:0002870	Obstructive sleep apnea	1763	DNA2	OMIM:615156
HP:0002870	Obstructive sleep apnea	1763	DNA2	ORPHA:352470
HP:0002870	Obstructive sleep apnea	23126	POGZ	OMIM:616364
HP:0002870	Obstructive sleep apnea	23126	POGZ	ORPHA:468678
HP:0002870	Obstructive sleep apnea	51604	PIGT	ORPHA:369837
HP:0002870	Obstructive sleep apnea	1387	CREBBP	OMIM:180849
HP:0002870	Obstructive sleep apnea	1387	CREBBP	ORPHA:353281
HP:0002870	Obstructive sleep apnea	1387	CREBBP	ORPHA:353277
HP:0002870	Obstructive sleep apnea	2033	EP300	OMIM:180849
HP:0002870	Obstructive sleep apnea	2033	EP300	ORPHA:353284
HP:0002870	Obstructive sleep apnea	59341	TRPV4	OMIM:606071
HP:0002870	Obstructive sleep apnea	7015	TERT	OMIM:614742
HP:0002870	Obstructive sleep apnea	23314	SATB2	ORPHA:251028
HP:0002870	Obstructive sleep apnea	775	CACNA1C	OMIM:620029
HP:0002870	Obstructive sleep apnea	8087	FXR1	OMIM:618822
HP:0002870	Obstructive sleep apnea	8087	FXR1	OMIM:618823
HP:0002870	Obstructive sleep apnea	1756	DMD	OMIM:310200
HP:0002870	Obstructive sleep apnea	259232	NALCN	ORPHA:371364
HP:0002870	Obstructive sleep apnea	285175	UNC80	ORPHA:371364
HP:0002870	Obstructive sleep apnea	781	CACNA2D1	OMIM:620149
HP:0002870	Obstructive sleep apnea	10128	LRPPRC	ORPHA:70472
HP:0002870	Obstructive sleep apnea	2887	GRB10	ORPHA:96182
HP:0002870	Obstructive sleep apnea	51611	DPH5	OMIM:620070
HP:0002870	Obstructive sleep apnea	5575	PRKAR1B	OMIM:619680
HP:0002870	Obstructive sleep apnea	6452	SH3BP2	ORPHA:184
HP:0002870	Obstructive sleep apnea	4854	NOTCH3	OMIM:130720
HP:0002870	Obstructive sleep apnea	7750	ZMYM2	OMIM:619522
HP:0002870	Obstructive sleep apnea	9578	CDC42BPB	OMIM:619841
HP:0002870	Obstructive sleep apnea	283489	CHAMP1	OMIM:616579
HP:0002870	Obstructive sleep apnea	27245	AHDC1	ORPHA:412069
HP:0002870	Obstructive sleep apnea	27245	AHDC1	OMIM:615829
HP:0002870	Obstructive sleep apnea	6492	SIM1	ORPHA:398079
HP:0002870	Obstructive sleep apnea	60482	SLC5A7	ORPHA:98914
HP:0002870	Obstructive sleep apnea	4649	MYO9A	ORPHA:98914
HP:0002870	Obstructive sleep apnea	1305	COL13A1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	1103	CHAT	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6576	SLC25A1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6843	VAMP1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	375790	AGRN	ORPHA:98914
HP:0002870	Obstructive sleep apnea	127833	SYT2	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6572	SLC18A3	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6616	SNAP25	ORPHA:98914
HP:0002870	Obstructive sleep apnea	55768	NGLY1	ORPHA:404454
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:98754
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:177904
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:177901
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:98754
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:177904
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:177901
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:98754
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:177904
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:177901
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:398069
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:98754
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:177904
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:177901
HP:0002870	Obstructive sleep apnea	79158	GNPTAB	ORPHA:576
HP:0002870	Obstructive sleep apnea	23299	BICD2	OMIM:615290
HP:0002870	Obstructive sleep apnea	6497	SKI	OMIM:182212
HP:0002870	Obstructive sleep apnea	4841	NONO	ORPHA:466791
HP:0002870	Obstructive sleep apnea	4784	NFIX	OMIM:602535
HP:0002870	Obstructive sleep apnea	8888	MCM3AP	OMIM:618124
HP:0002870	Obstructive sleep apnea	112939	NACC1	OMIM:617393
HP:0002870	Obstructive sleep apnea	3423	IDS	OMIM:309900
HP:0002870	Obstructive sleep apnea	650	BMP2	OMIM:617877
HP:0002870	Obstructive sleep apnea	57479	PRR12	OMIM:619539
HP:0002870	Obstructive sleep apnea	2990	GUSB	OMIM:253220
HP:0002870	Obstructive sleep apnea	23219	FBXO28	OMIM:619777
HP:0002870	Obstructive sleep apnea	1513	CTSK	ORPHA:763
HP:0002870	Obstructive sleep apnea	2261	FGFR3	ORPHA:15
HP:0002870	Obstructive sleep apnea	7703	PCGF2	OMIM:618371
HP:0002870	Obstructive sleep apnea	9401	RECQL4	OMIM:218600
HP:0002870	Obstructive sleep apnea	171023	ASXL1	ORPHA:97297
HP:0002870	Obstructive sleep apnea	4340	MOG	OMIM:614250
HP:0002870	Obstructive sleep apnea	372	ARCN1	OMIM:617164
HP:0002870	Obstructive sleep apnea	2902	GRIN1	OMIM:614254
HP:0002870	Obstructive sleep apnea	1822	ATN1	OMIM:618494
HP:0002870	Obstructive sleep apnea	1642	DDB1	OMIM:619426
HP:0002870	Obstructive sleep apnea	55770	EXOC2	OMIM:619306
HP:0002870	Obstructive sleep apnea	1906	EDN1	ORPHA:137888
HP:0002870	Obstructive sleep apnea	5332	PLCB4	ORPHA:137888
HP:0002870	Obstructive sleep apnea	2773	GNAI3	ORPHA:137888
HP:0002870	Obstructive sleep apnea	9230	RAB11B	OMIM:617807
HP:0002870	Obstructive sleep apnea	3265	HRAS	OMIM:218040
HP:0002870	Obstructive sleep apnea	3425	IDUA	OMIM:607016
HP:0002870	Obstructive sleep apnea	3425	IDUA	OMIM:607015
HP:0002870	Obstructive sleep apnea	760	CA2	ORPHA:2785
HP:0002871	Central apnea	6638	SNRPN	ORPHA:177904
HP:0002871	Central apnea	6638	SNRPN	ORPHA:177901
HP:0002871	Central apnea	6638	SNRPN	ORPHA:98754
HP:0002871	Central apnea	4692	NDN	ORPHA:177904
HP:0002871	Central apnea	4692	NDN	ORPHA:177901
HP:0002871	Central apnea	4692	NDN	ORPHA:98754
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:177904
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:177901
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:98754
HP:0002871	Central apnea	4948	OCA2	ORPHA:177904
HP:0002871	Central apnea	4948	OCA2	ORPHA:177901
HP:0002871	Central apnea	4948	OCA2	ORPHA:98754
HP:0002871	Central apnea	9895	TECPR2	ORPHA:320385
HP:0002871	Central apnea	9895	TECPR2	OMIM:615031
HP:0002871	Central apnea	2261	FGFR3	OMIM:616482
HP:0002871	Central apnea	2260	FGFR1	ORPHA:220386
HP:0002871	Central apnea	2260	FGFR1	ORPHA:93924
HP:0002871	Central apnea	28514	DLL1	ORPHA:220386
HP:0002871	Central apnea	28514	DLL1	ORPHA:93926
HP:0002871	Central apnea	28514	DLL1	ORPHA:93924
HP:0002871	Central apnea	28514	DLL1	ORPHA:93925
HP:0002871	Central apnea	10735	STAG2	ORPHA:220386
HP:0002871	Central apnea	10735	STAG2	ORPHA:93925
HP:0002871	Central apnea	2253	FGF8	ORPHA:220386
HP:0002871	Central apnea	2253	FGF8	ORPHA:93926
HP:0002871	Central apnea	2253	FGF8	ORPHA:93924
HP:0002871	Central apnea	2253	FGF8	ORPHA:93925
HP:0002871	Central apnea	8243	SMC1A	ORPHA:220386
HP:0002871	Central apnea	6496	SIX3	ORPHA:220386
HP:0002871	Central apnea	6496	SIX3	ORPHA:93926
HP:0002871	Central apnea	6496	SIX3	ORPHA:93924
HP:0002871	Central apnea	6496	SIX3	ORPHA:93925
HP:0002871	Central apnea	7050	TGIF1	ORPHA:220386
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93926
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93924
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93925
HP:0002871	Central apnea	4838	NODAL	ORPHA:220386
HP:0002871	Central apnea	4838	NODAL	ORPHA:93926
HP:0002871	Central apnea	4838	NODAL	ORPHA:93924
HP:0002871	Central apnea	4838	NODAL	ORPHA:93925
HP:0002871	Central apnea	6469	SHH	ORPHA:220386
HP:0002871	Central apnea	6469	SHH	ORPHA:93926
HP:0002871	Central apnea	6469	SHH	ORPHA:93924
HP:0002871	Central apnea	6469	SHH	ORPHA:93925
HP:0002871	Central apnea	7546	ZIC2	ORPHA:220386
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93926
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93924
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93925
HP:0002871	Central apnea	6491	STIL	ORPHA:220386
HP:0002871	Central apnea	6491	STIL	ORPHA:93926
HP:0002871	Central apnea	6491	STIL	ORPHA:93924
HP:0002871	Central apnea	6491	STIL	ORPHA:93925
HP:0002871	Central apnea	2619	GAS1	ORPHA:220386
HP:0002871	Central apnea	2619	GAS1	ORPHA:93926
HP:0002871	Central apnea	2619	GAS1	ORPHA:93924
HP:0002871	Central apnea	2619	GAS1	ORPHA:93925
HP:0002871	Central apnea	84976	DISP1	ORPHA:220386
HP:0002871	Central apnea	84976	DISP1	ORPHA:93926
HP:0002871	Central apnea	84976	DISP1	ORPHA:93924
HP:0002871	Central apnea	84976	DISP1	ORPHA:93925
HP:0002871	Central apnea	2736	GLI2	ORPHA:220386
HP:0002871	Central apnea	2736	GLI2	ORPHA:93926
HP:0002871	Central apnea	2736	GLI2	ORPHA:93924
HP:0002871	Central apnea	2736	GLI2	ORPHA:93925
HP:0002871	Central apnea	8928	FOXH1	ORPHA:220386
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93926
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93924
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93925
HP:0002871	Central apnea	5727	PTCH1	ORPHA:220386
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93926
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93924
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93925
HP:0002871	Central apnea	50937	CDON	ORPHA:220386
HP:0002871	Central apnea	50937	CDON	ORPHA:93926
HP:0002871	Central apnea	50937	CDON	ORPHA:93924
HP:0002871	Central apnea	50937	CDON	ORPHA:93925
HP:0002871	Central apnea	54902	TTC19	OMIM:615157
HP:0002871	Central apnea	80184	CEP290	OMIM:610188
HP:0002871	Central apnea	51259	TMEM216	OMIM:608091
HP:0002871	Central apnea	56623	INPP5E	OMIM:213300
HP:0002871	Central apnea	493856	CISD2	ORPHA:3463
HP:0002871	Central apnea	7466	WFS1	ORPHA:3463
HP:0002871	Central apnea	415	ARSL	ORPHA:79345
HP:0002871	Central apnea	23299	BICD2	OMIM:618291
HP:0002871	Central apnea	54806	AHI1	OMIM:608629
HP:0002871	Central apnea	283989	TSEN54	ORPHA:166063
HP:0002871	Central apnea	6857	SYT1	ORPHA:522077
HP:0002871	Central apnea	23322	RPGRIP1L	OMIM:611560
HP:0002871	Central apnea	478	ATP1A3	OMIM:619606
HP:0002871	Central apnea	23007	PLCH1	ORPHA:93925
HP:0002871	Central apnea	10716	TBR1	ORPHA:1617
HP:0002871	Central apnea	5660	PSAP	OMIM:611722
HP:0002871	Central apnea	6513	SLC2A1	ORPHA:71277
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1103	CHAT	OMIM:254210
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1103	CHAT	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	60482	SLC5A7	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	4649	MYO9A	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1305	COL13A1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6576	SLC25A1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6843	VAMP1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	375790	AGRN	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	127833	SYT2	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6572	SLC18A3	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6616	SNAP25	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1145	CHRNE	OMIM:605809
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	5160	PDHA1	OMIM:312170
HP:0002875	Exertional dyspnea	3717	JAK2	OMIM:133100
HP:0002875	Exertional dyspnea	10019	SH2B3	OMIM:133100
HP:0002875	Exertional dyspnea	2057	EPOR	OMIM:133100
HP:0002875	Exertional dyspnea	2057	EPOR	ORPHA:90042
HP:0002875	Exertional dyspnea	291	SLC25A4	ORPHA:254892
HP:0002875	Exertional dyspnea	5428	POLG	ORPHA:254892
HP:0002875	Exertional dyspnea	56652	TWNK	ORPHA:254892
HP:0002875	Exertional dyspnea	11232	POLG2	ORPHA:254892
HP:0002875	Exertional dyspnea	50484	RRM2B	ORPHA:254892
HP:0002875	Exertional dyspnea	7092	TLL1	ORPHA:99103
HP:0002875	Exertional dyspnea	7092	TLL1	ORPHA:99106
HP:0002875	Exertional dyspnea	57057	TBX20	ORPHA:99103
HP:0002875	Exertional dyspnea	4624	MYH6	ORPHA:99103
HP:0002875	Exertional dyspnea	1482	NKX2-5	ORPHA:99103
HP:0002875	Exertional dyspnea	70	ACTC1	ORPHA:99103
HP:0002875	Exertional dyspnea	10370	CITED2	ORPHA:99103
HP:0002875	Exertional dyspnea	10370	CITED2	ORPHA:99105
HP:0002875	Exertional dyspnea	2626	GATA4	ORPHA:99103
HP:0002875	Exertional dyspnea	2627	GATA6	ORPHA:99103
HP:0002875	Exertional dyspnea	1727	CYB5R3	OMIM:250800
HP:0002875	Exertional dyspnea	1727	CYB5R3	ORPHA:621
HP:0002875	Exertional dyspnea	4574	MT-TS1	OMIM:220110
HP:0002875	Exertional dyspnea	4570	MT-TN	OMIM:220110
HP:0002875	Exertional dyspnea	6834	SURF1	OMIM:220110
HP:0002875	Exertional dyspnea	1763	DNA2	OMIM:615156
HP:0002875	Exertional dyspnea	1763	DNA2	ORPHA:352470
HP:0002875	Exertional dyspnea	7414	VCL	OMIM:613255
HP:0002875	Exertional dyspnea	84334	COA8	ORPHA:436271
HP:0002875	Exertional dyspnea	4629	MYH11	ORPHA:229
HP:0002875	Exertional dyspnea	4629	MYH11	ORPHA:91387
HP:0002875	Exertional dyspnea	63895	PIEZO2	OMIM:108145
HP:0002875	Exertional dyspnea	1528	CYB5A	ORPHA:621
HP:0002875	Exertional dyspnea	4000	LMNA	OMIM:181350
HP:0002875	Exertional dyspnea	4000	LMNA	ORPHA:740
HP:0002875	Exertional dyspnea	5339	PLEC	ORPHA:254361
HP:0002875	Exertional dyspnea	10269	ZMPSTE24	ORPHA:740
HP:0002875	Exertional dyspnea	6440	SFTPC	OMIM:178500
HP:0002875	Exertional dyspnea	6440	SFTPC	ORPHA:2032
HP:0002875	Exertional dyspnea	727897	MUC5B	OMIM:178500
HP:0002875	Exertional dyspnea	727897	MUC5B	ORPHA:2032
HP:0002875	Exertional dyspnea	729238	SFTPA2	OMIM:178500
HP:0002875	Exertional dyspnea	729238	SFTPA2	ORPHA:2032
HP:0002875	Exertional dyspnea	7015	TERT	OMIM:178500
HP:0002875	Exertional dyspnea	7015	TERT	ORPHA:2032
HP:0002875	Exertional dyspnea	57570	TRMT5	OMIM:616539
HP:0002875	Exertional dyspnea	8292	COLQ	ORPHA:98915
HP:0002875	Exertional dyspnea	3913	LAMB2	ORPHA:98915
HP:0002875	Exertional dyspnea	5573	PRKAR1A	ORPHA:615
HP:0002875	Exertional dyspnea	5573	PRKAR1A	ORPHA:520
HP:0002875	Exertional dyspnea	10551	AGR2	OMIM:620233
HP:0002875	Exertional dyspnea	6329	SCN4A	ORPHA:98913
HP:0002875	Exertional dyspnea	1134	CHRNA1	ORPHA:98913
HP:0002875	Exertional dyspnea	4038	LRP4	ORPHA:98913
HP:0002875	Exertional dyspnea	1305	COL13A1	ORPHA:98913
HP:0002875	Exertional dyspnea	1140	CHRNB1	ORPHA:98913
HP:0002875	Exertional dyspnea	1144	CHRND	ORPHA:98913
HP:0002875	Exertional dyspnea	1145	CHRNE	ORPHA:98913
HP:0002875	Exertional dyspnea	4593	MUSK	ORPHA:98913
HP:0002875	Exertional dyspnea	5913	RAPSN	ORPHA:98913
HP:0002875	Exertional dyspnea	375790	AGRN	ORPHA:98913
HP:0002875	Exertional dyspnea	221264	AK9	ORPHA:98913
HP:0002875	Exertional dyspnea	285489	DOK7	ORPHA:98913
HP:0002875	Exertional dyspnea	2022	ENG	OMIM:187300
HP:0002875	Exertional dyspnea	34	ACADM	ORPHA:42
HP:0002875	Exertional dyspnea	79572	ATP13A3	OMIM:265400
HP:0002875	Exertional dyspnea	4625	MYH7	OMIM:255160
HP:0002875	Exertional dyspnea	79991	STN1	ORPHA:2032
HP:0002875	Exertional dyspnea	653509	SFTPA1	ORPHA:2032
HP:0002875	Exertional dyspnea	21	ABCA3	ORPHA:2032
HP:0002875	Exertional dyspnea	21	ABCA3	OMIM:610921
HP:0002875	Exertional dyspnea	1832	DSP	ORPHA:2032
HP:0002875	Exertional dyspnea	10144	FAM13A	ORPHA:2032
HP:0002875	Exertional dyspnea	23250	ATP11A	ORPHA:2032
HP:0002875	Exertional dyspnea	91039	DPP9	ORPHA:2032
HP:0002875	Exertional dyspnea	51750	RTEL1	ORPHA:2032
HP:0002875	Exertional dyspnea	7012	TERC	ORPHA:2032
HP:0002875	Exertional dyspnea	5073	PARN	ORPHA:2032
HP:0002875	Exertional dyspnea	4634	MYL3	OMIM:608751
HP:0002875	Exertional dyspnea	5837	PYGM	ORPHA:368
HP:0002875	Exertional dyspnea	6774	STAT3	ORPHA:520
HP:0002875	Exertional dyspnea	5371	PML	ORPHA:520
HP:0002875	Exertional dyspnea	5914	RARA	ORPHA:520
HP:0002875	Exertional dyspnea	359948	IRF2BP2	ORPHA:520
HP:0002875	Exertional dyspnea	81608	FIP1L1	ORPHA:520
HP:0002875	Exertional dyspnea	4869	NPM1	ORPHA:520
HP:0002875	Exertional dyspnea	54880	BCOR	ORPHA:520
HP:0002875	Exertional dyspnea	64859	NABP1	ORPHA:520
HP:0002875	Exertional dyspnea	6777	STAT5B	ORPHA:520
HP:0002875	Exertional dyspnea	4926	NUMA1	ORPHA:520
HP:0002875	Exertional dyspnea	7704	ZBTB16	ORPHA:520
HP:0002875	Exertional dyspnea	79718	TBL1XR1	ORPHA:520
HP:0002875	Exertional dyspnea	440275	EIF2AK4	ORPHA:199241
HP:0002875	Exertional dyspnea	1439	CSF2RB	OMIM:614370
HP:0002875	Exertional dyspnea	2992	GYG1	ORPHA:263297
HP:0002875	Exertional dyspnea	10568	SLC34A2	ORPHA:60025
HP:0002875	Exertional dyspnea	7134	TNNC1	OMIM:613243
HP:0002875	Exertional dyspnea	4703	NEB	ORPHA:399103
HP:0002875	Exertional dyspnea	7046	TGFBR1	ORPHA:91387
HP:0002875	Exertional dyspnea	7048	TGFBR2	ORPHA:91387
HP:0002875	Exertional dyspnea	4015	LOX	ORPHA:91387
HP:0002875	Exertional dyspnea	4087	SMAD2	ORPHA:91387
HP:0002875	Exertional dyspnea	7043	TGFB3	ORPHA:91387
HP:0002875	Exertional dyspnea	4088	SMAD3	ORPHA:91387
HP:0002875	Exertional dyspnea	7042	TGFB2	ORPHA:91387
HP:0002875	Exertional dyspnea	4089	SMAD4	ORPHA:91387
HP:0002875	Exertional dyspnea	2200	FBN1	ORPHA:91387
HP:0002875	Exertional dyspnea	59	ACTA2	ORPHA:91387
HP:0002875	Exertional dyspnea	5592	PRKG1	ORPHA:91387
HP:0002875	Exertional dyspnea	2301	FOXE3	ORPHA:91387
HP:0002875	Exertional dyspnea	4144	MAT2A	ORPHA:91387
HP:0002875	Exertional dyspnea	23493	HEY2	ORPHA:91387
HP:0002875	Exertional dyspnea	8076	MFAP5	ORPHA:91387
HP:0002875	Exertional dyspnea	4638	MYLK	ORPHA:91387
HP:0002875	Exertional dyspnea	2006	ELN	ORPHA:91387
HP:0002876	Episodic tachypnea	79600	TCTN1	ORPHA:475
HP:0002876	Episodic tachypnea	79848	CSPP1	ORPHA:475
HP:0002876	Episodic tachypnea	51684	SUFU	ORPHA:475
HP:0002876	Episodic tachypnea	54806	AHI1	ORPHA:475
HP:0002876	Episodic tachypnea	54806	AHI1	OMIM:608629
HP:0002876	Episodic tachypnea	153241	CEP120	ORPHA:475
HP:0002876	Episodic tachypnea	65250	CPLANE1	ORPHA:475
HP:0002876	Episodic tachypnea	65250	CPLANE1	ORPHA:2754
HP:0002876	Episodic tachypnea	91147	TMEM67	ORPHA:475
HP:0002876	Episodic tachypnea	200894	ARL13B	ORPHA:475
HP:0002876	Episodic tachypnea	9731	CEP104	ORPHA:475
HP:0002876	Episodic tachypnea	219844	HYLS1	ORPHA:475
HP:0002876	Episodic tachypnea	23247	KATNIP	ORPHA:475
HP:0002876	Episodic tachypnea	219854	TMEM218	ORPHA:475
HP:0002876	Episodic tachypnea	54903	MKS1	ORPHA:475
HP:0002876	Episodic tachypnea	95681	CEP41	ORPHA:475
HP:0002876	Episodic tachypnea	9786	KIAA0586	ORPHA:475
HP:0002876	Episodic tachypnea	56623	INPP5E	ORPHA:475
HP:0002876	Episodic tachypnea	56623	INPP5E	OMIM:213300
HP:0002876	Episodic tachypnea	79867	TCTN2	ORPHA:475
HP:0002876	Episodic tachypnea	80776	B9D2	ORPHA:475
HP:0002876	Episodic tachypnea	10464	PIBF1	ORPHA:475
HP:0002876	Episodic tachypnea	80210	ARMC9	ORPHA:475
HP:0002876	Episodic tachypnea	23116	TOGARAM1	ORPHA:475
HP:0002876	Episodic tachypnea	25776	CBY1	ORPHA:475
HP:0002876	Episodic tachypnea	27077	B9D1	ORPHA:475
HP:0002876	Episodic tachypnea	403	ARL3	ORPHA:475
HP:0002876	Episodic tachypnea	65062	TMEM237	ORPHA:475
HP:0002876	Episodic tachypnea	37	ACADVL	ORPHA:26793
HP:0002876	Episodic tachypnea	6792	CDKL5	ORPHA:3095
HP:0002876	Episodic tachypnea	22854	NTNG1	ORPHA:3095
HP:0002876	Episodic tachypnea	9568	GABBR2	ORPHA:3095
HP:0002876	Episodic tachypnea	4204	MECP2	ORPHA:3095
HP:0002876	Episodic tachypnea	8243	SMC1A	ORPHA:3095
HP:0002876	Episodic tachypnea	7385	UQCRC2	OMIM:615160
HP:0002876	Episodic tachypnea	57545	CC2D2A	OMIM:612285
HP:0002876	Episodic tachypnea	23322	RPGRIP1L	OMIM:611560
HP:0002876	Episodic tachypnea	80184	CEP290	OMIM:610188
HP:0002876	Episodic tachypnea	51259	TMEM216	OMIM:608091
HP:0002876	Episodic tachypnea	51259	TMEM216	ORPHA:2754
HP:0002876	Episodic tachypnea	2203	FBP1	ORPHA:348
HP:0002876	Episodic tachypnea	10210	TOPORS	ORPHA:2754
HP:0002876	Episodic tachypnea	9851	KIAA0753	ORPHA:2754
HP:0002876	Episodic tachypnea	26123	TCTN3	ORPHA:2754
HP:0002876	Episodic tachypnea	5147	PDE6D	ORPHA:2754
HP:0002876	Episodic tachypnea	8481	OFD1	ORPHA:2754
HP:0002876	Episodic tachypnea	317662	FAM149B1	ORPHA:2754
HP:0002876	Episodic tachypnea	374654	KIF7	ORPHA:2754
HP:0002877	Nocturnal hypoventilation	3190	HNRNPK	ORPHA:453504
HP:0002877	Nocturnal hypoventilation	3190	HNRNPK	ORPHA:352665
HP:0002877	Nocturnal hypoventilation	57190	SELENON	OMIM:602771
HP:0002877	Nocturnal hypoventilation	57190	SELENON	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	4625	MYH7	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	7273	TTN	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	7273	TTN	OMIM:603689
HP:0002877	Nocturnal hypoventilation	58	ACTA1	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	7169	TPM2	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	4703	NEB	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	10324	KLHL41	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	56203	LMOD3	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	1073	CFL2	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	1303	COL12A1	OMIM:616470
HP:0002877	Nocturnal hypoventilation	1291	COL6A1	OMIM:254090
HP:0002877	Nocturnal hypoventilation	1292	COL6A2	OMIM:254090
HP:0002877	Nocturnal hypoventilation	1293	COL6A3	OMIM:254090
HP:0002877	Nocturnal hypoventilation	113278	SLC52A3	OMIM:211530
HP:0002877	Nocturnal hypoventilation	79147	FKRP	OMIM:607155
HP:0002877	Nocturnal hypoventilation	8929	PHOX2B	OMIM:209880
HP:0002878	Respiratory failure	1832	DSP	ORPHA:158687
HP:0002878	Respiratory failure	3728	JUP	ORPHA:158687
HP:0002878	Respiratory failure	28981	IFT81	OMIM:617895
HP:0002878	Respiratory failure	4574	MT-TS1	OMIM:220110
HP:0002878	Respiratory failure	4570	MT-TN	OMIM:220110
HP:0002878	Respiratory failure	6834	SURF1	OMIM:220110
HP:0002878	Respiratory failure	6834	SURF1	ORPHA:70474
HP:0002878	Respiratory failure	8506	CNTNAP1	OMIM:618186
HP:0002878	Respiratory failure	59341	TRPV4	OMIM:606071
HP:0002878	Respiratory failure	59341	TRPV4	OMIM:156530
HP:0002878	Respiratory failure	7167	TPI1	OMIM:615512
HP:0002878	Respiratory failure	79848	CSPP1	OMIM:615636
HP:0002878	Respiratory failure	1756	DMD	OMIM:310200
HP:0002878	Respiratory failure	10102	TSFM	OMIM:610505
HP:0002878	Respiratory failure	4173	MCM4	OMIM:609981
HP:0002878	Respiratory failure	81570	CLPB	ORPHA:445038
HP:0002878	Respiratory failure	1303	COL12A1	ORPHA:75840
HP:0002878	Respiratory failure	1291	COL6A1	ORPHA:75840
HP:0002878	Respiratory failure	1292	COL6A2	ORPHA:75840
HP:0002878	Respiratory failure	1293	COL6A3	ORPHA:75840
HP:0002878	Respiratory failure	9499	MYOT	ORPHA:266
HP:0002878	Respiratory failure	3909	LAMA3	ORPHA:79404
HP:0002878	Respiratory failure	3918	LAMC2	ORPHA:79404
HP:0002878	Respiratory failure	3914	LAMB3	ORPHA:79404
HP:0002878	Respiratory failure	26580	BSCL2	ORPHA:363400
HP:0002878	Respiratory failure	54768	HYDIN	OMIM:608647
HP:0002878	Respiratory failure	54768	HYDIN	ORPHA:244
HP:0002878	Respiratory failure	91942	NDUFAF2	OMIM:618233
HP:0002878	Respiratory failure	54968	TMEM70	ORPHA:1194
HP:0002878	Respiratory failure	283989	TSEN54	OMIM:225753
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:171433
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:171430
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:2020
HP:0002878	Respiratory failure	4703	NEB	ORPHA:171433
HP:0002878	Respiratory failure	4703	NEB	ORPHA:171430
HP:0002878	Respiratory failure	4703	NEB	OMIM:619334
HP:0002878	Respiratory failure	10324	KLHL41	ORPHA:171433
HP:0002878	Respiratory failure	10324	KLHL41	ORPHA:171430
HP:0002878	Respiratory failure	7170	TPM3	ORPHA:171433
HP:0002878	Respiratory failure	7170	TPM3	ORPHA:2020
HP:0002878	Respiratory failure	388015	RTL1	ORPHA:254528
HP:0002878	Respiratory failure	388015	RTL1	ORPHA:96334
HP:0002878	Respiratory failure	8788	DLK1	ORPHA:254528
HP:0002878	Respiratory failure	8788	DLK1	ORPHA:96334
HP:0002878	Respiratory failure	55384	MEG3	ORPHA:254528
HP:0002878	Respiratory failure	55384	MEG3	ORPHA:96334
HP:0002878	Respiratory failure	6536	SLC6A9	OMIM:617301
HP:0002878	Respiratory failure	131377	KLHL40	ORPHA:171430
HP:0002878	Respiratory failure	131377	KLHL40	OMIM:615348
HP:0002878	Respiratory failure	56203	LMOD3	ORPHA:171430
HP:0002878	Respiratory failure	5160	PDHA1	OMIM:312170
HP:0002878	Respiratory failure	101060691	NUTM2B-AS1	OMIM:618637
HP:0002878	Respiratory failure	1841	DTYMK	OMIM:619847
HP:0002878	Respiratory failure	341640	FREM2	OMIM:617666
HP:0002878	Respiratory failure	84466	MEGF10	OMIM:614399
HP:0002878	Respiratory failure	5660	PSAP	OMIM:611722
HP:0002878	Respiratory failure	5660	PSAP	ORPHA:206436
HP:0002878	Respiratory failure	3508	IGHMBP2	OMIM:604320
HP:0002878	Respiratory failure	1410	CRYAB	OMIM:613869
HP:0002878	Respiratory failure	3908	LAMA2	ORPHA:258
HP:0002878	Respiratory failure	6440	SFTPC	OMIM:610913
HP:0002878	Respiratory failure	6440	SFTPC	ORPHA:70587
HP:0002878	Respiratory failure	6439	SFTPB	OMIM:265120
HP:0002878	Respiratory failure	6439	SFTPB	ORPHA:70587
HP:0002878	Respiratory failure	6904	TBCD	ORPHA:496641
HP:0002878	Respiratory failure	29925	GMPPB	ORPHA:370968
HP:0002878	Respiratory failure	79147	FKRP	ORPHA:370968
HP:0002878	Respiratory failure	79147	FKRP	OMIM:606612
HP:0002878	Respiratory failure	29954	POMT2	ORPHA:370968
HP:0002878	Respiratory failure	9215	LARGE1	ORPHA:370968
HP:0002878	Respiratory failure	10585	POMT1	ORPHA:370968
HP:0002878	Respiratory failure	90	ACVR1	OMIM:135100
HP:0002878	Respiratory failure	7084	TK2	ORPHA:254875
HP:0002878	Respiratory failure	25915	NDUFAF3	OMIM:618240
HP:0002878	Respiratory failure	25915	NDUFAF3	ORPHA:70474
HP:0002878	Respiratory failure	55037	PTCD3	OMIM:619057
HP:0002878	Respiratory failure	23511	NUP188	OMIM:618804
HP:0002878	Respiratory failure	91137	SLC25A46	OMIM:616505
HP:0002878	Respiratory failure	91137	SLC25A46	ORPHA:2254
HP:0002878	Respiratory failure	51008	ASCC1	OMIM:616867
HP:0002878	Respiratory failure	7273	TTN	ORPHA:609
HP:0002878	Respiratory failure	7273	TTN	OMIM:603689
HP:0002878	Respiratory failure	1509	CTSD	OMIM:610127
HP:0002878	Respiratory failure	9570	GOSR2	OMIM:620166
HP:0002878	Respiratory failure	21	ABCA3	OMIM:610921
HP:0002878	Respiratory failure	21	ABCA3	ORPHA:70587
HP:0002878	Respiratory failure	7080	NKX2-1	ORPHA:209905
HP:0002878	Respiratory failure	6606	SMN1	OMIM:253300
HP:0002878	Respiratory failure	81620	CDT1	ORPHA:2554
HP:0002878	Respiratory failure	5000	ORC4	ORPHA:2554
HP:0002878	Respiratory failure	23594	ORC6	ORPHA:2554
HP:0002878	Respiratory failure	8318	CDC45	ORPHA:2554
HP:0002878	Respiratory failure	990	CDC6	ORPHA:2554
HP:0002878	Respiratory failure	4998	ORC1	ORPHA:2554
HP:0002878	Respiratory failure	51053	GMNN	ORPHA:2554
HP:0002878	Respiratory failure	54539	NDUFB11	ORPHA:2556
HP:0002878	Respiratory failure	1349	COX7B	ORPHA:2556
HP:0002878	Respiratory failure	3052	HCCS	ORPHA:2556
HP:0002878	Respiratory failure	8802	SUCLG1	OMIM:245400
HP:0002878	Respiratory failure	4547	MTTP	ORPHA:14
HP:0002878	Respiratory failure	5354	PLP1	ORPHA:280210
HP:0002878	Respiratory failure	191	AHCY	ORPHA:88618
HP:0002878	Respiratory failure	57190	SELENON	ORPHA:2020
HP:0002878	Respiratory failure	4633	MYL2	ORPHA:2020
HP:0002878	Respiratory failure	3679	ITGA7	ORPHA:2020
HP:0002878	Respiratory failure	7169	TPM2	ORPHA:2020
HP:0002878	Respiratory failure	9200	HACD1	ORPHA:2020
HP:0002878	Respiratory failure	51776	MAP3K20	ORPHA:2020
HP:0002878	Respiratory failure	5277	PIGA	OMIM:300868
HP:0002878	Respiratory failure	4714	NDUFB8	OMIM:618252
HP:0002878	Respiratory failure	4714	NDUFB8	ORPHA:70474
HP:0002878	Respiratory failure	84896	ATAD1	OMIM:618011
HP:0002878	Respiratory failure	388962	BOLA3	OMIM:614299
HP:0002878	Respiratory failure	4632	MYL1	OMIM:618414
HP:0002878	Respiratory failure	89910	UBE3B	ORPHA:2707
HP:0002878	Respiratory failure	3265	HRAS	OMIM:218040
HP:0002878	Respiratory failure	27130	INVS	OMIM:602088
HP:0002878	Respiratory failure	11340	EXOSC8	OMIM:616081
HP:0002878	Respiratory failure	11340	EXOSC8	ORPHA:2254
HP:0002878	Respiratory failure	2261	FGFR3	OMIM:616482
HP:0002878	Respiratory failure	5190	PEX6	OMIM:614862
HP:0002878	Respiratory failure	5393	EXOSC9	ORPHA:2254
HP:0002878	Respiratory failure	23287	AGTPBP1	ORPHA:2254
HP:0002878	Respiratory failure	51010	EXOSC3	ORPHA:2254
HP:0002878	Respiratory failure	7443	VRK1	ORPHA:2254
HP:0002878	Respiratory failure	90624	LYRM7	OMIM:615838
HP:0002878	Respiratory failure	3032	HADHB	ORPHA:746
HP:0002878	Respiratory failure	3030	HADHA	ORPHA:746
HP:0002878	Respiratory failure	3030	HADHA	OMIM:609015
HP:0002878	Respiratory failure	10056	FARSB	OMIM:613658
HP:0002878	Respiratory failure	81031	SLC2A10	ORPHA:3342
HP:0002878	Respiratory failure	10128	LRPPRC	ORPHA:70472
HP:0002878	Respiratory failure	2624	GATA2	ORPHA:3226
HP:0002878	Respiratory failure	92667	MGME1	ORPHA:352447
HP:0002878	Respiratory failure	4720	NDUFS2	ORPHA:70474
HP:0002878	Respiratory failure	9997	SCO2	ORPHA:70474
HP:0002878	Respiratory failure	56052	ALG1	ORPHA:79327
HP:0002878	Respiratory failure	4089	SMAD4	OMIM:139210
HP:0002878	Respiratory failure	374354	NHLRC2	OMIM:618278
HP:0002878	Respiratory failure	128240	NAXE	OMIM:617186
HP:0002878	Respiratory failure	2548	GAA	ORPHA:308552
HP:0002878	Respiratory failure	10660	LBX1	OMIM:619483
HP:0002878	Respiratory failure	2273	FHL1	OMIM:300717
HP:0002878	Respiratory failure	10342	TFG	ORPHA:90117
HP:0002878	Respiratory failure	2674	GFRA1	OMIM:619887
HP:0002878	Respiratory failure	1605	DAG1	OMIM:616538
HP:0002878	Respiratory failure	7284	TUFM	OMIM:610678
HP:0002878	Respiratory failure	2316	FLNA	OMIM:304120
HP:0002878	Respiratory failure	2065	ERBB3	OMIM:607598
HP:0002878	Respiratory failure	6329	SCN4A	ORPHA:98913
HP:0002878	Respiratory failure	1134	CHRNA1	ORPHA:98913
HP:0002878	Respiratory failure	4038	LRP4	ORPHA:98913
HP:0002878	Respiratory failure	1305	COL13A1	ORPHA:98913
HP:0002878	Respiratory failure	1140	CHRNB1	ORPHA:98913
HP:0002878	Respiratory failure	1144	CHRND	ORPHA:98913
HP:0002878	Respiratory failure	1145	CHRNE	ORPHA:98913
HP:0002878	Respiratory failure	4593	MUSK	ORPHA:98913
HP:0002878	Respiratory failure	5913	RAPSN	ORPHA:98913
HP:0002878	Respiratory failure	375790	AGRN	ORPHA:98913
HP:0002878	Respiratory failure	221264	AK9	ORPHA:98913
HP:0002878	Respiratory failure	285489	DOK7	ORPHA:98913
HP:0002878	Respiratory failure	199221	DZIP1L	ORPHA:731
HP:0002878	Respiratory failure	5314	PKHD1	ORPHA:731
HP:0002878	Respiratory failure	56975	FAM20C	ORPHA:1832
HP:0002878	Respiratory failure	6310	ATXN1	ORPHA:98755
HP:0002878	Respiratory failure	1376	CPT2	OMIM:608836
HP:0002878	Respiratory failure	427	ASAH1	ORPHA:2590
HP:0002878	Respiratory failure	590	BCHE	ORPHA:132
HP:0002878	Respiratory failure	10577	NPC2	OMIM:607625
HP:0002878	Respiratory failure	64135	IFIH1	OMIM:619773
HP:0002878	Respiratory failure	6651	SON	ORPHA:500150
HP:0002878	Respiratory failure	200205	IBA57	OMIM:615330
HP:0002878	Respiratory failure	125988	MICOS13	OMIM:618329
HP:0002878	Respiratory failure	4724	NDUFS4	OMIM:252010
HP:0002878	Respiratory failure	2733	GLE1	OMIM:611890
HP:0002878	Respiratory failure	2733	GLE1	ORPHA:803
HP:0002878	Respiratory failure	100151683	RNU4ATAC	ORPHA:2636
HP:0002878	Respiratory failure	10133	OPTN	OMIM:613435
HP:0002878	Respiratory failure	10133	OPTN	ORPHA:803
HP:0002878	Respiratory failure	3458	IFNG	ORPHA:805
HP:0002878	Respiratory failure	7248	TSC1	ORPHA:805
HP:0002878	Respiratory failure	7249	TSC2	ORPHA:805
HP:0002878	Respiratory failure	55005	RMND1	OMIM:614922
HP:0002878	Respiratory failure	7415	VCP	OMIM:613954
HP:0002878	Respiratory failure	7415	VCP	ORPHA:803
HP:0002878	Respiratory failure	6261	RYR1	ORPHA:98905
HP:0002878	Respiratory failure	2744	GLS	OMIM:618328
HP:0002878	Respiratory failure	4683	NBN	ORPHA:647
HP:0002878	Respiratory failure	2581	GALC	ORPHA:206436
HP:0002878	Respiratory failure	25978	CHMP2B	ORPHA:803
HP:0002878	Respiratory failure	3178	HNRNPA1	ORPHA:803
HP:0002878	Respiratory failure	8148	TAF15	ORPHA:803
HP:0002878	Respiratory failure	5445	PON2	ORPHA:803
HP:0002878	Respiratory failure	9217	VAPB	ORPHA:803
HP:0002878	Respiratory failure	8878	SQSTM1	ORPHA:803
HP:0002878	Respiratory failure	5630	PRPH	ORPHA:803
HP:0002878	Respiratory failure	29110	TBK1	ORPHA:803
HP:0002878	Respiratory failure	55830	GLT8D1	ORPHA:803
HP:0002878	Respiratory failure	755	CFAP410	ORPHA:803
HP:0002878	Respiratory failure	10891	PPARGC1A	ORPHA:803
HP:0002878	Respiratory failure	6647	SOD1	ORPHA:803
HP:0002878	Respiratory failure	1639	DCTN1	ORPHA:803
HP:0002878	Respiratory failure	9896	FIG4	ORPHA:803
HP:0002878	Respiratory failure	5444	PON1	ORPHA:803
HP:0002878	Respiratory failure	5446	PON3	ORPHA:803
HP:0002878	Respiratory failure	4744	NEFH	ORPHA:803
HP:0002878	Respiratory failure	5216	PFN1	ORPHA:803
HP:0002878	Respiratory failure	9782	MATR3	ORPHA:803
HP:0002878	Respiratory failure	54209	TREM2	ORPHA:803
HP:0002878	Respiratory failure	283	ANG	ORPHA:803
HP:0002878	Respiratory failure	23435	TARDBP	ORPHA:803
HP:0002878	Respiratory failure	29978	UBQLN2	ORPHA:803
HP:0002878	Respiratory failure	2521	FUS	ORPHA:803
HP:0002878	Respiratory failure	4750	NEK1	ORPHA:803
HP:0002878	Respiratory failure	2043	EPHA4	ORPHA:803
HP:0002878	Respiratory failure	6311	ATXN2	ORPHA:803
HP:0002878	Respiratory failure	1610	DAO	ORPHA:803
HP:0002878	Respiratory failure	2066	ERBB4	ORPHA:803
HP:0002878	Respiratory failure	311	ANXA11	ORPHA:803
HP:0002878	Respiratory failure	23025	UNC13A	ORPHA:803
HP:0002878	Respiratory failure	899	CCNF	ORPHA:803
HP:0002878	Respiratory failure	400916	CHCHD10	ORPHA:803
HP:0002878	Respiratory failure	28962	OSTM1	OMIM:259720
HP:0002878	Respiratory failure	25981	DNAH1	ORPHA:244
HP:0002878	Respiratory failure	115948	ODAD3	ORPHA:244
HP:0002878	Respiratory failure	352909	DNAAF3	ORPHA:244
HP:0002878	Respiratory failure	27148	STK36	ORPHA:244
HP:0002878	Respiratory failure	51314	NME8	ORPHA:244
HP:0002878	Respiratory failure	92749	DRC1	ORPHA:244
HP:0002878	Respiratory failure	54970	TTC12	ORPHA:244
HP:0002878	Respiratory failure	152110	NEK10	ORPHA:244
HP:0002878	Respiratory failure	8481	OFD1	ORPHA:244
HP:0002878	Respiratory failure	2302	FOXJ1	ORPHA:244
HP:0002878	Respiratory failure	221421	RSPH9	ORPHA:244
HP:0002878	Respiratory failure	85478	CCDC65	ORPHA:244
HP:0002878	Respiratory failure	55036	CCDC40	ORPHA:244
HP:0002878	Respiratory failure	51364	ZMYND10	ORPHA:244
HP:0002878	Respiratory failure	64446	DNAI2	ORPHA:244
HP:0002878	Respiratory failure	6674	SPAG1	ORPHA:244
HP:0002878	Respiratory failure	83544	DNAL1	ORPHA:244
HP:0002878	Respiratory failure	89765	RSPH1	ORPHA:244
HP:0002878	Respiratory failure	83538	ODAD4	ORPHA:244
HP:0002878	Respiratory failure	200373	CFAP221	ORPHA:244
HP:0002878	Respiratory failure	374407	DNAJB13	ORPHA:244
HP:0002878	Respiratory failure	55172	DNAAF2	ORPHA:244
HP:0002878	Respiratory failure	161582	DNAAF4	ORPHA:244
HP:0002878	Respiratory failure	2622	GAS8	ORPHA:244
HP:0002878	Respiratory failure	23639	DNAAF11	ORPHA:244
HP:0002878	Respiratory failure	27019	DNAI1	ORPHA:244
HP:0002878	Respiratory failure	345895	RSPH4A	ORPHA:244
HP:0002878	Respiratory failure	54919	DNAAF5	ORPHA:244
HP:0002878	Respiratory failure	6103	RPGR	ORPHA:244
HP:0002878	Respiratory failure	388389	CCDC103	ORPHA:244
HP:0002878	Respiratory failure	93233	ODAD1	ORPHA:244
HP:0002878	Respiratory failure	55130	ODAD2	ORPHA:244
HP:0002878	Respiratory failure	1767	DNAH5	ORPHA:244
HP:0002878	Respiratory failure	83861	RSPH3	ORPHA:244
HP:0002878	Respiratory failure	345643	MCIDAS	ORPHA:244
HP:0002878	Respiratory failure	56683	CFAP298	ORPHA:244
HP:0002878	Respiratory failure	79925	SPEF2	ORPHA:244
HP:0002878	Respiratory failure	10309	CCNO	ORPHA:244
HP:0002878	Respiratory failure	115399	LRRC56	ORPHA:244
HP:0002878	Respiratory failure	139212	DNAAF6	ORPHA:244
HP:0002878	Respiratory failure	123872	DNAAF1	ORPHA:244
HP:0002878	Respiratory failure	85016	CFAP300	ORPHA:244
HP:0002878	Respiratory failure	339829	CCDC39	ORPHA:244
HP:0002878	Respiratory failure	8701	DNAH11	ORPHA:244
HP:0002878	Respiratory failure	1770	DNAH9	ORPHA:244
HP:0002878	Respiratory failure	246176	GAS2L2	ORPHA:244
HP:0002878	Respiratory failure	23299	BICD2	OMIM:618291
HP:0002878	Respiratory failure	641	BLM	ORPHA:125
HP:0002878	Respiratory failure	27247	NFU1	OMIM:605711
HP:0002878	Respiratory failure	10568	SLC34A2	ORPHA:60025
HP:0002878	Respiratory failure	1892	ECHS1	OMIM:616277
HP:0002878	Respiratory failure	115286	SLC25A26	OMIM:616794
HP:0002878	Respiratory failure	9054	NFS1	OMIM:619386
HP:0002878	Respiratory failure	27429	HTRA2	OMIM:617248
HP:0002878	Respiratory failure	54938	SARS2	OMIM:613845
HP:0002878	Respiratory failure	165918	RNF168	ORPHA:420741
HP:0002878	Respiratory failure	84705	GTPBP3	ORPHA:444013
HP:0002878	Respiratory failure	4054	LTBP3	OMIM:617809
HP:0002879	Anisospondyly	1280	COL2A1	ORPHA:85198
HP:0002879	Anisospondyly	59341	TRPV4	OMIM:156530
HP:0002879	Anisospondyly	2316	FLNA	ORPHA:2484
HP:0002879	Anisospondyly	3339	HSPG2	OMIM:224410
HP:0002879	Anisospondyly	3339	HSPG2	ORPHA:1865
HP:0002882	Sudden episodic apnea	1103	CHAT	OMIM:254210
HP:0002882	Sudden episodic apnea	1103	CHAT	ORPHA:98914
HP:0002882	Sudden episodic apnea	6792	CDKL5	ORPHA:3095
HP:0002882	Sudden episodic apnea	22854	NTNG1	ORPHA:3095
HP:0002882	Sudden episodic apnea	9568	GABBR2	ORPHA:3095
HP:0002882	Sudden episodic apnea	4204	MECP2	ORPHA:3095
HP:0002882	Sudden episodic apnea	8243	SMC1A	ORPHA:3095
HP:0002882	Sudden episodic apnea	60482	SLC5A7	ORPHA:98914
HP:0002882	Sudden episodic apnea	4649	MYO9A	ORPHA:98914
HP:0002882	Sudden episodic apnea	1305	COL13A1	ORPHA:98914
HP:0002882	Sudden episodic apnea	6576	SLC25A1	ORPHA:98914
HP:0002882	Sudden episodic apnea	6843	VAMP1	ORPHA:98914
HP:0002882	Sudden episodic apnea	375790	AGRN	ORPHA:98914
HP:0002882	Sudden episodic apnea	127833	SYT2	ORPHA:98914
HP:0002882	Sudden episodic apnea	6572	SLC18A3	ORPHA:98914
HP:0002882	Sudden episodic apnea	6616	SNAP25	ORPHA:98914
HP:0002882	Sudden episodic apnea	1145	CHRNE	OMIM:605809
HP:0002882	Sudden episodic apnea	64116	SLC39A8	ORPHA:468699
HP:0002882	Sudden episodic apnea	10667	FARS2	ORPHA:466722
HP:0002882	Sudden episodic apnea	788	SLC25A20	ORPHA:159
HP:0002883	Hyperventilation	25792	CIZ1	ORPHA:420492
HP:0002883	Hyperventilation	11011	TLK2	OMIM:618050
HP:0002883	Hyperventilation	1137	CHRNA4	ORPHA:98784
HP:0002883	Hyperventilation	1135	CHRNA2	ORPHA:98784
HP:0002883	Hyperventilation	57010	CABP4	ORPHA:98784
HP:0002883	Hyperventilation	1141	CHRNB2	ORPHA:98784
HP:0002883	Hyperventilation	57582	KCNT1	ORPHA:98784
HP:0002883	Hyperventilation	1392	CRH	ORPHA:98784
HP:0002883	Hyperventilation	9681	DEPDC5	ORPHA:98784
HP:0002883	Hyperventilation	4535	MT-ND1	ORPHA:255210
HP:0002883	Hyperventilation	4536	MT-ND2	ORPHA:255210
HP:0002883	Hyperventilation	4537	MT-ND3	ORPHA:255210
HP:0002883	Hyperventilation	4538	MT-ND4	ORPHA:255210
HP:0002883	Hyperventilation	4567	MT-TL1	ORPHA:255210
HP:0002883	Hyperventilation	4578	MT-TW	ORPHA:255210
HP:0002883	Hyperventilation	4577	MT-TV	ORPHA:255210
HP:0002883	Hyperventilation	4508	MT-ATP6	ORPHA:255210
HP:0002883	Hyperventilation	4540	MT-ND5	ORPHA:255210
HP:0002883	Hyperventilation	4541	MT-ND6	ORPHA:255210
HP:0002883	Hyperventilation	4566	MT-TK	ORPHA:255210
HP:0002883	Hyperventilation	6792	CDKL5	OMIM:300672
HP:0002883	Hyperventilation	6513	SLC2A1	ORPHA:64280
HP:0002883	Hyperventilation	2562	GABRB3	ORPHA:64280
HP:0002883	Hyperventilation	2554	GABRA1	ORPHA:64280
HP:0002883	Hyperventilation	8912	CACNA1H	ORPHA:64280
HP:0002883	Hyperventilation	8629	JRK	ORPHA:64280
HP:0002883	Hyperventilation	2566	GABRG2	ORPHA:64280
HP:0002883	Hyperventilation	2203	FBP1	OMIM:229700
HP:0002883	Hyperventilation	6857	SYT1	ORPHA:522077
HP:0002883	Hyperventilation	200894	ARL13B	OMIM:612291
HP:0002883	Hyperventilation	7386	UQCRFS1	OMIM:618775
HP:0002883	Hyperventilation	26047	CNTNAP2	OMIM:610042
HP:0002883	Hyperventilation	816	CAMK2B	OMIM:617799
HP:0002883	Hyperventilation	9568	GABBR2	OMIM:617903
HP:0002883	Hyperventilation	3141	HLCS	OMIM:253270
HP:0002883	Hyperventilation	9378	NRXN1	OMIM:614325
HP:0002883	Hyperventilation	686	BTD	ORPHA:79241
HP:0002883	Hyperventilation	65250	CPLANE1	OMIM:614615
HP:0002883	Hyperventilation	6925	TCF4	ORPHA:2896
HP:0002883	Hyperventilation	8573	CASK	OMIM:300749
HP:0002883	Hyperventilation	4204	MECP2	OMIM:312750
HP:0002884	Hepatoblastoma	2239	GPC4	ORPHA:373
HP:0002884	Hepatoblastoma	2239	GPC4	OMIM:312870
HP:0002884	Hepatoblastoma	2719	GPC3	ORPHA:373
HP:0002884	Hepatoblastoma	2719	GPC3	OMIM:312870
HP:0002884	Hepatoblastoma	324	APC	ORPHA:261584
HP:0002884	Hepatoblastoma	324	APC	ORPHA:99818
HP:0002884	Hepatoblastoma	324	APC	OMIM:175100
HP:0002884	Hepatoblastoma	324	APC	ORPHA:79665
HP:0002884	Hepatoblastoma	1028	CDKN1C	OMIM:130650
HP:0002884	Hepatoblastoma	10984	KCNQ1OT1	OMIM:130650
HP:0002884	Hepatoblastoma	3481	IGF2	OMIM:130650
HP:0002884	Hepatoblastoma	3784	KCNQ1	OMIM:130650
HP:0002884	Hepatoblastoma	9652	SKIC3	ORPHA:84064
HP:0002884	Hepatoblastoma	6499	SKIC2	ORPHA:84064
HP:0002884	Hepatoblastoma	6597	SMARCA4	ORPHA:1465
HP:0002884	Hepatoblastoma	6598	SMARCB1	ORPHA:1465
HP:0002884	Hepatoblastoma	6659	SOX4	ORPHA:1465
HP:0002884	Hepatoblastoma	8289	ARID1A	ORPHA:1465
HP:0002884	Hepatoblastoma	5977	DPF2	ORPHA:1465
HP:0002884	Hepatoblastoma	6601	SMARCC2	ORPHA:1465
HP:0002884	Hepatoblastoma	6602	SMARCD1	ORPHA:1465
HP:0002884	Hepatoblastoma	57492	ARID1B	ORPHA:1465
HP:0002884	Hepatoblastoma	196528	ARID2	ORPHA:1465
HP:0002884	Hepatoblastoma	6605	SMARCE1	ORPHA:1465
HP:0002884	Hepatoblastoma	6664	SOX11	ORPHA:1465
HP:0002884	Hepatoblastoma	26040	SETBP1	OMIM:269150
HP:0002884	Hepatoblastoma	26040	SETBP1	ORPHA:798
HP:0002884	Hepatoblastoma	388015	RTL1	ORPHA:96334
HP:0002884	Hepatoblastoma	8788	DLK1	ORPHA:96334
HP:0002884	Hepatoblastoma	55384	MEG3	ORPHA:96334
HP:0002884	Hepatoblastoma	199221	DZIP1L	ORPHA:731
HP:0002884	Hepatoblastoma	5314	PKHD1	ORPHA:731
HP:0002884	Hepatoblastoma	2542	SLC37A4	OMIM:232240
HP:0002885	Medulloblastoma	23405	DICER1	OMIM:601200
HP:0002885	Medulloblastoma	5727	PTCH1	ORPHA:77301
HP:0002885	Medulloblastoma	5727	PTCH1	OMIM:109400
HP:0002885	Medulloblastoma	171023	ASXL1	ORPHA:97297
HP:0002885	Medulloblastoma	23432	GPR161	OMIM:155255
HP:0002885	Medulloblastoma	51684	SUFU	OMIM:155255
HP:0002885	Medulloblastoma	8518	ELP1	OMIM:155255
HP:0002885	Medulloblastoma	8643	PTCH2	OMIM:155255
HP:0002885	Medulloblastoma	675	BRCA2	OMIM:155255
HP:0002885	Medulloblastoma	675	BRCA2	OMIM:613029
HP:0002885	Medulloblastoma	1499	CTNNB1	OMIM:155255
HP:0002885	Medulloblastoma	4683	NBN	OMIM:251260
HP:0002885	Medulloblastoma	324	APC	ORPHA:99818
HP:0002885	Medulloblastoma	324	APC	OMIM:175100
HP:0002885	Medulloblastoma	324	APC	ORPHA:247806
HP:0002885	Medulloblastoma	324	APC	ORPHA:79665
HP:0002885	Medulloblastoma	79728	PALB2	OMIM:610832
HP:0002885	Medulloblastoma	4292	MLH1	OMIM:276300
HP:0002885	Medulloblastoma	6598	SMARCB1	OMIM:609322
HP:0002885	Medulloblastoma	7157	TP53	ORPHA:524
HP:0002885	Medulloblastoma	1029	CDKN2A	ORPHA:524
HP:0002885	Medulloblastoma	4193	MDM2	ORPHA:524
HP:0002885	Medulloblastoma	11200	CHEK2	ORPHA:524
HP:0002885	Medulloblastoma	9817	KEAP1	ORPHA:276399
HP:0002886	Vagal paraganglioma	54949	SDHAF2	OMIM:601650
HP:0002886	Vagal paraganglioma	6392	SDHD	OMIM:168000
HP:0002888	Ependymoma	4221	MEN1	ORPHA:652
HP:0002888	Ependymoma	1027	CDKN1B	ORPHA:652
HP:0002888	Ependymoma	1026	CDKN1A	ORPHA:652
HP:0002888	Ependymoma	1030	CDKN2B	ORPHA:652
HP:0002888	Ependymoma	1031	CDKN2C	ORPHA:652
HP:0002888	Ependymoma	7157	TP53	OMIM:137800
HP:0002888	Ependymoma	7157	TP53	ORPHA:524
HP:0002888	Ependymoma	2064	ERBB2	OMIM:137800
HP:0002888	Ependymoma	3417	IDH1	OMIM:137800
HP:0002888	Ependymoma	7249	TSC2	OMIM:613254
HP:0002888	Ependymoma	3458	IFNG	OMIM:613254
HP:0002888	Ependymoma	65998	ZFTA	ORPHA:251636
HP:0002888	Ependymoma	5970	RELA	ORPHA:251636
HP:0002888	Ependymoma	7248	TSC1	OMIM:191100
HP:0002888	Ependymoma	324	APC	ORPHA:99818
HP:0002888	Ependymoma	4771	NF2	ORPHA:637
HP:0002888	Ependymoma	4771	NF2	OMIM:101000
HP:0002888	Ependymoma	26040	SETBP1	ORPHA:798
HP:0002888	Ependymoma	4292	MLH1	OMIM:276300
HP:0002888	Ependymoma	1029	CDKN2A	ORPHA:524
HP:0002888	Ependymoma	4193	MDM2	ORPHA:524
HP:0002888	Ependymoma	11200	CHEK2	ORPHA:524
HP:0002890	Thyroid carcinoma	201163	FLCN	ORPHA:122
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:162300
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:155240
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:171400
HP:0002890	Thyroid carcinoma	4221	MEN1	ORPHA:652
HP:0002890	Thyroid carcinoma	1027	CDKN1B	ORPHA:652
HP:0002890	Thyroid carcinoma	1026	CDKN1A	ORPHA:652
HP:0002890	Thyroid carcinoma	1030	CDKN2B	ORPHA:652
HP:0002890	Thyroid carcinoma	1031	CDKN2C	ORPHA:652
HP:0002890	Thyroid carcinoma	355	FAS	ORPHA:3261
HP:0002890	Thyroid carcinoma	356	FASLG	ORPHA:3261
HP:0002890	Thyroid carcinoma	5580	PRKCD	ORPHA:3261
HP:0002890	Thyroid carcinoma	843	CASP10	ORPHA:3261
HP:0002890	Thyroid carcinoma	10125	RASGRP1	ORPHA:3261
HP:0002890	Thyroid carcinoma	79577	CDC73	ORPHA:143
HP:0002890	Thyroid carcinoma	79577	CDC73	ORPHA:99880
HP:0002890	Thyroid carcinoma	26585	GREM1	ORPHA:157794
HP:0002890	Thyroid carcinoma	657	BMPR1A	ORPHA:157794
HP:0002890	Thyroid carcinoma	5728	PTEN	ORPHA:109
HP:0002890	Thyroid carcinoma	3766	KCNJ10	ORPHA:705
HP:0002890	Thyroid carcinoma	3766	KCNJ10	OMIM:274600
HP:0002890	Thyroid carcinoma	2299	FOXI1	ORPHA:705
HP:0002890	Thyroid carcinoma	2299	FOXI1	OMIM:274600
HP:0002890	Thyroid carcinoma	5172	SLC26A4	ORPHA:705
HP:0002890	Thyroid carcinoma	5172	SLC26A4	OMIM:274600
HP:0002890	Thyroid carcinoma	9817	KEAP1	ORPHA:276399
HP:0002890	Thyroid carcinoma	7486	WRN	ORPHA:902
HP:0002890	Thyroid carcinoma	7038	TG	OMIM:274700
HP:0002890	Thyroid carcinoma	7157	TP53	ORPHA:524
HP:0002890	Thyroid carcinoma	1029	CDKN2A	ORPHA:524
HP:0002890	Thyroid carcinoma	4193	MDM2	ORPHA:524
HP:0002890	Thyroid carcinoma	11200	CHEK2	ORPHA:524
HP:0002890	Thyroid carcinoma	23405	DICER1	OMIM:138800
HP:0002890	Thyroid carcinoma	7080	NKX2-1	OMIM:188550
HP:0002890	Thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0002890	Thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0002890	Thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0002890	Thyroid carcinoma	9562	MINPP1	ORPHA:319487
HP:0002890	Thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0002890	Thyroid carcinoma	2304	FOXE1	OMIM:616534
HP:0002890	Thyroid carcinoma	2304	FOXE1	ORPHA:319487
HP:0002890	Thyroid carcinoma	6597	SMARCA4	ORPHA:1465
HP:0002890	Thyroid carcinoma	6598	SMARCB1	ORPHA:1465
HP:0002890	Thyroid carcinoma	6659	SOX4	ORPHA:1465
HP:0002890	Thyroid carcinoma	8289	ARID1A	ORPHA:1465
HP:0002890	Thyroid carcinoma	5977	DPF2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6601	SMARCC2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6602	SMARCD1	ORPHA:1465
HP:0002890	Thyroid carcinoma	57492	ARID1B	ORPHA:1465
HP:0002890	Thyroid carcinoma	196528	ARID2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6605	SMARCE1	ORPHA:1465
HP:0002890	Thyroid carcinoma	6664	SOX11	ORPHA:1465
HP:0002890	Thyroid carcinoma	10483	SEC23B	OMIM:616858
HP:0002890	Thyroid carcinoma	182	JAG1	OMIM:118450
HP:0002890	Thyroid carcinoma	324	APC	ORPHA:99818
HP:0002890	Thyroid carcinoma	324	APC	OMIM:175100
HP:0002890	Thyroid carcinoma	324	APC	ORPHA:247806
HP:0002890	Thyroid carcinoma	324	APC	ORPHA:79665
HP:0002890	Thyroid carcinoma	3026	HABP2	ORPHA:319487
HP:0002890	Thyroid carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0002890	Thyroid carcinoma	50940	PDE11A	ORPHA:1359
HP:0002890	Thyroid carcinoma	6390	SDHB	ORPHA:201
HP:0002890	Thyroid carcinoma	6392	SDHD	ORPHA:201
HP:0002890	Thyroid carcinoma	6391	SDHC	ORPHA:201
HP:0002890	Thyroid carcinoma	207	AKT1	ORPHA:201
HP:0002890	Thyroid carcinoma	205717	USF3	ORPHA:201
HP:0002890	Thyroid carcinoma	5290	PIK3CA	ORPHA:201
HP:0002890	Thyroid carcinoma	100144748	KLLN	ORPHA:201
HP:0002891	Uterine leiomyosarcoma	6714	SRC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	201163	FLCN	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	10395	DLC1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	11200	CHEK2	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	8313	AXIN2	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5290	PIK3CA	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2033	EP300	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5782	PTPN12	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5320	PLA2G2A	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	6790	AURKA	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	1630	DCC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	27030	MLH3	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	581	BAX	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	25788	RAD54B	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	595	CCND1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	699	BUB1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	701	BUB1B	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2261	FGFR3	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	7097	TLR2	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	4893	NRAS	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	324	APC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	1499	CTNNB1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	7157	TP53	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	4163	MCC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	207	AKT1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5157	PDGFRL	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5795	PTPRJ	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	673	BRAF	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2271	FH	OMIM:150800
HP:0002891	Uterine leiomyosarcoma	2271	FH	ORPHA:523
HP:0002893	Pituitary adenoma	2778	GNAS	OMIM:174800
HP:0002893	Pituitary adenoma	2778	GNAS	ORPHA:189427
HP:0002893	Pituitary adenoma	5566	PRKACA	ORPHA:189439
HP:0002893	Pituitary adenoma	8622	PDE8B	ORPHA:189439
HP:0002893	Pituitary adenoma	3458	IFNG	ORPHA:805
HP:0002893	Pituitary adenoma	7248	TSC1	ORPHA:805
HP:0002893	Pituitary adenoma	7249	TSC2	ORPHA:805
HP:0002893	Pituitary adenoma	324	APC	ORPHA:99818
HP:0002893	Pituitary adenoma	4072	EPCAM	ORPHA:144
HP:0002893	Pituitary adenoma	4292	MLH1	ORPHA:144
HP:0002893	Pituitary adenoma	5395	PMS2	ORPHA:144
HP:0002893	Pituitary adenoma	27030	MLH3	ORPHA:144
HP:0002893	Pituitary adenoma	22909	FAN1	ORPHA:144
HP:0002893	Pituitary adenoma	7048	TGFBR2	ORPHA:144
HP:0002893	Pituitary adenoma	3845	KRAS	ORPHA:144
HP:0002893	Pituitary adenoma	5290	PIK3CA	ORPHA:144
HP:0002893	Pituitary adenoma	2956	MSH6	ORPHA:144
HP:0002893	Pituitary adenoma	5378	PMS1	ORPHA:144
HP:0002893	Pituitary adenoma	4436	MSH2	ORPHA:144
HP:0002893	Pituitary adenoma	64072	CDH23	OMIM:617540
HP:0002893	Pituitary adenoma	64218	SEMA4A	ORPHA:440437
HP:0002893	Pituitary adenoma	657	BMPR1A	ORPHA:440437
HP:0002893	Pituitary adenoma	6224	RPS20	ORPHA:440437
HP:0002893	Pituitary adenoma	79798	ARMC5	ORPHA:189427
HP:0002893	Pituitary adenoma	9101	USP8	OMIM:219090
HP:0002893	Pituitary adenoma	3418	IDH2	ORPHA:163634
HP:0002893	Pituitary adenoma	3417	IDH1	ORPHA:163634
HP:0002893	Pituitary adenoma	7528	YY1	ORPHA:97279
HP:0002893	Pituitary adenoma	84196	USP48	ORPHA:96253
HP:0002893	Pituitary adenoma	7157	TP53	ORPHA:96253
HP:0002893	Pituitary adenoma	2908	NR3C1	ORPHA:96253
HP:0002893	Pituitary adenoma	673	BRAF	ORPHA:96253
HP:0002893	Pituitary adenoma	546	ATRX	ORPHA:96253
HP:0002893	Pituitary adenoma	51726	DNAJB11	ORPHA:730
HP:0002893	Pituitary adenoma	23193	GANAB	ORPHA:730
HP:0002893	Pituitary adenoma	5310	PKD1	ORPHA:730
HP:0002893	Pituitary adenoma	5311	PKD2	ORPHA:730
HP:0002893	Pituitary adenoma	29880	ALG5	ORPHA:730
HP:0002893	Pituitary adenoma	9742	IFT140	ORPHA:730
HP:0002893	Pituitary adenoma	79796	ALG9	ORPHA:730
HP:0002893	Pituitary adenoma	80114	BICC1	ORPHA:730
HP:0002893	Pituitary adenoma	4221	MEN1	ORPHA:652
HP:0002893	Pituitary adenoma	4221	MEN1	ORPHA:99725
HP:0002893	Pituitary adenoma	1027	CDKN1B	ORPHA:652
HP:0002893	Pituitary adenoma	1027	CDKN1B	ORPHA:276152
HP:0002893	Pituitary adenoma	1026	CDKN1A	ORPHA:652
HP:0002893	Pituitary adenoma	1030	CDKN2B	ORPHA:652
HP:0002893	Pituitary adenoma	1031	CDKN2C	ORPHA:652
HP:0002893	Pituitary adenoma	9049	AIP	ORPHA:99725
HP:0002893	Pituitary adenoma	9049	AIP	ORPHA:963
HP:0002893	Pituitary adenoma	9049	AIP	OMIM:102200
HP:0002893	Pituitary adenoma	83550	GPR101	ORPHA:963
HP:0002893	Pituitary adenoma	5573	PRKAR1A	ORPHA:1359
HP:0002893	Pituitary adenoma	50940	PDE11A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	7428	VHL	ORPHA:892
HP:0002894	Neoplasm of the pancreas	7428	VHL	OMIM:193300
HP:0002894	Neoplasm of the pancreas	595	CCND1	ORPHA:892
HP:0002894	Neoplasm of the pancreas	595	CCND1	OMIM:193300
HP:0002894	Neoplasm of the pancreas	4221	MEN1	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1027	CDKN1B	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1026	CDKN1A	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1030	CDKN2B	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1030	CDKN2B	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1031	CDKN2C	ORPHA:652
HP:0002894	Neoplasm of the pancreas	4854	NOTCH3	ORPHA:2591
HP:0002894	Neoplasm of the pancreas	5159	PDGFRB	ORPHA:2591
HP:0002894	Neoplasm of the pancreas	6794	STK11	OMIM:260350
HP:0002894	Neoplasm of the pancreas	6794	STK11	OMIM:175200
HP:0002894	Neoplasm of the pancreas	7157	TP53	OMIM:260350
HP:0002894	Neoplasm of the pancreas	7157	TP53	OMIM:151623
HP:0002894	Neoplasm of the pancreas	7157	TP53	ORPHA:524
HP:0002894	Neoplasm of the pancreas	7157	TP53	ORPHA:145
HP:0002894	Neoplasm of the pancreas	3845	KRAS	OMIM:260350
HP:0002894	Neoplasm of the pancreas	3845	KRAS	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4089	SMAD4	OMIM:260350
HP:0002894	Neoplasm of the pancreas	324	APC	ORPHA:247806
HP:0002894	Neoplasm of the pancreas	324	APC	ORPHA:79665
HP:0002894	Neoplasm of the pancreas	1029	CDKN2A	ORPHA:524
HP:0002894	Neoplasm of the pancreas	1029	CDKN2A	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4193	MDM2	ORPHA:524
HP:0002894	Neoplasm of the pancreas	11200	CHEK2	ORPHA:524
HP:0002894	Neoplasm of the pancreas	11200	CHEK2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	672	BRCA1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5892	RAD51D	ORPHA:145
HP:0002894	Neoplasm of the pancreas	675	BRCA2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	675	BRCA2	OMIM:613347
HP:0002894	Neoplasm of the pancreas	5728	PTEN	ORPHA:145
HP:0002894	Neoplasm of the pancreas	10111	RAD50	ORPHA:145
HP:0002894	Neoplasm of the pancreas	580	BARD1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5888	RAD51	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4683	NBN	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5889	RAD51C	ORPHA:145
HP:0002894	Neoplasm of the pancreas	83990	BRIP1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4361	MRE11	ORPHA:145
HP:0002894	Neoplasm of the pancreas	79728	PALB2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4072	EPCAM	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4292	MLH1	ORPHA:144
HP:0002894	Neoplasm of the pancreas	5395	PMS2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	27030	MLH3	ORPHA:144
HP:0002894	Neoplasm of the pancreas	22909	FAN1	ORPHA:144
HP:0002894	Neoplasm of the pancreas	7048	TGFBR2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	5290	PIK3CA	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2956	MSH6	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2956	MSH6	OMIM:614350
HP:0002894	Neoplasm of the pancreas	5378	PMS1	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4436	MSH2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2642	GCGR	ORPHA:438274
HP:0002894	Neoplasm of the pancreas	2130	EWSR1	ORPHA:83469
HP:0002894	Neoplasm of the pancreas	7490	WT1	ORPHA:83469
HP:0002894	Neoplasm of the pancreas	80169	CTC1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	26277	TINF2	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55651	NHP2	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	79650	USB1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55135	WRAP53	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	51750	RTEL1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	4869	NPM1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7012	TERC	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55505	NOP10	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	5073	PARN	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7015	TERT	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7015	TERT	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1736	DKC1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7298	TYMS	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	64218	SEMA4A	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	657	BMPR1A	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	6224	RPS20	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	8314	BAP1	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4286	MITF	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1019	CDK4	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4255	MGMT	ORPHA:618
HP:0002894	Neoplasm of the pancreas	54386	TERF2IP	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4157	MC1R	ORPHA:618
HP:0002894	Neoplasm of the pancreas	65057	ACD	ORPHA:618
HP:0002894	Neoplasm of the pancreas	25913	POT1	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1188	CLCNKB	ORPHA:358
HP:0002894	Neoplasm of the pancreas	6559	SLC12A3	ORPHA:358
HP:0002894	Neoplasm of the pancreas	6690	SPINK1	OMIM:608189
HP:0002894	Neoplasm of the pancreas	2313	FLI1	ORPHA:370348
HP:0002894	Neoplasm of the pancreas	5573	PRKAR1A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	50940	PDE11A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	23022	PALLD	OMIM:606856
HP:0002894	Neoplasm of the pancreas	23022	PALLD	ORPHA:1333
HP:0002894	Neoplasm of the pancreas	79577	CDC73	ORPHA:143
HP:0002894	Neoplasm of the pancreas	79577	CDC73	ORPHA:99880
HP:0002894	Neoplasm of the pancreas	79577	CDC73	OMIM:145001
HP:0002894	Neoplasm of the pancreas	11330	CTRC	ORPHA:103918
HP:0002894	Neoplasm of the pancreas	54894	RNF43	ORPHA:157798
HP:0002894	Neoplasm of the pancreas	285282	RABL3	OMIM:618680
HP:0002894	Neoplasm of the pancreas	285282	RABL3	ORPHA:1333
HP:0002894	Neoplasm of the pancreas	4913	NTHL1	ORPHA:454840
HP:0002894	Neoplasm of the pancreas	4913	NTHL1	OMIM:616415
HP:0002894	Neoplasm of the pancreas	7373	COL14A1	ORPHA:79501
HP:0002894	Neoplasm of the pancreas	79719	AAGAB	ORPHA:79501
HP:0002894	Neoplasm of the pancreas	389692	MAFA	OMIM:147630
HP:0002894	Neoplasm of the pancreas	3767	KCNJ11	ORPHA:79644
HP:0002894	Neoplasm of the pancreas	23476	BRD4	ORPHA:443167
HP:0002894	Neoplasm of the pancreas	256646	NUTM1	ORPHA:443167
HP:0002895	Papillary thyroid carcinoma	23405	DICER1	OMIM:138800
HP:0002895	Papillary thyroid carcinoma	7080	NKX2-1	OMIM:188550
HP:0002895	Papillary thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	9562	MINPP1	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	2304	FOXE1	OMIM:616534
HP:0002895	Papillary thyroid carcinoma	2304	FOXE1	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	6597	SMARCA4	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6598	SMARCB1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6659	SOX4	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	8289	ARID1A	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	5977	DPF2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6601	SMARCC2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6602	SMARCD1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	57492	ARID1B	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	196528	ARID2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6605	SMARCE1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6664	SOX11	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	10483	SEC23B	OMIM:616858
HP:0002895	Papillary thyroid carcinoma	182	JAG1	OMIM:118450
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:99818
HP:0002895	Papillary thyroid carcinoma	324	APC	OMIM:175100
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:247806
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:79665
HP:0002895	Papillary thyroid carcinoma	3026	HABP2	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0002895	Papillary thyroid carcinoma	50940	PDE11A	ORPHA:1359
HP:0002896	Neoplasm of the liver	355	FAS	ORPHA:3261
HP:0002896	Neoplasm of the liver	356	FASLG	ORPHA:3261
HP:0002896	Neoplasm of the liver	5580	PRKCD	ORPHA:3261
HP:0002896	Neoplasm of the liver	843	CASP10	ORPHA:3261
HP:0002896	Neoplasm of the liver	10125	RASGRP1	ORPHA:3261
HP:0002896	Neoplasm of the liver	695	BTK	OMIM:300755
HP:0002896	Neoplasm of the liver	5265	SERPINA1	OMIM:613490
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231214
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231222
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231226
HP:0002896	Neoplasm of the liver	83932	SPRTN	OMIM:616200
HP:0002896	Neoplasm of the liver	9414	TJP2	OMIM:615878
HP:0002896	Neoplasm of the liver	4072	EPCAM	ORPHA:144
HP:0002896	Neoplasm of the liver	5395	PMS2	ORPHA:144
HP:0002896	Neoplasm of the liver	27030	MLH3	ORPHA:144
HP:0002896	Neoplasm of the liver	22909	FAN1	ORPHA:144
HP:0002896	Neoplasm of the liver	7048	TGFBR2	ORPHA:144
HP:0002896	Neoplasm of the liver	5290	PIK3CA	ORPHA:144
HP:0002896	Neoplasm of the liver	5290	PIK3CA	OMIM:114550
HP:0002896	Neoplasm of the liver	5378	PMS1	ORPHA:144
HP:0002896	Neoplasm of the liver	2153	F5	OMIM:600880
HP:0002896	Neoplasm of the liver	3717	JAK2	OMIM:600880
HP:0002896	Neoplasm of the liver	3594	IL12RB1	ORPHA:186
HP:0002896	Neoplasm of the liver	23534	TNPO3	ORPHA:186
HP:0002896	Neoplasm of the liver	3592	IL12A	ORPHA:186
HP:0002896	Neoplasm of the liver	6689	SPIB	ORPHA:186
HP:0002896	Neoplasm of the liver	5450	POU2AF1	ORPHA:186
HP:0002896	Neoplasm of the liver	9966	TNFSF15	ORPHA:186
HP:0002896	Neoplasm of the liver	79258	MMEL1	ORPHA:186
HP:0002896	Neoplasm of the liver	3663	IRF5	ORPHA:186
HP:0002896	Neoplasm of the liver	64218	SEMA4A	ORPHA:440437
HP:0002896	Neoplasm of the liver	657	BMPR1A	ORPHA:440437
HP:0002896	Neoplasm of the liver	6224	RPS20	ORPHA:440437
HP:0002896	Neoplasm of the liver	182	JAG1	OMIM:118450
HP:0002896	Neoplasm of the liver	6514	SLC2A2	ORPHA:2088
HP:0002896	Neoplasm of the liver	3145	HMBS	OMIM:176000
HP:0002896	Neoplasm of the liver	3145	HMBS	ORPHA:79276
HP:0002896	Neoplasm of the liver	540	ATP7B	OMIM:277900
HP:0002896	Neoplasm of the liver	5573	PRKAR1A	ORPHA:1359
HP:0002896	Neoplasm of the liver	50940	PDE11A	ORPHA:1359
HP:0002896	Neoplasm of the liver	10165	SLC25A13	OMIM:603471
HP:0002896	Neoplasm of the liver	10165	SLC25A13	ORPHA:247585
HP:0002896	Neoplasm of the liver	8647	ABCB11	OMIM:601847
HP:0002896	Neoplasm of the liver	2859	GPR35	ORPHA:171
HP:0002896	Neoplasm of the liver	10507	SEMA4D	ORPHA:171
HP:0002896	Neoplasm of the liver	4485	MST1	ORPHA:171
HP:0002896	Neoplasm of the liver	6925	TCF4	ORPHA:171
HP:0002896	Neoplasm of the liver	2538	G6PC1	OMIM:232200
HP:0002896	Neoplasm of the liver	4358	MPV17	OMIM:256810
HP:0002896	Neoplasm of the liver	654	BMP6	ORPHA:465508
HP:0002896	Neoplasm of the liver	3077	HFE	ORPHA:465508
HP:0002896	Neoplasm of the liver	3077	HFE	OMIM:176100
HP:0002896	Neoplasm of the liver	3077	HFE	OMIM:235200
HP:0002896	Neoplasm of the liver	2184	FAH	OMIM:276700
HP:0002896	Neoplasm of the liver	2184	FAH	ORPHA:882
HP:0002896	Neoplasm of the liver	5836	PYGL	ORPHA:369
HP:0002896	Neoplasm of the liver	191	AHCY	ORPHA:88618
HP:0002896	Neoplasm of the liver	4233	MET	OMIM:114550
HP:0002896	Neoplasm of the liver	8312	AXIN1	OMIM:114550
HP:0002896	Neoplasm of the liver	841	CASP8	OMIM:114550
HP:0002896	Neoplasm of the liver	5157	PDGFRL	OMIM:114550
HP:0002896	Neoplasm of the liver	3482	IGF2R	OMIM:114550
HP:0002896	Neoplasm of the liver	1499	CTNNB1	OMIM:114550
HP:0002896	Neoplasm of the liver	55340	GIMAP5	OMIM:619463
HP:0002896	Neoplasm of the liver	7289	TULP3	OMIM:619902
HP:0002896	Neoplasm of the liver	1371	CPOX	ORPHA:79273
HP:0002896	Neoplasm of the liver	7389	UROD	OMIM:176100
HP:0002896	Neoplasm of the liver	5498	PPOX	ORPHA:79473
HP:0002896	Neoplasm of the liver	650	BMP2	OMIM:235200
HP:0002896	Neoplasm of the liver	2239	GPC4	ORPHA:373
HP:0002896	Neoplasm of the liver	2239	GPC4	OMIM:312870
HP:0002896	Neoplasm of the liver	2719	GPC3	ORPHA:373
HP:0002896	Neoplasm of the liver	2719	GPC3	OMIM:312870
HP:0002896	Neoplasm of the liver	324	APC	ORPHA:261584
HP:0002896	Neoplasm of the liver	324	APC	ORPHA:99818
HP:0002896	Neoplasm of the liver	324	APC	OMIM:175100
HP:0002896	Neoplasm of the liver	324	APC	ORPHA:79665
HP:0002896	Neoplasm of the liver	1028	CDKN1C	OMIM:130650
HP:0002896	Neoplasm of the liver	10984	KCNQ1OT1	OMIM:130650
HP:0002896	Neoplasm of the liver	3481	IGF2	OMIM:130650
HP:0002896	Neoplasm of the liver	3784	KCNQ1	OMIM:130650
HP:0002896	Neoplasm of the liver	9652	SKIC3	ORPHA:84064
HP:0002896	Neoplasm of the liver	6499	SKIC2	ORPHA:84064
HP:0002896	Neoplasm of the liver	6597	SMARCA4	ORPHA:1465
HP:0002896	Neoplasm of the liver	6598	SMARCB1	ORPHA:1465
HP:0002896	Neoplasm of the liver	6659	SOX4	ORPHA:1465
HP:0002896	Neoplasm of the liver	8289	ARID1A	ORPHA:1465
HP:0002896	Neoplasm of the liver	5977	DPF2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6601	SMARCC2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6602	SMARCD1	ORPHA:1465
HP:0002896	Neoplasm of the liver	57492	ARID1B	ORPHA:1465
HP:0002896	Neoplasm of the liver	196528	ARID2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6605	SMARCE1	ORPHA:1465
HP:0002896	Neoplasm of the liver	6664	SOX11	ORPHA:1465
HP:0002896	Neoplasm of the liver	26040	SETBP1	OMIM:269150
HP:0002896	Neoplasm of the liver	26040	SETBP1	ORPHA:798
HP:0002896	Neoplasm of the liver	388015	RTL1	ORPHA:96334
HP:0002896	Neoplasm of the liver	8788	DLK1	ORPHA:96334
HP:0002896	Neoplasm of the liver	55384	MEG3	ORPHA:96334
HP:0002896	Neoplasm of the liver	199221	DZIP1L	ORPHA:731
HP:0002896	Neoplasm of the liver	5314	PKHD1	ORPHA:731
HP:0002896	Neoplasm of the liver	2542	SLC37A4	OMIM:232240
HP:0002896	Neoplasm of the liver	4292	MLH1	ORPHA:587
HP:0002896	Neoplasm of the liver	2956	MSH6	ORPHA:587
HP:0002896	Neoplasm of the liver	4436	MSH2	ORPHA:587
HP:0002896	Neoplasm of the liver	6609	SMPD1	ORPHA:77293
HP:0002896	Neoplasm of the liver	5244	ABCB4	ORPHA:69663
HP:0002896	Neoplasm of the liver	65998	ZFTA	ORPHA:251636
HP:0002896	Neoplasm of the liver	5970	RELA	ORPHA:251636
HP:0002896	Neoplasm of the liver	4665	NAB2	ORPHA:2126
HP:0002896	Neoplasm of the liver	6778	STAT6	ORPHA:2126
HP:0002896	Neoplasm of the liver	56623	INPP5E	ORPHA:1454
HP:0002896	Neoplasm of the liver	91147	TMEM67	ORPHA:1454
HP:0002896	Neoplasm of the liver	23322	RPGRIP1L	ORPHA:1454
HP:0002896	Neoplasm of the liver	57545	CC2D2A	ORPHA:1454
HP:0002896	Neoplasm of the liver	672	BRCA1	ORPHA:1333
HP:0002896	Neoplasm of the liver	285282	RABL3	ORPHA:1333
HP:0002896	Neoplasm of the liver	7157	TP53	ORPHA:1333
HP:0002896	Neoplasm of the liver	675	BRCA2	ORPHA:1333
HP:0002896	Neoplasm of the liver	675	BRCA2	ORPHA:654
HP:0002896	Neoplasm of the liver	3845	KRAS	ORPHA:1333
HP:0002896	Neoplasm of the liver	1029	CDKN2A	ORPHA:1333
HP:0002896	Neoplasm of the liver	79728	PALB2	ORPHA:1333
HP:0002896	Neoplasm of the liver	4089	SMAD4	ORPHA:1333
HP:0002896	Neoplasm of the liver	23022	PALLD	ORPHA:1333
HP:0002896	Neoplasm of the liver	5978	REST	ORPHA:654
HP:0002896	Neoplasm of the liver	129563	DIS3L2	ORPHA:654
HP:0002896	Neoplasm of the liver	9319	TRIP13	ORPHA:654
HP:0002896	Neoplasm of the liver	7490	WT1	ORPHA:654
HP:0002896	Neoplasm of the liver	10155	TRIM28	ORPHA:654
HP:0002896	Neoplasm of the liver	11281	POU6F2	ORPHA:654
HP:0002896	Neoplasm of the liver	283120	H19	ORPHA:654
HP:0002896	Neoplasm of the liver	3767	KCNJ11	ORPHA:552
HP:0002896	Neoplasm of the liver	8462	KLF11	ORPHA:552
HP:0002896	Neoplasm of the liver	2645	GCK	ORPHA:552
HP:0002896	Neoplasm of the liver	26060	APPL1	ORPHA:552
HP:0002896	Neoplasm of the liver	640	BLK	ORPHA:552
HP:0002896	Neoplasm of the liver	1056	CEL	ORPHA:552
HP:0002896	Neoplasm of the liver	4760	NEUROD1	ORPHA:552
HP:0002896	Neoplasm of the liver	3651	PDX1	ORPHA:552
HP:0002896	Neoplasm of the liver	6833	ABCC8	ORPHA:552
HP:0002896	Neoplasm of the liver	5078	PAX4	ORPHA:552
HP:0002896	Neoplasm of the liver	3172	HNF4A	ORPHA:552
HP:0002896	Neoplasm of the liver	6927	HNF1A	ORPHA:552
HP:0002896	Neoplasm of the liver	6927	HNF1A	OMIM:142330
HP:0002896	Neoplasm of the liver	3630	INS	ORPHA:552
HP:0002896	Neoplasm of the liver	2778	GNAS	ORPHA:562
HP:0002896	Neoplasm of the liver	5257	PHKB	ORPHA:79240
HP:0002896	Neoplasm of the liver	5256	PHKA2	ORPHA:264580
HP:0002896	Neoplasm of the liver	5261	PHKG2	ORPHA:264580
HP:0002896	Neoplasm of the liver	1387	CREBBP	OMIM:180849
HP:0002896	Neoplasm of the liver	2033	EP300	OMIM:180849
HP:0002896	Neoplasm of the liver	595	CCND1	OMIM:193300
HP:0002896	Neoplasm of the liver	7428	VHL	OMIM:193300
HP:0002897	Parathyroid adenoma	201163	FLCN	ORPHA:122
HP:0002897	Parathyroid adenoma	4763	NF1	OMIM:162200
HP:0002897	Parathyroid adenoma	79577	CDC73	ORPHA:99880
HP:0002897	Parathyroid adenoma	79577	CDC73	OMIM:145001
HP:0002897	Parathyroid adenoma	79577	CDC73	ORPHA:99879
HP:0002897	Parathyroid adenoma	5979	RET	OMIM:171400
HP:0002897	Parathyroid adenoma	4221	MEN1	OMIM:131100
HP:0002897	Parathyroid adenoma	4221	MEN1	ORPHA:99879
HP:0002897	Parathyroid adenoma	846	CASR	OMIM:145980
HP:0002897	Parathyroid adenoma	3458	IFNG	ORPHA:805
HP:0002897	Parathyroid adenoma	7248	TSC1	ORPHA:805
HP:0002897	Parathyroid adenoma	7249	TSC2	ORPHA:805
HP:0002897	Parathyroid adenoma	3418	IDH2	ORPHA:163634
HP:0002897	Parathyroid adenoma	3417	IDH1	ORPHA:163634
HP:0002897	Parathyroid adenoma	9247	GCM2	ORPHA:99879
HP:0002897	Parathyroid adenoma	1027	CDKN1B	OMIM:610755
HP:0002897	Parathyroid adenoma	1027	CDKN1B	ORPHA:276152
HP:0002897	Parathyroid adenoma	1188	CLCNKB	ORPHA:358
HP:0002897	Parathyroid adenoma	6559	SLC12A3	ORPHA:358
HP:0002898	Embryonal neoplasm	5290	PIK3CA	OMIM:612918
HP:0002898	Embryonal neoplasm	5290	PIK3CA	ORPHA:276280
HP:0002898	Embryonal neoplasm	5290	PIK3CA	OMIM:602501
HP:0002898	Embryonal neoplasm	11281	POU6F2	OMIM:601583
HP:0002898	Embryonal neoplasm	11281	POU6F2	ORPHA:654
HP:0002898	Embryonal neoplasm	23405	DICER1	OMIM:180295
HP:0002898	Embryonal neoplasm	23405	DICER1	OMIM:618272
HP:0002898	Embryonal neoplasm	716	C1S	OMIM:617174
HP:0002898	Embryonal neoplasm	9158	FIBP	ORPHA:500095
HP:0002898	Embryonal neoplasm	9158	FIBP	OMIM:617107
HP:0002898	Embryonal neoplasm	9759	HDAC4	ORPHA:1001
HP:0002898	Embryonal neoplasm	5978	REST	OMIM:616806
HP:0002898	Embryonal neoplasm	5978	REST	ORPHA:654
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:347
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:220
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:654
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:256370
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194080
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:251510
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194072
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194070
HP:0002898	Embryonal neoplasm	2132	EXT2	ORPHA:52022
HP:0002898	Embryonal neoplasm	60529	ALX4	ORPHA:52022
HP:0002898	Embryonal neoplasm	51317	PHF21A	ORPHA:52022
HP:0002898	Embryonal neoplasm	79577	CDC73	ORPHA:143
HP:0002898	Embryonal neoplasm	79577	CDC73	OMIM:145001
HP:0002898	Embryonal neoplasm	79577	CDC73	ORPHA:99880
HP:0002898	Embryonal neoplasm	675	BRCA2	OMIM:613029
HP:0002898	Embryonal neoplasm	675	BRCA2	ORPHA:654
HP:0002898	Embryonal neoplasm	675	BRCA2	OMIM:194070
HP:0002898	Embryonal neoplasm	79728	PALB2	OMIM:610832
HP:0002898	Embryonal neoplasm	9319	TRIP13	ORPHA:654
HP:0002898	Embryonal neoplasm	9319	TRIP13	OMIM:617598
HP:0002898	Embryonal neoplasm	9319	TRIP13	ORPHA:1052
HP:0002898	Embryonal neoplasm	10155	TRIM28	ORPHA:654
HP:0002898	Embryonal neoplasm	283120	H19	ORPHA:654
HP:0002898	Embryonal neoplasm	283120	H19	ORPHA:2128
HP:0002898	Embryonal neoplasm	283120	H19	OMIM:194070
HP:0002898	Embryonal neoplasm	3265	HRAS	ORPHA:2874
HP:0002898	Embryonal neoplasm	701	BUB1B	OMIM:257300
HP:0002898	Embryonal neoplasm	701	BUB1B	ORPHA:1052
HP:0002898	Embryonal neoplasm	5727	PTCH1	ORPHA:77301
HP:0002898	Embryonal neoplasm	641	BLM	ORPHA:125
HP:0002898	Embryonal neoplasm	171023	ASXL1	ORPHA:97297
HP:0002898	Embryonal neoplasm	9184	BUB3	ORPHA:1052
HP:0002898	Embryonal neoplasm	699	BUB1	ORPHA:1052
HP:0002898	Embryonal neoplasm	9702	CEP57	ORPHA:1052
HP:0002898	Embryonal neoplasm	4591	TRIM37	OMIM:253250
HP:0002898	Embryonal neoplasm	6662	SOX9	ORPHA:251510
HP:0002898	Embryonal neoplasm	6845	VAMP7	ORPHA:251510
HP:0002898	Embryonal neoplasm	51741	WWOX	ORPHA:251510
HP:0002898	Embryonal neoplasm	4214	MAP3K1	ORPHA:251510
HP:0002898	Embryonal neoplasm	2516	NR5A1	ORPHA:251510
HP:0002898	Embryonal neoplasm	58524	DMRT3	ORPHA:251510
HP:0002898	Embryonal neoplasm	57647	DHX37	ORPHA:251510
HP:0002898	Embryonal neoplasm	6736	SRY	ORPHA:251510
HP:0002898	Embryonal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0002898	Embryonal neoplasm	190	NR0B1	ORPHA:251510
HP:0002898	Embryonal neoplasm	2626	GATA4	ORPHA:251510
HP:0002898	Embryonal neoplasm	161742	SPRED1	ORPHA:137605
HP:0002898	Embryonal neoplasm	5080	PAX6	OMIM:194072
HP:0002898	Embryonal neoplasm	2239	GPC4	ORPHA:373
HP:0002898	Embryonal neoplasm	2239	GPC4	OMIM:312870
HP:0002898	Embryonal neoplasm	2719	GPC3	ORPHA:373
HP:0002898	Embryonal neoplasm	2719	GPC3	OMIM:312870
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:261584
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:99818
HP:0002898	Embryonal neoplasm	324	APC	OMIM:175100
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:79665
HP:0002898	Embryonal neoplasm	1028	CDKN1C	OMIM:130650
HP:0002898	Embryonal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0002898	Embryonal neoplasm	3481	IGF2	OMIM:130650
HP:0002898	Embryonal neoplasm	3784	KCNQ1	OMIM:130650
HP:0002898	Embryonal neoplasm	9652	SKIC3	ORPHA:84064
HP:0002898	Embryonal neoplasm	6499	SKIC2	ORPHA:84064
HP:0002898	Embryonal neoplasm	6597	SMARCA4	ORPHA:1465
HP:0002898	Embryonal neoplasm	6598	SMARCB1	ORPHA:1465
HP:0002898	Embryonal neoplasm	6659	SOX4	ORPHA:1465
HP:0002898	Embryonal neoplasm	8289	ARID1A	ORPHA:1465
HP:0002898	Embryonal neoplasm	5977	DPF2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6601	SMARCC2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6602	SMARCD1	ORPHA:1465
HP:0002898	Embryonal neoplasm	57492	ARID1B	ORPHA:1465
HP:0002898	Embryonal neoplasm	196528	ARID2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6605	SMARCE1	ORPHA:1465
HP:0002898	Embryonal neoplasm	6664	SOX11	ORPHA:1465
HP:0002898	Embryonal neoplasm	26040	SETBP1	OMIM:269150
HP:0002898	Embryonal neoplasm	26040	SETBP1	ORPHA:798
HP:0002898	Embryonal neoplasm	388015	RTL1	ORPHA:96334
HP:0002898	Embryonal neoplasm	8788	DLK1	ORPHA:96334
HP:0002898	Embryonal neoplasm	55384	MEG3	ORPHA:96334
HP:0002898	Embryonal neoplasm	199221	DZIP1L	ORPHA:731
HP:0002898	Embryonal neoplasm	5314	PKHD1	ORPHA:731
HP:0002898	Embryonal neoplasm	2542	SLC37A4	OMIM:232240
HP:0002898	Embryonal neoplasm	6794	STK11	OMIM:273300
HP:0002898	Embryonal neoplasm	8915	BCL10	OMIM:273300
HP:0002898	Embryonal neoplasm	3815	KIT	OMIM:273300
HP:0002898	Embryonal neoplasm	2261	FGFR3	OMIM:273300
HP:0002898	Embryonal neoplasm	5002	SLC22A18	OMIM:268210
HP:0002898	Embryonal neoplasm	129563	DIS3L2	OMIM:267000
HP:0002898	Embryonal neoplasm	168667	BMPER	OMIM:608022
HP:0002898	Embryonal neoplasm	5925	RB1	ORPHA:1587
HP:0002898	Embryonal neoplasm	5925	RB1	OMIM:180200
HP:0002898	Embryonal neoplasm	5925	RB1	OMIM:259500
HP:0002898	Embryonal neoplasm	7157	TP53	OMIM:259500
HP:0002898	Embryonal neoplasm	11200	CHEK2	OMIM:259500
HP:0002898	Embryonal neoplasm	4437	MSH3	ORPHA:480536
HP:0002898	Embryonal neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0002898	Embryonal neoplasm	50940	PDE11A	ORPHA:1359
HP:0002898	Embryonal neoplasm	3110	MNX1	ORPHA:1552
HP:0002898	Embryonal neoplasm	64324	NSD1	ORPHA:821
HP:0002898	Embryonal neoplasm	29072	SETD2	ORPHA:821
HP:0002898	Embryonal neoplasm	10297	APC2	ORPHA:821
HP:0025700	Anhydramnios	26281	FGF20	OMIM:615721
HP:0025700	Anhydramnios	2674	GFRA1	OMIM:619887
HP:0025700	Anhydramnios	79867	TCTN2	OMIM:613885
HP:0025700	Anhydramnios	8516	ITGA8	OMIM:191830
HP:0025705	Abnormal fetal nasal bone visualization	2623	GATA1	OMIM:190685
HP:0025705	Abnormal fetal nasal bone visualization	168667	BMPER	OMIM:608022
HP:0025705	Abnormal fetal nasal bone visualization	1301	COL11A1	OMIM:154780
HP:0025706	Absent fetal nasal bone	168667	BMPER	OMIM:608022
HP:0025707	Hypoplastic nasal bone	1301	COL11A1	OMIM:154780
HP:0025708	Early young adult onset	64170	CARD9	OMIM:212050
HP:0025708	Early young adult onset	201294	UNC13D	OMIM:608898
HP:0025708	Early young adult onset	1053	CEBPE	OMIM:260570
HP:0025708	Early young adult onset	402381	SOHLH1	OMIM:617690
HP:0025708	Early young adult onset	5265	SERPINA1	OMIM:613490
HP:0025708	Early young adult onset	8991	SELENBP1	OMIM:618148
HP:0025708	Early young adult onset	2100	ESR2	OMIM:618187
HP:0025708	Early young adult onset	3741	KCNA5	OMIM:612240
HP:0025708	Early young adult onset	3753	KCNE1	OMIM:613695
HP:0025708	Early young adult onset	4897	NRCAM	OMIM:619833
HP:0025708	Early young adult onset	375748	ERCC6L2	OMIM:615715
HP:0025708	Early young adult onset	6606	SMN1	OMIM:253400
HP:0025708	Early young adult onset	6607	SMN2	OMIM:253400
HP:0025708	Early young adult onset	51284	TLR7	OMIM:301080
HP:0025708	Early young adult onset	4000	LMNA	OMIM:181350
HP:0025708	Early young adult onset	1280	COL2A1	OMIM:608805
HP:0025708	Early young adult onset	10021	HCN4	OMIM:163800
HP:0025708	Early young adult onset	5610	EIF2AK2	OMIM:619687
HP:0025708	Early young adult onset	5375	PMP2	OMIM:618279
HP:0025708	Early young adult onset	3972	LHB	OMIM:228300
HP:0025708	Early young adult onset	7273	TTN	OMIM:608807
HP:0025708	Early young adult onset	3630	INS	OMIM:125852
HP:0025708	Early young adult onset	92840	REEP6	OMIM:617304
HP:0025708	Early young adult onset	65055	REEP1	OMIM:614751
HP:0025708	Early young adult onset	54805	CNNM2	OMIM:616418
HP:0025708	Early young adult onset	11149	BVES	OMIM:616812
HP:0025708	Early young adult onset	54476	RNF216	OMIM:212840
HP:0025708	Early young adult onset	8526	DGKE	OMIM:615008
HP:0025708	Early young adult onset	2992	GYG1	OMIM:613507
HP:0025708	Early young adult onset	112476	PRRT2	OMIM:602066
HP:0025708	Early young adult onset	58528	RRAGD	OMIM:620152
HP:0025708	Early young adult onset	8671	SLC4A4	OMIM:604278
HP:0025708	Early young adult onset	26092	TOR1AIP1	OMIM:617072
HP:0025708	Early young adult onset	6772	STAT1	OMIM:614162
HP:0025708	Early young adult onset	8575	PRKRA	OMIM:612067
HP:0025708	Early young adult onset	138050	HGSNAT	OMIM:616544
HP:0025708	Early young adult onset	23533	PIK3R5	OMIM:615217
HP:0025708	Early young adult onset	3759	KCNJ2	OMIM:170390
HP:0025708	Early young adult onset	51311	TLR8	OMIM:301078
HP:0025708	Early young adult onset	5654	HTRA1	OMIM:600142
HP:0025708	Early young adult onset	5611	DNAJC3	OMIM:616192
HP:0025708	Early young adult onset	54361	WNT4	OMIM:158330
HP:0025708	Early young adult onset	5428	POLG	OMIM:607459
HP:0025708	Early young adult onset	56652	TWNK	OMIM:607459
HP:0025708	Early young adult onset	567	B2M	OMIM:241600
HP:0025708	Early young adult onset	3980	LIG3	OMIM:619780
HP:0025708	Early young adult onset	79734	KCTD17	OMIM:616398
HP:0025708	Early young adult onset	3762	KCNJ5	OMIM:613485
HP:0025708	Early young adult onset	2583	B4GALNT1	OMIM:609195
HP:0025708	Early young adult onset	144245	ALG10B	OMIM:613688
HP:0025708	Early young adult onset	3757	KCNH2	OMIM:613688
HP:0025708	Early young adult onset	1200	TPP1	OMIM:609270
HP:0025708	Early young adult onset	10371	SEMA3A	OMIM:614897
HP:0025708	Early young adult onset	950	SCARB2	OMIM:254900
HP:0025708	Early young adult onset	6640	SNTA1	OMIM:612955
HP:0025708	Early young adult onset	1180	CLCN1	OMIM:160800
HP:0025708	Early young adult onset	338328	GPIHBP1	OMIM:615947
HP:0025708	Early young adult onset	22953	P2RX2	OMIM:608224
HP:0025708	Early young adult onset	1832	DSP	OMIM:607450
HP:0025709	Intermediate young adult onset	50964	SOST	OMIM:269500
HP:0025709	Intermediate young adult onset	1134	CHRNA1	OMIM:601462
HP:0025709	Intermediate young adult onset	2022	ENG	OMIM:187300
HP:0025709	Intermediate young adult onset	2624	GATA2	OMIM:614172
HP:0025709	Intermediate young adult onset	116085	SLC22A12	OMIM:220150
HP:0025709	Intermediate young adult onset	10159	ATP6AP2	OMIM:300911
HP:0025709	Intermediate young adult onset	317761	C14orf39	OMIM:619203
HP:0025709	Intermediate young adult onset	57468	SLC12A5	OMIM:616685
HP:0025709	Intermediate young adult onset	8867	SYNJ1	OMIM:615530
HP:0025709	Intermediate young adult onset	3717	JAK2	OMIM:263300
HP:0025709	Intermediate young adult onset	9896	FIG4	OMIM:612691
HP:0025709	Intermediate young adult onset	246243	RNASEH1	OMIM:616479
HP:0025709	Intermediate young adult onset	3767	KCNJ11	OMIM:610582
HP:0025709	Intermediate young adult onset	3767	KCNJ11	OMIM:616329
HP:0025709	Intermediate young adult onset	7157	TP53	OMIM:260500
HP:0025709	Intermediate young adult onset	2896	GRN	OMIM:614706
HP:0025709	Intermediate young adult onset	540	ATP7B	OMIM:277900
HP:0025709	Intermediate young adult onset	8565	YARS1	OMIM:608323
HP:0025709	Intermediate young adult onset	785	CACNB4	OMIM:607682
HP:0025710	Late young adult onset	9563	H6PD	OMIM:604931
HP:0025710	Late young adult onset	4137	MAPT	OMIM:600274
HP:0025710	Late young adult onset	5663	PSEN1	OMIM:600274
HP:0025710	Late young adult onset	5663	PSEN1	OMIM:613694
HP:0025710	Late young adult onset	1436	CSF1R	OMIM:221820
HP:0025710	Late young adult onset	4287	ATXN3	OMIM:109150
HP:0025710	Late young adult onset	116085	SLC22A12	OMIM:220150
HP:0025710	Late young adult onset	3930	LBR	OMIM:613471
HP:0025710	Late young adult onset	1181	CLCN2	OMIM:615651
HP:0025710	Late young adult onset	8867	SYNJ1	OMIM:615530
HP:0025710	Late young adult onset	3741	KCNA5	OMIM:612240
HP:0025710	Late young adult onset	7515	XRCC1	OMIM:617633
HP:0025710	Late young adult onset	5664	PSEN2	OMIM:613697
HP:0025710	Late young adult onset	4311	MME	OMIM:617017
HP:0025710	Late young adult onset	1593	CYP27A1	OMIM:213700
HP:0025710	Late young adult onset	54834	GDAP2	OMIM:618369
HP:0025710	Late young adult onset	311	ANXA11	OMIM:619733
HP:0025710	Late young adult onset	3767	KCNJ11	OMIM:616329
HP:0025710	Late young adult onset	4625	MYH7	OMIM:255160
HP:0025710	Late young adult onset	7415	VCP	OMIM:167320
HP:0025710	Late young adult onset	84839	RAX2	OMIM:620102
HP:0025710	Late young adult onset	3315	HSPB1	OMIM:606595
HP:0025710	Late young adult onset	4668	NAGA	OMIM:609242
HP:0025710	Late young adult onset	785	CACNB4	OMIM:607682
HP:0025710	Late young adult onset	10059	DNM1L	OMIM:610708
HP:0025710	Late young adult onset	859	CAV3	OMIM:611818
HP:0025710	Late young adult onset	55863	TMEM126B	OMIM:618250
HP:0025710	Late young adult onset	5621	PRNP	OMIM:606688
HP:0025710	Late young adult onset	5428	POLG	OMIM:157640
HP:0025710	Late young adult onset	256471	MFSD8	OMIM:616170
HP:0025710	Late young adult onset	9217	VAPB	OMIM:182980
HP:0025710	Late young adult onset	55800	SCN3B	OMIM:613120
HP:0025710	Late young adult onset	4072	EPCAM	OMIM:613244
HP:0025710	Late young adult onset	3075	CFH	OMIM:126700
HP:0025710	Late young adult onset	2670	GFAP	OMIM:203450
HP:0025710	Late young adult onset	11232	POLG2	OMIM:610131
HP:0025710	Late young adult onset	400916	CHCHD10	OMIM:615048
HP:0025710	Late young adult onset	1135	CHRNA2	OMIM:610353
HP:0025710	Late young adult onset	5961	PRPH2	OMIM:608161
HP:0025710	Late young adult onset	219285	SAMD9L	OMIM:619806
HP:0025710	Late young adult onset	540	ATP7B	OMIM:277900
HP:0025711	Convergence-retraction nystagmus	120	ADD3	OMIM:617008
HP:0025712	Spontaneous chorioamniotic separation	10269	ZMPSTE24	OMIM:275210
HP:0025717	Skeletal muscle autophagosome accumulation	9453	GGPS1	OMIM:619518
HP:0025717	Skeletal muscle autophagosome accumulation	1410	CRYAB	OMIM:608810
HP:0025717	Skeletal muscle autophagosome accumulation	203547	VMA21	OMIM:310440
HP:0025717	Skeletal muscle autophagosome accumulation	3920	LAMP2	OMIM:300257
HP:0025722	Cerebral infarct	94	ACVRL1	OMIM:600376
HP:0025722	Cerebral infarct	4854	NOTCH3	ORPHA:136
HP:0025722	Cerebral infarct	51816	ADA2	OMIM:182410
HP:0025722	Cerebral infarct	2022	ENG	OMIM:187300
HP:0025722	Cerebral infarct	81031	SLC2A10	OMIM:208050
HP:0025722	Cerebral infarct	6651	SON	ORPHA:500150
HP:0025722	Cerebral infarct	2982	GUCY1A1	OMIM:615750
HP:0025722	Cerebral infarct	3717	JAK2	OMIM:614521
HP:0025722	Cerebral infarct	50485	SMARCAL1	ORPHA:1830
HP:0025722	Cerebral infarct	6331	SCN5A	ORPHA:1344
HP:0025722	Cerebral infarct	4878	NPPA	ORPHA:1344
HP:0025722	Cerebral infarct	2783	GNB2	OMIM:619503
HP:0025722	Cerebral infarct	79184	BRCC3	ORPHA:280679
HP:0025722	Cerebral infarct	1282	COL4A1	OMIM:175780
HP:0025722	Cerebral infarct	4629	MYH11	ORPHA:91387
HP:0025722	Cerebral infarct	7046	TGFBR1	ORPHA:91387
HP:0025722	Cerebral infarct	7048	TGFBR2	ORPHA:91387
HP:0025722	Cerebral infarct	4015	LOX	ORPHA:91387
HP:0025722	Cerebral infarct	4087	SMAD2	ORPHA:91387
HP:0025722	Cerebral infarct	7043	TGFB3	ORPHA:91387
HP:0025722	Cerebral infarct	4088	SMAD3	ORPHA:91387
HP:0025722	Cerebral infarct	7042	TGFB2	ORPHA:91387
HP:0025722	Cerebral infarct	4089	SMAD4	ORPHA:91387
HP:0025722	Cerebral infarct	2200	FBN1	ORPHA:91387
HP:0025722	Cerebral infarct	59	ACTA2	ORPHA:91387
HP:0025722	Cerebral infarct	5592	PRKG1	ORPHA:91387
HP:0025722	Cerebral infarct	2301	FOXE3	ORPHA:91387
HP:0025722	Cerebral infarct	4144	MAT2A	ORPHA:91387
HP:0025722	Cerebral infarct	23493	HEY2	ORPHA:91387
HP:0025722	Cerebral infarct	8076	MFAP5	ORPHA:91387
HP:0025722	Cerebral infarct	4638	MYLK	ORPHA:91387
HP:0025722	Cerebral infarct	2006	ELN	ORPHA:91387
HP:0025722	Cerebral infarct	5654	HTRA1	OMIM:600142
HP:0025722	Cerebral infarct	5654	HTRA1	OMIM:616779
HP:0025722	Cerebral infarct	79709	COLGALT1	OMIM:618360
HP:0025722	Cerebral infarct	4668	NAGA	OMIM:609242
HP:0025722	Cerebral infarct	5286	PIK3C2A	OMIM:618440
HP:0025723	Abnormal fetal skin morphology	7051	TGM1	OMIM:242300
HP:0025723	Abnormal fetal skin morphology	3141	HLCS	ORPHA:79242
HP:0025723	Abnormal fetal skin morphology	6023	RMRP	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	55636	CHD7	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	3981	LIG4	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	5896	RAG1	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	5897	RAG2	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	64421	DCLRE1C	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	100	ADA	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	3575	IL7R	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	3561	IL2RG	ORPHA:39041
HP:0025723	Abnormal fetal skin morphology	2629	GBA1	OMIM:608013
HP:0025723	Abnormal fetal skin morphology	10999	SLC27A4	ORPHA:88621
HP:0025723	Abnormal fetal skin morphology	56945	MRPS22	OMIM:611719
HP:0025723	Abnormal fetal skin morphology	117581	TWIST2	OMIM:200110
HP:0025724	Caseous vernix-like desquamation	10999	SLC27A4	OMIM:608649
HP:0005301	Persistent left superior vena cava	128	ADH5	OMIM:619151
HP:0005301	Persistent left superior vena cava	2294	FOXF1	OMIM:265380
HP:0005301	Persistent left superior vena cava	7490	WT1	OMIM:608978
HP:0005301	Persistent left superior vena cava	137814	NKX2-6	ORPHA:3384
HP:0005301	Persistent left superior vena cava	23129	PLXND1	ORPHA:3384
HP:0005301	Persistent left superior vena cava	1387	CREBBP	OMIM:180849
HP:0005301	Persistent left superior vena cava	2033	EP300	OMIM:180849
HP:0005301	Persistent left superior vena cava	54916	TMEM260	OMIM:617478
HP:0005301	Persistent left superior vena cava	25981	DNAH1	ORPHA:244
HP:0005301	Persistent left superior vena cava	115948	ODAD3	ORPHA:244
HP:0005301	Persistent left superior vena cava	54768	HYDIN	ORPHA:244
HP:0005301	Persistent left superior vena cava	352909	DNAAF3	ORPHA:244
HP:0005301	Persistent left superior vena cava	27148	STK36	ORPHA:244
HP:0005301	Persistent left superior vena cava	51314	NME8	ORPHA:244
HP:0005301	Persistent left superior vena cava	92749	DRC1	ORPHA:244
HP:0005301	Persistent left superior vena cava	54970	TTC12	ORPHA:244
HP:0005301	Persistent left superior vena cava	152110	NEK10	ORPHA:244
HP:0005301	Persistent left superior vena cava	8481	OFD1	ORPHA:244
HP:0005301	Persistent left superior vena cava	2302	FOXJ1	ORPHA:244
HP:0005301	Persistent left superior vena cava	221421	RSPH9	ORPHA:244
HP:0005301	Persistent left superior vena cava	85478	CCDC65	ORPHA:244
HP:0005301	Persistent left superior vena cava	55036	CCDC40	ORPHA:244
HP:0005301	Persistent left superior vena cava	51364	ZMYND10	ORPHA:244
HP:0005301	Persistent left superior vena cava	64446	DNAI2	ORPHA:244
HP:0005301	Persistent left superior vena cava	6674	SPAG1	ORPHA:244
HP:0005301	Persistent left superior vena cava	83544	DNAL1	ORPHA:244
HP:0005301	Persistent left superior vena cava	89765	RSPH1	ORPHA:244
HP:0005301	Persistent left superior vena cava	83538	ODAD4	ORPHA:244
HP:0005301	Persistent left superior vena cava	200373	CFAP221	ORPHA:244
HP:0005301	Persistent left superior vena cava	374407	DNAJB13	ORPHA:244
HP:0005301	Persistent left superior vena cava	55172	DNAAF2	ORPHA:244
HP:0005301	Persistent left superior vena cava	161582	DNAAF4	ORPHA:244
HP:0005301	Persistent left superior vena cava	2622	GAS8	ORPHA:244
HP:0005301	Persistent left superior vena cava	23639	DNAAF11	ORPHA:244
HP:0005301	Persistent left superior vena cava	27019	DNAI1	ORPHA:244
HP:0005301	Persistent left superior vena cava	345895	RSPH4A	ORPHA:244
HP:0005301	Persistent left superior vena cava	54919	DNAAF5	ORPHA:244
HP:0005301	Persistent left superior vena cava	6103	RPGR	ORPHA:244
HP:0005301	Persistent left superior vena cava	388389	CCDC103	ORPHA:244
HP:0005301	Persistent left superior vena cava	93233	ODAD1	ORPHA:244
HP:0005301	Persistent left superior vena cava	93233	ODAD1	OMIM:615067
HP:0005301	Persistent left superior vena cava	55130	ODAD2	ORPHA:244
HP:0005301	Persistent left superior vena cava	1767	DNAH5	ORPHA:244
HP:0005301	Persistent left superior vena cava	83861	RSPH3	ORPHA:244
HP:0005301	Persistent left superior vena cava	345643	MCIDAS	ORPHA:244
HP:0005301	Persistent left superior vena cava	56683	CFAP298	ORPHA:244
HP:0005301	Persistent left superior vena cava	79925	SPEF2	ORPHA:244
HP:0005301	Persistent left superior vena cava	10309	CCNO	ORPHA:244
HP:0005301	Persistent left superior vena cava	115399	LRRC56	ORPHA:244
HP:0005301	Persistent left superior vena cava	139212	DNAAF6	ORPHA:244
HP:0005301	Persistent left superior vena cava	123872	DNAAF1	ORPHA:244
HP:0005301	Persistent left superior vena cava	85016	CFAP300	ORPHA:244
HP:0005301	Persistent left superior vena cava	339829	CCDC39	ORPHA:244
HP:0005301	Persistent left superior vena cava	8701	DNAH11	ORPHA:244
HP:0005301	Persistent left superior vena cava	1770	DNAH9	ORPHA:244
HP:0005301	Persistent left superior vena cava	246176	GAS2L2	ORPHA:244
HP:0005301	Persistent left superior vena cava	10743	RAI1	ORPHA:477817
HP:0005301	Persistent left superior vena cava	10847	SRCAP	OMIM:136140
HP:0005301	Persistent left superior vena cava	10847	SRCAP	ORPHA:2044
HP:0005301	Persistent left superior vena cava	2187	FANCB	OMIM:314390
HP:0005301	Persistent left superior vena cava	7547	ZIC3	OMIM:314390
HP:0005301	Persistent left superior vena cava	55181	SMG8	OMIM:619268
HP:0005301	Persistent left superior vena cava	374879	ZNF699	OMIM:619488
HP:0005301	Persistent left superior vena cava	7386	UQCRFS1	OMIM:618775
HP:0005301	Persistent left superior vena cava	1822	ATN1	OMIM:618494
HP:0005301	Persistent left superior vena cava	4281	MID1	ORPHA:2745
HP:0005301	Persistent left superior vena cava	2783	GNB2	OMIM:619503
HP:0005301	Persistent left superior vena cava	1161	ERCC8	OMIM:216400
HP:0005301	Persistent left superior vena cava	8241	RBM10	ORPHA:2886
HP:0005301	Persistent left superior vena cava	54892	NCAPG2	OMIM:618460
HP:0005301	Persistent left superior vena cava	4087	SMAD2	OMIM:619657
HP:0005301	Persistent left superior vena cava	8772	FADD	OMIM:613759
HP:0005301	Persistent left superior vena cava	55315	SLC29A3	OMIM:602782
HP:0005301	Persistent left superior vena cava	81857	MED25	ORPHA:464738
HP:0005301	Persistent left superior vena cava	100128908	CIROP	OMIM:619702
HP:0005301	Persistent left superior vena cava	5567	PRKACB	OMIM:619143
HP:0005301	Persistent left superior vena cava	93	ACVR2B	OMIM:613751
HP:0005301	Persistent left superior vena cava	10128	LRPPRC	OMIM:220111
HP:0005301	Persistent left superior vena cava	55997	CFC1	OMIM:605376
HP:0005302	Carotid artery tortuosity	7703	PCGF2	OMIM:618371
HP:0005302	Carotid artery tortuosity	1289	COL5A1	OMIM:619329
HP:0005302	Carotid artery tortuosity	538	ATP7A	OMIM:304150
HP:0005302	Carotid artery tortuosity	10526	IPO8	OMIM:619472
HP:0005303	Aortic arch calcification	64135	IFIH1	OMIM:182250
HP:0005304	Hypoplastic pulmonary veins	10491	CRTAP	OMIM:610682
HP:0005304	Hypoplastic pulmonary veins	2657	GDF1	OMIM:613854
HP:0005304	Hypoplastic pulmonary veins	340419	RSPO2	OMIM:618021
HP:0005305	Cerebral venous thrombosis	5573	PRKAR1A	ORPHA:280651
HP:0005305	Cerebral venous thrombosis	5144	PDE4D	ORPHA:280651
HP:0005305	Cerebral venous thrombosis	5627	PROS1	OMIM:614514
HP:0005305	Cerebral venous thrombosis	5627	PROS1	OMIM:612336
HP:0005305	Cerebral venous thrombosis	5236	PGM1	OMIM:614921
HP:0005305	Cerebral venous thrombosis	462	SERPINC1	OMIM:613118
HP:0005305	Cerebral venous thrombosis	462	SERPINC1	ORPHA:82
HP:0005305	Cerebral venous thrombosis	5624	PROC	OMIM:176860
HP:0005305	Cerebral venous thrombosis	2162	F13A1	OMIM:188050
HP:0005305	Cerebral venous thrombosis	2147	F2	OMIM:188050
HP:0005305	Cerebral venous thrombosis	3026	HABP2	OMIM:188050
HP:0005305	Cerebral venous thrombosis	4524	MTHFR	OMIM:188050
HP:0005306	Capillary hemangioma	1717	DHCR7	OMIM:270400
HP:0005306	Capillary hemangioma	1717	DHCR7	ORPHA:818
HP:0005306	Capillary hemangioma	2050	EPHB4	ORPHA:137667
HP:0005306	Capillary hemangioma	80036	TRPM3	OMIM:620224
HP:0005306	Capillary hemangioma	9939	RBM8A	OMIM:274000
HP:0005306	Capillary hemangioma	2137	EXTL3	ORPHA:508533
HP:0005306	Capillary hemangioma	9653	HS2ST1	OMIM:619194
HP:0005306	Capillary hemangioma	10484	SEC23A	ORPHA:50814
HP:0005306	Capillary hemangioma	10484	SEC23A	OMIM:607812
HP:0005306	Capillary hemangioma	1387	CREBBP	OMIM:180849
HP:0005306	Capillary hemangioma	2033	EP300	OMIM:180849
HP:0005306	Capillary hemangioma	1857	DVL3	ORPHA:3107
HP:0005306	Capillary hemangioma	7474	WNT5A	ORPHA:3107
HP:0005306	Capillary hemangioma	1855	DVL1	ORPHA:3107
HP:0005306	Capillary hemangioma	2535	FZD2	ORPHA:3107
HP:0005306	Capillary hemangioma	2260	FGFR1	ORPHA:2396
HP:0005306	Capillary hemangioma	3845	KRAS	ORPHA:2396
HP:0005306	Capillary hemangioma	5728	PTEN	ORPHA:109
HP:0005306	Capillary hemangioma	5728	PTEN	ORPHA:744
HP:0005306	Capillary hemangioma	5921	RASA1	OMIM:608354
HP:0005306	Capillary hemangioma	526	ATP6V1B2	ORPHA:79500
HP:0005306	Capillary hemangioma	57465	TBC1D24	ORPHA:79500
HP:0005306	Capillary hemangioma	207	AKT1	ORPHA:744
HP:0005306	Capillary hemangioma	2776	GNAQ	ORPHA:3205
HP:0005306	Capillary hemangioma	22827	PUF60	ORPHA:508488
HP:0005306	Capillary hemangioma	2324	FLT4	OMIM:602089
HP:0005306	Capillary hemangioma	84168	ANTXR1	OMIM:602089
HP:0005306	Capillary hemangioma	3791	KDR	OMIM:602089
HP:0005306	Capillary hemangioma	129563	DIS3L2	ORPHA:2849
HP:0005306	Capillary hemangioma	2767	GNA11	ORPHA:1556
HP:0005306	Capillary hemangioma	151188	ARL6IP6	ORPHA:1556
HP:0005306	Capillary hemangioma	440275	EIF2AK4	OMIM:234810
HP:0005306	Capillary hemangioma	440275	EIF2AK4	ORPHA:199241
HP:0005306	Capillary hemangioma	595	CCND1	OMIM:193300
HP:0005306	Capillary hemangioma	7428	VHL	OMIM:193300
HP:0005306	Capillary hemangioma	157570	ESCO2	OMIM:268300
HP:0005306	Capillary hemangioma	157570	ESCO2	ORPHA:3103
HP:0005306	Capillary hemangioma	9401	RECQL4	OMIM:218600
HP:0005306	Capillary hemangioma	4247	MGAT2	OMIM:212066
HP:0005306	Capillary hemangioma	5447	POR	ORPHA:95699
HP:0005306	Capillary hemangioma	2737	GLI3	ORPHA:672
HP:0005306	Capillary hemangioma	2737	GLI3	OMIM:146510
HP:0005306	Capillary hemangioma	10225	CD96	ORPHA:1308
HP:0005307	Postural hypotension with compensatory tachycardia	4914	NTRK1	OMIM:256800
HP:0005307	Postural hypotension with compensatory tachycardia	6492	SIM1	ORPHA:369873
HP:0005308	Pulmonary artery vasoconstriction	659	BMPR2	OMIM:178600
HP:0005310	Large vessel vasculitis	7454	WAS	OMIM:301000
HP:0005310	Large vessel vasculitis	64127	NOD2	ORPHA:90340
HP:0005311	Agenesis of pulmonary vessels	64220	STRA6	OMIM:601186
HP:0005312	Pulmonary aterial intimal fibrosis	659	BMPR2	OMIM:178600
HP:0005313	Arterial fibromuscular dysplasia	55901	THSD1	OMIM:618734
HP:0005313	Arterial fibromuscular dysplasia	1289	COL5A1	OMIM:619329
HP:0005316	Peripheral pulmonary vessel aplasia	7473	WNT3	OMIM:273395
HP:0005317	Increased pulmonary vascular resistance	3777	KCNK3	OMIM:615344
HP:0005317	Increased pulmonary vascular resistance	7092	TLL1	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	57057	TBX20	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	4624	MYH6	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	1482	NKX2-5	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	70	ACTC1	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	10370	CITED2	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	2626	GATA4	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	2627	GATA6	ORPHA:99103
HP:0005317	Increased pulmonary vascular resistance	10568	SLC34A2	ORPHA:60025
HP:0005317	Increased pulmonary vascular resistance	659	BMPR2	OMIM:178600
HP:0005317	Increased pulmonary vascular resistance	4093	SMAD9	OMIM:615342
HP:0005317	Increased pulmonary vascular resistance	857	CAV1	OMIM:615343
HP:0005318	Cerebral vasculitis	4860	PNP	OMIM:613179
HP:0005318	Cerebral vasculitis	81704	DOCK8	OMIM:243700
HP:0005318	Cerebral vasculitis	10621	POLR3F	OMIM:619872
HP:0000272	Malar flattening	50964	SOST	OMIM:269500
HP:0000272	Malar flattening	1280	COL2A1	OMIM:271700
HP:0000272	Malar flattening	1280	COL2A1	OMIM:108300
HP:0000272	Malar flattening	1280	COL2A1	OMIM:156550
HP:0000272	Malar flattening	1280	COL2A1	ORPHA:166100
HP:0000272	Malar flattening	1280	COL2A1	OMIM:183900
HP:0000272	Malar flattening	1280	COL2A1	ORPHA:85166
HP:0000272	Malar flattening	10128	LRPPRC	OMIM:220111
HP:0000272	Malar flattening	7528	YY1	ORPHA:506358
HP:0000272	Malar flattening	7528	YY1	OMIM:617557
HP:0000272	Malar flattening	2077	ERF	OMIM:600775
HP:0000272	Malar flattening	9131	AIFM1	OMIM:300232
HP:0000272	Malar flattening	6535	SLC6A8	OMIM:300352
HP:0000272	Malar flattening	6535	SLC6A8	ORPHA:52503
HP:0000272	Malar flattening	11253	MAN1B1	ORPHA:397941
HP:0000272	Malar flattening	11253	MAN1B1	OMIM:614202
HP:0000272	Malar flattening	10262	SF3B4	OMIM:154400
HP:0000272	Malar flattening	10262	SF3B4	ORPHA:1788
HP:0000272	Malar flattening	2200	FBN1	ORPHA:1885
HP:0000272	Malar flattening	2200	FBN1	OMIM:154700
HP:0000272	Malar flattening	54507	ADAMTSL4	ORPHA:1885
HP:0000272	Malar flattening	8425	LTBP4	OMIM:613177
HP:0000272	Malar flattening	55624	POMGNT1	OMIM:253280
HP:0000272	Malar flattening	2261	FGFR3	ORPHA:53271
HP:0000272	Malar flattening	2261	FGFR3	ORPHA:93262
HP:0000272	Malar flattening	2261	FGFR3	OMIM:146000
HP:0000272	Malar flattening	2261	FGFR3	OMIM:100800
HP:0000272	Malar flattening	2261	FGFR3	OMIM:602849
HP:0000272	Malar flattening	55777	MBD5	ORPHA:228402
HP:0000272	Malar flattening	3636	INPPL1	ORPHA:3144
HP:0000272	Malar flattening	23169	SLC35D1	ORPHA:3144
HP:0000272	Malar flattening	23169	SLC35D1	OMIM:269250
HP:0000272	Malar flattening	10992	SF3B2	OMIM:164210
HP:0000272	Malar flattening	4000	LMNA	OMIM:176670
HP:0000272	Malar flattening	118987	PDZD8	OMIM:620021
HP:0000272	Malar flattening	23126	POGZ	ORPHA:468678
HP:0000272	Malar flattening	23126	POGZ	OMIM:616364
HP:0000272	Malar flattening	2316	FLNA	OMIM:300244
HP:0000272	Malar flattening	2316	FLNA	ORPHA:90652
HP:0000272	Malar flattening	2316	FLNA	OMIM:304120
HP:0000272	Malar flattening	2316	FLNA	OMIM:311300
HP:0000272	Malar flattening	267010	RNU12	OMIM:603116
HP:0000272	Malar flattening	613	BCR	ORPHA:261330
HP:0000272	Malar flattening	1399	CRKL	ORPHA:261330
HP:0000272	Malar flattening	5594	MAPK1	ORPHA:261330
HP:0000272	Malar flattening	80816	ASXL3	OMIM:615485
HP:0000272	Malar flattening	1723	DHODH	OMIM:263750
HP:0000272	Malar flattening	1723	DHODH	ORPHA:246
HP:0000272	Malar flattening	10084	PQBP1	ORPHA:93946
HP:0000272	Malar flattening	10084	PQBP1	OMIM:309500
HP:0000272	Malar flattening	29072	SETD2	OMIM:620157
HP:0000272	Malar flattening	29072	SETD2	OMIM:620155
HP:0000272	Malar flattening	29072	SETD2	OMIM:616831
HP:0000272	Malar flattening	5189	PEX1	OMIM:214100
HP:0000272	Malar flattening	4038	LRP4	ORPHA:3258
HP:0000272	Malar flattening	4038	LRP4	OMIM:212780
HP:0000272	Malar flattening	324	APC	ORPHA:3258
HP:0000272	Malar flattening	55650	PIGV	OMIM:239300
HP:0000272	Malar flattening	1301	COL11A1	OMIM:154780
HP:0000272	Malar flattening	1301	COL11A1	OMIM:228520
HP:0000272	Malar flattening	1301	COL11A1	ORPHA:250984
HP:0000272	Malar flattening	1301	COL11A1	OMIM:604841
HP:0000272	Malar flattening	1301	COL11A1	ORPHA:560
HP:0000272	Malar flattening	7021	TFAP2B	ORPHA:46627
HP:0000272	Malar flattening	4853	NOTCH2	OMIM:102500
HP:0000272	Malar flattening	9968	MED12	ORPHA:93932
HP:0000272	Malar flattening	9326	ZNHIT3	ORPHA:2836
HP:0000272	Malar flattening	547	KIF1A	ORPHA:2836
HP:0000272	Malar flattening	5426	POLE	OMIM:615139
HP:0000272	Malar flattening	51109	RDH11	OMIM:616108
HP:0000272	Malar flattening	51109	RDH11	ORPHA:436245
HP:0000272	Malar flattening	55858	TMEM165	OMIM:614727
HP:0000272	Malar flattening	2317	FLNB	OMIM:108721
HP:0000272	Malar flattening	2317	FLNB	OMIM:108720
HP:0000272	Malar flattening	2317	FLNB	OMIM:150250
HP:0000272	Malar flattening	2317	FLNB	ORPHA:503
HP:0000272	Malar flattening	2263	FGFR2	ORPHA:93259
HP:0000272	Malar flattening	2263	FGFR2	OMIM:101400
HP:0000272	Malar flattening	2263	FGFR2	OMIM:123790
HP:0000272	Malar flattening	2263	FGFR2	OMIM:101200
HP:0000272	Malar flattening	2263	FGFR2	OMIM:207410
HP:0000272	Malar flattening	2263	FGFR2	OMIM:614592
HP:0000272	Malar flattening	2263	FGFR2	ORPHA:1555
HP:0000272	Malar flattening	2263	FGFR2	OMIM:123150
HP:0000272	Malar flattening	5191	PEX7	OMIM:215100
HP:0000272	Malar flattening	7020	TFAP2A	OMIM:113620
HP:0000272	Malar flattening	1302	COL11A2	OMIM:184840
HP:0000272	Malar flattening	1302	COL11A2	OMIM:614524
HP:0000272	Malar flattening	1302	COL11A2	OMIM:215150
HP:0000272	Malar flattening	1302	COL11A2	ORPHA:166100
HP:0000272	Malar flattening	10484	SEC23A	OMIM:607812
HP:0000272	Malar flattening	860	RUNX2	OMIM:119600
HP:0000272	Malar flattening	79813	EHMT1	OMIM:610253
HP:0000272	Malar flattening	7291	TWIST1	OMIM:101400
HP:0000272	Malar flattening	7291	TWIST1	OMIM:180750
HP:0000272	Malar flattening	5144	PDE4D	OMIM:614613
HP:0000272	Malar flattening	5144	PDE4D	ORPHA:439822
HP:0000272	Malar flattening	5144	PDE4D	ORPHA:280651
HP:0000272	Malar flattening	23314	SATB2	OMIM:612313
HP:0000272	Malar flattening	55636	CHD7	OMIM:214800
HP:0000272	Malar flattening	8642	DCHS1	OMIM:601390
HP:0000272	Malar flattening	26040	SETBP1	OMIM:269150
HP:0000272	Malar flattening	374654	KIF7	OMIM:607131
HP:0000272	Malar flattening	2296	FOXC1	OMIM:602482
HP:0000272	Malar flattening	1789	DNMT3B	OMIM:242860
HP:0000272	Malar flattening	1836	SLC26A2	OMIM:600972
HP:0000272	Malar flattening	1836	SLC26A2	OMIM:256050
HP:0000272	Malar flattening	5447	POR	OMIM:201750
HP:0000272	Malar flattening	5447	POR	OMIM:207410
HP:0000272	Malar flattening	4803	NGF	ORPHA:64752
HP:0000272	Malar flattening	4914	NTRK1	ORPHA:64752
HP:0000272	Malar flattening	81031	SLC2A10	ORPHA:3342
HP:0000272	Malar flattening	81031	SLC2A10	OMIM:208050
HP:0000272	Malar flattening	11128	POLR3A	OMIM:264090
HP:0000272	Malar flattening	11128	POLR3A	ORPHA:3455
HP:0000272	Malar flattening	157570	ESCO2	ORPHA:3103
HP:0000272	Malar flattening	157570	ESCO2	OMIM:268300
HP:0000272	Malar flattening	145258	GSC	OMIM:602471
HP:0000272	Malar flattening	2736	GLI2	OMIM:610829
HP:0000272	Malar flattening	4036	LRP2	OMIM:222448
HP:0000272	Malar flattening	79718	TBL1XR1	OMIM:602342
HP:0000272	Malar flattening	79718	TBL1XR1	ORPHA:487825
HP:0000272	Malar flattening	26137	ZBTB20	OMIM:259050
HP:0000272	Malar flattening	4089	SMAD4	OMIM:139210
HP:0000272	Malar flattening	4849	CNOT3	OMIM:618672
HP:0000272	Malar flattening	641	BLM	OMIM:210900
HP:0000272	Malar flattening	641	BLM	ORPHA:125
HP:0000272	Malar flattening	57492	ARID1B	ORPHA:251056
HP:0000272	Malar flattening	6231	RPS26	OMIM:613309
HP:0000272	Malar flattening	51085	MLXIPL	OMIM:194050
HP:0000272	Malar flattening	2006	ELN	OMIM:194050
HP:0000272	Malar flattening	124583	CANT1	OMIM:251450
HP:0000272	Malar flattening	3187	HNRNPH1	OMIM:620083
HP:0000272	Malar flattening	4920	ROR2	OMIM:268310
HP:0000272	Malar flattening	3835	KIF22	OMIM:603546
HP:0000272	Malar flattening	7030	TFE3	OMIM:301066
HP:0000272	Malar flattening	3339	HSPG2	OMIM:224410
HP:0000272	Malar flattening	3339	HSPG2	OMIM:255800
HP:0000272	Malar flattening	10743	RAI1	OMIM:182290
HP:0000272	Malar flattening	6949	TCOF1	OMIM:154500
HP:0000272	Malar flattening	6949	TCOF1	ORPHA:861
HP:0000272	Malar flattening	27086	FOXP1	OMIM:613670
HP:0000272	Malar flattening	546	ATRX	OMIM:309580
HP:0000272	Malar flattening	546	ATRX	OMIM:301040
HP:0000272	Malar flattening	10735	STAG2	ORPHA:521258
HP:0000272	Malar flattening	5818	NECTIN1	OMIM:225060
HP:0000272	Malar flattening	23483	TGDS	ORPHA:1388
HP:0000272	Malar flattening	2260	FGFR1	OMIM:166250
HP:0000272	Malar flattening	2260	FGFR1	OMIM:123150
HP:0000272	Malar flattening	22930	RAB3GAP1	ORPHA:1387
HP:0000272	Malar flattening	25782	RAB3GAP2	ORPHA:1387
HP:0000272	Malar flattening	4088	SMAD3	OMIM:613795
HP:0000272	Malar flattening	4088	SMAD3	ORPHA:284984
HP:0000272	Malar flattening	7048	TGFBR2	OMIM:610168
HP:0000272	Malar flattening	7048	TGFBR2	ORPHA:60030
HP:0000272	Malar flattening	51574	LARP7	ORPHA:319671
HP:0000272	Malar flattening	51574	LARP7	OMIM:615071
HP:0000272	Malar flattening	147372	CCBE1	OMIM:235510
HP:0000272	Malar flattening	50945	TBX22	ORPHA:921
HP:0000272	Malar flattening	701	BUB1B	OMIM:257300
HP:0000272	Malar flattening	10682	EBP	OMIM:302960
HP:0000272	Malar flattening	8626	TP63	ORPHA:69085
HP:0000272	Malar flattening	8626	TP63	OMIM:604292
HP:0000272	Malar flattening	4883	NPR3	OMIM:619543
HP:0000272	Malar flattening	55212	BBS7	OMIM:615984
HP:0000272	Malar flattening	2702	GJA5	OMIM:612474
HP:0000272	Malar flattening	2703	GJA8	OMIM:612474
HP:0000272	Malar flattening	7046	TGFBR1	ORPHA:60030
HP:0000272	Malar flattening	7046	TGFBR1	OMIM:609192
HP:0000272	Malar flattening	10526	IPO8	ORPHA:60030
HP:0000272	Malar flattening	9533	POLR1C	OMIM:248390
HP:0000272	Malar flattening	9533	POLR1C	ORPHA:861
HP:0000272	Malar flattening	1297	COL9A1	ORPHA:250984
HP:0000272	Malar flattening	1298	COL9A2	ORPHA:250984
HP:0000272	Malar flattening	1299	COL9A3	ORPHA:250984
HP:0000272	Malar flattening	84695	LOXL3	ORPHA:250984
HP:0000272	Malar flattening	4921	DDR2	OMIM:271665
HP:0000272	Malar flattening	8925	HERC1	OMIM:617011
HP:0000272	Malar flattening	8925	HERC1	ORPHA:457359
HP:0000272	Malar flattening	5193	PEX12	OMIM:266510
HP:0000272	Malar flattening	65062	TMEM237	OMIM:614424
HP:0000272	Malar flattening	89970	RSPRY1	OMIM:616723
HP:0000272	Malar flattening	89970	RSPRY1	ORPHA:457395
HP:0000272	Malar flattening	23363	OBSL1	OMIM:612921
HP:0000272	Malar flattening	85358	SHANK3	OMIM:606232
HP:0000272	Malar flattening	85358	SHANK3	ORPHA:48652
HP:0000272	Malar flattening	50814	NSDHL	ORPHA:251383
HP:0000272	Malar flattening	50814	NSDHL	OMIM:300831
HP:0000272	Malar flattening	5745	PTH1R	OMIM:215045
HP:0000272	Malar flattening	5745	PTH1R	ORPHA:50945
HP:0000272	Malar flattening	128869	PIGU	OMIM:618590
HP:0000272	Malar flattening	650	BMP2	ORPHA:261295
HP:0000272	Malar flattening	91179	SCARF2	OMIM:600920
HP:0000272	Malar flattening	4854	NOTCH3	OMIM:130720
HP:0000272	Malar flattening	4854	NOTCH3	ORPHA:2789
HP:0000272	Malar flattening	2623	GATA1	OMIM:190685
HP:0000272	Malar flattening	1289	COL5A1	OMIM:619329
HP:0000272	Malar flattening	176	ACAN	OMIM:612813
HP:0000272	Malar flattening	56975	FAM20C	OMIM:259775
HP:0000272	Malar flattening	4763	NF1	OMIM:601321
HP:0000272	Malar flattening	4763	NF1	ORPHA:139474
HP:0000272	Malar flattening	90161	HS6ST2	OMIM:301025
HP:0000272	Malar flattening	1741	DLG3	OMIM:300850
HP:0000272	Malar flattening	3039	HBA1	ORPHA:98791
HP:0000272	Malar flattening	3040	HBA2	ORPHA:98791
HP:0000272	Malar flattening	4621	MYH3	OMIM:193700
HP:0000272	Malar flattening	51132	RLIM	OMIM:300978
HP:0000272	Malar flattening	4125	MAN2B1	OMIM:248500
HP:0000272	Malar flattening	54496	PRMT7	OMIM:617157
HP:0000272	Malar flattening	10082	GPC6	OMIM:258315
HP:0000272	Malar flattening	5831	PYCR1	OMIM:612940
HP:0000272	Malar flattening	5831	PYCR1	ORPHA:2078
HP:0000272	Malar flattening	9820	CUL7	OMIM:273750
HP:0000272	Malar flattening	92344	GORAB	OMIM:231070
HP:0000272	Malar flattening	92344	GORAB	ORPHA:2078
HP:0000272	Malar flattening	3759	KCNJ2	OMIM:170390
HP:0000272	Malar flattening	1312	COMT	ORPHA:567
HP:0000272	Malar flattening	221037	JMJD1C	ORPHA:567
HP:0000272	Malar flattening	2812	GP1BB	ORPHA:567
HP:0000272	Malar flattening	6239	RREB1	ORPHA:567
HP:0000272	Malar flattening	6899	TBX1	ORPHA:567
HP:0000272	Malar flattening	7290	HIRA	ORPHA:567
HP:0000272	Malar flattening	9632	SEC24C	ORPHA:567
HP:0000272	Malar flattening	7353	UFD1	ORPHA:567
HP:0000272	Malar flattening	421	ARVCF	ORPHA:567
HP:0000272	Malar flattening	1009	CDH11	OMIM:211380
HP:0000272	Malar flattening	6898	TAT	ORPHA:28378
HP:0000272	Malar flattening	444	ASPH	OMIM:601552
HP:0000272	Malar flattening	6469	SHH	OMIM:142945
HP:0000272	Malar flattening	7703	PCGF2	OMIM:618371
HP:0000272	Malar flattening	7319	UBE2A	OMIM:300860
HP:0000272	Malar flattening	1277	COL1A1	OMIM:130060
HP:0000272	Malar flattening	9496	TBX4	ORPHA:261279
HP:0000272	Malar flattening	633	BGN	OMIM:300989
HP:0000272	Malar flattening	3977	LIFR	OMIM:601559
HP:0000272	Malar flattening	5277	PIGA	OMIM:300868
HP:0000272	Malar flattening	8985	PLOD3	OMIM:612394
HP:0000272	Malar flattening	79633	FAT4	OMIM:615546
HP:0000272	Malar flattening	9343	EFTUD2	OMIM:610536
HP:0000272	Malar flattening	9343	EFTUD2	ORPHA:79113
HP:0000272	Malar flattening	84172	POLR1B	OMIM:618939
HP:0000272	Malar flattening	84172	POLR1B	ORPHA:861
HP:0000272	Malar flattening	6628	SNRPB	OMIM:117650
HP:0000272	Malar flattening	2892	GRIA3	ORPHA:364028
HP:0000272	Malar flattening	51604	PIGT	ORPHA:369837
HP:0000272	Malar flattening	5702	PSMC3	OMIM:619354
HP:0000272	Malar flattening	4796	TONSL	OMIM:271510
HP:0000272	Malar flattening	23545	ATP6V0A2	OMIM:219200
HP:0000272	Malar flattening	23545	ATP6V0A2	ORPHA:357074
HP:0000272	Malar flattening	23630	KCNE5	ORPHA:86818
HP:0000272	Malar flattening	2182	ACSL4	ORPHA:86818
HP:0000272	Malar flattening	9949	AMMECR1	ORPHA:86818
HP:0000272	Malar flattening	51082	POLR1D	ORPHA:861
HP:0000272	Malar flattening	51082	POLR1D	OMIM:613717
HP:0000272	Malar flattening	4841	NONO	OMIM:300967
HP:0000272	Malar flattening	4841	NONO	ORPHA:466791
HP:0000272	Malar flattening	51715	RAB23	OMIM:201000
HP:0000272	Malar flattening	25839	COG4	ORPHA:85172
HP:0000272	Malar flattening	3756	KCNH1	ORPHA:420561
HP:0000272	Malar flattening	126792	B3GALT6	OMIM:271640
HP:0000272	Malar flattening	9759	HDAC4	OMIM:600430
HP:0000272	Malar flattening	4094	MAF	OMIM:601088
HP:0000272	Malar flattening	5295	PIK3R1	ORPHA:3163
HP:0000272	Malar flattening	4256	MGP	OMIM:245150
HP:0000272	Malar flattening	523	ATP6V1A	ORPHA:357074
HP:0000272	Malar flattening	529	ATP6V1E1	ORPHA:357074
HP:0000272	Malar flattening	529	ATP6V1E1	OMIM:617402
HP:0000272	Malar flattening	29920	PYCR2	OMIM:616420
HP:0000272	Malar flattening	178	AGL	OMIM:232400
HP:0000272	Malar flattening	100151683	RNU4ATAC	ORPHA:2636
HP:0000272	Malar flattening	387	RHOA	OMIM:618727
HP:0000272	Malar flattening	5449	POU1F1	OMIM:613038
HP:0000272	Malar flattening	4693	NDP	ORPHA:649
HP:0000272	Malar flattening	9939	RBM8A	OMIM:274000
HP:0000272	Malar flattening	6496	SIX3	OMIM:157170
HP:0000272	Malar flattening	7474	WNT5A	OMIM:180700
HP:0000272	Malar flattening	1855	DVL1	OMIM:180700
HP:0000272	Malar flattening	5573	PRKAR1A	ORPHA:280651
HP:0000272	Malar flattening	9130	FAM50A	OMIM:300261
HP:0000272	Malar flattening	4204	MECP2	OMIM:300260
HP:0000272	Malar flattening	2535	FZD2	ORPHA:93328
HP:0000272	Malar flattening	5077	PAX3	OMIM:122880
HP:0000272	Malar flattening	871	SERPINH1	OMIM:613848
HP:0000272	Malar flattening	121340	SP7	OMIM:613849
HP:0005320	Lack of facial subcutaneous fat	857	CAV1	OMIM:606721
HP:0005320	Lack of facial subcutaneous fat	3763	KCNJ6	OMIM:614098
HP:0005321	Mandibulofacial dysostosis	9533	POLR1C	OMIM:248390
HP:0005321	Mandibulofacial dysostosis	1909	EDNRA	OMIM:616367
HP:0005321	Mandibulofacial dysostosis	6231	RPS26	OMIM:613309
HP:0005321	Mandibulofacial dysostosis	9343	EFTUD2	OMIM:610536
HP:0005322	Prominent nasal septum	1387	CREBBP	ORPHA:353277
HP:0005322	Prominent nasal septum	526	ATP6V1B2	OMIM:616455
HP:0005322	Prominent nasal septum	2033	EP300	ORPHA:353284
HP:0005324	Disturbance of facial expression	2737	GLI3	ORPHA:672
HP:0005324	Disturbance of facial expression	724066	ATXN8	ORPHA:98760
HP:0005324	Disturbance of facial expression	6315	ATXN8OS	ORPHA:98760
HP:0005324	Disturbance of facial expression	5138	PDE2A	OMIM:619150
HP:0005324	Disturbance of facial expression	57459	GATAD2B	ORPHA:363686
HP:0005324	Disturbance of facial expression	25953	PNKD	OMIM:118800
HP:0005324	Disturbance of facial expression	9860	LRIG2	OMIM:615112
HP:0005324	Disturbance of facial expression	1387	CREBBP	OMIM:180849
HP:0005324	Disturbance of facial expression	1387	CREBBP	ORPHA:353277
HP:0005324	Disturbance of facial expression	2033	EP300	OMIM:180849
HP:0005324	Disturbance of facial expression	2033	EP300	ORPHA:353284
HP:0005324	Disturbance of facial expression	1356	CP	ORPHA:48818
HP:0005324	Disturbance of facial expression	80025	PANK2	OMIM:234200
HP:0005324	Disturbance of facial expression	501	ALDH7A1	ORPHA:3006
HP:0005324	Disturbance of facial expression	11212	PLPBP	ORPHA:3006
HP:0005324	Disturbance of facial expression	4487	MSX1	ORPHA:141291
HP:0005324	Disturbance of facial expression	5818	NECTIN1	ORPHA:141291
HP:0005324	Disturbance of facial expression	8626	TP63	ORPHA:141291
HP:0005324	Disturbance of facial expression	3664	IRF6	ORPHA:141291
HP:0005324	Disturbance of facial expression	4204	MECP2	OMIM:300496
HP:0005324	Disturbance of facial expression	5376	PMP22	ORPHA:98916
HP:0005324	Disturbance of facial expression	1785	DNM2	OMIM:160150
HP:0005324	Disturbance of facial expression	64419	MTMR14	OMIM:160150
HP:0005324	Disturbance of facial expression	87178	PNPT1	OMIM:608703
HP:0005324	Disturbance of facial expression	87178	PNPT1	ORPHA:101111
HP:0005324	Disturbance of facial expression	8398	PLA2G6	OMIM:612953
HP:0005324	Disturbance of facial expression	3785	KCNQ2	ORPHA:1949
HP:0005324	Disturbance of facial expression	3786	KCNQ3	ORPHA:1949
HP:0005324	Disturbance of facial expression	6335	SCN9A	ORPHA:33069
HP:0005324	Disturbance of facial expression	6326	SCN2A	ORPHA:33069
HP:0005324	Disturbance of facial expression	2554	GABRA1	ORPHA:33069
HP:0005324	Disturbance of facial expression	6323	SCN1A	ORPHA:33069
HP:0005324	Disturbance of facial expression	6323	SCN1A	ORPHA:569
HP:0005324	Disturbance of facial expression	6324	SCN1B	ORPHA:33069
HP:0005324	Disturbance of facial expression	57526	PCDH19	ORPHA:33069
HP:0005324	Disturbance of facial expression	2566	GABRG2	ORPHA:33069
HP:0005324	Disturbance of facial expression	773	CACNA1A	ORPHA:569
HP:0005324	Disturbance of facial expression	112476	PRRT2	ORPHA:569
HP:0005324	Disturbance of facial expression	477	ATP1A2	ORPHA:569
HP:0005324	Disturbance of facial expression	7276	TTR	OMIM:105210
HP:0005325	Extension of hair growth on temples to lateral eyebrow	1371	CPOX	ORPHA:79273
HP:0005325	Extension of hair growth on temples to lateral eyebrow	80144	FRAS1	OMIM:219000
HP:0005326	Hypoplastic philtrum	546	ATRX	OMIM:309580
HP:0005326	Hypoplastic philtrum	10015	PDCD6IP	OMIM:620047
HP:0005326	Hypoplastic philtrum	4131	MAP1B	OMIM:618918
HP:0005326	Hypoplastic philtrum	2132	EXT2	OMIM:616682
HP:0005327	Loss of facial expression	5621	PRNP	ORPHA:282166
HP:0005327	Loss of facial expression	5621	PRNP	OMIM:123400
HP:0005327	Loss of facial expression	3119	HLA-DQB1	OMIM:123400
HP:0005328	Progeroid facial appearance	11285	B4GALT7	ORPHA:75496
HP:0005328	Progeroid facial appearance	2074	ERCC6	OMIM:133540
HP:0005328	Progeroid facial appearance	2074	ERCC6	ORPHA:90321
HP:0005328	Progeroid facial appearance	2074	ERCC6	ORPHA:90322
HP:0005328	Progeroid facial appearance	10804	GJB6	ORPHA:477
HP:0005328	Progeroid facial appearance	2706	GJB2	ORPHA:477
HP:0005328	Progeroid facial appearance	4000	LMNA	ORPHA:280365
HP:0005328	Progeroid facial appearance	4000	LMNA	ORPHA:79474
HP:0005328	Progeroid facial appearance	4000	LMNA	ORPHA:90153
HP:0005328	Progeroid facial appearance	3763	KCNJ6	ORPHA:435628
HP:0005328	Progeroid facial appearance	3763	KCNJ6	OMIM:614098
HP:0005328	Progeroid facial appearance	10269	ZMPSTE24	OMIM:608612
HP:0005328	Progeroid facial appearance	10269	ZMPSTE24	ORPHA:90154
HP:0005328	Progeroid facial appearance	81031	SLC2A10	OMIM:208050
HP:0005328	Progeroid facial appearance	7737	RNF113A	OMIM:300953
HP:0005328	Progeroid facial appearance	8425	LTBP4	OMIM:613177
HP:0005328	Progeroid facial appearance	10273	STUB1	ORPHA:412057
HP:0005328	Progeroid facial appearance	8815	BANF1	OMIM:614008
HP:0005328	Progeroid facial appearance	84823	LMNB2	ORPHA:79087
HP:0005328	Progeroid facial appearance	92344	GORAB	OMIM:231070
HP:0005328	Progeroid facial appearance	2006	ELN	OMIM:123700
HP:0005328	Progeroid facial appearance	5111	PCNA	OMIM:615919
HP:0005328	Progeroid facial appearance	1161	ERCC8	ORPHA:90321
HP:0005328	Progeroid facial appearance	1161	ERCC8	ORPHA:90322
HP:0005328	Progeroid facial appearance	1161	ERCC8	OMIM:216400
HP:0005328	Progeroid facial appearance	2072	ERCC4	ORPHA:90321
HP:0005328	Progeroid facial appearance	2067	ERCC1	ORPHA:90322
HP:0005328	Progeroid facial appearance	25839	COG4	OMIM:618150
HP:0005328	Progeroid facial appearance	857	CAV1	OMIM:606721
HP:0005328	Progeroid facial appearance	10651	MTX2	OMIM:619127
HP:0005328	Progeroid facial appearance	10651	MTX2	ORPHA:90153
HP:0005328	Progeroid facial appearance	23404	EXOSC2	OMIM:617763
HP:0005328	Progeroid facial appearance	23545	ATP6V0A2	OMIM:278250
HP:0005328	Progeroid facial appearance	2071	ERCC3	OMIM:610651
HP:0005328	Progeroid facial appearance	7486	WRN	OMIM:277700
HP:0005328	Progeroid facial appearance	5696	PSMB8	OMIM:256040
HP:0005328	Progeroid facial appearance	2200	FBN1	OMIM:616914
HP:0005328	Progeroid facial appearance	11128	POLR3A	ORPHA:3455
HP:0005329	Fixed facial expression	4137	MAPT	ORPHA:240094
HP:0005329	Fixed facial expression	63895	PIEZO2	OMIM:248700
HP:0000307	Pointed chin	9488	PIGB	OMIM:618580
HP:0000307	Pointed chin	7528	YY1	ORPHA:506358
HP:0000307	Pointed chin	7528	YY1	OMIM:617557
HP:0000307	Pointed chin	11253	MAN1B1	ORPHA:397941
HP:0000307	Pointed chin	11253	MAN1B1	OMIM:614202
HP:0000307	Pointed chin	5898	RALA	OMIM:619311
HP:0000307	Pointed chin	23013	SPEN	OMIM:619312
HP:0000307	Pointed chin	23013	SPEN	ORPHA:1606
HP:0000307	Pointed chin	51256	TBC1D7	OMIM:248000
HP:0000307	Pointed chin	54517	PUS7	OMIM:618342
HP:0000307	Pointed chin	2335	FN1	ORPHA:93315
HP:0000307	Pointed chin	1280	COL2A1	ORPHA:93315
HP:0000307	Pointed chin	10059	DNM1L	OMIM:614388
HP:0000307	Pointed chin	6885	MAP3K7	OMIM:617137
HP:0000307	Pointed chin	9820	CUL7	ORPHA:2616
HP:0000307	Pointed chin	9820	CUL7	OMIM:273750
HP:0000307	Pointed chin	23363	OBSL1	ORPHA:2616
HP:0000307	Pointed chin	23363	OBSL1	OMIM:612921
HP:0000307	Pointed chin	83987	CCDC8	ORPHA:2616
HP:0000307	Pointed chin	83987	CCDC8	OMIM:614205
HP:0000307	Pointed chin	6418	SET	OMIM:618106
HP:0000307	Pointed chin	85358	SHANK3	OMIM:606232
HP:0000307	Pointed chin	85358	SHANK3	ORPHA:48652
HP:0000307	Pointed chin	5457	POU4F1	ORPHA:314647
HP:0000307	Pointed chin	23261	CAMTA1	ORPHA:314647
HP:0000307	Pointed chin	23261	CAMTA1	OMIM:614756
HP:0000307	Pointed chin	9839	ZEB2	OMIM:235730
HP:0000307	Pointed chin	9839	ZEB2	ORPHA:261552
HP:0000307	Pointed chin	9839	ZEB2	ORPHA:261537
HP:0000307	Pointed chin	23126	POGZ	ORPHA:468678
HP:0000307	Pointed chin	23126	POGZ	OMIM:616364
HP:0000307	Pointed chin	55593	OTUD5	OMIM:301056
HP:0000307	Pointed chin	128869	PIGU	OMIM:618590
HP:0000307	Pointed chin	7707	ZNF148	OMIM:617260
HP:0000307	Pointed chin	116931	MED12L	OMIM:618872
HP:0000307	Pointed chin	613	BCR	ORPHA:261330
HP:0000307	Pointed chin	1399	CRKL	ORPHA:261330
HP:0000307	Pointed chin	5594	MAPK1	ORPHA:261330
HP:0000307	Pointed chin	5594	MAPK1	OMIM:619087
HP:0000307	Pointed chin	29998	BICRA	OMIM:619325
HP:0000307	Pointed chin	283489	CHAMP1	OMIM:616579
HP:0000307	Pointed chin	23431	AP4E1	OMIM:613744
HP:0000307	Pointed chin	29072	SETD2	OMIM:620157
HP:0000307	Pointed chin	29072	SETD2	OMIM:620155
HP:0000307	Pointed chin	29072	SETD2	OMIM:616831
HP:0000307	Pointed chin	26128	KIFBP	ORPHA:66629
HP:0000307	Pointed chin	57231	SNX14	ORPHA:397709
HP:0000307	Pointed chin	2316	FLNA	OMIM:305620
HP:0000307	Pointed chin	4001	LMNB1	OMIM:619179
HP:0000307	Pointed chin	64324	NSD1	OMIM:117550
HP:0000307	Pointed chin	23184	MESD	OMIM:618644
HP:0000307	Pointed chin	1183	CLCN4	ORPHA:485350
HP:0000307	Pointed chin	10015	PDCD6IP	OMIM:620047
HP:0000307	Pointed chin	1009	CDH11	OMIM:211380
HP:0000307	Pointed chin	1009	CDH11	ORPHA:1299
HP:0000307	Pointed chin	1000	CDH2	OMIM:618929
HP:0000307	Pointed chin	2248	FGF3	ORPHA:90024
HP:0000307	Pointed chin	222663	SCUBE3	OMIM:619184
HP:0000307	Pointed chin	6872	TAF1	ORPHA:480907
HP:0000307	Pointed chin	6872	TAF1	OMIM:300966
HP:0000307	Pointed chin	1105	CHD1	OMIM:617682
HP:0000307	Pointed chin	1105	CHD1	ORPHA:529965
HP:0000307	Pointed chin	5159	PDGFRB	OMIM:616592
HP:0000307	Pointed chin	22808	MRAS	OMIM:618499
HP:0000307	Pointed chin	23036	ZNF292	OMIM:619188
HP:0000307	Pointed chin	26040	SETBP1	OMIM:616078
HP:0000307	Pointed chin	8985	PLOD3	OMIM:612394
HP:0000307	Pointed chin	25	ABL1	OMIM:617602
HP:0000307	Pointed chin	6023	RMRP	OMIM:607095
HP:0000307	Pointed chin	200734	SPRED2	OMIM:619745
HP:0000307	Pointed chin	25942	SIN3A	OMIM:613406
HP:0000307	Pointed chin	3265	HRAS	OMIM:218040
HP:0000307	Pointed chin	60	ACTB	OMIM:243310
HP:0000307	Pointed chin	60	ACTB	ORPHA:2995
HP:0000307	Pointed chin	9653	HS2ST1	OMIM:619194
HP:0000307	Pointed chin	64840	PORCN	OMIM:305600
HP:0000307	Pointed chin	64840	PORCN	ORPHA:2092
HP:0000307	Pointed chin	55768	NGLY1	OMIM:615273
HP:0000307	Pointed chin	71	ACTG1	OMIM:614583
HP:0000307	Pointed chin	71	ACTG1	ORPHA:2995
HP:0000307	Pointed chin	57680	CHD8	OMIM:615032
HP:0000307	Pointed chin	8558	CDK10	OMIM:617694
HP:0000307	Pointed chin	6711	SPTBN1	OMIM:619475
HP:0000307	Pointed chin	3643	INSR	ORPHA:508
HP:0000307	Pointed chin	6804	STX1A	ORPHA:904
HP:0000307	Pointed chin	7461	CLIP2	ORPHA:904
HP:0000307	Pointed chin	84277	DNAJC30	ORPHA:904
HP:0000307	Pointed chin	8468	FKBP6	ORPHA:904
HP:0000307	Pointed chin	5982	RFC2	ORPHA:904
HP:0000307	Pointed chin	2969	GTF2I	ORPHA:904
HP:0000307	Pointed chin	3984	LIMK1	ORPHA:904
HP:0000307	Pointed chin	9569	GTF2IRD1	ORPHA:904
HP:0000307	Pointed chin	155382	VPS37D	ORPHA:904
HP:0000307	Pointed chin	155368	METTL27	ORPHA:904
HP:0000307	Pointed chin	114049	BUD23	ORPHA:904
HP:0000307	Pointed chin	7458	EIF4H	ORPHA:904
HP:0000307	Pointed chin	84163	GTF2IRD2	ORPHA:904
HP:0000307	Pointed chin	9275	BCL7B	ORPHA:904
HP:0000307	Pointed chin	26608	TBL2	ORPHA:904
HP:0000307	Pointed chin	653361	NCF1	ORPHA:904
HP:0000307	Pointed chin	135886	TMEM270	ORPHA:904
HP:0000307	Pointed chin	51085	MLXIPL	ORPHA:904
HP:0000307	Pointed chin	9031	BAZ1B	ORPHA:904
HP:0000307	Pointed chin	2006	ELN	ORPHA:904
HP:0000307	Pointed chin	116115	ZNF526	OMIM:619877
HP:0000307	Pointed chin	5593	PRKG2	OMIM:619636
HP:0000307	Pointed chin	5590	PRKCZ	ORPHA:1606
HP:0000307	Pointed chin	2563	GABRD	ORPHA:1606
HP:0000307	Pointed chin	8510	MMP23B	ORPHA:1606
HP:0000307	Pointed chin	7798	LUZP1	ORPHA:1606
HP:0000307	Pointed chin	6497	SKI	ORPHA:1606
HP:0000307	Pointed chin	10630	PDPN	ORPHA:1606
HP:0000307	Pointed chin	3339	HSPG2	ORPHA:1606
HP:0000307	Pointed chin	10277	UBE4B	ORPHA:1606
HP:0000307	Pointed chin	8514	KCNAB2	ORPHA:1606
HP:0000307	Pointed chin	473	RERE	ORPHA:1606
HP:0000307	Pointed chin	63976	PRDM16	ORPHA:1606
HP:0000307	Pointed chin	54897	CASZ1	ORPHA:1606
HP:0000307	Pointed chin	4784	NFIX	ORPHA:420179
HP:0000307	Pointed chin	11128	POLR3A	OMIM:264090
HP:0000307	Pointed chin	11128	POLR3A	ORPHA:3455
HP:0000307	Pointed chin	8405	SPOP	OMIM:618828
HP:0000307	Pointed chin	8405	SPOP	OMIM:618829
HP:0000307	Pointed chin	283209	PGM2L1	OMIM:620191
HP:0000307	Pointed chin	79228	THOC6	ORPHA:363444
HP:0000307	Pointed chin	8567	MADD	OMIM:619005
HP:0000307	Pointed chin	29123	ANKRD11	ORPHA:261250
HP:0000307	Pointed chin	29123	ANKRD11	OMIM:148050
HP:0000307	Pointed chin	7358	UGDH	OMIM:618792
HP:0000307	Pointed chin	91875	TTC5	OMIM:619244
HP:0000307	Pointed chin	3832	KIF11	ORPHA:2526
HP:0000307	Pointed chin	2542	SLC37A4	OMIM:619525
HP:0000307	Pointed chin	7025	NR2F1	OMIM:615722
HP:0000307	Pointed chin	9772	TMEM94	OMIM:618316
HP:0000307	Pointed chin	6901	TAFAZZIN	OMIM:302060
HP:0000307	Pointed chin	118924	FRA10AC1	OMIM:620113
HP:0000307	Pointed chin	9320	TRIP12	OMIM:617752
HP:0000307	Pointed chin	51780	KDM3B	OMIM:618846
HP:0000307	Pointed chin	7994	KAT6A	OMIM:616268
HP:0000307	Pointed chin	85378	TUBGCP6	ORPHA:2518
HP:0000307	Pointed chin	27229	TUBGCP4	ORPHA:2518
HP:0000307	Pointed chin	10733	PLK4	ORPHA:2518
HP:0000307	Pointed chin	4621	MYH3	ORPHA:2990
HP:0000307	Pointed chin	1146	CHRNG	ORPHA:2990
HP:0000307	Pointed chin	4853	NOTCH2	OMIM:610205
HP:0000307	Pointed chin	1795	DOCK3	OMIM:618292
HP:0000307	Pointed chin	11011	TLK2	OMIM:618050
HP:0000307	Pointed chin	57647	DHX37	OMIM:618731
HP:0000307	Pointed chin	2702	GJA5	OMIM:612474
HP:0000307	Pointed chin	2703	GJA8	OMIM:612474
HP:0000307	Pointed chin	523	ATP6V1A	OMIM:617403
HP:0000307	Pointed chin	529	ATP6V1E1	OMIM:617402
HP:0000307	Pointed chin	4212	MEIS2	ORPHA:261190
HP:0000307	Pointed chin	25886	POC1A	OMIM:614813
HP:0000307	Pointed chin	3720	JARID2	OMIM:620098
HP:0000307	Pointed chin	865	CBFB	OMIM:620099
HP:0005332	Recurrent mandibular subluxations	9509	ADAMTS2	OMIM:225410
HP:0001349	Facial diplegia	274	BIN1	ORPHA:169186
HP:0001349	Facial diplegia	10290	SPEG	ORPHA:169186
HP:0001349	Facial diplegia	6261	RYR1	ORPHA:169186
HP:0001349	Facial diplegia	6261	RYR1	ORPHA:98905
HP:0001349	Facial diplegia	7273	TTN	ORPHA:169186
HP:0001349	Facial diplegia	291	SLC25A4	ORPHA:254892
HP:0001349	Facial diplegia	5428	POLG	ORPHA:254892
HP:0001349	Facial diplegia	56652	TWNK	ORPHA:254892
HP:0001349	Facial diplegia	11232	POLG2	ORPHA:254892
HP:0001349	Facial diplegia	50484	RRM2B	ORPHA:254892
HP:0001349	Facial diplegia	4359	MPZ	OMIM:618184
HP:0001349	Facial diplegia	91574	MTRFR	ORPHA:254930
HP:0001349	Facial diplegia	91574	MTRFR	OMIM:613559
HP:0001349	Facial diplegia	8506	CNTNAP1	OMIM:618186
HP:0001349	Facial diplegia	8506	CNTNAP1	OMIM:616286
HP:0001349	Facial diplegia	112	ADCY6	OMIM:616287
HP:0001349	Facial diplegia	7170	TPM3	OMIM:609284
HP:0001349	Facial diplegia	7170	TPM3	ORPHA:171439
HP:0001349	Facial diplegia	7170	TPM3	ORPHA:171433
HP:0001349	Facial diplegia	7415	VCP	ORPHA:329478
HP:0001349	Facial diplegia	7169	TPM2	OMIM:609285
HP:0001349	Facial diplegia	7169	TPM2	ORPHA:171439
HP:0001349	Facial diplegia	7169	TPM2	ORPHA:171436
HP:0001349	Facial diplegia	2733	GLE1	OMIM:611890
HP:0001349	Facial diplegia	7084	TK2	OMIM:609560
HP:0001349	Facial diplegia	1410	CRYAB	ORPHA:399058
HP:0001349	Facial diplegia	84665	MYPN	ORPHA:171439
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171439
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171436
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171433
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171430
HP:0001349	Facial diplegia	390594	KBTBD13	ORPHA:171439
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171439
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171436
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171433
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171430
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171439
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171436
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171433
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171430
HP:0001349	Facial diplegia	19	ABCA1	OMIM:205400
HP:0001349	Facial diplegia	19	ABCA1	ORPHA:31150
HP:0001349	Facial diplegia	113278	SLC52A3	OMIM:211500
HP:0001349	Facial diplegia	9997	SCO2	ORPHA:521411
HP:0001349	Facial diplegia	9289	ADGRG1	ORPHA:98889
HP:0001349	Facial diplegia	5297	PI4KA	ORPHA:98889
HP:0001349	Facial diplegia	27286	SRPX2	ORPHA:98889
HP:0001349	Facial diplegia	56203	LMOD3	ORPHA:171436
HP:0001349	Facial diplegia	56203	LMOD3	ORPHA:171430
HP:0001349	Facial diplegia	1073	CFL2	ORPHA:171436
HP:0001349	Facial diplegia	8803	SUCLA2	OMIM:612073
HP:0001349	Facial diplegia	6472	SHMT2	OMIM:619121
HP:0001349	Facial diplegia	131377	KLHL40	ORPHA:171430
HP:0001349	Facial diplegia	10730	YME1L1	OMIM:617302
HP:0001349	Facial diplegia	79147	FKRP	ORPHA:370980
HP:0001349	Facial diplegia	2218	FKTN	ORPHA:370980
HP:0001349	Facial diplegia	729920	CRPPA	ORPHA:370980
HP:0001349	Facial diplegia	10585	POMT1	ORPHA:370980
HP:0001349	Facial diplegia	1760	DMPK	OMIM:160900
HP:0001349	Facial diplegia	9990	SLC12A6	OMIM:218000
HP:0001349	Facial diplegia	50964	SOST	OMIM:122860
HP:0001349	Facial diplegia	84570	COL25A1	ORPHA:91411
HP:0001349	Facial diplegia	79776	ZFHX4	ORPHA:91411
HP:0005335	Sleepy facial expression	5376	PMP22	ORPHA:98916
HP:0005335	Sleepy facial expression	1785	DNM2	OMIM:160150
HP:0005335	Sleepy facial expression	64419	MTMR14	OMIM:160150
HP:0005336	Forehead hyperpigmentation	10484	SEC23A	OMIM:607812
HP:0005340	Spastic/hyperactive bladder	5354	PLP1	ORPHA:99015
HP:0005340	Spastic/hyperactive bladder	55157	DARS2	ORPHA:137898
HP:0005340	Spastic/hyperactive bladder	2629	GBA1	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	23317	DNAJC13	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	1981	EIF4G1	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	55737	VPS35	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	120892	LRRK2	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	26058	GIGYF2	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	6622	SNCA	ORPHA:411602
HP:0005340	Spastic/hyperactive bladder	3798	KIF5A	ORPHA:100991
HP:0005340	Spastic/hyperactive bladder	9860	LRIG2	OMIM:615112
HP:0005341	Autonomic bladder dysfunction	27235	COQ2	ORPHA:227510
HP:0005341	Autonomic bladder dysfunction	27235	COQ2	ORPHA:98933
HP:0005341	Autonomic bladder dysfunction	4001	LMNB1	OMIM:169500
HP:0005341	Autonomic bladder dysfunction	4001	LMNB1	ORPHA:99027
HP:0005341	Autonomic bladder dysfunction	11128	POLR3A	ORPHA:447896
HP:0005343	Hypoplasia of the bladder	51360	MBTPS2	ORPHA:85284
HP:0005343	Hypoplasia of the bladder	23426	GRIP1	OMIM:617667
HP:0005343	Hypoplasia of the bladder	9968	MED12	OMIM:301068
HP:0005343	Hypoplasia of the bladder	92002	CCNQ	OMIM:300707
HP:0005343	Hypoplasia of the bladder	79796	ALG9	ORPHA:79328
HP:0005343	Hypoplasia of the bladder	54361	WNT4	ORPHA:139466
HP:0005343	Hypoplasia of the bladder	54361	WNT4	OMIM:611812
HP:0005343	Hypoplasia of the bladder	54903	MKS1	OMIM:249000
HP:0005344	Abnormal carotid artery morphology	4010	LMX1B	ORPHA:2614
HP:0005344	Abnormal carotid artery morphology	3198	HOXA1	OMIM:601536
HP:0005344	Abnormal carotid artery morphology	7703	PCGF2	OMIM:618371
HP:0005344	Abnormal carotid artery morphology	1289	COL5A1	OMIM:619329
HP:0005344	Abnormal carotid artery morphology	538	ATP7A	OMIM:304150
HP:0005344	Abnormal carotid artery morphology	10526	IPO8	OMIM:619472
HP:0005344	Abnormal carotid artery morphology	6804	STX1A	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	7461	CLIP2	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	84277	DNAJC30	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	8468	FKBP6	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	5982	RFC2	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	2969	GTF2I	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	3984	LIMK1	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	9569	GTF2IRD1	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	155382	VPS37D	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	155368	METTL27	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	114049	BUD23	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	7458	EIF4H	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	84163	GTF2IRD2	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	9275	BCL7B	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	26608	TBL2	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	653361	NCF1	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	135886	TMEM270	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	51085	MLXIPL	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	9031	BAZ1B	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	2006	ELN	ORPHA:904
HP:0005344	Abnormal carotid artery morphology	81031	SLC2A10	ORPHA:3342
HP:0005344	Abnormal carotid artery morphology	672	BRCA1	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	10459	MAD2L2	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	7516	XRCC2	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	29089	UBE2T	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	675	BRCA2	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	55120	FANCL	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2177	FANCD2	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2175	FANCA	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2187	FANCB	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2176	FANCC	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2178	FANCE	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2188	FANCF	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2189	FANCG	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	5888	RAD51	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	5889	RAD51C	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	55159	RFWD3	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	83990	BRIP1	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	57697	FANCM	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	79728	PALB2	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	84464	SLX4	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	2072	ERCC4	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	55215	FANCI	ORPHA:84
HP:0005344	Abnormal carotid artery morphology	4087	SMAD2	OMIM:619656
HP:0005344	Abnormal carotid artery morphology	55901	THSD1	OMIM:618734
HP:0005344	Abnormal carotid artery morphology	51473	DCDC2	ORPHA:84081
HP:0005344	Abnormal carotid artery morphology	91147	TMEM67	ORPHA:84081
HP:0005344	Abnormal carotid artery morphology	7048	TGFBR2	OMIM:610168
HP:0005344	Abnormal carotid artery morphology	7048	TGFBR2	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	6772	STAT1	ORPHA:391487
HP:0005344	Abnormal carotid artery morphology	10043	TOM1	ORPHA:391487
HP:0005344	Abnormal carotid artery morphology	7046	TGFBR1	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4015	LOX	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	7043	TGFB3	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4088	SMAD3	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	7042	TGFB2	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4089	SMAD4	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	2200	FBN1	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	5592	PRKG1	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	2301	FOXE3	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4144	MAT2A	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	23493	HEY2	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	8076	MFAP5	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4638	MYLK	ORPHA:91387
HP:0005344	Abnormal carotid artery morphology	4000	LMNA	ORPHA:740
HP:0005344	Abnormal carotid artery morphology	10269	ZMPSTE24	ORPHA:740
HP:0005344	Abnormal carotid artery morphology	1281	COL3A1	OMIM:130050
HP:0005344	Abnormal carotid artery morphology	137814	NKX2-6	ORPHA:3384
HP:0005344	Abnormal carotid artery morphology	23129	PLXND1	ORPHA:3384
HP:0005344	Abnormal carotid artery morphology	59	ACTA2	OMIM:613834
HP:0005344	Abnormal carotid artery morphology	55249	YY1AP1	OMIM:602531
HP:0005344	Abnormal carotid artery morphology	5654	HTRA1	OMIM:600142
HP:0005344	Abnormal carotid artery morphology	4629	MYH11	OMIM:132900
HP:0005344	Abnormal carotid artery morphology	165	AEBP1	ORPHA:536532
HP:0005344	Abnormal carotid artery morphology	165	AEBP1	OMIM:618000
HP:0005344	Abnormal carotid artery morphology	19	ABCA1	ORPHA:31150
HP:0005344	Abnormal carotid artery morphology	6392	SDHD	OMIM:168000
HP:0005344	Abnormal carotid artery morphology	6651	SON	ORPHA:500150
HP:0005344	Abnormal carotid artery morphology	3949	LDLR	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	255738	PCSK9	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	338	APOB	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	64240	ABCG5	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	64241	ABCG8	ORPHA:391665
HP:0005344	Abnormal carotid artery morphology	54820	NDE1	ORPHA:2177
HP:0005344	Abnormal carotid artery morphology	4763	NF1	ORPHA:97685
HP:0005345	Abnormal vena cava morphology	128	ADH5	OMIM:619151
HP:0005345	Abnormal vena cava morphology	2294	FOXF1	OMIM:265380
HP:0005345	Abnormal vena cava morphology	7490	WT1	OMIM:608978
HP:0005345	Abnormal vena cava morphology	137814	NKX2-6	ORPHA:3384
HP:0005345	Abnormal vena cava morphology	23129	PLXND1	ORPHA:3384
HP:0005345	Abnormal vena cava morphology	1387	CREBBP	OMIM:180849
HP:0005345	Abnormal vena cava morphology	2033	EP300	OMIM:180849
HP:0005345	Abnormal vena cava morphology	54916	TMEM260	OMIM:617478
HP:0005345	Abnormal vena cava morphology	25981	DNAH1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	115948	ODAD3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54768	HYDIN	ORPHA:244
HP:0005345	Abnormal vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	27148	STK36	ORPHA:244
HP:0005345	Abnormal vena cava morphology	51314	NME8	ORPHA:244
HP:0005345	Abnormal vena cava morphology	92749	DRC1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54970	TTC12	ORPHA:244
HP:0005345	Abnormal vena cava morphology	152110	NEK10	ORPHA:244
HP:0005345	Abnormal vena cava morphology	8481	OFD1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	221421	RSPH9	ORPHA:244
HP:0005345	Abnormal vena cava morphology	85478	CCDC65	ORPHA:244
HP:0005345	Abnormal vena cava morphology	55036	CCDC40	ORPHA:244
HP:0005345	Abnormal vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0005345	Abnormal vena cava morphology	64446	DNAI2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	6674	SPAG1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83544	DNAL1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	89765	RSPH1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83538	ODAD4	ORPHA:244
HP:0005345	Abnormal vena cava morphology	200373	CFAP221	ORPHA:244
HP:0005345	Abnormal vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0005345	Abnormal vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0005345	Abnormal vena cava morphology	2622	GAS8	ORPHA:244
HP:0005345	Abnormal vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0005345	Abnormal vena cava morphology	27019	DNAI1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0005345	Abnormal vena cava morphology	6103	RPGR	ORPHA:244
HP:0005345	Abnormal vena cava morphology	388389	CCDC103	ORPHA:244
HP:0005345	Abnormal vena cava morphology	93233	ODAD1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	93233	ODAD1	OMIM:615067
HP:0005345	Abnormal vena cava morphology	55130	ODAD2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	1767	DNAH5	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83861	RSPH3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0005345	Abnormal vena cava morphology	56683	CFAP298	ORPHA:244
HP:0005345	Abnormal vena cava morphology	79925	SPEF2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	10309	CCNO	ORPHA:244
HP:0005345	Abnormal vena cava morphology	115399	LRRC56	ORPHA:244
HP:0005345	Abnormal vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0005345	Abnormal vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	85016	CFAP300	ORPHA:244
HP:0005345	Abnormal vena cava morphology	339829	CCDC39	ORPHA:244
HP:0005345	Abnormal vena cava morphology	8701	DNAH11	ORPHA:244
HP:0005345	Abnormal vena cava morphology	1770	DNAH9	ORPHA:244
HP:0005345	Abnormal vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	10743	RAI1	ORPHA:477817
HP:0005345	Abnormal vena cava morphology	10847	SRCAP	OMIM:136140
HP:0005345	Abnormal vena cava morphology	10847	SRCAP	ORPHA:2044
HP:0005345	Abnormal vena cava morphology	2187	FANCB	OMIM:314390
HP:0005345	Abnormal vena cava morphology	7547	ZIC3	OMIM:314390
HP:0005345	Abnormal vena cava morphology	55181	SMG8	OMIM:619268
HP:0005345	Abnormal vena cava morphology	374879	ZNF699	OMIM:619488
HP:0005345	Abnormal vena cava morphology	7386	UQCRFS1	OMIM:618775
HP:0005345	Abnormal vena cava morphology	1822	ATN1	OMIM:618494
HP:0005345	Abnormal vena cava morphology	4281	MID1	ORPHA:2745
HP:0005345	Abnormal vena cava morphology	2783	GNB2	OMIM:619503
HP:0005345	Abnormal vena cava morphology	1161	ERCC8	OMIM:216400
HP:0005345	Abnormal vena cava morphology	8241	RBM10	ORPHA:2886
HP:0005345	Abnormal vena cava morphology	7319	UBE2A	ORPHA:163956
HP:0005345	Abnormal vena cava morphology	10283	CWC27	ORPHA:166035
HP:0005345	Abnormal vena cava morphology	54892	NCAPG2	OMIM:618460
HP:0005345	Abnormal vena cava morphology	4087	SMAD2	OMIM:619657
HP:0005345	Abnormal vena cava morphology	8772	FADD	OMIM:613759
HP:0005345	Abnormal vena cava morphology	55315	SLC29A3	OMIM:602782
HP:0005345	Abnormal vena cava morphology	81857	MED25	ORPHA:464738
HP:0005345	Abnormal vena cava morphology	100128908	CIROP	OMIM:619702
HP:0005345	Abnormal vena cava morphology	5567	PRKACB	OMIM:619143
HP:0005345	Abnormal vena cava morphology	51780	KDM3B	OMIM:618846
HP:0005345	Abnormal vena cava morphology	64093	SMOC1	OMIM:206920
HP:0005345	Abnormal vena cava morphology	118856	MMP21	OMIM:616749
HP:0005345	Abnormal vena cava morphology	5580	PRKCD	OMIM:615559
HP:0005345	Abnormal vena cava morphology	8314	BAP1	ORPHA:50251
HP:0005345	Abnormal vena cava morphology	93	ACVR2B	OMIM:613751
HP:0005345	Abnormal vena cava morphology	10128	LRPPRC	OMIM:220111
HP:0005345	Abnormal vena cava morphology	55997	CFC1	OMIM:605376
HP:0005346	Abnormal facial expression	2737	GLI3	ORPHA:672
HP:0005346	Abnormal facial expression	724066	ATXN8	ORPHA:98760
HP:0005346	Abnormal facial expression	5138	PDE2A	OMIM:619150
HP:0005346	Abnormal facial expression	57459	GATAD2B	ORPHA:363686
HP:0005346	Abnormal facial expression	25953	PNKD	OMIM:118800
HP:0005346	Abnormal facial expression	9860	LRIG2	OMIM:615112
HP:0005346	Abnormal facial expression	1387	CREBBP	OMIM:180849
HP:0005346	Abnormal facial expression	1387	CREBBP	ORPHA:353277
HP:0005346	Abnormal facial expression	2033	EP300	OMIM:180849
HP:0005346	Abnormal facial expression	2033	EP300	ORPHA:353284
HP:0005346	Abnormal facial expression	1356	CP	ORPHA:48818
HP:0005346	Abnormal facial expression	501	ALDH7A1	ORPHA:3006
HP:0005346	Abnormal facial expression	11212	PLPBP	ORPHA:3006
HP:0005346	Abnormal facial expression	7337	UBE3A	ORPHA:238446
HP:0005346	Abnormal facial expression	2218	FKTN	ORPHA:272
HP:0005346	Abnormal facial expression	2218	FKTN	OMIM:236670
HP:0005346	Abnormal facial expression	3763	KCNJ6	ORPHA:435628
HP:0005346	Abnormal facial expression	79876	UBA5	OMIM:617132
HP:0005346	Abnormal facial expression	10159	ATP6AP2	ORPHA:363654
HP:0005346	Abnormal facial expression	8106	PABPN1	ORPHA:270
HP:0005346	Abnormal facial expression	8106	PABPN1	OMIM:164300
HP:0005346	Abnormal facial expression	4361	MRE11	ORPHA:251347
HP:0005346	Abnormal facial expression	22947	DUX4L1	ORPHA:269
HP:0005346	Abnormal facial expression	1789	DNMT3B	ORPHA:269
HP:0005346	Abnormal facial expression	2483	FRG1	ORPHA:269
HP:0005346	Abnormal facial expression	23347	SMCHD1	ORPHA:269
HP:0005346	Abnormal facial expression	100288687	DUX4	ORPHA:269
HP:0005346	Abnormal facial expression	7084	TK2	ORPHA:254886
HP:0005346	Abnormal facial expression	5428	POLG	ORPHA:254886
HP:0005346	Abnormal facial expression	5621	PRNP	ORPHA:157941
HP:0005346	Abnormal facial expression	51506	UFC1	OMIM:618076
HP:0005346	Abnormal facial expression	79152	FA2H	ORPHA:171629
HP:0005346	Abnormal facial expression	8085	KMT2D	ORPHA:2322
HP:0005346	Abnormal facial expression	7403	KDM6A	ORPHA:2322
HP:0005346	Abnormal facial expression	5610	EIF2AK2	OMIM:618877
HP:0005346	Abnormal facial expression	22954	TRIM32	ORPHA:1878
HP:0005346	Abnormal facial expression	29954	POMT2	OMIM:236670
HP:0005346	Abnormal facial expression	9215	LARGE1	OMIM:236670
HP:0005346	Abnormal facial expression	79147	FKRP	OMIM:236670
HP:0005346	Abnormal facial expression	10585	POMT1	OMIM:236670
HP:0005346	Abnormal facial expression	7054	TH	OMIM:605407
HP:0005346	Abnormal facial expression	5980	REV3L	ORPHA:570
HP:0005346	Abnormal facial expression	23129	PLXND1	ORPHA:570
HP:0005346	Abnormal facial expression	4621	MYH3	OMIM:193700
HP:0005346	Abnormal facial expression	5080	PAX6	ORPHA:1065
HP:0005346	Abnormal facial expression	3708	ITPR1	ORPHA:1065
HP:0005346	Abnormal facial expression	6575	SLC20A2	OMIM:213600
HP:0005346	Abnormal facial expression	5155	PDGFB	OMIM:213600
HP:0005346	Abnormal facial expression	5159	PDGFRB	OMIM:213600
HP:0005346	Abnormal facial expression	3339	HSPG2	OMIM:255800
HP:0005346	Abnormal facial expression	3339	HSPG2	ORPHA:800
HP:0005346	Abnormal facial expression	23400	ATP13A2	OMIM:606693
HP:0005346	Abnormal facial expression	538	ATP7A	ORPHA:565
HP:0005346	Abnormal facial expression	2332	FMR1	OMIM:300623
HP:0005346	Abnormal facial expression	54101	RIPK4	OMIM:263650
HP:0005346	Abnormal facial expression	80025	PANK2	ORPHA:216866
HP:0005346	Abnormal facial expression	523	ATP6V1A	OMIM:617403
HP:0005346	Abnormal facial expression	2747	GLUD2	OMIM:168600
HP:0005346	Abnormal facial expression	126	ADH1C	OMIM:168600
HP:0005346	Abnormal facial expression	4137	MAPT	OMIM:168600
HP:0005346	Abnormal facial expression	2629	GBA1	OMIM:168600
HP:0005346	Abnormal facial expression	4929	NR4A2	OMIM:168600
HP:0005346	Abnormal facial expression	6908	TBP	OMIM:168600
HP:0005346	Abnormal facial expression	4576	MT-TT	OMIM:168600
HP:0005346	Abnormal facial expression	9627	SNCAIP	OMIM:168600
HP:0005346	Abnormal facial expression	6311	ATXN2	OMIM:168600
HP:0005346	Abnormal facial expression	6315	ATXN8OS	OMIM:168600
HP:0005346	Abnormal facial expression	1639	DCTN1	OMIM:168605
HP:0005346	Abnormal facial expression	291	SLC25A4	ORPHA:254892
HP:0005346	Abnormal facial expression	56652	TWNK	ORPHA:254892
HP:0005346	Abnormal facial expression	11232	POLG2	ORPHA:254892
HP:0005346	Abnormal facial expression	50484	RRM2B	ORPHA:254892
HP:0005346	Abnormal facial expression	2512	FTL	OMIM:606159
HP:0005346	Abnormal facial expression	2512	FTL	ORPHA:157846
HP:0005346	Abnormal facial expression	8398	PLA2G6	ORPHA:199351
HP:0005346	Abnormal facial expression	8398	PLA2G6	OMIM:612953
HP:0005346	Abnormal facial expression	9895	TECPR2	ORPHA:320385
HP:0005346	Abnormal facial expression	9895	TECPR2	OMIM:615031
HP:0005346	Abnormal facial expression	6571	SLC18A2	OMIM:618049
HP:0005346	Abnormal facial expression	6571	SLC18A2	ORPHA:352649
HP:0005346	Abnormal facial expression	8506	CNTNAP1	OMIM:618186
HP:0005346	Abnormal facial expression	23516	SLC39A14	OMIM:617013
HP:0005346	Abnormal facial expression	23516	SLC39A14	ORPHA:521406
HP:0005346	Abnormal facial expression	23259	DDHD2	OMIM:615033
HP:0005346	Abnormal facial expression	55532	SLC30A10	ORPHA:309854
HP:0005346	Abnormal facial expression	58494	JAM2	OMIM:618824
HP:0005346	Abnormal facial expression	1213	CLTC	OMIM:617854
HP:0005346	Abnormal facial expression	6531	SLC6A3	OMIM:613135
HP:0005346	Abnormal facial expression	6531	SLC6A3	ORPHA:238455
HP:0005346	Abnormal facial expression	23317	DNAJC13	ORPHA:411602
HP:0005346	Abnormal facial expression	1981	EIF4G1	ORPHA:411602
HP:0005346	Abnormal facial expression	55737	VPS35	ORPHA:411602
HP:0005346	Abnormal facial expression	120892	LRRK2	ORPHA:411602
HP:0005346	Abnormal facial expression	26058	GIGYF2	ORPHA:411602
HP:0005346	Abnormal facial expression	6622	SNCA	ORPHA:411602
HP:0005346	Abnormal facial expression	6622	SNCA	ORPHA:171695
HP:0005346	Abnormal facial expression	6697	SPR	ORPHA:70594
HP:0005346	Abnormal facial expression	478	ATP1A3	OMIM:128235
HP:0005346	Abnormal facial expression	478	ATP1A3	ORPHA:71517
HP:0005346	Abnormal facial expression	10907	TXNL4A	OMIM:608572
HP:0005346	Abnormal facial expression	9829	DNAJC6	ORPHA:391411
HP:0005346	Abnormal facial expression	9829	DNAJC6	OMIM:615528
HP:0005346	Abnormal facial expression	5420	PODXL	ORPHA:391411
HP:0005346	Abnormal facial expression	8867	SYNJ1	ORPHA:391411
HP:0005346	Abnormal facial expression	10935	PRDX3	OMIM:619862
HP:0005346	Abnormal facial expression	101929726	MYMX	OMIM:619941
HP:0005346	Abnormal facial expression	25793	FBXO7	ORPHA:171695
HP:0005346	Abnormal facial expression	25793	FBXO7	OMIM:260300
HP:0005346	Abnormal facial expression	51305	KCNK9	ORPHA:166108
HP:0005346	Abnormal facial expression	55753	OGDHL	OMIM:619701
HP:0005346	Abnormal facial expression	9373	PLAA	OMIM:617527
HP:0005346	Abnormal facial expression	54862	CC2D1A	OMIM:608443
HP:0005346	Abnormal facial expression	6535	SLC6A8	OMIM:300352
HP:0005346	Abnormal facial expression	253738	EBF3	OMIM:617330
HP:0005346	Abnormal facial expression	23312	DMXL2	OMIM:618663
HP:0005346	Abnormal facial expression	30000	TNPO2	OMIM:619556
HP:0005346	Abnormal facial expression	4625	MYH7	ORPHA:437572
HP:0005346	Abnormal facial expression	4625	MYH7	OMIM:255160
HP:0005346	Abnormal facial expression	29925	GMPPB	OMIM:615351
HP:0005346	Abnormal facial expression	79912	PYROXD1	OMIM:617258
HP:0005346	Abnormal facial expression	8818	DPM2	ORPHA:329178
HP:0005346	Abnormal facial expression	8818	DPM2	OMIM:615042
HP:0005346	Abnormal facial expression	3211	HOXB1	OMIM:614744
HP:0005346	Abnormal facial expression	4703	NEB	OMIM:256030
HP:0005346	Abnormal facial expression	4703	NEB	ORPHA:171433
HP:0005346	Abnormal facial expression	58	ACTA1	OMIM:161800
HP:0005346	Abnormal facial expression	58	ACTA1	ORPHA:171433
HP:0005346	Abnormal facial expression	58	ACTA1	ORPHA:2020
HP:0005346	Abnormal facial expression	246329	STAC3	ORPHA:168572
HP:0005346	Abnormal facial expression	246329	STAC3	OMIM:255995
HP:0005346	Abnormal facial expression	5293	PIK3CD	ORPHA:221139
HP:0005346	Abnormal facial expression	90417	KNSTRN	ORPHA:221139
HP:0005346	Abnormal facial expression	10324	KLHL41	ORPHA:171433
HP:0005346	Abnormal facial expression	7170	TPM3	ORPHA:171433
HP:0005346	Abnormal facial expression	7170	TPM3	ORPHA:2020
HP:0005346	Abnormal facial expression	6536	SLC6A9	OMIM:617301
HP:0005346	Abnormal facial expression	63895	PIEZO2	OMIM:617146
HP:0005346	Abnormal facial expression	84340	GFM2	OMIM:618397
HP:0005346	Abnormal facial expression	84340	GFM2	ORPHA:565624
HP:0005346	Abnormal facial expression	6901	TAFAZZIN	OMIM:302060
HP:0005346	Abnormal facial expression	51244	CCDC174	OMIM:616816
HP:0005346	Abnormal facial expression	3908	LAMA2	ORPHA:258
HP:0005346	Abnormal facial expression	3756	KCNH1	ORPHA:420561
HP:0005346	Abnormal facial expression	3756	KCNH1	OMIM:611816
HP:0005346	Abnormal facial expression	84679	SLC9A7	OMIM:301024
HP:0005346	Abnormal facial expression	51651	PTRH2	OMIM:616263
HP:0005346	Abnormal facial expression	6843	VAMP1	OMIM:618323
HP:0005346	Abnormal facial expression	55154	MSTO1	OMIM:617675
HP:0005346	Abnormal facial expression	6261	RYR1	OMIM:255320
HP:0005346	Abnormal facial expression	6261	RYR1	ORPHA:98905
HP:0005346	Abnormal facial expression	6261	RYR1	ORPHA:324581
HP:0005346	Abnormal facial expression	6261	RYR1	ORPHA:424107
HP:0005346	Abnormal facial expression	6261	RYR1	OMIM:619542
HP:0005346	Abnormal facial expression	7169	TPM2	OMIM:609285
HP:0005346	Abnormal facial expression	7169	TPM2	ORPHA:2020
HP:0005346	Abnormal facial expression	2733	GLE1	OMIM:611890
HP:0005346	Abnormal facial expression	64919	BCL11B	OMIM:617237
HP:0005346	Abnormal facial expression	64919	BCL11B	OMIM:618092
HP:0005346	Abnormal facial expression	7317	UBA1	ORPHA:1145
HP:0005346	Abnormal facial expression	7317	UBA1	OMIM:301830
HP:0005346	Abnormal facial expression	55681	SCYL2	ORPHA:1143
HP:0005346	Abnormal facial expression	84570	COL25A1	ORPHA:1143
HP:0005346	Abnormal facial expression	57222	ERGIC1	ORPHA:1143
HP:0005346	Abnormal facial expression	29967	LRP12	OMIM:164310
HP:0005346	Abnormal facial expression	9570	GOSR2	OMIM:620166
HP:0005346	Abnormal facial expression	57731	SPTBN4	OMIM:617519
HP:0005346	Abnormal facial expression	4620	MYH2	OMIM:605637
HP:0005346	Abnormal facial expression	6567	SLC16A2	ORPHA:59
HP:0005346	Abnormal facial expression	10087	CERT1	OMIM:616351
HP:0005346	Abnormal facial expression	57190	SELENON	ORPHA:2020
HP:0005346	Abnormal facial expression	4633	MYL2	ORPHA:2020
HP:0005346	Abnormal facial expression	3679	ITGA7	ORPHA:2020
HP:0005346	Abnormal facial expression	9200	HACD1	ORPHA:2020
HP:0005346	Abnormal facial expression	51776	MAP3K20	ORPHA:2020
HP:0005346	Abnormal facial expression	27072	VPS41	OMIM:619389
HP:0005346	Abnormal facial expression	5813	PURA	ORPHA:438216
HP:0005346	Abnormal facial expression	5813	PURA	OMIM:616158
HP:0005346	Abnormal facial expression	4632	MYL1	OMIM:618414
HP:0005346	Abnormal facial expression	128989	TANGO2	OMIM:616878
HP:0005346	Abnormal facial expression	6443	SGCB	ORPHA:119
HP:0005346	Abnormal facial expression	113278	SLC52A3	OMIM:211530
HP:0005346	Abnormal facial expression	10755	GIPC1	ORPHA:98897
HP:0005346	Abnormal facial expression	100996717	NOTCH2NLC	ORPHA:98897
HP:0005346	Abnormal facial expression	388015	RTL1	ORPHA:254531
HP:0005346	Abnormal facial expression	8788	DLK1	ORPHA:254531
HP:0005346	Abnormal facial expression	55384	MEG3	ORPHA:254531
HP:0005346	Abnormal facial expression	1763	DNA2	ORPHA:352470
HP:0005346	Abnormal facial expression	1763	DNA2	OMIM:615156
HP:0005346	Abnormal facial expression	80816	ASXL3	ORPHA:352577
HP:0005346	Abnormal facial expression	4487	MSX1	ORPHA:141291
HP:0005346	Abnormal facial expression	5818	NECTIN1	ORPHA:141291
HP:0005346	Abnormal facial expression	8626	TP63	ORPHA:141291
HP:0005346	Abnormal facial expression	3664	IRF6	ORPHA:141291
HP:0005346	Abnormal facial expression	4204	MECP2	OMIM:300496
HP:0005346	Abnormal facial expression	3119	HLA-DQB1	OMIM:123400
HP:0005346	Abnormal facial expression	5376	PMP22	ORPHA:98916
HP:0005346	Abnormal facial expression	1785	DNM2	OMIM:160150
HP:0005346	Abnormal facial expression	64419	MTMR14	OMIM:160150
HP:0005346	Abnormal facial expression	60495	HPSE2	OMIM:236730
HP:0005346	Abnormal facial expression	87178	PNPT1	OMIM:608703
HP:0005346	Abnormal facial expression	87178	PNPT1	ORPHA:101111
HP:0005346	Abnormal facial expression	3785	KCNQ2	ORPHA:1949
HP:0005346	Abnormal facial expression	3786	KCNQ3	ORPHA:1949
HP:0005346	Abnormal facial expression	6335	SCN9A	ORPHA:33069
HP:0005346	Abnormal facial expression	6326	SCN2A	ORPHA:33069
HP:0005346	Abnormal facial expression	2554	GABRA1	ORPHA:33069
HP:0005346	Abnormal facial expression	6323	SCN1A	ORPHA:33069
HP:0005346	Abnormal facial expression	6323	SCN1A	ORPHA:569
HP:0005346	Abnormal facial expression	6324	SCN1B	ORPHA:33069
HP:0005346	Abnormal facial expression	57526	PCDH19	ORPHA:33069
HP:0005346	Abnormal facial expression	2566	GABRG2	ORPHA:33069
HP:0005346	Abnormal facial expression	773	CACNA1A	ORPHA:569
HP:0005346	Abnormal facial expression	112476	PRRT2	ORPHA:569
HP:0005346	Abnormal facial expression	477	ATP1A2	ORPHA:569
HP:0005346	Abnormal facial expression	7276	TTR	OMIM:105210
HP:0005347	Tracheal cartilaginous sleeve	2260	FGFR1	OMIM:101600
HP:0005347	Tracheal cartilaginous sleeve	2263	FGFR2	OMIM:101600
HP:0005348	Inspiratory stridor	3835	KIF22	ORPHA:93360
HP:0005348	Inspiratory stridor	11340	EXOSC8	ORPHA:2254
HP:0005348	Inspiratory stridor	5393	EXOSC9	ORPHA:2254
HP:0005348	Inspiratory stridor	23287	AGTPBP1	ORPHA:2254
HP:0005348	Inspiratory stridor	51010	EXOSC3	ORPHA:2254
HP:0005348	Inspiratory stridor	7443	VRK1	ORPHA:2254
HP:0005348	Inspiratory stridor	91137	SLC25A46	ORPHA:2254
HP:0005348	Inspiratory stridor	5354	PLP1	OMIM:312080
HP:0005348	Inspiratory stridor	23114	NFASC	OMIM:618356
HP:0005348	Inspiratory stridor	80199	FUZ	ORPHA:1136
HP:0005348	Inspiratory stridor	406932	MIR140	OMIM:618618
HP:0005348	Inspiratory stridor	9997	SCO2	OMIM:604377
HP:0005348	Inspiratory stridor	6329	SCN4A	OMIM:168300
HP:0005348	Inspiratory stridor	728294	D2HGDH	OMIM:600721
HP:0005348	Inspiratory stridor	710	SERPING1	ORPHA:100050
HP:0005348	Inspiratory stridor	3508	IGHMBP2	OMIM:604320
HP:0005348	Inspiratory stridor	113278	SLC52A3	OMIM:211500
HP:0005349	Hypoplasia of the epiglottis	341640	FREM2	OMIM:617666
HP:0005349	Hypoplasia of the epiglottis	22858	CILK1	OMIM:612651
HP:0005349	Hypoplasia of the epiglottis	5396	PRRX1	OMIM:202650
HP:0005349	Hypoplasia of the epiglottis	2263	FGFR2	ORPHA:2363
HP:0005349	Hypoplasia of the epiglottis	2261	FGFR3	ORPHA:2363
HP:0005349	Hypoplasia of the epiglottis	2255	FGF10	ORPHA:2363
HP:0005349	Hypoplasia of the epiglottis	10262	SF3B4	OMIM:154400
HP:0005349	Hypoplasia of the epiglottis	4750	NEK1	ORPHA:2751
HP:0005349	Hypoplasia of the epiglottis	4750	NEK1	OMIM:263520
HP:0005349	Hypoplasia of the epiglottis	26040	SETBP1	ORPHA:798
HP:0005349	Hypoplasia of the epiglottis	2737	GLI3	OMIM:146510
HP:0031205	Reduced lysosomal acid lipase activity	3988	LIPA	OMIM:278000
HP:0031206	Striatal T2 hyperintensity	10846	PDE10A	ORPHA:494541
HP:0031206	Striatal T2 hyperintensity	51102	MECR	ORPHA:508093
HP:0031207	Hepatic hemangioma	1387	CREBBP	OMIM:180849
HP:0031207	Hepatic hemangioma	2033	EP300	OMIM:180849
HP:0031207	Hepatic hemangioma	595	CCND1	OMIM:193300
HP:0031207	Hepatic hemangioma	7428	VHL	OMIM:193300
HP:0031208	Increased pituitary glycoprotein hormone alpha subunit level	7252	TSHB	ORPHA:90674
HP:0031209	Decreased circulating lipoprotein lipase concentration	23019	CNOT1	ORPHA:556955
HP:0100301	Muscle fiber tubular inclusions	1798	DPAGT1	OMIM:614750
HP:0100301	Muscle fiber tubular inclusions	1798	DPAGT1	ORPHA:353327
HP:0100301	Muscle fiber tubular inclusions	85365	ALG2	OMIM:616228
HP:0100301	Muscle fiber tubular inclusions	85365	ALG2	ORPHA:353327
HP:0100301	Muscle fiber tubular inclusions	844	CASQ1	ORPHA:2593
HP:0100301	Muscle fiber tubular inclusions	84876	ORAI1	ORPHA:2593
HP:0100301	Muscle fiber tubular inclusions	6786	STIM1	ORPHA:2593
HP:0100301	Muscle fiber tubular inclusions	29925	GMPPB	ORPHA:353327
HP:0100301	Muscle fiber tubular inclusions	2673	GFPT1	ORPHA:353327
HP:0100301	Muscle fiber tubular inclusions	199857	ALG14	ORPHA:353327
HP:0100307	Cerebellar hemisphere hypoplasia	3912	LAMB1	OMIM:615191
HP:0100307	Cerebellar hemisphere hypoplasia	23499	MACF1	OMIM:618325
HP:0100307	Cerebellar hemisphere hypoplasia	51651	PTRH2	ORPHA:456312
HP:0100307	Cerebellar hemisphere hypoplasia	63925	ZNF335	OMIM:615095
HP:0100307	Cerebellar hemisphere hypoplasia	79042	TSEN34	OMIM:612390
HP:0100307	Cerebellar hemisphere hypoplasia	11041	B4GAT1	OMIM:615287
HP:0100307	Cerebellar hemisphere hypoplasia	6651	SON	ORPHA:500150
HP:0100307	Cerebellar hemisphere hypoplasia	59336	PRDM13	OMIM:619909
HP:0100308	Cerebral cortical hemiatrophy	4644	MYO5A	ORPHA:33445
HP:0100308	Cerebral cortical hemiatrophy	51360	MBTPS2	ORPHA:2273
HP:0100308	Cerebral cortical hemiatrophy	79813	EHMT1	ORPHA:96147
HP:0100308	Cerebral cortical hemiatrophy	26123	TCTN3	ORPHA:2753
HP:0100308	Cerebral cortical hemiatrophy	71	ACTG1	ORPHA:2995
HP:0100308	Cerebral cortical hemiatrophy	60	ACTB	ORPHA:2995
HP:0100306	Muscle fiber hyaline bodies	4625	MYH7	OMIM:255160
HP:0100309	Subdural hemorrhage	23299	BICD2	OMIM:618291
HP:0100309	Subdural hemorrhage	2639	GCDH	ORPHA:25
HP:0100309	Subdural hemorrhage	3674	ITGA2B	OMIM:273800
HP:0100309	Subdural hemorrhage	2243	FGA	OMIM:202400
HP:0100309	Subdural hemorrhage	2244	FGB	OMIM:202400
HP:0100309	Subdural hemorrhage	2266	FGG	OMIM:202400
HP:0100309	Subdural hemorrhage	2157	F8	ORPHA:169805
HP:0100309	Subdural hemorrhage	2157	F8	ORPHA:169802
HP:0100309	Subdural hemorrhage	1785	DNM2	OMIM:615368
HP:0100309	Subdural hemorrhage	1161	ERCC8	ORPHA:90324
HP:0100309	Subdural hemorrhage	2074	ERCC6	ORPHA:90324
HP:0100309	Subdural hemorrhage	25974	MMACHC	ORPHA:79282
HP:0100309	Subdural hemorrhage	3703	STT3A	OMIM:619714
HP:0100309	Subdural hemorrhage	8241	RBM10	OMIM:311900
HP:0005359	Aplasia of the thymus	100	ADA	OMIM:102700
HP:0005359	Aplasia of the thymus	6909	TBX2	OMIM:618223
HP:0005359	Aplasia of the thymus	8085	KMT2D	OMIM:620186
HP:0005359	Aplasia of the thymus	64421	DCLRE1C	OMIM:602450
HP:0005357	Defective B cell differentiation	359948	IRF2BP2	OMIM:617765
HP:0005357	Defective B cell differentiation	472	ATM	OMIM:208900
HP:0005356	Decreased circulating complement factor I concentration	712	C1QA	OMIM:613652
HP:0005356	Decreased circulating complement factor I concentration	3426	CFI	OMIM:610984
HP:0005356	Decreased circulating complement factor I concentration	3075	CFH	OMIM:235400
HP:0005356	Decreased circulating complement factor I concentration	3078	CFHR1	OMIM:235400
HP:0005356	Decreased circulating complement factor I concentration	10878	CFHR3	OMIM:235400
HP:0005354	Lack of T cell function	100	ADA	ORPHA:277
HP:0005354	Lack of T cell function	5994	RFXAP	ORPHA:572
HP:0005354	Lack of T cell function	4261	CIITA	ORPHA:572
HP:0005354	Lack of T cell function	5993	RFX5	ORPHA:572
HP:0005354	Lack of T cell function	8625	RFXANK	ORPHA:572
HP:0005354	Lack of T cell function	3718	JAK3	ORPHA:35078
HP:0005354	Lack of T cell function	204	AK2	OMIM:267500
HP:0005353	Recurrent herpes	3561	IL2RG	ORPHA:276
HP:0005353	Recurrent herpes	641	BLM	ORPHA:125
HP:0005353	Recurrent herpes	915	CD3D	ORPHA:169160
HP:0005353	Recurrent herpes	916	CD3E	ORPHA:169160
HP:0005353	Recurrent herpes	919	CD247	ORPHA:169160
HP:0005353	Recurrent herpes	919	CD247	OMIM:610163
HP:0005353	Recurrent herpes	5994	RFXAP	ORPHA:572
HP:0005353	Recurrent herpes	4261	CIITA	ORPHA:572
HP:0005353	Recurrent herpes	5993	RFX5	ORPHA:572
HP:0005353	Recurrent herpes	8625	RFXANK	ORPHA:572
HP:0005353	Recurrent herpes	6772	STAT1	ORPHA:391487
HP:0005353	Recurrent herpes	10043	TOM1	ORPHA:391487
HP:0005353	Recurrent herpes	7454	WAS	OMIM:301000
HP:0005353	Recurrent herpes	4153	MBL2	OMIM:614372
HP:0005353	Recurrent herpes	841	CASP8	OMIM:607271
HP:0005353	Recurrent herpes	81622	UNC93B1	OMIM:610551
HP:0005353	Recurrent herpes	9138	ARHGEF1	OMIM:618459
HP:0005353	Recurrent herpes	3514	IGKC	ORPHA:183675
HP:0005353	Recurrent herpes	3501	IGHG2	ORPHA:183675
HP:0005353	Recurrent herpes	9094	UNC119	OMIM:615518
HP:0005353	Recurrent herpes	4791	NFKB2	OMIM:615577
HP:0005353	Recurrent herpes	5966	REL	OMIM:619652
HP:0005353	Recurrent herpes	2214	FCGR3A	OMIM:615707
HP:0005353	Recurrent herpes	7174	TPP2	OMIM:619220
HP:0005352	Severe T-cell immunodeficiency	50485	SMARCAL1	ORPHA:1830
HP:0005352	Severe T-cell immunodeficiency	80144	FRAS1	OMIM:219000
HP:0005352	Severe T-cell immunodeficiency	8456	FOXN1	OMIM:601705
HP:0003261	Increased circulating IgA level	355	FAS	ORPHA:3261
HP:0003261	Increased circulating IgA level	355	FAS	OMIM:601859
HP:0003261	Increased circulating IgA level	356	FASLG	ORPHA:3261
HP:0003261	Increased circulating IgA level	356	FASLG	OMIM:601859
HP:0003261	Increased circulating IgA level	5580	PRKCD	ORPHA:3261
HP:0003261	Increased circulating IgA level	843	CASP10	ORPHA:3261
HP:0003261	Increased circulating IgA level	843	CASP10	OMIM:603909
HP:0003261	Increased circulating IgA level	10125	RASGRP1	ORPHA:3261
HP:0003261	Increased circulating IgA level	10125	RASGRP1	OMIM:618534
HP:0003261	Increased circulating IgA level	7454	WAS	OMIM:301000
HP:0003261	Increased circulating IgA level	7454	WAS	OMIM:313900
HP:0003261	Increased circulating IgA level	90268	OTULIN	OMIM:617099
HP:0003261	Increased circulating IgA level	595	CCND1	ORPHA:29073
HP:0003261	Increased circulating IgA level	29775	CARD10	OMIM:619632
HP:0003261	Increased circulating IgA level	51371	POMP	OMIM:618048
HP:0003261	Increased circulating IgA level	8517	IKBKG	OMIM:300636
HP:0003261	Increased circulating IgA level	8517	IKBKG	OMIM:300291
HP:0003261	Increased circulating IgA level	919	CD247	OMIM:610163
HP:0003261	Increased circulating IgA level	4598	MVK	OMIM:260920
HP:0003261	Increased circulating IgA level	4598	MVK	ORPHA:343
HP:0003261	Increased circulating IgA level	5238	PGM3	ORPHA:443811
HP:0003261	Increased circulating IgA level	340061	STING1	OMIM:615934
HP:0003261	Increased circulating IgA level	959	CD40LG	OMIM:308230
HP:0003261	Increased circulating IgA level	3575	IL7R	ORPHA:169154
HP:0003261	Increased circulating IgA level	3594	IL12RB1	ORPHA:186
HP:0003261	Increased circulating IgA level	23534	TNPO3	ORPHA:186
HP:0003261	Increased circulating IgA level	3592	IL12A	ORPHA:186
HP:0003261	Increased circulating IgA level	6689	SPIB	ORPHA:186
HP:0003261	Increased circulating IgA level	5450	POU2AF1	ORPHA:186
HP:0003261	Increased circulating IgA level	9966	TNFSF15	ORPHA:186
HP:0003261	Increased circulating IgA level	79258	MMEL1	ORPHA:186
HP:0003261	Increased circulating IgA level	3663	IRF5	ORPHA:186
HP:0003261	Increased circulating IgA level	404672	GTF2H5	OMIM:616395
HP:0003261	Increased circulating IgA level	22861	NLRP1	OMIM:617388
HP:0003261	Increased circulating IgA level	5696	PSMB8	OMIM:256040
HP:0031212	Abnormal circulating progesterone level	1967	EIF2B1	OMIM:603896
HP:0031212	Abnormal circulating progesterone level	5447	POR	OMIM:201750
HP:0031212	Abnormal circulating progesterone level	668	FOXL2	ORPHA:572333
HP:0031212	Abnormal circulating progesterone level	3284	HSD3B2	OMIM:201810
HP:0031212	Abnormal circulating progesterone level	3284	HSD3B2	ORPHA:90791
HP:0031212	Abnormal circulating progesterone level	1584	CYP11B1	ORPHA:90795
HP:0031212	Abnormal circulating progesterone level	1586	CYP17A1	ORPHA:90793
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	3284	HSD3B2	OMIM:201810
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	3284	HSD3B2	ORPHA:90791
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	5447	POR	OMIM:201750
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	5447	POR	ORPHA:95699
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	1584	CYP11B1	ORPHA:90795
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	56246	MRAP	ORPHA:361
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	6770	STAR	ORPHA:361
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	4158	MC2R	ORPHA:361
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	23530	NNT	ORPHA:361
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	10587	TXNRD2	ORPHA:361
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	5573	PRKAR1A	OMIM:610489
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	5447	POR	OMIM:201750
HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration	1528	CYB5A	OMIM:250790
HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration	5447	POR	ORPHA:95699
HP:0031216	Increased circulating progesterone	3284	HSD3B2	OMIM:201810
HP:0031216	Increased circulating progesterone	3284	HSD3B2	ORPHA:90791
HP:0031216	Increased circulating progesterone	5447	POR	OMIM:201750
HP:0031216	Increased circulating progesterone	5447	POR	ORPHA:95699
HP:0031216	Increased circulating progesterone	1584	CYP11B1	ORPHA:90795
HP:0031216	Increased circulating progesterone	1586	CYP17A1	ORPHA:90793
HP:0031218	Inappropriate antidiuretic hormone secretion	5626	PROP1	ORPHA:226307
HP:0031218	Inappropriate antidiuretic hormone secretion	89884	LHX4	ORPHA:226307
HP:0031218	Inappropriate antidiuretic hormone secretion	8022	LHX3	ORPHA:226307
HP:0031218	Inappropriate antidiuretic hormone secretion	5449	POU1F1	ORPHA:226307
HP:0031218	Inappropriate antidiuretic hormone secretion	8820	HESX1	ORPHA:226307
HP:0031218	Inappropriate antidiuretic hormone secretion	5498	PPOX	ORPHA:79473
HP:0031218	Inappropriate antidiuretic hormone secretion	7841	MOGS	ORPHA:79330
HP:0031218	Inappropriate antidiuretic hormone secretion	3431	SP110	ORPHA:79124
HP:0031219	Reduced radioactive iodine uptake	5626	PROP1	ORPHA:226307
HP:0031219	Reduced radioactive iodine uptake	89884	LHX4	ORPHA:226307
HP:0031219	Reduced radioactive iodine uptake	8022	LHX3	ORPHA:226307
HP:0031219	Reduced radioactive iodine uptake	5449	POU1F1	ORPHA:226307
HP:0031219	Reduced radioactive iodine uptake	8820	HESX1	ORPHA:226307
HP:0031219	Reduced radioactive iodine uptake	405753	DUOXA2	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	6528	SLC5A5	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	7038	TG	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	7173	TPO	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	389434	IYD	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	50506	DUOX2	ORPHA:95716
HP:0031219	Reduced radioactive iodine uptake	7253	TSHR	ORPHA:90673
HP:0031219	Reduced radioactive iodine uptake	7201	TRHR	ORPHA:99832
HP:0031219	Reduced radioactive iodine uptake	7252	TSHB	ORPHA:90674
HP:0100310	Epidural hemorrhage	2157	F8	ORPHA:169805
HP:0100310	Epidural hemorrhage	2157	F8	ORPHA:169802
HP:0100310	Epidural hemorrhage	5054	SERPINE1	ORPHA:465
HP:0100310	Epidural hemorrhage	2243	FGA	OMIM:202400
HP:0100310	Epidural hemorrhage	2244	FGB	OMIM:202400
HP:0100310	Epidural hemorrhage	2266	FGG	OMIM:202400
HP:0100310	Epidural hemorrhage	10526	IPO8	OMIM:619472
HP:0100314	Cerebral inclusion bodies	348	APOE	OMIM:606889
HP:0100314	Cerebral inclusion bodies	348	APOE	OMIM:607822
HP:0100314	Cerebral inclusion bodies	348	APOE	OMIM:104310
HP:0100314	Cerebral inclusion bodies	5664	PSEN2	OMIM:606889
HP:0100314	Cerebral inclusion bodies	5664	PSEN2	ORPHA:1020
HP:0100314	Cerebral inclusion bodies	5621	PRNP	OMIM:606688
HP:0100314	Cerebral inclusion bodies	5621	PRNP	OMIM:137440
HP:0100314	Cerebral inclusion bodies	10577	NPC2	OMIM:607625
HP:0100314	Cerebral inclusion bodies	9445	ITM2B	OMIM:117300
HP:0100314	Cerebral inclusion bodies	1540	CYLD	OMIM:619132
HP:0100314	Cerebral inclusion bodies	10347	ABCA7	OMIM:608907
HP:0100314	Cerebral inclusion bodies	10347	ABCA7	ORPHA:1020
HP:0100314	Cerebral inclusion bodies	10452	TOMM40	ORPHA:1020
HP:0100314	Cerebral inclusion bodies	351	APP	ORPHA:1020
HP:0100314	Cerebral inclusion bodies	351	APP	OMIM:104300
HP:0100314	Cerebral inclusion bodies	6653	SORL1	ORPHA:1020
HP:0100314	Cerebral inclusion bodies	4353	MPO	OMIM:104300
HP:0100314	Cerebral inclusion bodies	4846	NOS3	OMIM:104300
HP:0100314	Cerebral inclusion bodies	3077	HFE	OMIM:104300
HP:0100314	Cerebral inclusion bodies	5328	PLAU	OMIM:104300
HP:0100314	Cerebral inclusion bodies	4864	NPC1	OMIM:257220
HP:0100314	Cerebral inclusion bodies	3178	HNRNPA1	ORPHA:52430
HP:0100314	Cerebral inclusion bodies	3181	HNRNPA2B1	ORPHA:52430
HP:0100314	Cerebral inclusion bodies	6622	SNCA	OMIM:605543
HP:0100314	Cerebral inclusion bodies	6622	SNCA	ORPHA:171695
HP:0100314	Cerebral inclusion bodies	6622	SNCA	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	6622	SNCA	OMIM:168601
HP:0100314	Cerebral inclusion bodies	6622	SNCA	OMIM:127750
HP:0100314	Cerebral inclusion bodies	5071	PRKN	OMIM:600116
HP:0100314	Cerebral inclusion bodies	5428	POLG	OMIM:157640
HP:0100314	Cerebral inclusion bodies	25793	FBXO7	ORPHA:171695
HP:0100314	Cerebral inclusion bodies	83636	C19orf12	OMIM:614298
HP:0100314	Cerebral inclusion bodies	1981	EIF4G1	OMIM:614251
HP:0100314	Cerebral inclusion bodies	1981	EIF4G1	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	7072	TIA1	OMIM:619133
HP:0100314	Cerebral inclusion bodies	120892	LRRK2	OMIM:607060
HP:0100314	Cerebral inclusion bodies	120892	LRRK2	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	54832	VPS13C	OMIM:616840
HP:0100314	Cerebral inclusion bodies	2629	GBA1	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	2629	GBA1	OMIM:168600
HP:0100314	Cerebral inclusion bodies	2629	GBA1	OMIM:127750
HP:0100314	Cerebral inclusion bodies	23317	DNAJC13	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	55737	VPS35	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	26058	GIGYF2	ORPHA:411602
HP:0100314	Cerebral inclusion bodies	2747	GLUD2	OMIM:168600
HP:0100314	Cerebral inclusion bodies	126	ADH1C	OMIM:168600
HP:0100314	Cerebral inclusion bodies	4137	MAPT	OMIM:168600
HP:0100314	Cerebral inclusion bodies	4137	MAPT	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	4929	NR4A2	OMIM:168600
HP:0100314	Cerebral inclusion bodies	6908	TBP	OMIM:168600
HP:0100314	Cerebral inclusion bodies	4576	MT-TT	OMIM:168600
HP:0100314	Cerebral inclusion bodies	9627	SNCAIP	OMIM:168600
HP:0100314	Cerebral inclusion bodies	6311	ATXN2	OMIM:168600
HP:0100314	Cerebral inclusion bodies	6315	ATXN8OS	OMIM:168600
HP:0100314	Cerebral inclusion bodies	116442	RAB39B	OMIM:311510
HP:0100314	Cerebral inclusion bodies	8398	PLA2G6	OMIM:610217
HP:0100314	Cerebral inclusion bodies	6620	SNCB	OMIM:127750
HP:0100314	Cerebral inclusion bodies	2896	GRN	OMIM:607485
HP:0100314	Cerebral inclusion bodies	2896	GRN	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	25978	CHMP2B	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	5663	PSEN1	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	54664	TMEM106B	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	54209	TREM2	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	7415	VCP	ORPHA:100070
HP:0100314	Cerebral inclusion bodies	7957	EPM2A	OMIM:254780
HP:0100314	Cerebral inclusion bodies	7957	EPM2A	ORPHA:501
HP:0100314	Cerebral inclusion bodies	378884	NHLRC1	OMIM:254780
HP:0100314	Cerebral inclusion bodies	378884	NHLRC1	ORPHA:501
HP:0100314	Cerebral inclusion bodies	56978	PRDM8	ORPHA:324290
HP:0100314	Cerebral inclusion bodies	56978	PRDM8	OMIM:616640
HP:0100314	Cerebral inclusion bodies	727676	SNORD118	ORPHA:542310
HP:0100314	Cerebral inclusion bodies	2670	GFAP	ORPHA:363717
HP:0100315	Lewy bodies	6622	SNCA	OMIM:605543
HP:0100315	Lewy bodies	6622	SNCA	ORPHA:171695
HP:0100315	Lewy bodies	6622	SNCA	ORPHA:411602
HP:0100315	Lewy bodies	6622	SNCA	OMIM:168601
HP:0100315	Lewy bodies	6622	SNCA	OMIM:127750
HP:0100315	Lewy bodies	5071	PRKN	OMIM:600116
HP:0100315	Lewy bodies	5428	POLG	OMIM:157640
HP:0100315	Lewy bodies	25793	FBXO7	ORPHA:171695
HP:0100315	Lewy bodies	83636	C19orf12	OMIM:614298
HP:0100315	Lewy bodies	1981	EIF4G1	OMIM:614251
HP:0100315	Lewy bodies	1981	EIF4G1	ORPHA:411602
HP:0100315	Lewy bodies	7072	TIA1	OMIM:619133
HP:0100315	Lewy bodies	120892	LRRK2	OMIM:607060
HP:0100315	Lewy bodies	120892	LRRK2	ORPHA:411602
HP:0100315	Lewy bodies	54832	VPS13C	OMIM:616840
HP:0100315	Lewy bodies	2629	GBA1	ORPHA:411602
HP:0100315	Lewy bodies	2629	GBA1	OMIM:168600
HP:0100315	Lewy bodies	2629	GBA1	OMIM:127750
HP:0100315	Lewy bodies	23317	DNAJC13	ORPHA:411602
HP:0100315	Lewy bodies	55737	VPS35	ORPHA:411602
HP:0100315	Lewy bodies	26058	GIGYF2	ORPHA:411602
HP:0100315	Lewy bodies	2747	GLUD2	OMIM:168600
HP:0100315	Lewy bodies	126	ADH1C	OMIM:168600
HP:0100315	Lewy bodies	4137	MAPT	OMIM:168600
HP:0100315	Lewy bodies	4137	MAPT	ORPHA:100070
HP:0100315	Lewy bodies	4929	NR4A2	OMIM:168600
HP:0100315	Lewy bodies	6908	TBP	OMIM:168600
HP:0100315	Lewy bodies	4576	MT-TT	OMIM:168600
HP:0100315	Lewy bodies	9627	SNCAIP	OMIM:168600
HP:0100315	Lewy bodies	6311	ATXN2	OMIM:168600
HP:0100315	Lewy bodies	6315	ATXN8OS	OMIM:168600
HP:0100315	Lewy bodies	116442	RAB39B	OMIM:311510
HP:0100315	Lewy bodies	8398	PLA2G6	OMIM:610217
HP:0100315	Lewy bodies	6620	SNCB	OMIM:127750
HP:0100315	Lewy bodies	2896	GRN	OMIM:607485
HP:0100315	Lewy bodies	2896	GRN	ORPHA:100070
HP:0100315	Lewy bodies	25978	CHMP2B	ORPHA:100070
HP:0100315	Lewy bodies	5663	PSEN1	ORPHA:100070
HP:0100315	Lewy bodies	54664	TMEM106B	ORPHA:100070
HP:0100315	Lewy bodies	54209	TREM2	ORPHA:100070
HP:0100315	Lewy bodies	7415	VCP	ORPHA:100070
HP:0100318	Lafora bodies	7957	EPM2A	OMIM:254780
HP:0100318	Lafora bodies	7957	EPM2A	ORPHA:501
HP:0100318	Lafora bodies	378884	NHLRC1	OMIM:254780
HP:0100318	Lafora bodies	378884	NHLRC1	ORPHA:501
HP:0100318	Lafora bodies	56978	PRDM8	ORPHA:324290
HP:0100318	Lafora bodies	56978	PRDM8	OMIM:616640
HP:0005369	Decreased circulating complement factor H concentration	3075	CFH	OMIM:609814
HP:0005369	Decreased circulating complement factor H concentration	3075	CFH	OMIM:235400
HP:0005369	Decreased circulating complement factor H concentration	3426	CFI	OMIM:610984
HP:0005369	Decreased circulating complement factor H concentration	3078	CFHR1	OMIM:235400
HP:0005369	Decreased circulating complement factor H concentration	10878	CFHR3	OMIM:235400
HP:0005368	Abnormality of humoral immunity	83737	ITCH	OMIM:613385
HP:0005368	Abnormality of humoral immunity	3117	HLA-DQA1	OMIM:212750
HP:0005368	Abnormality of humoral immunity	3119	HLA-DQB1	OMIM:212750
HP:0005368	Abnormality of humoral immunity	2475	MTOR	ORPHA:457485
HP:0005368	Abnormality of humoral immunity	2475	MTOR	OMIM:616638
HP:0005368	Abnormality of humoral immunity	284119	CAVIN1	OMIM:613327
HP:0005368	Abnormality of humoral immunity	57511	COG6	OMIM:614576
HP:0005368	Abnormality of humoral immunity	84061	MAGT1	OMIM:300853
HP:0005368	Abnormality of humoral immunity	51604	PIGT	ORPHA:369837
HP:0005368	Abnormality of humoral immunity	5336	PLCG2	OMIM:614878
HP:0005368	Abnormality of humoral immunity	28956	LAMTOR2	OMIM:610798
HP:0005368	Abnormality of humoral immunity	23387	SIK3	OMIM:618162
HP:0005368	Abnormality of humoral immunity	5426	POLE	OMIM:615139
HP:0005368	Abnormality of humoral immunity	4683	NBN	OMIM:251260
HP:0005368	Abnormality of humoral immunity	6499	SKIC2	ORPHA:84064
HP:0005368	Abnormality of humoral immunity	833	CARS1	ORPHA:33364
HP:0005368	Abnormality of humoral immunity	136647	MPLKIP	ORPHA:33364
HP:0005368	Abnormality of humoral immunity	6897	TARS1	ORPHA:33364
HP:0005368	Abnormality of humoral immunity	2071	ERCC3	ORPHA:33364
HP:0005368	Abnormality of humoral immunity	2961	GTF2E2	ORPHA:33364
HP:0005368	Abnormality of humoral immunity	64170	CARD9	OMIM:212050
HP:0005368	Abnormality of humoral immunity	7454	WAS	OMIM:301000
HP:0005368	Abnormality of humoral immunity	7454	WAS	OMIM:313900
HP:0005368	Abnormality of humoral immunity	1041	CDSN	ORPHA:90368
HP:0005368	Abnormality of humoral immunity	1041	CDSN	OMIM:270300
HP:0005368	Abnormality of humoral immunity	121391	KRT74	ORPHA:90368
HP:0005368	Abnormality of humoral immunity	6777	STAT5B	OMIM:618985
HP:0005368	Abnormality of humoral immunity	50943	FOXP3	OMIM:304790
HP:0005368	Abnormality of humoral immunity	50943	FOXP3	ORPHA:37042
HP:0005368	Abnormality of humoral immunity	3857	KRT9	OMIM:144200
HP:0005368	Abnormality of humoral immunity	6774	STAT3	OMIM:147060
HP:0005368	Abnormality of humoral immunity	6774	STAT3	ORPHA:2314
HP:0005368	Abnormality of humoral immunity	1294	COL7A1	ORPHA:89843
HP:0005368	Abnormality of humoral immunity	7297	TYK2	OMIM:611521
HP:0005368	Abnormality of humoral immunity	51135	IRAK4	OMIM:607676
HP:0005368	Abnormality of humoral immunity	84905	ZNF341	OMIM:618282
HP:0005368	Abnormality of humoral immunity	2239	GPC4	ORPHA:373
HP:0005368	Abnormality of humoral immunity	2719	GPC3	ORPHA:373
HP:0005368	Abnormality of humoral immunity	7941	PLA2G7	OMIM:147050
HP:0005368	Abnormality of humoral immunity	50615	IL21R	OMIM:147050
HP:0005368	Abnormality of humoral immunity	3566	IL4R	OMIM:147050
HP:0005368	Abnormality of humoral immunity	2206	MS4A2	OMIM:147050
HP:0005368	Abnormality of humoral immunity	1956	EGFR	OMIM:616069
HP:0005368	Abnormality of humoral immunity	84433	CARD11	OMIM:617638
HP:0005368	Abnormality of humoral immunity	6868	ADAM17	OMIM:614328
HP:0005368	Abnormality of humoral immunity	56160	NSMCE3	OMIM:617241
HP:0005368	Abnormality of humoral immunity	1828	DSG1	OMIM:615508
HP:0005368	Abnormality of humoral immunity	3559	IL2RA	OMIM:606367
HP:0005368	Abnormality of humoral immunity	3071	NCKAP1L	OMIM:618982
HP:0005368	Abnormality of humoral immunity	595	CCND1	ORPHA:29073
HP:0005368	Abnormality of humoral immunity	29775	CARD10	OMIM:619632
HP:0005368	Abnormality of humoral immunity	51371	POMP	OMIM:618048
HP:0005368	Abnormality of humoral immunity	10526	IPO8	OMIM:619472
HP:0005368	Abnormality of humoral immunity	5238	PGM3	ORPHA:443811
HP:0005368	Abnormality of humoral immunity	5238	PGM3	OMIM:615816
HP:0005368	Abnormality of humoral immunity	340061	STING1	OMIM:615934
HP:0005368	Abnormality of humoral immunity	3575	IL7R	ORPHA:169154
HP:0005368	Abnormality of humoral immunity	81704	DOCK8	OMIM:243700
HP:0005368	Abnormality of humoral immunity	7040	TGFB1	OMIM:618213
HP:0005368	Abnormality of humoral immunity	7174	TPP2	OMIM:619220
HP:0005368	Abnormality of humoral immunity	22861	NLRP1	OMIM:617388
HP:0005368	Abnormality of humoral immunity	3560	IL2RB	OMIM:618495
HP:0005368	Abnormality of humoral immunity	3459	IFNGR1	OMIM:209950
HP:0005368	Abnormality of humoral immunity	5696	PSMB8	OMIM:256040
HP:0005368	Abnormality of humoral immunity	404672	GTF2H5	OMIM:616395
HP:0005368	Abnormality of humoral immunity	2859	GPR35	ORPHA:171
HP:0005368	Abnormality of humoral immunity	10507	SEMA4D	ORPHA:171
HP:0005368	Abnormality of humoral immunity	4485	MST1	ORPHA:171
HP:0005368	Abnormality of humoral immunity	6925	TCF4	ORPHA:171
HP:0005368	Abnormality of humoral immunity	200942	KLHDC8B	OMIM:236000
HP:0005368	Abnormality of humoral immunity	90268	OTULIN	OMIM:617099
HP:0005368	Abnormality of humoral immunity	3594	IL12RB1	ORPHA:186
HP:0005368	Abnormality of humoral immunity	23534	TNPO3	ORPHA:186
HP:0005368	Abnormality of humoral immunity	3592	IL12A	ORPHA:186
HP:0005368	Abnormality of humoral immunity	6689	SPIB	ORPHA:186
HP:0005368	Abnormality of humoral immunity	5450	POU2AF1	ORPHA:186
HP:0005368	Abnormality of humoral immunity	9966	TNFSF15	ORPHA:186
HP:0005368	Abnormality of humoral immunity	79258	MMEL1	ORPHA:186
HP:0005368	Abnormality of humoral immunity	3663	IRF5	ORPHA:186
HP:0005368	Abnormality of humoral immunity	10159	ATP6AP2	OMIM:301045
HP:0005368	Abnormality of humoral immunity	83483	PLVAP	OMIM:618183
HP:0005368	Abnormality of humoral immunity	51750	RTEL1	OMIM:615190
HP:0005368	Abnormality of humoral immunity	3551	IKBKB	OMIM:615592
HP:0005368	Abnormality of humoral immunity	5728	PTEN	OMIM:605309
HP:0005368	Abnormality of humoral immunity	5728	PTEN	OMIM:158350
HP:0005368	Abnormality of humoral immunity	100151683	RNU4ATAC	ORPHA:353298
HP:0005368	Abnormality of humoral immunity	8737	RIPK1	OMIM:618108
HP:0005368	Abnormality of humoral immunity	113235	SLC46A1	ORPHA:90045
HP:0005368	Abnormality of humoral immunity	2316	FLNA	ORPHA:99811
HP:0005368	Abnormality of humoral immunity	5551	PRF1	ORPHA:540
HP:0005368	Abnormality of humoral immunity	8676	STX11	ORPHA:540
HP:0005368	Abnormality of humoral immunity	201294	UNC13D	ORPHA:540
HP:0005368	Abnormality of humoral immunity	6813	STXBP2	ORPHA:540
HP:0005368	Abnormality of humoral immunity	6813	STXBP2	OMIM:613101
HP:0005368	Abnormality of humoral immunity	4522	MTHFD1	OMIM:617780
HP:0005368	Abnormality of humoral immunity	939	CD27	OMIM:615122
HP:0005368	Abnormality of humoral immunity	10525	HYOU1	OMIM:233600
HP:0005368	Abnormality of humoral immunity	4790	NFKB1	OMIM:616576
HP:0005368	Abnormality of humoral immunity	4790	NFKB1	ORPHA:1572
HP:0005368	Abnormality of humoral immunity	114803	MYSM1	OMIM:618116
HP:0005368	Abnormality of humoral immunity	79840	NHEJ1	ORPHA:169079
HP:0005368	Abnormality of humoral immunity	5994	RFXAP	ORPHA:572
HP:0005368	Abnormality of humoral immunity	4261	CIITA	ORPHA:572
HP:0005368	Abnormality of humoral immunity	5993	RFX5	ORPHA:572
HP:0005368	Abnormality of humoral immunity	8625	RFXANK	ORPHA:572
HP:0005368	Abnormality of humoral immunity	6023	RMRP	ORPHA:175
HP:0005368	Abnormality of humoral immunity	7037	TFRC	OMIM:616740
HP:0005368	Abnormality of humoral immunity	4125	MAN2B1	OMIM:248500
HP:0005368	Abnormality of humoral immunity	10111	RAD50	OMIM:613078
HP:0005368	Abnormality of humoral immunity	9839	ZEB2	ORPHA:261552
HP:0005368	Abnormality of humoral immunity	9839	ZEB2	ORPHA:261537
HP:0005368	Abnormality of humoral immunity	4478	MSN	OMIM:300988
HP:0005368	Abnormality of humoral immunity	3070	HELLS	ORPHA:2268
HP:0005368	Abnormality of humoral immunity	3070	HELLS	OMIM:616911
HP:0005368	Abnormality of humoral immunity	1789	DNMT3B	ORPHA:2268
HP:0005368	Abnormality of humoral immunity	83879	CDCA7	ORPHA:2268
HP:0005368	Abnormality of humoral immunity	83879	CDCA7	OMIM:616910
HP:0005368	Abnormality of humoral immunity	10320	IKZF1	OMIM:616873
HP:0005368	Abnormality of humoral immunity	8742	TNFSF12	ORPHA:1572
HP:0005368	Abnormality of humoral immunity	970	CD70	OMIM:618261
HP:0005368	Abnormality of humoral immunity	57217	TTC7A	OMIM:243150
HP:0005368	Abnormality of humoral immunity	51095	TRNT1	OMIM:616084
HP:0005368	Abnormality of humoral immunity	9508	ADAMTS3	ORPHA:2136
HP:0005368	Abnormality of humoral immunity	147372	CCBE1	ORPHA:2136
HP:0005368	Abnormality of humoral immunity	79633	FAT4	ORPHA:2136
HP:0005368	Abnormality of humoral immunity	3507	IGHM	OMIM:601495
HP:0005368	Abnormality of humoral immunity	493856	CISD2	OMIM:604928
HP:0005368	Abnormality of humoral immunity	8915	BCL10	OMIM:616098
HP:0005368	Abnormality of humoral immunity	4780	NFE2L2	OMIM:617744
HP:0005368	Abnormality of humoral immunity	51816	ADA2	OMIM:615688
HP:0005368	Abnormality of humoral immunity	6117	RPA1	OMIM:619767
HP:0005368	Abnormality of humoral immunity	10165	SLC25A13	ORPHA:247598
HP:0005368	Abnormality of humoral immunity	4938	OAS1	OMIM:618042
HP:0005368	Abnormality of humoral immunity	7157	TP53	OMIM:618165
HP:0005368	Abnormality of humoral immunity	9652	SKIC3	OMIM:222470
HP:0005368	Abnormality of humoral immunity	27040	LAT	OMIM:617514
HP:0005368	Abnormality of humoral immunity	9939	RBM8A	OMIM:274000
HP:0005368	Abnormality of humoral immunity	1604	CD55	OMIM:226300
HP:0005368	Abnormality of humoral immunity	3852	KRT5	ORPHA:79396
HP:0005368	Abnormality of humoral immunity	3861	KRT14	ORPHA:79396
HP:0005368	Abnormality of humoral immunity	219285	SAMD9L	ORPHA:2585
HP:0005368	Abnormality of humoral immunity	204	AK2	ORPHA:33355
HP:0005368	Abnormality of humoral immunity	2137	EXTL3	ORPHA:508533
HP:0005368	Abnormality of humoral immunity	3561	IL2RG	ORPHA:276
HP:0005368	Abnormality of humoral immunity	3561	IL2RG	OMIM:312863
HP:0005368	Abnormality of humoral immunity	3561	IL2RG	OMIM:300400
HP:0005368	Abnormality of humoral immunity	355	FAS	ORPHA:3261
HP:0005368	Abnormality of humoral immunity	356	FASLG	ORPHA:3261
HP:0005368	Abnormality of humoral immunity	5580	PRKCD	ORPHA:3261
HP:0005368	Abnormality of humoral immunity	843	CASP10	ORPHA:3261
HP:0005368	Abnormality of humoral immunity	10125	RASGRP1	ORPHA:3261
HP:0005368	Abnormality of humoral immunity	10125	RASGRP1	OMIM:618534
HP:0005368	Abnormality of humoral immunity	64421	DCLRE1C	ORPHA:275
HP:0005368	Abnormality of humoral immunity	695	BTK	OMIM:300755
HP:0005368	Abnormality of humoral immunity	10043	TOM1	OMIM:619510
HP:0005368	Abnormality of humoral immunity	3572	IL6ST	OMIM:619752
HP:0005368	Abnormality of humoral immunity	3702	ITK	OMIM:613011
HP:0005368	Abnormality of humoral immunity	115650	TNFRSF13C	OMIM:613494
HP:0005368	Abnormality of humoral immunity	115650	TNFRSF13C	OMIM:240500
HP:0005368	Abnormality of humoral immunity	5295	PIK3R1	OMIM:616005
HP:0005368	Abnormality of humoral immunity	9841	ZBTB24	OMIM:614069
HP:0005368	Abnormality of humoral immunity	5880	RAC2	OMIM:618986
HP:0005368	Abnormality of humoral immunity	5880	RAC2	OMIM:618987
HP:0005368	Abnormality of humoral immunity	3932	LCK	OMIM:615758
HP:0005368	Abnormality of humoral immunity	6948	TCN2	OMIM:275350
HP:0005368	Abnormality of humoral immunity	6948	TCN2	ORPHA:859
HP:0005368	Abnormality of humoral immunity	3570	IL6R	OMIM:618944
HP:0005368	Abnormality of humoral immunity	987	LRBA	OMIM:614700
HP:0005368	Abnormality of humoral immunity	8517	IKBKG	OMIM:301081
HP:0005368	Abnormality of humoral immunity	54440	SASH3	OMIM:301082
HP:0005368	Abnormality of humoral immunity	959	CD40LG	OMIM:308230
HP:0005368	Abnormality of humoral immunity	4796	TONSL	OMIM:271510
HP:0005368	Abnormality of humoral immunity	4247	MGAT2	ORPHA:79329
HP:0005368	Abnormality of humoral immunity	7555	CNBP	OMIM:602668
HP:0005368	Abnormality of humoral immunity	1457	CSNK2A1	OMIM:617062
HP:0005368	Abnormality of humoral immunity	57379	AICDA	OMIM:605258
HP:0005368	Abnormality of humoral immunity	374354	NHLRC2	OMIM:618278
HP:0005368	Abnormality of humoral immunity	60468	BACH2	OMIM:618394
HP:0005368	Abnormality of humoral immunity	974	CD79B	OMIM:612692
HP:0005368	Abnormality of humoral immunity	5788	PTPRC	OMIM:619924
HP:0005368	Abnormality of humoral immunity	11005	SPINK5	OMIM:256500
HP:0005368	Abnormality of humoral immunity	641	BLM	OMIM:210900
HP:0005368	Abnormality of humoral immunity	641	BLM	ORPHA:125
HP:0005368	Abnormality of humoral immunity	841	CASP8	OMIM:607271
HP:0005368	Abnormality of humoral immunity	472	ATM	OMIM:208900
HP:0005368	Abnormality of humoral immunity	59067	IL21	OMIM:615767
HP:0005368	Abnormality of humoral immunity	29760	BLNK	OMIM:613502
HP:0005368	Abnormality of humoral immunity	5294	PIK3CG	OMIM:619802
HP:0005368	Abnormality of humoral immunity	7841	MOGS	ORPHA:79330
HP:0005368	Abnormality of humoral immunity	3718	JAK3	ORPHA:35078
HP:0005368	Abnormality of humoral immunity	331	XIAP	OMIM:308240
HP:0005368	Abnormality of humoral immunity	4068	SH2D1A	OMIM:308240
HP:0005368	Abnormality of humoral immunity	29851	ICOS	OMIM:607594
HP:0005368	Abnormality of humoral immunity	29851	ICOS	OMIM:240500
HP:0005368	Abnormality of humoral immunity	7298	TYMS	OMIM:620040
HP:0005368	Abnormality of humoral immunity	57724	EPG5	OMIM:242840
HP:0005368	Abnormality of humoral immunity	57724	EPG5	ORPHA:1493
HP:0005368	Abnormality of humoral immunity	915	CD3D	ORPHA:169160
HP:0005368	Abnormality of humoral immunity	916	CD3E	ORPHA:169160
HP:0005368	Abnormality of humoral immunity	919	CD247	ORPHA:169160
HP:0005368	Abnormality of humoral immunity	65082	VPS33A	ORPHA:505248
HP:0005368	Abnormality of humoral immunity	5966	REL	OMIM:619652
HP:0005368	Abnormality of humoral immunity	55687	TRMU	OMIM:613070
HP:0005368	Abnormality of humoral immunity	23495	TNFRSF13B	OMIM:240500
HP:0005368	Abnormality of humoral immunity	930	CD19	OMIM:240500
HP:0005368	Abnormality of humoral immunity	3978	LIG1	OMIM:619774
HP:0005368	Abnormality of humoral immunity	6651	SON	ORPHA:500150
HP:0005368	Abnormality of humoral immunity	1493	CTLA4	OMIM:616100
HP:0005368	Abnormality of humoral immunity	4791	NFKB2	OMIM:615577
HP:0005368	Abnormality of humoral immunity	7852	CXCR4	OMIM:193670
HP:0005368	Abnormality of humoral immunity	5896	RAG1	ORPHA:331206
HP:0005368	Abnormality of humoral immunity	5896	RAG1	OMIM:233650
HP:0005368	Abnormality of humoral immunity	5897	RAG2	ORPHA:331206
HP:0005368	Abnormality of humoral immunity	5897	RAG2	OMIM:233650
HP:0005368	Abnormality of humoral immunity	8792	TNFRSF11A	OMIM:612301
HP:0005368	Abnormality of humoral immunity	5557	PRIM1	OMIM:620005
HP:0005368	Abnormality of humoral immunity	3431	SP110	OMIM:235550
HP:0005368	Abnormality of humoral immunity	79087	ALG12	OMIM:607143
HP:0005368	Abnormality of humoral immunity	51311	TLR8	OMIM:301078
HP:0005368	Abnormality of humoral immunity	2068	ERCC2	OMIM:601675
HP:0005368	Abnormality of humoral immunity	7374	UNG	OMIM:608106
HP:0005368	Abnormality of humoral immunity	958	CD40	OMIM:606843
HP:0005368	Abnormality of humoral immunity	567	B2M	OMIM:241600
HP:0005368	Abnormality of humoral immunity	8884	SLC5A6	OMIM:618973
HP:0005368	Abnormality of humoral immunity	96459	FNIP1	OMIM:619705
HP:0005368	Abnormality of humoral immunity	359948	IRF2BP2	OMIM:617765
HP:0005368	Abnormality of humoral immunity	6688	SPI1	OMIM:619707
HP:0005368	Abnormality of humoral immunity	9138	ARHGEF1	OMIM:618459
HP:0005368	Abnormality of humoral immunity	84888	SPPL2A	OMIM:619549
HP:0005368	Abnormality of humoral immunity	6929	TCF3	OMIM:619824
HP:0005368	Abnormality of humoral immunity	165918	RNF168	OMIM:611943
HP:0005368	Abnormality of humoral immunity	165918	RNF168	ORPHA:420741
HP:0005368	Abnormality of humoral immunity	8883	NAE1	OMIM:620210
HP:0005368	Abnormality of humoral immunity	5373	PMM2	OMIM:212065
HP:0005368	Abnormality of humoral immunity	10747	MASP2	OMIM:613791
HP:0005368	Abnormality of humoral immunity	2584	GALK1	ORPHA:79237
HP:0005368	Abnormality of humoral immunity	7922	SLC39A7	OMIM:619693
HP:0005368	Abnormality of humoral immunity	1678	TIMM8A	ORPHA:52368
HP:0005368	Abnormality of humoral immunity	973	CD79A	OMIM:613501
HP:0005368	Abnormality of humoral immunity	973	CD79A	ORPHA:33110
HP:0005368	Abnormality of humoral immunity	3543	IGLL1	OMIM:613500
HP:0005368	Abnormality of humoral immunity	3543	IGLL1	ORPHA:33110
HP:0005368	Abnormality of humoral immunity	56262	LRRC8A	OMIM:613506
HP:0005368	Abnormality of humoral immunity	56262	LRRC8A	ORPHA:33110
HP:0005368	Abnormality of humoral immunity	732	C8B	OMIM:613789
HP:0005368	Abnormality of humoral immunity	731	C8A	OMIM:613790
HP:0005368	Abnormality of humoral immunity	716	C1S	OMIM:613783
HP:0005368	Abnormality of humoral immunity	4000	LMNA	ORPHA:2348
HP:0005368	Abnormality of humoral immunity	712	C1QA	OMIM:613652
HP:0005368	Abnormality of humoral immunity	4914	NTRK1	ORPHA:642
HP:0005368	Abnormality of humoral immunity	3075	CFH	OMIM:609814
HP:0005368	Abnormality of humoral immunity	629	CFB	OMIM:615561
HP:0005368	Abnormality of humoral immunity	84823	LMNB2	OMIM:608709
HP:0005368	Abnormality of humoral immunity	84823	LMNB2	ORPHA:79087
HP:0005368	Abnormality of humoral immunity	1776	DNASE1L3	OMIM:614420
HP:0005368	Abnormality of humoral immunity	55690	PACS1	ORPHA:329224
HP:0005368	Abnormality of humoral immunity	3426	CFI	OMIM:610984
HP:0005368	Abnormality of humoral immunity	3426	CFI	OMIM:612923
HP:0005368	Abnormality of humoral immunity	4179	CD46	OMIM:612922
HP:0005368	Abnormality of humoral immunity	6775	STAT4	ORPHA:93552
HP:0005368	Abnormality of humoral immunity	6696	SPP1	ORPHA:93552
HP:0005368	Abnormality of humoral immunity	3654	IRAK1	ORPHA:93552
HP:0005368	Abnormality of humoral immunity	718	C3	OMIM:613779
HP:0005368	Abnormality of humoral immunity	718	C3	OMIM:612925
HP:0005368	Abnormality of humoral immunity	7056	THBD	OMIM:612926
HP:0005368	Abnormality of humoral immunity	3078	CFHR1	OMIM:235400
HP:0005368	Abnormality of humoral immunity	10878	CFHR3	OMIM:235400
HP:0005368	Abnormality of humoral immunity	51284	TLR7	OMIM:301080
HP:0005368	Abnormality of humoral immunity	5199	CFP	OMIM:312060
HP:0005368	Abnormality of humoral immunity	100	ADA	OMIM:102700
HP:0005368	Abnormality of humoral immunity	56259	CTNNBL1	OMIM:619846
HP:0005368	Abnormality of humoral immunity	1675	CFD	OMIM:613912
HP:0005368	Abnormality of humoral immunity	84876	ORAI1	OMIM:612782
HP:0005368	Abnormality of humoral immunity	6786	STIM1	OMIM:612783
HP:0005368	Abnormality of humoral immunity	940	CD28	ORPHA:3162
HP:0005368	Abnormality of humoral immunity	7133	TNFRSF1B	ORPHA:3162
HP:0005368	Abnormality of humoral immunity	50485	SMARCAL1	OMIM:242900
HP:0005368	Abnormality of humoral immunity	6729	SRP54	OMIM:618752
HP:0005368	Abnormality of humoral immunity	9056	SLC7A7	ORPHA:470
HP:0005368	Abnormality of humoral immunity	213	ALB	ORPHA:86816
HP:0005368	Abnormality of humoral immunity	3845	KRAS	OMIM:614470
HP:0005368	Abnormality of humoral immunity	4893	NRAS	OMIM:614470
HP:0005368	Abnormality of humoral immunity	6440	SFTPC	OMIM:178500
HP:0005368	Abnormality of humoral immunity	727897	MUC5B	OMIM:178500
HP:0005368	Abnormality of humoral immunity	729238	SFTPA2	OMIM:178500
HP:0005368	Abnormality of humoral immunity	7015	TERT	OMIM:178500
HP:0005368	Abnormality of humoral immunity	11311	VPS45	OMIM:615285
HP:0005368	Abnormality of humoral immunity	5184	PEPD	OMIM:170100
HP:0005368	Abnormality of humoral immunity	1277	COL1A1	ORPHA:1310
HP:0005368	Abnormality of humoral immunity	3123	HLA-DRB1	OMIM:181000
HP:0005368	Abnormality of humoral immunity	5692	PSMB4	OMIM:617591
HP:0005368	Abnormality of humoral immunity	5698	PSMB9	OMIM:617591
HP:0005368	Abnormality of humoral immunity	2629	GBA1	ORPHA:77261
HP:0005368	Abnormality of humoral immunity	2629	GBA1	ORPHA:77259
HP:0005368	Abnormality of humoral immunity	9051	PSTPIP1	ORPHA:69126
HP:0005368	Abnormality of humoral immunity	23064	SETX	OMIM:606002
HP:0005368	Abnormality of humoral immunity	1991	ELANE	OMIM:202700
HP:0005368	Abnormality of humoral immunity	950	SCARB2	ORPHA:77259
HP:0005368	Abnormality of humoral immunity	735	C9	OMIM:613825
HP:0005368	Abnormality of humoral immunity	975	CD81	OMIM:613496
HP:0005368	Abnormality of humoral immunity	1503	CTPS1	OMIM:615897
HP:0005368	Abnormality of humoral immunity	7535	ZAP70	OMIM:617006
HP:0005368	Abnormality of humoral immunity	5293	PIK3CD	OMIM:615513
HP:0005368	Abnormality of humoral immunity	3514	IGKC	ORPHA:183675
HP:0005368	Abnormality of humoral immunity	3501	IGHG2	ORPHA:183675
HP:0005368	Abnormality of humoral immunity	3981	LIG4	OMIM:254500
HP:0005368	Abnormality of humoral immunity	6850	SYK	OMIM:619381
HP:0005368	Abnormality of humoral immunity	10625	IVNS1ABP	OMIM:618969
HP:0005368	Abnormality of humoral immunity	537	ATP6AP1	OMIM:300972
HP:0005368	Abnormality of humoral immunity	90417	KNSTRN	ORPHA:221139
HP:0005368	Abnormality of humoral immunity	931	MS4A1	OMIM:613495
HP:0005368	Abnormality of humoral immunity	64135	IFIH1	OMIM:619773
HP:0005368	Abnormality of humoral immunity	30011	SH3KBP1	OMIM:300310
HP:0005368	Abnormality of humoral immunity	146206	CARMIL2	OMIM:618131
HP:0005368	Abnormality of humoral immunity	730	C7	OMIM:610102
HP:0005368	Abnormality of humoral immunity	729	C6	OMIM:612446
HP:0005368	Abnormality of humoral immunity	727	C5	OMIM:609536
HP:0005368	Abnormality of humoral immunity	917	CD3G	OMIM:615607
HP:0005368	Abnormality of humoral immunity	7737	RNF113A	OMIM:300953
HP:0005368	Abnormality of humoral immunity	1380	CR2	OMIM:614699
HP:0005368	Abnormality of humoral immunity	720	C4A	OMIM:614380
HP:0005368	Abnormality of humoral immunity	710	SERPING1	OMIM:106100
HP:0005368	Abnormality of humoral immunity	721	C4B	OMIM:614379
HP:0005368	Abnormality of humoral immunity	4615	MYD88	ORPHA:33226
HP:0005368	Abnormality of humoral immunity	6773	STAT2	OMIM:616636
HP:0005368	Abnormality of humoral immunity	3394	IRF8	OMIM:226990
HP:0005368	Abnormality of humoral immunity	4598	MVK	OMIM:260920
HP:0005368	Abnormality of humoral immunity	4598	MVK	OMIM:610377
HP:0005368	Abnormality of humoral immunity	55343	SLC35C1	ORPHA:99843
HP:0005368	Abnormality of humoral immunity	10892	MALT1	OMIM:615468
HP:0005368	Abnormality of humoral immunity	11151	CORO1A	OMIM:615401
HP:0005366	Recurrent streptococcus pneumoniae infections	3426	CFI	OMIM:610984
HP:0005366	Recurrent streptococcus pneumoniae infections	51135	IRAK4	ORPHA:70592
HP:0004429	Recurrent viral infections	3507	IGHM	OMIM:601495
HP:0004429	Recurrent viral infections	695	BTK	OMIM:300755
HP:0004429	Recurrent viral infections	695	BTK	OMIM:307200
HP:0004429	Recurrent viral infections	30011	SH3KBP1	OMIM:300310
HP:0004429	Recurrent viral infections	64421	DCLRE1C	ORPHA:275
HP:0004429	Recurrent viral infections	64421	DCLRE1C	OMIM:603554
HP:0004429	Recurrent viral infections	4261	CIITA	OMIM:209920
HP:0004429	Recurrent viral infections	4261	CIITA	ORPHA:572
HP:0004429	Recurrent viral infections	5994	RFXAP	OMIM:209920
HP:0004429	Recurrent viral infections	5994	RFXAP	ORPHA:572
HP:0004429	Recurrent viral infections	5993	RFX5	OMIM:209920
HP:0004429	Recurrent viral infections	5993	RFX5	ORPHA:572
HP:0004429	Recurrent viral infections	8625	RFXANK	OMIM:209920
HP:0004429	Recurrent viral infections	8625	RFXANK	ORPHA:572
HP:0004429	Recurrent viral infections	9636	ISG15	OMIM:616126
HP:0004429	Recurrent viral infections	4860	PNP	OMIM:613179
HP:0004429	Recurrent viral infections	5238	PGM3	ORPHA:443811
HP:0004429	Recurrent viral infections	6789	STK4	OMIM:614868
HP:0004429	Recurrent viral infections	5293	PIK3CD	ORPHA:221139
HP:0004429	Recurrent viral infections	90417	KNSTRN	ORPHA:221139
HP:0004429	Recurrent viral infections	4173	MCM4	OMIM:609981
HP:0004429	Recurrent viral infections	5896	RAG1	OMIM:603554
HP:0004429	Recurrent viral infections	5896	RAG1	ORPHA:331206
HP:0004429	Recurrent viral infections	5897	RAG2	OMIM:603554
HP:0004429	Recurrent viral infections	5897	RAG2	ORPHA:331206
HP:0004429	Recurrent viral infections	3575	IL7R	ORPHA:169154
HP:0004429	Recurrent viral infections	253959	RALGAPA1	OMIM:618797
HP:0004429	Recurrent viral infections	7297	TYK2	OMIM:611521
HP:0004429	Recurrent viral infections	3716	JAK1	OMIM:618999
HP:0004429	Recurrent viral infections	3718	JAK3	ORPHA:35078
HP:0004429	Recurrent viral infections	79840	NHEJ1	ORPHA:169079
HP:0004429	Recurrent viral infections	134218	DNAJC21	ORPHA:811
HP:0004429	Recurrent viral infections	79631	EFL1	ORPHA:811
HP:0004429	Recurrent viral infections	51119	SBDS	ORPHA:811
HP:0004429	Recurrent viral infections	6729	SRP54	ORPHA:811
HP:0004429	Recurrent viral infections	6729	SRP54	ORPHA:486
HP:0004429	Recurrent viral infections	925	CD8A	OMIM:608957
HP:0004429	Recurrent viral infections	57724	EPG5	OMIM:242840
HP:0004429	Recurrent viral infections	84061	MAGT1	OMIM:300853
HP:0004429	Recurrent viral infections	51371	POMP	OMIM:618048
HP:0004429	Recurrent viral infections	50619	DEF6	OMIM:619573
HP:0004429	Recurrent viral infections	10379	IRF9	OMIM:618648
HP:0004429	Recurrent viral infections	100	ADA	OMIM:102700
HP:0004429	Recurrent viral infections	1503	CTPS1	OMIM:615897
HP:0004429	Recurrent viral infections	6772	STAT1	OMIM:613796
HP:0004429	Recurrent viral infections	6772	STAT1	OMIM:614892
HP:0004429	Recurrent viral infections	686	BTD	ORPHA:79241
HP:0004429	Recurrent viral infections	3431	SP110	ORPHA:79124
HP:0004429	Recurrent viral infections	10312	TCIRG1	ORPHA:486
HP:0004429	Recurrent viral infections	1991	ELANE	ORPHA:486
HP:0004429	Recurrent viral infections	2672	GFI1	ORPHA:486
HP:0004429	Recurrent viral infections	81570	CLPB	ORPHA:486
HP:0004429	Recurrent viral infections	81704	DOCK8	OMIM:243700
HP:0004429	Recurrent viral infections	81704	DOCK8	ORPHA:217390
HP:0004429	Recurrent viral infections	2624	GATA2	OMIM:614172
HP:0004429	Recurrent viral infections	2313	FLI1	OMIM:617443
HP:0004429	Recurrent viral infections	10892	MALT1	OMIM:615468
HP:0004429	Recurrent viral infections	10320	IKZF1	OMIM:616873
HP:0004429	Recurrent viral infections	7535	ZAP70	ORPHA:911
HP:0004429	Recurrent viral infections	3559	IL2RA	OMIM:606367
HP:0004429	Recurrent viral infections	165918	RNF168	ORPHA:420741
HP:0004429	Recurrent viral infections	6023	RMRP	OMIM:250250
HP:0004429	Recurrent viral infections	3561	IL2RG	ORPHA:276
HP:0004429	Recurrent viral infections	9138	ARHGEF1	OMIM:618459
HP:0004429	Recurrent viral infections	4791	NFKB2	OMIM:615577
HP:0004429	Recurrent viral infections	64135	IFIH1	OMIM:619773
HP:0004429	Recurrent viral infections	2214	FCGR3A	OMIM:615707
HP:0005363	Humoral immunodeficiency	4860	PNP	ORPHA:760
HP:0005363	Humoral immunodeficiency	1387	CREBBP	ORPHA:353277
HP:0005363	Humoral immunodeficiency	1387	CREBBP	ORPHA:353281
HP:0005363	Humoral immunodeficiency	2033	EP300	ORPHA:353284
HP:0005360	Susceptibility to chickenpox	6023	RMRP	OMIM:250250
HP:0031220	Increased radioactive iodine uptake	405753	DUOXA2	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	6528	SLC5A5	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	7038	TG	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	7173	TPO	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	389434	IYD	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	50506	DUOX2	ORPHA:95716
HP:0031220	Increased radioactive iodine uptake	7253	TSHR	ORPHA:90673
HP:0031221	Abnormal radioactive iodine uptake test result	5626	PROP1	ORPHA:226307
HP:0031221	Abnormal radioactive iodine uptake test result	89884	LHX4	ORPHA:226307
HP:0031221	Abnormal radioactive iodine uptake test result	8022	LHX3	ORPHA:226307
HP:0031221	Abnormal radioactive iodine uptake test result	5449	POU1F1	ORPHA:226307
HP:0031221	Abnormal radioactive iodine uptake test result	8820	HESX1	ORPHA:226307
HP:0031221	Abnormal radioactive iodine uptake test result	405753	DUOXA2	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	6528	SLC5A5	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	7038	TG	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	7173	TPO	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	389434	IYD	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	50506	DUOX2	ORPHA:95716
HP:0031221	Abnormal radioactive iodine uptake test result	7253	TSHR	ORPHA:90673
HP:0031221	Abnormal radioactive iodine uptake test result	7201	TRHR	ORPHA:99832
HP:0031221	Abnormal radioactive iodine uptake test result	7252	TSHB	ORPHA:90674
HP:0031223	Focal pancreatic islet hyperplasia	6833	ABCC8	ORPHA:276575
HP:0031223	Focal pancreatic islet hyperplasia	3767	KCNJ11	ORPHA:79644
HP:0031224	Diffuse pancreatic islet hyperplasia	3767	KCNJ11	ORPHA:276580
HP:0031224	Diffuse pancreatic islet hyperplasia	3767	KCNJ11	ORPHA:79644
HP:0031224	Diffuse pancreatic islet hyperplasia	7351	UCP2	ORPHA:276556
HP:0031224	Diffuse pancreatic islet hyperplasia	6833	ABCC8	ORPHA:276575
HP:0031228	Abnormal incisura morphology	25836	NIPBL	OMIM:122470
HP:0031228	Abnormal incisura morphology	3199	HOXA2	OMIM:612290
HP:0031229	Increased incisura length	3199	HOXA2	OMIM:612290
HP:0100321	Abnormal dentate nucleus morphology	1161	ERCC8	ORPHA:90324
HP:0100321	Abnormal dentate nucleus morphology	2074	ERCC6	ORPHA:90324
HP:0100321	Abnormal dentate nucleus morphology	727676	SNORD118	ORPHA:542310
HP:0100321	Abnormal dentate nucleus morphology	6575	SLC20A2	OMIM:213600
HP:0100321	Abnormal dentate nucleus morphology	5155	PDGFB	OMIM:213600
HP:0100321	Abnormal dentate nucleus morphology	5159	PDGFRB	OMIM:213600
HP:0100321	Abnormal dentate nucleus morphology	124997	WDR81	OMIM:610185
HP:0100321	Abnormal dentate nucleus morphology	1822	ATN1	OMIM:125370
HP:0100321	Abnormal dentate nucleus morphology	1593	CYP27A1	ORPHA:909
HP:0100321	Abnormal dentate nucleus morphology	1593	CYP27A1	OMIM:213700
HP:0100321	Abnormal dentate nucleus morphology	1182	CLCN3	OMIM:619517
HP:0100321	Abnormal dentate nucleus morphology	1182	CLCN3	OMIM:619512
HP:0100321	Abnormal dentate nucleus morphology	2670	GFAP	OMIM:203450
HP:0100321	Abnormal dentate nucleus morphology	1356	CP	ORPHA:48818
HP:0100321	Abnormal dentate nucleus morphology	2512	FTL	ORPHA:157846
HP:0100321	Abnormal dentate nucleus morphology	8813	DPM1	ORPHA:79322
HP:0100320	Rosenthal fibers	727676	SNORD118	ORPHA:542310
HP:0100320	Rosenthal fibers	2670	GFAP	ORPHA:363717
HP:0005880	Metacarpophalangeal synostosis	9241	NOG	ORPHA:3250
HP:0005880	Metacarpophalangeal synostosis	9241	NOG	OMIM:185800
HP:0005880	Metacarpophalangeal synostosis	8200	GDF5	ORPHA:3250
HP:0005880	Metacarpophalangeal synostosis	10084	PQBP1	OMIM:309500
HP:0005880	Metacarpophalangeal synostosis	4841	NONO	OMIM:300967
HP:0100326	Immunologic hypersensitivity	2811	GP1BA	ORPHA:274
HP:0100326	Immunologic hypersensitivity	2812	GP1BB	ORPHA:274
HP:0100326	Immunologic hypersensitivity	2812	GP1BB	ORPHA:567
HP:0100326	Immunologic hypersensitivity	2815	GP9	ORPHA:274
HP:0100326	Immunologic hypersensitivity	91754	NEK9	OMIM:614262
HP:0100326	Immunologic hypersensitivity	154	ADRB2	OMIM:600807
HP:0100326	Immunologic hypersensitivity	240	ALOX5	OMIM:600807
HP:0100326	Immunologic hypersensitivity	6356	CCL11	OMIM:600807
HP:0100326	Immunologic hypersensitivity	7124	TNF	OMIM:600807
HP:0100326	Immunologic hypersensitivity	3176	HNMT	OMIM:600807
HP:0100326	Immunologic hypersensitivity	4589	MUC7	OMIM:600807
HP:0100326	Immunologic hypersensitivity	117156	SCGB3A2	OMIM:600807
HP:0100326	Immunologic hypersensitivity	3135	HLA-G	OMIM:600807
HP:0100326	Immunologic hypersensitivity	3596	IL13	OMIM:600807
HP:0100326	Immunologic hypersensitivity	987	LRBA	OMIM:614700
HP:0100326	Immunologic hypersensitivity	3981	LIG4	OMIM:606593
HP:0100326	Immunologic hypersensitivity	3981	LIG4	ORPHA:235
HP:0100326	Immunologic hypersensitivity	27125	AFF4	ORPHA:444077
HP:0100326	Immunologic hypersensitivity	1387	CREBBP	ORPHA:353281
HP:0100326	Immunologic hypersensitivity	1387	CREBBP	ORPHA:353277
HP:0100326	Immunologic hypersensitivity	9578	CDC42BPB	OMIM:619841
HP:0100326	Immunologic hypersensitivity	4010	LMX1B	ORPHA:495818
HP:0100326	Immunologic hypersensitivity	6812	STXBP1	ORPHA:495818
HP:0100326	Immunologic hypersensitivity	5184	PEPD	OMIM:170100
HP:0100326	Immunologic hypersensitivity	2782	GNB1	OMIM:616973
HP:0100326	Immunologic hypersensitivity	841	CASP8	OMIM:607271
HP:0100326	Immunologic hypersensitivity	4953	ODC1	ORPHA:544488
HP:0100326	Immunologic hypersensitivity	2033	EP300	ORPHA:353284
HP:0100326	Immunologic hypersensitivity	3716	JAK1	OMIM:618999
HP:0100326	Immunologic hypersensitivity	2260	FGFR1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	28514	DLL1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	2253	FGF8	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	6496	SIX3	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	7050	TGIF1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	4838	NODAL	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	6469	SHH	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	51684	SUFU	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	7546	ZIC2	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	2619	GAS1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	84976	DISP1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	2736	GLI2	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	8928	FOXH1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	5727	PTCH1	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	50937	CDON	ORPHA:280200
HP:0100326	Immunologic hypersensitivity	2212	FCGR2A	OMIM:219700
HP:0100326	Immunologic hypersensitivity	7040	TGFB1	OMIM:219700
HP:0100326	Immunologic hypersensitivity	7040	TGFB1	ORPHA:586
HP:0100326	Immunologic hypersensitivity	1080	CFTR	OMIM:219700
HP:0100326	Immunologic hypersensitivity	1080	CFTR	ORPHA:586
HP:0100326	Immunologic hypersensitivity	57589	RIC1	OMIM:618761
HP:0100326	Immunologic hypersensitivity	7840	ALMS1	OMIM:203800
HP:0100326	Immunologic hypersensitivity	7080	NKX2-1	ORPHA:209905
HP:0100326	Immunologic hypersensitivity	7080	NKX2-1	OMIM:610978
HP:0100326	Immunologic hypersensitivity	1312	COMT	ORPHA:567
HP:0100326	Immunologic hypersensitivity	221037	JMJD1C	ORPHA:567
HP:0100326	Immunologic hypersensitivity	6239	RREB1	ORPHA:567
HP:0100326	Immunologic hypersensitivity	6899	TBX1	ORPHA:567
HP:0100326	Immunologic hypersensitivity	6899	TBX1	OMIM:188400
HP:0100326	Immunologic hypersensitivity	7290	HIRA	ORPHA:567
HP:0100326	Immunologic hypersensitivity	9632	SEC24C	ORPHA:567
HP:0100326	Immunologic hypersensitivity	7353	UFD1	ORPHA:567
HP:0100326	Immunologic hypersensitivity	421	ARVCF	ORPHA:567
HP:0100326	Immunologic hypersensitivity	2068	ERCC2	OMIM:601675
HP:0100326	Immunologic hypersensitivity	64919	BCL11B	OMIM:618092
HP:0100326	Immunologic hypersensitivity	51428	DDX41	OMIM:616871
HP:0100326	Immunologic hypersensitivity	64127	NOD2	OMIM:617321
HP:0100326	Immunologic hypersensitivity	93627	TBCK	ORPHA:488632
HP:0100326	Immunologic hypersensitivity	2783	GNB2	OMIM:619503
HP:0100326	Immunologic hypersensitivity	6785	ELOVL4	OMIM:614457
HP:0100326	Immunologic hypersensitivity	54888	NSUN2	ORPHA:235
HP:0100326	Immunologic hypersensitivity	26160	IFT172	OMIM:619471
HP:0100326	Immunologic hypersensitivity	30009	TBX21	OMIM:619630
HP:0100326	Immunologic hypersensitivity	30009	TBX21	OMIM:208550
HP:0100326	Immunologic hypersensitivity	7874	USP7	ORPHA:500055
HP:0100326	Immunologic hypersensitivity	3572	IL6ST	OMIM:619752
HP:0100326	Immunologic hypersensitivity	3572	IL6ST	OMIM:619750
HP:0100326	Immunologic hypersensitivity	29775	CARD10	OMIM:619632
HP:0100326	Immunologic hypersensitivity	5732	PTGER2	OMIM:208550
HP:0100326	Immunologic hypersensitivity	6329	SCN4A	ORPHA:99735
HP:0100326	Immunologic hypersensitivity	415	ARSL	ORPHA:79345
HP:0100326	Immunologic hypersensitivity	2312	FLG	OMIM:146700
HP:0100326	Immunologic hypersensitivity	79796	ALG9	ORPHA:79328
HP:0100326	Immunologic hypersensitivity	6804	STX1A	ORPHA:586
HP:0100326	Immunologic hypersensitivity	2947	GSTM3	ORPHA:586
HP:0100326	Immunologic hypersensitivity	2729	GCLC	ORPHA:586
HP:0100326	Immunologic hypersensitivity	1084	CEACAM3	ORPHA:586
HP:0100326	Immunologic hypersensitivity	6556	SLC11A1	ORPHA:586
HP:0100326	Immunologic hypersensitivity	51164	DCTN4	ORPHA:586
HP:0100326	Immunologic hypersensitivity	3783	KCNN4	ORPHA:586
HP:0100326	Immunologic hypersensitivity	4282	MIF	ORPHA:586
HP:0100326	Immunologic hypersensitivity	1909	EDNRA	ORPHA:586
HP:0100326	Immunologic hypersensitivity	6550	SLC9A3	ORPHA:586
HP:0100326	Immunologic hypersensitivity	3162	HMOX1	ORPHA:586
HP:0100326	Immunologic hypersensitivity	115019	SLC26A9	ORPHA:586
HP:0100326	Immunologic hypersensitivity	3077	HFE	ORPHA:586
HP:0100326	Immunologic hypersensitivity	11254	SLC6A14	ORPHA:586
HP:0100326	Immunologic hypersensitivity	5265	SERPINA1	ORPHA:586
HP:0100326	Immunologic hypersensitivity	22802	CLCA4	ORPHA:586
HP:0100326	Immunologic hypersensitivity	4680	CEACAM6	ORPHA:586
HP:0100326	Immunologic hypersensitivity	374879	ZNF699	OMIM:619488
HP:0100326	Immunologic hypersensitivity	5971	RELB	OMIM:617585
HP:0100326	Immunologic hypersensitivity	10293	TRAIP	OMIM:616777
HP:0100326	Immunologic hypersensitivity	3481	IGF2	ORPHA:397590
HP:0100326	Immunologic hypersensitivity	1028	CDKN1C	ORPHA:397590
HP:0100326	Immunologic hypersensitivity	5324	PLAG1	ORPHA:397590
HP:0100326	Immunologic hypersensitivity	8091	HMGA2	ORPHA:397590
HP:0100326	Immunologic hypersensitivity	55717	WDR11	OMIM:620237
HP:0100326	Immunologic hypersensitivity	6392	SDHD	ORPHA:100093
HP:0100326	Immunologic hypersensitivity	10551	AGR2	OMIM:620233
HP:0100326	Immunologic hypersensitivity	55898	UNC45A	OMIM:619377
HP:0100326	Immunologic hypersensitivity	79989	IFT56	OMIM:619534
HP:0100326	Immunologic hypersensitivity	3423	IDS	OMIM:309900
HP:0100326	Immunologic hypersensitivity	4791	NFKB2	OMIM:615577
HP:0100326	Immunologic hypersensitivity	3977	LIFR	ORPHA:3206
HP:0100326	Immunologic hypersensitivity	79977	GRHL2	OMIM:616029
HP:0100326	Immunologic hypersensitivity	2678	GGT1	OMIM:231950
HP:0100326	Immunologic hypersensitivity	738	VPS51	OMIM:618606
HP:0100326	Immunologic hypersensitivity	84433	CARD11	OMIM:617638
HP:0100326	Immunologic hypersensitivity	51322	WAC	ORPHA:466950
HP:0100326	Immunologic hypersensitivity	81704	DOCK8	OMIM:243700
HP:0100326	Immunologic hypersensitivity	81704	DOCK8	ORPHA:217390
HP:0100326	Immunologic hypersensitivity	375056	MIA3	OMIM:619269
HP:0100326	Immunologic hypersensitivity	721	C4B	OMIM:614379
HP:0100326	Immunologic hypersensitivity	115948	ODAD3	OMIM:616037
HP:0100326	Immunologic hypersensitivity	5830	PEX5	OMIM:616716
HP:0100326	Immunologic hypersensitivity	6888	TALDO1	OMIM:606003
HP:0100326	Immunologic hypersensitivity	23314	SATB2	ORPHA:576283
HP:0100326	Immunologic hypersensitivity	9968	MED12	OMIM:301068
HP:0100326	Immunologic hypersensitivity	51256	TBC1D7	OMIM:248000
HP:0100326	Immunologic hypersensitivity	2859	GPR35	ORPHA:171
HP:0100326	Immunologic hypersensitivity	10507	SEMA4D	ORPHA:171
HP:0100326	Immunologic hypersensitivity	4485	MST1	ORPHA:171
HP:0100326	Immunologic hypersensitivity	6925	TCF4	ORPHA:171
HP:0100326	Immunologic hypersensitivity	8651	SOCS1	OMIM:619375
HP:0100326	Immunologic hypersensitivity	6774	STAT3	OMIM:615952
HP:0100326	Immunologic hypersensitivity	10625	IVNS1ABP	OMIM:618969
HP:0100326	Immunologic hypersensitivity	6777	STAT5B	OMIM:618985
HP:0100326	Immunologic hypersensitivity	3117	HLA-DQA1	OMIM:212750
HP:0100326	Immunologic hypersensitivity	3119	HLA-DQB1	OMIM:212750
HP:0100326	Immunologic hypersensitivity	3594	IL12RB1	ORPHA:186
HP:0100326	Immunologic hypersensitivity	23534	TNPO3	ORPHA:186
HP:0100326	Immunologic hypersensitivity	6689	SPIB	ORPHA:186
HP:0100326	Immunologic hypersensitivity	5450	POU2AF1	ORPHA:186
HP:0100326	Immunologic hypersensitivity	9966	TNFSF15	ORPHA:186
HP:0100326	Immunologic hypersensitivity	79258	MMEL1	ORPHA:186
HP:0100326	Immunologic hypersensitivity	3663	IRF5	ORPHA:186
HP:0100326	Immunologic hypersensitivity	10847	SRCAP	OMIM:136140
HP:0100326	Immunologic hypersensitivity	10847	SRCAP	ORPHA:2044
HP:0100326	Immunologic hypersensitivity	29998	BICRA	OMIM:619325
HP:0100326	Immunologic hypersensitivity	51085	MLXIPL	OMIM:194050
HP:0100326	Immunologic hypersensitivity	2006	ELN	OMIM:194050
HP:0100326	Immunologic hypersensitivity	10999	SLC27A4	OMIM:608649
HP:0100326	Immunologic hypersensitivity	1369	CPN1	OMIM:212070
HP:0100326	Immunologic hypersensitivity	23387	SIK3	OMIM:618162
HP:0100326	Immunologic hypersensitivity	7941	PLA2G7	OMIM:147050
HP:0100326	Immunologic hypersensitivity	50615	IL21R	OMIM:147050
HP:0100326	Immunologic hypersensitivity	3566	IL4R	OMIM:147050
HP:0100326	Immunologic hypersensitivity	2206	MS4A2	OMIM:147050
HP:0100326	Immunologic hypersensitivity	146206	CARMIL2	OMIM:618131
HP:0100326	Immunologic hypersensitivity	11005	SPINK5	OMIM:256500
HP:0100326	Immunologic hypersensitivity	1041	CDSN	ORPHA:90368
HP:0100326	Immunologic hypersensitivity	121391	KRT74	ORPHA:90368
HP:0100326	Immunologic hypersensitivity	5238	PGM3	ORPHA:443811
HP:0100326	Immunologic hypersensitivity	5238	PGM3	OMIM:615816
HP:0100326	Immunologic hypersensitivity	5336	PLCG2	OMIM:614468
HP:0100326	Immunologic hypersensitivity	84701	COX4I2	OMIM:612714
HP:0100326	Immunologic hypersensitivity	3514	IGKC	ORPHA:183675
HP:0100326	Immunologic hypersensitivity	3501	IGHG2	ORPHA:183675
HP:0100326	Immunologic hypersensitivity	100	ADA	ORPHA:277
HP:0100326	Immunologic hypersensitivity	9051	PSTPIP1	OMIM:604416
HP:0100326	Immunologic hypersensitivity	9333	TGM5	ORPHA:263534
HP:0100326	Immunologic hypersensitivity	1475	CSTA	ORPHA:263534
HP:0100326	Immunologic hypersensitivity	1105	CHD1	ORPHA:529965
HP:0100326	Immunologic hypersensitivity	27086	FOXP1	ORPHA:391372
HP:0100326	Immunologic hypersensitivity	1493	CTLA4	OMIM:616100
HP:0100326	Immunologic hypersensitivity	6711	SPTBN1	OMIM:619475
HP:0100326	Immunologic hypersensitivity	2475	MTOR	ORPHA:457485
HP:0100326	Immunologic hypersensitivity	50943	FOXP3	ORPHA:37042
HP:0100326	Immunologic hypersensitivity	84100	ARL6	OMIM:209900
HP:0100326	Immunologic hypersensitivity	79140	CCDC28B	OMIM:209900
HP:0100326	Immunologic hypersensitivity	582	BBS1	OMIM:209900
HP:0100326	Immunologic hypersensitivity	3115	HLA-DPB1	ORPHA:133
HP:0100326	Immunologic hypersensitivity	1001	CDH3	ORPHA:1573
HP:0100326	Immunologic hypersensitivity	1776	DNASE1L3	ORPHA:36412
HP:0100326	Immunologic hypersensitivity	149233	IL23R	ORPHA:117
HP:0100326	Immunologic hypersensitivity	6775	STAT4	ORPHA:117
HP:0100326	Immunologic hypersensitivity	3586	IL10	ORPHA:117
HP:0100326	Immunologic hypersensitivity	4210	MEFV	ORPHA:117
HP:0100326	Immunologic hypersensitivity	1230	CCR1	ORPHA:117
HP:0100326	Immunologic hypersensitivity	355	FAS	ORPHA:117
HP:0100326	Immunologic hypersensitivity	3592	IL12A	ORPHA:117
HP:0100326	Immunologic hypersensitivity	101928376	IL12A-AS1	ORPHA:117
HP:0100326	Immunologic hypersensitivity	3106	HLA-B	ORPHA:117
HP:0100326	Immunologic hypersensitivity	7099	TLR4	ORPHA:117
HP:0100326	Immunologic hypersensitivity	3459	IFNGR1	ORPHA:117
HP:0100326	Immunologic hypersensitivity	720	C4A	ORPHA:117
HP:0100326	Immunologic hypersensitivity	337867	UBAC2	ORPHA:117
HP:0100326	Immunologic hypersensitivity	51752	ERAP1	ORPHA:117
HP:0100326	Immunologic hypersensitivity	8302	KLRC4	ORPHA:117
HP:0100326	Immunologic hypersensitivity	9939	RBM8A	OMIM:274000
HP:0100326	Immunologic hypersensitivity	54914	FOCAD	OMIM:619991
HP:0100326	Immunologic hypersensitivity	171023	ASXL1	ORPHA:98850
HP:0100326	Immunologic hypersensitivity	54790	TET2	ORPHA:98850
HP:0100326	Immunologic hypersensitivity	867	CBL	ORPHA:98850
HP:0100326	Immunologic hypersensitivity	861	RUNX1	ORPHA:98850
HP:0100326	Immunologic hypersensitivity	6427	SRSF2	ORPHA:98850
HP:0100326	Immunologic hypersensitivity	3815	KIT	ORPHA:79455
HP:0100326	Immunologic hypersensitivity	10526	IPO8	OMIM:619472
HP:0100326	Immunologic hypersensitivity	55553	SOX6	OMIM:618971
HP:0100326	Immunologic hypersensitivity	816	CAMK2B	OMIM:617799
HP:0100326	Immunologic hypersensitivity	1828	DSG1	OMIM:615508
HP:0100326	Immunologic hypersensitivity	10060	ABCC9	OMIM:619719
HP:0100323	Juvenile aseptic necrosis	538	ATP7A	ORPHA:198
HP:0100323	Juvenile aseptic necrosis	55898	UNC45A	OMIM:619377
HP:0100323	Juvenile aseptic necrosis	26277	TINF2	OMIM:613990
HP:0100323	Juvenile aseptic necrosis	91754	NEK9	OMIM:614262
HP:0100323	Juvenile aseptic necrosis	9652	SKIC3	OMIM:222470
HP:0100323	Juvenile aseptic necrosis	1857	DVL3	ORPHA:3107
HP:0100323	Juvenile aseptic necrosis	7474	WNT5A	ORPHA:3107
HP:0100323	Juvenile aseptic necrosis	1855	DVL1	ORPHA:3107
HP:0100323	Juvenile aseptic necrosis	2535	FZD2	ORPHA:3107
HP:0100323	Juvenile aseptic necrosis	1387	CREBBP	ORPHA:353277
HP:0100323	Juvenile aseptic necrosis	1387	CREBBP	ORPHA:353281
HP:0100323	Juvenile aseptic necrosis	2335	FN1	ORPHA:93315
HP:0100323	Juvenile aseptic necrosis	1280	COL2A1	ORPHA:93315
HP:0100323	Juvenile aseptic necrosis	1280	COL2A1	OMIM:608805
HP:0100323	Juvenile aseptic necrosis	1280	COL2A1	OMIM:150600
HP:0100323	Juvenile aseptic necrosis	81031	SLC2A10	ORPHA:3342
HP:0100323	Juvenile aseptic necrosis	9719	ADAMTSL2	ORPHA:1901
HP:0100323	Juvenile aseptic necrosis	9509	ADAMTS2	ORPHA:1901
HP:0100323	Juvenile aseptic necrosis	4796	TONSL	ORPHA:93357
HP:0100323	Juvenile aseptic necrosis	4148	MATN3	ORPHA:93311
HP:0100323	Juvenile aseptic necrosis	2131	EXT1	ORPHA:502
HP:0100323	Juvenile aseptic necrosis	7227	TRPS1	ORPHA:502
HP:0100323	Juvenile aseptic necrosis	7227	TRPS1	OMIM:190350
HP:0100323	Juvenile aseptic necrosis	7227	TRPS1	OMIM:190351
HP:0100323	Juvenile aseptic necrosis	7227	TRPS1	ORPHA:77258
HP:0100323	Juvenile aseptic necrosis	55325	UFSP2	OMIM:142669
HP:0100323	Juvenile aseptic necrosis	11277	TREX1	ORPHA:247691
HP:0100323	Juvenile aseptic necrosis	59341	TRPV4	OMIM:617383
HP:0100323	Juvenile aseptic necrosis	1311	COMP	OMIM:132400
HP:0100323	Juvenile aseptic necrosis	1311	COMP	ORPHA:93308
HP:0100323	Juvenile aseptic necrosis	2033	EP300	ORPHA:353284
HP:0100323	Juvenile aseptic necrosis	10847	SRCAP	ORPHA:2044
HP:0100323	Juvenile aseptic necrosis	25782	RAB3GAP2	OMIM:212720
HP:0100323	Juvenile aseptic necrosis	64374	SIL1	ORPHA:559
HP:0100323	Juvenile aseptic necrosis	51763	INPP5K	ORPHA:559
HP:0100323	Juvenile aseptic necrosis	1278	COL1A2	ORPHA:1899
HP:0100323	Juvenile aseptic necrosis	1277	COL1A1	ORPHA:1899
HP:0100323	Juvenile aseptic necrosis	84295	PHF6	OMIM:301900
HP:0100323	Juvenile aseptic necrosis	4088	SMAD3	ORPHA:284984
HP:0100323	Juvenile aseptic necrosis	4088	SMAD3	OMIM:613795
HP:0100323	Juvenile aseptic necrosis	4010	LMX1B	ORPHA:2614
HP:0100323	Juvenile aseptic necrosis	1298	COL9A2	OMIM:600204
HP:0100323	Juvenile aseptic necrosis	4322	MMP13	OMIM:250400
HP:0100323	Juvenile aseptic necrosis	4998	ORC1	OMIM:224690
HP:0100323	Juvenile aseptic necrosis	176	ACAN	OMIM:165800
HP:0100323	Juvenile aseptic necrosis	2260	FGFR1	ORPHA:2396
HP:0100323	Juvenile aseptic necrosis	3845	KRAS	ORPHA:2396
HP:0100323	Juvenile aseptic necrosis	1859	DYRK1A	ORPHA:268261
HP:0100323	Juvenile aseptic necrosis	71	ACTG1	ORPHA:2995
HP:0100323	Juvenile aseptic necrosis	60	ACTB	ORPHA:2995
HP:0100324	Scleroderma	1410	CRYAB	OMIM:608810
HP:0100324	Scleroderma	7390	UROS	OMIM:263700
HP:0100324	Scleroderma	3930	LBR	OMIM:613471
HP:0100324	Scleroderma	4000	LMNA	OMIM:619793
HP:0100324	Scleroderma	4000	LMNA	ORPHA:363618
HP:0100324	Scleroderma	23592	LEMD3	ORPHA:166119
HP:0100324	Scleroderma	23592	LEMD3	ORPHA:1306
HP:0100324	Scleroderma	55315	SLC29A3	ORPHA:168569
HP:0100324	Scleroderma	5053	PAH	OMIM:261600
HP:0100324	Scleroderma	7389	UROD	OMIM:176100
HP:0100324	Scleroderma	3077	HFE	OMIM:176100
HP:0100324	Scleroderma	7486	WRN	OMIM:277700
HP:0100324	Scleroderma	1188	CLCNKB	ORPHA:358
HP:0100324	Scleroderma	6559	SLC12A3	ORPHA:358
HP:0100324	Scleroderma	3514	IGKC	ORPHA:183675
HP:0100324	Scleroderma	3501	IGHG2	ORPHA:183675
HP:0100327	Cow milk allergy	9939	RBM8A	OMIM:274000
HP:0100327	Cow milk allergy	54914	FOCAD	OMIM:619991
HP:0005430	Recurrent Neisserial infections	729	C6	OMIM:612446
HP:0005430	Recurrent Neisserial infections	3426	CFI	OMIM:610984
HP:0005430	Recurrent Neisserial infections	4153	MBL2	OMIM:614372
HP:0005430	Recurrent Neisserial infections	629	CFB	OMIM:615561
HP:0005430	Recurrent Neisserial infections	730	C7	OMIM:610102
HP:0005430	Recurrent Neisserial infections	732	C8B	OMIM:613789
HP:0005430	Recurrent Neisserial infections	727	C5	OMIM:609536
HP:0005376	Recurrent Haemophilus influenzae infections	3561	IL2RG	ORPHA:276
HP:0005376	Recurrent Haemophilus influenzae infections	6804	STX1A	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	2947	GSTM3	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	7040	TGFB1	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	2729	GCLC	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	1084	CEACAM3	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	6556	SLC11A1	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	51164	DCTN4	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	3783	KCNN4	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	4282	MIF	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	1909	EDNRA	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	6550	SLC9A3	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	3162	HMOX1	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	115019	SLC26A9	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	3077	HFE	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	11254	SLC6A14	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	5265	SERPINA1	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	1080	CFTR	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	1080	CFTR	ORPHA:60033
HP:0005376	Recurrent Haemophilus influenzae infections	22802	CLCA4	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	4680	CEACAM6	ORPHA:586
HP:0005376	Recurrent Haemophilus influenzae infections	3426	CFI	OMIM:610984
HP:0005376	Recurrent Haemophilus influenzae infections	6103	RPGR	OMIM:300455
HP:0005376	Recurrent Haemophilus influenzae infections	6340	SCNN1G	ORPHA:60033
HP:0005376	Recurrent Haemophilus influenzae infections	6337	SCNN1A	ORPHA:60033
HP:0005376	Recurrent Haemophilus influenzae infections	6338	SCNN1B	ORPHA:60033
HP:0005374	Cellular immunodeficiency	50485	SMARCAL1	ORPHA:1830
HP:0005374	Cellular immunodeficiency	80144	FRAS1	OMIM:219000
HP:0005374	Cellular immunodeficiency	8456	FOXN1	OMIM:601705
HP:0005374	Cellular immunodeficiency	472	ATM	ORPHA:100
HP:0005374	Cellular immunodeficiency	10483	SEC23B	ORPHA:201
HP:0005374	Cellular immunodeficiency	5728	PTEN	ORPHA:201
HP:0005374	Cellular immunodeficiency	6390	SDHB	ORPHA:201
HP:0005374	Cellular immunodeficiency	6392	SDHD	ORPHA:201
HP:0005374	Cellular immunodeficiency	6391	SDHC	ORPHA:201
HP:0005374	Cellular immunodeficiency	207	AKT1	ORPHA:201
HP:0005374	Cellular immunodeficiency	205717	USF3	ORPHA:201
HP:0005374	Cellular immunodeficiency	5290	PIK3CA	ORPHA:201
HP:0005374	Cellular immunodeficiency	100144748	KLLN	ORPHA:201
HP:0005374	Cellular immunodeficiency	54	ACP5	OMIM:607944
HP:0005374	Cellular immunodeficiency	1387	CREBBP	ORPHA:353281
HP:0005374	Cellular immunodeficiency	1387	CREBBP	ORPHA:353277
HP:0005374	Cellular immunodeficiency	80169	CTC1	ORPHA:1775
HP:0005374	Cellular immunodeficiency	26277	TINF2	ORPHA:1775
HP:0005374	Cellular immunodeficiency	55651	NHP2	ORPHA:1775
HP:0005374	Cellular immunodeficiency	79650	USB1	ORPHA:1775
HP:0005374	Cellular immunodeficiency	55135	WRAP53	ORPHA:1775
HP:0005374	Cellular immunodeficiency	51750	RTEL1	ORPHA:1775
HP:0005374	Cellular immunodeficiency	4869	NPM1	ORPHA:1775
HP:0005374	Cellular immunodeficiency	7012	TERC	ORPHA:1775
HP:0005374	Cellular immunodeficiency	55505	NOP10	ORPHA:1775
HP:0005374	Cellular immunodeficiency	5073	PARN	ORPHA:1775
HP:0005374	Cellular immunodeficiency	7015	TERT	ORPHA:1775
HP:0005374	Cellular immunodeficiency	1736	DKC1	ORPHA:1775
HP:0005374	Cellular immunodeficiency	7298	TYMS	ORPHA:1775
HP:0005374	Cellular immunodeficiency	6023	RMRP	OMIM:250250
HP:0005374	Cellular immunodeficiency	6905	TBCE	ORPHA:2323
HP:0005374	Cellular immunodeficiency	3070	HELLS	ORPHA:2268
HP:0005374	Cellular immunodeficiency	1789	DNMT3B	ORPHA:2268
HP:0005374	Cellular immunodeficiency	83879	CDCA7	ORPHA:2268
HP:0005374	Cellular immunodeficiency	9841	ZBTB24	ORPHA:2268
HP:0005374	Cellular immunodeficiency	2033	EP300	ORPHA:353284
HP:0005374	Cellular immunodeficiency	57724	EPG5	ORPHA:1493
HP:0005374	Cellular immunodeficiency	204	AK2	ORPHA:33355
HP:0005372	Abnormality of B cell physiology	83737	ITCH	OMIM:613385
HP:0005372	Abnormality of B cell physiology	3117	HLA-DQA1	OMIM:212750
HP:0005372	Abnormality of B cell physiology	3119	HLA-DQB1	OMIM:212750
HP:0005372	Abnormality of B cell physiology	2475	MTOR	ORPHA:457485
HP:0005372	Abnormality of B cell physiology	2475	MTOR	OMIM:616638
HP:0005372	Abnormality of B cell physiology	284119	CAVIN1	OMIM:613327
HP:0005372	Abnormality of B cell physiology	57511	COG6	OMIM:614576
HP:0005372	Abnormality of B cell physiology	84061	MAGT1	OMIM:300853
HP:0005372	Abnormality of B cell physiology	51604	PIGT	ORPHA:369837
HP:0005372	Abnormality of B cell physiology	5336	PLCG2	OMIM:614878
HP:0005372	Abnormality of B cell physiology	28956	LAMTOR2	OMIM:610798
HP:0005372	Abnormality of B cell physiology	23387	SIK3	OMIM:618162
HP:0005372	Abnormality of B cell physiology	5426	POLE	OMIM:615139
HP:0005372	Abnormality of B cell physiology	4683	NBN	OMIM:251260
HP:0005372	Abnormality of B cell physiology	6499	SKIC2	ORPHA:84064
HP:0005372	Abnormality of B cell physiology	833	CARS1	ORPHA:33364
HP:0005372	Abnormality of B cell physiology	136647	MPLKIP	ORPHA:33364
HP:0005372	Abnormality of B cell physiology	6897	TARS1	ORPHA:33364
HP:0005372	Abnormality of B cell physiology	2071	ERCC3	ORPHA:33364
HP:0005372	Abnormality of B cell physiology	2961	GTF2E2	ORPHA:33364
HP:0005372	Abnormality of B cell physiology	64170	CARD9	OMIM:212050
HP:0005372	Abnormality of B cell physiology	7454	WAS	OMIM:301000
HP:0005372	Abnormality of B cell physiology	7454	WAS	OMIM:313900
HP:0005372	Abnormality of B cell physiology	1041	CDSN	ORPHA:90368
HP:0005372	Abnormality of B cell physiology	1041	CDSN	OMIM:270300
HP:0005372	Abnormality of B cell physiology	121391	KRT74	ORPHA:90368
HP:0005372	Abnormality of B cell physiology	6777	STAT5B	OMIM:618985
HP:0005372	Abnormality of B cell physiology	50943	FOXP3	OMIM:304790
HP:0005372	Abnormality of B cell physiology	50943	FOXP3	ORPHA:37042
HP:0005372	Abnormality of B cell physiology	3857	KRT9	OMIM:144200
HP:0005372	Abnormality of B cell physiology	6774	STAT3	OMIM:147060
HP:0005372	Abnormality of B cell physiology	6774	STAT3	ORPHA:2314
HP:0005372	Abnormality of B cell physiology	1294	COL7A1	ORPHA:89843
HP:0005372	Abnormality of B cell physiology	7297	TYK2	OMIM:611521
HP:0005372	Abnormality of B cell physiology	51135	IRAK4	OMIM:607676
HP:0005372	Abnormality of B cell physiology	84905	ZNF341	OMIM:618282
HP:0005372	Abnormality of B cell physiology	2239	GPC4	ORPHA:373
HP:0005372	Abnormality of B cell physiology	2719	GPC3	ORPHA:373
HP:0005372	Abnormality of B cell physiology	7941	PLA2G7	OMIM:147050
HP:0005372	Abnormality of B cell physiology	50615	IL21R	OMIM:147050
HP:0005372	Abnormality of B cell physiology	3566	IL4R	OMIM:147050
HP:0005372	Abnormality of B cell physiology	2206	MS4A2	OMIM:147050
HP:0005372	Abnormality of B cell physiology	1956	EGFR	OMIM:616069
HP:0005372	Abnormality of B cell physiology	84433	CARD11	OMIM:617638
HP:0005372	Abnormality of B cell physiology	6868	ADAM17	OMIM:614328
HP:0005372	Abnormality of B cell physiology	56160	NSMCE3	OMIM:617241
HP:0005372	Abnormality of B cell physiology	1828	DSG1	OMIM:615508
HP:0005372	Abnormality of B cell physiology	3559	IL2RA	OMIM:606367
HP:0005372	Abnormality of B cell physiology	3071	NCKAP1L	OMIM:618982
HP:0005372	Abnormality of B cell physiology	595	CCND1	ORPHA:29073
HP:0005372	Abnormality of B cell physiology	29775	CARD10	OMIM:619632
HP:0005372	Abnormality of B cell physiology	51371	POMP	OMIM:618048
HP:0005372	Abnormality of B cell physiology	10526	IPO8	OMIM:619472
HP:0005372	Abnormality of B cell physiology	5238	PGM3	ORPHA:443811
HP:0005372	Abnormality of B cell physiology	5238	PGM3	OMIM:615816
HP:0005372	Abnormality of B cell physiology	340061	STING1	OMIM:615934
HP:0005372	Abnormality of B cell physiology	3575	IL7R	ORPHA:169154
HP:0005372	Abnormality of B cell physiology	81704	DOCK8	OMIM:243700
HP:0005372	Abnormality of B cell physiology	7040	TGFB1	OMIM:618213
HP:0005372	Abnormality of B cell physiology	7174	TPP2	OMIM:619220
HP:0005372	Abnormality of B cell physiology	22861	NLRP1	OMIM:617388
HP:0005372	Abnormality of B cell physiology	3560	IL2RB	OMIM:618495
HP:0005372	Abnormality of B cell physiology	3459	IFNGR1	OMIM:209950
HP:0005372	Abnormality of B cell physiology	5696	PSMB8	OMIM:256040
HP:0005372	Abnormality of B cell physiology	404672	GTF2H5	OMIM:616395
HP:0005372	Abnormality of B cell physiology	2859	GPR35	ORPHA:171
HP:0005372	Abnormality of B cell physiology	10507	SEMA4D	ORPHA:171
HP:0005372	Abnormality of B cell physiology	4485	MST1	ORPHA:171
HP:0005372	Abnormality of B cell physiology	6925	TCF4	ORPHA:171
HP:0005372	Abnormality of B cell physiology	200942	KLHDC8B	OMIM:236000
HP:0005372	Abnormality of B cell physiology	90268	OTULIN	OMIM:617099
HP:0005372	Abnormality of B cell physiology	3594	IL12RB1	ORPHA:186
HP:0005372	Abnormality of B cell physiology	23534	TNPO3	ORPHA:186
HP:0005372	Abnormality of B cell physiology	3592	IL12A	ORPHA:186
HP:0005372	Abnormality of B cell physiology	6689	SPIB	ORPHA:186
HP:0005372	Abnormality of B cell physiology	5450	POU2AF1	ORPHA:186
HP:0005372	Abnormality of B cell physiology	9966	TNFSF15	ORPHA:186
HP:0005372	Abnormality of B cell physiology	79258	MMEL1	ORPHA:186
HP:0005372	Abnormality of B cell physiology	3663	IRF5	ORPHA:186
HP:0005372	Abnormality of B cell physiology	10159	ATP6AP2	OMIM:301045
HP:0005372	Abnormality of B cell physiology	83483	PLVAP	OMIM:618183
HP:0005372	Abnormality of B cell physiology	51750	RTEL1	OMIM:615190
HP:0005372	Abnormality of B cell physiology	3551	IKBKB	OMIM:615592
HP:0005372	Abnormality of B cell physiology	5728	PTEN	OMIM:605309
HP:0005372	Abnormality of B cell physiology	5728	PTEN	OMIM:158350
HP:0005372	Abnormality of B cell physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0005372	Abnormality of B cell physiology	8737	RIPK1	OMIM:618108
HP:0005372	Abnormality of B cell physiology	113235	SLC46A1	ORPHA:90045
HP:0005372	Abnormality of B cell physiology	2316	FLNA	ORPHA:99811
HP:0005372	Abnormality of B cell physiology	5551	PRF1	ORPHA:540
HP:0005372	Abnormality of B cell physiology	8676	STX11	ORPHA:540
HP:0005372	Abnormality of B cell physiology	201294	UNC13D	ORPHA:540
HP:0005372	Abnormality of B cell physiology	6813	STXBP2	ORPHA:540
HP:0005372	Abnormality of B cell physiology	6813	STXBP2	OMIM:613101
HP:0005372	Abnormality of B cell physiology	4522	MTHFD1	OMIM:617780
HP:0005372	Abnormality of B cell physiology	939	CD27	OMIM:615122
HP:0005372	Abnormality of B cell physiology	10525	HYOU1	OMIM:233600
HP:0005372	Abnormality of B cell physiology	4790	NFKB1	OMIM:616576
HP:0005372	Abnormality of B cell physiology	4790	NFKB1	ORPHA:1572
HP:0005372	Abnormality of B cell physiology	114803	MYSM1	OMIM:618116
HP:0005372	Abnormality of B cell physiology	79840	NHEJ1	ORPHA:169079
HP:0005372	Abnormality of B cell physiology	5994	RFXAP	ORPHA:572
HP:0005372	Abnormality of B cell physiology	4261	CIITA	ORPHA:572
HP:0005372	Abnormality of B cell physiology	5993	RFX5	ORPHA:572
HP:0005372	Abnormality of B cell physiology	8625	RFXANK	ORPHA:572
HP:0005372	Abnormality of B cell physiology	6023	RMRP	ORPHA:175
HP:0005372	Abnormality of B cell physiology	7037	TFRC	OMIM:616740
HP:0005372	Abnormality of B cell physiology	4125	MAN2B1	OMIM:248500
HP:0005372	Abnormality of B cell physiology	10111	RAD50	OMIM:613078
HP:0005372	Abnormality of B cell physiology	9839	ZEB2	ORPHA:261552
HP:0005372	Abnormality of B cell physiology	9839	ZEB2	ORPHA:261537
HP:0005372	Abnormality of B cell physiology	4478	MSN	OMIM:300988
HP:0005372	Abnormality of B cell physiology	3070	HELLS	ORPHA:2268
HP:0005372	Abnormality of B cell physiology	3070	HELLS	OMIM:616911
HP:0005372	Abnormality of B cell physiology	1789	DNMT3B	ORPHA:2268
HP:0005372	Abnormality of B cell physiology	83879	CDCA7	ORPHA:2268
HP:0005372	Abnormality of B cell physiology	83879	CDCA7	OMIM:616910
HP:0005372	Abnormality of B cell physiology	10320	IKZF1	OMIM:616873
HP:0005372	Abnormality of B cell physiology	8742	TNFSF12	ORPHA:1572
HP:0005372	Abnormality of B cell physiology	970	CD70	OMIM:618261
HP:0005372	Abnormality of B cell physiology	57217	TTC7A	OMIM:243150
HP:0005372	Abnormality of B cell physiology	51095	TRNT1	OMIM:616084
HP:0005372	Abnormality of B cell physiology	9508	ADAMTS3	ORPHA:2136
HP:0005372	Abnormality of B cell physiology	147372	CCBE1	ORPHA:2136
HP:0005372	Abnormality of B cell physiology	79633	FAT4	ORPHA:2136
HP:0005372	Abnormality of B cell physiology	3507	IGHM	OMIM:601495
HP:0005372	Abnormality of B cell physiology	493856	CISD2	OMIM:604928
HP:0005372	Abnormality of B cell physiology	8915	BCL10	OMIM:616098
HP:0005372	Abnormality of B cell physiology	4780	NFE2L2	OMIM:617744
HP:0005372	Abnormality of B cell physiology	51816	ADA2	OMIM:615688
HP:0005372	Abnormality of B cell physiology	6117	RPA1	OMIM:619767
HP:0005372	Abnormality of B cell physiology	10165	SLC25A13	ORPHA:247598
HP:0005372	Abnormality of B cell physiology	4938	OAS1	OMIM:618042
HP:0005372	Abnormality of B cell physiology	7157	TP53	OMIM:618165
HP:0005372	Abnormality of B cell physiology	9652	SKIC3	OMIM:222470
HP:0005372	Abnormality of B cell physiology	27040	LAT	OMIM:617514
HP:0005372	Abnormality of B cell physiology	9939	RBM8A	OMIM:274000
HP:0005372	Abnormality of B cell physiology	1604	CD55	OMIM:226300
HP:0005372	Abnormality of B cell physiology	3852	KRT5	ORPHA:79396
HP:0005372	Abnormality of B cell physiology	3861	KRT14	ORPHA:79396
HP:0005372	Abnormality of B cell physiology	219285	SAMD9L	ORPHA:2585
HP:0005372	Abnormality of B cell physiology	204	AK2	ORPHA:33355
HP:0005372	Abnormality of B cell physiology	2137	EXTL3	ORPHA:508533
HP:0005372	Abnormality of B cell physiology	3561	IL2RG	ORPHA:276
HP:0005372	Abnormality of B cell physiology	3561	IL2RG	OMIM:312863
HP:0005372	Abnormality of B cell physiology	3561	IL2RG	OMIM:300400
HP:0005372	Abnormality of B cell physiology	355	FAS	ORPHA:3261
HP:0005372	Abnormality of B cell physiology	356	FASLG	ORPHA:3261
HP:0005372	Abnormality of B cell physiology	5580	PRKCD	ORPHA:3261
HP:0005372	Abnormality of B cell physiology	843	CASP10	ORPHA:3261
HP:0005372	Abnormality of B cell physiology	10125	RASGRP1	ORPHA:3261
HP:0005372	Abnormality of B cell physiology	10125	RASGRP1	OMIM:618534
HP:0005372	Abnormality of B cell physiology	64421	DCLRE1C	ORPHA:275
HP:0005372	Abnormality of B cell physiology	695	BTK	OMIM:300755
HP:0005372	Abnormality of B cell physiology	10043	TOM1	OMIM:619510
HP:0005372	Abnormality of B cell physiology	3572	IL6ST	OMIM:619752
HP:0005372	Abnormality of B cell physiology	3702	ITK	OMIM:613011
HP:0005372	Abnormality of B cell physiology	115650	TNFRSF13C	OMIM:613494
HP:0005372	Abnormality of B cell physiology	115650	TNFRSF13C	OMIM:240500
HP:0005372	Abnormality of B cell physiology	5295	PIK3R1	OMIM:616005
HP:0005372	Abnormality of B cell physiology	9841	ZBTB24	OMIM:614069
HP:0005372	Abnormality of B cell physiology	5880	RAC2	OMIM:618986
HP:0005372	Abnormality of B cell physiology	5880	RAC2	OMIM:618987
HP:0005372	Abnormality of B cell physiology	3932	LCK	OMIM:615758
HP:0005372	Abnormality of B cell physiology	6948	TCN2	OMIM:275350
HP:0005372	Abnormality of B cell physiology	6948	TCN2	ORPHA:859
HP:0005372	Abnormality of B cell physiology	3570	IL6R	OMIM:618944
HP:0005372	Abnormality of B cell physiology	987	LRBA	OMIM:614700
HP:0005372	Abnormality of B cell physiology	8517	IKBKG	OMIM:301081
HP:0005372	Abnormality of B cell physiology	54440	SASH3	OMIM:301082
HP:0005372	Abnormality of B cell physiology	959	CD40LG	OMIM:308230
HP:0005372	Abnormality of B cell physiology	4796	TONSL	OMIM:271510
HP:0005372	Abnormality of B cell physiology	4247	MGAT2	ORPHA:79329
HP:0005372	Abnormality of B cell physiology	7555	CNBP	OMIM:602668
HP:0005372	Abnormality of B cell physiology	1457	CSNK2A1	OMIM:617062
HP:0005372	Abnormality of B cell physiology	57379	AICDA	OMIM:605258
HP:0005372	Abnormality of B cell physiology	374354	NHLRC2	OMIM:618278
HP:0005372	Abnormality of B cell physiology	60468	BACH2	OMIM:618394
HP:0005372	Abnormality of B cell physiology	974	CD79B	OMIM:612692
HP:0005372	Abnormality of B cell physiology	5788	PTPRC	OMIM:619924
HP:0005372	Abnormality of B cell physiology	11005	SPINK5	OMIM:256500
HP:0005372	Abnormality of B cell physiology	641	BLM	OMIM:210900
HP:0005372	Abnormality of B cell physiology	641	BLM	ORPHA:125
HP:0005372	Abnormality of B cell physiology	841	CASP8	OMIM:607271
HP:0005372	Abnormality of B cell physiology	472	ATM	OMIM:208900
HP:0005372	Abnormality of B cell physiology	59067	IL21	OMIM:615767
HP:0005372	Abnormality of B cell physiology	29760	BLNK	OMIM:613502
HP:0005372	Abnormality of B cell physiology	5294	PIK3CG	OMIM:619802
HP:0005372	Abnormality of B cell physiology	7841	MOGS	ORPHA:79330
HP:0005372	Abnormality of B cell physiology	331	XIAP	OMIM:308240
HP:0005372	Abnormality of B cell physiology	4068	SH2D1A	OMIM:308240
HP:0005372	Abnormality of B cell physiology	29851	ICOS	OMIM:607594
HP:0005372	Abnormality of B cell physiology	29851	ICOS	OMIM:240500
HP:0005372	Abnormality of B cell physiology	7298	TYMS	OMIM:620040
HP:0005372	Abnormality of B cell physiology	57724	EPG5	OMIM:242840
HP:0005372	Abnormality of B cell physiology	57724	EPG5	ORPHA:1493
HP:0005372	Abnormality of B cell physiology	915	CD3D	ORPHA:169160
HP:0005372	Abnormality of B cell physiology	916	CD3E	ORPHA:169160
HP:0005372	Abnormality of B cell physiology	919	CD247	ORPHA:169160
HP:0005372	Abnormality of B cell physiology	65082	VPS33A	ORPHA:505248
HP:0005372	Abnormality of B cell physiology	5966	REL	OMIM:619652
HP:0005372	Abnormality of B cell physiology	55687	TRMU	OMIM:613070
HP:0005372	Abnormality of B cell physiology	23495	TNFRSF13B	OMIM:240500
HP:0005372	Abnormality of B cell physiology	930	CD19	OMIM:240500
HP:0005372	Abnormality of B cell physiology	3978	LIG1	OMIM:619774
HP:0005372	Abnormality of B cell physiology	6651	SON	ORPHA:500150
HP:0005372	Abnormality of B cell physiology	1493	CTLA4	OMIM:616100
HP:0005372	Abnormality of B cell physiology	4791	NFKB2	OMIM:615577
HP:0005372	Abnormality of B cell physiology	7852	CXCR4	OMIM:193670
HP:0005372	Abnormality of B cell physiology	5896	RAG1	ORPHA:331206
HP:0005372	Abnormality of B cell physiology	5896	RAG1	OMIM:233650
HP:0005372	Abnormality of B cell physiology	5897	RAG2	ORPHA:331206
HP:0005372	Abnormality of B cell physiology	5897	RAG2	OMIM:233650
HP:0005372	Abnormality of B cell physiology	8792	TNFRSF11A	OMIM:612301
HP:0005372	Abnormality of B cell physiology	5557	PRIM1	OMIM:620005
HP:0005372	Abnormality of B cell physiology	3431	SP110	OMIM:235550
HP:0005372	Abnormality of B cell physiology	79087	ALG12	OMIM:607143
HP:0005372	Abnormality of B cell physiology	51311	TLR8	OMIM:301078
HP:0005372	Abnormality of B cell physiology	2068	ERCC2	OMIM:601675
HP:0005372	Abnormality of B cell physiology	7374	UNG	OMIM:608106
HP:0005372	Abnormality of B cell physiology	958	CD40	OMIM:606843
HP:0005372	Abnormality of B cell physiology	567	B2M	OMIM:241600
HP:0005372	Abnormality of B cell physiology	8884	SLC5A6	OMIM:618973
HP:0005372	Abnormality of B cell physiology	96459	FNIP1	OMIM:619705
HP:0005372	Abnormality of B cell physiology	359948	IRF2BP2	OMIM:617765
HP:0005372	Abnormality of B cell physiology	6688	SPI1	OMIM:619707
HP:0005372	Abnormality of B cell physiology	9138	ARHGEF1	OMIM:618459
HP:0005372	Abnormality of B cell physiology	84888	SPPL2A	OMIM:619549
HP:0005372	Abnormality of B cell physiology	6929	TCF3	OMIM:619824
HP:0005372	Abnormality of B cell physiology	165918	RNF168	OMIM:611943
HP:0005372	Abnormality of B cell physiology	165918	RNF168	ORPHA:420741
HP:0005372	Abnormality of B cell physiology	8883	NAE1	OMIM:620210
HP:0005372	Abnormality of B cell physiology	5373	PMM2	OMIM:212065
HP:0005372	Abnormality of B cell physiology	7922	SLC39A7	OMIM:619693
HP:0005372	Abnormality of B cell physiology	1678	TIMM8A	ORPHA:52368
HP:0005372	Abnormality of B cell physiology	973	CD79A	OMIM:613501
HP:0005372	Abnormality of B cell physiology	973	CD79A	ORPHA:33110
HP:0005372	Abnormality of B cell physiology	3543	IGLL1	OMIM:613500
HP:0005372	Abnormality of B cell physiology	3543	IGLL1	ORPHA:33110
HP:0005372	Abnormality of B cell physiology	56262	LRRC8A	OMIM:613506
HP:0005372	Abnormality of B cell physiology	56262	LRRC8A	ORPHA:33110
HP:0005372	Abnormality of B cell physiology	4860	PNP	OMIM:613179
HP:0005372	Abnormality of B cell physiology	3718	JAK3	OMIM:600802
HP:0005372	Abnormality of B cell physiology	100	ADA	OMIM:102700
HP:0005372	Abnormality of B cell physiology	56259	CTNNBL1	OMIM:619846
HP:0005372	Abnormality of B cell physiology	4615	MYD88	ORPHA:33226
HP:0005372	Abnormality of B cell physiology	4615	MYD88	OMIM:153600
HP:0005372	Abnormality of B cell physiology	84876	ORAI1	OMIM:612782
HP:0005372	Abnormality of B cell physiology	6786	STIM1	OMIM:612783
HP:0005372	Abnormality of B cell physiology	940	CD28	ORPHA:3162
HP:0005372	Abnormality of B cell physiology	7133	TNFRSF1B	ORPHA:3162
HP:0005372	Abnormality of B cell physiology	50485	SMARCAL1	OMIM:242900
HP:0005372	Abnormality of B cell physiology	6729	SRP54	OMIM:618752
HP:0005372	Abnormality of B cell physiology	9056	SLC7A7	ORPHA:470
HP:0005372	Abnormality of B cell physiology	213	ALB	ORPHA:86816
HP:0005372	Abnormality of B cell physiology	3845	KRAS	OMIM:614470
HP:0005372	Abnormality of B cell physiology	4893	NRAS	OMIM:614470
HP:0005372	Abnormality of B cell physiology	6440	SFTPC	OMIM:178500
HP:0005372	Abnormality of B cell physiology	727897	MUC5B	OMIM:178500
HP:0005372	Abnormality of B cell physiology	729238	SFTPA2	OMIM:178500
HP:0005372	Abnormality of B cell physiology	7015	TERT	OMIM:178500
HP:0005372	Abnormality of B cell physiology	11311	VPS45	OMIM:615285
HP:0005372	Abnormality of B cell physiology	5184	PEPD	OMIM:170100
HP:0005372	Abnormality of B cell physiology	1277	COL1A1	ORPHA:1310
HP:0005372	Abnormality of B cell physiology	3123	HLA-DRB1	OMIM:181000
HP:0005372	Abnormality of B cell physiology	5692	PSMB4	OMIM:617591
HP:0005372	Abnormality of B cell physiology	5698	PSMB9	OMIM:617591
HP:0005372	Abnormality of B cell physiology	2629	GBA1	ORPHA:77261
HP:0005372	Abnormality of B cell physiology	2629	GBA1	ORPHA:77259
HP:0005372	Abnormality of B cell physiology	9051	PSTPIP1	ORPHA:69126
HP:0005372	Abnormality of B cell physiology	23064	SETX	OMIM:606002
HP:0005372	Abnormality of B cell physiology	1991	ELANE	OMIM:202700
HP:0005372	Abnormality of B cell physiology	950	SCARB2	ORPHA:77259
HP:0005372	Abnormality of B cell physiology	975	CD81	OMIM:613496
HP:0005372	Abnormality of B cell physiology	1503	CTPS1	OMIM:615897
HP:0005372	Abnormality of B cell physiology	7535	ZAP70	OMIM:617006
HP:0005372	Abnormality of B cell physiology	5293	PIK3CD	OMIM:615513
HP:0005372	Abnormality of B cell physiology	3514	IGKC	ORPHA:183675
HP:0005372	Abnormality of B cell physiology	3501	IGHG2	ORPHA:183675
HP:0005372	Abnormality of B cell physiology	3981	LIG4	OMIM:254500
HP:0005372	Abnormality of B cell physiology	6850	SYK	OMIM:619381
HP:0005372	Abnormality of B cell physiology	10625	IVNS1ABP	OMIM:618969
HP:0005372	Abnormality of B cell physiology	537	ATP6AP1	OMIM:300972
HP:0005372	Abnormality of B cell physiology	90417	KNSTRN	ORPHA:221139
HP:0005372	Abnormality of B cell physiology	931	MS4A1	OMIM:613495
HP:0005372	Abnormality of B cell physiology	64135	IFIH1	OMIM:619773
HP:0005372	Abnormality of B cell physiology	30011	SH3KBP1	OMIM:300310
HP:0005372	Abnormality of B cell physiology	146206	CARMIL2	OMIM:618131
HP:0005372	Abnormality of B cell physiology	917	CD3G	OMIM:615607
HP:0005372	Abnormality of B cell physiology	7737	RNF113A	OMIM:300953
HP:0005372	Abnormality of B cell physiology	1380	CR2	OMIM:614699
HP:0005372	Abnormality of B cell physiology	6773	STAT2	OMIM:616636
HP:0005372	Abnormality of B cell physiology	3394	IRF8	OMIM:226990
HP:0005372	Abnormality of B cell physiology	4598	MVK	OMIM:260920
HP:0005372	Abnormality of B cell physiology	4598	MVK	OMIM:610377
HP:0005372	Abnormality of B cell physiology	55343	SLC35C1	ORPHA:99843
HP:0005372	Abnormality of B cell physiology	10892	MALT1	OMIM:615468
HP:0005372	Abnormality of B cell physiology	11151	CORO1A	OMIM:615401
HP:0005419	Decreased T cell activation	57724	EPG5	OMIM:242840
HP:0005419	Decreased T cell activation	841	CASP8	OMIM:607271
HP:0005419	Decreased T cell activation	3953	LEPR	ORPHA:179494
HP:0005419	Decreased T cell activation	3952	LEP	ORPHA:66628
HP:0005419	Decreased T cell activation	100151683	RNU4ATAC	ORPHA:353298
HP:0005419	Decreased T cell activation	84061	MAGT1	OMIM:300853
HP:0005419	Decreased T cell activation	7040	TGFB1	OMIM:618213
HP:0005419	Decreased T cell activation	959	CD40LG	OMIM:308230
HP:0005419	Decreased T cell activation	146206	CARMIL2	OMIM:618131
HP:0031233	Horizontal inferior border of scapula	100	ADA	OMIM:102700
HP:0031233	Horizontal inferior border of scapula	54808	DYM	ORPHA:239
HP:0031233	Horizontal inferior border of scapula	2879	GPX4	OMIM:250220
HP:0031234	Neutrophilic infiltration of the skin	7317	UBA1	OMIM:301054
HP:0031234	Neutrophilic infiltration of the skin	51371	POMP	OMIM:618048
HP:0031234	Neutrophilic infiltration of the skin	3939	LDHA	ORPHA:284426
HP:0031234	Neutrophilic infiltration of the skin	4210	MEFV	ORPHA:3243
HP:0031236	Predominantly dermal neutrophilic infiltrate	3939	LDHA	ORPHA:284426
HP:0031236	Predominantly dermal neutrophilic infiltrate	4210	MEFV	ORPHA:3243
HP:0031237	Internally nucleated skeletal muscle fibers	3908	LAMA2	OMIM:618138
HP:0031237	Internally nucleated skeletal muscle fibers	88	ACTN2	OMIM:618655
HP:0031237	Internally nucleated skeletal muscle fibers	88	ACTN2	OMIM:618654
HP:0031237	Internally nucleated skeletal muscle fibers	6261	RYR1	ORPHA:98905
HP:0031237	Internally nucleated skeletal muscle fibers	6261	RYR1	ORPHA:324581
HP:0031237	Internally nucleated skeletal muscle fibers	7273	TTN	ORPHA:178464
HP:0031237	Internally nucleated skeletal muscle fibers	8878	SQSTM1	OMIM:617158
HP:0031237	Internally nucleated skeletal muscle fibers	100996717	NOTCH2NLC	OMIM:619473
HP:0031237	Internally nucleated skeletal muscle fibers	203859	ANO5	ORPHA:206549
HP:0031238	Necklace skeletal muscle fibers	4534	MTM1	ORPHA:596
HP:0100335	Non-midline cleft lip	9968	MED12	OMIM:301068
HP:0100335	Non-midline cleft lip	2736	GLI2	OMIM:610829
HP:0100335	Non-midline cleft lip	10413	YAP1	ORPHA:1473
HP:0100335	Non-midline cleft lip	1147	CHUK	OMIM:619339
HP:0100335	Non-midline cleft lip	8405	SPOP	OMIM:618829
HP:0100335	Non-midline cleft lip	6496	SIX3	OMIM:157170
HP:0100335	Non-midline cleft lip	1500	CTNND1	ORPHA:1997
HP:0100335	Non-midline cleft lip	999	CDH1	ORPHA:1997
HP:0100335	Non-midline cleft lip	4281	MID1	OMIM:300000
HP:0100335	Non-midline cleft lip	10524	KAT5	OMIM:619103
HP:0100335	Non-midline cleft lip	10220	GDF11	OMIM:619122
HP:0100335	Non-midline cleft lip	202018	TAPT1	OMIM:616897
HP:0100335	Non-midline cleft lip	219844	HYLS1	ORPHA:2189
HP:0100335	Non-midline cleft lip	374654	KIF7	ORPHA:2189
HP:0100335	Non-midline cleft lip	7341	SUMO1	OMIM:613705
HP:0100335	Non-midline cleft lip	4089	SMAD4	ORPHA:2588
HP:0100335	Non-midline cleft lip	23556	PIGN	ORPHA:2059
HP:0100335	Non-midline cleft lip	5979	RET	ORPHA:1848
HP:0100335	Non-midline cleft lip	8516	ITGA8	ORPHA:1848
HP:0100335	Non-midline cleft lip	26281	FGF20	ORPHA:1848
HP:0100335	Non-midline cleft lip	2674	GFRA1	ORPHA:1848
HP:0100335	Non-midline cleft lip	7484	WNT9B	ORPHA:1848
HP:0100335	Non-midline cleft lip	80000	GREB1L	ORPHA:1848
HP:0100335	Non-midline cleft lip	4683	NBN	ORPHA:647
HP:0100335	Non-midline cleft lip	2697	GJA1	ORPHA:2710
HP:0100335	Non-midline cleft lip	3239	HOXD13	ORPHA:887
HP:0100335	Non-midline cleft lip	2260	FGFR1	ORPHA:2117
HP:0100335	Non-midline cleft lip	1723	DHODH	ORPHA:246
HP:0100335	Non-midline cleft lip	10262	SF3B4	ORPHA:245
HP:0100335	Non-midline cleft lip	83479	DDX59	ORPHA:2919
HP:0100335	Non-midline cleft lip	126792	B3GALT6	ORPHA:2725
HP:0100335	Non-midline cleft lip	7020	TFAP2A	ORPHA:1297
HP:0100335	Non-midline cleft lip	1748	DLX4	OMIM:616788
HP:0100335	Non-midline cleft lip	4487	MSX1	ORPHA:199302
HP:0100335	Non-midline cleft lip	5818	NECTIN1	ORPHA:199302
HP:0100335	Non-midline cleft lip	8626	TP63	ORPHA:199302
HP:0100335	Non-midline cleft lip	3664	IRF6	ORPHA:199302
HP:0100335	Non-midline cleft lip	5727	PTCH1	OMIM:610828
HP:0100335	Non-midline cleft lip	2535	FZD2	OMIM:164745
HP:0100335	Non-midline cleft lip	55969	RAB5IF	OMIM:616994
HP:0100335	Non-midline cleft lip	22858	CILK1	OMIM:612651
HP:0100335	Non-midline cleft lip	55627	SMPD4	OMIM:618622
HP:0100335	Non-midline cleft lip	340419	RSPO2	OMIM:618021
HP:0100335	Non-midline cleft lip	145173	B3GLCT	OMIM:261540
HP:0100333	Unilateral cleft lip	5727	PTCH1	OMIM:610828
HP:0100333	Unilateral cleft lip	9968	MED12	OMIM:301068
HP:0100333	Unilateral cleft lip	4281	MID1	OMIM:300000
HP:0100333	Unilateral cleft lip	10524	KAT5	OMIM:619103
HP:0100333	Unilateral cleft lip	10220	GDF11	OMIM:619122
HP:0100333	Unilateral cleft lip	202018	TAPT1	OMIM:616897
HP:0100333	Unilateral cleft lip	219844	HYLS1	ORPHA:2189
HP:0100333	Unilateral cleft lip	374654	KIF7	ORPHA:2189
HP:0100333	Unilateral cleft lip	7341	SUMO1	OMIM:613705
HP:0100333	Unilateral cleft lip	4089	SMAD4	ORPHA:2588
HP:0008368	Tarsal synostosis	9496	TBX4	OMIM:147891
HP:0008368	Tarsal synostosis	2316	FLNA	OMIM:305620
HP:0008368	Tarsal synostosis	2260	FGFR1	OMIM:123150
HP:0008368	Tarsal synostosis	2263	FGFR2	OMIM:123150
HP:0008368	Tarsal synostosis	5447	POR	OMIM:201750
HP:0008368	Tarsal synostosis	5447	POR	ORPHA:95699
HP:0008368	Tarsal synostosis	22856	CHSY1	ORPHA:363417
HP:0008368	Tarsal synostosis	22856	CHSY1	OMIM:605282
HP:0008368	Tarsal synostosis	392255	GDF6	OMIM:617898
HP:0008368	Tarsal synostosis	64327	LMBR1	ORPHA:2378
HP:0008368	Tarsal synostosis	4621	MYH3	OMIM:618469
HP:0008368	Tarsal synostosis	4621	MYH3	OMIM:178110
HP:0008368	Tarsal synostosis	4621	MYH3	ORPHA:1147
HP:0008368	Tarsal synostosis	8200	GDF5	ORPHA:2098
HP:0008368	Tarsal synostosis	8200	GDF5	ORPHA:3250
HP:0008368	Tarsal synostosis	8200	GDF5	ORPHA:2639
HP:0008368	Tarsal synostosis	8200	GDF5	ORPHA:968
HP:0008368	Tarsal synostosis	8200	GDF5	OMIM:610017
HP:0008368	Tarsal synostosis	658	BMPR1B	ORPHA:2098
HP:0008368	Tarsal synostosis	658	BMPR1B	ORPHA:2639
HP:0008368	Tarsal synostosis	658	BMPR1B	OMIM:609441
HP:0008368	Tarsal synostosis	2261	FGFR3	ORPHA:53271
HP:0008368	Tarsal synostosis	9241	NOG	ORPHA:3250
HP:0008368	Tarsal synostosis	9241	NOG	OMIM:186570
HP:0008368	Tarsal synostosis	9241	NOG	OMIM:611377
HP:0008368	Tarsal synostosis	9241	NOG	OMIM:186500
HP:0008368	Tarsal synostosis	9241	NOG	ORPHA:1412
HP:0008368	Tarsal synostosis	9241	NOG	OMIM:185800
HP:0008368	Tarsal synostosis	7140	TNNT3	ORPHA:1147
HP:0008368	Tarsal synostosis	7169	TPM2	ORPHA:1147
HP:0008368	Tarsal synostosis	259232	NALCN	ORPHA:1147
HP:0008368	Tarsal synostosis	7136	TNNI2	ORPHA:1147
HP:0008368	Tarsal synostosis	8195	MKKS	ORPHA:2473
HP:0008368	Tarsal synostosis	2317	FLNB	OMIM:272460
HP:0008368	Tarsal synostosis	8481	OFD1	ORPHA:2750
HP:0008368	Tarsal synostosis	64093	SMOC1	ORPHA:1106
HP:0008368	Tarsal synostosis	538	ATP7A	ORPHA:565
HP:0008368	Tarsal synostosis	6885	MAP3K7	OMIM:157800
HP:0008368	Tarsal synostosis	2192	FBLN1	OMIM:608180
HP:0008368	Tarsal synostosis	2737	GLI3	ORPHA:93322
HP:0100336	Bilateral cleft lip	9968	MED12	OMIM:301068
HP:0100336	Bilateral cleft lip	2736	GLI2	OMIM:610829
HP:0100336	Bilateral cleft lip	10413	YAP1	ORPHA:1473
HP:0100336	Bilateral cleft lip	1147	CHUK	OMIM:619339
HP:0100336	Bilateral cleft lip	8405	SPOP	OMIM:618829
HP:0100336	Bilateral cleft lip	6496	SIX3	OMIM:157170
HP:0100336	Bilateral cleft lip	1500	CTNND1	ORPHA:1997
HP:0100336	Bilateral cleft lip	999	CDH1	ORPHA:1997
HP:0100336	Bilateral cleft lip	1748	DLX4	OMIM:616788
HP:0100336	Bilateral cleft lip	4487	MSX1	ORPHA:199302
HP:0100336	Bilateral cleft lip	5818	NECTIN1	ORPHA:199302
HP:0100336	Bilateral cleft lip	8626	TP63	ORPHA:199302
HP:0100336	Bilateral cleft lip	3664	IRF6	ORPHA:199302
HP:0100336	Bilateral cleft lip	5727	PTCH1	OMIM:610828
HP:0100336	Bilateral cleft lip	2535	FZD2	OMIM:164745
HP:0100336	Bilateral cleft lip	55969	RAB5IF	OMIM:616994
HP:0100336	Bilateral cleft lip	22858	CILK1	OMIM:612651
HP:0100336	Bilateral cleft lip	55627	SMPD4	OMIM:618622
HP:0100336	Bilateral cleft lip	340419	RSPO2	OMIM:618021
HP:0100336	Bilateral cleft lip	145173	B3GLCT	OMIM:261540
HP:0100337	Bilateral cleft palate	9968	MED12	OMIM:301068
HP:0100337	Bilateral cleft palate	2736	GLI2	OMIM:610829
HP:0100337	Bilateral cleft palate	10413	YAP1	ORPHA:1473
HP:0100337	Bilateral cleft palate	1147	CHUK	OMIM:619339
HP:0100337	Bilateral cleft palate	8405	SPOP	OMIM:618829
HP:0100337	Bilateral cleft palate	6496	SIX3	OMIM:157170
HP:0100337	Bilateral cleft palate	1500	CTNND1	ORPHA:1997
HP:0100337	Bilateral cleft palate	1748	DLX4	OMIM:616788
HP:0100337	Bilateral cleft palate	1748	DLX4	ORPHA:199306
HP:0100337	Bilateral cleft palate	5727	PTCH1	OMIM:610828
HP:0100337	Bilateral cleft palate	1836	SLC26A2	ORPHA:56304
HP:0100337	Bilateral cleft palate	6154	RPL26	OMIM:614900
HP:0100337	Bilateral cleft palate	171023	ASXL1	OMIM:605039
HP:0100337	Bilateral cleft palate	4487	MSX1	ORPHA:199306
HP:0100337	Bilateral cleft palate	5818	NECTIN1	ORPHA:199306
HP:0100337	Bilateral cleft palate	1739	DLG1	ORPHA:199306
HP:0100337	Bilateral cleft palate	652	BMP4	ORPHA:199306
HP:0100337	Bilateral cleft palate	8626	TP63	ORPHA:199306
HP:0100337	Bilateral cleft palate	999	CDH1	ORPHA:199306
HP:0100337	Bilateral cleft palate	5156	PDGFRA	ORPHA:199306
HP:0100337	Bilateral cleft palate	3664	IRF6	ORPHA:199306
HP:0100337	Bilateral cleft palate	9411	ARHGAP29	ORPHA:199306
HP:0100334	Unilateral cleft palate	5727	PTCH1	OMIM:610828
HP:0100334	Unilateral cleft palate	9968	MED12	OMIM:301068
HP:0100334	Unilateral cleft palate	1009	CDH11	ORPHA:1299
HP:0100334	Unilateral cleft palate	171023	ASXL1	OMIM:605039
HP:0100334	Unilateral cleft palate	10524	KAT5	OMIM:619103
HP:0100334	Unilateral cleft palate	7341	SUMO1	OMIM:613705
HP:0100334	Unilateral cleft palate	4487	MSX1	ORPHA:199306
HP:0100334	Unilateral cleft palate	5818	NECTIN1	ORPHA:199306
HP:0100334	Unilateral cleft palate	1739	DLG1	ORPHA:199306
HP:0100334	Unilateral cleft palate	652	BMP4	ORPHA:199306
HP:0100334	Unilateral cleft palate	8626	TP63	ORPHA:199306
HP:0100334	Unilateral cleft palate	999	CDH1	ORPHA:199306
HP:0100334	Unilateral cleft palate	5156	PDGFRA	ORPHA:199306
HP:0100334	Unilateral cleft palate	3664	IRF6	ORPHA:199306
HP:0100334	Unilateral cleft palate	9411	ARHGAP29	ORPHA:199306
HP:0100334	Unilateral cleft palate	1748	DLX4	ORPHA:199306
HP:0100334	Unilateral cleft palate	10220	GDF11	OMIM:619122
HP:0100338	Non-midline cleft palate	2736	GLI2	OMIM:610829
HP:0100338	Non-midline cleft palate	10413	YAP1	ORPHA:1473
HP:0100338	Non-midline cleft palate	1147	CHUK	OMIM:619339
HP:0100338	Non-midline cleft palate	8405	SPOP	OMIM:618829
HP:0100338	Non-midline cleft palate	6496	SIX3	OMIM:157170
HP:0100338	Non-midline cleft palate	1500	CTNND1	ORPHA:1997
HP:0100338	Non-midline cleft palate	9968	MED12	OMIM:301068
HP:0100338	Non-midline cleft palate	1009	CDH11	ORPHA:1299
HP:0100338	Non-midline cleft palate	10524	KAT5	OMIM:619103
HP:0100338	Non-midline cleft palate	7341	SUMO1	OMIM:613705
HP:0100338	Non-midline cleft palate	10220	GDF11	OMIM:619122
HP:0100338	Non-midline cleft palate	1748	DLX4	OMIM:616788
HP:0100338	Non-midline cleft palate	1748	DLX4	ORPHA:199306
HP:0100338	Non-midline cleft palate	5727	PTCH1	OMIM:610828
HP:0100338	Non-midline cleft palate	1836	SLC26A2	ORPHA:56304
HP:0100338	Non-midline cleft palate	6154	RPL26	OMIM:614900
HP:0100338	Non-midline cleft palate	171023	ASXL1	OMIM:605039
HP:0100338	Non-midline cleft palate	4487	MSX1	ORPHA:199306
HP:0100338	Non-midline cleft palate	5818	NECTIN1	ORPHA:199306
HP:0100338	Non-midline cleft palate	1739	DLG1	ORPHA:199306
HP:0100338	Non-midline cleft palate	652	BMP4	ORPHA:199306
HP:0100338	Non-midline cleft palate	8626	TP63	ORPHA:199306
HP:0100338	Non-midline cleft palate	999	CDH1	ORPHA:199306
HP:0100338	Non-midline cleft palate	5156	PDGFRA	ORPHA:199306
HP:0100338	Non-midline cleft palate	3664	IRF6	ORPHA:199306
HP:0100338	Non-midline cleft palate	9411	ARHGAP29	ORPHA:199306
HP:0005389	Depletion of components of the alternative complement pathway	3075	CFH	OMIM:609814
HP:0005387	Combined immunodeficiency	2137	EXTL3	ORPHA:508533
HP:0005387	Combined immunodeficiency	2137	EXTL3	OMIM:617425
HP:0005387	Combined immunodeficiency	4860	PNP	ORPHA:760
HP:0005387	Combined immunodeficiency	4522	MTHFD1	OMIM:617780
HP:0005387	Combined immunodeficiency	3718	JAK3	OMIM:600802
HP:0005387	Combined immunodeficiency	57217	TTC7A	OMIM:243150
HP:0005387	Combined immunodeficiency	57217	TTC7A	ORPHA:436252
HP:0005387	Combined immunodeficiency	100	ADA	OMIM:102700
HP:0005387	Combined immunodeficiency	100	ADA	ORPHA:39041
HP:0005387	Combined immunodeficiency	64919	BCL11B	OMIM:617237
HP:0005387	Combined immunodeficiency	5591	PRKDC	OMIM:615966
HP:0005387	Combined immunodeficiency	5238	PGM3	ORPHA:443811
HP:0005387	Combined immunodeficiency	5297	PI4KA	ORPHA:436252
HP:0005387	Combined immunodeficiency	7518	XRCC4	ORPHA:99812
HP:0005387	Combined immunodeficiency	3981	LIG4	ORPHA:99812
HP:0005387	Combined immunodeficiency	3981	LIG4	ORPHA:39041
HP:0005387	Combined immunodeficiency	6023	RMRP	ORPHA:39041
HP:0005387	Combined immunodeficiency	55636	CHD7	ORPHA:39041
HP:0005387	Combined immunodeficiency	64421	DCLRE1C	ORPHA:39041
HP:0005387	Combined immunodeficiency	64421	DCLRE1C	OMIM:602450
HP:0005387	Combined immunodeficiency	3575	IL7R	ORPHA:39041
HP:0005387	Combined immunodeficiency	3575	IL7R	OMIM:608971
HP:0005387	Combined immunodeficiency	915	CD3D	OMIM:615617
HP:0005387	Combined immunodeficiency	4247	MGAT2	ORPHA:79329
HP:0005387	Combined immunodeficiency	54	ACP5	OMIM:607944
HP:0005387	Combined immunodeficiency	23495	TNFRSF13B	OMIM:240500
HP:0005387	Combined immunodeficiency	115650	TNFRSF13C	OMIM:240500
HP:0005387	Combined immunodeficiency	115650	TNFRSF13C	OMIM:613494
HP:0005387	Combined immunodeficiency	1380	CR2	OMIM:240500
HP:0005387	Combined immunodeficiency	29851	ICOS	OMIM:240500
HP:0005387	Combined immunodeficiency	930	CD19	OMIM:240500
HP:0005387	Combined immunodeficiency	930	CD19	OMIM:613493
HP:0005387	Combined immunodeficiency	931	MS4A1	OMIM:613495
HP:0005387	Combined immunodeficiency	204	AK2	OMIM:267500
HP:0005387	Combined immunodeficiency	4791	NFKB2	OMIM:615577
HP:0005387	Combined immunodeficiency	359948	IRF2BP2	OMIM:617765
HP:0005387	Combined immunodeficiency	4790	NFKB1	OMIM:616576
HP:0005387	Combined immunodeficiency	1794	DOCK2	OMIM:616433
HP:0005387	Combined immunodeficiency	10320	IKZF1	OMIM:616873
HP:0005387	Combined immunodeficiency	3561	IL2RG	OMIM:312863
HP:0005387	Combined immunodeficiency	5896	RAG1	OMIM:233650
HP:0005387	Combined immunodeficiency	5897	RAG2	OMIM:233650
HP:0005387	Combined immunodeficiency	5293	PIK3CD	ORPHA:221139
HP:0005387	Combined immunodeficiency	90417	KNSTRN	ORPHA:221139
HP:0005387	Combined immunodeficiency	701	BUB1B	OMIM:257300
HP:0005386	Recurrent protozoan infections	4261	CIITA	OMIM:209920
HP:0005386	Recurrent protozoan infections	4261	CIITA	ORPHA:572
HP:0005386	Recurrent protozoan infections	5994	RFXAP	OMIM:209920
HP:0005386	Recurrent protozoan infections	5994	RFXAP	ORPHA:572
HP:0005386	Recurrent protozoan infections	5993	RFX5	OMIM:209920
HP:0005386	Recurrent protozoan infections	5993	RFX5	ORPHA:572
HP:0005386	Recurrent protozoan infections	8625	RFXANK	OMIM:209920
HP:0005386	Recurrent protozoan infections	8625	RFXANK	ORPHA:572
HP:0005386	Recurrent protozoan infections	3594	IL12RB1	ORPHA:319552
HP:0005384	Defective B cell activation	359948	IRF2BP2	OMIM:617765
HP:0005384	Defective B cell activation	472	ATM	OMIM:208900
HP:0005384	Defective B cell activation	841	CASP8	OMIM:607271
HP:0003212	Increased circulating IgE level	100	ADA	ORPHA:277
HP:0003212	Increased circulating IgE level	100	ADA	OMIM:102700
HP:0003212	Increased circulating IgE level	2137	EXTL3	ORPHA:508533
HP:0003212	Increased circulating IgE level	64170	CARD9	OMIM:212050
HP:0003212	Increased circulating IgE level	355	FAS	ORPHA:3261
HP:0003212	Increased circulating IgE level	356	FASLG	ORPHA:3261
HP:0003212	Increased circulating IgE level	5580	PRKCD	ORPHA:3261
HP:0003212	Increased circulating IgE level	843	CASP10	ORPHA:3261
HP:0003212	Increased circulating IgE level	10125	RASGRP1	ORPHA:3261
HP:0003212	Increased circulating IgE level	7454	WAS	OMIM:301000
HP:0003212	Increased circulating IgE level	7454	WAS	OMIM:313900
HP:0003212	Increased circulating IgE level	3071	NCKAP1L	OMIM:618982
HP:0003212	Increased circulating IgE level	3572	IL6ST	OMIM:619752
HP:0003212	Increased circulating IgE level	3572	IL6ST	OMIM:618523
HP:0003212	Increased circulating IgE level	29775	CARD10	OMIM:619632
HP:0003212	Increased circulating IgE level	10526	IPO8	OMIM:619472
HP:0003212	Increased circulating IgE level	1041	CDSN	ORPHA:90368
HP:0003212	Increased circulating IgE level	1041	CDSN	OMIM:270300
HP:0003212	Increased circulating IgE level	121391	KRT74	ORPHA:90368
HP:0003212	Increased circulating IgE level	6777	STAT5B	OMIM:618985
HP:0003212	Increased circulating IgE level	5238	PGM3	ORPHA:443811
HP:0003212	Increased circulating IgE level	5238	PGM3	OMIM:615816
HP:0003212	Increased circulating IgE level	3570	IL6R	OMIM:618944
HP:0003212	Increased circulating IgE level	50943	FOXP3	OMIM:304790
HP:0003212	Increased circulating IgE level	50943	FOXP3	ORPHA:37042
HP:0003212	Increased circulating IgE level	3857	KRT9	OMIM:144200
HP:0003212	Increased circulating IgE level	3575	IL7R	ORPHA:169154
HP:0003212	Increased circulating IgE level	6774	STAT3	OMIM:147060
HP:0003212	Increased circulating IgE level	6774	STAT3	ORPHA:2314
HP:0003212	Increased circulating IgE level	1294	COL7A1	ORPHA:89843
HP:0003212	Increased circulating IgE level	11005	SPINK5	OMIM:256500
HP:0003212	Increased circulating IgE level	11005	SPINK5	ORPHA:634
HP:0003212	Increased circulating IgE level	7297	TYK2	OMIM:611521
HP:0003212	Increased circulating IgE level	59067	IL21	OMIM:615767
HP:0003212	Increased circulating IgE level	51135	IRAK4	OMIM:607676
HP:0003212	Increased circulating IgE level	84905	ZNF341	OMIM:618282
HP:0003212	Increased circulating IgE level	2239	GPC4	ORPHA:373
HP:0003212	Increased circulating IgE level	2719	GPC3	ORPHA:373
HP:0003212	Increased circulating IgE level	7941	PLA2G7	OMIM:147050
HP:0003212	Increased circulating IgE level	50615	IL21R	OMIM:147050
HP:0003212	Increased circulating IgE level	3566	IL4R	OMIM:147050
HP:0003212	Increased circulating IgE level	2206	MS4A2	OMIM:147050
HP:0003212	Increased circulating IgE level	1956	EGFR	OMIM:616069
HP:0003212	Increased circulating IgE level	919	CD247	OMIM:610163
HP:0003212	Increased circulating IgE level	84433	CARD11	OMIM:617638
HP:0003212	Increased circulating IgE level	6868	ADAM17	OMIM:614328
HP:0003212	Increased circulating IgE level	64421	DCLRE1C	OMIM:602450
HP:0003212	Increased circulating IgE level	81704	DOCK8	OMIM:243700
HP:0003212	Increased circulating IgE level	81704	DOCK8	ORPHA:217390
HP:0003212	Increased circulating IgE level	56160	NSMCE3	OMIM:617241
HP:0003212	Increased circulating IgE level	7040	TGFB1	OMIM:618213
HP:0003212	Increased circulating IgE level	1828	DSG1	OMIM:615508
HP:0003212	Increased circulating IgE level	3559	IL2RA	OMIM:606367
HP:0005381	Recurrent meningococcal disease	730	C7	OMIM:610102
HP:0005381	Recurrent meningococcal disease	727	C5	OMIM:609536
HP:0005381	Recurrent meningococcal disease	729	C6	OMIM:612446
HP:0005381	Recurrent meningococcal disease	3426	CFI	OMIM:610984
HP:0005381	Recurrent meningococcal disease	4153	MBL2	OMIM:614372
HP:0005381	Recurrent meningococcal disease	629	CFB	OMIM:615561
HP:0031244	Swollen lip	7512	XPNPEP2	ORPHA:100057
HP:0031244	Swollen lip	5340	PLG	OMIM:619360
HP:0031244	Swollen lip	284	ANGPT1	OMIM:619361
HP:0031244	Swollen lip	26509	MYOF	OMIM:619366
HP:0031244	Swollen lip	64711	HS3ST6	OMIM:619367
HP:0031244	Swollen lip	3827	KNG1	OMIM:619363
HP:0031244	Swollen lip	26227	PHGDH	OMIM:256520
HP:0031245	Productive cough	25981	DNAH1	ORPHA:244
HP:0031245	Productive cough	115948	ODAD3	ORPHA:244
HP:0031245	Productive cough	54768	HYDIN	ORPHA:244
HP:0031245	Productive cough	352909	DNAAF3	ORPHA:244
HP:0031245	Productive cough	27148	STK36	ORPHA:244
HP:0031245	Productive cough	51314	NME8	ORPHA:244
HP:0031245	Productive cough	92749	DRC1	ORPHA:244
HP:0031245	Productive cough	54970	TTC12	ORPHA:244
HP:0031245	Productive cough	152110	NEK10	ORPHA:244
HP:0031245	Productive cough	8481	OFD1	ORPHA:244
HP:0031245	Productive cough	2302	FOXJ1	ORPHA:244
HP:0031245	Productive cough	2302	FOXJ1	OMIM:618699
HP:0031245	Productive cough	221421	RSPH9	ORPHA:244
HP:0031245	Productive cough	85478	CCDC65	ORPHA:244
HP:0031245	Productive cough	55036	CCDC40	ORPHA:244
HP:0031245	Productive cough	51364	ZMYND10	ORPHA:244
HP:0031245	Productive cough	64446	DNAI2	ORPHA:244
HP:0031245	Productive cough	6674	SPAG1	ORPHA:244
HP:0031245	Productive cough	83544	DNAL1	ORPHA:244
HP:0031245	Productive cough	89765	RSPH1	ORPHA:244
HP:0031245	Productive cough	83538	ODAD4	ORPHA:244
HP:0031245	Productive cough	83538	ODAD4	OMIM:617092
HP:0031245	Productive cough	200373	CFAP221	ORPHA:244
HP:0031245	Productive cough	374407	DNAJB13	ORPHA:244
HP:0031245	Productive cough	55172	DNAAF2	ORPHA:244
HP:0031245	Productive cough	161582	DNAAF4	ORPHA:244
HP:0031245	Productive cough	161582	DNAAF4	OMIM:615482
HP:0031245	Productive cough	2622	GAS8	ORPHA:244
HP:0031245	Productive cough	23639	DNAAF11	ORPHA:244
HP:0031245	Productive cough	27019	DNAI1	ORPHA:244
HP:0031245	Productive cough	345895	RSPH4A	ORPHA:244
HP:0031245	Productive cough	54919	DNAAF5	ORPHA:244
HP:0031245	Productive cough	6103	RPGR	ORPHA:244
HP:0031245	Productive cough	388389	CCDC103	ORPHA:244
HP:0031245	Productive cough	93233	ODAD1	ORPHA:244
HP:0031245	Productive cough	93233	ODAD1	OMIM:615067
HP:0031245	Productive cough	55130	ODAD2	ORPHA:244
HP:0031245	Productive cough	55130	ODAD2	OMIM:615451
HP:0031245	Productive cough	1767	DNAH5	ORPHA:244
HP:0031245	Productive cough	83861	RSPH3	ORPHA:244
HP:0031245	Productive cough	345643	MCIDAS	ORPHA:244
HP:0031245	Productive cough	56683	CFAP298	ORPHA:244
HP:0031245	Productive cough	79925	SPEF2	ORPHA:244
HP:0031245	Productive cough	10309	CCNO	ORPHA:244
HP:0031245	Productive cough	115399	LRRC56	ORPHA:244
HP:0031245	Productive cough	139212	DNAAF6	ORPHA:244
HP:0031245	Productive cough	123872	DNAAF1	ORPHA:244
HP:0031245	Productive cough	85016	CFAP300	ORPHA:244
HP:0031245	Productive cough	85016	CFAP300	OMIM:618063
HP:0031245	Productive cough	339829	CCDC39	ORPHA:244
HP:0031245	Productive cough	8701	DNAH11	ORPHA:244
HP:0031245	Productive cough	1770	DNAH9	ORPHA:244
HP:0031245	Productive cough	246176	GAS2L2	ORPHA:244
HP:0031245	Productive cough	6774	STAT3	ORPHA:520
HP:0031245	Productive cough	5371	PML	ORPHA:520
HP:0031245	Productive cough	5914	RARA	ORPHA:520
HP:0031245	Productive cough	359948	IRF2BP2	ORPHA:520
HP:0031245	Productive cough	81608	FIP1L1	ORPHA:520
HP:0031245	Productive cough	4869	NPM1	ORPHA:520
HP:0031245	Productive cough	5573	PRKAR1A	ORPHA:520
HP:0031245	Productive cough	54880	BCOR	ORPHA:520
HP:0031245	Productive cough	64859	NABP1	ORPHA:520
HP:0031245	Productive cough	6777	STAT5B	ORPHA:520
HP:0031245	Productive cough	4926	NUMA1	ORPHA:520
HP:0031245	Productive cough	7704	ZBTB16	ORPHA:520
HP:0031245	Productive cough	79718	TBL1XR1	ORPHA:520
HP:0031245	Productive cough	6340	SCNN1G	ORPHA:60033
HP:0031245	Productive cough	1080	CFTR	ORPHA:60033
HP:0031245	Productive cough	6337	SCNN1A	ORPHA:60033
HP:0031245	Productive cough	6338	SCNN1B	ORPHA:60033
HP:0031245	Productive cough	23568	ARL2BP	OMIM:615434
HP:0031246	Nonproductive cough	10568	SLC34A2	ORPHA:60025
HP:0031248	Palmar pruritus	1080	CFTR	ORPHA:498359
HP:0031248	Palmar pruritus	5205	ATP8B1	ORPHA:69665
HP:0031248	Palmar pruritus	8647	ABCB11	ORPHA:69665
HP:0031248	Palmar pruritus	5244	ABCB4	ORPHA:69665
HP:0031248	Palmar pruritus	9971	NR1H4	ORPHA:69665
HP:0100347	Tibial deviation of the 5th toe	22856	CHSY1	ORPHA:363417
HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	54880	BCOR	OMIM:300166
HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	10526	IPO8	OMIM:619472
HP:0100345	Tibial deviation of the 2nd toe	22856	CHSY1	ORPHA:363417
HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	54880	BCOR	OMIM:300166
HP:0005420	Recurrent gram-negative bacterial infections	4688	NCF2	OMIM:233710
HP:0005420	Recurrent gram-negative bacterial infections	1536	CYBB	OMIM:306400
HP:0005420	Recurrent gram-negative bacterial infections	653361	NCF1	OMIM:233700
HP:0005420	Recurrent gram-negative bacterial infections	1535	CYBA	OMIM:233690
HP:0005420	Recurrent gram-negative bacterial infections	3594	IL12RB1	ORPHA:319552
HP:0005420	Recurrent gram-negative bacterial infections	3561	IL2RG	ORPHA:276
HP:0005420	Recurrent gram-negative bacterial infections	6804	STX1A	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	2947	GSTM3	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	7040	TGFB1	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	2729	GCLC	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	1084	CEACAM3	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	6556	SLC11A1	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	51164	DCTN4	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	3783	KCNN4	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	4282	MIF	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	1909	EDNRA	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	6550	SLC9A3	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	3162	HMOX1	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	115019	SLC26A9	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	3077	HFE	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	11254	SLC6A14	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	5265	SERPINA1	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	1080	CFTR	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	1080	CFTR	ORPHA:60033
HP:0005420	Recurrent gram-negative bacterial infections	22802	CLCA4	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	4680	CEACAM6	ORPHA:586
HP:0005420	Recurrent gram-negative bacterial infections	3426	CFI	OMIM:610984
HP:0005420	Recurrent gram-negative bacterial infections	6103	RPGR	OMIM:300455
HP:0005420	Recurrent gram-negative bacterial infections	6340	SCNN1G	ORPHA:60033
HP:0005420	Recurrent gram-negative bacterial infections	6337	SCNN1A	ORPHA:60033
HP:0005420	Recurrent gram-negative bacterial infections	6338	SCNN1B	ORPHA:60033
HP:0005420	Recurrent gram-negative bacterial infections	729	C6	OMIM:612446
HP:0005420	Recurrent gram-negative bacterial infections	4153	MBL2	OMIM:614372
HP:0005420	Recurrent gram-negative bacterial infections	629	CFB	OMIM:615561
HP:0005420	Recurrent gram-negative bacterial infections	3689	ITGB2	OMIM:116920
HP:0005420	Recurrent gram-negative bacterial infections	730	C7	OMIM:610102
HP:0005420	Recurrent gram-negative bacterial infections	732	C8B	OMIM:613789
HP:0005420	Recurrent gram-negative bacterial infections	727	C5	OMIM:609536
HP:0004315	Decreased circulating IgG level	2137	EXTL3	ORPHA:508533
HP:0004315	Decreased circulating IgG level	3561	IL2RG	ORPHA:276
HP:0004315	Decreased circulating IgG level	3561	IL2RG	OMIM:312863
HP:0004315	Decreased circulating IgG level	3561	IL2RG	OMIM:300400
HP:0004315	Decreased circulating IgG level	355	FAS	ORPHA:3261
HP:0004315	Decreased circulating IgG level	356	FASLG	ORPHA:3261
HP:0004315	Decreased circulating IgG level	5580	PRKCD	ORPHA:3261
HP:0004315	Decreased circulating IgG level	843	CASP10	ORPHA:3261
HP:0004315	Decreased circulating IgG level	10125	RASGRP1	ORPHA:3261
HP:0004315	Decreased circulating IgG level	10125	RASGRP1	OMIM:618534
HP:0004315	Decreased circulating IgG level	64421	DCLRE1C	ORPHA:275
HP:0004315	Decreased circulating IgG level	695	BTK	OMIM:300755
HP:0004315	Decreased circulating IgG level	10043	TOM1	OMIM:619510
HP:0004315	Decreased circulating IgG level	3572	IL6ST	OMIM:619752
HP:0004315	Decreased circulating IgG level	3702	ITK	OMIM:613011
HP:0004315	Decreased circulating IgG level	115650	TNFRSF13C	OMIM:613494
HP:0004315	Decreased circulating IgG level	115650	TNFRSF13C	OMIM:240500
HP:0004315	Decreased circulating IgG level	5295	PIK3R1	OMIM:616005
HP:0004315	Decreased circulating IgG level	9841	ZBTB24	OMIM:614069
HP:0004315	Decreased circulating IgG level	5880	RAC2	OMIM:618986
HP:0004315	Decreased circulating IgG level	5880	RAC2	OMIM:618987
HP:0004315	Decreased circulating IgG level	3932	LCK	OMIM:615758
HP:0004315	Decreased circulating IgG level	6948	TCN2	OMIM:275350
HP:0004315	Decreased circulating IgG level	6948	TCN2	ORPHA:859
HP:0004315	Decreased circulating IgG level	3570	IL6R	OMIM:618944
HP:0004315	Decreased circulating IgG level	987	LRBA	OMIM:614700
HP:0004315	Decreased circulating IgG level	8517	IKBKG	OMIM:301081
HP:0004315	Decreased circulating IgG level	54440	SASH3	OMIM:301082
HP:0004315	Decreased circulating IgG level	959	CD40LG	OMIM:308230
HP:0004315	Decreased circulating IgG level	4796	TONSL	OMIM:271510
HP:0004315	Decreased circulating IgG level	5293	PIK3CD	OMIM:619281
HP:0004315	Decreased circulating IgG level	4247	MGAT2	ORPHA:79329
HP:0004315	Decreased circulating IgG level	7555	CNBP	OMIM:602668
HP:0004315	Decreased circulating IgG level	1457	CSNK2A1	OMIM:617062
HP:0004315	Decreased circulating IgG level	57379	AICDA	OMIM:605258
HP:0004315	Decreased circulating IgG level	374354	NHLRC2	OMIM:618278
HP:0004315	Decreased circulating IgG level	60468	BACH2	OMIM:618394
HP:0004315	Decreased circulating IgG level	974	CD79B	OMIM:612692
HP:0004315	Decreased circulating IgG level	5788	PTPRC	OMIM:619924
HP:0004315	Decreased circulating IgG level	11005	SPINK5	OMIM:256500
HP:0004315	Decreased circulating IgG level	641	BLM	OMIM:210900
HP:0004315	Decreased circulating IgG level	641	BLM	ORPHA:125
HP:0004315	Decreased circulating IgG level	841	CASP8	OMIM:607271
HP:0004315	Decreased circulating IgG level	472	ATM	OMIM:208900
HP:0004315	Decreased circulating IgG level	59067	IL21	OMIM:615767
HP:0004315	Decreased circulating IgG level	29760	BLNK	OMIM:613502
HP:0004315	Decreased circulating IgG level	5294	PIK3CG	OMIM:619802
HP:0004315	Decreased circulating IgG level	7841	MOGS	ORPHA:79330
HP:0004315	Decreased circulating IgG level	3718	JAK3	ORPHA:35078
HP:0004315	Decreased circulating IgG level	331	XIAP	OMIM:308240
HP:0004315	Decreased circulating IgG level	4068	SH2D1A	OMIM:308240
HP:0004315	Decreased circulating IgG level	29851	ICOS	OMIM:607594
HP:0004315	Decreased circulating IgG level	29851	ICOS	OMIM:240500
HP:0004315	Decreased circulating IgG level	7298	TYMS	OMIM:620040
HP:0004315	Decreased circulating IgG level	57724	EPG5	OMIM:242840
HP:0004315	Decreased circulating IgG level	57724	EPG5	ORPHA:1493
HP:0004315	Decreased circulating IgG level	915	CD3D	ORPHA:169160
HP:0004315	Decreased circulating IgG level	916	CD3E	ORPHA:169160
HP:0004315	Decreased circulating IgG level	919	CD247	ORPHA:169160
HP:0004315	Decreased circulating IgG level	65082	VPS33A	ORPHA:505248
HP:0004315	Decreased circulating IgG level	5966	REL	OMIM:619652
HP:0004315	Decreased circulating IgG level	55687	TRMU	OMIM:613070
HP:0004315	Decreased circulating IgG level	23495	TNFRSF13B	OMIM:240500
HP:0004315	Decreased circulating IgG level	3978	LIG1	OMIM:619774
HP:0004315	Decreased circulating IgG level	6651	SON	ORPHA:500150
HP:0004315	Decreased circulating IgG level	1493	CTLA4	OMIM:616100
HP:0004315	Decreased circulating IgG level	4791	NFKB2	OMIM:615577
HP:0004315	Decreased circulating IgG level	1503	CTPS1	OMIM:615897
HP:0004315	Decreased circulating IgG level	7852	CXCR4	OMIM:193670
HP:0004315	Decreased circulating IgG level	5896	RAG1	ORPHA:331206
HP:0004315	Decreased circulating IgG level	5896	RAG1	OMIM:233650
HP:0004315	Decreased circulating IgG level	5897	RAG2	ORPHA:331206
HP:0004315	Decreased circulating IgG level	5897	RAG2	OMIM:233650
HP:0004315	Decreased circulating IgG level	8792	TNFRSF11A	OMIM:612301
HP:0004315	Decreased circulating IgG level	5557	PRIM1	OMIM:620005
HP:0004315	Decreased circulating IgG level	3431	SP110	OMIM:235550
HP:0004315	Decreased circulating IgG level	3514	IGKC	ORPHA:183675
HP:0004315	Decreased circulating IgG level	3501	IGHG2	ORPHA:183675
HP:0004315	Decreased circulating IgG level	79087	ALG12	OMIM:607143
HP:0004315	Decreased circulating IgG level	51311	TLR8	OMIM:301078
HP:0004315	Decreased circulating IgG level	2068	ERCC2	OMIM:601675
HP:0004315	Decreased circulating IgG level	7374	UNG	OMIM:608106
HP:0004315	Decreased circulating IgG level	958	CD40	OMIM:606843
HP:0004315	Decreased circulating IgG level	567	B2M	OMIM:241600
HP:0004315	Decreased circulating IgG level	8884	SLC5A6	OMIM:618973
HP:0004315	Decreased circulating IgG level	96459	FNIP1	OMIM:619705
HP:0004315	Decreased circulating IgG level	359948	IRF2BP2	OMIM:617765
HP:0004315	Decreased circulating IgG level	6688	SPI1	OMIM:619707
HP:0004315	Decreased circulating IgG level	9138	ARHGEF1	OMIM:618459
HP:0004315	Decreased circulating IgG level	84888	SPPL2A	OMIM:619549
HP:0004315	Decreased circulating IgG level	6929	TCF3	OMIM:619824
HP:0004315	Decreased circulating IgG level	165918	RNF168	OMIM:611943
HP:0004315	Decreased circulating IgG level	165918	RNF168	ORPHA:420741
HP:0004315	Decreased circulating IgG level	8883	NAE1	OMIM:620210
HP:0004315	Decreased circulating IgG level	5373	PMM2	OMIM:212065
HP:0004315	Decreased circulating IgG level	100	ADA	OMIM:102700
HP:0004315	Decreased circulating IgG level	6850	SYK	OMIM:619381
HP:0004315	Decreased circulating IgG level	10625	IVNS1ABP	OMIM:618969
HP:0004315	Decreased circulating IgG level	90417	KNSTRN	ORPHA:221139
HP:0004315	Decreased circulating IgG level	975	CD81	OMIM:613496
HP:0004315	Decreased circulating IgG level	930	CD19	OMIM:613493
HP:0004315	Decreased circulating IgG level	537	ATP6AP1	OMIM:300972
HP:0004315	Decreased circulating IgG level	931	MS4A1	OMIM:613495
HP:0004315	Decreased circulating IgG level	64135	IFIH1	OMIM:619773
HP:0004315	Decreased circulating IgG level	30011	SH3KBP1	OMIM:300310
HP:0004315	Decreased circulating IgG level	917	CD3G	OMIM:615607
HP:0004315	Decreased circulating IgG level	7737	RNF113A	OMIM:300953
HP:0004315	Decreased circulating IgG level	1380	CR2	OMIM:614699
HP:0005390	Recurrent opportunistic infections	100	ADA	ORPHA:277
HP:0005390	Recurrent opportunistic infections	3561	IL2RG	ORPHA:276
HP:0005390	Recurrent opportunistic infections	4860	PNP	OMIM:613179
HP:0005390	Recurrent opportunistic infections	5896	RAG1	OMIM:601457
HP:0005390	Recurrent opportunistic infections	5897	RAG2	OMIM:601457
HP:0005390	Recurrent opportunistic infections	55651	NHP2	OMIM:613987
HP:0005390	Recurrent opportunistic infections	64421	DCLRE1C	ORPHA:275
HP:0005390	Recurrent opportunistic infections	7535	ZAP70	ORPHA:911
HP:0005390	Recurrent opportunistic infections	3575	IL7R	OMIM:608971
HP:0005390	Recurrent opportunistic infections	3718	JAK3	ORPHA:35078
HP:0031250	Lip fissure	10804	GJB6	ORPHA:477
HP:0031250	Lip fissure	2706	GJB2	ORPHA:477
HP:0031251	Abnormal subclavian artery morphology	5337	PLD1	OMIM:212093
HP:0031251	Abnormal subclavian artery morphology	137814	NKX2-6	ORPHA:3384
HP:0031251	Abnormal subclavian artery morphology	23129	PLXND1	ORPHA:3384
HP:0031251	Abnormal subclavian artery morphology	1656	DDX6	OMIM:618653
HP:0031251	Abnormal subclavian artery morphology	5293	PIK3CD	ORPHA:221139
HP:0031251	Abnormal subclavian artery morphology	90417	KNSTRN	ORPHA:221139
HP:0031251	Abnormal subclavian artery morphology	1387	CREBBP	ORPHA:353277
HP:0031251	Abnormal subclavian artery morphology	2033	EP300	ORPHA:353284
HP:0031251	Abnormal subclavian artery morphology	59	ACTA2	OMIM:613834
HP:0031252	Dilated left subclavian artery	59	ACTA2	OMIM:613834
HP:0031258	Delirium	9896	FIG4	ORPHA:208441
HP:0031258	Delirium	9896	FIG4	OMIM:612691
HP:0031258	Delirium	210	ALAD	ORPHA:100924
HP:0031258	Delirium	162417	NAGS	ORPHA:927
HP:0031258	Delirium	10165	SLC25A13	ORPHA:247585
HP:0031258	Delirium	25974	MMACHC	ORPHA:79282
HP:0031258	Delirium	25974	MMACHC	OMIM:277400
HP:0031258	Delirium	1786	DNMT1	OMIM:614116
HP:0031258	Delirium	6261	RYR1	ORPHA:466650
HP:0031258	Delirium	4556	MT-TE	ORPHA:2596
HP:0031258	Delirium	5052	PRDX1	OMIM:277400
HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	5528	PPP2R5D	ORPHA:457279
HP:0031260	Triangular tibia	2019	EN1	OMIM:619218
HP:0031261	Bladder polyp	6794	STK11	OMIM:175200
HP:0031263	Abnormal renal corpuscle morphology	54345	SOX18	OMIM:137940
HP:0031263	Abnormal renal corpuscle morphology	8518	ELP1	OMIM:223900
HP:0031263	Abnormal renal corpuscle morphology	100147744	RNU7-1	OMIM:619487
HP:0031263	Abnormal renal corpuscle morphology	5339	PLEC	ORPHA:158684
HP:0031263	Abnormal renal corpuscle morphology	3691	ITGB4	ORPHA:158684
HP:0031263	Abnormal renal corpuscle morphology	7428	VHL	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	7428	VHL	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	1743	DLST	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	4191	MDH2	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	5979	RET	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	5979	RET	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	6389	SDHA	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	23095	KIF1B	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	2271	FH	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	8402	SLC25A11	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	54949	SDHAF2	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	55654	TMEM127	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	4763	NF1	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	6391	SDHC	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	6392	SDHD	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	6392	SDHD	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	6390	SDHB	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	6390	SDHB	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	4149	MAX	ORPHA:29072
HP:0031263	Abnormal renal corpuscle morphology	4582	MUC1	OMIM:174000
HP:0031263	Abnormal renal corpuscle morphology	1788	DNMT3A	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	2034	EPAS1	ORPHA:276621
HP:0031263	Abnormal renal corpuscle morphology	2184	FAH	OMIM:276700
HP:0031263	Abnormal renal corpuscle morphology	4558	MT-TF	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4572	MT-TQ	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4512	MT-CO1	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4513	MT-CO2	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4514	MT-CO3	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4578	MT-TW	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4540	MT-ND5	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4541	MT-ND6	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4535	MT-ND1	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4538	MT-ND4	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4567	MT-TL1	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4574	MT-TS1	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4575	MT-TS2	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	4564	MT-TH	ORPHA:550
HP:0031263	Abnormal renal corpuscle morphology	5972	REN	OMIM:613092
HP:0031263	Abnormal renal corpuscle morphology	8270	LAGE3	OMIM:301006
HP:0031263	Abnormal renal corpuscle morphology	29927	SEC61A1	OMIM:617056
HP:0031263	Abnormal renal corpuscle morphology	51002	TPRKB	OMIM:617731
HP:0031263	Abnormal renal corpuscle morphology	10785	WDR4	OMIM:618347
HP:0031263	Abnormal renal corpuscle morphology	3675	ITGA3	OMIM:614748
HP:0031263	Abnormal renal corpuscle morphology	1184	CLCN5	OMIM:308990
HP:0031263	Abnormal renal corpuscle morphology	2542	SLC37A4	OMIM:232220
HP:0031263	Abnormal renal corpuscle morphology	2542	SLC37A4	OMIM:232240
HP:0031263	Abnormal renal corpuscle morphology	10651	MTX2	OMIM:619127
HP:0031263	Abnormal renal corpuscle morphology	50485	SMARCAL1	ORPHA:1830
HP:0031263	Abnormal renal corpuscle morphology	50485	SMARCAL1	OMIM:242900
HP:0031263	Abnormal renal corpuscle morphology	65082	VPS33A	OMIM:617303
HP:0031263	Abnormal renal corpuscle morphology	182	JAG1	OMIM:118450
HP:0031263	Abnormal renal corpuscle morphology	27235	COQ2	OMIM:607426
HP:0031263	Abnormal renal corpuscle morphology	2538	G6PC1	OMIM:232200
HP:0031263	Abnormal renal corpuscle morphology	3911	LAMA5	OMIM:620049
HP:0031263	Abnormal renal corpuscle morphology	79731	NARS2	OMIM:616239
HP:0031263	Abnormal renal corpuscle morphology	950	SCARB2	OMIM:254900
HP:0031263	Abnormal renal corpuscle morphology	1188	CLCNKB	ORPHA:358
HP:0031263	Abnormal renal corpuscle morphology	6559	SLC12A3	ORPHA:358
HP:0031263	Abnormal renal corpuscle morphology	7840	ALMS1	ORPHA:64
HP:0031263	Abnormal renal corpuscle morphology	9056	SLC7A7	ORPHA:470
HP:0031263	Abnormal renal corpuscle morphology	355	FAS	ORPHA:3261
HP:0031263	Abnormal renal corpuscle morphology	356	FASLG	ORPHA:3261
HP:0031263	Abnormal renal corpuscle morphology	5580	PRKCD	ORPHA:3261
HP:0031263	Abnormal renal corpuscle morphology	843	CASP10	ORPHA:3261
HP:0031263	Abnormal renal corpuscle morphology	10125	RASGRP1	ORPHA:3261
HP:0031263	Abnormal renal corpuscle morphology	720	C4A	OMIM:614380
HP:0031263	Abnormal renal corpuscle morphology	8651	SOCS1	OMIM:619375
HP:0031263	Abnormal renal corpuscle morphology	3426	CFI	OMIM:610984
HP:0031263	Abnormal renal corpuscle morphology	50943	FOXP3	OMIM:304790
HP:0031263	Abnormal renal corpuscle morphology	81494	CFHR5	OMIM:614809
HP:0031263	Abnormal renal corpuscle morphology	4010	LMX1B	OMIM:161200
HP:0031263	Abnormal renal corpuscle morphology	4312	MMP1	ORPHA:79408
HP:0031263	Abnormal renal corpuscle morphology	1294	COL7A1	ORPHA:79408
HP:0031263	Abnormal renal corpuscle morphology	4311	MME	ORPHA:69063
HP:0031263	Abnormal renal corpuscle morphology	81603	TRIM8	OMIM:619428
HP:0031263	Abnormal renal corpuscle morphology	6557	SLC12A1	OMIM:601678
HP:0031263	Abnormal renal corpuscle morphology	3758	KCNJ1	OMIM:241200
HP:0031263	Abnormal renal corpuscle morphology	57169	ZNFX1	OMIM:619644
HP:0031263	Abnormal renal corpuscle morphology	1777	DNASE2	OMIM:619858
HP:0031263	Abnormal renal corpuscle morphology	712	C1QA	OMIM:613652
HP:0031263	Abnormal renal corpuscle morphology	5238	PGM3	ORPHA:443811
HP:0031263	Abnormal renal corpuscle morphology	5238	PGM3	OMIM:615816
HP:0031263	Abnormal renal corpuscle morphology	718	C3	OMIM:613779
HP:0031263	Abnormal renal corpuscle morphology	2335	FN1	ORPHA:84090
HP:0031263	Abnormal renal corpuscle morphology	112858	TP53RK	OMIM:617730
HP:0031263	Abnormal renal corpuscle morphology	396	ARHGDIA	OMIM:615244
HP:0031263	Abnormal renal corpuscle morphology	396	ARHGDIA	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	51004	COQ6	OMIM:614650
HP:0031263	Abnormal renal corpuscle morphology	9688	NUP93	OMIM:616892
HP:0031263	Abnormal renal corpuscle morphology	9688	NUP93	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	100	ADA	OMIM:102700
HP:0031263	Abnormal renal corpuscle morphology	57122	NUP107	OMIM:616730
HP:0031263	Abnormal renal corpuscle morphology	57122	NUP107	OMIM:618348
HP:0031263	Abnormal renal corpuscle morphology	57122	NUP107	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	84520	GON7	OMIM:619603
HP:0031263	Abnormal renal corpuscle morphology	7490	WT1	OMIM:256370
HP:0031263	Abnormal renal corpuscle morphology	7490	WT1	OMIM:194080
HP:0031263	Abnormal renal corpuscle morphology	7490	WT1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	84942	WDR73	OMIM:251300
HP:0031263	Abnormal renal corpuscle morphology	55644	OSGEP	OMIM:617729
HP:0031263	Abnormal renal corpuscle morphology	3913	LAMB2	OMIM:609049
HP:0031263	Abnormal renal corpuscle morphology	51196	PLCE1	OMIM:610725
HP:0031263	Abnormal renal corpuscle morphology	51196	PLCE1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	4868	NPHS1	OMIM:256300
HP:0031263	Abnormal renal corpuscle morphology	4868	NPHS1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	23607	CD2AP	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	4643	MYO1E	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	64423	INF2	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	26130	GAPVD1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	51479	ANKFY1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	54443	ANLN	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	5800	PTPRO	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	286204	CRB2	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	23165	NUP205	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	79023	NUP37	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	79902	NUP85	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	1285	COL4A3	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	79934	COQ8B	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	23279	NUP160	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	9863	MAGI2	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	81	ACTN4	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	7225	TRPC6	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	8542	APOL1	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	54885	TBC1D8B	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	7827	NPHS2	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	83478	ARHGAP24	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	5076	PAX2	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	55746	NUP133	ORPHA:656
HP:0031263	Abnormal renal corpuscle morphology	3075	CFH	OMIM:609814
HP:0031263	Abnormal renal corpuscle morphology	2625	GATA3	OMIM:146255
HP:0031263	Abnormal renal corpuscle morphology	51134	CEP83	OMIM:615862
HP:0031263	Abnormal renal corpuscle morphology	1287	COL4A5	OMIM:301050
HP:0031263	Abnormal renal corpuscle morphology	977	CD151	OMIM:609057
HP:0031263	Abnormal renal corpuscle morphology	7809	BSND	OMIM:602522
HP:0031263	Abnormal renal corpuscle morphology	8260	NAA10	OMIM:300855
HP:0031263	Abnormal renal corpuscle morphology	1314	COPA	OMIM:616414
HP:0031263	Abnormal renal corpuscle morphology	10253	SPRY2	OMIM:616818
HP:0031263	Abnormal renal corpuscle morphology	1286	COL4A4	OMIM:141200
HP:0031263	Abnormal renal corpuscle morphology	3716	JAK1	OMIM:618999
HP:0031263	Abnormal renal corpuscle morphology	25959	KANK2	OMIM:617783
HP:0031263	Abnormal renal corpuscle morphology	2013	EMP2	OMIM:615861
HP:0031263	Abnormal renal corpuscle morphology	7535	ZAP70	OMIM:617006
HP:0031263	Abnormal renal corpuscle morphology	8526	DGKE	OMIM:615008
HP:0031263	Abnormal renal corpuscle morphology	55243	KIRREL1	OMIM:619201
HP:0031263	Abnormal renal corpuscle morphology	23500	DAAM2	OMIM:619263
HP:0031263	Abnormal renal corpuscle morphology	79693	YRDC	OMIM:619609
HP:0031263	Abnormal renal corpuscle morphology	8879	SGPL1	OMIM:617575
HP:0031263	Abnormal renal corpuscle morphology	9722	NOS1AP	OMIM:619155
HP:0031263	Abnormal renal corpuscle morphology	10677	AVIL	OMIM:618594
HP:0031263	Abnormal renal corpuscle morphology	254428	SLC41A1	OMIM:619468
HP:0031263	Abnormal renal corpuscle morphology	975	CD81	OMIM:613496
HP:0031263	Abnormal renal corpuscle morphology	57728	WDR19	OMIM:614377
HP:0031263	Abnormal renal corpuscle morphology	57728	WDR19	OMIM:616307
HP:0031263	Abnormal renal corpuscle morphology	2212	FCGR2A	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	2213	FCGR2B	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	26191	PTPN22	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	11277	TREX1	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	1493	CTLA4	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	1773	DNASE1	OMIM:152700
HP:0031263	Abnormal renal corpuscle morphology	1776	DNASE1L3	OMIM:614420
HP:0031263	Abnormal renal corpuscle morphology	4536	MT-ND2	ORPHA:255210
HP:0031263	Abnormal renal corpuscle morphology	4537	MT-ND3	ORPHA:255210
HP:0031263	Abnormal renal corpuscle morphology	4577	MT-TV	ORPHA:255210
HP:0031263	Abnormal renal corpuscle morphology	4508	MT-ATP6	ORPHA:255210
HP:0031263	Abnormal renal corpuscle morphology	27031	NPHP3	OMIM:267010
HP:0031263	Abnormal renal corpuscle morphology	93649	MYOCD	OMIM:618719
HP:0031263	Abnormal renal corpuscle morphology	9663	LPIN2	ORPHA:77297
HP:0031263	Abnormal renal corpuscle morphology	348	APOE	OMIM:611771
HP:0031263	Abnormal renal corpuscle morphology	25974	MMACHC	ORPHA:79282
HP:0031263	Abnormal renal corpuscle morphology	7454	WAS	ORPHA:906
HP:0031263	Abnormal renal corpuscle morphology	7456	WIPF1	ORPHA:906
HP:0031263	Abnormal renal corpuscle morphology	84823	LMNB2	ORPHA:79087
HP:0031263	Abnormal renal corpuscle morphology	3115	HLA-DPB1	ORPHA:900
HP:0031263	Abnormal renal corpuscle morphology	5657	PRTN3	ORPHA:900
HP:0031263	Abnormal renal corpuscle morphology	3113	HLA-DPA1	ORPHA:900
HP:0031263	Abnormal renal corpuscle morphology	2303	FOXC2	ORPHA:33001
HP:0031263	Abnormal renal corpuscle morphology	6928	HNF1B	ORPHA:93111
HP:0031263	Abnormal renal corpuscle morphology	2717	GLA	ORPHA:324
HP:0031263	Abnormal renal corpuscle morphology	4556	MT-TE	ORPHA:225
HP:0031263	Abnormal renal corpuscle morphology	4566	MT-TK	ORPHA:225
HP:0031263	Abnormal renal corpuscle morphology	23630	KCNE5	ORPHA:86818
HP:0031263	Abnormal renal corpuscle morphology	2182	ACSL4	ORPHA:86818
HP:0031263	Abnormal renal corpuscle morphology	9949	AMMECR1	ORPHA:86818
HP:0031263	Abnormal renal corpuscle morphology	4552	MTRR	ORPHA:2169
HP:0031263	Abnormal renal corpuscle morphology	4952	OCRL	ORPHA:534
HP:0031263	Abnormal renal corpuscle morphology	149233	IL23R	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	6775	STAT4	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	3586	IL10	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	4210	MEFV	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	1230	CCR1	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	3592	IL12A	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	101928376	IL12A-AS1	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	3106	HLA-B	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	7099	TLR4	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	3459	IFNGR1	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	337867	UBAC2	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	51752	ERAP1	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	8302	KLRC4	ORPHA:117
HP:0031263	Abnormal renal corpuscle morphology	4000	LMNA	ORPHA:2348
HP:0031264	Abnormal Bowman capsule morphology	2013	EMP2	OMIM:615861
HP:0031264	Abnormal Bowman capsule morphology	7535	ZAP70	OMIM:617006
HP:0031264	Abnormal Bowman capsule morphology	8526	DGKE	OMIM:615008
HP:0031264	Abnormal Bowman capsule morphology	55243	KIRREL1	OMIM:619201
HP:0031264	Abnormal Bowman capsule morphology	23500	DAAM2	OMIM:619263
HP:0031264	Abnormal Bowman capsule morphology	79693	YRDC	OMIM:619609
HP:0031264	Abnormal Bowman capsule morphology	8879	SGPL1	OMIM:617575
HP:0031264	Abnormal Bowman capsule morphology	9722	NOS1AP	OMIM:619155
HP:0031264	Abnormal Bowman capsule morphology	10677	AVIL	OMIM:618594
HP:0031264	Abnormal Bowman capsule morphology	254428	SLC41A1	OMIM:619468
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	2013	EMP2	OMIM:615861
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	7535	ZAP70	OMIM:617006
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	8526	DGKE	OMIM:615008
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	55243	KIRREL1	OMIM:619201
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	23500	DAAM2	OMIM:619263
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	79693	YRDC	OMIM:619609
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	8879	SGPL1	OMIM:617575
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	9722	NOS1AP	OMIM:619155
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	10677	AVIL	OMIM:618594
HP:0031266	Podocyte foot process effacement	2013	EMP2	OMIM:615861
HP:0031266	Podocyte foot process effacement	7535	ZAP70	OMIM:617006
HP:0031266	Podocyte foot process effacement	8526	DGKE	OMIM:615008
HP:0031266	Podocyte foot process effacement	55243	KIRREL1	OMIM:619201
HP:0031266	Podocyte foot process effacement	23500	DAAM2	OMIM:619263
HP:0031266	Podocyte foot process effacement	79693	YRDC	OMIM:619609
HP:0031266	Podocyte foot process effacement	8879	SGPL1	OMIM:617575
HP:0031266	Podocyte foot process effacement	9722	NOS1AP	OMIM:619155
HP:0031266	Podocyte foot process effacement	10677	AVIL	OMIM:618594
HP:0031267	Abnormal CD69 upregulation upon TCR activation	84061	MAGT1	OMIM:300853
HP:0031268	Decreased CD69 upregulation upon TCR activation	84061	MAGT1	OMIM:300853
HP:0010430	Aplasia of the phalanges of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0100362	Aplasia of the phalanges of the 3rd toe	4000	LMNA	ORPHA:2229
HP:0100362	Aplasia of the phalanges of the 3rd toe	285203	EOGT	OMIM:615297
HP:0100360	Upper-limb joint contracture	64093	SMOC1	OMIM:206920
HP:0100360	Upper-limb joint contracture	64093	SMOC1	ORPHA:1106
HP:0100360	Upper-limb joint contracture	7317	UBA1	ORPHA:1145
HP:0100360	Upper-limb joint contracture	3868	KRT16	ORPHA:2199
HP:0100360	Upper-limb joint contracture	3857	KRT9	ORPHA:2199
HP:0100360	Upper-limb joint contracture	3848	KRT1	ORPHA:2199
HP:0100360	Upper-limb joint contracture	4313	MMP2	OMIM:259600
HP:0100360	Upper-limb joint contracture	4204	MECP2	OMIM:300055
HP:0100360	Upper-limb joint contracture	57863	CADM3	OMIM:619519
HP:0100360	Upper-limb joint contracture	55681	SCYL2	ORPHA:1143
HP:0100360	Upper-limb joint contracture	84570	COL25A1	ORPHA:1143
HP:0100360	Upper-limb joint contracture	57222	ERGIC1	ORPHA:1143
HP:0100360	Upper-limb joint contracture	157570	ESCO2	ORPHA:3103
HP:0100360	Upper-limb joint contracture	157570	ESCO2	OMIM:268300
HP:0100360	Upper-limb joint contracture	126792	B3GALT6	OMIM:609465
HP:0100360	Upper-limb joint contracture	825	CAPN3	ORPHA:267
HP:0100360	Upper-limb joint contracture	8449	DHX16	OMIM:618733
HP:0100360	Upper-limb joint contracture	2137	EXTL3	ORPHA:508533
HP:0100360	Upper-limb joint contracture	83932	SPRTN	OMIM:616200
HP:0100360	Upper-limb joint contracture	5352	PLOD2	OMIM:609220
HP:0100360	Upper-limb joint contracture	6536	SLC6A9	OMIM:617301
HP:0100360	Upper-limb joint contracture	5831	PYCR1	OMIM:614438
HP:0100360	Upper-limb joint contracture	2010	EMD	OMIM:310300
HP:0100360	Upper-limb joint contracture	2010	EMD	ORPHA:98863
HP:0100360	Upper-limb joint contracture	5351	PLOD1	ORPHA:1900
HP:0100360	Upper-limb joint contracture	7020	TFAP2A	OMIM:113620
HP:0100360	Upper-limb joint contracture	127833	SYT2	OMIM:619461
HP:0100360	Upper-limb joint contracture	54681	P4HTM	OMIM:618493
HP:0100360	Upper-limb joint contracture	5277	PIGA	OMIM:300868
HP:0100360	Upper-limb joint contracture	545	ATR	OMIM:210600
HP:0100360	Upper-limb joint contracture	6023	RMRP	OMIM:607095
HP:0100360	Upper-limb joint contracture	3908	LAMA2	OMIM:618138
HP:0100360	Upper-limb joint contracture	2783	GNB2	OMIM:619503
HP:0100360	Upper-limb joint contracture	4632	MYL1	OMIM:618414
HP:0100360	Upper-limb joint contracture	9653	HS2ST1	OMIM:619194
HP:0100360	Upper-limb joint contracture	9051	PSTPIP1	OMIM:604416
HP:0100360	Upper-limb joint contracture	84065	TMEM222	OMIM:619470
HP:0100360	Upper-limb joint contracture	3835	KIF22	ORPHA:93360
HP:0100360	Upper-limb joint contracture	9791	PTDSS1	OMIM:151050
HP:0100360	Upper-limb joint contracture	6628	SNRPB	OMIM:117650
HP:0100360	Upper-limb joint contracture	340419	RSPO2	OMIM:618022
HP:0100360	Upper-limb joint contracture	1861	TOR1A	OMIM:618947
HP:0100360	Upper-limb joint contracture	23233	EXOC6B	ORPHA:93359
HP:0100360	Upper-limb joint contracture	285175	UNC80	ORPHA:371364
HP:0100360	Upper-limb joint contracture	84992	PIGY	OMIM:616809
HP:0100360	Upper-limb joint contracture	2222	FDFT1	OMIM:618156
HP:0100360	Upper-limb joint contracture	163175	LGI4	OMIM:617468
HP:0100360	Upper-limb joint contracture	60681	FKBP10	OMIM:259450
HP:0100360	Upper-limb joint contracture	2799	GNS	OMIM:252940
HP:0100360	Upper-limb joint contracture	1376	CPT2	OMIM:608836
HP:0100360	Upper-limb joint contracture	5286	PIK3C2A	OMIM:618440
HP:0100360	Upper-limb joint contracture	25836	NIPBL	OMIM:122470
HP:0100360	Upper-limb joint contracture	7476	WNT7A	OMIM:276820
HP:0100360	Upper-limb joint contracture	64116	SLC39A8	ORPHA:468699
HP:0100360	Upper-limb joint contracture	5832	ALDH18A1	ORPHA:447757
HP:0100360	Upper-limb joint contracture	26229	B3GAT3	OMIM:245600
HP:0100360	Upper-limb joint contracture	91137	SLC25A46	OMIM:619303
HP:0100360	Upper-limb joint contracture	9427	ECEL1	OMIM:615065
HP:0100360	Upper-limb joint contracture	2706	GJB2	OMIM:148210
HP:0100360	Upper-limb joint contracture	1756	DMD	ORPHA:206546
HP:0100360	Upper-limb joint contracture	79188	TMEM43	ORPHA:98853
HP:0100360	Upper-limb joint contracture	23224	SYNE2	ORPHA:98853
HP:0100360	Upper-limb joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0100360	Upper-limb joint contracture	3714	JAG2	OMIM:619566
HP:0100360	Upper-limb joint contracture	7138	TNNT1	ORPHA:98902
HP:0100360	Upper-limb joint contracture	7138	TNNT1	OMIM:605355
HP:0100360	Upper-limb joint contracture	339855	KY	OMIM:617114
HP:0100360	Upper-limb joint contracture	55628	ZNF407	OMIM:619557
HP:0100360	Upper-limb joint contracture	23219	FBXO28	OMIM:619777
HP:0100360	Upper-limb joint contracture	84265	POLR3GL	OMIM:619234
HP:0100360	Upper-limb joint contracture	29072	SETD2	ORPHA:821
HP:0100360	Upper-limb joint contracture	10297	APC2	ORPHA:821
HP:0100360	Upper-limb joint contracture	3798	KIF5A	ORPHA:100991
HP:0100360	Upper-limb joint contracture	51305	KCNK9	ORPHA:166108
HP:0100360	Upper-limb joint contracture	7043	TGFB3	OMIM:615582
HP:0100360	Upper-limb joint contracture	5307	PITX1	OMIM:186550
HP:0100360	Upper-limb joint contracture	10664	CTCF	ORPHA:363611
HP:0100360	Upper-limb joint contracture	26053	AUTS2	ORPHA:352490
HP:0100360	Upper-limb joint contracture	219854	TMEM218	OMIM:619562
HP:0100360	Upper-limb joint contracture	23291	FBXW11	OMIM:618914
HP:0100360	Upper-limb joint contracture	79912	PYROXD1	OMIM:617258
HP:0100360	Upper-limb joint contracture	9757	KMT2B	OMIM:619934
HP:0100360	Upper-limb joint contracture	3720	JARID2	OMIM:620098
HP:0100360	Upper-limb joint contracture	10765	KDM5B	OMIM:618109
HP:0100360	Upper-limb joint contracture	9487	PIGL	OMIM:280000
HP:0100360	Upper-limb joint contracture	10093	ARPC4	OMIM:620141
HP:0100360	Upper-limb joint contracture	25942	SIN3A	OMIM:613406
HP:0100360	Upper-limb joint contracture	11011	TLK2	OMIM:618050
HP:0100360	Upper-limb joint contracture	80816	ASXL3	OMIM:615485
HP:0100360	Upper-limb joint contracture	81857	MED25	ORPHA:464738
HP:0100360	Upper-limb joint contracture	8243	SMC1A	OMIM:301044
HP:0100360	Upper-limb joint contracture	6909	TBX2	OMIM:618223
HP:0100360	Upper-limb joint contracture	1718	DHCR24	OMIM:602398
HP:0100360	Upper-limb joint contracture	5447	POR	OMIM:201750
HP:0100360	Upper-limb joint contracture	2737	GLI3	OMIM:175700
HP:0100360	Upper-limb joint contracture	1001	CDH3	OMIM:225280
HP:0100360	Upper-limb joint contracture	5830	PEX5	OMIM:214110
HP:0100360	Upper-limb joint contracture	1235	CCR6	ORPHA:220402
HP:0100360	Upper-limb joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0100360	Upper-limb joint contracture	1490	CCN2	ORPHA:220402
HP:0100360	Upper-limb joint contracture	3663	IRF5	ORPHA:220402
HP:0100360	Upper-limb joint contracture	857	CAV1	ORPHA:220402
HP:0100360	Upper-limb joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0100360	Upper-limb joint contracture	91179	SCARF2	OMIM:600920
HP:0100360	Upper-limb joint contracture	51715	RAB23	OMIM:201000
HP:0100360	Upper-limb joint contracture	113179	ADAT3	ORPHA:363528
HP:0100360	Upper-limb joint contracture	9215	LARGE1	OMIM:608840
HP:0100360	Upper-limb joint contracture	139285	AMER1	OMIM:300373
HP:0100360	Upper-limb joint contracture	8626	TP63	OMIM:603543
HP:0100360	Upper-limb joint contracture	10084	PQBP1	OMIM:309500
HP:0100360	Upper-limb joint contracture	7390	UROS	OMIM:263700
HP:0100360	Upper-limb joint contracture	1272	CNTN1	OMIM:612540
HP:0100360	Upper-limb joint contracture	3572	IL6ST	OMIM:618523
HP:0100360	Upper-limb joint contracture	10195	ALG3	OMIM:601110
HP:0100360	Upper-limb joint contracture	6913	TBX15	OMIM:260660
HP:0100360	Upper-limb joint contracture	51651	PTRH2	ORPHA:456312
HP:0100360	Upper-limb joint contracture	57449	PLEKHG5	OMIM:611067
HP:0100360	Upper-limb joint contracture	54332	GDAP1	ORPHA:99948
HP:0100360	Upper-limb joint contracture	5376	PMP22	ORPHA:90658
HP:0100360	Upper-limb joint contracture	26227	PHGDH	OMIM:256520
HP:0100360	Upper-limb joint contracture	1277	COL1A1	OMIM:130060
HP:0100360	Upper-limb joint contracture	6134	RPL10	OMIM:300998
HP:0100360	Upper-limb joint contracture	23327	NEDD4L	OMIM:617201
HP:0100360	Upper-limb joint contracture	8985	PLOD3	OMIM:612394
HP:0100360	Upper-limb joint contracture	1889	ECE1	OMIM:613870
HP:0100360	Upper-limb joint contracture	4010	LMX1B	ORPHA:2614
HP:0100360	Upper-limb joint contracture	6662	SOX9	OMIM:114290
HP:0100360	Upper-limb joint contracture	4297	KMT2A	OMIM:605130
HP:0100360	Upper-limb joint contracture	11160	ERLIN2	ORPHA:209951
HP:0100360	Upper-limb joint contracture	171023	ASXL1	ORPHA:97297
HP:0100360	Upper-limb joint contracture	5297	PI4KA	OMIM:616531
HP:0100360	Upper-limb joint contracture	1280	COL2A1	ORPHA:485
HP:0100360	Upper-limb joint contracture	6840	SVIL	OMIM:619040
HP:0100360	Upper-limb joint contracture	342035	GLDN	OMIM:617194
HP:0100360	Upper-limb joint contracture	3861	KRT14	ORPHA:69087
HP:0100360	Upper-limb joint contracture	57190	SELENON	ORPHA:2020
HP:0100360	Upper-limb joint contracture	58	ACTA1	ORPHA:2020
HP:0100360	Upper-limb joint contracture	4633	MYL2	ORPHA:2020
HP:0100360	Upper-limb joint contracture	3679	ITGA7	ORPHA:2020
HP:0100360	Upper-limb joint contracture	9200	HACD1	ORPHA:2020
HP:0100360	Upper-limb joint contracture	7170	TPM3	ORPHA:2020
HP:0100360	Upper-limb joint contracture	51776	MAP3K20	ORPHA:2020
HP:0100360	Upper-limb joint contracture	28982	FLVCR1	ORPHA:88628
HP:0100360	Upper-limb joint contracture	28982	FLVCR1	OMIM:609033
HP:0100360	Upper-limb joint contracture	5159	PDGFRB	OMIM:601812
HP:0100360	Upper-limb joint contracture	388015	RTL1	ORPHA:254528
HP:0100360	Upper-limb joint contracture	8788	DLK1	ORPHA:254528
HP:0100360	Upper-limb joint contracture	55384	MEG3	ORPHA:254528
HP:0100360	Upper-limb joint contracture	4921	DDR2	OMIM:618175
HP:0100360	Upper-limb joint contracture	23345	SYNE1	OMIM:618484
HP:0100360	Upper-limb joint contracture	23345	SYNE1	ORPHA:319332
HP:0100360	Upper-limb joint contracture	22880	MORC2	ORPHA:466768
HP:0100360	Upper-limb joint contracture	4747	NEFL	ORPHA:101085
HP:0100360	Upper-limb joint contracture	1859	DYRK1A	ORPHA:464311
HP:0100360	Upper-limb joint contracture	203859	ANO5	ORPHA:206549
HP:0100360	Upper-limb joint contracture	64423	INF2	OMIM:614455
HP:0100360	Upper-limb joint contracture	10280	SIGMAR1	OMIM:605726
HP:0100360	Upper-limb joint contracture	10397	NDRG1	OMIM:601455
HP:0100360	Upper-limb joint contracture	3315	HSPB1	OMIM:606595
HP:0100360	Upper-limb joint contracture	8566	PDXK	OMIM:618511
HP:0100360	Upper-limb joint contracture	3098	HK1	OMIM:605285
HP:0100360	Upper-limb joint contracture	3481	IGF2	OMIM:616489
HP:0100360	Upper-limb joint contracture	23387	SIK3	OMIM:618162
HP:0100360	Upper-limb joint contracture	57038	RARS2	OMIM:611523
HP:0100360	Upper-limb joint contracture	79147	FKRP	OMIM:606612
HP:0100360	Upper-limb joint contracture	79644	SRD5A3	OMIM:612713
HP:0100360	Upper-limb joint contracture	57211	ADGRG6	OMIM:616503
HP:0100360	Upper-limb joint contracture	2273	FHL1	OMIM:300695
HP:0100360	Upper-limb joint contracture	2521	FUS	ORPHA:300605
HP:0100360	Upper-limb joint contracture	80208	SPG11	ORPHA:300605
HP:0100360	Upper-limb joint contracture	10558	SPTLC1	ORPHA:300605
HP:0100360	Upper-limb joint contracture	57679	ALS2	ORPHA:300605
HP:0100360	Upper-limb joint contracture	2218	FKTN	ORPHA:272
HP:0100360	Upper-limb joint contracture	4621	MYH3	ORPHA:2053
HP:0100360	Upper-limb joint contracture	4621	MYH3	ORPHA:1146
HP:0100360	Upper-limb joint contracture	4621	MYH3	ORPHA:2990
HP:0100360	Upper-limb joint contracture	259232	NALCN	ORPHA:2053
HP:0100360	Upper-limb joint contracture	259232	NALCN	ORPHA:1146
HP:0100360	Upper-limb joint contracture	8294	H4C9	OMIM:619951
HP:0100360	Upper-limb joint contracture	3094	HINT1	ORPHA:324442
HP:0100360	Upper-limb joint contracture	8838	CCN6	OMIM:208230
HP:0100360	Upper-limb joint contracture	1947	EFNB1	ORPHA:1520
HP:0100360	Upper-limb joint contracture	7355	SLC35A2	ORPHA:356961
HP:0100360	Upper-limb joint contracture	118429	ANTXR2	ORPHA:2176
HP:0100360	Upper-limb joint contracture	5077	PAX3	ORPHA:1529
HP:0100360	Upper-limb joint contracture	5077	PAX3	ORPHA:896
HP:0100360	Upper-limb joint contracture	5077	PAX3	OMIM:148820
HP:0100360	Upper-limb joint contracture	2316	FLNA	OMIM:300244
HP:0100360	Upper-limb joint contracture	2316	FLNA	ORPHA:90652
HP:0100360	Upper-limb joint contracture	2316	FLNA	ORPHA:1826
HP:0100360	Upper-limb joint contracture	2316	FLNA	OMIM:305620
HP:0100360	Upper-limb joint contracture	9241	NOG	ORPHA:3250
HP:0100360	Upper-limb joint contracture	8200	GDF5	ORPHA:3250
HP:0100360	Upper-limb joint contracture	54968	TMEM70	ORPHA:1194
HP:0100360	Upper-limb joint contracture	613	BCR	ORPHA:261330
HP:0100360	Upper-limb joint contracture	1399	CRKL	ORPHA:261330
HP:0100360	Upper-limb joint contracture	5594	MAPK1	ORPHA:261330
HP:0100360	Upper-limb joint contracture	84466	MEGF10	OMIM:614399
HP:0100360	Upper-limb joint contracture	72	ACTG2	ORPHA:2604
HP:0100360	Upper-limb joint contracture	10216	PRG4	ORPHA:2848
HP:0100360	Upper-limb joint contracture	3508	IGHMBP2	OMIM:604320
HP:0100360	Upper-limb joint contracture	6926	TBX3	ORPHA:3138
HP:0100360	Upper-limb joint contracture	51360	MBTPS2	ORPHA:2273
HP:0100360	Upper-limb joint contracture	10381	TUBB3	OMIM:600638
HP:0100360	Upper-limb joint contracture	9469	CHST3	OMIM:143095
HP:0100360	Upper-limb joint contracture	3423	IDS	ORPHA:217085
HP:0100360	Upper-limb joint contracture	3423	IDS	ORPHA:217093
HP:0100360	Upper-limb joint contracture	64359	NXN	ORPHA:1507
HP:0100360	Upper-limb joint contracture	4920	ROR2	ORPHA:1507
HP:0100360	Upper-limb joint contracture	2697	GJA1	ORPHA:2710
HP:0100360	Upper-limb joint contracture	2697	GJA1	ORPHA:93404
HP:0100360	Upper-limb joint contracture	64127	NOD2	OMIM:186580
HP:0100360	Upper-limb joint contracture	64127	NOD2	ORPHA:90340
HP:0100360	Upper-limb joint contracture	6999	TDO2	OMIM:600627
HP:0100360	Upper-limb joint contracture	1301	COL11A1	ORPHA:2021
HP:0100360	Upper-limb joint contracture	1302	COL11A2	ORPHA:2021
HP:0100360	Upper-limb joint contracture	10716	TBR1	ORPHA:1617
HP:0100360	Upper-limb joint contracture	3425	IDUA	OMIM:607015
HP:0100360	Upper-limb joint contracture	3425	IDUA	ORPHA:93473
HP:0100360	Upper-limb joint contracture	4593	MUSK	OMIM:208150
HP:0100360	Upper-limb joint contracture	4593	MUSK	ORPHA:994
HP:0100360	Upper-limb joint contracture	63895	PIEZO2	OMIM:114300
HP:0100360	Upper-limb joint contracture	63895	PIEZO2	ORPHA:376
HP:0100360	Upper-limb joint contracture	63895	PIEZO2	ORPHA:2461
HP:0100360	Upper-limb joint contracture	56006	SMG9	OMIM:616920
HP:0100360	Upper-limb joint contracture	1857	DVL3	ORPHA:3107
HP:0100360	Upper-limb joint contracture	7474	WNT5A	ORPHA:3107
HP:0100360	Upper-limb joint contracture	1855	DVL1	ORPHA:3107
HP:0100360	Upper-limb joint contracture	2535	FZD2	ORPHA:3107
HP:0100360	Upper-limb joint contracture	9508	ADAMTS3	ORPHA:2136
HP:0100360	Upper-limb joint contracture	147372	CCBE1	ORPHA:2136
HP:0100360	Upper-limb joint contracture	79633	FAT4	ORPHA:2136
HP:0100360	Upper-limb joint contracture	5189	PEX1	ORPHA:3220
HP:0100360	Upper-limb joint contracture	5190	PEX6	ORPHA:3220
HP:0100360	Upper-limb joint contracture	5590	PRKCZ	ORPHA:1606
HP:0100360	Upper-limb joint contracture	2563	GABRD	ORPHA:1606
HP:0100360	Upper-limb joint contracture	23013	SPEN	ORPHA:1606
HP:0100360	Upper-limb joint contracture	8510	MMP23B	ORPHA:1606
HP:0100360	Upper-limb joint contracture	7798	LUZP1	ORPHA:1606
HP:0100360	Upper-limb joint contracture	6497	SKI	ORPHA:1606
HP:0100360	Upper-limb joint contracture	6497	SKI	ORPHA:2462
HP:0100360	Upper-limb joint contracture	10630	PDPN	ORPHA:1606
HP:0100360	Upper-limb joint contracture	3339	HSPG2	ORPHA:1606
HP:0100360	Upper-limb joint contracture	10277	UBE4B	ORPHA:1606
HP:0100360	Upper-limb joint contracture	8514	KCNAB2	ORPHA:1606
HP:0100360	Upper-limb joint contracture	473	RERE	ORPHA:1606
HP:0100360	Upper-limb joint contracture	63976	PRDM16	ORPHA:1606
HP:0100360	Upper-limb joint contracture	54897	CASZ1	ORPHA:1606
HP:0100360	Upper-limb joint contracture	9719	ADAMTSL2	OMIM:231050
HP:0100360	Upper-limb joint contracture	4952	OCRL	OMIM:309000
HP:0100360	Upper-limb joint contracture	8517	IKBKG	ORPHA:464
HP:0100360	Upper-limb joint contracture	10436	EMG1	ORPHA:1270
HP:0100360	Upper-limb joint contracture	57492	ARID1B	ORPHA:251056
HP:0100360	Upper-limb joint contracture	11128	POLR3A	ORPHA:3455
HP:0100360	Upper-limb joint contracture	2239	GPC4	ORPHA:373
HP:0100360	Upper-limb joint contracture	2719	GPC3	ORPHA:373
HP:0100360	Upper-limb joint contracture	55612	FERMT1	ORPHA:2908
HP:0100360	Upper-limb joint contracture	3977	LIFR	ORPHA:3206
HP:0100360	Upper-limb joint contracture	23483	TGDS	ORPHA:1388
HP:0100360	Upper-limb joint contracture	2260	FGFR1	OMIM:166250
HP:0100360	Upper-limb joint contracture	7140	TNNT3	ORPHA:1146
HP:0100360	Upper-limb joint contracture	7169	TPM2	ORPHA:1146
HP:0100360	Upper-limb joint contracture	7136	TNNI2	ORPHA:1146
HP:0100360	Upper-limb joint contracture	7136	TNNI2	OMIM:601680
HP:0100360	Upper-limb joint contracture	4604	MYBPC1	ORPHA:1146
HP:0100360	Upper-limb joint contracture	6885	MAP3K7	ORPHA:1826
HP:0100360	Upper-limb joint contracture	117581	TWIST2	ORPHA:920
HP:0100360	Upper-limb joint contracture	64324	NSD1	ORPHA:3447
HP:0100360	Upper-limb joint contracture	8726	EED	ORPHA:3447
HP:0100360	Upper-limb joint contracture	23512	SUZ12	ORPHA:3447
HP:0100360	Upper-limb joint contracture	2146	EZH2	ORPHA:3447
HP:0100360	Upper-limb joint contracture	1723	DHODH	ORPHA:246
HP:0100360	Upper-limb joint contracture	257	ALX3	ORPHA:391474
HP:0100360	Upper-limb joint contracture	3239	HOXD13	OMIM:186300
HP:0100360	Upper-limb joint contracture	3239	HOXD13	ORPHA:93406
HP:0100360	Upper-limb joint contracture	54903	MKS1	OMIM:249000
HP:0100360	Upper-limb joint contracture	91252	SLC39A13	OMIM:612350
HP:0100360	Upper-limb joint contracture	22930	RAB3GAP1	OMIM:619420
HP:0100360	Upper-limb joint contracture	7046	TGFBR1	ORPHA:60030
HP:0100360	Upper-limb joint contracture	10526	IPO8	ORPHA:60030
HP:0100360	Upper-limb joint contracture	7048	TGFBR2	ORPHA:60030
HP:0100360	Upper-limb joint contracture	3897	L1CAM	ORPHA:2466
HP:0100360	Upper-limb joint contracture	2245	FGD1	ORPHA:915
HP:0100360	Upper-limb joint contracture	2200	FBN1	ORPHA:2462
HP:0100360	Upper-limb joint contracture	2201	FBN2	ORPHA:115
HP:0100360	Upper-limb joint contracture	7227	TRPS1	ORPHA:77258
HP:0100360	Upper-limb joint contracture	4088	SMAD3	ORPHA:284984
HP:0100360	Upper-limb joint contracture	27238	GPKOW	ORPHA:2570
HP:0100360	Upper-limb joint contracture	10466	COG5	ORPHA:263487
HP:0100360	Upper-limb joint contracture	55315	SLC29A3	OMIM:602782
HP:0100360	Upper-limb joint contracture	23102	TBC1D2B	OMIM:619323
HP:0100360	Upper-limb joint contracture	2068	ERCC2	OMIM:610756
HP:0100360	Upper-limb joint contracture	2068	ERCC2	ORPHA:1466
HP:0100360	Upper-limb joint contracture	51114	ZDHHC9	ORPHA:776
HP:0100360	Upper-limb joint contracture	65109	UPF3B	ORPHA:776
HP:0100360	Upper-limb joint contracture	9968	MED12	ORPHA:776
HP:0100360	Upper-limb joint contracture	2067	ERCC1	OMIM:610758
HP:0100360	Upper-limb joint contracture	2067	ERCC1	ORPHA:1466
HP:0100360	Upper-limb joint contracture	114548	NLRP3	ORPHA:575
HP:0100360	Upper-limb joint contracture	2074	ERCC6	ORPHA:1466
HP:0100360	Upper-limb joint contracture	2073	ERCC5	ORPHA:1466
HP:0100360	Upper-limb joint contracture	134701	RIPPLY2	ORPHA:2311
HP:0100360	Upper-limb joint contracture	10683	DLL3	ORPHA:2311
HP:0100360	Upper-limb joint contracture	3955	LFNG	ORPHA:2311
HP:0100360	Upper-limb joint contracture	84667	HES7	ORPHA:2311
HP:0100360	Upper-limb joint contracture	145873	MESP2	ORPHA:2311
HP:0100360	Upper-limb joint contracture	81620	CDT1	ORPHA:2554
HP:0100360	Upper-limb joint contracture	5000	ORC4	ORPHA:2554
HP:0100360	Upper-limb joint contracture	23594	ORC6	ORPHA:2554
HP:0100360	Upper-limb joint contracture	8318	CDC45	ORPHA:2554
HP:0100360	Upper-limb joint contracture	990	CDC6	ORPHA:2554
HP:0100360	Upper-limb joint contracture	4998	ORC1	ORPHA:2554
HP:0100360	Upper-limb joint contracture	51053	GMNN	ORPHA:2554
HP:0100360	Upper-limb joint contracture	8260	NAA10	ORPHA:568
HP:0100360	Upper-limb joint contracture	54880	BCOR	ORPHA:568
HP:0100360	Upper-limb joint contracture	64327	LMBR1	ORPHA:93405
HP:0100360	Upper-limb joint contracture	6469	SHH	ORPHA:93405
HP:0100360	Upper-limb joint contracture	4927	NUP88	ORPHA:994
HP:0100360	Upper-limb joint contracture	7846	TUBA1A	ORPHA:994
HP:0100360	Upper-limb joint contracture	4654	MYOD1	ORPHA:994
HP:0100360	Upper-limb joint contracture	5913	RAPSN	ORPHA:994
HP:0100360	Upper-limb joint contracture	6572	SLC18A3	ORPHA:994
HP:0100360	Upper-limb joint contracture	285489	DOK7	ORPHA:994
HP:0100360	Upper-limb joint contracture	3914	LAMB3	OMIM:226650
HP:0100360	Upper-limb joint contracture	9150	CTDP1	ORPHA:48431
HP:0100360	Upper-limb joint contracture	8092	ALX1	ORPHA:306542
HP:0100360	Upper-limb joint contracture	29895	MYL11	OMIM:619110
HP:0100360	Upper-limb joint contracture	64840	PORCN	ORPHA:2092
HP:0100360	Upper-limb joint contracture	23443	SLC35A3	OMIM:615553
HP:0100360	Upper-limb joint contracture	285590	SH3PXD2B	ORPHA:137834
HP:0100360	Upper-limb joint contracture	1836	SLC26A2	ORPHA:628
HP:0100360	Upper-limb joint contracture	25914	RTTN	ORPHA:468631
HP:0100360	Upper-limb joint contracture	9935	MAFB	ORPHA:2774
HP:0100360	Upper-limb joint contracture	28952	CCDC22	OMIM:300963
HP:0100360	Upper-limb joint contracture	8450	CUL4B	ORPHA:85293
HP:0100360	Upper-limb joint contracture	1303	COL12A1	ORPHA:610
HP:0100360	Upper-limb joint contracture	1291	COL6A1	ORPHA:610
HP:0100360	Upper-limb joint contracture	1291	COL6A1	OMIM:158810
HP:0100360	Upper-limb joint contracture	1292	COL6A2	ORPHA:610
HP:0100360	Upper-limb joint contracture	1292	COL6A2	OMIM:158810
HP:0100360	Upper-limb joint contracture	1293	COL6A3	ORPHA:610
HP:0100360	Upper-limb joint contracture	1293	COL6A3	OMIM:158810
HP:0100360	Upper-limb joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0100360	Upper-limb joint contracture	8242	KDM5C	ORPHA:85279
HP:0100360	Upper-limb joint contracture	59341	TRPV4	ORPHA:2635
HP:0100360	Upper-limb joint contracture	2261	FGFR3	ORPHA:85164
HP:0100360	Upper-limb joint contracture	4000	LMNA	ORPHA:1662
HP:0100360	Upper-limb joint contracture	10269	ZMPSTE24	ORPHA:1662
HP:0100360	Upper-limb joint contracture	1146	CHRNG	ORPHA:2990
HP:0100360	Upper-limb joint contracture	23522	KAT6B	ORPHA:3047
HP:0100360	Upper-limb joint contracture	26123	TCTN3	ORPHA:2753
HP:0100360	Upper-limb joint contracture	64131	XYLT1	ORPHA:1425
HP:0100360	Upper-limb joint contracture	124583	CANT1	ORPHA:1425
HP:0100360	Upper-limb joint contracture	55790	CSGALNACT1	ORPHA:1425
HP:0100360	Upper-limb joint contracture	23529	CLCF1	ORPHA:1545
HP:0100360	Upper-limb joint contracture	9244	CRLF1	ORPHA:1545
HP:0100360	Upper-limb joint contracture	51002	TPRKB	ORPHA:2065
HP:0100360	Upper-limb joint contracture	84942	WDR73	ORPHA:2065
HP:0100360	Upper-limb joint contracture	55644	OSGEP	ORPHA:2065
HP:0100360	Upper-limb joint contracture	57122	NUP107	ORPHA:2065
HP:0100360	Upper-limb joint contracture	10785	WDR4	ORPHA:2065
HP:0100360	Upper-limb joint contracture	55746	NUP133	ORPHA:2065
HP:0100360	Upper-limb joint contracture	112858	TP53RK	ORPHA:2065
HP:0100360	Upper-limb joint contracture	8270	LAGE3	ORPHA:2065
HP:0100360	Upper-limb joint contracture	5696	PSMB8	OMIM:256040
HP:0100360	Upper-limb joint contracture	56916	SMARCAD1	ORPHA:1658
HP:0100368	Short phalanx of the 5th toe	6597	SMARCA4	OMIM:614609
HP:0100368	Short phalanx of the 5th toe	57492	ARID1B	OMIM:135900
HP:0100368	Short phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0100363	Aplasia of the phalanges of the 4th toe	285203	EOGT	OMIM:615297
HP:0100364	Aplasia of the phalanges of the 5th toe	3782	KCNN3	OMIM:618658
HP:0031273	Shock	6123	RPL3L	OMIM:619371
HP:0031273	Shock	1616	DAXX	ORPHA:100075
HP:0031273	Shock	546	ATRX	ORPHA:100075
HP:0031273	Shock	4633	MYL2	OMIM:619424
HP:0031273	Shock	442721	LMOD2	OMIM:619897
HP:0031273	Shock	368	ABCC6	OMIM:614473
HP:0031273	Shock	6389	SDHA	OMIM:613642
HP:0031273	Shock	8260	NAA10	ORPHA:276432
HP:0031273	Shock	10345	TRDN	OMIM:615441
HP:0031273	Shock	6340	SCNN1G	ORPHA:171876
HP:0031273	Shock	6337	SCNN1A	ORPHA:171876
HP:0031273	Shock	6338	SCNN1B	ORPHA:171876
HP:0031273	Shock	1832	DSP	ORPHA:158687
HP:0031273	Shock	3728	JUP	ORPHA:158687
HP:0031274	Hypovolemic shock	6340	SCNN1G	ORPHA:171876
HP:0031274	Hypovolemic shock	6337	SCNN1A	ORPHA:171876
HP:0031274	Hypovolemic shock	6338	SCNN1B	ORPHA:171876
HP:0031274	Hypovolemic shock	1832	DSP	ORPHA:158687
HP:0031274	Hypovolemic shock	3728	JUP	ORPHA:158687
HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	4808	NHLH2	OMIM:619755
HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	389549	FEZF1	OMIM:616030
HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	285203	EOGT	OMIM:615297
HP:0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	285203	EOGT	OMIM:615297
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	3782	KCNN3	OMIM:618658
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	57492	ARID1B	OMIM:135900
HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0031282	Malalignment of the great toenail	3861	KRT14	ORPHA:69087
HP:0031282	Malalignment of the great toenail	526	ATP6V1B2	ORPHA:79500
HP:0031282	Malalignment of the great toenail	57465	TBC1D24	ORPHA:79500
HP:0031284	Flushing	217	ALDH2	OMIM:610251
HP:0031284	Flushing	5979	RET	OMIM:162300
HP:0031284	Flushing	5979	RET	ORPHA:29072
HP:0031284	Flushing	5979	RET	ORPHA:276621
HP:0031284	Flushing	171023	ASXL1	ORPHA:98850
HP:0031284	Flushing	171023	ASXL1	ORPHA:98849
HP:0031284	Flushing	54790	TET2	ORPHA:98850
HP:0031284	Flushing	54790	TET2	ORPHA:98849
HP:0031284	Flushing	867	CBL	ORPHA:98850
HP:0031284	Flushing	861	RUNX1	ORPHA:98850
HP:0031284	Flushing	6427	SRSF2	ORPHA:98850
HP:0031284	Flushing	6427	SRSF2	ORPHA:98849
HP:0031284	Flushing	84196	USP48	ORPHA:96253
HP:0031284	Flushing	7157	TP53	ORPHA:96253
HP:0031284	Flushing	9101	USP8	ORPHA:96253
HP:0031284	Flushing	64072	CDH23	ORPHA:96253
HP:0031284	Flushing	2908	NR3C1	ORPHA:96253
HP:0031284	Flushing	673	BRAF	ORPHA:96253
HP:0031284	Flushing	546	ATRX	ORPHA:96253
HP:0031284	Flushing	4128	MAOA	OMIM:300615
HP:0031284	Flushing	7428	VHL	ORPHA:29072
HP:0031284	Flushing	7428	VHL	ORPHA:276621
HP:0031284	Flushing	1743	DLST	ORPHA:29072
HP:0031284	Flushing	4191	MDH2	ORPHA:29072
HP:0031284	Flushing	6389	SDHA	ORPHA:29072
HP:0031284	Flushing	23095	KIF1B	ORPHA:29072
HP:0031284	Flushing	2271	FH	ORPHA:29072
HP:0031284	Flushing	8402	SLC25A11	ORPHA:29072
HP:0031284	Flushing	54949	SDHAF2	ORPHA:29072
HP:0031284	Flushing	55654	TMEM127	ORPHA:29072
HP:0031284	Flushing	4763	NF1	ORPHA:29072
HP:0031284	Flushing	6391	SDHC	ORPHA:29072
HP:0031284	Flushing	6392	SDHD	ORPHA:29072
HP:0031284	Flushing	6392	SDHD	ORPHA:276621
HP:0031284	Flushing	6390	SDHB	ORPHA:29072
HP:0031284	Flushing	6390	SDHB	ORPHA:276621
HP:0031284	Flushing	4149	MAX	ORPHA:29072
HP:0031284	Flushing	3815	KIT	ORPHA:98849
HP:0031284	Flushing	3815	KIT	ORPHA:79455
HP:0031284	Flushing	773	CACNA1A	ORPHA:2131
HP:0031284	Flushing	6507	SLC1A3	ORPHA:2131
HP:0031284	Flushing	477	ATP1A2	ORPHA:2131
HP:0031284	Flushing	478	ATP1A3	ORPHA:2131
HP:0031284	Flushing	6335	SCN9A	OMIM:167400
HP:0031284	Flushing	1788	DNMT3A	ORPHA:276621
HP:0031284	Flushing	2034	EPAS1	ORPHA:276621
HP:0031284	Flushing	6261	RYR1	ORPHA:466650
HP:0031284	Flushing	3248	HPGD	OMIM:259100
HP:0031284	Flushing	8131	NPRL3	ORPHA:98820
HP:0031284	Flushing	10641	NPRL2	ORPHA:98820
HP:0031284	Flushing	9681	DEPDC5	ORPHA:98820
HP:0031284	Flushing	64324	NSD1	ORPHA:821
HP:0031284	Flushing	29072	SETD2	ORPHA:821
HP:0031284	Flushing	10297	APC2	ORPHA:821
HP:0031284	Flushing	3172	HNF4A	OMIM:125850
HP:0031284	Flushing	30817	ADGRE2	OMIM:125630
HP:0031285	Abnormal perifollicular morphology	3887	KRT81	OMIM:158000
HP:0031285	Abnormal perifollicular morphology	3889	KRT83	OMIM:158000
HP:0031285	Abnormal perifollicular morphology	3892	KRT86	OMIM:158000
HP:0031285	Abnormal perifollicular morphology	3122	HLA-DRA	ORPHA:505
HP:0031285	Abnormal perifollicular morphology	51360	MBTPS2	OMIM:308800
HP:0031285	Abnormal perifollicular morphology	4035	LRP1	OMIM:604093
HP:0031287	Seborrheic keratosis	2072	ERCC4	OMIM:278760
HP:0031287	Seborrheic keratosis	5290	PIK3CA	OMIM:182000
HP:0031287	Seborrheic keratosis	4913	NTHL1	ORPHA:454840
HP:0031288	Cobblestone-like hyperkeratosis	10804	GJB6	ORPHA:189
HP:0031288	Cobblestone-like hyperkeratosis	2706	GJB2	OMIM:602540
HP:0031288	Cobblestone-like hyperkeratosis	2050	EPHB4	ORPHA:90186
HP:0031289	White papule	1080	CFTR	ORPHA:498359
HP:0100380	Aplasia of the distal phalanx of the 5th toe	3782	KCNN3	OMIM:618658
HP:0100381	Absent middle phalanx of the 3rd toe	285203	EOGT	OMIM:615297
HP:0100382	Aplasia of the middle phalanx of the 4th toe	285203	EOGT	OMIM:615297
HP:0100387	Aplasia of the middle phalanges of the toes	285203	EOGT	OMIM:615297
HP:0100387	Aplasia of the middle phalanges of the toes	8200	GDF5	ORPHA:2098
HP:0100387	Aplasia of the middle phalanges of the toes	658	BMPR1B	ORPHA:2098
HP:0031290	Tuberous xanthoma	1593	CYP27A1	OMIM:213700
HP:0031290	Tuberous xanthoma	64241	ABCG8	OMIM:210250
HP:0031290	Tuberous xanthoma	64788	LMF1	OMIM:246650
HP:0031291	Ichthyosis follicularis	51360	MBTPS2	OMIM:308205
HP:0031291	Ichthyosis follicularis	6720	SREBF1	OMIM:619016
HP:0031292	Cutaneous abscess	2000	ELF4	OMIM:301074
HP:0031292	Cutaneous abscess	7040	TGFB1	OMIM:618213
HP:0031292	Cutaneous abscess	79415	CYBC1	OMIM:618935
HP:0031292	Cutaneous abscess	92579	G6PC3	OMIM:612541
HP:0031292	Cutaneous abscess	3587	IL10RA	OMIM:613148
HP:0031292	Cutaneous abscess	22806	IKZF3	OMIM:619437
HP:0031292	Cutaneous abscess	3588	IL10RB	OMIM:612567
HP:0031292	Cutaneous abscess	8737	RIPK1	OMIM:618108
HP:0031292	Cutaneous abscess	3110	MNX1	OMIM:176450
HP:0031292	Cutaneous abscess	1991	ELANE	ORPHA:2686
HP:0031292	Cutaneous abscess	84905	ZNF341	OMIM:618282
HP:0031292	Cutaneous abscess	219972	MPEG1	OMIM:619223
HP:0031292	Cutaneous abscess	6774	STAT3	OMIM:147060
HP:0031292	Cutaneous abscess	3572	IL6ST	OMIM:619752
HP:0031292	Cutaneous abscess	146206	CARMIL2	OMIM:618131
HP:0031292	Cutaneous abscess	5238	PGM3	ORPHA:443811
HP:0031292	Cutaneous abscess	3551	IKBKB	OMIM:618204
HP:0031292	Cutaneous abscess	90268	OTULIN	OMIM:619986
HP:0031292	Cutaneous abscess	3570	IL6R	OMIM:618944
HP:0031292	Cutaneous abscess	23765	IL17RA	OMIM:613953
HP:0031292	Cutaneous abscess	695	BTK	ORPHA:47
HP:0031292	Cutaneous abscess	10804	GJB6	ORPHA:477
HP:0031292	Cutaneous abscess	2706	GJB2	ORPHA:477
HP:0031292	Cutaneous abscess	3937	LCP2	OMIM:619374
HP:0031292	Cutaneous abscess	7319	UBE2A	ORPHA:163956
HP:0031292	Cutaneous abscess	55851	PSENEN	OMIM:613736
HP:0031292	Cutaneous abscess	5663	PSEN1	OMIM:613737
HP:0031292	Cutaneous abscess	1075	CTSC	ORPHA:678
HP:0031293	Digital pitting scar	56983	POGLUT1	ORPHA:79145
HP:0031293	Digital pitting scar	3852	KRT5	ORPHA:79145
HP:0031293	Digital pitting scar	23509	POFUT1	ORPHA:79145
HP:0031293	Digital pitting scar	55851	PSENEN	ORPHA:79145
HP:0031295	Left atrial enlargement	5337	PLD1	OMIM:212093
HP:0031295	Left atrial enlargement	7137	TNNI3	OMIM:115210
HP:0031295	Left atrial enlargement	7137	TNNI3	ORPHA:75249
HP:0031295	Left atrial enlargement	80206	FHOD3	OMIM:619402
HP:0031295	Left atrial enlargement	4633	MYL2	OMIM:619424
HP:0031295	Left atrial enlargement	442721	LMOD2	OMIM:619897
HP:0031295	Left atrial enlargement	151648	SGO1	OMIM:616201
HP:0031295	Left atrial enlargement	6331	SCN5A	OMIM:614022
HP:0031295	Left atrial enlargement	2318	FLNC	OMIM:617047
HP:0031295	Left atrial enlargement	2318	FLNC	ORPHA:75249
HP:0031295	Left atrial enlargement	54914	FOCAD	OMIM:619991
HP:0031295	Left atrial enlargement	9631	NUP155	OMIM:615770
HP:0031295	Left atrial enlargement	8260	NAA10	OMIM:300855
HP:0031295	Left atrial enlargement	6324	SCN1B	OMIM:615377
HP:0031295	Left atrial enlargement	4878	NPPA	OMIM:612201
HP:0031295	Left atrial enlargement	8815	BANF1	OMIM:614008
HP:0031295	Left atrial enlargement	2997	GYS1	OMIM:611556
HP:0031295	Left atrial enlargement	84665	MYPN	ORPHA:75249
HP:0031295	Left atrial enlargement	7139	TNNT2	ORPHA:75249
HP:0031295	Left atrial enlargement	10112	KIF20A	ORPHA:75249
HP:0031295	Left atrial enlargement	4634	MYL3	OMIM:608751
HP:0031295	Left atrial enlargement	2273	FHL1	OMIM:300280
HP:0031295	Left atrial enlargement	7092	TLL1	ORPHA:99106
HP:0031295	Left atrial enlargement	4625	MYH7	OMIM:160500
HP:0031298	Coronary sinus enlargement	745	MYRF	OMIM:618280
HP:0031298	Coronary sinus enlargement	55181	SMG8	OMIM:619268
HP:0031298	Coronary sinus enlargement	10526	IPO8	OMIM:619472
HP:0100391	Short distal phalanx of the 5th toe	57492	ARID1B	OMIM:135900
HP:0100394	Short middle phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0002900	Hypokalemia	1497	CTNS	OMIM:219800
HP:0002900	Hypokalemia	1497	CTNS	ORPHA:411629
HP:0002900	Hypokalemia	1497	CTNS	ORPHA:411634
HP:0002900	Hypokalemia	7809	BSND	ORPHA:89938
HP:0002900	Hypokalemia	7809	BSND	OMIM:602522
HP:0002900	Hypokalemia	1188	CLCNKB	ORPHA:89938
HP:0002900	Hypokalemia	1188	CLCNKB	OMIM:613090
HP:0002900	Hypokalemia	1188	CLCNKB	OMIM:607364
HP:0002900	Hypokalemia	1188	CLCNKB	ORPHA:358
HP:0002900	Hypokalemia	1187	CLCNKA	ORPHA:89938
HP:0002900	Hypokalemia	1187	CLCNKA	OMIM:613090
HP:0002900	Hypokalemia	6338	SCNN1B	OMIM:177200
HP:0002900	Hypokalemia	6338	SCNN1B	ORPHA:526
HP:0002900	Hypokalemia	5311	PKD2	OMIM:613095
HP:0002900	Hypokalemia	776	CACNA1D	OMIM:615474
HP:0002900	Hypokalemia	776	CACNA1D	ORPHA:369929
HP:0002900	Hypokalemia	6521	SLC4A1	OMIM:611590
HP:0002900	Hypokalemia	6521	SLC4A1	OMIM:179800
HP:0002900	Hypokalemia	6329	SCN4A	OMIM:170400
HP:0002900	Hypokalemia	6329	SCN4A	OMIM:613345
HP:0002900	Hypokalemia	6329	SCN4A	ORPHA:682
HP:0002900	Hypokalemia	779	CACNA1S	OMIM:170400
HP:0002900	Hypokalemia	779	CACNA1S	OMIM:188580
HP:0002900	Hypokalemia	3643	INSR	ORPHA:508
HP:0002900	Hypokalemia	3643	INSR	ORPHA:769
HP:0002900	Hypokalemia	8021	NUP214	OMIM:618426
HP:0002900	Hypokalemia	3291	HSD11B2	OMIM:218030
HP:0002900	Hypokalemia	3291	HSD11B2	ORPHA:320
HP:0002900	Hypokalemia	2908	NR3C1	ORPHA:786
HP:0002900	Hypokalemia	3766	KCNJ10	ORPHA:199343
HP:0002900	Hypokalemia	3766	KCNJ10	OMIM:612780
HP:0002900	Hypokalemia	6514	SLC2A2	OMIM:227810
HP:0002900	Hypokalemia	6340	SCNN1G	OMIM:618114
HP:0002900	Hypokalemia	6340	SCNN1G	ORPHA:526
HP:0002900	Hypokalemia	2628	GATM	OMIM:134600
HP:0002900	Hypokalemia	2628	GATM	ORPHA:3337
HP:0002900	Hypokalemia	1584	CYP11B1	OMIM:202010
HP:0002900	Hypokalemia	1584	CYP11B1	ORPHA:90795
HP:0002900	Hypokalemia	1584	CYP11B1	ORPHA:403
HP:0002900	Hypokalemia	476	ATP1A1	OMIM:618314
HP:0002900	Hypokalemia	1811	SLC26A3	OMIM:214700
HP:0002900	Hypokalemia	866	SERPINA6	OMIM:611489
HP:0002900	Hypokalemia	4952	OCRL	ORPHA:534
HP:0002900	Hypokalemia	1586	CYP17A1	ORPHA:90793
HP:0002900	Hypokalemia	1962	EHHADH	ORPHA:3337
HP:0002900	Hypokalemia	137682	NDUFAF6	ORPHA:3337
HP:0002900	Hypokalemia	6569	SLC34A1	ORPHA:3337
HP:0002900	Hypokalemia	58528	RRAGD	OMIM:620152
HP:0002900	Hypokalemia	801	CALM1	ORPHA:101016
HP:0002900	Hypokalemia	3753	KCNE1	ORPHA:101016
HP:0002900	Hypokalemia	3762	KCNJ5	ORPHA:101016
HP:0002900	Hypokalemia	3762	KCNJ5	OMIM:613677
HP:0002900	Hypokalemia	3762	KCNJ5	ORPHA:251274
HP:0002900	Hypokalemia	805	CALM2	ORPHA:101016
HP:0002900	Hypokalemia	6910	TBX5	ORPHA:101016
HP:0002900	Hypokalemia	6336	SCN10A	ORPHA:101016
HP:0002900	Hypokalemia	3757	KCNH2	ORPHA:101016
HP:0002900	Hypokalemia	9992	KCNE2	ORPHA:101016
HP:0002900	Hypokalemia	10142	AKAP9	ORPHA:101016
HP:0002900	Hypokalemia	9722	NOS1AP	ORPHA:101016
HP:0002900	Hypokalemia	775	CACNA1C	ORPHA:101016
HP:0002900	Hypokalemia	3784	KCNQ1	ORPHA:101016
HP:0002900	Hypokalemia	10345	TRDN	ORPHA:101016
HP:0002900	Hypokalemia	6331	SCN5A	ORPHA:101016
HP:0002900	Hypokalemia	6330	SCN4B	ORPHA:101016
HP:0002900	Hypokalemia	808	CALM3	ORPHA:101016
HP:0002900	Hypokalemia	6640	SNTA1	ORPHA:101016
HP:0002900	Hypokalemia	859	CAV3	ORPHA:101016
HP:0002900	Hypokalemia	287	ANK2	ORPHA:101016
HP:0002900	Hypokalemia	10916	MAGED2	OMIM:300971
HP:0002900	Hypokalemia	8671	SLC4A4	OMIM:604278
HP:0002900	Hypokalemia	486	FXYD2	OMIM:154020
HP:0002900	Hypokalemia	9071	CLDN10	OMIM:617671
HP:0002900	Hypokalemia	55898	UNC45A	OMIM:619377
HP:0002900	Hypokalemia	6337	SCNN1A	OMIM:618126
HP:0002900	Hypokalemia	6337	SCNN1A	ORPHA:526
HP:0002900	Hypokalemia	4089	SMAD4	OMIM:174900
HP:0002900	Hypokalemia	657	BMPR1A	OMIM:174900
HP:0002900	Hypokalemia	50619	DEF6	OMIM:619573
HP:0002900	Hypokalemia	50628	GEMIN4	OMIM:617913
HP:0002900	Hypokalemia	100134444	KCNJ18	OMIM:613239
HP:0002900	Hypokalemia	3759	KCNJ2	OMIM:170390
HP:0002900	Hypokalemia	1181	CLCN2	ORPHA:404
HP:0002900	Hypokalemia	1181	CLCN2	OMIM:605635
HP:0002900	Hypokalemia	84133	ZNRF3	ORPHA:1501
HP:0002900	Hypokalemia	7157	TP53	ORPHA:1501
HP:0002900	Hypokalemia	5573	PRKAR1A	ORPHA:1501
HP:0002900	Hypokalemia	1499	CTNNB1	ORPHA:1501
HP:0002900	Hypokalemia	1029	CDKN2A	ORPHA:1501
HP:0002900	Hypokalemia	7015	TERT	ORPHA:1501
HP:0002900	Hypokalemia	1585	CYP11B2	ORPHA:403
HP:0002900	Hypokalemia	846	CASR	OMIM:601198
HP:0002900	Hypokalemia	50617	ATP6V0A4	OMIM:602722
HP:0002900	Hypokalemia	6557	SLC12A1	OMIM:601678
HP:0002900	Hypokalemia	1281	COL3A1	ORPHA:286
HP:0002900	Hypokalemia	3758	KCNJ1	OMIM:241200
HP:0002900	Hypokalemia	64072	CDH23	ORPHA:91347
HP:0002900	Hypokalemia	6559	SLC12A3	OMIM:263800
HP:0002900	Hypokalemia	6559	SLC12A3	ORPHA:358
HP:0002900	Hypokalemia	9049	AIP	OMIM:219090
HP:0002900	Hypokalemia	9101	USP8	OMIM:219090
HP:0002900	Hypokalemia	10008	KCNE3	ORPHA:681
HP:0002900	Hypokalemia	2556	GABRA3	ORPHA:79102
HP:0002901	Hypocalcemia	9247	GCM2	OMIM:618883
HP:0002901	Hypocalcemia	9247	GCM2	ORPHA:2239
HP:0002901	Hypocalcemia	1594	CYP27B1	OMIM:264700
HP:0002901	Hypocalcemia	1594	CYP27B1	ORPHA:289157
HP:0002901	Hypocalcemia	6905	TBCE	OMIM:241410
HP:0002901	Hypocalcemia	6905	TBCE	ORPHA:93324
HP:0002901	Hypocalcemia	120227	CYP2R1	ORPHA:289157
HP:0002901	Hypocalcemia	2625	GATA3	ORPHA:2237
HP:0002901	Hypocalcemia	7421	VDR	OMIM:277440
HP:0002901	Hypocalcemia	5741	PTH	OMIM:146200
HP:0002901	Hypocalcemia	8792	TNFRSF11A	OMIM:612301
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:94089
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:79443
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:79444
HP:0002901	Hypocalcemia	8675	STX16	ORPHA:94089
HP:0002901	Hypocalcemia	63901	FAM111A	ORPHA:93325
HP:0002901	Hypocalcemia	1576	CYP3A4	OMIM:619073
HP:0002901	Hypocalcemia	83483	PLVAP	OMIM:618183
HP:0002901	Hypocalcemia	10312	TCIRG1	ORPHA:210110
HP:0002901	Hypocalcemia	10312	TCIRG1	OMIM:259700
HP:0002901	Hypocalcemia	10312	TCIRG1	ORPHA:667
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:210110
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:667
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:53
HP:0002901	Hypocalcemia	9842	PLEKHM1	ORPHA:210110
HP:0002901	Hypocalcemia	8074	FGF23	ORPHA:89937
HP:0002901	Hypocalcemia	54914	FOCAD	OMIM:619991
HP:0002901	Hypocalcemia	9508	ADAMTS3	ORPHA:2136
HP:0002901	Hypocalcemia	147372	CCBE1	ORPHA:2136
HP:0002901	Hypocalcemia	79633	FAT4	ORPHA:2136
HP:0002901	Hypocalcemia	857	CAV1	OMIM:612526
HP:0002901	Hypocalcemia	2767	GNA11	ORPHA:428
HP:0002901	Hypocalcemia	2767	GNA11	OMIM:615361
HP:0002901	Hypocalcemia	846	CASR	ORPHA:428
HP:0002901	Hypocalcemia	846	CASR	OMIM:601198
HP:0002901	Hypocalcemia	3032	HADHB	ORPHA:746
HP:0002901	Hypocalcemia	3030	HADHA	ORPHA:746
HP:0002901	Hypocalcemia	10056	FARSB	OMIM:613658
HP:0002901	Hypocalcemia	6261	RYR1	ORPHA:466650
HP:0002901	Hypocalcemia	29887	SNX10	ORPHA:667
HP:0002901	Hypocalcemia	8600	TNFSF11	ORPHA:667
HP:0002901	Hypocalcemia	149775	GNAS-AS1	OMIM:603233
HP:0002901	Hypocalcemia	197131	UBR1	OMIM:243800
HP:0002901	Hypocalcemia	1436	CSF1R	OMIM:618476
HP:0002901	Hypocalcemia	84876	ORAI1	OMIM:615883
HP:0002901	Hypocalcemia	9993	DGCR2	OMIM:192430
HP:0002901	Hypocalcemia	8220	ESS2	OMIM:192430
HP:0002901	Hypocalcemia	8214	DGCR6	OMIM:192430
HP:0002901	Hypocalcemia	54487	DGCR8	OMIM:192430
HP:0002901	Hypocalcemia	6899	TBX1	OMIM:192430
HP:0002901	Hypocalcemia	6899	TBX1	ORPHA:567
HP:0002901	Hypocalcemia	6899	TBX1	OMIM:188400
HP:0002901	Hypocalcemia	23175	LPIN1	ORPHA:99845
HP:0002901	Hypocalcemia	4512	MT-CO1	ORPHA:99845
HP:0002901	Hypocalcemia	4514	MT-CO3	ORPHA:99845
HP:0002901	Hypocalcemia	58528	RRAGD	OMIM:620152
HP:0002901	Hypocalcemia	5495	PPM1B	ORPHA:163693
HP:0002901	Hypocalcemia	6519	SLC3A1	ORPHA:163693
HP:0002901	Hypocalcemia	9581	PREPL	ORPHA:163693
HP:0002901	Hypocalcemia	79823	CAMKMT	ORPHA:163693
HP:0002901	Hypocalcemia	140803	TRPM6	OMIM:602014
HP:0002901	Hypocalcemia	695	BTK	ORPHA:47
HP:0002901	Hypocalcemia	775	CACNA1C	OMIM:601005
HP:0002901	Hypocalcemia	6023	RMRP	ORPHA:175
HP:0002901	Hypocalcemia	6521	SLC4A1	OMIM:179800
HP:0002901	Hypocalcemia	5286	PIK3C2A	OMIM:618440
HP:0002901	Hypocalcemia	5286	PIK3C2A	ORPHA:557003
HP:0002901	Hypocalcemia	50943	FOXP3	ORPHA:37042
HP:0002901	Hypocalcemia	50628	GEMIN4	OMIM:617913
HP:0002901	Hypocalcemia	54532	USP53	OMIM:619658
HP:0002901	Hypocalcemia	3117	HLA-DQA1	OMIM:212750
HP:0002901	Hypocalcemia	3119	HLA-DQB1	OMIM:212750
HP:0002901	Hypocalcemia	1312	COMT	ORPHA:567
HP:0002901	Hypocalcemia	221037	JMJD1C	ORPHA:567
HP:0002901	Hypocalcemia	2812	GP1BB	ORPHA:567
HP:0002901	Hypocalcemia	6239	RREB1	ORPHA:567
HP:0002901	Hypocalcemia	7290	HIRA	ORPHA:567
HP:0002901	Hypocalcemia	9632	SEC24C	ORPHA:567
HP:0002901	Hypocalcemia	7353	UFD1	ORPHA:567
HP:0002901	Hypocalcemia	421	ARVCF	ORPHA:567
HP:0002901	Hypocalcemia	55764	IFT122	OMIM:218330
HP:0002901	Hypocalcemia	79087	ALG12	OMIM:607143
HP:0002901	Hypocalcemia	28962	OSTM1	OMIM:259720
HP:0002901	Hypocalcemia	37	ACADVL	ORPHA:26793
HP:0002901	Hypocalcemia	5573	PRKAR1A	ORPHA:280651
HP:0002901	Hypocalcemia	5144	PDE4D	ORPHA:280651
HP:0002901	Hypocalcemia	55636	CHD7	OMIM:214800
HP:0002901	Hypocalcemia	2783	GNB2	OMIM:619503
HP:0002901	Hypocalcemia	1188	CLCNKB	ORPHA:358
HP:0002901	Hypocalcemia	6559	SLC12A3	ORPHA:358
HP:0002901	Hypocalcemia	760	CA2	ORPHA:2785
HP:0002901	Hypocalcemia	1758	DMP1	ORPHA:289176
HP:0002901	Hypocalcemia	5167	ENPP1	ORPHA:289176
HP:0002901	Hypocalcemia	1497	CTNS	ORPHA:411634
HP:0002902	Hyponatremia	83483	PLVAP	OMIM:618183
HP:0002902	Hyponatremia	1497	CTNS	OMIM:219800
HP:0002902	Hyponatremia	1497	CTNS	ORPHA:411634
HP:0002902	Hyponatremia	7809	BSND	ORPHA:89938
HP:0002902	Hyponatremia	7809	BSND	OMIM:602522
HP:0002902	Hyponatremia	1188	CLCNKB	ORPHA:89938
HP:0002902	Hyponatremia	1188	CLCNKB	OMIM:613090
HP:0002902	Hyponatremia	1187	CLCNKA	ORPHA:89938
HP:0002902	Hyponatremia	1187	CLCNKA	OMIM:613090
HP:0002902	Hyponatremia	5076	PAX2	ORPHA:97362
HP:0002902	Hyponatremia	5087	PBX1	ORPHA:97362
HP:0002902	Hyponatremia	4791	NFKB2	ORPHA:293978
HP:0002902	Hyponatremia	5447	POR	OMIM:201750
HP:0002902	Hyponatremia	54809	SAMD9	OMIM:617053
HP:0002902	Hyponatremia	54914	FOCAD	OMIM:619991
HP:0002902	Hyponatremia	8518	ELP1	ORPHA:1764
HP:0002902	Hyponatremia	8021	NUP214	OMIM:618426
HP:0002902	Hyponatremia	10102	TSFM	OMIM:610505
HP:0002902	Hyponatremia	5551	PRF1	OMIM:603553
HP:0002902	Hyponatremia	190	NR0B1	OMIM:300200
HP:0002902	Hyponatremia	6340	SCNN1G	ORPHA:171876
HP:0002902	Hyponatremia	6340	SCNN1G	OMIM:620126
HP:0002902	Hyponatremia	6337	SCNN1A	ORPHA:171876
HP:0002902	Hyponatremia	6337	SCNN1A	OMIM:264350
HP:0002902	Hyponatremia	6338	SCNN1B	ORPHA:171876
HP:0002902	Hyponatremia	6338	SCNN1B	OMIM:620125
HP:0002902	Hyponatremia	4306	NR3C2	OMIM:177735
HP:0002902	Hyponatremia	1811	SLC26A3	OMIM:214700
HP:0002902	Hyponatremia	29072	SETD2	OMIM:620157
HP:0002902	Hyponatremia	29072	SETD2	OMIM:620155
HP:0002902	Hyponatremia	3662	IRF4	ORPHA:3452
HP:0002902	Hyponatremia	471	ATIC	OMIM:608688
HP:0002902	Hyponatremia	3284	HSD3B2	ORPHA:90791
HP:0002902	Hyponatremia	3284	HSD3B2	OMIM:201810
HP:0002902	Hyponatremia	4952	OCRL	ORPHA:534
HP:0002902	Hyponatremia	199221	DZIP1L	ORPHA:731
HP:0002902	Hyponatremia	5314	PKHD1	ORPHA:731
HP:0002902	Hyponatremia	771	CA12	OMIM:143860
HP:0002902	Hyponatremia	58528	RRAGD	OMIM:620152
HP:0002902	Hyponatremia	10916	MAGED2	OMIM:300971
HP:0002902	Hyponatremia	9095	TBX19	ORPHA:199296
HP:0002902	Hyponatremia	210	ALAD	ORPHA:100924
HP:0002902	Hyponatremia	554	AVPR2	OMIM:300539
HP:0002902	Hyponatremia	1583	CYP11A1	ORPHA:168558
HP:0002902	Hyponatremia	1583	CYP11A1	ORPHA:289548
HP:0002902	Hyponatremia	50628	GEMIN4	OMIM:617913
HP:0002902	Hyponatremia	1585	CYP11B2	OMIM:203400
HP:0002902	Hyponatremia	1585	CYP11B2	OMIM:610600
HP:0002902	Hyponatremia	1585	CYP11B2	ORPHA:556030
HP:0002902	Hyponatremia	51567	TDP2	OMIM:616949
HP:0002902	Hyponatremia	79087	ALG12	ORPHA:79324
HP:0002902	Hyponatremia	9451	EIF2AK3	ORPHA:1667
HP:0002902	Hyponatremia	79053	ALG8	ORPHA:79325
HP:0002902	Hyponatremia	1130	LYST	ORPHA:167
HP:0002902	Hyponatremia	56246	MRAP	ORPHA:361
HP:0002902	Hyponatremia	6770	STAR	ORPHA:361
HP:0002902	Hyponatremia	4158	MC2R	ORPHA:361
HP:0002902	Hyponatremia	23530	NNT	ORPHA:361
HP:0002902	Hyponatremia	23530	NNT	OMIM:614736
HP:0002902	Hyponatremia	10587	TXNRD2	ORPHA:361
HP:0002902	Hyponatremia	6329	SCN4A	ORPHA:682
HP:0002902	Hyponatremia	4714	NDUFB8	OMIM:618252
HP:0002902	Hyponatremia	1371	CPOX	ORPHA:79273
HP:0002902	Hyponatremia	5498	PPOX	ORPHA:79473
HP:0002902	Hyponatremia	54938	SARS2	OMIM:613845
HP:0002902	Hyponatremia	3145	HMBS	ORPHA:79276
HP:0002902	Hyponatremia	7187	TRAF3	ORPHA:1930
HP:0002902	Hyponatremia	81622	UNC93B1	ORPHA:1930
HP:0002902	Hyponatremia	148022	TICAM1	ORPHA:1930
HP:0002902	Hyponatremia	7098	TLR3	ORPHA:1930
HP:0002902	Hyponatremia	29110	TBK1	ORPHA:1930
HP:0002904	Hyperbilirubinemia	4953	ODC1	OMIM:619075
HP:0002904	Hyperbilirubinemia	229	ALDOB	OMIM:229600
HP:0002904	Hyperbilirubinemia	54914	FOCAD	OMIM:619991
HP:0002904	Hyperbilirubinemia	2936	GSR	OMIM:618660
HP:0002904	Hyperbilirubinemia	6711	SPTBN1	OMIM:619475
HP:0002904	Hyperbilirubinemia	222546	RFX6	OMIM:615710
HP:0002904	Hyperbilirubinemia	100151683	RNU4ATAC	OMIM:210710
HP:0002904	Hyperbilirubinemia	132	ADK	OMIM:614300
HP:0002904	Hyperbilirubinemia	57539	WDR35	OMIM:613610
HP:0002904	Hyperbilirubinemia	9420	CYP7B1	OMIM:613812
HP:0002904	Hyperbilirubinemia	9420	CYP7B1	ORPHA:79302
HP:0002904	Hyperbilirubinemia	23600	AMACR	OMIM:214950
HP:0002904	Hyperbilirubinemia	286	ANK1	OMIM:182900
HP:0002904	Hyperbilirubinemia	286	ANK1	ORPHA:822
HP:0002904	Hyperbilirubinemia	2038	EPB42	ORPHA:822
HP:0002904	Hyperbilirubinemia	7849	PAX8	OMIM:218700
HP:0002904	Hyperbilirubinemia	5443	POMC	OMIM:609734
HP:0002904	Hyperbilirubinemia	6573	SLC19A1	OMIM:601775
HP:0002904	Hyperbilirubinemia	55610	VPS50	OMIM:619685
HP:0002904	Hyperbilirubinemia	6514	SLC2A2	OMIM:227810
HP:0002904	Hyperbilirubinemia	374879	ZNF699	OMIM:619488
HP:0002904	Hyperbilirubinemia	5244	ABCB4	ORPHA:69665
HP:0002904	Hyperbilirubinemia	3098	HK1	OMIM:235700
HP:0002904	Hyperbilirubinemia	226	ALDOA	OMIM:611881
HP:0002904	Hyperbilirubinemia	5015	OTX2	OMIM:613986
HP:0002904	Hyperbilirubinemia	9338	TCEAL1	OMIM:301094
HP:0002904	Hyperbilirubinemia	540	ATP7B	OMIM:277900
HP:0002904	Hyperbilirubinemia	2271	FH	OMIM:606812
HP:0002904	Hyperbilirubinemia	9968	MED12	OMIM:301068
HP:0002904	Hyperbilirubinemia	9493	KIF23	ORPHA:98870
HP:0002904	Hyperbilirubinemia	29127	RACGAP1	ORPHA:98870
HP:0002904	Hyperbilirubinemia	55687	TRMU	OMIM:613070
HP:0002904	Hyperbilirubinemia	3930	LBR	OMIM:613471
HP:0002904	Hyperbilirubinemia	8260	NAA10	OMIM:300855
HP:0002904	Hyperbilirubinemia	5824	PEX19	OMIM:614886
HP:0002904	Hyperbilirubinemia	9451	EIF2AK3	ORPHA:1667
HP:0002904	Hyperbilirubinemia	1716	DGUOK	OMIM:251880
HP:0002904	Hyperbilirubinemia	28962	OSTM1	OMIM:259720
HP:0002904	Hyperbilirubinemia	4547	MTTP	ORPHA:14
HP:0002904	Hyperbilirubinemia	5825	ABCD3	OMIM:616278
HP:0002904	Hyperbilirubinemia	146059	CDAN1	OMIM:224120
HP:0002904	Hyperbilirubinemia	5230	PGK1	ORPHA:713
HP:0002904	Hyperbilirubinemia	6006	RHCE	ORPHA:71275
HP:0002904	Hyperbilirubinemia	6007	RHD	ORPHA:71275
HP:0002904	Hyperbilirubinemia	6309	SC5D	OMIM:607330
HP:0002904	Hyperbilirubinemia	1244	ABCC2	ORPHA:234
HP:0002904	Hyperbilirubinemia	1244	ABCC2	OMIM:237500
HP:0002904	Hyperbilirubinemia	80270	HSD3B7	OMIM:607765
HP:0002904	Hyperbilirubinemia	3376	IARS1	OMIM:617093
HP:0002904	Hyperbilirubinemia	8647	ABCB11	OMIM:601847
HP:0002904	Hyperbilirubinemia	8647	ABCB11	OMIM:605479
HP:0002904	Hyperbilirubinemia	79989	IFT56	OMIM:619534
HP:0002904	Hyperbilirubinemia	51218	GLRX5	OMIM:616860
HP:0002904	Hyperbilirubinemia	26503	SLC17A5	OMIM:269920
HP:0002904	Hyperbilirubinemia	570	BAAT	OMIM:619232
HP:0002904	Hyperbilirubinemia	7019	TFAM	OMIM:617156
HP:0002904	Hyperbilirubinemia	11232	POLG2	OMIM:618528
HP:0002904	Hyperbilirubinemia	5828	PEX2	OMIM:614866
HP:0002904	Hyperbilirubinemia	5205	ATP8B1	OMIM:211600
HP:0002904	Hyperbilirubinemia	5205	ATP8B1	OMIM:243300
HP:0002904	Hyperbilirubinemia	5195	PEX14	OMIM:614887
HP:0002904	Hyperbilirubinemia	6513	SLC2A1	ORPHA:168577
HP:0002904	Hyperbilirubinemia	6513	SLC2A1	OMIM:608885
HP:0002904	Hyperbilirubinemia	28234	SLCO1B3	OMIM:237450
HP:0002904	Hyperbilirubinemia	28234	SLCO1B3	ORPHA:3111
HP:0002904	Hyperbilirubinemia	10599	SLCO1B1	OMIM:237450
HP:0002904	Hyperbilirubinemia	10599	SLCO1B1	ORPHA:3111
HP:0002904	Hyperbilirubinemia	5314	PKHD1	ORPHA:53035
HP:0002904	Hyperbilirubinemia	6718	AKR1D1	ORPHA:79303
HP:0002904	Hyperbilirubinemia	10165	SLC25A13	OMIM:605814
HP:0002904	Hyperbilirubinemia	197131	UBR1	OMIM:243800
HP:0002904	Hyperbilirubinemia	3594	IL12RB1	ORPHA:186
HP:0002904	Hyperbilirubinemia	23534	TNPO3	ORPHA:186
HP:0002904	Hyperbilirubinemia	3592	IL12A	ORPHA:186
HP:0002904	Hyperbilirubinemia	6689	SPIB	ORPHA:186
HP:0002904	Hyperbilirubinemia	5450	POU2AF1	ORPHA:186
HP:0002904	Hyperbilirubinemia	9966	TNFSF15	ORPHA:186
HP:0002904	Hyperbilirubinemia	79258	MMEL1	ORPHA:186
HP:0002904	Hyperbilirubinemia	3663	IRF5	ORPHA:186
HP:0002904	Hyperbilirubinemia	26276	VPS33B	OMIM:208085
HP:0002904	Hyperbilirubinemia	26276	VPS33B	OMIM:620010
HP:0002904	Hyperbilirubinemia	200931	SLC51A	OMIM:619484
HP:0002904	Hyperbilirubinemia	113220	KIF12	OMIM:619662
HP:0002904	Hyperbilirubinemia	9971	NR1H4	OMIM:617049
HP:0002904	Hyperbilirubinemia	63894	VIPAS39	OMIM:613404
HP:0002904	Hyperbilirubinemia	4645	MYO5B	OMIM:619868
HP:0002904	Hyperbilirubinemia	2035	EPB41	ORPHA:288
HP:0002904	Hyperbilirubinemia	2995	GYPC	ORPHA:288
HP:0002904	Hyperbilirubinemia	6710	SPTB	ORPHA:288
HP:0002904	Hyperbilirubinemia	6708	SPTA1	ORPHA:288
HP:0002904	Hyperbilirubinemia	6708	SPTA1	OMIM:130600
HP:0002904	Hyperbilirubinemia	3479	IGF1	ORPHA:73272
HP:0002904	Hyperbilirubinemia	7355	SLC35A2	OMIM:300896
HP:0002904	Hyperbilirubinemia	1371	CPOX	OMIM:618892
HP:0002904	Hyperbilirubinemia	2876	GPX1	OMIM:614164
HP:0002904	Hyperbilirubinemia	405753	DUOXA2	ORPHA:95716
HP:0002904	Hyperbilirubinemia	6528	SLC5A5	ORPHA:95716
HP:0002904	Hyperbilirubinemia	7038	TG	ORPHA:95716
HP:0002904	Hyperbilirubinemia	7173	TPO	ORPHA:95716
HP:0002904	Hyperbilirubinemia	389434	IYD	ORPHA:95716
HP:0002904	Hyperbilirubinemia	50506	DUOX2	ORPHA:95716
HP:0002904	Hyperbilirubinemia	7319	UBE2A	ORPHA:163956
HP:0002904	Hyperbilirubinemia	5048	PAFAH1B1	ORPHA:95232
HP:0002904	Hyperbilirubinemia	6521	SLC4A1	ORPHA:3202
HP:0002904	Hyperbilirubinemia	9780	PIEZO1	ORPHA:3202
HP:0002904	Hyperbilirubinemia	3783	KCNN4	ORPHA:3202
HP:0002904	Hyperbilirubinemia	7253	TSHR	ORPHA:90673
HP:0002904	Hyperbilirubinemia	7252	TSHB	ORPHA:90674
HP:0002904	Hyperbilirubinemia	2203	FBP1	ORPHA:348
HP:0002904	Hyperbilirubinemia	5551	PRF1	OMIM:603553
HP:0002904	Hyperbilirubinemia	1376	CPT2	OMIM:608836
HP:0002904	Hyperbilirubinemia	51601	LIPT1	OMIM:616299
HP:0002904	Hyperbilirubinemia	5213	PFKM	OMIM:232800
HP:0002904	Hyperbilirubinemia	11231	SEC63	ORPHA:2924
HP:0002904	Hyperbilirubinemia	5589	PRKCSH	ORPHA:2924
HP:0002904	Hyperbilirubinemia	5589	PRKCSH	OMIM:174050
HP:0002904	Hyperbilirubinemia	4041	LRP5	ORPHA:2924
HP:0002904	Hyperbilirubinemia	51473	DCDC2	ORPHA:84081
HP:0002904	Hyperbilirubinemia	91147	TMEM67	ORPHA:84081
HP:0002904	Hyperbilirubinemia	5313	PKLR	OMIM:266200
HP:0002904	Hyperbilirubinemia	5313	PKLR	ORPHA:766
HP:0002904	Hyperbilirubinemia	3043	HBB	ORPHA:232
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	OMIM:218800
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	OMIM:606785
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	ORPHA:79234
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	ORPHA:79235
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	OMIM:143500
HP:0002904	Hyperbilirubinemia	55532	SLC30A10	OMIM:613280
HP:0002904	Hyperbilirubinemia	6554	SLC10A1	OMIM:619256
HP:0002904	Hyperbilirubinemia	374354	NHLRC2	OMIM:618278
HP:0002904	Hyperbilirubinemia	10661	KLF1	OMIM:613673
HP:0002904	Hyperbilirubinemia	8573	CASK	OMIM:300908
HP:0002904	Hyperbilirubinemia	2539	G6PD	OMIM:300908
HP:0002904	Hyperbilirubinemia	6005	RHAG	OMIM:268150
HP:0002904	Hyperbilirubinemia	10056	FARSB	OMIM:613658
HP:0002904	Hyperbilirubinemia	7390	UROS	ORPHA:79277
HP:0002904	Hyperbilirubinemia	2623	GATA1	ORPHA:79277
HP:0002904	Hyperbilirubinemia	8085	KMT2D	OMIM:620186
HP:0002904	Hyperbilirubinemia	5277	PIGA	ORPHA:447
HP:0002905	Hyperphosphatemia	9247	GCM2	OMIM:618883
HP:0002905	Hyperphosphatemia	9247	GCM2	ORPHA:2239
HP:0002905	Hyperphosphatemia	9365	KL	OMIM:617994
HP:0002905	Hyperphosphatemia	6905	TBCE	OMIM:241410
HP:0002905	Hyperphosphatemia	6905	TBCE	ORPHA:2323
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:612462
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:94089
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79443
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79444
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79445
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:603233
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:103580
HP:0002905	Hyperphosphatemia	5741	PTH	OMIM:146200
HP:0002905	Hyperphosphatemia	2591	GALNT3	OMIM:211900
HP:0002905	Hyperphosphatemia	2767	GNA11	ORPHA:428
HP:0002905	Hyperphosphatemia	846	CASR	ORPHA:428
HP:0002905	Hyperphosphatemia	846	CASR	OMIM:601198
HP:0002905	Hyperphosphatemia	63901	FAM111A	OMIM:127000
HP:0002905	Hyperphosphatemia	63901	FAM111A	ORPHA:93325
HP:0002905	Hyperphosphatemia	6261	RYR1	ORPHA:466650
HP:0002905	Hyperphosphatemia	6261	RYR1	ORPHA:423
HP:0002905	Hyperphosphatemia	6261	RYR1	OMIM:145600
HP:0002905	Hyperphosphatemia	8675	STX16	ORPHA:94089
HP:0002905	Hyperphosphatemia	8675	STX16	OMIM:603233
HP:0002905	Hyperphosphatemia	779	CACNA1S	ORPHA:423
HP:0002905	Hyperphosphatemia	5573	PRKAR1A	ORPHA:280651
HP:0002905	Hyperphosphatemia	5573	PRKAR1A	OMIM:101800
HP:0002905	Hyperphosphatemia	5144	PDE4D	ORPHA:280651
HP:0002905	Hyperphosphatemia	4982	TNFRSF11B	OMIM:239000
HP:0002905	Hyperphosphatemia	149775	GNAS-AS1	OMIM:603233
HP:0002905	Hyperphosphatemia	23175	LPIN1	ORPHA:99845
HP:0002905	Hyperphosphatemia	4512	MT-CO1	ORPHA:99845
HP:0002905	Hyperphosphatemia	4514	MT-CO3	ORPHA:99845
HP:0002907	Microscopic hematuria	1497	CTNS	OMIM:219800
HP:0002907	Microscopic hematuria	1497	CTNS	ORPHA:411634
HP:0002907	Microscopic hematuria	9663	LPIN2	ORPHA:77297
HP:0002907	Microscopic hematuria	5076	PAX2	ORPHA:97362
HP:0002907	Microscopic hematuria	5087	PBX1	ORPHA:97362
HP:0002907	Microscopic hematuria	9722	NOS1AP	OMIM:619155
HP:0002907	Microscopic hematuria	8029	CUBN	OMIM:261100
HP:0002907	Microscopic hematuria	4010	LMX1B	ORPHA:2613
HP:0002907	Microscopic hematuria	64423	INF2	OMIM:613237
HP:0002907	Microscopic hematuria	84823	LMNB2	ORPHA:79087
HP:0002907	Microscopic hematuria	1285	COL4A3	OMIM:104200
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:310468
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:308990
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:300009
HP:0002907	Microscopic hematuria	2335	FN1	ORPHA:84090
HP:0002907	Microscopic hematuria	2335	FN1	OMIM:601894
HP:0002907	Microscopic hematuria	2147	F2	ORPHA:325
HP:0002907	Microscopic hematuria	81494	CFHR5	OMIM:614809
HP:0002907	Microscopic hematuria	23630	KCNE5	ORPHA:86818
HP:0002907	Microscopic hematuria	2182	ACSL4	ORPHA:86818
HP:0002907	Microscopic hematuria	9949	AMMECR1	ORPHA:86818
HP:0002907	Microscopic hematuria	79902	NUP85	OMIM:618176
HP:0002907	Microscopic hematuria	50485	SMARCAL1	ORPHA:1830
HP:0002907	Microscopic hematuria	2542	SLC37A4	OMIM:619525
HP:0002907	Microscopic hematuria	11093	ADAMTS13	OMIM:274150
HP:0002907	Microscopic hematuria	1287	COL4A5	OMIM:301050
HP:0002908	Conjugated hyperbilirubinemia	1244	ABCC2	ORPHA:234
HP:0002908	Conjugated hyperbilirubinemia	1244	ABCC2	OMIM:237500
HP:0002908	Conjugated hyperbilirubinemia	80270	HSD3B7	OMIM:607765
HP:0002908	Conjugated hyperbilirubinemia	3376	IARS1	OMIM:617093
HP:0002908	Conjugated hyperbilirubinemia	8647	ABCB11	OMIM:601847
HP:0002908	Conjugated hyperbilirubinemia	8647	ABCB11	OMIM:605479
HP:0002908	Conjugated hyperbilirubinemia	79989	IFT56	OMIM:619534
HP:0002908	Conjugated hyperbilirubinemia	51218	GLRX5	OMIM:616860
HP:0002908	Conjugated hyperbilirubinemia	26503	SLC17A5	OMIM:269920
HP:0002908	Conjugated hyperbilirubinemia	570	BAAT	OMIM:619232
HP:0002908	Conjugated hyperbilirubinemia	7019	TFAM	OMIM:617156
HP:0002908	Conjugated hyperbilirubinemia	11232	POLG2	OMIM:618528
HP:0002908	Conjugated hyperbilirubinemia	5828	PEX2	OMIM:614866
HP:0002908	Conjugated hyperbilirubinemia	5205	ATP8B1	OMIM:211600
HP:0002908	Conjugated hyperbilirubinemia	5205	ATP8B1	OMIM:243300
HP:0002908	Conjugated hyperbilirubinemia	5195	PEX14	OMIM:614887
HP:0002908	Conjugated hyperbilirubinemia	6513	SLC2A1	ORPHA:168577
HP:0002908	Conjugated hyperbilirubinemia	6513	SLC2A1	OMIM:608885
HP:0002908	Conjugated hyperbilirubinemia	28234	SLCO1B3	OMIM:237450
HP:0002908	Conjugated hyperbilirubinemia	28234	SLCO1B3	ORPHA:3111
HP:0002908	Conjugated hyperbilirubinemia	10599	SLCO1B1	OMIM:237450
HP:0002908	Conjugated hyperbilirubinemia	10599	SLCO1B1	ORPHA:3111
HP:0002908	Conjugated hyperbilirubinemia	5314	PKHD1	ORPHA:53035
HP:0002908	Conjugated hyperbilirubinemia	6718	AKR1D1	ORPHA:79303
HP:0002908	Conjugated hyperbilirubinemia	10165	SLC25A13	OMIM:605814
HP:0002908	Conjugated hyperbilirubinemia	197131	UBR1	OMIM:243800
HP:0002908	Conjugated hyperbilirubinemia	3594	IL12RB1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	23534	TNPO3	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	3592	IL12A	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	6689	SPIB	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	5450	POU2AF1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	9966	TNFSF15	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	79258	MMEL1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	3663	IRF5	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	26276	VPS33B	OMIM:208085
HP:0002908	Conjugated hyperbilirubinemia	26276	VPS33B	OMIM:620010
HP:0002908	Conjugated hyperbilirubinemia	200931	SLC51A	OMIM:619484
HP:0002908	Conjugated hyperbilirubinemia	113220	KIF12	OMIM:619662
HP:0002908	Conjugated hyperbilirubinemia	9971	NR1H4	OMIM:617049
HP:0002908	Conjugated hyperbilirubinemia	63894	VIPAS39	OMIM:613404
HP:0002908	Conjugated hyperbilirubinemia	4645	MYO5B	OMIM:619868
HP:0002909	Generalized aminoaciduria	2184	FAH	ORPHA:882
HP:0002909	Generalized aminoaciduria	1497	CTNS	OMIM:219800
HP:0002909	Generalized aminoaciduria	6514	SLC2A2	OMIM:227810
HP:0002909	Generalized aminoaciduria	6514	SLC2A2	ORPHA:2088
HP:0002909	Generalized aminoaciduria	1594	CYP27B1	OMIM:264700
HP:0002909	Generalized aminoaciduria	1594	CYP27B1	ORPHA:289157
HP:0002909	Generalized aminoaciduria	120227	CYP2R1	ORPHA:289157
HP:0002909	Generalized aminoaciduria	6569	SLC34A1	OMIM:613388
HP:0002909	Generalized aminoaciduria	6569	SLC34A1	ORPHA:3337
HP:0002909	Generalized aminoaciduria	55768	NGLY1	ORPHA:404454
HP:0002909	Generalized aminoaciduria	2108	ETFA	OMIM:231680
HP:0002909	Generalized aminoaciduria	2109	ETFB	OMIM:231680
HP:0002909	Generalized aminoaciduria	2110	ETFDH	OMIM:231680
HP:0002909	Generalized aminoaciduria	1962	EHHADH	ORPHA:3337
HP:0002909	Generalized aminoaciduria	2628	GATM	ORPHA:3337
HP:0002909	Generalized aminoaciduria	137682	NDUFAF6	ORPHA:3337
HP:0002909	Generalized aminoaciduria	1716	DGUOK	OMIM:251880
HP:0002912	Methylmalonic acidemia	4552	MTRR	OMIM:236270
HP:0002912	Methylmalonic acidemia	197322	ACSF3	ORPHA:289504
HP:0002912	Methylmalonic acidemia	8802	SUCLG1	ORPHA:17
HP:0002912	Methylmalonic acidemia	8803	SUCLA2	OMIM:612073
HP:0002912	Methylmalonic acidemia	55788	LMBRD1	OMIM:277380
HP:0002912	Methylmalonic acidemia	25974	MMACHC	ORPHA:79282
HP:0002912	Methylmalonic acidemia	25974	MMACHC	OMIM:277400
HP:0002912	Methylmalonic acidemia	3054	HCFC1	OMIM:309541
HP:0002912	Methylmalonic acidemia	4329	ALDH6A1	OMIM:614105
HP:0002912	Methylmalonic acidemia	51293	CD320	OMIM:613646
HP:0002912	Methylmalonic acidemia	5826	ABCD4	OMIM:614857
HP:0002912	Methylmalonic acidemia	4548	MTR	OMIM:250940
HP:0002912	Methylmalonic acidemia	27249	MMADHC	OMIM:277410
HP:0002912	Methylmalonic acidemia	326625	MMAB	OMIM:251110
HP:0002912	Methylmalonic acidemia	4594	MMUT	OMIM:251000
HP:0002912	Methylmalonic acidemia	5052	PRDX1	OMIM:277400
HP:0002912	Methylmalonic acidemia	166785	MMAA	OMIM:251100
HP:0002913	Myoglobinuria	3033	HADH	OMIM:231530
HP:0002913	Myoglobinuria	3033	HADH	ORPHA:71212
HP:0002913	Myoglobinuria	5257	PHKB	ORPHA:79240
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228302
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228305
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228308
HP:0002913	Myoglobinuria	1376	CPT2	OMIM:255110
HP:0002913	Myoglobinuria	779	CACNA1S	ORPHA:423
HP:0002913	Myoglobinuria	6261	RYR1	ORPHA:423
HP:0002913	Myoglobinuria	6261	RYR1	OMIM:145600
HP:0002913	Myoglobinuria	23479	ISCU	OMIM:255125
HP:0002913	Myoglobinuria	226	ALDOA	ORPHA:57
HP:0002913	Myoglobinuria	112812	FDX2	OMIM:251900
HP:0002913	Myoglobinuria	5224	PGAM2	OMIM:261670
HP:0002913	Myoglobinuria	5256	PHKA2	ORPHA:264580
HP:0002913	Myoglobinuria	5261	PHKG2	ORPHA:264580
HP:0002913	Myoglobinuria	128989	TANGO2	OMIM:616878
HP:0002913	Myoglobinuria	90523	MLIP	OMIM:620138
HP:0002913	Myoglobinuria	3939	LDHA	OMIM:612933
HP:0002913	Myoglobinuria	6443	SGCB	ORPHA:119
HP:0002913	Myoglobinuria	5230	PGK1	ORPHA:713
HP:0002913	Myoglobinuria	3030	HADHA	OMIM:609015
HP:0002913	Myoglobinuria	1756	DMD	ORPHA:98895
HP:0002913	Myoglobinuria	203859	ANO5	ORPHA:206549
HP:0002913	Myoglobinuria	27235	COQ2	OMIM:607426
HP:0002913	Myoglobinuria	23175	LPIN1	ORPHA:99845
HP:0002913	Myoglobinuria	4512	MT-CO1	ORPHA:99845
HP:0002913	Myoglobinuria	4514	MT-CO3	ORPHA:99845
HP:0002913	Myoglobinuria	5837	PYGM	ORPHA:368
HP:0002913	Myoglobinuria	5213	PFKM	OMIM:232800
HP:0002913	Myoglobinuria	37	ACADVL	OMIM:201475
HP:0002913	Myoglobinuria	729920	CRPPA	ORPHA:352479
HP:0002913	Myoglobinuria	5255	PHKA1	OMIM:300559
HP:0002913	Myoglobinuria	79147	FKRP	OMIM:607155
HP:0002914	Hyperchloriduria	6557	SLC12A1	OMIM:601678
HP:0002914	Hyperchloriduria	1187	CLCNKA	OMIM:613090
HP:0002914	Hyperchloriduria	1188	CLCNKB	OMIM:613090
HP:0002914	Hyperchloriduria	1188	CLCNKB	OMIM:607364
HP:0002914	Hyperchloriduria	7809	BSND	OMIM:602522
HP:0002914	Hyperchloriduria	3758	KCNJ1	OMIM:241200
HP:0003220	Abnormality of chromosome stability	472	ATM	ORPHA:100
HP:0003220	Abnormality of chromosome stability	26277	TINF2	OMIM:268130
HP:0003220	Abnormality of chromosome stability	6023	RMRP	ORPHA:175
HP:0003220	Abnormality of chromosome stability	2189	FANCG	OMIM:614082
HP:0003220	Abnormality of chromosome stability	2189	FANCG	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2187	FANCB	OMIM:300514
HP:0003220	Abnormality of chromosome stability	2187	FANCB	ORPHA:84
HP:0003220	Abnormality of chromosome stability	3070	HELLS	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	1789	DNMT3B	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	83879	CDCA7	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	9841	ZBTB24	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	641	BLM	OMIM:210900
HP:0003220	Abnormality of chromosome stability	7518	XRCC4	ORPHA:99812
HP:0003220	Abnormality of chromosome stability	3981	LIG4	ORPHA:99812
HP:0003220	Abnormality of chromosome stability	4683	NBN	ORPHA:647
HP:0003220	Abnormality of chromosome stability	6948	TCN2	ORPHA:859
HP:0003220	Abnormality of chromosome stability	672	BRCA1	ORPHA:84
HP:0003220	Abnormality of chromosome stability	10459	MAD2L2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	7516	XRCC2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	29089	UBE2T	ORPHA:84
HP:0003220	Abnormality of chromosome stability	675	BRCA2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55120	FANCL	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2177	FANCD2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2175	FANCA	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2176	FANCC	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2178	FANCE	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2188	FANCF	ORPHA:84
HP:0003220	Abnormality of chromosome stability	5888	RAD51	ORPHA:84
HP:0003220	Abnormality of chromosome stability	5889	RAD51C	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55159	RFWD3	ORPHA:84
HP:0003220	Abnormality of chromosome stability	83990	BRIP1	ORPHA:84
HP:0003220	Abnormality of chromosome stability	57697	FANCM	ORPHA:84
HP:0003220	Abnormality of chromosome stability	79728	PALB2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	84464	SLX4	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2072	ERCC4	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55215	FANCI	ORPHA:84
HP:0003220	Abnormality of chromosome stability	338657	CENATAC	OMIM:620153
HP:0003220	Abnormality of chromosome stability	1327	COX4I1	OMIM:619060
HP:0003220	Abnormality of chromosome stability	64858	DCLRE1B	OMIM:620133
HP:0003220	Abnormality of chromosome stability	2332	FMR1	ORPHA:908
HP:0003220	Abnormality of chromosome stability	2332	FMR1	OMIM:300624
HP:0003220	Abnormality of chromosome stability	84548	TMEM185A	ORPHA:100974
HP:0003220	Abnormality of chromosome stability	10111	RAD50	OMIM:613078
HP:0003220	Abnormality of chromosome stability	8314	BAP1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	4771	NF2	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6598	SMARCB1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	5155	PDGFB	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	84231	TRAF7	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6608	SMO	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	207	AKT1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	5290	PIK3CA	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	7015	TERT	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	51684	SUFU	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6605	SMARCE1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	165918	RNF168	ORPHA:420741
HP:0003220	Abnormality of chromosome stability	7156	TOP3A	OMIM:618097
HP:0003220	Abnormality of chromosome stability	134218	DNAJC21	OMIM:617052
HP:0003220	Abnormality of chromosome stability	4173	MCM4	OMIM:609981
HP:0002916	Abnormality of chromosome segregation	140732	SUN5	ORPHA:529970
HP:0002916	Abnormality of chromosome segregation	83449	PMFBP1	ORPHA:529970
HP:0002916	Abnormality of chromosome segregation	4204	MECP2	ORPHA:1762
HP:0002916	Abnormality of chromosome segregation	6469	SHH	OMIM:147250
HP:0002916	Abnormality of chromosome segregation	3930	LBR	OMIM:169400
HP:0002916	Abnormality of chromosome segregation	2697	GJA1	ORPHA:2248
HP:0002916	Abnormality of chromosome segregation	1482	NKX2-5	ORPHA:2248
HP:0002916	Abnormality of chromosome segregation	10743	RAI1	ORPHA:1713
HP:0002916	Abnormality of chromosome segregation	10483	SEC23B	OMIM:224100
HP:0002916	Abnormality of chromosome segregation	146059	CDAN1	OMIM:224120
HP:0002916	Abnormality of chromosome segregation	157570	ESCO2	OMIM:268300
HP:0002916	Abnormality of chromosome segregation	7248	TSC1	OMIM:191100
HP:0002916	Abnormality of chromosome segregation	701	BUB1B	OMIM:176430
HP:0002916	Abnormality of chromosome segregation	701	BUB1B	OMIM:257300
HP:0002916	Abnormality of chromosome segregation	9319	TRIP13	OMIM:617598
HP:0002917	Hypomagnesemia	140803	TRPM6	OMIM:602014
HP:0002917	Hypomagnesemia	83483	PLVAP	OMIM:618183
HP:0002917	Hypomagnesemia	1497	CTNS	OMIM:219800
HP:0002917	Hypomagnesemia	7809	BSND	ORPHA:89938
HP:0002917	Hypomagnesemia	1188	CLCNKB	ORPHA:89938
HP:0002917	Hypomagnesemia	1188	CLCNKB	ORPHA:358
HP:0002917	Hypomagnesemia	1187	CLCNKA	ORPHA:89938
HP:0002917	Hypomagnesemia	486	FXYD2	OMIM:154020
HP:0002917	Hypomagnesemia	6905	TBCE	OMIM:244460
HP:0002917	Hypomagnesemia	1621	DBH	OMIM:223360
HP:0002917	Hypomagnesemia	3766	KCNJ10	OMIM:612780
HP:0002917	Hypomagnesemia	3766	KCNJ10	ORPHA:199343
HP:0002917	Hypomagnesemia	476	ATP1A1	ORPHA:564178
HP:0002917	Hypomagnesemia	476	ATP1A1	OMIM:618314
HP:0002917	Hypomagnesemia	50943	FOXP3	ORPHA:37042
HP:0002917	Hypomagnesemia	2767	GNA11	ORPHA:428
HP:0002917	Hypomagnesemia	846	CASR	ORPHA:428
HP:0002917	Hypomagnesemia	846	CASR	OMIM:601198
HP:0002917	Hypomagnesemia	100134444	KCNJ18	ORPHA:79102
HP:0002917	Hypomagnesemia	2556	GABRA3	ORPHA:79102
HP:0002917	Hypomagnesemia	779	CACNA1S	ORPHA:79102
HP:0002917	Hypomagnesemia	1950	EGF	OMIM:611718
HP:0002917	Hypomagnesemia	9247	GCM2	ORPHA:2239
HP:0002917	Hypomagnesemia	6557	SLC12A1	OMIM:601678
HP:0002917	Hypomagnesemia	5442	POLRMT	OMIM:619743
HP:0002917	Hypomagnesemia	3758	KCNJ1	OMIM:241200
HP:0002917	Hypomagnesemia	54805	CNNM2	OMIM:613882
HP:0002917	Hypomagnesemia	54805	CNNM2	OMIM:616418
HP:0002917	Hypomagnesemia	149461	CLDN19	OMIM:248190
HP:0002917	Hypomagnesemia	10686	CLDN16	OMIM:248250
HP:0002917	Hypomagnesemia	6559	SLC12A3	OMIM:263800
HP:0002917	Hypomagnesemia	6559	SLC12A3	ORPHA:358
HP:0002917	Hypomagnesemia	2783	GNB2	OMIM:619503
HP:0002917	Hypomagnesemia	54938	SARS2	OMIM:613845
HP:0002917	Hypomagnesemia	7074	TIAM1	OMIM:619908
HP:0002917	Hypomagnesemia	5092	PCBD1	ORPHA:1578
HP:0002917	Hypomagnesemia	58528	RRAGD	OMIM:620152
HP:0002918	Hypermagnesemia	846	CASR	OMIM:145980
HP:0002918	Hypermagnesemia	2767	GNA11	OMIM:145981
HP:0002918	Hypermagnesemia	1175	AP2S1	OMIM:600740
HP:0002918	Hypermagnesemia	9071	CLDN10	OMIM:617671
HP:0002918	Hypermagnesemia	1188	CLCNKB	ORPHA:358
HP:0002918	Hypermagnesemia	6559	SLC12A3	ORPHA:358
HP:0002918	Hypermagnesemia	229	ALDOB	ORPHA:469
HP:0002919	Ketonuria	38	ACAT1	ORPHA:134
HP:0002919	Ketonuria	84987	COX14	OMIM:619053
HP:0002919	Ketonuria	10128	LRPPRC	OMIM:220111
HP:0002919	Ketonuria	3155	HMGCL	ORPHA:20
HP:0002919	Ketonuria	3155	HMGCL	OMIM:246450
HP:0002919	Ketonuria	51241	COX16	OMIM:619355
HP:0002919	Ketonuria	5105	PCK1	OMIM:261680
HP:0002919	Ketonuria	1537	CYC1	OMIM:615453
HP:0002919	Ketonuria	1374	CPT1A	OMIM:255120
HP:0002919	Ketonuria	25974	MMACHC	ORPHA:79282
HP:0002919	Ketonuria	5019	OXCT1	OMIM:245050
HP:0002919	Ketonuria	64087	MCCC2	OMIM:210210
HP:0002919	Ketonuria	84693	MCEE	OMIM:251120
HP:0002919	Ketonuria	128989	TANGO2	ORPHA:480864
HP:0002919	Ketonuria	128989	TANGO2	OMIM:616878
HP:0002919	Ketonuria	3767	KCNJ11	ORPHA:79644
HP:0002919	Ketonuria	3767	KCNJ11	ORPHA:99885
HP:0002919	Ketonuria	2639	GCDH	OMIM:231670
HP:0002919	Ketonuria	166785	MMAA	OMIM:251100
HP:0002919	Ketonuria	79783	SUGCT	ORPHA:35706
HP:0002919	Ketonuria	112812	FDX2	OMIM:251900
HP:0002919	Ketonuria	6514	SLC2A2	OMIM:227810
HP:0002919	Ketonuria	6566	SLC16A1	OMIM:616095
HP:0002919	Ketonuria	6392	SDHD	OMIM:619167
HP:0002919	Ketonuria	6833	ABCC8	OMIM:618857
HP:0002919	Ketonuria	6833	ABCC8	ORPHA:99885
HP:0002919	Ketonuria	2998	GYS2	ORPHA:2089
HP:0002919	Ketonuria	56922	MCCC1	OMIM:210200
HP:0002919	Ketonuria	10165	SLC25A13	ORPHA:247598
HP:0002919	Ketonuria	326625	MMAB	OMIM:251110
HP:0002919	Ketonuria	6774	STAT3	ORPHA:99885
HP:0002919	Ketonuria	2645	GCK	ORPHA:99885
HP:0002919	Ketonuria	3651	PDX1	ORPHA:99885
HP:0002919	Ketonuria	3630	INS	ORPHA:99885
HP:0002919	Ketonuria	763	CA5A	OMIM:615751
HP:0002919	Ketonuria	3954	LETM1	OMIM:620089
HP:0002920	Decreased circulating ACTH level	5626	PROP1	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	5626	PROP1	ORPHA:226307
HP:0002920	Decreased circulating ACTH level	5626	PROP1	ORPHA:90695
HP:0002920	Decreased circulating ACTH level	2736	GLI2	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	89884	LHX4	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	89884	LHX4	ORPHA:226307
HP:0002920	Decreased circulating ACTH level	3170	FOXA2	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	5449	POU1F1	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	5449	POU1F1	ORPHA:226307
HP:0002920	Decreased circulating ACTH level	8820	HESX1	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	8820	HESX1	ORPHA:226307
HP:0002920	Decreased circulating ACTH level	5015	OTX2	ORPHA:95494
HP:0002920	Decreased circulating ACTH level	5015	OTX2	OMIM:613986
HP:0002920	Decreased circulating ACTH level	4791	NFKB2	ORPHA:293978
HP:0002920	Decreased circulating ACTH level	64072	CDH23	ORPHA:91347
HP:0002920	Decreased circulating ACTH level	64072	CDH23	ORPHA:2965
HP:0002920	Decreased circulating ACTH level	8022	LHX3	ORPHA:226307
HP:0002920	Decreased circulating ACTH level	4221	MEN1	ORPHA:2965
HP:0002920	Decreased circulating ACTH level	9049	AIP	ORPHA:2965
HP:0002920	Decreased circulating ACTH level	79798	ARMC5	ORPHA:189427
HP:0002920	Decreased circulating ACTH level	79798	ARMC5	OMIM:615954
HP:0002920	Decreased circulating ACTH level	2778	GNAS	ORPHA:189427
HP:0002920	Decreased circulating ACTH level	2778	GNAS	OMIM:219080
HP:0002920	Decreased circulating ACTH level	5566	PRKACA	ORPHA:189439
HP:0002920	Decreased circulating ACTH level	8622	PDE8B	ORPHA:189439
HP:0002920	Decreased circulating ACTH level	5573	PRKAR1A	ORPHA:189439
HP:0002920	Decreased circulating ACTH level	5573	PRKAR1A	OMIM:610489
HP:0002920	Decreased circulating ACTH level	50940	PDE11A	ORPHA:189439
HP:0002920	Decreased circulating ACTH level	50940	PDE11A	OMIM:610475
HP:0002920	Decreased circulating ACTH level	8314	BAP1	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	4771	NF2	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	6598	SMARCB1	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	5155	PDGFB	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	84231	TRAF7	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	6608	SMO	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	207	AKT1	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	5290	PIK3CA	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	7015	TERT	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	51684	SUFU	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	6605	SMARCE1	ORPHA:2495
HP:0002920	Decreased circulating ACTH level	6658	SOX3	ORPHA:90695
HP:0002921	Abnormal cerebrospinal fluid morphology	1718	DHCR24	OMIM:602398
HP:0002921	Abnormal cerebrospinal fluid morphology	1718	DHCR24	ORPHA:35107
HP:0002921	Abnormal cerebrospinal fluid morphology	29899	GPSM2	OMIM:604213
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:272
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	OMIM:253800
HP:0002921	Abnormal cerebrospinal fluid morphology	4524	MTHFR	ORPHA:395
HP:0002921	Abnormal cerebrospinal fluid morphology	51256	TBC1D7	OMIM:248000
HP:0002921	Abnormal cerebrospinal fluid morphology	8294	H4C9	OMIM:619951
HP:0002921	Abnormal cerebrospinal fluid morphology	6873	TAF2	OMIM:615599
HP:0002921	Abnormal cerebrospinal fluid morphology	6873	TAF2	ORPHA:397951
HP:0002921	Abnormal cerebrospinal fluid morphology	4897	NRCAM	OMIM:619833
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:53271
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:1860
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:616482
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:15
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:93274
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:93262
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:100800
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:187600
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:612247
HP:0002921	Abnormal cerebrospinal fluid morphology	2737	GLI3	ORPHA:380
HP:0002921	Abnormal cerebrospinal fluid morphology	2737	GLI3	OMIM:175700
HP:0002921	Abnormal cerebrospinal fluid morphology	1630	DCC	OMIM:617542
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	4867	NPHP1	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	OMIM:614424
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	23426	GRIP1	OMIM:617667
HP:0002921	Abnormal cerebrospinal fluid morphology	2670	GFAP	OMIM:203450
HP:0002921	Abnormal cerebrospinal fluid morphology	2670	GFAP	ORPHA:363717
HP:0002921	Abnormal cerebrospinal fluid morphology	54806	AHI1	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	54806	AHI1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	153241	CEP120	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	153241	CEP120	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	OMIM:249000
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	95681	CEP41	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	95681	CEP41	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	5728	PTEN	ORPHA:2969
HP:0002921	Abnormal cerebrospinal fluid morphology	5728	PTEN	ORPHA:65285
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	OMIM:615249
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	55650	PIGV	OMIM:239300
HP:0002921	Abnormal cerebrospinal fluid morphology	65082	VPS33A	ORPHA:505248
HP:0002921	Abnormal cerebrospinal fluid morphology	284058	KANSL1	ORPHA:363958
HP:0002921	Abnormal cerebrospinal fluid morphology	284058	KANSL1	ORPHA:363965
HP:0002921	Abnormal cerebrospinal fluid morphology	4853	NOTCH2	OMIM:102500
HP:0002921	Abnormal cerebrospinal fluid morphology	4853	NOTCH2	ORPHA:955
HP:0002921	Abnormal cerebrospinal fluid morphology	9968	MED12	ORPHA:93932
HP:0002921	Abnormal cerebrospinal fluid morphology	9968	MED12	OMIM:305450
HP:0002921	Abnormal cerebrospinal fluid morphology	9326	ZNHIT3	ORPHA:2836
HP:0002921	Abnormal cerebrospinal fluid morphology	547	KIF1A	ORPHA:2836
HP:0002921	Abnormal cerebrospinal fluid morphology	3339	HSPG2	ORPHA:1865
HP:0002921	Abnormal cerebrospinal fluid morphology	9401	RECQL4	OMIM:218600
HP:0002921	Abnormal cerebrospinal fluid morphology	4763	NF1	ORPHA:363700
HP:0002921	Abnormal cerebrospinal fluid morphology	4763	NF1	OMIM:162200
HP:0002921	Abnormal cerebrospinal fluid morphology	5528	PPP2R5D	OMIM:616355
HP:0002921	Abnormal cerebrospinal fluid morphology	8036	SHOC2	ORPHA:2701
HP:0002921	Abnormal cerebrospinal fluid morphology	5500	PPP1CB	ORPHA:2701
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	OMIM:618709
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	OMIM:609637
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	OMIM:610829
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	OMIM:610828
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	OMIM:109400
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:77301
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	OMIM:101600
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	OMIM:613001
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	23007	PLCH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	23007	PLCH1	OMIM:619895
HP:0002921	Abnormal cerebrospinal fluid morphology	10735	STAG2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	10735	STAG2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	3039	HBA1	ORPHA:163596
HP:0002921	Abnormal cerebrospinal fluid morphology	3040	HBA2	ORPHA:163596
HP:0002921	Abnormal cerebrospinal fluid morphology	63901	FAM111A	OMIM:602361
HP:0002921	Abnormal cerebrospinal fluid morphology	2316	FLNA	ORPHA:90652
HP:0002921	Abnormal cerebrospinal fluid morphology	2316	FLNA	OMIM:304120
HP:0002921	Abnormal cerebrospinal fluid morphology	1499	CTNNB1	ORPHA:54595
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	ORPHA:54595
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	OMIM:115150
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	79600	TCTN1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79600	TCTN1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	79848	CSPP1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79848	CSPP1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	65250	CPLANE1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	OMIM:607361
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	200894	ARL13B	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9731	CEP104	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219844	HYLS1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219844	HYLS1	ORPHA:2189
HP:0002921	Abnormal cerebrospinal fluid morphology	23247	KATNIP	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219854	TMEM218	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9786	KIAA0586	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9786	KIAA0586	OMIM:616546
HP:0002921	Abnormal cerebrospinal fluid morphology	79867	TCTN2	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79867	TCTN2	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80776	B9D2	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	80776	B9D2	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	10464	PIBF1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	80210	ARMC9	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	23116	TOGARAM1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	25776	CBY1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	27077	B9D1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	27077	B9D1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	403	ARL3	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	3981	LIG4	ORPHA:235
HP:0002921	Abnormal cerebrospinal fluid morphology	54888	NSUN2	ORPHA:235
HP:0002921	Abnormal cerebrospinal fluid morphology	5518	PPP2R1A	OMIM:616362
HP:0002921	Abnormal cerebrospinal fluid morphology	5518	PPP2R1A	ORPHA:457284
HP:0002921	Abnormal cerebrospinal fluid morphology	7157	TP53	ORPHA:2807
HP:0002921	Abnormal cerebrospinal fluid morphology	7157	TP53	OMIM:260500
HP:0002921	Abnormal cerebrospinal fluid morphology	5034	P4HB	OMIM:112240
HP:0002921	Abnormal cerebrospinal fluid morphology	55621	TRMT1	OMIM:618302
HP:0002921	Abnormal cerebrospinal fluid morphology	1182	CLCN3	OMIM:619512
HP:0002921	Abnormal cerebrospinal fluid morphology	1349	COX7B	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	1349	COX7B	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	3052	HCCS	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	3052	HCCS	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	54539	NDUFB11	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	54539	NDUFB11	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	55699	IARS2	OMIM:616007
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	OMIM:615181
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	29925	GMPPB	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	29925	GMPPB	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	OMIM:613153
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	OMIM:613154
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	OMIM:613150
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	OMIM:253280
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	OMIM:613155
HP:0002921	Abnormal cerebrospinal fluid morphology	285362	SUMF1	OMIM:272200
HP:0002921	Abnormal cerebrospinal fluid morphology	285362	SUMF1	ORPHA:585
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	OMIM:314390
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	OMIM:300514
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	ORPHA:3412
HP:0002921	Abnormal cerebrospinal fluid morphology	7547	ZIC3	OMIM:314390
HP:0002921	Abnormal cerebrospinal fluid morphology	7547	ZIC3	OMIM:306955
HP:0002921	Abnormal cerebrospinal fluid morphology	30813	VSX1	OMIM:614195
HP:0002921	Abnormal cerebrospinal fluid morphology	11041	B4GAT1	OMIM:615287
HP:0002921	Abnormal cerebrospinal fluid morphology	11041	B4GAT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:123790
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:101200
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:123500
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:207
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:101600
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:87
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:93259
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:207410
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:1555
HP:0002921	Abnormal cerebrospinal fluid morphology	2683	B4GALT1	ORPHA:79332
HP:0002921	Abnormal cerebrospinal fluid morphology	2683	B4GALT1	OMIM:607091
HP:0002921	Abnormal cerebrospinal fluid morphology	8643	PTCH2	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	54941	RNF125	OMIM:616260
HP:0002921	Abnormal cerebrospinal fluid morphology	55120	FANCL	OMIM:614083
HP:0002921	Abnormal cerebrospinal fluid morphology	55120	FANCL	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	79989	IFT56	OMIM:619534
HP:0002921	Abnormal cerebrospinal fluid morphology	3423	IDS	OMIM:309900
HP:0002921	Abnormal cerebrospinal fluid morphology	284111	SLC13A5	ORPHA:1946
HP:0002921	Abnormal cerebrospinal fluid morphology	79641	ROGDI	ORPHA:1946
HP:0002921	Abnormal cerebrospinal fluid morphology	286204	CRB2	OMIM:219730
HP:0002921	Abnormal cerebrospinal fluid morphology	25981	DNAH1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	115948	ODAD3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54768	HYDIN	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	352909	DNAAF3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	27148	STK36	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	51314	NME8	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	92749	DRC1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54970	TTC12	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	152110	NEK10	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8481	OFD1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8481	OFD1	OMIM:311200
HP:0002921	Abnormal cerebrospinal fluid morphology	2302	FOXJ1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	221421	RSPH9	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	85478	CCDC65	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55036	CCDC40	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	51364	ZMYND10	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	64446	DNAI2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	6674	SPAG1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83544	DNAL1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	89765	RSPH1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83538	ODAD4	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	200373	CFAP221	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	374407	DNAJB13	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55172	DNAAF2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	161582	DNAAF4	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	2622	GAS8	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	23639	DNAAF11	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	27019	DNAI1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	345895	RSPH4A	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54919	DNAAF5	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	6103	RPGR	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	388389	CCDC103	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	93233	ODAD1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55130	ODAD2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	1767	DNAH5	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83861	RSPH3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	345643	MCIDAS	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	56683	CFAP298	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	79925	SPEF2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	10309	CCNO	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	115399	LRRC56	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	139212	DNAAF6	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	123872	DNAAF1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	85016	CFAP300	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	339829	CCDC39	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8701	DNAH11	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	1770	DNAH9	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	246176	GAS2L2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	81839	VANGL1	OMIM:600145
HP:0002921	Abnormal cerebrospinal fluid morphology	81839	VANGL1	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:304100
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:307000
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	ORPHA:2182
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:303350
HP:0002921	Abnormal cerebrospinal fluid morphology	51645	PPIL1	OMIM:619301
HP:0002921	Abnormal cerebrospinal fluid morphology	51362	CDC40	OMIM:619302
HP:0002921	Abnormal cerebrospinal fluid morphology	5881	RAC3	OMIM:618577
HP:0002921	Abnormal cerebrospinal fluid morphology	5888	RAD51	OMIM:617244
HP:0002921	Abnormal cerebrospinal fluid morphology	5888	RAD51	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	7046	TGFBR1	OMIM:609192
HP:0002921	Abnormal cerebrospinal fluid morphology	8905	AP1S2	OMIM:304340
HP:0002921	Abnormal cerebrospinal fluid morphology	8905	AP1S2	ORPHA:85335
HP:0002921	Abnormal cerebrospinal fluid morphology	1801	DPH1	ORPHA:459061
HP:0002921	Abnormal cerebrospinal fluid morphology	3912	LAMB1	OMIM:615191
HP:0002921	Abnormal cerebrospinal fluid morphology	3912	LAMB1	ORPHA:352682
HP:0002921	Abnormal cerebrospinal fluid morphology	51422	PRKAG2	OMIM:261740
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	OMIM:608091
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	57216	VANGL2	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	6347	CCL2	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	6862	TBXT	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	80199	FUZ	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	80199	FUZ	ORPHA:1136
HP:0002921	Abnormal cerebrospinal fluid morphology	10312	TCIRG1	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	10312	TCIRG1	OMIM:259700
HP:0002921	Abnormal cerebrospinal fluid morphology	1186	CLCN7	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	1186	CLCN7	ORPHA:53
HP:0002921	Abnormal cerebrospinal fluid morphology	29887	SNX10	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	8600	TNFSF11	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	8600	TNFSF11	OMIM:259710
HP:0002921	Abnormal cerebrospinal fluid morphology	128869	PIGU	OMIM:618590
HP:0002921	Abnormal cerebrospinal fluid morphology	4967	OGDH	ORPHA:31
HP:0002921	Abnormal cerebrospinal fluid morphology	6299	SALL1	OMIM:107480
HP:0002921	Abnormal cerebrospinal fluid morphology	1193	CLIC2	OMIM:300886
HP:0002921	Abnormal cerebrospinal fluid morphology	1436	CSF1R	OMIM:618476
HP:0002921	Abnormal cerebrospinal fluid morphology	9871	SEC24D	OMIM:616294
HP:0002921	Abnormal cerebrospinal fluid morphology	79868	ALG13	OMIM:300884
HP:0002921	Abnormal cerebrospinal fluid morphology	8882	ZPR1	OMIM:619321
HP:0002921	Abnormal cerebrospinal fluid morphology	7248	TSC1	ORPHA:538
HP:0002921	Abnormal cerebrospinal fluid morphology	7249	TSC2	ORPHA:538
HP:0002921	Abnormal cerebrospinal fluid morphology	84892	POMGNT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	84892	POMGNT2	OMIM:614830
HP:0002921	Abnormal cerebrospinal fluid morphology	1282	COL4A1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1282	COL4A1	OMIM:175780
HP:0002921	Abnormal cerebrospinal fluid morphology	729920	CRPPA	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	729920	CRPPA	OMIM:614643
HP:0002921	Abnormal cerebrospinal fluid morphology	10329	RXYLT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1605	DAG1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1605	DAG1	OMIM:616538
HP:0002921	Abnormal cerebrospinal fluid morphology	79068	FTO	OMIM:612938
HP:0002921	Abnormal cerebrospinal fluid morphology	56975	FAM20C	OMIM:259775
HP:0002921	Abnormal cerebrospinal fluid morphology	4784	NFIX	OMIM:602535
HP:0002921	Abnormal cerebrospinal fluid morphology	57551	TAOK1	OMIM:619575
HP:0002921	Abnormal cerebrospinal fluid morphology	340665	CYP26C1	ORPHA:398189
HP:0002921	Abnormal cerebrospinal fluid morphology	5831	PYCR1	OMIM:612940
HP:0002921	Abnormal cerebrospinal fluid morphology	2077	ERF	ORPHA:207
HP:0002921	Abnormal cerebrospinal fluid morphology	1312	COMT	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	221037	JMJD1C	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	2812	GP1BB	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	6239	RREB1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	6899	TBX1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	7290	HIRA	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	9632	SEC24C	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	7353	UFD1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	421	ARVCF	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	84314	TMEM107	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	26123	TCTN3	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	57096	RPGRIP1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	OMIM:611134
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	OMIM:619111
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	OMIM:612284
HP:0002921	Abnormal cerebrospinal fluid morphology	79583	TMEM231	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	79583	TMEM231	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	79770	TXNDC15	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	23258	DENND5A	OMIM:617281
HP:0002921	Abnormal cerebrospinal fluid morphology	10013	HDAC6	OMIM:300863
HP:0002921	Abnormal cerebrospinal fluid morphology	10013	HDAC6	ORPHA:163966
HP:0002921	Abnormal cerebrospinal fluid morphology	2009	EML1	OMIM:600348
HP:0002921	Abnormal cerebrospinal fluid morphology	5573	PRKAR1A	OMIM:101800
HP:0002921	Abnormal cerebrospinal fluid morphology	84065	TMEM222	OMIM:619470
HP:0002921	Abnormal cerebrospinal fluid morphology	54809	SAMD9	OMIM:617053
HP:0002921	Abnormal cerebrospinal fluid morphology	145173	B3GLCT	OMIM:261540
HP:0002921	Abnormal cerebrospinal fluid morphology	145173	B3GLCT	ORPHA:709
HP:0002921	Abnormal cerebrospinal fluid morphology	6711	SPTBN1	OMIM:619475
HP:0002921	Abnormal cerebrospinal fluid morphology	6608	SMO	OMIM:241800
HP:0002921	Abnormal cerebrospinal fluid morphology	6608	SMO	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	4157	MC1R	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	4893	NRAS	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	4893	NRAS	OMIM:249400
HP:0002921	Abnormal cerebrospinal fluid morphology	4534	MTM1	OMIM:310400
HP:0002921	Abnormal cerebrospinal fluid morphology	10682	EBP	OMIM:300960
HP:0002921	Abnormal cerebrospinal fluid morphology	10682	EBP	ORPHA:401973
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	OMIM:602501
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	ORPHA:60040
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	55640	FLVCR2	OMIM:225790
HP:0002921	Abnormal cerebrospinal fluid morphology	3516	RBPJ	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	4851	NOTCH1	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57514	ARHGAP31	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57572	DOCK6	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57572	DOCK6	OMIM:614219
HP:0002921	Abnormal cerebrospinal fluid morphology	285203	EOGT	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	54567	DLL4	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	23387	SIK3	OMIM:618162
HP:0002921	Abnormal cerebrospinal fluid morphology	2177	FANCD2	OMIM:227646
HP:0002921	Abnormal cerebrospinal fluid morphology	2177	FANCD2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	26137	ZBTB20	ORPHA:3042
HP:0002921	Abnormal cerebrospinal fluid morphology	55898	UNC45A	OMIM:619377
HP:0002921	Abnormal cerebrospinal fluid morphology	2629	GBA1	ORPHA:2072
HP:0002921	Abnormal cerebrospinal fluid morphology	2629	GBA1	OMIM:231005
HP:0002921	Abnormal cerebrospinal fluid morphology	51360	MBTPS2	ORPHA:85284
HP:0002921	Abnormal cerebrospinal fluid morphology	1376	CPT2	ORPHA:228308
HP:0002921	Abnormal cerebrospinal fluid morphology	9897	WASHC5	ORPHA:7
HP:0002921	Abnormal cerebrospinal fluid morphology	9897	WASHC5	OMIM:220210
HP:0002921	Abnormal cerebrospinal fluid morphology	28952	CCDC22	ORPHA:7
HP:0002921	Abnormal cerebrospinal fluid morphology	6913	TBX15	OMIM:260660
HP:0002921	Abnormal cerebrospinal fluid morphology	1496	CTNNA2	OMIM:618174
HP:0002921	Abnormal cerebrospinal fluid morphology	55315	SLC29A3	ORPHA:168569
HP:0002921	Abnormal cerebrospinal fluid morphology	374654	KIF7	ORPHA:2189
HP:0002921	Abnormal cerebrospinal fluid morphology	374654	KIF7	OMIM:614120
HP:0002921	Abnormal cerebrospinal fluid morphology	10535	RNASEH2A	OMIM:610333
HP:0002921	Abnormal cerebrospinal fluid morphology	4771	NF2	ORPHA:637
HP:0002921	Abnormal cerebrospinal fluid morphology	4771	NF2	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	8085	KMT2D	OMIM:147920
HP:0002921	Abnormal cerebrospinal fluid morphology	8085	KMT2D	ORPHA:2322
HP:0002921	Abnormal cerebrospinal fluid morphology	7403	KDM6A	OMIM:147920
HP:0002921	Abnormal cerebrospinal fluid morphology	7403	KDM6A	ORPHA:2322
HP:0002921	Abnormal cerebrospinal fluid morphology	10262	SF3B4	OMIM:154400
HP:0002921	Abnormal cerebrospinal fluid morphology	894	CCND2	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	894	CCND2	OMIM:615938
HP:0002921	Abnormal cerebrospinal fluid morphology	5296	PIK3R2	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	5296	PIK3R2	OMIM:603387
HP:0002921	Abnormal cerebrospinal fluid morphology	10000	AKT3	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	10000	AKT3	OMIM:615937
HP:0002921	Abnormal cerebrospinal fluid morphology	10992	SF3B2	OMIM:164210
HP:0002921	Abnormal cerebrospinal fluid morphology	80144	FRAS1	OMIM:219000
HP:0002921	Abnormal cerebrospinal fluid morphology	5447	POR	ORPHA:95699
HP:0002921	Abnormal cerebrospinal fluid morphology	5447	POR	OMIM:207410
HP:0002921	Abnormal cerebrospinal fluid morphology	501	ALDH7A1	OMIM:266100
HP:0002921	Abnormal cerebrospinal fluid morphology	4552	MTRR	ORPHA:2169
HP:0002921	Abnormal cerebrospinal fluid morphology	22858	CILK1	OMIM:612651
HP:0002921	Abnormal cerebrospinal fluid morphology	6662	SOX9	OMIM:114290
HP:0002921	Abnormal cerebrospinal fluid morphology	29072	SETD2	OMIM:620157
HP:0002921	Abnormal cerebrospinal fluid morphology	29072	SETD2	OMIM:620155
HP:0002921	Abnormal cerebrospinal fluid morphology	26153	KIF26A	OMIM:620156
HP:0002921	Abnormal cerebrospinal fluid morphology	8792	TNFRSF11A	OMIM:612301
HP:0002921	Abnormal cerebrospinal fluid morphology	114034	TOE1	OMIM:614969
HP:0002921	Abnormal cerebrospinal fluid morphology	672	BRCA1	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	10459	MAD2L2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	7516	XRCC2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	29089	UBE2T	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	675	BRCA2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2175	FANCA	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2176	FANCC	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2178	FANCE	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2188	FANCF	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2189	FANCG	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	5889	RAD51C	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	55159	RFWD3	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	83990	BRIP1	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	57697	FANCM	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	79728	PALB2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	84464	SLX4	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2072	ERCC4	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2072	ERCC4	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	55215	FANCI	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	5340	PLG	ORPHA:722
HP:0002921	Abnormal cerebrospinal fluid morphology	5340	PLG	OMIM:217090
HP:0002921	Abnormal cerebrospinal fluid morphology	1717	DHCR7	OMIM:270400
HP:0002921	Abnormal cerebrospinal fluid morphology	9896	FIG4	ORPHA:3472
HP:0002921	Abnormal cerebrospinal fluid morphology	55697	VAC14	ORPHA:3472
HP:0002921	Abnormal cerebrospinal fluid morphology	3425	IDUA	OMIM:607014
HP:0002921	Abnormal cerebrospinal fluid morphology	3425	IDUA	ORPHA:93473
HP:0002921	Abnormal cerebrospinal fluid morphology	53834	FGFRL1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	1487	CTBP1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	3954	LETM1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	7468	NSD2	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	10815	CPLX1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	3265	HRAS	OMIM:218040
HP:0002921	Abnormal cerebrospinal fluid morphology	2200	FBN1	OMIM:616914
HP:0002921	Abnormal cerebrospinal fluid morphology	3192	HNRNPU	ORPHA:238769
HP:0002921	Abnormal cerebrospinal fluid morphology	4593	MUSK	OMIM:208150
HP:0002921	Abnormal cerebrospinal fluid morphology	5063	PAK3	OMIM:300558
HP:0002921	Abnormal cerebrospinal fluid morphology	64327	LMBR1	ORPHA:2378
HP:0002921	Abnormal cerebrospinal fluid morphology	4519	MT-CYB	ORPHA:137675
HP:0002921	Abnormal cerebrospinal fluid morphology	8314	BAP1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6598	SMARCB1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6598	SMARCB1	ORPHA:99966
HP:0002921	Abnormal cerebrospinal fluid morphology	5155	PDGFB	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	84231	TRAF7	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	207	AKT1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	7015	TERT	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6605	SMARCE1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	11128	POLR3A	OMIM:264090
HP:0002921	Abnormal cerebrospinal fluid morphology	11128	POLR3A	ORPHA:3455
HP:0002921	Abnormal cerebrospinal fluid morphology	4094	MAF	ORPHA:1272
HP:0002921	Abnormal cerebrospinal fluid morphology	2050	EPHB4	ORPHA:137667
HP:0002921	Abnormal cerebrospinal fluid morphology	5921	RASA1	ORPHA:137667
HP:0002921	Abnormal cerebrospinal fluid morphology	3662	IRF4	ORPHA:3452
HP:0002921	Abnormal cerebrospinal fluid morphology	440193	CCDC88C	OMIM:236600
HP:0002921	Abnormal cerebrospinal fluid morphology	7048	TGFBR2	OMIM:610168
HP:0002921	Abnormal cerebrospinal fluid morphology	5824	PEX19	OMIM:614886
HP:0002921	Abnormal cerebrospinal fluid morphology	701	BUB1B	OMIM:257300
HP:0002921	Abnormal cerebrospinal fluid morphology	2776	GNAQ	ORPHA:3205
HP:0002921	Abnormal cerebrospinal fluid morphology	28962	OSTM1	OMIM:259720
HP:0002921	Abnormal cerebrospinal fluid morphology	157570	ESCO2	OMIM:268300
HP:0002921	Abnormal cerebrospinal fluid morphology	2581	GALC	OMIM:245200
HP:0002921	Abnormal cerebrospinal fluid morphology	84667	HES7	OMIM:613686
HP:0002921	Abnormal cerebrospinal fluid morphology	51134	CEP83	OMIM:615862
HP:0002921	Abnormal cerebrospinal fluid morphology	2719	GPC3	OMIM:312870
HP:0002921	Abnormal cerebrospinal fluid morphology	2239	GPC4	OMIM:312870
HP:0002921	Abnormal cerebrospinal fluid morphology	63895	PIEZO2	ORPHA:2461
HP:0002921	Abnormal cerebrospinal fluid morphology	9927	MFN2	ORPHA:99947
HP:0002921	Abnormal cerebrospinal fluid morphology	579	NKX3-2	OMIM:613330
HP:0002921	Abnormal cerebrospinal fluid morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002921	Abnormal cerebrospinal fluid morphology	26160	IFT172	OMIM:615630
HP:0002921	Abnormal cerebrospinal fluid morphology	7473	WNT3	ORPHA:3301
HP:0002921	Abnormal cerebrospinal fluid morphology	7473	WNT3	OMIM:273395
HP:0002921	Abnormal cerebrospinal fluid morphology	340419	RSPO2	ORPHA:3301
HP:0002921	Abnormal cerebrospinal fluid morphology	411	ARSB	OMIM:253200
HP:0002921	Abnormal cerebrospinal fluid morphology	4854	NOTCH3	OMIM:130720
HP:0002921	Abnormal cerebrospinal fluid morphology	84162	BLTP1	OMIM:617822
HP:0002921	Abnormal cerebrospinal fluid morphology	6657	SOX2	ORPHA:77298
HP:0002921	Abnormal cerebrospinal fluid morphology	5604	MAP2K1	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	5605	MAP2K2	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	3845	KRAS	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	1063	CENPF	OMIM:243605
HP:0002921	Abnormal cerebrospinal fluid morphology	51524	TMEM138	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	23090	ZNF423	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	64093	SMOC1	ORPHA:1106
HP:0002921	Abnormal cerebrospinal fluid morphology	57511	COG6	OMIM:614576
HP:0002921	Abnormal cerebrospinal fluid morphology	124997	WDR81	OMIM:617967
HP:0002921	Abnormal cerebrospinal fluid morphology	80781	COL18A1	ORPHA:1571
HP:0002921	Abnormal cerebrospinal fluid morphology	5062	PAK2	ORPHA:1571
HP:0002921	Abnormal cerebrospinal fluid morphology	4758	NEU1	ORPHA:93400
HP:0002921	Abnormal cerebrospinal fluid morphology	64840	PORCN	OMIM:305600
HP:0002921	Abnormal cerebrospinal fluid morphology	7874	USP7	ORPHA:500055
HP:0002921	Abnormal cerebrospinal fluid morphology	9791	PTDSS1	ORPHA:2658
HP:0002921	Abnormal cerebrospinal fluid morphology	29957	SLC25A24	OMIM:612289
HP:0002921	Abnormal cerebrospinal fluid morphology	23040	MYT1L	OMIM:616521
HP:0002921	Abnormal cerebrospinal fluid morphology	7305	TYROBP	ORPHA:2770
HP:0002921	Abnormal cerebrospinal fluid morphology	54209	TREM2	ORPHA:2770
HP:0002921	Abnormal cerebrospinal fluid morphology	112752	IFT43	OMIM:617866
HP:0002921	Abnormal cerebrospinal fluid morphology	2068	ERCC2	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	2073	ERCC5	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	2071	ERCC3	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	139285	AMER1	OMIM:300373
HP:0002921	Abnormal cerebrospinal fluid morphology	6497	SKI	OMIM:182212
HP:0002921	Abnormal cerebrospinal fluid morphology	126792	B3GALT6	ORPHA:536467
HP:0002921	Abnormal cerebrospinal fluid morphology	26503	SLC17A5	OMIM:269920
HP:0002921	Abnormal cerebrospinal fluid morphology	2990	GUSB	OMIM:253220
HP:0002921	Abnormal cerebrospinal fluid morphology	59341	TRPV4	ORPHA:2635
HP:0002921	Abnormal cerebrospinal fluid morphology	8243	SMC1A	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	8777	MPDZ	OMIM:615219
HP:0002921	Abnormal cerebrospinal fluid morphology	25974	MMACHC	ORPHA:79282
HP:0002921	Abnormal cerebrospinal fluid morphology	25974	MMACHC	OMIM:277400
HP:0002921	Abnormal cerebrospinal fluid morphology	2639	GCDH	OMIM:231670
HP:0002921	Abnormal cerebrospinal fluid morphology	9469	CHST3	OMIM:245600
HP:0002921	Abnormal cerebrospinal fluid morphology	26229	B3GAT3	OMIM:245600
HP:0002921	Abnormal cerebrospinal fluid morphology	5052	PRDX1	OMIM:277400
HP:0002921	Abnormal cerebrospinal fluid morphology	8925	HERC1	ORPHA:457359
HP:0002921	Abnormal cerebrospinal fluid morphology	8925	HERC1	OMIM:617011
HP:0002921	Abnormal cerebrospinal fluid morphology	51095	TRNT1	OMIM:616084
HP:0002921	Abnormal cerebrospinal fluid morphology	55503	TRPV6	OMIM:618188
HP:0002921	Abnormal cerebrospinal fluid morphology	131405	TRIM71	OMIM:618667
HP:0002921	Abnormal cerebrospinal fluid morphology	6513	SLC2A1	ORPHA:168577
HP:0002921	Abnormal cerebrospinal fluid morphology	4125	MAN2B1	ORPHA:309282
HP:0002921	Abnormal cerebrospinal fluid morphology	9578	CDC42BPB	OMIM:619841
HP:0002921	Abnormal cerebrospinal fluid morphology	3070	HELLS	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	1789	DNMT3B	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	83879	CDCA7	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	9841	ZBTB24	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	2074	ERCC6	OMIM:133540
HP:0002921	Abnormal cerebrospinal fluid morphology	10381	TUBB3	ORPHA:300570
HP:0002921	Abnormal cerebrospinal fluid morphology	80217	CFAP43	OMIM:236690
HP:0002921	Abnormal cerebrospinal fluid morphology	1161	ERCC8	OMIM:216400
HP:0002921	Abnormal cerebrospinal fluid morphology	9131	AIFM1	ORPHA:238329
HP:0002921	Abnormal cerebrospinal fluid morphology	9131	AIFM1	OMIM:300816
HP:0002921	Abnormal cerebrospinal fluid morphology	4702	NDUFA8	OMIM:619272
HP:0002921	Abnormal cerebrospinal fluid morphology	10128	LRPPRC	OMIM:220111
HP:0002921	Abnormal cerebrospinal fluid morphology	10128	LRPPRC	ORPHA:70472
HP:0002921	Abnormal cerebrospinal fluid morphology	4558	MT-TF	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4572	MT-TQ	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4512	MT-CO1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4513	MT-CO2	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4514	MT-CO3	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4578	MT-TW	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4578	MT-TW	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4540	MT-ND5	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4540	MT-ND5	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4541	MT-ND6	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4541	MT-ND6	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4535	MT-ND1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4535	MT-ND1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4535	MT-ND1	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4538	MT-ND4	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4538	MT-ND4	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4567	MT-TL1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4567	MT-TL1	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4574	MT-TS1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4574	MT-TS1	OMIM:220110
HP:0002921	Abnormal cerebrospinal fluid morphology	4575	MT-TS2	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4564	MT-TH	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	51103	NDUFAF1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	91942	NDUFAF2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	91942	NDUFAF2	OMIM:618233
HP:0002921	Abnormal cerebrospinal fluid morphology	91942	NDUFAF2	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	51300	TIMMDC1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4716	NDUFB10	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4723	NDUFV1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4723	NDUFV1	OMIM:618225
HP:0002921	Abnormal cerebrospinal fluid morphology	4723	NDUFV1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	55572	FOXRED1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	55572	FOXRED1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	284184	NDUFAF8	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	55863	TMEM126B	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4537	MT-ND3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4537	MT-ND3	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4729	NDUFV2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4729	NDUFV2	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4694	NDUFA1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4724	NDUFS4	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4724	NDUFS4	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4724	NDUFS4	OMIM:252010
HP:0002921	Abnormal cerebrospinal fluid morphology	4726	NDUFS6	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4728	NDUFS8	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4728	NDUFS8	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4722	NDUFS3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4722	NDUFS3	OMIM:618230
HP:0002921	Abnormal cerebrospinal fluid morphology	4722	NDUFS3	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	79133	NDUFAF5	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	79133	NDUFAF5	OMIM:618238
HP:0002921	Abnormal cerebrospinal fluid morphology	79133	NDUFAF5	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	126328	NDUFA11	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4709	NDUFB3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	80224	NUBPL	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	80224	NUBPL	OMIM:618242
HP:0002921	Abnormal cerebrospinal fluid morphology	29078	NDUFAF4	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	374291	NDUFS7	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	374291	NDUFS7	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4700	NDUFA6	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4700	NDUFA6	OMIM:618253
HP:0002921	Abnormal cerebrospinal fluid morphology	4536	MT-ND2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4536	MT-ND2	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4719	NDUFS1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4719	NDUFS1	OMIM:618226
HP:0002921	Abnormal cerebrospinal fluid morphology	4719	NDUFS1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4715	NDUFB9	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	57128	LYRM4	OMIM:615595
HP:0002921	Abnormal cerebrospinal fluid morphology	4570	MT-TN	OMIM:220110
HP:0002921	Abnormal cerebrospinal fluid morphology	92609	TIMM50	OMIM:617698
HP:0002921	Abnormal cerebrospinal fluid morphology	10059	DNM1L	OMIM:614388
HP:0002921	Abnormal cerebrospinal fluid morphology	85476	GFM1	OMIM:609060
HP:0002921	Abnormal cerebrospinal fluid morphology	4191	MDH2	OMIM:617339
HP:0002921	Abnormal cerebrospinal fluid morphology	84334	COA8	ORPHA:436271
HP:0002921	Abnormal cerebrospinal fluid morphology	90624	LYRM7	OMIM:615838
HP:0002921	Abnormal cerebrospinal fluid morphology	123263	MTFMT	OMIM:614947
HP:0002921	Abnormal cerebrospinal fluid morphology	123263	MTFMT	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	8659	ALDH4A1	ORPHA:79101
HP:0002921	Abnormal cerebrospinal fluid morphology	10667	FARS2	OMIM:614946
HP:0002921	Abnormal cerebrospinal fluid morphology	8050	PDHX	ORPHA:255182
HP:0002921	Abnormal cerebrospinal fluid morphology	4577	MT-TV	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4508	MT-ATP6	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4566	MT-TK	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	51112	TRAPPC12	ORPHA:500144
HP:0002921	Abnormal cerebrospinal fluid morphology	128240	NAXE	OMIM:617186
HP:0002921	Abnormal cerebrospinal fluid morphology	291	SLC25A4	OMIM:617184
HP:0002921	Abnormal cerebrospinal fluid morphology	291	SLC25A4	OMIM:615418
HP:0002921	Abnormal cerebrospinal fluid morphology	65993	MRPS34	OMIM:617664
HP:0002921	Abnormal cerebrospinal fluid morphology	25828	TXN2	ORPHA:478029
HP:0002921	Abnormal cerebrospinal fluid morphology	25828	TXN2	OMIM:616811
HP:0002921	Abnormal cerebrospinal fluid morphology	5160	PDHA1	OMIM:312170
HP:0002921	Abnormal cerebrospinal fluid morphology	5160	PDHA1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	5160	PDHA1	ORPHA:79243
HP:0002921	Abnormal cerebrospinal fluid morphology	56997	COQ8A	ORPHA:139485
HP:0002921	Abnormal cerebrospinal fluid morphology	56997	COQ8A	OMIM:612016
HP:0002921	Abnormal cerebrospinal fluid morphology	1352	COX10	OMIM:619046
HP:0002921	Abnormal cerebrospinal fluid morphology	84340	GFM2	OMIM:618397
HP:0002921	Abnormal cerebrospinal fluid morphology	84340	GFM2	ORPHA:565624
HP:0002921	Abnormal cerebrospinal fluid morphology	54931	TRMT10C	OMIM:616974
HP:0002921	Abnormal cerebrospinal fluid morphology	539	ATP5PO	OMIM:620359
HP:0002921	Abnormal cerebrospinal fluid morphology	57038	RARS2	OMIM:611523
HP:0002921	Abnormal cerebrospinal fluid morphology	4204	MECP2	ORPHA:778
HP:0002921	Abnormal cerebrospinal fluid morphology	87178	PNPT1	ORPHA:319514
HP:0002921	Abnormal cerebrospinal fluid morphology	87178	PNPT1	OMIM:614932
HP:0002921	Abnormal cerebrospinal fluid morphology	1340	COX6B1	OMIM:619051
HP:0002921	Abnormal cerebrospinal fluid morphology	6389	SDHA	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	80704	SLC19A3	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	55967	NDUFA12	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	55967	NDUFA12	OMIM:618244
HP:0002921	Abnormal cerebrospinal fluid morphology	51204	TACO1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	137682	NDUFAF6	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	100131801	PET100	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	100131801	PET100	OMIM:619055
HP:0002921	Abnormal cerebrospinal fluid morphology	1355	COX15	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	1892	ECHS1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	1892	ECHS1	OMIM:616277
HP:0002921	Abnormal cerebrospinal fluid morphology	51079	NDUFA13	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4705	NDUFA10	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4705	NDUFA10	OMIM:618243
HP:0002921	Abnormal cerebrospinal fluid morphology	51601	LIPT1	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4695	NDUFA2	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4697	NDUFA4	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	4697	NDUFA4	OMIM:619065
HP:0002921	Abnormal cerebrospinal fluid morphology	4704	NDUFA9	ORPHA:255241
HP:0002921	Abnormal cerebrospinal fluid morphology	84987	COX14	OMIM:619053
HP:0002921	Abnormal cerebrospinal fluid morphology	1351	COX8A	OMIM:619059
HP:0002921	Abnormal cerebrospinal fluid morphology	4358	MPV17	OMIM:618400
HP:0002921	Abnormal cerebrospinal fluid morphology	116228	COX20	OMIM:619054
HP:0002921	Abnormal cerebrospinal fluid morphology	200205	IBA57	OMIM:615330
HP:0002921	Abnormal cerebrospinal fluid morphology	60386	SLC25A19	OMIM:613710
HP:0002921	Abnormal cerebrospinal fluid morphology	55157	DARS2	ORPHA:137898
HP:0002921	Abnormal cerebrospinal fluid morphology	55005	RMND1	OMIM:614922
HP:0002921	Abnormal cerebrospinal fluid morphology	64116	SLC39A8	ORPHA:468699
HP:0002921	Abnormal cerebrospinal fluid morphology	9361	LONP1	ORPHA:79243
HP:0002921	Abnormal cerebrospinal fluid morphology	91647	ATPAF2	OMIM:604273
HP:0002921	Abnormal cerebrospinal fluid morphology	8802	SUCLG1	OMIM:245400
HP:0002921	Abnormal cerebrospinal fluid morphology	8802	SUCLG1	ORPHA:17
HP:0002921	Abnormal cerebrospinal fluid morphology	100303755	PET117	OMIM:619063
HP:0002921	Abnormal cerebrospinal fluid morphology	27247	NFU1	OMIM:605711
HP:0002921	Abnormal cerebrospinal fluid morphology	84842	HPDL	OMIM:619026
HP:0002921	Abnormal cerebrospinal fluid morphology	81570	CLPB	OMIM:616271
HP:0002921	Abnormal cerebrospinal fluid morphology	8803	SUCLA2	OMIM:612073
HP:0002921	Abnormal cerebrospinal fluid morphology	790955	UQCC3	OMIM:616111
HP:0002921	Abnormal cerebrospinal fluid morphology	133686	NADK2	OMIM:616034
HP:0002921	Abnormal cerebrospinal fluid morphology	50484	RRM2B	OMIM:612075
HP:0002921	Abnormal cerebrospinal fluid morphology	27429	HTRA2	OMIM:617248
HP:0002921	Abnormal cerebrospinal fluid morphology	84300	UQCC2	OMIM:615824
HP:0002921	Abnormal cerebrospinal fluid morphology	79731	NARS2	OMIM:616239
HP:0002921	Abnormal cerebrospinal fluid morphology	27010	TPK1	OMIM:614458
HP:0002921	Abnormal cerebrospinal fluid morphology	3028	HSD17B10	ORPHA:391428
HP:0002921	Abnormal cerebrospinal fluid morphology	6253	RTN2	ORPHA:100993
HP:0002921	Abnormal cerebrospinal fluid morphology	51271	UBAP1	ORPHA:100993
HP:0002921	Abnormal cerebrospinal fluid morphology	126129	CPT1C	ORPHA:444099
HP:0002921	Abnormal cerebrospinal fluid morphology	3839	KPNA3	ORPHA:171612
HP:0002921	Abnormal cerebrospinal fluid morphology	7084	TK2	ORPHA:254886
HP:0002921	Abnormal cerebrospinal fluid morphology	9197	SLC33A1	ORPHA:171863
HP:0002921	Abnormal cerebrospinal fluid morphology	1786	DNMT1	ORPHA:314404
HP:0002921	Abnormal cerebrospinal fluid morphology	6843	VAMP1	ORPHA:251282
HP:0002921	Abnormal cerebrospinal fluid morphology	5621	PRNP	ORPHA:282166
HP:0002921	Abnormal cerebrospinal fluid morphology	5621	PRNP	OMIM:123400
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309256
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309271
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309263
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	OMIM:250100
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	ORPHA:309256
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	OMIM:249900
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	OMIM:611722
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	ORPHA:309271
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	ORPHA:206436
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	ORPHA:309263
HP:0002921	Abnormal cerebrospinal fluid morphology	10367	MICU1	OMIM:615673
HP:0002921	Abnormal cerebrospinal fluid morphology	5428	POLG	OMIM:258450
HP:0002921	Abnormal cerebrospinal fluid morphology	5428	POLG	OMIM:203700
HP:0002921	Abnormal cerebrospinal fluid morphology	5428	POLG	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	5191	PEX7	OMIM:266500
HP:0002921	Abnormal cerebrospinal fluid morphology	5264	PHYH	OMIM:266500
HP:0002921	Abnormal cerebrospinal fluid morphology	100506658	OCLN	OMIM:251290
HP:0002921	Abnormal cerebrospinal fluid morphology	1890	TYMP	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	3980	LIG3	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	51099	ABHD5	ORPHA:98907
HP:0002921	Abnormal cerebrospinal fluid morphology	966	CD59	OMIM:612300
HP:0002921	Abnormal cerebrospinal fluid morphology	3119	HLA-DQB1	OMIM:123400
HP:0002921	Abnormal cerebrospinal fluid morphology	7276	TTR	OMIM:105210
HP:0002921	Abnormal cerebrospinal fluid morphology	5903	RANBP2	OMIM:608033
HP:0002921	Abnormal cerebrospinal fluid morphology	5903	RANBP2	ORPHA:88619
HP:0002921	Abnormal cerebrospinal fluid morphology	2632	GBE1	OMIM:263570
HP:0002921	Abnormal cerebrospinal fluid morphology	2512	FTL	ORPHA:157846
HP:0002921	Abnormal cerebrospinal fluid morphology	587	BCAT2	OMIM:618850
HP:0002921	Abnormal cerebrospinal fluid morphology	4359	MPZ	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	4359	MPZ	ORPHA:101082
HP:0002921	Abnormal cerebrospinal fluid morphology	5376	PMP22	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	1959	EGR2	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	57716	PRX	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	4001	LMNB1	ORPHA:99027
HP:0002921	Abnormal cerebrospinal fluid morphology	56244	BTNL2	ORPHA:797
HP:0002921	Abnormal cerebrospinal fluid morphology	3123	HLA-DRB1	ORPHA:797
HP:0002921	Abnormal cerebrospinal fluid morphology	9990	SLC12A6	OMIM:218000
HP:0002921	Abnormal cerebrospinal fluid morphology	4929	NR4A2	ORPHA:98808
HP:0002921	Abnormal cerebrospinal fluid morphology	4929	NR4A2	OMIM:619911
HP:0002921	Abnormal cerebrospinal fluid morphology	3615	IMPDH2	ORPHA:98808
HP:0002921	Abnormal cerebrospinal fluid morphology	7054	TH	OMIM:605407
HP:0002921	Abnormal cerebrospinal fluid morphology	7054	TH	ORPHA:101150
HP:0002921	Abnormal cerebrospinal fluid morphology	55163	PNPO	ORPHA:79096
HP:0002921	Abnormal cerebrospinal fluid morphology	55163	PNPO	OMIM:610090
HP:0002921	Abnormal cerebrospinal fluid morphology	1644	DDC	OMIM:608643
HP:0002921	Abnormal cerebrospinal fluid morphology	9256	TSPOAP1	ORPHA:101150
HP:0002921	Abnormal cerebrospinal fluid morphology	79621	RNASEH2B	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	100147744	RNU7-1	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	64135	IFIH1	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	3458	IFNG	ORPHA:805
HP:0002921	Abnormal cerebrospinal fluid morphology	29998	BICRA	OMIM:619325
HP:0002921	Abnormal cerebrospinal fluid morphology	6599	SMARCC1	OMIM:620241
HP:0002921	Abnormal cerebrospinal fluid morphology	23030	KDM4B	OMIM:619320
HP:0002921	Abnormal cerebrospinal fluid morphology	5551	PRF1	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	5551	PRF1	OMIM:603553
HP:0002921	Abnormal cerebrospinal fluid morphology	8676	STX11	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	201294	UNC13D	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	6813	STXBP2	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	64849	SLC13A3	OMIM:618384
HP:0002921	Abnormal cerebrospinal fluid morphology	103	ADAR	OMIM:615010
HP:0002921	Abnormal cerebrospinal fluid morphology	134353	LSM11	OMIM:619486
HP:0002921	Abnormal cerebrospinal fluid morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0002921	Abnormal cerebrospinal fluid morphology	773	CACNA1A	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	112476	PRRT2	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	6323	SCN1A	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	477	ATP1A2	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	50640	PNPLA8	OMIM:251950
HP:0002921	Abnormal cerebrospinal fluid morphology	1719	DHFR	OMIM:613839
HP:0002921	Abnormal cerebrospinal fluid morphology	23299	BICD2	OMIM:618291
HP:0002921	Abnormal cerebrospinal fluid morphology	2898	GRIK2	OMIM:619580
HP:0002921	Abnormal cerebrospinal fluid morphology	129285	PPP1R21	OMIM:619383
HP:0002921	Abnormal cerebrospinal fluid morphology	84823	LMNB2	OMIM:619180
HP:0002921	Abnormal cerebrospinal fluid morphology	10617	STAMBP	OMIM:614261
HP:0002921	Abnormal cerebrospinal fluid morphology	8567	MADD	OMIM:619004
HP:0002921	Abnormal cerebrospinal fluid morphology	8567	MADD	OMIM:619005
HP:0002921	Abnormal cerebrospinal fluid morphology	23404	EXOSC2	OMIM:617763
HP:0002921	Abnormal cerebrospinal fluid morphology	116461	TSEN15	OMIM:617026
HP:0002921	Abnormal cerebrospinal fluid morphology	9276	COPB2	OMIM:617800
HP:0002921	Abnormal cerebrospinal fluid morphology	200424	TET3	OMIM:618798
HP:0002921	Abnormal cerebrospinal fluid morphology	93627	TBCK	OMIM:616900
HP:0002921	Abnormal cerebrospinal fluid morphology	8021	NUP214	OMIM:618426
HP:0002921	Abnormal cerebrospinal fluid morphology	5805	PTS	OMIM:261640
HP:0002921	Abnormal cerebrospinal fluid morphology	25915	NDUFAF3	ORPHA:70474
HP:0002921	Abnormal cerebrospinal fluid morphology	4714	NDUFB8	ORPHA:70474
HP:0002921	Abnormal cerebrospinal fluid morphology	4720	NDUFS2	ORPHA:70474
HP:0002921	Abnormal cerebrospinal fluid morphology	9997	SCO2	ORPHA:70474
HP:0002921	Abnormal cerebrospinal fluid morphology	6834	SURF1	ORPHA:70474
HP:0002921	Abnormal cerebrospinal fluid morphology	55768	NGLY1	OMIM:615273
HP:0002921	Abnormal cerebrospinal fluid morphology	3514	IGKC	ORPHA:183675
HP:0002921	Abnormal cerebrospinal fluid morphology	3501	IGHG2	ORPHA:183675
HP:0002921	Abnormal cerebrospinal fluid morphology	443	ASPA	OMIM:271900
HP:0002921	Abnormal cerebrospinal fluid morphology	7915	ALDH5A1	OMIM:271980
HP:0002921	Abnormal cerebrospinal fluid morphology	1327	COX4I1	OMIM:619060
HP:0002921	Abnormal cerebrospinal fluid morphology	6531	SLC6A3	OMIM:613135
HP:0002921	Abnormal cerebrospinal fluid morphology	29968	PSAT1	OMIM:610992
HP:0002921	Abnormal cerebrospinal fluid morphology	435	ASL	OMIM:207900
HP:0002921	Abnormal cerebrospinal fluid morphology	6773	STAT2	OMIM:616636
HP:0002921	Abnormal cerebrospinal fluid morphology	3735	KARS1	OMIM:619147
HP:0002921	Abnormal cerebrospinal fluid morphology	1053	CEBPE	OMIM:245480
HP:0002921	Abnormal cerebrospinal fluid morphology	11277	TREX1	OMIM:225750
HP:0002921	Abnormal cerebrospinal fluid morphology	3661	IRF3	OMIM:616532
HP:0002921	Abnormal cerebrospinal fluid morphology	25939	SAMHD1	OMIM:612952
HP:0002921	Abnormal cerebrospinal fluid morphology	84153	RNASEH2C	OMIM:610329
HP:0002921	Abnormal cerebrospinal fluid morphology	7187	TRAF3	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	81622	UNC93B1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	148022	TICAM1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	7098	TLR3	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	29110	TBK1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	22934	RPIA	OMIM:608611
HP:0002921	Abnormal cerebrospinal fluid morphology	1738	DLD	OMIM:246900
HP:0002921	Abnormal cerebrospinal fluid morphology	2752	GLUL	OMIM:610015
HP:0002921	Abnormal cerebrospinal fluid morphology	10157	AASS	ORPHA:2203
HP:0002921	Abnormal cerebrospinal fluid morphology	132	ADK	OMIM:614300
HP:0002921	Abnormal cerebrospinal fluid morphology	2643	GCH1	OMIM:233910
HP:0002921	Abnormal cerebrospinal fluid morphology	388962	BOLA3	OMIM:614299
HP:0002921	Abnormal cerebrospinal fluid morphology	132158	GLYCTK	ORPHA:941
HP:0002921	Abnormal cerebrospinal fluid morphology	1737	DLAT	ORPHA:79244
HP:0002921	Abnormal cerebrospinal fluid morphology	6558	SLC12A2	OMIM:619080
HP:0002922	Increased CSF protein concentration	5621	PRNP	ORPHA:282166
HP:0002922	Increased CSF protein concentration	5621	PRNP	OMIM:123400
HP:0002922	Increased CSF protein concentration	4558	MT-TF	ORPHA:550
HP:0002922	Increased CSF protein concentration	4572	MT-TQ	ORPHA:550
HP:0002922	Increased CSF protein concentration	4512	MT-CO1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4513	MT-CO2	ORPHA:550
HP:0002922	Increased CSF protein concentration	4514	MT-CO3	ORPHA:550
HP:0002922	Increased CSF protein concentration	4578	MT-TW	ORPHA:550
HP:0002922	Increased CSF protein concentration	4540	MT-ND5	ORPHA:550
HP:0002922	Increased CSF protein concentration	4541	MT-ND6	ORPHA:550
HP:0002922	Increased CSF protein concentration	4535	MT-ND1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4538	MT-ND4	ORPHA:550
HP:0002922	Increased CSF protein concentration	4567	MT-TL1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4574	MT-TS1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4575	MT-TS2	ORPHA:550
HP:0002922	Increased CSF protein concentration	4564	MT-TH	ORPHA:550
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309256
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309271
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309263
HP:0002922	Increased CSF protein concentration	410	ARSA	OMIM:250100
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309256
HP:0002922	Increased CSF protein concentration	5660	PSAP	OMIM:249900
HP:0002922	Increased CSF protein concentration	5660	PSAP	OMIM:611722
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309271
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:206436
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309263
HP:0002922	Increased CSF protein concentration	10367	MICU1	OMIM:615673
HP:0002922	Increased CSF protein concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0002922	Increased CSF protein concentration	100996717	NOTCH2NLC	OMIM:603472
HP:0002922	Increased CSF protein concentration	5428	POLG	OMIM:258450
HP:0002922	Increased CSF protein concentration	5428	POLG	OMIM:203700
HP:0002922	Increased CSF protein concentration	5428	POLG	ORPHA:298
HP:0002922	Increased CSF protein concentration	8659	ALDH4A1	ORPHA:79101
HP:0002922	Increased CSF protein concentration	285362	SUMF1	OMIM:272200
HP:0002922	Increased CSF protein concentration	5551	PRF1	OMIM:603553
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206443
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206448
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206436
HP:0002922	Increased CSF protein concentration	2581	GALC	OMIM:245200
HP:0002922	Increased CSF protein concentration	5191	PEX7	OMIM:266500
HP:0002922	Increased CSF protein concentration	5264	PHYH	OMIM:266500
HP:0002922	Increased CSF protein concentration	25828	TXN2	ORPHA:478029
HP:0002922	Increased CSF protein concentration	25828	TXN2	OMIM:616811
HP:0002922	Increased CSF protein concentration	2670	GFAP	OMIM:203450
HP:0002922	Increased CSF protein concentration	100506658	OCLN	OMIM:251290
HP:0002922	Increased CSF protein concentration	1890	TYMP	ORPHA:298
HP:0002922	Increased CSF protein concentration	3980	LIG3	ORPHA:298
HP:0002922	Increased CSF protein concentration	50484	RRM2B	ORPHA:298
HP:0002922	Increased CSF protein concentration	51099	ABHD5	ORPHA:98907
HP:0002922	Increased CSF protein concentration	4724	NDUFS4	OMIM:252010
HP:0002922	Increased CSF protein concentration	966	CD59	OMIM:612300
HP:0002922	Increased CSF protein concentration	3119	HLA-DQB1	OMIM:123400
HP:0002922	Increased CSF protein concentration	773	CACNA1A	ORPHA:569
HP:0002922	Increased CSF protein concentration	112476	PRRT2	ORPHA:569
HP:0002922	Increased CSF protein concentration	6323	SCN1A	ORPHA:569
HP:0002922	Increased CSF protein concentration	477	ATP1A2	ORPHA:569
HP:0002922	Increased CSF protein concentration	7276	TTR	OMIM:105210
HP:0002922	Increased CSF protein concentration	5903	RANBP2	OMIM:608033
HP:0002922	Increased CSF protein concentration	5903	RANBP2	ORPHA:88619
HP:0002922	Increased CSF protein concentration	2632	GBE1	OMIM:263570
HP:0002922	Increased CSF protein concentration	2512	FTL	ORPHA:157846
HP:0002922	Increased CSF protein concentration	587	BCAT2	OMIM:618850
HP:0002922	Increased CSF protein concentration	4359	MPZ	OMIM:145900
HP:0002922	Increased CSF protein concentration	4359	MPZ	ORPHA:101082
HP:0002922	Increased CSF protein concentration	5376	PMP22	OMIM:145900
HP:0002922	Increased CSF protein concentration	1959	EGR2	OMIM:145900
HP:0002922	Increased CSF protein concentration	57716	PRX	OMIM:145900
HP:0002922	Increased CSF protein concentration	4001	LMNB1	ORPHA:99027
HP:0002922	Increased CSF protein concentration	56244	BTNL2	ORPHA:797
HP:0002922	Increased CSF protein concentration	3123	HLA-DRB1	ORPHA:797
HP:0002922	Increased CSF protein concentration	9990	SLC12A6	OMIM:218000
HP:0002922	Increased CSF protein concentration	7187	TRAF3	ORPHA:1930
HP:0002922	Increased CSF protein concentration	81622	UNC93B1	ORPHA:1930
HP:0002922	Increased CSF protein concentration	148022	TICAM1	ORPHA:1930
HP:0002922	Increased CSF protein concentration	7098	TLR3	ORPHA:1930
HP:0002922	Increased CSF protein concentration	29110	TBK1	ORPHA:1930
HP:0002923	Rheumatoid factor positive	355	FAS	ORPHA:3261
HP:0002923	Rheumatoid factor positive	355	FAS	OMIM:601859
HP:0002923	Rheumatoid factor positive	356	FASLG	ORPHA:3261
HP:0002923	Rheumatoid factor positive	356	FASLG	OMIM:601859
HP:0002923	Rheumatoid factor positive	5580	PRKCD	ORPHA:3261
HP:0002923	Rheumatoid factor positive	843	CASP10	ORPHA:3261
HP:0002923	Rheumatoid factor positive	843	CASP10	OMIM:603909
HP:0002923	Rheumatoid factor positive	10125	RASGRP1	ORPHA:3261
HP:0002923	Rheumatoid factor positive	29775	CARD10	OMIM:619632
HP:0002923	Rheumatoid factor positive	8737	RIPK1	OMIM:618852
HP:0002923	Rheumatoid factor positive	8838	CCN6	ORPHA:1159
HP:0002923	Rheumatoid factor positive	79415	CYBC1	OMIM:618935
HP:0002923	Rheumatoid factor positive	3459	IFNGR1	OMIM:209950
HP:0002923	Rheumatoid factor positive	5238	PGM3	ORPHA:443811
HP:0002923	Rheumatoid factor positive	5238	PGM3	OMIM:615816
HP:0002923	Rheumatoid factor positive	340061	STING1	OMIM:615934
HP:0002923	Rheumatoid factor positive	6583	SLC22A4	OMIM:180300
HP:0002923	Rheumatoid factor positive	26191	PTPN22	OMIM:180300
HP:0002923	Rheumatoid factor positive	4261	CIITA	OMIM:180300
HP:0002923	Rheumatoid factor positive	51744	CD244	OMIM:180300
HP:0002923	Rheumatoid factor positive	4795	NFKBIL1	OMIM:180300
HP:0002923	Rheumatoid factor positive	3586	IL10	OMIM:180300
HP:0002923	Rheumatoid factor positive	3106	HLA-B	OMIM:106300
HP:0004319	Decreased circulating aldosterone level	6338	SCNN1B	OMIM:177200
HP:0004319	Decreased circulating aldosterone level	326	AIRE	OMIM:240300
HP:0004319	Decreased circulating aldosterone level	326	AIRE	ORPHA:3453
HP:0004319	Decreased circulating aldosterone level	6337	SCNN1A	OMIM:618126
HP:0004319	Decreased circulating aldosterone level	1583	CYP11A1	ORPHA:168558
HP:0004319	Decreased circulating aldosterone level	1583	CYP11A1	ORPHA:289548
HP:0004319	Decreased circulating aldosterone level	1585	CYP11B2	OMIM:203400
HP:0004319	Decreased circulating aldosterone level	1585	CYP11B2	OMIM:610600
HP:0004319	Decreased circulating aldosterone level	1585	CYP11B2	ORPHA:556030
HP:0004319	Decreased circulating aldosterone level	3291	HSD11B2	OMIM:218030
HP:0004319	Decreased circulating aldosterone level	3291	HSD11B2	ORPHA:320
HP:0004319	Decreased circulating aldosterone level	2908	NR3C1	ORPHA:786
HP:0004319	Decreased circulating aldosterone level	8086	AAAS	OMIM:231550
HP:0004319	Decreased circulating aldosterone level	56246	MRAP	ORPHA:361
HP:0004319	Decreased circulating aldosterone level	6770	STAR	ORPHA:361
HP:0004319	Decreased circulating aldosterone level	4158	MC2R	ORPHA:361
HP:0004319	Decreased circulating aldosterone level	23530	NNT	ORPHA:361
HP:0004319	Decreased circulating aldosterone level	10587	TXNRD2	ORPHA:361
HP:0004319	Decreased circulating aldosterone level	190	NR0B1	OMIM:300200
HP:0004319	Decreased circulating aldosterone level	4306	NR3C2	OMIM:605115
HP:0004319	Decreased circulating aldosterone level	6340	SCNN1G	OMIM:618114
HP:0004319	Decreased circulating aldosterone level	1584	CYP11B1	OMIM:202010
HP:0004319	Decreased circulating aldosterone level	3284	HSD3B2	ORPHA:90791
HP:0004319	Decreased circulating aldosterone level	1586	CYP17A1	ORPHA:90793
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	83483	PLVAP	OMIM:618183
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5373	PMM2	ORPHA:79318
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7840	ALMS1	ORPHA:64
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	51081	MRPS7	OMIM:617872
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2778	GNAS	OMIM:612462
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	405753	DUOXA2	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6528	SLC5A5	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7038	TG	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7173	TPO	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	389434	IYD	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50506	DUOX2	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50506	DUOX2	ORPHA:226316
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7068	THRB	OMIM:145650
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7068	THRB	OMIM:274300
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7355	SLC35A2	ORPHA:356961
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7080	NKX2-1	ORPHA:209905
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7080	NKX2-1	OMIM:610978
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7201	TRHR	ORPHA:99832
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	23137	SMC5	OMIM:620185
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7849	PAX8	OMIM:218700
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	80067	DCAF17	OMIM:241080
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6567	SLC16A2	OMIM:300523
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5159	PDGFRB	OMIM:601812
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	64072	CDH23	ORPHA:91347
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	79048	SECISBP2	ORPHA:171706
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	79048	SECISBP2	OMIM:609698
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1482	NKX2-5	OMIM:225250
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	169792	GLIS3	OMIM:610199
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5573	PRKAR1A	OMIM:101800
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50485	SMARCAL1	OMIM:242900
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5696	PSMB8	OMIM:256040
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7253	TSHR	OMIM:275200
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7253	TSHR	ORPHA:90673
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	55186	SLC25A36	OMIM:620211
HP:0002926	Abnormality of thyroid physiology	83483	PLVAP	OMIM:618183
HP:0002926	Abnormality of thyroid physiology	7528	YY1	ORPHA:506358
HP:0002926	Abnormality of thyroid physiology	2904	GRIN2B	OMIM:613970
HP:0002926	Abnormality of thyroid physiology	84515	MCM8	OMIM:612885
HP:0002926	Abnormality of thyroid physiology	987	LRBA	OMIM:614700
HP:0002926	Abnormality of thyroid physiology	64682	ANAPC1	OMIM:618625
HP:0002926	Abnormality of thyroid physiology	64682	ANAPC1	ORPHA:221008
HP:0002926	Abnormality of thyroid physiology	7518	XRCC4	ORPHA:99812
HP:0002926	Abnormality of thyroid physiology	7518	XRCC4	OMIM:616541
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	ORPHA:99812
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	OMIM:606593
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3766	KCNJ10	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	2299	FOXI1	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:95720
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	64324	NSD1	ORPHA:821
HP:0002926	Abnormality of thyroid physiology	29072	SETD2	ORPHA:821
HP:0002926	Abnormality of thyroid physiology	10297	APC2	ORPHA:821
HP:0002926	Abnormality of thyroid physiology	3190	HNRNPK	ORPHA:453504
HP:0002926	Abnormality of thyroid physiology	3190	HNRNPK	ORPHA:352665
HP:0002926	Abnormality of thyroid physiology	6658	SOX3	OMIM:300123
HP:0002926	Abnormality of thyroid physiology	7018	TF	ORPHA:1195
HP:0002926	Abnormality of thyroid physiology	4141	MARS1	OMIM:615486
HP:0002926	Abnormality of thyroid physiology	2314	FLII	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	23096	IQSEC2	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	10743	RAI1	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	10522	DEAF1	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	3716	JAK1	OMIM:618999
HP:0002926	Abnormality of thyroid physiology	4038	LRP4	ORPHA:3258
HP:0002926	Abnormality of thyroid physiology	324	APC	ORPHA:3258
HP:0002926	Abnormality of thyroid physiology	4868	NPHS1	OMIM:256300
HP:0002926	Abnormality of thyroid physiology	54	ACP5	OMIM:607944
HP:0002926	Abnormality of thyroid physiology	54	ACP5	ORPHA:1855
HP:0002926	Abnormality of thyroid physiology	23250	ATP11A	OMIM:619851
HP:0002926	Abnormality of thyroid physiology	284058	KANSL1	ORPHA:363958
HP:0002926	Abnormality of thyroid physiology	284058	KANSL1	ORPHA:363965
HP:0002926	Abnormality of thyroid physiology	55870	ASH1L	OMIM:617796
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	OMIM:606170
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	OMIM:603736
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	ORPHA:3047
HP:0002926	Abnormality of thyroid physiology	10020	GNE	ORPHA:602
HP:0002926	Abnormality of thyroid physiology	7466	WFS1	OMIM:222300
HP:0002926	Abnormality of thyroid physiology	7466	WFS1	ORPHA:411590
HP:0002926	Abnormality of thyroid physiology	652	BMP4	OMIM:607932
HP:0002926	Abnormality of thyroid physiology	9184	BUB3	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	699	BUB1	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	9702	CEP57	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	9702	CEP57	OMIM:614114
HP:0002926	Abnormality of thyroid physiology	9319	TRIP13	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	701	BUB1B	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	51651	PTRH2	ORPHA:456312
HP:0002926	Abnormality of thyroid physiology	51651	PTRH2	OMIM:616263
HP:0002926	Abnormality of thyroid physiology	2992	GYG1	ORPHA:263297
HP:0002926	Abnormality of thyroid physiology	55148	UBR7	OMIM:619189
HP:0002926	Abnormality of thyroid physiology	55636	CHD7	OMIM:214800
HP:0002926	Abnormality of thyroid physiology	55636	CHD7	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	5373	PMM2	OMIM:212065
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231214
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231222
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231226
HP:0002926	Abnormality of thyroid physiology	388662	SLC6A17	ORPHA:457212
HP:0002926	Abnormality of thyroid physiology	8879	SGPL1	OMIM:617575
HP:0002926	Abnormality of thyroid physiology	3572	IL6ST	OMIM:619750
HP:0002926	Abnormality of thyroid physiology	1593	CYP27A1	ORPHA:909
HP:0002926	Abnormality of thyroid physiology	6774	STAT3	OMIM:615952
HP:0002926	Abnormality of thyroid physiology	25981	DNAH1	OMIM:617577
HP:0002926	Abnormality of thyroid physiology	6804	STX1A	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	7461	CLIP2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	84277	DNAJC30	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	8468	FKBP6	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	5982	RFC2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2969	GTF2I	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	3984	LIMK1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	9569	GTF2IRD1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	155382	VPS37D	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	155368	METTL27	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	114049	BUD23	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	7458	EIF4H	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	84163	GTF2IRD2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	9275	BCL7B	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	26608	TBL2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	653361	NCF1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	135886	TMEM270	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	51085	MLXIPL	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	51085	MLXIPL	OMIM:194050
HP:0002926	Abnormality of thyroid physiology	9031	BAZ1B	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2006	ELN	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2006	ELN	OMIM:194050
HP:0002926	Abnormality of thyroid physiology	54440	SASH3	OMIM:301082
HP:0002926	Abnormality of thyroid physiology	5590	PRKCZ	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	2563	GABRD	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	23013	SPEN	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	8510	MMP23B	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	7798	LUZP1	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	6497	SKI	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	10630	PDPN	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	3339	HSPG2	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	10277	UBE4B	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	8514	KCNAB2	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	473	RERE	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	63976	PRDM16	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	54897	CASZ1	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	6329	SCN4A	ORPHA:99736
HP:0002926	Abnormality of thyroid physiology	80067	DCAF17	ORPHA:3464
HP:0002926	Abnormality of thyroid physiology	128674	PROKR2	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	55717	WDR11	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	6091	ROBO1	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	23432	GPR161	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	2517	FUCA1	ORPHA:349
HP:0002926	Abnormality of thyroid physiology	55719	SLF2	OMIM:620184
HP:0002926	Abnormality of thyroid physiology	26137	ZBTB20	OMIM:259050
HP:0002926	Abnormality of thyroid physiology	27086	FOXP1	ORPHA:391372
HP:0002926	Abnormality of thyroid physiology	5205	ATP8B1	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	8647	ABCB11	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	5244	ABCB4	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	9971	NR1H4	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	6288	SAA1	ORPHA:85445
HP:0002926	Abnormality of thyroid physiology	3481	IGF2	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	1028	CDKN1C	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	5324	PLAG1	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	8091	HMGA2	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	84634	KISS1R	OMIM:176400
HP:0002926	Abnormality of thyroid physiology	64135	IFIH1	OMIM:615846
HP:0002926	Abnormality of thyroid physiology	64135	IFIH1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	7248	TSC1	OMIM:191100
HP:0002926	Abnormality of thyroid physiology	111	ADCY5	OMIM:619647
HP:0002926	Abnormality of thyroid physiology	84919	PPP1R15B	OMIM:616817
HP:0002926	Abnormality of thyroid physiology	84919	PPP1R15B	ORPHA:391408
HP:0002926	Abnormality of thyroid physiology	7841	MOGS	ORPHA:79330
HP:0002926	Abnormality of thyroid physiology	3662	IRF4	ORPHA:3452
HP:0002926	Abnormality of thyroid physiology	2683	B4GALT1	ORPHA:79332
HP:0002926	Abnormality of thyroid physiology	4351	MPI	ORPHA:79319
HP:0002926	Abnormality of thyroid physiology	775	CACNA1C	OMIM:601005
HP:0002926	Abnormality of thyroid physiology	326	AIRE	OMIM:240300
HP:0002926	Abnormality of thyroid physiology	85365	ALG2	OMIM:607906
HP:0002926	Abnormality of thyroid physiology	5286	PIK3C2A	OMIM:618440
HP:0002926	Abnormality of thyroid physiology	10661	KLF1	OMIM:613673
HP:0002926	Abnormality of thyroid physiology	3977	LIFR	ORPHA:3206
HP:0002926	Abnormality of thyroid physiology	654	BMP6	ORPHA:465508
HP:0002926	Abnormality of thyroid physiology	3077	HFE	ORPHA:465508
HP:0002926	Abnormality of thyroid physiology	374969	SVBP	OMIM:618569
HP:0002926	Abnormality of thyroid physiology	3242	HPD	ORPHA:2118
HP:0002926	Abnormality of thyroid physiology	1642	DDB1	OMIM:619426
HP:0002926	Abnormality of thyroid physiology	3559	IL2RA	OMIM:606367
HP:0002926	Abnormality of thyroid physiology	10535	RNASEH2A	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	84153	RNASEH2C	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	25939	SAMHD1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	79621	RNASEH2B	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	103	ADAR	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	11277	TREX1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	11277	TREX1	OMIM:225750
HP:0002926	Abnormality of thyroid physiology	100147744	RNU7-1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	100147744	RNU7-1	OMIM:619487
HP:0002926	Abnormality of thyroid physiology	134353	LSM11	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	4558	MT-TF	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4572	MT-TQ	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4512	MT-CO1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4513	MT-CO2	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4514	MT-CO3	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4578	MT-TW	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4540	MT-ND5	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4541	MT-ND6	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4535	MT-ND1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4538	MT-ND4	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4567	MT-TL1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4567	MT-TL1	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4574	MT-TS1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4574	MT-TS1	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4575	MT-TS2	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4564	MT-TH	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	1859	DYRK1A	ORPHA:268261
HP:0002926	Abnormality of thyroid physiology	9780	PIEZO1	OMIM:616843
HP:0002926	Abnormality of thyroid physiology	10785	WDR4	OMIM:618347
HP:0002926	Abnormality of thyroid physiology	81570	CLPB	ORPHA:445038
HP:0002926	Abnormality of thyroid physiology	2258	FGF13	OMIM:301058
HP:0002926	Abnormality of thyroid physiology	27125	AFF4	ORPHA:444077
HP:0002926	Abnormality of thyroid physiology	4568	MT-TL2	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4570	MT-TN	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	6299	SALL1	OMIM:107480
HP:0002926	Abnormality of thyroid physiology	6299	SALL1	ORPHA:857
HP:0002926	Abnormality of thyroid physiology	2623	GATA1	OMIM:190685
HP:0002926	Abnormality of thyroid physiology	29998	BICRA	OMIM:619325
HP:0002926	Abnormality of thyroid physiology	113179	ADAT3	ORPHA:363528
HP:0002926	Abnormality of thyroid physiology	3547	IGSF1	OMIM:300888
HP:0002926	Abnormality of thyroid physiology	55215	FANCI	OMIM:609053
HP:0002926	Abnormality of thyroid physiology	1027	CDKN1B	OMIM:610755
HP:0002926	Abnormality of thyroid physiology	348	APOE	ORPHA:412
HP:0002926	Abnormality of thyroid physiology	3767	KCNJ11	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	346171	ZFP57	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	57061	HYMAI	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	6833	ABCC8	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	5325	PLAGL1	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	2542	SLC37A4	ORPHA:79259
HP:0002926	Abnormality of thyroid physiology	10059	DNM1L	ORPHA:98673
HP:0002926	Abnormality of thyroid physiology	4976	OPA1	ORPHA:98673
HP:0002926	Abnormality of thyroid physiology	2530	FUT8	OMIM:618005
HP:0002926	Abnormality of thyroid physiology	55240	STEAP3	ORPHA:300298
HP:0002926	Abnormality of thyroid physiology	201163	FLCN	OMIM:610883
HP:0002926	Abnormality of thyroid physiology	708	C1QBP	OMIM:617713
HP:0002926	Abnormality of thyroid physiology	2917	GRM7	OMIM:618922
HP:0002926	Abnormality of thyroid physiology	4547	MTTP	ORPHA:14
HP:0002926	Abnormality of thyroid physiology	112812	FDX2	OMIM:251900
HP:0002926	Abnormality of thyroid physiology	3293	HSD17B3	OMIM:264300
HP:0002926	Abnormality of thyroid physiology	3293	HSD17B3	ORPHA:752
HP:0002926	Abnormality of thyroid physiology	128989	TANGO2	OMIM:616878
HP:0002926	Abnormality of thyroid physiology	55186	SLC25A36	OMIM:620211
HP:0002926	Abnormality of thyroid physiology	7074	TIAM1	OMIM:619908
HP:0002926	Abnormality of thyroid physiology	9757	KMT2B	ORPHA:589618
HP:0002926	Abnormality of thyroid physiology	84265	POLR3GL	OMIM:619234
HP:0002926	Abnormality of thyroid physiology	57003	CCDC47	OMIM:618268
HP:0002926	Abnormality of thyroid physiology	10526	IPO8	OMIM:619472
HP:0002926	Abnormality of thyroid physiology	2643	GCH1	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	4929	NR4A2	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	3615	IMPDH2	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	7249	TSC2	OMIM:613254
HP:0002926	Abnormality of thyroid physiology	3458	IFNG	OMIM:613254
HP:0002926	Abnormality of thyroid physiology	6023	RMRP	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	5896	RAG1	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	5897	RAG2	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	64421	DCLRE1C	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	100	ADA	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3575	IL7R	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3561	IL2RG	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	6928	HNF1B	ORPHA:93111
HP:0002926	Abnormality of thyroid physiology	8405	SPOP	OMIM:618829
HP:0002926	Abnormality of thyroid physiology	2132	EXT2	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	60529	ALX4	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	51317	PHF21A	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	54880	BCOR	OMIM:300166
HP:0002926	Abnormality of thyroid physiology	83737	ITCH	OMIM:613385
HP:0002926	Abnormality of thyroid physiology	83737	ITCH	ORPHA:228426
HP:0002926	Abnormality of thyroid physiology	2890	GRIA1	OMIM:619927
HP:0002926	Abnormality of thyroid physiology	51339	DACT1	ORPHA:857
HP:0002926	Abnormality of thyroid physiology	93587	TRMT10A	ORPHA:391408
HP:0002926	Abnormality of thyroid physiology	2767	GNA11	ORPHA:1556
HP:0002926	Abnormality of thyroid physiology	151188	ARL6IP6	ORPHA:1556
HP:0002926	Abnormality of thyroid physiology	9759	HDAC4	OMIM:600430
HP:0002926	Abnormality of thyroid physiology	2193	FARSA	OMIM:619013
HP:0002926	Abnormality of thyroid physiology	10273	STUB1	ORPHA:412057
HP:0002926	Abnormality of thyroid physiology	4194	MDM4	OMIM:618849
HP:0002926	Abnormality of thyroid physiology	131118	DNAJC19	ORPHA:66634
HP:0002926	Abnormality of thyroid physiology	5557	PRIM1	OMIM:620005
HP:0002926	Abnormality of thyroid physiology	79644	SRD5A3	ORPHA:324737
HP:0002926	Abnormality of thyroid physiology	1604	CD55	OMIM:226300
HP:0002926	Abnormality of thyroid physiology	3735	KARS1	OMIM:619147
HP:0002926	Abnormality of thyroid physiology	23404	EXOSC2	OMIM:617763
HP:0002926	Abnormality of thyroid physiology	9652	SKIC3	ORPHA:84064
HP:0002926	Abnormality of thyroid physiology	6499	SKIC2	ORPHA:84064
HP:0002926	Abnormality of thyroid physiology	6736	SRY	ORPHA:1772
HP:0002926	Abnormality of thyroid physiology	5167	ENPP1	ORPHA:758
HP:0002926	Abnormality of thyroid physiology	368	ABCC6	ORPHA:758
HP:0002926	Abnormality of thyroid physiology	1497	CTNS	OMIM:219800
HP:0002926	Abnormality of thyroid physiology	1650	DDOST	ORPHA:300536
HP:0002926	Abnormality of thyroid physiology	197131	UBR1	OMIM:243800
HP:0002926	Abnormality of thyroid physiology	6772	STAT1	ORPHA:391487
HP:0002926	Abnormality of thyroid physiology	10043	TOM1	ORPHA:391487
HP:0002926	Abnormality of thyroid physiology	291	SLC25A4	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	5428	POLG	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	56652	TWNK	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	11232	POLG2	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	50484	RRM2B	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	2332	FMR1	ORPHA:449291
HP:0002926	Abnormality of thyroid physiology	55154	MSTO1	OMIM:617675
HP:0002926	Abnormality of thyroid physiology	55154	MSTO1	ORPHA:502423
HP:0002926	Abnormality of thyroid physiology	2778	GNAS	OMIM:174800
HP:0002926	Abnormality of thyroid physiology	2778	GNAS	ORPHA:562
HP:0002926	Abnormality of thyroid physiology	50943	FOXP3	ORPHA:37042
HP:0002926	Abnormality of thyroid physiology	3759	KCNJ2	OMIM:170390
HP:0002926	Abnormality of thyroid physiology	2556	GABRA3	ORPHA:79102
HP:0002926	Abnormality of thyroid physiology	779	CACNA1S	ORPHA:79102
HP:0002926	Abnormality of thyroid physiology	779	CACNA1S	OMIM:188580
HP:0002926	Abnormality of thyroid physiology	1312	COMT	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	221037	JMJD1C	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	2812	GP1BB	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	6239	RREB1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	6899	TBX1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	7290	HIRA	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	9632	SEC24C	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	7353	UFD1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	421	ARVCF	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	79783	SUGCT	OMIM:231690
HP:0002926	Abnormality of thyroid physiology	5728	PTEN	OMIM:158350
HP:0002926	Abnormality of thyroid physiology	93627	TBCK	ORPHA:488632
HP:0002926	Abnormality of thyroid physiology	5290	PIK3CA	OMIM:615108
HP:0002926	Abnormality of thyroid physiology	207	AKT1	OMIM:615109
HP:0002926	Abnormality of thyroid physiology	9817	KEAP1	ORPHA:276399
HP:0002926	Abnormality of thyroid physiology	23405	DICER1	ORPHA:276399
HP:0002926	Abnormality of thyroid physiology	11128	POLR3A	ORPHA:3455
HP:0002926	Abnormality of thyroid physiology	56244	BTNL2	ORPHA:797
HP:0002926	Abnormality of thyroid physiology	3123	HLA-DRB1	ORPHA:797
HP:0002926	Abnormality of thyroid physiology	2304	FOXE1	OMIM:241850
HP:0002926	Abnormality of thyroid physiology	2304	FOXE1	ORPHA:1226
HP:0002926	Abnormality of thyroid physiology	2627	GATA6	ORPHA:2255
HP:0002926	Abnormality of thyroid physiology	145173	B3GLCT	ORPHA:709
HP:0002926	Abnormality of thyroid physiology	7080	NKX2-1	ORPHA:209905
HP:0002926	Abnormality of thyroid physiology	7080	NKX2-1	OMIM:610978
HP:0002926	Abnormality of thyroid physiology	8085	KMT2D	OMIM:620186
HP:0002926	Abnormality of thyroid physiology	8085	KMT2D	OMIM:147920
HP:0002926	Abnormality of thyroid physiology	4796	TONSL	OMIM:271510
HP:0002926	Abnormality of thyroid physiology	526	ATP6V1B2	ORPHA:79500
HP:0002926	Abnormality of thyroid physiology	57465	TBC1D24	ORPHA:79500
HP:0002926	Abnormality of thyroid physiology	5573	PRKAR1A	ORPHA:280651
HP:0002926	Abnormality of thyroid physiology	5573	PRKAR1A	OMIM:101800
HP:0002926	Abnormality of thyroid physiology	5144	PDE4D	ORPHA:280651
HP:0002926	Abnormality of thyroid physiology	5144	PDE4D	OMIM:614613
HP:0002926	Abnormality of thyroid physiology	56246	MRAP	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	6770	STAR	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	4158	MC2R	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	23530	NNT	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	23530	NNT	OMIM:614736
HP:0002926	Abnormality of thyroid physiology	10587	TXNRD2	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	7067	THRA	OMIM:614450
HP:0002926	Abnormality of thyroid physiology	83696	TRAPPC9	ORPHA:352530
HP:0002926	Abnormality of thyroid physiology	92949	ADAMTSL1	ORPHA:521445
HP:0002926	Abnormality of thyroid physiology	2782	GNB1	OMIM:616973
HP:0002926	Abnormality of thyroid physiology	9373	PLAA	OMIM:617527
HP:0002926	Abnormality of thyroid physiology	79693	YRDC	OMIM:619609
HP:0002926	Abnormality of thyroid physiology	7403	KDM6A	OMIM:147920
HP:0002926	Abnormality of thyroid physiology	50485	SMARCAL1	ORPHA:1830
HP:0002926	Abnormality of thyroid physiology	2626	GATA4	OMIM:615542
HP:0002926	Abnormality of thyroid physiology	6567	SLC16A2	ORPHA:59
HP:0002926	Abnormality of thyroid physiology	7200	TRH	OMIM:275120
HP:0002926	Abnormality of thyroid physiology	8314	BAP1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	4771	NF2	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6598	SMARCB1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	5155	PDGFB	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	84231	TRAF7	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6608	SMO	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	7015	TERT	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	51684	SUFU	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6605	SMARCE1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	2737	GLI3	ORPHA:672
HP:0002926	Abnormality of thyroid physiology	55131	RBM28	ORPHA:157954
HP:0002926	Abnormality of thyroid physiology	5122	PCSK1	ORPHA:71528
HP:0002926	Abnormality of thyroid physiology	3953	LEPR	OMIM:614963
HP:0002926	Abnormality of thyroid physiology	3953	LEPR	ORPHA:179494
HP:0002926	Abnormality of thyroid physiology	5443	POMC	ORPHA:71526
HP:0002926	Abnormality of thyroid physiology	91147	TMEM67	OMIM:602152
HP:0002926	Abnormality of thyroid physiology	3170	FOXA2	ORPHA:95494
HP:0002926	Abnormality of thyroid physiology	5015	OTX2	ORPHA:95494
HP:0002926	Abnormality of thyroid physiology	283987	HID1	OMIM:619983
HP:0002926	Abnormality of thyroid physiology	4221	MEN1	ORPHA:2965
HP:0002926	Abnormality of thyroid physiology	9049	AIP	ORPHA:2965
HP:0002926	Abnormality of thyroid physiology	3952	LEP	ORPHA:66628
HP:0002926	Abnormality of thyroid physiology	9915	ARNT2	OMIM:615926
HP:0002926	Abnormality of thyroid physiology	5456	POU3F4	ORPHA:1435
HP:0002926	Abnormality of thyroid physiology	1499	CTNNB1	ORPHA:54595
HP:0002926	Abnormality of thyroid physiology	673	BRAF	ORPHA:54595
HP:0002926	Abnormality of thyroid physiology	7276	TTR	OMIM:145680
HP:0002926	Abnormality of thyroid physiology	64072	CDH23	ORPHA:91347
HP:0002926	Abnormality of thyroid physiology	6134	RPL10	OMIM:300998
HP:0002926	Abnormality of thyroid physiology	340533	NEXMIF	OMIM:300912
HP:0002926	Abnormality of thyroid physiology	23247	KATNIP	OMIM:616784
HP:0002926	Abnormality of thyroid physiology	23312	DMXL2	ORPHA:453533
HP:0002926	Abnormality of thyroid physiology	23312	DMXL2	OMIM:616113
HP:0002926	Abnormality of thyroid physiology	2260	FGFR1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	2260	FGFR1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	28514	DLL1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	28514	DLL1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	28514	DLL1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	28514	DLL1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	10735	STAG2	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	10735	STAG2	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	2253	FGF8	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	2253	FGF8	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	2253	FGF8	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	2253	FGF8	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	8243	SMC1A	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6496	SIX3	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6496	SIX3	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	6496	SIX3	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	6496	SIX3	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	7050	TGIF1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	7050	TGIF1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	7050	TGIF1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	7050	TGIF1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	4838	NODAL	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	4838	NODAL	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	4838	NODAL	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	4838	NODAL	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	6469	SHH	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6469	SHH	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	6469	SHH	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	6469	SHH	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	7546	ZIC2	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	7546	ZIC2	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	7546	ZIC2	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	7546	ZIC2	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	2619	GAS1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	2619	GAS1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	2619	GAS1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	2619	GAS1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	84976	DISP1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	84976	DISP1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	84976	DISP1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	84976	DISP1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	2736	GLI2	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	2736	GLI2	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	2736	GLI2	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	2736	GLI2	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	8928	FOXH1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	8928	FOXH1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	8928	FOXH1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	8928	FOXH1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	5727	PTCH1	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	5727	PTCH1	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	5727	PTCH1	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	5727	PTCH1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	3643	INSR	ORPHA:508
HP:0002926	Abnormality of thyroid physiology	9451	EIF2AK3	ORPHA:1667
HP:0002926	Abnormality of thyroid physiology	51199	NIN	OMIM:614851
HP:0002926	Abnormality of thyroid physiology	6492	SIM1	ORPHA:398079
HP:0002926	Abnormality of thyroid physiology	23007	PLCH1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	26040	SETBP1	ORPHA:798
HP:0002926	Abnormality of thyroid physiology	405753	DUOXA2	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	6528	SLC5A5	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	7038	TG	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	7173	TPO	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	389434	IYD	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	50506	DUOX2	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	7253	TSHR	OMIM:609152
HP:0002926	Abnormality of thyroid physiology	7253	TSHR	OMIM:603373
HP:0002926	Abnormality of thyroid physiology	79048	SECISBP2	ORPHA:171706
HP:0002926	Abnormality of thyroid physiology	79048	SECISBP2	OMIM:609698
HP:0002926	Abnormality of thyroid physiology	100134444	KCNJ18	OMIM:613239
HP:0002926	Abnormality of thyroid physiology	7068	THRB	OMIM:274300
HP:0002926	Abnormality of thyroid physiology	7840	ALMS1	ORPHA:64
HP:0002926	Abnormality of thyroid physiology	7849	PAX8	OMIM:218700
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	7201	TRHR	OMIM:618573
HP:0002926	Abnormality of thyroid physiology	7201	TRHR	ORPHA:99832
HP:0002926	Abnormality of thyroid physiology	5626	PROP1	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	89884	LHX4	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	8022	LHX3	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	5449	POU1F1	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	8820	HESX1	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	169792	GLIS3	OMIM:610199
HP:0002926	Abnormality of thyroid physiology	79053	ALG8	OMIM:608104
HP:0002926	Abnormality of thyroid physiology	7252	TSHB	OMIM:275100
HP:0002926	Abnormality of thyroid physiology	7252	TSHB	ORPHA:90674
HP:0002926	Abnormality of thyroid physiology	8239	USP9X	ORPHA:480880
HP:0002926	Abnormality of thyroid physiology	54914	FOCAD	OMIM:619991
HP:0002926	Abnormality of thyroid physiology	213	ALB	OMIM:615999
HP:0002926	Abnormality of thyroid physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0002926	Abnormality of thyroid physiology	8471	IRS4	OMIM:301035
HP:0002926	Abnormality of thyroid physiology	1482	NKX2-5	OMIM:225250
HP:0002926	Abnormality of thyroid physiology	1363	CPE	OMIM:619326
HP:0002926	Abnormality of thyroid physiology	6907	TBL1X	OMIM:301033
HP:0002926	Abnormality of thyroid physiology	8567	MADD	OMIM:619004
HP:0002926	Abnormality of thyroid physiology	1733	DIO1	OMIM:619855
HP:0002926	Abnormality of thyroid physiology	1188	CLCNKB	ORPHA:358
HP:0002926	Abnormality of thyroid physiology	6559	SLC12A3	ORPHA:358
HP:0002927	Histidinuria	3034	HAL	OMIM:235800
HP:0002927	Histidinuria	3034	HAL	ORPHA:2157
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	6389	SDHA	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	80704	SLC19A3	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	91942	NDUFAF2	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	6834	SURF1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4723	NDUFV1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	55572	FOXRED1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4729	NDUFV2	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	55967	NDUFA12	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51204	TACO1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4720	NDUFS2	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4724	NDUFS4	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4728	NDUFS8	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	137682	NDUFAF6	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4722	NDUFS3	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	79133	NDUFAF5	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	5160	PDHA1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	5160	PDHA1	OMIM:312170
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	100131801	PET100	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1355	COX15	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1892	ECHS1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1892	ECHS1	OMIM:616277
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	123263	MTFMT	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51079	NDUFA13	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	374291	NDUFS7	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4705	NDUFA10	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51601	LIPT1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4719	NDUFS1	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4695	NDUFA2	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4697	NDUFA4	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4704	NDUFA9	ORPHA:255241
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1737	DLAT	OMIM:245348
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51218	GLRX5	ORPHA:401866
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51218	GLRX5	OMIM:616859
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	8050	PDHX	OMIM:245349
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	8050	PDHX	ORPHA:255182
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	5162	PDHB	ORPHA:255138
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	11019	LIAS	OMIM:614462
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	388962	BOLA3	OMIM:614299
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	64116	SLC39A8	ORPHA:468699
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	54704	PDP1	OMIM:608782
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	54704	PDP1	ORPHA:79246
HP:0002929	Leydig cell insensitivity to gonadotropin	3730	ANOS1	OMIM:308700
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:145650
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:274300
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:188570
HP:0002930	Impaired sensitivity to thyroid hormone	7067	THRA	OMIM:614450
HP:0003108	Hyperglycinuria	2731	GLDC	OMIM:605899
HP:0003108	Hyperglycinuria	275	AMT	OMIM:605899
HP:0003108	Hyperglycinuria	3712	IVD	OMIM:243500
HP:0003108	Hyperglycinuria	153201	SLC36A2	OMIM:242600
HP:0003108	Hyperglycinuria	153201	SLC36A2	ORPHA:42062
HP:0003108	Hyperglycinuria	153201	SLC36A2	OMIM:138500
HP:0003108	Hyperglycinuria	27247	NFU1	OMIM:605711
HP:0003108	Hyperglycinuria	348932	SLC6A18	ORPHA:42062
HP:0003108	Hyperglycinuria	54716	SLC6A20	ORPHA:42062
HP:0003108	Hyperglycinuria	340024	SLC6A19	ORPHA:42062
HP:0003108	Hyperglycinuria	34	ACADM	OMIM:201450
HP:0003108	Hyperglycinuria	5625	PRODH	OMIM:239500
HP:0003108	Hyperglycinuria	64087	MCCC2	OMIM:210210
HP:0003108	Hyperglycinuria	132158	GLYCTK	ORPHA:941
HP:0003108	Hyperglycinuria	8659	ALDH4A1	OMIM:239510
HP:0003108	Hyperglycinuria	5095	PCCA	OMIM:606054
HP:0003108	Hyperglycinuria	5096	PCCB	OMIM:606054
HP:0002932	Aldehyde oxidase deficiency	4337	MOCS1	OMIM:252150
HP:0002933	Ventral hernia	64359	NXN	OMIM:618529
HP:0002933	Ventral hernia	117581	TWIST2	OMIM:200110
HP:0002933	Ventral hernia	165	AEBP1	ORPHA:536532
HP:0002933	Ventral hernia	165	AEBP1	OMIM:618000
HP:0002933	Ventral hernia	23126	POGZ	ORPHA:468678
HP:0002937	Hemivertebrae	2737	GLI3	ORPHA:672
HP:0002937	Hemivertebrae	2737	GLI3	OMIM:146510
HP:0002937	Hemivertebrae	2737	GLI3	ORPHA:93322
HP:0002937	Hemivertebrae	9791	PTDSS1	OMIM:151050
HP:0002937	Hemivertebrae	5447	POR	OMIM:201750
HP:0002937	Hemivertebrae	6909	TBX2	OMIM:618223
HP:0002937	Hemivertebrae	8558	CDK10	OMIM:617694
HP:0002937	Hemivertebrae	145173	B3GLCT	OMIM:261540
HP:0002937	Hemivertebrae	1857	DVL3	ORPHA:3107
HP:0002937	Hemivertebrae	7474	WNT5A	ORPHA:3107
HP:0002937	Hemivertebrae	1855	DVL1	ORPHA:3107
HP:0002937	Hemivertebrae	2535	FZD2	ORPHA:3107
HP:0002937	Hemivertebrae	134701	RIPPLY2	OMIM:616566
HP:0002937	Hemivertebrae	5885	RAD21	OMIM:614701
HP:0002937	Hemivertebrae	6650	CAPN15	OMIM:619318
HP:0002937	Hemivertebrae	10992	SF3B2	OMIM:164210
HP:0002937	Hemivertebrae	54499	TMCO1	OMIM:213980
HP:0002937	Hemivertebrae	54499	TMCO1	ORPHA:1394
HP:0002937	Hemivertebrae	546	ATRX	OMIM:301040
HP:0002937	Hemivertebrae	526	ATP6V1B2	ORPHA:79500
HP:0002937	Hemivertebrae	57465	TBC1D24	ORPHA:79500
HP:0002937	Hemivertebrae	6651	SON	OMIM:617140
HP:0002937	Hemivertebrae	6651	SON	ORPHA:500150
HP:0002937	Hemivertebrae	4920	ROR2	OMIM:113000
HP:0002937	Hemivertebrae	4920	ROR2	OMIM:268310
HP:0002937	Hemivertebrae	8942	KYNU	OMIM:617661
HP:0002937	Hemivertebrae	8085	KMT2D	ORPHA:2322
HP:0002937	Hemivertebrae	7403	KDM6A	ORPHA:2322
HP:0002937	Hemivertebrae	182	JAG1	OMIM:118450
HP:0002937	Hemivertebrae	388015	RTL1	ORPHA:96334
HP:0002937	Hemivertebrae	8788	DLK1	ORPHA:96334
HP:0002937	Hemivertebrae	55384	MEG3	ORPHA:96334
HP:0002937	Hemivertebrae	10683	DLL3	OMIM:277300
HP:0002937	Hemivertebrae	145873	MESP2	OMIM:277300
HP:0002937	Hemivertebrae	145873	MESP2	OMIM:608681
HP:0002937	Hemivertebrae	55636	CHD7	ORPHA:138
HP:0002937	Hemivertebrae	55636	CHD7	OMIM:214800
HP:0002937	Hemivertebrae	9723	SEMA3E	ORPHA:138
HP:0002937	Hemivertebrae	2187	FANCB	ORPHA:3412
HP:0002937	Hemivertebrae	5727	PTCH1	ORPHA:377
HP:0002937	Hemivertebrae	5727	PTCH1	OMIM:109400
HP:0002937	Hemivertebrae	8643	PTCH2	ORPHA:377
HP:0002937	Hemivertebrae	51684	SUFU	ORPHA:377
HP:0002937	Hemivertebrae	6657	SOX2	ORPHA:77298
HP:0002937	Hemivertebrae	6657	SOX2	OMIM:206900
HP:0002937	Hemivertebrae	9897	WASHC5	OMIM:220210
HP:0002937	Hemivertebrae	9897	WASHC5	ORPHA:7
HP:0002937	Hemivertebrae	55777	MBD5	OMIM:156200
HP:0002937	Hemivertebrae	4621	MYH3	OMIM:178110
HP:0002937	Hemivertebrae	4998	ORC1	OMIM:224690
HP:0002937	Hemivertebrae	51360	MBTPS2	ORPHA:85284
HP:0002937	Hemivertebrae	7476	WNT7A	OMIM:276820
HP:0002937	Hemivertebrae	28952	CCDC22	ORPHA:7
HP:0002937	Hemivertebrae	10682	EBP	OMIM:302960
HP:0002937	Hemivertebrae	26175	LYSET	OMIM:619345
HP:0002937	Hemivertebrae	22827	PUF60	OMIM:615583
HP:0002937	Hemivertebrae	84667	HES7	OMIM:613686
HP:0002937	Hemivertebrae	8517	IKBKG	OMIM:308300
HP:0002937	Hemivertebrae	4990	SIX6	OMIM:206900
HP:0002937	Hemivertebrae	6911	TBX6	OMIM:122600
HP:0002937	Hemivertebrae	4038	LRP4	OMIM:212780
HP:0002937	Hemivertebrae	10606	PAICS	OMIM:619859
HP:0002937	Hemivertebrae	2260	FGFR1	OMIM:190440
HP:0002937	Hemivertebrae	1984	EIF5A	OMIM:619376
HP:0002937	Hemivertebrae	10735	STAG2	OMIM:301043
HP:0002937	Hemivertebrae	3021	H3-3B	OMIM:619721
HP:0002937	Hemivertebrae	8567	MADD	OMIM:619004
HP:0002938	Lumbar hyperlordosis	2137	EXTL3	ORPHA:508533
HP:0002938	Lumbar hyperlordosis	6399	TRAPPC2	ORPHA:93284
HP:0002938	Lumbar hyperlordosis	6399	TRAPPC2	OMIM:313400
HP:0002938	Lumbar hyperlordosis	65992	DDRGK1	OMIM:602557
HP:0002938	Lumbar hyperlordosis	2335	FN1	ORPHA:93315
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	ORPHA:93315
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	ORPHA:94068
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	OMIM:183900
HP:0002938	Lumbar hyperlordosis	4010	LMX1B	ORPHA:2614
HP:0002938	Lumbar hyperlordosis	4010	LMX1B	OMIM:161200
HP:0002938	Lumbar hyperlordosis	23314	SATB2	ORPHA:251028
HP:0002938	Lumbar hyperlordosis	7415	VCP	OMIM:167320
HP:0002938	Lumbar hyperlordosis	7415	VCP	ORPHA:435387
HP:0002938	Lumbar hyperlordosis	23363	OBSL1	OMIM:612921
HP:0002938	Lumbar hyperlordosis	50814	NSDHL	ORPHA:251383
HP:0002938	Lumbar hyperlordosis	10060	ABCC9	OMIM:619719
HP:0002938	Lumbar hyperlordosis	59341	TRPV4	ORPHA:93314
HP:0002938	Lumbar hyperlordosis	411	ARSB	OMIM:253200
HP:0002938	Lumbar hyperlordosis	1302	COL11A2	OMIM:215150
HP:0002938	Lumbar hyperlordosis	1302	COL11A2	ORPHA:1427
HP:0002938	Lumbar hyperlordosis	2617	GARS1	OMIM:619042
HP:0002938	Lumbar hyperlordosis	473	RERE	OMIM:616975
HP:0002938	Lumbar hyperlordosis	10216	PRG4	ORPHA:2848
HP:0002938	Lumbar hyperlordosis	57156	TMEM63C	OMIM:619966
HP:0002938	Lumbar hyperlordosis	25782	RAB3GAP2	OMIM:212720
HP:0002938	Lumbar hyperlordosis	176	ACAN	OMIM:612813
HP:0002938	Lumbar hyperlordosis	176	ACAN	OMIM:165800
HP:0002938	Lumbar hyperlordosis	176	ACAN	ORPHA:171866
HP:0002938	Lumbar hyperlordosis	4625	MYH7	OMIM:160500
HP:0002938	Lumbar hyperlordosis	29925	GMPPB	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	29925	GMPPB	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	2673	GFPT1	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	1798	DPAGT1	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	85365	ALG2	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	199857	ALG14	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	54808	DYM	OMIM:223800
HP:0002938	Lumbar hyperlordosis	6660	SOX5	ORPHA:313892
HP:0002938	Lumbar hyperlordosis	4148	MATN3	ORPHA:156728
HP:0002938	Lumbar hyperlordosis	4148	MATN3	OMIM:608728
HP:0002938	Lumbar hyperlordosis	1300	COL10A1	ORPHA:174
HP:0002938	Lumbar hyperlordosis	1300	COL10A1	OMIM:156500
HP:0002938	Lumbar hyperlordosis	65082	VPS33A	ORPHA:505248
HP:0002938	Lumbar hyperlordosis	54	ACP5	OMIM:607944
HP:0002938	Lumbar hyperlordosis	8925	HERC1	ORPHA:457359
HP:0002938	Lumbar hyperlordosis	55870	ASH1L	OMIM:617796
HP:0002938	Lumbar hyperlordosis	4052	LTBP1	OMIM:619451
HP:0002938	Lumbar hyperlordosis	84665	MYPN	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7169	TPM2	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7170	TPM3	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7170	TPM3	OMIM:255310
HP:0002938	Lumbar hyperlordosis	9469	CHST3	OMIM:143095
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:146000
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	ORPHA:15
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:616482
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:100800
HP:0002938	Lumbar hyperlordosis	4604	MYBPC1	OMIM:618524
HP:0002938	Lumbar hyperlordosis	64131	XYLT1	OMIM:615777
HP:0002938	Lumbar hyperlordosis	1292	COL6A2	OMIM:255600
HP:0002938	Lumbar hyperlordosis	1292	COL6A2	ORPHA:610
HP:0002938	Lumbar hyperlordosis	157680	VPS13B	OMIM:216550
HP:0002938	Lumbar hyperlordosis	23116	TOGARAM1	OMIM:619185
HP:0002938	Lumbar hyperlordosis	7703	PCGF2	OMIM:618371
HP:0002938	Lumbar hyperlordosis	1605	DAG1	ORPHA:280333
HP:0002938	Lumbar hyperlordosis	1605	DAG1	OMIM:613818
HP:0002938	Lumbar hyperlordosis	3549	IHH	OMIM:607778
HP:0002938	Lumbar hyperlordosis	633	BGN	OMIM:300106
HP:0002938	Lumbar hyperlordosis	164	AP1G1	OMIM:619467
HP:0002938	Lumbar hyperlordosis	26040	SETBP1	OMIM:616078
HP:0002938	Lumbar hyperlordosis	6023	RMRP	OMIM:607095
HP:0002938	Lumbar hyperlordosis	6023	RMRP	OMIM:250250
HP:0002938	Lumbar hyperlordosis	57531	HACE1	OMIM:616756
HP:0002938	Lumbar hyperlordosis	9927	MFN2	OMIM:601152
HP:0002938	Lumbar hyperlordosis	81794	ADAMTS10	OMIM:277600
HP:0002938	Lumbar hyperlordosis	1311	COMP	ORPHA:750
HP:0002938	Lumbar hyperlordosis	1311	COMP	OMIM:177170
HP:0002938	Lumbar hyperlordosis	6445	SGCG	ORPHA:353
HP:0002938	Lumbar hyperlordosis	10585	POMT1	OMIM:609308
HP:0002938	Lumbar hyperlordosis	10585	POMT1	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	10585	POMT1	ORPHA:86812
HP:0002938	Lumbar hyperlordosis	4882	NPR2	OMIM:602875
HP:0002938	Lumbar hyperlordosis	84265	POLR3GL	OMIM:619234
HP:0002938	Lumbar hyperlordosis	55697	VAC14	OMIM:617054
HP:0002938	Lumbar hyperlordosis	8260	NAA10	OMIM:309800
HP:0002938	Lumbar hyperlordosis	54880	BCOR	OMIM:309800
HP:0002938	Lumbar hyperlordosis	85301	COL27A1	OMIM:615155
HP:0002938	Lumbar hyperlordosis	63895	PIEZO2	OMIM:114300
HP:0002938	Lumbar hyperlordosis	2517	FUCA1	OMIM:230000
HP:0002938	Lumbar hyperlordosis	5593	PRKG2	OMIM:619636
HP:0002938	Lumbar hyperlordosis	4796	TONSL	ORPHA:93357
HP:0002938	Lumbar hyperlordosis	4796	TONSL	OMIM:271510
HP:0002938	Lumbar hyperlordosis	145258	GSC	OMIM:602471
HP:0002938	Lumbar hyperlordosis	79147	FKRP	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	29954	POMT2	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	84197	POMK	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	55624	POMGNT1	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	2200	FBN1	OMIM:608328
HP:0002938	Lumbar hyperlordosis	1836	SLC26A2	OMIM:222600
HP:0002938	Lumbar hyperlordosis	1836	SLC26A2	OMIM:256050
HP:0002938	Lumbar hyperlordosis	6857	SYT1	ORPHA:522077
HP:0002938	Lumbar hyperlordosis	6473	SHOX	OMIM:249700
HP:0002938	Lumbar hyperlordosis	83737	ITCH	OMIM:613385
HP:0002938	Lumbar hyperlordosis	50485	SMARCAL1	ORPHA:1830
HP:0002938	Lumbar hyperlordosis	50485	SMARCAL1	OMIM:242900
HP:0002938	Lumbar hyperlordosis	23529	CLCF1	OMIM:610313
HP:0002938	Lumbar hyperlordosis	9968	MED12	OMIM:305450
HP:0002938	Lumbar hyperlordosis	1303	COL12A1	ORPHA:610
HP:0002938	Lumbar hyperlordosis	1291	COL6A1	ORPHA:610
HP:0002938	Lumbar hyperlordosis	1293	COL6A3	ORPHA:610
HP:0002938	Lumbar hyperlordosis	50515	CHST11	OMIM:618167
HP:0002938	Lumbar hyperlordosis	339855	KY	OMIM:617114
HP:0002938	Lumbar hyperlordosis	6651	SON	ORPHA:500150
HP:0002938	Lumbar hyperlordosis	1073	CFL2	OMIM:610687
HP:0002938	Lumbar hyperlordosis	3339	HSPG2	OMIM:255800
HP:0002938	Lumbar hyperlordosis	257	ALX3	ORPHA:391474
HP:0002938	Lumbar hyperlordosis	6261	RYR1	OMIM:619542
HP:0002938	Lumbar hyperlordosis	3991	LIPE	OMIM:615980
HP:0002938	Lumbar hyperlordosis	5339	PLEC	OMIM:613723
HP:0002938	Lumbar hyperlordosis	1756	DMD	ORPHA:206546
HP:0002942	Thoracic kyphosis	54808	DYM	OMIM:223800
HP:0002942	Thoracic kyphosis	22827	PUF60	ORPHA:508498
HP:0002942	Thoracic kyphosis	6399	TRAPPC2	ORPHA:93284
HP:0002942	Thoracic kyphosis	4784	NFIX	OMIM:602535
HP:0002942	Thoracic kyphosis	65082	VPS33A	ORPHA:505248
HP:0002942	Thoracic kyphosis	9131	AIFM1	OMIM:300232
HP:0002942	Thoracic kyphosis	4677	NARS1	OMIM:619092
HP:0002942	Thoracic kyphosis	339855	KY	OMIM:617114
HP:0002942	Thoracic kyphosis	5286	PIK3C2A	OMIM:618440
HP:0002942	Thoracic kyphosis	5286	PIK3C2A	ORPHA:557003
HP:0002942	Thoracic kyphosis	124997	WDR81	OMIM:610185
HP:0002942	Thoracic kyphosis	1593	CYP27A1	ORPHA:909
HP:0002942	Thoracic kyphosis	5593	PRKG2	OMIM:619638
HP:0002942	Thoracic kyphosis	29123	ANKRD11	ORPHA:2332
HP:0002942	Thoracic kyphosis	29123	ANKRD11	OMIM:148050
HP:0002942	Thoracic kyphosis	404672	GTF2H5	ORPHA:33364
HP:0002942	Thoracic kyphosis	833	CARS1	ORPHA:33364
HP:0002942	Thoracic kyphosis	2068	ERCC2	ORPHA:33364
HP:0002942	Thoracic kyphosis	7737	RNF113A	ORPHA:33364
HP:0002942	Thoracic kyphosis	136647	MPLKIP	ORPHA:33364
HP:0002942	Thoracic kyphosis	6897	TARS1	ORPHA:33364
HP:0002942	Thoracic kyphosis	2071	ERCC3	ORPHA:33364
HP:0002942	Thoracic kyphosis	2961	GTF2E2	ORPHA:33364
HP:0002942	Thoracic kyphosis	59341	TRPV4	ORPHA:93314
HP:0002942	Thoracic kyphosis	79583	TMEM231	ORPHA:2752
HP:0002942	Thoracic kyphosis	4796	TONSL	OMIM:271510
HP:0002942	Thoracic kyphosis	224	ALDH3A2	OMIM:270200
HP:0002942	Thoracic kyphosis	23133	PHF8	OMIM:300263
HP:0002942	Thoracic kyphosis	6261	RYR1	OMIM:619542
HP:0002942	Thoracic kyphosis	164	AP1G1	OMIM:619467
HP:0002942	Thoracic kyphosis	6023	RMRP	OMIM:607095
HP:0002942	Thoracic kyphosis	64132	XYLT2	ORPHA:85194
HP:0002942	Thoracic kyphosis	50485	SMARCAL1	OMIM:242900
HP:0002942	Thoracic kyphosis	79644	SRD5A3	OMIM:612713
HP:0002942	Thoracic kyphosis	1756	DMD	ORPHA:206546
HP:0002942	Thoracic kyphosis	8838	CCN6	ORPHA:1159
HP:0002942	Thoracic kyphosis	1836	SLC26A2	ORPHA:56304
HP:0002942	Thoracic kyphosis	1009	CDH11	ORPHA:1299
HP:0002942	Thoracic kyphosis	25871	NEPRO	OMIM:618853
HP:0002942	Thoracic kyphosis	10940	POP1	OMIM:617396
HP:0002942	Thoracic kyphosis	4247	MGAT2	OMIM:212066
HP:0002942	Thoracic kyphosis	8022	LHX3	ORPHA:231720
HP:0002942	Thoracic kyphosis	79158	GNPTAB	OMIM:252500
HP:0002942	Thoracic kyphosis	4882	NPR2	OMIM:602875
HP:0002942	Thoracic kyphosis	139285	AMER1	OMIM:300373
HP:0002942	Thoracic kyphosis	2137	EXTL3	ORPHA:508533
HP:0002942	Thoracic kyphosis	2137	EXTL3	OMIM:617425
HP:0002942	Thoracic kyphosis	2317	FLNB	ORPHA:56305
HP:0002942	Thoracic kyphosis	2261	FGFR3	ORPHA:15
HP:0002942	Thoracic kyphosis	3835	KIF22	ORPHA:93360
HP:0002942	Thoracic kyphosis	116931	MED12L	OMIM:618872
HP:0002942	Thoracic kyphosis	1280	COL2A1	OMIM:151210
HP:0002942	Thoracic kyphosis	2629	GBA1	ORPHA:2072
HP:0002942	Thoracic kyphosis	4125	MAN2B1	OMIM:248500
HP:0002942	Thoracic kyphosis	2990	GUSB	OMIM:253220
HP:0002942	Thoracic kyphosis	23219	FBXO28	OMIM:619777
HP:0002942	Thoracic kyphosis	3930	LBR	OMIM:618019
HP:0002942	Thoracic kyphosis	2720	GLB1	OMIM:230600
HP:0002943	Thoracic scoliosis	22827	PUF60	ORPHA:508498
HP:0002943	Thoracic scoliosis	22827	PUF60	ORPHA:508488
HP:0002943	Thoracic scoliosis	5296	PIK3R2	OMIM:603387
HP:0002943	Thoracic scoliosis	7840	ALMS1	ORPHA:64
HP:0002943	Thoracic scoliosis	4784	NFIX	OMIM:602535
HP:0002943	Thoracic scoliosis	91574	MTRFR	ORPHA:254930
HP:0002943	Thoracic scoliosis	3094	HINT1	ORPHA:324442
HP:0002943	Thoracic scoliosis	84665	MYPN	ORPHA:171881
HP:0002943	Thoracic scoliosis	7169	TPM2	ORPHA:171881
HP:0002943	Thoracic scoliosis	7170	TPM3	ORPHA:171881
HP:0002943	Thoracic scoliosis	165	AEBP1	OMIM:618000
HP:0002943	Thoracic scoliosis	165	AEBP1	ORPHA:536532
HP:0002943	Thoracic scoliosis	124997	WDR81	OMIM:610185
HP:0002943	Thoracic scoliosis	10381	TUBB3	ORPHA:300570
HP:0002943	Thoracic scoliosis	5593	PRKG2	OMIM:619636
HP:0002943	Thoracic scoliosis	4625	MYH7	OMIM:255160
HP:0002943	Thoracic scoliosis	1280	COL2A1	ORPHA:166011
HP:0002943	Thoracic scoliosis	7841	MOGS	OMIM:606056
HP:0002943	Thoracic scoliosis	7841	MOGS	ORPHA:79330
HP:0002943	Thoracic scoliosis	6442	SGCA	ORPHA:62
HP:0002943	Thoracic scoliosis	5351	PLOD1	ORPHA:1900
HP:0002943	Thoracic scoliosis	8085	KMT2D	OMIM:620186
HP:0002943	Thoracic scoliosis	157680	VPS13B	OMIM:216550
HP:0002943	Thoracic scoliosis	10613	ERLIN1	ORPHA:401785
HP:0002943	Thoracic scoliosis	10613	ERLIN1	OMIM:615681
HP:0002943	Thoracic scoliosis	6910	TBX5	OMIM:142900
HP:0002943	Thoracic scoliosis	10733	PLK4	OMIM:616171
HP:0002943	Thoracic scoliosis	91754	NEK9	OMIM:617022
HP:0002943	Thoracic scoliosis	55969	RAB5IF	OMIM:616994
HP:0002943	Thoracic scoliosis	6662	SOX9	OMIM:114290
HP:0002943	Thoracic scoliosis	25782	RAB3GAP2	OMIM:212720
HP:0002943	Thoracic scoliosis	9573	GDF3	OMIM:613702
HP:0002943	Thoracic scoliosis	9531	BAG3	OMIM:612954
HP:0002943	Thoracic scoliosis	1756	DMD	ORPHA:206546
HP:0002943	Thoracic scoliosis	871	SERPINH1	OMIM:613848
HP:0002943	Thoracic scoliosis	5830	PEX5	OMIM:616716
HP:0002943	Thoracic scoliosis	2799	GNS	OMIM:252940
HP:0002943	Thoracic scoliosis	9382	COG1	OMIM:611209
HP:0002943	Thoracic scoliosis	5932	RBBP8	OMIM:251255
HP:0002943	Thoracic scoliosis	6660	SOX5	ORPHA:313892
HP:0002943	Thoracic scoliosis	7703	PCGF2	OMIM:618371
HP:0002943	Thoracic scoliosis	83932	SPRTN	OMIM:616200
HP:0002943	Thoracic scoliosis	579	NKX3-2	OMIM:613330
HP:0002943	Thoracic scoliosis	83737	ITCH	OMIM:613385
HP:0002943	Thoracic scoliosis	1674	DES	ORPHA:98909
HP:0002943	Thoracic scoliosis	4000	LMNA	ORPHA:1662
HP:0002943	Thoracic scoliosis	10269	ZMPSTE24	ORPHA:1662
HP:0002943	Thoracic scoliosis	55699	IARS2	ORPHA:436174
HP:0002943	Thoracic scoliosis	57211	ADGRG6	OMIM:616503
HP:0002943	Thoracic scoliosis	29920	PYCR2	ORPHA:481152
HP:0002943	Thoracic scoliosis	6329	SCN4A	ORPHA:98913
HP:0002943	Thoracic scoliosis	1134	CHRNA1	ORPHA:98913
HP:0002943	Thoracic scoliosis	4038	LRP4	ORPHA:98913
HP:0002943	Thoracic scoliosis	1305	COL13A1	ORPHA:98913
HP:0002943	Thoracic scoliosis	1140	CHRNB1	ORPHA:98913
HP:0002943	Thoracic scoliosis	1144	CHRND	ORPHA:98913
HP:0002943	Thoracic scoliosis	1145	CHRNE	ORPHA:98913
HP:0002943	Thoracic scoliosis	4593	MUSK	ORPHA:98913
HP:0002943	Thoracic scoliosis	5913	RAPSN	ORPHA:98913
HP:0002943	Thoracic scoliosis	375790	AGRN	ORPHA:98913
HP:0002943	Thoracic scoliosis	221264	AK9	ORPHA:98913
HP:0002943	Thoracic scoliosis	285489	DOK7	ORPHA:98913
HP:0002944	Thoracolumbar scoliosis	3476	IGBP1	OMIM:300472
HP:0002944	Thoracolumbar scoliosis	9968	MED12	OMIM:301068
HP:0002944	Thoracolumbar scoliosis	4920	ROR2	OMIM:268310
HP:0002944	Thoracolumbar scoliosis	4920	ROR2	OMIM:113000
HP:0002944	Thoracolumbar scoliosis	1146	CHRNG	OMIM:265000
HP:0002944	Thoracolumbar scoliosis	23162	MAPK8IP3	OMIM:618443
HP:0002944	Thoracolumbar scoliosis	3190	HNRNPK	OMIM:616580
HP:0002944	Thoracolumbar scoliosis	63895	PIEZO2	OMIM:114300
HP:0002944	Thoracolumbar scoliosis	89970	RSPRY1	ORPHA:457395
HP:0002944	Thoracolumbar scoliosis	89970	RSPRY1	OMIM:616723
HP:0002944	Thoracolumbar scoliosis	8239	USP9X	ORPHA:480880
HP:0002944	Thoracolumbar scoliosis	3572	IL6ST	OMIM:618523
HP:0002944	Thoracolumbar scoliosis	84700	MYO18B	OMIM:616549
HP:0002944	Thoracolumbar scoliosis	1292	COL6A2	OMIM:255600
HP:0002944	Thoracolumbar scoliosis	5159	PDGFRB	OMIM:616592
HP:0002944	Thoracolumbar scoliosis	1278	COL1A2	ORPHA:230851
HP:0002944	Thoracolumbar scoliosis	169792	GLIS3	OMIM:610199
HP:0002944	Thoracolumbar scoliosis	2783	GNB2	OMIM:619503
HP:0002944	Thoracolumbar scoliosis	3930	LBR	OMIM:618019
HP:0002944	Thoracolumbar scoliosis	23529	CLCF1	OMIM:610313
HP:0002944	Thoracolumbar scoliosis	64221	ROBO3	OMIM:607313
HP:0002944	Thoracolumbar scoliosis	8838	CCN6	ORPHA:1159
HP:0002944	Thoracolumbar scoliosis	1836	SLC26A2	ORPHA:56304
HP:0002944	Thoracolumbar scoliosis	1009	CDH11	ORPHA:1299
HP:0002944	Thoracolumbar scoliosis	25871	NEPRO	OMIM:618853
HP:0002944	Thoracolumbar scoliosis	10940	POP1	OMIM:617396
HP:0002944	Thoracolumbar scoliosis	4247	MGAT2	OMIM:212066
HP:0002944	Thoracolumbar scoliosis	8022	LHX3	ORPHA:231720
HP:0002944	Thoracolumbar scoliosis	79158	GNPTAB	OMIM:252500
HP:0002944	Thoracolumbar scoliosis	1280	COL2A1	OMIM:156550
HP:0002944	Thoracolumbar scoliosis	10533	ATG7	OMIM:619422
HP:0002944	Thoracolumbar scoliosis	9361	LONP1	OMIM:600373
HP:0002944	Thoracolumbar scoliosis	10733	PLK4	OMIM:616171
HP:0002944	Thoracolumbar scoliosis	7840	ALMS1	ORPHA:64
HP:0002944	Thoracolumbar scoliosis	6134	RPL10	OMIM:300998
HP:0002944	Thoracolumbar scoliosis	55870	ASH1L	OMIM:617796
HP:0002944	Thoracolumbar scoliosis	51199	NIN	OMIM:614851
HP:0002944	Thoracolumbar scoliosis	51199	NIN	ORPHA:319675
HP:0002944	Thoracolumbar scoliosis	164	AP1G1	OMIM:619548
HP:0002944	Thoracolumbar scoliosis	347734	SLC35B2	OMIM:620269
HP:0002944	Thoracolumbar scoliosis	9060	PAPSS2	OMIM:612847
HP:0002944	Thoracolumbar scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0002944	Thoracolumbar scoliosis	57465	TBC1D24	ORPHA:79500
HP:0002944	Thoracolumbar scoliosis	3373	HYAL1	OMIM:601492
HP:0002944	Thoracolumbar scoliosis	3417	IDH1	ORPHA:99646
HP:0002945	Intervertebral space narrowing	9469	CHST3	OMIM:143095
HP:0002945	Intervertebral space narrowing	9469	CHST3	ORPHA:263463
HP:0002945	Intervertebral space narrowing	2335	FN1	ORPHA:93315
HP:0002945	Intervertebral space narrowing	1280	COL2A1	ORPHA:93315
HP:0002945	Intervertebral space narrowing	1280	COL2A1	OMIM:609162
HP:0002945	Intervertebral space narrowing	1280	COL2A1	ORPHA:166011
HP:0002945	Intervertebral space narrowing	6399	TRAPPC2	ORPHA:93284
HP:0002945	Intervertebral space narrowing	4054	LTBP3	OMIM:601216
HP:0002945	Intervertebral space narrowing	54928	BPNT2	OMIM:614078
HP:0002945	Intervertebral space narrowing	4509	MT-ATP8	ORPHA:480
HP:0002945	Intervertebral space narrowing	4567	MT-TL1	ORPHA:480
HP:0002945	Intervertebral space narrowing	50484	RRM2B	ORPHA:480
HP:0002946	Supernumerary vertebrae	5077	PAX3	OMIM:193500
HP:0002946	Supernumerary vertebrae	1723	DHODH	OMIM:263750
HP:0002946	Supernumerary vertebrae	2719	GPC3	OMIM:312870
HP:0002946	Supernumerary vertebrae	2239	GPC4	OMIM:312870
HP:0002946	Supernumerary vertebrae	10220	GDF11	OMIM:619122
HP:0002947	Cervical kyphosis	1836	SLC26A2	ORPHA:56304
HP:0002947	Cervical kyphosis	1836	SLC26A2	OMIM:256050
HP:0002947	Cervical kyphosis	1836	SLC26A2	OMIM:222600
HP:0002947	Cervical kyphosis	1836	SLC26A2	ORPHA:93307
HP:0002947	Cervical kyphosis	2317	FLNB	OMIM:150250
HP:0002947	Cervical kyphosis	2317	FLNB	OMIM:108721
HP:0002947	Cervical kyphosis	64412	GZF1	OMIM:617662
HP:0002947	Cervical kyphosis	113189	CHST14	ORPHA:2953
HP:0002947	Cervical kyphosis	29940	DSE	ORPHA:2953
HP:0002947	Cervical kyphosis	134701	RIPPLY2	OMIM:616566
HP:0002947	Cervical kyphosis	6662	SOX9	OMIM:114290
HP:0002947	Cervical kyphosis	3339	HSPG2	OMIM:255800
HP:0002947	Cervical kyphosis	415	ARSL	ORPHA:79345
HP:0002949	Fused cervical vertebrae	22827	PUF60	ORPHA:508498
HP:0002949	Fused cervical vertebrae	1146	CHRNG	OMIM:265000
HP:0002949	Fused cervical vertebrae	5888	RAD51	ORPHA:238722
HP:0002949	Fused cervical vertebrae	10126	DNAL4	ORPHA:238722
HP:0002949	Fused cervical vertebrae	9423	NTN1	ORPHA:238722
HP:0002949	Fused cervical vertebrae	1630	DCC	ORPHA:238722
HP:0002949	Fused cervical vertebrae	2316	FLNA	OMIM:305620
HP:0002949	Fused cervical vertebrae	2316	FLNA	ORPHA:1826
HP:0002949	Fused cervical vertebrae	5167	ENPP1	ORPHA:51608
HP:0002949	Fused cervical vertebrae	368	ABCC6	ORPHA:51608
HP:0002949	Fused cervical vertebrae	22943	DKK1	ORPHA:268882
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	OMIM:617137
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	ORPHA:1826
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	OMIM:157800
HP:0002949	Fused cervical vertebrae	1108	CHD4	OMIM:617159
HP:0002949	Fused cervical vertebrae	4621	MYH3	OMIM:618469
HP:0002949	Fused cervical vertebrae	9939	RBM8A	ORPHA:3320
HP:0002949	Fused cervical vertebrae	9939	RBM8A	OMIM:274000
HP:0002949	Fused cervical vertebrae	57167	SALL4	OMIM:607323
HP:0002949	Fused cervical vertebrae	2317	FLNB	OMIM:108720
HP:0002949	Fused cervical vertebrae	1280	COL2A1	ORPHA:485
HP:0002949	Fused cervical vertebrae	9241	NOG	OMIM:184460
HP:0002949	Fused cervical vertebrae	55215	FANCI	OMIM:609053
HP:0002949	Fused cervical vertebrae	3557	IL1RN	OMIM:612852
HP:0002949	Fused cervical vertebrae	51729	WBP11	OMIM:619227
HP:0002949	Fused cervical vertebrae	4222	MEOX1	OMIM:214300
HP:0002949	Fused cervical vertebrae	55252	ASXL2	OMIM:617190
HP:0002949	Fused cervical vertebrae	27125	AFF4	ORPHA:444077
HP:0002949	Fused cervical vertebrae	27125	AFF4	OMIM:616368
HP:0002949	Fused cervical vertebrae	392255	GDF6	OMIM:118100
HP:0002949	Fused cervical vertebrae	392255	GDF6	ORPHA:2345
HP:0002949	Fused cervical vertebrae	55870	ASH1L	OMIM:617796
HP:0002949	Fused cervical vertebrae	7862	BRPF1	OMIM:617333
HP:0002949	Fused cervical vertebrae	165	AEBP1	OMIM:618000
HP:0002949	Fused cervical vertebrae	84700	MYO18B	OMIM:616549
HP:0002949	Fused cervical vertebrae	1009	CDH11	OMIM:211380
HP:0002949	Fused cervical vertebrae	2263	FGFR2	ORPHA:87
HP:0002949	Fused cervical vertebrae	2263	FGFR2	OMIM:101200
HP:0002949	Fused cervical vertebrae	90	ACVR1	OMIM:135100
HP:0002949	Fused cervical vertebrae	9573	GDF3	OMIM:613702
HP:0002951	Partial absence of cerebellar vermis	55690	PACS1	ORPHA:329224
HP:0002951	Partial absence of cerebellar vermis	4983	OPHN1	ORPHA:137831
HP:0002951	Partial absence of cerebellar vermis	23556	PIGN	ORPHA:280633
HP:0002951	Partial absence of cerebellar vermis	23007	PLCH1	OMIM:619895
HP:0002951	Partial absence of cerebellar vermis	29954	POMT2	OMIM:613150
HP:0004586	Biconcave vertebral bodies	1277	COL1A1	OMIM:166220
HP:0004586	Biconcave vertebral bodies	1277	COL1A1	OMIM:166200
HP:0004586	Biconcave vertebral bodies	1278	COL1A2	OMIM:166220
HP:0004586	Biconcave vertebral bodies	64802	NMNAT1	OMIM:619260
HP:0004586	Biconcave vertebral bodies	51360	MBTPS2	OMIM:301014
HP:0004586	Biconcave vertebral bodies	6399	TRAPPC2	ORPHA:93284
HP:0004586	Biconcave vertebral bodies	4854	NOTCH3	OMIM:130720
HP:0004586	Biconcave vertebral bodies	5176	SERPINF1	OMIM:613982
HP:0004586	Biconcave vertebral bodies	2335	FN1	ORPHA:93315
HP:0004586	Biconcave vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0004586	Biconcave vertebral bodies	1280	COL2A1	ORPHA:166011
HP:0004586	Biconcave vertebral bodies	55603	TENT5A	OMIM:617952
HP:0004586	Biconcave vertebral bodies	4853	NOTCH2	OMIM:102500
HP:0004586	Biconcave vertebral bodies	4853	NOTCH2	ORPHA:955
HP:0004586	Biconcave vertebral bodies	92344	GORAB	ORPHA:2078
HP:0004586	Biconcave vertebral bodies	92344	GORAB	OMIM:231070
HP:0004586	Biconcave vertebral bodies	5831	PYCR1	ORPHA:2078
HP:0004586	Biconcave vertebral bodies	9049	AIP	OMIM:219090
HP:0004586	Biconcave vertebral bodies	9101	USP8	OMIM:219090
HP:0004586	Biconcave vertebral bodies	875	CBS	OMIM:236200
HP:0004586	Biconcave vertebral bodies	3425	IDUA	OMIM:607014
HP:0004586	Biconcave vertebral bodies	4041	LRP5	OMIM:259770
HP:0004586	Biconcave vertebral bodies	4796	TONSL	ORPHA:93357
HP:0004586	Biconcave vertebral bodies	4796	TONSL	OMIM:271510
HP:0004586	Biconcave vertebral bodies	387733	IFITM5	OMIM:610967
HP:0004586	Biconcave vertebral bodies	60681	FKBP10	OMIM:610968
HP:0004586	Biconcave vertebral bodies	54187	NANS	OMIM:610442
HP:0004586	Biconcave vertebral bodies	26137	ZBTB20	OMIM:259050
HP:0004586	Biconcave vertebral bodies	26137	ZBTB20	ORPHA:3042
HP:0004586	Biconcave vertebral bodies	3835	KIF22	OMIM:603546
HP:0004586	Biconcave vertebral bodies	153642	ARSK	OMIM:619698
HP:0002953	Vertebral compression fracture	64132	XYLT2	OMIM:605822
HP:0002953	Vertebral compression fracture	65992	DDRGK1	OMIM:602557
HP:0002953	Vertebral compression fracture	65992	DDRGK1	ORPHA:93352
HP:0002953	Vertebral compression fracture	84196	USP48	ORPHA:96253
HP:0002953	Vertebral compression fracture	7157	TP53	ORPHA:96253
HP:0002953	Vertebral compression fracture	9101	USP8	ORPHA:96253
HP:0002953	Vertebral compression fracture	9101	USP8	OMIM:219090
HP:0002953	Vertebral compression fracture	64072	CDH23	ORPHA:96253
HP:0002953	Vertebral compression fracture	2908	NR3C1	ORPHA:96253
HP:0002953	Vertebral compression fracture	673	BRAF	ORPHA:96253
HP:0002953	Vertebral compression fracture	546	ATRX	ORPHA:96253
HP:0002953	Vertebral compression fracture	595	CCND1	ORPHA:29073
HP:0002953	Vertebral compression fracture	7390	UROS	OMIM:263700
HP:0002953	Vertebral compression fracture	5034	P4HB	OMIM:112240
HP:0002953	Vertebral compression fracture	55603	TENT5A	OMIM:617952
HP:0002953	Vertebral compression fracture	10491	CRTAP	OMIM:610682
HP:0002953	Vertebral compression fracture	4853	NOTCH2	OMIM:102500
HP:0002953	Vertebral compression fracture	6611	SMS	OMIM:309583
HP:0002953	Vertebral compression fracture	23184	MESD	OMIM:618644
HP:0002953	Vertebral compression fracture	92344	GORAB	ORPHA:2078
HP:0002953	Vertebral compression fracture	92344	GORAB	OMIM:231070
HP:0002953	Vertebral compression fracture	5831	PYCR1	ORPHA:2078
HP:0002953	Vertebral compression fracture	90993	CREB3L1	OMIM:616229
HP:0002953	Vertebral compression fracture	6678	SPARC	OMIM:616507
HP:0002953	Vertebral compression fracture	60681	FKBP10	OMIM:610968
HP:0002953	Vertebral compression fracture	4313	MMP2	OMIM:259600
HP:0002953	Vertebral compression fracture	2629	GBA1	OMIM:230800
HP:0002953	Vertebral compression fracture	2629	GBA1	ORPHA:77259
HP:0002953	Vertebral compression fracture	5176	SERPINF1	OMIM:613982
HP:0002953	Vertebral compression fracture	8792	TNFRSF11A	OMIM:602080
HP:0002953	Vertebral compression fracture	7471	WNT1	ORPHA:85193
HP:0002953	Vertebral compression fracture	22943	DKK1	ORPHA:85193
HP:0002953	Vertebral compression fracture	89780	WNT3A	ORPHA:85193
HP:0002953	Vertebral compression fracture	9049	AIP	OMIM:219090
HP:0002953	Vertebral compression fracture	4041	LRP5	OMIM:259770
HP:0002953	Vertebral compression fracture	871	SERPINH1	OMIM:613848
HP:0002953	Vertebral compression fracture	4773	NFATC2	OMIM:620232
HP:0002953	Vertebral compression fracture	950	SCARB2	ORPHA:77259
HP:0002953	Vertebral compression fracture	134218	DNAJC21	ORPHA:811
HP:0002953	Vertebral compression fracture	79631	EFL1	ORPHA:811
HP:0002953	Vertebral compression fracture	51119	SBDS	ORPHA:811
HP:0002953	Vertebral compression fracture	6729	SRP54	ORPHA:811
HP:0002953	Vertebral compression fracture	64175	P3H1	OMIM:610915
HP:0002955	Granulomatosis	4688	NCF2	OMIM:233710
HP:0002955	Granulomatosis	1536	CYBB	OMIM:306400
HP:0002955	Granulomatosis	653361	NCF1	OMIM:233700
HP:0002955	Granulomatosis	1535	CYBA	OMIM:233690
HP:0002955	Granulomatosis	1493	CTLA4	ORPHA:900
HP:0002955	Granulomatosis	26191	PTPN22	ORPHA:900
HP:0002955	Granulomatosis	3115	HLA-DPB1	ORPHA:900
HP:0002955	Granulomatosis	5657	PRTN3	ORPHA:900
HP:0002955	Granulomatosis	3113	HLA-DPA1	ORPHA:900
HP:0002955	Granulomatosis	427	ASAH1	OMIM:228000
HP:0010976	B lymphocytopenia	100	ADA	OMIM:102700
HP:0010976	B lymphocytopenia	64421	DCLRE1C	OMIM:603554
HP:0010976	B lymphocytopenia	5896	RAG1	OMIM:603554
HP:0010976	B lymphocytopenia	5897	RAG2	OMIM:603554
HP:0010976	B lymphocytopenia	5557	PRIM1	OMIM:620005
HP:0010976	B lymphocytopenia	4791	NFKB2	ORPHA:293978
HP:0010976	B lymphocytopenia	6772	STAT1	ORPHA:391487
HP:0010976	B lymphocytopenia	10043	TOM1	ORPHA:391487
HP:0010976	B lymphocytopenia	55388	MCM10	OMIM:619313
HP:0010976	B lymphocytopenia	51095	TRNT1	OMIM:616084
HP:0010976	B lymphocytopenia	4683	NBN	OMIM:251260
HP:0010976	B lymphocytopenia	5295	PIK3R1	OMIM:616005
HP:0010976	B lymphocytopenia	9841	ZBTB24	OMIM:614069
HP:0010976	B lymphocytopenia	5880	RAC2	OMIM:618986
HP:0010976	B lymphocytopenia	5880	RAC2	OMIM:618987
HP:0010976	B lymphocytopenia	22806	IKZF3	OMIM:619437
HP:0010976	B lymphocytopenia	987	LRBA	OMIM:614700
HP:0010976	B lymphocytopenia	8737	RIPK1	OMIM:618108
HP:0010976	B lymphocytopenia	8517	IKBKG	OMIM:301081
HP:0010976	B lymphocytopenia	54440	SASH3	OMIM:301082
HP:0010976	B lymphocytopenia	9094	UNC119	OMIM:615518
HP:0010976	B lymphocytopenia	5293	PIK3CD	ORPHA:221139
HP:0010976	B lymphocytopenia	5293	PIK3CD	OMIM:619281
HP:0010976	B lymphocytopenia	90417	KNSTRN	ORPHA:221139
HP:0010976	B lymphocytopenia	3507	IGHM	OMIM:601495
HP:0010976	B lymphocytopenia	114803	MYSM1	ORPHA:508542
HP:0010976	B lymphocytopenia	9948	WDR1	OMIM:150550
HP:0010976	B lymphocytopenia	23149	FCHO1	OMIM:619164
HP:0010976	B lymphocytopenia	974	CD79B	OMIM:612692
HP:0010976	B lymphocytopenia	5788	PTPRC	OMIM:619924
HP:0010976	B lymphocytopenia	5591	PRKDC	OMIM:615966
HP:0010976	B lymphocytopenia	2672	GFI1	OMIM:613107
HP:0010976	B lymphocytopenia	3718	JAK3	ORPHA:35078
HP:0010976	B lymphocytopenia	79840	NHEJ1	ORPHA:169079
HP:0010976	B lymphocytopenia	29851	ICOS	OMIM:607594
HP:0010976	B lymphocytopenia	5966	REL	OMIM:619652
HP:0010976	B lymphocytopenia	23250	ATP11A	OMIM:619851
HP:0010976	B lymphocytopenia	51371	POMP	OMIM:618048
HP:0010976	B lymphocytopenia	4615	MYD88	OMIM:612260
HP:0010976	B lymphocytopenia	6929	TCF3	OMIM:616941
HP:0010976	B lymphocytopenia	6929	TCF3	OMIM:619824
HP:0010976	B lymphocytopenia	10625	IVNS1ABP	OMIM:618969
HP:0010976	B lymphocytopenia	79087	ALG12	ORPHA:79324
HP:0010976	B lymphocytopenia	51311	TLR8	OMIM:301078
HP:0010976	B lymphocytopenia	6850	SYK	OMIM:619381
HP:0010976	B lymphocytopenia	2624	GATA2	OMIM:614172
HP:0010976	B lymphocytopenia	567	B2M	OMIM:241600
HP:0010976	B lymphocytopenia	10320	IKZF1	OMIM:616873
HP:0010976	B lymphocytopenia	9138	ARHGEF1	OMIM:618459
HP:0010976	B lymphocytopenia	64858	DCLRE1B	OMIM:620133
HP:0010976	B lymphocytopenia	3559	IL2RA	OMIM:606367
HP:0010976	B lymphocytopenia	81704	DOCK8	ORPHA:217390
HP:0010976	B lymphocytopenia	96459	FNIP1	OMIM:619705
HP:0010976	B lymphocytopenia	6688	SPI1	OMIM:619707
HP:0010976	B lymphocytopenia	973	CD79A	OMIM:613501
HP:0010976	B lymphocytopenia	3543	IGLL1	OMIM:613500
HP:0010976	B lymphocytopenia	695	BTK	OMIM:307200
HP:0010976	B lymphocytopenia	7922	SLC39A7	OMIM:619693
HP:0002958	Immune dysregulation	27040	LAT	OMIM:617514
HP:0002958	Immune dysregulation	5551	PRF1	ORPHA:540
HP:0002958	Immune dysregulation	8676	STX11	ORPHA:540
HP:0002958	Immune dysregulation	201294	UNC13D	ORPHA:540
HP:0002958	Immune dysregulation	6813	STXBP2	ORPHA:540
HP:0002958	Immune dysregulation	5336	PLCG2	OMIM:614878
HP:0002958	Immune dysregulation	3953	LEPR	OMIM:614963
HP:0002958	Immune dysregulation	6772	STAT1	ORPHA:391487
HP:0002958	Immune dysregulation	6772	STAT1	OMIM:614162
HP:0002958	Immune dysregulation	10043	TOM1	ORPHA:391487
HP:0002958	Immune dysregulation	54	ACP5	OMIM:607944
HP:0002958	Immune dysregulation	50943	FOXP3	OMIM:304790
HP:0002959	Impaired Ig class switch recombination	57379	AICDA	OMIM:605258
HP:0002959	Impaired Ig class switch recombination	7374	UNG	OMIM:608106
HP:0002959	Impaired Ig class switch recombination	958	CD40	OMIM:606843
HP:0002959	Impaired Ig class switch recombination	959	CD40LG	OMIM:308230
HP:0002960	Autoimmunity	64421	DCLRE1C	ORPHA:275
HP:0002960	Autoimmunity	6909	TBX2	OMIM:618223
HP:0002960	Autoimmunity	10068	IL18BP	OMIM:618549
HP:0002960	Autoimmunity	5297	PI4KA	ORPHA:436252
HP:0002960	Autoimmunity	57217	TTC7A	ORPHA:436252
HP:0002960	Autoimmunity	5336	PLCG2	OMIM:614468
HP:0002960	Autoimmunity	5728	PTEN	ORPHA:109
HP:0002960	Autoimmunity	5428	POLG	ORPHA:94125
HP:0002960	Autoimmunity	27022	FOXD3	OMIM:607836
HP:0002960	Autoimmunity	83737	ITCH	OMIM:613385
HP:0002960	Autoimmunity	716	C1S	OMIM:613783
HP:0002960	Autoimmunity	51816	ADA2	OMIM:615688
HP:0002960	Autoimmunity	10483	SEC23B	OMIM:616858
HP:0002960	Autoimmunity	1027	CDKN1B	OMIM:610755
HP:0002960	Autoimmunity	1188	CLCNKB	ORPHA:358
HP:0002960	Autoimmunity	6559	SLC12A3	ORPHA:358
HP:0002960	Autoimmunity	7454	WAS	OMIM:301000
HP:0002960	Autoimmunity	4683	NBN	OMIM:251260
HP:0002960	Autoimmunity	4683	NBN	ORPHA:647
HP:0002960	Autoimmunity	22861	NLRP1	OMIM:617388
HP:0002960	Autoimmunity	917	CD3G	OMIM:615607
HP:0002960	Autoimmunity	3937	LCP2	OMIM:619374
HP:0002960	Autoimmunity	50619	DEF6	OMIM:619573
HP:0002960	Autoimmunity	919	CD247	OMIM:610163
HP:0002960	Autoimmunity	5897	RAG2	ORPHA:331206
HP:0002960	Autoimmunity	6786	STIM1	OMIM:612783
HP:0002960	Autoimmunity	56984	PSMG2	OMIM:619183
HP:0002960	Autoimmunity	28755	TRAC	OMIM:615387
HP:0002960	Autoimmunity	3560	IL2RB	OMIM:618495
HP:0002960	Autoimmunity	3559	IL2RA	OMIM:606367
HP:0002960	Autoimmunity	5896	RAG1	ORPHA:231154
HP:0002960	Autoimmunity	5294	PIK3CG	OMIM:619802
HP:0002960	Autoimmunity	355	FAS	ORPHA:3261
HP:0002960	Autoimmunity	355	FAS	OMIM:601859
HP:0002960	Autoimmunity	356	FASLG	ORPHA:3261
HP:0002960	Autoimmunity	356	FASLG	OMIM:601859
HP:0002960	Autoimmunity	5580	PRKCD	ORPHA:3261
HP:0002960	Autoimmunity	5580	PRKCD	OMIM:615559
HP:0002960	Autoimmunity	5580	PRKCD	ORPHA:1572
HP:0002960	Autoimmunity	843	CASP10	ORPHA:3261
HP:0002960	Autoimmunity	843	CASP10	OMIM:603909
HP:0002960	Autoimmunity	6772	STAT1	ORPHA:391487
HP:0002960	Autoimmunity	10043	TOM1	ORPHA:391487
HP:0002960	Autoimmunity	3702	ITK	OMIM:613011
HP:0002960	Autoimmunity	975	CD81	OMIM:613496
HP:0002960	Autoimmunity	975	CD81	ORPHA:1572
HP:0002960	Autoimmunity	4860	PNP	OMIM:613179
HP:0002960	Autoimmunity	4860	PNP	ORPHA:760
HP:0002960	Autoimmunity	987	LRBA	OMIM:614700
HP:0002960	Autoimmunity	54440	SASH3	OMIM:301082
HP:0002960	Autoimmunity	7174	TPP2	ORPHA:444463
HP:0002960	Autoimmunity	7174	TPP2	OMIM:619220
HP:0002960	Autoimmunity	3575	IL7R	ORPHA:169154
HP:0002960	Autoimmunity	3845	KRAS	OMIM:614470
HP:0002960	Autoimmunity	4893	NRAS	OMIM:614470
HP:0002960	Autoimmunity	56259	CTNNBL1	OMIM:619846
HP:0002960	Autoimmunity	5994	RFXAP	ORPHA:572
HP:0002960	Autoimmunity	4261	CIITA	ORPHA:572
HP:0002960	Autoimmunity	5993	RFX5	ORPHA:572
HP:0002960	Autoimmunity	8625	RFXANK	ORPHA:572
HP:0002960	Autoimmunity	54	ACP5	OMIM:607944
HP:0002960	Autoimmunity	54	ACP5	ORPHA:1855
HP:0002960	Autoimmunity	6609	SMPD1	ORPHA:77293
HP:0002960	Autoimmunity	84061	MAGT1	OMIM:300853
HP:0002960	Autoimmunity	8651	SOCS1	OMIM:619375
HP:0002960	Autoimmunity	27040	LAT	OMIM:617514
HP:0002960	Autoimmunity	2581	GALC	OMIM:245200
HP:0002960	Autoimmunity	23495	TNFRSF13B	ORPHA:1572
HP:0002960	Autoimmunity	4790	NFKB1	ORPHA:1572
HP:0002960	Autoimmunity	115650	TNFRSF13C	ORPHA:1572
HP:0002960	Autoimmunity	1380	CR2	ORPHA:1572
HP:0002960	Autoimmunity	8742	TNFSF12	ORPHA:1572
HP:0002960	Autoimmunity	930	CD19	ORPHA:1572
HP:0002960	Autoimmunity	29851	ICOS	ORPHA:1572
HP:0002960	Autoimmunity	931	MS4A1	ORPHA:1572
HP:0002960	Autoimmunity	359948	IRF2BP2	ORPHA:1572
HP:0002960	Autoimmunity	9138	ARHGEF1	OMIM:618459
HP:0002960	Autoimmunity	7535	ZAP70	ORPHA:911
HP:0002960	Autoimmunity	8085	KMT2D	OMIM:147920
HP:0002960	Autoimmunity	7403	KDM6A	OMIM:147920
HP:0002960	Autoimmunity	720	C4A	OMIM:614380
HP:0002960	Autoimmunity	731	C8A	OMIM:613790
HP:0002960	Autoimmunity	10747	MASP2	OMIM:613791
HP:0002960	Autoimmunity	718	C3	OMIM:613779
HP:0002960	Autoimmunity	717	C2	OMIM:217000
HP:0002960	Autoimmunity	1080	CFTR	ORPHA:498359
HP:0002960	Autoimmunity	51428	DDX41	OMIM:616871
HP:0002960	Autoimmunity	5184	PEPD	OMIM:170100
HP:0002960	Autoimmunity	10501	SEMA6B	OMIM:618876
HP:0002960	Autoimmunity	29775	CARD10	OMIM:619632
HP:0002960	Autoimmunity	8737	RIPK1	OMIM:618852
HP:0002960	Autoimmunity	8838	CCN6	ORPHA:1159
HP:0002960	Autoimmunity	79415	CYBC1	OMIM:618935
HP:0002960	Autoimmunity	3459	IFNGR1	OMIM:209950
HP:0002960	Autoimmunity	5238	PGM3	ORPHA:443811
HP:0002960	Autoimmunity	5238	PGM3	OMIM:615816
HP:0002960	Autoimmunity	340061	STING1	OMIM:615934
HP:0002960	Autoimmunity	6583	SLC22A4	OMIM:180300
HP:0002960	Autoimmunity	26191	PTPN22	OMIM:180300
HP:0002960	Autoimmunity	51744	CD244	OMIM:180300
HP:0002960	Autoimmunity	4795	NFKBIL1	OMIM:180300
HP:0002960	Autoimmunity	3586	IL10	OMIM:180300
HP:0002960	Autoimmunity	3106	HLA-B	OMIM:106300
HP:0002960	Autoimmunity	6399	TRAPPC2	ORPHA:93284
HP:0002960	Autoimmunity	144811	LACC1	ORPHA:85414
HP:0002960	Autoimmunity	4282	MIF	ORPHA:85414
HP:0002960	Autoimmunity	3569	IL6	ORPHA:85414
HP:0002960	Autoimmunity	3569	IL6	OMIM:222100
HP:0002960	Autoimmunity	79722	ANKRD55	ORPHA:85410
HP:0002960	Autoimmunity	5771	PTPN2	ORPHA:85410
HP:0002960	Autoimmunity	23592	LEMD3	ORPHA:166119
HP:0002960	Autoimmunity	3932	LCK	OMIM:615758
HP:0002960	Autoimmunity	3119	HLA-DQB1	ORPHA:703
HP:0002960	Autoimmunity	1776	DNASE1L3	ORPHA:36412
HP:0002960	Autoimmunity	1235	CCR6	ORPHA:220402
HP:0002960	Autoimmunity	1235	CCR6	ORPHA:220393
HP:0002960	Autoimmunity	79932	KIAA0319L	ORPHA:220402
HP:0002960	Autoimmunity	1490	CCN2	ORPHA:220402
HP:0002960	Autoimmunity	1490	CCN2	ORPHA:220393
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:220402
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:186
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:220393
HP:0002960	Autoimmunity	857	CAV1	ORPHA:220402
HP:0002960	Autoimmunity	857	CAV1	ORPHA:220393
HP:0002960	Autoimmunity	4522	MTHFD1	OMIM:617780
HP:0002960	Autoimmunity	79840	NHEJ1	ORPHA:169079
HP:0002960	Autoimmunity	2859	GPR35	ORPHA:171
HP:0002960	Autoimmunity	10507	SEMA4D	ORPHA:171
HP:0002960	Autoimmunity	4485	MST1	ORPHA:171
HP:0002960	Autoimmunity	6925	TCF4	ORPHA:171
HP:0002960	Autoimmunity	2332	FMR1	ORPHA:449291
HP:0002960	Autoimmunity	2624	GATA2	ORPHA:98827
HP:0002960	Autoimmunity	84823	LMNB2	ORPHA:79087
HP:0002960	Autoimmunity	1312	COMT	ORPHA:567
HP:0002960	Autoimmunity	221037	JMJD1C	ORPHA:567
HP:0002960	Autoimmunity	2812	GP1BB	ORPHA:567
HP:0002960	Autoimmunity	6239	RREB1	ORPHA:567
HP:0002960	Autoimmunity	6899	TBX1	ORPHA:567
HP:0002960	Autoimmunity	7290	HIRA	ORPHA:567
HP:0002960	Autoimmunity	9632	SEC24C	ORPHA:567
HP:0002960	Autoimmunity	7353	UFD1	ORPHA:567
HP:0002960	Autoimmunity	421	ARVCF	ORPHA:567
HP:0002960	Autoimmunity	29071	C1GALT1C1	OMIM:300622
HP:0002960	Autoimmunity	5295	PIK3R1	OMIM:616005
HP:0002960	Autoimmunity	712	C1QA	OMIM:613652
HP:0002960	Autoimmunity	2321	FLT1	ORPHA:275555
HP:0002960	Autoimmunity	219736	STOX1	ORPHA:275555
HP:0002960	Autoimmunity	10699	CORIN	ORPHA:275555
HP:0002960	Autoimmunity	7456	WIPF1	ORPHA:906
HP:0002960	Autoimmunity	3115	HLA-DPB1	ORPHA:900
HP:0002960	Autoimmunity	5657	PRTN3	ORPHA:900
HP:0002960	Autoimmunity	3113	HLA-DPA1	ORPHA:900
HP:0002960	Autoimmunity	6023	RMRP	ORPHA:39041
HP:0002960	Autoimmunity	55636	CHD7	ORPHA:39041
HP:0002960	Autoimmunity	3981	LIG4	ORPHA:39041
HP:0002960	Autoimmunity	3561	IL2RG	ORPHA:39041
HP:0002960	Autoimmunity	715	C1R	OMIM:130080
HP:0002960	Autoimmunity	3594	IL12RB1	ORPHA:186
HP:0002960	Autoimmunity	23534	TNPO3	ORPHA:186
HP:0002960	Autoimmunity	3592	IL12A	ORPHA:186
HP:0002960	Autoimmunity	6689	SPIB	ORPHA:186
HP:0002960	Autoimmunity	5450	POU2AF1	ORPHA:186
HP:0002960	Autoimmunity	9966	TNFSF15	ORPHA:186
HP:0002960	Autoimmunity	79258	MMEL1	ORPHA:186
HP:0002960	Autoimmunity	84868	HAVCR2	OMIM:618398
HP:0002960	Autoimmunity	5205	ATP8B1	ORPHA:69665
HP:0002960	Autoimmunity	8647	ABCB11	ORPHA:69665
HP:0002960	Autoimmunity	5244	ABCB4	ORPHA:69665
HP:0002960	Autoimmunity	9971	NR1H4	ORPHA:69665
HP:0002960	Autoimmunity	50485	SMARCAL1	ORPHA:1830
HP:0002960	Autoimmunity	326	AIRE	ORPHA:3453
HP:0002960	Autoimmunity	695	BTK	ORPHA:47
HP:0002960	Autoimmunity	208	AKT2	ORPHA:293964
HP:0002960	Autoimmunity	3514	IGKC	ORPHA:183675
HP:0002960	Autoimmunity	3501	IGHG2	ORPHA:183675
HP:0002960	Autoimmunity	710	SERPING1	OMIM:106100
HP:0002960	Autoimmunity	56246	MRAP	ORPHA:361
HP:0002960	Autoimmunity	6770	STAR	ORPHA:361
HP:0002960	Autoimmunity	4158	MC2R	ORPHA:361
HP:0002960	Autoimmunity	23530	NNT	ORPHA:361
HP:0002960	Autoimmunity	10587	TXNRD2	ORPHA:361
HP:0002960	Autoimmunity	3710	ITPR3	OMIM:222100
HP:0002960	Autoimmunity	10535	RNASEH2A	ORPHA:51
HP:0002960	Autoimmunity	84153	RNASEH2C	ORPHA:51
HP:0002960	Autoimmunity	25939	SAMHD1	ORPHA:51
HP:0002960	Autoimmunity	79621	RNASEH2B	ORPHA:51
HP:0002960	Autoimmunity	103	ADAR	ORPHA:51
HP:0002960	Autoimmunity	100147744	RNU7-1	ORPHA:51
HP:0002960	Autoimmunity	134353	LSM11	ORPHA:51
HP:0002960	Autoimmunity	64135	IFIH1	ORPHA:51
HP:0002960	Autoimmunity	1288	COL4A6	ORPHA:1018
HP:0002960	Autoimmunity	1287	COL4A5	ORPHA:1018
HP:0002960	Autoimmunity	51311	TLR8	OMIM:301078
HP:0002960	Autoimmunity	10312	TCIRG1	ORPHA:486
HP:0002960	Autoimmunity	1991	ELANE	ORPHA:486
HP:0002960	Autoimmunity	2672	GFI1	ORPHA:486
HP:0002960	Autoimmunity	6729	SRP54	ORPHA:486
HP:0002960	Autoimmunity	81570	CLPB	ORPHA:486
HP:0002960	Autoimmunity	2215	FCGR3B	ORPHA:464370
HP:0002960	Autoimmunity	6775	STAT4	ORPHA:93552
HP:0002960	Autoimmunity	6696	SPP1	ORPHA:93552
HP:0002960	Autoimmunity	3654	IRAK1	ORPHA:93552
HP:0002960	Autoimmunity	9056	SLC7A7	ORPHA:470
HP:0002960	Autoimmunity	1410	CRYAB	OMIM:608810
HP:0002960	Autoimmunity	1314	COPA	OMIM:616414
HP:0002960	Autoimmunity	10095	ARPC1B	OMIM:617718
HP:0002960	Autoimmunity	4313	MMP2	OMIM:259600
HP:0002960	Autoimmunity	440275	EIF2AK4	ORPHA:199241
HP:0002960	Autoimmunity	11277	TREX1	OMIM:225750
HP:0002960	Autoimmunity	11277	TREX1	OMIM:152700
HP:0002960	Autoimmunity	2212	FCGR2A	OMIM:152700
HP:0002960	Autoimmunity	2213	FCGR2B	OMIM:152700
HP:0002960	Autoimmunity	1773	DNASE1	OMIM:152700
HP:0002960	Autoimmunity	1854	DUT	OMIM:620044
HP:0002960	Autoimmunity	7128	TNFAIP3	OMIM:616744
HP:0002960	Autoimmunity	100	ADA	ORPHA:277
HP:0002960	Autoimmunity	51371	POMP	OMIM:618048
HP:0002960	Autoimmunity	50943	FOXP3	ORPHA:37042
HP:0002960	Autoimmunity	169792	GLIS3	OMIM:610199
HP:0002960	Autoimmunity	10125	RASGRP1	OMIM:618534
HP:0002960	Autoimmunity	7068	THRB	OMIM:274300
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:552
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:79134
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:99885
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:99886
HP:0002960	Autoimmunity	8462	KLF11	ORPHA:552
HP:0002960	Autoimmunity	2645	GCK	ORPHA:552
HP:0002960	Autoimmunity	2645	GCK	ORPHA:99885
HP:0002960	Autoimmunity	26060	APPL1	ORPHA:552
HP:0002960	Autoimmunity	640	BLK	ORPHA:552
HP:0002960	Autoimmunity	1056	CEL	ORPHA:552
HP:0002960	Autoimmunity	4760	NEUROD1	ORPHA:552
HP:0002960	Autoimmunity	3651	PDX1	ORPHA:552
HP:0002960	Autoimmunity	3651	PDX1	ORPHA:99885
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:552
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:79134
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:99885
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:99886
HP:0002960	Autoimmunity	5078	PAX4	ORPHA:552
HP:0002960	Autoimmunity	3172	HNF4A	ORPHA:552
HP:0002960	Autoimmunity	6927	HNF1A	ORPHA:552
HP:0002960	Autoimmunity	3630	INS	ORPHA:552
HP:0002960	Autoimmunity	3630	INS	ORPHA:99885
HP:0002960	Autoimmunity	4791	NFKB2	ORPHA:293978
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:99819
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:424
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:90673
HP:0002960	Autoimmunity	3123	HLA-DRB1	ORPHA:747
HP:0002960	Autoimmunity	811	CALR	ORPHA:824
HP:0002960	Autoimmunity	4352	MPL	ORPHA:824
HP:0002960	Autoimmunity	3717	JAK2	ORPHA:824
HP:0002960	Autoimmunity	54790	TET2	ORPHA:824
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:94089
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:79443
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:79444
HP:0002960	Autoimmunity	8675	STX16	ORPHA:94089
HP:0002960	Autoimmunity	7317	UBA1	OMIM:301054
HP:0002960	Autoimmunity	79731	NARS2	ORPHA:79134
HP:0002960	Autoimmunity	6774	STAT3	ORPHA:99885
HP:0002960	Autoimmunity	346171	ZFP57	ORPHA:99886
HP:0002960	Autoimmunity	57061	HYMAI	ORPHA:99886
HP:0002960	Autoimmunity	5325	PLAGL1	ORPHA:99886
HP:0002960	Autoimmunity	7252	TSHB	ORPHA:90674
HP:0002960	Autoimmunity	3458	IFNG	ORPHA:88
HP:0002960	Autoimmunity	5551	PRF1	ORPHA:88
HP:0002960	Autoimmunity	7012	TERC	ORPHA:88
HP:0002960	Autoimmunity	51119	SBDS	ORPHA:88
HP:0002960	Autoimmunity	7015	TERT	ORPHA:88
HP:0002960	Autoimmunity	1439	CSF2RB	ORPHA:264675
HP:0002960	Autoimmunity	1438	CSF2RA	ORPHA:264675
HP:0002960	Autoimmunity	7201	TRHR	ORPHA:99832
HP:0002960	Autoimmunity	1493	CTLA4	OMIM:140300
HP:0002960	Autoimmunity	8772	FADD	ORPHA:306550
HP:0002960	Autoimmunity	2903	GRIN2A	ORPHA:98818
HP:0002960	Autoimmunity	5339	PLEC	ORPHA:254361
HP:0002960	Autoimmunity	1134	CHRNA1	OMIM:601462
HP:0002960	Autoimmunity	1134	CHRNA1	OMIM:608930
HP:0002960	Autoimmunity	6329	SCN4A	OMIM:614198
HP:0002960	Autoimmunity	5913	RAPSN	OMIM:616326
HP:0002960	Autoimmunity	199857	ALG14	OMIM:616227
HP:0002960	Autoimmunity	1103	CHAT	OMIM:254210
HP:0002960	Autoimmunity	1103	CHAT	ORPHA:98914
HP:0002960	Autoimmunity	1140	CHRNB1	OMIM:616314
HP:0002960	Autoimmunity	1140	CHRNB1	OMIM:616313
HP:0002960	Autoimmunity	1145	CHRNE	OMIM:616324
HP:0002960	Autoimmunity	1144	CHRND	OMIM:616323
HP:0002960	Autoimmunity	9581	PREPL	OMIM:616224
HP:0002960	Autoimmunity	60482	SLC5A7	ORPHA:98914
HP:0002960	Autoimmunity	4649	MYO9A	ORPHA:98914
HP:0002960	Autoimmunity	1305	COL13A1	ORPHA:98914
HP:0002960	Autoimmunity	6576	SLC25A1	ORPHA:98914
HP:0002960	Autoimmunity	6843	VAMP1	ORPHA:98914
HP:0002960	Autoimmunity	375790	AGRN	ORPHA:98914
HP:0002960	Autoimmunity	127833	SYT2	ORPHA:98914
HP:0002960	Autoimmunity	6572	SLC18A3	ORPHA:98914
HP:0002960	Autoimmunity	6616	SNAP25	ORPHA:98914
HP:0002960	Autoimmunity	8292	COLQ	OMIM:603034
HP:0002960	Autoimmunity	285489	DOK7	OMIM:254300
HP:0002960	Autoimmunity	3930	LBR	OMIM:613471
HP:0002960	Autoimmunity	60468	BACH2	OMIM:618394
HP:0002960	Autoimmunity	6005	RHAG	ORPHA:71275
HP:0002960	Autoimmunity	6006	RHCE	ORPHA:71275
HP:0002960	Autoimmunity	6007	RHD	ORPHA:71275
HP:0002960	Autoimmunity	51284	TLR7	OMIM:301080
HP:0002960	Autoimmunity	1499	CTNNB1	ORPHA:91414
HP:0002960	Autoimmunity	5611	DNAJC3	OMIM:616192
HP:0002960	Autoimmunity	93587	TRMT10A	OMIM:616033
HP:0002961	Dysgammaglobulinemia	4683	NBN	OMIM:251260
HP:0002961	Dysgammaglobulinemia	959	CD40LG	OMIM:308230
HP:0002961	Dysgammaglobulinemia	8517	IKBKG	OMIM:300291
HP:0002961	Dysgammaglobulinemia	331	XIAP	OMIM:308240
HP:0002961	Dysgammaglobulinemia	4068	SH2D1A	OMIM:308240
HP:0002963	Abnormal delayed hypersensitivity skin test	7454	WAS	OMIM:301000
HP:0002963	Abnormal delayed hypersensitivity skin test	4261	CIITA	OMIM:209920
HP:0002963	Abnormal delayed hypersensitivity skin test	5994	RFXAP	OMIM:209920
HP:0002963	Abnormal delayed hypersensitivity skin test	5993	RFX5	OMIM:209920
HP:0002963	Abnormal delayed hypersensitivity skin test	8625	RFXANK	OMIM:209920
HP:0002963	Abnormal delayed hypersensitivity skin test	57724	EPG5	OMIM:242840
HP:0002963	Abnormal delayed hypersensitivity skin test	3718	JAK3	OMIM:600802
HP:0002963	Abnormal delayed hypersensitivity skin test	843	CASP10	OMIM:603909
HP:0002963	Abnormal delayed hypersensitivity skin test	5873	RAB27A	OMIM:607624
HP:0002963	Abnormal delayed hypersensitivity skin test	56160	NSMCE3	OMIM:617241
HP:0002963	Abnormal delayed hypersensitivity skin test	355	FAS	OMIM:601859
HP:0002963	Abnormal delayed hypersensitivity skin test	356	FASLG	OMIM:601859
HP:0002965	Cutaneous anergy	4261	CIITA	OMIM:209920
HP:0002965	Cutaneous anergy	5994	RFXAP	OMIM:209920
HP:0002965	Cutaneous anergy	5993	RFX5	OMIM:209920
HP:0002965	Cutaneous anergy	8625	RFXANK	OMIM:209920
HP:0002965	Cutaneous anergy	57724	EPG5	OMIM:242840
HP:0002965	Cutaneous anergy	3718	JAK3	OMIM:600802
HP:0002967	Cubitus valgus	64374	SIL1	OMIM:248800
HP:0002967	Cubitus valgus	8036	SHOC2	OMIM:607721
HP:0002967	Cubitus valgus	6424	SFRP4	OMIM:265900
HP:0002967	Cubitus valgus	157680	VPS13B	ORPHA:193
HP:0002967	Cubitus valgus	157680	VPS13B	OMIM:216550
HP:0002967	Cubitus valgus	8216	LZTR1	OMIM:616564
HP:0002967	Cubitus valgus	8216	LZTR1	OMIM:605275
HP:0002967	Cubitus valgus	3572	IL6ST	OMIM:619750
HP:0002967	Cubitus valgus	4010	LMX1B	ORPHA:2614
HP:0002967	Cubitus valgus	54361	WNT4	ORPHA:247768
HP:0002967	Cubitus valgus	5828	PEX2	OMIM:614866
HP:0002967	Cubitus valgus	5894	RAF1	OMIM:611554
HP:0002967	Cubitus valgus	5894	RAF1	OMIM:611553
HP:0002967	Cubitus valgus	673	BRAF	OMIM:115150
HP:0002967	Cubitus valgus	673	BRAF	OMIM:613707
HP:0002967	Cubitus valgus	673	BRAF	OMIM:613706
HP:0002967	Cubitus valgus	673	BRAF	ORPHA:1340
HP:0002967	Cubitus valgus	673	BRAF	OMIM:163950
HP:0002967	Cubitus valgus	2254	FGF9	OMIM:612961
HP:0002967	Cubitus valgus	57122	NUP107	OMIM:618348
HP:0002967	Cubitus valgus	5830	PEX5	OMIM:214110
HP:0002967	Cubitus valgus	5447	POR	ORPHA:95699
HP:0002967	Cubitus valgus	55027	HEATR3	OMIM:620072
HP:0002967	Cubitus valgus	5594	MAPK1	OMIM:619087
HP:0002967	Cubitus valgus	8450	CUL4B	ORPHA:85293
HP:0002967	Cubitus valgus	23529	CLCF1	OMIM:610313
HP:0002967	Cubitus valgus	55717	WDR11	OMIM:620237
HP:0002967	Cubitus valgus	6473	SHOX	ORPHA:314795
HP:0002967	Cubitus valgus	5189	PEX1	OMIM:214100
HP:0002967	Cubitus valgus	4763	NF1	OMIM:601321
HP:0002967	Cubitus valgus	10940	POP1	OMIM:617396
HP:0002967	Cubitus valgus	8242	KDM5C	OMIM:300534
HP:0002967	Cubitus valgus	9469	CHST3	ORPHA:263463
HP:0002967	Cubitus valgus	9469	CHST3	OMIM:143095
HP:0002967	Cubitus valgus	9241	NOG	OMIM:186570
HP:0002967	Cubitus valgus	9241	NOG	OMIM:186500
HP:0002967	Cubitus valgus	54496	PRMT7	OMIM:617157
HP:0002967	Cubitus valgus	92255	LMBRD2	OMIM:619694
HP:0002967	Cubitus valgus	89970	RSPRY1	ORPHA:457395
HP:0002967	Cubitus valgus	54880	BCOR	ORPHA:2712
HP:0002967	Cubitus valgus	10381	TUBB3	ORPHA:300570
HP:0002967	Cubitus valgus	5604	MAP2K1	ORPHA:1340
HP:0002967	Cubitus valgus	5604	MAP2K1	OMIM:163950
HP:0002967	Cubitus valgus	5605	MAP2K2	ORPHA:1340
HP:0002967	Cubitus valgus	3845	KRAS	ORPHA:1340
HP:0002967	Cubitus valgus	5745	PTH1R	ORPHA:79106
HP:0002967	Cubitus valgus	444	ASPH	OMIM:601552
HP:0002967	Cubitus valgus	5566	PRKACA	ORPHA:289
HP:0002967	Cubitus valgus	5567	PRKACB	ORPHA:289
HP:0002967	Cubitus valgus	2735	GLI1	ORPHA:289
HP:0002967	Cubitus valgus	2121	EVC	ORPHA:289
HP:0002967	Cubitus valgus	51626	DYNC2LI1	ORPHA:289
HP:0002967	Cubitus valgus	132884	EVC2	ORPHA:289
HP:0002967	Cubitus valgus	5781	PTPN11	OMIM:151100
HP:0002967	Cubitus valgus	5781	PTPN11	OMIM:163950
HP:0002967	Cubitus valgus	5718	PSMD12	ORPHA:529962
HP:0002967	Cubitus valgus	2186	BPTF	ORPHA:529962
HP:0002967	Cubitus valgus	867	CBL	OMIM:613563
HP:0002967	Cubitus valgus	23395	LARS2	OMIM:615300
HP:0002967	Cubitus valgus	6736	SRY	ORPHA:1772
HP:0002967	Cubitus valgus	200734	SPRED2	OMIM:619745
HP:0002967	Cubitus valgus	6654	SOS1	OMIM:610733
HP:0002967	Cubitus valgus	2697	GJA1	OMIM:164200
HP:0002970	Genu varum	1280	COL2A1	OMIM:184255
HP:0002970	Genu varum	1280	COL2A1	ORPHA:93315
HP:0002970	Genu varum	1280	COL2A1	ORPHA:85166
HP:0002970	Genu varum	1280	COL2A1	OMIM:156550
HP:0002970	Genu varum	2335	FN1	OMIM:184255
HP:0002970	Genu varum	2335	FN1	ORPHA:93315
HP:0002970	Genu varum	1311	COMP	ORPHA:750
HP:0002970	Genu varum	1311	COMP	OMIM:177170
HP:0002970	Genu varum	1311	COMP	ORPHA:93308
HP:0002970	Genu varum	1576	CYP3A4	OMIM:619073
HP:0002970	Genu varum	4322	MMP13	OMIM:602111
HP:0002970	Genu varum	4322	MMP13	ORPHA:93356
HP:0002970	Genu varum	4322	MMP13	ORPHA:2501
HP:0002970	Genu varum	3835	KIF22	ORPHA:93360
HP:0002970	Genu varum	54808	DYM	OMIM:607326
HP:0002970	Genu varum	54808	DYM	OMIM:223800
HP:0002970	Genu varum	65992	DDRGK1	OMIM:602557
HP:0002970	Genu varum	65992	DDRGK1	ORPHA:93352
HP:0002970	Genu varum	7421	VDR	ORPHA:93160
HP:0002970	Genu varum	5251	PHEX	ORPHA:89936
HP:0002970	Genu varum	1300	COL10A1	OMIM:156500
HP:0002970	Genu varum	1300	COL10A1	ORPHA:174
HP:0002970	Genu varum	1594	CYP27B1	ORPHA:289157
HP:0002970	Genu varum	120227	CYP2R1	ORPHA:289157
HP:0002970	Genu varum	579	NKX3-2	OMIM:613330
HP:0002970	Genu varum	8838	CCN6	OMIM:208230
HP:0002970	Genu varum	8838	CCN6	ORPHA:1159
HP:0002970	Genu varum	55325	UFSP2	OMIM:617974
HP:0002970	Genu varum	9401	RECQL4	ORPHA:221016
HP:0002970	Genu varum	5593	PRKG2	OMIM:619636
HP:0002970	Genu varum	11128	POLR3A	OMIM:264090
HP:0002970	Genu varum	2261	FGFR3	ORPHA:429
HP:0002970	Genu varum	2261	FGFR3	OMIM:146000
HP:0002970	Genu varum	2261	FGFR3	OMIM:100800
HP:0002970	Genu varum	59341	TRPV4	ORPHA:93314
HP:0002970	Genu varum	4796	TONSL	OMIM:271510
HP:0002970	Genu varum	4148	MATN3	ORPHA:93311
HP:0002970	Genu varum	1298	COL9A2	OMIM:600204
HP:0002970	Genu varum	1298	COL9A2	ORPHA:166002
HP:0002970	Genu varum	58	ACTA1	ORPHA:171436
HP:0002970	Genu varum	7169	TPM2	ORPHA:171436
HP:0002970	Genu varum	4703	NEB	ORPHA:171436
HP:0002970	Genu varum	10324	KLHL41	ORPHA:171436
HP:0002970	Genu varum	56203	LMOD3	ORPHA:171436
HP:0002970	Genu varum	1073	CFL2	ORPHA:171436
HP:0002970	Genu varum	9321	TRIP11	OMIM:184260
HP:0002970	Genu varum	51715	RAB23	OMIM:201000
HP:0002970	Genu varum	176	ACAN	OMIM:608361
HP:0002970	Genu varum	79631	EFL1	OMIM:617941
HP:0002970	Genu varum	124583	CANT1	OMIM:251450
HP:0002970	Genu varum	124583	CANT1	OMIM:617719
HP:0002970	Genu varum	1297	COL9A1	ORPHA:166002
HP:0002970	Genu varum	1299	COL9A3	ORPHA:166002
HP:0002970	Genu varum	3417	IDH1	ORPHA:99646
HP:0002970	Genu varum	284403	WDR62	OMIM:604317
HP:0002970	Genu varum	4318	MMP9	OMIM:613073
HP:0002970	Genu varum	3549	IHH	ORPHA:63446
HP:0002970	Genu varum	3549	IHH	OMIM:607778
HP:0002970	Genu varum	1758	DMP1	ORPHA:289176
HP:0002970	Genu varum	5167	ENPP1	ORPHA:289176
HP:0002970	Genu varum	5167	ENPP1	OMIM:613312
HP:0002970	Genu varum	4998	ORC1	OMIM:224690
HP:0002970	Genu varum	4052	LTBP1	OMIM:619451
HP:0002970	Genu varum	7994	KAT6A	OMIM:616268
HP:0002970	Genu varum	6137	RPL13	OMIM:618728
HP:0002970	Genu varum	64131	XYLT1	OMIM:615777
HP:0002970	Genu varum	9939	RBM8A	ORPHA:3320
HP:0002970	Genu varum	9939	RBM8A	OMIM:274000
HP:0002970	Genu varum	3248	HPGD	ORPHA:2796
HP:0002970	Genu varum	6578	SLCO2A1	ORPHA:2796
HP:0002970	Genu varum	26123	TCTN3	ORPHA:2753
HP:0002970	Genu varum	6473	SHOX	ORPHA:240
HP:0002970	Genu varum	633	BGN	OMIM:300106
HP:0002970	Genu varum	5442	POLRMT	OMIM:619743
HP:0002970	Genu varum	23594	ORC6	OMIM:613803
HP:0002970	Genu varum	6023	RMRP	OMIM:250460
HP:0002970	Genu varum	64682	ANAPC1	ORPHA:221008
HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	7454	WAS	OMIM:301000
HP:0002972	Reduced delayed hypersensitivity	843	CASP10	OMIM:603909
HP:0002972	Reduced delayed hypersensitivity	5873	RAB27A	OMIM:607624
HP:0002972	Reduced delayed hypersensitivity	56160	NSMCE3	OMIM:617241
HP:0002972	Reduced delayed hypersensitivity	355	FAS	OMIM:601859
HP:0002972	Reduced delayed hypersensitivity	356	FASLG	OMIM:601859
HP:0002973	Abnormal forearm morphology	5573	PRKAR1A	ORPHA:950
HP:0002973	Abnormal forearm morphology	5144	PDE4D	ORPHA:950
HP:0002973	Abnormal forearm morphology	10082	GPC6	ORPHA:93329
HP:0002973	Abnormal forearm morphology	8200	GDF5	ORPHA:2639
HP:0002973	Abnormal forearm morphology	658	BMPR1B	ORPHA:2639
HP:0002973	Abnormal forearm morphology	57167	SALL4	ORPHA:959
HP:0002973	Abnormal forearm morphology	2317	FLNB	ORPHA:1263
HP:0002973	Abnormal forearm morphology	7040	TGFB1	ORPHA:1328
HP:0002973	Abnormal forearm morphology	6926	TBX3	ORPHA:3138
HP:0002973	Abnormal forearm morphology	10743	RAI1	OMIM:182290
HP:0002973	Abnormal forearm morphology	1294	COL7A1	ORPHA:89843
HP:0002973	Abnormal forearm morphology	23476	BRD4	ORPHA:199
HP:0002973	Abnormal forearm morphology	9126	SMC3	ORPHA:199
HP:0002973	Abnormal forearm morphology	8243	SMC1A	ORPHA:199
HP:0002973	Abnormal forearm morphology	55869	HDAC8	ORPHA:199
HP:0002973	Abnormal forearm morphology	5885	RAD21	ORPHA:199
HP:0002973	Abnormal forearm morphology	5885	RAD21	OMIM:614701
HP:0002973	Abnormal forearm morphology	4091	SMAD6	OMIM:179300
HP:0002973	Abnormal forearm morphology	5648	MASP1	OMIM:257920
HP:0002973	Abnormal forearm morphology	5648	MASP1	ORPHA:293843
HP:0002973	Abnormal forearm morphology	6804	STX1A	ORPHA:904
HP:0002973	Abnormal forearm morphology	7461	CLIP2	ORPHA:904
HP:0002973	Abnormal forearm morphology	84277	DNAJC30	ORPHA:904
HP:0002973	Abnormal forearm morphology	8468	FKBP6	ORPHA:904
HP:0002973	Abnormal forearm morphology	5982	RFC2	ORPHA:904
HP:0002973	Abnormal forearm morphology	2969	GTF2I	ORPHA:904
HP:0002973	Abnormal forearm morphology	3984	LIMK1	ORPHA:904
HP:0002973	Abnormal forearm morphology	9569	GTF2IRD1	ORPHA:904
HP:0002973	Abnormal forearm morphology	155382	VPS37D	ORPHA:904
HP:0002973	Abnormal forearm morphology	155368	METTL27	ORPHA:904
HP:0002973	Abnormal forearm morphology	114049	BUD23	ORPHA:904
HP:0002973	Abnormal forearm morphology	7458	EIF4H	ORPHA:904
HP:0002973	Abnormal forearm morphology	84163	GTF2IRD2	ORPHA:904
HP:0002973	Abnormal forearm morphology	9275	BCL7B	ORPHA:904
HP:0002973	Abnormal forearm morphology	26608	TBL2	ORPHA:904
HP:0002973	Abnormal forearm morphology	653361	NCF1	ORPHA:904
HP:0002973	Abnormal forearm morphology	135886	TMEM270	ORPHA:904
HP:0002973	Abnormal forearm morphology	51085	MLXIPL	ORPHA:904
HP:0002973	Abnormal forearm morphology	51085	MLXIPL	OMIM:194050
HP:0002973	Abnormal forearm morphology	9031	BAZ1B	ORPHA:904
HP:0002973	Abnormal forearm morphology	2006	ELN	ORPHA:904
HP:0002973	Abnormal forearm morphology	2006	ELN	OMIM:194050
HP:0002973	Abnormal forearm morphology	2122	MECOM	ORPHA:71289
HP:0002973	Abnormal forearm morphology	2122	MECOM	OMIM:616738
HP:0002973	Abnormal forearm morphology	78989	COLEC11	OMIM:265050
HP:0002973	Abnormal forearm morphology	78989	COLEC11	ORPHA:293843
HP:0002973	Abnormal forearm morphology	54880	BCOR	OMIM:300166
HP:0002973	Abnormal forearm morphology	54880	BCOR	ORPHA:2712
HP:0002973	Abnormal forearm morphology	4094	MAF	ORPHA:1272
HP:0002973	Abnormal forearm morphology	4094	MAF	OMIM:601088
HP:0002973	Abnormal forearm morphology	29998	BICRA	OMIM:619325
HP:0002973	Abnormal forearm morphology	23522	KAT6B	ORPHA:85201
HP:0002973	Abnormal forearm morphology	23522	KAT6B	OMIM:606170
HP:0002973	Abnormal forearm morphology	1723	DHODH	OMIM:263750
HP:0002973	Abnormal forearm morphology	4038	LRP4	ORPHA:3258
HP:0002973	Abnormal forearm morphology	4038	LRP4	OMIM:212780
HP:0002973	Abnormal forearm morphology	324	APC	ORPHA:3258
HP:0002973	Abnormal forearm morphology	63895	PIEZO2	OMIM:248700
HP:0002973	Abnormal forearm morphology	63895	PIEZO2	ORPHA:2461
HP:0002973	Abnormal forearm morphology	10584	COLEC10	OMIM:248340
HP:0002973	Abnormal forearm morphology	10584	COLEC10	ORPHA:293843
HP:0002973	Abnormal forearm morphology	50945	TBX22	OMIM:302905
HP:0002973	Abnormal forearm morphology	50945	TBX22	ORPHA:921
HP:0002973	Abnormal forearm morphology	22800	RRAS2	ORPHA:648
HP:0002973	Abnormal forearm morphology	867	CBL	ORPHA:648
HP:0002973	Abnormal forearm morphology	8216	LZTR1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6016	RIT1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6237	RRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	5894	RAF1	ORPHA:648
HP:0002973	Abnormal forearm morphology	22808	MRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	3845	KRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	200734	SPRED2	ORPHA:648
HP:0002973	Abnormal forearm morphology	4893	NRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	6654	SOS1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6655	SOS2	ORPHA:648
HP:0002973	Abnormal forearm morphology	5781	PTPN11	ORPHA:648
HP:0002973	Abnormal forearm morphology	5922	RASA2	ORPHA:648
HP:0002973	Abnormal forearm morphology	22856	CHSY1	OMIM:605282
HP:0002973	Abnormal forearm morphology	64131	XYLT1	ORPHA:1425
HP:0002973	Abnormal forearm morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002973	Abnormal forearm morphology	7291	TWIST1	OMIM:101400
HP:0002973	Abnormal forearm morphology	53834	FGFRL1	OMIM:194190
HP:0002973	Abnormal forearm morphology	1487	CTBP1	OMIM:194190
HP:0002973	Abnormal forearm morphology	3954	LETM1	OMIM:194190
HP:0002973	Abnormal forearm morphology	7468	NSD2	OMIM:194190
HP:0002973	Abnormal forearm morphology	10815	CPLX1	OMIM:194190
HP:0002973	Abnormal forearm morphology	26040	SETBP1	ORPHA:798
HP:0002973	Abnormal forearm morphology	28981	IFT81	OMIM:617895
HP:0002973	Abnormal forearm morphology	92002	CCNQ	ORPHA:140952
HP:0002973	Abnormal forearm morphology	2255	FGF10	ORPHA:2363
HP:0002973	Abnormal forearm morphology	9321	TRIP11	OMIM:200600
HP:0002973	Abnormal forearm morphology	6223	RPS19	OMIM:105650
HP:0002973	Abnormal forearm morphology	79087	ALG12	OMIM:607143
HP:0002973	Abnormal forearm morphology	9775	EIF4A3	OMIM:268305
HP:0002973	Abnormal forearm morphology	4882	NPR2	OMIM:602875
HP:0002973	Abnormal forearm morphology	8074	FGF23	OMIM:617993
HP:0002973	Abnormal forearm morphology	91147	TMEM67	OMIM:602152
HP:0002973	Abnormal forearm morphology	3549	IHH	OMIM:607778
HP:0002973	Abnormal forearm morphology	567	B2M	OMIM:241600
HP:0002973	Abnormal forearm morphology	3930	LBR	OMIM:618019
HP:0002973	Abnormal forearm morphology	64175	P3H1	OMIM:610915
HP:0002973	Abnormal forearm morphology	79659	DYNC2H1	OMIM:613091
HP:0002973	Abnormal forearm morphology	51604	PIGT	OMIM:615398
HP:0002973	Abnormal forearm morphology	9820	CUL7	ORPHA:2616
HP:0002973	Abnormal forearm morphology	23363	OBSL1	ORPHA:2616
HP:0002973	Abnormal forearm morphology	83987	CCDC8	ORPHA:2616
HP:0002973	Abnormal forearm morphology	182	JAG1	OMIM:118450
HP:0002973	Abnormal forearm morphology	1301	COL11A1	OMIM:154780
HP:0002973	Abnormal forearm morphology	57020	VPS35L	OMIM:619135
HP:0002973	Abnormal forearm morphology	112752	IFT43	OMIM:617866
HP:0002973	Abnormal forearm morphology	2261	FGFR3	OMIM:100800
HP:0002973	Abnormal forearm morphology	5593	PRKG2	OMIM:619636
HP:0002973	Abnormal forearm morphology	5116	PCNT	OMIM:210720
HP:0002973	Abnormal forearm morphology	3207	HOXA11	OMIM:605432
HP:0002973	Abnormal forearm morphology	3911	LAMA5	OMIM:620076
HP:0002973	Abnormal forearm morphology	9791	PTDSS1	OMIM:151050
HP:0002973	Abnormal forearm morphology	56603	CYP26B1	OMIM:614416
HP:0002973	Abnormal forearm morphology	2254	FGF9	OMIM:612961
HP:0002973	Abnormal forearm morphology	59341	TRPV4	ORPHA:93314
HP:0002973	Abnormal forearm morphology	2131	EXT1	OMIM:133700
HP:0002973	Abnormal forearm morphology	2132	EXT2	OMIM:133701
HP:0002973	Abnormal forearm morphology	11285	B4GALT7	OMIM:130070
HP:0002973	Abnormal forearm morphology	1182	CLCN3	OMIM:619512
HP:0002973	Abnormal forearm morphology	85301	COL27A1	OMIM:615155
HP:0002973	Abnormal forearm morphology	1387	CREBBP	OMIM:180849
HP:0002973	Abnormal forearm morphology	2033	EP300	OMIM:180849
HP:0002973	Abnormal forearm morphology	23233	EXOC6B	ORPHA:93359
HP:0002973	Abnormal forearm morphology	23233	EXOC6B	OMIM:618395
HP:0002973	Abnormal forearm morphology	126792	B3GALT6	ORPHA:93359
HP:0002973	Abnormal forearm morphology	126792	B3GALT6	OMIM:271640
HP:0002973	Abnormal forearm morphology	4010	LMX1B	ORPHA:2614
HP:0002973	Abnormal forearm morphology	6885	MAP3K7	OMIM:617137
HP:0002973	Abnormal forearm morphology	6885	MAP3K7	ORPHA:1826
HP:0002973	Abnormal forearm morphology	145258	GSC	OMIM:602471
HP:0002973	Abnormal forearm morphology	10847	SRCAP	OMIM:136140
HP:0002973	Abnormal forearm morphology	10847	SRCAP	ORPHA:2044
HP:0002973	Abnormal forearm morphology	91179	SCARF2	OMIM:600920
HP:0002973	Abnormal forearm morphology	8318	CDC45	OMIM:617063
HP:0002973	Abnormal forearm morphology	2137	EXTL3	OMIM:617425
HP:0002973	Abnormal forearm morphology	6662	SOX9	OMIM:114290
HP:0002973	Abnormal forearm morphology	10225	CD96	OMIM:211750
HP:0002973	Abnormal forearm morphology	10225	CD96	ORPHA:1308
HP:0002973	Abnormal forearm morphology	2067	ERCC1	OMIM:610758
HP:0002973	Abnormal forearm morphology	2535	FZD2	OMIM:164745
HP:0002973	Abnormal forearm morphology	1146	CHRNG	OMIM:265000
HP:0002973	Abnormal forearm morphology	6497	SKI	OMIM:182212
HP:0002973	Abnormal forearm morphology	2316	FLNA	OMIM:305620
HP:0002973	Abnormal forearm morphology	2316	FLNA	ORPHA:1826
HP:0002973	Abnormal forearm morphology	2316	FLNA	OMIM:311300
HP:0002973	Abnormal forearm morphology	3835	KIF22	OMIM:603546
HP:0002973	Abnormal forearm morphology	57492	ARID1B	OMIM:135900
HP:0002973	Abnormal forearm morphology	3899	AFF3	OMIM:619297
HP:0002973	Abnormal forearm morphology	9469	CHST3	OMIM:143095
HP:0002973	Abnormal forearm morphology	9469	CHST3	OMIM:245600
HP:0002973	Abnormal forearm morphology	4853	NOTCH2	OMIM:102500
HP:0002973	Abnormal forearm morphology	25836	NIPBL	OMIM:122470
HP:0002973	Abnormal forearm morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0002973	Abnormal forearm morphology	7474	WNT5A	OMIM:180700
HP:0002973	Abnormal forearm morphology	1855	DVL1	OMIM:180700
HP:0002973	Abnormal forearm morphology	9241	NOG	OMIM:186500
HP:0002973	Abnormal forearm morphology	1277	COL1A1	ORPHA:287
HP:0002973	Abnormal forearm morphology	1289	COL5A1	ORPHA:287
HP:0002973	Abnormal forearm morphology	1290	COL5A2	ORPHA:287
HP:0002973	Abnormal forearm morphology	26229	B3GAT3	OMIM:245600
HP:0002973	Abnormal forearm morphology	3897	L1CAM	OMIM:304100
HP:0002973	Abnormal forearm morphology	171023	ASXL1	OMIM:605039
HP:0002973	Abnormal forearm morphology	6913	TBX15	OMIM:260660
HP:0002973	Abnormal forearm morphology	91252	SLC39A13	OMIM:612350
HP:0002973	Abnormal forearm morphology	545	ATR	OMIM:210600
HP:0002973	Abnormal forearm morphology	649	BMP1	OMIM:614856
HP:0002973	Abnormal forearm morphology	29980	DONSON	OMIM:617604
HP:0002973	Abnormal forearm morphology	22858	CILK1	OMIM:612651
HP:0002973	Abnormal forearm morphology	9935	MAFB	ORPHA:233
HP:0002973	Abnormal forearm morphology	1123	CHN1	ORPHA:233
HP:0002973	Abnormal forearm morphology	2263	FGFR2	OMIM:149730
HP:0002973	Abnormal forearm morphology	7547	ZIC3	OMIM:314390
HP:0002973	Abnormal forearm morphology	54101	RIPK4	OMIM:263650
HP:0002973	Abnormal forearm morphology	55636	CHD7	OMIM:214800
HP:0002973	Abnormal forearm morphology	202018	TAPT1	OMIM:616897
HP:0002973	Abnormal forearm morphology	7476	WNT7A	ORPHA:2879
HP:0002973	Abnormal forearm morphology	7476	WNT7A	OMIM:276820
HP:0002973	Abnormal forearm morphology	633	BGN	OMIM:300106
HP:0002973	Abnormal forearm morphology	8792	TNFRSF11A	OMIM:602080
HP:0002973	Abnormal forearm morphology	25782	RAB3GAP2	OMIM:212720
HP:0002973	Abnormal forearm morphology	6473	SHOX	OMIM:249700
HP:0002973	Abnormal forearm morphology	9401	RECQL4	ORPHA:221016
HP:0002973	Abnormal forearm morphology	157570	ESCO2	OMIM:216100
HP:0002973	Abnormal forearm morphology	64682	ANAPC1	ORPHA:221008
HP:0002973	Abnormal forearm morphology	1297	COL9A1	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1298	COL9A2	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1299	COL9A3	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1836	SLC26A2	ORPHA:93307
HP:0002973	Abnormal forearm morphology	6638	SNRPN	ORPHA:177910
HP:0002973	Abnormal forearm morphology	4692	NDN	ORPHA:177910
HP:0002973	Abnormal forearm morphology	54551	MAGEL2	ORPHA:177910
HP:0002973	Abnormal forearm morphology	1280	COL2A1	ORPHA:85198
HP:0002973	Abnormal forearm morphology	1311	COMP	OMIM:177170
HP:0002973	Abnormal forearm morphology	1300	COL10A1	ORPHA:174
HP:0002973	Abnormal forearm morphology	54809	SAMD9	OMIM:617053
HP:0002973	Abnormal forearm morphology	2737	GLI3	ORPHA:93322
HP:0002973	Abnormal forearm morphology	387733	IFITM5	OMIM:610967
HP:0002973	Abnormal forearm morphology	4920	ROR2	OMIM:268310
HP:0002973	Abnormal forearm morphology	9939	RBM8A	OMIM:274000
HP:0002973	Abnormal forearm morphology	64135	IFIH1	OMIM:182250
HP:0002973	Abnormal forearm morphology	27125	AFF4	ORPHA:444077
HP:0002973	Abnormal forearm morphology	8241	RBM10	ORPHA:2886
HP:0002973	Abnormal forearm morphology	165	AEBP1	ORPHA:536532
HP:0002973	Abnormal forearm morphology	124583	CANT1	OMIM:251450
HP:0002973	Abnormal forearm morphology	5447	POR	ORPHA:95699
HP:0002973	Abnormal forearm morphology	727857	BHLHA9	ORPHA:3329
HP:0002973	Abnormal forearm morphology	727857	BHLHA9	ORPHA:1986
HP:0002973	Abnormal forearm morphology	5980	REV3L	ORPHA:570
HP:0002973	Abnormal forearm morphology	23129	PLXND1	ORPHA:570
HP:0002973	Abnormal forearm morphology	4318	MMP9	ORPHA:1040
HP:0002973	Abnormal forearm morphology	4322	MMP13	ORPHA:1040
HP:0002973	Abnormal forearm morphology	6910	TBX5	ORPHA:392
HP:0002973	Abnormal forearm morphology	7140	TNNT3	ORPHA:1147
HP:0002973	Abnormal forearm morphology	4621	MYH3	ORPHA:1147
HP:0002973	Abnormal forearm morphology	7169	TPM2	ORPHA:1147
HP:0002973	Abnormal forearm morphology	259232	NALCN	ORPHA:1147
HP:0002973	Abnormal forearm morphology	7136	TNNI2	ORPHA:1147
HP:0002973	Abnormal forearm morphology	672	BRCA1	ORPHA:84
HP:0002973	Abnormal forearm morphology	10459	MAD2L2	ORPHA:84
HP:0002973	Abnormal forearm morphology	7516	XRCC2	ORPHA:84
HP:0002973	Abnormal forearm morphology	29089	UBE2T	ORPHA:84
HP:0002973	Abnormal forearm morphology	675	BRCA2	ORPHA:84
HP:0002973	Abnormal forearm morphology	55120	FANCL	ORPHA:84
HP:0002973	Abnormal forearm morphology	2177	FANCD2	ORPHA:84
HP:0002973	Abnormal forearm morphology	2175	FANCA	ORPHA:84
HP:0002973	Abnormal forearm morphology	2187	FANCB	ORPHA:84
HP:0002973	Abnormal forearm morphology	2176	FANCC	ORPHA:84
HP:0002973	Abnormal forearm morphology	2178	FANCE	ORPHA:84
HP:0002973	Abnormal forearm morphology	2188	FANCF	ORPHA:84
HP:0002973	Abnormal forearm morphology	2189	FANCG	ORPHA:84
HP:0002973	Abnormal forearm morphology	5888	RAD51	ORPHA:84
HP:0002973	Abnormal forearm morphology	5889	RAD51C	ORPHA:84
HP:0002973	Abnormal forearm morphology	55159	RFWD3	ORPHA:84
HP:0002973	Abnormal forearm morphology	83990	BRIP1	ORPHA:84
HP:0002973	Abnormal forearm morphology	57697	FANCM	ORPHA:84
HP:0002973	Abnormal forearm morphology	79728	PALB2	ORPHA:84
HP:0002973	Abnormal forearm morphology	84464	SLX4	ORPHA:84
HP:0002973	Abnormal forearm morphology	2072	ERCC4	ORPHA:84
HP:0002973	Abnormal forearm morphology	55215	FANCI	ORPHA:84
HP:0002973	Abnormal forearm morphology	10262	SF3B4	ORPHA:1788
HP:0002973	Abnormal forearm morphology	10262	SF3B4	ORPHA:245
HP:0002973	Abnormal forearm morphology	3239	HOXD13	ORPHA:887
HP:0002973	Abnormal forearm morphology	60681	FKBP10	ORPHA:1149
HP:0002973	Abnormal forearm morphology	2260	FGFR1	ORPHA:2117
HP:0002973	Abnormal forearm morphology	9555	MACROH2A1	ORPHA:1275
HP:0002973	Abnormal forearm morphology	5307	PITX1	ORPHA:1275
HP:0002973	Abnormal forearm morphology	1717	DHCR7	ORPHA:818
HP:0002973	Abnormal forearm morphology	64327	LMBR1	ORPHA:93321
HP:0002973	Abnormal forearm morphology	6469	SHH	ORPHA:93321
HP:0002973	Abnormal forearm morphology	6154	RPL26	OMIM:614900
HP:0002973	Abnormal forearm morphology	7204	TRIO	ORPHA:476126
HP:0002973	Abnormal forearm morphology	5604	MAP2K1	ORPHA:1340
HP:0002973	Abnormal forearm morphology	5605	MAP2K2	ORPHA:1340
HP:0002973	Abnormal forearm morphology	673	BRAF	ORPHA:1340
HP:0002973	Abnormal forearm morphology	175	AGA	ORPHA:93
HP:0003083	Dislocated radial head	11285	B4GALT7	OMIM:130070
HP:0003083	Dislocated radial head	1182	CLCN3	OMIM:619512
HP:0003083	Dislocated radial head	85301	COL27A1	OMIM:615155
HP:0003083	Dislocated radial head	1387	CREBBP	OMIM:180849
HP:0003083	Dislocated radial head	2033	EP300	OMIM:180849
HP:0003083	Dislocated radial head	23233	EXOC6B	ORPHA:93359
HP:0003083	Dislocated radial head	23233	EXOC6B	OMIM:618395
HP:0003083	Dislocated radial head	126792	B3GALT6	ORPHA:93359
HP:0003083	Dislocated radial head	126792	B3GALT6	OMIM:271640
HP:0003083	Dislocated radial head	4010	LMX1B	ORPHA:2614
HP:0003083	Dislocated radial head	6885	MAP3K7	OMIM:617137
HP:0003083	Dislocated radial head	6885	MAP3K7	ORPHA:1826
HP:0003083	Dislocated radial head	145258	GSC	OMIM:602471
HP:0003083	Dislocated radial head	10847	SRCAP	OMIM:136140
HP:0003083	Dislocated radial head	10847	SRCAP	ORPHA:2044
HP:0003083	Dislocated radial head	91179	SCARF2	OMIM:600920
HP:0003083	Dislocated radial head	8318	CDC45	OMIM:617063
HP:0003083	Dislocated radial head	2137	EXTL3	OMIM:617425
HP:0003083	Dislocated radial head	6662	SOX9	OMIM:114290
HP:0003083	Dislocated radial head	10225	CD96	OMIM:211750
HP:0003083	Dislocated radial head	10225	CD96	ORPHA:1308
HP:0003083	Dislocated radial head	2067	ERCC1	OMIM:610758
HP:0003083	Dislocated radial head	2535	FZD2	OMIM:164745
HP:0003083	Dislocated radial head	4920	ROR2	OMIM:268310
HP:0003083	Dislocated radial head	1146	CHRNG	OMIM:265000
HP:0003083	Dislocated radial head	6497	SKI	OMIM:182212
HP:0003083	Dislocated radial head	2316	FLNA	OMIM:305620
HP:0003083	Dislocated radial head	2316	FLNA	ORPHA:1826
HP:0003083	Dislocated radial head	2316	FLNA	OMIM:311300
HP:0003083	Dislocated radial head	3835	KIF22	OMIM:603546
HP:0003083	Dislocated radial head	57492	ARID1B	OMIM:135900
HP:0003083	Dislocated radial head	3899	AFF3	OMIM:619297
HP:0003083	Dislocated radial head	9469	CHST3	OMIM:143095
HP:0003083	Dislocated radial head	9469	CHST3	OMIM:245600
HP:0003083	Dislocated radial head	4853	NOTCH2	OMIM:102500
HP:0003083	Dislocated radial head	25836	NIPBL	OMIM:122470
HP:0003083	Dislocated radial head	100151683	RNU4ATAC	ORPHA:1824
HP:0003083	Dislocated radial head	7474	WNT5A	OMIM:180700
HP:0003083	Dislocated radial head	1855	DVL1	OMIM:180700
HP:0003083	Dislocated radial head	9241	NOG	OMIM:186500
HP:0003083	Dislocated radial head	1277	COL1A1	ORPHA:287
HP:0003083	Dislocated radial head	1289	COL5A1	ORPHA:287
HP:0003083	Dislocated radial head	1290	COL5A2	ORPHA:287
HP:0003083	Dislocated radial head	26229	B3GAT3	OMIM:245600
HP:0003083	Dislocated radial head	3897	L1CAM	OMIM:304100
HP:0003083	Dislocated radial head	171023	ASXL1	OMIM:605039
HP:0003083	Dislocated radial head	6913	TBX15	OMIM:260660
HP:0003083	Dislocated radial head	91252	SLC39A13	OMIM:612350
HP:0003083	Dislocated radial head	545	ATR	OMIM:210600
HP:0003083	Dislocated radial head	649	BMP1	OMIM:614856
HP:0003083	Dislocated radial head	29980	DONSON	OMIM:617604
HP:0003083	Dislocated radial head	5573	PRKAR1A	OMIM:101800
HP:0003083	Dislocated radial head	10082	GPC6	OMIM:258315
HP:0003083	Dislocated radial head	387733	IFITM5	OMIM:610967
HP:0003083	Dislocated radial head	6473	SHOX	ORPHA:314795
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1718	DHCR24	OMIM:602398
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1718	DHCR24	ORPHA:35107
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23394	ADNP	ORPHA:404448
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51399	TRAPPC4	OMIM:618741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1139	CHRNA7	ORPHA:199318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51569	UFM1	OMIM:617899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10059	DNM1L	OMIM:614388
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6228	RPS23	OMIM:617412
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7360	UGP2	OMIM:618744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5932	RBBP8	OMIM:606744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5932	RBBP8	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283489	CHAMP1	OMIM:616579
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	478	ATP1A3	OMIM:619606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	478	ATP1A3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	166378	AFG2A	OMIM:616577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84520	GON7	OMIM:619603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79693	YRDC	OMIM:619609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	OMIM:616586
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	ORPHA:90348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	ORPHA:447760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	OMIM:616603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6884	TAF13	OMIM:617432
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6884	TAF13	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79029	AFG2B	OMIM:619616
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10111	RAD50	OMIM:613078
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85465	SELENOI	OMIM:618768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85465	SELENOI	ORPHA:506353
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5191	PEX7	OMIM:215100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:1865
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	OMIM:224410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	171023	ASXL1	ORPHA:97297
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	171023	ASXL1	OMIM:605039
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5813	PURA	ORPHA:438216
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89910	UBE3B	ORPHA:2707
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89910	UBE3B	OMIM:244450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5373	PMM2	OMIM:212065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1499	CTNNB1	ORPHA:404473
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1499	CTNNB1	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55131	RBM28	ORPHA:157954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55131	RBM28	OMIM:612079
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55768	NGLY1	OMIM:615273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55621	TRMT1	OMIM:618302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	OMIM:241410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	ORPHA:2323
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	ORPHA:93324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51633	OTUD6B	OMIM:617452
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51633	OTUD6B	ORPHA:505237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79718	TBL1XR1	OMIM:602342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54828	BCAS3	OMIM:619641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6305	SBF1	OMIM:615284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3800	KIF5C	OMIM:615282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2232	FDXR	ORPHA:543470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7358	UGDH	OMIM:618792
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113179	ADAT3	OMIM:615286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113179	ADAT3	ORPHA:363528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2904	GRIN2B	OMIM:616139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2904	GRIN2B	OMIM:613970
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200424	TET3	OMIM:618798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79971	WLS	OMIM:619648
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79728	PALB2	OMIM:610832
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79728	PALB2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56975	FAM20C	ORPHA:1832
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56975	FAM20C	OMIM:259775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5917	RARS1	OMIM:616140
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5917	RARS1	ORPHA:438114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54916	TMEM260	OMIM:617478
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58497	PRUNE1	OMIM:617481
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58497	PRUNE1	ORPHA:544469
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	120	ADD3	OMIM:617008
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5426	POLE	OMIM:618336
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3480	IGF1R	ORPHA:73273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3480	IGF1R	OMIM:270450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3479	IGF1	ORPHA:73272
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3479	IGF1	OMIM:608747
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3155	HMGCL	ORPHA:20
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3155	HMGCL	OMIM:246450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2775	GNAO1	OMIM:617493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2775	GNAO1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	OMIM:618346
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	OMIM:618347
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54517	PUS7	OMIM:618342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1798	DPAGT1	OMIM:608093
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1798	DPAGT1	ORPHA:86309
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	OMIM:618348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55746	NUP133	OMIM:618349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55746	NUP133	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56945	MRPS22	OMIM:611719
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56945	MRPS22	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27125	AFF4	ORPHA:444077
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27125	AFF4	OMIM:616368
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5575	PRKAR1B	OMIM:619680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5515	PPP2CA	OMIM:618354
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23114	NFASC	OMIM:618356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	154881	KCTD7	OMIM:611726
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	154881	KCTD7	ORPHA:263516
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55777	MBD5	OMIM:156200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55777	MBD5	ORPHA:228402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84340	GFM2	ORPHA:565624
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84340	GFM2	OMIM:618397
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10588	MTHFS	OMIM:618367
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22930	RAB3GAP1	OMIM:600118
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22930	RAB3GAP1	OMIM:619420
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22930	RAB3GAP1	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22930	RAB3GAP1	ORPHA:1387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2334	AFF2	OMIM:309548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92255	LMBRD2	OMIM:619694
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	267010	RNU12	OMIM:620208
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3054	HCFC1	OMIM:309541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201163	FLCN	OMIM:610883
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2019	EN1	OMIM:619218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3431	SP110	OMIM:235550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3431	SP110	ORPHA:79124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51608	GET4	OMIM:620200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7703	PCGF2	OMIM:618371
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23111	SPART	ORPHA:101000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6390	SDHB	OMIM:619224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11342	RNF13	OMIM:618379
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11342	RNF13	ORPHA:544503
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8802	SUCLG1	ORPHA:17
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4613	MYCN	OMIM:164280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4613	MYCN	ORPHA:391641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51729	WBP11	OMIM:619227
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6304	SATB1	OMIM:619228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6304	SATB1	OMIM:619229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	729920	CRPPA	ORPHA:370980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	729920	CRPPA	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2707	GJB3	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2531	KDSR	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	127534	GJB4	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3028	HSD17B10	ORPHA:391428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8943	AP3D1	OMIM:617050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	ORPHA:589618
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	OMIM:619934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	OMIM:617284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84265	POLR3GL	OMIM:619234
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134218	DNAJC21	OMIM:617052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27107	ZBTB11	OMIM:618383
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8452	CUL3	OMIM:619239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6608	SMO	OMIM:241800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1457	CSNK2A1	OMIM:617062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7204	TRIO	OMIM:617061
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203068	TUBB	OMIM:156610
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203068	TUBB	ORPHA:2505
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55640	FLVCR2	OMIM:225790
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23112	TNRC6B	OMIM:619243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91875	TTC5	OMIM:619244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8450	CUL4B	ORPHA:85293
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93587	TRMT10A	ORPHA:391408
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93587	TRMT10A	OMIM:616033
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84919	PPP1R15B	ORPHA:391408
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84919	PPP1R15B	OMIM:616817
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201595	STT3B	ORPHA:370924
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201595	STT3B	OMIM:615597
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10436	EMG1	OMIM:211180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10436	EMG1	ORPHA:1270
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6748	SSR4	ORPHA:370927
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6748	SSR4	OMIM:300934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	OMIM:309500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8242	KDM5C	ORPHA:85279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8242	KDM5C	OMIM:300534
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1315	COPB1	OMIM:619255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89970	RSPRY1	ORPHA:457395
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89970	RSPRY1	OMIM:616723
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	OMIM:612621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:544254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54187	NANS	OMIM:610442
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84464	SLX4	OMIM:613951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84464	SLX4	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	OMIM:610443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	ORPHA:363958
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	ORPHA:363965
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1968	EIF2S3	ORPHA:85282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1968	EIF2S3	OMIM:300148
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81615	TMEM163	OMIM:620243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64131	XYLT1	ORPHA:370930
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64131	XYLT1	OMIM:615777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116150	NUS1	OMIM:617082
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116150	NUS1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55181	SMG8	OMIM:619268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25886	POC1A	OMIM:614813
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3516	RBPJ	OMIM:614814
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5138	PDE2A	OMIM:619150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128	ADH5	OMIM:619151
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64374	SIL1	OMIM:248800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64374	SIL1	ORPHA:559
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6535	SLC6A8	OMIM:300352
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6535	SLC6A8	ORPHA:52503
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26960	NBEA	OMIM:619157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6309	SC5D	ORPHA:46059
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6309	SC5D	OMIM:607330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26128	KIFBP	OMIM:609460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26128	KIFBP	ORPHA:66629
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	781	CACNA2D1	OMIM:620149
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	781	CACNA2D1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7518	XRCC4	ORPHA:99812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7518	XRCC4	OMIM:616541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	ORPHA:99812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	ORPHA:235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	OMIM:606593
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80144	FRAS1	OMIM:219000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80144	FRAS1	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10093	ARPC4	OMIM:620141
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4784	NFIX	ORPHA:447980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	613	BCR	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1399	CRKL	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5594	MAPK1	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5594	MAPK1	OMIM:619087
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	224	ALDH3A2	ORPHA:816
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2314	FLII	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10743	RAI1	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10743	RAI1	ORPHA:1713
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10522	DEAF1	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10522	DEAF1	ORPHA:468620
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150468	CKAP2L	ORPHA:3255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150468	CKAP2L	OMIM:272440
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3242	HPD	OMIM:140350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	338657	CENATAC	OMIM:620153
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25778	DSTYK	OMIM:270750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	ORPHA:263501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	OMIM:613489
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	ORPHA:85172
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56992	KIF15	ORPHA:261323
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56992	KIF15	OMIM:619981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4718	NDUFC2	OMIM:619170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1738	DLD	ORPHA:2394
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1738	DLD	OMIM:246900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92579	G6PC3	OMIM:612541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93627	TBCK	OMIM:616900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93627	TBCK	ORPHA:488632
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	672	BRCA1	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	672	BRCA1	OMIM:617883
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10459	MAD2L2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10459	MAD2L2	OMIM:617243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7516	XRCC2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7516	XRCC2	OMIM:617247
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29089	UBE2T	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	675	BRCA2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	675	BRCA2	OMIM:605724
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55120	FANCL	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2177	FANCD2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2177	FANCD2	OMIM:227646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2175	FANCA	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2175	FANCA	OMIM:227650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2176	FANCC	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2176	FANCC	OMIM:227645
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2178	FANCE	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2178	FANCE	OMIM:600901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2188	FANCF	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2188	FANCF	OMIM:603467
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2189	FANCG	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2189	FANCG	OMIM:614082
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5888	RAD51	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5888	RAD51	OMIM:617244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5889	RAD51C	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55159	RFWD3	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55159	RFWD3	OMIM:617784
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83990	BRIP1	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57697	FANCM	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55215	FANCI	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55215	FANCI	OMIM:609053
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	ORPHA:847
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	OMIM:309580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	OMIM:301040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	222663	SCUBE3	OMIM:619184
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10367	MICU1	ORPHA:401768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10367	MICU1	OMIM:615673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23036	ZNF292	OMIM:619188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79867	TCTN2	OMIM:613885
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79867	TCTN2	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63894	VIPAS39	OMIM:613404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83879	CDCA7	OMIM:616910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25942	SIN3A	OMIM:613406
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25942	SIN3A	ORPHA:94065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53834	FGFRL1	OMIM:194190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54084	TSPEAR	OMIM:620173
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5447	POR	OMIM:201750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56006	SMG9	OMIM:616920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91754	NEK9	ORPHA:64754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84720	PIGO	OMIM:614749
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23345	SYNE1	ORPHA:319332
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3675	ITGA3	OMIM:614748
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23137	SMC5	OMIM:620185
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55343	SLC35C1	OMIM:266265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55343	SLC35C1	ORPHA:99843
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79759	ZNF668	OMIM:620194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1737	DLAT	OMIM:245348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1737	DLAT	ORPHA:79244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8050	PDHX	OMIM:245349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8050	PDHX	ORPHA:255182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	ORPHA:85201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	OMIM:606170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	OMIM:603736
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	ORPHA:3047
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6605	SMARCE1	OMIM:616938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6605	SMARCE1	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	388015	RTL1	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8788	DLK1	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55384	MEG3	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158	ADSL	ORPHA:46
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158	ADSL	OMIM:103050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	415	ARSL	OMIM:302950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81887	LAS1L	OMIM:309585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	545	ATR	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	545	ATR	OMIM:210600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1062	CENPE	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1062	CENPE	OMIM:616051
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	OMIM:210720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	ORPHA:2637
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79902	NUP85	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84126	ATRIP	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CENPJ	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CENPJ	OMIM:608393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CENPJ	OMIM:613676
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CENPJ	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10293	TRAIP	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10293	TRAIP	OMIM:616777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	OMIM:613823
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	OMIM:614852
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2961	GTF2E2	OMIM:616943
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2961	GTF2E2	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51567	TDP2	OMIM:616949
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6567	SLC16A2	ORPHA:59
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6567	SLC16A2	OMIM:300523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	OMIM:617800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	OMIM:619884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3897	L1CAM	ORPHA:1497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3897	L1CAM	OMIM:304100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3897	L1CAM	OMIM:303350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22907	DHX30	OMIM:617804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9990	SLC12A6	ORPHA:1496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9894	TELO2	OMIM:616954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9230	RAB11B	OMIM:617807
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10075	HUWE1	OMIM:309590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29123	ANKRD11	ORPHA:2332
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29123	ANKRD11	OMIM:148050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9759	HDAC4	ORPHA:1001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1806	DPYD	OMIM:274270
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1806	DPYD	ORPHA:1675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8085	KMT2D	ORPHA:2322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8085	KMT2D	OMIM:147920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7403	KDM6A	ORPHA:2322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7403	KDM6A	OMIM:300867
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7403	KDM6A	OMIM:147920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3097	HIVEP2	OMIM:616977
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54820	NDE1	OMIM:605013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9837	GINS1	OMIM:617827
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79840	NHEJ1	ORPHA:169079
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55906	ZC4H2	OMIM:314580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55906	ZC4H2	OMIM:301041
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6597	SMARCA4	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6597	SMARCA4	OMIM:614609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6598	SMARCB1	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6598	SMARCB1	OMIM:614608
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6659	SOX4	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6659	SOX4	OMIM:618506
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8289	ARID1A	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8289	ARID1A	OMIM:614607
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5977	DPF2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6601	SMARCC2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6602	SMARCD1	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	ORPHA:251056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	OMIM:135900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	196528	ARID2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6664	SOX11	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6664	SOX11	OMIM:615866
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134701	RIPPLY2	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10683	DLL3	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3955	LFNG	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84667	HES7	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145873	MESP2	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	ORPHA:2319
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	OMIM:268300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	OMIM:216100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	ORPHA:3103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197131	UBR1	ORPHA:2315
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197131	UBR1	OMIM:243800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5723	PSPH	ORPHA:79350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5723	PSPH	OMIM:614023
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64840	PORCN	OMIM:305600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55180	LINS1	OMIM:614340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80152	CENPT	OMIM:618702
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6697	SPR	ORPHA:70594
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6697	SPR	OMIM:612716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6134	RPL10	ORPHA:435938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6134	RPL10	OMIM:300998
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6134	RPL10	ORPHA:459070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	953	ENTPD1	OMIM:615683
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	953	ENTPD1	ORPHA:401810
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2893	GRIA4	OMIM:617864
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84628	NTNG2	OMIM:618718
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55691	FRMD4A	ORPHA:466688
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54802	TRIT1	OMIM:617873
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4724	NDUFS4	OMIM:252010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4724	NDUFS4	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84700	MYO18B	OMIM:616549
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8777	MPDZ	OMIM:615219
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1788	DNMT3A	OMIM:618724
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8086	AAAS	OMIM:231550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8086	AAAS	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2182	ACSL4	OMIM:300387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51075	TMX2	OMIM:618730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57647	DHX37	OMIM:618731
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65057	ACD	OMIM:616553
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65057	ACD	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51763	INPP5K	OMIM:617404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51763	INPP5K	ORPHA:559
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4281	MID1	ORPHA:2745
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4281	MID1	OMIM:300000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	246329	STAC3	OMIM:255995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8367	H4C5	OMIM:619950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	OMIM:615596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	OMIM:619714
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	ORPHA:370921
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6873	TAF2	OMIM:615599
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1947	EFNB1	ORPHA:1520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1355	COX15	OMIM:615119
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81857	MED25	OMIM:616449
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81857	MED25	ORPHA:464738
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5361	PLXNA1	OMIM:619955
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4047	LSS	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4047	LSS	OMIM:618840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197	AHSG	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3694	ITGB6	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3190	HNRNPK	ORPHA:453504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3190	HNRNPK	ORPHA:352665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6536	SLC6A9	OMIM:617301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2782	GNB1	ORPHA:488613
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65082	VPS33A	OMIM:617303
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10730	YME1L1	OMIM:617302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28960	DCPS	OMIM:616459
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51684	SUFU	ORPHA:280200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10559	SLC35A1	OMIM:603585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80153	EDC3	OMIM:616460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55870	ASH1L	OMIM:617796
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25885	POLR1A	OMIM:616462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91869	RFT1	ORPHA:244310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91869	RFT1	OMIM:612015
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	816	CAMK2B	OMIM:617799
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	815	CAMK2A	OMIM:617798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	547	KIF1A	ORPHA:2836
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	547	KIF1A	OMIM:614255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5155	PDGFB	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9213	XPR1	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5159	PDGFRB	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57462	MYORG	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6575	SLC20A2	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58494	JAM2	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23184	MESD	OMIM:618644
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55109	AGGF1	ORPHA:90308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2626	GATA4	ORPHA:251071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	652	BMP4	OMIM:607932
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	652	BMP4	ORPHA:139471
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1656	DDX6	OMIM:618653
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1501	CTNND2	ORPHA:281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9037	SEMA5A	ORPHA:281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26057	ANKRD17	OMIM:619504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3737	KCNA2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1759	DNM1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8120	AP3B2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8120	AP3B2	OMIM:617276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10991	SLC38A3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10991	SLC38A3	OMIM:619881
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51343	FZR1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22906	TRAK1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22906	TRAK1	OMIM:618201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2566	GABRG2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1917	EEF1A2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1917	EEF1A2	OMIM:616393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2561	GABRB2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7532	YWHAG	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79876	UBA5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	OMIM:617935
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	OMIM:617938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2558	GABRA5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2906	GRIN2D	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2906	GRIN2D	OMIM:617162
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10659	CELF2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	774	CACNA1B	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1213	CLTC	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23334	SZT2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51412	ACTL6B	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51412	ACTL6B	OMIM:618468
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51412	ACTL6B	OMIM:618470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348980	HCN1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348980	HCN1	OMIM:618482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6506	SLC1A2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6506	SLC1A2	OMIM:617105
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8867	SYNJ1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2258	FGF13	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3745	KCNB1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284111	SLC13A5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284111	SLC13A5	OMIM:615905
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25977	NECAP1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	16	AARS1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	16	AARS1	OMIM:616339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22866	CNKSR2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9568	GABBR2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9568	GABBR2	OMIM:617903
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2555	GABRA2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2555	GABRA2	OMIM:618557
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55152	DALRD3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55152	DALRD3	OMIM:618910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	773	CACNA1A	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26999	CYFIP2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26999	CYFIP2	OMIM:618008
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4915	NTRK2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25973	PARS2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23097	CDK19	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64801	ARV1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79947	DHDDS	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2257	FGF12	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5530	PPP3CA	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55623	THUMPD1	OMIM:619989
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57167	SALL4	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9935	MAFB	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1123	CHN1	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54888	NSUN2	ORPHA:235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54888	NSUN2	OMIM:611091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	253738	EBF3	OMIM:617330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29081	METTL5	OMIM:618665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29081	METTL5	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7862	BRPF1	OMIM:617333
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	286	ANK1	ORPHA:251066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5860	QDPR	ORPHA:226
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5860	QDPR	OMIM:261630
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7385	UQCRC2	OMIM:615160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7750	ZMYM2	OMIM:619522
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9922	IQSEC1	OMIM:618687
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85365	ALG2	OMIM:607906
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85365	ALG2	ORPHA:79326
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57479	PRR12	OMIM:619539
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2006	ELN	ORPHA:90348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2006	ELN	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5	ORPHA:90348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5	ORPHA:90349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5	OMIM:219100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4052	LTBP1	ORPHA:90349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	30008	EFEMP2	ORPHA:90349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	30008	EFEMP2	OMIM:614437
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	404672	GTF2H5	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	833	CARS1	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	833	CARS1	OMIM:618891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	136647	MPLKIP	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	136647	MPLKIP	OMIM:234050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6897	TARS1	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:220295
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	OMIM:610651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1173	AP2M1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6323	SCN1A	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340533	NEXMIF	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1106	CHD2	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6529	SLC6A1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29893	PSMC3IP	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	171568	POLR3H	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2516	NR5A1	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	125150	ZSWIM7	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9210	BMP15	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23514	SPIDR	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2492	FSHR	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	646	BNC1	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6576	SLC25A1	OMIM:615182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8621	CDK13	OMIM:617360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	133686	NADK2	OMIM:616034
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	133686	NADK2	ORPHA:431361
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5587	PRKD1	OMIM:617364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29968	PSAT1	OMIM:616038
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3736	KCNA1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9091	PIGQ	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81603	TRIM8	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81603	TRIM8	OMIM:619428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	OMIM:614254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	OMIM:619814
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	ORPHA:208447
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79751	SLC25A22	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150094	SIK1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23312	DMXL2	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2917	GRM7	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2917	GRM7	OMIM:618922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	OMIM:308350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	OMIM:300004
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	ORPHA:2508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	ORPHA:452
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6326	SCN2A	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51227	PIGP	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51227	PIGP	OMIM:617599
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6324	SCN1B	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4761	NEUROD2	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8803	SUCLA2	ORPHA:1933
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	ORPHA:239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	OMIM:223800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	OMIM:607326
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51750	RTEL1	OMIM:615190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51750	RTEL1	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10466	COG5	ORPHA:263487
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10466	COG5	OMIM:613612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	30000	TNPO2	OMIM:619556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	498	ATP5F1A	OMIM:616045
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	ORPHA:251028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	ORPHA:251019
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	OMIM:612313
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4729	NDUFV2	OMIM:618229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4729	NDUFV2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2627	GATA6	OMIM:600001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	OMIM:300887
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4695	NDUFA2	OMIM:618235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79868	ALG13	OMIM:300884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9179	AP4M1	OMIM:612936
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9179	AP4M1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3192	HNRNPU	OMIM:617391
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3192	HNRNPU	ORPHA:238769
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56915	EXOSC5	OMIM:619576
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	OMIM:300855
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	ORPHA:568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	OMIM:309800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11274	USP18	OMIM:617397
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340665	CYP26C1	ORPHA:398189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5831	PYCR1	OMIM:612940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92344	GORAB	OMIM:231070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6898	TAT	ORPHA:28378
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2898	GRIK2	OMIM:619580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80324	PUS1	OMIM:600462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80324	PUS1	ORPHA:2598
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9496	TBX4	ORPHA:261279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10524	KAT5	OMIM:619103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9451	EIF2AK3	OMIM:226980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9451	EIF2AK3	ORPHA:1667
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5277	PIGA	OMIM:300868
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5277	PIGA	OMIM:301072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8635	RNASET2	OMIM:612951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5000	ORC4	OMIM:613800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5000	ORC4	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4990	SIX6	OMIM:206900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81620	CDT1	OMIM:613804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81620	CDT1	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23594	ORC6	OMIM:613803
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23594	ORC6	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	990	CDC6	OMIM:613805
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	990	CDC6	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57003	CCDC47	OMIM:618268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10847	SRCAP	OMIM:619595
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55526	DHTKD1	OMIM:204750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1528	CYB5A	ORPHA:621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1727	CYB5R3	ORPHA:621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1727	CYB5R3	OMIM:250800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90522	YIF1B	OMIM:619125
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55755	CDK5RAP2	OMIM:604804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55755	CDK5RAP2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6472	SHMT2	OMIM:619121
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90416	CCDC32	OMIM:619123
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9895	TECPR2	ORPHA:320385
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9895	TECPR2	OMIM:615031
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3739	KCNA4	OMIM:618284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4683	NBN	ORPHA:647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4683	NBN	OMIM:251260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3735	KARS1	OMIM:619147
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8665	EIF3F	OMIM:618295
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221692	PHACTR1	OMIM:618298
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8517	IKBKG	OMIM:308300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10134	BCAP31	OMIM:300475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10134	BCAP31	ORPHA:369939
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3763	KCNJ6	ORPHA:435628
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3763	KCNJ6	OMIM:614098
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	341640	FREM2	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23426	GRIP1	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8506	CNTNAP1	OMIM:618186
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145173	B3GLCT	ORPHA:709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145173	B3GLCT	OMIM:261540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7109	TRAPPC10	OMIM:620027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7109	TRAPPC10	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55325	UFSP2	OMIM:620028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10274	STAG1	ORPHA:502434
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10274	STAG1	OMIM:617635
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1119	CHKA	OMIM:620023
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8496	PPFIBP1	OMIM:620024
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5111	PCNA	OMIM:615919
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5111	PCNA	ORPHA:438134
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2629	GBA1	OMIM:608013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57176	VARS2	OMIM:615917
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	183	AGT	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5972	REN	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	185	AGTR1	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1636	ACE	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54968	TMEM70	ORPHA:1194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5689	PSMB1	OMIM:620038
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23431	AP4E1	OMIM:613744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23431	AP4E1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25782	RAB3GAP2	OMIM:212720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25782	RAB3GAP2	OMIM:614225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25782	RAB3GAP2	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25782	RAB3GAP2	ORPHA:1387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10472	ZBTB18	ORPHA:36367
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10472	ZBTB18	OMIM:612337
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7298	TYMS	OMIM:620040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1351	COX8A	OMIM:619059
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100131801	PET100	OMIM:619055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5428	POLG	ORPHA:726
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7080	NKX2-1	ORPHA:209905
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4212	MEIS2	OMIM:600987
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4212	MEIS2	ORPHA:261190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26053	AUTS2	ORPHA:352490
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26053	AUTS2	OMIM:615834
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26005	C2CD3	OMIM:615948
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26005	C2CD3	ORPHA:434179
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10382	TUBB4A	OMIM:612438
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23265	EXOC7	OMIM:619072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1802	DPH2	OMIM:620062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	443	ASPA	OMIM:271900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	149371	EXOC8	OMIM:619076
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285175	UNC80	OMIM:616801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285175	UNC80	ORPHA:371364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83475	DOHH	OMIM:620066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92667	MGME1	ORPHA:352447
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92667	MGME1	OMIM:615084
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55027	HEATR3	OMIM:620072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5700	PSMC1	OMIM:620071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58508	KMT2C	ORPHA:261652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58508	KMT2C	OMIM:617768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4089	SMAD4	OMIM:139210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5591	PRKDC	OMIM:615966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25828	TXN2	OMIM:616811
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3187	HNRNPH1	OMIM:620083
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63895	PIEZO2	OMIM:248700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63895	PIEZO2	ORPHA:2461
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22880	MORC2	OMIM:619090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22880	MORC2	ORPHA:466768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4677	NARS1	OMIM:619091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4677	NARS1	OMIM:619092
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7355	SLC35A2	OMIM:300896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7355	SLC35A2	ORPHA:356961
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5073	PARN	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5073	PARN	OMIM:616353
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7015	TERT	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7015	TERT	OMIM:613989
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	OMIM:613990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1736	DKC1	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1736	DKC1	OMIM:305000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92154	MTSS2	OMIM:620086
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197322	ACSF3	ORPHA:289504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63925	ZNF335	ORPHA:329228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2702	GJA5	OMIM:612474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2703	GJA8	OMIM:612474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55690	PACS1	ORPHA:329224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51053	GMNN	OMIM:616835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51053	GMNN	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10664	CTCF	OMIM:615502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10664	CTCF	ORPHA:363611
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6307	MSMO1	OMIM:616834
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2200	FBN1	ORPHA:2462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	ORPHA:2462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	OMIM:182212
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1828	DSG1	OMIM:615508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3720	JARID2	OMIM:620098
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	579	NKX3-2	OMIM:613330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85358	SHANK3	OMIM:606232
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	549	AUH	ORPHA:67046
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55784	MCTP2	ORPHA:1596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6301	SARS1	OMIM:617709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55997	CFC1	OMIM:605376
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26224	FBXL3	OMIM:606220
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5925	RB1	ORPHA:1587
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27315	PGAP2	OMIM:614207
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83987	CCDC8	OMIM:614205
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80185	TTI2	OMIM:615541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80185	TTI2	ORPHA:391307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128989	TANGO2	OMIM:616878
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128989	TANGO2	ORPHA:480864
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55644	OSGEP	OMIM:617729
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55644	OSGEP	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57572	DOCK6	OMIM:614219
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22931	RAB18	OMIM:614222
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22931	RAB18	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23443	SLC35A3	OMIM:615553
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6925	TCF4	ORPHA:2896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6925	TCF4	OMIM:610954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	202018	TAPT1	OMIM:616897
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54805	CNNM2	OMIM:616418
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6591	SNAI2	ORPHA:2884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3815	KIT	ORPHA:2884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3756	KCNH1	ORPHA:420561
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1376	CPT2	OMIM:608836
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10717	AP4B1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10717	AP4B1	OMIM:614066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11154	AP4S1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11154	AP4S1	OMIM:614067
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9320	TRIP12	OMIM:617752
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5879	RAC1	OMIM:617751
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5879	RAC1	ORPHA:500159
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1663	DDX11	OMIM:613398
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2186	BPTF	OMIM:617755
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5430	POLR2A	OMIM:618603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22827	PUF60	OMIM:615583
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22827	PUF60	ORPHA:508498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26235	FBXL4	OMIM:615471
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23019	CNOT1	OMIM:618500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55823	VPS11	ORPHA:466934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55823	VPS11	OMIM:616683
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6777	STAT5B	OMIM:618985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4897	NRCAM	OMIM:619833
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23498	HAAO	OMIM:617660
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	161582	DNAAF4	OMIM:615482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65993	MRPS34	OMIM:617664
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80816	ASXL3	OMIM:615485
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80816	ASXL3	ORPHA:352577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8942	KYNU	OMIM:617661
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	387787	LIPT2	OMIM:617668
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1841	DTYMK	OMIM:619847
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3149	HMGB3	OMIM:300915
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2132	EXT2	ORPHA:466926
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2132	EXT2	OMIM:616682
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284403	WDR62	OMIM:604317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284403	WDR62	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	288	ANK3	OMIM:615493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23250	ATP11A	OMIM:619851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1020	CDK5	OMIM:616342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7994	KAT6A	ORPHA:457193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7994	KAT6A	OMIM:616268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1716	DGUOK	OMIM:251880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8550	MAPKAPK5	OMIM:619869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23007	PLCH1	ORPHA:93925
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23007	PLCH1	OMIM:619895
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	788	SLC25A20	ORPHA:159
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5518	PPP2R1A	OMIM:616362
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8558	CDK10	OMIM:617694
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51692	CPSF3	OMIM:619876
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116115	ZNF526	OMIM:619877
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2563	GABRD	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23013	SPEN	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23013	SPEN	OMIM:619312
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8510	MMP23B	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7798	LUZP1	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10630	PDPN	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10277	UBE4B	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63976	PRDM16	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54897	CASZ1	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1859	DYRK1A	ORPHA:464311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1859	DYRK1A	ORPHA:268261
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1859	DYRK1A	OMIM:614104
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285362	SUMF1	ORPHA:585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83479	DDX59	ORPHA:2919
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83479	DDX59	OMIM:174300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56098	PCDHGC4	OMIM:619880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4285	MIPEP	OMIM:617228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	641	BLM	OMIM:210900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79633	FAT4	ORPHA:314679
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8642	DCHS1	ORPHA:314679
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57192	MCOLN1	ORPHA:578
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57192	MCOLN1	OMIM:252650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5354	PLP1	OMIM:312080
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3798	KIF5A	OMIM:617235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57679	ALS2	OMIM:205100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57679	ALS2	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8565	YARS1	OMIM:619418
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374969	SVBP	OMIM:618569
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84295	PHF6	ORPHA:127
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84295	PHF6	OMIM:301900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6135	RPL11	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6138	RPL15	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6229	RPS24	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6125	RPL5	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6204	RPS10	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6224	RPS20	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6165	RPL35A	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2623	GATA1	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6223	RPS19	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6223	RPS19	OMIM:105650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6232	RPS27	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6231	RPS26	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11224	RPL35	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6160	RPL31	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6218	RPS17	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6201	RPS7	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6155	RPL27	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6154	RPL26	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6210	RPS15A	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90121	TSR2	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6141	RPL18	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6235	RPS29	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6234	RPS28	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51816	ADA2	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9742	IFT140	OMIM:266920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55656	INTS8	OMIM:618572
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	165918	RNF168	OMIM:611943
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	165918	RNF168	ORPHA:420741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51574	LARP7	OMIM:615071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	286053	NSMCE2	OMIM:617253
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84894	LINGO1	OMIM:618103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	160418	TMTC3	OMIM:617255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	123606	NIPA1	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7283	TUBG1	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7283	TUBG1	OMIM:615412
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81614	NIPA2	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8473	OGT	OMIM:300997
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6418	SET	OMIM:618106
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9526	MPDU1	OMIM:609180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1120	CHKB	OMIM:602541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7707	ZNF148	OMIM:617260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6299	SALL1	OMIM:107480
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3778	KCNMA1	OMIM:618596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112939	NACC1	ORPHA:500545
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	OMIM:261600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	ORPHA:79254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	ORPHA:2209
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4041	LRP5	OMIM:259770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4041	LRP5	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3039	HBA1	ORPHA:98791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3040	HBA2	ORPHA:98791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51132	RLIM	OMIM:300978
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4998	ORC1	OMIM:224690
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4998	ORC1	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27341	RRP7A	OMIM:619453
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3376	IARS1	ORPHA:541423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5077	PAX3	OMIM:148820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5077	PAX3	ORPHA:896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	ORPHA:568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	OMIM:300166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	OMIM:309800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6821	SUOX	OMIM:272300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	538	ATP7A	ORPHA:565
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	538	ATP7A	OMIM:309400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84314	TMEM107	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80776	B9D2	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79600	TCTN1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57096	RPGRIP1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79848	CSPP1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79583	TMEM231	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79770	TXNDC15	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27077	B9D1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23258	DENND5A	OMIM:617281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92949	ADAMTSL1	ORPHA:521445
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84065	TMEM222	OMIM:619470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57187	THOC2	OMIM:300957
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57187	THOC2	ORPHA:457240
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10526	IPO8	OMIM:619472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348180	CTU2	OMIM:618142
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55651	NHP2	OMIM:224230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55505	NOP10	OMIM:224230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6711	SPTBN1	OMIM:619475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3643	INSR	ORPHA:508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2131	EXT1	ORPHA:502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7227	TRPS1	ORPHA:502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6872	TAF1	OMIM:300966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6872	TAF1	ORPHA:480907
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374879	ZNF699	OMIM:619488
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60676	PAPPA2	OMIM:619489
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1654	DDX3X	OMIM:300958
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1654	DDX3X	ORPHA:457260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7284	TUFM	OMIM:610678
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	407975	MIR17HG	ORPHA:391646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55599	RNPC3	OMIM:618160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5805	PTS	OMIM:261640
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63899	NSUN3	OMIM:619012
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7157	TP53	OMIM:618165
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2193	FARSA	OMIM:619013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5557	PRIM1	OMIM:620005
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84081	NSRP1	OMIM:620001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54936	ADPRS	OMIM:618170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64432	MRPS25	OMIM:619025
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84842	HPDL	OMIM:619026
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51002	TPRKB	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112858	TP53RK	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8270	LAGE3	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55294	FBXW7	OMIM:620012
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1183	CLCN4	OMIM:300114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1183	CLCN4	ORPHA:485350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	123263	MTFMT	OMIM:614947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10667	FARS2	OMIM:614946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80232	WDR26	ORPHA:513456
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4010	LMX1B	ORPHA:495818
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6812	STXBP1	ORPHA:495818
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4552	MTRR	ORPHA:2169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80055	PGAP1	OMIM:615802
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57582	KCNT1	OMIM:614959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10225	CD96	OMIM:211750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10225	CD96	ORPHA:1308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1763	DNA2	OMIM:615807
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8913	CACNA1G	OMIM:618087
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80204	FBXO11	OMIM:618089
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1509	CTSD	OMIM:610127
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23325	WASHC4	OMIM:615817
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57531	HACE1	ORPHA:464282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57531	HACE1	OMIM:616756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7156	TOP3A	OMIM:618097
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1009	CDH11	ORPHA:1299
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54496	PRMT7	ORPHA:464288
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54496	PRMT7	OMIM:617157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5063	PAK3	OMIM:300558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10056	FARSB	OMIM:613658
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54499	TMCO1	OMIM:213980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440138	ALG11	OMIM:613661
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440138	ALG11	ORPHA:280071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8481	OFD1	OMIM:311200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5422	POLA1	ORPHA:163976
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5422	POLA1	OMIM:301030
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51067	YARS2	ORPHA:2598
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28962	OSTM1	OMIM:259720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79228	THOC6	OMIM:613680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2033	EP300	OMIM:613684
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2033	EP300	OMIM:180849
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5830	PEX5	OMIM:616716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5830	PEX5	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5648	MASP1	OMIM:257920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26115	TANC2	OMIM:618906
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55593	OTUD5	OMIM:301056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5160	PDHA1	OMIM:312170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5160	PDHA1	ORPHA:79243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54101	RIPK4	ORPHA:1234
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10982	MAPRE2	OMIM:616734
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10982	MAPRE2	ORPHA:2505
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3176	HNMT	OMIM:616739
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4131	MAP1B	OMIM:618918
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1778	DYNC1H1	OMIM:614563
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3796	KIF2A	OMIM:615411
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1911	PHC1	OMIM:615414
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1911	PHC1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259232	NALCN	OMIM:615419
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259232	NALCN	ORPHA:371364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3759	KCNJ2	OMIM:170390
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100506658	OCLN	ORPHA:1229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100506658	OCLN	OMIM:251290
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3052	HCCS	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3052	HCCS	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57511	COG6	OMIM:614576
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57511	COG6	OMIM:615328
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83696	TRAPPC9	ORPHA:352530
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29980	DONSON	OMIM:617604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29980	DONSON	OMIM:251230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84172	POLR1B	OMIM:618939
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157680	VPS13B	ORPHA:193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157680	VPS13B	OMIM:216550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81689	ISCA1	OMIM:617613
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1861	TOR1A	OMIM:618947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64857	PLEKHG2	OMIM:616763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51520	LARS1	OMIM:615438
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4329	ALDH6A1	OMIM:614105
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80781	COL18A1	OMIM:267750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7343	UBTF	ORPHA:500180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55617	TASP1	OMIM:618950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60528	ELAC2	OMIM:615440
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28957	MRPS28	OMIM:618958
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3832	KIF11	ORPHA:2526
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3832	KIF11	OMIM:152950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259266	ASPM	OMIM:608716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259266	ASPM	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7991	TUSC3	OMIM:611093
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4763	NF1	ORPHA:139474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1804	DPP6	ORPHA:2514
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1804	DPP6	OMIM:616311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8192	CLPP	OMIM:614129
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4621	MYH3	ORPHA:2990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4621	MYH3	OMIM:178110
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4621	MYH3	OMIM:193700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1146	CHRNG	ORPHA:2990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128637	TBC1D20	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11113	CIT	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55262	TRAPPC14	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	163786	SASS6	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4176	MCM7	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80254	CEP63	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23310	NCAPD3	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23310	NCAPD3	OMIM:617984
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79648	MCPH1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23141	ANKLE2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9662	CEP135	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57082	KNL1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1021	CDK6	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55367	PIDD1	OMIM:619827
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10749	KIF1C	ORPHA:397946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25915	NDUFAF3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51103	NDUFAF1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91942	NDUFAF2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51300	TIMMDC1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4716	NDUFB10	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4723	NDUFV1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55572	FOXRED1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284184	NDUFAF8	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55863	TMEM126B	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4535	MT-ND1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4537	MT-ND3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4694	NDUFA1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4720	NDUFS2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4726	NDUFS6	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4728	NDUFS8	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4722	NDUFS3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	126328	NDUFA11	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4709	NDUFB3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80224	NUBPL	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29078	NDUFAF4	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374291	NDUFS7	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4700	NDUFA6	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4536	MT-ND2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4715	NDUFB9	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	104	ADARB1	OMIM:618862
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	OMIM:615356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	ORPHA:369840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3020	H3-3A	OMIM:619720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3021	H3-3B	OMIM:619721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10300	KATNB1	OMIM:616212
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4056	LTC4S	OMIM:614037
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	72	ACTG2	ORPHA:2604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	472	ATM	OMIM:208900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5610	EIF2AK2	OMIM:618877
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3781	KCNN2	OMIM:619725
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	137492	VPS37A	ORPHA:319199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2590	GALNT2	OMIM:618885
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51319	RSRC1	OMIM:618402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23761	PISD	OMIM:618889
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55703	POLR3B	OMIM:619742
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5442	POLRMT	OMIM:619743
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4297	KMT2A	ORPHA:319182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4297	KMT2A	OMIM:605130
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25930	PTPN23	OMIM:618890
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79731	NARS2	OMIM:616239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	339983	NAT8L	OMIM:614063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8879	SGPL1	OMIM:617575
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8021	NUP214	OMIM:618426
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8364	H4C3	OMIM:619758
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145258	GSC	OMIM:602471
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53335	BCL11A	OMIM:617101
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9993	DGCR2	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8220	ESS2	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8214	DGCR6	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54487	DGCR8	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2271	FH	OMIM:606812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23162	MAPK8IP3	OMIM:618443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10463	SLC30A9	OMIM:617595
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80173	IFT74	OMIM:617119
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8295	TRRAP	OMIM:618454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81570	CLPB	OMIM:616271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6878	TAF6	OMIM:617126
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84706	GPT2	OMIM:616281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84706	GPT2	ORPHA:477673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54892	NCAPG2	OMIM:618460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51728	POLR3K	OMIM:619310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85476	GFM1	OMIM:609060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6650	CAPN15	OMIM:619318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221496	LEMD2	OMIM:619322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29998	BICRA	OMIM:619325
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8882	ZPR1	OMIM:619321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84892	POMGNT2	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1282	COL4A1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10329	RXYLT1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1605	DAG1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8869	ST3GAL5	OMIM:609056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23221	RHOBTB2	OMIM:618004
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2530	FUT8	OMIM:618005
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79641	ROGDI	OMIM:226750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7965	AIMP2	OMIM:618006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1781	DYNC1I2	OMIM:618492
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8091	HMGA2	ORPHA:94063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23592	LEMD3	ORPHA:94063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26276	VPS33B	OMIM:208085
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	372	ARCN1	OMIM:617164
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54681	P4HTM	OMIM:618493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60386	SLC25A19	ORPHA:99742
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9791	PTDSS1	OMIM:151050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	37	ACADVL	OMIM:201475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5281	PIGF	OMIM:619356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1387	CREBBP	OMIM:180849
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57514	ARHGAP31	OMIM:100300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29926	GMPPA	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10681	GNB5	OMIM:617182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79143	MBOAT7	OMIM:617188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5080	PAX6	ORPHA:893
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	627	BDNF	ORPHA:893
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7490	WT1	ORPHA:893
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6904	TBCD	OMIM:617193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23554	TSPAN12	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79797	ZNF408	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8322	FZD4	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2733	GLE1	OMIM:611890
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11011	TLK2	OMIM:618050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4702	NDUFA8	OMIM:619272
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27183	VPS4A	OMIM:619273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10128	LRPPRC	OMIM:220111
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81555	YIPF5	OMIM:619278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55532	SLC30A10	ORPHA:309854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8443	GNPAT	OMIM:222765
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9442	MED27	OMIM:619286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64324	NSD1	ORPHA:228415
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3899	AFF3	OMIM:619297
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	36	ACADSB	OMIM:610006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8546	AP3B1	OMIM:608233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51199	NIN	OMIM:614851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51199	NIN	ORPHA:319675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4338	MOCS2	OMIM:252160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197257	LDHD	OMIM:245450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9255	AIMP1	OMIM:260600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6804	STX1A	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7461	CLIP2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84277	DNAJC30	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8468	FKBP6	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5982	RFC2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2969	GTF2I	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3984	LIMK1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9569	GTF2IRD1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	155382	VPS37D	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	155368	METTL27	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114049	BUD23	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7458	EIF4H	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84163	GTF2IRD2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9275	BCL7B	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26608	TBL2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	653361	NCF1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	135886	TMEM270	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51085	MLXIPL	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9031	BAZ1B	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27286	SRPX2	ORPHA:98889
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	375748	ERCC6L2	OMIM:615715
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93210	PGAP3	OMIM:615716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2521	FUS	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80208	SPG11	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10280	SIGMAR1	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10558	SPTLC1	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6628	SNRPB	ORPHA:1393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6628	SNRPB	OMIM:117650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	162417	NAGS	ORPHA:927
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50628	GEMIN4	OMIM:617913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5824	PEX19	OMIM:614886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5824	PEX19	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	867	CBL	OMIM:613563
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55670	PEX26	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5828	PEX2	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8504	PEX3	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8799	PEX11B	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9409	PEX16	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5190	PEX6	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5189	PEX1	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5193	PEX12	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5194	PEX13	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5195	PEX14	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5192	PEX10	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7507	XPA	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7507	XPA	OMIM:278700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7508	XPC	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1643	DDB2	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4173	MCM4	OMIM:609981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55187	VPS13D	OMIM:607317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10157	AASS	ORPHA:2203
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79631	EFL1	OMIM:617941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5429	POLH	OMIM:278750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2058	EPRS1	OMIM:617951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1063	CENPF	OMIM:243605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9361	LONP1	ORPHA:79243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	20	ABCA2	OMIM:618808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91647	ATPAF2	OMIM:604273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1729	DIAPH1	OMIM:616632
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	175	AGA	OMIM:208400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9419	CRIPT	OMIM:615789
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27010	TPK1	OMIM:614458
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2584	GALK1	ORPHA:79237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7874	USP7	ORPHA:500055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11019	LIAS	OMIM:614462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4337	MOCS1	OMIM:252150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29957	SLC25A24	OMIM:612289
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3704	ITPA	OMIM:616647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54870	QRICH1	OMIM:617982
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6911	TBX6	ORPHA:1797
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23397	NCAPH	OMIM:617985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54676	GTPBP2	OMIM:617988
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158326	FREM1	OMIM:614485
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200205	IBA57	OMIM:615330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25974	MMACHC	ORPHA:79282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25974	MMACHC	OMIM:277400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23133	PHF8	OMIM:300263
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51733	UPB1	OMIM:613161
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23001	WDFY3	OMIM:617520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79587	CARS2	OMIM:616672
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	35	ACADS	ORPHA:26792
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55753	OGDHL	OMIM:619701
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5052	PRDX1	OMIM:277400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4204	MECP2	OMIM:300673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4204	MECP2	ORPHA:778
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6792	CDKL5	OMIM:300672
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1267	CNP	OMIM:619071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10617	STAMBP	OMIM:614261
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91452	ACBD5	OMIM:618863
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84879	MFSD2A	OMIM:616486
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7737	RNF113A	OMIM:300953
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51660	MPC1	OMIM:614741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1161	ERCC8	ORPHA:90324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10564	ARFGEF2	OMIM:608097
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2290	FOXG1	OMIM:613454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4719	NDUFS1	OMIM:618226
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55627	SMPD4	OMIM:618622
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8818	DPM2	ORPHA:329178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51091	SEPSECS	OMIM:613811
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51091	SEPSECS	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22845	DOLK	ORPHA:91131
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132158	GLYCTK	ORPHA:941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56052	ALG1	ORPHA:79327
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79796	ALG9	ORPHA:79328
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4247	MGAT2	ORPHA:79329
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8318	CDC45	OMIM:617063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	122553	TRAPPC6B	OMIM:617862
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5859	QARS1	OMIM:615760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9326	ZNHIT3	OMIM:260565
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51741	WWOX	OMIM:616211
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79042	TSEN34	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80746	TSEN2	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80746	TSEN2	OMIM:612389
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57688	ZSWIM6	OMIM:617865
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2137	EXTL3	OMIM:617425
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55704	CCDC88A	OMIM:617507
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	998	CDC42	OMIM:616737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6334	SCN8A	OMIM:614558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50	ACO2	OMIM:614559
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57038	RARS2	OMIM:611523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6509	SLC1A4	OMIM:616657
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10978	CLP1	OMIM:615803
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54862	CC2D1A	OMIM:608443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9382	COG1	OMIM:611209
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9382	COG1	ORPHA:263508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2891	GRIA2	OMIM:618917
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23065	EMC1	ORPHA:480898
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63908	NAPB	OMIM:620033
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9342	SNAP29	OMIM:609528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51651	PTRH2	OMIM:616263
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23545	ATP6V0A2	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23545	ATP6V0A2	ORPHA:2834
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23545	ATP6V0A2	OMIM:278250
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	523	ATP6V1A	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	529	ATP6V1E1	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5538	PPT1	OMIM:256730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6709	SPTAN1	OMIM:613477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55275	VPS53	OMIM:615851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203190	LGI3	OMIM:620007
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2806	GOT2	OMIM:618721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51294	PCDH12	OMIM:251280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29920	PYCR2	ORPHA:481152
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5048	PAFAH1B1	ORPHA:95232
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3913	LAMB2	OMIM:609049
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83480	PUS3	ORPHA:488627
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79087	ALG12	ORPHA:79324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79087	ALG12	OMIM:607143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2801	GOLGA2	OMIM:620240
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23096	IQSEC2	ORPHA:397933
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55163	PNPO	OMIM:610090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84188	FAR1	ORPHA:438178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10844	TUBGCP2	OMIM:618737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221927	BRAT1	OMIM:614498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84342	COG8	ORPHA:95428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11284	PNKP	OMIM:613402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7407	VARS1	OMIM:617802
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9343	EFTUD2	OMIM:610536
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23516	SLC39A14	ORPHA:521406
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6513	SLC2A1	ORPHA:71277
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2077	ERF	OMIM:600775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8022	LHX3	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	220	ALDH1A3	OMIM:615113
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	775	CACNA1C	OMIM:620029
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84282	RNF135	ORPHA:137634
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51807	TUBA8	ORPHA:250972
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8854	ALDH1A2	OMIM:620025
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8405	SPOP	OMIM:618828
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5293	PIK3CD	ORPHA:221139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90417	KNSTRN	ORPHA:221139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55210	ATAD3A	ORPHA:496790
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57459	GATAD2B	ORPHA:363686
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5605	MAP2K2	OMIM:615280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5500	PPP1CB	OMIM:617506
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9968	MED12	ORPHA:93932
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9401	RECQL4	OMIM:218600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4747	NEFL	ORPHA:101085
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3476	IGBP1	OMIM:300472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3476	IGBP1	ORPHA:52055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1024	CDK8	OMIM:618748
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10992	SF3B2	OMIM:164210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2731	GLDC	OMIM:605899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	275	AMT	OMIM:605899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55112	DYNC2I1	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57560	IFT80	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57539	WDR35	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79659	DYNC2H1	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79659	DYNC2H1	OMIM:613091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89891	DYNC2I2	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4867	NPHP1	ORPHA:220497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54806	AHI1	ORPHA:220493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	95681	CEP41	ORPHA:220493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2263	FGFR2	ORPHA:87
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2263	FGFR2	OMIM:123790
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2263	FGFR2	OMIM:101200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5173	PDYN	OMIM:610245
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22872	SEC31A	OMIM:618651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55012	PPP2R3C	OMIM:618419
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51021	MRPS16	OMIM:610498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	129563	DIS3L2	OMIM:267000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23512	SUZ12	OMIM:618786
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4519	MT-CYB	ORPHA:137675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6558	SLC12A2	OMIM:619083
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2239	GPC4	ORPHA:373
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2239	GPC4	OMIM:312870
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2719	GPC3	ORPHA:373
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2719	GPC3	OMIM:312870
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197258	FCSK	OMIM:618324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2678	GGT1	OMIM:231950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64919	BCL11B	OMIM:617237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11023	VAX1	OMIM:614402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	257	ALX3	OMIM:136760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55280	CWF19L1	ORPHA:453521
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	164	AP1G1	OMIM:619548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1801	DPH1	ORPHA:459061
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10126	DNAL4	ORPHA:238722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9423	NTN1	ORPHA:238722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56896	DPYSL5	OMIM:619435
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2879	GPX4	ORPHA:93317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23030	KDM4B	OMIM:619320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3313	HSPA9	OMIM:616854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2657	GDF1	OMIM:208530
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1000	CDH2	OMIM:618929
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1583	CYP11A1	ORPHA:289548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1583	CYP11A1	ORPHA:168558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2009	EML1	OMIM:600348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5395	PMS2	OMIM:619101
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2313	FLI1	ORPHA:2308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8092	ALX1	ORPHA:306542
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4659	PPP1R12A	OMIM:618820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80210	ARMC9	OMIM:617622
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113246	C12orf57	OMIM:218340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4781	NFIB	OMIM:618286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4292	MLH1	OMIM:276300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	18	ABAT	OMIM:613163
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8449	DHX16	OMIM:618733
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26275	HIBCH	OMIM:250620
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79068	FTO	OMIM:612938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5340	PLG	ORPHA:722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5340	PLG	OMIM:217090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	OMIM:267010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	OMIM:208540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	ORPHA:3032
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2683	B4GALT1	OMIM:607091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2683	B4GALT1	ORPHA:79332
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10804	GJB6	ORPHA:477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2706	GJB2	ORPHA:477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4927	NUP88	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4654	MYOD1	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4593	MUSK	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5913	RAPSN	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6572	SLC18A3	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285489	DOK7	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51524	TMEM138	OMIM:614465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4534	MTM1	OMIM:310400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2121	EVC	OMIM:225500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132884	EVC2	OMIM:225500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1028	CDKN1C	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10984	KCNQ1OT1	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3481	IGF2	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3784	KCNQ1	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23241	PACS2	OMIM:618067
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26160	IFT172	OMIM:615630
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219854	TMEM218	OMIM:619562
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219854	TMEM218	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79644	SRD5A3	OMIM:612379
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10501	SEMA6B	OMIM:618876
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23090	ZNF423	OMIM:614844
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23090	ZNF423	ORPHA:2318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22897	CEP164	OMIM:614845
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54974	THG1L	OMIM:618800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	127833	SYT2	OMIM:619461
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	492	ATP2B3	ORPHA:314978
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2296	FOXC1	OMIM:602482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2296	FOXC1	OMIM:601631
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8241	RBM10	OMIM:311900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200894	ARL13B	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9731	CEP104	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23247	KATNIP	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23247	KATNIP	OMIM:616784
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10464	PIBF1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25776	CBY1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	403	ARL3	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	403	ARL3	OMIM:618161
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4352	MPL	OMIM:604498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4361	MRE11	ORPHA:251347
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51611	DPH5	OMIM:620070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3708	ITPR1	OMIM:117360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57020	VPS35L	OMIM:619135
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9939	RBM8A	OMIM:274000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11253	MAN1B1	ORPHA:397941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11253	MAN1B1	OMIM:614202
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83700	JAM3	OMIM:613730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85300	ATCAY	ORPHA:94122
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85300	ATCAY	OMIM:601238
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51506	UFC1	OMIM:618076
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6507	SLC1A3	OMIM:612656
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	535	ATP6V0A1	OMIM:619971
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6773	STAT2	OMIM:618886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10939	AFG3L2	ORPHA:313772
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55154	MSTO1	ORPHA:502423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10013	HDAC6	ORPHA:163966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8733	GPAA1	ORPHA:529665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8733	GPAA1	OMIM:617810
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9474	ATG5	OMIM:617584
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	125988	MICOS13	OMIM:618329
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2146	EZH2	OMIM:277590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29929	ALG6	ORPHA:79320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51117	COQ4	OMIM:616276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7012	TERC	OMIM:127550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7547	ZIC3	OMIM:306955
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26007	TKFC	OMIM:618805
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6712	SPTBN2	OMIM:600224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3188	HNRNPH2	OMIM:300986
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7291	TWIST1	OMIM:617746
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55074	OXR1	OMIM:213000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2615	LRRC32	OMIM:619074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6938	TCF12	OMIM:615314
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11198	SUPT16H	OMIM:619480
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4036	LRP2	OMIM:222448
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	139285	AMER1	OMIM:300373
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7143	TNR	OMIM:619653
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4123	MAN2C1	OMIM:619775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51362	CDC40	OMIM:619302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5274	SERPINI1	OMIM:604218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1497	CTNS	OMIM:219800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	199857	ALG14	OMIM:619036
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51102	MECR	ORPHA:508093
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1786	DNMT1	ORPHA:314404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1786	DNMT1	OMIM:614116
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	162	AP1B1	OMIM:242150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54982	CLN6	OMIM:204300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54476	RNF216	OMIM:212840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7345	UCHL1	OMIM:615491
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5105	PCK1	OMIM:261680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64207	IRF2BPL	OMIM:618088
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55037	PTCD3	OMIM:619057
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7084	TK2	OMIM:609560
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7084	TK2	ORPHA:254886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	OMIM:610003
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	ORPHA:1947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	OMIM:600143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8772	FADD	OMIM:613759
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8772	FADD	ORPHA:306550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54675	CRLS1	OMIM:620167
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5095	PCCA	OMIM:606054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5096	PCCB	OMIM:606054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1327	COX4I1	OMIM:619060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5833	PCYT2	OMIM:618770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1201	CLN3	OMIM:204200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5826	ABCD4	OMIM:614857
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92609	TIMM50	OMIM:617698
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92609	TIMM50	ORPHA:505216
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10531	PITRM1	OMIM:619405
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	256471	MFSD8	OMIM:610951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11152	WDR45	OMIM:300894
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11152	WDR45	ORPHA:329284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55739	NAXD	OMIM:618321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	339855	KY	ORPHA:496689
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29960	MRM2	OMIM:618567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23219	FBXO28	OMIM:619777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23189	KANK1	OMIM:612900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8813	DPM1	ORPHA:79322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6314	ATXN7	ORPHA:94147
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26100	WIPI2	OMIM:618453
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10533	ATG7	OMIM:619422
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51693	TRAPPC2L	OMIM:618331
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57017	COQ9	OMIM:614654
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7167	TPI1	OMIM:615512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132	ADK	OMIM:614300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53616	ADAM22	OMIM:617933
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57520	HECW2	OMIM:617268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54822	TRPM7	OMIM:105500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1760	DMPK	OMIM:160900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5934	RBL2	OMIM:619690
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79709	COLGALT1	OMIM:618360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5071	PRKN	OMIM:600116
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4704	NDUFA9	OMIM:618247
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23732	FRRS1L	OMIM:616981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29940	DSE	OMIM:615539
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5611	DNAJC3	OMIM:616192
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5611	DNAJC3	ORPHA:445062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84896	ATAD1	OMIM:618011
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	220296	HEPACAM	OMIM:613925
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4548	MTR	OMIM:250940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51095	TRNT1	OMIM:616084
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57468	SLC12A5	OMIM:616645
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2517	FUCA1	OMIM:230000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23040	MYT1L	OMIM:616521
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203228	C9orf72	OMIM:105550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2760	GM2A	ORPHA:309246
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2760	GM2A	OMIM:272750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51715	RAB23	OMIM:201000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1200	TPP1	OMIM:204500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6663	SOX10	OMIM:609136
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	617	BCS1L	OMIM:124000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84231	TRAF7	OMIM:618164
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26503	SLC17A5	OMIM:269920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9197	SLC33A1	OMIM:614482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	727676	SNORD118	ORPHA:542310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1719	DHFR	OMIM:613839
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22868	FASTKD2	OMIM:618855
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7528	YY1	ORPHA:506358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29899	GPSM2	OMIM:604213
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8036	SHOC2	OMIM:607721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9853	RUSC2	OMIM:617773
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	343450	KCNT2	OMIM:617771
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10159	ATP6AP2	ORPHA:93952
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10159	ATP6AP2	OMIM:300423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116931	MED12L	OMIM:618872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27245	AHDC1	ORPHA:412069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27245	AHDC1	OMIM:615829
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	375387	NRROS	OMIM:618875
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6844	VAMP2	OMIM:618760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11232	POLG2	OMIM:618528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23327	NEDD4L	OMIM:617201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2903	GRIN2A	ORPHA:289266
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2903	GRIN2A	ORPHA:163721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57178	ZMIZ1	OMIM:618659
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26040	SETBP1	OMIM:269150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26040	SETBP1	ORPHA:798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113612	CYP2U1	OMIM:615030
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113612	CYP2U1	ORPHA:320411
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	OMIM:615035
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	ORPHA:320375
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	ORPHA:254930
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84504	NKX6-2	ORPHA:527497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23259	DDHD2	OMIM:615033
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23259	DDHD2	ORPHA:320380
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7531	YWHAE	ORPHA:217385
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7531	YWHAE	ORPHA:531
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3098	HK1	OMIM:618547
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26137	ZBTB20	OMIM:259050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9533	POLR1C	OMIM:616494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1615	DARS1	OMIM:615281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	253959	RALGAPA1	OMIM:618797
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51098	IFT52	OMIM:617102
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4849	CNOT3	OMIM:618672
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7841	MOGS	ORPHA:79330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7841	MOGS	OMIM:606056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3785	KCNQ2	ORPHA:439218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3785	KCNQ2	OMIM:613720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51062	ATL1	OMIM:182600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79053	ALG8	ORPHA:79325
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7040	TGFB1	OMIM:618213
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5881	RAC3	OMIM:618577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27429	HTRA2	OMIM:617248
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55770	EXOC2	OMIM:619306
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9488	PIGB	OMIM:618580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3912	LAMB1	OMIM:615191
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4558	MT-TF	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4572	MT-TQ	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4512	MT-CO1	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4513	MT-CO2	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4514	MT-CO3	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4578	MT-TW	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4540	MT-ND5	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4541	MT-ND6	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4538	MT-ND4	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4574	MT-TS1	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4575	MT-TS2	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4564	MT-TH	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10765	KDM5B	OMIM:618109
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2671	GFER	ORPHA:330054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11160	ERLIN2	ORPHA:209951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11160	ERLIN2	OMIM:611225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128869	PIGU	OMIM:618590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5631	PRPS1	ORPHA:423479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55610	VPS50	OMIM:619685
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6651	SON	OMIM:617140
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6651	SON	ORPHA:500150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5660	PSAP	OMIM:611721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22796	COG2	OMIM:617395
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22796	COG2	ORPHA:435934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2560	GABRB1	OMIM:617153
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51324	SPG21	ORPHA:101001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7161	TP73	OMIM:619466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9758	FRMPD4	OMIM:300983
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1822	ATN1	OMIM:618494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8883	NAE1	OMIM:620210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50801	KCNK4	OMIM:618381
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9851	KIAA0753	OMIM:619479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2892	GRIA3	ORPHA:364028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2571	GAD1	OMIM:619124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2222	FDFT1	OMIM:618156
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285590	SH3PXD2B	OMIM:249420
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374354	NHLRC2	OMIM:618278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79152	FA2H	ORPHA:171629
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79152	FA2H	ORPHA:329308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79152	FA2H	OMIM:612319
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	118924	FRA10AC1	OMIM:620113
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8911	CACNA1I	OMIM:620114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3090	HIC1	ORPHA:531
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55005	RMND1	OMIM:614922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124454	EARS2	OMIM:614924
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10079	ATP9A	OMIM:620242
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23299	BICD2	OMIM:618291
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64802	NMNAT1	OMIM:619260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	129285	PPP1R21	OMIM:619383
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2316	FLNA	ORPHA:555877
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2316	FLNA	OMIM:300049
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1496	CTNNA2	OMIM:618174
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10682	EBP	ORPHA:401973
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6095	RORA	OMIM:618060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9131	AIFM1	OMIM:300232
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9131	AIFM1	ORPHA:83629
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	347734	SLC35B2	OMIM:620269
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4774	NFIA	OMIM:613735
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80222	TARS2	OMIM:615918
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55780	ERMARD	ORPHA:75857
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26153	KIF26A	OMIM:620156
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5119	CHMP1A	OMIM:614961
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55157	DARS2	ORPHA:137898
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10000	AKT3	OMIM:615937
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	501	ALDH7A1	ORPHA:3006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11212	PLPBP	ORPHA:3006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23116	TOGARAM1	OMIM:619185
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23400	ATP13A2	ORPHA:513436
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80856	LNPK	OMIM:618090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1641	DCX	ORPHA:2148
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2752	GLUL	OMIM:610015
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9907	AP5Z1	OMIM:613647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9907	AP5Z1	ORPHA:306511
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9653	HS2ST1	OMIM:619194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7025	NR2F1	ORPHA:401777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57498	KIDINS220	ORPHA:521390
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79753	SNIP1	OMIM:614501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11128	POLR3A	ORPHA:447896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11128	POLR3A	OMIM:607694
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10236	HNRNPR	OMIM:620073
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23503	ZFYVE26	OMIM:270700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23503	ZFYVE26	ORPHA:100996
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4094	MAF	ORPHA:1272
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51244	CCDC174	OMIM:616816
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51322	WAC	ORPHA:284169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51322	WAC	OMIM:616708
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57704	GBA2	OMIM:614409
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200403	VWA3B	OMIM:616948
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85021	REPS1	OMIM:617916
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57165	GJC2	OMIM:613206
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124997	WDR81	OMIM:610185
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23028	KDM1A	OMIM:616728
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23028	KDM1A	ORPHA:477993
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23291	FBXW11	OMIM:618914
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7280	TUBB2A	OMIM:615763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51218	GLRX5	OMIM:616859
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23511	NUP188	OMIM:618804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54664	TMEM106B	OMIM:617964
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2475	MTOR	OMIM:616638
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340075	ARSI	ORPHA:401815
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23556	PIGN	ORPHA:280633
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5162	PDHB	ORPHA:255138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51124	IER3IP1	OMIM:614231
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5296	PIK3R2	OMIM:603387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4841	NONO	ORPHA:466791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9786	KIAA0586	OMIM:616546
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5455	POU3F3	OMIM:618604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51663	ZFR	ORPHA:401840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1468	SLC25A10	OMIM:618972
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5307	PITX1	OMIM:119800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55331	ACER3	OMIM:617762
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22978	NT5C2	OMIM:613162
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	153241	CEP120	OMIM:617761
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4858	NOVA2	OMIM:618859
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84148	KAT8	OMIM:618974
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58499	ZNF462	OMIM:618619
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25792	CIZ1	ORPHA:420492
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	400916	CHCHD10	OMIM:615911
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	673	BRAF	OMIM:115150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	673	BRAF	ORPHA:1340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5457	POU4F1	ORPHA:314647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23261	CAMTA1	ORPHA:314647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23261	CAMTA1	OMIM:614756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5521	PPP2R2B	OMIM:604326
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6687	SPG7	ORPHA:99013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6687	SPG7	OMIM:607259
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79158	GNPTAB	OMIM:252500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55650	PIGV	OMIM:239300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2192	FBLN1	ORPHA:404451
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348	APOE	OMIM:607822
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3074	HEXB	ORPHA:309155
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2018	EMX2	OMIM:269160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10347	ABCA7	OMIM:608907
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10347	ABCA7	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	246243	RNASEH1	OMIM:616479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51761	ATP8A2	OMIM:615268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4582	MUC1	OMIM:174000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9487	PIGL	ORPHA:3474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55699	IARS2	OMIM:616007
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54902	TTC19	OMIM:615157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4191	MDH2	OMIM:617339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	493856	CISD2	ORPHA:3463
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7466	WFS1	ORPHA:3463
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5621	PRNP	ORPHA:157941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6311	ATXN2	ORPHA:98756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56652	TWNK	OMIM:271245
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54941	RNF125	OMIM:616260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5664	PSEN2	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10452	TOMM40	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	351	APP	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6653	SORL1	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64116	SLC39A8	ORPHA:468699
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2776	GNAQ	ORPHA:3205
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2776	GNAQ	OMIM:185300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2583	B4GALNT1	OMIM:609195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2583	B4GALNT1	ORPHA:101006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1203	CLN5	ORPHA:228360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1203	CLN5	OMIM:256731
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8925	HERC1	OMIM:617011
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8925	HERC1	ORPHA:457359
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54832	VPS13C	OMIM:616840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27249	MMADHC	OMIM:277410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55630	SLC39A4	ORPHA:37
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10166	SLC25A15	ORPHA:415
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10166	SLC25A15	OMIM:238970
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54834	GDAP2	OMIM:618369
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23317	DNAJC13	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1981	EIF4G1	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55737	VPS35	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	120892	LRRK2	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26058	GIGYF2	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6622	SNCA	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5604	MAP2K1	ORPHA:1340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9150	CTDP1	ORPHA:48431
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10283	CWC27	ORPHA:166035
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60558	GUF1	OMIM:617065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55164	SHQ1	OMIM:619922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	777	CACNA1E	OMIM:618285
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4508	MT-ATP6	ORPHA:644
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23404	EXOSC2	OMIM:617763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29110	TBK1	OMIM:616439
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8878	SQSTM1	OMIM:616437
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9896	FIG4	OMIM:216340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9896	FIG4	ORPHA:3472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55697	VAC14	ORPHA:3472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65250	CPLANE1	OMIM:277170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219844	HYLS1	ORPHA:2189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219844	HYLS1	OMIM:236680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10535	RNASEH2A	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84153	RNASEH2C	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25939	SAMHD1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79621	RNASEH2B	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	103	ADAR	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11277	TREX1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100147744	RNU7-1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134353	LSM11	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64135	IFIH1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1312	COMT	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221037	JMJD1C	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2812	GP1BB	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6239	RREB1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7290	HIRA	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9632	SEC24C	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7353	UFD1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	421	ARVCF	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81839	VANGL1	ORPHA:3027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80199	FUZ	ORPHA:3027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2187	FANCB	ORPHA:3412
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	526	ATP6V1B2	ORPHA:79500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	ORPHA:79500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10262	SF3B4	ORPHA:1788
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64093	SMOC1	ORPHA:1106
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51604	PIGT	ORPHA:369837
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1593	CYP27A1	ORPHA:909
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90624	LYRM7	OMIM:615838
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55775	TDP1	ORPHA:94124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23435	TARDBP	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6335	SCN9A	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2554	GABRA1	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57526	PCDH19	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4714	NDUFB8	ORPHA:70474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9997	SCO2	ORPHA:70474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6834	SURF1	ORPHA:70474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128240	NAXE	OMIM:617186
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	790	CAD	OMIM:616457
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1436	CSF1R	OMIM:221820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1540	CYLD	OMIM:619132
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	215	ABCD1	ORPHA:139396
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8398	PLA2G6	OMIM:612953
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10695	CNPY3	OMIM:617929
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81788	NUAK2	OMIM:619452
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6347	CCL2	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6862	TBXT	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3239	HOXD13	ORPHA:887
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55521	TRIM36	OMIM:206500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51339	DACT1	ORPHA:63260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6913	TBX15	OMIM:260660
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4208	MEF2C	ORPHA:228384
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60529	ALX4	OMIM:613451
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60529	ALX4	ORPHA:228390
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80184	CEP290	OMIM:611134
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80184	CEP290	OMIM:610188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3839	KPNA3	OMIM:620106
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65062	TMEM237	OMIM:614424
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51259	TMEM216	OMIM:608091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	256297	PTF1A	OMIM:609069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9839	ZEB2	ORPHA:261537
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9839	ZEB2	ORPHA:261552
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7020	TFAP2A	OMIM:113620
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11041	B4GAT1	OMIM:615287
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5147	PDE6D	OMIM:615665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4598	MVK	OMIM:610377
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54209	TREM2	OMIM:618193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1678	TIMM8A	ORPHA:52368
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3064	HTT	ORPHA:399
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3064	HTT	OMIM:617435
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6515	SLC2A3	ORPHA:399
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26580	BSCL2	ORPHA:363400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2512	FTL	ORPHA:157846
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7305	TYROBP	OMIM:221770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23230	VPS13A	OMIM:200150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23230	VPS13A	ORPHA:2388
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4750	NEK1	OMIM:617892
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93986	FOXP2	ORPHA:209908
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79133	NDUFAF5	OMIM:618238
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4983	OPHN1	ORPHA:137831
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57338	JPH3	ORPHA:98934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1281	COL3A1	OMIM:618343
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55165	CEP55	OMIM:236500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22983	MAST1	OMIM:618273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84162	BLTP1	OMIM:617822
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	111	ADCY5	OMIM:619651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7436	VLDLR	OMIM:224050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5654	HTRA1	ORPHA:199354
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27235	COQ2	OMIM:607426
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64601	VPS16	OMIM:619291
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7384	UQCRC1	OMIM:619279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10352	WARS2	OMIM:617710
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	686	BTD	OMIM:253260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2581	GALC	ORPHA:206436
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2581	GALC	OMIM:245200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2332	FMR1	OMIM:300623
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23203	PMPCA	ORPHA:1170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8722	CTSF	OMIM:615362
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2720	GLB1	OMIM:230650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2720	GLB1	ORPHA:79255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51473	DCDC2	ORPHA:84081
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9440	MED17	OMIM:613668
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6908	TBP	OMIM:607136
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7074	TIAM1	OMIM:619908
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2072	ERCC4	OMIM:278760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50814	NSDHL	OMIM:308050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6785	ELOVL4	OMIM:614457
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84947	SERAC1	OMIM:614739
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1967	EIF2B1	OMIM:603896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:98794
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:98795
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:411511
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:411515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4948	OCA2	ORPHA:98794
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9373	PLAA	OMIM:617527
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6638	SNRPN	ORPHA:411515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57194	ATP10A	ORPHA:411515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6571	SLC18A2	ORPHA:352649
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22854	NTNG1	ORPHA:3095
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6392	SDHD	OMIM:619167
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9512	PMPCB	OMIM:617954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9692	PRORP	OMIM:619737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8560	DEGS1	OMIM:618404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55858	TMEM165	OMIM:614727
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10087	CERT1	OMIM:616351
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22884	WDR37	OMIM:618652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51501	HIKESHI	OMIM:616881
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56947	MFF	ORPHA:485421
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56947	MFF	OMIM:617086
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	539	ATP5PO	OMIM:620359
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	205327	C2orf69	OMIM:619423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3329	HSPD1	OMIM:612233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2744	GLS	OMIM:618339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	95	ACY1	ORPHA:137754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3769	KCNJ13	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	343035	RD3	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145226	RDH12	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1406	CRX	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10383	TUBB4B	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85015	USP45	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6121	RPE65	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23418	CRB1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5130	PCYT1A	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9657	IQCB1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	392255	GDF6	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23746	AIPL1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3000	GUCY2D	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9227	LRAT	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55812	SPATA7	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7287	TULP1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	167691	LCA5	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3614	IMPDH1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114803	MYSM1	ORPHA:508542
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80347	COASY	OMIM:618266
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54903	MKS1	OMIM:249000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	476	ATP1A1	ORPHA:564178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55733	HHAT	ORPHA:1422
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	OMIM:210710
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9928	KIF14	OMIM:616258
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56270	WDR45B	OMIM:617977
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3295	HSD17B4	OMIM:261515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26227	PHGDH	ORPHA:79351
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79989	IFT56	OMIM:619534
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6662	SOX9	ORPHA:140
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10210	TOPORS	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	317662	FAM149B1	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112755	STX1B	ORPHA:36387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26173	INTS1	OMIM:618571
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2911	GRM1	OMIM:614831
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284217	LAMA1	ORPHA:370022
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7415	VCP	OMIM:167320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7415	VCP	ORPHA:100070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25978	CHMP2B	ORPHA:100070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5663	PSEN1	ORPHA:100070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2896	GRN	ORPHA:100070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4137	MAPT	ORPHA:100070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80025	PANK2	OMIM:234200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23229	ARHGEF9	ORPHA:163985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23229	ARHGEF9	OMIM:300607
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23476	BRD4	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9126	SMC3	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8243	SMC1A	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25836	NIPBL	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55869	HDAC8	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5885	RAD21	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5396	PRRX1	ORPHA:990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7399	USH2A	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79955	PDZD7	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4647	MYO7A	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4647	MYO7A	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25861	WHRN	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84059	ADGRV1	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27238	GPKOW	ORPHA:2570
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6197	RPS6KA3	ORPHA:192
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3265	HRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3845	KRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4893	NRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5290	PIK3CA	ORPHA:60040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8239	USP9X	ORPHA:480880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4567	MT-TL1	ORPHA:225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4556	MT-TE	ORPHA:225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4566	MT-TK	ORPHA:225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2218	FKTN	ORPHA:588
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8905	AP1S2	ORPHA:1568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2737	GLI3	ORPHA:36
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374654	KIF7	ORPHA:36
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22858	CILK1	OMIM:612651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9640	ZNF592	ORPHA:83472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84942	WDR73	ORPHA:83472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1717	DHCR7	ORPHA:818
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55636	CHD7	ORPHA:138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9723	SEMA3E	ORPHA:138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	387119	CEP85L	ORPHA:572013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	389827	MYMK	ORPHA:1358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	101929726	MYMX	ORPHA:1358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2261	FGFR3	ORPHA:93262
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10479	SLC9A6	ORPHA:85278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2068	ERCC2	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2067	ERCC1	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2074	ERCC6	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2073	ERCC5	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85378	TUBGCP6	ORPHA:2518
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27229	TUBGCP4	ORPHA:2518
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4693	NDP	ORPHA:649
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2697	GJA1	ORPHA:2710
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9897	WASHC5	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28952	CCDC22	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64072	CDH23	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10083	USH1C	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124590	USH1G	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83715	ESPN	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10518	CIB2	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65217	PCDH15	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4524	MTHFR	ORPHA:563612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57216	VANGL2	ORPHA:563612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10815	CPLX1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54872	PIGG	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7469	NELFA	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1487	CTBP1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3954	LETM1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7468	NSD2	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9184	BUB3	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	699	BUB1	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9702	CEP57	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9319	TRIP13	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	701	BUB1B	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56623	INPP5E	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91147	TMEM67	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23322	RPGRIP1L	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57545	CC2D2A	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219285	SAMD9L	ORPHA:2585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4001	LMNB1	ORPHA:99027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4668	NAGA	ORPHA:79279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79944	L2HGDH	ORPHA:79314
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	477	ATP1A2	OMIM:619602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64327	LMBR1	ORPHA:2378
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51114	ZDHHC9	ORPHA:776
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65109	UPF3B	ORPHA:776
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4976	OPA1	ORPHA:98673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4099	MAG	OMIM:616680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27072	VPS41	OMIM:619389
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23636	NUP62	ORPHA:225154
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9918	NCAPD2	OMIM:617983
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27185	DISC1	ORPHA:171703
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8320	EOMES	ORPHA:171703
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1984	EIF5A	OMIM:619376
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10015	PDCD6IP	OMIM:620047
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8604	SLC25A12	OMIM:612949
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6045	RNF2	OMIM:619460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84823	LMNB2	OMIM:619180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79023	NUP37	OMIM:618179
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4905	NSF	OMIM:619340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5283	PIGH	OMIM:618010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10273	STUB1	ORPHA:412057
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:177904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:177901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:98754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54551	MAGEL2	ORPHA:177904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54551	MAGEL2	ORPHA:177901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54551	MAGEL2	ORPHA:98754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55681	SCYL2	OMIM:618766
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26278	SACS	ORPHA:98
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10430	TMEM147	OMIM:620075
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85440	DOCK7	ORPHA:411986
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29925	GMPPB	OMIM:615350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29925	GMPPB	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1182	CLCN3	OMIM:619512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55773	TBC1D23	OMIM:617695
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	94005	PIGS	OMIM:618143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2972	BRF1	OMIM:616202
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2972	BRF1	ORPHA:444072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8573	CASK	OMIM:300749
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11340	EXOSC8	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5393	EXOSC9	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23287	AGTPBP1	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23287	AGTPBP1	OMIM:618276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51010	EXOSC3	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7443	VRK1	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7443	VRK1	OMIM:607596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91137	SLC25A46	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91137	SLC25A46	OMIM:619303
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25914	RTTN	ORPHA:468631
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5649	RELN	OMIM:257320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23126	POGZ	ORPHA:468678
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9289	ADGRG1	ORPHA:101070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9289	ADGRG1	OMIM:606854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5728	PTEN	ORPHA:101070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	724066	ATXN8	ORPHA:98760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6315	ATXN8OS	ORPHA:98760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79147	FKRP	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79147	FKRP	OMIM:613153
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29954	POMT2	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84197	POMK	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55624	POMGNT1	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55624	POMGNT1	OMIM:613151
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10585	POMT1	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10733	PLK4	OMIM:616171
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51112	TRAPPC12	ORPHA:500144
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51112	TRAPPC12	OMIM:617669
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283989	TSEN54	OMIM:225753
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283989	TSEN54	OMIM:277470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116461	TSEN15	OMIM:617026
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1630	DCC	OMIM:617542
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28514	DLL1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2253	FGF8	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6496	SIX3	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7050	TGIF1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4838	NODAL	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6469	SHH	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7546	ZIC2	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6491	STIL	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2619	GAS1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84976	DISP1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2736	GLI2	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8928	FOXH1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5727	PTCH1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50937	CDON	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	473	RERE	OMIM:616975
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4190	MDH1	OMIM:618959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10297	APC2	OMIM:618677
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4081	MAB21L1	OMIM:618479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9562	MINPP1	OMIM:619527
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29072	SETD2	OMIM:620157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29072	SETD2	OMIM:620155
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64221	ROBO3	OMIM:607313
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	271	AMPD2	OMIM:615809
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57231	SNX14	ORPHA:397709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6595	SMARCA2	OMIM:619293
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	347733	TUBB2B	ORPHA:467166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	347733	TUBB2B	ORPHA:300573
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7846	TUBA1A	ORPHA:467166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10381	TUBB3	ORPHA:467166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440	ASNS	OMIM:615574
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9215	LARGE1	OMIM:613154
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	738	VPS51	OMIM:618606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23499	MACF1	OMIM:618325
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9439	MED23	OMIM:614249
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114034	TOE1	OMIM:614969
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10195	ALG3	ORPHA:79321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	148789	B3GALNT2	OMIM:615181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	191	AHCY	ORPHA:88618
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51645	PPIL1	OMIM:619301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8884	SLC5A6	OMIM:618973
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92935	MARS2	OMIM:616430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7471	WNT1	OMIM:615220
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7545	ZIC1	OMIM:618736
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10243	GPHN	OMIM:615501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9181	ARHGEF2	OMIM:617523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51013	EXOSC1	OMIM:619304
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7319	UBE2A	ORPHA:163956
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57724	EPG5	ORPHA:1493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27445	PCLO	OMIM:608027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5297	PI4KA	OMIM:619708
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	59336	PRDM13	OMIM:619909
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4125	MAN2B1	ORPHA:309282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4125	MAN2B1	ORPHA:309288
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4644	MYO5A	ORPHA:33445
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51360	MBTPS2	ORPHA:2273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3975	LHX1	ORPHA:261265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6928	HNF1B	ORPHA:261265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23729	SHPK	ORPHA:440713
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79813	EHMT1	ORPHA:96147
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91949	COG7	ORPHA:79333
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26123	TCTN3	ORPHA:2753
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	71	ACTG1	ORPHA:2995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60	ACTB	ORPHA:2995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10371	SEMA3A	OMIM:614897
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170825	GSX2	OMIM:618646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23347	SMCHD1	ORPHA:2250
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5626	PROP1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89884	LHX4	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89884	LHX4	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3170	FOXA2	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5449	POU1F1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5015	OTX2	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5015	OTX2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10735	STAG2	OMIM:301043
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128674	PROKR2	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128674	PROKR2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55717	WDR11	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6091	ROBO1	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23432	GPR161	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9578	CDC42BPB	OMIM:619841
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2260	FGFR1	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6657	SOX2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6658	SOX3	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9915	ARNT2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7473	WNT3	ORPHA:3301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340419	RSPO2	ORPHA:3301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2639	GCDH	ORPHA:25
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57094	CPA6	OMIM:614418
HP:0002980	Femoral bowing	4322	MMP13	OMIM:602111
HP:0002980	Femoral bowing	4322	MMP13	ORPHA:93356
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:187600
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:616482
HP:0002980	Femoral bowing	2261	FGFR3	ORPHA:85165
HP:0002980	Femoral bowing	2261	FGFR3	ORPHA:1860
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:100800
HP:0002980	Femoral bowing	79659	DYNC2H1	OMIM:613091
HP:0002980	Femoral bowing	1300	COL10A1	OMIM:156500
HP:0002980	Femoral bowing	1300	COL10A1	ORPHA:174
HP:0002980	Femoral bowing	5447	POR	OMIM:201750
HP:0002980	Femoral bowing	5447	POR	ORPHA:95699
HP:0002980	Femoral bowing	5447	POR	OMIM:207410
HP:0002980	Femoral bowing	1184	CLCN5	OMIM:300554
HP:0002980	Femoral bowing	1184	CLCN5	OMIM:300009
HP:0002980	Femoral bowing	142680	SLC34A3	OMIM:241530
HP:0002980	Femoral bowing	1594	CYP27B1	ORPHA:289157
HP:0002980	Femoral bowing	1594	CYP27B1	OMIM:264700
HP:0002980	Femoral bowing	120227	CYP2R1	ORPHA:289157
HP:0002980	Femoral bowing	120227	CYP2R1	OMIM:600081
HP:0002980	Femoral bowing	55503	TRPV6	OMIM:618188
HP:0002980	Femoral bowing	5593	PRKG2	OMIM:619638
HP:0002980	Femoral bowing	100151683	RNU4ATAC	OMIM:210710
HP:0002980	Femoral bowing	6023	RMRP	OMIM:250250
HP:0002980	Femoral bowing	89970	RSPRY1	OMIM:616723
HP:0002980	Femoral bowing	5352	PLOD2	OMIM:609220
HP:0002980	Femoral bowing	4148	MATN3	OMIM:608728
HP:0002980	Femoral bowing	6662	SOX9	ORPHA:140
HP:0002980	Femoral bowing	6662	SOX9	OMIM:114290
HP:0002980	Femoral bowing	91754	NEK9	OMIM:617022
HP:0002980	Femoral bowing	91179	SCARF2	OMIM:600920
HP:0002980	Femoral bowing	2263	FGFR2	OMIM:207410
HP:0002980	Femoral bowing	1277	COL1A1	OMIM:166200
HP:0002980	Femoral bowing	3911	LAMA5	OMIM:620076
HP:0002980	Femoral bowing	1301	COL11A1	ORPHA:440354
HP:0002980	Femoral bowing	64175	P3H1	OMIM:610915
HP:0002980	Femoral bowing	54808	DYM	OMIM:223800
HP:0002980	Femoral bowing	5251	PHEX	OMIM:307800
HP:0002980	Femoral bowing	7476	WNT7A	OMIM:228930
HP:0002980	Femoral bowing	7476	WNT7A	OMIM:276820
HP:0002980	Femoral bowing	4125	MAN2B1	OMIM:248500
HP:0002980	Femoral bowing	25885	POLR1A	OMIM:616462
HP:0002980	Femoral bowing	55603	TENT5A	OMIM:617952
HP:0002980	Femoral bowing	727857	BHLHA9	ORPHA:3329
HP:0002980	Femoral bowing	284086	NEK8	OMIM:615415
HP:0002980	Femoral bowing	92344	GORAB	OMIM:231070
HP:0002980	Femoral bowing	9939	RBM8A	OMIM:274000
HP:0002980	Femoral bowing	166929	SGMS2	OMIM:126550
HP:0002980	Femoral bowing	3977	LIFR	OMIM:601559
HP:0002980	Femoral bowing	55151	TMEM38B	OMIM:615066
HP:0002980	Femoral bowing	7421	VDR	OMIM:277440
HP:0002980	Femoral bowing	25871	NEPRO	OMIM:618853
HP:0002980	Femoral bowing	8792	TNFRSF11A	OMIM:602080
HP:0002980	Femoral bowing	649	BMP1	OMIM:614856
HP:0002980	Femoral bowing	3930	LBR	OMIM:618019
HP:0002980	Femoral bowing	55112	DYNC2I1	OMIM:615503
HP:0002980	Femoral bowing	5130	PCYT1A	OMIM:608940
HP:0002980	Femoral bowing	1278	COL1A2	OMIM:166220
HP:0002980	Femoral bowing	4982	TNFRSF11B	OMIM:239000
HP:0002980	Femoral bowing	2316	FLNA	OMIM:311300
HP:0002980	Femoral bowing	1758	DMP1	ORPHA:289176
HP:0002980	Femoral bowing	5167	ENPP1	ORPHA:289176
HP:0002980	Femoral bowing	8200	GDF5	OMIM:201250
HP:0002981	Abnormality of the calf	1497	CTNS	OMIM:219800
HP:0002981	Abnormality of the calf	875	CBS	ORPHA:394
HP:0002981	Abnormality of the calf	2131	EXT1	OMIM:133700
HP:0002981	Abnormality of the calf	2131	EXT1	ORPHA:321
HP:0002981	Abnormality of the calf	2131	EXT1	ORPHA:502
HP:0002981	Abnormality of the calf	51256	TBC1D7	OMIM:248000
HP:0002981	Abnormality of the calf	2132	EXT2	OMIM:133701
HP:0002981	Abnormality of the calf	2132	EXT2	ORPHA:321
HP:0002981	Abnormality of the calf	2972	BRF1	OMIM:616202
HP:0002981	Abnormality of the calf	7360	UGP2	OMIM:618744
HP:0002981	Abnormality of the calf	10992	SF3B2	OMIM:164210
HP:0002981	Abnormality of the calf	538	ATP7A	OMIM:304150
HP:0002981	Abnormality of the calf	538	ATP7A	ORPHA:198
HP:0002981	Abnormality of the calf	58	ACTA1	ORPHA:171436
HP:0002981	Abnormality of the calf	7169	TPM2	ORPHA:171436
HP:0002981	Abnormality of the calf	4703	NEB	ORPHA:171436
HP:0002981	Abnormality of the calf	10324	KLHL41	ORPHA:171436
HP:0002981	Abnormality of the calf	56203	LMOD3	ORPHA:171436
HP:0002981	Abnormality of the calf	1073	CFL2	ORPHA:171436
HP:0002981	Abnormality of the calf	3021	H3-3B	OMIM:619721
HP:0002981	Abnormality of the calf	55790	CSGALNACT1	OMIM:618870
HP:0002981	Abnormality of the calf	23322	RPGRIP1L	OMIM:611560
HP:0002981	Abnormality of the calf	176	ACAN	OMIM:608361
HP:0002981	Abnormality of the calf	84572	GNPTG	OMIM:252605
HP:0002981	Abnormality of the calf	64324	NSD1	OMIM:117550
HP:0002981	Abnormality of the calf	7040	TGFB1	OMIM:131300
HP:0002981	Abnormality of the calf	7040	TGFB1	ORPHA:1328
HP:0002981	Abnormality of the calf	54880	BCOR	ORPHA:2712
HP:0002981	Abnormality of the calf	815	CAMK2A	OMIM:617798
HP:0002981	Abnormality of the calf	4853	NOTCH2	OMIM:102500
HP:0002981	Abnormality of the calf	10381	TUBB3	ORPHA:300570
HP:0002981	Abnormality of the calf	55699	IARS2	ORPHA:436174
HP:0002981	Abnormality of the calf	55699	IARS2	OMIM:616007
HP:0002981	Abnormality of the calf	83480	PUS3	ORPHA:488627
HP:0002981	Abnormality of the calf	157680	VPS13B	OMIM:216550
HP:0002981	Abnormality of the calf	157680	VPS13B	ORPHA:193
HP:0002981	Abnormality of the calf	5566	PRKACA	ORPHA:289
HP:0002981	Abnormality of the calf	5566	PRKACA	OMIM:619142
HP:0002981	Abnormality of the calf	5567	PRKACB	ORPHA:289
HP:0002981	Abnormality of the calf	5567	PRKACB	OMIM:619143
HP:0002981	Abnormality of the calf	2735	GLI1	ORPHA:289
HP:0002981	Abnormality of the calf	2735	GLI1	OMIM:618123
HP:0002981	Abnormality of the calf	2121	EVC	ORPHA:289
HP:0002981	Abnormality of the calf	2121	EVC	OMIM:225500
HP:0002981	Abnormality of the calf	51626	DYNC2LI1	ORPHA:289
HP:0002981	Abnormality of the calf	132884	EVC2	ORPHA:289
HP:0002981	Abnormality of the calf	132884	EVC2	OMIM:225500
HP:0002981	Abnormality of the calf	9839	ZEB2	ORPHA:261552
HP:0002981	Abnormality of the calf	9839	ZEB2	ORPHA:261537
HP:0002981	Abnormality of the calf	2720	GLB1	OMIM:253010
HP:0002981	Abnormality of the calf	3425	IDUA	OMIM:607016
HP:0002981	Abnormality of the calf	374654	KIF7	OMIM:607131
HP:0002981	Abnormality of the calf	374654	KIF7	ORPHA:166024
HP:0002981	Abnormality of the calf	5376	PMP22	ORPHA:3115
HP:0002981	Abnormality of the calf	4359	MPZ	ORPHA:3115
HP:0002981	Abnormality of the calf	1588	CYP19A1	ORPHA:91
HP:0002981	Abnormality of the calf	9653	HS2ST1	OMIM:619194
HP:0002981	Abnormality of the calf	3043	HBB	ORPHA:231214
HP:0002981	Abnormality of the calf	3043	HBB	ORPHA:231226
HP:0002981	Abnormality of the calf	6804	STX1A	ORPHA:904
HP:0002981	Abnormality of the calf	7461	CLIP2	ORPHA:904
HP:0002981	Abnormality of the calf	84277	DNAJC30	ORPHA:904
HP:0002981	Abnormality of the calf	8468	FKBP6	ORPHA:904
HP:0002981	Abnormality of the calf	5982	RFC2	ORPHA:904
HP:0002981	Abnormality of the calf	2969	GTF2I	ORPHA:904
HP:0002981	Abnormality of the calf	3984	LIMK1	ORPHA:904
HP:0002981	Abnormality of the calf	9569	GTF2IRD1	ORPHA:904
HP:0002981	Abnormality of the calf	155382	VPS37D	ORPHA:904
HP:0002981	Abnormality of the calf	155368	METTL27	ORPHA:904
HP:0002981	Abnormality of the calf	114049	BUD23	ORPHA:904
HP:0002981	Abnormality of the calf	7458	EIF4H	ORPHA:904
HP:0002981	Abnormality of the calf	84163	GTF2IRD2	ORPHA:904
HP:0002981	Abnormality of the calf	9275	BCL7B	ORPHA:904
HP:0002981	Abnormality of the calf	26608	TBL2	ORPHA:904
HP:0002981	Abnormality of the calf	653361	NCF1	ORPHA:904
HP:0002981	Abnormality of the calf	135886	TMEM270	ORPHA:904
HP:0002981	Abnormality of the calf	51085	MLXIPL	ORPHA:904
HP:0002981	Abnormality of the calf	9031	BAZ1B	ORPHA:904
HP:0002981	Abnormality of the calf	2006	ELN	ORPHA:904
HP:0002981	Abnormality of the calf	4952	OCRL	OMIM:309000
HP:0002981	Abnormality of the calf	4952	OCRL	ORPHA:534
HP:0002981	Abnormality of the calf	55027	HEATR3	OMIM:620072
HP:0002981	Abnormality of the calf	26137	ZBTB20	OMIM:259050
HP:0002981	Abnormality of the calf	54928	BPNT2	OMIM:614078
HP:0002981	Abnormality of the calf	8838	CCN6	ORPHA:1159
HP:0002981	Abnormality of the calf	3835	KIF22	OMIM:603546
HP:0002981	Abnormality of the calf	3835	KIF22	ORPHA:93360
HP:0002981	Abnormality of the calf	7030	TFE3	OMIM:301066
HP:0002981	Abnormality of the calf	23162	MAPK8IP3	OMIM:618443
HP:0002981	Abnormality of the calf	9394	HS6ST1	OMIM:614880
HP:0002981	Abnormality of the calf	23483	TGDS	OMIM:616145
HP:0002981	Abnormality of the calf	546	ATRX	OMIM:309580
HP:0002981	Abnormality of the calf	7994	KAT6A	OMIM:616268
HP:0002981	Abnormality of the calf	1186	CLCN7	ORPHA:53
HP:0002981	Abnormality of the calf	1297	COL9A1	ORPHA:250984
HP:0002981	Abnormality of the calf	1297	COL9A1	ORPHA:166002
HP:0002981	Abnormality of the calf	1297	COL9A1	OMIM:614134
HP:0002981	Abnormality of the calf	1299	COL9A3	ORPHA:250984
HP:0002981	Abnormality of the calf	1299	COL9A3	ORPHA:166002
HP:0002981	Abnormality of the calf	84695	LOXL3	ORPHA:250984
HP:0002981	Abnormality of the calf	2200	FBN1	ORPHA:2462
HP:0002981	Abnormality of the calf	6497	SKI	ORPHA:2462
HP:0002981	Abnormality of the calf	6497	SKI	OMIM:182212
HP:0002981	Abnormality of the calf	55081	IFT57	OMIM:617927
HP:0002981	Abnormality of the calf	865	CBFB	OMIM:620099
HP:0002981	Abnormality of the calf	8600	TNFSF11	OMIM:259710
HP:0002981	Abnormality of the calf	9361	LONP1	OMIM:600373
HP:0002981	Abnormality of the calf	10466	COG5	ORPHA:263487
HP:0002981	Abnormality of the calf	579	NKX3-2	OMIM:613330
HP:0002981	Abnormality of the calf	26160	IFT172	OMIM:615630
HP:0002981	Abnormality of the calf	23394	ADNP	OMIM:615873
HP:0002981	Abnormality of the calf	7681	MKRN3	OMIM:176270
HP:0002981	Abnormality of the calf	3653	IPW	OMIM:176270
HP:0002981	Abnormality of the calf	54551	MAGEL2	OMIM:176270
HP:0002981	Abnormality of the calf	791114	PWRN1	OMIM:176270
HP:0002981	Abnormality of the calf	100033413	SNORD116-1	OMIM:176270
HP:0002981	Abnormality of the calf	8924	HERC2	OMIM:176270
HP:0002981	Abnormality of the calf	145624	PWAR1	OMIM:176270
HP:0002981	Abnormality of the calf	23742	NPAP1	OMIM:176270
HP:0002981	Abnormality of the calf	338433	SNORD115-1	OMIM:176270
HP:0002981	Abnormality of the calf	411	ARSB	OMIM:253200
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:156530
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:168400
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:184095
HP:0002981	Abnormality of the calf	8882	ZPR1	OMIM:619321
HP:0002981	Abnormality of the calf	137682	NDUFAF6	OMIM:618913
HP:0002981	Abnormality of the calf	55784	MCTP2	ORPHA:1596
HP:0002981	Abnormality of the calf	64135	IFIH1	OMIM:182250
HP:0002981	Abnormality of the calf	153642	ARSK	OMIM:619698
HP:0002981	Abnormality of the calf	4998	ORC1	OMIM:224690
HP:0002981	Abnormality of the calf	84068	SLC10A7	OMIM:618363
HP:0002981	Abnormality of the calf	5604	MAP2K1	ORPHA:1340
HP:0002981	Abnormality of the calf	5605	MAP2K2	ORPHA:1340
HP:0002981	Abnormality of the calf	3845	KRAS	ORPHA:1340
HP:0002981	Abnormality of the calf	673	BRAF	ORPHA:1340
HP:0002981	Abnormality of the calf	23111	SPART	ORPHA:101000
HP:0002981	Abnormality of the calf	9451	EIF2AK3	OMIM:226980
HP:0002981	Abnormality of the calf	54681	P4HTM	OMIM:618493
HP:0002981	Abnormality of the calf	860	RUNX2	ORPHA:1452
HP:0002981	Abnormality of the calf	51715	RAB23	ORPHA:65759
HP:0002981	Abnormality of the calf	51715	RAB23	OMIM:201000
HP:0002981	Abnormality of the calf	1954	MEGF8	ORPHA:65759
HP:0002981	Abnormality of the calf	6424	SFRP4	OMIM:265900
HP:0002981	Abnormality of the calf	10526	IPO8	OMIM:619472
HP:0002981	Abnormality of the calf	6711	SPTBN1	OMIM:619475
HP:0002981	Abnormality of the calf	2588	GALNS	OMIM:253000
HP:0002981	Abnormality of the calf	80152	CENPT	OMIM:618702
HP:0002981	Abnormality of the calf	4796	TONSL	ORPHA:93357
HP:0002981	Abnormality of the calf	4796	TONSL	OMIM:271510
HP:0002981	Abnormality of the calf	5184	PEPD	ORPHA:742
HP:0002981	Abnormality of the calf	7227	TRPS1	ORPHA:502
HP:0002981	Abnormality of the calf	374879	ZNF699	OMIM:619488
HP:0002981	Abnormality of the calf	126792	B3GALT6	OMIM:271640
HP:0002981	Abnormality of the calf	2990	GUSB	OMIM:253220
HP:0002981	Abnormality of the calf	8139	GAN	ORPHA:643
HP:0002981	Abnormality of the calf	26229	B3GAT3	OMIM:245600
HP:0002981	Abnormality of the calf	83452	RAB33B	OMIM:615222
HP:0002981	Abnormality of the calf	80169	CTC1	OMIM:612199
HP:0002981	Abnormality of the calf	9401	RECQL4	ORPHA:221016
HP:0002981	Abnormality of the calf	11128	POLR3A	OMIM:264090
HP:0002981	Abnormality of the calf	79631	EFL1	OMIM:617941
HP:0002981	Abnormality of the calf	3417	IDH1	ORPHA:99646
HP:0002981	Abnormality of the calf	284403	WDR62	OMIM:604317
HP:0002981	Abnormality of the calf	4052	LTBP1	OMIM:619451
HP:0002981	Abnormality of the calf	6137	RPL13	OMIM:618728
HP:0002981	Abnormality of the calf	64131	XYLT1	OMIM:615777
HP:0002981	Abnormality of the calf	6578	SLCO2A1	ORPHA:2796
HP:0002981	Abnormality of the calf	5442	POLRMT	OMIM:619743
HP:0002981	Abnormality of the calf	23594	ORC6	OMIM:613803
HP:0002981	Abnormality of the calf	64682	ANAPC1	ORPHA:221008
HP:0002981	Abnormality of the calf	1576	CYP3A4	OMIM:619073
HP:0002981	Abnormality of the calf	4921	DDR2	OMIM:271665
HP:0002981	Abnormality of the calf	8074	FGF23	ORPHA:89937
HP:0002981	Abnormality of the calf	55325	UFSP2	OMIM:617974
HP:0002981	Abnormality of the calf	9060	PAPSS2	OMIM:612847
HP:0002981	Abnormality of the calf	65992	DDRGK1	ORPHA:93352
HP:0002981	Abnormality of the calf	51360	MBTPS2	OMIM:301014
HP:0002981	Abnormality of the calf	249	ALPL	OMIM:241500
HP:0002981	Abnormality of the calf	249	ALPL	OMIM:241510
HP:0002981	Abnormality of the calf	8318	CDC45	OMIM:617063
HP:0002981	Abnormality of the calf	1962	EHHADH	OMIM:615605
HP:0002981	Abnormality of the calf	9321	TRIP11	OMIM:200600
HP:0002981	Abnormality of the calf	4318	MMP9	OMIM:613073
HP:0002981	Abnormality of the calf	6569	SLC34A1	ORPHA:157215
HP:0002981	Abnormality of the calf	11014	KDELR2	OMIM:619131
HP:0002981	Abnormality of the calf	10491	CRTAP	OMIM:610682
HP:0002981	Abnormality of the calf	3339	HSPG2	OMIM:255800
HP:0002981	Abnormality of the calf	3339	HSPG2	ORPHA:1865
HP:0002981	Abnormality of the calf	372	ARCN1	OMIM:617164
HP:0002981	Abnormality of the calf	4507	MTAP	OMIM:112250
HP:0002981	Abnormality of the calf	4763	NF1	ORPHA:97685
HP:0002981	Abnormality of the calf	54	ACP5	ORPHA:1855
HP:0002981	Abnormality of the calf	121340	SP7	OMIM:613849
HP:0002981	Abnormality of the calf	1300	COL10A1	OMIM:156500
HP:0002981	Abnormality of the calf	1300	COL10A1	ORPHA:174
HP:0002981	Abnormality of the calf	5447	POR	OMIM:201750
HP:0002981	Abnormality of the calf	5447	POR	ORPHA:95699
HP:0002981	Abnormality of the calf	5447	POR	OMIM:207410
HP:0002981	Abnormality of the calf	55503	TRPV6	OMIM:618188
HP:0002981	Abnormality of the calf	5593	PRKG2	OMIM:619638
HP:0002981	Abnormality of the calf	100151683	RNU4ATAC	OMIM:210710
HP:0002981	Abnormality of the calf	89970	RSPRY1	OMIM:616723
HP:0002981	Abnormality of the calf	5352	PLOD2	OMIM:609220
HP:0002981	Abnormality of the calf	4148	MATN3	OMIM:608728
HP:0002981	Abnormality of the calf	91754	NEK9	OMIM:617022
HP:0002981	Abnormality of the calf	91179	SCARF2	OMIM:600920
HP:0002981	Abnormality of the calf	2263	FGFR2	OMIM:207410
HP:0002981	Abnormality of the calf	3911	LAMA5	OMIM:620076
HP:0002981	Abnormality of the calf	7476	WNT7A	OMIM:228930
HP:0002981	Abnormality of the calf	7476	WNT7A	OMIM:276820
HP:0002981	Abnormality of the calf	4125	MAN2B1	OMIM:248500
HP:0002981	Abnormality of the calf	25885	POLR1A	OMIM:616462
HP:0002981	Abnormality of the calf	55603	TENT5A	OMIM:617952
HP:0002981	Abnormality of the calf	284086	NEK8	OMIM:615415
HP:0002981	Abnormality of the calf	9939	RBM8A	OMIM:274000
HP:0002981	Abnormality of the calf	166929	SGMS2	OMIM:126550
HP:0002981	Abnormality of the calf	55151	TMEM38B	OMIM:615066
HP:0002981	Abnormality of the calf	25871	NEPRO	OMIM:618853
HP:0002981	Abnormality of the calf	8792	TNFRSF11A	OMIM:602080
HP:0002981	Abnormality of the calf	649	BMP1	OMIM:614856
HP:0002981	Abnormality of the calf	3930	LBR	OMIM:618019
HP:0002981	Abnormality of the calf	55112	DYNC2I1	OMIM:615503
HP:0002981	Abnormality of the calf	4322	MMP13	OMIM:602111
HP:0002981	Abnormality of the calf	4322	MMP13	ORPHA:93356
HP:0002981	Abnormality of the calf	2261	FGFR3	OMIM:616482
HP:0002981	Abnormality of the calf	2261	FGFR3	ORPHA:85165
HP:0002981	Abnormality of the calf	65250	CPLANE1	OMIM:277170
HP:0002981	Abnormality of the calf	1184	CLCN5	OMIM:300554
HP:0002981	Abnormality of the calf	1184	CLCN5	OMIM:300009
HP:0002981	Abnormality of the calf	142680	SLC34A3	OMIM:241530
HP:0002981	Abnormality of the calf	9158	FIBP	ORPHA:500095
HP:0002981	Abnormality of the calf	1594	CYP27B1	ORPHA:289157
HP:0002981	Abnormality of the calf	1594	CYP27B1	OMIM:264700
HP:0002981	Abnormality of the calf	120227	CYP2R1	ORPHA:289157
HP:0002981	Abnormality of the calf	120227	CYP2R1	OMIM:600081
HP:0002981	Abnormality of the calf	2335	FN1	ORPHA:93315
HP:0002981	Abnormality of the calf	1280	COL2A1	ORPHA:93315
HP:0002981	Abnormality of the calf	1280	COL2A1	OMIM:156550
HP:0002981	Abnormality of the calf	23314	SATB2	ORPHA:251028
HP:0002981	Abnormality of the calf	1277	COL1A1	OMIM:259420
HP:0002981	Abnormality of the calf	1277	COL1A1	OMIM:114000
HP:0002981	Abnormality of the calf	1277	COL1A1	OMIM:166210
HP:0002981	Abnormality of the calf	1278	COL1A2	OMIM:259420
HP:0002981	Abnormality of the calf	1278	COL1A2	OMIM:166210
HP:0002981	Abnormality of the calf	6473	SHOX	OMIM:127300
HP:0002981	Abnormality of the calf	6473	SHOX	ORPHA:314795
HP:0002981	Abnormality of the calf	6473	SHOX	ORPHA:240
HP:0002981	Abnormality of the calf	6662	SOX9	ORPHA:140
HP:0002981	Abnormality of the calf	6662	SOX9	OMIM:114290
HP:0002981	Abnormality of the calf	5159	PDGFRB	OMIM:601812
HP:0002981	Abnormality of the calf	22858	CILK1	OMIM:612651
HP:0002981	Abnormality of the calf	64093	SMOC1	OMIM:206920
HP:0002981	Abnormality of the calf	64093	SMOC1	ORPHA:1106
HP:0002981	Abnormality of the calf	4041	LRP5	OMIM:259770
HP:0002981	Abnormality of the calf	388015	RTL1	ORPHA:96334
HP:0002981	Abnormality of the calf	8788	DLK1	ORPHA:96334
HP:0002981	Abnormality of the calf	55384	MEG3	ORPHA:96334
HP:0002981	Abnormality of the calf	2316	FLNA	OMIM:304120
HP:0002981	Abnormality of the calf	2316	FLNA	OMIM:309350
HP:0002981	Abnormality of the calf	64175	P3H1	OMIM:610915
HP:0002981	Abnormality of the calf	54808	DYM	OMIM:223800
HP:0002981	Abnormality of the calf	5251	PHEX	OMIM:307800
HP:0002981	Abnormality of the calf	6023	RMRP	ORPHA:175
HP:0002981	Abnormality of the calf	1758	DMP1	ORPHA:289176
HP:0002981	Abnormality of the calf	5167	ENPP1	ORPHA:289176
HP:0002981	Abnormality of the calf	8218	CLTCL1	ORPHA:453510
HP:0002981	Abnormality of the calf	9469	CHST3	OMIM:143095
HP:0002981	Abnormality of the calf	92344	GORAB	OMIM:231070
HP:0002981	Abnormality of the calf	2317	FLNB	OMIM:108721
HP:0002981	Abnormality of the calf	2317	FLNB	OMIM:108720
HP:0002981	Abnormality of the calf	1302	COL11A2	ORPHA:1427
HP:0002981	Abnormality of the calf	3977	LIFR	OMIM:601559
HP:0002981	Abnormality of the calf	7421	VDR	OMIM:277440
HP:0002981	Abnormality of the calf	5116	PCNT	OMIM:210720
HP:0002981	Abnormality of the calf	5130	PCYT1A	OMIM:608940
HP:0002981	Abnormality of the calf	26040	SETBP1	OMIM:269150
HP:0002981	Abnormality of the calf	26040	SETBP1	ORPHA:798
HP:0002981	Abnormality of the calf	871	SERPINH1	OMIM:613848
HP:0002981	Abnormality of the calf	6913	TBX15	OMIM:260660
HP:0002981	Abnormality of the calf	1593	CYP27A1	ORPHA:909
HP:0002981	Abnormality of the calf	4010	LMX1B	ORPHA:2614
HP:0002981	Abnormality of the calf	60	ACTB	ORPHA:64755
HP:0002981	Abnormality of the calf	6916	TBXAS1	ORPHA:1802
HP:0002981	Abnormality of the calf	3248	HPGD	ORPHA:1525
HP:0002981	Abnormality of the calf	55636	CHD7	ORPHA:138
HP:0002981	Abnormality of the calf	9723	SEMA3E	ORPHA:138
HP:0002981	Abnormality of the calf	139285	AMER1	OMIM:300373
HP:0002981	Abnormality of the calf	2535	FZD2	OMIM:164745
HP:0002981	Abnormality of the calf	8200	GDF5	OMIM:200700
HP:0002981	Abnormality of the calf	8200	GDF5	OMIM:615072
HP:0002981	Abnormality of the calf	8200	GDF5	OMIM:201250
HP:0002981	Abnormality of the calf	8200	GDF5	ORPHA:2098
HP:0002981	Abnormality of the calf	8200	GDF5	OMIM:228900
HP:0002981	Abnormality of the calf	79659	DYNC2H1	OMIM:613091
HP:0002981	Abnormality of the calf	153241	CEP120	OMIM:616300
HP:0002981	Abnormality of the calf	3899	AFF3	OMIM:619297
HP:0002981	Abnormality of the calf	10082	GPC6	OMIM:258315
HP:0002981	Abnormality of the calf	727857	BHLHA9	ORPHA:3329
HP:0002981	Abnormality of the calf	658	BMPR1B	ORPHA:2098
HP:0002981	Abnormality of the calf	3636	INPPL1	ORPHA:3144
HP:0002981	Abnormality of the calf	23169	SLC35D1	ORPHA:3144
HP:0002981	Abnormality of the calf	55764	IFT122	OMIM:218330
HP:0002981	Abnormality of the calf	10262	SF3B4	ORPHA:1788
HP:0002981	Abnormality of the calf	5745	PTH1R	ORPHA:79106
HP:0002981	Abnormality of the calf	5745	PTH1R	OMIM:600002
HP:0002981	Abnormality of the calf	27125	AFF4	ORPHA:444077
HP:0002981	Abnormality of the calf	9775	EIF4A3	OMIM:268305
HP:0002981	Abnormality of the calf	1301	COL11A1	OMIM:228520
HP:0002981	Abnormality of the calf	27152	INTU	OMIM:617925
HP:0002981	Abnormality of the calf	4233	MET	OMIM:607278
HP:0002981	Abnormality of the calf	2879	GPX4	ORPHA:93317
HP:0002981	Abnormality of the calf	2879	GPX4	OMIM:250220
HP:0002981	Abnormality of the calf	54187	NANS	OMIM:610442
HP:0002981	Abnormality of the calf	633	BGN	OMIM:300106
HP:0002981	Abnormality of the calf	6399	TRAPPC2	ORPHA:93284
HP:0002981	Abnormality of the calf	124583	CANT1	OMIM:251450
HP:0002981	Abnormality of the calf	4982	TNFRSF11B	OMIM:239000
HP:0002981	Abnormality of the calf	7355	SLC35A2	ORPHA:356961
HP:0002981	Abnormality of the calf	4750	NEK1	ORPHA:2751
HP:0002981	Abnormality of the calf	79087	ALG12	OMIM:607143
HP:0002981	Abnormality of the calf	3549	IHH	OMIM:607778
HP:0002981	Abnormality of the calf	29980	DONSON	OMIM:251230
HP:0002981	Abnormality of the calf	57688	ZSWIM6	ORPHA:1827
HP:0002981	Abnormality of the calf	64327	LMBR1	ORPHA:988
HP:0002981	Abnormality of the calf	6469	SHH	ORPHA:988
HP:0002981	Abnormality of the calf	26123	TCTN3	ORPHA:2753
HP:0002981	Abnormality of the calf	2737	GLI3	ORPHA:93322
HP:0002981	Abnormality of the calf	219844	HYLS1	OMIM:236680
HP:0002981	Abnormality of the calf	9131	AIFM1	OMIM:300232
HP:0002981	Abnormality of the calf	545	ATR	OMIM:210600
HP:0002981	Abnormality of the calf	25839	COG4	OMIM:618150
HP:0002981	Abnormality of the calf	7157	TP53	ORPHA:668
HP:0002981	Abnormality of the calf	5925	RB1	ORPHA:668
HP:0002981	Abnormality of the calf	11200	CHEK2	ORPHA:668
HP:0002981	Abnormality of the calf	5307	PITX1	OMIM:119800
HP:0002981	Abnormality of the calf	57003	CCDC47	OMIM:618268
HP:0002981	Abnormality of the calf	202018	TAPT1	OMIM:616897
HP:0002981	Abnormality of the calf	60676	PAPPA2	OMIM:619489
HP:0002981	Abnormality of the calf	10651	MTX2	OMIM:619127
HP:0002981	Abnormality of the calf	2019	EN1	OMIM:619218
HP:0002981	Abnormality of the calf	1311	COMP	ORPHA:750
HP:0002981	Abnormality of the calf	1836	SLC26A2	ORPHA:56304
HP:0002981	Abnormality of the calf	55315	SLC29A3	OMIM:602782
HP:0002981	Abnormality of the calf	1298	COL9A2	OMIM:600204
HP:0002981	Abnormality of the calf	1656	DDX6	OMIM:618653
HP:0002981	Abnormality of the calf	57479	PRR12	OMIM:619539
HP:0002981	Abnormality of the calf	6335	SCN9A	ORPHA:33069
HP:0002981	Abnormality of the calf	6335	SCN9A	ORPHA:36387
HP:0002981	Abnormality of the calf	6326	SCN2A	ORPHA:33069
HP:0002981	Abnormality of the calf	6326	SCN2A	ORPHA:36387
HP:0002981	Abnormality of the calf	2554	GABRA1	ORPHA:33069
HP:0002981	Abnormality of the calf	6323	SCN1A	ORPHA:33069
HP:0002981	Abnormality of the calf	6323	SCN1A	ORPHA:36387
HP:0002981	Abnormality of the calf	6324	SCN1B	ORPHA:33069
HP:0002981	Abnormality of the calf	6324	SCN1B	ORPHA:36387
HP:0002981	Abnormality of the calf	57526	PCDH19	ORPHA:33069
HP:0002981	Abnormality of the calf	2566	GABRG2	ORPHA:33069
HP:0002981	Abnormality of the calf	2566	GABRG2	ORPHA:36387
HP:0002981	Abnormality of the calf	112755	STX1B	ORPHA:36387
HP:0002981	Abnormality of the calf	2563	GABRD	ORPHA:36387
HP:0002981	Abnormality of the calf	348980	HCN1	ORPHA:36387
HP:0002981	Abnormality of the calf	84059	ADGRV1	ORPHA:36387
HP:0002983	Micromelia	2261	FGFR3	OMIM:187601
HP:0002983	Micromelia	2261	FGFR3	ORPHA:93274
HP:0002983	Micromelia	2261	FGFR3	ORPHA:429
HP:0002983	Micromelia	2261	FGFR3	ORPHA:1860
HP:0002983	Micromelia	5573	PRKAR1A	ORPHA:950
HP:0002983	Micromelia	5144	PDE4D	ORPHA:950
HP:0002983	Micromelia	4921	DDR2	OMIM:271665
HP:0002983	Micromelia	176	ACAN	ORPHA:93283
HP:0002983	Micromelia	65992	DDRGK1	OMIM:602557
HP:0002983	Micromelia	28981	IFT81	OMIM:617895
HP:0002983	Micromelia	100151683	RNU4ATAC	OMIM:210710
HP:0002983	Micromelia	100151683	RNU4ATAC	ORPHA:2636
HP:0002983	Micromelia	9820	CUL7	ORPHA:2616
HP:0002983	Micromelia	23363	OBSL1	ORPHA:2616
HP:0002983	Micromelia	83987	CCDC8	ORPHA:2616
HP:0002983	Micromelia	145173	B3GLCT	ORPHA:709
HP:0002983	Micromelia	118429	ANTXR2	ORPHA:2176
HP:0002983	Micromelia	55733	HHAT	OMIM:600092
HP:0002983	Micromelia	55733	HHAT	ORPHA:1422
HP:0002983	Micromelia	3636	INPPL1	ORPHA:3144
HP:0002983	Micromelia	23169	SLC35D1	ORPHA:3144
HP:0002983	Micromelia	5745	PTH1R	OMIM:215045
HP:0002983	Micromelia	5745	PTH1R	ORPHA:296
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:56304
HP:0002983	Micromelia	1836	SLC26A2	OMIM:600972
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:628
HP:0002983	Micromelia	1836	SLC26A2	OMIM:256050
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:93298
HP:0002983	Micromelia	55112	DYNC2I1	ORPHA:93271
HP:0002983	Micromelia	55112	DYNC2I1	ORPHA:474
HP:0002983	Micromelia	57560	IFT80	ORPHA:93271
HP:0002983	Micromelia	57560	IFT80	ORPHA:474
HP:0002983	Micromelia	57539	WDR35	ORPHA:93271
HP:0002983	Micromelia	57539	WDR35	OMIM:614091
HP:0002983	Micromelia	79659	DYNC2H1	ORPHA:93271
HP:0002983	Micromelia	79659	DYNC2H1	ORPHA:474
HP:0002983	Micromelia	89891	DYNC2I2	ORPHA:93271
HP:0002983	Micromelia	89891	DYNC2I2	ORPHA:474
HP:0002983	Micromelia	249	ALPL	OMIM:241500
HP:0002983	Micromelia	55790	CSGALNACT1	OMIM:618870
HP:0002983	Micromelia	22858	CILK1	OMIM:612651
HP:0002983	Micromelia	10225	CD96	OMIM:211750
HP:0002983	Micromelia	10225	CD96	ORPHA:1308
HP:0002983	Micromelia	4038	LRP4	ORPHA:3258
HP:0002983	Micromelia	324	APC	ORPHA:3258
HP:0002983	Micromelia	56975	FAM20C	OMIM:259775
HP:0002983	Micromelia	2263	FGFR2	ORPHA:87
HP:0002983	Micromelia	3418	IDH2	ORPHA:296
HP:0002983	Micromelia	3417	IDH1	ORPHA:296
HP:0002983	Micromelia	6023	RMRP	ORPHA:175
HP:0002983	Micromelia	4318	MMP9	OMIM:613073
HP:0002983	Micromelia	3549	IHH	ORPHA:63446
HP:0002983	Micromelia	3549	IHH	OMIM:607778
HP:0002983	Micromelia	3339	HSPG2	ORPHA:1865
HP:0002983	Micromelia	3339	HSPG2	OMIM:224410
HP:0002983	Micromelia	3339	HSPG2	OMIM:255800
HP:0002983	Micromelia	3339	HSPG2	ORPHA:800
HP:0002983	Micromelia	60	ACTB	ORPHA:79107
HP:0002983	Micromelia	60	ACTB	ORPHA:64755
HP:0002983	Micromelia	22827	PUF60	ORPHA:508488
HP:0002983	Micromelia	1717	DHCR7	OMIM:270400
HP:0002983	Micromelia	5566	PRKACA	ORPHA:289
HP:0002983	Micromelia	5567	PRKACB	ORPHA:289
HP:0002983	Micromelia	2735	GLI1	ORPHA:289
HP:0002983	Micromelia	2121	EVC	ORPHA:289
HP:0002983	Micromelia	51626	DYNC2LI1	ORPHA:289
HP:0002983	Micromelia	51626	DYNC2LI1	ORPHA:474
HP:0002983	Micromelia	132884	EVC2	ORPHA:289
HP:0002983	Micromelia	2752	GLUL	OMIM:610015
HP:0002983	Micromelia	1301	COL11A1	ORPHA:2021
HP:0002983	Micromelia	1301	COL11A1	ORPHA:440354
HP:0002983	Micromelia	1302	COL11A2	ORPHA:2021
HP:0002983	Micromelia	29980	DONSON	OMIM:251230
HP:0002983	Micromelia	26227	PHGDH	OMIM:256520
HP:0002983	Micromelia	23476	BRD4	ORPHA:199
HP:0002983	Micromelia	9126	SMC3	ORPHA:199
HP:0002983	Micromelia	8243	SMC1A	ORPHA:199
HP:0002983	Micromelia	25836	NIPBL	ORPHA:199
HP:0002983	Micromelia	25836	NIPBL	OMIM:122470
HP:0002983	Micromelia	55869	HDAC8	ORPHA:199
HP:0002983	Micromelia	5885	RAD21	ORPHA:199
HP:0002983	Micromelia	26160	IFT172	ORPHA:474
HP:0002983	Micromelia	153241	CEP120	ORPHA:474
HP:0002983	Micromelia	9742	IFT140	ORPHA:474
HP:0002983	Micromelia	57728	WDR19	ORPHA:474
HP:0002983	Micromelia	79809	TTC21B	ORPHA:474
HP:0002983	Micromelia	9321	TRIP11	ORPHA:166272
HP:0002983	Micromelia	9321	TRIP11	OMIM:184260
HP:0002983	Micromelia	9321	TRIP11	OMIM:200600
HP:0002983	Micromelia	9321	TRIP11	ORPHA:93299
HP:0002983	Micromelia	1280	COL2A1	OMIM:151210
HP:0002983	Micromelia	1280	COL2A1	ORPHA:85166
HP:0002983	Micromelia	1280	COL2A1	ORPHA:93296
HP:0002983	Micromelia	1857	DVL3	ORPHA:3107
HP:0002983	Micromelia	7474	WNT5A	ORPHA:3107
HP:0002983	Micromelia	1855	DVL1	ORPHA:3107
HP:0002983	Micromelia	2535	FZD2	ORPHA:3107
HP:0002983	Micromelia	6608	SMO	OMIM:241800
HP:0002983	Micromelia	8200	GDF5	ORPHA:2098
HP:0002983	Micromelia	8200	GDF5	ORPHA:2639
HP:0002983	Micromelia	658	BMPR1B	ORPHA:2098
HP:0002983	Micromelia	658	BMPR1B	ORPHA:2639
HP:0002983	Micromelia	4148	MATN3	OMIM:608728
HP:0002983	Micromelia	1718	DHCR24	ORPHA:35107
HP:0002983	Micromelia	112752	IFT43	OMIM:617866
HP:0002983	Micromelia	1806	DPYD	ORPHA:1675
HP:0002983	Micromelia	1028	CDKN1C	ORPHA:85173
HP:0002983	Micromelia	5426	POLE	ORPHA:85173
HP:0002983	Micromelia	3930	LBR	OMIM:215140
HP:0002983	Micromelia	3930	LBR	ORPHA:1426
HP:0002983	Micromelia	9786	KIAA0586	OMIM:616546
HP:0002983	Micromelia	3977	LIFR	ORPHA:3206
HP:0002983	Micromelia	59341	TRPV4	ORPHA:2635
HP:0002983	Micromelia	10491	CRTAP	OMIM:610682
HP:0002983	Micromelia	7476	WNT7A	ORPHA:2879
HP:0002983	Micromelia	5116	PCNT	ORPHA:2637
HP:0002983	Micromelia	51594	NBAS	OMIM:614800
HP:0002983	Micromelia	2317	FLNB	ORPHA:1263
HP:0002983	Micromelia	26123	TCTN3	ORPHA:2753
HP:0002983	Micromelia	6473	SHOX	ORPHA:2632
HP:0002983	Micromelia	6473	SHOX	ORPHA:240
HP:0002983	Micromelia	10082	GPC6	ORPHA:93329
HP:0002983	Micromelia	51025	PAM16	OMIM:613320
HP:0002983	Micromelia	219844	HYLS1	ORPHA:2189
HP:0002983	Micromelia	374654	KIF7	ORPHA:2189
HP:0002983	Micromelia	871	SERPINH1	OMIM:613848
HP:0002986	Radial bowing	2737	GLI3	ORPHA:672
HP:0002986	Radial bowing	4920	ROR2	OMIM:268310
HP:0002986	Radial bowing	4322	MMP13	OMIM:602111
HP:0002986	Radial bowing	1301	COL11A1	OMIM:154780
HP:0002986	Radial bowing	4882	NPR2	OMIM:602875
HP:0002986	Radial bowing	1280	COL2A1	OMIM:151210
HP:0002986	Radial bowing	7476	WNT7A	OMIM:228930
HP:0002986	Radial bowing	7476	WNT7A	ORPHA:2879
HP:0002986	Radial bowing	7476	WNT7A	OMIM:276820
HP:0002986	Radial bowing	8074	FGF23	OMIM:617993
HP:0002986	Radial bowing	8200	GDF5	OMIM:201250
HP:0002986	Radial bowing	2261	FGFR3	OMIM:100800
HP:0002986	Radial bowing	5593	PRKG2	OMIM:619636
HP:0002986	Radial bowing	2317	FLNB	OMIM:108721
HP:0002986	Radial bowing	2317	FLNB	OMIM:108720
HP:0002986	Radial bowing	59341	TRPV4	ORPHA:93314
HP:0002986	Radial bowing	6473	SHOX	OMIM:127300
HP:0002986	Radial bowing	6473	SHOX	ORPHA:240
HP:0002986	Radial bowing	6473	SHOX	OMIM:249700
HP:0002986	Radial bowing	91147	TMEM67	OMIM:602152
HP:0002986	Radial bowing	3549	IHH	OMIM:607778
HP:0002986	Radial bowing	567	B2M	OMIM:241600
HP:0002986	Radial bowing	112752	IFT43	OMIM:617866
HP:0002986	Radial bowing	1836	SLC26A2	ORPHA:93307
HP:0002986	Radial bowing	3930	LBR	OMIM:618019
HP:0002986	Radial bowing	5116	PCNT	OMIM:210720
HP:0002986	Radial bowing	2316	FLNA	OMIM:304120
HP:0002986	Radial bowing	3207	HOXA11	OMIM:605432
HP:0002986	Radial bowing	64175	P3H1	OMIM:610915
HP:0002986	Radial bowing	126792	B3GALT6	OMIM:271640
HP:0003063	Abnormality of the humerus	9791	PTDSS1	OMIM:151050
HP:0003063	Abnormality of the humerus	6913	TBX15	OMIM:260660
HP:0003063	Abnormality of the humerus	6913	TBX15	ORPHA:93333
HP:0003063	Abnormality of the humerus	5447	POR	OMIM:201750
HP:0003063	Abnormality of the humerus	5447	POR	OMIM:207410
HP:0003063	Abnormality of the humerus	5447	POR	ORPHA:95699
HP:0003063	Abnormality of the humerus	9241	NOG	OMIM:186570
HP:0003063	Abnormality of the humerus	2260	FGFR1	OMIM:101600
HP:0003063	Abnormality of the humerus	2263	FGFR2	OMIM:101600
HP:0003063	Abnormality of the humerus	2263	FGFR2	OMIM:207410
HP:0003063	Abnormality of the humerus	2263	FGFR2	OMIM:101200
HP:0003063	Abnormality of the humerus	7476	WNT7A	ORPHA:2879
HP:0003063	Abnormality of the humerus	7476	WNT7A	OMIM:276820
HP:0003063	Abnormality of the humerus	56603	CYP26B1	OMIM:614416
HP:0003063	Abnormality of the humerus	2254	FGF9	OMIM:612961
HP:0003063	Abnormality of the humerus	8200	GDF5	OMIM:610017
HP:0003063	Abnormality of the humerus	29980	DONSON	OMIM:251230
HP:0003063	Abnormality of the humerus	6473	SHOX	ORPHA:240
HP:0003063	Abnormality of the humerus	6473	SHOX	OMIM:127300
HP:0003063	Abnormality of the humerus	9555	MACROH2A1	ORPHA:1275
HP:0003063	Abnormality of the humerus	5307	PITX1	ORPHA:1275
HP:0003063	Abnormality of the humerus	7040	TGFB1	ORPHA:1328
HP:0003063	Abnormality of the humerus	649	BMP1	OMIM:614856
HP:0003063	Abnormality of the humerus	90993	CREB3L1	OMIM:616229
HP:0003063	Abnormality of the humerus	1836	SLC26A2	OMIM:256050
HP:0003063	Abnormality of the humerus	100151683	RNU4ATAC	OMIM:210710
HP:0003063	Abnormality of the humerus	3930	LBR	OMIM:618019
HP:0003063	Abnormality of the humerus	6678	SPARC	OMIM:616507
HP:0003063	Abnormality of the humerus	9851	KIAA0753	OMIM:619479
HP:0003063	Abnormality of the humerus	3911	LAMA5	OMIM:620076
HP:0003063	Abnormality of the humerus	126792	B3GALT6	OMIM:609465
HP:0003063	Abnormality of the humerus	340419	RSPO2	OMIM:618022
HP:0003063	Abnormality of the humerus	538	ATP7A	ORPHA:198
HP:0003063	Abnormality of the humerus	10847	SRCAP	ORPHA:2044
HP:0003063	Abnormality of the humerus	26175	LYSET	OMIM:619345
HP:0003063	Abnormality of the humerus	1280	COL2A1	ORPHA:166011
HP:0003063	Abnormality of the humerus	5593	PRKG2	OMIM:619636
HP:0003063	Abnormality of the humerus	4796	TONSL	ORPHA:93357
HP:0003063	Abnormality of the humerus	2317	FLNB	ORPHA:56305
HP:0003063	Abnormality of the humerus	59341	TRPV4	ORPHA:93314
HP:0003063	Abnormality of the humerus	2778	GNAS	ORPHA:94089
HP:0003063	Abnormality of the humerus	8675	STX16	ORPHA:94089
HP:0003063	Abnormality of the humerus	2146	EZH2	OMIM:277590
HP:0003063	Abnormality of the humerus	54808	DYM	OMIM:223800
HP:0003063	Abnormality of the humerus	2535	FZD2	OMIM:164745
HP:0003063	Abnormality of the humerus	10082	GPC6	OMIM:258315
HP:0003063	Abnormality of the humerus	10082	GPC6	ORPHA:93329
HP:0003063	Abnormality of the humerus	9361	LONP1	OMIM:600373
HP:0003063	Abnormality of the humerus	64327	LMBR1	OMIM:200500
HP:0003063	Abnormality of the humerus	64327	LMBR1	ORPHA:931
HP:0003063	Abnormality of the humerus	6628	SNRPB	OMIM:117650
HP:0003063	Abnormality of the humerus	10588	MTHFS	OMIM:618367
HP:0003063	Abnormality of the humerus	23483	TGDS	OMIM:616145
HP:0003063	Abnormality of the humerus	11128	POLR3A	OMIM:264090
HP:0003063	Abnormality of the humerus	11128	POLR3A	ORPHA:3455
HP:0003063	Abnormality of the humerus	57167	SALL4	OMIM:607323
HP:0003063	Abnormality of the humerus	57167	SALL4	ORPHA:959
HP:0003063	Abnormality of the humerus	55764	IFT122	OMIM:218330
HP:0003063	Abnormality of the humerus	79087	ALG12	OMIM:607143
HP:0003063	Abnormality of the humerus	157570	ESCO2	OMIM:268300
HP:0003063	Abnormality of the humerus	4982	TNFRSF11B	OMIM:239000
HP:0003063	Abnormality of the humerus	6910	TBX5	OMIM:142900
HP:0003063	Abnormality of the humerus	114803	MYSM1	ORPHA:508542
HP:0003063	Abnormality of the humerus	8540	AGPS	OMIM:600121
HP:0003063	Abnormality of the humerus	9401	RECQL4	OMIM:218600
HP:0003063	Abnormality of the humerus	6926	TBX3	OMIM:181450
HP:0003063	Abnormality of the humerus	3549	IHH	OMIM:607778
HP:0003063	Abnormality of the humerus	2187	FANCB	OMIM:314390
HP:0003063	Abnormality of the humerus	7547	ZIC3	OMIM:314390
HP:0003063	Abnormality of the humerus	8802	SUCLG1	ORPHA:17
HP:0003063	Abnormality of the humerus	2316	FLNA	OMIM:309350
HP:0003063	Abnormality of the humerus	5830	PEX5	OMIM:616716
HP:0003063	Abnormality of the humerus	79158	GNPTAB	OMIM:252500
HP:0003063	Abnormality of the humerus	9939	RBM8A	ORPHA:3320
HP:0003063	Abnormality of the humerus	9939	RBM8A	OMIM:274000
HP:0003063	Abnormality of the humerus	145258	GSC	OMIM:602471
HP:0003063	Abnormality of the humerus	8443	GNPAT	OMIM:222765
HP:0002991	Abnormality of fibula morphology	65250	CPLANE1	OMIM:277170
HP:0002991	Abnormality of fibula morphology	7476	WNT7A	OMIM:228930
HP:0002991	Abnormality of fibula morphology	7476	WNT7A	ORPHA:2879
HP:0002991	Abnormality of fibula morphology	7476	WNT7A	OMIM:276820
HP:0002991	Abnormality of fibula morphology	9939	RBM8A	ORPHA:3320
HP:0002991	Abnormality of fibula morphology	9939	RBM8A	OMIM:274000
HP:0002991	Abnormality of fibula morphology	6913	TBX15	OMIM:260660
HP:0002991	Abnormality of fibula morphology	2316	FLNA	ORPHA:90652
HP:0002991	Abnormality of fibula morphology	2131	EXT1	ORPHA:321
HP:0002991	Abnormality of fibula morphology	2132	EXT2	ORPHA:321
HP:0002991	Abnormality of fibula morphology	538	ATP7A	ORPHA:198
HP:0002991	Abnormality of fibula morphology	2317	FLNB	ORPHA:1190
HP:0002991	Abnormality of fibula morphology	1280	COL2A1	ORPHA:85198
HP:0002991	Abnormality of fibula morphology	2263	FGFR2	ORPHA:1540
HP:0002991	Abnormality of fibula morphology	64327	LMBR1	ORPHA:988
HP:0002991	Abnormality of fibula morphology	6469	SHH	ORPHA:988
HP:0002991	Abnormality of fibula morphology	139285	AMER1	OMIM:300373
HP:0002991	Abnormality of fibula morphology	2535	FZD2	OMIM:164745
HP:0002991	Abnormality of fibula morphology	8200	GDF5	OMIM:200700
HP:0002991	Abnormality of fibula morphology	8200	GDF5	OMIM:615072
HP:0002991	Abnormality of fibula morphology	8200	GDF5	OMIM:201250
HP:0002991	Abnormality of fibula morphology	8200	GDF5	ORPHA:2098
HP:0002991	Abnormality of fibula morphology	8200	GDF5	OMIM:228900
HP:0002991	Abnormality of fibula morphology	79659	DYNC2H1	OMIM:613091
HP:0002991	Abnormality of fibula morphology	153241	CEP120	OMIM:616300
HP:0002991	Abnormality of fibula morphology	3899	AFF3	OMIM:619297
HP:0002991	Abnormality of fibula morphology	10082	GPC6	OMIM:258315
HP:0002991	Abnormality of fibula morphology	727857	BHLHA9	ORPHA:3329
HP:0002991	Abnormality of fibula morphology	658	BMPR1B	ORPHA:2098
HP:0002991	Abnormality of fibula morphology	3636	INPPL1	ORPHA:3144
HP:0002991	Abnormality of fibula morphology	23169	SLC35D1	ORPHA:3144
HP:0002991	Abnormality of fibula morphology	6473	SHOX	OMIM:127300
HP:0002991	Abnormality of fibula morphology	55764	IFT122	OMIM:218330
HP:0002991	Abnormality of fibula morphology	10262	SF3B4	ORPHA:1788
HP:0002991	Abnormality of fibula morphology	64093	SMOC1	ORPHA:1106
HP:0002991	Abnormality of fibula morphology	64093	SMOC1	OMIM:206920
HP:0002991	Abnormality of fibula morphology	5745	PTH1R	ORPHA:79106
HP:0002991	Abnormality of fibula morphology	5745	PTH1R	OMIM:600002
HP:0002991	Abnormality of fibula morphology	27125	AFF4	ORPHA:444077
HP:0002991	Abnormality of fibula morphology	6662	SOX9	ORPHA:140
HP:0002991	Abnormality of fibula morphology	6662	SOX9	OMIM:114290
HP:0002991	Abnormality of fibula morphology	9775	EIF4A3	OMIM:268305
HP:0002991	Abnormality of fibula morphology	1301	COL11A1	OMIM:228520
HP:0002991	Abnormality of fibula morphology	27152	INTU	OMIM:617925
HP:0002991	Abnormality of fibula morphology	4233	MET	OMIM:607278
HP:0002991	Abnormality of fibula morphology	2879	GPX4	ORPHA:93317
HP:0002991	Abnormality of fibula morphology	2879	GPX4	OMIM:250220
HP:0002991	Abnormality of fibula morphology	4921	DDR2	OMIM:271665
HP:0002991	Abnormality of fibula morphology	54187	NANS	OMIM:610442
HP:0002991	Abnormality of fibula morphology	633	BGN	OMIM:300106
HP:0002991	Abnormality of fibula morphology	65992	DDRGK1	OMIM:602557
HP:0002991	Abnormality of fibula morphology	65992	DDRGK1	ORPHA:93352
HP:0002991	Abnormality of fibula morphology	3549	IHH	OMIM:607778
HP:0002991	Abnormality of fibula morphology	124583	CANT1	OMIM:251450
HP:0002991	Abnormality of fibula morphology	2737	GLI3	ORPHA:93322
HP:0002991	Abnormality of fibula morphology	5447	POR	ORPHA:95699
HP:0002991	Abnormality of fibula morphology	545	ATR	OMIM:210600
HP:0002991	Abnormality of fibula morphology	25839	COG4	OMIM:618150
HP:0002991	Abnormality of fibula morphology	5251	PHEX	OMIM:307800
HP:0002991	Abnormality of fibula morphology	57003	CCDC47	OMIM:618268
HP:0002991	Abnormality of fibula morphology	1594	CYP27B1	OMIM:264700
HP:0002991	Abnormality of fibula morphology	1184	CLCN5	OMIM:300554
HP:0002991	Abnormality of fibula morphology	1184	CLCN5	OMIM:300009
HP:0002991	Abnormality of fibula morphology	142680	SLC34A3	OMIM:241530
HP:0002991	Abnormality of fibula morphology	7421	VDR	OMIM:277440
HP:0002991	Abnormality of fibula morphology	2261	FGFR3	ORPHA:85165
HP:0002991	Abnormality of fibula morphology	4853	NOTCH2	OMIM:102500
HP:0002991	Abnormality of fibula morphology	22858	CILK1	OMIM:612651
HP:0002991	Abnormality of fibula morphology	120227	CYP2R1	OMIM:600081
HP:0002991	Abnormality of fibula morphology	871	SERPINH1	OMIM:613848
HP:0002991	Abnormality of fibula morphology	1302	COL11A2	ORPHA:1427
HP:0002991	Abnormality of fibula morphology	202018	TAPT1	OMIM:616897
HP:0002991	Abnormality of fibula morphology	60676	PAPPA2	OMIM:619489
HP:0002991	Abnormality of fibula morphology	10651	MTX2	OMIM:619127
HP:0002992	Abnormality of tibia morphology	4322	MMP13	OMIM:602111
HP:0002992	Abnormality of tibia morphology	4322	MMP13	ORPHA:93356
HP:0002992	Abnormality of tibia morphology	2261	FGFR3	OMIM:616482
HP:0002992	Abnormality of tibia morphology	2261	FGFR3	ORPHA:85165
HP:0002992	Abnormality of tibia morphology	65250	CPLANE1	OMIM:277170
HP:0002992	Abnormality of tibia morphology	1184	CLCN5	OMIM:300554
HP:0002992	Abnormality of tibia morphology	1184	CLCN5	OMIM:300009
HP:0002992	Abnormality of tibia morphology	142680	SLC34A3	OMIM:241530
HP:0002992	Abnormality of tibia morphology	9158	FIBP	ORPHA:500095
HP:0002992	Abnormality of tibia morphology	1594	CYP27B1	ORPHA:289157
HP:0002992	Abnormality of tibia morphology	1594	CYP27B1	OMIM:264700
HP:0002992	Abnormality of tibia morphology	120227	CYP2R1	ORPHA:289157
HP:0002992	Abnormality of tibia morphology	120227	CYP2R1	OMIM:600081
HP:0002992	Abnormality of tibia morphology	2335	FN1	ORPHA:93315
HP:0002992	Abnormality of tibia morphology	1280	COL2A1	ORPHA:93315
HP:0002992	Abnormality of tibia morphology	1280	COL2A1	OMIM:156550
HP:0002992	Abnormality of tibia morphology	23314	SATB2	ORPHA:251028
HP:0002992	Abnormality of tibia morphology	1277	COL1A1	OMIM:259420
HP:0002992	Abnormality of tibia morphology	1277	COL1A1	OMIM:114000
HP:0002992	Abnormality of tibia morphology	1277	COL1A1	OMIM:166210
HP:0002992	Abnormality of tibia morphology	1278	COL1A2	OMIM:259420
HP:0002992	Abnormality of tibia morphology	1278	COL1A2	OMIM:166210
HP:0002992	Abnormality of tibia morphology	6473	SHOX	OMIM:127300
HP:0002992	Abnormality of tibia morphology	6473	SHOX	ORPHA:314795
HP:0002992	Abnormality of tibia morphology	6473	SHOX	ORPHA:240
HP:0002992	Abnormality of tibia morphology	6662	SOX9	ORPHA:140
HP:0002992	Abnormality of tibia morphology	6662	SOX9	OMIM:114290
HP:0002992	Abnormality of tibia morphology	5159	PDGFRB	OMIM:601812
HP:0002992	Abnormality of tibia morphology	22858	CILK1	OMIM:612651
HP:0002992	Abnormality of tibia morphology	64093	SMOC1	OMIM:206920
HP:0002992	Abnormality of tibia morphology	64093	SMOC1	ORPHA:1106
HP:0002992	Abnormality of tibia morphology	4041	LRP5	OMIM:259770
HP:0002992	Abnormality of tibia morphology	388015	RTL1	ORPHA:96334
HP:0002992	Abnormality of tibia morphology	8788	DLK1	ORPHA:96334
HP:0002992	Abnormality of tibia morphology	55384	MEG3	ORPHA:96334
HP:0002992	Abnormality of tibia morphology	2316	FLNA	OMIM:304120
HP:0002992	Abnormality of tibia morphology	2316	FLNA	OMIM:309350
HP:0002992	Abnormality of tibia morphology	64175	P3H1	OMIM:610915
HP:0002992	Abnormality of tibia morphology	54808	DYM	OMIM:223800
HP:0002992	Abnormality of tibia morphology	5251	PHEX	OMIM:307800
HP:0002992	Abnormality of tibia morphology	6023	RMRP	ORPHA:175
HP:0002992	Abnormality of tibia morphology	1758	DMP1	ORPHA:289176
HP:0002992	Abnormality of tibia morphology	5167	ENPP1	ORPHA:289176
HP:0002992	Abnormality of tibia morphology	8218	CLTCL1	ORPHA:453510
HP:0002992	Abnormality of tibia morphology	9469	CHST3	OMIM:143095
HP:0002992	Abnormality of tibia morphology	92344	GORAB	OMIM:231070
HP:0002992	Abnormality of tibia morphology	2317	FLNB	OMIM:108721
HP:0002992	Abnormality of tibia morphology	2317	FLNB	OMIM:108720
HP:0002992	Abnormality of tibia morphology	1302	COL11A2	ORPHA:1427
HP:0002992	Abnormality of tibia morphology	3977	LIFR	OMIM:601559
HP:0002992	Abnormality of tibia morphology	7421	VDR	OMIM:277440
HP:0002992	Abnormality of tibia morphology	5116	PCNT	OMIM:210720
HP:0002992	Abnormality of tibia morphology	5130	PCYT1A	OMIM:608940
HP:0002992	Abnormality of tibia morphology	26040	SETBP1	OMIM:269150
HP:0002992	Abnormality of tibia morphology	26040	SETBP1	ORPHA:798
HP:0002992	Abnormality of tibia morphology	871	SERPINH1	OMIM:613848
HP:0002992	Abnormality of tibia morphology	1593	CYP27A1	ORPHA:909
HP:0002992	Abnormality of tibia morphology	4010	LMX1B	ORPHA:2614
HP:0002992	Abnormality of tibia morphology	7476	WNT7A	ORPHA:2879
HP:0002992	Abnormality of tibia morphology	60	ACTB	ORPHA:64755
HP:0002992	Abnormality of tibia morphology	8200	GDF5	ORPHA:2639
HP:0002992	Abnormality of tibia morphology	658	BMPR1B	ORPHA:2639
HP:0002992	Abnormality of tibia morphology	6916	TBXAS1	ORPHA:1802
HP:0002992	Abnormality of tibia morphology	7040	TGFB1	ORPHA:1328
HP:0002992	Abnormality of tibia morphology	3248	HPGD	ORPHA:1525
HP:0002992	Abnormality of tibia morphology	2131	EXT1	ORPHA:321
HP:0002992	Abnormality of tibia morphology	2132	EXT2	ORPHA:321
HP:0002992	Abnormality of tibia morphology	4763	NF1	ORPHA:363700
HP:0002992	Abnormality of tibia morphology	55636	CHD7	ORPHA:138
HP:0002992	Abnormality of tibia morphology	9723	SEMA3E	ORPHA:138
HP:0002992	Abnormality of tibia morphology	6399	TRAPPC2	ORPHA:93284
HP:0002992	Abnormality of tibia morphology	153241	CEP120	OMIM:616300
HP:0002992	Abnormality of tibia morphology	10082	GPC6	OMIM:258315
HP:0002992	Abnormality of tibia morphology	7355	SLC35A2	ORPHA:356961
HP:0002992	Abnormality of tibia morphology	79087	ALG12	OMIM:607143
HP:0002992	Abnormality of tibia morphology	3549	IHH	OMIM:607778
HP:0002992	Abnormality of tibia morphology	9775	EIF4A3	OMIM:268305
HP:0002992	Abnormality of tibia morphology	27152	INTU	OMIM:617925
HP:0002992	Abnormality of tibia morphology	3911	LAMA5	OMIM:620076
HP:0002992	Abnormality of tibia morphology	29980	DONSON	OMIM:251230
HP:0002992	Abnormality of tibia morphology	4750	NEK1	OMIM:263520
HP:0002992	Abnormality of tibia morphology	727857	BHLHA9	ORPHA:3329
HP:0002992	Abnormality of tibia morphology	727857	BHLHA9	ORPHA:1986
HP:0002992	Abnormality of tibia morphology	57688	ZSWIM6	ORPHA:1827
HP:0002992	Abnormality of tibia morphology	64327	LMBR1	ORPHA:988
HP:0002992	Abnormality of tibia morphology	6469	SHH	ORPHA:988
HP:0002992	Abnormality of tibia morphology	26123	TCTN3	ORPHA:2753
HP:0002992	Abnormality of tibia morphology	2737	GLI3	ORPHA:93322
HP:0002992	Abnormality of tibia morphology	5447	POR	ORPHA:95699
HP:0002992	Abnormality of tibia morphology	219844	HYLS1	OMIM:236680
HP:0002992	Abnormality of tibia morphology	1300	COL10A1	OMIM:156500
HP:0002992	Abnormality of tibia morphology	9131	AIFM1	OMIM:300232
HP:0002992	Abnormality of tibia morphology	1301	COL11A1	OMIM:154780
HP:0002992	Abnormality of tibia morphology	7157	TP53	ORPHA:668
HP:0002992	Abnormality of tibia morphology	5925	RB1	ORPHA:668
HP:0002992	Abnormality of tibia morphology	11200	CHEK2	ORPHA:668
HP:0002992	Abnormality of tibia morphology	79659	DYNC2H1	OMIM:613091
HP:0002992	Abnormality of tibia morphology	538	ATP7A	ORPHA:198
HP:0002992	Abnormality of tibia morphology	5307	PITX1	OMIM:119800
HP:0002992	Abnormality of tibia morphology	2019	EN1	OMIM:619218
HP:0002992	Abnormality of tibia morphology	1299	COL9A3	OMIM:620022
HP:0002992	Abnormality of tibia morphology	1836	SLC26A2	ORPHA:56304
HP:0002992	Abnormality of tibia morphology	55315	SLC29A3	OMIM:602782
HP:0002992	Abnormality of tibia morphology	1298	COL9A2	OMIM:600204
HP:0002992	Abnormality of tibia morphology	1656	DDX6	OMIM:618653
HP:0002992	Abnormality of tibia morphology	57479	PRR12	OMIM:619539
HP:0002992	Abnormality of tibia morphology	9939	RBM8A	ORPHA:3320
HP:0002992	Abnormality of tibia morphology	9939	RBM8A	OMIM:274000
HP:0002992	Abnormality of tibia morphology	6335	SCN9A	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	6335	SCN9A	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	6326	SCN2A	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	6326	SCN2A	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	2554	GABRA1	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	6323	SCN1A	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	6323	SCN1A	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	6324	SCN1B	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	6324	SCN1B	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	57526	PCDH19	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	2566	GABRG2	ORPHA:33069
HP:0002992	Abnormality of tibia morphology	2566	GABRG2	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	112755	STX1B	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	2563	GABRD	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	348980	HCN1	ORPHA:36387
HP:0002992	Abnormality of tibia morphology	84059	ADGRV1	ORPHA:36387
HP:0040071	Abnormal morphology of ulna	23476	BRD4	ORPHA:199
HP:0040071	Abnormal morphology of ulna	9126	SMC3	ORPHA:199
HP:0040071	Abnormal morphology of ulna	8243	SMC1A	ORPHA:199
HP:0040071	Abnormal morphology of ulna	25836	NIPBL	ORPHA:199
HP:0040071	Abnormal morphology of ulna	55869	HDAC8	ORPHA:199
HP:0040071	Abnormal morphology of ulna	5885	RAD21	ORPHA:199
HP:0040071	Abnormal morphology of ulna	5885	RAD21	OMIM:614701
HP:0040071	Abnormal morphology of ulna	11285	B4GALT7	OMIM:130070
HP:0040071	Abnormal morphology of ulna	4091	SMAD6	OMIM:179300
HP:0040071	Abnormal morphology of ulna	6910	TBX5	ORPHA:392
HP:0040071	Abnormal morphology of ulna	57167	SALL4	OMIM:147750
HP:0040071	Abnormal morphology of ulna	57167	SALL4	ORPHA:2307
HP:0040071	Abnormal morphology of ulna	5648	MASP1	OMIM:257920
HP:0040071	Abnormal morphology of ulna	5648	MASP1	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	6154	RPL26	OMIM:614900
HP:0040071	Abnormal morphology of ulna	6804	STX1A	ORPHA:904
HP:0040071	Abnormal morphology of ulna	7461	CLIP2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	84277	DNAJC30	ORPHA:904
HP:0040071	Abnormal morphology of ulna	8468	FKBP6	ORPHA:904
HP:0040071	Abnormal morphology of ulna	5982	RFC2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2969	GTF2I	ORPHA:904
HP:0040071	Abnormal morphology of ulna	3984	LIMK1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	9569	GTF2IRD1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	155382	VPS37D	ORPHA:904
HP:0040071	Abnormal morphology of ulna	155368	METTL27	ORPHA:904
HP:0040071	Abnormal morphology of ulna	114049	BUD23	ORPHA:904
HP:0040071	Abnormal morphology of ulna	7458	EIF4H	ORPHA:904
HP:0040071	Abnormal morphology of ulna	84163	GTF2IRD2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	9275	BCL7B	ORPHA:904
HP:0040071	Abnormal morphology of ulna	26608	TBL2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	653361	NCF1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	135886	TMEM270	ORPHA:904
HP:0040071	Abnormal morphology of ulna	51085	MLXIPL	ORPHA:904
HP:0040071	Abnormal morphology of ulna	51085	MLXIPL	OMIM:194050
HP:0040071	Abnormal morphology of ulna	9031	BAZ1B	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2006	ELN	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2006	ELN	OMIM:194050
HP:0040071	Abnormal morphology of ulna	2122	MECOM	ORPHA:71289
HP:0040071	Abnormal morphology of ulna	2122	MECOM	OMIM:616738
HP:0040071	Abnormal morphology of ulna	157570	ESCO2	ORPHA:3103
HP:0040071	Abnormal morphology of ulna	157570	ESCO2	ORPHA:2319
HP:0040071	Abnormal morphology of ulna	78989	COLEC11	OMIM:265050
HP:0040071	Abnormal morphology of ulna	78989	COLEC11	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	54880	BCOR	OMIM:300166
HP:0040071	Abnormal morphology of ulna	54880	BCOR	ORPHA:2712
HP:0040071	Abnormal morphology of ulna	4094	MAF	ORPHA:1272
HP:0040071	Abnormal morphology of ulna	4094	MAF	OMIM:601088
HP:0040071	Abnormal morphology of ulna	29998	BICRA	OMIM:619325
HP:0040071	Abnormal morphology of ulna	23522	KAT6B	ORPHA:85201
HP:0040071	Abnormal morphology of ulna	23522	KAT6B	OMIM:606170
HP:0040071	Abnormal morphology of ulna	1723	DHODH	OMIM:263750
HP:0040071	Abnormal morphology of ulna	4038	LRP4	ORPHA:3258
HP:0040071	Abnormal morphology of ulna	4038	LRP4	OMIM:212780
HP:0040071	Abnormal morphology of ulna	324	APC	ORPHA:3258
HP:0040071	Abnormal morphology of ulna	63895	PIEZO2	OMIM:248700
HP:0040071	Abnormal morphology of ulna	63895	PIEZO2	ORPHA:2461
HP:0040071	Abnormal morphology of ulna	10584	COLEC10	OMIM:248340
HP:0040071	Abnormal morphology of ulna	10584	COLEC10	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	50945	TBX22	OMIM:302905
HP:0040071	Abnormal morphology of ulna	50945	TBX22	ORPHA:921
HP:0040071	Abnormal morphology of ulna	22800	RRAS2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	867	CBL	ORPHA:648
HP:0040071	Abnormal morphology of ulna	8216	LZTR1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6016	RIT1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6237	RRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5894	RAF1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	22808	MRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	3845	KRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	200734	SPRED2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	4893	NRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6654	SOS1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6655	SOS2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5781	PTPN11	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5922	RASA2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	64131	XYLT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	124583	CANT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	55790	CSGALNACT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	26229	B3GAT3	OMIM:245600
HP:0040071	Abnormal morphology of ulna	29980	DONSON	OMIM:617604
HP:0040071	Abnormal morphology of ulna	53834	FGFRL1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	1487	CTBP1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	3954	LETM1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	7468	NSD2	OMIM:194190
HP:0040071	Abnormal morphology of ulna	10815	CPLX1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	26040	SETBP1	ORPHA:798
HP:0040071	Abnormal morphology of ulna	5573	PRKAR1A	ORPHA:950
HP:0040071	Abnormal morphology of ulna	5144	PDE4D	ORPHA:950
HP:0040071	Abnormal morphology of ulna	8200	GDF5	OMIM:200700
HP:0040071	Abnormal morphology of ulna	8200	GDF5	ORPHA:93388
HP:0040071	Abnormal morphology of ulna	8200	GDF5	OMIM:201250
HP:0040071	Abnormal morphology of ulna	79659	DYNC2H1	OMIM:613091
HP:0040071	Abnormal morphology of ulna	51604	PIGT	OMIM:615398
HP:0040071	Abnormal morphology of ulna	9820	CUL7	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	23363	OBSL1	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	83987	CCDC8	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	145258	GSC	OMIM:602471
HP:0040071	Abnormal morphology of ulna	23233	EXOC6B	OMIM:618395
HP:0040071	Abnormal morphology of ulna	182	JAG1	OMIM:118450
HP:0040071	Abnormal morphology of ulna	3549	IHH	ORPHA:93388
HP:0040071	Abnormal morphology of ulna	3549	IHH	OMIM:607778
HP:0040071	Abnormal morphology of ulna	658	BMPR1B	ORPHA:93388
HP:0040071	Abnormal morphology of ulna	658	BMPR1B	OMIM:609441
HP:0040071	Abnormal morphology of ulna	672	BRCA1	ORPHA:84
HP:0040071	Abnormal morphology of ulna	10459	MAD2L2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	7516	XRCC2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	29089	UBE2T	ORPHA:84
HP:0040071	Abnormal morphology of ulna	675	BRCA2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55120	FANCL	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2177	FANCD2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2175	FANCA	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2187	FANCB	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2176	FANCC	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2178	FANCE	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2188	FANCF	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2189	FANCG	ORPHA:84
HP:0040071	Abnormal morphology of ulna	5888	RAD51	ORPHA:84
HP:0040071	Abnormal morphology of ulna	5889	RAD51C	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55159	RFWD3	ORPHA:84
HP:0040071	Abnormal morphology of ulna	83990	BRIP1	ORPHA:84
HP:0040071	Abnormal morphology of ulna	57697	FANCM	ORPHA:84
HP:0040071	Abnormal morphology of ulna	79728	PALB2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	84464	SLX4	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2072	ERCC4	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55215	FANCI	ORPHA:84
HP:0040071	Abnormal morphology of ulna	9241	NOG	OMIM:186500
HP:0040071	Abnormal morphology of ulna	567	B2M	OMIM:241600
HP:0040071	Abnormal morphology of ulna	55636	CHD7	OMIM:214800
HP:0040071	Abnormal morphology of ulna	4322	MMP13	OMIM:602111
HP:0040071	Abnormal morphology of ulna	9401	RECQL4	OMIM:218600
HP:0040071	Abnormal morphology of ulna	1301	COL11A1	OMIM:154780
HP:0040071	Abnormal morphology of ulna	57020	VPS35L	OMIM:619135
HP:0040071	Abnormal morphology of ulna	5447	POR	OMIM:201750
HP:0040071	Abnormal morphology of ulna	5447	POR	OMIM:207410
HP:0040071	Abnormal morphology of ulna	91179	SCARF2	OMIM:600920
HP:0040071	Abnormal morphology of ulna	54101	RIPK4	OMIM:263650
HP:0040071	Abnormal morphology of ulna	112752	IFT43	OMIM:617866
HP:0040071	Abnormal morphology of ulna	9469	CHST3	OMIM:143095
HP:0040071	Abnormal morphology of ulna	1836	SLC26A2	ORPHA:93307
HP:0040071	Abnormal morphology of ulna	5593	PRKG2	OMIM:619636
HP:0040071	Abnormal morphology of ulna	5116	PCNT	OMIM:210720
HP:0040071	Abnormal morphology of ulna	2316	FLNA	OMIM:304120
HP:0040071	Abnormal morphology of ulna	9939	RBM8A	OMIM:274000
HP:0040071	Abnormal morphology of ulna	3911	LAMA5	OMIM:620076
HP:0040071	Abnormal morphology of ulna	64327	LMBR1	OMIM:200500
HP:0040071	Abnormal morphology of ulna	64327	LMBR1	ORPHA:931
HP:0040071	Abnormal morphology of ulna	8792	TNFRSF11A	OMIM:602080
HP:0040071	Abnormal morphology of ulna	25782	RAB3GAP2	OMIM:212720
HP:0040071	Abnormal morphology of ulna	6473	SHOX	OMIM:249700
HP:0040071	Abnormal morphology of ulna	6638	SNRPN	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	4692	NDN	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	54551	MAGEL2	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	1280	COL2A1	ORPHA:85198
HP:0040071	Abnormal morphology of ulna	4318	MMP9	ORPHA:1040
HP:0040071	Abnormal morphology of ulna	64682	ANAPC1	ORPHA:221008
HP:0040071	Abnormal morphology of ulna	1311	COMP	OMIM:177170
HP:0040071	Abnormal morphology of ulna	1300	COL10A1	ORPHA:174
HP:0040071	Abnormal morphology of ulna	633	BGN	OMIM:300106
HP:0040071	Abnormal morphology of ulna	7291	TWIST1	ORPHA:794
HP:0040071	Abnormal morphology of ulna	2263	FGFR2	ORPHA:794
HP:0040071	Abnormal morphology of ulna	2261	FGFR3	ORPHA:794
HP:0040071	Abnormal morphology of ulna	3207	HOXA11	OMIM:605432
HP:0040071	Abnormal morphology of ulna	126792	B3GALT6	OMIM:609465
HP:0040071	Abnormal morphology of ulna	22856	CHSY1	ORPHA:363417
HP:0040071	Abnormal morphology of ulna	4920	ROR2	OMIM:268310
HP:0040071	Abnormal morphology of ulna	7476	WNT7A	OMIM:228930
HP:0040071	Abnormal morphology of ulna	727857	BHLHA9	ORPHA:3329
HP:0040071	Abnormal morphology of ulna	727857	BHLHA9	ORPHA:1986
HP:0040071	Abnormal morphology of ulna	2317	FLNB	OMIM:108720
HP:0040071	Abnormal morphology of ulna	10262	SF3B4	ORPHA:1788
HP:0040071	Abnormal morphology of ulna	6926	TBX3	ORPHA:3138
HP:0040071	Abnormal morphology of ulna	5980	REV3L	ORPHA:570
HP:0040071	Abnormal morphology of ulna	23129	PLXND1	ORPHA:570
HP:0040071	Abnormal morphology of ulna	5604	MAP2K1	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	5605	MAP2K2	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	673	BRAF	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	7040	TGFB1	ORPHA:1328
HP:0040071	Abnormal morphology of ulna	2131	EXT1	ORPHA:321
HP:0040071	Abnormal morphology of ulna	2132	EXT2	ORPHA:321
HP:0040071	Abnormal morphology of ulna	9555	MACROH2A1	ORPHA:1275
HP:0040071	Abnormal morphology of ulna	5307	PITX1	ORPHA:1275
HP:0040071	Abnormal morphology of ulna	175	AGA	ORPHA:93
HP:0002999	Patellar dislocation	375	ARF1	ORPHA:98892
HP:0002999	Patellar dislocation	4131	MAP1B	ORPHA:98892
HP:0002999	Patellar dislocation	2316	FLNA	ORPHA:98892
HP:0002999	Patellar dislocation	23327	NEDD4L	ORPHA:98892
HP:0002999	Patellar dislocation	160418	TMTC3	ORPHA:98892
HP:0002999	Patellar dislocation	10564	ARFGEF2	ORPHA:98892
HP:0002999	Patellar dislocation	55780	ERMARD	ORPHA:98892
HP:0002999	Patellar dislocation	50515	CHST11	OMIM:618167
HP:0002999	Patellar dislocation	1387	CREBBP	OMIM:180849
HP:0002999	Patellar dislocation	1387	CREBBP	ORPHA:353277
HP:0002999	Patellar dislocation	1387	CREBBP	ORPHA:353281
HP:0002999	Patellar dislocation	2033	EP300	OMIM:180849
HP:0002999	Patellar dislocation	2033	EP300	ORPHA:353284
HP:0002999	Patellar dislocation	23522	KAT6B	OMIM:606170
HP:0002999	Patellar dislocation	23522	KAT6B	OMIM:603736
HP:0002999	Patellar dislocation	7528	YY1	OMIM:617557
HP:0002999	Patellar dislocation	4010	LMX1B	ORPHA:2614
HP:0002999	Patellar dislocation	4010	LMX1B	OMIM:161200
HP:0002999	Patellar dislocation	4010	LMX1B	ORPHA:495818
HP:0002999	Patellar dislocation	91461	PKDCC	OMIM:618821
HP:0002999	Patellar dislocation	6804	STX1A	ORPHA:904
HP:0002999	Patellar dislocation	7461	CLIP2	ORPHA:904
HP:0002999	Patellar dislocation	84277	DNAJC30	ORPHA:904
HP:0002999	Patellar dislocation	8468	FKBP6	ORPHA:904
HP:0002999	Patellar dislocation	5982	RFC2	ORPHA:904
HP:0002999	Patellar dislocation	2969	GTF2I	ORPHA:904
HP:0002999	Patellar dislocation	3984	LIMK1	ORPHA:904
HP:0002999	Patellar dislocation	9569	GTF2IRD1	ORPHA:904
HP:0002999	Patellar dislocation	155382	VPS37D	ORPHA:904
HP:0002999	Patellar dislocation	155368	METTL27	ORPHA:904
HP:0002999	Patellar dislocation	114049	BUD23	ORPHA:904
HP:0002999	Patellar dislocation	7458	EIF4H	ORPHA:904
HP:0002999	Patellar dislocation	84163	GTF2IRD2	ORPHA:904
HP:0002999	Patellar dislocation	9275	BCL7B	ORPHA:904
HP:0002999	Patellar dislocation	26608	TBL2	ORPHA:904
HP:0002999	Patellar dislocation	653361	NCF1	ORPHA:904
HP:0002999	Patellar dislocation	135886	TMEM270	ORPHA:904
HP:0002999	Patellar dislocation	51085	MLXIPL	ORPHA:904
HP:0002999	Patellar dislocation	9031	BAZ1B	ORPHA:904
HP:0002999	Patellar dislocation	2006	ELN	ORPHA:904
HP:0002999	Patellar dislocation	9496	TBX4	OMIM:147891
HP:0002999	Patellar dislocation	9939	RBM8A	ORPHA:3320
HP:0002999	Patellar dislocation	9939	RBM8A	OMIM:274000
HP:0002999	Patellar dislocation	100151683	RNU4ATAC	ORPHA:1824
HP:0002999	Patellar dislocation	8200	GDF5	ORPHA:968
HP:0002999	Patellar dislocation	8200	GDF5	OMIM:228900
HP:0002999	Patellar dislocation	5351	PLOD1	ORPHA:1900
HP:0002999	Patellar dislocation	1312	COMT	ORPHA:567
HP:0002999	Patellar dislocation	221037	JMJD1C	ORPHA:567
HP:0002999	Patellar dislocation	2812	GP1BB	ORPHA:567
HP:0002999	Patellar dislocation	6239	RREB1	ORPHA:567
HP:0002999	Patellar dislocation	6899	TBX1	ORPHA:567
HP:0002999	Patellar dislocation	6899	TBX1	OMIM:188400
HP:0002999	Patellar dislocation	7290	HIRA	ORPHA:567
HP:0002999	Patellar dislocation	9632	SEC24C	ORPHA:567
HP:0002999	Patellar dislocation	7353	UFD1	ORPHA:567
HP:0002999	Patellar dislocation	421	ARVCF	ORPHA:567
HP:0002999	Patellar dislocation	64131	XYLT1	ORPHA:1425
HP:0002999	Patellar dislocation	124583	CANT1	ORPHA:1425
HP:0002999	Patellar dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0002999	Patellar dislocation	2317	FLNB	ORPHA:56305
HP:0002999	Patellar dislocation	10682	EBP	OMIM:302960
HP:0002999	Patellar dislocation	10682	EBP	ORPHA:35173
HP:0002999	Patellar dislocation	1277	COL1A1	ORPHA:287
HP:0002999	Patellar dislocation	1289	COL5A1	ORPHA:287
HP:0002999	Patellar dislocation	1290	COL5A2	ORPHA:287
HP:0002999	Patellar dislocation	1836	SLC26A2	OMIM:222600
HP:0002999	Patellar dislocation	23233	EXOC6B	OMIM:618395
HP:0002999	Patellar dislocation	2535	FZD2	ORPHA:93328
HP:0002999	Patellar dislocation	6812	STXBP1	ORPHA:495818
HP:0002999	Patellar dislocation	2201	FBN2	OMIM:121050
HP:0002999	Patellar dislocation	4853	NOTCH2	ORPHA:955
HP:0002999	Patellar dislocation	4952	OCRL	ORPHA:534
HP:0002999	Patellar dislocation	10586	MAB21L2	OMIM:615877
HP:0002999	Patellar dislocation	6261	RYR1	ORPHA:178145
HP:0002999	Patellar dislocation	63895	PIEZO2	OMIM:108145
HP:0002999	Patellar dislocation	54928	BPNT2	OMIM:614078
HP:0002999	Patellar dislocation	5567	PRKACB	OMIM:619143
HP:0005400	Reduction of neutrophil motility	55343	SLC35C1	OMIM:266265
HP:0005400	Reduction of neutrophil motility	5880	RAC2	OMIM:608203
HP:0005400	Reduction of neutrophil motility	5373	PMM2	ORPHA:79318
HP:0005400	Reduction of neutrophil motility	1053	CEBPE	OMIM:260570
HP:0005400	Reduction of neutrophil motility	3937	LCP2	OMIM:619374
HP:0005400	Reduction of neutrophil motility	134218	DNAJC21	ORPHA:811
HP:0005400	Reduction of neutrophil motility	79631	EFL1	ORPHA:811
HP:0005400	Reduction of neutrophil motility	51119	SBDS	ORPHA:811
HP:0005400	Reduction of neutrophil motility	6729	SRP54	ORPHA:811
HP:0005401	Recurrent candida infections	7535	ZAP70	OMIM:269840
HP:0005401	Recurrent candida infections	10804	GJB6	ORPHA:477
HP:0005401	Recurrent candida infections	2706	GJB2	ORPHA:477
HP:0005401	Recurrent candida infections	3575	IL7R	ORPHA:169154
HP:0005401	Recurrent candida infections	915	CD3D	ORPHA:169160
HP:0005401	Recurrent candida infections	916	CD3E	ORPHA:169160
HP:0005401	Recurrent candida infections	919	CD247	ORPHA:169160
HP:0005401	Recurrent candida infections	919	CD247	OMIM:610163
HP:0005401	Recurrent candida infections	5994	RFXAP	ORPHA:572
HP:0005401	Recurrent candida infections	4261	CIITA	ORPHA:572
HP:0005401	Recurrent candida infections	5993	RFX5	ORPHA:572
HP:0005401	Recurrent candida infections	8625	RFXANK	ORPHA:572
HP:0005401	Recurrent candida infections	55630	SLC39A4	OMIM:201100
HP:0005401	Recurrent candida infections	9841	ZBTB24	OMIM:614069
HP:0005401	Recurrent candida infections	686	BTD	ORPHA:79241
HP:0005401	Recurrent candida infections	3594	IL12RB1	ORPHA:319552
HP:0005401	Recurrent candida infections	81704	DOCK8	ORPHA:217390
HP:0011840	Abnormality of T cell physiology	7454	WAS	OMIM:301000
HP:0011840	Abnormality of T cell physiology	843	CASP10	OMIM:603909
HP:0011840	Abnormality of T cell physiology	5873	RAB27A	OMIM:607624
HP:0011840	Abnormality of T cell physiology	56160	NSMCE3	OMIM:617241
HP:0011840	Abnormality of T cell physiology	355	FAS	OMIM:601859
HP:0011840	Abnormality of T cell physiology	356	FASLG	OMIM:601859
HP:0011840	Abnormality of T cell physiology	100	ADA	ORPHA:277
HP:0011840	Abnormality of T cell physiology	5994	RFXAP	ORPHA:572
HP:0011840	Abnormality of T cell physiology	4261	CIITA	ORPHA:572
HP:0011840	Abnormality of T cell physiology	5993	RFX5	ORPHA:572
HP:0011840	Abnormality of T cell physiology	8625	RFXANK	ORPHA:572
HP:0011840	Abnormality of T cell physiology	3718	JAK3	ORPHA:35078
HP:0011840	Abnormality of T cell physiology	57724	EPG5	OMIM:242840
HP:0011840	Abnormality of T cell physiology	841	CASP8	OMIM:607271
HP:0011840	Abnormality of T cell physiology	3953	LEPR	ORPHA:179494
HP:0011840	Abnormality of T cell physiology	3952	LEP	ORPHA:66628
HP:0011840	Abnormality of T cell physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0011840	Abnormality of T cell physiology	959	CD40LG	OMIM:308230
HP:0011840	Abnormality of T cell physiology	146206	CARMIL2	OMIM:618131
HP:0011840	Abnormality of T cell physiology	7372	UMPS	ORPHA:30
HP:0011840	Abnormality of T cell physiology	7372	UMPS	OMIM:258900
HP:0011840	Abnormality of T cell physiology	6899	TBX1	OMIM:188400
HP:0011840	Abnormality of T cell physiology	6899	TBX1	OMIM:192430
HP:0011840	Abnormality of T cell physiology	6899	TBX1	ORPHA:567
HP:0011840	Abnormality of T cell physiology	23495	TNFRSF13B	OMIM:240500
HP:0011840	Abnormality of T cell physiology	115650	TNFRSF13C	OMIM:240500
HP:0011840	Abnormality of T cell physiology	1380	CR2	OMIM:240500
HP:0011840	Abnormality of T cell physiology	29851	ICOS	OMIM:240500
HP:0011840	Abnormality of T cell physiology	29851	ICOS	OMIM:607594
HP:0011840	Abnormality of T cell physiology	930	CD19	OMIM:240500
HP:0011840	Abnormality of T cell physiology	55630	SLC39A4	OMIM:201100
HP:0011840	Abnormality of T cell physiology	204	AK2	OMIM:267500
HP:0011840	Abnormality of T cell physiology	57511	COG6	OMIM:614576
HP:0011840	Abnormality of T cell physiology	50485	SMARCAL1	ORPHA:1830
HP:0011840	Abnormality of T cell physiology	4860	PNP	OMIM:613179
HP:0011840	Abnormality of T cell physiology	9993	DGCR2	OMIM:192430
HP:0011840	Abnormality of T cell physiology	8220	ESS2	OMIM:192430
HP:0011840	Abnormality of T cell physiology	8214	DGCR6	OMIM:192430
HP:0011840	Abnormality of T cell physiology	54487	DGCR8	OMIM:192430
HP:0011840	Abnormality of T cell physiology	1312	COMT	ORPHA:567
HP:0011840	Abnormality of T cell physiology	221037	JMJD1C	ORPHA:567
HP:0011840	Abnormality of T cell physiology	2812	GP1BB	ORPHA:567
HP:0011840	Abnormality of T cell physiology	6239	RREB1	ORPHA:567
HP:0011840	Abnormality of T cell physiology	7290	HIRA	ORPHA:567
HP:0011840	Abnormality of T cell physiology	9632	SEC24C	ORPHA:567
HP:0011840	Abnormality of T cell physiology	7353	UFD1	ORPHA:567
HP:0011840	Abnormality of T cell physiology	421	ARVCF	ORPHA:567
HP:0011840	Abnormality of T cell physiology	2625	GATA3	ORPHA:2237
HP:0011840	Abnormality of T cell physiology	3123	HLA-DRB1	OMIM:181000
HP:0011840	Abnormality of T cell physiology	57591	MRTFA	OMIM:618847
HP:0011840	Abnormality of T cell physiology	1503	CTPS1	OMIM:615897
HP:0011840	Abnormality of T cell physiology	10125	RASGRP1	OMIM:618534
HP:0011840	Abnormality of T cell physiology	916	CD3E	OMIM:615615
HP:0011840	Abnormality of T cell physiology	3978	LIG1	OMIM:619774
HP:0011840	Abnormality of T cell physiology	7040	TGFB1	OMIM:618213
HP:0011840	Abnormality of T cell physiology	7456	WIPF1	OMIM:614493
HP:0011840	Abnormality of T cell physiology	84061	MAGT1	OMIM:300853
HP:0011840	Abnormality of T cell physiology	5896	RAG1	ORPHA:331206
HP:0011840	Abnormality of T cell physiology	5897	RAG2	ORPHA:331206
HP:0011840	Abnormality of T cell physiology	1794	DOCK2	OMIM:616433
HP:0011840	Abnormality of T cell physiology	5238	PGM3	ORPHA:443811
HP:0011840	Abnormality of T cell physiology	84433	CARD11	OMIM:615206
HP:0011840	Abnormality of T cell physiology	3937	LCP2	OMIM:619374
HP:0005404	Increased B cell count	5788	PTPRC	OMIM:619924
HP:0005404	Increased B cell count	843	CASP10	OMIM:603909
HP:0005404	Increased B cell count	843	CASP10	ORPHA:3261
HP:0005404	Increased B cell count	5580	PRKCD	OMIM:615559
HP:0005404	Increased B cell count	5580	PRKCD	ORPHA:3261
HP:0005404	Increased B cell count	355	FAS	ORPHA:3261
HP:0005404	Increased B cell count	356	FASLG	ORPHA:3261
HP:0005404	Increased B cell count	10125	RASGRP1	ORPHA:3261
HP:0005404	Increased B cell count	3071	NCKAP1L	OMIM:618982
HP:0005404	Increased B cell count	84433	CARD11	OMIM:616452
HP:0005407	Decreased proportion of CD4-positive helper T cells	2137	EXTL3	ORPHA:508533
HP:0005407	Decreased proportion of CD4-positive helper T cells	3561	IL2RG	ORPHA:276
HP:0005407	Decreased proportion of CD4-positive helper T cells	3561	IL2RG	OMIM:312863
HP:0005407	Decreased proportion of CD4-positive helper T cells	57724	EPG5	OMIM:242840
HP:0005407	Decreased proportion of CD4-positive helper T cells	355	FAS	ORPHA:3261
HP:0005407	Decreased proportion of CD4-positive helper T cells	356	FASLG	ORPHA:3261
HP:0005407	Decreased proportion of CD4-positive helper T cells	5580	PRKCD	ORPHA:3261
HP:0005407	Decreased proportion of CD4-positive helper T cells	843	CASP10	ORPHA:3261
HP:0005407	Decreased proportion of CD4-positive helper T cells	10125	RASGRP1	ORPHA:3261
HP:0005407	Decreased proportion of CD4-positive helper T cells	5994	RFXAP	ORPHA:572
HP:0005407	Decreased proportion of CD4-positive helper T cells	4261	CIITA	ORPHA:572
HP:0005407	Decreased proportion of CD4-positive helper T cells	5993	RFX5	ORPHA:572
HP:0005407	Decreased proportion of CD4-positive helper T cells	8625	RFXANK	ORPHA:572
HP:0005407	Decreased proportion of CD4-positive helper T cells	7454	WAS	OMIM:301000
HP:0005407	Decreased proportion of CD4-positive helper T cells	84061	MAGT1	OMIM:300853
HP:0005407	Decreased proportion of CD4-positive helper T cells	10043	TOM1	OMIM:619510
HP:0005407	Decreased proportion of CD4-positive helper T cells	3702	ITK	OMIM:613011
HP:0005407	Decreased proportion of CD4-positive helper T cells	10625	IVNS1ABP	OMIM:618969
HP:0005407	Decreased proportion of CD4-positive helper T cells	5238	PGM3	ORPHA:443811
HP:0005407	Decreased proportion of CD4-positive helper T cells	3551	IKBKB	OMIM:618204
HP:0005407	Decreased proportion of CD4-positive helper T cells	3932	LCK	OMIM:615758
HP:0005407	Decreased proportion of CD4-positive helper T cells	54440	SASH3	OMIM:301082
HP:0005407	Decreased proportion of CD4-positive helper T cells	9094	UNC119	OMIM:615518
HP:0005407	Decreased proportion of CD4-positive helper T cells	5293	PIK3CD	ORPHA:221139
HP:0005407	Decreased proportion of CD4-positive helper T cells	90417	KNSTRN	ORPHA:221139
HP:0005407	Decreased proportion of CD4-positive helper T cells	4609	MYC	ORPHA:543
HP:0005407	Decreased proportion of CD4-positive helper T cells	3575	IL7R	ORPHA:169154
HP:0005407	Decreased proportion of CD4-positive helper T cells	81704	DOCK8	OMIM:243700
HP:0005407	Decreased proportion of CD4-positive helper T cells	56160	NSMCE3	OMIM:617241
HP:0005407	Decreased proportion of CD4-positive helper T cells	472	ATM	OMIM:208900
HP:0005407	Decreased proportion of CD4-positive helper T cells	3953	LEPR	ORPHA:179494
HP:0005407	Decreased proportion of CD4-positive helper T cells	3952	LEP	ORPHA:66628
HP:0005421	Decreased circulating complement C3 concentration	84823	LMNB2	OMIM:608709
HP:0005421	Decreased circulating complement C3 concentration	84823	LMNB2	ORPHA:79087
HP:0005421	Decreased circulating complement C3 concentration	1776	DNASE1L3	OMIM:614420
HP:0005421	Decreased circulating complement C3 concentration	55690	PACS1	ORPHA:329224
HP:0005421	Decreased circulating complement C3 concentration	5580	PRKCD	OMIM:615559
HP:0005421	Decreased circulating complement C3 concentration	3426	CFI	OMIM:610984
HP:0005421	Decreased circulating complement C3 concentration	3426	CFI	OMIM:612923
HP:0005421	Decreased circulating complement C3 concentration	4179	CD46	OMIM:612922
HP:0005421	Decreased circulating complement C3 concentration	6775	STAT4	ORPHA:93552
HP:0005421	Decreased circulating complement C3 concentration	6696	SPP1	ORPHA:93552
HP:0005421	Decreased circulating complement C3 concentration	3654	IRAK1	ORPHA:93552
HP:0005421	Decreased circulating complement C3 concentration	718	C3	OMIM:613779
HP:0005421	Decreased circulating complement C3 concentration	718	C3	OMIM:612925
HP:0005421	Decreased circulating complement C3 concentration	7056	THBD	OMIM:612926
HP:0005421	Decreased circulating complement C3 concentration	3075	CFH	OMIM:235400
HP:0005421	Decreased circulating complement C3 concentration	3078	CFHR1	OMIM:235400
HP:0005421	Decreased circulating complement C3 concentration	10878	CFHR3	OMIM:235400
HP:0005421	Decreased circulating complement C3 concentration	51284	TLR7	OMIM:301080
HP:0005413	Increased alpha-globulin	213	ALB	ORPHA:86816
HP:0005415	Decreased proportion of CD8-positive T cells	2137	EXTL3	ORPHA:508533
HP:0005415	Decreased proportion of CD8-positive T cells	3575	IL7R	ORPHA:169154
HP:0005415	Decreased proportion of CD8-positive T cells	7454	WAS	OMIM:301000
HP:0005415	Decreased proportion of CD8-positive T cells	56160	NSMCE3	OMIM:617241
HP:0005415	Decreased proportion of CD8-positive T cells	7456	WIPF1	OMIM:614493
HP:0005415	Decreased proportion of CD8-positive T cells	3551	IKBKB	OMIM:618204
HP:0005415	Decreased proportion of CD8-positive T cells	5294	PIK3CG	OMIM:619802
HP:0005415	Decreased proportion of CD8-positive T cells	917	CD3G	OMIM:615607
HP:0005415	Decreased proportion of CD8-positive T cells	3561	IL2RG	OMIM:312863
HP:0005415	Decreased proportion of CD8-positive T cells	7535	ZAP70	OMIM:269840
HP:0005415	Decreased proportion of CD8-positive T cells	7535	ZAP70	ORPHA:911
HP:0005415	Decreased proportion of CD8-positive T cells	925	CD8A	OMIM:608957
HP:0005416	Decreased circulating complement factor B concentration	3426	CFI	OMIM:610984
HP:0005416	Decreased circulating complement factor B concentration	3075	CFH	OMIM:235400
HP:0005416	Decreased circulating complement factor B concentration	3078	CFHR1	OMIM:235400
HP:0005416	Decreased circulating complement factor B concentration	10878	CFHR3	OMIM:235400
HP:0005416	Decreased circulating complement factor B concentration	629	CFB	OMIM:615561
HP:0005422	Absence of CD8-positive T cells	7535	ZAP70	OMIM:269840
HP:0005422	Absence of CD8-positive T cells	7535	ZAP70	ORPHA:911
HP:0005422	Absence of CD8-positive T cells	925	CD8A	OMIM:608957
HP:0005423	Dysfunctional alternative complement pathway	5199	CFP	OMIM:312060
HP:0005424	Absent specific antibody response	100	ADA	OMIM:102700
HP:0005424	Absent specific antibody response	56259	CTNNBL1	OMIM:619846
HP:0005425	Recurrent sinopulmonary infections	25981	DNAH1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	115948	ODAD3	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	54768	HYDIN	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	352909	DNAAF3	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	27148	STK36	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	51314	NME8	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	92749	DRC1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	54970	TTC12	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	152110	NEK10	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	8481	OFD1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	2302	FOXJ1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	221421	RSPH9	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	85478	CCDC65	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	55036	CCDC40	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	51364	ZMYND10	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	64446	DNAI2	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	6674	SPAG1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	83544	DNAL1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	89765	RSPH1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	83538	ODAD4	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	200373	CFAP221	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	374407	DNAJB13	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	55172	DNAAF2	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	161582	DNAAF4	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	2622	GAS8	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	23639	DNAAF11	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	27019	DNAI1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	345895	RSPH4A	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	54919	DNAAF5	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	6103	RPGR	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	388389	CCDC103	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	93233	ODAD1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	55130	ODAD2	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	1767	DNAH5	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	83861	RSPH3	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	345643	MCIDAS	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	56683	CFAP298	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	79925	SPEF2	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	10309	CCNO	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	115399	LRRC56	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	139212	DNAAF6	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	123872	DNAAF1	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	85016	CFAP300	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	339829	CCDC39	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	8701	DNAH11	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	1770	DNAH9	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	246176	GAS2L2	ORPHA:244
HP:0005425	Recurrent sinopulmonary infections	10312	TCIRG1	ORPHA:486
HP:0005425	Recurrent sinopulmonary infections	1991	ELANE	ORPHA:486
HP:0005425	Recurrent sinopulmonary infections	2672	GFI1	ORPHA:486
HP:0005425	Recurrent sinopulmonary infections	6729	SRP54	ORPHA:486
HP:0005425	Recurrent sinopulmonary infections	81570	CLPB	ORPHA:486
HP:0005425	Recurrent sinopulmonary infections	23495	TNFRSF13B	OMIM:609529
HP:0005425	Recurrent sinopulmonary infections	1080	CFTR	ORPHA:498359
HP:0005425	Recurrent sinopulmonary infections	81704	DOCK8	OMIM:243700
HP:0005425	Recurrent sinopulmonary infections	6774	STAT3	OMIM:147060
HP:0005425	Recurrent sinopulmonary infections	7037	TFRC	OMIM:616740
HP:0005425	Recurrent sinopulmonary infections	60468	BACH2	OMIM:618394
HP:0005425	Recurrent sinopulmonary infections	23545	ATP6V0A2	ORPHA:2834
HP:0005425	Recurrent sinopulmonary infections	4790	NFKB1	OMIM:616576
HP:0005425	Recurrent sinopulmonary infections	841	CASP8	OMIM:607271
HP:0005425	Recurrent sinopulmonary infections	5336	PLCG2	OMIM:614878
HP:0005425	Recurrent sinopulmonary infections	5336	PLCG2	OMIM:614468
HP:0005425	Recurrent sinopulmonary infections	5293	PIK3CD	OMIM:615513
HP:0005425	Recurrent sinopulmonary infections	56259	CTNNBL1	OMIM:619846
HP:0005425	Recurrent sinopulmonary infections	5294	PIK3CG	OMIM:619802
HP:0005425	Recurrent sinopulmonary infections	4683	NBN	ORPHA:647
HP:0005428	Severe recurrent varicella	3561	IL2RG	ORPHA:276
HP:0005428	Severe recurrent varicella	9138	ARHGEF1	OMIM:618459
HP:0005429	Recurrent systemic pyogenic infections	1130	LYST	OMIM:214500
HP:0005429	Recurrent systemic pyogenic infections	2859	GPR35	ORPHA:171
HP:0005429	Recurrent systemic pyogenic infections	10507	SEMA4D	ORPHA:171
HP:0005429	Recurrent systemic pyogenic infections	4485	MST1	ORPHA:171
HP:0005429	Recurrent systemic pyogenic infections	6925	TCF4	ORPHA:171
HP:0005437	Recurrent infections in infancy and early childhood	6901	TAFAZZIN	OMIM:302060
HP:0001911	Abnormal granulocyte morphology	54888	NSUN2	ORPHA:235
HP:0001911	Abnormal granulocyte morphology	4615	MYD88	ORPHA:33226
HP:0001911	Abnormal granulocyte morphology	9015	TAF1A	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	5663	PSEN1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	6389	SDHA	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7112	TMPO	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	9464	HAND2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	4625	MYH7	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	88	ACTN2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	10486	CAP2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	10060	ABCC9	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7168	TPM1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7414	VCL	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	1832	DSP	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	70	ACTC1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	27063	ANKRD1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	8048	CSRP3	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	1410	CRYAB	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	4000	LMNA	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7139	TNNT2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	1829	DSG2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	3910	LAMA4	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	63976	PRDM16	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7273	TTN	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	10587	TXNRD2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	9531	BAG3	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	5350	PLN	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	91624	NEXN	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	79717	PPCS	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	5664	PSEN2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	4624	MYH6	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	9529	BAG5	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	4607	MYBPC3	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	282996	RBM20	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7137	TNNI3	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	11155	LDB3	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	2274	FHL2	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	22845	DOLK	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	5894	RAF1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	1756	DMD	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	57798	GATAD1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	7134	TNNC1	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	84665	MYPN	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	1674	DES	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	6444	SGCD	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	6331	SCN5A	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	2218	FKTN	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	8557	TCAP	ORPHA:154
HP:0001911	Abnormal granulocyte morphology	3106	HLA-B	ORPHA:36426
HP:0001911	Abnormal granulocyte morphology	10320	IKZF1	ORPHA:36426
HP:0001911	Abnormal granulocyte morphology	80169	CTC1	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	26277	TINF2	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	55651	NHP2	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	79650	USB1	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	55135	WRAP53	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	51750	RTEL1	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	4869	NPM1	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	7012	TERC	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	55505	NOP10	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	5073	PARN	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	7015	TERT	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	1736	DKC1	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	7298	TYMS	ORPHA:1775
HP:0001911	Abnormal granulocyte morphology	3070	HELLS	ORPHA:2268
HP:0001911	Abnormal granulocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0001911	Abnormal granulocyte morphology	83879	CDCA7	ORPHA:2268
HP:0001911	Abnormal granulocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0001911	Abnormal granulocyte morphology	219285	SAMD9L	ORPHA:2585
HP:0001911	Abnormal granulocyte morphology	4689	NCF4	ORPHA:379
HP:0001911	Abnormal granulocyte morphology	4594	MMUT	ORPHA:289916
HP:0001911	Abnormal granulocyte morphology	4594	MMUT	OMIM:251000
HP:0001911	Abnormal granulocyte morphology	4594	MMUT	ORPHA:79312
HP:0001911	Abnormal granulocyte morphology	695	BTK	OMIM:300755
HP:0001911	Abnormal granulocyte morphology	695	BTK	ORPHA:47
HP:0001911	Abnormal granulocyte morphology	26235	FBXL4	OMIM:615471
HP:0001911	Abnormal granulocyte morphology	54892	NCAPG2	OMIM:618460
HP:0001911	Abnormal granulocyte morphology	23241	PACS2	OMIM:618067
HP:0001911	Abnormal granulocyte morphology	6948	TCN2	OMIM:275350
HP:0001911	Abnormal granulocyte morphology	6948	TCN2	ORPHA:859
HP:0001911	Abnormal granulocyte morphology	6218	RPS17	OMIM:612527
HP:0001911	Abnormal granulocyte morphology	6218	RPS17	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	959	CD40LG	OMIM:308230
HP:0001911	Abnormal granulocyte morphology	5551	PRF1	ORPHA:540
HP:0001911	Abnormal granulocyte morphology	5551	PRF1	ORPHA:88
HP:0001911	Abnormal granulocyte morphology	8676	STX11	ORPHA:540
HP:0001911	Abnormal granulocyte morphology	8676	STX11	OMIM:603552
HP:0001911	Abnormal granulocyte morphology	6813	STXBP2	ORPHA:540
HP:0001911	Abnormal granulocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0001911	Abnormal granulocyte morphology	10559	SLC35A1	OMIM:603585
HP:0001911	Abnormal granulocyte morphology	54809	SAMD9	OMIM:619041
HP:0001911	Abnormal granulocyte morphology	114803	MYSM1	ORPHA:508542
HP:0001911	Abnormal granulocyte morphology	9948	WDR1	OMIM:150550
HP:0001911	Abnormal granulocyte morphology	2175	FANCA	OMIM:227650
HP:0001911	Abnormal granulocyte morphology	2120	ETV6	OMIM:616216
HP:0001911	Abnormal granulocyte morphology	55215	FANCI	OMIM:609053
HP:0001911	Abnormal granulocyte morphology	4552	MTRR	ORPHA:2169
HP:0001911	Abnormal granulocyte morphology	65082	VPS33A	OMIM:617303
HP:0001911	Abnormal granulocyte morphology	55788	LMBRD1	OMIM:277380
HP:0001911	Abnormal granulocyte morphology	55788	LMBRD1	ORPHA:79284
HP:0001911	Abnormal granulocyte morphology	973	CD79A	OMIM:613501
HP:0001911	Abnormal granulocyte morphology	973	CD79A	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	29760	BLNK	OMIM:613502
HP:0001911	Abnormal granulocyte morphology	29760	BLNK	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	9837	GINS1	OMIM:617827
HP:0001911	Abnormal granulocyte morphology	2122	MECOM	OMIM:616738
HP:0001911	Abnormal granulocyte morphology	331	XIAP	OMIM:308240
HP:0001911	Abnormal granulocyte morphology	4068	SH2D1A	OMIM:308240
HP:0001911	Abnormal granulocyte morphology	8029	CUBN	ORPHA:35858
HP:0001911	Abnormal granulocyte morphology	81693	AMN	ORPHA:35858
HP:0001911	Abnormal granulocyte morphology	54	ACP5	OMIM:607944
HP:0001911	Abnormal granulocyte morphology	3458	IFNG	ORPHA:88
HP:0001911	Abnormal granulocyte morphology	2530	FUT8	OMIM:618005
HP:0001911	Abnormal granulocyte morphology	7037	TFRC	OMIM:616740
HP:0001911	Abnormal granulocyte morphology	816	CAMK2B	OMIM:617799
HP:0001911	Abnormal granulocyte morphology	92579	G6PC3	OMIM:612541
HP:0001911	Abnormal granulocyte morphology	28956	LAMTOR2	ORPHA:90023
HP:0001911	Abnormal granulocyte morphology	28956	LAMTOR2	OMIM:610798
HP:0001911	Abnormal granulocyte morphology	8546	AP3B1	OMIM:608233
HP:0001911	Abnormal granulocyte morphology	157680	VPS13B	OMIM:216550
HP:0001911	Abnormal granulocyte morphology	157680	VPS13B	ORPHA:193
HP:0001911	Abnormal granulocyte morphology	5095	PCCA	OMIM:606054
HP:0001911	Abnormal granulocyte morphology	5096	PCCB	OMIM:606054
HP:0001911	Abnormal granulocyte morphology	112812	FDX2	OMIM:251900
HP:0001911	Abnormal granulocyte morphology	958	CD40	OMIM:606843
HP:0001911	Abnormal granulocyte morphology	2178	FANCE	OMIM:600901
HP:0001911	Abnormal granulocyte morphology	4478	MSN	OMIM:300988
HP:0001911	Abnormal granulocyte morphology	4700	NDUFA6	OMIM:618253
HP:0001911	Abnormal granulocyte morphology	175	AGA	OMIM:208400
HP:0001911	Abnormal granulocyte morphology	5826	ABCD4	OMIM:614857
HP:0001911	Abnormal granulocyte morphology	326625	MMAB	OMIM:251110
HP:0001911	Abnormal granulocyte morphology	5873	RAB27A	ORPHA:79477
HP:0001911	Abnormal granulocyte morphology	2328	FMO3	OMIM:602079
HP:0001911	Abnormal granulocyte morphology	8943	AP3D1	OMIM:617050
HP:0001911	Abnormal granulocyte morphology	2623	GATA1	OMIM:300835
HP:0001911	Abnormal granulocyte morphology	2623	GATA1	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	29927	SEC61A1	OMIM:617056
HP:0001911	Abnormal granulocyte morphology	6135	RPL11	OMIM:612562
HP:0001911	Abnormal granulocyte morphology	6135	RPL11	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	9401	RECQL4	ORPHA:221016
HP:0001911	Abnormal granulocyte morphology	6201	RPS7	OMIM:612563
HP:0001911	Abnormal granulocyte morphology	6201	RPS7	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6154	RPL26	OMIM:614900
HP:0001911	Abnormal granulocyte morphology	6154	RPL26	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6789	STK4	OMIM:614868
HP:0001911	Abnormal granulocyte morphology	4796	TONSL	ORPHA:93357
HP:0001911	Abnormal granulocyte morphology	4796	TONSL	OMIM:271510
HP:0001911	Abnormal granulocyte morphology	7036	TFR2	OMIM:604250
HP:0001911	Abnormal granulocyte morphology	166785	MMAA	OMIM:251100
HP:0001911	Abnormal granulocyte morphology	3507	IGHM	OMIM:601495
HP:0001911	Abnormal granulocyte morphology	3507	IGHM	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	25839	COG4	OMIM:618150
HP:0001911	Abnormal granulocyte morphology	6141	RPL18	OMIM:618310
HP:0001911	Abnormal granulocyte morphology	6141	RPL18	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	3845	KRAS	OMIM:614470
HP:0001911	Abnormal granulocyte morphology	4893	NRAS	OMIM:614470
HP:0001911	Abnormal granulocyte morphology	150274	HSCB	OMIM:619523
HP:0001911	Abnormal granulocyte morphology	11311	VPS45	OMIM:615285
HP:0001911	Abnormal granulocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0001911	Abnormal granulocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0001911	Abnormal granulocyte morphology	57724	EPG5	OMIM:242840
HP:0001911	Abnormal granulocyte morphology	2937	GSS	OMIM:266130
HP:0001911	Abnormal granulocyte morphology	2177	FANCD2	OMIM:227646
HP:0001911	Abnormal granulocyte morphology	2176	FANCC	OMIM:227645
HP:0001911	Abnormal granulocyte morphology	2189	FANCG	OMIM:614082
HP:0001911	Abnormal granulocyte morphology	84522	JAGN1	OMIM:616022
HP:0001911	Abnormal granulocyte morphology	5295	PIK3R1	OMIM:615214
HP:0001911	Abnormal granulocyte morphology	5295	PIK3R1	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	4194	MDM4	OMIM:618849
HP:0001911	Abnormal granulocyte morphology	25974	MMACHC	ORPHA:79282
HP:0001911	Abnormal granulocyte morphology	25974	MMACHC	OMIM:277400
HP:0001911	Abnormal granulocyte morphology	51567	TDP2	OMIM:616949
HP:0001911	Abnormal granulocyte morphology	404672	GTF2H5	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	404672	GTF2H5	OMIM:616395
HP:0001911	Abnormal granulocyte morphology	833	CARS1	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	2068	ERCC2	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	7737	RNF113A	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	6897	TARS1	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	2071	ERCC3	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0001911	Abnormal granulocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0001911	Abnormal granulocyte morphology	6223	RPS19	OMIM:105650
HP:0001911	Abnormal granulocyte morphology	6223	RPS19	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6138	RPL15	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6229	RPS24	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6125	RPL5	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6204	RPS10	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6224	RPS20	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6165	RPL35A	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6232	RPS27	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6231	RPS26	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	11224	RPL35	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6160	RPL31	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6155	RPL27	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6210	RPS15A	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	90121	TSR2	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	6235	RPS29	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	51816	ADA2	ORPHA:124
HP:0001911	Abnormal granulocyte morphology	5371	PML	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	5914	RARA	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	81608	FIP1L1	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	54880	BCOR	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	64859	NABP1	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	6777	STAT5B	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	4926	NUMA1	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	7704	ZBTB16	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0001911	Abnormal granulocyte morphology	10459	MAD2L2	OMIM:617243
HP:0001911	Abnormal granulocyte morphology	96459	FNIP1	OMIM:619705
HP:0001911	Abnormal granulocyte morphology	27429	HTRA2	OMIM:617248
HP:0001911	Abnormal granulocyte morphology	7319	UBE2A	ORPHA:163956
HP:0001911	Abnormal granulocyte morphology	55294	FBXW7	OMIM:620012
HP:0001911	Abnormal granulocyte morphology	5052	PRDX1	OMIM:277400
HP:0001911	Abnormal granulocyte morphology	10456	HAX1	OMIM:610738
HP:0001911	Abnormal granulocyte morphology	6929	TCF3	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	974	CD79B	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	3543	IGLL1	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	56262	LRRC8A	ORPHA:33110
HP:0001911	Abnormal granulocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0001911	Abnormal granulocyte morphology	7456	WIPF1	ORPHA:906
HP:0001911	Abnormal granulocyte morphology	2859	GPR35	ORPHA:171
HP:0001911	Abnormal granulocyte morphology	10507	SEMA4D	ORPHA:171
HP:0001911	Abnormal granulocyte morphology	4485	MST1	ORPHA:171
HP:0001911	Abnormal granulocyte morphology	6925	TCF4	ORPHA:171
HP:0001911	Abnormal granulocyte morphology	7454	WAS	OMIM:301000
HP:0001911	Abnormal granulocyte morphology	30009	TBX21	OMIM:619630
HP:0001911	Abnormal granulocyte morphology	5159	PDGFRB	OMIM:131440
HP:0001911	Abnormal granulocyte morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001911	Abnormal granulocyte morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001911	Abnormal granulocyte morphology	5156	PDGFRA	OMIM:607685
HP:0001911	Abnormal granulocyte morphology	6023	RMRP	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	55636	CHD7	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	3981	LIG4	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	5897	RAG2	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	5897	RAG2	OMIM:603554
HP:0001911	Abnormal granulocyte morphology	5897	RAG2	ORPHA:331206
HP:0001911	Abnormal granulocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	64421	DCLRE1C	OMIM:603554
HP:0001911	Abnormal granulocyte morphology	64421	DCLRE1C	OMIM:602450
HP:0001911	Abnormal granulocyte morphology	100	ADA	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	100	ADA	OMIM:102700
HP:0001911	Abnormal granulocyte morphology	3575	IL7R	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	3575	IL7R	ORPHA:169154
HP:0001911	Abnormal granulocyte morphology	3561	IL2RG	ORPHA:39041
HP:0001911	Abnormal granulocyte morphology	825	CAPN3	OMIM:253600
HP:0001911	Abnormal granulocyte morphology	113235	SLC46A1	ORPHA:90045
HP:0001911	Abnormal granulocyte morphology	1041	CDSN	OMIM:270300
HP:0001911	Abnormal granulocyte morphology	8517	IKBKG	ORPHA:464
HP:0001911	Abnormal granulocyte morphology	8517	IKBKG	OMIM:308300
HP:0001911	Abnormal granulocyte morphology	6720	SREBF1	OMIM:158310
HP:0001911	Abnormal granulocyte morphology	3716	JAK1	OMIM:618999
HP:0001911	Abnormal granulocyte morphology	114548	NLRP3	OMIM:607115
HP:0001911	Abnormal granulocyte morphology	84905	ZNF341	OMIM:618282
HP:0001911	Abnormal granulocyte morphology	915	CD3D	ORPHA:169160
HP:0001911	Abnormal granulocyte morphology	916	CD3E	ORPHA:169160
HP:0001911	Abnormal granulocyte morphology	919	CD247	ORPHA:169160
HP:0001911	Abnormal granulocyte morphology	919	CD247	OMIM:610163
HP:0001911	Abnormal granulocyte morphology	10999	SLC27A4	ORPHA:88621
HP:0001911	Abnormal granulocyte morphology	64919	BCL11B	OMIM:617237
HP:0001911	Abnormal granulocyte morphology	64919	BCL11B	OMIM:618092
HP:0001911	Abnormal granulocyte morphology	3572	IL6ST	OMIM:618523
HP:0001911	Abnormal granulocyte morphology	84433	CARD11	OMIM:617638
HP:0001911	Abnormal granulocyte morphology	9939	RBM8A	OMIM:274000
HP:0001911	Abnormal granulocyte morphology	10312	TCIRG1	ORPHA:486
HP:0001911	Abnormal granulocyte morphology	2672	GFI1	ORPHA:486
HP:0001911	Abnormal granulocyte morphology	81704	DOCK8	OMIM:243700
HP:0001911	Abnormal granulocyte morphology	7535	ZAP70	ORPHA:911
HP:0001911	Abnormal granulocyte morphology	56244	BTNL2	ORPHA:797
HP:0001911	Abnormal granulocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0001911	Abnormal granulocyte morphology	5896	RAG1	ORPHA:231154
HP:0001911	Abnormal granulocyte morphology	2215	FCGR3B	ORPHA:464370
HP:0001911	Abnormal granulocyte morphology	355	FAS	ORPHA:3261
HP:0001911	Abnormal granulocyte morphology	355	FAS	OMIM:601859
HP:0001911	Abnormal granulocyte morphology	356	FASLG	ORPHA:3261
HP:0001911	Abnormal granulocyte morphology	356	FASLG	OMIM:601859
HP:0001911	Abnormal granulocyte morphology	5580	PRKCD	ORPHA:3261
HP:0001911	Abnormal granulocyte morphology	843	CASP10	ORPHA:3261
HP:0001911	Abnormal granulocyte morphology	843	CASP10	OMIM:603909
HP:0001911	Abnormal granulocyte morphology	10125	RASGRP1	ORPHA:3261
HP:0001911	Abnormal granulocyte morphology	5994	RFXAP	ORPHA:572
HP:0001911	Abnormal granulocyte morphology	4261	CIITA	ORPHA:572
HP:0001911	Abnormal granulocyte morphology	5993	RFX5	ORPHA:572
HP:0001911	Abnormal granulocyte morphology	8625	RFXANK	ORPHA:572
HP:0001911	Abnormal granulocyte morphology	6772	STAT1	ORPHA:391487
HP:0001911	Abnormal granulocyte morphology	10043	TOM1	ORPHA:391487
HP:0001911	Abnormal granulocyte morphology	7174	TPP2	OMIM:619220
HP:0001911	Abnormal granulocyte morphology	6774	STAT3	OMIM:615952
HP:0001911	Abnormal granulocyte morphology	50943	FOXP3	ORPHA:37042
HP:0001911	Abnormal granulocyte morphology	4860	PNP	OMIM:613179
HP:0001911	Abnormal granulocyte morphology	5238	PGM3	ORPHA:443811
HP:0001911	Abnormal granulocyte morphology	5294	PIK3CG	OMIM:619802
HP:0001911	Abnormal granulocyte morphology	54440	SASH3	OMIM:301082
HP:0001911	Abnormal granulocyte morphology	83737	ITCH	ORPHA:228426
HP:0001911	Abnormal granulocyte morphology	29851	ICOS	OMIM:607594
HP:0001911	Abnormal granulocyte morphology	51099	ABHD5	ORPHA:98907
HP:0001911	Abnormal granulocyte morphology	613	BCR	ORPHA:521
HP:0001911	Abnormal granulocyte morphology	25	ABL1	ORPHA:521
HP:0001911	Abnormal granulocyte morphology	201294	UNC13D	OMIM:608898
HP:0001911	Abnormal granulocyte morphology	6234	RPS28	OMIM:606164
HP:0001911	Abnormal granulocyte morphology	4688	NCF2	OMIM:233710
HP:0001911	Abnormal granulocyte morphology	79415	CYBC1	OMIM:618935
HP:0001911	Abnormal granulocyte morphology	1536	CYBB	OMIM:306400
HP:0001911	Abnormal granulocyte morphology	653361	NCF1	OMIM:233700
HP:0001911	Abnormal granulocyte morphology	84888	SPPL2A	OMIM:619549
HP:0001911	Abnormal granulocyte morphology	1535	CYBA	OMIM:233690
HP:0001911	Abnormal granulocyte morphology	10841	FTCD	OMIM:229100
HP:0001911	Abnormal granulocyte morphology	119559	SFXN4	OMIM:615578
HP:0001911	Abnormal granulocyte morphology	6573	SLC19A1	OMIM:601775
HP:0001911	Abnormal granulocyte morphology	4522	MTHFD1	OMIM:617780
HP:0001911	Abnormal granulocyte morphology	1991	ELANE	OMIM:202700
HP:0001911	Abnormal granulocyte morphology	204	AK2	OMIM:267500
HP:0001911	Abnormal granulocyte morphology	51594	NBAS	OMIM:614800
HP:0001911	Abnormal granulocyte morphology	3930	LBR	OMIM:169400
HP:0001911	Abnormal granulocyte morphology	3930	LBR	OMIM:618019
HP:0001911	Abnormal granulocyte morphology	23451	SF3B1	ORPHA:75564
HP:0001911	Abnormal granulocyte morphology	10430	TMEM147	OMIM:620075
HP:0001911	Abnormal granulocyte morphology	90268	OTULIN	OMIM:617099
HP:0001911	Abnormal granulocyte morphology	3394	IRF8	OMIM:226990
HP:0001911	Abnormal granulocyte morphology	4598	MVK	OMIM:260920
HP:0001911	Abnormal granulocyte morphology	26525	IL36RN	OMIM:614204
HP:0001911	Abnormal granulocyte morphology	4210	MEFV	ORPHA:3243
HP:0001911	Abnormal granulocyte morphology	4210	MEFV	OMIM:249100
HP:0001911	Abnormal granulocyte morphology	1441	CSF3R	OMIM:162830
HP:0001911	Abnormal granulocyte morphology	55343	SLC35C1	OMIM:266265
HP:0001911	Abnormal granulocyte morphology	55343	SLC35C1	ORPHA:99843
HP:0001911	Abnormal granulocyte morphology	5293	PIK3CD	OMIM:619281
HP:0001911	Abnormal granulocyte morphology	57169	ZNFX1	OMIM:619644
HP:0001911	Abnormal granulocyte morphology	5971	RELB	OMIM:617585
HP:0001911	Abnormal granulocyte morphology	3557	IL1RN	OMIM:612852
HP:0001911	Abnormal granulocyte morphology	5880	RAC2	OMIM:608203
HP:0001911	Abnormal granulocyte morphology	7187	TRAF3	ORPHA:1930
HP:0001911	Abnormal granulocyte morphology	81622	UNC93B1	ORPHA:1930
HP:0001911	Abnormal granulocyte morphology	148022	TICAM1	ORPHA:1930
HP:0001911	Abnormal granulocyte morphology	7098	TLR3	ORPHA:1930
HP:0001911	Abnormal granulocyte morphology	29110	TBK1	ORPHA:1930
HP:0001911	Abnormal granulocyte morphology	2624	GATA2	ORPHA:3226
HP:0001911	Abnormal granulocyte morphology	7852	CXCR4	ORPHA:51636
HP:0001911	Abnormal granulocyte morphology	6208	RPS14	ORPHA:86841
HP:0001911	Abnormal granulocyte morphology	2821	GPI	OMIM:613470
HP:0001911	Abnormal granulocyte morphology	51311	TLR8	OMIM:301078
HP:0001911	Abnormal granulocyte morphology	1053	CEBPE	OMIM:245480
HP:0001911	Abnormal granulocyte morphology	6603	SMARCD2	OMIM:617475
HP:0001911	Abnormal granulocyte morphology	1130	LYST	ORPHA:167
HP:0001911	Abnormal granulocyte morphology	60468	BACH2	OMIM:618394
HP:0001911	Abnormal granulocyte morphology	84196	USP48	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	7157	TP53	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	9101	USP8	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	64072	CDH23	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	2908	NR3C1	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	673	BRAF	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	546	ATRX	ORPHA:96253
HP:0001911	Abnormal granulocyte morphology	29775	CARD10	OMIM:619632
HP:0001911	Abnormal granulocyte morphology	2137	EXTL3	ORPHA:508533
HP:0001911	Abnormal granulocyte morphology	11005	SPINK5	OMIM:256500
HP:0001911	Abnormal granulocyte morphology	64170	CARD9	OMIM:212050
HP:0001911	Abnormal granulocyte morphology	10526	IPO8	OMIM:619472
HP:0001911	Abnormal granulocyte morphology	28755	TRAC	OMIM:615387
HP:0001911	Abnormal granulocyte morphology	22861	NLRP1	OMIM:617388
HP:0001911	Abnormal granulocyte morphology	8288	EPX	OMIM:261500
HP:0001911	Abnormal granulocyte morphology	4627	MYH9	OMIM:155100
HP:0001911	Abnormal granulocyte morphology	5373	PMM2	ORPHA:79318
HP:0001911	Abnormal granulocyte morphology	3937	LCP2	OMIM:619374
HP:0001911	Abnormal granulocyte morphology	6901	TAFAZZIN	OMIM:302060
HP:0001911	Abnormal granulocyte morphology	340665	CYP26C1	ORPHA:398189
HP:0001911	Abnormal granulocyte morphology	171023	ASXL1	ORPHA:98850
HP:0001911	Abnormal granulocyte morphology	171023	ASXL1	ORPHA:98849
HP:0001911	Abnormal granulocyte morphology	54790	TET2	ORPHA:98850
HP:0001911	Abnormal granulocyte morphology	54790	TET2	ORPHA:98849
HP:0001911	Abnormal granulocyte morphology	867	CBL	ORPHA:98850
HP:0001911	Abnormal granulocyte morphology	861	RUNX1	ORPHA:98850
HP:0001911	Abnormal granulocyte morphology	6427	SRSF2	ORPHA:98850
HP:0001911	Abnormal granulocyte morphology	6427	SRSF2	ORPHA:98849
HP:0001911	Abnormal granulocyte morphology	3815	KIT	ORPHA:98849
HP:0001911	Abnormal granulocyte morphology	3579	CXCR2	OMIM:619407
HP:0001911	Abnormal granulocyte morphology	987	LRBA	OMIM:614700
HP:0001911	Abnormal granulocyte morphology	51645	PPIL1	OMIM:619301
HP:0001911	Abnormal granulocyte morphology	51362	CDC40	OMIM:619302
HP:0001911	Abnormal granulocyte morphology	2542	SLC37A4	ORPHA:79259
HP:0001911	Abnormal granulocyte morphology	9158	FIBP	OMIM:617107
HP:0001911	Abnormal granulocyte morphology	9158	FIBP	ORPHA:500095
HP:0001911	Abnormal granulocyte morphology	6688	SPI1	OMIM:619707
HP:0001911	Abnormal granulocyte morphology	51135	IRAK4	OMIM:607676
HP:0001911	Abnormal granulocyte morphology	134218	DNAJC21	ORPHA:811
HP:0001911	Abnormal granulocyte morphology	79631	EFL1	ORPHA:811
HP:0001911	Abnormal granulocyte morphology	51119	SBDS	ORPHA:811
HP:0001911	Abnormal granulocyte morphology	6729	SRP54	ORPHA:811
HP:0001911	Abnormal granulocyte morphology	81570	CLPB	ORPHA:445038
HP:0005439	Maxillozygomatic hypoplasia	10992	SF3B2	OMIM:164210
HP:0000268	Dolichocephaly	128	ADH5	OMIM:619151
HP:0000268	Dolichocephaly	7528	YY1	ORPHA:506358
HP:0000268	Dolichocephaly	7528	YY1	OMIM:617557
HP:0000268	Dolichocephaly	2218	FKTN	ORPHA:272
HP:0000268	Dolichocephaly	7421	VDR	ORPHA:93160
HP:0000268	Dolichocephaly	11253	MAN1B1	ORPHA:397941
HP:0000268	Dolichocephaly	11253	MAN1B1	OMIM:614202
HP:0000268	Dolichocephaly	28981	IFT81	OMIM:617895
HP:0000268	Dolichocephaly	9853	RUSC2	OMIM:617773
HP:0000268	Dolichocephaly	8506	CNTNAP1	OMIM:618186
HP:0000268	Dolichocephaly	23135	KDM6B	OMIM:618505
HP:0000268	Dolichocephaly	8425	LTBP4	OMIM:613177
HP:0000268	Dolichocephaly	51126	NAA20	OMIM:619717
HP:0000268	Dolichocephaly	9820	CUL7	ORPHA:2616
HP:0000268	Dolichocephaly	9820	CUL7	OMIM:273750
HP:0000268	Dolichocephaly	23363	OBSL1	ORPHA:2616
HP:0000268	Dolichocephaly	23363	OBSL1	OMIM:612921
HP:0000268	Dolichocephaly	83987	CCDC8	ORPHA:2616
HP:0000268	Dolichocephaly	83987	CCDC8	OMIM:614205
HP:0000268	Dolichocephaly	5894	RAF1	OMIM:611554
HP:0000268	Dolichocephaly	5894	RAF1	OMIM:611553
HP:0000268	Dolichocephaly	673	BRAF	OMIM:115150
HP:0000268	Dolichocephaly	673	BRAF	OMIM:613707
HP:0000268	Dolichocephaly	673	BRAF	OMIM:613706
HP:0000268	Dolichocephaly	57539	WDR35	OMIM:613610
HP:0000268	Dolichocephaly	57539	WDR35	ORPHA:1515
HP:0000268	Dolichocephaly	57539	WDR35	OMIM:614091
HP:0000268	Dolichocephaly	3636	INPPL1	ORPHA:3144
HP:0000268	Dolichocephaly	23169	SLC35D1	ORPHA:3144
HP:0000268	Dolichocephaly	5830	PEX5	OMIM:214110
HP:0000268	Dolichocephaly	5830	PEX5	OMIM:202370
HP:0000268	Dolichocephaly	5830	PEX5	ORPHA:44
HP:0000268	Dolichocephaly	64324	NSD1	ORPHA:821
HP:0000268	Dolichocephaly	64324	NSD1	OMIM:117550
HP:0000268	Dolichocephaly	29072	SETD2	ORPHA:821
HP:0000268	Dolichocephaly	10297	APC2	ORPHA:821
HP:0000268	Dolichocephaly	10297	APC2	OMIM:617169
HP:0000268	Dolichocephaly	23118	TAB2	ORPHA:228410
HP:0000268	Dolichocephaly	9578	CDC42BPB	OMIM:619841
HP:0000268	Dolichocephaly	3021	H3-3B	OMIM:619721
HP:0000268	Dolichocephaly	6536	SLC6A9	OMIM:617301
HP:0000268	Dolichocephaly	79639	TMEM53	OMIM:619727
HP:0000268	Dolichocephaly	22858	CILK1	OMIM:612651
HP:0000268	Dolichocephaly	55904	KMT2E	OMIM:618512
HP:0000268	Dolichocephaly	5728	PTEN	ORPHA:2969
HP:0000268	Dolichocephaly	5728	PTEN	ORPHA:109
HP:0000268	Dolichocephaly	5728	PTEN	ORPHA:744
HP:0000268	Dolichocephaly	129563	DIS3L2	ORPHA:2849
HP:0000268	Dolichocephaly	55780	ERMARD	ORPHA:75857
HP:0000268	Dolichocephaly	2263	FGFR2	OMIM:609579
HP:0000268	Dolichocephaly	2263	FGFR2	ORPHA:168624
HP:0000268	Dolichocephaly	2263	FGFR2	ORPHA:1555
HP:0000268	Dolichocephaly	51098	IFT52	ORPHA:1515
HP:0000268	Dolichocephaly	51098	IFT52	OMIM:617102
HP:0000268	Dolichocephaly	57728	WDR19	ORPHA:1515
HP:0000268	Dolichocephaly	3190	HNRNPK	OMIM:616580
HP:0000268	Dolichocephaly	55870	ASH1L	OMIM:617796
HP:0000268	Dolichocephaly	672	BRCA1	ORPHA:84
HP:0000268	Dolichocephaly	10459	MAD2L2	ORPHA:84
HP:0000268	Dolichocephaly	7516	XRCC2	ORPHA:84
HP:0000268	Dolichocephaly	29089	UBE2T	ORPHA:84
HP:0000268	Dolichocephaly	675	BRCA2	ORPHA:84
HP:0000268	Dolichocephaly	55120	FANCL	ORPHA:84
HP:0000268	Dolichocephaly	2177	FANCD2	ORPHA:84
HP:0000268	Dolichocephaly	2175	FANCA	ORPHA:84
HP:0000268	Dolichocephaly	2187	FANCB	ORPHA:84
HP:0000268	Dolichocephaly	2176	FANCC	ORPHA:84
HP:0000268	Dolichocephaly	2178	FANCE	ORPHA:84
HP:0000268	Dolichocephaly	2188	FANCF	ORPHA:84
HP:0000268	Dolichocephaly	2189	FANCG	ORPHA:84
HP:0000268	Dolichocephaly	5888	RAD51	ORPHA:84
HP:0000268	Dolichocephaly	5889	RAD51C	ORPHA:84
HP:0000268	Dolichocephaly	55159	RFWD3	ORPHA:84
HP:0000268	Dolichocephaly	83990	BRIP1	ORPHA:84
HP:0000268	Dolichocephaly	57697	FANCM	ORPHA:84
HP:0000268	Dolichocephaly	79728	PALB2	ORPHA:84
HP:0000268	Dolichocephaly	84464	SLX4	ORPHA:84
HP:0000268	Dolichocephaly	2072	ERCC4	ORPHA:84
HP:0000268	Dolichocephaly	55215	FANCI	ORPHA:84
HP:0000268	Dolichocephaly	7020	TFAP2A	OMIM:113620
HP:0000268	Dolichocephaly	7020	TFAP2A	ORPHA:1297
HP:0000268	Dolichocephaly	9896	FIG4	ORPHA:3472
HP:0000268	Dolichocephaly	9896	FIG4	OMIM:216340
HP:0000268	Dolichocephaly	55697	VAC14	ORPHA:3472
HP:0000268	Dolichocephaly	10815	CPLX1	ORPHA:280
HP:0000268	Dolichocephaly	54872	PIGG	ORPHA:280
HP:0000268	Dolichocephaly	7469	NELFA	ORPHA:280
HP:0000268	Dolichocephaly	1487	CTBP1	ORPHA:280
HP:0000268	Dolichocephaly	3954	LETM1	ORPHA:280
HP:0000268	Dolichocephaly	7468	NSD2	ORPHA:280
HP:0000268	Dolichocephaly	4330	MN1	OMIM:618774
HP:0000268	Dolichocephaly	4297	KMT2A	ORPHA:319182
HP:0000268	Dolichocephaly	23327	NEDD4L	OMIM:617201
HP:0000268	Dolichocephaly	4591	TRIM37	OMIM:253250
HP:0000268	Dolichocephaly	4598	MVK	OMIM:610377
HP:0000268	Dolichocephaly	4598	MVK	ORPHA:29
HP:0000268	Dolichocephaly	2783	GNB2	OMIM:619503
HP:0000268	Dolichocephaly	1747	DLX3	ORPHA:3352
HP:0000268	Dolichocephaly	1747	DLX3	OMIM:190320
HP:0000268	Dolichocephaly	4853	NOTCH2	ORPHA:955
HP:0000268	Dolichocephaly	4534	MTM1	ORPHA:596
HP:0000268	Dolichocephaly	4534	MTM1	OMIM:310400
HP:0000268	Dolichocephaly	253738	EBF3	OMIM:617330
HP:0000268	Dolichocephaly	23312	DMXL2	OMIM:618663
HP:0000268	Dolichocephaly	7701	ZNF142	OMIM:618425
HP:0000268	Dolichocephaly	6134	RPL10	ORPHA:459070
HP:0000268	Dolichocephaly	6134	RPL10	OMIM:300998
HP:0000268	Dolichocephaly	8085	KMT2D	OMIM:620186
HP:0000268	Dolichocephaly	4247	MGAT2	ORPHA:79329
HP:0000268	Dolichocephaly	5700	PSMC1	OMIM:620071
HP:0000268	Dolichocephaly	56098	PCDHGC4	OMIM:619880
HP:0000268	Dolichocephaly	4849	CNOT3	OMIM:618672
HP:0000268	Dolichocephaly	641	BLM	OMIM:210900
HP:0000268	Dolichocephaly	8481	OFD1	OMIM:311200
HP:0000268	Dolichocephaly	55670	PEX26	ORPHA:44
HP:0000268	Dolichocephaly	5828	PEX2	ORPHA:44
HP:0000268	Dolichocephaly	8504	PEX3	ORPHA:44
HP:0000268	Dolichocephaly	9409	PEX16	ORPHA:44
HP:0000268	Dolichocephaly	5190	PEX6	ORPHA:44
HP:0000268	Dolichocephaly	8799	PEX11B	ORPHA:44
HP:0000268	Dolichocephaly	5189	PEX1	ORPHA:44
HP:0000268	Dolichocephaly	5193	PEX12	ORPHA:44
HP:0000268	Dolichocephaly	5194	PEX13	ORPHA:44
HP:0000268	Dolichocephaly	5195	PEX14	ORPHA:44
HP:0000268	Dolichocephaly	5195	PEX14	OMIM:614887
HP:0000268	Dolichocephaly	5192	PEX10	ORPHA:44
HP:0000268	Dolichocephaly	249	ALPL	OMIM:241510
HP:0000268	Dolichocephaly	546	ATRX	OMIM:309580
HP:0000268	Dolichocephaly	4088	SMAD3	OMIM:613795
HP:0000268	Dolichocephaly	4882	NPR2	ORPHA:40
HP:0000268	Dolichocephaly	26173	INTS1	OMIM:618571
HP:0000268	Dolichocephaly	2077	ERF	ORPHA:35093
HP:0000268	Dolichocephaly	60529	ALX4	ORPHA:35093
HP:0000268	Dolichocephaly	6497	SKI	ORPHA:2462
HP:0000268	Dolichocephaly	6497	SKI	OMIM:182212
HP:0000268	Dolichocephaly	54808	DYM	OMIM:607326
HP:0000268	Dolichocephaly	10765	KDM5B	OMIM:618109
HP:0000268	Dolichocephaly	51259	TMEM216	OMIM:608091
HP:0000268	Dolichocephaly	85358	SHANK3	OMIM:606232
HP:0000268	Dolichocephaly	85358	SHANK3	ORPHA:48652
HP:0000268	Dolichocephaly	7681	MKRN3	OMIM:176270
HP:0000268	Dolichocephaly	3653	IPW	OMIM:176270
HP:0000268	Dolichocephaly	54551	MAGEL2	OMIM:176270
HP:0000268	Dolichocephaly	791114	PWRN1	OMIM:176270
HP:0000268	Dolichocephaly	100033413	SNORD116-1	OMIM:176270
HP:0000268	Dolichocephaly	8924	HERC2	OMIM:176270
HP:0000268	Dolichocephaly	145624	PWAR1	OMIM:176270
HP:0000268	Dolichocephaly	23742	NPAP1	OMIM:176270
HP:0000268	Dolichocephaly	338433	SNORD115-1	OMIM:176270
HP:0000268	Dolichocephaly	2702	GJA5	ORPHA:3303
HP:0000268	Dolichocephaly	1482	NKX2-5	ORPHA:3303
HP:0000268	Dolichocephaly	137814	NKX2-6	ORPHA:3303
HP:0000268	Dolichocephaly	23414	ZFPM2	ORPHA:3303
HP:0000268	Dolichocephaly	2626	GATA4	ORPHA:3303
HP:0000268	Dolichocephaly	3791	KDR	ORPHA:3303
HP:0000268	Dolichocephaly	2627	GATA6	ORPHA:3303
HP:0000268	Dolichocephaly	2657	GDF1	ORPHA:3303
HP:0000268	Dolichocephaly	182	JAG1	ORPHA:3303
HP:0000268	Dolichocephaly	6899	TBX1	ORPHA:3303
HP:0000268	Dolichocephaly	140628	GATA5	ORPHA:3303
HP:0000268	Dolichocephaly	2324	FLT4	ORPHA:3303
HP:0000268	Dolichocephaly	10370	CITED2	ORPHA:3303
HP:0000268	Dolichocephaly	411	ARSB	OMIM:253200
HP:0000268	Dolichocephaly	5745	PTH1R	OMIM:600002
HP:0000268	Dolichocephaly	5631	PRPS1	ORPHA:423479
HP:0000268	Dolichocephaly	4854	NOTCH3	OMIM:130720
HP:0000268	Dolichocephaly	4854	NOTCH3	ORPHA:2789
HP:0000268	Dolichocephaly	29998	BICRA	OMIM:619325
HP:0000268	Dolichocephaly	5649	RELN	ORPHA:89844
HP:0000268	Dolichocephaly	10300	KATNB1	ORPHA:89844
HP:0000268	Dolichocephaly	54820	NDE1	ORPHA:89844
HP:0000268	Dolichocephaly	9342	SNAP29	ORPHA:66631
HP:0000268	Dolichocephaly	1289	COL5A1	OMIM:619329
HP:0000268	Dolichocephaly	526	ATP6V1B2	ORPHA:79499
HP:0000268	Dolichocephaly	23221	RHOBTB2	OMIM:618004
HP:0000268	Dolichocephaly	3756	KCNH1	OMIM:135500
HP:0000268	Dolichocephaly	10943	MSL3	OMIM:301032
HP:0000268	Dolichocephaly	633	BGN	OMIM:300989
HP:0000268	Dolichocephaly	51305	KCNK9	ORPHA:166108
HP:0000268	Dolichocephaly	5000	ORC4	OMIM:613800
HP:0000268	Dolichocephaly	116442	RAB39B	OMIM:300271
HP:0000268	Dolichocephaly	9997	SCO2	OMIM:604377
HP:0000268	Dolichocephaly	10526	IPO8	OMIM:619472
HP:0000268	Dolichocephaly	6711	SPTBN1	OMIM:619475
HP:0000268	Dolichocephaly	2254	FGF9	OMIM:612961
HP:0000268	Dolichocephaly	79005	SCNM1	OMIM:620107
HP:0000268	Dolichocephaly	3425	IDUA	ORPHA:93473
HP:0000268	Dolichocephaly	207	AKT1	ORPHA:744
HP:0000268	Dolichocephaly	207	AKT1	OMIM:176920
HP:0000268	Dolichocephaly	11198	SUPT16H	OMIM:619480
HP:0000268	Dolichocephaly	8567	MADD	OMIM:619005
HP:0000268	Dolichocephaly	5297	PI4KA	OMIM:616531
HP:0000268	Dolichocephaly	5297	PI4KA	OMIM:619708
HP:0000268	Dolichocephaly	23233	EXOC6B	OMIM:618395
HP:0000268	Dolichocephaly	83737	ITCH	OMIM:613385
HP:0000268	Dolichocephaly	83737	ITCH	ORPHA:228426
HP:0000268	Dolichocephaly	9702	CEP57	OMIM:614114
HP:0000268	Dolichocephaly	6519	SLC3A1	ORPHA:163690
HP:0000268	Dolichocephaly	9581	PREPL	ORPHA:163690
HP:0000268	Dolichocephaly	9320	TRIP12	OMIM:617752
HP:0000268	Dolichocephaly	5528	PPP2R5D	ORPHA:457279
HP:0000268	Dolichocephaly	100151683	RNU4ATAC	ORPHA:2636
HP:0000268	Dolichocephaly	138050	HGSNAT	OMIM:252930
HP:0000268	Dolichocephaly	4621	MYH3	ORPHA:2990
HP:0000268	Dolichocephaly	1146	CHRNG	ORPHA:2990
HP:0000268	Dolichocephaly	7043	TGFB3	OMIM:615582
HP:0000268	Dolichocephaly	7042	TGFB2	OMIM:614816
HP:0000268	Dolichocephaly	2737	GLI3	ORPHA:672
HP:0000268	Dolichocephaly	2737	GLI3	OMIM:175700
HP:0000268	Dolichocephaly	56992	KIF15	ORPHA:261323
HP:0000268	Dolichocephaly	199857	ALG14	OMIM:619036
HP:0000268	Dolichocephaly	51256	TBC1D7	OMIM:248000
HP:0000268	Dolichocephaly	3423	IDS	OMIM:309900
HP:0000268	Dolichocephaly	3590	IL11RA	OMIM:614188
HP:0000268	Dolichocephaly	1272	CNTN1	OMIM:612540
HP:0000268	Dolichocephaly	7291	TWIST1	OMIM:123100
HP:0000268	Dolichocephaly	3572	IL6ST	OMIM:618523
HP:0000268	Dolichocephaly	1801	DPH1	OMIM:616901
HP:0000268	Dolichocephaly	1801	DPH1	ORPHA:459061
HP:0000268	Dolichocephaly	11133	KPTN	OMIM:615637
HP:0000268	Dolichocephaly	11133	KPTN	ORPHA:397612
HP:0000268	Dolichocephaly	55681	SCYL2	ORPHA:1143
HP:0000268	Dolichocephaly	84570	COL25A1	ORPHA:1143
HP:0000268	Dolichocephaly	57222	ERGIC1	ORPHA:1143
HP:0000268	Dolichocephaly	5824	PEX19	OMIM:614886
HP:0000268	Dolichocephaly	5557	PRIM1	OMIM:620005
HP:0000268	Dolichocephaly	3295	HSD17B4	OMIM:261515
HP:0000268	Dolichocephaly	3845	KRAS	OMIM:609942
HP:0000268	Dolichocephaly	4784	NFIX	ORPHA:420179
HP:0000268	Dolichocephaly	55764	IFT122	OMIM:218330
HP:0000268	Dolichocephaly	6261	RYR1	OMIM:619542
HP:0000268	Dolichocephaly	55553	SOX6	OMIM:618971
HP:0000268	Dolichocephaly	372	ARCN1	OMIM:617164
HP:0000268	Dolichocephaly	9742	IFT140	OMIM:266920
HP:0000268	Dolichocephaly	91179	SCARF2	OMIM:600920
HP:0000268	Dolichocephaly	27161	AGO2	OMIM:619149
HP:0000268	Dolichocephaly	80816	ASXL3	OMIM:615485
HP:0000268	Dolichocephaly	112752	IFT43	OMIM:614099
HP:0000268	Dolichocephaly	10293	TRAIP	OMIM:616777
HP:0000268	Dolichocephaly	23545	ATP6V0A2	OMIM:278250
HP:0000268	Dolichocephaly	2201	FBN2	OMIM:121050
HP:0000268	Dolichocephaly	55753	OGDHL	OMIM:619701
HP:0000268	Dolichocephaly	55623	THUMPD1	OMIM:619989
HP:0000268	Dolichocephaly	2200	FBN1	OMIM:616914
HP:0000268	Dolichocephaly	3762	KCNJ5	ORPHA:37553
HP:0000268	Dolichocephaly	3759	KCNJ2	ORPHA:37553
HP:0005441	Sclerotic cranial sutures	4313	MMP2	ORPHA:371428
HP:0005441	Sclerotic cranial sutures	4313	MMP2	OMIM:259600
HP:0005441	Sclerotic cranial sutures	4323	MMP14	ORPHA:371428
HP:0005442	Widely patent coronal suture	1301	COL11A1	OMIM:228520
HP:0005445	Enlarged posterior fossa	10682	EBP	ORPHA:401973
HP:0005445	Enlarged posterior fossa	10682	EBP	OMIM:300960
HP:0005445	Enlarged posterior fossa	10682	EBP	OMIM:302960
HP:0005445	Enlarged posterior fossa	56896	DPYSL5	OMIM:619435
HP:0005445	Enlarged posterior fossa	3265	HRAS	ORPHA:2612
HP:0005445	Enlarged posterior fossa	3845	KRAS	ORPHA:2612
HP:0005445	Enlarged posterior fossa	4893	NRAS	ORPHA:2612
HP:0005445	Enlarged posterior fossa	4893	NRAS	OMIM:249400
HP:0005445	Enlarged posterior fossa	23556	PIGN	ORPHA:2059
HP:0005445	Enlarged posterior fossa	7355	SLC35A2	ORPHA:356961
HP:0005445	Enlarged posterior fossa	65062	TMEM237	OMIM:614424
HP:0005445	Enlarged posterior fossa	65062	TMEM237	ORPHA:564
HP:0005445	Enlarged posterior fossa	7545	ZIC1	OMIM:616602
HP:0005445	Enlarged posterior fossa	7545	ZIC1	OMIM:618736
HP:0005445	Enlarged posterior fossa	84942	WDR73	OMIM:251300
HP:0005445	Enlarged posterior fossa	2737	GLI3	ORPHA:36
HP:0005445	Enlarged posterior fossa	374654	KIF7	ORPHA:36
HP:0005445	Enlarged posterior fossa	79848	CSPP1	ORPHA:397715
HP:0005445	Enlarged posterior fossa	79848	CSPP1	ORPHA:564
HP:0005445	Enlarged posterior fossa	9786	KIAA0586	ORPHA:397715
HP:0005445	Enlarged posterior fossa	57465	TBC1D24	OMIM:220500
HP:0005445	Enlarged posterior fossa	57465	TBC1D24	ORPHA:79500
HP:0005445	Enlarged posterior fossa	55112	DYNC2I1	ORPHA:93271
HP:0005445	Enlarged posterior fossa	57560	IFT80	ORPHA:93271
HP:0005445	Enlarged posterior fossa	57539	WDR35	ORPHA:93271
HP:0005445	Enlarged posterior fossa	79659	DYNC2H1	ORPHA:93271
HP:0005445	Enlarged posterior fossa	89891	DYNC2I2	ORPHA:93271
HP:0005445	Enlarged posterior fossa	1436	CSF1R	OMIM:618476
HP:0005445	Enlarged posterior fossa	84162	BLTP1	OMIM:617822
HP:0005445	Enlarged posterior fossa	4081	MAB21L1	OMIM:618479
HP:0005445	Enlarged posterior fossa	51259	TMEM216	OMIM:603194
HP:0005445	Enlarged posterior fossa	51259	TMEM216	ORPHA:564
HP:0005445	Enlarged posterior fossa	55636	CHD7	ORPHA:138
HP:0005445	Enlarged posterior fossa	9723	SEMA3E	ORPHA:138
HP:0005445	Enlarged posterior fossa	29954	POMT2	OMIM:236670
HP:0005445	Enlarged posterior fossa	29954	POMT2	ORPHA:899
HP:0005445	Enlarged posterior fossa	9215	LARGE1	OMIM:236670
HP:0005445	Enlarged posterior fossa	9215	LARGE1	ORPHA:899
HP:0005445	Enlarged posterior fossa	9215	LARGE1	OMIM:613154
HP:0005445	Enlarged posterior fossa	79147	FKRP	OMIM:236670
HP:0005445	Enlarged posterior fossa	79147	FKRP	ORPHA:899
HP:0005445	Enlarged posterior fossa	79147	FKRP	OMIM:613153
HP:0005445	Enlarged posterior fossa	10585	POMT1	OMIM:236670
HP:0005445	Enlarged posterior fossa	10585	POMT1	ORPHA:899
HP:0005445	Enlarged posterior fossa	2218	FKTN	OMIM:236670
HP:0005445	Enlarged posterior fossa	2218	FKTN	ORPHA:899
HP:0005445	Enlarged posterior fossa	84892	POMGNT2	ORPHA:899
HP:0005445	Enlarged posterior fossa	148789	B3GALNT2	ORPHA:899
HP:0005445	Enlarged posterior fossa	1282	COL4A1	ORPHA:899
HP:0005445	Enlarged posterior fossa	729920	CRPPA	ORPHA:899
HP:0005445	Enlarged posterior fossa	729920	CRPPA	OMIM:614643
HP:0005445	Enlarged posterior fossa	10329	RXYLT1	ORPHA:899
HP:0005445	Enlarged posterior fossa	1605	DAG1	ORPHA:899
HP:0005445	Enlarged posterior fossa	11041	B4GAT1	ORPHA:899
HP:0005445	Enlarged posterior fossa	11041	B4GAT1	OMIM:615287
HP:0005445	Enlarged posterior fossa	84197	POMK	ORPHA:899
HP:0005445	Enlarged posterior fossa	55624	POMGNT1	ORPHA:899
HP:0005445	Enlarged posterior fossa	79068	FTO	OMIM:612938
HP:0005445	Enlarged posterior fossa	57492	ARID1B	OMIM:135900
HP:0005445	Enlarged posterior fossa	57492	ARID1B	ORPHA:1465
HP:0005445	Enlarged posterior fossa	3899	AFF3	OMIM:619297
HP:0005445	Enlarged posterior fossa	6597	SMARCA4	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6597	SMARCA4	OMIM:614609
HP:0005445	Enlarged posterior fossa	6598	SMARCB1	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6598	SMARCB1	OMIM:614608
HP:0005445	Enlarged posterior fossa	6659	SOX4	ORPHA:1465
HP:0005445	Enlarged posterior fossa	8289	ARID1A	ORPHA:1465
HP:0005445	Enlarged posterior fossa	8289	ARID1A	OMIM:614607
HP:0005445	Enlarged posterior fossa	5977	DPF2	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6601	SMARCC2	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6602	SMARCD1	ORPHA:1465
HP:0005445	Enlarged posterior fossa	196528	ARID2	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6605	SMARCE1	ORPHA:1465
HP:0005445	Enlarged posterior fossa	6605	SMARCE1	OMIM:616938
HP:0005445	Enlarged posterior fossa	6664	SOX11	ORPHA:1465
HP:0005445	Enlarged posterior fossa	23545	ATP6V0A2	ORPHA:2834
HP:0005445	Enlarged posterior fossa	23545	ATP6V0A2	OMIM:219200
HP:0005445	Enlarged posterior fossa	23545	ATP6V0A2	ORPHA:357074
HP:0005445	Enlarged posterior fossa	1801	DPH1	OMIM:616901
HP:0005445	Enlarged posterior fossa	1801	DPH1	ORPHA:459061
HP:0005445	Enlarged posterior fossa	27315	PGAP2	OMIM:614207
HP:0005445	Enlarged posterior fossa	157570	ESCO2	ORPHA:2319
HP:0005445	Enlarged posterior fossa	5340	PLG	ORPHA:722
HP:0005445	Enlarged posterior fossa	5340	PLG	OMIM:217090
HP:0005445	Enlarged posterior fossa	1717	DHCR7	OMIM:270400
HP:0005445	Enlarged posterior fossa	84314	TMEM107	ORPHA:564
HP:0005445	Enlarged posterior fossa	26123	TCTN3	ORPHA:564
HP:0005445	Enlarged posterior fossa	79867	TCTN2	ORPHA:564
HP:0005445	Enlarged posterior fossa	80776	B9D2	ORPHA:564
HP:0005445	Enlarged posterior fossa	80776	B9D2	OMIM:614175
HP:0005445	Enlarged posterior fossa	79600	TCTN1	ORPHA:564
HP:0005445	Enlarged posterior fossa	57096	RPGRIP1	ORPHA:564
HP:0005445	Enlarged posterior fossa	80184	CEP290	ORPHA:564
HP:0005445	Enlarged posterior fossa	80184	CEP290	OMIM:611134
HP:0005445	Enlarged posterior fossa	57545	CC2D2A	ORPHA:564
HP:0005445	Enlarged posterior fossa	79583	TMEM231	ORPHA:564
HP:0005445	Enlarged posterior fossa	79583	TMEM231	ORPHA:2752
HP:0005445	Enlarged posterior fossa	91147	TMEM67	ORPHA:564
HP:0005445	Enlarged posterior fossa	91147	TMEM67	OMIM:607361
HP:0005445	Enlarged posterior fossa	79770	TXNDC15	ORPHA:564
HP:0005445	Enlarged posterior fossa	27077	B9D1	ORPHA:564
HP:0005445	Enlarged posterior fossa	23322	RPGRIP1L	ORPHA:564
HP:0005445	Enlarged posterior fossa	54903	MKS1	ORPHA:564
HP:0005445	Enlarged posterior fossa	54903	MKS1	OMIM:249000
HP:0005445	Enlarged posterior fossa	27031	NPHP3	OMIM:267010
HP:0005445	Enlarged posterior fossa	27031	NPHP3	OMIM:208540
HP:0005445	Enlarged posterior fossa	27031	NPHP3	ORPHA:3032
HP:0005445	Enlarged posterior fossa	23258	DENND5A	OMIM:617281
HP:0005445	Enlarged posterior fossa	171023	ASXL1	ORPHA:97297
HP:0005445	Enlarged posterior fossa	171023	ASXL1	OMIM:605039
HP:0005445	Enlarged posterior fossa	9184	BUB3	ORPHA:1052
HP:0005445	Enlarged posterior fossa	699	BUB1	ORPHA:1052
HP:0005445	Enlarged posterior fossa	9702	CEP57	ORPHA:1052
HP:0005445	Enlarged posterior fossa	9319	TRIP13	ORPHA:1052
HP:0005445	Enlarged posterior fossa	701	BUB1B	ORPHA:1052
HP:0005445	Enlarged posterior fossa	701	BUB1B	OMIM:257300
HP:0005445	Enlarged posterior fossa	84188	FAR1	ORPHA:438178
HP:0005445	Enlarged posterior fossa	84188	FAR1	OMIM:616154
HP:0005445	Enlarged posterior fossa	2260	FGFR1	OMIM:613001
HP:0005445	Enlarged posterior fossa	124997	WDR81	OMIM:617967
HP:0005445	Enlarged posterior fossa	2683	B4GALT1	OMIM:607091
HP:0005445	Enlarged posterior fossa	2683	B4GALT1	ORPHA:79332
HP:0005445	Enlarged posterior fossa	26005	C2CD3	OMIM:615948
HP:0005445	Enlarged posterior fossa	26005	C2CD3	ORPHA:434179
HP:0005445	Enlarged posterior fossa	26227	PHGDH	OMIM:256520
HP:0005445	Enlarged posterior fossa	10804	GJB6	ORPHA:477
HP:0005445	Enlarged posterior fossa	2706	GJB2	ORPHA:477
HP:0005445	Enlarged posterior fossa	4927	NUP88	ORPHA:994
HP:0005445	Enlarged posterior fossa	7846	TUBA1A	ORPHA:994
HP:0005445	Enlarged posterior fossa	4654	MYOD1	ORPHA:994
HP:0005445	Enlarged posterior fossa	4593	MUSK	ORPHA:994
HP:0005445	Enlarged posterior fossa	5913	RAPSN	ORPHA:994
HP:0005445	Enlarged posterior fossa	6572	SLC18A3	ORPHA:994
HP:0005445	Enlarged posterior fossa	285489	DOK7	ORPHA:994
HP:0005445	Enlarged posterior fossa	7737	RNF113A	OMIM:300953
HP:0005445	Enlarged posterior fossa	56006	SMG9	OMIM:616920
HP:0005445	Enlarged posterior fossa	998	CDC42	ORPHA:487796
HP:0005445	Enlarged posterior fossa	51524	TMEM138	OMIM:614465
HP:0005445	Enlarged posterior fossa	8239	USP9X	ORPHA:480880
HP:0005445	Enlarged posterior fossa	8239	USP9X	OMIM:300968
HP:0005445	Enlarged posterior fossa	11128	POLR3A	OMIM:264090
HP:0005445	Enlarged posterior fossa	4534	MTM1	OMIM:310400
HP:0005445	Enlarged posterior fossa	526	ATP6V1B2	ORPHA:79500
HP:0005445	Enlarged posterior fossa	54880	BCOR	OMIM:300166
HP:0005445	Enlarged posterior fossa	203068	TUBB	OMIM:156610
HP:0005445	Enlarged posterior fossa	55640	FLVCR2	OMIM:225790
HP:0005445	Enlarged posterior fossa	28952	CCDC22	OMIM:300963
HP:0005445	Enlarged posterior fossa	28952	CCDC22	ORPHA:7
HP:0005445	Enlarged posterior fossa	80210	ARMC9	OMIM:617622
HP:0005445	Enlarged posterior fossa	5500	PPP1CB	OMIM:617506
HP:0005445	Enlarged posterior fossa	54676	GTPBP2	OMIM:617988
HP:0005445	Enlarged posterior fossa	5373	PMM2	ORPHA:79318
HP:0005445	Enlarged posterior fossa	63895	PIEZO2	OMIM:248700
HP:0005445	Enlarged posterior fossa	9897	WASHC5	OMIM:220210
HP:0005445	Enlarged posterior fossa	9897	WASHC5	ORPHA:7
HP:0005445	Enlarged posterior fossa	2239	GPC4	ORPHA:373
HP:0005445	Enlarged posterior fossa	2719	GPC3	ORPHA:373
HP:0005445	Enlarged posterior fossa	23007	PLCH1	OMIM:619895
HP:0005445	Enlarged posterior fossa	2121	EVC	OMIM:225500
HP:0005445	Enlarged posterior fossa	132884	EVC2	OMIM:225500
HP:0005445	Enlarged posterior fossa	153241	CEP120	OMIM:616300
HP:0005445	Enlarged posterior fossa	523	ATP6V1A	ORPHA:357074
HP:0005445	Enlarged posterior fossa	529	ATP6V1E1	ORPHA:357074
HP:0005445	Enlarged posterior fossa	3798	KIF5A	OMIM:617235
HP:0005445	Enlarged posterior fossa	1028	CDKN1C	OMIM:130650
HP:0005445	Enlarged posterior fossa	10984	KCNQ1OT1	OMIM:130650
HP:0005445	Enlarged posterior fossa	3481	IGF2	OMIM:130650
HP:0005445	Enlarged posterior fossa	3784	KCNQ1	OMIM:130650
HP:0005445	Enlarged posterior fossa	738	VPS51	OMIM:618606
HP:0005445	Enlarged posterior fossa	1376	CPT2	ORPHA:228305
HP:0005445	Enlarged posterior fossa	10195	ALG3	ORPHA:79321
HP:0005445	Enlarged posterior fossa	8481	OFD1	ORPHA:2750
HP:0005445	Enlarged posterior fossa	219844	HYLS1	OMIM:236680
HP:0005445	Enlarged posterior fossa	4281	MID1	ORPHA:2745
HP:0005445	Enlarged posterior fossa	8905	AP1S2	OMIM:304340
HP:0005445	Enlarged posterior fossa	11340	EXOSC8	OMIM:616081
HP:0005445	Enlarged posterior fossa	3572	IL6ST	OMIM:619751
HP:0005445	Enlarged posterior fossa	65250	CPLANE1	OMIM:277170
HP:0005445	Enlarged posterior fossa	348180	CTU2	OMIM:618142
HP:0005445	Enlarged posterior fossa	23241	PACS2	OMIM:618067
HP:0005445	Enlarged posterior fossa	22931	RAB18	OMIM:614222
HP:0005445	Enlarged posterior fossa	2972	BRF1	OMIM:616202
HP:0005445	Enlarged posterior fossa	2972	BRF1	ORPHA:444072
HP:0005445	Enlarged posterior fossa	4983	OPHN1	ORPHA:137831
HP:0005445	Enlarged posterior fossa	4983	OPHN1	OMIM:300486
HP:0005445	Enlarged posterior fossa	23126	POGZ	ORPHA:468678
HP:0005445	Enlarged posterior fossa	64324	NSD1	ORPHA:821
HP:0005445	Enlarged posterior fossa	64324	NSD1	OMIM:117550
HP:0005445	Enlarged posterior fossa	29072	SETD2	ORPHA:821
HP:0005445	Enlarged posterior fossa	10297	APC2	ORPHA:821
HP:0005445	Enlarged posterior fossa	51611	DPH5	OMIM:620070
HP:0005445	Enlarged posterior fossa	128869	PIGU	OMIM:618590
HP:0005445	Enlarged posterior fossa	285590	SH3PXD2B	OMIM:249420
HP:0005445	Enlarged posterior fossa	10300	KATNB1	OMIM:616212
HP:0005445	Enlarged posterior fossa	2317	FLNB	ORPHA:1190
HP:0005445	Enlarged posterior fossa	4849	CNOT3	OMIM:618672
HP:0005445	Enlarged posterior fossa	7443	VRK1	OMIM:607596
HP:0005445	Enlarged posterior fossa	10978	CLP1	OMIM:615803
HP:0005445	Enlarged posterior fossa	9382	COG1	ORPHA:263508
HP:0005445	Enlarged posterior fossa	80267	EDEM3	OMIM:619493
HP:0005445	Enlarged posterior fossa	4718	NDUFC2	OMIM:619170
HP:0005445	Enlarged posterior fossa	5879	RAC1	OMIM:617751
HP:0005445	Enlarged posterior fossa	5879	RAC1	ORPHA:500159
HP:0005445	Enlarged posterior fossa	4125	MAN2B1	OMIM:248500
HP:0005445	Enlarged posterior fossa	267010	RNU12	OMIM:620208
HP:0005445	Enlarged posterior fossa	8815	BANF1	OMIM:614008
HP:0005445	Enlarged posterior fossa	23219	FBXO28	OMIM:619777
HP:0005445	Enlarged posterior fossa	51684	SUFU	OMIM:617757
HP:0005445	Enlarged posterior fossa	284086	NEK8	OMIM:615415
HP:0005445	Enlarged posterior fossa	5430	POLR2A	OMIM:618603
HP:0005445	Enlarged posterior fossa	1000	CDH2	OMIM:618929
HP:0005445	Enlarged posterior fossa	501	ALDH7A1	ORPHA:3006
HP:0005445	Enlarged posterior fossa	11212	PLPBP	ORPHA:3006
HP:0005445	Enlarged posterior fossa	5832	ALDH18A1	ORPHA:447753
HP:0005445	Enlarged posterior fossa	37	ACADVL	ORPHA:26793
HP:0005445	Enlarged posterior fossa	2296	FOXC1	OMIM:601631
HP:0005445	Enlarged posterior fossa	25970	SH2B1	ORPHA:261197
HP:0005445	Enlarged posterior fossa	5307	PITX1	OMIM:119800
HP:0005445	Enlarged posterior fossa	8884	SLC5A6	OMIM:618973
HP:0005445	Enlarged posterior fossa	23203	PMPCA	ORPHA:1170
HP:0005445	Enlarged posterior fossa	51300	TIMMDC1	OMIM:618251
HP:0005445	Enlarged posterior fossa	57716	PRX	OMIM:614895
HP:0005445	Enlarged posterior fossa	8550	MAPKAPK5	OMIM:619869
HP:0005445	Enlarged posterior fossa	7280	TUBB2A	OMIM:615763
HP:0005445	Enlarged posterior fossa	55777	MBD5	OMIM:156200
HP:0005445	Enlarged posterior fossa	10060	ABCC9	OMIM:239850
HP:0005446	Obtuse angle of mandible	2316	FLNA	OMIM:309350
HP:0005446	Obtuse angle of mandible	1513	CTSK	ORPHA:763
HP:0005446	Obtuse angle of mandible	4796	TONSL	ORPHA:93357
HP:0001363	Craniosynostosis	7291	TWIST1	ORPHA:794
HP:0001363	Craniosynostosis	7291	TWIST1	OMIM:123100
HP:0001363	Craniosynostosis	7291	TWIST1	OMIM:180750
HP:0001363	Craniosynostosis	2263	FGFR2	ORPHA:794
HP:0001363	Craniosynostosis	2263	FGFR2	ORPHA:1555
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:123790
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:123150
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:101200
HP:0001363	Craniosynostosis	2261	FGFR3	ORPHA:794
HP:0001363	Craniosynostosis	2261	FGFR3	OMIM:612247
HP:0001363	Craniosynostosis	2261	FGFR3	OMIM:146000
HP:0001363	Craniosynostosis	2137	EXTL3	ORPHA:508533
HP:0001363	Craniosynostosis	4088	SMAD3	ORPHA:284984
HP:0001363	Craniosynostosis	4088	SMAD3	OMIM:613795
HP:0001363	Craniosynostosis	7528	YY1	ORPHA:506358
HP:0001363	Craniosynostosis	60529	ALX4	OMIM:613451
HP:0001363	Craniosynostosis	60529	ALX4	OMIM:615529
HP:0001363	Craniosynostosis	60529	ALX4	ORPHA:60015
HP:0001363	Craniosynostosis	64116	SLC39A8	OMIM:616721
HP:0001363	Craniosynostosis	64116	SLC39A8	ORPHA:468699
HP:0001363	Craniosynostosis	10312	TCIRG1	OMIM:259700
HP:0001363	Craniosynostosis	10312	TCIRG1	ORPHA:667
HP:0001363	Craniosynostosis	1947	EFNB1	ORPHA:1520
HP:0001363	Craniosynostosis	7355	SLC35A2	ORPHA:356961
HP:0001363	Craniosynostosis	57539	WDR35	OMIM:613610
HP:0001363	Craniosynostosis	57539	WDR35	ORPHA:1515
HP:0001363	Craniosynostosis	89970	RSPRY1	OMIM:616723
HP:0001363	Craniosynostosis	89970	RSPRY1	ORPHA:457395
HP:0001363	Craniosynostosis	7545	ZIC1	OMIM:616602
HP:0001363	Craniosynostosis	26115	TANC2	OMIM:618906
HP:0001363	Craniosynostosis	64324	NSD1	ORPHA:821
HP:0001363	Craniosynostosis	29072	SETD2	ORPHA:821
HP:0001363	Craniosynostosis	10297	APC2	ORPHA:821
HP:0001363	Craniosynostosis	1186	CLCN7	ORPHA:667
HP:0001363	Craniosynostosis	29887	SNX10	ORPHA:667
HP:0001363	Craniosynostosis	8600	TNFSF11	ORPHA:667
HP:0001363	Craniosynostosis	5447	POR	ORPHA:95699
HP:0001363	Craniosynostosis	5447	POR	OMIM:201750
HP:0001363	Craniosynostosis	55593	OTUD5	OMIM:301056
HP:0001363	Craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0001363	Craniosynostosis	3190	HNRNPK	OMIM:616580
HP:0001363	Craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0001363	Craniosynostosis	4125	MAN2B1	ORPHA:309282
HP:0001363	Craniosynostosis	4774	NFIA	ORPHA:401986
HP:0001363	Craniosynostosis	249	ALPL	OMIM:241500
HP:0001363	Craniosynostosis	249	ALPL	OMIM:241510
HP:0001363	Craniosynostosis	91179	SCARF2	OMIM:600920
HP:0001363	Craniosynostosis	2737	GLI3	ORPHA:380
HP:0001363	Craniosynostosis	2737	GLI3	OMIM:175700
HP:0001363	Craniosynostosis	6651	SON	OMIM:617140
HP:0001363	Craniosynostosis	27245	AHDC1	ORPHA:412069
HP:0001363	Craniosynostosis	10157	AASS	ORPHA:2203
HP:0001363	Craniosynostosis	79158	GNPTAB	OMIM:252500
HP:0001363	Craniosynostosis	79158	GNPTAB	ORPHA:576
HP:0001363	Craniosynostosis	79158	GNPTAB	OMIM:252600
HP:0001363	Craniosynostosis	112752	IFT43	ORPHA:1515
HP:0001363	Craniosynostosis	51098	IFT52	ORPHA:1515
HP:0001363	Craniosynostosis	55764	IFT122	ORPHA:1515
HP:0001363	Craniosynostosis	57728	WDR19	ORPHA:1515
HP:0001363	Craniosynostosis	4784	NFIX	OMIM:602535
HP:0001363	Craniosynostosis	4784	NFIX	ORPHA:561
HP:0001363	Craniosynostosis	2316	FLNA	OMIM:305620
HP:0001363	Craniosynostosis	2316	FLNA	ORPHA:1826
HP:0001363	Craniosynostosis	284058	KANSL1	ORPHA:363958
HP:0001363	Craniosynostosis	284058	KANSL1	ORPHA:363965
HP:0001363	Craniosynostosis	4052	LTBP1	OMIM:619451
HP:0001363	Craniosynostosis	9739	SETD1A	OMIM:619056
HP:0001363	Craniosynostosis	10265	IRX5	OMIM:611174
HP:0001363	Craniosynostosis	113189	CHST14	ORPHA:2953
HP:0001363	Craniosynostosis	29940	DSE	ORPHA:2953
HP:0001363	Craniosynostosis	6774	STAT3	ORPHA:2314
HP:0001363	Craniosynostosis	6774	STAT3	OMIM:147060
HP:0001363	Craniosynostosis	9968	MED12	ORPHA:93932
HP:0001363	Craniosynostosis	7994	KAT6A	ORPHA:457193
HP:0001363	Craniosynostosis	7994	KAT6A	OMIM:616268
HP:0001363	Craniosynostosis	3572	IL6ST	OMIM:618523
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:190440
HP:0001363	Craniosynostosis	2260	FGFR1	ORPHA:2645
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:123150
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:166250
HP:0001363	Craniosynostosis	2260	FGFR1	ORPHA:2117
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:615465
HP:0001363	Craniosynostosis	4091	SMAD6	OMIM:617439
HP:0001363	Craniosynostosis	81620	CDT1	ORPHA:2554
HP:0001363	Craniosynostosis	5000	ORC4	ORPHA:2554
HP:0001363	Craniosynostosis	23594	ORC6	ORPHA:2554
HP:0001363	Craniosynostosis	8318	CDC45	ORPHA:2554
HP:0001363	Craniosynostosis	8318	CDC45	OMIM:617063
HP:0001363	Craniosynostosis	990	CDC6	ORPHA:2554
HP:0001363	Craniosynostosis	4998	ORC1	ORPHA:2554
HP:0001363	Craniosynostosis	51053	GMNN	ORPHA:2554
HP:0001363	Craniosynostosis	9401	RECQL4	OMIM:218600
HP:0001363	Craniosynostosis	29968	PSAT1	ORPHA:284417
HP:0001363	Craniosynostosis	1009	CDH11	ORPHA:1299
HP:0001363	Craniosynostosis	1954	MEGF8	OMIM:614976
HP:0001363	Craniosynostosis	1954	MEGF8	ORPHA:65759
HP:0001363	Craniosynostosis	1028	CDKN1C	OMIM:614732
HP:0001363	Craniosynostosis	51715	RAB23	ORPHA:65759
HP:0001363	Craniosynostosis	2200	FBN1	OMIM:616914
HP:0001363	Craniosynostosis	2200	FBN1	ORPHA:2462
HP:0001363	Craniosynostosis	29980	DONSON	OMIM:251230
HP:0001363	Craniosynostosis	3981	LIG4	ORPHA:235
HP:0001363	Craniosynostosis	54888	NSUN2	ORPHA:235
HP:0001363	Craniosynostosis	11285	B4GALT7	OMIM:130070
HP:0001363	Craniosynostosis	5251	PHEX	ORPHA:89936
HP:0001363	Craniosynostosis	26038	CHD5	OMIM:619873
HP:0001363	Craniosynostosis	10664	CTCF	ORPHA:363611
HP:0001363	Craniosynostosis	149371	EXOC8	OMIM:619076
HP:0001363	Craniosynostosis	4041	LRP5	ORPHA:178377
HP:0001363	Craniosynostosis	51604	PIGT	ORPHA:369837
HP:0001363	Craniosynostosis	145173	B3GLCT	OMIM:261540
HP:0001363	Craniosynostosis	5530	PPP3CA	OMIM:618265
HP:0001363	Craniosynostosis	92002	CCNQ	OMIM:300707
HP:0001363	Craniosynostosis	29957	SLC25A24	OMIM:612289
HP:0001363	Craniosynostosis	9508	ADAMTS3	ORPHA:2136
HP:0001363	Craniosynostosis	147372	CCBE1	ORPHA:2136
HP:0001363	Craniosynostosis	79633	FAT4	ORPHA:2136
HP:0001363	Craniosynostosis	10283	CWC27	OMIM:250410
HP:0001363	Craniosynostosis	10283	CWC27	ORPHA:166035
HP:0001363	Craniosynostosis	81031	SLC2A10	ORPHA:3342
HP:0001363	Craniosynostosis	54499	TMCO1	OMIM:213980
HP:0001363	Craniosynostosis	25914	RTTN	ORPHA:468631
HP:0001363	Craniosynostosis	157570	ESCO2	ORPHA:3103
HP:0001363	Craniosynostosis	157570	ESCO2	OMIM:268300
HP:0001363	Craniosynostosis	2317	FLNB	ORPHA:503
HP:0001363	Craniosynostosis	5728	PTEN	ORPHA:744
HP:0001363	Craniosynostosis	207	AKT1	ORPHA:744
HP:0001363	Craniosynostosis	78989	COLEC11	OMIM:265050
HP:0001363	Craniosynostosis	78989	COLEC11	ORPHA:293843
HP:0001363	Craniosynostosis	4094	MAF	ORPHA:1272
HP:0001363	Craniosynostosis	374879	ZNF699	OMIM:619488
HP:0001363	Craniosynostosis	9702	CEP57	OMIM:614114
HP:0001363	Craniosynostosis	6608	SMO	ORPHA:1553
HP:0001363	Craniosynostosis	5500	PPP1CB	OMIM:617506
HP:0001363	Craniosynostosis	4488	MSX2	OMIM:604757
HP:0001363	Craniosynostosis	4488	MSX2	ORPHA:60015
HP:0001363	Craniosynostosis	6497	SKI	OMIM:182212
HP:0001363	Craniosynostosis	6497	SKI	ORPHA:2462
HP:0001363	Craniosynostosis	126792	B3GALT6	ORPHA:536467
HP:0001363	Craniosynostosis	4621	MYH3	OMIM:178110
HP:0001363	Craniosynostosis	1758	DMP1	ORPHA:289176
HP:0001363	Craniosynostosis	1758	DMP1	OMIM:241520
HP:0001363	Craniosynostosis	5167	ENPP1	ORPHA:289176
HP:0001363	Craniosynostosis	7048	TGFBR2	OMIM:610168
HP:0001363	Craniosynostosis	7048	TGFBR2	ORPHA:60030
HP:0001363	Craniosynostosis	545	ATR	ORPHA:808
HP:0001363	Craniosynostosis	1062	CENPE	ORPHA:808
HP:0001363	Craniosynostosis	5116	PCNT	ORPHA:808
HP:0001363	Craniosynostosis	5932	RBBP8	ORPHA:808
HP:0001363	Craniosynostosis	79902	NUP85	ORPHA:808
HP:0001363	Craniosynostosis	84126	ATRIP	ORPHA:808
HP:0001363	Craniosynostosis	55835	CENPJ	ORPHA:808
HP:0001363	Craniosynostosis	10293	TRAIP	ORPHA:808
HP:0001363	Craniosynostosis	22995	CEP152	ORPHA:808
HP:0001363	Craniosynostosis	10733	PLK4	ORPHA:808
HP:0001363	Craniosynostosis	5557	PRIM1	OMIM:620005
HP:0001363	Craniosynostosis	10584	COLEC10	ORPHA:293843
HP:0001363	Craniosynostosis	5648	MASP1	ORPHA:293843
HP:0001363	Craniosynostosis	6885	MAP3K7	ORPHA:1826
HP:0001363	Craniosynostosis	404672	GTF2H5	ORPHA:33364
HP:0001363	Craniosynostosis	833	CARS1	ORPHA:33364
HP:0001363	Craniosynostosis	2068	ERCC2	ORPHA:33364
HP:0001363	Craniosynostosis	7737	RNF113A	ORPHA:33364
HP:0001363	Craniosynostosis	136647	MPLKIP	ORPHA:33364
HP:0001363	Craniosynostosis	6897	TARS1	ORPHA:33364
HP:0001363	Craniosynostosis	2071	ERCC3	ORPHA:33364
HP:0001363	Craniosynostosis	2961	GTF2E2	ORPHA:33364
HP:0001363	Craniosynostosis	23592	LEMD3	ORPHA:1306
HP:0001363	Craniosynostosis	11011	TLK2	OMIM:618050
HP:0001363	Craniosynostosis	9469	CHST3	OMIM:245600
HP:0001363	Craniosynostosis	26229	B3GAT3	OMIM:245600
HP:0001363	Craniosynostosis	11133	KPTN	ORPHA:397612
HP:0001363	Craniosynostosis	25970	SH2B1	ORPHA:261197
HP:0001363	Craniosynostosis	9742	IFT140	OMIM:266920
HP:0001363	Craniosynostosis	7046	TGFBR1	ORPHA:60030
HP:0001363	Craniosynostosis	7046	TGFBR1	OMIM:609192
HP:0001363	Craniosynostosis	10526	IPO8	ORPHA:60030
HP:0001363	Craniosynostosis	10082	GPC6	ORPHA:93329
HP:0001363	Craniosynostosis	4281	MID1	ORPHA:2745
HP:0001363	Craniosynostosis	9990	SLC12A6	ORPHA:1496
HP:0001363	Craniosynostosis	56603	CYP26B1	OMIM:614416
HP:0001363	Craniosynostosis	3852	KRT5	ORPHA:79396
HP:0001363	Craniosynostosis	3861	KRT14	ORPHA:79396
HP:0001363	Craniosynostosis	10075	HUWE1	OMIM:309590
HP:0001363	Craniosynostosis	5034	P4HB	OMIM:112240
HP:0001363	Craniosynostosis	1513	CTSK	ORPHA:763
HP:0001363	Craniosynostosis	54928	BPNT2	OMIM:614078
HP:0001363	Craniosynostosis	5422	POLA1	ORPHA:163976
HP:0001363	Craniosynostosis	5977	DPF2	OMIM:618027
HP:0001363	Craniosynostosis	6938	TCF12	OMIM:615314
HP:0001363	Craniosynostosis	1801	DPH1	OMIM:616901
HP:0001363	Craniosynostosis	1801	DPH1	ORPHA:459061
HP:0001363	Craniosynostosis	1788	DNMT3A	OMIM:615879
HP:0001363	Craniosynostosis	3845	KRAS	OMIM:609942
HP:0001363	Craniosynostosis	526	ATP6V1B2	ORPHA:79500
HP:0001363	Craniosynostosis	57465	TBC1D24	ORPHA:79500
HP:0001363	Craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0001363	Craniosynostosis	169792	GLIS3	OMIM:610199
HP:0001363	Craniosynostosis	2077	ERF	OMIM:600775
HP:0001363	Craniosynostosis	267010	RNU12	OMIM:603116
HP:0001363	Craniosynostosis	652	BMP4	OMIM:607932
HP:0001363	Craniosynostosis	9871	SEC24D	OMIM:616294
HP:0001363	Craniosynostosis	3590	IL11RA	OMIM:614188
HP:0001363	Craniosynostosis	153241	CEP120	OMIM:616300
HP:0001363	Craniosynostosis	84720	PIGO	OMIM:614749
HP:0001363	Craniosynostosis	9839	ZEB2	ORPHA:261537
HP:0001363	Craniosynostosis	9839	ZEB2	ORPHA:261552
HP:0001363	Craniosynostosis	222663	SCUBE3	OMIM:619184
HP:0001363	Craniosynostosis	8294	H4C9	OMIM:619951
HP:0001363	Craniosynostosis	5881	RAC3	OMIM:618577
HP:0001363	Craniosynostosis	1312	COMT	ORPHA:567
HP:0001363	Craniosynostosis	221037	JMJD1C	ORPHA:567
HP:0001363	Craniosynostosis	2812	GP1BB	ORPHA:567
HP:0001363	Craniosynostosis	6239	RREB1	ORPHA:567
HP:0001363	Craniosynostosis	6899	TBX1	ORPHA:567
HP:0001363	Craniosynostosis	7290	HIRA	ORPHA:567
HP:0001363	Craniosynostosis	9632	SEC24C	ORPHA:567
HP:0001363	Craniosynostosis	7353	UFD1	ORPHA:567
HP:0001363	Craniosynostosis	421	ARVCF	ORPHA:567
HP:0005449	Bridged sella turcica	5727	PTCH1	OMIM:109400
HP:0031301	Peripheral arterial calcification	4907	NT5E	OMIM:211800
HP:0031302	Lower extremity peripheral arterial calcification	4907	NT5E	OMIM:211800
HP:0031303	Femoral arterial calcification	4907	NT5E	OMIM:211800
HP:0031304	Iliac arterial calcification	4907	NT5E	OMIM:211800
HP:0031305	Tibial arterial calcification	4907	NT5E	OMIM:211800
HP:0031306	Intracranial arterial calcification	6575	SLC20A2	OMIM:213600
HP:0031306	Intracranial arterial calcification	5155	PDGFB	OMIM:213600
HP:0031306	Intracranial arterial calcification	5159	PDGFRB	OMIM:213600
HP:0005458	Premature closure of fontanelles	1509	CTSD	OMIM:610127
HP:0005458	Premature closure of fontanelles	2067	ERCC1	OMIM:610758
HP:0005458	Premature closure of fontanelles	10736	SIX2	ORPHA:488437
HP:0005453	Absent/hypoplastic paranasal sinuses	860	RUNX2	OMIM:119600
HP:0005453	Absent/hypoplastic paranasal sinuses	6424	SFRP4	OMIM:265900
HP:0005453	Absent/hypoplastic paranasal sinuses	10736	SIX2	ORPHA:488437
HP:0005453	Absent/hypoplastic paranasal sinuses	2517	FUCA1	OMIM:230000
HP:0005453	Absent/hypoplastic paranasal sinuses	5573	PRKAR1A	ORPHA:280651
HP:0005453	Absent/hypoplastic paranasal sinuses	5144	PDE4D	ORPHA:280651
HP:0005453	Absent/hypoplastic paranasal sinuses	139285	AMER1	OMIM:300373
HP:0005453	Absent/hypoplastic paranasal sinuses	23347	SMCHD1	OMIM:603457
HP:0005451	Decreased cranial base ossification	1280	COL2A1	OMIM:151210
HP:0005450	Calvarial osteosclerosis	10312	TCIRG1	OMIM:259700
HP:0005450	Calvarial osteosclerosis	56172	ANKH	OMIM:123000
HP:0005450	Calvarial osteosclerosis	4041	LRP5	OMIM:607634
HP:0005450	Calvarial osteosclerosis	6905	TBCE	OMIM:244460
HP:0005450	Calvarial osteosclerosis	6905	TBCE	ORPHA:93324
HP:0005450	Calvarial osteosclerosis	8905	AP1S2	OMIM:304340
HP:0005450	Calvarial osteosclerosis	9365	KL	OMIM:617994
HP:0005450	Calvarial osteosclerosis	63901	FAM111A	ORPHA:93325
HP:0005450	Calvarial osteosclerosis	1855	DVL1	OMIM:616331
HP:0005461	Craniofacial disproportion	9896	FIG4	OMIM:216340
HP:0005461	Craniofacial disproportion	4000	LMNA	ORPHA:740
HP:0005461	Craniofacial disproportion	10269	ZMPSTE24	ORPHA:740
HP:0005461	Craniofacial disproportion	3736	KCNA1	ORPHA:37612
HP:0005461	Craniofacial disproportion	3481	IGF2	OMIM:180860
HP:0005461	Craniofacial disproportion	760	CA2	ORPHA:2785
HP:0031313	Abdominal aortic calcification	5167	ENPP1	OMIM:208000
HP:0031314	Carotid artery calcification	5167	ENPP1	OMIM:208000
HP:0031318	Myofiber disarray	7414	VCL	OMIM:613255
HP:0031318	Myofiber disarray	7137	TNNI3	OMIM:611880
HP:0031318	Myofiber disarray	9997	SCO2	OMIM:604377
HP:0031318	Myofiber disarray	70	ACTC1	OMIM:613424
HP:0031318	Myofiber disarray	23676	SMPX	OMIM:301075
HP:0031318	Myofiber disarray	88	ACTN2	OMIM:612158
HP:0031318	Myofiber disarray	4607	MYBPC3	OMIM:115197
HP:0031318	Myofiber disarray	4633	MYL2	OMIM:619424
HP:0031318	Myofiber disarray	442721	LMOD2	OMIM:619897
HP:0031318	Myofiber disarray	51422	PRKAG2	OMIM:600858
HP:0031319	Cardiomyocyte hypertrophy	7414	VCL	OMIM:613255
HP:0031319	Cardiomyocyte hypertrophy	7137	TNNI3	OMIM:611880
HP:0031319	Cardiomyocyte hypertrophy	57538	ALPK3	OMIM:618052
HP:0031319	Cardiomyocyte hypertrophy	70	ACTC1	OMIM:613424
HP:0031319	Cardiomyocyte hypertrophy	1832	DSP	OMIM:605676
HP:0031319	Cardiomyocyte hypertrophy	88	ACTN2	OMIM:612158
HP:0031319	Cardiomyocyte hypertrophy	54800	KLHL24	OMIM:620236
HP:0031319	Cardiomyocyte hypertrophy	2992	GYG1	ORPHA:263297
HP:0031319	Cardiomyocyte hypertrophy	2992	GYG1	OMIM:613507
HP:0031319	Cardiomyocyte hypertrophy	22845	DOLK	ORPHA:91131
HP:0005469	Flat occiput	11253	MAN1B1	ORPHA:397941
HP:0005469	Flat occiput	11253	MAN1B1	OMIM:614202
HP:0005469	Flat occiput	3590	IL11RA	OMIM:614188
HP:0005469	Flat occiput	142680	SLC34A3	OMIM:241530
HP:0005469	Flat occiput	1594	CYP27B1	ORPHA:289157
HP:0005469	Flat occiput	1594	CYP27B1	OMIM:264700
HP:0005469	Flat occiput	120227	CYP2R1	ORPHA:289157
HP:0005469	Flat occiput	120227	CYP2R1	OMIM:600081
HP:0005469	Flat occiput	51633	OTUD6B	OMIM:617452
HP:0005469	Flat occiput	51633	OTUD6B	ORPHA:505237
HP:0005469	Flat occiput	6228	RPS23	OMIM:617412
HP:0005469	Flat occiput	23314	SATB2	ORPHA:251028
HP:0005469	Flat occiput	3098	HK1	OMIM:618547
HP:0005469	Flat occiput	84942	WDR73	OMIM:251300
HP:0005469	Flat occiput	79813	EHMT1	ORPHA:96147
HP:0005469	Flat occiput	23345	SYNE1	ORPHA:319332
HP:0005469	Flat occiput	6638	SNRPN	OMIM:105830
HP:0005469	Flat occiput	6638	SNRPN	ORPHA:177907
HP:0005469	Flat occiput	7337	UBE3A	OMIM:105830
HP:0005469	Flat occiput	7337	UBE3A	ORPHA:98794
HP:0005469	Flat occiput	7337	UBE3A	ORPHA:411511
HP:0005469	Flat occiput	5727	PTCH1	OMIM:610828
HP:0005469	Flat occiput	6872	TAF1	OMIM:300966
HP:0005469	Flat occiput	285590	SH3PXD2B	OMIM:249420
HP:0005469	Flat occiput	253959	RALGAPA1	OMIM:618797
HP:0005469	Flat occiput	23067	SETD1B	OMIM:619000
HP:0005469	Flat occiput	51506	UFC1	OMIM:618076
HP:0005469	Flat occiput	55784	MCTP2	ORPHA:1596
HP:0005469	Flat occiput	55670	PEX26	OMIM:614872
HP:0005469	Flat occiput	55670	PEX26	ORPHA:912
HP:0005469	Flat occiput	2263	FGFR2	OMIM:123790
HP:0005469	Flat occiput	7291	TWIST1	OMIM:617746
HP:0005469	Flat occiput	4952	OCRL	ORPHA:534
HP:0005469	Flat occiput	5189	PEX1	OMIM:214100
HP:0005469	Flat occiput	5189	PEX1	ORPHA:912
HP:0005469	Flat occiput	158	ADSL	ORPHA:46
HP:0005469	Flat occiput	4948	OCA2	ORPHA:98794
HP:0005469	Flat occiput	10559	SLC35A1	OMIM:603585
HP:0005469	Flat occiput	259266	ASPM	OMIM:608716
HP:0005469	Flat occiput	8813	DPM1	OMIM:608799
HP:0005469	Flat occiput	8813	DPM1	ORPHA:79322
HP:0005469	Flat occiput	4125	MAN2B1	OMIM:248500
HP:0005469	Flat occiput	10381	TUBB3	ORPHA:300570
HP:0005469	Flat occiput	2146	EZH2	OMIM:277590
HP:0005469	Flat occiput	5195	PEX14	OMIM:614887
HP:0005469	Flat occiput	5195	PEX14	ORPHA:912
HP:0005469	Flat occiput	23592	LEMD3	ORPHA:1306
HP:0005469	Flat occiput	8604	SLC25A12	OMIM:612949
HP:0005469	Flat occiput	9896	FIG4	OMIM:216340
HP:0005469	Flat occiput	129285	PPP1R21	OMIM:619383
HP:0005469	Flat occiput	54968	TMEM70	OMIM:614052
HP:0005469	Flat occiput	3832	KIF11	OMIM:152950
HP:0005469	Flat occiput	7545	ZIC1	OMIM:618736
HP:0005469	Flat occiput	7421	VDR	OMIM:277440
HP:0005469	Flat occiput	3636	INPPL1	ORPHA:2746
HP:0005469	Flat occiput	124512	METTL23	OMIM:615942
HP:0005469	Flat occiput	89910	UBE3B	ORPHA:2707
HP:0005469	Flat occiput	139285	AMER1	ORPHA:2780
HP:0005469	Flat occiput	5824	PEX19	ORPHA:912
HP:0005469	Flat occiput	5828	PEX2	ORPHA:912
HP:0005469	Flat occiput	8504	PEX3	ORPHA:912
HP:0005469	Flat occiput	8799	PEX11B	ORPHA:912
HP:0005469	Flat occiput	9409	PEX16	ORPHA:912
HP:0005469	Flat occiput	5190	PEX6	ORPHA:912
HP:0005469	Flat occiput	5830	PEX5	ORPHA:912
HP:0005469	Flat occiput	5193	PEX12	ORPHA:912
HP:0005469	Flat occiput	5194	PEX13	ORPHA:912
HP:0005469	Flat occiput	5192	PEX10	ORPHA:912
HP:0005466	Hypoplasia of the frontal bone	2260	FGFR1	OMIM:615465
HP:0005466	Hypoplasia of the frontal bone	4524	MTHFR	ORPHA:563612
HP:0005466	Hypoplasia of the frontal bone	57216	VANGL2	ORPHA:563612
HP:0005466	Hypoplasia of the frontal bone	8092	ALX1	ORPHA:306542
HP:0005465	Facial hyperostosis	207	AKT1	OMIM:176920
HP:0005465	Facial hyperostosis	2697	GJA1	OMIM:218400
HP:0005465	Facial hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0005465	Facial hyperostosis	139285	AMER1	ORPHA:2780
HP:0005465	Facial hyperostosis	50964	SOST	OMIM:269500
HP:0005464	Craniofacial osteosclerosis	10312	TCIRG1	OMIM:259700
HP:0005464	Craniofacial osteosclerosis	56172	ANKH	OMIM:123000
HP:0005464	Craniofacial osteosclerosis	4041	LRP5	OMIM:607634
HP:0005464	Craniofacial osteosclerosis	6905	TBCE	OMIM:244460
HP:0005464	Craniofacial osteosclerosis	6905	TBCE	ORPHA:93324
HP:0005464	Craniofacial osteosclerosis	8905	AP1S2	OMIM:304340
HP:0005464	Craniofacial osteosclerosis	9365	KL	OMIM:617994
HP:0005464	Craniofacial osteosclerosis	63901	FAM111A	ORPHA:93325
HP:0005464	Craniofacial osteosclerosis	1855	DVL1	OMIM:616331
HP:0005464	Craniofacial osteosclerosis	139285	AMER1	OMIM:300373
HP:0005464	Craniofacial osteosclerosis	1436	CSF1R	OMIM:618476
HP:0005464	Craniofacial osteosclerosis	7040	TGFB1	ORPHA:1328
HP:0005464	Craniofacial osteosclerosis	50964	SOST	OMIM:122860
HP:0005464	Craniofacial osteosclerosis	1186	CLCN7	ORPHA:210110
HP:0005464	Craniofacial osteosclerosis	9842	PLEKHM1	ORPHA:210110
HP:0005464	Craniofacial osteosclerosis	23516	SLC39A14	OMIM:144755
HP:0005463	Elongated sella turcica	4853	NOTCH2	OMIM:102500
HP:0005462	Calcification of falx cerebri	5727	PTCH1	ORPHA:77301
HP:0005462	Calcification of falx cerebri	5727	PTCH1	OMIM:109400
HP:0005462	Calcification of falx cerebri	4921	DDR2	OMIM:271665
HP:0005462	Calcification of falx cerebri	1301	COL11A1	OMIM:154780
HP:0005462	Calcification of falx cerebri	368	ABCC6	OMIM:177850
HP:0005462	Calcification of falx cerebri	57688	ZSWIM6	OMIM:603671
HP:0031320	Cardiomyocyte mitochondrial proliferation	493753	COA5	OMIM:616500
HP:0031320	Cardiomyocyte mitochondrial proliferation	779	CACNA1S	ORPHA:423
HP:0031320	Cardiomyocyte mitochondrial proliferation	6261	RYR1	ORPHA:423
HP:0031329	Interstitial cardiac fibrosis	4000	LMNA	OMIM:181350
HP:0031329	Interstitial cardiac fibrosis	6123	RPL3L	OMIM:619371
HP:0031329	Interstitial cardiac fibrosis	70	ACTC1	OMIM:613424
HP:0031329	Interstitial cardiac fibrosis	4625	MYH7	OMIM:613426
HP:0031329	Interstitial cardiac fibrosis	84665	MYPN	ORPHA:75249
HP:0031329	Interstitial cardiac fibrosis	2318	FLNC	ORPHA:75249
HP:0031329	Interstitial cardiac fibrosis	7139	TNNT2	ORPHA:75249
HP:0031329	Interstitial cardiac fibrosis	7137	TNNI3	ORPHA:75249
HP:0031329	Interstitial cardiac fibrosis	10112	KIF20A	ORPHA:75249
HP:0031329	Interstitial cardiac fibrosis	22845	DOLK	ORPHA:91131
HP:0005478	Prominent frontal sinuses	3759	KCNJ2	OMIM:170390
HP:0005478	Prominent frontal sinuses	9526	MPDU1	ORPHA:79323
HP:0005477	Progressive sclerosis of skull base	9791	PTDSS1	OMIM:151050
HP:0005476	Widely patent sagittal suture	1301	COL11A1	OMIM:228520
HP:0005473	Fusion of middle ear ossicles	7020	TFAP2A	OMIM:113620
HP:0005473	Fusion of middle ear ossicles	51082	POLR1D	OMIM:613717
HP:0005473	Fusion of middle ear ossicles	6885	MAP3K7	OMIM:157800
HP:0005472	Orbital craniosynostosis	5034	P4HB	OMIM:112240
HP:0031331	Abnormal cardiomyocyte morphology	7414	VCL	OMIM:613255
HP:0031331	Abnormal cardiomyocyte morphology	7137	TNNI3	OMIM:611880
HP:0031331	Abnormal cardiomyocyte morphology	57538	ALPK3	OMIM:618052
HP:0031331	Abnormal cardiomyocyte morphology	70	ACTC1	OMIM:613424
HP:0031331	Abnormal cardiomyocyte morphology	1832	DSP	OMIM:605676
HP:0031331	Abnormal cardiomyocyte morphology	88	ACTN2	OMIM:612158
HP:0031331	Abnormal cardiomyocyte morphology	54800	KLHL24	OMIM:620236
HP:0031331	Abnormal cardiomyocyte morphology	2992	GYG1	ORPHA:263297
HP:0031331	Abnormal cardiomyocyte morphology	2992	GYG1	OMIM:613507
HP:0031331	Abnormal cardiomyocyte morphology	22845	DOLK	ORPHA:91131
HP:0031331	Abnormal cardiomyocyte morphology	493753	COA5	OMIM:616500
HP:0031331	Abnormal cardiomyocyte morphology	779	CACNA1S	ORPHA:423
HP:0031331	Abnormal cardiomyocyte morphology	6261	RYR1	ORPHA:423
HP:0031331	Abnormal cardiomyocyte morphology	57104	PNPLA2	ORPHA:565612
HP:0031331	Abnormal cardiomyocyte morphology	7139	TNNT2	OMIM:612422
HP:0031331	Abnormal cardiomyocyte morphology	442721	LMOD2	OMIM:619897
HP:0031331	Abnormal cardiomyocyte morphology	6123	RPL3L	OMIM:619371
HP:0031333	Myocardial sarcomeric disarray	7139	TNNT2	OMIM:612422
HP:0031333	Myocardial sarcomeric disarray	442721	LMOD2	OMIM:619897
HP:0000252	Microcephaly	1718	DHCR24	OMIM:602398
HP:0000252	Microcephaly	1718	DHCR24	ORPHA:35107
HP:0000252	Microcephaly	4524	MTHFR	ORPHA:395
HP:0000252	Microcephaly	4524	MTHFR	OMIM:236250
HP:0000252	Microcephaly	23394	ADNP	ORPHA:404448
HP:0000252	Microcephaly	51399	TRAPPC4	OMIM:618741
HP:0000252	Microcephaly	1139	CHRNA7	ORPHA:199318
HP:0000252	Microcephaly	51569	UFM1	OMIM:617899
HP:0000252	Microcephaly	10059	DNM1L	OMIM:614388
HP:0000252	Microcephaly	6228	RPS23	OMIM:617412
HP:0000252	Microcephaly	7360	UGP2	OMIM:618744
HP:0000252	Microcephaly	5932	RBBP8	OMIM:606744
HP:0000252	Microcephaly	5932	RBBP8	ORPHA:808
HP:0000252	Microcephaly	2073	ERCC5	OMIM:616570
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:1466
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:220295
HP:0000252	Microcephaly	2073	ERCC5	OMIM:278780
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:910
HP:0000252	Microcephaly	283489	CHAMP1	OMIM:616579
HP:0000252	Microcephaly	478	ATP1A3	OMIM:619606
HP:0000252	Microcephaly	478	ATP1A3	ORPHA:442835
HP:0000252	Microcephaly	166378	AFG2A	OMIM:616577
HP:0000252	Microcephaly	477	ATP1A2	OMIM:619602
HP:0000252	Microcephaly	477	ATP1A2	ORPHA:442835
HP:0000252	Microcephaly	6595	SMARCA2	ORPHA:2728
HP:0000252	Microcephaly	6595	SMARCA2	OMIM:601358
HP:0000252	Microcephaly	6595	SMARCA2	ORPHA:3051
HP:0000252	Microcephaly	84520	GON7	OMIM:619603
HP:0000252	Microcephaly	79693	YRDC	OMIM:619609
HP:0000252	Microcephaly	5832	ALDH18A1	OMIM:616586
HP:0000252	Microcephaly	5832	ALDH18A1	ORPHA:90348
HP:0000252	Microcephaly	5832	ALDH18A1	ORPHA:447760
HP:0000252	Microcephaly	5832	ALDH18A1	OMIM:616603
HP:0000252	Microcephaly	6884	TAF13	OMIM:617432
HP:0000252	Microcephaly	6884	TAF13	ORPHA:2512
HP:0000252	Microcephaly	79029	AFG2B	OMIM:619616
HP:0000252	Microcephaly	10111	RAD50	OMIM:613078
HP:0000252	Microcephaly	55681	SCYL2	OMIM:618766
HP:0000252	Microcephaly	85465	SELENOI	OMIM:618768
HP:0000252	Microcephaly	85465	SELENOI	ORPHA:506353
HP:0000252	Microcephaly	5191	PEX7	OMIM:215100
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:1865
HP:0000252	Microcephaly	3339	HSPG2	OMIM:224410
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:800
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:1606
HP:0000252	Microcephaly	171023	ASXL1	ORPHA:97297
HP:0000252	Microcephaly	171023	ASXL1	OMIM:605039
HP:0000252	Microcephaly	5813	PURA	ORPHA:438216
HP:0000252	Microcephaly	89910	UBE3B	ORPHA:2707
HP:0000252	Microcephaly	89910	UBE3B	OMIM:244450
HP:0000252	Microcephaly	5373	PMM2	OMIM:212065
HP:0000252	Microcephaly	1499	CTNNB1	ORPHA:404473
HP:0000252	Microcephaly	1499	CTNNB1	ORPHA:891
HP:0000252	Microcephaly	55131	RBM28	ORPHA:157954
HP:0000252	Microcephaly	55131	RBM28	OMIM:612079
HP:0000252	Microcephaly	2072	ERCC4	OMIM:615272
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:84
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:220295
HP:0000252	Microcephaly	2072	ERCC4	OMIM:610965
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:910
HP:0000252	Microcephaly	2072	ERCC4	OMIM:278760
HP:0000252	Microcephaly	55768	NGLY1	OMIM:615273
HP:0000252	Microcephaly	55621	TRMT1	OMIM:618302
HP:0000252	Microcephaly	6905	TBCE	OMIM:241410
HP:0000252	Microcephaly	6905	TBCE	ORPHA:2323
HP:0000252	Microcephaly	6905	TBCE	ORPHA:93324
HP:0000252	Microcephaly	51633	OTUD6B	OMIM:617452
HP:0000252	Microcephaly	51633	OTUD6B	ORPHA:505237
HP:0000252	Microcephaly	9289	ADGRG1	ORPHA:101070
HP:0000252	Microcephaly	9289	ADGRG1	ORPHA:98889
HP:0000252	Microcephaly	5728	PTEN	ORPHA:101070
HP:0000252	Microcephaly	5727	PTCH1	OMIM:610828
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:280195
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:220386
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:280200
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93926
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93924
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93925
HP:0000252	Microcephaly	2736	GLI2	OMIM:610829
HP:0000252	Microcephaly	2736	GLI2	ORPHA:280195
HP:0000252	Microcephaly	2736	GLI2	ORPHA:220386
HP:0000252	Microcephaly	2736	GLI2	ORPHA:280200
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93926
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93924
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93925
HP:0000252	Microcephaly	79718	TBL1XR1	OMIM:602342
HP:0000252	Microcephaly	54828	BCAS3	OMIM:619641
HP:0000252	Microcephaly	6305	SBF1	OMIM:615284
HP:0000252	Microcephaly	3800	KIF5C	OMIM:615282
HP:0000252	Microcephaly	2232	FDXR	ORPHA:543470
HP:0000252	Microcephaly	7358	UGDH	OMIM:618792
HP:0000252	Microcephaly	113179	ADAT3	OMIM:615286
HP:0000252	Microcephaly	113179	ADAT3	ORPHA:363528
HP:0000252	Microcephaly	2904	GRIN2B	OMIM:616139
HP:0000252	Microcephaly	2904	GRIN2B	OMIM:613970
HP:0000252	Microcephaly	200424	TET3	OMIM:618798
HP:0000252	Microcephaly	79971	WLS	OMIM:619648
HP:0000252	Microcephaly	79728	PALB2	OMIM:610832
HP:0000252	Microcephaly	79728	PALB2	ORPHA:84
HP:0000252	Microcephaly	56975	FAM20C	ORPHA:1832
HP:0000252	Microcephaly	56975	FAM20C	OMIM:259775
HP:0000252	Microcephaly	5917	RARS1	OMIM:616140
HP:0000252	Microcephaly	5917	RARS1	ORPHA:438114
HP:0000252	Microcephaly	54916	TMEM260	OMIM:617478
HP:0000252	Microcephaly	25836	NIPBL	OMIM:122470
HP:0000252	Microcephaly	25836	NIPBL	ORPHA:199
HP:0000252	Microcephaly	23499	MACF1	OMIM:618325
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:1824
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:353298
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:226960
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:210710
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:616651
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:2636
HP:0000252	Microcephaly	58497	PRUNE1	OMIM:617481
HP:0000252	Microcephaly	58497	PRUNE1	ORPHA:544469
HP:0000252	Microcephaly	120	ADD3	OMIM:617008
HP:0000252	Microcephaly	5426	POLE	OMIM:618336
HP:0000252	Microcephaly	3480	IGF1R	ORPHA:73273
HP:0000252	Microcephaly	3480	IGF1R	OMIM:270450
HP:0000252	Microcephaly	3479	IGF1	ORPHA:73272
HP:0000252	Microcephaly	3479	IGF1	OMIM:608747
HP:0000252	Microcephaly	3155	HMGCL	ORPHA:20
HP:0000252	Microcephaly	3155	HMGCL	OMIM:246450
HP:0000252	Microcephaly	2775	GNAO1	OMIM:617493
HP:0000252	Microcephaly	2775	GNAO1	ORPHA:1934
HP:0000252	Microcephaly	10785	WDR4	OMIM:618346
HP:0000252	Microcephaly	10785	WDR4	OMIM:618347
HP:0000252	Microcephaly	10785	WDR4	ORPHA:2065
HP:0000252	Microcephaly	4598	MVK	ORPHA:29
HP:0000252	Microcephaly	4598	MVK	OMIM:610377
HP:0000252	Microcephaly	54517	PUS7	OMIM:618342
HP:0000252	Microcephaly	1798	DPAGT1	OMIM:608093
HP:0000252	Microcephaly	1798	DPAGT1	ORPHA:86309
HP:0000252	Microcephaly	57122	NUP107	OMIM:618348
HP:0000252	Microcephaly	57122	NUP107	ORPHA:243
HP:0000252	Microcephaly	57122	NUP107	ORPHA:2065
HP:0000252	Microcephaly	55746	NUP133	OMIM:618349
HP:0000252	Microcephaly	55746	NUP133	ORPHA:2065
HP:0000252	Microcephaly	56623	INPP5E	OMIM:213300
HP:0000252	Microcephaly	56945	MRPS22	OMIM:611719
HP:0000252	Microcephaly	56945	MRPS22	ORPHA:243
HP:0000252	Microcephaly	27125	AFF4	ORPHA:444077
HP:0000252	Microcephaly	27125	AFF4	OMIM:616368
HP:0000252	Microcephaly	5575	PRKAR1B	OMIM:619680
HP:0000252	Microcephaly	10733	PLK4	OMIM:616171
HP:0000252	Microcephaly	10733	PLK4	ORPHA:808
HP:0000252	Microcephaly	10733	PLK4	ORPHA:2518
HP:0000252	Microcephaly	2972	BRF1	ORPHA:444072
HP:0000252	Microcephaly	2972	BRF1	OMIM:616202
HP:0000252	Microcephaly	5515	PPP2CA	OMIM:618354
HP:0000252	Microcephaly	23114	NFASC	OMIM:618356
HP:0000252	Microcephaly	154881	KCTD7	OMIM:611726
HP:0000252	Microcephaly	154881	KCTD7	ORPHA:263516
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:370968
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:370959
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:363623
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615350
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615351
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615352
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370968
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370980
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370959
HP:0000252	Microcephaly	79147	FKRP	OMIM:606612
HP:0000252	Microcephaly	79147	FKRP	OMIM:236670
HP:0000252	Microcephaly	79147	FKRP	ORPHA:899
HP:0000252	Microcephaly	29954	POMT2	ORPHA:370968
HP:0000252	Microcephaly	29954	POMT2	ORPHA:370959
HP:0000252	Microcephaly	29954	POMT2	OMIM:236670
HP:0000252	Microcephaly	29954	POMT2	ORPHA:899
HP:0000252	Microcephaly	29954	POMT2	OMIM:613150
HP:0000252	Microcephaly	29954	POMT2	OMIM:613156
HP:0000252	Microcephaly	9215	LARGE1	ORPHA:370968
HP:0000252	Microcephaly	9215	LARGE1	OMIM:236670
HP:0000252	Microcephaly	9215	LARGE1	ORPHA:899
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370968
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370980
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370959
HP:0000252	Microcephaly	10585	POMT1	OMIM:609308
HP:0000252	Microcephaly	10585	POMT1	OMIM:236670
HP:0000252	Microcephaly	10585	POMT1	ORPHA:899
HP:0000252	Microcephaly	10585	POMT1	ORPHA:86812
HP:0000252	Microcephaly	10585	POMT1	OMIM:613155
HP:0000252	Microcephaly	55777	MBD5	OMIM:156200
HP:0000252	Microcephaly	55777	MBD5	ORPHA:228402
HP:0000252	Microcephaly	347733	TUBB2B	ORPHA:467166
HP:0000252	Microcephaly	347733	TUBB2B	ORPHA:300573
HP:0000252	Microcephaly	347733	TUBB2B	OMIM:610031
HP:0000252	Microcephaly	7846	TUBA1A	ORPHA:467166
HP:0000252	Microcephaly	7846	TUBA1A	OMIM:611603
HP:0000252	Microcephaly	7846	TUBA1A	ORPHA:171680
HP:0000252	Microcephaly	10381	TUBB3	ORPHA:467166
HP:0000252	Microcephaly	10381	TUBB3	OMIM:614039
HP:0000252	Microcephaly	84340	GFM2	ORPHA:565624
HP:0000252	Microcephaly	84340	GFM2	OMIM:618397
HP:0000252	Microcephaly	10588	MTHFS	OMIM:618367
HP:0000252	Microcephaly	22930	RAB3GAP1	OMIM:600118
HP:0000252	Microcephaly	22930	RAB3GAP1	OMIM:619420
HP:0000252	Microcephaly	22930	RAB3GAP1	ORPHA:2510
HP:0000252	Microcephaly	22930	RAB3GAP1	ORPHA:1387
HP:0000252	Microcephaly	2334	AFF2	OMIM:309548
HP:0000252	Microcephaly	92255	LMBRD2	OMIM:619694
HP:0000252	Microcephaly	7468	NSD2	OMIM:619695
HP:0000252	Microcephaly	7468	NSD2	OMIM:194190
HP:0000252	Microcephaly	7468	NSD2	ORPHA:280
HP:0000252	Microcephaly	267010	RNU12	OMIM:620208
HP:0000252	Microcephaly	3054	HCFC1	OMIM:309541
HP:0000252	Microcephaly	201163	FLCN	OMIM:610883
HP:0000252	Microcephaly	2019	EN1	OMIM:619218
HP:0000252	Microcephaly	3431	SP110	OMIM:235550
HP:0000252	Microcephaly	3431	SP110	ORPHA:79124
HP:0000252	Microcephaly	51608	GET4	OMIM:620200
HP:0000252	Microcephaly	7703	PCGF2	OMIM:618371
HP:0000252	Microcephaly	23111	SPART	ORPHA:101000
HP:0000252	Microcephaly	6390	SDHB	OMIM:619224
HP:0000252	Microcephaly	11342	RNF13	OMIM:618379
HP:0000252	Microcephaly	11342	RNF13	ORPHA:544503
HP:0000252	Microcephaly	8802	SUCLG1	ORPHA:17
HP:0000252	Microcephaly	4613	MYCN	OMIM:164280
HP:0000252	Microcephaly	4613	MYCN	ORPHA:391641
HP:0000252	Microcephaly	51729	WBP11	OMIM:619227
HP:0000252	Microcephaly	6304	SATB1	OMIM:619228
HP:0000252	Microcephaly	6304	SATB1	OMIM:619229
HP:0000252	Microcephaly	2218	FKTN	ORPHA:370980
HP:0000252	Microcephaly	2218	FKTN	OMIM:236670
HP:0000252	Microcephaly	2218	FKTN	ORPHA:899
HP:0000252	Microcephaly	729920	CRPPA	ORPHA:370980
HP:0000252	Microcephaly	729920	CRPPA	ORPHA:899
HP:0000252	Microcephaly	2697	GJA1	ORPHA:317
HP:0000252	Microcephaly	2697	GJA1	OMIM:164200
HP:0000252	Microcephaly	2707	GJB3	ORPHA:317
HP:0000252	Microcephaly	2531	KDSR	ORPHA:317
HP:0000252	Microcephaly	127534	GJB4	ORPHA:317
HP:0000252	Microcephaly	3028	HSD17B10	ORPHA:391428
HP:0000252	Microcephaly	8943	AP3D1	OMIM:617050
HP:0000252	Microcephaly	9757	KMT2B	ORPHA:589618
HP:0000252	Microcephaly	9757	KMT2B	OMIM:619934
HP:0000252	Microcephaly	9757	KMT2B	OMIM:617284
HP:0000252	Microcephaly	84265	POLR3GL	OMIM:619234
HP:0000252	Microcephaly	134218	DNAJC21	OMIM:617052
HP:0000252	Microcephaly	27107	ZBTB11	OMIM:618383
HP:0000252	Microcephaly	8452	CUL3	OMIM:619239
HP:0000252	Microcephaly	6608	SMO	OMIM:241800
HP:0000252	Microcephaly	55624	POMGNT1	ORPHA:370959
HP:0000252	Microcephaly	55624	POMGNT1	OMIM:253280
HP:0000252	Microcephaly	55624	POMGNT1	ORPHA:899
HP:0000252	Microcephaly	55624	POMGNT1	OMIM:613151
HP:0000252	Microcephaly	51360	MBTPS2	OMIM:308205
HP:0000252	Microcephaly	51360	MBTPS2	ORPHA:85284
HP:0000252	Microcephaly	51360	MBTPS2	ORPHA:2273
HP:0000252	Microcephaly	1457	CSNK2A1	OMIM:617062
HP:0000252	Microcephaly	7204	TRIO	OMIM:617061
HP:0000252	Microcephaly	203068	TUBB	OMIM:156610
HP:0000252	Microcephaly	203068	TUBB	ORPHA:2505
HP:0000252	Microcephaly	55640	FLVCR2	OMIM:225790
HP:0000252	Microcephaly	23112	TNRC6B	OMIM:619243
HP:0000252	Microcephaly	91875	TTC5	OMIM:619244
HP:0000252	Microcephaly	28514	DLL1	ORPHA:280195
HP:0000252	Microcephaly	28514	DLL1	OMIM:618709
HP:0000252	Microcephaly	28514	DLL1	ORPHA:220386
HP:0000252	Microcephaly	28514	DLL1	ORPHA:280200
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93926
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93924
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93925
HP:0000252	Microcephaly	2253	FGF8	ORPHA:280195
HP:0000252	Microcephaly	2253	FGF8	ORPHA:220386
HP:0000252	Microcephaly	2253	FGF8	ORPHA:280200
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93926
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93924
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93925
HP:0000252	Microcephaly	6496	SIX3	ORPHA:280195
HP:0000252	Microcephaly	6496	SIX3	ORPHA:220386
HP:0000252	Microcephaly	6496	SIX3	OMIM:157170
HP:0000252	Microcephaly	6496	SIX3	ORPHA:280200
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93926
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93924
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93925
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:280195
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:220386
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:280200
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93926
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93924
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93925
HP:0000252	Microcephaly	4838	NODAL	ORPHA:280195
HP:0000252	Microcephaly	4838	NODAL	ORPHA:220386
HP:0000252	Microcephaly	4838	NODAL	ORPHA:280200
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93926
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93924
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93925
HP:0000252	Microcephaly	6469	SHH	ORPHA:280195
HP:0000252	Microcephaly	6469	SHH	OMIM:142945
HP:0000252	Microcephaly	6469	SHH	ORPHA:220386
HP:0000252	Microcephaly	6469	SHH	ORPHA:280200
HP:0000252	Microcephaly	6469	SHH	OMIM:147250
HP:0000252	Microcephaly	6469	SHH	ORPHA:93926
HP:0000252	Microcephaly	6469	SHH	ORPHA:93924
HP:0000252	Microcephaly	6469	SHH	ORPHA:93925
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:280195
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:220386
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:280200
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93926
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93924
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93925
HP:0000252	Microcephaly	7546	ZIC2	OMIM:609637
HP:0000252	Microcephaly	6491	STIL	ORPHA:280195
HP:0000252	Microcephaly	6491	STIL	ORPHA:220386
HP:0000252	Microcephaly	6491	STIL	ORPHA:93926
HP:0000252	Microcephaly	6491	STIL	ORPHA:93924
HP:0000252	Microcephaly	6491	STIL	ORPHA:93925
HP:0000252	Microcephaly	6491	STIL	ORPHA:2512
HP:0000252	Microcephaly	2619	GAS1	ORPHA:280195
HP:0000252	Microcephaly	2619	GAS1	ORPHA:220386
HP:0000252	Microcephaly	2619	GAS1	ORPHA:280200
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93926
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93924
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93925
HP:0000252	Microcephaly	84976	DISP1	ORPHA:280195
HP:0000252	Microcephaly	84976	DISP1	ORPHA:220386
HP:0000252	Microcephaly	84976	DISP1	ORPHA:280200
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93926
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93924
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93925
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:280195
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:220386
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:280200
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93926
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93924
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93925
HP:0000252	Microcephaly	50937	CDON	ORPHA:280195
HP:0000252	Microcephaly	50937	CDON	ORPHA:220386
HP:0000252	Microcephaly	50937	CDON	ORPHA:280200
HP:0000252	Microcephaly	50937	CDON	OMIM:614226
HP:0000252	Microcephaly	50937	CDON	ORPHA:93926
HP:0000252	Microcephaly	50937	CDON	ORPHA:93924
HP:0000252	Microcephaly	50937	CDON	ORPHA:93925
HP:0000252	Microcephaly	8450	CUL4B	ORPHA:85293
HP:0000252	Microcephaly	55717	WDR11	OMIM:620237
HP:0000252	Microcephaly	93587	TRMT10A	ORPHA:391408
HP:0000252	Microcephaly	93587	TRMT10A	OMIM:616033
HP:0000252	Microcephaly	84919	PPP1R15B	ORPHA:391408
HP:0000252	Microcephaly	84919	PPP1R15B	OMIM:616817
HP:0000252	Microcephaly	201595	STT3B	ORPHA:370924
HP:0000252	Microcephaly	201595	STT3B	OMIM:615597
HP:0000252	Microcephaly	10436	EMG1	OMIM:211180
HP:0000252	Microcephaly	10436	EMG1	ORPHA:1270
HP:0000252	Microcephaly	6748	SSR4	ORPHA:370927
HP:0000252	Microcephaly	6748	SSR4	OMIM:300934
HP:0000252	Microcephaly	10084	PQBP1	OMIM:309500
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93950
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93946
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93947
HP:0000252	Microcephaly	10479	SLC9A6	ORPHA:85278
HP:0000252	Microcephaly	10479	SLC9A6	OMIM:300243
HP:0000252	Microcephaly	8242	KDM5C	ORPHA:85279
HP:0000252	Microcephaly	8242	KDM5C	OMIM:300534
HP:0000252	Microcephaly	1315	COPB1	OMIM:619255
HP:0000252	Microcephaly	89970	RSPRY1	ORPHA:457395
HP:0000252	Microcephaly	89970	RSPRY1	OMIM:616723
HP:0000252	Microcephaly	8831	SYNGAP1	OMIM:612621
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:442835
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:1942
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:544254
HP:0000252	Microcephaly	54187	NANS	OMIM:610442
HP:0000252	Microcephaly	84464	SLX4	OMIM:613951
HP:0000252	Microcephaly	84464	SLX4	ORPHA:84
HP:0000252	Microcephaly	284058	KANSL1	OMIM:610443
HP:0000252	Microcephaly	284058	KANSL1	ORPHA:363958
HP:0000252	Microcephaly	284058	KANSL1	ORPHA:363965
HP:0000252	Microcephaly	1968	EIF2S3	ORPHA:85282
HP:0000252	Microcephaly	1968	EIF2S3	OMIM:300148
HP:0000252	Microcephaly	81615	TMEM163	OMIM:620243
HP:0000252	Microcephaly	64131	XYLT1	ORPHA:370930
HP:0000252	Microcephaly	64131	XYLT1	OMIM:615777
HP:0000252	Microcephaly	116150	NUS1	OMIM:617082
HP:0000252	Microcephaly	116150	NUS1	ORPHA:442835
HP:0000252	Microcephaly	55181	SMG8	OMIM:619268
HP:0000252	Microcephaly	25886	POC1A	OMIM:614813
HP:0000252	Microcephaly	3516	RBPJ	OMIM:614814
HP:0000252	Microcephaly	5138	PDE2A	OMIM:619150
HP:0000252	Microcephaly	128	ADH5	OMIM:619151
HP:0000252	Microcephaly	64374	SIL1	OMIM:248800
HP:0000252	Microcephaly	64374	SIL1	ORPHA:559
HP:0000252	Microcephaly	6535	SLC6A8	OMIM:300352
HP:0000252	Microcephaly	6535	SLC6A8	ORPHA:52503
HP:0000252	Microcephaly	26960	NBEA	OMIM:619157
HP:0000252	Microcephaly	6309	SC5D	ORPHA:46059
HP:0000252	Microcephaly	6309	SC5D	OMIM:607330
HP:0000252	Microcephaly	26128	KIFBP	OMIM:609460
HP:0000252	Microcephaly	26128	KIFBP	ORPHA:66629
HP:0000252	Microcephaly	5885	RAD21	OMIM:614701
HP:0000252	Microcephaly	5885	RAD21	ORPHA:199
HP:0000252	Microcephaly	781	CACNA2D1	OMIM:620149
HP:0000252	Microcephaly	781	CACNA2D1	ORPHA:442835
HP:0000252	Microcephaly	7518	XRCC4	ORPHA:99812
HP:0000252	Microcephaly	7518	XRCC4	OMIM:616541
HP:0000252	Microcephaly	3981	LIG4	ORPHA:99812
HP:0000252	Microcephaly	3981	LIG4	ORPHA:235
HP:0000252	Microcephaly	3981	LIG4	OMIM:606593
HP:0000252	Microcephaly	80144	FRAS1	OMIM:219000
HP:0000252	Microcephaly	80144	FRAS1	ORPHA:2052
HP:0000252	Microcephaly	10093	ARPC4	OMIM:620141
HP:0000252	Microcephaly	4784	NFIX	ORPHA:447980
HP:0000252	Microcephaly	613	BCR	ORPHA:261330
HP:0000252	Microcephaly	1399	CRKL	ORPHA:261330
HP:0000252	Microcephaly	5594	MAPK1	ORPHA:261330
HP:0000252	Microcephaly	5594	MAPK1	OMIM:619087
HP:0000252	Microcephaly	9640	ZNF592	ORPHA:83472
HP:0000252	Microcephaly	84942	WDR73	ORPHA:83472
HP:0000252	Microcephaly	84942	WDR73	ORPHA:2065
HP:0000252	Microcephaly	84942	WDR73	OMIM:251300
HP:0000252	Microcephaly	224	ALDH3A2	ORPHA:816
HP:0000252	Microcephaly	2314	FLII	ORPHA:819
HP:0000252	Microcephaly	10743	RAI1	ORPHA:819
HP:0000252	Microcephaly	10743	RAI1	ORPHA:1713
HP:0000252	Microcephaly	10522	DEAF1	ORPHA:819
HP:0000252	Microcephaly	10522	DEAF1	ORPHA:468620
HP:0000252	Microcephaly	1717	DHCR7	ORPHA:818
HP:0000252	Microcephaly	1717	DHCR7	OMIM:270400
HP:0000252	Microcephaly	29072	SETD2	OMIM:620157
HP:0000252	Microcephaly	29072	SETD2	OMIM:620155
HP:0000252	Microcephaly	150468	CKAP2L	ORPHA:3255
HP:0000252	Microcephaly	150468	CKAP2L	OMIM:272440
HP:0000252	Microcephaly	3242	HPD	OMIM:140350
HP:0000252	Microcephaly	338657	CENATAC	OMIM:620153
HP:0000252	Microcephaly	25778	DSTYK	OMIM:270750
HP:0000252	Microcephaly	25839	COG4	ORPHA:263501
HP:0000252	Microcephaly	25839	COG4	OMIM:613489
HP:0000252	Microcephaly	25839	COG4	ORPHA:85172
HP:0000252	Microcephaly	56992	KIF15	ORPHA:261323
HP:0000252	Microcephaly	56992	KIF15	OMIM:619981
HP:0000252	Microcephaly	4718	NDUFC2	OMIM:619170
HP:0000252	Microcephaly	1738	DLD	ORPHA:2394
HP:0000252	Microcephaly	1738	DLD	OMIM:246900
HP:0000252	Microcephaly	4001	LMNB1	OMIM:619179
HP:0000252	Microcephaly	4001	LMNB1	ORPHA:2514
HP:0000252	Microcephaly	92579	G6PC3	OMIM:612541
HP:0000252	Microcephaly	93627	TBCK	OMIM:616900
HP:0000252	Microcephaly	93627	TBCK	ORPHA:488632
HP:0000252	Microcephaly	672	BRCA1	ORPHA:84
HP:0000252	Microcephaly	672	BRCA1	OMIM:617883
HP:0000252	Microcephaly	10459	MAD2L2	ORPHA:84
HP:0000252	Microcephaly	10459	MAD2L2	OMIM:617243
HP:0000252	Microcephaly	7516	XRCC2	ORPHA:84
HP:0000252	Microcephaly	7516	XRCC2	OMIM:617247
HP:0000252	Microcephaly	29089	UBE2T	ORPHA:84
HP:0000252	Microcephaly	675	BRCA2	ORPHA:84
HP:0000252	Microcephaly	675	BRCA2	OMIM:605724
HP:0000252	Microcephaly	55120	FANCL	ORPHA:84
HP:0000252	Microcephaly	2177	FANCD2	ORPHA:84
HP:0000252	Microcephaly	2177	FANCD2	OMIM:227646
HP:0000252	Microcephaly	2175	FANCA	ORPHA:84
HP:0000252	Microcephaly	2175	FANCA	OMIM:227650
HP:0000252	Microcephaly	2187	FANCB	ORPHA:84
HP:0000252	Microcephaly	2176	FANCC	ORPHA:84
HP:0000252	Microcephaly	2176	FANCC	OMIM:227645
HP:0000252	Microcephaly	2178	FANCE	ORPHA:84
HP:0000252	Microcephaly	2178	FANCE	OMIM:600901
HP:0000252	Microcephaly	2188	FANCF	ORPHA:84
HP:0000252	Microcephaly	2188	FANCF	OMIM:603467
HP:0000252	Microcephaly	2189	FANCG	ORPHA:84
HP:0000252	Microcephaly	2189	FANCG	OMIM:614082
HP:0000252	Microcephaly	5888	RAD51	ORPHA:84
HP:0000252	Microcephaly	5888	RAD51	OMIM:617244
HP:0000252	Microcephaly	5889	RAD51C	ORPHA:84
HP:0000252	Microcephaly	55159	RFWD3	ORPHA:84
HP:0000252	Microcephaly	55159	RFWD3	OMIM:617784
HP:0000252	Microcephaly	83990	BRIP1	ORPHA:84
HP:0000252	Microcephaly	57697	FANCM	ORPHA:84
HP:0000252	Microcephaly	55215	FANCI	ORPHA:84
HP:0000252	Microcephaly	55215	FANCI	OMIM:609053
HP:0000252	Microcephaly	546	ATRX	ORPHA:847
HP:0000252	Microcephaly	546	ATRX	OMIM:309580
HP:0000252	Microcephaly	546	ATRX	OMIM:301040
HP:0000252	Microcephaly	222663	SCUBE3	OMIM:619184
HP:0000252	Microcephaly	10367	MICU1	ORPHA:401768
HP:0000252	Microcephaly	10367	MICU1	OMIM:615673
HP:0000252	Microcephaly	9184	BUB3	ORPHA:1052
HP:0000252	Microcephaly	699	BUB1	ORPHA:1052
HP:0000252	Microcephaly	9702	CEP57	ORPHA:1052
HP:0000252	Microcephaly	9702	CEP57	OMIM:614114
HP:0000252	Microcephaly	9319	TRIP13	ORPHA:1052
HP:0000252	Microcephaly	9319	TRIP13	OMIM:617598
HP:0000252	Microcephaly	701	BUB1B	ORPHA:1052
HP:0000252	Microcephaly	701	BUB1B	OMIM:257300
HP:0000252	Microcephaly	23036	ZNF292	OMIM:619188
HP:0000252	Microcephaly	79867	TCTN2	OMIM:613885
HP:0000252	Microcephaly	79867	TCTN2	ORPHA:564
HP:0000252	Microcephaly	63894	VIPAS39	OMIM:613404
HP:0000252	Microcephaly	83879	CDCA7	OMIM:616910
HP:0000252	Microcephaly	25942	SIN3A	OMIM:613406
HP:0000252	Microcephaly	25942	SIN3A	ORPHA:94065
HP:0000252	Microcephaly	53834	FGFRL1	OMIM:194190
HP:0000252	Microcephaly	1487	CTBP1	OMIM:194190
HP:0000252	Microcephaly	1487	CTBP1	ORPHA:280
HP:0000252	Microcephaly	3954	LETM1	OMIM:194190
HP:0000252	Microcephaly	3954	LETM1	ORPHA:280
HP:0000252	Microcephaly	10815	CPLX1	OMIM:194190
HP:0000252	Microcephaly	10815	CPLX1	ORPHA:280
HP:0000252	Microcephaly	84947	SERAC1	OMIM:614739
HP:0000252	Microcephaly	54084	TSPEAR	OMIM:620173
HP:0000252	Microcephaly	5447	POR	OMIM:201750
HP:0000252	Microcephaly	56006	SMG9	OMIM:616920
HP:0000252	Microcephaly	91754	NEK9	ORPHA:64754
HP:0000252	Microcephaly	84720	PIGO	OMIM:614749
HP:0000252	Microcephaly	23345	SYNE1	ORPHA:319332
HP:0000252	Microcephaly	3675	ITGA3	OMIM:614748
HP:0000252	Microcephaly	5649	RELN	OMIM:257320
HP:0000252	Microcephaly	23137	SMC5	OMIM:620185
HP:0000252	Microcephaly	55343	SLC35C1	OMIM:266265
HP:0000252	Microcephaly	55343	SLC35C1	ORPHA:99843
HP:0000252	Microcephaly	79759	ZNF668	OMIM:620194
HP:0000252	Microcephaly	1737	DLAT	OMIM:245348
HP:0000252	Microcephaly	1737	DLAT	ORPHA:79244
HP:0000252	Microcephaly	8050	PDHX	OMIM:245349
HP:0000252	Microcephaly	8050	PDHX	ORPHA:255182
HP:0000252	Microcephaly	23522	KAT6B	ORPHA:85201
HP:0000252	Microcephaly	23522	KAT6B	OMIM:606170
HP:0000252	Microcephaly	23522	KAT6B	OMIM:603736
HP:0000252	Microcephaly	23522	KAT6B	ORPHA:3047
HP:0000252	Microcephaly	6605	SMARCE1	OMIM:616938
HP:0000252	Microcephaly	6605	SMARCE1	ORPHA:1465
HP:0000252	Microcephaly	388015	RTL1	ORPHA:96334
HP:0000252	Microcephaly	8788	DLK1	ORPHA:96334
HP:0000252	Microcephaly	55384	MEG3	ORPHA:96334
HP:0000252	Microcephaly	158	ADSL	ORPHA:46
HP:0000252	Microcephaly	158	ADSL	OMIM:103050
HP:0000252	Microcephaly	415	ARSL	OMIM:302950
HP:0000252	Microcephaly	81887	LAS1L	OMIM:309585
HP:0000252	Microcephaly	545	ATR	ORPHA:808
HP:0000252	Microcephaly	545	ATR	OMIM:210600
HP:0000252	Microcephaly	1062	CENPE	ORPHA:808
HP:0000252	Microcephaly	1062	CENPE	OMIM:616051
HP:0000252	Microcephaly	5116	PCNT	ORPHA:808
HP:0000252	Microcephaly	5116	PCNT	OMIM:210720
HP:0000252	Microcephaly	5116	PCNT	ORPHA:2637
HP:0000252	Microcephaly	79902	NUP85	ORPHA:808
HP:0000252	Microcephaly	84126	ATRIP	ORPHA:808
HP:0000252	Microcephaly	55835	CENPJ	ORPHA:808
HP:0000252	Microcephaly	55835	CENPJ	OMIM:608393
HP:0000252	Microcephaly	55835	CENPJ	OMIM:613676
HP:0000252	Microcephaly	55835	CENPJ	ORPHA:2512
HP:0000252	Microcephaly	10293	TRAIP	ORPHA:808
HP:0000252	Microcephaly	10293	TRAIP	OMIM:616777
HP:0000252	Microcephaly	22995	CEP152	ORPHA:808
HP:0000252	Microcephaly	22995	CEP152	OMIM:613823
HP:0000252	Microcephaly	22995	CEP152	ORPHA:2512
HP:0000252	Microcephaly	22995	CEP152	OMIM:614852
HP:0000252	Microcephaly	2961	GTF2E2	OMIM:616943
HP:0000252	Microcephaly	2961	GTF2E2	ORPHA:33364
HP:0000252	Microcephaly	51567	TDP2	OMIM:616949
HP:0000252	Microcephaly	6567	SLC16A2	ORPHA:59
HP:0000252	Microcephaly	6567	SLC16A2	OMIM:300523
HP:0000252	Microcephaly	9276	COPB2	OMIM:617800
HP:0000252	Microcephaly	9276	COPB2	OMIM:619884
HP:0000252	Microcephaly	9276	COPB2	ORPHA:2512
HP:0000252	Microcephaly	3897	L1CAM	ORPHA:1497
HP:0000252	Microcephaly	3897	L1CAM	OMIM:304100
HP:0000252	Microcephaly	3897	L1CAM	OMIM:303350
HP:0000252	Microcephaly	22907	DHX30	OMIM:617804
HP:0000252	Microcephaly	9990	SLC12A6	ORPHA:1496
HP:0000252	Microcephaly	9894	TELO2	OMIM:616954
HP:0000252	Microcephaly	9230	RAB11B	OMIM:617807
HP:0000252	Microcephaly	25939	SAMHD1	ORPHA:51
HP:0000252	Microcephaly	25939	SAMHD1	OMIM:612952
HP:0000252	Microcephaly	79621	RNASEH2B	ORPHA:51
HP:0000252	Microcephaly	79621	RNASEH2B	OMIM:610181
HP:0000252	Microcephaly	103	ADAR	ORPHA:51
HP:0000252	Microcephaly	103	ADAR	OMIM:615010
HP:0000252	Microcephaly	100147744	RNU7-1	ORPHA:51
HP:0000252	Microcephaly	100147744	RNU7-1	OMIM:619487
HP:0000252	Microcephaly	134353	LSM11	ORPHA:51
HP:0000252	Microcephaly	64135	IFIH1	ORPHA:51
HP:0000252	Microcephaly	64135	IFIH1	OMIM:615846
HP:0000252	Microcephaly	10075	HUWE1	OMIM:309590
HP:0000252	Microcephaly	60529	ALX4	OMIM:613451
HP:0000252	Microcephaly	29123	ANKRD11	ORPHA:2332
HP:0000252	Microcephaly	29123	ANKRD11	OMIM:148050
HP:0000252	Microcephaly	9759	HDAC4	ORPHA:1001
HP:0000252	Microcephaly	473	RERE	OMIM:616975
HP:0000252	Microcephaly	473	RERE	ORPHA:1606
HP:0000252	Microcephaly	1806	DPYD	OMIM:274270
HP:0000252	Microcephaly	1806	DPYD	ORPHA:1675
HP:0000252	Microcephaly	8085	KMT2D	ORPHA:2322
HP:0000252	Microcephaly	8085	KMT2D	OMIM:147920
HP:0000252	Microcephaly	7403	KDM6A	ORPHA:2322
HP:0000252	Microcephaly	7403	KDM6A	OMIM:300867
HP:0000252	Microcephaly	7403	KDM6A	OMIM:147920
HP:0000252	Microcephaly	3097	HIVEP2	OMIM:616977
HP:0000252	Microcephaly	54820	NDE1	OMIM:605013
HP:0000252	Microcephaly	9837	GINS1	OMIM:617827
HP:0000252	Microcephaly	79840	NHEJ1	ORPHA:169079
HP:0000252	Microcephaly	55906	ZC4H2	OMIM:314580
HP:0000252	Microcephaly	55906	ZC4H2	OMIM:301041
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:1466
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:33364
HP:0000252	Microcephaly	2068	ERCC2	OMIM:610756
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:220295
HP:0000252	Microcephaly	2068	ERCC2	OMIM:601675
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:910
HP:0000252	Microcephaly	2068	ERCC2	OMIM:278730
HP:0000252	Microcephaly	2067	ERCC1	ORPHA:1466
HP:0000252	Microcephaly	2067	ERCC1	OMIM:610758
HP:0000252	Microcephaly	6597	SMARCA4	ORPHA:1465
HP:0000252	Microcephaly	6597	SMARCA4	OMIM:614609
HP:0000252	Microcephaly	6598	SMARCB1	ORPHA:1465
HP:0000252	Microcephaly	6598	SMARCB1	OMIM:614608
HP:0000252	Microcephaly	6659	SOX4	ORPHA:1465
HP:0000252	Microcephaly	6659	SOX4	OMIM:618506
HP:0000252	Microcephaly	8289	ARID1A	ORPHA:1465
HP:0000252	Microcephaly	8289	ARID1A	OMIM:614607
HP:0000252	Microcephaly	5977	DPF2	ORPHA:1465
HP:0000252	Microcephaly	6601	SMARCC2	ORPHA:1465
HP:0000252	Microcephaly	6602	SMARCD1	ORPHA:1465
HP:0000252	Microcephaly	57492	ARID1B	ORPHA:1465
HP:0000252	Microcephaly	57492	ARID1B	ORPHA:251056
HP:0000252	Microcephaly	57492	ARID1B	OMIM:135900
HP:0000252	Microcephaly	196528	ARID2	ORPHA:1465
HP:0000252	Microcephaly	6664	SOX11	ORPHA:1465
HP:0000252	Microcephaly	6664	SOX11	OMIM:615866
HP:0000252	Microcephaly	134701	RIPPLY2	ORPHA:2311
HP:0000252	Microcephaly	10683	DLL3	ORPHA:2311
HP:0000252	Microcephaly	3955	LFNG	ORPHA:2311
HP:0000252	Microcephaly	84667	HES7	ORPHA:2311
HP:0000252	Microcephaly	145873	MESP2	ORPHA:2311
HP:0000252	Microcephaly	157570	ESCO2	ORPHA:2319
HP:0000252	Microcephaly	157570	ESCO2	OMIM:268300
HP:0000252	Microcephaly	157570	ESCO2	OMIM:216100
HP:0000252	Microcephaly	157570	ESCO2	ORPHA:3103
HP:0000252	Microcephaly	197131	UBR1	ORPHA:2315
HP:0000252	Microcephaly	197131	UBR1	OMIM:243800
HP:0000252	Microcephaly	5723	PSPH	ORPHA:79350
HP:0000252	Microcephaly	5723	PSPH	OMIM:614023
HP:0000252	Microcephaly	26227	PHGDH	ORPHA:79351
HP:0000252	Microcephaly	6638	SNRPN	ORPHA:177907
HP:0000252	Microcephaly	64840	PORCN	OMIM:305600
HP:0000252	Microcephaly	55180	LINS1	OMIM:614340
HP:0000252	Microcephaly	80152	CENPT	OMIM:618702
HP:0000252	Microcephaly	6697	SPR	ORPHA:70594
HP:0000252	Microcephaly	6697	SPR	OMIM:612716
HP:0000252	Microcephaly	6134	RPL10	ORPHA:435938
HP:0000252	Microcephaly	6134	RPL10	OMIM:300998
HP:0000252	Microcephaly	6134	RPL10	ORPHA:459070
HP:0000252	Microcephaly	953	ENTPD1	OMIM:615683
HP:0000252	Microcephaly	953	ENTPD1	ORPHA:401810
HP:0000252	Microcephaly	2893	GRIA4	OMIM:617864
HP:0000252	Microcephaly	84628	NTNG2	OMIM:618718
HP:0000252	Microcephaly	55691	FRMD4A	ORPHA:466688
HP:0000252	Microcephaly	54802	TRIT1	OMIM:617873
HP:0000252	Microcephaly	55733	HHAT	ORPHA:1422
HP:0000252	Microcephaly	55733	HHAT	OMIM:600092
HP:0000252	Microcephaly	4724	NDUFS4	OMIM:252010
HP:0000252	Microcephaly	4724	NDUFS4	ORPHA:2609
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:220386
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:280200
HP:0000252	Microcephaly	2260	FGFR1	OMIM:190440
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:93924
HP:0000252	Microcephaly	2260	FGFR1	OMIM:615465
HP:0000252	Microcephaly	10735	STAG2	ORPHA:220386
HP:0000252	Microcephaly	10735	STAG2	ORPHA:93925
HP:0000252	Microcephaly	10735	STAG2	OMIM:301043
HP:0000252	Microcephaly	10735	STAG2	OMIM:301022
HP:0000252	Microcephaly	8243	SMC1A	ORPHA:220386
HP:0000252	Microcephaly	8243	SMC1A	OMIM:300590
HP:0000252	Microcephaly	8243	SMC1A	OMIM:301044
HP:0000252	Microcephaly	8243	SMC1A	ORPHA:199
HP:0000252	Microcephaly	84700	MYO18B	OMIM:616549
HP:0000252	Microcephaly	8777	MPDZ	OMIM:615219
HP:0000252	Microcephaly	1788	DNMT3A	OMIM:618724
HP:0000252	Microcephaly	8086	AAAS	OMIM:231550
HP:0000252	Microcephaly	8086	AAAS	ORPHA:869
HP:0000252	Microcephaly	26123	TCTN3	ORPHA:2753
HP:0000252	Microcephaly	26123	TCTN3	ORPHA:564
HP:0000252	Microcephaly	2182	ACSL4	OMIM:300387
HP:0000252	Microcephaly	51075	TMX2	OMIM:618730
HP:0000252	Microcephaly	57647	DHX37	OMIM:618731
HP:0000252	Microcephaly	65057	ACD	OMIM:616553
HP:0000252	Microcephaly	65057	ACD	ORPHA:3322
HP:0000252	Microcephaly	7545	ZIC1	OMIM:618736
HP:0000252	Microcephaly	7545	ZIC1	OMIM:616602
HP:0000252	Microcephaly	51763	INPP5K	OMIM:617404
HP:0000252	Microcephaly	51763	INPP5K	ORPHA:559
HP:0000252	Microcephaly	4281	MID1	ORPHA:2745
HP:0000252	Microcephaly	4281	MID1	OMIM:300000
HP:0000252	Microcephaly	246329	STAC3	OMIM:255995
HP:0000252	Microcephaly	8367	H4C5	OMIM:619950
HP:0000252	Microcephaly	3703	STT3A	OMIM:615596
HP:0000252	Microcephaly	3703	STT3A	OMIM:619714
HP:0000252	Microcephaly	3703	STT3A	ORPHA:370921
HP:0000252	Microcephaly	6873	TAF2	OMIM:615599
HP:0000252	Microcephaly	1947	EFNB1	ORPHA:1520
HP:0000252	Microcephaly	1355	COX15	OMIM:615119
HP:0000252	Microcephaly	81857	MED25	OMIM:616449
HP:0000252	Microcephaly	81857	MED25	ORPHA:464738
HP:0000252	Microcephaly	5361	PLXNA1	OMIM:619955
HP:0000252	Microcephaly	4047	LSS	ORPHA:2850
HP:0000252	Microcephaly	4047	LSS	OMIM:618840
HP:0000252	Microcephaly	197	AHSG	ORPHA:2850
HP:0000252	Microcephaly	3694	ITGB6	ORPHA:2850
HP:0000252	Microcephaly	3190	HNRNPK	ORPHA:453504
HP:0000252	Microcephaly	3190	HNRNPK	ORPHA:352665
HP:0000252	Microcephaly	6536	SLC6A9	OMIM:617301
HP:0000252	Microcephaly	2782	GNB1	ORPHA:488613
HP:0000252	Microcephaly	65082	VPS33A	OMIM:617303
HP:0000252	Microcephaly	10730	YME1L1	OMIM:617302
HP:0000252	Microcephaly	28960	DCPS	OMIM:616459
HP:0000252	Microcephaly	51684	SUFU	ORPHA:280200
HP:0000252	Microcephaly	10559	SLC35A1	OMIM:603585
HP:0000252	Microcephaly	80153	EDC3	OMIM:616460
HP:0000252	Microcephaly	55870	ASH1L	OMIM:617796
HP:0000252	Microcephaly	25885	POLR1A	OMIM:616462
HP:0000252	Microcephaly	91869	RFT1	ORPHA:244310
HP:0000252	Microcephaly	91869	RFT1	OMIM:612015
HP:0000252	Microcephaly	816	CAMK2B	OMIM:617799
HP:0000252	Microcephaly	815	CAMK2A	OMIM:617798
HP:0000252	Microcephaly	547	KIF1A	ORPHA:2836
HP:0000252	Microcephaly	547	KIF1A	OMIM:614255
HP:0000252	Microcephaly	5155	PDGFB	ORPHA:1980
HP:0000252	Microcephaly	9213	XPR1	ORPHA:1980
HP:0000252	Microcephaly	5159	PDGFRB	ORPHA:1980
HP:0000252	Microcephaly	57462	MYORG	ORPHA:1980
HP:0000252	Microcephaly	6575	SLC20A2	ORPHA:1980
HP:0000252	Microcephaly	58494	JAM2	ORPHA:1980
HP:0000252	Microcephaly	23184	MESD	OMIM:618644
HP:0000252	Microcephaly	55109	AGGF1	ORPHA:90308
HP:0000252	Microcephaly	2626	GATA4	ORPHA:251071
HP:0000252	Microcephaly	652	BMP4	OMIM:607932
HP:0000252	Microcephaly	652	BMP4	ORPHA:139471
HP:0000252	Microcephaly	54872	PIGG	ORPHA:280
HP:0000252	Microcephaly	7469	NELFA	ORPHA:280
HP:0000252	Microcephaly	1656	DDX6	OMIM:618653
HP:0000252	Microcephaly	1501	CTNND2	ORPHA:281
HP:0000252	Microcephaly	9037	SEMA5A	ORPHA:281
HP:0000252	Microcephaly	26057	ANKRD17	OMIM:619504
HP:0000252	Microcephaly	3737	KCNA2	ORPHA:442835
HP:0000252	Microcephaly	1759	DNM1	ORPHA:442835
HP:0000252	Microcephaly	8120	AP3B2	ORPHA:442835
HP:0000252	Microcephaly	8120	AP3B2	OMIM:617276
HP:0000252	Microcephaly	10991	SLC38A3	ORPHA:442835
HP:0000252	Microcephaly	10991	SLC38A3	OMIM:619881
HP:0000252	Microcephaly	51343	FZR1	ORPHA:442835
HP:0000252	Microcephaly	22906	TRAK1	ORPHA:442835
HP:0000252	Microcephaly	22906	TRAK1	OMIM:618201
HP:0000252	Microcephaly	2566	GABRG2	ORPHA:442835
HP:0000252	Microcephaly	1917	EEF1A2	ORPHA:442835
HP:0000252	Microcephaly	1917	EEF1A2	OMIM:616393
HP:0000252	Microcephaly	2561	GABRB2	ORPHA:442835
HP:0000252	Microcephaly	7532	YWHAG	ORPHA:442835
HP:0000252	Microcephaly	79876	UBA5	ORPHA:442835
HP:0000252	Microcephaly	6328	SCN3A	ORPHA:442835
HP:0000252	Microcephaly	6328	SCN3A	OMIM:617935
HP:0000252	Microcephaly	6328	SCN3A	OMIM:617938
HP:0000252	Microcephaly	2558	GABRA5	ORPHA:442835
HP:0000252	Microcephaly	2906	GRIN2D	ORPHA:442835
HP:0000252	Microcephaly	2906	GRIN2D	OMIM:617162
HP:0000252	Microcephaly	10659	CELF2	ORPHA:442835
HP:0000252	Microcephaly	774	CACNA1B	ORPHA:442835
HP:0000252	Microcephaly	1213	CLTC	ORPHA:442835
HP:0000252	Microcephaly	23334	SZT2	ORPHA:442835
HP:0000252	Microcephaly	51412	ACTL6B	ORPHA:442835
HP:0000252	Microcephaly	51412	ACTL6B	OMIM:618468
HP:0000252	Microcephaly	51412	ACTL6B	OMIM:618470
HP:0000252	Microcephaly	348980	HCN1	ORPHA:442835
HP:0000252	Microcephaly	348980	HCN1	OMIM:618482
HP:0000252	Microcephaly	6506	SLC1A2	ORPHA:442835
HP:0000252	Microcephaly	6506	SLC1A2	OMIM:617105
HP:0000252	Microcephaly	8867	SYNJ1	ORPHA:442835
HP:0000252	Microcephaly	2258	FGF13	ORPHA:442835
HP:0000252	Microcephaly	3745	KCNB1	ORPHA:442835
HP:0000252	Microcephaly	284111	SLC13A5	ORPHA:442835
HP:0000252	Microcephaly	284111	SLC13A5	OMIM:615905
HP:0000252	Microcephaly	25977	NECAP1	ORPHA:442835
HP:0000252	Microcephaly	16	AARS1	ORPHA:442835
HP:0000252	Microcephaly	16	AARS1	OMIM:616339
HP:0000252	Microcephaly	22866	CNKSR2	ORPHA:442835
HP:0000252	Microcephaly	9568	GABBR2	ORPHA:442835
HP:0000252	Microcephaly	9568	GABBR2	OMIM:617903
HP:0000252	Microcephaly	2555	GABRA2	ORPHA:442835
HP:0000252	Microcephaly	2555	GABRA2	OMIM:618557
HP:0000252	Microcephaly	55152	DALRD3	ORPHA:442835
HP:0000252	Microcephaly	55152	DALRD3	OMIM:618910
HP:0000252	Microcephaly	773	CACNA1A	ORPHA:442835
HP:0000252	Microcephaly	26999	CYFIP2	ORPHA:442835
HP:0000252	Microcephaly	26999	CYFIP2	OMIM:618008
HP:0000252	Microcephaly	4915	NTRK2	ORPHA:442835
HP:0000252	Microcephaly	25973	PARS2	ORPHA:442835
HP:0000252	Microcephaly	23097	CDK19	ORPHA:442835
HP:0000252	Microcephaly	64801	ARV1	ORPHA:442835
HP:0000252	Microcephaly	79947	DHDDS	ORPHA:442835
HP:0000252	Microcephaly	2257	FGF12	ORPHA:442835
HP:0000252	Microcephaly	5530	PPP3CA	ORPHA:442835
HP:0000252	Microcephaly	55623	THUMPD1	OMIM:619989
HP:0000252	Microcephaly	57167	SALL4	ORPHA:233
HP:0000252	Microcephaly	9935	MAFB	ORPHA:233
HP:0000252	Microcephaly	1123	CHN1	ORPHA:233
HP:0000252	Microcephaly	54888	NSUN2	ORPHA:235
HP:0000252	Microcephaly	54888	NSUN2	OMIM:611091
HP:0000252	Microcephaly	253738	EBF3	OMIM:617330
HP:0000252	Microcephaly	1182	CLCN3	OMIM:619512
HP:0000252	Microcephaly	1182	CLCN3	OMIM:619517
HP:0000252	Microcephaly	29081	METTL5	OMIM:618665
HP:0000252	Microcephaly	29081	METTL5	ORPHA:2512
HP:0000252	Microcephaly	7862	BRPF1	OMIM:617333
HP:0000252	Microcephaly	286	ANK1	ORPHA:251066
HP:0000252	Microcephaly	5860	QDPR	ORPHA:226
HP:0000252	Microcephaly	5860	QDPR	OMIM:261630
HP:0000252	Microcephaly	7385	UQCRC2	OMIM:615160
HP:0000252	Microcephaly	7750	ZMYM2	OMIM:619522
HP:0000252	Microcephaly	9922	IQSEC1	OMIM:618687
HP:0000252	Microcephaly	85365	ALG2	OMIM:607906
HP:0000252	Microcephaly	85365	ALG2	ORPHA:79326
HP:0000252	Microcephaly	57479	PRR12	OMIM:619539
HP:0000252	Microcephaly	2006	ELN	ORPHA:90348
HP:0000252	Microcephaly	2006	ELN	ORPHA:904
HP:0000252	Microcephaly	10516	FBLN5	ORPHA:90348
HP:0000252	Microcephaly	10516	FBLN5	ORPHA:90349
HP:0000252	Microcephaly	10516	FBLN5	OMIM:219100
HP:0000252	Microcephaly	4052	LTBP1	ORPHA:90349
HP:0000252	Microcephaly	30008	EFEMP2	ORPHA:90349
HP:0000252	Microcephaly	30008	EFEMP2	OMIM:614437
HP:0000252	Microcephaly	404672	GTF2H5	ORPHA:33364
HP:0000252	Microcephaly	833	CARS1	ORPHA:33364
HP:0000252	Microcephaly	833	CARS1	OMIM:618891
HP:0000252	Microcephaly	136647	MPLKIP	ORPHA:33364
HP:0000252	Microcephaly	136647	MPLKIP	OMIM:234050
HP:0000252	Microcephaly	6897	TARS1	ORPHA:33364
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:33364
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:220295
HP:0000252	Microcephaly	2071	ERCC3	OMIM:610651
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:910
HP:0000252	Microcephaly	1173	AP2M1	ORPHA:1942
HP:0000252	Microcephaly	6323	SCN1A	ORPHA:1942
HP:0000252	Microcephaly	340533	NEXMIF	ORPHA:1942
HP:0000252	Microcephaly	1106	CHD2	ORPHA:1942
HP:0000252	Microcephaly	6529	SLC6A1	ORPHA:1942
HP:0000252	Microcephaly	9896	FIG4	OMIM:216340
HP:0000252	Microcephaly	9896	FIG4	ORPHA:208441
HP:0000252	Microcephaly	29893	PSMC3IP	ORPHA:243
HP:0000252	Microcephaly	171568	POLR3H	ORPHA:243
HP:0000252	Microcephaly	2516	NR5A1	ORPHA:243
HP:0000252	Microcephaly	125150	ZSWIM7	ORPHA:243
HP:0000252	Microcephaly	9210	BMP15	ORPHA:243
HP:0000252	Microcephaly	23514	SPIDR	ORPHA:243
HP:0000252	Microcephaly	2492	FSHR	ORPHA:243
HP:0000252	Microcephaly	646	BNC1	ORPHA:243
HP:0000252	Microcephaly	6576	SLC25A1	OMIM:615182
HP:0000252	Microcephaly	8621	CDK13	OMIM:617360
HP:0000252	Microcephaly	133686	NADK2	OMIM:616034
HP:0000252	Microcephaly	133686	NADK2	ORPHA:431361
HP:0000252	Microcephaly	5587	PRKD1	OMIM:617364
HP:0000252	Microcephaly	29968	PSAT1	OMIM:616038
HP:0000252	Microcephaly	8905	AP1S2	OMIM:304340
HP:0000252	Microcephaly	8905	AP1S2	ORPHA:85329
HP:0000252	Microcephaly	3736	KCNA1	ORPHA:1934
HP:0000252	Microcephaly	9091	PIGQ	ORPHA:1934
HP:0000252	Microcephaly	81603	TRIM8	ORPHA:1934
HP:0000252	Microcephaly	81603	TRIM8	OMIM:619428
HP:0000252	Microcephaly	2902	GRIN1	ORPHA:1934
HP:0000252	Microcephaly	2902	GRIN1	OMIM:614254
HP:0000252	Microcephaly	2902	GRIN1	OMIM:619814
HP:0000252	Microcephaly	2902	GRIN1	ORPHA:208447
HP:0000252	Microcephaly	79751	SLC25A22	ORPHA:1934
HP:0000252	Microcephaly	150094	SIK1	ORPHA:1934
HP:0000252	Microcephaly	23312	DMXL2	ORPHA:1934
HP:0000252	Microcephaly	2917	GRM7	ORPHA:1934
HP:0000252	Microcephaly	2917	GRM7	OMIM:618922
HP:0000252	Microcephaly	170302	ARX	ORPHA:1934
HP:0000252	Microcephaly	170302	ARX	OMIM:308350
HP:0000252	Microcephaly	170302	ARX	OMIM:300004
HP:0000252	Microcephaly	170302	ARX	ORPHA:2508
HP:0000252	Microcephaly	170302	ARX	ORPHA:452
HP:0000252	Microcephaly	6326	SCN2A	ORPHA:1934
HP:0000252	Microcephaly	51227	PIGP	ORPHA:1934
HP:0000252	Microcephaly	51227	PIGP	OMIM:617599
HP:0000252	Microcephaly	6324	SCN1B	ORPHA:1934
HP:0000252	Microcephaly	4761	NEUROD2	ORPHA:1934
HP:0000252	Microcephaly	8803	SUCLA2	ORPHA:1933
HP:0000252	Microcephaly	54808	DYM	ORPHA:239
HP:0000252	Microcephaly	54808	DYM	OMIM:223800
HP:0000252	Microcephaly	54808	DYM	OMIM:607326
HP:0000252	Microcephaly	51750	RTEL1	OMIM:615190
HP:0000252	Microcephaly	51750	RTEL1	ORPHA:3322
HP:0000252	Microcephaly	10466	COG5	ORPHA:263487
HP:0000252	Microcephaly	10466	COG5	OMIM:613612
HP:0000252	Microcephaly	30000	TNPO2	OMIM:619556
HP:0000252	Microcephaly	498	ATP5F1A	OMIM:616045
HP:0000252	Microcephaly	23314	SATB2	ORPHA:251028
HP:0000252	Microcephaly	23314	SATB2	ORPHA:251019
HP:0000252	Microcephaly	23314	SATB2	OMIM:612313
HP:0000252	Microcephaly	4729	NDUFV2	OMIM:618229
HP:0000252	Microcephaly	4729	NDUFV2	ORPHA:2609
HP:0000252	Microcephaly	2627	GATA6	OMIM:600001
HP:0000252	Microcephaly	55869	HDAC8	OMIM:300882
HP:0000252	Microcephaly	55869	HDAC8	ORPHA:199
HP:0000252	Microcephaly	1349	COX7B	OMIM:300887
HP:0000252	Microcephaly	1349	COX7B	ORPHA:2556
HP:0000252	Microcephaly	1349	COX7B	OMIM:309801
HP:0000252	Microcephaly	4695	NDUFA2	OMIM:618235
HP:0000252	Microcephaly	79868	ALG13	OMIM:300884
HP:0000252	Microcephaly	9179	AP4M1	OMIM:612936
HP:0000252	Microcephaly	9179	AP4M1	ORPHA:280763
HP:0000252	Microcephaly	3192	HNRNPU	OMIM:617391
HP:0000252	Microcephaly	3192	HNRNPU	ORPHA:238769
HP:0000252	Microcephaly	56915	EXOSC5	OMIM:619576
HP:0000252	Microcephaly	8260	NAA10	OMIM:300855
HP:0000252	Microcephaly	8260	NAA10	ORPHA:568
HP:0000252	Microcephaly	8260	NAA10	OMIM:309800
HP:0000252	Microcephaly	11274	USP18	OMIM:617397
HP:0000252	Microcephaly	340665	CYP26C1	ORPHA:398189
HP:0000252	Microcephaly	5831	PYCR1	OMIM:612940
HP:0000252	Microcephaly	92344	GORAB	OMIM:231070
HP:0000252	Microcephaly	6898	TAT	ORPHA:28378
HP:0000252	Microcephaly	2898	GRIK2	OMIM:619580
HP:0000252	Microcephaly	80324	PUS1	OMIM:600462
HP:0000252	Microcephaly	80324	PUS1	ORPHA:2598
HP:0000252	Microcephaly	9496	TBX4	ORPHA:261279
HP:0000252	Microcephaly	10524	KAT5	OMIM:619103
HP:0000252	Microcephaly	9451	EIF2AK3	OMIM:226980
HP:0000252	Microcephaly	9451	EIF2AK3	ORPHA:1667
HP:0000252	Microcephaly	5277	PIGA	OMIM:300868
HP:0000252	Microcephaly	5277	PIGA	OMIM:301072
HP:0000252	Microcephaly	8635	RNASET2	OMIM:612951
HP:0000252	Microcephaly	5000	ORC4	OMIM:613800
HP:0000252	Microcephaly	5000	ORC4	ORPHA:2554
HP:0000252	Microcephaly	4990	SIX6	OMIM:206900
HP:0000252	Microcephaly	6657	SOX2	OMIM:206900
HP:0000252	Microcephaly	81620	CDT1	OMIM:613804
HP:0000252	Microcephaly	81620	CDT1	ORPHA:2554
HP:0000252	Microcephaly	23594	ORC6	OMIM:613803
HP:0000252	Microcephaly	23594	ORC6	ORPHA:2554
HP:0000252	Microcephaly	990	CDC6	OMIM:613805
HP:0000252	Microcephaly	990	CDC6	ORPHA:2554
HP:0000252	Microcephaly	50814	NSDHL	OMIM:300831
HP:0000252	Microcephaly	50814	NSDHL	ORPHA:251383
HP:0000252	Microcephaly	57003	CCDC47	OMIM:618268
HP:0000252	Microcephaly	10847	SRCAP	OMIM:619595
HP:0000252	Microcephaly	55526	DHTKD1	OMIM:204750
HP:0000252	Microcephaly	1528	CYB5A	ORPHA:621
HP:0000252	Microcephaly	1727	CYB5R3	ORPHA:621
HP:0000252	Microcephaly	1727	CYB5R3	OMIM:250800
HP:0000252	Microcephaly	526	ATP6V1B2	ORPHA:79500
HP:0000252	Microcephaly	57465	TBC1D24	ORPHA:79500
HP:0000252	Microcephaly	57465	TBC1D24	ORPHA:352596
HP:0000252	Microcephaly	57465	TBC1D24	OMIM:220500
HP:0000252	Microcephaly	57465	TBC1D24	OMIM:615338
HP:0000252	Microcephaly	90522	YIF1B	OMIM:619125
HP:0000252	Microcephaly	55755	CDK5RAP2	OMIM:604804
HP:0000252	Microcephaly	55755	CDK5RAP2	ORPHA:2512
HP:0000252	Microcephaly	6472	SHMT2	OMIM:619121
HP:0000252	Microcephaly	90416	CCDC32	OMIM:619123
HP:0000252	Microcephaly	9895	TECPR2	ORPHA:320385
HP:0000252	Microcephaly	9895	TECPR2	OMIM:615031
HP:0000252	Microcephaly	3739	KCNA4	OMIM:618284
HP:0000252	Microcephaly	4683	NBN	ORPHA:647
HP:0000252	Microcephaly	4683	NBN	OMIM:251260
HP:0000252	Microcephaly	4693	NDP	ORPHA:649
HP:0000252	Microcephaly	4693	NDP	ORPHA:891
HP:0000252	Microcephaly	3735	KARS1	OMIM:619147
HP:0000252	Microcephaly	8665	EIF3F	OMIM:618295
HP:0000252	Microcephaly	221692	PHACTR1	OMIM:618298
HP:0000252	Microcephaly	8517	IKBKG	OMIM:308300
HP:0000252	Microcephaly	10134	BCAP31	OMIM:300475
HP:0000252	Microcephaly	10134	BCAP31	ORPHA:369939
HP:0000252	Microcephaly	3763	KCNJ6	ORPHA:435628
HP:0000252	Microcephaly	3763	KCNJ6	OMIM:614098
HP:0000252	Microcephaly	341640	FREM2	ORPHA:2052
HP:0000252	Microcephaly	23426	GRIP1	ORPHA:2052
HP:0000252	Microcephaly	10262	SF3B4	OMIM:154400
HP:0000252	Microcephaly	8506	CNTNAP1	OMIM:618186
HP:0000252	Microcephaly	145173	B3GLCT	ORPHA:709
HP:0000252	Microcephaly	145173	B3GLCT	OMIM:261540
HP:0000252	Microcephaly	7109	TRAPPC10	OMIM:620027
HP:0000252	Microcephaly	7109	TRAPPC10	ORPHA:2512
HP:0000252	Microcephaly	55325	UFSP2	OMIM:620028
HP:0000252	Microcephaly	10274	STAG1	ORPHA:502434
HP:0000252	Microcephaly	10274	STAG1	OMIM:617635
HP:0000252	Microcephaly	1119	CHKA	OMIM:620023
HP:0000252	Microcephaly	8496	PPFIBP1	OMIM:620024
HP:0000252	Microcephaly	5111	PCNA	OMIM:615919
HP:0000252	Microcephaly	5111	PCNA	ORPHA:438134
HP:0000252	Microcephaly	2629	GBA1	OMIM:608013
HP:0000252	Microcephaly	57176	VARS2	OMIM:615917
HP:0000252	Microcephaly	183	AGT	OMIM:267430
HP:0000252	Microcephaly	5972	REN	OMIM:267430
HP:0000252	Microcephaly	185	AGTR1	OMIM:267430
HP:0000252	Microcephaly	1636	ACE	OMIM:267430
HP:0000252	Microcephaly	54968	TMEM70	ORPHA:1194
HP:0000252	Microcephaly	5689	PSMB1	OMIM:620038
HP:0000252	Microcephaly	23431	AP4E1	OMIM:613744
HP:0000252	Microcephaly	23431	AP4E1	ORPHA:280763
HP:0000252	Microcephaly	25782	RAB3GAP2	OMIM:212720
HP:0000252	Microcephaly	25782	RAB3GAP2	OMIM:614225
HP:0000252	Microcephaly	25782	RAB3GAP2	ORPHA:2510
HP:0000252	Microcephaly	25782	RAB3GAP2	ORPHA:1387
HP:0000252	Microcephaly	10472	ZBTB18	ORPHA:36367
HP:0000252	Microcephaly	10472	ZBTB18	OMIM:612337
HP:0000252	Microcephaly	7298	TYMS	OMIM:620040
HP:0000252	Microcephaly	1351	COX8A	OMIM:619059
HP:0000252	Microcephaly	100131801	PET100	OMIM:619055
HP:0000252	Microcephaly	5428	POLG	ORPHA:726
HP:0000252	Microcephaly	7080	NKX2-1	ORPHA:209905
HP:0000252	Microcephaly	4212	MEIS2	OMIM:600987
HP:0000252	Microcephaly	4212	MEIS2	ORPHA:261190
HP:0000252	Microcephaly	26053	AUTS2	ORPHA:352490
HP:0000252	Microcephaly	26053	AUTS2	OMIM:615834
HP:0000252	Microcephaly	79813	EHMT1	OMIM:610253
HP:0000252	Microcephaly	79813	EHMT1	ORPHA:261652
HP:0000252	Microcephaly	79813	EHMT1	ORPHA:96147
HP:0000252	Microcephaly	26005	C2CD3	OMIM:615948
HP:0000252	Microcephaly	26005	C2CD3	ORPHA:434179
HP:0000252	Microcephaly	10382	TUBB4A	OMIM:612438
HP:0000252	Microcephaly	23265	EXOC7	OMIM:619072
HP:0000252	Microcephaly	1802	DPH2	OMIM:620062
HP:0000252	Microcephaly	443	ASPA	OMIM:271900
HP:0000252	Microcephaly	149371	EXOC8	OMIM:619076
HP:0000252	Microcephaly	285175	UNC80	OMIM:616801
HP:0000252	Microcephaly	285175	UNC80	ORPHA:371364
HP:0000252	Microcephaly	83475	DOHH	OMIM:620066
HP:0000252	Microcephaly	92667	MGME1	ORPHA:352447
HP:0000252	Microcephaly	92667	MGME1	OMIM:615084
HP:0000252	Microcephaly	55027	HEATR3	OMIM:620072
HP:0000252	Microcephaly	5700	PSMC1	OMIM:620071
HP:0000252	Microcephaly	58508	KMT2C	ORPHA:261652
HP:0000252	Microcephaly	58508	KMT2C	OMIM:617768
HP:0000252	Microcephaly	4089	SMAD4	OMIM:139210
HP:0000252	Microcephaly	5591	PRKDC	OMIM:615966
HP:0000252	Microcephaly	25828	TXN2	OMIM:616811
HP:0000252	Microcephaly	3187	HNRNPH1	OMIM:620083
HP:0000252	Microcephaly	63895	PIEZO2	OMIM:248700
HP:0000252	Microcephaly	63895	PIEZO2	ORPHA:2461
HP:0000252	Microcephaly	22880	MORC2	OMIM:619090
HP:0000252	Microcephaly	22880	MORC2	ORPHA:466768
HP:0000252	Microcephaly	4677	NARS1	OMIM:619091
HP:0000252	Microcephaly	4677	NARS1	OMIM:619092
HP:0000252	Microcephaly	7355	SLC35A2	OMIM:300896
HP:0000252	Microcephaly	7355	SLC35A2	ORPHA:356961
HP:0000252	Microcephaly	80184	CEP290	OMIM:611134
HP:0000252	Microcephaly	80184	CEP290	ORPHA:564
HP:0000252	Microcephaly	5073	PARN	ORPHA:3322
HP:0000252	Microcephaly	5073	PARN	OMIM:616353
HP:0000252	Microcephaly	7015	TERT	ORPHA:3322
HP:0000252	Microcephaly	7015	TERT	OMIM:613989
HP:0000252	Microcephaly	26277	TINF2	ORPHA:3322
HP:0000252	Microcephaly	26277	TINF2	OMIM:613990
HP:0000252	Microcephaly	1736	DKC1	ORPHA:3322
HP:0000252	Microcephaly	1736	DKC1	OMIM:305000
HP:0000252	Microcephaly	92154	MTSS2	OMIM:620086
HP:0000252	Microcephaly	197322	ACSF3	ORPHA:289504
HP:0000252	Microcephaly	63925	ZNF335	ORPHA:329228
HP:0000252	Microcephaly	2702	GJA5	OMIM:612474
HP:0000252	Microcephaly	2703	GJA8	OMIM:612474
HP:0000252	Microcephaly	55690	PACS1	ORPHA:329224
HP:0000252	Microcephaly	51053	GMNN	OMIM:616835
HP:0000252	Microcephaly	51053	GMNN	ORPHA:2554
HP:0000252	Microcephaly	10664	CTCF	OMIM:615502
HP:0000252	Microcephaly	10664	CTCF	ORPHA:363611
HP:0000252	Microcephaly	6307	MSMO1	OMIM:616834
HP:0000252	Microcephaly	2200	FBN1	ORPHA:2462
HP:0000252	Microcephaly	6497	SKI	ORPHA:2462
HP:0000252	Microcephaly	6497	SKI	ORPHA:1606
HP:0000252	Microcephaly	6497	SKI	OMIM:182212
HP:0000252	Microcephaly	1828	DSG1	OMIM:615508
HP:0000252	Microcephaly	3720	JARID2	OMIM:620098
HP:0000252	Microcephaly	579	NKX3-2	OMIM:613330
HP:0000252	Microcephaly	85358	SHANK3	OMIM:606232
HP:0000252	Microcephaly	549	AUH	ORPHA:67046
HP:0000252	Microcephaly	55784	MCTP2	ORPHA:1596
HP:0000252	Microcephaly	6301	SARS1	OMIM:617709
HP:0000252	Microcephaly	55997	CFC1	OMIM:605376
HP:0000252	Microcephaly	26224	FBXL3	OMIM:606220
HP:0000252	Microcephaly	5925	RB1	ORPHA:1587
HP:0000252	Microcephaly	27315	PGAP2	OMIM:614207
HP:0000252	Microcephaly	83987	CCDC8	OMIM:614205
HP:0000252	Microcephaly	80185	TTI2	OMIM:615541
HP:0000252	Microcephaly	80185	TTI2	ORPHA:391307
HP:0000252	Microcephaly	128989	TANGO2	OMIM:616878
HP:0000252	Microcephaly	128989	TANGO2	ORPHA:480864
HP:0000252	Microcephaly	55644	OSGEP	OMIM:617729
HP:0000252	Microcephaly	55644	OSGEP	ORPHA:2065
HP:0000252	Microcephaly	57572	DOCK6	OMIM:614219
HP:0000252	Microcephaly	22931	RAB18	OMIM:614222
HP:0000252	Microcephaly	22931	RAB18	ORPHA:2510
HP:0000252	Microcephaly	23443	SLC35A3	OMIM:615553
HP:0000252	Microcephaly	6925	TCF4	ORPHA:2896
HP:0000252	Microcephaly	6925	TCF4	OMIM:610954
HP:0000252	Microcephaly	202018	TAPT1	OMIM:616897
HP:0000252	Microcephaly	54805	CNNM2	OMIM:616418
HP:0000252	Microcephaly	6591	SNAI2	ORPHA:2884
HP:0000252	Microcephaly	3815	KIT	ORPHA:2884
HP:0000252	Microcephaly	3756	KCNH1	ORPHA:420561
HP:0000252	Microcephaly	1376	CPT2	OMIM:608836
HP:0000252	Microcephaly	10717	AP4B1	ORPHA:280763
HP:0000252	Microcephaly	10717	AP4B1	OMIM:614066
HP:0000252	Microcephaly	11154	AP4S1	ORPHA:280763
HP:0000252	Microcephaly	11154	AP4S1	OMIM:614067
HP:0000252	Microcephaly	9320	TRIP12	OMIM:617752
HP:0000252	Microcephaly	5879	RAC1	OMIM:617751
HP:0000252	Microcephaly	5879	RAC1	ORPHA:500159
HP:0000252	Microcephaly	1663	DDX11	OMIM:613398
HP:0000252	Microcephaly	2186	BPTF	OMIM:617755
HP:0000252	Microcephaly	738	VPS51	OMIM:618606
HP:0000252	Microcephaly	9439	MED23	OMIM:614249
HP:0000252	Microcephaly	5430	POLR2A	OMIM:618603
HP:0000252	Microcephaly	22827	PUF60	OMIM:615583
HP:0000252	Microcephaly	22827	PUF60	ORPHA:508498
HP:0000252	Microcephaly	26235	FBXL4	OMIM:615471
HP:0000252	Microcephaly	23019	CNOT1	OMIM:618500
HP:0000252	Microcephaly	55823	VPS11	ORPHA:466934
HP:0000252	Microcephaly	55823	VPS11	OMIM:616683
HP:0000252	Microcephaly	6777	STAT5B	OMIM:618985
HP:0000252	Microcephaly	4897	NRCAM	OMIM:619833
HP:0000252	Microcephaly	23498	HAAO	OMIM:617660
HP:0000252	Microcephaly	161582	DNAAF4	OMIM:615482
HP:0000252	Microcephaly	9578	CDC42BPB	OMIM:619841
HP:0000252	Microcephaly	65993	MRPS34	OMIM:617664
HP:0000252	Microcephaly	80816	ASXL3	OMIM:615485
HP:0000252	Microcephaly	80816	ASXL3	ORPHA:352577
HP:0000252	Microcephaly	8942	KYNU	OMIM:617661
HP:0000252	Microcephaly	387787	LIPT2	OMIM:617668
HP:0000252	Microcephaly	1841	DTYMK	OMIM:619847
HP:0000252	Microcephaly	27229	TUBGCP4	OMIM:616335
HP:0000252	Microcephaly	27229	TUBGCP4	ORPHA:2518
HP:0000252	Microcephaly	3149	HMGB3	OMIM:300915
HP:0000252	Microcephaly	2132	EXT2	ORPHA:466926
HP:0000252	Microcephaly	2132	EXT2	OMIM:616682
HP:0000252	Microcephaly	51112	TRAPPC12	OMIM:617669
HP:0000252	Microcephaly	55636	CHD7	ORPHA:138
HP:0000252	Microcephaly	55636	CHD7	OMIM:214800
HP:0000252	Microcephaly	9723	SEMA3E	ORPHA:138
HP:0000252	Microcephaly	284403	WDR62	OMIM:604317
HP:0000252	Microcephaly	284403	WDR62	ORPHA:2512
HP:0000252	Microcephaly	288	ANK3	OMIM:615493
HP:0000252	Microcephaly	23250	ATP11A	OMIM:619851
HP:0000252	Microcephaly	1020	CDK5	OMIM:616342
HP:0000252	Microcephaly	7994	KAT6A	ORPHA:457193
HP:0000252	Microcephaly	7994	KAT6A	OMIM:616268
HP:0000252	Microcephaly	1716	DGUOK	OMIM:251880
HP:0000252	Microcephaly	8550	MAPKAPK5	OMIM:619869
HP:0000252	Microcephaly	23007	PLCH1	ORPHA:93925
HP:0000252	Microcephaly	23007	PLCH1	OMIM:619895
HP:0000252	Microcephaly	788	SLC25A20	ORPHA:159
HP:0000252	Microcephaly	5518	PPP2R1A	OMIM:616362
HP:0000252	Microcephaly	23126	POGZ	OMIM:616364
HP:0000252	Microcephaly	23126	POGZ	ORPHA:468678
HP:0000252	Microcephaly	55773	TBC1D23	OMIM:617695
HP:0000252	Microcephaly	8558	CDK10	OMIM:617694
HP:0000252	Microcephaly	51692	CPSF3	OMIM:619876
HP:0000252	Microcephaly	116115	ZNF526	OMIM:619877
HP:0000252	Microcephaly	5590	PRKCZ	ORPHA:1606
HP:0000252	Microcephaly	2563	GABRD	ORPHA:1606
HP:0000252	Microcephaly	23013	SPEN	ORPHA:1606
HP:0000252	Microcephaly	23013	SPEN	OMIM:619312
HP:0000252	Microcephaly	8510	MMP23B	ORPHA:1606
HP:0000252	Microcephaly	7798	LUZP1	ORPHA:1606
HP:0000252	Microcephaly	10630	PDPN	ORPHA:1606
HP:0000252	Microcephaly	10277	UBE4B	ORPHA:1606
HP:0000252	Microcephaly	8514	KCNAB2	ORPHA:1606
HP:0000252	Microcephaly	63976	PRDM16	ORPHA:1606
HP:0000252	Microcephaly	54897	CASZ1	ORPHA:1606
HP:0000252	Microcephaly	1859	DYRK1A	ORPHA:464311
HP:0000252	Microcephaly	1859	DYRK1A	ORPHA:268261
HP:0000252	Microcephaly	1859	DYRK1A	OMIM:614104
HP:0000252	Microcephaly	285362	SUMF1	ORPHA:585
HP:0000252	Microcephaly	83479	DDX59	ORPHA:2919
HP:0000252	Microcephaly	83479	DDX59	OMIM:174300
HP:0000252	Microcephaly	56098	PCDHGC4	OMIM:619880
HP:0000252	Microcephaly	4285	MIPEP	OMIM:617228
HP:0000252	Microcephaly	641	BLM	OMIM:210900
HP:0000252	Microcephaly	79633	FAT4	ORPHA:314679
HP:0000252	Microcephaly	8642	DCHS1	ORPHA:314679
HP:0000252	Microcephaly	57192	MCOLN1	ORPHA:578
HP:0000252	Microcephaly	57192	MCOLN1	OMIM:252650
HP:0000252	Microcephaly	5354	PLP1	OMIM:312080
HP:0000252	Microcephaly	3798	KIF5A	OMIM:617235
HP:0000252	Microcephaly	57679	ALS2	OMIM:205100
HP:0000252	Microcephaly	57679	ALS2	ORPHA:300605
HP:0000252	Microcephaly	8565	YARS1	OMIM:619418
HP:0000252	Microcephaly	374969	SVBP	OMIM:618569
HP:0000252	Microcephaly	84295	PHF6	ORPHA:127
HP:0000252	Microcephaly	84295	PHF6	OMIM:301900
HP:0000252	Microcephaly	6135	RPL11	ORPHA:124
HP:0000252	Microcephaly	6138	RPL15	ORPHA:124
HP:0000252	Microcephaly	6229	RPS24	ORPHA:124
HP:0000252	Microcephaly	6125	RPL5	ORPHA:124
HP:0000252	Microcephaly	6204	RPS10	ORPHA:124
HP:0000252	Microcephaly	6224	RPS20	ORPHA:124
HP:0000252	Microcephaly	6165	RPL35A	ORPHA:124
HP:0000252	Microcephaly	2623	GATA1	ORPHA:124
HP:0000252	Microcephaly	6223	RPS19	ORPHA:124
HP:0000252	Microcephaly	6223	RPS19	OMIM:105650
HP:0000252	Microcephaly	6232	RPS27	ORPHA:124
HP:0000252	Microcephaly	6231	RPS26	ORPHA:124
HP:0000252	Microcephaly	11224	RPL35	ORPHA:124
HP:0000252	Microcephaly	6160	RPL31	ORPHA:124
HP:0000252	Microcephaly	6218	RPS17	ORPHA:124
HP:0000252	Microcephaly	6201	RPS7	ORPHA:124
HP:0000252	Microcephaly	6155	RPL27	ORPHA:124
HP:0000252	Microcephaly	6154	RPL26	ORPHA:124
HP:0000252	Microcephaly	6210	RPS15A	ORPHA:124
HP:0000252	Microcephaly	90121	TSR2	ORPHA:124
HP:0000252	Microcephaly	6141	RPL18	ORPHA:124
HP:0000252	Microcephaly	6235	RPS29	ORPHA:124
HP:0000252	Microcephaly	6234	RPS28	ORPHA:124
HP:0000252	Microcephaly	51816	ADA2	ORPHA:124
HP:0000252	Microcephaly	9742	IFT140	OMIM:266920
HP:0000252	Microcephaly	55656	INTS8	OMIM:618572
HP:0000252	Microcephaly	165918	RNF168	OMIM:611943
HP:0000252	Microcephaly	165918	RNF168	ORPHA:420741
HP:0000252	Microcephaly	389827	MYMK	OMIM:254940
HP:0000252	Microcephaly	389827	MYMK	ORPHA:1358
HP:0000252	Microcephaly	51574	LARP7	OMIM:615071
HP:0000252	Microcephaly	286053	NSMCE2	OMIM:617253
HP:0000252	Microcephaly	84894	LINGO1	OMIM:618103
HP:0000252	Microcephaly	160418	TMTC3	OMIM:617255
HP:0000252	Microcephaly	123606	NIPA1	ORPHA:261183
HP:0000252	Microcephaly	7283	TUBG1	ORPHA:261183
HP:0000252	Microcephaly	7283	TUBG1	OMIM:615412
HP:0000252	Microcephaly	81614	NIPA2	ORPHA:261183
HP:0000252	Microcephaly	8473	OGT	OMIM:300997
HP:0000252	Microcephaly	6418	SET	OMIM:618106
HP:0000252	Microcephaly	9526	MPDU1	OMIM:609180
HP:0000252	Microcephaly	1120	CHKB	OMIM:602541
HP:0000252	Microcephaly	7707	ZNF148	OMIM:617260
HP:0000252	Microcephaly	6299	SALL1	OMIM:107480
HP:0000252	Microcephaly	3778	KCNMA1	OMIM:618596
HP:0000252	Microcephaly	112939	NACC1	ORPHA:500545
HP:0000252	Microcephaly	5053	PAH	OMIM:261600
HP:0000252	Microcephaly	5053	PAH	ORPHA:79254
HP:0000252	Microcephaly	5053	PAH	ORPHA:2209
HP:0000252	Microcephaly	114803	MYSM1	OMIM:618116
HP:0000252	Microcephaly	4041	LRP5	OMIM:259770
HP:0000252	Microcephaly	4041	LRP5	ORPHA:891
HP:0000252	Microcephaly	3039	HBA1	ORPHA:98791
HP:0000252	Microcephaly	3040	HBA2	ORPHA:98791
HP:0000252	Microcephaly	51132	RLIM	OMIM:300978
HP:0000252	Microcephaly	4998	ORC1	OMIM:224690
HP:0000252	Microcephaly	4998	ORC1	ORPHA:2554
HP:0000252	Microcephaly	27341	RRP7A	OMIM:619453
HP:0000252	Microcephaly	3376	IARS1	ORPHA:541423
HP:0000252	Microcephaly	1312	COMT	ORPHA:567
HP:0000252	Microcephaly	221037	JMJD1C	ORPHA:567
HP:0000252	Microcephaly	2812	GP1BB	ORPHA:567
HP:0000252	Microcephaly	6239	RREB1	ORPHA:567
HP:0000252	Microcephaly	6899	TBX1	ORPHA:567
HP:0000252	Microcephaly	6899	TBX1	ORPHA:1727
HP:0000252	Microcephaly	6899	TBX1	OMIM:192430
HP:0000252	Microcephaly	6899	TBX1	OMIM:188400
HP:0000252	Microcephaly	7290	HIRA	ORPHA:567
HP:0000252	Microcephaly	9632	SEC24C	ORPHA:567
HP:0000252	Microcephaly	7353	UFD1	ORPHA:567
HP:0000252	Microcephaly	421	ARVCF	ORPHA:567
HP:0000252	Microcephaly	5077	PAX3	OMIM:148820
HP:0000252	Microcephaly	5077	PAX3	ORPHA:896
HP:0000252	Microcephaly	54880	BCOR	ORPHA:568
HP:0000252	Microcephaly	54880	BCOR	OMIM:300166
HP:0000252	Microcephaly	54880	BCOR	OMIM:309800
HP:0000252	Microcephaly	6821	SUOX	OMIM:272300
HP:0000252	Microcephaly	538	ATP7A	ORPHA:565
HP:0000252	Microcephaly	538	ATP7A	OMIM:309400
HP:0000252	Microcephaly	84314	TMEM107	ORPHA:564
HP:0000252	Microcephaly	80776	B9D2	ORPHA:564
HP:0000252	Microcephaly	79600	TCTN1	ORPHA:564
HP:0000252	Microcephaly	57096	RPGRIP1	ORPHA:564
HP:0000252	Microcephaly	79848	CSPP1	ORPHA:564
HP:0000252	Microcephaly	51259	TMEM216	ORPHA:564
HP:0000252	Microcephaly	57545	CC2D2A	ORPHA:564
HP:0000252	Microcephaly	79583	TMEM231	ORPHA:564
HP:0000252	Microcephaly	91147	TMEM67	ORPHA:564
HP:0000252	Microcephaly	79770	TXNDC15	ORPHA:564
HP:0000252	Microcephaly	27077	B9D1	ORPHA:564
HP:0000252	Microcephaly	23322	RPGRIP1L	ORPHA:564
HP:0000252	Microcephaly	54903	MKS1	ORPHA:564
HP:0000252	Microcephaly	54903	MKS1	OMIM:249000
HP:0000252	Microcephaly	65062	TMEM237	ORPHA:564
HP:0000252	Microcephaly	23258	DENND5A	OMIM:617281
HP:0000252	Microcephaly	92949	ADAMTSL1	ORPHA:521445
HP:0000252	Microcephaly	84065	TMEM222	OMIM:619470
HP:0000252	Microcephaly	57187	THOC2	OMIM:300957
HP:0000252	Microcephaly	57187	THOC2	ORPHA:457240
HP:0000252	Microcephaly	10526	IPO8	OMIM:619472
HP:0000252	Microcephaly	348180	CTU2	OMIM:618142
HP:0000252	Microcephaly	94005	PIGS	OMIM:618143
HP:0000252	Microcephaly	55651	NHP2	OMIM:224230
HP:0000252	Microcephaly	55505	NOP10	OMIM:224230
HP:0000252	Microcephaly	6711	SPTBN1	OMIM:619475
HP:0000252	Microcephaly	3643	INSR	ORPHA:508
HP:0000252	Microcephaly	2131	EXT1	ORPHA:502
HP:0000252	Microcephaly	7227	TRPS1	ORPHA:502
HP:0000252	Microcephaly	6872	TAF1	OMIM:300966
HP:0000252	Microcephaly	6872	TAF1	ORPHA:480907
HP:0000252	Microcephaly	374879	ZNF699	OMIM:619488
HP:0000252	Microcephaly	60676	PAPPA2	OMIM:619489
HP:0000252	Microcephaly	1654	DDX3X	OMIM:300958
HP:0000252	Microcephaly	1654	DDX3X	ORPHA:457260
HP:0000252	Microcephaly	7284	TUFM	OMIM:610678
HP:0000252	Microcephaly	407975	MIR17HG	ORPHA:391646
HP:0000252	Microcephaly	55599	RNPC3	OMIM:618160
HP:0000252	Microcephaly	5805	PTS	OMIM:261640
HP:0000252	Microcephaly	63899	NSUN3	OMIM:619012
HP:0000252	Microcephaly	7157	TP53	OMIM:618165
HP:0000252	Microcephaly	2193	FARSA	OMIM:619013
HP:0000252	Microcephaly	5557	PRIM1	OMIM:620005
HP:0000252	Microcephaly	84081	NSRP1	OMIM:620001
HP:0000252	Microcephaly	54936	ADPRS	OMIM:618170
HP:0000252	Microcephaly	9562	MINPP1	ORPHA:284339
HP:0000252	Microcephaly	64432	MRPS25	OMIM:619025
HP:0000252	Microcephaly	84842	HPDL	OMIM:619026
HP:0000252	Microcephaly	51002	TPRKB	ORPHA:2065
HP:0000252	Microcephaly	112858	TP53RK	ORPHA:2065
HP:0000252	Microcephaly	8270	LAGE3	ORPHA:2065
HP:0000252	Microcephaly	55294	FBXW7	OMIM:620012
HP:0000252	Microcephaly	1183	CLCN4	OMIM:300114
HP:0000252	Microcephaly	1183	CLCN4	ORPHA:485350
HP:0000252	Microcephaly	123263	MTFMT	OMIM:614947
HP:0000252	Microcephaly	10667	FARS2	OMIM:614946
HP:0000252	Microcephaly	9839	ZEB2	OMIM:235730
HP:0000252	Microcephaly	80232	WDR26	ORPHA:513456
HP:0000252	Microcephaly	4010	LMX1B	ORPHA:495818
HP:0000252	Microcephaly	6812	STXBP1	ORPHA:495818
HP:0000252	Microcephaly	4552	MTRR	ORPHA:2169
HP:0000252	Microcephaly	80055	PGAP1	OMIM:615802
HP:0000252	Microcephaly	57582	KCNT1	OMIM:614959
HP:0000252	Microcephaly	10225	CD96	OMIM:211750
HP:0000252	Microcephaly	10225	CD96	ORPHA:1308
HP:0000252	Microcephaly	1763	DNA2	OMIM:615807
HP:0000252	Microcephaly	6197	RPS6KA3	OMIM:303600
HP:0000252	Microcephaly	6197	RPS6KA3	ORPHA:192
HP:0000252	Microcephaly	8913	CACNA1G	OMIM:618087
HP:0000252	Microcephaly	80204	FBXO11	OMIM:618089
HP:0000252	Microcephaly	1509	CTSD	OMIM:610127
HP:0000252	Microcephaly	23325	WASHC4	OMIM:615817
HP:0000252	Microcephaly	57531	HACE1	ORPHA:464282
HP:0000252	Microcephaly	57531	HACE1	OMIM:616756
HP:0000252	Microcephaly	7156	TOP3A	OMIM:618097
HP:0000252	Microcephaly	1009	CDH11	ORPHA:1299
HP:0000252	Microcephaly	54496	PRMT7	ORPHA:464288
HP:0000252	Microcephaly	54496	PRMT7	OMIM:617157
HP:0000252	Microcephaly	5063	PAK3	OMIM:300558
HP:0000252	Microcephaly	10056	FARSB	OMIM:613658
HP:0000252	Microcephaly	54499	TMCO1	OMIM:213980
HP:0000252	Microcephaly	440138	ALG11	OMIM:613661
HP:0000252	Microcephaly	440138	ALG11	ORPHA:280071
HP:0000252	Microcephaly	8481	OFD1	OMIM:311200
HP:0000252	Microcephaly	5422	POLA1	ORPHA:163976
HP:0000252	Microcephaly	5422	POLA1	OMIM:301030
HP:0000252	Microcephaly	51067	YARS2	ORPHA:2598
HP:0000252	Microcephaly	28962	OSTM1	OMIM:259720
HP:0000252	Microcephaly	79228	THOC6	OMIM:613680
HP:0000252	Microcephaly	2033	EP300	OMIM:613684
HP:0000252	Microcephaly	2033	EP300	OMIM:180849
HP:0000252	Microcephaly	5830	PEX5	OMIM:616716
HP:0000252	Microcephaly	5830	PEX5	ORPHA:912
HP:0000252	Microcephaly	219285	SAMD9L	ORPHA:2585
HP:0000252	Microcephaly	27238	GPKOW	ORPHA:2570
HP:0000252	Microcephaly	5648	MASP1	OMIM:257920
HP:0000252	Microcephaly	26115	TANC2	OMIM:618906
HP:0000252	Microcephaly	55593	OTUD5	OMIM:301056
HP:0000252	Microcephaly	5160	PDHA1	OMIM:312170
HP:0000252	Microcephaly	5160	PDHA1	ORPHA:79243
HP:0000252	Microcephaly	54101	RIPK4	ORPHA:1234
HP:0000252	Microcephaly	10982	MAPRE2	OMIM:616734
HP:0000252	Microcephaly	10982	MAPRE2	ORPHA:2505
HP:0000252	Microcephaly	3176	HNMT	OMIM:616739
HP:0000252	Microcephaly	4131	MAP1B	OMIM:618918
HP:0000252	Microcephaly	1778	DYNC1H1	OMIM:614563
HP:0000252	Microcephaly	3796	KIF2A	OMIM:615411
HP:0000252	Microcephaly	1911	PHC1	OMIM:615414
HP:0000252	Microcephaly	1911	PHC1	ORPHA:2512
HP:0000252	Microcephaly	259232	NALCN	OMIM:615419
HP:0000252	Microcephaly	259232	NALCN	ORPHA:371364
HP:0000252	Microcephaly	3759	KCNJ2	OMIM:170390
HP:0000252	Microcephaly	100506658	OCLN	ORPHA:1229
HP:0000252	Microcephaly	100506658	OCLN	OMIM:251290
HP:0000252	Microcephaly	54539	NDUFB11	ORPHA:2556
HP:0000252	Microcephaly	54539	NDUFB11	ORPHA:2609
HP:0000252	Microcephaly	54539	NDUFB11	OMIM:309801
HP:0000252	Microcephaly	3052	HCCS	ORPHA:2556
HP:0000252	Microcephaly	3052	HCCS	OMIM:309801
HP:0000252	Microcephaly	57511	COG6	OMIM:614576
HP:0000252	Microcephaly	57511	COG6	OMIM:615328
HP:0000252	Microcephaly	83696	TRAPPC9	ORPHA:352530
HP:0000252	Microcephaly	29980	DONSON	OMIM:617604
HP:0000252	Microcephaly	29980	DONSON	OMIM:251230
HP:0000252	Microcephaly	84172	POLR1B	OMIM:618939
HP:0000252	Microcephaly	60	ACTB	OMIM:243310
HP:0000252	Microcephaly	60	ACTB	ORPHA:2995
HP:0000252	Microcephaly	23476	BRD4	ORPHA:199
HP:0000252	Microcephaly	9126	SMC3	ORPHA:199
HP:0000252	Microcephaly	157680	VPS13B	ORPHA:193
HP:0000252	Microcephaly	157680	VPS13B	OMIM:216550
HP:0000252	Microcephaly	81689	ISCA1	OMIM:617613
HP:0000252	Microcephaly	1861	TOR1A	OMIM:618947
HP:0000252	Microcephaly	64857	PLEKHG2	OMIM:616763
HP:0000252	Microcephaly	51520	LARS1	OMIM:615438
HP:0000252	Microcephaly	4329	ALDH6A1	OMIM:614105
HP:0000252	Microcephaly	25914	RTTN	ORPHA:468631
HP:0000252	Microcephaly	25914	RTTN	OMIM:614833
HP:0000252	Microcephaly	80781	COL18A1	OMIM:267750
HP:0000252	Microcephaly	7343	UBTF	ORPHA:500180
HP:0000252	Microcephaly	55617	TASP1	OMIM:618950
HP:0000252	Microcephaly	60528	ELAC2	OMIM:615440
HP:0000252	Microcephaly	28957	MRPS28	OMIM:618958
HP:0000252	Microcephaly	3832	KIF11	ORPHA:2526
HP:0000252	Microcephaly	3832	KIF11	OMIM:152950
HP:0000252	Microcephaly	259266	ASPM	OMIM:608716
HP:0000252	Microcephaly	259266	ASPM	ORPHA:2512
HP:0000252	Microcephaly	7991	TUSC3	OMIM:611093
HP:0000252	Microcephaly	4763	NF1	ORPHA:139474
HP:0000252	Microcephaly	1804	DPP6	ORPHA:2514
HP:0000252	Microcephaly	1804	DPP6	OMIM:616311
HP:0000252	Microcephaly	8192	CLPP	OMIM:614129
HP:0000252	Microcephaly	85378	TUBGCP6	ORPHA:2518
HP:0000252	Microcephaly	85378	TUBGCP6	OMIM:251270
HP:0000252	Microcephaly	4621	MYH3	ORPHA:2990
HP:0000252	Microcephaly	4621	MYH3	OMIM:178110
HP:0000252	Microcephaly	4621	MYH3	OMIM:193700
HP:0000252	Microcephaly	1146	CHRNG	ORPHA:2990
HP:0000252	Microcephaly	128637	TBC1D20	ORPHA:2510
HP:0000252	Microcephaly	71	ACTG1	ORPHA:2995
HP:0000252	Microcephaly	11113	CIT	ORPHA:2512
HP:0000252	Microcephaly	9928	KIF14	ORPHA:2512
HP:0000252	Microcephaly	9928	KIF14	OMIM:616258
HP:0000252	Microcephaly	9928	KIF14	OMIM:617914
HP:0000252	Microcephaly	55262	TRAPPC14	ORPHA:2512
HP:0000252	Microcephaly	163786	SASS6	ORPHA:2512
HP:0000252	Microcephaly	4176	MCM7	ORPHA:2512
HP:0000252	Microcephaly	80254	CEP63	ORPHA:2512
HP:0000252	Microcephaly	23310	NCAPD3	ORPHA:2512
HP:0000252	Microcephaly	23310	NCAPD3	OMIM:617984
HP:0000252	Microcephaly	79648	MCPH1	ORPHA:2512
HP:0000252	Microcephaly	23141	ANKLE2	ORPHA:2512
HP:0000252	Microcephaly	9662	CEP135	ORPHA:2512
HP:0000252	Microcephaly	57082	KNL1	ORPHA:2512
HP:0000252	Microcephaly	1021	CDK6	ORPHA:2512
HP:0000252	Microcephaly	8884	SLC5A6	OMIM:618973
HP:0000252	Microcephaly	55367	PIDD1	OMIM:619827
HP:0000252	Microcephaly	10749	KIF1C	ORPHA:397946
HP:0000252	Microcephaly	25915	NDUFAF3	ORPHA:2609
HP:0000252	Microcephaly	51103	NDUFAF1	ORPHA:2609
HP:0000252	Microcephaly	91942	NDUFAF2	ORPHA:2609
HP:0000252	Microcephaly	51300	TIMMDC1	ORPHA:2609
HP:0000252	Microcephaly	4716	NDUFB10	ORPHA:2609
HP:0000252	Microcephaly	4723	NDUFV1	ORPHA:2609
HP:0000252	Microcephaly	55572	FOXRED1	ORPHA:2609
HP:0000252	Microcephaly	284184	NDUFAF8	ORPHA:2609
HP:0000252	Microcephaly	55863	TMEM126B	ORPHA:2609
HP:0000252	Microcephaly	4535	MT-ND1	ORPHA:2609
HP:0000252	Microcephaly	4537	MT-ND3	ORPHA:2609
HP:0000252	Microcephaly	4694	NDUFA1	ORPHA:2609
HP:0000252	Microcephaly	4720	NDUFS2	ORPHA:2609
HP:0000252	Microcephaly	4726	NDUFS6	ORPHA:2609
HP:0000252	Microcephaly	4728	NDUFS8	ORPHA:2609
HP:0000252	Microcephaly	4722	NDUFS3	ORPHA:2609
HP:0000252	Microcephaly	79133	NDUFAF5	ORPHA:2609
HP:0000252	Microcephaly	126328	NDUFA11	ORPHA:2609
HP:0000252	Microcephaly	4709	NDUFB3	ORPHA:2609
HP:0000252	Microcephaly	80224	NUBPL	ORPHA:2609
HP:0000252	Microcephaly	29078	NDUFAF4	ORPHA:2609
HP:0000252	Microcephaly	374291	NDUFS7	ORPHA:2609
HP:0000252	Microcephaly	4700	NDUFA6	ORPHA:2609
HP:0000252	Microcephaly	4536	MT-ND2	ORPHA:2609
HP:0000252	Microcephaly	4715	NDUFB9	ORPHA:2609
HP:0000252	Microcephaly	104	ADARB1	OMIM:618862
HP:0000252	Microcephaly	60684	TRAPPC11	OMIM:615356
HP:0000252	Microcephaly	60684	TRAPPC11	ORPHA:869
HP:0000252	Microcephaly	60684	TRAPPC11	ORPHA:369840
HP:0000252	Microcephaly	3020	H3-3A	OMIM:619720
HP:0000252	Microcephaly	3021	H3-3B	OMIM:619721
HP:0000252	Microcephaly	10300	KATNB1	OMIM:616212
HP:0000252	Microcephaly	4056	LTC4S	OMIM:614037
HP:0000252	Microcephaly	72	ACTG2	ORPHA:2604
HP:0000252	Microcephaly	472	ATM	OMIM:208900
HP:0000252	Microcephaly	5610	EIF2AK2	OMIM:618877
HP:0000252	Microcephaly	3781	KCNN2	OMIM:619725
HP:0000252	Microcephaly	137492	VPS37A	ORPHA:319199
HP:0000252	Microcephaly	2590	GALNT2	OMIM:618885
HP:0000252	Microcephaly	51319	RSRC1	OMIM:618402
HP:0000252	Microcephaly	23761	PISD	OMIM:618889
HP:0000252	Microcephaly	7020	TFAP2A	OMIM:113620
HP:0000252	Microcephaly	55703	POLR3B	OMIM:619742
HP:0000252	Microcephaly	5442	POLRMT	OMIM:619743
HP:0000252	Microcephaly	4297	KMT2A	ORPHA:319182
HP:0000252	Microcephaly	4297	KMT2A	OMIM:605130
HP:0000252	Microcephaly	25930	PTPN23	OMIM:618890
HP:0000252	Microcephaly	79731	NARS2	OMIM:616239
HP:0000252	Microcephaly	339983	NAT8L	OMIM:614063
HP:0000252	Microcephaly	8879	SGPL1	OMIM:617575
HP:0000252	Microcephaly	8021	NUP214	OMIM:618426
HP:0000252	Microcephaly	8364	H4C3	OMIM:619758
HP:0000252	Microcephaly	145258	GSC	OMIM:602471
HP:0000252	Microcephaly	53335	BCL11A	OMIM:617101
HP:0000252	Microcephaly	9993	DGCR2	OMIM:192430
HP:0000252	Microcephaly	8220	ESS2	OMIM:192430
HP:0000252	Microcephaly	8214	DGCR6	OMIM:192430
HP:0000252	Microcephaly	54487	DGCR8	OMIM:192430
HP:0000252	Microcephaly	2271	FH	OMIM:606812
HP:0000252	Microcephaly	57724	EPG5	OMIM:242840
HP:0000252	Microcephaly	23162	MAPK8IP3	OMIM:618443
HP:0000252	Microcephaly	10463	SLC30A9	OMIM:617595
HP:0000252	Microcephaly	80173	IFT74	OMIM:617119
HP:0000252	Microcephaly	10195	ALG3	ORPHA:79321
HP:0000252	Microcephaly	10195	ALG3	OMIM:601110
HP:0000252	Microcephaly	8295	TRRAP	OMIM:618454
HP:0000252	Microcephaly	81570	CLPB	OMIM:616271
HP:0000252	Microcephaly	6878	TAF6	OMIM:617126
HP:0000252	Microcephaly	51013	EXOSC1	OMIM:619304
HP:0000252	Microcephaly	84706	GPT2	OMIM:616281
HP:0000252	Microcephaly	84706	GPT2	ORPHA:477673
HP:0000252	Microcephaly	54892	NCAPG2	OMIM:618460
HP:0000252	Microcephaly	51728	POLR3K	OMIM:619310
HP:0000252	Microcephaly	85476	GFM1	OMIM:609060
HP:0000252	Microcephaly	6650	CAPN15	OMIM:619318
HP:0000252	Microcephaly	256297	PTF1A	OMIM:609069
HP:0000252	Microcephaly	221496	LEMD2	OMIM:619322
HP:0000252	Microcephaly	29998	BICRA	OMIM:619325
HP:0000252	Microcephaly	8882	ZPR1	OMIM:619321
HP:0000252	Microcephaly	4081	MAB21L1	OMIM:618479
HP:0000252	Microcephaly	84892	POMGNT2	ORPHA:899
HP:0000252	Microcephaly	148789	B3GALNT2	ORPHA:899
HP:0000252	Microcephaly	1282	COL4A1	ORPHA:899
HP:0000252	Microcephaly	10329	RXYLT1	ORPHA:899
HP:0000252	Microcephaly	1605	DAG1	ORPHA:899
HP:0000252	Microcephaly	11041	B4GAT1	ORPHA:899
HP:0000252	Microcephaly	8869	ST3GAL5	OMIM:609056
HP:0000252	Microcephaly	23221	RHOBTB2	OMIM:618004
HP:0000252	Microcephaly	2530	FUT8	OMIM:618005
HP:0000252	Microcephaly	79641	ROGDI	OMIM:226750
HP:0000252	Microcephaly	7965	AIMP2	OMIM:618006
HP:0000252	Microcephaly	1781	DYNC1I2	OMIM:618492
HP:0000252	Microcephaly	191	AHCY	ORPHA:88618
HP:0000252	Microcephaly	8091	HMGA2	ORPHA:94063
HP:0000252	Microcephaly	23592	LEMD3	ORPHA:94063
HP:0000252	Microcephaly	26276	VPS33B	OMIM:208085
HP:0000252	Microcephaly	372	ARCN1	OMIM:617164
HP:0000252	Microcephaly	54681	P4HTM	OMIM:618493
HP:0000252	Microcephaly	60386	SLC25A19	ORPHA:99742
HP:0000252	Microcephaly	9791	PTDSS1	OMIM:151050
HP:0000252	Microcephaly	37	ACADVL	OMIM:201475
HP:0000252	Microcephaly	5281	PIGF	OMIM:619356
HP:0000252	Microcephaly	1387	CREBBP	OMIM:180849
HP:0000252	Microcephaly	57514	ARHGAP31	OMIM:100300
HP:0000252	Microcephaly	29926	GMPPA	ORPHA:869
HP:0000252	Microcephaly	10681	GNB5	OMIM:617182
HP:0000252	Microcephaly	79143	MBOAT7	OMIM:617188
HP:0000252	Microcephaly	5080	PAX6	ORPHA:893
HP:0000252	Microcephaly	627	BDNF	ORPHA:893
HP:0000252	Microcephaly	7490	WT1	ORPHA:893
HP:0000252	Microcephaly	6904	TBCD	OMIM:617193
HP:0000252	Microcephaly	23554	TSPAN12	ORPHA:891
HP:0000252	Microcephaly	79797	ZNF408	ORPHA:891
HP:0000252	Microcephaly	8322	FZD4	ORPHA:891
HP:0000252	Microcephaly	2733	GLE1	OMIM:611890
HP:0000252	Microcephaly	2261	FGFR3	ORPHA:85165
HP:0000252	Microcephaly	2261	FGFR3	OMIM:610474
HP:0000252	Microcephaly	11011	TLK2	OMIM:618050
HP:0000252	Microcephaly	4702	NDUFA8	OMIM:619272
HP:0000252	Microcephaly	27183	VPS4A	OMIM:619273
HP:0000252	Microcephaly	10128	LRPPRC	OMIM:220111
HP:0000252	Microcephaly	81555	YIPF5	OMIM:619278
HP:0000252	Microcephaly	55532	SLC30A10	ORPHA:309854
HP:0000252	Microcephaly	8443	GNPAT	OMIM:222765
HP:0000252	Microcephaly	9442	MED27	OMIM:619286
HP:0000252	Microcephaly	64324	NSD1	ORPHA:228415
HP:0000252	Microcephaly	3899	AFF3	OMIM:619297
HP:0000252	Microcephaly	36	ACADSB	OMIM:610006
HP:0000252	Microcephaly	8546	AP3B1	OMIM:608233
HP:0000252	Microcephaly	51199	NIN	OMIM:614851
HP:0000252	Microcephaly	51199	NIN	ORPHA:319675
HP:0000252	Microcephaly	4338	MOCS2	OMIM:252160
HP:0000252	Microcephaly	197257	LDHD	OMIM:245450
HP:0000252	Microcephaly	9255	AIMP1	OMIM:260600
HP:0000252	Microcephaly	6804	STX1A	ORPHA:904
HP:0000252	Microcephaly	7461	CLIP2	ORPHA:904
HP:0000252	Microcephaly	84277	DNAJC30	ORPHA:904
HP:0000252	Microcephaly	8468	FKBP6	ORPHA:904
HP:0000252	Microcephaly	5982	RFC2	ORPHA:904
HP:0000252	Microcephaly	2969	GTF2I	ORPHA:904
HP:0000252	Microcephaly	3984	LIMK1	ORPHA:904
HP:0000252	Microcephaly	9569	GTF2IRD1	ORPHA:904
HP:0000252	Microcephaly	155382	VPS37D	ORPHA:904
HP:0000252	Microcephaly	155368	METTL27	ORPHA:904
HP:0000252	Microcephaly	114049	BUD23	ORPHA:904
HP:0000252	Microcephaly	7458	EIF4H	ORPHA:904
HP:0000252	Microcephaly	84163	GTF2IRD2	ORPHA:904
HP:0000252	Microcephaly	9275	BCL7B	ORPHA:904
HP:0000252	Microcephaly	26608	TBL2	ORPHA:904
HP:0000252	Microcephaly	653361	NCF1	ORPHA:904
HP:0000252	Microcephaly	135886	TMEM270	ORPHA:904
HP:0000252	Microcephaly	51085	MLXIPL	ORPHA:904
HP:0000252	Microcephaly	9031	BAZ1B	ORPHA:904
HP:0000252	Microcephaly	5297	PI4KA	ORPHA:98889
HP:0000252	Microcephaly	27286	SRPX2	ORPHA:98889
HP:0000252	Microcephaly	375748	ERCC6L2	OMIM:615715
HP:0000252	Microcephaly	93210	PGAP3	OMIM:615716
HP:0000252	Microcephaly	2521	FUS	ORPHA:300605
HP:0000252	Microcephaly	80208	SPG11	ORPHA:300605
HP:0000252	Microcephaly	10280	SIGMAR1	ORPHA:300605
HP:0000252	Microcephaly	10558	SPTLC1	ORPHA:300605
HP:0000252	Microcephaly	6628	SNRPB	ORPHA:1393
HP:0000252	Microcephaly	6628	SNRPB	OMIM:117650
HP:0000252	Microcephaly	162417	NAGS	ORPHA:927
HP:0000252	Microcephaly	50628	GEMIN4	OMIM:617913
HP:0000252	Microcephaly	5824	PEX19	OMIM:614886
HP:0000252	Microcephaly	5824	PEX19	ORPHA:912
HP:0000252	Microcephaly	867	CBL	OMIM:613563
HP:0000252	Microcephaly	55670	PEX26	ORPHA:912
HP:0000252	Microcephaly	5828	PEX2	ORPHA:912
HP:0000252	Microcephaly	8504	PEX3	ORPHA:912
HP:0000252	Microcephaly	8799	PEX11B	ORPHA:912
HP:0000252	Microcephaly	9409	PEX16	ORPHA:912
HP:0000252	Microcephaly	5190	PEX6	ORPHA:912
HP:0000252	Microcephaly	5189	PEX1	ORPHA:912
HP:0000252	Microcephaly	5193	PEX12	ORPHA:912
HP:0000252	Microcephaly	5194	PEX13	ORPHA:912
HP:0000252	Microcephaly	5195	PEX14	ORPHA:912
HP:0000252	Microcephaly	5192	PEX10	ORPHA:912
HP:0000252	Microcephaly	7507	XPA	ORPHA:910
HP:0000252	Microcephaly	7507	XPA	OMIM:278700
HP:0000252	Microcephaly	7508	XPC	ORPHA:910
HP:0000252	Microcephaly	1643	DDB2	ORPHA:910
HP:0000252	Microcephaly	4173	MCM4	OMIM:609981
HP:0000252	Microcephaly	55187	VPS13D	OMIM:607317
HP:0000252	Microcephaly	10157	AASS	ORPHA:2203
HP:0000252	Microcephaly	79631	EFL1	OMIM:617941
HP:0000252	Microcephaly	5429	POLH	OMIM:278750
HP:0000252	Microcephaly	101929726	MYMX	ORPHA:1358
HP:0000252	Microcephaly	2058	EPRS1	OMIM:617951
HP:0000252	Microcephaly	1063	CENPF	OMIM:243605
HP:0000252	Microcephaly	9361	LONP1	ORPHA:79243
HP:0000252	Microcephaly	20	ABCA2	OMIM:618808
HP:0000252	Microcephaly	91647	ATPAF2	OMIM:604273
HP:0000252	Microcephaly	1729	DIAPH1	OMIM:616632
HP:0000252	Microcephaly	175	AGA	OMIM:208400
HP:0000252	Microcephaly	6785	ELOVL4	OMIM:614457
HP:0000252	Microcephaly	9419	CRIPT	OMIM:615789
HP:0000252	Microcephaly	27010	TPK1	OMIM:614458
HP:0000252	Microcephaly	2584	GALK1	ORPHA:79237
HP:0000252	Microcephaly	7874	USP7	ORPHA:500055
HP:0000252	Microcephaly	11019	LIAS	OMIM:614462
HP:0000252	Microcephaly	4337	MOCS1	OMIM:252150
HP:0000252	Microcephaly	29957	SLC25A24	OMIM:612289
HP:0000252	Microcephaly	3704	ITPA	OMIM:616647
HP:0000252	Microcephaly	56270	WDR45B	OMIM:617977
HP:0000252	Microcephaly	54870	QRICH1	OMIM:617982
HP:0000252	Microcephaly	6911	TBX6	ORPHA:1797
HP:0000252	Microcephaly	23397	NCAPH	OMIM:617985
HP:0000252	Microcephaly	54676	GTPBP2	OMIM:617988
HP:0000252	Microcephaly	158326	FREM1	OMIM:614485
HP:0000252	Microcephaly	200205	IBA57	OMIM:615330
HP:0000252	Microcephaly	25974	MMACHC	ORPHA:79282
HP:0000252	Microcephaly	25974	MMACHC	OMIM:277400
HP:0000252	Microcephaly	23133	PHF8	OMIM:300263
HP:0000252	Microcephaly	51733	UPB1	OMIM:613161
HP:0000252	Microcephaly	23001	WDFY3	OMIM:617520
HP:0000252	Microcephaly	79587	CARS2	OMIM:616672
HP:0000252	Microcephaly	35	ACADS	ORPHA:26792
HP:0000252	Microcephaly	55753	OGDHL	OMIM:619701
HP:0000252	Microcephaly	5052	PRDX1	OMIM:277400
HP:0000252	Microcephaly	91949	COG7	OMIM:608779
HP:0000252	Microcephaly	91949	COG7	ORPHA:79333
HP:0000252	Microcephaly	4204	MECP2	OMIM:300673
HP:0000252	Microcephaly	4204	MECP2	ORPHA:778
HP:0000252	Microcephaly	6792	CDKL5	OMIM:300672
HP:0000252	Microcephaly	1267	CNP	OMIM:619071
HP:0000252	Microcephaly	10617	STAMBP	OMIM:614261
HP:0000252	Microcephaly	91452	ACBD5	OMIM:618863
HP:0000252	Microcephaly	84879	MFSD2A	OMIM:616486
HP:0000252	Microcephaly	7737	RNF113A	OMIM:300953
HP:0000252	Microcephaly	51660	MPC1	OMIM:614741
HP:0000252	Microcephaly	1161	ERCC8	ORPHA:90324
HP:0000252	Microcephaly	2074	ERCC6	ORPHA:90324
HP:0000252	Microcephaly	10564	ARFGEF2	OMIM:608097
HP:0000252	Microcephaly	2290	FOXG1	OMIM:613454
HP:0000252	Microcephaly	8573	CASK	OMIM:300749
HP:0000252	Microcephaly	4719	NDUFS1	OMIM:618226
HP:0000252	Microcephaly	55627	SMPD4	OMIM:618622
HP:0000252	Microcephaly	8818	DPM2	ORPHA:329178
HP:0000252	Microcephaly	11340	EXOSC8	ORPHA:2254
HP:0000252	Microcephaly	5393	EXOSC9	ORPHA:2254
HP:0000252	Microcephaly	23287	AGTPBP1	ORPHA:2254
HP:0000252	Microcephaly	51010	EXOSC3	ORPHA:2254
HP:0000252	Microcephaly	51010	EXOSC3	OMIM:614678
HP:0000252	Microcephaly	7443	VRK1	ORPHA:2254
HP:0000252	Microcephaly	91137	SLC25A46	ORPHA:2254
HP:0000252	Microcephaly	51091	SEPSECS	OMIM:613811
HP:0000252	Microcephaly	51091	SEPSECS	ORPHA:2524
HP:0000252	Microcephaly	22845	DOLK	ORPHA:91131
HP:0000252	Microcephaly	132158	GLYCTK	ORPHA:941
HP:0000252	Microcephaly	56052	ALG1	ORPHA:79327
HP:0000252	Microcephaly	79796	ALG9	ORPHA:79328
HP:0000252	Microcephaly	4247	MGAT2	ORPHA:79329
HP:0000252	Microcephaly	11277	TREX1	OMIM:225750
HP:0000252	Microcephaly	8318	CDC45	OMIM:617063
HP:0000252	Microcephaly	122553	TRAPPC6B	OMIM:617862
HP:0000252	Microcephaly	5859	QARS1	OMIM:615760
HP:0000252	Microcephaly	116461	TSEN15	OMIM:617026
HP:0000252	Microcephaly	116461	TSEN15	ORPHA:2524
HP:0000252	Microcephaly	9326	ZNHIT3	OMIM:260565
HP:0000252	Microcephaly	51741	WWOX	OMIM:616211
HP:0000252	Microcephaly	283989	TSEN54	ORPHA:2524
HP:0000252	Microcephaly	283989	TSEN54	OMIM:277470
HP:0000252	Microcephaly	79042	TSEN34	ORPHA:2524
HP:0000252	Microcephaly	80746	TSEN2	ORPHA:2524
HP:0000252	Microcephaly	80746	TSEN2	OMIM:612389
HP:0000252	Microcephaly	57688	ZSWIM6	OMIM:617865
HP:0000252	Microcephaly	2137	EXTL3	OMIM:617425
HP:0000252	Microcephaly	4190	MDH1	OMIM:618959
HP:0000252	Microcephaly	55704	CCDC88A	OMIM:617507
HP:0000252	Microcephaly	998	CDC42	OMIM:616737
HP:0000252	Microcephaly	6334	SCN8A	OMIM:614558
HP:0000252	Microcephaly	50	ACO2	OMIM:614559
HP:0000252	Microcephaly	84197	POMK	OMIM:615249
HP:0000252	Microcephaly	57038	RARS2	OMIM:611523
HP:0000252	Microcephaly	6509	SLC1A4	OMIM:616657
HP:0000252	Microcephaly	10978	CLP1	OMIM:615803
HP:0000252	Microcephaly	54862	CC2D1A	OMIM:608443
HP:0000252	Microcephaly	9382	COG1	OMIM:611209
HP:0000252	Microcephaly	9382	COG1	ORPHA:263508
HP:0000252	Microcephaly	2891	GRIA2	OMIM:618917
HP:0000252	Microcephaly	23065	EMC1	ORPHA:480898
HP:0000252	Microcephaly	63908	NAPB	OMIM:620033
HP:0000252	Microcephaly	9342	SNAP29	OMIM:609528
HP:0000252	Microcephaly	51651	PTRH2	OMIM:616263
HP:0000252	Microcephaly	23545	ATP6V0A2	ORPHA:357074
HP:0000252	Microcephaly	23545	ATP6V0A2	ORPHA:2834
HP:0000252	Microcephaly	23545	ATP6V0A2	OMIM:278250
HP:0000252	Microcephaly	523	ATP6V1A	ORPHA:357074
HP:0000252	Microcephaly	529	ATP6V1E1	ORPHA:357074
HP:0000252	Microcephaly	440	ASNS	OMIM:615574
HP:0000252	Microcephaly	5538	PPT1	OMIM:256730
HP:0000252	Microcephaly	6709	SPTAN1	OMIM:613477
HP:0000252	Microcephaly	55275	VPS53	OMIM:615851
HP:0000252	Microcephaly	203190	LGI3	OMIM:620007
HP:0000252	Microcephaly	2806	GOT2	OMIM:618721
HP:0000252	Microcephaly	51294	PCDH12	OMIM:251280
HP:0000252	Microcephaly	29920	PYCR2	ORPHA:481152
HP:0000252	Microcephaly	114034	TOE1	OMIM:614969
HP:0000252	Microcephaly	5048	PAFAH1B1	ORPHA:95232
HP:0000252	Microcephaly	3913	LAMB2	OMIM:609049
HP:0000252	Microcephaly	84153	RNASEH2C	OMIM:610329
HP:0000252	Microcephaly	83480	PUS3	ORPHA:488627
HP:0000252	Microcephaly	79087	ALG12	ORPHA:79324
HP:0000252	Microcephaly	79087	ALG12	OMIM:607143
HP:0000252	Microcephaly	2801	GOLGA2	OMIM:620240
HP:0000252	Microcephaly	23096	IQSEC2	ORPHA:397933
HP:0000252	Microcephaly	55163	PNPO	OMIM:610090
HP:0000252	Microcephaly	84188	FAR1	ORPHA:438178
HP:0000252	Microcephaly	10844	TUBGCP2	OMIM:618737
HP:0000252	Microcephaly	221927	BRAT1	OMIM:614498
HP:0000252	Microcephaly	84342	COG8	ORPHA:95428
HP:0000252	Microcephaly	11284	PNKP	OMIM:613402
HP:0000252	Microcephaly	10535	RNASEH2A	OMIM:610333
HP:0000252	Microcephaly	7407	VARS1	OMIM:617802
HP:0000252	Microcephaly	9373	PLAA	OMIM:617527
HP:0000252	Microcephaly	27445	PCLO	OMIM:608027
HP:0000252	Microcephaly	9343	EFTUD2	OMIM:610536
HP:0000252	Microcephaly	23516	SLC39A14	ORPHA:521406
HP:0000252	Microcephaly	6513	SLC2A1	ORPHA:71277
HP:0000252	Microcephaly	1967	EIF2B1	OMIM:603896
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:98794
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:98795
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:411511
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:411515
HP:0000252	Microcephaly	4948	OCA2	ORPHA:98794
HP:0000252	Microcephaly	57194	ATP10A	ORPHA:411515
HP:0000252	Microcephaly	9853	RUSC2	OMIM:617773
HP:0000252	Microcephaly	83700	JAM3	OMIM:613730
HP:0000252	Microcephaly	53616	ADAM22	OMIM:617933
HP:0000252	Microcephaly	6571	SLC18A2	ORPHA:352649
HP:0000252	Microcephaly	22854	NTNG1	ORPHA:3095
HP:0000252	Microcephaly	55610	VPS50	OMIM:619685
HP:0000252	Microcephaly	51506	UFC1	OMIM:618076
HP:0000252	Microcephaly	6392	SDHD	OMIM:619167
HP:0000252	Microcephaly	9915	ARNT2	OMIM:615926
HP:0000252	Microcephaly	271	AMPD2	OMIM:615809
HP:0000252	Microcephaly	79068	FTO	OMIM:612938
HP:0000252	Microcephaly	22796	COG2	OMIM:617395
HP:0000252	Microcephaly	22796	COG2	ORPHA:435934
HP:0000252	Microcephaly	9512	PMPCB	OMIM:617954
HP:0000252	Microcephaly	5119	CHMP1A	OMIM:614961
HP:0000252	Microcephaly	9692	PRORP	OMIM:619737
HP:0000252	Microcephaly	8560	DEGS1	OMIM:618404
HP:0000252	Microcephaly	55858	TMEM165	OMIM:614727
HP:0000252	Microcephaly	54675	CRLS1	OMIM:620167
HP:0000252	Microcephaly	10087	CERT1	OMIM:616351
HP:0000252	Microcephaly	22884	WDR37	OMIM:618652
HP:0000252	Microcephaly	3188	HNRNPH2	OMIM:300986
HP:0000252	Microcephaly	1641	DCX	ORPHA:2148
HP:0000252	Microcephaly	11212	PLPBP	OMIM:617290
HP:0000252	Microcephaly	51501	HIKESHI	OMIM:616881
HP:0000252	Microcephaly	57468	SLC12A5	OMIM:616645
HP:0000252	Microcephaly	4659	PPP1R12A	OMIM:618820
HP:0000252	Microcephaly	10236	HNRNPR	OMIM:620073
HP:0000252	Microcephaly	56947	MFF	ORPHA:485421
HP:0000252	Microcephaly	56947	MFF	OMIM:617086
HP:0000252	Microcephaly	539	ATP5PO	OMIM:620359
HP:0000252	Microcephaly	9440	MED17	OMIM:613668
HP:0000252	Microcephaly	118924	FRA10AC1	OMIM:620113
HP:0000252	Microcephaly	8813	DPM1	OMIM:608799
HP:0000252	Microcephaly	8813	DPM1	ORPHA:79322
HP:0000252	Microcephaly	125988	MICOS13	OMIM:618329
HP:0000252	Microcephaly	1719	DHFR	OMIM:613839
HP:0000252	Microcephaly	10079	ATP9A	OMIM:620242
HP:0000252	Microcephaly	205327	C2orf69	OMIM:619423
HP:0000252	Microcephaly	1496	CTNNA2	OMIM:618174
HP:0000252	Microcephaly	51693	TRAPPC2L	OMIM:618331
HP:0000252	Microcephaly	57017	COQ9	OMIM:614654
HP:0000252	Microcephaly	27429	HTRA2	OMIM:617248
HP:0000252	Microcephaly	3329	HSPD1	OMIM:612233
HP:0000252	Microcephaly	55770	EXOC2	OMIM:619306
HP:0000252	Microcephaly	2744	GLS	OMIM:618339
HP:0000252	Microcephaly	80347	COASY	OMIM:618266
HP:0000252	Microcephaly	2903	GRIN2A	OMIM:245570
HP:0000252	Microcephaly	2903	GRIN2A	ORPHA:289266
HP:0000252	Microcephaly	8405	SPOP	OMIM:618828
HP:0000252	Microcephaly	51124	IER3IP1	OMIM:614231
HP:0000252	Microcephaly	9918	NCAPD2	OMIM:617983
HP:0000252	Microcephaly	27185	DISC1	ORPHA:171703
HP:0000252	Microcephaly	8320	EOMES	ORPHA:171703
HP:0000252	Microcephaly	1984	EIF5A	OMIM:619376
HP:0000252	Microcephaly	23511	NUP188	OMIM:618804
HP:0000252	Microcephaly	10015	PDCD6IP	OMIM:620047
HP:0000252	Microcephaly	8604	SLC25A12	OMIM:612949
HP:0000252	Microcephaly	6045	RNF2	OMIM:619460
HP:0000252	Microcephaly	84823	LMNB2	OMIM:619180
HP:0000252	Microcephaly	55697	VAC14	ORPHA:3472
HP:0000252	Microcephaly	79023	NUP37	OMIM:618179
HP:0000252	Microcephaly	4905	NSF	OMIM:619340
HP:0000252	Microcephaly	5283	PIGH	OMIM:618010
HP:0000252	Microcephaly	9181	ARHGEF2	OMIM:617523
HP:0005487	Prominent metopic ridge	3192	HNRNPU	ORPHA:238769
HP:0005487	Prominent metopic ridge	158	ADSL	OMIM:103050
HP:0005487	Prominent metopic ridge	158	ADSL	ORPHA:46
HP:0005487	Prominent metopic ridge	5518	PPP2R1A	OMIM:616362
HP:0005487	Prominent metopic ridge	5518	PPP2R1A	ORPHA:457284
HP:0005487	Prominent metopic ridge	6309	SC5D	ORPHA:46059
HP:0005487	Prominent metopic ridge	104	ADARB1	OMIM:618862
HP:0005487	Prominent metopic ridge	2290	FOXG1	ORPHA:261144
HP:0005487	Prominent metopic ridge	1182	CLCN3	OMIM:619512
HP:0005487	Prominent metopic ridge	3590	IL11RA	OMIM:614188
HP:0005487	Prominent metopic ridge	56006	SMG9	OMIM:616920
HP:0005487	Prominent metopic ridge	10765	KDM5B	OMIM:618109
HP:0005487	Prominent metopic ridge	100151683	RNU4ATAC	OMIM:210710
HP:0005487	Prominent metopic ridge	25914	RTTN	ORPHA:468631
HP:0005487	Prominent metopic ridge	84570	COL25A1	ORPHA:91411
HP:0005487	Prominent metopic ridge	79776	ZFHX4	ORPHA:91411
HP:0005487	Prominent metopic ridge	3190	HNRNPK	ORPHA:453504
HP:0005487	Prominent metopic ridge	3190	HNRNPK	OMIM:616580
HP:0005487	Prominent metopic ridge	3190	HNRNPK	ORPHA:352665
HP:0005487	Prominent metopic ridge	79796	ALG9	ORPHA:79328
HP:0005487	Prominent metopic ridge	10847	SRCAP	OMIM:136140
HP:0005487	Prominent metopic ridge	4094	MAF	ORPHA:1272
HP:0005487	Prominent metopic ridge	3021	H3-3B	OMIM:619721
HP:0005487	Prominent metopic ridge	5594	MAPK1	OMIM:619087
HP:0005487	Prominent metopic ridge	23030	KDM4B	OMIM:619320
HP:0005487	Prominent metopic ridge	4010	LMX1B	ORPHA:495818
HP:0005487	Prominent metopic ridge	6812	STXBP1	ORPHA:495818
HP:0005487	Prominent metopic ridge	7291	TWIST1	OMIM:617746
HP:0005487	Prominent metopic ridge	55780	ERMARD	ORPHA:75857
HP:0005487	Prominent metopic ridge	471	ATIC	OMIM:608688
HP:0005487	Prominent metopic ridge	3767	KCNJ11	ORPHA:79134
HP:0005487	Prominent metopic ridge	3767	KCNJ11	ORPHA:99885
HP:0005487	Prominent metopic ridge	3767	KCNJ11	OMIM:618856
HP:0005487	Prominent metopic ridge	79731	NARS2	ORPHA:79134
HP:0005487	Prominent metopic ridge	6833	ABCC8	ORPHA:79134
HP:0005487	Prominent metopic ridge	6833	ABCC8	ORPHA:99885
HP:0005487	Prominent metopic ridge	6774	STAT3	ORPHA:99885
HP:0005487	Prominent metopic ridge	2645	GCK	ORPHA:99885
HP:0005487	Prominent metopic ridge	3651	PDX1	ORPHA:99885
HP:0005487	Prominent metopic ridge	3630	INS	ORPHA:99885
HP:0005487	Prominent metopic ridge	4131	MAP1B	OMIM:618918
HP:0005487	Prominent metopic ridge	79158	GNPTAB	ORPHA:576
HP:0005487	Prominent metopic ridge	1028	CDKN1C	OMIM:130650
HP:0005487	Prominent metopic ridge	10984	KCNQ1OT1	OMIM:130650
HP:0005487	Prominent metopic ridge	3481	IGF2	OMIM:130650
HP:0005487	Prominent metopic ridge	3784	KCNQ1	OMIM:130650
HP:0005487	Prominent metopic ridge	8260	NAA10	OMIM:300855
HP:0005487	Prominent metopic ridge	2068	ERCC2	ORPHA:1466
HP:0005487	Prominent metopic ridge	2067	ERCC1	ORPHA:1466
HP:0005487	Prominent metopic ridge	2074	ERCC6	ORPHA:1466
HP:0005487	Prominent metopic ridge	2073	ERCC5	ORPHA:1466
HP:0005487	Prominent metopic ridge	23511	NUP188	OMIM:618804
HP:0005487	Prominent metopic ridge	284058	KANSL1	OMIM:610443
HP:0005487	Prominent metopic ridge	84081	NSRP1	OMIM:620001
HP:0005487	Prominent metopic ridge	71	ACTG1	ORPHA:2995
HP:0005487	Prominent metopic ridge	60	ACTB	ORPHA:2995
HP:0005487	Prominent metopic ridge	23116	TOGARAM1	OMIM:619185
HP:0005487	Prominent metopic ridge	171023	ASXL1	ORPHA:97297
HP:0005487	Prominent metopic ridge	171023	ASXL1	OMIM:605039
HP:0005487	Prominent metopic ridge	9742	IFT140	OMIM:266920
HP:0005487	Prominent metopic ridge	23036	ZNF292	OMIM:619188
HP:0005487	Prominent metopic ridge	2702	GJA5	OMIM:612474
HP:0005487	Prominent metopic ridge	2703	GJA8	OMIM:612474
HP:0005487	Prominent metopic ridge	92949	ADAMTSL1	ORPHA:521445
HP:0005487	Prominent metopic ridge	4854	NOTCH3	ORPHA:2789
HP:0005487	Prominent metopic ridge	4281	MID1	ORPHA:2745
HP:0005487	Prominent metopic ridge	93627	TBCK	ORPHA:488632
HP:0005487	Prominent metopic ridge	6602	SMARCD1	OMIM:618779
HP:0005487	Prominent metopic ridge	27152	INTU	OMIM:617926
HP:0005487	Prominent metopic ridge	58499	ZNF462	OMIM:618619
HP:0005487	Prominent metopic ridge	990	CDC6	OMIM:613805
HP:0005487	Prominent metopic ridge	5813	PURA	ORPHA:314655
HP:0005484	Secondary microcephaly	91949	COG7	OMIM:608779
HP:0005484	Secondary microcephaly	91949	COG7	ORPHA:79333
HP:0005484	Secondary microcephaly	4204	MECP2	OMIM:300673
HP:0005484	Secondary microcephaly	4204	MECP2	ORPHA:778
HP:0005484	Secondary microcephaly	6792	CDKL5	OMIM:300672
HP:0005484	Secondary microcephaly	1267	CNP	OMIM:619071
HP:0005484	Secondary microcephaly	10617	STAMBP	OMIM:614261
HP:0005484	Secondary microcephaly	91452	ACBD5	OMIM:618863
HP:0005484	Secondary microcephaly	84879	MFSD2A	OMIM:616486
HP:0005484	Secondary microcephaly	7737	RNF113A	OMIM:300953
HP:0005484	Secondary microcephaly	51660	MPC1	OMIM:614741
HP:0005484	Secondary microcephaly	1161	ERCC8	ORPHA:90324
HP:0005484	Secondary microcephaly	2074	ERCC6	ORPHA:90324
HP:0005484	Secondary microcephaly	10564	ARFGEF2	OMIM:608097
HP:0005484	Secondary microcephaly	2290	FOXG1	OMIM:613454
HP:0005484	Secondary microcephaly	8573	CASK	OMIM:300749
HP:0005484	Secondary microcephaly	4719	NDUFS1	OMIM:618226
HP:0005484	Secondary microcephaly	55627	SMPD4	OMIM:618622
HP:0005484	Secondary microcephaly	8818	DPM2	ORPHA:329178
HP:0005484	Secondary microcephaly	11340	EXOSC8	ORPHA:2254
HP:0005484	Secondary microcephaly	5393	EXOSC9	ORPHA:2254
HP:0005484	Secondary microcephaly	23287	AGTPBP1	ORPHA:2254
HP:0005484	Secondary microcephaly	51010	EXOSC3	ORPHA:2254
HP:0005484	Secondary microcephaly	51010	EXOSC3	OMIM:614678
HP:0005484	Secondary microcephaly	7443	VRK1	ORPHA:2254
HP:0005484	Secondary microcephaly	91137	SLC25A46	ORPHA:2254
HP:0005484	Secondary microcephaly	51091	SEPSECS	OMIM:613811
HP:0005484	Secondary microcephaly	51091	SEPSECS	ORPHA:2524
HP:0005484	Secondary microcephaly	22845	DOLK	ORPHA:91131
HP:0005484	Secondary microcephaly	132158	GLYCTK	ORPHA:941
HP:0005484	Secondary microcephaly	56052	ALG1	ORPHA:79327
HP:0005484	Secondary microcephaly	79796	ALG9	ORPHA:79328
HP:0005484	Secondary microcephaly	4247	MGAT2	ORPHA:79329
HP:0005484	Secondary microcephaly	11277	TREX1	OMIM:225750
HP:0005484	Secondary microcephaly	8318	CDC45	OMIM:617063
HP:0005484	Secondary microcephaly	122553	TRAPPC6B	OMIM:617862
HP:0005484	Secondary microcephaly	5859	QARS1	OMIM:615760
HP:0005484	Secondary microcephaly	116461	TSEN15	OMIM:617026
HP:0005484	Secondary microcephaly	116461	TSEN15	ORPHA:2524
HP:0005484	Secondary microcephaly	9326	ZNHIT3	OMIM:260565
HP:0005484	Secondary microcephaly	51741	WWOX	OMIM:616211
HP:0005484	Secondary microcephaly	283989	TSEN54	ORPHA:2524
HP:0005484	Secondary microcephaly	283989	TSEN54	OMIM:277470
HP:0005484	Secondary microcephaly	79042	TSEN34	ORPHA:2524
HP:0005484	Secondary microcephaly	80746	TSEN2	ORPHA:2524
HP:0005484	Secondary microcephaly	80746	TSEN2	OMIM:612389
HP:0005484	Secondary microcephaly	57688	ZSWIM6	OMIM:617865
HP:0005484	Secondary microcephaly	2137	EXTL3	OMIM:617425
HP:0005484	Secondary microcephaly	4190	MDH1	OMIM:618959
HP:0005484	Secondary microcephaly	55704	CCDC88A	OMIM:617507
HP:0005484	Secondary microcephaly	998	CDC42	OMIM:616737
HP:0005484	Secondary microcephaly	6334	SCN8A	OMIM:614558
HP:0005484	Secondary microcephaly	50	ACO2	OMIM:614559
HP:0005484	Secondary microcephaly	84197	POMK	OMIM:615249
HP:0005484	Secondary microcephaly	57038	RARS2	OMIM:611523
HP:0005484	Secondary microcephaly	6509	SLC1A4	OMIM:616657
HP:0005484	Secondary microcephaly	10978	CLP1	OMIM:615803
HP:0005484	Secondary microcephaly	54862	CC2D1A	OMIM:608443
HP:0005484	Secondary microcephaly	9382	COG1	OMIM:611209
HP:0005484	Secondary microcephaly	9382	COG1	ORPHA:263508
HP:0005484	Secondary microcephaly	2891	GRIA2	OMIM:618917
HP:0005484	Secondary microcephaly	23065	EMC1	ORPHA:480898
HP:0005484	Secondary microcephaly	63908	NAPB	OMIM:620033
HP:0005484	Secondary microcephaly	9342	SNAP29	OMIM:609528
HP:0005484	Secondary microcephaly	51651	PTRH2	OMIM:616263
HP:0005484	Secondary microcephaly	23545	ATP6V0A2	ORPHA:357074
HP:0005484	Secondary microcephaly	23545	ATP6V0A2	ORPHA:2834
HP:0005484	Secondary microcephaly	23545	ATP6V0A2	OMIM:278250
HP:0005484	Secondary microcephaly	523	ATP6V1A	ORPHA:357074
HP:0005484	Secondary microcephaly	529	ATP6V1E1	ORPHA:357074
HP:0005484	Secondary microcephaly	440	ASNS	OMIM:615574
HP:0005484	Secondary microcephaly	5538	PPT1	OMIM:256730
HP:0005484	Secondary microcephaly	6709	SPTAN1	OMIM:613477
HP:0005484	Secondary microcephaly	55275	VPS53	OMIM:615851
HP:0005484	Secondary microcephaly	203190	LGI3	OMIM:620007
HP:0005484	Secondary microcephaly	2806	GOT2	OMIM:618721
HP:0005484	Secondary microcephaly	51294	PCDH12	OMIM:251280
HP:0005484	Secondary microcephaly	29920	PYCR2	ORPHA:481152
HP:0005484	Secondary microcephaly	114034	TOE1	OMIM:614969
HP:0005484	Secondary microcephaly	5048	PAFAH1B1	ORPHA:95232
HP:0005484	Secondary microcephaly	3913	LAMB2	OMIM:609049
HP:0005484	Secondary microcephaly	84153	RNASEH2C	OMIM:610329
HP:0005484	Secondary microcephaly	83480	PUS3	ORPHA:488627
HP:0005484	Secondary microcephaly	79087	ALG12	ORPHA:79324
HP:0005484	Secondary microcephaly	79087	ALG12	OMIM:607143
HP:0005484	Secondary microcephaly	2801	GOLGA2	OMIM:620240
HP:0005484	Secondary microcephaly	23096	IQSEC2	ORPHA:397933
HP:0005484	Secondary microcephaly	55163	PNPO	OMIM:610090
HP:0005484	Secondary microcephaly	84188	FAR1	ORPHA:438178
HP:0005484	Secondary microcephaly	10844	TUBGCP2	OMIM:618737
HP:0005484	Secondary microcephaly	221927	BRAT1	OMIM:614498
HP:0005484	Secondary microcephaly	84342	COG8	ORPHA:95428
HP:0005484	Secondary microcephaly	11284	PNKP	OMIM:613402
HP:0005484	Secondary microcephaly	10535	RNASEH2A	OMIM:610333
HP:0005484	Secondary microcephaly	7407	VARS1	OMIM:617802
HP:0005484	Secondary microcephaly	9373	PLAA	OMIM:617527
HP:0005484	Secondary microcephaly	27445	PCLO	OMIM:608027
HP:0005484	Secondary microcephaly	9343	EFTUD2	OMIM:610536
HP:0005484	Secondary microcephaly	23516	SLC39A14	ORPHA:521406
HP:0005484	Secondary microcephaly	6513	SLC2A1	ORPHA:71277
HP:0005484	Secondary microcephaly	1967	EIF2B1	OMIM:603896
HP:0005484	Secondary microcephaly	7337	UBE3A	ORPHA:98794
HP:0005484	Secondary microcephaly	7337	UBE3A	ORPHA:98795
HP:0005484	Secondary microcephaly	7337	UBE3A	ORPHA:411511
HP:0005484	Secondary microcephaly	7337	UBE3A	ORPHA:411515
HP:0005484	Secondary microcephaly	4948	OCA2	ORPHA:98794
HP:0005484	Secondary microcephaly	6638	SNRPN	ORPHA:411515
HP:0005484	Secondary microcephaly	57194	ATP10A	ORPHA:411515
HP:0005484	Secondary microcephaly	6323	SCN1A	OMIM:607208
HP:0005484	Secondary microcephaly	84706	GPT2	OMIM:616281
HP:0005484	Secondary microcephaly	3376	IARS1	OMIM:617093
HP:0005484	Secondary microcephaly	79876	UBA5	OMIM:617132
HP:0005484	Secondary microcephaly	340533	NEXMIF	OMIM:300912
HP:0005484	Secondary microcephaly	9853	RUSC2	OMIM:617773
HP:0005484	Secondary microcephaly	55823	VPS11	OMIM:616683
HP:0005484	Secondary microcephaly	6873	TAF2	OMIM:615599
HP:0005484	Secondary microcephaly	6873	TAF2	ORPHA:397951
HP:0005484	Secondary microcephaly	83700	JAM3	OMIM:613730
HP:0005484	Secondary microcephaly	53616	ADAM22	OMIM:617933
HP:0005484	Secondary microcephaly	81570	CLPB	OMIM:619835
HP:0005484	Secondary microcephaly	84942	WDR73	OMIM:251300
HP:0005484	Secondary microcephaly	6571	SLC18A2	ORPHA:352649
HP:0005484	Secondary microcephaly	22854	NTNG1	ORPHA:3095
HP:0005484	Secondary microcephaly	9568	GABBR2	ORPHA:3095
HP:0005484	Secondary microcephaly	8243	SMC1A	ORPHA:3095
HP:0005484	Secondary microcephaly	51112	TRAPPC12	ORPHA:500144
HP:0005484	Secondary microcephaly	55610	VPS50	OMIM:619685
HP:0005484	Secondary microcephaly	1387	CREBBP	ORPHA:353281
HP:0005484	Secondary microcephaly	1387	CREBBP	ORPHA:353277
HP:0005484	Secondary microcephaly	57511	COG6	ORPHA:363523
HP:0005484	Secondary microcephaly	126328	NDUFA11	OMIM:618236
HP:0005484	Secondary microcephaly	51506	UFC1	OMIM:618076
HP:0005484	Secondary microcephaly	6392	SDHD	OMIM:619167
HP:0005484	Secondary microcephaly	477	ATP1A2	OMIM:619605
HP:0005484	Secondary microcephaly	29968	PSAT1	OMIM:610992
HP:0005484	Secondary microcephaly	2033	EP300	ORPHA:353284
HP:0005484	Secondary microcephaly	84520	GON7	OMIM:619603
HP:0005484	Secondary microcephaly	9915	ARNT2	OMIM:615926
HP:0005484	Secondary microcephaly	2561	GABRB2	OMIM:617829
HP:0005484	Secondary microcephaly	55768	NGLY1	ORPHA:404454
HP:0005484	Secondary microcephaly	271	AMPD2	OMIM:615809
HP:0005484	Secondary microcephaly	79693	YRDC	OMIM:619609
HP:0005484	Secondary microcephaly	9126	SMC3	OMIM:610759
HP:0005484	Secondary microcephaly	79068	FTO	OMIM:612938
HP:0005484	Secondary microcephaly	6904	TBCD	ORPHA:496641
HP:0005484	Secondary microcephaly	6904	TBCD	OMIM:617193
HP:0005484	Secondary microcephaly	55777	MBD5	OMIM:156200
HP:0005484	Secondary microcephaly	83696	TRAPPC9	OMIM:613192
HP:0005484	Secondary microcephaly	22796	COG2	OMIM:617395
HP:0005484	Secondary microcephaly	22796	COG2	ORPHA:435934
HP:0005484	Secondary microcephaly	112939	NACC1	OMIM:617393
HP:0005484	Secondary microcephaly	55572	FOXRED1	OMIM:618241
HP:0005484	Secondary microcephaly	7343	UBTF	OMIM:617672
HP:0005484	Secondary microcephaly	9512	PMPCB	OMIM:617954
HP:0005484	Secondary microcephaly	5119	CHMP1A	OMIM:614961
HP:0005484	Secondary microcephaly	9692	PRORP	OMIM:619737
HP:0005484	Secondary microcephaly	4915	NTRK2	OMIM:617830
HP:0005484	Secondary microcephaly	8560	DEGS1	OMIM:618404
HP:0005484	Secondary microcephaly	55858	TMEM165	OMIM:614727
HP:0005484	Secondary microcephaly	54675	CRLS1	OMIM:620167
HP:0005484	Secondary microcephaly	8604	SLC25A12	OMIM:612949
HP:0005484	Secondary microcephaly	22827	PUF60	ORPHA:508488
HP:0005484	Secondary microcephaly	9839	ZEB2	ORPHA:261552
HP:0005484	Secondary microcephaly	9839	ZEB2	ORPHA:261537
HP:0005484	Secondary microcephaly	10087	CERT1	OMIM:616351
HP:0005484	Secondary microcephaly	774	CACNA1B	OMIM:618497
HP:0005484	Secondary microcephaly	22884	WDR37	OMIM:618652
HP:0005484	Secondary microcephaly	5277	PIGA	OMIM:300868
HP:0005484	Secondary microcephaly	2903	GRIN2A	ORPHA:289266
HP:0005484	Secondary microcephaly	3188	HNRNPH2	OMIM:300986
HP:0005484	Secondary microcephaly	2257	FGF12	OMIM:617166
HP:0005484	Secondary microcephaly	1641	DCX	ORPHA:2148
HP:0005484	Secondary microcephaly	128637	TBC1D20	OMIM:615663
HP:0005484	Secondary microcephaly	6304	SATB1	OMIM:619229
HP:0005484	Secondary microcephaly	11212	PLPBP	OMIM:617290
HP:0005484	Secondary microcephaly	339983	NAT8L	OMIM:614063
HP:0005484	Secondary microcephaly	71	ACTG1	OMIM:614583
HP:0005484	Secondary microcephaly	51501	HIKESHI	OMIM:616881
HP:0005484	Secondary microcephaly	57468	SLC12A5	OMIM:616645
HP:0005484	Secondary microcephaly	1213	CLTC	OMIM:617854
HP:0005484	Secondary microcephaly	25782	RAB3GAP2	OMIM:614225
HP:0005484	Secondary microcephaly	22931	RAB18	OMIM:614222
HP:0005484	Secondary microcephaly	64857	PLEKHG2	OMIM:616763
HP:0005484	Secondary microcephaly	4659	PPP1R12A	OMIM:618820
HP:0005484	Secondary microcephaly	79751	SLC25A22	OMIM:609304
HP:0005484	Secondary microcephaly	1917	EEF1A2	OMIM:616409
HP:0005484	Secondary microcephaly	10236	HNRNPR	OMIM:620073
HP:0005484	Secondary microcephaly	3800	KIF5C	OMIM:615282
HP:0005484	Secondary microcephaly	7204	TRIO	ORPHA:476126
HP:0005484	Secondary microcephaly	56947	MFF	ORPHA:485421
HP:0005484	Secondary microcephaly	56947	MFF	OMIM:617086
HP:0005484	Secondary microcephaly	539	ATP5PO	OMIM:620359
HP:0005484	Secondary microcephaly	9440	MED17	OMIM:613668
HP:0005484	Secondary microcephaly	25973	PARS2	OMIM:618437
HP:0005484	Secondary microcephaly	2558	GABRA5	OMIM:618559
HP:0005484	Secondary microcephaly	118924	FRA10AC1	OMIM:620113
HP:0005484	Secondary microcephaly	6925	TCF4	OMIM:610954
HP:0005484	Secondary microcephaly	1759	DNM1	OMIM:620352
HP:0005484	Secondary microcephaly	8813	DPM1	OMIM:608799
HP:0005484	Secondary microcephaly	8813	DPM1	ORPHA:79322
HP:0005484	Secondary microcephaly	125988	MICOS13	OMIM:618329
HP:0005484	Secondary microcephaly	57465	TBC1D24	OMIM:615338
HP:0005484	Secondary microcephaly	1719	DHFR	OMIM:613839
HP:0005484	Secondary microcephaly	10079	ATP9A	OMIM:620242
HP:0005484	Secondary microcephaly	205327	C2orf69	OMIM:619423
HP:0005484	Secondary microcephaly	1496	CTNNA2	OMIM:618174
HP:0005484	Secondary microcephaly	79587	CARS2	OMIM:616672
HP:0005484	Secondary microcephaly	51693	TRAPPC2L	OMIM:618331
HP:0005484	Secondary microcephaly	57017	COQ9	OMIM:614654
HP:0005484	Secondary microcephaly	27429	HTRA2	OMIM:617248
HP:0005484	Secondary microcephaly	3329	HSPD1	OMIM:612233
HP:0005484	Secondary microcephaly	55770	EXOC2	OMIM:619306
HP:0005484	Secondary microcephaly	2744	GLS	OMIM:618339
HP:0005483	Abnormal epiglottis morphology	341640	FREM2	OMIM:617666
HP:0005483	Abnormal epiglottis morphology	22858	CILK1	OMIM:612651
HP:0005483	Abnormal epiglottis morphology	5396	PRRX1	OMIM:202650
HP:0005483	Abnormal epiglottis morphology	2263	FGFR2	ORPHA:2363
HP:0005483	Abnormal epiglottis morphology	2261	FGFR3	ORPHA:2363
HP:0005483	Abnormal epiglottis morphology	2255	FGF10	ORPHA:2363
HP:0005483	Abnormal epiglottis morphology	10262	SF3B4	OMIM:154400
HP:0005483	Abnormal epiglottis morphology	4750	NEK1	ORPHA:2751
HP:0005483	Abnormal epiglottis morphology	4750	NEK1	OMIM:263520
HP:0005483	Abnormal epiglottis morphology	26040	SETBP1	ORPHA:798
HP:0005483	Abnormal epiglottis morphology	427	ASAH1	ORPHA:333
HP:0005483	Abnormal epiglottis morphology	3852	KRT5	ORPHA:79396
HP:0005483	Abnormal epiglottis morphology	3861	KRT14	ORPHA:79396
HP:0005483	Abnormal epiglottis morphology	710	SERPING1	ORPHA:100050
HP:0005483	Abnormal epiglottis morphology	26005	C2CD3	OMIM:615948
HP:0005483	Abnormal epiglottis morphology	26005	C2CD3	ORPHA:434179
HP:0005483	Abnormal epiglottis morphology	51626	DYNC2LI1	OMIM:617088
HP:0005483	Abnormal epiglottis morphology	9775	EIF4A3	OMIM:268305
HP:0005483	Abnormal epiglottis morphology	2737	GLI3	ORPHA:672
HP:0005483	Abnormal epiglottis morphology	2737	GLI3	OMIM:146510
HP:0005483	Abnormal epiglottis morphology	55112	DYNC2I1	ORPHA:93271
HP:0005483	Abnormal epiglottis morphology	57560	IFT80	ORPHA:93271
HP:0005483	Abnormal epiglottis morphology	57539	WDR35	ORPHA:93271
HP:0005483	Abnormal epiglottis morphology	79659	DYNC2H1	ORPHA:93271
HP:0005483	Abnormal epiglottis morphology	89891	DYNC2I2	ORPHA:93271
HP:0005483	Abnormal epiglottis morphology	2304	FOXE1	OMIM:241850
HP:0005482	Abnormality of the alternative complement pathway	3075	CFH	OMIM:609814
HP:0005482	Abnormality of the alternative complement pathway	5199	CFP	OMIM:312060
HP:0031348	Dextrotransposition of the great arteries	7547	ZIC3	OMIM:306955
HP:0031348	Dextrotransposition of the great arteries	93	ACVR2B	OMIM:613751
HP:0031348	Dextrotransposition of the great arteries	4087	SMAD2	OMIM:619657
HP:0031348	Dextrotransposition of the great arteries	100128908	CIROP	OMIM:619702
HP:0031348	Dextrotransposition of the great arteries	56006	SMG9	OMIM:619995
HP:0031348	Dextrotransposition of the great arteries	4838	NODAL	OMIM:270100
HP:0031348	Dextrotransposition of the great arteries	58499	ZNF462	OMIM:618619
HP:0005498	Midline skin dimples over anterior/posterior fontanelles	197131	UBR1	OMIM:243800
HP:0000256	Macrocephaly	51256	TBC1D7	OMIM:248000
HP:0000256	Macrocephaly	1139	CHRNA7	ORPHA:199318
HP:0000256	Macrocephaly	2132	EXT2	OMIM:616682
HP:0000256	Macrocephaly	2132	EXT2	ORPHA:466926
HP:0000256	Macrocephaly	3008	H1-4	OMIM:617537
HP:0000256	Macrocephaly	91801	ALKBH8	OMIM:618504
HP:0000256	Macrocephaly	3703	STT3A	OMIM:619714
HP:0000256	Macrocephaly	2261	FGFR3	ORPHA:53271
HP:0000256	Macrocephaly	2261	FGFR3	OMIM:146000
HP:0000256	Macrocephaly	2261	FGFR3	ORPHA:1860
HP:0000256	Macrocephaly	2261	FGFR3	OMIM:616482
HP:0000256	Macrocephaly	2261	FGFR3	ORPHA:429
HP:0000256	Macrocephaly	2261	FGFR3	ORPHA:15
HP:0000256	Macrocephaly	2261	FGFR3	OMIM:602849
HP:0000256	Macrocephaly	2261	FGFR3	ORPHA:93274
HP:0000256	Macrocephaly	2261	FGFR3	OMIM:100800
HP:0000256	Macrocephaly	2261	FGFR3	OMIM:187600
HP:0000256	Macrocephaly	1788	DNMT3A	ORPHA:404443
HP:0000256	Macrocephaly	1788	DNMT3A	OMIM:615879
HP:0000256	Macrocephaly	5457	POU4F1	ORPHA:314647
HP:0000256	Macrocephaly	23261	CAMTA1	ORPHA:314647
HP:0000256	Macrocephaly	23261	CAMTA1	OMIM:614756
HP:0000256	Macrocephaly	4125	MAN2B1	ORPHA:309282
HP:0000256	Macrocephaly	4125	MAN2B1	OMIM:248500
HP:0000256	Macrocephaly	9578	CDC42BPB	OMIM:619841
HP:0000256	Macrocephaly	3020	H3-3A	OMIM:619720
HP:0000256	Macrocephaly	2737	GLI3	ORPHA:380
HP:0000256	Macrocephaly	2737	GLI3	ORPHA:672
HP:0000256	Macrocephaly	2737	GLI3	ORPHA:36
HP:0000256	Macrocephaly	2737	GLI3	OMIM:175700
HP:0000256	Macrocephaly	3021	H3-3B	OMIM:619721
HP:0000256	Macrocephaly	1855	DVL1	OMIM:616331
HP:0000256	Macrocephaly	1855	DVL1	OMIM:180700
HP:0000256	Macrocephaly	1855	DVL1	ORPHA:3107
HP:0000256	Macrocephaly	55790	CSGALNACT1	OMIM:618870
HP:0000256	Macrocephaly	51111	KMT5B	OMIM:617788
HP:0000256	Macrocephaly	79639	TMEM53	OMIM:619727
HP:0000256	Macrocephaly	10730	YME1L1	OMIM:617302
HP:0000256	Macrocephaly	55904	KMT2E	OMIM:618512
HP:0000256	Macrocephaly	129563	DIS3L2	ORPHA:2849
HP:0000256	Macrocephaly	3764	KCNJ8	ORPHA:1517
HP:0000256	Macrocephaly	10060	ABCC9	ORPHA:1517
HP:0000256	Macrocephaly	10060	ABCC9	OMIM:239850
HP:0000256	Macrocephaly	5189	PEX1	OMIM:214100
HP:0000256	Macrocephaly	5189	PEX1	ORPHA:44
HP:0000256	Macrocephaly	5189	PEX1	ORPHA:912
HP:0000256	Macrocephaly	50964	SOST	ORPHA:1513
HP:0000256	Macrocephaly	50964	SOST	OMIM:122860
HP:0000256	Macrocephaly	317662	FAM149B1	OMIM:618763
HP:0000256	Macrocephaly	818	CAMK2G	OMIM:618522
HP:0000256	Macrocephaly	284058	KANSL1	ORPHA:363958
HP:0000256	Macrocephaly	284058	KANSL1	ORPHA:363965
HP:0000256	Macrocephaly	55870	ASH1L	OMIM:617796
HP:0000256	Macrocephaly	54453	RIN2	OMIM:613075
HP:0000256	Macrocephaly	815	CAMK2A	OMIM:617798
HP:0000256	Macrocephaly	3423	IDS	ORPHA:217085
HP:0000256	Macrocephaly	3423	IDS	OMIM:309900
HP:0000256	Macrocephaly	3423	IDS	ORPHA:217093
HP:0000256	Macrocephaly	56172	ANKH	OMIM:123000
HP:0000256	Macrocephaly	10381	TUBB3	ORPHA:300570
HP:0000256	Macrocephaly	10381	TUBB3	ORPHA:467166
HP:0000256	Macrocephaly	1183	CLCN4	ORPHA:485350
HP:0000256	Macrocephaly	84100	ARL6	OMIM:209900
HP:0000256	Macrocephaly	79140	CCDC28B	OMIM:209900
HP:0000256	Macrocephaly	582	BBS1	OMIM:209900
HP:0000256	Macrocephaly	55109	AGGF1	ORPHA:90308
HP:0000256	Macrocephaly	4920	ROR2	ORPHA:1507
HP:0000256	Macrocephaly	4920	ROR2	OMIM:268310
HP:0000256	Macrocephaly	10484	SEC23A	OMIM:607812
HP:0000256	Macrocephaly	1105	CHD1	OMIM:617682
HP:0000256	Macrocephaly	1105	CHD1	ORPHA:529965
HP:0000256	Macrocephaly	8726	EED	OMIM:617561
HP:0000256	Macrocephaly	8726	EED	ORPHA:3447
HP:0000256	Macrocephaly	5528	PPP2R5D	OMIM:616355
HP:0000256	Macrocephaly	5528	PPP2R5D	ORPHA:457279
HP:0000256	Macrocephaly	93627	TBCK	ORPHA:488632
HP:0000256	Macrocephaly	93627	TBCK	OMIM:616900
HP:0000256	Macrocephaly	28514	DLL1	ORPHA:93926
HP:0000256	Macrocephaly	28514	DLL1	ORPHA:93924
HP:0000256	Macrocephaly	28514	DLL1	ORPHA:93925
HP:0000256	Macrocephaly	28514	DLL1	OMIM:618709
HP:0000256	Macrocephaly	28514	DLL1	ORPHA:220386
HP:0000256	Macrocephaly	2253	FGF8	ORPHA:93926
HP:0000256	Macrocephaly	2253	FGF8	ORPHA:93924
HP:0000256	Macrocephaly	2253	FGF8	ORPHA:93925
HP:0000256	Macrocephaly	2253	FGF8	ORPHA:220386
HP:0000256	Macrocephaly	6496	SIX3	ORPHA:93926
HP:0000256	Macrocephaly	6496	SIX3	ORPHA:93924
HP:0000256	Macrocephaly	6496	SIX3	ORPHA:93925
HP:0000256	Macrocephaly	6496	SIX3	ORPHA:220386
HP:0000256	Macrocephaly	7050	TGIF1	ORPHA:93926
HP:0000256	Macrocephaly	7050	TGIF1	ORPHA:93924
HP:0000256	Macrocephaly	7050	TGIF1	ORPHA:93925
HP:0000256	Macrocephaly	7050	TGIF1	ORPHA:220386
HP:0000256	Macrocephaly	4838	NODAL	ORPHA:93926
HP:0000256	Macrocephaly	4838	NODAL	ORPHA:93924
HP:0000256	Macrocephaly	4838	NODAL	ORPHA:93925
HP:0000256	Macrocephaly	4838	NODAL	ORPHA:220386
HP:0000256	Macrocephaly	6469	SHH	ORPHA:93926
HP:0000256	Macrocephaly	6469	SHH	ORPHA:93924
HP:0000256	Macrocephaly	6469	SHH	ORPHA:93925
HP:0000256	Macrocephaly	6469	SHH	ORPHA:220386
HP:0000256	Macrocephaly	7546	ZIC2	ORPHA:93926
HP:0000256	Macrocephaly	7546	ZIC2	ORPHA:93924
HP:0000256	Macrocephaly	7546	ZIC2	ORPHA:93925
HP:0000256	Macrocephaly	7546	ZIC2	ORPHA:220386
HP:0000256	Macrocephaly	6491	STIL	ORPHA:93926
HP:0000256	Macrocephaly	6491	STIL	ORPHA:93924
HP:0000256	Macrocephaly	6491	STIL	ORPHA:93925
HP:0000256	Macrocephaly	6491	STIL	ORPHA:220386
HP:0000256	Macrocephaly	2619	GAS1	ORPHA:93926
HP:0000256	Macrocephaly	2619	GAS1	ORPHA:93924
HP:0000256	Macrocephaly	2619	GAS1	ORPHA:93925
HP:0000256	Macrocephaly	2619	GAS1	ORPHA:220386
HP:0000256	Macrocephaly	84976	DISP1	ORPHA:93926
HP:0000256	Macrocephaly	84976	DISP1	ORPHA:93924
HP:0000256	Macrocephaly	84976	DISP1	ORPHA:93925
HP:0000256	Macrocephaly	84976	DISP1	ORPHA:220386
HP:0000256	Macrocephaly	2736	GLI2	ORPHA:93926
HP:0000256	Macrocephaly	2736	GLI2	ORPHA:93924
HP:0000256	Macrocephaly	2736	GLI2	ORPHA:93925
HP:0000256	Macrocephaly	2736	GLI2	ORPHA:220386
HP:0000256	Macrocephaly	8928	FOXH1	ORPHA:93926
HP:0000256	Macrocephaly	8928	FOXH1	ORPHA:93924
HP:0000256	Macrocephaly	8928	FOXH1	ORPHA:93925
HP:0000256	Macrocephaly	8928	FOXH1	ORPHA:220386
HP:0000256	Macrocephaly	5727	PTCH1	ORPHA:93926
HP:0000256	Macrocephaly	5727	PTCH1	ORPHA:93924
HP:0000256	Macrocephaly	5727	PTCH1	ORPHA:93925
HP:0000256	Macrocephaly	5727	PTCH1	OMIM:610828
HP:0000256	Macrocephaly	5727	PTCH1	OMIM:109400
HP:0000256	Macrocephaly	5727	PTCH1	ORPHA:77301
HP:0000256	Macrocephaly	5727	PTCH1	ORPHA:220386
HP:0000256	Macrocephaly	50937	CDON	ORPHA:93926
HP:0000256	Macrocephaly	50937	CDON	ORPHA:93924
HP:0000256	Macrocephaly	50937	CDON	ORPHA:93925
HP:0000256	Macrocephaly	50937	CDON	ORPHA:220386
HP:0000256	Macrocephaly	2783	GNB2	OMIM:619503
HP:0000256	Macrocephaly	2260	FGFR1	ORPHA:93924
HP:0000256	Macrocephaly	2260	FGFR1	ORPHA:2396
HP:0000256	Macrocephaly	2260	FGFR1	ORPHA:220386
HP:0000256	Macrocephaly	26057	ANKRD17	OMIM:619504
HP:0000256	Macrocephaly	23007	PLCH1	ORPHA:93925
HP:0000256	Macrocephaly	23007	PLCH1	OMIM:619895
HP:0000256	Macrocephaly	10735	STAG2	ORPHA:93925
HP:0000256	Macrocephaly	10735	STAG2	ORPHA:220386
HP:0000256	Macrocephaly	4247	MGAT2	OMIM:212066
HP:0000256	Macrocephaly	2773	GNAI3	OMIM:602483
HP:0000256	Macrocephaly	2773	GNAI3	ORPHA:137888
HP:0000256	Macrocephaly	3476	IGBP1	ORPHA:52055
HP:0000256	Macrocephaly	3476	IGBP1	OMIM:300472
HP:0000256	Macrocephaly	11285	B4GALT7	OMIM:130070
HP:0000256	Macrocephaly	11285	B4GALT7	ORPHA:75496
HP:0000256	Macrocephaly	1182	CLCN3	OMIM:619512
HP:0000256	Macrocephaly	23512	SUZ12	OMIM:618786
HP:0000256	Macrocephaly	23512	SUZ12	ORPHA:3447
HP:0000256	Macrocephaly	51604	PIGT	OMIM:615398
HP:0000256	Macrocephaly	57680	CHD8	OMIM:615032
HP:0000256	Macrocephaly	3572	IL6ST	OMIM:619750
HP:0000256	Macrocephaly	100128927	ZBTB42	OMIM:616248
HP:0000256	Macrocephaly	285362	SUMF1	ORPHA:585
HP:0000256	Macrocephaly	26137	ZBTB20	OMIM:259050
HP:0000256	Macrocephaly	27086	FOXP1	ORPHA:391372
HP:0000256	Macrocephaly	27086	FOXP1	OMIM:613670
HP:0000256	Macrocephaly	6942	TCF20	OMIM:618430
HP:0000256	Macrocephaly	9158	FIBP	OMIM:617107
HP:0000256	Macrocephaly	9158	FIBP	ORPHA:500095
HP:0000256	Macrocephaly	8792	TNFRSF11A	ORPHA:2801
HP:0000256	Macrocephaly	8792	TNFRSF11A	ORPHA:1782
HP:0000256	Macrocephaly	2263	FGFR2	ORPHA:168624
HP:0000256	Macrocephaly	200424	TET3	OMIM:618798
HP:0000256	Macrocephaly	9772	TMEM94	OMIM:618316
HP:0000256	Macrocephaly	51341	ZBTB7A	OMIM:619769
HP:0000256	Macrocephaly	4626	MYH8	OMIM:158300
HP:0000256	Macrocephaly	7030	TFE3	OMIM:301066
HP:0000256	Macrocephaly	2239	GPC4	ORPHA:373
HP:0000256	Macrocephaly	2239	GPC4	OMIM:312870
HP:0000256	Macrocephaly	2239	GPC4	OMIM:301026
HP:0000256	Macrocephaly	2239	GPC4	ORPHA:2662
HP:0000256	Macrocephaly	2719	GPC3	ORPHA:373
HP:0000256	Macrocephaly	2719	GPC3	OMIM:312870
HP:0000256	Macrocephaly	4123	MAN2C1	OMIM:619775
HP:0000256	Macrocephaly	54941	RNF125	OMIM:616260
HP:0000256	Macrocephaly	1107	CHD3	OMIM:618205
HP:0000256	Macrocephaly	4488	MSX2	OMIM:168550
HP:0000256	Macrocephaly	4488	MSX2	OMIM:168500
HP:0000256	Macrocephaly	80173	IFT74	OMIM:617119
HP:0000256	Macrocephaly	84295	PHF6	ORPHA:127
HP:0000256	Macrocephaly	1967	EIF2B1	OMIM:603896
HP:0000256	Macrocephaly	1280	COL2A1	ORPHA:485
HP:0000256	Macrocephaly	1280	COL2A1	OMIM:151210
HP:0000256	Macrocephaly	2697	GJA1	OMIM:218400
HP:0000256	Macrocephaly	9896	FIG4	ORPHA:208441
HP:0000256	Macrocephaly	3845	KRAS	OMIM:600268
HP:0000256	Macrocephaly	3845	KRAS	ORPHA:2396
HP:0000256	Macrocephaly	3845	KRAS	ORPHA:3339
HP:0000256	Macrocephaly	3845	KRAS	ORPHA:1340
HP:0000256	Macrocephaly	25970	SH2B1	ORPHA:261197
HP:0000256	Macrocephaly	6576	SLC25A1	OMIM:615182
HP:0000256	Macrocephaly	112752	IFT43	OMIM:614099
HP:0000256	Macrocephaly	6654	SOS1	OMIM:610733
HP:0000256	Macrocephaly	389827	MYMK	OMIM:254940
HP:0000256	Macrocephaly	79944	L2HGDH	ORPHA:79314
HP:0000256	Macrocephaly	3912	LAMB1	OMIM:615191
HP:0000256	Macrocephaly	8925	HERC1	OMIM:617011
HP:0000256	Macrocephaly	8925	HERC1	ORPHA:457359
HP:0000256	Macrocephaly	4723	NDUFV1	OMIM:618225
HP:0000256	Macrocephaly	23516	SLC39A14	OMIM:617013
HP:0000256	Macrocephaly	92335	STRADA	ORPHA:500533
HP:0000256	Macrocephaly	92335	STRADA	OMIM:611087
HP:0000256	Macrocephaly	51259	TMEM216	OMIM:608091
HP:0000256	Macrocephaly	56623	INPP5E	OMIM:213300
HP:0000256	Macrocephaly	56623	INPP5E	ORPHA:1454
HP:0000256	Macrocephaly	10312	TCIRG1	ORPHA:667
HP:0000256	Macrocephaly	10312	TCIRG1	OMIM:259700
HP:0000256	Macrocephaly	10312	TCIRG1	ORPHA:1782
HP:0000256	Macrocephaly	1186	CLCN7	ORPHA:667
HP:0000256	Macrocephaly	1186	CLCN7	ORPHA:53
HP:0000256	Macrocephaly	29887	SNX10	ORPHA:667
HP:0000256	Macrocephaly	29887	SNX10	OMIM:615085
HP:0000256	Macrocephaly	8600	TNFSF11	ORPHA:667
HP:0000256	Macrocephaly	374654	KIF7	ORPHA:36
HP:0000256	Macrocephaly	374654	KIF7	ORPHA:166024
HP:0000256	Macrocephaly	374654	KIF7	OMIM:200990
HP:0000256	Macrocephaly	374654	KIF7	OMIM:607131
HP:0000256	Macrocephaly	5515	PPP2CA	OMIM:618354
HP:0000256	Macrocephaly	650	BMP2	ORPHA:261295
HP:0000256	Macrocephaly	1193	CLIC2	OMIM:300886
HP:0000256	Macrocephaly	1436	CSF1R	OMIM:618476
HP:0000256	Macrocephaly	9871	SEC24D	OMIM:616294
HP:0000256	Macrocephaly	79868	ALG13	OMIM:300884
HP:0000256	Macrocephaly	29998	BICRA	OMIM:619325
HP:0000256	Macrocephaly	6492	SIM1	ORPHA:171829
HP:0000256	Macrocephaly	443	ASPA	ORPHA:314918
HP:0000256	Macrocephaly	443	ASPA	ORPHA:314911
HP:0000256	Macrocephaly	443	ASPA	OMIM:271900
HP:0000256	Macrocephaly	23729	SHPK	ORPHA:440713
HP:0000256	Macrocephaly	51114	ZDHHC9	ORPHA:776
HP:0000256	Macrocephaly	65109	UPF3B	ORPHA:776
HP:0000256	Macrocephaly	65109	UPF3B	OMIM:300676
HP:0000256	Macrocephaly	84892	POMGNT2	ORPHA:899
HP:0000256	Macrocephaly	148789	B3GALNT2	ORPHA:899
HP:0000256	Macrocephaly	79147	FKRP	ORPHA:899
HP:0000256	Macrocephaly	29954	POMT2	ORPHA:899
HP:0000256	Macrocephaly	9215	LARGE1	ORPHA:899
HP:0000256	Macrocephaly	1282	COL4A1	ORPHA:899
HP:0000256	Macrocephaly	729920	CRPPA	ORPHA:899
HP:0000256	Macrocephaly	729920	CRPPA	OMIM:614643
HP:0000256	Macrocephaly	10329	RXYLT1	ORPHA:899
HP:0000256	Macrocephaly	1605	DAG1	ORPHA:899
HP:0000256	Macrocephaly	1605	DAG1	OMIM:616538
HP:0000256	Macrocephaly	11041	B4GAT1	ORPHA:899
HP:0000256	Macrocephaly	10585	POMT1	ORPHA:899
HP:0000256	Macrocephaly	84197	POMK	ORPHA:899
HP:0000256	Macrocephaly	2218	FKTN	ORPHA:899
HP:0000256	Macrocephaly	55624	POMGNT1	ORPHA:899
HP:0000256	Macrocephaly	3417	IDH1	ORPHA:99646
HP:0000256	Macrocephaly	114548	NLRP3	ORPHA:575
HP:0000256	Macrocephaly	114548	NLRP3	ORPHA:1451
HP:0000256	Macrocephaly	347733	TUBB2B	ORPHA:467166
HP:0000256	Macrocephaly	7846	TUBA1A	ORPHA:467166
HP:0000256	Macrocephaly	57551	TAOK1	OMIM:619575
HP:0000256	Macrocephaly	25915	NDUFAF3	OMIM:618240
HP:0000256	Macrocephaly	3756	KCNH1	OMIM:135500
HP:0000256	Macrocephaly	1108	CHD4	OMIM:617159
HP:0000256	Macrocephaly	84188	FAR1	OMIM:619338
HP:0000256	Macrocephaly	116442	RAB39B	OMIM:311510
HP:0000256	Macrocephaly	116442	RAB39B	ORPHA:2379
HP:0000256	Macrocephaly	116442	RAB39B	OMIM:300271
HP:0000256	Macrocephaly	3897	L1CAM	OMIM:307000
HP:0000256	Macrocephaly	3897	L1CAM	OMIM:303350
HP:0000256	Macrocephaly	3265	HRAS	ORPHA:3071
HP:0000256	Macrocephaly	3265	HRAS	OMIM:218040
HP:0000256	Macrocephaly	10483	SEC23B	ORPHA:201
HP:0000256	Macrocephaly	10483	SEC23B	OMIM:616858
HP:0000256	Macrocephaly	6390	SDHB	ORPHA:201
HP:0000256	Macrocephaly	6392	SDHD	ORPHA:201
HP:0000256	Macrocephaly	6391	SDHC	ORPHA:201
HP:0000256	Macrocephaly	205717	USF3	ORPHA:201
HP:0000256	Macrocephaly	100144748	KLLN	ORPHA:201
HP:0000256	Macrocephaly	100144748	KLLN	OMIM:615107
HP:0000256	Macrocephaly	7319	UBE2A	OMIM:300860
HP:0000256	Macrocephaly	7319	UBE2A	ORPHA:163956
HP:0000256	Macrocephaly	1760	DMPK	ORPHA:589821
HP:0000256	Macrocephaly	10013	HDAC6	OMIM:300863
HP:0000256	Macrocephaly	2009	EML1	OMIM:600348
HP:0000256	Macrocephaly	5277	PIGA	OMIM:300868
HP:0000256	Macrocephaly	2332	FMR1	OMIM:300624
HP:0000256	Macrocephaly	2332	FMR1	ORPHA:908
HP:0000256	Macrocephaly	2475	MTOR	ORPHA:457485
HP:0000256	Macrocephaly	2475	MTOR	ORPHA:99802
HP:0000256	Macrocephaly	2475	MTOR	OMIM:616638
HP:0000256	Macrocephaly	2683	B4GALT1	OMIM:607091
HP:0000256	Macrocephaly	220296	HEPACAM	OMIM:613925
HP:0000256	Macrocephaly	220296	HEPACAM	OMIM:613926
HP:0000256	Macrocephaly	220296	HEPACAM	OMIM:604004
HP:0000256	Macrocephaly	8812	CCNK	OMIM:618147
HP:0000256	Macrocephaly	2892	GRIA3	ORPHA:364028
HP:0000256	Macrocephaly	2892	GRIA3	OMIM:300699
HP:0000256	Macrocephaly	4041	LRP5	ORPHA:178377
HP:0000256	Macrocephaly	10847	SRCAP	OMIM:619595
HP:0000256	Macrocephaly	145173	B3GLCT	OMIM:261540
HP:0000256	Macrocephaly	6711	SPTBN1	OMIM:619475
HP:0000256	Macrocephaly	6608	SMO	OMIM:241800
HP:0000256	Macrocephaly	10283	CWC27	OMIM:250410
HP:0000256	Macrocephaly	6513	SLC2A1	ORPHA:168577
HP:0000256	Macrocephaly	1836	SLC26A2	ORPHA:628
HP:0000256	Macrocephaly	1836	SLC26A2	ORPHA:93298
HP:0000256	Macrocephaly	4534	MTM1	OMIM:310400
HP:0000256	Macrocephaly	10653	SPINT2	OMIM:270420
HP:0000256	Macrocephaly	23405	DICER1	OMIM:618272
HP:0000256	Macrocephaly	3636	INPPL1	OMIM:258480
HP:0000256	Macrocephaly	3636	INPPL1	ORPHA:3144
HP:0000256	Macrocephaly	3636	INPPL1	ORPHA:2746
HP:0000256	Macrocephaly	2571	GAD1	OMIM:619124
HP:0000256	Macrocephaly	23112	TNRC6B	OMIM:619243
HP:0000256	Macrocephaly	288	ANK3	ORPHA:356996
HP:0000256	Macrocephaly	6853	SYN1	ORPHA:85294
HP:0000256	Macrocephaly	6853	SYN1	OMIM:300491
HP:0000256	Macrocephaly	23169	SLC35D1	OMIM:269250
HP:0000256	Macrocephaly	23169	SLC35D1	ORPHA:3144
HP:0000256	Macrocephaly	2799	GNS	OMIM:252940
HP:0000256	Macrocephaly	55252	ASXL2	OMIM:617190
HP:0000256	Macrocephaly	777	CACNA1E	OMIM:618285
HP:0000256	Macrocephaly	8242	KDM5C	ORPHA:85279
HP:0000256	Macrocephaly	8242	KDM5C	OMIM:300534
HP:0000256	Macrocephaly	4781	NFIB	OMIM:618286
HP:0000256	Macrocephaly	8481	OFD1	OMIM:300804
HP:0000256	Macrocephaly	8481	OFD1	OMIM:300209
HP:0000256	Macrocephaly	3295	HSD17B4	OMIM:261515
HP:0000256	Macrocephaly	7474	WNT5A	OMIM:180700
HP:0000256	Macrocephaly	7474	WNT5A	ORPHA:3107
HP:0000256	Macrocephaly	9897	WASHC5	ORPHA:7
HP:0000256	Macrocephaly	23299	BICD2	OMIM:618291
HP:0000256	Macrocephaly	6913	TBX15	OMIM:260660
HP:0000256	Macrocephaly	6913	TBX15	ORPHA:93333
HP:0000256	Macrocephaly	1496	CTNNA2	OMIM:618174
HP:0000256	Macrocephaly	161742	SPRED1	ORPHA:137605
HP:0000256	Macrocephaly	161742	SPRED1	OMIM:611431
HP:0000256	Macrocephaly	25886	POC1A	OMIM:614813
HP:0000256	Macrocephaly	55294	FBXW7	OMIM:620012
HP:0000256	Macrocephaly	7337	UBE3A	ORPHA:238446
HP:0000256	Macrocephaly	2077	ERF	OMIM:600775
HP:0000256	Macrocephaly	894	CCND2	ORPHA:83473
HP:0000256	Macrocephaly	894	CCND2	OMIM:615938
HP:0000256	Macrocephaly	5296	PIK3R2	ORPHA:83473
HP:0000256	Macrocephaly	5296	PIK3R2	OMIM:603387
HP:0000256	Macrocephaly	10000	AKT3	ORPHA:83473
HP:0000256	Macrocephaly	10000	AKT3	ORPHA:99802
HP:0000256	Macrocephaly	10000	AKT3	OMIM:615937
HP:0000256	Macrocephaly	84282	RNF135	ORPHA:137634
HP:0000256	Macrocephaly	57539	WDR35	OMIM:613610
HP:0000256	Macrocephaly	57539	WDR35	ORPHA:93271
HP:0000256	Macrocephaly	5894	RAF1	OMIM:611553
HP:0000256	Macrocephaly	118429	ANTXR2	ORPHA:2176
HP:0000256	Macrocephaly	8854	ALDH1A2	OMIM:620025
HP:0000256	Macrocephaly	4774	NFIA	OMIM:613735
HP:0000256	Macrocephaly	4774	NFIA	ORPHA:401986
HP:0000256	Macrocephaly	64324	NSD1	ORPHA:821
HP:0000256	Macrocephaly	64324	NSD1	OMIM:117550
HP:0000256	Macrocephaly	64324	NSD1	ORPHA:3447
HP:0000256	Macrocephaly	4983	OPHN1	OMIM:300486
HP:0000256	Macrocephaly	55112	DYNC2I1	ORPHA:93271
HP:0000256	Macrocephaly	55112	DYNC2I1	OMIM:615503
HP:0000256	Macrocephaly	57560	IFT80	ORPHA:93271
HP:0000256	Macrocephaly	79659	DYNC2H1	ORPHA:93271
HP:0000256	Macrocephaly	89891	DYNC2I2	ORPHA:93271
HP:0000256	Macrocephaly	5744	PTHLH	ORPHA:93387
HP:0000256	Macrocephaly	3239	HOXD13	ORPHA:93387
HP:0000256	Macrocephaly	55780	ERMARD	ORPHA:75857
HP:0000256	Macrocephaly	9739	SETD1A	OMIM:619056
HP:0000256	Macrocephaly	80204	FBXO11	OMIM:618089
HP:0000256	Macrocephaly	3070	HELLS	ORPHA:2268
HP:0000256	Macrocephaly	1789	DNMT3B	ORPHA:2268
HP:0000256	Macrocephaly	83879	CDCA7	ORPHA:2268
HP:0000256	Macrocephaly	9841	ZBTB24	ORPHA:2268
HP:0000256	Macrocephaly	4338	MOCS2	OMIM:252160
HP:0000256	Macrocephaly	4036	LRP2	ORPHA:2143
HP:0000256	Macrocephaly	4036	LRP2	OMIM:222448
HP:0000256	Macrocephaly	1906	EDN1	ORPHA:137888
HP:0000256	Macrocephaly	5332	PLCB4	ORPHA:137888
HP:0000256	Macrocephaly	5332	PLCB4	OMIM:614669
HP:0000256	Macrocephaly	657	BMPR1A	ORPHA:79076
HP:0000256	Macrocephaly	3425	IDUA	OMIM:607014
HP:0000256	Macrocephaly	4853	NOTCH2	ORPHA:955
HP:0000256	Macrocephaly	2200	FBN1	OMIM:616914
HP:0000256	Macrocephaly	1802	DPH2	OMIM:620062
HP:0000256	Macrocephaly	5447	POR	OMIM:201750
HP:0000256	Macrocephaly	1857	DVL3	ORPHA:3107
HP:0000256	Macrocephaly	1857	DVL3	OMIM:616894
HP:0000256	Macrocephaly	2535	FZD2	ORPHA:3107
HP:0000256	Macrocephaly	5190	PEX6	OMIM:614863
HP:0000256	Macrocephaly	5190	PEX6	ORPHA:44
HP:0000256	Macrocephaly	5190	PEX6	ORPHA:912
HP:0000256	Macrocephaly	81031	SLC2A10	ORPHA:3342
HP:0000256	Macrocephaly	4784	NFIX	ORPHA:420179
HP:0000256	Macrocephaly	4784	NFIX	OMIM:614753
HP:0000256	Macrocephaly	54499	TMCO1	OMIM:213980
HP:0000256	Macrocephaly	54499	TMCO1	ORPHA:1394
HP:0000256	Macrocephaly	22859	ADGRL1	OMIM:620065
HP:0000256	Macrocephaly	6609	SMPD1	OMIM:257200
HP:0000256	Macrocephaly	728294	D2HGDH	OMIM:600721
HP:0000256	Macrocephaly	6558	SLC12A2	OMIM:619081
HP:0000256	Macrocephaly	4089	SMAD4	OMIM:139210
HP:0000256	Macrocephaly	5159	PDGFRB	OMIM:601812
HP:0000256	Macrocephaly	9568	GABBR2	OMIM:617903
HP:0000256	Macrocephaly	9555	MACROH2A1	ORPHA:1275
HP:0000256	Macrocephaly	5307	PITX1	ORPHA:1275
HP:0000256	Macrocephaly	5340	PLG	OMIM:217090
HP:0000256	Macrocephaly	6598	SMARCB1	ORPHA:99966
HP:0000256	Macrocephaly	34	ACADM	ORPHA:42
HP:0000256	Macrocephaly	55670	PEX26	ORPHA:44
HP:0000256	Macrocephaly	55670	PEX26	ORPHA:912
HP:0000256	Macrocephaly	5824	PEX19	ORPHA:44
HP:0000256	Macrocephaly	5824	PEX19	ORPHA:912
HP:0000256	Macrocephaly	5828	PEX2	ORPHA:44
HP:0000256	Macrocephaly	5828	PEX2	ORPHA:912
HP:0000256	Macrocephaly	8504	PEX3	ORPHA:44
HP:0000256	Macrocephaly	8504	PEX3	ORPHA:912
HP:0000256	Macrocephaly	9409	PEX16	ORPHA:44
HP:0000256	Macrocephaly	9409	PEX16	ORPHA:912
HP:0000256	Macrocephaly	8799	PEX11B	ORPHA:44
HP:0000256	Macrocephaly	8799	PEX11B	ORPHA:912
HP:0000256	Macrocephaly	5830	PEX5	ORPHA:44
HP:0000256	Macrocephaly	5830	PEX5	ORPHA:912
HP:0000256	Macrocephaly	5193	PEX12	ORPHA:44
HP:0000256	Macrocephaly	5193	PEX12	ORPHA:912
HP:0000256	Macrocephaly	5194	PEX13	ORPHA:44
HP:0000256	Macrocephaly	5194	PEX13	ORPHA:912
HP:0000256	Macrocephaly	5195	PEX14	ORPHA:44
HP:0000256	Macrocephaly	5195	PEX14	ORPHA:912
HP:0000256	Macrocephaly	5192	PEX10	ORPHA:44
HP:0000256	Macrocephaly	5192	PEX10	ORPHA:912
HP:0000256	Macrocephaly	254065	BRWD3	OMIM:300659
HP:0000256	Macrocephaly	26047	CNTNAP2	OMIM:610042
HP:0000256	Macrocephaly	2146	EZH2	OMIM:277590
HP:0000256	Macrocephaly	2146	EZH2	ORPHA:3447
HP:0000256	Macrocephaly	2776	GNAQ	ORPHA:3205
HP:0000256	Macrocephaly	2776	GNAQ	OMIM:185300
HP:0000256	Macrocephaly	5781	PTPN11	OMIM:151100
HP:0000256	Macrocephaly	23590	PDSS1	OMIM:614651
HP:0000256	Macrocephaly	3720	JARID2	OMIM:620098
HP:0000256	Macrocephaly	10075	HUWE1	OMIM:309590
HP:0000256	Macrocephaly	579	NKX3-2	OMIM:613330
HP:0000256	Macrocephaly	84627	ZNF469	OMIM:229200
HP:0000256	Macrocephaly	132	ADK	OMIM:614300
HP:0000256	Macrocephaly	4038	LRP4	OMIM:614305
HP:0000256	Macrocephaly	9759	HDAC4	ORPHA:1001
HP:0000256	Macrocephaly	11133	KPTN	OMIM:615637
HP:0000256	Macrocephaly	11133	KPTN	ORPHA:397612
HP:0000256	Macrocephaly	10586	MAB21L2	OMIM:615877
HP:0000256	Macrocephaly	85358	SHANK3	OMIM:606232
HP:0000256	Macrocephaly	85358	SHANK3	ORPHA:48652
HP:0000256	Macrocephaly	23028	KDM1A	OMIM:616728
HP:0000256	Macrocephaly	23028	KDM1A	ORPHA:477993
HP:0000256	Macrocephaly	4591	TRIM37	ORPHA:2576
HP:0000256	Macrocephaly	411	ARSB	OMIM:253200
HP:0000256	Macrocephaly	55593	OTUD5	OMIM:301056
HP:0000256	Macrocephaly	2334	AFF2	ORPHA:100973
HP:0000256	Macrocephaly	84162	BLTP1	OMIM:617822
HP:0000256	Macrocephaly	473	RERE	OMIM:616975
HP:0000256	Macrocephaly	4893	NRAS	OMIM:613224
HP:0000256	Macrocephaly	5339	PLEC	OMIM:612138
HP:0000256	Macrocephaly	64221	ROBO3	OMIM:607313
HP:0000256	Macrocephaly	11253	MAN1B1	OMIM:614202
HP:0000256	Macrocephaly	134701	RIPPLY2	ORPHA:2311
HP:0000256	Macrocephaly	10683	DLL3	ORPHA:2311
HP:0000256	Macrocephaly	3955	LFNG	ORPHA:2311
HP:0000256	Macrocephaly	84667	HES7	ORPHA:2311
HP:0000256	Macrocephaly	145873	MESP2	ORPHA:2311
HP:0000256	Macrocephaly	5604	MAP2K1	ORPHA:1340
HP:0000256	Macrocephaly	5605	MAP2K2	ORPHA:1340
HP:0000256	Macrocephaly	1000	CDH2	OMIM:618929
HP:0000256	Macrocephaly	6907	TBL1X	OMIM:301033
HP:0000256	Macrocephaly	3758	KCNJ1	OMIM:241200
HP:0000256	Macrocephaly	91147	TMEM67	ORPHA:1454
HP:0000256	Macrocephaly	23322	RPGRIP1L	ORPHA:1454
HP:0000256	Macrocephaly	57545	CC2D2A	ORPHA:1454
HP:0000256	Macrocephaly	860	RUNX2	ORPHA:1452
HP:0000256	Macrocephaly	139285	AMER1	ORPHA:2780
HP:0000256	Macrocephaly	139285	AMER1	OMIM:300373
HP:0000256	Macrocephaly	57572	DOCK6	OMIM:614219
HP:0000256	Macrocephaly	2313	FLI1	ORPHA:2308
HP:0000256	Macrocephaly	4758	NEU1	ORPHA:93400
HP:0000256	Macrocephaly	3747	KCNC2	OMIM:619913
HP:0000256	Macrocephaly	7204	TRIO	OMIM:618825
HP:0000256	Macrocephaly	4337	MOCS1	OMIM:252150
HP:0000256	Macrocephaly	4659	PPP1R12A	OMIM:618820
HP:0000256	Macrocephaly	91461	PKDCC	OMIM:618821
HP:0000256	Macrocephaly	8905	AP1S2	ORPHA:1568
HP:0000256	Macrocephaly	23209	MLC1	OMIM:604004
HP:0000256	Macrocephaly	6911	TBX6	ORPHA:1797
HP:0000256	Macrocephaly	57688	ZSWIM6	OMIM:617865
HP:0000256	Macrocephaly	1806	DPYD	ORPHA:1675
HP:0000256	Macrocephaly	1806	DPYD	ORPHA:293948
HP:0000256	Macrocephaly	10522	DEAF1	ORPHA:468620
HP:0000256	Macrocephaly	5879	RAC1	OMIM:617751
HP:0000256	Macrocephaly	5879	RAC1	ORPHA:500159
HP:0000256	Macrocephaly	10020	GNE	OMIM:269921
HP:0000256	Macrocephaly	51317	PHF21A	OMIM:618725
HP:0000256	Macrocephaly	2990	GUSB	OMIM:253220
HP:0000256	Macrocephaly	8243	SMC1A	ORPHA:220386
HP:0000256	Macrocephaly	55315	SLC29A3	ORPHA:1782
HP:0000256	Macrocephaly	8777	MPDZ	OMIM:615219
HP:0000256	Macrocephaly	51684	SUFU	OMIM:617757
HP:0000256	Macrocephaly	8139	GAN	OMIM:256850
HP:0000256	Macrocephaly	37	ACADVL	ORPHA:26793
HP:0000256	Macrocephaly	4204	MECP2	OMIM:300260
HP:0000256	Macrocephaly	23102	TBC1D2B	ORPHA:397973
HP:0000256	Macrocephaly	10464	PIBF1	OMIM:617767
HP:0000256	Macrocephaly	10736	SIX2	ORPHA:488437
HP:0000256	Macrocephaly	2108	ETFA	OMIM:231680
HP:0000256	Macrocephaly	2109	ETFB	OMIM:231680
HP:0000256	Macrocephaly	2110	ETFDH	OMIM:231680
HP:0000256	Macrocephaly	4724	NDUFS4	OMIM:252010
HP:0000256	Macrocephaly	2670	GFAP	OMIM:203450
HP:0000256	Macrocephaly	2670	GFAP	ORPHA:363717
HP:0000256	Macrocephaly	2639	GCDH	ORPHA:25
HP:0000256	Macrocephaly	5290	PIK3CA	OMIM:615108
HP:0000256	Macrocephaly	5290	PIK3CA	OMIM:602501
HP:0000256	Macrocephaly	207	AKT1	OMIM:615109
HP:0000256	Macrocephaly	5728	PTEN	OMIM:158350
HP:0000256	Macrocephaly	3074	HEXB	ORPHA:309155
HP:0000256	Macrocephaly	1718	DHCR24	OMIM:602398
HP:0000256	Macrocephaly	9791	PTDSS1	OMIM:151050
HP:0000256	Macrocephaly	8450	CUL4B	OMIM:300354
HP:0000256	Macrocephaly	8036	SHOC2	OMIM:607721
HP:0000256	Macrocephaly	7874	USP7	ORPHA:500055
HP:0000256	Macrocephaly	324	APC	ORPHA:261584
HP:0000256	Macrocephaly	28981	IFT81	OMIM:617895
HP:0000256	Macrocephaly	8216	LZTR1	OMIM:616564
HP:0000256	Macrocephaly	8216	LZTR1	OMIM:605275
HP:0000256	Macrocephaly	3481	IGF2	OMIM:616489
HP:0000256	Macrocephaly	3481	IGF2	ORPHA:231140
HP:0000256	Macrocephaly	3481	IGF2	ORPHA:231144
HP:0000256	Macrocephaly	3481	IGF2	ORPHA:397590
HP:0000256	Macrocephaly	6016	RIT1	OMIM:615355
HP:0000256	Macrocephaly	23314	SATB2	ORPHA:251028
HP:0000256	Macrocephaly	673	BRAF	OMIM:115150
HP:0000256	Macrocephaly	23363	OBSL1	OMIM:612921
HP:0000256	Macrocephaly	4796	TONSL	ORPHA:93357
HP:0000256	Macrocephaly	4796	TONSL	OMIM:271510
HP:0000256	Macrocephaly	8091	HMGA2	OMIM:618908
HP:0000256	Macrocephaly	8091	HMGA2	ORPHA:397590
HP:0000256	Macrocephaly	2887	GRB10	ORPHA:96182
HP:0000256	Macrocephaly	4000	LMNA	ORPHA:740
HP:0000256	Macrocephaly	10269	ZMPSTE24	ORPHA:740
HP:0000256	Macrocephaly	283120	H19	ORPHA:231140
HP:0000256	Macrocephaly	283120	H19	ORPHA:231144
HP:0000256	Macrocephaly	9321	TRIP11	OMIM:184260
HP:0000256	Macrocephaly	4841	NONO	OMIM:300967
HP:0000256	Macrocephaly	4841	NONO	ORPHA:466791
HP:0000256	Macrocephaly	388015	RTL1	ORPHA:254525
HP:0000256	Macrocephaly	8788	DLK1	ORPHA:254525
HP:0000256	Macrocephaly	55384	MEG3	ORPHA:254525
HP:0000256	Macrocephaly	6651	SON	OMIM:617140
HP:0000256	Macrocephaly	6651	SON	ORPHA:500150
HP:0000256	Macrocephaly	83737	ITCH	OMIM:613385
HP:0000256	Macrocephaly	83737	ITCH	ORPHA:228426
HP:0000256	Macrocephaly	28952	CCDC22	OMIM:300963
HP:0000256	Macrocephaly	1028	CDKN1C	ORPHA:397590
HP:0000256	Macrocephaly	5324	PLAG1	ORPHA:397590
HP:0000256	Macrocephaly	8239	USP9X	OMIM:300919
HP:0000256	Macrocephaly	5500	PPP1CB	OMIM:617506
HP:0000256	Macrocephaly	4763	NF1	OMIM:193520
HP:0000256	Macrocephaly	6662	SOX9	OMIM:114290
HP:0000256	Macrocephaly	176	ACAN	ORPHA:171866
HP:0000256	Macrocephaly	176	ACAN	OMIM:612813
HP:0000256	Macrocephaly	4286	MITF	OMIM:617306
HP:0000256	Macrocephaly	9968	MED12	OMIM:305450
HP:0000256	Macrocephaly	3911	LAMA5	OMIM:620076
HP:0000256	Macrocephaly	11128	POLR3A	ORPHA:3455
HP:0000256	Macrocephaly	57231	SNX14	ORPHA:397709
HP:0000256	Macrocephaly	57231	SNX14	OMIM:616354
HP:0000256	Macrocephaly	2271	FH	OMIM:606812
HP:0000256	Macrocephaly	57020	VPS35L	OMIM:619135
HP:0000256	Macrocephaly	10940	POP1	OMIM:617396
HP:0000256	Macrocephaly	153241	CEP120	OMIM:616300
HP:0000256	Macrocephaly	64359	NXN	OMIM:618529
HP:0000256	Macrocephaly	5426	POLE	OMIM:615139
HP:0000256	Macrocephaly	5426	POLE	OMIM:618336
HP:0000256	Macrocephaly	64131	XYLT1	OMIM:615777
HP:0000256	Macrocephaly	64131	XYLT1	ORPHA:370930
HP:0000256	Macrocephaly	1795	DOCK3	OMIM:618292
HP:0000256	Macrocephaly	4982	TNFRSF11B	OMIM:239000
HP:0000256	Macrocephaly	7703	PCGF2	OMIM:618371
HP:0000256	Macrocephaly	3549	IHH	OMIM:607778
HP:0000256	Macrocephaly	633	BGN	OMIM:300989
HP:0000256	Macrocephaly	22808	MRAS	OMIM:618499
HP:0000256	Macrocephaly	10297	APC2	OMIM:617169
HP:0000256	Macrocephaly	55331	ACER3	OMIM:617762
HP:0000256	Macrocephaly	7067	THRA	OMIM:614450
HP:0000256	Macrocephaly	3930	LBR	OMIM:618019
HP:0000256	Macrocephaly	871	SERPINH1	OMIM:613848
HP:0000256	Macrocephaly	1801	DPH1	ORPHA:459061
HP:0000256	Macrocephaly	6567	SLC16A2	ORPHA:59
HP:0000256	Macrocephaly	4953	ODC1	OMIM:619075
HP:0000256	Macrocephaly	23556	PIGN	ORPHA:280633
HP:0000256	Macrocephaly	274	BIN1	ORPHA:169189
HP:0000256	Macrocephaly	64419	MTMR14	ORPHA:169189
HP:0000256	Macrocephaly	4618	MYF6	ORPHA:169189
HP:0000256	Macrocephaly	1785	DNM2	ORPHA:169189
HP:0000256	Macrocephaly	6261	RYR1	ORPHA:169189
HP:0000256	Macrocephaly	54914	FOCAD	OMIM:619991
HP:0000256	Macrocephaly	2782	GNB1	OMIM:616973
HP:0000256	Macrocephaly	29072	SETD2	OMIM:620157
HP:0000256	Macrocephaly	29072	SETD2	OMIM:620155
HP:0000256	Macrocephaly	5058	PAK1	OMIM:618158
HP:0000256	Macrocephaly	63901	FAM111A	ORPHA:93325
HP:0005495	Metopic suture patent to nasal root	26040	SETBP1	OMIM:269150
HP:0005494	Premature posterior fontanelle closure	10736	SIX2	ORPHA:488437
HP:0005490	Postnatal macrocephaly	2782	GNB1	OMIM:616973
HP:0005490	Postnatal macrocephaly	29072	SETD2	OMIM:620157
HP:0005490	Postnatal macrocephaly	29072	SETD2	OMIM:620155
HP:0005490	Postnatal macrocephaly	9968	MED12	OMIM:305450
HP:0005490	Postnatal macrocephaly	5058	PAK1	OMIM:618158
HP:0005490	Postnatal macrocephaly	5728	PTEN	OMIM:605309
HP:0005490	Postnatal macrocephaly	63901	FAM111A	ORPHA:93325
HP:0031352	Chest tightness	1837	DTNA	OMIM:604169
HP:0031353	Otitis media with effusion	2248	FGF3	ORPHA:2791
HP:0031354	Sleep onset insomnia	57479	PRR12	OMIM:619539
HP:0031354	Sleep onset insomnia	51111	KMT5B	OMIM:617788
HP:0031354	Sleep onset insomnia	2799	GNS	OMIM:252940
HP:0031354	Sleep onset insomnia	1407	CRY1	OMIM:614163
HP:0031355	Maintenance insomnia	6304	SATB1	OMIM:619229
HP:0031358	Vegetative state	410	ARSA	ORPHA:309271
HP:0031358	Vegetative state	410	ARSA	ORPHA:309263
HP:0031358	Vegetative state	410	ARSA	ORPHA:309256
HP:0031358	Vegetative state	5660	PSAP	ORPHA:309271
HP:0031358	Vegetative state	5660	PSAP	ORPHA:309263
HP:0031358	Vegetative state	5660	PSAP	ORPHA:309256
HP:0031358	Vegetative state	5660	PSAP	OMIM:611722
HP:0031358	Vegetative state	80856	LNPK	OMIM:618090
HP:0031358	Vegetative state	122961	ISCA2	OMIM:616370
HP:0031358	Vegetative state	79989	IFT56	OMIM:619534
HP:0031358	Vegetative state	215	ABCD1	ORPHA:139396
HP:0031358	Vegetative state	16	AARS1	OMIM:619661
HP:0031358	Vegetative state	5828	PEX2	OMIM:614866
HP:0031358	Vegetative state	55164	SHQ1	OMIM:619922
HP:0031358	Vegetative state	5428	POLG	OMIM:203700
HP:0031358	Vegetative state	5277	PIGA	OMIM:301072
HP:0031358	Vegetative state	8398	PLA2G6	ORPHA:35069
HP:0031358	Vegetative state	378884	NHLRC1	ORPHA:501
HP:0031358	Vegetative state	7957	EPM2A	ORPHA:501
HP:0000007	Autosomal recessive inheritance	64170	CARD9	OMIM:212050
HP:0000007	Autosomal recessive inheritance	2673	GFPT1	OMIM:608931
HP:0000007	Autosomal recessive inheritance	2673	GFPT1	OMIM:610542
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:608931
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:605809
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:616324
HP:0000007	Autosomal recessive inheritance	51256	TBC1D7	OMIM:248000
HP:0000007	Autosomal recessive inheritance	28981	IFT81	OMIM:617895
HP:0000007	Autosomal recessive inheritance	5949	RBP3	OMIM:615233
HP:0000007	Autosomal recessive inheritance	5949	RBP3	OMIM:268000
HP:0000007	Autosomal recessive inheritance	583	BBS2	OMIM:616562
HP:0000007	Autosomal recessive inheritance	583	BBS2	OMIM:615981
HP:0000007	Autosomal recessive inheritance	51569	UFM1	OMIM:617899
HP:0000007	Autosomal recessive inheritance	79827	CLMP	OMIM:615237
HP:0000007	Autosomal recessive inheritance	134701	RIPPLY2	OMIM:616566
HP:0000007	Autosomal recessive inheritance	7299	TYR	OMIM:203100
HP:0000007	Autosomal recessive inheritance	7299	TYR	OMIM:606952
HP:0000007	Autosomal recessive inheritance	63924	CIDEC	OMIM:615238
HP:0000007	Autosomal recessive inheritance	6890	TAP1	OMIM:604571
HP:0000007	Autosomal recessive inheritance	6891	TAP2	OMIM:604571
HP:0000007	Autosomal recessive inheritance	6892	TAPBP	OMIM:604571
HP:0000007	Autosomal recessive inheritance	7068	THRB	OMIM:274300
HP:0000007	Autosomal recessive inheritance	1134	CHRNA1	OMIM:608930
HP:0000007	Autosomal recessive inheritance	1134	CHRNA1	OMIM:253290
HP:0000007	Autosomal recessive inheritance	51099	ABHD5	OMIM:275630
HP:0000007	Autosomal recessive inheritance	2731	GLDC	OMIM:605899
HP:0000007	Autosomal recessive inheritance	275	AMT	OMIM:605899
HP:0000007	Autosomal recessive inheritance	54714	CNGB3	OMIM:262300
HP:0000007	Autosomal recessive inheritance	2073	ERCC5	OMIM:616570
HP:0000007	Autosomal recessive inheritance	2073	ERCC5	OMIM:278780
HP:0000007	Autosomal recessive inheritance	396	ARHGDIA	OMIM:615244
HP:0000007	Autosomal recessive inheritance	166378	AFG2A	OMIM:616577
HP:0000007	Autosomal recessive inheritance	146845	CFAP52	OMIM:619607
HP:0000007	Autosomal recessive inheritance	25790	CFAP45	OMIM:619608
HP:0000007	Autosomal recessive inheritance	477	ATP1A2	OMIM:619602
HP:0000007	Autosomal recessive inheritance	84197	POMK	OMIM:615249
HP:0000007	Autosomal recessive inheritance	84197	POMK	OMIM:616094
HP:0000007	Autosomal recessive inheritance	84520	GON7	OMIM:619603
HP:0000007	Autosomal recessive inheritance	81846	SBF2	OMIM:604563
HP:0000007	Autosomal recessive inheritance	1161	ERCC8	OMIM:216400
HP:0000007	Autosomal recessive inheritance	1161	ERCC8	OMIM:614621
HP:0000007	Autosomal recessive inheritance	79693	YRDC	OMIM:619609
HP:0000007	Autosomal recessive inheritance	1369	CPN1	OMIM:212070
HP:0000007	Autosomal recessive inheritance	5832	ALDH18A1	OMIM:616586
HP:0000007	Autosomal recessive inheritance	5832	ALDH18A1	OMIM:219150
HP:0000007	Autosomal recessive inheritance	79029	AFG2B	OMIM:619616
HP:0000007	Autosomal recessive inheritance	79029	AFG2B	OMIM:619615
HP:0000007	Autosomal recessive inheritance	7436	VLDLR	OMIM:224050
HP:0000007	Autosomal recessive inheritance	80201	HKDC1	OMIM:619614
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:215100
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:266500
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:614879
HP:0000007	Autosomal recessive inheritance	200942	KLHDC8B	OMIM:236000
HP:0000007	Autosomal recessive inheritance	1565	CYP2D6	OMIM:608902
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:619621
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:616531
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:619708
HP:0000007	Autosomal recessive inheritance	54756	IL17RD	OMIM:615267
HP:0000007	Autosomal recessive inheritance	51761	ATP8A2	OMIM:615268
HP:0000007	Autosomal recessive inheritance	51702	PADI3	OMIM:191480
HP:0000007	Autosomal recessive inheritance	4247	MGAT2	OMIM:212066
HP:0000007	Autosomal recessive inheritance	5373	PMM2	OMIM:212065
HP:0000007	Autosomal recessive inheritance	5337	PLD1	OMIM:212093
HP:0000007	Autosomal recessive inheritance	5317	PKP1	OMIM:604536
HP:0000007	Autosomal recessive inheritance	167691	LCA5	OMIM:604537
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:615272
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:610965
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:278760
HP:0000007	Autosomal recessive inheritance	30009	TBX21	OMIM:619630
HP:0000007	Autosomal recessive inheritance	30009	TBX21	OMIM:208550
HP:0000007	Autosomal recessive inheritance	55768	NGLY1	OMIM:615273
HP:0000007	Autosomal recessive inheritance	1770	DNAH9	OMIM:618300
HP:0000007	Autosomal recessive inheritance	29775	CARD10	OMIM:619632
HP:0000007	Autosomal recessive inheritance	55621	TRMT1	OMIM:618302
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:241410
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:244460
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:617207
HP:0000007	Autosomal recessive inheritance	3982	LIM2	OMIM:615277
HP:0000007	Autosomal recessive inheritance	5593	PRKG2	OMIM:619638
HP:0000007	Autosomal recessive inheritance	5593	PRKG2	OMIM:619636
HP:0000007	Autosomal recessive inheritance	399	RHOH	OMIM:618307
HP:0000007	Autosomal recessive inheritance	9354	UBE4A	OMIM:619639
HP:0000007	Autosomal recessive inheritance	3574	IL7	OMIM:618309
HP:0000007	Autosomal recessive inheritance	55823	VPS11	OMIM:619637
HP:0000007	Autosomal recessive inheritance	55823	VPS11	OMIM:616683
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253400
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253300
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:271150
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253550
HP:0000007	Autosomal recessive inheritance	6607	SMN2	OMIM:253400
HP:0000007	Autosomal recessive inheritance	3507	IGHM	OMIM:601495
HP:0000007	Autosomal recessive inheritance	54828	BCAS3	OMIM:619641
HP:0000007	Autosomal recessive inheritance	6305	SBF1	OMIM:615284
HP:0000007	Autosomal recessive inheritance	1615	DARS1	OMIM:615281
HP:0000007	Autosomal recessive inheritance	431705	ASTL	OMIM:619643
HP:0000007	Autosomal recessive inheritance	57169	ZNFX1	OMIM:619644
HP:0000007	Autosomal recessive inheritance	11041	B4GAT1	OMIM:615287
HP:0000007	Autosomal recessive inheritance	11311	VPS45	OMIM:615285
HP:0000007	Autosomal recessive inheritance	113179	ADAT3	OMIM:615286
HP:0000007	Autosomal recessive inheritance	145645	TERB2	OMIM:619645
HP:0000007	Autosomal recessive inheritance	283847	TERB1	OMIM:619646
HP:0000007	Autosomal recessive inheritance	111	ADCY5	OMIM:619647
HP:0000007	Autosomal recessive inheritance	111	ADCY5	OMIM:619651
HP:0000007	Autosomal recessive inheritance	9772	TMEM94	OMIM:618316
HP:0000007	Autosomal recessive inheritance	79971	WLS	OMIM:619648
HP:0000007	Autosomal recessive inheritance	57462	MYORG	OMIM:618317
HP:0000007	Autosomal recessive inheritance	29958	DMGDH	OMIM:605850
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:271245
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:607459
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:616138
HP:0000007	Autosomal recessive inheritance	3373	HYAL1	OMIM:601492
HP:0000007	Autosomal recessive inheritance	1491	CTH	OMIM:219500
HP:0000007	Autosomal recessive inheritance	92749	DRC1	OMIM:615294
HP:0000007	Autosomal recessive inheritance	92749	DRC1	OMIM:620222
HP:0000007	Autosomal recessive inheritance	55739	NAXD	OMIM:618321
HP:0000007	Autosomal recessive inheritance	5966	REL	OMIM:619652
HP:0000007	Autosomal recessive inheritance	7143	TNR	OMIM:619653
HP:0000007	Autosomal recessive inheritance	6843	VAMP1	OMIM:618323
HP:0000007	Autosomal recessive inheritance	197258	FCSK	OMIM:618324
HP:0000007	Autosomal recessive inheritance	2694	CBLIF	OMIM:261000
HP:0000007	Autosomal recessive inheritance	285203	EOGT	OMIM:615297
HP:0000007	Autosomal recessive inheritance	125988	MICOS13	OMIM:618329
HP:0000007	Autosomal recessive inheritance	84168	ANTXR1	OMIM:230740
HP:0000007	Autosomal recessive inheritance	4087	SMAD2	OMIM:619657
HP:0000007	Autosomal recessive inheritance	54532	USP53	OMIM:619658
HP:0000007	Autosomal recessive inheritance	2744	GLS	OMIM:618328
HP:0000007	Autosomal recessive inheritance	2744	GLS	OMIM:618412
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:600151
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:268000
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:209900
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:613575
HP:0000007	Autosomal recessive inheritance	5654	HTRA1	OMIM:600142
HP:0000007	Autosomal recessive inheritance	2055	CLN8	OMIM:600143
HP:0000007	Autosomal recessive inheritance	2055	CLN8	OMIM:610003
HP:0000007	Autosomal recessive inheritance	23514	SPIDR	OMIM:619665
HP:0000007	Autosomal recessive inheritance	54101	RIPK4	OMIM:263650
HP:0000007	Autosomal recessive inheritance	54101	RIPK4	OMIM:214350
HP:0000007	Autosomal recessive inheritance	51693	TRAPPC2L	OMIM:618331
HP:0000007	Autosomal recessive inheritance	113220	KIF12	OMIM:619662
HP:0000007	Autosomal recessive inheritance	120	ADD3	OMIM:617008
HP:0000007	Autosomal recessive inheritance	7535	ZAP70	OMIM:617006
HP:0000007	Autosomal recessive inheritance	7535	ZAP70	OMIM:269840
HP:0000007	Autosomal recessive inheritance	5426	POLE	OMIM:618336
HP:0000007	Autosomal recessive inheritance	5426	POLE	OMIM:615139
HP:0000007	Autosomal recessive inheritance	7273	TTN	OMIM:611705
HP:0000007	Autosomal recessive inheritance	7273	TTN	OMIM:608807
HP:0000007	Autosomal recessive inheritance	64132	XYLT2	OMIM:605822
HP:0000007	Autosomal recessive inheritance	64132	XYLT2	OMIM:264800
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:133540
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:278800
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:600630
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:214150
HP:0000007	Autosomal recessive inheritance	7287	TULP1	OMIM:600132
HP:0000007	Autosomal recessive inheritance	7287	TULP1	OMIM:613843
HP:0000007	Autosomal recessive inheritance	10020	GNE	OMIM:605820
HP:0000007	Autosomal recessive inheritance	6448	SGSH	OMIM:252900
HP:0000007	Autosomal recessive inheritance	8925	HERC1	OMIM:617011
HP:0000007	Autosomal recessive inheritance	1281	COL3A1	OMIM:618343
HP:0000007	Autosomal recessive inheritance	196	AHR	OMIM:618345
HP:0000007	Autosomal recessive inheritance	10785	WDR4	OMIM:618346
HP:0000007	Autosomal recessive inheritance	10785	WDR4	OMIM:618347
HP:0000007	Autosomal recessive inheritance	1441	CSF3R	OMIM:617014
HP:0000007	Autosomal recessive inheritance	23516	SLC39A14	OMIM:617013
HP:0000007	Autosomal recessive inheritance	84074	QRICH2	OMIM:618341
HP:0000007	Autosomal recessive inheritance	10734	STAG3	OMIM:619672
HP:0000007	Autosomal recessive inheritance	10734	STAG3	OMIM:615723
HP:0000007	Autosomal recessive inheritance	285498	RNF212	OMIM:619673
HP:0000007	Autosomal recessive inheritance	54517	PUS7	OMIM:618342
HP:0000007	Autosomal recessive inheritance	10564	ARFGEF2	OMIM:608097
HP:0000007	Autosomal recessive inheritance	4311	MME	OMIM:617017
HP:0000007	Autosomal recessive inheritance	5396	PRRX1	OMIM:202650
HP:0000007	Autosomal recessive inheritance	1798	DPAGT1	OMIM:608093
HP:0000007	Autosomal recessive inheritance	1798	DPAGT1	OMIM:614750
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:618348
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:618078
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:616730
HP:0000007	Autosomal recessive inheritance	55746	NUP133	OMIM:618349
HP:0000007	Autosomal recessive inheritance	55746	NUP133	OMIM:618177
HP:0000007	Autosomal recessive inheritance	51259	TMEM216	OMIM:608091
HP:0000007	Autosomal recessive inheritance	51259	TMEM216	OMIM:603194
HP:0000007	Autosomal recessive inheritance	56623	INPP5E	OMIM:213300
HP:0000007	Autosomal recessive inheritance	56623	INPP5E	OMIM:610156
HP:0000007	Autosomal recessive inheritance	4023	LPL	OMIM:238600
HP:0000007	Autosomal recessive inheritance	1950	EGF	OMIM:611718
HP:0000007	Autosomal recessive inheritance	6442	SGCA	OMIM:608099
HP:0000007	Autosomal recessive inheritance	56945	MRPS22	OMIM:611719
HP:0000007	Autosomal recessive inheritance	56945	MRPS22	OMIM:618117
HP:0000007	Autosomal recessive inheritance	10165	SLC25A13	OMIM:605814
HP:0000007	Autosomal recessive inheritance	10165	SLC25A13	OMIM:603471
HP:0000007	Autosomal recessive inheritance	55315	SLC29A3	OMIM:602782
HP:0000007	Autosomal recessive inheritance	8540	AGPS	OMIM:600121
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:601457
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:233650
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:603554
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:601457
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:233650
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:603554
HP:0000007	Autosomal recessive inheritance	10397	NDRG1	OMIM:601455
HP:0000007	Autosomal recessive inheritance	55610	VPS50	OMIM:619685
HP:0000007	Autosomal recessive inheritance	91754	NEK9	OMIM:617022
HP:0000007	Autosomal recessive inheritance	91754	NEK9	OMIM:614262
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:226600
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:131850
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:131705
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:604129
HP:0000007	Autosomal recessive inheritance	4312	MMP1	OMIM:226600
HP:0000007	Autosomal recessive inheritance	81790	RNF170	OMIM:619686
HP:0000007	Autosomal recessive inheritance	23395	LARS2	OMIM:617021
HP:0000007	Autosomal recessive inheritance	23395	LARS2	OMIM:615300
HP:0000007	Autosomal recessive inheritance	23114	NFASC	OMIM:618356
HP:0000007	Autosomal recessive inheritance	64801	ARV1	OMIM:617020
HP:0000007	Autosomal recessive inheritance	55182	RNF220	OMIM:619688
HP:0000007	Autosomal recessive inheritance	116461	TSEN15	OMIM:617026
HP:0000007	Autosomal recessive inheritance	55262	TRAPPC14	OMIM:618351
HP:0000007	Autosomal recessive inheritance	2784	GNB3	OMIM:617024
HP:0000007	Autosomal recessive inheritance	7783	ZP2	OMIM:618353
HP:0000007	Autosomal recessive inheritance	60509	AGBL5	OMIM:617023
HP:0000007	Autosomal recessive inheritance	23043	TNIK	OMIM:617028
HP:0000007	Autosomal recessive inheritance	140801	RPL10L	OMIM:619689
HP:0000007	Autosomal recessive inheritance	11190	CEP250	OMIM:618358
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:611721
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:611722
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:249900
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:610539
HP:0000007	Autosomal recessive inheritance	154881	KCTD7	OMIM:611726
HP:0000007	Autosomal recessive inheritance	346007	EYS	OMIM:602772
HP:0000007	Autosomal recessive inheritance	5934	RBL2	OMIM:619690
HP:0000007	Autosomal recessive inheritance	57190	SELENON	OMIM:602771
HP:0000007	Autosomal recessive inheritance	79709	COLGALT1	OMIM:618360
HP:0000007	Autosomal recessive inheritance	16	AARS1	OMIM:619691
HP:0000007	Autosomal recessive inheritance	16	AARS1	OMIM:616339
HP:0000007	Autosomal recessive inheritance	5071	PRKN	OMIM:600116
HP:0000007	Autosomal recessive inheritance	7480	WNT10B	OMIM:225300
HP:0000007	Autosomal recessive inheritance	286151	FBXO43	OMIM:619696
HP:0000007	Autosomal recessive inheritance	286151	FBXO43	OMIM:619697
HP:0000007	Autosomal recessive inheritance	153642	ARSK	OMIM:619698
HP:0000007	Autosomal recessive inheritance	10588	MTHFS	OMIM:618367
HP:0000007	Autosomal recessive inheritance	22930	RAB3GAP1	OMIM:600118
HP:0000007	Autosomal recessive inheritance	22930	RAB3GAP1	OMIM:619420
HP:0000007	Autosomal recessive inheritance	51434	ANAPC7	OMIM:619699
HP:0000007	Autosomal recessive inheritance	122622	ADSS1	OMIM:617030
HP:0000007	Autosomal recessive inheritance	4141	MARS1	OMIM:619692
HP:0000007	Autosomal recessive inheritance	4141	MARS1	OMIM:615486
HP:0000007	Autosomal recessive inheritance	7922	SLC39A7	OMIM:619693
HP:0000007	Autosomal recessive inheritance	84068	SLC10A7	OMIM:618363
HP:0000007	Autosomal recessive inheritance	3643	INSR	OMIM:246200
HP:0000007	Autosomal recessive inheritance	3643	INSR	OMIM:262190
HP:0000007	Autosomal recessive inheritance	6718	AKR1D1	OMIM:235555
HP:0000007	Autosomal recessive inheritance	54834	GDAP2	OMIM:618369
HP:0000007	Autosomal recessive inheritance	4625	MYH7	OMIM:255160
HP:0000007	Autosomal recessive inheritance	3431	SP110	OMIM:235550
HP:0000007	Autosomal recessive inheritance	4647	MYO7A	OMIM:276900
HP:0000007	Autosomal recessive inheritance	4647	MYO7A	OMIM:600060
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:276900
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:276904
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:602092
HP:0000007	Autosomal recessive inheritance	7399	USH2A	OMIM:276901
HP:0000007	Autosomal recessive inheritance	7399	USH2A	OMIM:613809
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:276901
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:618003
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:605472
HP:0000007	Autosomal recessive inheritance	23418	CRB1	OMIM:600105
HP:0000007	Autosomal recessive inheritance	23418	CRB1	OMIM:613835
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:276902
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:614180
HP:0000007	Autosomal recessive inheritance	7086	TKT	OMIM:617044
HP:0000007	Autosomal recessive inheritance	63931	MRPS14	OMIM:618378
HP:0000007	Autosomal recessive inheritance	5321	PLA2G4A	OMIM:618372
HP:0000007	Autosomal recessive inheritance	23328	SASH1	OMIM:618373
HP:0000007	Autosomal recessive inheritance	10667	FARS2	OMIM:617046
HP:0000007	Autosomal recessive inheritance	10667	FARS2	OMIM:614946
HP:0000007	Autosomal recessive inheritance	9971	NR1H4	OMIM:617049
HP:0000007	Autosomal recessive inheritance	2065	ERBB3	OMIM:243180
HP:0000007	Autosomal recessive inheritance	2065	ERBB3	OMIM:607598
HP:0000007	Autosomal recessive inheritance	9294	S1PR2	OMIM:610419
HP:0000007	Autosomal recessive inheritance	3674	ITGA2B	OMIM:273800
HP:0000007	Autosomal recessive inheritance	83480	PUS3	OMIM:617051
HP:0000007	Autosomal recessive inheritance	8943	AP3D1	OMIM:617050
HP:0000007	Autosomal recessive inheritance	83959	SLC4A11	OMIM:217700
HP:0000007	Autosomal recessive inheritance	83959	SLC4A11	OMIM:217400
HP:0000007	Autosomal recessive inheritance	65260	COA7	OMIM:618387
HP:0000007	Autosomal recessive inheritance	55975	KLHL7	OMIM:617055
HP:0000007	Autosomal recessive inheritance	55697	VAC14	OMIM:617054
HP:0000007	Autosomal recessive inheritance	5913	RAPSN	OMIM:618388
HP:0000007	Autosomal recessive inheritance	5913	RAPSN	OMIM:616326
HP:0000007	Autosomal recessive inheritance	1053	CEBPE	OMIM:260570
HP:0000007	Autosomal recessive inheritance	1053	CEBPE	OMIM:245480
HP:0000007	Autosomal recessive inheritance	285489	DOK7	OMIM:618389
HP:0000007	Autosomal recessive inheritance	285489	DOK7	OMIM:254300
HP:0000007	Autosomal recessive inheritance	134218	DNAJC21	OMIM:617052
HP:0000007	Autosomal recessive inheritance	134218	DNAJC21	OMIM:260400
HP:0000007	Autosomal recessive inheritance	3914	LAMB3	OMIM:226650
HP:0000007	Autosomal recessive inheritance	3914	LAMB3	OMIM:226700
HP:0000007	Autosomal recessive inheritance	27107	ZBTB11	OMIM:618383
HP:0000007	Autosomal recessive inheritance	64849	SLC13A3	OMIM:618384
HP:0000007	Autosomal recessive inheritance	1278	COL1A2	OMIM:225320
HP:0000007	Autosomal recessive inheritance	84957	RELT	OMIM:618386
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:611755
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:615991
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:610188
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:610189
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:611134
HP:0000007	Autosomal recessive inheritance	57010	CABP4	OMIM:610427
HP:0000007	Autosomal recessive inheritance	162417	NAGS	OMIM:237310
HP:0000007	Autosomal recessive inheritance	8720	MBTPS1	OMIM:618392
HP:0000007	Autosomal recessive inheritance	4927	NUP88	OMIM:618393
HP:0000007	Autosomal recessive inheritance	9325	TRIP4	OMIM:617066
HP:0000007	Autosomal recessive inheritance	9325	TRIP4	OMIM:616866
HP:0000007	Autosomal recessive inheritance	84868	HAVCR2	OMIM:618398
HP:0000007	Autosomal recessive inheritance	60558	GUF1	OMIM:617065
HP:0000007	Autosomal recessive inheritance	8318	CDC45	OMIM:617063
HP:0000007	Autosomal recessive inheritance	9326	ZNHIT3	OMIM:260565
HP:0000007	Autosomal recessive inheritance	23233	EXOC6B	OMIM:618395
HP:0000007	Autosomal recessive inheritance	7084	TK2	OMIM:617069
HP:0000007	Autosomal recessive inheritance	7084	TK2	OMIM:609560
HP:0000007	Autosomal recessive inheritance	1674	DES	OMIM:601419
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:617068
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:617070
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:251880
HP:0000007	Autosomal recessive inheritance	84340	GFM2	OMIM:618397
HP:0000007	Autosomal recessive inheritance	2799	GNS	OMIM:252940
HP:0000007	Autosomal recessive inheritance	26092	TOR1AIP1	OMIM:617072
HP:0000007	Autosomal recessive inheritance	2203	FBP1	OMIM:229700
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:226670
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:612138
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:616487
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:226730
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:613723
HP:0000007	Autosomal recessive inheritance	51594	NBAS	OMIM:614800
HP:0000007	Autosomal recessive inheritance	51594	NBAS	OMIM:616483
HP:0000007	Autosomal recessive inheritance	54187	NANS	OMIM:610442
HP:0000007	Autosomal recessive inheritance	138050	HGSNAT	OMIM:252930
HP:0000007	Autosomal recessive inheritance	138050	HGSNAT	OMIM:616544
HP:0000007	Autosomal recessive inheritance	50617	ATP6V0A4	OMIM:602722
HP:0000007	Autosomal recessive inheritance	116150	NUS1	OMIM:617082
HP:0000007	Autosomal recessive inheritance	51626	DYNC2LI1	OMIM:617088
HP:0000007	Autosomal recessive inheritance	9927	MFN2	OMIM:617087
HP:0000007	Autosomal recessive inheritance	56947	MFF	OMIM:617086
HP:0000007	Autosomal recessive inheritance	1291	COL6A1	OMIM:158810
HP:0000007	Autosomal recessive inheritance	1291	COL6A1	OMIM:254090
HP:0000007	Autosomal recessive inheritance	1292	COL6A2	OMIM:158810
HP:0000007	Autosomal recessive inheritance	1292	COL6A2	OMIM:254090
HP:0000007	Autosomal recessive inheritance	1292	COL6A2	OMIM:255600
HP:0000007	Autosomal recessive inheritance	1293	COL6A3	OMIM:158810
HP:0000007	Autosomal recessive inheritance	1293	COL6A3	OMIM:616411
HP:0000007	Autosomal recessive inheritance	1293	COL6A3	OMIM:254090
HP:0000007	Autosomal recessive inheritance	4137	MAPT	OMIM:260540
HP:0000007	Autosomal recessive inheritance	54809	SAMD9	OMIM:610455
HP:0000007	Autosomal recessive inheritance	26123	TCTN3	OMIM:614815
HP:0000007	Autosomal recessive inheritance	26123	TCTN3	OMIM:258860
HP:0000007	Autosomal recessive inheritance	27445	PCLO	OMIM:608027
HP:0000007	Autosomal recessive inheritance	1373	CPS1	OMIM:237300
HP:0000007	Autosomal recessive inheritance	4669	NAGLU	OMIM:252920
HP:0000007	Autosomal recessive inheritance	25886	POC1A	OMIM:614813
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:614819
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:600975
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:251750
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:613086
HP:0000007	Autosomal recessive inheritance	22909	FAN1	OMIM:614817
HP:0000007	Autosomal recessive inheritance	168667	BMPER	OMIM:608022
HP:0000007	Autosomal recessive inheritance	64374	SIL1	OMIM:248800
HP:0000007	Autosomal recessive inheritance	2643	GCH1	OMIM:128230
HP:0000007	Autosomal recessive inheritance	2643	GCH1	OMIM:233910
HP:0000007	Autosomal recessive inheritance	26128	KIFBP	OMIM:609460
HP:0000007	Autosomal recessive inheritance	80308	FLAD1	OMIM:255100
HP:0000007	Autosomal recessive inheritance	25821	MTO1	OMIM:614702
HP:0000007	Autosomal recessive inheritance	987	LRBA	OMIM:614700
HP:0000007	Autosomal recessive inheritance	2896	GRN	OMIM:614706
HP:0000007	Autosomal recessive inheritance	5961	PRPH2	OMIM:608133
HP:0000007	Autosomal recessive inheritance	5961	PRPH2	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6094	ROM1	OMIM:608133
HP:0000007	Autosomal recessive inheritance	6094	ROM1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:609465
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:271640
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:615349
HP:0000007	Autosomal recessive inheritance	79581	SLC52A2	OMIM:614707
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:268400
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:218600
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:266280
HP:0000007	Autosomal recessive inheritance	89910	UBE3B	OMIM:244450
HP:0000007	Autosomal recessive inheritance	55788	LMBRD1	OMIM:277380
HP:0000007	Autosomal recessive inheritance	169522	KCNV2	OMIM:610356
HP:0000007	Autosomal recessive inheritance	54476	RNF216	OMIM:212840
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:610357
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:201300
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:614213
HP:0000007	Autosomal recessive inheritance	771	CA12	OMIM:143860
HP:0000007	Autosomal recessive inheritance	25778	DSTYK	OMIM:270750
HP:0000007	Autosomal recessive inheritance	336	APOA2	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2053	EPHX2	OMIM:143890
HP:0000007	Autosomal recessive inheritance	10842	PPP1R17	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2690	GHR	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2690	GHR	OMIM:262500
HP:0000007	Autosomal recessive inheritance	3949	LDLR	OMIM:143890
HP:0000007	Autosomal recessive inheritance	353	APRT	OMIM:614723
HP:0000007	Autosomal recessive inheritance	8942	KYNU	OMIM:236800
HP:0000007	Autosomal recessive inheritance	8942	KYNU	OMIM:617661
HP:0000007	Autosomal recessive inheritance	55858	TMEM165	OMIM:614727
HP:0000007	Autosomal recessive inheritance	80254	CEP63	OMIM:614728
HP:0000007	Autosomal recessive inheritance	64087	MCCC2	OMIM:210210
HP:0000007	Autosomal recessive inheritance	658	BMPR1B	OMIM:609441
HP:0000007	Autosomal recessive inheritance	10518	CIB2	OMIM:609439
HP:0000007	Autosomal recessive inheritance	10518	CIB2	OMIM:614869
HP:0000007	Autosomal recessive inheritance	7374	UNG	OMIM:608106
HP:0000007	Autosomal recessive inheritance	50674	NEUROG3	OMIM:610370
HP:0000007	Autosomal recessive inheritance	1591	CYP24A1	OMIM:143880
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:613402
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:616267
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:605589
HP:0000007	Autosomal recessive inheritance	4598	MVK	OMIM:610377
HP:0000007	Autosomal recessive inheritance	4598	MVK	OMIM:260920
HP:0000007	Autosomal recessive inheritance	56922	MCCC1	OMIM:210200
HP:0000007	Autosomal recessive inheritance	63894	VIPAS39	OMIM:613404
HP:0000007	Autosomal recessive inheritance	79053	ALG8	OMIM:608104
HP:0000007	Autosomal recessive inheritance	84947	SERAC1	OMIM:614739
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:608105
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:605021
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:614617
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:220500
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:615338
HP:0000007	Autosomal recessive inheritance	23530	NNT	OMIM:614736
HP:0000007	Autosomal recessive inheritance	113278	SLC52A3	OMIM:211530
HP:0000007	Autosomal recessive inheritance	113278	SLC52A3	OMIM:211500
HP:0000007	Autosomal recessive inheritance	727857	BHLHA9	OMIM:609432
HP:0000007	Autosomal recessive inheritance	727857	BHLHA9	OMIM:607539
HP:0000007	Autosomal recessive inheritance	57217	TTC7A	OMIM:243150
HP:0000007	Autosomal recessive inheritance	51660	MPC1	OMIM:614741
HP:0000007	Autosomal recessive inheritance	6011	GRK1	OMIM:613411
HP:0000007	Autosomal recessive inheritance	3211	HOXB1	OMIM:614744
HP:0000007	Autosomal recessive inheritance	84720	PIGO	OMIM:614749
HP:0000007	Autosomal recessive inheritance	11128	POLR3A	OMIM:264090
HP:0000007	Autosomal recessive inheritance	11128	POLR3A	OMIM:607694
HP:0000007	Autosomal recessive inheritance	3675	ITGA3	OMIM:614748
HP:0000007	Autosomal recessive inheritance	80025	PANK2	OMIM:234200
HP:0000007	Autosomal recessive inheritance	80025	PANK2	OMIM:607236
HP:0000007	Autosomal recessive inheritance	23503	ZFYVE26	OMIM:270700
HP:0000007	Autosomal recessive inheritance	388939	PCARE	OMIM:613428
HP:0000007	Autosomal recessive inheritance	5241	PGR	OMIM:264080
HP:0000007	Autosomal recessive inheritance	5092	PCBD1	OMIM:264070
HP:0000007	Autosomal recessive inheritance	1374	CPT1A	OMIM:255120
HP:0000007	Autosomal recessive inheritance	10133	OPTN	OMIM:613435
HP:0000007	Autosomal recessive inheritance	6833	ABCC8	OMIM:256450
HP:0000007	Autosomal recessive inheritance	6833	ABCC8	OMIM:618857
HP:0000007	Autosomal recessive inheritance	3166	HMX1	OMIM:612109
HP:0000007	Autosomal recessive inheritance	147372	CCBE1	OMIM:235510
HP:0000007	Autosomal recessive inheritance	23479	ISCU	OMIM:255125
HP:0000007	Autosomal recessive inheritance	64241	ABCG8	OMIM:210250
HP:0000007	Autosomal recessive inheritance	54463	RETREG1	OMIM:201300
HP:0000007	Autosomal recessive inheritance	54463	RETREG1	OMIM:613115
HP:0000007	Autosomal recessive inheritance	65125	WNK1	OMIM:201300
HP:0000007	Autosomal recessive inheritance	6335	SCN9A	OMIM:201300
HP:0000007	Autosomal recessive inheritance	6335	SCN9A	OMIM:243000
HP:0000007	Autosomal recessive inheritance	9276	COPB2	OMIM:617800
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:255110
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:608836
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:600649
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:614212
HP:0000007	Autosomal recessive inheritance	220136	CFAP53	OMIM:614779
HP:0000007	Autosomal recessive inheritance	7407	VARS1	OMIM:617802
HP:0000007	Autosomal recessive inheritance	11181	TREH	OMIM:612119
HP:0000007	Autosomal recessive inheritance	3559	IL2RA	OMIM:606367
HP:0000007	Autosomal recessive inheritance	55703	POLR3B	OMIM:607694
HP:0000007	Autosomal recessive inheritance	55703	POLR3B	OMIM:614381
HP:0000007	Autosomal recessive inheritance	60529	ALX4	OMIM:613451
HP:0000007	Autosomal recessive inheritance	5269	SERPINB6	OMIM:613453
HP:0000007	Autosomal recessive inheritance	4688	NCF2	OMIM:233710
HP:0000007	Autosomal recessive inheritance	8733	GPAA1	OMIM:617810
HP:0000007	Autosomal recessive inheritance	8092	ALX1	OMIM:613456
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:606353
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:205100
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:607225
HP:0000007	Autosomal recessive inheritance	5279	PIGC	OMIM:617816
HP:0000007	Autosomal recessive inheritance	5745	PTH1R	OMIM:215045
HP:0000007	Autosomal recessive inheritance	5745	PTH1R	OMIM:600002
HP:0000007	Autosomal recessive inheritance	27329	ANGPTL3	OMIM:605019
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:216360
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:615991
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:607361
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:602152
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:610688
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:613550
HP:0000007	Autosomal recessive inheritance	84162	BLTP1	OMIM:617822
HP:0000007	Autosomal recessive inheritance	123016	TTC8	OMIM:613464
HP:0000007	Autosomal recessive inheritance	123016	TTC8	OMIM:615985
HP:0000007	Autosomal recessive inheritance	1806	DPYD	OMIM:274270
HP:0000007	Autosomal recessive inheritance	2902	GRIN1	OMIM:617820
HP:0000007	Autosomal recessive inheritance	2902	GRIN1	OMIM:619814
HP:0000007	Autosomal recessive inheritance	10587	TXNRD2	OMIM:617825
HP:0000007	Autosomal recessive inheritance	54820	NDE1	OMIM:605013
HP:0000007	Autosomal recessive inheritance	54820	NDE1	OMIM:614019
HP:0000007	Autosomal recessive inheritance	51135	IRAK4	OMIM:607676
HP:0000007	Autosomal recessive inheritance	9837	GINS1	OMIM:617827
HP:0000007	Autosomal recessive inheritance	10683	DLL3	OMIM:277300
HP:0000007	Autosomal recessive inheritance	145873	MESP2	OMIM:277300
HP:0000007	Autosomal recessive inheritance	145873	MESP2	OMIM:608681
HP:0000007	Autosomal recessive inheritance	2733	GLE1	OMIM:253310
HP:0000007	Autosomal recessive inheritance	2733	GLE1	OMIM:611890
HP:0000007	Autosomal recessive inheritance	2821	GPI	OMIM:613470
HP:0000007	Autosomal recessive inheritance	128338	DRAM2	OMIM:616502
HP:0000007	Autosomal recessive inheritance	10560	SLC19A2	OMIM:249270
HP:0000007	Autosomal recessive inheritance	388753	COA6	OMIM:616501
HP:0000007	Autosomal recessive inheritance	493753	COA5	OMIM:616500
HP:0000007	Autosomal recessive inheritance	91137	SLC25A46	OMIM:616505
HP:0000007	Autosomal recessive inheritance	91137	SLC25A46	OMIM:619303
HP:0000007	Autosomal recessive inheritance	57211	ADGRG6	OMIM:616503
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:616509
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:618275
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:618840
HP:0000007	Autosomal recessive inheritance	6678	SPARC	OMIM:616507
HP:0000007	Autosomal recessive inheritance	3784	KCNQ1	OMIM:220400
HP:0000007	Autosomal recessive inheritance	4982	TNFRSF11B	OMIM:239000
HP:0000007	Autosomal recessive inheritance	2632	GBE1	OMIM:263570
HP:0000007	Autosomal recessive inheritance	2632	GBE1	OMIM:232500
HP:0000007	Autosomal recessive inheritance	11315	PARK7	OMIM:606324
HP:0000007	Autosomal recessive inheritance	7286	TUFT1	OMIM:607655
HP:0000007	Autosomal recessive inheritance	4891	SLC11A2	OMIM:206100
HP:0000007	Autosomal recessive inheritance	22926	ATF6	OMIM:616517
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:616516
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:176670
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:605588
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:248370
HP:0000007	Autosomal recessive inheritance	25839	COG4	OMIM:613489
HP:0000007	Autosomal recessive inheritance	653361	NCF1	OMIM:233700
HP:0000007	Autosomal recessive inheritance	9750	RIPOR2	OMIM:616515
HP:0000007	Autosomal recessive inheritance	158326	FREM1	OMIM:608980
HP:0000007	Autosomal recessive inheritance	158326	FREM1	OMIM:248450
HP:0000007	Autosomal recessive inheritance	27019	DNAI1	OMIM:244400
HP:0000007	Autosomal recessive inheritance	5265	SERPINA1	OMIM:613490
HP:0000007	Autosomal recessive inheritance	930	CD19	OMIM:613493
HP:0000007	Autosomal recessive inheritance	930	CD19	OMIM:240500
HP:0000007	Autosomal recessive inheritance	26580	BSCL2	OMIM:269700
HP:0000007	Autosomal recessive inheritance	26580	BSCL2	OMIM:615924
HP:0000007	Autosomal recessive inheritance	931	MS4A1	OMIM:613495
HP:0000007	Autosomal recessive inheritance	115650	TNFRSF13C	OMIM:613494
HP:0000007	Autosomal recessive inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000007	Autosomal recessive inheritance	975	CD81	OMIM:613496
HP:0000007	Autosomal recessive inheritance	131669	UROC1	OMIM:276880
HP:0000007	Autosomal recessive inheritance	3575	IL7R	OMIM:608971
HP:0000007	Autosomal recessive inheritance	8022	LHX3	OMIM:221750
HP:0000007	Autosomal recessive inheritance	122553	TRAPPC6B	OMIM:617862
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:617866
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:617871
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:614099
HP:0000007	Autosomal recessive inheritance	50615	IL21R	OMIM:615207
HP:0000007	Autosomal recessive inheritance	57570	TRMT5	OMIM:616539
HP:0000007	Autosomal recessive inheritance	55612	FERMT1	OMIM:173650
HP:0000007	Autosomal recessive inheritance	1605	DAG1	OMIM:616538
HP:0000007	Autosomal recessive inheritance	1605	DAG1	OMIM:613818
HP:0000007	Autosomal recessive inheritance	84433	CARD11	OMIM:615206
HP:0000007	Autosomal recessive inheritance	9076	CLDN1	OMIM:607626
HP:0000007	Autosomal recessive inheritance	925	CD8A	OMIM:608957
HP:0000007	Autosomal recessive inheritance	10577	NPC2	OMIM:607625
HP:0000007	Autosomal recessive inheritance	5873	RAB27A	OMIM:607624
HP:0000007	Autosomal recessive inheritance	54802	TRIT1	OMIM:617873
HP:0000007	Autosomal recessive inheritance	7518	XRCC4	OMIM:616541
HP:0000007	Autosomal recessive inheritance	51081	MRPS7	OMIM:617872
HP:0000007	Autosomal recessive inheritance	84823	LMNB2	OMIM:616540
HP:0000007	Autosomal recessive inheritance	5295	PIK3R1	OMIM:615214
HP:0000007	Autosomal recessive inheritance	9786	KIAA0586	OMIM:616546
HP:0000007	Autosomal recessive inheritance	9786	KIAA0586	OMIM:616490
HP:0000007	Autosomal recessive inheritance	178	AGL	OMIM:232400
HP:0000007	Autosomal recessive inheritance	4724	NDUFS4	OMIM:252010
HP:0000007	Autosomal recessive inheritance	84700	MYO18B	OMIM:616549
HP:0000007	Autosomal recessive inheritance	8777	MPDZ	OMIM:615219
HP:0000007	Autosomal recessive inheritance	23533	PIK3R5	OMIM:615217
HP:0000007	Autosomal recessive inheritance	6389	SDHA	OMIM:252011
HP:0000007	Autosomal recessive inheritance	6389	SDHA	OMIM:613642
HP:0000007	Autosomal recessive inheritance	6609	SMPD1	OMIM:607616
HP:0000007	Autosomal recessive inheritance	6609	SMPD1	OMIM:257200
HP:0000007	Autosomal recessive inheritance	65057	ACD	OMIM:616553
HP:0000007	Autosomal recessive inheritance	672	BRCA1	OMIM:617883
HP:0000007	Autosomal recessive inheritance	7305	TYROBP	OMIM:221770
HP:0000007	Autosomal recessive inheritance	83452	RAB33B	OMIM:615222
HP:0000007	Autosomal recessive inheritance	7471	WNT1	OMIM:615220
HP:0000007	Autosomal recessive inheritance	80169	CTC1	OMIM:612199
HP:0000007	Autosomal recessive inheritance	7700	ZNF141	OMIM:615226
HP:0000007	Autosomal recessive inheritance	109	ADCY3	OMIM:617885
HP:0000007	Autosomal recessive inheritance	498	ATP5F1A	OMIM:615228
HP:0000007	Autosomal recessive inheritance	498	ATP5F1A	OMIM:616045
HP:0000007	Autosomal recessive inheritance	5130	PCYT1A	OMIM:608940
HP:0000007	Autosomal recessive inheritance	246329	STAC3	OMIM:255995
HP:0000007	Autosomal recessive inheritance	3689	ITGB2	OMIM:116920
HP:0000007	Autosomal recessive inheritance	7072	TIA1	OMIM:604454
HP:0000007	Autosomal recessive inheritance	4638	MYLK	OMIM:249210
HP:0000007	Autosomal recessive inheritance	229	ALDOB	OMIM:229600
HP:0000007	Autosomal recessive inheritance	9853	RUSC2	OMIM:617773
HP:0000007	Autosomal recessive inheritance	9860	LRIG2	OMIM:615112
HP:0000007	Autosomal recessive inheritance	4750	NEK1	OMIM:263520
HP:0000007	Autosomal recessive inheritance	84818	IL17RC	OMIM:616445
HP:0000007	Autosomal recessive inheritance	220	ALDH1A3	OMIM:615113
HP:0000007	Autosomal recessive inheritance	1355	COX15	OMIM:615119
HP:0000007	Autosomal recessive inheritance	81857	MED25	OMIM:616449
HP:0000007	Autosomal recessive inheritance	81857	MED25	OMIM:605589
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230600
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230650
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230500
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:253010
HP:0000007	Autosomal recessive inheritance	55733	HHAT	OMIM:600092
HP:0000007	Autosomal recessive inheritance	57165	GJC2	OMIM:608804
HP:0000007	Autosomal recessive inheritance	57165	GJC2	OMIM:613206
HP:0000007	Autosomal recessive inheritance	267010	RNU12	OMIM:603116
HP:0000007	Autosomal recessive inheritance	267010	RNU12	OMIM:620208
HP:0000007	Autosomal recessive inheritance	7259	TSPYL1	OMIM:608800
HP:0000007	Autosomal recessive inheritance	9742	IFT140	OMIM:617781
HP:0000007	Autosomal recessive inheritance	9742	IFT140	OMIM:266920
HP:0000007	Autosomal recessive inheritance	4522	MTHFD1	OMIM:617780
HP:0000007	Autosomal recessive inheritance	4522	MTHFD1	OMIM:601634
HP:0000007	Autosomal recessive inheritance	939	CD27	OMIM:615122
HP:0000007	Autosomal recessive inheritance	55159	RFWD3	OMIM:617784
HP:0000007	Autosomal recessive inheritance	8842	PROM1	OMIM:612095
HP:0000007	Autosomal recessive inheritance	8842	PROM1	OMIM:612657
HP:0000007	Autosomal recessive inheritance	375790	AGRN	OMIM:615120
HP:0000007	Autosomal recessive inheritance	25959	KANK2	OMIM:617783
HP:0000007	Autosomal recessive inheritance	25959	KANK2	OMIM:616099
HP:0000007	Autosomal recessive inheritance	200205	IBA57	OMIM:616451
HP:0000007	Autosomal recessive inheritance	200205	IBA57	OMIM:615330
HP:0000007	Autosomal recessive inheritance	790	CAD	OMIM:616457
HP:0000007	Autosomal recessive inheritance	54982	CLN6	OMIM:204300
HP:0000007	Autosomal recessive inheritance	54982	CLN6	OMIM:601780
HP:0000007	Autosomal recessive inheritance	28960	DCPS	OMIM:616459
HP:0000007	Autosomal recessive inheritance	120227	CYP2R1	OMIM:600081
HP:0000007	Autosomal recessive inheritance	51816	ADA2	OMIM:182410
HP:0000007	Autosomal recessive inheritance	51816	ADA2	OMIM:615688
HP:0000007	Autosomal recessive inheritance	10388	SYCP2	OMIM:258150
HP:0000007	Autosomal recessive inheritance	80153	EDC3	OMIM:616460
HP:0000007	Autosomal recessive inheritance	2937	GSS	OMIM:231900
HP:0000007	Autosomal recessive inheritance	2937	GSS	OMIM:266130
HP:0000007	Autosomal recessive inheritance	79797	ZNF408	OMIM:616469
HP:0000007	Autosomal recessive inheritance	152926	PPM1K	OMIM:615135
HP:0000007	Autosomal recessive inheritance	1303	COL12A1	OMIM:616470
HP:0000007	Autosomal recessive inheritance	57498	KIDINS220	OMIM:619501
HP:0000007	Autosomal recessive inheritance	55714	TENM3	OMIM:615145
HP:0000007	Autosomal recessive inheritance	246243	RNASEH1	OMIM:616479
HP:0000007	Autosomal recessive inheritance	5950	RBP4	OMIM:615147
HP:0000007	Autosomal recessive inheritance	8642	DCHS1	OMIM:601390
HP:0000007	Autosomal recessive inheritance	64072	CDH23	OMIM:601386
HP:0000007	Autosomal recessive inheritance	64072	CDH23	OMIM:601067
HP:0000007	Autosomal recessive inheritance	491	ATP2B2	OMIM:601386
HP:0000007	Autosomal recessive inheritance	83861	RSPH3	OMIM:616481
HP:0000007	Autosomal recessive inheritance	85301	COL27A1	OMIM:615155
HP:0000007	Autosomal recessive inheritance	84879	MFSD2A	OMIM:616486
HP:0000007	Autosomal recessive inheritance	27089	UQCRQ	OMIM:615159
HP:0000007	Autosomal recessive inheritance	1182	CLCN3	OMIM:619517
HP:0000007	Autosomal recessive inheritance	1001	CDH3	OMIM:225280
HP:0000007	Autosomal recessive inheritance	1001	CDH3	OMIM:601553
HP:0000007	Autosomal recessive inheritance	9453	GGPS1	OMIM:619518
HP:0000007	Autosomal recessive inheritance	54902	TTC19	OMIM:615157
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:250250
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:250460
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:607095
HP:0000007	Autosomal recessive inheritance	7381	UQCRB	OMIM:615158
HP:0000007	Autosomal recessive inheritance	59335	PRDM12	OMIM:616488
HP:0000007	Autosomal recessive inheritance	196385	DNAH10	OMIM:619515
HP:0000007	Autosomal recessive inheritance	150468	CKAP2L	OMIM:272440
HP:0000007	Autosomal recessive inheritance	8898	MTMR2	OMIM:601382
HP:0000007	Autosomal recessive inheritance	9533	POLR1C	OMIM:616494
HP:0000007	Autosomal recessive inheritance	9533	POLR1C	OMIM:248390
HP:0000007	Autosomal recessive inheritance	7385	UQCRC2	OMIM:615160
HP:0000007	Autosomal recessive inheritance	150274	HSCB	OMIM:619523
HP:0000007	Autosomal recessive inheritance	3972	LHB	OMIM:228300
HP:0000007	Autosomal recessive inheritance	154197	PNLDC1	OMIM:619528
HP:0000007	Autosomal recessive inheritance	9562	MINPP1	OMIM:619527
HP:0000007	Autosomal recessive inheritance	4353	MPO	OMIM:254600
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:605724
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:613029
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:155255
HP:0000007	Autosomal recessive inheritance	10280	SIGMAR1	OMIM:605726
HP:0000007	Autosomal recessive inheritance	10280	SIGMAR1	OMIM:614373
HP:0000007	Autosomal recessive inheritance	153201	SLC36A2	OMIM:242600
HP:0000007	Autosomal recessive inheritance	83723	TLCD3B	OMIM:619531
HP:0000007	Autosomal recessive inheritance	22906	TRAK1	OMIM:618201
HP:0000007	Autosomal recessive inheritance	79989	IFT56	OMIM:619534
HP:0000007	Autosomal recessive inheritance	83938	LRMDA	OMIM:615179
HP:0000007	Autosomal recessive inheritance	11152	WDR45	OMIM:615179
HP:0000007	Autosomal recessive inheritance	2678	GGT1	OMIM:231950
HP:0000007	Autosomal recessive inheritance	7476	WNT7A	OMIM:276820
HP:0000007	Autosomal recessive inheritance	7476	WNT7A	OMIM:228930
HP:0000007	Autosomal recessive inheritance	2317	FLNB	OMIM:272460
HP:0000007	Autosomal recessive inheritance	9496	TBX4	OMIM:601360
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:216340
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:612691
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:611228
HP:0000007	Autosomal recessive inheritance	148789	B3GALNT2	OMIM:615181
HP:0000007	Autosomal recessive inheritance	27247	NFU1	OMIM:605711
HP:0000007	Autosomal recessive inheritance	4883	NPR3	OMIM:619543
HP:0000007	Autosomal recessive inheritance	6576	SLC25A1	OMIM:615182
HP:0000007	Autosomal recessive inheritance	6576	SLC25A1	OMIM:618197
HP:0000007	Autosomal recessive inheritance	7040	TGFB1	OMIM:618213
HP:0000007	Autosomal recessive inheritance	7040	TGFB1	OMIM:219700
HP:0000007	Autosomal recessive inheritance	137392	CIBAR1	OMIM:618219
HP:0000007	Autosomal recessive inheritance	164	AP1G1	OMIM:619548
HP:0000007	Autosomal recessive inheritance	84888	SPPL2A	OMIM:619549
HP:0000007	Autosomal recessive inheritance	2879	GPX4	OMIM:250220
HP:0000007	Autosomal recessive inheritance	3912	LAMB1	OMIM:615191
HP:0000007	Autosomal recessive inheritance	2235	FECH	OMIM:177000
HP:0000007	Autosomal recessive inheritance	199713	NLRP7	OMIM:231090
HP:0000007	Autosomal recessive inheritance	51750	RTEL1	OMIM:615190
HP:0000007	Autosomal recessive inheritance	4728	NDUFS8	OMIM:618222
HP:0000007	Autosomal recessive inheritance	374291	NDUFS7	OMIM:618224
HP:0000007	Autosomal recessive inheritance	4723	NDUFV1	OMIM:618225
HP:0000007	Autosomal recessive inheritance	9785	DHX38	OMIM:618220
HP:0000007	Autosomal recessive inheritance	79705	LRRK1	OMIM:615198
HP:0000007	Autosomal recessive inheritance	57102	C12orf4	OMIM:618221
HP:0000007	Autosomal recessive inheritance	359	AQP2	OMIM:125800
HP:0000007	Autosomal recessive inheritance	4719	NDUFS1	OMIM:618226
HP:0000007	Autosomal recessive inheritance	55628	ZNF407	OMIM:619557
HP:0000007	Autosomal recessive inheritance	4720	NDUFS2	OMIM:618228
HP:0000007	Autosomal recessive inheritance	4729	NDUFV2	OMIM:618229
HP:0000007	Autosomal recessive inheritance	4179	CD46	OMIM:612922
HP:0000007	Autosomal recessive inheritance	23363	OBSL1	OMIM:612921
HP:0000007	Autosomal recessive inheritance	6916	TBXAS1	OMIM:231095
HP:0000007	Autosomal recessive inheritance	3848	KRT1	OMIM:113800
HP:0000007	Autosomal recessive inheritance	91942	NDUFAF2	OMIM:618233
HP:0000007	Autosomal recessive inheritance	6514	SLC2A2	OMIM:227810
HP:0000007	Autosomal recessive inheritance	84909	AOPEP	OMIM:619565
HP:0000007	Autosomal recessive inheritance	51103	NDUFAF1	OMIM:618234
HP:0000007	Autosomal recessive inheritance	3714	JAG2	OMIM:619566
HP:0000007	Autosomal recessive inheritance	4695	NDUFA2	OMIM:618235
HP:0000007	Autosomal recessive inheritance	126328	NDUFA11	OMIM:618236
HP:0000007	Autosomal recessive inheritance	51119	SBDS	OMIM:260400
HP:0000007	Autosomal recessive inheritance	6729	SRP54	OMIM:260400
HP:0000007	Autosomal recessive inheritance	4722	NDUFS3	OMIM:618230
HP:0000007	Autosomal recessive inheritance	219854	TMEM218	OMIM:619562
HP:0000007	Autosomal recessive inheritance	147138	TMC8	OMIM:618231
HP:0000007	Autosomal recessive inheritance	4726	NDUFS6	OMIM:618232
HP:0000007	Autosomal recessive inheritance	29078	NDUFAF4	OMIM:618237
HP:0000007	Autosomal recessive inheritance	79133	NDUFAF5	OMIM:618238
HP:0000007	Autosomal recessive inheritance	137682	NDUFAF6	OMIM:618239
HP:0000007	Autosomal recessive inheritance	137682	NDUFAF6	OMIM:618913
HP:0000007	Autosomal recessive inheritance	1130	LYST	OMIM:214500
HP:0000007	Autosomal recessive inheritance	3939	LDHA	OMIM:612933
HP:0000007	Autosomal recessive inheritance	2027	ENO3	OMIM:612932
HP:0000007	Autosomal recessive inheritance	54344	DPM3	OMIM:612937
HP:0000007	Autosomal recessive inheritance	54344	DPM3	OMIM:618992
HP:0000007	Autosomal recessive inheritance	9179	AP4M1	OMIM:612936
HP:0000007	Autosomal recessive inheritance	79944	L2HGDH	OMIM:236792
HP:0000007	Autosomal recessive inheritance	79068	FTO	OMIM:612938
HP:0000007	Autosomal recessive inheritance	55967	NDUFA12	OMIM:618244
HP:0000007	Autosomal recessive inheritance	4715	NDUFB9	OMIM:618245
HP:0000007	Autosomal recessive inheritance	56915	EXOSC5	OMIM:619576
HP:0000007	Autosomal recessive inheritance	4709	NDUFB3	OMIM:618246
HP:0000007	Autosomal recessive inheritance	4704	NDUFA9	OMIM:618247
HP:0000007	Autosomal recessive inheritance	25915	NDUFAF3	OMIM:618240
HP:0000007	Autosomal recessive inheritance	55572	FOXRED1	OMIM:618241
HP:0000007	Autosomal recessive inheritance	80224	NUBPL	OMIM:618242
HP:0000007	Autosomal recessive inheritance	50619	DEF6	OMIM:619573
HP:0000007	Autosomal recessive inheritance	4705	NDUFA10	OMIM:618243
HP:0000007	Autosomal recessive inheritance	7170	TPM3	OMIM:609284
HP:0000007	Autosomal recessive inheritance	7170	TPM3	OMIM:255310
HP:0000007	Autosomal recessive inheritance	5831	PYCR1	OMIM:612940
HP:0000007	Autosomal recessive inheritance	5831	PYCR1	OMIM:614438
HP:0000007	Autosomal recessive inheritance	123263	MTFMT	OMIM:618248
HP:0000007	Autosomal recessive inheritance	123263	MTFMT	OMIM:614947
HP:0000007	Autosomal recessive inheritance	51079	NDUFA13	OMIM:618249
HP:0000007	Autosomal recessive inheritance	9820	CUL7	OMIM:273750
HP:0000007	Autosomal recessive inheritance	92344	GORAB	OMIM:231070
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:611615
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:611588
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:613152
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:253800
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:236670
HP:0000007	Autosomal recessive inheritance	23203	PMPCA	OMIM:213200
HP:0000007	Autosomal recessive inheritance	8604	SLC25A12	OMIM:612949
HP:0000007	Autosomal recessive inheritance	55863	TMEM126B	OMIM:618250
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:267010
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:604387
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:208540
HP:0000007	Autosomal recessive inheritance	6795	AURKC	OMIM:243060
HP:0000007	Autosomal recessive inheritance	55814	BDP1	OMIM:618257
HP:0000007	Autosomal recessive inheritance	51300	TIMMDC1	OMIM:618251
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:619582
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:619585
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:617119
HP:0000007	Autosomal recessive inheritance	4714	NDUFB8	OMIM:618252
HP:0000007	Autosomal recessive inheritance	4700	NDUFA6	OMIM:618253
HP:0000007	Autosomal recessive inheritance	115399	LRRC56	OMIM:618254
HP:0000007	Autosomal recessive inheritance	8635	RNASET2	OMIM:612951
HP:0000007	Autosomal recessive inheritance	1200	TPP1	OMIM:609270
HP:0000007	Autosomal recessive inheritance	1200	TPP1	OMIM:204500
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:612953
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:610217
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:256600
HP:0000007	Autosomal recessive inheritance	25939	SAMHD1	OMIM:612952
HP:0000007	Autosomal recessive inheritance	9244	CRLF1	OMIM:272430
HP:0000007	Autosomal recessive inheritance	970	CD70	OMIM:618261
HP:0000007	Autosomal recessive inheritance	80347	COASY	OMIM:618266
HP:0000007	Autosomal recessive inheritance	80347	COASY	OMIM:615643
HP:0000007	Autosomal recessive inheritance	54507	ADAMTSL4	OMIM:225200
HP:0000007	Autosomal recessive inheritance	54507	ADAMTSL4	OMIM:225100
HP:0000007	Autosomal recessive inheritance	10519	CIB1	OMIM:618267
HP:0000007	Autosomal recessive inheritance	57003	CCDC47	OMIM:618268
HP:0000007	Autosomal recessive inheritance	3852	KRT5	OMIM:619599
HP:0000007	Autosomal recessive inheritance	10847	SRCAP	OMIM:619595
HP:0000007	Autosomal recessive inheritance	2312	FLG	OMIM:146700
HP:0000007	Autosomal recessive inheritance	374354	NHLRC2	OMIM:618278
HP:0000007	Autosomal recessive inheritance	64131	XYLT1	OMIM:264800
HP:0000007	Autosomal recessive inheritance	64131	XYLT1	OMIM:615777
HP:0000007	Autosomal recessive inheritance	368	ABCC6	OMIM:264800
HP:0000007	Autosomal recessive inheritance	368	ABCC6	OMIM:614473
HP:0000007	Autosomal recessive inheritance	23287	AGTPBP1	OMIM:618276
HP:0000007	Autosomal recessive inheritance	64093	SMOC1	OMIM:206920
HP:0000007	Autosomal recessive inheritance	23529	CLCF1	OMIM:610313
HP:0000007	Autosomal recessive inheritance	60681	FKBP10	OMIM:259450
HP:0000007	Autosomal recessive inheritance	60681	FKBP10	OMIM:610968
HP:0000007	Autosomal recessive inheritance	9657	IQCB1	OMIM:609254
HP:0000007	Autosomal recessive inheritance	84905	ZNF341	OMIM:618282
HP:0000007	Autosomal recessive inheritance	4140	MARK3	OMIM:618283
HP:0000007	Autosomal recessive inheritance	3739	KCNA4	OMIM:618284
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:201250
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:200700
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:615072
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:228900
HP:0000007	Autosomal recessive inheritance	4668	NAGA	OMIM:609241
HP:0000007	Autosomal recessive inheritance	4668	NAGA	OMIM:609242
HP:0000007	Autosomal recessive inheritance	9487	PIGL	OMIM:280000
HP:0000007	Autosomal recessive inheritance	5479	PPIB	OMIM:259440
HP:0000007	Autosomal recessive inheritance	84233	TMEM126A	OMIM:612989
HP:0000007	Autosomal recessive inheritance	84153	RNASEH2C	OMIM:610329
HP:0000007	Autosomal recessive inheritance	1795	DOCK3	OMIM:618292
HP:0000007	Autosomal recessive inheritance	5257	PHKB	OMIM:261750
HP:0000007	Autosomal recessive inheritance	8665	EIF3F	OMIM:618295
HP:0000007	Autosomal recessive inheritance	10535	RNASEH2A	OMIM:610333
HP:0000007	Autosomal recessive inheritance	117155	CATSPER2	OMIM:612997
HP:0000007	Autosomal recessive inheritance	117155	CATSPER2	OMIM:611102
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:612997
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:603720
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:611102
HP:0000007	Autosomal recessive inheritance	117144	CATSPER1	OMIM:612997
HP:0000007	Autosomal recessive inheritance	6295	SAG	OMIM:258100
HP:0000007	Autosomal recessive inheritance	6295	SAG	OMIM:613758
HP:0000007	Autosomal recessive inheritance	1534	CYB561	OMIM:618182
HP:0000007	Autosomal recessive inheritance	83483	PLVAP	OMIM:618183
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:618180
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:620173
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:614861
HP:0000007	Autosomal recessive inheritance	79717	PPCS	OMIM:618189
HP:0000007	Autosomal recessive inheritance	8506	CNTNAP1	OMIM:618186
HP:0000007	Autosomal recessive inheritance	8506	CNTNAP1	OMIM:616286
HP:0000007	Autosomal recessive inheritance	55503	TRPV6	OMIM:618188
HP:0000007	Autosomal recessive inheritance	80821	DDHD1	OMIM:609340
HP:0000007	Autosomal recessive inheritance	494513	PJVK	OMIM:610220
HP:0000007	Autosomal recessive inheritance	84515	MCM8	OMIM:612885
HP:0000007	Autosomal recessive inheritance	8195	MKKS	OMIM:236700
HP:0000007	Autosomal recessive inheritance	8195	MKKS	OMIM:605231
HP:0000007	Autosomal recessive inheritance	2997	GYS1	OMIM:611556
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:253280
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:613151
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:613157
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:617123
HP:0000007	Autosomal recessive inheritance	3291	HSD11B2	OMIM:218030
HP:0000007	Autosomal recessive inheritance	5111	PCNA	OMIM:615919
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:608013
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:231005
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:231000
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:230900
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:230800
HP:0000007	Autosomal recessive inheritance	57176	VARS2	OMIM:615917
HP:0000007	Autosomal recessive inheritance	80222	TARS2	OMIM:615918
HP:0000007	Autosomal recessive inheritance	54209	TREM2	OMIM:618193
HP:0000007	Autosomal recessive inheritance	49855	SCAPER	OMIM:618195
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:245660
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:226700
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:619784
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:619783
HP:0000007	Autosomal recessive inheritance	4649	MYO9A	OMIM:618198
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:611561
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:611560
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:619113
HP:0000007	Autosomal recessive inheritance	3141	HLCS	OMIM:253270
HP:0000007	Autosomal recessive inheritance	25782	RAB3GAP2	OMIM:212720
HP:0000007	Autosomal recessive inheritance	25782	RAB3GAP2	OMIM:614225
HP:0000007	Autosomal recessive inheritance	9915	ARNT2	OMIM:615926
HP:0000007	Autosomal recessive inheritance	2693	GHSR	OMIM:615925
HP:0000007	Autosomal recessive inheritance	4868	NPHS1	OMIM:256300
HP:0000007	Autosomal recessive inheritance	7827	NPHS2	OMIM:600995
HP:0000007	Autosomal recessive inheritance	348	APOE	OMIM:269600
HP:0000007	Autosomal recessive inheritance	6499	SKIC2	OMIM:614602
HP:0000007	Autosomal recessive inheritance	686	BTD	OMIM:253260
HP:0000007	Autosomal recessive inheritance	3117	HLA-DQA1	OMIM:212750
HP:0000007	Autosomal recessive inheritance	3119	HLA-DQB1	OMIM:212750
HP:0000007	Autosomal recessive inheritance	256297	PTF1A	OMIM:615935
HP:0000007	Autosomal recessive inheritance	256297	PTF1A	OMIM:609069
HP:0000007	Autosomal recessive inheritance	7840	ALMS1	OMIM:203800
HP:0000007	Autosomal recessive inheritance	4591	TRIM37	OMIM:253250
HP:0000007	Autosomal recessive inheritance	2301	FOXE3	OMIM:610256
HP:0000007	Autosomal recessive inheritance	124512	METTL23	OMIM:615942
HP:0000007	Autosomal recessive inheritance	26005	C2CD3	OMIM:615948
HP:0000007	Autosomal recessive inheritance	9152	SLC6A5	OMIM:614618
HP:0000007	Autosomal recessive inheritance	65250	CPLANE1	OMIM:614615
HP:0000007	Autosomal recessive inheritance	65250	CPLANE1	OMIM:277170
HP:0000007	Autosomal recessive inheritance	338328	GPIHBP1	OMIM:615947
HP:0000007	Autosomal recessive inheritance	1174	AP1S1	OMIM:609313
HP:0000007	Autosomal recessive inheritance	121512	FGD4	OMIM:609311
HP:0000007	Autosomal recessive inheritance	7915	ALDH5A1	OMIM:271980
HP:0000007	Autosomal recessive inheritance	2743	GLRB	OMIM:614619
HP:0000007	Autosomal recessive inheritance	129563	DIS3L2	OMIM:267000
HP:0000007	Autosomal recessive inheritance	117531	TMC1	OMIM:600974
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:609308
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:613155
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:236670
HP:0000007	Autosomal recessive inheritance	443	ASPA	OMIM:271900
HP:0000007	Autosomal recessive inheritance	259236	TMIE	OMIM:600971
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:600972
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:256050
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:222600
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:226900
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:224750
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:257980
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:150400
HP:0000007	Autosomal recessive inheritance	7010	TEK	OMIM:600975
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:600975
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:231300
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:617315
HP:0000007	Autosomal recessive inheritance	6521	SLC4A1	OMIM:611590
HP:0000007	Autosomal recessive inheritance	222662	LHFPL5	OMIM:610265
HP:0000007	Autosomal recessive inheritance	10290	SPEG	OMIM:615959
HP:0000007	Autosomal recessive inheritance	79751	SLC25A22	OMIM:609304
HP:0000007	Autosomal recessive inheritance	9719	ADAMTSL2	OMIM:231050
HP:0000007	Autosomal recessive inheritance	9321	TRIP11	OMIM:184260
HP:0000007	Autosomal recessive inheritance	9321	TRIP11	OMIM:200600
HP:0000007	Autosomal recessive inheritance	284217	LAMA1	OMIM:615960
HP:0000007	Autosomal recessive inheritance	5591	PRKDC	OMIM:615966
HP:0000007	Autosomal recessive inheritance	286262	TPRN	OMIM:613307
HP:0000007	Autosomal recessive inheritance	7443	VRK1	OMIM:607596
HP:0000007	Autosomal recessive inheritance	64902	AGXT2	OMIM:210100
HP:0000007	Autosomal recessive inheritance	174	AFP	OMIM:615969
HP:0000007	Autosomal recessive inheritance	29851	ICOS	OMIM:607594
HP:0000007	Autosomal recessive inheritance	29851	ICOS	OMIM:240500
HP:0000007	Autosomal recessive inheritance	4920	ROR2	OMIM:268310
HP:0000007	Autosomal recessive inheritance	5122	PCSK1	OMIM:600955
HP:0000007	Autosomal recessive inheritance	50484	RRM2B	OMIM:268315
HP:0000007	Autosomal recessive inheritance	50484	RRM2B	OMIM:612075
HP:0000007	Autosomal recessive inheritance	64218	SEMA4A	OMIM:610282
HP:0000007	Autosomal recessive inheritance	64218	SEMA4A	OMIM:610283
HP:0000007	Autosomal recessive inheritance	282809	POC1B	OMIM:615973
HP:0000007	Autosomal recessive inheritance	729920	CRPPA	OMIM:614643
HP:0000007	Autosomal recessive inheritance	729920	CRPPA	OMIM:616052
HP:0000007	Autosomal recessive inheritance	2059	EPS8	OMIM:615974
HP:0000007	Autosomal recessive inheritance	57654	UVSSA	OMIM:614640
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:613312
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:208000
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:601665
HP:0000007	Autosomal recessive inheritance	57817	HAMP	OMIM:613313
HP:0000007	Autosomal recessive inheritance	1535	CYBA	OMIM:233690
HP:0000007	Autosomal recessive inheritance	79791	FBXO31	OMIM:615979
HP:0000007	Autosomal recessive inheritance	203859	ANO5	OMIM:613319
HP:0000007	Autosomal recessive inheritance	203859	ANO5	OMIM:611307
HP:0000007	Autosomal recessive inheritance	157570	ESCO2	OMIM:268300
HP:0000007	Autosomal recessive inheritance	157570	ESCO2	OMIM:216100
HP:0000007	Autosomal recessive inheritance	23636	NUP62	OMIM:271930
HP:0000007	Autosomal recessive inheritance	9775	EIF4A3	OMIM:268305
HP:0000007	Autosomal recessive inheritance	3991	LIPE	OMIM:615980
HP:0000007	Autosomal recessive inheritance	51004	COQ6	OMIM:614650
HP:0000007	Autosomal recessive inheritance	93183	PIGM	OMIM:610293
HP:0000007	Autosomal recessive inheritance	55212	BBS7	OMIM:615984
HP:0000007	Autosomal recessive inheritance	667	DST	OMIM:614653
HP:0000007	Autosomal recessive inheritance	667	DST	OMIM:615425
HP:0000007	Autosomal recessive inheritance	57017	COQ9	OMIM:614654
HP:0000007	Autosomal recessive inheritance	51025	PAM16	OMIM:613320
HP:0000007	Autosomal recessive inheritance	585	BBS4	OMIM:615982
HP:0000007	Autosomal recessive inheritance	23590	PDSS1	OMIM:614651
HP:0000007	Autosomal recessive inheritance	129880	BBS5	OMIM:615983
HP:0000007	Autosomal recessive inheritance	57107	PDSS2	OMIM:614652
HP:0000007	Autosomal recessive inheritance	22954	TRIM32	OMIM:615988
HP:0000007	Autosomal recessive inheritance	22954	TRIM32	OMIM:254110
HP:0000007	Autosomal recessive inheritance	166379	BBS12	OMIM:615989
HP:0000007	Autosomal recessive inheritance	27241	BBS9	OMIM:615986
HP:0000007	Autosomal recessive inheritance	1146	CHRNG	OMIM:253290
HP:0000007	Autosomal recessive inheritance	1146	CHRNG	OMIM:265000
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:253290
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:616322
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:616323
HP:0000007	Autosomal recessive inheritance	284119	CAVIN1	OMIM:613327
HP:0000007	Autosomal recessive inheritance	79738	BBS10	OMIM:615987
HP:0000007	Autosomal recessive inheritance	5054	SERPINE1	OMIM:613329
HP:0000007	Autosomal recessive inheritance	90417	KNSTRN	OMIM:613328
HP:0000007	Autosomal recessive inheritance	5293	PIK3CD	OMIM:613328
HP:0000007	Autosomal recessive inheritance	5293	PIK3CD	OMIM:619281
HP:0000007	Autosomal recessive inheritance	60495	HPSE2	OMIM:236730
HP:0000007	Autosomal recessive inheritance	3075	CFH	OMIM:235400
HP:0000007	Autosomal recessive inheritance	3075	CFH	OMIM:609814
HP:0000007	Autosomal recessive inheritance	3078	CFHR1	OMIM:235400
HP:0000007	Autosomal recessive inheritance	10878	CFHR3	OMIM:235400
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:212780
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:616304
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:614305
HP:0000007	Autosomal recessive inheritance	1738	DLD	OMIM:246900
HP:0000007	Autosomal recessive inheritance	201294	UNC13D	OMIM:608898
HP:0000007	Autosomal recessive inheritance	51057	WDPCP	OMIM:615992
HP:0000007	Autosomal recessive inheritance	51057	WDPCP	OMIM:217085
HP:0000007	Autosomal recessive inheritance	579	NKX3-2	OMIM:613330
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:615990
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:617121
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:249000
HP:0000007	Autosomal recessive inheritance	5193	PEX12	OMIM:266510
HP:0000007	Autosomal recessive inheritance	5193	PEX12	OMIM:614859
HP:0000007	Autosomal recessive inheritance	92482	BBIP1	OMIM:615995
HP:0000007	Autosomal recessive inheritance	11020	IFT27	OMIM:615996
HP:0000007	Autosomal recessive inheritance	2984	GUCY2C	OMIM:614665
HP:0000007	Autosomal recessive inheritance	10806	SDCCAG8	OMIM:615993
HP:0000007	Autosomal recessive inheritance	10806	SDCCAG8	OMIM:613615
HP:0000007	Autosomal recessive inheritance	54585	LZTFL1	OMIM:615994
HP:0000007	Autosomal recessive inheritance	213	ALB	OMIM:615999
HP:0000007	Autosomal recessive inheritance	213	ALB	OMIM:616000
HP:0000007	Autosomal recessive inheritance	5332	PLCB4	OMIM:614669
HP:0000007	Autosomal recessive inheritance	411	ARSB	OMIM:253200
HP:0000007	Autosomal recessive inheritance	91179	SCARF2	OMIM:600920
HP:0000007	Autosomal recessive inheritance	5264	PHYH	OMIM:266500
HP:0000007	Autosomal recessive inheritance	57798	GATAD1	OMIM:614672
HP:0000007	Autosomal recessive inheritance	9227	LRAT	OMIM:613341
HP:0000007	Autosomal recessive inheritance	9227	LRAT	OMIM:268000
HP:0000007	Autosomal recessive inheritance	10525	HYOU1	OMIM:233600
HP:0000007	Autosomal recessive inheritance	9662	CEP135	OMIM:614673
HP:0000007	Autosomal recessive inheritance	3459	IFNGR1	OMIM:209950
HP:0000007	Autosomal recessive inheritance	388389	CCDC103	OMIM:614679
HP:0000007	Autosomal recessive inheritance	56997	COQ8A	OMIM:612016
HP:0000007	Autosomal recessive inheritance	91869	RFT1	OMIM:612015
HP:0000007	Autosomal recessive inheritance	51010	EXOSC3	OMIM:614678
HP:0000007	Autosomal recessive inheritance	11093	ADAMTS13	OMIM:274150
HP:0000007	Autosomal recessive inheritance	6301	SARS1	OMIM:617709
HP:0000007	Autosomal recessive inheritance	56155	TEX14	OMIM:617707
HP:0000007	Autosomal recessive inheritance	254528	MEIOB	OMIM:617706
HP:0000007	Autosomal recessive inheritance	26224	FBXL3	OMIM:606220
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:612020
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:245800
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:215470
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:275400
HP:0000007	Autosomal recessive inheritance	10352	WARS2	OMIM:617710
HP:0000007	Autosomal recessive inheritance	10352	WARS2	OMIM:619738
HP:0000007	Autosomal recessive inheritance	708	C1QBP	OMIM:617713
HP:0000007	Autosomal recessive inheritance	124583	CANT1	OMIM:617719
HP:0000007	Autosomal recessive inheritance	124583	CANT1	OMIM:251450
HP:0000007	Autosomal recessive inheritance	10095	ARPC1B	OMIM:617718
HP:0000007	Autosomal recessive inheritance	2232	FDXR	OMIM:617717
HP:0000007	Autosomal recessive inheritance	2178	FANCE	OMIM:600901
HP:0000007	Autosomal recessive inheritance	3758	KCNJ1	OMIM:241200
HP:0000007	Autosomal recessive inheritance	55750	AGK	OMIM:614691
HP:0000007	Autosomal recessive inheritance	55750	AGK	OMIM:212350
HP:0000007	Autosomal recessive inheritance	1380	CR2	OMIM:614699
HP:0000007	Autosomal recessive inheritance	1380	CR2	OMIM:240500
HP:0000007	Autosomal recessive inheritance	55644	OSGEP	OMIM:617729
HP:0000007	Autosomal recessive inheritance	4352	MPL	OMIM:604498
HP:0000007	Autosomal recessive inheritance	112858	TP53RK	OMIM:617730
HP:0000007	Autosomal recessive inheritance	163786	SASS6	OMIM:616402
HP:0000007	Autosomal recessive inheritance	2548	GAA	OMIM:232300
HP:0000007	Autosomal recessive inheritance	51002	TPRKB	OMIM:617731
HP:0000007	Autosomal recessive inheritance	83737	ITCH	OMIM:613385
HP:0000007	Autosomal recessive inheritance	197135	PATL2	OMIM:617743
HP:0000007	Autosomal recessive inheritance	6569	SLC34A1	OMIM:613388
HP:0000007	Autosomal recessive inheritance	6569	SLC34A1	OMIM:616963
HP:0000007	Autosomal recessive inheritance	54805	CNNM2	OMIM:616418
HP:0000007	Autosomal recessive inheritance	4913	NTHL1	OMIM:616415
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:608840
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:613154
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:236670
HP:0000007	Autosomal recessive inheritance	29929	ALG6	OMIM:603147
HP:0000007	Autosomal recessive inheritance	5889	RAD51C	OMIM:613390
HP:0000007	Autosomal recessive inheritance	374462	PTPRQ	OMIM:613391
HP:0000007	Autosomal recessive inheritance	29920	PYCR2	OMIM:616420
HP:0000007	Autosomal recessive inheritance	3889	KRT83	OMIM:617756
HP:0000007	Autosomal recessive inheritance	1663	DDX11	OMIM:613398
HP:0000007	Autosomal recessive inheritance	8575	PRKRA	OMIM:612067
HP:0000007	Autosomal recessive inheritance	2990	GUSB	OMIM:253220
HP:0000007	Autosomal recessive inheritance	51684	SUFU	OMIM:617757
HP:0000007	Autosomal recessive inheritance	51684	SUFU	OMIM:155255
HP:0000007	Autosomal recessive inheritance	9469	CHST3	OMIM:245600
HP:0000007	Autosomal recessive inheritance	9469	CHST3	OMIM:143095
HP:0000007	Autosomal recessive inheritance	26229	B3GAT3	OMIM:245600
HP:0000007	Autosomal recessive inheritance	23404	EXOSC2	OMIM:617763
HP:0000007	Autosomal recessive inheritance	55331	ACER3	OMIM:617762
HP:0000007	Autosomal recessive inheritance	8803	SUCLA2	OMIM:612073
HP:0000007	Autosomal recessive inheritance	153241	CEP120	OMIM:617761
HP:0000007	Autosomal recessive inheritance	153241	CEP120	OMIM:616300
HP:0000007	Autosomal recessive inheritance	92935	MARS2	OMIM:616430
HP:0000007	Autosomal recessive inheritance	92935	MARS2	OMIM:611390
HP:0000007	Autosomal recessive inheritance	56606	SLC2A9	OMIM:612076
HP:0000007	Autosomal recessive inheritance	51776	MAP3K20	OMIM:617760
HP:0000007	Autosomal recessive inheritance	51776	MAP3K20	OMIM:616890
HP:0000007	Autosomal recessive inheritance	10464	PIBF1	OMIM:617767
HP:0000007	Autosomal recessive inheritance	29089	UBE2T	OMIM:616435
HP:0000007	Autosomal recessive inheritance	7372	UMPS	OMIM:258900
HP:0000007	Autosomal recessive inheritance	1794	DOCK2	OMIM:616433
HP:0000007	Autosomal recessive inheritance	55131	RBM28	OMIM:612079
HP:0000007	Autosomal recessive inheritance	6647	SOD1	OMIM:105400
HP:0000007	Autosomal recessive inheritance	6647	SOD1	OMIM:618598
HP:0000007	Autosomal recessive inheritance	5630	PRPH	OMIM:105400
HP:0000007	Autosomal recessive inheritance	1639	DCTN1	OMIM:105400
HP:0000007	Autosomal recessive inheritance	4744	NEFH	OMIM:105400
HP:0000007	Autosomal recessive inheritance	9990	SLC12A6	OMIM:218000
HP:0000007	Autosomal recessive inheritance	261734	NPHP4	OMIM:606996
HP:0000007	Autosomal recessive inheritance	261734	NPHP4	OMIM:606966
HP:0000007	Autosomal recessive inheritance	6555	SLC10A2	OMIM:613291
HP:0000007	Autosomal recessive inheritance	3071	NCKAP1L	OMIM:618982
HP:0000007	Autosomal recessive inheritance	3998	LMAN1	OMIM:227300
HP:0000007	Autosomal recessive inheritance	4593	MUSK	OMIM:616325
HP:0000007	Autosomal recessive inheritance	4593	MUSK	OMIM:208150
HP:0000007	Autosomal recessive inheritance	4919	ROR1	OMIM:617654
HP:0000007	Autosomal recessive inheritance	5880	RAC2	OMIM:618987
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:253601
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:606768
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:254130
HP:0000007	Autosomal recessive inheritance	825	CAPN3	OMIM:253600
HP:0000007	Autosomal recessive inheritance	4552	MTRR	OMIM:236270
HP:0000007	Autosomal recessive inheritance	4552	MTRR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	23498	HAAO	OMIM:617660
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:266900
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:609583
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:256100
HP:0000007	Autosomal recessive inheritance	65993	MRPS34	OMIM:617664
HP:0000007	Autosomal recessive inheritance	1584	CYP11B1	OMIM:202010
HP:0000007	Autosomal recessive inheritance	64412	GZF1	OMIM:617662
HP:0000007	Autosomal recessive inheritance	387787	LIPT2	OMIM:617668
HP:0000007	Autosomal recessive inheritance	6487	ST3GAL3	OMIM:615006
HP:0000007	Autosomal recessive inheritance	6487	ST3GAL3	OMIM:611090
HP:0000007	Autosomal recessive inheritance	23426	GRIP1	OMIM:617667
HP:0000007	Autosomal recessive inheritance	27229	TUBGCP4	OMIM:616335
HP:0000007	Autosomal recessive inheritance	341640	FREM2	OMIM:617666
HP:0000007	Autosomal recessive inheritance	341640	FREM2	OMIM:123570
HP:0000007	Autosomal recessive inheritance	10686	CLDN16	OMIM:248250
HP:0000007	Autosomal recessive inheritance	51112	TRAPPC12	OMIM:617669
HP:0000007	Autosomal recessive inheritance	8526	DGKE	OMIM:615008
HP:0000007	Autosomal recessive inheritance	3508	IGHMBP2	OMIM:604320
HP:0000007	Autosomal recessive inheritance	3508	IGHMBP2	OMIM:616155
HP:0000007	Autosomal recessive inheritance	57082	KNL1	OMIM:604321
HP:0000007	Autosomal recessive inheritance	55650	PIGV	OMIM:239300
HP:0000007	Autosomal recessive inheritance	284403	WDR62	OMIM:604317
HP:0000007	Autosomal recessive inheritance	6444	SGCD	OMIM:601287
HP:0000007	Autosomal recessive inheritance	2212	FCGR2A	OMIM:219700
HP:0000007	Autosomal recessive inheritance	1080	CFTR	OMIM:219700
HP:0000007	Autosomal recessive inheritance	1080	CFTR	OMIM:277180
HP:0000007	Autosomal recessive inheritance	9071	CLDN10	OMIM:617671
HP:0000007	Autosomal recessive inheritance	55154	MSTO1	OMIM:617675
HP:0000007	Autosomal recessive inheritance	103	ADAR	OMIM:615010
HP:0000007	Autosomal recessive inheritance	1020	CDK5	OMIM:616342
HP:0000007	Autosomal recessive inheritance	54757	FAM20A	OMIM:204690
HP:0000007	Autosomal recessive inheritance	85007	PHYKPL	OMIM:615011
HP:0000007	Autosomal recessive inheritance	3665	IRF7	OMIM:616345
HP:0000007	Autosomal recessive inheritance	26154	ABCA12	OMIM:601277
HP:0000007	Autosomal recessive inheritance	26154	ABCA12	OMIM:242500
HP:0000007	Autosomal recessive inheritance	4620	MYH2	OMIM:605637
HP:0000007	Autosomal recessive inheritance	4524	MTHFR	OMIM:236250
HP:0000007	Autosomal recessive inheritance	4524	MTHFR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	567	B2M	OMIM:241600
HP:0000007	Autosomal recessive inheritance	204219	CERS3	OMIM:615023
HP:0000007	Autosomal recessive inheritance	57231	SNX14	OMIM:616354
HP:0000007	Autosomal recessive inheritance	285848	PNPLA1	OMIM:615024
HP:0000007	Autosomal recessive inheritance	5073	PARN	OMIM:616353
HP:0000007	Autosomal recessive inheritance	23086	EXPH5	OMIM:615028
HP:0000007	Autosomal recessive inheritance	950	SCARB2	OMIM:254900
HP:0000007	Autosomal recessive inheritance	81794	ADAMTS10	OMIM:277600
HP:0000007	Autosomal recessive inheritance	113612	CYP2U1	OMIM:615030
HP:0000007	Autosomal recessive inheritance	9895	TECPR2	OMIM:615031
HP:0000007	Autosomal recessive inheritance	402381	SOHLH1	OMIM:617690
HP:0000007	Autosomal recessive inheritance	91574	MTRFR	OMIM:615035
HP:0000007	Autosomal recessive inheritance	91574	MTRFR	OMIM:613559
HP:0000007	Autosomal recessive inheritance	55773	TBC1D23	OMIM:617695
HP:0000007	Autosomal recessive inheritance	8558	CDK10	OMIM:617694
HP:0000007	Autosomal recessive inheritance	23259	DDHD2	OMIM:615033
HP:0000007	Autosomal recessive inheritance	92609	TIMM50	OMIM:617698
HP:0000007	Autosomal recessive inheritance	5836	PYGL	OMIM:232700
HP:0000007	Autosomal recessive inheritance	58	ACTA1	OMIM:161800
HP:0000007	Autosomal recessive inheritance	7173	TPO	OMIM:274500
HP:0000007	Autosomal recessive inheritance	6101	RP1	OMIM:180100
HP:0000007	Autosomal recessive inheritance	124590	USH1G	OMIM:606943
HP:0000007	Autosomal recessive inheritance	10329	RXYLT1	OMIM:615041
HP:0000007	Autosomal recessive inheritance	8818	DPM2	OMIM:615042
HP:0000007	Autosomal recessive inheritance	122961	ISCA2	OMIM:616370
HP:0000007	Autosomal recessive inheritance	83636	C19orf12	OMIM:615043
HP:0000007	Autosomal recessive inheritance	83636	C19orf12	OMIM:614298
HP:0000007	Autosomal recessive inheritance	3579	CXCR2	OMIM:619407
HP:0000007	Autosomal recessive inheritance	10531	PITRM1	OMIM:619405
HP:0000007	Autosomal recessive inheritance	3773	KCNJ16	OMIM:619406
HP:0000007	Autosomal recessive inheritance	4351	MPI	OMIM:602579
HP:0000007	Autosomal recessive inheritance	326	AIRE	OMIM:240300
HP:0000007	Autosomal recessive inheritance	8565	YARS1	OMIM:619418
HP:0000007	Autosomal recessive inheritance	345193	LRIT3	OMIM:615058
HP:0000007	Autosomal recessive inheritance	5741	PTH	OMIM:146200
HP:0000007	Autosomal recessive inheritance	2779	GNAT1	OMIM:616389
HP:0000007	Autosomal recessive inheritance	286204	CRB2	OMIM:219730
HP:0000007	Autosomal recessive inheritance	286204	CRB2	OMIM:616220
HP:0000007	Autosomal recessive inheritance	1967	EIF2B1	OMIM:603896
HP:0000007	Autosomal recessive inheritance	2697	GJA1	OMIM:218400
HP:0000007	Autosomal recessive inheritance	2697	GJA1	OMIM:257850
HP:0000007	Autosomal recessive inheritance	5959	RDH5	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6010	RHO	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6010	RHO	OMIM:613731
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:607476
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:607475
HP:0000007	Autosomal recessive inheritance	2071	ERCC3	OMIM:616390
HP:0000007	Autosomal recessive inheritance	2071	ERCC3	OMIM:610651
HP:0000007	Autosomal recessive inheritance	85300	ATCAY	OMIM:601238
HP:0000007	Autosomal recessive inheritance	404672	GTF2H5	OMIM:616395
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:616394
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:619471
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:615630
HP:0000007	Autosomal recessive inheritance	10533	ATG7	OMIM:619422
HP:0000007	Autosomal recessive inheritance	205327	C2orf69	OMIM:619423
HP:0000007	Autosomal recessive inheritance	4633	MYL2	OMIM:619424
HP:0000007	Autosomal recessive inheritance	93233	ODAD1	OMIM:615067
HP:0000007	Autosomal recessive inheritance	9427	ECEL1	OMIM:615065
HP:0000007	Autosomal recessive inheritance	55151	TMEM38B	OMIM:615066
HP:0000007	Autosomal recessive inheritance	344	APOC2	OMIM:207750
HP:0000007	Autosomal recessive inheritance	2583	B4GALNT1	OMIM:609195
HP:0000007	Autosomal recessive inheritance	11232	POLG2	OMIM:619425
HP:0000007	Autosomal recessive inheritance	11232	POLG2	OMIM:618528
HP:0000007	Autosomal recessive inheritance	389827	MYMK	OMIM:254940
HP:0000007	Autosomal recessive inheritance	51574	LARP7	OMIM:615071
HP:0000007	Autosomal recessive inheritance	65992	DDRGK1	OMIM:602557
HP:0000007	Autosomal recessive inheritance	10112	KIF20A	OMIM:619433
HP:0000007	Autosomal recessive inheritance	84894	LINGO1	OMIM:618103
HP:0000007	Autosomal recessive inheritance	10765	KDM5B	OMIM:618109
HP:0000007	Autosomal recessive inheritance	27148	STK36	OMIM:619436
HP:0000007	Autosomal recessive inheritance	9526	MPDU1	OMIM:609180
HP:0000007	Autosomal recessive inheritance	8737	RIPK1	OMIM:618108
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:258450
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:607459
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:603041
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:203700
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:613662
HP:0000007	Autosomal recessive inheritance	1120	CHKB	OMIM:602541
HP:0000007	Autosomal recessive inheritance	4054	LTBP3	OMIM:601216
HP:0000007	Autosomal recessive inheritance	3728	JUP	OMIM:601214
HP:0000007	Autosomal recessive inheritance	29887	SNX10	OMIM:615085
HP:0000007	Autosomal recessive inheritance	83449	PMFBP1	OMIM:618112
HP:0000007	Autosomal recessive inheritance	6809	STX3	OMIM:619445
HP:0000007	Autosomal recessive inheritance	6809	STX3	OMIM:619446
HP:0000007	Autosomal recessive inheritance	92667	MGME1	OMIM:615084
HP:0000007	Autosomal recessive inheritance	8492	PRSS12	OMIM:249500
HP:0000007	Autosomal recessive inheritance	51163	DBR1	OMIM:619441
HP:0000007	Autosomal recessive inheritance	122402	TDRD9	OMIM:618110
HP:0000007	Autosomal recessive inheritance	114803	MYSM1	OMIM:618116
HP:0000007	Autosomal recessive inheritance	2250	FGF5	OMIM:190330
HP:0000007	Autosomal recessive inheritance	4041	LRP5	OMIM:259770
HP:0000007	Autosomal recessive inheritance	4041	LRP5	OMIM:601813
HP:0000007	Autosomal recessive inheritance	176	ACAN	OMIM:612813
HP:0000007	Autosomal recessive inheritance	23218	NBEAL2	OMIM:139090
HP:0000007	Autosomal recessive inheritance	56975	FAM20C	OMIM:259775
HP:0000007	Autosomal recessive inheritance	55249	YY1AP1	OMIM:602531
HP:0000007	Autosomal recessive inheritance	2735	GLI1	OMIM:618123
HP:0000007	Autosomal recessive inheritance	2735	GLI1	OMIM:174400
HP:0000007	Autosomal recessive inheritance	8888	MCM3AP	OMIM:618124
HP:0000007	Autosomal recessive inheritance	63925	ZNF335	OMIM:615095
HP:0000007	Autosomal recessive inheritance	513	ATP5F1D	OMIM:618120
HP:0000007	Autosomal recessive inheritance	4052	LTBP1	OMIM:619451
HP:0000007	Autosomal recessive inheritance	81788	NUAK2	OMIM:619452
HP:0000007	Autosomal recessive inheritance	27341	RRP7A	OMIM:619453
HP:0000007	Autosomal recessive inheritance	5077	PAX3	OMIM:148820
HP:0000007	Autosomal recessive inheritance	7809	BSND	OMIM:602522
HP:0000007	Autosomal recessive inheritance	3155	HMGCL	OMIM:246450
HP:0000007	Autosomal recessive inheritance	2064	ERBB2	OMIM:619465
HP:0000007	Autosomal recessive inheritance	84892	POMGNT2	OMIM:618135
HP:0000007	Autosomal recessive inheritance	84892	POMGNT2	OMIM:614830
HP:0000007	Autosomal recessive inheritance	7161	TP73	OMIM:619466
HP:0000007	Autosomal recessive inheritance	254428	SLC41A1	OMIM:619468
HP:0000007	Autosomal recessive inheritance	127833	SYT2	OMIM:619461
HP:0000007	Autosomal recessive inheritance	146206	CARMIL2	OMIM:618131
HP:0000007	Autosomal recessive inheritance	55340	GIMAP5	OMIM:619463
HP:0000007	Autosomal recessive inheritance	3908	LAMA2	OMIM:618138
HP:0000007	Autosomal recessive inheritance	3908	LAMA2	OMIM:607855
HP:0000007	Autosomal recessive inheritance	1244	ABCC2	OMIM:237500
HP:0000007	Autosomal recessive inheritance	84065	TMEM222	OMIM:619470
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:248200
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:604116
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:601718
HP:0000007	Autosomal recessive inheritance	10205	MPZL2	OMIM:618145
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:619476
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:619479
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:617127
HP:0000007	Autosomal recessive inheritance	8991	SELENBP1	OMIM:618148
HP:0000007	Autosomal recessive inheritance	10526	IPO8	OMIM:619472
HP:0000007	Autosomal recessive inheritance	348180	CTU2	OMIM:618142
HP:0000007	Autosomal recessive inheritance	94005	PIGS	OMIM:618143
HP:0000007	Autosomal recessive inheritance	55651	NHP2	OMIM:224230
HP:0000007	Autosomal recessive inheritance	55651	NHP2	OMIM:613987
HP:0000007	Autosomal recessive inheritance	55505	NOP10	OMIM:224230
HP:0000007	Autosomal recessive inheritance	22901	ARSG	OMIM:618144
HP:0000007	Autosomal recessive inheritance	3257	HPS1	OMIM:203300
HP:0000007	Autosomal recessive inheritance	83706	FERMT3	OMIM:612840
HP:0000007	Autosomal recessive inheritance	9060	PAPSS2	OMIM:612847
HP:0000007	Autosomal recessive inheritance	123264	SLC51B	OMIM:619481
HP:0000007	Autosomal recessive inheritance	283446	MYO1H	OMIM:619482
HP:0000007	Autosomal recessive inheritance	3709	ITPR2	OMIM:106190
HP:0000007	Autosomal recessive inheritance	3636	INPPL1	OMIM:258480
HP:0000007	Autosomal recessive inheritance	2222	FDFT1	OMIM:618156
HP:0000007	Autosomal recessive inheritance	100147744	RNU7-1	OMIM:619487
HP:0000007	Autosomal recessive inheritance	374879	ZNF699	OMIM:619488
HP:0000007	Autosomal recessive inheritance	2692	GHRHR	OMIM:618157
HP:0000007	Autosomal recessive inheritance	60676	PAPPA2	OMIM:619489
HP:0000007	Autosomal recessive inheritance	144406	CFAP251	OMIM:618152
HP:0000007	Autosomal recessive inheritance	10660	LBX1	OMIM:619483
HP:0000007	Autosomal recessive inheritance	401024	FSIP2	OMIM:618153
HP:0000007	Autosomal recessive inheritance	200931	SLC51A	OMIM:619484
HP:0000007	Autosomal recessive inheritance	9508	ADAMTS3	OMIM:618154
HP:0000007	Autosomal recessive inheritance	4617	MYF5	OMIM:618155
HP:0000007	Autosomal recessive inheritance	134353	LSM11	OMIM:619486
HP:0000007	Autosomal recessive inheritance	3557	IL1RN	OMIM:612852
HP:0000007	Autosomal recessive inheritance	7297	TYK2	OMIM:611521
HP:0000007	Autosomal recessive inheritance	54977	SLC25A38	OMIM:205950
HP:0000007	Autosomal recessive inheritance	57038	RARS2	OMIM:611523
HP:0000007	Autosomal recessive inheritance	50485	SMARCAL1	OMIM:242900
HP:0000007	Autosomal recessive inheritance	4645	MYO5B	OMIM:251850
HP:0000007	Autosomal recessive inheritance	4645	MYO5B	OMIM:619868
HP:0000007	Autosomal recessive inheritance	55599	RNPC3	OMIM:618160
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:600791
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:612780
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:274600
HP:0000007	Autosomal recessive inheritance	2299	FOXI1	OMIM:600791
HP:0000007	Autosomal recessive inheritance	2299	FOXI1	OMIM:274600
HP:0000007	Autosomal recessive inheritance	5172	SLC26A4	OMIM:600791
HP:0000007	Autosomal recessive inheritance	5172	SLC26A4	OMIM:274600
HP:0000007	Autosomal recessive inheritance	403	ARL3	OMIM:618161
HP:0000007	Autosomal recessive inheritance	57158	JPH2	OMIM:619492
HP:0000007	Autosomal recessive inheritance	23387	SIK3	OMIM:618162
HP:0000007	Autosomal recessive inheritance	80267	EDEM3	OMIM:619493
HP:0000007	Autosomal recessive inheritance	50515	CHST11	OMIM:618167
HP:0000007	Autosomal recessive inheritance	7482	WNT2B	OMIM:618168
HP:0000007	Autosomal recessive inheritance	4256	MGP	OMIM:245150
HP:0000007	Autosomal recessive inheritance	10117	ENAM	OMIM:204650
HP:0000007	Autosomal recessive inheritance	875	CBS	OMIM:236200
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:610204
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:277470
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:225753
HP:0000007	Autosomal recessive inheritance	54936	ADPRS	OMIM:618170
HP:0000007	Autosomal recessive inheritance	23279	NUP160	OMIM:618178
HP:0000007	Autosomal recessive inheritance	79023	NUP37	OMIM:618179
HP:0000007	Autosomal recessive inheritance	118429	ANTXR2	OMIM:228600
HP:0000007	Autosomal recessive inheritance	26119	LDLRAP1	OMIM:603813
HP:0000007	Autosomal recessive inheritance	1496	CTNNA2	OMIM:618174
HP:0000007	Autosomal recessive inheritance	79902	NUP85	OMIM:618176
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:610212
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:616217
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:617394
HP:0000007	Autosomal recessive inheritance	6559	SLC12A3	OMIM:263800
HP:0000007	Autosomal recessive inheritance	1414	CRYBB1	OMIM:611544
HP:0000007	Autosomal recessive inheritance	284111	SLC13A5	OMIM:615905
HP:0000007	Autosomal recessive inheritance	1829	DSG2	OMIM:612877
HP:0000007	Autosomal recessive inheritance	2760	GM2A	OMIM:272750
HP:0000007	Autosomal recessive inheritance	85016	CFAP300	OMIM:618063
HP:0000007	Autosomal recessive inheritance	8323	FZD6	OMIM:161050
HP:0000007	Autosomal recessive inheritance	5393	EXOSC9	OMIM:618065
HP:0000007	Autosomal recessive inheritance	27178	IL37	OMIM:619398
HP:0000007	Autosomal recessive inheritance	10312	TCIRG1	OMIM:259700
HP:0000007	Autosomal recessive inheritance	730	C7	OMIM:610102
HP:0000007	Autosomal recessive inheritance	79083	MLPH	OMIM:609227
HP:0000007	Autosomal recessive inheritance	5352	PLOD2	OMIM:609220
HP:0000007	Autosomal recessive inheritance	2153	F5	OMIM:600880
HP:0000007	Autosomal recessive inheritance	2153	F5	OMIM:227400
HP:0000007	Autosomal recessive inheritance	3717	JAK2	OMIM:600880
HP:0000007	Autosomal recessive inheritance	146167	SLC38A8	OMIM:609218
HP:0000007	Autosomal recessive inheritance	57222	ERGIC1	OMIM:208100
HP:0000007	Autosomal recessive inheritance	51506	UFC1	OMIM:618076
HP:0000007	Autosomal recessive inheritance	8754	ADAM9	OMIM:612775
HP:0000007	Autosomal recessive inheritance	80055	PGAP1	OMIM:615802
HP:0000007	Autosomal recessive inheritance	10978	CLP1	OMIM:615803
HP:0000007	Autosomal recessive inheritance	271	AMPD2	OMIM:615809
HP:0000007	Autosomal recessive inheritance	271	AMPD2	OMIM:615686
HP:0000007	Autosomal recessive inheritance	1763	DNA2	OMIM:615807
HP:0000007	Autosomal recessive inheritance	525	ATP6V1B1	OMIM:267300
HP:0000007	Autosomal recessive inheritance	388698	FLG2	OMIM:618084
HP:0000007	Autosomal recessive inheritance	3043	HBB	OMIM:603903
HP:0000007	Autosomal recessive inheritance	57697	FANCM	OMIM:618086
HP:0000007	Autosomal recessive inheritance	57697	FANCM	OMIM:618096
HP:0000007	Autosomal recessive inheritance	84876	ORAI1	OMIM:612782
HP:0000007	Autosomal recessive inheritance	220074	LRTOMT	OMIM:611451
HP:0000007	Autosomal recessive inheritance	6261	RYR1	OMIM:255320
HP:0000007	Autosomal recessive inheritance	6261	RYR1	OMIM:117000
HP:0000007	Autosomal recessive inheritance	3988	LIPA	OMIM:278000
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:612781
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:262400
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:262650
HP:0000007	Autosomal recessive inheritance	6786	STIM1	OMIM:612783
HP:0000007	Autosomal recessive inheritance	26504	CNNM4	OMIM:217080
HP:0000007	Autosomal recessive inheritance	5238	PGM3	OMIM:615816
HP:0000007	Autosomal recessive inheritance	1509	CTSD	OMIM:610127
HP:0000007	Autosomal recessive inheritance	23325	WASHC4	OMIM:615817
HP:0000007	Autosomal recessive inheritance	2645	GCK	OMIM:606176
HP:0000007	Autosomal recessive inheritance	1690	COCH	OMIM:618094
HP:0000007	Autosomal recessive inheritance	815	CAMK2A	OMIM:618095
HP:0000007	Autosomal recessive inheritance	80856	LNPK	OMIM:618090
HP:0000007	Autosomal recessive inheritance	6691	SPINK2	OMIM:618091
HP:0000007	Autosomal recessive inheritance	7156	TOP3A	OMIM:618097
HP:0000007	Autosomal recessive inheritance	7156	TOP3A	OMIM:618098
HP:0000007	Autosomal recessive inheritance	84300	UQCC2	OMIM:615824
HP:0000007	Autosomal recessive inheritance	113235	SLC46A1	OMIM:229050
HP:0000007	Autosomal recessive inheritance	4607	MYBPC3	OMIM:115197
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:614500
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:268000
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:617406
HP:0000007	Autosomal recessive inheritance	3035	HARS1	OMIM:614504
HP:0000007	Autosomal recessive inheritance	79753	SNIP1	OMIM:614501
HP:0000007	Autosomal recessive inheritance	25977	NECAP1	OMIM:615833
HP:0000007	Autosomal recessive inheritance	90624	LYRM7	OMIM:615838
HP:0000007	Autosomal recessive inheritance	1650	DDOST	OMIM:614507
HP:0000007	Autosomal recessive inheritance	643226	GRXCR2	OMIM:615837
HP:0000007	Autosomal recessive inheritance	80704	SLC19A3	OMIM:607483
HP:0000007	Autosomal recessive inheritance	4036	LRP2	OMIM:222448
HP:0000007	Autosomal recessive inheritance	6875	TAF4B	OMIM:615841
HP:0000007	Autosomal recessive inheritance	84225	ZMYND15	OMIM:615842
HP:0000007	Autosomal recessive inheritance	153562	MARVELD2	OMIM:610153
HP:0000007	Autosomal recessive inheritance	107	ADCY1	OMIM:610154
HP:0000007	Autosomal recessive inheritance	5627	PROS1	OMIM:614514
HP:0000007	Autosomal recessive inheritance	5340	PLG	OMIM:217090
HP:0000007	Autosomal recessive inheritance	1910	EDNRB	OMIM:277580
HP:0000007	Autosomal recessive inheritance	1910	EDNRB	OMIM:600501
HP:0000007	Autosomal recessive inheritance	866	SERPINA6	OMIM:611489
HP:0000007	Autosomal recessive inheritance	2488	FSHB	OMIM:229070
HP:0000007	Autosomal recessive inheritance	137814	NKX2-6	OMIM:217095
HP:0000007	Autosomal recessive inheritance	1482	NKX2-5	OMIM:217095
HP:0000007	Autosomal recessive inheritance	6899	TBX1	OMIM:217095
HP:0000007	Autosomal recessive inheritance	2627	GATA6	OMIM:217095
HP:0000007	Autosomal recessive inheritance	760	CA2	OMIM:259730
HP:0000007	Autosomal recessive inheritance	79001	VKORC1	OMIM:607473
HP:0000007	Autosomal recessive inheritance	8813	DPM1	OMIM:608799
HP:0000007	Autosomal recessive inheritance	2121	EVC	OMIM:225500
HP:0000007	Autosomal recessive inheritance	132884	EVC2	OMIM:225500
HP:0000007	Autosomal recessive inheritance	1186	CLCN7	OMIM:611490
HP:0000007	Autosomal recessive inheritance	9652	SKIC3	OMIM:222470
HP:0000007	Autosomal recessive inheritance	919	CD247	OMIM:610163
HP:0000007	Autosomal recessive inheritance	9842	PLEKHM1	OMIM:611497
HP:0000007	Autosomal recessive inheritance	55275	VPS53	OMIM:615851
HP:0000007	Autosomal recessive inheritance	84662	GLIS2	OMIM:611498
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:614524
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:215150
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:609706
HP:0000007	Autosomal recessive inheritance	85440	DOCK7	OMIM:615859
HP:0000007	Autosomal recessive inheritance	28962	OSTM1	OMIM:259720
HP:0000007	Autosomal recessive inheritance	23093	TTLL5	OMIM:615860
HP:0000007	Autosomal recessive inheritance	8694	DGAT1	OMIM:615863
HP:0000007	Autosomal recessive inheritance	2013	EMP2	OMIM:615861
HP:0000007	Autosomal recessive inheritance	51134	CEP83	OMIM:615862
HP:0000007	Autosomal recessive inheritance	3679	ITGA7	OMIM:613204
HP:0000007	Autosomal recessive inheritance	54704	PDP1	OMIM:608782
HP:0000007	Autosomal recessive inheritance	6524	SLC5A2	OMIM:233100
HP:0000007	Autosomal recessive inheritance	8600	TNFSF11	OMIM:259710
HP:0000007	Autosomal recessive inheritance	6708	SPTA1	OMIM:270970
HP:0000007	Autosomal recessive inheritance	6708	SPTA1	OMIM:266140
HP:0000007	Autosomal recessive inheritance	91949	COG7	OMIM:608779
HP:0000007	Autosomal recessive inheritance	79621	RNASEH2B	OMIM:610181
HP:0000007	Autosomal recessive inheritance	256764	WDR72	OMIM:613211
HP:0000007	Autosomal recessive inheritance	124997	WDR81	OMIM:610185
HP:0000007	Autosomal recessive inheritance	124997	WDR81	OMIM:617967
HP:0000007	Autosomal recessive inheritance	5648	MASP1	OMIM:257920
HP:0000007	Autosomal recessive inheritance	10309	CCNO	OMIM:615872
HP:0000007	Autosomal recessive inheritance	117581	TWIST2	OMIM:227260
HP:0000007	Autosomal recessive inheritance	9414	TJP2	OMIM:615878
HP:0000007	Autosomal recessive inheritance	9414	TJP2	OMIM:607748
HP:0000007	Autosomal recessive inheritance	4072	EPCAM	OMIM:613217
HP:0000007	Autosomal recessive inheritance	4308	TRPM1	OMIM:613216
HP:0000007	Autosomal recessive inheritance	10586	MAB21L2	OMIM:615877
HP:0000007	Autosomal recessive inheritance	79796	ALG9	OMIM:608776
HP:0000007	Autosomal recessive inheritance	79796	ALG9	OMIM:263210
HP:0000007	Autosomal recessive inheritance	3718	JAK3	OMIM:600802
HP:0000007	Autosomal recessive inheritance	7306	TYRP1	OMIM:203290
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:600803
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:602347
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:614972
HP:0000007	Autosomal recessive inheritance	6652	SORD	OMIM:618912
HP:0000007	Autosomal recessive inheritance	131118	DNAJC19	OMIM:610198
HP:0000007	Autosomal recessive inheritance	83479	DDX59	OMIM:174300
HP:0000007	Autosomal recessive inheritance	169792	GLIS3	OMIM:610199
HP:0000007	Autosomal recessive inheritance	57505	AARS2	OMIM:615889
HP:0000007	Autosomal recessive inheritance	57505	AARS2	OMIM:614096
HP:0000007	Autosomal recessive inheritance	2162	F13A1	OMIM:613225
HP:0000007	Autosomal recessive inheritance	50	ACO2	OMIM:614559
HP:0000007	Autosomal recessive inheritance	50	ACO2	OMIM:616289
HP:0000007	Autosomal recessive inheritance	55152	DALRD3	OMIM:618910
HP:0000007	Autosomal recessive inheritance	123041	SLC24A4	OMIM:615887
HP:0000007	Autosomal recessive inheritance	55033	FKBP14	OMIM:614557
HP:0000007	Autosomal recessive inheritance	767	CA8	OMIM:613227
HP:0000007	Autosomal recessive inheritance	10235	RASGRP2	OMIM:615888
HP:0000007	Autosomal recessive inheritance	27235	COQ2	OMIM:607426
HP:0000007	Autosomal recessive inheritance	27235	COQ2	OMIM:146500
HP:0000007	Autosomal recessive inheritance	727676	SNORD118	OMIM:614561
HP:0000007	Autosomal recessive inheritance	440435	GPR179	OMIM:614565
HP:0000007	Autosomal recessive inheritance	1503	CTPS1	OMIM:615897
HP:0000007	Autosomal recessive inheritance	2165	F13B	OMIM:613235
HP:0000007	Autosomal recessive inheritance	10616	RBCK1	OMIM:615895
HP:0000007	Autosomal recessive inheritance	5837	PYGM	OMIM:232600
HP:0000007	Autosomal recessive inheritance	2917	GRM7	OMIM:618922
HP:0000007	Autosomal recessive inheritance	4634	MYL3	OMIM:608751
HP:0000007	Autosomal recessive inheritance	4361	MRE11	OMIM:604391
HP:0000007	Autosomal recessive inheritance	23746	AIPL1	OMIM:604393
HP:0000007	Autosomal recessive inheritance	23746	AIPL1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	55764	IFT122	OMIM:218330
HP:0000007	Autosomal recessive inheritance	717	C2	OMIM:217000
HP:0000007	Autosomal recessive inheritance	51185	CRBN	OMIM:607417
HP:0000007	Autosomal recessive inheritance	3479	IGF1	OMIM:608747
HP:0000007	Autosomal recessive inheritance	57511	COG6	OMIM:614576
HP:0000007	Autosomal recessive inheritance	57511	COG6	OMIM:615328
HP:0000007	Autosomal recessive inheritance	79415	CYBC1	OMIM:618935
HP:0000007	Autosomal recessive inheritance	149461	CLDN19	OMIM:248190
HP:0000007	Autosomal recessive inheritance	5981	RFC1	OMIM:614575
HP:0000007	Autosomal recessive inheritance	29980	DONSON	OMIM:617604
HP:0000007	Autosomal recessive inheritance	29980	DONSON	OMIM:251230
HP:0000007	Autosomal recessive inheritance	9863	MAGI2	OMIM:617609
HP:0000007	Autosomal recessive inheritance	9997	SCO2	OMIM:604377
HP:0000007	Autosomal recessive inheritance	200879	LIPH	OMIM:604379
HP:0000007	Autosomal recessive inheritance	11222	MRPL3	OMIM:614582
HP:0000007	Autosomal recessive inheritance	81689	ISCA1	OMIM:617613
HP:0000007	Autosomal recessive inheritance	2517	FUCA1	OMIM:230000
HP:0000007	Autosomal recessive inheritance	5333	PLCD1	OMIM:151600
HP:0000007	Autosomal recessive inheritance	1861	TOR1A	OMIM:618947
HP:0000007	Autosomal recessive inheritance	199221	DZIP1L	OMIM:617610
HP:0000007	Autosomal recessive inheritance	55329	MNS1	OMIM:618948
HP:0000007	Autosomal recessive inheritance	219285	SAMD9L	OMIM:252270
HP:0000007	Autosomal recessive inheritance	3570	IL6R	OMIM:618944
HP:0000007	Autosomal recessive inheritance	1890	TYMP	OMIM:603041
HP:0000007	Autosomal recessive inheritance	4148	MATN3	OMIM:608728
HP:0000007	Autosomal recessive inheritance	26503	SLC17A5	OMIM:604369
HP:0000007	Autosomal recessive inheritance	26503	SLC17A5	OMIM:269920
HP:0000007	Autosomal recessive inheritance	55617	TASP1	OMIM:618950
HP:0000007	Autosomal recessive inheritance	6182	MRPL12	OMIM:618951
HP:0000007	Autosomal recessive inheritance	1908	EDN3	OMIM:613265
HP:0000007	Autosomal recessive inheritance	3098	HK1	OMIM:235700
HP:0000007	Autosomal recessive inheritance	3098	HK1	OMIM:605285
HP:0000007	Autosomal recessive inheritance	28957	MRPS28	OMIM:618958
HP:0000007	Autosomal recessive inheritance	80210	ARMC9	OMIM:617622
HP:0000007	Autosomal recessive inheritance	4190	MDH1	OMIM:618959
HP:0000007	Autosomal recessive inheritance	51649	MRPS23	OMIM:618952
HP:0000007	Autosomal recessive inheritance	8292	COLQ	OMIM:603034
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:124000
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:262000
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:603358
HP:0000007	Autosomal recessive inheritance	113246	C12orf57	OMIM:218340
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:604360
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:602099
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:616668
HP:0000007	Autosomal recessive inheritance	259266	ASPM	OMIM:608716
HP:0000007	Autosomal recessive inheritance	5331	PLCB3	OMIM:618961
HP:0000007	Autosomal recessive inheritance	7515	XRCC1	OMIM:617633
HP:0000007	Autosomal recessive inheritance	23558	WBP2	OMIM:617639
HP:0000007	Autosomal recessive inheritance	3458	IFNG	OMIM:618963
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:616307
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614378
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614376
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614377
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:619867
HP:0000007	Autosomal recessive inheritance	64787	EPS8L2	OMIM:617637
HP:0000007	Autosomal recessive inheritance	5205	ATP8B1	OMIM:243300
HP:0000007	Autosomal recessive inheritance	5205	ATP8B1	OMIM:211600
HP:0000007	Autosomal recessive inheritance	1832	DSP	OMIM:605676
HP:0000007	Autosomal recessive inheritance	1832	DSP	OMIM:609638
HP:0000007	Autosomal recessive inheritance	9699	RIMS2	OMIM:618970
HP:0000007	Autosomal recessive inheritance	55532	SLC30A10	OMIM:613280
HP:0000007	Autosomal recessive inheritance	1468	SLC25A10	OMIM:618972
HP:0000007	Autosomal recessive inheritance	8884	SLC5A6	OMIM:618973
HP:0000007	Autosomal recessive inheritance	8884	SLC5A6	OMIM:619903
HP:0000007	Autosomal recessive inheritance	23288	IQCE	OMIM:617642
HP:0000007	Autosomal recessive inheritance	389207	GRXCR1	OMIM:613285
HP:0000007	Autosomal recessive inheritance	1140	CHRNB1	OMIM:616314
HP:0000007	Autosomal recessive inheritance	676	BRDT	OMIM:617644
HP:0000007	Autosomal recessive inheritance	3778	KCNMA1	OMIM:617643
HP:0000007	Autosomal recessive inheritance	4654	MYOD1	OMIM:618975
HP:0000007	Autosomal recessive inheritance	1409	CRYAA	OMIM:604219
HP:0000007	Autosomal recessive inheritance	29899	GPSM2	OMIM:604213
HP:0000007	Autosomal recessive inheritance	104	ADARB1	OMIM:618862
HP:0000007	Autosomal recessive inheritance	91452	ACBD5	OMIM:618863
HP:0000007	Autosomal recessive inheritance	151648	SGO1	OMIM:616201
HP:0000007	Autosomal recessive inheritance	50651	SLC45A1	OMIM:617532
HP:0000007	Autosomal recessive inheritance	83932	SPRTN	OMIM:616200
HP:0000007	Autosomal recessive inheritance	8029	CUBN	OMIM:261100
HP:0000007	Autosomal recessive inheritance	8029	CUBN	OMIM:618884
HP:0000007	Autosomal recessive inheritance	23446	SLC44A1	OMIM:618868
HP:0000007	Autosomal recessive inheritance	2895	GRID2	OMIM:616204
HP:0000007	Autosomal recessive inheritance	8425	LTBP4	OMIM:613177
HP:0000007	Autosomal recessive inheritance	2972	BRF1	OMIM:616202
HP:0000007	Autosomal recessive inheritance	4860	PNP	OMIM:613179
HP:0000007	Autosomal recessive inheritance	64220	STRA6	OMIM:601186
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:241500
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:241510
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:146300
HP:0000007	Autosomal recessive inheritance	10300	KATNB1	OMIM:616212
HP:0000007	Autosomal recessive inheritance	51741	WWOX	OMIM:616211
HP:0000007	Autosomal recessive inheritance	51741	WWOX	OMIM:614322
HP:0000007	Autosomal recessive inheritance	1630	DCC	OMIM:617542
HP:0000007	Autosomal recessive inheritance	55790	CSGALNACT1	OMIM:618870
HP:0000007	Autosomal recessive inheritance	1723	DHODH	OMIM:263750
HP:0000007	Autosomal recessive inheritance	755	CFAP410	OMIM:617547
HP:0000007	Autosomal recessive inheritance	755	CFAP410	OMIM:602271
HP:0000007	Autosomal recessive inheritance	10026	PIGK	OMIM:618879
HP:0000007	Autosomal recessive inheritance	375387	NRROS	OMIM:618875
HP:0000007	Autosomal recessive inheritance	472	ATM	OMIM:208900
HP:0000007	Autosomal recessive inheritance	84570	COL25A1	OMIM:616219
HP:0000007	Autosomal recessive inheritance	1476	CSTB	OMIM:254800
HP:0000007	Autosomal recessive inheritance	64175	P3H1	OMIM:610915
HP:0000007	Autosomal recessive inheritance	220202	ATOH7	OMIM:221900
HP:0000007	Autosomal recessive inheritance	9289	ADGRG1	OMIM:606854
HP:0000007	Autosomal recessive inheritance	9289	ADGRG1	OMIM:615752
HP:0000007	Autosomal recessive inheritance	81693	AMN	OMIM:618882
HP:0000007	Autosomal recessive inheritance	83696	TRAPPC9	OMIM:613192
HP:0000007	Autosomal recessive inheritance	9247	GCM2	OMIM:618883
HP:0000007	Autosomal recessive inheritance	2590	GALNT2	OMIM:618885
HP:0000007	Autosomal recessive inheritance	123872	DNAAF1	OMIM:613193
HP:0000007	Autosomal recessive inheritance	170691	ADAMTS17	OMIM:613195
HP:0000007	Autosomal recessive inheritance	3694	ITGB6	OMIM:616221
HP:0000007	Autosomal recessive inheritance	130589	GALM	OMIM:618881
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:616227
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:619031
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:619036
HP:0000007	Autosomal recessive inheritance	9581	PREPL	OMIM:616224
HP:0000007	Autosomal recessive inheritance	6773	STAT2	OMIM:618886
HP:0000007	Autosomal recessive inheritance	6773	STAT2	OMIM:616636
HP:0000007	Autosomal recessive inheritance	90993	CREB3L1	OMIM:616229
HP:0000007	Autosomal recessive inheritance	23761	PISD	OMIM:618889
HP:0000007	Autosomal recessive inheritance	85365	ALG2	OMIM:616228
HP:0000007	Autosomal recessive inheritance	85365	ALG2	OMIM:607906
HP:0000007	Autosomal recessive inheritance	21	ABCA3	OMIM:610921
HP:0000007	Autosomal recessive inheritance	157680	VPS13B	OMIM:216550
HP:0000007	Autosomal recessive inheritance	958	CD40	OMIM:606843
HP:0000007	Autosomal recessive inheritance	10715	CERS1	OMIM:616230
HP:0000007	Autosomal recessive inheritance	84504	NKX6-2	OMIM:617560
HP:0000007	Autosomal recessive inheritance	26284	ERAL1	OMIM:617565
HP:0000007	Autosomal recessive inheritance	1301	COL11A1	OMIM:228520
HP:0000007	Autosomal recessive inheritance	4174	MCM5	OMIM:617564
HP:0000007	Autosomal recessive inheritance	25930	PTPN23	OMIM:618890
HP:0000007	Autosomal recessive inheritance	84314	TMEM107	OMIM:617563
HP:0000007	Autosomal recessive inheritance	84314	TMEM107	OMIM:617562
HP:0000007	Autosomal recessive inheritance	833	CARS1	OMIM:618891
HP:0000007	Autosomal recessive inheritance	1371	CPOX	OMIM:618892
HP:0000007	Autosomal recessive inheritance	9723	SEMA3E	OMIM:146110
HP:0000007	Autosomal recessive inheritance	558	AXL	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2798	GNRHR	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2796	GNRH1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2796	GNRH1	OMIM:614841
HP:0000007	Autosomal recessive inheritance	10011	SRA1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	55717	WDR11	OMIM:146110
HP:0000007	Autosomal recessive inheritance	55717	WDR11	OMIM:620237
HP:0000007	Autosomal recessive inheritance	8822	FGF17	OMIM:146110
HP:0000007	Autosomal recessive inheritance	1848	DUSP6	OMIM:146110
HP:0000007	Autosomal recessive inheritance	81848	SPRY4	OMIM:146110
HP:0000007	Autosomal recessive inheritance	285025	CCDC141	OMIM:146110
HP:0000007	Autosomal recessive inheritance	389549	FEZF1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	389549	FEZF1	OMIM:616030
HP:0000007	Autosomal recessive inheritance	10861	SLC26A1	OMIM:167030
HP:0000007	Autosomal recessive inheritance	10861	SLC26A1	OMIM:620372
HP:0000007	Autosomal recessive inheritance	54840	APTX	OMIM:208920
HP:0000007	Autosomal recessive inheritance	79731	NARS2	OMIM:616239
HP:0000007	Autosomal recessive inheritance	79731	NARS2	OMIM:618434
HP:0000007	Autosomal recessive inheritance	1789	DNMT3B	OMIM:242860
HP:0000007	Autosomal recessive inheritance	6820	SULT2B1	OMIM:617571
HP:0000007	Autosomal recessive inheritance	25981	DNAH1	OMIM:617576
HP:0000007	Autosomal recessive inheritance	25981	DNAH1	OMIM:617577
HP:0000007	Autosomal recessive inheritance	8879	SGPL1	OMIM:617575
HP:0000007	Autosomal recessive inheritance	142680	SLC34A3	OMIM:241530
HP:0000007	Autosomal recessive inheritance	23461	ABCA5	OMIM:135400
HP:0000007	Autosomal recessive inheritance	121214	SDR9C7	OMIM:617574
HP:0000007	Autosomal recessive inheritance	100128927	ZBTB42	OMIM:616248
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:170650
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:245010
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:245000
HP:0000007	Autosomal recessive inheritance	23474	ETHE1	OMIM:602473
HP:0000007	Autosomal recessive inheritance	145258	GSC	OMIM:602471
HP:0000007	Autosomal recessive inheritance	6523	SLC5A1	OMIM:606824
HP:0000007	Autosomal recessive inheritance	3931	LCAT	OMIM:245900
HP:0000007	Autosomal recessive inheritance	3931	LCAT	OMIM:136120
HP:0000007	Autosomal recessive inheritance	5971	RELB	OMIM:617585
HP:0000007	Autosomal recessive inheritance	9474	ATG5	OMIM:617584
HP:0000007	Autosomal recessive inheritance	9928	KIF14	OMIM:616258
HP:0000007	Autosomal recessive inheritance	9928	KIF14	OMIM:617914
HP:0000007	Autosomal recessive inheritance	256471	MFSD8	OMIM:610951
HP:0000007	Autosomal recessive inheritance	256471	MFSD8	OMIM:616170
HP:0000007	Autosomal recessive inheritance	2271	FH	OMIM:606812
HP:0000007	Autosomal recessive inheritance	57724	EPG5	OMIM:242840
HP:0000007	Autosomal recessive inheritance	51651	PTRH2	OMIM:616263
HP:0000007	Autosomal recessive inheritance	55779	CFAP44	OMIM:617593
HP:0000007	Autosomal recessive inheritance	80217	CFAP43	OMIM:617592
HP:0000007	Autosomal recessive inheritance	5692	PSMB4	OMIM:617591
HP:0000007	Autosomal recessive inheritance	5698	PSMB9	OMIM:617591
HP:0000007	Autosomal recessive inheritance	9319	TRIP13	OMIM:617598
HP:0000007	Autosomal recessive inheritance	9319	TRIP13	OMIM:619011
HP:0000007	Autosomal recessive inheritance	2954	GSTZ1	OMIM:617596
HP:0000007	Autosomal recessive inheritance	64377	CHST8	OMIM:616265
HP:0000007	Autosomal recessive inheritance	10463	SLC30A9	OMIM:617595
HP:0000007	Autosomal recessive inheritance	388662	SLC6A17	OMIM:616269
HP:0000007	Autosomal recessive inheritance	51227	PIGP	OMIM:617599
HP:0000007	Autosomal recessive inheritance	64421	DCLRE1C	OMIM:602450
HP:0000007	Autosomal recessive inheritance	64421	DCLRE1C	OMIM:603554
HP:0000007	Autosomal recessive inheritance	6528	SLC5A5	OMIM:274400
HP:0000007	Autosomal recessive inheritance	10195	ALG3	OMIM:601110
HP:0000007	Autosomal recessive inheritance	257	ALX3	OMIM:136760
HP:0000007	Autosomal recessive inheritance	258	AMBN	OMIM:616270
HP:0000007	Autosomal recessive inheritance	1749	DLX5	OMIM:220600
HP:0000007	Autosomal recessive inheritance	51645	PPIL1	OMIM:619301
HP:0000007	Autosomal recessive inheritance	51362	CDC40	OMIM:619302
HP:0000007	Autosomal recessive inheritance	81570	CLPB	OMIM:616271
HP:0000007	Autosomal recessive inheritance	5825	ABCD3	OMIM:616278
HP:0000007	Autosomal recessive inheritance	1758	DMP1	OMIM:241520
HP:0000007	Autosomal recessive inheritance	1892	ECHS1	OMIM:616277
HP:0000007	Autosomal recessive inheritance	51117	COQ4	OMIM:616276
HP:0000007	Autosomal recessive inheritance	51013	EXOSC1	OMIM:619304
HP:0000007	Autosomal recessive inheritance	55770	EXOC2	OMIM:619306
HP:0000007	Autosomal recessive inheritance	846	CASR	OMIM:239200
HP:0000007	Autosomal recessive inheritance	83893	SPATA16	OMIM:102530
HP:0000007	Autosomal recessive inheritance	84706	GPT2	OMIM:616281
HP:0000007	Autosomal recessive inheritance	4547	MTTP	OMIM:200100
HP:0000007	Autosomal recessive inheritance	55388	MCM10	OMIM:619313
HP:0000007	Autosomal recessive inheritance	3691	ITGB4	OMIM:226730
HP:0000007	Autosomal recessive inheritance	3691	ITGB4	OMIM:619816
HP:0000007	Autosomal recessive inheritance	5351	PLOD1	OMIM:225400
HP:0000007	Autosomal recessive inheritance	112	ADCY6	OMIM:616287
HP:0000007	Autosomal recessive inheritance	51728	POLR3K	OMIM:619310
HP:0000007	Autosomal recessive inheritance	85476	GFM1	OMIM:609060
HP:0000007	Autosomal recessive inheritance	6650	CAPN15	OMIM:619318
HP:0000007	Autosomal recessive inheritance	3426	CFI	OMIM:610984
HP:0000007	Autosomal recessive inheritance	6548	SLC9A1	OMIM:616291
HP:0000007	Autosomal recessive inheritance	831	CAST	OMIM:616295
HP:0000007	Autosomal recessive inheritance	23102	TBC1D2B	OMIM:619323
HP:0000007	Autosomal recessive inheritance	9871	SEC24D	OMIM:616294
HP:0000007	Autosomal recessive inheritance	51601	LIPT1	OMIM:616299
HP:0000007	Autosomal recessive inheritance	8882	ZPR1	OMIM:619321
HP:0000007	Autosomal recessive inheritance	55215	FANCI	OMIM:609053
HP:0000007	Autosomal recessive inheritance	83990	BRIP1	OMIM:609054
HP:0000007	Autosomal recessive inheritance	1363	CPE	OMIM:619326
HP:0000007	Autosomal recessive inheritance	29968	PSAT1	OMIM:610992
HP:0000007	Autosomal recessive inheritance	29968	PSAT1	OMIM:616038
HP:0000007	Autosomal recessive inheritance	977	CD151	OMIM:609057
HP:0000007	Autosomal recessive inheritance	8869	ST3GAL5	OMIM:609056
HP:0000007	Autosomal recessive inheritance	4166	CHST6	OMIM:217800
HP:0000007	Autosomal recessive inheritance	25929	GEMIN5	OMIM:619333
HP:0000007	Autosomal recessive inheritance	4703	NEB	OMIM:619334
HP:0000007	Autosomal recessive inheritance	4703	NEB	OMIM:256030
HP:0000007	Autosomal recessive inheritance	2530	FUT8	OMIM:618005
HP:0000007	Autosomal recessive inheritance	34	ACADM	OMIM:201450
HP:0000007	Autosomal recessive inheritance	79641	ROGDI	OMIM:226750
HP:0000007	Autosomal recessive inheritance	165	AEBP1	OMIM:618000
HP:0000007	Autosomal recessive inheritance	10082	GPC6	OMIM:258315
HP:0000007	Autosomal recessive inheritance	7965	AIMP2	OMIM:618006
HP:0000007	Autosomal recessive inheritance	1147	CHUK	OMIM:619339
HP:0000007	Autosomal recessive inheritance	1147	CHUK	OMIM:613630
HP:0000007	Autosomal recessive inheritance	10157	AASS	OMIM:238700
HP:0000007	Autosomal recessive inheritance	3913	LAMB2	OMIM:609049
HP:0000007	Autosomal recessive inheritance	3913	LAMB2	OMIM:614199
HP:0000007	Autosomal recessive inheritance	6491	STIL	OMIM:612703
HP:0000007	Autosomal recessive inheritance	6768	ST14	OMIM:602400
HP:0000007	Autosomal recessive inheritance	9509	ADAMTS2	OMIM:225410
HP:0000007	Autosomal recessive inheritance	54845	ESRP1	OMIM:618013
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:208085
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:620009
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:620010
HP:0000007	Autosomal recessive inheritance	2661	GDF9	OMIM:618014
HP:0000007	Autosomal recessive inheritance	26175	LYSET	OMIM:619345
HP:0000007	Autosomal recessive inheritance	5283	PIGH	OMIM:618010
HP:0000007	Autosomal recessive inheritance	84896	ATAD1	OMIM:618011
HP:0000007	Autosomal recessive inheritance	3930	LBR	OMIM:618019
HP:0000007	Autosomal recessive inheritance	79644	SRD5A3	OMIM:612713
HP:0000007	Autosomal recessive inheritance	79644	SRD5A3	OMIM:612379
HP:0000007	Autosomal recessive inheritance	145226	RDH12	OMIM:612712
HP:0000007	Autosomal recessive inheritance	84701	COX4I2	OMIM:612714
HP:0000007	Autosomal recessive inheritance	6697	SPR	OMIM:612716
HP:0000007	Autosomal recessive inheritance	28982	FLVCR1	OMIM:609033
HP:0000007	Autosomal recessive inheritance	2628	GATM	OMIM:612718
HP:0000007	Autosomal recessive inheritance	51241	COX16	OMIM:619355
HP:0000007	Autosomal recessive inheritance	3795	KHK	OMIM:229800
HP:0000007	Autosomal recessive inheritance	37	ACADVL	OMIM:201475
HP:0000007	Autosomal recessive inheritance	5281	PIGF	OMIM:619356
HP:0000007	Autosomal recessive inheritance	4629	MYH11	OMIM:619351
HP:0000007	Autosomal recessive inheritance	340419	RSPO2	OMIM:618021
HP:0000007	Autosomal recessive inheritance	340419	RSPO2	OMIM:618022
HP:0000007	Autosomal recessive inheritance	35	ACADS	OMIM:201470
HP:0000007	Autosomal recessive inheritance	5702	PSMC3	OMIM:619354
HP:0000007	Autosomal recessive inheritance	788	SLC25A20	OMIM:212138
HP:0000007	Autosomal recessive inheritance	5019	OXCT1	OMIM:245050
HP:0000007	Autosomal recessive inheritance	10283	CWC27	OMIM:250410
HP:0000007	Autosomal recessive inheritance	10483	SEC23B	OMIM:224100
HP:0000007	Autosomal recessive inheritance	285590	SH3PXD2B	OMIM:249420
HP:0000007	Autosomal recessive inheritance	25802	LMOD1	OMIM:619362
HP:0000007	Autosomal recessive inheritance	23230	VPS13A	OMIM:200150
HP:0000007	Autosomal recessive inheritance	10398	MYL9	OMIM:619365
HP:0000007	Autosomal recessive inheritance	539	ATP5PO	OMIM:620359
HP:0000007	Autosomal recessive inheritance	3030	HADHA	OMIM:609015
HP:0000007	Autosomal recessive inheritance	3030	HADHA	OMIM:609016
HP:0000007	Autosomal recessive inheritance	2593	GAMT	OMIM:612736
HP:0000007	Autosomal recessive inheritance	4322	MMP13	OMIM:250400
HP:0000007	Autosomal recessive inheritance	1759	DNM1	OMIM:620352
HP:0000007	Autosomal recessive inheritance	6123	RPL3L	OMIM:619371
HP:0000007	Autosomal recessive inheritance	55898	UNC45A	OMIM:619377
HP:0000007	Autosomal recessive inheritance	7390	UROS	OMIM:263700
HP:0000007	Autosomal recessive inheritance	375307	CATIP	OMIM:619379
HP:0000007	Autosomal recessive inheritance	6571	SLC18A2	OMIM:618049
HP:0000007	Autosomal recessive inheritance	3937	LCP2	OMIM:619374
HP:0000007	Autosomal recessive inheritance	210	ALAD	OMIM:612740
HP:0000007	Autosomal recessive inheritance	4948	OCA2	OMIM:203200
HP:0000007	Autosomal recessive inheritance	4157	MC1R	OMIM:203200
HP:0000007	Autosomal recessive inheritance	83715	ESPN	OMIM:609006
HP:0000007	Autosomal recessive inheritance	83715	ESPN	OMIM:618632
HP:0000007	Autosomal recessive inheritance	6522	SLC4A2	OMIM:620366
HP:0000007	Autosomal recessive inheritance	200162	SPAG17	OMIM:619380
HP:0000007	Autosomal recessive inheritance	84277	DNAJC30	OMIM:619382
HP:0000007	Autosomal recessive inheritance	57538	ALPK3	OMIM:618052
HP:0000007	Autosomal recessive inheritance	129285	PPP1R21	OMIM:619383
HP:0000007	Autosomal recessive inheritance	6913	TBX15	OMIM:260660
HP:0000007	Autosomal recessive inheritance	27072	VPS41	OMIM:619389
HP:0000007	Autosomal recessive inheritance	341208	HEPHL1	OMIM:261990
HP:0000007	Autosomal recessive inheritance	9054	NFS1	OMIM:619386
HP:0000007	Autosomal recessive inheritance	146059	CDAN1	OMIM:224120
HP:0000007	Autosomal recessive inheritance	221927	BRAT1	OMIM:618056
HP:0000007	Autosomal recessive inheritance	221927	BRAT1	OMIM:614498
HP:0000007	Autosomal recessive inheritance	6584	SLC22A5	OMIM:212140
HP:0000007	Autosomal recessive inheritance	4702	NDUFA8	OMIM:619272
HP:0000007	Autosomal recessive inheritance	158	ADSL	OMIM:103050
HP:0000007	Autosomal recessive inheritance	81555	YIPF5	OMIM:619278
HP:0000007	Autosomal recessive inheritance	10804	GJB6	OMIM:612645
HP:0000007	Autosomal recessive inheritance	10804	GJB6	OMIM:220290
HP:0000007	Autosomal recessive inheritance	347734	SLC35B2	OMIM:620269
HP:0000007	Autosomal recessive inheritance	345895	RSPH4A	OMIM:612649
HP:0000007	Autosomal recessive inheritance	4758	NEU1	OMIM:256550
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:200990
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:607131
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:614120
HP:0000007	Autosomal recessive inheritance	9442	MED27	OMIM:619286
HP:0000007	Autosomal recessive inheritance	221421	RSPH9	OMIM:612650
HP:0000007	Autosomal recessive inheritance	5176	SERPINF1	OMIM:613982
HP:0000007	Autosomal recessive inheritance	22858	CILK1	OMIM:612651
HP:0000007	Autosomal recessive inheritance	84140	FAM161A	OMIM:606068
HP:0000007	Autosomal recessive inheritance	56246	MRAP	OMIM:607398
HP:0000007	Autosomal recessive inheritance	55135	WRAP53	OMIM:613988
HP:0000007	Autosomal recessive inheritance	7015	TERT	OMIM:613989
HP:0000007	Autosomal recessive inheritance	5476	CTSA	OMIM:256540
HP:0000007	Autosomal recessive inheritance	51324	SPG21	OMIM:248900
HP:0000007	Autosomal recessive inheritance	2533	FYB1	OMIM:273900
HP:0000007	Autosomal recessive inheritance	2642	GCGR	OMIM:619290
HP:0000007	Autosomal recessive inheritance	274	BIN1	OMIM:255200
HP:0000007	Autosomal recessive inheritance	36	ACADSB	OMIM:610006
HP:0000007	Autosomal recessive inheritance	7841	MOGS	OMIM:606056
HP:0000007	Autosomal recessive inheritance	5095	PCCA	OMIM:606054
HP:0000007	Autosomal recessive inheritance	5096	PCCB	OMIM:606054
HP:0000007	Autosomal recessive inheritance	7466	WFS1	OMIM:222300
HP:0000007	Autosomal recessive inheritance	26090	ABHD12	OMIM:612674
HP:0000007	Autosomal recessive inheritance	84984	CEP19	OMIM:615703
HP:0000007	Autosomal recessive inheritance	4338	MOCS2	OMIM:252160
HP:0000007	Autosomal recessive inheritance	2752	GLUL	OMIM:610015
HP:0000007	Autosomal recessive inheritance	1906	EDN1	OMIM:615706
HP:0000007	Autosomal recessive inheritance	2214	FCGR3A	OMIM:615707
HP:0000007	Autosomal recessive inheritance	79443	FYCO1	OMIM:610019
HP:0000007	Autosomal recessive inheritance	9711	RUBCN	OMIM:615705
HP:0000007	Autosomal recessive inheritance	26227	PHGDH	OMIM:256520
HP:0000007	Autosomal recessive inheritance	26227	PHGDH	OMIM:601815
HP:0000007	Autosomal recessive inheritance	6862	TBXT	OMIM:615709
HP:0000007	Autosomal recessive inheritance	2677	GGCX	OMIM:277450
HP:0000007	Autosomal recessive inheritance	2677	GGCX	OMIM:610842
HP:0000007	Autosomal recessive inheritance	222546	RFX6	OMIM:615710
HP:0000007	Autosomal recessive inheritance	9255	AIMP1	OMIM:260600
HP:0000007	Autosomal recessive inheritance	5149	PDE6H	OMIM:610024
HP:0000007	Autosomal recessive inheritance	375748	ERCC6L2	OMIM:615715
HP:0000007	Autosomal recessive inheritance	93210	PGAP3	OMIM:615716
HP:0000007	Autosomal recessive inheritance	1188	CLCNKB	OMIM:607364
HP:0000007	Autosomal recessive inheritance	728294	D2HGDH	OMIM:600721
HP:0000007	Autosomal recessive inheritance	9095	TBX19	OMIM:201400
HP:0000007	Autosomal recessive inheritance	2038	EPB42	OMIM:612690
HP:0000007	Autosomal recessive inheritance	974	CD79B	OMIM:612692
HP:0000007	Autosomal recessive inheritance	26281	FGF20	OMIM:615721
HP:0000007	Autosomal recessive inheritance	164045	HFM1	OMIM:615724
HP:0000007	Autosomal recessive inheritance	57709	SLC7A14	OMIM:615725
HP:0000007	Autosomal recessive inheritance	1811	SLC26A3	OMIM:214700
HP:0000007	Autosomal recessive inheritance	23396	PIP5K1C	OMIM:611369
HP:0000007	Autosomal recessive inheritance	7274	TTPA	OMIM:277460
HP:0000007	Autosomal recessive inheritance	471	ATIC	OMIM:608688
HP:0000007	Autosomal recessive inheritance	81031	SLC2A10	OMIM:208050
HP:0000007	Autosomal recessive inheritance	10324	KLHL41	OMIM:615731
HP:0000007	Autosomal recessive inheritance	26047	CNTNAP2	OMIM:610042
HP:0000007	Autosomal recessive inheritance	5885	RAD21	OMIM:611376
HP:0000007	Autosomal recessive inheritance	11023	VAX1	OMIM:614402
HP:0000007	Autosomal recessive inheritance	57704	GBA2	OMIM:614409
HP:0000007	Autosomal recessive inheritance	710	SERPING1	OMIM:106100
HP:0000007	Autosomal recessive inheritance	4313	MMP2	OMIM:259600
HP:0000007	Autosomal recessive inheritance	285440	CYP4V2	OMIM:210370
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:226700
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:619785
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:619786
HP:0000007	Autosomal recessive inheritance	25861	WHRN	OMIM:611383
HP:0000007	Autosomal recessive inheritance	25861	WHRN	OMIM:607084
HP:0000007	Autosomal recessive inheritance	56603	CYP26B1	OMIM:614416
HP:0000007	Autosomal recessive inheritance	7450	VWF	OMIM:277480
HP:0000007	Autosomal recessive inheritance	7450	VWF	OMIM:613554
HP:0000007	Autosomal recessive inheritance	4878	NPPA	OMIM:615745
HP:0000007	Autosomal recessive inheritance	23064	SETX	OMIM:606002
HP:0000007	Autosomal recessive inheritance	57094	CPA6	OMIM:614417
HP:0000007	Autosomal recessive inheritance	57094	CPA6	OMIM:614418
HP:0000007	Autosomal recessive inheritance	6888	TALDO1	OMIM:606003
HP:0000007	Autosomal recessive inheritance	6309	SC5D	OMIM:607330
HP:0000007	Autosomal recessive inheritance	54808	DYM	OMIM:607326
HP:0000007	Autosomal recessive inheritance	54808	DYM	OMIM:223800
HP:0000007	Autosomal recessive inheritance	2982	GUCY1A1	OMIM:615750
HP:0000007	Autosomal recessive inheritance	631	BFSP1	OMIM:611391
HP:0000007	Autosomal recessive inheritance	1356	CP	OMIM:604290
HP:0000007	Autosomal recessive inheritance	1643	DDB2	OMIM:278740
HP:0000007	Autosomal recessive inheritance	1776	DNASE1L3	OMIM:614420
HP:0000007	Autosomal recessive inheritance	763	CA5A	OMIM:615751
HP:0000007	Autosomal recessive inheritance	3932	LCK	OMIM:615758
HP:0000007	Autosomal recessive inheritance	65062	TMEM237	OMIM:614424
HP:0000007	Autosomal recessive inheritance	4803	NGF	OMIM:608654
HP:0000007	Autosomal recessive inheritance	8556	CDC14A	OMIM:608653
HP:0000007	Autosomal recessive inheritance	27249	MMADHC	OMIM:277410
HP:0000007	Autosomal recessive inheritance	4173	MCM4	OMIM:609981
HP:0000007	Autosomal recessive inheritance	10999	SLC27A4	OMIM:608649
HP:0000007	Autosomal recessive inheritance	54768	HYDIN	OMIM:608647
HP:0000007	Autosomal recessive inheritance	55187	VPS13D	OMIM:607317
HP:0000007	Autosomal recessive inheritance	5859	QARS1	OMIM:615760
HP:0000007	Autosomal recessive inheritance	164656	TMPRSS6	OMIM:206200
HP:0000007	Autosomal recessive inheritance	6813	STXBP2	OMIM:613101
HP:0000007	Autosomal recessive inheritance	5429	POLH	OMIM:278750
HP:0000007	Autosomal recessive inheritance	1825	DSC3	OMIM:613102
HP:0000007	Autosomal recessive inheritance	30008	EFEMP2	OMIM:614437
HP:0000007	Autosomal recessive inheritance	10273	STUB1	OMIM:615768
HP:0000007	Autosomal recessive inheritance	59067	IL21	OMIM:615767
HP:0000007	Autosomal recessive inheritance	90678	LRSAM1	OMIM:614436
HP:0000007	Autosomal recessive inheritance	1644	DDC	OMIM:608643
HP:0000007	Autosomal recessive inheritance	6443	SGCB	OMIM:604286
HP:0000007	Autosomal recessive inheritance	64581	CLEC7A	OMIM:613108
HP:0000007	Autosomal recessive inheritance	1767	DNAH5	OMIM:608644
HP:0000007	Autosomal recessive inheritance	3033	HADH	OMIM:609975
HP:0000007	Autosomal recessive inheritance	3033	HADH	OMIM:231530
HP:0000007	Autosomal recessive inheritance	64221	ROBO3	OMIM:607313
HP:0000007	Autosomal recessive inheritance	8671	SLC4A4	OMIM:604278
HP:0000007	Autosomal recessive inheritance	6578	SLCO2A1	OMIM:614441
HP:0000007	Autosomal recessive inheritance	9631	NUP155	OMIM:615770
HP:0000007	Autosomal recessive inheritance	79572	ATP13A3	OMIM:265400
HP:0000007	Autosomal recessive inheritance	22861	NLRP1	OMIM:618803
HP:0000007	Autosomal recessive inheritance	22861	NLRP1	OMIM:617388
HP:0000007	Autosomal recessive inheritance	23511	NUP188	OMIM:618804
HP:0000007	Autosomal recessive inheritance	26007	TKFC	OMIM:618805
HP:0000007	Autosomal recessive inheritance	22917	ZP1	OMIM:615774
HP:0000007	Autosomal recessive inheritance	54974	THG1L	OMIM:618800
HP:0000007	Autosomal recessive inheritance	462	SERPINC1	OMIM:613118
HP:0000007	Autosomal recessive inheritance	54970	TTC12	OMIM:618801
HP:0000007	Autosomal recessive inheritance	20	ABCA2	OMIM:618808
HP:0000007	Autosomal recessive inheritance	91647	ATPAF2	OMIM:604273
HP:0000007	Autosomal recessive inheritance	54806	AHI1	OMIM:608629
HP:0000007	Autosomal recessive inheritance	9420	CYP7B1	OMIM:270800
HP:0000007	Autosomal recessive inheritance	9420	CYP7B1	OMIM:613812
HP:0000007	Autosomal recessive inheritance	55163	PNPO	OMIM:610090
HP:0000007	Autosomal recessive inheritance	338917	VSX2	OMIM:610092
HP:0000007	Autosomal recessive inheritance	338917	VSX2	OMIM:610093
HP:0000007	Autosomal recessive inheritance	55857	KIZ	OMIM:615780
HP:0000007	Autosomal recessive inheritance	7421	VDR	OMIM:277440
HP:0000007	Autosomal recessive inheritance	55210	ATAD3A	OMIM:618810
HP:0000007	Autosomal recessive inheritance	55210	ATAD3A	OMIM:617183
HP:0000007	Autosomal recessive inheritance	89874	SLC25A21	OMIM:618811
HP:0000007	Autosomal recessive inheritance	6785	ELOVL4	OMIM:614457
HP:0000007	Autosomal recessive inheritance	9419	CRIPT	OMIM:615789
HP:0000007	Autosomal recessive inheritance	27010	TPK1	OMIM:614458
HP:0000007	Autosomal recessive inheritance	10269	ZMPSTE24	OMIM:608612
HP:0000007	Autosomal recessive inheritance	10269	ZMPSTE24	OMIM:275210
HP:0000007	Autosomal recessive inheritance	11019	LIAS	OMIM:614462
HP:0000007	Autosomal recessive inheritance	58494	JAM2	OMIM:618824
HP:0000007	Autosomal recessive inheritance	94137	RP1L1	OMIM:618826
HP:0000007	Autosomal recessive inheritance	4337	MOCS1	OMIM:252150
HP:0000007	Autosomal recessive inheritance	95681	CEP41	OMIM:614464
HP:0000007	Autosomal recessive inheritance	6531	SLC6A3	OMIM:613135
HP:0000007	Autosomal recessive inheritance	51524	TMEM138	OMIM:614465
HP:0000007	Autosomal recessive inheritance	91461	PKDCC	OMIM:618821
HP:0000007	Autosomal recessive inheritance	8087	FXR1	OMIM:618822
HP:0000007	Autosomal recessive inheritance	8087	FXR1	OMIM:618823
HP:0000007	Autosomal recessive inheritance	22934	RPIA	OMIM:608611
HP:0000007	Autosomal recessive inheritance	7036	TFR2	OMIM:604250
HP:0000007	Autosomal recessive inheritance	7507	XPA	OMIM:278700
HP:0000007	Autosomal recessive inheritance	128178	EDARADD	OMIM:224900
HP:0000007	Autosomal recessive inheritance	128178	EDARADD	OMIM:614941
HP:0000007	Autosomal recessive inheritance	10913	EDAR	OMIM:224900
HP:0000007	Autosomal recessive inheritance	55278	QRSL1	OMIM:618835
HP:0000007	Autosomal recessive inheritance	11005	SPINK5	OMIM:256500
HP:0000007	Autosomal recessive inheritance	5188	GATB	OMIM:618838
HP:0000007	Autosomal recessive inheritance	55704	CCDC88A	OMIM:617507
HP:0000007	Autosomal recessive inheritance	3587	IL10RA	OMIM:613148
HP:0000007	Autosomal recessive inheritance	283459	GATC	OMIM:618839
HP:0000007	Autosomal recessive inheritance	3094	HINT1	OMIM:137200
HP:0000007	Autosomal recessive inheritance	95	ACY1	OMIM:609924
HP:0000007	Autosomal recessive inheritance	2819	GPD1	OMIM:614480
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613150
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613156
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613158
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:236670
HP:0000007	Autosomal recessive inheritance	7018	TF	OMIM:209300
HP:0000007	Autosomal recessive inheritance	9197	SLC33A1	OMIM:614482
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:613153
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:606612
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:607155
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:236670
HP:0000007	Autosomal recessive inheritance	27040	LAT	OMIM:617514
HP:0000007	Autosomal recessive inheritance	57591	MRTFA	OMIM:618847
HP:0000007	Autosomal recessive inheritance	64208	POPDC3	OMIM:618848
HP:0000007	Autosomal recessive inheritance	10939	AFG3L2	OMIM:614487
HP:0000007	Autosomal recessive inheritance	63929	XPNPEP3	OMIM:613159
HP:0000007	Autosomal recessive inheritance	55191	NADSYN1	OMIM:618845
HP:0000007	Autosomal recessive inheritance	63916	ELMO2	OMIM:606893
HP:0000007	Autosomal recessive inheritance	55812	SPATA7	OMIM:604232
HP:0000007	Autosomal recessive inheritance	57731	SPTBN4	OMIM:617519
HP:0000007	Autosomal recessive inheritance	7508	XPC	OMIM:278720
HP:0000007	Autosomal recessive inheritance	23155	CLCC1	OMIM:609913
HP:0000007	Autosomal recessive inheritance	587	BCAT2	OMIM:618850
HP:0000007	Autosomal recessive inheritance	29928	TIMM22	OMIM:618851
HP:0000007	Autosomal recessive inheritance	51733	UPB1	OMIM:613161
HP:0000007	Autosomal recessive inheritance	26249	KLHL3	OMIM:614495
HP:0000007	Autosomal recessive inheritance	18	ABAT	OMIM:613163
HP:0000007	Autosomal recessive inheritance	22978	NT5C2	OMIM:613162
HP:0000007	Autosomal recessive inheritance	7456	WIPF1	OMIM:614493
HP:0000007	Autosomal recessive inheritance	2815	GP9	OMIM:231200
HP:0000007	Autosomal recessive inheritance	2811	GP1BA	OMIM:231200
HP:0000007	Autosomal recessive inheritance	2811	GP1BA	OMIM:258660
HP:0000007	Autosomal recessive inheritance	2812	GP1BB	OMIM:231200
HP:0000007	Autosomal recessive inheritance	8738	CRADD	OMIM:614499
HP:0000007	Autosomal recessive inheritance	3630	INS	OMIM:618858
HP:0000007	Autosomal recessive inheritance	9181	ARHGEF2	OMIM:617523
HP:0000007	Autosomal recessive inheritance	7957	EPM2A	OMIM:254780
HP:0000007	Autosomal recessive inheritance	378884	NHLRC1	OMIM:254780
HP:0000007	Autosomal recessive inheritance	25871	NEPRO	OMIM:618853
HP:0000007	Autosomal recessive inheritance	9373	PLAA	OMIM:617527
HP:0000007	Autosomal recessive inheritance	22868	FASTKD2	OMIM:618855
HP:0000007	Autosomal recessive inheritance	2531	KDSR	OMIM:617526
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:278730
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:610756
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:601675
HP:0000007	Autosomal recessive inheritance	25974	MMACHC	OMIM:277400
HP:0000007	Autosomal recessive inheritance	5052	PRDX1	OMIM:277400
HP:0000007	Autosomal recessive inheritance	1718	DHCR24	OMIM:602398
HP:0000007	Autosomal recessive inheritance	2549	GAB1	OMIM:605428
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:601067
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:609533
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:602083
HP:0000007	Autosomal recessive inheritance	51399	TRAPPC4	OMIM:618741
HP:0000007	Autosomal recessive inheritance	720	C4A	OMIM:614380
HP:0000007	Autosomal recessive inheritance	2304	FOXE1	OMIM:241850
HP:0000007	Autosomal recessive inheritance	10059	DNM1L	OMIM:614388
HP:0000007	Autosomal recessive inheritance	7360	UGP2	OMIM:618744
HP:0000007	Autosomal recessive inheritance	83894	TTC29	OMIM:618745
HP:0000007	Autosomal recessive inheritance	148738	HJV	OMIM:602390
HP:0000007	Autosomal recessive inheritance	6331	SCN5A	OMIM:272120
HP:0000007	Autosomal recessive inheritance	6331	SCN5A	OMIM:608567
HP:0000007	Autosomal recessive inheritance	5932	RBBP8	OMIM:606744
HP:0000007	Autosomal recessive inheritance	5932	RBBP8	OMIM:251255
HP:0000007	Autosomal recessive inheritance	79925	SPEF2	OMIM:618751
HP:0000007	Autosomal recessive inheritance	5651	TMPRSS15	OMIM:226200
HP:0000007	Autosomal recessive inheritance	2348	FOLR1	OMIM:613068
HP:0000007	Autosomal recessive inheritance	2137	EXTL3	OMIM:617425
HP:0000007	Autosomal recessive inheritance	5184	PEPD	OMIM:170100
HP:0000007	Autosomal recessive inheritance	84466	MEGF10	OMIM:614399
HP:0000007	Autosomal recessive inheritance	79158	GNPTAB	OMIM:252500
HP:0000007	Autosomal recessive inheritance	79158	GNPTAB	OMIM:252600
HP:0000007	Autosomal recessive inheritance	7054	TH	OMIM:605407
HP:0000007	Autosomal recessive inheritance	57589	RIC1	OMIM:618761
HP:0000007	Autosomal recessive inheritance	55687	TRMU	OMIM:613070
HP:0000007	Autosomal recessive inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000007	Autosomal recessive inheritance	4318	MMP9	OMIM:613073
HP:0000007	Autosomal recessive inheritance	317662	FAM149B1	OMIM:618763
HP:0000007	Autosomal recessive inheritance	1513	CTSK	OMIM:265800
HP:0000007	Autosomal recessive inheritance	54453	RIN2	OMIM:613075
HP:0000007	Autosomal recessive inheritance	23370	ARHGEF18	OMIM:617433
HP:0000007	Autosomal recessive inheritance	6884	TAF13	OMIM:617432
HP:0000007	Autosomal recessive inheritance	2671	GFER	OMIM:613076
HP:0000007	Autosomal recessive inheritance	125336	LOXHD1	OMIM:613079
HP:0000007	Autosomal recessive inheritance	10111	RAD50	OMIM:613078
HP:0000007	Autosomal recessive inheritance	3064	HTT	OMIM:617435
HP:0000007	Autosomal recessive inheritance	55681	SCYL2	OMIM:618766
HP:0000007	Autosomal recessive inheritance	51109	RDH11	OMIM:616108
HP:0000007	Autosomal recessive inheritance	85465	SELENOI	OMIM:618768
HP:0000007	Autosomal recessive inheritance	1528	CYB5A	OMIM:250790
HP:0000007	Autosomal recessive inheritance	8659	ALDH4A1	OMIM:239510
HP:0000007	Autosomal recessive inheritance	84733	CBX2	OMIM:613080
HP:0000007	Autosomal recessive inheritance	10203	CALCRL	OMIM:618773
HP:0000007	Autosomal recessive inheritance	7386	UQCRFS1	OMIM:618775
HP:0000007	Autosomal recessive inheritance	23312	DMXL2	OMIM:616113
HP:0000007	Autosomal recessive inheritance	23312	DMXL2	OMIM:618663
HP:0000007	Autosomal recessive inheritance	2313	FLI1	OMIM:617443
HP:0000007	Autosomal recessive inheritance	4439	MSH5	OMIM:617442
HP:0000007	Autosomal recessive inheritance	4439	MSH5	OMIM:619937
HP:0000007	Autosomal recessive inheritance	5833	PCYT2	OMIM:618770
HP:0000007	Autosomal recessive inheritance	790955	UQCC3	OMIM:616111
HP:0000007	Autosomal recessive inheritance	80739	MPIG6B	OMIM:617441
HP:0000007	Autosomal recessive inheritance	3340	NDST1	OMIM:616116
HP:0000007	Autosomal recessive inheritance	284184	NDUFAF8	OMIM:618776
HP:0000007	Autosomal recessive inheritance	11081	KERA	OMIM:217300
HP:0000007	Autosomal recessive inheritance	79659	DYNC2H1	OMIM:613091
HP:0000007	Autosomal recessive inheritance	11285	B4GALT7	OMIM:130070
HP:0000007	Autosomal recessive inheritance	5146	PDE6C	OMIM:613093
HP:0000007	Autosomal recessive inheritance	5314	PKHD1	OMIM:263200
HP:0000007	Autosomal recessive inheritance	152110	NEK10	OMIM:618781
HP:0000007	Autosomal recessive inheritance	51633	OTUD6B	OMIM:617452
HP:0000007	Autosomal recessive inheritance	55280	CWF19L1	OMIM:616127
HP:0000007	Autosomal recessive inheritance	9636	ISG15	OMIM:616126
HP:0000007	Autosomal recessive inheritance	144811	LACC1	OMIM:618795
HP:0000007	Autosomal recessive inheritance	253959	RALGAPA1	OMIM:618797
HP:0000007	Autosomal recessive inheritance	7358	UGDH	OMIM:618792
HP:0000007	Autosomal recessive inheritance	163175	LGI4	OMIM:617468
HP:0000007	Autosomal recessive inheritance	200424	TET3	OMIM:618798
HP:0000007	Autosomal recessive inheritance	79728	PALB2	OMIM:610832
HP:0000007	Autosomal recessive inheritance	487	ATP2A1	OMIM:601003
HP:0000007	Autosomal recessive inheritance	3861	KRT14	OMIM:601001
HP:0000007	Autosomal recessive inheritance	5917	RARS1	OMIM:616140
HP:0000007	Autosomal recessive inheritance	23483	TGDS	OMIM:616145
HP:0000007	Autosomal recessive inheritance	2395	FXN	OMIM:229300
HP:0000007	Autosomal recessive inheritance	6603	SMARCD2	OMIM:617475
HP:0000007	Autosomal recessive inheritance	54916	TMEM260	OMIM:617478
HP:0000007	Autosomal recessive inheritance	79648	MCPH1	OMIM:251200
HP:0000007	Autosomal recessive inheritance	58497	PRUNE1	OMIM:617481
HP:0000007	Autosomal recessive inheritance	84188	FAR1	OMIM:616154
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:204000
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:601777
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:618555
HP:0000007	Autosomal recessive inheritance	51314	NME8	OMIM:610852
HP:0000007	Autosomal recessive inheritance	4921	DDR2	OMIM:271665
HP:0000007	Autosomal recessive inheritance	56203	LMOD3	OMIM:616165
HP:0000007	Autosomal recessive inheritance	3081	HGD	OMIM:203500
HP:0000007	Autosomal recessive inheritance	7038	TG	OMIM:274700
HP:0000007	Autosomal recessive inheritance	10733	PLK4	OMIM:616171
HP:0000007	Autosomal recessive inheritance	5148	PDE6G	OMIM:268000
HP:0000007	Autosomal recessive inheritance	5148	PDE6G	OMIM:613582
HP:0000007	Autosomal recessive inheritance	1259	CNGA1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	1259	CNGA1	OMIM:613756
HP:0000007	Autosomal recessive inheritance	1406	CRX	OMIM:268000
HP:0000007	Autosomal recessive inheritance	1406	CRX	OMIM:613829
HP:0000007	Autosomal recessive inheritance	55243	KIRREL1	OMIM:619201
HP:0000007	Autosomal recessive inheritance	317761	C14orf39	OMIM:619202
HP:0000007	Autosomal recessive inheritance	317761	C14orf39	OMIM:619203
HP:0000007	Autosomal recessive inheritance	11277	TREX1	OMIM:225750
HP:0000007	Autosomal recessive inheritance	5568	PRKACG	OMIM:616176
HP:0000007	Autosomal recessive inheritance	64065	PERP	OMIM:619209
HP:0000007	Autosomal recessive inheritance	4010	LMX1B	OMIM:256020
HP:0000007	Autosomal recessive inheritance	7007	TECTA	OMIM:603629
HP:0000007	Autosomal recessive inheritance	254394	MCM9	OMIM:616185
HP:0000007	Autosomal recessive inheritance	57007	ACKR3	OMIM:619215
HP:0000007	Autosomal recessive inheritance	7275	TUB	OMIM:616188
HP:0000007	Autosomal recessive inheritance	64856	VWA1	OMIM:619216
HP:0000007	Autosomal recessive inheritance	439	GET3	OMIM:620203
HP:0000007	Autosomal recessive inheritance	2019	EN1	OMIM:619218
HP:0000007	Autosomal recessive inheritance	1675	CFD	OMIM:613912
HP:0000007	Autosomal recessive inheritance	819	CAMLG	OMIM:620201
HP:0000007	Autosomal recessive inheritance	51608	GET4	OMIM:620200
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:613916
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:619196
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:619147
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:613641
HP:0000007	Autosomal recessive inheritance	56776	FMN2	OMIM:616193
HP:0000007	Autosomal recessive inheritance	5611	DNAJC3	OMIM:616192
HP:0000007	Autosomal recessive inheritance	6390	SDHB	OMIM:619224
HP:0000007	Autosomal recessive inheritance	1830	DSG3	OMIM:619226
HP:0000007	Autosomal recessive inheritance	7174	TPP2	OMIM:619220
HP:0000007	Autosomal recessive inheritance	58472	SQOR	OMIM:619221
HP:0000007	Autosomal recessive inheritance	2992	GYG1	OMIM:616199
HP:0000007	Autosomal recessive inheritance	2992	GYG1	OMIM:613507
HP:0000007	Autosomal recessive inheritance	84705	GTPBP3	OMIM:616198
HP:0000007	Autosomal recessive inheritance	9049	AIP	OMIM:219090
HP:0000007	Autosomal recessive inheritance	9101	USP8	OMIM:219090
HP:0000007	Autosomal recessive inheritance	6297	SALL2	OMIM:216820
HP:0000007	Autosomal recessive inheritance	220296	HEPACAM	OMIM:613925
HP:0000007	Autosomal recessive inheritance	220296	HEPACAM	OMIM:604004
HP:0000007	Autosomal recessive inheritance	8883	NAE1	OMIM:620210
HP:0000007	Autosomal recessive inheritance	55186	SLC25A36	OMIM:620211
HP:0000007	Autosomal recessive inheritance	9563	H6PD	OMIM:604931
HP:0000007	Autosomal recessive inheritance	84265	POLR3GL	OMIM:619234
HP:0000007	Autosomal recessive inheritance	4158	MC2R	OMIM:202200
HP:0000007	Autosomal recessive inheritance	2155	F7	OMIM:227500
HP:0000007	Autosomal recessive inheritance	570	BAAT	OMIM:619232
HP:0000007	Autosomal recessive inheritance	4070	TACSTD2	OMIM:204870
HP:0000007	Autosomal recessive inheritance	920	CD4	OMIM:619238
HP:0000007	Autosomal recessive inheritance	435	ASL	OMIM:207900
HP:0000007	Autosomal recessive inheritance	6608	SMO	OMIM:241800
HP:0000007	Autosomal recessive inheritance	31	ACACA	OMIM:613933
HP:0000007	Autosomal recessive inheritance	3248	HPGD	OMIM:259100
HP:0000007	Autosomal recessive inheritance	3248	HPGD	OMIM:119900
HP:0000007	Autosomal recessive inheritance	286	ANK1	OMIM:182900
HP:0000007	Autosomal recessive inheritance	1041	CDSN	OMIM:270300
HP:0000007	Autosomal recessive inheritance	493856	CISD2	OMIM:604928
HP:0000007	Autosomal recessive inheritance	11077	HSF2BP	OMIM:619245
HP:0000007	Autosomal recessive inheritance	55640	FLVCR2	OMIM:225790
HP:0000007	Autosomal recessive inheritance	91875	TTC5	OMIM:619244
HP:0000007	Autosomal recessive inheritance	100127206	MINAR2	OMIM:620238
HP:0000007	Autosomal recessive inheritance	643418	LIPN	OMIM:613943
HP:0000007	Autosomal recessive inheritance	54800	KLHL24	OMIM:620236
HP:0000007	Autosomal recessive inheritance	5625	PRODH	OMIM:239500
HP:0000007	Autosomal recessive inheritance	10551	AGR2	OMIM:620233
HP:0000007	Autosomal recessive inheritance	60386	SLC25A19	OMIM:607196
HP:0000007	Autosomal recessive inheritance	60386	SLC25A19	OMIM:613710
HP:0000007	Autosomal recessive inheritance	10436	EMG1	OMIM:211180
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219900
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219800
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219750
HP:0000007	Autosomal recessive inheritance	6554	SLC10A1	OMIM:619256
HP:0000007	Autosomal recessive inheritance	284382	ACTL9	OMIM:619258
HP:0000007	Autosomal recessive inheritance	1315	COPB1	OMIM:619255
HP:0000007	Autosomal recessive inheritance	84464	SLX4	OMIM:613951
HP:0000007	Autosomal recessive inheritance	23765	IL17RA	OMIM:613953
HP:0000007	Autosomal recessive inheritance	779	CACNA1S	OMIM:620246
HP:0000007	Autosomal recessive inheritance	283417	DPY19L2	OMIM:613958
HP:0000007	Autosomal recessive inheritance	55901	THSD1	OMIM:620244
HP:0000007	Autosomal recessive inheritance	10079	ATP9A	OMIM:620242
HP:0000007	Autosomal recessive inheritance	2801	GOLGA2	OMIM:620240
HP:0000007	Autosomal recessive inheritance	64802	NMNAT1	OMIM:619260
HP:0000007	Autosomal recessive inheritance	64802	NMNAT1	OMIM:608553
HP:0000007	Autosomal recessive inheritance	3690	ITGB3	OMIM:619267
HP:0000007	Autosomal recessive inheritance	1893	ECM1	OMIM:247100
HP:0000007	Autosomal recessive inheritance	55181	SMG8	OMIM:619268
HP:0000007	Autosomal recessive inheritance	8516	ITGA8	OMIM:191830
HP:0000007	Autosomal recessive inheritance	375056	MIA3	OMIM:619269
HP:0000007	Autosomal recessive inheritance	23500	DAAM2	OMIM:619263
HP:0000007	Autosomal recessive inheritance	284361	EMC10	OMIM:619264
HP:0000007	Autosomal recessive inheritance	4689	NCF4	OMIM:613960
HP:0000007	Autosomal recessive inheritance	203	AK1	OMIM:612631
HP:0000007	Autosomal recessive inheritance	10749	KIF1C	OMIM:611302
HP:0000007	Autosomal recessive inheritance	5696	PSMB8	OMIM:256040
HP:0000007	Autosomal recessive inheritance	5138	PDE2A	OMIM:619150
HP:0000007	Autosomal recessive inheritance	6770	STAR	OMIM:201710
HP:0000007	Autosomal recessive inheritance	9722	NOS1AP	OMIM:619155
HP:0000007	Autosomal recessive inheritance	1593	CYP27A1	OMIM:213700
HP:0000007	Autosomal recessive inheritance	781	CACNA2D1	OMIM:620149
HP:0000007	Autosomal recessive inheritance	857	CAV1	OMIM:612526
HP:0000007	Autosomal recessive inheritance	2780	GNAT2	OMIM:613856
HP:0000007	Autosomal recessive inheritance	80144	FRAS1	OMIM:219000
HP:0000007	Autosomal recessive inheritance	9313	MMP20	OMIM:612529
HP:0000007	Autosomal recessive inheritance	23149	FCHO1	OMIM:619164
HP:0000007	Autosomal recessive inheritance	1638	DCT	OMIM:619165
HP:0000007	Autosomal recessive inheritance	644096	SDHAF1	OMIM:619166
HP:0000007	Autosomal recessive inheritance	6392	SDHD	OMIM:619167
HP:0000007	Autosomal recessive inheritance	8547	FCN3	OMIM:613860
HP:0000007	Autosomal recessive inheritance	10461	MERTK	OMIM:613862
HP:0000007	Autosomal recessive inheritance	79947	DHDDS	OMIM:613861
HP:0000007	Autosomal recessive inheritance	841	CASP8	OMIM:607271
HP:0000007	Autosomal recessive inheritance	375611	SLC26A5	OMIM:613865
HP:0000007	Autosomal recessive inheritance	1410	CRYAB	OMIM:613869
HP:0000007	Autosomal recessive inheritance	1410	CRYAB	OMIM:613763
HP:0000007	Autosomal recessive inheritance	26153	KIF26A	OMIM:620156
HP:0000007	Autosomal recessive inheritance	9382	COG1	OMIM:611209
HP:0000007	Autosomal recessive inheritance	338657	CENATAC	OMIM:620153
HP:0000007	Autosomal recessive inheritance	678	ZFP36L2	OMIM:620154
HP:0000007	Autosomal recessive inheritance	63915	BLOC1S5	OMIM:619172
HP:0000007	Autosomal recessive inheritance	645104	CLRN2	OMIM:619174
HP:0000007	Autosomal recessive inheritance	4718	NDUFC2	OMIM:619170
HP:0000007	Autosomal recessive inheritance	5699	PSMB10	OMIM:619175
HP:0000007	Autosomal recessive inheritance	283677	REC114	OMIM:619176
HP:0000007	Autosomal recessive inheritance	89876	CFAP91	OMIM:619177
HP:0000007	Autosomal recessive inheritance	1272	CNTN1	OMIM:612540
HP:0000007	Autosomal recessive inheritance	92579	G6PC3	OMIM:612541
HP:0000007	Autosomal recessive inheritance	1801	DPH1	OMIM:616901
HP:0000007	Autosomal recessive inheritance	93627	TBCK	OMIM:616900
HP:0000007	Autosomal recessive inheritance	9570	GOSR2	OMIM:620166
HP:0000007	Autosomal recessive inheritance	9570	GOSR2	OMIM:614018
HP:0000007	Autosomal recessive inheritance	54675	CRLS1	OMIM:620167
HP:0000007	Autosomal recessive inheritance	823	CAPN1	OMIM:616907
HP:0000007	Autosomal recessive inheritance	10555	AGPAT2	OMIM:608594
HP:0000007	Autosomal recessive inheritance	5313	PKLR	OMIM:266200
HP:0000007	Autosomal recessive inheritance	56984	PSMG2	OMIM:619183
HP:0000007	Autosomal recessive inheritance	222663	SCUBE3	OMIM:619184
HP:0000007	Autosomal recessive inheritance	80726	IQCN	OMIM:620170
HP:0000007	Autosomal recessive inheritance	23116	TOGARAM1	OMIM:619185
HP:0000007	Autosomal recessive inheritance	51371	POMP	OMIM:601952
HP:0000007	Autosomal recessive inheritance	6687	SPG7	OMIM:607259
HP:0000007	Autosomal recessive inheritance	8557	TCAP	OMIM:601954
HP:0000007	Autosomal recessive inheritance	6999	TDO2	OMIM:600627
HP:0000007	Autosomal recessive inheritance	55148	UBR7	OMIM:619189
HP:0000007	Autosomal recessive inheritance	55775	TDP1	OMIM:607250
HP:0000007	Autosomal recessive inheritance	2492	FSHR	OMIM:233300
HP:0000007	Autosomal recessive inheritance	23545	ATP6V0A2	OMIM:278250
HP:0000007	Autosomal recessive inheritance	23545	ATP6V0A2	OMIM:219200
HP:0000007	Autosomal recessive inheritance	79867	TCTN2	OMIM:613885
HP:0000007	Autosomal recessive inheritance	79867	TCTN2	OMIM:616654
HP:0000007	Autosomal recessive inheritance	3070	HELLS	OMIM:616911
HP:0000007	Autosomal recessive inheritance	11160	ERLIN2	OMIM:611225
HP:0000007	Autosomal recessive inheritance	83879	CDCA7	OMIM:616910
HP:0000007	Autosomal recessive inheritance	23424	TDRD7	OMIM:613887
HP:0000007	Autosomal recessive inheritance	54872	PIGG	OMIM:616917
HP:0000007	Autosomal recessive inheritance	79669	C3orf52	OMIM:620177
HP:0000007	Autosomal recessive inheritance	699	BUB1	OMIM:620183
HP:0000007	Autosomal recessive inheritance	9653	HS2ST1	OMIM:619194
HP:0000007	Autosomal recessive inheritance	84138	SLC7A6OS	OMIM:619191
HP:0000007	Autosomal recessive inheritance	5447	POR	OMIM:201750
HP:0000007	Autosomal recessive inheritance	5447	POR	OMIM:613571
HP:0000007	Autosomal recessive inheritance	56006	SMG9	OMIM:616920
HP:0000007	Autosomal recessive inheritance	56006	SMG9	OMIM:619995
HP:0000007	Autosomal recessive inheritance	10846	PDE10A	OMIM:616921
HP:0000007	Autosomal recessive inheritance	3588	IL10RB	OMIM:612567
HP:0000007	Autosomal recessive inheritance	5649	RELN	OMIM:257320
HP:0000007	Autosomal recessive inheritance	55719	SLF2	OMIM:620184
HP:0000007	Autosomal recessive inheritance	23137	SMC5	OMIM:620185
HP:0000007	Autosomal recessive inheritance	10907	TXNL4A	OMIM:608572
HP:0000007	Autosomal recessive inheritance	55343	SLC35C1	OMIM:266265
HP:0000007	Autosomal recessive inheritance	79759	ZNF668	OMIM:620194
HP:0000007	Autosomal recessive inheritance	283209	PGM2L1	OMIM:620191
HP:0000007	Autosomal recessive inheritance	1737	DLAT	OMIM:245348
HP:0000007	Autosomal recessive inheritance	8050	PDHX	OMIM:245349
HP:0000007	Autosomal recessive inheritance	6473	SHOX	OMIM:249700
HP:0000007	Autosomal recessive inheritance	3420	IDH3B	OMIM:612572
HP:0000007	Autosomal recessive inheritance	2512	FTL	OMIM:615604
HP:0000007	Autosomal recessive inheritance	54112	GPR88	OMIM:616939
HP:0000007	Autosomal recessive inheritance	917	CD3G	OMIM:615607
HP:0000007	Autosomal recessive inheritance	84946	LTV1	OMIM:620199
HP:0000007	Autosomal recessive inheritance	2103	ESRRB	OMIM:608565
HP:0000007	Autosomal recessive inheritance	85452	CFAP74	OMIM:620197
HP:0000007	Autosomal recessive inheritance	7234	TRU-TCA1-1	OMIM:620198
HP:0000007	Autosomal recessive inheritance	157855	KCNU1	OMIM:620196
HP:0000007	Autosomal recessive inheritance	3339	HSPG2	OMIM:224410
HP:0000007	Autosomal recessive inheritance	3339	HSPG2	OMIM:255800
HP:0000007	Autosomal recessive inheritance	916	CD3E	OMIM:615615
HP:0000007	Autosomal recessive inheritance	2961	GTF2E2	OMIM:616943
HP:0000007	Autosomal recessive inheritance	51567	TDP2	OMIM:616949
HP:0000007	Autosomal recessive inheritance	200403	VWA3B	OMIM:616948
HP:0000007	Autosomal recessive inheritance	915	CD3D	OMIM:615617
HP:0000007	Autosomal recessive inheritance	93426	SYCE1	OMIM:616947
HP:0000007	Autosomal recessive inheritance	93426	SYCE1	OMIM:616950
HP:0000007	Autosomal recessive inheritance	701	BUB1B	OMIM:257300
HP:0000007	Autosomal recessive inheritance	64788	LMF1	OMIM:246650
HP:0000007	Autosomal recessive inheritance	57560	IFT80	OMIM:611263
HP:0000007	Autosomal recessive inheritance	51308	REEP2	OMIM:615625
HP:0000007	Autosomal recessive inheritance	9894	TELO2	OMIM:616954
HP:0000007	Autosomal recessive inheritance	51095	TRNT1	OMIM:616959
HP:0000007	Autosomal recessive inheritance	51095	TRNT1	OMIM:616084
HP:0000007	Autosomal recessive inheritance	56052	ALG1	OMIM:608540
HP:0000007	Autosomal recessive inheritance	8518	ELP1	OMIM:223900
HP:0000007	Autosomal recessive inheritance	8518	ELP1	OMIM:155255
HP:0000007	Autosomal recessive inheritance	84627	ZNF469	OMIM:229200
HP:0000007	Autosomal recessive inheritance	89891	DYNC2I2	OMIM:615633
HP:0000007	Autosomal recessive inheritance	2584	GALK1	OMIM:230200
HP:0000007	Autosomal recessive inheritance	84529	CDIN1	OMIM:615631
HP:0000007	Autosomal recessive inheritance	132	ADK	OMIM:614300
HP:0000007	Autosomal recessive inheritance	79848	CSPP1	OMIM:615636
HP:0000007	Autosomal recessive inheritance	11133	KPTN	OMIM:615637
HP:0000007	Autosomal recessive inheritance	50506	DUOX2	OMIM:607200
HP:0000007	Autosomal recessive inheritance	23600	AMACR	OMIM:614307
HP:0000007	Autosomal recessive inheritance	23600	AMACR	OMIM:214950
HP:0000007	Autosomal recessive inheritance	79650	USB1	OMIM:604173
HP:0000007	Autosomal recessive inheritance	9150	CTDP1	OMIM:604168
HP:0000007	Autosomal recessive inheritance	9948	WDR1	OMIM:150550
HP:0000007	Autosomal recessive inheritance	3074	HEXB	OMIM:268800
HP:0000007	Autosomal recessive inheritance	27034	ACAD8	OMIM:611283
HP:0000007	Autosomal recessive inheritance	54931	TRMT10C	OMIM:616974
HP:0000007	Autosomal recessive inheritance	7200	TRH	OMIM:275120
HP:0000007	Autosomal recessive inheritance	23732	FRRS1L	OMIM:616981
HP:0000007	Autosomal recessive inheritance	1181	CLCN2	OMIM:615651
HP:0000007	Autosomal recessive inheritance	29893	PSMC3IP	OMIM:614324
HP:0000007	Autosomal recessive inheritance	4358	MPV17	OMIM:256810
HP:0000007	Autosomal recessive inheritance	4358	MPV17	OMIM:618400
HP:0000007	Autosomal recessive inheritance	10342	TFG	OMIM:615658
HP:0000007	Autosomal recessive inheritance	6868	ADAM17	OMIM:614328
HP:0000007	Autosomal recessive inheritance	9378	NRXN1	OMIM:614325
HP:0000007	Autosomal recessive inheritance	84693	MCEE	OMIM:251120
HP:0000007	Autosomal recessive inheritance	3712	IVD	OMIM:243500
HP:0000007	Autosomal recessive inheritance	8647	ABCB11	OMIM:605479
HP:0000007	Autosomal recessive inheritance	8647	ABCB11	OMIM:601847
HP:0000007	Autosomal recessive inheritance	7098	TLR3	OMIM:613002
HP:0000007	Autosomal recessive inheritance	5147	PDE6D	OMIM:615665
HP:0000007	Autosomal recessive inheritance	545	ATR	OMIM:210600
HP:0000007	Autosomal recessive inheritance	128637	TBC1D20	OMIM:615663
HP:0000007	Autosomal recessive inheritance	55969	RAB5IF	OMIM:616994
HP:0000007	Autosomal recessive inheritance	4914	NTRK1	OMIM:256800
HP:0000007	Autosomal recessive inheritance	5406	PNLIP	OMIM:614338
HP:0000007	Autosomal recessive inheritance	326625	MMAB	OMIM:251110
HP:0000007	Autosomal recessive inheritance	84059	ADGRV1	OMIM:605472
HP:0000007	Autosomal recessive inheritance	11078	TRIOBP	OMIM:609823
HP:0000007	Autosomal recessive inheritance	10367	MICU1	OMIM:615673
HP:0000007	Autosomal recessive inheritance	3702	ITK	OMIM:613011
HP:0000007	Autosomal recessive inheritance	55180	LINS1	OMIM:614340
HP:0000007	Autosomal recessive inheritance	1103	CHAT	OMIM:254210
HP:0000007	Autosomal recessive inheritance	189	AGXT	OMIM:259900
HP:0000007	Autosomal recessive inheritance	80152	CENPT	OMIM:618702
HP:0000007	Autosomal recessive inheritance	64805	P2RY12	OMIM:609821
HP:0000007	Autosomal recessive inheritance	3955	LFNG	OMIM:609813
HP:0000007	Autosomal recessive inheritance	953	ENTPD1	OMIM:615683
HP:0000007	Autosomal recessive inheritance	10613	ERLIN1	OMIM:615681
HP:0000007	Autosomal recessive inheritance	23204	ARL6IP1	OMIM:615685
HP:0000007	Autosomal recessive inheritance	5261	PHKG2	OMIM:613027
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:606785
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:218800
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:237900
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:143500
HP:0000007	Autosomal recessive inheritance	84628	NTNG2	OMIM:618718
HP:0000007	Autosomal recessive inheritance	51	ACOX1	OMIM:264470
HP:0000007	Autosomal recessive inheritance	6513	SLC2A1	OMIM:606777
HP:0000007	Autosomal recessive inheritance	204	AK2	OMIM:267500
HP:0000007	Autosomal recessive inheritance	2806	GOT2	OMIM:618721
HP:0000007	Autosomal recessive inheritance	5449	POU1F1	OMIM:613038
HP:0000007	Autosomal recessive inheritance	7473	WNT3	OMIM:273395
HP:0000007	Autosomal recessive inheritance	8086	AAAS	OMIM:231550
HP:0000007	Autosomal recessive inheritance	8139	GAN	OMIM:256850
HP:0000007	Autosomal recessive inheritance	1439	CSF2RB	OMIM:614370
HP:0000007	Autosomal recessive inheritance	51075	TMX2	OMIM:618730
HP:0000007	Autosomal recessive inheritance	57647	DHX37	OMIM:618731
HP:0000007	Autosomal recessive inheritance	22948	CCT5	OMIM:256840
HP:0000007	Autosomal recessive inheritance	51763	INPP5K	OMIM:617404
HP:0000007	Autosomal recessive inheritance	10844	TUBGCP2	OMIM:618737
HP:0000007	Autosomal recessive inheritance	523	ATP6V1A	OMIM:617403
HP:0000007	Autosomal recessive inheritance	529	ATP6V1E1	OMIM:617402
HP:0000007	Autosomal recessive inheritance	255758	DYNLT2B	OMIM:617405
HP:0000007	Autosomal recessive inheritance	9381	OTOF	OMIM:601071
HP:0000007	Autosomal recessive inheritance	64699	TMPRSS3	OMIM:601072
HP:0000007	Autosomal recessive inheritance	352909	DNAAF3	OMIM:606763
HP:0000007	Autosomal recessive inheritance	7252	TSHB	OMIM:275100
HP:0000007	Autosomal recessive inheritance	3551	IKBKB	OMIM:615592
HP:0000007	Autosomal recessive inheritance	10617	STAMBP	OMIM:614261
HP:0000007	Autosomal recessive inheritance	57128	LYRM4	OMIM:615595
HP:0000007	Autosomal recessive inheritance	197322	ACSF3	OMIM:614265
HP:0000007	Autosomal recessive inheritance	3703	STT3A	OMIM:615596
HP:0000007	Autosomal recessive inheritance	7293	TNFRSF4	OMIM:615593
HP:0000007	Autosomal recessive inheritance	6873	TAF2	OMIM:615599
HP:0000007	Autosomal recessive inheritance	1000	CDH2	OMIM:619957
HP:0000007	Autosomal recessive inheritance	201595	STT3B	OMIM:615597
HP:0000007	Autosomal recessive inheritance	8710	SERPINB7	OMIM:615598
HP:0000007	Autosomal recessive inheritance	26873	OPLAH	OMIM:260005
HP:0000007	Autosomal recessive inheritance	55627	SMPD4	OMIM:618622
HP:0000007	Autosomal recessive inheritance	23417	MLYCD	OMIM:248360
HP:0000007	Autosomal recessive inheritance	5361	PLXNA1	OMIM:619955
HP:0000007	Autosomal recessive inheritance	64682	ANAPC1	OMIM:618625
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:214110
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:616716
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:202370
HP:0000007	Autosomal recessive inheritance	1131	CHRM3	OMIM:100100
HP:0000007	Autosomal recessive inheritance	64094	SMOC2	OMIM:125400
HP:0000007	Autosomal recessive inheritance	9380	GRHPR	OMIM:260000
HP:0000007	Autosomal recessive inheritance	6536	SLC6A9	OMIM:617301
HP:0000007	Autosomal recessive inheritance	1646	AKR1C2	OMIM:614279
HP:0000007	Autosomal recessive inheritance	1109	AKR1C4	OMIM:614279
HP:0000007	Autosomal recessive inheritance	92840	REEP6	OMIM:617304
HP:0000007	Autosomal recessive inheritance	65082	VPS33A	OMIM:617303
HP:0000007	Autosomal recessive inheritance	7941	PLA2G7	OMIM:614278
HP:0000007	Autosomal recessive inheritance	10730	YME1L1	OMIM:617302
HP:0000007	Autosomal recessive inheritance	8309	ACOX2	OMIM:617308
HP:0000007	Autosomal recessive inheritance	128486	FITM2	OMIM:618635
HP:0000007	Autosomal recessive inheritance	57156	TMEM63C	OMIM:619966
HP:0000007	Autosomal recessive inheritance	4286	MITF	OMIM:617306
HP:0000007	Autosomal recessive inheritance	9200	HACD1	OMIM:619967
HP:0000007	Autosomal recessive inheritance	7486	WRN	OMIM:277700
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:214100
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:234580
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:601539
HP:0000007	Autosomal recessive inheritance	55034	MOCOS	OMIM:603592
HP:0000007	Autosomal recessive inheritance	10559	SLC35A1	OMIM:603585
HP:0000007	Autosomal recessive inheritance	54	ACP5	OMIM:607944
HP:0000007	Autosomal recessive inheritance	535	ATP6V0A1	OMIM:619971
HP:0000007	Autosomal recessive inheritance	60561	RINT1	OMIM:618641
HP:0000007	Autosomal recessive inheritance	129685	TAF8	OMIM:619972
HP:0000007	Autosomal recessive inheritance	10584	COLEC10	OMIM:248340
HP:0000007	Autosomal recessive inheritance	8632	DNAH17	OMIM:618643
HP:0000007	Autosomal recessive inheritance	1298	COL9A2	OMIM:614284
HP:0000007	Autosomal recessive inheritance	10379	IRF9	OMIM:618648
HP:0000007	Autosomal recessive inheritance	23184	MESD	OMIM:618644
HP:0000007	Autosomal recessive inheritance	27151	CPAMD8	OMIM:617319
HP:0000007	Autosomal recessive inheritance	170825	GSX2	OMIM:618646
HP:0000007	Autosomal recessive inheritance	6445	SGCG	OMIM:253700
HP:0000007	Autosomal recessive inheritance	1475	CSTA	OMIM:607936
HP:0000007	Autosomal recessive inheritance	154288	KHDC3L	OMIM:614293
HP:0000007	Autosomal recessive inheritance	22872	SEC31A	OMIM:618651
HP:0000007	Autosomal recessive inheritance	283987	HID1	OMIM:619983
HP:0000007	Autosomal recessive inheritance	55214	P3H2	OMIM:614292
HP:0000007	Autosomal recessive inheritance	497661	C18orf32	OMIM:619985
HP:0000007	Autosomal recessive inheritance	3612	IMPA1	OMIM:617323
HP:0000007	Autosomal recessive inheritance	56992	KIF15	OMIM:619981
HP:0000007	Autosomal recessive inheritance	23581	CASP14	OMIM:617320
HP:0000007	Autosomal recessive inheritance	388962	BOLA3	OMIM:614299
HP:0000007	Autosomal recessive inheritance	55521	TRIM36	OMIM:206500
HP:0000007	Autosomal recessive inheritance	9731	CEP104	OMIM:619988
HP:0000007	Autosomal recessive inheritance	9731	CEP104	OMIM:616781
HP:0000007	Autosomal recessive inheritance	55623	THUMPD1	OMIM:619989
HP:0000007	Autosomal recessive inheritance	105371045	PERCC1	OMIM:618662
HP:0000007	Autosomal recessive inheritance	23432	GPR161	OMIM:155255
HP:0000007	Autosomal recessive inheritance	8643	PTCH2	OMIM:155255
HP:0000007	Autosomal recessive inheritance	1499	CTNNB1	OMIM:155255
HP:0000007	Autosomal recessive inheritance	255101	CFAP65	OMIM:618664
HP:0000007	Autosomal recessive inheritance	29081	METTL5	OMIM:618665
HP:0000007	Autosomal recessive inheritance	54914	FOCAD	OMIM:619991
HP:0000007	Autosomal recessive inheritance	5792	PTPRF	OMIM:616001
HP:0000007	Autosomal recessive inheritance	2936	GSR	OMIM:618660
HP:0000007	Autosomal recessive inheritance	55699	IARS2	OMIM:616007
HP:0000007	Autosomal recessive inheritance	79633	FAT4	OMIM:616006
HP:0000007	Autosomal recessive inheritance	79633	FAT4	OMIM:615546
HP:0000007	Autosomal recessive inheritance	84665	MYPN	OMIM:617336
HP:0000007	Autosomal recessive inheritance	64240	ABCG5	OMIM:618666
HP:0000007	Autosomal recessive inheritance	4191	MDH2	OMIM:617339
HP:0000007	Autosomal recessive inheritance	166785	MMAA	OMIM:251100
HP:0000007	Autosomal recessive inheritance	2248	FGF3	OMIM:610706
HP:0000007	Autosomal recessive inheritance	5551	PRF1	OMIM:603553
HP:0000007	Autosomal recessive inheritance	8676	STX11	OMIM:603552
HP:0000007	Autosomal recessive inheritance	79991	STN1	OMIM:617341
HP:0000007	Autosomal recessive inheritance	118491	CFAP70	OMIM:618670
HP:0000007	Autosomal recessive inheritance	10297	APC2	OMIM:618677
HP:0000007	Autosomal recessive inheritance	10297	APC2	OMIM:617169
HP:0000007	Autosomal recessive inheritance	57104	PNPLA2	OMIM:610717
HP:0000007	Autosomal recessive inheritance	147409	DSG4	OMIM:607903
HP:0000007	Autosomal recessive inheritance	6324	SCN1B	OMIM:617350
HP:0000007	Autosomal recessive inheritance	9922	IQSEC1	OMIM:618687
HP:0000007	Autosomal recessive inheritance	284098	PIGW	OMIM:616025
HP:0000007	Autosomal recessive inheritance	4193	MDM2	OMIM:618681
HP:0000007	Autosomal recessive inheritance	84833	ATP5MK	OMIM:618683
HP:0000007	Autosomal recessive inheritance	84522	JAGN1	OMIM:616022
HP:0000007	Autosomal recessive inheritance	79977	GRHL2	OMIM:616029
HP:0000007	Autosomal recessive inheritance	2591	GALNT3	OMIM:211900
HP:0000007	Autosomal recessive inheritance	5213	PFKM	OMIM:232800
HP:0000007	Autosomal recessive inheritance	51196	PLCE1	OMIM:610725
HP:0000007	Autosomal recessive inheritance	345643	MCIDAS	OMIM:618695
HP:0000007	Autosomal recessive inheritance	133686	NADK2	OMIM:616034
HP:0000007	Autosomal recessive inheritance	93587	TRMT10A	OMIM:616033
HP:0000007	Autosomal recessive inheritance	1337	COX6A1	OMIM:616039
HP:0000007	Autosomal recessive inheritance	115948	ODAD3	OMIM:616037
HP:0000007	Autosomal recessive inheritance	10456	HAX1	OMIM:610738
HP:0000007	Autosomal recessive inheritance	23111	SPART	OMIM:275900
HP:0000007	Autosomal recessive inheritance	8504	PEX3	OMIM:617370
HP:0000007	Autosomal recessive inheritance	8504	PEX3	OMIM:614882
HP:0000007	Autosomal recessive inheritance	53405	CLIC5	OMIM:616042
HP:0000007	Autosomal recessive inheritance	23345	SYNE1	OMIM:610743
HP:0000007	Autosomal recessive inheritance	23345	SYNE1	OMIM:618484
HP:0000007	Autosomal recessive inheritance	56521	DNAJC12	OMIM:617384
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:226960
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:210710
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:616651
HP:0000007	Autosomal recessive inheritance	1062	CENPE	OMIM:616051
HP:0000007	Autosomal recessive inheritance	8867	SYNJ1	OMIM:617389
HP:0000007	Autosomal recessive inheritance	8867	SYNJ1	OMIM:615530
HP:0000007	Autosomal recessive inheritance	10126	DNAL4	OMIM:616059
HP:0000007	Autosomal recessive inheritance	9622	KLK4	OMIM:204700
HP:0000007	Autosomal recessive inheritance	2067	ERCC1	OMIM:610758
HP:0000007	Autosomal recessive inheritance	10166	SLC25A15	OMIM:238970
HP:0000007	Autosomal recessive inheritance	83999	KREMEN1	OMIM:617392
HP:0000007	Autosomal recessive inheritance	3938	LCT	OMIM:223000
HP:0000007	Autosomal recessive inheritance	10940	POP1	OMIM:617396
HP:0000007	Autosomal recessive inheritance	22796	COG2	OMIM:617395
HP:0000007	Autosomal recessive inheritance	1956	EGFR	OMIM:616069
HP:0000007	Autosomal recessive inheritance	3394	IRF8	OMIM:226990
HP:0000007	Autosomal recessive inheritance	11274	USP18	OMIM:617397
HP:0000007	Autosomal recessive inheritance	1585	CYP11B2	OMIM:203400
HP:0000007	Autosomal recessive inheritance	1585	CYP11B2	OMIM:610600
HP:0000007	Autosomal recessive inheritance	22845	DOLK	OMIM:610768
HP:0000007	Autosomal recessive inheritance	4864	NPC1	OMIM:257220
HP:0000007	Autosomal recessive inheritance	80324	PUS1	OMIM:600462
HP:0000007	Autosomal recessive inheritance	112812	FDX2	OMIM:251900
HP:0000007	Autosomal recessive inheritance	22873	DZIP1	OMIM:619102
HP:0000007	Autosomal recessive inheritance	9451	EIF2AK3	OMIM:226980
HP:0000007	Autosomal recessive inheritance	5395	PMS2	OMIM:619101
HP:0000007	Autosomal recessive inheritance	5250	SLC25A3	OMIM:610773
HP:0000007	Autosomal recessive inheritance	5000	ORC4	OMIM:613800
HP:0000007	Autosomal recessive inheritance	130951	M1AP	OMIM:619108
HP:0000007	Autosomal recessive inheritance	2683	B4GALT1	OMIM:607091
HP:0000007	Autosomal recessive inheritance	5158	PDE6B	OMIM:613801
HP:0000007	Autosomal recessive inheritance	81620	CDT1	OMIM:613804
HP:0000007	Autosomal recessive inheritance	23594	ORC6	OMIM:613803
HP:0000007	Autosomal recessive inheritance	990	CDC6	OMIM:613805
HP:0000007	Autosomal recessive inheritance	55036	CCDC40	OMIM:613808
HP:0000007	Autosomal recessive inheritance	339829	CCDC39	OMIM:613807
HP:0000007	Autosomal recessive inheritance	11340	EXOSC8	OMIM:616081
HP:0000007	Autosomal recessive inheritance	1021	CDK6	OMIM:616080
HP:0000007	Autosomal recessive inheritance	29895	MYL11	OMIM:619110
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:619111
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:619845
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:612285
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:612284
HP:0000007	Autosomal recessive inheritance	55526	DHTKD1	OMIM:204750
HP:0000007	Autosomal recessive inheritance	79005	SCNM1	OMIM:620107
HP:0000007	Autosomal recessive inheritance	51091	SEPSECS	OMIM:613811
HP:0000007	Autosomal recessive inheritance	5145	PDE6A	OMIM:613810
HP:0000007	Autosomal recessive inheritance	50846	DHH	OMIM:607080
HP:0000007	Autosomal recessive inheritance	50846	DHH	OMIM:233420
HP:0000007	Autosomal recessive inheritance	84839	RAX2	OMIM:620102
HP:0000007	Autosomal recessive inheritance	8468	FKBP6	OMIM:620103
HP:0000007	Autosomal recessive inheritance	4796	TONSL	OMIM:271510
HP:0000007	Autosomal recessive inheritance	79809	TTC21B	OMIM:613819
HP:0000007	Autosomal recessive inheritance	79809	TTC21B	OMIM:613820
HP:0000007	Autosomal recessive inheritance	113189	CHST14	OMIM:601776
HP:0000007	Autosomal recessive inheritance	2916	GRM6	OMIM:257270
HP:0000007	Autosomal recessive inheritance	6573	SLC19A1	OMIM:601775
HP:0000007	Autosomal recessive inheritance	2571	GAD1	OMIM:619124
HP:0000007	Autosomal recessive inheritance	8915	BCL10	OMIM:616098
HP:0000007	Autosomal recessive inheritance	90522	YIF1B	OMIM:619125
HP:0000007	Autosomal recessive inheritance	54790	TET2	OMIM:619126
HP:0000007	Autosomal recessive inheritance	10651	MTX2	OMIM:619127
HP:0000007	Autosomal recessive inheritance	6566	SLC16A1	OMIM:616095
HP:0000007	Autosomal recessive inheritance	55755	CDK5RAP2	OMIM:604804
HP:0000007	Autosomal recessive inheritance	6472	SHMT2	OMIM:619121
HP:0000007	Autosomal recessive inheritance	90416	CCDC32	OMIM:619123
HP:0000007	Autosomal recessive inheritance	10161	LPAR6	OMIM:278150
HP:0000007	Autosomal recessive inheritance	284086	NEK8	OMIM:613824
HP:0000007	Autosomal recessive inheritance	284086	NEK8	OMIM:615415
HP:0000007	Autosomal recessive inheritance	28956	LAMTOR2	OMIM:610798
HP:0000007	Autosomal recessive inheritance	118924	FRA10AC1	OMIM:620113
HP:0000007	Autosomal recessive inheritance	23169	SLC35D1	OMIM:269250
HP:0000007	Autosomal recessive inheritance	22995	CEP152	OMIM:613823
HP:0000007	Autosomal recessive inheritance	22995	CEP152	OMIM:614852
HP:0000007	Autosomal recessive inheritance	57096	RPGRIP1	OMIM:613826
HP:0000007	Autosomal recessive inheritance	57096	RPGRIP1	OMIM:608194
HP:0000007	Autosomal recessive inheritance	57020	VPS35L	OMIM:619135
HP:0000007	Autosomal recessive inheritance	11014	KDELR2	OMIM:619131
HP:0000007	Autosomal recessive inheritance	57152	SLURP1	OMIM:248300
HP:0000007	Autosomal recessive inheritance	55835	CENPJ	OMIM:608393
HP:0000007	Autosomal recessive inheritance	55835	CENPJ	OMIM:613676
HP:0000007	Autosomal recessive inheritance	100	ADA	OMIM:102700
HP:0000007	Autosomal recessive inheritance	383	ARG1	OMIM:207800
HP:0000007	Autosomal recessive inheritance	9187	SLC24A1	OMIM:613830
HP:0000007	Autosomal recessive inheritance	6340	SCNN1G	OMIM:620126
HP:0000007	Autosomal recessive inheritance	6338	SCNN1B	OMIM:620125
HP:0000007	Autosomal recessive inheritance	1719	DHFR	OMIM:613839
HP:0000007	Autosomal recessive inheritance	224	ALDH3A2	OMIM:270200
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:619146
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:619145
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:617247
HP:0000007	Autosomal recessive inheritance	5626	PROP1	OMIM:262600
HP:0000007	Autosomal recessive inheritance	1586	CYP17A1	OMIM:202110
HP:0000007	Autosomal recessive inheritance	159686	CFAP58	OMIM:619144
HP:0000007	Autosomal recessive inheritance	375298	CERKL	OMIM:608380
HP:0000007	Autosomal recessive inheritance	7388	UQCRH	OMIM:620137
HP:0000007	Autosomal recessive inheritance	7389	UROD	OMIM:176100
HP:0000007	Autosomal recessive inheritance	3077	HFE	OMIM:176100
HP:0000007	Autosomal recessive inheritance	3077	HFE	OMIM:235200
HP:0000007	Autosomal recessive inheritance	90523	MLIP	OMIM:620138
HP:0000007	Autosomal recessive inheritance	4713	NDUFB7	OMIM:620135
HP:0000007	Autosomal recessive inheritance	54938	SARS2	OMIM:613845
HP:0000007	Autosomal recessive inheritance	871	SERPINH1	OMIM:613848
HP:0000007	Autosomal recessive inheritance	64858	DCLRE1B	OMIM:620133
HP:0000007	Autosomal recessive inheritance	26275	HIBCH	OMIM:250620
HP:0000007	Autosomal recessive inheritance	50640	PNPLA8	OMIM:251950
HP:0000007	Autosomal recessive inheritance	55172	DNAAF2	OMIM:612518
HP:0000007	Autosomal recessive inheritance	121340	SP7	OMIM:613849
HP:0000007	Autosomal recessive inheritance	84189	SLITRK6	OMIM:221200
HP:0000007	Autosomal recessive inheritance	126326	GIPC3	OMIM:601869
HP:0000007	Autosomal recessive inheritance	8838	CCN6	OMIM:208230
HP:0000007	Autosomal recessive inheritance	51181	DCXR	OMIM:260800
HP:0000007	Autosomal recessive inheritance	83700	JAM3	OMIM:613730
HP:0000007	Autosomal recessive inheritance	7109	TRAPPC10	OMIM:620027
HP:0000007	Autosomal recessive inheritance	55325	UFSP2	OMIM:620028
HP:0000007	Autosomal recessive inheritance	8854	ALDH1A2	OMIM:620025
HP:0000007	Autosomal recessive inheritance	1119	CHKA	OMIM:620023
HP:0000007	Autosomal recessive inheritance	8496	PPFIBP1	OMIM:620024
HP:0000007	Autosomal recessive inheritance	118987	PDZD8	OMIM:620021
HP:0000007	Autosomal recessive inheritance	1299	COL9A3	OMIM:620022
HP:0000007	Autosomal recessive inheritance	501	ALDH7A1	OMIM:266100
HP:0000007	Autosomal recessive inheritance	3073	HEXA	OMIM:272800
HP:0000007	Autosomal recessive inheritance	6840	SVIL	OMIM:619040
HP:0000007	Autosomal recessive inheritance	183	AGT	OMIM:267430
HP:0000007	Autosomal recessive inheritance	5972	REN	OMIM:267430
HP:0000007	Autosomal recessive inheritance	185	AGTR1	OMIM:267430
HP:0000007	Autosomal recessive inheritance	1636	ACE	OMIM:267430
HP:0000007	Autosomal recessive inheritance	6341	SCO1	OMIM:619048
HP:0000007	Autosomal recessive inheritance	162	AP1B1	OMIM:242150
HP:0000007	Autosomal recessive inheritance	201134	CEP112	OMIM:619044
HP:0000007	Autosomal recessive inheritance	1352	COX10	OMIM:619046
HP:0000007	Autosomal recessive inheritance	57674	RNF213	OMIM:607151
HP:0000007	Autosomal recessive inheritance	5689	PSMB1	OMIM:620038
HP:0000007	Autosomal recessive inheritance	23431	AP4E1	OMIM:613744
HP:0000007	Autosomal recessive inheritance	2160	F11	OMIM:612416
HP:0000007	Autosomal recessive inheritance	8382	NME5	OMIM:620032
HP:0000007	Autosomal recessive inheritance	63908	NAPB	OMIM:620033
HP:0000007	Autosomal recessive inheritance	1340	COX6B1	OMIM:619051
HP:0000007	Autosomal recessive inheritance	51204	TACO1	OMIM:619052
HP:0000007	Autosomal recessive inheritance	84987	COX14	OMIM:619053
HP:0000007	Autosomal recessive inheritance	28958	COA3	OMIM:619058
HP:0000007	Autosomal recessive inheritance	10216	PRG4	OMIM:208250
HP:0000007	Autosomal recessive inheritance	1351	COX8A	OMIM:619059
HP:0000007	Autosomal recessive inheritance	116228	COX20	OMIM:619054
HP:0000007	Autosomal recessive inheritance	100131801	PET100	OMIM:619055
HP:0000007	Autosomal recessive inheritance	55037	PTCD3	OMIM:619057
HP:0000007	Autosomal recessive inheritance	1136	CHRNA3	OMIM:191800
HP:0000007	Autosomal recessive inheritance	191	AHCY	OMIM:613752
HP:0000007	Autosomal recessive inheritance	340024	SLC6A19	OMIM:234500
HP:0000007	Autosomal recessive inheritance	3818	KLKB1	OMIM:612423
HP:0000007	Autosomal recessive inheritance	3911	LAMA5	OMIM:620049
HP:0000007	Autosomal recessive inheritance	3911	LAMA5	OMIM:620076
HP:0000007	Autosomal recessive inheritance	10015	PDCD6IP	OMIM:620047
HP:0000007	Autosomal recessive inheritance	55107	ANO1	OMIM:620045
HP:0000007	Autosomal recessive inheritance	8772	FADD	OMIM:613759
HP:0000007	Autosomal recessive inheritance	1854	DUT	OMIM:620044
HP:0000007	Autosomal recessive inheritance	79087	ALG12	OMIM:607143
HP:0000007	Autosomal recessive inheritance	84334	COA8	OMIM:619061
HP:0000007	Autosomal recessive inheritance	1339	COX6A2	OMIM:619062
HP:0000007	Autosomal recessive inheritance	100303755	PET117	OMIM:619063
HP:0000007	Autosomal recessive inheritance	9377	COX5A	OMIM:619064
HP:0000007	Autosomal recessive inheritance	1327	COX4I1	OMIM:619060
HP:0000007	Autosomal recessive inheritance	4697	NDUFA4	OMIM:619065
HP:0000007	Autosomal recessive inheritance	1258	CNGB1	OMIM:613767
HP:0000007	Autosomal recessive inheritance	55157	DARS2	OMIM:611105
HP:0000007	Autosomal recessive inheritance	5995	RGR	OMIM:613769
HP:0000007	Autosomal recessive inheritance	144165	PRICKLE1	OMIM:612437
HP:0000007	Autosomal recessive inheritance	9333	TGM5	OMIM:609796
HP:0000007	Autosomal recessive inheritance	23265	EXOC7	OMIM:619072
HP:0000007	Autosomal recessive inheritance	1802	DPH2	OMIM:620062
HP:0000007	Autosomal recessive inheritance	2615	LRRC32	OMIM:619074
HP:0000007	Autosomal recessive inheritance	3767	KCNJ11	OMIM:601820
HP:0000007	Autosomal recessive inheritance	5091	PC	OMIM:266150
HP:0000007	Autosomal recessive inheritance	1267	CNP	OMIM:619071
HP:0000007	Autosomal recessive inheritance	149371	EXOC8	OMIM:619076
HP:0000007	Autosomal recessive inheritance	4035	LRP1	OMIM:604093
HP:0000007	Autosomal recessive inheritance	64446	DNAI2	OMIM:612444
HP:0000007	Autosomal recessive inheritance	285175	UNC80	OMIM:616801
HP:0000007	Autosomal recessive inheritance	729	C6	OMIM:612446
HP:0000007	Autosomal recessive inheritance	4595	MUTYH	OMIM:608456
HP:0000007	Autosomal recessive inheritance	718	C3	OMIM:613779
HP:0000007	Autosomal recessive inheritance	171019	ADAMTS19	OMIM:620067
HP:0000007	Autosomal recessive inheritance	83475	DOHH	OMIM:620066
HP:0000007	Autosomal recessive inheritance	84992	PIGY	OMIM:616809
HP:0000007	Autosomal recessive inheritance	55027	HEATR3	OMIM:620072
HP:0000007	Autosomal recessive inheritance	5700	PSMC1	OMIM:620071
HP:0000007	Autosomal recessive inheritance	6558	SLC12A2	OMIM:619080
HP:0000007	Autosomal recessive inheritance	79816	TLE6	OMIM:616814
HP:0000007	Autosomal recessive inheritance	11149	BVES	OMIM:616812
HP:0000007	Autosomal recessive inheritance	732	C8B	OMIM:613789
HP:0000007	Autosomal recessive inheritance	28976	ACAD9	OMIM:611126
HP:0000007	Autosomal recessive inheritance	25828	TXN2	OMIM:616811
HP:0000007	Autosomal recessive inheritance	84919	PPP1R15B	OMIM:616817
HP:0000007	Autosomal recessive inheritance	51244	CCDC174	OMIM:616816
HP:0000007	Autosomal recessive inheritance	54862	CC2D1A	OMIM:608443
HP:0000007	Autosomal recessive inheritance	55691	FRMD4A	OMIM:616819
HP:0000007	Autosomal recessive inheritance	10430	TMEM147	OMIM:620075
HP:0000007	Autosomal recessive inheritance	146754	DNAH2	OMIM:619094
HP:0000007	Autosomal recessive inheritance	91057	CCDC34	OMIM:620084
HP:0000007	Autosomal recessive inheritance	1769	DNAH8	OMIM:619095
HP:0000007	Autosomal recessive inheritance	4436	MSH2	OMIM:619096
HP:0000007	Autosomal recessive inheritance	2956	MSH6	OMIM:619097
HP:0000007	Autosomal recessive inheritance	4677	NARS1	OMIM:619091
HP:0000007	Autosomal recessive inheritance	9080	CLDN9	OMIM:619093
HP:0000007	Autosomal recessive inheritance	731	C8A	OMIM:613790
HP:0000007	Autosomal recessive inheritance	9147	NEMF	OMIM:619099
HP:0000007	Autosomal recessive inheritance	10747	MASP2	OMIM:613791
HP:0000007	Autosomal recessive inheritance	6121	RPE65	OMIM:613794
HP:0000007	Autosomal recessive inheritance	6121	RPE65	OMIM:204100
HP:0000007	Autosomal recessive inheritance	10002	NR2E3	OMIM:611131
HP:0000007	Autosomal recessive inheritance	10002	NR2E3	OMIM:268100
HP:0000007	Autosomal recessive inheritance	1604	CD55	OMIM:613793
HP:0000007	Autosomal recessive inheritance	1604	CD55	OMIM:226300
HP:0000007	Autosomal recessive inheritance	6772	STAT1	OMIM:613796
HP:0000007	Autosomal recessive inheritance	147007	TMEM199	OMIM:616829
HP:0000007	Autosomal recessive inheritance	84317	CCDC115	OMIM:616828
HP:0000007	Autosomal recessive inheritance	53904	MYO3A	OMIM:607101
HP:0000007	Autosomal recessive inheritance	55679	LIMS2	OMIM:616827
HP:0000007	Autosomal recessive inheritance	3954	LETM1	OMIM:620089
HP:0000007	Autosomal recessive inheritance	51251	NT5C3A	OMIM:266120
HP:0000007	Autosomal recessive inheritance	2581	GALC	OMIM:245200
HP:0000007	Autosomal recessive inheritance	56683	CFAP298	OMIM:615500
HP:0000007	Autosomal recessive inheritance	10243	GPHN	OMIM:615501
HP:0000007	Autosomal recessive inheritance	10243	GPHN	OMIM:149400
HP:0000007	Autosomal recessive inheritance	80207	OPA3	OMIM:258501
HP:0000007	Autosomal recessive inheritance	85478	CCDC65	OMIM:615504
HP:0000007	Autosomal recessive inheritance	6674	SPAG1	OMIM:615505
HP:0000007	Autosomal recessive inheritance	6307	MSMO1	OMIM:616834
HP:0000007	Autosomal recessive inheritance	55112	DYNC2I1	OMIM:615503
HP:0000007	Autosomal recessive inheritance	1828	DSG1	OMIM:615508
HP:0000007	Autosomal recessive inheritance	81034	SLC25A32	OMIM:616839
HP:0000007	Autosomal recessive inheritance	4359	MPZ	OMIM:145900
HP:0000007	Autosomal recessive inheritance	5376	PMP22	OMIM:145900
HP:0000007	Autosomal recessive inheritance	1959	EGR2	OMIM:145900
HP:0000007	Autosomal recessive inheritance	1959	EGR2	OMIM:605253
HP:0000007	Autosomal recessive inheritance	57716	PRX	OMIM:145900
HP:0000007	Autosomal recessive inheritance	57716	PRX	OMIM:614895
HP:0000007	Autosomal recessive inheritance	8787	RGS9	OMIM:608415
HP:0000007	Autosomal recessive inheritance	270	AMPD1	OMIM:615511
HP:0000007	Autosomal recessive inheritance	9780	PIEZO1	OMIM:616843
HP:0000007	Autosomal recessive inheritance	4907	NT5E	OMIM:211800
HP:0000007	Autosomal recessive inheritance	7167	TPI1	OMIM:615512
HP:0000007	Autosomal recessive inheritance	29926	GMPPA	OMIM:615510
HP:0000007	Autosomal recessive inheritance	54832	VPS13C	OMIM:616840
HP:0000007	Autosomal recessive inheritance	8924	HERC2	OMIM:615516
HP:0000007	Autosomal recessive inheritance	1417	CRYBB3	OMIM:609741
HP:0000007	Autosomal recessive inheritance	10	NAT2	OMIM:243400
HP:0000007	Autosomal recessive inheritance	5443	POMC	OMIM:609734
HP:0000007	Autosomal recessive inheritance	5443	POMC	OMIM:601665
HP:0000007	Autosomal recessive inheritance	948	CD36	OMIM:608404
HP:0000007	Autosomal recessive inheritance	3313	HSPA9	OMIM:616854
HP:0000007	Autosomal recessive inheritance	23094	SIPA1L3	OMIM:616851
HP:0000007	Autosomal recessive inheritance	10758	TRAF3IP2	OMIM:615527
HP:0000007	Autosomal recessive inheritance	5915	RARB	OMIM:615524
HP:0000007	Autosomal recessive inheritance	9829	DNAJC6	OMIM:615528
HP:0000007	Autosomal recessive inheritance	51218	GLRX5	OMIM:616859
HP:0000007	Autosomal recessive inheritance	51218	GLRX5	OMIM:616860
HP:0000007	Autosomal recessive inheritance	10265	IRX5	OMIM:611174
HP:0000007	Autosomal recessive inheritance	11253	MAN1B1	OMIM:614202
HP:0000007	Autosomal recessive inheritance	10841	FTCD	OMIM:229100
HP:0000007	Autosomal recessive inheritance	55806	HR	OMIM:209500
HP:0000007	Autosomal recessive inheritance	55806	HR	OMIM:203655
HP:0000007	Autosomal recessive inheritance	51206	GP6	OMIM:614201
HP:0000007	Autosomal recessive inheritance	27315	PGAP2	OMIM:614207
HP:0000007	Autosomal recessive inheritance	6550	SLC9A3	OMIM:616868
HP:0000007	Autosomal recessive inheritance	51008	ASCC1	OMIM:616867
HP:0000007	Autosomal recessive inheritance	26525	IL36RN	OMIM:614204
HP:0000007	Autosomal recessive inheritance	83987	CCDC8	OMIM:614205
HP:0000007	Autosomal recessive inheritance	29940	DSE	OMIM:615539
HP:0000007	Autosomal recessive inheritance	27077	B9D1	OMIM:614209
HP:0000007	Autosomal recessive inheritance	27077	B9D1	OMIM:617120
HP:0000007	Autosomal recessive inheritance	4594	MMUT	OMIM:251000
HP:0000007	Autosomal recessive inheritance	23400	ATP13A2	OMIM:606693
HP:0000007	Autosomal recessive inheritance	23400	ATP13A2	OMIM:617225
HP:0000007	Autosomal recessive inheritance	163183	SYNE4	OMIM:615540
HP:0000007	Autosomal recessive inheritance	84342	COG8	OMIM:611182
HP:0000007	Autosomal recessive inheritance	80185	TTI2	OMIM:615541
HP:0000007	Autosomal recessive inheritance	3293	HSD17B3	OMIM:264300
HP:0000007	Autosomal recessive inheritance	7289	TULP3	OMIM:619902
HP:0000007	Autosomal recessive inheritance	23065	EMC1	OMIM:616875
HP:0000007	Autosomal recessive inheritance	128989	TANGO2	OMIM:616878
HP:0000007	Autosomal recessive inheritance	57572	DOCK6	OMIM:614219
HP:0000007	Autosomal recessive inheritance	7138	TNNT1	OMIM:605355
HP:0000007	Autosomal recessive inheritance	7074	TIAM1	OMIM:619908
HP:0000007	Autosomal recessive inheritance	59336	PRDM13	OMIM:619909
HP:0000007	Autosomal recessive inheritance	59336	PRDM13	OMIM:619761
HP:0000007	Autosomal recessive inheritance	242	ALOX12B	OMIM:242100
HP:0000007	Autosomal recessive inheritance	59344	ALOXE3	OMIM:242100
HP:0000007	Autosomal recessive inheritance	59344	ALOXE3	OMIM:606545
HP:0000007	Autosomal recessive inheritance	51501	HIKESHI	OMIM:616881
HP:0000007	Autosomal recessive inheritance	3490	IGFBP7	OMIM:614224
HP:0000007	Autosomal recessive inheritance	5618	PRLR	OMIM:615555
HP:0000007	Autosomal recessive inheritance	81562	LMAN2L	OMIM:616887
HP:0000007	Autosomal recessive inheritance	22931	RAB18	OMIM:614222
HP:0000007	Autosomal recessive inheritance	23443	SLC35A3	OMIM:615553
HP:0000007	Autosomal recessive inheritance	5580	PRKCD	OMIM:615559
HP:0000007	Autosomal recessive inheritance	255928	SYT14	OMIM:614229
HP:0000007	Autosomal recessive inheritance	338	APOB	OMIM:615558
HP:0000007	Autosomal recessive inheritance	23209	MLC1	OMIM:604004
HP:0000007	Autosomal recessive inheritance	51124	IER3IP1	OMIM:614231
HP:0000007	Autosomal recessive inheritance	23165	NUP205	OMIM:616893
HP:0000007	Autosomal recessive inheritance	5075	PAX1	OMIM:615560
HP:0000007	Autosomal recessive inheritance	9688	NUP93	OMIM:616892
HP:0000007	Autosomal recessive inheritance	629	CFB	OMIM:615561
HP:0000007	Autosomal recessive inheritance	5788	PTPRC	OMIM:619924
HP:0000007	Autosomal recessive inheritance	202018	TAPT1	OMIM:616897
HP:0000007	Autosomal recessive inheritance	4976	OPA1	OMIM:616896
HP:0000007	Autosomal recessive inheritance	4976	OPA1	OMIM:210000
HP:0000007	Autosomal recessive inheritance	4751	NEK2	OMIM:615565
HP:0000007	Autosomal recessive inheritance	2741	GLRA1	OMIM:149400
HP:0000007	Autosomal recessive inheritance	55164	SHQ1	OMIM:619921
HP:0000007	Autosomal recessive inheritance	55164	SHQ1	OMIM:619922
HP:0000007	Autosomal recessive inheritance	27232	GNMT	OMIM:606664
HP:0000007	Autosomal recessive inheritance	6337	SCNN1A	OMIM:264350
HP:0000007	Autosomal recessive inheritance	79934	COQ8B	OMIM:615573
HP:0000007	Autosomal recessive inheritance	440	ASNS	OMIM:615574
HP:0000007	Autosomal recessive inheritance	5538	PPT1	OMIM:256730
HP:0000007	Autosomal recessive inheritance	3454	IFNAR1	OMIM:619935
HP:0000007	Autosomal recessive inheritance	1203	CLN5	OMIM:256731
HP:0000007	Autosomal recessive inheritance	119559	SFXN4	OMIM:615578
HP:0000007	Autosomal recessive inheritance	738	VPS51	OMIM:618606
HP:0000007	Autosomal recessive inheritance	4438	MSH4	OMIM:619938
HP:0000007	Autosomal recessive inheritance	4438	MSH4	OMIM:108420
HP:0000007	Autosomal recessive inheritance	2890	GRIA1	OMIM:619931
HP:0000007	Autosomal recessive inheritance	9439	MED23	OMIM:614249
HP:0000007	Autosomal recessive inheritance	4292	MLH1	OMIM:276300
HP:0000007	Autosomal recessive inheritance	101929726	MYMX	OMIM:619941
HP:0000007	Autosomal recessive inheritance	3034	HAL	OMIM:235800
HP:0000007	Autosomal recessive inheritance	4254	KITLG	OMIM:619947
HP:0000007	Autosomal recessive inheritance	158401	SHOC1	OMIM:619949
HP:0000007	Autosomal recessive inheritance	57670	KIAA1549	OMIM:618613
HP:0000007	Autosomal recessive inheritance	3651	PDX1	OMIM:260370
HP:0000007	Autosomal recessive inheritance	7428	VHL	OMIM:263400
HP:0000007	Autosomal recessive inheritance	26235	FBXL4	OMIM:615471
HP:0000007	Autosomal recessive inheritance	125150	ZSWIM7	OMIM:619831
HP:0000007	Autosomal recessive inheritance	125150	ZSWIM7	OMIM:619834
HP:0000007	Autosomal recessive inheritance	23334	SZT2	OMIM:615476
HP:0000007	Autosomal recessive inheritance	9254	CACNA2D2	OMIM:618501
HP:0000007	Autosomal recessive inheritance	4897	NRCAM	OMIM:619833
HP:0000007	Autosomal recessive inheritance	91801	ALKBH8	OMIM:618504
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:607831
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:214400
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:608340
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:607706
HP:0000007	Autosomal recessive inheritance	56704	JPH1	OMIM:607831
HP:0000007	Autosomal recessive inheritance	197131	UBR1	OMIM:243800
HP:0000007	Autosomal recessive inheritance	89765	RSPH1	OMIM:615481
HP:0000007	Autosomal recessive inheritance	161582	DNAAF4	OMIM:615482
HP:0000007	Autosomal recessive inheritance	4210	MEFV	OMIM:249100
HP:0000007	Autosomal recessive inheritance	8566	PDXK	OMIM:618511
HP:0000007	Autosomal recessive inheritance	1841	DTYMK	OMIM:619847
HP:0000007	Autosomal recessive inheritance	644	BLVRA	OMIM:614156
HP:0000007	Autosomal recessive inheritance	84936	ZFYVE19	OMIM:619849
HP:0000007	Autosomal recessive inheritance	318	NUDT2	OMIM:619844
HP:0000007	Autosomal recessive inheritance	85015	USP45	OMIM:618513
HP:0000007	Autosomal recessive inheritance	56259	CTNNBL1	OMIM:619846
HP:0000007	Autosomal recessive inheritance	2188	FANCF	OMIM:603467
HP:0000007	Autosomal recessive inheritance	4646	MYO6	OMIM:607821
HP:0000007	Autosomal recessive inheritance	54345	SOX18	OMIM:607823
HP:0000007	Autosomal recessive inheritance	288	ANK3	OMIM:615493
HP:0000007	Autosomal recessive inheritance	23321	TRIM2	OMIM:615490
HP:0000007	Autosomal recessive inheritance	7345	UCHL1	OMIM:615491
HP:0000007	Autosomal recessive inheritance	2660	MSTN	OMIM:614160
HP:0000007	Autosomal recessive inheritance	5105	PCK1	OMIM:261680
HP:0000007	Autosomal recessive inheritance	2876	GPX1	OMIM:614164
HP:0000007	Autosomal recessive inheritance	283652	SLC24A5	OMIM:113750
HP:0000007	Autosomal recessive inheritance	1777	DNASE2	OMIM:619858
HP:0000007	Autosomal recessive inheritance	10606	PAICS	OMIM:619859
HP:0000007	Autosomal recessive inheritance	64359	NXN	OMIM:618529
HP:0000007	Autosomal recessive inheritance	3572	IL6ST	OMIM:618523
HP:0000007	Autosomal recessive inheritance	3572	IL6ST	OMIM:619751
HP:0000007	Autosomal recessive inheritance	79140	CCDC28B	OMIM:209900
HP:0000007	Autosomal recessive inheritance	582	BBS1	OMIM:209900
HP:0000007	Autosomal recessive inheritance	10484	SEC23A	OMIM:607812
HP:0000007	Autosomal recessive inheritance	79600	TCTN1	OMIM:614173
HP:0000007	Autosomal recessive inheritance	10935	PRDX3	OMIM:619862
HP:0000007	Autosomal recessive inheritance	11107	PRDM5	OMIM:614170
HP:0000007	Autosomal recessive inheritance	26258	BLOC1S6	OMIM:614171
HP:0000007	Autosomal recessive inheritance	1594	CYP27B1	OMIM:264700
HP:0000007	Autosomal recessive inheritance	5224	PGAM2	OMIM:261670
HP:0000007	Autosomal recessive inheritance	80776	B9D2	OMIM:614175
HP:0000007	Autosomal recessive inheritance	8550	MAPKAPK5	OMIM:619869
HP:0000007	Autosomal recessive inheritance	168507	PKD1L1	OMIM:617205
HP:0000007	Autosomal recessive inheritance	1201	CLN3	OMIM:204200
HP:0000007	Autosomal recessive inheritance	10125	RASGRP1	OMIM:618534
HP:0000007	Autosomal recessive inheritance	1474	CST6	OMIM:618535
HP:0000007	Autosomal recessive inheritance	126410	CYP4F22	OMIM:604777
HP:0000007	Autosomal recessive inheritance	4117	MAK	OMIM:614181
HP:0000007	Autosomal recessive inheritance	8482	SEMA7A	OMIM:619874
HP:0000007	Autosomal recessive inheritance	23729	SHPK	OMIM:617213
HP:0000007	Autosomal recessive inheritance	3590	IL11RA	OMIM:614188
HP:0000007	Autosomal recessive inheritance	3769	KCNJ13	OMIM:614186
HP:0000007	Autosomal recessive inheritance	8111	GPR68	OMIM:617217
HP:0000007	Autosomal recessive inheritance	10068	IL18BP	OMIM:618549
HP:0000007	Autosomal recessive inheritance	4261	CIITA	OMIM:209920
HP:0000007	Autosomal recessive inheritance	5994	RFXAP	OMIM:209920
HP:0000007	Autosomal recessive inheritance	5993	RFX5	OMIM:209920
HP:0000007	Autosomal recessive inheritance	8625	RFXANK	OMIM:209920
HP:0000007	Autosomal recessive inheritance	89869	PLCZ1	OMIM:617214
HP:0000007	Autosomal recessive inheritance	51692	CPSF3	OMIM:619876
HP:0000007	Autosomal recessive inheritance	6897	TARS1	OMIM:618546
HP:0000007	Autosomal recessive inheritance	116115	ZNF526	OMIM:619877
HP:0000007	Autosomal recessive inheritance	54456	MOV10L1	OMIM:619878
HP:0000007	Autosomal recessive inheritance	79770	TXNDC15	OMIM:619879
HP:0000007	Autosomal recessive inheritance	9091	PIGQ	OMIM:618548
HP:0000007	Autosomal recessive inheritance	6329	SCN4A	OMIM:614198
HP:0000007	Autosomal recessive inheritance	27068	PPA2	OMIM:617223
HP:0000007	Autosomal recessive inheritance	27068	PPA2	OMIM:617222
HP:0000007	Autosomal recessive inheritance	5800	PTPRO	OMIM:614196
HP:0000007	Autosomal recessive inheritance	10991	SLC38A3	OMIM:619881
HP:0000007	Autosomal recessive inheritance	4285	MIPEP	OMIM:617228
HP:0000007	Autosomal recessive inheritance	641	BLM	OMIM:210900
HP:0000007	Autosomal recessive inheritance	2674	GFRA1	OMIM:619887
HP:0000007	Autosomal recessive inheritance	23007	PLCH1	OMIM:619895
HP:0000007	Autosomal recessive inheritance	442721	LMOD2	OMIM:619897
HP:0000007	Autosomal recessive inheritance	353238	PADI6	OMIM:617234
HP:0000007	Autosomal recessive inheritance	56983	POGLUT1	OMIM:617232
HP:0000007	Autosomal recessive inheritance	6572	SLC18A3	OMIM:617239
HP:0000007	Autosomal recessive inheritance	84131	CEP78	OMIM:617236
HP:0000007	Autosomal recessive inheritance	29960	MRM2	OMIM:618567
HP:0000007	Autosomal recessive inheritance	374969	SVBP	OMIM:618569
HP:0000007	Autosomal recessive inheritance	2184	FAH	OMIM:276700
HP:0000007	Autosomal recessive inheritance	845	CASQ2	OMIM:611938
HP:0000007	Autosomal recessive inheritance	6476	SI	OMIM:222900
HP:0000007	Autosomal recessive inheritance	56160	NSMCE3	OMIM:617241
HP:0000007	Autosomal recessive inheritance	26173	INTS1	OMIM:618571
HP:0000007	Autosomal recessive inheritance	55656	INTS8	OMIM:618572
HP:0000007	Autosomal recessive inheritance	10459	MAD2L2	OMIM:617243
HP:0000007	Autosomal recessive inheritance	7201	TRHR	OMIM:618573
HP:0000007	Autosomal recessive inheritance	27429	HTRA2	OMIM:617248
HP:0000007	Autosomal recessive inheritance	5081	PAX7	OMIM:618578
HP:0000007	Autosomal recessive inheritance	3242	HPD	OMIM:276710
HP:0000007	Autosomal recessive inheritance	165918	RNF168	OMIM:611943
HP:0000007	Autosomal recessive inheritance	343035	RD3	OMIM:610612
HP:0000007	Autosomal recessive inheritance	410	ARSA	OMIM:250100
HP:0000007	Autosomal recessive inheritance	3321	IGSF3	OMIM:149700
HP:0000007	Autosomal recessive inheritance	9361	LONP1	OMIM:600373
HP:0000007	Autosomal recessive inheritance	9488	PIGB	OMIM:618580
HP:0000007	Autosomal recessive inheritance	2243	FGA	OMIM:202400
HP:0000007	Autosomal recessive inheritance	2244	FGB	OMIM:202400
HP:0000007	Autosomal recessive inheritance	2266	FGG	OMIM:202400
HP:0000007	Autosomal recessive inheritance	286053	NSMCE2	OMIM:617253
HP:0000007	Autosomal recessive inheritance	7062	TCHH	OMIM:617252
HP:0000007	Autosomal recessive inheritance	7053	TGM3	OMIM:617251
HP:0000007	Autosomal recessive inheritance	160418	TMTC3	OMIM:617255
HP:0000007	Autosomal recessive inheritance	79912	PYROXD1	OMIM:617258
HP:0000007	Autosomal recessive inheritance	4967	OGDH	OMIM:203740
HP:0000007	Autosomal recessive inheritance	5309	PITX3	OMIM:610623
HP:0000007	Autosomal recessive inheritance	2161	F12	OMIM:234000
HP:0000007	Autosomal recessive inheritance	128869	PIGU	OMIM:618590
HP:0000007	Autosomal recessive inheritance	10677	AVIL	OMIM:618594
HP:0000007	Autosomal recessive inheritance	5053	PAH	OMIM:261600
HP:0000007	Autosomal recessive inheritance	427	ASAH1	OMIM:159950
HP:0000007	Autosomal recessive inheritance	427	ASAH1	OMIM:228000
HP:0000007	Autosomal recessive inheritance	23005	MAPKBP1	OMIM:617271
HP:0000007	Autosomal recessive inheritance	55250	ELP2	OMIM:617270
HP:0000007	Autosomal recessive inheritance	6777	STAT5B	OMIM:245590
HP:0000007	Autosomal recessive inheritance	4998	ORC1	OMIM:224690
HP:0000007	Autosomal recessive inheritance	1621	DBH	OMIM:223360
HP:0000007	Autosomal recessive inheritance	8120	AP3B2	OMIM:617276
HP:0000007	Autosomal recessive inheritance	284654	RSPO1	OMIM:610644
HP:0000007	Autosomal recessive inheritance	549	AUH	OMIM:250950
HP:0000007	Autosomal recessive inheritance	1009	CDH11	OMIM:211380
HP:0000007	Autosomal recessive inheritance	6821	SUOX	OMIM:272300
HP:0000007	Autosomal recessive inheritance	51102	MECR	OMIM:617282
HP:0000007	Autosomal recessive inheritance	6557	SLC12A1	OMIM:601678
HP:0000007	Autosomal recessive inheritance	23258	DENND5A	OMIM:617281
HP:0000007	Autosomal recessive inheritance	2009	EML1	OMIM:600348
HP:0000007	Autosomal recessive inheritance	55630	SLC39A4	OMIM:201100
HP:0000007	Autosomal recessive inheritance	38	ACAT1	OMIM:203750
HP:0000007	Autosomal recessive inheritance	4548	MTR	OMIM:250940
HP:0000007	Autosomal recessive inheritance	4548	MTR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	154	ADRB2	OMIM:601665
HP:0000007	Autosomal recessive inheritance	155	ADRB3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	7352	UCP3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	8431	NR0B2	OMIM:601665
HP:0000007	Autosomal recessive inheritance	9607	CARTPT	OMIM:601665
HP:0000007	Autosomal recessive inheritance	51738	GHRL	OMIM:601665
HP:0000007	Autosomal recessive inheritance	5468	PPARG	OMIM:601665
HP:0000007	Autosomal recessive inheritance	9672	SDC3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	181	AGRP	OMIM:601665
HP:0000007	Autosomal recessive inheritance	11212	PLPBP	OMIM:617290
HP:0000007	Autosomal recessive inheritance	93650	ACP4	OMIM:617297
HP:0000007	Autosomal recessive inheritance	1285	COL4A3	OMIM:203780
HP:0000007	Autosomal recessive inheritance	1286	COL4A4	OMIM:203780
HP:0000007	Autosomal recessive inheritance	405753	DUOXA2	OMIM:274900
HP:0000007	Autosomal recessive inheritance	136647	MPLKIP	OMIM:234050
HP:0000007	Autosomal recessive inheritance	11322	TMC6	OMIM:226400
HP:0000007	Autosomal recessive inheritance	4716	NDUFB10	OMIM:619003
HP:0000007	Autosomal recessive inheritance	8567	MADD	OMIM:619004
HP:0000007	Autosomal recessive inheritance	8567	MADD	OMIM:619005
HP:0000007	Autosomal recessive inheritance	5106	PCK2	OMIM:261650
HP:0000007	Autosomal recessive inheritance	3419	IDH3A	OMIM:619007
HP:0000007	Autosomal recessive inheritance	343637	RSPO4	OMIM:206800
HP:0000007	Autosomal recessive inheritance	54766	BTG4	OMIM:619009
HP:0000007	Autosomal recessive inheritance	7284	TUFM	OMIM:610678
HP:0000007	Autosomal recessive inheritance	26278	SACS	OMIM:270550
HP:0000007	Autosomal recessive inheritance	5805	PTS	OMIM:261640
HP:0000007	Autosomal recessive inheritance	51168	MYO15A	OMIM:600316
HP:0000007	Autosomal recessive inheritance	63899	NSUN3	OMIM:619012
HP:0000007	Autosomal recessive inheritance	2193	FARSA	OMIM:619013
HP:0000007	Autosomal recessive inheritance	10491	CRTAP	OMIM:610682
HP:0000007	Autosomal recessive inheritance	203190	LGI3	OMIM:620007
HP:0000007	Autosomal recessive inheritance	5557	PRIM1	OMIM:620005
HP:0000007	Autosomal recessive inheritance	1073	CFL2	OMIM:610687
HP:0000007	Autosomal recessive inheritance	84081	NSRP1	OMIM:620001
HP:0000007	Autosomal recessive inheritance	253827	MSRB3	OMIM:613718
HP:0000007	Autosomal recessive inheritance	219844	HYLS1	OMIM:236680
HP:0000007	Autosomal recessive inheritance	51082	POLR1D	OMIM:613717
HP:0000007	Autosomal recessive inheritance	4644	MYO5A	OMIM:214450
HP:0000007	Autosomal recessive inheritance	64432	MRPS25	OMIM:619025
HP:0000007	Autosomal recessive inheritance	84842	HPDL	OMIM:619026
HP:0000007	Autosomal recessive inheritance	84842	HPDL	OMIM:619027
HP:0000007	Autosomal recessive inheritance	5860	QDPR	OMIM:261630
HP:0000007	Autosomal recessive inheritance	84274	COQ5	OMIM:619028
HP:0000007	Autosomal recessive inheritance	25793	FBXO7	OMIM:260300
HP:0000007	Autosomal recessive inheritance	125170	MIEF2	OMIM:619024
HP:0000007	Autosomal recessive inheritance	23236	PLCB1	OMIM:613722
HP:0000007	Autosomal recessive inheritance	29969	MDFIC	OMIM:620014
HP:0000007	Autosomal recessive inheritance	6342	SCP2	OMIM:613724
HP:0000007	Autosomal recessive inheritance	3082	HGF	OMIM:608265
HP:0000007	Autosomal recessive inheritance	55129	ANO10	OMIM:613728
HP:0000007	Autosomal recessive inheritance	65055	REEP1	OMIM:620011
HP:0000007	Autosomal recessive inheritance	50964	SOST	OMIM:269500
HP:0000007	Autosomal recessive inheritance	5784	PTPN14	OMIM:613611
HP:0000007	Autosomal recessive inheritance	57539	WDR35	OMIM:613610
HP:0000007	Autosomal recessive inheritance	57539	WDR35	OMIM:614091
HP:0000007	Autosomal recessive inheritance	283310	OTOGL	OMIM:614944
HP:0000007	Autosomal recessive inheritance	10466	COG5	OMIM:613612
HP:0000007	Autosomal recessive inheritance	130557	ZNF513	OMIM:613617
HP:0000007	Autosomal recessive inheritance	340990	OTOG	OMIM:614945
HP:0000007	Autosomal recessive inheritance	112817	HOGA1	OMIM:613616
HP:0000007	Autosomal recessive inheritance	2542	SLC37A4	OMIM:232220
HP:0000007	Autosomal recessive inheritance	2542	SLC37A4	OMIM:232240
HP:0000007	Autosomal recessive inheritance	146183	OTOA	OMIM:607039
HP:0000007	Autosomal recessive inheritance	768206	PRCD	OMIM:610599
HP:0000007	Autosomal recessive inheritance	90411	MCFD2	OMIM:613625
HP:0000007	Autosomal recessive inheritance	79048	SECISBP2	OMIM:609698
HP:0000007	Autosomal recessive inheritance	6439	SFTPB	OMIM:265120
HP:0000007	Autosomal recessive inheritance	5119	CHMP1A	OMIM:614961
HP:0000007	Autosomal recessive inheritance	3952	LEP	OMIM:614962
HP:0000007	Autosomal recessive inheritance	966	CD59	OMIM:612300
HP:0000007	Autosomal recessive inheritance	2538	G6PC1	OMIM:232200
HP:0000007	Autosomal recessive inheritance	8792	TNFRSF11A	OMIM:612301
HP:0000007	Autosomal recessive inheritance	3953	LEPR	OMIM:614963
HP:0000007	Autosomal recessive inheritance	5624	PROC	OMIM:612304
HP:0000007	Autosomal recessive inheritance	114034	TOE1	OMIM:614969
HP:0000007	Autosomal recessive inheritance	79583	TMEM231	OMIM:614970
HP:0000007	Autosomal recessive inheritance	79583	TMEM231	OMIM:615397
HP:0000007	Autosomal recessive inheritance	1954	MEGF8	OMIM:614976
HP:0000007	Autosomal recessive inheritance	340665	CYP26C1	OMIM:614974
HP:0000007	Autosomal recessive inheritance	51293	CD320	OMIM:613646
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607014
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607016
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607015
HP:0000007	Autosomal recessive inheritance	9907	AP5Z1	OMIM:613647
HP:0000007	Autosomal recessive inheritance	79152	FA2H	OMIM:612319
HP:0000007	Autosomal recessive inheritance	5002	SLC22A18	OMIM:268210
HP:0000007	Autosomal recessive inheritance	1629	DBT	OMIM:248600
HP:0000007	Autosomal recessive inheritance	593	BCKDHA	OMIM:248600
HP:0000007	Autosomal recessive inheritance	594	BCKDHB	OMIM:248600
HP:0000007	Autosomal recessive inheritance	8456	FOXN1	OMIM:601705
HP:0000007	Autosomal recessive inheritance	712	C1QA	OMIM:613652
HP:0000007	Autosomal recessive inheritance	10056	FARSB	OMIM:613658
HP:0000007	Autosomal recessive inheritance	54499	TMCO1	OMIM:213980
HP:0000007	Autosomal recessive inheritance	23175	LPIN1	OMIM:268200
HP:0000007	Autosomal recessive inheritance	92211	CDHR1	OMIM:613660
HP:0000007	Autosomal recessive inheritance	440138	ALG11	OMIM:613661
HP:0000007	Autosomal recessive inheritance	9440	MED17	OMIM:613668
HP:0000007	Autosomal recessive inheritance	286676	ILDR1	OMIM:609646
HP:0000007	Autosomal recessive inheritance	2706	GJB2	OMIM:220290
HP:0000007	Autosomal recessive inheritance	2707	GJB3	OMIM:220290
HP:0000007	Autosomal recessive inheritance	2707	GJB3	OMIM:133200
HP:0000007	Autosomal recessive inheritance	55084	SOBP	OMIM:613671
HP:0000007	Autosomal recessive inheritance	55149	MTPAP	OMIM:613672
HP:0000007	Autosomal recessive inheritance	440193	CCDC88C	OMIM:236600
HP:0000007	Autosomal recessive inheritance	2147	F2	OMIM:613679
HP:0000007	Autosomal recessive inheritance	3753	KCNE1	OMIM:612347
HP:0000007	Autosomal recessive inheritance	445	ASS1	OMIM:215700
HP:0000007	Autosomal recessive inheritance	4942	OAT	OMIM:258870
HP:0000007	Autosomal recessive inheritance	4233	MET	OMIM:616705
HP:0000007	Autosomal recessive inheritance	22856	CHSY1	OMIM:605282
HP:0000007	Autosomal recessive inheritance	79228	THOC6	OMIM:613680
HP:0000007	Autosomal recessive inheritance	91252	SLC39A13	OMIM:612350
HP:0000007	Autosomal recessive inheritance	5962	RDX	OMIM:611022
HP:0000007	Autosomal recessive inheritance	84667	HES7	OMIM:613686
HP:0000007	Autosomal recessive inheritance	57410	SCYL1	OMIM:616719
HP:0000007	Autosomal recessive inheritance	8216	LZTR1	OMIM:605275
HP:0000007	Autosomal recessive inheritance	9663	LPIN2	OMIM:609628
HP:0000007	Autosomal recessive inheritance	64116	SLC39A8	OMIM:616721
HP:0000007	Autosomal recessive inheritance	1305	COL13A1	OMIM:616720
HP:0000007	Autosomal recessive inheritance	2622	GAS8	OMIM:616726
HP:0000007	Autosomal recessive inheritance	30062	RAX	OMIM:611038
HP:0000007	Autosomal recessive inheritance	6948	TCN2	OMIM:275350
HP:0000007	Autosomal recessive inheritance	89970	RSPRY1	OMIM:616723
HP:0000007	Autosomal recessive inheritance	3621	ING1	OMIM:275355
HP:0000007	Autosomal recessive inheritance	8795	TNFRSF10B	OMIM:275355
HP:0000007	Autosomal recessive inheritance	3981	LIG4	OMIM:606593
HP:0000007	Autosomal recessive inheritance	669	BPGM	OMIM:222800
HP:0000007	Autosomal recessive inheritance	57379	AICDA	OMIM:605258
HP:0000007	Autosomal recessive inheritance	83552	MFRP	OMIM:611040
HP:0000007	Autosomal recessive inheritance	83552	MFRP	OMIM:609549
HP:0000007	Autosomal recessive inheritance	10229	COQ7	OMIM:616733
HP:0000007	Autosomal recessive inheritance	11151	CORO1A	OMIM:615401
HP:0000007	Autosomal recessive inheritance	440275	EIF2AK4	OMIM:234810
HP:0000007	Autosomal recessive inheritance	84816	RTN4IP1	OMIM:616732
HP:0000007	Autosomal recessive inheritance	6900	CNTN2	OMIM:615400
HP:0000007	Autosomal recessive inheritance	3176	HNMT	OMIM:616739
HP:0000007	Autosomal recessive inheritance	2729	GCLC	OMIM:230450
HP:0000007	Autosomal recessive inheritance	7037	TFRC	OMIM:616740
HP:0000007	Autosomal recessive inheritance	2657	GDF1	OMIM:208530
HP:0000007	Autosomal recessive inheritance	80746	TSEN2	OMIM:612389
HP:0000007	Autosomal recessive inheritance	1911	PHC1	OMIM:615414
HP:0000007	Autosomal recessive inheritance	51151	SLC45A2	OMIM:606574
HP:0000007	Autosomal recessive inheritance	291	SLC25A4	OMIM:615418
HP:0000007	Autosomal recessive inheritance	118856	MMP21	OMIM:616749
HP:0000007	Autosomal recessive inheritance	259232	NALCN	OMIM:615419
HP:0000007	Autosomal recessive inheritance	79042	TSEN34	OMIM:612390
HP:0000007	Autosomal recessive inheritance	8985	PLOD3	OMIM:612394
HP:0000007	Autosomal recessive inheritance	57449	PLEKHG5	OMIM:611067
HP:0000007	Autosomal recessive inheritance	57449	PLEKHG5	OMIM:615376
HP:0000007	Autosomal recessive inheritance	57531	HACE1	OMIM:616756
HP:0000007	Autosomal recessive inheritance	84173	ELMOD3	OMIM:615429
HP:0000007	Autosomal recessive inheritance	10568	SLC34A2	OMIM:265100
HP:0000007	Autosomal recessive inheritance	1589	CYP21A2	OMIM:201910
HP:0000007	Autosomal recessive inheritance	4043	LRPAP1	OMIM:615431
HP:0000007	Autosomal recessive inheritance	147183	KRT25	OMIM:616760
HP:0000007	Autosomal recessive inheritance	5732	PTGER2	OMIM:208550
HP:0000007	Autosomal recessive inheritance	23568	ARL2BP	OMIM:615434
HP:0000007	Autosomal recessive inheritance	64857	PLEKHG2	OMIM:616763
HP:0000007	Autosomal recessive inheritance	3514	IGKC	OMIM:614102
HP:0000007	Autosomal recessive inheritance	51520	LARS1	OMIM:615438
HP:0000007	Autosomal recessive inheritance	4329	ALDH6A1	OMIM:614105
HP:0000007	Autosomal recessive inheritance	80781	COL18A1	OMIM:267750
HP:0000007	Autosomal recessive inheritance	10345	TRDN	OMIM:615441
HP:0000007	Autosomal recessive inheritance	5162	PDHB	OMIM:614111
HP:0000007	Autosomal recessive inheritance	60528	ELAC2	OMIM:615440
HP:0000007	Autosomal recessive inheritance	10293	TRAIP	OMIM:616777
HP:0000007	Autosomal recessive inheritance	9702	CEP57	OMIM:614114
HP:0000007	Autosomal recessive inheritance	92335	STRADA	OMIM:611087
HP:0000007	Autosomal recessive inheritance	84660	CCDC62	OMIM:619803
HP:0000007	Autosomal recessive inheritance	10319	LAMC3	OMIM:614115
HP:0000007	Autosomal recessive inheritance	51364	ZMYND10	OMIM:615444
HP:0000007	Autosomal recessive inheritance	5294	PIK3CG	OMIM:619802
HP:0000007	Autosomal recessive inheritance	9897	WASHC5	OMIM:220210
HP:0000007	Autosomal recessive inheritance	347688	TUBB8	OMIM:616780
HP:0000007	Autosomal recessive inheritance	54888	NSUN2	OMIM:611091
HP:0000007	Autosomal recessive inheritance	2898	GRIK2	OMIM:611092
HP:0000007	Autosomal recessive inheritance	7991	TUSC3	OMIM:611093
HP:0000007	Autosomal recessive inheritance	23247	KATNIP	OMIM:616784
HP:0000007	Autosomal recessive inheritance	1537	CYC1	OMIM:615453
HP:0000007	Autosomal recessive inheritance	55130	ODAD2	OMIM:615451
HP:0000007	Autosomal recessive inheritance	3655	ITGA6	OMIM:619817
HP:0000007	Autosomal recessive inheritance	8192	CLPP	OMIM:614129
HP:0000007	Autosomal recessive inheritance	170692	ADAMTS18	OMIM:615458
HP:0000007	Autosomal recessive inheritance	9939	RBM8A	OMIM:274000
HP:0000007	Autosomal recessive inheritance	115286	SLC25A26	OMIM:616794
HP:0000007	Autosomal recessive inheritance	4643	MYO1E	OMIM:614131
HP:0000007	Autosomal recessive inheritance	10892	MALT1	OMIM:615468
HP:0000007	Autosomal recessive inheritance	199720	GGN	OMIM:619826
HP:0000007	Autosomal recessive inheritance	1297	COL9A1	OMIM:614134
HP:0000007	Autosomal recessive inheritance	55367	PIDD1	OMIM:619827
HP:0000007	Autosomal recessive inheritance	5161	PDHA2	OMIM:619828
HP:0000007	Autosomal recessive inheritance	6929	TCF3	OMIM:619824
HP:0000007	Autosomal recessive inheritance	23141	ANKLE2	OMIM:616681
HP:0000007	Autosomal recessive inheritance	4099	MAG	OMIM:616680
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615350
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615351
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615352
HP:0000007	Autosomal recessive inheritance	6834	SURF1	OMIM:616684
HP:0000007	Autosomal recessive inheritance	6834	SURF1	OMIM:220110
HP:0000007	Autosomal recessive inheritance	5723	PSPH	OMIM:614023
HP:0000007	Autosomal recessive inheritance	9524	TECR	OMIM:614020
HP:0000007	Autosomal recessive inheritance	2132	EXT2	OMIM:616682
HP:0000007	Autosomal recessive inheritance	253017	TECRL	OMIM:614021
HP:0000007	Autosomal recessive inheritance	51126	NAA20	OMIM:619717
HP:0000007	Autosomal recessive inheritance	3990	LIPC	OMIM:614025
HP:0000007	Autosomal recessive inheritance	60684	TRAPPC11	OMIM:615356
HP:0000007	Autosomal recessive inheritance	19	ABCA1	OMIM:205400
HP:0000007	Autosomal recessive inheritance	144132	DNHD1	OMIM:619712
HP:0000007	Autosomal recessive inheritance	6898	TAT	OMIM:276600
HP:0000007	Autosomal recessive inheritance	84942	WDR73	OMIM:251300
HP:0000007	Autosomal recessive inheritance	10060	ABCC9	OMIM:619719
HP:0000007	Autosomal recessive inheritance	3891	KRT85	OMIM:602032
HP:0000007	Autosomal recessive inheritance	3973	LHCGR	OMIM:238320
HP:0000007	Autosomal recessive inheritance	392255	GDF6	OMIM:615360
HP:0000007	Autosomal recessive inheritance	6716	SRD5A2	OMIM:264600
HP:0000007	Autosomal recessive inheritance	3162	HMOX1	OMIM:614034
HP:0000007	Autosomal recessive inheritance	8722	CTSF	OMIM:615362
HP:0000007	Autosomal recessive inheritance	5322	PLA2G5	OMIM:228980
HP:0000007	Autosomal recessive inheritance	2099	ESR1	OMIM:615363
HP:0000007	Autosomal recessive inheritance	2175	FANCA	OMIM:227650
HP:0000007	Autosomal recessive inheritance	4056	LTC4S	OMIM:614037
HP:0000007	Autosomal recessive inheritance	1785	DNM2	OMIM:615368
HP:0000007	Autosomal recessive inheritance	79639	TMEM53	OMIM:619727
HP:0000007	Autosomal recessive inheritance	23562	CLDN14	OMIM:614035
HP:0000007	Autosomal recessive inheritance	140803	TRPM6	OMIM:602014
HP:0000007	Autosomal recessive inheritance	84572	GNPTG	OMIM:252605
HP:0000007	Autosomal recessive inheritance	196527	ANO6	OMIM:262890
HP:0000007	Autosomal recessive inheritance	9364	RAB28	OMIM:615374
HP:0000007	Autosomal recessive inheritance	9692	PRORP	OMIM:619737
HP:0000007	Autosomal recessive inheritance	4160	MC4R	OMIM:618406
HP:0000007	Autosomal recessive inheritance	51319	RSRC1	OMIM:618402
HP:0000007	Autosomal recessive inheritance	7920	ABHD16A	OMIM:619735
HP:0000007	Autosomal recessive inheritance	8560	DEGS1	OMIM:618404
HP:0000007	Autosomal recessive inheritance	4323	MMP14	OMIM:277950
HP:0000007	Autosomal recessive inheritance	203286	ANKS6	OMIM:615382
HP:0000007	Autosomal recessive inheritance	54968	TMEM70	OMIM:614052
HP:0000007	Autosomal recessive inheritance	388551	CEACAM16	OMIM:618410
HP:0000007	Autosomal recessive inheritance	5442	POLRMT	OMIM:619743
HP:0000007	Autosomal recessive inheritance	6712	SPTBN2	OMIM:615386
HP:0000007	Autosomal recessive inheritance	28755	TRAC	OMIM:615387
HP:0000007	Autosomal recessive inheritance	514	ATP5F1E	OMIM:614053
HP:0000007	Autosomal recessive inheritance	269	AMHR2	OMIM:261550
HP:0000007	Autosomal recessive inheritance	268	AMH	OMIM:261550
HP:0000007	Autosomal recessive inheritance	55012	PPP2R3C	OMIM:618419
HP:0000007	Autosomal recessive inheritance	4632	MYL1	OMIM:618414
HP:0000007	Autosomal recessive inheritance	200734	SPRED2	OMIM:619745
HP:0000007	Autosomal recessive inheritance	23268	DNMBP	OMIM:618415
HP:0000007	Autosomal recessive inheritance	284439	SLC25A42	OMIM:618416
HP:0000007	Autosomal recessive inheritance	9529	BAG5	OMIM:619747
HP:0000007	Autosomal recessive inheritance	339983	NAT8L	OMIM:614063
HP:0000007	Autosomal recessive inheritance	23262	PPIP5K2	OMIM:618422
HP:0000007	Autosomal recessive inheritance	10717	AP4B1	OMIM:614066
HP:0000007	Autosomal recessive inheritance	51604	PIGT	OMIM:615398
HP:0000007	Autosomal recessive inheritance	11154	AP4S1	OMIM:614067
HP:0000007	Autosomal recessive inheritance	65080	MRPL44	OMIM:615395
HP:0000007	Autosomal recessive inheritance	199223	TTC21A	OMIM:618429
HP:0000007	Autosomal recessive inheritance	9841	ZBTB24	OMIM:614069
HP:0000007	Autosomal recessive inheritance	4808	NHLH2	OMIM:619755
HP:0000007	Autosomal recessive inheritance	2592	GALT	OMIM:230400
HP:0000007	Autosomal recessive inheritance	7701	ZNF142	OMIM:618425
HP:0000007	Autosomal recessive inheritance	8021	NUP214	OMIM:618426
HP:0000007	Autosomal recessive inheritance	1180	CLCN1	OMIM:255700
HP:0000007	Autosomal recessive inheritance	285362	SUMF1	OMIM:272200
HP:0000007	Autosomal recessive inheritance	89781	HPS4	OMIM:614073
HP:0000007	Autosomal recessive inheritance	150365	MEI1	OMIM:618431
HP:0000007	Autosomal recessive inheritance	11234	HPS5	OMIM:614074
HP:0000007	Autosomal recessive inheritance	79703	TOP6BL	OMIM:618432
HP:0000007	Autosomal recessive inheritance	84071	ARMC2	OMIM:618433
HP:0000007	Autosomal recessive inheritance	84343	HPS3	OMIM:614072
HP:0000007	Autosomal recessive inheritance	388552	BLOC1S3	OMIM:614077
HP:0000007	Autosomal recessive inheritance	54928	BPNT2	OMIM:614078
HP:0000007	Autosomal recessive inheritance	51098	IFT52	OMIM:617102
HP:0000007	Autosomal recessive inheritance	79803	HPS6	OMIM:614075
HP:0000007	Autosomal recessive inheritance	84062	DTNBP1	OMIM:614076
HP:0000007	Autosomal recessive inheritance	4437	MSH3	OMIM:617100
HP:0000007	Autosomal recessive inheritance	9158	FIBP	OMIM:617107
HP:0000007	Autosomal recessive inheritance	25973	PARS2	OMIM:618437
HP:0000007	Autosomal recessive inheritance	11261	CHP1	OMIM:618438
HP:0000007	Autosomal recessive inheritance	540	ATP7B	OMIM:277900
HP:0000007	Autosomal recessive inheritance	2035	EPB41	OMIM:611804
HP:0000007	Autosomal recessive inheritance	7439	BEST1	OMIM:611809
HP:0000007	Autosomal recessive inheritance	2651	GCNT2	OMIM:116700
HP:0000007	Autosomal recessive inheritance	23556	PIGN	OMIM:614080
HP:0000007	Autosomal recessive inheritance	64135	IFIH1	OMIM:619773
HP:0000007	Autosomal recessive inheritance	3978	LIG1	OMIM:619774
HP:0000007	Autosomal recessive inheritance	4123	MAN2C1	OMIM:619775
HP:0000007	Autosomal recessive inheritance	55120	FANCL	OMIM:614083
HP:0000007	Autosomal recessive inheritance	339855	KY	OMIM:617114
HP:0000007	Autosomal recessive inheritance	5286	PIK3C2A	OMIM:618440
HP:0000007	Autosomal recessive inheritance	5818	NECTIN1	OMIM:225060
HP:0000007	Autosomal recessive inheritance	5271	SERPINB8	OMIM:617115
HP:0000007	Autosomal recessive inheritance	246176	GAS2L2	OMIM:618449
HP:0000007	Autosomal recessive inheritance	54361	WNT4	OMIM:611812
HP:0000007	Autosomal recessive inheritance	57192	MCOLN1	OMIM:252650
HP:0000007	Autosomal recessive inheritance	79628	SH3TC2	OMIM:601596
HP:0000007	Autosomal recessive inheritance	81704	DOCK8	OMIM:243700
HP:0000007	Autosomal recessive inheritance	26100	WIPI2	OMIM:618453
HP:0000007	Autosomal recessive inheritance	10750	GRAP	OMIM:618456
HP:0000007	Autosomal recessive inheritance	1308	COL17A1	OMIM:619787
HP:0000007	Autosomal recessive inheritance	79882	ZC3H14	OMIM:617125
HP:0000007	Autosomal recessive inheritance	3980	LIG3	OMIM:619780
HP:0000007	Autosomal recessive inheritance	84695	LOXL3	OMIM:619781
HP:0000007	Autosomal recessive inheritance	847	CAT	OMIM:614097
HP:0000007	Autosomal recessive inheritance	3658	IREB2	OMIM:618451
HP:0000007	Autosomal recessive inheritance	6878	TAF6	OMIM:617126
HP:0000007	Autosomal recessive inheritance	124976	SPNS2	OMIM:618457
HP:0000007	Autosomal recessive inheritance	29127	RACGAP1	OMIM:619789
HP:0000007	Autosomal recessive inheritance	9138	ARHGEF1	OMIM:618459
HP:0000007	Autosomal recessive inheritance	79876	UBA5	OMIM:617132
HP:0000007	Autosomal recessive inheritance	79876	UBA5	OMIM:617133
HP:0000007	Autosomal recessive inheritance	79879	CCDC134	OMIM:619795
HP:0000007	Autosomal recessive inheritance	8288	EPX	OMIM:261500
HP:0000007	Autosomal recessive inheritance	54892	NCAPG2	OMIM:618460
HP:0000007	Autosomal recessive inheritance	2048	EPHB2	OMIM:618462
HP:0000007	Autosomal recessive inheritance	335	APOA1	OMIM:618463
HP:0000007	Autosomal recessive inheritance	51412	ACTL6B	OMIM:618468
HP:0000007	Autosomal recessive inheritance	11055	ZPBP	OMIM:619799
HP:0000007	Autosomal recessive inheritance	4621	MYH3	OMIM:618469
HP:0000007	Autosomal recessive inheritance	3875	KRT18	OMIM:215600
HP:0000007	Autosomal recessive inheritance	4143	MAT1A	OMIM:250850
HP:0000007	Autosomal recessive inheritance	10102	TSFM	OMIM:610505
HP:0000007	Autosomal recessive inheritance	60482	SLC5A7	OMIM:617143
HP:0000007	Autosomal recessive inheritance	1436	CSF1R	OMIM:618476
HP:0000007	Autosomal recessive inheritance	9154	SLC28A1	OMIM:618477
HP:0000007	Autosomal recessive inheritance	63895	PIEZO2	OMIM:617146
HP:0000007	Autosomal recessive inheritance	8878	SQSTM1	OMIM:617145
HP:0000007	Autosomal recessive inheritance	4081	MAB21L1	OMIM:618479
HP:0000007	Autosomal recessive inheritance	1725	DHPS	OMIM:618480
HP:0000007	Autosomal recessive inheritance	124842	TMEM132E	OMIM:618481
HP:0000007	Autosomal recessive inheritance	2159	F10	OMIM:227600
HP:0000007	Autosomal recessive inheritance	4125	MAN2B1	OMIM:248500
HP:0000007	Autosomal recessive inheritance	54496	PRMT7	OMIM:617157
HP:0000007	Autosomal recessive inheritance	7019	TFAM	OMIM:617156
HP:0000007	Autosomal recessive inheritance	444	ASPH	OMIM:601552
HP:0000007	Autosomal recessive inheritance	3158	HMGCS2	OMIM:605911
HP:0000007	Autosomal recessive inheritance	1781	DYNC1I2	OMIM:618492
HP:0000007	Autosomal recessive inheritance	774	CACNA1B	OMIM:618497
HP:0000007	Autosomal recessive inheritance	285600	KIAA0825	OMIM:618498
HP:0000007	Autosomal recessive inheritance	3977	LIFR	OMIM:601559
HP:0000007	Autosomal recessive inheritance	54681	P4HTM	OMIM:618493
HP:0000007	Autosomal recessive inheritance	4126	MANBA	OMIM:248510
HP:0000007	Autosomal recessive inheritance	3560	IL2RB	OMIM:618495
HP:0000007	Autosomal recessive inheritance	84668	HYCC1	OMIM:610532
HP:0000007	Autosomal recessive inheritance	6690	SPINK1	OMIM:608189
HP:0000007	Autosomal recessive inheritance	650	BMP2	OMIM:235200
HP:0000007	Autosomal recessive inheritance	10522	DEAF1	OMIM:617171
HP:0000007	Autosomal recessive inheritance	4882	NPR2	OMIM:602875
HP:0000007	Autosomal recessive inheritance	2998	GYS2	OMIM:240600
HP:0000007	Autosomal recessive inheritance	55213	RCBTB1	OMIM:617175
HP:0000007	Autosomal recessive inheritance	65018	PINK1	OMIM:605909
HP:0000007	Autosomal recessive inheritance	6424	SFRP4	OMIM:265900
HP:0000007	Autosomal recessive inheritance	10681	GNB5	OMIM:617173
HP:0000007	Autosomal recessive inheritance	10681	GNB5	OMIM:617182
HP:0000007	Autosomal recessive inheritance	145173	B3GLCT	OMIM:261540
HP:0000007	Autosomal recessive inheritance	10653	SPINT2	OMIM:270420
HP:0000007	Autosomal recessive inheritance	140732	SUN5	OMIM:617187
HP:0000007	Autosomal recessive inheritance	128240	NAXE	OMIM:617186
HP:0000007	Autosomal recessive inheritance	3198	HOXA1	OMIM:601536
HP:0000007	Autosomal recessive inheritance	51715	RAB23	OMIM:201000
HP:0000007	Autosomal recessive inheritance	79143	MBOAT7	OMIM:617188
HP:0000007	Autosomal recessive inheritance	7137	TNNI3	OMIM:611880
HP:0000007	Autosomal recessive inheritance	197	AHSG	OMIM:203650
HP:0000007	Autosomal recessive inheritance	226	ALDOA	OMIM:611881
HP:0000007	Autosomal recessive inheritance	81622	UNC93B1	OMIM:610551
HP:0000007	Autosomal recessive inheritance	8701	DNAH11	OMIM:611884
HP:0000007	Autosomal recessive inheritance	4604	MYBPC1	OMIM:614915
HP:0000007	Autosomal recessive inheritance	4222	MEOX1	OMIM:214300
HP:0000007	Autosomal recessive inheritance	342035	GLDN	OMIM:617194
HP:0000007	Autosomal recessive inheritance	6904	TBCD	OMIM:617193
HP:0000007	Autosomal recessive inheritance	2177	FANCD2	OMIM:227646
HP:0000007	Autosomal recessive inheritance	5345	SERPINF2	OMIM:262850
HP:0000007	Autosomal recessive inheritance	2176	FANCC	OMIM:227645
HP:0000007	Autosomal recessive inheritance	5236	PGM1	OMIM:614921
HP:0000007	Autosomal recessive inheritance	55005	RMND1	OMIM:614922
HP:0000007	Autosomal recessive inheritance	8799	PEX11B	OMIM:614920
HP:0000007	Autosomal recessive inheritance	3295	HSD17B4	OMIM:261515
HP:0000007	Autosomal recessive inheritance	3295	HSD17B4	OMIM:233400
HP:0000007	Autosomal recessive inheritance	23438	HARS2	OMIM:614926
HP:0000007	Autosomal recessive inheritance	124454	EARS2	OMIM:614924
HP:0000007	Autosomal recessive inheritance	121391	KRT74	OMIM:614929
HP:0000007	Autosomal recessive inheritance	55074	OXR1	OMIM:213000
HP:0000007	Autosomal recessive inheritance	389434	IYD	OMIM:274800
HP:0000007	Autosomal recessive inheritance	3827	KNG1	OMIM:228960
HP:0000007	Autosomal recessive inheritance	87178	PNPT1	OMIM:614932
HP:0000007	Autosomal recessive inheritance	87178	PNPT1	OMIM:614934
HP:0000007	Autosomal recessive inheritance	3708	ITPR1	OMIM:206700
HP:0000007	Autosomal recessive inheritance	3229	HOXC13	OMIM:614931
HP:0000007	Autosomal recessive inheritance	3480	IGF1R	OMIM:270450
HP:0000007	Autosomal recessive inheritance	23639	DNAAF11	OMIM:614935
HP:0000007	Autosomal recessive inheritance	374407	DNAJB13	OMIM:617091
HP:0000007	Autosomal recessive inheritance	11113	CIT	OMIM:617090
HP:0000007	Autosomal recessive inheritance	10128	LRPPRC	OMIM:220111
HP:0000007	Autosomal recessive inheritance	64327	LMBR1	OMIM:200500
HP:0000007	Autosomal recessive inheritance	3376	IARS1	OMIM:617093
HP:0000007	Autosomal recessive inheritance	83538	ODAD4	OMIM:617092
HP:0000007	Autosomal recessive inheritance	90268	OTULIN	OMIM:617099
HP:0000007	Autosomal recessive inheritance	4574	MT-TS1	OMIM:220110
HP:0000007	Autosomal recessive inheritance	4570	MT-TN	OMIM:220110
HP:0000007	Autosomal recessive inheritance	7172	TPMT	OMIM:610460
HP:0000007	Autosomal recessive inheritance	6091	ROBO1	OMIM:257400
HP:0000007	Autosomal recessive inheritance	11136	SLC7A9	OMIM:220100
HP:0000007	Autosomal recessive inheritance	6519	SLC3A1	OMIM:220100
HP:0000007	Autosomal recessive inheritance	8443	GNPAT	OMIM:222765
HP:0000007	Autosomal recessive inheritance	2261	FGFR3	OMIM:610474
HP:0000007	Autosomal recessive inheritance	973	CD79A	OMIM:613501
HP:0000007	Autosomal recessive inheritance	25914	RTTN	OMIM:614833
HP:0000007	Autosomal recessive inheritance	3543	IGLL1	OMIM:613500
HP:0000007	Autosomal recessive inheritance	1824	DSC2	OMIM:610476
HP:0000007	Autosomal recessive inheritance	2911	GRM1	OMIM:614831
HP:0000007	Autosomal recessive inheritance	29760	BLNK	OMIM:613502
HP:0000007	Autosomal recessive inheritance	152816	ODAPH	OMIM:614832
HP:0000007	Autosomal recessive inheritance	93589	CACNA2D4	OMIM:610478
HP:0000007	Autosomal recessive inheritance	84634	KISS1R	OMIM:614837
HP:0000007	Autosomal recessive inheritance	6866	TAC3	OMIM:614839
HP:0000007	Autosomal recessive inheritance	6870	TACR3	OMIM:614840
HP:0000007	Autosomal recessive inheritance	23090	ZNF423	OMIM:614844
HP:0000007	Autosomal recessive inheritance	22897	CEP164	OMIM:614845
HP:0000007	Autosomal recessive inheritance	3814	KISS1	OMIM:614842
HP:0000007	Autosomal recessive inheritance	646960	PRSS56	OMIM:613517
HP:0000007	Autosomal recessive inheritance	8546	AP3B1	OMIM:608233
HP:0000007	Autosomal recessive inheritance	8802	SUCLG1	OMIM:245400
HP:0000007	Autosomal recessive inheritance	1717	DHCR7	OMIM:270400
HP:0000007	Autosomal recessive inheritance	132158	GLYCTK	OMIM:220120
HP:0000007	Autosomal recessive inheritance	51199	NIN	OMIM:614851
HP:0000007	Autosomal recessive inheritance	148022	TICAM1	OMIM:614850
HP:0000007	Autosomal recessive inheritance	649	BMP1	OMIM:614856
HP:0000007	Autosomal recessive inheritance	51021	MRPS16	OMIM:610498
HP:0000007	Autosomal recessive inheritance	221496	LEMD2	OMIM:212500
HP:0000007	Autosomal recessive inheritance	5826	ABCD4	OMIM:614857
HP:0000007	Autosomal recessive inheritance	6911	TBX6	OMIM:122600
HP:0000007	Autosomal recessive inheritance	1727	CYB5R3	OMIM:250800
HP:0000007	Autosomal recessive inheritance	116085	SLC22A12	OMIM:220150
HP:0000007	Autosomal recessive inheritance	197257	LDHD	OMIM:245450
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:614862
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:614863
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:616617
HP:0000007	Autosomal recessive inheritance	7498	XDH	OMIM:278300
HP:0000007	Autosomal recessive inheritance	5828	PEX2	OMIM:614866
HP:0000007	Autosomal recessive inheritance	5828	PEX2	OMIM:614867
HP:0000007	Autosomal recessive inheritance	6789	STK4	OMIM:614868
HP:0000007	Autosomal recessive inheritance	55165	CEP55	OMIM:236500
HP:0000007	Autosomal recessive inheritance	64837	KLC2	OMIM:609541
HP:0000007	Autosomal recessive inheritance	78989	COLEC11	OMIM:265050
HP:0000007	Autosomal recessive inheritance	3208	HPCA	OMIM:224500
HP:0000007	Autosomal recessive inheritance	727	C5	OMIM:609536
HP:0000007	Autosomal recessive inheritance	5192	PEX10	OMIM:614870
HP:0000007	Autosomal recessive inheritance	5192	PEX10	OMIM:614871
HP:0000007	Autosomal recessive inheritance	55670	PEX26	OMIM:614873
HP:0000007	Autosomal recessive inheritance	55670	PEX26	OMIM:614872
HP:0000007	Autosomal recessive inheritance	54919	DNAAF5	OMIM:614874
HP:0000007	Autosomal recessive inheritance	9409	PEX16	OMIM:614877
HP:0000007	Autosomal recessive inheritance	9409	PEX16	OMIM:614876
HP:0000007	Autosomal recessive inheritance	1588	CYP19A1	OMIM:613546
HP:0000007	Autosomal recessive inheritance	7837	PXDN	OMIM:269400
HP:0000007	Autosomal recessive inheritance	9342	SNAP29	OMIM:609528
HP:0000007	Autosomal recessive inheritance	3300	DNAJB2	OMIM:614881
HP:0000007	Autosomal recessive inheritance	5194	PEX13	OMIM:614885
HP:0000007	Autosomal recessive inheritance	5194	PEX13	OMIM:614883
HP:0000007	Autosomal recessive inheritance	50628	GEMIN4	OMIM:617913
HP:0000007	Autosomal recessive inheritance	3460	IFNGR2	OMIM:614889
HP:0000007	Autosomal recessive inheritance	140628	GATA5	OMIM:617912
HP:0000007	Autosomal recessive inheritance	5078	PAX4	OMIM:612227
HP:0000007	Autosomal recessive inheritance	5824	PEX19	OMIM:614886
HP:0000007	Autosomal recessive inheritance	2056	EPO	OMIM:617911
HP:0000007	Autosomal recessive inheritance	5195	PEX14	OMIM:614887
HP:0000007	Autosomal recessive inheritance	1384	CRAT	OMIM:617917
HP:0000007	Autosomal recessive inheritance	85021	REPS1	OMIM:617916
HP:0000007	Autosomal recessive inheritance	4990	SIX6	OMIM:212550
HP:0000007	Autosomal recessive inheritance	80067	DCAF17	OMIM:241080
HP:0000007	Autosomal recessive inheritance	3594	IL12RB1	OMIM:614891
HP:0000007	Autosomal recessive inheritance	51067	YARS2	OMIM:613561
HP:0000007	Autosomal recessive inheritance	3593	IL12B	OMIM:614890
HP:0000007	Autosomal recessive inheritance	10457	GPNMB	OMIM:617920
HP:0000007	Autosomal recessive inheritance	776	CACNA1D	OMIM:614896
HP:0000007	Autosomal recessive inheritance	3329	HSPD1	OMIM:612233
HP:0000007	Autosomal recessive inheritance	27152	INTU	OMIM:617925
HP:0000007	Autosomal recessive inheritance	27152	INTU	OMIM:617926
HP:0000007	Autosomal recessive inheritance	51475	CABP2	OMIM:614899
HP:0000007	Autosomal recessive inheritance	1261	CNGA3	OMIM:216900
HP:0000007	Autosomal recessive inheritance	137492	VPS37A	OMIM:614898
HP:0000007	Autosomal recessive inheritance	10695	CNPY3	OMIM:617929
HP:0000007	Autosomal recessive inheritance	55081	IFT57	OMIM:617927
HP:0000007	Autosomal recessive inheritance	7051	TGM1	OMIM:242300
HP:0000007	Autosomal recessive inheritance	4683	NBN	OMIM:251260
HP:0000007	Autosomal recessive inheritance	81607	NECTIN4	OMIM:613573
HP:0000007	Autosomal recessive inheritance	590	BCHE	OMIM:617936
HP:0000007	Autosomal recessive inheritance	53616	ADAM22	OMIM:617933
HP:0000007	Autosomal recessive inheritance	50939	IMPG2	OMIM:613581
HP:0000007	Autosomal recessive inheritance	79631	EFL1	OMIM:617941
HP:0000007	Autosomal recessive inheritance	51116	MRPS2	OMIM:617950
HP:0000007	Autosomal recessive inheritance	4615	MYD88	OMIM:612260
HP:0000007	Autosomal recessive inheritance	9512	PMPCB	OMIM:617954
HP:0000007	Autosomal recessive inheritance	6097	RORC	OMIM:616622
HP:0000007	Autosomal recessive inheritance	55603	TENT5A	OMIM:617952
HP:0000007	Autosomal recessive inheritance	2058	EPRS1	OMIM:617951
HP:0000007	Autosomal recessive inheritance	1063	CENPF	OMIM:243605
HP:0000007	Autosomal recessive inheritance	26146	TRAF3IP1	OMIM:616629
HP:0000007	Autosomal recessive inheritance	79846	CFAP69	OMIM:617959
HP:0000007	Autosomal recessive inheritance	9056	SLC7A7	OMIM:222700
HP:0000007	Autosomal recessive inheritance	3549	IHH	OMIM:607778
HP:0000007	Autosomal recessive inheritance	1757	SARDH	OMIM:268900
HP:0000007	Autosomal recessive inheritance	80705	TSGA10	OMIM:617961
HP:0000007	Autosomal recessive inheritance	56154	TEX15	OMIM:617960
HP:0000007	Autosomal recessive inheritance	122481	AK7	OMIM:617965
HP:0000007	Autosomal recessive inheritance	1729	DIAPH1	OMIM:616632
HP:0000007	Autosomal recessive inheritance	175	AGA	OMIM:208400
HP:0000007	Autosomal recessive inheritance	5116	PCNT	OMIM:210720
HP:0000007	Autosomal recessive inheritance	27130	INVS	OMIM:602088
HP:0000007	Autosomal recessive inheritance	8820	HESX1	OMIM:182230
HP:0000007	Autosomal recessive inheritance	51128	SAR1B	OMIM:246700
HP:0000007	Autosomal recessive inheritance	2328	FMO3	OMIM:602079
HP:0000007	Autosomal recessive inheritance	401	PHOX2A	OMIM:602078
HP:0000007	Autosomal recessive inheritance	80270	HSD3B7	OMIM:607765
HP:0000007	Autosomal recessive inheritance	6505	SLC1A1	OMIM:222730
HP:0000007	Autosomal recessive inheritance	348938	NIPAL4	OMIM:612281
HP:0000007	Autosomal recessive inheritance	56978	PRDM8	OMIM:616640
HP:0000007	Autosomal recessive inheritance	57468	SLC12A5	OMIM:616645
HP:0000007	Autosomal recessive inheritance	10815	CPLX1	OMIM:617976
HP:0000007	Autosomal recessive inheritance	2588	GALNS	OMIM:253000
HP:0000007	Autosomal recessive inheritance	3704	ITPA	OMIM:616647
HP:0000007	Autosomal recessive inheritance	56270	WDR45B	OMIM:617977
HP:0000007	Autosomal recessive inheritance	79783	SUGCT	OMIM:231690
HP:0000007	Autosomal recessive inheritance	3199	HOXA2	OMIM:612290
HP:0000007	Autosomal recessive inheritance	200894	ARL13B	OMIM:612291
HP:0000007	Autosomal recessive inheritance	9918	NCAPD2	OMIM:617983
HP:0000007	Autosomal recessive inheritance	23397	NCAPH	OMIM:617985
HP:0000007	Autosomal recessive inheritance	23310	NCAPD3	OMIM:617984
HP:0000007	Autosomal recessive inheritance	6509	SLC1A4	OMIM:616657
HP:0000007	Autosomal recessive inheritance	54676	GTPBP2	OMIM:617988
HP:0000007	Autosomal recessive inheritance	100506658	OCLN	OMIM:251290
HP:0000007	Autosomal recessive inheritance	7253	TSHR	OMIM:275200
HP:0000007	Autosomal recessive inheritance	3284	HSD3B2	OMIM:201810
HP:0000007	Autosomal recessive inheritance	9365	KL	OMIM:617994
HP:0000007	Autosomal recessive inheritance	8074	FGF23	OMIM:617993
HP:0000007	Autosomal recessive inheritance	494551	WEE2	OMIM:617996
HP:0000007	Autosomal recessive inheritance	8815	BANF1	OMIM:614008
HP:0000007	Autosomal recessive inheritance	3455	IFNAR2	OMIM:616669
HP:0000007	Autosomal recessive inheritance	51294	PCDH12	OMIM:251280
HP:0000007	Autosomal recessive inheritance	1807	DPYS	OMIM:222748
HP:0000007	Autosomal recessive inheritance	2639	GCDH	OMIM:231670
HP:0000007	Autosomal recessive inheritance	10516	FBLN5	OMIM:219100
HP:0000007	Autosomal recessive inheritance	7148	TNXB	OMIM:606408
HP:0000007	Autosomal recessive inheritance	4747	NEFL	OMIM:607734
HP:0000007	Autosomal recessive inheritance	79587	CARS2	OMIM:616672
HP:0000007	Autosomal recessive inheritance	85378	TUBGCP6	OMIM:251270
HP:0000007	Autosomal recessive inheritance	96459	FNIP1	OMIM:619705
HP:0000007	Autosomal recessive inheritance	55753	OGDHL	OMIM:619701
HP:0000007	Autosomal recessive inheritance	131377	KLHL40	OMIM:615348
HP:0000007	Autosomal recessive inheritance	83544	DNAL1	OMIM:614017
HP:0000007	Autosomal recessive inheritance	100128908	CIROP	OMIM:619702
HP:0000007	Autosomal recessive inheritance	2108	ETFA	OMIM:231680
HP:0000007	Autosomal recessive inheritance	2109	ETFB	OMIM:231680
HP:0000007	Autosomal recessive inheritance	2110	ETFDH	OMIM:231680
HP:0000007	Autosomal recessive inheritance	8328	GFI1B	OMIM:187900
HP:0000007	Autosomal recessive inheritance	2582	GALE	OMIM:230350
HP:0031364	Ecchymosis	1281	COL3A1	OMIM:130050
HP:0031364	Ecchymosis	2165	F13B	ORPHA:331
HP:0031364	Ecchymosis	2165	F13B	OMIM:613235
HP:0031364	Ecchymosis	2162	F13A1	ORPHA:331
HP:0031364	Ecchymosis	2162	F13A1	OMIM:613225
HP:0031364	Ecchymosis	3674	ITGA2B	OMIM:273800
HP:0031364	Ecchymosis	3674	ITGA2B	ORPHA:849
HP:0031364	Ecchymosis	3674	ITGA2B	ORPHA:853
HP:0031364	Ecchymosis	84196	USP48	ORPHA:96253
HP:0031364	Ecchymosis	7157	TP53	ORPHA:96253
HP:0031364	Ecchymosis	9101	USP8	ORPHA:96253
HP:0031364	Ecchymosis	9101	USP8	OMIM:219090
HP:0031364	Ecchymosis	64072	CDH23	ORPHA:96253
HP:0031364	Ecchymosis	2908	NR3C1	ORPHA:96253
HP:0031364	Ecchymosis	673	BRAF	ORPHA:96253
HP:0031364	Ecchymosis	546	ATRX	ORPHA:96253
HP:0031364	Ecchymosis	2811	GP1BA	OMIM:153670
HP:0031364	Ecchymosis	2811	GP1BA	ORPHA:853
HP:0031364	Ecchymosis	3458	IFNG	ORPHA:88
HP:0031364	Ecchymosis	5551	PRF1	ORPHA:88
HP:0031364	Ecchymosis	5551	PRF1	ORPHA:540
HP:0031364	Ecchymosis	7012	TERC	ORPHA:88
HP:0031364	Ecchymosis	51119	SBDS	ORPHA:88
HP:0031364	Ecchymosis	7015	TERT	ORPHA:88
HP:0031364	Ecchymosis	2629	GBA1	ORPHA:2072
HP:0031364	Ecchymosis	2677	GGCX	OMIM:277450
HP:0031364	Ecchymosis	51206	GP6	OMIM:614201
HP:0031364	Ecchymosis	6915	TBXA2R	OMIM:614009
HP:0031364	Ecchymosis	3257	HPS1	OMIM:203300
HP:0031364	Ecchymosis	3690	ITGB3	ORPHA:849
HP:0031364	Ecchymosis	3690	ITGB3	ORPHA:853
HP:0031364	Ecchymosis	2147	F2	OMIM:613679
HP:0031364	Ecchymosis	811	CALR	ORPHA:824
HP:0031364	Ecchymosis	4352	MPL	ORPHA:824
HP:0031364	Ecchymosis	3717	JAK2	ORPHA:824
HP:0031364	Ecchymosis	54790	TET2	ORPHA:824
HP:0031364	Ecchymosis	64805	P2RY12	OMIM:609821
HP:0031364	Ecchymosis	1277	COL1A1	ORPHA:287
HP:0031364	Ecchymosis	1289	COL5A1	ORPHA:287
HP:0031364	Ecchymosis	1290	COL5A2	ORPHA:287
HP:0031364	Ecchymosis	8676	STX11	ORPHA:540
HP:0031364	Ecchymosis	201294	UNC13D	ORPHA:540
HP:0031364	Ecchymosis	6813	STXBP2	ORPHA:540
HP:0031364	Ecchymosis	6774	STAT3	ORPHA:520
HP:0031364	Ecchymosis	5371	PML	ORPHA:520
HP:0031364	Ecchymosis	5914	RARA	ORPHA:520
HP:0031364	Ecchymosis	359948	IRF2BP2	ORPHA:520
HP:0031364	Ecchymosis	81608	FIP1L1	ORPHA:520
HP:0031364	Ecchymosis	4869	NPM1	ORPHA:520
HP:0031364	Ecchymosis	5573	PRKAR1A	ORPHA:520
HP:0031364	Ecchymosis	54880	BCOR	ORPHA:520
HP:0031364	Ecchymosis	64859	NABP1	ORPHA:520
HP:0031364	Ecchymosis	6777	STAT5B	ORPHA:520
HP:0031364	Ecchymosis	4926	NUMA1	ORPHA:520
HP:0031364	Ecchymosis	7704	ZBTB16	ORPHA:520
HP:0031364	Ecchymosis	79718	TBL1XR1	ORPHA:520
HP:0031364	Ecchymosis	113189	CHST14	OMIM:601776
HP:0031364	Ecchymosis	79803	HPS6	OMIM:614075
HP:0031364	Ecchymosis	55340	GIMAP5	OMIM:619463
HP:0031364	Ecchymosis	9049	AIP	OMIM:219090
HP:0031364	Ecchymosis	2812	GP1BB	ORPHA:853
HP:0031364	Ecchymosis	3673	ITGA2	ORPHA:853
HP:0031364	Ecchymosis	135228	CD109	ORPHA:853
HP:0031364	Ecchymosis	8328	GFI1B	OMIM:187900
HP:0031365	Macular purpura	7454	WAS	OMIM:301000
HP:0031365	Macular purpura	7454	WAS	ORPHA:906
HP:0031365	Macular purpura	7454	WAS	OMIM:313900
HP:0031365	Macular purpura	2815	GP9	ORPHA:274
HP:0031365	Macular purpura	7450	VWF	OMIM:193400
HP:0031365	Macular purpura	54809	SAMD9	OMIM:617053
HP:0031365	Macular purpura	83706	FERMT3	OMIM:612840
HP:0031365	Macular purpura	7456	WIPF1	ORPHA:906
HP:0031365	Macular purpura	23474	ETHE1	OMIM:602473
HP:0031365	Macular purpura	23474	ETHE1	ORPHA:51188
HP:0031365	Macular purpura	2157	F8	OMIM:306700
HP:0031365	Macular purpura	11277	TREX1	OMIM:225750
HP:0031365	Macular purpura	2623	GATA1	OMIM:300367
HP:0031365	Macular purpura	2623	GATA1	OMIM:314050
HP:0031365	Macular purpura	2120	ETV6	OMIM:616216
HP:0031365	Macular purpura	5184	PEPD	OMIM:170100
HP:0031365	Macular purpura	843	CASP10	OMIM:603909
HP:0031365	Macular purpura	100506658	OCLN	OMIM:251290
HP:0031365	Macular purpura	2533	FYB1	OMIM:273900
HP:0031365	Macular purpura	9630	GNA14	ORPHA:1063
HP:0031365	Macular purpura	348	APOE	ORPHA:158029
HP:0031365	Macular purpura	1186	CLCN7	OMIM:611490
HP:0031365	Macular purpura	3937	LCP2	OMIM:619374
HP:0031365	Macular purpura	11274	USP18	OMIM:617397
HP:0031365	Macular purpura	9103	FCGR2C	ORPHA:3002
HP:0031365	Macular purpura	4668	NAGA	OMIM:609242
HP:0031365	Macular purpura	64858	DCLRE1B	OMIM:620133
HP:0031365	Macular purpura	3207	HOXA11	OMIM:605432
HP:0031365	Macular purpura	5873	RAB27A	ORPHA:79477
HP:0031365	Macular purpura	4758	NEU1	ORPHA:93400
HP:0031365	Macular purpura	1281	COL3A1	OMIM:130050
HP:0031365	Macular purpura	2165	F13B	ORPHA:331
HP:0031365	Macular purpura	2165	F13B	OMIM:613235
HP:0031365	Macular purpura	2162	F13A1	ORPHA:331
HP:0031365	Macular purpura	2162	F13A1	OMIM:613225
HP:0031365	Macular purpura	3674	ITGA2B	OMIM:273800
HP:0031365	Macular purpura	3674	ITGA2B	ORPHA:849
HP:0031365	Macular purpura	3674	ITGA2B	ORPHA:853
HP:0031365	Macular purpura	84196	USP48	ORPHA:96253
HP:0031365	Macular purpura	7157	TP53	ORPHA:96253
HP:0031365	Macular purpura	9101	USP8	ORPHA:96253
HP:0031365	Macular purpura	9101	USP8	OMIM:219090
HP:0031365	Macular purpura	64072	CDH23	ORPHA:96253
HP:0031365	Macular purpura	2908	NR3C1	ORPHA:96253
HP:0031365	Macular purpura	673	BRAF	ORPHA:96253
HP:0031365	Macular purpura	546	ATRX	ORPHA:96253
HP:0031365	Macular purpura	2811	GP1BA	OMIM:153670
HP:0031365	Macular purpura	2811	GP1BA	ORPHA:853
HP:0031365	Macular purpura	3458	IFNG	ORPHA:88
HP:0031365	Macular purpura	5551	PRF1	ORPHA:88
HP:0031365	Macular purpura	5551	PRF1	ORPHA:540
HP:0031365	Macular purpura	7012	TERC	ORPHA:88
HP:0031365	Macular purpura	51119	SBDS	ORPHA:88
HP:0031365	Macular purpura	7015	TERT	ORPHA:88
HP:0031365	Macular purpura	2629	GBA1	ORPHA:2072
HP:0031365	Macular purpura	2677	GGCX	OMIM:277450
HP:0031365	Macular purpura	51206	GP6	OMIM:614201
HP:0031365	Macular purpura	6915	TBXA2R	OMIM:614009
HP:0031365	Macular purpura	3257	HPS1	OMIM:203300
HP:0031365	Macular purpura	3690	ITGB3	ORPHA:849
HP:0031365	Macular purpura	3690	ITGB3	ORPHA:853
HP:0031365	Macular purpura	2147	F2	OMIM:613679
HP:0031365	Macular purpura	811	CALR	ORPHA:824
HP:0031365	Macular purpura	4352	MPL	ORPHA:824
HP:0031365	Macular purpura	3717	JAK2	ORPHA:824
HP:0031365	Macular purpura	54790	TET2	ORPHA:824
HP:0031365	Macular purpura	64805	P2RY12	OMIM:609821
HP:0031365	Macular purpura	1277	COL1A1	ORPHA:287
HP:0031365	Macular purpura	1289	COL5A1	ORPHA:287
HP:0031365	Macular purpura	1290	COL5A2	ORPHA:287
HP:0031365	Macular purpura	8676	STX11	ORPHA:540
HP:0031365	Macular purpura	201294	UNC13D	ORPHA:540
HP:0031365	Macular purpura	6813	STXBP2	ORPHA:540
HP:0031365	Macular purpura	6774	STAT3	ORPHA:520
HP:0031365	Macular purpura	5371	PML	ORPHA:520
HP:0031365	Macular purpura	5914	RARA	ORPHA:520
HP:0031365	Macular purpura	359948	IRF2BP2	ORPHA:520
HP:0031365	Macular purpura	81608	FIP1L1	ORPHA:520
HP:0031365	Macular purpura	4869	NPM1	ORPHA:520
HP:0031365	Macular purpura	5573	PRKAR1A	ORPHA:520
HP:0031365	Macular purpura	54880	BCOR	ORPHA:520
HP:0031365	Macular purpura	64859	NABP1	ORPHA:520
HP:0031365	Macular purpura	6777	STAT5B	ORPHA:520
HP:0031365	Macular purpura	4926	NUMA1	ORPHA:520
HP:0031365	Macular purpura	7704	ZBTB16	ORPHA:520
HP:0031365	Macular purpura	79718	TBL1XR1	ORPHA:520
HP:0031365	Macular purpura	113189	CHST14	OMIM:601776
HP:0031365	Macular purpura	79803	HPS6	OMIM:614075
HP:0031365	Macular purpura	55340	GIMAP5	OMIM:619463
HP:0031365	Macular purpura	9049	AIP	OMIM:219090
HP:0031365	Macular purpura	2812	GP1BB	ORPHA:853
HP:0031365	Macular purpura	3673	ITGA2	ORPHA:853
HP:0031365	Macular purpura	135228	CD109	ORPHA:853
HP:0031365	Macular purpura	8328	GFI1B	OMIM:187900
HP:0031367	Metaphyseal striations	139285	AMER1	OMIM:300373
HP:0031367	Metaphyseal striations	64840	PORCN	OMIM:305600
HP:0031367	Metaphyseal striations	80232	WDR26	ORPHA:513456
HP:0031367	Metaphyseal striations	25782	RAB3GAP2	OMIM:212720
HP:0031367	Metaphyseal striations	4796	TONSL	ORPHA:93357
HP:0031367	Metaphyseal striations	100	ADA	OMIM:102700
HP:0031367	Metaphyseal striations	9401	RECQL4	ORPHA:221016
HP:0031367	Metaphyseal striations	3835	KIF22	ORPHA:93360
HP:0031367	Metaphyseal striations	54187	NANS	OMIM:610442
HP:0031367	Metaphyseal striations	5426	POLE	OMIM:615139
HP:0031367	Metaphyseal striations	23761	PISD	OMIM:618889
HP:0031367	Metaphyseal striations	4507	MTAP	OMIM:112250
HP:0031367	Metaphyseal striations	6023	RMRP	OMIM:250460
HP:0031367	Metaphyseal striations	64682	ANAPC1	ORPHA:221008
HP:0031368	Intestinal perforation	715	C1R	OMIM:130080
HP:0031368	Intestinal perforation	1890	TYMP	OMIM:603041
HP:0031368	Intestinal perforation	5428	POLG	OMIM:603041
HP:0031368	Intestinal perforation	567	B2M	ORPHA:314652
HP:0031368	Intestinal perforation	2627	GATA6	OMIM:600001
HP:0031369	Colon perforation	2627	GATA6	OMIM:600001
HP:0031372	Cold paresis	6329	SCN4A	ORPHA:684
HP:0031374	Ankle weakness	7273	TTN	ORPHA:609
HP:0031374	Ankle weakness	5376	PMP22	OMIM:118300
HP:0031374	Ankle weakness	11155	LDB3	ORPHA:98912
HP:0031374	Ankle weakness	6329	SCN4A	ORPHA:98913
HP:0031374	Ankle weakness	1134	CHRNA1	ORPHA:98913
HP:0031374	Ankle weakness	4038	LRP4	ORPHA:98913
HP:0031374	Ankle weakness	1305	COL13A1	ORPHA:98913
HP:0031374	Ankle weakness	1140	CHRNB1	ORPHA:98913
HP:0031374	Ankle weakness	1144	CHRND	ORPHA:98913
HP:0031374	Ankle weakness	1145	CHRNE	ORPHA:98913
HP:0031374	Ankle weakness	4593	MUSK	ORPHA:98913
HP:0031374	Ankle weakness	5913	RAPSN	ORPHA:98913
HP:0031374	Ankle weakness	375790	AGRN	ORPHA:98913
HP:0031374	Ankle weakness	221264	AK9	ORPHA:98913
HP:0031374	Ankle weakness	285489	DOK7	ORPHA:98913
HP:0031374	Ankle weakness	9782	MATR3	ORPHA:600
HP:0031374	Ankle weakness	26580	BSCL2	ORPHA:100998
HP:0100471	Symphalangism affecting the middle phalanx of the 4th toe	9241	NOG	OMIM:186500
HP:0100472	Symphalangism affecting the middle phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0100474	Symphalangism affecting the proximal phalanx of the 4th toe	9241	NOG	OMIM:186500
HP:0100475	Symphalangism affecting the proximal phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0031377	Abnormal cell proliferation	57591	MRTFA	OMIM:618847
HP:0031377	Abnormal cell proliferation	1503	CTPS1	OMIM:615897
HP:0031377	Abnormal cell proliferation	3978	LIG1	OMIM:619774
HP:0031377	Abnormal cell proliferation	7040	TGFB1	OMIM:618213
HP:0031377	Abnormal cell proliferation	7456	WIPF1	OMIM:614493
HP:0031377	Abnormal cell proliferation	50619	DEF6	OMIM:619573
HP:0031377	Abnormal cell proliferation	5966	REL	OMIM:619652
HP:0031377	Abnormal cell proliferation	2137	EXTL3	ORPHA:508533
HP:0031377	Abnormal cell proliferation	3561	IL2RG	ORPHA:276
HP:0031377	Abnormal cell proliferation	6850	SYK	OMIM:619381
HP:0031377	Abnormal cell proliferation	3575	IL7R	ORPHA:169154
HP:0031377	Abnormal cell proliferation	4247	MGAT2	ORPHA:79329
HP:0031377	Abnormal cell proliferation	915	CD3D	ORPHA:169160
HP:0031377	Abnormal cell proliferation	916	CD3E	ORPHA:169160
HP:0031377	Abnormal cell proliferation	919	CD247	ORPHA:169160
HP:0031377	Abnormal cell proliferation	5994	RFXAP	ORPHA:572
HP:0031377	Abnormal cell proliferation	4261	CIITA	ORPHA:572
HP:0031377	Abnormal cell proliferation	5993	RFX5	ORPHA:572
HP:0031377	Abnormal cell proliferation	8625	RFXANK	ORPHA:572
HP:0031377	Abnormal cell proliferation	3551	IKBKB	OMIM:615592
HP:0031377	Abnormal cell proliferation	939	CD27	OMIM:615122
HP:0031377	Abnormal cell proliferation	5896	RAG1	ORPHA:331206
HP:0031377	Abnormal cell proliferation	5897	RAG2	ORPHA:331206
HP:0031377	Abnormal cell proliferation	4860	PNP	OMIM:613179
HP:0031377	Abnormal cell proliferation	10125	RASGRP1	OMIM:618534
HP:0031377	Abnormal cell proliferation	7535	ZAP70	ORPHA:911
HP:0031377	Abnormal cell proliferation	3718	JAK3	ORPHA:35078
HP:0031377	Abnormal cell proliferation	5293	PIK3CD	ORPHA:221139
HP:0031377	Abnormal cell proliferation	90417	KNSTRN	ORPHA:221139
HP:0031377	Abnormal cell proliferation	10892	MALT1	OMIM:615468
HP:0031377	Abnormal cell proliferation	5880	RAC2	OMIM:618986
HP:0031377	Abnormal cell proliferation	6772	STAT1	OMIM:614162
HP:0031377	Abnormal cell proliferation	3559	IL2RA	OMIM:606367
HP:0031377	Abnormal cell proliferation	55388	MCM10	OMIM:619313
HP:0031377	Abnormal cell proliferation	55719	SLF2	OMIM:620184
HP:0031377	Abnormal cell proliferation	1794	DOCK2	OMIM:616433
HP:0031377	Abnormal cell proliferation	5238	PGM3	ORPHA:443811
HP:0031377	Abnormal cell proliferation	84433	CARD11	OMIM:615206
HP:0031377	Abnormal cell proliferation	56160	NSMCE3	OMIM:617241
HP:0031377	Abnormal cell proliferation	3937	LCP2	OMIM:619374
HP:0031378	Abnormal lymphocyte proliferation	57591	MRTFA	OMIM:618847
HP:0031378	Abnormal lymphocyte proliferation	1503	CTPS1	OMIM:615897
HP:0031378	Abnormal lymphocyte proliferation	3978	LIG1	OMIM:619774
HP:0031378	Abnormal lymphocyte proliferation	7040	TGFB1	OMIM:618213
HP:0031378	Abnormal lymphocyte proliferation	7456	WIPF1	OMIM:614493
HP:0031378	Abnormal lymphocyte proliferation	50619	DEF6	OMIM:619573
HP:0031378	Abnormal lymphocyte proliferation	5966	REL	OMIM:619652
HP:0031378	Abnormal lymphocyte proliferation	2137	EXTL3	ORPHA:508533
HP:0031378	Abnormal lymphocyte proliferation	3561	IL2RG	ORPHA:276
HP:0031378	Abnormal lymphocyte proliferation	6850	SYK	OMIM:619381
HP:0031378	Abnormal lymphocyte proliferation	3575	IL7R	ORPHA:169154
HP:0031378	Abnormal lymphocyte proliferation	4247	MGAT2	ORPHA:79329
HP:0031378	Abnormal lymphocyte proliferation	915	CD3D	ORPHA:169160
HP:0031378	Abnormal lymphocyte proliferation	916	CD3E	ORPHA:169160
HP:0031378	Abnormal lymphocyte proliferation	919	CD247	ORPHA:169160
HP:0031378	Abnormal lymphocyte proliferation	5994	RFXAP	ORPHA:572
HP:0031378	Abnormal lymphocyte proliferation	4261	CIITA	ORPHA:572
HP:0031378	Abnormal lymphocyte proliferation	5993	RFX5	ORPHA:572
HP:0031378	Abnormal lymphocyte proliferation	8625	RFXANK	ORPHA:572
HP:0031378	Abnormal lymphocyte proliferation	3551	IKBKB	OMIM:615592
HP:0031378	Abnormal lymphocyte proliferation	939	CD27	OMIM:615122
HP:0031378	Abnormal lymphocyte proliferation	5896	RAG1	ORPHA:331206
HP:0031378	Abnormal lymphocyte proliferation	5897	RAG2	ORPHA:331206
HP:0031378	Abnormal lymphocyte proliferation	4860	PNP	OMIM:613179
HP:0031378	Abnormal lymphocyte proliferation	10125	RASGRP1	OMIM:618534
HP:0031378	Abnormal lymphocyte proliferation	7535	ZAP70	ORPHA:911
HP:0031378	Abnormal lymphocyte proliferation	3718	JAK3	ORPHA:35078
HP:0031378	Abnormal lymphocyte proliferation	5293	PIK3CD	ORPHA:221139
HP:0031378	Abnormal lymphocyte proliferation	90417	KNSTRN	ORPHA:221139
HP:0031378	Abnormal lymphocyte proliferation	10892	MALT1	OMIM:615468
HP:0031378	Abnormal lymphocyte proliferation	5880	RAC2	OMIM:618986
HP:0031378	Abnormal lymphocyte proliferation	6772	STAT1	OMIM:614162
HP:0031378	Abnormal lymphocyte proliferation	3559	IL2RA	OMIM:606367
HP:0031378	Abnormal lymphocyte proliferation	55388	MCM10	OMIM:619313
HP:0031378	Abnormal lymphocyte proliferation	55719	SLF2	OMIM:620184
HP:0031378	Abnormal lymphocyte proliferation	1794	DOCK2	OMIM:616433
HP:0031378	Abnormal lymphocyte proliferation	5238	PGM3	ORPHA:443811
HP:0031378	Abnormal lymphocyte proliferation	84433	CARD11	OMIM:615206
HP:0031378	Abnormal lymphocyte proliferation	56160	NSMCE3	OMIM:617241
HP:0031378	Abnormal lymphocyte proliferation	3937	LCP2	OMIM:619374
HP:0031379	Abnormal T cell proliferation	57591	MRTFA	OMIM:618847
HP:0031379	Abnormal T cell proliferation	1503	CTPS1	OMIM:615897
HP:0031379	Abnormal T cell proliferation	10125	RASGRP1	OMIM:618534
HP:0031379	Abnormal T cell proliferation	916	CD3E	OMIM:615615
HP:0031379	Abnormal T cell proliferation	3978	LIG1	OMIM:619774
HP:0031379	Abnormal T cell proliferation	7040	TGFB1	OMIM:618213
HP:0031379	Abnormal T cell proliferation	7456	WIPF1	OMIM:614493
HP:0031379	Abnormal T cell proliferation	5896	RAG1	ORPHA:331206
HP:0031379	Abnormal T cell proliferation	5897	RAG2	ORPHA:331206
HP:0031379	Abnormal T cell proliferation	1794	DOCK2	OMIM:616433
HP:0031379	Abnormal T cell proliferation	5238	PGM3	ORPHA:443811
HP:0031379	Abnormal T cell proliferation	84433	CARD11	OMIM:615206
HP:0031379	Abnormal T cell proliferation	56160	NSMCE3	OMIM:617241
HP:0031379	Abnormal T cell proliferation	3937	LCP2	OMIM:619374
HP:0031380	Abnormal B cell proliferation	5966	REL	OMIM:619652
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	2137	EXTL3	ORPHA:508533
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	3561	IL2RG	ORPHA:276
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	6850	SYK	OMIM:619381
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	3575	IL7R	ORPHA:169154
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4247	MGAT2	ORPHA:79329
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	915	CD3D	ORPHA:169160
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	916	CD3E	ORPHA:169160
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	919	CD247	ORPHA:169160
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5994	RFXAP	ORPHA:572
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4261	CIITA	ORPHA:572
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5993	RFX5	ORPHA:572
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	8625	RFXANK	ORPHA:572
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	3551	IKBKB	OMIM:615592
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	939	CD27	OMIM:615122
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5896	RAG1	ORPHA:331206
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5897	RAG2	ORPHA:331206
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4860	PNP	OMIM:613179
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	10125	RASGRP1	OMIM:618534
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	7535	ZAP70	ORPHA:911
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	3718	JAK3	ORPHA:35078
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5293	PIK3CD	ORPHA:221139
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	90417	KNSTRN	ORPHA:221139
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	10892	MALT1	OMIM:615468
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	5880	RAC2	OMIM:618986
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	6772	STAT1	OMIM:614162
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	3559	IL2RA	OMIM:606367
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	55388	MCM10	OMIM:619313
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	55719	SLF2	OMIM:620184
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	10892	MALT1	OMIM:615468
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5880	RAC2	OMIM:618986
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	6772	STAT1	OMIM:614162
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	3718	JAK3	OMIM:600802
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	3559	IL2RA	OMIM:606367
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	55388	MCM10	OMIM:619313
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5293	PIK3CD	ORPHA:221139
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	90417	KNSTRN	ORPHA:221139
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	55719	SLF2	OMIM:620184
HP:0031383	Abnormal lymphocyte surface marker expression	7454	WAS	OMIM:301000
HP:0031385	Megakaryocyte nucleus hypolobulation	2624	GATA2	OMIM:614172
HP:0031385	Megakaryocyte nucleus hypolobulation	6208	RPS14	OMIM:153550
HP:0031385	Megakaryocyte nucleus hypolobulation	6208	RPS14	ORPHA:86841
HP:0100481	Proximal/middle symphalangism of 4th toe	9241	NOG	OMIM:186500
HP:0100482	Proximal/middle symphalangism of 5th toe	9241	NOG	OMIM:186500
HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	51776	MAP3K20	ORPHA:488232
HP:0031386	Increased micromegakaryocyte count	3717	JAK2	OMIM:614521
HP:0031389	Abnormal MHC II surface expression	5994	RFXAP	ORPHA:572
HP:0031389	Abnormal MHC II surface expression	4261	CIITA	ORPHA:572
HP:0031389	Abnormal MHC II surface expression	5993	RFX5	ORPHA:572
HP:0031389	Abnormal MHC II surface expression	8625	RFXANK	ORPHA:572
HP:0031390	Reduced MHC II surface expression	5994	RFXAP	ORPHA:572
HP:0031390	Reduced MHC II surface expression	4261	CIITA	ORPHA:572
HP:0031390	Reduced MHC II surface expression	5993	RFX5	ORPHA:572
HP:0031390	Reduced MHC II surface expression	8625	RFXANK	ORPHA:572
HP:0031392	Abnormal proportion of CD4-positive T cells	2137	EXTL3	ORPHA:508533
HP:0031392	Abnormal proportion of CD4-positive T cells	3561	IL2RG	ORPHA:276
HP:0031392	Abnormal proportion of CD4-positive T cells	3561	IL2RG	OMIM:312863
HP:0031392	Abnormal proportion of CD4-positive T cells	57724	EPG5	OMIM:242840
HP:0031392	Abnormal proportion of CD4-positive T cells	5994	RFXAP	ORPHA:572
HP:0031392	Abnormal proportion of CD4-positive T cells	4261	CIITA	ORPHA:572
HP:0031392	Abnormal proportion of CD4-positive T cells	5993	RFX5	ORPHA:572
HP:0031392	Abnormal proportion of CD4-positive T cells	8625	RFXANK	ORPHA:572
HP:0031392	Abnormal proportion of CD4-positive T cells	7454	WAS	OMIM:301000
HP:0031392	Abnormal proportion of CD4-positive T cells	10043	TOM1	OMIM:619510
HP:0031392	Abnormal proportion of CD4-positive T cells	3702	ITK	OMIM:613011
HP:0031392	Abnormal proportion of CD4-positive T cells	10625	IVNS1ABP	OMIM:618969
HP:0031392	Abnormal proportion of CD4-positive T cells	5238	PGM3	ORPHA:443811
HP:0031392	Abnormal proportion of CD4-positive T cells	3551	IKBKB	OMIM:618204
HP:0031392	Abnormal proportion of CD4-positive T cells	3932	LCK	OMIM:615758
HP:0031392	Abnormal proportion of CD4-positive T cells	9094	UNC119	OMIM:615518
HP:0031392	Abnormal proportion of CD4-positive T cells	5293	PIK3CD	ORPHA:221139
HP:0031392	Abnormal proportion of CD4-positive T cells	90417	KNSTRN	ORPHA:221139
HP:0031392	Abnormal proportion of CD4-positive T cells	4609	MYC	ORPHA:543
HP:0031392	Abnormal proportion of CD4-positive T cells	3575	IL7R	ORPHA:169154
HP:0031392	Abnormal proportion of CD4-positive T cells	81704	DOCK8	OMIM:243700
HP:0031392	Abnormal proportion of CD4-positive T cells	56160	NSMCE3	OMIM:617241
HP:0031392	Abnormal proportion of CD4-positive T cells	472	ATM	OMIM:208900
HP:0031392	Abnormal proportion of CD4-positive T cells	3953	LEPR	ORPHA:179494
HP:0031392	Abnormal proportion of CD4-positive T cells	3952	LEP	ORPHA:66628
HP:0031392	Abnormal proportion of CD4-positive T cells	3115	HLA-DPB1	ORPHA:133
HP:0031392	Abnormal proportion of CD4-positive T cells	64170	CARD9	OMIM:212050
HP:0031392	Abnormal proportion of CD4-positive T cells	355	FAS	ORPHA:3261
HP:0031392	Abnormal proportion of CD4-positive T cells	356	FASLG	ORPHA:3261
HP:0031392	Abnormal proportion of CD4-positive T cells	5580	PRKCD	ORPHA:3261
HP:0031392	Abnormal proportion of CD4-positive T cells	843	CASP10	ORPHA:3261
HP:0031392	Abnormal proportion of CD4-positive T cells	27040	LAT	OMIM:617514
HP:0031392	Abnormal proportion of CD4-positive T cells	10159	ATP6AP2	OMIM:301045
HP:0031392	Abnormal proportion of CD4-positive T cells	641	BLM	ORPHA:125
HP:0031392	Abnormal proportion of CD4-positive T cells	920	CD4	OMIM:619238
HP:0031392	Abnormal proportion of CD4-positive T cells	10125	RASGRP1	OMIM:618534
HP:0031392	Abnormal proportion of CD4-positive T cells	84061	MAGT1	OMIM:300853
HP:0031392	Abnormal proportion of CD4-positive T cells	3937	LCP2	OMIM:619374
HP:0031392	Abnormal proportion of CD4-positive T cells	50619	DEF6	OMIM:619573
HP:0031392	Abnormal proportion of CD4-positive T cells	90268	OTULIN	OMIM:617099
HP:0031392	Abnormal proportion of CD4-positive T cells	50485	SMARCAL1	ORPHA:1830
HP:0031392	Abnormal proportion of CD4-positive T cells	5295	PIK3R1	OMIM:616005
HP:0031392	Abnormal proportion of CD4-positive T cells	64919	BCL11B	OMIM:617237
HP:0031392	Abnormal proportion of CD4-positive T cells	54440	SASH3	OMIM:301082
HP:0031393	Abnormal proportion of CD8-positive T cells	2137	EXTL3	ORPHA:508533
HP:0031393	Abnormal proportion of CD8-positive T cells	3575	IL7R	ORPHA:169154
HP:0031393	Abnormal proportion of CD8-positive T cells	7454	WAS	OMIM:301000
HP:0031393	Abnormal proportion of CD8-positive T cells	56160	NSMCE3	OMIM:617241
HP:0031393	Abnormal proportion of CD8-positive T cells	7456	WIPF1	OMIM:614493
HP:0031393	Abnormal proportion of CD8-positive T cells	3551	IKBKB	OMIM:618204
HP:0031393	Abnormal proportion of CD8-positive T cells	5294	PIK3CG	OMIM:619802
HP:0031393	Abnormal proportion of CD8-positive T cells	917	CD3G	OMIM:615607
HP:0031393	Abnormal proportion of CD8-positive T cells	3561	IL2RG	OMIM:312863
HP:0031393	Abnormal proportion of CD8-positive T cells	7535	ZAP70	OMIM:269840
HP:0031393	Abnormal proportion of CD8-positive T cells	7535	ZAP70	ORPHA:911
HP:0031393	Abnormal proportion of CD8-positive T cells	925	CD8A	OMIM:608957
HP:0031393	Abnormal proportion of CD8-positive T cells	64170	CARD9	OMIM:212050
HP:0031393	Abnormal proportion of CD8-positive T cells	641	BLM	ORPHA:125
HP:0031393	Abnormal proportion of CD8-positive T cells	5238	PGM3	ORPHA:443811
HP:0031393	Abnormal proportion of CD8-positive T cells	355	FAS	ORPHA:3261
HP:0031393	Abnormal proportion of CD8-positive T cells	356	FASLG	ORPHA:3261
HP:0031393	Abnormal proportion of CD8-positive T cells	5580	PRKCD	ORPHA:3261
HP:0031393	Abnormal proportion of CD8-positive T cells	843	CASP10	ORPHA:3261
HP:0031393	Abnormal proportion of CD8-positive T cells	10125	RASGRP1	ORPHA:3261
HP:0031393	Abnormal proportion of CD8-positive T cells	6929	TCF3	OMIM:619824
HP:0031393	Abnormal proportion of CD8-positive T cells	54440	SASH3	OMIM:301082
HP:0031394	Abnormal CD4:CD8 ratio	5238	PGM3	ORPHA:443811
HP:0031394	Abnormal CD4:CD8 ratio	10125	RASGRP1	OMIM:618534
HP:0031394	Abnormal CD4:CD8 ratio	5994	RFXAP	ORPHA:572
HP:0031394	Abnormal CD4:CD8 ratio	4261	CIITA	ORPHA:572
HP:0031394	Abnormal CD4:CD8 ratio	5993	RFX5	ORPHA:572
HP:0031394	Abnormal CD4:CD8 ratio	8625	RFXANK	ORPHA:572
HP:0031394	Abnormal CD4:CD8 ratio	9948	WDR1	OMIM:150550
HP:0031394	Abnormal CD4:CD8 ratio	7535	ZAP70	OMIM:617006
HP:0031394	Abnormal CD4:CD8 ratio	51371	POMP	OMIM:618048
HP:0031394	Abnormal CD4:CD8 ratio	2624	GATA2	OMIM:614038
HP:0031394	Abnormal CD4:CD8 ratio	1503	CTPS1	OMIM:615897
HP:0031394	Abnormal CD4:CD8 ratio	841	CASP8	OMIM:607271
HP:0031394	Abnormal CD4:CD8 ratio	7454	WAS	OMIM:300299
HP:0031394	Abnormal CD4:CD8 ratio	84061	MAGT1	OMIM:300853
HP:0031394	Abnormal CD4:CD8 ratio	3559	IL2RA	OMIM:606367
HP:0031394	Abnormal CD4:CD8 ratio	9094	UNC119	OMIM:615518
HP:0031394	Abnormal CD4:CD8 ratio	8546	AP3B1	OMIM:608233
HP:0031394	Abnormal CD4:CD8 ratio	50619	DEF6	OMIM:619573
HP:0031394	Abnormal CD4:CD8 ratio	3560	IL2RB	OMIM:618495
HP:0008366	Foot joint contracture	6445	SGCG	ORPHA:353
HP:0008366	Foot joint contracture	23299	BICD2	OMIM:615290
HP:0008366	Foot joint contracture	55906	ZC4H2	OMIM:301041
HP:0008366	Foot joint contracture	2273	FHL1	OMIM:300696
HP:0008366	Foot joint contracture	2273	FHL1	OMIM:300695
HP:0008366	Foot joint contracture	2273	FHL1	ORPHA:98863
HP:0008366	Foot joint contracture	7273	TTN	OMIM:603689
HP:0008366	Foot joint contracture	79147	FKRP	OMIM:606612
HP:0008366	Foot joint contracture	79147	FKRP	ORPHA:370980
HP:0008366	Foot joint contracture	79147	FKRP	OMIM:607155
HP:0008366	Foot joint contracture	51651	PTRH2	OMIM:616263
HP:0008366	Foot joint contracture	51651	PTRH2	ORPHA:456312
HP:0008366	Foot joint contracture	54888	NSUN2	OMIM:611091
HP:0008366	Foot joint contracture	3094	HINT1	ORPHA:324442
HP:0008366	Foot joint contracture	339855	KY	OMIM:617114
HP:0008366	Foot joint contracture	23516	SLC39A14	OMIM:617013
HP:0008366	Foot joint contracture	4010	LMX1B	ORPHA:2614
HP:0008366	Foot joint contracture	79912	PYROXD1	OMIM:617258
HP:0008366	Foot joint contracture	1756	DMD	OMIM:310200
HP:0008366	Foot joint contracture	291	SLC25A4	OMIM:615418
HP:0008366	Foot joint contracture	2010	EMD	OMIM:310300
HP:0008366	Foot joint contracture	2010	EMD	ORPHA:98863
HP:0008366	Foot joint contracture	57679	ALS2	OMIM:607225
HP:0008366	Foot joint contracture	6442	SGCA	ORPHA:62
HP:0008366	Foot joint contracture	4556	MT-TE	ORPHA:2596
HP:0008366	Foot joint contracture	9990	SLC12A6	OMIM:620068
HP:0008366	Foot joint contracture	1292	COL6A2	OMIM:255600
HP:0008366	Foot joint contracture	1292	COL6A2	ORPHA:610
HP:0008366	Foot joint contracture	9499	MYOT	OMIM:609200
HP:0008366	Foot joint contracture	10060	ABCC9	OMIM:619719
HP:0008366	Foot joint contracture	4000	LMNA	OMIM:181350
HP:0008366	Foot joint contracture	4000	LMNA	OMIM:613205
HP:0008366	Foot joint contracture	4000	LMNA	ORPHA:98855
HP:0008366	Foot joint contracture	4000	LMNA	ORPHA:98853
HP:0008366	Foot joint contracture	5339	PLEC	ORPHA:254361
HP:0008366	Foot joint contracture	3714	JAG2	OMIM:619566
HP:0008366	Foot joint contracture	113179	ADAT3	ORPHA:363528
HP:0008366	Foot joint contracture	51506	UFC1	OMIM:618076
HP:0008366	Foot joint contracture	2705	GJB1	OMIM:302800
HP:0008366	Foot joint contracture	58	ACTA1	OMIM:616852
HP:0008366	Foot joint contracture	26090	ABHD12	OMIM:612674
HP:0008366	Foot joint contracture	2218	FKTN	ORPHA:370980
HP:0008366	Foot joint contracture	729920	CRPPA	ORPHA:370980
HP:0008366	Foot joint contracture	10585	POMT1	ORPHA:370980
HP:0008366	Foot joint contracture	3265	HRAS	OMIM:218040
HP:0008366	Foot joint contracture	55768	NGLY1	ORPHA:404454
HP:0008366	Foot joint contracture	2799	GNS	OMIM:252940
HP:0008366	Foot joint contracture	4976	OPA1	OMIM:210000
HP:0008366	Foot joint contracture	9215	LARGE1	OMIM:608840
HP:0008366	Foot joint contracture	1303	COL12A1	ORPHA:610
HP:0008366	Foot joint contracture	1291	COL6A1	ORPHA:610
HP:0008366	Foot joint contracture	1293	COL6A3	ORPHA:610
HP:0008366	Foot joint contracture	79188	TMEM43	ORPHA:98853
HP:0008366	Foot joint contracture	23345	SYNE1	ORPHA:98853
HP:0008366	Foot joint contracture	23224	SYNE2	ORPHA:98853
HP:0008366	Foot joint contracture	1146	CHRNG	OMIM:265000
HP:0008366	Foot joint contracture	2316	FLNA	OMIM:300244
HP:0008366	Foot joint contracture	1832	DSP	ORPHA:158687
HP:0008366	Foot joint contracture	3728	JUP	ORPHA:158687
HP:0008366	Foot joint contracture	91179	SCARF2	OMIM:600920
HP:0008366	Foot joint contracture	63895	PIEZO2	OMIM:114300
HP:0008366	Foot joint contracture	29895	MYL11	OMIM:619110
HP:0008366	Foot joint contracture	2737	GLI3	OMIM:175700
HP:0008366	Foot joint contracture	2261	FGFR3	OMIM:610474
HP:0008366	Foot joint contracture	10216	PRG4	ORPHA:2848
HP:0008366	Foot joint contracture	84295	PHF6	ORPHA:127
HP:0008366	Foot joint contracture	4313	MMP2	OMIM:259600
HP:0008366	Foot joint contracture	139285	AMER1	OMIM:300373
HP:0008366	Foot joint contracture	11160	ERLIN2	ORPHA:209951
HP:0008366	Foot joint contracture	55315	SLC29A3	OMIM:602782
HP:0008366	Foot joint contracture	2200	FBN1	OMIM:608328
HP:0008366	Foot joint contracture	23556	PIGN	ORPHA:280633
HP:0008366	Foot joint contracture	22978	NT5C2	ORPHA:320396
HP:0008366	Foot joint contracture	64127	NOD2	OMIM:186580
HP:0008366	Foot joint contracture	4621	MYH3	OMIM:193700
HP:0008366	Foot joint contracture	23102	TBC1D2B	OMIM:619323
HP:0008366	Foot joint contracture	3977	LIFR	OMIM:601559
HP:0008366	Foot joint contracture	7043	TGFB3	OMIM:615582
HP:0008366	Foot joint contracture	1984	EIF5A	OMIM:619376
HP:0008366	Foot joint contracture	5696	PSMB8	OMIM:256040
HP:0008366	Foot joint contracture	3339	HSPG2	OMIM:255800
HP:0008366	Foot joint contracture	3339	HSPG2	ORPHA:800
HP:0008366	Foot joint contracture	2067	ERCC1	OMIM:610758
HP:0008366	Foot joint contracture	25914	RTTN	ORPHA:468631
HP:0008366	Foot joint contracture	1859	DYRK1A	ORPHA:464311
HP:0008366	Foot joint contracture	64324	NSD1	ORPHA:821
HP:0008366	Foot joint contracture	29072	SETD2	ORPHA:821
HP:0008366	Foot joint contracture	10297	APC2	ORPHA:821
HP:0008366	Foot joint contracture	1605	DAG1	OMIM:613818
HP:0008366	Foot joint contracture	1605	DAG1	ORPHA:280333
HP:0008366	Foot joint contracture	6840	SVIL	OMIM:619040
HP:0008366	Foot joint contracture	825	CAPN3	ORPHA:267
HP:0008366	Foot joint contracture	6134	RPL10	ORPHA:435938
HP:0008366	Foot joint contracture	55958	KLHL9	ORPHA:399081
HP:0008366	Foot joint contracture	6261	RYR1	OMIM:117000
HP:0008366	Foot joint contracture	83636	C19orf12	OMIM:615043
HP:0008366	Foot joint contracture	84876	ORAI1	OMIM:615883
HP:0008366	Foot joint contracture	163175	LGI4	OMIM:617468
HP:0008366	Foot joint contracture	6509	SLC1A4	OMIM:616657
HP:0008366	Foot joint contracture	60681	FKBP10	OMIM:259450
HP:0008366	Foot joint contracture	4773	NFATC2	OMIM:620232
HP:0008366	Foot joint contracture	87178	PNPT1	ORPHA:319514
HP:0008366	Foot joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0008366	Foot joint contracture	8813	DPM1	OMIM:608799
HP:0008366	Foot joint contracture	210	ALAD	ORPHA:100924
HP:0008366	Foot joint contracture	513	ATP5F1D	OMIM:618120
HP:0008366	Foot joint contracture	7317	UBA1	ORPHA:1145
HP:0008366	Foot joint contracture	55681	SCYL2	ORPHA:1143
HP:0008366	Foot joint contracture	84570	COL25A1	ORPHA:1143
HP:0008366	Foot joint contracture	57222	ERGIC1	ORPHA:1143
HP:0008366	Foot joint contracture	80208	SPG11	OMIM:616668
HP:0008366	Foot joint contracture	57731	SPTBN4	OMIM:617519
HP:0008366	Foot joint contracture	157570	ESCO2	OMIM:268300
HP:0008366	Foot joint contracture	29968	PSAT1	ORPHA:284417
HP:0008366	Foot joint contracture	57190	SELENON	ORPHA:2020
HP:0008366	Foot joint contracture	4633	MYL2	ORPHA:2020
HP:0008366	Foot joint contracture	3679	ITGA7	ORPHA:2020
HP:0008366	Foot joint contracture	7169	TPM2	ORPHA:2020
HP:0008366	Foot joint contracture	9200	HACD1	ORPHA:2020
HP:0008366	Foot joint contracture	7170	TPM3	ORPHA:2020
HP:0008366	Foot joint contracture	51776	MAP3K20	ORPHA:2020
HP:0008366	Foot joint contracture	51776	MAP3K20	OMIM:617760
HP:0008366	Foot joint contracture	5297	PI4KA	OMIM:619621
HP:0008366	Foot joint contracture	497661	C18orf32	OMIM:619985
HP:0008366	Foot joint contracture	127833	SYT2	OMIM:619461
HP:0008366	Foot joint contracture	4921	DDR2	OMIM:618175
HP:0008366	Foot joint contracture	4703	NEB	ORPHA:399103
HP:0008366	Foot joint contracture	7407	VARS1	OMIM:617802
HP:0008366	Foot joint contracture	9896	FIG4	OMIM:611228
HP:0008366	Foot joint contracture	203859	ANO5	ORPHA:206549
HP:0008366	Foot joint contracture	65055	REEP1	OMIM:620011
HP:0008366	Foot joint contracture	51305	KCNK9	ORPHA:166108
HP:0008366	Foot joint contracture	4604	MYBPC1	OMIM:614335
HP:0008366	Foot joint contracture	4312	MMP1	ORPHA:79408
HP:0008366	Foot joint contracture	1294	COL7A1	ORPHA:79408
HP:0008366	Foot joint contracture	2972	BRF1	ORPHA:444072
HP:0008366	Foot joint contracture	23259	DDHD2	ORPHA:320380
HP:0008366	Foot joint contracture	54828	BCAS3	OMIM:619641
HP:0008366	Foot joint contracture	1235	CCR6	ORPHA:220402
HP:0008366	Foot joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0008366	Foot joint contracture	1490	CCN2	ORPHA:220402
HP:0008366	Foot joint contracture	3663	IRF5	ORPHA:220402
HP:0008366	Foot joint contracture	857	CAV1	ORPHA:220402
HP:0008366	Foot joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0008366	Foot joint contracture	1161	ERCC8	ORPHA:90321
HP:0008366	Foot joint contracture	2072	ERCC4	ORPHA:90321
HP:0008366	Foot joint contracture	2074	ERCC6	ORPHA:90321
HP:0008366	Foot joint contracture	54880	BCOR	ORPHA:2712
HP:0008366	Foot joint contracture	10526	IPO8	OMIM:619472
HP:0008366	Foot joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0100493	Hypoammonemia	4952	OCRL	ORPHA:534
HP:0100494	Abnormal mast cell morphology	1130	LYST	ORPHA:167
HP:0100494	Abnormal mast cell morphology	171023	ASXL1	ORPHA:98850
HP:0100494	Abnormal mast cell morphology	54790	TET2	ORPHA:98850
HP:0100494	Abnormal mast cell morphology	867	CBL	ORPHA:98850
HP:0100494	Abnormal mast cell morphology	861	RUNX1	ORPHA:98850
HP:0100494	Abnormal mast cell morphology	6427	SRSF2	ORPHA:98850
HP:0100494	Abnormal mast cell morphology	340665	CYP26C1	ORPHA:398189
HP:0100494	Abnormal mast cell morphology	3815	KIT	ORPHA:98849
HP:0100495	Mastocytosis	3815	KIT	ORPHA:280794
HP:0100495	Mastocytosis	3815	KIT	ORPHA:280785
HP:0100495	Mastocytosis	3815	KIT	OMIM:154800
HP:0100498	Deviation of toes	7291	TWIST1	ORPHA:794
HP:0100498	Deviation of toes	7291	TWIST1	OMIM:101400
HP:0100498	Deviation of toes	7291	TWIST1	OMIM:180750
HP:0100498	Deviation of toes	2263	FGFR2	ORPHA:794
HP:0100498	Deviation of toes	2263	FGFR2	OMIM:101400
HP:0100498	Deviation of toes	2261	FGFR3	ORPHA:794
HP:0100498	Deviation of toes	7528	YY1	ORPHA:506358
HP:0100498	Deviation of toes	7528	YY1	OMIM:617557
HP:0100498	Deviation of toes	10262	SF3B4	OMIM:154400
HP:0100498	Deviation of toes	8294	H4C9	OMIM:619951
HP:0100498	Deviation of toes	3590	IL11RA	OMIM:614188
HP:0100498	Deviation of toes	1859	DYRK1A	ORPHA:268261
HP:0100498	Deviation of toes	1859	DYRK1A	OMIM:614104
HP:0100498	Deviation of toes	25923	ATL3	OMIM:615632
HP:0100498	Deviation of toes	6938	TCF12	OMIM:615314
HP:0100498	Deviation of toes	8239	USP9X	ORPHA:480880
HP:0100498	Deviation of toes	6804	STX1A	ORPHA:904
HP:0100498	Deviation of toes	7461	CLIP2	ORPHA:904
HP:0100498	Deviation of toes	84277	DNAJC30	ORPHA:904
HP:0100498	Deviation of toes	8468	FKBP6	ORPHA:904
HP:0100498	Deviation of toes	5982	RFC2	ORPHA:904
HP:0100498	Deviation of toes	2969	GTF2I	ORPHA:904
HP:0100498	Deviation of toes	3984	LIMK1	ORPHA:904
HP:0100498	Deviation of toes	9569	GTF2IRD1	ORPHA:904
HP:0100498	Deviation of toes	155382	VPS37D	ORPHA:904
HP:0100498	Deviation of toes	155368	METTL27	ORPHA:904
HP:0100498	Deviation of toes	114049	BUD23	ORPHA:904
HP:0100498	Deviation of toes	7458	EIF4H	ORPHA:904
HP:0100498	Deviation of toes	84163	GTF2IRD2	ORPHA:904
HP:0100498	Deviation of toes	9275	BCL7B	ORPHA:904
HP:0100498	Deviation of toes	26608	TBL2	ORPHA:904
HP:0100498	Deviation of toes	653361	NCF1	ORPHA:904
HP:0100498	Deviation of toes	135886	TMEM270	ORPHA:904
HP:0100498	Deviation of toes	51085	MLXIPL	ORPHA:904
HP:0100498	Deviation of toes	51085	MLXIPL	OMIM:194050
HP:0100498	Deviation of toes	9031	BAZ1B	ORPHA:904
HP:0100498	Deviation of toes	2006	ELN	ORPHA:904
HP:0100498	Deviation of toes	2006	ELN	OMIM:194050
HP:0100498	Deviation of toes	57122	NUP107	OMIM:618348
HP:0100498	Deviation of toes	10283	CWC27	ORPHA:166035
HP:0100498	Deviation of toes	5728	PTEN	ORPHA:744
HP:0100498	Deviation of toes	207	AKT1	ORPHA:744
HP:0100498	Deviation of toes	55027	HEATR3	OMIM:620072
HP:0100498	Deviation of toes	9839	ZEB2	ORPHA:261537
HP:0100498	Deviation of toes	9839	ZEB2	ORPHA:261552
HP:0100498	Deviation of toes	79759	ZNF668	OMIM:620194
HP:0100498	Deviation of toes	55315	SLC29A3	OMIM:602782
HP:0100498	Deviation of toes	55315	SLC29A3	ORPHA:168569
HP:0100498	Deviation of toes	2077	ERF	OMIM:617180
HP:0100498	Deviation of toes	6567	SLC16A2	OMIM:300523
HP:0100498	Deviation of toes	91179	SCARF2	OMIM:600920
HP:0100498	Deviation of toes	4841	NONO	OMIM:300967
HP:0100498	Deviation of toes	4841	NONO	ORPHA:466791
HP:0100498	Deviation of toes	1278	COL1A2	ORPHA:230851
HP:0100498	Deviation of toes	1278	COL1A2	OMIM:617821
HP:0100498	Deviation of toes	56098	PCDHGC4	OMIM:619880
HP:0100498	Deviation of toes	83737	ITCH	OMIM:613385
HP:0100498	Deviation of toes	4621	MYH3	OMIM:618436
HP:0100498	Deviation of toes	6662	SOX9	OMIM:114290
HP:0100498	Deviation of toes	55780	ERMARD	ORPHA:75857
HP:0100498	Deviation of toes	2273	FHL1	OMIM:300280
HP:0100498	Deviation of toes	11107	PRDM5	ORPHA:90354
HP:0100498	Deviation of toes	84627	ZNF469	ORPHA:90354
HP:0100498	Deviation of toes	5932	RBBP8	OMIM:251255
HP:0100498	Deviation of toes	90	ACVR1	ORPHA:337
HP:0100498	Deviation of toes	90	ACVR1	OMIM:135100
HP:0100498	Deviation of toes	126792	B3GALT6	OMIM:271640
HP:0100498	Deviation of toes	126792	B3GALT6	ORPHA:536467
HP:0100498	Deviation of toes	8626	TP63	OMIM:603543
HP:0100498	Deviation of toes	4784	NFIX	OMIM:602535
HP:0100498	Deviation of toes	2629	GBA1	ORPHA:2072
HP:0100498	Deviation of toes	165	AEBP1	OMIM:618000
HP:0100498	Deviation of toes	165	AEBP1	ORPHA:536532
HP:0100498	Deviation of toes	7874	USP7	OMIM:616863
HP:0100498	Deviation of toes	9469	CHST3	OMIM:245600
HP:0100498	Deviation of toes	26229	B3GAT3	OMIM:245600
HP:0100498	Deviation of toes	6595	SMARCA2	OMIM:601358
HP:0100498	Deviation of toes	6792	CDKL5	ORPHA:505652
HP:0100498	Deviation of toes	1277	COL1A1	OMIM:130060
HP:0100498	Deviation of toes	23102	TBC1D2B	ORPHA:397973
HP:0100498	Deviation of toes	80185	TTI2	OMIM:615541
HP:0100498	Deviation of toes	57178	ZMIZ1	OMIM:618659
HP:0100498	Deviation of toes	6736	SRY	ORPHA:1772
HP:0100498	Deviation of toes	3239	HOXD13	ORPHA:93409
HP:0100498	Deviation of toes	526	ATP6V1B2	ORPHA:3473
HP:0100498	Deviation of toes	3756	KCNH1	ORPHA:3473
HP:0100498	Deviation of toes	3782	KCNN3	ORPHA:3473
HP:0100498	Deviation of toes	5696	PSMB8	OMIM:256040
HP:0100498	Deviation of toes	2316	FLNA	OMIM:300244
HP:0100498	Deviation of toes	89970	RSPRY1	ORPHA:457395
HP:0100498	Deviation of toes	23314	SATB2	ORPHA:251019
HP:0100498	Deviation of toes	2146	EZH2	OMIM:277590
HP:0100498	Deviation of toes	490	ATP2B1	OMIM:619910
HP:0100498	Deviation of toes	64131	XYLT1	OMIM:615777
HP:0100498	Deviation of toes	6299	SALL1	ORPHA:857
HP:0100498	Deviation of toes	51339	DACT1	ORPHA:857
HP:0100498	Deviation of toes	2313	FLI1	ORPHA:2308
HP:0100498	Deviation of toes	10195	ALG3	OMIM:601110
HP:0100498	Deviation of toes	5283	PIGH	OMIM:618010
HP:0100498	Deviation of toes	6049	RNF6	ORPHA:99977
HP:0100498	Deviation of toes	7048	TGFBR2	ORPHA:99977
HP:0100498	Deviation of toes	51741	WWOX	ORPHA:99977
HP:0100498	Deviation of toes	9940	DLEC1	ORPHA:99977
HP:0100498	Deviation of toes	150468	CKAP2L	ORPHA:3255
HP:0100498	Deviation of toes	3759	KCNJ2	OMIM:170390
HP:0100498	Deviation of toes	3759	KCNJ2	ORPHA:37553
HP:0100498	Deviation of toes	3762	KCNJ5	ORPHA:37553
HP:0100498	Deviation of toes	10236	HNRNPR	OMIM:620073
HP:0100498	Deviation of toes	2254	FGF9	OMIM:612961
HP:0100498	Deviation of toes	2260	FGFR1	OMIM:123150
HP:0100498	Deviation of toes	2260	FGFR1	ORPHA:93258
HP:0100498	Deviation of toes	3209	HOXA13	OMIM:140000
HP:0100498	Deviation of toes	3209	HOXA13	ORPHA:2438
HP:0100498	Deviation of toes	50515	CHST11	OMIM:618167
HP:0100498	Deviation of toes	658	BMPR1B	OMIM:112600
HP:0100498	Deviation of toes	8200	GDF5	OMIM:112600
HP:0100498	Deviation of toes	650	BMP2	OMIM:112600
HP:0100498	Deviation of toes	1387	CREBBP	ORPHA:353277
HP:0100498	Deviation of toes	7994	KAT6A	OMIM:616268
HP:0100498	Deviation of toes	2033	EP300	ORPHA:353284
HP:0100498	Deviation of toes	26005	C2CD3	ORPHA:434179
HP:0100498	Deviation of toes	93587	TRMT10A	ORPHA:391408
HP:0100498	Deviation of toes	84919	PPP1R15B	ORPHA:391408
HP:0100498	Deviation of toes	9241	NOG	OMIM:186500
HP:0100498	Deviation of toes	25782	RAB3GAP2	OMIM:614225
HP:0100498	Deviation of toes	118924	FRA10AC1	OMIM:620113
HP:0100498	Deviation of toes	84342	COG8	OMIM:611182
HP:0100498	Deviation of toes	341208	HEPHL1	OMIM:261990
HP:0100498	Deviation of toes	22856	CHSY1	ORPHA:363417
HP:0100498	Deviation of toes	9775	EIF4A3	OMIM:268305
HP:0100499	Tibial deviation of toes	9775	EIF4A3	OMIM:268305
HP:0031396	Abnormal proportion of naive T cells	3561	IL2RG	ORPHA:276
HP:0031396	Abnormal proportion of naive T cells	6850	SYK	OMIM:619381
HP:0031396	Abnormal proportion of naive T cells	50485	SMARCAL1	ORPHA:1830
HP:0031396	Abnormal proportion of naive T cells	5295	PIK3R1	OMIM:616005
HP:0031396	Abnormal proportion of naive T cells	64919	BCL11B	OMIM:617237
HP:0031396	Abnormal proportion of naive T cells	54440	SASH3	OMIM:301082
HP:0031397	Decreased proportion of naive T cells	3561	IL2RG	ORPHA:276
HP:0031397	Decreased proportion of naive T cells	6850	SYK	OMIM:619381
HP:0031397	Decreased proportion of naive T cells	50485	SMARCAL1	ORPHA:1830
HP:0031397	Decreased proportion of naive T cells	5295	PIK3R1	OMIM:616005
HP:0031397	Decreased proportion of naive T cells	54440	SASH3	OMIM:301082
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	843	CASP10	OMIM:603909
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	843	CASP10	ORPHA:3261
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	355	FAS	ORPHA:3261
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	355	FAS	OMIM:601859
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	356	FASLG	ORPHA:3261
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	356	FASLG	OMIM:601859
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5580	PRKCD	ORPHA:3261
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	10125	RASGRP1	ORPHA:3261
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5294	PIK3CG	OMIM:619802
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	50943	FOXP3	ORPHA:37042
HP:0001627	Abnormal heart morphology	10682	EBP	ORPHA:401973
HP:0001627	Abnormal heart morphology	23592	LEMD3	ORPHA:166119
HP:0001627	Abnormal heart morphology	23394	ADNP	OMIM:615873
HP:0001627	Abnormal heart morphology	7355	SLC35A2	ORPHA:356961
HP:0001627	Abnormal heart morphology	80144	FRAS1	OMIM:219000
HP:0001627	Abnormal heart morphology	4758	NEU1	ORPHA:93399
HP:0001627	Abnormal heart morphology	4758	NEU1	ORPHA:93400
HP:0001627	Abnormal heart morphology	6662	SOX9	OMIM:114290
HP:0001627	Abnormal heart morphology	3767	KCNJ11	ORPHA:99885
HP:0001627	Abnormal heart morphology	3767	KCNJ11	ORPHA:99886
HP:0001627	Abnormal heart morphology	6774	STAT3	ORPHA:99885
HP:0001627	Abnormal heart morphology	2645	GCK	ORPHA:99885
HP:0001627	Abnormal heart morphology	3651	PDX1	ORPHA:99885
HP:0001627	Abnormal heart morphology	6833	ABCC8	ORPHA:99885
HP:0001627	Abnormal heart morphology	6833	ABCC8	ORPHA:99886
HP:0001627	Abnormal heart morphology	3630	INS	ORPHA:99885
HP:0001627	Abnormal heart morphology	2067	ERCC1	OMIM:610758
HP:0001627	Abnormal heart morphology	346171	ZFP57	ORPHA:99886
HP:0001627	Abnormal heart morphology	79631	EFL1	ORPHA:811
HP:0001627	Abnormal heart morphology	55650	PIGV	OMIM:239300
HP:0001627	Abnormal heart morphology	51132	RLIM	OMIM:300978
HP:0001627	Abnormal heart morphology	5339	PLEC	ORPHA:79401
HP:0001627	Abnormal heart morphology	55863	TMEM126B	OMIM:618250
HP:0001627	Abnormal heart morphology	25942	SIN3A	ORPHA:94065
HP:0001627	Abnormal heart morphology	26053	AUTS2	ORPHA:352490
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93926
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93924
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93925
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:220386
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93926
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93924
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93925
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:220386
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93926
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93924
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93925
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:220386
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93926
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93924
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93925
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:220386
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93926
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93924
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93925
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:220386
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93926
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93924
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93925
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:220386
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93926
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93924
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93925
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:220386
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93926
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93924
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93925
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:220386
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93926
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93924
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93925
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:220386
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93926
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93924
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93925
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:220386
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93926
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93924
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93925
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:220386
HP:0001627	Abnormal heart morphology	5728	PTEN	ORPHA:79076
HP:0001627	Abnormal heart morphology	26040	SETBP1	ORPHA:798
HP:0001627	Abnormal heart morphology	9056	SLC7A7	ORPHA:470
HP:0001627	Abnormal heart morphology	23233	EXOC6B	ORPHA:93359
HP:0001627	Abnormal heart morphology	56052	ALG1	ORPHA:79327
HP:0001627	Abnormal heart morphology	2887	GRB10	ORPHA:96182
HP:0001627	Abnormal heart morphology	1457	CSNK2A1	OMIM:617062
HP:0001627	Abnormal heart morphology	58508	KMT2C	ORPHA:261652
HP:0001627	Abnormal heart morphology	27086	FOXP1	ORPHA:391372
HP:0001627	Abnormal heart morphology	6288	SAA1	ORPHA:85445
HP:0001627	Abnormal heart morphology	5921	RASA1	ORPHA:137667
HP:0001627	Abnormal heart morphology	8642	DCHS1	ORPHA:314679
HP:0001627	Abnormal heart morphology	6949	TCOF1	OMIM:154500
HP:0001627	Abnormal heart morphology	2625	GATA3	ORPHA:2237
HP:0001627	Abnormal heart morphology	55681	SCYL2	ORPHA:1143
HP:0001627	Abnormal heart morphology	84570	COL25A1	ORPHA:1143
HP:0001627	Abnormal heart morphology	57222	ERGIC1	ORPHA:1143
HP:0001627	Abnormal heart morphology	10210	TOPORS	ORPHA:2754
HP:0001627	Abnormal heart morphology	9851	KIAA0753	ORPHA:2754
HP:0001627	Abnormal heart morphology	5147	PDE6D	ORPHA:2754
HP:0001627	Abnormal heart morphology	317662	FAM149B1	ORPHA:2754
HP:0001627	Abnormal heart morphology	5087	PBX1	OMIM:617641
HP:0001627	Abnormal heart morphology	26173	INTS1	OMIM:618571
HP:0001627	Abnormal heart morphology	5813	PURA	ORPHA:314655
HP:0001627	Abnormal heart morphology	8036	SHOC2	OMIM:607721
HP:0001627	Abnormal heart morphology	28981	IFT81	OMIM:617895
HP:0001627	Abnormal heart morphology	91754	NEK9	OMIM:614262
HP:0001627	Abnormal heart morphology	91754	NEK9	OMIM:617022
HP:0001627	Abnormal heart morphology	2132	EXT2	OMIM:616682
HP:0001627	Abnormal heart morphology	6659	SOX4	OMIM:618506
HP:0001627	Abnormal heart morphology	6659	SOX4	ORPHA:1465
HP:0001627	Abnormal heart morphology	51126	NAA20	OMIM:619717
HP:0001627	Abnormal heart morphology	2972	BRF1	OMIM:616202
HP:0001627	Abnormal heart morphology	2972	BRF1	ORPHA:444072
HP:0001627	Abnormal heart morphology	81857	MED25	OMIM:616449
HP:0001627	Abnormal heart morphology	81857	MED25	ORPHA:464738
HP:0001627	Abnormal heart morphology	22800	RRAS2	OMIM:618624
HP:0001627	Abnormal heart morphology	91801	ALKBH8	OMIM:618504
HP:0001627	Abnormal heart morphology	1131	CHRM3	ORPHA:2970
HP:0001627	Abnormal heart morphology	55209	SETD5	ORPHA:404440
HP:0001627	Abnormal heart morphology	79639	TMEM53	OMIM:619727
HP:0001627	Abnormal heart morphology	23384	SPECC1L	ORPHA:1519
HP:0001627	Abnormal heart morphology	23384	SPECC1L	OMIM:145420
HP:0001627	Abnormal heart morphology	5189	PEX1	OMIM:214100
HP:0001627	Abnormal heart morphology	5189	PEX1	ORPHA:912
HP:0001627	Abnormal heart morphology	7021	TFAP2B	ORPHA:46627
HP:0001627	Abnormal heart morphology	54567	DLL4	OMIM:616589
HP:0001627	Abnormal heart morphology	815	CAMK2A	OMIM:617798
HP:0001627	Abnormal heart morphology	4853	NOTCH2	OMIM:102500
HP:0001627	Abnormal heart morphology	4853	NOTCH2	ORPHA:955
HP:0001627	Abnormal heart morphology	6926	TBX3	OMIM:181450
HP:0001627	Abnormal heart morphology	6926	TBX3	ORPHA:3138
HP:0001627	Abnormal heart morphology	93627	TBCK	ORPHA:488632
HP:0001627	Abnormal heart morphology	4247	MGAT2	OMIM:212066
HP:0001627	Abnormal heart morphology	4247	MGAT2	ORPHA:79329
HP:0001627	Abnormal heart morphology	81794	ADAMTS10	OMIM:277600
HP:0001627	Abnormal heart morphology	81794	ADAMTS10	ORPHA:3449
HP:0001627	Abnormal heart morphology	3476	IGBP1	ORPHA:52055
HP:0001627	Abnormal heart morphology	3476	IGBP1	OMIM:300472
HP:0001627	Abnormal heart morphology	51633	OTUD6B	OMIM:617452
HP:0001627	Abnormal heart morphology	51633	OTUD6B	ORPHA:505237
HP:0001627	Abnormal heart morphology	150468	CKAP2L	OMIM:272440
HP:0001627	Abnormal heart morphology	150468	CKAP2L	ORPHA:3255
HP:0001627	Abnormal heart morphology	415	ARSL	ORPHA:79345
HP:0001627	Abnormal heart morphology	1859	DYRK1A	ORPHA:464311
HP:0001627	Abnormal heart morphology	1859	DYRK1A	ORPHA:268261
HP:0001627	Abnormal heart morphology	8314	BAP1	OMIM:619762
HP:0001627	Abnormal heart morphology	7750	ZMYM2	OMIM:619522
HP:0001627	Abnormal heart morphology	200424	TET3	OMIM:618798
HP:0001627	Abnormal heart morphology	2542	SLC37A4	OMIM:619525
HP:0001627	Abnormal heart morphology	9993	DGCR2	OMIM:192430
HP:0001627	Abnormal heart morphology	8220	ESS2	OMIM:192430
HP:0001627	Abnormal heart morphology	8214	DGCR6	OMIM:192430
HP:0001627	Abnormal heart morphology	54487	DGCR8	OMIM:192430
HP:0001627	Abnormal heart morphology	51341	ZBTB7A	OMIM:619769
HP:0001627	Abnormal heart morphology	285203	EOGT	OMIM:615297
HP:0001627	Abnormal heart morphology	8565	YARS1	OMIM:619418
HP:0001627	Abnormal heart morphology	25836	NIPBL	OMIM:122470
HP:0001627	Abnormal heart morphology	25836	NIPBL	ORPHA:199
HP:0001627	Abnormal heart morphology	23499	MACF1	OMIM:618325
HP:0001627	Abnormal heart morphology	3930	LBR	OMIM:169400
HP:0001627	Abnormal heart morphology	404672	GTF2H5	ORPHA:33364
HP:0001627	Abnormal heart morphology	833	CARS1	ORPHA:33364
HP:0001627	Abnormal heart morphology	2068	ERCC2	ORPHA:33364
HP:0001627	Abnormal heart morphology	7737	RNF113A	ORPHA:33364
HP:0001627	Abnormal heart morphology	136647	MPLKIP	ORPHA:33364
HP:0001627	Abnormal heart morphology	136647	MPLKIP	OMIM:234050
HP:0001627	Abnormal heart morphology	6897	TARS1	ORPHA:33364
HP:0001627	Abnormal heart morphology	2071	ERCC3	ORPHA:33364
HP:0001627	Abnormal heart morphology	2961	GTF2E2	ORPHA:33364
HP:0001627	Abnormal heart morphology	54361	WNT4	OMIM:611812
HP:0001627	Abnormal heart morphology	54361	WNT4	ORPHA:139466
HP:0001627	Abnormal heart morphology	286204	CRB2	OMIM:219730
HP:0001627	Abnormal heart morphology	6138	RPL15	ORPHA:124
HP:0001627	Abnormal heart morphology	6138	RPL15	OMIM:615550
HP:0001627	Abnormal heart morphology	6229	RPS24	ORPHA:124
HP:0001627	Abnormal heart morphology	6204	RPS10	ORPHA:124
HP:0001627	Abnormal heart morphology	6165	RPL35A	ORPHA:124
HP:0001627	Abnormal heart morphology	6165	RPL35A	OMIM:612528
HP:0001627	Abnormal heart morphology	6223	RPS19	ORPHA:124
HP:0001627	Abnormal heart morphology	6223	RPS19	OMIM:105650
HP:0001627	Abnormal heart morphology	6232	RPS27	ORPHA:124
HP:0001627	Abnormal heart morphology	6231	RPS26	ORPHA:124
HP:0001627	Abnormal heart morphology	6231	RPS26	OMIM:613309
HP:0001627	Abnormal heart morphology	11224	RPL35	ORPHA:124
HP:0001627	Abnormal heart morphology	6160	RPL31	ORPHA:124
HP:0001627	Abnormal heart morphology	6218	RPS17	ORPHA:124
HP:0001627	Abnormal heart morphology	6201	RPS7	ORPHA:124
HP:0001627	Abnormal heart morphology	6155	RPL27	ORPHA:124
HP:0001627	Abnormal heart morphology	6210	RPS15A	ORPHA:124
HP:0001627	Abnormal heart morphology	90121	TSR2	ORPHA:124
HP:0001627	Abnormal heart morphology	6141	RPL18	ORPHA:124
HP:0001627	Abnormal heart morphology	6235	RPS29	ORPHA:124
HP:0001627	Abnormal heart morphology	6234	RPS28	ORPHA:124
HP:0001627	Abnormal heart morphology	8621	CDK13	OMIM:617360
HP:0001627	Abnormal heart morphology	1892	ECHS1	OMIM:616277
HP:0001627	Abnormal heart morphology	1892	ECHS1	ORPHA:255241
HP:0001627	Abnormal heart morphology	1523	CUX1	OMIM:618330
HP:0001627	Abnormal heart morphology	55770	EXOC2	OMIM:619306
HP:0001627	Abnormal heart morphology	6654	SOS1	OMIM:610733
HP:0001627	Abnormal heart morphology	6792	CDKL5	ORPHA:1934
HP:0001627	Abnormal heart morphology	3736	KCNA1	ORPHA:1934
HP:0001627	Abnormal heart morphology	9091	PIGQ	ORPHA:1934
HP:0001627	Abnormal heart morphology	2775	GNAO1	ORPHA:1934
HP:0001627	Abnormal heart morphology	81603	TRIM8	ORPHA:1934
HP:0001627	Abnormal heart morphology	2902	GRIN1	ORPHA:1934
HP:0001627	Abnormal heart morphology	79751	SLC25A22	ORPHA:1934
HP:0001627	Abnormal heart morphology	150094	SIK1	ORPHA:1934
HP:0001627	Abnormal heart morphology	8573	CASK	ORPHA:1934
HP:0001627	Abnormal heart morphology	23312	DMXL2	ORPHA:1934
HP:0001627	Abnormal heart morphology	2917	GRM7	ORPHA:1934
HP:0001627	Abnormal heart morphology	170302	ARX	ORPHA:1934
HP:0001627	Abnormal heart morphology	170302	ARX	ORPHA:452
HP:0001627	Abnormal heart morphology	11284	PNKP	ORPHA:1934
HP:0001627	Abnormal heart morphology	6326	SCN2A	ORPHA:1934
HP:0001627	Abnormal heart morphology	51227	PIGP	ORPHA:1934
HP:0001627	Abnormal heart morphology	4761	NEUROD2	ORPHA:1934
HP:0001627	Abnormal heart morphology	2263	FGFR2	OMIM:101200
HP:0001627	Abnormal heart morphology	388015	RTL1	ORPHA:254534
HP:0001627	Abnormal heart morphology	388015	RTL1	ORPHA:96334
HP:0001627	Abnormal heart morphology	8788	DLK1	ORPHA:254534
HP:0001627	Abnormal heart morphology	8788	DLK1	ORPHA:96334
HP:0001627	Abnormal heart morphology	55384	MEG3	ORPHA:254534
HP:0001627	Abnormal heart morphology	55384	MEG3	ORPHA:96334
HP:0001627	Abnormal heart morphology	123606	NIPA1	ORPHA:261183
HP:0001627	Abnormal heart morphology	7283	TUBG1	ORPHA:261183
HP:0001627	Abnormal heart morphology	81614	NIPA2	ORPHA:261183
HP:0001627	Abnormal heart morphology	23314	SATB2	ORPHA:251028
HP:0001627	Abnormal heart morphology	55315	SLC29A3	OMIM:602782
HP:0001627	Abnormal heart morphology	55315	SLC29A3	ORPHA:1782
HP:0001627	Abnormal heart morphology	23395	LARS2	OMIM:617021
HP:0001627	Abnormal heart morphology	6651	SON	OMIM:617140
HP:0001627	Abnormal heart morphology	4041	LRP5	OMIM:259770
HP:0001627	Abnormal heart morphology	79068	FTO	OMIM:612938
HP:0001627	Abnormal heart morphology	57551	TAOK1	OMIM:619575
HP:0001627	Abnormal heart morphology	10082	GPC6	OMIM:258315
HP:0001627	Abnormal heart morphology	1108	CHD4	OMIM:617159
HP:0001627	Abnormal heart morphology	3265	HRAS	ORPHA:3071
HP:0001627	Abnormal heart morphology	3265	HRAS	OMIM:218040
HP:0001627	Abnormal heart morphology	372	ARCN1	OMIM:617164
HP:0001627	Abnormal heart morphology	6304	SATB1	OMIM:619229
HP:0001627	Abnormal heart morphology	4990	SIX6	OMIM:206900
HP:0001627	Abnormal heart morphology	6657	SOX2	OMIM:206900
HP:0001627	Abnormal heart morphology	6657	SOX2	ORPHA:77298
HP:0001627	Abnormal heart morphology	8883	NAE1	OMIM:620210
HP:0001627	Abnormal heart morphology	9343	EFTUD2	OMIM:610536
HP:0001627	Abnormal heart morphology	57003	CCDC47	OMIM:618268
HP:0001627	Abnormal heart morphology	57061	HYMAI	ORPHA:96191
HP:0001627	Abnormal heart morphology	5325	PLAGL1	ORPHA:96191
HP:0001627	Abnormal heart morphology	340419	RSPO2	OMIM:618021
HP:0001627	Abnormal heart morphology	26005	C2CD3	ORPHA:434179
HP:0001627	Abnormal heart morphology	26005	C2CD3	OMIM:615948
HP:0001627	Abnormal heart morphology	10283	CWC27	OMIM:250410
HP:0001627	Abnormal heart morphology	10283	CWC27	ORPHA:166035
HP:0001627	Abnormal heart morphology	4222	MEOX1	OMIM:214300
HP:0001627	Abnormal heart morphology	4222	MEOX1	ORPHA:2345
HP:0001627	Abnormal heart morphology	407975	MIR17HG	ORPHA:391646
HP:0001627	Abnormal heart morphology	4256	MGP	OMIM:245150
HP:0001627	Abnormal heart morphology	4256	MGP	ORPHA:85202
HP:0001627	Abnormal heart morphology	5297	PI4KA	ORPHA:436252
HP:0001627	Abnormal heart morphology	57217	TTC7A	ORPHA:436252
HP:0001627	Abnormal heart morphology	57217	TTC7A	OMIM:243150
HP:0001627	Abnormal heart morphology	3643	INSR	ORPHA:769
HP:0001627	Abnormal heart morphology	10262	SF3B4	OMIM:154400
HP:0001627	Abnormal heart morphology	26128	KIFBP	OMIM:609460
HP:0001627	Abnormal heart morphology	83700	JAM3	OMIM:613730
HP:0001627	Abnormal heart morphology	8854	ALDH1A2	OMIM:620025
HP:0001627	Abnormal heart morphology	10992	SF3B2	OMIM:164210
HP:0001627	Abnormal heart morphology	8496	PPFIBP1	OMIM:620024
HP:0001627	Abnormal heart morphology	29072	SETD2	ORPHA:821
HP:0001627	Abnormal heart morphology	10297	APC2	ORPHA:821
HP:0001627	Abnormal heart morphology	80232	WDR26	ORPHA:513456
HP:0001627	Abnormal heart morphology	80232	WDR26	OMIM:617616
HP:0001627	Abnormal heart morphology	613	BCR	ORPHA:261330
HP:0001627	Abnormal heart morphology	1399	CRKL	ORPHA:261330
HP:0001627	Abnormal heart morphology	5594	MAPK1	ORPHA:261330
HP:0001627	Abnormal heart morphology	89910	UBE3B	OMIM:244450
HP:0001627	Abnormal heart morphology	10225	CD96	OMIM:211750
HP:0001627	Abnormal heart morphology	57492	ARID1B	OMIM:135900
HP:0001627	Abnormal heart morphology	57492	ARID1B	ORPHA:1465
HP:0001627	Abnormal heart morphology	1889	ECE1	OMIM:613870
HP:0001627	Abnormal heart morphology	1801	DPH1	OMIM:616901
HP:0001627	Abnormal heart morphology	8772	FADD	OMIM:613759
HP:0001627	Abnormal heart morphology	8772	FADD	ORPHA:306550
HP:0001627	Abnormal heart morphology	6597	SMARCA4	OMIM:614609
HP:0001627	Abnormal heart morphology	6597	SMARCA4	ORPHA:1465
HP:0001627	Abnormal heart morphology	55697	VAC14	ORPHA:3472
HP:0001627	Abnormal heart morphology	4036	LRP2	ORPHA:2143
HP:0001627	Abnormal heart morphology	4036	LRP2	OMIM:222448
HP:0001627	Abnormal heart morphology	53834	FGFRL1	OMIM:194190
HP:0001627	Abnormal heart morphology	5828	PEX2	OMIM:614866
HP:0001627	Abnormal heart morphology	5828	PEX2	ORPHA:912
HP:0001627	Abnormal heart morphology	55719	SLF2	OMIM:620184
HP:0001627	Abnormal heart morphology	6558	SLC12A2	OMIM:619083
HP:0001627	Abnormal heart morphology	10236	HNRNPR	OMIM:620073
HP:0001627	Abnormal heart morphology	6628	SNRPB	ORPHA:1393
HP:0001627	Abnormal heart morphology	6628	SNRPB	OMIM:117650
HP:0001627	Abnormal heart morphology	182	JAG1	OMIM:118450
HP:0001627	Abnormal heart morphology	182	JAG1	OMIM:617992
HP:0001627	Abnormal heart morphology	9409	PEX16	OMIM:614876
HP:0001627	Abnormal heart morphology	9409	PEX16	ORPHA:912
HP:0001627	Abnormal heart morphology	51244	CCDC174	OMIM:616816
HP:0001627	Abnormal heart morphology	10324	KLHL41	OMIM:615731
HP:0001627	Abnormal heart morphology	4053	LTBP2	ORPHA:3449
HP:0001627	Abnormal heart morphology	157570	ESCO2	OMIM:268300
HP:0001627	Abnormal heart morphology	2317	FLNB	OMIM:150250
HP:0001627	Abnormal heart morphology	2303	FOXC2	OMIM:153400
HP:0001627	Abnormal heart morphology	667	DST	OMIM:614653
HP:0001627	Abnormal heart morphology	9573	GDF3	ORPHA:2345
HP:0001627	Abnormal heart morphology	392255	GDF6	ORPHA:2345
HP:0001627	Abnormal heart morphology	55112	DYNC2I1	OMIM:615503
HP:0001627	Abnormal heart morphology	55670	PEX26	ORPHA:912
HP:0001627	Abnormal heart morphology	8504	PEX3	ORPHA:912
HP:0001627	Abnormal heart morphology	8799	PEX11B	ORPHA:912
HP:0001627	Abnormal heart morphology	5190	PEX6	ORPHA:912
HP:0001627	Abnormal heart morphology	5830	PEX5	ORPHA:912
HP:0001627	Abnormal heart morphology	5193	PEX12	ORPHA:912
HP:0001627	Abnormal heart morphology	5194	PEX13	ORPHA:912
HP:0001627	Abnormal heart morphology	5195	PEX14	ORPHA:912
HP:0001627	Abnormal heart morphology	5192	PEX10	ORPHA:912
HP:0001627	Abnormal heart morphology	8243	SMC1A	OMIM:301044
HP:0001627	Abnormal heart morphology	8243	SMC1A	ORPHA:199
HP:0001627	Abnormal heart morphology	5648	MASP1	OMIM:257920
HP:0001627	Abnormal heart morphology	26160	IFT172	OMIM:615630
HP:0001627	Abnormal heart morphology	1788	DNMT3A	OMIM:615879
HP:0001627	Abnormal heart morphology	85358	SHANK3	OMIM:606232
HP:0001627	Abnormal heart morphology	57167	SALL4	OMIM:607323
HP:0001627	Abnormal heart morphology	83479	DDX59	OMIM:174300
HP:0001627	Abnormal heart morphology	6598	SMARCB1	ORPHA:1465
HP:0001627	Abnormal heart morphology	8289	ARID1A	ORPHA:1465
HP:0001627	Abnormal heart morphology	6601	SMARCC2	ORPHA:1465
HP:0001627	Abnormal heart morphology	6602	SMARCD1	ORPHA:1465
HP:0001627	Abnormal heart morphology	196528	ARID2	ORPHA:1465
HP:0001627	Abnormal heart morphology	6605	SMARCE1	ORPHA:1465
HP:0001627	Abnormal heart morphology	6664	SOX11	ORPHA:1465
HP:0001627	Abnormal heart morphology	5160	PDHA1	ORPHA:79243
HP:0001627	Abnormal heart morphology	5160	PDHA1	ORPHA:255241
HP:0001627	Abnormal heart morphology	6606	SMN1	OMIM:253300
HP:0001627	Abnormal heart morphology	3209	HOXA13	ORPHA:2438
HP:0001627	Abnormal heart morphology	79576	NKAP	OMIM:301039
HP:0001627	Abnormal heart morphology	25	ABL1	OMIM:617602
HP:0001627	Abnormal heart morphology	57511	COG6	OMIM:614576
HP:0001627	Abnormal heart morphology	7074	TIAM1	OMIM:619908
HP:0001627	Abnormal heart morphology	23476	BRD4	ORPHA:199
HP:0001627	Abnormal heart morphology	55869	HDAC8	ORPHA:199
HP:0001627	Abnormal heart morphology	5885	RAD21	ORPHA:199
HP:0001627	Abnormal heart morphology	157680	VPS13B	ORPHA:193
HP:0001627	Abnormal heart morphology	10367	MICU1	OMIM:615673
HP:0001627	Abnormal heart morphology	10293	TRAIP	OMIM:616777
HP:0001627	Abnormal heart morphology	202018	TAPT1	OMIM:616897
HP:0001627	Abnormal heart morphology	139285	AMER1	OMIM:300373
HP:0001627	Abnormal heart morphology	80704	SLC19A3	ORPHA:255241
HP:0001627	Abnormal heart morphology	91942	NDUFAF2	ORPHA:255241
HP:0001627	Abnormal heart morphology	4723	NDUFV1	ORPHA:255241
HP:0001627	Abnormal heart morphology	55572	FOXRED1	ORPHA:255241
HP:0001627	Abnormal heart morphology	4729	NDUFV2	ORPHA:255241
HP:0001627	Abnormal heart morphology	55967	NDUFA12	ORPHA:255241
HP:0001627	Abnormal heart morphology	51204	TACO1	ORPHA:255241
HP:0001627	Abnormal heart morphology	4728	NDUFS8	ORPHA:255241
HP:0001627	Abnormal heart morphology	137682	NDUFAF6	ORPHA:255241
HP:0001627	Abnormal heart morphology	4722	NDUFS3	ORPHA:255241
HP:0001627	Abnormal heart morphology	79133	NDUFAF5	ORPHA:255241
HP:0001627	Abnormal heart morphology	100131801	PET100	ORPHA:255241
HP:0001627	Abnormal heart morphology	1355	COX15	ORPHA:255241
HP:0001627	Abnormal heart morphology	51079	NDUFA13	ORPHA:255241
HP:0001627	Abnormal heart morphology	374291	NDUFS7	ORPHA:255241
HP:0001627	Abnormal heart morphology	4705	NDUFA10	ORPHA:255241
HP:0001627	Abnormal heart morphology	51601	LIPT1	ORPHA:255241
HP:0001627	Abnormal heart morphology	4719	NDUFS1	ORPHA:255241
HP:0001627	Abnormal heart morphology	4695	NDUFA2	ORPHA:255241
HP:0001627	Abnormal heart morphology	4697	NDUFA4	ORPHA:255241
HP:0001627	Abnormal heart morphology	4704	NDUFA9	ORPHA:255241
HP:0001627	Abnormal heart morphology	10274	STAG1	OMIM:617635
HP:0001627	Abnormal heart morphology	51780	KDM3B	OMIM:618846
HP:0001627	Abnormal heart morphology	1663	DDX11	OMIM:613398
HP:0001627	Abnormal heart morphology	10312	TCIRG1	ORPHA:1782
HP:0001627	Abnormal heart morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001627	Abnormal heart morphology	5718	PSMD12	OMIM:617516
HP:0001627	Abnormal heart morphology	9439	MED23	OMIM:614249
HP:0001627	Abnormal heart morphology	124583	CANT1	ORPHA:1425
HP:0001627	Abnormal heart morphology	7372	UMPS	OMIM:258900
HP:0001627	Abnormal heart morphology	84148	KAT8	OMIM:618974
HP:0001627	Abnormal heart morphology	6655	SOS2	OMIM:616559
HP:0001627	Abnormal heart morphology	23334	SZT2	OMIM:615476
HP:0001627	Abnormal heart morphology	6595	SMARCA2	ORPHA:2728
HP:0001627	Abnormal heart morphology	28960	DCPS	OMIM:616459
HP:0001627	Abnormal heart morphology	57231	SNX14	ORPHA:397709
HP:0001627	Abnormal heart morphology	2261	FGFR3	ORPHA:1860
HP:0001627	Abnormal heart morphology	2261	FGFR3	ORPHA:93274
HP:0001627	Abnormal heart morphology	2296	FOXC1	OMIM:602482
HP:0001627	Abnormal heart morphology	1182	CLCN3	OMIM:619512
HP:0001627	Abnormal heart morphology	8558	CDK10	OMIM:617694
HP:0001627	Abnormal heart morphology	7385	UQCRC2	OMIM:615160
HP:0001627	Abnormal heart morphology	6477	SIAH1	OMIM:619314
HP:0001627	Abnormal heart morphology	92335	STRADA	ORPHA:500533
HP:0001627	Abnormal heart morphology	92335	STRADA	OMIM:611087
HP:0001627	Abnormal heart morphology	1363	CPE	OMIM:619326
HP:0001627	Abnormal heart morphology	51114	ZDHHC9	ORPHA:776
HP:0001627	Abnormal heart morphology	65109	UPF3B	ORPHA:776
HP:0001627	Abnormal heart morphology	5077	PAX3	ORPHA:896
HP:0001627	Abnormal heart morphology	2530	FUT8	OMIM:618005
HP:0001627	Abnormal heart morphology	54551	MAGEL2	ORPHA:398069
HP:0001627	Abnormal heart morphology	9496	TBX4	ORPHA:261279
HP:0001627	Abnormal heart morphology	5277	PIGA	OMIM:300868
HP:0001627	Abnormal heart morphology	3188	HNRNPH2	OMIM:300986
HP:0001627	Abnormal heart morphology	55186	SLC25A36	OMIM:620211
HP:0001627	Abnormal heart morphology	5281	PIGF	OMIM:619356
HP:0001627	Abnormal heart morphology	8452	CUL3	OMIM:619239
HP:0001627	Abnormal heart morphology	51360	MBTPS2	OMIM:308205
HP:0001627	Abnormal heart morphology	55252	ASXL2	OMIM:617190
HP:0001627	Abnormal heart morphology	84905	ZNF341	OMIM:618282
HP:0001627	Abnormal heart morphology	23387	SIK3	OMIM:618162
HP:0001627	Abnormal heart morphology	56992	KIF15	ORPHA:261323
HP:0001627	Abnormal heart morphology	5826	ABCD4	OMIM:614857
HP:0001627	Abnormal heart morphology	10841	FTCD	ORPHA:51208
HP:0001627	Abnormal heart morphology	84720	PIGO	OMIM:614749
HP:0001627	Abnormal heart morphology	6789	STK4	OMIM:614868
HP:0001627	Abnormal heart morphology	54499	TMCO1	OMIM:213980
HP:0001627	Abnormal heart morphology	3911	LAMA5	OMIM:620076
HP:0001627	Abnormal heart morphology	51574	LARP7	ORPHA:319671
HP:0001627	Abnormal heart morphology	50945	TBX22	ORPHA:921
HP:0001627	Abnormal heart morphology	84978	FRMD5	OMIM:620094
HP:0001627	Abnormal heart morphology	10664	CTCF	OMIM:615502
HP:0001627	Abnormal heart morphology	10664	CTCF	ORPHA:363611
HP:0001627	Abnormal heart morphology	9780	PIEZO1	OMIM:616843
HP:0001627	Abnormal heart morphology	2258	FGF13	OMIM:301058
HP:0001627	Abnormal heart morphology	113179	ADAT3	ORPHA:363528
HP:0001627	Abnormal heart morphology	5447	POR	OMIM:207410
HP:0001627	Abnormal heart morphology	4297	KMT2A	OMIM:605130
HP:0001627	Abnormal heart morphology	27315	PGAP2	OMIM:614207
HP:0001627	Abnormal heart morphology	6857	SYT1	ORPHA:522077
HP:0001627	Abnormal heart morphology	3832	KIF11	ORPHA:2526
HP:0001627	Abnormal heart morphology	5116	PCNT	ORPHA:2637
HP:0001627	Abnormal heart morphology	2137	EXTL3	ORPHA:508533
HP:0001627	Abnormal heart morphology	84627	ZNF469	OMIM:229200
HP:0001627	Abnormal heart morphology	84627	ZNF469	ORPHA:90354
HP:0001627	Abnormal heart morphology	4054	LTBP3	OMIM:601216
HP:0001627	Abnormal heart morphology	51726	DNAJB11	ORPHA:730
HP:0001627	Abnormal heart morphology	23193	GANAB	ORPHA:730
HP:0001627	Abnormal heart morphology	5310	PKD1	ORPHA:730
HP:0001627	Abnormal heart morphology	5310	PKD1	OMIM:173900
HP:0001627	Abnormal heart morphology	29880	ALG5	ORPHA:730
HP:0001627	Abnormal heart morphology	9742	IFT140	ORPHA:730
HP:0001627	Abnormal heart morphology	80114	BICC1	ORPHA:730
HP:0001627	Abnormal heart morphology	2332	FMR1	ORPHA:449291
HP:0001627	Abnormal heart morphology	2332	FMR1	OMIM:300624
HP:0001627	Abnormal heart morphology	2332	FMR1	ORPHA:908
HP:0001627	Abnormal heart morphology	5351	PLOD1	ORPHA:1900
HP:0001627	Abnormal heart morphology	56776	FMN2	OMIM:616193
HP:0001627	Abnormal heart morphology	26278	SACS	ORPHA:98
HP:0001627	Abnormal heart morphology	633	BGN	OMIM:300989
HP:0001627	Abnormal heart morphology	1280	COL2A1	ORPHA:90653
HP:0001627	Abnormal heart morphology	1280	COL2A1	OMIM:108300
HP:0001627	Abnormal heart morphology	7450	VWF	OMIM:193400
HP:0001627	Abnormal heart morphology	11107	PRDM5	ORPHA:90354
HP:0001627	Abnormal heart morphology	22873	DZIP1	OMIM:610840
HP:0001627	Abnormal heart morphology	875	CBS	OMIM:236200
HP:0001627	Abnormal heart morphology	4883	NPR3	OMIM:619543
HP:0001627	Abnormal heart morphology	161742	SPRED1	ORPHA:137605
HP:0001627	Abnormal heart morphology	23414	ZFPM2	ORPHA:3303
HP:0001627	Abnormal heart morphology	23414	ZFPM2	OMIM:187500
HP:0001627	Abnormal heart morphology	3791	KDR	ORPHA:3303
HP:0001627	Abnormal heart morphology	8443	GNPAT	OMIM:222765
HP:0001627	Abnormal heart morphology	26275	HIBCH	ORPHA:88639
HP:0001627	Abnormal heart morphology	26275	HIBCH	OMIM:250620
HP:0001627	Abnormal heart morphology	1147	CHUK	OMIM:613630
HP:0001627	Abnormal heart morphology	7852	CXCR4	ORPHA:51636
HP:0001627	Abnormal heart morphology	8241	RBM10	OMIM:311900
HP:0001627	Abnormal heart morphology	8241	RBM10	ORPHA:2886
HP:0001627	Abnormal heart morphology	8092	ALX1	ORPHA:306542
HP:0001627	Abnormal heart morphology	3579	CXCR2	OMIM:619407
HP:0001627	Abnormal heart morphology	257	ALX3	OMIM:136760
HP:0001627	Abnormal heart morphology	10320	IKZF1	ORPHA:36426
HP:0001627	Abnormal heart morphology	80308	FLAD1	OMIM:255100
HP:0001627	Abnormal heart morphology	1161	ERCC8	ORPHA:90324
HP:0001627	Abnormal heart morphology	2074	ERCC6	ORPHA:90324
HP:0001627	Abnormal heart morphology	246243	RNASEH1	ORPHA:329336
HP:0001627	Abnormal heart morphology	50717	DCAF8	OMIM:610100
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:171433
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:171439
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:399103
HP:0001627	Abnormal heart morphology	1352	COX10	OMIM:619046
HP:0001627	Abnormal heart morphology	25782	RAB3GAP2	OMIM:212720
HP:0001627	Abnormal heart morphology	30061	SLC40A1	OMIM:606069
HP:0001627	Abnormal heart morphology	3908	LAMA2	ORPHA:258
HP:0001627	Abnormal heart morphology	191	AHCY	OMIM:613752
HP:0001627	Abnormal heart morphology	191	AHCY	ORPHA:88618
HP:0001627	Abnormal heart morphology	8878	SQSTM1	ORPHA:603
HP:0001627	Abnormal heart morphology	7072	TIA1	ORPHA:603
HP:0001627	Abnormal heart morphology	9499	MYOT	OMIM:609200
HP:0001627	Abnormal heart morphology	9499	MYOT	ORPHA:98911
HP:0001627	Abnormal heart morphology	10020	GNE	ORPHA:602
HP:0001627	Abnormal heart morphology	5095	PCCA	OMIM:606054
HP:0001627	Abnormal heart morphology	5095	PCCA	ORPHA:35
HP:0001627	Abnormal heart morphology	5096	PCCB	OMIM:606054
HP:0001627	Abnormal heart morphology	5096	PCCB	ORPHA:35
HP:0001627	Abnormal heart morphology	7466	WFS1	OMIM:222300
HP:0001627	Abnormal heart morphology	7466	WFS1	ORPHA:3463
HP:0001627	Abnormal heart morphology	10352	WARS2	ORPHA:572798
HP:0001627	Abnormal heart morphology	10352	WARS2	OMIM:617710
HP:0001627	Abnormal heart morphology	51594	NBAS	OMIM:616483
HP:0001627	Abnormal heart morphology	8239	USP9X	ORPHA:480880
HP:0001627	Abnormal heart morphology	3418	IDH2	OMIM:613657
HP:0001627	Abnormal heart morphology	773	CACNA1A	ORPHA:2131
HP:0001627	Abnormal heart morphology	6507	SLC1A3	ORPHA:2131
HP:0001627	Abnormal heart morphology	477	ATP1A2	ORPHA:2131
HP:0001627	Abnormal heart morphology	478	ATP1A3	ORPHA:2131
HP:0001627	Abnormal heart morphology	493856	CISD2	ORPHA:3463
HP:0001627	Abnormal heart morphology	728294	D2HGDH	OMIM:600721
HP:0001627	Abnormal heart morphology	25973	PARS2	OMIM:618437
HP:0001627	Abnormal heart morphology	3178	HNRNPA1	ORPHA:52430
HP:0001627	Abnormal heart morphology	7415	VCP	ORPHA:52430
HP:0001627	Abnormal heart morphology	7415	VCP	ORPHA:329478
HP:0001627	Abnormal heart morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001627	Abnormal heart morphology	390594	KBTBD13	ORPHA:171439
HP:0001627	Abnormal heart morphology	10195	ALG3	ORPHA:79321
HP:0001627	Abnormal heart morphology	5256	PHKA2	ORPHA:264580
HP:0001627	Abnormal heart morphology	5261	PHKG2	ORPHA:264580
HP:0001627	Abnormal heart morphology	4594	MMUT	ORPHA:79312
HP:0001627	Abnormal heart morphology	4594	MMUT	OMIM:251000
HP:0001627	Abnormal heart morphology	2632	GBE1	OMIM:232500
HP:0001627	Abnormal heart morphology	81570	CLPB	ORPHA:445038
HP:0001627	Abnormal heart morphology	411	ARSB	OMIM:253200
HP:0001627	Abnormal heart morphology	7084	TK2	ORPHA:254886
HP:0001627	Abnormal heart morphology	3714	JAG2	OMIM:619566
HP:0001627	Abnormal heart morphology	3756	KCNH1	OMIM:135500
HP:0001627	Abnormal heart morphology	2771	GNAI2	OMIM:192605
HP:0001627	Abnormal heart morphology	51095	TRNT1	OMIM:616084
HP:0001627	Abnormal heart morphology	4576	MT-TT	ORPHA:254857
HP:0001627	Abnormal heart morphology	35	ACADS	OMIM:201470
HP:0001627	Abnormal heart morphology	35	ACADS	ORPHA:26792
HP:0001627	Abnormal heart morphology	3257	HPS1	OMIM:203300
HP:0001627	Abnormal heart morphology	3704	ITPA	OMIM:616647
HP:0001627	Abnormal heart morphology	7036	TFR2	OMIM:604250
HP:0001627	Abnormal heart morphology	84197	POMK	ORPHA:370959
HP:0001627	Abnormal heart morphology	55624	POMGNT1	ORPHA:370959
HP:0001627	Abnormal heart morphology	283459	GATC	OMIM:618839
HP:0001627	Abnormal heart morphology	51099	ABHD5	ORPHA:98907
HP:0001627	Abnormal heart morphology	84700	MYO18B	OMIM:616549
HP:0001627	Abnormal heart morphology	55005	RMND1	OMIM:614922
HP:0001627	Abnormal heart morphology	203859	ANO5	ORPHA:206549
HP:0001627	Abnormal heart morphology	51103	NDUFAF1	ORPHA:2609
HP:0001627	Abnormal heart morphology	51103	NDUFAF1	OMIM:618234
HP:0001627	Abnormal heart morphology	51300	TIMMDC1	ORPHA:2609
HP:0001627	Abnormal heart morphology	4716	NDUFB10	ORPHA:2609
HP:0001627	Abnormal heart morphology	284184	NDUFAF8	ORPHA:2609
HP:0001627	Abnormal heart morphology	4694	NDUFA1	ORPHA:2609
HP:0001627	Abnormal heart morphology	4726	NDUFS6	ORPHA:2609
HP:0001627	Abnormal heart morphology	4709	NDUFB3	ORPHA:2609
HP:0001627	Abnormal heart morphology	80224	NUBPL	ORPHA:2609
HP:0001627	Abnormal heart morphology	29078	NDUFAF4	ORPHA:2609
HP:0001627	Abnormal heart morphology	29078	NDUFAF4	OMIM:618237
HP:0001627	Abnormal heart morphology	4700	NDUFA6	ORPHA:2609
HP:0001627	Abnormal heart morphology	4715	NDUFB9	ORPHA:2609
HP:0001627	Abnormal heart morphology	26235	FBXL4	OMIM:615471
HP:0001627	Abnormal heart morphology	4570	MT-TN	OMIM:220110
HP:0001627	Abnormal heart morphology	55532	SLC30A10	ORPHA:309854
HP:0001627	Abnormal heart morphology	84334	COA8	ORPHA:436271
HP:0001627	Abnormal heart morphology	84987	COX14	OMIM:619053
HP:0001627	Abnormal heart morphology	1757	SARDH	ORPHA:3129
HP:0001627	Abnormal heart morphology	5468	PPARG	ORPHA:79083
HP:0001627	Abnormal heart morphology	5468	PPARG	ORPHA:528
HP:0001627	Abnormal heart morphology	7274	TTPA	ORPHA:96
HP:0001627	Abnormal heart morphology	514	ATP5F1E	OMIM:614053
HP:0001627	Abnormal heart morphology	65080	MRPL44	OMIM:615395
HP:0001627	Abnormal heart morphology	4556	MT-TE	ORPHA:225
HP:0001627	Abnormal heart morphology	55210	ATAD3A	ORPHA:496790
HP:0001627	Abnormal heart morphology	55210	ATAD3A	OMIM:618810
HP:0001627	Abnormal heart morphology	55210	ATAD3A	OMIM:617183
HP:0001627	Abnormal heart morphology	2395	FXN	OMIM:229300
HP:0001627	Abnormal heart morphology	84833	ATP5MK	OMIM:618683
HP:0001627	Abnormal heart morphology	10661	KLF1	OMIM:613673
HP:0001627	Abnormal heart morphology	125988	MICOS13	OMIM:618329
HP:0001627	Abnormal heart morphology	2184	FAH	OMIM:276700
HP:0001627	Abnormal heart morphology	5836	PYGL	ORPHA:369
HP:0001627	Abnormal heart morphology	5837	PYGM	ORPHA:368
HP:0001627	Abnormal heart morphology	2010	EMD	ORPHA:98863
HP:0001627	Abnormal heart morphology	56246	MRAP	ORPHA:361
HP:0001627	Abnormal heart morphology	6770	STAR	ORPHA:361
HP:0001627	Abnormal heart morphology	4158	MC2R	ORPHA:361
HP:0001627	Abnormal heart morphology	23530	NNT	ORPHA:361
HP:0001627	Abnormal heart morphology	51067	YARS2	OMIM:613561
HP:0001627	Abnormal heart morphology	58497	PRUNE1	ORPHA:544469
HP:0001627	Abnormal heart morphology	7351	UCP2	ORPHA:276556
HP:0001627	Abnormal heart morphology	1738	DLD	OMIM:246900
HP:0001627	Abnormal heart morphology	5250	SLC25A3	ORPHA:91130
HP:0001627	Abnormal heart morphology	5250	SLC25A3	OMIM:610773
HP:0001627	Abnormal heart morphology	55750	AGK	ORPHA:1369
HP:0001627	Abnormal heart morphology	55750	AGK	OMIM:212350
HP:0001627	Abnormal heart morphology	56945	MRPS22	OMIM:611719
HP:0001627	Abnormal heart morphology	63931	MRPS14	OMIM:618378
HP:0001627	Abnormal heart morphology	7289	TULP3	OMIM:619902
HP:0001627	Abnormal heart morphology	128989	TANGO2	OMIM:616878
HP:0001627	Abnormal heart morphology	11019	LIAS	OMIM:614462
HP:0001627	Abnormal heart morphology	7167	TPI1	ORPHA:868
HP:0001627	Abnormal heart morphology	60528	ELAC2	OMIM:615440
HP:0001627	Abnormal heart morphology	55278	QRSL1	OMIM:618835
HP:0001627	Abnormal heart morphology	4976	OPA1	OMIM:616896
HP:0001627	Abnormal heart morphology	57570	TRMT5	OMIM:616539
HP:0001627	Abnormal heart morphology	617	BCS1L	OMIM:124000
HP:0001627	Abnormal heart morphology	10555	AGPAT2	ORPHA:528
HP:0001627	Abnormal heart morphology	284119	CAVIN1	ORPHA:528
HP:0001627	Abnormal heart morphology	2353	FOS	ORPHA:528
HP:0001627	Abnormal heart morphology	857	CAV1	ORPHA:528
HP:0001627	Abnormal heart morphology	84233	TMEM126A	OMIM:612989
HP:0001627	Abnormal heart morphology	129285	PPP1R21	OMIM:619383
HP:0001627	Abnormal heart morphology	9054	NFS1	OMIM:619386
HP:0001627	Abnormal heart morphology	22868	FASTKD2	OMIM:618855
HP:0001627	Abnormal heart morphology	3074	HEXB	OMIM:268800
HP:0001627	Abnormal heart morphology	5191	PEX7	OMIM:266500
HP:0001627	Abnormal heart morphology	5264	PHYH	OMIM:266500
HP:0001627	Abnormal heart morphology	6773	STAT2	OMIM:618886
HP:0001627	Abnormal heart morphology	4547	MTTP	ORPHA:14
HP:0001627	Abnormal heart morphology	9377	COX5A	OMIM:619064
HP:0001627	Abnormal heart morphology	3077	HFE	OMIM:235200
HP:0001627	Abnormal heart morphology	3077	HFE	ORPHA:465508
HP:0001627	Abnormal heart morphology	3028	HSD17B10	ORPHA:391428
HP:0001627	Abnormal heart morphology	94005	PIGS	OMIM:618143
HP:0001627	Abnormal heart morphology	2517	FUCA1	OMIM:230000
HP:0001627	Abnormal heart morphology	2517	FUCA1	ORPHA:349
HP:0001627	Abnormal heart morphology	5188	GATB	OMIM:618838
HP:0001627	Abnormal heart morphology	34	ACADM	ORPHA:42
HP:0001627	Abnormal heart morphology	57107	PDSS2	ORPHA:255249
HP:0001627	Abnormal heart morphology	27235	COQ2	ORPHA:255249
HP:0001627	Abnormal heart morphology	26503	SLC17A5	OMIM:269920
HP:0001627	Abnormal heart morphology	1028	CDKN1C	OMIM:130650
HP:0001627	Abnormal heart morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001627	Abnormal heart morphology	3481	IGF2	OMIM:130650
HP:0001627	Abnormal heart morphology	3784	KCNQ1	OMIM:130650
HP:0001627	Abnormal heart morphology	1374	CPT1A	OMIM:255120
HP:0001627	Abnormal heart morphology	4668	NAGA	ORPHA:79280
HP:0001627	Abnormal heart morphology	654	BMP6	ORPHA:465508
HP:0001627	Abnormal heart morphology	57505	AARS2	OMIM:614096
HP:0001627	Abnormal heart morphology	51025	PAM16	OMIM:613320
HP:0001627	Abnormal heart morphology	5696	PSMB8	OMIM:256040
HP:0001627	Abnormal heart morphology	10535	RNASEH2A	ORPHA:51
HP:0001627	Abnormal heart morphology	84153	RNASEH2C	ORPHA:51
HP:0001627	Abnormal heart morphology	25939	SAMHD1	ORPHA:51
HP:0001627	Abnormal heart morphology	79621	RNASEH2B	ORPHA:51
HP:0001627	Abnormal heart morphology	103	ADAR	ORPHA:51
HP:0001627	Abnormal heart morphology	134353	LSM11	ORPHA:51
HP:0001627	Abnormal heart morphology	84282	RNF135	ORPHA:137634
HP:0001627	Abnormal heart morphology	6237	RRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	22808	MRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	200734	SPRED2	ORPHA:648
HP:0001627	Abnormal heart morphology	4893	NRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	5922	RASA2	ORPHA:648
HP:0001627	Abnormal heart morphology	3516	RBPJ	ORPHA:974
HP:0001627	Abnormal heart morphology	57572	DOCK6	ORPHA:974
HP:0001627	Abnormal heart morphology	1186	CLCN7	ORPHA:667
HP:0001627	Abnormal heart morphology	29887	SNX10	ORPHA:667
HP:0001627	Abnormal heart morphology	8600	TNFSF11	ORPHA:667
HP:0001627	Abnormal heart morphology	3155	HMGCL	ORPHA:20
HP:0001627	Abnormal heart morphology	9015	TAF1A	ORPHA:154
HP:0001627	Abnormal heart morphology	7112	TMPO	ORPHA:154
HP:0001627	Abnormal heart morphology	9464	HAND2	ORPHA:154
HP:0001627	Abnormal heart morphology	10486	CAP2	ORPHA:154
HP:0001627	Abnormal heart morphology	27063	ANKRD1	ORPHA:154
HP:0001627	Abnormal heart morphology	1410	CRYAB	ORPHA:154
HP:0001627	Abnormal heart morphology	1410	CRYAB	OMIM:615184
HP:0001627	Abnormal heart morphology	1829	DSG2	ORPHA:154
HP:0001627	Abnormal heart morphology	1829	DSG2	OMIM:612877
HP:0001627	Abnormal heart morphology	3910	LAMA4	ORPHA:154
HP:0001627	Abnormal heart morphology	3910	LAMA4	OMIM:615235
HP:0001627	Abnormal heart morphology	10587	TXNRD2	ORPHA:154
HP:0001627	Abnormal heart morphology	79717	PPCS	ORPHA:154
HP:0001627	Abnormal heart morphology	79717	PPCS	OMIM:618189
HP:0001627	Abnormal heart morphology	9529	BAG5	ORPHA:154
HP:0001627	Abnormal heart morphology	9529	BAG5	OMIM:619747
HP:0001627	Abnormal heart morphology	282996	RBM20	ORPHA:154
HP:0001627	Abnormal heart morphology	282996	RBM20	OMIM:613172
HP:0001627	Abnormal heart morphology	2274	FHL2	ORPHA:154
HP:0001627	Abnormal heart morphology	57798	GATAD1	ORPHA:154
HP:0001627	Abnormal heart morphology	57798	GATAD1	OMIM:614672
HP:0001627	Abnormal heart morphology	2070	EYA4	ORPHA:217622
HP:0001627	Abnormal heart morphology	2070	EYA4	OMIM:605362
HP:0001627	Abnormal heart morphology	3033	HADH	OMIM:231530
HP:0001627	Abnormal heart morphology	3033	HADH	ORPHA:71212
HP:0001627	Abnormal heart morphology	23417	MLYCD	OMIM:248360
HP:0001627	Abnormal heart morphology	57122	NUP107	OMIM:618348
HP:0001627	Abnormal heart morphology	57122	NUP107	OMIM:616730
HP:0001627	Abnormal heart morphology	148738	HJV	OMIM:602390
HP:0001627	Abnormal heart morphology	148738	HJV	ORPHA:79230
HP:0001627	Abnormal heart morphology	6442	SGCA	OMIM:608099
HP:0001627	Abnormal heart morphology	3909	LAMA3	ORPHA:79404
HP:0001627	Abnormal heart morphology	3918	LAMC2	ORPHA:79404
HP:0001627	Abnormal heart morphology	3914	LAMB3	ORPHA:79404
HP:0001627	Abnormal heart morphology	1120	CHKB	OMIM:602541
HP:0001627	Abnormal heart morphology	4536	MT-ND2	ORPHA:255210
HP:0001627	Abnormal heart morphology	4537	MT-ND3	ORPHA:255210
HP:0001627	Abnormal heart morphology	4508	MT-ATP6	ORPHA:255210
HP:0001627	Abnormal heart morphology	4312	MMP1	ORPHA:79408
HP:0001627	Abnormal heart morphology	1294	COL7A1	ORPHA:79408
HP:0001627	Abnormal heart morphology	1294	COL7A1	ORPHA:89842
HP:0001627	Abnormal heart morphology	92667	MGME1	OMIM:615084
HP:0001627	Abnormal heart morphology	92667	MGME1	ORPHA:352447
HP:0001627	Abnormal heart morphology	55182	RNF220	OMIM:619688
HP:0001627	Abnormal heart morphology	27034	ACAD8	OMIM:611283
HP:0001627	Abnormal heart morphology	27034	ACAD8	ORPHA:79159
HP:0001627	Abnormal heart morphology	6443	SGCB	OMIM:604286
HP:0001627	Abnormal heart morphology	7015	TERT	OMIM:613989
HP:0001627	Abnormal heart morphology	54344	DPM3	OMIM:612937
HP:0001627	Abnormal heart morphology	54344	DPM3	ORPHA:263494
HP:0001627	Abnormal heart morphology	58528	RRAGD	OMIM:620152
HP:0001627	Abnormal heart morphology	513	ATP5F1D	OMIM:618120
HP:0001627	Abnormal heart morphology	26007	TKFC	OMIM:618805
HP:0001627	Abnormal heart morphology	10616	RBCK1	OMIM:615895
HP:0001627	Abnormal heart morphology	79184	BRCC3	ORPHA:280679
HP:0001627	Abnormal heart morphology	29967	LRP12	OMIM:164310
HP:0001627	Abnormal heart morphology	7156	TOP3A	OMIM:618097
HP:0001627	Abnormal heart morphology	51086	TNNI3K	OMIM:616117
HP:0001627	Abnormal heart morphology	8884	SLC5A6	OMIM:619903
HP:0001627	Abnormal heart morphology	388962	BOLA3	OMIM:614299
HP:0001627	Abnormal heart morphology	23230	VPS13A	ORPHA:2388
HP:0001627	Abnormal heart morphology	57817	HAMP	ORPHA:79230
HP:0001627	Abnormal heart morphology	28976	ACAD9	ORPHA:99901
HP:0001627	Abnormal heart morphology	28976	ACAD9	OMIM:611126
HP:0001627	Abnormal heart morphology	3043	HBB	ORPHA:231214
HP:0001627	Abnormal heart morphology	3043	HBB	ORPHA:231226
HP:0001627	Abnormal heart morphology	6262	RYR2	OMIM:604772
HP:0001627	Abnormal heart morphology	845	CASQ2	OMIM:604772
HP:0001627	Abnormal heart morphology	10345	TRDN	OMIM:604772
HP:0001627	Abnormal heart morphology	25915	NDUFAF3	ORPHA:70474
HP:0001627	Abnormal heart morphology	4714	NDUFB8	ORPHA:70474
HP:0001627	Abnormal heart morphology	6834	SURF1	ORPHA:70474
HP:0001627	Abnormal heart morphology	111	ADCY5	OMIM:606703
HP:0001627	Abnormal heart morphology	111	ADCY5	ORPHA:324588
HP:0001627	Abnormal heart morphology	7504	XK	OMIM:300842
HP:0001627	Abnormal heart morphology	2065	ERBB3	OMIM:607598
HP:0001627	Abnormal heart morphology	7518	XRCC4	OMIM:616541
HP:0001627	Abnormal heart morphology	2720	GLB1	OMIM:230500
HP:0001627	Abnormal heart morphology	5236	PGM1	OMIM:614921
HP:0001627	Abnormal heart morphology	25974	MMACHC	ORPHA:79282
HP:0001627	Abnormal heart morphology	7716	VEZF1	OMIM:620247
HP:0001627	Abnormal heart morphology	6533	SLC6A6	OMIM:145350
HP:0001627	Abnormal heart morphology	55679	LIMS2	OMIM:616827
HP:0001627	Abnormal heart morphology	3759	KCNJ2	ORPHA:37553
HP:0001627	Abnormal heart morphology	79188	TMEM43	ORPHA:98853
HP:0001627	Abnormal heart morphology	23224	SYNE2	ORPHA:98853
HP:0001627	Abnormal heart morphology	23630	KCNE5	ORPHA:86818
HP:0001627	Abnormal heart morphology	2182	ACSL4	ORPHA:86818
HP:0001627	Abnormal heart morphology	9949	AMMECR1	ORPHA:86818
HP:0001627	Abnormal heart morphology	54968	TMEM70	ORPHA:1194
HP:0001627	Abnormal heart morphology	4621	MYH3	ORPHA:2990
HP:0001627	Abnormal heart morphology	8473	OGT	OMIM:300997
HP:0001627	Abnormal heart morphology	6873	TAF2	OMIM:615599
HP:0001627	Abnormal heart morphology	6873	TAF2	ORPHA:397951
HP:0001627	Abnormal heart morphology	6650	CAPN15	OMIM:619318
HP:0001627	Abnormal heart morphology	3190	HNRNPK	ORPHA:453504
HP:0001627	Abnormal heart morphology	3190	HNRNPK	ORPHA:352665
HP:0001627	Abnormal heart morphology	4854	NOTCH3	OMIM:130720
HP:0001627	Abnormal heart morphology	3020	H3-3A	OMIM:619720
HP:0001627	Abnormal heart morphology	2201	FBN2	OMIM:121050
HP:0001627	Abnormal heart morphology	9126	SMC3	OMIM:610759
HP:0001627	Abnormal heart morphology	55249	YY1AP1	OMIM:602531
HP:0001627	Abnormal heart morphology	51816	ADA2	OMIM:182410
HP:0001627	Abnormal heart morphology	284058	KANSL1	ORPHA:363958
HP:0001627	Abnormal heart morphology	284058	KANSL1	ORPHA:363965
HP:0001627	Abnormal heart morphology	284058	KANSL1	OMIM:610443
HP:0001627	Abnormal heart morphology	55764	IFT122	OMIM:218330
HP:0001627	Abnormal heart morphology	9839	ZEB2	ORPHA:261552
HP:0001627	Abnormal heart morphology	9839	ZEB2	ORPHA:261537
HP:0001627	Abnormal heart morphology	54538	ROBO4	OMIM:618496
HP:0001627	Abnormal heart morphology	60	ACTB	OMIM:243310
HP:0001627	Abnormal heart morphology	8493	PPM1D	OMIM:617450
HP:0001627	Abnormal heart morphology	5977	DPF2	OMIM:618027
HP:0001627	Abnormal heart morphology	6711	SPTBN1	OMIM:619475
HP:0001627	Abnormal heart morphology	1909	EDNRA	OMIM:616367
HP:0001627	Abnormal heart morphology	6154	RPL26	OMIM:614900
HP:0001627	Abnormal heart morphology	79753	SNIP1	OMIM:614501
HP:0001627	Abnormal heart morphology	54828	BCAS3	OMIM:619641
HP:0001627	Abnormal heart morphology	2222	FDFT1	OMIM:618156
HP:0001627	Abnormal heart morphology	4780	NFE2L2	OMIM:617744
HP:0001627	Abnormal heart morphology	9371	KIF3B	OMIM:618955
HP:0001627	Abnormal heart morphology	93649	MYOCD	OMIM:618719
HP:0001627	Abnormal heart morphology	126792	B3GALT6	OMIM:271640
HP:0001627	Abnormal heart morphology	5879	RAC1	OMIM:617751
HP:0001627	Abnormal heart morphology	5879	RAC1	ORPHA:500159
HP:0001627	Abnormal heart morphology	5528	PPP2R5D	ORPHA:457279
HP:0001627	Abnormal heart morphology	27161	AGO2	OMIM:619149
HP:0001627	Abnormal heart morphology	583	BBS2	OMIM:615981
HP:0001627	Abnormal heart morphology	867	CBL	OMIM:613563
HP:0001627	Abnormal heart morphology	79875	THSD4	OMIM:619825
HP:0001627	Abnormal heart morphology	9652	SKIC3	ORPHA:84064
HP:0001627	Abnormal heart morphology	6499	SKIC2	ORPHA:84064
HP:0001627	Abnormal heart morphology	6736	SRY	ORPHA:1772
HP:0001627	Abnormal heart morphology	7042	TGFB2	OMIM:614816
HP:0001627	Abnormal heart morphology	7042	TGFB2	ORPHA:91387
HP:0001627	Abnormal heart morphology	7043	TGFB3	ORPHA:91387
HP:0001627	Abnormal heart morphology	59	ACTA2	ORPHA:91387
HP:0001627	Abnormal heart morphology	5592	PRKG1	ORPHA:91387
HP:0001627	Abnormal heart morphology	2301	FOXE3	ORPHA:91387
HP:0001627	Abnormal heart morphology	4144	MAT2A	ORPHA:91387
HP:0001627	Abnormal heart morphology	23493	HEY2	ORPHA:91387
HP:0001627	Abnormal heart morphology	8076	MFAP5	ORPHA:91387
HP:0001627	Abnormal heart morphology	6720	SREBF1	OMIM:158310
HP:0001627	Abnormal heart morphology	7040	TGFB1	OMIM:219700
HP:0001627	Abnormal heart morphology	1080	CFTR	OMIM:219700
HP:0001627	Abnormal heart morphology	695	BTK	OMIM:300755
HP:0001627	Abnormal heart morphology	58	ACTA1	ORPHA:2020
HP:0001627	Abnormal heart morphology	3679	ITGA7	ORPHA:2020
HP:0001627	Abnormal heart morphology	7169	TPM2	ORPHA:2020
HP:0001627	Abnormal heart morphology	9200	HACD1	ORPHA:2020
HP:0001627	Abnormal heart morphology	7170	TPM3	ORPHA:2020
HP:0001627	Abnormal heart morphology	51776	MAP3K20	ORPHA:2020
HP:0001627	Abnormal heart morphology	23241	PACS2	OMIM:618067
HP:0001627	Abnormal heart morphology	55788	LMBRD1	OMIM:277380
HP:0001627	Abnormal heart morphology	23483	TGDS	OMIM:616145
HP:0001627	Abnormal heart morphology	25970	SH2B1	ORPHA:261197
HP:0001627	Abnormal heart morphology	80781	COL18A1	ORPHA:1571
HP:0001627	Abnormal heart morphology	5062	PAK2	ORPHA:1571
HP:0001627	Abnormal heart morphology	375	ARF1	ORPHA:98892
HP:0001627	Abnormal heart morphology	4131	MAP1B	ORPHA:98892
HP:0001627	Abnormal heart morphology	23327	NEDD4L	ORPHA:98892
HP:0001627	Abnormal heart morphology	160418	TMTC3	ORPHA:98892
HP:0001627	Abnormal heart morphology	10564	ARFGEF2	ORPHA:98892
HP:0001627	Abnormal heart morphology	55780	ERMARD	ORPHA:98892
HP:0001627	Abnormal heart morphology	6609	SMPD1	ORPHA:77293
HP:0001627	Abnormal heart morphology	29940	DSE	ORPHA:2953
HP:0001627	Abnormal heart morphology	2588	GALNS	OMIM:253000
HP:0001627	Abnormal heart morphology	2990	GUSB	OMIM:253220
HP:0001627	Abnormal heart morphology	5604	MAP2K1	ORPHA:1340
HP:0001627	Abnormal heart morphology	1281	COL3A1	ORPHA:286
HP:0001627	Abnormal heart morphology	3764	KCNJ8	ORPHA:1517
HP:0001627	Abnormal heart morphology	54892	NCAPG2	OMIM:618460
HP:0001627	Abnormal heart morphology	27125	AFF4	ORPHA:444077
HP:0001627	Abnormal heart morphology	27125	AFF4	OMIM:616368
HP:0001627	Abnormal heart morphology	9578	CDC42BPB	OMIM:619841
HP:0001627	Abnormal heart morphology	29998	BICRA	OMIM:619325
HP:0001627	Abnormal heart morphology	5649	RELN	ORPHA:89844
HP:0001627	Abnormal heart morphology	10300	KATNB1	ORPHA:89844
HP:0001627	Abnormal heart morphology	51506	UFC1	OMIM:618076
HP:0001627	Abnormal heart morphology	55790	CSGALNACT1	OMIM:618870
HP:0001627	Abnormal heart morphology	3313	HSPA9	OMIM:616854
HP:0001627	Abnormal heart morphology	23291	FBXW11	OMIM:618914
HP:0001627	Abnormal heart morphology	7086	TKT	ORPHA:488618
HP:0001627	Abnormal heart morphology	7086	TKT	OMIM:617044
HP:0001627	Abnormal heart morphology	65082	VPS33A	ORPHA:505248
HP:0001627	Abnormal heart morphology	4001	LMNB1	OMIM:619179
HP:0001627	Abnormal heart morphology	51434	ANAPC7	OMIM:619699
HP:0001627	Abnormal heart morphology	5119	CHMP1A	OMIM:614961
HP:0001627	Abnormal heart morphology	201163	FLCN	OMIM:610883
HP:0001627	Abnormal heart morphology	51008	ASCC1	OMIM:616867
HP:0001627	Abnormal heart morphology	222663	SCUBE3	OMIM:619184
HP:0001627	Abnormal heart morphology	22884	WDR37	OMIM:618652
HP:0001627	Abnormal heart morphology	23028	KDM1A	ORPHA:477993
HP:0001627	Abnormal heart morphology	1656	DDX6	OMIM:618653
HP:0001627	Abnormal heart morphology	1301	COL11A1	OMIM:228520
HP:0001627	Abnormal heart morphology	8802	SUCLG1	ORPHA:17
HP:0001627	Abnormal heart morphology	1822	ATN1	OMIM:618494
HP:0001627	Abnormal heart morphology	55148	UBR7	OMIM:619189
HP:0001627	Abnormal heart morphology	6638	SNRPN	ORPHA:177907
HP:0001627	Abnormal heart morphology	6772	STAT1	ORPHA:391487
HP:0001627	Abnormal heart morphology	10043	TOM1	ORPHA:391487
HP:0001627	Abnormal heart morphology	1763	DNA2	OMIM:615156
HP:0001627	Abnormal heart morphology	23126	POGZ	OMIM:616364
HP:0001627	Abnormal heart morphology	11222	MRPL3	OMIM:614582
HP:0001627	Abnormal heart morphology	91461	PKDCC	OMIM:618821
HP:0001627	Abnormal heart morphology	10681	GNB5	OMIM:617182
HP:0001627	Abnormal heart morphology	10681	GNB5	ORPHA:542306
HP:0001627	Abnormal heart morphology	55617	TASP1	OMIM:618950
HP:0001627	Abnormal heart morphology	5500	PPP1CB	OMIM:617506
HP:0001627	Abnormal heart morphology	9739	SETD1A	OMIM:618832
HP:0001627	Abnormal heart morphology	7291	TWIST1	OMIM:617746
HP:0001627	Abnormal heart morphology	100506658	OCLN	OMIM:251290
HP:0001627	Abnormal heart morphology	79971	WLS	OMIM:619648
HP:0001627	Abnormal heart morphology	118924	FRA10AC1	OMIM:620113
HP:0001627	Abnormal heart morphology	10430	TMEM147	OMIM:620075
HP:0001627	Abnormal heart morphology	9968	MED12	OMIM:301068
HP:0001627	Abnormal heart morphology	775	CACNA1C	OMIM:601005
HP:0001627	Abnormal heart morphology	89970	RSPRY1	ORPHA:457395
HP:0001627	Abnormal heart morphology	57479	PRR12	OMIM:619539
HP:0001627	Abnormal heart morphology	5557	PRIM1	OMIM:620005
HP:0001627	Abnormal heart morphology	55901	THSD1	OMIM:620244
HP:0001627	Abnormal heart morphology	9896	FIG4	OMIM:216340
HP:0001627	Abnormal heart morphology	8295	TRRAP	OMIM:618454
HP:0001627	Abnormal heart morphology	54101	RIPK4	OMIM:263650
HP:0001627	Abnormal heart morphology	4281	MID1	ORPHA:2745
HP:0001627	Abnormal heart morphology	3480	IGF1R	OMIM:270450
HP:0001627	Abnormal heart morphology	57190	SELENON	ORPHA:324604
HP:0001627	Abnormal heart morphology	10617	STAMBP	OMIM:614261
HP:0001627	Abnormal heart morphology	79572	ATP13A3	OMIM:265400
HP:0001627	Abnormal heart morphology	8425	LTBP4	OMIM:613177
HP:0001627	Abnormal heart morphology	6439	SFTPB	ORPHA:217563
HP:0001627	Abnormal heart morphology	8604	SLC25A12	OMIM:612949
HP:0001627	Abnormal heart morphology	8291	DYSF	ORPHA:268
HP:0001627	Abnormal heart morphology	26276	VPS33B	OMIM:208085
HP:0001627	Abnormal heart morphology	659	BMPR2	OMIM:178600
HP:0001627	Abnormal heart morphology	8292	COLQ	ORPHA:98915
HP:0001627	Abnormal heart morphology	3913	LAMB2	ORPHA:98915
HP:0001627	Abnormal heart morphology	63894	VIPAS39	OMIM:613404
HP:0001627	Abnormal heart morphology	23129	PLXND1	ORPHA:3384
HP:0001627	Abnormal heart morphology	650	BMP2	OMIM:617877
HP:0001627	Abnormal heart morphology	490	ATP2B1	OMIM:619910
HP:0001627	Abnormal heart morphology	23389	MED13L	OMIM:616789
HP:0001627	Abnormal heart morphology	2218	FKTN	OMIM:253800
HP:0001627	Abnormal heart morphology	51715	RAB23	OMIM:201000
HP:0001627	Abnormal heart morphology	54870	QRICH1	OMIM:617982
HP:0001627	Abnormal heart morphology	2719	GPC3	OMIM:312870
HP:0001627	Abnormal heart morphology	2239	GPC4	OMIM:312870
HP:0001627	Abnormal heart morphology	26227	PHGDH	OMIM:256520
HP:0001627	Abnormal heart morphology	6448	SGSH	OMIM:252900
HP:0001627	Abnormal heart morphology	138050	HGSNAT	OMIM:252930
HP:0001627	Abnormal heart morphology	4669	NAGLU	OMIM:252920
HP:0001627	Abnormal heart morphology	859	CAV3	OMIM:192600
HP:0001627	Abnormal heart morphology	85366	MYLK2	OMIM:192600
HP:0001627	Abnormal heart morphology	2799	GNS	OMIM:252940
HP:0001627	Abnormal heart morphology	3192	HNRNPU	ORPHA:238769
HP:0001627	Abnormal heart morphology	894	CCND2	ORPHA:83473
HP:0001627	Abnormal heart morphology	5296	PIK3R2	ORPHA:83473
HP:0001627	Abnormal heart morphology	10000	AKT3	ORPHA:83473
HP:0001627	Abnormal heart morphology	64840	PORCN	ORPHA:2092
HP:0001627	Abnormal heart morphology	23556	PIGN	ORPHA:2059
HP:0001627	Abnormal heart morphology	25885	POLR1A	ORPHA:1200
HP:0001627	Abnormal heart morphology	10907	TXNL4A	ORPHA:1200
HP:0001627	Abnormal heart morphology	5590	PRKCZ	ORPHA:1606
HP:0001627	Abnormal heart morphology	2563	GABRD	ORPHA:1606
HP:0001627	Abnormal heart morphology	23013	SPEN	ORPHA:1606
HP:0001627	Abnormal heart morphology	8510	MMP23B	ORPHA:1606
HP:0001627	Abnormal heart morphology	7798	LUZP1	ORPHA:1606
HP:0001627	Abnormal heart morphology	6497	SKI	ORPHA:1606
HP:0001627	Abnormal heart morphology	10630	PDPN	ORPHA:1606
HP:0001627	Abnormal heart morphology	3339	HSPG2	ORPHA:1606
HP:0001627	Abnormal heart morphology	10277	UBE4B	ORPHA:1606
HP:0001627	Abnormal heart morphology	8514	KCNAB2	ORPHA:1606
HP:0001627	Abnormal heart morphology	473	RERE	ORPHA:1606
HP:0001627	Abnormal heart morphology	54897	CASZ1	ORPHA:1606
HP:0001627	Abnormal heart morphology	92002	CCNQ	ORPHA:140952
HP:0001627	Abnormal heart morphology	8085	KMT2D	ORPHA:2322
HP:0001627	Abnormal heart morphology	7403	KDM6A	ORPHA:2322
HP:0001627	Abnormal heart morphology	55690	PACS1	OMIM:615009
HP:0001627	Abnormal heart morphology	998	CDC42	OMIM:616737
HP:0001627	Abnormal heart morphology	6299	SALL1	ORPHA:857
HP:0001627	Abnormal heart morphology	51339	DACT1	ORPHA:857
HP:0001627	Abnormal heart morphology	9723	SEMA3E	ORPHA:138
HP:0001627	Abnormal heart morphology	6023	RMRP	ORPHA:175
HP:0001627	Abnormal heart morphology	9401	RECQL4	ORPHA:1225
HP:0001627	Abnormal heart morphology	50814	NSDHL	OMIM:308050
HP:0001627	Abnormal heart morphology	9939	RBM8A	ORPHA:3320
HP:0001627	Abnormal heart morphology	672	BRCA1	ORPHA:84
HP:0001627	Abnormal heart morphology	10459	MAD2L2	ORPHA:84
HP:0001627	Abnormal heart morphology	7516	XRCC2	ORPHA:84
HP:0001627	Abnormal heart morphology	29089	UBE2T	ORPHA:84
HP:0001627	Abnormal heart morphology	675	BRCA2	ORPHA:84
HP:0001627	Abnormal heart morphology	55120	FANCL	ORPHA:84
HP:0001627	Abnormal heart morphology	2177	FANCD2	ORPHA:84
HP:0001627	Abnormal heart morphology	2175	FANCA	ORPHA:84
HP:0001627	Abnormal heart morphology	2187	FANCB	ORPHA:84
HP:0001627	Abnormal heart morphology	2176	FANCC	ORPHA:84
HP:0001627	Abnormal heart morphology	2178	FANCE	ORPHA:84
HP:0001627	Abnormal heart morphology	2188	FANCF	ORPHA:84
HP:0001627	Abnormal heart morphology	2189	FANCG	ORPHA:84
HP:0001627	Abnormal heart morphology	5888	RAD51	ORPHA:84
HP:0001627	Abnormal heart morphology	5889	RAD51C	ORPHA:84
HP:0001627	Abnormal heart morphology	55159	RFWD3	ORPHA:84
HP:0001627	Abnormal heart morphology	83990	BRIP1	ORPHA:84
HP:0001627	Abnormal heart morphology	57697	FANCM	ORPHA:84
HP:0001627	Abnormal heart morphology	79728	PALB2	ORPHA:84
HP:0001627	Abnormal heart morphology	84464	SLX4	ORPHA:84
HP:0001627	Abnormal heart morphology	55215	FANCI	ORPHA:84
HP:0001627	Abnormal heart morphology	7080	NKX2-1	ORPHA:209905
HP:0001627	Abnormal heart morphology	3239	HOXD13	ORPHA:887
HP:0001627	Abnormal heart morphology	171023	ASXL1	ORPHA:97297
HP:0001627	Abnormal heart morphology	10815	CPLX1	ORPHA:280
HP:0001627	Abnormal heart morphology	54872	PIGG	ORPHA:280
HP:0001627	Abnormal heart morphology	7469	NELFA	ORPHA:280
HP:0001627	Abnormal heart morphology	1487	CTBP1	ORPHA:280
HP:0001627	Abnormal heart morphology	7468	NSD2	ORPHA:280
HP:0001627	Abnormal heart morphology	1760	DMPK	ORPHA:589821
HP:0001627	Abnormal heart morphology	4352	MPL	ORPHA:3319
HP:0001627	Abnormal heart morphology	7066	THPO	ORPHA:3319
HP:0001627	Abnormal heart morphology	389827	MYMK	OMIM:254940
HP:0001627	Abnormal heart morphology	8318	CDC45	OMIM:617063
HP:0001627	Abnormal heart morphology	7204	TRIO	ORPHA:476126
HP:0001627	Abnormal heart morphology	10265	IRX5	OMIM:611174
HP:0001627	Abnormal heart morphology	93	ACVR2B	OMIM:613751
HP:0001627	Abnormal heart morphology	27152	INTU	OMIM:617925
HP:0001627	Abnormal heart morphology	51057	WDPCP	OMIM:217085
HP:0001627	Abnormal heart morphology	9759	HDAC4	OMIM:600430
HP:0001627	Abnormal heart morphology	9184	BUB3	ORPHA:1052
HP:0001627	Abnormal heart morphology	699	BUB1	ORPHA:1052
HP:0001627	Abnormal heart morphology	9702	CEP57	ORPHA:1052
HP:0001627	Abnormal heart morphology	9702	CEP57	OMIM:614114
HP:0001627	Abnormal heart morphology	9319	TRIP13	ORPHA:1052
HP:0001627	Abnormal heart morphology	701	BUB1B	ORPHA:1052
HP:0001627	Abnormal heart morphology	127833	SYT2	OMIM:619461
HP:0001627	Abnormal heart morphology	91949	COG7	OMIM:608779
HP:0001627	Abnormal heart morphology	8294	H4C9	OMIM:619951
HP:0001627	Abnormal heart morphology	29081	METTL5	OMIM:618665
HP:0001627	Abnormal heart morphology	6135	RPL11	OMIM:612562
HP:0001627	Abnormal heart morphology	10765	KDM5B	OMIM:618109
HP:0001627	Abnormal heart morphology	132	ADK	OMIM:614300
HP:0001627	Abnormal heart morphology	8364	H4C3	OMIM:619758
HP:0001627	Abnormal heart morphology	256297	PTF1A	OMIM:609069
HP:0001627	Abnormal heart morphology	83475	DOHH	OMIM:620066
HP:0001627	Abnormal heart morphology	55027	HEATR3	OMIM:620072
HP:0001627	Abnormal heart morphology	79759	ZNF668	OMIM:620194
HP:0001627	Abnormal heart morphology	6472	SHMT2	OMIM:619121
HP:0001627	Abnormal heart morphology	80055	PGAP1	OMIM:615802
HP:0001627	Abnormal heart morphology	471	ATIC	OMIM:608688
HP:0001627	Abnormal heart morphology	3417	IDH1	ORPHA:99646
HP:0001627	Abnormal heart morphology	4763	NF1	OMIM:601321
HP:0001627	Abnormal heart morphology	11274	USP18	OMIM:617397
HP:0001627	Abnormal heart morphology	7994	KAT6A	OMIM:616268
HP:0001627	Abnormal heart morphology	9325	TRIP4	OMIM:616866
HP:0001627	Abnormal heart morphology	10079	ATP9A	OMIM:620242
HP:0001627	Abnormal heart morphology	4212	MEIS2	OMIM:600987
HP:0001627	Abnormal heart morphology	59336	PRDM13	OMIM:619909
HP:0001627	Abnormal heart morphology	5054	SERPINE1	ORPHA:465
HP:0001627	Abnormal heart morphology	7840	ALMS1	ORPHA:64
HP:0001627	Abnormal heart morphology	79600	TCTN1	ORPHA:475
HP:0001627	Abnormal heart morphology	79600	TCTN1	ORPHA:564
HP:0001627	Abnormal heart morphology	79848	CSPP1	ORPHA:475
HP:0001627	Abnormal heart morphology	79848	CSPP1	ORPHA:564
HP:0001627	Abnormal heart morphology	51684	SUFU	ORPHA:475
HP:0001627	Abnormal heart morphology	54806	AHI1	ORPHA:475
HP:0001627	Abnormal heart morphology	153241	CEP120	ORPHA:475
HP:0001627	Abnormal heart morphology	65250	CPLANE1	ORPHA:475
HP:0001627	Abnormal heart morphology	91147	TMEM67	ORPHA:475
HP:0001627	Abnormal heart morphology	91147	TMEM67	ORPHA:564
HP:0001627	Abnormal heart morphology	200894	ARL13B	ORPHA:475
HP:0001627	Abnormal heart morphology	9731	CEP104	ORPHA:475
HP:0001627	Abnormal heart morphology	219844	HYLS1	ORPHA:475
HP:0001627	Abnormal heart morphology	23247	KATNIP	ORPHA:475
HP:0001627	Abnormal heart morphology	219854	TMEM218	ORPHA:475
HP:0001627	Abnormal heart morphology	54903	MKS1	ORPHA:475
HP:0001627	Abnormal heart morphology	54903	MKS1	ORPHA:564
HP:0001627	Abnormal heart morphology	95681	CEP41	ORPHA:475
HP:0001627	Abnormal heart morphology	9786	KIAA0586	ORPHA:475
HP:0001627	Abnormal heart morphology	56623	INPP5E	ORPHA:475
HP:0001627	Abnormal heart morphology	79867	TCTN2	ORPHA:475
HP:0001627	Abnormal heart morphology	79867	TCTN2	ORPHA:564
HP:0001627	Abnormal heart morphology	80776	B9D2	ORPHA:475
HP:0001627	Abnormal heart morphology	80776	B9D2	ORPHA:564
HP:0001627	Abnormal heart morphology	10464	PIBF1	ORPHA:475
HP:0001627	Abnormal heart morphology	80210	ARMC9	ORPHA:475
HP:0001627	Abnormal heart morphology	23116	TOGARAM1	ORPHA:475
HP:0001627	Abnormal heart morphology	25776	CBY1	ORPHA:475
HP:0001627	Abnormal heart morphology	27077	B9D1	ORPHA:475
HP:0001627	Abnormal heart morphology	27077	B9D1	ORPHA:564
HP:0001627	Abnormal heart morphology	403	ARL3	ORPHA:475
HP:0001627	Abnormal heart morphology	65062	TMEM237	ORPHA:475
HP:0001627	Abnormal heart morphology	65062	TMEM237	ORPHA:564
HP:0001627	Abnormal heart morphology	5396	PRRX1	ORPHA:990
HP:0001627	Abnormal heart morphology	5396	PRRX1	OMIM:202650
HP:0001627	Abnormal heart morphology	5015	OTX2	ORPHA:990
HP:0001627	Abnormal heart morphology	5311	PKD2	OMIM:613095
HP:0001627	Abnormal heart morphology	23568	ARL2BP	OMIM:615434
HP:0001627	Abnormal heart morphology	55329	MNS1	OMIM:618948
HP:0001627	Abnormal heart morphology	54585	LZTFL1	OMIM:615994
HP:0001627	Abnormal heart morphology	4487	MSX1	ORPHA:199302
HP:0001627	Abnormal heart morphology	5818	NECTIN1	ORPHA:199302
HP:0001627	Abnormal heart morphology	8626	TP63	ORPHA:199302
HP:0001627	Abnormal heart morphology	3664	IRF6	ORPHA:199302
HP:0001627	Abnormal heart morphology	197131	UBR1	OMIM:243800
HP:0001627	Abnormal heart morphology	27031	NPHP3	OMIM:208540
HP:0001627	Abnormal heart morphology	27031	NPHP3	OMIM:267010
HP:0001627	Abnormal heart morphology	10991	SLC38A3	OMIM:619881
HP:0001627	Abnormal heart morphology	146845	CFAP52	OMIM:619607
HP:0001627	Abnormal heart morphology	10126	DNAL4	OMIM:616059
HP:0001627	Abnormal heart morphology	25914	RTTN	OMIM:614833
HP:0001627	Abnormal heart morphology	85452	CFAP74	OMIM:620197
HP:0001627	Abnormal heart morphology	8382	NME5	OMIM:620032
HP:0001627	Abnormal heart morphology	10084	PQBP1	OMIM:309500
HP:0001627	Abnormal heart morphology	10560	SLC19A2	OMIM:249270
HP:0001627	Abnormal heart morphology	23090	ZNF423	OMIM:614844
HP:0001627	Abnormal heart morphology	284086	NEK8	OMIM:615415
HP:0001627	Abnormal heart morphology	5566	PRKACA	ORPHA:289
HP:0001627	Abnormal heart morphology	5567	PRKACB	ORPHA:289
HP:0001627	Abnormal heart morphology	2735	GLI1	ORPHA:289
HP:0001627	Abnormal heart morphology	2121	EVC	ORPHA:289
HP:0001627	Abnormal heart morphology	51626	DYNC2LI1	ORPHA:289
HP:0001627	Abnormal heart morphology	132884	EVC2	ORPHA:289
HP:0001627	Abnormal heart morphology	84314	TMEM107	ORPHA:564
HP:0001627	Abnormal heart morphology	26123	TCTN3	ORPHA:564
HP:0001627	Abnormal heart morphology	57096	RPGRIP1	ORPHA:564
HP:0001627	Abnormal heart morphology	80184	CEP290	ORPHA:564
HP:0001627	Abnormal heart morphology	51259	TMEM216	ORPHA:564
HP:0001627	Abnormal heart morphology	57545	CC2D2A	ORPHA:564
HP:0001627	Abnormal heart morphology	79583	TMEM231	ORPHA:564
HP:0001627	Abnormal heart morphology	79770	TXNDC15	ORPHA:564
HP:0001627	Abnormal heart morphology	23322	RPGRIP1L	ORPHA:564
HP:0001627	Abnormal heart morphology	203286	ANKS6	OMIM:615382
HP:0001627	Abnormal heart morphology	123016	TTC8	OMIM:615985
HP:0001627	Abnormal heart morphology	84667	HES7	OMIM:613686
HP:0001627	Abnormal heart morphology	1954	MEGF8	OMIM:614976
HP:0001627	Abnormal heart morphology	27130	INVS	OMIM:602088
HP:0001627	Abnormal heart morphology	83483	PLVAP	OMIM:618183
HP:0001627	Abnormal heart morphology	3702	ITK	OMIM:613011
HP:0001627	Abnormal heart morphology	9508	ADAMTS3	ORPHA:2136
HP:0001627	Abnormal heart morphology	5784	PTPN14	OMIM:613611
HP:0001627	Abnormal heart morphology	25821	MTO1	OMIM:614702
HP:0001627	Abnormal heart morphology	6696	SPP1	ORPHA:93552
HP:0001627	Abnormal heart morphology	3654	IRAK1	ORPHA:93552
HP:0001627	Abnormal heart morphology	1776	DNASE1L3	ORPHA:36412
HP:0001627	Abnormal heart morphology	4089	SMAD4	OMIM:139210
HP:0001627	Abnormal heart morphology	2050	EPHB4	OMIM:617300
HP:0001627	Abnormal heart morphology	84162	BLTP1	OMIM:617822
HP:0001627	Abnormal heart morphology	64135	IFIH1	OMIM:615846
HP:0001627	Abnormal heart morphology	3954	LETM1	OMIM:620089
HP:0001627	Abnormal heart morphology	1130	LYST	ORPHA:167
HP:0001627	Abnormal heart morphology	37	ACADVL	ORPHA:26793
HP:0001627	Abnormal heart morphology	440275	EIF2AK4	ORPHA:199241
HP:0001627	Abnormal heart morphology	2629	GBA1	ORPHA:77261
HP:0001627	Abnormal heart morphology	2629	GBA1	ORPHA:77259
HP:0001627	Abnormal heart morphology	10203	CALCRL	OMIM:618773
HP:0001627	Abnormal heart morphology	7386	UQCRFS1	OMIM:618775
HP:0001627	Abnormal heart morphology	64072	CDH23	ORPHA:91347
HP:0001627	Abnormal heart morphology	165	AEBP1	ORPHA:536532
HP:0001627	Abnormal heart morphology	1188	CLCNKB	ORPHA:358
HP:0001627	Abnormal heart morphology	6559	SLC12A3	ORPHA:358
HP:0001627	Abnormal heart morphology	950	SCARB2	ORPHA:77259
HP:0001627	Abnormal heart morphology	3920	LAMP2	OMIM:300257
HP:0001627	Abnormal heart morphology	51119	SBDS	OMIM:260400
HP:0001627	Abnormal heart morphology	134218	DNAJC21	OMIM:260400
HP:0001627	Abnormal heart morphology	6729	SRP54	OMIM:260400
HP:0001627	Abnormal heart morphology	144811	LACC1	ORPHA:85414
HP:0001627	Abnormal heart morphology	4282	MIF	ORPHA:85414
HP:0001627	Abnormal heart morphology	3569	IL6	ORPHA:85414
HP:0001627	Abnormal heart morphology	3932	LCK	OMIM:615758
HP:0001627	Abnormal heart morphology	1493	CTLA4	ORPHA:900
HP:0001627	Abnormal heart morphology	1493	CTLA4	OMIM:152700
HP:0001627	Abnormal heart morphology	3115	HLA-DPB1	ORPHA:900
HP:0001627	Abnormal heart morphology	5657	PRTN3	ORPHA:900
HP:0001627	Abnormal heart morphology	3113	HLA-DPA1	ORPHA:900
HP:0001627	Abnormal heart morphology	4210	MEFV	ORPHA:342
HP:0001627	Abnormal heart morphology	4210	MEFV	OMIM:249100
HP:0001627	Abnormal heart morphology	4210	MEFV	ORPHA:117
HP:0001627	Abnormal heart morphology	4094	MAF	ORPHA:1272
HP:0001627	Abnormal heart morphology	4094	MAF	OMIM:601088
HP:0001627	Abnormal heart morphology	100147744	RNU7-1	OMIM:619487
HP:0001627	Abnormal heart morphology	10216	PRG4	ORPHA:2848
HP:0001627	Abnormal heart morphology	3662	IRF4	ORPHA:3452
HP:0001627	Abnormal heart morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001627	Abnormal heart morphology	5373	PMM2	ORPHA:79318
HP:0001627	Abnormal heart morphology	5373	PMM2	OMIM:212065
HP:0001627	Abnormal heart morphology	64127	NOD2	ORPHA:90340
HP:0001627	Abnormal heart morphology	64127	NOD2	OMIM:186580
HP:0001627	Abnormal heart morphology	64127	NOD2	OMIM:617321
HP:0001627	Abnormal heart morphology	2212	FCGR2A	OMIM:152700
HP:0001627	Abnormal heart morphology	2213	FCGR2B	OMIM:152700
HP:0001627	Abnormal heart morphology	11277	TREX1	OMIM:152700
HP:0001627	Abnormal heart morphology	1773	DNASE1	OMIM:152700
HP:0001627	Abnormal heart morphology	3039	HBA1	ORPHA:163596
HP:0001627	Abnormal heart morphology	3040	HBA2	ORPHA:163596
HP:0001627	Abnormal heart morphology	149233	IL23R	ORPHA:117
HP:0001627	Abnormal heart morphology	6775	STAT4	ORPHA:117
HP:0001627	Abnormal heart morphology	3586	IL10	ORPHA:117
HP:0001627	Abnormal heart morphology	1230	CCR1	ORPHA:117
HP:0001627	Abnormal heart morphology	355	FAS	ORPHA:117
HP:0001627	Abnormal heart morphology	3592	IL12A	ORPHA:117
HP:0001627	Abnormal heart morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001627	Abnormal heart morphology	7099	TLR4	ORPHA:117
HP:0001627	Abnormal heart morphology	3459	IFNGR1	ORPHA:117
HP:0001627	Abnormal heart morphology	720	C4A	ORPHA:117
HP:0001627	Abnormal heart morphology	337867	UBAC2	ORPHA:117
HP:0001627	Abnormal heart morphology	51752	ERAP1	ORPHA:117
HP:0001627	Abnormal heart morphology	8302	KLRC4	ORPHA:117
HP:0001627	Abnormal heart morphology	9897	WASHC5	ORPHA:7
HP:0001627	Abnormal heart morphology	28952	CCDC22	ORPHA:7
HP:0001627	Abnormal heart morphology	6197	RPS6KA3	ORPHA:192
HP:0001627	Abnormal heart morphology	3423	IDS	ORPHA:217085
HP:0001627	Abnormal heart morphology	3423	IDS	ORPHA:217093
HP:0001627	Abnormal heart morphology	55109	AGGF1	ORPHA:90308
HP:0001627	Abnormal heart morphology	64359	NXN	ORPHA:1507
HP:0001627	Abnormal heart morphology	4920	ROR2	ORPHA:1507
HP:0001627	Abnormal heart morphology	118856	MMP21	OMIM:616749
HP:0001627	Abnormal heart morphology	1277	COL1A1	ORPHA:287
HP:0001627	Abnormal heart morphology	1289	COL5A1	ORPHA:287
HP:0001627	Abnormal heart morphology	1290	COL5A2	ORPHA:287
HP:0001627	Abnormal heart morphology	7703	PCGF2	OMIM:618371
HP:0001627	Abnormal heart morphology	113189	CHST14	OMIM:601776
HP:0001627	Abnormal heart morphology	2200	FBN1	OMIM:154700
HP:0001627	Abnormal heart morphology	2200	FBN1	ORPHA:284979
HP:0001627	Abnormal heart morphology	2260	FGFR1	ORPHA:2396
HP:0001627	Abnormal heart morphology	3845	KRAS	ORPHA:2396
HP:0001627	Abnormal heart morphology	3845	KRAS	OMIM:609942
HP:0001627	Abnormal heart morphology	54539	NDUFB11	ORPHA:2556
HP:0001627	Abnormal heart morphology	1349	COX7B	ORPHA:2556
HP:0001627	Abnormal heart morphology	3052	HCCS	ORPHA:2556
HP:0001627	Abnormal heart morphology	6901	TAFAZZIN	ORPHA:111
HP:0001627	Abnormal heart morphology	6901	TAFAZZIN	OMIM:302060
HP:0001627	Abnormal heart morphology	2702	GJA5	OMIM:108770
HP:0001627	Abnormal heart morphology	57538	ALPK3	OMIM:618052
HP:0001627	Abnormal heart morphology	88	ACTN2	OMIM:612158
HP:0001627	Abnormal heart morphology	3425	IDUA	OMIM:607014
HP:0001627	Abnormal heart morphology	3425	IDUA	ORPHA:93473
HP:0001627	Abnormal heart morphology	8048	CSRP3	OMIM:607482
HP:0001627	Abnormal heart morphology	6584	SLC22A5	OMIM:212140
HP:0001627	Abnormal heart morphology	9158	FIBP	ORPHA:500095
HP:0001627	Abnormal heart morphology	79813	EHMT1	OMIM:610253
HP:0001627	Abnormal heart morphology	79813	EHMT1	ORPHA:96147
HP:0001627	Abnormal heart morphology	7490	WT1	ORPHA:3097
HP:0001627	Abnormal heart morphology	4088	SMAD3	ORPHA:284984
HP:0001627	Abnormal heart morphology	4088	SMAD3	OMIM:613795
HP:0001627	Abnormal heart morphology	274	BIN1	ORPHA:169186
HP:0001627	Abnormal heart morphology	10290	SPEG	ORPHA:169186
HP:0001627	Abnormal heart morphology	6261	RYR1	ORPHA:169186
HP:0001627	Abnormal heart morphology	7273	TTN	ORPHA:169186
HP:0001627	Abnormal heart morphology	291	SLC25A4	ORPHA:254892
HP:0001627	Abnormal heart morphology	291	SLC25A4	OMIM:615418
HP:0001627	Abnormal heart morphology	5428	POLG	ORPHA:254892
HP:0001627	Abnormal heart morphology	56652	TWNK	ORPHA:254892
HP:0001627	Abnormal heart morphology	11232	POLG2	ORPHA:254892
HP:0001627	Abnormal heart morphology	50484	RRM2B	ORPHA:254892
HP:0001627	Abnormal heart morphology	10128	LRPPRC	OMIM:220111
HP:0001627	Abnormal heart morphology	8216	LZTR1	OMIM:616564
HP:0001627	Abnormal heart morphology	776	CACNA1D	OMIM:615474
HP:0001627	Abnormal heart morphology	5663	PSEN1	OMIM:613694
HP:0001627	Abnormal heart morphology	6016	RIT1	OMIM:615355
HP:0001627	Abnormal heart morphology	5664	PSEN2	OMIM:613697
HP:0001627	Abnormal heart morphology	19	ABCA1	OMIM:205400
HP:0001627	Abnormal heart morphology	19	ABCA1	ORPHA:31150
HP:0001627	Abnormal heart morphology	57539	WDR35	OMIM:613610
HP:0001627	Abnormal heart morphology	4720	NDUFS2	OMIM:618228
HP:0001627	Abnormal heart morphology	51343	FZR1	OMIM:620145
HP:0001627	Abnormal heart morphology	10159	ATP6AP2	ORPHA:93952
HP:0001627	Abnormal heart morphology	6840	SVIL	OMIM:619040
HP:0001627	Abnormal heart morphology	10021	HCN4	OMIM:163800
HP:0001627	Abnormal heart morphology	51218	GLRX5	ORPHA:401866
HP:0001627	Abnormal heart morphology	1837	DTNA	OMIM:604169
HP:0001627	Abnormal heart morphology	6341	SCO1	OMIM:619048
HP:0001627	Abnormal heart morphology	1278	COL1A2	ORPHA:230851
HP:0001627	Abnormal heart morphology	83715	ESPN	OMIM:618632
HP:0001627	Abnormal heart morphology	6392	SDHD	OMIM:619167
HP:0001627	Abnormal heart morphology	6392	SDHD	ORPHA:3208
HP:0001627	Abnormal heart morphology	10229	COQ7	OMIM:616733
HP:0001627	Abnormal heart morphology	54931	TRMT10C	OMIM:616974
HP:0001627	Abnormal heart morphology	6868	ADAM17	ORPHA:294023
HP:0001627	Abnormal heart morphology	1956	EGFR	ORPHA:294023
HP:0001627	Abnormal heart morphology	79158	GNPTAB	ORPHA:576
HP:0001627	Abnormal heart morphology	4512	MT-CO1	OMIM:540000
HP:0001627	Abnormal heart morphology	4513	MT-CO2	OMIM:540000
HP:0001627	Abnormal heart morphology	4514	MT-CO3	OMIM:540000
HP:0001627	Abnormal heart morphology	4519	MT-CYB	OMIM:540000
HP:0001627	Abnormal heart morphology	4511	MT-TC	OMIM:540000
HP:0001627	Abnormal heart morphology	4574	MT-TS1	OMIM:540000
HP:0001627	Abnormal heart morphology	4575	MT-TS2	OMIM:540000
HP:0001627	Abnormal heart morphology	4558	MT-TF	OMIM:540000
HP:0001627	Abnormal heart morphology	4541	MT-ND6	OMIM:540000
HP:0001627	Abnormal heart morphology	4567	MT-TL1	OMIM:540000
HP:0001627	Abnormal heart morphology	4540	MT-ND5	OMIM:540000
HP:0001627	Abnormal heart morphology	4566	MT-TK	OMIM:540000
HP:0001627	Abnormal heart morphology	4535	MT-ND1	OMIM:540000
HP:0001627	Abnormal heart morphology	4572	MT-TQ	OMIM:540000
HP:0001627	Abnormal heart morphology	4577	MT-TV	OMIM:540000
HP:0001627	Abnormal heart morphology	4578	MT-TW	OMIM:540000
HP:0001627	Abnormal heart morphology	153642	ARSK	OMIM:619698
HP:0001627	Abnormal heart morphology	5350	PLN	OMIM:613874
HP:0001627	Abnormal heart morphology	84100	ARL6	OMIM:209900
HP:0001627	Abnormal heart morphology	79140	CCDC28B	OMIM:209900
HP:0001627	Abnormal heart morphology	582	BBS1	OMIM:209900
HP:0001627	Abnormal heart morphology	708	C1QBP	OMIM:617713
HP:0001627	Abnormal heart morphology	91624	NEXN	OMIM:613876
HP:0001627	Abnormal heart morphology	1201	CLN3	ORPHA:228346
HP:0001627	Abnormal heart morphology	2717	GLA	ORPHA:324
HP:0001627	Abnormal heart morphology	2717	GLA	OMIM:301500
HP:0001627	Abnormal heart morphology	3291	HSD11B2	ORPHA:320
HP:0001627	Abnormal heart morphology	4015	LOX	OMIM:617168
HP:0001627	Abnormal heart morphology	27010	TPK1	OMIM:614458
HP:0001627	Abnormal heart morphology	51241	COX16	OMIM:619355
HP:0001627	Abnormal heart morphology	4624	MYH6	OMIM:613251
HP:0001627	Abnormal heart morphology	29957	SLC25A24	OMIM:612289
HP:0001627	Abnormal heart morphology	8557	TCAP	OMIM:607487
HP:0001627	Abnormal heart morphology	3032	HADHB	ORPHA:746
HP:0001627	Abnormal heart morphology	3030	HADHA	ORPHA:746
HP:0001627	Abnormal heart morphology	9049	AIP	OMIM:102200
HP:0001627	Abnormal heart morphology	9049	AIP	ORPHA:99725
HP:0001627	Abnormal heart morphology	2548	GAA	ORPHA:308552
HP:0001627	Abnormal heart morphology	10585	POMT1	ORPHA:86812
HP:0001627	Abnormal heart morphology	10651	MTX2	OMIM:619127
HP:0001627	Abnormal heart morphology	7841	MOGS	ORPHA:79330
HP:0001627	Abnormal heart morphology	4221	MEN1	ORPHA:99725
HP:0001627	Abnormal heart morphology	11155	LDB3	OMIM:601493
HP:0001627	Abnormal heart morphology	57724	EPG5	OMIM:242840
HP:0001627	Abnormal heart morphology	55739	NAXD	OMIM:618321
HP:0001627	Abnormal heart morphology	79147	FKRP	OMIM:613153
HP:0001627	Abnormal heart morphology	29954	POMT2	OMIM:613156
HP:0001627	Abnormal heart morphology	6389	SDHA	ORPHA:3208
HP:0001627	Abnormal heart morphology	6390	SDHB	ORPHA:3208
HP:0001627	Abnormal heart morphology	644096	SDHAF1	ORPHA:3208
HP:0001627	Abnormal heart morphology	51778	MYOZ2	OMIM:613838
HP:0001627	Abnormal heart morphology	9469	CHST3	OMIM:245600
HP:0001627	Abnormal heart morphology	26229	B3GAT3	OMIM:245600
HP:0001627	Abnormal heart morphology	57017	COQ9	OMIM:614654
HP:0001627	Abnormal heart morphology	57592	ZNF687	OMIM:616833
HP:0001627	Abnormal heart morphology	1756	DMD	ORPHA:206546
HP:0001627	Abnormal heart morphology	3762	KCNJ5	ORPHA:251274
HP:0001627	Abnormal heart morphology	58499	ZNF462	OMIM:618619
HP:0001627	Abnormal heart morphology	84705	GTPBP3	ORPHA:444013
HP:0001627	Abnormal heart morphology	1340	COX6B1	OMIM:619051
HP:0001627	Abnormal heart morphology	51322	WAC	ORPHA:284169
HP:0001627	Abnormal heart morphology	6444	SGCD	OMIM:601287
HP:0001627	Abnormal heart morphology	286053	NSMCE2	OMIM:617253
HP:0001627	Abnormal heart morphology	81031	SLC2A10	OMIM:208050
HP:0001627	Abnormal heart morphology	178	AGL	OMIM:232400
HP:0001627	Abnormal heart morphology	6125	RPL5	OMIM:612561
HP:0001627	Abnormal heart morphology	788	SLC25A20	OMIM:212138
HP:0001627	Abnormal heart morphology	1376	CPT2	ORPHA:228305
HP:0001627	Abnormal heart morphology	4000	LMNA	ORPHA:740
HP:0001627	Abnormal heart morphology	4000	LMNA	ORPHA:363618
HP:0001627	Abnormal heart morphology	10269	ZMPSTE24	ORPHA:740
HP:0001627	Abnormal heart morphology	374354	NHLRC2	OMIM:618278
HP:0001627	Abnormal heart morphology	2992	GYG1	ORPHA:263297
HP:0001627	Abnormal heart morphology	83550	GPR101	OMIM:300942
HP:0001627	Abnormal heart morphology	6909	TBX2	OMIM:618223
HP:0001627	Abnormal heart morphology	23007	PLCH1	OMIM:619895
HP:0001627	Abnormal heart morphology	84231	TRAF7	OMIM:618164
HP:0001627	Abnormal heart morphology	9487	PIGL	OMIM:280000
HP:0001627	Abnormal heart morphology	4087	SMAD2	OMIM:619657
HP:0001627	Abnormal heart morphology	140628	GATA5	OMIM:617912
HP:0001627	Abnormal heart morphology	5824	PEX19	OMIM:614886
HP:0001627	Abnormal heart morphology	55191	NADSYN1	OMIM:618845
HP:0001627	Abnormal heart morphology	526	ATP6V1B2	ORPHA:79500
HP:0001627	Abnormal heart morphology	57465	TBC1D24	ORPHA:79500
HP:0001627	Abnormal heart morphology	9451	EIF2AK3	ORPHA:1667
HP:0001627	Abnormal heart morphology	4851	NOTCH1	OMIM:109730
HP:0001627	Abnormal heart morphology	55593	OTUD5	OMIM:301056
HP:0001627	Abnormal heart morphology	4313	MMP2	ORPHA:371428
HP:0001627	Abnormal heart morphology	4323	MMP14	ORPHA:371428
HP:0001627	Abnormal heart morphology	10743	RAI1	ORPHA:477817
HP:0001627	Abnormal heart morphology	54880	BCOR	OMIM:300166
HP:0001627	Abnormal heart morphology	285590	SH3PXD2B	OMIM:249420
HP:0001627	Abnormal heart morphology	220136	CFAP53	OMIM:614779
HP:0001627	Abnormal heart morphology	7319	UBE2A	ORPHA:163956
HP:0001627	Abnormal heart morphology	9772	TMEM94	OMIM:618316
HP:0001627	Abnormal heart morphology	137814	NKX2-6	OMIM:217095
HP:0001627	Abnormal heart morphology	1482	NKX2-5	OMIM:217095
HP:0001627	Abnormal heart morphology	5053	PAH	ORPHA:2209
HP:0001627	Abnormal heart morphology	7137	TNNI3	OMIM:115210
HP:0001627	Abnormal heart morphology	10112	KIF20A	OMIM:619433
HP:0001627	Abnormal heart morphology	64131	XYLT1	OMIM:264800
HP:0001627	Abnormal heart morphology	64132	XYLT2	OMIM:264800
HP:0001627	Abnormal heart morphology	368	ABCC6	OMIM:264800
HP:0001627	Abnormal heart morphology	368	ABCC6	ORPHA:758
HP:0001627	Abnormal heart morphology	55388	MCM10	OMIM:619313
HP:0001627	Abnormal heart morphology	4633	MYL2	OMIM:619424
HP:0001627	Abnormal heart morphology	1062	CENPE	OMIM:616051
HP:0001627	Abnormal heart morphology	51604	PIGT	OMIM:615398
HP:0001627	Abnormal heart morphology	51604	PIGT	ORPHA:369837
HP:0001627	Abnormal heart morphology	1674	DES	OMIM:601419
HP:0001627	Abnormal heart morphology	2316	FLNA	ORPHA:88630
HP:0001627	Abnormal heart morphology	7276	TTR	ORPHA:85451
HP:0001627	Abnormal heart morphology	70	ACTC1	OMIM:613424
HP:0001627	Abnormal heart morphology	7139	TNNT2	OMIM:612422
HP:0001627	Abnormal heart morphology	5167	ENPP1	ORPHA:758
HP:0001627	Abnormal heart morphology	5156	PDGFRA	OMIM:607685
HP:0001627	Abnormal heart morphology	9531	BAG3	OMIM:612954
HP:0001627	Abnormal heart morphology	4634	MYL3	OMIM:608751
HP:0001627	Abnormal heart morphology	2038	EPB42	ORPHA:822
HP:0001627	Abnormal heart morphology	6521	SLC4A1	ORPHA:822
HP:0001627	Abnormal heart morphology	6710	SPTB	ORPHA:822
HP:0001627	Abnormal heart morphology	6708	SPTA1	ORPHA:822
HP:0001627	Abnormal heart morphology	286	ANK1	ORPHA:822
HP:0001627	Abnormal heart morphology	6496	SIX3	OMIM:157170
HP:0001627	Abnormal heart morphology	1146	CHRNG	OMIM:253290
HP:0001627	Abnormal heart morphology	1144	CHRND	OMIM:253290
HP:0001627	Abnormal heart morphology	1134	CHRNA1	OMIM:253290
HP:0001627	Abnormal heart morphology	84818	IL17RC	ORPHA:1334
HP:0001627	Abnormal heart morphology	64581	CLEC7A	ORPHA:1334
HP:0001627	Abnormal heart morphology	23765	IL17RA	ORPHA:1334
HP:0001627	Abnormal heart morphology	10758	TRAF3IP2	ORPHA:1334
HP:0001627	Abnormal heart morphology	112744	IL17F	ORPHA:1334
HP:0001627	Abnormal heart morphology	6804	STX1A	ORPHA:904
HP:0001627	Abnormal heart morphology	7461	CLIP2	ORPHA:904
HP:0001627	Abnormal heart morphology	84277	DNAJC30	ORPHA:904
HP:0001627	Abnormal heart morphology	8468	FKBP6	ORPHA:904
HP:0001627	Abnormal heart morphology	5982	RFC2	ORPHA:904
HP:0001627	Abnormal heart morphology	2969	GTF2I	ORPHA:904
HP:0001627	Abnormal heart morphology	3984	LIMK1	ORPHA:904
HP:0001627	Abnormal heart morphology	9569	GTF2IRD1	ORPHA:904
HP:0001627	Abnormal heart morphology	155382	VPS37D	ORPHA:904
HP:0001627	Abnormal heart morphology	155368	METTL27	ORPHA:904
HP:0001627	Abnormal heart morphology	114049	BUD23	ORPHA:904
HP:0001627	Abnormal heart morphology	7458	EIF4H	ORPHA:904
HP:0001627	Abnormal heart morphology	84163	GTF2IRD2	ORPHA:904
HP:0001627	Abnormal heart morphology	9275	BCL7B	ORPHA:904
HP:0001627	Abnormal heart morphology	26608	TBL2	ORPHA:904
HP:0001627	Abnormal heart morphology	653361	NCF1	ORPHA:904
HP:0001627	Abnormal heart morphology	135886	TMEM270	ORPHA:904
HP:0001627	Abnormal heart morphology	51085	MLXIPL	ORPHA:904
HP:0001627	Abnormal heart morphology	9031	BAZ1B	ORPHA:904
HP:0001627	Abnormal heart morphology	2006	ELN	ORPHA:904
HP:0001627	Abnormal heart morphology	3593	IL12B	ORPHA:3287
HP:0001627	Abnormal heart morphology	6945	MLX	ORPHA:3287
HP:0001627	Abnormal heart morphology	5781	PTPN11	ORPHA:500
HP:0001627	Abnormal heart morphology	673	BRAF	ORPHA:500
HP:0001627	Abnormal heart morphology	5894	RAF1	ORPHA:500
HP:0001627	Abnormal heart morphology	63895	PIEZO2	ORPHA:2461
HP:0001627	Abnormal heart morphology	23586	RIGI	OMIM:616298
HP:0001627	Abnormal heart morphology	3081	HGD	ORPHA:56
HP:0001627	Abnormal heart morphology	3081	HGD	OMIM:203500
HP:0001627	Abnormal heart morphology	10568	SLC34A2	ORPHA:60025
HP:0001627	Abnormal heart morphology	6910	TBX5	ORPHA:392
HP:0001627	Abnormal heart morphology	6910	TBX5	OMIM:142900
HP:0001627	Abnormal heart morphology	7026	NR2F2	OMIM:618901
HP:0001627	Abnormal heart morphology	7026	NR2F2	OMIM:615779
HP:0001627	Abnormal heart morphology	1387	CREBBP	OMIM:180849
HP:0001627	Abnormal heart morphology	2033	EP300	OMIM:180849
HP:0001627	Abnormal heart morphology	11020	IFT27	OMIM:615996
HP:0001627	Abnormal heart morphology	1024	CDK8	OMIM:618748
HP:0001627	Abnormal heart morphology	57514	ARHGAP31	OMIM:100300
HP:0001627	Abnormal heart morphology	8405	SPOP	OMIM:618829
HP:0001627	Abnormal heart morphology	23498	HAAO	OMIM:617660
HP:0001627	Abnormal heart morphology	3021	H3-3B	OMIM:619721
HP:0001627	Abnormal heart morphology	8942	KYNU	OMIM:617661
HP:0001627	Abnormal heart morphology	2697	GJA1	ORPHA:2248
HP:0001627	Abnormal heart morphology	4091	SMAD6	ORPHA:402075
HP:0001627	Abnormal heart morphology	8195	MKKS	ORPHA:2473
HP:0001627	Abnormal heart morphology	51117	COQ4	OMIM:616276
HP:0001627	Abnormal heart morphology	2313	FLI1	ORPHA:2308
HP:0001627	Abnormal heart morphology	23118	TAB2	OMIM:614980
HP:0001627	Abnormal heart morphology	10060	ABCC9	OMIM:239850
HP:0001627	Abnormal heart morphology	4591	TRIM37	OMIM:253250
HP:0001627	Abnormal heart morphology	79796	ALG9	ORPHA:79328
HP:0001627	Abnormal heart morphology	57057	TBX20	ORPHA:99103
HP:0001627	Abnormal heart morphology	10370	CITED2	ORPHA:99103
HP:0001627	Abnormal heart morphology	10370	CITED2	ORPHA:99105
HP:0001627	Abnormal heart morphology	60684	TRAPPC11	ORPHA:369840
HP:0001627	Abnormal heart morphology	60684	TRAPPC11	ORPHA:369847
HP:0001627	Abnormal heart morphology	96459	FNIP1	OMIM:619705
HP:0001627	Abnormal heart morphology	1000	CDH2	OMIM:618920
HP:0001627	Abnormal heart morphology	6445	SGCG	OMIM:253700
HP:0001627	Abnormal heart morphology	29119	CTNNA3	OMIM:615616
HP:0001627	Abnormal heart morphology	2324	FLT4	OMIM:618780
HP:0001627	Abnormal heart morphology	5605	MAP2K2	OMIM:615280
HP:0001627	Abnormal heart morphology	221496	LEMD2	OMIM:619322
HP:0001627	Abnormal heart morphology	26580	BSCL2	OMIM:269700
HP:0001627	Abnormal heart morphology	123263	MTFMT	OMIM:614947
HP:0001627	Abnormal heart morphology	23345	SYNE1	OMIM:612998
HP:0001627	Abnormal heart morphology	374654	KIF7	OMIM:200990
HP:0001627	Abnormal heart morphology	5915	RARB	OMIM:615524
HP:0001627	Abnormal heart morphology	64220	STRA6	OMIM:601186
HP:0001627	Abnormal heart morphology	4724	NDUFS4	OMIM:252010
HP:0001627	Abnormal heart morphology	7134	TNNC1	OMIM:613243
HP:0001627	Abnormal heart morphology	4538	MT-ND4	ORPHA:550
HP:0001627	Abnormal heart morphology	4564	MT-TH	ORPHA:550
HP:0001627	Abnormal heart morphology	10102	TSFM	OMIM:610505
HP:0001627	Abnormal heart morphology	1654	DDX3X	OMIM:300958
HP:0001627	Abnormal heart morphology	10524	KAT5	OMIM:619103
HP:0001627	Abnormal heart morphology	374879	ZNF699	OMIM:619488
HP:0001627	Abnormal heart morphology	11128	POLR3A	ORPHA:3455
HP:0001627	Abnormal heart morphology	22827	PUF60	ORPHA:508488
HP:0001627	Abnormal heart morphology	4784	NFIX	OMIM:602535
HP:0001627	Abnormal heart morphology	171019	ADAMTS19	OMIM:620067
HP:0001627	Abnormal heart morphology	7046	TGFBR1	OMIM:609192
HP:0001627	Abnormal heart morphology	145173	B3GLCT	ORPHA:709
HP:0001627	Abnormal heart morphology	79633	FAT4	OMIM:616006
HP:0001627	Abnormal heart morphology	147372	CCBE1	OMIM:235510
HP:0001627	Abnormal heart morphology	3431	SP110	OMIM:235550
HP:0001627	Abnormal heart morphology	5573	PRKAR1A	ORPHA:615
HP:0001627	Abnormal heart morphology	5573	PRKAR1A	OMIM:255960
HP:0001627	Abnormal heart morphology	3949	LDLR	ORPHA:391665
HP:0001627	Abnormal heart morphology	255738	PCSK9	ORPHA:391665
HP:0001627	Abnormal heart morphology	26119	LDLRAP1	ORPHA:391665
HP:0001627	Abnormal heart morphology	338	APOB	ORPHA:391665
HP:0001627	Abnormal heart morphology	64240	ABCG5	ORPHA:391665
HP:0001627	Abnormal heart morphology	64241	ABCG8	ORPHA:391665
HP:0001627	Abnormal heart morphology	2737	GLI3	ORPHA:672
HP:0001627	Abnormal heart morphology	9361	LONP1	OMIM:600373
HP:0001627	Abnormal heart morphology	11198	SUPT16H	OMIM:619480
HP:0001627	Abnormal heart morphology	90416	CCDC32	OMIM:619123
HP:0001627	Abnormal heart morphology	1717	DHCR7	ORPHA:818
HP:0001627	Abnormal heart morphology	78987	CRELD1	OMIM:606217
HP:0001627	Abnormal heart morphology	57020	VPS35L	OMIM:619135
HP:0001627	Abnormal heart morphology	50619	DEF6	OMIM:619573
HP:0001627	Abnormal heart morphology	23522	KAT6B	ORPHA:3047
HP:0001627	Abnormal heart morphology	4750	NEK1	ORPHA:2751
HP:0001627	Abnormal heart morphology	5587	PRKD1	OMIM:617364
HP:0001627	Abnormal heart morphology	10516	FBLN5	ORPHA:90348
HP:0001627	Abnormal heart morphology	10516	FBLN5	ORPHA:90349
HP:0001627	Abnormal heart morphology	5832	ALDH18A1	ORPHA:90348
HP:0001627	Abnormal heart morphology	4052	LTBP1	ORPHA:90349
HP:0001627	Abnormal heart morphology	30008	EFEMP2	ORPHA:90349
HP:0001627	Abnormal heart morphology	54820	NDE1	ORPHA:2177
HP:0001627	Abnormal heart morphology	29925	GMPPB	ORPHA:363623
HP:0001627	Abnormal heart morphology	6134	RPL10	ORPHA:459070
HP:0001627	Abnormal heart morphology	1193	CLIC2	ORPHA:324410
HP:0001627	Abnormal heart morphology	3458	IFNG	OMIM:613254
HP:0001627	Abnormal heart morphology	3458	IFNG	ORPHA:805
HP:0001627	Abnormal heart morphology	55553	SOX6	OMIM:618971
HP:0001627	Abnormal heart morphology	57158	JPH2	OMIM:619492
HP:0001627	Abnormal heart morphology	7528	YY1	ORPHA:506358
HP:0001627	Abnormal heart morphology	4841	NONO	ORPHA:466791
HP:0001627	Abnormal heart morphology	4625	MYH7	ORPHA:1880
HP:0001627	Abnormal heart morphology	4625	MYH7	OMIM:613426
HP:0001627	Abnormal heart morphology	2623	GATA1	OMIM:190685
HP:0001627	Abnormal heart morphology	7168	TPM1	OMIM:611878
HP:0001627	Abnormal heart morphology	158326	FREM1	OMIM:608980
HP:0001627	Abnormal heart morphology	25790	CFAP45	OMIM:619608
HP:0001627	Abnormal heart morphology	2072	ERCC4	OMIM:615272
HP:0001627	Abnormal heart morphology	79989	IFT56	OMIM:619534
HP:0001627	Abnormal heart morphology	2626	GATA4	OMIM:614430
HP:0001627	Abnormal heart morphology	5727	PTCH1	ORPHA:77301
HP:0001627	Abnormal heart morphology	5727	PTCH1	OMIM:109400
HP:0001627	Abnormal heart morphology	92579	G6PC3	OMIM:612541
HP:0001627	Abnormal heart morphology	5422	POLA1	OMIM:301030
HP:0001627	Abnormal heart morphology	523	ATP6V1A	OMIM:617403
HP:0001627	Abnormal heart morphology	1857	DVL3	OMIM:616894
HP:0001627	Abnormal heart morphology	348180	CTU2	OMIM:618142
HP:0001627	Abnormal heart morphology	7547	ZIC3	OMIM:306955
HP:0001627	Abnormal heart morphology	4838	NODAL	OMIM:270100
HP:0001627	Abnormal heart morphology	2657	GDF1	OMIM:208530
HP:0001627	Abnormal heart morphology	55997	CFC1	OMIM:605376
HP:0001627	Abnormal heart morphology	25981	DNAH1	ORPHA:244
HP:0001627	Abnormal heart morphology	115948	ODAD3	ORPHA:244
HP:0001627	Abnormal heart morphology	54768	HYDIN	ORPHA:244
HP:0001627	Abnormal heart morphology	352909	DNAAF3	ORPHA:244
HP:0001627	Abnormal heart morphology	27148	STK36	ORPHA:244
HP:0001627	Abnormal heart morphology	51314	NME8	ORPHA:244
HP:0001627	Abnormal heart morphology	92749	DRC1	ORPHA:244
HP:0001627	Abnormal heart morphology	54970	TTC12	ORPHA:244
HP:0001627	Abnormal heart morphology	152110	NEK10	ORPHA:244
HP:0001627	Abnormal heart morphology	8481	OFD1	ORPHA:244
HP:0001627	Abnormal heart morphology	2302	FOXJ1	ORPHA:244
HP:0001627	Abnormal heart morphology	221421	RSPH9	ORPHA:244
HP:0001627	Abnormal heart morphology	85478	CCDC65	ORPHA:244
HP:0001627	Abnormal heart morphology	55036	CCDC40	ORPHA:244
HP:0001627	Abnormal heart morphology	51364	ZMYND10	ORPHA:244
HP:0001627	Abnormal heart morphology	64446	DNAI2	ORPHA:244
HP:0001627	Abnormal heart morphology	6674	SPAG1	ORPHA:244
HP:0001627	Abnormal heart morphology	83544	DNAL1	ORPHA:244
HP:0001627	Abnormal heart morphology	89765	RSPH1	ORPHA:244
HP:0001627	Abnormal heart morphology	83538	ODAD4	ORPHA:244
HP:0001627	Abnormal heart morphology	200373	CFAP221	ORPHA:244
HP:0001627	Abnormal heart morphology	374407	DNAJB13	ORPHA:244
HP:0001627	Abnormal heart morphology	55172	DNAAF2	ORPHA:244
HP:0001627	Abnormal heart morphology	161582	DNAAF4	ORPHA:244
HP:0001627	Abnormal heart morphology	2622	GAS8	ORPHA:244
HP:0001627	Abnormal heart morphology	23639	DNAAF11	ORPHA:244
HP:0001627	Abnormal heart morphology	27019	DNAI1	ORPHA:244
HP:0001627	Abnormal heart morphology	345895	RSPH4A	ORPHA:244
HP:0001627	Abnormal heart morphology	54919	DNAAF5	ORPHA:244
HP:0001627	Abnormal heart morphology	6103	RPGR	ORPHA:244
HP:0001627	Abnormal heart morphology	388389	CCDC103	ORPHA:244
HP:0001627	Abnormal heart morphology	93233	ODAD1	ORPHA:244
HP:0001627	Abnormal heart morphology	55130	ODAD2	ORPHA:244
HP:0001627	Abnormal heart morphology	1767	DNAH5	ORPHA:244
HP:0001627	Abnormal heart morphology	83861	RSPH3	ORPHA:244
HP:0001627	Abnormal heart morphology	345643	MCIDAS	ORPHA:244
HP:0001627	Abnormal heart morphology	56683	CFAP298	ORPHA:244
HP:0001627	Abnormal heart morphology	79925	SPEF2	ORPHA:244
HP:0001627	Abnormal heart morphology	10309	CCNO	ORPHA:244
HP:0001627	Abnormal heart morphology	115399	LRRC56	ORPHA:244
HP:0001627	Abnormal heart morphology	139212	DNAAF6	ORPHA:244
HP:0001627	Abnormal heart morphology	123872	DNAAF1	ORPHA:244
HP:0001627	Abnormal heart morphology	85016	CFAP300	ORPHA:244
HP:0001627	Abnormal heart morphology	339829	CCDC39	ORPHA:244
HP:0001627	Abnormal heart morphology	8701	DNAH11	ORPHA:244
HP:0001627	Abnormal heart morphology	1770	DNAH9	ORPHA:244
HP:0001627	Abnormal heart morphology	246176	GAS2L2	ORPHA:244
HP:0001627	Abnormal heart morphology	168507	PKD1L1	OMIM:617205
HP:0001627	Abnormal heart morphology	100128908	CIROP	OMIM:619702
HP:0001627	Abnormal heart morphology	8550	MAPKAPK5	OMIM:619869
HP:0001627	Abnormal heart morphology	10847	SRCAP	ORPHA:2044
HP:0001627	Abnormal heart morphology	10847	SRCAP	OMIM:136140
HP:0001627	Abnormal heart morphology	1802	DPH2	OMIM:620062
HP:0001627	Abnormal heart morphology	6123	RPL3L	OMIM:619371
HP:0001627	Abnormal heart morphology	5700	PSMC1	OMIM:620071
HP:0001627	Abnormal heart morphology	79228	THOC6	ORPHA:363444
HP:0001627	Abnormal heart morphology	5515	PPP2CA	OMIM:618354
HP:0001627	Abnormal heart morphology	64324	NSD1	OMIM:117550
HP:0001627	Abnormal heart morphology	4607	MYBPC3	OMIM:115197
HP:0001627	Abnormal heart morphology	2703	GJA8	OMIM:612474
HP:0001627	Abnormal heart morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001627	Abnormal heart morphology	23511	NUP188	OMIM:618804
HP:0001627	Abnormal heart morphology	131118	DNAJC19	ORPHA:66634
HP:0001627	Abnormal heart morphology	51729	WBP11	OMIM:619227
HP:0001627	Abnormal heart morphology	2783	GNB2	OMIM:619503
HP:0001627	Abnormal heart morphology	439	GET3	OMIM:620203
HP:0001627	Abnormal heart morphology	374969	SVBP	OMIM:618569
HP:0001627	Abnormal heart morphology	79087	ALG12	ORPHA:79324
HP:0001627	Abnormal heart morphology	10735	STAG2	OMIM:301022
HP:0001627	Abnormal heart morphology	51611	DPH5	OMIM:620070
HP:0001627	Abnormal heart morphology	1828	DSG1	OMIM:615508
HP:0001627	Abnormal heart morphology	2627	GATA6	OMIM:600001
HP:0001627	Abnormal heart morphology	55784	MCTP2	ORPHA:1596
HP:0001627	Abnormal heart morphology	26191	PTPN22	ORPHA:397
HP:0001627	Abnormal heart morphology	3106	HLA-B	ORPHA:397
HP:0001627	Abnormal heart morphology	3123	HLA-DRB1	ORPHA:397
HP:0001627	Abnormal heart morphology	8974	P4HA2	ORPHA:397
HP:0001627	Abnormal heart morphology	5337	PLD1	OMIM:212093
HP:0001627	Abnormal heart morphology	4613	MYCN	OMIM:164280
HP:0001627	Abnormal heart morphology	4613	MYCN	ORPHA:391641
HP:0001627	Abnormal heart morphology	54916	TMEM260	OMIM:617478
HP:0001627	Abnormal heart morphology	1312	COMT	ORPHA:567
HP:0001627	Abnormal heart morphology	221037	JMJD1C	ORPHA:567
HP:0001627	Abnormal heart morphology	2812	GP1BB	ORPHA:567
HP:0001627	Abnormal heart morphology	6239	RREB1	ORPHA:567
HP:0001627	Abnormal heart morphology	6899	TBX1	ORPHA:567
HP:0001627	Abnormal heart morphology	7290	HIRA	ORPHA:567
HP:0001627	Abnormal heart morphology	9632	SEC24C	ORPHA:567
HP:0001627	Abnormal heart morphology	7353	UFD1	ORPHA:567
HP:0001627	Abnormal heart morphology	421	ARVCF	ORPHA:567
HP:0001627	Abnormal heart morphology	1824	DSC2	OMIM:610476
HP:0001627	Abnormal heart morphology	54675	CRLS1	OMIM:620167
HP:0001627	Abnormal heart morphology	135	ADORA2A	ORPHA:363549
HP:0001627	Abnormal heart morphology	284252	KCTD1	OMIM:181270
HP:0001627	Abnormal heart morphology	8622	PDE8B	ORPHA:189439
HP:0001627	Abnormal heart morphology	50940	PDE11A	ORPHA:189439
HP:0001627	Abnormal heart morphology	50940	PDE11A	ORPHA:1359
HP:0001627	Abnormal heart morphology	4626	MYH8	OMIM:608837
HP:0001627	Abnormal heart morphology	2271	FH	OMIM:606812
HP:0001627	Abnormal heart morphology	4718	NDUFC2	OMIM:619170
HP:0001627	Abnormal heart morphology	808	CALM3	OMIM:618782
HP:0001627	Abnormal heart morphology	1107	CHD3	OMIM:618205
HP:0001627	Abnormal heart morphology	22872	SEC31A	OMIM:618651
HP:0001627	Abnormal heart morphology	79053	ALG8	OMIM:608104
HP:0001627	Abnormal heart morphology	4713	NDUFB7	OMIM:620135
HP:0001627	Abnormal heart morphology	7248	TSC1	ORPHA:538
HP:0001627	Abnormal heart morphology	7249	TSC2	ORPHA:538
HP:0001627	Abnormal heart morphology	1593	CYP27A1	ORPHA:909
HP:0001627	Abnormal heart morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001627	Abnormal heart morphology	23545	ATP6V0A2	OMIM:278250
HP:0001627	Abnormal heart morphology	9382	COG1	ORPHA:263508
HP:0001627	Abnormal heart morphology	114803	MYSM1	ORPHA:508542
HP:0001627	Abnormal heart morphology	7428	VHL	ORPHA:892
HP:0001627	Abnormal heart morphology	595	CCND1	ORPHA:892
HP:0001627	Abnormal heart morphology	2879	GPX4	ORPHA:93317
HP:0001627	Abnormal heart morphology	2879	GPX4	OMIM:250220
HP:0001627	Abnormal heart morphology	27068	PPA2	OMIM:617222
HP:0001627	Abnormal heart morphology	57534	MIB1	OMIM:615092
HP:0001627	Abnormal heart morphology	63976	PRDM16	OMIM:615373
HP:0001627	Abnormal heart morphology	805	CALM2	OMIM:616249
HP:0001627	Abnormal heart morphology	4285	MIPEP	OMIM:617228
HP:0001627	Abnormal heart morphology	388753	COA6	OMIM:616501
HP:0001627	Abnormal heart morphology	57176	VARS2	OMIM:615917
HP:0001627	Abnormal heart morphology	8777	MPDZ	OMIM:615219
HP:0001627	Abnormal heart morphology	10551	AGR2	OMIM:620233
HP:0001627	Abnormal heart morphology	745	MYRF	OMIM:618280
HP:0001627	Abnormal heart morphology	2294	FOXF1	OMIM:265380
HP:0001627	Abnormal heart morphology	55636	CHD7	OMIM:214800
HP:0001627	Abnormal heart morphology	6885	MAP3K7	OMIM:157800
HP:0001627	Abnormal heart morphology	2934	GSN	OMIM:105120
HP:0001627	Abnormal heart morphology	567	B2M	ORPHA:314652
HP:0001627	Abnormal heart morphology	3728	JUP	OMIM:601214
HP:0001627	Abnormal heart morphology	80206	FHOD3	OMIM:619402
HP:0001627	Abnormal heart morphology	442721	LMOD2	OMIM:619897
HP:0001627	Abnormal heart morphology	151648	SGO1	OMIM:616201
HP:0001627	Abnormal heart morphology	6331	SCN5A	OMIM:614022
HP:0001627	Abnormal heart morphology	2318	FLNC	OMIM:617047
HP:0001627	Abnormal heart morphology	2318	FLNC	ORPHA:75249
HP:0001627	Abnormal heart morphology	54914	FOCAD	OMIM:619991
HP:0001627	Abnormal heart morphology	9631	NUP155	OMIM:615770
HP:0001627	Abnormal heart morphology	8260	NAA10	OMIM:300855
HP:0001627	Abnormal heart morphology	6324	SCN1B	OMIM:615377
HP:0001627	Abnormal heart morphology	4878	NPPA	OMIM:612201
HP:0001627	Abnormal heart morphology	8815	BANF1	OMIM:614008
HP:0001627	Abnormal heart morphology	2997	GYS1	OMIM:611556
HP:0001627	Abnormal heart morphology	84665	MYPN	ORPHA:75249
HP:0001627	Abnormal heart morphology	2273	FHL1	OMIM:300280
HP:0001627	Abnormal heart morphology	7092	TLL1	ORPHA:99106
HP:0001627	Abnormal heart morphology	55181	SMG8	OMIM:619268
HP:0001627	Abnormal heart morphology	10526	IPO8	OMIM:619472
HP:0001627	Abnormal heart morphology	9997	SCO2	OMIM:604377
HP:0001627	Abnormal heart morphology	23676	SMPX	OMIM:301075
HP:0001627	Abnormal heart morphology	1832	DSP	OMIM:605676
HP:0001627	Abnormal heart morphology	22845	DOLK	ORPHA:91131
HP:0001627	Abnormal heart morphology	493753	COA5	OMIM:616500
HP:0001627	Abnormal heart morphology	779	CACNA1S	ORPHA:423
HP:0001627	Abnormal heart morphology	57104	PNPLA2	ORPHA:565612
HP:0001627	Abnormal heart morphology	56006	SMG9	OMIM:619995
HP:0001627	Abnormal heart morphology	1616	DAXX	ORPHA:100075
HP:0001627	Abnormal heart morphology	546	ATRX	ORPHA:100075
HP:0001627	Abnormal heart morphology	7148	TNXB	OMIM:606408
HP:0001627	Abnormal heart morphology	7414	VCL	OMIM:613255
HP:0001627	Abnormal heart morphology	5318	PKP2	OMIM:609040
HP:0001627	Abnormal heart morphology	54800	KLHL24	OMIM:620236
HP:0001627	Abnormal heart morphology	51422	PRKAG2	OMIM:261740
HP:0001627	Abnormal heart morphology	29123	ANKRD11	ORPHA:2332
HP:0001627	Abnormal heart morphology	25802	LMOD1	ORPHA:2241
HP:0001627	Abnormal heart morphology	4629	MYH11	ORPHA:2241
HP:0001627	Abnormal heart morphology	72	ACTG2	ORPHA:2241
HP:0001627	Abnormal heart morphology	4638	MYLK	ORPHA:2241
HP:0001627	Abnormal heart morphology	64218	SEMA4A	ORPHA:440437
HP:0001627	Abnormal heart morphology	657	BMPR1A	ORPHA:440437
HP:0001627	Abnormal heart morphology	6224	RPS20	ORPHA:440437
HP:0001627	Abnormal heart morphology	4072	EPCAM	ORPHA:144
HP:0001627	Abnormal heart morphology	4292	MLH1	ORPHA:144
HP:0001627	Abnormal heart morphology	5395	PMS2	ORPHA:144
HP:0001627	Abnormal heart morphology	27030	MLH3	ORPHA:144
HP:0001627	Abnormal heart morphology	22909	FAN1	ORPHA:144
HP:0001627	Abnormal heart morphology	7048	TGFBR2	ORPHA:144
HP:0001627	Abnormal heart morphology	5290	PIK3CA	ORPHA:144
HP:0001627	Abnormal heart morphology	2956	MSH6	ORPHA:144
HP:0001627	Abnormal heart morphology	5378	PMS1	ORPHA:144
HP:0001627	Abnormal heart morphology	4436	MSH2	ORPHA:144
HP:0001627	Abnormal heart morphology	6888	TALDO1	ORPHA:101028
HP:0001627	Abnormal heart morphology	126328	NDUFA11	OMIM:618236
HP:0001627	Abnormal heart morphology	529	ATP6V1E1	OMIM:617402
HP:3000003	Abnormal mandibular ramus morphology	4784	NFIX	OMIM:602535
HP:3000003	Abnormal mandibular ramus morphology	3759	KCNJ2	OMIM:170390
HP:3000003	Abnormal mandibular ramus morphology	3166	HMX1	OMIM:612109
HP:3000003	Abnormal mandibular ramus morphology	5332	PLCB4	OMIM:614669
HP:3000003	Abnormal mandibular ramus morphology	5332	PLCB4	ORPHA:137888
HP:3000003	Abnormal mandibular ramus morphology	1906	EDN1	ORPHA:137888
HP:3000003	Abnormal mandibular ramus morphology	2773	GNAI3	ORPHA:137888
HP:3000003	Abnormal mandibular ramus morphology	2773	GNAI3	OMIM:602483
HP:3000004	Abnormality of frontalis muscle belly	60482	SLC5A7	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	4649	MYO9A	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	1305	COL13A1	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	1103	CHAT	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	6576	SLC25A1	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	6843	VAMP1	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	375790	AGRN	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	127833	SYT2	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	6572	SLC18A3	ORPHA:98914
HP:3000004	Abnormality of frontalis muscle belly	6616	SNAP25	ORPHA:98914
HP:3000005	Abnormality of masseter muscle	779	CACNA1S	ORPHA:423
HP:3000005	Abnormality of masseter muscle	6261	RYR1	ORPHA:423
HP:3000005	Abnormality of masseter muscle	10755	GIPC1	ORPHA:98897
HP:3000005	Abnormality of masseter muscle	100996717	NOTCH2NLC	ORPHA:98897
HP:3000010	Abnormality of orbicularis oris muscle	10755	GIPC1	ORPHA:98897
HP:3000010	Abnormality of orbicularis oris muscle	100996717	NOTCH2NLC	ORPHA:98897
HP:3000019	Abnormal buccal mucosa morphology	340665	CYP26C1	ORPHA:398189
HP:3000022	Abnormality of cartilage of external ear	26137	ZBTB20	OMIM:259050
HP:3000022	Abnormality of cartilage of external ear	26137	ZBTB20	ORPHA:3042
HP:3000022	Abnormality of cartilage of external ear	4256	MGP	OMIM:245150
HP:3000022	Abnormality of cartilage of external ear	5167	ENPP1	ORPHA:51608
HP:3000022	Abnormality of cartilage of external ear	368	ABCC6	ORPHA:51608
HP:3000022	Abnormality of cartilage of external ear	1906	EDN1	ORPHA:137888
HP:3000022	Abnormality of cartilage of external ear	5332	PLCB4	ORPHA:137888
HP:3000022	Abnormality of cartilage of external ear	2773	GNAI3	ORPHA:137888
HP:3000022	Abnormality of cartilage of external ear	58499	ZNF462	OMIM:618619
HP:3000022	Abnormality of cartilage of external ear	7291	TWIST1	ORPHA:794
HP:3000022	Abnormality of cartilage of external ear	7291	TWIST1	OMIM:101400
HP:3000022	Abnormality of cartilage of external ear	2263	FGFR2	ORPHA:794
HP:3000022	Abnormality of cartilage of external ear	2263	FGFR2	OMIM:101400
HP:3000022	Abnormality of cartilage of external ear	2261	FGFR3	ORPHA:794
HP:3000022	Abnormality of cartilage of external ear	63932	STEEP1	OMIM:301013
HP:3000022	Abnormality of cartilage of external ear	9653	HS2ST1	OMIM:619194
HP:3000022	Abnormality of cartilage of external ear	22907	DHX30	OMIM:617804
HP:3000022	Abnormality of cartilage of external ear	7468	NSD2	OMIM:619695
HP:3000022	Abnormality of cartilage of external ear	26123	TCTN3	ORPHA:2753
HP:3000030	Abnormal morphology of bony orbit of skull	79158	GNPTAB	ORPHA:576
HP:3000030	Abnormal morphology of bony orbit of skull	6497	SKI	OMIM:182212
HP:3000030	Abnormal morphology of bony orbit of skull	4784	NFIX	OMIM:602535
HP:3000030	Abnormal morphology of bony orbit of skull	3763	KCNJ6	ORPHA:435628
HP:3000030	Abnormal morphology of bony orbit of skull	3763	KCNJ6	OMIM:614098
HP:3000030	Abnormal morphology of bony orbit of skull	8925	HERC1	ORPHA:457359
HP:3000030	Abnormal morphology of bony orbit of skull	3190	HNRNPK	OMIM:616580
HP:3000030	Abnormal morphology of bony orbit of skull	3190	HNRNPK	ORPHA:352665
HP:3000030	Abnormal morphology of bony orbit of skull	3190	HNRNPK	ORPHA:453504
HP:3000030	Abnormal morphology of bony orbit of skull	57061	HYMAI	ORPHA:96191
HP:3000030	Abnormal morphology of bony orbit of skull	5325	PLAGL1	ORPHA:96191
HP:3000030	Abnormal morphology of bony orbit of skull	2260	FGFR1	OMIM:166250
HP:3000030	Abnormal morphology of bony orbit of skull	2260	FGFR1	OMIM:101600
HP:3000030	Abnormal morphology of bony orbit of skull	775	CACNA1C	OMIM:620029
HP:3000030	Abnormal morphology of bony orbit of skull	2263	FGFR2	OMIM:123500
HP:3000030	Abnormal morphology of bony orbit of skull	2263	FGFR2	OMIM:101600
HP:3000030	Abnormal morphology of bony orbit of skull	2263	FGFR2	OMIM:101400
HP:3000030	Abnormal morphology of bony orbit of skull	2263	FGFR2	OMIM:101200
HP:3000030	Abnormal morphology of bony orbit of skull	5727	PTCH1	OMIM:610828
HP:3000030	Abnormal morphology of bony orbit of skull	157570	ESCO2	OMIM:268300
HP:3000030	Abnormal morphology of bony orbit of skull	79796	ALG9	ORPHA:79328
HP:3000030	Abnormal morphology of bony orbit of skull	4000	LMNA	ORPHA:740
HP:3000030	Abnormal morphology of bony orbit of skull	10269	ZMPSTE24	ORPHA:740
HP:3000030	Abnormal morphology of bony orbit of skull	5422	POLA1	OMIM:301030
HP:3000030	Abnormal morphology of bony orbit of skull	2200	FBN1	OMIM:608328
HP:3000030	Abnormal morphology of bony orbit of skull	3636	INPPL1	OMIM:258480
HP:3000030	Abnormal morphology of bony orbit of skull	4094	MAF	ORPHA:1272
HP:3000030	Abnormal morphology of bony orbit of skull	221496	LEMD2	OMIM:619322
HP:3000030	Abnormal morphology of bony orbit of skull	2317	FLNB	OMIM:150250
HP:3000030	Abnormal morphology of bony orbit of skull	5159	PDGFRB	OMIM:601812
HP:3000030	Abnormal morphology of bony orbit of skull	10651	MTX2	OMIM:619127
HP:3000030	Abnormal morphology of bony orbit of skull	8985	PLOD3	OMIM:612394
HP:3000030	Abnormal morphology of bony orbit of skull	7291	TWIST1	OMIM:101400
HP:3000030	Abnormal morphology of bony orbit of skull	7291	TWIST1	OMIM:180750
HP:3000030	Abnormal morphology of bony orbit of skull	23729	SHPK	ORPHA:440713
HP:3000030	Abnormal morphology of bony orbit of skull	4286	MITF	OMIM:617306
HP:3000030	Abnormal morphology of bony orbit of skull	25942	SIN3A	OMIM:613406
HP:3000030	Abnormal morphology of bony orbit of skull	26040	SETBP1	OMIM:269150
HP:3000030	Abnormal morphology of bony orbit of skull	26040	SETBP1	ORPHA:798
HP:3000030	Abnormal morphology of bony orbit of skull	871	SERPINH1	OMIM:613848
HP:3000030	Abnormal morphology of bony orbit of skull	81794	ADAMTS10	OMIM:277600
HP:3000030	Abnormal morphology of bony orbit of skull	5034	P4HB	OMIM:112240
HP:3000033	Abnormal nasopharyngeal adenoid morphology	89970	RSPRY1	ORPHA:457395
HP:3000033	Abnormal nasopharyngeal adenoid morphology	3423	IDS	ORPHA:217085
HP:3000033	Abnormal nasopharyngeal adenoid morphology	3423	IDS	ORPHA:217093
HP:3000033	Abnormal nasopharyngeal adenoid morphology	51341	ZBTB7A	OMIM:619769
HP:3000034	Abnormality nasal septum cartilage morphology	5727	PTCH1	OMIM:610828
HP:3000034	Abnormality nasal septum cartilage morphology	7050	TGIF1	OMIM:142946
HP:3000034	Abnormality nasal septum cartilage morphology	6496	SIX3	OMIM:157170
HP:3000034	Abnormality nasal septum cartilage morphology	7317	UBA1	OMIM:301054
HP:3000036	Abnormal head blood vessel morphology	5167	ENPP1	ORPHA:51608
HP:3000036	Abnormal head blood vessel morphology	368	ABCC6	ORPHA:51608
HP:3000036	Abnormal head blood vessel morphology	84168	ANTXR1	OMIM:230740
HP:3000036	Abnormal head blood vessel morphology	9791	PTDSS1	OMIM:151050
HP:3000036	Abnormal head blood vessel morphology	11128	POLR3A	OMIM:264090
HP:3000036	Abnormal head blood vessel morphology	11128	POLR3A	ORPHA:3455
HP:3000036	Abnormal head blood vessel morphology	1282	COL4A1	OMIM:180000
HP:3000036	Abnormal head blood vessel morphology	1282	COL4A1	OMIM:611773
HP:3000036	Abnormal head blood vessel morphology	1282	COL4A1	OMIM:175780
HP:3000036	Abnormal head blood vessel morphology	6804	STX1A	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	7461	CLIP2	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	8468	FKBP6	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	5982	RFC2	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	2969	GTF2I	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	3984	LIMK1	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	9569	GTF2IRD1	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	155382	VPS37D	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	155368	METTL27	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	114049	BUD23	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	7458	EIF4H	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	84163	GTF2IRD2	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	9275	BCL7B	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	26608	TBL2	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	653361	NCF1	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	135886	TMEM270	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	51085	MLXIPL	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	51085	MLXIPL	OMIM:194050
HP:3000036	Abnormal head blood vessel morphology	9031	BAZ1B	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	2006	ELN	ORPHA:904
HP:3000036	Abnormal head blood vessel morphology	2006	ELN	OMIM:194050
HP:3000036	Abnormal head blood vessel morphology	4693	NDP	ORPHA:90050
HP:3000036	Abnormal head blood vessel morphology	4041	LRP5	ORPHA:90050
HP:3000036	Abnormal head blood vessel morphology	8322	FZD4	ORPHA:90050
HP:3000036	Abnormal head blood vessel morphology	1312	COMT	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	221037	JMJD1C	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	2812	GP1BB	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	6239	RREB1	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	6899	TBX1	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	7290	HIRA	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	9632	SEC24C	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	7353	UFD1	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	421	ARVCF	ORPHA:567
HP:3000036	Abnormal head blood vessel morphology	4010	LMX1B	ORPHA:2614
HP:3000036	Abnormal head blood vessel morphology	3198	HOXA1	OMIM:601536
HP:3000036	Abnormal head blood vessel morphology	84277	DNAJC30	OMIM:619382
HP:3000036	Abnormal head blood vessel morphology	85465	SELENOI	ORPHA:506353
HP:3000036	Abnormal head blood vessel morphology	4514	MT-CO3	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4519	MT-CYB	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4541	MT-ND6	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4540	MT-ND5	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4508	MT-ATP6	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4539	MT-ND4L	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4535	MT-ND1	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4536	MT-ND2	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4538	MT-ND4	OMIM:535000
HP:3000036	Abnormal head blood vessel morphology	4750	NEK1	ORPHA:2751
HP:3000036	Abnormal head blood vessel morphology	2161	F12	ORPHA:330
HP:3000036	Abnormal head blood vessel morphology	7439	BEST1	OMIM:193220
HP:3000036	Abnormal head blood vessel morphology	7287	TULP1	OMIM:600132
HP:3000036	Abnormal head blood vessel morphology	9129	PRPF3	OMIM:601414
HP:3000036	Abnormal head blood vessel morphology	427	ASAH1	ORPHA:333
HP:3000036	Abnormal head blood vessel morphology	427	ASAH1	OMIM:228000
HP:3000036	Abnormal head blood vessel morphology	5476	CTSA	ORPHA:351
HP:3000036	Abnormal head blood vessel morphology	5476	CTSA	OMIM:256540
HP:3000036	Abnormal head blood vessel morphology	6609	SMPD1	ORPHA:77293
HP:3000036	Abnormal head blood vessel morphology	6609	SMPD1	OMIM:257200
HP:3000036	Abnormal head blood vessel morphology	3074	HEXB	ORPHA:309155
HP:3000036	Abnormal head blood vessel morphology	3074	HEXB	OMIM:268800
HP:3000036	Abnormal head blood vessel morphology	2720	GLB1	OMIM:230500
HP:3000036	Abnormal head blood vessel morphology	2720	GLB1	OMIM:230650
HP:3000036	Abnormal head blood vessel morphology	2720	GLB1	ORPHA:79255
HP:3000036	Abnormal head blood vessel morphology	2581	GALC	ORPHA:206436
HP:3000036	Abnormal head blood vessel morphology	5660	PSAP	ORPHA:206436
HP:3000036	Abnormal head blood vessel morphology	4758	NEU1	OMIM:256550
HP:3000036	Abnormal head blood vessel morphology	4758	NEU1	ORPHA:93399
HP:3000036	Abnormal head blood vessel morphology	4758	NEU1	ORPHA:812
HP:3000036	Abnormal head blood vessel morphology	4758	NEU1	ORPHA:93400
HP:3000036	Abnormal head blood vessel morphology	79583	TMEM231	ORPHA:2752
HP:3000036	Abnormal head blood vessel morphology	3073	HEXA	OMIM:272800
HP:3000036	Abnormal head blood vessel morphology	1615	DARS1	OMIM:615281
HP:3000036	Abnormal head blood vessel morphology	2760	GM2A	ORPHA:309246
HP:3000036	Abnormal head blood vessel morphology	10730	YME1L1	OMIM:617302
HP:3000036	Abnormal head blood vessel morphology	2202	EFEMP1	ORPHA:98977
HP:3000036	Abnormal head blood vessel morphology	1545	CYP1B1	ORPHA:98977
HP:3000036	Abnormal head blood vessel morphology	4653	MYOC	ORPHA:98977
HP:3000036	Abnormal head blood vessel morphology	3490	IGFBP7	OMIM:614224
HP:3000036	Abnormal head blood vessel morphology	3949	LDLR	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	255738	PCSK9	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	26119	LDLRAP1	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	338	APOB	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	64240	ABCG5	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	64241	ABCG8	ORPHA:391665
HP:3000036	Abnormal head blood vessel morphology	54820	NDE1	ORPHA:2177
HP:3000036	Abnormal head blood vessel morphology	4763	NF1	ORPHA:97685
HP:3000037	Abnormal neck blood vessel morphology	2304	FOXE1	ORPHA:319487
HP:3000037	Abnormal neck blood vessel morphology	3026	HABP2	ORPHA:319487
HP:3000037	Abnormal neck blood vessel morphology	9562	MINPP1	ORPHA:319487
HP:3000038	Abnormal cricoid cartilage morphology	22827	PUF60	ORPHA:508488
HP:3000048	Abnormal great auricular nerve morphology	79628	SH3TC2	OMIM:601596
HP:3000050	Abnormal odontoid tissue morphology	7399	USH2A	ORPHA:231178
HP:3000050	Abnormal odontoid tissue morphology	79955	PDZD7	ORPHA:231178
HP:3000050	Abnormal odontoid tissue morphology	4647	MYO7A	ORPHA:231178
HP:3000050	Abnormal odontoid tissue morphology	4647	MYO7A	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	25861	WHRN	ORPHA:231178
HP:3000050	Abnormal odontoid tissue morphology	84059	ADGRV1	ORPHA:231178
HP:3000050	Abnormal odontoid tissue morphology	9871	SEC24D	ORPHA:2050
HP:3000050	Abnormal odontoid tissue morphology	5034	P4HB	ORPHA:2050
HP:3000050	Abnormal odontoid tissue morphology	64840	PORCN	ORPHA:2092
HP:3000050	Abnormal odontoid tissue morphology	9791	PTDSS1	ORPHA:2658
HP:3000050	Abnormal odontoid tissue morphology	9401	RECQL4	ORPHA:221016
HP:3000050	Abnormal odontoid tissue morphology	9820	CUL7	ORPHA:2616
HP:3000050	Abnormal odontoid tissue morphology	23363	OBSL1	ORPHA:2616
HP:3000050	Abnormal odontoid tissue morphology	83987	CCDC8	ORPHA:2616
HP:3000050	Abnormal odontoid tissue morphology	6804	STX1A	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	7461	CLIP2	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	84277	DNAJC30	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	8468	FKBP6	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	5982	RFC2	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	2969	GTF2I	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	3984	LIMK1	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	9569	GTF2IRD1	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	155382	VPS37D	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	155368	METTL27	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	114049	BUD23	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	7458	EIF4H	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	84163	GTF2IRD2	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	9275	BCL7B	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	26608	TBL2	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	653361	NCF1	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	135886	TMEM270	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	51085	MLXIPL	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	9031	BAZ1B	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	2006	ELN	ORPHA:904
HP:3000050	Abnormal odontoid tissue morphology	5189	PEX1	ORPHA:3220
HP:3000050	Abnormal odontoid tissue morphology	5190	PEX6	ORPHA:3220
HP:3000050	Abnormal odontoid tissue morphology	5728	PTEN	ORPHA:744
HP:3000050	Abnormal odontoid tissue morphology	207	AKT1	ORPHA:744
HP:3000050	Abnormal odontoid tissue morphology	8517	IKBKG	ORPHA:464
HP:3000050	Abnormal odontoid tissue morphology	84172	POLR1B	ORPHA:861
HP:3000050	Abnormal odontoid tissue morphology	9533	POLR1C	ORPHA:861
HP:3000050	Abnormal odontoid tissue morphology	51082	POLR1D	ORPHA:861
HP:3000050	Abnormal odontoid tissue morphology	6949	TCOF1	ORPHA:861
HP:3000050	Abnormal odontoid tissue morphology	63916	ELMO2	ORPHA:3019
HP:3000050	Abnormal odontoid tissue morphology	26504	CNNM4	ORPHA:1873
HP:3000050	Abnormal odontoid tissue morphology	6905	TBCE	ORPHA:2323
HP:3000050	Abnormal odontoid tissue morphology	224	ALDH3A2	ORPHA:816
HP:3000050	Abnormal odontoid tissue morphology	2263	FGFR2	ORPHA:2363
HP:3000050	Abnormal odontoid tissue morphology	2261	FGFR3	ORPHA:2363
HP:3000050	Abnormal odontoid tissue morphology	2255	FGF10	ORPHA:2363
HP:3000050	Abnormal odontoid tissue morphology	1717	DHCR7	ORPHA:818
HP:3000050	Abnormal odontoid tissue morphology	54757	FAM20A	ORPHA:1031
HP:3000050	Abnormal odontoid tissue morphology	5818	NECTIN1	ORPHA:3253
HP:3000050	Abnormal odontoid tissue morphology	9076	CLDN1	ORPHA:59303
HP:3000050	Abnormal odontoid tissue morphology	57539	WDR35	ORPHA:1515
HP:3000050	Abnormal odontoid tissue morphology	112752	IFT43	ORPHA:1515
HP:3000050	Abnormal odontoid tissue morphology	51098	IFT52	ORPHA:1515
HP:3000050	Abnormal odontoid tissue morphology	55764	IFT122	ORPHA:1515
HP:3000050	Abnormal odontoid tissue morphology	57728	WDR19	ORPHA:1515
HP:3000050	Abnormal odontoid tissue morphology	4952	OCRL	ORPHA:534
HP:3000050	Abnormal odontoid tissue morphology	4038	LRP4	ORPHA:3258
HP:3000050	Abnormal odontoid tissue morphology	324	APC	ORPHA:3258
HP:3000050	Abnormal odontoid tissue morphology	5339	PLEC	ORPHA:257
HP:3000050	Abnormal odontoid tissue morphology	5295	PIK3R1	ORPHA:3163
HP:3000050	Abnormal odontoid tissue morphology	51360	MBTPS2	ORPHA:2273
HP:3000050	Abnormal odontoid tissue morphology	55612	FERMT1	ORPHA:2908
HP:3000050	Abnormal odontoid tissue morphology	4763	NF1	ORPHA:139474
HP:3000050	Abnormal odontoid tissue morphology	10312	TCIRG1	ORPHA:1782
HP:3000050	Abnormal odontoid tissue morphology	55315	SLC29A3	ORPHA:1782
HP:3000050	Abnormal odontoid tissue morphology	8792	TNFRSF11A	ORPHA:1782
HP:3000050	Abnormal odontoid tissue morphology	545	ATR	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	1062	CENPE	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	5116	PCNT	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	5932	RBBP8	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	79902	NUP85	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	84126	ATRIP	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	55835	CENPJ	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	10293	TRAIP	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	22995	CEP152	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	10733	PLK4	ORPHA:808
HP:3000050	Abnormal odontoid tissue morphology	2248	FGF3	ORPHA:2791
HP:3000050	Abnormal odontoid tissue morphology	284111	SLC13A5	ORPHA:1946
HP:3000050	Abnormal odontoid tissue morphology	79641	ROGDI	ORPHA:1946
HP:3000050	Abnormal odontoid tissue morphology	8481	OFD1	ORPHA:2750
HP:3000050	Abnormal odontoid tissue morphology	1312	COMT	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	221037	JMJD1C	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	2812	GP1BB	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	6239	RREB1	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	6899	TBX1	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	7290	HIRA	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	9632	SEC24C	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	7353	UFD1	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	421	ARVCF	ORPHA:567
HP:3000050	Abnormal odontoid tissue morphology	2697	GJA1	ORPHA:2710
HP:3000050	Abnormal odontoid tissue morphology	54539	NDUFB11	ORPHA:2556
HP:3000050	Abnormal odontoid tissue morphology	1349	COX7B	ORPHA:2556
HP:3000050	Abnormal odontoid tissue morphology	3052	HCCS	ORPHA:2556
HP:3000050	Abnormal odontoid tissue morphology	3265	HRAS	ORPHA:3071
HP:3000050	Abnormal odontoid tissue morphology	64072	CDH23	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	10083	USH1C	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	124590	USH1G	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	83715	ESPN	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	10518	CIB2	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	65217	PCDH15	ORPHA:231169
HP:3000050	Abnormal odontoid tissue morphology	8626	TP63	ORPHA:1896
HP:3000050	Abnormal odontoid tissue morphology	5144	PDE4D	ORPHA:439822
HP:3000050	Abnormal odontoid tissue morphology	84818	IL17RC	ORPHA:1334
HP:3000050	Abnormal odontoid tissue morphology	64581	CLEC7A	ORPHA:1334
HP:3000050	Abnormal odontoid tissue morphology	23765	IL17RA	ORPHA:1334
HP:3000050	Abnormal odontoid tissue morphology	10758	TRAF3IP2	ORPHA:1334
HP:3000050	Abnormal odontoid tissue morphology	112744	IL17F	ORPHA:1334
HP:3000050	Abnormal odontoid tissue morphology	860	RUNX2	ORPHA:1452
HP:3000050	Abnormal odontoid tissue morphology	9361	LONP1	ORPHA:1458
HP:3000050	Abnormal odontoid tissue morphology	64682	ANAPC1	ORPHA:221008
HP:3000050	Abnormal odontoid tissue morphology	2720	GLB1	OMIM:253010
HP:3000050	Abnormal odontoid tissue morphology	2588	GALNS	OMIM:253000
HP:3000050	Abnormal odontoid tissue morphology	1834	DSPP	OMIM:125500
HP:3000050	Abnormal odontoid tissue morphology	5251	PHEX	ORPHA:89936
HP:3000050	Abnormal odontoid tissue morphology	9321	TRIP11	ORPHA:166272
HP:3000050	Abnormal odontoid tissue morphology	9321	TRIP11	OMIM:184260
HP:3000050	Abnormal odontoid tissue morphology	126792	B3GALT6	ORPHA:536467
HP:3000050	Abnormal odontoid tissue morphology	79879	CCDC134	OMIM:619795
HP:3000050	Abnormal odontoid tissue morphology	84627	ZNF469	OMIM:229200
HP:3000050	Abnormal odontoid tissue morphology	10491	CRTAP	OMIM:610682
HP:3000050	Abnormal odontoid tissue morphology	5479	PPIB	OMIM:259440
HP:3000050	Abnormal odontoid tissue morphology	1277	COL1A1	OMIM:259420
HP:3000050	Abnormal odontoid tissue morphology	1277	COL1A1	OMIM:166220
HP:3000050	Abnormal odontoid tissue morphology	1277	COL1A1	OMIM:166200
HP:3000050	Abnormal odontoid tissue morphology	1278	COL1A2	OMIM:259420
HP:3000050	Abnormal odontoid tissue morphology	1278	COL1A2	OMIM:166220
HP:3000050	Abnormal odontoid tissue morphology	6678	SPARC	OMIM:616507
HP:3000050	Abnormal odontoid tissue morphology	387733	IFITM5	OMIM:610967
HP:3000050	Abnormal odontoid tissue morphology	60681	FKBP10	OMIM:610968
HP:3000050	Abnormal odontoid tissue morphology	375056	MIA3	OMIM:619269
HP:3000050	Abnormal odontoid tissue morphology	5176	SERPINF1	OMIM:613982
HP:3000050	Abnormal odontoid tissue morphology	649	BMP1	OMIM:614856
HP:3000050	Abnormal odontoid tissue morphology	871	SERPINH1	OMIM:613848
HP:3000050	Abnormal odontoid tissue morphology	121340	SP7	OMIM:613849
HP:3000050	Abnormal odontoid tissue morphology	64175	P3H1	OMIM:610915
HP:3000050	Abnormal odontoid tissue morphology	265	AMELX	OMIM:301200
HP:3000050	Abnormal odontoid tissue morphology	93650	ACP4	OMIM:617297
HP:3000050	Abnormal odontoid tissue morphology	134218	DNAJC21	OMIM:617052
HP:3000050	Abnormal odontoid tissue morphology	3694	ITGB6	OMIM:616221
HP:3000050	Abnormal odontoid tissue morphology	84068	SLC10A7	OMIM:618363
HP:3000050	Abnormal odontoid tissue morphology	6603	SMARCD2	OMIM:617475
HP:3000050	Abnormal odontoid tissue morphology	84876	ORAI1	OMIM:612782
HP:3000050	Abnormal odontoid tissue morphology	8111	GPR68	OMIM:617217
HP:3000050	Abnormal odontoid tissue morphology	10117	ENAM	OMIM:204650
HP:3000050	Abnormal odontoid tissue morphology	10117	ENAM	OMIM:104500
HP:3000050	Abnormal odontoid tissue morphology	6786	STIM1	OMIM:612783
HP:3000050	Abnormal odontoid tissue morphology	286077	FAM83H	OMIM:130900
HP:3000050	Abnormal odontoid tissue morphology	80320	SP6	OMIM:620104
HP:3000050	Abnormal odontoid tissue morphology	55858	TMEM165	OMIM:614727
HP:3000050	Abnormal odontoid tissue morphology	258	AMBN	OMIM:616270
HP:3000050	Abnormal odontoid tissue morphology	4054	LTBP3	OMIM:601216
HP:3000050	Abnormal odontoid tissue morphology	3909	LAMA3	OMIM:245660
HP:3000050	Abnormal odontoid tissue morphology	149461	CLDN19	OMIM:248190
HP:3000050	Abnormal odontoid tissue morphology	123041	SLC24A4	OMIM:615887
HP:3000050	Abnormal odontoid tissue morphology	6304	SATB1	OMIM:619229
HP:3000050	Abnormal odontoid tissue morphology	152816	ODAPH	OMIM:614832
HP:3000050	Abnormal odontoid tissue morphology	9622	KLK4	OMIM:204700
HP:3000050	Abnormal odontoid tissue morphology	3914	LAMB3	OMIM:104530
HP:3000050	Abnormal odontoid tissue morphology	1747	DLX3	OMIM:104510
HP:3000050	Abnormal odontoid tissue morphology	401138	AMTN	OMIM:617607
HP:3000050	Abnormal odontoid tissue morphology	3691	ITGB4	OMIM:226730
HP:3000050	Abnormal odontoid tissue morphology	3691	ITGB4	ORPHA:79403
HP:3000050	Abnormal odontoid tissue morphology	3691	ITGB4	ORPHA:79402
HP:3000050	Abnormal odontoid tissue morphology	3691	ITGB4	ORPHA:251393
HP:3000050	Abnormal odontoid tissue morphology	1161	ERCC8	ORPHA:90324
HP:3000050	Abnormal odontoid tissue morphology	1161	ERCC8	ORPHA:90321
HP:3000050	Abnormal odontoid tissue morphology	1161	ERCC8	ORPHA:90322
HP:3000050	Abnormal odontoid tissue morphology	1161	ERCC8	OMIM:216400
HP:3000050	Abnormal odontoid tissue morphology	2074	ERCC6	ORPHA:90324
HP:3000050	Abnormal odontoid tissue morphology	2074	ERCC6	ORPHA:90321
HP:3000050	Abnormal odontoid tissue morphology	2074	ERCC6	ORPHA:90322
HP:3000050	Abnormal odontoid tissue morphology	81607	NECTIN4	OMIM:613573
HP:3000050	Abnormal odontoid tissue morphology	4010	LMX1B	ORPHA:2614
HP:3000050	Abnormal odontoid tissue morphology	55746	NUP133	OMIM:618349
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	ORPHA:94089
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	OMIM:612463
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	OMIM:612462
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	ORPHA:79443
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	ORPHA:79444
HP:3000050	Abnormal odontoid tissue morphology	2778	GNAS	OMIM:103580
HP:3000050	Abnormal odontoid tissue morphology	8675	STX16	ORPHA:94089
HP:3000050	Abnormal odontoid tissue morphology	2072	ERCC4	ORPHA:90321
HP:3000050	Abnormal odontoid tissue morphology	2072	ERCC4	OMIM:610965
HP:3000050	Abnormal odontoid tissue morphology	2067	ERCC1	ORPHA:90322
HP:3000050	Abnormal odontoid tissue morphology	64094	SMOC2	OMIM:125400
HP:3000050	Abnormal odontoid tissue morphology	3655	ITGA6	ORPHA:79403
HP:3000050	Abnormal odontoid tissue morphology	3918	LAMC2	ORPHA:79404
HP:3000050	Abnormal odontoid tissue morphology	3918	LAMC2	ORPHA:79402
HP:3000050	Abnormal odontoid tissue morphology	3918	LAMC2	OMIM:226700
HP:3000050	Abnormal odontoid tissue morphology	1308	COL17A1	ORPHA:79406
HP:3000050	Abnormal odontoid tissue morphology	1308	COL17A1	ORPHA:79402
HP:3000050	Abnormal odontoid tissue morphology	1308	COL17A1	ORPHA:251393
HP:3000050	Abnormal odontoid tissue morphology	4312	MMP1	ORPHA:79408
HP:3000050	Abnormal odontoid tissue morphology	4312	MMP1	OMIM:226600
HP:3000050	Abnormal odontoid tissue morphology	1294	COL7A1	ORPHA:79408
HP:3000050	Abnormal odontoid tissue morphology	1294	COL7A1	ORPHA:79409
HP:3000050	Abnormal odontoid tissue morphology	1294	COL7A1	OMIM:226600
HP:3000050	Abnormal odontoid tissue morphology	1294	COL7A1	ORPHA:79410
HP:3000050	Abnormal odontoid tissue morphology	1294	COL7A1	ORPHA:79411
HP:3000050	Abnormal odontoid tissue morphology	57511	COG6	ORPHA:363523
HP:3000050	Abnormal odontoid tissue morphology	57511	COG6	OMIM:614576
HP:3000050	Abnormal odontoid tissue morphology	57511	COG6	OMIM:615328
HP:3000050	Abnormal odontoid tissue morphology	80055	PGAP1	OMIM:615802
HP:3000050	Abnormal odontoid tissue morphology	56975	FAM20C	OMIM:259775
HP:3000050	Abnormal odontoid tissue morphology	6595	SMARCA2	OMIM:619293
HP:3000050	Abnormal odontoid tissue morphology	10265	IRX5	OMIM:611174
HP:3000050	Abnormal odontoid tissue morphology	3117	HLA-DQA1	OMIM:212750
HP:3000050	Abnormal odontoid tissue morphology	3119	HLA-DQB1	OMIM:212750
HP:3000050	Abnormal odontoid tissue morphology	3759	KCNJ2	OMIM:170390
HP:3000050	Abnormal odontoid tissue morphology	222663	SCUBE3	OMIM:619184
HP:3000050	Abnormal odontoid tissue morphology	1594	CYP27B1	OMIM:264700
HP:3000050	Abnormal odontoid tissue morphology	1594	CYP27B1	ORPHA:289157
HP:3000050	Abnormal odontoid tissue morphology	7421	VDR	OMIM:277440
HP:3000050	Abnormal odontoid tissue morphology	4591	TRIM37	OMIM:253250
HP:3000050	Abnormal odontoid tissue morphology	2783	GNB2	OMIM:619503
HP:3000050	Abnormal odontoid tissue morphology	57217	TTC7A	OMIM:243150
HP:3000050	Abnormal odontoid tissue morphology	120227	CYP2R1	ORPHA:289157
HP:3000050	Abnormal odontoid tissue morphology	1387	CREBBP	OMIM:180849
HP:3000050	Abnormal odontoid tissue morphology	2033	EP300	OMIM:180849
HP:3000050	Abnormal odontoid tissue morphology	83479	DDX59	ORPHA:2919
HP:3000050	Abnormal odontoid tissue morphology	7355	SLC35A2	OMIM:300896
HP:3000050	Abnormal odontoid tissue morphology	326	AIRE	OMIM:240300
HP:3000050	Abnormal odontoid tissue morphology	79977	GRHL2	OMIM:616029
HP:3000050	Abnormal odontoid tissue morphology	387	RHOA	OMIM:618727
HP:3000050	Abnormal odontoid tissue morphology	2591	GALNT3	OMIM:211900
HP:3000050	Abnormal odontoid tissue morphology	23219	FBXO28	OMIM:619777
HP:3000050	Abnormal odontoid tissue morphology	1107	CHD3	OMIM:618205
HP:3000050	Abnormal odontoid tissue morphology	404672	GTF2H5	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	833	CARS1	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	2068	ERCC2	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	7737	RNF113A	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	136647	MPLKIP	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	6897	TARS1	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	2071	ERCC3	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	2961	GTF2E2	ORPHA:33364
HP:3000050	Abnormal odontoid tissue morphology	2317	FLNB	OMIM:272460
HP:3000050	Abnormal odontoid tissue morphology	1487	CTBP1	OMIM:617915
HP:3000050	Abnormal odontoid tissue morphology	2260	FGFR1	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	4487	MSX1	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	128178	EDARADD	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	5083	PAX9	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	7341	SUMO1	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	80326	WNT10A	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	1896	EDA	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	3664	IRF6	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	4040	LRP6	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	7039	TGFA	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	7480	WNT10B	ORPHA:99798
HP:3000050	Abnormal odontoid tissue morphology	5286	PIK3C2A	ORPHA:557003
HP:3000050	Abnormal odontoid tissue morphology	1513	CTSK	ORPHA:763
HP:3000050	Abnormal odontoid tissue morphology	3861	KRT14	ORPHA:69087
HP:3000050	Abnormal odontoid tissue morphology	3861	KRT14	ORPHA:79396
HP:3000050	Abnormal odontoid tissue morphology	5062	PAK2	OMIM:618458
HP:3000050	Abnormal odontoid tissue morphology	3852	KRT5	ORPHA:79396
HP:3000050	Abnormal odontoid tissue morphology	7248	TSC1	OMIM:191100
HP:3000050	Abnormal odontoid tissue morphology	84957	RELT	OMIM:618386
HP:3000050	Abnormal odontoid tissue morphology	256764	WDR72	OMIM:613211
HP:3000050	Abnormal odontoid tissue morphology	5885	RAD21	OMIM:614701
HP:3000050	Abnormal odontoid tissue morphology	9313	MMP20	OMIM:612529
HP:3000050	Abnormal odontoid tissue morphology	8313	AXIN2	ORPHA:401911
HP:3000052	Abnormal hyoid bone morphology	415	ARSL	ORPHA:79345
HP:3000062	Abnormal internal carotid artery morphology	4010	LMX1B	ORPHA:2614
HP:3000062	Abnormal internal carotid artery morphology	3198	HOXA1	OMIM:601536
HP:3000062	Abnormal internal carotid artery morphology	3949	LDLR	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	255738	PCSK9	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	26119	LDLRAP1	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	338	APOB	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	64240	ABCG5	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	64241	ABCG8	ORPHA:391665
HP:3000062	Abnormal internal carotid artery morphology	54820	NDE1	ORPHA:2177
HP:3000062	Abnormal internal carotid artery morphology	4763	NF1	ORPHA:97685
HP:3000072	Abnormal levator palpebrae superioris morphology	55605	KIF21A	OMIM:135700
HP:3000072	Abnormal levator palpebrae superioris morphology	10381	TUBB3	OMIM:600638
HP:3000075	Abnormal lingual nerve morphology	22943	DKK1	ORPHA:268882
HP:3000077	Abnormal mandible condylar process morphology	5332	PLCB4	OMIM:614669
HP:3000077	Abnormal mandible condylar process morphology	5332	PLCB4	ORPHA:137888
HP:3000077	Abnormal mandible condylar process morphology	1906	EDN1	ORPHA:137888
HP:3000077	Abnormal mandible condylar process morphology	2773	GNAI3	ORPHA:137888
HP:3000077	Abnormal mandible condylar process morphology	2773	GNAI3	OMIM:602483
HP:0005527	Reduced kininogen activity	3827	KNG1	OMIM:228960
HP:0010972	Anemia of inadequate production	8029	CUBN	ORPHA:35858
HP:0010972	Anemia of inadequate production	8029	CUBN	OMIM:261100
HP:0010972	Anemia of inadequate production	81693	AMN	ORPHA:35858
HP:0010972	Anemia of inadequate production	81693	AMN	OMIM:618882
HP:0010972	Anemia of inadequate production	10841	FTCD	ORPHA:51208
HP:0010972	Anemia of inadequate production	10841	FTCD	OMIM:229100
HP:0010972	Anemia of inadequate production	2694	CBLIF	OMIM:261000
HP:0010972	Anemia of inadequate production	25974	MMACHC	ORPHA:79282
HP:0010972	Anemia of inadequate production	25974	MMACHC	OMIM:277400
HP:0010972	Anemia of inadequate production	55788	LMBRD1	ORPHA:79284
HP:0010972	Anemia of inadequate production	55788	LMBRD1	OMIM:277380
HP:0010972	Anemia of inadequate production	27249	MMADHC	OMIM:277410
HP:0010972	Anemia of inadequate production	1719	DHFR	OMIM:613839
HP:0010972	Anemia of inadequate production	4552	MTRR	OMIM:236270
HP:0010972	Anemia of inadequate production	3251	HPRT1	OMIM:300322
HP:0010972	Anemia of inadequate production	7466	WFS1	OMIM:222300
HP:0010972	Anemia of inadequate production	26227	PHGDH	OMIM:601815
HP:0010972	Anemia of inadequate production	26227	PHGDH	ORPHA:79351
HP:0010972	Anemia of inadequate production	4548	MTR	OMIM:250940
HP:0010972	Anemia of inadequate production	5052	PRDX1	OMIM:277400
HP:0010972	Anemia of inadequate production	3043	HBB	ORPHA:232
HP:0010972	Anemia of inadequate production	7454	WAS	OMIM:301000
HP:0010972	Anemia of inadequate production	8074	FGF23	ORPHA:89937
HP:0010972	Anemia of inadequate production	324	APC	ORPHA:261584
HP:0010972	Anemia of inadequate production	2590	GALNT2	OMIM:618885
HP:0010972	Anemia of inadequate production	212	ALAS2	OMIM:300752
HP:0010972	Anemia of inadequate production	85365	ALG2	OMIM:607906
HP:0010972	Anemia of inadequate production	8260	NAA10	OMIM:300855
HP:0010972	Anemia of inadequate production	2335	FN1	ORPHA:93315
HP:0010972	Anemia of inadequate production	1280	COL2A1	ORPHA:93315
HP:0010972	Anemia of inadequate production	50943	FOXP3	ORPHA:37042
HP:0010972	Anemia of inadequate production	3753	KCNE1	ORPHA:90647
HP:0010972	Anemia of inadequate production	3784	KCNQ1	ORPHA:90647
HP:0010972	Anemia of inadequate production	6794	STK11	OMIM:175200
HP:0010972	Anemia of inadequate production	3117	HLA-DQA1	OMIM:212750
HP:0010972	Anemia of inadequate production	3119	HLA-DQB1	OMIM:212750
HP:0010972	Anemia of inadequate production	9451	EIF2AK3	ORPHA:1667
HP:0010972	Anemia of inadequate production	2000	ELF4	OMIM:301074
HP:0010972	Anemia of inadequate production	1616	DAXX	ORPHA:100075
HP:0010972	Anemia of inadequate production	546	ATRX	ORPHA:100075
HP:0010972	Anemia of inadequate production	4312	MMP1	ORPHA:79408
HP:0010972	Anemia of inadequate production	1294	COL7A1	ORPHA:79408
HP:0010972	Anemia of inadequate production	1604	CD55	OMIM:226300
HP:0010972	Anemia of inadequate production	374879	ZNF699	OMIM:619488
HP:0010972	Anemia of inadequate production	10845	CLPX	OMIM:618015
HP:0010972	Anemia of inadequate production	5825	ABCD3	OMIM:616278
HP:0010972	Anemia of inadequate production	5321	PLA2G4A	OMIM:618372
HP:0010972	Anemia of inadequate production	355	FAS	OMIM:601859
HP:0010972	Anemia of inadequate production	356	FASLG	OMIM:601859
HP:0010972	Anemia of inadequate production	843	CASP10	OMIM:603909
HP:0010972	Anemia of inadequate production	1188	CLCNKB	ORPHA:358
HP:0010972	Anemia of inadequate production	6559	SLC12A3	ORPHA:358
HP:0010972	Anemia of inadequate production	3931	LCAT	OMIM:245900
HP:0010972	Anemia of inadequate production	11277	TREX1	ORPHA:247691
HP:0010972	Anemia of inadequate production	7386	UQCRFS1	OMIM:618775
HP:0010972	Anemia of inadequate production	7167	TPI1	OMIM:615512
HP:0010972	Anemia of inadequate production	3098	HK1	OMIM:235700
HP:0010972	Anemia of inadequate production	226	ALDOA	OMIM:611881
HP:0010972	Anemia of inadequate production	171023	ASXL1	ORPHA:98849
HP:0010972	Anemia of inadequate production	3815	KIT	ORPHA:98849
HP:0010972	Anemia of inadequate production	6427	SRSF2	ORPHA:98849
HP:0010972	Anemia of inadequate production	950	SCARB2	OMIM:254900
HP:0010972	Anemia of inadequate production	5826	ABCD4	OMIM:614857
HP:0010972	Anemia of inadequate production	4615	MYD88	ORPHA:33226
HP:0010972	Anemia of inadequate production	537	ATP6AP1	OMIM:300972
HP:0010972	Anemia of inadequate production	1861	TOR1A	OMIM:618947
HP:0010972	Anemia of inadequate production	219285	SAMD9L	OMIM:159550
HP:0010972	Anemia of inadequate production	219285	SAMD9L	ORPHA:2585
HP:0010972	Anemia of inadequate production	80324	PUS1	OMIM:600462
HP:0010972	Anemia of inadequate production	23395	LARS2	OMIM:617021
HP:0010972	Anemia of inadequate production	3313	HSPA9	OMIM:182170
HP:0010972	Anemia of inadequate production	51067	YARS2	OMIM:613561
HP:0010972	Anemia of inadequate production	54977	SLC25A38	OMIM:205950
HP:0010972	Anemia of inadequate production	23479	ISCU	OMIM:255125
HP:0010972	Anemia of inadequate production	63916	ELMO2	OMIM:606893
HP:0010972	Anemia of inadequate production	7040	TGFB1	OMIM:618213
HP:0010972	Anemia of inadequate production	7018	TF	OMIM:209300
HP:0010972	Anemia of inadequate production	9051	PSTPIP1	OMIM:604416
HP:0010972	Anemia of inadequate production	2658	GDF2	ORPHA:774
HP:0010972	Anemia of inadequate production	94	ACVRL1	ORPHA:774
HP:0010972	Anemia of inadequate production	4089	SMAD4	ORPHA:774
HP:0010972	Anemia of inadequate production	2022	ENG	ORPHA:774
HP:0010972	Anemia of inadequate production	3045	HBD	ORPHA:231237
HP:0010972	Anemia of inadequate production	10265	IRX5	OMIM:611174
HP:0010972	Anemia of inadequate production	2193	FARSA	OMIM:619013
HP:0010972	Anemia of inadequate production	3572	IL6ST	OMIM:619750
HP:0010972	Anemia of inadequate production	26007	TKFC	OMIM:618805
HP:0010972	Anemia of inadequate production	847	CAT	ORPHA:926
HP:0010972	Anemia of inadequate production	55109	AGGF1	ORPHA:90308
HP:0010972	Anemia of inadequate production	7456	WIPF1	ORPHA:906
HP:0010972	Anemia of inadequate production	6609	SMPD1	OMIM:257200
HP:0010972	Anemia of inadequate production	79644	SRD5A3	ORPHA:324737
HP:0010972	Anemia of inadequate production	79644	SRD5A3	OMIM:612379
HP:0010972	Anemia of inadequate production	112812	FDX2	OMIM:251900
HP:0010972	Anemia of inadequate production	1468	SLC25A10	OMIM:618972
HP:0010972	Anemia of inadequate production	8737	RIPK1	OMIM:618852
HP:0010972	Anemia of inadequate production	8803	SUCLA2	OMIM:612073
HP:0010972	Anemia of inadequate production	3658	IREB2	OMIM:618451
HP:0010972	Anemia of inadequate production	7010	TEK	ORPHA:1059
HP:0010972	Anemia of inadequate production	55315	SLC29A3	ORPHA:168569
HP:0010972	Anemia of inadequate production	2542	SLC37A4	OMIM:619525
HP:0010972	Anemia of inadequate production	89874	SLC25A21	OMIM:618811
HP:0010972	Anemia of inadequate production	5696	PSMB8	OMIM:256040
HP:0010972	Anemia of inadequate production	2235	FECH	ORPHA:79278
HP:0010972	Anemia of inadequate production	55343	SLC35C1	ORPHA:99843
HP:0010972	Anemia of inadequate production	10059	DNM1L	ORPHA:98673
HP:0010972	Anemia of inadequate production	4976	OPA1	ORPHA:98673
HP:0010972	Anemia of inadequate production	119559	SFXN4	OMIM:615578
HP:0010972	Anemia of inadequate production	6023	RMRP	OMIM:250250
HP:0010972	Anemia of inadequate production	51520	LARS1	OMIM:615438
HP:0010972	Anemia of inadequate production	6948	TCN2	OMIM:275350
HP:0010972	Anemia of inadequate production	5700	PSMC1	OMIM:620071
HP:0010972	Anemia of inadequate production	7317	UBA1	OMIM:301054
HP:0010972	Anemia of inadequate production	1352	COX10	OMIM:619046
HP:0010972	Anemia of inadequate production	5880	RAC2	OMIM:608203
HP:0010972	Anemia of inadequate production	6005	RHAG	ORPHA:71275
HP:0010972	Anemia of inadequate production	6006	RHCE	ORPHA:71275
HP:0010972	Anemia of inadequate production	6007	RHD	ORPHA:71275
HP:0010972	Anemia of inadequate production	134218	DNAJC21	ORPHA:811
HP:0010972	Anemia of inadequate production	79631	EFL1	ORPHA:811
HP:0010972	Anemia of inadequate production	51119	SBDS	ORPHA:811
HP:0010972	Anemia of inadequate production	6729	SRP54	ORPHA:811
HP:0010972	Anemia of inadequate production	4598	MVK	OMIM:610377
HP:0010972	Anemia of inadequate production	7372	UMPS	OMIM:258900
HP:0010972	Anemia of inadequate production	9663	LPIN2	ORPHA:77297
HP:0010972	Anemia of inadequate production	29775	CARD10	OMIM:619632
HP:0010972	Anemia of inadequate production	51095	TRNT1	OMIM:616084
HP:0010972	Anemia of inadequate production	131118	DNAJC19	ORPHA:66634
HP:0010972	Anemia of inadequate production	3040	HBA2	OMIM:604131
HP:0010972	Anemia of inadequate production	3039	HBA1	OMIM:604131
HP:0010972	Anemia of inadequate production	53335	BCL11A	ORPHA:251380
HP:0010972	Anemia of inadequate production	10661	KLF1	ORPHA:251380
HP:0010972	Anemia of inadequate production	3047	HBG1	ORPHA:251380
HP:0010972	Anemia of inadequate production	3048	HBG2	ORPHA:251380
HP:0010972	Anemia of inadequate production	28962	OSTM1	OMIM:259720
HP:0010972	Anemia of inadequate production	22	ABCB7	OMIM:301310
HP:0010972	Anemia of inadequate production	3735	KARS1	OMIM:619147
HP:0010972	Anemia of inadequate production	205327	C2orf69	OMIM:619423
HP:0010972	Anemia of inadequate production	150274	HSCB	OMIM:619523
HP:0010972	Anemia of inadequate production	164656	TMPRSS6	OMIM:206200
HP:0010972	Anemia of inadequate production	1356	CP	ORPHA:48818
HP:0010972	Anemia of inadequate production	23729	SHPK	ORPHA:440713
HP:0010972	Anemia of inadequate production	6901	TAFAZZIN	OMIM:302060
HP:0010972	Anemia of inadequate production	113235	SLC46A1	OMIM:229050
HP:0010972	Anemia of inadequate production	6573	SLC19A1	OMIM:601775
HP:0010972	Anemia of inadequate production	10560	SLC19A2	OMIM:249270
HP:0010972	Anemia of inadequate production	6208	RPS14	OMIM:153550
HP:0010972	Anemia of inadequate production	55163	PNPO	ORPHA:79096
HP:0010972	Anemia of inadequate production	672	BRCA1	ORPHA:84
HP:0010972	Anemia of inadequate production	10459	MAD2L2	ORPHA:84
HP:0010972	Anemia of inadequate production	7516	XRCC2	ORPHA:84
HP:0010972	Anemia of inadequate production	29089	UBE2T	ORPHA:84
HP:0010972	Anemia of inadequate production	675	BRCA2	ORPHA:84
HP:0010972	Anemia of inadequate production	55120	FANCL	ORPHA:84
HP:0010972	Anemia of inadequate production	2177	FANCD2	ORPHA:84
HP:0010972	Anemia of inadequate production	2175	FANCA	ORPHA:84
HP:0010972	Anemia of inadequate production	2187	FANCB	ORPHA:84
HP:0010972	Anemia of inadequate production	2176	FANCC	ORPHA:84
HP:0010972	Anemia of inadequate production	2178	FANCE	ORPHA:84
HP:0010972	Anemia of inadequate production	2188	FANCF	ORPHA:84
HP:0010972	Anemia of inadequate production	2189	FANCG	ORPHA:84
HP:0010972	Anemia of inadequate production	5888	RAD51	ORPHA:84
HP:0010972	Anemia of inadequate production	5889	RAD51C	ORPHA:84
HP:0010972	Anemia of inadequate production	55159	RFWD3	ORPHA:84
HP:0010972	Anemia of inadequate production	83990	BRIP1	ORPHA:84
HP:0010972	Anemia of inadequate production	57697	FANCM	ORPHA:84
HP:0010972	Anemia of inadequate production	79728	PALB2	ORPHA:84
HP:0010972	Anemia of inadequate production	84464	SLX4	ORPHA:84
HP:0010972	Anemia of inadequate production	2072	ERCC4	ORPHA:84
HP:0010972	Anemia of inadequate production	55215	FANCI	ORPHA:84
HP:0010972	Anemia of inadequate production	6135	RPL11	ORPHA:124
HP:0010972	Anemia of inadequate production	6138	RPL15	ORPHA:124
HP:0010972	Anemia of inadequate production	6229	RPS24	ORPHA:124
HP:0010972	Anemia of inadequate production	6125	RPL5	ORPHA:124
HP:0010972	Anemia of inadequate production	6204	RPS10	ORPHA:124
HP:0010972	Anemia of inadequate production	6224	RPS20	ORPHA:124
HP:0010972	Anemia of inadequate production	6165	RPL35A	ORPHA:124
HP:0010972	Anemia of inadequate production	2623	GATA1	ORPHA:124
HP:0010972	Anemia of inadequate production	6223	RPS19	ORPHA:124
HP:0010972	Anemia of inadequate production	6232	RPS27	ORPHA:124
HP:0010972	Anemia of inadequate production	6231	RPS26	ORPHA:124
HP:0010972	Anemia of inadequate production	11224	RPL35	ORPHA:124
HP:0010972	Anemia of inadequate production	6160	RPL31	ORPHA:124
HP:0010972	Anemia of inadequate production	6218	RPS17	ORPHA:124
HP:0010972	Anemia of inadequate production	6201	RPS7	ORPHA:124
HP:0010972	Anemia of inadequate production	6155	RPL27	ORPHA:124
HP:0010972	Anemia of inadequate production	6154	RPL26	ORPHA:124
HP:0010972	Anemia of inadequate production	6210	RPS15A	ORPHA:124
HP:0010972	Anemia of inadequate production	90121	TSR2	ORPHA:124
HP:0010972	Anemia of inadequate production	6141	RPL18	ORPHA:124
HP:0010972	Anemia of inadequate production	6235	RPS29	ORPHA:124
HP:0010972	Anemia of inadequate production	6234	RPS28	ORPHA:124
HP:0010972	Anemia of inadequate production	51816	ADA2	ORPHA:124
HP:0010972	Anemia of inadequate production	29127	RACGAP1	OMIM:619789
HP:0010972	Anemia of inadequate production	146059	CDAN1	OMIM:224120
HP:0010972	Anemia of inadequate production	4522	MTHFD1	OMIM:617780
HP:0010972	Anemia of inadequate production	10483	SEC23B	OMIM:224100
HP:0010972	Anemia of inadequate production	84529	CDIN1	OMIM:615631
HP:0010972	Anemia of inadequate production	54790	TET2	ORPHA:98826
HP:0010972	Anemia of inadequate production	54790	TET2	ORPHA:75564
HP:0010972	Anemia of inadequate production	84701	COX4I2	OMIM:612714
HP:0010972	Anemia of inadequate production	9493	KIF23	OMIM:105600
HP:0010972	Anemia of inadequate production	6521	SLC4A1	ORPHA:3202
HP:0010972	Anemia of inadequate production	9780	PIEZO1	ORPHA:3202
HP:0010972	Anemia of inadequate production	3783	KCNN4	ORPHA:3202
HP:0010972	Anemia of inadequate production	23451	SF3B1	ORPHA:75564
HP:0005502	Increased red cell osmotic fragility	2035	EPB41	ORPHA:288
HP:0005502	Increased red cell osmotic fragility	2995	GYPC	ORPHA:288
HP:0005502	Increased red cell osmotic fragility	6710	SPTB	ORPHA:288
HP:0005502	Increased red cell osmotic fragility	6710	SPTB	OMIM:616649
HP:0005502	Increased red cell osmotic fragility	6710	SPTB	ORPHA:822
HP:0005502	Increased red cell osmotic fragility	6708	SPTA1	ORPHA:288
HP:0005502	Increased red cell osmotic fragility	6708	SPTA1	ORPHA:822
HP:0005502	Increased red cell osmotic fragility	5313	PKLR	OMIM:266200
HP:0005502	Increased red cell osmotic fragility	6005	RHAG	OMIM:185000
HP:0005502	Increased red cell osmotic fragility	6005	RHAG	OMIM:268150
HP:0005502	Increased red cell osmotic fragility	6005	RHAG	ORPHA:3203
HP:0005502	Increased red cell osmotic fragility	6005	RHAG	ORPHA:71275
HP:0005502	Increased red cell osmotic fragility	6521	SLC4A1	OMIM:612653
HP:0005502	Increased red cell osmotic fragility	6521	SLC4A1	ORPHA:3202
HP:0005502	Increased red cell osmotic fragility	6521	SLC4A1	ORPHA:822
HP:0005502	Increased red cell osmotic fragility	9780	PIEZO1	ORPHA:3202
HP:0005502	Increased red cell osmotic fragility	3783	KCNN4	ORPHA:3202
HP:0005502	Increased red cell osmotic fragility	2038	EPB42	OMIM:612690
HP:0005502	Increased red cell osmotic fragility	2038	EPB42	ORPHA:822
HP:0005502	Increased red cell osmotic fragility	6006	RHCE	ORPHA:71275
HP:0005502	Increased red cell osmotic fragility	6007	RHD	ORPHA:71275
HP:0005502	Increased red cell osmotic fragility	286	ANK1	OMIM:182900
HP:0005502	Increased red cell osmotic fragility	286	ANK1	ORPHA:822
HP:0001878	Hemolytic anemia	2811	GP1BA	OMIM:153670
HP:0001878	Hemolytic anemia	2235	FECH	OMIM:177000
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:185020
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:612653
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:166900
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:611590
HP:0001878	Hemolytic anemia	6521	SLC4A1	ORPHA:3202
HP:0001878	Hemolytic anemia	3783	KCNN4	OMIM:616689
HP:0001878	Hemolytic anemia	3783	KCNN4	ORPHA:3202
HP:0001878	Hemolytic anemia	6513	SLC2A1	OMIM:612126
HP:0001878	Hemolytic anemia	6513	SLC2A1	OMIM:608885
HP:0001878	Hemolytic anemia	5238	PGM3	ORPHA:443811
HP:0001878	Hemolytic anemia	5238	PGM3	OMIM:615816
HP:0001878	Hemolytic anemia	959	CD40LG	OMIM:308230
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:130600
HP:0001878	Hemolytic anemia	6708	SPTA1	ORPHA:288
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:266140
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:270970
HP:0001878	Hemolytic anemia	3162	HMOX1	OMIM:614034
HP:0001878	Hemolytic anemia	8526	DGKE	OMIM:615008
HP:0001878	Hemolytic anemia	2729	GCLC	OMIM:230450
HP:0001878	Hemolytic anemia	2729	GCLC	ORPHA:33574
HP:0001878	Hemolytic anemia	6005	RHAG	OMIM:185000
HP:0001878	Hemolytic anemia	6005	RHAG	OMIM:268150
HP:0001878	Hemolytic anemia	6005	RHAG	ORPHA:3203
HP:0001878	Hemolytic anemia	6005	RHAG	ORPHA:71275
HP:0001878	Hemolytic anemia	2937	GSS	OMIM:231900
HP:0001878	Hemolytic anemia	2937	GSS	OMIM:266130
HP:0001878	Hemolytic anemia	103	ADAR	OMIM:615010
HP:0001878	Hemolytic anemia	7128	TNFAIP3	OMIM:616744
HP:0001878	Hemolytic anemia	966	CD59	OMIM:612300
HP:0001878	Hemolytic anemia	7389	UROD	ORPHA:95159
HP:0001878	Hemolytic anemia	5277	PIGA	ORPHA:447
HP:0001878	Hemolytic anemia	2035	EPB41	ORPHA:288
HP:0001878	Hemolytic anemia	2035	EPB41	OMIM:611804
HP:0001878	Hemolytic anemia	2995	GYPC	ORPHA:288
HP:0001878	Hemolytic anemia	2623	GATA1	OMIM:314050
HP:0001878	Hemolytic anemia	2623	GATA1	OMIM:301083
HP:0001878	Hemolytic anemia	2623	GATA1	ORPHA:79277
HP:0001878	Hemolytic anemia	1371	CPOX	OMIM:618892
HP:0001878	Hemolytic anemia	79415	CYBC1	OMIM:618935
HP:0001878	Hemolytic anemia	10058	ABCB6	OMIM:609153
HP:0001878	Hemolytic anemia	23495	TNFRSF13B	ORPHA:1572
HP:0001878	Hemolytic anemia	4791	NFKB2	ORPHA:1572
HP:0001878	Hemolytic anemia	115650	TNFRSF13C	ORPHA:1572
HP:0001878	Hemolytic anemia	1380	CR2	ORPHA:1572
HP:0001878	Hemolytic anemia	8742	TNFSF12	ORPHA:1572
HP:0001878	Hemolytic anemia	930	CD19	ORPHA:1572
HP:0001878	Hemolytic anemia	29851	ICOS	ORPHA:1572
HP:0001878	Hemolytic anemia	931	MS4A1	ORPHA:1572
HP:0001878	Hemolytic anemia	975	CD81	ORPHA:1572
HP:0001878	Hemolytic anemia	359948	IRF2BP2	ORPHA:1572
HP:0001878	Hemolytic anemia	2783	GNB2	OMIM:619503
HP:0001878	Hemolytic anemia	5230	PGK1	ORPHA:713
HP:0001878	Hemolytic anemia	5230	PGK1	OMIM:300653
HP:0001878	Hemolytic anemia	56244	BTNL2	ORPHA:797
HP:0001878	Hemolytic anemia	3123	HLA-DRB1	ORPHA:797
HP:0001878	Hemolytic anemia	51604	PIGT	OMIM:615399
HP:0001878	Hemolytic anemia	2592	GALT	OMIM:230400
HP:0001878	Hemolytic anemia	7456	WIPF1	ORPHA:906
HP:0001878	Hemolytic anemia	1282	COL4A1	OMIM:175780
HP:0001878	Hemolytic anemia	286	ANK1	ORPHA:251066
HP:0001878	Hemolytic anemia	286	ANK1	OMIM:182900
HP:0001878	Hemolytic anemia	286410	ATP11C	OMIM:301015
HP:0001878	Hemolytic anemia	3931	LCAT	OMIM:245900
HP:0001878	Hemolytic anemia	100147744	RNU7-1	OMIM:619487
HP:0001878	Hemolytic anemia	3845	KRAS	OMIM:614470
HP:0001878	Hemolytic anemia	4893	NRAS	OMIM:614470
HP:0001878	Hemolytic anemia	2038	EPB42	OMIM:612690
HP:0001878	Hemolytic anemia	64135	IFIH1	OMIM:615846
HP:0001878	Hemolytic anemia	540	ATP7B	OMIM:277900
HP:0001878	Hemolytic anemia	7390	UROS	OMIM:263700
HP:0001878	Hemolytic anemia	7390	UROS	ORPHA:79277
HP:0001878	Hemolytic anemia	10661	KLF1	OMIM:613673
HP:0001878	Hemolytic anemia	210	ALAD	OMIM:612740
HP:0001878	Hemolytic anemia	5213	PFKM	OMIM:232800
HP:0001878	Hemolytic anemia	226	ALDOA	ORPHA:57
HP:0001878	Hemolytic anemia	51251	NT5C3A	OMIM:266120
HP:0001878	Hemolytic anemia	146059	CDAN1	OMIM:224120
HP:0001878	Hemolytic anemia	2212	FCGR2A	OMIM:152700
HP:0001878	Hemolytic anemia	2213	FCGR2B	OMIM:152700
HP:0001878	Hemolytic anemia	26191	PTPN22	OMIM:152700
HP:0001878	Hemolytic anemia	11277	TREX1	OMIM:152700
HP:0001878	Hemolytic anemia	1773	DNASE1	OMIM:152700
HP:0001878	Hemolytic anemia	203	AK1	OMIM:612631
HP:0001878	Hemolytic anemia	6006	RHCE	ORPHA:71275
HP:0001878	Hemolytic anemia	6007	RHD	ORPHA:71275
HP:0001878	Hemolytic anemia	8085	KMT2D	OMIM:147920
HP:0001878	Hemolytic anemia	7403	KDM6A	OMIM:147920
HP:0001878	Hemolytic anemia	355	FAS	ORPHA:3261
HP:0001878	Hemolytic anemia	355	FAS	OMIM:601859
HP:0001878	Hemolytic anemia	356	FASLG	ORPHA:3261
HP:0001878	Hemolytic anemia	356	FASLG	OMIM:601859
HP:0001878	Hemolytic anemia	5580	PRKCD	ORPHA:3261
HP:0001878	Hemolytic anemia	5580	PRKCD	OMIM:615559
HP:0001878	Hemolytic anemia	843	CASP10	ORPHA:3261
HP:0001878	Hemolytic anemia	843	CASP10	OMIM:603909
HP:0001878	Hemolytic anemia	10125	RASGRP1	ORPHA:3261
HP:0001878	Hemolytic anemia	10125	RASGRP1	OMIM:618534
HP:0001878	Hemolytic anemia	6772	STAT1	ORPHA:391487
HP:0001878	Hemolytic anemia	6772	STAT1	OMIM:614162
HP:0001878	Hemolytic anemia	10043	TOM1	ORPHA:391487
HP:0001878	Hemolytic anemia	7454	WAS	OMIM:301000
HP:0001878	Hemolytic anemia	57217	TTC7A	OMIM:243150
HP:0001878	Hemolytic anemia	57217	TTC7A	ORPHA:436252
HP:0001878	Hemolytic anemia	3702	ITK	OMIM:613011
HP:0001878	Hemolytic anemia	4683	NBN	OMIM:251260
HP:0001878	Hemolytic anemia	4683	NBN	ORPHA:647
HP:0001878	Hemolytic anemia	6774	STAT3	OMIM:615952
HP:0001878	Hemolytic anemia	4860	PNP	OMIM:613179
HP:0001878	Hemolytic anemia	4860	PNP	ORPHA:760
HP:0001878	Hemolytic anemia	987	LRBA	OMIM:614700
HP:0001878	Hemolytic anemia	7174	TPP2	ORPHA:444463
HP:0001878	Hemolytic anemia	7174	TPP2	OMIM:619220
HP:0001878	Hemolytic anemia	22861	NLRP1	OMIM:617388
HP:0001878	Hemolytic anemia	4790	NFKB1	OMIM:616576
HP:0001878	Hemolytic anemia	5294	PIK3CG	OMIM:619802
HP:0001878	Hemolytic anemia	917	CD3G	OMIM:615607
HP:0001878	Hemolytic anemia	5896	RAG1	ORPHA:231154
HP:0001878	Hemolytic anemia	5896	RAG1	ORPHA:331206
HP:0001878	Hemolytic anemia	5994	RFXAP	ORPHA:572
HP:0001878	Hemolytic anemia	4261	CIITA	ORPHA:572
HP:0001878	Hemolytic anemia	5993	RFX5	ORPHA:572
HP:0001878	Hemolytic anemia	8625	RFXANK	ORPHA:572
HP:0001878	Hemolytic anemia	3937	LCP2	OMIM:619374
HP:0001878	Hemolytic anemia	50619	DEF6	OMIM:619573
HP:0001878	Hemolytic anemia	1493	CTLA4	OMIM:616100
HP:0001878	Hemolytic anemia	919	CD247	OMIM:610163
HP:0001878	Hemolytic anemia	100	ADA	OMIM:102700
HP:0001878	Hemolytic anemia	50943	FOXP3	ORPHA:37042
HP:0001878	Hemolytic anemia	5897	RAG2	ORPHA:331206
HP:0001878	Hemolytic anemia	6786	STIM1	OMIM:612783
HP:0001878	Hemolytic anemia	5297	PI4KA	ORPHA:436252
HP:0001878	Hemolytic anemia	51311	TLR8	OMIM:301078
HP:0001878	Hemolytic anemia	56984	PSMG2	OMIM:619183
HP:0001878	Hemolytic anemia	28755	TRAC	OMIM:615387
HP:0001878	Hemolytic anemia	3560	IL2RB	OMIM:618495
HP:0001878	Hemolytic anemia	7535	ZAP70	ORPHA:911
HP:0001878	Hemolytic anemia	3559	IL2RA	OMIM:606367
HP:0001878	Hemolytic anemia	54	ACP5	ORPHA:1855
HP:0001878	Hemolytic anemia	3098	HK1	OMIM:235700
HP:0001878	Hemolytic anemia	2821	GPI	OMIM:613470
HP:0001878	Hemolytic anemia	3075	CFH	ORPHA:244242
HP:0001878	Hemolytic anemia	3075	CFH	OMIM:235400
HP:0001878	Hemolytic anemia	3426	CFI	ORPHA:244242
HP:0001878	Hemolytic anemia	3426	CFI	OMIM:612923
HP:0001878	Hemolytic anemia	4179	CD46	ORPHA:244242
HP:0001878	Hemolytic anemia	4179	CD46	OMIM:612922
HP:0001878	Hemolytic anemia	101101692	HELLPAR	ORPHA:244242
HP:0001878	Hemolytic anemia	11093	ADAMTS13	OMIM:274150
HP:0001878	Hemolytic anemia	6775	STAT4	ORPHA:93552
HP:0001878	Hemolytic anemia	6696	SPP1	ORPHA:93552
HP:0001878	Hemolytic anemia	3654	IRAK1	ORPHA:93552
HP:0001878	Hemolytic anemia	629	CFB	OMIM:612924
HP:0001878	Hemolytic anemia	7056	THBD	OMIM:612926
HP:0001878	Hemolytic anemia	3078	CFHR1	OMIM:235400
HP:0001878	Hemolytic anemia	10878	CFHR3	OMIM:235400
HP:0001878	Hemolytic anemia	718	C3	OMIM:612925
HP:0001878	Hemolytic anemia	6573	SLC19A1	OMIM:601775
HP:0001878	Hemolytic anemia	8573	CASK	OMIM:300908
HP:0001878	Hemolytic anemia	2539	G6PD	OMIM:300908
HP:0001878	Hemolytic anemia	2936	GSR	OMIM:618660
HP:0001878	Hemolytic anemia	27040	LAT	OMIM:617514
HP:0001878	Hemolytic anemia	7293	TNFRSF4	OMIM:615593
HP:0001878	Hemolytic anemia	8651	SOCS1	OMIM:619375
HP:0001878	Hemolytic anemia	2876	GPX1	OMIM:614164
HP:0001878	Hemolytic anemia	5313	PKLR	OMIM:266200
HP:0001878	Hemolytic anemia	5313	PKLR	ORPHA:766
HP:0001878	Hemolytic anemia	7167	TPI1	OMIM:615512
HP:0001878	Hemolytic anemia	374354	NHLRC2	OMIM:618278
HP:0001878	Hemolytic anemia	6710	SPTB	OMIM:617948
HP:0001878	Hemolytic anemia	64241	ABCG8	OMIM:210250
HP:0001878	Hemolytic anemia	3040	HBA2	OMIM:140700
HP:0001878	Hemolytic anemia	3043	HBB	OMIM:140700
HP:0001878	Hemolytic anemia	3039	HBA1	OMIM:140700
HP:0001878	Hemolytic anemia	9780	PIEZO1	OMIM:194380
HP:0005505	Refractory anemia	1356	CP	ORPHA:48818
HP:0005505	Refractory anemia	5728	PTEN	ORPHA:79076
HP:0005505	Refractory anemia	657	BMPR1A	ORPHA:79076
HP:0005505	Refractory anemia	657	BMPR1A	ORPHA:157794
HP:0005505	Refractory anemia	6916	TBXAS1	OMIM:231095
HP:0005505	Refractory anemia	51428	DDX41	OMIM:616871
HP:0005505	Refractory anemia	26585	GREM1	ORPHA:157794
HP:0005506	Chronic myelogenous leukemia	4352	MPL	ORPHA:71493
HP:0005506	Chronic myelogenous leukemia	7066	THPO	ORPHA:71493
HP:0005506	Chronic myelogenous leukemia	3717	JAK2	ORPHA:71493
HP:0005506	Chronic myelogenous leukemia	25	ABL1	OMIM:608232
HP:0005506	Chronic myelogenous leukemia	613	BCR	OMIM:608232
HP:0005508	Monoclonal immunoglobulin M proteinemia	4615	MYD88	ORPHA:33226
HP:0005508	Monoclonal immunoglobulin M proteinemia	4615	MYD88	OMIM:153600
HP:0001903	Anemia	2811	GP1BA	OMIM:153670
HP:0001903	Anemia	2235	FECH	OMIM:177000
HP:0001903	Anemia	5238	PGM3	ORPHA:443811
HP:0001903	Anemia	5238	PGM3	OMIM:615816
HP:0001903	Anemia	959	CD40LG	OMIM:308230
HP:0001903	Anemia	3162	HMOX1	OMIM:614034
HP:0001903	Anemia	8526	DGKE	OMIM:615008
HP:0001903	Anemia	2729	GCLC	OMIM:230450
HP:0001903	Anemia	2729	GCLC	ORPHA:33574
HP:0001903	Anemia	2937	GSS	OMIM:231900
HP:0001903	Anemia	2937	GSS	OMIM:266130
HP:0001903	Anemia	103	ADAR	OMIM:615010
HP:0001903	Anemia	7128	TNFAIP3	OMIM:616744
HP:0001903	Anemia	966	CD59	OMIM:612300
HP:0001903	Anemia	7389	UROD	ORPHA:95159
HP:0001903	Anemia	2035	EPB41	ORPHA:288
HP:0001903	Anemia	2035	EPB41	OMIM:611804
HP:0001903	Anemia	2995	GYPC	ORPHA:288
HP:0001903	Anemia	79415	CYBC1	OMIM:618935
HP:0001903	Anemia	10058	ABCB6	OMIM:609153
HP:0001903	Anemia	23495	TNFRSF13B	ORPHA:1572
HP:0001903	Anemia	4791	NFKB2	ORPHA:1572
HP:0001903	Anemia	115650	TNFRSF13C	ORPHA:1572
HP:0001903	Anemia	1380	CR2	ORPHA:1572
HP:0001903	Anemia	8742	TNFSF12	ORPHA:1572
HP:0001903	Anemia	930	CD19	ORPHA:1572
HP:0001903	Anemia	29851	ICOS	ORPHA:1572
HP:0001903	Anemia	931	MS4A1	ORPHA:1572
HP:0001903	Anemia	975	CD81	ORPHA:1572
HP:0001903	Anemia	2783	GNB2	OMIM:619503
HP:0001903	Anemia	5230	PGK1	ORPHA:713
HP:0001903	Anemia	5230	PGK1	OMIM:300653
HP:0001903	Anemia	51604	PIGT	OMIM:615399
HP:0001903	Anemia	2592	GALT	OMIM:230400
HP:0001903	Anemia	1282	COL4A1	OMIM:175780
HP:0001903	Anemia	286410	ATP11C	OMIM:301015
HP:0001903	Anemia	3931	LCAT	OMIM:245900
HP:0001903	Anemia	3845	KRAS	OMIM:614470
HP:0001903	Anemia	4893	NRAS	OMIM:614470
HP:0001903	Anemia	7390	UROS	OMIM:263700
HP:0001903	Anemia	7390	UROS	ORPHA:79277
HP:0001903	Anemia	210	ALAD	OMIM:612740
HP:0001903	Anemia	51251	NT5C3A	OMIM:266120
HP:0001903	Anemia	2212	FCGR2A	OMIM:152700
HP:0001903	Anemia	2213	FCGR2B	OMIM:152700
HP:0001903	Anemia	11277	TREX1	OMIM:152700
HP:0001903	Anemia	1773	DNASE1	OMIM:152700
HP:0001903	Anemia	203	AK1	OMIM:612631
HP:0001903	Anemia	8085	KMT2D	OMIM:147920
HP:0001903	Anemia	7403	KDM6A	OMIM:147920
HP:0001903	Anemia	8029	CUBN	ORPHA:35858
HP:0001903	Anemia	8029	CUBN	OMIM:261100
HP:0001903	Anemia	81693	AMN	ORPHA:35858
HP:0001903	Anemia	81693	AMN	OMIM:618882
HP:0001903	Anemia	2694	CBLIF	OMIM:261000
HP:0001903	Anemia	25974	MMACHC	ORPHA:79282
HP:0001903	Anemia	25974	MMACHC	OMIM:277400
HP:0001903	Anemia	27249	MMADHC	OMIM:277410
HP:0001903	Anemia	1719	DHFR	OMIM:613839
HP:0001903	Anemia	113235	SLC46A1	ORPHA:90045
HP:0001903	Anemia	4552	MTRR	OMIM:236270
HP:0001903	Anemia	4522	MTHFD1	OMIM:617780
HP:0001903	Anemia	26227	PHGDH	OMIM:601815
HP:0001903	Anemia	26227	PHGDH	ORPHA:79351
HP:0001903	Anemia	4548	MTR	OMIM:250940
HP:0001903	Anemia	5052	PRDX1	OMIM:277400
HP:0001903	Anemia	5580	PRKCD	ORPHA:3261
HP:0001903	Anemia	5580	PRKCD	OMIM:615559
HP:0001903	Anemia	10125	RASGRP1	ORPHA:3261
HP:0001903	Anemia	10125	RASGRP1	OMIM:618534
HP:0001903	Anemia	6772	STAT1	ORPHA:391487
HP:0001903	Anemia	6772	STAT1	OMIM:614162
HP:0001903	Anemia	10043	TOM1	ORPHA:391487
HP:0001903	Anemia	57217	TTC7A	OMIM:243150
HP:0001903	Anemia	57217	TTC7A	ORPHA:436252
HP:0001903	Anemia	3702	ITK	OMIM:613011
HP:0001903	Anemia	4683	NBN	OMIM:251260
HP:0001903	Anemia	4683	NBN	ORPHA:647
HP:0001903	Anemia	6774	STAT3	OMIM:615952
HP:0001903	Anemia	4860	PNP	OMIM:613179
HP:0001903	Anemia	4860	PNP	ORPHA:760
HP:0001903	Anemia	987	LRBA	OMIM:614700
HP:0001903	Anemia	7174	TPP2	ORPHA:444463
HP:0001903	Anemia	7174	TPP2	OMIM:619220
HP:0001903	Anemia	22861	NLRP1	OMIM:617388
HP:0001903	Anemia	4790	NFKB1	OMIM:616576
HP:0001903	Anemia	5294	PIK3CG	OMIM:619802
HP:0001903	Anemia	917	CD3G	OMIM:615607
HP:0001903	Anemia	5896	RAG1	ORPHA:231154
HP:0001903	Anemia	5896	RAG1	ORPHA:331206
HP:0001903	Anemia	5994	RFXAP	ORPHA:572
HP:0001903	Anemia	4261	CIITA	ORPHA:572
HP:0001903	Anemia	5993	RFX5	ORPHA:572
HP:0001903	Anemia	8625	RFXANK	ORPHA:572
HP:0001903	Anemia	3937	LCP2	OMIM:619374
HP:0001903	Anemia	50619	DEF6	OMIM:619573
HP:0001903	Anemia	1493	CTLA4	OMIM:616100
HP:0001903	Anemia	919	CD247	OMIM:610163
HP:0001903	Anemia	100	ADA	OMIM:102700
HP:0001903	Anemia	5897	RAG2	ORPHA:331206
HP:0001903	Anemia	6786	STIM1	OMIM:612783
HP:0001903	Anemia	5297	PI4KA	ORPHA:436252
HP:0001903	Anemia	51311	TLR8	OMIM:301078
HP:0001903	Anemia	56984	PSMG2	OMIM:619183
HP:0001903	Anemia	28755	TRAC	OMIM:615387
HP:0001903	Anemia	3560	IL2RB	OMIM:618495
HP:0001903	Anemia	7535	ZAP70	ORPHA:911
HP:0001903	Anemia	3559	IL2RA	OMIM:606367
HP:0001903	Anemia	54	ACP5	ORPHA:1855
HP:0001903	Anemia	3043	HBB	ORPHA:232
HP:0001903	Anemia	7454	WAS	OMIM:301000
HP:0001903	Anemia	8074	FGF23	ORPHA:89937
HP:0001903	Anemia	324	APC	ORPHA:261584
HP:0001903	Anemia	2590	GALNT2	OMIM:618885
HP:0001903	Anemia	212	ALAS2	OMIM:300752
HP:0001903	Anemia	85365	ALG2	OMIM:607906
HP:0001903	Anemia	8260	NAA10	OMIM:300855
HP:0001903	Anemia	2335	FN1	ORPHA:93315
HP:0001903	Anemia	1280	COL2A1	ORPHA:93315
HP:0001903	Anemia	50943	FOXP3	ORPHA:37042
HP:0001903	Anemia	3753	KCNE1	ORPHA:90647
HP:0001903	Anemia	3784	KCNQ1	ORPHA:90647
HP:0001903	Anemia	6794	STK11	OMIM:175200
HP:0001903	Anemia	3117	HLA-DQA1	OMIM:212750
HP:0001903	Anemia	3119	HLA-DQB1	OMIM:212750
HP:0001903	Anemia	9451	EIF2AK3	ORPHA:1667
HP:0001903	Anemia	2000	ELF4	OMIM:301074
HP:0001903	Anemia	1616	DAXX	ORPHA:100075
HP:0001903	Anemia	546	ATRX	ORPHA:100075
HP:0001903	Anemia	4312	MMP1	ORPHA:79408
HP:0001903	Anemia	1294	COL7A1	ORPHA:79408
HP:0001903	Anemia	1604	CD55	OMIM:226300
HP:0001903	Anemia	374879	ZNF699	OMIM:619488
HP:0001903	Anemia	10845	CLPX	OMIM:618015
HP:0001903	Anemia	5825	ABCD3	OMIM:616278
HP:0001903	Anemia	5321	PLA2G4A	OMIM:618372
HP:0001903	Anemia	355	FAS	OMIM:601859
HP:0001903	Anemia	356	FASLG	OMIM:601859
HP:0001903	Anemia	843	CASP10	OMIM:603909
HP:0001903	Anemia	1188	CLCNKB	ORPHA:358
HP:0001903	Anemia	6559	SLC12A3	ORPHA:358
HP:0001903	Anemia	7386	UQCRFS1	OMIM:618775
HP:0001903	Anemia	3098	HK1	OMIM:235700
HP:0001903	Anemia	5826	ABCD4	OMIM:614857
HP:0001903	Anemia	4615	MYD88	ORPHA:33226
HP:0001903	Anemia	537	ATP6AP1	OMIM:300972
HP:0001903	Anemia	1861	TOR1A	OMIM:618947
HP:0001903	Anemia	261734	NPHP4	OMIM:606996
HP:0001903	Anemia	261734	NPHP4	OMIM:606966
HP:0001903	Anemia	55240	STEAP3	OMIM:615234
HP:0001903	Anemia	55240	STEAP3	ORPHA:300298
HP:0001903	Anemia	84334	COA8	ORPHA:436271
HP:0001903	Anemia	81570	CLPB	OMIM:619835
HP:0001903	Anemia	1736	DKC1	OMIM:305000
HP:0001903	Anemia	1736	DKC1	ORPHA:3322
HP:0001903	Anemia	1736	DKC1	ORPHA:1775
HP:0001903	Anemia	1161	ERCC8	ORPHA:90321
HP:0001903	Anemia	2072	ERCC4	ORPHA:90321
HP:0001903	Anemia	2072	ERCC4	ORPHA:84
HP:0001903	Anemia	2074	ERCC6	ORPHA:90321
HP:0001903	Anemia	3909	LAMA3	ORPHA:79404
HP:0001903	Anemia	3909	LAMA3	ORPHA:79402
HP:0001903	Anemia	3918	LAMC2	ORPHA:79404
HP:0001903	Anemia	3918	LAMC2	ORPHA:79402
HP:0001903	Anemia	3914	LAMB3	ORPHA:79404
HP:0001903	Anemia	3914	LAMB3	ORPHA:79402
HP:0001903	Anemia	114803	MYSM1	ORPHA:508542
HP:0001903	Anemia	114803	MYSM1	OMIM:618116
HP:0001903	Anemia	1308	COL17A1	ORPHA:79406
HP:0001903	Anemia	1308	COL17A1	ORPHA:79402
HP:0001903	Anemia	4867	NPHP1	OMIM:266900
HP:0001903	Anemia	4867	NPHP1	OMIM:256100
HP:0001903	Anemia	249	ALPL	OMIM:241500
HP:0001903	Anemia	4141	MARS1	OMIM:615486
HP:0001903	Anemia	2050	EPHB4	OMIM:617300
HP:0001903	Anemia	2175	FANCA	OMIM:227650
HP:0001903	Anemia	2175	FANCA	ORPHA:84
HP:0001903	Anemia	2120	ETV6	OMIM:616216
HP:0001903	Anemia	790	CAD	OMIM:616457
HP:0001903	Anemia	5184	PEPD	OMIM:170100
HP:0001903	Anemia	65082	VPS33A	OMIM:617303
HP:0001903	Anemia	65082	VPS33A	ORPHA:505248
HP:0001903	Anemia	2188	FANCF	OMIM:603467
HP:0001903	Anemia	2188	FANCF	ORPHA:84
HP:0001903	Anemia	5428	POLG	ORPHA:298
HP:0001903	Anemia	1890	TYMP	ORPHA:298
HP:0001903	Anemia	3980	LIG3	ORPHA:298
HP:0001903	Anemia	50484	RRM2B	ORPHA:298
HP:0001903	Anemia	5745	PTH1R	ORPHA:296
HP:0001903	Anemia	3418	IDH2	ORPHA:296
HP:0001903	Anemia	3417	IDH1	ORPHA:296
HP:0001903	Anemia	6023	RMRP	ORPHA:175
HP:0001903	Anemia	6023	RMRP	OMIM:250250
HP:0001903	Anemia	6023	RMRP	ORPHA:39041
HP:0001903	Anemia	3045	HBD	ORPHA:231237
HP:0001903	Anemia	4089	SMAD4	OMIM:174900
HP:0001903	Anemia	4089	SMAD4	OMIM:175050
HP:0001903	Anemia	4089	SMAD4	ORPHA:329971
HP:0001903	Anemia	657	BMPR1A	OMIM:174900
HP:0001903	Anemia	657	BMPR1A	ORPHA:79076
HP:0001903	Anemia	657	BMPR1A	ORPHA:329971
HP:0001903	Anemia	6773	STAT2	OMIM:618886
HP:0001903	Anemia	3691	ITGB4	ORPHA:79402
HP:0001903	Anemia	1130	LYST	ORPHA:167
HP:0001903	Anemia	1130	LYST	OMIM:214500
HP:0001903	Anemia	2624	GATA2	OMIM:614172
HP:0001903	Anemia	5442	POLRMT	OMIM:619743
HP:0001903	Anemia	80739	MPIG6B	OMIM:617441
HP:0001903	Anemia	2313	FLI1	ORPHA:370348
HP:0001903	Anemia	3981	LIG4	ORPHA:235
HP:0001903	Anemia	3981	LIG4	ORPHA:39041
HP:0001903	Anemia	54888	NSUN2	ORPHA:235
HP:0001903	Anemia	9056	SLC7A7	ORPHA:470
HP:0001903	Anemia	9056	SLC7A7	OMIM:222700
HP:0001903	Anemia	1621	DBH	ORPHA:230
HP:0001903	Anemia	5972	REN	OMIM:613092
HP:0001903	Anemia	595	CCND1	ORPHA:29073
HP:0001903	Anemia	54914	FOCAD	OMIM:619991
HP:0001903	Anemia	54440	SASH3	OMIM:301082
HP:0001903	Anemia	166785	MMAA	OMIM:251100
HP:0001903	Anemia	64421	DCLRE1C	OMIM:603554
HP:0001903	Anemia	64421	DCLRE1C	ORPHA:39041
HP:0001903	Anemia	5551	PRF1	OMIM:603553
HP:0001903	Anemia	5551	PRF1	ORPHA:540
HP:0001903	Anemia	5551	PRF1	ORPHA:88
HP:0001903	Anemia	8676	STX11	OMIM:603552
HP:0001903	Anemia	8676	STX11	ORPHA:540
HP:0001903	Anemia	11311	VPS45	OMIM:615285
HP:0001903	Anemia	50485	SMARCAL1	ORPHA:1830
HP:0001903	Anemia	50485	SMARCAL1	OMIM:242900
HP:0001903	Anemia	2542	SLC37A4	OMIM:619525
HP:0001903	Anemia	2542	SLC37A4	ORPHA:79259
HP:0001903	Anemia	540	ATP7B	OMIM:277900
HP:0001903	Anemia	540	ATP7B	ORPHA:905
HP:0001903	Anemia	19	ABCA1	ORPHA:31150
HP:0001903	Anemia	90	ACVR1	ORPHA:337
HP:0001903	Anemia	5213	PFKM	ORPHA:371
HP:0001903	Anemia	2189	FANCG	OMIM:614082
HP:0001903	Anemia	2189	FANCG	ORPHA:84
HP:0001903	Anemia	55612	FERMT1	ORPHA:2908
HP:0001903	Anemia	5692	PSMB4	OMIM:617591
HP:0001903	Anemia	5698	PSMB9	OMIM:617591
HP:0001903	Anemia	55120	FANCL	OMIM:614083
HP:0001903	Anemia	55120	FANCL	ORPHA:84
HP:0001903	Anemia	6603	SMARCD2	OMIM:617475
HP:0001903	Anemia	8565	YARS1	OMIM:619418
HP:0001903	Anemia	2157	F8	ORPHA:169802
HP:0001903	Anemia	2184	FAH	OMIM:276700
HP:0001903	Anemia	404672	GTF2H5	ORPHA:33364
HP:0001903	Anemia	833	CARS1	ORPHA:33364
HP:0001903	Anemia	2068	ERCC2	ORPHA:33364
HP:0001903	Anemia	7737	RNF113A	ORPHA:33364
HP:0001903	Anemia	136647	MPLKIP	ORPHA:33364
HP:0001903	Anemia	6897	TARS1	ORPHA:33364
HP:0001903	Anemia	2071	ERCC3	ORPHA:33364
HP:0001903	Anemia	2961	GTF2E2	ORPHA:33364
HP:0001903	Anemia	64127	NOD2	ORPHA:90340
HP:0001903	Anemia	79053	ALG8	ORPHA:79325
HP:0001903	Anemia	79053	ALG8	OMIM:608104
HP:0001903	Anemia	2629	GBA1	ORPHA:77261
HP:0001903	Anemia	2629	GBA1	ORPHA:77259
HP:0001903	Anemia	2629	GBA1	OMIM:230800
HP:0001903	Anemia	2629	GBA1	ORPHA:2072
HP:0001903	Anemia	2629	GBA1	OMIM:230900
HP:0001903	Anemia	2629	GBA1	OMIM:608013
HP:0001903	Anemia	9742	IFT140	OMIM:266920
HP:0001903	Anemia	51362	CDC40	OMIM:619302
HP:0001903	Anemia	5888	RAD51	OMIM:617244
HP:0001903	Anemia	5888	RAD51	ORPHA:84
HP:0001903	Anemia	5256	PHKA2	ORPHA:264580
HP:0001903	Anemia	5261	PHKG2	ORPHA:264580
HP:0001903	Anemia	10459	MAD2L2	OMIM:617243
HP:0001903	Anemia	10459	MAD2L2	ORPHA:84
HP:0001903	Anemia	204	AK2	ORPHA:33355
HP:0001903	Anemia	846	CASR	OMIM:239200
HP:0001903	Anemia	4594	MMUT	ORPHA:79312
HP:0001903	Anemia	4594	MMUT	ORPHA:289916
HP:0001903	Anemia	950	SCARB2	ORPHA:77259
HP:0001903	Anemia	9949	AMMECR1	OMIM:300990
HP:0001903	Anemia	94	ACVRL1	OMIM:600376
HP:0001903	Anemia	3155	HMGCL	ORPHA:20
HP:0001903	Anemia	3155	HMGCL	OMIM:246450
HP:0001903	Anemia	4558	MT-TF	ORPHA:550
HP:0001903	Anemia	4572	MT-TQ	ORPHA:550
HP:0001903	Anemia	4512	MT-CO1	ORPHA:550
HP:0001903	Anemia	4513	MT-CO2	ORPHA:550
HP:0001903	Anemia	4514	MT-CO3	ORPHA:550
HP:0001903	Anemia	4578	MT-TW	ORPHA:550
HP:0001903	Anemia	4540	MT-ND5	ORPHA:550
HP:0001903	Anemia	4541	MT-ND6	ORPHA:550
HP:0001903	Anemia	4535	MT-ND1	ORPHA:550
HP:0001903	Anemia	4538	MT-ND4	ORPHA:550
HP:0001903	Anemia	4567	MT-TL1	ORPHA:550
HP:0001903	Anemia	4574	MT-TS1	ORPHA:550
HP:0001903	Anemia	4574	MT-TS1	OMIM:220110
HP:0001903	Anemia	4575	MT-TS2	ORPHA:550
HP:0001903	Anemia	4564	MT-TH	ORPHA:550
HP:0001903	Anemia	5076	PAX2	ORPHA:97362
HP:0001903	Anemia	5087	PBX1	ORPHA:97362
HP:0001903	Anemia	695	BTK	OMIM:300755
HP:0001903	Anemia	695	BTK	ORPHA:47
HP:0001903	Anemia	54892	NCAPG2	OMIM:618460
HP:0001903	Anemia	9842	PLEKHM1	OMIM:618107
HP:0001903	Anemia	9842	PLEKHM1	ORPHA:210110
HP:0001903	Anemia	4179	CD46	OMIM:612922
HP:0001903	Anemia	629	CFB	OMIM:612924
HP:0001903	Anemia	6916	TBXAS1	ORPHA:1802
HP:0001903	Anemia	3426	CFI	OMIM:612923
HP:0001903	Anemia	7056	THBD	OMIM:612926
HP:0001903	Anemia	718	C3	OMIM:612925
HP:0001903	Anemia	256297	PTF1A	OMIM:609069
HP:0001903	Anemia	10312	TCIRG1	ORPHA:667
HP:0001903	Anemia	10312	TCIRG1	OMIM:259700
HP:0001903	Anemia	10312	TCIRG1	ORPHA:210110
HP:0001903	Anemia	1186	CLCN7	ORPHA:667
HP:0001903	Anemia	1186	CLCN7	OMIM:611490
HP:0001903	Anemia	1186	CLCN7	ORPHA:53
HP:0001903	Anemia	1186	CLCN7	ORPHA:210110
HP:0001903	Anemia	29887	SNX10	ORPHA:667
HP:0001903	Anemia	29887	SNX10	OMIM:615085
HP:0001903	Anemia	8600	TNFSF11	ORPHA:667
HP:0001903	Anemia	8600	TNFSF11	OMIM:259710
HP:0001903	Anemia	201294	UNC13D	ORPHA:540
HP:0001903	Anemia	201294	UNC13D	OMIM:608898
HP:0001903	Anemia	6813	STXBP2	ORPHA:540
HP:0001903	Anemia	6813	STXBP2	OMIM:613101
HP:0001903	Anemia	6888	TALDO1	ORPHA:101028
HP:0001903	Anemia	6888	TALDO1	OMIM:606003
HP:0001903	Anemia	7372	UMPS	ORPHA:30
HP:0001903	Anemia	58484	NLRC4	OMIM:616050
HP:0001903	Anemia	23395	LARS2	OMIM:617021
HP:0001903	Anemia	51119	SBDS	OMIM:260400
HP:0001903	Anemia	51119	SBDS	ORPHA:811
HP:0001903	Anemia	51119	SBDS	ORPHA:88
HP:0001903	Anemia	134218	DNAJC21	OMIM:260400
HP:0001903	Anemia	134218	DNAJC21	OMIM:617052
HP:0001903	Anemia	134218	DNAJC21	ORPHA:811
HP:0001903	Anemia	6729	SRP54	OMIM:260400
HP:0001903	Anemia	6729	SRP54	ORPHA:811
HP:0001903	Anemia	5568	PRKACG	OMIM:616176
HP:0001903	Anemia	4952	OCRL	ORPHA:534
HP:0001903	Anemia	1281	COL3A1	OMIM:130050
HP:0001903	Anemia	427	ASAH1	ORPHA:333
HP:0001903	Anemia	114548	NLRP3	ORPHA:575
HP:0001903	Anemia	114548	NLRP3	OMIM:607115
HP:0001903	Anemia	114548	NLRP3	ORPHA:1451
HP:0001903	Anemia	3394	IRF8	OMIM:226990
HP:0001903	Anemia	10157	AASS	OMIM:238700
HP:0001903	Anemia	2147	F2	ORPHA:325
HP:0001903	Anemia	2717	GLA	ORPHA:324
HP:0001903	Anemia	2717	GLA	OMIM:301500
HP:0001903	Anemia	5277	PIGA	ORPHA:447
HP:0001903	Anemia	4547	MTTP	ORPHA:14
HP:0001903	Anemia	56244	BTNL2	ORPHA:797
HP:0001903	Anemia	3123	HLA-DRB1	ORPHA:797
HP:0001903	Anemia	4210	MEFV	OMIM:608068
HP:0001903	Anemia	4210	MEFV	ORPHA:3243
HP:0001903	Anemia	5660	PSAP	OMIM:610539
HP:0001903	Anemia	3251	HPRT1	ORPHA:510
HP:0001903	Anemia	23322	RPGRIP1L	OMIM:619113
HP:0001903	Anemia	54809	SAMD9	OMIM:617053
HP:0001903	Anemia	54809	SAMD9	OMIM:619041
HP:0001903	Anemia	29927	SEC61A1	OMIM:617056
HP:0001903	Anemia	83706	FERMT3	OMIM:612840
HP:0001903	Anemia	55636	CHD7	ORPHA:39041
HP:0001903	Anemia	3575	IL7R	ORPHA:39041
HP:0001903	Anemia	3561	IL2RG	ORPHA:39041
HP:0001903	Anemia	2132	EXT2	ORPHA:52022
HP:0001903	Anemia	60529	ALX4	ORPHA:52022
HP:0001903	Anemia	51317	PHF21A	ORPHA:52022
HP:0001903	Anemia	84868	HAVCR2	OMIM:618398
HP:0001903	Anemia	100147744	RNU7-1	OMIM:619487
HP:0001903	Anemia	226	ALDOA	OMIM:611881
HP:0001903	Anemia	51473	DCDC2	ORPHA:84081
HP:0001903	Anemia	91147	TMEM67	ORPHA:84081
HP:0001903	Anemia	91147	TMEM67	OMIM:613550
HP:0001903	Anemia	54977	SLC25A38	OMIM:205950
HP:0001903	Anemia	498	ATP5F1A	OMIM:620358
HP:0001903	Anemia	3988	LIPA	ORPHA:75233
HP:0001903	Anemia	3988	LIPA	OMIM:278000
HP:0001903	Anemia	2177	FANCD2	OMIM:227646
HP:0001903	Anemia	2177	FANCD2	ORPHA:84
HP:0001903	Anemia	26137	ZBTB20	ORPHA:3042
HP:0001903	Anemia	55898	UNC45A	OMIM:619377
HP:0001903	Anemia	2176	FANCC	OMIM:227645
HP:0001903	Anemia	2176	FANCC	ORPHA:84
HP:0001903	Anemia	6389	SDHA	ORPHA:44890
HP:0001903	Anemia	6389	SDHA	ORPHA:255241
HP:0001903	Anemia	6390	SDHB	ORPHA:44890
HP:0001903	Anemia	6391	SDHC	ORPHA:44890
HP:0001903	Anemia	5156	PDGFRA	ORPHA:44890
HP:0001903	Anemia	3815	KIT	ORPHA:44890
HP:0001903	Anemia	5339	PLEC	OMIM:226670
HP:0001903	Anemia	7157	TP53	OMIM:618165
HP:0001903	Anemia	84464	SLX4	OMIM:613951
HP:0001903	Anemia	84464	SLX4	ORPHA:84
HP:0001903	Anemia	5557	PRIM1	OMIM:620005
HP:0001903	Anemia	6522	SLC4A2	OMIM:620366
HP:0001903	Anemia	3593	IL12B	ORPHA:3287
HP:0001903	Anemia	3106	HLA-B	ORPHA:3287
HP:0001903	Anemia	3106	HLA-B	ORPHA:36426
HP:0001903	Anemia	6945	MLX	ORPHA:3287
HP:0001903	Anemia	5313	PKLR	ORPHA:766
HP:0001903	Anemia	6850	SYK	OMIM:619381
HP:0001903	Anemia	4914	NTRK1	ORPHA:642
HP:0001903	Anemia	5371	PML	ORPHA:520
HP:0001903	Anemia	5914	RARA	ORPHA:520
HP:0001903	Anemia	359948	IRF2BP2	ORPHA:520
HP:0001903	Anemia	81608	FIP1L1	ORPHA:520
HP:0001903	Anemia	4869	NPM1	ORPHA:520
HP:0001903	Anemia	4869	NPM1	ORPHA:1775
HP:0001903	Anemia	5573	PRKAR1A	ORPHA:520
HP:0001903	Anemia	54880	BCOR	ORPHA:520
HP:0001903	Anemia	64859	NABP1	ORPHA:520
HP:0001903	Anemia	6777	STAT5B	ORPHA:520
HP:0001903	Anemia	4926	NUMA1	ORPHA:520
HP:0001903	Anemia	7704	ZBTB16	ORPHA:520
HP:0001903	Anemia	79718	TBL1XR1	ORPHA:520
HP:0001903	Anemia	4713	NDUFB7	OMIM:620135
HP:0001903	Anemia	54938	SARS2	OMIM:613845
HP:0001903	Anemia	1534	CYB561	OMIM:618182
HP:0001903	Anemia	128	ADH5	OMIM:619151
HP:0001903	Anemia	171023	ASXL1	ORPHA:98850
HP:0001903	Anemia	54790	TET2	ORPHA:98850
HP:0001903	Anemia	54790	TET2	ORPHA:824
HP:0001903	Anemia	867	CBL	ORPHA:98850
HP:0001903	Anemia	861	RUNX1	ORPHA:98850
HP:0001903	Anemia	6427	SRSF2	ORPHA:98850
HP:0001903	Anemia	4570	MT-TN	OMIM:220110
HP:0001903	Anemia	6834	SURF1	OMIM:220110
HP:0001903	Anemia	6834	SURF1	ORPHA:70474
HP:0001903	Anemia	6834	SURF1	ORPHA:255241
HP:0001903	Anemia	27178	IL37	OMIM:619398
HP:0001903	Anemia	23241	PACS2	OMIM:618067
HP:0001903	Anemia	811	CALR	ORPHA:824
HP:0001903	Anemia	4352	MPL	ORPHA:824
HP:0001903	Anemia	4352	MPL	ORPHA:3319
HP:0001903	Anemia	3717	JAK2	ORPHA:824
HP:0001903	Anemia	10667	FARS2	OMIM:614946
HP:0001903	Anemia	2038	EPB42	ORPHA:822
HP:0001903	Anemia	6521	SLC4A1	ORPHA:822
HP:0001903	Anemia	6710	SPTB	ORPHA:822
HP:0001903	Anemia	6708	SPTA1	ORPHA:822
HP:0001903	Anemia	286	ANK1	ORPHA:822
HP:0001903	Anemia	6775	STAT4	ORPHA:85408
HP:0001903	Anemia	79722	ANKRD55	ORPHA:85408
HP:0001903	Anemia	26191	PTPN22	ORPHA:85408
HP:0001903	Anemia	5771	PTPN2	ORPHA:85408
HP:0001903	Anemia	7018	TF	ORPHA:1195
HP:0001903	Anemia	2130	EWSR1	ORPHA:83469
HP:0001903	Anemia	7490	WT1	ORPHA:83469
HP:0001903	Anemia	55788	LMBRD1	OMIM:277380
HP:0001903	Anemia	30061	SLC40A1	OMIM:606069
HP:0001903	Anemia	9382	COG1	OMIM:611209
HP:0001903	Anemia	79631	EFL1	ORPHA:811
HP:0001903	Anemia	7298	TYMS	OMIM:620040
HP:0001903	Anemia	7298	TYMS	ORPHA:1775
HP:0001903	Anemia	2022	ENG	OMIM:187300
HP:0001903	Anemia	2022	ENG	ORPHA:329971
HP:0001903	Anemia	3458	IFNG	ORPHA:88
HP:0001903	Anemia	3458	IFNG	OMIM:618963
HP:0001903	Anemia	7012	TERC	ORPHA:88
HP:0001903	Anemia	7012	TERC	OMIM:127550
HP:0001903	Anemia	7012	TERC	ORPHA:1775
HP:0001903	Anemia	7015	TERT	ORPHA:88
HP:0001903	Anemia	7015	TERT	OMIM:614742
HP:0001903	Anemia	7015	TERT	ORPHA:3322
HP:0001903	Anemia	7015	TERT	OMIM:127550
HP:0001903	Anemia	7015	TERT	ORPHA:1775
HP:0001903	Anemia	56992	KIF15	ORPHA:261323
HP:0001903	Anemia	9630	GNA14	ORPHA:1063
HP:0001903	Anemia	7040	TGFB1	OMIM:131300
HP:0001903	Anemia	7040	TGFB1	ORPHA:1328
HP:0001903	Anemia	92579	G6PC3	OMIM:612541
HP:0001903	Anemia	340061	STING1	OMIM:615934
HP:0001903	Anemia	8792	TNFRSF11A	OMIM:612301
HP:0001903	Anemia	672	BRCA1	ORPHA:84
HP:0001903	Anemia	672	BRCA1	OMIM:617883
HP:0001903	Anemia	7516	XRCC2	ORPHA:84
HP:0001903	Anemia	29089	UBE2T	ORPHA:84
HP:0001903	Anemia	29089	UBE2T	OMIM:616435
HP:0001903	Anemia	675	BRCA2	ORPHA:84
HP:0001903	Anemia	2187	FANCB	ORPHA:84
HP:0001903	Anemia	2178	FANCE	ORPHA:84
HP:0001903	Anemia	2178	FANCE	OMIM:600901
HP:0001903	Anemia	5889	RAD51C	ORPHA:84
HP:0001903	Anemia	55159	RFWD3	ORPHA:84
HP:0001903	Anemia	83990	BRIP1	ORPHA:84
HP:0001903	Anemia	57697	FANCM	ORPHA:84
HP:0001903	Anemia	79728	PALB2	ORPHA:84
HP:0001903	Anemia	55215	FANCI	ORPHA:84
HP:0001903	Anemia	5095	PCCA	OMIM:606054
HP:0001903	Anemia	5096	PCCB	OMIM:606054
HP:0001903	Anemia	6899	TBX1	OMIM:188400
HP:0001903	Anemia	3070	HELLS	ORPHA:2268
HP:0001903	Anemia	1789	DNMT3B	ORPHA:2268
HP:0001903	Anemia	83879	CDCA7	ORPHA:2268
HP:0001903	Anemia	9841	ZBTB24	ORPHA:2268
HP:0001903	Anemia	4598	MVK	OMIM:610377
HP:0001903	Anemia	4582	MUC1	OMIM:174000
HP:0001903	Anemia	5728	PTEN	ORPHA:79076
HP:0001903	Anemia	1991	ELANE	OMIM:202700
HP:0001903	Anemia	1798	DPAGT1	ORPHA:86309
HP:0001903	Anemia	330	BIRC3	ORPHA:52417
HP:0001903	Anemia	10892	MALT1	ORPHA:52417
HP:0001903	Anemia	27086	FOXP1	ORPHA:52417
HP:0001903	Anemia	3492	IGH	ORPHA:52417
HP:0001903	Anemia	8915	BCL10	ORPHA:52417
HP:0001903	Anemia	10841	FTCD	ORPHA:51208
HP:0001903	Anemia	7456	WIPF1	ORPHA:906
HP:0001903	Anemia	90624	LYRM7	OMIM:615838
HP:0001903	Anemia	10056	FARSB	OMIM:613658
HP:0001903	Anemia	493856	CISD2	ORPHA:3463
HP:0001903	Anemia	7466	WFS1	ORPHA:3463
HP:0001903	Anemia	375748	ERCC6L2	OMIM:615715
HP:0001903	Anemia	55719	SLF2	OMIM:620184
HP:0001903	Anemia	23137	SMC5	OMIM:620185
HP:0001903	Anemia	55027	HEATR3	OMIM:620072
HP:0001903	Anemia	7276	TTR	ORPHA:85451
HP:0001903	Anemia	5627	PROS1	OMIM:614514
HP:0001903	Anemia	64135	IFIH1	OMIM:615846
HP:0001903	Anemia	10165	SLC25A13	ORPHA:247598
HP:0001903	Anemia	866	SERPINA6	OMIM:611489
HP:0001903	Anemia	3662	IRF4	ORPHA:3452
HP:0001903	Anemia	760	CA2	OMIM:259730
HP:0001903	Anemia	760	CA2	ORPHA:2785
HP:0001903	Anemia	55343	SLC35C1	ORPHA:99843
HP:0001903	Anemia	9493	KIF23	ORPHA:98870
HP:0001903	Anemia	6905	TBCE	OMIM:244460
HP:0001903	Anemia	57817	HAMP	OMIM:613313
HP:0001903	Anemia	63901	FAM111A	OMIM:127000
HP:0001903	Anemia	63901	FAM111A	ORPHA:93325
HP:0001903	Anemia	51750	RTEL1	ORPHA:3322
HP:0001903	Anemia	51750	RTEL1	ORPHA:1775
HP:0001903	Anemia	65057	ACD	ORPHA:3322
HP:0001903	Anemia	5073	PARN	ORPHA:3322
HP:0001903	Anemia	5073	PARN	ORPHA:1775
HP:0001903	Anemia	26277	TINF2	ORPHA:3322
HP:0001903	Anemia	26277	TINF2	OMIM:127550
HP:0001903	Anemia	26277	TINF2	ORPHA:1775
HP:0001903	Anemia	80324	PUS1	ORPHA:2598
HP:0001903	Anemia	51067	YARS2	ORPHA:2598
HP:0001903	Anemia	23479	ISCU	OMIM:255125
HP:0001903	Anemia	84876	ORAI1	ORPHA:3204
HP:0001903	Anemia	64241	ABCG8	OMIM:210250
HP:0001903	Anemia	7066	THPO	ORPHA:3319
HP:0001903	Anemia	84529	CDIN1	OMIM:615631
HP:0001903	Anemia	3932	LCK	OMIM:615758
HP:0001903	Anemia	2495	FTH1	OMIM:615517
HP:0001903	Anemia	27034	ACAD8	OMIM:611283
HP:0001903	Anemia	3459	IFNGR1	OMIM:209950
HP:0001903	Anemia	23095	KIF1B	OMIM:256700
HP:0001903	Anemia	2122	MECOM	OMIM:616738
HP:0001903	Anemia	79840	NHEJ1	ORPHA:169079
HP:0001903	Anemia	10320	IKZF1	ORPHA:36426
HP:0001903	Anemia	27235	COQ2	OMIM:607426
HP:0001903	Anemia	7037	TFRC	OMIM:616740
HP:0001903	Anemia	51218	GLRX5	OMIM:616860
HP:0001903	Anemia	10616	RBCK1	OMIM:615895
HP:0001903	Anemia	5257	PHKB	ORPHA:79240
HP:0001903	Anemia	3431	SP110	ORPHA:79124
HP:0001903	Anemia	3248	HPGD	ORPHA:2796
HP:0001903	Anemia	6578	SLCO2A1	ORPHA:2796
HP:0001903	Anemia	197131	UBR1	ORPHA:2315
HP:0001903	Anemia	55163	PNPO	OMIM:610090
HP:0001903	Anemia	7067	THRA	OMIM:614450
HP:0001903	Anemia	4891	SLC11A2	OMIM:206100
HP:0001903	Anemia	9419	CRIPT	OMIM:615789
HP:0001903	Anemia	5498	PPOX	ORPHA:79473
HP:0001903	Anemia	326625	MMAB	OMIM:251110
HP:0001903	Anemia	3674	ITGA2B	OMIM:187800
HP:0001903	Anemia	2328	FMO3	OMIM:602079
HP:0001903	Anemia	9401	RECQL4	ORPHA:221016
HP:0001903	Anemia	51520	LARS1	OMIM:615438
HP:0001903	Anemia	2065	ERBB3	OMIM:133180
HP:0001903	Anemia	7036	TFR2	OMIM:604250
HP:0001903	Anemia	189	AGXT	ORPHA:93598
HP:0001903	Anemia	25915	NDUFAF3	ORPHA:70474
HP:0001903	Anemia	4714	NDUFB8	ORPHA:70474
HP:0001903	Anemia	4720	NDUFS2	ORPHA:70474
HP:0001903	Anemia	4720	NDUFS2	ORPHA:255241
HP:0001903	Anemia	9997	SCO2	ORPHA:70474
HP:0001903	Anemia	81	ACTN4	OMIM:603278
HP:0001903	Anemia	55278	QRSL1	OMIM:618835
HP:0001903	Anemia	5188	GATB	OMIM:618838
HP:0001903	Anemia	283459	GATC	OMIM:618839
HP:0001903	Anemia	80704	SLC19A3	ORPHA:255241
HP:0001903	Anemia	91942	NDUFAF2	ORPHA:255241
HP:0001903	Anemia	4723	NDUFV1	ORPHA:255241
HP:0001903	Anemia	55572	FOXRED1	ORPHA:255241
HP:0001903	Anemia	4729	NDUFV2	ORPHA:255241
HP:0001903	Anemia	55967	NDUFA12	ORPHA:255241
HP:0001903	Anemia	51204	TACO1	ORPHA:255241
HP:0001903	Anemia	4724	NDUFS4	ORPHA:255241
HP:0001903	Anemia	4728	NDUFS8	ORPHA:255241
HP:0001903	Anemia	137682	NDUFAF6	ORPHA:255241
HP:0001903	Anemia	4722	NDUFS3	ORPHA:255241
HP:0001903	Anemia	79133	NDUFAF5	ORPHA:255241
HP:0001903	Anemia	5160	PDHA1	ORPHA:255241
HP:0001903	Anemia	100131801	PET100	ORPHA:255241
HP:0001903	Anemia	1355	COX15	ORPHA:255241
HP:0001903	Anemia	1892	ECHS1	ORPHA:255241
HP:0001903	Anemia	123263	MTFMT	ORPHA:255241
HP:0001903	Anemia	51079	NDUFA13	ORPHA:255241
HP:0001903	Anemia	374291	NDUFS7	ORPHA:255241
HP:0001903	Anemia	4705	NDUFA10	ORPHA:255241
HP:0001903	Anemia	51601	LIPT1	ORPHA:255241
HP:0001903	Anemia	4719	NDUFS1	ORPHA:255241
HP:0001903	Anemia	4695	NDUFA2	ORPHA:255241
HP:0001903	Anemia	4697	NDUFA4	ORPHA:255241
HP:0001903	Anemia	4704	NDUFA9	ORPHA:255241
HP:0001903	Anemia	7518	XRCC4	OMIM:616541
HP:0001903	Anemia	4194	MDM4	OMIM:618849
HP:0001903	Anemia	5116	PCNT	ORPHA:2637
HP:0001903	Anemia	6137	RPL13	OMIM:618728
HP:0001903	Anemia	9939	RBM8A	OMIM:274000
HP:0001903	Anemia	6609	SMPD1	OMIM:607616
HP:0001903	Anemia	80169	CTC1	OMIM:612199
HP:0001903	Anemia	80169	CTC1	ORPHA:1775
HP:0001903	Anemia	55651	NHP2	ORPHA:1775
HP:0001903	Anemia	79650	USB1	ORPHA:1775
HP:0001903	Anemia	55135	WRAP53	ORPHA:1775
HP:0001903	Anemia	55505	NOP10	ORPHA:1775
HP:0001903	Anemia	1371	CPOX	ORPHA:79273
HP:0001903	Anemia	6929	TCF3	OMIM:619824
HP:0001903	Anemia	3852	KRT5	ORPHA:79396
HP:0001903	Anemia	3861	KRT14	ORPHA:79396
HP:0001903	Anemia	64682	ANAPC1	ORPHA:221008
HP:0001903	Anemia	219285	SAMD9L	OMIM:159550
HP:0001903	Anemia	219285	SAMD9L	ORPHA:2585
HP:0001903	Anemia	3313	HSPA9	OMIM:182170
HP:0001903	Anemia	63916	ELMO2	OMIM:606893
HP:0001903	Anemia	9051	PSTPIP1	OMIM:604416
HP:0001903	Anemia	2658	GDF2	ORPHA:774
HP:0001903	Anemia	10265	IRX5	OMIM:611174
HP:0001903	Anemia	2193	FARSA	OMIM:619013
HP:0001903	Anemia	3572	IL6ST	OMIM:619750
HP:0001903	Anemia	26007	TKFC	OMIM:618805
HP:0001903	Anemia	847	CAT	ORPHA:926
HP:0001903	Anemia	55109	AGGF1	ORPHA:90308
HP:0001903	Anemia	79644	SRD5A3	ORPHA:324737
HP:0001903	Anemia	79644	SRD5A3	OMIM:612379
HP:0001903	Anemia	112812	FDX2	OMIM:251900
HP:0001903	Anemia	1468	SLC25A10	OMIM:618972
HP:0001903	Anemia	8737	RIPK1	OMIM:618852
HP:0001903	Anemia	8803	SUCLA2	OMIM:612073
HP:0001903	Anemia	3658	IREB2	OMIM:618451
HP:0001903	Anemia	7010	TEK	ORPHA:1059
HP:0001903	Anemia	55315	SLC29A3	ORPHA:168569
HP:0001903	Anemia	89874	SLC25A21	OMIM:618811
HP:0001903	Anemia	5696	PSMB8	OMIM:256040
HP:0001903	Anemia	3075	CFH	ORPHA:244242
HP:0001903	Anemia	3075	CFH	OMIM:235400
HP:0001903	Anemia	101101692	HELLPAR	ORPHA:244242
HP:0001903	Anemia	11093	ADAMTS13	OMIM:274150
HP:0001903	Anemia	6696	SPP1	ORPHA:93552
HP:0001903	Anemia	3654	IRAK1	ORPHA:93552
HP:0001903	Anemia	3078	CFHR1	OMIM:235400
HP:0001903	Anemia	10878	CFHR3	OMIM:235400
HP:0001903	Anemia	10059	DNM1L	ORPHA:98673
HP:0001903	Anemia	4976	OPA1	ORPHA:98673
HP:0001903	Anemia	119559	SFXN4	OMIM:615578
HP:0001903	Anemia	6948	TCN2	OMIM:275350
HP:0001903	Anemia	5700	PSMC1	OMIM:620071
HP:0001903	Anemia	7317	UBA1	OMIM:301054
HP:0001903	Anemia	1352	COX10	OMIM:619046
HP:0001903	Anemia	5880	RAC2	OMIM:608203
HP:0001903	Anemia	8573	CASK	OMIM:300908
HP:0001903	Anemia	2539	G6PD	OMIM:300908
HP:0001903	Anemia	2936	GSR	OMIM:618660
HP:0001903	Anemia	9663	LPIN2	ORPHA:77297
HP:0001903	Anemia	29775	CARD10	OMIM:619632
HP:0001903	Anemia	51095	TRNT1	OMIM:616084
HP:0001903	Anemia	131118	DNAJC19	ORPHA:66634
HP:0001903	Anemia	3040	HBA2	OMIM:604131
HP:0001903	Anemia	3039	HBA1	OMIM:604131
HP:0001903	Anemia	53335	BCL11A	ORPHA:251380
HP:0001903	Anemia	10661	KLF1	ORPHA:251380
HP:0001903	Anemia	3047	HBG1	ORPHA:251380
HP:0001903	Anemia	3048	HBG2	ORPHA:251380
HP:0001903	Anemia	28962	OSTM1	OMIM:259720
HP:0001903	Anemia	22	ABCB7	OMIM:301310
HP:0001903	Anemia	3735	KARS1	OMIM:619147
HP:0001903	Anemia	205327	C2orf69	OMIM:619423
HP:0001903	Anemia	150274	HSCB	OMIM:619523
HP:0001903	Anemia	164656	TMPRSS6	OMIM:206200
HP:0001903	Anemia	1356	CP	ORPHA:48818
HP:0001903	Anemia	23729	SHPK	ORPHA:440713
HP:0001903	Anemia	6901	TAFAZZIN	OMIM:302060
HP:0001903	Anemia	27040	LAT	OMIM:617514
HP:0001903	Anemia	7293	TNFRSF4	OMIM:615593
HP:0001903	Anemia	8651	SOCS1	OMIM:619375
HP:0001903	Anemia	6573	SLC19A1	OMIM:601775
HP:0001903	Anemia	10560	SLC19A2	OMIM:249270
HP:0001903	Anemia	6208	RPS14	OMIM:153550
HP:0001903	Anemia	2876	GPX1	OMIM:614164
HP:0001903	Anemia	7167	TPI1	OMIM:615512
HP:0001903	Anemia	374354	NHLRC2	OMIM:618278
HP:0001903	Anemia	51428	DDX41	OMIM:616871
HP:0001903	Anemia	26585	GREM1	ORPHA:157794
HP:0001903	Anemia	6513	SLC2A1	ORPHA:168577
HP:0001903	Anemia	2821	GPI	OMIM:613470
HP:0001903	Anemia	6135	RPL11	ORPHA:124
HP:0001903	Anemia	6138	RPL15	ORPHA:124
HP:0001903	Anemia	6229	RPS24	ORPHA:124
HP:0001903	Anemia	6125	RPL5	ORPHA:124
HP:0001903	Anemia	6204	RPS10	ORPHA:124
HP:0001903	Anemia	6224	RPS20	ORPHA:124
HP:0001903	Anemia	6165	RPL35A	ORPHA:124
HP:0001903	Anemia	2623	GATA1	ORPHA:124
HP:0001903	Anemia	6223	RPS19	ORPHA:124
HP:0001903	Anemia	6232	RPS27	ORPHA:124
HP:0001903	Anemia	6231	RPS26	ORPHA:124
HP:0001903	Anemia	11224	RPL35	ORPHA:124
HP:0001903	Anemia	6160	RPL31	ORPHA:124
HP:0001903	Anemia	6218	RPS17	ORPHA:124
HP:0001903	Anemia	6201	RPS7	ORPHA:124
HP:0001903	Anemia	6155	RPL27	ORPHA:124
HP:0001903	Anemia	6154	RPL26	ORPHA:124
HP:0001903	Anemia	6210	RPS15A	ORPHA:124
HP:0001903	Anemia	90121	TSR2	ORPHA:124
HP:0001903	Anemia	6141	RPL18	ORPHA:124
HP:0001903	Anemia	6235	RPS29	ORPHA:124
HP:0001903	Anemia	6234	RPS28	ORPHA:124
HP:0001903	Anemia	51816	ADA2	ORPHA:124
HP:0001903	Anemia	29127	RACGAP1	OMIM:619789
HP:0001903	Anemia	146059	CDAN1	OMIM:224120
HP:0001903	Anemia	9780	PIEZO1	OMIM:194380
HP:0001903	Anemia	10483	SEC23B	OMIM:224100
HP:0001903	Anemia	84701	COX4I2	OMIM:612714
HP:0001903	Anemia	3783	KCNN4	ORPHA:3202
HP:0001903	Anemia	23451	SF3B1	ORPHA:75564
HP:0001903	Anemia	6005	RHAG	ORPHA:71275
HP:0001903	Anemia	6006	RHCE	ORPHA:71275
HP:0001903	Anemia	6007	RHD	ORPHA:71275
HP:0001903	Anemia	2056	EPO	OMIM:617911
HP:0005511	Heinz body anemia	3040	HBA2	OMIM:140700
HP:0005511	Heinz body anemia	3043	HBB	OMIM:140700
HP:0005511	Heinz body anemia	3039	HBA1	OMIM:140700
HP:0005513	Increased megakaryocyte count	10019	SH2B3	ORPHA:3318
HP:0005513	Increased megakaryocyte count	811	CALR	ORPHA:3318
HP:0005513	Increased megakaryocyte count	7157	TP53	ORPHA:3318
HP:0005513	Increased megakaryocyte count	4352	MPL	ORPHA:3318
HP:0005513	Increased megakaryocyte count	4352	MPL	OMIM:601977
HP:0005513	Increased megakaryocyte count	3717	JAK2	ORPHA:3318
HP:0005513	Increased megakaryocyte count	3717	JAK2	OMIM:263300
HP:0005513	Increased megakaryocyte count	54790	TET2	ORPHA:3318
HP:0005513	Increased megakaryocyte count	54790	TET2	ORPHA:75564
HP:0005513	Increased megakaryocyte count	23451	SF3B1	ORPHA:75564
HP:0004841	Reduced factor XII activity	2542	SLC37A4	OMIM:619525
HP:0004841	Reduced factor XII activity	2161	F12	ORPHA:330
HP:0004841	Reduced factor XII activity	2161	F12	OMIM:234000
HP:0004841	Reduced factor XII activity	4247	MGAT2	OMIM:212066
HP:0004841	Reduced factor XII activity	5604	MAP2K1	OMIM:163950
HP:0004841	Reduced factor XII activity	5781	PTPN11	OMIM:163950
HP:0004841	Reduced factor XII activity	673	BRAF	OMIM:163950
HP:0001875	Neutropenia	2672	GFI1	OMIM:607847
HP:0001875	Neutropenia	2672	GFI1	OMIM:613107
HP:0001875	Neutropenia	2672	GFI1	ORPHA:486
HP:0001875	Neutropenia	4594	MMUT	ORPHA:289916
HP:0001875	Neutropenia	4594	MMUT	OMIM:251000
HP:0001875	Neutropenia	4594	MMUT	ORPHA:79312
HP:0001875	Neutropenia	171023	ASXL1	ORPHA:98850
HP:0001875	Neutropenia	54790	TET2	ORPHA:98850
HP:0001875	Neutropenia	54790	TET2	ORPHA:75564
HP:0001875	Neutropenia	54790	TET2	ORPHA:98826
HP:0001875	Neutropenia	867	CBL	ORPHA:98850
HP:0001875	Neutropenia	861	RUNX1	ORPHA:98850
HP:0001875	Neutropenia	6427	SRSF2	ORPHA:98850
HP:0001875	Neutropenia	695	BTK	OMIM:300755
HP:0001875	Neutropenia	695	BTK	ORPHA:47
HP:0001875	Neutropenia	26235	FBXL4	OMIM:615471
HP:0001875	Neutropenia	54892	NCAPG2	OMIM:618460
HP:0001875	Neutropenia	1441	CSF3R	OMIM:617014
HP:0001875	Neutropenia	23241	PACS2	OMIM:618067
HP:0001875	Neutropenia	5880	RAC2	OMIM:618986
HP:0001875	Neutropenia	6948	TCN2	OMIM:275350
HP:0001875	Neutropenia	6948	TCN2	ORPHA:859
HP:0001875	Neutropenia	6218	RPS17	OMIM:612527
HP:0001875	Neutropenia	6218	RPS17	ORPHA:124
HP:0001875	Neutropenia	959	CD40LG	OMIM:308230
HP:0001875	Neutropenia	23451	SF3B1	ORPHA:75564
HP:0001875	Neutropenia	79650	USB1	OMIM:604173
HP:0001875	Neutropenia	5551	PRF1	ORPHA:540
HP:0001875	Neutropenia	5551	PRF1	ORPHA:88
HP:0001875	Neutropenia	8676	STX11	ORPHA:540
HP:0001875	Neutropenia	8676	STX11	OMIM:603552
HP:0001875	Neutropenia	201294	UNC13D	ORPHA:540
HP:0001875	Neutropenia	6813	STXBP2	ORPHA:540
HP:0001875	Neutropenia	10559	SLC35A1	ORPHA:238459
HP:0001875	Neutropenia	10559	SLC35A1	OMIM:603585
HP:0001875	Neutropenia	54809	SAMD9	OMIM:619041
HP:0001875	Neutropenia	114803	MYSM1	ORPHA:508542
HP:0001875	Neutropenia	9948	WDR1	OMIM:150550
HP:0001875	Neutropenia	2175	FANCA	OMIM:227650
HP:0001875	Neutropenia	2120	ETV6	OMIM:616216
HP:0001875	Neutropenia	55215	FANCI	OMIM:609053
HP:0001875	Neutropenia	4552	MTRR	ORPHA:2169
HP:0001875	Neutropenia	65082	VPS33A	OMIM:617303
HP:0001875	Neutropenia	55788	LMBRD1	OMIM:277380
HP:0001875	Neutropenia	55788	LMBRD1	ORPHA:79284
HP:0001875	Neutropenia	973	CD79A	OMIM:613501
HP:0001875	Neutropenia	973	CD79A	ORPHA:33110
HP:0001875	Neutropenia	29760	BLNK	OMIM:613502
HP:0001875	Neutropenia	29760	BLNK	ORPHA:33110
HP:0001875	Neutropenia	1130	LYST	OMIM:214500
HP:0001875	Neutropenia	1130	LYST	ORPHA:167
HP:0001875	Neutropenia	9837	GINS1	OMIM:617827
HP:0001875	Neutropenia	2122	MECOM	OMIM:616738
HP:0001875	Neutropenia	7015	TERT	OMIM:613989
HP:0001875	Neutropenia	7015	TERT	ORPHA:88
HP:0001875	Neutropenia	331	XIAP	OMIM:308240
HP:0001875	Neutropenia	4068	SH2D1A	OMIM:308240
HP:0001875	Neutropenia	8029	CUBN	ORPHA:35858
HP:0001875	Neutropenia	81693	AMN	ORPHA:35858
HP:0001875	Neutropenia	7454	WAS	OMIM:300299
HP:0001875	Neutropenia	7454	WAS	ORPHA:86788
HP:0001875	Neutropenia	7454	WAS	ORPHA:906
HP:0001875	Neutropenia	219285	SAMD9L	OMIM:159550
HP:0001875	Neutropenia	54	ACP5	OMIM:607944
HP:0001875	Neutropenia	3458	IFNG	ORPHA:88
HP:0001875	Neutropenia	7012	TERC	ORPHA:88
HP:0001875	Neutropenia	6023	RMRP	ORPHA:175
HP:0001875	Neutropenia	6023	RMRP	OMIM:250250
HP:0001875	Neutropenia	2530	FUT8	OMIM:618005
HP:0001875	Neutropenia	7037	TFRC	OMIM:616740
HP:0001875	Neutropenia	816	CAMK2B	OMIM:617799
HP:0001875	Neutropenia	7852	CXCR4	OMIM:193670
HP:0001875	Neutropenia	7852	CXCR4	ORPHA:51636
HP:0001875	Neutropenia	92579	G6PC3	OMIM:612541
HP:0001875	Neutropenia	28956	LAMTOR2	ORPHA:90023
HP:0001875	Neutropenia	28956	LAMTOR2	OMIM:610798
HP:0001875	Neutropenia	8546	AP3B1	OMIM:608233
HP:0001875	Neutropenia	157680	VPS13B	OMIM:216550
HP:0001875	Neutropenia	157680	VPS13B	ORPHA:193
HP:0001875	Neutropenia	5095	PCCA	OMIM:606054
HP:0001875	Neutropenia	5096	PCCB	OMIM:606054
HP:0001875	Neutropenia	112812	FDX2	OMIM:251900
HP:0001875	Neutropenia	958	CD40	OMIM:606843
HP:0001875	Neutropenia	2624	GATA2	OMIM:614172
HP:0001875	Neutropenia	2178	FANCE	OMIM:600901
HP:0001875	Neutropenia	4478	MSN	OMIM:300988
HP:0001875	Neutropenia	546	ATRX	ORPHA:231401
HP:0001875	Neutropenia	28755	TRAC	OMIM:615387
HP:0001875	Neutropenia	4700	NDUFA6	OMIM:618253
HP:0001875	Neutropenia	175	AGA	OMIM:208400
HP:0001875	Neutropenia	113235	SLC46A1	OMIM:229050
HP:0001875	Neutropenia	5826	ABCD4	OMIM:614857
HP:0001875	Neutropenia	326625	MMAB	OMIM:251110
HP:0001875	Neutropenia	5873	RAB27A	ORPHA:79477
HP:0001875	Neutropenia	2328	FMO3	OMIM:602079
HP:0001875	Neutropenia	8943	AP3D1	OMIM:617050
HP:0001875	Neutropenia	3572	IL6ST	OMIM:619752
HP:0001875	Neutropenia	2623	GATA1	OMIM:300835
HP:0001875	Neutropenia	2623	GATA1	ORPHA:124
HP:0001875	Neutropenia	29927	SEC61A1	OMIM:617056
HP:0001875	Neutropenia	6135	RPL11	OMIM:612562
HP:0001875	Neutropenia	6135	RPL11	ORPHA:124
HP:0001875	Neutropenia	9401	RECQL4	ORPHA:221016
HP:0001875	Neutropenia	6201	RPS7	OMIM:612563
HP:0001875	Neutropenia	6201	RPS7	ORPHA:124
HP:0001875	Neutropenia	6154	RPL26	OMIM:614900
HP:0001875	Neutropenia	6154	RPL26	ORPHA:124
HP:0001875	Neutropenia	7456	WIPF1	ORPHA:906
HP:0001875	Neutropenia	8517	IKBKG	OMIM:301081
HP:0001875	Neutropenia	6789	STK4	OMIM:614868
HP:0001875	Neutropenia	4796	TONSL	ORPHA:93357
HP:0001875	Neutropenia	4796	TONSL	OMIM:271510
HP:0001875	Neutropenia	7036	TFR2	OMIM:604250
HP:0001875	Neutropenia	166785	MMAA	OMIM:251100
HP:0001875	Neutropenia	3507	IGHM	OMIM:601495
HP:0001875	Neutropenia	3507	IGHM	ORPHA:33110
HP:0001875	Neutropenia	25839	COG4	OMIM:618150
HP:0001875	Neutropenia	3575	IL7R	ORPHA:169154
HP:0001875	Neutropenia	6141	RPL18	OMIM:618310
HP:0001875	Neutropenia	6141	RPL18	ORPHA:124
HP:0001875	Neutropenia	3845	KRAS	OMIM:614470
HP:0001875	Neutropenia	4893	NRAS	OMIM:614470
HP:0001875	Neutropenia	150274	HSCB	OMIM:619523
HP:0001875	Neutropenia	11311	VPS45	OMIM:615285
HP:0001875	Neutropenia	50485	SMARCAL1	ORPHA:1830
HP:0001875	Neutropenia	50485	SMARCAL1	OMIM:242900
HP:0001875	Neutropenia	57724	EPG5	OMIM:242840
HP:0001875	Neutropenia	2937	GSS	OMIM:266130
HP:0001875	Neutropenia	2177	FANCD2	OMIM:227646
HP:0001875	Neutropenia	2176	FANCC	OMIM:227645
HP:0001875	Neutropenia	2189	FANCG	OMIM:614082
HP:0001875	Neutropenia	6603	SMARCD2	OMIM:617475
HP:0001875	Neutropenia	84522	JAGN1	OMIM:616022
HP:0001875	Neutropenia	5295	PIK3R1	OMIM:615214
HP:0001875	Neutropenia	5295	PIK3R1	ORPHA:33110
HP:0001875	Neutropenia	4194	MDM4	OMIM:618849
HP:0001875	Neutropenia	25974	MMACHC	ORPHA:79282
HP:0001875	Neutropenia	25974	MMACHC	OMIM:277400
HP:0001875	Neutropenia	3930	LBR	OMIM:169400
HP:0001875	Neutropenia	51567	TDP2	OMIM:616949
HP:0001875	Neutropenia	404672	GTF2H5	ORPHA:33364
HP:0001875	Neutropenia	404672	GTF2H5	OMIM:616395
HP:0001875	Neutropenia	833	CARS1	ORPHA:33364
HP:0001875	Neutropenia	2068	ERCC2	ORPHA:33364
HP:0001875	Neutropenia	7737	RNF113A	ORPHA:33364
HP:0001875	Neutropenia	136647	MPLKIP	ORPHA:33364
HP:0001875	Neutropenia	6897	TARS1	ORPHA:33364
HP:0001875	Neutropenia	2071	ERCC3	ORPHA:33364
HP:0001875	Neutropenia	2961	GTF2E2	ORPHA:33364
HP:0001875	Neutropenia	9451	EIF2AK3	ORPHA:1667
HP:0001875	Neutropenia	6223	RPS19	OMIM:105650
HP:0001875	Neutropenia	6223	RPS19	ORPHA:124
HP:0001875	Neutropenia	51311	TLR8	OMIM:301078
HP:0001875	Neutropenia	10312	TCIRG1	ORPHA:486
HP:0001875	Neutropenia	6138	RPL15	ORPHA:124
HP:0001875	Neutropenia	6229	RPS24	ORPHA:124
HP:0001875	Neutropenia	6125	RPL5	ORPHA:124
HP:0001875	Neutropenia	6204	RPS10	ORPHA:124
HP:0001875	Neutropenia	6224	RPS20	ORPHA:124
HP:0001875	Neutropenia	6165	RPL35A	ORPHA:124
HP:0001875	Neutropenia	6232	RPS27	ORPHA:124
HP:0001875	Neutropenia	6231	RPS26	ORPHA:124
HP:0001875	Neutropenia	11224	RPL35	ORPHA:124
HP:0001875	Neutropenia	6160	RPL31	ORPHA:124
HP:0001875	Neutropenia	6155	RPL27	ORPHA:124
HP:0001875	Neutropenia	6210	RPS15A	ORPHA:124
HP:0001875	Neutropenia	90121	TSR2	ORPHA:124
HP:0001875	Neutropenia	6235	RPS29	ORPHA:124
HP:0001875	Neutropenia	6234	RPS28	ORPHA:124
HP:0001875	Neutropenia	51816	ADA2	ORPHA:124
HP:0001875	Neutropenia	5371	PML	ORPHA:520
HP:0001875	Neutropenia	5914	RARA	ORPHA:520
HP:0001875	Neutropenia	359948	IRF2BP2	ORPHA:520
HP:0001875	Neutropenia	81608	FIP1L1	ORPHA:520
HP:0001875	Neutropenia	4869	NPM1	ORPHA:520
HP:0001875	Neutropenia	5573	PRKAR1A	ORPHA:520
HP:0001875	Neutropenia	54880	BCOR	ORPHA:520
HP:0001875	Neutropenia	64859	NABP1	ORPHA:520
HP:0001875	Neutropenia	6777	STAT5B	ORPHA:520
HP:0001875	Neutropenia	4926	NUMA1	ORPHA:520
HP:0001875	Neutropenia	7704	ZBTB16	ORPHA:520
HP:0001875	Neutropenia	79718	TBL1XR1	ORPHA:520
HP:0001875	Neutropenia	10459	MAD2L2	OMIM:617243
HP:0001875	Neutropenia	96459	FNIP1	OMIM:619705
HP:0001875	Neutropenia	27429	HTRA2	OMIM:617248
HP:0001875	Neutropenia	7319	UBE2A	ORPHA:163956
HP:0001875	Neutropenia	55294	FBXW7	OMIM:620012
HP:0001875	Neutropenia	5052	PRDX1	OMIM:277400
HP:0001875	Neutropenia	10456	HAX1	OMIM:610738
HP:0001875	Neutropenia	6929	TCF3	ORPHA:33110
HP:0001875	Neutropenia	974	CD79B	ORPHA:33110
HP:0001875	Neutropenia	3543	IGLL1	ORPHA:33110
HP:0001875	Neutropenia	56262	LRRC8A	ORPHA:33110
HP:0001875	Neutropenia	64682	ANAPC1	ORPHA:221008
HP:0001875	Neutropenia	5896	RAG1	ORPHA:231154
HP:0001875	Neutropenia	2215	FCGR3B	ORPHA:464370
HP:0001875	Neutropenia	355	FAS	ORPHA:3261
HP:0001875	Neutropenia	355	FAS	OMIM:601859
HP:0001875	Neutropenia	356	FASLG	ORPHA:3261
HP:0001875	Neutropenia	356	FASLG	OMIM:601859
HP:0001875	Neutropenia	5580	PRKCD	ORPHA:3261
HP:0001875	Neutropenia	843	CASP10	ORPHA:3261
HP:0001875	Neutropenia	843	CASP10	OMIM:603909
HP:0001875	Neutropenia	10125	RASGRP1	ORPHA:3261
HP:0001875	Neutropenia	5994	RFXAP	ORPHA:572
HP:0001875	Neutropenia	4261	CIITA	ORPHA:572
HP:0001875	Neutropenia	5993	RFX5	ORPHA:572
HP:0001875	Neutropenia	8625	RFXANK	ORPHA:572
HP:0001875	Neutropenia	6772	STAT1	ORPHA:391487
HP:0001875	Neutropenia	10043	TOM1	ORPHA:391487
HP:0001875	Neutropenia	7174	TPP2	OMIM:619220
HP:0001875	Neutropenia	6774	STAT3	OMIM:615952
HP:0001875	Neutropenia	50943	FOXP3	ORPHA:37042
HP:0001875	Neutropenia	4860	PNP	OMIM:613179
HP:0001875	Neutropenia	5238	PGM3	ORPHA:443811
HP:0001875	Neutropenia	5294	PIK3CG	OMIM:619802
HP:0001875	Neutropenia	54440	SASH3	OMIM:301082
HP:0001875	Neutropenia	83737	ITCH	ORPHA:228426
HP:0001875	Neutropenia	29851	ICOS	OMIM:607594
HP:0001875	Neutropenia	6901	TAFAZZIN	OMIM:302060
HP:0001875	Neutropenia	1991	ELANE	OMIM:162800
HP:0001875	Neutropenia	1991	ELANE	ORPHA:2686
HP:0001875	Neutropenia	2542	SLC37A4	OMIM:232240
HP:0001875	Neutropenia	3579	CXCR2	OMIM:619407
HP:0001875	Neutropenia	987	LRBA	OMIM:614700
HP:0001875	Neutropenia	51645	PPIL1	OMIM:619301
HP:0001875	Neutropenia	51362	CDC40	OMIM:619302
HP:0001875	Neutropenia	9158	FIBP	OMIM:617107
HP:0001875	Neutropenia	9158	FIBP	ORPHA:500095
HP:0001875	Neutropenia	6688	SPI1	OMIM:619707
HP:0001875	Neutropenia	51135	IRAK4	OMIM:607676
HP:0001875	Neutropenia	134218	DNAJC21	ORPHA:811
HP:0001875	Neutropenia	79631	EFL1	ORPHA:811
HP:0001875	Neutropenia	51119	SBDS	ORPHA:811
HP:0001875	Neutropenia	6729	SRP54	ORPHA:811
HP:0001875	Neutropenia	81570	CLPB	ORPHA:445038
HP:0005518	Increased mean corpuscular volume	3043	HBB	ORPHA:232
HP:0005518	Increased mean corpuscular volume	9493	KIF23	ORPHA:98870
HP:0005518	Increased mean corpuscular volume	29127	RACGAP1	ORPHA:98870
HP:0005518	Increased mean corpuscular volume	6005	RHAG	OMIM:185000
HP:0005518	Increased mean corpuscular volume	3978	LIG1	OMIM:619774
HP:0005518	Increased mean corpuscular volume	134218	DNAJC21	OMIM:617052
HP:0005518	Increased mean corpuscular volume	134218	DNAJC21	ORPHA:811
HP:0005518	Increased mean corpuscular volume	2694	CBLIF	OMIM:261000
HP:0005518	Increased mean corpuscular volume	3783	KCNN4	OMIM:616689
HP:0005518	Increased mean corpuscular volume	3783	KCNN4	ORPHA:3202
HP:0005518	Increased mean corpuscular volume	6135	RPL11	OMIM:612562
HP:0005518	Increased mean corpuscular volume	6135	RPL11	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6125	RPL5	OMIM:612561
HP:0005518	Increased mean corpuscular volume	6125	RPL5	ORPHA:124
HP:0005518	Increased mean corpuscular volume	4194	MDM4	OMIM:618849
HP:0005518	Increased mean corpuscular volume	6201	RPS7	OMIM:612563
HP:0005518	Increased mean corpuscular volume	6201	RPS7	ORPHA:124
HP:0005518	Increased mean corpuscular volume	219285	SAMD9L	OMIM:252270
HP:0005518	Increased mean corpuscular volume	10058	ABCB6	ORPHA:90044
HP:0005518	Increased mean corpuscular volume	27249	MMADHC	OMIM:277410
HP:0005518	Increased mean corpuscular volume	1719	DHFR	OMIM:613839
HP:0005518	Increased mean corpuscular volume	6521	SLC4A1	ORPHA:3202
HP:0005518	Increased mean corpuscular volume	9780	PIEZO1	ORPHA:3202
HP:0005518	Increased mean corpuscular volume	1854	DUT	OMIM:620044
HP:0005518	Increased mean corpuscular volume	6223	RPS19	OMIM:105650
HP:0005518	Increased mean corpuscular volume	6223	RPS19	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6229	RPS24	OMIM:610629
HP:0005518	Increased mean corpuscular volume	6229	RPS24	ORPHA:124
HP:0005518	Increased mean corpuscular volume	54809	SAMD9	OMIM:619041
HP:0005518	Increased mean corpuscular volume	6138	RPL15	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6204	RPS10	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6224	RPS20	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6165	RPL35A	ORPHA:124
HP:0005518	Increased mean corpuscular volume	2623	GATA1	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6232	RPS27	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6231	RPS26	ORPHA:124
HP:0005518	Increased mean corpuscular volume	11224	RPL35	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6160	RPL31	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6218	RPS17	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6155	RPL27	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6154	RPL26	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6210	RPS15A	ORPHA:124
HP:0005518	Increased mean corpuscular volume	90121	TSR2	ORPHA:124
HP:0005518	Increased mean corpuscular volume	90121	TSR2	OMIM:300946
HP:0005518	Increased mean corpuscular volume	6141	RPL18	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6235	RPS29	ORPHA:124
HP:0005518	Increased mean corpuscular volume	6234	RPS28	ORPHA:124
HP:0005518	Increased mean corpuscular volume	51816	ADA2	ORPHA:124
HP:0005518	Increased mean corpuscular volume	23395	LARS2	OMIM:617021
HP:0005518	Increased mean corpuscular volume	29123	ANKRD11	ORPHA:261250
HP:0005518	Increased mean corpuscular volume	2120	ETV6	OMIM:616216
HP:0005518	Increased mean corpuscular volume	4552	MTRR	ORPHA:2169
HP:0005518	Increased mean corpuscular volume	26277	TINF2	OMIM:127550
HP:0005518	Increased mean corpuscular volume	7012	TERC	OMIM:127550
HP:0005518	Increased mean corpuscular volume	7015	TERT	OMIM:127550
HP:0005518	Increased mean corpuscular volume	79631	EFL1	ORPHA:811
HP:0005518	Increased mean corpuscular volume	51119	SBDS	ORPHA:811
HP:0005518	Increased mean corpuscular volume	6729	SRP54	ORPHA:811
HP:0005521	Disseminated intravascular coagulation	3572	IL6ST	OMIM:619751
HP:0005521	Disseminated intravascular coagulation	3988	LIPA	OMIM:278000
HP:0005521	Disseminated intravascular coagulation	5921	RASA1	ORPHA:90307
HP:0005521	Disseminated intravascular coagulation	6261	RYR1	ORPHA:466650
HP:0005521	Disseminated intravascular coagulation	6774	STAT3	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	5371	PML	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	5914	RARA	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	359948	IRF2BP2	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	81608	FIP1L1	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	4869	NPM1	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	5573	PRKAR1A	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	54880	BCOR	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	64859	NABP1	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	6777	STAT5B	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	4926	NUMA1	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	7704	ZBTB16	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	79718	TBL1XR1	ORPHA:520
HP:0005521	Disseminated intravascular coagulation	58484	NLRC4	OMIM:616050
HP:0005521	Disseminated intravascular coagulation	9054	NFS1	OMIM:619386
HP:0005521	Disseminated intravascular coagulation	3075	CFH	ORPHA:244242
HP:0005521	Disseminated intravascular coagulation	3426	CFI	ORPHA:244242
HP:0005521	Disseminated intravascular coagulation	4179	CD46	ORPHA:244242
HP:0005521	Disseminated intravascular coagulation	101101692	HELLPAR	ORPHA:244242
HP:0005521	Disseminated intravascular coagulation	5627	PROS1	OMIM:614514
HP:0005521	Disseminated intravascular coagulation	3053	SERPIND1	OMIM:612356
HP:0005521	Disseminated intravascular coagulation	23175	LPIN1	ORPHA:99845
HP:0005521	Disseminated intravascular coagulation	4512	MT-CO1	ORPHA:99845
HP:0005521	Disseminated intravascular coagulation	4514	MT-CO3	ORPHA:99845
HP:0005522	Pyridoxine-responsive sideroblastic anemia	55163	PNPO	ORPHA:79096
HP:0005522	Pyridoxine-responsive sideroblastic anemia	672	BRCA1	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	10459	MAD2L2	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	7516	XRCC2	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	29089	UBE2T	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	675	BRCA2	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	55120	FANCL	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2177	FANCD2	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2175	FANCA	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2187	FANCB	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2176	FANCC	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2178	FANCE	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2188	FANCF	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2189	FANCG	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	5888	RAD51	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	5889	RAD51C	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	55159	RFWD3	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	83990	BRIP1	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	57697	FANCM	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	79728	PALB2	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	84464	SLX4	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2072	ERCC4	ORPHA:84
HP:0005522	Pyridoxine-responsive sideroblastic anemia	55215	FANCI	ORPHA:84
HP:0005523	Lymphoproliferative disorder	4615	MYD88	ORPHA:33226
HP:0005523	Lymphoproliferative disorder	4615	MYD88	OMIM:153600
HP:0005523	Lymphoproliferative disorder	3561	IL2RG	ORPHA:276
HP:0005523	Lymphoproliferative disorder	970	CD70	OMIM:618261
HP:0005523	Lymphoproliferative disorder	7454	WAS	OMIM:301000
HP:0005523	Lymphoproliferative disorder	3845	KRAS	OMIM:614470
HP:0005523	Lymphoproliferative disorder	4893	NRAS	OMIM:614470
HP:0005523	Lymphoproliferative disorder	84061	MAGT1	OMIM:300853
HP:0005523	Lymphoproliferative disorder	939	CD27	OMIM:615122
HP:0005523	Lymphoproliferative disorder	3702	ITK	OMIM:613011
HP:0005523	Lymphoproliferative disorder	50485	SMARCAL1	ORPHA:1830
HP:0005523	Lymphoproliferative disorder	51816	ADA2	OMIM:615688
HP:0005523	Lymphoproliferative disorder	1503	CTPS1	OMIM:615897
HP:0005523	Lymphoproliferative disorder	5580	PRKCD	OMIM:615559
HP:0005523	Lymphoproliferative disorder	987	LRBA	OMIM:614700
HP:0005523	Lymphoproliferative disorder	7535	ZAP70	ORPHA:911
HP:0005523	Lymphoproliferative disorder	4173	MCM4	OMIM:609981
HP:0005525	Spontaneous hemolytic crises	6513	SLC2A1	ORPHA:168577
HP:0005525	Spontaneous hemolytic crises	2821	GPI	OMIM:613470
HP:0005525	Spontaneous hemolytic crises	2038	EPB42	ORPHA:822
HP:0005525	Spontaneous hemolytic crises	6521	SLC4A1	ORPHA:822
HP:0005525	Spontaneous hemolytic crises	6710	SPTB	ORPHA:822
HP:0005525	Spontaneous hemolytic crises	6708	SPTA1	ORPHA:822
HP:0005525	Spontaneous hemolytic crises	286	ANK1	ORPHA:822
HP:0005528	Bone marrow hypocellularity	128	ADH5	OMIM:619151
HP:0005528	Bone marrow hypocellularity	355	FAS	ORPHA:3261
HP:0005528	Bone marrow hypocellularity	356	FASLG	ORPHA:3261
HP:0005528	Bone marrow hypocellularity	5580	PRKCD	ORPHA:3261
HP:0005528	Bone marrow hypocellularity	843	CASP10	ORPHA:3261
HP:0005528	Bone marrow hypocellularity	10125	RASGRP1	ORPHA:3261
HP:0005528	Bone marrow hypocellularity	26277	TINF2	OMIM:268130
HP:0005528	Bone marrow hypocellularity	26277	TINF2	OMIM:127550
HP:0005528	Bone marrow hypocellularity	26277	TINF2	OMIM:613990
HP:0005528	Bone marrow hypocellularity	26277	TINF2	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	26277	TINF2	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	51750	RTEL1	OMIM:615190
HP:0005528	Bone marrow hypocellularity	51750	RTEL1	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	51750	RTEL1	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	2072	ERCC4	OMIM:615272
HP:0005528	Bone marrow hypocellularity	134218	DNAJC21	OMIM:617052
HP:0005528	Bone marrow hypocellularity	134218	DNAJC21	ORPHA:811
HP:0005528	Bone marrow hypocellularity	2623	GATA1	OMIM:300835
HP:0005528	Bone marrow hypocellularity	55651	NHP2	OMIM:224230
HP:0005528	Bone marrow hypocellularity	55651	NHP2	OMIM:613987
HP:0005528	Bone marrow hypocellularity	55651	NHP2	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	55505	NOP10	OMIM:224230
HP:0005528	Bone marrow hypocellularity	55505	NOP10	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	7015	TERT	OMIM:614742
HP:0005528	Bone marrow hypocellularity	7015	TERT	OMIM:127550
HP:0005528	Bone marrow hypocellularity	7015	TERT	OMIM:613989
HP:0005528	Bone marrow hypocellularity	7015	TERT	OMIM:609135
HP:0005528	Bone marrow hypocellularity	7015	TERT	ORPHA:88
HP:0005528	Bone marrow hypocellularity	7015	TERT	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	7015	TERT	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	5238	PGM3	ORPHA:443811
HP:0005528	Bone marrow hypocellularity	6154	RPL26	OMIM:614900
HP:0005528	Bone marrow hypocellularity	7012	TERC	OMIM:614743
HP:0005528	Bone marrow hypocellularity	7012	TERC	OMIM:127550
HP:0005528	Bone marrow hypocellularity	7012	TERC	ORPHA:88
HP:0005528	Bone marrow hypocellularity	7012	TERC	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	1736	DKC1	OMIM:305000
HP:0005528	Bone marrow hypocellularity	1736	DKC1	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	1736	DKC1	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	6916	TBXAS1	OMIM:231095
HP:0005528	Bone marrow hypocellularity	375748	ERCC6L2	OMIM:615715
HP:0005528	Bone marrow hypocellularity	81570	CLPB	ORPHA:445038
HP:0005528	Bone marrow hypocellularity	2624	GATA2	ORPHA:3226
HP:0005528	Bone marrow hypocellularity	2624	GATA2	ORPHA:98827
HP:0005528	Bone marrow hypocellularity	54790	TET2	ORPHA:75564
HP:0005528	Bone marrow hypocellularity	54790	TET2	ORPHA:98826
HP:0005528	Bone marrow hypocellularity	23451	SF3B1	ORPHA:75564
HP:0005528	Bone marrow hypocellularity	54809	SAMD9	OMIM:619041
HP:0005528	Bone marrow hypocellularity	114803	MYSM1	ORPHA:508542
HP:0005528	Bone marrow hypocellularity	114803	MYSM1	OMIM:618116
HP:0005528	Bone marrow hypocellularity	79991	STN1	OMIM:617341
HP:0005528	Bone marrow hypocellularity	55596	ZCCHC8	OMIM:618674
HP:0005528	Bone marrow hypocellularity	6731	SRP72	OMIM:614675
HP:0005528	Bone marrow hypocellularity	50485	SMARCAL1	ORPHA:1830
HP:0005528	Bone marrow hypocellularity	55215	FANCI	OMIM:609053
HP:0005528	Bone marrow hypocellularity	51816	ADA2	OMIM:615688
HP:0005528	Bone marrow hypocellularity	83990	BRIP1	OMIM:609054
HP:0005528	Bone marrow hypocellularity	65082	VPS33A	OMIM:617303
HP:0005528	Bone marrow hypocellularity	65082	VPS33A	ORPHA:505248
HP:0005528	Bone marrow hypocellularity	6117	RPA1	OMIM:619767
HP:0005528	Bone marrow hypocellularity	55135	WRAP53	OMIM:613988
HP:0005528	Bone marrow hypocellularity	55135	WRAP53	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	4683	NBN	OMIM:609135
HP:0005528	Bone marrow hypocellularity	5551	PRF1	OMIM:609135
HP:0005528	Bone marrow hypocellularity	5551	PRF1	ORPHA:88
HP:0005528	Bone marrow hypocellularity	51119	SBDS	OMIM:609135
HP:0005528	Bone marrow hypocellularity	51119	SBDS	ORPHA:811
HP:0005528	Bone marrow hypocellularity	51119	SBDS	ORPHA:88
HP:0005528	Bone marrow hypocellularity	3458	IFNG	OMIM:609135
HP:0005528	Bone marrow hypocellularity	3458	IFNG	ORPHA:88
HP:0005528	Bone marrow hypocellularity	1186	CLCN7	OMIM:166600
HP:0005528	Bone marrow hypocellularity	79631	EFL1	ORPHA:811
HP:0005528	Bone marrow hypocellularity	6729	SRP54	ORPHA:811
HP:0005528	Bone marrow hypocellularity	2188	FANCF	OMIM:603467
HP:0005528	Bone marrow hypocellularity	675	BRCA2	OMIM:605724
HP:0005528	Bone marrow hypocellularity	3930	LBR	OMIM:215140
HP:0005528	Bone marrow hypocellularity	2177	FANCD2	OMIM:227646
HP:0005528	Bone marrow hypocellularity	2176	FANCC	OMIM:227645
HP:0005528	Bone marrow hypocellularity	55120	FANCL	OMIM:614083
HP:0005528	Bone marrow hypocellularity	7040	TGFB1	OMIM:131300
HP:0005528	Bone marrow hypocellularity	6208	RPS14	ORPHA:86841
HP:0005528	Bone marrow hypocellularity	4194	MDM4	OMIM:618849
HP:0005528	Bone marrow hypocellularity	65057	ACD	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	65057	ACD	OMIM:616553
HP:0005528	Bone marrow hypocellularity	5073	PARN	ORPHA:3322
HP:0005528	Bone marrow hypocellularity	5073	PARN	OMIM:616353
HP:0005528	Bone marrow hypocellularity	5073	PARN	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	51311	TLR8	OMIM:301078
HP:0005528	Bone marrow hypocellularity	2778	GNAS	ORPHA:562
HP:0005528	Bone marrow hypocellularity	3712	IVD	OMIM:243500
HP:0005528	Bone marrow hypocellularity	51428	DDX41	OMIM:616871
HP:0005528	Bone marrow hypocellularity	5888	RAD51	OMIM:617244
HP:0005528	Bone marrow hypocellularity	10459	MAD2L2	OMIM:617243
HP:0005528	Bone marrow hypocellularity	57728	WDR19	OMIM:614378
HP:0005528	Bone marrow hypocellularity	80169	CTC1	OMIM:612199
HP:0005528	Bone marrow hypocellularity	80169	CTC1	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	79650	USB1	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	4869	NPM1	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	7298	TYMS	ORPHA:1775
HP:0005528	Bone marrow hypocellularity	29089	UBE2T	OMIM:616435
HP:0005528	Bone marrow hypocellularity	64858	DCLRE1B	OMIM:620133
HP:0005528	Bone marrow hypocellularity	2313	FLI1	ORPHA:2308
HP:0005528	Bone marrow hypocellularity	760	CA2	ORPHA:2785
HP:0005532	Macrocytic dyserythropoietic anemia	6135	RPL11	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6138	RPL15	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6229	RPS24	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6125	RPL5	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6204	RPS10	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6224	RPS20	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6165	RPL35A	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	2623	GATA1	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6223	RPS19	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6232	RPS27	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6231	RPS26	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	11224	RPL35	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6160	RPL31	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6218	RPS17	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6201	RPS7	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6155	RPL27	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6154	RPL26	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6210	RPS15A	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	90121	TSR2	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6141	RPL18	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6235	RPS29	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	6234	RPS28	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	51816	ADA2	ORPHA:124
HP:0005532	Macrocytic dyserythropoietic anemia	29127	RACGAP1	OMIM:619789
HP:0005532	Macrocytic dyserythropoietic anemia	146059	CDAN1	OMIM:224120
HP:0005535	Exercise-induced hemolysis	9780	PIEZO1	OMIM:194380
HP:0005537	Decreased mean platelet volume	2533	FYB1	OMIM:273900
HP:0005537	Decreased mean platelet volume	7454	WAS	OMIM:301000
HP:0005537	Decreased mean platelet volume	7454	WAS	OMIM:313900
HP:0005537	Decreased mean platelet volume	10095	ARPC1B	OMIM:617718
HP:0005541	Congenital agranulocytosis	1991	ELANE	OMIM:202700
HP:0005541	Congenital agranulocytosis	204	AK2	OMIM:267500
HP:0005542	Prolonged whole-blood clotting time	2158	F9	OMIM:306900
HP:0005542	Prolonged whole-blood clotting time	7450	VWF	OMIM:193400
HP:0005542	Prolonged whole-blood clotting time	2153	F5	OMIM:227400
HP:0005542	Prolonged whole-blood clotting time	2161	F12	OMIM:234000
HP:0005543	Reduced protein C activity	4351	MPI	ORPHA:79319
HP:0005543	Reduced protein C activity	8813	DPM1	OMIM:608799
HP:0005543	Reduced protein C activity	8813	DPM1	ORPHA:79322
HP:0005543	Reduced protein C activity	2677	GGCX	OMIM:277450
HP:0005543	Reduced protein C activity	5624	PROC	OMIM:612304
HP:0005543	Reduced protein C activity	5624	PROC	OMIM:176860
HP:0005543	Reduced protein C activity	29929	ALG6	ORPHA:79320
HP:0005543	Reduced protein C activity	55768	NGLY1	ORPHA:404454
HP:0005543	Reduced protein C activity	2683	B4GALT1	ORPHA:79332
HP:0005543	Reduced protein C activity	79087	ALG12	ORPHA:79324
HP:0005543	Reduced protein C activity	79053	ALG8	ORPHA:79325
HP:0004810	Congenital hypoplastic anemia	6023	RMRP	OMIM:250250
HP:0004810	Congenital hypoplastic anemia	9663	LPIN2	ORPHA:77297
HP:0004810	Congenital hypoplastic anemia	374879	ZNF699	OMIM:619488
HP:0004810	Congenital hypoplastic anemia	9493	KIF23	OMIM:105600
HP:0004810	Congenital hypoplastic anemia	6223	RPS19	OMIM:105650
HP:0005546	Increased red cell osmotic resistance	8671	SLC4A4	OMIM:604278
HP:0005546	Increased red cell osmotic resistance	3043	HBB	ORPHA:2133
HP:0005547	Myeloproliferative disorder	613	BCR	ORPHA:521
HP:0005547	Myeloproliferative disorder	25	ABL1	ORPHA:521
HP:0005547	Myeloproliferative disorder	861	RUNX1	ORPHA:521
HP:0005547	Myeloproliferative disorder	210	ALAD	ORPHA:100924
HP:0005547	Myeloproliferative disorder	2623	GATA1	OMIM:190685
HP:0005547	Myeloproliferative disorder	5159	PDGFRB	OMIM:131440
HP:0005547	Myeloproliferative disorder	3717	JAK2	OMIM:254450
HP:0005547	Myeloproliferative disorder	10019	SH2B3	OMIM:254450
HP:0005547	Myeloproliferative disorder	811	CALR	OMIM:254450
HP:0005547	Myeloproliferative disorder	4352	MPL	OMIM:254450
HP:0005547	Myeloproliferative disorder	171023	ASXL1	ORPHA:98849
HP:0005547	Myeloproliferative disorder	54790	TET2	ORPHA:98849
HP:0005547	Myeloproliferative disorder	3815	KIT	ORPHA:98849
HP:0005547	Myeloproliferative disorder	6427	SRSF2	ORPHA:98849
HP:0005547	Myeloproliferative disorder	5156	PDGFRA	OMIM:607685
HP:0005547	Myeloproliferative disorder	2624	GATA2	ORPHA:3226
HP:0005548	Megakaryocytopenia	4352	MPL	OMIM:604498
HP:0005548	Megakaryocytopenia	9630	GNA14	ORPHA:1063
HP:0005548	Megakaryocytopenia	57169	ZNFX1	OMIM:619644
HP:0005548	Megakaryocytopenia	3207	HOXA11	OMIM:605432
HP:0005548	Megakaryocytopenia	56992	KIF15	OMIM:619981
HP:0001927	Acanthocytosis	126410	CYP4F22	OMIM:604777
HP:0001927	Acanthocytosis	4547	MTTP	ORPHA:14
HP:0001927	Acanthocytosis	4547	MTTP	OMIM:200100
HP:0001927	Acanthocytosis	7504	XK	OMIM:300842
HP:0001927	Acanthocytosis	2623	GATA1	OMIM:300367
HP:0001927	Acanthocytosis	23230	VPS13A	OMIM:200150
HP:0001927	Acanthocytosis	23230	VPS13A	ORPHA:2388
HP:0001927	Acanthocytosis	3783	KCNN4	OMIM:616689
HP:0001927	Acanthocytosis	790	CAD	OMIM:616457
HP:0001927	Acanthocytosis	1861	TOR1A	OMIM:618947
HP:0001927	Acanthocytosis	6710	SPTB	OMIM:616649
HP:0001927	Acanthocytosis	338	APOB	OMIM:615558
HP:0001927	Acanthocytosis	51128	SAR1B	ORPHA:71
HP:0001927	Acanthocytosis	80025	PANK2	OMIM:607236
HP:0001927	Acanthocytosis	80025	PANK2	OMIM:234200
HP:0001927	Acanthocytosis	6309	SC5D	OMIM:607330
HP:0001872	Abnormality of thrombocytes	6335	SCN9A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	11280	SCN11A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	6336	SCN10A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	26191	PTPN22	ORPHA:397
HP:0001872	Abnormality of thrombocytes	3106	HLA-B	ORPHA:397
HP:0001872	Abnormality of thrombocytes	3123	HLA-DRB1	ORPHA:397
HP:0001872	Abnormality of thrombocytes	8974	P4HA2	ORPHA:397
HP:0001872	Abnormality of thrombocytes	7157	TP53	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	114548	NLRP3	ORPHA:1451
HP:0001872	Abnormality of thrombocytes	83706	FERMT3	OMIM:612840
HP:0001872	Abnormality of thrombocytes	5167	ENPP1	ORPHA:758
HP:0001872	Abnormality of thrombocytes	368	ABCC6	ORPHA:758
HP:0001872	Abnormality of thrombocytes	1312	COMT	ORPHA:567
HP:0001872	Abnormality of thrombocytes	221037	JMJD1C	ORPHA:567
HP:0001872	Abnormality of thrombocytes	6239	RREB1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	6899	TBX1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	7290	HIRA	ORPHA:567
HP:0001872	Abnormality of thrombocytes	9632	SEC24C	ORPHA:567
HP:0001872	Abnormality of thrombocytes	7353	UFD1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	421	ARVCF	ORPHA:567
HP:0001872	Abnormality of thrombocytes	84876	ORAI1	ORPHA:3204
HP:0001872	Abnormality of thrombocytes	6786	STIM1	ORPHA:3204
HP:0001872	Abnormality of thrombocytes	201595	STT3B	OMIM:615597
HP:0001872	Abnormality of thrombocytes	201595	STT3B	ORPHA:370924
HP:0001872	Abnormality of thrombocytes	1736	DKC1	OMIM:305000
HP:0001872	Abnormality of thrombocytes	1736	DKC1	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	1736	DKC1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	114803	MYSM1	ORPHA:508542
HP:0001872	Abnormality of thrombocytes	114803	MYSM1	OMIM:618116
HP:0001872	Abnormality of thrombocytes	2175	FANCA	OMIM:227650
HP:0001872	Abnormality of thrombocytes	2175	FANCA	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2120	ETV6	OMIM:616216
HP:0001872	Abnormality of thrombocytes	166378	AFG2A	OMIM:616577
HP:0001872	Abnormality of thrombocytes	5184	PEPD	OMIM:170100
HP:0001872	Abnormality of thrombocytes	65082	VPS33A	OMIM:617303
HP:0001872	Abnormality of thrombocytes	65082	VPS33A	ORPHA:505248
HP:0001872	Abnormality of thrombocytes	8526	DGKE	OMIM:615008
HP:0001872	Abnormality of thrombocytes	2188	FANCF	OMIM:603467
HP:0001872	Abnormality of thrombocytes	2188	FANCF	ORPHA:84
HP:0001872	Abnormality of thrombocytes	8029	CUBN	ORPHA:35858
HP:0001872	Abnormality of thrombocytes	81693	AMN	ORPHA:35858
HP:0001872	Abnormality of thrombocytes	5155	PDGFB	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	9213	XPR1	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	5159	PDGFRB	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	57462	MYORG	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	6575	SLC20A2	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	58494	JAM2	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	1716	DGUOK	OMIM:251880
HP:0001872	Abnormality of thrombocytes	7386	UQCRFS1	OMIM:618775
HP:0001872	Abnormality of thrombocytes	5442	POLRMT	OMIM:619743
HP:0001872	Abnormality of thrombocytes	80739	MPIG6B	OMIM:617441
HP:0001872	Abnormality of thrombocytes	56992	KIF15	OMIM:619981
HP:0001872	Abnormality of thrombocytes	56992	KIF15	ORPHA:261323
HP:0001872	Abnormality of thrombocytes	950	SCARB2	OMIM:254900
HP:0001872	Abnormality of thrombocytes	950	SCARB2	ORPHA:77259
HP:0001872	Abnormality of thrombocytes	3981	LIG4	ORPHA:235
HP:0001872	Abnormality of thrombocytes	3981	LIG4	OMIM:606593
HP:0001872	Abnormality of thrombocytes	54888	NSUN2	ORPHA:235
HP:0001872	Abnormality of thrombocytes	9056	SLC7A7	ORPHA:470
HP:0001872	Abnormality of thrombocytes	9056	SLC7A7	OMIM:222700
HP:0001872	Abnormality of thrombocytes	3572	IL6ST	OMIM:619751
HP:0001872	Abnormality of thrombocytes	54914	FOCAD	OMIM:619991
HP:0001872	Abnormality of thrombocytes	57167	SALL4	OMIM:147750
HP:0001872	Abnormality of thrombocytes	57167	SALL4	ORPHA:2307
HP:0001872	Abnormality of thrombocytes	166785	MMAA	OMIM:251100
HP:0001872	Abnormality of thrombocytes	64421	DCLRE1C	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5896	RAG1	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5896	RAG1	ORPHA:331206
HP:0001872	Abnormality of thrombocytes	5897	RAG2	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5897	RAG2	ORPHA:331206
HP:0001872	Abnormality of thrombocytes	5551	PRF1	OMIM:603553
HP:0001872	Abnormality of thrombocytes	5551	PRF1	ORPHA:540
HP:0001872	Abnormality of thrombocytes	5551	PRF1	ORPHA:88
HP:0001872	Abnormality of thrombocytes	8676	STX11	OMIM:603552
HP:0001872	Abnormality of thrombocytes	8676	STX11	ORPHA:540
HP:0001872	Abnormality of thrombocytes	57169	ZNFX1	OMIM:619644
HP:0001872	Abnormality of thrombocytes	150274	HSCB	OMIM:619523
HP:0001872	Abnormality of thrombocytes	11311	VPS45	OMIM:615285
HP:0001872	Abnormality of thrombocytes	50485	SMARCAL1	ORPHA:1830
HP:0001872	Abnormality of thrombocytes	50485	SMARCAL1	OMIM:242900
HP:0001872	Abnormality of thrombocytes	2542	SLC37A4	OMIM:619525
HP:0001872	Abnormality of thrombocytes	7841	MOGS	ORPHA:79330
HP:0001872	Abnormality of thrombocytes	540	ATP7B	OMIM:277900
HP:0001872	Abnormality of thrombocytes	540	ATP7B	ORPHA:905
HP:0001872	Abnormality of thrombocytes	19	ABCA1	ORPHA:31150
HP:0001872	Abnormality of thrombocytes	9968	MED12	OMIM:301068
HP:0001872	Abnormality of thrombocytes	2189	FANCG	OMIM:614082
HP:0001872	Abnormality of thrombocytes	2189	FANCG	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5692	PSMB4	OMIM:617591
HP:0001872	Abnormality of thrombocytes	5698	PSMB9	OMIM:617591
HP:0001872	Abnormality of thrombocytes	6603	SMARCD2	OMIM:617475
HP:0001872	Abnormality of thrombocytes	25836	NIPBL	OMIM:122470
HP:0001872	Abnormality of thrombocytes	79087	ALG12	ORPHA:79324
HP:0001872	Abnormality of thrombocytes	79053	ALG8	ORPHA:79325
HP:0001872	Abnormality of thrombocytes	79053	ALG8	OMIM:608104
HP:0001872	Abnormality of thrombocytes	51311	TLR8	OMIM:301078
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:77261
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:77259
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:230800
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:2072
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:230900
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:608013
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:231000
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:85212
HP:0001872	Abnormality of thrombocytes	51645	PPIL1	OMIM:619301
HP:0001872	Abnormality of thrombocytes	51362	CDC40	OMIM:619302
HP:0001872	Abnormality of thrombocytes	81570	CLPB	OMIM:616271
HP:0001872	Abnormality of thrombocytes	10459	MAD2L2	OMIM:617243
HP:0001872	Abnormality of thrombocytes	10459	MAD2L2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5277	PIGA	OMIM:301072
HP:0001872	Abnormality of thrombocytes	5277	PIGA	ORPHA:447
HP:0001872	Abnormality of thrombocytes	4594	MMUT	ORPHA:79312
HP:0001872	Abnormality of thrombocytes	4594	MMUT	ORPHA:289916
HP:0001872	Abnormality of thrombocytes	4594	MMUT	OMIM:251000
HP:0001872	Abnormality of thrombocytes	2187	FANCB	OMIM:300514
HP:0001872	Abnormality of thrombocytes	2187	FANCB	ORPHA:84
HP:0001872	Abnormality of thrombocytes	4179	CD46	OMIM:612922
HP:0001872	Abnormality of thrombocytes	4179	CD46	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	6916	TBXAS1	OMIM:231095
HP:0001872	Abnormality of thrombocytes	629	CFB	OMIM:612924
HP:0001872	Abnormality of thrombocytes	3426	CFI	OMIM:612923
HP:0001872	Abnormality of thrombocytes	3426	CFI	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	959	CD40LG	OMIM:308230
HP:0001872	Abnormality of thrombocytes	7056	THBD	OMIM:612926
HP:0001872	Abnormality of thrombocytes	718	C3	OMIM:612925
HP:0001872	Abnormality of thrombocytes	201294	UNC13D	ORPHA:540
HP:0001872	Abnormality of thrombocytes	6813	STXBP2	ORPHA:540
HP:0001872	Abnormality of thrombocytes	6813	STXBP2	OMIM:613101
HP:0001872	Abnormality of thrombocytes	6888	TALDO1	ORPHA:101028
HP:0001872	Abnormality of thrombocytes	6888	TALDO1	OMIM:606003
HP:0001872	Abnormality of thrombocytes	58484	NLRC4	OMIM:616050
HP:0001872	Abnormality of thrombocytes	29887	SNX10	OMIM:615085
HP:0001872	Abnormality of thrombocytes	23395	LARS2	OMIM:617021
HP:0001872	Abnormality of thrombocytes	51119	SBDS	OMIM:260400
HP:0001872	Abnormality of thrombocytes	51119	SBDS	ORPHA:811
HP:0001872	Abnormality of thrombocytes	51119	SBDS	ORPHA:88
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	OMIM:260400
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	OMIM:617052
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	ORPHA:811
HP:0001872	Abnormality of thrombocytes	6729	SRP54	OMIM:260400
HP:0001872	Abnormality of thrombocytes	6729	SRP54	ORPHA:811
HP:0001872	Abnormality of thrombocytes	4952	OCRL	ORPHA:534
HP:0001872	Abnormality of thrombocytes	331	XIAP	OMIM:308240
HP:0001872	Abnormality of thrombocytes	4068	SH2D1A	OMIM:308240
HP:0001872	Abnormality of thrombocytes	427	ASAH1	ORPHA:333
HP:0001872	Abnormality of thrombocytes	537	ATP6AP1	OMIM:300972
HP:0001872	Abnormality of thrombocytes	7922	SLC39A7	OMIM:619693
HP:0001872	Abnormality of thrombocytes	50619	DEF6	OMIM:619573
HP:0001872	Abnormality of thrombocytes	8260	NAA10	OMIM:300855
HP:0001872	Abnormality of thrombocytes	3394	IRF8	OMIM:226990
HP:0001872	Abnormality of thrombocytes	11274	USP18	OMIM:617397
HP:0001872	Abnormality of thrombocytes	55750	AGK	OMIM:212350
HP:0001872	Abnormality of thrombocytes	26276	VPS33B	OMIM:208085
HP:0001872	Abnormality of thrombocytes	546	ATRX	ORPHA:231401
HP:0001872	Abnormality of thrombocytes	55340	GIMAP5	OMIM:619463
HP:0001872	Abnormality of thrombocytes	56244	BTNL2	ORPHA:797
HP:0001872	Abnormality of thrombocytes	5660	PSAP	OMIM:610539
HP:0001872	Abnormality of thrombocytes	54809	SAMD9	OMIM:617053
HP:0001872	Abnormality of thrombocytes	54809	SAMD9	OMIM:619041
HP:0001872	Abnormality of thrombocytes	55651	NHP2	OMIM:224230
HP:0001872	Abnormality of thrombocytes	55651	NHP2	OMIM:613987
HP:0001872	Abnormality of thrombocytes	55651	NHP2	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	55505	NOP10	OMIM:224230
HP:0001872	Abnormality of thrombocytes	55505	NOP10	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	8567	MADD	OMIM:619004
HP:0001872	Abnormality of thrombocytes	8567	MADD	OMIM:619005
HP:0001872	Abnormality of thrombocytes	29123	ANKRD11	ORPHA:261250
HP:0001872	Abnormality of thrombocytes	6948	TCN2	ORPHA:859
HP:0001872	Abnormality of thrombocytes	3516	RBPJ	ORPHA:974
HP:0001872	Abnormality of thrombocytes	4851	NOTCH1	ORPHA:974
HP:0001872	Abnormality of thrombocytes	57514	ARHGAP31	ORPHA:974
HP:0001872	Abnormality of thrombocytes	57572	DOCK6	ORPHA:974
HP:0001872	Abnormality of thrombocytes	285203	EOGT	ORPHA:974
HP:0001872	Abnormality of thrombocytes	54567	DLL4	ORPHA:974
HP:0001872	Abnormality of thrombocytes	199221	DZIP1L	ORPHA:731
HP:0001872	Abnormality of thrombocytes	5314	PKHD1	ORPHA:731
HP:0001872	Abnormality of thrombocytes	2177	FANCD2	OMIM:227646
HP:0001872	Abnormality of thrombocytes	2177	FANCD2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2176	FANCC	OMIM:227645
HP:0001872	Abnormality of thrombocytes	2176	FANCC	ORPHA:84
HP:0001872	Abnormality of thrombocytes	7390	UROS	OMIM:263700
HP:0001872	Abnormality of thrombocytes	7390	UROS	ORPHA:79277
HP:0001872	Abnormality of thrombocytes	51371	POMP	OMIM:618048
HP:0001872	Abnormality of thrombocytes	5557	PRIM1	OMIM:620005
HP:0001872	Abnormality of thrombocytes	4683	NBN	ORPHA:647
HP:0001872	Abnormality of thrombocytes	4683	NBN	OMIM:251260
HP:0001872	Abnormality of thrombocytes	1719	DHFR	OMIM:613839
HP:0001872	Abnormality of thrombocytes	5371	PML	ORPHA:520
HP:0001872	Abnormality of thrombocytes	5914	RARA	ORPHA:520
HP:0001872	Abnormality of thrombocytes	81608	FIP1L1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4869	NPM1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4869	NPM1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	5573	PRKAR1A	ORPHA:520
HP:0001872	Abnormality of thrombocytes	54880	BCOR	ORPHA:520
HP:0001872	Abnormality of thrombocytes	64859	NABP1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	6777	STAT5B	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4926	NUMA1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	7704	ZBTB16	ORPHA:520
HP:0001872	Abnormality of thrombocytes	79718	TBL1XR1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	5696	PSMB8	OMIM:256040
HP:0001872	Abnormality of thrombocytes	54938	SARS2	OMIM:613845
HP:0001872	Abnormality of thrombocytes	128	ADH5	OMIM:619151
HP:0001872	Abnormality of thrombocytes	171023	ASXL1	ORPHA:98850
HP:0001872	Abnormality of thrombocytes	171023	ASXL1	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	6427	SRSF2	ORPHA:98850
HP:0001872	Abnormality of thrombocytes	6427	SRSF2	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	10312	TCIRG1	OMIM:259700
HP:0001872	Abnormality of thrombocytes	10312	TCIRG1	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	3815	KIT	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	10667	FARS2	OMIM:614946
HP:0001872	Abnormality of thrombocytes	55788	LMBRD1	OMIM:277380
HP:0001872	Abnormality of thrombocytes	3141	HLCS	OMIM:253270
HP:0001872	Abnormality of thrombocytes	3141	HLCS	ORPHA:79242
HP:0001872	Abnormality of thrombocytes	7015	TERT	OMIM:613989
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:88
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	7015	TERT	OMIM:127550
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	79631	EFL1	ORPHA:811
HP:0001872	Abnormality of thrombocytes	79631	EFL1	OMIM:617941
HP:0001872	Abnormality of thrombocytes	25839	COG4	ORPHA:263501
HP:0001872	Abnormality of thrombocytes	7012	TERC	ORPHA:88
HP:0001872	Abnormality of thrombocytes	7012	TERC	OMIM:127550
HP:0001872	Abnormality of thrombocytes	7012	TERC	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	9630	GNA14	ORPHA:1063
HP:0001872	Abnormality of thrombocytes	26277	TINF2	OMIM:613990
HP:0001872	Abnormality of thrombocytes	26277	TINF2	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	26277	TINF2	OMIM:127550
HP:0001872	Abnormality of thrombocytes	26277	TINF2	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	348	APOE	OMIM:269600
HP:0001872	Abnormality of thrombocytes	348	APOE	ORPHA:158029
HP:0001872	Abnormality of thrombocytes	3988	LIPA	OMIM:278000
HP:0001872	Abnormality of thrombocytes	55858	TMEM165	OMIM:614727
HP:0001872	Abnormality of thrombocytes	9103	FCGR2C	ORPHA:3002
HP:0001872	Abnormality of thrombocytes	672	BRCA1	ORPHA:84
HP:0001872	Abnormality of thrombocytes	7516	XRCC2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	29089	UBE2T	ORPHA:84
HP:0001872	Abnormality of thrombocytes	29089	UBE2T	OMIM:616435
HP:0001872	Abnormality of thrombocytes	675	BRCA2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	55120	FANCL	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2178	FANCE	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2178	FANCE	OMIM:600901
HP:0001872	Abnormality of thrombocytes	5888	RAD51	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5889	RAD51C	ORPHA:84
HP:0001872	Abnormality of thrombocytes	55159	RFWD3	ORPHA:84
HP:0001872	Abnormality of thrombocytes	83990	BRIP1	ORPHA:84
HP:0001872	Abnormality of thrombocytes	57697	FANCM	ORPHA:84
HP:0001872	Abnormality of thrombocytes	79728	PALB2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	84464	SLX4	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2072	ERCC4	ORPHA:84
HP:0001872	Abnormality of thrombocytes	55215	FANCI	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5095	PCCA	OMIM:606054
HP:0001872	Abnormality of thrombocytes	5096	PCCB	OMIM:606054
HP:0001872	Abnormality of thrombocytes	7466	WFS1	OMIM:222300
HP:0001872	Abnormality of thrombocytes	10352	WARS2	ORPHA:572798
HP:0001872	Abnormality of thrombocytes	10352	WARS2	OMIM:617710
HP:0001872	Abnormality of thrombocytes	342618	SLFN14	OMIM:616913
HP:0001872	Abnormality of thrombocytes	4598	MVK	OMIM:610377
HP:0001872	Abnormality of thrombocytes	113235	SLC46A1	OMIM:229050
HP:0001872	Abnormality of thrombocytes	113235	SLC46A1	ORPHA:90045
HP:0001872	Abnormality of thrombocytes	28976	ACAD9	ORPHA:99901
HP:0001872	Abnormality of thrombocytes	28976	ACAD9	OMIM:611126
HP:0001872	Abnormality of thrombocytes	5826	ABCD4	OMIM:614857
HP:0001872	Abnormality of thrombocytes	2321	FLT1	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	219736	STOX1	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	10699	CORIN	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	375748	ERCC6L2	OMIM:615715
HP:0001872	Abnormality of thrombocytes	157570	ESCO2	ORPHA:3103
HP:0001872	Abnormality of thrombocytes	2624	GATA2	ORPHA:3226
HP:0001872	Abnormality of thrombocytes	55719	SLF2	OMIM:620184
HP:0001872	Abnormality of thrombocytes	23137	SMC5	OMIM:620185
HP:0001872	Abnormality of thrombocytes	55027	HEATR3	OMIM:620072
HP:0001872	Abnormality of thrombocytes	26227	PHGDH	OMIM:601815
HP:0001872	Abnormality of thrombocytes	6714	SRC	OMIM:616937
HP:0001872	Abnormality of thrombocytes	695	BTK	ORPHA:47
HP:0001872	Abnormality of thrombocytes	4846	NOS3	OMIM:189800
HP:0001872	Abnormality of thrombocytes	1186	CLCN7	OMIM:611490
HP:0001872	Abnormality of thrombocytes	1186	CLCN7	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	9939	RBM8A	ORPHA:3320
HP:0001872	Abnormality of thrombocytes	9939	RBM8A	OMIM:274000
HP:0001872	Abnormality of thrombocytes	51750	RTEL1	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	51750	RTEL1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	65057	ACD	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	5073	PARN	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	5073	PARN	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	28962	OSTM1	OMIM:259720
HP:0001872	Abnormality of thrombocytes	51095	TRNT1	OMIM:616959
HP:0001872	Abnormality of thrombocytes	3075	CFH	OMIM:235400
HP:0001872	Abnormality of thrombocytes	3075	CFH	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	3078	CFHR1	OMIM:235400
HP:0001872	Abnormality of thrombocytes	10878	CFHR3	OMIM:235400
HP:0001872	Abnormality of thrombocytes	8600	TNFSF11	OMIM:259710
HP:0001872	Abnormality of thrombocytes	3932	LCK	OMIM:615758
HP:0001872	Abnormality of thrombocytes	6775	STAT4	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	6696	SPP1	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	3654	IRAK1	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	6261	RYR1	ORPHA:466650
HP:0001872	Abnormality of thrombocytes	55593	OTUD5	OMIM:301056
HP:0001872	Abnormality of thrombocytes	7317	UBA1	OMIM:301054
HP:0001872	Abnormality of thrombocytes	10560	SLC19A2	ORPHA:49827
HP:0001872	Abnormality of thrombocytes	10560	SLC19A2	OMIM:249270
HP:0001872	Abnormality of thrombocytes	11093	ADAMTS13	OMIM:274150
HP:0001872	Abnormality of thrombocytes	1287	COL4A5	OMIM:301050
HP:0001872	Abnormality of thrombocytes	79840	NHEJ1	ORPHA:169079
HP:0001872	Abnormality of thrombocytes	10320	IKZF1	ORPHA:36426
HP:0001872	Abnormality of thrombocytes	7128	TNFAIP3	OMIM:616744
HP:0001872	Abnormality of thrombocytes	3431	SP110	ORPHA:79124
HP:0001872	Abnormality of thrombocytes	3712	IVD	OMIM:243500
HP:0001872	Abnormality of thrombocytes	8985	PLOD3	OMIM:612394
HP:0001872	Abnormality of thrombocytes	57511	COG6	OMIM:614576
HP:0001872	Abnormality of thrombocytes	2475	MTOR	OMIM:616638
HP:0001872	Abnormality of thrombocytes	326625	MMAB	OMIM:251110
HP:0001872	Abnormality of thrombocytes	760	CA2	ORPHA:2785
HP:0001872	Abnormality of thrombocytes	9842	PLEKHM1	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	2065	ERBB3	OMIM:133180
HP:0001872	Abnormality of thrombocytes	101101692	HELLPAR	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	100506658	OCLN	OMIM:251290
HP:0001872	Abnormality of thrombocytes	5294	PIK3CG	OMIM:619802
HP:0001872	Abnormality of thrombocytes	25974	MMACHC	ORPHA:79282
HP:0001872	Abnormality of thrombocytes	25974	MMACHC	OMIM:277400
HP:0001872	Abnormality of thrombocytes	80169	CTC1	OMIM:612199
HP:0001872	Abnormality of thrombocytes	80169	CTC1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	79650	USB1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	55135	WRAP53	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	7298	TYMS	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	2212	FCGR2A	OMIM:152700
HP:0001872	Abnormality of thrombocytes	2213	FCGR2B	OMIM:152700
HP:0001872	Abnormality of thrombocytes	1773	DNASE1	OMIM:152700
HP:0001872	Abnormality of thrombocytes	1794	DOCK2	OMIM:616433
HP:0001872	Abnormality of thrombocytes	5052	PRDX1	OMIM:277400
HP:0001872	Abnormality of thrombocytes	38	ACAT1	ORPHA:134
HP:0001872	Abnormality of thrombocytes	3043	HBB	ORPHA:232
HP:0001872	Abnormality of thrombocytes	9051	PSTPIP1	OMIM:604416
HP:0001872	Abnormality of thrombocytes	4352	MPL	ORPHA:71493
HP:0001872	Abnormality of thrombocytes	4352	MPL	ORPHA:824
HP:0001872	Abnormality of thrombocytes	4352	MPL	OMIM:601977
HP:0001872	Abnormality of thrombocytes	7066	THPO	ORPHA:71493
HP:0001872	Abnormality of thrombocytes	7066	THPO	OMIM:187950
HP:0001872	Abnormality of thrombocytes	3717	JAK2	ORPHA:71493
HP:0001872	Abnormality of thrombocytes	3717	JAK2	OMIM:263300
HP:0001872	Abnormality of thrombocytes	3717	JAK2	OMIM:614521
HP:0001872	Abnormality of thrombocytes	3717	JAK2	ORPHA:824
HP:0001872	Abnormality of thrombocytes	3155	HMGCL	ORPHA:20
HP:0001872	Abnormality of thrombocytes	5966	REL	OMIM:619652
HP:0001872	Abnormality of thrombocytes	57217	TTC7A	OMIM:243150
HP:0001872	Abnormality of thrombocytes	9652	SKIC3	OMIM:222470
HP:0001872	Abnormality of thrombocytes	9652	SKIC3	ORPHA:84064
HP:0001872	Abnormality of thrombocytes	6208	RPS14	ORPHA:86841
HP:0001872	Abnormality of thrombocytes	3783	KCNN4	OMIM:616689
HP:0001872	Abnormality of thrombocytes	3458	IFNG	OMIM:618963
HP:0001872	Abnormality of thrombocytes	340061	STING1	OMIM:615934
HP:0001872	Abnormality of thrombocytes	811	CALR	ORPHA:824
HP:0001872	Abnormality of thrombocytes	811	CALR	OMIM:187950
HP:0001872	Abnormality of thrombocytes	54790	TET2	ORPHA:824
HP:0001872	Abnormality of thrombocytes	54790	TET2	ORPHA:75564
HP:0001872	Abnormality of thrombocytes	3117	HLA-DQA1	OMIM:212750
HP:0001872	Abnormality of thrombocytes	3119	HLA-DQB1	OMIM:212750
HP:0001872	Abnormality of thrombocytes	526	ATP6V1B2	ORPHA:79500
HP:0001872	Abnormality of thrombocytes	57465	TBC1D24	ORPHA:79500
HP:0001872	Abnormality of thrombocytes	6223	RPS19	OMIM:105650
HP:0001872	Abnormality of thrombocytes	6223	RPS19	ORPHA:124
HP:0001872	Abnormality of thrombocytes	23451	SF3B1	ORPHA:75564
HP:0001872	Abnormality of thrombocytes	5293	PIK3CD	OMIM:619281
HP:0001872	Abnormality of thrombocytes	613	BCR	ORPHA:521
HP:0001872	Abnormality of thrombocytes	25	ABL1	ORPHA:521
HP:0001872	Abnormality of thrombocytes	861	RUNX1	ORPHA:521
HP:0001872	Abnormality of thrombocytes	6135	RPL11	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6138	RPL15	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6229	RPS24	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6125	RPL5	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6204	RPS10	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6224	RPS20	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6165	RPL35A	ORPHA:124
HP:0001872	Abnormality of thrombocytes	2623	GATA1	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6232	RPS27	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6231	RPS26	ORPHA:124
HP:0001872	Abnormality of thrombocytes	11224	RPL35	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6160	RPL31	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6218	RPS17	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6201	RPS7	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6155	RPL27	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6154	RPL26	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6210	RPS15A	ORPHA:124
HP:0001872	Abnormality of thrombocytes	90121	TSR2	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6141	RPL18	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6235	RPS29	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6234	RPS28	ORPHA:124
HP:0001872	Abnormality of thrombocytes	51816	ADA2	ORPHA:124
HP:0001872	Abnormality of thrombocytes	51816	ADA2	OMIM:615688
HP:0001872	Abnormality of thrombocytes	2000	ELF4	OMIM:301074
HP:0001872	Abnormality of thrombocytes	10019	SH2B3	OMIM:187950
HP:0001872	Abnormality of thrombocytes	4522	MTHFD1	OMIM:617780
HP:0001872	Abnormality of thrombocytes	1604	CD55	OMIM:226300
HP:0001872	Abnormality of thrombocytes	144811	LACC1	OMIM:618795
HP:0001872	Abnormality of thrombocytes	7040	TGFB1	OMIM:618213
HP:0001872	Abnormality of thrombocytes	4141	MARS1	OMIM:615486
HP:0001872	Abnormality of thrombocytes	3162	HMOX1	OMIM:614034
HP:0001872	Abnormality of thrombocytes	6499	SKIC2	ORPHA:84064
HP:0001872	Abnormality of thrombocytes	3459	IFNGR1	OMIM:209950
HP:0001872	Abnormality of thrombocytes	1991	ELANE	OMIM:202700
HP:0001872	Abnormality of thrombocytes	5373	PMM2	OMIM:212065
HP:0001872	Abnormality of thrombocytes	3921	RPSA	OMIM:271400
HP:0001872	Abnormality of thrombocytes	3930	LBR	OMIM:169400
HP:0001872	Abnormality of thrombocytes	948	CD36	OMIM:608404
HP:0001872	Abnormality of thrombocytes	9382	COG1	OMIM:611209
HP:0001872	Abnormality of thrombocytes	64241	ABCG8	OMIM:210250
HP:0001872	Abnormality of thrombocytes	6773	STAT2	OMIM:618886
HP:0001872	Abnormality of thrombocytes	2122	MECOM	OMIM:616738
HP:0001872	Abnormality of thrombocytes	3207	HOXA11	OMIM:605432
HP:0001872	Abnormality of thrombocytes	355	FAS	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	355	FAS	OMIM:601859
HP:0001872	Abnormality of thrombocytes	356	FASLG	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	356	FASLG	OMIM:601859
HP:0001872	Abnormality of thrombocytes	5580	PRKCD	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	5580	PRKCD	OMIM:615559
HP:0001872	Abnormality of thrombocytes	5580	PRKCD	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	843	CASP10	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	843	CASP10	OMIM:603909
HP:0001872	Abnormality of thrombocytes	10125	RASGRP1	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	10125	RASGRP1	OMIM:618534
HP:0001872	Abnormality of thrombocytes	6772	STAT1	ORPHA:391487
HP:0001872	Abnormality of thrombocytes	10043	TOM1	ORPHA:391487
HP:0001872	Abnormality of thrombocytes	4791	NFKB2	ORPHA:293978
HP:0001872	Abnormality of thrombocytes	4791	NFKB2	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	3702	ITK	OMIM:613011
HP:0001872	Abnormality of thrombocytes	975	CD81	OMIM:613496
HP:0001872	Abnormality of thrombocytes	975	CD81	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	6774	STAT3	OMIM:615952
HP:0001872	Abnormality of thrombocytes	4860	PNP	OMIM:613179
HP:0001872	Abnormality of thrombocytes	4860	PNP	ORPHA:760
HP:0001872	Abnormality of thrombocytes	987	LRBA	OMIM:614700
HP:0001872	Abnormality of thrombocytes	54440	SASH3	OMIM:301082
HP:0001872	Abnormality of thrombocytes	50943	FOXP3	OMIM:304790
HP:0001872	Abnormality of thrombocytes	50943	FOXP3	ORPHA:37042
HP:0001872	Abnormality of thrombocytes	7174	TPP2	ORPHA:444463
HP:0001872	Abnormality of thrombocytes	7174	TPP2	OMIM:619220
HP:0001872	Abnormality of thrombocytes	51284	TLR7	OMIM:301080
HP:0001872	Abnormality of thrombocytes	3575	IL7R	ORPHA:169154
HP:0001872	Abnormality of thrombocytes	3845	KRAS	OMIM:614470
HP:0001872	Abnormality of thrombocytes	4893	NRAS	OMIM:614470
HP:0001872	Abnormality of thrombocytes	56259	CTNNBL1	OMIM:619846
HP:0001872	Abnormality of thrombocytes	5994	RFXAP	ORPHA:572
HP:0001872	Abnormality of thrombocytes	4261	CIITA	ORPHA:572
HP:0001872	Abnormality of thrombocytes	5993	RFX5	ORPHA:572
HP:0001872	Abnormality of thrombocytes	8625	RFXANK	ORPHA:572
HP:0001872	Abnormality of thrombocytes	54	ACP5	OMIM:607944
HP:0001872	Abnormality of thrombocytes	54	ACP5	ORPHA:1855
HP:0001872	Abnormality of thrombocytes	6609	SMPD1	ORPHA:77293
HP:0001872	Abnormality of thrombocytes	84061	MAGT1	OMIM:300853
HP:0001872	Abnormality of thrombocytes	8651	SOCS1	OMIM:619375
HP:0001872	Abnormality of thrombocytes	1493	CTLA4	OMIM:616100
HP:0001872	Abnormality of thrombocytes	27040	LAT	OMIM:617514
HP:0001872	Abnormality of thrombocytes	100	ADA	OMIM:102700
HP:0001872	Abnormality of thrombocytes	2581	GALC	OMIM:245200
HP:0001872	Abnormality of thrombocytes	23495	TNFRSF13B	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	4790	NFKB1	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	115650	TNFRSF13C	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	1380	CR2	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	8742	TNFSF12	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	930	CD19	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	29851	ICOS	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	931	MS4A1	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	359948	IRF2BP2	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	9138	ARHGEF1	OMIM:618459
HP:0001872	Abnormality of thrombocytes	7535	ZAP70	ORPHA:911
HP:0001872	Abnormality of thrombocytes	8085	KMT2D	OMIM:147920
HP:0001872	Abnormality of thrombocytes	7403	KDM6A	OMIM:147920
HP:0001872	Abnormality of thrombocytes	4247	MGAT2	ORPHA:79329
HP:0001872	Abnormality of thrombocytes	7450	VWF	OMIM:193400
HP:0001872	Abnormality of thrombocytes	7450	VWF	OMIM:277480
HP:0001872	Abnormality of thrombocytes	388552	BLOC1S3	OMIM:614077
HP:0001872	Abnormality of thrombocytes	5321	PLA2G4A	OMIM:618372
HP:0001872	Abnormality of thrombocytes	3758	KCNJ1	OMIM:241200
HP:0001872	Abnormality of thrombocytes	84062	DTNBP1	OMIM:614076
HP:0001872	Abnormality of thrombocytes	10535	RNASEH2A	ORPHA:51
HP:0001872	Abnormality of thrombocytes	84153	RNASEH2C	ORPHA:51
HP:0001872	Abnormality of thrombocytes	25939	SAMHD1	ORPHA:51
HP:0001872	Abnormality of thrombocytes	79621	RNASEH2B	ORPHA:51
HP:0001872	Abnormality of thrombocytes	103	ADAR	ORPHA:51
HP:0001872	Abnormality of thrombocytes	11277	TREX1	ORPHA:51
HP:0001872	Abnormality of thrombocytes	100147744	RNU7-1	ORPHA:51
HP:0001872	Abnormality of thrombocytes	134353	LSM11	ORPHA:51
HP:0001872	Abnormality of thrombocytes	64135	IFIH1	ORPHA:51
HP:0001872	Abnormality of thrombocytes	3673	ITGA2	ORPHA:853
HP:0001872	Abnormality of thrombocytes	135228	CD109	ORPHA:853
HP:0001872	Abnormality of thrombocytes	92579	G6PC3	OMIM:612541
HP:0001872	Abnormality of thrombocytes	9948	WDR1	OMIM:150550
HP:0001872	Abnormality of thrombocytes	7037	TFRC	OMIM:616740
HP:0001872	Abnormality of thrombocytes	5604	MAP2K1	OMIM:163950
HP:0001872	Abnormality of thrombocytes	5781	PTPN11	OMIM:163950
HP:0001872	Abnormality of thrombocytes	673	BRAF	OMIM:163950
HP:0001872	Abnormality of thrombocytes	64805	P2RY12	OMIM:609821
HP:0001872	Abnormality of thrombocytes	2533	FYB1	OMIM:273900
HP:0001872	Abnormality of thrombocytes	7454	WAS	OMIM:301000
HP:0001872	Abnormality of thrombocytes	7454	WAS	OMIM:313900
HP:0001872	Abnormality of thrombocytes	10095	ARPC1B	OMIM:617718
HP:0001872	Abnormality of thrombocytes	10235	RASGRP2	OMIM:615888
HP:0001872	Abnormality of thrombocytes	51206	GP6	OMIM:614201
HP:0001872	Abnormality of thrombocytes	493856	CISD2	OMIM:604928
HP:0001872	Abnormality of thrombocytes	3937	LCP2	OMIM:619374
HP:0001872	Abnormality of thrombocytes	23218	NBEAL2	OMIM:139090
HP:0001872	Abnormality of thrombocytes	1130	LYST	ORPHA:167
HP:0001872	Abnormality of thrombocytes	22800	RRAS2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	867	CBL	ORPHA:648
HP:0001872	Abnormality of thrombocytes	8216	LZTR1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6016	RIT1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6237	RRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	5894	RAF1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	22808	MRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	200734	SPRED2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6654	SOS1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6655	SOS2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	5922	RASA2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	219285	SAMD9L	ORPHA:2585
HP:0001872	Abnormality of thrombocytes	2778	GNAS	ORPHA:79443
HP:0001872	Abnormality of thrombocytes	2038	EPB42	OMIM:612690
HP:0001872	Abnormality of thrombocytes	2048	EPHB2	OMIM:618462
HP:0001872	Abnormality of thrombocytes	5328	PLAU	OMIM:601709
HP:0001872	Abnormality of thrombocytes	7456	WIPF1	ORPHA:906
HP:0001872	Abnormality of thrombocytes	54205	CYCS	OMIM:612004
HP:0001872	Abnormality of thrombocytes	22852	ANKRD26	OMIM:188000
HP:0001872	Abnormality of thrombocytes	998	CDC42	ORPHA:487796
HP:0001872	Abnormality of thrombocytes	998	CDC42	OMIM:616737
HP:0001872	Abnormality of thrombocytes	2316	FLNA	OMIM:300048
HP:0001872	Abnormality of thrombocytes	2313	FLI1	OMIM:617443
HP:0001872	Abnormality of thrombocytes	6309	SC5D	OMIM:607330
HP:0001872	Abnormality of thrombocytes	79803	HPS6	OMIM:614075
HP:0001872	Abnormality of thrombocytes	6915	TBXA2R	OMIM:614009
HP:0001872	Abnormality of thrombocytes	3690	ITGB3	ORPHA:849
HP:0001872	Abnormality of thrombocytes	84343	HPS3	OMIM:614072
HP:0001872	Abnormality of thrombocytes	26258	BLOC1S6	OMIM:614171
HP:0001872	Abnormality of thrombocytes	2982	GUCY1A1	ORPHA:401945
HP:0001872	Abnormality of thrombocytes	87	ACTN1	OMIM:615193
HP:0001872	Abnormality of thrombocytes	89781	HPS4	OMIM:614073
HP:0001872	Abnormality of thrombocytes	11234	HPS5	OMIM:614074
HP:0001872	Abnormality of thrombocytes	8546	AP3B1	OMIM:608233
HP:0001872	Abnormality of thrombocytes	63915	BLOC1S5	OMIM:619172
HP:0001872	Abnormality of thrombocytes	64376	IKZF5	OMIM:619130
HP:0001872	Abnormality of thrombocytes	2815	GP9	OMIM:231200
HP:0001872	Abnormality of thrombocytes	2815	GP9	ORPHA:274
HP:0001872	Abnormality of thrombocytes	2811	GP1BA	OMIM:231200
HP:0001872	Abnormality of thrombocytes	2811	GP1BA	ORPHA:274
HP:0001872	Abnormality of thrombocytes	2812	GP1BB	OMIM:231200
HP:0001872	Abnormality of thrombocytes	2812	GP1BB	ORPHA:274
HP:0001872	Abnormality of thrombocytes	81027	TUBB1	OMIM:613112
HP:0001872	Abnormality of thrombocytes	3674	ITGA2B	OMIM:187800
HP:0001872	Abnormality of thrombocytes	10559	SLC35A1	OMIM:603585
HP:0001872	Abnormality of thrombocytes	1729	DIAPH1	OMIM:124900
HP:0001872	Abnormality of thrombocytes	4627	MYH9	OMIM:155100
HP:0001872	Abnormality of thrombocytes	51807	TUBA8	OMIM:619840
HP:0001872	Abnormality of thrombocytes	8328	GFI1B	OMIM:187900
HP:0001872	Abnormality of thrombocytes	5568	PRKACG	OMIM:616176
HP:0100501	Recurrent bronchiolitis	23149	FCHO1	OMIM:619164
HP:0100501	Recurrent bronchiolitis	1956	EGFR	OMIM:616069
HP:0100502	Vitamin B12 deficiency	8029	CUBN	ORPHA:35858
HP:0100502	Vitamin B12 deficiency	8029	CUBN	OMIM:261100
HP:0100502	Vitamin B12 deficiency	81693	AMN	ORPHA:35858
HP:0100502	Vitamin B12 deficiency	81693	AMN	OMIM:618882
HP:0100502	Vitamin B12 deficiency	2917	GRM7	OMIM:618922
HP:0100502	Vitamin B12 deficiency	55788	LMBRD1	ORPHA:79284
HP:0100502	Vitamin B12 deficiency	6573	SLC19A1	OMIM:601775
HP:0100502	Vitamin B12 deficiency	3117	HLA-DQA1	OMIM:212750
HP:0100502	Vitamin B12 deficiency	3119	HLA-DQB1	OMIM:212750
HP:0100502	Vitamin B12 deficiency	2984	GUCY2C	OMIM:614616
HP:0100502	Vitamin B12 deficiency	215	ABCD1	ORPHA:139399
HP:0100502	Vitamin B12 deficiency	2694	CBLIF	OMIM:261000
HP:0100503	Low levels of vitamin B1	6492	SIM1	ORPHA:369873
HP:0100503	Low levels of vitamin B1	1737	DLAT	ORPHA:79244
HP:0100504	Low levels of vitamin B2	55065	SLC52A1	OMIM:615026
HP:0100507	Reduced blood folate concentration	55593	OTUD5	OMIM:301056
HP:0100507	Reduced blood folate concentration	113235	SLC46A1	OMIM:229050
HP:0100507	Reduced blood folate concentration	3117	HLA-DQA1	OMIM:212750
HP:0100507	Reduced blood folate concentration	3119	HLA-DQB1	OMIM:212750
HP:0100507	Reduced blood folate concentration	374879	ZNF699	OMIM:619488
HP:0100508	Abnormality of vitamin metabolism	4552	MTRR	OMIM:236270
HP:0100508	Abnormality of vitamin metabolism	197322	ACSF3	ORPHA:289504
HP:0100508	Abnormality of vitamin metabolism	8802	SUCLG1	ORPHA:17
HP:0100508	Abnormality of vitamin metabolism	8803	SUCLA2	OMIM:612073
HP:0100508	Abnormality of vitamin metabolism	25974	MMACHC	ORPHA:79282
HP:0100508	Abnormality of vitamin metabolism	25974	MMACHC	OMIM:277400
HP:0100508	Abnormality of vitamin metabolism	3054	HCFC1	OMIM:309541
HP:0100508	Abnormality of vitamin metabolism	4329	ALDH6A1	OMIM:614105
HP:0100508	Abnormality of vitamin metabolism	51293	CD320	OMIM:613646
HP:0100508	Abnormality of vitamin metabolism	5826	ABCD4	OMIM:614857
HP:0100508	Abnormality of vitamin metabolism	4548	MTR	OMIM:250940
HP:0100508	Abnormality of vitamin metabolism	27249	MMADHC	OMIM:277410
HP:0100508	Abnormality of vitamin metabolism	326625	MMAB	OMIM:251110
HP:0100508	Abnormality of vitamin metabolism	4594	MMUT	OMIM:251000
HP:0100508	Abnormality of vitamin metabolism	5052	PRDX1	OMIM:277400
HP:0100508	Abnormality of vitamin metabolism	166785	MMAA	OMIM:251100
HP:0100508	Abnormality of vitamin metabolism	4522	MTHFD1	OMIM:617780
HP:0100508	Abnormality of vitamin metabolism	595	CCND1	ORPHA:29073
HP:0100508	Abnormality of vitamin metabolism	53630	BCO1	OMIM:115300
HP:0100508	Abnormality of vitamin metabolism	7276	TTR	OMIM:115430
HP:0100508	Abnormality of vitamin metabolism	8659	ALDH4A1	ORPHA:79101
HP:0100508	Abnormality of vitamin metabolism	1581	CYP7A1	ORPHA:209902
HP:0100508	Abnormality of vitamin metabolism	9414	TJP2	OMIM:607748
HP:0100508	Abnormality of vitamin metabolism	4041	LRP5	ORPHA:2788
HP:0100508	Abnormality of vitamin metabolism	1576	CYP3A4	OMIM:619073
HP:0100508	Abnormality of vitamin metabolism	1594	CYP27B1	OMIM:264700
HP:0100508	Abnormality of vitamin metabolism	1594	CYP27B1	ORPHA:289157
HP:0100508	Abnormality of vitamin metabolism	1758	DMP1	ORPHA:289176
HP:0100508	Abnormality of vitamin metabolism	5167	ENPP1	ORPHA:289176
HP:0100508	Abnormality of vitamin metabolism	120227	CYP2R1	ORPHA:289157
HP:0100508	Abnormality of vitamin metabolism	23600	AMACR	OMIM:214950
HP:0100508	Abnormality of vitamin metabolism	50640	PNPLA8	OMIM:251950
HP:0100508	Abnormality of vitamin metabolism	1719	DHFR	OMIM:613839
HP:0100508	Abnormality of vitamin metabolism	6711	SPTBN1	OMIM:619475
HP:0100508	Abnormality of vitamin metabolism	142680	SLC34A3	OMIM:241530
HP:0100508	Abnormality of vitamin metabolism	7421	VDR	OMIM:277440
HP:0100508	Abnormality of vitamin metabolism	6569	SLC34A1	OMIM:613388
HP:0100508	Abnormality of vitamin metabolism	6569	SLC34A1	ORPHA:157215
HP:0100508	Abnormality of vitamin metabolism	2591	GALNT3	OMIM:211900
HP:0100508	Abnormality of vitamin metabolism	1184	CLCN5	OMIM:300554
HP:0100508	Abnormality of vitamin metabolism	1184	CLCN5	OMIM:300009
HP:0100508	Abnormality of vitamin metabolism	9365	KL	OMIM:617994
HP:0100508	Abnormality of vitamin metabolism	10841	FTCD	ORPHA:51208
HP:0100508	Abnormality of vitamin metabolism	355	FAS	ORPHA:3261
HP:0100508	Abnormality of vitamin metabolism	356	FASLG	ORPHA:3261
HP:0100508	Abnormality of vitamin metabolism	5580	PRKCD	ORPHA:3261
HP:0100508	Abnormality of vitamin metabolism	843	CASP10	ORPHA:3261
HP:0100508	Abnormality of vitamin metabolism	10125	RASGRP1	ORPHA:3261
HP:0100508	Abnormality of vitamin metabolism	6948	TCN2	OMIM:275350
HP:0100508	Abnormality of vitamin metabolism	11342	RNF13	ORPHA:544503
HP:0100508	Abnormality of vitamin metabolism	2917	GRM7	OMIM:618922
HP:0100508	Abnormality of vitamin metabolism	55788	LMBRD1	ORPHA:79284
HP:0100508	Abnormality of vitamin metabolism	6573	SLC19A1	OMIM:601775
HP:0100508	Abnormality of vitamin metabolism	3117	HLA-DQA1	OMIM:212750
HP:0100508	Abnormality of vitamin metabolism	3119	HLA-DQB1	OMIM:212750
HP:0100508	Abnormality of vitamin metabolism	2984	GUCY2C	OMIM:614616
HP:0100508	Abnormality of vitamin metabolism	215	ABCD1	ORPHA:139399
HP:0100508	Abnormality of vitamin metabolism	6492	SIM1	ORPHA:369873
HP:0100508	Abnormality of vitamin metabolism	1737	DLAT	ORPHA:79244
HP:0100508	Abnormality of vitamin metabolism	55065	SLC52A1	OMIM:615026
HP:0100508	Abnormality of vitamin metabolism	55593	OTUD5	OMIM:301056
HP:0100508	Abnormality of vitamin metabolism	113235	SLC46A1	OMIM:229050
HP:0100508	Abnormality of vitamin metabolism	374879	ZNF699	OMIM:619488
HP:0100508	Abnormality of vitamin metabolism	4312	MMP1	ORPHA:79408
HP:0100508	Abnormality of vitamin metabolism	1294	COL7A1	ORPHA:79408
HP:0100508	Abnormality of vitamin metabolism	51128	SAR1B	ORPHA:71
HP:0100508	Abnormality of vitamin metabolism	9420	CYP7B1	ORPHA:79302
HP:0100508	Abnormality of vitamin metabolism	3376	IARS1	ORPHA:541423
HP:0100508	Abnormality of vitamin metabolism	2592	GALT	ORPHA:79239
HP:0100508	Abnormality of vitamin metabolism	6554	SLC10A1	OMIM:619256
HP:0100508	Abnormality of vitamin metabolism	8074	FGF23	ORPHA:89937
HP:0100508	Abnormality of vitamin metabolism	2590	GALNT2	OMIM:618885
HP:0100508	Abnormality of vitamin metabolism	2859	GPR35	ORPHA:171
HP:0100508	Abnormality of vitamin metabolism	10507	SEMA4D	ORPHA:171
HP:0100508	Abnormality of vitamin metabolism	4485	MST1	ORPHA:171
HP:0100508	Abnormality of vitamin metabolism	6925	TCF4	ORPHA:171
HP:0100508	Abnormality of vitamin metabolism	134218	DNAJC21	OMIM:617052
HP:0100508	Abnormality of vitamin metabolism	134218	DNAJC21	ORPHA:811
HP:0100508	Abnormality of vitamin metabolism	54914	FOCAD	OMIM:619991
HP:0100508	Abnormality of vitamin metabolism	6135	RPL11	OMIM:612562
HP:0100508	Abnormality of vitamin metabolism	2006	ELN	ORPHA:90348
HP:0100508	Abnormality of vitamin metabolism	10516	FBLN5	ORPHA:90348
HP:0100508	Abnormality of vitamin metabolism	5832	ALDH18A1	ORPHA:90348
HP:0100508	Abnormality of vitamin metabolism	10056	FARSB	OMIM:613658
HP:0100508	Abnormality of vitamin metabolism	5745	PTH1R	OMIM:600002
HP:0100508	Abnormality of vitamin metabolism	4547	MTTP	ORPHA:14
HP:0100508	Abnormality of vitamin metabolism	123264	SLC51B	OMIM:619481
HP:0100508	Abnormality of vitamin metabolism	8309	ACOX2	OMIM:617308
HP:0100508	Abnormality of vitamin metabolism	1497	CTNS	ORPHA:411634
HP:0100508	Abnormality of vitamin metabolism	7390	UROS	ORPHA:79277
HP:0100508	Abnormality of vitamin metabolism	2623	GATA1	ORPHA:79277
HP:0100508	Abnormality of vitamin metabolism	6204	RPS10	OMIM:613308
HP:0100508	Abnormality of vitamin metabolism	4952	OCRL	ORPHA:534
HP:0100508	Abnormality of vitamin metabolism	199221	DZIP1L	ORPHA:731
HP:0100508	Abnormality of vitamin metabolism	5314	PKHD1	ORPHA:731
HP:0100508	Abnormality of vitamin metabolism	79631	EFL1	ORPHA:811
HP:0100508	Abnormality of vitamin metabolism	51119	SBDS	ORPHA:811
HP:0100508	Abnormality of vitamin metabolism	6729	SRP54	ORPHA:811
HP:0100508	Abnormality of vitamin metabolism	2542	SLC37A4	ORPHA:79259
HP:0100508	Abnormality of vitamin metabolism	55532	SLC30A10	ORPHA:309854
HP:0100508	Abnormality of vitamin metabolism	57704	GBA2	ORPHA:352641
HP:0100508	Abnormality of vitamin metabolism	338	APOB	OMIM:615558
HP:0100508	Abnormality of vitamin metabolism	7274	TTPA	OMIM:277460
HP:0100508	Abnormality of vitamin metabolism	6718	AKR1D1	ORPHA:79303
HP:0100508	Abnormality of vitamin metabolism	8029	CUBN	ORPHA:35858
HP:0100508	Abnormality of vitamin metabolism	8029	CUBN	OMIM:261100
HP:0100508	Abnormality of vitamin metabolism	81693	AMN	ORPHA:35858
HP:0100508	Abnormality of vitamin metabolism	2694	CBLIF	OMIM:261000
HP:0005557	Abnormal zygomatic arch morphology	117581	TWIST2	OMIM:200110
HP:0005557	Abnormal zygomatic arch morphology	25885	POLR1A	OMIM:616462
HP:0005556	Abnormality of the metopic suture	3192	HNRNPU	ORPHA:238769
HP:0005556	Abnormality of the metopic suture	158	ADSL	OMIM:103050
HP:0005556	Abnormality of the metopic suture	158	ADSL	ORPHA:46
HP:0005556	Abnormality of the metopic suture	5518	PPP2R1A	OMIM:616362
HP:0005556	Abnormality of the metopic suture	5518	PPP2R1A	ORPHA:457284
HP:0005556	Abnormality of the metopic suture	6309	SC5D	ORPHA:46059
HP:0005556	Abnormality of the metopic suture	104	ADARB1	OMIM:618862
HP:0005556	Abnormality of the metopic suture	2290	FOXG1	ORPHA:261144
HP:0005556	Abnormality of the metopic suture	1182	CLCN3	OMIM:619512
HP:0005556	Abnormality of the metopic suture	3590	IL11RA	OMIM:614188
HP:0005556	Abnormality of the metopic suture	56006	SMG9	OMIM:616920
HP:0005556	Abnormality of the metopic suture	10765	KDM5B	OMIM:618109
HP:0005556	Abnormality of the metopic suture	100151683	RNU4ATAC	OMIM:210710
HP:0005556	Abnormality of the metopic suture	25914	RTTN	ORPHA:468631
HP:0005556	Abnormality of the metopic suture	84570	COL25A1	ORPHA:91411
HP:0005556	Abnormality of the metopic suture	79776	ZFHX4	ORPHA:91411
HP:0005556	Abnormality of the metopic suture	3190	HNRNPK	ORPHA:453504
HP:0005556	Abnormality of the metopic suture	3190	HNRNPK	OMIM:616580
HP:0005556	Abnormality of the metopic suture	3190	HNRNPK	ORPHA:352665
HP:0005556	Abnormality of the metopic suture	79796	ALG9	ORPHA:79328
HP:0005556	Abnormality of the metopic suture	10847	SRCAP	OMIM:136140
HP:0005556	Abnormality of the metopic suture	4094	MAF	ORPHA:1272
HP:0005556	Abnormality of the metopic suture	3021	H3-3B	OMIM:619721
HP:0005556	Abnormality of the metopic suture	5594	MAPK1	OMIM:619087
HP:0005556	Abnormality of the metopic suture	23030	KDM4B	OMIM:619320
HP:0005556	Abnormality of the metopic suture	4010	LMX1B	ORPHA:495818
HP:0005556	Abnormality of the metopic suture	6812	STXBP1	ORPHA:495818
HP:0005556	Abnormality of the metopic suture	7291	TWIST1	OMIM:617746
HP:0005556	Abnormality of the metopic suture	55780	ERMARD	ORPHA:75857
HP:0005556	Abnormality of the metopic suture	471	ATIC	OMIM:608688
HP:0005556	Abnormality of the metopic suture	3767	KCNJ11	ORPHA:79134
HP:0005556	Abnormality of the metopic suture	3767	KCNJ11	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	3767	KCNJ11	OMIM:618856
HP:0005556	Abnormality of the metopic suture	79731	NARS2	ORPHA:79134
HP:0005556	Abnormality of the metopic suture	6833	ABCC8	ORPHA:79134
HP:0005556	Abnormality of the metopic suture	6833	ABCC8	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	6774	STAT3	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	2645	GCK	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	3651	PDX1	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	3630	INS	ORPHA:99885
HP:0005556	Abnormality of the metopic suture	4131	MAP1B	OMIM:618918
HP:0005556	Abnormality of the metopic suture	79158	GNPTAB	ORPHA:576
HP:0005556	Abnormality of the metopic suture	1028	CDKN1C	OMIM:130650
HP:0005556	Abnormality of the metopic suture	10984	KCNQ1OT1	OMIM:130650
HP:0005556	Abnormality of the metopic suture	3481	IGF2	OMIM:130650
HP:0005556	Abnormality of the metopic suture	3784	KCNQ1	OMIM:130650
HP:0005556	Abnormality of the metopic suture	8260	NAA10	OMIM:300855
HP:0005556	Abnormality of the metopic suture	2068	ERCC2	ORPHA:1466
HP:0005556	Abnormality of the metopic suture	2067	ERCC1	ORPHA:1466
HP:0005556	Abnormality of the metopic suture	2074	ERCC6	ORPHA:1466
HP:0005556	Abnormality of the metopic suture	2073	ERCC5	ORPHA:1466
HP:0005556	Abnormality of the metopic suture	23511	NUP188	OMIM:618804
HP:0005556	Abnormality of the metopic suture	284058	KANSL1	OMIM:610443
HP:0005556	Abnormality of the metopic suture	84081	NSRP1	OMIM:620001
HP:0005556	Abnormality of the metopic suture	71	ACTG1	ORPHA:2995
HP:0005556	Abnormality of the metopic suture	60	ACTB	ORPHA:2995
HP:0005556	Abnormality of the metopic suture	23116	TOGARAM1	OMIM:619185
HP:0005556	Abnormality of the metopic suture	171023	ASXL1	ORPHA:97297
HP:0005556	Abnormality of the metopic suture	171023	ASXL1	OMIM:605039
HP:0005556	Abnormality of the metopic suture	9742	IFT140	OMIM:266920
HP:0005556	Abnormality of the metopic suture	23036	ZNF292	OMIM:619188
HP:0005556	Abnormality of the metopic suture	2702	GJA5	OMIM:612474
HP:0005556	Abnormality of the metopic suture	2703	GJA8	OMIM:612474
HP:0005556	Abnormality of the metopic suture	92949	ADAMTSL1	ORPHA:521445
HP:0005556	Abnormality of the metopic suture	4854	NOTCH3	ORPHA:2789
HP:0005556	Abnormality of the metopic suture	4281	MID1	ORPHA:2745
HP:0005556	Abnormality of the metopic suture	93627	TBCK	ORPHA:488632
HP:0005556	Abnormality of the metopic suture	6602	SMARCD1	OMIM:618779
HP:0005556	Abnormality of the metopic suture	27152	INTU	OMIM:617926
HP:0005556	Abnormality of the metopic suture	58499	ZNF462	OMIM:618619
HP:0005556	Abnormality of the metopic suture	990	CDC6	OMIM:613805
HP:0005556	Abnormality of the metopic suture	5813	PURA	ORPHA:314655
HP:0005556	Abnormality of the metopic suture	26040	SETBP1	OMIM:269150
HP:0005556	Abnormality of the metopic suture	2263	FGFR2	ORPHA:313855
HP:0005556	Abnormality of the metopic suture	4488	MSX2	OMIM:604757
HP:0005556	Abnormality of the metopic suture	2077	ERF	OMIM:600775
HP:0005556	Abnormality of the metopic suture	8925	HERC1	ORPHA:457359
HP:0005556	Abnormality of the metopic suture	51604	PIGT	OMIM:615398
HP:0005556	Abnormality of the metopic suture	6651	SON	ORPHA:500150
HP:0005556	Abnormality of the metopic suture	158326	FREM1	OMIM:614485
HP:0005556	Abnormality of the metopic suture	2737	GLI3	OMIM:175700
HP:0005556	Abnormality of the metopic suture	1024	CDK8	OMIM:618748
HP:0005556	Abnormality of the metopic suture	57539	WDR35	OMIM:613610
HP:0005556	Abnormality of the metopic suture	2260	FGFR1	OMIM:190440
HP:0005556	Abnormality of the metopic suture	51259	TMEM216	OMIM:608091
HP:0005556	Abnormality of the metopic suture	4774	NFIA	OMIM:613735
HP:0005556	Abnormality of the metopic suture	8496	PPFIBP1	OMIM:620024
HP:0005556	Abnormality of the metopic suture	55593	OTUD5	OMIM:301056
HP:0005556	Abnormality of the metopic suture	5727	PTCH1	ORPHA:77301
HP:0005556	Abnormality of the metopic suture	80816	ASXL3	OMIM:615485
HP:0005556	Abnormality of the metopic suture	5277	PIGA	OMIM:300868
HP:0005556	Abnormality of the metopic suture	56098	PCDHGC4	OMIM:619880
HP:0005556	Abnormality of the metopic suture	10736	SIX2	ORPHA:488437
HP:0005556	Abnormality of the metopic suture	1642	DDB1	OMIM:619426
HP:0005556	Abnormality of the metopic suture	2719	GPC3	OMIM:312870
HP:0005556	Abnormality of the metopic suture	2239	GPC4	OMIM:312870
HP:0005559	Abnormality of the kinin-kallikrein system	3827	KNG1	OMIM:228960
HP:0005558	Chronic leukemia	4352	MPL	ORPHA:71493
HP:0005558	Chronic leukemia	7066	THPO	ORPHA:71493
HP:0005558	Chronic leukemia	3717	JAK2	ORPHA:71493
HP:0005558	Chronic leukemia	25	ABL1	OMIM:608232
HP:0005558	Chronic leukemia	613	BCR	OMIM:608232
HP:0005558	Chronic leukemia	5295	PIK3R1	OMIM:616005
HP:0005558	Chronic leukemia	171023	ASXL1	ORPHA:98849
HP:0005558	Chronic leukemia	54790	TET2	ORPHA:98849
HP:0005558	Chronic leukemia	3815	KIT	ORPHA:98849
HP:0005558	Chronic leukemia	6427	SRSF2	ORPHA:98849
HP:0005558	Chronic leukemia	4210	MEFV	ORPHA:3243
HP:0005558	Chronic leukemia	10535	RNASEH2A	ORPHA:51
HP:0005558	Chronic leukemia	84153	RNASEH2C	ORPHA:51
HP:0005558	Chronic leukemia	25939	SAMHD1	ORPHA:51
HP:0005558	Chronic leukemia	79621	RNASEH2B	ORPHA:51
HP:0005558	Chronic leukemia	103	ADAR	ORPHA:51
HP:0005558	Chronic leukemia	11277	TREX1	ORPHA:51
HP:0005558	Chronic leukemia	100147744	RNU7-1	ORPHA:51
HP:0005558	Chronic leukemia	134353	LSM11	ORPHA:51
HP:0005558	Chronic leukemia	64135	IFIH1	ORPHA:51
HP:0005558	Chronic leukemia	7454	WAS	ORPHA:906
HP:0005558	Chronic leukemia	7456	WIPF1	ORPHA:906
HP:0031405	Poroma	80326	WNT10A	OMIM:224750
HP:0031408	Increased proportion of CD25+ mast cells	1130	LYST	ORPHA:167
HP:0031408	Increased proportion of CD25+ mast cells	171023	ASXL1	ORPHA:98850
HP:0031408	Increased proportion of CD25+ mast cells	54790	TET2	ORPHA:98850
HP:0031408	Increased proportion of CD25+ mast cells	867	CBL	ORPHA:98850
HP:0031408	Increased proportion of CD25+ mast cells	861	RUNX1	ORPHA:98850
HP:0031408	Increased proportion of CD25+ mast cells	6427	SRSF2	ORPHA:98850
HP:0031409	Abnormal lymphocyte physiology	83737	ITCH	OMIM:613385
HP:0031409	Abnormal lymphocyte physiology	3117	HLA-DQA1	OMIM:212750
HP:0031409	Abnormal lymphocyte physiology	3119	HLA-DQB1	OMIM:212750
HP:0031409	Abnormal lymphocyte physiology	2475	MTOR	ORPHA:457485
HP:0031409	Abnormal lymphocyte physiology	2475	MTOR	OMIM:616638
HP:0031409	Abnormal lymphocyte physiology	284119	CAVIN1	OMIM:613327
HP:0031409	Abnormal lymphocyte physiology	51604	PIGT	ORPHA:369837
HP:0031409	Abnormal lymphocyte physiology	5336	PLCG2	OMIM:614878
HP:0031409	Abnormal lymphocyte physiology	28956	LAMTOR2	OMIM:610798
HP:0031409	Abnormal lymphocyte physiology	23387	SIK3	OMIM:618162
HP:0031409	Abnormal lymphocyte physiology	5426	POLE	OMIM:615139
HP:0031409	Abnormal lymphocyte physiology	4683	NBN	OMIM:251260
HP:0031409	Abnormal lymphocyte physiology	5873	RAB27A	OMIM:607624
HP:0031409	Abnormal lymphocyte physiology	6499	SKIC2	ORPHA:84064
HP:0031409	Abnormal lymphocyte physiology	833	CARS1	ORPHA:33364
HP:0031409	Abnormal lymphocyte physiology	136647	MPLKIP	ORPHA:33364
HP:0031409	Abnormal lymphocyte physiology	6897	TARS1	ORPHA:33364
HP:0031409	Abnormal lymphocyte physiology	2071	ERCC3	ORPHA:33364
HP:0031409	Abnormal lymphocyte physiology	2961	GTF2E2	ORPHA:33364
HP:0031409	Abnormal lymphocyte physiology	64170	CARD9	OMIM:212050
HP:0031409	Abnormal lymphocyte physiology	7454	WAS	OMIM:301000
HP:0031409	Abnormal lymphocyte physiology	7454	WAS	OMIM:313900
HP:0031409	Abnormal lymphocyte physiology	1041	CDSN	ORPHA:90368
HP:0031409	Abnormal lymphocyte physiology	1041	CDSN	OMIM:270300
HP:0031409	Abnormal lymphocyte physiology	121391	KRT74	ORPHA:90368
HP:0031409	Abnormal lymphocyte physiology	6777	STAT5B	OMIM:618985
HP:0031409	Abnormal lymphocyte physiology	50943	FOXP3	OMIM:304790
HP:0031409	Abnormal lymphocyte physiology	50943	FOXP3	ORPHA:37042
HP:0031409	Abnormal lymphocyte physiology	3857	KRT9	OMIM:144200
HP:0031409	Abnormal lymphocyte physiology	6774	STAT3	OMIM:147060
HP:0031409	Abnormal lymphocyte physiology	6774	STAT3	ORPHA:2314
HP:0031409	Abnormal lymphocyte physiology	1294	COL7A1	ORPHA:89843
HP:0031409	Abnormal lymphocyte physiology	7297	TYK2	OMIM:611521
HP:0031409	Abnormal lymphocyte physiology	51135	IRAK4	OMIM:607676
HP:0031409	Abnormal lymphocyte physiology	84905	ZNF341	OMIM:618282
HP:0031409	Abnormal lymphocyte physiology	2239	GPC4	ORPHA:373
HP:0031409	Abnormal lymphocyte physiology	2719	GPC3	ORPHA:373
HP:0031409	Abnormal lymphocyte physiology	7941	PLA2G7	OMIM:147050
HP:0031409	Abnormal lymphocyte physiology	50615	IL21R	OMIM:147050
HP:0031409	Abnormal lymphocyte physiology	3566	IL4R	OMIM:147050
HP:0031409	Abnormal lymphocyte physiology	2206	MS4A2	OMIM:147050
HP:0031409	Abnormal lymphocyte physiology	1956	EGFR	OMIM:616069
HP:0031409	Abnormal lymphocyte physiology	84433	CARD11	OMIM:617638
HP:0031409	Abnormal lymphocyte physiology	6868	ADAM17	OMIM:614328
HP:0031409	Abnormal lymphocyte physiology	56160	NSMCE3	OMIM:617241
HP:0031409	Abnormal lymphocyte physiology	1828	DSG1	OMIM:615508
HP:0031409	Abnormal lymphocyte physiology	3559	IL2RA	OMIM:606367
HP:0031409	Abnormal lymphocyte physiology	3071	NCKAP1L	OMIM:618982
HP:0031409	Abnormal lymphocyte physiology	595	CCND1	ORPHA:29073
HP:0031409	Abnormal lymphocyte physiology	29775	CARD10	OMIM:619632
HP:0031409	Abnormal lymphocyte physiology	51371	POMP	OMIM:618048
HP:0031409	Abnormal lymphocyte physiology	10526	IPO8	OMIM:619472
HP:0031409	Abnormal lymphocyte physiology	5238	PGM3	ORPHA:443811
HP:0031409	Abnormal lymphocyte physiology	5238	PGM3	OMIM:615816
HP:0031409	Abnormal lymphocyte physiology	340061	STING1	OMIM:615934
HP:0031409	Abnormal lymphocyte physiology	3575	IL7R	ORPHA:169154
HP:0031409	Abnormal lymphocyte physiology	81704	DOCK8	OMIM:243700
HP:0031409	Abnormal lymphocyte physiology	7174	TPP2	OMIM:619220
HP:0031409	Abnormal lymphocyte physiology	22861	NLRP1	OMIM:617388
HP:0031409	Abnormal lymphocyte physiology	3560	IL2RB	OMIM:618495
HP:0031409	Abnormal lymphocyte physiology	3459	IFNGR1	OMIM:209950
HP:0031409	Abnormal lymphocyte physiology	5696	PSMB8	OMIM:256040
HP:0031409	Abnormal lymphocyte physiology	404672	GTF2H5	OMIM:616395
HP:0031409	Abnormal lymphocyte physiology	2859	GPR35	ORPHA:171
HP:0031409	Abnormal lymphocyte physiology	10507	SEMA4D	ORPHA:171
HP:0031409	Abnormal lymphocyte physiology	4485	MST1	ORPHA:171
HP:0031409	Abnormal lymphocyte physiology	6925	TCF4	ORPHA:171
HP:0031409	Abnormal lymphocyte physiology	200942	KLHDC8B	OMIM:236000
HP:0031409	Abnormal lymphocyte physiology	90268	OTULIN	OMIM:617099
HP:0031409	Abnormal lymphocyte physiology	3594	IL12RB1	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	23534	TNPO3	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	3592	IL12A	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	6689	SPIB	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	5450	POU2AF1	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	9966	TNFSF15	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	79258	MMEL1	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	3663	IRF5	ORPHA:186
HP:0031409	Abnormal lymphocyte physiology	10159	ATP6AP2	OMIM:301045
HP:0031409	Abnormal lymphocyte physiology	83483	PLVAP	OMIM:618183
HP:0031409	Abnormal lymphocyte physiology	51750	RTEL1	OMIM:615190
HP:0031409	Abnormal lymphocyte physiology	3551	IKBKB	OMIM:615592
HP:0031409	Abnormal lymphocyte physiology	5728	PTEN	OMIM:605309
HP:0031409	Abnormal lymphocyte physiology	5728	PTEN	OMIM:158350
HP:0031409	Abnormal lymphocyte physiology	8737	RIPK1	OMIM:618108
HP:0031409	Abnormal lymphocyte physiology	113235	SLC46A1	ORPHA:90045
HP:0031409	Abnormal lymphocyte physiology	2316	FLNA	ORPHA:99811
HP:0031409	Abnormal lymphocyte physiology	4522	MTHFD1	OMIM:617780
HP:0031409	Abnormal lymphocyte physiology	939	CD27	OMIM:615122
HP:0031409	Abnormal lymphocyte physiology	10525	HYOU1	OMIM:233600
HP:0031409	Abnormal lymphocyte physiology	4790	NFKB1	OMIM:616576
HP:0031409	Abnormal lymphocyte physiology	4790	NFKB1	ORPHA:1572
HP:0031409	Abnormal lymphocyte physiology	114803	MYSM1	OMIM:618116
HP:0031409	Abnormal lymphocyte physiology	79840	NHEJ1	ORPHA:169079
HP:0031409	Abnormal lymphocyte physiology	6023	RMRP	ORPHA:175
HP:0031409	Abnormal lymphocyte physiology	7037	TFRC	OMIM:616740
HP:0031409	Abnormal lymphocyte physiology	4125	MAN2B1	OMIM:248500
HP:0031409	Abnormal lymphocyte physiology	10111	RAD50	OMIM:613078
HP:0031409	Abnormal lymphocyte physiology	9839	ZEB2	ORPHA:261552
HP:0031409	Abnormal lymphocyte physiology	9839	ZEB2	ORPHA:261537
HP:0031409	Abnormal lymphocyte physiology	4478	MSN	OMIM:300988
HP:0031409	Abnormal lymphocyte physiology	3070	HELLS	ORPHA:2268
HP:0031409	Abnormal lymphocyte physiology	3070	HELLS	OMIM:616911
HP:0031409	Abnormal lymphocyte physiology	1789	DNMT3B	ORPHA:2268
HP:0031409	Abnormal lymphocyte physiology	83879	CDCA7	ORPHA:2268
HP:0031409	Abnormal lymphocyte physiology	83879	CDCA7	OMIM:616910
HP:0031409	Abnormal lymphocyte physiology	10320	IKZF1	OMIM:616873
HP:0031409	Abnormal lymphocyte physiology	8742	TNFSF12	ORPHA:1572
HP:0031409	Abnormal lymphocyte physiology	970	CD70	OMIM:618261
HP:0031409	Abnormal lymphocyte physiology	57217	TTC7A	OMIM:243150
HP:0031409	Abnormal lymphocyte physiology	51095	TRNT1	OMIM:616084
HP:0031409	Abnormal lymphocyte physiology	9508	ADAMTS3	ORPHA:2136
HP:0031409	Abnormal lymphocyte physiology	147372	CCBE1	ORPHA:2136
HP:0031409	Abnormal lymphocyte physiology	79633	FAT4	ORPHA:2136
HP:0031409	Abnormal lymphocyte physiology	3507	IGHM	OMIM:601495
HP:0031409	Abnormal lymphocyte physiology	493856	CISD2	OMIM:604928
HP:0031409	Abnormal lymphocyte physiology	8915	BCL10	OMIM:616098
HP:0031409	Abnormal lymphocyte physiology	4780	NFE2L2	OMIM:617744
HP:0031409	Abnormal lymphocyte physiology	51816	ADA2	OMIM:615688
HP:0031409	Abnormal lymphocyte physiology	6117	RPA1	OMIM:619767
HP:0031409	Abnormal lymphocyte physiology	10165	SLC25A13	ORPHA:247598
HP:0031409	Abnormal lymphocyte physiology	4938	OAS1	OMIM:618042
HP:0031409	Abnormal lymphocyte physiology	7157	TP53	OMIM:618165
HP:0031409	Abnormal lymphocyte physiology	9652	SKIC3	OMIM:222470
HP:0031409	Abnormal lymphocyte physiology	27040	LAT	OMIM:617514
HP:0031409	Abnormal lymphocyte physiology	9939	RBM8A	OMIM:274000
HP:0031409	Abnormal lymphocyte physiology	1604	CD55	OMIM:226300
HP:0031409	Abnormal lymphocyte physiology	3852	KRT5	ORPHA:79396
HP:0031409	Abnormal lymphocyte physiology	3861	KRT14	ORPHA:79396
HP:0031409	Abnormal lymphocyte physiology	219285	SAMD9L	ORPHA:2585
HP:0031409	Abnormal lymphocyte physiology	2137	EXTL3	ORPHA:508533
HP:0031409	Abnormal lymphocyte physiology	3561	IL2RG	ORPHA:276
HP:0031409	Abnormal lymphocyte physiology	3561	IL2RG	OMIM:312863
HP:0031409	Abnormal lymphocyte physiology	3561	IL2RG	OMIM:300400
HP:0031409	Abnormal lymphocyte physiology	355	FAS	ORPHA:3261
HP:0031409	Abnormal lymphocyte physiology	356	FASLG	ORPHA:3261
HP:0031409	Abnormal lymphocyte physiology	5580	PRKCD	ORPHA:3261
HP:0031409	Abnormal lymphocyte physiology	843	CASP10	ORPHA:3261
HP:0031409	Abnormal lymphocyte physiology	10125	RASGRP1	ORPHA:3261
HP:0031409	Abnormal lymphocyte physiology	10125	RASGRP1	OMIM:618534
HP:0031409	Abnormal lymphocyte physiology	64421	DCLRE1C	ORPHA:275
HP:0031409	Abnormal lymphocyte physiology	695	BTK	OMIM:300755
HP:0031409	Abnormal lymphocyte physiology	10043	TOM1	OMIM:619510
HP:0031409	Abnormal lymphocyte physiology	3572	IL6ST	OMIM:619752
HP:0031409	Abnormal lymphocyte physiology	3702	ITK	OMIM:613011
HP:0031409	Abnormal lymphocyte physiology	115650	TNFRSF13C	OMIM:613494
HP:0031409	Abnormal lymphocyte physiology	115650	TNFRSF13C	OMIM:240500
HP:0031409	Abnormal lymphocyte physiology	5295	PIK3R1	OMIM:616005
HP:0031409	Abnormal lymphocyte physiology	9841	ZBTB24	OMIM:614069
HP:0031409	Abnormal lymphocyte physiology	5880	RAC2	OMIM:618986
HP:0031409	Abnormal lymphocyte physiology	5880	RAC2	OMIM:618987
HP:0031409	Abnormal lymphocyte physiology	3932	LCK	OMIM:615758
HP:0031409	Abnormal lymphocyte physiology	6948	TCN2	OMIM:275350
HP:0031409	Abnormal lymphocyte physiology	6948	TCN2	ORPHA:859
HP:0031409	Abnormal lymphocyte physiology	3570	IL6R	OMIM:618944
HP:0031409	Abnormal lymphocyte physiology	987	LRBA	OMIM:614700
HP:0031409	Abnormal lymphocyte physiology	8517	IKBKG	OMIM:301081
HP:0031409	Abnormal lymphocyte physiology	54440	SASH3	OMIM:301082
HP:0031409	Abnormal lymphocyte physiology	959	CD40LG	OMIM:308230
HP:0031409	Abnormal lymphocyte physiology	4796	TONSL	OMIM:271510
HP:0031409	Abnormal lymphocyte physiology	4247	MGAT2	ORPHA:79329
HP:0031409	Abnormal lymphocyte physiology	7555	CNBP	OMIM:602668
HP:0031409	Abnormal lymphocyte physiology	1457	CSNK2A1	OMIM:617062
HP:0031409	Abnormal lymphocyte physiology	57379	AICDA	OMIM:605258
HP:0031409	Abnormal lymphocyte physiology	374354	NHLRC2	OMIM:618278
HP:0031409	Abnormal lymphocyte physiology	60468	BACH2	OMIM:618394
HP:0031409	Abnormal lymphocyte physiology	974	CD79B	OMIM:612692
HP:0031409	Abnormal lymphocyte physiology	5788	PTPRC	OMIM:619924
HP:0031409	Abnormal lymphocyte physiology	11005	SPINK5	OMIM:256500
HP:0031409	Abnormal lymphocyte physiology	641	BLM	OMIM:210900
HP:0031409	Abnormal lymphocyte physiology	641	BLM	ORPHA:125
HP:0031409	Abnormal lymphocyte physiology	841	CASP8	OMIM:607271
HP:0031409	Abnormal lymphocyte physiology	472	ATM	OMIM:208900
HP:0031409	Abnormal lymphocyte physiology	59067	IL21	OMIM:615767
HP:0031409	Abnormal lymphocyte physiology	29760	BLNK	OMIM:613502
HP:0031409	Abnormal lymphocyte physiology	5294	PIK3CG	OMIM:619802
HP:0031409	Abnormal lymphocyte physiology	7841	MOGS	ORPHA:79330
HP:0031409	Abnormal lymphocyte physiology	331	XIAP	OMIM:308240
HP:0031409	Abnormal lymphocyte physiology	4068	SH2D1A	OMIM:308240
HP:0031409	Abnormal lymphocyte physiology	29851	ICOS	OMIM:607594
HP:0031409	Abnormal lymphocyte physiology	29851	ICOS	OMIM:240500
HP:0031409	Abnormal lymphocyte physiology	7298	TYMS	OMIM:620040
HP:0031409	Abnormal lymphocyte physiology	57724	EPG5	OMIM:242840
HP:0031409	Abnormal lymphocyte physiology	57724	EPG5	ORPHA:1493
HP:0031409	Abnormal lymphocyte physiology	915	CD3D	ORPHA:169160
HP:0031409	Abnormal lymphocyte physiology	916	CD3E	ORPHA:169160
HP:0031409	Abnormal lymphocyte physiology	919	CD247	ORPHA:169160
HP:0031409	Abnormal lymphocyte physiology	65082	VPS33A	ORPHA:505248
HP:0031409	Abnormal lymphocyte physiology	5966	REL	OMIM:619652
HP:0031409	Abnormal lymphocyte physiology	55687	TRMU	OMIM:613070
HP:0031409	Abnormal lymphocyte physiology	23495	TNFRSF13B	OMIM:240500
HP:0031409	Abnormal lymphocyte physiology	930	CD19	OMIM:240500
HP:0031409	Abnormal lymphocyte physiology	3978	LIG1	OMIM:619774
HP:0031409	Abnormal lymphocyte physiology	6651	SON	ORPHA:500150
HP:0031409	Abnormal lymphocyte physiology	1493	CTLA4	OMIM:616100
HP:0031409	Abnormal lymphocyte physiology	4791	NFKB2	OMIM:615577
HP:0031409	Abnormal lymphocyte physiology	7852	CXCR4	OMIM:193670
HP:0031409	Abnormal lymphocyte physiology	5896	RAG1	ORPHA:331206
HP:0031409	Abnormal lymphocyte physiology	5896	RAG1	OMIM:233650
HP:0031409	Abnormal lymphocyte physiology	5897	RAG2	ORPHA:331206
HP:0031409	Abnormal lymphocyte physiology	5897	RAG2	OMIM:233650
HP:0031409	Abnormal lymphocyte physiology	8792	TNFRSF11A	OMIM:612301
HP:0031409	Abnormal lymphocyte physiology	5557	PRIM1	OMIM:620005
HP:0031409	Abnormal lymphocyte physiology	3431	SP110	OMIM:235550
HP:0031409	Abnormal lymphocyte physiology	79087	ALG12	OMIM:607143
HP:0031409	Abnormal lymphocyte physiology	51311	TLR8	OMIM:301078
HP:0031409	Abnormal lymphocyte physiology	2068	ERCC2	OMIM:601675
HP:0031409	Abnormal lymphocyte physiology	7374	UNG	OMIM:608106
HP:0031409	Abnormal lymphocyte physiology	958	CD40	OMIM:606843
HP:0031409	Abnormal lymphocyte physiology	567	B2M	OMIM:241600
HP:0031409	Abnormal lymphocyte physiology	8884	SLC5A6	OMIM:618973
HP:0031409	Abnormal lymphocyte physiology	96459	FNIP1	OMIM:619705
HP:0031409	Abnormal lymphocyte physiology	359948	IRF2BP2	OMIM:617765
HP:0031409	Abnormal lymphocyte physiology	6688	SPI1	OMIM:619707
HP:0031409	Abnormal lymphocyte physiology	9138	ARHGEF1	OMIM:618459
HP:0031409	Abnormal lymphocyte physiology	84888	SPPL2A	OMIM:619549
HP:0031409	Abnormal lymphocyte physiology	6929	TCF3	OMIM:619824
HP:0031409	Abnormal lymphocyte physiology	165918	RNF168	OMIM:611943
HP:0031409	Abnormal lymphocyte physiology	165918	RNF168	ORPHA:420741
HP:0031409	Abnormal lymphocyte physiology	8883	NAE1	OMIM:620210
HP:0031409	Abnormal lymphocyte physiology	5373	PMM2	OMIM:212065
HP:0031409	Abnormal lymphocyte physiology	7922	SLC39A7	OMIM:619693
HP:0031409	Abnormal lymphocyte physiology	1678	TIMM8A	ORPHA:52368
HP:0031409	Abnormal lymphocyte physiology	973	CD79A	OMIM:613501
HP:0031409	Abnormal lymphocyte physiology	973	CD79A	ORPHA:33110
HP:0031409	Abnormal lymphocyte physiology	3543	IGLL1	OMIM:613500
HP:0031409	Abnormal lymphocyte physiology	3543	IGLL1	ORPHA:33110
HP:0031409	Abnormal lymphocyte physiology	56262	LRRC8A	OMIM:613506
HP:0031409	Abnormal lymphocyte physiology	56262	LRRC8A	ORPHA:33110
HP:0031409	Abnormal lymphocyte physiology	5994	RFXAP	ORPHA:572
HP:0031409	Abnormal lymphocyte physiology	4261	CIITA	ORPHA:572
HP:0031409	Abnormal lymphocyte physiology	5993	RFX5	ORPHA:572
HP:0031409	Abnormal lymphocyte physiology	8625	RFXANK	ORPHA:572
HP:0031409	Abnormal lymphocyte physiology	204	AK2	OMIM:267500
HP:0031409	Abnormal lymphocyte physiology	4860	PNP	OMIM:613179
HP:0031409	Abnormal lymphocyte physiology	3718	JAK3	OMIM:600802
HP:0031409	Abnormal lymphocyte physiology	3953	LEPR	ORPHA:179494
HP:0031409	Abnormal lymphocyte physiology	3952	LEP	ORPHA:66628
HP:0031409	Abnormal lymphocyte physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0031409	Abnormal lymphocyte physiology	7040	TGFB1	OMIM:618213
HP:0031409	Abnormal lymphocyte physiology	146206	CARMIL2	OMIM:618131
HP:0031409	Abnormal lymphocyte physiology	100	ADA	OMIM:102700
HP:0031409	Abnormal lymphocyte physiology	56259	CTNNBL1	OMIM:619846
HP:0031409	Abnormal lymphocyte physiology	7372	UMPS	ORPHA:30
HP:0031409	Abnormal lymphocyte physiology	7372	UMPS	OMIM:258900
HP:0031409	Abnormal lymphocyte physiology	6899	TBX1	OMIM:188400
HP:0031409	Abnormal lymphocyte physiology	6899	TBX1	OMIM:192430
HP:0031409	Abnormal lymphocyte physiology	6899	TBX1	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	55630	SLC39A4	OMIM:201100
HP:0031409	Abnormal lymphocyte physiology	57511	COG6	OMIM:614576
HP:0031409	Abnormal lymphocyte physiology	9993	DGCR2	OMIM:192430
HP:0031409	Abnormal lymphocyte physiology	8220	ESS2	OMIM:192430
HP:0031409	Abnormal lymphocyte physiology	8214	DGCR6	OMIM:192430
HP:0031409	Abnormal lymphocyte physiology	54487	DGCR8	OMIM:192430
HP:0031409	Abnormal lymphocyte physiology	1312	COMT	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	221037	JMJD1C	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	2812	GP1BB	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	6239	RREB1	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	7290	HIRA	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	9632	SEC24C	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	7353	UFD1	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	421	ARVCF	ORPHA:567
HP:0031409	Abnormal lymphocyte physiology	4615	MYD88	ORPHA:33226
HP:0031409	Abnormal lymphocyte physiology	4615	MYD88	OMIM:153600
HP:0031409	Abnormal lymphocyte physiology	84876	ORAI1	OMIM:612782
HP:0031409	Abnormal lymphocyte physiology	6786	STIM1	OMIM:612783
HP:0031409	Abnormal lymphocyte physiology	940	CD28	ORPHA:3162
HP:0031409	Abnormal lymphocyte physiology	7133	TNFRSF1B	ORPHA:3162
HP:0031409	Abnormal lymphocyte physiology	50485	SMARCAL1	OMIM:242900
HP:0031409	Abnormal lymphocyte physiology	6729	SRP54	OMIM:618752
HP:0031409	Abnormal lymphocyte physiology	9056	SLC7A7	ORPHA:470
HP:0031409	Abnormal lymphocyte physiology	213	ALB	ORPHA:86816
HP:0031409	Abnormal lymphocyte physiology	3845	KRAS	OMIM:614470
HP:0031409	Abnormal lymphocyte physiology	4893	NRAS	OMIM:614470
HP:0031409	Abnormal lymphocyte physiology	6440	SFTPC	OMIM:178500
HP:0031409	Abnormal lymphocyte physiology	727897	MUC5B	OMIM:178500
HP:0031409	Abnormal lymphocyte physiology	729238	SFTPA2	OMIM:178500
HP:0031409	Abnormal lymphocyte physiology	7015	TERT	OMIM:178500
HP:0031409	Abnormal lymphocyte physiology	11311	VPS45	OMIM:615285
HP:0031409	Abnormal lymphocyte physiology	5184	PEPD	OMIM:170100
HP:0031409	Abnormal lymphocyte physiology	1277	COL1A1	ORPHA:1310
HP:0031409	Abnormal lymphocyte physiology	3123	HLA-DRB1	OMIM:181000
HP:0031409	Abnormal lymphocyte physiology	5692	PSMB4	OMIM:617591
HP:0031409	Abnormal lymphocyte physiology	5698	PSMB9	OMIM:617591
HP:0031409	Abnormal lymphocyte physiology	2629	GBA1	ORPHA:77261
HP:0031409	Abnormal lymphocyte physiology	2629	GBA1	ORPHA:77259
HP:0031409	Abnormal lymphocyte physiology	9051	PSTPIP1	ORPHA:69126
HP:0031409	Abnormal lymphocyte physiology	23064	SETX	OMIM:606002
HP:0031409	Abnormal lymphocyte physiology	1991	ELANE	OMIM:202700
HP:0031409	Abnormal lymphocyte physiology	950	SCARB2	ORPHA:77259
HP:0031409	Abnormal lymphocyte physiology	2625	GATA3	ORPHA:2237
HP:0031409	Abnormal lymphocyte physiology	6813	STXBP2	OMIM:613101
HP:0031409	Abnormal lymphocyte physiology	5551	PRF1	ORPHA:540
HP:0031409	Abnormal lymphocyte physiology	5551	PRF1	OMIM:603553
HP:0031409	Abnormal lymphocyte physiology	8676	STX11	ORPHA:540
HP:0031409	Abnormal lymphocyte physiology	201294	UNC13D	ORPHA:540
HP:0031409	Abnormal lymphocyte physiology	201294	UNC13D	OMIM:608898
HP:0031409	Abnormal lymphocyte physiology	58484	NLRC4	OMIM:616050
HP:0031409	Abnormal lymphocyte physiology	3937	LCP2	OMIM:619374
HP:0031409	Abnormal lymphocyte physiology	7456	WIPF1	OMIM:614493
HP:0031409	Abnormal lymphocyte physiology	2214	FCGR3A	OMIM:615707
HP:0031409	Abnormal lymphocyte physiology	8546	AP3B1	OMIM:608233
HP:0031409	Abnormal lymphocyte physiology	975	CD81	OMIM:613496
HP:0031409	Abnormal lymphocyte physiology	1503	CTPS1	OMIM:615897
HP:0031409	Abnormal lymphocyte physiology	7535	ZAP70	OMIM:617006
HP:0031409	Abnormal lymphocyte physiology	5293	PIK3CD	OMIM:615513
HP:0031409	Abnormal lymphocyte physiology	3514	IGKC	ORPHA:183675
HP:0031409	Abnormal lymphocyte physiology	3501	IGHG2	ORPHA:183675
HP:0031409	Abnormal lymphocyte physiology	57591	MRTFA	OMIM:618847
HP:0031409	Abnormal lymphocyte physiology	3981	LIG4	OMIM:254500
HP:0031409	Abnormal lymphocyte physiology	84061	MAGT1	OMIM:300853
HP:0031409	Abnormal lymphocyte physiology	50619	DEF6	OMIM:619573
HP:0031409	Abnormal lymphocyte physiology	6772	STAT1	OMIM:614162
HP:0031409	Abnormal lymphocyte physiology	55388	MCM10	OMIM:619313
HP:0031409	Abnormal lymphocyte physiology	55719	SLF2	OMIM:620184
HP:0031409	Abnormal lymphocyte physiology	1794	DOCK2	OMIM:616433
HP:0031409	Abnormal lymphocyte physiology	23765	IL17RA	OMIM:613953
HP:0031409	Abnormal lymphocyte physiology	4000	LMNA	ORPHA:300751
HP:0031409	Abnormal lymphocyte physiology	6850	SYK	OMIM:619381
HP:0031409	Abnormal lymphocyte physiology	10625	IVNS1ABP	OMIM:618969
HP:0031409	Abnormal lymphocyte physiology	537	ATP6AP1	OMIM:300972
HP:0031409	Abnormal lymphocyte physiology	90417	KNSTRN	ORPHA:221139
HP:0031409	Abnormal lymphocyte physiology	931	MS4A1	OMIM:613495
HP:0031409	Abnormal lymphocyte physiology	64135	IFIH1	OMIM:619773
HP:0031409	Abnormal lymphocyte physiology	30011	SH3KBP1	OMIM:300310
HP:0031409	Abnormal lymphocyte physiology	917	CD3G	OMIM:615607
HP:0031409	Abnormal lymphocyte physiology	7737	RNF113A	OMIM:300953
HP:0031409	Abnormal lymphocyte physiology	1380	CR2	OMIM:614699
HP:0031409	Abnormal lymphocyte physiology	6773	STAT2	OMIM:616636
HP:0031409	Abnormal lymphocyte physiology	3394	IRF8	OMIM:226990
HP:0031409	Abnormal lymphocyte physiology	4598	MVK	OMIM:260920
HP:0031409	Abnormal lymphocyte physiology	4598	MVK	OMIM:610377
HP:0031409	Abnormal lymphocyte physiology	55343	SLC35C1	ORPHA:99843
HP:0031409	Abnormal lymphocyte physiology	10892	MALT1	OMIM:615468
HP:0031409	Abnormal lymphocyte physiology	11151	CORO1A	OMIM:615401
HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	50943	FOXP3	ORPHA:37042
HP:0031402	Reduced antigen-specific T cell proliferation	1503	CTPS1	OMIM:615897
HP:0031402	Reduced antigen-specific T cell proliferation	5896	RAG1	ORPHA:331206
HP:0031402	Reduced antigen-specific T cell proliferation	5897	RAG2	ORPHA:331206
HP:0031402	Reduced antigen-specific T cell proliferation	1794	DOCK2	OMIM:616433
HP:0031402	Reduced antigen-specific T cell proliferation	5238	PGM3	ORPHA:443811
HP:0031402	Reduced antigen-specific T cell proliferation	84433	CARD11	OMIM:615206
HP:0031402	Reduced antigen-specific T cell proliferation	56160	NSMCE3	OMIM:617241
HP:0031402	Reduced antigen-specific T cell proliferation	3937	LCP2	OMIM:619374
HP:0031404	Impaired antigen-specific response	57511	COG6	OMIM:614576
HP:0031404	Impaired antigen-specific response	355	FAS	ORPHA:3261
HP:0031404	Impaired antigen-specific response	356	FASLG	ORPHA:3261
HP:0031404	Impaired antigen-specific response	843	CASP10	ORPHA:3261
HP:0031404	Impaired antigen-specific response	10125	RASGRP1	ORPHA:3261
HP:0031404	Impaired antigen-specific response	7454	WAS	OMIM:301000
HP:0031404	Impaired antigen-specific response	84061	MAGT1	OMIM:300853
HP:0031404	Impaired antigen-specific response	3559	IL2RA	OMIM:606367
HP:0031404	Impaired antigen-specific response	100	ADA	OMIM:102700
HP:0031404	Impaired antigen-specific response	56259	CTNNBL1	OMIM:619846
HP:0031404	Impaired antigen-specific response	7535	ZAP70	OMIM:617006
HP:0031404	Impaired antigen-specific response	5293	PIK3CD	OMIM:615513
HP:0031404	Impaired antigen-specific response	3514	IGKC	ORPHA:183675
HP:0031404	Impaired antigen-specific response	3501	IGHG2	ORPHA:183675
HP:0031404	Impaired antigen-specific response	5896	RAG1	ORPHA:331206
HP:0031404	Impaired antigen-specific response	5897	RAG2	ORPHA:331206
HP:0031404	Impaired antigen-specific response	1794	DOCK2	OMIM:616433
HP:0031404	Impaired antigen-specific response	5238	PGM3	ORPHA:443811
HP:0031404	Impaired antigen-specific response	56160	NSMCE3	OMIM:617241
HP:0031404	Impaired antigen-specific response	3937	LCP2	OMIM:619374
HP:0031404	Impaired antigen-specific response	5373	PMM2	ORPHA:79318
HP:0031404	Impaired antigen-specific response	1380	CR2	OMIM:614699
HP:0031404	Impaired antigen-specific response	930	CD19	OMIM:613493
HP:0031404	Impaired antigen-specific response	359948	IRF2BP2	OMIM:617765
HP:0031404	Impaired antigen-specific response	987	LRBA	OMIM:614700
HP:0031404	Impaired antigen-specific response	90417	KNSTRN	ORPHA:221139
HP:0031404	Impaired antigen-specific response	146206	CARMIL2	OMIM:618131
HP:0031404	Impaired antigen-specific response	55343	SLC35C1	ORPHA:99843
HP:0031404	Impaired antigen-specific response	5580	PRKCD	OMIM:615559
HP:0031404	Impaired antigen-specific response	973	CD79A	OMIM:613501
HP:0031404	Impaired antigen-specific response	11151	CORO1A	OMIM:615401
HP:0031404	Impaired antigen-specific response	919	CD247	OMIM:610163
HP:0031404	Impaired antigen-specific response	10892	MALT1	OMIM:615468
HP:0031404	Impaired antigen-specific response	975	CD81	OMIM:613496
HP:0031404	Impaired antigen-specific response	57379	AICDA	OMIM:605258
HP:0031404	Impaired antigen-specific response	9138	ARHGEF1	OMIM:618459
HP:0031404	Impaired antigen-specific response	79087	ALG12	ORPHA:79324
HP:0031404	Impaired antigen-specific response	1503	CTPS1	OMIM:615897
HP:0031404	Impaired antigen-specific response	970	CD70	OMIM:618261
HP:0031404	Impaired antigen-specific response	8737	RIPK1	OMIM:618108
HP:0031404	Impaired antigen-specific response	6929	TCF3	OMIM:619824
HP:0031404	Impaired antigen-specific response	5966	REL	OMIM:619652
HP:0031404	Impaired antigen-specific response	567	B2M	OMIM:241600
HP:0031404	Impaired antigen-specific response	84433	CARD11	OMIM:616452
HP:0031404	Impaired antigen-specific response	10525	HYOU1	OMIM:233600
HP:0031404	Impaired antigen-specific response	841	CASP8	OMIM:607271
HP:0031404	Impaired antigen-specific response	8517	IKBKG	OMIM:301081
HP:0031404	Impaired antigen-specific response	23495	TNFRSF13B	OMIM:240500
HP:0031404	Impaired antigen-specific response	115650	TNFRSF13C	OMIM:240500
HP:0031404	Impaired antigen-specific response	29851	ICOS	OMIM:240500
HP:0031404	Impaired antigen-specific response	695	BTK	OMIM:300755
HP:0031404	Impaired antigen-specific response	5880	RAC2	OMIM:618986
HP:0031404	Impaired antigen-specific response	54440	SASH3	OMIM:301082
HP:0005560	Imbalanced hemoglobin synthesis	3043	HBB	ORPHA:90039
HP:0005560	Imbalanced hemoglobin synthesis	3043	HBB	OMIM:613985
HP:0005560	Imbalanced hemoglobin synthesis	3040	HBA2	OMIM:604131
HP:0005560	Imbalanced hemoglobin synthesis	3040	HBA2	OMIM:613978
HP:0005560	Imbalanced hemoglobin synthesis	3039	HBA1	OMIM:604131
HP:0005560	Imbalanced hemoglobin synthesis	3039	HBA1	OMIM:613978
HP:0005560	Imbalanced hemoglobin synthesis	546	ATRX	OMIM:301040
HP:0005560	Imbalanced hemoglobin synthesis	546	ATRX	OMIM:300448
HP:0005561	Abnormality of bone marrow cell morphology	867	CBL	ORPHA:98850
HP:0005561	Abnormality of bone marrow cell morphology	861	RUNX1	ORPHA:98850
HP:0005561	Abnormality of bone marrow cell morphology	7293	TNFRSF4	OMIM:615593
HP:0005561	Abnormality of bone marrow cell morphology	5880	RAC2	OMIM:618986
HP:0005561	Abnormality of bone marrow cell morphology	987	LRBA	OMIM:614700
HP:0005561	Abnormality of bone marrow cell morphology	113235	SLC46A1	ORPHA:90045
HP:0005561	Abnormality of bone marrow cell morphology	4125	MAN2B1	ORPHA:309282
HP:0005561	Abnormality of bone marrow cell morphology	4125	MAN2B1	ORPHA:309288
HP:0005561	Abnormality of bone marrow cell morphology	58484	NLRC4	OMIM:616050
HP:0005561	Abnormality of bone marrow cell morphology	4522	MTHFD1	OMIM:617780
HP:0005561	Abnormality of bone marrow cell morphology	2175	FANCA	OMIM:227650
HP:0005561	Abnormality of bone marrow cell morphology	55788	LMBRD1	OMIM:277380
HP:0005561	Abnormality of bone marrow cell morphology	8029	CUBN	ORPHA:35858
HP:0005561	Abnormality of bone marrow cell morphology	81693	AMN	ORPHA:35858
HP:0005561	Abnormality of bone marrow cell morphology	219285	SAMD9L	OMIM:159550
HP:0005561	Abnormality of bone marrow cell morphology	219285	SAMD9L	ORPHA:2585
HP:0005561	Abnormality of bone marrow cell morphology	5994	RFXAP	ORPHA:572
HP:0005561	Abnormality of bone marrow cell morphology	4261	CIITA	ORPHA:572
HP:0005561	Abnormality of bone marrow cell morphology	5993	RFX5	ORPHA:572
HP:0005561	Abnormality of bone marrow cell morphology	8625	RFXANK	ORPHA:572
HP:0005561	Abnormality of bone marrow cell morphology	27235	COQ2	OMIM:607426
HP:0005561	Abnormality of bone marrow cell morphology	1777	DNASE2	OMIM:619858
HP:0005561	Abnormality of bone marrow cell morphology	3431	SP110	ORPHA:79124
HP:0005561	Abnormality of bone marrow cell morphology	1854	DUT	OMIM:620044
HP:0005561	Abnormality of bone marrow cell morphology	5277	PIGA	ORPHA:447
HP:0005561	Abnormality of bone marrow cell morphology	5095	PCCA	OMIM:606054
HP:0005561	Abnormality of bone marrow cell morphology	5096	PCCB	OMIM:606054
HP:0005561	Abnormality of bone marrow cell morphology	2178	FANCE	OMIM:600901
HP:0005561	Abnormality of bone marrow cell morphology	57511	COG6	OMIM:614576
HP:0005561	Abnormality of bone marrow cell morphology	545	ATR	OMIM:210600
HP:0005561	Abnormality of bone marrow cell morphology	10320	IKZF1	OMIM:616873
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	OMIM:231005
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	OMIM:231000
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	ORPHA:85212
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	OMIM:230800
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	ORPHA:2072
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	ORPHA:77261
HP:0005561	Abnormality of bone marrow cell morphology	2629	GBA1	ORPHA:77259
HP:0005561	Abnormality of bone marrow cell morphology	80216	ALPK1	OMIM:614979
HP:0005561	Abnormality of bone marrow cell morphology	326625	MMAB	OMIM:251110
HP:0005561	Abnormality of bone marrow cell morphology	5873	RAB27A	ORPHA:79477
HP:0005561	Abnormality of bone marrow cell morphology	54	ACP5	ORPHA:1855
HP:0005561	Abnormality of bone marrow cell morphology	9051	PSTPIP1	OMIM:604416
HP:0005561	Abnormality of bone marrow cell morphology	3702	ITK	OMIM:613011
HP:0005561	Abnormality of bone marrow cell morphology	10056	FARSB	OMIM:613658
HP:0005561	Abnormality of bone marrow cell morphology	166785	MMAA	OMIM:251100
HP:0005561	Abnormality of bone marrow cell morphology	84868	HAVCR2	OMIM:618398
HP:0005561	Abnormality of bone marrow cell morphology	3845	KRAS	OMIM:614470
HP:0005561	Abnormality of bone marrow cell morphology	4893	NRAS	OMIM:614470
HP:0005561	Abnormality of bone marrow cell morphology	374879	ZNF699	OMIM:619488
HP:0005561	Abnormality of bone marrow cell morphology	60468	BACH2	OMIM:618394
HP:0005561	Abnormality of bone marrow cell morphology	83737	ITCH	OMIM:613385
HP:0005561	Abnormality of bone marrow cell morphology	83737	ITCH	ORPHA:228426
HP:0005561	Abnormality of bone marrow cell morphology	5788	PTPRC	OMIM:619924
HP:0005561	Abnormality of bone marrow cell morphology	64135	IFIH1	OMIM:615846
HP:0005561	Abnormality of bone marrow cell morphology	3123	HLA-DRB1	OMIM:181000
HP:0005561	Abnormality of bone marrow cell morphology	55739	NAXD	OMIM:618321
HP:0005561	Abnormality of bone marrow cell morphology	51081	MRPS7	OMIM:617872
HP:0005561	Abnormality of bone marrow cell morphology	84464	SLX4	OMIM:613951
HP:0005561	Abnormality of bone marrow cell morphology	1719	DHFR	OMIM:613839
HP:0005561	Abnormality of bone marrow cell morphology	28962	OSTM1	OMIM:259720
HP:0005561	Abnormality of bone marrow cell morphology	10535	RNASEH2A	OMIM:610333
HP:0005561	Abnormality of bone marrow cell morphology	6929	TCF3	OMIM:619824
HP:0005561	Abnormality of bone marrow cell morphology	54938	SARS2	OMIM:613845
HP:0005561	Abnormality of bone marrow cell morphology	6888	TALDO1	OMIM:606003
HP:0005561	Abnormality of bone marrow cell morphology	950	SCARB2	ORPHA:77259
HP:0005561	Abnormality of bone marrow cell morphology	8600	TNFSF11	OMIM:259710
HP:0005561	Abnormality of bone marrow cell morphology	2187	FANCB	OMIM:300514
HP:0005561	Abnormality of bone marrow cell morphology	331	XIAP	OMIM:300635
HP:0005561	Abnormality of bone marrow cell morphology	331	XIAP	OMIM:308240
HP:0005561	Abnormality of bone marrow cell morphology	9401	RECQL4	ORPHA:221016
HP:0005561	Abnormality of bone marrow cell morphology	10312	TCIRG1	ORPHA:486
HP:0005561	Abnormality of bone marrow cell morphology	1991	ELANE	ORPHA:486
HP:0005561	Abnormality of bone marrow cell morphology	2672	GFI1	ORPHA:486
HP:0005561	Abnormality of bone marrow cell morphology	939	CD27	OMIM:615122
HP:0005561	Abnormality of bone marrow cell morphology	79728	PALB2	OMIM:610832
HP:0005561	Abnormality of bone marrow cell morphology	4068	SH2D1A	OMIM:308240
HP:0005561	Abnormality of bone marrow cell morphology	64682	ANAPC1	ORPHA:221008
HP:0005561	Abnormality of bone marrow cell morphology	4552	MTRR	ORPHA:2169
HP:0005561	Abnormality of bone marrow cell morphology	27249	MMADHC	ORPHA:79283
HP:0005561	Abnormality of bone marrow cell morphology	6948	TCN2	OMIM:275350
HP:0005561	Abnormality of bone marrow cell morphology	6948	TCN2	ORPHA:859
HP:0005561	Abnormality of bone marrow cell morphology	10019	SH2B3	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	811	CALR	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	7157	TP53	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	4352	MPL	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	4352	MPL	OMIM:601977
HP:0005561	Abnormality of bone marrow cell morphology	3717	JAK2	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	3717	JAK2	OMIM:263300
HP:0005561	Abnormality of bone marrow cell morphology	54790	TET2	ORPHA:3318
HP:0005561	Abnormality of bone marrow cell morphology	54790	TET2	ORPHA:75564
HP:0005561	Abnormality of bone marrow cell morphology	23451	SF3B1	ORPHA:75564
HP:0005561	Abnormality of bone marrow cell morphology	128	ADH5	OMIM:619151
HP:0005561	Abnormality of bone marrow cell morphology	355	FAS	ORPHA:3261
HP:0005561	Abnormality of bone marrow cell morphology	356	FASLG	ORPHA:3261
HP:0005561	Abnormality of bone marrow cell morphology	5580	PRKCD	ORPHA:3261
HP:0005561	Abnormality of bone marrow cell morphology	843	CASP10	ORPHA:3261
HP:0005561	Abnormality of bone marrow cell morphology	10125	RASGRP1	ORPHA:3261
HP:0005561	Abnormality of bone marrow cell morphology	26277	TINF2	OMIM:268130
HP:0005561	Abnormality of bone marrow cell morphology	26277	TINF2	OMIM:127550
HP:0005561	Abnormality of bone marrow cell morphology	26277	TINF2	OMIM:613990
HP:0005561	Abnormality of bone marrow cell morphology	26277	TINF2	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	26277	TINF2	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	51750	RTEL1	OMIM:615190
HP:0005561	Abnormality of bone marrow cell morphology	51750	RTEL1	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	51750	RTEL1	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	2072	ERCC4	OMIM:615272
HP:0005561	Abnormality of bone marrow cell morphology	134218	DNAJC21	OMIM:617052
HP:0005561	Abnormality of bone marrow cell morphology	134218	DNAJC21	ORPHA:811
HP:0005561	Abnormality of bone marrow cell morphology	55651	NHP2	OMIM:224230
HP:0005561	Abnormality of bone marrow cell morphology	55651	NHP2	OMIM:613987
HP:0005561	Abnormality of bone marrow cell morphology	55651	NHP2	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	55505	NOP10	OMIM:224230
HP:0005561	Abnormality of bone marrow cell morphology	55505	NOP10	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	OMIM:614742
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	OMIM:127550
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	OMIM:613989
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	OMIM:609135
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	ORPHA:88
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	7015	TERT	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	5238	PGM3	ORPHA:443811
HP:0005561	Abnormality of bone marrow cell morphology	6154	RPL26	OMIM:614900
HP:0005561	Abnormality of bone marrow cell morphology	7012	TERC	OMIM:614743
HP:0005561	Abnormality of bone marrow cell morphology	7012	TERC	OMIM:127550
HP:0005561	Abnormality of bone marrow cell morphology	7012	TERC	ORPHA:88
HP:0005561	Abnormality of bone marrow cell morphology	7012	TERC	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	1736	DKC1	OMIM:305000
HP:0005561	Abnormality of bone marrow cell morphology	1736	DKC1	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	1736	DKC1	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	375748	ERCC6L2	OMIM:615715
HP:0005561	Abnormality of bone marrow cell morphology	2624	GATA2	ORPHA:3226
HP:0005561	Abnormality of bone marrow cell morphology	2624	GATA2	ORPHA:98827
HP:0005561	Abnormality of bone marrow cell morphology	79991	STN1	OMIM:617341
HP:0005561	Abnormality of bone marrow cell morphology	55596	ZCCHC8	OMIM:618674
HP:0005561	Abnormality of bone marrow cell morphology	6731	SRP72	OMIM:614675
HP:0005561	Abnormality of bone marrow cell morphology	50485	SMARCAL1	ORPHA:1830
HP:0005561	Abnormality of bone marrow cell morphology	55215	FANCI	OMIM:609053
HP:0005561	Abnormality of bone marrow cell morphology	51816	ADA2	OMIM:615688
HP:0005561	Abnormality of bone marrow cell morphology	83990	BRIP1	OMIM:609054
HP:0005561	Abnormality of bone marrow cell morphology	65082	VPS33A	OMIM:617303
HP:0005561	Abnormality of bone marrow cell morphology	65082	VPS33A	ORPHA:505248
HP:0005561	Abnormality of bone marrow cell morphology	6117	RPA1	OMIM:619767
HP:0005561	Abnormality of bone marrow cell morphology	55135	WRAP53	OMIM:613988
HP:0005561	Abnormality of bone marrow cell morphology	55135	WRAP53	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	4683	NBN	OMIM:609135
HP:0005561	Abnormality of bone marrow cell morphology	5551	PRF1	OMIM:609135
HP:0005561	Abnormality of bone marrow cell morphology	5551	PRF1	ORPHA:88
HP:0005561	Abnormality of bone marrow cell morphology	51119	SBDS	OMIM:609135
HP:0005561	Abnormality of bone marrow cell morphology	51119	SBDS	ORPHA:811
HP:0005561	Abnormality of bone marrow cell morphology	51119	SBDS	ORPHA:88
HP:0005561	Abnormality of bone marrow cell morphology	3458	IFNG	OMIM:609135
HP:0005561	Abnormality of bone marrow cell morphology	3458	IFNG	ORPHA:88
HP:0005561	Abnormality of bone marrow cell morphology	1186	CLCN7	OMIM:166600
HP:0005561	Abnormality of bone marrow cell morphology	79631	EFL1	ORPHA:811
HP:0005561	Abnormality of bone marrow cell morphology	6729	SRP54	ORPHA:811
HP:0005561	Abnormality of bone marrow cell morphology	2188	FANCF	OMIM:603467
HP:0005561	Abnormality of bone marrow cell morphology	675	BRCA2	OMIM:605724
HP:0005561	Abnormality of bone marrow cell morphology	3930	LBR	OMIM:215140
HP:0005561	Abnormality of bone marrow cell morphology	2177	FANCD2	OMIM:227646
HP:0005561	Abnormality of bone marrow cell morphology	2176	FANCC	OMIM:227645
HP:0005561	Abnormality of bone marrow cell morphology	55120	FANCL	OMIM:614083
HP:0005561	Abnormality of bone marrow cell morphology	7040	TGFB1	OMIM:131300
HP:0005561	Abnormality of bone marrow cell morphology	4194	MDM4	OMIM:618849
HP:0005561	Abnormality of bone marrow cell morphology	65057	ACD	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	65057	ACD	OMIM:616553
HP:0005561	Abnormality of bone marrow cell morphology	5073	PARN	ORPHA:3322
HP:0005561	Abnormality of bone marrow cell morphology	5073	PARN	OMIM:616353
HP:0005561	Abnormality of bone marrow cell morphology	5073	PARN	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	2778	GNAS	ORPHA:562
HP:0005561	Abnormality of bone marrow cell morphology	3712	IVD	OMIM:243500
HP:0005561	Abnormality of bone marrow cell morphology	51428	DDX41	OMIM:616871
HP:0005561	Abnormality of bone marrow cell morphology	5888	RAD51	OMIM:617244
HP:0005561	Abnormality of bone marrow cell morphology	10459	MAD2L2	OMIM:617243
HP:0005561	Abnormality of bone marrow cell morphology	57728	WDR19	OMIM:614378
HP:0005561	Abnormality of bone marrow cell morphology	80169	CTC1	OMIM:612199
HP:0005561	Abnormality of bone marrow cell morphology	80169	CTC1	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	79650	USB1	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	4869	NPM1	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	7298	TYMS	ORPHA:1775
HP:0005561	Abnormality of bone marrow cell morphology	29089	UBE2T	OMIM:616435
HP:0005561	Abnormality of bone marrow cell morphology	64858	DCLRE1B	OMIM:620133
HP:0005561	Abnormality of bone marrow cell morphology	2313	FLI1	ORPHA:2308
HP:0005561	Abnormality of bone marrow cell morphology	760	CA2	ORPHA:2785
HP:0005561	Abnormality of bone marrow cell morphology	9630	GNA14	ORPHA:1063
HP:0005561	Abnormality of bone marrow cell morphology	57169	ZNFX1	OMIM:619644
HP:0005561	Abnormality of bone marrow cell morphology	3207	HOXA11	OMIM:605432
HP:0005561	Abnormality of bone marrow cell morphology	56992	KIF15	OMIM:619981
HP:0005561	Abnormality of bone marrow cell morphology	9663	LPIN2	ORPHA:77297
HP:0005561	Abnormality of bone marrow cell morphology	595	CCND1	ORPHA:52416
HP:0005561	Abnormality of bone marrow cell morphology	472	ATM	ORPHA:52416
HP:0005561	Abnormality of bone marrow cell morphology	3492	IGH	ORPHA:52416
HP:0005561	Abnormality of bone marrow cell morphology	7852	CXCR4	OMIM:193670
HP:0005561	Abnormality of bone marrow cell morphology	7518	XRCC4	ORPHA:99812
HP:0005561	Abnormality of bone marrow cell morphology	3981	LIG4	ORPHA:99812
HP:0005561	Abnormality of bone marrow cell morphology	3248	HPGD	ORPHA:2796
HP:0005561	Abnormality of bone marrow cell morphology	6578	SLCO2A1	ORPHA:2796
HP:0005561	Abnormality of bone marrow cell morphology	4609	MYC	ORPHA:543
HP:0005561	Abnormality of bone marrow cell morphology	5566	PRKACA	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	5567	PRKACB	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	2735	GLI1	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	2121	EVC	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	51626	DYNC2LI1	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	132884	EVC2	ORPHA:289
HP:0005561	Abnormality of bone marrow cell morphology	93183	PIGM	OMIM:610293
HP:0005561	Abnormality of bone marrow cell morphology	1493	CTLA4	ORPHA:2584
HP:0005561	Abnormality of bone marrow cell morphology	940	CD28	ORPHA:2584
HP:0005561	Abnormality of bone marrow cell morphology	7133	TNFRSF1B	ORPHA:2584
HP:0005561	Abnormality of bone marrow cell morphology	51311	TLR8	OMIM:301078
HP:0005561	Abnormality of bone marrow cell morphology	8036	SHOC2	OMIM:607721
HP:0005561	Abnormality of bone marrow cell morphology	80739	MPIG6B	OMIM:617441
HP:0005561	Abnormality of bone marrow cell morphology	6916	TBXAS1	OMIM:231095
HP:0005561	Abnormality of bone marrow cell morphology	6714	SRC	OMIM:616937
HP:0005561	Abnormality of bone marrow cell morphology	8328	GFI1B	OMIM:187900
HP:0005561	Abnormality of bone marrow cell morphology	23218	NBEAL2	OMIM:139090
HP:0005561	Abnormality of bone marrow cell morphology	6208	RPS14	ORPHA:86841
HP:0005561	Abnormality of bone marrow cell morphology	4926	NUMA1	OMIM:612376
HP:0005561	Abnormality of bone marrow cell morphology	5914	RARA	OMIM:612376
HP:0005561	Abnormality of bone marrow cell morphology	2623	GATA1	OMIM:300835
HP:0005561	Abnormality of bone marrow cell morphology	171023	ASXL1	ORPHA:98849
HP:0005561	Abnormality of bone marrow cell morphology	3815	KIT	ORPHA:98849
HP:0005561	Abnormality of bone marrow cell morphology	6427	SRSF2	ORPHA:98849
HP:0005561	Abnormality of bone marrow cell morphology	3394	IRF8	OMIM:226990
HP:0005561	Abnormality of bone marrow cell morphology	6141	RPL18	OMIM:618310
HP:0005561	Abnormality of bone marrow cell morphology	2533	FYB1	OMIM:273900
HP:0005561	Abnormality of bone marrow cell morphology	10559	SLC35A1	ORPHA:238459
HP:0005561	Abnormality of bone marrow cell morphology	2811	GP1BA	ORPHA:274
HP:0005561	Abnormality of bone marrow cell morphology	2812	GP1BB	ORPHA:274
HP:0005561	Abnormality of bone marrow cell morphology	2815	GP9	ORPHA:274
HP:0005561	Abnormality of bone marrow cell morphology	1130	LYST	ORPHA:167
HP:0005561	Abnormality of bone marrow cell morphology	8676	STX11	ORPHA:540
HP:0005561	Abnormality of bone marrow cell morphology	201294	UNC13D	ORPHA:540
HP:0005561	Abnormality of bone marrow cell morphology	6813	STXBP2	ORPHA:540
HP:0005561	Abnormality of bone marrow cell morphology	6774	STAT3	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	5371	PML	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	359948	IRF2BP2	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	81608	FIP1L1	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	5573	PRKAR1A	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	54880	BCOR	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	64859	NABP1	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	6777	STAT5B	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	7704	ZBTB16	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	79718	TBL1XR1	ORPHA:520
HP:0005561	Abnormality of bone marrow cell morphology	9056	SLC7A7	ORPHA:470
HP:0005561	Abnormality of bone marrow cell morphology	3579	CXCR2	OMIM:619407
HP:0005561	Abnormality of bone marrow cell morphology	54809	SAMD9	OMIM:619041
HP:0005561	Abnormality of bone marrow cell morphology	114803	MYSM1	ORPHA:508542
HP:0005561	Abnormality of bone marrow cell morphology	4627	MYH9	OMIM:155100
HP:0005561	Abnormality of bone marrow cell morphology	7317	UBA1	OMIM:301054
HP:0005561	Abnormality of bone marrow cell morphology	55159	RFWD3	OMIM:617784
HP:0005561	Abnormality of bone marrow cell morphology	2316	FLNA	OMIM:300049
HP:0005561	Abnormality of bone marrow cell morphology	81570	CLPB	OMIM:616271
HP:0005561	Abnormality of bone marrow cell morphology	1441	CSF3R	OMIM:617014
HP:0005561	Abnormality of bone marrow cell morphology	6603	SMARCD2	OMIM:617475
HP:0005561	Abnormality of bone marrow cell morphology	84522	JAGN1	OMIM:616022
HP:0005561	Abnormality of bone marrow cell morphology	7454	WAS	OMIM:300299
HP:0005561	Abnormality of bone marrow cell morphology	22852	ANKRD26	OMIM:188000
HP:0005562	Multiple renal cysts	7428	VHL	ORPHA:892
HP:0005562	Multiple renal cysts	7428	VHL	OMIM:193300
HP:0005562	Multiple renal cysts	595	CCND1	ORPHA:892
HP:0005562	Multiple renal cysts	595	CCND1	OMIM:193300
HP:0005562	Multiple renal cysts	5373	PMM2	ORPHA:79318
HP:0005562	Multiple renal cysts	5311	PKD2	OMIM:613095
HP:0005562	Multiple renal cysts	5194	PEX13	OMIM:614883
HP:0005562	Multiple renal cysts	168667	BMPER	ORPHA:66637
HP:0005562	Multiple renal cysts	1282	COL4A1	ORPHA:73229
HP:0005562	Multiple renal cysts	6804	STX1A	ORPHA:904
HP:0005562	Multiple renal cysts	7461	CLIP2	ORPHA:904
HP:0005562	Multiple renal cysts	84277	DNAJC30	ORPHA:904
HP:0005562	Multiple renal cysts	8468	FKBP6	ORPHA:904
HP:0005562	Multiple renal cysts	5982	RFC2	ORPHA:904
HP:0005562	Multiple renal cysts	2969	GTF2I	ORPHA:904
HP:0005562	Multiple renal cysts	3984	LIMK1	ORPHA:904
HP:0005562	Multiple renal cysts	9569	GTF2IRD1	ORPHA:904
HP:0005562	Multiple renal cysts	155382	VPS37D	ORPHA:904
HP:0005562	Multiple renal cysts	155368	METTL27	ORPHA:904
HP:0005562	Multiple renal cysts	114049	BUD23	ORPHA:904
HP:0005562	Multiple renal cysts	7458	EIF4H	ORPHA:904
HP:0005562	Multiple renal cysts	84163	GTF2IRD2	ORPHA:904
HP:0005562	Multiple renal cysts	9275	BCL7B	ORPHA:904
HP:0005562	Multiple renal cysts	26608	TBL2	ORPHA:904
HP:0005562	Multiple renal cysts	653361	NCF1	ORPHA:904
HP:0005562	Multiple renal cysts	135886	TMEM270	ORPHA:904
HP:0005562	Multiple renal cysts	51085	MLXIPL	ORPHA:904
HP:0005562	Multiple renal cysts	9031	BAZ1B	ORPHA:904
HP:0005562	Multiple renal cysts	2006	ELN	ORPHA:904
HP:0005562	Multiple renal cysts	1312	COMT	ORPHA:567
HP:0005562	Multiple renal cysts	221037	JMJD1C	ORPHA:567
HP:0005562	Multiple renal cysts	2812	GP1BB	ORPHA:567
HP:0005562	Multiple renal cysts	6239	RREB1	ORPHA:567
HP:0005562	Multiple renal cysts	6899	TBX1	ORPHA:567
HP:0005562	Multiple renal cysts	7290	HIRA	ORPHA:567
HP:0005562	Multiple renal cysts	9632	SEC24C	ORPHA:567
HP:0005562	Multiple renal cysts	7353	UFD1	ORPHA:567
HP:0005562	Multiple renal cysts	421	ARVCF	ORPHA:567
HP:0005562	Multiple renal cysts	2317	FLNB	ORPHA:1190
HP:0005562	Multiple renal cysts	6794	STK11	ORPHA:2869
HP:0005562	Multiple renal cysts	11231	SEC63	ORPHA:2924
HP:0005562	Multiple renal cysts	5589	PRKCSH	ORPHA:2924
HP:0005562	Multiple renal cysts	4041	LRP5	ORPHA:2924
HP:0005562	Multiple renal cysts	8449	DHX16	OMIM:618733
HP:0005562	Multiple renal cysts	7248	TSC1	ORPHA:538
HP:0005562	Multiple renal cysts	7249	TSC2	ORPHA:538
HP:0005562	Multiple renal cysts	6299	SALL1	ORPHA:857
HP:0005562	Multiple renal cysts	51339	DACT1	ORPHA:857
HP:0005562	Multiple renal cysts	4853	NOTCH2	ORPHA:955
HP:0005562	Multiple renal cysts	29880	ALG5	OMIM:620056
HP:0005562	Multiple renal cysts	4952	OCRL	ORPHA:534
HP:0005563	Decreased numbers of nephrons	5087	PBX1	OMIM:617641
HP:0005563	Decreased numbers of nephrons	6928	HNF1B	OMIM:137920
HP:0005564	Absence of renal corticomedullary differentiation	7249	TSC2	OMIM:613254
HP:0005564	Absence of renal corticomedullary differentiation	3458	IFNG	OMIM:613254
HP:0005564	Absence of renal corticomedullary differentiation	8364	H4C3	OMIM:619758
HP:0005564	Absence of renal corticomedullary differentiation	27130	INVS	OMIM:602088
HP:0005564	Absence of renal corticomedullary differentiation	5087	PBX1	OMIM:617641
HP:0005564	Absence of renal corticomedullary differentiation	5076	PAX2	OMIM:120330
HP:0005564	Absence of renal corticomedullary differentiation	5314	PKHD1	OMIM:263200
HP:0100511	Abnormality of vitamin D metabolism	4041	LRP5	ORPHA:2788
HP:0100511	Abnormality of vitamin D metabolism	1576	CYP3A4	OMIM:619073
HP:0100511	Abnormality of vitamin D metabolism	1594	CYP27B1	OMIM:264700
HP:0100511	Abnormality of vitamin D metabolism	1594	CYP27B1	ORPHA:289157
HP:0100511	Abnormality of vitamin D metabolism	120227	CYP2R1	ORPHA:289157
HP:0100511	Abnormality of vitamin D metabolism	23600	AMACR	OMIM:214950
HP:0100511	Abnormality of vitamin D metabolism	142680	SLC34A3	OMIM:241530
HP:0100511	Abnormality of vitamin D metabolism	7421	VDR	OMIM:277440
HP:0100511	Abnormality of vitamin D metabolism	6569	SLC34A1	OMIM:613388
HP:0100511	Abnormality of vitamin D metabolism	6569	SLC34A1	ORPHA:157215
HP:0100511	Abnormality of vitamin D metabolism	2591	GALNT3	OMIM:211900
HP:0100511	Abnormality of vitamin D metabolism	1184	CLCN5	OMIM:300554
HP:0100511	Abnormality of vitamin D metabolism	1184	CLCN5	OMIM:300009
HP:0100511	Abnormality of vitamin D metabolism	9365	KL	OMIM:617994
HP:0100511	Abnormality of vitamin D metabolism	3376	IARS1	ORPHA:541423
HP:0100511	Abnormality of vitamin D metabolism	1758	DMP1	ORPHA:289176
HP:0100511	Abnormality of vitamin D metabolism	5167	ENPP1	ORPHA:289176
HP:0100511	Abnormality of vitamin D metabolism	2592	GALT	ORPHA:79239
HP:0100511	Abnormality of vitamin D metabolism	6554	SLC10A1	OMIM:619256
HP:0100511	Abnormality of vitamin D metabolism	8074	FGF23	ORPHA:89937
HP:0100511	Abnormality of vitamin D metabolism	2590	GALNT2	OMIM:618885
HP:0100511	Abnormality of vitamin D metabolism	2859	GPR35	ORPHA:171
HP:0100511	Abnormality of vitamin D metabolism	10507	SEMA4D	ORPHA:171
HP:0100511	Abnormality of vitamin D metabolism	4485	MST1	ORPHA:171
HP:0100511	Abnormality of vitamin D metabolism	6925	TCF4	ORPHA:171
HP:0100511	Abnormality of vitamin D metabolism	134218	DNAJC21	OMIM:617052
HP:0100511	Abnormality of vitamin D metabolism	134218	DNAJC21	ORPHA:811
HP:0100511	Abnormality of vitamin D metabolism	54914	FOCAD	OMIM:619991
HP:0100511	Abnormality of vitamin D metabolism	6135	RPL11	OMIM:612562
HP:0100511	Abnormality of vitamin D metabolism	2006	ELN	ORPHA:90348
HP:0100511	Abnormality of vitamin D metabolism	10516	FBLN5	ORPHA:90348
HP:0100511	Abnormality of vitamin D metabolism	5832	ALDH18A1	ORPHA:90348
HP:0100511	Abnormality of vitamin D metabolism	3117	HLA-DQA1	OMIM:212750
HP:0100511	Abnormality of vitamin D metabolism	3119	HLA-DQB1	OMIM:212750
HP:0100511	Abnormality of vitamin D metabolism	10056	FARSB	OMIM:613658
HP:0100511	Abnormality of vitamin D metabolism	5745	PTH1R	OMIM:600002
HP:0100511	Abnormality of vitamin D metabolism	4547	MTTP	ORPHA:14
HP:0100511	Abnormality of vitamin D metabolism	123264	SLC51B	OMIM:619481
HP:0100511	Abnormality of vitamin D metabolism	4312	MMP1	ORPHA:79408
HP:0100511	Abnormality of vitamin D metabolism	1294	COL7A1	ORPHA:79408
HP:0100511	Abnormality of vitamin D metabolism	1294	COL7A1	ORPHA:89842
HP:0100511	Abnormality of vitamin D metabolism	8309	ACOX2	OMIM:617308
HP:0100511	Abnormality of vitamin D metabolism	1497	CTNS	ORPHA:411634
HP:0100511	Abnormality of vitamin D metabolism	7390	UROS	ORPHA:79277
HP:0100511	Abnormality of vitamin D metabolism	2623	GATA1	ORPHA:79277
HP:0100511	Abnormality of vitamin D metabolism	6204	RPS10	OMIM:613308
HP:0100511	Abnormality of vitamin D metabolism	4952	OCRL	ORPHA:534
HP:0100511	Abnormality of vitamin D metabolism	199221	DZIP1L	ORPHA:731
HP:0100511	Abnormality of vitamin D metabolism	5314	PKHD1	ORPHA:731
HP:0100511	Abnormality of vitamin D metabolism	79631	EFL1	ORPHA:811
HP:0100511	Abnormality of vitamin D metabolism	51119	SBDS	ORPHA:811
HP:0100511	Abnormality of vitamin D metabolism	6729	SRP54	ORPHA:811
HP:0100511	Abnormality of vitamin D metabolism	2542	SLC37A4	ORPHA:79259
HP:0100512	Low levels of vitamin D	2592	GALT	ORPHA:79239
HP:0100512	Low levels of vitamin D	6554	SLC10A1	OMIM:619256
HP:0100512	Low levels of vitamin D	8074	FGF23	ORPHA:89937
HP:0100512	Low levels of vitamin D	2590	GALNT2	OMIM:618885
HP:0100512	Low levels of vitamin D	2859	GPR35	ORPHA:171
HP:0100512	Low levels of vitamin D	10507	SEMA4D	ORPHA:171
HP:0100512	Low levels of vitamin D	4485	MST1	ORPHA:171
HP:0100512	Low levels of vitamin D	6925	TCF4	ORPHA:171
HP:0100512	Low levels of vitamin D	134218	DNAJC21	OMIM:617052
HP:0100512	Low levels of vitamin D	134218	DNAJC21	ORPHA:811
HP:0100512	Low levels of vitamin D	54914	FOCAD	OMIM:619991
HP:0100512	Low levels of vitamin D	6135	RPL11	OMIM:612562
HP:0100512	Low levels of vitamin D	2006	ELN	ORPHA:90348
HP:0100512	Low levels of vitamin D	10516	FBLN5	ORPHA:90348
HP:0100512	Low levels of vitamin D	5832	ALDH18A1	ORPHA:90348
HP:0100512	Low levels of vitamin D	3117	HLA-DQA1	OMIM:212750
HP:0100512	Low levels of vitamin D	3119	HLA-DQB1	OMIM:212750
HP:0100512	Low levels of vitamin D	10056	FARSB	OMIM:613658
HP:0100512	Low levels of vitamin D	5745	PTH1R	OMIM:600002
HP:0100512	Low levels of vitamin D	4547	MTTP	ORPHA:14
HP:0100512	Low levels of vitamin D	123264	SLC51B	OMIM:619481
HP:0100512	Low levels of vitamin D	4312	MMP1	ORPHA:79408
HP:0100512	Low levels of vitamin D	1294	COL7A1	ORPHA:79408
HP:0100512	Low levels of vitamin D	1294	COL7A1	ORPHA:89842
HP:0100512	Low levels of vitamin D	8309	ACOX2	OMIM:617308
HP:0100512	Low levels of vitamin D	1497	CTNS	ORPHA:411634
HP:0100512	Low levels of vitamin D	7390	UROS	ORPHA:79277
HP:0100512	Low levels of vitamin D	2623	GATA1	ORPHA:79277
HP:0100512	Low levels of vitamin D	6204	RPS10	OMIM:613308
HP:0100512	Low levels of vitamin D	4952	OCRL	ORPHA:534
HP:0100512	Low levels of vitamin D	199221	DZIP1L	ORPHA:731
HP:0100512	Low levels of vitamin D	5314	PKHD1	ORPHA:731
HP:0100512	Low levels of vitamin D	79631	EFL1	ORPHA:811
HP:0100512	Low levels of vitamin D	51119	SBDS	ORPHA:811
HP:0100512	Low levels of vitamin D	6729	SRP54	ORPHA:811
HP:0100512	Low levels of vitamin D	2542	SLC37A4	ORPHA:79259
HP:0100513	Low levels of vitamin E	4547	MTTP	ORPHA:14
HP:0100513	Low levels of vitamin E	123264	SLC51B	OMIM:619481
HP:0100513	Low levels of vitamin E	2859	GPR35	ORPHA:171
HP:0100513	Low levels of vitamin E	10507	SEMA4D	ORPHA:171
HP:0100513	Low levels of vitamin E	4485	MST1	ORPHA:171
HP:0100513	Low levels of vitamin E	6925	TCF4	ORPHA:171
HP:0100513	Low levels of vitamin E	134218	DNAJC21	OMIM:617052
HP:0100513	Low levels of vitamin E	134218	DNAJC21	ORPHA:811
HP:0100513	Low levels of vitamin E	54914	FOCAD	OMIM:619991
HP:0100513	Low levels of vitamin E	55532	SLC30A10	ORPHA:309854
HP:0100513	Low levels of vitamin E	57704	GBA2	ORPHA:352641
HP:0100513	Low levels of vitamin E	338	APOB	OMIM:615558
HP:0100513	Low levels of vitamin E	7274	TTPA	OMIM:277460
HP:0100513	Low levels of vitamin E	23600	AMACR	OMIM:214950
HP:0100513	Low levels of vitamin E	199221	DZIP1L	ORPHA:731
HP:0100513	Low levels of vitamin E	5314	PKHD1	ORPHA:731
HP:0100513	Low levels of vitamin E	79631	EFL1	ORPHA:811
HP:0100513	Low levels of vitamin E	51119	SBDS	ORPHA:811
HP:0100513	Low levels of vitamin E	6729	SRP54	ORPHA:811
HP:0100513	Low levels of vitamin E	6718	AKR1D1	ORPHA:79303
HP:0100514	Abnormality of vitamin E metabolism	4547	MTTP	ORPHA:14
HP:0100514	Abnormality of vitamin E metabolism	123264	SLC51B	OMIM:619481
HP:0100514	Abnormality of vitamin E metabolism	2859	GPR35	ORPHA:171
HP:0100514	Abnormality of vitamin E metabolism	10507	SEMA4D	ORPHA:171
HP:0100514	Abnormality of vitamin E metabolism	4485	MST1	ORPHA:171
HP:0100514	Abnormality of vitamin E metabolism	6925	TCF4	ORPHA:171
HP:0100514	Abnormality of vitamin E metabolism	134218	DNAJC21	OMIM:617052
HP:0100514	Abnormality of vitamin E metabolism	134218	DNAJC21	ORPHA:811
HP:0100514	Abnormality of vitamin E metabolism	54914	FOCAD	OMIM:619991
HP:0100514	Abnormality of vitamin E metabolism	55532	SLC30A10	ORPHA:309854
HP:0100514	Abnormality of vitamin E metabolism	57704	GBA2	ORPHA:352641
HP:0100514	Abnormality of vitamin E metabolism	338	APOB	OMIM:615558
HP:0100514	Abnormality of vitamin E metabolism	7274	TTPA	OMIM:277460
HP:0100514	Abnormality of vitamin E metabolism	23600	AMACR	OMIM:214950
HP:0100514	Abnormality of vitamin E metabolism	199221	DZIP1L	ORPHA:731
HP:0100514	Abnormality of vitamin E metabolism	5314	PKHD1	ORPHA:731
HP:0100514	Abnormality of vitamin E metabolism	79631	EFL1	ORPHA:811
HP:0100514	Abnormality of vitamin E metabolism	51119	SBDS	ORPHA:811
HP:0100514	Abnormality of vitamin E metabolism	6729	SRP54	ORPHA:811
HP:0100514	Abnormality of vitamin E metabolism	6718	AKR1D1	ORPHA:79303
HP:0100514	Abnormality of vitamin E metabolism	1581	CYP7A1	ORPHA:209902
HP:0100515	Pollakisuria	8291	DYSF	ORPHA:268
HP:0100515	Pollakisuria	5832	ALDH18A1	ORPHA:447760
HP:0100515	Pollakisuria	5832	ALDH18A1	ORPHA:447753
HP:0100515	Pollakisuria	79152	FA2H	ORPHA:171629
HP:0100515	Pollakisuria	54796	BNC2	OMIM:618612
HP:0100515	Pollakisuria	100996717	NOTCH2NLC	OMIM:618866
HP:0100515	Pollakisuria	4683	NBN	ORPHA:647
HP:0100515	Pollakisuria	112817	HOGA1	ORPHA:93600
HP:0100515	Pollakisuria	2332	FMR1	ORPHA:93256
HP:0100515	Pollakisuria	84188	FAR1	ORPHA:447753
HP:0100517	Neoplasm of the urethra	55612	FERMT1	ORPHA:2908
HP:0100518	Dysuria	7840	ALMS1	ORPHA:64
HP:0100518	Dysuria	3106	HLA-B	ORPHA:36426
HP:0100518	Dysuria	10320	IKZF1	ORPHA:36426
HP:0100518	Dysuria	54796	BNC2	ORPHA:93110
HP:0100518	Dysuria	493856	CISD2	ORPHA:3463
HP:0100518	Dysuria	7466	WFS1	ORPHA:3463
HP:0100518	Dysuria	83550	GPR101	ORPHA:963
HP:0100518	Dysuria	9049	AIP	ORPHA:963
HP:0100518	Dysuria	189	AGXT	ORPHA:93598
HP:0100518	Dysuria	3909	LAMA3	ORPHA:79404
HP:0100518	Dysuria	3918	LAMC2	ORPHA:79404
HP:0100518	Dysuria	3914	LAMB3	ORPHA:79404
HP:0100518	Dysuria	23111	SPART	ORPHA:101000
HP:0100518	Dysuria	146206	CARMIL2	OMIM:618131
HP:0100518	Dysuria	3145	HMBS	OMIM:176000
HP:0100518	Dysuria	3145	HMBS	ORPHA:79276
HP:0100518	Dysuria	3251	HPRT1	ORPHA:79233
HP:0100518	Dysuria	112817	HOGA1	ORPHA:93600
HP:0100518	Dysuria	353	APRT	ORPHA:976
HP:0100519	Anuria	183	AGT	OMIM:267430
HP:0100519	Anuria	5972	REN	OMIM:267430
HP:0100519	Anuria	185	AGTR1	OMIM:267430
HP:0100519	Anuria	1636	ACE	OMIM:267430
HP:0100519	Anuria	4629	MYH11	OMIM:619351
HP:0100519	Anuria	4179	CD46	OMIM:612922
HP:0100519	Anuria	629	CFB	OMIM:612924
HP:0100519	Anuria	3426	CFI	OMIM:612923
HP:0100519	Anuria	7056	THBD	OMIM:612926
HP:0100519	Anuria	3075	CFH	OMIM:235400
HP:0100519	Anuria	3078	CFHR1	OMIM:235400
HP:0100519	Anuria	10878	CFHR3	OMIM:235400
HP:0100519	Anuria	718	C3	OMIM:612925
HP:0008659	Multiple small medullary renal cysts	91147	TMEM67	OMIM:216360
HP:0008659	Multiple small medullary renal cysts	182	JAG1	OMIM:118450
HP:0008659	Multiple small medullary renal cysts	1175	AP2S1	OMIM:600740
HP:0008659	Multiple small medullary renal cysts	5314	PKHD1	OMIM:263200
HP:0004727	Impaired renal concentrating ability	80184	CEP290	OMIM:610188
HP:0004727	Impaired renal concentrating ability	7809	BSND	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	7809	BSND	OMIM:602522
HP:0004727	Impaired renal concentrating ability	1188	CLCNKB	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	1187	CLCNKA	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	54757	FAM20A	ORPHA:1031
HP:0004727	Impaired renal concentrating ability	54757	FAM20A	OMIM:204690
HP:0004727	Impaired renal concentrating ability	4867	NPHP1	OMIM:266900
HP:0005567	Renal magnesium wasting	149461	CLDN19	OMIM:248190
HP:0005567	Renal magnesium wasting	3766	KCNJ10	ORPHA:199343
HP:0005567	Renal magnesium wasting	476	ATP1A1	OMIM:618314
HP:0005567	Renal magnesium wasting	476	ATP1A1	ORPHA:564178
HP:0005567	Renal magnesium wasting	10686	CLDN16	OMIM:248250
HP:0005567	Renal magnesium wasting	6559	SLC12A3	OMIM:263800
HP:0005567	Renal magnesium wasting	486	FXYD2	OMIM:154020
HP:0005567	Renal magnesium wasting	55764	IFT122	OMIM:218330
HP:0005565	Reduced renal corticomedullary differentiation	81	ACTN4	OMIM:603278
HP:0005565	Reduced renal corticomedullary differentiation	7809	BSND	OMIM:602522
HP:0005565	Reduced renal corticomedullary differentiation	26276	VPS33B	OMIM:208085
HP:0005565	Reduced renal corticomedullary differentiation	1186	CLCN7	OMIM:618541
HP:0005565	Reduced renal corticomedullary differentiation	9742	IFT140	OMIM:266920
HP:0005565	Reduced renal corticomedullary differentiation	7289	TULP3	OMIM:619902
HP:0005565	Reduced renal corticomedullary differentiation	199221	DZIP1L	OMIM:617610
HP:0005565	Reduced renal corticomedullary differentiation	199221	DZIP1L	ORPHA:731
HP:0005565	Reduced renal corticomedullary differentiation	80184	CEP290	OMIM:610188
HP:0005565	Reduced renal corticomedullary differentiation	25836	NIPBL	OMIM:122470
HP:0005565	Reduced renal corticomedullary differentiation	51473	DCDC2	ORPHA:84081
HP:0005565	Reduced renal corticomedullary differentiation	91147	TMEM67	ORPHA:84081
HP:0005565	Reduced renal corticomedullary differentiation	8449	DHX16	OMIM:618733
HP:0005565	Reduced renal corticomedullary differentiation	10015	PDCD6IP	OMIM:620047
HP:0005565	Reduced renal corticomedullary differentiation	5314	PKHD1	ORPHA:731
HP:0031416	Abnormal nasal mucus secretion	6720	SREBF1	OMIM:158310
HP:0031416	Abnormal nasal mucus secretion	93233	ODAD1	OMIM:615067
HP:0031416	Abnormal nasal mucus secretion	115399	LRRC56	OMIM:618254
HP:0031416	Abnormal nasal mucus secretion	25981	DNAH1	OMIM:617577
HP:0031416	Abnormal nasal mucus secretion	6335	SCN9A	OMIM:167400
HP:0031416	Abnormal nasal mucus secretion	6392	SDHD	ORPHA:100093
HP:0031416	Abnormal nasal mucus secretion	55036	CCDC40	OMIM:613808
HP:0031416	Abnormal nasal mucus secretion	339829	CCDC39	OMIM:613807
HP:0031417	Rhinorrhea	6720	SREBF1	OMIM:158310
HP:0031417	Rhinorrhea	93233	ODAD1	OMIM:615067
HP:0031417	Rhinorrhea	115399	LRRC56	OMIM:618254
HP:0031417	Rhinorrhea	25981	DNAH1	OMIM:617577
HP:0031417	Rhinorrhea	6335	SCN9A	OMIM:167400
HP:0031417	Rhinorrhea	6392	SDHD	ORPHA:100093
HP:0031417	Rhinorrhea	55036	CCDC40	OMIM:613808
HP:0031417	Rhinorrhea	339829	CCDC39	OMIM:613807
HP:0031418	Increased body mass index	2321	FLT1	ORPHA:275555
HP:0031418	Increased body mass index	219736	STOX1	ORPHA:275555
HP:0031418	Increased body mass index	10699	CORIN	ORPHA:275555
HP:0031418	Increased body mass index	57187	THOC2	OMIM:300957
HP:0031418	Increased body mass index	7067	THRA	OMIM:614450
HP:0031411	Abnormal chromosome morphology	7298	TYMS	OMIM:620040
HP:0031411	Abnormal chromosome morphology	26277	TINF2	OMIM:268130
HP:0031411	Abnormal chromosome morphology	26277	TINF2	OMIM:613990
HP:0031411	Abnormal chromosome morphology	51750	RTEL1	OMIM:616373
HP:0031411	Abnormal chromosome morphology	55596	ZCCHC8	OMIM:618674
HP:0031411	Abnormal chromosome morphology	5073	PARN	OMIM:616371
HP:0031411	Abnormal chromosome morphology	5073	PARN	OMIM:616353
HP:0031411	Abnormal chromosome morphology	134218	DNAJC21	OMIM:617052
HP:0031411	Abnormal chromosome morphology	65057	ACD	OMIM:616553
HP:0031411	Abnormal chromosome morphology	7157	TP53	OMIM:618165
HP:0031411	Abnormal chromosome morphology	25913	POT1	OMIM:616568
HP:0031411	Abnormal chromosome morphology	7015	TERT	OMIM:614742
HP:0031411	Abnormal chromosome morphology	4194	MDM4	OMIM:618849
HP:0031411	Abnormal chromosome morphology	6117	RPA1	OMIM:619767
HP:0031411	Abnormal chromosome morphology	55135	WRAP53	OMIM:613988
HP:0031412	Abnormal telomere morphology	7298	TYMS	OMIM:620040
HP:0031412	Abnormal telomere morphology	26277	TINF2	OMIM:268130
HP:0031412	Abnormal telomere morphology	26277	TINF2	OMIM:613990
HP:0031412	Abnormal telomere morphology	51750	RTEL1	OMIM:616373
HP:0031412	Abnormal telomere morphology	55596	ZCCHC8	OMIM:618674
HP:0031412	Abnormal telomere morphology	5073	PARN	OMIM:616371
HP:0031412	Abnormal telomere morphology	5073	PARN	OMIM:616353
HP:0031412	Abnormal telomere morphology	134218	DNAJC21	OMIM:617052
HP:0031412	Abnormal telomere morphology	65057	ACD	OMIM:616553
HP:0031412	Abnormal telomere morphology	7157	TP53	OMIM:618165
HP:0031412	Abnormal telomere morphology	25913	POT1	OMIM:616568
HP:0031412	Abnormal telomere morphology	7015	TERT	OMIM:614742
HP:0031412	Abnormal telomere morphology	4194	MDM4	OMIM:618849
HP:0031412	Abnormal telomere morphology	6117	RPA1	OMIM:619767
HP:0031412	Abnormal telomere morphology	55135	WRAP53	OMIM:613988
HP:0031413	Short telomere length	7298	TYMS	OMIM:620040
HP:0031413	Short telomere length	26277	TINF2	OMIM:268130
HP:0031413	Short telomere length	26277	TINF2	OMIM:613990
HP:0031413	Short telomere length	51750	RTEL1	OMIM:616373
HP:0031413	Short telomere length	55596	ZCCHC8	OMIM:618674
HP:0031413	Short telomere length	5073	PARN	OMIM:616371
HP:0031413	Short telomere length	5073	PARN	OMIM:616353
HP:0031413	Short telomere length	134218	DNAJC21	OMIM:617052
HP:0031413	Short telomere length	65057	ACD	OMIM:616553
HP:0031413	Short telomere length	7157	TP53	OMIM:618165
HP:0031413	Short telomere length	25913	POT1	OMIM:616568
HP:0031413	Short telomere length	7015	TERT	OMIM:614742
HP:0031413	Short telomere length	4194	MDM4	OMIM:618849
HP:0031413	Short telomere length	6117	RPA1	OMIM:619767
HP:0031413	Short telomere length	55135	WRAP53	OMIM:613988
HP:0031414	High serum calcifediol	142680	SLC34A3	OMIM:241530
HP:0031415	High serum calcitriol	7421	VDR	OMIM:277440
HP:0031415	High serum calcitriol	6569	SLC34A1	OMIM:613388
HP:0031415	High serum calcitriol	6569	SLC34A1	ORPHA:157215
HP:0031415	High serum calcitriol	2591	GALNT3	OMIM:211900
HP:0031415	High serum calcitriol	142680	SLC34A3	ORPHA:157215
HP:0031415	High serum calcitriol	142680	SLC34A3	OMIM:241530
HP:0031415	High serum calcitriol	1184	CLCN5	OMIM:300554
HP:0031415	High serum calcitriol	1184	CLCN5	OMIM:300009
HP:0031415	High serum calcitriol	9365	KL	OMIM:617994
HP:0005571	Increased renal tubular phosphate reabsorption	2591	GALNT3	OMIM:211900
HP:0005572	Decreased renal tubular phosphate excretion	2591	GALNT3	OMIM:211900
HP:0005574	Non-acidotic proximal tubulopathy	4036	LRP2	OMIM:222448
HP:0100520	Oliguria	5076	PAX2	ORPHA:97362
HP:0100520	Oliguria	5087	PBX1	ORPHA:97362
HP:0100520	Oliguria	116085	SLC22A12	OMIM:220150
HP:0100520	Oliguria	353	APRT	OMIM:614723
HP:0100520	Oliguria	353	APRT	ORPHA:976
HP:0100520	Oliguria	1235	CCR6	ORPHA:220393
HP:0100520	Oliguria	1490	CCN2	ORPHA:220393
HP:0100520	Oliguria	3663	IRF5	ORPHA:220393
HP:0100520	Oliguria	857	CAV1	ORPHA:220393
HP:0100520	Oliguria	3123	HLA-DRB1	ORPHA:220393
HP:0100520	Oliguria	23175	LPIN1	ORPHA:99845
HP:0100520	Oliguria	4512	MT-CO1	ORPHA:99845
HP:0100520	Oliguria	4514	MT-CO3	ORPHA:99845
HP:0100520	Oliguria	6261	RYR1	ORPHA:466650
HP:0100520	Oliguria	788	SLC25A20	ORPHA:159
HP:0100520	Oliguria	199221	DZIP1L	ORPHA:731
HP:0100520	Oliguria	5314	PKHD1	ORPHA:731
HP:0100521	Neoplasm of the thymus	5728	PTEN	ORPHA:744
HP:0100521	Neoplasm of the thymus	207	AKT1	ORPHA:744
HP:0100521	Neoplasm of the thymus	4221	MEN1	ORPHA:652
HP:0100521	Neoplasm of the thymus	1027	CDKN1B	ORPHA:652
HP:0100521	Neoplasm of the thymus	1027	CDKN1B	ORPHA:276152
HP:0100521	Neoplasm of the thymus	1026	CDKN1A	ORPHA:652
HP:0100521	Neoplasm of the thymus	1030	CDKN2B	ORPHA:652
HP:0100521	Neoplasm of the thymus	1031	CDKN2C	ORPHA:652
HP:0100522	Thymoma	4221	MEN1	ORPHA:652
HP:0100522	Thymoma	1027	CDKN1B	ORPHA:652
HP:0100522	Thymoma	1027	CDKN1B	ORPHA:276152
HP:0100522	Thymoma	1026	CDKN1A	ORPHA:652
HP:0100522	Thymoma	1030	CDKN2B	ORPHA:652
HP:0100522	Thymoma	1031	CDKN2C	ORPHA:652
HP:0100523	Liver abscess	1536	CYBB	OMIM:306400
HP:0100523	Liver abscess	1536	CYBB	ORPHA:379
HP:0100523	Liver abscess	5244	ABCB4	ORPHA:69663
HP:0100523	Liver abscess	4688	NCF2	OMIM:233710
HP:0100523	Liver abscess	4688	NCF2	ORPHA:379
HP:0100523	Liver abscess	653361	NCF1	OMIM:233700
HP:0100523	Liver abscess	653361	NCF1	ORPHA:379
HP:0100523	Liver abscess	1535	CYBA	OMIM:233690
HP:0100523	Liver abscess	1535	CYBA	ORPHA:379
HP:0100523	Liver abscess	51135	IRAK4	OMIM:607676
HP:0100523	Liver abscess	3514	IGKC	ORPHA:183675
HP:0100523	Liver abscess	3501	IGHG2	ORPHA:183675
HP:0100523	Liver abscess	4689	NCF4	ORPHA:379
HP:0100523	Liver abscess	79415	CYBC1	ORPHA:379
HP:0100523	Liver abscess	5314	PKHD1	ORPHA:53035
HP:0100523	Liver abscess	1075	CTSC	ORPHA:678
HP:0100524	Limb duplication	64327	LMBR1	ORPHA:2378
HP:0100525	Urachus fistula	92579	G6PC3	OMIM:612541
HP:0100526	Neoplasm of the lung	6440	SFTPC	OMIM:178500
HP:0100526	Neoplasm of the lung	727897	MUC5B	OMIM:178500
HP:0100526	Neoplasm of the lung	729238	SFTPA2	OMIM:178500
HP:0100526	Neoplasm of the lung	7015	TERT	OMIM:178500
HP:0100526	Neoplasm of the lung	1288	COL4A6	ORPHA:1018
HP:0100526	Neoplasm of the lung	1287	COL4A5	ORPHA:1018
HP:0100526	Neoplasm of the lung	7249	TSC2	OMIM:613254
HP:0100526	Neoplasm of the lung	7249	TSC2	ORPHA:805
HP:0100526	Neoplasm of the lung	7249	TSC2	ORPHA:538
HP:0100526	Neoplasm of the lung	7249	TSC2	OMIM:606690
HP:0100526	Neoplasm of the lung	3458	IFNG	OMIM:613254
HP:0100526	Neoplasm of the lung	3458	IFNG	ORPHA:805
HP:0100526	Neoplasm of the lung	7248	TSC1	ORPHA:805
HP:0100526	Neoplasm of the lung	7248	TSC1	OMIM:191100
HP:0100526	Neoplasm of the lung	7248	TSC1	ORPHA:538
HP:0100526	Neoplasm of the lung	7248	TSC1	OMIM:606690
HP:0100526	Neoplasm of the lung	7157	TP53	OMIM:151623
HP:0100526	Neoplasm of the lung	7157	TP53	ORPHA:1501
HP:0100526	Neoplasm of the lung	137682	NDUFAF6	OMIM:618913
HP:0100526	Neoplasm of the lung	8314	BAP1	OMIM:614327
HP:0100526	Neoplasm of the lung	84133	ZNRF3	ORPHA:1501
HP:0100526	Neoplasm of the lung	5573	PRKAR1A	ORPHA:1501
HP:0100526	Neoplasm of the lung	1499	CTNNB1	ORPHA:1501
HP:0100526	Neoplasm of the lung	1029	CDKN2A	ORPHA:1501
HP:0100526	Neoplasm of the lung	64324	NSD1	ORPHA:821
HP:0100526	Neoplasm of the lung	29072	SETD2	ORPHA:821
HP:0100526	Neoplasm of the lung	10297	APC2	ORPHA:821
HP:0100526	Neoplasm of the lung	161742	SPRED1	ORPHA:137605
HP:0100526	Neoplasm of the lung	5071	PRKN	OMIM:211980
HP:0100526	Neoplasm of the lung	3845	KRAS	OMIM:211980
HP:0100526	Neoplasm of the lung	3659	IRF1	OMIM:211980
HP:0100526	Neoplasm of the lung	5002	SLC22A18	OMIM:211980
HP:0100526	Neoplasm of the lung	2074	ERCC6	OMIM:211980
HP:0100526	Neoplasm of the lung	5290	PIK3CA	OMIM:211980
HP:0100526	Neoplasm of the lung	1956	EGFR	OMIM:211980
HP:0100526	Neoplasm of the lung	1548	CYP2A6	OMIM:211980
HP:0100526	Neoplasm of the lung	2064	ERBB2	OMIM:211980
HP:0100526	Neoplasm of the lung	356	FASLG	OMIM:211980
HP:0100526	Neoplasm of the lung	5519	PPP2R1B	OMIM:211980
HP:0100526	Neoplasm of the lung	841	CASP8	OMIM:211980
HP:0100526	Neoplasm of the lung	1326	MAP3K8	OMIM:211980
HP:0100526	Neoplasm of the lung	673	BRAF	OMIM:211980
HP:0100526	Neoplasm of the lung	4854	NOTCH3	ORPHA:2591
HP:0100526	Neoplasm of the lung	5159	PDGFRB	ORPHA:2591
HP:0100526	Neoplasm of the lung	25913	POT1	OMIM:616568
HP:0100526	Neoplasm of the lung	7486	WRN	ORPHA:902
HP:0100526	Neoplasm of the lung	3248	HPGD	ORPHA:2796
HP:0100526	Neoplasm of the lung	6578	SLCO2A1	ORPHA:2796
HP:0100526	Neoplasm of the lung	7373	COL14A1	ORPHA:79501
HP:0100526	Neoplasm of the lung	79719	AAGAB	ORPHA:79501
HP:0100526	Neoplasm of the lung	5728	PTEN	ORPHA:744
HP:0100526	Neoplasm of the lung	207	AKT1	ORPHA:744
HP:0100526	Neoplasm of the lung	4193	MDM2	ORPHA:524
HP:0100526	Neoplasm of the lung	11200	CHEK2	ORPHA:524
HP:0100526	Neoplasm of the lung	2130	EWSR1	ORPHA:83469
HP:0100526	Neoplasm of the lung	7490	WT1	ORPHA:83469
HP:0100526	Neoplasm of the lung	7490	WT1	ORPHA:654
HP:0100526	Neoplasm of the lung	5925	RB1	OMIM:182280
HP:0100526	Neoplasm of the lung	65998	ZFTA	ORPHA:251636
HP:0100526	Neoplasm of the lung	5970	RELA	ORPHA:251636
HP:0100526	Neoplasm of the lung	4665	NAB2	ORPHA:2126
HP:0100526	Neoplasm of the lung	6778	STAT6	ORPHA:2126
HP:0100526	Neoplasm of the lung	6794	STK11	ORPHA:2869
HP:0100526	Neoplasm of the lung	51360	MBTPS2	ORPHA:659
HP:0100526	Neoplasm of the lung	162514	TRPV3	ORPHA:659
HP:0100526	Neoplasm of the lung	64065	PERP	ORPHA:659
HP:0100526	Neoplasm of the lung	4000	LMNA	ORPHA:79474
HP:0100526	Neoplasm of the lung	5978	REST	ORPHA:654
HP:0100526	Neoplasm of the lung	129563	DIS3L2	ORPHA:654
HP:0100526	Neoplasm of the lung	675	BRCA2	ORPHA:654
HP:0100526	Neoplasm of the lung	9319	TRIP13	ORPHA:654
HP:0100526	Neoplasm of the lung	10155	TRIM28	ORPHA:654
HP:0100526	Neoplasm of the lung	11281	POU6F2	ORPHA:654
HP:0100526	Neoplasm of the lung	2719	GPC3	ORPHA:654
HP:0100526	Neoplasm of the lung	283120	H19	ORPHA:654
HP:0100526	Neoplasm of the lung	23405	DICER1	OMIM:601200
HP:0100526	Neoplasm of the lung	23405	DICER1	OMIM:180295
HP:0100526	Neoplasm of the lung	23405	DICER1	ORPHA:276399
HP:0100526	Neoplasm of the lung	9817	KEAP1	ORPHA:276399
HP:0100527	Neoplasia of the pleura	4665	NAB2	ORPHA:2126
HP:0100527	Neoplasia of the pleura	6778	STAT6	ORPHA:2126
HP:0100527	Neoplasia of the pleura	23405	DICER1	OMIM:601200
HP:0100527	Neoplasia of the pleura	23405	DICER1	OMIM:180295
HP:0100527	Neoplasia of the pleura	23405	DICER1	ORPHA:276399
HP:0100527	Neoplasia of the pleura	9817	KEAP1	ORPHA:276399
HP:0100528	Pleuropulmonary blastoma	23405	DICER1	OMIM:601200
HP:0100528	Pleuropulmonary blastoma	23405	DICER1	OMIM:180295
HP:0100528	Pleuropulmonary blastoma	23405	DICER1	ORPHA:276399
HP:0100528	Pleuropulmonary blastoma	9817	KEAP1	ORPHA:276399
HP:0100529	Abnormal blood phosphate concentration	1576	CYP3A4	OMIM:619073
HP:0100529	Abnormal blood phosphate concentration	7421	VDR	ORPHA:93160
HP:0100529	Abnormal blood phosphate concentration	7421	VDR	OMIM:277440
HP:0100529	Abnormal blood phosphate concentration	4952	OCRL	OMIM:300555
HP:0100529	Abnormal blood phosphate concentration	4952	OCRL	ORPHA:534
HP:0100529	Abnormal blood phosphate concentration	229	ALDOB	OMIM:229600
HP:0100529	Abnormal blood phosphate concentration	229	ALDOB	ORPHA:469
HP:0100529	Abnormal blood phosphate concentration	1594	CYP27B1	ORPHA:289157
HP:0100529	Abnormal blood phosphate concentration	1594	CYP27B1	OMIM:264700
HP:0100529	Abnormal blood phosphate concentration	120227	CYP2R1	ORPHA:289157
HP:0100529	Abnormal blood phosphate concentration	120227	CYP2R1	OMIM:600081
HP:0100529	Abnormal blood phosphate concentration	9368	NHERF1	OMIM:612287
HP:0100529	Abnormal blood phosphate concentration	10312	TCIRG1	ORPHA:667
HP:0100529	Abnormal blood phosphate concentration	1186	CLCN7	ORPHA:667
HP:0100529	Abnormal blood phosphate concentration	29887	SNX10	ORPHA:667
HP:0100529	Abnormal blood phosphate concentration	8600	TNFSF11	ORPHA:667
HP:0100529	Abnormal blood phosphate concentration	79577	CDC73	ORPHA:143
HP:0100529	Abnormal blood phosphate concentration	79577	CDC73	ORPHA:99880
HP:0100529	Abnormal blood phosphate concentration	79577	CDC73	ORPHA:99879
HP:0100529	Abnormal blood phosphate concentration	3636	INPPL1	OMIM:258480
HP:0100529	Abnormal blood phosphate concentration	6514	SLC2A2	OMIM:227810
HP:0100529	Abnormal blood phosphate concentration	6514	SLC2A2	ORPHA:2088
HP:0100529	Abnormal blood phosphate concentration	56975	FAM20C	OMIM:259775
HP:0100529	Abnormal blood phosphate concentration	5745	PTH1R	OMIM:156400
HP:0100529	Abnormal blood phosphate concentration	1285	COL4A3	OMIM:104200
HP:0100529	Abnormal blood phosphate concentration	4221	MEN1	ORPHA:99879
HP:0100529	Abnormal blood phosphate concentration	1175	AP2S1	OMIM:600740
HP:0100529	Abnormal blood phosphate concentration	9247	GCM2	OMIM:618883
HP:0100529	Abnormal blood phosphate concentration	9247	GCM2	ORPHA:2239
HP:0100529	Abnormal blood phosphate concentration	9365	KL	OMIM:617994
HP:0100529	Abnormal blood phosphate concentration	6905	TBCE	OMIM:241410
HP:0100529	Abnormal blood phosphate concentration	6905	TBCE	ORPHA:2323
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	OMIM:612462
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	ORPHA:94089
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	ORPHA:79443
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	ORPHA:79444
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	ORPHA:79445
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	OMIM:603233
HP:0100529	Abnormal blood phosphate concentration	2778	GNAS	OMIM:103580
HP:0100529	Abnormal blood phosphate concentration	5741	PTH	OMIM:146200
HP:0100529	Abnormal blood phosphate concentration	2591	GALNT3	OMIM:211900
HP:0100529	Abnormal blood phosphate concentration	2767	GNA11	ORPHA:428
HP:0100529	Abnormal blood phosphate concentration	846	CASR	ORPHA:428
HP:0100529	Abnormal blood phosphate concentration	846	CASR	OMIM:601198
HP:0100529	Abnormal blood phosphate concentration	6261	RYR1	ORPHA:466650
HP:0100529	Abnormal blood phosphate concentration	6261	RYR1	ORPHA:423
HP:0100529	Abnormal blood phosphate concentration	6261	RYR1	OMIM:145600
HP:0100529	Abnormal blood phosphate concentration	8675	STX16	ORPHA:94089
HP:0100529	Abnormal blood phosphate concentration	8675	STX16	OMIM:603233
HP:0100529	Abnormal blood phosphate concentration	5573	PRKAR1A	ORPHA:280651
HP:0100529	Abnormal blood phosphate concentration	5573	PRKAR1A	OMIM:101800
HP:0100529	Abnormal blood phosphate concentration	5144	PDE4D	ORPHA:280651
HP:0100529	Abnormal blood phosphate concentration	4982	TNFRSF11B	OMIM:239000
HP:0100529	Abnormal blood phosphate concentration	149775	GNAS-AS1	OMIM:603233
HP:0100529	Abnormal blood phosphate concentration	23175	LPIN1	ORPHA:99845
HP:0100529	Abnormal blood phosphate concentration	4512	MT-CO1	ORPHA:99845
HP:0100529	Abnormal blood phosphate concentration	4514	MT-CO3	ORPHA:99845
HP:0100529	Abnormal blood phosphate concentration	5251	PHEX	OMIM:307800
HP:0100529	Abnormal blood phosphate concentration	1497	CTNS	OMIM:219800
HP:0100529	Abnormal blood phosphate concentration	3172	HNF4A	ORPHA:263455
HP:0100529	Abnormal blood phosphate concentration	142680	SLC34A3	ORPHA:157215
HP:0100529	Abnormal blood phosphate concentration	142680	SLC34A3	OMIM:241530
HP:0100529	Abnormal blood phosphate concentration	6569	SLC34A1	ORPHA:157215
HP:0100529	Abnormal blood phosphate concentration	6569	SLC34A1	ORPHA:3337
HP:0100529	Abnormal blood phosphate concentration	1184	CLCN5	OMIM:300554
HP:0100529	Abnormal blood phosphate concentration	5442	POLRMT	OMIM:619743
HP:0100529	Abnormal blood phosphate concentration	368	ABCC6	OMIM:614473
HP:0100529	Abnormal blood phosphate concentration	368	ABCC6	ORPHA:51608
HP:0100529	Abnormal blood phosphate concentration	137682	NDUFAF6	OMIM:618913
HP:0100529	Abnormal blood phosphate concentration	137682	NDUFAF6	ORPHA:3337
HP:0100529	Abnormal blood phosphate concentration	4665	NAB2	ORPHA:2126
HP:0100529	Abnormal blood phosphate concentration	6778	STAT6	ORPHA:2126
HP:0100529	Abnormal blood phosphate concentration	8074	FGF23	OMIM:193100
HP:0100529	Abnormal blood phosphate concentration	2184	FAH	OMIM:276700
HP:0100529	Abnormal blood phosphate concentration	3845	KRAS	OMIM:163200
HP:0100529	Abnormal blood phosphate concentration	4893	NRAS	OMIM:163200
HP:0100529	Abnormal blood phosphate concentration	3265	HRAS	OMIM:163200
HP:0100529	Abnormal blood phosphate concentration	3265	HRAS	ORPHA:2874
HP:0100529	Abnormal blood phosphate concentration	1962	EHHADH	ORPHA:3337
HP:0100529	Abnormal blood phosphate concentration	2628	GATM	ORPHA:3337
HP:0100529	Abnormal blood phosphate concentration	63901	FAM111A	OMIM:127000
HP:0100529	Abnormal blood phosphate concentration	100134444	KCNJ18	ORPHA:79102
HP:0100529	Abnormal blood phosphate concentration	2556	GABRA3	ORPHA:79102
HP:0100529	Abnormal blood phosphate concentration	779	CACNA1S	ORPHA:79102
HP:0100529	Abnormal blood phosphate concentration	1758	DMP1	ORPHA:289176
HP:0100529	Abnormal blood phosphate concentration	249	ALPL	OMIM:241500
HP:0100529	Abnormal blood phosphate concentration	249	ALPL	OMIM:241510
HP:0100529	Abnormal blood phosphate concentration	5167	ENPP1	OMIM:615522
HP:0100529	Abnormal blood phosphate concentration	54809	SAMD9	OMIM:610455
HP:0100529	Abnormal blood phosphate concentration	79879	CCDC134	OMIM:619795
HP:0100529	Abnormal blood phosphate concentration	10568	SLC34A2	ORPHA:60025
HP:0005579	Impaired renal ltubular reabsorption of chloride	1188	CLCNKB	OMIM:607364
HP:0000092	Renal tubular atrophy	7369	UMOD	OMIM:162000
HP:0000092	Renal tubular atrophy	23322	RPGRIP1L	OMIM:619113
HP:0000092	Renal tubular atrophy	5972	REN	OMIM:613092
HP:0000092	Renal tubular atrophy	91147	TMEM67	OMIM:613550
HP:0000092	Renal tubular atrophy	63929	XPNPEP3	OMIM:613159
HP:0000092	Renal tubular atrophy	84662	GLIS2	OMIM:611498
HP:0000092	Renal tubular atrophy	57122	NUP107	OMIM:618348
HP:0000092	Renal tubular atrophy	57122	NUP107	OMIM:616730
HP:0000092	Renal tubular atrophy	55746	NUP133	OMIM:618349
HP:0000092	Renal tubular atrophy	1184	CLCN5	OMIM:310468
HP:0000092	Renal tubular atrophy	1184	CLCN5	OMIM:308990
HP:0000092	Renal tubular atrophy	3675	ITGA3	OMIM:614748
HP:0000092	Renal tubular atrophy	261734	NPHP4	OMIM:606966
HP:0000092	Renal tubular atrophy	26276	VPS33B	OMIM:208085
HP:0000092	Renal tubular atrophy	4643	MYO1E	OMIM:614131
HP:0000092	Renal tubular atrophy	65082	VPS33A	OMIM:617303
HP:0000092	Renal tubular atrophy	51134	CEP83	OMIM:615862
HP:0000092	Renal tubular atrophy	4582	MUC1	OMIM:174000
HP:0000092	Renal tubular atrophy	27031	NPHP3	OMIM:604387
HP:0000092	Renal tubular atrophy	4867	NPHP1	OMIM:256100
HP:0000092	Renal tubular atrophy	4868	NPHS1	OMIM:256300
HP:0005583	Tubular basement membrane disintegration	63929	XPNPEP3	OMIM:613159
HP:0005583	Tubular basement membrane disintegration	4582	MUC1	OMIM:174000
HP:0005583	Tubular basement membrane disintegration	4867	NPHP1	OMIM:256100
HP:0005583	Tubular basement membrane disintegration	91147	TMEM67	OMIM:613550
HP:0005576	Tubulointerstitial fibrosis	261734	NPHP4	OMIM:606966
HP:0005576	Tubulointerstitial fibrosis	54	ACP5	OMIM:607944
HP:0005576	Tubulointerstitial fibrosis	7809	BSND	OMIM:602522
HP:0005576	Tubulointerstitial fibrosis	4867	NPHP1	OMIM:266900
HP:0005576	Tubulointerstitial fibrosis	4867	NPHP1	OMIM:256100
HP:0005576	Tubulointerstitial fibrosis	5972	REN	OMIM:613092
HP:0005576	Tubulointerstitial fibrosis	5800	PTPRO	OMIM:614196
HP:0005576	Tubulointerstitial fibrosis	5314	PKHD1	OMIM:263200
HP:0005576	Tubulointerstitial fibrosis	137682	NDUFAF6	OMIM:618913
HP:0005576	Tubulointerstitial fibrosis	2632	GBE1	OMIM:232500
HP:0005576	Tubulointerstitial fibrosis	84168	ANTXR1	OMIM:230740
HP:0005576	Tubulointerstitial fibrosis	4582	MUC1	OMIM:174000
HP:0005576	Tubulointerstitial fibrosis	1184	CLCN5	OMIM:310468
HP:0005576	Tubulointerstitial fibrosis	27031	NPHP3	OMIM:604387
HP:0005576	Tubulointerstitial fibrosis	2542	SLC37A4	ORPHA:79259
HP:0005575	Hemolytic-uremic syndrome	57169	ZNFX1	OMIM:619644
HP:0005575	Hemolytic-uremic syndrome	4552	MTRR	ORPHA:2169
HP:0005575	Hemolytic-uremic syndrome	25974	MMACHC	ORPHA:79282
HP:0005575	Hemolytic-uremic syndrome	25974	MMACHC	OMIM:277400
HP:0005575	Hemolytic-uremic syndrome	8526	DGKE	OMIM:615008
HP:0005575	Hemolytic-uremic syndrome	11093	ADAMTS13	OMIM:274150
HP:0005575	Hemolytic-uremic syndrome	55858	TMEM165	OMIM:614727
HP:0005575	Hemolytic-uremic syndrome	4179	CD46	OMIM:612922
HP:0005575	Hemolytic-uremic syndrome	629	CFB	OMIM:612924
HP:0005575	Hemolytic-uremic syndrome	3426	CFI	OMIM:612923
HP:0005575	Hemolytic-uremic syndrome	9382	COG1	OMIM:611209
HP:0005575	Hemolytic-uremic syndrome	7056	THBD	OMIM:612926
HP:0005575	Hemolytic-uremic syndrome	3075	CFH	OMIM:235400
HP:0005575	Hemolytic-uremic syndrome	3078	CFHR1	OMIM:235400
HP:0005575	Hemolytic-uremic syndrome	10878	CFHR3	OMIM:235400
HP:0005575	Hemolytic-uremic syndrome	5052	PRDX1	OMIM:277400
HP:0005575	Hemolytic-uremic syndrome	718	C3	OMIM:612925
HP:0031427	Abnormal circulating osteocalcin level	2335	FN1	ORPHA:93315
HP:0031427	Abnormal circulating osteocalcin level	1280	COL2A1	ORPHA:93315
HP:0031427	Abnormal circulating osteocalcin level	54757	FAM20A	ORPHA:1031
HP:0031427	Abnormal circulating osteocalcin level	142680	SLC34A3	ORPHA:157215
HP:0031427	Abnormal circulating osteocalcin level	6569	SLC34A1	ORPHA:157215
HP:0031427	Abnormal circulating osteocalcin level	2099	ESR1	OMIM:615363
HP:0031427	Abnormal circulating osteocalcin level	551	AVP	OMIM:125700
HP:0031427	Abnormal circulating osteocalcin level	79879	CCDC134	OMIM:619795
HP:0031428	Increased circulating osteocalcin level	54757	FAM20A	ORPHA:1031
HP:0031428	Increased circulating osteocalcin level	142680	SLC34A3	ORPHA:157215
HP:0031428	Increased circulating osteocalcin level	6569	SLC34A1	ORPHA:157215
HP:0031428	Increased circulating osteocalcin level	2099	ESR1	OMIM:615363
HP:0031429	Decreased circulating osteocalcin level	551	AVP	OMIM:125700
HP:0031429	Decreased circulating osteocalcin level	79879	CCDC134	OMIM:619795
HP:0031422	Abnormal cerebellar cortex morphology	87178	PNPT1	ORPHA:101111
HP:0031422	Abnormal cerebellar cortex morphology	5428	POLG	ORPHA:70595
HP:0031422	Abnormal cerebellar cortex morphology	56652	TWNK	ORPHA:70595
HP:0031422	Abnormal cerebellar cortex morphology	526	ATP6V1B2	ORPHA:79500
HP:0031422	Abnormal cerebellar cortex morphology	57465	TBC1D24	ORPHA:79500
HP:0031423	Small cerebellar cortex	526	ATP6V1B2	ORPHA:79500
HP:0031423	Small cerebellar cortex	57465	TBC1D24	ORPHA:79500
HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration	4882	NPR2	OMIM:615923
HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration	142680	SLC34A3	ORPHA:157215
HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration	6569	SLC34A1	ORPHA:157215
HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	142680	SLC34A3	ORPHA:157215
HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	6569	SLC34A1	ORPHA:157215
HP:0005580	Duplication of renal pelvis	284252	KCTD1	ORPHA:2036
HP:0005580	Duplication of renal pelvis	2719	GPC3	OMIM:312870
HP:0005580	Duplication of renal pelvis	2239	GPC4	OMIM:312870
HP:0005580	Duplication of renal pelvis	9839	ZEB2	ORPHA:261552
HP:0005580	Duplication of renal pelvis	388662	SLC6A17	ORPHA:457212
HP:0100957	Abnormal renal medulla morphology	55112	DYNC2I1	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	26160	IFT172	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	26160	IFT172	OMIM:615630
HP:0100957	Abnormal renal medulla morphology	153241	CEP120	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	57560	IFT80	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	51626	DYNC2LI1	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	79659	DYNC2H1	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	57728	WDR19	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	57728	WDR19	OMIM:616307
HP:0100957	Abnormal renal medulla morphology	57728	WDR19	OMIM:614377
HP:0100957	Abnormal renal medulla morphology	57728	WDR19	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	89891	DYNC2I2	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	79809	TTC21B	ORPHA:474
HP:0100957	Abnormal renal medulla morphology	79809	TTC21B	OMIM:613820
HP:0100957	Abnormal renal medulla morphology	261734	NPHP4	OMIM:606996
HP:0100957	Abnormal renal medulla morphology	261734	NPHP4	OMIM:606966
HP:0100957	Abnormal renal medulla morphology	261734	NPHP4	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	23005	MAPKBP1	OMIM:617271
HP:0100957	Abnormal renal medulla morphology	23322	RPGRIP1L	OMIM:619113
HP:0100957	Abnormal renal medulla morphology	23322	RPGRIP1L	OMIM:611560
HP:0100957	Abnormal renal medulla morphology	95681	CEP41	OMIM:614464
HP:0100957	Abnormal renal medulla morphology	51524	TMEM138	OMIM:614465
HP:0100957	Abnormal renal medulla morphology	23090	ZNF423	OMIM:614844
HP:0100957	Abnormal renal medulla morphology	63929	XPNPEP3	OMIM:613159
HP:0100957	Abnormal renal medulla morphology	22897	CEP164	OMIM:614845
HP:0100957	Abnormal renal medulla morphology	22897	CEP164	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	84662	GLIS2	OMIM:611498
HP:0100957	Abnormal renal medulla morphology	51259	TMEM216	OMIM:608091
HP:0100957	Abnormal renal medulla morphology	10806	SDCCAG8	OMIM:613615
HP:0100957	Abnormal renal medulla morphology	10806	SDCCAG8	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	26146	TRAF3IP1	OMIM:616629
HP:0100957	Abnormal renal medulla morphology	26146	TRAF3IP1	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	54806	AHI1	OMIM:608629
HP:0100957	Abnormal renal medulla morphology	203286	ANKS6	OMIM:615382
HP:0100957	Abnormal renal medulla morphology	9321	TRIP11	OMIM:184260
HP:0100957	Abnormal renal medulla morphology	112752	IFT43	OMIM:614099
HP:0100957	Abnormal renal medulla morphology	51134	CEP83	OMIM:615862
HP:0100957	Abnormal renal medulla morphology	284086	NEK8	OMIM:613824
HP:0100957	Abnormal renal medulla morphology	9657	IQCB1	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	9657	IQCB1	OMIM:609254
HP:0100957	Abnormal renal medulla morphology	27031	NPHP3	ORPHA:3156
HP:0100957	Abnormal renal medulla morphology	27031	NPHP3	OMIM:604387
HP:0100957	Abnormal renal medulla morphology	22909	FAN1	OMIM:614817
HP:0100957	Abnormal renal medulla morphology	286204	CRB2	OMIM:219730
HP:0100957	Abnormal renal medulla morphology	4582	MUC1	OMIM:174000
HP:0100957	Abnormal renal medulla morphology	7249	TSC2	OMIM:613254
HP:0100957	Abnormal renal medulla morphology	3458	IFNG	OMIM:613254
HP:0100957	Abnormal renal medulla morphology	8364	H4C3	OMIM:619758
HP:0100957	Abnormal renal medulla morphology	27130	INVS	OMIM:602088
HP:0100957	Abnormal renal medulla morphology	5087	PBX1	OMIM:617641
HP:0100957	Abnormal renal medulla morphology	5076	PAX2	OMIM:120330
HP:0100957	Abnormal renal medulla morphology	81	ACTN4	OMIM:603278
HP:0100957	Abnormal renal medulla morphology	7809	BSND	OMIM:602522
HP:0100957	Abnormal renal medulla morphology	26276	VPS33B	OMIM:208085
HP:0100957	Abnormal renal medulla morphology	1186	CLCN7	OMIM:618541
HP:0100957	Abnormal renal medulla morphology	9742	IFT140	OMIM:266920
HP:0100957	Abnormal renal medulla morphology	7289	TULP3	OMIM:619902
HP:0100957	Abnormal renal medulla morphology	199221	DZIP1L	OMIM:617610
HP:0100957	Abnormal renal medulla morphology	199221	DZIP1L	ORPHA:731
HP:0100957	Abnormal renal medulla morphology	80184	CEP290	OMIM:610188
HP:0100957	Abnormal renal medulla morphology	25836	NIPBL	OMIM:122470
HP:0100957	Abnormal renal medulla morphology	51473	DCDC2	ORPHA:84081
HP:0100957	Abnormal renal medulla morphology	91147	TMEM67	ORPHA:84081
HP:0100957	Abnormal renal medulla morphology	8449	DHX16	OMIM:618733
HP:0100957	Abnormal renal medulla morphology	10015	PDCD6IP	OMIM:620047
HP:0100957	Abnormal renal medulla morphology	5314	PKHD1	ORPHA:731
HP:0100957	Abnormal renal medulla morphology	10229	COQ7	OMIM:616733
HP:0100957	Abnormal renal medulla morphology	11274	USP18	OMIM:617397
HP:0100957	Abnormal renal medulla morphology	182	JAG1	OMIM:118450
HP:0100957	Abnormal renal medulla morphology	1175	AP2S1	OMIM:600740
HP:0100957	Abnormal renal medulla morphology	9361	LONP1	ORPHA:79243
HP:0100957	Abnormal renal medulla morphology	5160	PDHA1	ORPHA:79243
HP:0100957	Abnormal renal medulla morphology	374879	ZNF699	OMIM:619488
HP:0100957	Abnormal renal medulla morphology	4867	NPHP1	OMIM:609583
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1576	CYP3A4	OMIM:619073
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5251	PHEX	OMIM:307800
HP:0100530	Abnormal calcium-phosphate regulating hormone level	79577	CDC73	ORPHA:99880
HP:0100530	Abnormal calcium-phosphate regulating hormone level	79577	CDC73	ORPHA:99879
HP:0100530	Abnormal calcium-phosphate regulating hormone level	79577	CDC73	ORPHA:143
HP:0100530	Abnormal calcium-phosphate regulating hormone level	9365	KL	OMIM:617994
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1594	CYP27B1	ORPHA:289157
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1594	CYP27B1	OMIM:264700
HP:0100530	Abnormal calcium-phosphate regulating hormone level	120227	CYP2R1	ORPHA:289157
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	OMIM:612462
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	ORPHA:94089
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	ORPHA:79443
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	ORPHA:79444
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	ORPHA:79445
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	OMIM:603233
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2778	GNAS	OMIM:103580
HP:0100530	Abnormal calcium-phosphate regulating hormone level	4221	MEN1	ORPHA:99879
HP:0100530	Abnormal calcium-phosphate regulating hormone level	9247	GCM2	ORPHA:99879
HP:0100530	Abnormal calcium-phosphate regulating hormone level	8675	STX16	ORPHA:94089
HP:0100530	Abnormal calcium-phosphate regulating hormone level	8675	STX16	OMIM:603233
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5573	PRKAR1A	ORPHA:280651
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5573	PRKAR1A	OMIM:101800
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5144	PDE4D	ORPHA:280651
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5144	PDE4D	ORPHA:439822
HP:0100530	Abnormal calcium-phosphate regulating hormone level	149775	GNAS-AS1	OMIM:603233
HP:0100530	Abnormal calcium-phosphate regulating hormone level	7421	VDR	OMIM:277440
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6569	SLC34A1	OMIM:613388
HP:0100530	Abnormal calcium-phosphate regulating hormone level	10686	CLDN16	OMIM:248250
HP:0100530	Abnormal calcium-phosphate regulating hormone level	4763	NF1	ORPHA:97685
HP:0100530	Abnormal calcium-phosphate regulating hormone level	846	CASR	OMIM:239200
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1027	CDKN1B	ORPHA:276152
HP:0100530	Abnormal calcium-phosphate regulating hormone level	50964	SOST	OMIM:122860
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5979	RET	OMIM:162300
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5979	RET	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5979	RET	OMIM:171400
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1026	CDKN1A	ORPHA:652
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1030	CDKN2B	ORPHA:652
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1031	CDKN2C	ORPHA:652
HP:0100530	Abnormal calcium-phosphate regulating hormone level	7428	VHL	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1743	DLST	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	4191	MDH2	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6389	SDHA	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	23095	KIF1B	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	2271	FH	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	8402	SLC25A11	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	54949	SDHAF2	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	55654	TMEM127	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6391	SDHC	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6392	SDHD	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6390	SDHB	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	4149	MAX	ORPHA:29072
HP:0100530	Abnormal calcium-phosphate regulating hormone level	5741	PTH	OMIM:146200
HP:0100530	Abnormal calcium-phosphate regulating hormone level	1591	CYP24A1	OMIM:143880
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6899	TBX1	OMIM:188400
HP:0100530	Abnormal calcium-phosphate regulating hormone level	142680	SLC34A3	ORPHA:157215
HP:0100530	Abnormal calcium-phosphate regulating hormone level	142680	SLC34A3	OMIM:241530
HP:0100530	Abnormal calcium-phosphate regulating hormone level	326	AIRE	OMIM:240300
HP:0100530	Abnormal calcium-phosphate regulating hormone level	6905	TBCE	OMIM:241410
HP:0100530	Abnormal calcium-phosphate regulating hormone level	135	ADORA2A	ORPHA:363549
HP:0100530	Abnormal calcium-phosphate regulating hormone level	100151683	RNU4ATAC	ORPHA:2636
HP:0100530	Abnormal calcium-phosphate regulating hormone level	54757	FAM20A	ORPHA:1031
HP:0100530	Abnormal calcium-phosphate regulating hormone level	55503	TRPV6	ORPHA:417
HP:0100530	Abnormal calcium-phosphate regulating hormone level	149461	CLDN19	ORPHA:2196
HP:0100530	Abnormal calcium-phosphate regulating hormone level	4952	OCRL	ORPHA:534
HP:0100531	Wind-swept deformity of the knees	1311	COMP	ORPHA:750
HP:0100532	Scleritis	51360	MBTPS2	ORPHA:2273
HP:0100532	Scleritis	7390	UROS	ORPHA:79277
HP:0100532	Scleritis	2623	GATA1	ORPHA:79277
HP:0100532	Scleritis	7389	UROD	ORPHA:95159
HP:0100533	Inflammatory abnormality of the eye	10804	GJB6	ORPHA:477
HP:0100533	Inflammatory abnormality of the eye	2706	GJB2	ORPHA:477
HP:0100533	Inflammatory abnormality of the eye	2706	GJB2	OMIM:148210
HP:0100533	Inflammatory abnormality of the eye	1643	DDB2	OMIM:278740
HP:0100533	Inflammatory abnormality of the eye	1643	DDB2	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	5080	PAX6	ORPHA:2334
HP:0100533	Inflammatory abnormality of the eye	5080	PAX6	OMIM:148190
HP:0100533	Inflammatory abnormality of the eye	114548	NLRP3	OMIM:148200
HP:0100533	Inflammatory abnormality of the eye	7454	WAS	ORPHA:906
HP:0100533	Inflammatory abnormality of the eye	7456	WIPF1	ORPHA:906
HP:0100533	Inflammatory abnormality of the eye	2263	FGFR2	OMIM:123500
HP:0100533	Inflammatory abnormality of the eye	7507	XPA	OMIM:278700
HP:0100533	Inflammatory abnormality of the eye	7507	XPA	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	8517	IKBKG	ORPHA:464
HP:0100533	Inflammatory abnormality of the eye	8517	IKBKG	OMIM:308300
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	OMIM:308800
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	OMIM:308205
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	ORPHA:2273
HP:0100533	Inflammatory abnormality of the eye	5429	POLH	OMIM:278750
HP:0100533	Inflammatory abnormality of the eye	5429	POLH	ORPHA:90342
HP:0100533	Inflammatory abnormality of the eye	55343	SLC35C1	ORPHA:99843
HP:0100533	Inflammatory abnormality of the eye	6720	SREBF1	OMIM:619016
HP:0100533	Inflammatory abnormality of the eye	6935	ZEB1	OMIM:613270
HP:0100533	Inflammatory abnormality of the eye	5339	PLEC	OMIM:226670
HP:0100533	Inflammatory abnormality of the eye	8218	CLTCL1	ORPHA:453510
HP:0100533	Inflammatory abnormality of the eye	3572	IL6ST	OMIM:618523
HP:0100533	Inflammatory abnormality of the eye	2074	ERCC6	OMIM:278800
HP:0100533	Inflammatory abnormality of the eye	7508	XPC	OMIM:278720
HP:0100533	Inflammatory abnormality of the eye	7508	XPC	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	4914	NTRK1	OMIM:256800
HP:0100533	Inflammatory abnormality of the eye	242	ALOX12B	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	204219	CERS3	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	26154	ABCA12	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	285848	PNPLA1	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	59344	ALOXE3	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	348938	NIPAL4	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	7051	TGM1	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	9244	CRLF1	OMIM:272430
HP:0100533	Inflammatory abnormality of the eye	2068	ERCC2	OMIM:278730
HP:0100533	Inflammatory abnormality of the eye	2068	ERCC2	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2071	ERCC3	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2072	ERCC4	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2073	ERCC5	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	1288	COL4A6	ORPHA:1018
HP:0100533	Inflammatory abnormality of the eye	1287	COL4A5	ORPHA:1018
HP:0100533	Inflammatory abnormality of the eye	23476	BRD4	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	9126	SMC3	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	8243	SMC1A	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	25836	NIPBL	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	55869	HDAC8	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	5885	RAD21	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	5980	REV3L	ORPHA:570
HP:0100533	Inflammatory abnormality of the eye	23129	PLXND1	ORPHA:570
HP:0100533	Inflammatory abnormality of the eye	348	APOE	ORPHA:158029
HP:0100533	Inflammatory abnormality of the eye	6868	ADAM17	OMIM:614328
HP:0100533	Inflammatory abnormality of the eye	6868	ADAM17	ORPHA:294023
HP:0100533	Inflammatory abnormality of the eye	10095	ARPC1B	OMIM:617718
HP:0100533	Inflammatory abnormality of the eye	6768	ST14	OMIM:602400
HP:0100533	Inflammatory abnormality of the eye	23556	PIGN	ORPHA:280633
HP:0100533	Inflammatory abnormality of the eye	9496	TBX4	ORPHA:261279
HP:0100533	Inflammatory abnormality of the eye	80169	CTC1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	26277	TINF2	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55651	NHP2	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55135	WRAP53	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	51750	RTEL1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	4869	NPM1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7012	TERC	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55505	NOP10	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	5073	PARN	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7015	TERT	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7298	TYMS	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	5333	PLCD1	ORPHA:2387
HP:0100533	Inflammatory abnormality of the eye	10758	TRAF3IP2	OMIM:615527
HP:0100533	Inflammatory abnormality of the eye	1474	CST6	OMIM:618535
HP:0100533	Inflammatory abnormality of the eye	6307	MSMO1	OMIM:616834
HP:0100533	Inflammatory abnormality of the eye	1956	EGFR	ORPHA:294023
HP:0100533	Inflammatory abnormality of the eye	695	BTK	OMIM:300755
HP:0100533	Inflammatory abnormality of the eye	695	BTK	ORPHA:47
HP:0100533	Inflammatory abnormality of the eye	695	BTK	OMIM:307200
HP:0100533	Inflammatory abnormality of the eye	930	CD19	OMIM:613493
HP:0100533	Inflammatory abnormality of the eye	930	CD19	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	987	LRBA	OMIM:614700
HP:0100533	Inflammatory abnormality of the eye	1736	DKC1	OMIM:305000
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:94089
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:79443
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:79444
HP:0100533	Inflammatory abnormality of the eye	8675	STX16	ORPHA:94089
HP:0100533	Inflammatory abnormality of the eye	79650	USB1	OMIM:604173
HP:0100533	Inflammatory abnormality of the eye	2067	ERCC1	ORPHA:90322
HP:0100533	Inflammatory abnormality of the eye	3507	IGHM	OMIM:601495
HP:0100533	Inflammatory abnormality of the eye	3507	IGHM	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	55630	SLC39A4	ORPHA:37
HP:0100533	Inflammatory abnormality of the eye	8676	STX11	OMIM:603552
HP:0100533	Inflammatory abnormality of the eye	5896	RAG1	OMIM:601457
HP:0100533	Inflammatory abnormality of the eye	5897	RAG2	OMIM:601457
HP:0100533	Inflammatory abnormality of the eye	1294	COL7A1	OMIM:226600
HP:0100533	Inflammatory abnormality of the eye	4312	MMP1	OMIM:226600
HP:0100533	Inflammatory abnormality of the eye	162	AP1B1	OMIM:242150
HP:0100533	Inflammatory abnormality of the eye	5075	PAX1	OMIM:615560
HP:0100533	Inflammatory abnormality of the eye	974	CD79B	OMIM:612692
HP:0100533	Inflammatory abnormality of the eye	974	CD79B	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	5340	PLG	OMIM:217090
HP:0100533	Inflammatory abnormality of the eye	7132	TNFRSF1A	ORPHA:32960
HP:0100533	Inflammatory abnormality of the eye	7132	TNFRSF1A	OMIM:142680
HP:0100533	Inflammatory abnormality of the eye	7086	TKT	ORPHA:488618
HP:0100533	Inflammatory abnormality of the eye	29851	ICOS	OMIM:607594
HP:0100533	Inflammatory abnormality of the eye	29851	ICOS	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	65082	VPS33A	ORPHA:505248
HP:0100533	Inflammatory abnormality of the eye	10320	IKZF1	ORPHA:36426
HP:0100533	Inflammatory abnormality of the eye	23495	TNFRSF13B	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	115650	TNFRSF13C	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	1380	CR2	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	55612	FERMT1	ORPHA:2908
HP:0100533	Inflammatory abnormality of the eye	5692	PSMB4	OMIM:617591
HP:0100533	Inflammatory abnormality of the eye	5698	PSMB9	OMIM:617591
HP:0100533	Inflammatory abnormality of the eye	7037	TFRC	OMIM:616740
HP:0100533	Inflammatory abnormality of the eye	7994	KAT6A	OMIM:616268
HP:0100533	Inflammatory abnormality of the eye	686	BTD	OMIM:253260
HP:0100533	Inflammatory abnormality of the eye	686	BTD	ORPHA:79241
HP:0100533	Inflammatory abnormality of the eye	2077	ERF	ORPHA:207
HP:0100533	Inflammatory abnormality of the eye	2303	FOXC2	ORPHA:33001
HP:0100533	Inflammatory abnormality of the eye	2303	FOXC2	OMIM:153400
HP:0100533	Inflammatory abnormality of the eye	54809	SAMD9	OMIM:610455
HP:0100533	Inflammatory abnormality of the eye	3321	IGSF3	OMIM:149700
HP:0100533	Inflammatory abnormality of the eye	6929	TCF3	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	973	CD79A	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	3543	IGLL1	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	29760	BLNK	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	5295	PIK3R1	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	56262	LRRC8A	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	220202	ATOH7	OMIM:221900
HP:0100533	Inflammatory abnormality of the eye	356	FASLG	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	5580	PRKCD	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	843	CASP10	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	10125	RASGRP1	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	2859	GPR35	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	10507	SEMA4D	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	4485	MST1	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	6925	TCF4	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	641	BLM	ORPHA:125
HP:0100533	Inflammatory abnormality of the eye	726	CAPN5	OMIM:193235
HP:0100533	Inflammatory abnormality of the eye	939	CD27	OMIM:615122
HP:0100533	Inflammatory abnormality of the eye	3662	IRF4	ORPHA:3452
HP:0100533	Inflammatory abnormality of the eye	2697	GJA1	OMIM:164200
HP:0100533	Inflammatory abnormality of the eye	10273	STUB1	ORPHA:412057
HP:0100533	Inflammatory abnormality of the eye	3560	IL2RB	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	79722	ANKRD55	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	26191	PTPN22	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	919	CD247	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	3559	IL2RA	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	5771	PTPN2	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	2261	FGFR3	ORPHA:2363
HP:0100533	Inflammatory abnormality of the eye	2255	FGF10	ORPHA:2363
HP:0100533	Inflammatory abnormality of the eye	3141	HLCS	ORPHA:79242
HP:0100533	Inflammatory abnormality of the eye	7390	UROS	ORPHA:79277
HP:0100533	Inflammatory abnormality of the eye	2623	GATA1	ORPHA:79277
HP:0100533	Inflammatory abnormality of the eye	326	AIRE	OMIM:240300
HP:0100533	Inflammatory abnormality of the eye	7389	UROD	ORPHA:95159
HP:0100533	Inflammatory abnormality of the eye	6335	SCN9A	OMIM:133020
HP:0100533	Inflammatory abnormality of the eye	54941	RNF125	OMIM:616260
HP:0100533	Inflammatory abnormality of the eye	55699	IARS2	OMIM:616007
HP:0100533	Inflammatory abnormality of the eye	1161	ERCC8	ORPHA:90324
HP:0100533	Inflammatory abnormality of the eye	404672	GTF2H5	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	833	CARS1	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	7737	RNF113A	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	136647	MPLKIP	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	136647	MPLKIP	OMIM:234050
HP:0100533	Inflammatory abnormality of the eye	6897	TARS1	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	2961	GTF2E2	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	1308	COL17A1	ORPHA:293381
HP:0100533	Inflammatory abnormality of the eye	4547	MTTP	ORPHA:14
HP:0100533	Inflammatory abnormality of the eye	2934	GSN	ORPHA:85448
HP:0100533	Inflammatory abnormality of the eye	4081	MAB21L1	OMIM:618479
HP:0100533	Inflammatory abnormality of the eye	3930	LBR	ORPHA:779
HP:0100533	Inflammatory abnormality of the eye	2200	FBN1	OMIM:616914
HP:0100533	Inflammatory abnormality of the eye	165	AEBP1	ORPHA:536532
HP:0100533	Inflammatory abnormality of the eye	56244	BTNL2	ORPHA:797
HP:0100533	Inflammatory abnormality of the eye	3123	HLA-DRB1	ORPHA:797
HP:0100533	Inflammatory abnormality of the eye	149233	IL23R	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	6775	STAT4	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3586	IL10	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	4210	MEFV	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	1230	CCR1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	355	FAS	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3592	IL12A	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	101928376	IL12A-AS1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3106	HLA-B	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	7099	TLR4	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3459	IFNGR1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	720	C4A	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	337867	UBAC2	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	51752	ERAP1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	8302	KLRC4	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	8626	TP63	ORPHA:69085
HP:0100533	Inflammatory abnormality of the eye	64127	NOD2	OMIM:186580
HP:0100533	Inflammatory abnormality of the eye	4072	EPCAM	ORPHA:92050
HP:0100533	Inflammatory abnormality of the eye	105371045	PERCC1	ORPHA:92050
HP:0100533	Inflammatory abnormality of the eye	22861	NLRP1	OMIM:617388
HP:0100533	Inflammatory abnormality of the eye	144811	LACC1	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	4282	MIF	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	3569	IL6	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	7128	TNFAIP3	OMIM:616744
HP:0100533	Inflammatory abnormality of the eye	330	BIRC3	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	10892	MALT1	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	27086	FOXP1	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	3492	IGH	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	8915	BCL10	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	3105	HLA-A	ORPHA:179
HP:0100533	Inflammatory abnormality of the eye	224	ALDH3A2	ORPHA:816
HP:0100533	Inflammatory abnormality of the eye	3593	IL12B	ORPHA:3287
HP:0100533	Inflammatory abnormality of the eye	6945	MLX	ORPHA:3287
HP:0100533	Inflammatory abnormality of the eye	1493	CTLA4	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	3115	HLA-DPB1	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	5657	PRTN3	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	3113	HLA-DPA1	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	1536	CYBB	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	4688	NCF2	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	1535	CYBA	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	4689	NCF4	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	653361	NCF1	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	79415	CYBC1	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	8314	BAP1	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	57105	CYSLTR2	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	2776	GNAQ	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	2767	GNA11	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	23451	SF3B1	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	55315	SLC29A3	OMIM:602782
HP:0100533	Inflammatory abnormality of the eye	5696	PSMB8	OMIM:256040
HP:0100533	Inflammatory abnormality of the eye	1776	DNASE1L3	ORPHA:36412
HP:0100534	Episcleritis	55315	SLC29A3	OMIM:602782
HP:0100534	Episcleritis	114548	NLRP3	ORPHA:575
HP:0100534	Episcleritis	51360	MBTPS2	ORPHA:2273
HP:0100534	Episcleritis	5696	PSMB8	OMIM:256040
HP:0100534	Episcleritis	1776	DNASE1L3	ORPHA:36412
HP:0100536	Abnormality of the fascia	4914	NTRK1	ORPHA:642
HP:0100536	Abnormality of the fascia	7132	TNFRSF1A	ORPHA:32960
HP:0100537	Fasciitis	4914	NTRK1	ORPHA:642
HP:0100537	Fasciitis	7132	TNFRSF1A	ORPHA:32960
HP:0100538	Abnormality of the supraorbital ridges	50964	SOST	OMIM:269500
HP:0100538	Abnormality of the supraorbital ridges	27316	RBMX	OMIM:300238
HP:0100538	Abnormality of the supraorbital ridges	23512	SUZ12	OMIM:618786
HP:0100538	Abnormality of the supraorbital ridges	2892	GRIA3	ORPHA:364028
HP:0100538	Abnormality of the supraorbital ridges	2892	GRIA3	OMIM:300699
HP:0100538	Abnormality of the supraorbital ridges	57680	CHD8	OMIM:615032
HP:0100538	Abnormality of the supraorbital ridges	5063	PAK3	OMIM:300558
HP:0100538	Abnormality of the supraorbital ridges	5702	PSMC3	OMIM:619354
HP:0100538	Abnormality of the supraorbital ridges	6885	MAP3K7	OMIM:617137
HP:0100538	Abnormality of the supraorbital ridges	6885	MAP3K7	ORPHA:1826
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	OMIM:314400
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	ORPHA:2484
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	OMIM:305620
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	ORPHA:1826
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	OMIM:309350
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	OMIM:311300
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	ORPHA:90650
HP:0100538	Abnormality of the supraorbital ridges	2316	FLNA	ORPHA:90652
HP:0100538	Abnormality of the supraorbital ridges	85358	SHANK3	OMIM:606232
HP:0100538	Abnormality of the supraorbital ridges	11128	POLR3A	OMIM:264090
HP:0100538	Abnormality of the supraorbital ridges	10060	ABCC9	OMIM:619719
HP:0100538	Abnormality of the supraorbital ridges	10060	ABCC9	ORPHA:1517
HP:0100538	Abnormality of the supraorbital ridges	1302	COL11A2	OMIM:215150
HP:0100538	Abnormality of the supraorbital ridges	4983	OPHN1	OMIM:300486
HP:0100538	Abnormality of the supraorbital ridges	6872	TAF1	OMIM:300966
HP:0100538	Abnormality of the supraorbital ridges	6872	TAF1	ORPHA:480907
HP:0100538	Abnormality of the supraorbital ridges	170302	ARX	OMIM:300004
HP:0100538	Abnormality of the supraorbital ridges	81887	LAS1L	ORPHA:3459
HP:0100538	Abnormality of the supraorbital ridges	55869	HDAC8	ORPHA:3459
HP:0100538	Abnormality of the supraorbital ridges	57688	ZSWIM6	OMIM:617865
HP:0100538	Abnormality of the supraorbital ridges	3764	KCNJ8	ORPHA:1517
HP:0100538	Abnormality of the supraorbital ridges	2273	FHL1	OMIM:300280
HP:0100538	Abnormality of the supraorbital ridges	3423	IDS	ORPHA:217093
HP:0100538	Abnormality of the supraorbital ridges	3423	IDS	ORPHA:217085
HP:0100538	Abnormality of the supraorbital ridges	3930	LBR	OMIM:215140
HP:0100538	Abnormality of the supraorbital ridges	6197	RPS6KA3	OMIM:303600
HP:0100538	Abnormality of the supraorbital ridges	5295	PIK3R1	ORPHA:3163
HP:0100538	Abnormality of the supraorbital ridges	1896	EDA	OMIM:305100
HP:0100538	Abnormality of the supraorbital ridges	84295	PHF6	OMIM:301900
HP:0100538	Abnormality of the supraorbital ridges	84295	PHF6	ORPHA:127
HP:0100538	Abnormality of the supraorbital ridges	10484	SEC23A	ORPHA:50814
HP:0100538	Abnormality of the supraorbital ridges	10484	SEC23A	OMIM:607812
HP:0100538	Abnormality of the supraorbital ridges	92255	LMBRD2	OMIM:619694
HP:0100538	Abnormality of the supraorbital ridges	57479	PRR12	OMIM:619539
HP:0100538	Abnormality of the supraorbital ridges	2260	FGFR1	OMIM:166250
HP:0100538	Abnormality of the supraorbital ridges	2260	FGFR1	ORPHA:3366
HP:0100538	Abnormality of the supraorbital ridges	114034	TOE1	OMIM:614969
HP:0100538	Abnormality of the supraorbital ridges	5308	PITX2	OMIM:180500
HP:0100538	Abnormality of the supraorbital ridges	79791	FBXO31	OMIM:615979
HP:0100538	Abnormality of the supraorbital ridges	2072	ERCC4	OMIM:610965
HP:0100538	Abnormality of the supraorbital ridges	5468	PPARG	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	10555	AGPAT2	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	284119	CAVIN1	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	26580	BSCL2	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	2353	FOS	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	857	CAV1	ORPHA:528
HP:0100538	Abnormality of the supraorbital ridges	158326	FREM1	ORPHA:3366
HP:0100538	Abnormality of the supraorbital ridges	23133	PHF8	OMIM:300263
HP:0100538	Abnormality of the supraorbital ridges	7319	UBE2A	OMIM:300860
HP:0100538	Abnormality of the supraorbital ridges	5159	PDGFRB	OMIM:616592
HP:0100538	Abnormality of the supraorbital ridges	164	AP1G1	OMIM:619548
HP:0100538	Abnormality of the supraorbital ridges	3720	JARID2	OMIM:620098
HP:0100538	Abnormality of the supraorbital ridges	121340	SP7	OMIM:613849
HP:0100538	Abnormality of the supraorbital ridges	5745	PTH1R	OMIM:156400
HP:0100538	Abnormality of the supraorbital ridges	3981	LIG4	ORPHA:235
HP:0100538	Abnormality of the supraorbital ridges	54888	NSUN2	ORPHA:235
HP:0100538	Abnormality of the supraorbital ridges	29957	SLC25A24	ORPHA:2095
HP:0100538	Abnormality of the supraorbital ridges	29957	SLC25A24	OMIM:612289
HP:0100538	Abnormality of the supraorbital ridges	8216	LZTR1	OMIM:616564
HP:0100538	Abnormality of the supraorbital ridges	8216	LZTR1	OMIM:605275
HP:0100538	Abnormality of the supraorbital ridges	5648	MASP1	OMIM:257920
HP:0100538	Abnormality of the supraorbital ridges	673	BRAF	OMIM:115150
HP:0100538	Abnormality of the supraorbital ridges	673	BRAF	ORPHA:1340
HP:0100538	Abnormality of the supraorbital ridges	8405	SPOP	OMIM:618828
HP:0100538	Abnormality of the supraorbital ridges	157570	ESCO2	ORPHA:3103
HP:0100538	Abnormality of the supraorbital ridges	5293	PIK3CD	ORPHA:221139
HP:0100538	Abnormality of the supraorbital ridges	5293	PIK3CD	OMIM:613328
HP:0100538	Abnormality of the supraorbital ridges	90417	KNSTRN	ORPHA:221139
HP:0100538	Abnormality of the supraorbital ridges	90417	KNSTRN	OMIM:613328
HP:0100538	Abnormality of the supraorbital ridges	4758	NEU1	ORPHA:93399
HP:0100538	Abnormality of the supraorbital ridges	4758	NEU1	ORPHA:93400
HP:0100538	Abnormality of the supraorbital ridges	2702	GJA5	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	1482	NKX2-5	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	137814	NKX2-6	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	23414	ZFPM2	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	2626	GATA4	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	3791	KDR	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	2627	GATA6	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	2657	GDF1	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	182	JAG1	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	6899	TBX1	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	140628	GATA5	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	2324	FLT4	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	10370	CITED2	ORPHA:3303
HP:0100538	Abnormality of the supraorbital ridges	5727	PTCH1	OMIM:610828
HP:0100538	Abnormality of the supraorbital ridges	51715	RAB23	OMIM:201000
HP:0100538	Abnormality of the supraorbital ridges	3832	KIF11	ORPHA:2526
HP:0100538	Abnormality of the supraorbital ridges	2263	FGFR2	OMIM:123790
HP:0100538	Abnormality of the supraorbital ridges	2263	FGFR2	ORPHA:1540
HP:0100538	Abnormality of the supraorbital ridges	8241	RBM10	ORPHA:2886
HP:0100538	Abnormality of the supraorbital ridges	8241	RBM10	OMIM:311900
HP:0100538	Abnormality of the supraorbital ridges	23387	SIK3	OMIM:618162
HP:0100538	Abnormality of the supraorbital ridges	3039	HBA1	ORPHA:98791
HP:0100538	Abnormality of the supraorbital ridges	3040	HBA2	ORPHA:98791
HP:0100538	Abnormality of the supraorbital ridges	54496	PRMT7	OMIM:617157
HP:0100538	Abnormality of the supraorbital ridges	9652	SKIC3	OMIM:222470
HP:0100538	Abnormality of the supraorbital ridges	5604	MAP2K1	ORPHA:1340
HP:0100538	Abnormality of the supraorbital ridges	5605	MAP2K2	ORPHA:1340
HP:0100538	Abnormality of the supraorbital ridges	3845	KRAS	ORPHA:1340
HP:0100538	Abnormality of the supraorbital ridges	129285	PPP1R21	OMIM:619383
HP:0100538	Abnormality of the supraorbital ridges	83696	TRAPPC9	ORPHA:352530
HP:0100538	Abnormality of the supraorbital ridges	1954	MEGF8	OMIM:614976
HP:0100538	Abnormality of the supraorbital ridges	4654	MYOD1	OMIM:618975
HP:0100538	Abnormality of the supraorbital ridges	84168	ANTXR1	ORPHA:2067
HP:0100538	Abnormality of the supraorbital ridges	6664	SOX11	OMIM:615866
HP:0100538	Abnormality of the supraorbital ridges	55670	PEX26	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5824	PEX19	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5828	PEX2	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	8504	PEX3	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	8799	PEX11B	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	9409	PEX16	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5190	PEX6	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5830	PEX5	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5189	PEX1	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5193	PEX12	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5194	PEX13	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5195	PEX14	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	5192	PEX10	ORPHA:912
HP:0100538	Abnormality of the supraorbital ridges	2690	GHR	ORPHA:633
HP:0100538	Abnormality of the supraorbital ridges	7291	TWIST1	ORPHA:35099
HP:0100538	Abnormality of the supraorbital ridges	2261	FGFR3	ORPHA:35099
HP:0100538	Abnormality of the supraorbital ridges	6938	TCF12	ORPHA:35099
HP:0100538	Abnormality of the supraorbital ridges	7545	ZIC1	ORPHA:35099
HP:0100539	Periorbital edema	1277	COL1A1	ORPHA:287
HP:0100539	Periorbital edema	1289	COL5A1	ORPHA:287
HP:0100539	Periorbital edema	1290	COL5A2	ORPHA:287
HP:0100539	Periorbital edema	1009	CDH11	ORPHA:1299
HP:0100539	Periorbital edema	9509	ADAMTS2	OMIM:225410
HP:0100539	Periorbital edema	2934	GSN	ORPHA:85448
HP:0100539	Periorbital edema	7994	KAT6A	OMIM:616268
HP:0100539	Periorbital edema	22907	DHX30	OMIM:617804
HP:0100539	Periorbital edema	55315	SLC29A3	ORPHA:168569
HP:0100539	Periorbital edema	116931	MED12L	OMIM:618872
HP:0100539	Periorbital edema	54453	RIN2	ORPHA:217335
HP:0100539	Periorbital edema	55691	FRMD4A	OMIM:616819
HP:0100539	Periorbital edema	51371	POMP	OMIM:618048
HP:0100539	Periorbital edema	5692	PSMB4	OMIM:617591
HP:0100539	Periorbital edema	5698	PSMB9	OMIM:617591
HP:0100539	Periorbital edema	9780	PIEZO1	OMIM:616843
HP:0100539	Periorbital edema	8425	LTBP4	OMIM:613177
HP:0100539	Periorbital edema	7132	TNFRSF1A	OMIM:142680
HP:0100539	Periorbital edema	7132	TNFRSF1A	ORPHA:32960
HP:0100539	Periorbital edema	6804	STX1A	ORPHA:904
HP:0100539	Periorbital edema	7461	CLIP2	ORPHA:904
HP:0100539	Periorbital edema	84277	DNAJC30	ORPHA:904
HP:0100539	Periorbital edema	8468	FKBP6	ORPHA:904
HP:0100539	Periorbital edema	5982	RFC2	ORPHA:904
HP:0100539	Periorbital edema	2969	GTF2I	ORPHA:904
HP:0100539	Periorbital edema	3984	LIMK1	ORPHA:904
HP:0100539	Periorbital edema	9569	GTF2IRD1	ORPHA:904
HP:0100539	Periorbital edema	155382	VPS37D	ORPHA:904
HP:0100539	Periorbital edema	155368	METTL27	ORPHA:904
HP:0100539	Periorbital edema	114049	BUD23	ORPHA:904
HP:0100539	Periorbital edema	7458	EIF4H	ORPHA:904
HP:0100539	Periorbital edema	84163	GTF2IRD2	ORPHA:904
HP:0100539	Periorbital edema	9275	BCL7B	ORPHA:904
HP:0100539	Periorbital edema	26608	TBL2	ORPHA:904
HP:0100539	Periorbital edema	653361	NCF1	ORPHA:904
HP:0100539	Periorbital edema	135886	TMEM270	ORPHA:904
HP:0100539	Periorbital edema	51085	MLXIPL	ORPHA:904
HP:0100539	Periorbital edema	9031	BAZ1B	ORPHA:904
HP:0100539	Periorbital edema	2006	ELN	ORPHA:904
HP:0100539	Periorbital edema	1493	CTLA4	ORPHA:900
HP:0100539	Periorbital edema	26191	PTPN22	ORPHA:900
HP:0100539	Periorbital edema	3115	HLA-DPB1	ORPHA:900
HP:0100539	Periorbital edema	5657	PRTN3	ORPHA:900
HP:0100539	Periorbital edema	3113	HLA-DPA1	ORPHA:900
HP:0100539	Periorbital edema	2050	EPHB4	ORPHA:90186
HP:0100539	Periorbital edema	147372	CCBE1	OMIM:235510
HP:0100539	Periorbital edema	710	SERPING1	OMIM:106100
HP:0100539	Periorbital edema	285362	SUMF1	OMIM:272200
HP:0100539	Periorbital edema	4615	MYD88	ORPHA:33226
HP:0100539	Periorbital edema	3321	IGSF3	OMIM:149700
HP:0100539	Periorbital edema	4868	NPHS1	ORPHA:656
HP:0100539	Periorbital edema	23607	CD2AP	ORPHA:656
HP:0100539	Periorbital edema	9688	NUP93	ORPHA:656
HP:0100539	Periorbital edema	4643	MYO1E	ORPHA:656
HP:0100539	Periorbital edema	64423	INF2	ORPHA:656
HP:0100539	Periorbital edema	26130	GAPVD1	ORPHA:656
HP:0100539	Periorbital edema	7490	WT1	ORPHA:656
HP:0100539	Periorbital edema	57122	NUP107	ORPHA:656
HP:0100539	Periorbital edema	51479	ANKFY1	ORPHA:656
HP:0100539	Periorbital edema	54443	ANLN	ORPHA:656
HP:0100539	Periorbital edema	5800	PTPRO	ORPHA:656
HP:0100539	Periorbital edema	286204	CRB2	ORPHA:656
HP:0100539	Periorbital edema	23165	NUP205	ORPHA:656
HP:0100539	Periorbital edema	2013	EMP2	ORPHA:656
HP:0100539	Periorbital edema	79023	NUP37	ORPHA:656
HP:0100539	Periorbital edema	51196	PLCE1	ORPHA:656
HP:0100539	Periorbital edema	79902	NUP85	ORPHA:656
HP:0100539	Periorbital edema	1285	COL4A3	ORPHA:656
HP:0100539	Periorbital edema	396	ARHGDIA	ORPHA:656
HP:0100539	Periorbital edema	79934	COQ8B	ORPHA:656
HP:0100539	Periorbital edema	23279	NUP160	ORPHA:656
HP:0100539	Periorbital edema	9863	MAGI2	ORPHA:656
HP:0100539	Periorbital edema	81	ACTN4	ORPHA:656
HP:0100539	Periorbital edema	7225	TRPC6	ORPHA:656
HP:0100539	Periorbital edema	8542	APOL1	ORPHA:656
HP:0100539	Periorbital edema	54885	TBC1D8B	ORPHA:656
HP:0100539	Periorbital edema	7827	NPHS2	ORPHA:656
HP:0100539	Periorbital edema	83478	ARHGAP24	ORPHA:656
HP:0100539	Periorbital edema	23500	DAAM2	ORPHA:656
HP:0100539	Periorbital edema	5076	PAX2	ORPHA:656
HP:0100539	Periorbital edema	55746	NUP133	ORPHA:656
HP:0100539	Periorbital edema	54345	SOX18	OMIM:137940
HP:0100539	Periorbital edema	54345	SOX18	OMIM:607823
HP:0100539	Periorbital edema	54345	SOX18	ORPHA:69735
HP:0100539	Periorbital edema	2290	FOXG1	ORPHA:261144
HP:0100539	Periorbital edema	6711	SPTBN1	OMIM:619475
HP:0100539	Periorbital edema	85358	SHANK3	ORPHA:48652
HP:0100539	Periorbital edema	85358	SHANK3	OMIM:606232
HP:0100539	Periorbital edema	7045	TGFBI	OMIM:608470
HP:0100539	Periorbital edema	284252	KCTD1	ORPHA:2036
HP:0100539	Periorbital edema	284252	KCTD1	OMIM:181270
HP:0100539	Periorbital edema	9326	ZNHIT3	ORPHA:2836
HP:0100539	Periorbital edema	547	KIF1A	ORPHA:2836
HP:0100539	Periorbital edema	5828	PEX2	OMIM:614866
HP:0100539	Periorbital edema	5457	POU4F1	ORPHA:314647
HP:0100539	Periorbital edema	23261	CAMTA1	ORPHA:314647
HP:0100539	Periorbital edema	23261	CAMTA1	OMIM:614756
HP:0100539	Periorbital edema	5830	PEX5	OMIM:214110
HP:0100539	Periorbital edema	83550	GPR101	ORPHA:963
HP:0100539	Periorbital edema	9049	AIP	ORPHA:963
HP:0100539	Periorbital edema	5293	PIK3CD	ORPHA:221139
HP:0100539	Periorbital edema	90417	KNSTRN	ORPHA:221139
HP:0100539	Periorbital edema	22947	DUX4L1	ORPHA:269
HP:0100539	Periorbital edema	1789	DNMT3B	ORPHA:269
HP:0100539	Periorbital edema	2483	FRG1	ORPHA:269
HP:0100539	Periorbital edema	23347	SMCHD1	ORPHA:269
HP:0100539	Periorbital edema	100288687	DUX4	ORPHA:269
HP:0100539	Periorbital edema	71	ACTG1	ORPHA:2995
HP:0100539	Periorbital edema	60	ACTB	ORPHA:2995
HP:0100539	Periorbital edema	7512	XPNPEP2	ORPHA:100057
HP:0100539	Periorbital edema	11133	KPTN	ORPHA:397612
HP:0100539	Periorbital edema	84168	ANTXR1	ORPHA:2067
HP:0100539	Periorbital edema	5723	PSPH	ORPHA:79350
HP:0100539	Periorbital edema	79158	GNPTAB	OMIM:252500
HP:0100539	Periorbital edema	57231	SNX14	ORPHA:397709
HP:0100539	Periorbital edema	55343	SLC35C1	ORPHA:99843
HP:0011003	High myopia	1280	COL2A1	OMIM:271700
HP:0011003	High myopia	1280	COL2A1	ORPHA:485
HP:0011003	High myopia	84189	SLITRK6	OMIM:221200
HP:0011003	High myopia	55703	POLR3B	OMIM:614381
HP:0011003	High myopia	6134	RPL10	OMIM:300998
HP:0011003	High myopia	2200	FBN1	ORPHA:284979
HP:0011003	High myopia	2200	FBN1	OMIM:616914
HP:0011003	High myopia	2200	FBN1	OMIM:608328
HP:0011003	High myopia	2200	FBN1	ORPHA:3449
HP:0011003	High myopia	1299	COL9A3	OMIM:620022
HP:0011003	High myopia	1605	DAG1	ORPHA:370997
HP:0011003	High myopia	1605	DAG1	OMIM:616538
HP:0011003	High myopia	7045	TGFBI	ORPHA:98964
HP:0011003	High myopia	256471	MFSD8	OMIM:616170
HP:0011003	High myopia	57465	TBC1D24	OMIM:220500
HP:0011003	High myopia	54714	CNGB3	OMIM:262300
HP:0011003	High myopia	55610	VPS50	OMIM:619685
HP:0011003	High myopia	54453	RIN2	ORPHA:217335
HP:0011003	High myopia	54453	RIN2	OMIM:613075
HP:0011003	High myopia	64412	GZF1	OMIM:617662
HP:0011003	High myopia	123016	TTC8	OMIM:613464
HP:0011003	High myopia	79631	EFL1	OMIM:617941
HP:0011003	High myopia	90161	HS6ST2	OMIM:301025
HP:0011003	High myopia	4784	NFIX	OMIM:602535
HP:0011003	High myopia	8925	HERC1	ORPHA:457359
HP:0011003	High myopia	170691	ADAMTS17	OMIM:613195
HP:0011003	High myopia	1298	COL9A2	OMIM:614284
HP:0011003	High myopia	9364	RAB28	OMIM:615374
HP:0011003	High myopia	10265	IRX5	OMIM:611174
HP:0011003	High myopia	79797	ZNF408	OMIM:616469
HP:0011003	High myopia	440435	GPR179	OMIM:614565
HP:0011003	High myopia	84146	ZNF644	OMIM:614167
HP:0011003	High myopia	23545	ATP6V0A2	ORPHA:2834
HP:0011003	High myopia	23545	ATP6V0A2	ORPHA:357074
HP:0011003	High myopia	6102	RP2	OMIM:312600
HP:0011003	High myopia	3913	LAMB2	OMIM:609049
HP:0011003	High myopia	7276	TTR	OMIM:105210
HP:0011003	High myopia	444	ASPH	OMIM:601552
HP:0011003	High myopia	9401	RECQL4	OMIM:218600
HP:0011003	High myopia	171023	ASXL1	ORPHA:97297
HP:0011003	High myopia	10524	KAT5	OMIM:619103
HP:0011003	High myopia	55214	P3H2	OMIM:614292
HP:0011003	High myopia	9997	SCO2	OMIM:608908
HP:0011003	High myopia	201973	PRIMPOL	OMIM:615420
HP:0011003	High myopia	1410	CRYAB	OMIM:613763
HP:0011003	High myopia	6785	ELOVL4	OMIM:614457
HP:0011003	High myopia	9419	CRIPT	OMIM:615789
HP:0011003	High myopia	283375	SLC39A5	OMIM:615946
HP:0011003	High myopia	81794	ADAMTS10	OMIM:277600
HP:0011003	High myopia	81794	ADAMTS10	ORPHA:3449
HP:0011003	High myopia	6611	SMS	ORPHA:3063
HP:0011003	High myopia	6611	SMS	OMIM:309583
HP:0011003	High myopia	2261	FGFR3	OMIM:616482
HP:0011003	High myopia	54507	ADAMTSL4	OMIM:225200
HP:0011003	High myopia	1349	COX7B	OMIM:309801
HP:0011003	High myopia	3052	HCCS	OMIM:309801
HP:0011003	High myopia	54539	NDUFB11	OMIM:309801
HP:0011003	High myopia	10526	IPO8	OMIM:619472
HP:0011003	High myopia	4043	LRPAP1	OMIM:615431
HP:0011003	High myopia	92002	CCNQ	OMIM:300707
HP:0011003	High myopia	29894	CPSF1	OMIM:618827
HP:0011003	High myopia	5149	PDE6H	OMIM:610024
HP:0011003	High myopia	83475	DOHH	OMIM:620066
HP:0011003	High myopia	80781	COL18A1	OMIM:267750
HP:0011003	High myopia	4036	LRP2	OMIM:222448
HP:0011003	High myopia	51611	DPH5	OMIM:620070
HP:0011003	High myopia	407	ARR3	OMIM:301010
HP:0011003	High myopia	8314	BAP1	OMIM:619762
HP:0011003	High myopia	388552	BLOC1S3	OMIM:614077
HP:0011003	High myopia	2683	B4GALT1	ORPHA:79332
HP:0011003	High myopia	2065	ERBB3	OMIM:607598
HP:0011003	High myopia	11107	PRDM5	ORPHA:90354
HP:0011003	High myopia	84627	ZNF469	ORPHA:90354
HP:0011003	High myopia	1301	COL11A1	ORPHA:440354
HP:0011003	High myopia	523	ATP6V1A	ORPHA:357074
HP:0011003	High myopia	529	ATP6V1E1	ORPHA:357074
HP:0011003	High myopia	282809	POC1B	OMIM:615973
HP:0011003	High myopia	4053	LTBP2	ORPHA:3449
HP:0011003	High myopia	4053	LTBP2	OMIM:614819
HP:0011003	High myopia	8974	P4HA2	OMIM:617238
HP:0011003	High myopia	345193	LRIT3	OMIM:615058
HP:0011003	High myopia	55624	POMGNT1	OMIM:613157
HP:0011003	High myopia	4094	MAF	OMIM:610202
HP:0011003	High myopia	60506	NYX	OMIM:310500
HP:0011003	High myopia	1302	COL11A2	ORPHA:1427
HP:0011003	High myopia	5076	PAX2	OMIM:120330
HP:0011003	High myopia	285440	CYP4V2	OMIM:210370
HP:0011003	High myopia	64802	NMNAT1	OMIM:619260
HP:0011003	High myopia	2742	GLRA2	OMIM:301076
HP:0011003	High myopia	6103	RPGR	OMIM:300029
HP:0011003	High myopia	23404	EXOSC2	OMIM:617763
HP:0011003	High myopia	23093	TTLL5	OMIM:615860
HP:0011003	High myopia	84695	LOXL3	OMIM:619781
HP:0011003	High myopia	1297	COL9A1	OMIM:614134
HP:0011003	High myopia	5062	PAK2	OMIM:618458
HP:0011003	High myopia	2202	EFEMP1	ORPHA:98977
HP:0011003	High myopia	1545	CYP1B1	ORPHA:98977
HP:0011003	High myopia	4653	MYOC	ORPHA:98977
HP:0011003	High myopia	4693	NDP	OMIM:305390
HP:0011006	Abnormal morphology of the musculature of the neck	25792	CIZ1	ORPHA:420492
HP:0011006	Abnormal morphology of the musculature of the neck	58	ACTA1	ORPHA:97240
HP:0011006	Abnormal morphology of the musculature of the neck	10749	KIF1C	ORPHA:397946
HP:0011006	Abnormal morphology of the musculature of the neck	10749	KIF1C	OMIM:611302
HP:0011006	Abnormal morphology of the musculature of the neck	2643	GCH1	OMIM:128230
HP:0011006	Abnormal morphology of the musculature of the neck	2643	GCH1	ORPHA:98808
HP:0011006	Abnormal morphology of the musculature of the neck	1291	COL6A1	OMIM:254090
HP:0011006	Abnormal morphology of the musculature of the neck	1291	COL6A1	ORPHA:75840
HP:0011006	Abnormal morphology of the musculature of the neck	1291	COL6A1	OMIM:158810
HP:0011006	Abnormal morphology of the musculature of the neck	1292	COL6A2	OMIM:254090
HP:0011006	Abnormal morphology of the musculature of the neck	1292	COL6A2	ORPHA:75840
HP:0011006	Abnormal morphology of the musculature of the neck	1292	COL6A2	OMIM:158810
HP:0011006	Abnormal morphology of the musculature of the neck	1293	COL6A3	OMIM:254090
HP:0011006	Abnormal morphology of the musculature of the neck	1293	COL6A3	ORPHA:75840
HP:0011006	Abnormal morphology of the musculature of the neck	1293	COL6A3	OMIM:616411
HP:0011006	Abnormal morphology of the musculature of the neck	1293	COL6A3	OMIM:158810
HP:0011006	Abnormal morphology of the musculature of the neck	2774	GNAL	OMIM:615073
HP:0011006	Abnormal morphology of the musculature of the neck	2774	GNAL	ORPHA:329466
HP:0011006	Abnormal morphology of the musculature of the neck	1356	CP	OMIM:604290
HP:0011006	Abnormal morphology of the musculature of the neck	1356	CP	ORPHA:48818
HP:0011006	Abnormal morphology of the musculature of the neck	478	ATP1A3	OMIM:128235
HP:0011006	Abnormal morphology of the musculature of the neck	478	ATP1A3	ORPHA:71517
HP:0011006	Abnormal morphology of the musculature of the neck	1303	COL12A1	ORPHA:75840
HP:0011006	Abnormal morphology of the musculature of the neck	3208	HPCA	ORPHA:99657
HP:0011006	Abnormal morphology of the musculature of the neck	3208	HPCA	OMIM:224500
HP:0011006	Abnormal morphology of the musculature of the neck	5575	PRKAR1B	OMIM:619680
HP:0011006	Abnormal morphology of the musculature of the neck	55187	VPS13D	OMIM:607317
HP:0011006	Abnormal morphology of the musculature of the neck	91754	NEK9	OMIM:617022
HP:0011006	Abnormal morphology of the musculature of the neck	81790	RNF170	OMIM:619686
HP:0011006	Abnormal morphology of the musculature of the neck	387119	CEP85L	OMIM:618873
HP:0011006	Abnormal morphology of the musculature of the neck	3781	KCNN2	OMIM:619724
HP:0011006	Abnormal morphology of the musculature of the neck	1644	DDC	OMIM:608643
HP:0011006	Abnormal morphology of the musculature of the neck	64221	ROBO3	OMIM:607313
HP:0011006	Abnormal morphology of the musculature of the neck	63982	ANO3	ORPHA:420485
HP:0011006	Abnormal morphology of the musculature of the neck	63982	ANO3	OMIM:615034
HP:0011006	Abnormal morphology of the musculature of the neck	343641	TGM6	OMIM:613908
HP:0011006	Abnormal morphology of the musculature of the neck	343641	TGM6	ORPHA:276193
HP:0011006	Abnormal morphology of the musculature of the neck	8575	PRKRA	ORPHA:210571
HP:0011006	Abnormal morphology of the musculature of the neck	64601	VPS16	OMIM:619291
HP:0011006	Abnormal morphology of the musculature of the neck	25953	PNKD	OMIM:118800
HP:0011006	Abnormal morphology of the musculature of the neck	25953	PNKD	ORPHA:98810
HP:0011006	Abnormal morphology of the musculature of the neck	116228	COX20	OMIM:619054
HP:0011006	Abnormal morphology of the musculature of the neck	8260	NAA10	OMIM:300855
HP:0011006	Abnormal morphology of the musculature of the neck	8260	NAA10	ORPHA:276432
HP:0011006	Abnormal morphology of the musculature of the neck	10381	TUBB3	ORPHA:300570
HP:0011006	Abnormal morphology of the musculature of the neck	54834	GDAP2	OMIM:618369
HP:0011006	Abnormal morphology of the musculature of the neck	23400	ATP13A2	OMIM:606693
HP:0011006	Abnormal morphology of the musculature of the neck	7703	PCGF2	OMIM:618371
HP:0011006	Abnormal morphology of the musculature of the neck	773	CACNA1A	ORPHA:97
HP:0011006	Abnormal morphology of the musculature of the neck	773	CACNA1A	ORPHA:71518
HP:0011006	Abnormal morphology of the musculature of the neck	1813	DRD2	ORPHA:36899
HP:0011006	Abnormal morphology of the musculature of the neck	8910	SGCE	ORPHA:36899
HP:0011006	Abnormal morphology of the musculature of the neck	8910	SGCE	OMIM:159900
HP:0011006	Abnormal morphology of the musculature of the neck	79734	KCTD17	ORPHA:36899
HP:0011006	Abnormal morphology of the musculature of the neck	79734	KCTD17	OMIM:616398
HP:0011006	Abnormal morphology of the musculature of the neck	1861	TOR1A	ORPHA:36899
HP:0011006	Abnormal morphology of the musculature of the neck	1861	TOR1A	OMIM:128100
HP:0011006	Abnormal morphology of the musculature of the neck	84504	NKX6-2	OMIM:617560
HP:0011006	Abnormal morphology of the musculature of the neck	10935	PRDX3	OMIM:619862
HP:0011006	Abnormal morphology of the musculature of the neck	9757	KMT2B	OMIM:617284
HP:0011006	Abnormal morphology of the musculature of the neck	9757	KMT2B	ORPHA:589618
HP:0011006	Abnormal morphology of the musculature of the neck	2313	FLI1	ORPHA:370348
HP:0011006	Abnormal morphology of the musculature of the neck	112476	PRRT2	ORPHA:98810
HP:0011006	Abnormal morphology of the musculature of the neck	1267	CNP	OMIM:619071
HP:0011006	Abnormal morphology of the musculature of the neck	8558	CDK10	OMIM:617694
HP:0011006	Abnormal morphology of the musculature of the neck	6711	SPTBN1	OMIM:619475
HP:0011006	Abnormal morphology of the musculature of the neck	4929	NR4A2	ORPHA:98808
HP:0011006	Abnormal morphology of the musculature of the neck	3615	IMPDH2	ORPHA:98808
HP:0011006	Abnormal morphology of the musculature of the neck	10382	TUBB4A	ORPHA:98805
HP:0011006	Abnormal morphology of the musculature of the neck	10382	TUBB4A	OMIM:128101
HP:0011006	Abnormal morphology of the musculature of the neck	7701	ZNF142	OMIM:618425
HP:0011006	Abnormal morphology of the musculature of the neck	55145	THAP1	ORPHA:98806
HP:0011006	Abnormal morphology of the musculature of the neck	55145	THAP1	OMIM:602629
HP:0011006	Abnormal morphology of the musculature of the neck	3098	HK1	OMIM:618547
HP:0011006	Abnormal morphology of the musculature of the neck	55823	VPS11	OMIM:619637
HP:0011006	Abnormal morphology of the musculature of the neck	3748	KCNC3	ORPHA:98768
HP:0011006	Abnormal morphology of the musculature of the neck	80036	TRPM3	OMIM:620224
HP:0011006	Abnormal morphology of the musculature of the neck	11198	SUPT16H	OMIM:619480
HP:0011006	Abnormal morphology of the musculature of the neck	79796	ALG9	ORPHA:79328
HP:0011006	Abnormal morphology of the musculature of the neck	78989	COLEC11	OMIM:265050
HP:0011006	Abnormal morphology of the musculature of the neck	128240	NAXE	OMIM:617186
HP:0011006	Abnormal morphology of the musculature of the neck	4617	MYF5	OMIM:618155
HP:0011006	Abnormal morphology of the musculature of the neck	6663	SOX10	OMIM:609136
HP:0011006	Abnormal morphology of the musculature of the neck	6908	TBP	ORPHA:98759
HP:0011006	Abnormal morphology of the musculature of the neck	126792	B3GALT6	ORPHA:536467
HP:0011006	Abnormal morphology of the musculature of the neck	2898	GRIK2	OMIM:611092
HP:0011006	Abnormal morphology of the musculature of the neck	8831	SYNGAP1	OMIM:612621
HP:0011006	Abnormal morphology of the musculature of the neck	256472	TMEM151A	OMIM:620245
HP:0011006	Abnormal morphology of the musculature of the neck	3679	ITGA7	OMIM:613204
HP:0011006	Abnormal morphology of the musculature of the neck	7042	TGFB2	OMIM:614816
HP:0011006	Abnormal morphology of the musculature of the neck	6342	SCP2	OMIM:613724
HP:0011006	Abnormal morphology of the musculature of the neck	59341	TRPV4	OMIM:181405
HP:0011006	Abnormal morphology of the musculature of the neck	57679	ALS2	OMIM:205100
HP:0011006	Abnormal morphology of the musculature of the neck	57679	ALS2	ORPHA:300605
HP:0011006	Abnormal morphology of the musculature of the neck	2521	FUS	ORPHA:300605
HP:0011006	Abnormal morphology of the musculature of the neck	80208	SPG11	ORPHA:300605
HP:0011006	Abnormal morphology of the musculature of the neck	10280	SIGMAR1	ORPHA:300605
HP:0011006	Abnormal morphology of the musculature of the neck	10558	SPTLC1	ORPHA:300605
HP:0011006	Abnormal morphology of the musculature of the neck	4137	MAPT	OMIM:601104
HP:0011006	Abnormal morphology of the musculature of the neck	9573	GDF3	ORPHA:2345
HP:0011006	Abnormal morphology of the musculature of the neck	392255	GDF6	ORPHA:2345
HP:0011006	Abnormal morphology of the musculature of the neck	392255	GDF6	OMIM:118100
HP:0011006	Abnormal morphology of the musculature of the neck	4222	MEOX1	ORPHA:2345
HP:0011006	Abnormal morphology of the musculature of the neck	5528	PPP2R5D	OMIM:616355
HP:0011006	Abnormal morphology of the musculature of the neck	5528	PPP2R5D	ORPHA:457279
HP:0011008	Temporal pattern	9897	WASHC5	OMIM:603563
HP:0011008	Temporal pattern	123606	NIPA1	OMIM:600363
HP:0011008	Temporal pattern	773	CACNA1A	OMIM:183086
HP:0011008	Temporal pattern	4359	MPZ	OMIM:118200
HP:0011008	Temporal pattern	1981	EIF4G1	OMIM:614251
HP:0011008	Temporal pattern	5376	PMP22	OMIM:118220
HP:0011008	Temporal pattern	6683	SPAST	OMIM:182601
HP:0011008	Temporal pattern	2747	GLUD2	OMIM:168600
HP:0011008	Temporal pattern	126	ADH1C	OMIM:168600
HP:0011008	Temporal pattern	4137	MAPT	OMIM:168600
HP:0011008	Temporal pattern	2629	GBA1	OMIM:168600
HP:0011008	Temporal pattern	4929	NR4A2	OMIM:168600
HP:0011008	Temporal pattern	6908	TBP	OMIM:168600
HP:0011008	Temporal pattern	4576	MT-TT	OMIM:168600
HP:0011008	Temporal pattern	9627	SNCAIP	OMIM:168600
HP:0011008	Temporal pattern	6311	ATXN2	OMIM:168600
HP:0011008	Temporal pattern	6315	ATXN8OS	OMIM:168600
HP:0011008	Temporal pattern	51062	ATL1	OMIM:182600
HP:0011008	Temporal pattern	6622	SNCA	OMIM:168601
HP:0011008	Temporal pattern	4976	OPA1	OMIM:165500
HP:0011008	Temporal pattern	5741	PTH	OMIM:146200
HP:0011008	Temporal pattern	1629	DBT	OMIM:248600
HP:0011008	Temporal pattern	593	BCKDHA	OMIM:248600
HP:0011008	Temporal pattern	594	BCKDHB	OMIM:248600
HP:0011008	Temporal pattern	8243	SMC1A	OMIM:301044
HP:0011008	Temporal pattern	135	ADORA2A	ORPHA:363549
HP:0011002	Osteopetrosis	4041	LRP5	OMIM:607634
HP:0011002	Osteopetrosis	1718	DHCR24	ORPHA:35107
HP:0011002	Osteopetrosis	29887	SNX10	OMIM:615085
HP:0011002	Osteopetrosis	29887	SNX10	ORPHA:667
HP:0011002	Osteopetrosis	1186	CLCN7	OMIM:618541
HP:0011002	Osteopetrosis	1186	CLCN7	OMIM:611490
HP:0011002	Osteopetrosis	1186	CLCN7	OMIM:166600
HP:0011002	Osteopetrosis	1186	CLCN7	ORPHA:667
HP:0011002	Osteopetrosis	1436	CSF1R	OMIM:618476
HP:0011002	Osteopetrosis	2697	GJA1	ORPHA:1522
HP:0011002	Osteopetrosis	56172	ANKH	ORPHA:1522
HP:0011002	Osteopetrosis	10312	TCIRG1	OMIM:259700
HP:0011002	Osteopetrosis	10312	TCIRG1	ORPHA:667
HP:0011002	Osteopetrosis	9791	PTDSS1	ORPHA:2658
HP:0011002	Osteopetrosis	9842	PLEKHM1	OMIM:611497
HP:0011002	Osteopetrosis	8792	TNFRSF11A	OMIM:612301
HP:0011002	Osteopetrosis	83706	FERMT3	OMIM:612840
HP:0011002	Osteopetrosis	4286	MITF	OMIM:617306
HP:0011002	Osteopetrosis	139285	AMER1	ORPHA:2780
HP:0011002	Osteopetrosis	6522	SLC4A2	OMIM:620366
HP:0011002	Osteopetrosis	760	CA2	OMIM:259730
HP:0011002	Osteopetrosis	760	CA2	ORPHA:2785
HP:0011002	Osteopetrosis	8600	TNFSF11	OMIM:259710
HP:0011002	Osteopetrosis	8600	TNFSF11	ORPHA:667
HP:0011002	Osteopetrosis	28962	OSTM1	OMIM:259720
HP:0011000	Aplasia/Hypoplasia of the optic tract	51112	TRAPPC12	ORPHA:500144
HP:0011000	Aplasia/Hypoplasia of the optic tract	652	BMP4	OMIM:607932
HP:0001010	Hypopigmentation of the skin	1497	CTNS	OMIM:219800
HP:0001010	Hypopigmentation of the skin	5122	PCSK1	ORPHA:71528
HP:0001010	Hypopigmentation of the skin	7355	SLC35A2	ORPHA:356961
HP:0001010	Hypopigmentation of the skin	5443	POMC	ORPHA:71526
HP:0001010	Hypopigmentation of the skin	84942	WDR73	OMIM:251300
HP:0001010	Hypopigmentation of the skin	7681	MKRN3	OMIM:176270
HP:0001010	Hypopigmentation of the skin	3653	IPW	OMIM:176270
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	OMIM:176270
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:398069
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	791114	PWRN1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	100033413	SNORD116-1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	8924	HERC2	OMIM:176270
HP:0001010	Hypopigmentation of the skin	145624	PWAR1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	23742	NPAP1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	338433	SNORD115-1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	64324	NSD1	ORPHA:821
HP:0001010	Hypopigmentation of the skin	29072	SETD2	ORPHA:821
HP:0001010	Hypopigmentation of the skin	10297	APC2	ORPHA:821
HP:0001010	Hypopigmentation of the skin	1638	DCT	OMIM:619165
HP:0001010	Hypopigmentation of the skin	6492	SIM1	ORPHA:398079
HP:0001010	Hypopigmentation of the skin	28960	DCPS	OMIM:616459
HP:0001010	Hypopigmentation of the skin	1130	LYST	OMIM:214500
HP:0001010	Hypopigmentation of the skin	1130	LYST	ORPHA:167
HP:0001010	Hypopigmentation of the skin	5053	PAH	ORPHA:79254
HP:0001010	Hypopigmentation of the skin	79158	GNPTAB	OMIM:252500
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:98794
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:98795
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	OMIM:105830
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:411511
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:98794
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	4948	OCA2	OMIM:203200
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:79432
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177907
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	OMIM:105830
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	284058	KANSL1	ORPHA:363958
HP:0001010	Hypopigmentation of the skin	284058	KANSL1	ORPHA:363965
HP:0001010	Hypopigmentation of the skin	4286	MITF	ORPHA:42665
HP:0001010	Hypopigmentation of the skin	114034	TOE1	OMIM:614969
HP:0001010	Hypopigmentation of the skin	7389	UROD	ORPHA:95159
HP:0001010	Hypopigmentation of the skin	26258	BLOC1S6	OMIM:614171
HP:0001010	Hypopigmentation of the skin	5498	PPOX	ORPHA:79473
HP:0001010	Hypopigmentation of the skin	56244	BTNL2	ORPHA:797
HP:0001010	Hypopigmentation of the skin	3123	HLA-DRB1	ORPHA:797
HP:0001010	Hypopigmentation of the skin	64840	PORCN	OMIM:305600
HP:0001010	Hypopigmentation of the skin	7299	TYR	OMIM:606952
HP:0001010	Hypopigmentation of the skin	7299	TYR	ORPHA:79431
HP:0001010	Hypopigmentation of the skin	7299	TYR	ORPHA:79434
HP:0001010	Hypopigmentation of the skin	1186	CLCN7	OMIM:618541
HP:0001010	Hypopigmentation of the skin	54800	KLHL24	OMIM:617294
HP:0001010	Hypopigmentation of the skin	6711	SPTBN1	OMIM:619475
HP:0001010	Hypopigmentation of the skin	9401	RECQL4	ORPHA:221016
HP:0001010	Hypopigmentation of the skin	3257	HPS1	OMIM:203300
HP:0001010	Hypopigmentation of the skin	538	ATP7A	OMIM:309400
HP:0001010	Hypopigmentation of the skin	3845	KRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	4893	NRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	3265	HRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	4644	MYO5A	ORPHA:33445
HP:0001010	Hypopigmentation of the skin	4644	MYO5A	OMIM:214450
HP:0001010	Hypopigmentation of the skin	374879	ZNF699	OMIM:619488
HP:0001010	Hypopigmentation of the skin	84343	HPS3	OMIM:614072
HP:0001010	Hypopigmentation of the skin	79803	HPS6	OMIM:614075
HP:0001010	Hypopigmentation of the skin	641	BLM	OMIM:210900
HP:0001010	Hypopigmentation of the skin	641	BLM	ORPHA:125
HP:0001010	Hypopigmentation of the skin	55717	WDR11	OMIM:620237
HP:0001010	Hypopigmentation of the skin	28956	LAMTOR2	OMIM:610798
HP:0001010	Hypopigmentation of the skin	57724	EPG5	OMIM:242840
HP:0001010	Hypopigmentation of the skin	57724	EPG5	ORPHA:1493
HP:0001010	Hypopigmentation of the skin	7030	TFE3	OMIM:301066
HP:0001010	Hypopigmentation of the skin	5873	RAB27A	OMIM:607624
HP:0001010	Hypopigmentation of the skin	348	APOE	ORPHA:158029
HP:0001010	Hypopigmentation of the skin	7390	UROS	OMIM:263700
HP:0001010	Hypopigmentation of the skin	7390	UROS	ORPHA:79277
HP:0001010	Hypopigmentation of the skin	26503	SLC17A5	OMIM:269920
HP:0001010	Hypopigmentation of the skin	4157	MC1R	OMIM:203200
HP:0001010	Hypopigmentation of the skin	4157	MC1R	ORPHA:79432
HP:0001010	Hypopigmentation of the skin	875	CBS	OMIM:236200
HP:0001010	Hypopigmentation of the skin	10195	ALG3	ORPHA:79321
HP:0001010	Hypopigmentation of the skin	7508	XPC	OMIM:278720
HP:0001010	Hypopigmentation of the skin	5429	POLH	ORPHA:90342
HP:0001010	Hypopigmentation of the skin	4292	MLH1	OMIM:276300
HP:0001010	Hypopigmentation of the skin	3991	LIPE	OMIM:615980
HP:0001010	Hypopigmentation of the skin	4254	KITLG	OMIM:619947
HP:0001010	Hypopigmentation of the skin	57194	ATP10A	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	2623	GATA1	ORPHA:79277
HP:0001010	Hypopigmentation of the skin	7306	TYRP1	ORPHA:79433
HP:0001010	Hypopigmentation of the skin	51151	SLC45A2	ORPHA:79435
HP:0001010	Hypopigmentation of the skin	64682	ANAPC1	ORPHA:221008
HP:0001010	Hypopigmentation of the skin	63915	BLOC1S5	OMIM:619172
HP:0001010	Hypopigmentation of the skin	8943	AP3D1	OMIM:617050
HP:0001010	Hypopigmentation of the skin	83938	LRMDA	OMIM:615179
HP:0001010	Hypopigmentation of the skin	11152	WDR45	OMIM:615179
HP:0001010	Hypopigmentation of the skin	8546	AP3B1	OMIM:608233
HP:0001010	Hypopigmentation of the skin	89781	HPS4	OMIM:614073
HP:0001010	Hypopigmentation of the skin	11234	HPS5	OMIM:614074
HP:0001010	Hypopigmentation of the skin	778	CACNA1F	OMIM:300600
HP:0001010	Hypopigmentation of the skin	388552	BLOC1S3	OMIM:614077
HP:0001010	Hypopigmentation of the skin	84062	DTNBP1	OMIM:614076
HP:0001010	Hypopigmentation of the skin	57167	SALL4	ORPHA:233
HP:0001010	Hypopigmentation of the skin	9935	MAFB	ORPHA:233
HP:0001010	Hypopigmentation of the skin	1123	CHN1	ORPHA:233
HP:0001010	Hypopigmentation of the skin	2261	FGFR3	ORPHA:53271
HP:0001010	Hypopigmentation of the skin	1235	CCR6	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	79932	KIAA0319L	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	1490	CCN2	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	3663	IRF5	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	857	CAV1	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	11322	TMC6	ORPHA:302
HP:0001010	Hypopigmentation of the skin	3574	IL7	ORPHA:302
HP:0001010	Hypopigmentation of the skin	147138	TMC8	ORPHA:302
HP:0001010	Hypopigmentation of the skin	10519	CIB1	ORPHA:302
HP:0001010	Hypopigmentation of the skin	6925	TCF4	ORPHA:2896
HP:0001010	Hypopigmentation of the skin	8517	IKBKG	ORPHA:464
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:613266
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:609136
HP:0001010	Hypopigmentation of the skin	6663	SOX10	ORPHA:895
HP:0001010	Hypopigmentation of the skin	6663	SOX10	ORPHA:163746
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:611584
HP:0001010	Hypopigmentation of the skin	1908	EDN3	OMIM:613265
HP:0001010	Hypopigmentation of the skin	6608	SMO	ORPHA:1553
HP:0001010	Hypopigmentation of the skin	1910	EDNRB	OMIM:277580
HP:0001010	Hypopigmentation of the skin	1910	EDNRB	ORPHA:895
HP:0001010	Hypopigmentation of the skin	326	AIRE	ORPHA:3453
HP:0001010	Hypopigmentation of the skin	6591	SNAI2	ORPHA:2884
HP:0001010	Hypopigmentation of the skin	6591	SNAI2	ORPHA:895
HP:0001010	Hypopigmentation of the skin	3815	KIT	ORPHA:2884
HP:0001010	Hypopigmentation of the skin	695	BTK	ORPHA:47
HP:0001010	Hypopigmentation of the skin	5077	PAX3	ORPHA:894
HP:0001010	Hypopigmentation of the skin	5077	PAX3	OMIM:148820
HP:0001010	Hypopigmentation of the skin	340024	SLC6A19	ORPHA:2116
HP:0001010	Hypopigmentation of the skin	57393	CLTRN	ORPHA:2116
HP:0001010	Hypopigmentation of the skin	5116	PCNT	ORPHA:2637
HP:0001010	Hypopigmentation of the skin	2263	FGFR2	ORPHA:207
HP:0001010	Hypopigmentation of the skin	2077	ERF	ORPHA:207
HP:0001010	Hypopigmentation of the skin	2581	GALC	ORPHA:206436
HP:0001010	Hypopigmentation of the skin	5660	PSAP	ORPHA:206436
HP:0001010	Hypopigmentation of the skin	672	BRCA1	ORPHA:84
HP:0001010	Hypopigmentation of the skin	10459	MAD2L2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	7516	XRCC2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	29089	UBE2T	ORPHA:84
HP:0001010	Hypopigmentation of the skin	675	BRCA2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	55120	FANCL	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2177	FANCD2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2175	FANCA	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2187	FANCB	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2176	FANCC	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2178	FANCE	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2188	FANCF	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2189	FANCG	ORPHA:84
HP:0001010	Hypopigmentation of the skin	5888	RAD51	ORPHA:84
HP:0001010	Hypopigmentation of the skin	5889	RAD51C	ORPHA:84
HP:0001010	Hypopigmentation of the skin	55159	RFWD3	ORPHA:84
HP:0001010	Hypopigmentation of the skin	83990	BRIP1	ORPHA:84
HP:0001010	Hypopigmentation of the skin	57697	FANCM	ORPHA:84
HP:0001010	Hypopigmentation of the skin	79728	PALB2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	84464	SLX4	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2072	ERCC4	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2072	ERCC4	ORPHA:910
HP:0001010	Hypopigmentation of the skin	55215	FANCI	ORPHA:84
HP:0001010	Hypopigmentation of the skin	1312	COMT	ORPHA:567
HP:0001010	Hypopigmentation of the skin	221037	JMJD1C	ORPHA:567
HP:0001010	Hypopigmentation of the skin	2812	GP1BB	ORPHA:567
HP:0001010	Hypopigmentation of the skin	6239	RREB1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	6899	TBX1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	7290	HIRA	ORPHA:567
HP:0001010	Hypopigmentation of the skin	9632	SEC24C	ORPHA:567
HP:0001010	Hypopigmentation of the skin	7353	UFD1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	421	ARVCF	ORPHA:567
HP:0001010	Hypopigmentation of the skin	54539	NDUFB11	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	1349	COX7B	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	3052	HCCS	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	10483	SEC23B	ORPHA:201
HP:0001010	Hypopigmentation of the skin	5728	PTEN	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6390	SDHB	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6392	SDHD	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6391	SDHC	ORPHA:201
HP:0001010	Hypopigmentation of the skin	207	AKT1	ORPHA:201
HP:0001010	Hypopigmentation of the skin	205717	USF3	ORPHA:201
HP:0001010	Hypopigmentation of the skin	5290	PIK3CA	ORPHA:201
HP:0001010	Hypopigmentation of the skin	100144748	KLLN	ORPHA:201
HP:0001010	Hypopigmentation of the skin	117581	TWIST2	ORPHA:1807
HP:0001010	Hypopigmentation of the skin	10058	ABCB6	ORPHA:241
HP:0001010	Hypopigmentation of the skin	80169	CTC1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	26277	TINF2	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55651	NHP2	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	79650	USB1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55135	WRAP53	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	51750	RTEL1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	4869	NPM1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7012	TERC	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55505	NOP10	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	5073	PARN	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7015	TERT	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	1736	DKC1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7298	TYMS	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	355	FAS	ORPHA:3437
HP:0001010	Hypopigmentation of the skin	26191	PTPN22	ORPHA:3437
HP:0001010	Hypopigmentation of the skin	2475	MTOR	ORPHA:457485
HP:0001010	Hypopigmentation of the skin	84168	ANTXR1	ORPHA:2067
HP:0001010	Hypopigmentation of the skin	1493	CTLA4	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	940	CD28	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	2068	ERCC2	ORPHA:910
HP:0001010	Hypopigmentation of the skin	7507	XPA	ORPHA:910
HP:0001010	Hypopigmentation of the skin	2071	ERCC3	ORPHA:910
HP:0001010	Hypopigmentation of the skin	1643	DDB2	ORPHA:910
HP:0001010	Hypopigmentation of the skin	2073	ERCC5	ORPHA:910
HP:0001010	Hypopigmentation of the skin	1075	CTSC	ORPHA:678
HP:0001010	Hypopigmentation of the skin	10682	EBP	ORPHA:401973
HP:0001010	Hypopigmentation of the skin	10682	EBP	OMIM:300960
HP:0001010	Hypopigmentation of the skin	7319	UBE2A	OMIM:300860
HP:0001010	Hypopigmentation of the skin	55612	FERMT1	OMIM:173650
HP:0001010	Hypopigmentation of the skin	9419	CRIPT	OMIM:615789
HP:0001010	Hypopigmentation of the skin	10060	ABCC9	OMIM:619719
HP:0001010	Hypopigmentation of the skin	23556	PIGN	ORPHA:280633
HP:0001010	Hypopigmentation of the skin	103	ADAR	OMIM:127400
HP:0001010	Hypopigmentation of the skin	79083	MLPH	ORPHA:79478
HP:0001010	Hypopigmentation of the skin	6611	SMS	ORPHA:3063
HP:0001010	Hypopigmentation of the skin	4000	LMNA	ORPHA:79474
HP:0001010	Hypopigmentation of the skin	9652	SKIC3	OMIM:222470
HP:0001010	Hypopigmentation of the skin	9652	SKIC3	ORPHA:84064
HP:0001010	Hypopigmentation of the skin	8882	ZPR1	OMIM:619321
HP:0001010	Hypopigmentation of the skin	283652	SLC24A5	OMIM:113750
HP:0001010	Hypopigmentation of the skin	8626	TP63	ORPHA:1896
HP:0001010	Hypopigmentation of the skin	8626	TP63	OMIM:604292
HP:0001010	Hypopigmentation of the skin	6499	SKIC2	ORPHA:84064
HP:0001010	Hypopigmentation of the skin	23592	LEMD3	ORPHA:1306
HP:0001010	Hypopigmentation of the skin	4952	OCRL	ORPHA:534
HP:0001010	Hypopigmentation of the skin	54	ACP5	OMIM:607944
HP:0001010	Hypopigmentation of the skin	84570	COL25A1	ORPHA:91411
HP:0001010	Hypopigmentation of the skin	79776	ZFHX4	ORPHA:91411
HP:0001010	Hypopigmentation of the skin	56983	POGLUT1	ORPHA:79145
HP:0001010	Hypopigmentation of the skin	55851	PSENEN	ORPHA:79145
HP:0001010	Hypopigmentation of the skin	7249	TSC2	OMIM:613254
HP:0001010	Hypopigmentation of the skin	7249	TSC2	ORPHA:805
HP:0001010	Hypopigmentation of the skin	3458	IFNG	OMIM:613254
HP:0001010	Hypopigmentation of the skin	3458	IFNG	ORPHA:805
HP:0001010	Hypopigmentation of the skin	7248	TSC1	ORPHA:805
HP:0001010	Hypopigmentation of the skin	7248	TSC1	OMIM:191100
HP:0001010	Hypopigmentation of the skin	23509	POFUT1	OMIM:615327
HP:0001010	Hypopigmentation of the skin	3852	KRT5	ORPHA:79397
HP:0001010	Hypopigmentation of the skin	3852	KRT5	ORPHA:79399
HP:0001010	Hypopigmentation of the skin	3861	KRT14	ORPHA:79397
HP:0001010	Hypopigmentation of the skin	3861	KRT14	ORPHA:79399
HP:0001010	Hypopigmentation of the skin	134218	DNAJC21	OMIM:617052
HP:0001010	Hypopigmentation of the skin	23328	SASH1	OMIM:618373
HP:0005588	Patchy palmoplantar hyperkeratosis	162514	TRPV3	OMIM:616400
HP:0005588	Patchy palmoplantar hyperkeratosis	1832	DSP	ORPHA:65282
HP:0005588	Patchy palmoplantar hyperkeratosis	2697	GJA1	ORPHA:317
HP:0005588	Patchy palmoplantar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0005588	Patchy palmoplantar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0005588	Patchy palmoplantar hyperkeratosis	2531	KDSR	ORPHA:317
HP:0005588	Patchy palmoplantar hyperkeratosis	127534	GJB4	ORPHA:317
HP:0005587	Profuse pigmented skin lesions	5573	PRKAR1A	OMIM:160980
HP:0005587	Profuse pigmented skin lesions	3815	KIT	ORPHA:280785
HP:0005586	Hyperpigmentation in sun-exposed areas	3861	KRT14	ORPHA:69087
HP:0005586	Hyperpigmentation in sun-exposed areas	7389	UROD	OMIM:176100
HP:0005586	Hyperpigmentation in sun-exposed areas	3077	HFE	OMIM:176100
HP:0005586	Hyperpigmentation in sun-exposed areas	25778	DSTYK	OMIM:270750
HP:0005586	Hyperpigmentation in sun-exposed areas	5429	POLH	OMIM:278750
HP:0005586	Hyperpigmentation in sun-exposed areas	5429	POLH	ORPHA:90342
HP:0005586	Hyperpigmentation in sun-exposed areas	4948	OCA2	OMIM:203200
HP:0005586	Hyperpigmentation in sun-exposed areas	4157	MC1R	OMIM:203200
HP:0005586	Hyperpigmentation in sun-exposed areas	3257	HPS1	OMIM:203300
HP:0005585	Spotty hyperpigmentation	1130	LYST	ORPHA:167
HP:0005585	Spotty hyperpigmentation	79644	SRD5A3	ORPHA:324737
HP:0005585	Spotty hyperpigmentation	3852	KRT5	ORPHA:158681
HP:0005585	Spotty hyperpigmentation	3852	KRT5	ORPHA:79399
HP:0005585	Spotty hyperpigmentation	5566	PRKACA	ORPHA:189439
HP:0005585	Spotty hyperpigmentation	8622	PDE8B	ORPHA:189439
HP:0005585	Spotty hyperpigmentation	5573	PRKAR1A	ORPHA:189439
HP:0005585	Spotty hyperpigmentation	5573	PRKAR1A	ORPHA:1359
HP:0005585	Spotty hyperpigmentation	50940	PDE11A	ORPHA:189439
HP:0005585	Spotty hyperpigmentation	50940	PDE11A	ORPHA:1359
HP:0005585	Spotty hyperpigmentation	8815	BANF1	OMIM:614008
HP:0005585	Spotty hyperpigmentation	55612	FERMT1	OMIM:173650
HP:0005585	Spotty hyperpigmentation	9419	CRIPT	OMIM:615789
HP:0005585	Spotty hyperpigmentation	3861	KRT14	ORPHA:79399
HP:0005590	Spotty hypopigmentation	10682	EBP	ORPHA:401973
HP:0005590	Spotty hypopigmentation	10682	EBP	OMIM:300960
HP:0005590	Spotty hypopigmentation	7319	UBE2A	OMIM:300860
HP:0005590	Spotty hypopigmentation	10058	ABCB6	ORPHA:241
HP:0005590	Spotty hypopigmentation	641	BLM	OMIM:210900
HP:0005590	Spotty hypopigmentation	55612	FERMT1	OMIM:173650
HP:0005590	Spotty hypopigmentation	9419	CRIPT	OMIM:615789
HP:0005590	Spotty hypopigmentation	3852	KRT5	ORPHA:79397
HP:0005590	Spotty hypopigmentation	3852	KRT5	ORPHA:79399
HP:0005590	Spotty hypopigmentation	3861	KRT14	ORPHA:79397
HP:0005590	Spotty hypopigmentation	3861	KRT14	ORPHA:79399
HP:0005590	Spotty hypopigmentation	10060	ABCC9	OMIM:619719
HP:0100540	Palpebral edema	1277	COL1A1	ORPHA:287
HP:0100540	Palpebral edema	1289	COL5A1	ORPHA:287
HP:0100540	Palpebral edema	1290	COL5A2	ORPHA:287
HP:0100540	Palpebral edema	1009	CDH11	ORPHA:1299
HP:0100540	Palpebral edema	9509	ADAMTS2	OMIM:225410
HP:0100540	Palpebral edema	2934	GSN	ORPHA:85448
HP:0100540	Palpebral edema	7994	KAT6A	OMIM:616268
HP:0100540	Palpebral edema	22907	DHX30	OMIM:617804
HP:0100540	Palpebral edema	55315	SLC29A3	ORPHA:168569
HP:0100540	Palpebral edema	116931	MED12L	OMIM:618872
HP:0100540	Palpebral edema	54453	RIN2	ORPHA:217335
HP:0100540	Palpebral edema	55691	FRMD4A	OMIM:616819
HP:0100540	Palpebral edema	54345	SOX18	OMIM:137940
HP:0100540	Palpebral edema	54345	SOX18	OMIM:607823
HP:0100540	Palpebral edema	54345	SOX18	ORPHA:69735
HP:0100540	Palpebral edema	2290	FOXG1	ORPHA:261144
HP:0100540	Palpebral edema	6711	SPTBN1	OMIM:619475
HP:0100540	Palpebral edema	85358	SHANK3	ORPHA:48652
HP:0100540	Palpebral edema	85358	SHANK3	OMIM:606232
HP:0100540	Palpebral edema	7045	TGFBI	OMIM:608470
HP:0100540	Palpebral edema	284252	KCTD1	ORPHA:2036
HP:0100540	Palpebral edema	284252	KCTD1	OMIM:181270
HP:0100540	Palpebral edema	9326	ZNHIT3	ORPHA:2836
HP:0100540	Palpebral edema	547	KIF1A	ORPHA:2836
HP:0100540	Palpebral edema	5828	PEX2	OMIM:614866
HP:0100540	Palpebral edema	5457	POU4F1	ORPHA:314647
HP:0100540	Palpebral edema	23261	CAMTA1	ORPHA:314647
HP:0100540	Palpebral edema	23261	CAMTA1	OMIM:614756
HP:0100540	Palpebral edema	5830	PEX5	OMIM:214110
HP:0100540	Palpebral edema	83550	GPR101	ORPHA:963
HP:0100540	Palpebral edema	9049	AIP	ORPHA:963
HP:0100540	Palpebral edema	5293	PIK3CD	ORPHA:221139
HP:0100540	Palpebral edema	90417	KNSTRN	ORPHA:221139
HP:0100540	Palpebral edema	22947	DUX4L1	ORPHA:269
HP:0100540	Palpebral edema	1789	DNMT3B	ORPHA:269
HP:0100540	Palpebral edema	2483	FRG1	ORPHA:269
HP:0100540	Palpebral edema	23347	SMCHD1	ORPHA:269
HP:0100540	Palpebral edema	100288687	DUX4	ORPHA:269
HP:0100540	Palpebral edema	71	ACTG1	ORPHA:2995
HP:0100540	Palpebral edema	60	ACTB	ORPHA:2995
HP:0100540	Palpebral edema	7512	XPNPEP2	ORPHA:100057
HP:0100540	Palpebral edema	11133	KPTN	ORPHA:397612
HP:0100540	Palpebral edema	84168	ANTXR1	ORPHA:2067
HP:0100540	Palpebral edema	5723	PSPH	ORPHA:79350
HP:0100540	Palpebral edema	79158	GNPTAB	OMIM:252500
HP:0100540	Palpebral edema	57231	SNX14	ORPHA:397709
HP:0100540	Palpebral edema	55343	SLC35C1	ORPHA:99843
HP:0100541	Femoral hernia	6899	TBX1	OMIM:188400
HP:0100541	Femoral hernia	538	ATP7A	ORPHA:198
HP:0100541	Femoral hernia	1857	DVL3	ORPHA:3107
HP:0100541	Femoral hernia	7474	WNT5A	ORPHA:3107
HP:0100541	Femoral hernia	1855	DVL1	ORPHA:3107
HP:0100541	Femoral hernia	2535	FZD2	ORPHA:3107
HP:0100541	Femoral hernia	9791	PTDSS1	ORPHA:2658
HP:0100541	Femoral hernia	129563	DIS3L2	ORPHA:2849
HP:0100541	Femoral hernia	1836	SLC26A2	ORPHA:93298
HP:0100541	Femoral hernia	9321	TRIP11	ORPHA:93299
HP:0100541	Femoral hernia	81031	SLC2A10	ORPHA:3342
HP:0100541	Femoral hernia	79813	EHMT1	ORPHA:96147
HP:0100541	Femoral hernia	9719	ADAMTSL2	ORPHA:1901
HP:0100541	Femoral hernia	9509	ADAMTS2	ORPHA:1901
HP:0100541	Femoral hernia	1278	COL1A2	ORPHA:1899
HP:0100541	Femoral hernia	1277	COL1A1	ORPHA:1899
HP:0100541	Femoral hernia	2187	FANCB	ORPHA:3412
HP:0100541	Femoral hernia	4089	SMAD4	ORPHA:2588
HP:0100542	Abnormal localization of kidney	2137	EXTL3	ORPHA:508533
HP:0100542	Abnormal localization of kidney	22827	PUF60	ORPHA:508498
HP:0100542	Abnormal localization of kidney	6309	SC5D	ORPHA:46059
HP:0100542	Abnormal localization of kidney	6309	SC5D	OMIM:607330
HP:0100542	Abnormal localization of kidney	10054	UBA2	OMIM:619959
HP:0100542	Abnormal localization of kidney	6650	CAPN15	OMIM:619318
HP:0100542	Abnormal localization of kidney	10274	STAG1	ORPHA:502434
HP:0100542	Abnormal localization of kidney	1736	DKC1	OMIM:305000
HP:0100542	Abnormal localization of kidney	64220	STRA6	OMIM:601186
HP:0100542	Abnormal localization of kidney	64220	STRA6	ORPHA:2470
HP:0100542	Abnormal localization of kidney	27125	AFF4	ORPHA:444077
HP:0100542	Abnormal localization of kidney	27125	AFF4	OMIM:616368
HP:0100542	Abnormal localization of kidney	7490	WT1	ORPHA:3097
HP:0100542	Abnormal localization of kidney	7490	WT1	OMIM:608978
HP:0100542	Abnormal localization of kidney	29998	BICRA	OMIM:619325
HP:0100542	Abnormal localization of kidney	6651	SON	OMIM:617140
HP:0100542	Abnormal localization of kidney	6651	SON	ORPHA:500150
HP:0100542	Abnormal localization of kidney	65993	MRPS34	OMIM:617664
HP:0100542	Abnormal localization of kidney	55215	FANCI	OMIM:609053
HP:0100542	Abnormal localization of kidney	83479	DDX59	OMIM:174300
HP:0100542	Abnormal localization of kidney	55636	CHD7	ORPHA:138
HP:0100542	Abnormal localization of kidney	55636	CHD7	OMIM:214800
HP:0100542	Abnormal localization of kidney	9723	SEMA3E	ORPHA:138
HP:0100542	Abnormal localization of kidney	7547	ZIC3	OMIM:306955
HP:0100542	Abnormal localization of kidney	2263	FGFR2	ORPHA:93260
HP:0100542	Abnormal localization of kidney	10584	COLEC10	OMIM:248340
HP:0100542	Abnormal localization of kidney	3899	AFF3	OMIM:619297
HP:0100542	Abnormal localization of kidney	113189	CHST14	ORPHA:2953
HP:0100542	Abnormal localization of kidney	29940	DSE	ORPHA:2953
HP:0100542	Abnormal localization of kidney	6597	SMARCA4	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6598	SMARCB1	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6659	SOX4	ORPHA:1465
HP:0100542	Abnormal localization of kidney	8289	ARID1A	ORPHA:1465
HP:0100542	Abnormal localization of kidney	5977	DPF2	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6601	SMARCC2	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6602	SMARCD1	ORPHA:1465
HP:0100542	Abnormal localization of kidney	196528	ARID2	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6605	SMARCE1	ORPHA:1465
HP:0100542	Abnormal localization of kidney	6664	SOX11	ORPHA:1465
HP:0100542	Abnormal localization of kidney	1147	CHUK	OMIM:613630
HP:0100542	Abnormal localization of kidney	157570	ESCO2	ORPHA:2319
HP:0100542	Abnormal localization of kidney	157570	ESCO2	OMIM:268300
HP:0100542	Abnormal localization of kidney	157570	ESCO2	OMIM:216100
HP:0100542	Abnormal localization of kidney	64093	SMOC1	ORPHA:1106
HP:0100542	Abnormal localization of kidney	25778	DSTYK	ORPHA:101003
HP:0100542	Abnormal localization of kidney	7319	UBE2A	OMIM:300860
HP:0100542	Abnormal localization of kidney	10524	KAT5	OMIM:619103
HP:0100542	Abnormal localization of kidney	7403	KDM6A	OMIM:300867
HP:0100542	Abnormal localization of kidney	6885	MAP3K7	OMIM:157800
HP:0100542	Abnormal localization of kidney	8241	RBM10	OMIM:311900
HP:0100542	Abnormal localization of kidney	8241	RBM10	ORPHA:2886
HP:0100542	Abnormal localization of kidney	3192	HNRNPU	ORPHA:238769
HP:0100542	Abnormal localization of kidney	64840	PORCN	OMIM:305600
HP:0100542	Abnormal localization of kidney	64840	PORCN	ORPHA:2092
HP:0100542	Abnormal localization of kidney	4613	MYCN	ORPHA:391641
HP:0100542	Abnormal localization of kidney	5447	POR	OMIM:201750
HP:0100542	Abnormal localization of kidney	57545	CC2D2A	OMIM:612284
HP:0100542	Abnormal localization of kidney	6135	RPL11	OMIM:612562
HP:0100542	Abnormal localization of kidney	6135	RPL11	ORPHA:124
HP:0100542	Abnormal localization of kidney	10283	CWC27	OMIM:250410
HP:0100542	Abnormal localization of kidney	10283	CWC27	ORPHA:166035
HP:0100542	Abnormal localization of kidney	3845	KRAS	OMIM:163200
HP:0100542	Abnormal localization of kidney	4893	NRAS	OMIM:163200
HP:0100542	Abnormal localization of kidney	3265	HRAS	OMIM:163200
HP:0100542	Abnormal localization of kidney	6928	HNF1B	ORPHA:93111
HP:0100542	Abnormal localization of kidney	2887	GRB10	ORPHA:96182
HP:0100542	Abnormal localization of kidney	79228	THOC6	ORPHA:363444
HP:0100542	Abnormal localization of kidney	79228	THOC6	OMIM:613680
HP:0100542	Abnormal localization of kidney	78989	COLEC11	OMIM:265050
HP:0100542	Abnormal localization of kidney	3187	HNRNPH1	OMIM:620083
HP:0100542	Abnormal localization of kidney	6748	SSR4	ORPHA:370927
HP:0100542	Abnormal localization of kidney	5915	RARB	ORPHA:2470
HP:0100542	Abnormal localization of kidney	9319	TRIP13	OMIM:617598
HP:0100542	Abnormal localization of kidney	84464	SLX4	OMIM:613951
HP:0100542	Abnormal localization of kidney	9939	RBM8A	ORPHA:3320
HP:0100542	Abnormal localization of kidney	9939	RBM8A	OMIM:274000
HP:0100542	Abnormal localization of kidney	3110	MNX1	OMIM:176450
HP:0100542	Abnormal localization of kidney	10225	CD96	ORPHA:1308
HP:0100542	Abnormal localization of kidney	5076	PAX2	OMIM:120330
HP:0100542	Abnormal localization of kidney	6138	RPL15	ORPHA:124
HP:0100542	Abnormal localization of kidney	6229	RPS24	ORPHA:124
HP:0100542	Abnormal localization of kidney	6125	RPL5	ORPHA:124
HP:0100542	Abnormal localization of kidney	6204	RPS10	ORPHA:124
HP:0100542	Abnormal localization of kidney	6224	RPS20	ORPHA:124
HP:0100542	Abnormal localization of kidney	6165	RPL35A	ORPHA:124
HP:0100542	Abnormal localization of kidney	2623	GATA1	ORPHA:124
HP:0100542	Abnormal localization of kidney	6223	RPS19	ORPHA:124
HP:0100542	Abnormal localization of kidney	6232	RPS27	ORPHA:124
HP:0100542	Abnormal localization of kidney	11224	RPL35	ORPHA:124
HP:0100542	Abnormal localization of kidney	6160	RPL31	ORPHA:124
HP:0100542	Abnormal localization of kidney	6218	RPS17	ORPHA:124
HP:0100542	Abnormal localization of kidney	6201	RPS7	ORPHA:124
HP:0100542	Abnormal localization of kidney	6155	RPL27	ORPHA:124
HP:0100542	Abnormal localization of kidney	6154	RPL26	ORPHA:124
HP:0100542	Abnormal localization of kidney	6210	RPS15A	ORPHA:124
HP:0100542	Abnormal localization of kidney	90121	TSR2	ORPHA:124
HP:0100542	Abnormal localization of kidney	6141	RPL18	ORPHA:124
HP:0100542	Abnormal localization of kidney	6235	RPS29	ORPHA:124
HP:0100542	Abnormal localization of kidney	6234	RPS28	ORPHA:124
HP:0100542	Abnormal localization of kidney	51816	ADA2	ORPHA:124
HP:0100542	Abnormal localization of kidney	51626	DYNC2LI1	OMIM:617088
HP:0100542	Abnormal localization of kidney	6736	SRY	ORPHA:1772
HP:0100542	Abnormal localization of kidney	1642	DDB1	OMIM:619426
HP:0100542	Abnormal localization of kidney	157657	CFAP418	OMIM:617406
HP:0100542	Abnormal localization of kidney	26123	TCTN3	OMIM:614815
HP:0100542	Abnormal localization of kidney	80000	GREB1L	OMIM:617805
HP:0100542	Abnormal localization of kidney	168667	BMPER	OMIM:608022
HP:0100542	Abnormal localization of kidney	57167	SALL4	ORPHA:233
HP:0100542	Abnormal localization of kidney	9935	MAFB	ORPHA:233
HP:0100542	Abnormal localization of kidney	1123	CHN1	ORPHA:233
HP:0100542	Abnormal localization of kidney	2737	GLI3	ORPHA:672
HP:0100542	Abnormal localization of kidney	2737	GLI3	OMIM:146510
HP:0100542	Abnormal localization of kidney	6611	SMS	ORPHA:3063
HP:0100542	Abnormal localization of kidney	6628	SNRPB	OMIM:117650
HP:0100542	Abnormal localization of kidney	83700	JAM3	OMIM:613730
HP:0100542	Abnormal localization of kidney	54361	WNT4	ORPHA:3109
HP:0100542	Abnormal localization of kidney	9508	ADAMTS3	ORPHA:2136
HP:0100542	Abnormal localization of kidney	147372	CCBE1	ORPHA:2136
HP:0100542	Abnormal localization of kidney	147372	CCBE1	OMIM:235510
HP:0100542	Abnormal localization of kidney	79633	FAT4	ORPHA:2136
HP:0100542	Abnormal localization of kidney	10992	SF3B2	OMIM:164210
HP:0100542	Abnormal localization of kidney	81839	VANGL1	ORPHA:3027
HP:0100542	Abnormal localization of kidney	80199	FUZ	ORPHA:3027
HP:0100542	Abnormal localization of kidney	8204	NRIP1	OMIM:618270
HP:0100542	Abnormal localization of kidney	5932	RBBP8	OMIM:606744
HP:0100542	Abnormal localization of kidney	2175	FANCA	OMIM:227650
HP:0100542	Abnormal localization of kidney	92002	CCNQ	ORPHA:140952
HP:0100542	Abnormal localization of kidney	8239	USP9X	OMIM:300919
HP:0100542	Abnormal localization of kidney	23384	SPECC1L	ORPHA:1519
HP:0100542	Abnormal localization of kidney	6299	SALL1	ORPHA:857
HP:0100542	Abnormal localization of kidney	51339	DACT1	ORPHA:857
HP:0100542	Abnormal localization of kidney	6231	RPS26	OMIM:613309
HP:0100542	Abnormal localization of kidney	1763	DNA2	OMIM:615807
HP:0100542	Abnormal localization of kidney	2177	FANCD2	OMIM:227646
HP:0100542	Abnormal localization of kidney	2176	FANCC	OMIM:227645
HP:0100542	Abnormal localization of kidney	57492	ARID1B	OMIM:135900
HP:0100542	Abnormal localization of kidney	7518	XRCC4	OMIM:616541
HP:0100542	Abnormal localization of kidney	25836	NIPBL	OMIM:122470
HP:0100542	Abnormal localization of kidney	3239	HOXD13	ORPHA:887
HP:0100542	Abnormal localization of kidney	8091	HMGA2	ORPHA:94063
HP:0100542	Abnormal localization of kidney	23592	LEMD3	ORPHA:94063
HP:0100542	Abnormal localization of kidney	2178	FANCE	OMIM:600901
HP:0100542	Abnormal localization of kidney	54101	RIPK4	OMIM:263650
HP:0100542	Abnormal localization of kidney	5087	PBX1	OMIM:617641
HP:0100542	Abnormal localization of kidney	7516	XRCC2	OMIM:617247
HP:0100542	Abnormal localization of kidney	90417	KNSTRN	OMIM:613328
HP:0100542	Abnormal localization of kidney	5293	PIK3CD	OMIM:613328
HP:0100542	Abnormal localization of kidney	4038	LRP4	OMIM:212780
HP:0100542	Abnormal localization of kidney	11005	SPINK5	ORPHA:634
HP:0100542	Abnormal localization of kidney	2188	FANCF	OMIM:603467
HP:0100542	Abnormal localization of kidney	6804	STX1A	ORPHA:904
HP:0100542	Abnormal localization of kidney	7461	CLIP2	ORPHA:904
HP:0100542	Abnormal localization of kidney	84277	DNAJC30	ORPHA:904
HP:0100542	Abnormal localization of kidney	8468	FKBP6	ORPHA:904
HP:0100542	Abnormal localization of kidney	5982	RFC2	ORPHA:904
HP:0100542	Abnormal localization of kidney	2969	GTF2I	ORPHA:904
HP:0100542	Abnormal localization of kidney	3984	LIMK1	ORPHA:904
HP:0100542	Abnormal localization of kidney	9569	GTF2IRD1	ORPHA:904
HP:0100542	Abnormal localization of kidney	155382	VPS37D	ORPHA:904
HP:0100542	Abnormal localization of kidney	155368	METTL27	ORPHA:904
HP:0100542	Abnormal localization of kidney	114049	BUD23	ORPHA:904
HP:0100542	Abnormal localization of kidney	7458	EIF4H	ORPHA:904
HP:0100542	Abnormal localization of kidney	84163	GTF2IRD2	ORPHA:904
HP:0100542	Abnormal localization of kidney	9275	BCL7B	ORPHA:904
HP:0100542	Abnormal localization of kidney	26608	TBL2	ORPHA:904
HP:0100542	Abnormal localization of kidney	653361	NCF1	ORPHA:904
HP:0100542	Abnormal localization of kidney	135886	TMEM270	ORPHA:904
HP:0100542	Abnormal localization of kidney	51085	MLXIPL	ORPHA:904
HP:0100542	Abnormal localization of kidney	51085	MLXIPL	OMIM:194050
HP:0100542	Abnormal localization of kidney	9031	BAZ1B	ORPHA:904
HP:0100542	Abnormal localization of kidney	2006	ELN	ORPHA:904
HP:0100542	Abnormal localization of kidney	2006	ELN	OMIM:194050
HP:0100542	Abnormal localization of kidney	51322	WAC	ORPHA:466950
HP:0100542	Abnormal localization of kidney	25914	RTTN	ORPHA:468631
HP:0100542	Abnormal localization of kidney	1859	DYRK1A	ORPHA:464311
HP:0100542	Abnormal localization of kidney	9839	ZEB2	ORPHA:261537
HP:0100542	Abnormal localization of kidney	9839	ZEB2	ORPHA:261552
HP:0100542	Abnormal localization of kidney	7750	ZMYM2	OMIM:619522
HP:0100542	Abnormal localization of kidney	1656	DDX6	OMIM:618653
HP:0100542	Abnormal localization of kidney	5888	RAD51	OMIM:617244
HP:0100542	Abnormal localization of kidney	2260	FGFR1	OMIM:613001
HP:0100542	Abnormal localization of kidney	2783	GNB2	OMIM:619503
HP:0100542	Abnormal localization of kidney	10682	EBP	OMIM:300960
HP:0100542	Abnormal localization of kidney	9578	CDC42BPB	OMIM:619841
HP:0100542	Abnormal localization of kidney	348180	CTU2	OMIM:618142
HP:0100542	Abnormal localization of kidney	8085	KMT2D	ORPHA:2322
HP:0100542	Abnormal localization of kidney	8085	KMT2D	OMIM:147920
HP:0100542	Abnormal localization of kidney	324	APC	ORPHA:3258
HP:0100542	Abnormal localization of kidney	4174	MCM5	OMIM:617564
HP:0100542	Abnormal localization of kidney	894	CCND2	ORPHA:83473
HP:0100542	Abnormal localization of kidney	5296	PIK3R2	ORPHA:83473
HP:0100542	Abnormal localization of kidney	10000	AKT3	ORPHA:83473
HP:0100542	Abnormal localization of kidney	9401	RECQL4	ORPHA:1225
HP:0100542	Abnormal localization of kidney	55784	MCTP2	ORPHA:1596
HP:0100542	Abnormal localization of kidney	2314	FLII	ORPHA:819
HP:0100542	Abnormal localization of kidney	23096	IQSEC2	ORPHA:819
HP:0100542	Abnormal localization of kidney	10743	RAI1	ORPHA:819
HP:0100542	Abnormal localization of kidney	10522	DEAF1	ORPHA:819
HP:0100542	Abnormal localization of kidney	1717	DHCR7	ORPHA:818
HP:0100542	Abnormal localization of kidney	672	BRCA1	ORPHA:84
HP:0100542	Abnormal localization of kidney	10459	MAD2L2	ORPHA:84
HP:0100542	Abnormal localization of kidney	29089	UBE2T	ORPHA:84
HP:0100542	Abnormal localization of kidney	675	BRCA2	ORPHA:84
HP:0100542	Abnormal localization of kidney	55120	FANCL	ORPHA:84
HP:0100542	Abnormal localization of kidney	2187	FANCB	ORPHA:84
HP:0100542	Abnormal localization of kidney	2189	FANCG	ORPHA:84
HP:0100542	Abnormal localization of kidney	5889	RAD51C	ORPHA:84
HP:0100542	Abnormal localization of kidney	55159	RFWD3	ORPHA:84
HP:0100542	Abnormal localization of kidney	83990	BRIP1	ORPHA:84
HP:0100542	Abnormal localization of kidney	57697	FANCM	ORPHA:84
HP:0100542	Abnormal localization of kidney	79728	PALB2	ORPHA:84
HP:0100542	Abnormal localization of kidney	2072	ERCC4	ORPHA:84
HP:0100542	Abnormal localization of kidney	22930	RAB3GAP1	ORPHA:2510
HP:0100542	Abnormal localization of kidney	25782	RAB3GAP2	ORPHA:2510
HP:0100542	Abnormal localization of kidney	22931	RAB18	ORPHA:2510
HP:0100542	Abnormal localization of kidney	128637	TBC1D20	ORPHA:2510
HP:0100542	Abnormal localization of kidney	5781	PTPN11	ORPHA:500
HP:0100542	Abnormal localization of kidney	673	BRAF	ORPHA:500
HP:0100542	Abnormal localization of kidney	5894	RAF1	ORPHA:500
HP:0100542	Abnormal localization of kidney	50945	TBX22	ORPHA:921
HP:0100544	Neoplasm of the heart	7249	TSC2	OMIM:613254
HP:0100544	Neoplasm of the heart	7249	TSC2	ORPHA:805
HP:0100544	Neoplasm of the heart	3458	IFNG	OMIM:613254
HP:0100544	Neoplasm of the heart	3458	IFNG	ORPHA:805
HP:0100544	Neoplasm of the heart	7248	TSC1	ORPHA:805
HP:0100544	Neoplasm of the heart	7248	TSC1	OMIM:191100
HP:0100544	Neoplasm of the heart	55553	SOX6	OMIM:618971
HP:0100544	Neoplasm of the heart	5727	PTCH1	ORPHA:77301
HP:0100544	Neoplasm of the heart	5727	PTCH1	OMIM:109400
HP:0100544	Neoplasm of the heart	5573	PRKAR1A	OMIM:160980
HP:0100544	Neoplasm of the heart	5573	PRKAR1A	ORPHA:189439
HP:0100544	Neoplasm of the heart	5573	PRKAR1A	ORPHA:615
HP:0100544	Neoplasm of the heart	5573	PRKAR1A	ORPHA:1359
HP:0100544	Neoplasm of the heart	5573	PRKAR1A	OMIM:255960
HP:0100544	Neoplasm of the heart	284252	KCTD1	OMIM:181270
HP:0100544	Neoplasm of the heart	5566	PRKACA	ORPHA:189439
HP:0100544	Neoplasm of the heart	8622	PDE8B	ORPHA:189439
HP:0100544	Neoplasm of the heart	50940	PDE11A	ORPHA:189439
HP:0100544	Neoplasm of the heart	50940	PDE11A	ORPHA:1359
HP:0100544	Neoplasm of the heart	4626	MYH8	OMIM:608837
HP:0100544	Neoplasm of the heart	25802	LMOD1	ORPHA:2241
HP:0100544	Neoplasm of the heart	4629	MYH11	ORPHA:2241
HP:0100544	Neoplasm of the heart	72	ACTG2	ORPHA:2241
HP:0100544	Neoplasm of the heart	4638	MYLK	ORPHA:2241
HP:0100545	Arterial stenosis	6609	SMPD1	ORPHA:77293
HP:0100545	Arterial stenosis	63036	CELA2A	OMIM:618620
HP:0100545	Arterial stenosis	336	APOA2	OMIM:143890
HP:0100545	Arterial stenosis	2053	EPHX2	OMIM:143890
HP:0100545	Arterial stenosis	10842	PPP1R17	OMIM:143890
HP:0100545	Arterial stenosis	2690	GHR	OMIM:143890
HP:0100545	Arterial stenosis	5468	PPARG	ORPHA:79083
HP:0100545	Arterial stenosis	79184	BRCC3	ORPHA:280679
HP:0100545	Arterial stenosis	1581	CYP7A1	ORPHA:209902
HP:0100545	Arterial stenosis	2099	ESR1	ORPHA:785
HP:0100545	Arterial stenosis	57104	PNPLA2	ORPHA:565612
HP:0100545	Arterial stenosis	64131	XYLT1	OMIM:264800
HP:0100545	Arterial stenosis	64132	XYLT2	OMIM:264800
HP:0100545	Arterial stenosis	57592	ZNF687	OMIM:616833
HP:0100545	Arterial stenosis	4763	NF1	OMIM:162200
HP:0100545	Arterial stenosis	4763	NF1	ORPHA:97685
HP:0100545	Arterial stenosis	6772	STAT1	ORPHA:391487
HP:0100545	Arterial stenosis	10043	TOM1	ORPHA:391487
HP:0100545	Arterial stenosis	9896	FIG4	ORPHA:3472
HP:0100545	Arterial stenosis	55697	VAC14	ORPHA:3472
HP:0100545	Arterial stenosis	55654	TMEM127	OMIM:171300
HP:0100545	Arterial stenosis	5979	RET	OMIM:171300
HP:0100545	Arterial stenosis	6390	SDHB	OMIM:171300
HP:0100545	Arterial stenosis	6392	SDHD	OMIM:171300
HP:0100545	Arterial stenosis	4149	MAX	OMIM:171300
HP:0100545	Arterial stenosis	7428	VHL	OMIM:171300
HP:0100545	Arterial stenosis	50628	GEMIN4	OMIM:617913
HP:0100545	Arterial stenosis	182	JAG1	OMIM:118450
HP:0100545	Arterial stenosis	5456	POU3F4	ORPHA:1435
HP:0100545	Arterial stenosis	3053	SERPIND1	OMIM:612356
HP:0100545	Arterial stenosis	3949	LDLR	ORPHA:391665
HP:0100545	Arterial stenosis	255738	PCSK9	ORPHA:391665
HP:0100545	Arterial stenosis	26119	LDLRAP1	ORPHA:391665
HP:0100545	Arterial stenosis	338	APOB	ORPHA:391665
HP:0100545	Arterial stenosis	64240	ABCG5	ORPHA:391665
HP:0100545	Arterial stenosis	4352	MPL	ORPHA:71493
HP:0100545	Arterial stenosis	7066	THPO	ORPHA:71493
HP:0100545	Arterial stenosis	3717	JAK2	ORPHA:71493
HP:0100545	Arterial stenosis	3423	IDS	ORPHA:217085
HP:0100545	Arterial stenosis	3423	IDS	ORPHA:217093
HP:0100545	Arterial stenosis	189	AGXT	OMIM:259900
HP:0100545	Arterial stenosis	4000	LMNA	ORPHA:79474
HP:0100545	Arterial stenosis	7046	TGFBR1	ORPHA:91387
HP:0100545	Arterial stenosis	7048	TGFBR2	ORPHA:91387
HP:0100545	Arterial stenosis	4015	LOX	ORPHA:91387
HP:0100545	Arterial stenosis	4087	SMAD2	ORPHA:91387
HP:0100545	Arterial stenosis	7043	TGFB3	ORPHA:91387
HP:0100545	Arterial stenosis	4088	SMAD3	ORPHA:91387
HP:0100545	Arterial stenosis	7042	TGFB2	ORPHA:91387
HP:0100545	Arterial stenosis	4089	SMAD4	ORPHA:91387
HP:0100545	Arterial stenosis	2200	FBN1	ORPHA:91387
HP:0100545	Arterial stenosis	59	ACTA2	ORPHA:91387
HP:0100545	Arterial stenosis	5592	PRKG1	ORPHA:91387
HP:0100545	Arterial stenosis	2301	FOXE3	ORPHA:91387
HP:0100545	Arterial stenosis	4144	MAT2A	ORPHA:91387
HP:0100545	Arterial stenosis	23493	HEY2	ORPHA:91387
HP:0100545	Arterial stenosis	8076	MFAP5	ORPHA:91387
HP:0100545	Arterial stenosis	4638	MYLK	ORPHA:91387
HP:0100545	Arterial stenosis	348	APOE	ORPHA:412
HP:0100545	Arterial stenosis	3990	LIPC	ORPHA:140905
HP:0100545	Arterial stenosis	335	APOA1	OMIM:618463
HP:0100545	Arterial stenosis	335	APOA1	ORPHA:425
HP:0100545	Arterial stenosis	1593	CYP27A1	ORPHA:909
HP:0100545	Arterial stenosis	1161	ERCC8	ORPHA:90324
HP:0100545	Arterial stenosis	2074	ERCC6	ORPHA:90324
HP:0100545	Arterial stenosis	84984	CEP19	OMIM:615703
HP:0100545	Arterial stenosis	338328	GPIHBP1	OMIM:615947
HP:0100545	Arterial stenosis	4205	MEF2A	OMIM:608320
HP:0100545	Arterial stenosis	4040	LRP6	OMIM:610947
HP:0100545	Arterial stenosis	2161	F12	ORPHA:330
HP:0100545	Arterial stenosis	7439	BEST1	OMIM:193220
HP:0100545	Arterial stenosis	4854	NOTCH3	ORPHA:136
HP:0100545	Arterial stenosis	538	ATP7A	ORPHA:565
HP:0100545	Arterial stenosis	1281	COL3A1	ORPHA:286
HP:0100545	Arterial stenosis	5167	ENPP1	OMIM:208000
HP:0100545	Arterial stenosis	5167	ENPP1	ORPHA:758
HP:0100545	Arterial stenosis	5116	PCNT	ORPHA:2637
HP:0100545	Arterial stenosis	55249	YY1AP1	ORPHA:79094
HP:0100545	Arterial stenosis	6804	STX1A	ORPHA:904
HP:0100545	Arterial stenosis	7461	CLIP2	ORPHA:904
HP:0100545	Arterial stenosis	84277	DNAJC30	ORPHA:904
HP:0100545	Arterial stenosis	8468	FKBP6	ORPHA:904
HP:0100545	Arterial stenosis	5982	RFC2	ORPHA:904
HP:0100545	Arterial stenosis	2969	GTF2I	ORPHA:904
HP:0100545	Arterial stenosis	3984	LIMK1	ORPHA:904
HP:0100545	Arterial stenosis	9569	GTF2IRD1	ORPHA:904
HP:0100545	Arterial stenosis	155382	VPS37D	ORPHA:904
HP:0100545	Arterial stenosis	155368	METTL27	ORPHA:904
HP:0100545	Arterial stenosis	114049	BUD23	ORPHA:904
HP:0100545	Arterial stenosis	7458	EIF4H	ORPHA:904
HP:0100545	Arterial stenosis	84163	GTF2IRD2	ORPHA:904
HP:0100545	Arterial stenosis	9275	BCL7B	ORPHA:904
HP:0100545	Arterial stenosis	26608	TBL2	ORPHA:904
HP:0100545	Arterial stenosis	653361	NCF1	ORPHA:904
HP:0100545	Arterial stenosis	135886	TMEM270	ORPHA:904
HP:0100545	Arterial stenosis	51085	MLXIPL	ORPHA:904
HP:0100545	Arterial stenosis	9031	BAZ1B	ORPHA:904
HP:0100545	Arterial stenosis	2006	ELN	ORPHA:904
HP:0100545	Arterial stenosis	368	ABCC6	ORPHA:758
HP:0100545	Arterial stenosis	3593	IL12B	ORPHA:3287
HP:0100545	Arterial stenosis	3106	HLA-B	ORPHA:3287
HP:0100545	Arterial stenosis	6945	MLX	ORPHA:3287
HP:0100545	Arterial stenosis	81031	SLC2A10	ORPHA:3342
HP:0100545	Arterial stenosis	51816	ADA2	ORPHA:820
HP:0100545	Arterial stenosis	2767	GNA11	ORPHA:1556
HP:0100545	Arterial stenosis	151188	ARL6IP6	ORPHA:1556
HP:0100545	Arterial stenosis	5654	HTRA1	OMIM:600142
HP:0100545	Arterial stenosis	4629	MYH11	OMIM:132900
HP:0100545	Arterial stenosis	165	AEBP1	ORPHA:536532
HP:0100545	Arterial stenosis	165	AEBP1	OMIM:618000
HP:0100545	Arterial stenosis	19	ABCA1	ORPHA:31150
HP:0100545	Arterial stenosis	64241	ABCG8	OMIM:210250
HP:0100546	Carotid artery stenosis	55249	YY1AP1	OMIM:602531
HP:0100546	Carotid artery stenosis	5654	HTRA1	OMIM:600142
HP:0100546	Carotid artery stenosis	4629	MYH11	OMIM:132900
HP:0100546	Carotid artery stenosis	165	AEBP1	ORPHA:536532
HP:0100546	Carotid artery stenosis	165	AEBP1	OMIM:618000
HP:0100546	Carotid artery stenosis	19	ABCA1	ORPHA:31150
HP:0100546	Carotid artery stenosis	64241	ABCG8	OMIM:210250
HP:0100547	Abnormal forebrain morphology	51399	TRAPPC4	OMIM:618741
HP:0100547	Abnormal forebrain morphology	1139	CHRNA7	ORPHA:199318
HP:0100547	Abnormal forebrain morphology	51569	UFM1	OMIM:617899
HP:0100547	Abnormal forebrain morphology	6228	RPS23	OMIM:617412
HP:0100547	Abnormal forebrain morphology	5932	RBBP8	OMIM:606744
HP:0100547	Abnormal forebrain morphology	5932	RBBP8	ORPHA:808
HP:0100547	Abnormal forebrain morphology	283489	CHAMP1	OMIM:616579
HP:0100547	Abnormal forebrain morphology	10111	RAD50	OMIM:613078
HP:0100547	Abnormal forebrain morphology	5813	PURA	ORPHA:438216
HP:0100547	Abnormal forebrain morphology	89910	UBE3B	ORPHA:2707
HP:0100547	Abnormal forebrain morphology	89910	UBE3B	OMIM:244450
HP:0100547	Abnormal forebrain morphology	5373	PMM2	OMIM:212065
HP:0100547	Abnormal forebrain morphology	55131	RBM28	ORPHA:157954
HP:0100547	Abnormal forebrain morphology	55131	RBM28	OMIM:612079
HP:0100547	Abnormal forebrain morphology	55768	NGLY1	OMIM:615273
HP:0100547	Abnormal forebrain morphology	6905	TBCE	OMIM:241410
HP:0100547	Abnormal forebrain morphology	6905	TBCE	ORPHA:2323
HP:0100547	Abnormal forebrain morphology	6905	TBCE	ORPHA:93324
HP:0100547	Abnormal forebrain morphology	6305	SBF1	OMIM:615284
HP:0100547	Abnormal forebrain morphology	7358	UGDH	OMIM:618792
HP:0100547	Abnormal forebrain morphology	2904	GRIN2B	OMIM:616139
HP:0100547	Abnormal forebrain morphology	2904	GRIN2B	OMIM:613970
HP:0100547	Abnormal forebrain morphology	79971	WLS	OMIM:619648
HP:0100547	Abnormal forebrain morphology	79728	PALB2	OMIM:610832
HP:0100547	Abnormal forebrain morphology	79728	PALB2	ORPHA:84
HP:0100547	Abnormal forebrain morphology	56975	FAM20C	ORPHA:1832
HP:0100547	Abnormal forebrain morphology	56975	FAM20C	OMIM:259775
HP:0100547	Abnormal forebrain morphology	54916	TMEM260	OMIM:617478
HP:0100547	Abnormal forebrain morphology	120	ADD3	OMIM:617008
HP:0100547	Abnormal forebrain morphology	5426	POLE	OMIM:618336
HP:0100547	Abnormal forebrain morphology	3480	IGF1R	ORPHA:73273
HP:0100547	Abnormal forebrain morphology	3480	IGF1R	OMIM:270450
HP:0100547	Abnormal forebrain morphology	3479	IGF1	ORPHA:73272
HP:0100547	Abnormal forebrain morphology	3479	IGF1	OMIM:608747
HP:0100547	Abnormal forebrain morphology	10785	WDR4	OMIM:618346
HP:0100547	Abnormal forebrain morphology	10785	WDR4	OMIM:618347
HP:0100547	Abnormal forebrain morphology	10785	WDR4	ORPHA:2065
HP:0100547	Abnormal forebrain morphology	54517	PUS7	OMIM:618342
HP:0100547	Abnormal forebrain morphology	57122	NUP107	OMIM:618348
HP:0100547	Abnormal forebrain morphology	57122	NUP107	ORPHA:243
HP:0100547	Abnormal forebrain morphology	57122	NUP107	ORPHA:2065
HP:0100547	Abnormal forebrain morphology	27125	AFF4	ORPHA:444077
HP:0100547	Abnormal forebrain morphology	27125	AFF4	OMIM:616368
HP:0100547	Abnormal forebrain morphology	5575	PRKAR1B	OMIM:619680
HP:0100547	Abnormal forebrain morphology	5515	PPP2CA	OMIM:618354
HP:0100547	Abnormal forebrain morphology	23114	NFASC	OMIM:618356
HP:0100547	Abnormal forebrain morphology	10588	MTHFS	OMIM:618367
HP:0100547	Abnormal forebrain morphology	2334	AFF2	OMIM:309548
HP:0100547	Abnormal forebrain morphology	3054	HCFC1	OMIM:309541
HP:0100547	Abnormal forebrain morphology	201163	FLCN	OMIM:610883
HP:0100547	Abnormal forebrain morphology	2019	EN1	OMIM:619218
HP:0100547	Abnormal forebrain morphology	3431	SP110	OMIM:235550
HP:0100547	Abnormal forebrain morphology	3431	SP110	ORPHA:79124
HP:0100547	Abnormal forebrain morphology	23111	SPART	ORPHA:101000
HP:0100547	Abnormal forebrain morphology	11342	RNF13	OMIM:618379
HP:0100547	Abnormal forebrain morphology	11342	RNF13	ORPHA:544503
HP:0100547	Abnormal forebrain morphology	4613	MYCN	OMIM:164280
HP:0100547	Abnormal forebrain morphology	4613	MYCN	ORPHA:391641
HP:0100547	Abnormal forebrain morphology	51729	WBP11	OMIM:619227
HP:0100547	Abnormal forebrain morphology	6304	SATB1	OMIM:619228
HP:0100547	Abnormal forebrain morphology	6304	SATB1	OMIM:619229
HP:0100547	Abnormal forebrain morphology	2707	GJB3	ORPHA:317
HP:0100547	Abnormal forebrain morphology	2531	KDSR	ORPHA:317
HP:0100547	Abnormal forebrain morphology	127534	GJB4	ORPHA:317
HP:0100547	Abnormal forebrain morphology	8943	AP3D1	OMIM:617050
HP:0100547	Abnormal forebrain morphology	84265	POLR3GL	OMIM:619234
HP:0100547	Abnormal forebrain morphology	134218	DNAJC21	OMIM:617052
HP:0100547	Abnormal forebrain morphology	27107	ZBTB11	OMIM:618383
HP:0100547	Abnormal forebrain morphology	8452	CUL3	OMIM:619239
HP:0100547	Abnormal forebrain morphology	7204	TRIO	OMIM:617061
HP:0100547	Abnormal forebrain morphology	23112	TNRC6B	OMIM:619243
HP:0100547	Abnormal forebrain morphology	55717	WDR11	OMIM:620237
HP:0100547	Abnormal forebrain morphology	93587	TRMT10A	ORPHA:391408
HP:0100547	Abnormal forebrain morphology	93587	TRMT10A	OMIM:616033
HP:0100547	Abnormal forebrain morphology	84919	PPP1R15B	ORPHA:391408
HP:0100547	Abnormal forebrain morphology	84919	PPP1R15B	OMIM:616817
HP:0100547	Abnormal forebrain morphology	201595	STT3B	ORPHA:370924
HP:0100547	Abnormal forebrain morphology	201595	STT3B	OMIM:615597
HP:0100547	Abnormal forebrain morphology	10436	EMG1	OMIM:211180
HP:0100547	Abnormal forebrain morphology	10436	EMG1	ORPHA:1270
HP:0100547	Abnormal forebrain morphology	10084	PQBP1	OMIM:309500
HP:0100547	Abnormal forebrain morphology	10084	PQBP1	ORPHA:93950
HP:0100547	Abnormal forebrain morphology	10084	PQBP1	ORPHA:93946
HP:0100547	Abnormal forebrain morphology	10084	PQBP1	ORPHA:93947
HP:0100547	Abnormal forebrain morphology	8242	KDM5C	ORPHA:85279
HP:0100547	Abnormal forebrain morphology	8242	KDM5C	OMIM:300534
HP:0100547	Abnormal forebrain morphology	1315	COPB1	OMIM:619255
HP:0100547	Abnormal forebrain morphology	89970	RSPRY1	ORPHA:457395
HP:0100547	Abnormal forebrain morphology	89970	RSPRY1	OMIM:616723
HP:0100547	Abnormal forebrain morphology	54187	NANS	OMIM:610442
HP:0100547	Abnormal forebrain morphology	84464	SLX4	OMIM:613951
HP:0100547	Abnormal forebrain morphology	84464	SLX4	ORPHA:84
HP:0100547	Abnormal forebrain morphology	1968	EIF2S3	ORPHA:85282
HP:0100547	Abnormal forebrain morphology	1968	EIF2S3	OMIM:300148
HP:0100547	Abnormal forebrain morphology	81615	TMEM163	OMIM:620243
HP:0100547	Abnormal forebrain morphology	64131	XYLT1	ORPHA:370930
HP:0100547	Abnormal forebrain morphology	64131	XYLT1	OMIM:615777
HP:0100547	Abnormal forebrain morphology	25886	POC1A	OMIM:614813
HP:0100547	Abnormal forebrain morphology	5138	PDE2A	OMIM:619150
HP:0100547	Abnormal forebrain morphology	128	ADH5	OMIM:619151
HP:0100547	Abnormal forebrain morphology	64374	SIL1	OMIM:248800
HP:0100547	Abnormal forebrain morphology	64374	SIL1	ORPHA:559
HP:0100547	Abnormal forebrain morphology	6535	SLC6A8	OMIM:300352
HP:0100547	Abnormal forebrain morphology	6535	SLC6A8	ORPHA:52503
HP:0100547	Abnormal forebrain morphology	26960	NBEA	OMIM:619157
HP:0100547	Abnormal forebrain morphology	6309	SC5D	ORPHA:46059
HP:0100547	Abnormal forebrain morphology	6309	SC5D	OMIM:607330
HP:0100547	Abnormal forebrain morphology	10093	ARPC4	OMIM:620141
HP:0100547	Abnormal forebrain morphology	613	BCR	ORPHA:261330
HP:0100547	Abnormal forebrain morphology	1399	CRKL	ORPHA:261330
HP:0100547	Abnormal forebrain morphology	9640	ZNF592	ORPHA:83472
HP:0100547	Abnormal forebrain morphology	84942	WDR73	ORPHA:83472
HP:0100547	Abnormal forebrain morphology	84942	WDR73	ORPHA:2065
HP:0100547	Abnormal forebrain morphology	84942	WDR73	OMIM:251300
HP:0100547	Abnormal forebrain morphology	224	ALDH3A2	ORPHA:816
HP:0100547	Abnormal forebrain morphology	150468	CKAP2L	ORPHA:3255
HP:0100547	Abnormal forebrain morphology	150468	CKAP2L	OMIM:272440
HP:0100547	Abnormal forebrain morphology	3242	HPD	OMIM:140350
HP:0100547	Abnormal forebrain morphology	338657	CENATAC	OMIM:620153
HP:0100547	Abnormal forebrain morphology	25778	DSTYK	OMIM:270750
HP:0100547	Abnormal forebrain morphology	25839	COG4	ORPHA:263501
HP:0100547	Abnormal forebrain morphology	25839	COG4	OMIM:613489
HP:0100547	Abnormal forebrain morphology	25839	COG4	ORPHA:85172
HP:0100547	Abnormal forebrain morphology	1738	DLD	ORPHA:2394
HP:0100547	Abnormal forebrain morphology	1738	DLD	OMIM:246900
HP:0100547	Abnormal forebrain morphology	92579	G6PC3	OMIM:612541
HP:0100547	Abnormal forebrain morphology	672	BRCA1	ORPHA:84
HP:0100547	Abnormal forebrain morphology	672	BRCA1	OMIM:617883
HP:0100547	Abnormal forebrain morphology	10459	MAD2L2	ORPHA:84
HP:0100547	Abnormal forebrain morphology	10459	MAD2L2	OMIM:617243
HP:0100547	Abnormal forebrain morphology	7516	XRCC2	ORPHA:84
HP:0100547	Abnormal forebrain morphology	7516	XRCC2	OMIM:617247
HP:0100547	Abnormal forebrain morphology	29089	UBE2T	ORPHA:84
HP:0100547	Abnormal forebrain morphology	675	BRCA2	ORPHA:84
HP:0100547	Abnormal forebrain morphology	675	BRCA2	OMIM:605724
HP:0100547	Abnormal forebrain morphology	55120	FANCL	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2175	FANCA	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2175	FANCA	OMIM:227650
HP:0100547	Abnormal forebrain morphology	2176	FANCC	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2176	FANCC	OMIM:227645
HP:0100547	Abnormal forebrain morphology	2178	FANCE	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2178	FANCE	OMIM:600901
HP:0100547	Abnormal forebrain morphology	2188	FANCF	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2188	FANCF	OMIM:603467
HP:0100547	Abnormal forebrain morphology	2189	FANCG	ORPHA:84
HP:0100547	Abnormal forebrain morphology	2189	FANCG	OMIM:614082
HP:0100547	Abnormal forebrain morphology	5889	RAD51C	ORPHA:84
HP:0100547	Abnormal forebrain morphology	55159	RFWD3	ORPHA:84
HP:0100547	Abnormal forebrain morphology	55159	RFWD3	OMIM:617784
HP:0100547	Abnormal forebrain morphology	83990	BRIP1	ORPHA:84
HP:0100547	Abnormal forebrain morphology	57697	FANCM	ORPHA:84
HP:0100547	Abnormal forebrain morphology	222663	SCUBE3	OMIM:619184
HP:0100547	Abnormal forebrain morphology	23036	ZNF292	OMIM:619188
HP:0100547	Abnormal forebrain morphology	63894	VIPAS39	OMIM:613404
HP:0100547	Abnormal forebrain morphology	83879	CDCA7	OMIM:616910
HP:0100547	Abnormal forebrain morphology	84947	SERAC1	OMIM:614739
HP:0100547	Abnormal forebrain morphology	54084	TSPEAR	OMIM:620173
HP:0100547	Abnormal forebrain morphology	5447	POR	OMIM:201750
HP:0100547	Abnormal forebrain morphology	56006	SMG9	OMIM:616920
HP:0100547	Abnormal forebrain morphology	91754	NEK9	ORPHA:64754
HP:0100547	Abnormal forebrain morphology	84720	PIGO	OMIM:614749
HP:0100547	Abnormal forebrain morphology	23345	SYNE1	ORPHA:319332
HP:0100547	Abnormal forebrain morphology	3675	ITGA3	OMIM:614748
HP:0100547	Abnormal forebrain morphology	23137	SMC5	OMIM:620185
HP:0100547	Abnormal forebrain morphology	79759	ZNF668	OMIM:620194
HP:0100547	Abnormal forebrain morphology	388015	RTL1	ORPHA:96334
HP:0100547	Abnormal forebrain morphology	8788	DLK1	ORPHA:96334
HP:0100547	Abnormal forebrain morphology	55384	MEG3	ORPHA:96334
HP:0100547	Abnormal forebrain morphology	415	ARSL	OMIM:302950
HP:0100547	Abnormal forebrain morphology	81887	LAS1L	OMIM:309585
HP:0100547	Abnormal forebrain morphology	5116	PCNT	ORPHA:808
HP:0100547	Abnormal forebrain morphology	5116	PCNT	OMIM:210720
HP:0100547	Abnormal forebrain morphology	5116	PCNT	ORPHA:2637
HP:0100547	Abnormal forebrain morphology	79902	NUP85	ORPHA:808
HP:0100547	Abnormal forebrain morphology	84126	ATRIP	ORPHA:808
HP:0100547	Abnormal forebrain morphology	51567	TDP2	OMIM:616949
HP:0100547	Abnormal forebrain morphology	6567	SLC16A2	ORPHA:59
HP:0100547	Abnormal forebrain morphology	6567	SLC16A2	OMIM:300523
HP:0100547	Abnormal forebrain morphology	22907	DHX30	OMIM:617804
HP:0100547	Abnormal forebrain morphology	9894	TELO2	OMIM:616954
HP:0100547	Abnormal forebrain morphology	10075	HUWE1	OMIM:309590
HP:0100547	Abnormal forebrain morphology	29123	ANKRD11	ORPHA:2332
HP:0100547	Abnormal forebrain morphology	29123	ANKRD11	OMIM:148050
HP:0100547	Abnormal forebrain morphology	9837	GINS1	OMIM:617827
HP:0100547	Abnormal forebrain morphology	79840	NHEJ1	ORPHA:169079
HP:0100547	Abnormal forebrain morphology	55906	ZC4H2	OMIM:314580
HP:0100547	Abnormal forebrain morphology	55906	ZC4H2	OMIM:301041
HP:0100547	Abnormal forebrain morphology	134701	RIPPLY2	ORPHA:2311
HP:0100547	Abnormal forebrain morphology	10683	DLL3	ORPHA:2311
HP:0100547	Abnormal forebrain morphology	3955	LFNG	ORPHA:2311
HP:0100547	Abnormal forebrain morphology	84667	HES7	ORPHA:2311
HP:0100547	Abnormal forebrain morphology	145873	MESP2	ORPHA:2311
HP:0100547	Abnormal forebrain morphology	157570	ESCO2	ORPHA:2319
HP:0100547	Abnormal forebrain morphology	157570	ESCO2	OMIM:268300
HP:0100547	Abnormal forebrain morphology	157570	ESCO2	OMIM:216100
HP:0100547	Abnormal forebrain morphology	157570	ESCO2	ORPHA:3103
HP:0100547	Abnormal forebrain morphology	197131	UBR1	ORPHA:2315
HP:0100547	Abnormal forebrain morphology	197131	UBR1	OMIM:243800
HP:0100547	Abnormal forebrain morphology	5723	PSPH	ORPHA:79350
HP:0100547	Abnormal forebrain morphology	5723	PSPH	OMIM:614023
HP:0100547	Abnormal forebrain morphology	55180	LINS1	OMIM:614340
HP:0100547	Abnormal forebrain morphology	80152	CENPT	OMIM:618702
HP:0100547	Abnormal forebrain morphology	6697	SPR	ORPHA:70594
HP:0100547	Abnormal forebrain morphology	6697	SPR	OMIM:612716
HP:0100547	Abnormal forebrain morphology	953	ENTPD1	OMIM:615683
HP:0100547	Abnormal forebrain morphology	953	ENTPD1	ORPHA:401810
HP:0100547	Abnormal forebrain morphology	84628	NTNG2	OMIM:618718
HP:0100547	Abnormal forebrain morphology	54802	TRIT1	OMIM:617873
HP:0100547	Abnormal forebrain morphology	84700	MYO18B	OMIM:616549
HP:0100547	Abnormal forebrain morphology	1788	DNMT3A	OMIM:618724
HP:0100547	Abnormal forebrain morphology	8086	AAAS	OMIM:231550
HP:0100547	Abnormal forebrain morphology	8086	AAAS	ORPHA:869
HP:0100547	Abnormal forebrain morphology	2182	ACSL4	OMIM:300387
HP:0100547	Abnormal forebrain morphology	51763	INPP5K	OMIM:617404
HP:0100547	Abnormal forebrain morphology	51763	INPP5K	ORPHA:559
HP:0100547	Abnormal forebrain morphology	246329	STAC3	OMIM:255995
HP:0100547	Abnormal forebrain morphology	8367	H4C5	OMIM:619950
HP:0100547	Abnormal forebrain morphology	6873	TAF2	OMIM:615599
HP:0100547	Abnormal forebrain morphology	4047	LSS	ORPHA:2850
HP:0100547	Abnormal forebrain morphology	4047	LSS	OMIM:618840
HP:0100547	Abnormal forebrain morphology	197	AHSG	ORPHA:2850
HP:0100547	Abnormal forebrain morphology	3694	ITGB6	ORPHA:2850
HP:0100547	Abnormal forebrain morphology	6536	SLC6A9	OMIM:617301
HP:0100547	Abnormal forebrain morphology	65082	VPS33A	OMIM:617303
HP:0100547	Abnormal forebrain morphology	28960	DCPS	OMIM:616459
HP:0100547	Abnormal forebrain morphology	10559	SLC35A1	OMIM:603585
HP:0100547	Abnormal forebrain morphology	80153	EDC3	OMIM:616460
HP:0100547	Abnormal forebrain morphology	55870	ASH1L	OMIM:617796
HP:0100547	Abnormal forebrain morphology	25885	POLR1A	OMIM:616462
HP:0100547	Abnormal forebrain morphology	816	CAMK2B	OMIM:617799
HP:0100547	Abnormal forebrain morphology	23184	MESD	OMIM:618644
HP:0100547	Abnormal forebrain morphology	55109	AGGF1	ORPHA:90308
HP:0100547	Abnormal forebrain morphology	2626	GATA4	ORPHA:251071
HP:0100547	Abnormal forebrain morphology	1656	DDX6	OMIM:618653
HP:0100547	Abnormal forebrain morphology	1501	CTNND2	ORPHA:281
HP:0100547	Abnormal forebrain morphology	9037	SEMA5A	ORPHA:281
HP:0100547	Abnormal forebrain morphology	26057	ANKRD17	OMIM:619504
HP:0100547	Abnormal forebrain morphology	57167	SALL4	ORPHA:233
HP:0100547	Abnormal forebrain morphology	9935	MAFB	ORPHA:233
HP:0100547	Abnormal forebrain morphology	1123	CHN1	ORPHA:233
HP:0100547	Abnormal forebrain morphology	253738	EBF3	OMIM:617330
HP:0100547	Abnormal forebrain morphology	286	ANK1	ORPHA:251066
HP:0100547	Abnormal forebrain morphology	5860	QDPR	ORPHA:226
HP:0100547	Abnormal forebrain morphology	5860	QDPR	OMIM:261630
HP:0100547	Abnormal forebrain morphology	7385	UQCRC2	OMIM:615160
HP:0100547	Abnormal forebrain morphology	7750	ZMYM2	OMIM:619522
HP:0100547	Abnormal forebrain morphology	9922	IQSEC1	OMIM:618687
HP:0100547	Abnormal forebrain morphology	10516	FBLN5	ORPHA:90348
HP:0100547	Abnormal forebrain morphology	10516	FBLN5	ORPHA:90349
HP:0100547	Abnormal forebrain morphology	10516	FBLN5	OMIM:219100
HP:0100547	Abnormal forebrain morphology	4052	LTBP1	ORPHA:90349
HP:0100547	Abnormal forebrain morphology	30008	EFEMP2	ORPHA:90349
HP:0100547	Abnormal forebrain morphology	30008	EFEMP2	OMIM:614437
HP:0100547	Abnormal forebrain morphology	1173	AP2M1	ORPHA:1942
HP:0100547	Abnormal forebrain morphology	1106	CHD2	ORPHA:1942
HP:0100547	Abnormal forebrain morphology	6529	SLC6A1	ORPHA:1942
HP:0100547	Abnormal forebrain morphology	29893	PSMC3IP	ORPHA:243
HP:0100547	Abnormal forebrain morphology	171568	POLR3H	ORPHA:243
HP:0100547	Abnormal forebrain morphology	2516	NR5A1	ORPHA:243
HP:0100547	Abnormal forebrain morphology	125150	ZSWIM7	ORPHA:243
HP:0100547	Abnormal forebrain morphology	9210	BMP15	ORPHA:243
HP:0100547	Abnormal forebrain morphology	23514	SPIDR	ORPHA:243
HP:0100547	Abnormal forebrain morphology	2492	FSHR	ORPHA:243
HP:0100547	Abnormal forebrain morphology	646	BNC1	ORPHA:243
HP:0100547	Abnormal forebrain morphology	5587	PRKD1	OMIM:617364
HP:0100547	Abnormal forebrain morphology	54808	DYM	ORPHA:239
HP:0100547	Abnormal forebrain morphology	54808	DYM	OMIM:223800
HP:0100547	Abnormal forebrain morphology	54808	DYM	OMIM:607326
HP:0100547	Abnormal forebrain morphology	10466	COG5	ORPHA:263487
HP:0100547	Abnormal forebrain morphology	10466	COG5	OMIM:613612
HP:0100547	Abnormal forebrain morphology	30000	TNPO2	OMIM:619556
HP:0100547	Abnormal forebrain morphology	498	ATP5F1A	OMIM:616045
HP:0100547	Abnormal forebrain morphology	23314	SATB2	ORPHA:251028
HP:0100547	Abnormal forebrain morphology	23314	SATB2	ORPHA:251019
HP:0100547	Abnormal forebrain morphology	23314	SATB2	OMIM:612313
HP:0100547	Abnormal forebrain morphology	2627	GATA6	OMIM:600001
HP:0100547	Abnormal forebrain morphology	4695	NDUFA2	OMIM:618235
HP:0100547	Abnormal forebrain morphology	79868	ALG13	OMIM:300884
HP:0100547	Abnormal forebrain morphology	340665	CYP26C1	ORPHA:398189
HP:0100547	Abnormal forebrain morphology	92344	GORAB	OMIM:231070
HP:0100547	Abnormal forebrain morphology	6898	TAT	ORPHA:28378
HP:0100547	Abnormal forebrain morphology	80324	PUS1	OMIM:600462
HP:0100547	Abnormal forebrain morphology	80324	PUS1	ORPHA:2598
HP:0100547	Abnormal forebrain morphology	9496	TBX4	ORPHA:261279
HP:0100547	Abnormal forebrain morphology	9451	EIF2AK3	OMIM:226980
HP:0100547	Abnormal forebrain morphology	9451	EIF2AK3	ORPHA:1667
HP:0100547	Abnormal forebrain morphology	5000	ORC4	OMIM:613800
HP:0100547	Abnormal forebrain morphology	5000	ORC4	ORPHA:2554
HP:0100547	Abnormal forebrain morphology	81620	CDT1	OMIM:613804
HP:0100547	Abnormal forebrain morphology	81620	CDT1	ORPHA:2554
HP:0100547	Abnormal forebrain morphology	23594	ORC6	OMIM:613803
HP:0100547	Abnormal forebrain morphology	23594	ORC6	ORPHA:2554
HP:0100547	Abnormal forebrain morphology	990	CDC6	OMIM:613805
HP:0100547	Abnormal forebrain morphology	990	CDC6	ORPHA:2554
HP:0100547	Abnormal forebrain morphology	10847	SRCAP	OMIM:619595
HP:0100547	Abnormal forebrain morphology	55526	DHTKD1	OMIM:204750
HP:0100547	Abnormal forebrain morphology	90522	YIF1B	OMIM:619125
HP:0100547	Abnormal forebrain morphology	6472	SHMT2	OMIM:619121
HP:0100547	Abnormal forebrain morphology	90416	CCDC32	OMIM:619123
HP:0100547	Abnormal forebrain morphology	9895	TECPR2	ORPHA:320385
HP:0100547	Abnormal forebrain morphology	9895	TECPR2	OMIM:615031
HP:0100547	Abnormal forebrain morphology	3739	KCNA4	OMIM:618284
HP:0100547	Abnormal forebrain morphology	4683	NBN	ORPHA:647
HP:0100547	Abnormal forebrain morphology	4683	NBN	OMIM:251260
HP:0100547	Abnormal forebrain morphology	8665	EIF3F	OMIM:618295
HP:0100547	Abnormal forebrain morphology	3763	KCNJ6	ORPHA:435628
HP:0100547	Abnormal forebrain morphology	3763	KCNJ6	OMIM:614098
HP:0100547	Abnormal forebrain morphology	341640	FREM2	ORPHA:2052
HP:0100547	Abnormal forebrain morphology	23426	GRIP1	ORPHA:2052
HP:0100547	Abnormal forebrain morphology	8506	CNTNAP1	OMIM:618186
HP:0100547	Abnormal forebrain morphology	55325	UFSP2	OMIM:620028
HP:0100547	Abnormal forebrain morphology	10274	STAG1	ORPHA:502434
HP:0100547	Abnormal forebrain morphology	10274	STAG1	OMIM:617635
HP:0100547	Abnormal forebrain morphology	5111	PCNA	OMIM:615919
HP:0100547	Abnormal forebrain morphology	5111	PCNA	ORPHA:438134
HP:0100547	Abnormal forebrain morphology	57176	VARS2	OMIM:615917
HP:0100547	Abnormal forebrain morphology	183	AGT	OMIM:267430
HP:0100547	Abnormal forebrain morphology	5972	REN	OMIM:267430
HP:0100547	Abnormal forebrain morphology	185	AGTR1	OMIM:267430
HP:0100547	Abnormal forebrain morphology	1636	ACE	OMIM:267430
HP:0100547	Abnormal forebrain morphology	5689	PSMB1	OMIM:620038
HP:0100547	Abnormal forebrain morphology	7298	TYMS	OMIM:620040
HP:0100547	Abnormal forebrain morphology	1351	COX8A	OMIM:619059
HP:0100547	Abnormal forebrain morphology	100131801	PET100	OMIM:619055
HP:0100547	Abnormal forebrain morphology	4212	MEIS2	OMIM:600987
HP:0100547	Abnormal forebrain morphology	4212	MEIS2	ORPHA:261190
HP:0100547	Abnormal forebrain morphology	26053	AUTS2	ORPHA:352490
HP:0100547	Abnormal forebrain morphology	26053	AUTS2	OMIM:615834
HP:0100547	Abnormal forebrain morphology	10382	TUBB4A	OMIM:612438
HP:0100547	Abnormal forebrain morphology	1802	DPH2	OMIM:620062
HP:0100547	Abnormal forebrain morphology	149371	EXOC8	OMIM:619076
HP:0100547	Abnormal forebrain morphology	285175	UNC80	OMIM:616801
HP:0100547	Abnormal forebrain morphology	285175	UNC80	ORPHA:371364
HP:0100547	Abnormal forebrain morphology	92667	MGME1	ORPHA:352447
HP:0100547	Abnormal forebrain morphology	92667	MGME1	OMIM:615084
HP:0100547	Abnormal forebrain morphology	55027	HEATR3	OMIM:620072
HP:0100547	Abnormal forebrain morphology	5700	PSMC1	OMIM:620071
HP:0100547	Abnormal forebrain morphology	58508	KMT2C	ORPHA:261652
HP:0100547	Abnormal forebrain morphology	58508	KMT2C	OMIM:617768
HP:0100547	Abnormal forebrain morphology	25828	TXN2	OMIM:616811
HP:0100547	Abnormal forebrain morphology	3187	HNRNPH1	OMIM:620083
HP:0100547	Abnormal forebrain morphology	4677	NARS1	OMIM:619091
HP:0100547	Abnormal forebrain morphology	4677	NARS1	OMIM:619092
HP:0100547	Abnormal forebrain morphology	92154	MTSS2	OMIM:620086
HP:0100547	Abnormal forebrain morphology	197322	ACSF3	ORPHA:289504
HP:0100547	Abnormal forebrain morphology	2702	GJA5	OMIM:612474
HP:0100547	Abnormal forebrain morphology	2703	GJA8	OMIM:612474
HP:0100547	Abnormal forebrain morphology	10664	CTCF	OMIM:615502
HP:0100547	Abnormal forebrain morphology	10664	CTCF	ORPHA:363611
HP:0100547	Abnormal forebrain morphology	6307	MSMO1	OMIM:616834
HP:0100547	Abnormal forebrain morphology	1828	DSG1	OMIM:615508
HP:0100547	Abnormal forebrain morphology	3720	JARID2	OMIM:620098
HP:0100547	Abnormal forebrain morphology	579	NKX3-2	OMIM:613330
HP:0100547	Abnormal forebrain morphology	55784	MCTP2	ORPHA:1596
HP:0100547	Abnormal forebrain morphology	6301	SARS1	OMIM:617709
HP:0100547	Abnormal forebrain morphology	26224	FBXL3	OMIM:606220
HP:0100547	Abnormal forebrain morphology	5925	RB1	ORPHA:1587
HP:0100547	Abnormal forebrain morphology	27315	PGAP2	OMIM:614207
HP:0100547	Abnormal forebrain morphology	83987	CCDC8	OMIM:614205
HP:0100547	Abnormal forebrain morphology	80185	TTI2	OMIM:615541
HP:0100547	Abnormal forebrain morphology	80185	TTI2	ORPHA:391307
HP:0100547	Abnormal forebrain morphology	128989	TANGO2	OMIM:616878
HP:0100547	Abnormal forebrain morphology	128989	TANGO2	ORPHA:480864
HP:0100547	Abnormal forebrain morphology	23443	SLC35A3	OMIM:615553
HP:0100547	Abnormal forebrain morphology	202018	TAPT1	OMIM:616897
HP:0100547	Abnormal forebrain morphology	6591	SNAI2	ORPHA:2884
HP:0100547	Abnormal forebrain morphology	3815	KIT	ORPHA:2884
HP:0100547	Abnormal forebrain morphology	3756	KCNH1	ORPHA:420561
HP:0100547	Abnormal forebrain morphology	9320	TRIP12	OMIM:617752
HP:0100547	Abnormal forebrain morphology	1663	DDX11	OMIM:613398
HP:0100547	Abnormal forebrain morphology	2186	BPTF	OMIM:617755
HP:0100547	Abnormal forebrain morphology	738	VPS51	OMIM:618606
HP:0100547	Abnormal forebrain morphology	26235	FBXL4	OMIM:615471
HP:0100547	Abnormal forebrain morphology	6777	STAT5B	OMIM:618985
HP:0100547	Abnormal forebrain morphology	23498	HAAO	OMIM:617660
HP:0100547	Abnormal forebrain morphology	161582	DNAAF4	OMIM:615482
HP:0100547	Abnormal forebrain morphology	65993	MRPS34	OMIM:617664
HP:0100547	Abnormal forebrain morphology	80816	ASXL3	OMIM:615485
HP:0100547	Abnormal forebrain morphology	80816	ASXL3	ORPHA:352577
HP:0100547	Abnormal forebrain morphology	8942	KYNU	OMIM:617661
HP:0100547	Abnormal forebrain morphology	1841	DTYMK	OMIM:619847
HP:0100547	Abnormal forebrain morphology	3149	HMGB3	OMIM:300915
HP:0100547	Abnormal forebrain morphology	2132	EXT2	ORPHA:466926
HP:0100547	Abnormal forebrain morphology	2132	EXT2	OMIM:616682
HP:0100547	Abnormal forebrain morphology	9723	SEMA3E	ORPHA:138
HP:0100547	Abnormal forebrain morphology	288	ANK3	OMIM:615493
HP:0100547	Abnormal forebrain morphology	7994	KAT6A	ORPHA:457193
HP:0100547	Abnormal forebrain morphology	7994	KAT6A	OMIM:616268
HP:0100547	Abnormal forebrain morphology	788	SLC25A20	ORPHA:159
HP:0100547	Abnormal forebrain morphology	8558	CDK10	OMIM:617694
HP:0100547	Abnormal forebrain morphology	285362	SUMF1	ORPHA:585
HP:0100547	Abnormal forebrain morphology	4285	MIPEP	OMIM:617228
HP:0100547	Abnormal forebrain morphology	641	BLM	OMIM:210900
HP:0100547	Abnormal forebrain morphology	84295	PHF6	ORPHA:127
HP:0100547	Abnormal forebrain morphology	84295	PHF6	OMIM:301900
HP:0100547	Abnormal forebrain morphology	6135	RPL11	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6138	RPL15	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6229	RPS24	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6125	RPL5	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6204	RPS10	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6224	RPS20	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6165	RPL35A	ORPHA:124
HP:0100547	Abnormal forebrain morphology	2623	GATA1	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6223	RPS19	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6223	RPS19	OMIM:105650
HP:0100547	Abnormal forebrain morphology	6232	RPS27	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6231	RPS26	ORPHA:124
HP:0100547	Abnormal forebrain morphology	11224	RPL35	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6160	RPL31	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6218	RPS17	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6201	RPS7	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6155	RPL27	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6154	RPL26	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6210	RPS15A	ORPHA:124
HP:0100547	Abnormal forebrain morphology	90121	TSR2	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6141	RPL18	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6235	RPS29	ORPHA:124
HP:0100547	Abnormal forebrain morphology	6234	RPS28	ORPHA:124
HP:0100547	Abnormal forebrain morphology	9742	IFT140	OMIM:266920
HP:0100547	Abnormal forebrain morphology	55656	INTS8	OMIM:618572
HP:0100547	Abnormal forebrain morphology	165918	RNF168	OMIM:611943
HP:0100547	Abnormal forebrain morphology	165918	RNF168	ORPHA:420741
HP:0100547	Abnormal forebrain morphology	389827	MYMK	OMIM:254940
HP:0100547	Abnormal forebrain morphology	389827	MYMK	ORPHA:1358
HP:0100547	Abnormal forebrain morphology	51574	LARP7	OMIM:615071
HP:0100547	Abnormal forebrain morphology	286053	NSMCE2	OMIM:617253
HP:0100547	Abnormal forebrain morphology	84894	LINGO1	OMIM:618103
HP:0100547	Abnormal forebrain morphology	123606	NIPA1	ORPHA:261183
HP:0100547	Abnormal forebrain morphology	81614	NIPA2	ORPHA:261183
HP:0100547	Abnormal forebrain morphology	8473	OGT	OMIM:300997
HP:0100547	Abnormal forebrain morphology	6418	SET	OMIM:618106
HP:0100547	Abnormal forebrain morphology	9526	MPDU1	OMIM:609180
HP:0100547	Abnormal forebrain morphology	1120	CHKB	OMIM:602541
HP:0100547	Abnormal forebrain morphology	3778	KCNMA1	OMIM:618596
HP:0100547	Abnormal forebrain morphology	112939	NACC1	ORPHA:500545
HP:0100547	Abnormal forebrain morphology	5053	PAH	OMIM:261600
HP:0100547	Abnormal forebrain morphology	5053	PAH	ORPHA:79254
HP:0100547	Abnormal forebrain morphology	5053	PAH	ORPHA:2209
HP:0100547	Abnormal forebrain morphology	4041	LRP5	OMIM:259770
HP:0100547	Abnormal forebrain morphology	4041	LRP5	ORPHA:891
HP:0100547	Abnormal forebrain morphology	3039	HBA1	ORPHA:98791
HP:0100547	Abnormal forebrain morphology	3040	HBA2	ORPHA:98791
HP:0100547	Abnormal forebrain morphology	51132	RLIM	OMIM:300978
HP:0100547	Abnormal forebrain morphology	4998	ORC1	OMIM:224690
HP:0100547	Abnormal forebrain morphology	4998	ORC1	ORPHA:2554
HP:0100547	Abnormal forebrain morphology	27341	RRP7A	OMIM:619453
HP:0100547	Abnormal forebrain morphology	3376	IARS1	ORPHA:541423
HP:0100547	Abnormal forebrain morphology	5077	PAX3	OMIM:148820
HP:0100547	Abnormal forebrain morphology	5077	PAX3	ORPHA:896
HP:0100547	Abnormal forebrain morphology	538	ATP7A	ORPHA:565
HP:0100547	Abnormal forebrain morphology	538	ATP7A	OMIM:309400
HP:0100547	Abnormal forebrain morphology	92949	ADAMTSL1	ORPHA:521445
HP:0100547	Abnormal forebrain morphology	57187	THOC2	OMIM:300957
HP:0100547	Abnormal forebrain morphology	57187	THOC2	ORPHA:457240
HP:0100547	Abnormal forebrain morphology	10526	IPO8	OMIM:619472
HP:0100547	Abnormal forebrain morphology	55651	NHP2	OMIM:224230
HP:0100547	Abnormal forebrain morphology	55505	NOP10	OMIM:224230
HP:0100547	Abnormal forebrain morphology	6711	SPTBN1	OMIM:619475
HP:0100547	Abnormal forebrain morphology	3643	INSR	ORPHA:508
HP:0100547	Abnormal forebrain morphology	2131	EXT1	ORPHA:502
HP:0100547	Abnormal forebrain morphology	7227	TRPS1	ORPHA:502
HP:0100547	Abnormal forebrain morphology	60676	PAPPA2	OMIM:619489
HP:0100547	Abnormal forebrain morphology	407975	MIR17HG	ORPHA:391646
HP:0100547	Abnormal forebrain morphology	55599	RNPC3	OMIM:618160
HP:0100547	Abnormal forebrain morphology	5805	PTS	OMIM:261640
HP:0100547	Abnormal forebrain morphology	7157	TP53	OMIM:618165
HP:0100547	Abnormal forebrain morphology	5557	PRIM1	OMIM:620005
HP:0100547	Abnormal forebrain morphology	54936	ADPRS	OMIM:618170
HP:0100547	Abnormal forebrain morphology	64432	MRPS25	OMIM:619025
HP:0100547	Abnormal forebrain morphology	84842	HPDL	OMIM:619026
HP:0100547	Abnormal forebrain morphology	55294	FBXW7	OMIM:620012
HP:0100547	Abnormal forebrain morphology	123263	MTFMT	OMIM:614947
HP:0100547	Abnormal forebrain morphology	80232	WDR26	ORPHA:513456
HP:0100547	Abnormal forebrain morphology	4010	LMX1B	ORPHA:495818
HP:0100547	Abnormal forebrain morphology	6812	STXBP1	ORPHA:495818
HP:0100547	Abnormal forebrain morphology	1763	DNA2	OMIM:615807
HP:0100547	Abnormal forebrain morphology	80204	FBXO11	OMIM:618089
HP:0100547	Abnormal forebrain morphology	1509	CTSD	OMIM:610127
HP:0100547	Abnormal forebrain morphology	23325	WASHC4	OMIM:615817
HP:0100547	Abnormal forebrain morphology	57531	HACE1	ORPHA:464282
HP:0100547	Abnormal forebrain morphology	57531	HACE1	OMIM:616756
HP:0100547	Abnormal forebrain morphology	7156	TOP3A	OMIM:618097
HP:0100547	Abnormal forebrain morphology	1009	CDH11	ORPHA:1299
HP:0100547	Abnormal forebrain morphology	54496	PRMT7	ORPHA:464288
HP:0100547	Abnormal forebrain morphology	54496	PRMT7	OMIM:617157
HP:0100547	Abnormal forebrain morphology	5063	PAK3	OMIM:300558
HP:0100547	Abnormal forebrain morphology	10056	FARSB	OMIM:613658
HP:0100547	Abnormal forebrain morphology	440138	ALG11	OMIM:613661
HP:0100547	Abnormal forebrain morphology	440138	ALG11	ORPHA:280071
HP:0100547	Abnormal forebrain morphology	5422	POLA1	ORPHA:163976
HP:0100547	Abnormal forebrain morphology	5422	POLA1	OMIM:301030
HP:0100547	Abnormal forebrain morphology	51067	YARS2	ORPHA:2598
HP:0100547	Abnormal forebrain morphology	219285	SAMD9L	ORPHA:2585
HP:0100547	Abnormal forebrain morphology	5648	MASP1	OMIM:257920
HP:0100547	Abnormal forebrain morphology	26115	TANC2	OMIM:618906
HP:0100547	Abnormal forebrain morphology	54101	RIPK4	ORPHA:1234
HP:0100547	Abnormal forebrain morphology	10982	MAPRE2	OMIM:616734
HP:0100547	Abnormal forebrain morphology	10982	MAPRE2	ORPHA:2505
HP:0100547	Abnormal forebrain morphology	3176	HNMT	OMIM:616739
HP:0100547	Abnormal forebrain morphology	259232	NALCN	OMIM:615419
HP:0100547	Abnormal forebrain morphology	259232	NALCN	ORPHA:371364
HP:0100547	Abnormal forebrain morphology	3759	KCNJ2	OMIM:170390
HP:0100547	Abnormal forebrain morphology	84172	POLR1B	OMIM:618939
HP:0100547	Abnormal forebrain morphology	157680	VPS13B	ORPHA:193
HP:0100547	Abnormal forebrain morphology	157680	VPS13B	OMIM:216550
HP:0100547	Abnormal forebrain morphology	81689	ISCA1	OMIM:617613
HP:0100547	Abnormal forebrain morphology	1861	TOR1A	OMIM:618947
HP:0100547	Abnormal forebrain morphology	51520	LARS1	OMIM:615438
HP:0100547	Abnormal forebrain morphology	55617	TASP1	OMIM:618950
HP:0100547	Abnormal forebrain morphology	60528	ELAC2	OMIM:615440
HP:0100547	Abnormal forebrain morphology	28957	MRPS28	OMIM:618958
HP:0100547	Abnormal forebrain morphology	7991	TUSC3	OMIM:611093
HP:0100547	Abnormal forebrain morphology	1804	DPP6	ORPHA:2514
HP:0100547	Abnormal forebrain morphology	1804	DPP6	OMIM:616311
HP:0100547	Abnormal forebrain morphology	8192	CLPP	OMIM:614129
HP:0100547	Abnormal forebrain morphology	4621	MYH3	ORPHA:2990
HP:0100547	Abnormal forebrain morphology	4621	MYH3	OMIM:178110
HP:0100547	Abnormal forebrain morphology	4621	MYH3	OMIM:193700
HP:0100547	Abnormal forebrain morphology	1146	CHRNG	ORPHA:2990
HP:0100547	Abnormal forebrain morphology	55367	PIDD1	OMIM:619827
HP:0100547	Abnormal forebrain morphology	10749	KIF1C	ORPHA:397946
HP:0100547	Abnormal forebrain morphology	60684	TRAPPC11	OMIM:615356
HP:0100547	Abnormal forebrain morphology	60684	TRAPPC11	ORPHA:869
HP:0100547	Abnormal forebrain morphology	60684	TRAPPC11	ORPHA:369840
HP:0100547	Abnormal forebrain morphology	3021	H3-3B	OMIM:619721
HP:0100547	Abnormal forebrain morphology	4056	LTC4S	OMIM:614037
HP:0100547	Abnormal forebrain morphology	72	ACTG2	ORPHA:2604
HP:0100547	Abnormal forebrain morphology	472	ATM	OMIM:208900
HP:0100547	Abnormal forebrain morphology	3781	KCNN2	OMIM:619725
HP:0100547	Abnormal forebrain morphology	2590	GALNT2	OMIM:618885
HP:0100547	Abnormal forebrain morphology	51319	RSRC1	OMIM:618402
HP:0100547	Abnormal forebrain morphology	23761	PISD	OMIM:618889
HP:0100547	Abnormal forebrain morphology	7020	TFAP2A	OMIM:113620
HP:0100547	Abnormal forebrain morphology	25930	PTPN23	OMIM:618890
HP:0100547	Abnormal forebrain morphology	339983	NAT8L	OMIM:614063
HP:0100547	Abnormal forebrain morphology	8879	SGPL1	OMIM:617575
HP:0100547	Abnormal forebrain morphology	8021	NUP214	OMIM:618426
HP:0100547	Abnormal forebrain morphology	8364	H4C3	OMIM:619758
HP:0100547	Abnormal forebrain morphology	145258	GSC	OMIM:602471
HP:0100547	Abnormal forebrain morphology	53335	BCL11A	OMIM:617101
HP:0100547	Abnormal forebrain morphology	9993	DGCR2	OMIM:192430
HP:0100547	Abnormal forebrain morphology	8220	ESS2	OMIM:192430
HP:0100547	Abnormal forebrain morphology	8214	DGCR6	OMIM:192430
HP:0100547	Abnormal forebrain morphology	54487	DGCR8	OMIM:192430
HP:0100547	Abnormal forebrain morphology	23162	MAPK8IP3	OMIM:618443
HP:0100547	Abnormal forebrain morphology	80173	IFT74	OMIM:617119
HP:0100547	Abnormal forebrain morphology	6878	TAF6	OMIM:617126
HP:0100547	Abnormal forebrain morphology	51013	EXOSC1	OMIM:619304
HP:0100547	Abnormal forebrain morphology	84706	GPT2	OMIM:616281
HP:0100547	Abnormal forebrain morphology	84706	GPT2	ORPHA:477673
HP:0100547	Abnormal forebrain morphology	54892	NCAPG2	OMIM:618460
HP:0100547	Abnormal forebrain morphology	85476	GFM1	OMIM:609060
HP:0100547	Abnormal forebrain morphology	6650	CAPN15	OMIM:619318
HP:0100547	Abnormal forebrain morphology	256297	PTF1A	OMIM:609069
HP:0100547	Abnormal forebrain morphology	29998	BICRA	OMIM:619325
HP:0100547	Abnormal forebrain morphology	8882	ZPR1	OMIM:619321
HP:0100547	Abnormal forebrain morphology	4081	MAB21L1	OMIM:618479
HP:0100547	Abnormal forebrain morphology	8869	ST3GAL5	OMIM:609056
HP:0100547	Abnormal forebrain morphology	2530	FUT8	OMIM:618005
HP:0100547	Abnormal forebrain morphology	79641	ROGDI	OMIM:226750
HP:0100547	Abnormal forebrain morphology	7965	AIMP2	OMIM:618006
HP:0100547	Abnormal forebrain morphology	8091	HMGA2	ORPHA:94063
HP:0100547	Abnormal forebrain morphology	23592	LEMD3	ORPHA:94063
HP:0100547	Abnormal forebrain morphology	26276	VPS33B	OMIM:208085
HP:0100547	Abnormal forebrain morphology	372	ARCN1	OMIM:617164
HP:0100547	Abnormal forebrain morphology	54681	P4HTM	OMIM:618493
HP:0100547	Abnormal forebrain morphology	37	ACADVL	OMIM:201475
HP:0100547	Abnormal forebrain morphology	5281	PIGF	OMIM:619356
HP:0100547	Abnormal forebrain morphology	29926	GMPPA	ORPHA:869
HP:0100547	Abnormal forebrain morphology	10681	GNB5	OMIM:617182
HP:0100547	Abnormal forebrain morphology	627	BDNF	ORPHA:893
HP:0100547	Abnormal forebrain morphology	23554	TSPAN12	ORPHA:891
HP:0100547	Abnormal forebrain morphology	79797	ZNF408	ORPHA:891
HP:0100547	Abnormal forebrain morphology	8322	FZD4	ORPHA:891
HP:0100547	Abnormal forebrain morphology	2733	GLE1	OMIM:611890
HP:0100547	Abnormal forebrain morphology	11011	TLK2	OMIM:618050
HP:0100547	Abnormal forebrain morphology	81555	YIPF5	OMIM:619278
HP:0100547	Abnormal forebrain morphology	8443	GNPAT	OMIM:222765
HP:0100547	Abnormal forebrain morphology	3899	AFF3	OMIM:619297
HP:0100547	Abnormal forebrain morphology	36	ACADSB	OMIM:610006
HP:0100547	Abnormal forebrain morphology	8546	AP3B1	OMIM:608233
HP:0100547	Abnormal forebrain morphology	51199	NIN	OMIM:614851
HP:0100547	Abnormal forebrain morphology	51199	NIN	ORPHA:319675
HP:0100547	Abnormal forebrain morphology	197257	LDHD	OMIM:245450
HP:0100547	Abnormal forebrain morphology	27286	SRPX2	ORPHA:98889
HP:0100547	Abnormal forebrain morphology	375748	ERCC6L2	OMIM:615715
HP:0100547	Abnormal forebrain morphology	2521	FUS	ORPHA:300605
HP:0100547	Abnormal forebrain morphology	10280	SIGMAR1	ORPHA:300605
HP:0100547	Abnormal forebrain morphology	10558	SPTLC1	ORPHA:300605
HP:0100547	Abnormal forebrain morphology	162417	NAGS	ORPHA:927
HP:0100547	Abnormal forebrain morphology	50628	GEMIN4	OMIM:617913
HP:0100547	Abnormal forebrain morphology	867	CBL	OMIM:613563
HP:0100547	Abnormal forebrain morphology	4173	MCM4	OMIM:609981
HP:0100547	Abnormal forebrain morphology	55187	VPS13D	OMIM:607317
HP:0100547	Abnormal forebrain morphology	10157	AASS	ORPHA:2203
HP:0100547	Abnormal forebrain morphology	79631	EFL1	OMIM:617941
HP:0100547	Abnormal forebrain morphology	5429	POLH	OMIM:278750
HP:0100547	Abnormal forebrain morphology	101929726	MYMX	ORPHA:1358
HP:0100547	Abnormal forebrain morphology	2058	EPRS1	OMIM:617951
HP:0100547	Abnormal forebrain morphology	20	ABCA2	OMIM:618808
HP:0100547	Abnormal forebrain morphology	1729	DIAPH1	OMIM:616632
HP:0100547	Abnormal forebrain morphology	175	AGA	OMIM:208400
HP:0100547	Abnormal forebrain morphology	9419	CRIPT	OMIM:615789
HP:0100547	Abnormal forebrain morphology	27010	TPK1	OMIM:614458
HP:0100547	Abnormal forebrain morphology	2584	GALK1	ORPHA:79237
HP:0100547	Abnormal forebrain morphology	11019	LIAS	OMIM:614462
HP:0100547	Abnormal forebrain morphology	4337	MOCS1	OMIM:252150
HP:0100547	Abnormal forebrain morphology	29957	SLC25A24	OMIM:612289
HP:0100547	Abnormal forebrain morphology	3704	ITPA	OMIM:616647
HP:0100547	Abnormal forebrain morphology	54870	QRICH1	OMIM:617982
HP:0100547	Abnormal forebrain morphology	6911	TBX6	ORPHA:1797
HP:0100547	Abnormal forebrain morphology	23397	NCAPH	OMIM:617985
HP:0100547	Abnormal forebrain morphology	158326	FREM1	OMIM:614485
HP:0100547	Abnormal forebrain morphology	23133	PHF8	OMIM:300263
HP:0100547	Abnormal forebrain morphology	51733	UPB1	OMIM:613161
HP:0100547	Abnormal forebrain morphology	23001	WDFY3	OMIM:617520
HP:0100547	Abnormal forebrain morphology	35	ACADS	ORPHA:26792
HP:0100547	Abnormal forebrain morphology	91452	ACBD5	OMIM:618863
HP:0100547	Abnormal forebrain morphology	51660	MPC1	OMIM:614741
HP:0100547	Abnormal forebrain morphology	10564	ARFGEF2	OMIM:608097
HP:0100547	Abnormal forebrain morphology	8818	DPM2	ORPHA:329178
HP:0100547	Abnormal forebrain morphology	22845	DOLK	ORPHA:91131
HP:0100547	Abnormal forebrain morphology	56052	ALG1	ORPHA:79327
HP:0100547	Abnormal forebrain morphology	79796	ALG9	ORPHA:79328
HP:0100547	Abnormal forebrain morphology	4247	MGAT2	ORPHA:79329
HP:0100547	Abnormal forebrain morphology	8318	CDC45	OMIM:617063
HP:0100547	Abnormal forebrain morphology	2137	EXTL3	OMIM:617425
HP:0100547	Abnormal forebrain morphology	4190	MDH1	OMIM:618959
HP:0100547	Abnormal forebrain morphology	54862	CC2D1A	OMIM:608443
HP:0100547	Abnormal forebrain morphology	2891	GRIA2	OMIM:618917
HP:0100547	Abnormal forebrain morphology	63908	NAPB	OMIM:620033
HP:0100547	Abnormal forebrain morphology	51651	PTRH2	OMIM:616263
HP:0100547	Abnormal forebrain morphology	5538	PPT1	OMIM:256730
HP:0100547	Abnormal forebrain morphology	55275	VPS53	OMIM:615851
HP:0100547	Abnormal forebrain morphology	203190	LGI3	OMIM:620007
HP:0100547	Abnormal forebrain morphology	2806	GOT2	OMIM:618721
HP:0100547	Abnormal forebrain morphology	51294	PCDH12	OMIM:251280
HP:0100547	Abnormal forebrain morphology	114034	TOE1	OMIM:614969
HP:0100547	Abnormal forebrain morphology	3913	LAMB2	OMIM:609049
HP:0100547	Abnormal forebrain morphology	55163	PNPO	OMIM:610090
HP:0100547	Abnormal forebrain morphology	10844	TUBGCP2	OMIM:618737
HP:0100547	Abnormal forebrain morphology	84342	COG8	ORPHA:95428
HP:0100547	Abnormal forebrain morphology	27445	PCLO	OMIM:608027
HP:0100547	Abnormal forebrain morphology	9343	EFTUD2	OMIM:610536
HP:0100547	Abnormal forebrain morphology	87178	PNPT1	ORPHA:319514
HP:0100547	Abnormal forebrain morphology	9342	SNAP29	OMIM:609528
HP:0100547	Abnormal forebrain morphology	9342	SNAP29	ORPHA:66631
HP:0100547	Abnormal forebrain morphology	84340	GFM2	ORPHA:565624
HP:0100547	Abnormal forebrain morphology	51259	TMEM216	OMIM:608091
HP:0100547	Abnormal forebrain morphology	79848	CSPP1	ORPHA:397715
HP:0100547	Abnormal forebrain morphology	4297	KMT2A	ORPHA:319182
HP:0100547	Abnormal forebrain morphology	2232	FDXR	ORPHA:543470
HP:0100547	Abnormal forebrain morphology	27245	AHDC1	ORPHA:412069
HP:0100547	Abnormal forebrain morphology	55904	KMT2E	OMIM:618512
HP:0100547	Abnormal forebrain morphology	3737	KCNA2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	8120	AP3B2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	523	ATP6V1A	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	10991	SLC38A3	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	51343	FZR1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2566	GABRG2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	1917	EEF1A2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2561	GABRB2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	8831	SYNGAP1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	7532	YWHAG	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	79876	UBA5	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	6328	SCN3A	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	781	CACNA2D1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2906	GRIN2D	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	10659	CELF2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	774	CACNA1B	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	1213	CLTC	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	51741	WWOX	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	23334	SZT2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	51412	ACTL6B	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	348980	HCN1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	6506	SLC1A2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2258	FGF13	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	477	ATP1A2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	3745	KCNB1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	284111	SLC13A5	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	25977	NECAP1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	16	AARS1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	6334	SCN8A	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	9568	GABBR2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2555	GABRA2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	55152	DALRD3	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	26999	CYFIP2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	4915	NTRK2	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	23097	CDK19	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	64801	ARV1	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	79947	DHDDS	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2257	FGF12	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	5530	PPP3CA	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	478	ATP1A3	ORPHA:442835
HP:0100547	Abnormal forebrain morphology	2581	GALC	ORPHA:206448
HP:0100547	Abnormal forebrain morphology	5354	PLP1	ORPHA:280229
HP:0100547	Abnormal forebrain morphology	8241	RBM10	ORPHA:2886
HP:0100547	Abnormal forebrain morphology	3423	IDS	ORPHA:217093
HP:0100547	Abnormal forebrain morphology	3476	IGBP1	OMIM:300472
HP:0100547	Abnormal forebrain morphology	3476	IGBP1	ORPHA:52055
HP:0100547	Abnormal forebrain morphology	11113	CIT	OMIM:617090
HP:0100547	Abnormal forebrain morphology	11113	CIT	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	7528	YY1	ORPHA:506358
HP:0100547	Abnormal forebrain morphology	23141	ANKLE2	OMIM:616681
HP:0100547	Abnormal forebrain morphology	23141	ANKLE2	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	23019	CNOT1	OMIM:618500
HP:0100547	Abnormal forebrain morphology	23019	CNOT1	ORPHA:556955
HP:0100547	Abnormal forebrain morphology	1024	CDK8	OMIM:618748
HP:0100547	Abnormal forebrain morphology	4774	NFIA	OMIM:613735
HP:0100547	Abnormal forebrain morphology	10992	SF3B2	OMIM:164210
HP:0100547	Abnormal forebrain morphology	2731	GLDC	OMIM:605899
HP:0100547	Abnormal forebrain morphology	275	AMT	OMIM:605899
HP:0100547	Abnormal forebrain morphology	3190	HNRNPK	ORPHA:453504
HP:0100547	Abnormal forebrain morphology	3190	HNRNPK	ORPHA:352665
HP:0100547	Abnormal forebrain morphology	55112	DYNC2I1	ORPHA:93271
HP:0100547	Abnormal forebrain morphology	57560	IFT80	ORPHA:93271
HP:0100547	Abnormal forebrain morphology	57539	WDR35	ORPHA:93271
HP:0100547	Abnormal forebrain morphology	79659	DYNC2H1	ORPHA:93271
HP:0100547	Abnormal forebrain morphology	79659	DYNC2H1	OMIM:613091
HP:0100547	Abnormal forebrain morphology	89891	DYNC2I2	ORPHA:93271
HP:0100547	Abnormal forebrain morphology	4281	MID1	OMIM:300000
HP:0100547	Abnormal forebrain morphology	4281	MID1	ORPHA:2745
HP:0100547	Abnormal forebrain morphology	116931	MED12L	OMIM:618872
HP:0100547	Abnormal forebrain morphology	9578	CDC42BPB	OMIM:619841
HP:0100547	Abnormal forebrain morphology	1630	DCC	OMIM:617542
HP:0100547	Abnormal forebrain morphology	1630	DCC	ORPHA:238722
HP:0100547	Abnormal forebrain morphology	1630	DCC	OMIM:157600
HP:0100547	Abnormal forebrain morphology	6576	SLC25A1	OMIM:618197
HP:0100547	Abnormal forebrain morphology	23322	RPGRIP1L	ORPHA:220497
HP:0100547	Abnormal forebrain morphology	4867	NPHP1	ORPHA:220497
HP:0100547	Abnormal forebrain morphology	65062	TMEM237	ORPHA:220497
HP:0100547	Abnormal forebrain morphology	22858	CILK1	OMIM:612651
HP:0100547	Abnormal forebrain morphology	54806	AHI1	ORPHA:220493
HP:0100547	Abnormal forebrain morphology	56623	INPP5E	ORPHA:220493
HP:0100547	Abnormal forebrain morphology	153241	CEP120	ORPHA:220493
HP:0100547	Abnormal forebrain morphology	95681	CEP41	ORPHA:220493
HP:0100547	Abnormal forebrain morphology	84197	POMK	OMIM:615249
HP:0100547	Abnormal forebrain morphology	84197	POMK	ORPHA:899
HP:0100547	Abnormal forebrain morphology	84197	POMK	ORPHA:370959
HP:0100547	Abnormal forebrain morphology	26153	KIF26A	OMIM:620156
HP:0100547	Abnormal forebrain morphology	28514	DLL1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	28514	DLL1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	28514	DLL1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	28514	DLL1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	28514	DLL1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	2253	FGF8	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	2253	FGF8	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	2253	FGF8	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	2253	FGF8	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	2253	FGF8	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	7050	TGIF1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	7050	TGIF1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	7050	TGIF1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	7050	TGIF1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	7050	TGIF1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	4838	NODAL	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	4838	NODAL	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	4838	NODAL	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	4838	NODAL	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	4838	NODAL	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	51684	SUFU	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	7546	ZIC2	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	7546	ZIC2	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	7546	ZIC2	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	7546	ZIC2	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	7546	ZIC2	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	2619	GAS1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	2619	GAS1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	2619	GAS1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	2619	GAS1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	2619	GAS1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	84976	DISP1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	84976	DISP1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	84976	DISP1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	84976	DISP1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	84976	DISP1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	2736	GLI2	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	8928	FOXH1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	8928	FOXH1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	8928	FOXH1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	8928	FOXH1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	8928	FOXH1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	OMIM:610828
HP:0100547	Abnormal forebrain morphology	5727	PTCH1	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	50937	CDON	ORPHA:280200
HP:0100547	Abnormal forebrain morphology	50937	CDON	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	50937	CDON	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	50937	CDON	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	50937	CDON	OMIM:614226
HP:0100547	Abnormal forebrain morphology	50937	CDON	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	2263	FGFR2	ORPHA:87
HP:0100547	Abnormal forebrain morphology	2263	FGFR2	OMIM:123790
HP:0100547	Abnormal forebrain morphology	2263	FGFR2	OMIM:101200
HP:0100547	Abnormal forebrain morphology	56992	KIF15	ORPHA:261323
HP:0100547	Abnormal forebrain morphology	284058	KANSL1	ORPHA:363958
HP:0100547	Abnormal forebrain morphology	284058	KANSL1	ORPHA:363965
HP:0100547	Abnormal forebrain morphology	1020	CDK5	OMIM:616342
HP:0100547	Abnormal forebrain morphology	23522	KAT6B	OMIM:606170
HP:0100547	Abnormal forebrain morphology	23522	KAT6B	ORPHA:85201
HP:0100547	Abnormal forebrain morphology	5173	PDYN	OMIM:610245
HP:0100547	Abnormal forebrain morphology	55681	SCYL2	OMIM:618766
HP:0100547	Abnormal forebrain morphology	6597	SMARCA4	OMIM:614609
HP:0100547	Abnormal forebrain morphology	6597	SMARCA4	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	9401	RECQL4	OMIM:218600
HP:0100547	Abnormal forebrain morphology	4524	MTHFR	ORPHA:563612
HP:0100547	Abnormal forebrain morphology	57216	VANGL2	ORPHA:563612
HP:0100547	Abnormal forebrain morphology	171023	ASXL1	ORPHA:97297
HP:0100547	Abnormal forebrain morphology	171023	ASXL1	OMIM:605039
HP:0100547	Abnormal forebrain morphology	54872	PIGG	ORPHA:280
HP:0100547	Abnormal forebrain morphology	7469	NELFA	ORPHA:280
HP:0100547	Abnormal forebrain morphology	22872	SEC31A	OMIM:618651
HP:0100547	Abnormal forebrain morphology	57498	KIDINS220	OMIM:619501
HP:0100547	Abnormal forebrain morphology	55012	PPP2R3C	OMIM:618419
HP:0100547	Abnormal forebrain morphology	6491	STIL	ORPHA:93926
HP:0100547	Abnormal forebrain morphology	6491	STIL	ORPHA:93924
HP:0100547	Abnormal forebrain morphology	6491	STIL	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	6491	STIL	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	6491	STIL	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	51021	MRPS16	OMIM:610498
HP:0100547	Abnormal forebrain morphology	23007	PLCH1	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	10735	STAG2	ORPHA:93925
HP:0100547	Abnormal forebrain morphology	10735	STAG2	OMIM:301043
HP:0100547	Abnormal forebrain morphology	10735	STAG2	ORPHA:220386
HP:0100547	Abnormal forebrain morphology	79731	NARS2	OMIM:616239
HP:0100547	Abnormal forebrain morphology	6602	SMARCD1	OMIM:618779
HP:0100547	Abnormal forebrain morphology	6602	SMARCD1	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	55623	THUMPD1	OMIM:619989
HP:0100547	Abnormal forebrain morphology	3192	HNRNPU	ORPHA:238769
HP:0100547	Abnormal forebrain morphology	9653	HS2ST1	OMIM:619194
HP:0100547	Abnormal forebrain morphology	129563	DIS3L2	OMIM:267000
HP:0100547	Abnormal forebrain morphology	1947	EFNB1	OMIM:304110
HP:0100547	Abnormal forebrain morphology	5518	PPP2R1A	OMIM:616362
HP:0100547	Abnormal forebrain morphology	5518	PPP2R1A	ORPHA:457284
HP:0100547	Abnormal forebrain morphology	1182	CLCN3	OMIM:619512
HP:0100547	Abnormal forebrain morphology	23512	SUZ12	OMIM:618786
HP:0100547	Abnormal forebrain morphology	6608	SMO	OMIM:601707
HP:0100547	Abnormal forebrain morphology	6608	SMO	ORPHA:1553
HP:0100547	Abnormal forebrain morphology	1349	COX7B	OMIM:309801
HP:0100547	Abnormal forebrain morphology	1349	COX7B	OMIM:300887
HP:0100547	Abnormal forebrain morphology	1349	COX7B	ORPHA:2556
HP:0100547	Abnormal forebrain morphology	3052	HCCS	OMIM:309801
HP:0100547	Abnormal forebrain morphology	3052	HCCS	ORPHA:2556
HP:0100547	Abnormal forebrain morphology	54539	NDUFB11	OMIM:309801
HP:0100547	Abnormal forebrain morphology	54539	NDUFB11	ORPHA:2556
HP:0100547	Abnormal forebrain morphology	54539	NDUFB11	OMIM:300952
HP:0100547	Abnormal forebrain morphology	55773	TBC1D23	OMIM:617695
HP:0100547	Abnormal forebrain morphology	5626	PROP1	ORPHA:226307
HP:0100547	Abnormal forebrain morphology	5626	PROP1	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	89884	LHX4	ORPHA:226307
HP:0100547	Abnormal forebrain morphology	89884	LHX4	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	8022	LHX3	ORPHA:226307
HP:0100547	Abnormal forebrain morphology	5449	POU1F1	ORPHA:226307
HP:0100547	Abnormal forebrain morphology	5449	POU1F1	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	8820	HESX1	ORPHA:226307
HP:0100547	Abnormal forebrain morphology	8820	HESX1	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	8820	HESX1	OMIM:182230
HP:0100547	Abnormal forebrain morphology	8820	HESX1	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	4519	MT-CYB	ORPHA:137675
HP:0100547	Abnormal forebrain morphology	5828	PEX2	OMIM:614866
HP:0100547	Abnormal forebrain morphology	6558	SLC12A2	OMIM:619083
HP:0100547	Abnormal forebrain morphology	10236	HNRNPR	OMIM:620073
HP:0100547	Abnormal forebrain morphology	4036	LRP2	OMIM:222448
HP:0100547	Abnormal forebrain morphology	3170	FOXA2	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	5015	OTX2	ORPHA:95494
HP:0100547	Abnormal forebrain morphology	5015	OTX2	ORPHA:990
HP:0100547	Abnormal forebrain morphology	5015	OTX2	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	83479	DDX59	ORPHA:2919
HP:0100547	Abnormal forebrain morphology	83479	DDX59	OMIM:174300
HP:0100547	Abnormal forebrain morphology	11041	B4GAT1	OMIM:615287
HP:0100547	Abnormal forebrain morphology	11041	B4GAT1	ORPHA:899
HP:0100547	Abnormal forebrain morphology	113179	ADAT3	OMIM:615286
HP:0100547	Abnormal forebrain morphology	113179	ADAT3	ORPHA:363528
HP:0100547	Abnormal forebrain morphology	8481	OFD1	OMIM:311200
HP:0100547	Abnormal forebrain morphology	8481	OFD1	ORPHA:2750
HP:0100547	Abnormal forebrain morphology	10472	ZBTB18	OMIM:612337
HP:0100547	Abnormal forebrain morphology	57492	ARID1B	ORPHA:251056
HP:0100547	Abnormal forebrain morphology	57492	ARID1B	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	2271	FH	OMIM:606812
HP:0100547	Abnormal forebrain morphology	63895	PIEZO2	OMIM:248700
HP:0100547	Abnormal forebrain morphology	63895	PIEZO2	ORPHA:2461
HP:0100547	Abnormal forebrain morphology	2239	GPC4	ORPHA:373
HP:0100547	Abnormal forebrain morphology	2239	GPC4	OMIM:312870
HP:0100547	Abnormal forebrain morphology	2719	GPC3	ORPHA:373
HP:0100547	Abnormal forebrain morphology	2719	GPC3	OMIM:312870
HP:0100547	Abnormal forebrain morphology	197258	FCSK	OMIM:618324
HP:0100547	Abnormal forebrain morphology	10463	SLC30A9	OMIM:617595
HP:0100547	Abnormal forebrain morphology	8565	YARS1	OMIM:619418
HP:0100547	Abnormal forebrain morphology	2678	GGT1	OMIM:231950
HP:0100547	Abnormal forebrain morphology	64919	BCL11B	OMIM:617237
HP:0100547	Abnormal forebrain morphology	11023	VAX1	OMIM:614402
HP:0100547	Abnormal forebrain morphology	257	ALX3	OMIM:136760
HP:0100547	Abnormal forebrain morphology	51645	PPIL1	OMIM:619301
HP:0100547	Abnormal forebrain morphology	51362	CDC40	OMIM:619302
HP:0100547	Abnormal forebrain morphology	8621	CDK13	OMIM:617360
HP:0100547	Abnormal forebrain morphology	5881	RAC3	OMIM:618577
HP:0100547	Abnormal forebrain morphology	60529	ALX4	ORPHA:228390
HP:0100547	Abnormal forebrain morphology	55280	CWF19L1	ORPHA:453521
HP:0100547	Abnormal forebrain morphology	3897	L1CAM	ORPHA:2466
HP:0100547	Abnormal forebrain morphology	3897	L1CAM	OMIM:303350
HP:0100547	Abnormal forebrain morphology	3897	L1CAM	OMIM:307000
HP:0100547	Abnormal forebrain morphology	3897	L1CAM	ORPHA:2182
HP:0100547	Abnormal forebrain morphology	9851	KIAA0753	OMIM:617127
HP:0100547	Abnormal forebrain morphology	9990	SLC12A6	ORPHA:1496
HP:0100547	Abnormal forebrain morphology	9990	SLC12A6	OMIM:218000
HP:0100547	Abnormal forebrain morphology	164	AP1G1	OMIM:619548
HP:0100547	Abnormal forebrain morphology	1801	DPH1	ORPHA:459061
HP:0100547	Abnormal forebrain morphology	22827	PUF60	ORPHA:508498
HP:0100547	Abnormal forebrain morphology	5888	RAD51	ORPHA:238722
HP:0100547	Abnormal forebrain morphology	10126	DNAL4	ORPHA:238722
HP:0100547	Abnormal forebrain morphology	9423	NTN1	ORPHA:238722
HP:0100547	Abnormal forebrain morphology	56896	DPYSL5	OMIM:619435
HP:0100547	Abnormal forebrain morphology	2879	GPX4	ORPHA:93317
HP:0100547	Abnormal forebrain morphology	5396	PRRX1	OMIM:202650
HP:0100547	Abnormal forebrain morphology	5396	PRRX1	ORPHA:990
HP:0100547	Abnormal forebrain morphology	7545	ZIC1	OMIM:616602
HP:0100547	Abnormal forebrain morphology	7545	ZIC1	OMIM:618736
HP:0100547	Abnormal forebrain morphology	7473	WNT3	ORPHA:3301
HP:0100547	Abnormal forebrain morphology	340419	RSPO2	ORPHA:3301
HP:0100547	Abnormal forebrain morphology	8050	PDHX	ORPHA:255182
HP:0100547	Abnormal forebrain morphology	55593	OTUD5	OMIM:301056
HP:0100547	Abnormal forebrain morphology	7707	ZNF148	OMIM:617260
HP:0100547	Abnormal forebrain morphology	1436	CSF1R	OMIM:618476
HP:0100547	Abnormal forebrain morphology	5649	RELN	ORPHA:89844
HP:0100547	Abnormal forebrain morphology	10300	KATNB1	ORPHA:89844
HP:0100547	Abnormal forebrain morphology	23030	KDM4B	OMIM:619320
HP:0100547	Abnormal forebrain morphology	5160	PDHA1	OMIM:312170
HP:0100547	Abnormal forebrain morphology	5160	PDHA1	ORPHA:79243
HP:0100547	Abnormal forebrain morphology	1806	DPYD	OMIM:274270
HP:0100547	Abnormal forebrain morphology	55215	FANCI	OMIM:609053
HP:0100547	Abnormal forebrain morphology	27185	DISC1	ORPHA:171703
HP:0100547	Abnormal forebrain morphology	8320	EOMES	ORPHA:171703
HP:0100547	Abnormal forebrain morphology	79133	NDUFAF5	OMIM:618238
HP:0100547	Abnormal forebrain morphology	55997	CFC1	OMIM:605376
HP:0100547	Abnormal forebrain morphology	2218	FKTN	OMIM:236670
HP:0100547	Abnormal forebrain morphology	2218	FKTN	ORPHA:899
HP:0100547	Abnormal forebrain morphology	2218	FKTN	OMIM:253800
HP:0100547	Abnormal forebrain morphology	84892	POMGNT2	ORPHA:899
HP:0100547	Abnormal forebrain morphology	148789	B3GALNT2	ORPHA:899
HP:0100547	Abnormal forebrain morphology	729920	CRPPA	ORPHA:899
HP:0100547	Abnormal forebrain morphology	10329	RXYLT1	ORPHA:899
HP:0100547	Abnormal forebrain morphology	1605	DAG1	ORPHA:899
HP:0100547	Abnormal forebrain morphology	55624	POMGNT1	ORPHA:899
HP:0100547	Abnormal forebrain morphology	55624	POMGNT1	ORPHA:370959
HP:0100547	Abnormal forebrain morphology	6657	SOX2	ORPHA:77298
HP:0100547	Abnormal forebrain morphology	6657	SOX2	OMIM:206900
HP:0100547	Abnormal forebrain morphology	6657	SOX2	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	4784	NFIX	OMIM:602535
HP:0100547	Abnormal forebrain morphology	63925	ZNF335	OMIM:615095
HP:0100547	Abnormal forebrain morphology	2657	GDF1	OMIM:208530
HP:0100547	Abnormal forebrain morphology	85358	SHANK3	ORPHA:48652
HP:0100547	Abnormal forebrain morphology	6598	SMARCB1	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	6659	SOX4	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	8289	ARID1A	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	5977	DPF2	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	6601	SMARCC2	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	196528	ARID2	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	6605	SMARCE1	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	6664	SOX11	ORPHA:1465
HP:0100547	Abnormal forebrain morphology	5831	PYCR1	OMIM:612940
HP:0100547	Abnormal forebrain morphology	1063	CENPF	OMIM:243605
HP:0100547	Abnormal forebrain morphology	9361	LONP1	ORPHA:79243
HP:0100547	Abnormal forebrain morphology	1000	CDH2	OMIM:618929
HP:0100547	Abnormal forebrain morphology	1781	DYNC1I2	OMIM:618492
HP:0100547	Abnormal forebrain morphology	1583	CYP11A1	ORPHA:289548
HP:0100547	Abnormal forebrain morphology	1583	CYP11A1	ORPHA:168558
HP:0100547	Abnormal forebrain morphology	1641	DCX	OMIM:300067
HP:0100547	Abnormal forebrain morphology	7161	TP73	OMIM:619466
HP:0100547	Abnormal forebrain morphology	2009	EML1	OMIM:600348
HP:0100547	Abnormal forebrain morphology	5395	PMS2	OMIM:619101
HP:0100547	Abnormal forebrain morphology	4990	SIX6	OMIM:206900
HP:0100547	Abnormal forebrain morphology	2313	FLI1	ORPHA:2308
HP:0100547	Abnormal forebrain morphology	60386	SLC25A19	ORPHA:99742
HP:0100547	Abnormal forebrain morphology	64840	PORCN	OMIM:305600
HP:0100547	Abnormal forebrain morphology	2290	FOXG1	ORPHA:261144
HP:0100547	Abnormal forebrain morphology	8092	ALX1	ORPHA:306542
HP:0100547	Abnormal forebrain morphology	28962	OSTM1	ORPHA:85179
HP:0100547	Abnormal forebrain morphology	348180	CTU2	OMIM:618142
HP:0100547	Abnormal forebrain morphology	57545	CC2D2A	OMIM:619111
HP:0100547	Abnormal forebrain morphology	1387	CREBBP	OMIM:180849
HP:0100547	Abnormal forebrain morphology	2033	EP300	OMIM:180849
HP:0100547	Abnormal forebrain morphology	9968	MED12	OMIM:309520
HP:0100547	Abnormal forebrain morphology	5162	PDHB	ORPHA:255138
HP:0100547	Abnormal forebrain morphology	5162	PDHB	OMIM:614111
HP:0100547	Abnormal forebrain morphology	1718	DHCR24	ORPHA:35107
HP:0100547	Abnormal forebrain morphology	374879	ZNF699	OMIM:619488
HP:0100547	Abnormal forebrain morphology	55640	FLVCR2	OMIM:225790
HP:0100547	Abnormal forebrain morphology	91875	TTC5	OMIM:619244
HP:0100547	Abnormal forebrain morphology	80210	ARMC9	OMIM:617622
HP:0100547	Abnormal forebrain morphology	6299	SALL1	ORPHA:857
HP:0100547	Abnormal forebrain morphology	51339	DACT1	ORPHA:857
HP:0100547	Abnormal forebrain morphology	118924	FRA10AC1	OMIM:620113
HP:0100547	Abnormal forebrain morphology	113246	C12orf57	OMIM:218340
HP:0100547	Abnormal forebrain morphology	1759	DNM1	OMIM:620352
HP:0100547	Abnormal forebrain morphology	55691	FRMD4A	ORPHA:466688
HP:0100547	Abnormal forebrain morphology	1376	CPT2	OMIM:608836
HP:0100547	Abnormal forebrain morphology	1376	CPT2	ORPHA:228308
HP:0100547	Abnormal forebrain morphology	259266	ASPM	OMIM:608716
HP:0100547	Abnormal forebrain morphology	259266	ASPM	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	2177	FANCD2	OMIM:227646
HP:0100547	Abnormal forebrain morphology	84823	LMNB2	OMIM:616540
HP:0100547	Abnormal forebrain morphology	4781	NFIB	OMIM:618286
HP:0100547	Abnormal forebrain morphology	8777	MPDZ	OMIM:615219
HP:0100547	Abnormal forebrain morphology	5430	POLR2A	OMIM:618603
HP:0100547	Abnormal forebrain morphology	4292	MLH1	OMIM:276300
HP:0100547	Abnormal forebrain morphology	9276	COPB2	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	22995	CEP152	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	284403	WDR62	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	55262	TRAPPC14	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	163786	SASS6	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	84879	MFSD2A	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	4176	MCM7	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	80254	CEP63	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	29081	METTL5	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	23310	NCAPD3	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	55755	CDK5RAP2	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	79648	MCPH1	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	7109	TRAPPC10	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	1911	PHC1	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	6884	TAF13	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	9662	CEP135	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	55835	CENPJ	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	57082	KNL1	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	1021	CDK6	ORPHA:2512
HP:0100547	Abnormal forebrain morphology	18	ABAT	OMIM:613163
HP:0100547	Abnormal forebrain morphology	8449	DHX16	OMIM:618733
HP:0100547	Abnormal forebrain morphology	128674	PROKR2	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	6658	SOX3	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	9915	ARNT2	ORPHA:3157
HP:0100547	Abnormal forebrain morphology	26275	HIBCH	OMIM:250620
HP:0100547	Abnormal forebrain morphology	58499	ZNF462	OMIM:618619
HP:0100547	Abnormal forebrain morphology	23417	MLYCD	OMIM:248360
HP:0100547	Abnormal forebrain morphology	10716	TBR1	OMIM:606053
HP:0100547	Abnormal forebrain morphology	9508	ADAMTS3	ORPHA:2136
HP:0100547	Abnormal forebrain morphology	147372	CCBE1	ORPHA:2136
HP:0100547	Abnormal forebrain morphology	147372	CCBE1	OMIM:235510
HP:0100547	Abnormal forebrain morphology	84978	FRMD5	OMIM:620094
HP:0100547	Abnormal forebrain morphology	1496	CTNNA2	OMIM:618174
HP:0100547	Abnormal forebrain morphology	2108	ETFA	OMIM:231680
HP:0100547	Abnormal forebrain morphology	2109	ETFB	OMIM:231680
HP:0100547	Abnormal forebrain morphology	2110	ETFDH	OMIM:231680
HP:0100547	Abnormal forebrain morphology	6748	SSR4	ORPHA:370927
HP:0100547	Abnormal forebrain morphology	2146	EZH2	OMIM:277590
HP:0100547	Abnormal forebrain morphology	55790	CSGALNACT1	OMIM:618870
HP:0100547	Abnormal forebrain morphology	10765	KDM5B	OMIM:618109
HP:0100547	Abnormal forebrain morphology	6938	TCF12	OMIM:615314
HP:0100547	Abnormal forebrain morphology	139285	AMER1	OMIM:300373
HP:0100547	Abnormal forebrain morphology	79068	FTO	OMIM:612938
HP:0100547	Abnormal forebrain morphology	412	STS	ORPHA:281090
HP:0100547	Abnormal forebrain morphology	3730	ANOS1	OMIM:308700
HP:0100547	Abnormal forebrain morphology	1908	EDN3	ORPHA:897
HP:0100547	Abnormal forebrain morphology	1910	EDNRB	ORPHA:897
HP:0100547	Abnormal forebrain morphology	6611	SMS	ORPHA:3063
HP:0100547	Abnormal forebrain morphology	51256	TBC1D7	OMIM:248000
HP:0100547	Abnormal forebrain morphology	8738	CRADD	OMIM:614499
HP:0100547	Abnormal forebrain morphology	5274	SERPINI1	OMIM:604218
HP:0100547	Abnormal forebrain morphology	199857	ALG14	OMIM:619036
HP:0100547	Abnormal forebrain morphology	162	AP1B1	OMIM:242150
HP:0100547	Abnormal forebrain morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0100547	Abnormal forebrain morphology	54476	RNF216	OMIM:212840
HP:0100547	Abnormal forebrain morphology	7345	UCHL1	OMIM:615491
HP:0100547	Abnormal forebrain morphology	5105	PCK1	OMIM:261680
HP:0100547	Abnormal forebrain morphology	8772	FADD	OMIM:613759
HP:0100547	Abnormal forebrain morphology	8772	FADD	ORPHA:306550
HP:0100547	Abnormal forebrain morphology	5095	PCCA	OMIM:606054
HP:0100547	Abnormal forebrain morphology	5096	PCCB	OMIM:606054
HP:0100547	Abnormal forebrain morphology	1327	COX4I1	OMIM:619060
HP:0100547	Abnormal forebrain morphology	5833	PCYT2	OMIM:618770
HP:0100547	Abnormal forebrain morphology	55775	TDP1	OMIM:607250
HP:0100547	Abnormal forebrain morphology	1201	CLN3	OMIM:204200
HP:0100547	Abnormal forebrain morphology	5826	ABCD4	OMIM:614857
HP:0100547	Abnormal forebrain morphology	51604	PIGT	OMIM:615398
HP:0100547	Abnormal forebrain morphology	10531	PITRM1	OMIM:619405
HP:0100547	Abnormal forebrain morphology	256471	MFSD8	OMIM:610951
HP:0100547	Abnormal forebrain morphology	339855	KY	ORPHA:496689
HP:0100547	Abnormal forebrain morphology	23189	KANK1	OMIM:612900
HP:0100547	Abnormal forebrain morphology	6314	ATXN7	ORPHA:94147
HP:0100547	Abnormal forebrain morphology	26100	WIPI2	OMIM:618453
HP:0100547	Abnormal forebrain morphology	7167	TPI1	OMIM:615512
HP:0100547	Abnormal forebrain morphology	132	ADK	OMIM:614300
HP:0100547	Abnormal forebrain morphology	57520	HECW2	OMIM:617268
HP:0100547	Abnormal forebrain morphology	54822	TRPM7	OMIM:105500
HP:0100547	Abnormal forebrain morphology	1760	DMPK	OMIM:160900
HP:0100547	Abnormal forebrain morphology	23732	FRRS1L	OMIM:616981
HP:0100547	Abnormal forebrain morphology	29940	DSE	OMIM:615539
HP:0100547	Abnormal forebrain morphology	5611	DNAJC3	OMIM:616192
HP:0100547	Abnormal forebrain morphology	5611	DNAJC3	ORPHA:445062
HP:0100547	Abnormal forebrain morphology	84896	ATAD1	OMIM:618011
HP:0100547	Abnormal forebrain morphology	4548	MTR	OMIM:250940
HP:0100547	Abnormal forebrain morphology	51095	TRNT1	OMIM:616084
HP:0100547	Abnormal forebrain morphology	2517	FUCA1	OMIM:230000
HP:0100547	Abnormal forebrain morphology	203228	C9orf72	OMIM:105550
HP:0100547	Abnormal forebrain morphology	1200	TPP1	OMIM:204500
HP:0100547	Abnormal forebrain morphology	617	BCS1L	OMIM:124000
HP:0100547	Abnormal forebrain morphology	26503	SLC17A5	OMIM:269920
HP:0100547	Abnormal forebrain morphology	9197	SLC33A1	OMIM:614482
HP:0100547	Abnormal forebrain morphology	2138	EYA1	OMIM:113650
HP:0100547	Abnormal forebrain morphology	6495	SIX1	OMIM:113650
HP:0100547	Abnormal forebrain morphology	8036	SHOC2	OMIM:607721
HP:0100547	Abnormal forebrain morphology	6844	VAMP2	OMIM:618760
HP:0100547	Abnormal forebrain morphology	57178	ZMIZ1	OMIM:618659
HP:0100547	Abnormal forebrain morphology	9533	POLR1C	OMIM:616494
HP:0100547	Abnormal forebrain morphology	253959	RALGAPA1	OMIM:618797
HP:0100547	Abnormal forebrain morphology	51098	IFT52	OMIM:617102
HP:0100547	Abnormal forebrain morphology	4849	CNOT3	OMIM:618672
HP:0100547	Abnormal forebrain morphology	7841	MOGS	ORPHA:79330
HP:0100547	Abnormal forebrain morphology	7841	MOGS	OMIM:606056
HP:0100547	Abnormal forebrain morphology	51062	ATL1	OMIM:182600
HP:0100547	Abnormal forebrain morphology	7040	TGFB1	OMIM:618213
HP:0100547	Abnormal forebrain morphology	2671	GFER	ORPHA:330054
HP:0100547	Abnormal forebrain morphology	11160	ERLIN2	ORPHA:209951
HP:0100547	Abnormal forebrain morphology	11160	ERLIN2	OMIM:611225
HP:0100547	Abnormal forebrain morphology	128869	PIGU	OMIM:618590
HP:0100547	Abnormal forebrain morphology	5631	PRPS1	ORPHA:423479
HP:0100547	Abnormal forebrain morphology	2560	GABRB1	OMIM:617153
HP:0100547	Abnormal forebrain morphology	8883	NAE1	OMIM:620210
HP:0100547	Abnormal forebrain morphology	50801	KCNK4	OMIM:618381
HP:0100547	Abnormal forebrain morphology	2571	GAD1	OMIM:619124
HP:0100547	Abnormal forebrain morphology	285590	SH3PXD2B	OMIM:249420
HP:0100547	Abnormal forebrain morphology	8911	CACNA1I	OMIM:620114
HP:0100547	Abnormal forebrain morphology	10682	EBP	ORPHA:401973
HP:0100547	Abnormal forebrain morphology	6095	RORA	OMIM:618060
HP:0100547	Abnormal forebrain morphology	80222	TARS2	OMIM:615918
HP:0100547	Abnormal forebrain morphology	501	ALDH7A1	ORPHA:3006
HP:0100547	Abnormal forebrain morphology	80856	LNPK	OMIM:618090
HP:0100547	Abnormal forebrain morphology	2752	GLUL	OMIM:610015
HP:0100547	Abnormal forebrain morphology	79753	SNIP1	OMIM:614501
HP:0100547	Abnormal forebrain morphology	51244	CCDC174	OMIM:616816
HP:0100547	Abnormal forebrain morphology	51322	WAC	ORPHA:284169
HP:0100547	Abnormal forebrain morphology	51322	WAC	OMIM:616708
HP:0100547	Abnormal forebrain morphology	200403	VWA3B	OMIM:616948
HP:0100547	Abnormal forebrain morphology	85021	REPS1	OMIM:617916
HP:0100547	Abnormal forebrain morphology	57165	GJC2	OMIM:613206
HP:0100547	Abnormal forebrain morphology	23291	FBXW11	OMIM:618914
HP:0100547	Abnormal forebrain morphology	51218	GLRX5	OMIM:616859
HP:0100547	Abnormal forebrain morphology	23511	NUP188	OMIM:618804
HP:0100547	Abnormal forebrain morphology	340075	ARSI	ORPHA:401815
HP:0100547	Abnormal forebrain morphology	51663	ZFR	ORPHA:401840
HP:0100547	Abnormal forebrain morphology	1468	SLC25A10	OMIM:618972
HP:0100547	Abnormal forebrain morphology	5307	PITX1	OMIM:119800
HP:0100547	Abnormal forebrain morphology	55331	ACER3	OMIM:617762
HP:0100547	Abnormal forebrain morphology	84148	KAT8	OMIM:618974
HP:0100547	Abnormal forebrain morphology	25792	CIZ1	ORPHA:420492
HP:0100547	Abnormal forebrain morphology	4702	NDUFA8	OMIM:619272
HP:0100547	Abnormal forebrain morphology	773	CACNA1A	OMIM:183086
HP:0100547	Abnormal forebrain morphology	1183	CLCN4	OMIM:300114
HP:0100547	Abnormal forebrain morphology	1183	CLCN4	ORPHA:485350
HP:0100547	Abnormal forebrain morphology	5393	EXOSC9	OMIM:618065
HP:0100547	Abnormal forebrain morphology	5393	EXOSC9	ORPHA:2254
HP:0100547	Abnormal forebrain morphology	23556	PIGN	ORPHA:2059
HP:0100547	Abnormal forebrain morphology	400916	CHCHD10	OMIM:615911
HP:0100547	Abnormal forebrain morphology	673	BRAF	OMIM:115150
HP:0100547	Abnormal forebrain morphology	673	BRAF	ORPHA:1340
HP:0100547	Abnormal forebrain morphology	54820	NDE1	ORPHA:2177
HP:0100547	Abnormal forebrain morphology	7360	UGP2	OMIM:618744
HP:0100547	Abnormal forebrain morphology	145173	B3GLCT	ORPHA:709
HP:0100547	Abnormal forebrain morphology	5457	POU4F1	ORPHA:314647
HP:0100547	Abnormal forebrain morphology	23261	CAMTA1	ORPHA:314647
HP:0100547	Abnormal forebrain morphology	23261	CAMTA1	OMIM:614756
HP:0100547	Abnormal forebrain morphology	10667	FARS2	OMIM:614946
HP:0100547	Abnormal forebrain morphology	8496	PPFIBP1	OMIM:620024
HP:0100547	Abnormal forebrain morphology	23126	POGZ	ORPHA:468678
HP:0100547	Abnormal forebrain morphology	5521	PPP2R2B	OMIM:604326
HP:0100547	Abnormal forebrain morphology	6687	SPG7	ORPHA:99013
HP:0100547	Abnormal forebrain morphology	6687	SPG7	OMIM:607259
HP:0100547	Abnormal forebrain morphology	4552	MTRR	OMIM:236270
HP:0100547	Abnormal forebrain morphology	54209	TREM2	OMIM:618193
HP:0100547	Abnormal forebrain morphology	54209	TREM2	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	54209	TREM2	ORPHA:2770
HP:0100547	Abnormal forebrain morphology	4125	MAN2B1	ORPHA:309282
HP:0100547	Abnormal forebrain morphology	4125	MAN2B1	ORPHA:309288
HP:0100547	Abnormal forebrain morphology	4125	MAN2B1	OMIM:248500
HP:0100547	Abnormal forebrain morphology	51112	TRAPPC12	ORPHA:500144
HP:0100547	Abnormal forebrain morphology	51112	TRAPPC12	OMIM:617669
HP:0100547	Abnormal forebrain morphology	54968	TMEM70	ORPHA:1194
HP:0100547	Abnormal forebrain morphology	3020	H3-3A	OMIM:619720
HP:0100547	Abnormal forebrain morphology	8722	CTSF	OMIM:615362
HP:0100547	Abnormal forebrain morphology	387787	LIPT2	OMIM:617668
HP:0100547	Abnormal forebrain morphology	84520	GON7	OMIM:619603
HP:0100547	Abnormal forebrain morphology	23431	AP4E1	OMIM:613744
HP:0100547	Abnormal forebrain morphology	23431	AP4E1	ORPHA:280763
HP:0100547	Abnormal forebrain morphology	57582	KCNT1	OMIM:614959
HP:0100547	Abnormal forebrain morphology	10978	CLP1	OMIM:615803
HP:0100547	Abnormal forebrain morphology	79158	GNPTAB	OMIM:252500
HP:0100547	Abnormal forebrain morphology	271	AMPD2	OMIM:615809
HP:0100547	Abnormal forebrain morphology	5189	PEX1	OMIM:214100
HP:0100547	Abnormal forebrain morphology	55650	PIGV	OMIM:239300
HP:0100547	Abnormal forebrain morphology	2192	FBLN1	ORPHA:404451
HP:0100547	Abnormal forebrain morphology	348	APOE	OMIM:607822
HP:0100547	Abnormal forebrain morphology	5663	PSEN1	OMIM:607822
HP:0100547	Abnormal forebrain morphology	5663	PSEN1	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	51360	MBTPS2	ORPHA:2273
HP:0100547	Abnormal forebrain morphology	3074	HEXB	ORPHA:309155
HP:0100547	Abnormal forebrain morphology	10134	BCAP31	ORPHA:369939
HP:0100547	Abnormal forebrain morphology	5832	ALDH18A1	OMIM:616586
HP:0100547	Abnormal forebrain morphology	5832	ALDH18A1	ORPHA:447760
HP:0100547	Abnormal forebrain morphology	7343	UBTF	OMIM:617672
HP:0100547	Abnormal forebrain morphology	91869	RFT1	ORPHA:244310
HP:0100547	Abnormal forebrain morphology	9326	ZNHIT3	ORPHA:2836
HP:0100547	Abnormal forebrain morphology	547	KIF1A	ORPHA:2836
HP:0100547	Abnormal forebrain morphology	2260	FGFR1	ORPHA:2396
HP:0100547	Abnormal forebrain morphology	3845	KRAS	ORPHA:2396
HP:0100547	Abnormal forebrain morphology	3845	KRAS	ORPHA:1340
HP:0100547	Abnormal forebrain morphology	2018	EMX2	OMIM:269160
HP:0100547	Abnormal forebrain morphology	6496	SIX3	OMIM:269160
HP:0100547	Abnormal forebrain morphology	6469	SHH	OMIM:269160
HP:0100547	Abnormal forebrain morphology	546	ATRX	ORPHA:847
HP:0100547	Abnormal forebrain morphology	5191	PEX7	OMIM:215100
HP:0100547	Abnormal forebrain morphology	2332	FMR1	ORPHA:93256
HP:0100547	Abnormal forebrain morphology	2332	FMR1	ORPHA:908
HP:0100547	Abnormal forebrain morphology	23400	ATP13A2	ORPHA:513436
HP:0100547	Abnormal forebrain morphology	23400	ATP13A2	ORPHA:306674
HP:0100547	Abnormal forebrain morphology	23400	ATP13A2	OMIM:617225
HP:0100547	Abnormal forebrain morphology	652	BMP4	OMIM:607932
HP:0100547	Abnormal forebrain morphology	57231	SNX14	OMIM:616354
HP:0100547	Abnormal forebrain morphology	132158	GLYCTK	OMIM:220120
HP:0100547	Abnormal forebrain morphology	10347	ABCA7	OMIM:608907
HP:0100547	Abnormal forebrain morphology	10347	ABCA7	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	246243	RNASEH1	OMIM:616479
HP:0100547	Abnormal forebrain morphology	80208	SPG11	ORPHA:2822
HP:0100547	Abnormal forebrain morphology	80208	SPG11	OMIM:604360
HP:0100547	Abnormal forebrain morphology	51761	ATP8A2	OMIM:615268
HP:0100547	Abnormal forebrain morphology	23230	VPS13A	ORPHA:2388
HP:0100547	Abnormal forebrain morphology	4582	MUC1	OMIM:174000
HP:0100547	Abnormal forebrain morphology	9487	PIGL	ORPHA:3474
HP:0100547	Abnormal forebrain morphology	57338	JPH3	ORPHA:98934
HP:0100547	Abnormal forebrain morphology	57338	JPH3	OMIM:606438
HP:0100547	Abnormal forebrain morphology	23265	EXOC7	OMIM:619072
HP:0100547	Abnormal forebrain morphology	699	BUB1	OMIM:620183
HP:0100547	Abnormal forebrain morphology	1798	DPAGT1	ORPHA:86309
HP:0100547	Abnormal forebrain morphology	3028	HSD17B10	OMIM:300438
HP:0100547	Abnormal forebrain morphology	55699	IARS2	OMIM:616007
HP:0100547	Abnormal forebrain morphology	54902	TTC19	OMIM:615157
HP:0100547	Abnormal forebrain morphology	6804	STX1A	ORPHA:904
HP:0100547	Abnormal forebrain morphology	7461	CLIP2	ORPHA:904
HP:0100547	Abnormal forebrain morphology	84277	DNAJC30	ORPHA:904
HP:0100547	Abnormal forebrain morphology	8468	FKBP6	ORPHA:904
HP:0100547	Abnormal forebrain morphology	5982	RFC2	ORPHA:904
HP:0100547	Abnormal forebrain morphology	2969	GTF2I	ORPHA:904
HP:0100547	Abnormal forebrain morphology	3984	LIMK1	ORPHA:904
HP:0100547	Abnormal forebrain morphology	9569	GTF2IRD1	ORPHA:904
HP:0100547	Abnormal forebrain morphology	155382	VPS37D	ORPHA:904
HP:0100547	Abnormal forebrain morphology	155368	METTL27	ORPHA:904
HP:0100547	Abnormal forebrain morphology	114049	BUD23	ORPHA:904
HP:0100547	Abnormal forebrain morphology	7458	EIF4H	ORPHA:904
HP:0100547	Abnormal forebrain morphology	84163	GTF2IRD2	ORPHA:904
HP:0100547	Abnormal forebrain morphology	9275	BCL7B	ORPHA:904
HP:0100547	Abnormal forebrain morphology	26608	TBL2	ORPHA:904
HP:0100547	Abnormal forebrain morphology	653361	NCF1	ORPHA:904
HP:0100547	Abnormal forebrain morphology	135886	TMEM270	ORPHA:904
HP:0100547	Abnormal forebrain morphology	51085	MLXIPL	ORPHA:904
HP:0100547	Abnormal forebrain morphology	9031	BAZ1B	ORPHA:904
HP:0100547	Abnormal forebrain morphology	11340	EXOSC8	ORPHA:2254
HP:0100547	Abnormal forebrain morphology	11340	EXOSC8	OMIM:616081
HP:0100547	Abnormal forebrain morphology	51010	EXOSC3	ORPHA:2254
HP:0100547	Abnormal forebrain morphology	7443	VRK1	ORPHA:2254
HP:0100547	Abnormal forebrain morphology	7443	VRK1	OMIM:607596
HP:0100547	Abnormal forebrain morphology	91137	SLC25A46	ORPHA:2254
HP:0100547	Abnormal forebrain morphology	4191	MDH2	OMIM:617339
HP:0100547	Abnormal forebrain morphology	5590	PRKCZ	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	2563	GABRD	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	23013	SPEN	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	8510	MMP23B	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	7798	LUZP1	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	6497	SKI	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	10630	PDPN	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	3339	HSPG2	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	10277	UBE4B	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	8514	KCNAB2	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	473	RERE	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	63976	PRDM16	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	54897	CASZ1	ORPHA:1606
HP:0100547	Abnormal forebrain morphology	493856	CISD2	ORPHA:3463
HP:0100547	Abnormal forebrain morphology	7466	WFS1	ORPHA:3463
HP:0100547	Abnormal forebrain morphology	6638	SNRPN	OMIM:105830
HP:0100547	Abnormal forebrain morphology	6638	SNRPN	ORPHA:177907
HP:0100547	Abnormal forebrain morphology	7337	UBE3A	OMIM:105830
HP:0100547	Abnormal forebrain morphology	1859	DYRK1A	ORPHA:464311
HP:0100547	Abnormal forebrain morphology	1859	DYRK1A	ORPHA:268261
HP:0100547	Abnormal forebrain morphology	1859	DYRK1A	OMIM:614104
HP:0100547	Abnormal forebrain morphology	2896	GRN	OMIM:607485
HP:0100547	Abnormal forebrain morphology	11128	POLR3A	ORPHA:447896
HP:0100547	Abnormal forebrain morphology	11128	POLR3A	OMIM:607694
HP:0100547	Abnormal forebrain morphology	55343	SLC35C1	OMIM:266265
HP:0100547	Abnormal forebrain morphology	8517	IKBKG	ORPHA:464
HP:0100547	Abnormal forebrain morphology	4644	MYO5A	ORPHA:33445
HP:0100547	Abnormal forebrain morphology	51633	OTUD6B	ORPHA:505237
HP:0100547	Abnormal forebrain morphology	4094	MAF	ORPHA:1272
HP:0100547	Abnormal forebrain morphology	5621	PRNP	ORPHA:157941
HP:0100547	Abnormal forebrain morphology	56098	PCDHGC4	OMIM:619880
HP:0100547	Abnormal forebrain morphology	25973	PARS2	OMIM:618437
HP:0100547	Abnormal forebrain morphology	54499	TMCO1	ORPHA:1394
HP:0100547	Abnormal forebrain morphology	9562	MINPP1	OMIM:619527
HP:0100547	Abnormal forebrain morphology	2558	GABRA5	OMIM:618559
HP:0100547	Abnormal forebrain morphology	6311	ATXN2	ORPHA:98756
HP:0100547	Abnormal forebrain morphology	8573	CASK	ORPHA:163937
HP:0100547	Abnormal forebrain morphology	22906	TRAK1	OMIM:618201
HP:0100547	Abnormal forebrain morphology	22930	RAB3GAP1	ORPHA:1387
HP:0100547	Abnormal forebrain morphology	22930	RAB3GAP1	ORPHA:2510
HP:0100547	Abnormal forebrain morphology	25782	RAB3GAP2	ORPHA:1387
HP:0100547	Abnormal forebrain morphology	25782	RAB3GAP2	ORPHA:401830
HP:0100547	Abnormal forebrain morphology	25782	RAB3GAP2	ORPHA:2510
HP:0100547	Abnormal forebrain morphology	5664	PSEN2	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	10452	TOMM40	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	351	APP	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	6653	SORL1	ORPHA:1020
HP:0100547	Abnormal forebrain morphology	64116	SLC39A8	ORPHA:468699
HP:0100547	Abnormal forebrain morphology	404672	GTF2H5	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	833	CARS1	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	2068	ERCC2	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	2068	ERCC2	ORPHA:910
HP:0100547	Abnormal forebrain morphology	2068	ERCC2	ORPHA:1466
HP:0100547	Abnormal forebrain morphology	7737	RNF113A	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	136647	MPLKIP	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	136647	MPLKIP	OMIM:234050
HP:0100547	Abnormal forebrain morphology	6897	TARS1	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	2071	ERCC3	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	2071	ERCC3	ORPHA:910
HP:0100547	Abnormal forebrain morphology	2961	GTF2E2	ORPHA:33364
HP:0100547	Abnormal forebrain morphology	51750	RTEL1	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	65057	ACD	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	5073	PARN	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	7015	TERT	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	26277	TINF2	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	1736	DKC1	ORPHA:3322
HP:0100547	Abnormal forebrain morphology	79053	ALG8	ORPHA:79325
HP:0100547	Abnormal forebrain morphology	2776	GNAQ	ORPHA:3205
HP:0100547	Abnormal forebrain morphology	2776	GNAQ	OMIM:185300
HP:0100547	Abnormal forebrain morphology	8295	TRRAP	OMIM:618454
HP:0100547	Abnormal forebrain morphology	58497	PRUNE1	OMIM:617481
HP:0100547	Abnormal forebrain morphology	2583	B4GALNT1	OMIM:609195
HP:0100547	Abnormal forebrain morphology	2583	B4GALNT1	ORPHA:101006
HP:0100547	Abnormal forebrain morphology	7407	VARS1	OMIM:617802
HP:0100547	Abnormal forebrain morphology	57724	EPG5	ORPHA:1493
HP:0100547	Abnormal forebrain morphology	4204	MECP2	OMIM:312750
HP:0100547	Abnormal forebrain morphology	81603	TRIM8	OMIM:619428
HP:0100547	Abnormal forebrain morphology	5277	PIGA	OMIM:301072
HP:0100547	Abnormal forebrain morphology	5277	PIGA	OMIM:300868
HP:0100547	Abnormal forebrain morphology	7507	XPA	ORPHA:910
HP:0100547	Abnormal forebrain morphology	7508	XPC	ORPHA:910
HP:0100547	Abnormal forebrain morphology	1643	DDB2	ORPHA:910
HP:0100547	Abnormal forebrain morphology	2072	ERCC4	ORPHA:910
HP:0100547	Abnormal forebrain morphology	2073	ERCC5	ORPHA:910
HP:0100547	Abnormal forebrain morphology	2073	ERCC5	ORPHA:1466
HP:0100547	Abnormal forebrain morphology	55703	POLR3B	OMIM:607694
HP:0100547	Abnormal forebrain morphology	1203	CLN5	ORPHA:228360
HP:0100547	Abnormal forebrain morphology	1203	CLN5	OMIM:256731
HP:0100547	Abnormal forebrain morphology	4558	MT-TF	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4572	MT-TQ	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4512	MT-CO1	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4513	MT-CO2	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4514	MT-CO3	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4578	MT-TW	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4540	MT-ND5	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4541	MT-ND6	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4535	MT-ND1	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4538	MT-ND4	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4567	MT-TL1	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4574	MT-TS1	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4575	MT-TS2	ORPHA:550
HP:0100547	Abnormal forebrain morphology	4564	MT-TH	ORPHA:550
HP:0100547	Abnormal forebrain morphology	27238	GPKOW	ORPHA:2570
HP:0100547	Abnormal forebrain morphology	8925	HERC1	OMIM:617011
HP:0100547	Abnormal forebrain morphology	8925	HERC1	ORPHA:457359
HP:0100547	Abnormal forebrain morphology	92935	MARS2	OMIM:611390
HP:0100547	Abnormal forebrain morphology	92935	MARS2	ORPHA:314603
HP:0100547	Abnormal forebrain morphology	4598	MVK	ORPHA:29
HP:0100547	Abnormal forebrain morphology	54832	VPS13C	OMIM:616840
HP:0100547	Abnormal forebrain morphology	55746	NUP133	OMIM:618349
HP:0100547	Abnormal forebrain morphology	79813	EHMT1	ORPHA:96147
HP:0100547	Abnormal forebrain morphology	57679	ALS2	OMIM:606353
HP:0100547	Abnormal forebrain morphology	27249	MMADHC	OMIM:277410
HP:0100547	Abnormal forebrain morphology	55630	SLC39A4	ORPHA:37
HP:0100547	Abnormal forebrain morphology	2902	GRIN1	OMIM:617820
HP:0100547	Abnormal forebrain morphology	8085	KMT2D	ORPHA:2322
HP:0100547	Abnormal forebrain morphology	7403	KDM6A	ORPHA:2322
HP:0100547	Abnormal forebrain morphology	998	CDC42	OMIM:616737
HP:0100547	Abnormal forebrain morphology	50	ACO2	OMIM:614559
HP:0100547	Abnormal forebrain morphology	10166	SLC25A15	ORPHA:415
HP:0100547	Abnormal forebrain morphology	10166	SLC25A15	OMIM:238970
HP:0100547	Abnormal forebrain morphology	6904	TBCD	ORPHA:496641
HP:0100547	Abnormal forebrain morphology	29925	GMPPB	ORPHA:370968
HP:0100547	Abnormal forebrain morphology	79147	FKRP	ORPHA:370968
HP:0100547	Abnormal forebrain morphology	29954	POMT2	ORPHA:370968
HP:0100547	Abnormal forebrain morphology	29954	POMT2	OMIM:613156
HP:0100547	Abnormal forebrain morphology	9215	LARGE1	ORPHA:370968
HP:0100547	Abnormal forebrain morphology	10585	POMT1	ORPHA:370968
HP:0100547	Abnormal forebrain morphology	56915	EXOSC5	OMIM:619576
HP:0100547	Abnormal forebrain morphology	23221	RHOBTB2	OMIM:618004
HP:0100547	Abnormal forebrain morphology	8867	SYNJ1	OMIM:615530
HP:0100547	Abnormal forebrain morphology	6928	HNF1B	OMIM:137920
HP:0100547	Abnormal forebrain morphology	2067	ERCC1	ORPHA:1466
HP:0100547	Abnormal forebrain morphology	2074	ERCC6	ORPHA:1466
HP:0100547	Abnormal forebrain morphology	6709	SPTAN1	OMIM:613477
HP:0100547	Abnormal forebrain morphology	54834	GDAP2	OMIM:618369
HP:0100547	Abnormal forebrain morphology	2629	GBA1	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	23317	DNAJC13	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	1981	EIF4G1	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	55737	VPS35	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	120892	LRRK2	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	26058	GIGYF2	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	6622	SNCA	ORPHA:411602
HP:0100547	Abnormal forebrain morphology	5604	MAP2K1	ORPHA:1340
HP:0100547	Abnormal forebrain morphology	5605	MAP2K2	ORPHA:1340
HP:0100547	Abnormal forebrain morphology	51608	GET4	OMIM:620200
HP:0100547	Abnormal forebrain morphology	100506658	OCLN	ORPHA:1229
HP:0100547	Abnormal forebrain morphology	3265	HRAS	ORPHA:3071
HP:0100547	Abnormal forebrain morphology	9758	FRMPD4	OMIM:300983
HP:0100547	Abnormal forebrain morphology	83696	TRAPPC9	ORPHA:352530
HP:0100547	Abnormal forebrain morphology	128637	TBC1D20	OMIM:615663
HP:0100547	Abnormal forebrain morphology	128637	TBC1D20	ORPHA:2510
HP:0100547	Abnormal forebrain morphology	26040	SETBP1	ORPHA:798
HP:0100547	Abnormal forebrain morphology	23476	BRD4	ORPHA:199
HP:0100547	Abnormal forebrain morphology	9126	SMC3	ORPHA:199
HP:0100547	Abnormal forebrain morphology	8243	SMC1A	ORPHA:199
HP:0100547	Abnormal forebrain morphology	25836	NIPBL	ORPHA:199
HP:0100547	Abnormal forebrain morphology	55869	HDAC8	ORPHA:199
HP:0100547	Abnormal forebrain morphology	5885	RAD21	ORPHA:199
HP:0100547	Abnormal forebrain morphology	7399	USH2A	ORPHA:231178
HP:0100547	Abnormal forebrain morphology	79955	PDZD7	ORPHA:231178
HP:0100547	Abnormal forebrain morphology	4647	MYO7A	ORPHA:231178
HP:0100547	Abnormal forebrain morphology	4647	MYO7A	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	25861	WHRN	ORPHA:231178
HP:0100547	Abnormal forebrain morphology	84059	ADGRV1	ORPHA:231178
HP:0100547	Abnormal forebrain morphology	6197	RPS6KA3	ORPHA:192
HP:0100547	Abnormal forebrain morphology	9150	CTDP1	ORPHA:48431
HP:0100547	Abnormal forebrain morphology	94005	PIGS	OMIM:618143
HP:0100547	Abnormal forebrain morphology	22866	CNKSR2	OMIM:301008
HP:0100547	Abnormal forebrain morphology	22931	RAB18	OMIM:614222
HP:0100547	Abnormal forebrain morphology	22931	RAB18	ORPHA:2510
HP:0100547	Abnormal forebrain morphology	7305	TYROBP	ORPHA:2770
HP:0100547	Abnormal forebrain morphology	8905	AP1S2	ORPHA:1568
HP:0100547	Abnormal forebrain morphology	10283	CWC27	ORPHA:166035
HP:0100547	Abnormal forebrain morphology	80055	PGAP1	ORPHA:401820
HP:0100547	Abnormal forebrain morphology	60558	GUF1	OMIM:617065
HP:0100547	Abnormal forebrain morphology	122553	TRAPPC6B	OMIM:617862
HP:0100547	Abnormal forebrain morphology	2893	GRIA4	OMIM:617864
HP:0100547	Abnormal forebrain morphology	79152	FA2H	ORPHA:171629
HP:0100547	Abnormal forebrain morphology	57038	RARS2	OMIM:611523
HP:0100547	Abnormal forebrain morphology	55164	SHQ1	OMIM:619922
HP:0100547	Abnormal forebrain morphology	57704	GBA2	ORPHA:320391
HP:0100547	Abnormal forebrain morphology	6785	ELOVL4	OMIM:133190
HP:0100547	Abnormal forebrain morphology	3090	HIC1	ORPHA:531
HP:0100547	Abnormal forebrain morphology	7531	YWHAE	ORPHA:531
HP:0100547	Abnormal forebrain morphology	10717	AP4B1	ORPHA:280763
HP:0100547	Abnormal forebrain morphology	9179	AP4M1	ORPHA:280763
HP:0100547	Abnormal forebrain morphology	11154	AP4S1	ORPHA:280763
HP:0100547	Abnormal forebrain morphology	95	ACY1	OMIM:609924
HP:0100547	Abnormal forebrain morphology	25978	CHMP2B	OMIM:600795
HP:0100547	Abnormal forebrain morphology	1716	DGUOK	OMIM:617070
HP:0100547	Abnormal forebrain morphology	340533	NEXMIF	ORPHA:85277
HP:0100547	Abnormal forebrain morphology	29920	PYCR2	OMIM:616420
HP:0100547	Abnormal forebrain morphology	10479	SLC9A6	ORPHA:85278
HP:0100547	Abnormal forebrain morphology	777	CACNA1E	OMIM:618285
HP:0100547	Abnormal forebrain morphology	85378	TUBGCP6	ORPHA:2518
HP:0100547	Abnormal forebrain morphology	27229	TUBGCP4	ORPHA:2518
HP:0100547	Abnormal forebrain morphology	10733	PLK4	ORPHA:2518
HP:0100547	Abnormal forebrain morphology	55005	RMND1	OMIM:614922
HP:0100547	Abnormal forebrain morphology	4693	NDP	ORPHA:649
HP:0100547	Abnormal forebrain morphology	71	ACTG1	ORPHA:2995
HP:0100547	Abnormal forebrain morphology	60	ACTB	ORPHA:2995
HP:0100547	Abnormal forebrain morphology	2801	GOLGA2	OMIM:620240
HP:0100547	Abnormal forebrain morphology	23299	BICD2	OMIM:618291
HP:0100547	Abnormal forebrain morphology	64072	CDH23	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	10083	USH1C	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	124590	USH1G	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	83715	ESPN	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	10518	CIB2	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	65217	PCDH15	ORPHA:231169
HP:0100547	Abnormal forebrain morphology	116150	NUS1	OMIM:617082
HP:0100547	Abnormal forebrain morphology	23404	EXOSC2	OMIM:617763
HP:0100547	Abnormal forebrain morphology	79587	CARS2	OMIM:616672
HP:0100547	Abnormal forebrain morphology	221692	PHACTR1	OMIM:618298
HP:0100547	Abnormal forebrain morphology	4858	NOVA2	OMIM:618859
HP:0100547	Abnormal forebrain morphology	29110	TBK1	OMIM:616439
HP:0100547	Abnormal forebrain morphology	170302	ARX	ORPHA:2508
HP:0100547	Abnormal forebrain morphology	8878	SQSTM1	OMIM:616437
HP:0100547	Abnormal forebrain morphology	25974	MMACHC	OMIM:277400
HP:0100547	Abnormal forebrain morphology	5052	PRDX1	OMIM:277400
HP:0100547	Abnormal forebrain morphology	267010	RNU12	ORPHA:512260
HP:0100547	Abnormal forebrain morphology	27183	VPS4A	OMIM:619273
HP:0100547	Abnormal forebrain morphology	9488	PIGB	OMIM:618580
HP:0100547	Abnormal forebrain morphology	8450	CUL4B	OMIM:300354
HP:0100547	Abnormal forebrain morphology	1281	COL3A1	OMIM:618343
HP:0100547	Abnormal forebrain morphology	894	CCND2	ORPHA:83473
HP:0100547	Abnormal forebrain morphology	894	CCND2	OMIM:615938
HP:0100547	Abnormal forebrain morphology	5296	PIK3R2	ORPHA:83473
HP:0100547	Abnormal forebrain morphology	5296	PIK3R2	OMIM:603387
HP:0100547	Abnormal forebrain morphology	26128	KIFBP	OMIM:609460
HP:0100547	Abnormal forebrain morphology	50814	NSDHL	ORPHA:251383
HP:0100547	Abnormal forebrain morphology	50814	NSDHL	OMIM:300831
HP:0100547	Abnormal forebrain morphology	2782	GNB1	ORPHA:488613
HP:0100547	Abnormal forebrain morphology	2782	GNB1	OMIM:616973
HP:0100547	Abnormal forebrain morphology	54931	TRMT10C	OMIM:616974
HP:0100547	Abnormal forebrain morphology	79644	SRD5A3	OMIM:612379
HP:0100547	Abnormal forebrain morphology	55780	ERMARD	ORPHA:75857
HP:0100547	Abnormal forebrain morphology	4131	MAP1B	OMIM:618918
HP:0100547	Abnormal forebrain morphology	11274	USP18	OMIM:617397
HP:0100547	Abnormal forebrain morphology	8131	NPRL3	ORPHA:98820
HP:0100547	Abnormal forebrain morphology	10641	NPRL2	ORPHA:98820
HP:0100547	Abnormal forebrain morphology	9681	DEPDC5	ORPHA:98820
HP:0100547	Abnormal forebrain morphology	80311	KLHL15	OMIM:300982
HP:0100547	Abnormal forebrain morphology	4330	MN1	OMIM:618774
HP:0100547	Abnormal forebrain morphology	23327	NEDD4L	OMIM:617201
HP:0100547	Abnormal forebrain morphology	112858	TP53RK	OMIM:617730
HP:0100547	Abnormal forebrain morphology	8270	LAGE3	OMIM:301006
HP:0100547	Abnormal forebrain morphology	23545	ATP6V0A2	OMIM:219200
HP:0100547	Abnormal forebrain morphology	23545	ATP6V0A2	ORPHA:357074
HP:0100547	Abnormal forebrain morphology	80781	COL18A1	OMIM:267750
HP:0100547	Abnormal forebrain morphology	2222	FDFT1	OMIM:618156
HP:0100547	Abnormal forebrain morphology	3800	KIF5C	OMIM:615282
HP:0100547	Abnormal forebrain morphology	79143	MBOAT7	OMIM:617188
HP:0100547	Abnormal forebrain morphology	10319	LAMC3	OMIM:614115
HP:0100547	Abnormal forebrain morphology	55670	PEX26	OMIM:614872
HP:0100547	Abnormal forebrain morphology	55670	PEX26	ORPHA:912
HP:0100547	Abnormal forebrain morphology	55704	CCDC88A	OMIM:617507
HP:0100547	Abnormal forebrain morphology	7284	TUFM	OMIM:610678
HP:0100547	Abnormal forebrain morphology	4123	MAN2C1	OMIM:619775
HP:0100547	Abnormal forebrain morphology	529	ATP6V1E1	ORPHA:357074
HP:0100547	Abnormal forebrain morphology	5879	RAC1	OMIM:617751
HP:0100547	Abnormal forebrain morphology	5879	RAC1	ORPHA:500159
HP:0100547	Abnormal forebrain morphology	200205	IBA57	OMIM:615330
HP:0100547	Abnormal forebrain morphology	5194	PEX13	OMIM:614883
HP:0100547	Abnormal forebrain morphology	5194	PEX13	ORPHA:912
HP:0100547	Abnormal forebrain morphology	23219	FBXO28	OMIM:619777
HP:0100547	Abnormal forebrain morphology	5195	PEX14	OMIM:614887
HP:0100547	Abnormal forebrain morphology	5195	PEX14	ORPHA:912
HP:0100547	Abnormal forebrain morphology	51075	TMX2	OMIM:618730
HP:0100547	Abnormal forebrain morphology	8884	SLC5A6	OMIM:618973
HP:0100547	Abnormal forebrain morphology	57647	DHX37	OMIM:618731
HP:0100547	Abnormal forebrain morphology	10243	GPHN	OMIM:615501
HP:0100547	Abnormal forebrain morphology	5824	PEX19	ORPHA:912
HP:0100547	Abnormal forebrain morphology	8504	PEX3	ORPHA:912
HP:0100547	Abnormal forebrain morphology	8799	PEX11B	ORPHA:912
HP:0100547	Abnormal forebrain morphology	5190	PEX6	ORPHA:912
HP:0100547	Abnormal forebrain morphology	5830	PEX5	ORPHA:912
HP:0100547	Abnormal forebrain morphology	5193	PEX12	ORPHA:912
HP:0100547	Abnormal forebrain morphology	5192	PEX10	ORPHA:912
HP:0100547	Abnormal forebrain morphology	7490	WT1	OMIM:106210
HP:0100547	Abnormal forebrain morphology	5080	PAX6	OMIM:106210
HP:0100547	Abnormal forebrain morphology	168667	BMPER	OMIM:608022
HP:0100547	Abnormal forebrain morphology	79709	COLGALT1	OMIM:618360
HP:0100547	Abnormal forebrain morphology	6628	SNRPB	ORPHA:1393
HP:0100547	Abnormal forebrain morphology	6628	SNRPB	OMIM:117650
HP:0100547	Abnormal forebrain morphology	1284	COL4A2	OMIM:614483
HP:0100547	Abnormal forebrain morphology	8985	PLOD3	OMIM:612394
HP:0100547	Abnormal forebrain morphology	4893	NRAS	ORPHA:2612
HP:0100547	Abnormal forebrain morphology	2639	GCDH	ORPHA:25
HP:0100547	Abnormal forebrain morphology	7084	TK2	OMIM:609560
HP:0100547	Abnormal forebrain morphology	170825	GSX2	OMIM:618646
HP:0100547	Abnormal forebrain morphology	80704	SLC19A3	OMIM:607483
HP:0100547	Abnormal forebrain morphology	80704	SLC19A3	ORPHA:263410
HP:0100547	Abnormal forebrain morphology	81570	CLPB	ORPHA:445038
HP:0100547	Abnormal forebrain morphology	2512	FTL	ORPHA:157846
HP:0100547	Abnormal forebrain morphology	549	AUH	ORPHA:67046
HP:0100547	Abnormal forebrain morphology	8803	SUCLA2	OMIM:612073
HP:0100547	Abnormal forebrain morphology	9131	AIFM1	OMIM:300816
HP:0100547	Abnormal forebrain morphology	93986	FOXP2	OMIM:602081
HP:0100547	Abnormal forebrain morphology	113612	CYP2U1	OMIM:615030
HP:0100547	Abnormal forebrain morphology	58494	JAM2	OMIM:618824
HP:0100547	Abnormal forebrain morphology	1161	ERCC8	ORPHA:90324
HP:0100547	Abnormal forebrain morphology	1161	ERCC8	ORPHA:90321
HP:0100547	Abnormal forebrain morphology	1161	ERCC8	OMIM:216400
HP:0100547	Abnormal forebrain morphology	9636	ISG15	OMIM:616126
HP:0100547	Abnormal forebrain morphology	2767	GNA11	OMIM:615361
HP:0100547	Abnormal forebrain morphology	9213	XPR1	OMIM:616413
HP:0100547	Abnormal forebrain morphology	2625	GATA3	OMIM:146255
HP:0100547	Abnormal forebrain morphology	5159	PDGFRB	OMIM:615007
HP:0100547	Abnormal forebrain morphology	5159	PDGFRB	OMIM:213600
HP:0100547	Abnormal forebrain morphology	57462	MYORG	OMIM:618317
HP:0100547	Abnormal forebrain morphology	760	CA2	OMIM:259730
HP:0100547	Abnormal forebrain morphology	760	CA2	ORPHA:2785
HP:0100547	Abnormal forebrain morphology	10059	DNM1L	ORPHA:98673
HP:0100547	Abnormal forebrain morphology	90	ACVR1	OMIM:135100
HP:0100547	Abnormal forebrain morphology	2778	GNAS	OMIM:612462
HP:0100547	Abnormal forebrain morphology	2778	GNAS	ORPHA:79443
HP:0100547	Abnormal forebrain morphology	2778	GNAS	ORPHA:79444
HP:0100547	Abnormal forebrain morphology	2778	GNAS	OMIM:103580
HP:0100547	Abnormal forebrain morphology	727676	SNORD118	ORPHA:542310
HP:0100547	Abnormal forebrain morphology	6575	SLC20A2	OMIM:213600
HP:0100547	Abnormal forebrain morphology	63901	FAM111A	OMIM:127000
HP:0100547	Abnormal forebrain morphology	63901	FAM111A	ORPHA:93325
HP:0100547	Abnormal forebrain morphology	116442	RAB39B	OMIM:311510
HP:0100547	Abnormal forebrain morphology	56984	PSMG2	OMIM:619183
HP:0100547	Abnormal forebrain morphology	846	CASR	OMIM:601198
HP:0100547	Abnormal forebrain morphology	113235	SLC46A1	OMIM:229050
HP:0100547	Abnormal forebrain morphology	5696	PSMB8	OMIM:256040
HP:0100547	Abnormal forebrain morphology	2697	GJA1	OMIM:164200
HP:0100547	Abnormal forebrain morphology	9896	FIG4	OMIM:216340
HP:0100547	Abnormal forebrain morphology	9896	FIG4	ORPHA:3472
HP:0100547	Abnormal forebrain morphology	55697	VAC14	ORPHA:3472
HP:0100547	Abnormal forebrain morphology	65250	CPLANE1	OMIM:277170
HP:0100547	Abnormal forebrain morphology	219844	HYLS1	ORPHA:2189
HP:0100547	Abnormal forebrain morphology	219844	HYLS1	OMIM:236680
HP:0100547	Abnormal forebrain morphology	374654	KIF7	ORPHA:2189
HP:0100547	Abnormal forebrain morphology	55636	CHD7	OMIM:214800
HP:0100547	Abnormal forebrain morphology	26123	TCTN3	OMIM:614815
HP:0100547	Abnormal forebrain morphology	10535	RNASEH2A	ORPHA:51
HP:0100547	Abnormal forebrain morphology	84153	RNASEH2C	ORPHA:51
HP:0100547	Abnormal forebrain morphology	25939	SAMHD1	ORPHA:51
HP:0100547	Abnormal forebrain morphology	79621	RNASEH2B	ORPHA:51
HP:0100547	Abnormal forebrain morphology	103	ADAR	ORPHA:51
HP:0100547	Abnormal forebrain morphology	11277	TREX1	ORPHA:51
HP:0100547	Abnormal forebrain morphology	134353	LSM11	ORPHA:51
HP:0100547	Abnormal forebrain morphology	64135	IFIH1	ORPHA:51
HP:0100547	Abnormal forebrain morphology	1312	COMT	ORPHA:567
HP:0100547	Abnormal forebrain morphology	221037	JMJD1C	ORPHA:567
HP:0100547	Abnormal forebrain morphology	2812	GP1BB	ORPHA:567
HP:0100547	Abnormal forebrain morphology	6239	RREB1	ORPHA:567
HP:0100547	Abnormal forebrain morphology	6899	TBX1	ORPHA:567
HP:0100547	Abnormal forebrain morphology	7290	HIRA	ORPHA:567
HP:0100547	Abnormal forebrain morphology	9632	SEC24C	ORPHA:567
HP:0100547	Abnormal forebrain morphology	7353	UFD1	ORPHA:567
HP:0100547	Abnormal forebrain morphology	421	ARVCF	ORPHA:567
HP:0100547	Abnormal forebrain morphology	81839	VANGL1	ORPHA:3027
HP:0100547	Abnormal forebrain morphology	80199	FUZ	ORPHA:3027
HP:0100547	Abnormal forebrain morphology	2187	FANCB	ORPHA:3412
HP:0100547	Abnormal forebrain morphology	526	ATP6V1B2	ORPHA:79500
HP:0100547	Abnormal forebrain morphology	57465	TBC1D24	ORPHA:79500
HP:0100547	Abnormal forebrain morphology	10262	SF3B4	ORPHA:1788
HP:0100547	Abnormal forebrain morphology	64093	SMOC1	ORPHA:1106
HP:0100547	Abnormal forebrain morphology	94	ACVRL1	OMIM:600376
HP:0100547	Abnormal forebrain morphology	4854	NOTCH3	ORPHA:136
HP:0100547	Abnormal forebrain morphology	51816	ADA2	OMIM:182410
HP:0100547	Abnormal forebrain morphology	2022	ENG	OMIM:187300
HP:0100547	Abnormal forebrain morphology	81031	SLC2A10	OMIM:208050
HP:0100547	Abnormal forebrain morphology	2982	GUCY1A1	OMIM:615750
HP:0100547	Abnormal forebrain morphology	3717	JAK2	OMIM:614521
HP:0100547	Abnormal forebrain morphology	50485	SMARCAL1	ORPHA:1830
HP:0100547	Abnormal forebrain morphology	6331	SCN5A	ORPHA:1344
HP:0100547	Abnormal forebrain morphology	4878	NPPA	ORPHA:1344
HP:0100547	Abnormal forebrain morphology	2783	GNB2	OMIM:619503
HP:0100547	Abnormal forebrain morphology	79184	BRCC3	ORPHA:280679
HP:0100547	Abnormal forebrain morphology	1282	COL4A1	OMIM:175780
HP:0100547	Abnormal forebrain morphology	4629	MYH11	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	7046	TGFBR1	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	7048	TGFBR2	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4015	LOX	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4087	SMAD2	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	7043	TGFB3	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4088	SMAD3	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	7042	TGFB2	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4089	SMAD4	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	2200	FBN1	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	59	ACTA2	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	5592	PRKG1	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	2301	FOXE3	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4144	MAT2A	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	23493	HEY2	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	8076	MFAP5	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	4638	MYLK	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	2006	ELN	ORPHA:91387
HP:0100547	Abnormal forebrain morphology	55739	NAXD	OMIM:618321
HP:0100547	Abnormal forebrain morphology	51241	COX16	OMIM:619355
HP:0100547	Abnormal forebrain morphology	34	ACADM	OMIM:201450
HP:0100547	Abnormal forebrain morphology	1629	DBT	OMIM:248600
HP:0100547	Abnormal forebrain morphology	593	BCKDHA	OMIM:248600
HP:0100547	Abnormal forebrain morphology	594	BCKDHB	OMIM:248600
HP:0100547	Abnormal forebrain morphology	5009	OTC	OMIM:311250
HP:0100547	Abnormal forebrain morphology	10165	SLC25A13	ORPHA:247585
HP:0100547	Abnormal forebrain morphology	10165	SLC25A13	OMIM:603471
HP:0100547	Abnormal forebrain morphology	435	ASL	OMIM:207900
HP:0100547	Abnormal forebrain morphology	708	C1QBP	OMIM:617713
HP:0100547	Abnormal forebrain morphology	445	ASS1	OMIM:215700
HP:0100547	Abnormal forebrain morphology	112476	PRRT2	ORPHA:569
HP:0100547	Abnormal forebrain morphology	28976	ACAD9	OMIM:611126
HP:0100547	Abnormal forebrain morphology	28976	ACAD9	ORPHA:99901
HP:0100547	Abnormal forebrain morphology	1373	CPS1	OMIM:237300
HP:0100547	Abnormal forebrain morphology	7187	TRAF3	ORPHA:1930
HP:0100547	Abnormal forebrain morphology	81622	UNC93B1	ORPHA:1930
HP:0100547	Abnormal forebrain morphology	148022	TICAM1	ORPHA:1930
HP:0100547	Abnormal forebrain morphology	7098	TLR3	ORPHA:1930
HP:0100547	Abnormal forebrain morphology	10577	NPC2	OMIM:607625
HP:0100547	Abnormal forebrain morphology	9445	ITM2B	OMIM:117300
HP:0100547	Abnormal forebrain morphology	1540	CYLD	OMIM:619132
HP:0100547	Abnormal forebrain morphology	4353	MPO	OMIM:104300
HP:0100547	Abnormal forebrain morphology	4846	NOS3	OMIM:104300
HP:0100547	Abnormal forebrain morphology	3077	HFE	OMIM:104300
HP:0100547	Abnormal forebrain morphology	5328	PLAU	OMIM:104300
HP:0100547	Abnormal forebrain morphology	4864	NPC1	OMIM:257220
HP:0100547	Abnormal forebrain morphology	81788	NUAK2	OMIM:619452
HP:0100547	Abnormal forebrain morphology	6347	CCL2	OMIM:182940
HP:0100547	Abnormal forebrain morphology	6862	TBXT	OMIM:182940
HP:0100547	Abnormal forebrain morphology	3239	HOXD13	ORPHA:887
HP:0100547	Abnormal forebrain morphology	55521	TRIM36	OMIM:206500
HP:0100547	Abnormal forebrain morphology	124997	WDR81	OMIM:617967
HP:0100547	Abnormal forebrain morphology	6913	TBX15	OMIM:260660
HP:0100547	Abnormal forebrain morphology	55165	CEP55	OMIM:236500
HP:0100547	Abnormal forebrain morphology	1678	TIMM8A	ORPHA:52368
HP:0100547	Abnormal forebrain morphology	3064	HTT	ORPHA:399
HP:0100547	Abnormal forebrain morphology	3064	HTT	OMIM:617435
HP:0100547	Abnormal forebrain morphology	6515	SLC2A3	ORPHA:399
HP:0100547	Abnormal forebrain morphology	26580	BSCL2	ORPHA:363400
HP:0100547	Abnormal forebrain morphology	4750	NEK1	OMIM:617892
HP:0100547	Abnormal forebrain morphology	4983	OPHN1	ORPHA:137831
HP:0100547	Abnormal forebrain morphology	3155	HMGCL	ORPHA:20
HP:0100547	Abnormal forebrain morphology	51103	NDUFAF1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	91942	NDUFAF2	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	91942	NDUFAF2	OMIM:618233
HP:0100547	Abnormal forebrain morphology	51300	TIMMDC1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4716	NDUFB10	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4723	NDUFV1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	55572	FOXRED1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	284184	NDUFAF8	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	55863	TMEM126B	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4537	MT-ND3	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4729	NDUFV2	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4694	NDUFA1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4724	NDUFS4	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4724	NDUFS4	OMIM:252010
HP:0100547	Abnormal forebrain morphology	4726	NDUFS6	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4728	NDUFS8	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4722	NDUFS3	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	126328	NDUFA11	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4709	NDUFB3	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	80224	NUBPL	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	80224	NUBPL	OMIM:618242
HP:0100547	Abnormal forebrain morphology	29078	NDUFAF4	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	374291	NDUFS7	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4700	NDUFA6	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4536	MT-ND2	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4719	NDUFS1	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	4719	NDUFS1	OMIM:618226
HP:0100547	Abnormal forebrain morphology	4715	NDUFB9	ORPHA:2609
HP:0100547	Abnormal forebrain morphology	65260	COA7	OMIM:618387
HP:0100547	Abnormal forebrain morphology	4570	MT-TN	OMIM:220110
HP:0100547	Abnormal forebrain morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0100547	Abnormal forebrain morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0100547	Abnormal forebrain morphology	1890	TYMP	OMIM:603041
HP:0100547	Abnormal forebrain morphology	1890	TYMP	ORPHA:298
HP:0100547	Abnormal forebrain morphology	22934	RPIA	OMIM:608611
HP:0100547	Abnormal forebrain morphology	56945	MRPS22	OMIM:611719
HP:0100547	Abnormal forebrain morphology	128240	NAXE	OMIM:617186
HP:0100547	Abnormal forebrain morphology	1615	DARS1	OMIM:615281
HP:0100547	Abnormal forebrain morphology	644096	SDHAF1	OMIM:619166
HP:0100547	Abnormal forebrain morphology	4780	NFE2L2	OMIM:617744
HP:0100547	Abnormal forebrain morphology	10730	YME1L1	OMIM:617302
HP:0100547	Abnormal forebrain morphology	54982	CLN6	OMIM:204300
HP:0100547	Abnormal forebrain morphology	1181	CLCN2	OMIM:615651
HP:0100547	Abnormal forebrain morphology	9512	PMPCB	OMIM:617954
HP:0100547	Abnormal forebrain morphology	10352	WARS2	OMIM:617710
HP:0100547	Abnormal forebrain morphology	10352	WARS2	ORPHA:572798
HP:0100547	Abnormal forebrain morphology	1967	EIF2B1	OMIM:603896
HP:0100547	Abnormal forebrain morphology	64802	NMNAT1	OMIM:619260
HP:0100547	Abnormal forebrain morphology	27247	NFU1	OMIM:605711
HP:0100547	Abnormal forebrain morphology	3735	KARS1	OMIM:619147
HP:0100547	Abnormal forebrain morphology	80169	CTC1	OMIM:612199
HP:0100547	Abnormal forebrain morphology	55157	DARS2	OMIM:611105
HP:0100547	Abnormal forebrain morphology	6342	SCP2	OMIM:613724
HP:0100547	Abnormal forebrain morphology	2615	LRRC32	OMIM:619074
HP:0100547	Abnormal forebrain morphology	54941	RNF125	OMIM:616260
HP:0100547	Abnormal forebrain morphology	64324	NSD1	OMIM:117550
HP:0100547	Abnormal forebrain morphology	64324	NSD1	ORPHA:821
HP:0100547	Abnormal forebrain morphology	4593	MUSK	OMIM:208150
HP:0100547	Abnormal forebrain morphology	347733	TUBB2B	ORPHA:300573
HP:0100547	Abnormal forebrain morphology	5528	PPP2R5D	ORPHA:457279
HP:0100547	Abnormal forebrain morphology	8815	BANF1	OMIM:614008
HP:0100547	Abnormal forebrain morphology	81857	MED25	ORPHA:464738
HP:0100547	Abnormal forebrain morphology	81857	MED25	OMIM:616449
HP:0100547	Abnormal forebrain morphology	3703	STT3A	OMIM:619714
HP:0100547	Abnormal forebrain morphology	5048	PAFAH1B1	ORPHA:95232
HP:0100547	Abnormal forebrain morphology	9939	RBM8A	OMIM:274000
HP:0100547	Abnormal forebrain morphology	7080	NKX2-1	ORPHA:209905
HP:0100547	Abnormal forebrain morphology	79087	ALG12	ORPHA:79324
HP:0100547	Abnormal forebrain morphology	29072	SETD2	ORPHA:821
HP:0100547	Abnormal forebrain morphology	10297	APC2	ORPHA:821
HP:0100547	Abnormal forebrain morphology	7703	PCGF2	OMIM:618371
HP:0100547	Abnormal forebrain morphology	129285	PPP1R21	OMIM:619383
HP:0100547	Abnormal forebrain morphology	5290	PIK3CA	OMIM:602501
HP:0100547	Abnormal forebrain morphology	55181	SMG8	OMIM:619268
HP:0100547	Abnormal forebrain morphology	5594	MAPK1	OMIM:619087
HP:0100547	Abnormal forebrain morphology	8550	MAPKAPK5	OMIM:619869
HP:0100547	Abnormal forebrain morphology	55969	RAB5IF	OMIM:616994
HP:0100547	Abnormal forebrain morphology	55690	PACS1	ORPHA:329224
HP:0100547	Abnormal forebrain morphology	55690	PACS1	OMIM:615009
HP:0100547	Abnormal forebrain morphology	4286	MITF	OMIM:617306
HP:0100547	Abnormal forebrain morphology	53834	FGFRL1	OMIM:194190
HP:0100547	Abnormal forebrain morphology	1487	CTBP1	OMIM:194190
HP:0100547	Abnormal forebrain morphology	3954	LETM1	OMIM:194190
HP:0100547	Abnormal forebrain morphology	7468	NSD2	OMIM:194190
HP:0100547	Abnormal forebrain morphology	10815	CPLX1	OMIM:194190
HP:0100547	Abnormal forebrain morphology	57688	ZSWIM6	OMIM:603671
HP:0100547	Abnormal forebrain morphology	64601	VPS16	OMIM:619291
HP:0100547	Abnormal forebrain morphology	7074	TIAM1	OMIM:619908
HP:0100547	Abnormal forebrain morphology	3785	KCNQ2	ORPHA:439218
HP:0100547	Abnormal forebrain morphology	4594	MMUT	OMIM:251000
HP:0100547	Abnormal forebrain morphology	11152	WDR45	OMIM:300894
HP:0100547	Abnormal forebrain morphology	83636	C19orf12	OMIM:614298
HP:0100547	Abnormal forebrain morphology	318	NUDT2	OMIM:619844
HP:0100547	Abnormal forebrain morphology	8398	PLA2G6	ORPHA:35069
HP:0100547	Abnormal forebrain morphology	1737	DLAT	ORPHA:79244
HP:0100547	Abnormal forebrain morphology	1786	DNMT1	ORPHA:314404
HP:0100547	Abnormal forebrain morphology	5551	PRF1	ORPHA:540
HP:0100547	Abnormal forebrain morphology	8676	STX11	ORPHA:540
HP:0100547	Abnormal forebrain morphology	201294	UNC13D	ORPHA:540
HP:0100547	Abnormal forebrain morphology	6813	STXBP2	ORPHA:540
HP:0100547	Abnormal forebrain morphology	51601	LIPT1	OMIM:616299
HP:0100547	Abnormal forebrain morphology	29967	LRP12	OMIM:164310
HP:0100547	Abnormal forebrain morphology	2632	GBE1	OMIM:263570
HP:0100547	Abnormal forebrain morphology	8789	FBP2	OMIM:619864
HP:0100547	Abnormal forebrain morphology	2705	GJB1	OMIM:302800
HP:0100547	Abnormal forebrain morphology	64849	SLC13A3	OMIM:618384
HP:0100547	Abnormal forebrain morphology	57459	GATAD2B	ORPHA:363686
HP:0100547	Abnormal forebrain morphology	6182	MRPL12	OMIM:618951
HP:0100547	Abnormal forebrain morphology	9101	USP8	ORPHA:401795
HP:0100547	Abnormal forebrain morphology	51	ACOX1	OMIM:618960
HP:0100547	Abnormal forebrain morphology	57731	SPTBN4	OMIM:617519
HP:0100547	Abnormal forebrain morphology	1807	DPYS	OMIM:222748
HP:0100547	Abnormal forebrain morphology	27235	COQ2	OMIM:607426
HP:0100547	Abnormal forebrain morphology	7384	UQCRC1	OMIM:619279
HP:0100547	Abnormal forebrain morphology	686	BTD	OMIM:253260
HP:0100547	Abnormal forebrain morphology	23203	PMPCA	ORPHA:1170
HP:0100547	Abnormal forebrain morphology	51473	DCDC2	ORPHA:84081
HP:0100547	Abnormal forebrain morphology	1497	CTNS	OMIM:219800
HP:0100547	Abnormal forebrain morphology	8671	SLC4A4	OMIM:604278
HP:0100547	Abnormal forebrain morphology	889	KRIT1	OMIM:116860
HP:0100547	Abnormal forebrain morphology	3394	IRF8	OMIM:226990
HP:0100547	Abnormal forebrain morphology	6773	STAT2	OMIM:618886
HP:0100547	Abnormal forebrain morphology	3117	HLA-DQA1	OMIM:212750
HP:0100547	Abnormal forebrain morphology	3119	HLA-DQB1	OMIM:212750
HP:0100547	Abnormal forebrain morphology	1280	COL2A1	ORPHA:85198
HP:0100547	Abnormal forebrain morphology	5167	ENPP1	ORPHA:51608
HP:0100547	Abnormal forebrain morphology	5167	ENPP1	ORPHA:758
HP:0100547	Abnormal forebrain morphology	368	ABCC6	ORPHA:51608
HP:0100547	Abnormal forebrain morphology	368	ABCC6	ORPHA:758
HP:0100547	Abnormal forebrain morphology	1836	SLC26A2	ORPHA:628
HP:0100547	Abnormal forebrain morphology	26137	ZBTB20	OMIM:259050
HP:0100547	Abnormal forebrain morphology	57169	ZNFX1	OMIM:619644
HP:0100547	Abnormal forebrain morphology	326	AIRE	ORPHA:3453
HP:0100547	Abnormal forebrain morphology	1893	ECM1	ORPHA:530
HP:0100547	Abnormal forebrain morphology	8643	PTCH2	ORPHA:377
HP:0100547	Abnormal forebrain morphology	4256	MGP	OMIM:245150
HP:0100547	Abnormal forebrain morphology	9365	KL	OMIM:617994
HP:0100547	Abnormal forebrain morphology	5741	PTH	OMIM:146200
HP:0100547	Abnormal forebrain morphology	10312	TCIRG1	ORPHA:1782
HP:0100547	Abnormal forebrain morphology	55315	SLC29A3	ORPHA:1782
HP:0100547	Abnormal forebrain morphology	8792	TNFRSF11A	ORPHA:1782
HP:0100547	Abnormal forebrain morphology	56160	NSMCE3	OMIM:617241
HP:0100547	Abnormal forebrain morphology	79650	USB1	ORPHA:1775
HP:0100547	Abnormal forebrain morphology	55135	WRAP53	ORPHA:1775
HP:0100547	Abnormal forebrain morphology	4869	NPM1	ORPHA:1775
HP:0100547	Abnormal forebrain morphology	7012	TERC	ORPHA:1775
HP:0100547	Abnormal forebrain morphology	1188	CLCNKB	ORPHA:358
HP:0100547	Abnormal forebrain morphology	6559	SLC12A3	ORPHA:358
HP:0100547	Abnormal forebrain morphology	51501	HIKESHI	OMIM:616881
HP:0100547	Abnormal forebrain morphology	79783	SUGCT	ORPHA:35706
HP:0100547	Abnormal forebrain morphology	54344	DPM3	OMIM:618992
HP:0100547	Abnormal forebrain morphology	122961	ISCA2	OMIM:616370
HP:0100547	Abnormal forebrain morphology	284217	LAMA1	OMIM:615960
HP:0100547	Abnormal forebrain morphology	7317	UBA1	ORPHA:1145
HP:0100547	Abnormal forebrain morphology	8560	DEGS1	OMIM:618404
HP:0100547	Abnormal forebrain morphology	54	ACP5	ORPHA:1855
HP:0100547	Abnormal forebrain morphology	8239	USP9X	ORPHA:480880
HP:0100547	Abnormal forebrain morphology	8239	USP9X	OMIM:300968
HP:0100547	Abnormal forebrain morphology	51008	ASCC1	OMIM:616867
HP:0100547	Abnormal forebrain morphology	80144	FRAS1	OMIM:219000
HP:0100547	Abnormal forebrain morphology	57511	COG6	OMIM:614576
HP:0100547	Abnormal forebrain morphology	79718	TBL1XR1	ORPHA:487825
HP:0100547	Abnormal forebrain morphology	137492	VPS37A	ORPHA:319199
HP:0100547	Abnormal forebrain morphology	535	ATP6V0A1	OMIM:619971
HP:0100547	Abnormal forebrain morphology	7355	SLC35A2	ORPHA:356961
HP:0100547	Abnormal forebrain morphology	3458	IFNG	ORPHA:805
HP:0100547	Abnormal forebrain morphology	1654	DDX3X	ORPHA:457260
HP:0100547	Abnormal forebrain morphology	112755	STX1B	ORPHA:36387
HP:0100547	Abnormal forebrain morphology	79625	NDNF	OMIM:618841
HP:0100547	Abnormal forebrain morphology	79625	NDNF	ORPHA:478
HP:0100547	Abnormal forebrain morphology	81848	SPRY4	ORPHA:478
HP:0100547	Abnormal forebrain morphology	23767	FLRT3	ORPHA:478
HP:0100547	Abnormal forebrain morphology	389549	FEZF1	ORPHA:478
HP:0100547	Abnormal forebrain morphology	54756	IL17RD	ORPHA:478
HP:0100547	Abnormal forebrain morphology	285025	CCDC141	ORPHA:478
HP:0100547	Abnormal forebrain morphology	60675	PROK2	ORPHA:478
HP:0100547	Abnormal forebrain morphology	1848	DUSP6	ORPHA:478
HP:0100547	Abnormal forebrain morphology	6870	TACR3	ORPHA:478
HP:0100547	Abnormal forebrain morphology	9394	HS6ST1	ORPHA:478
HP:0100547	Abnormal forebrain morphology	8822	FGF17	ORPHA:478
HP:0100547	Abnormal forebrain morphology	57194	ATP10A	ORPHA:411515
HP:0100547	Abnormal forebrain morphology	4921	DDR2	OMIM:271665
HP:0100547	Abnormal forebrain morphology	9853	RUSC2	OMIM:617773
HP:0100547	Abnormal forebrain morphology	83700	JAM3	OMIM:613730
HP:0100547	Abnormal forebrain morphology	53616	ADAM22	OMIM:617933
HP:0100547	Abnormal forebrain morphology	6571	SLC18A2	ORPHA:352649
HP:0100547	Abnormal forebrain morphology	22854	NTNG1	ORPHA:3095
HP:0100547	Abnormal forebrain morphology	55610	VPS50	OMIM:619685
HP:0100547	Abnormal forebrain morphology	51506	UFC1	OMIM:618076
HP:0100547	Abnormal forebrain morphology	6392	SDHD	OMIM:619167
HP:0100547	Abnormal forebrain morphology	22796	COG2	OMIM:617395
HP:0100547	Abnormal forebrain morphology	22796	COG2	ORPHA:435934
HP:0100547	Abnormal forebrain morphology	5119	CHMP1A	OMIM:614961
HP:0100547	Abnormal forebrain morphology	55858	TMEM165	OMIM:614727
HP:0100547	Abnormal forebrain morphology	54675	CRLS1	OMIM:620167
HP:0100547	Abnormal forebrain morphology	8604	SLC25A12	OMIM:612949
HP:0100547	Abnormal forebrain morphology	10087	CERT1	OMIM:616351
HP:0100547	Abnormal forebrain morphology	22884	WDR37	OMIM:618652
HP:0100547	Abnormal forebrain morphology	2903	GRIN2A	ORPHA:289266
HP:0100547	Abnormal forebrain morphology	3188	HNRNPH2	OMIM:300986
HP:0100547	Abnormal forebrain morphology	11212	PLPBP	OMIM:617290
HP:0100547	Abnormal forebrain morphology	57468	SLC12A5	OMIM:616645
HP:0100547	Abnormal forebrain morphology	539	ATP5PO	OMIM:620359
HP:0100547	Abnormal forebrain morphology	125988	MICOS13	OMIM:618329
HP:0100547	Abnormal forebrain morphology	1719	DHFR	OMIM:613839
HP:0100547	Abnormal forebrain morphology	10079	ATP9A	OMIM:620242
HP:0100547	Abnormal forebrain morphology	51693	TRAPPC2L	OMIM:618331
HP:0100547	Abnormal forebrain morphology	57017	COQ9	OMIM:614654
HP:0100547	Abnormal forebrain morphology	27429	HTRA2	OMIM:617248
HP:0100547	Abnormal forebrain morphology	3329	HSPD1	OMIM:612233
HP:0100547	Abnormal forebrain morphology	4668	NAGA	OMIM:609242
HP:0100547	Abnormal forebrain morphology	23229	ARHGEF9	OMIM:300607
HP:0100547	Abnormal forebrain morphology	114803	MYSM1	ORPHA:508542
HP:0100547	Abnormal forebrain morphology	80347	COASY	OMIM:618266
HP:0100547	Abnormal forebrain morphology	54903	MKS1	OMIM:249000
HP:0100547	Abnormal forebrain morphology	476	ATP1A1	ORPHA:564178
HP:0100547	Abnormal forebrain morphology	55733	HHAT	ORPHA:1422
HP:0100547	Abnormal forebrain morphology	100151683	RNU4ATAC	OMIM:210710
HP:0100547	Abnormal forebrain morphology	9928	KIF14	OMIM:616258
HP:0100547	Abnormal forebrain morphology	56270	WDR45B	OMIM:617977
HP:0100547	Abnormal forebrain morphology	3295	HSD17B4	OMIM:261515
HP:0100547	Abnormal forebrain morphology	26227	PHGDH	ORPHA:79351
HP:0100547	Abnormal forebrain morphology	701	BUB1B	OMIM:257300
HP:0100547	Abnormal forebrain morphology	79989	IFT56	OMIM:619534
HP:0100547	Abnormal forebrain morphology	4208	MEF2C	ORPHA:228384
HP:0100547	Abnormal forebrain morphology	2892	GRIA3	OMIM:300699
HP:0100547	Abnormal forebrain morphology	3097	HIVEP2	OMIM:616977
HP:0100547	Abnormal forebrain morphology	220296	HEPACAM	OMIM:604004
HP:0100547	Abnormal forebrain morphology	23209	MLC1	OMIM:604004
HP:0100547	Abnormal forebrain morphology	1075	CTSC	OMIM:245000
HP:0100547	Abnormal forebrain morphology	80267	EDEM3	OMIM:619493
HP:0100547	Abnormal forebrain morphology	5091	PC	OMIM:266150
HP:0100547	Abnormal forebrain morphology	4718	NDUFC2	OMIM:619170
HP:0100547	Abnormal forebrain morphology	7874	USP7	ORPHA:500055
HP:0100547	Abnormal forebrain morphology	55621	TRMT1	OMIM:618302
HP:0100547	Abnormal forebrain morphology	79029	AFG2B	OMIM:619616
HP:0100547	Abnormal forebrain morphology	57479	PRR12	OMIM:619539
HP:0100547	Abnormal forebrain morphology	51002	TPRKB	OMIM:617731
HP:0100547	Abnormal forebrain morphology	57514	ARHGAP31	OMIM:100300
HP:0100547	Abnormal forebrain morphology	57514	ARHGAP31	ORPHA:974
HP:0100547	Abnormal forebrain morphology	4897	NRCAM	OMIM:619833
HP:0100547	Abnormal forebrain morphology	3098	HK1	OMIM:618547
HP:0100547	Abnormal forebrain morphology	23259	DDHD2	ORPHA:320380
HP:0100547	Abnormal forebrain morphology	26047	CNTNAP2	ORPHA:163681
HP:0100547	Abnormal forebrain morphology	2972	BRF1	ORPHA:444072
HP:0100547	Abnormal forebrain morphology	22880	MORC2	ORPHA:466768
HP:0100547	Abnormal forebrain morphology	375387	NRROS	OMIM:618875
HP:0100547	Abnormal forebrain morphology	200424	TET3	OMIM:618798
HP:0100547	Abnormal forebrain morphology	55753	OGDHL	OMIM:619701
HP:0100547	Abnormal forebrain morphology	4976	OPA1	OMIM:210000
HP:0100547	Abnormal forebrain morphology	3516	RBPJ	ORPHA:974
HP:0100547	Abnormal forebrain morphology	4851	NOTCH1	ORPHA:974
HP:0100547	Abnormal forebrain morphology	57572	DOCK6	ORPHA:974
HP:0100547	Abnormal forebrain morphology	285203	EOGT	ORPHA:974
HP:0100547	Abnormal forebrain morphology	54567	DLL4	ORPHA:974
HP:0100547	Abnormal forebrain morphology	57505	AARS2	OMIM:615889
HP:0100547	Abnormal forebrain morphology	9373	PLAA	OMIM:617527
HP:0100547	Abnormal forebrain morphology	84334	COA8	ORPHA:436271
HP:0100547	Abnormal forebrain morphology	3798	KIF5A	OMIM:617235
HP:0100547	Abnormal forebrain morphology	6389	SDHA	OMIM:252011
HP:0100547	Abnormal forebrain morphology	7846	TUBA1A	ORPHA:171680
HP:0100547	Abnormal forebrain morphology	4841	NONO	ORPHA:466791
HP:0100547	Abnormal forebrain morphology	4841	NONO	OMIM:300967
HP:0100547	Abnormal forebrain morphology	9791	PTDSS1	OMIM:151050
HP:0100547	Abnormal forebrain morphology	29899	GPSM2	OMIM:604213
HP:0100547	Abnormal forebrain morphology	4001	LMNB1	OMIM:619179
HP:0100547	Abnormal forebrain morphology	6651	SON	ORPHA:500150
HP:0100547	Abnormal forebrain morphology	6651	SON	OMIM:617140
HP:0100547	Abnormal forebrain morphology	9692	PRORP	OMIM:619737
HP:0100547	Abnormal forebrain morphology	4659	PPP1R12A	OMIM:618820
HP:0100547	Abnormal forebrain morphology	51807	TUBA8	ORPHA:250972
HP:0100547	Abnormal forebrain morphology	93627	TBCK	OMIM:616900
HP:0100547	Abnormal forebrain morphology	5361	PLXNA1	OMIM:619955
HP:0100547	Abnormal forebrain morphology	374969	SVBP	OMIM:618569
HP:0100547	Abnormal forebrain morphology	84081	NSRP1	OMIM:620001
HP:0100547	Abnormal forebrain morphology	124454	EARS2	OMIM:614924
HP:0100547	Abnormal forebrain morphology	83480	PUS3	ORPHA:488627
HP:0100547	Abnormal forebrain morphology	5286	PIK3C2A	ORPHA:557003
HP:0100547	Abnormal forebrain morphology	91647	ATPAF2	OMIM:604273
HP:0100547	Abnormal forebrain morphology	57192	MCOLN1	OMIM:252650
HP:0100547	Abnormal forebrain morphology	9786	KIAA0586	OMIM:616490
HP:0100547	Abnormal forebrain morphology	79228	THOC6	ORPHA:363444
HP:0100547	Abnormal forebrain morphology	23258	DENND5A	OMIM:617281
HP:0100547	Abnormal forebrain morphology	23309	SIN3B	ORPHA:500166
HP:0100547	Abnormal forebrain morphology	25942	SIN3A	ORPHA:500166
HP:0100547	Abnormal forebrain morphology	25942	SIN3A	OMIM:613406
HP:0100547	Abnormal forebrain morphology	10524	KAT5	OMIM:619103
HP:0100547	Abnormal forebrain morphology	205327	C2orf69	OMIM:619423
HP:0100547	Abnormal forebrain morphology	22978	NT5C2	OMIM:613162
HP:0100547	Abnormal forebrain morphology	5283	PIGH	OMIM:618010
HP:0100547	Abnormal forebrain morphology	23287	AGTPBP1	OMIM:618276
HP:0100547	Abnormal forebrain morphology	3313	HSPA9	OMIM:616854
HP:0100547	Abnormal forebrain morphology	283989	TSEN54	ORPHA:2524
HP:0100547	Abnormal forebrain morphology	116461	TSEN15	ORPHA:2524
HP:0100547	Abnormal forebrain morphology	79042	TSEN34	ORPHA:2524
HP:0100547	Abnormal forebrain morphology	80746	TSEN2	ORPHA:2524
HP:0100547	Abnormal forebrain morphology	51091	SEPSECS	ORPHA:2524
HP:0100547	Abnormal forebrain morphology	4953	ODC1	ORPHA:544488
HP:0100547	Abnormal forebrain morphology	25914	RTTN	OMIM:614833
HP:0100547	Abnormal forebrain morphology	55210	ATAD3A	OMIM:618810
HP:0100547	Abnormal forebrain morphology	1642	DDB1	OMIM:619426
HP:0100547	Abnormal forebrain morphology	79633	FAT4	ORPHA:314679
HP:0100547	Abnormal forebrain morphology	8642	DCHS1	ORPHA:314679
HP:0100547	Abnormal forebrain morphology	4713	NDUFB7	OMIM:620135
HP:0100547	Abnormal forebrain morphology	4358	MPV17	OMIM:256810
HP:0100547	Abnormal forebrain morphology	100147744	RNU7-1	OMIM:619487
HP:0100547	Abnormal forebrain morphology	3980	LIG3	OMIM:619780
HP:0100547	Abnormal forebrain morphology	8622	PDE8B	OMIM:609161
HP:0100547	Abnormal forebrain morphology	291	SLC25A4	ORPHA:254892
HP:0100547	Abnormal forebrain morphology	5428	POLG	ORPHA:254892
HP:0100547	Abnormal forebrain morphology	56652	TWNK	ORPHA:254892
HP:0100547	Abnormal forebrain morphology	11232	POLG2	ORPHA:254892
HP:0100547	Abnormal forebrain morphology	50484	RRM2B	ORPHA:254892
HP:0100547	Abnormal forebrain morphology	8635	RNASET2	OMIM:612951
HP:0100547	Abnormal forebrain morphology	23394	ADNP	ORPHA:404448
HP:0100547	Abnormal forebrain morphology	91574	MTRFR	ORPHA:320375
HP:0100547	Abnormal forebrain morphology	7248	TSC1	OMIM:607341
HP:0100547	Abnormal forebrain morphology	7249	TSC2	OMIM:607341
HP:0100547	Abnormal forebrain morphology	2475	MTOR	OMIM:607341
HP:0100547	Abnormal forebrain morphology	9839	ZEB2	ORPHA:261537
HP:0100547	Abnormal forebrain morphology	9839	ZEB2	ORPHA:261552
HP:0100547	Abnormal forebrain morphology	9839	ZEB2	OMIM:235730
HP:0100547	Abnormal forebrain morphology	545	ATR	OMIM:210600
HP:0100547	Abnormal forebrain morphology	728294	D2HGDH	OMIM:600721
HP:0100547	Abnormal forebrain morphology	51780	KDM3B	OMIM:618846
HP:0100547	Abnormal forebrain morphology	158	ADSL	ORPHA:46
HP:0100547	Abnormal forebrain morphology	7319	UBE2A	OMIM:300860
HP:0100547	Abnormal forebrain morphology	7319	UBE2A	ORPHA:163956
HP:0100547	Abnormal forebrain morphology	3908	LAMA2	OMIM:607855
HP:0100547	Abnormal forebrain morphology	135	ADORA2A	ORPHA:363549
HP:0100547	Abnormal forebrain morphology	2670	GFAP	ORPHA:363722
HP:0100547	Abnormal forebrain morphology	4952	OCRL	OMIM:309000
HP:0100547	Abnormal forebrain morphology	790955	UQCC3	OMIM:616111
HP:0100547	Abnormal forebrain morphology	2193	FARSA	OMIM:619013
HP:0100547	Abnormal forebrain morphology	7415	VCP	OMIM:167320
HP:0100547	Abnormal forebrain morphology	7415	VCP	ORPHA:100070
HP:0100547	Abnormal forebrain morphology	104	ADARB1	OMIM:618862
HP:0100547	Abnormal forebrain morphology	1528	CYB5A	ORPHA:621
HP:0100547	Abnormal forebrain morphology	1727	CYB5R3	ORPHA:621
HP:0100547	Abnormal forebrain morphology	9382	COG1	ORPHA:263508
HP:0100547	Abnormal forebrain morphology	54664	TMEM106B	ORPHA:100070
HP:0100547	Abnormal forebrain morphology	80025	PANK2	OMIM:607236
HP:0100547	Abnormal forebrain morphology	131118	DNAJC19	ORPHA:66634
HP:0100547	Abnormal forebrain morphology	1355	COX15	OMIM:615119
HP:0100547	Abnormal forebrain morphology	55967	NDUFA12	ORPHA:255241
HP:0100547	Abnormal forebrain morphology	51204	TACO1	ORPHA:255241
HP:0100547	Abnormal forebrain morphology	51204	TACO1	OMIM:619052
HP:0100547	Abnormal forebrain morphology	51079	NDUFA13	ORPHA:255241
HP:0100547	Abnormal forebrain morphology	4705	NDUFA10	ORPHA:255241
HP:0100547	Abnormal forebrain morphology	4697	NDUFA4	ORPHA:255241
HP:0100547	Abnormal forebrain morphology	4577	MT-TV	ORPHA:255210
HP:0100547	Abnormal forebrain morphology	4566	MT-TK	ORPHA:255210
HP:0100547	Abnormal forebrain morphology	57107	PDSS2	ORPHA:255249
HP:0100547	Abnormal forebrain morphology	57107	PDSS2	OMIM:614652
HP:0100547	Abnormal forebrain morphology	23435	TARDBP	ORPHA:275872
HP:0100547	Abnormal forebrain morphology	54453	RIN2	OMIM:613075
HP:0100547	Abnormal forebrain morphology	64857	PLEKHG2	OMIM:616763
HP:0100547	Abnormal forebrain morphology	55823	VPS11	ORPHA:466934
HP:0100547	Abnormal forebrain morphology	92609	TIMM50	ORPHA:505216
HP:0100547	Abnormal forebrain morphology	6792	CDKL5	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	3736	KCNA1	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	9091	PIGQ	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	2775	GNAO1	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	79751	SLC25A22	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	150094	SIK1	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	23312	DMXL2	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	2917	GRM7	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	51227	PIGP	ORPHA:1934
HP:0100547	Abnormal forebrain morphology	6513	SLC2A1	OMIM:608885
HP:0100547	Abnormal forebrain morphology	6513	SLC2A1	ORPHA:168577
HP:0100547	Abnormal forebrain morphology	4763	NF1	ORPHA:97685
HP:0100547	Abnormal forebrain morphology	3912	LAMB1	OMIM:615191
HP:0100547	Abnormal forebrain morphology	3912	LAMB1	ORPHA:352682
HP:0100547	Abnormal forebrain morphology	160418	TMTC3	OMIM:617255
HP:0100547	Abnormal forebrain morphology	1513	CTSK	ORPHA:763
HP:0100547	Abnormal forebrain morphology	9289	ADGRG1	OMIM:606854
HP:0100547	Abnormal forebrain morphology	9289	ADGRG1	ORPHA:101070
HP:0100547	Abnormal forebrain morphology	215	ABCD1	ORPHA:139399
HP:0100547	Abnormal forebrain morphology	5660	PSAP	OMIM:611722
HP:0100547	Abnormal forebrain morphology	6663	SOX10	OMIM:609136
HP:0100547	Abnormal forebrain morphology	5728	PTEN	ORPHA:101070
HP:0100547	Abnormal forebrain morphology	55777	MBD5	OMIM:156200
HP:0100547	Abnormal forebrain morphology	8813	DPM1	ORPHA:79322
HP:0100547	Abnormal forebrain morphology	79600	TCTN1	ORPHA:475
HP:0100547	Abnormal forebrain morphology	79600	TCTN1	ORPHA:564
HP:0100547	Abnormal forebrain morphology	91147	TMEM67	ORPHA:475
HP:0100547	Abnormal forebrain morphology	91147	TMEM67	ORPHA:564
HP:0100547	Abnormal forebrain morphology	91147	TMEM67	ORPHA:1454
HP:0100547	Abnormal forebrain morphology	200894	ARL13B	ORPHA:475
HP:0100547	Abnormal forebrain morphology	9731	CEP104	ORPHA:475
HP:0100547	Abnormal forebrain morphology	23247	KATNIP	ORPHA:475
HP:0100547	Abnormal forebrain morphology	219854	TMEM218	ORPHA:475
HP:0100547	Abnormal forebrain morphology	79867	TCTN2	ORPHA:475
HP:0100547	Abnormal forebrain morphology	79867	TCTN2	ORPHA:564
HP:0100547	Abnormal forebrain morphology	80776	B9D2	ORPHA:475
HP:0100547	Abnormal forebrain morphology	80776	B9D2	ORPHA:564
HP:0100547	Abnormal forebrain morphology	10464	PIBF1	ORPHA:475
HP:0100547	Abnormal forebrain morphology	23116	TOGARAM1	ORPHA:475
HP:0100547	Abnormal forebrain morphology	25776	CBY1	ORPHA:475
HP:0100547	Abnormal forebrain morphology	27077	B9D1	ORPHA:475
HP:0100547	Abnormal forebrain morphology	27077	B9D1	ORPHA:564
HP:0100547	Abnormal forebrain morphology	403	ARL3	ORPHA:475
HP:0100547	Abnormal forebrain morphology	3981	LIG4	ORPHA:235
HP:0100547	Abnormal forebrain morphology	54888	NSUN2	ORPHA:235
HP:0100547	Abnormal forebrain morphology	64327	LMBR1	ORPHA:2378
HP:0100547	Abnormal forebrain morphology	6925	TCF4	ORPHA:2896
HP:0100547	Abnormal forebrain morphology	154881	KCTD7	ORPHA:263516
HP:0100547	Abnormal forebrain morphology	51715	RAB23	OMIM:201000
HP:0100547	Abnormal forebrain morphology	84162	BLTP1	OMIM:617822
HP:0100547	Abnormal forebrain morphology	2314	FLII	ORPHA:819
HP:0100547	Abnormal forebrain morphology	23096	IQSEC2	ORPHA:819
HP:0100547	Abnormal forebrain morphology	10743	RAI1	ORPHA:819
HP:0100547	Abnormal forebrain morphology	10522	DEAF1	ORPHA:819
HP:0100547	Abnormal forebrain morphology	1717	DHCR7	ORPHA:818
HP:0100547	Abnormal forebrain morphology	51114	ZDHHC9	ORPHA:776
HP:0100547	Abnormal forebrain morphology	65109	UPF3B	ORPHA:776
HP:0100547	Abnormal forebrain morphology	10225	CD96	ORPHA:1308
HP:0100547	Abnormal forebrain morphology	79583	TMEM231	ORPHA:2318
HP:0100547	Abnormal forebrain morphology	79583	TMEM231	ORPHA:564
HP:0100547	Abnormal forebrain morphology	51524	TMEM138	ORPHA:2318
HP:0100547	Abnormal forebrain morphology	23090	ZNF423	ORPHA:2318
HP:0100547	Abnormal forebrain morphology	80184	CEP290	ORPHA:2318
HP:0100547	Abnormal forebrain morphology	80184	CEP290	ORPHA:564
HP:0100547	Abnormal forebrain morphology	10210	TOPORS	ORPHA:2754
HP:0100547	Abnormal forebrain morphology	5147	PDE6D	ORPHA:2754
HP:0100547	Abnormal forebrain morphology	317662	FAM149B1	ORPHA:2754
HP:0100547	Abnormal forebrain morphology	8260	NAA10	ORPHA:568
HP:0100547	Abnormal forebrain morphology	54880	BCOR	ORPHA:568
HP:0100547	Abnormal forebrain morphology	84314	TMEM107	ORPHA:564
HP:0100547	Abnormal forebrain morphology	57096	RPGRIP1	ORPHA:564
HP:0100547	Abnormal forebrain morphology	79770	TXNDC15	ORPHA:564
HP:0100547	Abnormal forebrain morphology	9184	BUB3	ORPHA:1052
HP:0100547	Abnormal forebrain morphology	9702	CEP57	ORPHA:1052
HP:0100547	Abnormal forebrain morphology	9319	TRIP13	ORPHA:1052
HP:0100547	Abnormal forebrain morphology	29980	DONSON	OMIM:251230
HP:0100547	Abnormal forebrain morphology	4099	MAG	OMIM:616680
HP:0100547	Abnormal forebrain morphology	64207	IRF2BPL	OMIM:618088
HP:0100547	Abnormal forebrain morphology	51728	POLR3K	OMIM:619310
HP:0100547	Abnormal forebrain morphology	10273	STUB1	ORPHA:412057
HP:0100547	Abnormal forebrain morphology	9255	AIMP1	OMIM:260600
HP:0100547	Abnormal forebrain morphology	51692	CPSF3	OMIM:619876
HP:0100547	Abnormal forebrain morphology	84188	FAR1	ORPHA:447753
HP:0100547	Abnormal forebrain morphology	27072	VPS41	OMIM:619389
HP:0100547	Abnormal forebrain morphology	23065	EMC1	OMIM:616875
HP:0100547	Abnormal forebrain morphology	23065	EMC1	ORPHA:480898
HP:0100547	Abnormal forebrain morphology	9409	PEX16	OMIM:614877
HP:0100547	Abnormal forebrain morphology	79944	L2HGDH	OMIM:236792
HP:0100547	Abnormal forebrain morphology	23636	NUP62	ORPHA:225154
HP:0100547	Abnormal forebrain morphology	6872	TAF1	OMIM:300966
HP:0100547	Abnormal forebrain morphology	3417	IDH1	ORPHA:99646
HP:0100547	Abnormal forebrain morphology	7200	TRH	OMIM:275120
HP:0100547	Abnormal forebrain morphology	8314	BAP1	ORPHA:2495
HP:0100547	Abnormal forebrain morphology	4771	NF2	ORPHA:2495
HP:0100547	Abnormal forebrain morphology	5155	PDGFB	ORPHA:2495
HP:0100547	Abnormal forebrain morphology	84231	TRAF7	ORPHA:2495
HP:0100547	Abnormal forebrain morphology	207	AKT1	ORPHA:2495
HP:0100547	Abnormal forebrain morphology	10128	LRPPRC	OMIM:220111
HP:0100547	Abnormal forebrain morphology	10617	STAMBP	OMIM:614261
HP:0100547	Abnormal forebrain morphology	55627	SMPD4	OMIM:618622
HP:0100547	Abnormal forebrain morphology	116115	ZNF526	OMIM:619877
HP:0100547	Abnormal forebrain morphology	8405	SPOP	OMIM:618828
HP:0100547	Abnormal forebrain morphology	1457	CSNK2A1	OMIM:617062
HP:0100547	Abnormal forebrain morphology	1062	CENPE	OMIM:616051
HP:0100547	Abnormal forebrain morphology	51124	IER3IP1	OMIM:614231
HP:0100547	Abnormal forebrain morphology	5859	QARS1	OMIM:615760
HP:0100547	Abnormal forebrain morphology	22983	MAST1	OMIM:618273
HP:0100547	Abnormal forebrain morphology	9442	MED27	OMIM:619286
HP:0100547	Abnormal forebrain morphology	10293	TRAIP	OMIM:616777
HP:0100547	Abnormal forebrain morphology	7280	TUBB2A	OMIM:615763
HP:0100547	Abnormal forebrain morphology	5591	PRKDC	OMIM:615966
HP:0100547	Abnormal forebrain morphology	79693	YRDC	OMIM:619609
HP:0100547	Abnormal forebrain morphology	7518	XRCC4	OMIM:616541
HP:0100547	Abnormal forebrain morphology	440	ASNS	OMIM:615574
HP:0100547	Abnormal forebrain morphology	7436	VLDLR	OMIM:224050
HP:0100547	Abnormal forebrain morphology	2744	GLS	OMIM:618328
HP:0100547	Abnormal forebrain morphology	10015	PDCD6IP	OMIM:620047
HP:0100547	Abnormal forebrain morphology	29968	PSAT1	ORPHA:284417
HP:0100547	Abnormal forebrain morphology	3832	KIF11	OMIM:152950
HP:0100547	Abnormal forebrain morphology	11284	PNKP	OMIM:613402
HP:0100547	Abnormal forebrain morphology	51053	GMNN	OMIM:616835
HP:0100547	Abnormal forebrain morphology	55644	OSGEP	OMIM:617729
HP:0100547	Abnormal forebrain morphology	7471	WNT1	OMIM:615220
HP:0100547	Abnormal forebrain morphology	5903	RANBP2	ORPHA:88619
HP:0100547	Abnormal forebrain morphology	55209	SETD5	ORPHA:404440
HP:0100547	Abnormal forebrain morphology	25915	NDUFAF3	ORPHA:70474
HP:0100547	Abnormal forebrain morphology	4714	NDUFB8	ORPHA:70474
HP:0100547	Abnormal forebrain morphology	4720	NDUFS2	ORPHA:70474
HP:0100547	Abnormal forebrain morphology	9997	SCO2	ORPHA:70474
HP:0100547	Abnormal forebrain morphology	6834	SURF1	ORPHA:70474
HP:0100547	Abnormal forebrain morphology	55770	EXOC2	OMIM:619306
HP:0100547	Abnormal forebrain morphology	1356	CP	ORPHA:48818
HP:0100547	Abnormal forebrain morphology	9918	NCAPD2	OMIM:617983
HP:0100547	Abnormal forebrain morphology	1984	EIF5A	OMIM:619376
HP:0100547	Abnormal forebrain morphology	6045	RNF2	OMIM:619460
HP:0100547	Abnormal forebrain morphology	79023	NUP37	OMIM:618179
HP:0100547	Abnormal forebrain morphology	4905	NSF	OMIM:619340
HP:0100547	Abnormal forebrain morphology	9181	ARHGEF2	OMIM:617523
HP:0100547	Abnormal forebrain morphology	5071	PRKN	OMIM:600116
HP:0100547	Abnormal forebrain morphology	4287	ATXN3	ORPHA:276238
HP:0100547	Abnormal forebrain morphology	4287	ATXN3	ORPHA:276244
HP:0100547	Abnormal forebrain morphology	4287	ATXN3	ORPHA:276241
HP:0100547	Abnormal forebrain morphology	2747	GLUD2	OMIM:168600
HP:0100547	Abnormal forebrain morphology	126	ADH1C	OMIM:168600
HP:0100547	Abnormal forebrain morphology	4137	MAPT	OMIM:168600
HP:0100547	Abnormal forebrain morphology	6908	TBP	OMIM:168600
HP:0100547	Abnormal forebrain morphology	4576	MT-TT	OMIM:168600
HP:0100547	Abnormal forebrain morphology	9627	SNCAIP	OMIM:168600
HP:0100547	Abnormal forebrain morphology	6315	ATXN8OS	OMIM:168600
HP:0100547	Abnormal forebrain morphology	25793	FBXO7	ORPHA:171695
HP:0100547	Abnormal forebrain morphology	3178	HNRNPA1	ORPHA:52430
HP:0100547	Abnormal forebrain morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0100547	Abnormal forebrain morphology	4692	NDN	ORPHA:177904
HP:0100547	Abnormal forebrain morphology	4692	NDN	ORPHA:177901
HP:0100547	Abnormal forebrain morphology	4692	NDN	ORPHA:98754
HP:0100547	Abnormal forebrain morphology	4948	OCA2	ORPHA:177904
HP:0100547	Abnormal forebrain morphology	4948	OCA2	ORPHA:177901
HP:0100547	Abnormal forebrain morphology	4948	OCA2	ORPHA:98754
HP:0100547	Abnormal forebrain morphology	26278	SACS	ORPHA:98
HP:0100547	Abnormal forebrain morphology	10430	TMEM147	OMIM:620075
HP:0100547	Abnormal forebrain morphology	85440	DOCK7	ORPHA:411986
HP:0100547	Abnormal forebrain morphology	137682	NDUFAF6	OMIM:618239
HP:0100547	Abnormal forebrain morphology	3975	LHX1	ORPHA:261265
HP:0100547	Abnormal forebrain morphology	23729	SHPK	ORPHA:440713
HP:0100547	Abnormal forebrain morphology	10195	ALG3	ORPHA:79321
HP:0100547	Abnormal forebrain morphology	91949	COG7	ORPHA:79333
HP:0100547	Abnormal forebrain morphology	3953	LEPR	OMIM:614963
HP:0100547	Abnormal forebrain morphology	1499	CTNNB1	ORPHA:54595
HP:0100547	Abnormal forebrain morphology	6492	SIM1	ORPHA:398079
HP:0100547	Abnormal forebrain morphology	54551	MAGEL2	ORPHA:398069
HP:0100547	Abnormal forebrain morphology	23028	KDM1A	ORPHA:477993
HP:0100547	Abnormal forebrain morphology	23028	KDM1A	OMIM:616728
HP:0100547	Abnormal forebrain morphology	10381	TUBB3	ORPHA:467166
HP:0100547	Abnormal forebrain morphology	1352	COX10	OMIM:619046
HP:0100547	Abnormal forebrain morphology	55037	PTCD3	OMIM:619057
HP:0100547	Abnormal forebrain morphology	9440	MED17	OMIM:613668
HP:0100547	Abnormal forebrain morphology	85365	ALG2	ORPHA:79326
HP:0100547	Abnormal forebrain morphology	23474	ETHE1	ORPHA:51188
HP:0100547	Abnormal forebrain morphology	2737	GLI3	ORPHA:672
HP:0100547	Abnormal forebrain morphology	10367	MICU1	ORPHA:401768
HP:0100547	Abnormal forebrain morphology	8802	SUCLG1	ORPHA:17
HP:0100547	Abnormal forebrain morphology	55532	SLC30A10	ORPHA:309854
HP:0100547	Abnormal forebrain morphology	443	ASPA	ORPHA:314918
HP:0100547	Abnormal forebrain morphology	56947	MFF	ORPHA:485421
HP:0100547	Abnormal forebrain morphology	133686	NADK2	ORPHA:431361
HP:0100547	Abnormal forebrain morphology	22868	FASTKD2	OMIM:618855
HP:0100547	Abnormal forebrain morphology	4508	MT-ATP6	ORPHA:644
HP:0100547	Abnormal forebrain morphology	84705	GTPBP3	ORPHA:444013
HP:0100547	Abnormal forebrain morphology	56997	COQ8A	ORPHA:139485
HP:0100547	Abnormal forebrain morphology	10398	MYL9	OMIM:619365
HP:0100547	Abnormal forebrain morphology	84668	HYCC1	OMIM:610532
HP:0100547	Abnormal forebrain morphology	5654	HTRA1	OMIM:616779
HP:0100547	Abnormal forebrain morphology	7025	NR2F1	ORPHA:401777
HP:0100547	Abnormal forebrain morphology	23499	MACF1	ORPHA:572013
HP:0100547	Abnormal forebrain morphology	387119	CEP85L	ORPHA:572013
HP:0100547	Abnormal forebrain morphology	6335	SCN9A	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	6326	SCN2A	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	2554	GABRA1	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	6323	SCN1A	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	6324	SCN1B	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	57526	PCDH19	ORPHA:33069
HP:0100547	Abnormal forebrain morphology	203068	TUBB	OMIM:615771
HP:0100547	Abnormal forebrain morphology	4522	MTHFD1	OMIM:617780
HP:0100547	Abnormal forebrain morphology	410	ARSA	ORPHA:309271
HP:0100547	Abnormal forebrain morphology	410	ARSA	ORPHA:309263
HP:0100547	Abnormal forebrain morphology	410	ARSA	ORPHA:309256
HP:0100547	Abnormal forebrain morphology	1267	CNP	OMIM:619071
HP:0100547	Abnormal forebrain morphology	2760	GM2A	ORPHA:309246
HP:0100547	Abnormal forebrain morphology	84504	NKX6-2	ORPHA:527497
HP:0100547	Abnormal forebrain morphology	23516	SLC39A14	OMIM:617013
HP:0100547	Abnormal forebrain morphology	23516	SLC39A14	ORPHA:521406
HP:0100547	Abnormal forebrain morphology	1593	CYP27A1	ORPHA:909
HP:0100547	Abnormal forebrain morphology	79853	TM4SF20	OMIM:615432
HP:0100547	Abnormal forebrain morphology	1822	ATN1	ORPHA:101
HP:0100547	Abnormal forebrain morphology	221496	LEMD2	OMIM:619322
HP:0100547	Abnormal forebrain morphology	5917	RARS1	ORPHA:438114
HP:0100547	Abnormal forebrain morphology	10000	AKT3	ORPHA:99802
HP:0100547	Abnormal forebrain morphology	8913	CACNA1G	ORPHA:458803
HP:0100547	Abnormal forebrain morphology	63899	NSUN3	OMIM:619012
HP:0100547	Abnormal forebrain morphology	6572	SLC18A3	OMIM:617239
HP:0100547	Abnormal forebrain morphology	815	CAMK2A	OMIM:617798
HP:0100547	Abnormal forebrain morphology	2055	CLN8	ORPHA:1947
HP:0100547	Abnormal forebrain morphology	6821	SUOX	OMIM:272300
HP:0100547	Abnormal forebrain morphology	9420	CYP7B1	OMIM:270800
HP:0100547	Abnormal forebrain morphology	191	AHCY	ORPHA:88618
HP:0100547	Abnormal forebrain morphology	6390	SDHB	OMIM:619224
HP:0100547	Abnormal forebrain morphology	9907	AP5Z1	ORPHA:306511
HP:0100547	Abnormal forebrain morphology	9907	AP5Z1	OMIM:613647
HP:0100547	Abnormal forebrain morphology	55154	MSTO1	ORPHA:502423
HP:0100547	Abnormal forebrain morphology	5297	PI4KA	OMIM:619708
HP:0100547	Abnormal forebrain morphology	51324	SPG21	OMIM:248900
HP:0100547	Abnormal forebrain morphology	84065	TMEM222	OMIM:619470
HP:0100547	Abnormal forebrain morphology	7555	CNBP	OMIM:602668
HP:0100547	Abnormal forebrain morphology	6134	RPL10	OMIM:300998
HP:0100547	Abnormal forebrain morphology	5058	PAK1	OMIM:618158
HP:0100547	Abnormal forebrain morphology	4761	NEUROD2	OMIM:618374
HP:0100547	Abnormal forebrain morphology	92335	STRADA	ORPHA:500533
HP:0100547	Abnormal forebrain morphology	7920	ABHD16A	OMIM:619735
HP:0100547	Abnormal forebrain morphology	85465	SELENOI	OMIM:618768
HP:0100547	Abnormal forebrain morphology	80036	TRPM3	OMIM:620224
HP:0100547	Abnormal forebrain morphology	10060	ABCC9	OMIM:619719
HP:0100547	Abnormal forebrain morphology	23503	ZFYVE26	ORPHA:100996
HP:0100547	Abnormal forebrain morphology	51102	MECR	ORPHA:508093
HP:0100547	Abnormal forebrain morphology	7283	TUBG1	OMIM:615412
HP:0100547	Abnormal forebrain morphology	3796	KIF2A	OMIM:615411
HP:0100547	Abnormal forebrain morphology	1778	DYNC1H1	OMIM:614563
HP:0100547	Abnormal forebrain morphology	2065	ERBB3	OMIM:243180
HP:0100547	Abnormal forebrain morphology	23446	SLC44A1	OMIM:618868
HP:0100547	Abnormal forebrain morphology	54676	GTPBP2	OMIM:617988
HP:0100547	Abnormal forebrain morphology	9757	KMT2B	ORPHA:589618
HP:0100547	Abnormal forebrain morphology	6900	CNTN2	OMIM:615400
HP:0100547	Abnormal forebrain morphology	57003	CCDC47	OMIM:618268
HP:0100547	Abnormal forebrain morphology	9759	HDAC4	OMIM:619797
HP:0100547	Abnormal forebrain morphology	7862	BRPF1	OMIM:617333
HP:0100547	Abnormal forebrain morphology	343450	KCNT2	OMIM:617771
HP:0100547	Abnormal forebrain morphology	23040	MYT1L	OMIM:616521
HP:0100547	Abnormal forebrain morphology	3839	KPNA3	OMIM:620106
HP:0100547	Abnormal forebrain morphology	4329	ALDH6A1	OMIM:614105
HP:0100547	Abnormal forebrain morphology	347734	SLC35B2	OMIM:620269
HP:0100547	Abnormal forebrain morphology	3008	H1-4	OMIM:617537
HP:0100547	Abnormal forebrain morphology	90624	LYRM7	OMIM:615838
HP:0100547	Abnormal forebrain morphology	1119	CHKA	OMIM:620023
HP:0100547	Abnormal forebrain morphology	93210	PGAP3	OMIM:615716
HP:0100547	Abnormal forebrain morphology	83475	DOHH	OMIM:620066
HP:0100547	Abnormal forebrain morphology	11198	SUPT16H	OMIM:619480
HP:0100547	Abnormal forebrain morphology	54828	BCAS3	OMIM:619641
HP:0100547	Abnormal forebrain morphology	374354	NHLRC2	OMIM:618278
HP:0100547	Abnormal forebrain morphology	2316	FLNA	OMIM:300049
HP:0100547	Abnormal forebrain morphology	55182	RNF220	OMIM:619688
HP:0100547	Abnormal forebrain morphology	166378	AFG2A	OMIM:616577
HP:0100547	Abnormal forebrain morphology	23031	MAST3	OMIM:620115
HP:0100547	Abnormal forebrain morphology	6509	SLC1A4	OMIM:616657
HP:0100547	Abnormal forebrain morphology	6595	SMARCA2	OMIM:619293
HP:0100547	Abnormal forebrain morphology	5934	RBL2	OMIM:619690
HP:0100547	Abnormal forebrain morphology	7143	TNR	OMIM:619653
HP:0100547	Abnormal forebrain morphology	23250	ATP11A	OMIM:619851
HP:0100547	Abnormal forebrain morphology	92255	LMBRD2	OMIM:619694
HP:0100547	Abnormal forebrain morphology	111	ADCY5	OMIM:619651
HP:0100547	Abnormal forebrain morphology	1107	CHD3	OMIM:618205
HP:0100547	Abnormal forebrain morphology	9439	MED23	OMIM:614249
HP:0100547	Abnormal forebrain morphology	819	CAMLG	OMIM:620201
HP:0100547	Abnormal forebrain morphology	2898	GRIK2	OMIM:619580
HP:0100547	Abnormal forebrain morphology	26175	LYSET	OMIM:619345
HP:0100547	Abnormal forebrain morphology	283987	HID1	OMIM:619983
HP:0100547	Abnormal forebrain morphology	10159	ATP6AP2	OMIM:300423
HP:0100547	Abnormal forebrain morphology	5442	POLRMT	OMIM:619743
HP:0100547	Abnormal forebrain morphology	127833	SYT2	OMIM:619461
HP:0100547	Abnormal forebrain morphology	1892	ECHS1	OMIM:616277
HP:0100547	Abnormal forebrain morphology	2720	GLB1	OMIM:253010
HP:0100547	Abnormal forebrain morphology	221927	BRAT1	OMIM:614498
HP:0100547	Abnormal forebrain morphology	4338	MOCS2	OMIM:252160
HP:0100547	Abnormal forebrain morphology	3708	ITPR1	OMIM:206700
HP:0100547	Abnormal forebrain morphology	9230	RAB11B	OMIM:617807
HP:0100547	Abnormal forebrain morphology	10533	ATG7	OMIM:619422
HP:0100547	Abnormal forebrain morphology	2261	FGFR3	OMIM:187601
HP:0100547	Abnormal forebrain morphology	55252	ASXL2	OMIM:617190
HP:0100547	Abnormal forebrain morphology	4704	NDUFA9	OMIM:618247
HP:0100547	Abnormal forebrain morphology	375	ARF1	OMIM:618185
HP:0100547	Abnormal forebrain morphology	3658	IREB2	OMIM:618451
HP:0100547	Abnormal forebrain morphology	4929	NR4A2	OMIM:619911
HP:0100547	Abnormal forebrain morphology	10695	CNPY3	OMIM:617929
HP:0100547	Abnormal forebrain morphology	4488	MSX2	ORPHA:60015
HP:0100547	Abnormal forebrain morphology	55901	THSD1	ORPHA:231160
HP:0100547	Abnormal forebrain morphology	7049	TGFBR3	ORPHA:231160
HP:0100547	Abnormal forebrain morphology	83854	ANGPTL6	ORPHA:231160
HP:0100547	Abnormal forebrain morphology	5455	POU3F3	OMIM:618604
HP:0100547	Abnormal forebrain morphology	10371	SEMA3A	OMIM:614897
HP:0100547	Abnormal forebrain morphology	23347	SMCHD1	ORPHA:2250
HP:0100547	Abnormal forebrain morphology	54704	PDP1	ORPHA:79246
HP:0100547	Abnormal forebrain morphology	2548	GAA	ORPHA:308552
HP:0100547	Abnormal forebrain morphology	2643	GCH1	ORPHA:98808
HP:0100547	Abnormal forebrain morphology	3615	IMPDH2	ORPHA:98808
HP:0100547	Abnormal forebrain morphology	29960	MRM2	OMIM:618567
HP:0100547	Abnormal forebrain morphology	5610	EIF2AK2	OMIM:618877
HP:0100547	Abnormal forebrain morphology	10846	PDE10A	OMIM:616921
HP:0100547	Abnormal forebrain morphology	10846	PDE10A	ORPHA:494526
HP:0100547	Abnormal forebrain morphology	6857	SYT1	ORPHA:522077
HP:0100547	Abnormal forebrain morphology	1301	COL11A1	OMIM:154780
HP:0100547	Abnormal forebrain morphology	7072	TIA1	OMIM:619133
HP:0100547	Abnormal forebrain morphology	6620	SNCB	OMIM:127750
HP:0100547	Abnormal forebrain morphology	7957	EPM2A	OMIM:254780
HP:0100547	Abnormal forebrain morphology	7957	EPM2A	ORPHA:501
HP:0100547	Abnormal forebrain morphology	378884	NHLRC1	OMIM:254780
HP:0100547	Abnormal forebrain morphology	378884	NHLRC1	ORPHA:501
HP:0100547	Abnormal forebrain morphology	56978	PRDM8	ORPHA:324290
HP:0100547	Abnormal forebrain morphology	56978	PRDM8	OMIM:616640
HP:0100547	Abnormal forebrain morphology	6091	ROBO1	ORPHA:95496
HP:0100547	Abnormal forebrain morphology	23432	GPR161	ORPHA:95496
HP:0100547	Abnormal forebrain morphology	54805	CNNM2	OMIM:616418
HP:0100547	Abnormal forebrain morphology	26005	C2CD3	ORPHA:434179
HP:0100547	Abnormal forebrain morphology	129685	TAF8	OMIM:619972
HP:0100547	Abnormal forebrain morphology	57094	CPA6	OMIM:614418
HP:0100548	Exstrophy	9968	MED12	OMIM:301068
HP:0100548	Exstrophy	3845	KRAS	OMIM:600268
HP:0100548	Exstrophy	51733	UPB1	OMIM:613161
HP:0100548	Exstrophy	1009	CDH11	ORPHA:1299
HP:0100548	Exstrophy	5053	PAH	ORPHA:2209
HP:0100548	Exstrophy	8626	TP63	ORPHA:93930
HP:0100548	Exstrophy	3670	ISL1	ORPHA:93930
HP:0011013	Abnormal circulating carbohydrate concentration	9131	AIFM1	ORPHA:238329
HP:0011013	Abnormal circulating carbohydrate concentration	9131	AIFM1	OMIM:300816
HP:0011013	Abnormal circulating carbohydrate concentration	9997	SCO2	OMIM:604377
HP:0011013	Abnormal circulating carbohydrate concentration	1738	DLD	OMIM:246900
HP:0011013	Abnormal circulating carbohydrate concentration	5091	PC	OMIM:266150
HP:0011013	Abnormal circulating carbohydrate concentration	54539	NDUFB11	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	25915	NDUFAF3	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	51103	NDUFAF1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	91942	NDUFAF2	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	51300	TIMMDC1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4716	NDUFB10	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4723	NDUFV1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4723	NDUFV1	OMIM:618225
HP:0011013	Abnormal circulating carbohydrate concentration	55572	FOXRED1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	284184	NDUFAF8	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	55863	TMEM126B	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4535	MT-ND1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4537	MT-ND3	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4729	NDUFV2	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4694	NDUFA1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4720	NDUFS2	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4724	NDUFS4	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4726	NDUFS6	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4728	NDUFS8	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4728	NDUFS8	OMIM:618222
HP:0011013	Abnormal circulating carbohydrate concentration	4722	NDUFS3	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	79133	NDUFAF5	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	126328	NDUFA11	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4709	NDUFB3	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	80224	NUBPL	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	29078	NDUFAF4	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	374291	NDUFS7	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4700	NDUFA6	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4536	MT-ND2	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4719	NDUFS1	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	4715	NDUFB9	ORPHA:2609
HP:0011013	Abnormal circulating carbohydrate concentration	51241	COX16	OMIM:619355
HP:0011013	Abnormal circulating carbohydrate concentration	51660	MPC1	OMIM:614741
HP:0011013	Abnormal circulating carbohydrate concentration	9361	LONP1	ORPHA:79243
HP:0011013	Abnormal circulating carbohydrate concentration	5160	PDHA1	ORPHA:79243
HP:0011013	Abnormal circulating carbohydrate concentration	5160	PDHA1	OMIM:312170
HP:0011013	Abnormal circulating carbohydrate concentration	4566	MT-TK	ORPHA:1349
HP:0011013	Abnormal circulating carbohydrate concentration	4566	MT-TK	OMIM:545000
HP:0011013	Abnormal circulating carbohydrate concentration	5428	POLG	ORPHA:94125
HP:0011013	Abnormal circulating carbohydrate concentration	1339	COX6A2	OMIM:619062
HP:0011013	Abnormal circulating carbohydrate concentration	8050	PDHX	OMIM:245349
HP:0011013	Abnormal circulating carbohydrate concentration	617	BCS1L	OMIM:603358
HP:0011013	Abnormal circulating carbohydrate concentration	6390	SDHB	OMIM:619224
HP:0011013	Abnormal circulating carbohydrate concentration	3735	KARS1	OMIM:619147
HP:0011013	Abnormal circulating carbohydrate concentration	4558	MT-TF	OMIM:545000
HP:0011013	Abnormal circulating carbohydrate concentration	4567	MT-TL1	OMIM:545000
HP:0011013	Abnormal circulating carbohydrate concentration	4571	MT-TP	OMIM:545000
HP:0011013	Abnormal circulating carbohydrate concentration	4565	MT-TI	OMIM:545000
HP:0011013	Abnormal circulating carbohydrate concentration	7385	UQCRC2	OMIM:615160
HP:0011013	Abnormal circulating carbohydrate concentration	39	ACAT2	OMIM:614055
HP:0011013	Abnormal circulating carbohydrate concentration	115286	SLC25A26	OMIM:616794
HP:0011013	Abnormal circulating carbohydrate concentration	1352	COX10	OMIM:619046
HP:0011013	Abnormal circulating carbohydrate concentration	387787	LIPT2	OMIM:617668
HP:0011013	Abnormal circulating carbohydrate concentration	56652	TWNK	OMIM:616138
HP:0011013	Abnormal circulating carbohydrate concentration	10531	PITRM1	OMIM:619405
HP:0011013	Abnormal circulating carbohydrate concentration	3939	LDHA	OMIM:612933
HP:0011013	Abnormal circulating carbohydrate concentration	50640	PNPLA8	OMIM:251950
HP:0011013	Abnormal circulating carbohydrate concentration	4204	MECP2	ORPHA:778
HP:0011013	Abnormal circulating carbohydrate concentration	51181	DCXR	ORPHA:2843
HP:0011013	Abnormal circulating carbohydrate concentration	130589	GALM	ORPHA:570422
HP:0011013	Abnormal circulating carbohydrate concentration	130589	GALM	OMIM:618881
HP:0011013	Abnormal circulating carbohydrate concentration	10165	SLC25A13	ORPHA:247598
HP:0011013	Abnormal circulating carbohydrate concentration	6514	SLC2A2	OMIM:227810
HP:0011013	Abnormal circulating carbohydrate concentration	9652	SKIC3	OMIM:222470
HP:0011013	Abnormal circulating carbohydrate concentration	2582	GALE	OMIM:230350
HP:0011013	Abnormal circulating carbohydrate concentration	22934	RPIA	OMIM:608611
HP:0011013	Abnormal circulating carbohydrate concentration	7086	TKT	ORPHA:488618
HP:0011013	Abnormal circulating carbohydrate concentration	6652	SORD	OMIM:618912
HP:0011013	Abnormal circulating carbohydrate concentration	2710	GK	OMIM:307030
HP:0011013	Abnormal circulating carbohydrate concentration	26191	PTPN22	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	3710	ITPR3	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	3569	IL6	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	6927	HNF1A	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	2584	GALK1	ORPHA:79237
HP:0011013	Abnormal circulating carbohydrate concentration	2592	GALT	OMIM:230400
HP:0011014	Abnormal glucose homeostasis	291	SLC25A4	ORPHA:254892
HP:0011014	Abnormal glucose homeostasis	5428	POLG	ORPHA:254892
HP:0011014	Abnormal glucose homeostasis	56652	TWNK	ORPHA:254892
HP:0011014	Abnormal glucose homeostasis	56652	TWNK	OMIM:609286
HP:0011014	Abnormal glucose homeostasis	11232	POLG2	ORPHA:254892
HP:0011014	Abnormal glucose homeostasis	50484	RRM2B	ORPHA:254892
HP:0011014	Abnormal glucose homeostasis	1497	CTNS	OMIM:219800
HP:0011014	Abnormal glucose homeostasis	54539	NDUFB11	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	25915	NDUFAF3	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	51103	NDUFAF1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	91942	NDUFAF2	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4716	NDUFB10	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4723	NDUFV1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	55572	FOXRED1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	284184	NDUFAF8	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	55863	TMEM126B	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4537	MT-ND3	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4729	NDUFV2	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4694	NDUFA1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4720	NDUFS2	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4724	NDUFS4	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4726	NDUFS6	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4728	NDUFS8	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4722	NDUFS3	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	79133	NDUFAF5	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	126328	NDUFA11	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4709	NDUFB3	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	80224	NUBPL	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	29078	NDUFAF4	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	374291	NDUFS7	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4700	NDUFA6	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4536	MT-ND2	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4719	NDUFS1	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	4715	NDUFB9	ORPHA:2609
HP:0011014	Abnormal glucose homeostasis	81555	YIPF5	OMIM:619278
HP:0011014	Abnormal glucose homeostasis	286053	NSMCE2	OMIM:617253
HP:0011014	Abnormal glucose homeostasis	1356	CP	OMIM:604290
HP:0011014	Abnormal glucose homeostasis	1356	CP	ORPHA:48818
HP:0011014	Abnormal glucose homeostasis	55627	SMPD4	OMIM:618622
HP:0011014	Abnormal glucose homeostasis	4508	MT-ATP6	ORPHA:320360
HP:0011014	Abnormal glucose homeostasis	3123	HLA-DRB1	ORPHA:703
HP:0011014	Abnormal glucose homeostasis	7068	THRB	OMIM:274300
HP:0011014	Abnormal glucose homeostasis	60675	PROK2	OMIM:610628
HP:0011014	Abnormal glucose homeostasis	197131	UBR1	OMIM:243800
HP:0011014	Abnormal glucose homeostasis	197131	UBR1	ORPHA:2315
HP:0011014	Abnormal glucose homeostasis	57104	PNPLA2	ORPHA:565612
HP:0011014	Abnormal glucose homeostasis	57104	PNPLA2	OMIM:610717
HP:0011014	Abnormal glucose homeostasis	57104	PNPLA2	ORPHA:98908
HP:0011014	Abnormal glucose homeostasis	63916	ELMO2	ORPHA:3019
HP:0011014	Abnormal glucose homeostasis	169792	GLIS3	OMIM:610199
HP:0011014	Abnormal glucose homeostasis	472	ATM	OMIM:208900
HP:0011014	Abnormal glucose homeostasis	472	ATM	ORPHA:100
HP:0011014	Abnormal glucose homeostasis	10560	SLC19A2	ORPHA:49827
HP:0011014	Abnormal glucose homeostasis	10560	SLC19A2	OMIM:249270
HP:0011014	Abnormal glucose homeostasis	7486	WRN	OMIM:277700
HP:0011014	Abnormal glucose homeostasis	30061	SLC40A1	OMIM:606069
HP:0011014	Abnormal glucose homeostasis	348	APOE	ORPHA:412
HP:0011014	Abnormal glucose homeostasis	134218	DNAJC21	ORPHA:811
HP:0011014	Abnormal glucose homeostasis	79631	EFL1	ORPHA:811
HP:0011014	Abnormal glucose homeostasis	51119	SBDS	ORPHA:811
HP:0011014	Abnormal glucose homeostasis	6729	SRP54	ORPHA:811
HP:0011014	Abnormal glucose homeostasis	10059	DNM1L	ORPHA:98673
HP:0011014	Abnormal glucose homeostasis	4976	OPA1	ORPHA:98673
HP:0011014	Abnormal glucose homeostasis	4976	OPA1	ORPHA:1215
HP:0011014	Abnormal glucose homeostasis	4519	MT-CYB	OMIM:540000
HP:0011014	Abnormal glucose homeostasis	4511	MT-TC	OMIM:540000
HP:0011014	Abnormal glucose homeostasis	4566	MT-TK	OMIM:540000
HP:0011014	Abnormal glucose homeostasis	4577	MT-TV	OMIM:540000
HP:0011014	Abnormal glucose homeostasis	6638	SNRPN	ORPHA:177904
HP:0011014	Abnormal glucose homeostasis	6638	SNRPN	ORPHA:177901
HP:0011014	Abnormal glucose homeostasis	6638	SNRPN	ORPHA:98754
HP:0011014	Abnormal glucose homeostasis	4692	NDN	ORPHA:177904
HP:0011014	Abnormal glucose homeostasis	4692	NDN	ORPHA:177901
HP:0011014	Abnormal glucose homeostasis	4692	NDN	ORPHA:98754
HP:0011014	Abnormal glucose homeostasis	54551	MAGEL2	ORPHA:177904
HP:0011014	Abnormal glucose homeostasis	54551	MAGEL2	ORPHA:177901
HP:0011014	Abnormal glucose homeostasis	54551	MAGEL2	ORPHA:98754
HP:0011014	Abnormal glucose homeostasis	4948	OCA2	ORPHA:177904
HP:0011014	Abnormal glucose homeostasis	4948	OCA2	ORPHA:177901
HP:0011014	Abnormal glucose homeostasis	4948	OCA2	ORPHA:98754
HP:0011014	Abnormal glucose homeostasis	84196	USP48	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	7157	TP53	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	7157	TP53	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	7157	TP53	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	9101	USP8	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	64072	CDH23	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	2908	NR3C1	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	673	BRAF	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	546	ATRX	ORPHA:96253
HP:0011014	Abnormal glucose homeostasis	2332	FMR1	ORPHA:449291
HP:0011014	Abnormal glucose homeostasis	6928	HNF1B	OMIM:137920
HP:0011014	Abnormal glucose homeostasis	6928	HNF1B	ORPHA:261265
HP:0011014	Abnormal glucose homeostasis	6928	HNF1B	ORPHA:93111
HP:0011014	Abnormal glucose homeostasis	3376	IARS1	ORPHA:541423
HP:0011014	Abnormal glucose homeostasis	3953	LEPR	OMIM:614963
HP:0011014	Abnormal glucose homeostasis	84100	ARL6	OMIM:209900
HP:0011014	Abnormal glucose homeostasis	79140	CCDC28B	OMIM:209900
HP:0011014	Abnormal glucose homeostasis	582	BBS1	OMIM:209900
HP:0011014	Abnormal glucose homeostasis	83550	GPR101	ORPHA:963
HP:0011014	Abnormal glucose homeostasis	9049	AIP	ORPHA:963
HP:0011014	Abnormal glucose homeostasis	84133	ZNRF3	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	5573	PRKAR1A	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	5573	PRKAR1A	ORPHA:189439
HP:0011014	Abnormal glucose homeostasis	5573	PRKAR1A	ORPHA:280651
HP:0011014	Abnormal glucose homeostasis	1499	CTNNB1	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	1029	CDKN2A	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	1029	CDKN2A	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	7015	TERT	ORPHA:1501
HP:0011014	Abnormal glucose homeostasis	7015	TERT	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	10555	AGPAT2	OMIM:608594
HP:0011014	Abnormal glucose homeostasis	10555	AGPAT2	ORPHA:528
HP:0011014	Abnormal glucose homeostasis	7274	TTPA	ORPHA:96
HP:0011014	Abnormal glucose homeostasis	7466	WFS1	OMIM:222300
HP:0011014	Abnormal glucose homeostasis	7466	WFS1	OMIM:614296
HP:0011014	Abnormal glucose homeostasis	7466	WFS1	ORPHA:3463
HP:0011014	Abnormal glucose homeostasis	7466	WFS1	ORPHA:411590
HP:0011014	Abnormal glucose homeostasis	8091	HMGA2	ORPHA:94063
HP:0011014	Abnormal glucose homeostasis	23592	LEMD3	ORPHA:94063
HP:0011014	Abnormal glucose homeostasis	51651	PTRH2	ORPHA:456312
HP:0011014	Abnormal glucose homeostasis	51651	PTRH2	OMIM:616263
HP:0011014	Abnormal glucose homeostasis	2992	GYG1	ORPHA:263297
HP:0011014	Abnormal glucose homeostasis	5424	POLD1	OMIM:615381
HP:0011014	Abnormal glucose homeostasis	672	BRCA1	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	285282	RABL3	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	675	BRCA2	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	3845	KRAS	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	79728	PALB2	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	4089	SMAD4	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	23022	PALLD	ORPHA:1333
HP:0011014	Abnormal glucose homeostasis	5144	PDE4D	OMIM:614613
HP:0011014	Abnormal glucose homeostasis	5144	PDE4D	ORPHA:280651
HP:0011014	Abnormal glucose homeostasis	57817	HAMP	ORPHA:79230
HP:0011014	Abnormal glucose homeostasis	148738	HJV	ORPHA:79230
HP:0011014	Abnormal glucose homeostasis	8195	MKKS	OMIM:605231
HP:0011014	Abnormal glucose homeostasis	2697	GJA1	ORPHA:317
HP:0011014	Abnormal glucose homeostasis	2707	GJB3	ORPHA:317
HP:0011014	Abnormal glucose homeostasis	2531	KDSR	ORPHA:317
HP:0011014	Abnormal glucose homeostasis	127534	GJB4	ORPHA:317
HP:0011014	Abnormal glucose homeostasis	2395	FXN	ORPHA:95
HP:0011014	Abnormal glucose homeostasis	2395	FXN	OMIM:229300
HP:0011014	Abnormal glucose homeostasis	165	AEBP1	ORPHA:536532
HP:0011014	Abnormal glucose homeostasis	11330	CTRC	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	11330	CTRC	OMIM:167800
HP:0011014	Abnormal glucose homeostasis	5644	PRSS1	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	5644	PRSS1	OMIM:167800
HP:0011014	Abnormal glucose homeostasis	5645	PRSS2	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	5645	PRSS2	OMIM:167800
HP:0011014	Abnormal glucose homeostasis	6690	SPINK1	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	6690	SPINK1	OMIM:167800
HP:0011014	Abnormal glucose homeostasis	846	CASR	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	1080	CFTR	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	1080	CFTR	OMIM:167800
HP:0011014	Abnormal glucose homeostasis	1357	CPA1	ORPHA:676
HP:0011014	Abnormal glucose homeostasis	650	BMP2	OMIM:235200
HP:0011014	Abnormal glucose homeostasis	3975	LHX1	ORPHA:261265
HP:0011014	Abnormal glucose homeostasis	3043	HBB	ORPHA:231214
HP:0011014	Abnormal glucose homeostasis	3043	HBB	ORPHA:231222
HP:0011014	Abnormal glucose homeostasis	3043	HBB	ORPHA:231226
HP:0011014	Abnormal glucose homeostasis	5566	PRKACA	OMIM:615830
HP:0011014	Abnormal glucose homeostasis	5566	PRKACA	ORPHA:189439
HP:0011014	Abnormal glucose homeostasis	8622	PDE8B	ORPHA:189439
HP:0011014	Abnormal glucose homeostasis	50940	PDE11A	ORPHA:189439
HP:0011014	Abnormal glucose homeostasis	5189	PEX1	ORPHA:3220
HP:0011014	Abnormal glucose homeostasis	5190	PEX6	ORPHA:3220
HP:0011014	Abnormal glucose homeostasis	493856	CISD2	ORPHA:3463
HP:0011014	Abnormal glucose homeostasis	493856	CISD2	OMIM:604928
HP:0011014	Abnormal glucose homeostasis	79759	ZNF668	OMIM:620194
HP:0011014	Abnormal glucose homeostasis	26137	ZBTB20	OMIM:259050
HP:0011014	Abnormal glucose homeostasis	5244	ABCB4	ORPHA:69663
HP:0011014	Abnormal glucose homeostasis	2642	GCGR	ORPHA:438274
HP:0011014	Abnormal glucose homeostasis	27086	FOXP1	ORPHA:391372
HP:0011014	Abnormal glucose homeostasis	51124	IER3IP1	OMIM:614231
HP:0011014	Abnormal glucose homeostasis	93587	TRMT10A	ORPHA:391408
HP:0011014	Abnormal glucose homeostasis	93587	TRMT10A	OMIM:616033
HP:0011014	Abnormal glucose homeostasis	84919	PPP1R15B	ORPHA:391408
HP:0011014	Abnormal glucose homeostasis	51085	MLXIPL	OMIM:194050
HP:0011014	Abnormal glucose homeostasis	2006	ELN	OMIM:194050
HP:0011014	Abnormal glucose homeostasis	4205	MEF2A	OMIM:608320
HP:0011014	Abnormal glucose homeostasis	4854	NOTCH3	ORPHA:136
HP:0011014	Abnormal glucose homeostasis	7518	XRCC4	OMIM:616541
HP:0011014	Abnormal glucose homeostasis	2625	GATA3	ORPHA:2237
HP:0011014	Abnormal glucose homeostasis	5879	RAC1	ORPHA:500159
HP:0011014	Abnormal glucose homeostasis	1968	EIF2S3	ORPHA:85282
HP:0011014	Abnormal glucose homeostasis	2303	FOXC2	ORPHA:33001
HP:0011014	Abnormal glucose homeostasis	4693	NDP	ORPHA:649
HP:0011014	Abnormal glucose homeostasis	284119	CAVIN1	ORPHA:528
HP:0011014	Abnormal glucose homeostasis	26580	BSCL2	ORPHA:528
HP:0011014	Abnormal glucose homeostasis	2353	FOS	ORPHA:528
HP:0011014	Abnormal glucose homeostasis	3514	IGKC	ORPHA:183675
HP:0011014	Abnormal glucose homeostasis	3501	IGHG2	ORPHA:183675
HP:0011014	Abnormal glucose homeostasis	641	BLM	ORPHA:125
HP:0011014	Abnormal glucose homeostasis	80067	DCAF17	OMIM:241080
HP:0011014	Abnormal glucose homeostasis	3991	LIPE	OMIM:615980
HP:0011014	Abnormal glucose homeostasis	23503	ZFYVE26	ORPHA:100996
HP:0011014	Abnormal glucose homeostasis	583	BBS2	OMIM:615981
HP:0011014	Abnormal glucose homeostasis	84823	LMNB2	OMIM:608709
HP:0011014	Abnormal glucose homeostasis	80169	CTC1	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	26277	TINF2	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	55651	NHP2	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	79650	USB1	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	55135	WRAP53	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	51750	RTEL1	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	4869	NPM1	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	7012	TERC	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	55505	NOP10	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	5073	PARN	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	1736	DKC1	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	7298	TYMS	ORPHA:1775
HP:0011014	Abnormal glucose homeostasis	116519	APOA5	OMIM:144650
HP:0011014	Abnormal glucose homeostasis	54938	SARS2	OMIM:613845
HP:0011014	Abnormal glucose homeostasis	25886	POC1A	OMIM:614813
HP:0011014	Abnormal glucose homeostasis	3480	IGF1R	OMIM:270450
HP:0011014	Abnormal glucose homeostasis	10535	RNASEH2A	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	84153	RNASEH2C	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	25939	SAMHD1	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	79621	RNASEH2B	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	103	ADAR	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	11277	TREX1	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	100147744	RNU7-1	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	134353	LSM11	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	64135	IFIH1	ORPHA:51
HP:0011014	Abnormal glucose homeostasis	4351	MPI	ORPHA:79319
HP:0011014	Abnormal glucose homeostasis	4351	MPI	OMIM:602579
HP:0011014	Abnormal glucose homeostasis	54914	FOCAD	OMIM:619991
HP:0011014	Abnormal glucose homeostasis	10367	MICU1	ORPHA:401768
HP:0011014	Abnormal glucose homeostasis	63924	CIDEC	ORPHA:435651
HP:0011014	Abnormal glucose homeostasis	3952	LEP	ORPHA:66628
HP:0011014	Abnormal glucose homeostasis	23137	SMC5	OMIM:620185
HP:0011014	Abnormal glucose homeostasis	2074	ERCC6	OMIM:214150
HP:0011014	Abnormal glucose homeostasis	3479	IGF1	ORPHA:73272
HP:0011014	Abnormal glucose homeostasis	7840	ALMS1	ORPHA:64
HP:0011014	Abnormal glucose homeostasis	1621	DBH	ORPHA:230
HP:0011014	Abnormal glucose homeostasis	3290	HSD11B1	OMIM:614662
HP:0011014	Abnormal glucose homeostasis	2887	GRB10	ORPHA:96182
HP:0011014	Abnormal glucose homeostasis	221496	LEMD2	OMIM:619322
HP:0011014	Abnormal glucose homeostasis	6934	TCF7L2	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	3990	LIPC	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	9479	MAPK8IP1	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	56729	RETN	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	4544	MTNR1B	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	5506	PPP1R3A	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	208	AKT2	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	208	AKT2	ORPHA:79085
HP:0011014	Abnormal glucose homeostasis	10644	IGF2BP2	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	5770	PTPN1	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	8660	IRS2	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	3159	HMGA1	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	3667	IRS1	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	169026	SLC30A8	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	2820	GPD2	OMIM:125853
HP:0011014	Abnormal glucose homeostasis	3662	IRF4	ORPHA:3452
HP:0011014	Abnormal glucose homeostasis	10651	MTX2	ORPHA:90153
HP:0011014	Abnormal glucose homeostasis	5373	PMM2	ORPHA:79318
HP:0011014	Abnormal glucose homeostasis	3483	IGFALS	ORPHA:140941
HP:0011014	Abnormal glucose homeostasis	9927	MFN2	ORPHA:2398
HP:0011014	Abnormal glucose homeostasis	5346	PLIN1	OMIM:613877
HP:0011014	Abnormal glucose homeostasis	109	ADCY3	OMIM:617885
HP:0011014	Abnormal glucose homeostasis	84984	CEP19	OMIM:615703
HP:0011014	Abnormal glucose homeostasis	1588	CYP19A1	ORPHA:91
HP:0011014	Abnormal glucose homeostasis	1374	CPT1A	ORPHA:156
HP:0011014	Abnormal glucose homeostasis	1534	CYB561	OMIM:618182
HP:0011014	Abnormal glucose homeostasis	25821	MTO1	OMIM:614702
HP:0011014	Abnormal glucose homeostasis	23417	MLYCD	OMIM:248360
HP:0011014	Abnormal glucose homeostasis	3481	IGF2	ORPHA:231140
HP:0011014	Abnormal glucose homeostasis	3481	IGF2	ORPHA:397590
HP:0011014	Abnormal glucose homeostasis	283120	H19	ORPHA:231140
HP:0011014	Abnormal glucose homeostasis	3158	HMGCS2	ORPHA:35701
HP:0011014	Abnormal glucose homeostasis	6341	SCO1	OMIM:619048
HP:0011014	Abnormal glucose homeostasis	5015	OTX2	OMIM:613986
HP:0011014	Abnormal glucose homeostasis	5015	OTX2	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	55163	PNPO	ORPHA:79096
HP:0011014	Abnormal glucose homeostasis	55163	PNPO	OMIM:610090
HP:0011014	Abnormal glucose homeostasis	1738	DLD	ORPHA:2394
HP:0011014	Abnormal glucose homeostasis	1738	DLD	OMIM:246900
HP:0011014	Abnormal glucose homeostasis	5105	PCK1	OMIM:261680
HP:0011014	Abnormal glucose homeostasis	100131801	PET100	OMIM:619055
HP:0011014	Abnormal glucose homeostasis	2538	G6PC1	OMIM:232200
HP:0011014	Abnormal glucose homeostasis	36	ACADSB	OMIM:610006
HP:0011014	Abnormal glucose homeostasis	64087	MCCC2	OMIM:210210
HP:0011014	Abnormal glucose homeostasis	64087	MCCC2	ORPHA:6
HP:0011014	Abnormal glucose homeostasis	501	ALDH7A1	ORPHA:3006
HP:0011014	Abnormal glucose homeostasis	11212	PLPBP	ORPHA:3006
HP:0011014	Abnormal glucose homeostasis	1716	DGUOK	OMIM:251880
HP:0011014	Abnormal glucose homeostasis	5095	PCCA	OMIM:606054
HP:0011014	Abnormal glucose homeostasis	5095	PCCA	ORPHA:35
HP:0011014	Abnormal glucose homeostasis	5096	PCCB	OMIM:606054
HP:0011014	Abnormal glucose homeostasis	5096	PCCB	ORPHA:35
HP:0011014	Abnormal glucose homeostasis	8802	SUCLG1	OMIM:245400
HP:0011014	Abnormal glucose homeostasis	8802	SUCLG1	ORPHA:17
HP:0011014	Abnormal glucose homeostasis	2688	GH1	OMIM:262400
HP:0011014	Abnormal glucose homeostasis	5528	PPP2R5D	OMIM:616355
HP:0011014	Abnormal glucose homeostasis	5528	PPP2R5D	ORPHA:457279
HP:0011014	Abnormal glucose homeostasis	132158	GLYCTK	OMIM:220120
HP:0011014	Abnormal glucose homeostasis	790955	UQCC3	OMIM:616111
HP:0011014	Abnormal glucose homeostasis	55065	SLC52A1	OMIM:615026
HP:0011014	Abnormal glucose homeostasis	84342	COG8	ORPHA:95428
HP:0011014	Abnormal glucose homeostasis	56922	MCCC1	OMIM:210200
HP:0011014	Abnormal glucose homeostasis	56922	MCCC1	ORPHA:6
HP:0011014	Abnormal glucose homeostasis	84947	SERAC1	OMIM:614739
HP:0011014	Abnormal glucose homeostasis	3265	HRAS	OMIM:218040
HP:0011014	Abnormal glucose homeostasis	23530	NNT	OMIM:614736
HP:0011014	Abnormal glucose homeostasis	129563	DIS3L2	OMIM:267000
HP:0011014	Abnormal glucose homeostasis	4953	ODC1	OMIM:619075
HP:0011014	Abnormal glucose homeostasis	5091	PC	OMIM:266150
HP:0011014	Abnormal glucose homeostasis	51594	NBAS	OMIM:616483
HP:0011014	Abnormal glucose homeostasis	5447	POR	OMIM:201750
HP:0011014	Abnormal glucose homeostasis	1629	DBT	OMIM:248600
HP:0011014	Abnormal glucose homeostasis	593	BCKDHA	OMIM:248600
HP:0011014	Abnormal glucose homeostasis	594	BCKDHB	OMIM:248600
HP:0011014	Abnormal glucose homeostasis	8879	SGPL1	OMIM:617575
HP:0011014	Abnormal glucose homeostasis	3028	HSD17B10	OMIM:300438
HP:0011014	Abnormal glucose homeostasis	3028	HSD17B10	ORPHA:391428
HP:0011014	Abnormal glucose homeostasis	5255	PHKA1	OMIM:300559
HP:0011014	Abnormal glucose homeostasis	51660	MPC1	OMIM:614741
HP:0011014	Abnormal glucose homeostasis	5626	PROP1	ORPHA:226307
HP:0011014	Abnormal glucose homeostasis	5626	PROP1	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	5626	PROP1	ORPHA:90695
HP:0011014	Abnormal glucose homeostasis	89884	LHX4	ORPHA:226307
HP:0011014	Abnormal glucose homeostasis	89884	LHX4	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	89884	LHX4	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	89884	LHX4	OMIM:262700
HP:0011014	Abnormal glucose homeostasis	8022	LHX3	ORPHA:226307
HP:0011014	Abnormal glucose homeostasis	5449	POU1F1	ORPHA:226307
HP:0011014	Abnormal glucose homeostasis	5449	POU1F1	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	8820	HESX1	ORPHA:226307
HP:0011014	Abnormal glucose homeostasis	8820	HESX1	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	8820	HESX1	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	55699	IARS2	OMIM:616007
HP:0011014	Abnormal glucose homeostasis	6566	SLC16A1	OMIM:610021
HP:0011014	Abnormal glucose homeostasis	7381	UQCRB	OMIM:615158
HP:0011014	Abnormal glucose homeostasis	79753	SNIP1	OMIM:614501
HP:0011014	Abnormal glucose homeostasis	5836	PYGL	OMIM:232700
HP:0011014	Abnormal glucose homeostasis	5836	PYGL	ORPHA:369
HP:0011014	Abnormal glucose homeostasis	5728	PTEN	ORPHA:109
HP:0011014	Abnormal glucose homeostasis	10056	FARSB	OMIM:613658
HP:0011014	Abnormal glucose homeostasis	128674	PROKR2	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	55717	WDR11	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	6091	ROBO1	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	50937	CDON	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	23432	GPR161	ORPHA:95496
HP:0011014	Abnormal glucose homeostasis	2203	FBP1	ORPHA:348
HP:0011014	Abnormal glucose homeostasis	2203	FBP1	OMIM:229700
HP:0011014	Abnormal glucose homeostasis	2736	GLI2	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	3170	FOXA2	ORPHA:95494
HP:0011014	Abnormal glucose homeostasis	7385	UQCRC2	OMIM:615160
HP:0011014	Abnormal glucose homeostasis	1028	CDKN1C	ORPHA:397590
HP:0011014	Abnormal glucose homeostasis	5324	PLAG1	ORPHA:397590
HP:0011014	Abnormal glucose homeostasis	28976	ACAD9	OMIM:611126
HP:0011014	Abnormal glucose homeostasis	471	ATIC	OMIM:608688
HP:0011014	Abnormal glucose homeostasis	1962	EHHADH	ORPHA:3337
HP:0011014	Abnormal glucose homeostasis	2628	GATM	ORPHA:3337
HP:0011014	Abnormal glucose homeostasis	137682	NDUFAF6	ORPHA:3337
HP:0011014	Abnormal glucose homeostasis	6569	SLC34A1	ORPHA:3337
HP:0011014	Abnormal glucose homeostasis	34	ACADM	ORPHA:42
HP:0011014	Abnormal glucose homeostasis	34	ACADM	OMIM:201450
HP:0011014	Abnormal glucose homeostasis	775	CACNA1C	OMIM:601005
HP:0011014	Abnormal glucose homeostasis	7030	TFE3	OMIM:301066
HP:0011014	Abnormal glucose homeostasis	2239	GPC4	ORPHA:373
HP:0011014	Abnormal glucose homeostasis	2719	GPC3	ORPHA:373
HP:0011014	Abnormal glucose homeostasis	54941	RNF125	OMIM:616260
HP:0011014	Abnormal glucose homeostasis	125988	MICOS13	OMIM:618329
HP:0011014	Abnormal glucose homeostasis	8565	YARS1	OMIM:619418
HP:0011014	Abnormal glucose homeostasis	2184	FAH	OMIM:276700
HP:0011014	Abnormal glucose homeostasis	178	AGL	ORPHA:366
HP:0011014	Abnormal glucose homeostasis	178	AGL	OMIM:232400
HP:0011014	Abnormal glucose homeostasis	197322	ACSF3	ORPHA:289504
HP:0011014	Abnormal glucose homeostasis	5256	PHKA2	ORPHA:264580
HP:0011014	Abnormal glucose homeostasis	5256	PHKA2	OMIM:306000
HP:0011014	Abnormal glucose homeostasis	5261	PHKG2	ORPHA:264580
HP:0011014	Abnormal glucose homeostasis	5261	PHKG2	OMIM:613027
HP:0011014	Abnormal glucose homeostasis	6658	SOX3	ORPHA:90695
HP:0011014	Abnormal glucose homeostasis	91949	COG7	OMIM:608779
HP:0011014	Abnormal glucose homeostasis	763	CA5A	OMIM:615751
HP:0011014	Abnormal glucose homeostasis	2690	GHR	ORPHA:314802
HP:0011014	Abnormal glucose homeostasis	2690	GHR	ORPHA:633
HP:0011014	Abnormal glucose homeostasis	5009	OTC	ORPHA:664
HP:0011014	Abnormal glucose homeostasis	549	AUH	ORPHA:67046
HP:0011014	Abnormal glucose homeostasis	10525	HYOU1	OMIM:233600
HP:0011014	Abnormal glucose homeostasis	2710	GK	OMIM:307030
HP:0011014	Abnormal glucose homeostasis	2592	GALT	ORPHA:79239
HP:0011014	Abnormal glucose homeostasis	2530	FUT8	OMIM:618005
HP:0011014	Abnormal glucose homeostasis	51116	MRPS2	OMIM:617950
HP:0011014	Abnormal glucose homeostasis	513	ATP5F1D	OMIM:618120
HP:0011014	Abnormal glucose homeostasis	7019	TFAM	OMIM:617156
HP:0011014	Abnormal glucose homeostasis	10352	WARS2	OMIM:617710
HP:0011014	Abnormal glucose homeostasis	4594	MMUT	OMIM:251000
HP:0011014	Abnormal glucose homeostasis	128989	TANGO2	ORPHA:480864
HP:0011014	Abnormal glucose homeostasis	128989	TANGO2	OMIM:616878
HP:0011014	Abnormal glucose homeostasis	538	ATP7A	ORPHA:565
HP:0011014	Abnormal glucose homeostasis	9971	NR1H4	OMIM:617049
HP:0011014	Abnormal glucose homeostasis	2475	MTOR	OMIM:616638
HP:0011014	Abnormal glucose homeostasis	55186	SLC25A36	OMIM:620211
HP:0011014	Abnormal glucose homeostasis	2584	GALK1	ORPHA:79237
HP:0011014	Abnormal glucose homeostasis	1589	CYP21A2	OMIM:201910
HP:0011014	Abnormal glucose homeostasis	51241	COX16	OMIM:619355
HP:0011014	Abnormal glucose homeostasis	54809	SAMD9	OMIM:617053
HP:0011014	Abnormal glucose homeostasis	9150	CTDP1	ORPHA:48431
HP:0011014	Abnormal glucose homeostasis	788	SLC25A20	OMIM:212138
HP:0011014	Abnormal glucose homeostasis	80036	TRPM3	OMIM:620224
HP:0011014	Abnormal glucose homeostasis	5106	PCK2	OMIM:261650
HP:0011014	Abnormal glucose homeostasis	55278	QRSL1	OMIM:618835
HP:0011014	Abnormal glucose homeostasis	28957	MRPS28	OMIM:618958
HP:0011014	Abnormal glucose homeostasis	5188	GATB	OMIM:618838
HP:0011014	Abnormal glucose homeostasis	3030	HADHA	OMIM:609016
HP:0011014	Abnormal glucose homeostasis	3030	HADHA	ORPHA:5
HP:0011014	Abnormal glucose homeostasis	283459	GATC	OMIM:618839
HP:0011014	Abnormal glucose homeostasis	5495	PPM1B	ORPHA:163693
HP:0011014	Abnormal glucose homeostasis	6519	SLC3A1	ORPHA:163693
HP:0011014	Abnormal glucose homeostasis	9581	PREPL	ORPHA:163693
HP:0011014	Abnormal glucose homeostasis	79823	CAMKMT	ORPHA:163693
HP:0011014	Abnormal glucose homeostasis	55252	ASXL2	OMIM:617190
HP:0011014	Abnormal glucose homeostasis	1376	CPT2	OMIM:608836
HP:0011014	Abnormal glucose homeostasis	51081	MRPS7	OMIM:617872
HP:0011014	Abnormal glucose homeostasis	5236	PGM1	OMIM:614921
HP:0011014	Abnormal glucose homeostasis	25974	MMACHC	ORPHA:79282
HP:0011014	Abnormal glucose homeostasis	2639	GCDH	OMIM:231670
HP:0011014	Abnormal glucose homeostasis	9054	NFS1	OMIM:619386
HP:0011014	Abnormal glucose homeostasis	7388	UQCRH	OMIM:620137
HP:0011014	Abnormal glucose homeostasis	2693	GHSR	ORPHA:314811
HP:0011014	Abnormal glucose homeostasis	2108	ETFA	OMIM:231680
HP:0011014	Abnormal glucose homeostasis	2109	ETFB	OMIM:231680
HP:0011014	Abnormal glucose homeostasis	2110	ETFDH	OMIM:231680
HP:0011014	Abnormal glucose homeostasis	212	ALAS2	ORPHA:75563
HP:0011014	Abnormal glucose homeostasis	2778	GNAS	ORPHA:189427
HP:0011014	Abnormal glucose homeostasis	57570	TRMT5	OMIM:616539
HP:0011014	Abnormal glucose homeostasis	5979	RET	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	8516	ITGA8	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	26281	FGF20	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	2674	GFRA1	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	7484	WNT9B	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	80000	GREB1L	ORPHA:1848
HP:0011014	Abnormal glucose homeostasis	37	ACADVL	ORPHA:26793
HP:0011014	Abnormal glucose homeostasis	3033	HADH	OMIM:231530
HP:0011014	Abnormal glucose homeostasis	3033	HADH	ORPHA:71212
HP:0011014	Abnormal glucose homeostasis	3032	HADHB	ORPHA:746
HP:0011014	Abnormal glucose homeostasis	22845	DOLK	OMIM:610768
HP:0011014	Abnormal glucose homeostasis	3155	HMGCL	ORPHA:20
HP:0011014	Abnormal glucose homeostasis	4791	NFKB2	ORPHA:293978
HP:0011014	Abnormal glucose homeostasis	4158	MC2R	OMIM:202200
HP:0011014	Abnormal glucose homeostasis	5058	PAK1	OMIM:618158
HP:0011014	Abnormal glucose homeostasis	4665	NAB2	ORPHA:2126
HP:0011014	Abnormal glucose homeostasis	6778	STAT6	ORPHA:2126
HP:0011014	Abnormal glucose homeostasis	4358	MPV17	OMIM:256810
HP:0011014	Abnormal glucose homeostasis	5257	PHKB	ORPHA:79240
HP:0011014	Abnormal glucose homeostasis	56246	MRAP	OMIM:607398
HP:0011014	Abnormal glucose homeostasis	79087	ALG12	ORPHA:79324
HP:0011014	Abnormal glucose homeostasis	6584	SLC22A5	OMIM:212140
HP:0011014	Abnormal glucose homeostasis	8925	HERC1	ORPHA:457359
HP:0011014	Abnormal glucose homeostasis	51422	PRKAG2	OMIM:261740
HP:0011014	Abnormal glucose homeostasis	64324	NSD1	OMIM:117550
HP:0011014	Abnormal glucose homeostasis	64324	NSD1	ORPHA:821
HP:0011014	Abnormal glucose homeostasis	10984	KCNQ1OT1	OMIM:130650
HP:0011014	Abnormal glucose homeostasis	3784	KCNQ1	OMIM:130650
HP:0011014	Abnormal glucose homeostasis	131118	DNAJC19	ORPHA:66634
HP:0011014	Abnormal glucose homeostasis	1583	CYP11A1	ORPHA:168558
HP:0011014	Abnormal glucose homeostasis	1583	CYP11A1	ORPHA:289548
HP:0011014	Abnormal glucose homeostasis	81570	CLPB	ORPHA:445038
HP:0011014	Abnormal glucose homeostasis	81570	CLPB	OMIM:616271
HP:0011014	Abnormal glucose homeostasis	29072	SETD2	ORPHA:821
HP:0011014	Abnormal glucose homeostasis	10297	APC2	ORPHA:821
HP:0011014	Abnormal glucose homeostasis	10943	MSL3	OMIM:301032
HP:0011014	Abnormal glucose homeostasis	8567	MADD	OMIM:619004
HP:0011014	Abnormal glucose homeostasis	7403	KDM6A	OMIM:300867
HP:0011014	Abnormal glucose homeostasis	1352	COX10	OMIM:619046
HP:0011014	Abnormal glucose homeostasis	10682	EBP	ORPHA:35173
HP:0011014	Abnormal glucose homeostasis	23152	CIC	OMIM:617600
HP:0011014	Abnormal glucose homeostasis	27429	HTRA2	OMIM:617248
HP:0011014	Abnormal glucose homeostasis	3284	HSD3B2	ORPHA:90791
HP:0011014	Abnormal glucose homeostasis	6770	STAR	ORPHA:361
HP:0011014	Abnormal glucose homeostasis	10587	TXNRD2	ORPHA:361
HP:0011014	Abnormal glucose homeostasis	9095	TBX19	ORPHA:199296
HP:0011014	Abnormal glucose homeostasis	5443	POMC	OMIM:609734
HP:0011014	Abnormal glucose homeostasis	5443	POMC	ORPHA:71526
HP:0011014	Abnormal glucose homeostasis	23126	POGZ	OMIM:616364
HP:0011014	Abnormal glucose homeostasis	6927	HNF1A	OMIM:600496
HP:0011014	Abnormal glucose homeostasis	6927	HNF1A	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	6927	HNF1A	OMIM:222100
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	OMIM:610582
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	OMIM:616329
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	ORPHA:79134
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	ORPHA:99886
HP:0011014	Abnormal glucose homeostasis	3767	KCNJ11	OMIM:618856
HP:0011014	Abnormal glucose homeostasis	8462	KLF11	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	2645	GCK	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	2645	GCK	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	2645	GCK	OMIM:606176
HP:0011014	Abnormal glucose homeostasis	26060	APPL1	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	640	BLK	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	1056	CEL	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	1056	CEL	OMIM:609812
HP:0011014	Abnormal glucose homeostasis	4760	NEUROD1	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3651	PDX1	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3651	PDX1	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	6833	ABCC8	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	6833	ABCC8	ORPHA:79134
HP:0011014	Abnormal glucose homeostasis	6833	ABCC8	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	6833	ABCC8	ORPHA:99886
HP:0011014	Abnormal glucose homeostasis	6833	ABCC8	OMIM:618857
HP:0011014	Abnormal glucose homeostasis	5078	PAX4	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3172	HNF4A	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3630	INS	ORPHA:552
HP:0011014	Abnormal glucose homeostasis	3630	INS	OMIM:613370
HP:0011014	Abnormal glucose homeostasis	3630	INS	OMIM:616214
HP:0011014	Abnormal glucose homeostasis	3630	INS	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	3630	INS	OMIM:618858
HP:0011014	Abnormal glucose homeostasis	10128	LRPPRC	OMIM:220111
HP:0011014	Abnormal glucose homeostasis	3643	INSR	OMIM:262190
HP:0011014	Abnormal glucose homeostasis	3643	INSR	OMIM:246200
HP:0011014	Abnormal glucose homeostasis	10269	ZMPSTE24	OMIM:608612
HP:0011014	Abnormal glucose homeostasis	2737	GLI3	OMIM:175700
HP:0011014	Abnormal glucose homeostasis	222546	RFX6	OMIM:615710
HP:0011014	Abnormal glucose homeostasis	3795	KHK	ORPHA:2056
HP:0011014	Abnormal glucose homeostasis	79798	ARMC5	OMIM:615954
HP:0011014	Abnormal glucose homeostasis	256297	PTF1A	OMIM:609069
HP:0011014	Abnormal glucose homeostasis	2627	GATA6	OMIM:600001
HP:0011014	Abnormal glucose homeostasis	57061	HYMAI	OMIM:601410
HP:0011014	Abnormal glucose homeostasis	57061	HYMAI	ORPHA:99886
HP:0011014	Abnormal glucose homeostasis	346171	ZFP57	OMIM:601410
HP:0011014	Abnormal glucose homeostasis	346171	ZFP57	ORPHA:99886
HP:0011014	Abnormal glucose homeostasis	27125	AFF4	ORPHA:444077
HP:0011014	Abnormal glucose homeostasis	5468	PPARG	OMIM:604367
HP:0011014	Abnormal glucose homeostasis	25970	SH2B1	ORPHA:329249
HP:0011014	Abnormal glucose homeostasis	5167	ENPP1	OMIM:615522
HP:0011014	Abnormal glucose homeostasis	4000	LMNA	OMIM:248370
HP:0011014	Abnormal glucose homeostasis	4000	LMNA	OMIM:151660
HP:0011014	Abnormal glucose homeostasis	4000	LMNA	ORPHA:79474
HP:0011014	Abnormal glucose homeostasis	10342	TFG	OMIM:604484
HP:0011014	Abnormal glucose homeostasis	79731	NARS2	ORPHA:79134
HP:0011014	Abnormal glucose homeostasis	6774	STAT3	ORPHA:99885
HP:0011014	Abnormal glucose homeostasis	617	BCS1L	OMIM:124000
HP:0011014	Abnormal glucose homeostasis	5325	PLAGL1	ORPHA:99886
HP:0011014	Abnormal glucose homeostasis	38	ACAT1	ORPHA:134
HP:0011014	Abnormal glucose homeostasis	5295	PIK3R1	OMIM:269880
HP:0011014	Abnormal glucose homeostasis	6524	SLC5A2	ORPHA:69076
HP:0011014	Abnormal glucose homeostasis	1537	CYC1	OMIM:615453
HP:0011014	Abnormal glucose homeostasis	9692	PRORP	OMIM:619737
HP:0011014	Abnormal glucose homeostasis	9149	DYRK1B	OMIM:615812
HP:0011014	Abnormal glucose homeostasis	654	BMP6	ORPHA:465508
HP:0011014	Abnormal glucose homeostasis	3077	HFE	ORPHA:465508
HP:0011014	Abnormal glucose homeostasis	9699	RIMS2	OMIM:618970
HP:0011014	Abnormal glucose homeostasis	26191	PTPN22	OMIM:222100
HP:0011014	Abnormal glucose homeostasis	3710	ITPR3	OMIM:222100
HP:0011014	Abnormal glucose homeostasis	3569	IL6	OMIM:222100
HP:0011014	Abnormal glucose homeostasis	27241	BBS9	OMIM:615986
HP:0011014	Abnormal glucose homeostasis	6505	SLC1A1	OMIM:222730
HP:0011014	Abnormal glucose homeostasis	79048	SECISBP2	ORPHA:171706
HP:0011014	Abnormal glucose homeostasis	388015	RTL1	ORPHA:96184
HP:0011014	Abnormal glucose homeostasis	388015	RTL1	ORPHA:254531
HP:0011014	Abnormal glucose homeostasis	8788	DLK1	ORPHA:96184
HP:0011014	Abnormal glucose homeostasis	8788	DLK1	ORPHA:254531
HP:0011014	Abnormal glucose homeostasis	55384	MEG3	ORPHA:96184
HP:0011014	Abnormal glucose homeostasis	55384	MEG3	ORPHA:254531
HP:0011014	Abnormal glucose homeostasis	5092	PCBD1	ORPHA:1578
HP:0011014	Abnormal glucose homeostasis	6523	SLC5A1	OMIM:606824
HP:0011014	Abnormal glucose homeostasis	92840	REEP6	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6094	ROM1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6017	RLBP1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	7401	CLRN1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	24	ABCA4	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	130557	ZNF513	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	92211	CDHR1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	23568	ARL2BP	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6121	RPE65	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	54806	AHI1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6101	RP1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	3419	IDH3A	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	4751	NEK2	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	346007	EYS	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	8100	IFT88	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	23020	SNRNP200	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	762	CA4	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	138050	HGSNAT	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	196	AHR	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	3614	IMPDH1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	123016	TTC8	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6103	RPGR	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	1406	CRX	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5148	PDE6G	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	26121	PRPF31	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	4117	MAK	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	25794	FSCN2	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	375298	CERKL	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	3420	IDH3B	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	57670	KIAA1549	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	7275	TUB	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	24148	PRPF6	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	23418	CRB1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	10461	MERTK	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	57709	SLC7A14	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	768206	PRCD	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	7399	USH2A	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	23370	ARHGEF18	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5949	RBP3	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6010	RHO	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6100	RP9	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	10002	NR2E3	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	9227	LRAT	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	84140	FAM161A	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	55812	SPATA7	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	55624	POMGNT1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	79797	ZNF408	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	403	ARL3	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5145	PDE6A	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	10210	TOPORS	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	8842	PROM1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	9128	PRPF4	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	145226	RDH12	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	50939	IMPG2	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	8481	OFD1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	49855	SCAPER	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	9742	IFT140	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	2979	GUCA1B	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	1259	CNGA1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	1258	CNGB1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	60509	AGBL5	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5961	PRPH2	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	388939	PCARE	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	7439	BEST1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	9785	DHX38	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	7287	TULP1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5995	RGR	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	9129	PRPF3	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	55975	KLHL7	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	3617	IMPG1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	94137	RP1L1	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	5158	PDE6B	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6102	RP2	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	55857	KIZ	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	64218	SEMA4A	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	4901	NRL	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	157657	CFAP418	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	10594	PRPF8	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	6295	SAG	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	79947	DHDDS	ORPHA:791
HP:0011014	Abnormal glucose homeostasis	63036	CELA2A	OMIM:618620
HP:0011014	Abnormal glucose homeostasis	4160	MC4R	ORPHA:71529
HP:0011014	Abnormal glucose homeostasis	10908	PNPLA6	ORPHA:2377
HP:0011014	Abnormal glucose homeostasis	6804	STX1A	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	7461	CLIP2	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	84277	DNAJC30	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	8468	FKBP6	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	5982	RFC2	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	2969	GTF2I	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	3984	LIMK1	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	155382	VPS37D	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	155368	METTL27	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	114049	BUD23	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	7458	EIF4H	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	9275	BCL7B	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	26608	TBL2	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	653361	NCF1	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	135886	TMEM270	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	9031	BAZ1B	ORPHA:904
HP:0011014	Abnormal glucose homeostasis	3981	LIG4	ORPHA:99812
HP:0011014	Abnormal glucose homeostasis	3981	LIG4	OMIM:606593
HP:0011014	Abnormal glucose homeostasis	7681	MKRN3	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	3653	IPW	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	791114	PWRN1	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	100033413	SNORD116-1	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	8924	HERC2	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	145624	PWAR1	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	23742	NPAP1	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	338433	SNORD115-1	OMIM:176270
HP:0011014	Abnormal glucose homeostasis	6492	SIM1	ORPHA:398079
HP:0011014	Abnormal glucose homeostasis	1363	CPE	OMIM:619326
HP:0011014	Abnormal glucose homeostasis	23600	AMACR	ORPHA:79095
HP:0011014	Abnormal glucose homeostasis	5422	POLA1	ORPHA:163976
HP:0011014	Abnormal glucose homeostasis	1786	DNMT1	OMIM:604121
HP:0011014	Abnormal glucose homeostasis	11128	POLR3A	ORPHA:3455
HP:0011014	Abnormal glucose homeostasis	51218	GLRX5	OMIM:616860
HP:0011014	Abnormal glucose homeostasis	2200	FBN1	ORPHA:2833
HP:0011014	Abnormal glucose homeostasis	4340	MOG	OMIM:614250
HP:0011014	Abnormal glucose homeostasis	833	CARS1	OMIM:618891
HP:0011014	Abnormal glucose homeostasis	64788	LMF1	OMIM:246650
HP:0011014	Abnormal glucose homeostasis	5333	PLCD1	ORPHA:2387
HP:0011014	Abnormal glucose homeostasis	5116	PCNT	OMIM:210720
HP:0011014	Abnormal glucose homeostasis	25942	SIN3A	OMIM:613406
HP:0011014	Abnormal glucose homeostasis	5192	PEX10	ORPHA:247815
HP:0011014	Abnormal glucose homeostasis	367	AR	ORPHA:90797
HP:0011014	Abnormal glucose homeostasis	7555	CNBP	OMIM:602668
HP:0011014	Abnormal glucose homeostasis	60676	PAPPA2	OMIM:619489
HP:0011014	Abnormal glucose homeostasis	1027	CDKN1B	ORPHA:276152
HP:0011014	Abnormal glucose homeostasis	2260	FGFR1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	2260	FGFR1	ORPHA:3157
HP:0011014	Abnormal glucose homeostasis	28514	DLL1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	2253	FGF8	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	6496	SIX3	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	7050	TGIF1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	4838	NODAL	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	6469	SHH	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	51684	SUFU	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	7546	ZIC2	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	2619	GAS1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	84976	DISP1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	8928	FOXH1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	5727	PTCH1	ORPHA:280200
HP:0011014	Abnormal glucose homeostasis	2215	FCGR3B	ORPHA:464370
HP:0011014	Abnormal glucose homeostasis	8260	NAA10	OMIM:300855
HP:0011014	Abnormal glucose homeostasis	81839	VANGL1	ORPHA:3027
HP:0011014	Abnormal glucose homeostasis	80199	FUZ	ORPHA:3027
HP:0011014	Abnormal glucose homeostasis	4524	MTHFR	ORPHA:563612
HP:0011014	Abnormal glucose homeostasis	4524	MTHFR	ORPHA:563609
HP:0011014	Abnormal glucose homeostasis	57216	VANGL2	ORPHA:563612
HP:0011014	Abnormal glucose homeostasis	57216	VANGL2	ORPHA:563609
HP:0011014	Abnormal glucose homeostasis	1482	NKX2-5	ORPHA:2248
HP:0011014	Abnormal glucose homeostasis	6657	SOX2	ORPHA:3157
HP:0011014	Abnormal glucose homeostasis	9915	ARNT2	ORPHA:3157
HP:0011014	Abnormal glucose homeostasis	1280	COL2A1	ORPHA:93346
HP:0011014	Abnormal glucose homeostasis	2998	GYS2	ORPHA:2089
HP:0011014	Abnormal glucose homeostasis	2998	GYS2	OMIM:240600
HP:0011014	Abnormal glucose homeostasis	6514	SLC2A2	ORPHA:2088
HP:0011014	Abnormal glucose homeostasis	6514	SLC2A2	OMIM:227810
HP:0011014	Abnormal glucose homeostasis	6329	SCN4A	ORPHA:681
HP:0011014	Abnormal glucose homeostasis	779	CACNA1S	ORPHA:681
HP:0011014	Abnormal glucose homeostasis	779	CACNA1S	ORPHA:79102
HP:0011014	Abnormal glucose homeostasis	10008	KCNE3	ORPHA:681
HP:0011014	Abnormal glucose homeostasis	23729	SHPK	ORPHA:440713
HP:0011014	Abnormal glucose homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0011014	Abnormal glucose homeostasis	2556	GABRA3	ORPHA:79102
HP:0011014	Abnormal glucose homeostasis	2746	GLUD1	ORPHA:35878
HP:0011014	Abnormal glucose homeostasis	7351	UCP2	ORPHA:276556
HP:0011014	Abnormal glucose homeostasis	5122	PCSK1	OMIM:600955
HP:0011014	Abnormal glucose homeostasis	4221	MEN1	ORPHA:97279
HP:0011014	Abnormal glucose homeostasis	7528	YY1	ORPHA:97279
HP:0011014	Abnormal glucose homeostasis	229	ALDOB	ORPHA:469
HP:0011014	Abnormal glucose homeostasis	27034	ACAD8	ORPHA:79159
HP:0011014	Abnormal glucose homeostasis	35	ACADS	ORPHA:26792
HP:0011014	Abnormal glucose homeostasis	7490	WT1	OMIM:106210
HP:0011014	Abnormal glucose homeostasis	5080	PAX6	OMIM:106210
HP:0011014	Abnormal glucose homeostasis	2099	ESR1	OMIM:615363
HP:0011014	Abnormal glucose homeostasis	26160	IFT172	OMIM:615630
HP:0011014	Abnormal glucose homeostasis	389692	MAFA	OMIM:147630
HP:0011014	Abnormal glucose homeostasis	5696	PSMB8	OMIM:256040
HP:0011014	Abnormal glucose homeostasis	4040	LRP6	OMIM:610947
HP:0011014	Abnormal glucose homeostasis	4558	MT-TF	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4572	MT-TQ	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4512	MT-CO1	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4513	MT-CO2	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4514	MT-CO3	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4578	MT-TW	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4540	MT-ND5	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4541	MT-ND6	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4535	MT-ND1	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4538	MT-ND4	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4567	MT-TL1	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4574	MT-TS1	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4575	MT-TS2	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	4564	MT-TH	ORPHA:550
HP:0011014	Abnormal glucose homeostasis	6772	STAT1	ORPHA:391487
HP:0011014	Abnormal glucose homeostasis	10043	TOM1	ORPHA:391487
HP:0011014	Abnormal glucose homeostasis	23019	CNOT1	OMIM:618500
HP:0011014	Abnormal glucose homeostasis	10068	IL18BP	OMIM:618549
HP:0011014	Abnormal glucose homeostasis	2321	FLT1	ORPHA:275555
HP:0011014	Abnormal glucose homeostasis	219736	STOX1	ORPHA:275555
HP:0011014	Abnormal glucose homeostasis	10699	CORIN	ORPHA:275555
HP:0011014	Abnormal glucose homeostasis	987	LRBA	OMIM:614700
HP:0011014	Abnormal glucose homeostasis	50943	FOXP3	OMIM:304790
HP:0011014	Abnormal glucose homeostasis	50943	FOXP3	ORPHA:37042
HP:0011014	Abnormal glucose homeostasis	55315	SLC29A3	OMIM:602782
HP:0011014	Abnormal glucose homeostasis	60401	EDA2R	ORPHA:181
HP:0011014	Abnormal glucose homeostasis	1896	EDA	ORPHA:181
HP:0011014	Abnormal glucose homeostasis	83737	ITCH	OMIM:613385
HP:0011014	Abnormal glucose homeostasis	83737	ITCH	ORPHA:228426
HP:0011014	Abnormal glucose homeostasis	84340	GFM2	OMIM:618397
HP:0011014	Abnormal glucose homeostasis	50674	NEUROG3	ORPHA:83620
HP:0011014	Abnormal glucose homeostasis	51816	ADA2	OMIM:615688
HP:0011014	Abnormal glucose homeostasis	2542	SLC37A4	OMIM:619525
HP:0011014	Abnormal glucose homeostasis	7086	TKT	ORPHA:488618
HP:0011014	Abnormal glucose homeostasis	2859	GPR35	ORPHA:171
HP:0011014	Abnormal glucose homeostasis	10507	SEMA4D	ORPHA:171
HP:0011014	Abnormal glucose homeostasis	4485	MST1	ORPHA:171
HP:0011014	Abnormal glucose homeostasis	6925	TCF4	ORPHA:171
HP:0011014	Abnormal glucose homeostasis	326	AIRE	OMIM:240300
HP:0011014	Abnormal glucose homeostasis	1777	DNASE2	OMIM:619858
HP:0011014	Abnormal glucose homeostasis	10273	STUB1	ORPHA:412057
HP:0011014	Abnormal glucose homeostasis	284252	KCTD1	ORPHA:2036
HP:0011014	Abnormal glucose homeostasis	5297	PI4KA	ORPHA:436252
HP:0011014	Abnormal glucose homeostasis	57217	TTC7A	ORPHA:436252
HP:0011014	Abnormal glucose homeostasis	847	CAT	ORPHA:926
HP:0011014	Abnormal glucose homeostasis	3117	HLA-DQA1	OMIM:212750
HP:0011014	Abnormal glucose homeostasis	3119	HLA-DQB1	OMIM:212750
HP:0011014	Abnormal glucose homeostasis	9570	GOSR2	OMIM:620166
HP:0011014	Abnormal glucose homeostasis	4556	MT-TE	ORPHA:2596
HP:0011014	Abnormal glucose homeostasis	1854	DUT	OMIM:620044
HP:0011014	Abnormal glucose homeostasis	51311	TLR8	OMIM:301078
HP:0011014	Abnormal glucose homeostasis	4313	MMP2	ORPHA:371428
HP:0011014	Abnormal glucose homeostasis	4323	MMP14	ORPHA:371428
HP:0011014	Abnormal glucose homeostasis	857	CAV1	OMIM:606721
HP:0011014	Abnormal glucose homeostasis	5611	DNAJC3	OMIM:616192
HP:0011014	Abnormal glucose homeostasis	375056	MIA3	OMIM:619269
HP:0011014	Abnormal glucose homeostasis	9451	EIF2AK3	OMIM:226980
HP:0011014	Abnormal glucose homeostasis	23312	DMXL2	OMIM:616113
HP:0011014	Abnormal glucose homeostasis	9051	PSTPIP1	ORPHA:69126
HP:0011014	Abnormal glucose homeostasis	6688	SPI1	OMIM:619707
HP:0011014	Abnormal glucose homeostasis	3559	IL2RA	OMIM:606367
HP:0011014	Abnormal glucose homeostasis	1188	CLCNKB	ORPHA:358
HP:0011014	Abnormal glucose homeostasis	6559	SLC12A3	ORPHA:358
HP:0011015	Abnormal blood glucose concentration	1374	CPT1A	ORPHA:156
HP:0011015	Abnormal blood glucose concentration	1534	CYB561	OMIM:618182
HP:0011015	Abnormal blood glucose concentration	3376	IARS1	OMIM:617093
HP:0011015	Abnormal blood glucose concentration	54539	NDUFB11	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	25915	NDUFAF3	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	51103	NDUFAF1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	91942	NDUFAF2	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	51300	TIMMDC1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4716	NDUFB10	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4723	NDUFV1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	55572	FOXRED1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	55572	FOXRED1	OMIM:618241
HP:0011015	Abnormal blood glucose concentration	284184	NDUFAF8	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	55863	TMEM126B	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4535	MT-ND1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4537	MT-ND3	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4729	NDUFV2	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4694	NDUFA1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4720	NDUFS2	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4724	NDUFS4	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4724	NDUFS4	OMIM:252010
HP:0011015	Abnormal blood glucose concentration	4726	NDUFS6	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4728	NDUFS8	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4722	NDUFS3	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	79133	NDUFAF5	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	126328	NDUFA11	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4709	NDUFB3	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	80224	NUBPL	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	29078	NDUFAF4	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	374291	NDUFS7	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4700	NDUFA6	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4700	NDUFA6	OMIM:618253
HP:0011015	Abnormal blood glucose concentration	4536	MT-ND2	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4719	NDUFS1	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	4715	NDUFB9	ORPHA:2609
HP:0011015	Abnormal blood glucose concentration	25821	MTO1	OMIM:614702
HP:0011015	Abnormal blood glucose concentration	23417	MLYCD	OMIM:248360
HP:0011015	Abnormal blood glucose concentration	283120	H19	ORPHA:231140
HP:0011015	Abnormal blood glucose concentration	3158	HMGCS2	ORPHA:35701
HP:0011015	Abnormal blood glucose concentration	6341	SCO1	OMIM:619048
HP:0011015	Abnormal blood glucose concentration	5015	OTX2	OMIM:613986
HP:0011015	Abnormal blood glucose concentration	5015	OTX2	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	55163	PNPO	ORPHA:79096
HP:0011015	Abnormal blood glucose concentration	55163	PNPO	OMIM:610090
HP:0011015	Abnormal blood glucose concentration	1738	DLD	ORPHA:2394
HP:0011015	Abnormal blood glucose concentration	1738	DLD	OMIM:246900
HP:0011015	Abnormal blood glucose concentration	100131801	PET100	OMIM:619055
HP:0011015	Abnormal blood glucose concentration	36	ACADSB	OMIM:610006
HP:0011015	Abnormal blood glucose concentration	64087	MCCC2	OMIM:210210
HP:0011015	Abnormal blood glucose concentration	64087	MCCC2	ORPHA:6
HP:0011015	Abnormal blood glucose concentration	501	ALDH7A1	ORPHA:3006
HP:0011015	Abnormal blood glucose concentration	11212	PLPBP	ORPHA:3006
HP:0011015	Abnormal blood glucose concentration	2697	GJA1	ORPHA:2710
HP:0011015	Abnormal blood glucose concentration	1716	DGUOK	OMIM:251880
HP:0011015	Abnormal blood glucose concentration	5095	PCCA	OMIM:606054
HP:0011015	Abnormal blood glucose concentration	5095	PCCA	ORPHA:35
HP:0011015	Abnormal blood glucose concentration	5096	PCCB	OMIM:606054
HP:0011015	Abnormal blood glucose concentration	5096	PCCB	ORPHA:35
HP:0011015	Abnormal blood glucose concentration	8802	SUCLG1	OMIM:245400
HP:0011015	Abnormal blood glucose concentration	8802	SUCLG1	ORPHA:17
HP:0011015	Abnormal blood glucose concentration	2688	GH1	OMIM:262400
HP:0011015	Abnormal blood glucose concentration	5528	PPP2R5D	OMIM:616355
HP:0011015	Abnormal blood glucose concentration	5528	PPP2R5D	ORPHA:457279
HP:0011015	Abnormal blood glucose concentration	23312	DMXL2	OMIM:616113
HP:0011015	Abnormal blood glucose concentration	23312	DMXL2	ORPHA:453533
HP:0011015	Abnormal blood glucose concentration	132158	GLYCTK	OMIM:220120
HP:0011015	Abnormal blood glucose concentration	790955	UQCC3	OMIM:616111
HP:0011015	Abnormal blood glucose concentration	55065	SLC52A1	OMIM:615026
HP:0011015	Abnormal blood glucose concentration	84342	COG8	ORPHA:95428
HP:0011015	Abnormal blood glucose concentration	56922	MCCC1	OMIM:210200
HP:0011015	Abnormal blood glucose concentration	56922	MCCC1	ORPHA:6
HP:0011015	Abnormal blood glucose concentration	84947	SERAC1	OMIM:614739
HP:0011015	Abnormal blood glucose concentration	3265	HRAS	OMIM:218040
HP:0011015	Abnormal blood glucose concentration	129563	DIS3L2	OMIM:267000
HP:0011015	Abnormal blood glucose concentration	4953	ODC1	OMIM:619075
HP:0011015	Abnormal blood glucose concentration	5091	PC	OMIM:266150
HP:0011015	Abnormal blood glucose concentration	1621	DBH	ORPHA:230
HP:0011015	Abnormal blood glucose concentration	51594	NBAS	OMIM:616483
HP:0011015	Abnormal blood glucose concentration	5447	POR	OMIM:201750
HP:0011015	Abnormal blood glucose concentration	1629	DBT	OMIM:248600
HP:0011015	Abnormal blood glucose concentration	593	BCKDHA	OMIM:248600
HP:0011015	Abnormal blood glucose concentration	594	BCKDHB	OMIM:248600
HP:0011015	Abnormal blood glucose concentration	8879	SGPL1	OMIM:617575
HP:0011015	Abnormal blood glucose concentration	3028	HSD17B10	OMIM:300438
HP:0011015	Abnormal blood glucose concentration	3028	HSD17B10	ORPHA:391428
HP:0011015	Abnormal blood glucose concentration	5255	PHKA1	OMIM:300559
HP:0011015	Abnormal blood glucose concentration	51660	MPC1	OMIM:614741
HP:0011015	Abnormal blood glucose concentration	89884	LHX4	ORPHA:226307
HP:0011015	Abnormal blood glucose concentration	89884	LHX4	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	89884	LHX4	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	89884	LHX4	OMIM:262700
HP:0011015	Abnormal blood glucose concentration	8022	LHX3	ORPHA:226307
HP:0011015	Abnormal blood glucose concentration	5449	POU1F1	ORPHA:226307
HP:0011015	Abnormal blood glucose concentration	5449	POU1F1	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	8820	HESX1	ORPHA:226307
HP:0011015	Abnormal blood glucose concentration	8820	HESX1	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	8820	HESX1	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	7381	UQCRB	OMIM:615158
HP:0011015	Abnormal blood glucose concentration	4519	MT-CYB	ORPHA:137675
HP:0011015	Abnormal blood glucose concentration	79753	SNIP1	OMIM:614501
HP:0011015	Abnormal blood glucose concentration	5836	PYGL	OMIM:232700
HP:0011015	Abnormal blood glucose concentration	5836	PYGL	ORPHA:369
HP:0011015	Abnormal blood glucose concentration	5728	PTEN	ORPHA:109
HP:0011015	Abnormal blood glucose concentration	10056	FARSB	OMIM:613658
HP:0011015	Abnormal blood glucose concentration	128674	PROKR2	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	55717	WDR11	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	6091	ROBO1	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	50937	CDON	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	23432	GPR161	ORPHA:95496
HP:0011015	Abnormal blood glucose concentration	2736	GLI2	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	3170	FOXA2	ORPHA:95494
HP:0011015	Abnormal blood glucose concentration	7385	UQCRC2	OMIM:615160
HP:0011015	Abnormal blood glucose concentration	2908	NR3C1	OMIM:615962
HP:0011015	Abnormal blood glucose concentration	2908	NR3C1	ORPHA:786
HP:0011015	Abnormal blood glucose concentration	1028	CDKN1C	ORPHA:397590
HP:0011015	Abnormal blood glucose concentration	5324	PLAG1	ORPHA:397590
HP:0011015	Abnormal blood glucose concentration	8091	HMGA2	ORPHA:397590
HP:0011015	Abnormal blood glucose concentration	471	ATIC	OMIM:608688
HP:0011015	Abnormal blood glucose concentration	1962	EHHADH	ORPHA:3337
HP:0011015	Abnormal blood glucose concentration	2628	GATM	ORPHA:3337
HP:0011015	Abnormal blood glucose concentration	137682	NDUFAF6	ORPHA:3337
HP:0011015	Abnormal blood glucose concentration	6569	SLC34A1	ORPHA:3337
HP:0011015	Abnormal blood glucose concentration	34	ACADM	ORPHA:42
HP:0011015	Abnormal blood glucose concentration	34	ACADM	OMIM:201450
HP:0011015	Abnormal blood glucose concentration	775	CACNA1C	OMIM:601005
HP:0011015	Abnormal blood glucose concentration	7030	TFE3	OMIM:301066
HP:0011015	Abnormal blood glucose concentration	2239	GPC4	ORPHA:373
HP:0011015	Abnormal blood glucose concentration	2719	GPC3	ORPHA:373
HP:0011015	Abnormal blood glucose concentration	54941	RNF125	OMIM:616260
HP:0011015	Abnormal blood glucose concentration	125988	MICOS13	OMIM:618329
HP:0011015	Abnormal blood glucose concentration	8565	YARS1	OMIM:619418
HP:0011015	Abnormal blood glucose concentration	2184	FAH	OMIM:276700
HP:0011015	Abnormal blood glucose concentration	178	AGL	ORPHA:366
HP:0011015	Abnormal blood glucose concentration	178	AGL	OMIM:232400
HP:0011015	Abnormal blood glucose concentration	197322	ACSF3	ORPHA:289504
HP:0011015	Abnormal blood glucose concentration	6658	SOX3	ORPHA:90695
HP:0011015	Abnormal blood glucose concentration	3479	IGF1	ORPHA:73272
HP:0011015	Abnormal blood glucose concentration	91949	COG7	OMIM:608779
HP:0011015	Abnormal blood glucose concentration	763	CA5A	OMIM:615751
HP:0011015	Abnormal blood glucose concentration	2690	GHR	ORPHA:314802
HP:0011015	Abnormal blood glucose concentration	2690	GHR	ORPHA:633
HP:0011015	Abnormal blood glucose concentration	5009	OTC	ORPHA:664
HP:0011015	Abnormal blood glucose concentration	549	AUH	ORPHA:67046
HP:0011015	Abnormal blood glucose concentration	10525	HYOU1	OMIM:233600
HP:0011015	Abnormal blood glucose concentration	2710	GK	OMIM:307030
HP:0011015	Abnormal blood glucose concentration	2592	GALT	ORPHA:79239
HP:0011015	Abnormal blood glucose concentration	2530	FUT8	OMIM:618005
HP:0011015	Abnormal blood glucose concentration	51116	MRPS2	OMIM:617950
HP:0011015	Abnormal blood glucose concentration	513	ATP5F1D	OMIM:618120
HP:0011015	Abnormal blood glucose concentration	7019	TFAM	OMIM:617156
HP:0011015	Abnormal blood glucose concentration	10352	WARS2	OMIM:617710
HP:0011015	Abnormal blood glucose concentration	4594	MMUT	OMIM:251000
HP:0011015	Abnormal blood glucose concentration	538	ATP7A	ORPHA:565
HP:0011015	Abnormal blood glucose concentration	9971	NR1H4	OMIM:617049
HP:0011015	Abnormal blood glucose concentration	2475	MTOR	OMIM:616638
HP:0011015	Abnormal blood glucose concentration	2584	GALK1	ORPHA:79237
HP:0011015	Abnormal blood glucose concentration	1589	CYP21A2	OMIM:201910
HP:0011015	Abnormal blood glucose concentration	51241	COX16	OMIM:619355
HP:0011015	Abnormal blood glucose concentration	54809	SAMD9	OMIM:617053
HP:0011015	Abnormal blood glucose concentration	9150	CTDP1	ORPHA:48431
HP:0011015	Abnormal blood glucose concentration	80036	TRPM3	OMIM:620224
HP:0011015	Abnormal blood glucose concentration	5106	PCK2	OMIM:261650
HP:0011015	Abnormal blood glucose concentration	55278	QRSL1	OMIM:618835
HP:0011015	Abnormal blood glucose concentration	28957	MRPS28	OMIM:618958
HP:0011015	Abnormal blood glucose concentration	5188	GATB	OMIM:618838
HP:0011015	Abnormal blood glucose concentration	93587	TRMT10A	ORPHA:391408
HP:0011015	Abnormal blood glucose concentration	3030	HADHA	OMIM:609016
HP:0011015	Abnormal blood glucose concentration	3030	HADHA	ORPHA:5
HP:0011015	Abnormal blood glucose concentration	283459	GATC	OMIM:618839
HP:0011015	Abnormal blood glucose concentration	5495	PPM1B	ORPHA:163693
HP:0011015	Abnormal blood glucose concentration	6519	SLC3A1	ORPHA:163693
HP:0011015	Abnormal blood glucose concentration	9581	PREPL	ORPHA:163693
HP:0011015	Abnormal blood glucose concentration	79823	CAMKMT	ORPHA:163693
HP:0011015	Abnormal blood glucose concentration	55252	ASXL2	OMIM:617190
HP:0011015	Abnormal blood glucose concentration	51081	MRPS7	OMIM:617872
HP:0011015	Abnormal blood glucose concentration	5236	PGM1	OMIM:614921
HP:0011015	Abnormal blood glucose concentration	25974	MMACHC	ORPHA:79282
HP:0011015	Abnormal blood glucose concentration	1968	EIF2S3	OMIM:300148
HP:0011015	Abnormal blood glucose concentration	9054	NFS1	OMIM:619386
HP:0011015	Abnormal blood glucose concentration	7388	UQCRH	OMIM:620137
HP:0011015	Abnormal blood glucose concentration	2693	GHSR	ORPHA:314811
HP:0011015	Abnormal blood glucose concentration	2108	ETFA	OMIM:231680
HP:0011015	Abnormal blood glucose concentration	2109	ETFB	OMIM:231680
HP:0011015	Abnormal blood glucose concentration	2110	ETFDH	OMIM:231680
HP:0011015	Abnormal blood glucose concentration	1376	CPT2	OMIM:608836
HP:0011015	Abnormal blood glucose concentration	3155	HMGCL	ORPHA:20
HP:0011015	Abnormal blood glucose concentration	5979	RET	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	8516	ITGA8	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	26281	FGF20	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	2674	GFRA1	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	7484	WNT9B	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	80000	GREB1L	ORPHA:1848
HP:0011015	Abnormal blood glucose concentration	28976	ACAD9	ORPHA:99901
HP:0011015	Abnormal blood glucose concentration	37	ACADVL	OMIM:201475
HP:0011015	Abnormal blood glucose concentration	3032	HADHB	ORPHA:746
HP:0011015	Abnormal blood glucose concentration	22845	DOLK	OMIM:610768
HP:0011015	Abnormal blood glucose concentration	4791	NFKB2	ORPHA:293978
HP:0011015	Abnormal blood glucose concentration	5058	PAK1	OMIM:618158
HP:0011015	Abnormal blood glucose concentration	4665	NAB2	ORPHA:2126
HP:0011015	Abnormal blood glucose concentration	6778	STAT6	ORPHA:2126
HP:0011015	Abnormal blood glucose concentration	4358	MPV17	OMIM:256810
HP:0011015	Abnormal blood glucose concentration	84919	PPP1R15B	OMIM:616817
HP:0011015	Abnormal blood glucose concentration	79087	ALG12	ORPHA:79324
HP:0011015	Abnormal blood glucose concentration	6584	SLC22A5	OMIM:212140
HP:0011015	Abnormal blood glucose concentration	8925	HERC1	ORPHA:457359
HP:0011015	Abnormal blood glucose concentration	84340	GFM2	ORPHA:565624
HP:0011015	Abnormal blood glucose concentration	51422	PRKAG2	OMIM:261740
HP:0011015	Abnormal blood glucose concentration	64324	NSD1	OMIM:117550
HP:0011015	Abnormal blood glucose concentration	64324	NSD1	ORPHA:821
HP:0011015	Abnormal blood glucose concentration	10984	KCNQ1OT1	OMIM:130650
HP:0011015	Abnormal blood glucose concentration	3784	KCNQ1	OMIM:130650
HP:0011015	Abnormal blood glucose concentration	131118	DNAJC19	ORPHA:66634
HP:0011015	Abnormal blood glucose concentration	1583	CYP11A1	ORPHA:168558
HP:0011015	Abnormal blood glucose concentration	1583	CYP11A1	ORPHA:289548
HP:0011015	Abnormal blood glucose concentration	81570	CLPB	ORPHA:445038
HP:0011015	Abnormal blood glucose concentration	81570	CLPB	OMIM:616271
HP:0011015	Abnormal blood glucose concentration	29072	SETD2	ORPHA:821
HP:0011015	Abnormal blood glucose concentration	10297	APC2	ORPHA:821
HP:0011015	Abnormal blood glucose concentration	10943	MSL3	OMIM:301032
HP:0011015	Abnormal blood glucose concentration	8567	MADD	OMIM:619004
HP:0011015	Abnormal blood glucose concentration	7403	KDM6A	OMIM:300867
HP:0011015	Abnormal blood glucose concentration	1352	COX10	OMIM:619046
HP:0011015	Abnormal blood glucose concentration	10682	EBP	ORPHA:35173
HP:0011015	Abnormal blood glucose concentration	23152	CIC	OMIM:617600
HP:0011015	Abnormal blood glucose concentration	27429	HTRA2	OMIM:617248
HP:0011015	Abnormal blood glucose concentration	3284	HSD3B2	ORPHA:90791
HP:0011015	Abnormal blood glucose concentration	3767	KCNJ11	ORPHA:276580
HP:0011015	Abnormal blood glucose concentration	2645	GCK	OMIM:602485
HP:0011015	Abnormal blood glucose concentration	56246	MRAP	ORPHA:361
HP:0011015	Abnormal blood glucose concentration	6770	STAR	ORPHA:361
HP:0011015	Abnormal blood glucose concentration	4158	MC2R	ORPHA:361
HP:0011015	Abnormal blood glucose concentration	23530	NNT	ORPHA:361
HP:0011015	Abnormal blood glucose concentration	10587	TXNRD2	ORPHA:361
HP:0011015	Abnormal blood glucose concentration	3643	INSR	OMIM:609968
HP:0011015	Abnormal blood glucose concentration	9095	TBX19	ORPHA:199296
HP:0011015	Abnormal blood glucose concentration	5443	POMC	OMIM:609734
HP:0011015	Abnormal blood glucose concentration	5443	POMC	ORPHA:71526
HP:0011015	Abnormal blood glucose concentration	6927	HNF1A	ORPHA:324575
HP:0011015	Abnormal blood glucose concentration	5626	PROP1	OMIM:262600
HP:0011015	Abnormal blood glucose concentration	23126	POGZ	OMIM:616364
HP:0011015	Abnormal blood glucose concentration	3033	HADH	OMIM:231530
HP:0011015	Abnormal blood glucose concentration	3033	HADH	ORPHA:71212
HP:0011015	Abnormal blood glucose concentration	3033	HADH	OMIM:609975
HP:0011015	Abnormal blood glucose concentration	5122	PCSK1	ORPHA:71528
HP:0011015	Abnormal blood glucose concentration	6566	SLC16A1	OMIM:610021
HP:0011015	Abnormal blood glucose concentration	7351	UCP2	ORPHA:276556
HP:0011015	Abnormal blood glucose concentration	208	AKT2	ORPHA:293964
HP:0011015	Abnormal blood glucose concentration	6833	ABCC8	OMIM:256450
HP:0011015	Abnormal blood glucose concentration	6833	ABCC8	ORPHA:276575
HP:0011015	Abnormal blood glucose concentration	55186	SLC25A36	OMIM:620211
HP:0011015	Abnormal blood glucose concentration	2746	GLUD1	OMIM:606762
HP:0011015	Abnormal blood glucose concentration	128989	TANGO2	ORPHA:480864
HP:0011015	Abnormal blood glucose concentration	2542	SLC37A4	ORPHA:79259
HP:0011015	Abnormal blood glucose concentration	8462	KLF11	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	26060	APPL1	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	640	BLK	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	1056	CEL	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	1056	CEL	OMIM:609812
HP:0011015	Abnormal blood glucose concentration	4760	NEUROD1	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	3651	PDX1	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	3651	PDX1	ORPHA:99885
HP:0011015	Abnormal blood glucose concentration	5078	PAX4	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	3172	HNF4A	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	3630	INS	ORPHA:552
HP:0011015	Abnormal blood glucose concentration	3630	INS	OMIM:613370
HP:0011015	Abnormal blood glucose concentration	3630	INS	OMIM:616214
HP:0011015	Abnormal blood glucose concentration	3630	INS	ORPHA:99885
HP:0011015	Abnormal blood glucose concentration	3630	INS	OMIM:618858
HP:0011015	Abnormal blood glucose concentration	10128	LRPPRC	OMIM:220111
HP:0011015	Abnormal blood glucose concentration	10269	ZMPSTE24	OMIM:608612
HP:0011015	Abnormal blood glucose concentration	2737	GLI3	OMIM:175700
HP:0011015	Abnormal blood glucose concentration	222546	RFX6	OMIM:615710
HP:0011015	Abnormal blood glucose concentration	3795	KHK	ORPHA:2056
HP:0011015	Abnormal blood glucose concentration	79798	ARMC5	OMIM:615954
HP:0011015	Abnormal blood glucose concentration	256297	PTF1A	OMIM:609069
HP:0011015	Abnormal blood glucose concentration	2627	GATA6	OMIM:600001
HP:0011015	Abnormal blood glucose concentration	57061	HYMAI	OMIM:601410
HP:0011015	Abnormal blood glucose concentration	57061	HYMAI	ORPHA:99886
HP:0011015	Abnormal blood glucose concentration	346171	ZFP57	OMIM:601410
HP:0011015	Abnormal blood glucose concentration	346171	ZFP57	ORPHA:99886
HP:0011015	Abnormal blood glucose concentration	27125	AFF4	ORPHA:444077
HP:0011015	Abnormal blood glucose concentration	5468	PPARG	OMIM:604367
HP:0011015	Abnormal blood glucose concentration	25970	SH2B1	ORPHA:329249
HP:0011015	Abnormal blood glucose concentration	5167	ENPP1	OMIM:615522
HP:0011015	Abnormal blood glucose concentration	4000	LMNA	OMIM:248370
HP:0011015	Abnormal blood glucose concentration	4000	LMNA	OMIM:151660
HP:0011015	Abnormal blood glucose concentration	4000	LMNA	ORPHA:79474
HP:0011015	Abnormal blood glucose concentration	10342	TFG	OMIM:604484
HP:0011015	Abnormal blood glucose concentration	79731	NARS2	ORPHA:79134
HP:0011015	Abnormal blood glucose concentration	6774	STAT3	ORPHA:99885
HP:0011015	Abnormal blood glucose concentration	617	BCS1L	OMIM:124000
HP:0011015	Abnormal blood glucose concentration	5325	PLAGL1	ORPHA:99886
HP:0011015	Abnormal blood glucose concentration	38	ACAT1	ORPHA:134
HP:0011015	Abnormal blood glucose concentration	5295	PIK3R1	OMIM:269880
HP:0011015	Abnormal blood glucose concentration	6524	SLC5A2	ORPHA:69076
HP:0011015	Abnormal blood glucose concentration	1537	CYC1	OMIM:615453
HP:0011015	Abnormal blood glucose concentration	9692	PRORP	OMIM:619737
HP:0011015	Abnormal blood glucose concentration	9149	DYRK1B	OMIM:615812
HP:0011015	Abnormal blood glucose concentration	654	BMP6	ORPHA:465508
HP:0011015	Abnormal blood glucose concentration	3077	HFE	ORPHA:465508
HP:0011015	Abnormal blood glucose concentration	9699	RIMS2	OMIM:618970
HP:0011015	Abnormal blood glucose concentration	26191	PTPN22	OMIM:222100
HP:0011015	Abnormal blood glucose concentration	3710	ITPR3	OMIM:222100
HP:0011015	Abnormal blood glucose concentration	3569	IL6	OMIM:222100
HP:0011015	Abnormal blood glucose concentration	27241	BBS9	OMIM:615986
HP:0011015	Abnormal blood glucose concentration	2639	GCDH	ORPHA:25
HP:0011015	Abnormal blood glucose concentration	6505	SLC1A1	OMIM:222730
HP:0011015	Abnormal blood glucose concentration	5105	PCK1	OMIM:261680
HP:0011015	Abnormal blood glucose concentration	2538	G6PC1	OMIM:232200
HP:0011015	Abnormal blood glucose concentration	55699	IARS2	ORPHA:436174
HP:0011015	Abnormal blood glucose concentration	3481	IGF2	OMIM:180860
HP:0011015	Abnormal blood glucose concentration	2203	FBP1	ORPHA:348
HP:0011015	Abnormal blood glucose concentration	2887	GRB10	ORPHA:96182
HP:0011015	Abnormal blood glucose concentration	6514	SLC2A2	OMIM:227810
HP:0011015	Abnormal blood glucose concentration	6514	SLC2A2	ORPHA:2088
HP:0011015	Abnormal blood glucose concentration	5256	PHKA2	ORPHA:264580
HP:0011015	Abnormal blood glucose concentration	5261	PHKG2	ORPHA:264580
HP:0011015	Abnormal blood glucose concentration	5261	PHKG2	OMIM:613027
HP:0011015	Abnormal blood glucose concentration	79048	SECISBP2	ORPHA:171706
HP:0011015	Abnormal blood glucose concentration	788	SLC25A20	ORPHA:159
HP:0011015	Abnormal blood glucose concentration	6329	SCN4A	ORPHA:681
HP:0011015	Abnormal blood glucose concentration	779	CACNA1S	ORPHA:681
HP:0011015	Abnormal blood glucose concentration	779	CACNA1S	ORPHA:79102
HP:0011015	Abnormal blood glucose concentration	10008	KCNE3	ORPHA:681
HP:0011015	Abnormal blood glucose concentration	23729	SHPK	ORPHA:440713
HP:0011015	Abnormal blood glucose concentration	100134444	KCNJ18	ORPHA:79102
HP:0011015	Abnormal blood glucose concentration	2556	GABRA3	ORPHA:79102
HP:0011015	Abnormal blood glucose concentration	4221	MEN1	ORPHA:97279
HP:0011015	Abnormal blood glucose concentration	7528	YY1	ORPHA:97279
HP:0011015	Abnormal blood glucose concentration	229	ALDOB	ORPHA:469
HP:0011015	Abnormal blood glucose concentration	2998	GYS2	ORPHA:2089
HP:0011015	Abnormal blood glucose concentration	5257	PHKB	ORPHA:79240
HP:0011015	Abnormal blood glucose concentration	27034	ACAD8	ORPHA:79159
HP:0011015	Abnormal blood glucose concentration	35	ACADS	ORPHA:26792
HP:0003076	Glycosuria	3767	KCNJ11	ORPHA:552
HP:0003076	Glycosuria	3767	KCNJ11	ORPHA:99885
HP:0003076	Glycosuria	8462	KLF11	ORPHA:552
HP:0003076	Glycosuria	2645	GCK	ORPHA:552
HP:0003076	Glycosuria	2645	GCK	ORPHA:99885
HP:0003076	Glycosuria	26060	APPL1	ORPHA:552
HP:0003076	Glycosuria	640	BLK	ORPHA:552
HP:0003076	Glycosuria	1056	CEL	ORPHA:552
HP:0003076	Glycosuria	4760	NEUROD1	ORPHA:552
HP:0003076	Glycosuria	3651	PDX1	ORPHA:552
HP:0003076	Glycosuria	3651	PDX1	ORPHA:99885
HP:0003076	Glycosuria	6833	ABCC8	ORPHA:552
HP:0003076	Glycosuria	6833	ABCC8	OMIM:618857
HP:0003076	Glycosuria	6833	ABCC8	ORPHA:99885
HP:0003076	Glycosuria	5078	PAX4	ORPHA:552
HP:0003076	Glycosuria	3172	HNF4A	ORPHA:552
HP:0003076	Glycosuria	3172	HNF4A	OMIM:616026
HP:0003076	Glycosuria	3172	HNF4A	ORPHA:263455
HP:0003076	Glycosuria	6927	HNF1A	ORPHA:552
HP:0003076	Glycosuria	3630	INS	ORPHA:552
HP:0003076	Glycosuria	3630	INS	ORPHA:99885
HP:0003076	Glycosuria	1497	CTNS	OMIM:219800
HP:0003076	Glycosuria	1497	CTNS	ORPHA:411629
HP:0003076	Glycosuria	1497	CTNS	ORPHA:411634
HP:0003076	Glycosuria	6524	SLC5A2	ORPHA:69076
HP:0003076	Glycosuria	6524	SLC5A2	OMIM:233100
HP:0003076	Glycosuria	5076	PAX2	ORPHA:97362
HP:0003076	Glycosuria	5087	PBX1	ORPHA:97362
HP:0003076	Glycosuria	286053	NSMCE2	OMIM:617253
HP:0003076	Glycosuria	229	ALDOB	OMIM:229600
HP:0003076	Glycosuria	4574	MT-TS1	OMIM:220110
HP:0003076	Glycosuria	4570	MT-TN	OMIM:220110
HP:0003076	Glycosuria	6834	SURF1	OMIM:220110
HP:0003076	Glycosuria	50484	RRM2B	OMIM:268315
HP:0003076	Glycosuria	6928	HNF1B	OMIM:137920
HP:0003076	Glycosuria	84334	COA8	ORPHA:436271
HP:0003076	Glycosuria	1184	CLCN5	OMIM:308990
HP:0003076	Glycosuria	1184	CLCN5	OMIM:300009
HP:0003076	Glycosuria	5277	PIGA	ORPHA:447
HP:0003076	Glycosuria	6523	SLC5A1	OMIM:606824
HP:0003076	Glycosuria	2627	GATA6	OMIM:600001
HP:0003076	Glycosuria	6514	SLC2A2	OMIM:227810
HP:0003076	Glycosuria	6514	SLC2A2	ORPHA:2088
HP:0003076	Glycosuria	2628	GATM	OMIM:134600
HP:0003076	Glycosuria	2628	GATM	ORPHA:3337
HP:0003076	Glycosuria	137682	NDUFAF6	OMIM:618913
HP:0003076	Glycosuria	137682	NDUFAF6	ORPHA:3337
HP:0003076	Glycosuria	6569	SLC34A1	OMIM:613388
HP:0003076	Glycosuria	6569	SLC34A1	ORPHA:3337
HP:0003076	Glycosuria	57570	TRMT5	OMIM:616539
HP:0003076	Glycosuria	2998	GYS2	ORPHA:2089
HP:0003076	Glycosuria	63894	VIPAS39	OMIM:613404
HP:0003076	Glycosuria	387700	SLC16A12	OMIM:612018
HP:0003076	Glycosuria	4000	LMNA	ORPHA:79474
HP:0003076	Glycosuria	1962	EHHADH	OMIM:615605
HP:0003076	Glycosuria	1962	EHHADH	ORPHA:3337
HP:0003076	Glycosuria	540	ATP7B	OMIM:277900
HP:0003076	Glycosuria	2108	ETFA	OMIM:231680
HP:0003076	Glycosuria	2109	ETFB	OMIM:231680
HP:0003076	Glycosuria	2110	ETFDH	OMIM:231680
HP:0003076	Glycosuria	6774	STAT3	ORPHA:99885
HP:0003076	Glycosuria	22909	FAN1	OMIM:614817
HP:0011018	Abnormality of the cell cycle	2177	FANCD2	OMIM:227646
HP:0011018	Abnormality of the cell cycle	2176	FANCC	OMIM:227645
HP:0011018	Abnormality of the cell cycle	2178	FANCE	OMIM:600901
HP:0011018	Abnormality of the cell cycle	2175	FANCA	OMIM:227650
HP:0011019	Abnormality of chromosome condensation	79648	MCPH1	OMIM:251200
HP:0005599	Hypopigmentation of hair	63915	BLOC1S5	OMIM:619172
HP:0005599	Hypopigmentation of hair	57724	EPG5	OMIM:242840
HP:0005599	Hypopigmentation of hair	7299	TYR	OMIM:606952
HP:0005599	Hypopigmentation of hair	7299	TYR	OMIM:203100
HP:0005599	Hypopigmentation of hair	7299	TYR	ORPHA:79431
HP:0005599	Hypopigmentation of hair	7299	TYR	ORPHA:79434
HP:0005599	Hypopigmentation of hair	8943	AP3D1	OMIM:617050
HP:0005599	Hypopigmentation of hair	83938	LRMDA	OMIM:615179
HP:0005599	Hypopigmentation of hair	11152	WDR45	OMIM:615179
HP:0005599	Hypopigmentation of hair	4948	OCA2	OMIM:203200
HP:0005599	Hypopigmentation of hair	4157	MC1R	OMIM:203200
HP:0005599	Hypopigmentation of hair	3257	HPS1	OMIM:203300
HP:0005599	Hypopigmentation of hair	51151	SLC45A2	OMIM:606574
HP:0005599	Hypopigmentation of hair	51151	SLC45A2	ORPHA:79435
HP:0005599	Hypopigmentation of hair	8546	AP3B1	OMIM:608233
HP:0005599	Hypopigmentation of hair	1910	EDNRB	OMIM:600501
HP:0005599	Hypopigmentation of hair	89781	HPS4	OMIM:614073
HP:0005599	Hypopigmentation of hair	11234	HPS5	OMIM:614074
HP:0005599	Hypopigmentation of hair	778	CACNA1F	OMIM:300600
HP:0005599	Hypopigmentation of hair	4286	MITF	OMIM:193510
HP:0005599	Hypopigmentation of hair	84343	HPS3	OMIM:614072
HP:0005599	Hypopigmentation of hair	7306	TYRP1	OMIM:203290
HP:0005599	Hypopigmentation of hair	388552	BLOC1S3	OMIM:614077
HP:0005599	Hypopigmentation of hair	79803	HPS6	OMIM:614075
HP:0005599	Hypopigmentation of hair	84062	DTNBP1	OMIM:614076
HP:0005599	Hypopigmentation of hair	7486	WRN	ORPHA:902
HP:0005599	Hypopigmentation of hair	5184	PEPD	ORPHA:742
HP:0005599	Hypopigmentation of hair	7020	TFAP2A	OMIM:113620
HP:0005599	Hypopigmentation of hair	4000	LMNA	ORPHA:79474
HP:0005599	Hypopigmentation of hair	7015	TERT	OMIM:613989
HP:0005599	Hypopigmentation of hair	25778	DSTYK	ORPHA:101003
HP:0005599	Hypopigmentation of hair	5573	PRKAR1A	ORPHA:280651
HP:0005599	Hypopigmentation of hair	5144	PDE4D	ORPHA:280651
HP:0005599	Hypopigmentation of hair	5144	PDE4D	OMIM:614613
HP:0005599	Hypopigmentation of hair	23556	PIGN	ORPHA:280633
HP:0005599	Hypopigmentation of hair	197131	UBR1	OMIM:243800
HP:0005599	Hypopigmentation of hair	284058	KANSL1	ORPHA:363965
HP:0005599	Hypopigmentation of hair	284058	KANSL1	ORPHA:363958
HP:0005599	Hypopigmentation of hair	284058	KANSL1	OMIM:610443
HP:0005599	Hypopigmentation of hair	9742	IFT140	OMIM:266920
HP:0005599	Hypopigmentation of hair	26503	SLC17A5	OMIM:269920
HP:0005599	Hypopigmentation of hair	283652	SLC24A5	OMIM:113750
HP:0005599	Hypopigmentation of hair	6023	RMRP	OMIM:250250
HP:0005599	Hypopigmentation of hair	6901	TAFAZZIN	OMIM:302060
HP:0005599	Hypopigmentation of hair	7841	MOGS	ORPHA:79330
HP:0005599	Hypopigmentation of hair	8626	TP63	OMIM:103285
HP:0005599	Hypopigmentation of hair	8626	TP63	OMIM:604292
HP:0005599	Hypopigmentation of hair	20	ABCA2	OMIM:618808
HP:0005599	Hypopigmentation of hair	355	FAS	ORPHA:3437
HP:0005599	Hypopigmentation of hair	26191	PTPN22	ORPHA:3437
HP:0005599	Hypopigmentation of hair	54499	TMCO1	OMIM:213980
HP:0005599	Hypopigmentation of hair	1497	CTNS	OMIM:219800
HP:0005599	Hypopigmentation of hair	1186	CLCN7	OMIM:618541
HP:0005599	Hypopigmentation of hair	2261	FGFR3	ORPHA:53271
HP:0005599	Hypopigmentation of hair	7681	MKRN3	OMIM:176270
HP:0005599	Hypopigmentation of hair	3653	IPW	OMIM:176270
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	OMIM:176270
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	ORPHA:98754
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	ORPHA:177904
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	ORPHA:177901
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	ORPHA:398069
HP:0005599	Hypopigmentation of hair	54551	MAGEL2	ORPHA:177910
HP:0005599	Hypopigmentation of hair	791114	PWRN1	OMIM:176270
HP:0005599	Hypopigmentation of hair	100033413	SNORD116-1	OMIM:176270
HP:0005599	Hypopigmentation of hair	8924	HERC2	OMIM:176270
HP:0005599	Hypopigmentation of hair	145624	PWAR1	OMIM:176270
HP:0005599	Hypopigmentation of hair	23742	NPAP1	OMIM:176270
HP:0005599	Hypopigmentation of hair	338433	SNORD115-1	OMIM:176270
HP:0005599	Hypopigmentation of hair	10128	LRPPRC	ORPHA:70472
HP:0005599	Hypopigmentation of hair	10804	GJB6	ORPHA:189
HP:0005599	Hypopigmentation of hair	472	ATM	ORPHA:100
HP:0005599	Hypopigmentation of hair	4644	MYO5A	ORPHA:33445
HP:0005599	Hypopigmentation of hair	4644	MYO5A	ORPHA:79478
HP:0005599	Hypopigmentation of hair	374879	ZNF699	OMIM:619488
HP:0005599	Hypopigmentation of hair	1638	DCT	OMIM:619165
HP:0005599	Hypopigmentation of hair	6492	SIM1	ORPHA:398079
HP:0005599	Hypopigmentation of hair	1717	DHCR7	ORPHA:818
HP:0005599	Hypopigmentation of hair	1130	LYST	OMIM:214500
HP:0005599	Hypopigmentation of hair	1130	LYST	ORPHA:167
HP:0005599	Hypopigmentation of hair	5053	PAH	ORPHA:79254
HP:0005599	Hypopigmentation of hair	1908	EDN3	ORPHA:897
HP:0005599	Hypopigmentation of hair	6663	SOX10	ORPHA:897
HP:0005599	Hypopigmentation of hair	6663	SOX10	ORPHA:895
HP:0005599	Hypopigmentation of hair	6663	SOX10	ORPHA:163746
HP:0005599	Hypopigmentation of hair	6591	SNAI2	ORPHA:2884
HP:0005599	Hypopigmentation of hair	6591	SNAI2	ORPHA:895
HP:0005599	Hypopigmentation of hair	3815	KIT	ORPHA:2884
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:98754
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:177904
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:177901
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:177910
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:177907
HP:0005599	Hypopigmentation of hair	6638	SNRPN	ORPHA:411515
HP:0005599	Hypopigmentation of hair	4692	NDN	ORPHA:98754
HP:0005599	Hypopigmentation of hair	4692	NDN	ORPHA:177904
HP:0005599	Hypopigmentation of hair	4692	NDN	ORPHA:177901
HP:0005599	Hypopigmentation of hair	4692	NDN	ORPHA:177910
HP:0005599	Hypopigmentation of hair	7337	UBE3A	ORPHA:98794
HP:0005599	Hypopigmentation of hair	7337	UBE3A	ORPHA:98795
HP:0005599	Hypopigmentation of hair	7337	UBE3A	ORPHA:411511
HP:0005599	Hypopigmentation of hair	7337	UBE3A	ORPHA:411515
HP:0005599	Hypopigmentation of hair	4254	KITLG	ORPHA:895
HP:0005599	Hypopigmentation of hair	5077	PAX3	ORPHA:894
HP:0005599	Hypopigmentation of hair	112802	KRT71	ORPHA:170
HP:0005599	Hypopigmentation of hair	121391	KRT74	ORPHA:170
HP:0005599	Hypopigmentation of hair	200879	LIPH	ORPHA:170
HP:0005599	Hypopigmentation of hair	10161	LPAR6	ORPHA:170
HP:0005599	Hypopigmentation of hair	147183	KRT25	ORPHA:170
HP:0005599	Hypopigmentation of hair	28956	LAMTOR2	ORPHA:90023
HP:0005599	Hypopigmentation of hair	538	ATP7A	ORPHA:565
HP:0005599	Hypopigmentation of hair	9652	SKIC3	ORPHA:84064
HP:0005599	Hypopigmentation of hair	6499	SKIC2	ORPHA:84064
HP:0005599	Hypopigmentation of hair	57194	ATP10A	ORPHA:411515
HP:0005599	Hypopigmentation of hair	5873	RAB27A	ORPHA:79477
HP:0005599	Hypopigmentation of hair	79083	MLPH	ORPHA:79478
HP:0005599	Hypopigmentation of hair	65057	ACD	ORPHA:3322
HP:0005599	Hypopigmentation of hair	79158	GNPTAB	ORPHA:576
HP:0005599	Hypopigmentation of hair	80169	CTC1	ORPHA:1775
HP:0005599	Hypopigmentation of hair	26277	TINF2	ORPHA:1775
HP:0005599	Hypopigmentation of hair	55651	NHP2	ORPHA:1775
HP:0005599	Hypopigmentation of hair	79650	USB1	ORPHA:1775
HP:0005599	Hypopigmentation of hair	55135	WRAP53	ORPHA:1775
HP:0005599	Hypopigmentation of hair	51750	RTEL1	ORPHA:1775
HP:0005599	Hypopigmentation of hair	4869	NPM1	ORPHA:1775
HP:0005599	Hypopigmentation of hair	7012	TERC	ORPHA:1775
HP:0005599	Hypopigmentation of hair	55505	NOP10	ORPHA:1775
HP:0005599	Hypopigmentation of hair	5073	PARN	ORPHA:1775
HP:0005599	Hypopigmentation of hair	1736	DKC1	ORPHA:1775
HP:0005599	Hypopigmentation of hair	7298	TYMS	ORPHA:1775
HP:0005599	Hypopigmentation of hair	51702	PADI3	ORPHA:1410
HP:0005599	Hypopigmentation of hair	7053	TGM3	ORPHA:1410
HP:0005599	Hypopigmentation of hair	3265	HRAS	ORPHA:79414
HP:0005599	Hypopigmentation of hair	57167	SALL4	ORPHA:233
HP:0005599	Hypopigmentation of hair	9935	MAFB	ORPHA:233
HP:0005599	Hypopigmentation of hair	1123	CHN1	ORPHA:233
HP:0005598	Facial telangiectasia in butterfly midface distribution	54345	SOX18	OMIM:137940
HP:0005598	Facial telangiectasia in butterfly midface distribution	641	BLM	OMIM:210900
HP:0005597	Congenital alopecia totalis	8456	FOXN1	ORPHA:169095
HP:0005597	Congenital alopecia totalis	1832	DSP	ORPHA:158687
HP:0005597	Congenital alopecia totalis	3728	JUP	ORPHA:158687
HP:0001061	Acne	9563	H6PD	OMIM:604931
HP:0001061	Acne	331	XIAP	OMIM:300635
HP:0001061	Acne	5566	PRKACA	OMIM:615830
HP:0001061	Acne	5566	PRKACA	ORPHA:189439
HP:0001061	Acne	8622	PDE8B	ORPHA:189439
HP:0001061	Acne	5573	PRKAR1A	ORPHA:189439
HP:0001061	Acne	50940	PDE11A	ORPHA:189439
HP:0001061	Acne	54361	WNT4	ORPHA:247768
HP:0001061	Acne	54361	WNT4	OMIM:158330
HP:0001061	Acne	285590	SH3PXD2B	ORPHA:137834
HP:0001061	Acne	285590	SH3PXD2B	OMIM:249420
HP:0001061	Acne	9060	PAPSS2	OMIM:612847
HP:0001061	Acne	2908	NR3C1	ORPHA:786
HP:0001061	Acne	2908	NR3C1	ORPHA:96253
HP:0001061	Acne	2099	ESR1	ORPHA:785
HP:0001061	Acne	2099	ESR1	OMIM:615363
HP:0001061	Acne	79798	ARMC5	ORPHA:189427
HP:0001061	Acne	2778	GNAS	ORPHA:189427
HP:0001061	Acne	1584	CYP11B1	ORPHA:90795
HP:0001061	Acne	1893	ECM1	ORPHA:530
HP:0001061	Acne	9663	LPIN2	ORPHA:77297
HP:0001061	Acne	84196	USP48	ORPHA:96253
HP:0001061	Acne	7157	TP53	ORPHA:96253
HP:0001061	Acne	9101	USP8	ORPHA:96253
HP:0001061	Acne	64072	CDH23	ORPHA:96253
HP:0001061	Acne	673	BRAF	ORPHA:96253
HP:0001061	Acne	546	ATRX	ORPHA:96253
HP:0001061	Acne	6578	SLCO2A1	OMIM:614441
HP:0001061	Acne	6578	SLCO2A1	OMIM:167100
HP:0001061	Acne	6578	SLCO2A1	ORPHA:2796
HP:0001061	Acne	1201	CLN3	ORPHA:228346
HP:0001061	Acne	3973	LHCGR	ORPHA:3000
HP:0001061	Acne	1312	COMT	ORPHA:567
HP:0001061	Acne	221037	JMJD1C	ORPHA:567
HP:0001061	Acne	2812	GP1BB	ORPHA:567
HP:0001061	Acne	6239	RREB1	ORPHA:567
HP:0001061	Acne	6899	TBX1	ORPHA:567
HP:0001061	Acne	6899	TBX1	OMIM:188400
HP:0001061	Acne	7290	HIRA	ORPHA:567
HP:0001061	Acne	9632	SEC24C	ORPHA:567
HP:0001061	Acne	7353	UFD1	ORPHA:567
HP:0001061	Acne	421	ARVCF	ORPHA:567
HP:0001061	Acne	83550	GPR101	ORPHA:963
HP:0001061	Acne	9049	AIP	ORPHA:963
HP:0001061	Acne	3248	HPGD	ORPHA:2796
HP:0001061	Acne	64131	XYLT1	ORPHA:370930
HP:0001061	Acne	4212	MEIS2	ORPHA:261190
HP:0001061	Acne	175	AGA	OMIM:208400
HP:0001061	Acne	5167	ENPP1	ORPHA:758
HP:0001061	Acne	368	ABCC6	ORPHA:758
HP:0001061	Acne	367	AR	ORPHA:99429
HP:0001061	Acne	2263	FGFR2	OMIM:101200
HP:0001061	Acne	149233	IL23R	ORPHA:117
HP:0001061	Acne	6775	STAT4	ORPHA:117
HP:0001061	Acne	3586	IL10	ORPHA:117
HP:0001061	Acne	1230	CCR1	ORPHA:117
HP:0001061	Acne	355	FAS	ORPHA:117
HP:0001061	Acne	3592	IL12A	ORPHA:117
HP:0001061	Acne	101928376	IL12A-AS1	ORPHA:117
HP:0001061	Acne	3106	HLA-B	ORPHA:117
HP:0001061	Acne	7099	TLR4	ORPHA:117
HP:0001061	Acne	3459	IFNGR1	ORPHA:117
HP:0001061	Acne	720	C4A	ORPHA:117
HP:0001061	Acne	337867	UBAC2	ORPHA:117
HP:0001061	Acne	51752	ERAP1	ORPHA:117
HP:0001061	Acne	8302	KLRC4	ORPHA:117
HP:0001061	Acne	9051	PSTPIP1	OMIM:604416
HP:0001061	Acne	5950	RBP4	OMIM:615147
HP:0001061	Acne	10525	HYOU1	OMIM:233600
HP:0001061	Acne	126695	KDF1	OMIM:617337
HP:0001061	Acne	10804	GJB6	ORPHA:477
HP:0001061	Acne	2706	GJB2	ORPHA:477
HP:0001061	Acne	3551	IKBKB	OMIM:618204
HP:0001061	Acne	23385	NCSTN	OMIM:142690
HP:0001061	Acne	55851	PSENEN	OMIM:613736
HP:0001061	Acne	55851	PSENEN	ORPHA:79145
HP:0001061	Acne	4210	MEFV	ORPHA:3243
HP:0001061	Acne	4210	MEFV	OMIM:608068
HP:0001061	Acne	56983	POGLUT1	ORPHA:79145
HP:0001061	Acne	3852	KRT5	ORPHA:79145
HP:0001061	Acne	23509	POFUT1	ORPHA:79145
HP:0001061	Acne	5663	PSEN1	OMIM:613737
HP:0005595	Generalized hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0005595	Generalized hyperkeratosis	5728	PTEN	ORPHA:201
HP:0005595	Generalized hyperkeratosis	5728	PTEN	ORPHA:744
HP:0005595	Generalized hyperkeratosis	6390	SDHB	ORPHA:201
HP:0005595	Generalized hyperkeratosis	6392	SDHD	ORPHA:201
HP:0005595	Generalized hyperkeratosis	6391	SDHC	ORPHA:201
HP:0005595	Generalized hyperkeratosis	207	AKT1	ORPHA:201
HP:0005595	Generalized hyperkeratosis	207	AKT1	ORPHA:744
HP:0005595	Generalized hyperkeratosis	205717	USF3	ORPHA:201
HP:0005595	Generalized hyperkeratosis	5290	PIK3CA	ORPHA:201
HP:0005595	Generalized hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0005595	Generalized hyperkeratosis	4000	LMNA	ORPHA:1662
HP:0005595	Generalized hyperkeratosis	10269	ZMPSTE24	ORPHA:1662
HP:0005595	Generalized hyperkeratosis	2707	GJB3	OMIM:133200
HP:0005595	Generalized hyperkeratosis	2517	FUCA1	ORPHA:349
HP:0031432	Restricted or repetitive behaviors or interests	6515	SLC2A3	ORPHA:399
HP:0031432	Restricted or repetitive behaviors or interests	1183	CLCN4	OMIM:300114
HP:0031432	Restricted or repetitive behaviors or interests	1183	CLCN4	ORPHA:485350
HP:0031432	Restricted or repetitive behaviors or interests	55209	SETD5	ORPHA:404440
HP:0031432	Restricted or repetitive behaviors or interests	55209	SETD5	OMIM:615761
HP:0031432	Restricted or repetitive behaviors or interests	4774	NFIA	ORPHA:401986
HP:0031432	Restricted or repetitive behaviors or interests	23030	KDM4B	OMIM:619320
HP:0031432	Restricted or repetitive behaviors or interests	8239	USP9X	OMIM:300919
HP:0031432	Restricted or repetitive behaviors or interests	6334	SCN8A	OMIM:614558
HP:0031432	Restricted or repetitive behaviors or interests	5053	PAH	OMIM:261600
HP:0031432	Restricted or repetitive behaviors or interests	10847	SRCAP	ORPHA:2044
HP:0031432	Restricted or repetitive behaviors or interests	55636	CHD7	ORPHA:138
HP:0031432	Restricted or repetitive behaviors or interests	9723	SEMA3E	ORPHA:138
HP:0031432	Restricted or repetitive behaviors or interests	4131	MAP1B	OMIM:618918
HP:0031432	Restricted or repetitive behaviors or interests	64601	VPS16	OMIM:619291
HP:0031432	Restricted or repetitive behaviors or interests	57492	ARID1B	OMIM:135900
HP:0031432	Restricted or repetitive behaviors or interests	9968	MED12	ORPHA:93932
HP:0031432	Restricted or repetitive behaviors or interests	9968	MED12	OMIM:309520
HP:0031432	Restricted or repetitive behaviors or interests	7080	NKX2-1	ORPHA:209905
HP:0031432	Restricted or repetitive behaviors or interests	1813	DRD2	ORPHA:36899
HP:0031432	Restricted or repetitive behaviors or interests	8910	SGCE	ORPHA:36899
HP:0031432	Restricted or repetitive behaviors or interests	8910	SGCE	OMIM:159900
HP:0031432	Restricted or repetitive behaviors or interests	79734	KCTD17	ORPHA:36899
HP:0031432	Restricted or repetitive behaviors or interests	1861	TOR1A	ORPHA:36899
HP:0031432	Restricted or repetitive behaviors or interests	164	AP1G1	OMIM:619467
HP:0031432	Restricted or repetitive behaviors or interests	833	CARS1	OMIM:618891
HP:0031432	Restricted or repetitive behaviors or interests	23476	BRD4	ORPHA:199
HP:0031432	Restricted or repetitive behaviors or interests	9126	SMC3	ORPHA:199
HP:0031432	Restricted or repetitive behaviors or interests	25836	NIPBL	ORPHA:199
HP:0031432	Restricted or repetitive behaviors or interests	55869	HDAC8	ORPHA:199
HP:0031432	Restricted or repetitive behaviors or interests	5885	RAD21	ORPHA:199
HP:0031432	Restricted or repetitive behaviors or interests	7025	NR2F1	ORPHA:401777
HP:0031432	Restricted or repetitive behaviors or interests	7025	NR2F1	OMIM:615722
HP:0031432	Restricted or repetitive behaviors or interests	8493	PPM1D	OMIM:617450
HP:0031432	Restricted or repetitive behaviors or interests	26038	CHD5	OMIM:619873
HP:0031432	Restricted or repetitive behaviors or interests	2643	GCH1	ORPHA:98808
HP:0031432	Restricted or repetitive behaviors or interests	4929	NR4A2	ORPHA:98808
HP:0031432	Restricted or repetitive behaviors or interests	3615	IMPDH2	ORPHA:98808
HP:0031432	Restricted or repetitive behaviors or interests	54902	TTC19	OMIM:615157
HP:0031432	Restricted or repetitive behaviors or interests	6804	STX1A	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	7461	CLIP2	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	84277	DNAJC30	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	8468	FKBP6	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	5982	RFC2	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	2969	GTF2I	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	3984	LIMK1	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	9569	GTF2IRD1	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	155382	VPS37D	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	155368	METTL27	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	114049	BUD23	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	7458	EIF4H	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	84163	GTF2IRD2	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	9275	BCL7B	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	26608	TBL2	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	653361	NCF1	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	135886	TMEM270	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	9031	BAZ1B	ORPHA:904
HP:0031432	Restricted or repetitive behaviors or interests	55343	SLC35C1	OMIM:266265
HP:0031432	Restricted or repetitive behaviors or interests	7504	XK	OMIM:300842
HP:0031432	Restricted or repetitive behaviors or interests	22871	NLGN1	OMIM:618830
HP:0031432	Restricted or repetitive behaviors or interests	10531	PITRM1	OMIM:619405
HP:0031432	Restricted or repetitive behaviors or interests	23162	MAPK8IP3	OMIM:618443
HP:0031432	Restricted or repetitive behaviors or interests	111	ADCY5	OMIM:619651
HP:0031432	Restricted or repetitive behaviors or interests	11011	TLK2	OMIM:618050
HP:0031432	Restricted or repetitive behaviors or interests	23309	SIN3B	ORPHA:500166
HP:0031432	Restricted or repetitive behaviors or interests	25942	SIN3A	ORPHA:500166
HP:0031432	Restricted or repetitive behaviors or interests	8295	TRRAP	OMIM:618454
HP:0031432	Restricted or repetitive behaviors or interests	7319	UBE2A	ORPHA:163956
HP:0031432	Restricted or repetitive behaviors or interests	3720	JARID2	OMIM:620098
HP:0031432	Restricted or repetitive behaviors or interests	2137	EXTL3	ORPHA:508533
HP:0031432	Restricted or repetitive behaviors or interests	5138	PDE2A	OMIM:619150
HP:0031432	Restricted or repetitive behaviors or interests	6535	SLC6A8	OMIM:300352
HP:0031432	Restricted or repetitive behaviors or interests	2132	EXT2	OMIM:616682
HP:0031432	Restricted or repetitive behaviors or interests	23241	PACS2	OMIM:618067
HP:0031432	Restricted or repetitive behaviors or interests	91801	ALKBH8	OMIM:618504
HP:0031432	Restricted or repetitive behaviors or interests	55777	MBD5	ORPHA:228402
HP:0031432	Restricted or repetitive behaviors or interests	10093	ARPC4	OMIM:620141
HP:0031432	Restricted or repetitive behaviors or interests	4983	OPHN1	OMIM:300486
HP:0031432	Restricted or repetitive behaviors or interests	80816	ASXL3	OMIM:615485
HP:0031432	Restricted or repetitive behaviors or interests	283489	CHAMP1	OMIM:616579
HP:0031432	Restricted or repetitive behaviors or interests	80155	NAA15	OMIM:617787
HP:0031432	Restricted or repetitive behaviors or interests	80055	PGAP1	OMIM:615802
HP:0031432	Restricted or repetitive behaviors or interests	2314	FLII	ORPHA:819
HP:0031432	Restricted or repetitive behaviors or interests	23096	IQSEC2	ORPHA:819
HP:0031432	Restricted or repetitive behaviors or interests	10743	RAI1	ORPHA:819
HP:0031432	Restricted or repetitive behaviors or interests	10743	RAI1	OMIM:182290
HP:0031432	Restricted or repetitive behaviors or interests	10522	DEAF1	ORPHA:819
HP:0031432	Restricted or repetitive behaviors or interests	10522	DEAF1	OMIM:617171
HP:0031432	Restricted or repetitive behaviors or interests	7086	TKT	ORPHA:488618
HP:0031432	Restricted or repetitive behaviors or interests	7086	TKT	OMIM:617044
HP:0031432	Restricted or repetitive behaviors or interests	63908	NAPB	OMIM:620033
HP:0031432	Restricted or repetitive behaviors or interests	6595	SMARCA2	OMIM:619293
HP:0031432	Restricted or repetitive behaviors or interests	6660	SOX5	ORPHA:313892
HP:0031432	Restricted or repetitive behaviors or interests	3899	AFF3	OMIM:619297
HP:0031432	Restricted or repetitive behaviors or interests	150094	SIK1	OMIM:616341
HP:0031432	Restricted or repetitive behaviors or interests	3064	HTT	OMIM:617435
HP:0031432	Restricted or repetitive behaviors or interests	10381	TUBB3	ORPHA:300570
HP:0031432	Restricted or repetitive behaviors or interests	10716	TBR1	OMIM:606053
HP:0031432	Restricted or repetitive behaviors or interests	9839	ZEB2	ORPHA:261552
HP:0031432	Restricted or repetitive behaviors or interests	9839	ZEB2	ORPHA:261537
HP:0031432	Restricted or repetitive behaviors or interests	10087	CERT1	OMIM:616351
HP:0031432	Restricted or repetitive behaviors or interests	1105	CHD1	OMIM:617682
HP:0031432	Restricted or repetitive behaviors or interests	1105	CHD1	ORPHA:529965
HP:0031432	Restricted or repetitive behaviors or interests	1656	DDX6	OMIM:618653
HP:0031432	Restricted or repetitive behaviors or interests	26053	AUTS2	ORPHA:352490
HP:0031432	Restricted or repetitive behaviors or interests	4297	KMT2A	ORPHA:319182
HP:0031432	Restricted or repetitive behaviors or interests	79813	EHMT1	OMIM:610253
HP:0031432	Restricted or repetitive behaviors or interests	4915	NTRK2	OMIM:613886
HP:0031432	Restricted or repetitive behaviors or interests	4915	NTRK2	OMIM:617830
HP:0031432	Restricted or repetitive behaviors or interests	53834	FGFRL1	OMIM:194190
HP:0031432	Restricted or repetitive behaviors or interests	1487	CTBP1	OMIM:194190
HP:0031432	Restricted or repetitive behaviors or interests	3954	LETM1	OMIM:194190
HP:0031432	Restricted or repetitive behaviors or interests	7468	NSD2	OMIM:194190
HP:0031432	Restricted or repetitive behaviors or interests	7468	NSD2	OMIM:619695
HP:0031432	Restricted or repetitive behaviors or interests	10815	CPLX1	OMIM:194190
HP:0031432	Restricted or repetitive behaviors or interests	4247	MGAT2	OMIM:212066
HP:0031432	Restricted or repetitive behaviors or interests	253738	EBF3	OMIM:617330
HP:0031432	Restricted or repetitive behaviors or interests	339983	NAT8L	OMIM:614063
HP:0031432	Restricted or repetitive behaviors or interests	1182	CLCN3	OMIM:619512
HP:0031432	Restricted or repetitive behaviors or interests	55773	TBC1D23	OMIM:617695
HP:0031432	Restricted or repetitive behaviors or interests	116115	ZNF526	OMIM:619877
HP:0031432	Restricted or repetitive behaviors or interests	5590	PRKCZ	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	23013	SPEN	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	23013	SPEN	OMIM:619312
HP:0031432	Restricted or repetitive behaviors or interests	8510	MMP23B	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	7798	LUZP1	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	6497	SKI	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	10630	PDPN	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	3339	HSPG2	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	10277	UBE4B	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	8514	KCNAB2	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	473	RERE	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	63976	PRDM16	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	54897	CASZ1	ORPHA:1606
HP:0031432	Restricted or repetitive behaviors or interests	6899	TBX1	ORPHA:1727
HP:0031432	Restricted or repetitive behaviors or interests	4952	OCRL	OMIM:309000
HP:0031432	Restricted or repetitive behaviors or interests	4952	OCRL	ORPHA:534
HP:0031432	Restricted or repetitive behaviors or interests	22859	ADGRL1	OMIM:620065
HP:0031432	Restricted or repetitive behaviors or interests	1859	DYRK1A	ORPHA:464311
HP:0031432	Restricted or repetitive behaviors or interests	1859	DYRK1A	OMIM:614104
HP:0031432	Restricted or repetitive behaviors or interests	10236	HNRNPR	OMIM:620073
HP:0031432	Restricted or repetitive behaviors or interests	7750	ZMYM2	OMIM:619522
HP:0031432	Restricted or repetitive behaviors or interests	3800	KIF5C	OMIM:615282
HP:0031432	Restricted or repetitive behaviors or interests	6942	TCF20	OMIM:618430
HP:0031432	Restricted or repetitive behaviors or interests	23261	CAMTA1	OMIM:614756
HP:0031432	Restricted or repetitive behaviors or interests	9338	TCEAL1	OMIM:301094
HP:0031432	Restricted or repetitive behaviors or interests	6925	TCF4	OMIM:610954
HP:0031432	Restricted or repetitive behaviors or interests	4208	MEF2C	ORPHA:228384
HP:0031432	Restricted or repetitive behaviors or interests	4208	MEF2C	OMIM:613443
HP:0031432	Restricted or repetitive behaviors or interests	4677	NARS1	OMIM:619092
HP:0031432	Restricted or repetitive behaviors or interests	7030	TFE3	OMIM:301066
HP:0031432	Restricted or repetitive behaviors or interests	27086	FOXP1	OMIM:613670
HP:0031432	Restricted or repetitive behaviors or interests	26047	CNTNAP2	OMIM:610042
HP:0031432	Restricted or repetitive behaviors or interests	7994	KAT6A	OMIM:616268
HP:0031432	Restricted or repetitive behaviors or interests	162417	NAGS	ORPHA:927
HP:0031432	Restricted or repetitive behaviors or interests	23219	FBXO28	OMIM:619777
HP:0031432	Restricted or repetitive behaviors or interests	1107	CHD3	OMIM:618205
HP:0031432	Restricted or repetitive behaviors or interests	51574	LARP7	ORPHA:319671
HP:0031432	Restricted or repetitive behaviors or interests	6509	SLC1A4	ORPHA:447997
HP:0031432	Restricted or repetitive behaviors or interests	54413	NLGN3	OMIM:300425
HP:0031432	Restricted or repetitive behaviors or interests	25970	SH2B1	ORPHA:261197
HP:0031432	Restricted or repetitive behaviors or interests	1917	EEF1A2	OMIM:616393
HP:0031432	Restricted or repetitive behaviors or interests	2702	GJA5	OMIM:612474
HP:0031432	Restricted or repetitive behaviors or interests	2703	GJA8	OMIM:612474
HP:0031432	Restricted or repetitive behaviors or interests	7407	VARS1	OMIM:617802
HP:0031432	Restricted or repetitive behaviors or interests	6857	SYT1	OMIM:618218
HP:0031432	Restricted or repetitive behaviors or interests	6857	SYT1	ORPHA:522077
HP:0031432	Restricted or repetitive behaviors or interests	81603	TRIM8	OMIM:619428
HP:0031432	Restricted or repetitive behaviors or interests	9230	RAB11B	OMIM:617807
HP:0031432	Restricted or repetitive behaviors or interests	2902	GRIN1	ORPHA:208447
HP:0031432	Restricted or repetitive behaviors or interests	2902	GRIN1	OMIM:617820
HP:0031432	Restricted or repetitive behaviors or interests	10075	HUWE1	OMIM:309590
HP:0031432	Restricted or repetitive behaviors or interests	56896	DPYSL5	OMIM:619435
HP:0031432	Restricted or repetitive behaviors or interests	54517	PUS7	OMIM:618342
HP:0031432	Restricted or repetitive behaviors or interests	23394	ADNP	OMIM:615873
HP:0031432	Restricted or repetitive behaviors or interests	9759	HDAC4	ORPHA:1001
HP:0031432	Restricted or repetitive behaviors or interests	9759	HDAC4	OMIM:600430
HP:0031432	Restricted or repetitive behaviors or interests	10785	WDR4	OMIM:618347
HP:0031432	Restricted or repetitive behaviors or interests	11133	KPTN	OMIM:615637
HP:0031432	Restricted or repetitive behaviors or interests	11133	KPTN	ORPHA:397612
HP:0031432	Restricted or repetitive behaviors or interests	546	ATRX	OMIM:301040
HP:0031432	Restricted or repetitive behaviors or interests	26115	TANC2	OMIM:618906
HP:0031432	Restricted or repetitive behaviors or interests	5515	PPP2CA	OMIM:618354
HP:0031432	Restricted or repetitive behaviors or interests	1387	CREBBP	ORPHA:353281
HP:0031432	Restricted or repetitive behaviors or interests	1387	CREBBP	ORPHA:353277
HP:0031432	Restricted or repetitive behaviors or interests	29998	BICRA	OMIM:619325
HP:0031432	Restricted or repetitive behaviors or interests	23291	FBXW11	OMIM:618914
HP:0031432	Restricted or repetitive behaviors or interests	2033	EP300	ORPHA:353284
HP:0031432	Restricted or repetitive behaviors or interests	2891	GRIA2	OMIM:618917
HP:0031432	Restricted or repetitive behaviors or interests	23499	MACF1	ORPHA:572013
HP:0031432	Restricted or repetitive behaviors or interests	387119	CEP85L	ORPHA:572013
HP:0031432	Restricted or repetitive behaviors or interests	6904	TBCD	ORPHA:496641
HP:0031432	Restricted or repetitive behaviors or interests	5934	RBL2	OMIM:619690
HP:0031432	Restricted or repetitive behaviors or interests	55250	ELP2	OMIM:617270
HP:0031432	Restricted or repetitive behaviors or interests	57551	TAOK1	OMIM:619575
HP:0031432	Restricted or repetitive behaviors or interests	23221	RHOBTB2	OMIM:618004
HP:0031432	Restricted or repetitive behaviors or interests	112939	NACC1	OMIM:617393
HP:0031432	Restricted or repetitive behaviors or interests	63035	BCORL1	OMIM:301029
HP:0031432	Restricted or repetitive behaviors or interests	8260	NAA10	OMIM:300855
HP:0031432	Restricted or repetitive behaviors or interests	201163	FLCN	OMIM:610883
HP:0031432	Restricted or repetitive behaviors or interests	1137	CHRNA4	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	1135	CHRNA2	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	57010	CABP4	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	1141	CHRNB2	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	57582	KCNT1	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	1392	CRH	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	9681	DEPDC5	ORPHA:98784
HP:0031432	Restricted or repetitive behaviors or interests	5422	POLA1	OMIM:301030
HP:0031432	Restricted or repetitive behaviors or interests	10524	KAT5	OMIM:619103
HP:0031432	Restricted or repetitive behaviors or interests	80185	TTI2	OMIM:615541
HP:0031432	Restricted or repetitive behaviors or interests	80185	TTI2	ORPHA:391307
HP:0031432	Restricted or repetitive behaviors or interests	3188	HNRNPH2	OMIM:300986
HP:0031432	Restricted or repetitive behaviors or interests	23152	CIC	OMIM:617600
HP:0031432	Restricted or repetitive behaviors or interests	6304	SATB1	OMIM:619229
HP:0031432	Restricted or repetitive behaviors or interests	57187	THOC2	ORPHA:457240
HP:0031432	Restricted or repetitive behaviors or interests	84065	TMEM222	OMIM:619470
HP:0031432	Restricted or repetitive behaviors or interests	116442	RAB39B	OMIM:300271
HP:0031432	Restricted or repetitive behaviors or interests	5977	DPF2	OMIM:618027
HP:0031432	Restricted or repetitive behaviors or interests	85440	DOCK7	ORPHA:411986
HP:0031432	Restricted or repetitive behaviors or interests	25914	RTTN	ORPHA:468631
HP:0031432	Restricted or repetitive behaviors or interests	28514	DLL1	OMIM:618709
HP:0031432	Restricted or repetitive behaviors or interests	8567	MADD	OMIM:619005
HP:0031432	Restricted or repetitive behaviors or interests	122553	TRAPPC6B	OMIM:617862
HP:0031432	Restricted or repetitive behaviors or interests	6472	SHMT2	OMIM:619121
HP:0031432	Restricted or repetitive behaviors or interests	5625	PRODH	OMIM:239500
HP:0031432	Restricted or repetitive behaviors or interests	84628	NTNG2	OMIM:618718
HP:0031432	Restricted or repetitive behaviors or interests	10717	AP4B1	ORPHA:280763
HP:0031432	Restricted or repetitive behaviors or interests	9179	AP4M1	ORPHA:280763
HP:0031432	Restricted or repetitive behaviors or interests	11154	AP4S1	ORPHA:280763
HP:0031432	Restricted or repetitive behaviors or interests	23431	AP4E1	ORPHA:280763
HP:0031432	Restricted or repetitive behaviors or interests	10577	NPC2	OMIM:607625
HP:0031432	Restricted or repetitive behaviors or interests	57502	NLGN4X	OMIM:300495
HP:0031432	Restricted or repetitive behaviors or interests	5879	RAC1	OMIM:617751
HP:0031432	Restricted or repetitive behaviors or interests	5879	RAC1	ORPHA:500159
HP:0031432	Restricted or repetitive behaviors or interests	5528	PPP2R5D	ORPHA:457279
HP:0031432	Restricted or repetitive behaviors or interests	10479	SLC9A6	ORPHA:85278
HP:0031432	Restricted or repetitive behaviors or interests	23435	TARDBP	OMIM:612069
HP:0031432	Restricted or repetitive behaviors or interests	91147	TMEM67	OMIM:610688
HP:0031432	Restricted or repetitive behaviors or interests	4693	NDP	ORPHA:649
HP:0031432	Restricted or repetitive behaviors or interests	10079	ATP9A	OMIM:620242
HP:0031432	Restricted or repetitive behaviors or interests	8942	KYNU	ORPHA:79155
HP:0031432	Restricted or repetitive behaviors or interests	3000	GUCY2D	OMIM:204000
HP:0031432	Restricted or repetitive behaviors or interests	6121	RPE65	OMIM:204100
HP:0031432	Restricted or repetitive behaviors or interests	7287	TULP1	OMIM:613843
HP:0031432	Restricted or repetitive behaviors or interests	23418	CRB1	OMIM:613835
HP:0031432	Restricted or repetitive behaviors or interests	64802	NMNAT1	OMIM:608553
HP:0031432	Restricted or repetitive behaviors or interests	83696	TRAPPC9	OMIM:613192
HP:0031432	Restricted or repetitive behaviors or interests	288	ANK3	OMIM:615493
HP:0031432	Restricted or repetitive behaviors or interests	288	ANK3	ORPHA:356996
HP:0031432	Restricted or repetitive behaviors or interests	816	CAMK2B	OMIM:617799
HP:0031432	Restricted or repetitive behaviors or interests	781	CACNA2D1	OMIM:620149
HP:0031432	Restricted or repetitive behaviors or interests	93210	PGAP3	OMIM:615716
HP:0031432	Restricted or repetitive behaviors or interests	3190	HNRNPK	ORPHA:352665
HP:0031432	Restricted or repetitive behaviors or interests	3190	HNRNPK	ORPHA:453504
HP:0031432	Restricted or repetitive behaviors or interests	10533	ATG7	OMIM:619422
HP:0031432	Restricted or repetitive behaviors or interests	131118	DNAJC19	ORPHA:66634
HP:0031432	Restricted or repetitive behaviors or interests	3458	IFNG	ORPHA:805
HP:0031432	Restricted or repetitive behaviors or interests	7248	TSC1	ORPHA:805
HP:0031432	Restricted or repetitive behaviors or interests	7249	TSC2	ORPHA:805
HP:0031432	Restricted or repetitive behaviors or interests	1203	CLN5	ORPHA:228360
HP:0031432	Restricted or repetitive behaviors or interests	6638	SNRPN	ORPHA:177904
HP:0031432	Restricted or repetitive behaviors or interests	6638	SNRPN	ORPHA:177901
HP:0031432	Restricted or repetitive behaviors or interests	4692	NDN	ORPHA:177904
HP:0031432	Restricted or repetitive behaviors or interests	4692	NDN	ORPHA:177901
HP:0031432	Restricted or repetitive behaviors or interests	54551	MAGEL2	ORPHA:177904
HP:0031432	Restricted or repetitive behaviors or interests	54551	MAGEL2	ORPHA:177901
HP:0031432	Restricted or repetitive behaviors or interests	4948	OCA2	ORPHA:177904
HP:0031432	Restricted or repetitive behaviors or interests	4948	OCA2	ORPHA:177901
HP:0031432	Restricted or repetitive behaviors or interests	2332	FMR1	OMIM:300623
HP:0031432	Restricted or repetitive behaviors or interests	7874	USP7	ORPHA:500055
HP:0031432	Restricted or repetitive behaviors or interests	55870	ASH1L	OMIM:617796
HP:0031432	Restricted or repetitive behaviors or interests	50651	SLC45A1	OMIM:617532
HP:0031432	Restricted or repetitive behaviors or interests	8831	SYNGAP1	ORPHA:544254
HP:0031432	Restricted or repetitive behaviors or interests	7204	TRIO	OMIM:618825
HP:0031432	Restricted or repetitive behaviors or interests	2328	FMO3	ORPHA:468726
HP:0031432	Restricted or repetitive behaviors or interests	7532	YWHAG	OMIM:617665
HP:0031432	Restricted or repetitive behaviors or interests	1760	DMPK	OMIM:160900
HP:0031432	Restricted or repetitive behaviors or interests	6335	SCN9A	ORPHA:33069
HP:0031432	Restricted or repetitive behaviors or interests	6335	SCN9A	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	6326	SCN2A	ORPHA:33069
HP:0031432	Restricted or repetitive behaviors or interests	6326	SCN2A	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	6323	SCN1A	ORPHA:33069
HP:0031432	Restricted or repetitive behaviors or interests	6323	SCN1A	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	6324	SCN1B	ORPHA:33069
HP:0031432	Restricted or repetitive behaviors or interests	6324	SCN1B	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	57526	PCDH19	ORPHA:33069
HP:0031432	Restricted or repetitive behaviors or interests	51085	MLXIPL	OMIM:194050
HP:0031432	Restricted or repetitive behaviors or interests	2006	ELN	OMIM:194050
HP:0031432	Restricted or repetitive behaviors or interests	112755	STX1B	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	2563	GABRD	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	348980	HCN1	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	84059	ADGRV1	ORPHA:36387
HP:0031432	Restricted or repetitive behaviors or interests	7074	TIAM1	OMIM:619908
HP:0031432	Restricted or repetitive behaviors or interests	374969	SVBP	OMIM:618569
HP:0031432	Restricted or repetitive behaviors or interests	5281	PIGF	OMIM:619356
HP:0031432	Restricted or repetitive behaviors or interests	4001	LMNB1	OMIM:619179
HP:0031432	Restricted or repetitive behaviors or interests	8367	H4C5	OMIM:619950
HP:0031432	Restricted or repetitive behaviors or interests	6844	VAMP2	OMIM:618760
HP:0031432	Restricted or repetitive behaviors or interests	2770	GNAI1	OMIM:619854
HP:0031432	Restricted or repetitive behaviors or interests	774	CACNA1B	OMIM:618497
HP:0031432	Restricted or repetitive behaviors or interests	10659	CELF2	OMIM:619561
HP:0031432	Restricted or repetitive behaviors or interests	3745	KCNB1	OMIM:616056
HP:0031432	Restricted or repetitive behaviors or interests	2903	GRIN2A	ORPHA:289266
HP:0031432	Restricted or repetitive behaviors or interests	22907	DHX30	OMIM:617804
HP:0031432	Restricted or repetitive behaviors or interests	10472	ZBTB18	OMIM:612337
HP:0031432	Restricted or repetitive behaviors or interests	8905	AP1S2	OMIM:304340
HP:0031432	Restricted or repetitive behaviors or interests	10730	YME1L1	OMIM:617302
HP:0031432	Restricted or repetitive behaviors or interests	2334	AFF2	ORPHA:100973
HP:0031432	Restricted or repetitive behaviors or interests	2334	AFF2	OMIM:309548
HP:0031432	Restricted or repetitive behaviors or interests	1798	DPAGT1	ORPHA:86309
HP:0031432	Restricted or repetitive behaviors or interests	2783	GNB2	OMIM:619503
HP:0031432	Restricted or repetitive behaviors or interests	80232	WDR26	ORPHA:513456
HP:0031432	Restricted or repetitive behaviors or interests	340533	NEXMIF	OMIM:300912
HP:0031432	Restricted or repetitive behaviors or interests	25978	CHMP2B	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	5663	PSEN1	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	2896	GRN	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	54664	TMEM106B	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	8878	SQSTM1	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	4137	MAPT	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	54209	TREM2	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	7415	VCP	ORPHA:275864
HP:0031432	Restricted or repetitive behaviors or interests	6532	SLC6A4	OMIM:164230
HP:0031432	Restricted or repetitive behaviors or interests	3356	HTR2A	OMIM:164230
HP:0031432	Restricted or repetitive behaviors or interests	6513	SLC2A1	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	2562	GABRB3	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	2554	GABRA1	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	8912	CACNA1H	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	8629	JRK	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	2566	GABRG2	ORPHA:64280
HP:0031432	Restricted or repetitive behaviors or interests	1725	DHPS	OMIM:618480
HP:0031432	Restricted or repetitive behaviors or interests	8812	CCNK	OMIM:618147
HP:0031432	Restricted or repetitive behaviors or interests	23316	CUX2	OMIM:618141
HP:0031432	Restricted or repetitive behaviors or interests	57680	CHD8	OMIM:615032
HP:0031432	Restricted or repetitive behaviors or interests	51126	NAA20	OMIM:619717
HP:0031432	Restricted or repetitive behaviors or interests	8924	HERC2	OMIM:615516
HP:0031432	Restricted or repetitive behaviors or interests	118987	PDZD8	OMIM:620021
HP:0031432	Restricted or repetitive behaviors or interests	5575	PRKAR1B	OMIM:619680
HP:0031432	Restricted or repetitive behaviors or interests	1457	CSNK2A1	OMIM:617062
HP:0031432	Restricted or repetitive behaviors or interests	57520	HECW2	OMIM:617268
HP:0031432	Restricted or repetitive behaviors or interests	53335	BCL11A	OMIM:617101
HP:0031432	Restricted or repetitive behaviors or interests	4858	NOVA2	OMIM:618859
HP:0031432	Restricted or repetitive behaviors or interests	23097	CDK19	OMIM:618916
HP:0031432	Restricted or repetitive behaviors or interests	22827	PUF60	ORPHA:508488
HP:0031432	Restricted or repetitive behaviors or interests	57459	GATAD2B	ORPHA:363686
HP:0031432	Restricted or repetitive behaviors or interests	57459	GATAD2B	OMIM:615074
HP:0031432	Restricted or repetitive behaviors or interests	26137	ZBTB20	OMIM:259050
HP:0031432	Restricted or repetitive behaviors or interests	613	BCR	ORPHA:261330
HP:0031432	Restricted or repetitive behaviors or interests	1399	CRKL	ORPHA:261330
HP:0031432	Restricted or repetitive behaviors or interests	5594	MAPK1	ORPHA:261330
HP:0031432	Restricted or repetitive behaviors or interests	284361	EMC10	OMIM:619264
HP:0031432	Restricted or repetitive behaviors or interests	23126	POGZ	OMIM:616364
HP:0031432	Restricted or repetitive behaviors or interests	6711	SPTBN1	OMIM:619475
HP:0031432	Restricted or repetitive behaviors or interests	57688	ZSWIM6	OMIM:617865
HP:0031432	Restricted or repetitive behaviors or interests	196528	ARID2	OMIM:617808
HP:0031432	Restricted or repetitive behaviors or interests	80347	COASY	OMIM:615643
HP:0031432	Restricted or repetitive behaviors or interests	22995	CEP152	OMIM:614852
HP:0031432	Restricted or repetitive behaviors or interests	2890	GRIA1	OMIM:619927
HP:0031432	Restricted or repetitive behaviors or interests	3781	KCNN2	OMIM:619725
HP:0031432	Restricted or repetitive behaviors or interests	139411	PTCHD1	OMIM:300830
HP:0031432	Restricted or repetitive behaviors or interests	5155	PDGFB	OMIM:615483
HP:0031432	Restricted or repetitive behaviors or interests	2782	GNB1	OMIM:616973
HP:0031432	Restricted or repetitive behaviors or interests	23230	VPS13A	ORPHA:2388
HP:0031432	Restricted or repetitive behaviors or interests	3067	HDC	OMIM:137580
HP:0031432	Restricted or repetitive behaviors or interests	114798	SLITRK1	OMIM:137580
HP:0031432	Restricted or repetitive behaviors or interests	80025	PANK2	OMIM:234200
HP:0031432	Restricted or repetitive behaviors or interests	7337	UBE3A	ORPHA:98794
HP:0031432	Restricted or repetitive behaviors or interests	7337	UBE3A	ORPHA:98795
HP:0031432	Restricted or repetitive behaviors or interests	7337	UBE3A	ORPHA:411511
HP:0031432	Restricted or repetitive behaviors or interests	2898	GRIK2	OMIM:619580
HP:0031432	Restricted or repetitive behaviors or interests	6792	CDKL5	ORPHA:3095
HP:0031432	Restricted or repetitive behaviors or interests	22854	NTNG1	ORPHA:3095
HP:0031432	Restricted or repetitive behaviors or interests	9568	GABBR2	ORPHA:3095
HP:0031432	Restricted or repetitive behaviors or interests	4204	MECP2	ORPHA:3095
HP:0031432	Restricted or repetitive behaviors or interests	8243	SMC1A	ORPHA:3095
HP:0031432	Restricted or repetitive behaviors or interests	56992	KIF15	ORPHA:261323
HP:0031432	Restricted or repetitive behaviors or interests	132158	GLYCTK	OMIM:220120
HP:0031432	Restricted or repetitive behaviors or interests	2290	FOXG1	OMIM:613454
HP:0031432	Restricted or repetitive behaviors or interests	673	BRAF	OMIM:115150
HP:0031432	Restricted or repetitive behaviors or interests	1644	DDC	OMIM:608643
HP:0031432	Restricted or repetitive behaviors or interests	85358	SHANK3	OMIM:606232
HP:0031432	Restricted or repetitive behaviors or interests	51111	KMT5B	OMIM:617788
HP:0031434	Abnormal prosody	57190	SELENON	ORPHA:324604
HP:0031434	Abnormal prosody	57190	SELENON	OMIM:602771
HP:0031434	Abnormal prosody	4625	MYH7	ORPHA:324604
HP:0031434	Abnormal prosody	7273	TTN	ORPHA:324604
HP:0031434	Abnormal prosody	5034	P4HB	OMIM:112240
HP:0031434	Abnormal prosody	26580	BSCL2	OMIM:269700
HP:0031434	Abnormal prosody	22880	MORC2	OMIM:616688
HP:0031434	Abnormal prosody	22880	MORC2	ORPHA:466768
HP:0031434	Abnormal prosody	3704	ITPA	OMIM:616647
HP:0031434	Abnormal prosody	9719	ADAMTSL2	OMIM:231050
HP:0031434	Abnormal prosody	4591	TRIM37	ORPHA:2576
HP:0031434	Abnormal prosody	4591	TRIM37	OMIM:253250
HP:0031434	Abnormal prosody	2887	GRB10	ORPHA:96182
HP:0031434	Abnormal prosody	4000	LMNA	ORPHA:740
HP:0031434	Abnormal prosody	10269	ZMPSTE24	ORPHA:740
HP:0031434	Abnormal prosody	5932	RBBP8	OMIM:606744
HP:0031434	Abnormal prosody	54453	RIN2	ORPHA:217335
HP:0031434	Abnormal prosody	54453	RIN2	OMIM:613075
HP:0031434	Abnormal prosody	9871	SEC24D	OMIM:616294
HP:0031434	Abnormal prosody	2690	GHR	OMIM:262500
HP:0031434	Abnormal prosody	2690	GHR	ORPHA:633
HP:0031434	Abnormal prosody	10651	MTX2	OMIM:619127
HP:0031434	Abnormal prosody	367	AR	ORPHA:90797
HP:0031434	Abnormal prosody	641	BLM	OMIM:210900
HP:0031434	Abnormal prosody	10847	SRCAP	ORPHA:2044
HP:0031434	Abnormal prosody	50485	SMARCAL1	OMIM:242900
HP:0031434	Abnormal prosody	7486	WRN	OMIM:277700
HP:0031434	Abnormal prosody	9968	MED12	OMIM:305450
HP:0031434	Abnormal prosody	84919	PPP1R15B	OMIM:616817
HP:0031434	Abnormal prosody	84919	PPP1R15B	ORPHA:391408
HP:0031434	Abnormal prosody	93587	TRMT10A	ORPHA:391408
HP:0031434	Abnormal prosody	6777	STAT5B	OMIM:245590
HP:0031434	Abnormal prosody	57492	ARID1B	OMIM:135900
HP:0031434	Abnormal prosody	2332	FMR1	ORPHA:261483
HP:0031434	Abnormal prosody	7518	XRCC4	OMIM:616541
HP:0031434	Abnormal prosody	4193	MDM2	OMIM:618681
HP:0031434	Abnormal prosody	5116	PCNT	ORPHA:2637
HP:0031434	Abnormal prosody	5116	PCNT	OMIM:210720
HP:0031434	Abnormal prosody	51594	NBAS	OMIM:614800
HP:0031434	Abnormal prosody	63901	FAM111A	OMIM:127000
HP:0031434	Abnormal prosody	63901	FAM111A	ORPHA:93325
HP:0031434	Abnormal prosody	3339	HSPG2	OMIM:255800
HP:0031434	Abnormal prosody	3339	HSPG2	ORPHA:800
HP:0031434	Abnormal prosody	2072	ERCC4	OMIM:610965
HP:0031434	Abnormal prosody	9927	MFN2	OMIM:617087
HP:0031434	Abnormal prosody	5424	POLD1	OMIM:615381
HP:0031434	Abnormal prosody	1501	CTNND2	ORPHA:281
HP:0031434	Abnormal prosody	9037	SEMA5A	ORPHA:281
HP:0031434	Abnormal prosody	127833	SYT2	OMIM:619461
HP:0031434	Abnormal prosody	1140	CHRNB1	OMIM:616313
HP:0031434	Abnormal prosody	5000	ORC4	OMIM:613800
HP:0031434	Abnormal prosody	25886	POC1A	OMIM:614813
HP:0031434	Abnormal prosody	871	SERPINH1	OMIM:613848
HP:0031434	Abnormal prosody	3480	IGF1R	OMIM:270450
HP:0031434	Abnormal prosody	23476	BRD4	ORPHA:199
HP:0031434	Abnormal prosody	9126	SMC3	ORPHA:199
HP:0031434	Abnormal prosody	8243	SMC1A	ORPHA:199
HP:0031434	Abnormal prosody	25836	NIPBL	ORPHA:199
HP:0031434	Abnormal prosody	55869	HDAC8	ORPHA:199
HP:0031434	Abnormal prosody	5885	RAD21	ORPHA:199
HP:0031434	Abnormal prosody	27286	SRPX2	ORPHA:163721
HP:0031434	Abnormal prosody	2903	GRIN2A	ORPHA:163721
HP:0031434	Abnormal prosody	7227	TRPS1	OMIM:190350
HP:0031434	Abnormal prosody	2146	EZH2	OMIM:277590
HP:0031434	Abnormal prosody	2146	EZH2	ORPHA:3447
HP:0031434	Abnormal prosody	64324	NSD1	ORPHA:3447
HP:0031434	Abnormal prosody	8726	EED	ORPHA:3447
HP:0031434	Abnormal prosody	23512	SUZ12	ORPHA:3447
HP:0031434	Abnormal prosody	4535	MT-ND1	ORPHA:255210
HP:0031434	Abnormal prosody	4536	MT-ND2	ORPHA:255210
HP:0031434	Abnormal prosody	4537	MT-ND3	ORPHA:255210
HP:0031434	Abnormal prosody	4538	MT-ND4	ORPHA:255210
HP:0031434	Abnormal prosody	4567	MT-TL1	ORPHA:255210
HP:0031434	Abnormal prosody	4578	MT-TW	ORPHA:255210
HP:0031434	Abnormal prosody	4577	MT-TV	ORPHA:255210
HP:0031434	Abnormal prosody	4508	MT-ATP6	ORPHA:255210
HP:0031434	Abnormal prosody	4540	MT-ND5	ORPHA:255210
HP:0031434	Abnormal prosody	4541	MT-ND6	ORPHA:255210
HP:0031434	Abnormal prosody	4566	MT-TK	ORPHA:255210
HP:0031434	Abnormal prosody	93986	FOXP2	ORPHA:209908
HP:0031434	Abnormal prosody	2629	GBA1	ORPHA:411602
HP:0031434	Abnormal prosody	23317	DNAJC13	ORPHA:411602
HP:0031434	Abnormal prosody	1981	EIF4G1	ORPHA:411602
HP:0031434	Abnormal prosody	55737	VPS35	ORPHA:411602
HP:0031434	Abnormal prosody	120892	LRRK2	ORPHA:411602
HP:0031434	Abnormal prosody	26058	GIGYF2	ORPHA:411602
HP:0031434	Abnormal prosody	6622	SNCA	ORPHA:411602
HP:0031434	Abnormal prosody	6622	SNCA	ORPHA:171695
HP:0031434	Abnormal prosody	25793	FBXO7	ORPHA:171695
HP:0031434	Abnormal prosody	25793	FBXO7	OMIM:260300
HP:0031434	Abnormal prosody	55280	CWF19L1	ORPHA:453521
HP:0031434	Abnormal prosody	4137	MAPT	ORPHA:240094
HP:0031435	Monotonic speech	2629	GBA1	ORPHA:411602
HP:0031435	Monotonic speech	23317	DNAJC13	ORPHA:411602
HP:0031435	Monotonic speech	1981	EIF4G1	ORPHA:411602
HP:0031435	Monotonic speech	55737	VPS35	ORPHA:411602
HP:0031435	Monotonic speech	120892	LRRK2	ORPHA:411602
HP:0031435	Monotonic speech	26058	GIGYF2	ORPHA:411602
HP:0031435	Monotonic speech	6622	SNCA	ORPHA:411602
HP:0031435	Monotonic speech	6622	SNCA	ORPHA:171695
HP:0031435	Monotonic speech	25793	FBXO7	ORPHA:171695
HP:0031435	Monotonic speech	25793	FBXO7	OMIM:260300
HP:0031435	Monotonic speech	55280	CWF19L1	ORPHA:453521
HP:0100550	Tendon rupture	3081	HGD	ORPHA:56
HP:0100550	Tendon rupture	64135	IFIH1	OMIM:182250
HP:0100550	Tendon rupture	7276	TTR	ORPHA:85451
HP:0100550	Tendon rupture	11117	EMILIN1	OMIM:620080
HP:0100550	Tendon rupture	1278	COL1A2	ORPHA:230851
HP:0100552	Neoplasm of the tracheobronchial system	6440	SFTPC	OMIM:178500
HP:0100552	Neoplasm of the tracheobronchial system	727897	MUC5B	OMIM:178500
HP:0100552	Neoplasm of the tracheobronchial system	729238	SFTPA2	OMIM:178500
HP:0100552	Neoplasm of the tracheobronchial system	7015	TERT	OMIM:178500
HP:0100552	Neoplasm of the tracheobronchial system	5071	PRKN	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	3845	KRAS	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	3659	IRF1	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	5002	SLC22A18	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	2074	ERCC6	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	5290	PIK3CA	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	1956	EGFR	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	1548	CYP2A6	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	2064	ERBB2	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	356	FASLG	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	5519	PPP2R1B	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	841	CASP8	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	1326	MAP3K8	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	673	BRAF	OMIM:211980
HP:0100552	Neoplasm of the tracheobronchial system	1288	COL4A6	ORPHA:1018
HP:0100552	Neoplasm of the tracheobronchial system	1287	COL4A5	ORPHA:1018
HP:0100552	Neoplasm of the tracheobronchial system	23405	DICER1	OMIM:601200
HP:0100552	Neoplasm of the tracheobronchial system	23405	DICER1	OMIM:180295
HP:0100552	Neoplasm of the tracheobronchial system	23405	DICER1	ORPHA:276399
HP:0100552	Neoplasm of the tracheobronchial system	9817	KEAP1	ORPHA:276399
HP:0100553	Hemihypertrophy of lower limb	5921	RASA1	ORPHA:90307
HP:0100555	Asymmetric growth	374879	ZNF699	OMIM:619488
HP:0100555	Asymmetric growth	54941	RNF125	OMIM:616260
HP:0100555	Asymmetric growth	10984	KCNQ1OT1	OMIM:130650
HP:0100555	Asymmetric growth	10984	KCNQ1OT1	ORPHA:2128
HP:0100555	Asymmetric growth	3784	KCNQ1	OMIM:130650
HP:0100555	Asymmetric growth	1788	DNMT3A	OMIM:615879
HP:0100555	Asymmetric growth	208	AKT2	OMIM:240900
HP:0100555	Asymmetric growth	208	AKT2	ORPHA:293964
HP:0100555	Asymmetric growth	6928	HNF1B	ORPHA:1309
HP:0100555	Asymmetric growth	5921	RASA1	ORPHA:90307
HP:0100555	Asymmetric growth	2131	EXT1	ORPHA:321
HP:0100555	Asymmetric growth	2132	EXT2	ORPHA:321
HP:0100555	Asymmetric growth	8517	IKBKG	ORPHA:464
HP:0100555	Asymmetric growth	2887	GRB10	ORPHA:96182
HP:0100555	Asymmetric growth	3481	IGF2	ORPHA:231140
HP:0100555	Asymmetric growth	3481	IGF2	ORPHA:397590
HP:0100555	Asymmetric growth	283120	H19	ORPHA:231140
HP:0100555	Asymmetric growth	3845	KRAS	ORPHA:2612
HP:0100555	Asymmetric growth	4893	NRAS	ORPHA:2612
HP:0100555	Asymmetric growth	1028	CDKN1C	ORPHA:397590
HP:0100555	Asymmetric growth	5324	PLAG1	ORPHA:397590
HP:0100555	Asymmetric growth	8091	HMGA2	ORPHA:397590
HP:0100555	Asymmetric growth	5290	PIK3CA	ORPHA:60040
HP:0100555	Asymmetric growth	2767	GNA11	ORPHA:1556
HP:0100555	Asymmetric growth	151188	ARL6IP6	ORPHA:1556
HP:0100555	Asymmetric growth	5728	PTEN	ORPHA:744
HP:0100555	Asymmetric growth	207	AKT1	ORPHA:744
HP:0100555	Asymmetric growth	10682	EBP	OMIM:302960
HP:0100555	Asymmetric growth	3265	HRAS	ORPHA:2874
HP:0100555	Asymmetric growth	23314	SATB2	ORPHA:576283
HP:0100555	Asymmetric growth	1758	DMP1	ORPHA:289176
HP:0100555	Asymmetric growth	5167	ENPP1	ORPHA:289176
HP:0100555	Asymmetric growth	64840	PORCN	ORPHA:2092
HP:0100555	Asymmetric growth	59341	TRPV4	ORPHA:86820
HP:0100555	Asymmetric growth	1280	COL2A1	ORPHA:86820
HP:0100555	Asymmetric growth	1280	COL2A1	ORPHA:93315
HP:0100555	Asymmetric growth	1280	COL2A1	ORPHA:85198
HP:0100555	Asymmetric growth	2335	FN1	ORPHA:93315
HP:0100555	Asymmetric growth	7994	KAT6A	OMIM:616268
HP:0100555	Asymmetric growth	60	ACTB	ORPHA:64755
HP:0100555	Asymmetric growth	55109	AGGF1	ORPHA:90308
HP:0100555	Asymmetric growth	5590	PRKCZ	ORPHA:1606
HP:0100555	Asymmetric growth	2563	GABRD	ORPHA:1606
HP:0100555	Asymmetric growth	23013	SPEN	ORPHA:1606
HP:0100555	Asymmetric growth	8510	MMP23B	ORPHA:1606
HP:0100555	Asymmetric growth	7798	LUZP1	ORPHA:1606
HP:0100555	Asymmetric growth	6497	SKI	ORPHA:1606
HP:0100555	Asymmetric growth	10630	PDPN	ORPHA:1606
HP:0100555	Asymmetric growth	3339	HSPG2	ORPHA:1606
HP:0100555	Asymmetric growth	10277	UBE4B	ORPHA:1606
HP:0100555	Asymmetric growth	8514	KCNAB2	ORPHA:1606
HP:0100555	Asymmetric growth	473	RERE	ORPHA:1606
HP:0100555	Asymmetric growth	63976	PRDM16	ORPHA:1606
HP:0100555	Asymmetric growth	54897	CASZ1	ORPHA:1606
HP:0100555	Asymmetric growth	4796	TONSL	ORPHA:93357
HP:0100555	Asymmetric growth	2776	GNAQ	ORPHA:624
HP:0100555	Asymmetric growth	55209	SETD5	ORPHA:404440
HP:0100555	Asymmetric growth	55209	SETD5	OMIM:615761
HP:0100555	Asymmetric growth	1513	CTSK	ORPHA:763
HP:0100555	Asymmetric growth	8239	USP9X	OMIM:300968
HP:0100555	Asymmetric growth	5594	MAPK1	OMIM:619087
HP:0100555	Asymmetric growth	3110	MNX1	ORPHA:1552
HP:0100555	Asymmetric growth	203068	TUBB	ORPHA:2505
HP:0100555	Asymmetric growth	10982	MAPRE2	ORPHA:2505
HP:0100555	Asymmetric growth	6299	SALL1	ORPHA:857
HP:0100555	Asymmetric growth	51339	DACT1	ORPHA:857
HP:0100555	Asymmetric growth	23592	LEMD3	OMIM:166700
HP:0100555	Asymmetric growth	5744	PTHLH	ORPHA:93387
HP:0100555	Asymmetric growth	3239	HOXD13	ORPHA:93387
HP:0100555	Asymmetric growth	1947	EFNB1	OMIM:304110
HP:0100555	Asymmetric growth	5718	PSMD12	ORPHA:529962
HP:0100555	Asymmetric growth	2186	BPTF	ORPHA:529962
HP:0100559	Lower limb asymmetry	5921	RASA1	ORPHA:90307
HP:0100559	Lower limb asymmetry	23314	SATB2	ORPHA:576283
HP:0100559	Lower limb asymmetry	5290	PIK3CA	OMIM:612918
HP:0100559	Lower limb asymmetry	1758	DMP1	ORPHA:289176
HP:0100559	Lower limb asymmetry	5167	ENPP1	ORPHA:289176
HP:0100559	Lower limb asymmetry	64840	PORCN	ORPHA:2092
HP:0100559	Lower limb asymmetry	59341	TRPV4	ORPHA:86820
HP:0100559	Lower limb asymmetry	1280	COL2A1	ORPHA:86820
HP:0100559	Lower limb asymmetry	1280	COL2A1	ORPHA:93315
HP:0100559	Lower limb asymmetry	1280	COL2A1	ORPHA:85198
HP:0100559	Lower limb asymmetry	2335	FN1	ORPHA:93315
HP:0100559	Lower limb asymmetry	7994	KAT6A	OMIM:616268
HP:0100559	Lower limb asymmetry	60	ACTB	ORPHA:64755
HP:0100559	Lower limb asymmetry	55109	AGGF1	ORPHA:90308
HP:0100559	Lower limb asymmetry	5590	PRKCZ	ORPHA:1606
HP:0100559	Lower limb asymmetry	2563	GABRD	ORPHA:1606
HP:0100559	Lower limb asymmetry	23013	SPEN	ORPHA:1606
HP:0100559	Lower limb asymmetry	8510	MMP23B	ORPHA:1606
HP:0100559	Lower limb asymmetry	7798	LUZP1	ORPHA:1606
HP:0100559	Lower limb asymmetry	6497	SKI	ORPHA:1606
HP:0100559	Lower limb asymmetry	10630	PDPN	ORPHA:1606
HP:0100559	Lower limb asymmetry	3339	HSPG2	ORPHA:1606
HP:0100559	Lower limb asymmetry	10277	UBE4B	ORPHA:1606
HP:0100559	Lower limb asymmetry	8514	KCNAB2	ORPHA:1606
HP:0100559	Lower limb asymmetry	473	RERE	ORPHA:1606
HP:0100559	Lower limb asymmetry	63976	PRDM16	ORPHA:1606
HP:0100559	Lower limb asymmetry	54897	CASZ1	ORPHA:1606
HP:0100559	Lower limb asymmetry	4796	TONSL	ORPHA:93357
HP:0100559	Lower limb asymmetry	2776	GNAQ	ORPHA:624
HP:0100559	Lower limb asymmetry	5728	PTEN	ORPHA:744
HP:0100559	Lower limb asymmetry	5728	PTEN	ORPHA:2969
HP:0100559	Lower limb asymmetry	5728	PTEN	ORPHA:137608
HP:0100559	Lower limb asymmetry	207	AKT1	ORPHA:744
HP:0100559	Lower limb asymmetry	55209	SETD5	ORPHA:404440
HP:0100559	Lower limb asymmetry	55209	SETD5	OMIM:615761
HP:0100559	Lower limb asymmetry	2131	EXT1	ORPHA:321
HP:0100559	Lower limb asymmetry	2132	EXT2	ORPHA:321
HP:0100559	Lower limb asymmetry	1513	CTSK	ORPHA:763
HP:0100559	Lower limb asymmetry	2887	GRB10	ORPHA:96182
HP:0100559	Lower limb asymmetry	3481	IGF2	ORPHA:231140
HP:0100559	Lower limb asymmetry	283120	H19	ORPHA:231140
HP:0100559	Lower limb asymmetry	3845	KRAS	OMIM:600268
HP:0100559	Lower limb asymmetry	8239	USP9X	OMIM:300968
HP:0100559	Lower limb asymmetry	5594	MAPK1	OMIM:619087
HP:0100559	Lower limb asymmetry	10682	EBP	ORPHA:35173
HP:0100559	Lower limb asymmetry	3110	MNX1	ORPHA:1552
HP:0100559	Lower limb asymmetry	203068	TUBB	ORPHA:2505
HP:0100559	Lower limb asymmetry	10982	MAPRE2	ORPHA:2505
HP:0100559	Lower limb asymmetry	6299	SALL1	ORPHA:857
HP:0100559	Lower limb asymmetry	51339	DACT1	ORPHA:857
HP:0100559	Lower limb asymmetry	23592	LEMD3	OMIM:166700
HP:0011020	Abnormality of mucopolysaccharide metabolism	138050	HGSNAT	OMIM:252930
HP:0011020	Abnormality of mucopolysaccharide metabolism	2799	GNS	OMIM:252940
HP:0011020	Abnormality of mucopolysaccharide metabolism	57192	MCOLN1	ORPHA:578
HP:0011020	Abnormality of mucopolysaccharide metabolism	57192	MCOLN1	OMIM:252650
HP:0011020	Abnormality of mucopolysaccharide metabolism	5286	PIK3C2A	ORPHA:557003
HP:0011024	Abnormality of the gastrointestinal tract	84172	POLR1B	ORPHA:861
HP:0011024	Abnormality of the gastrointestinal tract	9533	POLR1C	ORPHA:861
HP:0011024	Abnormality of the gastrointestinal tract	51082	POLR1D	ORPHA:861
HP:0011024	Abnormality of the gastrointestinal tract	6949	TCOF1	ORPHA:861
HP:0011024	Abnormality of the gastrointestinal tract	3043	HBB	ORPHA:231214
HP:0011024	Abnormality of the gastrointestinal tract	3043	HBB	ORPHA:231222
HP:0011024	Abnormality of the gastrointestinal tract	3043	HBB	ORPHA:231226
HP:0011024	Abnormality of the gastrointestinal tract	83932	SPRTN	OMIM:616200
HP:0011024	Abnormality of the gastrointestinal tract	8647	ABCB11	OMIM:601847
HP:0011024	Abnormality of the gastrointestinal tract	2538	G6PC1	OMIM:232200
HP:0011024	Abnormality of the gastrointestinal tract	4358	MPV17	OMIM:256810
HP:0011024	Abnormality of the gastrointestinal tract	654	BMP6	ORPHA:465508
HP:0011024	Abnormality of the gastrointestinal tract	5836	PYGL	ORPHA:369
HP:0011024	Abnormality of the gastrointestinal tract	191	AHCY	ORPHA:88618
HP:0011024	Abnormality of the gastrointestinal tract	4233	MET	OMIM:114550
HP:0011024	Abnormality of the gastrointestinal tract	8312	AXIN1	OMIM:114550
HP:0011024	Abnormality of the gastrointestinal tract	841	CASP8	OMIM:114550
HP:0011024	Abnormality of the gastrointestinal tract	3482	IGF2R	OMIM:114550
HP:0011024	Abnormality of the gastrointestinal tract	55340	GIMAP5	OMIM:619463
HP:0011024	Abnormality of the gastrointestinal tract	7289	TULP3	OMIM:619902
HP:0011024	Abnormality of the gastrointestinal tract	7389	UROD	OMIM:176100
HP:0011024	Abnormality of the gastrointestinal tract	650	BMP2	OMIM:235200
HP:0011024	Abnormality of the gastrointestinal tract	9791	PTDSS1	OMIM:151050
HP:0011024	Abnormality of the gastrointestinal tract	23512	SUZ12	OMIM:618786
HP:0011024	Abnormality of the gastrointestinal tract	22800	RRAS2	OMIM:618624
HP:0011024	Abnormality of the gastrointestinal tract	1857	DVL3	OMIM:616894
HP:0011024	Abnormality of the gastrointestinal tract	8942	KYNU	OMIM:617661
HP:0011024	Abnormality of the gastrointestinal tract	1108	CHD4	OMIM:617159
HP:0011024	Abnormality of the gastrointestinal tract	157570	ESCO2	ORPHA:2319
HP:0011024	Abnormality of the gastrointestinal tract	157570	ESCO2	OMIM:216100
HP:0011024	Abnormality of the gastrointestinal tract	1656	DDX6	OMIM:618653
HP:0011024	Abnormality of the gastrointestinal tract	26005	C2CD3	OMIM:615948
HP:0011024	Abnormality of the gastrointestinal tract	1497	CTNS	OMIM:219800
HP:0011024	Abnormality of the gastrointestinal tract	2673	GFPT1	OMIM:608931
HP:0011024	Abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:608931
HP:0011024	Abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:605809
HP:0011024	Abnormality of the gastrointestinal tract	1410	CRYAB	OMIM:608810
HP:0011024	Abnormality of the gastrointestinal tract	1410	CRYAB	ORPHA:399058
HP:0011024	Abnormality of the gastrointestinal tract	4287	ATXN3	OMIM:109150
HP:0011024	Abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276238
HP:0011024	Abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276244
HP:0011024	Abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276241
HP:0011024	Abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:614381
HP:0011024	Abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:607694
HP:0011024	Abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616321
HP:0011024	Abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616323
HP:0011024	Abnormality of the gastrointestinal tract	4750	NEK1	OMIM:617892
HP:0011024	Abnormality of the gastrointestinal tract	23446	SLC44A1	OMIM:618868
HP:0011024	Abnormality of the gastrointestinal tract	4593	MUSK	OMIM:616325
HP:0011024	Abnormality of the gastrointestinal tract	2720	GLB1	OMIM:230600
HP:0011024	Abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:608930
HP:0011024	Abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:601462
HP:0011024	Abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:247604
HP:0011024	Abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:280384
HP:0011024	Abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:209951
HP:0011024	Abnormality of the gastrointestinal tract	9499	MYOT	ORPHA:266
HP:0011024	Abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:99013
HP:0011024	Abnormality of the gastrointestinal tract	6687	SPG7	OMIM:607259
HP:0011024	Abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:35689
HP:0011024	Abnormality of the gastrointestinal tract	8291	DYSF	ORPHA:268
HP:0011024	Abnormality of the gastrointestinal tract	4535	MT-ND1	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4536	MT-ND2	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4537	MT-ND3	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4538	MT-ND4	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4578	MT-TW	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4577	MT-TV	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4540	MT-ND5	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	4541	MT-ND6	ORPHA:255210
HP:0011024	Abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309162
HP:0011024	Abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309169
HP:0011024	Abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:143
HP:0011024	Abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:99880
HP:0011024	Abnormality of the gastrointestinal tract	6536	SLC6A9	OMIM:617301
HP:0011024	Abnormality of the gastrointestinal tract	10528	NOP56	OMIM:614153
HP:0011024	Abnormality of the gastrointestinal tract	10528	NOP56	ORPHA:276198
HP:0011024	Abnormality of the gastrointestinal tract	101060691	NUTM2B-AS1	OMIM:618637
HP:0011024	Abnormality of the gastrointestinal tract	1841	DTYMK	OMIM:619847
HP:0011024	Abnormality of the gastrointestinal tract	790	CAD	OMIM:616457
HP:0011024	Abnormality of the gastrointestinal tract	8575	PRKRA	ORPHA:210571
HP:0011024	Abnormality of the gastrointestinal tract	8575	PRKRA	OMIM:612067
HP:0011024	Abnormality of the gastrointestinal tract	348	APOE	OMIM:607822
HP:0011024	Abnormality of the gastrointestinal tract	5663	PSEN1	OMIM:607822
HP:0011024	Abnormality of the gastrointestinal tract	215	ABCD1	ORPHA:139396
HP:0011024	Abnormality of the gastrointestinal tract	7343	UBTF	OMIM:617672
HP:0011024	Abnormality of the gastrointestinal tract	7343	UBTF	ORPHA:500180
HP:0011024	Abnormality of the gastrointestinal tract	10352	WARS2	OMIM:619738
HP:0011024	Abnormality of the gastrointestinal tract	10352	WARS2	ORPHA:572798
HP:0011024	Abnormality of the gastrointestinal tract	3064	HTT	OMIM:617435
HP:0011024	Abnormality of the gastrointestinal tract	10939	AFG3L2	ORPHA:313772
HP:0011024	Abnormality of the gastrointestinal tract	10939	AFG3L2	OMIM:614487
HP:0011024	Abnormality of the gastrointestinal tract	83480	PUS3	ORPHA:488627
HP:0011024	Abnormality of the gastrointestinal tract	5621	PRNP	OMIM:600072
HP:0011024	Abnormality of the gastrointestinal tract	10049	DNAJB6	ORPHA:34516
HP:0011024	Abnormality of the gastrointestinal tract	10049	DNAJB6	OMIM:603511
HP:0011024	Abnormality of the gastrointestinal tract	4620	MYH2	OMIM:605637
HP:0011024	Abnormality of the gastrointestinal tract	10935	PRDX3	OMIM:619862
HP:0011024	Abnormality of the gastrointestinal tract	246243	RNASEH1	OMIM:616479
HP:0011024	Abnormality of the gastrointestinal tract	246243	RNASEH1	ORPHA:329336
HP:0011024	Abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:2822
HP:0011024	Abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:300605
HP:0011024	Abnormality of the gastrointestinal tract	80208	SPG11	OMIM:604360
HP:0011024	Abnormality of the gastrointestinal tract	2783	GNB2	OMIM:619503
HP:0011024	Abnormality of the gastrointestinal tract	950	SCARB2	OMIM:254900
HP:0011024	Abnormality of the gastrointestinal tract	8398	PLA2G6	ORPHA:199351
HP:0011024	Abnormality of the gastrointestinal tract	8398	PLA2G6	OMIM:610217
HP:0011024	Abnormality of the gastrointestinal tract	8622	PDE8B	ORPHA:228169
HP:0011024	Abnormality of the gastrointestinal tract	3572	IL6ST	OMIM:619751
HP:0011024	Abnormality of the gastrointestinal tract	2911	GRM1	OMIM:617691
HP:0011024	Abnormality of the gastrointestinal tract	23259	DDHD2	OMIM:615033
HP:0011024	Abnormality of the gastrointestinal tract	23259	DDHD2	ORPHA:320380
HP:0011024	Abnormality of the gastrointestinal tract	54902	TTC19	OMIM:615157
HP:0011024	Abnormality of the gastrointestinal tract	2643	GCH1	OMIM:233910
HP:0011024	Abnormality of the gastrointestinal tract	55823	VPS11	OMIM:619637
HP:0011024	Abnormality of the gastrointestinal tract	8659	ALDH4A1	ORPHA:79101
HP:0011024	Abnormality of the gastrointestinal tract	1180	CLCN1	OMIM:255700
HP:0011024	Abnormality of the gastrointestinal tract	58	ACTA1	OMIM:161800
HP:0011024	Abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:171433
HP:0011024	Abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:171430
HP:0011024	Abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	5860	QDPR	ORPHA:226
HP:0011024	Abnormality of the gastrointestinal tract	5860	QDPR	OMIM:261630
HP:0011024	Abnormality of the gastrointestinal tract	7750	ZMYM2	OMIM:619522
HP:0011024	Abnormality of the gastrointestinal tract	56947	MFF	ORPHA:485421
HP:0011024	Abnormality of the gastrointestinal tract	56947	MFF	OMIM:617086
HP:0011024	Abnormality of the gastrointestinal tract	10342	TFG	ORPHA:90117
HP:0011024	Abnormality of the gastrointestinal tract	57462	MYORG	OMIM:618317
HP:0011024	Abnormality of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0011024	Abnormality of the gastrointestinal tract	4626	MYH8	OMIM:158300
HP:0011024	Abnormality of the gastrointestinal tract	57724	EPG5	OMIM:242840
HP:0011024	Abnormality of the gastrointestinal tract	1436	CSF1R	OMIM:221820
HP:0011024	Abnormality of the gastrointestinal tract	5354	PLP1	OMIM:312080
HP:0011024	Abnormality of the gastrointestinal tract	4123	MAN2C1	OMIM:619775
HP:0011024	Abnormality of the gastrointestinal tract	339855	KY	OMIM:617114
HP:0011024	Abnormality of the gastrointestinal tract	339855	KY	ORPHA:496689
HP:0011024	Abnormality of the gastrointestinal tract	79977	GRHL2	OMIM:616029
HP:0011024	Abnormality of the gastrointestinal tract	23499	MACF1	OMIM:618325
HP:0011024	Abnormality of the gastrointestinal tract	23499	MACF1	ORPHA:572013
HP:0011024	Abnormality of the gastrointestinal tract	2055	CLN8	ORPHA:1947
HP:0011024	Abnormality of the gastrointestinal tract	5837	PYGM	ORPHA:368
HP:0011024	Abnormality of the gastrointestinal tract	2512	FTL	ORPHA:157846
HP:0011024	Abnormality of the gastrointestinal tract	2512	FTL	OMIM:606159
HP:0011024	Abnormality of the gastrointestinal tract	10533	ATG7	OMIM:619422
HP:0011024	Abnormality of the gastrointestinal tract	51117	COQ4	OMIM:616276
HP:0011024	Abnormality of the gastrointestinal tract	120	ADD3	OMIM:617008
HP:0011024	Abnormality of the gastrointestinal tract	27429	HTRA2	OMIM:617248
HP:0011024	Abnormality of the gastrointestinal tract	5081	PAX7	OMIM:618578
HP:0011024	Abnormality of the gastrointestinal tract	1674	DES	OMIM:181400
HP:0011024	Abnormality of the gastrointestinal tract	79751	SLC25A22	ORPHA:1935
HP:0011024	Abnormality of the gastrointestinal tract	150094	SIK1	ORPHA:1935
HP:0011024	Abnormality of the gastrointestinal tract	2639	GCDH	ORPHA:25
HP:0011024	Abnormality of the gastrointestinal tract	4487	MSX1	ORPHA:141291
HP:0011024	Abnormality of the gastrointestinal tract	5818	NECTIN1	ORPHA:141291
HP:0011024	Abnormality of the gastrointestinal tract	3664	IRF6	ORPHA:141291
HP:0011024	Abnormality of the gastrointestinal tract	353116	RILPL1	OMIM:619790
HP:0011024	Abnormality of the gastrointestinal tract	23111	SPART	OMIM:275900
HP:0011024	Abnormality of the gastrointestinal tract	23111	SPART	ORPHA:101000
HP:0011024	Abnormality of the gastrointestinal tract	4137	MAPT	OMIM:601104
HP:0011024	Abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240112
HP:0011024	Abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240103
HP:0011024	Abnormality of the gastrointestinal tract	4137	MAPT	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	2775	GNAO1	OMIM:617493
HP:0011024	Abnormality of the gastrointestinal tract	56896	DPYSL5	OMIM:619435
HP:0011024	Abnormality of the gastrointestinal tract	54892	NCAPG2	OMIM:618460
HP:0011024	Abnormality of the gastrointestinal tract	79912	PYROXD1	OMIM:617258
HP:0011024	Abnormality of the gastrointestinal tract	4719	NDUFS1	OMIM:618226
HP:0011024	Abnormality of the gastrointestinal tract	4703	NEB	OMIM:256030
HP:0011024	Abnormality of the gastrointestinal tract	4703	NEB	ORPHA:171433
HP:0011024	Abnormality of the gastrointestinal tract	4703	NEB	ORPHA:171430
HP:0011024	Abnormality of the gastrointestinal tract	91942	NDUFAF2	OMIM:618233
HP:0011024	Abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254886
HP:0011024	Abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254875
HP:0011024	Abnormality of the gastrointestinal tract	7084	TK2	OMIM:617069
HP:0011024	Abnormality of the gastrointestinal tract	81790	RNF170	OMIM:619686
HP:0011024	Abnormality of the gastrointestinal tract	84909	AOPEP	OMIM:619565
HP:0011024	Abnormality of the gastrointestinal tract	25814	ATXN10	OMIM:603516
HP:0011024	Abnormality of the gastrointestinal tract	5649	RELN	ORPHA:89844
HP:0011024	Abnormality of the gastrointestinal tract	10300	KATNB1	ORPHA:89844
HP:0011024	Abnormality of the gastrointestinal tract	54820	NDE1	ORPHA:89844
HP:0011024	Abnormality of the gastrointestinal tract	4722	NDUFS3	OMIM:618230
HP:0011024	Abnormality of the gastrointestinal tract	710	SERPING1	ORPHA:100050
HP:0011024	Abnormality of the gastrointestinal tract	387119	CEP85L	ORPHA:572013
HP:0011024	Abnormality of the gastrointestinal tract	6904	TBCD	ORPHA:496641
HP:0011024	Abnormality of the gastrointestinal tract	427	ASAH1	OMIM:159950
HP:0011024	Abnormality of the gastrointestinal tract	427	ASAH1	ORPHA:2590
HP:0011024	Abnormality of the gastrointestinal tract	10059	DNM1L	ORPHA:98673
HP:0011024	Abnormality of the gastrointestinal tract	4976	OPA1	ORPHA:98673
HP:0011024	Abnormality of the gastrointestinal tract	4976	OPA1	OMIM:210000
HP:0011024	Abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98794
HP:0011024	Abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98795
HP:0011024	Abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:411511
HP:0011024	Abnormality of the gastrointestinal tract	4948	OCA2	ORPHA:98794
HP:0011024	Abnormality of the gastrointestinal tract	5980	REV3L	ORPHA:570
HP:0011024	Abnormality of the gastrointestinal tract	23129	PLXND1	ORPHA:570
HP:0011024	Abnormality of the gastrointestinal tract	65055	REEP1	ORPHA:101011
HP:0011024	Abnormality of the gastrointestinal tract	65055	REEP1	OMIM:610250
HP:0011024	Abnormality of the gastrointestinal tract	351	APP	ORPHA:324708
HP:0011024	Abnormality of the gastrointestinal tract	56915	EXOSC5	OMIM:619576
HP:0011024	Abnormality of the gastrointestinal tract	51132	RLIM	OMIM:300978
HP:0011024	Abnormality of the gastrointestinal tract	10588	MTHFS	OMIM:618367
HP:0011024	Abnormality of the gastrointestinal tract	4704	NDUFA9	OMIM:618247
HP:0011024	Abnormality of the gastrointestinal tract	29978	UBQLN2	OMIM:300857
HP:0011024	Abnormality of the gastrointestinal tract	182	JAG1	OMIM:619574
HP:0011024	Abnormality of the gastrointestinal tract	7170	TPM3	OMIM:609284
HP:0011024	Abnormality of the gastrointestinal tract	7170	TPM3	ORPHA:171433
HP:0011024	Abnormality of the gastrointestinal tract	7170	TPM3	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	7170	TPM3	OMIM:255310
HP:0011024	Abnormality of the gastrointestinal tract	54834	GDAP2	OMIM:618369
HP:0011024	Abnormality of the gastrointestinal tract	1201	CLN3	ORPHA:228346
HP:0011024	Abnormality of the gastrointestinal tract	4864	NPC1	OMIM:257220
HP:0011024	Abnormality of the gastrointestinal tract	5277	PIGA	ORPHA:447
HP:0011024	Abnormality of the gastrointestinal tract	2131	EXT1	ORPHA:321
HP:0011024	Abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:684
HP:0011024	Abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99735
HP:0011024	Abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99736
HP:0011024	Abnormality of the gastrointestinal tract	5805	PTS	ORPHA:13
HP:0011024	Abnormality of the gastrointestinal tract	5805	PTS	OMIM:261640
HP:0011024	Abnormality of the gastrointestinal tract	51102	MECR	OMIM:617282
HP:0011024	Abnormality of the gastrointestinal tract	51102	MECR	ORPHA:508093
HP:0011024	Abnormality of the gastrointestinal tract	51324	SPG21	ORPHA:101001
HP:0011024	Abnormality of the gastrointestinal tract	51324	SPG21	OMIM:248900
HP:0011024	Abnormality of the gastrointestinal tract	5631	PRPS1	OMIM:301835
HP:0011024	Abnormality of the gastrointestinal tract	3977	LIFR	OMIM:601559
HP:0011024	Abnormality of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0011024	Abnormality of the gastrointestinal tract	2705	GJB1	OMIM:302800
HP:0011024	Abnormality of the gastrointestinal tract	4761	NEUROD2	OMIM:618374
HP:0011024	Abnormality of the gastrointestinal tract	4700	NDUFA6	OMIM:618253
HP:0011024	Abnormality of the gastrointestinal tract	51305	KCNK9	ORPHA:166108
HP:0011024	Abnormality of the gastrointestinal tract	51305	KCNK9	OMIM:612292
HP:0011024	Abnormality of the gastrointestinal tract	1200	TPP1	OMIM:609270
HP:0011024	Abnormality of the gastrointestinal tract	220296	HEPACAM	OMIM:613925
HP:0011024	Abnormality of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0011024	Abnormality of the gastrointestinal tract	3028	HSD17B10	ORPHA:391428
HP:0011024	Abnormality of the gastrointestinal tract	55975	KLHL7	OMIM:617055
HP:0011024	Abnormality of the gastrointestinal tract	2318	FLNC	ORPHA:63273
HP:0011024	Abnormality of the gastrointestinal tract	7345	UCHL1	OMIM:620221
HP:0011024	Abnormality of the gastrointestinal tract	7204	TRIO	OMIM:617061
HP:0011024	Abnormality of the gastrointestinal tract	29123	ANKRD11	ORPHA:261250
HP:0011024	Abnormality of the gastrointestinal tract	23230	VPS13A	OMIM:200150
HP:0011024	Abnormality of the gastrointestinal tract	23230	VPS13A	ORPHA:2388
HP:0011024	Abnormality of the gastrointestinal tract	498	ATP5F1A	OMIM:620358
HP:0011024	Abnormality of the gastrointestinal tract	2799	GNS	OMIM:252940
HP:0011024	Abnormality of the gastrointestinal tract	1893	ECM1	ORPHA:530
HP:0011024	Abnormality of the gastrointestinal tract	1716	DGUOK	OMIM:617070
HP:0011024	Abnormality of the gastrointestinal tract	1716	DGUOK	ORPHA:329314
HP:0011024	Abnormality of the gastrointestinal tract	10273	STUB1	ORPHA:412057
HP:0011024	Abnormality of the gastrointestinal tract	10273	STUB1	OMIM:618093
HP:0011024	Abnormality of the gastrointestinal tract	7415	VCP	OMIM:613954
HP:0011024	Abnormality of the gastrointestinal tract	7415	VCP	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	138050	HGSNAT	OMIM:252930
HP:0011024	Abnormality of the gastrointestinal tract	84081	NSRP1	OMIM:620001
HP:0011024	Abnormality of the gastrointestinal tract	5216	PFN1	OMIM:614808
HP:0011024	Abnormality of the gastrointestinal tract	1678	TIMM8A	ORPHA:52368
HP:0011024	Abnormality of the gastrointestinal tract	1678	TIMM8A	OMIM:304700
HP:0011024	Abnormality of the gastrointestinal tract	4914	NTRK1	ORPHA:642
HP:0011024	Abnormality of the gastrointestinal tract	64432	MRPS25	OMIM:619025
HP:0011024	Abnormality of the gastrointestinal tract	84842	HPDL	OMIM:619027
HP:0011024	Abnormality of the gastrointestinal tract	2747	GLUD2	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	126	ADH1C	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	4929	NR4A2	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	6908	TBP	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	6908	TBP	OMIM:607136
HP:0011024	Abnormality of the gastrointestinal tract	4576	MT-TT	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	9627	SNCAIP	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:183090
HP:0011024	Abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:168600
HP:0011024	Abnormality of the gastrointestinal tract	6315	ATXN8OS	ORPHA:98760
HP:0011024	Abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:608768
HP:0011024	Abnormality of the gastrointestinal tract	4771	NF2	ORPHA:637
HP:0011024	Abnormality of the gastrointestinal tract	6622	SNCA	OMIM:168601
HP:0011024	Abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:171695
HP:0011024	Abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	5605	MAP2K2	ORPHA:638
HP:0011024	Abnormality of the gastrointestinal tract	4763	NF1	ORPHA:638
HP:0011024	Abnormality of the gastrointestinal tract	80308	FLAD1	OMIM:255100
HP:0011024	Abnormality of the gastrointestinal tract	9782	MATR3	OMIM:606070
HP:0011024	Abnormality of the gastrointestinal tract	9782	MATR3	ORPHA:600
HP:0011024	Abnormality of the gastrointestinal tract	400916	CHCHD10	OMIM:615911
HP:0011024	Abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:276435
HP:0011024	Abnormality of the gastrointestinal tract	2521	FUS	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	2521	FUS	ORPHA:300605
HP:0011024	Abnormality of the gastrointestinal tract	8878	SQSTM1	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	8878	SQSTM1	OMIM:616437
HP:0011024	Abnormality of the gastrointestinal tract	23435	TARDBP	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	23435	TARDBP	OMIM:612069
HP:0011024	Abnormality of the gastrointestinal tract	29110	TBK1	ORPHA:275872
HP:0011024	Abnormality of the gastrointestinal tract	29110	TBK1	OMIM:616439
HP:0011024	Abnormality of the gastrointestinal tract	5111	PCNA	OMIM:615919
HP:0011024	Abnormality of the gastrointestinal tract	4758	NEU1	ORPHA:93399
HP:0011024	Abnormality of the gastrointestinal tract	79581	SLC52A2	OMIM:614707
HP:0011024	Abnormality of the gastrointestinal tract	10324	KLHL41	ORPHA:171433
HP:0011024	Abnormality of the gastrointestinal tract	10324	KLHL41	ORPHA:171430
HP:0011024	Abnormality of the gastrointestinal tract	131377	KLHL40	ORPHA:171430
HP:0011024	Abnormality of the gastrointestinal tract	131377	KLHL40	OMIM:615348
HP:0011024	Abnormality of the gastrointestinal tract	56203	LMOD3	ORPHA:171430
HP:0011024	Abnormality of the gastrointestinal tract	4010	LMX1B	ORPHA:495818
HP:0011024	Abnormality of the gastrointestinal tract	6812	STXBP1	ORPHA:495818
HP:0011024	Abnormality of the gastrointestinal tract	271	AMPD2	OMIM:615809
HP:0011024	Abnormality of the gastrointestinal tract	2483	FRG1	OMIM:158900
HP:0011024	Abnormality of the gastrointestinal tract	64207	IRF2BPL	OMIM:618088
HP:0011024	Abnormality of the gastrointestinal tract	146862	UNC45B	OMIM:619178
HP:0011024	Abnormality of the gastrointestinal tract	29967	LRP12	OMIM:164310
HP:0011024	Abnormality of the gastrointestinal tract	9570	GOSR2	OMIM:620166
HP:0011024	Abnormality of the gastrointestinal tract	26278	SACS	ORPHA:98
HP:0011024	Abnormality of the gastrointestinal tract	57190	SELENON	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	4633	MYL2	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	3679	ITGA7	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	7169	TPM2	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	9200	HACD1	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	51776	MAP3K20	ORPHA:2020
HP:0011024	Abnormality of the gastrointestinal tract	79152	FA2H	ORPHA:329308
HP:0011024	Abnormality of the gastrointestinal tract	23400	ATP13A2	ORPHA:306674
HP:0011024	Abnormality of the gastrointestinal tract	23400	ATP13A2	OMIM:606693
HP:0011024	Abnormality of the gastrointestinal tract	1641	DCX	ORPHA:2148
HP:0011024	Abnormality of the gastrointestinal tract	1600	DAB1	OMIM:615945
HP:0011024	Abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211530
HP:0011024	Abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211500
HP:0011024	Abnormality of the gastrointestinal tract	2395	FXN	ORPHA:95
HP:0011024	Abnormality of the gastrointestinal tract	23533	PIK3R5	ORPHA:64753
HP:0011024	Abnormality of the gastrointestinal tract	23064	SETX	ORPHA:64753
HP:0011024	Abnormality of the gastrointestinal tract	23064	SETX	OMIM:606002
HP:0011024	Abnormality of the gastrointestinal tract	3211	HOXB1	OMIM:614744
HP:0011024	Abnormality of the gastrointestinal tract	6507	SLC1A3	ORPHA:2131
HP:0011024	Abnormality of the gastrointestinal tract	146057	TTBK2	ORPHA:98767
HP:0011024	Abnormality of the gastrointestinal tract	3748	KCNC3	ORPHA:98768
HP:0011024	Abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:264090
HP:0011024	Abnormality of the gastrointestinal tract	11128	POLR3A	ORPHA:447896
HP:0011024	Abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:607694
HP:0011024	Abnormality of the gastrointestinal tract	80704	SLC19A3	OMIM:607483
HP:0011024	Abnormality of the gastrointestinal tract	80025	PANK2	OMIM:234200
HP:0011024	Abnormality of the gastrointestinal tract	80025	PANK2	OMIM:607236
HP:0011024	Abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216873
HP:0011024	Abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216866
HP:0011024	Abnormality of the gastrointestinal tract	92667	MGME1	ORPHA:352447
HP:0011024	Abnormality of the gastrointestinal tract	724066	ATXN8	ORPHA:98760
HP:0011024	Abnormality of the gastrointestinal tract	724066	ATXN8	OMIM:608768
HP:0011024	Abnormality of the gastrointestinal tract	492	ATP2B3	OMIM:302500
HP:0011024	Abnormality of the gastrointestinal tract	3251	HPRT1	OMIM:300322
HP:0011024	Abnormality of the gastrointestinal tract	3208	HPCA	OMIM:224500
HP:0011024	Abnormality of the gastrointestinal tract	10280	SIGMAR1	ORPHA:300605
HP:0011024	Abnormality of the gastrointestinal tract	255928	SYT14	ORPHA:284271
HP:0011024	Abnormality of the gastrointestinal tract	255928	SYT14	OMIM:614229
HP:0011024	Abnormality of the gastrointestinal tract	9440	MED17	OMIM:613668
HP:0011024	Abnormality of the gastrointestinal tract	2255	FGF10	ORPHA:2363
HP:0011024	Abnormality of the gastrointestinal tract	7443	VRK1	OMIM:607596
HP:0011024	Abnormality of the gastrointestinal tract	8106	PABPN1	OMIM:164300
HP:0011024	Abnormality of the gastrointestinal tract	6310	ATXN1	ORPHA:98755
HP:0011024	Abnormality of the gastrointestinal tract	6310	ATXN1	OMIM:164400
HP:0011024	Abnormality of the gastrointestinal tract	10133	OPTN	OMIM:613435
HP:0011024	Abnormality of the gastrointestinal tract	91574	MTRFR	OMIM:613559
HP:0011024	Abnormality of the gastrointestinal tract	85021	REPS1	OMIM:617916
HP:0011024	Abnormality of the gastrointestinal tract	3752	KCND3	OMIM:607346
HP:0011024	Abnormality of the gastrointestinal tract	6314	ATXN7	ORPHA:94147
HP:0011024	Abnormality of the gastrointestinal tract	6314	ATXN7	OMIM:164500
HP:0011024	Abnormality of the gastrointestinal tract	2776	GNAQ	ORPHA:3205
HP:0011024	Abnormality of the gastrointestinal tract	25793	FBXO7	ORPHA:171695
HP:0011024	Abnormality of the gastrointestinal tract	51067	YARS2	OMIM:613561
HP:0011024	Abnormality of the gastrointestinal tract	7407	VARS1	OMIM:617802
HP:0011024	Abnormality of the gastrointestinal tract	10382	TUBB4A	OMIM:128101
HP:0011024	Abnormality of the gastrointestinal tract	10382	TUBB4A	ORPHA:98805
HP:0011024	Abnormality of the gastrointestinal tract	23534	TNPO3	OMIM:608423
HP:0011024	Abnormality of the gastrointestinal tract	1861	TOR1A	OMIM:128100
HP:0011024	Abnormality of the gastrointestinal tract	54704	PDP1	OMIM:608782
HP:0011024	Abnormality of the gastrointestinal tract	55906	ZC4H2	OMIM:301041
HP:0011024	Abnormality of the gastrointestinal tract	2982	GUCY1A1	OMIM:615750
HP:0011024	Abnormality of the gastrointestinal tract	9420	CYP7B1	ORPHA:100986
HP:0011024	Abnormality of the gastrointestinal tract	57704	GBA2	ORPHA:352641
HP:0011024	Abnormality of the gastrointestinal tract	79587	CARS2	ORPHA:477774
HP:0011024	Abnormality of the gastrointestinal tract	2782	GNB1	OMIM:616973
HP:0011024	Abnormality of the gastrointestinal tract	79644	SRD5A3	OMIM:612379
HP:0011024	Abnormality of the gastrointestinal tract	27235	COQ2	OMIM:607426
HP:0011024	Abnormality of the gastrointestinal tract	25953	PNKD	OMIM:118800
HP:0011024	Abnormality of the gastrointestinal tract	2058	EPRS1	OMIM:617951
HP:0011024	Abnormality of the gastrointestinal tract	23317	DNAJC13	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	1981	EIF4G1	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	55737	VPS35	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	120892	LRRK2	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	26058	GIGYF2	ORPHA:411602
HP:0011024	Abnormality of the gastrointestinal tract	2917	GRM7	OMIM:618922
HP:0011024	Abnormality of the gastrointestinal tract	311	ANXA11	OMIM:617839
HP:0011024	Abnormality of the gastrointestinal tract	128989	TANGO2	ORPHA:480864
HP:0011024	Abnormality of the gastrointestinal tract	5582	PRKCG	OMIM:605361
HP:0011024	Abnormality of the gastrointestinal tract	9217	VAPB	OMIM:608627
HP:0011024	Abnormality of the gastrointestinal tract	3418	IDH2	ORPHA:163634
HP:0011024	Abnormality of the gastrointestinal tract	3417	IDH1	ORPHA:163634
HP:0011024	Abnormality of the gastrointestinal tract	79784	MYH14	ORPHA:397744
HP:0011024	Abnormality of the gastrointestinal tract	84617	TUBB6	OMIM:617732
HP:0011024	Abnormality of the gastrointestinal tract	25915	NDUFAF3	ORPHA:70474
HP:0011024	Abnormality of the gastrointestinal tract	4714	NDUFB8	ORPHA:70474
HP:0011024	Abnormality of the gastrointestinal tract	4720	NDUFS2	ORPHA:70474
HP:0011024	Abnormality of the gastrointestinal tract	9997	SCO2	ORPHA:70474
HP:0011024	Abnormality of the gastrointestinal tract	6834	SURF1	ORPHA:70474
HP:0011024	Abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363722
HP:0011024	Abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363717
HP:0011024	Abnormality of the gastrointestinal tract	122553	TRAPPC6B	OMIM:617862
HP:0011024	Abnormality of the gastrointestinal tract	28957	MRPS28	OMIM:618958
HP:0011024	Abnormality of the gastrointestinal tract	8292	COLQ	ORPHA:98915
HP:0011024	Abnormality of the gastrointestinal tract	8292	COLQ	OMIM:603034
HP:0011024	Abnormality of the gastrointestinal tract	3913	LAMB2	ORPHA:98915
HP:0011024	Abnormality of the gastrointestinal tract	51	ACOX1	OMIM:264470
HP:0011024	Abnormality of the gastrointestinal tract	51	ACOX1	OMIM:618960
HP:0011024	Abnormality of the gastrointestinal tract	10577	NPC2	OMIM:607625
HP:0011024	Abnormality of the gastrointestinal tract	8913	CACNA1G	ORPHA:458803
HP:0011024	Abnormality of the gastrointestinal tract	8913	CACNA1G	OMIM:616795
HP:0011024	Abnormality of the gastrointestinal tract	22943	DKK1	ORPHA:268882
HP:0011024	Abnormality of the gastrointestinal tract	7515	XRCC1	OMIM:617633
HP:0011024	Abnormality of the gastrointestinal tract	4359	MPZ	OMIM:607736
HP:0011024	Abnormality of the gastrointestinal tract	4747	NEFL	OMIM:607734
HP:0011024	Abnormality of the gastrointestinal tract	23394	ADNP	ORPHA:404448
HP:0011024	Abnormality of the gastrointestinal tract	23394	ADNP	OMIM:615873
HP:0011024	Abnormality of the gastrointestinal tract	26235	FBXL4	OMIM:615471
HP:0011024	Abnormality of the gastrointestinal tract	8367	H4C5	OMIM:619950
HP:0011024	Abnormality of the gastrointestinal tract	340533	NEXMIF	OMIM:300912
HP:0011024	Abnormality of the gastrointestinal tract	340533	NEXMIF	ORPHA:85277
HP:0011024	Abnormality of the gastrointestinal tract	57128	LYRM4	OMIM:615595
HP:0011024	Abnormality of the gastrointestinal tract	2132	EXT2	OMIM:616682
HP:0011024	Abnormality of the gastrointestinal tract	2132	EXT2	ORPHA:466926
HP:0011024	Abnormality of the gastrointestinal tract	8518	ELP1	ORPHA:1764
HP:0011024	Abnormality of the gastrointestinal tract	8518	ELP1	OMIM:223900
HP:0011024	Abnormality of the gastrointestinal tract	1161	ERCC8	ORPHA:90324
HP:0011024	Abnormality of the gastrointestinal tract	2074	ERCC6	ORPHA:90324
HP:0011024	Abnormality of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0011024	Abnormality of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0011024	Abnormality of the gastrointestinal tract	51008	ASCC1	OMIM:614266
HP:0011024	Abnormality of the gastrointestinal tract	5238	PGM3	ORPHA:443811
HP:0011024	Abnormality of the gastrointestinal tract	4897	NRCAM	OMIM:619833
HP:0011024	Abnormality of the gastrointestinal tract	81857	MED25	OMIM:616449
HP:0011024	Abnormality of the gastrointestinal tract	79848	CSPP1	ORPHA:397715
HP:0011024	Abnormality of the gastrointestinal tract	9786	KIAA0586	ORPHA:397715
HP:0011024	Abnormality of the gastrointestinal tract	4312	MMP1	ORPHA:79408
HP:0011024	Abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79408
HP:0011024	Abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:89842
HP:0011024	Abnormality of the gastrointestinal tract	7259	TSPYL1	OMIM:608800
HP:0011024	Abnormality of the gastrointestinal tract	7259	TSPYL1	ORPHA:168593
HP:0011024	Abnormality of the gastrointestinal tract	116931	MED12L	OMIM:618872
HP:0011024	Abnormality of the gastrointestinal tract	161582	DNAAF4	OMIM:615482
HP:0011024	Abnormality of the gastrointestinal tract	3020	H3-3A	OMIM:619720
HP:0011024	Abnormality of the gastrointestinal tract	3021	H3-3B	OMIM:619721
HP:0011024	Abnormality of the gastrointestinal tract	65993	MRPS34	OMIM:617664
HP:0011024	Abnormality of the gastrointestinal tract	80816	ASXL3	OMIM:615485
HP:0011024	Abnormality of the gastrointestinal tract	283489	CHAMP1	OMIM:616579
HP:0011024	Abnormality of the gastrointestinal tract	166378	AFG2A	OMIM:616577
HP:0011024	Abnormality of the gastrointestinal tract	84466	MEGF10	OMIM:614399
HP:0011024	Abnormality of the gastrointestinal tract	84520	GON7	OMIM:619603
HP:0011024	Abnormality of the gastrointestinal tract	9723	SEMA3E	ORPHA:138
HP:0011024	Abnormality of the gastrointestinal tract	3908	LAMA2	ORPHA:258
HP:0011024	Abnormality of the gastrointestinal tract	3980	LIG3	ORPHA:298
HP:0011024	Abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:298
HP:0011024	Abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:254892
HP:0011024	Abnormality of the gastrointestinal tract	6660	SOX5	ORPHA:313892
HP:0011024	Abnormality of the gastrointestinal tract	535	ATP6V0A1	OMIM:619971
HP:0011024	Abnormality of the gastrointestinal tract	3190	HNRNPK	OMIM:616580
HP:0011024	Abnormality of the gastrointestinal tract	816	CAMK2B	OMIM:617799
HP:0011024	Abnormality of the gastrointestinal tract	7994	KAT6A	ORPHA:457193
HP:0011024	Abnormality of the gastrointestinal tract	7994	KAT6A	OMIM:616268
HP:0011024	Abnormality of the gastrointestinal tract	1183	CLCN4	ORPHA:485350
HP:0011024	Abnormality of the gastrointestinal tract	5832	ALDH18A1	OMIM:601162
HP:0011024	Abnormality of the gastrointestinal tract	5832	ALDH18A1	ORPHA:447757
HP:0011024	Abnormality of the gastrointestinal tract	1277	COL1A1	ORPHA:287
HP:0011024	Abnormality of the gastrointestinal tract	1289	COL5A1	ORPHA:287
HP:0011024	Abnormality of the gastrointestinal tract	1290	COL5A2	ORPHA:287
HP:0011024	Abnormality of the gastrointestinal tract	10484	SEC23A	OMIM:607812
HP:0011024	Abnormality of the gastrointestinal tract	22872	SEC31A	OMIM:618651
HP:0011024	Abnormality of the gastrointestinal tract	4297	KMT2A	ORPHA:319182
HP:0011024	Abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	6469	SHH	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	6491	STIL	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93926
HP:0011024	Abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	50937	CDON	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:93924
HP:0011024	Abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	23007	PLCH1	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:93925
HP:0011024	Abnormality of the gastrointestinal tract	10735	STAG2	OMIM:301043
HP:0011024	Abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:220386
HP:0011024	Abnormality of the gastrointestinal tract	3737	KCNA2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	1759	DNM1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	8120	AP3B2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	523	ATP6V1A	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	10991	SLC38A3	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	10991	SLC38A3	OMIM:619881
HP:0011024	Abnormality of the gastrointestinal tract	51343	FZR1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	22906	TRAK1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2566	GABRG2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	1917	EEF1A2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2561	GABRB2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	8831	SYNGAP1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	7532	YWHAG	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	79876	UBA5	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	79876	UBA5	OMIM:617132
HP:0011024	Abnormality of the gastrointestinal tract	6328	SCN3A	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2558	GABRA5	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	781	CACNA2D1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2906	GRIN2D	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	116150	NUS1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	10659	CELF2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	774	CACNA1B	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	774	CACNA1B	OMIM:618497
HP:0011024	Abnormality of the gastrointestinal tract	1213	CLTC	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	1213	CLTC	OMIM:617854
HP:0011024	Abnormality of the gastrointestinal tract	51741	WWOX	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	23334	SZT2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	51412	ACTL6B	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	348980	HCN1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	6506	SLC1A2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	8867	SYNJ1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2258	FGF13	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	477	ATP1A2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	3745	KCNB1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	284111	SLC13A5	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	25977	NECAP1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	16	AARS1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	6334	SCN8A	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	22866	CNKSR2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	9568	GABBR2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2555	GABRA2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	55152	DALRD3	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	773	CACNA1A	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	26999	CYFIP2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	4915	NTRK2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	25973	PARS2	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	23097	CDK19	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	64801	ARV1	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	64801	ARV1	OMIM:617020
HP:0011024	Abnormality of the gastrointestinal tract	79947	DHDDS	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	2257	FGF12	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	5530	PPP3CA	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	478	ATP1A3	ORPHA:442835
HP:0011024	Abnormality of the gastrointestinal tract	253738	EBF3	OMIM:617330
HP:0011024	Abnormality of the gastrointestinal tract	2261	FGFR3	OMIM:616482
HP:0011024	Abnormality of the gastrointestinal tract	9895	TECPR2	OMIM:615031
HP:0011024	Abnormality of the gastrointestinal tract	8493	PPM1D	OMIM:617450
HP:0011024	Abnormality of the gastrointestinal tract	23126	POGZ	OMIM:616364
HP:0011024	Abnormality of the gastrointestinal tract	23126	POGZ	ORPHA:468678
HP:0011024	Abnormality of the gastrointestinal tract	27125	AFF4	OMIM:616368
HP:0011024	Abnormality of the gastrointestinal tract	27125	AFF4	ORPHA:444077
HP:0011024	Abnormality of the gastrointestinal tract	51692	CPSF3	OMIM:619876
HP:0011024	Abnormality of the gastrointestinal tract	8021	NUP214	OMIM:618426
HP:0011024	Abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:459070
HP:0011024	Abnormality of the gastrointestinal tract	6134	RPL10	OMIM:300998
HP:0011024	Abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:435938
HP:0011024	Abnormality of the gastrointestinal tract	415	ARSL	ORPHA:79345
HP:0011024	Abnormality of the gastrointestinal tract	79796	ALG9	ORPHA:79328
HP:0011024	Abnormality of the gastrointestinal tract	4247	MGAT2	ORPHA:79329
HP:0011024	Abnormality of the gastrointestinal tract	3785	KCNQ2	ORPHA:1949
HP:0011024	Abnormality of the gastrointestinal tract	3786	KCNQ3	ORPHA:1949
HP:0011024	Abnormality of the gastrointestinal tract	11231	SEC63	ORPHA:2924
HP:0011024	Abnormality of the gastrointestinal tract	5589	PRKCSH	ORPHA:2924
HP:0011024	Abnormality of the gastrointestinal tract	4041	LRP5	ORPHA:2924
HP:0011024	Abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:619525
HP:0011024	Abnormality of the gastrointestinal tract	9772	TMEM94	OMIM:618316
HP:0011024	Abnormality of the gastrointestinal tract	51341	ZBTB7A	OMIM:619769
HP:0011024	Abnormality of the gastrointestinal tract	9338	TCEAL1	OMIM:301094
HP:0011024	Abnormality of the gastrointestinal tract	6925	TCF4	OMIM:610954
HP:0011024	Abnormality of the gastrointestinal tract	6925	TCF4	ORPHA:2896
HP:0011024	Abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:1713
HP:0011024	Abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:819
HP:0011024	Abnormality of the gastrointestinal tract	23314	SATB2	ORPHA:576283
HP:0011024	Abnormality of the gastrointestinal tract	23162	MAPK8IP3	OMIM:618443
HP:0011024	Abnormality of the gastrointestinal tract	54941	RNF125	OMIM:616260
HP:0011024	Abnormality of the gastrointestinal tract	197258	FCSK	OMIM:618324
HP:0011024	Abnormality of the gastrointestinal tract	79989	IFT56	OMIM:619534
HP:0011024	Abnormality of the gastrointestinal tract	85365	ALG2	OMIM:607906
HP:0011024	Abnormality of the gastrointestinal tract	259232	NALCN	OMIM:616266
HP:0011024	Abnormality of the gastrointestinal tract	259232	NALCN	OMIM:615419
HP:0011024	Abnormality of the gastrointestinal tract	23219	FBXO28	OMIM:619777
HP:0011024	Abnormality of the gastrointestinal tract	51322	WAC	ORPHA:466950
HP:0011024	Abnormality of the gastrointestinal tract	79087	ALG12	ORPHA:79324
HP:0011024	Abnormality of the gastrointestinal tract	2200	FBN1	OMIM:184900
HP:0011024	Abnormality of the gastrointestinal tract	2200	FBN1	ORPHA:2462
HP:0011024	Abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:611816
HP:0011024	Abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:135500
HP:0011024	Abnormality of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0011024	Abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:618332
HP:0011024	Abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353281
HP:0011024	Abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:180849
HP:0011024	Abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353277
HP:0011024	Abnormality of the gastrointestinal tract	8621	CDK13	OMIM:617360
HP:0011024	Abnormality of the gastrointestinal tract	58497	PRUNE1	ORPHA:544469
HP:0011024	Abnormality of the gastrointestinal tract	1642	DDB1	OMIM:619426
HP:0011024	Abnormality of the gastrointestinal tract	6857	SYT1	OMIM:618218
HP:0011024	Abnormality of the gastrointestinal tract	6857	SYT1	ORPHA:522077
HP:0011024	Abnormality of the gastrointestinal tract	389827	MYMK	OMIM:254940
HP:0011024	Abnormality of the gastrointestinal tract	2902	GRIN1	ORPHA:208447
HP:0011024	Abnormality of the gastrointestinal tract	2902	GRIN1	OMIM:619814
HP:0011024	Abnormality of the gastrointestinal tract	291	SLC25A4	ORPHA:254892
HP:0011024	Abnormality of the gastrointestinal tract	56652	TWNK	ORPHA:254892
HP:0011024	Abnormality of the gastrointestinal tract	11232	POLG2	ORPHA:254892
HP:0011024	Abnormality of the gastrointestinal tract	11232	POLG2	OMIM:610131
HP:0011024	Abnormality of the gastrointestinal tract	6477	SIAH1	OMIM:619314
HP:0011024	Abnormality of the gastrointestinal tract	4000	LMNA	OMIM:619793
HP:0011024	Abnormality of the gastrointestinal tract	79932	KIAA0319L	ORPHA:220402
HP:0011024	Abnormality of the gastrointestinal tract	29998	BICRA	OMIM:619325
HP:0011024	Abnormality of the gastrointestinal tract	2033	EP300	ORPHA:353284
HP:0011024	Abnormality of the gastrointestinal tract	2033	EP300	OMIM:180849
HP:0011024	Abnormality of the gastrointestinal tract	3930	LBR	ORPHA:779
HP:0011024	Abnormality of the gastrointestinal tract	443	ASPA	ORPHA:314911
HP:0011024	Abnormality of the gastrointestinal tract	55777	MBD5	OMIM:156200
HP:0011024	Abnormality of the gastrointestinal tract	112939	NACC1	OMIM:617393
HP:0011024	Abnormality of the gastrointestinal tract	4998	ORC1	OMIM:224690
HP:0011024	Abnormality of the gastrointestinal tract	54496	PRMT7	OMIM:617157
HP:0011024	Abnormality of the gastrointestinal tract	54551	MAGEL2	ORPHA:398069
HP:0011024	Abnormality of the gastrointestinal tract	54551	MAGEL2	OMIM:615547
HP:0011024	Abnormality of the gastrointestinal tract	201163	FLCN	OMIM:610883
HP:0011024	Abnormality of the gastrointestinal tract	51079	NDUFA13	OMIM:618249
HP:0011024	Abnormality of the gastrointestinal tract	9719	ADAMTSL2	ORPHA:1901
HP:0011024	Abnormality of the gastrointestinal tract	9509	ADAMTS2	ORPHA:1901
HP:0011024	Abnormality of the gastrointestinal tract	2778	GNAS	ORPHA:562
HP:0011024	Abnormality of the gastrointestinal tract	22827	PUF60	ORPHA:508488
HP:0011024	Abnormality of the gastrointestinal tract	7703	PCGF2	OMIM:618371
HP:0011024	Abnormality of the gastrointestinal tract	9496	TBX4	ORPHA:261279
HP:0011024	Abnormality of the gastrointestinal tract	2743	GLRB	ORPHA:3197
HP:0011024	Abnormality of the gastrointestinal tract	2743	GLRB	OMIM:614619
HP:0011024	Abnormality of the gastrointestinal tract	2741	GLRA1	ORPHA:3197
HP:0011024	Abnormality of the gastrointestinal tract	10243	GPHN	ORPHA:3197
HP:0011024	Abnormality of the gastrointestinal tract	84896	ATAD1	ORPHA:3197
HP:0011024	Abnormality of the gastrointestinal tract	9152	SLC6A5	ORPHA:3197
HP:0011024	Abnormality of the gastrointestinal tract	9152	SLC6A5	OMIM:614618
HP:0011024	Abnormality of the gastrointestinal tract	1760	DMPK	ORPHA:589821
HP:0011024	Abnormality of the gastrointestinal tract	372	ARCN1	OMIM:617164
HP:0011024	Abnormality of the gastrointestinal tract	8802	SUCLG1	ORPHA:17
HP:0011024	Abnormality of the gastrointestinal tract	1822	ATN1	OMIM:618494
HP:0011024	Abnormality of the gastrointestinal tract	3188	HNRNPH2	OMIM:300986
HP:0011024	Abnormality of the gastrointestinal tract	5000	ORC4	OMIM:613800
HP:0011024	Abnormality of the gastrointestinal tract	6304	SATB1	OMIM:619229
HP:0011024	Abnormality of the gastrointestinal tract	23594	ORC6	OMIM:613803
HP:0011024	Abnormality of the gastrointestinal tract	990	CDC6	OMIM:613805
HP:0011024	Abnormality of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0011024	Abnormality of the gastrointestinal tract	37	ACADVL	OMIM:201475
HP:0011024	Abnormality of the gastrointestinal tract	2290	FOXG1	ORPHA:261144
HP:0011024	Abnormality of the gastrointestinal tract	2290	FOXG1	OMIM:613454
HP:0011024	Abnormality of the gastrointestinal tract	54809	SAMD9	OMIM:617053
HP:0011024	Abnormality of the gastrointestinal tract	57003	CCDC47	OMIM:618268
HP:0011024	Abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617173
HP:0011024	Abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617182
HP:0011024	Abnormality of the gastrointestinal tract	10681	GNB5	ORPHA:542306
HP:0011024	Abnormality of the gastrointestinal tract	10526	IPO8	OMIM:619472
HP:0011024	Abnormality of the gastrointestinal tract	64840	PORCN	ORPHA:2092
HP:0011024	Abnormality of the gastrointestinal tract	10847	SRCAP	OMIM:619595
HP:0011024	Abnormality of the gastrointestinal tract	10847	SRCAP	ORPHA:2044
HP:0011024	Abnormality of the gastrointestinal tract	51604	PIGT	ORPHA:369837
HP:0011024	Abnormality of the gastrointestinal tract	246329	STAC3	ORPHA:168572
HP:0011024	Abnormality of the gastrointestinal tract	526	ATP6V1B2	ORPHA:79500
HP:0011024	Abnormality of the gastrointestinal tract	57465	TBC1D24	ORPHA:79500
HP:0011024	Abnormality of the gastrointestinal tract	11198	SUPT16H	OMIM:619480
HP:0011024	Abnormality of the gastrointestinal tract	2887	GRB10	ORPHA:96182
HP:0011024	Abnormality of the gastrointestinal tract	283446	MYO1H	OMIM:619482
HP:0011024	Abnormality of the gastrointestinal tract	6872	TAF1	OMIM:300966
HP:0011024	Abnormality of the gastrointestinal tract	4841	NONO	OMIM:300967
HP:0011024	Abnormality of the gastrointestinal tract	4841	NONO	ORPHA:466791
HP:0011024	Abnormality of the gastrointestinal tract	5058	PAK1	OMIM:618158
HP:0011024	Abnormality of the gastrointestinal tract	57038	RARS2	OMIM:611523
HP:0011024	Abnormality of the gastrointestinal tract	8911	CACNA1I	OMIM:620114
HP:0011024	Abnormality of the gastrointestinal tract	10551	AGR2	OMIM:620233
HP:0011024	Abnormality of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0011024	Abnormality of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0011024	Abnormality of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0011024	Abnormality of the gastrointestinal tract	1030	CDKN2B	ORPHA:652
HP:0011024	Abnormality of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0011024	Abnormality of the gastrointestinal tract	80267	EDEM3	OMIM:619493
HP:0011024	Abnormality of the gastrointestinal tract	1650	DDOST	ORPHA:300536
HP:0011024	Abnormality of the gastrointestinal tract	1650	DDOST	OMIM:614507
HP:0011024	Abnormality of the gastrointestinal tract	6748	SSR4	ORPHA:370927
HP:0011024	Abnormality of the gastrointestinal tract	4508	MT-ATP6	ORPHA:225154
HP:0011024	Abnormality of the gastrointestinal tract	23636	NUP62	ORPHA:225154
HP:0011024	Abnormality of the gastrointestinal tract	103	ADAR	ORPHA:225154
HP:0011024	Abnormality of the gastrointestinal tract	10479	SLC9A6	ORPHA:85278
HP:0011024	Abnormality of the gastrointestinal tract	1984	EIF5A	OMIM:619376
HP:0011024	Abnormality of the gastrointestinal tract	79651	RHBDF2	ORPHA:2198
HP:0011024	Abnormality of the gastrointestinal tract	2581	GALC	ORPHA:206436
HP:0011024	Abnormality of the gastrointestinal tract	5660	PSAP	ORPHA:206436
HP:0011024	Abnormality of the gastrointestinal tract	10079	ATP9A	OMIM:620242
HP:0011024	Abnormality of the gastrointestinal tract	2629	GBA1	OMIM:230900
HP:0011024	Abnormality of the gastrointestinal tract	27161	AGO2	OMIM:619149
HP:0011024	Abnormality of the gastrointestinal tract	55294	FBXW7	OMIM:620012
HP:0011024	Abnormality of the gastrointestinal tract	9325	TRIP4	ORPHA:486815
HP:0011024	Abnormality of the gastrointestinal tract	8506	CNTNAP1	OMIM:618186
HP:0011024	Abnormality of the gastrointestinal tract	55503	TRPV6	OMIM:618188
HP:0011024	Abnormality of the gastrointestinal tract	7355	SLC35A2	ORPHA:356961
HP:0011024	Abnormality of the gastrointestinal tract	7355	SLC35A2	OMIM:300896
HP:0011024	Abnormality of the gastrointestinal tract	673	BRAF	OMIM:115150
HP:0011024	Abnormality of the gastrointestinal tract	10274	STAG1	ORPHA:502434
HP:0011024	Abnormality of the gastrointestinal tract	10274	STAG1	OMIM:617635
HP:0011024	Abnormality of the gastrointestinal tract	64324	NSD1	ORPHA:821
HP:0011024	Abnormality of the gastrointestinal tract	64324	NSD1	OMIM:117550
HP:0011024	Abnormality of the gastrointestinal tract	29072	SETD2	ORPHA:821
HP:0011024	Abnormality of the gastrointestinal tract	10297	APC2	ORPHA:821
HP:0011024	Abnormality of the gastrointestinal tract	5447	POR	ORPHA:95699
HP:0011024	Abnormality of the gastrointestinal tract	6531	SLC6A3	ORPHA:238455
HP:0011024	Abnormality of the gastrointestinal tract	6531	SLC6A3	OMIM:613135
HP:0011024	Abnormality of the gastrointestinal tract	80232	WDR26	ORPHA:513456
HP:0011024	Abnormality of the gastrointestinal tract	51112	TRAPPC12	ORPHA:500144
HP:0011024	Abnormality of the gastrointestinal tract	51506	UFC1	OMIM:618076
HP:0011024	Abnormality of the gastrointestinal tract	2314	FLII	ORPHA:819
HP:0011024	Abnormality of the gastrointestinal tract	23096	IQSEC2	ORPHA:819
HP:0011024	Abnormality of the gastrointestinal tract	10522	DEAF1	ORPHA:819
HP:0011024	Abnormality of the gastrointestinal tract	9915	ARNT2	OMIM:615926
HP:0011024	Abnormality of the gastrointestinal tract	10978	CLP1	OMIM:615803
HP:0011024	Abnormality of the gastrointestinal tract	5979	RET	ORPHA:99803
HP:0011024	Abnormality of the gastrointestinal tract	429	ASCL1	ORPHA:99803
HP:0011024	Abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:99803
HP:0011024	Abnormality of the gastrointestinal tract	3119	HLA-DQB1	ORPHA:930
HP:0011024	Abnormality of the gastrointestinal tract	9244	CRLF1	ORPHA:930
HP:0011024	Abnormality of the gastrointestinal tract	3117	HLA-DQA1	ORPHA:930
HP:0011024	Abnormality of the gastrointestinal tract	4842	NOS1	ORPHA:930
HP:0011024	Abnormality of the gastrointestinal tract	6595	SMARCA2	OMIM:619293
HP:0011024	Abnormality of the gastrointestinal tract	3899	AFF3	OMIM:619297
HP:0011024	Abnormality of the gastrointestinal tract	1136	CHRNA3	OMIM:191800
HP:0011024	Abnormality of the gastrointestinal tract	5119	CHMP1A	OMIM:614961
HP:0011024	Abnormality of the gastrointestinal tract	6440	SFTPC	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	729238	SFTPA2	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	79991	STN1	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	653509	SFTPA1	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	21	ABCA3	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	1832	DSP	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	727897	MUC5B	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	10144	FAM13A	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	23250	ATP11A	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	91039	DPP9	ORPHA:2032
HP:0011024	Abnormality of the gastrointestinal tract	546	ATRX	ORPHA:847
HP:0011024	Abnormality of the gastrointestinal tract	546	ATRX	OMIM:309580
HP:0011024	Abnormality of the gastrointestinal tract	546	ATRX	OMIM:301040
HP:0011024	Abnormality of the gastrointestinal tract	8546	AP3B1	OMIM:608233
HP:0011024	Abnormality of the gastrointestinal tract	4212	MEIS2	OMIM:600987
HP:0011024	Abnormality of the gastrointestinal tract	7156	TOP3A	OMIM:618097
HP:0011024	Abnormality of the gastrointestinal tract	132158	GLYCTK	OMIM:220120
HP:0011024	Abnormality of the gastrointestinal tract	53834	FGFRL1	OMIM:194190
HP:0011024	Abnormality of the gastrointestinal tract	1487	CTBP1	OMIM:194190
HP:0011024	Abnormality of the gastrointestinal tract	3954	LETM1	OMIM:194190
HP:0011024	Abnormality of the gastrointestinal tract	7468	NSD2	OMIM:194190
HP:0011024	Abnormality of the gastrointestinal tract	10815	CPLX1	OMIM:194190
HP:0011024	Abnormality of the gastrointestinal tract	5826	ABCD4	OMIM:614857
HP:0011024	Abnormality of the gastrointestinal tract	10558	SPTLC1	ORPHA:36386
HP:0011024	Abnormality of the gastrointestinal tract	25923	ATL3	ORPHA:36386
HP:0011024	Abnormality of the gastrointestinal tract	9517	SPTLC2	ORPHA:36386
HP:0011024	Abnormality of the gastrointestinal tract	51062	ATL1	ORPHA:36386
HP:0011024	Abnormality of the gastrointestinal tract	7840	ALMS1	ORPHA:64
HP:0011024	Abnormality of the gastrointestinal tract	4204	MECP2	OMIM:300673
HP:0011024	Abnormality of the gastrointestinal tract	4204	MECP2	OMIM:312750
HP:0011024	Abnormality of the gastrointestinal tract	4204	MECP2	OMIM:300260
HP:0011024	Abnormality of the gastrointestinal tract	6792	CDKL5	OMIM:300672
HP:0011024	Abnormality of the gastrointestinal tract	56006	SMG9	OMIM:616920
HP:0011024	Abnormality of the gastrointestinal tract	2332	FMR1	ORPHA:908
HP:0011024	Abnormality of the gastrointestinal tract	2332	FMR1	ORPHA:449291
HP:0011024	Abnormality of the gastrointestinal tract	10056	FARSB	OMIM:613658
HP:0011024	Abnormality of the gastrointestinal tract	9289	ADGRG1	ORPHA:98889
HP:0011024	Abnormality of the gastrointestinal tract	5297	PI4KA	ORPHA:98889
HP:0011024	Abnormality of the gastrointestinal tract	27286	SRPX2	ORPHA:98889
HP:0011024	Abnormality of the gastrointestinal tract	23137	SMC5	OMIM:620185
HP:0011024	Abnormality of the gastrointestinal tract	51611	DPH5	OMIM:620070
HP:0011024	Abnormality of the gastrointestinal tract	6558	SLC12A2	OMIM:619080
HP:0011024	Abnormality of the gastrointestinal tract	23261	CAMTA1	OMIM:614756
HP:0011024	Abnormality of the gastrointestinal tract	10472	ZBTB18	OMIM:612337
HP:0011024	Abnormality of the gastrointestinal tract	3187	HNRNPH1	OMIM:620083
HP:0011024	Abnormality of the gastrointestinal tract	2535	FZD2	OMIM:164745
HP:0011024	Abnormality of the gastrointestinal tract	50628	GEMIN4	OMIM:617913
HP:0011024	Abnormality of the gastrointestinal tract	6509	SLC1A4	ORPHA:447997
HP:0011024	Abnormality of the gastrointestinal tract	55023	PHIP	ORPHA:589905
HP:0011024	Abnormality of the gastrointestinal tract	54463	RETREG1	OMIM:201300
HP:0011024	Abnormality of the gastrointestinal tract	65125	WNK1	OMIM:201300
HP:0011024	Abnormality of the gastrointestinal tract	6335	SCN9A	OMIM:201300
HP:0011024	Abnormality of the gastrointestinal tract	547	KIF1A	OMIM:201300
HP:0011024	Abnormality of the gastrointestinal tract	667	DST	OMIM:614653
HP:0011024	Abnormality of the gastrointestinal tract	55690	PACS1	ORPHA:329224
HP:0011024	Abnormality of the gastrointestinal tract	51053	GMNN	OMIM:616835
HP:0011024	Abnormality of the gastrointestinal tract	196528	ARID2	OMIM:617808
HP:0011024	Abnormality of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0011024	Abnormality of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0011024	Abnormality of the gastrointestinal tract	91949	COG7	OMIM:608779
HP:0011024	Abnormality of the gastrointestinal tract	9780	PIEZO1	OMIM:616843
HP:0011024	Abnormality of the gastrointestinal tract	100151683	RNU4ATAC	OMIM:210710
HP:0011024	Abnormality of the gastrointestinal tract	1305	COL13A1	OMIM:616720
HP:0011024	Abnormality of the gastrointestinal tract	1305	COL13A1	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	1280	COL2A1	ORPHA:93316
HP:0011024	Abnormality of the gastrointestinal tract	85358	SHANK3	OMIM:606232
HP:0011024	Abnormality of the gastrointestinal tract	85358	SHANK3	ORPHA:48652
HP:0011024	Abnormality of the gastrointestinal tract	113179	ADAT3	ORPHA:363528
HP:0011024	Abnormality of the gastrointestinal tract	11151	CORO1A	OMIM:615401
HP:0011024	Abnormality of the gastrointestinal tract	54931	TRMT10C	OMIM:616974
HP:0011024	Abnormality of the gastrointestinal tract	10157	AASS	ORPHA:2203
HP:0011024	Abnormality of the gastrointestinal tract	3097	HIVEP2	OMIM:616977
HP:0011024	Abnormality of the gastrointestinal tract	1644	DDC	OMIM:608643
HP:0011024	Abnormality of the gastrointestinal tract	10560	SLC19A2	OMIM:249270
HP:0011024	Abnormality of the gastrointestinal tract	6709	SPTAN1	OMIM:613477
HP:0011024	Abnormality of the gastrointestinal tract	9378	NRXN1	OMIM:614325
HP:0011024	Abnormality of the gastrointestinal tract	5160	PDHA1	ORPHA:79243
HP:0011024	Abnormality of the gastrointestinal tract	84693	MCEE	OMIM:251120
HP:0011024	Abnormality of the gastrointestinal tract	10943	MSL3	OMIM:301032
HP:0011024	Abnormality of the gastrointestinal tract	5723	PSPH	ORPHA:79350
HP:0011024	Abnormality of the gastrointestinal tract	26227	PHGDH	ORPHA:79351
HP:0011024	Abnormality of the gastrointestinal tract	59336	PRDM13	OMIM:619909
HP:0011024	Abnormality of the gastrointestinal tract	7874	USP7	ORPHA:500055
HP:0011024	Abnormality of the gastrointestinal tract	10664	CTCF	ORPHA:363611
HP:0011024	Abnormality of the gastrointestinal tract	29957	SLC25A24	OMIM:612289
HP:0011024	Abnormality of the gastrointestinal tract	80152	CENPT	OMIM:618702
HP:0011024	Abnormality of the gastrointestinal tract	3575	IL7R	OMIM:608971
HP:0011024	Abnormality of the gastrointestinal tract	5293	PIK3CD	ORPHA:221139
HP:0011024	Abnormality of the gastrointestinal tract	90417	KNSTRN	ORPHA:221139
HP:0011024	Abnormality of the gastrointestinal tract	8405	SPOP	OMIM:618829
HP:0011024	Abnormality of the gastrointestinal tract	10128	LRPPRC	ORPHA:70472
HP:0011024	Abnormality of the gastrointestinal tract	83737	ITCH	OMIM:613385
HP:0011024	Abnormality of the gastrointestinal tract	283989	TSEN54	ORPHA:2524
HP:0011024	Abnormality of the gastrointestinal tract	116461	TSEN15	ORPHA:2524
HP:0011024	Abnormality of the gastrointestinal tract	79042	TSEN34	ORPHA:2524
HP:0011024	Abnormality of the gastrointestinal tract	80746	TSEN2	ORPHA:2524
HP:0011024	Abnormality of the gastrointestinal tract	51091	SEPSECS	ORPHA:2524
HP:0011024	Abnormality of the gastrointestinal tract	57688	ZSWIM6	OMIM:617865
HP:0011024	Abnormality of the gastrointestinal tract	2890	GRIA1	OMIM:619927
HP:0011024	Abnormality of the gastrointestinal tract	60482	SLC5A7	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	4649	MYO9A	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	1103	CHAT	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	6576	SLC25A1	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	6843	VAMP1	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	375790	AGRN	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	6572	SLC18A3	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	6616	SNAP25	ORPHA:98914
HP:0011024	Abnormality of the gastrointestinal tract	6651	SON	ORPHA:500150
HP:0011024	Abnormality of the gastrointestinal tract	9757	KMT2B	OMIM:619934
HP:0011024	Abnormality of the gastrointestinal tract	5430	POLR2A	OMIM:618603
HP:0011024	Abnormality of the gastrointestinal tract	57731	SPTBN4	OMIM:617519
HP:0011024	Abnormality of the gastrointestinal tract	29928	TIMM22	OMIM:618851
HP:0011024	Abnormality of the gastrointestinal tract	8803	SUCLA2	OMIM:612073
HP:0011024	Abnormality of the gastrointestinal tract	25871	NEPRO	OMIM:618853
HP:0011024	Abnormality of the gastrointestinal tract	23476	BRD4	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	9126	SMC3	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	8243	SMC1A	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	25836	NIPBL	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	25836	NIPBL	OMIM:122470
HP:0011024	Abnormality of the gastrointestinal tract	55869	HDAC8	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	5885	RAD21	ORPHA:199
HP:0011024	Abnormality of the gastrointestinal tract	375	ARF1	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	4131	MAP1B	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	23327	NEDD4L	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	160418	TMTC3	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	10564	ARFGEF2	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	55780	ERMARD	ORPHA:98892
HP:0011024	Abnormality of the gastrointestinal tract	1859	DYRK1A	ORPHA:268261
HP:0011024	Abnormality of the gastrointestinal tract	91754	NEK9	OMIM:614262
HP:0011024	Abnormality of the gastrointestinal tract	8425	LTBP4	OMIM:613177
HP:0011024	Abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:617137
HP:0011024	Abnormality of the gastrointestinal tract	4744	NEFH	OMIM:616924
HP:0011024	Abnormality of the gastrointestinal tract	9759	HDAC4	ORPHA:1001
HP:0011024	Abnormality of the gastrointestinal tract	5590	PRKCZ	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	2563	GABRD	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	23013	SPEN	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	8510	MMP23B	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	7798	LUZP1	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	6497	SKI	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	10630	PDPN	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	3339	HSPG2	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	10277	UBE4B	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	8514	KCNAB2	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	473	RERE	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	63976	PRDM16	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	54897	CASZ1	ORPHA:1606
HP:0011024	Abnormality of the gastrointestinal tract	81031	SLC2A10	ORPHA:3342
HP:0011024	Abnormality of the gastrointestinal tract	4534	MTM1	OMIM:310400
HP:0011024	Abnormality of the gastrointestinal tract	6928	HNF1B	ORPHA:93111
HP:0011024	Abnormality of the gastrointestinal tract	9839	ZEB2	OMIM:235730
HP:0011024	Abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261537
HP:0011024	Abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261552
HP:0011024	Abnormality of the gastrointestinal tract	274	BIN1	ORPHA:169189
HP:0011024	Abnormality of the gastrointestinal tract	64419	MTMR14	ORPHA:169189
HP:0011024	Abnormality of the gastrointestinal tract	4618	MYF6	ORPHA:169189
HP:0011024	Abnormality of the gastrointestinal tract	1785	DNM2	ORPHA:169189
HP:0011024	Abnormality of the gastrointestinal tract	6261	RYR1	ORPHA:169189
HP:0011024	Abnormality of the gastrointestinal tract	80781	COL18A1	OMIM:267750
HP:0011024	Abnormality of the gastrointestinal tract	80781	COL18A1	ORPHA:1571
HP:0011024	Abnormality of the gastrointestinal tract	388015	RTL1	ORPHA:96184
HP:0011024	Abnormality of the gastrointestinal tract	8788	DLK1	ORPHA:96184
HP:0011024	Abnormality of the gastrointestinal tract	55384	MEG3	ORPHA:96184
HP:0011024	Abnormality of the gastrointestinal tract	5009	OTC	ORPHA:664
HP:0011024	Abnormality of the gastrointestinal tract	374879	ZNF699	OMIM:619488
HP:0011024	Abnormality of the gastrointestinal tract	613	BCR	ORPHA:261330
HP:0011024	Abnormality of the gastrointestinal tract	1399	CRKL	ORPHA:261330
HP:0011024	Abnormality of the gastrointestinal tract	5594	MAPK1	ORPHA:261330
HP:0011024	Abnormality of the gastrointestinal tract	1723	DHODH	OMIM:263750
HP:0011024	Abnormality of the gastrointestinal tract	5831	PYCR1	OMIM:614438
HP:0011024	Abnormality of the gastrointestinal tract	1717	DHCR7	ORPHA:818
HP:0011024	Abnormality of the gastrointestinal tract	1717	DHCR7	OMIM:270400
HP:0011024	Abnormality of the gastrointestinal tract	4868	NPHS1	OMIM:256300
HP:0011024	Abnormality of the gastrointestinal tract	63895	PIEZO2	OMIM:248700
HP:0011024	Abnormality of the gastrointestinal tract	63895	PIEZO2	ORPHA:2461
HP:0011024	Abnormality of the gastrointestinal tract	4784	NFIX	OMIM:602535
HP:0011024	Abnormality of the gastrointestinal tract	5528	PPP2R5D	ORPHA:457279
HP:0011024	Abnormality of the gastrointestinal tract	5528	PPP2R5D	OMIM:616355
HP:0011024	Abnormality of the gastrointestinal tract	4052	LTBP1	ORPHA:90349
HP:0011024	Abnormality of the gastrointestinal tract	30008	EFEMP2	ORPHA:90349
HP:0011024	Abnormality of the gastrointestinal tract	10516	FBLN5	ORPHA:90349
HP:0011024	Abnormality of the gastrointestinal tract	284058	KANSL1	OMIM:610443
HP:0011024	Abnormality of the gastrointestinal tract	9896	FIG4	OMIM:216340
HP:0011024	Abnormality of the gastrointestinal tract	9896	FIG4	ORPHA:3472
HP:0011024	Abnormality of the gastrointestinal tract	7020	TFAP2A	OMIM:113620
HP:0011024	Abnormality of the gastrointestinal tract	3914	LAMB3	OMIM:226700
HP:0011024	Abnormality of the gastrointestinal tract	3909	LAMA3	OMIM:226700
HP:0011024	Abnormality of the gastrointestinal tract	3918	LAMC2	OMIM:226700
HP:0011024	Abnormality of the gastrointestinal tract	55697	VAC14	ORPHA:3472
HP:0011024	Abnormality of the gastrointestinal tract	404672	GTF2H5	OMIM:616395
HP:0011024	Abnormality of the gastrointestinal tract	25970	SH2B1	ORPHA:261197
HP:0011024	Abnormality of the gastrointestinal tract	127833	SYT2	OMIM:619461
HP:0011024	Abnormality of the gastrointestinal tract	529	ATP6V1E1	OMIM:617402
HP:0011024	Abnormality of the gastrointestinal tract	5062	PAK2	OMIM:618458
HP:0011024	Abnormality of the gastrointestinal tract	5062	PAK2	ORPHA:1571
HP:0011024	Abnormality of the gastrointestinal tract	284119	CAVIN1	OMIM:613327
HP:0011024	Abnormality of the gastrointestinal tract	3265	HRAS	OMIM:218040
HP:0011024	Abnormality of the gastrointestinal tract	871	SERPINH1	OMIM:613848
HP:0011024	Abnormality of the gastrointestinal tract	2313	FLI1	ORPHA:2308
HP:0011024	Abnormality of the gastrointestinal tract	2737	GLI3	ORPHA:672
HP:0011024	Abnormality of the gastrointestinal tract	2737	GLI3	OMIM:146510
HP:0011024	Abnormality of the gastrointestinal tract	9361	LONP1	OMIM:600373
HP:0011024	Abnormality of the gastrointestinal tract	2294	FOXF1	OMIM:265380
HP:0011024	Abnormality of the gastrointestinal tract	2294	FOXF1	ORPHA:210122
HP:0011024	Abnormality of the gastrointestinal tract	117581	TWIST2	OMIM:227260
HP:0011024	Abnormality of the gastrointestinal tract	117581	TWIST2	ORPHA:1807
HP:0011024	Abnormality of the gastrointestinal tract	8195	MKKS	OMIM:236700
HP:0011024	Abnormality of the gastrointestinal tract	8195	MKKS	ORPHA:2473
HP:0011024	Abnormality of the gastrointestinal tract	145173	B3GLCT	ORPHA:709
HP:0011024	Abnormality of the gastrointestinal tract	6650	CAPN15	OMIM:619318
HP:0011024	Abnormality of the gastrointestinal tract	1131	CHRM3	ORPHA:2970
HP:0011024	Abnormality of the gastrointestinal tract	1131	CHRM3	OMIM:100100
HP:0011024	Abnormality of the gastrointestinal tract	7473	WNT3	ORPHA:3301
HP:0011024	Abnormality of the gastrointestinal tract	7473	WNT3	OMIM:273395
HP:0011024	Abnormality of the gastrointestinal tract	340419	RSPO2	ORPHA:3301
HP:0011024	Abnormality of the gastrointestinal tract	81839	VANGL1	ORPHA:3027
HP:0011024	Abnormality of the gastrointestinal tract	80199	FUZ	ORPHA:3027
HP:0011024	Abnormality of the gastrointestinal tract	10084	PQBP1	ORPHA:93950
HP:0011024	Abnormality of the gastrointestinal tract	10084	PQBP1	OMIM:309500
HP:0011024	Abnormality of the gastrointestinal tract	197131	UBR1	OMIM:243800
HP:0011024	Abnormality of the gastrointestinal tract	197131	UBR1	ORPHA:2315
HP:0011024	Abnormality of the gastrointestinal tract	267010	RNU12	OMIM:603116
HP:0011024	Abnormality of the gastrointestinal tract	55112	DYNC2I1	ORPHA:93271
HP:0011024	Abnormality of the gastrointestinal tract	57560	IFT80	ORPHA:93271
HP:0011024	Abnormality of the gastrointestinal tract	57539	WDR35	ORPHA:93271
HP:0011024	Abnormality of the gastrointestinal tract	79659	DYNC2H1	ORPHA:93271
HP:0011024	Abnormality of the gastrointestinal tract	79659	DYNC2H1	OMIM:613091
HP:0011024	Abnormality of the gastrointestinal tract	89891	DYNC2I2	ORPHA:93271
HP:0011024	Abnormality of the gastrointestinal tract	4281	MID1	OMIM:300000
HP:0011024	Abnormality of the gastrointestinal tract	4281	MID1	ORPHA:2745
HP:0011024	Abnormality of the gastrointestinal tract	374654	KIF7	OMIM:200990
HP:0011024	Abnormality of the gastrointestinal tract	2623	GATA1	OMIM:190685
HP:0011024	Abnormality of the gastrointestinal tract	3313	HSPA9	OMIM:616854
HP:0011024	Abnormality of the gastrointestinal tract	2137	EXTL3	OMIM:617425
HP:0011024	Abnormality of the gastrointestinal tract	999	CDH1	OMIM:119580
HP:0011024	Abnormality of the gastrointestinal tract	999	CDH1	ORPHA:1997
HP:0011024	Abnormality of the gastrointestinal tract	29954	POMT2	OMIM:236670
HP:0011024	Abnormality of the gastrointestinal tract	9215	LARGE1	OMIM:236670
HP:0011024	Abnormality of the gastrointestinal tract	79147	FKRP	OMIM:236670
HP:0011024	Abnormality of the gastrointestinal tract	10585	POMT1	OMIM:236670
HP:0011024	Abnormality of the gastrointestinal tract	2218	FKTN	OMIM:236670
HP:0011024	Abnormality of the gastrointestinal tract	2187	FANCB	ORPHA:3412
HP:0011024	Abnormality of the gastrointestinal tract	2187	FANCB	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2187	FANCB	OMIM:314390
HP:0011024	Abnormality of the gastrointestinal tract	1500	CTNND1	ORPHA:1997
HP:0011024	Abnormality of the gastrointestinal tract	7547	ZIC3	OMIM:306955
HP:0011024	Abnormality of the gastrointestinal tract	7547	ZIC3	OMIM:314390
HP:0011024	Abnormality of the gastrointestinal tract	4072	EPCAM	ORPHA:92050
HP:0011024	Abnormality of the gastrointestinal tract	105371045	PERCC1	ORPHA:92050
HP:0011024	Abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:93260
HP:0011024	Abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:93259
HP:0011024	Abnormality of the gastrointestinal tract	9401	RECQL4	ORPHA:1225
HP:0011024	Abnormality of the gastrointestinal tract	9401	RECQL4	OMIM:218600
HP:0011024	Abnormality of the gastrointestinal tract	672	BRCA1	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	10459	MAD2L2	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	7516	XRCC2	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	29089	UBE2T	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	675	BRCA2	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	675	BRCA2	OMIM:605724
HP:0011024	Abnormality of the gastrointestinal tract	55120	FANCL	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	55120	FANCL	OMIM:614083
HP:0011024	Abnormality of the gastrointestinal tract	2177	FANCD2	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2175	FANCA	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2176	FANCC	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2178	FANCE	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2188	FANCF	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2189	FANCG	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	5888	RAD51	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	5888	RAD51	OMIM:617244
HP:0011024	Abnormality of the gastrointestinal tract	55159	RFWD3	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	83990	BRIP1	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	57697	FANCM	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	79728	PALB2	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	84464	SLX4	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	2072	ERCC4	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	55215	FANCI	ORPHA:84
HP:0011024	Abnormality of the gastrointestinal tract	1312	COMT	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	221037	JMJD1C	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	6239	RREB1	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	6899	TBX1	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	7290	HIRA	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	9632	SEC24C	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	7353	UFD1	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	421	ARVCF	ORPHA:567
HP:0011024	Abnormality of the gastrointestinal tract	25942	SIN3A	ORPHA:94065
HP:0011024	Abnormality of the gastrointestinal tract	25	ABL1	OMIM:617602
HP:0011024	Abnormality of the gastrointestinal tract	23065	EMC1	OMIM:616875
HP:0011024	Abnormality of the gastrointestinal tract	23065	EMC1	ORPHA:480898
HP:0011024	Abnormality of the gastrointestinal tract	55012	PPP2R3C	OMIM:618419
HP:0011024	Abnormality of the gastrointestinal tract	23495	TNFRSF13B	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	4790	NFKB1	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	4791	NFKB2	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	115650	TNFRSF13C	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	1380	CR2	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	8742	TNFSF12	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	5580	PRKCD	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	930	CD19	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	29851	ICOS	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	931	MS4A1	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	975	CD81	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	359948	IRF2BP2	ORPHA:1572
HP:0011024	Abnormality of the gastrointestinal tract	10046	MAMLD1	ORPHA:95706
HP:0011024	Abnormality of the gastrointestinal tract	367	AR	ORPHA:95706
HP:0011024	Abnormality of the gastrointestinal tract	6862	TBXT	OMIM:615709
HP:0011024	Abnormality of the gastrointestinal tract	4613	MYCN	ORPHA:391641
HP:0011024	Abnormality of the gastrointestinal tract	8260	NAA10	OMIM:309800
HP:0011024	Abnormality of the gastrointestinal tract	54880	BCOR	OMIM:309800
HP:0011024	Abnormality of the gastrointestinal tract	1349	COX7B	OMIM:309801
HP:0011024	Abnormality of the gastrointestinal tract	3052	HCCS	OMIM:309801
HP:0011024	Abnormality of the gastrointestinal tract	54539	NDUFB11	OMIM:309801
HP:0011024	Abnormality of the gastrointestinal tract	55773	TBC1D23	OMIM:617695
HP:0011024	Abnormality of the gastrointestinal tract	92002	CCNQ	OMIM:300707
HP:0011024	Abnormality of the gastrointestinal tract	92002	CCNQ	ORPHA:140952
HP:0011024	Abnormality of the gastrointestinal tract	8239	USP9X	ORPHA:480880
HP:0011024	Abnormality of the gastrointestinal tract	8239	USP9X	OMIM:300968
HP:0011024	Abnormality of the gastrointestinal tract	10653	SPINT2	OMIM:270420
HP:0011024	Abnormality of the gastrointestinal tract	79228	THOC6	ORPHA:363444
HP:0011024	Abnormality of the gastrointestinal tract	79813	EHMT1	ORPHA:261652
HP:0011024	Abnormality of the gastrointestinal tract	58508	KMT2C	ORPHA:261652
HP:0011024	Abnormality of the gastrointestinal tract	51339	DACT1	OMIM:617466
HP:0011024	Abnormality of the gastrointestinal tract	51339	DACT1	ORPHA:857
HP:0011024	Abnormality of the gastrointestinal tract	51339	DACT1	ORPHA:63260
HP:0011024	Abnormality of the gastrointestinal tract	23112	TNRC6B	OMIM:619243
HP:0011024	Abnormality of the gastrointestinal tract	7291	TWIST1	OMIM:617746
HP:0011024	Abnormality of the gastrointestinal tract	9897	WASHC5	OMIM:220210
HP:0011024	Abnormality of the gastrointestinal tract	9897	WASHC5	ORPHA:7
HP:0011024	Abnormality of the gastrointestinal tract	153241	CEP120	OMIM:616300
HP:0011024	Abnormality of the gastrointestinal tract	7476	WNT7A	ORPHA:2879
HP:0011024	Abnormality of the gastrointestinal tract	1807	DPYS	OMIM:222748
HP:0011024	Abnormality of the gastrointestinal tract	3239	HOXD13	ORPHA:887
HP:0011024	Abnormality of the gastrointestinal tract	28952	CCDC22	ORPHA:7
HP:0011024	Abnormality of the gastrointestinal tract	51733	UPB1	OMIM:613161
HP:0011024	Abnormality of the gastrointestinal tract	54903	MKS1	OMIM:249000
HP:0011024	Abnormality of the gastrointestinal tract	9573	GDF3	ORPHA:2345
HP:0011024	Abnormality of the gastrointestinal tract	392255	GDF6	ORPHA:2345
HP:0011024	Abnormality of the gastrointestinal tract	4222	MEOX1	ORPHA:2345
HP:0011024	Abnormality of the gastrointestinal tract	27152	INTU	OMIM:617925
HP:0011024	Abnormality of the gastrointestinal tract	2719	GPC3	OMIM:312870
HP:0011024	Abnormality of the gastrointestinal tract	2239	GPC4	OMIM:312870
HP:0011024	Abnormality of the gastrointestinal tract	171023	ASXL1	ORPHA:98850
HP:0011024	Abnormality of the gastrointestinal tract	54790	TET2	ORPHA:98850
HP:0011024	Abnormality of the gastrointestinal tract	867	CBL	ORPHA:98850
HP:0011024	Abnormality of the gastrointestinal tract	861	RUNX1	ORPHA:98850
HP:0011024	Abnormality of the gastrointestinal tract	6427	SRSF2	ORPHA:98850
HP:0011024	Abnormality of the gastrointestinal tract	118429	ANTXR2	ORPHA:2176
HP:0011024	Abnormality of the gastrointestinal tract	7518	XRCC4	ORPHA:99812
HP:0011024	Abnormality of the gastrointestinal tract	80270	HSD3B7	ORPHA:79301
HP:0011024	Abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:99811
HP:0011024	Abnormality of the gastrointestinal tract	4292	MLH1	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	27030	MLH3	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	22909	FAN1	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	7048	TGFBR2	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	3845	KRAS	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	5290	PIK3CA	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	2956	MSH6	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	4436	MSH2	ORPHA:144
HP:0011024	Abnormality of the gastrointestinal tract	55630	SLC39A4	ORPHA:37
HP:0011024	Abnormality of the gastrointestinal tract	6514	SLC2A2	OMIM:227810
HP:0011024	Abnormality of the gastrointestinal tract	50674	NEUROG3	ORPHA:83620
HP:0011024	Abnormality of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0011024	Abnormality of the gastrointestinal tract	657	BMPR1A	ORPHA:440437
HP:0011024	Abnormality of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0011024	Abnormality of the gastrointestinal tract	10525	HYOU1	OMIM:233600
HP:0011024	Abnormality of the gastrointestinal tract	4952	OCRL	ORPHA:534
HP:0011024	Abnormality of the gastrointestinal tract	1536	CYBB	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	4688	NCF2	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	1535	CYBA	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	4689	NCF4	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	79415	CYBC1	ORPHA:379
HP:0011024	Abnormality of the gastrointestinal tract	170302	ARX	ORPHA:452
HP:0011024	Abnormality of the gastrointestinal tract	9663	LPIN2	ORPHA:77297
HP:0011024	Abnormality of the gastrointestinal tract	2717	GLA	ORPHA:324
HP:0011024	Abnormality of the gastrointestinal tract	3248	HPGD	ORPHA:2796
HP:0011024	Abnormality of the gastrointestinal tract	6578	SLCO2A1	ORPHA:2796
HP:0011024	Abnormality of the gastrointestinal tract	538	ATP7A	ORPHA:565
HP:0011024	Abnormality of the gastrointestinal tract	2068	ERCC2	OMIM:601675
HP:0011024	Abnormality of the gastrointestinal tract	3070	HELLS	ORPHA:2268
HP:0011024	Abnormality of the gastrointestinal tract	1789	DNMT3B	ORPHA:2268
HP:0011024	Abnormality of the gastrointestinal tract	1789	DNMT3B	OMIM:242860
HP:0011024	Abnormality of the gastrointestinal tract	83879	CDCA7	ORPHA:2268
HP:0011024	Abnormality of the gastrointestinal tract	9841	ZBTB24	ORPHA:2268
HP:0011024	Abnormality of the gastrointestinal tract	113235	SLC46A1	OMIM:229050
HP:0011024	Abnormality of the gastrointestinal tract	175	AGA	ORPHA:93
HP:0011024	Abnormality of the gastrointestinal tract	1499	CTNNB1	ORPHA:873
HP:0011024	Abnormality of the gastrointestinal tract	324	APC	ORPHA:873
HP:0011024	Abnormality of the gastrointestinal tract	30011	SH3KBP1	OMIM:300310
HP:0011024	Abnormality of the gastrointestinal tract	4261	CIITA	OMIM:209920
HP:0011024	Abnormality of the gastrointestinal tract	5994	RFXAP	OMIM:209920
HP:0011024	Abnormality of the gastrointestinal tract	5993	RFX5	OMIM:209920
HP:0011024	Abnormality of the gastrointestinal tract	8625	RFXANK	OMIM:209920
HP:0011024	Abnormality of the gastrointestinal tract	222546	RFX6	OMIM:615710
HP:0011024	Abnormality of the gastrointestinal tract	9508	ADAMTS3	ORPHA:2136
HP:0011024	Abnormality of the gastrointestinal tract	147372	CCBE1	ORPHA:2136
HP:0011024	Abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	7461	CLIP2	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	84277	DNAJC30	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	8468	FKBP6	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	5982	RFC2	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	2969	GTF2I	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	3984	LIMK1	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	9569	GTF2IRD1	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	155382	VPS37D	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	155368	METTL27	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	114049	BUD23	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	7458	EIF4H	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	84163	GTF2IRD2	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	9275	BCL7B	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	26608	TBL2	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	135886	TMEM270	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	51085	MLXIPL	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	9031	BAZ1B	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	2006	ELN	ORPHA:904
HP:0011024	Abnormality of the gastrointestinal tract	1890	TYMP	OMIM:603041
HP:0011024	Abnormality of the gastrointestinal tract	5428	POLG	OMIM:603041
HP:0011024	Abnormality of the gastrointestinal tract	5428	POLG	OMIM:613662
HP:0011024	Abnormality of the gastrointestinal tract	493856	CISD2	ORPHA:3463
HP:0011024	Abnormality of the gastrointestinal tract	7466	WFS1	ORPHA:3463
HP:0011024	Abnormality of the gastrointestinal tract	4567	MT-TL1	ORPHA:225
HP:0011024	Abnormality of the gastrointestinal tract	4556	MT-TE	ORPHA:225
HP:0011024	Abnormality of the gastrointestinal tract	4566	MT-TK	ORPHA:225
HP:0011024	Abnormality of the gastrointestinal tract	6523	SLC5A1	OMIM:606824
HP:0011024	Abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:342
HP:0011024	Abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	2947	GSTM3	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	7040	TGFB1	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	2729	GCLC	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	1084	CEACAM3	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	6556	SLC11A1	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	51164	DCTN4	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	3783	KCNN4	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	4282	MIF	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	1909	EDNRA	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	6550	SLC9A3	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	3162	HMOX1	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	115019	SLC26A9	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	3077	HFE	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	11254	SLC6A14	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	5265	SERPINA1	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	1080	CFTR	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	22802	CLCA4	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	4680	CEACAM6	ORPHA:586
HP:0011024	Abnormality of the gastrointestinal tract	5244	ABCB4	OMIM:602347
HP:0011024	Abnormality of the gastrointestinal tract	8567	MADD	OMIM:619004
HP:0011024	Abnormality of the gastrointestinal tract	6288	SAA1	ORPHA:85445
HP:0011024	Abnormality of the gastrointestinal tract	57570	TRMT5	OMIM:616539
HP:0011024	Abnormality of the gastrointestinal tract	3662	IRF4	ORPHA:3452
HP:0011024	Abnormality of the gastrointestinal tract	695	BTK	ORPHA:47
HP:0011024	Abnormality of the gastrointestinal tract	811	CALR	ORPHA:131
HP:0011024	Abnormality of the gastrointestinal tract	3717	JAK2	ORPHA:131
HP:0011024	Abnormality of the gastrointestinal tract	2153	F5	ORPHA:131
HP:0011024	Abnormality of the gastrointestinal tract	5122	PCSK1	OMIM:600955
HP:0011024	Abnormality of the gastrointestinal tract	326	AIRE	OMIM:240300
HP:0011024	Abnormality of the gastrointestinal tract	1758	DMP1	ORPHA:289176
HP:0011024	Abnormality of the gastrointestinal tract	5167	ENPP1	ORPHA:289176
HP:0011024	Abnormality of the gastrointestinal tract	340024	SLC6A19	ORPHA:2116
HP:0011024	Abnormality of the gastrointestinal tract	57393	CLTRN	ORPHA:2116
HP:0011024	Abnormality of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0011024	Abnormality of the gastrointestinal tract	11181	TREH	ORPHA:103909
HP:0011024	Abnormality of the gastrointestinal tract	6476	SI	OMIM:222900
HP:0011024	Abnormality of the gastrointestinal tract	4615	MYD88	ORPHA:33226
HP:0011024	Abnormality of the gastrointestinal tract	1604	CD55	OMIM:226300
HP:0011024	Abnormality of the gastrointestinal tract	80169	CTC1	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	26277	TINF2	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	55651	NHP2	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	79650	USB1	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	55135	WRAP53	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	51750	RTEL1	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	4869	NPM1	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	7012	TERC	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	55505	NOP10	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	5073	PARN	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	7015	TERT	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	1736	DKC1	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	7298	TYMS	ORPHA:1775
HP:0011024	Abnormality of the gastrointestinal tract	55315	SLC29A3	ORPHA:168569
HP:0011024	Abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220393
HP:0011024	Abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220393
HP:0011024	Abnormality of the gastrointestinal tract	3663	IRF5	ORPHA:220393
HP:0011024	Abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220393
HP:0011024	Abnormality of the gastrointestinal tract	3123	HLA-DRB1	ORPHA:220393
HP:0011024	Abnormality of the gastrointestinal tract	1828	DSG1	OMIM:615508
HP:0011024	Abnormality of the gastrointestinal tract	55670	PEX26	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5824	PEX19	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5828	PEX2	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	8504	PEX3	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	8799	PEX11B	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	9409	PEX16	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5190	PEX6	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5830	PEX5	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5189	PEX1	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5193	PEX12	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5194	PEX13	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5195	PEX14	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	5192	PEX10	ORPHA:912
HP:0011024	Abnormality of the gastrointestinal tract	204	AK2	ORPHA:33355
HP:0011024	Abnormality of the gastrointestinal tract	6929	TCF3	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	973	CD79A	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	974	CD79B	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	3543	IGLL1	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	3507	IGHM	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	29760	BLNK	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	5295	PIK3R1	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	56262	LRRC8A	ORPHA:33110
HP:0011024	Abnormality of the gastrointestinal tract	149233	IL23R	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	6775	STAT4	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	3586	IL10	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	1230	CCR1	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	355	FAS	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	3592	IL12A	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	101928376	IL12A-AS1	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	3106	HLA-B	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	7099	TLR4	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	3459	IFNGR1	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	720	C4A	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	337867	UBAC2	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	51752	ERAP1	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	8302	KLRC4	ORPHA:117
HP:0011024	Abnormality of the gastrointestinal tract	11005	SPINK5	ORPHA:634
HP:0011024	Abnormality of the gastrointestinal tract	139285	AMER1	OMIM:300373
HP:0011024	Abnormality of the gastrointestinal tract	3981	LIG4	ORPHA:235
HP:0011024	Abnormality of the gastrointestinal tract	54888	NSUN2	ORPHA:235
HP:0011024	Abnormality of the gastrointestinal tract	23556	PIGN	OMIM:614080
HP:0011024	Abnormality of the gastrointestinal tract	23556	PIGN	ORPHA:280633
HP:0011024	Abnormality of the gastrointestinal tract	80144	FRAS1	ORPHA:2052
HP:0011024	Abnormality of the gastrointestinal tract	23426	GRIP1	ORPHA:2052
HP:0011024	Abnormality of the gastrointestinal tract	6628	SNRPB	OMIM:117650
HP:0011024	Abnormality of the gastrointestinal tract	6608	SMO	OMIM:601707
HP:0011024	Abnormality of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0011024	Abnormality of the gastrointestinal tract	4683	NBN	ORPHA:647
HP:0011024	Abnormality of the gastrointestinal tract	23522	KAT6B	OMIM:606170
HP:0011024	Abnormality of the gastrointestinal tract	6023	RMRP	OMIM:250250
HP:0011024	Abnormality of the gastrointestinal tract	775	CACNA1C	OMIM:620029
HP:0011024	Abnormality of the gastrointestinal tract	27315	PGAP2	OMIM:614207
HP:0011024	Abnormality of the gastrointestinal tract	158326	FREM1	ORPHA:2717
HP:0011024	Abnormality of the gastrointestinal tract	158326	FREM1	ORPHA:217266
HP:0011024	Abnormality of the gastrointestinal tract	158326	FREM1	OMIM:248450
HP:0011024	Abnormality of the gastrointestinal tract	84720	PIGO	OMIM:614749
HP:0011024	Abnormality of the gastrointestinal tract	5308	PITX2	OMIM:180500
HP:0011024	Abnormality of the gastrointestinal tract	5308	PITX2	ORPHA:782
HP:0011024	Abnormality of the gastrointestinal tract	3110	MNX1	OMIM:176450
HP:0011024	Abnormality of the gastrointestinal tract	57167	SALL4	OMIM:607323
HP:0011024	Abnormality of the gastrointestinal tract	8626	TP63	OMIM:604292
HP:0011024	Abnormality of the gastrointestinal tract	1009	CDH11	OMIM:211380
HP:0011024	Abnormality of the gastrointestinal tract	2296	FOXC1	ORPHA:782
HP:0011024	Abnormality of the gastrointestinal tract	6299	SALL1	OMIM:107480
HP:0011024	Abnormality of the gastrointestinal tract	6926	TBX3	OMIM:181450
HP:0011024	Abnormality of the gastrointestinal tract	8318	CDC45	OMIM:617063
HP:0011024	Abnormality of the gastrointestinal tract	54101	RIPK4	OMIM:263650
HP:0011024	Abnormality of the gastrointestinal tract	84667	HES7	OMIM:613686
HP:0011024	Abnormality of the gastrointestinal tract	55612	FERMT1	OMIM:173650
HP:0011024	Abnormality of the gastrointestinal tract	55636	CHD7	OMIM:214800
HP:0011024	Abnormality of the gastrointestinal tract	79633	FAT4	ORPHA:314679
HP:0011024	Abnormality of the gastrointestinal tract	8642	DCHS1	ORPHA:314679
HP:0011024	Abnormality of the gastrointestinal tract	9968	MED12	OMIM:305450
HP:0011024	Abnormality of the gastrointestinal tract	8085	KMT2D	OMIM:147920
HP:0011024	Abnormality of the gastrointestinal tract	7403	KDM6A	OMIM:147920
HP:0011024	Abnormality of the gastrointestinal tract	6657	SOX2	ORPHA:77298
HP:0011024	Abnormality of the gastrointestinal tract	6657	SOX2	OMIM:206900
HP:0011024	Abnormality of the gastrointestinal tract	6657	SOX2	ORPHA:3157
HP:0011024	Abnormality of the gastrointestinal tract	7528	YY1	ORPHA:506358
HP:0011024	Abnormality of the gastrointestinal tract	5339	PLEC	OMIM:226730
HP:0011024	Abnormality of the gastrointestinal tract	3691	ITGB4	OMIM:226730
HP:0011024	Abnormality of the gastrointestinal tract	10606	PAICS	OMIM:619859
HP:0011024	Abnormality of the gastrointestinal tract	5422	POLA1	OMIM:301030
HP:0011024	Abnormality of the gastrointestinal tract	51729	WBP11	OMIM:619227
HP:0011024	Abnormality of the gastrointestinal tract	6602	SMARCD1	OMIM:618779
HP:0011024	Abnormality of the gastrointestinal tract	4990	SIX6	OMIM:206900
HP:0011024	Abnormality of the gastrointestinal tract	9343	EFTUD2	OMIM:610536
HP:0011024	Abnormality of the gastrointestinal tract	128674	PROKR2	ORPHA:3157
HP:0011024	Abnormality of the gastrointestinal tract	6658	SOX3	ORPHA:3157
HP:0011024	Abnormality of the gastrointestinal tract	8820	HESX1	ORPHA:3157
HP:0011024	Abnormality of the gastrointestinal tract	5015	OTX2	ORPHA:3157
HP:0011024	Abnormality of the gastrointestinal tract	5053	PAH	ORPHA:2209
HP:0011024	Abnormality of the gastrointestinal tract	55650	PIGV	OMIM:239300
HP:0011024	Abnormality of the gastrointestinal tract	6197	RPS6KA3	OMIM:303600
HP:0011024	Abnormality of the gastrointestinal tract	2212	FCGR2A	OMIM:219700
HP:0011024	Abnormality of the gastrointestinal tract	6794	STK11	ORPHA:2869
HP:0011024	Abnormality of the gastrointestinal tract	6794	STK11	OMIM:175200
HP:0011024	Abnormality of the gastrointestinal tract	5728	PTEN	ORPHA:79076
HP:0011024	Abnormality of the gastrointestinal tract	84942	WDR73	OMIM:251300
HP:0011024	Abnormality of the gastrointestinal tract	84942	WDR73	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	7148	TNXB	OMIM:606408
HP:0011024	Abnormality of the gastrointestinal tract	113189	CHST14	OMIM:601776
HP:0011024	Abnormality of the gastrointestinal tract	715	C1R	OMIM:130080
HP:0011024	Abnormality of the gastrointestinal tract	7043	TGFB3	OMIM:615582
HP:0011024	Abnormality of the gastrointestinal tract	169792	GLIS3	OMIM:610199
HP:0011024	Abnormality of the gastrointestinal tract	51002	TPRKB	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	55644	OSGEP	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	55644	OSGEP	OMIM:617729
HP:0011024	Abnormality of the gastrointestinal tract	57122	NUP107	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	10785	WDR4	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	55746	NUP133	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	112858	TP53RK	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	8270	LAGE3	ORPHA:2065
HP:0011024	Abnormality of the gastrointestinal tract	2165	F13B	ORPHA:331
HP:0011024	Abnormality of the gastrointestinal tract	2162	F13A1	ORPHA:331
HP:0011024	Abnormality of the gastrointestinal tract	7454	WAS	OMIM:301000
HP:0011024	Abnormality of the gastrointestinal tract	7454	WAS	ORPHA:906
HP:0011024	Abnormality of the gastrointestinal tract	331	XIAP	OMIM:300635
HP:0011024	Abnormality of the gastrointestinal tract	10616	RBCK1	OMIM:615895
HP:0011024	Abnormality of the gastrointestinal tract	5243	ABCB1	OMIM:612244
HP:0011024	Abnormality of the gastrointestinal tract	3257	HPS1	OMIM:203300
HP:0011024	Abnormality of the gastrointestinal tract	987	LRBA	OMIM:614700
HP:0011024	Abnormality of the gastrointestinal tract	7456	WIPF1	ORPHA:906
HP:0011024	Abnormality of the gastrointestinal tract	8737	RIPK1	OMIM:618108
HP:0011024	Abnormality of the gastrointestinal tract	10095	ARPC1B	OMIM:617718
HP:0011024	Abnormality of the gastrointestinal tract	2000	ELF4	OMIM:301074
HP:0011024	Abnormality of the gastrointestinal tract	64127	NOD2	OMIM:266600
HP:0011024	Abnormality of the gastrointestinal tract	3569	IL6	OMIM:266600
HP:0011024	Abnormality of the gastrointestinal tract	57511	COG6	OMIM:614576
HP:0011024	Abnormality of the gastrointestinal tract	345611	IRGM	OMIM:612278
HP:0011024	Abnormality of the gastrointestinal tract	59067	IL21	OMIM:615767
HP:0011024	Abnormality of the gastrointestinal tract	64858	DCLRE1B	OMIM:620133
HP:0011024	Abnormality of the gastrointestinal tract	55532	SLC30A10	ORPHA:309854
HP:0011024	Abnormality of the gastrointestinal tract	2632	GBE1	OMIM:232500
HP:0011024	Abnormality of the gastrointestinal tract	3875	KRT18	OMIM:215600
HP:0011024	Abnormality of the gastrointestinal tract	113220	KIF12	OMIM:619662
HP:0011024	Abnormality of the gastrointestinal tract	51473	DCDC2	ORPHA:84081
HP:0011024	Abnormality of the gastrointestinal tract	9371	KIF3B	OMIM:618955
HP:0011024	Abnormality of the gastrointestinal tract	10892	MALT1	OMIM:615468
HP:0011024	Abnormality of the gastrointestinal tract	2642	GCGR	ORPHA:438274
HP:0011024	Abnormality of the gastrointestinal tract	84665	MYPN	ORPHA:171439
HP:0011024	Abnormality of the gastrointestinal tract	390594	KBTBD13	ORPHA:171439
HP:0011024	Abnormality of the gastrointestinal tract	10667	FARS2	ORPHA:466722
HP:0011024	Abnormality of the gastrointestinal tract	875	CBS	ORPHA:394
HP:0011024	Abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:274
HP:0011024	Abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:853
HP:0011024	Abnormality of the gastrointestinal tract	2811	GP1BA	OMIM:231200
HP:0011024	Abnormality of the gastrointestinal tract	2815	GP9	ORPHA:274
HP:0011024	Abnormality of the gastrointestinal tract	2815	GP9	OMIM:231200
HP:0011024	Abnormality of the gastrointestinal tract	229	ALDOB	OMIM:229600
HP:0011024	Abnormality of the gastrointestinal tract	5351	PLOD1	OMIM:225400
HP:0011024	Abnormality of the gastrointestinal tract	2158	F9	OMIM:306900
HP:0011024	Abnormality of the gastrointestinal tract	4609	MYC	ORPHA:543
HP:0011024	Abnormality of the gastrointestinal tract	843	CASP10	OMIM:603909
HP:0011024	Abnormality of the gastrointestinal tract	7248	TSC1	ORPHA:538
HP:0011024	Abnormality of the gastrointestinal tract	7249	TSC2	ORPHA:538
HP:0011024	Abnormality of the gastrointestinal tract	10320	IKZF1	ORPHA:36426
HP:0011024	Abnormality of the gastrointestinal tract	4352	MPL	ORPHA:729
HP:0011024	Abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:849
HP:0011024	Abnormality of the gastrointestinal tract	3674	ITGA2B	OMIM:273800
HP:0011024	Abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:853
HP:0011024	Abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:849
HP:0011024	Abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:853
HP:0011024	Abnormality of the gastrointestinal tract	7132	TNFRSF1A	OMIM:142680
HP:0011024	Abnormality of the gastrointestinal tract	55109	AGGF1	ORPHA:90308
HP:0011024	Abnormality of the gastrointestinal tract	2160	F11	ORPHA:329
HP:0011024	Abnormality of the gastrointestinal tract	2159	F10	ORPHA:328
HP:0011024	Abnormality of the gastrointestinal tract	9103	FCGR2C	ORPHA:3002
HP:0011024	Abnormality of the gastrointestinal tract	2155	F7	ORPHA:327
HP:0011024	Abnormality of the gastrointestinal tract	6392	SDHD	ORPHA:97286
HP:0011024	Abnormality of the gastrointestinal tract	7450	VWF	OMIM:193400
HP:0011024	Abnormality of the gastrointestinal tract	11277	TREX1	OMIM:192315
HP:0011024	Abnormality of the gastrointestinal tract	11277	TREX1	ORPHA:247691
HP:0011024	Abnormality of the gastrointestinal tract	1493	CTLA4	ORPHA:900
HP:0011024	Abnormality of the gastrointestinal tract	26191	PTPN22	ORPHA:900
HP:0011024	Abnormality of the gastrointestinal tract	3115	HLA-DPB1	ORPHA:900
HP:0011024	Abnormality of the gastrointestinal tract	5657	PRTN3	ORPHA:900
HP:0011024	Abnormality of the gastrointestinal tract	3113	HLA-DPA1	ORPHA:900
HP:0011024	Abnormality of the gastrointestinal tract	4598	MVK	ORPHA:343
HP:0011024	Abnormality of the gastrointestinal tract	2243	FGA	ORPHA:98881
HP:0011024	Abnormality of the gastrointestinal tract	2243	FGA	ORPHA:101041
HP:0011024	Abnormality of the gastrointestinal tract	2244	FGB	ORPHA:98881
HP:0011024	Abnormality of the gastrointestinal tract	2244	FGB	ORPHA:101041
HP:0011024	Abnormality of the gastrointestinal tract	2266	FGG	ORPHA:98881
HP:0011024	Abnormality of the gastrointestinal tract	2266	FGG	ORPHA:101041
HP:0011024	Abnormality of the gastrointestinal tract	5054	SERPINE1	ORPHA:465
HP:0011024	Abnormality of the gastrointestinal tract	368	ABCC6	OMIM:177850
HP:0011024	Abnormality of the gastrointestinal tract	368	ABCC6	OMIM:264800
HP:0011024	Abnormality of the gastrointestinal tract	368	ABCC6	ORPHA:758
HP:0011024	Abnormality of the gastrointestinal tract	64131	XYLT1	OMIM:264800
HP:0011024	Abnormality of the gastrointestinal tract	64132	XYLT2	OMIM:264800
HP:0011024	Abnormality of the gastrointestinal tract	3998	LMAN1	ORPHA:35909
HP:0011024	Abnormality of the gastrointestinal tract	90411	MCFD2	ORPHA:35909
HP:0011024	Abnormality of the gastrointestinal tract	10165	SLC25A13	ORPHA:247598
HP:0011024	Abnormality of the gastrointestinal tract	3516	RBPJ	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	4851	NOTCH1	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	57514	ARHGAP31	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	57572	DOCK6	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	285203	EOGT	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	54567	DLL4	ORPHA:974
HP:0011024	Abnormality of the gastrointestinal tract	3673	ITGA2	ORPHA:853
HP:0011024	Abnormality of the gastrointestinal tract	135228	CD109	ORPHA:853
HP:0011024	Abnormality of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0011024	Abnormality of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0011024	Abnormality of the gastrointestinal tract	2157	F8	ORPHA:169805
HP:0011024	Abnormality of the gastrointestinal tract	2157	F8	ORPHA:169802
HP:0011024	Abnormality of the gastrointestinal tract	2147	F2	OMIM:613679
HP:0011024	Abnormality of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0011024	Abnormality of the gastrointestinal tract	8328	GFI1B	OMIM:187900
HP:0011024	Abnormality of the gastrointestinal tract	4854	NOTCH3	ORPHA:2591
HP:0011024	Abnormality of the gastrointestinal tract	5159	PDGFRB	ORPHA:2591
HP:0011024	Abnormality of the gastrointestinal tract	10043	TOM1	ORPHA:391487
HP:0011024	Abnormality of the gastrointestinal tract	164656	TMPRSS6	ORPHA:209981
HP:0011024	Abnormality of the gastrointestinal tract	6774	STAT3	OMIM:615952
HP:0011024	Abnormality of the gastrointestinal tract	8516	ITGA8	ORPHA:1848
HP:0011024	Abnormality of the gastrointestinal tract	26281	FGF20	ORPHA:1848
HP:0011024	Abnormality of the gastrointestinal tract	2674	GFRA1	ORPHA:1848
HP:0011024	Abnormality of the gastrointestinal tract	7484	WNT9B	ORPHA:1848
HP:0011024	Abnormality of the gastrointestinal tract	80000	GREB1L	ORPHA:1848
HP:0011024	Abnormality of the gastrointestinal tract	1281	COL3A1	ORPHA:286
HP:0011024	Abnormality of the gastrointestinal tract	162	AP1B1	ORPHA:171851
HP:0011024	Abnormality of the gastrointestinal tract	1174	AP1S1	ORPHA:171851
HP:0011024	Abnormality of the gastrointestinal tract	50485	SMARCAL1	ORPHA:1830
HP:0011024	Abnormality of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0011024	Abnormality of the gastrointestinal tract	4645	MYO5B	OMIM:251850
HP:0011024	Abnormality of the gastrointestinal tract	1908	EDN3	ORPHA:897
HP:0011024	Abnormality of the gastrointestinal tract	1910	EDNRB	ORPHA:897
HP:0011024	Abnormality of the gastrointestinal tract	6663	SOX10	ORPHA:897
HP:0011024	Abnormality of the gastrointestinal tract	83483	PLVAP	OMIM:618183
HP:0011024	Abnormality of the gastrointestinal tract	4351	MPI	ORPHA:79319
HP:0011024	Abnormality of the gastrointestinal tract	4351	MPI	OMIM:602579
HP:0011024	Abnormality of the gastrointestinal tract	6772	STAT1	OMIM:614162
HP:0011024	Abnormality of the gastrointestinal tract	54914	FOCAD	OMIM:619991
HP:0011024	Abnormality of the gastrointestinal tract	5286	PIK3C2A	OMIM:618440
HP:0011024	Abnormality of the gastrointestinal tract	22900	CARD8	OMIM:619079
HP:0011024	Abnormality of the gastrointestinal tract	29929	ALG6	ORPHA:79320
HP:0011024	Abnormality of the gastrointestinal tract	56052	ALG1	ORPHA:79327
HP:0011024	Abnormality of the gastrointestinal tract	100303755	PET117	OMIM:619063
HP:0011024	Abnormality of the gastrointestinal tract	8694	DGAT1	OMIM:615863
HP:0011024	Abnormality of the gastrointestinal tract	84342	COG8	ORPHA:95428
HP:0011024	Abnormality of the gastrointestinal tract	79053	ALG8	OMIM:608104
HP:0011024	Abnormality of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0011024	Abnormality of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0011024	Abnormality of the gastrointestinal tract	7852	CXCR4	ORPHA:51636
HP:0011024	Abnormality of the gastrointestinal tract	9939	RBM8A	OMIM:274000
HP:0011024	Abnormality of the gastrointestinal tract	8241	RBM10	OMIM:311900
HP:0011024	Abnormality of the gastrointestinal tract	51780	KDM3B	OMIM:618846
HP:0011024	Abnormality of the gastrointestinal tract	815	CAMK2A	OMIM:617798
HP:0011024	Abnormality of the gastrointestinal tract	1063	CENPF	OMIM:243605
HP:0011024	Abnormality of the gastrointestinal tract	25914	RTTN	ORPHA:468631
HP:0011024	Abnormality of the gastrointestinal tract	25790	CFAP45	OMIM:619608
HP:0011024	Abnormality of the gastrointestinal tract	2201	FBN2	ORPHA:115
HP:0011024	Abnormality of the gastrointestinal tract	64135	IFIH1	OMIM:615846
HP:0011024	Abnormality of the gastrointestinal tract	9493	KIF23	ORPHA:98870
HP:0011024	Abnormality of the gastrointestinal tract	29127	RACGAP1	ORPHA:98870
HP:0011024	Abnormality of the gastrointestinal tract	1616	DAXX	ORPHA:100075
HP:0011024	Abnormality of the gastrointestinal tract	79600	TCTN1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	51684	SUFU	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	54806	AHI1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	54806	AHI1	ORPHA:220493
HP:0011024	Abnormality of the gastrointestinal tract	65250	CPLANE1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	91147	TMEM67	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	200894	ARL13B	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	9731	CEP104	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	219844	HYLS1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	23247	KATNIP	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	219854	TMEM218	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	95681	CEP41	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	95681	CEP41	ORPHA:220493
HP:0011024	Abnormality of the gastrointestinal tract	56623	INPP5E	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	56623	INPP5E	ORPHA:220493
HP:0011024	Abnormality of the gastrointestinal tract	79867	TCTN2	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	80776	B9D2	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	10464	PIBF1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	80210	ARMC9	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	23116	TOGARAM1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	25776	CBY1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	27077	B9D1	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	403	ARL3	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:475
HP:0011024	Abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:220497
HP:0011024	Abnormality of the gastrointestinal tract	65062	TMEM237	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	6535	SLC6A8	OMIM:300352
HP:0011024	Abnormality of the gastrointestinal tract	6535	SLC6A8	ORPHA:52503
HP:0011024	Abnormality of the gastrointestinal tract	10262	SF3B4	OMIM:154400
HP:0011024	Abnormality of the gastrointestinal tract	26128	KIFBP	OMIM:609460
HP:0011024	Abnormality of the gastrointestinal tract	26128	KIFBP	ORPHA:66629
HP:0011024	Abnormality of the gastrointestinal tract	627	BDNF	ORPHA:661
HP:0011024	Abnormality of the gastrointestinal tract	51360	MBTPS2	OMIM:308205
HP:0011024	Abnormality of the gastrointestinal tract	51360	MBTPS2	ORPHA:2273
HP:0011024	Abnormality of the gastrointestinal tract	51360	MBTPS2	ORPHA:85284
HP:0011024	Abnormality of the gastrointestinal tract	83479	DDX59	ORPHA:2919
HP:0011024	Abnormality of the gastrointestinal tract	83479	DDX59	OMIM:174300
HP:0011024	Abnormality of the gastrointestinal tract	23322	RPGRIP1L	ORPHA:220497
HP:0011024	Abnormality of the gastrointestinal tract	4867	NPHP1	ORPHA:220497
HP:0011024	Abnormality of the gastrointestinal tract	6591	SNAI2	ORPHA:2884
HP:0011024	Abnormality of the gastrointestinal tract	6591	SNAI2	ORPHA:895
HP:0011024	Abnormality of the gastrointestinal tract	7846	TUBA1A	ORPHA:171680
HP:0011024	Abnormality of the gastrointestinal tract	7299	TYR	ORPHA:895
HP:0011024	Abnormality of the gastrointestinal tract	4254	KITLG	ORPHA:895
HP:0011024	Abnormality of the gastrointestinal tract	5077	PAX3	ORPHA:894
HP:0011024	Abnormality of the gastrointestinal tract	5077	PAX3	OMIM:148820
HP:0011024	Abnormality of the gastrointestinal tract	84992	PIGY	ORPHA:247262
HP:0011024	Abnormality of the gastrointestinal tract	93210	PGAP3	ORPHA:247262
HP:0011024	Abnormality of the gastrointestinal tract	284098	PIGW	ORPHA:247262
HP:0011024	Abnormality of the gastrointestinal tract	9487	PIGL	ORPHA:247262
HP:0011024	Abnormality of the gastrointestinal tract	84100	ARL6	OMIM:209900
HP:0011024	Abnormality of the gastrointestinal tract	79140	CCDC28B	OMIM:209900
HP:0011024	Abnormality of the gastrointestinal tract	582	BBS1	OMIM:209900
HP:0011024	Abnormality of the gastrointestinal tract	79583	TMEM231	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	51524	TMEM138	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	23090	ZNF423	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	80184	CEP290	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	51259	TMEM216	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	57545	CC2D2A	ORPHA:2318
HP:0011024	Abnormality of the gastrointestinal tract	3897	L1CAM	OMIM:304100
HP:0011024	Abnormality of the gastrointestinal tract	3897	L1CAM	ORPHA:1497
HP:0011024	Abnormality of the gastrointestinal tract	2065	ERBB3	OMIM:243180
HP:0011024	Abnormality of the gastrointestinal tract	5310	PKD1	OMIM:173900
HP:0011024	Abnormality of the gastrointestinal tract	4638	MYLK	OMIM:249210
HP:0011024	Abnormality of the gastrointestinal tract	4638	MYLK	ORPHA:2241
HP:0011024	Abnormality of the gastrointestinal tract	2138	EYA1	OMIM:113650
HP:0011024	Abnormality of the gastrointestinal tract	6495	SIX1	OMIM:113650
HP:0011024	Abnormality of the gastrointestinal tract	2627	GATA6	OMIM:600001
HP:0011024	Abnormality of the gastrointestinal tract	2627	GATA6	ORPHA:2140
HP:0011024	Abnormality of the gastrointestinal tract	2627	GATA6	ORPHA:2255
HP:0011024	Abnormality of the gastrointestinal tract	89910	UBE3B	OMIM:244450
HP:0011024	Abnormality of the gastrointestinal tract	8882	ZPR1	OMIM:619321
HP:0011024	Abnormality of the gastrointestinal tract	5915	RARB	OMIM:615524
HP:0011024	Abnormality of the gastrointestinal tract	55997	CFC1	OMIM:605376
HP:0011024	Abnormality of the gastrointestinal tract	4853	NOTCH2	OMIM:102500
HP:0011024	Abnormality of the gastrointestinal tract	4853	NOTCH2	ORPHA:955
HP:0011024	Abnormality of the gastrointestinal tract	118856	MMP21	OMIM:616749
HP:0011024	Abnormality of the gastrointestinal tract	3670	ISL1	ORPHA:93930
HP:0011024	Abnormality of the gastrointestinal tract	23592	LEMD3	ORPHA:94063
HP:0011024	Abnormality of the gastrointestinal tract	23414	ZFPM2	ORPHA:2140
HP:0011024	Abnormality of the gastrointestinal tract	4036	LRP2	ORPHA:2143
HP:0011024	Abnormality of the gastrointestinal tract	4036	LRP2	OMIM:222448
HP:0011024	Abnormality of the gastrointestinal tract	3192	HNRNPU	ORPHA:238769
HP:0011024	Abnormality of the gastrointestinal tract	1718	DHCR24	ORPHA:35107
HP:0011024	Abnormality of the gastrointestinal tract	27031	NPHP3	OMIM:208540
HP:0011024	Abnormality of the gastrointestinal tract	27031	NPHP3	ORPHA:3032
HP:0011024	Abnormality of the gastrointestinal tract	112752	IFT43	OMIM:617866
HP:0011024	Abnormality of the gastrointestinal tract	25802	LMOD1	ORPHA:2241
HP:0011024	Abnormality of the gastrointestinal tract	745	MYRF	OMIM:618280
HP:0011024	Abnormality of the gastrointestinal tract	4087	SMAD2	OMIM:619657
HP:0011024	Abnormality of the gastrointestinal tract	59	ACTA2	OMIM:613834
HP:0011024	Abnormality of the gastrointestinal tract	25981	DNAH1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	115948	ODAD3	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	54768	HYDIN	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	352909	DNAAF3	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	27148	STK36	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	51314	NME8	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	92749	DRC1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	54970	TTC12	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	152110	NEK10	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	8481	OFD1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	2302	FOXJ1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	221421	RSPH9	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	85478	CCDC65	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	55036	CCDC40	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	51364	ZMYND10	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	64446	DNAI2	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	6674	SPAG1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	83544	DNAL1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	89765	RSPH1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	83538	ODAD4	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	200373	CFAP221	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	374407	DNAJB13	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	55172	DNAAF2	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	2622	GAS8	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	23639	DNAAF11	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	27019	DNAI1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	345895	RSPH4A	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	54919	DNAAF5	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	6103	RPGR	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	388389	CCDC103	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	93233	ODAD1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	55130	ODAD2	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	1767	DNAH5	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	83861	RSPH3	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	345643	MCIDAS	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	56683	CFAP298	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	79925	SPEF2	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	10309	CCNO	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	115399	LRRC56	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	139212	DNAAF6	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	123872	DNAAF1	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	85016	CFAP300	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	339829	CCDC39	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	8701	DNAH11	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	1770	DNAH9	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	246176	GAS2L2	ORPHA:244
HP:0011024	Abnormality of the gastrointestinal tract	51128	SAR1B	OMIM:246700
HP:0011024	Abnormality of the gastrointestinal tract	51128	SAR1B	ORPHA:71
HP:0011024	Abnormality of the gastrointestinal tract	9414	TJP2	OMIM:607748
HP:0011024	Abnormality of the gastrointestinal tract	3988	LIPA	ORPHA:75233
HP:0011024	Abnormality of the gastrointestinal tract	3988	LIPA	OMIM:278000
HP:0011024	Abnormality of the gastrointestinal tract	9056	SLC7A7	ORPHA:470
HP:0011024	Abnormality of the gastrointestinal tract	51651	PTRH2	OMIM:616263
HP:0011024	Abnormality of the gastrointestinal tract	6555	SLC10A2	OMIM:613291
HP:0011024	Abnormality of the gastrointestinal tract	6718	AKR1D1	OMIM:235555
HP:0011024	Abnormality of the gastrointestinal tract	6718	AKR1D1	ORPHA:79303
HP:0011024	Abnormality of the gastrointestinal tract	338	APOB	OMIM:615558
HP:0011024	Abnormality of the gastrointestinal tract	256297	PTF1A	OMIM:615935
HP:0011024	Abnormality of the gastrointestinal tract	11330	CTRC	OMIM:167800
HP:0011024	Abnormality of the gastrointestinal tract	6690	SPINK1	OMIM:167800
HP:0011024	Abnormality of the gastrointestinal tract	5645	PRSS2	OMIM:167800
HP:0011024	Abnormality of the gastrointestinal tract	5644	PRSS1	OMIM:167800
HP:0011024	Abnormality of the gastrointestinal tract	4547	MTTP	ORPHA:14
HP:0011024	Abnormality of the gastrointestinal tract	123264	SLC51B	OMIM:619481
HP:0011024	Abnormality of the gastrointestinal tract	51119	SBDS	OMIM:260400
HP:0011024	Abnormality of the gastrointestinal tract	51119	SBDS	ORPHA:811
HP:0011024	Abnormality of the gastrointestinal tract	134218	DNAJC21	OMIM:260400
HP:0011024	Abnormality of the gastrointestinal tract	134218	DNAJC21	ORPHA:811
HP:0011024	Abnormality of the gastrointestinal tract	79631	EFL1	OMIM:617941
HP:0011024	Abnormality of the gastrointestinal tract	79631	EFL1	ORPHA:811
HP:0011024	Abnormality of the gastrointestinal tract	5406	PNLIP	OMIM:614338
HP:0011024	Abnormality of the gastrointestinal tract	8309	ACOX2	OMIM:617308
HP:0011024	Abnormality of the gastrointestinal tract	23729	SHPK	ORPHA:440713
HP:0011024	Abnormality of the gastrointestinal tract	84701	COX4I2	OMIM:612714
HP:0011024	Abnormality of the gastrointestinal tract	5373	PMM2	OMIM:212065
HP:0011024	Abnormality of the gastrointestinal tract	55699	IARS2	OMIM:616007
HP:0011024	Abnormality of the gastrointestinal tract	55699	IARS2	ORPHA:436174
HP:0011024	Abnormality of the gastrointestinal tract	60684	TRAPPC11	OMIM:615356
HP:0011024	Abnormality of the gastrointestinal tract	60684	TRAPPC11	ORPHA:869
HP:0011024	Abnormality of the gastrointestinal tract	8086	AAAS	ORPHA:869
HP:0011024	Abnormality of the gastrointestinal tract	8086	AAAS	OMIM:231550
HP:0011024	Abnormality of the gastrointestinal tract	57551	TAOK1	OMIM:619575
HP:0011024	Abnormality of the gastrointestinal tract	23600	AMACR	OMIM:214950
HP:0011024	Abnormality of the gastrointestinal tract	23600	AMACR	ORPHA:79095
HP:0011024	Abnormality of the gastrointestinal tract	10054	UBA2	OMIM:619959
HP:0011024	Abnormality of the gastrointestinal tract	55788	LMBRD1	OMIM:277380
HP:0011024	Abnormality of the gastrointestinal tract	412	STS	ORPHA:281090
HP:0011024	Abnormality of the gastrointestinal tract	4558	MT-TF	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4572	MT-TQ	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4512	MT-CO1	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4513	MT-CO2	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4514	MT-CO3	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4574	MT-TS1	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4575	MT-TS2	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	4564	MT-TH	ORPHA:550
HP:0011024	Abnormality of the gastrointestinal tract	28982	FLVCR1	ORPHA:88628
HP:0011024	Abnormality of the gastrointestinal tract	59335	PRDM12	OMIM:616488
HP:0011024	Abnormality of the gastrointestinal tract	8091	HMGA2	ORPHA:99971
HP:0011024	Abnormality of the gastrointestinal tract	25828	TXN2	ORPHA:478029
HP:0011024	Abnormality of the gastrointestinal tract	55148	UBR7	OMIM:619189
HP:0011024	Abnormality of the gastrointestinal tract	1649	DDIT3	ORPHA:99967
HP:0011024	Abnormality of the gastrointestinal tract	129563	DIS3L2	OMIM:267000
HP:0011024	Abnormality of the gastrointestinal tract	738	VPS51	OMIM:618606
HP:0011024	Abnormality of the gastrointestinal tract	50619	DEF6	OMIM:619573
HP:0011024	Abnormality of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0011024	Abnormality of the gastrointestinal tract	10125	RASGRP1	ORPHA:3261
HP:0011024	Abnormality of the gastrointestinal tract	10625	IVNS1ABP	OMIM:618969
HP:0011024	Abnormality of the gastrointestinal tract	6499	SKIC2	OMIM:614602
HP:0011024	Abnormality of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0011024	Abnormality of the gastrointestinal tract	5551	PRF1	ORPHA:540
HP:0011024	Abnormality of the gastrointestinal tract	8676	STX11	ORPHA:540
HP:0011024	Abnormality of the gastrointestinal tract	201294	UNC13D	ORPHA:540
HP:0011024	Abnormality of the gastrointestinal tract	6813	STXBP2	ORPHA:540
HP:0011024	Abnormality of the gastrointestinal tract	6813	STXBP2	OMIM:613101
HP:0011024	Abnormality of the gastrointestinal tract	8915	BCL10	OMIM:616098
HP:0011024	Abnormality of the gastrointestinal tract	23149	FCHO1	OMIM:619164
HP:0011024	Abnormality of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0011024	Abnormality of the gastrointestinal tract	5294	PIK3CG	OMIM:619802
HP:0011024	Abnormality of the gastrointestinal tract	338328	GPIHBP1	OMIM:615947
HP:0011024	Abnormality of the gastrointestinal tract	7010	TEK	ORPHA:1059
HP:0011024	Abnormality of the gastrointestinal tract	7010	TEK	OMIM:600195
HP:0011024	Abnormality of the gastrointestinal tract	5340	PLG	OMIM:217090
HP:0011024	Abnormality of the gastrointestinal tract	5340	PLG	ORPHA:722
HP:0011024	Abnormality of the gastrointestinal tract	57492	ARID1B	OMIM:135900
HP:0011024	Abnormality of the gastrointestinal tract	2130	EWSR1	ORPHA:83469
HP:0011024	Abnormality of the gastrointestinal tract	7490	WT1	ORPHA:83469
HP:0011024	Abnormality of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0011024	Abnormality of the gastrointestinal tract	26153	KIF26A	OMIM:620156
HP:0011024	Abnormality of the gastrointestinal tract	51256	TBC1D7	OMIM:248000
HP:0011024	Abnormality of the gastrointestinal tract	8651	SOCS1	OMIM:619375
HP:0011024	Abnormality of the gastrointestinal tract	6777	STAT5B	OMIM:618985
HP:0011024	Abnormality of the gastrointestinal tract	4953	ODC1	ORPHA:544488
HP:0011024	Abnormality of the gastrointestinal tract	11146	GLMN	ORPHA:83454
HP:0011024	Abnormality of the gastrointestinal tract	5205	ATP8B1	OMIM:211600
HP:0011024	Abnormality of the gastrointestinal tract	1028	CDKN1C	OMIM:130650
HP:0011024	Abnormality of the gastrointestinal tract	10984	KCNQ1OT1	OMIM:130650
HP:0011024	Abnormality of the gastrointestinal tract	3481	IGF2	OMIM:130650
HP:0011024	Abnormality of the gastrointestinal tract	3784	KCNQ1	OMIM:130650
HP:0011024	Abnormality of the gastrointestinal tract	6597	SMARCA4	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6598	SMARCB1	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6659	SOX4	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	8289	ARID1A	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	5977	DPF2	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6601	SMARCC2	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6605	SMARCE1	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6664	SOX11	ORPHA:1465
HP:0011024	Abnormality of the gastrointestinal tract	6609	SMPD1	ORPHA:77293
HP:0011024	Abnormality of the gastrointestinal tract	65998	ZFTA	ORPHA:251636
HP:0011024	Abnormality of the gastrointestinal tract	5970	RELA	ORPHA:251636
HP:0011024	Abnormality of the gastrointestinal tract	4665	NAB2	ORPHA:2126
HP:0011024	Abnormality of the gastrointestinal tract	6778	STAT6	ORPHA:2126
HP:0011024	Abnormality of the gastrointestinal tract	5978	REST	ORPHA:654
HP:0011024	Abnormality of the gastrointestinal tract	10155	TRIM28	ORPHA:654
HP:0011024	Abnormality of the gastrointestinal tract	11281	POU6F2	ORPHA:654
HP:0011024	Abnormality of the gastrointestinal tract	283120	H19	ORPHA:654
HP:0011024	Abnormality of the gastrointestinal tract	716	C1S	OMIM:617174
HP:0011024	Abnormality of the gastrointestinal tract	4913	NTHL1	ORPHA:454840
HP:0011024	Abnormality of the gastrointestinal tract	4913	NTHL1	OMIM:616415
HP:0011024	Abnormality of the gastrointestinal tract	8930	MBD4	OMIM:619975
HP:0011024	Abnormality of the gastrointestinal tract	4092	SMAD7	OMIM:612229
HP:0011024	Abnormality of the gastrointestinal tract	4595	MUTYH	OMIM:608456
HP:0011024	Abnormality of the gastrointestinal tract	6223	RPS19	OMIM:105650
HP:0011024	Abnormality of the gastrointestinal tract	4193	MDM2	ORPHA:524
HP:0011024	Abnormality of the gastrointestinal tract	9184	BUB3	ORPHA:1052
HP:0011024	Abnormality of the gastrointestinal tract	9702	CEP57	ORPHA:1052
HP:0011024	Abnormality of the gastrointestinal tract	9319	TRIP13	ORPHA:1052
HP:0011024	Abnormality of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0011024	Abnormality of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0011024	Abnormality of the gastrointestinal tract	2304	FOXE1	ORPHA:319487
HP:0011024	Abnormality of the gastrointestinal tract	3026	HABP2	ORPHA:319487
HP:0011024	Abnormality of the gastrointestinal tract	9562	MINPP1	ORPHA:319487
HP:0011024	Abnormality of the gastrointestinal tract	4437	MSH3	ORPHA:480536
HP:0011024	Abnormality of the gastrointestinal tract	1244	ABCC2	ORPHA:234
HP:0011024	Abnormality of the gastrointestinal tract	10225	CD96	ORPHA:1308
HP:0011024	Abnormality of the gastrointestinal tract	1308	COL17A1	ORPHA:79406
HP:0011024	Abnormality of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0011024	Abnormality of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0011024	Abnormality of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0011024	Abnormality of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0011024	Abnormality of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0011024	Abnormality of the gastrointestinal tract	58484	NLRC4	OMIM:616050
HP:0011024	Abnormality of the gastrointestinal tract	26873	OPLAH	OMIM:260005
HP:0011024	Abnormality of the gastrointestinal tract	10269	ZMPSTE24	ORPHA:1662
HP:0011024	Abnormality of the gastrointestinal tract	151648	SGO1	OMIM:616201
HP:0011024	Abnormality of the gastrointestinal tract	3423	IDS	OMIM:309900
HP:0011024	Abnormality of the gastrointestinal tract	205717	USF3	ORPHA:201
HP:0011024	Abnormality of the gastrointestinal tract	100144748	KLLN	ORPHA:201
HP:0011024	Abnormality of the gastrointestinal tract	64359	NXN	ORPHA:1507
HP:0011024	Abnormality of the gastrointestinal tract	4920	ROR2	ORPHA:1507
HP:0011024	Abnormality of the gastrointestinal tract	1175	AP2S1	OMIM:600740
HP:0011024	Abnormality of the gastrointestinal tract	2767	GNA11	OMIM:145981
HP:0011024	Abnormality of the gastrointestinal tract	2022	ENG	ORPHA:329971
HP:0011024	Abnormality of the gastrointestinal tract	2317	FLNB	ORPHA:1190
HP:0011024	Abnormality of the gastrointestinal tract	2475	MTOR	ORPHA:457485
HP:0011024	Abnormality of the gastrointestinal tract	5321	PLA2G4A	OMIM:618372
HP:0011024	Abnormality of the gastrointestinal tract	1024	CDK8	OMIM:618748
HP:0011024	Abnormality of the gastrointestinal tract	29940	DSE	ORPHA:2953
HP:0011024	Abnormality of the gastrointestinal tract	54361	WNT4	ORPHA:139466
HP:0011024	Abnormality of the gastrointestinal tract	10312	TCIRG1	ORPHA:486
HP:0011024	Abnormality of the gastrointestinal tract	1991	ELANE	ORPHA:486
HP:0011024	Abnormality of the gastrointestinal tract	2672	GFI1	ORPHA:486
HP:0011024	Abnormality of the gastrointestinal tract	6729	SRP54	ORPHA:486
HP:0011024	Abnormality of the gastrointestinal tract	81570	CLPB	ORPHA:486
HP:0011024	Abnormality of the gastrointestinal tract	25839	COG4	ORPHA:263501
HP:0011024	Abnormality of the gastrointestinal tract	25839	COG4	OMIM:613489
HP:0011024	Abnormality of the gastrointestinal tract	57379	AICDA	OMIM:605258
HP:0011024	Abnormality of the gastrointestinal tract	4792	NFKBIA	OMIM:612132
HP:0011024	Abnormality of the gastrointestinal tract	50615	IL21R	OMIM:615207
HP:0011024	Abnormality of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0011024	Abnormality of the gastrointestinal tract	3718	JAK3	ORPHA:35078
HP:0011024	Abnormality of the gastrointestinal tract	2321	FLT1	ORPHA:275555
HP:0011024	Abnormality of the gastrointestinal tract	219736	STOX1	ORPHA:275555
HP:0011024	Abnormality of the gastrointestinal tract	10699	CORIN	ORPHA:275555
HP:0011024	Abnormality of the gastrointestinal tract	488	ATP2A2	ORPHA:218
HP:0011024	Abnormality of the gastrointestinal tract	6905	TBCE	ORPHA:2323
HP:0011024	Abnormality of the gastrointestinal tract	5317	PKP1	ORPHA:158668
HP:0011024	Abnormality of the gastrointestinal tract	2694	CBLIF	OMIM:261000
HP:0011024	Abnormality of the gastrointestinal tract	3689	ITGB2	OMIM:116920
HP:0011024	Abnormality of the gastrointestinal tract	5880	RAC2	OMIM:608203
HP:0011024	Abnormality of the gastrointestinal tract	2161	F12	OMIM:610618
HP:0011024	Abnormality of the gastrointestinal tract	3514	IGKC	ORPHA:183675
HP:0011024	Abnormality of the gastrointestinal tract	3501	IGHG2	ORPHA:183675
HP:0011024	Abnormality of the gastrointestinal tract	4659	PPP1R12A	OMIM:618820
HP:0011024	Abnormality of the gastrointestinal tract	407975	MIR17HG	ORPHA:391646
HP:0011024	Abnormality of the gastrointestinal tract	8604	SLC25A12	OMIM:612949
HP:0011024	Abnormality of the gastrointestinal tract	8974	P4HA2	ORPHA:397
HP:0011024	Abnormality of the gastrointestinal tract	3593	IL12B	ORPHA:3287
HP:0011024	Abnormality of the gastrointestinal tract	6945	MLX	ORPHA:3287
HP:0011024	Abnormality of the gastrointestinal tract	567	B2M	ORPHA:314652
HP:0011024	Abnormality of the gastrointestinal tract	4927	NUP88	ORPHA:994
HP:0011024	Abnormality of the gastrointestinal tract	4654	MYOD1	ORPHA:994
HP:0011024	Abnormality of the gastrointestinal tract	5913	RAPSN	ORPHA:994
HP:0011024	Abnormality of the gastrointestinal tract	285489	DOK7	ORPHA:994
HP:0011024	Abnormality of the gastrointestinal tract	5424	POLD1	OMIM:612591
HP:0011024	Abnormality of the gastrointestinal tract	6714	SRC	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	10395	DLC1	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	11200	CHEK2	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	8313	AXIN2	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	5782	PTPN12	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	5320	PLA2G2A	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	6790	AURKA	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	1630	DCC	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	581	BAX	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	25788	RAD54B	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	595	CCND1	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	699	BUB1	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	701	BUB1B	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	7097	TLR2	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	4893	NRAS	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	7157	TP53	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	4163	MCC	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	207	AKT1	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	5157	PDGFRL	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	5795	PTPRJ	OMIM:114500
HP:0011024	Abnormality of the gastrointestinal tract	8314	BAP1	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	4286	MITF	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	1019	CDK4	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	4255	MGMT	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	54386	TERF2IP	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	4157	MC1R	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	1029	CDKN2A	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	25913	POT1	ORPHA:618
HP:0011024	Abnormality of the gastrointestinal tract	4089	SMAD4	OMIM:174900
HP:0011024	Abnormality of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0011024	Abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0011024	Abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0011024	Abnormality of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0011024	Abnormality of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0011024	Abnormality of the gastrointestinal tract	5573	PRKAR1A	ORPHA:1359
HP:0011024	Abnormality of the gastrointestinal tract	50940	PDE11A	ORPHA:1359
HP:0011024	Abnormality of the gastrointestinal tract	343641	TGM6	OMIM:613908
HP:0011024	Abnormality of the gastrointestinal tract	343641	TGM6	ORPHA:276193
HP:0011024	Abnormality of the gastrointestinal tract	5654	HTRA1	ORPHA:199354
HP:0011024	Abnormality of the gastrointestinal tract	5917	RARS1	OMIM:616140
HP:0011024	Abnormality of the gastrointestinal tract	5917	RARS1	ORPHA:438114
HP:0011024	Abnormality of the gastrointestinal tract	1593	CYP27A1	OMIM:213700
HP:0011024	Abnormality of the gastrointestinal tract	57679	ALS2	OMIM:606353
HP:0011024	Abnormality of the gastrointestinal tract	4001	LMNB1	OMIM:169500
HP:0011024	Abnormality of the gastrointestinal tract	2583	B4GALNT1	ORPHA:101006
HP:0011024	Abnormality of the gastrointestinal tract	23503	ZFYVE26	ORPHA:100996
HP:0011024	Abnormality of the gastrointestinal tract	60	ACTB	OMIM:607371
HP:0011024	Abnormality of the gastrointestinal tract	6647	SOD1	OMIM:105400
HP:0011024	Abnormality of the gastrointestinal tract	5630	PRPH	OMIM:105400
HP:0011024	Abnormality of the gastrointestinal tract	1639	DCTN1	OMIM:105400
HP:0011024	Abnormality of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0011024	Abnormality of the gastrointestinal tract	92579	G6PC3	OMIM:612541
HP:0011024	Abnormality of the gastrointestinal tract	22806	IKZF3	OMIM:619437
HP:0011024	Abnormality of the gastrointestinal tract	3588	IL10RB	OMIM:612567
HP:0011024	Abnormality of the gastrointestinal tract	29926	GMPPA	OMIM:615510
HP:0011024	Abnormality of the gastrointestinal tract	3655	ITGA6	OMIM:619817
HP:0011024	Abnormality of the gastrointestinal tract	65057	ACD	OMIM:616553
HP:0011024	Abnormality of the gastrointestinal tract	472	ATM	ORPHA:52416
HP:0011024	Abnormality of the gastrointestinal tract	3492	IGH	ORPHA:52416
HP:0011024	Abnormality of the gastrointestinal tract	5925	RB1	ORPHA:1587
HP:0011024	Abnormality of the gastrointestinal tract	6696	SPP1	ORPHA:93552
HP:0011024	Abnormality of the gastrointestinal tract	3654	IRAK1	ORPHA:93552
HP:0011024	Abnormality of the gastrointestinal tract	10195	ALG3	ORPHA:79321
HP:0011024	Abnormality of the gastrointestinal tract	2998	GYS2	ORPHA:2089
HP:0011024	Abnormality of the gastrointestinal tract	56244	BTNL2	ORPHA:797
HP:0011024	Abnormality of the gastrointestinal tract	29925	GMPPB	OMIM:615351
HP:0011024	Abnormality of the gastrointestinal tract	6049	RNF6	ORPHA:99977
HP:0011024	Abnormality of the gastrointestinal tract	6049	RNF6	OMIM:133239
HP:0011024	Abnormality of the gastrointestinal tract	9940	DLEC1	ORPHA:99977
HP:0011024	Abnormality of the gastrointestinal tract	11178	LZTS1	OMIM:133239
HP:0011024	Abnormality of the gastrointestinal tract	7482	WNT2B	OMIM:618168
HP:0011024	Abnormality of the gastrointestinal tract	3559	IL2RA	OMIM:606367
HP:0011024	Abnormality of the gastrointestinal tract	3767	KCNJ11	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	8462	KLF11	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	2645	GCK	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	26060	APPL1	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	640	BLK	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	1056	CEL	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	4760	NEUROD1	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	3651	PDX1	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	6833	ABCC8	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	5078	PAX4	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	3172	HNF4A	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	6927	HNF1A	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	6927	HNF1A	OMIM:142330
HP:0011024	Abnormality of the gastrointestinal tract	3630	INS	ORPHA:552
HP:0011024	Abnormality of the gastrointestinal tract	5257	PHKB	ORPHA:79240
HP:0011024	Abnormality of the gastrointestinal tract	5256	PHKA2	ORPHA:264580
HP:0011024	Abnormality of the gastrointestinal tract	5261	PHKG2	ORPHA:264580
HP:0011024	Abnormality of the gastrointestinal tract	3553	IL1B	OMIM:613659
HP:0011024	Abnormality of the gastrointestinal tract	3557	IL1RN	OMIM:613659
HP:0011024	Abnormality of the gastrointestinal tract	3659	IRF1	OMIM:613659
HP:0011024	Abnormality of the gastrointestinal tract	1316	KLF6	OMIM:613659
HP:0011024	Abnormality of the gastrointestinal tract	7373	COL14A1	ORPHA:79501
HP:0011024	Abnormality of the gastrointestinal tract	79719	AAGAB	ORPHA:79501
HP:0011024	Abnormality of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0011024	Abnormality of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0011024	Abnormality of the gastrointestinal tract	4621	MYH3	ORPHA:2990
HP:0011024	Abnormality of the gastrointestinal tract	1146	CHRNG	ORPHA:2990
HP:0011024	Abnormality of the gastrointestinal tract	55209	SETD5	ORPHA:404440
HP:0011024	Abnormality of the gastrointestinal tract	2668	GDNF	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	1889	ECE1	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	6720	SREBF1	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	223117	SEMA3D	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	10512	SEMA3C	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	2064	ERBB2	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	4902	NRTN	ORPHA:388
HP:0011024	Abnormality of the gastrointestinal tract	22854	NTNG1	ORPHA:3095
HP:0011024	Abnormality of the gastrointestinal tract	5604	MAP2K1	ORPHA:1340
HP:0011024	Abnormality of the gastrointestinal tract	7305	TYROBP	ORPHA:2770
HP:0011024	Abnormality of the gastrointestinal tract	54209	TREM2	ORPHA:2770
HP:0011024	Abnormality of the gastrointestinal tract	64682	ANAPC1	ORPHA:221008
HP:0011024	Abnormality of the gastrointestinal tract	9935	MAFB	ORPHA:233
HP:0011024	Abnormality of the gastrointestinal tract	1123	CHN1	ORPHA:233
HP:0011024	Abnormality of the gastrointestinal tract	1371	CPOX	ORPHA:79273
HP:0011024	Abnormality of the gastrointestinal tract	341640	FREM2	OMIM:617666
HP:0011024	Abnormality of the gastrointestinal tract	5889	RAD51C	OMIM:613390
HP:0011024	Abnormality of the gastrointestinal tract	57217	TTC7A	OMIM:243150
HP:0011024	Abnormality of the gastrointestinal tract	26123	TCTN3	ORPHA:2753
HP:0011024	Abnormality of the gastrointestinal tract	55593	OTUD5	OMIM:301056
HP:0011024	Abnormality of the gastrointestinal tract	3643	INSR	ORPHA:508
HP:0011024	Abnormality of the gastrointestinal tract	7276	TTR	ORPHA:85451
HP:0011024	Abnormality of the gastrointestinal tract	3938	LCT	OMIM:223000
HP:0011024	Abnormality of the gastrointestinal tract	4175	MCM6	OMIM:223100
HP:0011024	Abnormality of the gastrointestinal tract	5892	RAD51D	ORPHA:145
HP:0011024	Abnormality of the gastrointestinal tract	10111	RAD50	ORPHA:145
HP:0011024	Abnormality of the gastrointestinal tract	580	BARD1	ORPHA:145
HP:0011024	Abnormality of the gastrointestinal tract	4361	MRE11	ORPHA:145
HP:0011024	Abnormality of the gastrointestinal tract	56983	POGLUT1	ORPHA:79145
HP:0011024	Abnormality of the gastrointestinal tract	3852	KRT5	ORPHA:79145
HP:0011024	Abnormality of the gastrointestinal tract	23509	POFUT1	ORPHA:79145
HP:0011024	Abnormality of the gastrointestinal tract	55851	PSENEN	ORPHA:79145
HP:0011024	Abnormality of the gastrointestinal tract	79827	CLMP	OMIM:615237
HP:0011024	Abnormality of the gastrointestinal tract	55107	ANO1	OMIM:620045
HP:0011024	Abnormality of the gastrointestinal tract	72	ACTG2	OMIM:155310
HP:0011024	Abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309282
HP:0011024	Abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309288
HP:0011024	Abnormality of the gastrointestinal tract	65082	VPS33A	ORPHA:505248
HP:0011024	Abnormality of the gastrointestinal tract	64421	DCLRE1C	ORPHA:275
HP:0011024	Abnormality of the gastrointestinal tract	10379	IRF9	OMIM:618648
HP:0011024	Abnormality of the gastrointestinal tract	916	CD3E	OMIM:615615
HP:0011024	Abnormality of the gastrointestinal tract	3431	SP110	ORPHA:79124
HP:0011024	Abnormality of the gastrointestinal tract	55343	SLC35C1	ORPHA:99843
HP:0011024	Abnormality of the gastrointestinal tract	55768	NGLY1	OMIM:615273
HP:0011024	Abnormality of the gastrointestinal tract	55768	NGLY1	ORPHA:404454
HP:0011024	Abnormality of the gastrointestinal tract	3798	KIF5A	OMIM:617235
HP:0011024	Abnormality of the gastrointestinal tract	9373	PLAA	ORPHA:521426
HP:0011024	Abnormality of the gastrointestinal tract	5376	PMP22	ORPHA:98916
HP:0011024	Abnormality of the gastrointestinal tract	10755	GIPC1	ORPHA:98897
HP:0011024	Abnormality of the gastrointestinal tract	100996717	NOTCH2NLC	ORPHA:98897
HP:0011024	Abnormality of the gastrointestinal tract	7428	VHL	OMIM:193300
HP:0011024	Abnormality of the gastrointestinal tract	3716	JAK1	OMIM:618999
HP:0011024	Abnormality of the gastrointestinal tract	7128	TNFAIP3	OMIM:616744
HP:0011024	Abnormality of the gastrointestinal tract	4860	PNP	ORPHA:760
HP:0011024	Abnormality of the gastrointestinal tract	57192	MCOLN1	OMIM:252650
HP:0011024	Abnormality of the gastrointestinal tract	6868	ADAM17	OMIM:614328
HP:0011024	Abnormality of the gastrointestinal tract	8547	FCN3	OMIM:613860
HP:0011024	Abnormality of the gastrointestinal tract	6809	STX3	OMIM:619445
HP:0011024	Abnormality of the gastrointestinal tract	6135	RPL11	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6138	RPL15	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6229	RPS24	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6125	RPL5	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6204	RPS10	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6165	RPL35A	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6232	RPS27	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6231	RPS26	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	11224	RPL35	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6160	RPL31	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6218	RPS17	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6201	RPS7	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6155	RPL27	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6154	RPL26	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6210	RPS15A	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	90121	TSR2	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6141	RPL18	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6235	RPS29	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	6234	RPS28	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	51816	ADA2	ORPHA:124
HP:0011024	Abnormality of the gastrointestinal tract	5426	POLE	ORPHA:447877
HP:0011024	Abnormality of the gastrointestinal tract	161742	SPRED1	ORPHA:137605
HP:0011024	Abnormality of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0011024	Abnormality of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0011024	Abnormality of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0011024	Abnormality of the gastrointestinal tract	10747	MASP2	OMIM:613791
HP:0011024	Abnormality of the gastrointestinal tract	27178	IL37	OMIM:619398
HP:0011024	Abnormality of the gastrointestinal tract	84433	CARD11	OMIM:617638
HP:0011024	Abnormality of the gastrointestinal tract	5336	PLCG2	OMIM:614878
HP:0011024	Abnormality of the gastrointestinal tract	6850	SYK	OMIM:619381
HP:0011024	Abnormality of the gastrointestinal tract	29775	CARD10	OMIM:619632
HP:0011024	Abnormality of the gastrointestinal tract	60468	BACH2	OMIM:618394
HP:0011024	Abnormality of the gastrointestinal tract	55765	INAVA	OMIM:618077
HP:0011024	Abnormality of the gastrointestinal tract	9051	PSTPIP1	ORPHA:69126
HP:0011024	Abnormality of the gastrointestinal tract	96459	FNIP1	OMIM:619705
HP:0011024	Abnormality of the gastrointestinal tract	3587	IL10RA	OMIM:613148
HP:0011024	Abnormality of the gastrointestinal tract	2984	GUCY2C	OMIM:614616
HP:0011024	Abnormality of the gastrointestinal tract	5774	PTPN3	ORPHA:70567
HP:0011024	Abnormality of the gastrointestinal tract	410	ARSA	ORPHA:309271
HP:0011024	Abnormality of the gastrointestinal tract	2271	FH	ORPHA:523
HP:0011024	Abnormality of the gastrointestinal tract	1794	DOCK2	OMIM:616433
HP:0011024	Abnormality of the gastrointestinal tract	5966	REL	OMIM:619652
HP:0011024	Abnormality of the gastrointestinal tract	3376	IARS1	ORPHA:541423
HP:0011024	Abnormality of the gastrointestinal tract	10398	MYL9	OMIM:619365
HP:0011024	Abnormality of the gastrointestinal tract	54894	RNF43	ORPHA:157798
HP:0011024	Abnormality of the gastrointestinal tract	7486	WRN	ORPHA:902
HP:0011024	Abnormality of the gastrointestinal tract	64220	STRA6	ORPHA:2470
HP:0011024	Abnormality of the gastrointestinal tract	10483	SEC23B	OMIM:616858
HP:0011024	Abnormality of the gastrointestinal tract	9817	KEAP1	ORPHA:276399
HP:0011024	Abnormality of the gastrointestinal tract	23405	DICER1	ORPHA:276399
HP:0011024	Abnormality of the gastrointestinal tract	6515	SLC2A3	ORPHA:399
HP:0011024	Abnormality of the gastrointestinal tract	5393	EXOSC9	OMIM:618065
HP:0011024	Abnormality of the gastrointestinal tract	112	ADCY6	OMIM:616287
HP:0011024	Abnormality of the gastrointestinal tract	7314	UBB	ORPHA:99772
HP:0011024	Abnormality of the gastrointestinal tract	57822	GRHL3	ORPHA:99772
HP:0011024	Abnormality of the gastrointestinal tract	222663	SCUBE3	OMIM:619184
HP:0011024	Abnormality of the gastrointestinal tract	1739	DLG1	ORPHA:199306
HP:0011024	Abnormality of the gastrointestinal tract	652	BMP4	ORPHA:199306
HP:0011024	Abnormality of the gastrointestinal tract	9411	ARHGAP29	ORPHA:199306
HP:0011024	Abnormality of the gastrointestinal tract	1748	DLX4	ORPHA:199306
HP:0011024	Abnormality of the gastrointestinal tract	4088	SMAD3	OMIM:613795
HP:0011024	Abnormality of the gastrointestinal tract	7046	TGFBR1	OMIM:609192
HP:0011024	Abnormality of the gastrointestinal tract	81704	DOCK8	OMIM:243700
HP:0011024	Abnormality of the gastrointestinal tract	7042	TGFB2	OMIM:614816
HP:0011024	Abnormality of the gastrointestinal tract	55898	UNC45A	OMIM:619377
HP:0011024	Abnormality of the gastrointestinal tract	1777	DNASE2	OMIM:619858
HP:0011025	Abnormal cardiovascular system physiology	5551	PRF1	ORPHA:88
HP:0011025	Abnormal cardiovascular system physiology	51119	SBDS	ORPHA:88
HP:0011025	Abnormal cardiovascular system physiology	51726	DNAJB11	OMIM:618061
HP:0011025	Abnormal cardiovascular system physiology	51726	DNAJB11	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	10128	LRPPRC	OMIM:220111
HP:0011025	Abnormal cardiovascular system physiology	63036	CELA2A	OMIM:618620
HP:0011025	Abnormal cardiovascular system physiology	54507	ADAMTSL4	ORPHA:1885
HP:0011025	Abnormal cardiovascular system physiology	4010	LMX1B	ORPHA:2613
HP:0011025	Abnormal cardiovascular system physiology	57539	WDR35	OMIM:613610
HP:0011025	Abnormal cardiovascular system physiology	63924	CIDEC	OMIM:615238
HP:0011025	Abnormal cardiovascular system physiology	3291	HSD11B2	OMIM:218030
HP:0011025	Abnormal cardiovascular system physiology	3291	HSD11B2	ORPHA:320
HP:0011025	Abnormal cardiovascular system physiology	81839	VANGL1	ORPHA:3027
HP:0011025	Abnormal cardiovascular system physiology	80199	FUZ	ORPHA:3027
HP:0011025	Abnormal cardiovascular system physiology	2072	ERCC4	ORPHA:90321
HP:0011025	Abnormal cardiovascular system physiology	2072	ERCC4	OMIM:610965
HP:0011025	Abnormal cardiovascular system physiology	5447	POR	ORPHA:95699
HP:0011025	Abnormal cardiovascular system physiology	5447	POR	OMIM:201750
HP:0011025	Abnormal cardiovascular system physiology	23607	CD2AP	OMIM:607832
HP:0011025	Abnormal cardiovascular system physiology	3162	HMOX1	OMIM:614034
HP:0011025	Abnormal cardiovascular system physiology	4552	MTRR	ORPHA:2169
HP:0011025	Abnormal cardiovascular system physiology	50940	PDE11A	OMIM:610475
HP:0011025	Abnormal cardiovascular system physiology	50940	PDE11A	ORPHA:189439
HP:0011025	Abnormal cardiovascular system physiology	50940	PDE11A	ORPHA:1359
HP:0011025	Abnormal cardiovascular system physiology	23592	LEMD3	ORPHA:1879
HP:0011025	Abnormal cardiovascular system physiology	23592	LEMD3	ORPHA:1306
HP:0011025	Abnormal cardiovascular system physiology	1586	CYP17A1	ORPHA:90793
HP:0011025	Abnormal cardiovascular system physiology	1586	CYP17A1	OMIM:202110
HP:0011025	Abnormal cardiovascular system physiology	23193	GANAB	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	23193	GANAB	OMIM:600666
HP:0011025	Abnormal cardiovascular system physiology	5310	PKD1	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	5310	PKD1	OMIM:173900
HP:0011025	Abnormal cardiovascular system physiology	5311	PKD2	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	5311	PKD2	OMIM:613095
HP:0011025	Abnormal cardiovascular system physiology	29880	ALG5	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	29880	ALG5	OMIM:620056
HP:0011025	Abnormal cardiovascular system physiology	9742	IFT140	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	9742	IFT140	OMIM:266920
HP:0011025	Abnormal cardiovascular system physiology	80114	BICC1	ORPHA:730
HP:0011025	Abnormal cardiovascular system physiology	2263	FGFR2	ORPHA:87
HP:0011025	Abnormal cardiovascular system physiology	2263	FGFR2	OMIM:123790
HP:0011025	Abnormal cardiovascular system physiology	2263	FGFR2	ORPHA:1555
HP:0011025	Abnormal cardiovascular system physiology	3190	HNRNPK	OMIM:616580
HP:0011025	Abnormal cardiovascular system physiology	3766	KCNJ10	OMIM:612780
HP:0011025	Abnormal cardiovascular system physiology	3423	IDS	ORPHA:217085
HP:0011025	Abnormal cardiovascular system physiology	3423	IDS	ORPHA:217093
HP:0011025	Abnormal cardiovascular system physiology	2538	G6PC1	OMIM:232200
HP:0011025	Abnormal cardiovascular system physiology	6773	STAT2	OMIM:618886
HP:0011025	Abnormal cardiovascular system physiology	5468	PPARG	ORPHA:79083
HP:0011025	Abnormal cardiovascular system physiology	5468	PPARG	OMIM:604367
HP:0011025	Abnormal cardiovascular system physiology	9149	DYRK1B	OMIM:615812
HP:0011025	Abnormal cardiovascular system physiology	5346	PLIN1	OMIM:613877
HP:0011025	Abnormal cardiovascular system physiology	5346	PLIN1	ORPHA:280356
HP:0011025	Abnormal cardiovascular system physiology	79140	CCDC28B	OMIM:209900
HP:0011025	Abnormal cardiovascular system physiology	582	BBS1	OMIM:209900
HP:0011025	Abnormal cardiovascular system physiology	582	BBS1	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	7490	WT1	OMIM:194080
HP:0011025	Abnormal cardiovascular system physiology	7490	WT1	ORPHA:347
HP:0011025	Abnormal cardiovascular system physiology	7490	WT1	ORPHA:220
HP:0011025	Abnormal cardiovascular system physiology	7490	WT1	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	83550	GPR101	ORPHA:963
HP:0011025	Abnormal cardiovascular system physiology	9049	AIP	ORPHA:963
HP:0011025	Abnormal cardiovascular system physiology	9049	AIP	OMIM:102200
HP:0011025	Abnormal cardiovascular system physiology	9049	AIP	OMIM:219090
HP:0011025	Abnormal cardiovascular system physiology	2332	FMR1	ORPHA:93256
HP:0011025	Abnormal cardiovascular system physiology	2332	FMR1	ORPHA:449291
HP:0011025	Abnormal cardiovascular system physiology	4313	MMP2	ORPHA:371428
HP:0011025	Abnormal cardiovascular system physiology	4323	MMP14	ORPHA:371428
HP:0011025	Abnormal cardiovascular system physiology	5139	PDE3A	OMIM:112410
HP:0011025	Abnormal cardiovascular system physiology	5139	PDE3A	ORPHA:1276
HP:0011025	Abnormal cardiovascular system physiology	1717	DHCR7	OMIM:270400
HP:0011025	Abnormal cardiovascular system physiology	54968	TMEM70	OMIM:614052
HP:0011025	Abnormal cardiovascular system physiology	9860	LRIG2	ORPHA:2704
HP:0011025	Abnormal cardiovascular system physiology	60495	HPSE2	ORPHA:2704
HP:0011025	Abnormal cardiovascular system physiology	84984	CEP19	OMIM:615703
HP:0011025	Abnormal cardiovascular system physiology	84984	CEP19	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	4582	MUC1	OMIM:174000
HP:0011025	Abnormal cardiovascular system physiology	4069	LYZ	OMIM:105200
HP:0011025	Abnormal cardiovascular system physiology	335	APOA1	OMIM:105200
HP:0011025	Abnormal cardiovascular system physiology	567	B2M	OMIM:105200
HP:0011025	Abnormal cardiovascular system physiology	2057	EPOR	OMIM:133100
HP:0011025	Abnormal cardiovascular system physiology	92482	BBIP1	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	80184	CEP290	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	80184	CEP290	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	11020	IFT27	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	49855	SCAPER	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	4867	NPHP1	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	4867	NPHP1	OMIM:256100
HP:0011025	Abnormal cardiovascular system physiology	4867	NPHP1	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	51057	WDPCP	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	27241	BBS9	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	22954	TRIM32	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	54903	MKS1	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	79738	BBS10	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	123016	TTC8	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	26160	IFT172	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	583	BBS2	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	585	BBS4	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	8195	MKKS	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	54585	LZTFL1	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	55212	BBS7	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	166379	BBS12	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	10806	SDCCAG8	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	10806	SDCCAG8	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	157657	CFAP418	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	129880	BBS5	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	80173	IFT74	ORPHA:110
HP:0011025	Abnormal cardiovascular system physiology	7809	BSND	ORPHA:89938
HP:0011025	Abnormal cardiovascular system physiology	1187	CLCNKA	ORPHA:89938
HP:0011025	Abnormal cardiovascular system physiology	5566	PRKACA	OMIM:615830
HP:0011025	Abnormal cardiovascular system physiology	5566	PRKACA	ORPHA:189439
HP:0011025	Abnormal cardiovascular system physiology	8622	PDE8B	ORPHA:189439
HP:0011025	Abnormal cardiovascular system physiology	79798	ARMC5	OMIM:615954
HP:0011025	Abnormal cardiovascular system physiology	79798	ARMC5	ORPHA:189427
HP:0011025	Abnormal cardiovascular system physiology	8364	H4C3	OMIM:619758
HP:0011025	Abnormal cardiovascular system physiology	7486	WRN	ORPHA:902
HP:0011025	Abnormal cardiovascular system physiology	4556	MT-TE	ORPHA:225
HP:0011025	Abnormal cardiovascular system physiology	4040	LRP6	OMIM:610947
HP:0011025	Abnormal cardiovascular system physiology	5244	ABCB4	ORPHA:69663
HP:0011025	Abnormal cardiovascular system physiology	4982	TNFRSF11B	ORPHA:2801
HP:0011025	Abnormal cardiovascular system physiology	8792	TNFRSF11A	ORPHA:2801
HP:0011025	Abnormal cardiovascular system physiology	2778	GNAS	ORPHA:189427
HP:0011025	Abnormal cardiovascular system physiology	2778	GNAS	ORPHA:79443
HP:0011025	Abnormal cardiovascular system physiology	2778	GNAS	OMIM:219080
HP:0011025	Abnormal cardiovascular system physiology	8481	OFD1	OMIM:311200
HP:0011025	Abnormal cardiovascular system physiology	8481	OFD1	ORPHA:2750
HP:0011025	Abnormal cardiovascular system physiology	866	SERPINA6	OMIM:611489
HP:0011025	Abnormal cardiovascular system physiology	10253	SPRY2	OMIM:616818
HP:0011025	Abnormal cardiovascular system physiology	4091	SMAD6	ORPHA:402075
HP:0011025	Abnormal cardiovascular system physiology	4205	MEF2A	OMIM:608320
HP:0011025	Abnormal cardiovascular system physiology	38	ACAT1	ORPHA:134
HP:0011025	Abnormal cardiovascular system physiology	7355	SLC35A2	OMIM:300896
HP:0011025	Abnormal cardiovascular system physiology	4193	MDM2	OMIM:618681
HP:0011025	Abnormal cardiovascular system physiology	10463	SLC30A9	OMIM:617595
HP:0011025	Abnormal cardiovascular system physiology	50628	GEMIN4	OMIM:617913
HP:0011025	Abnormal cardiovascular system physiology	3081	HGD	ORPHA:56
HP:0011025	Abnormal cardiovascular system physiology	3991	LIPE	OMIM:615980
HP:0011025	Abnormal cardiovascular system physiology	667	DST	OMIM:614653
HP:0011025	Abnormal cardiovascular system physiology	51134	CEP83	OMIM:615862
HP:0011025	Abnormal cardiovascular system physiology	5076	PAX2	ORPHA:97362
HP:0011025	Abnormal cardiovascular system physiology	5076	PAX2	OMIM:120330
HP:0011025	Abnormal cardiovascular system physiology	5087	PBX1	ORPHA:97362
HP:0011025	Abnormal cardiovascular system physiology	286053	NSMCE2	OMIM:617253
HP:0011025	Abnormal cardiovascular system physiology	4160	MC4R	ORPHA:71529
HP:0011025	Abnormal cardiovascular system physiology	100151683	RNU4ATAC	OMIM:210710
HP:0011025	Abnormal cardiovascular system physiology	629	CFB	OMIM:612924
HP:0011025	Abnormal cardiovascular system physiology	10058	ABCB6	ORPHA:90044
HP:0011025	Abnormal cardiovascular system physiology	718	C3	OMIM:612925
HP:0011025	Abnormal cardiovascular system physiology	91147	TMEM67	OMIM:216360
HP:0011025	Abnormal cardiovascular system physiology	91147	TMEM67	ORPHA:84081
HP:0011025	Abnormal cardiovascular system physiology	26580	BSCL2	ORPHA:363400
HP:0011025	Abnormal cardiovascular system physiology	10229	COQ7	OMIM:616733
HP:0011025	Abnormal cardiovascular system physiology	137682	NDUFAF6	OMIM:618913
HP:0011025	Abnormal cardiovascular system physiology	8912	CACNA1H	OMIM:617027
HP:0011025	Abnormal cardiovascular system physiology	1287	COL4A5	OMIM:301050
HP:0011025	Abnormal cardiovascular system physiology	5978	REST	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	129563	DIS3L2	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	675	BRCA2	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	9319	TRIP13	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	10155	TRIM28	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	11281	POU6F2	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	283120	H19	ORPHA:654
HP:0011025	Abnormal cardiovascular system physiology	1956	EGFR	OMIM:616069
HP:0011025	Abnormal cardiovascular system physiology	64423	INF2	OMIM:613237
HP:0011025	Abnormal cardiovascular system physiology	4306	NR3C2	OMIM:605115
HP:0011025	Abnormal cardiovascular system physiology	5498	PPOX	ORPHA:79473
HP:0011025	Abnormal cardiovascular system physiology	55644	OSGEP	OMIM:617729
HP:0011025	Abnormal cardiovascular system physiology	2328	FMO3	OMIM:602079
HP:0011025	Abnormal cardiovascular system physiology	1589	CYP21A2	OMIM:201910
HP:0011025	Abnormal cardiovascular system physiology	7225	TRPC6	OMIM:603965
HP:0011025	Abnormal cardiovascular system physiology	57545	CC2D2A	OMIM:619111
HP:0011025	Abnormal cardiovascular system physiology	2643	GCH1	ORPHA:98808
HP:0011025	Abnormal cardiovascular system physiology	4929	NR4A2	ORPHA:98808
HP:0011025	Abnormal cardiovascular system physiology	3615	IMPDH2	ORPHA:98808
HP:0011025	Abnormal cardiovascular system physiology	1285	COL4A3	OMIM:203780
HP:0011025	Abnormal cardiovascular system physiology	1285	COL4A3	OMIM:104200
HP:0011025	Abnormal cardiovascular system physiology	1286	COL4A4	OMIM:203780
HP:0011025	Abnormal cardiovascular system physiology	54796	BNC2	ORPHA:93110
HP:0011025	Abnormal cardiovascular system physiology	2335	FN1	ORPHA:84090
HP:0011025	Abnormal cardiovascular system physiology	2335	FN1	OMIM:601894
HP:0011025	Abnormal cardiovascular system physiology	79783	SUGCT	OMIM:231690
HP:0011025	Abnormal cardiovascular system physiology	2132	EXT2	ORPHA:52022
HP:0011025	Abnormal cardiovascular system physiology	60529	ALX4	ORPHA:52022
HP:0011025	Abnormal cardiovascular system physiology	51317	PHF21A	ORPHA:52022
HP:0011025	Abnormal cardiovascular system physiology	81	ACTN4	OMIM:603278
HP:0011025	Abnormal cardiovascular system physiology	51360	MBTPS2	OMIM:308205
HP:0011025	Abnormal cardiovascular system physiology	60401	EDA2R	ORPHA:181
HP:0011025	Abnormal cardiovascular system physiology	1896	EDA	ORPHA:181
HP:0011025	Abnormal cardiovascular system physiology	51473	DCDC2	ORPHA:84081
HP:0011025	Abnormal cardiovascular system physiology	3145	HMBS	OMIM:176000
HP:0011025	Abnormal cardiovascular system physiology	3145	HMBS	ORPHA:79276
HP:0011025	Abnormal cardiovascular system physiology	5456	POU3F4	ORPHA:1435
HP:0011025	Abnormal cardiovascular system physiology	63929	XPNPEP3	OMIM:613159
HP:0011025	Abnormal cardiovascular system physiology	1371	CPOX	OMIM:121300
HP:0011025	Abnormal cardiovascular system physiology	65266	WNK4	OMIM:614491
HP:0011025	Abnormal cardiovascular system physiology	65125	WNK1	OMIM:614492
HP:0011025	Abnormal cardiovascular system physiology	8516	ITGA8	OMIM:191830
HP:0011025	Abnormal cardiovascular system physiology	23404	EXOSC2	OMIM:617763
HP:0011025	Abnormal cardiovascular system physiology	26249	KLHL3	OMIM:614495
HP:0011025	Abnormal cardiovascular system physiology	8452	CUL3	OMIM:614496
HP:0011025	Abnormal cardiovascular system physiology	9935	MAFB	OMIM:166300
HP:0011025	Abnormal cardiovascular system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	9657	IQCB1	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	261734	NPHP4	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	57728	WDR19	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	27031	NPHP3	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	22897	CEP164	ORPHA:3156
HP:0011025	Abnormal cardiovascular system physiology	10660	LBX1	OMIM:619483
HP:0011025	Abnormal cardiovascular system physiology	1534	CYB561	OMIM:618182
HP:0011025	Abnormal cardiovascular system physiology	8518	ELP1	OMIM:223900
HP:0011025	Abnormal cardiovascular system physiology	8518	ELP1	ORPHA:1764
HP:0011025	Abnormal cardiovascular system physiology	6622	SNCA	OMIM:605543
HP:0011025	Abnormal cardiovascular system physiology	1136	CHRNA3	OMIM:191800
HP:0011025	Abnormal cardiovascular system physiology	29926	GMPPA	OMIM:615510
HP:0011025	Abnormal cardiovascular system physiology	1585	CYP11B2	OMIM:610600
HP:0011025	Abnormal cardiovascular system physiology	1585	CYP11B2	ORPHA:556030
HP:0011025	Abnormal cardiovascular system physiology	538	ATP7A	OMIM:304150
HP:0011025	Abnormal cardiovascular system physiology	27235	COQ2	OMIM:146500
HP:0011025	Abnormal cardiovascular system physiology	8086	AAAS	OMIM:231550
HP:0011025	Abnormal cardiovascular system physiology	2632	GBE1	OMIM:263570
HP:0011025	Abnormal cardiovascular system physiology	857	CAV1	OMIM:606721
HP:0011025	Abnormal cardiovascular system physiology	3594	IL12RB1	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	23534	TNPO3	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	3592	IL12A	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	6689	SPIB	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	5450	POU2AF1	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	9966	TNFSF15	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	79258	MMEL1	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	3663	IRF5	ORPHA:186
HP:0011025	Abnormal cardiovascular system physiology	3074	HEXB	OMIM:268800
HP:0011025	Abnormal cardiovascular system physiology	51142	CHCHD2	OMIM:616710
HP:0011025	Abnormal cardiovascular system physiology	80208	SPG11	ORPHA:2822
HP:0011025	Abnormal cardiovascular system physiology	4001	LMNB1	ORPHA:99027
HP:0011025	Abnormal cardiovascular system physiology	7066	THPO	ORPHA:71493
HP:0011025	Abnormal cardiovascular system physiology	253017	TECRL	OMIM:614021
HP:0011025	Abnormal cardiovascular system physiology	253017	TECRL	ORPHA:3286
HP:0011025	Abnormal cardiovascular system physiology	5663	PSEN1	OMIM:613694
HP:0011025	Abnormal cardiovascular system physiology	5664	PSEN2	OMIM:613697
HP:0011025	Abnormal cardiovascular system physiology	6833	ABCC8	ORPHA:276575
HP:0011025	Abnormal cardiovascular system physiology	100996717	NOTCH2NLC	OMIM:603472
HP:0011025	Abnormal cardiovascular system physiology	3767	KCNJ11	ORPHA:276580
HP:0011025	Abnormal cardiovascular system physiology	79572	ATP13A3	OMIM:265400
HP:0011025	Abnormal cardiovascular system physiology	7134	TNNC1	OMIM:613243
HP:0011025	Abnormal cardiovascular system physiology	1832	DSP	OMIM:615821
HP:0011025	Abnormal cardiovascular system physiology	9152	SLC6A5	OMIM:614618
HP:0011025	Abnormal cardiovascular system physiology	7092	TLL1	ORPHA:99106
HP:0011025	Abnormal cardiovascular system physiology	7092	TLL1	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	1482	NKX2-5	ORPHA:871
HP:0011025	Abnormal cardiovascular system physiology	1482	NKX2-5	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	57057	TBX20	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	4624	MYH6	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	10370	CITED2	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	2626	GATA4	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	2627	GATA6	ORPHA:99103
HP:0011025	Abnormal cardiovascular system physiology	4607	MYBPC3	OMIM:115197
HP:0011025	Abnormal cardiovascular system physiology	4607	MYBPC3	OMIM:615396
HP:0011025	Abnormal cardiovascular system physiology	8314	BAP1	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	4771	NF2	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	6598	SMARCB1	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	5155	PDGFB	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	84231	TRAF7	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	6608	SMO	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	207	AKT1	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	7015	TERT	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	51684	SUFU	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	6605	SMARCE1	ORPHA:2495
HP:0011025	Abnormal cardiovascular system physiology	84665	MYPN	ORPHA:75249
HP:0011025	Abnormal cardiovascular system physiology	2318	FLNC	ORPHA:75249
HP:0011025	Abnormal cardiovascular system physiology	7139	TNNT2	ORPHA:75249
HP:0011025	Abnormal cardiovascular system physiology	7137	TNNI3	ORPHA:75249
HP:0011025	Abnormal cardiovascular system physiology	10112	KIF20A	ORPHA:75249
HP:0011025	Abnormal cardiovascular system physiology	11149	BVES	OMIM:616812
HP:0011025	Abnormal cardiovascular system physiology	1512	CTSH	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	5032	P2RY11	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	4340	MOG	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	3119	HLA-DQB1	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	3060	HCRT	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	22891	ZNF365	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	7292	TNFSF4	ORPHA:2073
HP:0011025	Abnormal cardiovascular system physiology	3920	LAMP2	OMIM:300257
HP:0011025	Abnormal cardiovascular system physiology	51778	MYOZ2	OMIM:613838
HP:0011025	Abnormal cardiovascular system physiology	4914	NTRK1	ORPHA:642
HP:0011025	Abnormal cardiovascular system physiology	6927	HNF1A	ORPHA:324575
HP:0011025	Abnormal cardiovascular system physiology	776	CACNA1D	OMIM:614896
HP:0011025	Abnormal cardiovascular system physiology	144245	ALG10B	OMIM:613688
HP:0011025	Abnormal cardiovascular system physiology	7351	UCP2	ORPHA:276556
HP:0011025	Abnormal cardiovascular system physiology	11235	PDCD10	OMIM:603285
HP:0011025	Abnormal cardiovascular system physiology	11235	PDCD10	ORPHA:221061
HP:0011025	Abnormal cardiovascular system physiology	83605	CCM2	OMIM:603284
HP:0011025	Abnormal cardiovascular system physiology	83605	CCM2	ORPHA:221061
HP:0011025	Abnormal cardiovascular system physiology	11274	USP18	OMIM:617397
HP:0011025	Abnormal cardiovascular system physiology	727676	SNORD118	ORPHA:542310
HP:0011025	Abnormal cardiovascular system physiology	55532	SLC30A10	ORPHA:309854
HP:0011025	Abnormal cardiovascular system physiology	72	ACTG2	OMIM:619431
HP:0011025	Abnormal cardiovascular system physiology	9414	TJP2	OMIM:615878
HP:0011025	Abnormal cardiovascular system physiology	10056	FARSB	OMIM:613658
HP:0011025	Abnormal cardiovascular system physiology	197131	UBR1	OMIM:243800
HP:0011025	Abnormal cardiovascular system physiology	83737	ITCH	OMIM:613385
HP:0011025	Abnormal cardiovascular system physiology	83737	ITCH	ORPHA:228426
HP:0011025	Abnormal cardiovascular system physiology	1716	DGUOK	OMIM:617068
HP:0011025	Abnormal cardiovascular system physiology	1716	DGUOK	OMIM:251880
HP:0011025	Abnormal cardiovascular system physiology	50674	NEUROG3	ORPHA:83620
HP:0011025	Abnormal cardiovascular system physiology	84936	ZFYVE19	OMIM:619849
HP:0011025	Abnormal cardiovascular system physiology	169792	GLIS3	OMIM:610199
HP:0011025	Abnormal cardiovascular system physiology	23729	SHPK	ORPHA:440713
HP:0011025	Abnormal cardiovascular system physiology	9076	CLDN1	ORPHA:59303
HP:0011025	Abnormal cardiovascular system physiology	9076	CLDN1	OMIM:607626
HP:0011025	Abnormal cardiovascular system physiology	6663	SOX10	OMIM:609136
HP:0011025	Abnormal cardiovascular system physiology	2859	GPR35	ORPHA:171
HP:0011025	Abnormal cardiovascular system physiology	10507	SEMA4D	ORPHA:171
HP:0011025	Abnormal cardiovascular system physiology	4485	MST1	ORPHA:171
HP:0011025	Abnormal cardiovascular system physiology	6925	TCF4	ORPHA:171
HP:0011025	Abnormal cardiovascular system physiology	3988	LIPA	OMIM:278000
HP:0011025	Abnormal cardiovascular system physiology	5825	ABCD3	OMIM:616278
HP:0011025	Abnormal cardiovascular system physiology	93183	PIGM	OMIM:610293
HP:0011025	Abnormal cardiovascular system physiology	55340	GIMAP5	OMIM:619463
HP:0011025	Abnormal cardiovascular system physiology	113220	KIF12	OMIM:619662
HP:0011025	Abnormal cardiovascular system physiology	7289	TULP3	OMIM:619902
HP:0011025	Abnormal cardiovascular system physiology	56623	INPP5E	ORPHA:1454
HP:0011025	Abnormal cardiovascular system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0011025	Abnormal cardiovascular system physiology	4591	TRIM37	OMIM:253250
HP:0011025	Abnormal cardiovascular system physiology	3039	HBA1	ORPHA:163596
HP:0011025	Abnormal cardiovascular system physiology	3040	HBA2	ORPHA:163596
HP:0011025	Abnormal cardiovascular system physiology	111	ADCY5	OMIM:606703
HP:0011025	Abnormal cardiovascular system physiology	111	ADCY5	ORPHA:324588
HP:0011025	Abnormal cardiovascular system physiology	1356	CP	ORPHA:48818
HP:0011025	Abnormal cardiovascular system physiology	3178	HNRNPA1	ORPHA:52430
HP:0011025	Abnormal cardiovascular system physiology	7415	VCP	ORPHA:52430
HP:0011025	Abnormal cardiovascular system physiology	3181	HNRNPA2B1	ORPHA:52430
HP:0011025	Abnormal cardiovascular system physiology	57724	EPG5	OMIM:242840
HP:0011025	Abnormal cardiovascular system physiology	57817	HAMP	OMIM:613313
HP:0011025	Abnormal cardiovascular system physiology	6314	ATXN7	ORPHA:94147
HP:0011025	Abnormal cardiovascular system physiology	81570	CLPB	OMIM:616271
HP:0011025	Abnormal cardiovascular system physiology	2245	FGD1	ORPHA:915
HP:0011025	Abnormal cardiovascular system physiology	91949	COG7	OMIM:608779
HP:0011025	Abnormal cardiovascular system physiology	7167	TPI1	OMIM:615512
HP:0011025	Abnormal cardiovascular system physiology	92335	STRADA	ORPHA:500533
HP:0011025	Abnormal cardiovascular system physiology	6442	SGCA	OMIM:608099
HP:0011025	Abnormal cardiovascular system physiology	9342	SNAP29	ORPHA:66631
HP:0011025	Abnormal cardiovascular system physiology	7019	TFAM	OMIM:617156
HP:0011025	Abnormal cardiovascular system physiology	9325	TRIP4	OMIM:616866
HP:0011025	Abnormal cardiovascular system physiology	4547	MTTP	ORPHA:14
HP:0011025	Abnormal cardiovascular system physiology	51241	COX16	OMIM:619355
HP:0011025	Abnormal cardiovascular system physiology	60528	ELAC2	OMIM:615440
HP:0011025	Abnormal cardiovascular system physiology	4976	OPA1	OMIM:616896
HP:0011025	Abnormal cardiovascular system physiology	7018	TF	OMIM:209300
HP:0011025	Abnormal cardiovascular system physiology	26503	SLC17A5	OMIM:269920
HP:0011025	Abnormal cardiovascular system physiology	10555	AGPAT2	ORPHA:528
HP:0011025	Abnormal cardiovascular system physiology	2353	FOS	ORPHA:528
HP:0011025	Abnormal cardiovascular system physiology	115286	SLC25A26	OMIM:616794
HP:0011025	Abnormal cardiovascular system physiology	203068	TUBB	ORPHA:2505
HP:0011025	Abnormal cardiovascular system physiology	10982	MAPRE2	ORPHA:2505
HP:0011025	Abnormal cardiovascular system physiology	8036	SHOC2	OMIM:607721
HP:0011025	Abnormal cardiovascular system physiology	8036	SHOC2	ORPHA:2701
HP:0011025	Abnormal cardiovascular system physiology	6909	TBX2	OMIM:618223
HP:0011025	Abnormal cardiovascular system physiology	91754	NEK9	OMIM:614262
HP:0011025	Abnormal cardiovascular system physiology	6016	RIT1	OMIM:615355
HP:0011025	Abnormal cardiovascular system physiology	132	ADK	OMIM:614300
HP:0011025	Abnormal cardiovascular system physiology	6885	MAP3K7	OMIM:617137
HP:0011025	Abnormal cardiovascular system physiology	84282	RNF135	ORPHA:137634
HP:0011025	Abnormal cardiovascular system physiology	145173	B3GLCT	ORPHA:709
HP:0011025	Abnormal cardiovascular system physiology	145173	B3GLCT	OMIM:261540
HP:0011025	Abnormal cardiovascular system physiology	64220	STRA6	OMIM:601186
HP:0011025	Abnormal cardiovascular system physiology	10093	ARPC4	OMIM:620141
HP:0011025	Abnormal cardiovascular system physiology	23291	FBXW11	OMIM:618914
HP:0011025	Abnormal cardiovascular system physiology	4893	NRAS	OMIM:613224
HP:0011025	Abnormal cardiovascular system physiology	998	CDC42	OMIM:616737
HP:0011025	Abnormal cardiovascular system physiology	80055	PGAP1	OMIM:615802
HP:0011025	Abnormal cardiovascular system physiology	3097	HIVEP2	OMIM:616977
HP:0011025	Abnormal cardiovascular system physiology	9126	SMC3	OMIM:610759
HP:0011025	Abnormal cardiovascular system physiology	1757	SARDH	ORPHA:3129
HP:0011025	Abnormal cardiovascular system physiology	9378	NRXN1	OMIM:614325
HP:0011025	Abnormal cardiovascular system physiology	5604	MAP2K1	ORPHA:1340
HP:0011025	Abnormal cardiovascular system physiology	5604	MAP2K1	OMIM:615279
HP:0011025	Abnormal cardiovascular system physiology	5604	MAP2K1	OMIM:163950
HP:0011025	Abnormal cardiovascular system physiology	5605	MAP2K2	ORPHA:1340
HP:0011025	Abnormal cardiovascular system physiology	5605	MAP2K2	OMIM:615280
HP:0011025	Abnormal cardiovascular system physiology	5605	MAP2K2	ORPHA:638
HP:0011025	Abnormal cardiovascular system physiology	6597	SMARCA4	OMIM:614609
HP:0011025	Abnormal cardiovascular system physiology	22808	MRAS	OMIM:618499
HP:0011025	Abnormal cardiovascular system physiology	5718	PSMD12	ORPHA:529962
HP:0011025	Abnormal cardiovascular system physiology	2186	BPTF	ORPHA:529962
HP:0011025	Abnormal cardiovascular system physiology	7403	KDM6A	OMIM:300867
HP:0011025	Abnormal cardiovascular system physiology	23152	CIC	OMIM:617600
HP:0011025	Abnormal cardiovascular system physiology	93627	TBCK	ORPHA:488632
HP:0011025	Abnormal cardiovascular system physiology	55636	CHD7	OMIM:214800
HP:0011025	Abnormal cardiovascular system physiology	200734	SPRED2	OMIM:619745
HP:0011025	Abnormal cardiovascular system physiology	2324	FLT4	OMIM:618780
HP:0011025	Abnormal cardiovascular system physiology	3490	IGFBP7	OMIM:614224
HP:0011025	Abnormal cardiovascular system physiology	51715	RAB23	OMIM:201000
HP:0011025	Abnormal cardiovascular system physiology	90416	CCDC32	OMIM:619123
HP:0011025	Abnormal cardiovascular system physiology	79633	FAT4	ORPHA:314679
HP:0011025	Abnormal cardiovascular system physiology	8642	DCHS1	ORPHA:314679
HP:0011025	Abnormal cardiovascular system physiology	11128	POLR3A	ORPHA:3455
HP:0011025	Abnormal cardiovascular system physiology	11107	PRDM5	ORPHA:90354
HP:0011025	Abnormal cardiovascular system physiology	84627	ZNF469	ORPHA:90354
HP:0011025	Abnormal cardiovascular system physiology	51322	WAC	ORPHA:284169
HP:0011025	Abnormal cardiovascular system physiology	84905	ZNF341	OMIM:618282
HP:0011025	Abnormal cardiovascular system physiology	9652	SKIC3	OMIM:222470
HP:0011025	Abnormal cardiovascular system physiology	7994	KAT6A	OMIM:616268
HP:0011025	Abnormal cardiovascular system physiology	1107	CHD3	OMIM:618205
HP:0011025	Abnormal cardiovascular system physiology	701	BUB1B	OMIM:257300
HP:0011025	Abnormal cardiovascular system physiology	3756	KCNH1	OMIM:611816
HP:0011025	Abnormal cardiovascular system physiology	27161	AGO2	OMIM:619149
HP:0011025	Abnormal cardiovascular system physiology	54361	WNT4	ORPHA:139466
HP:0011025	Abnormal cardiovascular system physiology	6155	RPL27	OMIM:617408
HP:0011025	Abnormal cardiovascular system physiology	6655	SOS2	OMIM:616559
HP:0011025	Abnormal cardiovascular system physiology	100128908	CIROP	OMIM:619702
HP:0011025	Abnormal cardiovascular system physiology	1828	DSG1	OMIM:615508
HP:0011025	Abnormal cardiovascular system physiology	6654	SOS1	OMIM:610733
HP:0011025	Abnormal cardiovascular system physiology	4038	LRP4	OMIM:212780
HP:0011025	Abnormal cardiovascular system physiology	27034	ACAD8	ORPHA:79159
HP:0011025	Abnormal cardiovascular system physiology	1374	CPT1A	ORPHA:156
HP:0011025	Abnormal cardiovascular system physiology	27068	PPA2	OMIM:617222
HP:0011025	Abnormal cardiovascular system physiology	131118	DNAJC19	OMIM:610198
HP:0011025	Abnormal cardiovascular system physiology	26154	ABCA12	ORPHA:457
HP:0011025	Abnormal cardiovascular system physiology	23529	CLCF1	ORPHA:1545
HP:0011025	Abnormal cardiovascular system physiology	9244	CRLF1	ORPHA:1545
HP:0011025	Abnormal cardiovascular system physiology	28976	ACAD9	ORPHA:99901
HP:0011025	Abnormal cardiovascular system physiology	2203	FBP1	ORPHA:348
HP:0011025	Abnormal cardiovascular system physiology	2203	FBP1	OMIM:229700
HP:0011025	Abnormal cardiovascular system physiology	745	MYRF	OMIM:618280
HP:0011025	Abnormal cardiovascular system physiology	8029	CUBN	ORPHA:35858
HP:0011025	Abnormal cardiovascular system physiology	81693	AMN	ORPHA:35858
HP:0011025	Abnormal cardiovascular system physiology	1439	CSF2RB	ORPHA:264675
HP:0011025	Abnormal cardiovascular system physiology	1438	CSF2RA	ORPHA:264675
HP:0011025	Abnormal cardiovascular system physiology	55739	NAXD	OMIM:618321
HP:0011025	Abnormal cardiovascular system physiology	9692	PRORP	OMIM:619737
HP:0011025	Abnormal cardiovascular system physiology	5837	PYGM	ORPHA:368
HP:0011025	Abnormal cardiovascular system physiology	3172	HNF4A	ORPHA:263455
HP:0011025	Abnormal cardiovascular system physiology	7253	TSHR	OMIM:609152
HP:0011025	Abnormal cardiovascular system physiology	7253	TSHR	OMIM:603373
HP:0011025	Abnormal cardiovascular system physiology	6736	SRY	ORPHA:1772
HP:0011025	Abnormal cardiovascular system physiology	8942	KYNU	ORPHA:79155
HP:0011025	Abnormal cardiovascular system physiology	6006	RHCE	ORPHA:71275
HP:0011025	Abnormal cardiovascular system physiology	6007	RHD	ORPHA:71275
HP:0011025	Abnormal cardiovascular system physiology	11285	B4GALT7	ORPHA:75496
HP:0011025	Abnormal cardiovascular system physiology	10682	EBP	ORPHA:401973
HP:0011025	Abnormal cardiovascular system physiology	10682	EBP	OMIM:300960
HP:0011025	Abnormal cardiovascular system physiology	1859	DYRK1A	ORPHA:268261
HP:0011025	Abnormal cardiovascular system physiology	1859	DYRK1A	ORPHA:464311
HP:0011025	Abnormal cardiovascular system physiology	6873	TAF2	OMIM:615599
HP:0011025	Abnormal cardiovascular system physiology	79753	SNIP1	OMIM:614501
HP:0011025	Abnormal cardiovascular system physiology	79813	EHMT1	ORPHA:96147
HP:0011025	Abnormal cardiovascular system physiology	23586	RIGI	OMIM:616298
HP:0011025	Abnormal cardiovascular system physiology	9897	WASHC5	OMIM:220210
HP:0011025	Abnormal cardiovascular system physiology	9897	WASHC5	ORPHA:7
HP:0011025	Abnormal cardiovascular system physiology	84572	GNPTG	OMIM:252605
HP:0011025	Abnormal cardiovascular system physiology	153642	ARSK	OMIM:619698
HP:0011025	Abnormal cardiovascular system physiology	4053	LTBP2	ORPHA:3449
HP:0011025	Abnormal cardiovascular system physiology	4053	LTBP2	OMIM:614819
HP:0011025	Abnormal cardiovascular system physiology	81794	ADAMTS10	ORPHA:3449
HP:0011025	Abnormal cardiovascular system physiology	81794	ADAMTS10	OMIM:277600
HP:0011025	Abnormal cardiovascular system physiology	284086	NEK8	OMIM:615415
HP:0011025	Abnormal cardiovascular system physiology	28952	CCDC22	ORPHA:7
HP:0011025	Abnormal cardiovascular system physiology	203286	ANKS6	OMIM:615382
HP:0011025	Abnormal cardiovascular system physiology	54538	ROBO4	OMIM:618496
HP:0011025	Abnormal cardiovascular system physiology	2720	GLB1	OMIM:253010
HP:0011025	Abnormal cardiovascular system physiology	139285	AMER1	ORPHA:2780
HP:0011025	Abnormal cardiovascular system physiology	2313	FLI1	ORPHA:2308
HP:0011025	Abnormal cardiovascular system physiology	1801	DPH1	ORPHA:459061
HP:0011025	Abnormal cardiovascular system physiology	894	CCND2	ORPHA:83473
HP:0011025	Abnormal cardiovascular system physiology	5296	PIK3R2	ORPHA:83473
HP:0011025	Abnormal cardiovascular system physiology	5296	PIK3R2	OMIM:603387
HP:0011025	Abnormal cardiovascular system physiology	10000	AKT3	ORPHA:83473
HP:0011025	Abnormal cardiovascular system physiology	79912	PYROXD1	OMIM:617258
HP:0011025	Abnormal cardiovascular system physiology	2201	FBN2	OMIM:121050
HP:0011025	Abnormal cardiovascular system physiology	10216	PRG4	ORPHA:2848
HP:0011025	Abnormal cardiovascular system physiology	6660	SOX5	ORPHA:313892
HP:0011025	Abnormal cardiovascular system physiology	6197	RPS6KA3	OMIM:303600
HP:0011025	Abnormal cardiovascular system physiology	29940	DSE	OMIM:615539
HP:0011025	Abnormal cardiovascular system physiology	79576	NKAP	OMIM:301039
HP:0011025	Abnormal cardiovascular system physiology	175	AGA	OMIM:208400
HP:0011025	Abnormal cardiovascular system physiology	6125	RPL5	OMIM:612561
HP:0011025	Abnormal cardiovascular system physiology	10290	SPEG	OMIM:615959
HP:0011025	Abnormal cardiovascular system physiology	29123	ANKRD11	ORPHA:261250
HP:0011025	Abnormal cardiovascular system physiology	2799	GNS	OMIM:252940
HP:0011025	Abnormal cardiovascular system physiology	126792	B3GALT6	OMIM:271640
HP:0011025	Abnormal cardiovascular system physiology	89970	RSPRY1	ORPHA:457395
HP:0011025	Abnormal cardiovascular system physiology	22873	DZIP1	OMIM:610840
HP:0011025	Abnormal cardiovascular system physiology	84188	FAR1	ORPHA:447753
HP:0011025	Abnormal cardiovascular system physiology	6497	SKI	ORPHA:2462
HP:0011025	Abnormal cardiovascular system physiology	4054	LTBP3	OMIM:617809
HP:0011025	Abnormal cardiovascular system physiology	6584	SLC22A5	OMIM:212140
HP:0011025	Abnormal cardiovascular system physiology	6535	SLC6A8	OMIM:300352
HP:0011025	Abnormal cardiovascular system physiology	29925	GMPPB	OMIM:615351
HP:0011025	Abnormal cardiovascular system physiology	8675	STX16	ORPHA:94089
HP:0011025	Abnormal cardiovascular system physiology	3033	HADH	ORPHA:71212
HP:0011025	Abnormal cardiovascular system physiology	1080	CFTR	ORPHA:60033
HP:0011025	Abnormal cardiovascular system physiology	590	BCHE	ORPHA:132
HP:0011025	Abnormal cardiovascular system physiology	4627	MYH9	OMIM:155100
HP:0011025	Abnormal cardiovascular system physiology	4627	MYH9	ORPHA:182050
HP:0011025	Abnormal cardiovascular system physiology	57187	THOC2	ORPHA:457240
HP:0011025	Abnormal cardiovascular system physiology	4023	LPL	OMIM:144250
HP:0011025	Abnormal cardiovascular system physiology	375	ARF1	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	4131	MAP1B	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	23327	NEDD4L	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	160418	TMTC3	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	10564	ARFGEF2	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	55780	ERMARD	ORPHA:98892
HP:0011025	Abnormal cardiovascular system physiology	26128	KIFBP	OMIM:609460
HP:0011025	Abnormal cardiovascular system physiology	23334	SZT2	OMIM:615476
HP:0011025	Abnormal cardiovascular system physiology	5832	ALDH18A1	OMIM:616603
HP:0011025	Abnormal cardiovascular system physiology	5832	ALDH18A1	ORPHA:90348
HP:0011025	Abnormal cardiovascular system physiology	55027	HEATR3	OMIM:620072
HP:0011025	Abnormal cardiovascular system physiology	4125	MAN2B1	ORPHA:309282
HP:0011025	Abnormal cardiovascular system physiology	4125	MAN2B1	ORPHA:309288
HP:0011025	Abnormal cardiovascular system physiology	728294	D2HGDH	OMIM:600721
HP:0011025	Abnormal cardiovascular system physiology	613	BCR	ORPHA:261330
HP:0011025	Abnormal cardiovascular system physiology	1399	CRKL	ORPHA:261330
HP:0011025	Abnormal cardiovascular system physiology	5594	MAPK1	ORPHA:261330
HP:0011025	Abnormal cardiovascular system physiology	9702	CEP57	OMIM:614114
HP:0011025	Abnormal cardiovascular system physiology	9702	CEP57	ORPHA:1052
HP:0011025	Abnormal cardiovascular system physiology	113246	C12orf57	OMIM:218340
HP:0011025	Abnormal cardiovascular system physiology	7703	PCGF2	OMIM:618371
HP:0011025	Abnormal cardiovascular system physiology	9184	BUB3	ORPHA:1052
HP:0011025	Abnormal cardiovascular system physiology	699	BUB1	ORPHA:1052
HP:0011025	Abnormal cardiovascular system physiology	2703	GJA8	OMIM:612474
HP:0011025	Abnormal cardiovascular system physiology	79875	THSD4	OMIM:619825
HP:0011025	Abnormal cardiovascular system physiology	6499	SKIC2	ORPHA:84064
HP:0011025	Abnormal cardiovascular system physiology	8022	LHX3	ORPHA:226307
HP:0011025	Abnormal cardiovascular system physiology	25821	MTO1	OMIM:614702
HP:0011025	Abnormal cardiovascular system physiology	3909	LAMA3	ORPHA:79404
HP:0011025	Abnormal cardiovascular system physiology	3918	LAMC2	ORPHA:79404
HP:0011025	Abnormal cardiovascular system physiology	3914	LAMB3	ORPHA:79404
HP:0011025	Abnormal cardiovascular system physiology	7849	PAX8	OMIM:218700
HP:0011025	Abnormal cardiovascular system physiology	6341	SCO1	OMIM:619048
HP:0011025	Abnormal cardiovascular system physiology	7252	TSHB	ORPHA:90674
HP:0011025	Abnormal cardiovascular system physiology	95	ACY1	OMIM:609924
HP:0011025	Abnormal cardiovascular system physiology	405753	DUOXA2	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	6528	SLC5A5	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	7038	TG	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	7173	TPO	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	389434	IYD	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	50506	DUOX2	ORPHA:95716
HP:0011025	Abnormal cardiovascular system physiology	22845	DOLK	OMIM:610768
HP:0011025	Abnormal cardiovascular system physiology	1892	ECHS1	OMIM:616277
HP:0011025	Abnormal cardiovascular system physiology	132158	GLYCTK	OMIM:220120
HP:0011025	Abnormal cardiovascular system physiology	51117	COQ4	OMIM:616276
HP:0011025	Abnormal cardiovascular system physiology	57017	COQ9	OMIM:614654
HP:0011025	Abnormal cardiovascular system physiology	27429	HTRA2	OMIM:617248
HP:0011025	Abnormal cardiovascular system physiology	221927	BRAT1	OMIM:614498
HP:0011025	Abnormal cardiovascular system physiology	2752	GLUL	OMIM:610015
HP:0011025	Abnormal cardiovascular system physiology	2879	GPX4	ORPHA:93317
HP:0011025	Abnormal cardiovascular system physiology	3990	LIPC	OMIM:614025
HP:0011025	Abnormal cardiovascular system physiology	3990	LIPC	ORPHA:140905
HP:0011025	Abnormal cardiovascular system physiology	1593	CYP27A1	OMIM:213700
HP:0011025	Abnormal cardiovascular system physiology	19	ABCA1	ORPHA:425
HP:0011025	Abnormal cardiovascular system physiology	3931	LCAT	ORPHA:79292
HP:0011025	Abnormal cardiovascular system physiology	283446	MYO1H	OMIM:619482
HP:0011025	Abnormal cardiovascular system physiology	84340	GFM2	OMIM:618397
HP:0011025	Abnormal cardiovascular system physiology	7259	TSPYL1	ORPHA:168593
HP:0011025	Abnormal cardiovascular system physiology	9997	SCO2	OMIM:604377
HP:0011025	Abnormal cardiovascular system physiology	3155	HMGCL	ORPHA:20
HP:0011025	Abnormal cardiovascular system physiology	1861	TOR1A	OMIM:618947
HP:0011025	Abnormal cardiovascular system physiology	708	C1QBP	OMIM:617713
HP:0011025	Abnormal cardiovascular system physiology	54675	CRLS1	OMIM:620167
HP:0011025	Abnormal cardiovascular system physiology	4695	NDUFA2	OMIM:618235
HP:0011025	Abnormal cardiovascular system physiology	6182	MRPL12	OMIM:618951
HP:0011025	Abnormal cardiovascular system physiology	25782	RAB3GAP2	OMIM:212720
HP:0011025	Abnormal cardiovascular system physiology	4920	ROR2	OMIM:268310
HP:0011025	Abnormal cardiovascular system physiology	7474	WNT5A	OMIM:180700
HP:0011025	Abnormal cardiovascular system physiology	1855	DVL1	OMIM:180700
HP:0011025	Abnormal cardiovascular system physiology	57190	SELENON	ORPHA:324604
HP:0011025	Abnormal cardiovascular system physiology	2902	GRIN1	OMIM:619814
HP:0011025	Abnormal cardiovascular system physiology	5593	PRKG2	OMIM:619636
HP:0011025	Abnormal cardiovascular system physiology	4509	MT-ATP8	ORPHA:480
HP:0011025	Abnormal cardiovascular system physiology	5781	PTPN11	OMIM:151100
HP:0011025	Abnormal cardiovascular system physiology	4511	MT-TC	OMIM:540000
HP:0011025	Abnormal cardiovascular system physiology	4566	MT-TK	OMIM:540000
HP:0011025	Abnormal cardiovascular system physiology	4577	MT-TV	OMIM:540000
HP:0011025	Abnormal cardiovascular system physiology	51103	NDUFAF1	OMIM:618234
HP:0011025	Abnormal cardiovascular system physiology	63931	MRPS14	OMIM:618378
HP:0011025	Abnormal cardiovascular system physiology	3714	JAG2	OMIM:619566
HP:0011025	Abnormal cardiovascular system physiology	96459	FNIP1	OMIM:619705
HP:0011025	Abnormal cardiovascular system physiology	123263	MTFMT	OMIM:614947
HP:0011025	Abnormal cardiovascular system physiology	8557	TCAP	OMIM:607487
HP:0011025	Abnormal cardiovascular system physiology	84705	GTPBP3	ORPHA:444013
HP:0011025	Abnormal cardiovascular system physiology	7547	ZIC3	OMIM:306955
HP:0011025	Abnormal cardiovascular system physiology	7707	ZNF148	OMIM:617260
HP:0011025	Abnormal cardiovascular system physiology	23498	HAAO	OMIM:617660
HP:0011025	Abnormal cardiovascular system physiology	8216	LZTR1	OMIM:616564
HP:0011025	Abnormal cardiovascular system physiology	8216	LZTR1	OMIM:605275
HP:0011025	Abnormal cardiovascular system physiology	127833	SYT2	OMIM:619461
HP:0011025	Abnormal cardiovascular system physiology	2697	GJA1	ORPHA:2248
HP:0011025	Abnormal cardiovascular system physiology	55784	MCTP2	ORPHA:1596
HP:0011025	Abnormal cardiovascular system physiology	4853	NOTCH2	ORPHA:955
HP:0011025	Abnormal cardiovascular system physiology	2050	EPHB4	ORPHA:137667
HP:0011025	Abnormal cardiovascular system physiology	6335	SCN9A	OMIM:133020
HP:0011025	Abnormal cardiovascular system physiology	2642	GCGR	OMIM:619290
HP:0011025	Abnormal cardiovascular system physiology	4634	MYL3	OMIM:608751
HP:0011025	Abnormal cardiovascular system physiology	84133	ZNRF3	ORPHA:1501
HP:0011025	Abnormal cardiovascular system physiology	5573	PRKAR1A	ORPHA:1501
HP:0011025	Abnormal cardiovascular system physiology	1029	CDKN2A	ORPHA:1501
HP:0011025	Abnormal cardiovascular system physiology	55863	TMEM126B	OMIM:618250
HP:0011025	Abnormal cardiovascular system physiology	7528	YY1	ORPHA:97279
HP:0011025	Abnormal cardiovascular system physiology	595	CCND1	ORPHA:892
HP:0011025	Abnormal cardiovascular system physiology	23479	ISCU	OMIM:255125
HP:0011025	Abnormal cardiovascular system physiology	4702	NDUFA8	OMIM:619272
HP:0011025	Abnormal cardiovascular system physiology	2294	FOXF1	OMIM:265380
HP:0011025	Abnormal cardiovascular system physiology	2294	FOXF1	ORPHA:210122
HP:0011025	Abnormal cardiovascular system physiology	4558	MT-TF	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4572	MT-TQ	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4513	MT-CO2	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4578	MT-TW	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4567	MT-TL1	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4574	MT-TS1	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4575	MT-TS2	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	4564	MT-TH	ORPHA:550
HP:0011025	Abnormal cardiovascular system physiology	79717	PPCS	OMIM:618189
HP:0011025	Abnormal cardiovascular system physiology	498	ATP5F1A	OMIM:616045
HP:0011025	Abnormal cardiovascular system physiology	81857	MED25	OMIM:616449
HP:0011025	Abnormal cardiovascular system physiology	81857	MED25	ORPHA:464738
HP:0011025	Abnormal cardiovascular system physiology	3875	KRT18	OMIM:215600
HP:0011025	Abnormal cardiovascular system physiology	8854	ALDH1A2	OMIM:620025
HP:0011025	Abnormal cardiovascular system physiology	1235	CCR6	ORPHA:220402
HP:0011025	Abnormal cardiovascular system physiology	1235	CCR6	ORPHA:220393
HP:0011025	Abnormal cardiovascular system physiology	79932	KIAA0319L	ORPHA:220402
HP:0011025	Abnormal cardiovascular system physiology	1490	CCN2	ORPHA:220402
HP:0011025	Abnormal cardiovascular system physiology	1490	CCN2	ORPHA:220393
HP:0011025	Abnormal cardiovascular system physiology	411	ARSB	OMIM:253200
HP:0011025	Abnormal cardiovascular system physiology	10312	TCIRG1	ORPHA:667
HP:0011025	Abnormal cardiovascular system physiology	1186	CLCN7	ORPHA:667
HP:0011025	Abnormal cardiovascular system physiology	29887	SNX10	ORPHA:667
HP:0011025	Abnormal cardiovascular system physiology	8600	TNFSF11	ORPHA:667
HP:0011025	Abnormal cardiovascular system physiology	27125	AFF4	ORPHA:444077
HP:0011025	Abnormal cardiovascular system physiology	4784	NFIX	ORPHA:447980
HP:0011025	Abnormal cardiovascular system physiology	4784	NFIX	OMIM:602535
HP:0011025	Abnormal cardiovascular system physiology	1349	COX7B	OMIM:300887
HP:0011025	Abnormal cardiovascular system physiology	23395	LARS2	OMIM:617021
HP:0011025	Abnormal cardiovascular system physiology	6440	SFTPC	OMIM:178500
HP:0011025	Abnormal cardiovascular system physiology	6440	SFTPC	OMIM:610913
HP:0011025	Abnormal cardiovascular system physiology	727897	MUC5B	OMIM:178500
HP:0011025	Abnormal cardiovascular system physiology	729238	SFTPA2	OMIM:178500
HP:0011025	Abnormal cardiovascular system physiology	51601	LIPT1	OMIM:616299
HP:0011025	Abnormal cardiovascular system physiology	3908	LAMA2	ORPHA:258
HP:0011025	Abnormal cardiovascular system physiology	9382	COG1	ORPHA:263508
HP:0011025	Abnormal cardiovascular system physiology	6439	SFTPB	OMIM:265120
HP:0011025	Abnormal cardiovascular system physiology	6439	SFTPB	ORPHA:217563
HP:0011025	Abnormal cardiovascular system physiology	1340	COX6B1	OMIM:619051
HP:0011025	Abnormal cardiovascular system physiology	65082	VPS33A	ORPHA:505248
HP:0011025	Abnormal cardiovascular system physiology	1351	COX8A	OMIM:619059
HP:0011025	Abnormal cardiovascular system physiology	50619	DEF6	OMIM:619573
HP:0011025	Abnormal cardiovascular system physiology	9469	CHST3	OMIM:143095
HP:0011025	Abnormal cardiovascular system physiology	92579	G6PC3	OMIM:612541
HP:0011025	Abnormal cardiovascular system physiology	7080	NKX2-1	ORPHA:209905
HP:0011025	Abnormal cardiovascular system physiology	55750	AGK	OMIM:212350
HP:0011025	Abnormal cardiovascular system physiology	9377	COX5A	OMIM:619064
HP:0011025	Abnormal cardiovascular system physiology	9496	TBX4	ORPHA:261279
HP:0011025	Abnormal cardiovascular system physiology	3977	LIFR	OMIM:601559
HP:0011025	Abnormal cardiovascular system physiology	659	BMPR2	OMIM:178600
HP:0011025	Abnormal cardiovascular system physiology	659	BMPR2	OMIM:265450
HP:0011025	Abnormal cardiovascular system physiology	5826	ABCD4	OMIM:614857
HP:0011025	Abnormal cardiovascular system physiology	3425	IDUA	OMIM:607015
HP:0011025	Abnormal cardiovascular system physiology	760	CA2	ORPHA:2785
HP:0011025	Abnormal cardiovascular system physiology	3572	IL6ST	OMIM:619751
HP:0011025	Abnormal cardiovascular system physiology	2261	FGFR3	OMIM:616482
HP:0011025	Abnormal cardiovascular system physiology	29957	SLC25A24	OMIM:612289
HP:0011025	Abnormal cardiovascular system physiology	8085	KMT2D	OMIM:620186
HP:0011025	Abnormal cardiovascular system physiology	8517	IKBKG	ORPHA:464
HP:0011025	Abnormal cardiovascular system physiology	23556	PIGN	ORPHA:280633
HP:0011025	Abnormal cardiovascular system physiology	3043	HBB	ORPHA:231222
HP:0011025	Abnormal cardiovascular system physiology	4716	NDUFB10	OMIM:619003
HP:0011025	Abnormal cardiovascular system physiology	2629	GBA1	OMIM:230800
HP:0011025	Abnormal cardiovascular system physiology	2629	GBA1	ORPHA:2072
HP:0011025	Abnormal cardiovascular system physiology	2629	GBA1	ORPHA:77261
HP:0011025	Abnormal cardiovascular system physiology	2629	GBA1	ORPHA:77259
HP:0011025	Abnormal cardiovascular system physiology	374879	ZNF699	OMIM:619488
HP:0011025	Abnormal cardiovascular system physiology	27086	FOXP1	ORPHA:391372
HP:0011025	Abnormal cardiovascular system physiology	4256	MGP	ORPHA:85202
HP:0011025	Abnormal cardiovascular system physiology	8292	COLQ	ORPHA:98915
HP:0011025	Abnormal cardiovascular system physiology	3913	LAMB2	ORPHA:98915
HP:0011025	Abnormal cardiovascular system physiology	388015	RTL1	ORPHA:96334
HP:0011025	Abnormal cardiovascular system physiology	8788	DLK1	ORPHA:96334
HP:0011025	Abnormal cardiovascular system physiology	55384	MEG3	ORPHA:96334
HP:0011025	Abnormal cardiovascular system physiology	10551	AGR2	OMIM:620233
HP:0011025	Abnormal cardiovascular system physiology	6123	RPL3L	OMIM:619371
HP:0011025	Abnormal cardiovascular system physiology	8815	BANF1	OMIM:614008
HP:0011025	Abnormal cardiovascular system physiology	5557	PRIM1	OMIM:620005
HP:0011025	Abnormal cardiovascular system physiology	3593	IL12B	ORPHA:3287
HP:0011025	Abnormal cardiovascular system physiology	6945	MLX	ORPHA:3287
HP:0011025	Abnormal cardiovascular system physiology	64127	NOD2	ORPHA:90340
HP:0011025	Abnormal cardiovascular system physiology	3339	HSPG2	ORPHA:800
HP:0011025	Abnormal cardiovascular system physiology	2542	SLC37A4	OMIM:232240
HP:0011025	Abnormal cardiovascular system physiology	27247	NFU1	OMIM:605711
HP:0011025	Abnormal cardiovascular system physiology	8295	TRRAP	OMIM:618454
HP:0011025	Abnormal cardiovascular system physiology	93233	ODAD1	OMIM:615067
HP:0011025	Abnormal cardiovascular system physiology	4093	SMAD9	OMIM:615342
HP:0011025	Abnormal cardiovascular system physiology	51025	PAM16	OMIM:613320
HP:0011025	Abnormal cardiovascular system physiology	2316	FLNA	OMIM:309350
HP:0011025	Abnormal cardiovascular system physiology	23590	PDSS1	OMIM:614651
HP:0011025	Abnormal cardiovascular system physiology	7319	UBE2A	ORPHA:163956
HP:0011025	Abnormal cardiovascular system physiology	54938	SARS2	OMIM:613845
HP:0011025	Abnormal cardiovascular system physiology	389827	MYMK	OMIM:254940
HP:0011025	Abnormal cardiovascular system physiology	950	SCARB2	ORPHA:77259
HP:0011025	Abnormal cardiovascular system physiology	2658	GDF2	ORPHA:774
HP:0011025	Abnormal cardiovascular system physiology	2548	GAA	OMIM:232300
HP:0011025	Abnormal cardiovascular system physiology	5921	RASA1	ORPHA:90307
HP:0011025	Abnormal cardiovascular system physiology	2159	F10	ORPHA:328
HP:0011025	Abnormal cardiovascular system physiology	351	APP	OMIM:605714
HP:0011025	Abnormal cardiovascular system physiology	81704	DOCK8	OMIM:243700
HP:0011025	Abnormal cardiovascular system physiology	6786	STIM1	OMIM:185070
HP:0011025	Abnormal cardiovascular system physiology	55901	THSD1	OMIM:618734
HP:0011025	Abnormal cardiovascular system physiology	55901	THSD1	ORPHA:231160
HP:0011025	Abnormal cardiovascular system physiology	2811	GP1BA	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	2812	GP1BB	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	3674	ITGA2B	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	3673	ITGA2	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	135228	CD109	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	3690	ITGB3	ORPHA:853
HP:0011025	Abnormal cardiovascular system physiology	7049	TGFBR3	ORPHA:231160
HP:0011025	Abnormal cardiovascular system physiology	83854	ANGPTL6	ORPHA:231160
HP:0011025	Abnormal cardiovascular system physiology	94	ACVRL1	OMIM:600376
HP:0011025	Abnormal cardiovascular system physiology	4854	NOTCH3	ORPHA:136
HP:0011025	Abnormal cardiovascular system physiology	51816	ADA2	OMIM:182410
HP:0011025	Abnormal cardiovascular system physiology	2022	ENG	OMIM:187300
HP:0011025	Abnormal cardiovascular system physiology	81031	SLC2A10	OMIM:208050
HP:0011025	Abnormal cardiovascular system physiology	6651	SON	ORPHA:500150
HP:0011025	Abnormal cardiovascular system physiology	2982	GUCY1A1	OMIM:615750
HP:0011025	Abnormal cardiovascular system physiology	3717	JAK2	OMIM:614521
HP:0011025	Abnormal cardiovascular system physiology	50485	SMARCAL1	ORPHA:1830
HP:0011025	Abnormal cardiovascular system physiology	6331	SCN5A	ORPHA:1344
HP:0011025	Abnormal cardiovascular system physiology	4878	NPPA	ORPHA:1344
HP:0011025	Abnormal cardiovascular system physiology	2783	GNB2	OMIM:619503
HP:0011025	Abnormal cardiovascular system physiology	79184	BRCC3	ORPHA:280679
HP:0011025	Abnormal cardiovascular system physiology	1282	COL4A1	OMIM:175780
HP:0011025	Abnormal cardiovascular system physiology	4629	MYH11	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	7046	TGFBR1	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	7048	TGFBR2	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4015	LOX	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4087	SMAD2	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	7043	TGFB3	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4088	SMAD3	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	7042	TGFB2	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4089	SMAD4	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	2200	FBN1	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	59	ACTA2	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	5592	PRKG1	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	2301	FOXE3	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4144	MAT2A	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	23493	HEY2	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	8076	MFAP5	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	4638	MYLK	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	2006	ELN	ORPHA:91387
HP:0011025	Abnormal cardiovascular system physiology	1471	CST3	OMIM:105150
HP:0011025	Abnormal cardiovascular system physiology	1798	DPAGT1	ORPHA:86309
HP:0011025	Abnormal cardiovascular system physiology	54809	SAMD9	OMIM:617053
HP:0011025	Abnormal cardiovascular system physiology	65062	TMEM237	OMIM:614424
HP:0011025	Abnormal cardiovascular system physiology	2624	GATA2	ORPHA:3226
HP:0011025	Abnormal cardiovascular system physiology	249	ALPL	OMIM:241500
HP:0011025	Abnormal cardiovascular system physiology	1584	CYP11B1	ORPHA:90795
HP:0011025	Abnormal cardiovascular system physiology	1584	CYP11B1	ORPHA:403
HP:0011025	Abnormal cardiovascular system physiology	5373	PMM2	ORPHA:79318
HP:0011025	Abnormal cardiovascular system physiology	889	KRIT1	OMIM:116860
HP:0011025	Abnormal cardiovascular system physiology	1284	COL4A2	OMIM:614483
HP:0011025	Abnormal cardiovascular system physiology	340665	CYP26C1	ORPHA:398189
HP:0011025	Abnormal cardiovascular system physiology	1181	CLCN2	ORPHA:404
HP:0011025	Abnormal cardiovascular system physiology	25942	SIN3A	OMIM:613406
HP:0011025	Abnormal cardiovascular system physiology	6005	RHAG	OMIM:185000
HP:0011025	Abnormal cardiovascular system physiology	2162	F13A1	OMIM:188050
HP:0011025	Abnormal cardiovascular system physiology	3026	HABP2	OMIM:188050
HP:0011025	Abnormal cardiovascular system physiology	4524	MTHFR	OMIM:188050
HP:0011025	Abnormal cardiovascular system physiology	7056	THBD	OMIM:614486
HP:0011025	Abnormal cardiovascular system physiology	25974	MMACHC	ORPHA:79282
HP:0011025	Abnormal cardiovascular system physiology	5627	PROS1	ORPHA:743
HP:0011025	Abnormal cardiovascular system physiology	5627	PROS1	OMIM:614514
HP:0011025	Abnormal cardiovascular system physiology	5627	PROS1	OMIM:612336
HP:0011025	Abnormal cardiovascular system physiology	5277	PIGA	ORPHA:447
HP:0011025	Abnormal cardiovascular system physiology	5354	PLP1	ORPHA:99015
HP:0011025	Abnormal cardiovascular system physiology	1604	CD55	OMIM:226300
HP:0011025	Abnormal cardiovascular system physiology	171023	ASXL1	ORPHA:98850
HP:0011025	Abnormal cardiovascular system physiology	867	CBL	ORPHA:98850
HP:0011025	Abnormal cardiovascular system physiology	861	RUNX1	ORPHA:98850
HP:0011025	Abnormal cardiovascular system physiology	6427	SRSF2	ORPHA:98850
HP:0011025	Abnormal cardiovascular system physiology	875	CBS	ORPHA:394
HP:0011025	Abnormal cardiovascular system physiology	2815	GP9	ORPHA:274
HP:0011025	Abnormal cardiovascular system physiology	2815	GP9	OMIM:231200
HP:0011025	Abnormal cardiovascular system physiology	229	ALDOB	OMIM:229600
HP:0011025	Abnormal cardiovascular system physiology	7148	TNXB	ORPHA:230839
HP:0011025	Abnormal cardiovascular system physiology	80270	HSD3B7	ORPHA:79301
HP:0011025	Abnormal cardiovascular system physiology	4072	EPCAM	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	4292	MLH1	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	5395	PMS2	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	27030	MLH3	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	22909	FAN1	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	3845	KRAS	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	5290	PIK3CA	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	2956	MSH6	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	5378	PMS1	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	4436	MSH2	ORPHA:144
HP:0011025	Abnormal cardiovascular system physiology	2158	F9	OMIM:306900
HP:0011025	Abnormal cardiovascular system physiology	4609	MYC	ORPHA:543
HP:0011025	Abnormal cardiovascular system physiology	64218	SEMA4A	ORPHA:440437
HP:0011025	Abnormal cardiovascular system physiology	657	BMPR1A	ORPHA:440437
HP:0011025	Abnormal cardiovascular system physiology	657	BMPR1A	ORPHA:79076
HP:0011025	Abnormal cardiovascular system physiology	6224	RPS20	ORPHA:440437
HP:0011025	Abnormal cardiovascular system physiology	843	CASP10	OMIM:603909
HP:0011025	Abnormal cardiovascular system physiology	7248	TSC1	ORPHA:538
HP:0011025	Abnormal cardiovascular system physiology	7249	TSC2	ORPHA:538
HP:0011025	Abnormal cardiovascular system physiology	3106	HLA-B	ORPHA:36426
HP:0011025	Abnormal cardiovascular system physiology	3106	HLA-B	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	10320	IKZF1	ORPHA:36426
HP:0011025	Abnormal cardiovascular system physiology	3930	LBR	OMIM:613471
HP:0011025	Abnormal cardiovascular system physiology	7132	TNFRSF1A	OMIM:142680
HP:0011025	Abnormal cardiovascular system physiology	55109	AGGF1	ORPHA:90308
HP:0011025	Abnormal cardiovascular system physiology	2160	F11	ORPHA:329
HP:0011025	Abnormal cardiovascular system physiology	9103	FCGR2C	ORPHA:3002
HP:0011025	Abnormal cardiovascular system physiology	1312	COMT	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	221037	JMJD1C	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	6239	RREB1	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	6899	TBX1	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	7290	HIRA	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	9632	SEC24C	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	7353	UFD1	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	421	ARVCF	ORPHA:567
HP:0011025	Abnormal cardiovascular system physiology	3248	HPGD	ORPHA:2796
HP:0011025	Abnormal cardiovascular system physiology	6578	SLCO2A1	ORPHA:2796
HP:0011025	Abnormal cardiovascular system physiology	2155	F7	ORPHA:327
HP:0011025	Abnormal cardiovascular system physiology	2153	F5	ORPHA:326
HP:0011025	Abnormal cardiovascular system physiology	2153	F5	ORPHA:131
HP:0011025	Abnormal cardiovascular system physiology	22827	PUF60	ORPHA:508488
HP:0011025	Abnormal cardiovascular system physiology	5728	PTEN	ORPHA:79076
HP:0011025	Abnormal cardiovascular system physiology	1499	CTNNB1	ORPHA:873
HP:0011025	Abnormal cardiovascular system physiology	324	APC	ORPHA:873
HP:0011025	Abnormal cardiovascular system physiology	7450	VWF	OMIM:193400
HP:0011025	Abnormal cardiovascular system physiology	11277	TREX1	OMIM:192315
HP:0011025	Abnormal cardiovascular system physiology	11277	TREX1	ORPHA:247691
HP:0011025	Abnormal cardiovascular system physiology	1493	CTLA4	ORPHA:900
HP:0011025	Abnormal cardiovascular system physiology	26191	PTPN22	ORPHA:900
HP:0011025	Abnormal cardiovascular system physiology	3115	HLA-DPB1	ORPHA:900
HP:0011025	Abnormal cardiovascular system physiology	5657	PRTN3	ORPHA:900
HP:0011025	Abnormal cardiovascular system physiology	3113	HLA-DPA1	ORPHA:900
HP:0011025	Abnormal cardiovascular system physiology	493856	CISD2	ORPHA:3463
HP:0011025	Abnormal cardiovascular system physiology	7466	WFS1	ORPHA:3463
HP:0011025	Abnormal cardiovascular system physiology	4598	MVK	ORPHA:343
HP:0011025	Abnormal cardiovascular system physiology	2243	FGA	ORPHA:98881
HP:0011025	Abnormal cardiovascular system physiology	2243	FGA	ORPHA:101041
HP:0011025	Abnormal cardiovascular system physiology	2244	FGB	ORPHA:98881
HP:0011025	Abnormal cardiovascular system physiology	2244	FGB	ORPHA:101041
HP:0011025	Abnormal cardiovascular system physiology	2266	FGG	ORPHA:98881
HP:0011025	Abnormal cardiovascular system physiology	2266	FGG	ORPHA:101041
HP:0011025	Abnormal cardiovascular system physiology	5054	SERPINE1	ORPHA:465
HP:0011025	Abnormal cardiovascular system physiology	79991	STN1	OMIM:617341
HP:0011025	Abnormal cardiovascular system physiology	3998	LMAN1	ORPHA:35909
HP:0011025	Abnormal cardiovascular system physiology	90411	MCFD2	ORPHA:35909
HP:0011025	Abnormal cardiovascular system physiology	11231	SEC63	ORPHA:2924
HP:0011025	Abnormal cardiovascular system physiology	5589	PRKCSH	ORPHA:2924
HP:0011025	Abnormal cardiovascular system physiology	4041	LRP5	ORPHA:2924
HP:0011025	Abnormal cardiovascular system physiology	10165	SLC25A13	ORPHA:247598
HP:0011025	Abnormal cardiovascular system physiology	3662	IRF4	ORPHA:3452
HP:0011025	Abnormal cardiovascular system physiology	3516	RBPJ	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	4851	NOTCH1	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	57514	ARHGAP31	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	57572	DOCK6	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	285203	EOGT	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	54567	DLL4	ORPHA:974
HP:0011025	Abnormal cardiovascular system physiology	199221	DZIP1L	ORPHA:731
HP:0011025	Abnormal cardiovascular system physiology	5314	PKHD1	ORPHA:731
HP:0011025	Abnormal cardiovascular system physiology	4351	MPI	ORPHA:79319
HP:0011025	Abnormal cardiovascular system physiology	811	CALR	ORPHA:131
HP:0011025	Abnormal cardiovascular system physiology	5156	PDGFRA	ORPHA:44890
HP:0011025	Abnormal cardiovascular system physiology	3815	KIT	ORPHA:44890
HP:0011025	Abnormal cardiovascular system physiology	2147	F2	OMIM:613679
HP:0011025	Abnormal cardiovascular system physiology	79651	RHBDF2	ORPHA:2198
HP:0011025	Abnormal cardiovascular system physiology	2184	FAH	OMIM:276700
HP:0011025	Abnormal cardiovascular system physiology	4615	MYD88	ORPHA:33226
HP:0011025	Abnormal cardiovascular system physiology	6794	STK11	ORPHA:2869
HP:0011025	Abnormal cardiovascular system physiology	5167	ENPP1	ORPHA:758
HP:0011025	Abnormal cardiovascular system physiology	8328	GFI1B	OMIM:187900
HP:0011025	Abnormal cardiovascular system physiology	149233	IL23R	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	6775	STAT4	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	3586	IL10	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	4210	MEFV	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	1230	CCR1	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	355	FAS	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	7099	TLR4	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	3459	IFNGR1	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	720	C4A	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	337867	UBAC2	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	51752	ERAP1	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	8302	KLRC4	ORPHA:117
HP:0011025	Abnormal cardiovascular system physiology	9968	MED12	OMIM:301068
HP:0011025	Abnormal cardiovascular system physiology	7456	WIPF1	ORPHA:906
HP:0011025	Abnormal cardiovascular system physiology	6720	SREBF1	OMIM:158310
HP:0011025	Abnormal cardiovascular system physiology	9493	KIF23	ORPHA:98870
HP:0011025	Abnormal cardiovascular system physiology	29127	RACGAP1	ORPHA:98870
HP:0011025	Abnormal cardiovascular system physiology	4221	MEN1	ORPHA:652
HP:0011025	Abnormal cardiovascular system physiology	1027	CDKN1B	ORPHA:652
HP:0011025	Abnormal cardiovascular system physiology	1026	CDKN1A	ORPHA:652
HP:0011025	Abnormal cardiovascular system physiology	1030	CDKN2B	ORPHA:652
HP:0011025	Abnormal cardiovascular system physiology	1031	CDKN2C	ORPHA:652
HP:0011025	Abnormal cardiovascular system physiology	1616	DAXX	ORPHA:100075
HP:0011025	Abnormal cardiovascular system physiology	7454	WAS	OMIM:301000
HP:0011025	Abnormal cardiovascular system physiology	2717	GLA	OMIM:301500
HP:0011025	Abnormal cardiovascular system physiology	2717	GLA	ORPHA:324
HP:0011025	Abnormal cardiovascular system physiology	71	ACTG1	ORPHA:2995
HP:0011025	Abnormal cardiovascular system physiology	60	ACTB	ORPHA:2995
HP:0011025	Abnormal cardiovascular system physiology	5654	HTRA1	OMIM:600142
HP:0011025	Abnormal cardiovascular system physiology	5654	HTRA1	OMIM:616779
HP:0011025	Abnormal cardiovascular system physiology	10019	SH2B3	ORPHA:3318
HP:0011025	Abnormal cardiovascular system physiology	57674	RNF213	OMIM:607151
HP:0011025	Abnormal cardiovascular system physiology	11093	ADAMTS13	OMIM:274150
HP:0011025	Abnormal cardiovascular system physiology	83483	PLVAP	OMIM:618183
HP:0011025	Abnormal cardiovascular system physiology	57551	TAOK1	OMIM:619575
HP:0011025	Abnormal cardiovascular system physiology	57217	TTC7A	OMIM:243150
HP:0011025	Abnormal cardiovascular system physiology	26585	GREM1	ORPHA:157794
HP:0011025	Abnormal cardiovascular system physiology	10616	RBCK1	OMIM:615895
HP:0011025	Abnormal cardiovascular system physiology	3257	HPS1	OMIM:203300
HP:0011025	Abnormal cardiovascular system physiology	9420	CYP7B1	OMIM:613812
HP:0011025	Abnormal cardiovascular system physiology	23600	AMACR	OMIM:214950
HP:0011025	Abnormal cardiovascular system physiology	23600	AMACR	ORPHA:79095
HP:0011025	Abnormal cardiovascular system physiology	10095	ARPC1B	OMIM:617718
HP:0011025	Abnormal cardiovascular system physiology	3587	IL10RA	OMIM:613148
HP:0011025	Abnormal cardiovascular system physiology	80169	CTC1	OMIM:612199
HP:0011025	Abnormal cardiovascular system physiology	7010	TEK	ORPHA:1059
HP:0011025	Abnormal cardiovascular system physiology	7010	TEK	OMIM:600195
HP:0011025	Abnormal cardiovascular system physiology	4791	NFKB2	ORPHA:293978
HP:0011025	Abnormal cardiovascular system physiology	846	CASR	ORPHA:428
HP:0011025	Abnormal cardiovascular system physiology	5972	REN	OMIM:267430
HP:0011025	Abnormal cardiovascular system physiology	1636	ACE	OMIM:267430
HP:0011025	Abnormal cardiovascular system physiology	1639	DCTN1	ORPHA:178509
HP:0011025	Abnormal cardiovascular system physiology	1644	DDC	OMIM:608643
HP:0011025	Abnormal cardiovascular system physiology	710	SERPING1	ORPHA:100050
HP:0011025	Abnormal cardiovascular system physiology	3284	HSD3B2	ORPHA:90791
HP:0011025	Abnormal cardiovascular system physiology	5144	PDE4D	ORPHA:439822
HP:0011025	Abnormal cardiovascular system physiology	5626	PROP1	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	5626	PROP1	ORPHA:90695
HP:0011025	Abnormal cardiovascular system physiology	89884	LHX4	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	3170	FOXA2	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	5449	POU1F1	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	8820	HESX1	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	5015	OTX2	ORPHA:95494
HP:0011025	Abnormal cardiovascular system physiology	6288	SAA1	ORPHA:85445
HP:0011025	Abnormal cardiovascular system physiology	9095	TBX19	ORPHA:199296
HP:0011025	Abnormal cardiovascular system physiology	56246	MRAP	ORPHA:361
HP:0011025	Abnormal cardiovascular system physiology	6770	STAR	ORPHA:361
HP:0011025	Abnormal cardiovascular system physiology	4158	MC2R	ORPHA:361
HP:0011025	Abnormal cardiovascular system physiology	23530	NNT	ORPHA:361
HP:0011025	Abnormal cardiovascular system physiology	10587	TXNRD2	ORPHA:361
HP:0011025	Abnormal cardiovascular system physiology	6658	SOX3	ORPHA:90695
HP:0011025	Abnormal cardiovascular system physiology	6557	SLC12A1	OMIM:601678
HP:0011025	Abnormal cardiovascular system physiology	3758	KCNJ1	OMIM:241200
HP:0011025	Abnormal cardiovascular system physiology	8974	P4HA2	ORPHA:397
HP:0011025	Abnormal cardiovascular system physiology	162417	NAGS	ORPHA:927
HP:0011025	Abnormal cardiovascular system physiology	26277	TINF2	OMIM:127550
HP:0011025	Abnormal cardiovascular system physiology	1756	DMD	OMIM:300376
HP:0011025	Abnormal cardiovascular system physiology	1756	DMD	OMIM:310200
HP:0011025	Abnormal cardiovascular system physiology	1621	DBH	ORPHA:230
HP:0011025	Abnormal cardiovascular system physiology	2395	FXN	OMIM:229300
HP:0011025	Abnormal cardiovascular system physiology	128989	TANGO2	ORPHA:480864
HP:0011025	Abnormal cardiovascular system physiology	8291	DYSF	ORPHA:268
HP:0011025	Abnormal cardiovascular system physiology	7276	TTR	ORPHA:85451
HP:0011025	Abnormal cardiovascular system physiology	1825	DSC3	OMIM:613102
HP:0011025	Abnormal cardiovascular system physiology	4758	NEU1	ORPHA:93400
HP:0011025	Abnormal cardiovascular system physiology	55654	TMEM127	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	55654	TMEM127	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	5979	RET	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	5979	RET	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	5979	RET	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	6390	SDHB	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	6390	SDHB	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	6390	SDHB	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	6392	SDHD	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	6392	SDHD	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	6392	SDHD	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	4149	MAX	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	4149	MAX	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	7428	VHL	OMIM:171300
HP:0011025	Abnormal cardiovascular system physiology	7428	VHL	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	7428	VHL	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	1743	DLST	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	4191	MDH2	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	6389	SDHA	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	23095	KIF1B	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	2271	FH	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	8402	SLC25A11	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	54949	SDHAF2	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	6391	SDHC	ORPHA:29072
HP:0011025	Abnormal cardiovascular system physiology	1788	DNMT3A	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	2034	EPAS1	ORPHA:276621
HP:0011025	Abnormal cardiovascular system physiology	291	SLC25A4	ORPHA:254892
HP:0011025	Abnormal cardiovascular system physiology	5428	POLG	ORPHA:254892
HP:0011025	Abnormal cardiovascular system physiology	56652	TWNK	ORPHA:254892
HP:0011025	Abnormal cardiovascular system physiology	11232	POLG2	ORPHA:254892
HP:0011025	Abnormal cardiovascular system physiology	50484	RRM2B	ORPHA:254892
HP:0011025	Abnormal cardiovascular system physiology	801	CALM1	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	3753	KCNE1	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	3762	KCNJ5	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	3762	KCNJ5	ORPHA:37553
HP:0011025	Abnormal cardiovascular system physiology	805	CALM2	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	6910	TBX5	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	6336	SCN10A	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	6336	SCN10A	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	3757	KCNH2	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	3757	KCNH2	ORPHA:51083
HP:0011025	Abnormal cardiovascular system physiology	9992	KCNE2	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	10142	AKAP9	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	10142	AKAP9	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	9722	NOS1AP	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	775	CACNA1C	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	775	CACNA1C	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	775	CACNA1C	OMIM:611875
HP:0011025	Abnormal cardiovascular system physiology	3784	KCNQ1	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	3784	KCNQ1	ORPHA:51083
HP:0011025	Abnormal cardiovascular system physiology	6330	SCN4B	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	808	CALM3	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	6640	SNTA1	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	859	CAV3	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	859	CAV3	OMIM:611818
HP:0011025	Abnormal cardiovascular system physiology	287	ANK2	ORPHA:101016
HP:0011025	Abnormal cardiovascular system physiology	23630	KCNE5	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	10371	SEMA3A	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	54795	TRPM4	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	10021	HCN4	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	3764	KCNJ8	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	5318	PKP2	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	7871	SLMAP	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	10060	ABCC9	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	29098	RANGRF	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	10008	KCNE3	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	55800	SCN3B	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	783	CACNB2	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	6337	SCNN1A	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	6327	SCN2B	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	781	CACNA2D1	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	781	CACNA2D1	ORPHA:51083
HP:0011025	Abnormal cardiovascular system physiology	6324	SCN1B	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	23171	GPD1L	ORPHA:130
HP:0011025	Abnormal cardiovascular system physiology	5350	PLN	OMIM:609909
HP:0011025	Abnormal cardiovascular system physiology	5894	RAF1	OMIM:615916
HP:0011025	Abnormal cardiovascular system physiology	1837	DTNA	OMIM:604169
HP:0011025	Abnormal cardiovascular system physiology	3728	JUP	OMIM:601214
HP:0011025	Abnormal cardiovascular system physiology	3728	JUP	OMIM:611528
HP:0011025	Abnormal cardiovascular system physiology	1829	DSG2	OMIM:610193
HP:0011025	Abnormal cardiovascular system physiology	70	ACTC1	OMIM:613424
HP:0011025	Abnormal cardiovascular system physiology	1824	DSC2	OMIM:610476
HP:0011025	Abnormal cardiovascular system physiology	4625	MYH7	OMIM:613426
HP:0011025	Abnormal cardiovascular system physiology	3759	KCNJ2	ORPHA:51083
HP:0011025	Abnormal cardiovascular system physiology	3759	KCNJ2	ORPHA:37553
HP:0011025	Abnormal cardiovascular system physiology	6508	SLC4A3	ORPHA:51083
HP:0011025	Abnormal cardiovascular system physiology	11155	LDB3	OMIM:601493
HP:0011025	Abnormal cardiovascular system physiology	51422	PRKAG2	OMIM:194200
HP:0011025	Abnormal cardiovascular system physiology	51422	PRKAG2	OMIM:600858
HP:0011025	Abnormal cardiovascular system physiology	4535	MT-ND1	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4536	MT-ND2	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4538	MT-ND4	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4720	NDUFS2	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4512	MT-CO1	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4514	MT-CO3	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4519	MT-CYB	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4508	MT-ATP6	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4540	MT-ND5	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4541	MT-ND6	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	4539	MT-ND4L	ORPHA:104
HP:0011025	Abnormal cardiovascular system physiology	3949	LDLR	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	255738	PCSK9	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	26119	LDLRAP1	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	338	APOB	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	64240	ABCG5	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	64241	ABCG8	ORPHA:391665
HP:0011025	Abnormal cardiovascular system physiology	22800	RRAS2	OMIM:618624
HP:0011025	Abnormal cardiovascular system physiology	85440	DOCK7	OMIM:615859
HP:0011025	Abnormal cardiovascular system physiology	4907	NT5E	OMIM:211800
HP:0011025	Abnormal cardiovascular system physiology	189	AGXT	OMIM:259900
HP:0011025	Abnormal cardiovascular system physiology	4352	MPL	ORPHA:729
HP:0011025	Abnormal cardiovascular system physiology	2321	FLT1	ORPHA:275555
HP:0011025	Abnormal cardiovascular system physiology	219736	STOX1	ORPHA:275555
HP:0011025	Abnormal cardiovascular system physiology	10699	CORIN	ORPHA:275555
HP:0011025	Abnormal cardiovascular system physiology	554	AVPR2	OMIM:300539
HP:0011025	Abnormal cardiovascular system physiology	4846	NOS3	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	1889	ECE1	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	1577	CYP3A5	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	2784	GNB3	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	8490	RGS5	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	5740	PTGIS	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	118	ADD1	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	481	ATP1B1	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	185	AGTR1	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	183	AGT	OMIM:145500
HP:0011025	Abnormal cardiovascular system physiology	1193	CLIC2	ORPHA:324410
HP:0011025	Abnormal cardiovascular system physiology	151648	SGO1	OMIM:616201
HP:0011025	Abnormal cardiovascular system physiology	1760	DMPK	OMIM:160900
HP:0011025	Abnormal cardiovascular system physiology	2771	GNAI2	OMIM:192605
HP:0011025	Abnormal cardiovascular system physiology	442721	LMOD2	OMIM:619897
HP:0011025	Abnormal cardiovascular system physiology	284252	KCTD1	OMIM:181270
HP:0011025	Abnormal cardiovascular system physiology	9631	NUP155	OMIM:615770
HP:0011025	Abnormal cardiovascular system physiology	80308	FLAD1	OMIM:255100
HP:0011025	Abnormal cardiovascular system physiology	88	ACTN2	OMIM:612158
HP:0011025	Abnormal cardiovascular system physiology	4633	MYL2	OMIM:608758
HP:0011025	Abnormal cardiovascular system physiology	54539	NDUFB11	OMIM:300952
HP:0011025	Abnormal cardiovascular system physiology	8260	NAA10	OMIM:300855
HP:0011025	Abnormal cardiovascular system physiology	57158	JPH2	OMIM:613873
HP:0011025	Abnormal cardiovascular system physiology	788	SLC25A20	OMIM:212138
HP:0011025	Abnormal cardiovascular system physiology	788	SLC25A20	ORPHA:159
HP:0011025	Abnormal cardiovascular system physiology	29119	CTNNA3	OMIM:615616
HP:0011025	Abnormal cardiovascular system physiology	7168	TPM1	OMIM:611878
HP:0011025	Abnormal cardiovascular system physiology	779	CACNA1S	ORPHA:423
HP:0011025	Abnormal cardiovascular system physiology	37	ACADVL	ORPHA:26793
HP:0011025	Abnormal cardiovascular system physiology	1410	CRYAB	OMIM:615184
HP:0011025	Abnormal cardiovascular system physiology	2992	GYG1	ORPHA:263297
HP:0011025	Abnormal cardiovascular system physiology	1376	CPT2	OMIM:600649
HP:0011025	Abnormal cardiovascular system physiology	9529	BAG5	OMIM:619747
HP:0011025	Abnormal cardiovascular system physiology	7273	TTN	OMIM:604145
HP:0011025	Abnormal cardiovascular system physiology	4635	MYL4	OMIM:617280
HP:0011025	Abnormal cardiovascular system physiology	3741	KCNA5	OMIM:612240
HP:0011025	Abnormal cardiovascular system physiology	8048	CSRP3	OMIM:612124
HP:0011025	Abnormal cardiovascular system physiology	29967	LRP12	OMIM:164310
HP:0011025	Abnormal cardiovascular system physiology	650	BMP2	OMIM:617877
HP:0011025	Abnormal cardiovascular system physiology	51086	TNNI3K	OMIM:616117
HP:0011025	Abnormal cardiovascular system physiology	3777	KCNK3	OMIM:615344
HP:0011025	Abnormal cardiovascular system physiology	440275	EIF2AK4	ORPHA:199241
HP:0011025	Abnormal cardiovascular system physiology	410	ARSA	ORPHA:309271
HP:0011025	Abnormal cardiovascular system physiology	2934	GSN	ORPHA:85448
HP:0011025	Abnormal cardiovascular system physiology	3953	LEPR	ORPHA:179494
HP:0011025	Abnormal cardiovascular system physiology	23317	DNAJC13	ORPHA:411602
HP:0011025	Abnormal cardiovascular system physiology	1981	EIF4G1	ORPHA:411602
HP:0011025	Abnormal cardiovascular system physiology	55737	VPS35	ORPHA:411602
HP:0011025	Abnormal cardiovascular system physiology	120892	LRRK2	ORPHA:411602
HP:0011025	Abnormal cardiovascular system physiology	26058	GIGYF2	ORPHA:411602
HP:0011025	Abnormal cardiovascular system physiology	3952	LEP	ORPHA:66628
HP:0011025	Abnormal cardiovascular system physiology	7504	XK	OMIM:300842
HP:0011025	Abnormal cardiovascular system physiology	57798	GATAD1	OMIM:614672
HP:0011025	Abnormal cardiovascular system physiology	353	APRT	ORPHA:976
HP:0011025	Abnormal cardiovascular system physiology	140628	GATA5	OMIM:617912
HP:0011025	Abnormal cardiovascular system physiology	91624	NEXN	OMIM:613876
HP:0011025	Abnormal cardiovascular system physiology	284119	CAVIN1	OMIM:613327
HP:0011025	Abnormal cardiovascular system physiology	25792	CIZ1	ORPHA:420492
HP:0011025	Abnormal cardiovascular system physiology	1674	DES	ORPHA:98909
HP:0011025	Abnormal cardiovascular system physiology	2273	FHL1	ORPHA:98863
HP:0011025	Abnormal cardiovascular system physiology	2010	EMD	ORPHA:98863
HP:0011025	Abnormal cardiovascular system physiology	23345	SYNE1	ORPHA:98853
HP:0011025	Abnormal cardiovascular system physiology	23224	SYNE2	ORPHA:98853
HP:0011025	Abnormal cardiovascular system physiology	2972	BRF1	ORPHA:444072
HP:0011025	Abnormal cardiovascular system physiology	80067	DCAF17	OMIM:241080
HP:0011025	Abnormal cardiovascular system physiology	80067	DCAF17	ORPHA:3464
HP:0011025	Abnormal cardiovascular system physiology	4204	MECP2	OMIM:312750
HP:0011025	Abnormal cardiovascular system physiology	773	CACNA1A	ORPHA:2131
HP:0011025	Abnormal cardiovascular system physiology	6507	SLC1A3	ORPHA:2131
HP:0011025	Abnormal cardiovascular system physiology	477	ATP1A2	ORPHA:2131
HP:0011025	Abnormal cardiovascular system physiology	478	ATP1A3	ORPHA:2131
HP:0011025	Abnormal cardiovascular system physiology	644096	SDHAF1	ORPHA:3208
HP:0011025	Abnormal cardiovascular system physiology	54914	FOCAD	OMIM:619991
HP:0011025	Abnormal cardiovascular system physiology	10585	POMT1	OMIM:613155
HP:0011025	Abnormal cardiovascular system physiology	55593	OTUD5	OMIM:301056
HP:0011025	Abnormal cardiovascular system physiology	79147	FKRP	OMIM:607155
HP:0011025	Abnormal cardiovascular system physiology	54892	NCAPG2	OMIM:618460
HP:0011025	Abnormal cardiovascular system physiology	4750	NEK1	OMIM:263520
HP:0011025	Abnormal cardiovascular system physiology	5828	PEX2	OMIM:614866
HP:0011025	Abnormal cardiovascular system physiology	79770	TXNDC15	OMIM:619879
HP:0011025	Abnormal cardiovascular system physiology	3032	HADHB	ORPHA:746
HP:0011025	Abnormal cardiovascular system physiology	3030	HADHA	ORPHA:746
HP:0011025	Abnormal cardiovascular system physiology	79796	ALG9	ORPHA:79328
HP:0011025	Abnormal cardiovascular system physiology	114803	MYSM1	ORPHA:508542
HP:0011025	Abnormal cardiovascular system physiology	113189	CHST14	OMIM:601776
HP:0011025	Abnormal cardiovascular system physiology	10651	MTX2	OMIM:619127
HP:0011025	Abnormal cardiovascular system physiology	1857	DVL3	OMIM:616894
HP:0011025	Abnormal cardiovascular system physiology	55790	CSGALNACT1	OMIM:618870
HP:0011025	Abnormal cardiovascular system physiology	5500	PPP1CB	OMIM:617506
HP:0011025	Abnormal cardiovascular system physiology	6901	TAFAZZIN	OMIM:302060
HP:0011025	Abnormal cardiovascular system physiology	7125	TNNC2	OMIM:620161
HP:0011025	Abnormal cardiovascular system physiology	56915	EXOSC5	OMIM:619576
HP:0011025	Abnormal cardiovascular system physiology	537	ATP6AP1	OMIM:300972
HP:0011025	Abnormal cardiovascular system physiology	388753	COA6	OMIM:616501
HP:0011025	Abnormal cardiovascular system physiology	5885	RAD21	OMIM:611376
HP:0011025	Abnormal cardiovascular system physiology	84100	ARL6	OMIM:600151
HP:0011025	Abnormal cardiovascular system physiology	3052	HCCS	ORPHA:2556
HP:0011025	Abnormal cardiovascular system physiology	6045	RNF2	OMIM:619460
HP:0011025	Abnormal cardiovascular system physiology	22884	WDR37	OMIM:618652
HP:0011025	Abnormal cardiovascular system physiology	341208	HEPHL1	OMIM:261990
HP:0011025	Abnormal cardiovascular system physiology	1954	MEGF8	OMIM:614976
HP:0011025	Abnormal cardiovascular system physiology	2165	F13B	ORPHA:331
HP:0011025	Abnormal cardiovascular system physiology	5345	SERPINF2	OMIM:262850
HP:0011025	Abnormal cardiovascular system physiology	5345	SERPINF2	ORPHA:79
HP:0011025	Abnormal cardiovascular system physiology	2677	GGCX	OMIM:277450
HP:0011025	Abnormal cardiovascular system physiology	5328	PLAU	OMIM:601709
HP:0011025	Abnormal cardiovascular system physiology	6492	SIM1	ORPHA:369873
HP:0011025	Abnormal cardiovascular system physiology	10568	SLC34A2	ORPHA:60025
HP:0011025	Abnormal cardiovascular system physiology	57538	ALPK3	OMIM:618052
HP:0011025	Abnormal cardiovascular system physiology	6329	SCN4A	ORPHA:681
HP:0011025	Abnormal cardiovascular system physiology	100134444	KCNJ18	ORPHA:79102
HP:0011025	Abnormal cardiovascular system physiology	2556	GABRA3	ORPHA:79102
HP:0011025	Abnormal cardiovascular system physiology	10560	SLC19A2	ORPHA:49827
HP:0011025	Abnormal cardiovascular system physiology	161742	SPRED1	ORPHA:137605
HP:0011025	Abnormal cardiovascular system physiology	26007	TKFC	OMIM:618805
HP:0011025	Abnormal cardiovascular system physiology	55679	LIMS2	OMIM:616827
HP:0011025	Abnormal cardiovascular system physiology	6444	SGCD	OMIM:606685
HP:0011025	Abnormal cardiovascular system physiology	7169	TPM2	ORPHA:171881
HP:0011025	Abnormal cardiovascular system physiology	7170	TPM3	ORPHA:171881
HP:0011025	Abnormal cardiovascular system physiology	10265	IRX5	OMIM:611174
HP:0011025	Abnormal cardiovascular system physiology	26092	TOR1AIP1	OMIM:617072
HP:0011025	Abnormal cardiovascular system physiology	7716	VEZF1	OMIM:620247
HP:0011025	Abnormal cardiovascular system physiology	83475	DOHH	OMIM:620066
HP:0011025	Abnormal cardiovascular system physiology	7555	CNBP	OMIM:602668
HP:0011025	Abnormal cardiovascular system physiology	1804	DPP6	OMIM:612956
HP:0011025	Abnormal cardiovascular system physiology	54820	NDE1	ORPHA:2177
HP:0011025	Abnormal cardiovascular system physiology	8322	FZD4	OMIM:133780
HP:0011025	Abnormal cardiovascular system physiology	8322	FZD4	ORPHA:891
HP:0011025	Abnormal cardiovascular system physiology	8322	FZD4	ORPHA:90050
HP:0011025	Abnormal cardiovascular system physiology	4693	NDP	ORPHA:891
HP:0011025	Abnormal cardiovascular system physiology	4693	NDP	ORPHA:90050
HP:0011025	Abnormal cardiovascular system physiology	23554	TSPAN12	ORPHA:891
HP:0011025	Abnormal cardiovascular system physiology	79797	ZNF408	ORPHA:891
HP:0011025	Abnormal cardiovascular system physiology	726	CAPN5	OMIM:193235
HP:0011025	Abnormal cardiovascular system physiology	7439	BEST1	OMIM:193220
HP:0011025	Abnormal cardiovascular system physiology	5624	PROC	OMIM:612304
HP:0011025	Abnormal cardiovascular system physiology	6247	RS1	OMIM:312700
HP:0011025	Abnormal cardiovascular system physiology	5925	RB1	OMIM:180200
HP:0011025	Abnormal cardiovascular system physiology	57105	CYSLTR2	ORPHA:39044
HP:0011025	Abnormal cardiovascular system physiology	2776	GNAQ	ORPHA:39044
HP:0011025	Abnormal cardiovascular system physiology	2767	GNA11	ORPHA:39044
HP:0011025	Abnormal cardiovascular system physiology	23451	SF3B1	ORPHA:39044
HP:0011025	Abnormal cardiovascular system physiology	23137	SMC5	OMIM:620185
HP:0011025	Abnormal cardiovascular system physiology	5250	SLC25A3	ORPHA:91130
HP:0011025	Abnormal cardiovascular system physiology	57104	PNPLA2	ORPHA:565612
HP:0011025	Abnormal cardiovascular system physiology	100	ADA	ORPHA:277
HP:0011025	Abnormal cardiovascular system physiology	221496	LEMD2	OMIM:619322
HP:0011025	Abnormal cardiovascular system physiology	83544	DNAL1	OMIM:614017
HP:0011025	Abnormal cardiovascular system physiology	653509	SFTPA1	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	21	ABCA3	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	10144	FAM13A	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	23250	ATP11A	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	91039	DPP9	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	51750	RTEL1	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	7012	TERC	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	5073	PARN	ORPHA:2032
HP:0011025	Abnormal cardiovascular system physiology	27130	INVS	OMIM:602088
HP:0011025	Abnormal cardiovascular system physiology	5337	PLD1	OMIM:212093
HP:0011025	Abnormal cardiovascular system physiology	4613	MYCN	ORPHA:391641
HP:0011025	Abnormal cardiovascular system physiology	4613	MYCN	OMIM:164280
HP:0011025	Abnormal cardiovascular system physiology	9719	ADAMTSL2	OMIM:231050
HP:0011025	Abnormal cardiovascular system physiology	6223	RPS19	OMIM:105650
HP:0011025	Abnormal cardiovascular system physiology	1201	CLN3	ORPHA:228346
HP:0011025	Abnormal cardiovascular system physiology	55315	SLC29A3	ORPHA:168569
HP:0011025	Abnormal cardiovascular system physiology	4179	CD46	ORPHA:244242
HP:0011025	Abnormal cardiovascular system physiology	101101692	HELLPAR	ORPHA:244242
HP:0011025	Abnormal cardiovascular system physiology	3458	IFNG	ORPHA:805
HP:0011025	Abnormal cardiovascular system physiology	359	AQP2	ORPHA:223
HP:0011025	Abnormal cardiovascular system physiology	1583	CYP11A1	ORPHA:289548
HP:0011025	Abnormal cardiovascular system physiology	1583	CYP11A1	ORPHA:168558
HP:0011025	Abnormal cardiovascular system physiology	6809	STX3	ORPHA:2290
HP:0011025	Abnormal cardiovascular system physiology	4645	MYO5B	ORPHA:2290
HP:0011025	Abnormal cardiovascular system physiology	1497	CTNS	ORPHA:411634
HP:0011025	Abnormal cardiovascular system physiology	2645	GCK	ORPHA:99885
HP:0011025	Abnormal cardiovascular system physiology	3651	PDX1	ORPHA:99885
HP:0011025	Abnormal cardiovascular system physiology	3630	INS	ORPHA:99885
HP:0011025	Abnormal cardiovascular system physiology	26235	FBXL4	OMIM:615471
HP:0011025	Abnormal cardiovascular system physiology	148738	HJV	OMIM:602390
HP:0011025	Abnormal cardiovascular system physiology	23384	SPECC1L	ORPHA:1519
HP:0011025	Abnormal cardiovascular system physiology	30061	SLC40A1	OMIM:606069
HP:0011025	Abnormal cardiovascular system physiology	6926	TBX3	ORPHA:3138
HP:0011025	Abnormal cardiovascular system physiology	6926	TBX3	OMIM:181450
HP:0011025	Abnormal cardiovascular system physiology	222663	SCUBE3	OMIM:619184
HP:0011025	Abnormal cardiovascular system physiology	7274	TTPA	ORPHA:96
HP:0011025	Abnormal cardiovascular system physiology	5189	PEX1	ORPHA:3220
HP:0011025	Abnormal cardiovascular system physiology	5189	PEX1	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5190	PEX6	ORPHA:3220
HP:0011025	Abnormal cardiovascular system physiology	5190	PEX6	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	92667	MGME1	ORPHA:352447
HP:0011025	Abnormal cardiovascular system physiology	92667	MGME1	OMIM:615084
HP:0011025	Abnormal cardiovascular system physiology	23175	LPIN1	ORPHA:99845
HP:0011025	Abnormal cardiovascular system physiology	34	ACADM	ORPHA:42
HP:0011025	Abnormal cardiovascular system physiology	51567	TDP2	OMIM:616949
HP:0011025	Abnormal cardiovascular system physiology	2303	FOXC2	ORPHA:33001
HP:0011025	Abnormal cardiovascular system physiology	2303	FOXC2	OMIM:153400
HP:0011025	Abnormal cardiovascular system physiology	226	ALDOA	ORPHA:57
HP:0011025	Abnormal cardiovascular system physiology	26100	WIPI2	OMIM:618453
HP:0011025	Abnormal cardiovascular system physiology	54332	GDAP1	ORPHA:99944
HP:0011025	Abnormal cardiovascular system physiology	267010	RNU12	OMIM:620208
HP:0011025	Abnormal cardiovascular system physiology	85366	MYLK2	OMIM:192600
HP:0011025	Abnormal cardiovascular system physiology	57167	SALL4	ORPHA:2307
HP:0011025	Abnormal cardiovascular system physiology	55670	PEX26	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5824	PEX19	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	8504	PEX3	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	9409	PEX16	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	8799	PEX11B	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5193	PEX12	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5194	PEX13	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5195	PEX14	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	5192	PEX10	ORPHA:772
HP:0011025	Abnormal cardiovascular system physiology	9759	HDAC4	OMIM:600430
HP:0011025	Abnormal cardiovascular system physiology	6237	RRAS	ORPHA:648
HP:0011025	Abnormal cardiovascular system physiology	5922	RASA2	ORPHA:648
HP:0011025	Abnormal cardiovascular system physiology	5696	PSMB8	OMIM:256040
HP:0011025	Abnormal cardiovascular system physiology	3712	IVD	OMIM:243500
HP:0011025	Abnormal cardiovascular system physiology	4594	MMUT	OMIM:251000
HP:0011025	Abnormal cardiovascular system physiology	5095	PCCA	OMIM:606054
HP:0011025	Abnormal cardiovascular system physiology	5096	PCCB	OMIM:606054
HP:0011025	Abnormal cardiovascular system physiology	5830	PEX5	OMIM:616716
HP:0011025	Abnormal cardiovascular system physiology	2239	GPC4	ORPHA:373
HP:0011025	Abnormal cardiovascular system physiology	2719	GPC3	ORPHA:373
HP:0011025	Abnormal cardiovascular system physiology	5339	PLEC	ORPHA:254361
HP:0011025	Abnormal cardiovascular system physiology	128869	PIGU	OMIM:618590
HP:0011025	Abnormal cardiovascular system physiology	246243	RNASEH1	OMIM:616479
HP:0011025	Abnormal cardiovascular system physiology	7386	UQCRFS1	OMIM:618775
HP:0011025	Abnormal cardiovascular system physiology	220202	ATOH7	ORPHA:91495
HP:0011025	Abnormal cardiovascular system physiology	9839	ZEB2	ORPHA:261552
HP:0011025	Abnormal cardiovascular system physiology	5903	RANBP2	ORPHA:88619
HP:0011025	Abnormal cardiovascular system physiology	79577	CDC73	ORPHA:143
HP:0011025	Abnormal cardiovascular system physiology	79577	CDC73	ORPHA:99880
HP:0011025	Abnormal cardiovascular system physiology	10681	GNB5	ORPHA:542306
HP:0011025	Abnormal cardiovascular system physiology	79228	THOC6	ORPHA:363444
HP:0011025	Abnormal cardiovascular system physiology	79989	IFT56	OMIM:619534
HP:0011025	Abnormal cardiovascular system physiology	7156	TOP3A	OMIM:618098
HP:0011025	Abnormal cardiovascular system physiology	3910	LAMA4	OMIM:615235
HP:0011025	Abnormal cardiovascular system physiology	439	GET3	OMIM:620203
HP:0011025	Abnormal cardiovascular system physiology	57505	AARS2	OMIM:614096
HP:0011025	Abnormal cardiovascular system physiology	5264	PHYH	ORPHA:773
HP:0011025	Abnormal cardiovascular system physiology	5191	PEX7	ORPHA:773
HP:0011025	Abnormal cardiovascular system physiology	6023	RMRP	ORPHA:175
HP:0011025	Abnormal cardiovascular system physiology	8318	CDC45	OMIM:617063
HP:0011025	Abnormal cardiovascular system physiology	4035	LRP1	ORPHA:79100
HP:0011025	Abnormal cardiovascular system physiology	84196	USP48	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	7157	TP53	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	9101	USP8	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	64072	CDH23	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	2908	NR3C1	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	673	BRAF	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	546	ATRX	ORPHA:96253
HP:0011025	Abnormal cardiovascular system physiology	7512	XPNPEP2	ORPHA:100057
HP:0011025	Abnormal cardiovascular system physiology	1281	COL3A1	OMIM:130050
HP:0011025	Abnormal cardiovascular system physiology	1277	COL1A1	ORPHA:287
HP:0011025	Abnormal cardiovascular system physiology	1277	COL1A1	OMIM:619115
HP:0011025	Abnormal cardiovascular system physiology	1289	COL5A1	ORPHA:287
HP:0011025	Abnormal cardiovascular system physiology	1290	COL5A2	ORPHA:287
HP:0011025	Abnormal cardiovascular system physiology	5351	PLOD1	OMIM:225400
HP:0011025	Abnormal cardiovascular system physiology	5351	PLOD1	ORPHA:1900
HP:0011025	Abnormal cardiovascular system physiology	1278	COL1A2	OMIM:619120
HP:0011025	Abnormal cardiovascular system physiology	55033	FKBP14	ORPHA:300179
HP:0011025	Abnormal cardiovascular system physiology	8985	PLOD3	OMIM:612394
HP:0011025	Abnormal cardiovascular system physiology	6840	SVIL	OMIM:619040
HP:0011025	Abnormal cardiovascular system physiology	171019	ADAMTS19	OMIM:620067
HP:0011025	Abnormal cardiovascular system physiology	6445	SGCG	ORPHA:353
HP:0011025	Abnormal cardiovascular system physiology	282996	RBM20	OMIM:613172
HP:0011025	Abnormal cardiovascular system physiology	63976	PRDM16	OMIM:615373
HP:0011025	Abnormal cardiovascular system physiology	29954	POMT2	OMIM:613156
HP:0011025	Abnormal cardiovascular system physiology	29954	POMT2	ORPHA:206559
HP:0011025	Abnormal cardiovascular system physiology	6533	SLC6A6	OMIM:145350
HP:0011025	Abnormal cardiovascular system physiology	23545	ATP6V0A2	ORPHA:357074
HP:0011025	Abnormal cardiovascular system physiology	523	ATP6V1A	ORPHA:357074
HP:0011025	Abnormal cardiovascular system physiology	529	ATP6V1E1	ORPHA:357074
HP:0011025	Abnormal cardiovascular system physiology	462	SERPINC1	OMIM:613118
HP:0011025	Abnormal cardiovascular system physiology	6774	STAT3	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	5371	PML	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	5914	RARA	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	359948	IRF2BP2	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	81608	FIP1L1	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	4869	NPM1	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	54880	BCOR	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	64859	NABP1	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	6777	STAT5B	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	4926	NUMA1	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	7704	ZBTB16	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	79718	TBL1XR1	ORPHA:520
HP:0011025	Abnormal cardiovascular system physiology	58484	NLRC4	OMIM:616050
HP:0011025	Abnormal cardiovascular system physiology	2702	GJA5	OMIM:108770
HP:0011025	Abnormal cardiovascular system physiology	6262	RYR2	OMIM:604772
HP:0011025	Abnormal cardiovascular system physiology	845	CASQ2	OMIM:604772
HP:0011025	Abnormal cardiovascular system physiology	10345	TRDN	OMIM:604772
HP:0011025	Abnormal cardiovascular system physiology	7840	ALMS1	ORPHA:64
HP:0011025	Abnormal cardiovascular system physiology	2202	EFEMP1	ORPHA:75376
HP:0011025	Abnormal cardiovascular system physiology	3075	CFH	ORPHA:75376
HP:0011025	Abnormal cardiovascular system physiology	3426	CFI	ORPHA:75376
HP:0011025	Abnormal cardiovascular system physiology	348	APOE	OMIM:603075
HP:0011025	Abnormal cardiovascular system physiology	83872	HMCN1	OMIM:603075
HP:0011025	Abnormal cardiovascular system physiology	3078	CFHR1	OMIM:603075
HP:0011025	Abnormal cardiovascular system physiology	10878	CFHR3	OMIM:603075
HP:0011025	Abnormal cardiovascular system physiology	3932	LCK	OMIM:615758
HP:0011025	Abnormal cardiovascular system physiology	2492	FSHR	ORPHA:64739
HP:0011025	Abnormal cardiovascular system physiology	6711	SPTBN1	OMIM:619475
HP:0011025	Abnormal cardiovascular system physiology	23394	ADNP	OMIM:615873
HP:0011025	Abnormal cardiovascular system physiology	10283	CWC27	ORPHA:166035
HP:0011025	Abnormal cardiovascular system physiology	5932	RBBP8	OMIM:606744
HP:0011025	Abnormal cardiovascular system physiology	1656	DDX6	OMIM:618653
HP:0011025	Abnormal cardiovascular system physiology	29998	BICRA	OMIM:619325
HP:0011025	Abnormal cardiovascular system physiology	6595	SMARCA2	ORPHA:2728
HP:0011025	Abnormal cardiovascular system physiology	2157	F8	ORPHA:169805
HP:0011025	Abnormal cardiovascular system physiology	4774	NFIA	ORPHA:401986
HP:0011025	Abnormal cardiovascular system physiology	55788	LMBRD1	ORPHA:79284
HP:0011025	Abnormal cardiovascular system physiology	284058	KANSL1	ORPHA:363965
HP:0011025	Abnormal cardiovascular system physiology	284058	KANSL1	ORPHA:363958
HP:0011025	Abnormal cardiovascular system physiology	6678	SPARC	OMIM:616507
HP:0011025	Abnormal cardiovascular system physiology	165918	RNF168	ORPHA:420741
HP:0011025	Abnormal cardiovascular system physiology	100131801	PET100	OMIM:619055
HP:0011025	Abnormal cardiovascular system physiology	92935	MARS2	OMIM:616430
HP:0011025	Abnormal cardiovascular system physiology	654	BMP6	ORPHA:465508
HP:0011025	Abnormal cardiovascular system physiology	3077	HFE	ORPHA:465508
HP:0011025	Abnormal cardiovascular system physiology	6261	RYR1	ORPHA:466650
HP:0011025	Abnormal cardiovascular system physiology	213	ALB	ORPHA:86816
HP:0011025	Abnormal cardiovascular system physiology	4052	LTBP1	ORPHA:90349
HP:0011025	Abnormal cardiovascular system physiology	30008	EFEMP2	ORPHA:90349
HP:0011025	Abnormal cardiovascular system physiology	10516	FBLN5	ORPHA:90349
HP:0011025	Abnormal cardiovascular system physiology	54790	TET2	ORPHA:98826
HP:0011025	Abnormal cardiovascular system physiology	4841	NONO	ORPHA:466791
HP:0011025	Abnormal cardiovascular system physiology	1738	DLD	ORPHA:2394
HP:0011025	Abnormal cardiovascular system physiology	2070	EYA4	ORPHA:217622
HP:0011025	Abnormal cardiovascular system physiology	56244	BTNL2	ORPHA:797
HP:0011025	Abnormal cardiovascular system physiology	3123	HLA-DRB1	ORPHA:797
HP:0011025	Abnormal cardiovascular system physiology	54	ACP5	OMIM:607944
HP:0011025	Abnormal cardiovascular system physiology	54	ACP5	ORPHA:1855
HP:0011025	Abnormal cardiovascular system physiology	54941	RNF125	OMIM:616260
HP:0011025	Abnormal cardiovascular system physiology	340061	STING1	OMIM:615934
HP:0011025	Abnormal cardiovascular system physiology	6696	SPP1	ORPHA:93552
HP:0011025	Abnormal cardiovascular system physiology	3654	IRAK1	ORPHA:93552
HP:0011025	Abnormal cardiovascular system physiology	3265	HRAS	ORPHA:2874
HP:0011025	Abnormal cardiovascular system physiology	51284	TLR7	OMIM:301080
HP:0011025	Abnormal cardiovascular system physiology	4000	LMNA	ORPHA:740
HP:0011025	Abnormal cardiovascular system physiology	10269	ZMPSTE24	ORPHA:740
HP:0011025	Abnormal cardiovascular system physiology	10535	RNASEH2A	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	84153	RNASEH2C	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	25939	SAMHD1	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	79621	RNASEH2B	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	103	ADAR	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	100147744	RNU7-1	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	134353	LSM11	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	64135	IFIH1	ORPHA:51
HP:0011025	Abnormal cardiovascular system physiology	1188	CLCNKB	ORPHA:358
HP:0011025	Abnormal cardiovascular system physiology	6559	SLC12A3	ORPHA:358
HP:0011025	Abnormal cardiovascular system physiology	6521	SLC4A1	ORPHA:3202
HP:0011025	Abnormal cardiovascular system physiology	9780	PIEZO1	ORPHA:3202
HP:0011025	Abnormal cardiovascular system physiology	3783	KCNN4	ORPHA:3202
HP:0011025	Abnormal cardiovascular system physiology	6340	SCNN1G	ORPHA:171876
HP:0011025	Abnormal cardiovascular system physiology	6338	SCNN1B	ORPHA:171876
HP:0011025	Abnormal cardiovascular system physiology	4537	MT-ND3	ORPHA:255210
HP:0011025	Abnormal cardiovascular system physiology	58	ACTA1	ORPHA:97244
HP:0011025	Abnormal cardiovascular system physiology	1387	CREBBP	ORPHA:353281
HP:0011025	Abnormal cardiovascular system physiology	1387	CREBBP	ORPHA:353277
HP:0011025	Abnormal cardiovascular system physiology	2033	EP300	ORPHA:353284
HP:0011025	Abnormal cardiovascular system physiology	25915	NDUFAF3	ORPHA:70474
HP:0011025	Abnormal cardiovascular system physiology	4714	NDUFB8	ORPHA:70474
HP:0011025	Abnormal cardiovascular system physiology	6834	SURF1	ORPHA:70474
HP:0011025	Abnormal cardiovascular system physiology	5236	PGM1	OMIM:614921
HP:0011025	Abnormal cardiovascular system physiology	79158	GNPTAB	ORPHA:576
HP:0011025	Abnormal cardiovascular system physiology	137814	NKX2-6	ORPHA:3384
HP:0011025	Abnormal cardiovascular system physiology	23129	PLXND1	ORPHA:3384
HP:0011025	Abnormal cardiovascular system physiology	54800	KLHL24	OMIM:620236
HP:0011025	Abnormal cardiovascular system physiology	80206	FHOD3	OMIM:619402
HP:0011025	Abnormal cardiovascular system physiology	7291	TWIST1	OMIM:123100
HP:0011025	Abnormal cardiovascular system physiology	54916	TMEM260	OMIM:617478
HP:0011025	Abnormal cardiovascular system physiology	2260	FGFR1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	2260	FGFR1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	28514	DLL1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	28514	DLL1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	28514	DLL1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	28514	DLL1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	10735	STAG2	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	10735	STAG2	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	2253	FGF8	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	2253	FGF8	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	2253	FGF8	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	2253	FGF8	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	8243	SMC1A	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	6496	SIX3	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	6496	SIX3	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	6496	SIX3	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	6496	SIX3	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	7050	TGIF1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	7050	TGIF1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	7050	TGIF1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	7050	TGIF1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	4838	NODAL	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	4838	NODAL	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	4838	NODAL	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	4838	NODAL	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	6469	SHH	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	6469	SHH	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	6469	SHH	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	6469	SHH	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	7546	ZIC2	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	7546	ZIC2	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	7546	ZIC2	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	7546	ZIC2	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	6491	STIL	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	6491	STIL	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	6491	STIL	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	6491	STIL	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	2619	GAS1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	2619	GAS1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	2619	GAS1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	2619	GAS1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	84976	DISP1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	84976	DISP1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	84976	DISP1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	84976	DISP1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	2736	GLI2	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	2736	GLI2	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	2736	GLI2	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	2736	GLI2	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	8928	FOXH1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	8928	FOXH1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	8928	FOXH1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	8928	FOXH1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	5727	PTCH1	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	5727	PTCH1	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	5727	PTCH1	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	5727	PTCH1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	50937	CDON	ORPHA:220386
HP:0011025	Abnormal cardiovascular system physiology	50937	CDON	ORPHA:93926
HP:0011025	Abnormal cardiovascular system physiology	50937	CDON	ORPHA:93924
HP:0011025	Abnormal cardiovascular system physiology	50937	CDON	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	23007	PLCH1	ORPHA:93925
HP:0011025	Abnormal cardiovascular system physiology	2581	GALC	ORPHA:206436
HP:0011025	Abnormal cardiovascular system physiology	5660	PSAP	ORPHA:206436
HP:0011025	Abnormal cardiovascular system physiology	8567	MADD	OMIM:619004
HP:0011025	Abnormal cardiovascular system physiology	8567	MADD	OMIM:619005
HP:0011025	Abnormal cardiovascular system physiology	8929	PHOX2B	OMIM:209880
HP:0011025	Abnormal cardiovascular system physiology	79188	TMEM43	OMIM:604400
HP:0011025	Abnormal cardiovascular system physiology	1000	CDH2	OMIM:618920
HP:0011025	Abnormal cardiovascular system physiology	5336	PLCG2	OMIM:614468
HP:0011025	Abnormal cardiovascular system physiology	3752	KCND3	OMIM:616399
HP:0011025	Abnormal cardiovascular system physiology	23118	TAB2	OMIM:614980
HP:0011025	Abnormal cardiovascular system physiology	7414	VCL	OMIM:613255
HP:0011025	Abnormal cardiovascular system physiology	7026	NR2F2	OMIM:615779
HP:0011025	Abnormal cardiovascular system physiology	2657	GDF1	OMIM:613854
HP:0011025	Abnormal cardiovascular system physiology	79709	COLGALT1	OMIM:618360
HP:0011025	Abnormal cardiovascular system physiology	4668	NAGA	OMIM:609242
HP:0011025	Abnormal cardiovascular system physiology	5286	PIK3C2A	OMIM:618440
HP:0011025	Abnormal cardiovascular system physiology	9531	BAG3	OMIM:613881
HP:0011025	Abnormal cardiovascular system physiology	2218	FKTN	OMIM:611615
HP:0011025	Abnormal cardiovascular system physiology	1725	DHPS	OMIM:618480
HP:0011025	Abnormal cardiovascular system physiology	58528	RRAGD	OMIM:620152
HP:0011025	Abnormal cardiovascular system physiology	92002	CCNQ	OMIM:300707
HP:0011025	Abnormal cardiovascular system physiology	1314	COPA	OMIM:616414
HP:0011025	Abnormal cardiovascular system physiology	9056	SLC7A7	OMIM:222700
HP:0011025	Abnormal cardiovascular system physiology	10559	SLC35A1	ORPHA:238459
HP:0011025	Abnormal cardiovascular system physiology	10559	SLC35A1	OMIM:603585
HP:0011025	Abnormal cardiovascular system physiology	10664	CTCF	ORPHA:363611
HP:0011025	Abnormal cardiovascular system physiology	57169	ZNFX1	OMIM:619644
HP:0011025	Abnormal cardiovascular system physiology	3431	SP110	ORPHA:79124
HP:0011025	Abnormal cardiovascular system physiology	23299	BICD2	OMIM:618291
HP:0011025	Abnormal cardiovascular system physiology	2639	GCDH	ORPHA:25
HP:0011025	Abnormal cardiovascular system physiology	1785	DNM2	OMIM:615368
HP:0011025	Abnormal cardiovascular system physiology	1161	ERCC8	ORPHA:90324
HP:0011025	Abnormal cardiovascular system physiology	2074	ERCC6	ORPHA:90324
HP:0011025	Abnormal cardiovascular system physiology	3703	STT3A	OMIM:619714
HP:0011025	Abnormal cardiovascular system physiology	8241	RBM10	OMIM:311900
HP:0011025	Abnormal cardiovascular system physiology	10526	IPO8	OMIM:619472
HP:0011025	Abnormal cardiovascular system physiology	101929726	MYMX	ORPHA:1358
HP:0011025	Abnormal cardiovascular system physiology	55249	YY1AP1	OMIM:602531
HP:0011025	Abnormal cardiovascular system physiology	6804	STX1A	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	7461	CLIP2	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	84277	DNAJC30	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	8468	FKBP6	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	5982	RFC2	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	2969	GTF2I	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	3984	LIMK1	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	9569	GTF2IRD1	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	155382	VPS37D	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	155368	METTL27	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	114049	BUD23	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	7458	EIF4H	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	84163	GTF2IRD2	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	9275	BCL7B	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	26608	TBL2	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	653361	NCF1	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	135886	TMEM270	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	51085	MLXIPL	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	9031	BAZ1B	ORPHA:904
HP:0011025	Abnormal cardiovascular system physiology	6772	STAT1	ORPHA:391487
HP:0011025	Abnormal cardiovascular system physiology	10043	TOM1	ORPHA:391487
HP:0011025	Abnormal cardiovascular system physiology	9896	FIG4	ORPHA:3472
HP:0011025	Abnormal cardiovascular system physiology	55697	VAC14	ORPHA:3472
HP:0011025	Abnormal cardiovascular system physiology	64131	XYLT1	OMIM:264800
HP:0011025	Abnormal cardiovascular system physiology	64132	XYLT2	OMIM:264800
HP:0011025	Abnormal cardiovascular system physiology	368	ABCC6	OMIM:264800
HP:0011025	Abnormal cardiovascular system physiology	4763	NF1	ORPHA:97685
HP:0011025	Abnormal cardiovascular system physiology	4247	MGAT2	ORPHA:79329
HP:0011026	Aplasia/Hypoplasia of the vagina	2625	GATA3	OMIM:146255
HP:0011026	Aplasia/Hypoplasia of the vagina	5518	PPP2R1A	ORPHA:457284
HP:0011026	Aplasia/Hypoplasia of the vagina	5077	PAX3	OMIM:193500
HP:0011026	Aplasia/Hypoplasia of the vagina	1528	CYB5A	ORPHA:90796
HP:0011026	Aplasia/Hypoplasia of the vagina	1586	CYP17A1	ORPHA:90796
HP:0011026	Aplasia/Hypoplasia of the vagina	54361	WNT4	ORPHA:3109
HP:0011026	Aplasia/Hypoplasia of the vagina	6662	SOX9	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	6845	VAMP7	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	51741	WWOX	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	4214	MAP3K1	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	2516	NR5A1	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	7490	WT1	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	58524	DMRT3	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	57647	DHX37	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	6736	SRY	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	23414	ZFPM2	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	190	NR0B1	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	2626	GATA4	ORPHA:251510
HP:0011026	Aplasia/Hypoplasia of the vagina	1584	CYP11B1	OMIM:202010
HP:0011026	Aplasia/Hypoplasia of the vagina	3664	IRF6	OMIM:119500
HP:0011026	Aplasia/Hypoplasia of the vagina	145173	B3GLCT	OMIM:261540
HP:0011026	Aplasia/Hypoplasia of the vagina	2737	GLI3	ORPHA:672
HP:0011027	Abnormal fallopian tube morphology	367	AR	ORPHA:99429
HP:0011027	Abnormal fallopian tube morphology	80067	DCAF17	OMIM:241080
HP:0011027	Abnormal fallopian tube morphology	80067	DCAF17	ORPHA:3464
HP:0011027	Abnormal fallopian tube morphology	7473	WNT3	OMIM:273395
HP:0011027	Abnormal fallopian tube morphology	50846	DHH	OMIM:233420
HP:0011027	Abnormal fallopian tube morphology	672	BRCA1	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	7157	TP53	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	5892	RAD51D	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	675	BRCA2	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	5728	PTEN	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	10111	RAD50	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	580	BARD1	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	5888	RAD51	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	4683	NBN	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	5889	RAD51C	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	83990	BRIP1	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	4361	MRE11	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	79728	PALB2	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	11200	CHEK2	ORPHA:145
HP:0011027	Abnormal fallopian tube morphology	219844	HYLS1	ORPHA:2189
HP:0011027	Abnormal fallopian tube morphology	374654	KIF7	ORPHA:2189
HP:0011027	Abnormal fallopian tube morphology	7490	WT1	ORPHA:3097
HP:0011027	Abnormal fallopian tube morphology	2187	FANCB	ORPHA:3412
HP:0011027	Abnormal fallopian tube morphology	54539	NDUFB11	ORPHA:2556
HP:0011027	Abnormal fallopian tube morphology	1349	COX7B	ORPHA:2556
HP:0011027	Abnormal fallopian tube morphology	3052	HCCS	ORPHA:2556
HP:0011027	Abnormal fallopian tube morphology	5340	PLG	ORPHA:722
HP:0011027	Abnormal fallopian tube morphology	54361	WNT4	OMIM:158330
HP:0011028	Abnormality of blood circulation	2639	GCDH	ORPHA:25
HP:0011028	Abnormality of blood circulation	3458	IFNG	ORPHA:88
HP:0011028	Abnormality of blood circulation	5551	PRF1	ORPHA:88
HP:0011028	Abnormality of blood circulation	7012	TERC	ORPHA:88
HP:0011028	Abnormality of blood circulation	51119	SBDS	ORPHA:88
HP:0011028	Abnormality of blood circulation	11277	TREX1	OMIM:192315
HP:0011028	Abnormality of blood circulation	5167	ENPP1	ORPHA:51608
HP:0011028	Abnormality of blood circulation	5167	ENPP1	ORPHA:758
HP:0011028	Abnormality of blood circulation	1161	ERCC8	ORPHA:90324
HP:0011028	Abnormality of blood circulation	2074	ERCC6	ORPHA:90324
HP:0011028	Abnormality of blood circulation	3913	LAMB2	OMIM:609049
HP:0011028	Abnormality of blood circulation	4615	MYD88	ORPHA:33226
HP:0011028	Abnormality of blood circulation	64131	XYLT1	OMIM:264800
HP:0011028	Abnormality of blood circulation	64132	XYLT2	OMIM:264800
HP:0011028	Abnormality of blood circulation	1785	DNM2	OMIM:615368
HP:0011028	Abnormality of blood circulation	667	DST	OMIM:614653
HP:0011028	Abnormality of blood circulation	1471	CST3	OMIM:105150
HP:0011028	Abnormality of blood circulation	1471	CST3	ORPHA:100008
HP:0011028	Abnormality of blood circulation	3717	JAK2	OMIM:133100
HP:0011028	Abnormality of blood circulation	3717	JAK2	OMIM:263300
HP:0011028	Abnormality of blood circulation	10019	SH2B3	OMIM:133100
HP:0011028	Abnormality of blood circulation	2057	EPOR	OMIM:133100
HP:0011028	Abnormality of blood circulation	7428	VHL	OMIM:263400
HP:0011028	Abnormality of blood circulation	7428	VHL	OMIM:171300
HP:0011028	Abnormality of blood circulation	7428	VHL	ORPHA:29072
HP:0011028	Abnormality of blood circulation	7428	VHL	ORPHA:276621
HP:0011028	Abnormality of blood circulation	2132	EXT2	OMIM:616682
HP:0011028	Abnormality of blood circulation	2677	GGCX	OMIM:277450
HP:0011028	Abnormality of blood circulation	55654	TMEM127	OMIM:171300
HP:0011028	Abnormality of blood circulation	55654	TMEM127	ORPHA:29072
HP:0011028	Abnormality of blood circulation	5979	RET	OMIM:171300
HP:0011028	Abnormality of blood circulation	5979	RET	ORPHA:29072
HP:0011028	Abnormality of blood circulation	5979	RET	ORPHA:276621
HP:0011028	Abnormality of blood circulation	6390	SDHB	OMIM:171300
HP:0011028	Abnormality of blood circulation	6390	SDHB	ORPHA:29072
HP:0011028	Abnormality of blood circulation	6390	SDHB	ORPHA:276621
HP:0011028	Abnormality of blood circulation	6392	SDHD	OMIM:171300
HP:0011028	Abnormality of blood circulation	6392	SDHD	ORPHA:29072
HP:0011028	Abnormality of blood circulation	6392	SDHD	ORPHA:276621
HP:0011028	Abnormality of blood circulation	4149	MAX	OMIM:171300
HP:0011028	Abnormality of blood circulation	4149	MAX	ORPHA:29072
HP:0011028	Abnormality of blood circulation	1743	DLST	ORPHA:29072
HP:0011028	Abnormality of blood circulation	4191	MDH2	ORPHA:29072
HP:0011028	Abnormality of blood circulation	6389	SDHA	ORPHA:29072
HP:0011028	Abnormality of blood circulation	23095	KIF1B	ORPHA:29072
HP:0011028	Abnormality of blood circulation	2271	FH	ORPHA:29072
HP:0011028	Abnormality of blood circulation	8402	SLC25A11	ORPHA:29072
HP:0011028	Abnormality of blood circulation	54949	SDHAF2	ORPHA:29072
HP:0011028	Abnormality of blood circulation	4763	NF1	ORPHA:29072
HP:0011028	Abnormality of blood circulation	6391	SDHC	ORPHA:29072
HP:0011028	Abnormality of blood circulation	8314	BAP1	ORPHA:2495
HP:0011028	Abnormality of blood circulation	4771	NF2	ORPHA:2495
HP:0011028	Abnormality of blood circulation	6598	SMARCB1	ORPHA:2495
HP:0011028	Abnormality of blood circulation	5155	PDGFB	ORPHA:2495
HP:0011028	Abnormality of blood circulation	84231	TRAF7	ORPHA:2495
HP:0011028	Abnormality of blood circulation	6608	SMO	ORPHA:2495
HP:0011028	Abnormality of blood circulation	207	AKT1	ORPHA:2495
HP:0011028	Abnormality of blood circulation	5290	PIK3CA	ORPHA:2495
HP:0011028	Abnormality of blood circulation	7015	TERT	ORPHA:2495
HP:0011028	Abnormality of blood circulation	51684	SUFU	ORPHA:2495
HP:0011028	Abnormality of blood circulation	6605	SMARCE1	ORPHA:2495
HP:0011028	Abnormality of blood circulation	8517	IKBKG	OMIM:301081
HP:0011028	Abnormality of blood circulation	1282	COL4A1	OMIM:175780
HP:0011028	Abnormality of blood circulation	2335	FN1	ORPHA:84090
HP:0011028	Abnormality of blood circulation	11235	PDCD10	OMIM:603285
HP:0011028	Abnormality of blood circulation	11235	PDCD10	ORPHA:221061
HP:0011028	Abnormality of blood circulation	83605	CCM2	OMIM:603284
HP:0011028	Abnormality of blood circulation	83605	CCM2	ORPHA:221061
HP:0011028	Abnormality of blood circulation	2243	FGA	ORPHA:98880
HP:0011028	Abnormality of blood circulation	2244	FGB	ORPHA:98880
HP:0011028	Abnormality of blood circulation	2266	FGG	ORPHA:98880
HP:0011028	Abnormality of blood circulation	889	KRIT1	ORPHA:221061
HP:0011028	Abnormality of blood circulation	368	ABCC6	OMIM:177850
HP:0011028	Abnormality of blood circulation	2316	FLNA	OMIM:300049
HP:0011028	Abnormality of blood circulation	3075	CFH	ORPHA:244242
HP:0011028	Abnormality of blood circulation	3426	CFI	ORPHA:244242
HP:0011028	Abnormality of blood circulation	4179	CD46	ORPHA:244242
HP:0011028	Abnormality of blood circulation	101101692	HELLPAR	ORPHA:244242
HP:0011028	Abnormality of blood circulation	5627	PROS1	OMIM:614514
HP:0011028	Abnormality of blood circulation	2165	F13B	ORPHA:331
HP:0011028	Abnormality of blood circulation	2162	F13A1	ORPHA:331
HP:0011028	Abnormality of blood circulation	4854	NOTCH3	ORPHA:136
HP:0011028	Abnormality of blood circulation	51816	ADA2	OMIM:182410
HP:0011028	Abnormality of blood circulation	442721	LMOD2	OMIM:619897
HP:0011028	Abnormality of blood circulation	11274	USP18	OMIM:617397
HP:0011028	Abnormality of blood circulation	727676	SNORD118	ORPHA:542310
HP:0011028	Abnormality of blood circulation	6773	STAT2	OMIM:618886
HP:0011028	Abnormality of blood circulation	79184	BRCC3	ORPHA:280679
HP:0011028	Abnormality of blood circulation	1788	DNMT3A	ORPHA:276621
HP:0011028	Abnormality of blood circulation	2034	EPAS1	ORPHA:276621
HP:0011028	Abnormality of blood circulation	9103	FCGR2C	ORPHA:3002
HP:0011028	Abnormality of blood circulation	94	ACVRL1	OMIM:600376
HP:0011028	Abnormality of blood circulation	2294	FOXF1	OMIM:265380
HP:0011028	Abnormality of blood circulation	2022	ENG	OMIM:187300
HP:0011028	Abnormality of blood circulation	7092	TLL1	ORPHA:99106
HP:0011028	Abnormality of blood circulation	2658	GDF2	ORPHA:774
HP:0011028	Abnormality of blood circulation	4089	SMAD4	ORPHA:774
HP:0011028	Abnormality of blood circulation	4089	SMAD4	ORPHA:91387
HP:0011028	Abnormality of blood circulation	2548	GAA	OMIM:232300
HP:0011028	Abnormality of blood circulation	4088	SMAD3	OMIM:613795
HP:0011028	Abnormality of blood circulation	4088	SMAD3	ORPHA:91387
HP:0011028	Abnormality of blood circulation	5921	RASA1	ORPHA:90307
HP:0011028	Abnormality of blood circulation	2159	F10	ORPHA:328
HP:0011028	Abnormality of blood circulation	351	APP	OMIM:605714
HP:0011028	Abnormality of blood circulation	81704	DOCK8	OMIM:243700
HP:0011028	Abnormality of blood circulation	6786	STIM1	OMIM:185070
HP:0011028	Abnormality of blood circulation	55901	THSD1	OMIM:618734
HP:0011028	Abnormality of blood circulation	55901	THSD1	ORPHA:231160
HP:0011028	Abnormality of blood circulation	4629	MYH11	ORPHA:91387
HP:0011028	Abnormality of blood circulation	7046	TGFBR1	ORPHA:91387
HP:0011028	Abnormality of blood circulation	7048	TGFBR2	ORPHA:91387
HP:0011028	Abnormality of blood circulation	4015	LOX	ORPHA:91387
HP:0011028	Abnormality of blood circulation	4087	SMAD2	ORPHA:91387
HP:0011028	Abnormality of blood circulation	7043	TGFB3	ORPHA:91387
HP:0011028	Abnormality of blood circulation	7042	TGFB2	ORPHA:91387
HP:0011028	Abnormality of blood circulation	2200	FBN1	ORPHA:91387
HP:0011028	Abnormality of blood circulation	59	ACTA2	ORPHA:91387
HP:0011028	Abnormality of blood circulation	5592	PRKG1	ORPHA:91387
HP:0011028	Abnormality of blood circulation	2301	FOXE3	ORPHA:91387
HP:0011028	Abnormality of blood circulation	4144	MAT2A	ORPHA:91387
HP:0011028	Abnormality of blood circulation	23493	HEY2	ORPHA:91387
HP:0011028	Abnormality of blood circulation	8076	MFAP5	ORPHA:91387
HP:0011028	Abnormality of blood circulation	4638	MYLK	ORPHA:91387
HP:0011028	Abnormality of blood circulation	2006	ELN	ORPHA:91387
HP:0011028	Abnormality of blood circulation	2811	GP1BA	ORPHA:853
HP:0011028	Abnormality of blood circulation	2812	GP1BB	ORPHA:853
HP:0011028	Abnormality of blood circulation	3674	ITGA2B	ORPHA:853
HP:0011028	Abnormality of blood circulation	3673	ITGA2	ORPHA:853
HP:0011028	Abnormality of blood circulation	135228	CD109	ORPHA:853
HP:0011028	Abnormality of blood circulation	3690	ITGB3	ORPHA:853
HP:0011028	Abnormality of blood circulation	7049	TGFBR3	ORPHA:231160
HP:0011028	Abnormality of blood circulation	83854	ANGPTL6	ORPHA:231160
HP:0011028	Abnormality of blood circulation	1798	DPAGT1	ORPHA:86309
HP:0011028	Abnormality of blood circulation	54809	SAMD9	OMIM:617053
HP:0011028	Abnormality of blood circulation	2629	GBA1	ORPHA:85212
HP:0011028	Abnormality of blood circulation	65062	TMEM237	OMIM:614424
HP:0011028	Abnormality of blood circulation	2624	GATA2	ORPHA:3226
HP:0011028	Abnormality of blood circulation	4000	LMNA	ORPHA:740
HP:0011028	Abnormality of blood circulation	4000	LMNA	ORPHA:363618
HP:0011028	Abnormality of blood circulation	10269	ZMPSTE24	ORPHA:740
HP:0011028	Abnormality of blood circulation	249	ALPL	OMIM:241500
HP:0011028	Abnormality of blood circulation	1584	CYP11B1	ORPHA:90795
HP:0011028	Abnormality of blood circulation	1584	CYP11B1	ORPHA:403
HP:0011028	Abnormality of blood circulation	5373	PMM2	ORPHA:79318
HP:0011028	Abnormality of blood circulation	1284	COL4A2	OMIM:614483
HP:0011028	Abnormality of blood circulation	340665	CYP26C1	ORPHA:398189
HP:0011028	Abnormality of blood circulation	1181	CLCN2	ORPHA:404
HP:0011028	Abnormality of blood circulation	1585	CYP11B2	ORPHA:403
HP:0011028	Abnormality of blood circulation	776	CACNA1D	ORPHA:369929
HP:0011028	Abnormality of blood circulation	25942	SIN3A	OMIM:613406
HP:0011028	Abnormality of blood circulation	3762	KCNJ5	ORPHA:251274
HP:0011028	Abnormality of blood circulation	171023	ASXL1	ORPHA:98850
HP:0011028	Abnormality of blood circulation	54790	TET2	ORPHA:98850
HP:0011028	Abnormality of blood circulation	54790	TET2	ORPHA:729
HP:0011028	Abnormality of blood circulation	867	CBL	ORPHA:98850
HP:0011028	Abnormality of blood circulation	861	RUNX1	ORPHA:98850
HP:0011028	Abnormality of blood circulation	6427	SRSF2	ORPHA:98850
HP:0011028	Abnormality of blood circulation	875	CBS	ORPHA:394
HP:0011028	Abnormality of blood circulation	2815	GP9	ORPHA:274
HP:0011028	Abnormality of blood circulation	2815	GP9	OMIM:231200
HP:0011028	Abnormality of blood circulation	229	ALDOB	OMIM:229600
HP:0011028	Abnormality of blood circulation	5351	PLOD1	OMIM:225400
HP:0011028	Abnormality of blood circulation	7148	TNXB	ORPHA:230839
HP:0011028	Abnormality of blood circulation	80270	HSD3B7	ORPHA:79301
HP:0011028	Abnormality of blood circulation	4072	EPCAM	ORPHA:144
HP:0011028	Abnormality of blood circulation	4292	MLH1	ORPHA:144
HP:0011028	Abnormality of blood circulation	5395	PMS2	ORPHA:144
HP:0011028	Abnormality of blood circulation	27030	MLH3	ORPHA:144
HP:0011028	Abnormality of blood circulation	22909	FAN1	ORPHA:144
HP:0011028	Abnormality of blood circulation	3845	KRAS	ORPHA:144
HP:0011028	Abnormality of blood circulation	2956	MSH6	ORPHA:144
HP:0011028	Abnormality of blood circulation	5378	PMS1	ORPHA:144
HP:0011028	Abnormality of blood circulation	4436	MSH2	ORPHA:144
HP:0011028	Abnormality of blood circulation	4609	MYC	ORPHA:543
HP:0011028	Abnormality of blood circulation	64218	SEMA4A	ORPHA:440437
HP:0011028	Abnormality of blood circulation	6224	RPS20	ORPHA:440437
HP:0011028	Abnormality of blood circulation	843	CASP10	OMIM:603909
HP:0011028	Abnormality of blood circulation	7248	TSC1	ORPHA:538
HP:0011028	Abnormality of blood circulation	7249	TSC2	ORPHA:538
HP:0011028	Abnormality of blood circulation	3106	HLA-B	ORPHA:36426
HP:0011028	Abnormality of blood circulation	3106	HLA-B	ORPHA:117
HP:0011028	Abnormality of blood circulation	10320	IKZF1	ORPHA:36426
HP:0011028	Abnormality of blood circulation	3930	LBR	OMIM:613471
HP:0011028	Abnormality of blood circulation	4352	MPL	ORPHA:729
HP:0011028	Abnormality of blood circulation	7132	TNFRSF1A	OMIM:142680
HP:0011028	Abnormality of blood circulation	55109	AGGF1	ORPHA:90308
HP:0011028	Abnormality of blood circulation	1312	COMT	ORPHA:567
HP:0011028	Abnormality of blood circulation	221037	JMJD1C	ORPHA:567
HP:0011028	Abnormality of blood circulation	6239	RREB1	ORPHA:567
HP:0011028	Abnormality of blood circulation	6899	TBX1	ORPHA:567
HP:0011028	Abnormality of blood circulation	7290	HIRA	ORPHA:567
HP:0011028	Abnormality of blood circulation	9632	SEC24C	ORPHA:567
HP:0011028	Abnormality of blood circulation	7353	UFD1	ORPHA:567
HP:0011028	Abnormality of blood circulation	421	ARVCF	ORPHA:567
HP:0011028	Abnormality of blood circulation	3248	HPGD	ORPHA:2796
HP:0011028	Abnormality of blood circulation	6578	SLCO2A1	ORPHA:2796
HP:0011028	Abnormality of blood circulation	22827	PUF60	ORPHA:508488
HP:0011028	Abnormality of blood circulation	538	ATP7A	ORPHA:565
HP:0011028	Abnormality of blood circulation	1493	CTLA4	ORPHA:900
HP:0011028	Abnormality of blood circulation	26191	PTPN22	ORPHA:900
HP:0011028	Abnormality of blood circulation	3115	HLA-DPB1	ORPHA:900
HP:0011028	Abnormality of blood circulation	5657	PRTN3	ORPHA:900
HP:0011028	Abnormality of blood circulation	3113	HLA-DPA1	ORPHA:900
HP:0011028	Abnormality of blood circulation	493856	CISD2	ORPHA:3463
HP:0011028	Abnormality of blood circulation	7466	WFS1	ORPHA:3463
HP:0011028	Abnormality of blood circulation	4598	MVK	ORPHA:343
HP:0011028	Abnormality of blood circulation	79991	STN1	OMIM:617341
HP:0011028	Abnormality of blood circulation	11231	SEC63	ORPHA:2924
HP:0011028	Abnormality of blood circulation	5589	PRKCSH	ORPHA:2924
HP:0011028	Abnormality of blood circulation	10165	SLC25A13	ORPHA:247598
HP:0011028	Abnormality of blood circulation	3662	IRF4	ORPHA:3452
HP:0011028	Abnormality of blood circulation	3516	RBPJ	ORPHA:974
HP:0011028	Abnormality of blood circulation	4851	NOTCH1	ORPHA:974
HP:0011028	Abnormality of blood circulation	57514	ARHGAP31	ORPHA:974
HP:0011028	Abnormality of blood circulation	57572	DOCK6	ORPHA:974
HP:0011028	Abnormality of blood circulation	285203	EOGT	ORPHA:974
HP:0011028	Abnormality of blood circulation	54567	DLL4	ORPHA:974
HP:0011028	Abnormality of blood circulation	199221	DZIP1L	ORPHA:731
HP:0011028	Abnormality of blood circulation	5314	PKHD1	ORPHA:731
HP:0011028	Abnormality of blood circulation	4351	MPI	ORPHA:79319
HP:0011028	Abnormality of blood circulation	811	CALR	ORPHA:131
HP:0011028	Abnormality of blood circulation	5156	PDGFRA	ORPHA:44890
HP:0011028	Abnormality of blood circulation	3815	KIT	ORPHA:44890
HP:0011028	Abnormality of blood circulation	79651	RHBDF2	ORPHA:2198
HP:0011028	Abnormality of blood circulation	2184	FAH	OMIM:276700
HP:0011028	Abnormality of blood circulation	8328	GFI1B	OMIM:187900
HP:0011028	Abnormality of blood circulation	149233	IL23R	ORPHA:117
HP:0011028	Abnormality of blood circulation	6775	STAT4	ORPHA:117
HP:0011028	Abnormality of blood circulation	3586	IL10	ORPHA:117
HP:0011028	Abnormality of blood circulation	4210	MEFV	ORPHA:117
HP:0011028	Abnormality of blood circulation	1230	CCR1	ORPHA:117
HP:0011028	Abnormality of blood circulation	355	FAS	ORPHA:117
HP:0011028	Abnormality of blood circulation	3592	IL12A	ORPHA:117
HP:0011028	Abnormality of blood circulation	101928376	IL12A-AS1	ORPHA:117
HP:0011028	Abnormality of blood circulation	7099	TLR4	ORPHA:117
HP:0011028	Abnormality of blood circulation	3459	IFNGR1	ORPHA:117
HP:0011028	Abnormality of blood circulation	720	C4A	ORPHA:117
HP:0011028	Abnormality of blood circulation	337867	UBAC2	ORPHA:117
HP:0011028	Abnormality of blood circulation	51752	ERAP1	ORPHA:117
HP:0011028	Abnormality of blood circulation	8302	KLRC4	ORPHA:117
HP:0011028	Abnormality of blood circulation	9968	MED12	OMIM:301068
HP:0011028	Abnormality of blood circulation	6720	SREBF1	OMIM:158310
HP:0011028	Abnormality of blood circulation	9493	KIF23	ORPHA:98870
HP:0011028	Abnormality of blood circulation	29127	RACGAP1	ORPHA:98870
HP:0011028	Abnormality of blood circulation	4221	MEN1	ORPHA:652
HP:0011028	Abnormality of blood circulation	1027	CDKN1B	ORPHA:652
HP:0011028	Abnormality of blood circulation	1026	CDKN1A	ORPHA:652
HP:0011028	Abnormality of blood circulation	1030	CDKN2B	ORPHA:652
HP:0011028	Abnormality of blood circulation	1031	CDKN2C	ORPHA:652
HP:0011028	Abnormality of blood circulation	1616	DAXX	ORPHA:100075
HP:0011028	Abnormality of blood circulation	546	ATRX	ORPHA:100075
HP:0011028	Abnormality of blood circulation	83483	PLVAP	OMIM:618183
HP:0011028	Abnormality of blood circulation	57551	TAOK1	OMIM:619575
HP:0011028	Abnormality of blood circulation	57217	TTC7A	OMIM:243150
HP:0011028	Abnormality of blood circulation	26585	GREM1	ORPHA:157794
HP:0011028	Abnormality of blood circulation	10616	RBCK1	OMIM:615895
HP:0011028	Abnormality of blood circulation	3257	HPS1	OMIM:203300
HP:0011028	Abnormality of blood circulation	9420	CYP7B1	OMIM:613812
HP:0011028	Abnormality of blood circulation	23600	AMACR	OMIM:214950
HP:0011028	Abnormality of blood circulation	23600	AMACR	ORPHA:79095
HP:0011028	Abnormality of blood circulation	64135	IFIH1	OMIM:615846
HP:0011028	Abnormality of blood circulation	3587	IL10RA	OMIM:613148
HP:0011028	Abnormality of blood circulation	324	APC	ORPHA:261584
HP:0011028	Abnormality of blood circulation	80169	CTC1	OMIM:612199
HP:0011028	Abnormality of blood circulation	7010	TEK	ORPHA:1059
HP:0011028	Abnormality of blood circulation	7010	TEK	OMIM:600195
HP:0011028	Abnormality of blood circulation	6794	STK11	OMIM:175200
HP:0011028	Abnormality of blood circulation	5728	PTEN	ORPHA:79076
HP:0011028	Abnormality of blood circulation	657	BMPR1A	ORPHA:79076
HP:0011028	Abnormality of blood circulation	2157	F8	ORPHA:177926
HP:0011028	Abnormality of blood circulation	2157	F8	ORPHA:169805
HP:0011028	Abnormality of blood circulation	2157	F8	ORPHA:169802
HP:0011028	Abnormality of blood circulation	2157	F8	OMIM:306700
HP:0011028	Abnormality of blood circulation	5345	SERPINF2	OMIM:262850
HP:0011028	Abnormality of blood circulation	5345	SERPINF2	ORPHA:79
HP:0011028	Abnormality of blood circulation	7450	VWF	OMIM:193400
HP:0011028	Abnormality of blood circulation	7450	VWF	OMIM:277480
HP:0011028	Abnormality of blood circulation	2155	F7	OMIM:227500
HP:0011028	Abnormality of blood circulation	2155	F7	ORPHA:327
HP:0011028	Abnormality of blood circulation	2147	F2	OMIM:613679
HP:0011028	Abnormality of blood circulation	2147	F2	ORPHA:325
HP:0011028	Abnormality of blood circulation	2160	F11	ORPHA:329
HP:0011028	Abnormality of blood circulation	2153	F5	ORPHA:326
HP:0011028	Abnormality of blood circulation	2158	F9	OMIM:306900
HP:0011028	Abnormality of blood circulation	5054	SERPINE1	ORPHA:465
HP:0011028	Abnormality of blood circulation	3998	LMAN1	ORPHA:35909
HP:0011028	Abnormality of blood circulation	90411	MCFD2	ORPHA:35909
HP:0011028	Abnormality of blood circulation	5328	PLAU	OMIM:601709
HP:0011028	Abnormality of blood circulation	7454	WAS	OMIM:313900
HP:0011028	Abnormality of blood circulation	7456	WIPF1	ORPHA:906
HP:0011028	Abnormality of blood circulation	1376	CPT2	OMIM:608836
HP:0011028	Abnormality of blood circulation	54820	NDE1	ORPHA:2177
HP:0011028	Abnormality of blood circulation	8322	FZD4	OMIM:133780
HP:0011028	Abnormality of blood circulation	8322	FZD4	ORPHA:891
HP:0011028	Abnormality of blood circulation	8322	FZD4	ORPHA:90050
HP:0011028	Abnormality of blood circulation	4041	LRP5	OMIM:133780
HP:0011028	Abnormality of blood circulation	4041	LRP5	ORPHA:891
HP:0011028	Abnormality of blood circulation	4041	LRP5	ORPHA:90050
HP:0011028	Abnormality of blood circulation	4041	LRP5	OMIM:601813
HP:0011028	Abnormality of blood circulation	4693	NDP	ORPHA:891
HP:0011028	Abnormality of blood circulation	4693	NDP	ORPHA:90050
HP:0011028	Abnormality of blood circulation	1499	CTNNB1	ORPHA:891
HP:0011028	Abnormality of blood circulation	23554	TSPAN12	ORPHA:891
HP:0011028	Abnormality of blood circulation	79797	ZNF408	ORPHA:891
HP:0011028	Abnormality of blood circulation	726	CAPN5	OMIM:193235
HP:0011028	Abnormality of blood circulation	7439	BEST1	OMIM:193220
HP:0011028	Abnormality of blood circulation	5624	PROC	OMIM:612304
HP:0011028	Abnormality of blood circulation	6247	RS1	OMIM:312700
HP:0011028	Abnormality of blood circulation	5925	RB1	OMIM:180200
HP:0011028	Abnormality of blood circulation	57105	CYSLTR2	ORPHA:39044
HP:0011028	Abnormality of blood circulation	2776	GNAQ	ORPHA:39044
HP:0011028	Abnormality of blood circulation	2767	GNA11	ORPHA:39044
HP:0011028	Abnormality of blood circulation	23451	SF3B1	ORPHA:39044
HP:0011028	Abnormality of blood circulation	23137	SMC5	OMIM:620185
HP:0011028	Abnormality of blood circulation	554	AVPR2	ORPHA:223
HP:0011028	Abnormality of blood circulation	359	AQP2	ORPHA:223
HP:0011028	Abnormality of blood circulation	1583	CYP11A1	ORPHA:289548
HP:0011028	Abnormality of blood circulation	1583	CYP11A1	ORPHA:168558
HP:0011028	Abnormality of blood circulation	6809	STX3	ORPHA:2290
HP:0011028	Abnormality of blood circulation	4645	MYO5B	ORPHA:2290
HP:0011028	Abnormality of blood circulation	1497	CTNS	ORPHA:411634
HP:0011028	Abnormality of blood circulation	2492	FSHR	ORPHA:64739
HP:0011028	Abnormality of blood circulation	3767	KCNJ11	ORPHA:99885
HP:0011028	Abnormality of blood circulation	2645	GCK	ORPHA:99885
HP:0011028	Abnormality of blood circulation	3651	PDX1	ORPHA:99885
HP:0011028	Abnormality of blood circulation	6833	ABCC8	ORPHA:99885
HP:0011028	Abnormality of blood circulation	3630	INS	ORPHA:99885
HP:0011028	Abnormality of blood circulation	3712	IVD	OMIM:243500
HP:0011028	Abnormality of blood circulation	28976	ACAD9	ORPHA:99901
HP:0011028	Abnormality of blood circulation	4594	MMUT	OMIM:251000
HP:0011028	Abnormality of blood circulation	5095	PCCA	OMIM:606054
HP:0011028	Abnormality of blood circulation	5096	PCCB	OMIM:606054
HP:0011028	Abnormality of blood circulation	220202	ATOH7	ORPHA:91495
HP:0011028	Abnormality of blood circulation	9839	ZEB2	ORPHA:261552
HP:0011028	Abnormality of blood circulation	5903	RANBP2	ORPHA:88619
HP:0011028	Abnormality of blood circulation	10095	ARPC1B	OMIM:617718
HP:0011028	Abnormality of blood circulation	57057	TBX20	ORPHA:99103
HP:0011028	Abnormality of blood circulation	4624	MYH6	ORPHA:99103
HP:0011028	Abnormality of blood circulation	1482	NKX2-5	ORPHA:99103
HP:0011028	Abnormality of blood circulation	70	ACTC1	ORPHA:99103
HP:0011028	Abnormality of blood circulation	10370	CITED2	ORPHA:99103
HP:0011028	Abnormality of blood circulation	10370	CITED2	ORPHA:99105
HP:0011028	Abnormality of blood circulation	2626	GATA4	ORPHA:99103
HP:0011028	Abnormality of blood circulation	2627	GATA6	ORPHA:99103
HP:0011028	Abnormality of blood circulation	79228	THOC6	ORPHA:363444
HP:0011028	Abnormality of blood circulation	79989	IFT56	OMIM:619534
HP:0011028	Abnormality of blood circulation	23545	ATP6V0A2	ORPHA:357074
HP:0011028	Abnormality of blood circulation	523	ATP6V1A	ORPHA:357074
HP:0011028	Abnormality of blood circulation	529	ATP6V1E1	ORPHA:357074
HP:0011028	Abnormality of blood circulation	1281	COL3A1	OMIM:130050
HP:0011028	Abnormality of blood circulation	6774	STAT3	ORPHA:520
HP:0011028	Abnormality of blood circulation	5371	PML	ORPHA:520
HP:0011028	Abnormality of blood circulation	5914	RARA	ORPHA:520
HP:0011028	Abnormality of blood circulation	359948	IRF2BP2	ORPHA:520
HP:0011028	Abnormality of blood circulation	81608	FIP1L1	ORPHA:520
HP:0011028	Abnormality of blood circulation	4869	NPM1	ORPHA:520
HP:0011028	Abnormality of blood circulation	5573	PRKAR1A	ORPHA:520
HP:0011028	Abnormality of blood circulation	54880	BCOR	ORPHA:520
HP:0011028	Abnormality of blood circulation	64859	NABP1	ORPHA:520
HP:0011028	Abnormality of blood circulation	6777	STAT5B	ORPHA:520
HP:0011028	Abnormality of blood circulation	4926	NUMA1	ORPHA:520
HP:0011028	Abnormality of blood circulation	7704	ZBTB16	ORPHA:520
HP:0011028	Abnormality of blood circulation	79718	TBL1XR1	ORPHA:520
HP:0011028	Abnormality of blood circulation	58484	NLRC4	OMIM:616050
HP:0011028	Abnormality of blood circulation	440275	EIF2AK4	ORPHA:199241
HP:0011028	Abnormality of blood circulation	3162	HMOX1	OMIM:614034
HP:0011028	Abnormality of blood circulation	2202	EFEMP1	ORPHA:75376
HP:0011028	Abnormality of blood circulation	348	APOE	OMIM:603075
HP:0011028	Abnormality of blood circulation	83872	HMCN1	OMIM:603075
HP:0011028	Abnormality of blood circulation	3078	CFHR1	OMIM:603075
HP:0011028	Abnormality of blood circulation	10878	CFHR3	OMIM:603075
HP:0011028	Abnormality of blood circulation	4774	NFIA	ORPHA:401986
HP:0011028	Abnormality of blood circulation	55788	LMBRD1	ORPHA:79284
HP:0011028	Abnormality of blood circulation	284058	KANSL1	ORPHA:363965
HP:0011028	Abnormality of blood circulation	284058	KANSL1	ORPHA:363958
HP:0011028	Abnormality of blood circulation	6678	SPARC	OMIM:616507
HP:0011028	Abnormality of blood circulation	165918	RNF168	ORPHA:420741
HP:0011028	Abnormality of blood circulation	100131801	PET100	OMIM:619055
HP:0011028	Abnormality of blood circulation	92935	MARS2	OMIM:616430
HP:0011028	Abnormality of blood circulation	1725	DHPS	OMIM:618480
HP:0011028	Abnormality of blood circulation	1314	COPA	OMIM:616414
HP:0011028	Abnormality of blood circulation	9056	SLC7A7	OMIM:222700
HP:0011028	Abnormality of blood circulation	10559	SLC35A1	ORPHA:238459
HP:0011028	Abnormality of blood circulation	10559	SLC35A1	OMIM:603585
HP:0011028	Abnormality of blood circulation	10664	CTCF	ORPHA:363611
HP:0011028	Abnormality of blood circulation	57169	ZNFX1	OMIM:619644
HP:0011028	Abnormality of blood circulation	3431	SP110	ORPHA:79124
HP:0011028	Abnormality of blood circulation	23299	BICD2	OMIM:618291
HP:0011028	Abnormality of blood circulation	25974	MMACHC	ORPHA:79282
HP:0011028	Abnormality of blood circulation	3703	STT3A	OMIM:619714
HP:0011028	Abnormality of blood circulation	8241	RBM10	OMIM:311900
HP:0011028	Abnormality of blood circulation	10526	IPO8	OMIM:619472
HP:0011029	Internal hemorrhage	2639	GCDH	ORPHA:25
HP:0011029	Internal hemorrhage	3458	IFNG	ORPHA:88
HP:0011029	Internal hemorrhage	5551	PRF1	ORPHA:88
HP:0011029	Internal hemorrhage	7012	TERC	ORPHA:88
HP:0011029	Internal hemorrhage	51119	SBDS	ORPHA:88
HP:0011029	Internal hemorrhage	11277	TREX1	OMIM:192315
HP:0011029	Internal hemorrhage	5167	ENPP1	ORPHA:51608
HP:0011029	Internal hemorrhage	5167	ENPP1	ORPHA:758
HP:0011029	Internal hemorrhage	1161	ERCC8	ORPHA:90324
HP:0011029	Internal hemorrhage	2074	ERCC6	ORPHA:90324
HP:0011029	Internal hemorrhage	3913	LAMB2	OMIM:609049
HP:0011029	Internal hemorrhage	4615	MYD88	ORPHA:33226
HP:0011029	Internal hemorrhage	64131	XYLT1	OMIM:264800
HP:0011029	Internal hemorrhage	64132	XYLT2	OMIM:264800
HP:0011029	Internal hemorrhage	1785	DNM2	OMIM:615368
HP:0011029	Internal hemorrhage	667	DST	OMIM:614653
HP:0011029	Internal hemorrhage	1471	CST3	OMIM:105150
HP:0011029	Internal hemorrhage	1471	CST3	ORPHA:100008
HP:0011029	Internal hemorrhage	3717	JAK2	OMIM:133100
HP:0011029	Internal hemorrhage	3717	JAK2	OMIM:263300
HP:0011029	Internal hemorrhage	10019	SH2B3	OMIM:133100
HP:0011029	Internal hemorrhage	2057	EPOR	OMIM:133100
HP:0011029	Internal hemorrhage	7428	VHL	OMIM:263400
HP:0011029	Internal hemorrhage	7428	VHL	OMIM:171300
HP:0011029	Internal hemorrhage	7428	VHL	ORPHA:29072
HP:0011029	Internal hemorrhage	7428	VHL	ORPHA:276621
HP:0011029	Internal hemorrhage	2132	EXT2	OMIM:616682
HP:0011029	Internal hemorrhage	2677	GGCX	OMIM:277450
HP:0011029	Internal hemorrhage	55654	TMEM127	OMIM:171300
HP:0011029	Internal hemorrhage	55654	TMEM127	ORPHA:29072
HP:0011029	Internal hemorrhage	5979	RET	OMIM:171300
HP:0011029	Internal hemorrhage	5979	RET	ORPHA:29072
HP:0011029	Internal hemorrhage	5979	RET	ORPHA:276621
HP:0011029	Internal hemorrhage	6390	SDHB	OMIM:171300
HP:0011029	Internal hemorrhage	6390	SDHB	ORPHA:29072
HP:0011029	Internal hemorrhage	6390	SDHB	ORPHA:276621
HP:0011029	Internal hemorrhage	6392	SDHD	OMIM:171300
HP:0011029	Internal hemorrhage	6392	SDHD	ORPHA:29072
HP:0011029	Internal hemorrhage	6392	SDHD	ORPHA:276621
HP:0011029	Internal hemorrhage	4149	MAX	OMIM:171300
HP:0011029	Internal hemorrhage	4149	MAX	ORPHA:29072
HP:0011029	Internal hemorrhage	1743	DLST	ORPHA:29072
HP:0011029	Internal hemorrhage	4191	MDH2	ORPHA:29072
HP:0011029	Internal hemorrhage	6389	SDHA	ORPHA:29072
HP:0011029	Internal hemorrhage	23095	KIF1B	ORPHA:29072
HP:0011029	Internal hemorrhage	2271	FH	ORPHA:29072
HP:0011029	Internal hemorrhage	8402	SLC25A11	ORPHA:29072
HP:0011029	Internal hemorrhage	54949	SDHAF2	ORPHA:29072
HP:0011029	Internal hemorrhage	4763	NF1	ORPHA:29072
HP:0011029	Internal hemorrhage	6391	SDHC	ORPHA:29072
HP:0011029	Internal hemorrhage	8314	BAP1	ORPHA:2495
HP:0011029	Internal hemorrhage	4771	NF2	ORPHA:2495
HP:0011029	Internal hemorrhage	6598	SMARCB1	ORPHA:2495
HP:0011029	Internal hemorrhage	5155	PDGFB	ORPHA:2495
HP:0011029	Internal hemorrhage	84231	TRAF7	ORPHA:2495
HP:0011029	Internal hemorrhage	6608	SMO	ORPHA:2495
HP:0011029	Internal hemorrhage	207	AKT1	ORPHA:2495
HP:0011029	Internal hemorrhage	5290	PIK3CA	ORPHA:2495
HP:0011029	Internal hemorrhage	7015	TERT	ORPHA:2495
HP:0011029	Internal hemorrhage	51684	SUFU	ORPHA:2495
HP:0011029	Internal hemorrhage	6605	SMARCE1	ORPHA:2495
HP:0011029	Internal hemorrhage	8517	IKBKG	OMIM:301081
HP:0011029	Internal hemorrhage	1282	COL4A1	OMIM:175780
HP:0011029	Internal hemorrhage	2335	FN1	ORPHA:84090
HP:0011029	Internal hemorrhage	11235	PDCD10	OMIM:603285
HP:0011029	Internal hemorrhage	11235	PDCD10	ORPHA:221061
HP:0011029	Internal hemorrhage	83605	CCM2	OMIM:603284
HP:0011029	Internal hemorrhage	83605	CCM2	ORPHA:221061
HP:0011029	Internal hemorrhage	2243	FGA	ORPHA:98880
HP:0011029	Internal hemorrhage	2244	FGB	ORPHA:98880
HP:0011029	Internal hemorrhage	2266	FGG	ORPHA:98880
HP:0011029	Internal hemorrhage	889	KRIT1	ORPHA:221061
HP:0011029	Internal hemorrhage	368	ABCC6	OMIM:177850
HP:0011029	Internal hemorrhage	2316	FLNA	OMIM:300049
HP:0011029	Internal hemorrhage	3075	CFH	ORPHA:244242
HP:0011029	Internal hemorrhage	3426	CFI	ORPHA:244242
HP:0011029	Internal hemorrhage	4179	CD46	ORPHA:244242
HP:0011029	Internal hemorrhage	101101692	HELLPAR	ORPHA:244242
HP:0011029	Internal hemorrhage	5627	PROS1	OMIM:614514
HP:0011029	Internal hemorrhage	2165	F13B	ORPHA:331
HP:0011029	Internal hemorrhage	2162	F13A1	ORPHA:331
HP:0011029	Internal hemorrhage	4854	NOTCH3	ORPHA:136
HP:0011029	Internal hemorrhage	51816	ADA2	OMIM:182410
HP:0011029	Internal hemorrhage	442721	LMOD2	OMIM:619897
HP:0011029	Internal hemorrhage	11274	USP18	OMIM:617397
HP:0011029	Internal hemorrhage	727676	SNORD118	ORPHA:542310
HP:0011029	Internal hemorrhage	6773	STAT2	OMIM:618886
HP:0011029	Internal hemorrhage	79184	BRCC3	ORPHA:280679
HP:0011029	Internal hemorrhage	1788	DNMT3A	ORPHA:276621
HP:0011029	Internal hemorrhage	2034	EPAS1	ORPHA:276621
HP:0011029	Internal hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0011029	Internal hemorrhage	94	ACVRL1	OMIM:600376
HP:0011029	Internal hemorrhage	94	ACVRL1	ORPHA:774
HP:0011029	Internal hemorrhage	2658	GDF2	ORPHA:774
HP:0011029	Internal hemorrhage	4089	SMAD4	ORPHA:774
HP:0011029	Internal hemorrhage	4089	SMAD4	ORPHA:91387
HP:0011029	Internal hemorrhage	2022	ENG	ORPHA:774
HP:0011029	Internal hemorrhage	2022	ENG	OMIM:187300
HP:0011029	Internal hemorrhage	2022	ENG	ORPHA:231160
HP:0011029	Internal hemorrhage	2548	GAA	OMIM:232300
HP:0011029	Internal hemorrhage	4088	SMAD3	OMIM:613795
HP:0011029	Internal hemorrhage	4088	SMAD3	ORPHA:91387
HP:0011029	Internal hemorrhage	5921	RASA1	ORPHA:90307
HP:0011029	Internal hemorrhage	2159	F10	ORPHA:328
HP:0011029	Internal hemorrhage	351	APP	OMIM:605714
HP:0011029	Internal hemorrhage	81704	DOCK8	OMIM:243700
HP:0011029	Internal hemorrhage	6786	STIM1	OMIM:185070
HP:0011029	Internal hemorrhage	55901	THSD1	OMIM:618734
HP:0011029	Internal hemorrhage	55901	THSD1	ORPHA:231160
HP:0011029	Internal hemorrhage	4629	MYH11	ORPHA:91387
HP:0011029	Internal hemorrhage	7046	TGFBR1	ORPHA:91387
HP:0011029	Internal hemorrhage	7048	TGFBR2	ORPHA:91387
HP:0011029	Internal hemorrhage	4015	LOX	ORPHA:91387
HP:0011029	Internal hemorrhage	4087	SMAD2	ORPHA:91387
HP:0011029	Internal hemorrhage	7043	TGFB3	ORPHA:91387
HP:0011029	Internal hemorrhage	7042	TGFB2	ORPHA:91387
HP:0011029	Internal hemorrhage	2200	FBN1	ORPHA:91387
HP:0011029	Internal hemorrhage	59	ACTA2	ORPHA:91387
HP:0011029	Internal hemorrhage	5592	PRKG1	ORPHA:91387
HP:0011029	Internal hemorrhage	2301	FOXE3	ORPHA:91387
HP:0011029	Internal hemorrhage	4144	MAT2A	ORPHA:91387
HP:0011029	Internal hemorrhage	23493	HEY2	ORPHA:91387
HP:0011029	Internal hemorrhage	8076	MFAP5	ORPHA:91387
HP:0011029	Internal hemorrhage	4638	MYLK	ORPHA:91387
HP:0011029	Internal hemorrhage	2006	ELN	ORPHA:91387
HP:0011029	Internal hemorrhage	2811	GP1BA	ORPHA:853
HP:0011029	Internal hemorrhage	2812	GP1BB	ORPHA:853
HP:0011029	Internal hemorrhage	3674	ITGA2B	ORPHA:853
HP:0011029	Internal hemorrhage	3673	ITGA2	ORPHA:853
HP:0011029	Internal hemorrhage	135228	CD109	ORPHA:853
HP:0011029	Internal hemorrhage	3690	ITGB3	ORPHA:853
HP:0011029	Internal hemorrhage	7049	TGFBR3	ORPHA:231160
HP:0011029	Internal hemorrhage	83854	ANGPTL6	ORPHA:231160
HP:0011029	Internal hemorrhage	1798	DPAGT1	ORPHA:86309
HP:0011029	Internal hemorrhage	54809	SAMD9	OMIM:617053
HP:0011029	Internal hemorrhage	2629	GBA1	ORPHA:85212
HP:0011029	Internal hemorrhage	65062	TMEM237	OMIM:614424
HP:0011029	Internal hemorrhage	2624	GATA2	ORPHA:3226
HP:0011029	Internal hemorrhage	4000	LMNA	ORPHA:740
HP:0011029	Internal hemorrhage	4000	LMNA	ORPHA:363618
HP:0011029	Internal hemorrhage	10269	ZMPSTE24	ORPHA:740
HP:0011029	Internal hemorrhage	249	ALPL	OMIM:241500
HP:0011029	Internal hemorrhage	1584	CYP11B1	ORPHA:90795
HP:0011029	Internal hemorrhage	1584	CYP11B1	ORPHA:403
HP:0011029	Internal hemorrhage	5373	PMM2	ORPHA:79318
HP:0011029	Internal hemorrhage	1284	COL4A2	OMIM:614483
HP:0011029	Internal hemorrhage	340665	CYP26C1	ORPHA:398189
HP:0011029	Internal hemorrhage	1181	CLCN2	ORPHA:404
HP:0011029	Internal hemorrhage	1585	CYP11B2	ORPHA:403
HP:0011029	Internal hemorrhage	776	CACNA1D	ORPHA:369929
HP:0011029	Internal hemorrhage	25942	SIN3A	OMIM:613406
HP:0011029	Internal hemorrhage	3762	KCNJ5	ORPHA:251274
HP:0011029	Internal hemorrhage	171023	ASXL1	ORPHA:98850
HP:0011029	Internal hemorrhage	54790	TET2	ORPHA:98850
HP:0011029	Internal hemorrhage	54790	TET2	ORPHA:729
HP:0011029	Internal hemorrhage	867	CBL	ORPHA:98850
HP:0011029	Internal hemorrhage	861	RUNX1	ORPHA:98850
HP:0011029	Internal hemorrhage	6427	SRSF2	ORPHA:98850
HP:0011029	Internal hemorrhage	875	CBS	ORPHA:394
HP:0011029	Internal hemorrhage	2815	GP9	ORPHA:274
HP:0011029	Internal hemorrhage	2815	GP9	OMIM:231200
HP:0011029	Internal hemorrhage	229	ALDOB	OMIM:229600
HP:0011029	Internal hemorrhage	5351	PLOD1	OMIM:225400
HP:0011029	Internal hemorrhage	7148	TNXB	ORPHA:230839
HP:0011029	Internal hemorrhage	80270	HSD3B7	ORPHA:79301
HP:0011029	Internal hemorrhage	4072	EPCAM	ORPHA:144
HP:0011029	Internal hemorrhage	4292	MLH1	ORPHA:144
HP:0011029	Internal hemorrhage	5395	PMS2	ORPHA:144
HP:0011029	Internal hemorrhage	27030	MLH3	ORPHA:144
HP:0011029	Internal hemorrhage	22909	FAN1	ORPHA:144
HP:0011029	Internal hemorrhage	3845	KRAS	ORPHA:144
HP:0011029	Internal hemorrhage	2956	MSH6	ORPHA:144
HP:0011029	Internal hemorrhage	5378	PMS1	ORPHA:144
HP:0011029	Internal hemorrhage	4436	MSH2	ORPHA:144
HP:0011029	Internal hemorrhage	4609	MYC	ORPHA:543
HP:0011029	Internal hemorrhage	64218	SEMA4A	ORPHA:440437
HP:0011029	Internal hemorrhage	6224	RPS20	ORPHA:440437
HP:0011029	Internal hemorrhage	843	CASP10	OMIM:603909
HP:0011029	Internal hemorrhage	7248	TSC1	ORPHA:538
HP:0011029	Internal hemorrhage	7249	TSC2	ORPHA:538
HP:0011029	Internal hemorrhage	3106	HLA-B	ORPHA:36426
HP:0011029	Internal hemorrhage	3106	HLA-B	ORPHA:117
HP:0011029	Internal hemorrhage	10320	IKZF1	ORPHA:36426
HP:0011029	Internal hemorrhage	3930	LBR	OMIM:613471
HP:0011029	Internal hemorrhage	4352	MPL	ORPHA:729
HP:0011029	Internal hemorrhage	7132	TNFRSF1A	OMIM:142680
HP:0011029	Internal hemorrhage	55109	AGGF1	ORPHA:90308
HP:0011029	Internal hemorrhage	1312	COMT	ORPHA:567
HP:0011029	Internal hemorrhage	221037	JMJD1C	ORPHA:567
HP:0011029	Internal hemorrhage	6239	RREB1	ORPHA:567
HP:0011029	Internal hemorrhage	6899	TBX1	ORPHA:567
HP:0011029	Internal hemorrhage	7290	HIRA	ORPHA:567
HP:0011029	Internal hemorrhage	9632	SEC24C	ORPHA:567
HP:0011029	Internal hemorrhage	7353	UFD1	ORPHA:567
HP:0011029	Internal hemorrhage	421	ARVCF	ORPHA:567
HP:0011029	Internal hemorrhage	3248	HPGD	ORPHA:2796
HP:0011029	Internal hemorrhage	6578	SLCO2A1	ORPHA:2796
HP:0011029	Internal hemorrhage	22827	PUF60	ORPHA:508488
HP:0011029	Internal hemorrhage	538	ATP7A	ORPHA:565
HP:0011029	Internal hemorrhage	1493	CTLA4	ORPHA:900
HP:0011029	Internal hemorrhage	26191	PTPN22	ORPHA:900
HP:0011029	Internal hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0011029	Internal hemorrhage	5657	PRTN3	ORPHA:900
HP:0011029	Internal hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0011029	Internal hemorrhage	493856	CISD2	ORPHA:3463
HP:0011029	Internal hemorrhage	7466	WFS1	ORPHA:3463
HP:0011029	Internal hemorrhage	4598	MVK	ORPHA:343
HP:0011029	Internal hemorrhage	79991	STN1	OMIM:617341
HP:0011029	Internal hemorrhage	11231	SEC63	ORPHA:2924
HP:0011029	Internal hemorrhage	5589	PRKCSH	ORPHA:2924
HP:0011029	Internal hemorrhage	10165	SLC25A13	ORPHA:247598
HP:0011029	Internal hemorrhage	3662	IRF4	ORPHA:3452
HP:0011029	Internal hemorrhage	3516	RBPJ	ORPHA:974
HP:0011029	Internal hemorrhage	4851	NOTCH1	ORPHA:974
HP:0011029	Internal hemorrhage	57514	ARHGAP31	ORPHA:974
HP:0011029	Internal hemorrhage	57572	DOCK6	ORPHA:974
HP:0011029	Internal hemorrhage	285203	EOGT	ORPHA:974
HP:0011029	Internal hemorrhage	54567	DLL4	ORPHA:974
HP:0011029	Internal hemorrhage	199221	DZIP1L	ORPHA:731
HP:0011029	Internal hemorrhage	5314	PKHD1	ORPHA:731
HP:0011029	Internal hemorrhage	4351	MPI	ORPHA:79319
HP:0011029	Internal hemorrhage	811	CALR	ORPHA:131
HP:0011029	Internal hemorrhage	5156	PDGFRA	ORPHA:44890
HP:0011029	Internal hemorrhage	3815	KIT	ORPHA:44890
HP:0011029	Internal hemorrhage	79651	RHBDF2	ORPHA:2198
HP:0011029	Internal hemorrhage	2184	FAH	OMIM:276700
HP:0011029	Internal hemorrhage	8328	GFI1B	OMIM:187900
HP:0011029	Internal hemorrhage	149233	IL23R	ORPHA:117
HP:0011029	Internal hemorrhage	6775	STAT4	ORPHA:117
HP:0011029	Internal hemorrhage	3586	IL10	ORPHA:117
HP:0011029	Internal hemorrhage	4210	MEFV	ORPHA:117
HP:0011029	Internal hemorrhage	1230	CCR1	ORPHA:117
HP:0011029	Internal hemorrhage	355	FAS	ORPHA:117
HP:0011029	Internal hemorrhage	3592	IL12A	ORPHA:117
HP:0011029	Internal hemorrhage	101928376	IL12A-AS1	ORPHA:117
HP:0011029	Internal hemorrhage	7099	TLR4	ORPHA:117
HP:0011029	Internal hemorrhage	3459	IFNGR1	ORPHA:117
HP:0011029	Internal hemorrhage	720	C4A	ORPHA:117
HP:0011029	Internal hemorrhage	337867	UBAC2	ORPHA:117
HP:0011029	Internal hemorrhage	51752	ERAP1	ORPHA:117
HP:0011029	Internal hemorrhage	8302	KLRC4	ORPHA:117
HP:0011029	Internal hemorrhage	9968	MED12	OMIM:301068
HP:0011029	Internal hemorrhage	6720	SREBF1	OMIM:158310
HP:0011029	Internal hemorrhage	9493	KIF23	ORPHA:98870
HP:0011029	Internal hemorrhage	29127	RACGAP1	ORPHA:98870
HP:0011029	Internal hemorrhage	4221	MEN1	ORPHA:652
HP:0011029	Internal hemorrhage	1027	CDKN1B	ORPHA:652
HP:0011029	Internal hemorrhage	1026	CDKN1A	ORPHA:652
HP:0011029	Internal hemorrhage	1030	CDKN2B	ORPHA:652
HP:0011029	Internal hemorrhage	1031	CDKN2C	ORPHA:652
HP:0011029	Internal hemorrhage	1616	DAXX	ORPHA:100075
HP:0011029	Internal hemorrhage	546	ATRX	ORPHA:100075
HP:0011029	Internal hemorrhage	83483	PLVAP	OMIM:618183
HP:0011029	Internal hemorrhage	57551	TAOK1	OMIM:619575
HP:0011029	Internal hemorrhage	57217	TTC7A	OMIM:243150
HP:0011029	Internal hemorrhage	26585	GREM1	ORPHA:157794
HP:0011029	Internal hemorrhage	10616	RBCK1	OMIM:615895
HP:0011029	Internal hemorrhage	3257	HPS1	OMIM:203300
HP:0011029	Internal hemorrhage	9420	CYP7B1	OMIM:613812
HP:0011029	Internal hemorrhage	23600	AMACR	OMIM:214950
HP:0011029	Internal hemorrhage	23600	AMACR	ORPHA:79095
HP:0011029	Internal hemorrhage	64135	IFIH1	OMIM:615846
HP:0011029	Internal hemorrhage	3587	IL10RA	OMIM:613148
HP:0011029	Internal hemorrhage	324	APC	ORPHA:261584
HP:0011029	Internal hemorrhage	80169	CTC1	OMIM:612199
HP:0011029	Internal hemorrhage	7010	TEK	ORPHA:1059
HP:0011029	Internal hemorrhage	7010	TEK	OMIM:600195
HP:0011029	Internal hemorrhage	6794	STK11	OMIM:175200
HP:0011029	Internal hemorrhage	5728	PTEN	ORPHA:79076
HP:0011029	Internal hemorrhage	657	BMPR1A	ORPHA:79076
HP:0011029	Internal hemorrhage	2157	F8	ORPHA:177926
HP:0011029	Internal hemorrhage	2157	F8	ORPHA:169805
HP:0011029	Internal hemorrhage	2157	F8	ORPHA:169802
HP:0011029	Internal hemorrhage	2157	F8	OMIM:306700
HP:0011029	Internal hemorrhage	5345	SERPINF2	OMIM:262850
HP:0011029	Internal hemorrhage	5345	SERPINF2	ORPHA:79
HP:0011029	Internal hemorrhage	7450	VWF	OMIM:193400
HP:0011029	Internal hemorrhage	7450	VWF	OMIM:277480
HP:0011029	Internal hemorrhage	2155	F7	OMIM:227500
HP:0011029	Internal hemorrhage	2155	F7	ORPHA:327
HP:0011029	Internal hemorrhage	2147	F2	OMIM:613679
HP:0011029	Internal hemorrhage	2147	F2	ORPHA:325
HP:0011029	Internal hemorrhage	2160	F11	ORPHA:329
HP:0011029	Internal hemorrhage	2153	F5	ORPHA:326
HP:0011029	Internal hemorrhage	2158	F9	OMIM:306900
HP:0011029	Internal hemorrhage	5054	SERPINE1	ORPHA:465
HP:0011029	Internal hemorrhage	3998	LMAN1	ORPHA:35909
HP:0011029	Internal hemorrhage	90411	MCFD2	ORPHA:35909
HP:0011029	Internal hemorrhage	5328	PLAU	OMIM:601709
HP:0011029	Internal hemorrhage	7454	WAS	OMIM:313900
HP:0011029	Internal hemorrhage	7456	WIPF1	ORPHA:906
HP:0011029	Internal hemorrhage	1376	CPT2	OMIM:608836
HP:0011029	Internal hemorrhage	54820	NDE1	ORPHA:2177
HP:0011029	Internal hemorrhage	8322	FZD4	OMIM:133780
HP:0011029	Internal hemorrhage	8322	FZD4	ORPHA:891
HP:0011029	Internal hemorrhage	8322	FZD4	ORPHA:90050
HP:0011029	Internal hemorrhage	4041	LRP5	OMIM:133780
HP:0011029	Internal hemorrhage	4041	LRP5	ORPHA:891
HP:0011029	Internal hemorrhage	4041	LRP5	ORPHA:90050
HP:0011029	Internal hemorrhage	4041	LRP5	OMIM:601813
HP:0011029	Internal hemorrhage	4693	NDP	ORPHA:891
HP:0011029	Internal hemorrhage	4693	NDP	ORPHA:90050
HP:0011029	Internal hemorrhage	1499	CTNNB1	ORPHA:891
HP:0011029	Internal hemorrhage	23554	TSPAN12	ORPHA:891
HP:0011029	Internal hemorrhage	79797	ZNF408	ORPHA:891
HP:0011029	Internal hemorrhage	726	CAPN5	OMIM:193235
HP:0011029	Internal hemorrhage	7439	BEST1	OMIM:193220
HP:0011029	Internal hemorrhage	5624	PROC	OMIM:612304
HP:0011029	Internal hemorrhage	6247	RS1	OMIM:312700
HP:0011029	Internal hemorrhage	5925	RB1	OMIM:180200
HP:0011029	Internal hemorrhage	57105	CYSLTR2	ORPHA:39044
HP:0011029	Internal hemorrhage	2776	GNAQ	ORPHA:39044
HP:0011029	Internal hemorrhage	2767	GNA11	ORPHA:39044
HP:0011029	Internal hemorrhage	23451	SF3B1	ORPHA:39044
HP:0011029	Internal hemorrhage	23137	SMC5	OMIM:620185
HP:0011029	Internal hemorrhage	3712	IVD	OMIM:243500
HP:0011029	Internal hemorrhage	28976	ACAD9	ORPHA:99901
HP:0011029	Internal hemorrhage	4594	MMUT	OMIM:251000
HP:0011029	Internal hemorrhage	5095	PCCA	OMIM:606054
HP:0011029	Internal hemorrhage	5096	PCCB	OMIM:606054
HP:0011029	Internal hemorrhage	220202	ATOH7	ORPHA:91495
HP:0011029	Internal hemorrhage	9839	ZEB2	ORPHA:261552
HP:0011029	Internal hemorrhage	5903	RANBP2	ORPHA:88619
HP:0011029	Internal hemorrhage	10095	ARPC1B	OMIM:617718
HP:0011029	Internal hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0011029	Internal hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0011029	Internal hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0011029	Internal hemorrhage	1281	COL3A1	OMIM:130050
HP:0011029	Internal hemorrhage	6774	STAT3	ORPHA:520
HP:0011029	Internal hemorrhage	5371	PML	ORPHA:520
HP:0011029	Internal hemorrhage	5914	RARA	ORPHA:520
HP:0011029	Internal hemorrhage	359948	IRF2BP2	ORPHA:520
HP:0011029	Internal hemorrhage	81608	FIP1L1	ORPHA:520
HP:0011029	Internal hemorrhage	4869	NPM1	ORPHA:520
HP:0011029	Internal hemorrhage	5573	PRKAR1A	ORPHA:520
HP:0011029	Internal hemorrhage	54880	BCOR	ORPHA:520
HP:0011029	Internal hemorrhage	64859	NABP1	ORPHA:520
HP:0011029	Internal hemorrhage	6777	STAT5B	ORPHA:520
HP:0011029	Internal hemorrhage	4926	NUMA1	ORPHA:520
HP:0011029	Internal hemorrhage	7704	ZBTB16	ORPHA:520
HP:0011029	Internal hemorrhage	79718	TBL1XR1	ORPHA:520
HP:0011029	Internal hemorrhage	58484	NLRC4	OMIM:616050
HP:0011029	Internal hemorrhage	440275	EIF2AK4	ORPHA:199241
HP:0011029	Internal hemorrhage	3162	HMOX1	OMIM:614034
HP:0011029	Internal hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0011029	Internal hemorrhage	348	APOE	OMIM:603075
HP:0011029	Internal hemorrhage	83872	HMCN1	OMIM:603075
HP:0011029	Internal hemorrhage	3078	CFHR1	OMIM:603075
HP:0011029	Internal hemorrhage	10878	CFHR3	OMIM:603075
HP:0011029	Internal hemorrhage	4774	NFIA	ORPHA:401986
HP:0011029	Internal hemorrhage	55788	LMBRD1	ORPHA:79284
HP:0011029	Internal hemorrhage	284058	KANSL1	ORPHA:363965
HP:0011029	Internal hemorrhage	284058	KANSL1	ORPHA:363958
HP:0011029	Internal hemorrhage	6678	SPARC	OMIM:616507
HP:0011029	Internal hemorrhage	165918	RNF168	ORPHA:420741
HP:0011029	Internal hemorrhage	100131801	PET100	OMIM:619055
HP:0011029	Internal hemorrhage	92935	MARS2	OMIM:616430
HP:0011029	Internal hemorrhage	1725	DHPS	OMIM:618480
HP:0011029	Internal hemorrhage	1314	COPA	OMIM:616414
HP:0011029	Internal hemorrhage	9056	SLC7A7	OMIM:222700
HP:0011029	Internal hemorrhage	10559	SLC35A1	ORPHA:238459
HP:0011029	Internal hemorrhage	10559	SLC35A1	OMIM:603585
HP:0011029	Internal hemorrhage	10664	CTCF	ORPHA:363611
HP:0011029	Internal hemorrhage	57169	ZNFX1	OMIM:619644
HP:0011029	Internal hemorrhage	3431	SP110	ORPHA:79124
HP:0011029	Internal hemorrhage	23299	BICD2	OMIM:618291
HP:0011029	Internal hemorrhage	25974	MMACHC	ORPHA:79282
HP:0011029	Internal hemorrhage	3703	STT3A	OMIM:619714
HP:0011029	Internal hemorrhage	8241	RBM10	OMIM:311900
HP:0011029	Internal hemorrhage	10526	IPO8	OMIM:619472
HP:0011023	Abnormal circulating prostaglandin circulation	6557	SLC12A1	OMIM:601678
HP:0011023	Abnormal circulating prostaglandin circulation	3758	KCNJ1	OMIM:241200
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	6557	SLC12A1	OMIM:601678
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	3758	KCNJ1	OMIM:241200
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	4056	LTC4S	OMIM:614037
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	5321	PLA2G4A	OMIM:618372
HP:0011021	Abnormality of circulating enzyme level	9015	TAF1A	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	5663	PSEN1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	6389	SDHA	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7112	TMPO	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	9464	HAND2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	4625	MYH7	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	4625	MYH7	OMIM:160500
HP:0011021	Abnormality of circulating enzyme level	4625	MYH7	OMIM:255160
HP:0011021	Abnormality of circulating enzyme level	4625	MYH7	ORPHA:437572
HP:0011021	Abnormality of circulating enzyme level	88	ACTN2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	88	ACTN2	OMIM:618655
HP:0011021	Abnormality of circulating enzyme level	10486	CAP2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	10060	ABCC9	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7168	TPM1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7414	VCL	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1832	DSP	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	70	ACTC1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	27063	ANKRD1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	8048	CSRP3	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1410	CRYAB	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1410	CRYAB	OMIM:608810
HP:0011021	Abnormality of circulating enzyme level	1410	CRYAB	OMIM:615184
HP:0011021	Abnormality of circulating enzyme level	1410	CRYAB	OMIM:613869
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	OMIM:181350
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	OMIM:613205
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	ORPHA:98855
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	ORPHA:98853
HP:0011021	Abnormality of circulating enzyme level	4000	LMNA	OMIM:616516
HP:0011021	Abnormality of circulating enzyme level	7139	TNNT2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1829	DSG2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	3910	LAMA4	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	63976	PRDM16	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7273	TTN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7273	TTN	OMIM:608807
HP:0011021	Abnormality of circulating enzyme level	7273	TTN	OMIM:603689
HP:0011021	Abnormality of circulating enzyme level	7273	TTN	OMIM:611705
HP:0011021	Abnormality of circulating enzyme level	7273	TTN	ORPHA:178464
HP:0011021	Abnormality of circulating enzyme level	10587	TXNRD2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	9531	BAG3	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	9531	BAG3	OMIM:612954
HP:0011021	Abnormality of circulating enzyme level	5350	PLN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	91624	NEXN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	79717	PPCS	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	5664	PSEN2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	4624	MYH6	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	9529	BAG5	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	4607	MYBPC3	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	282996	RBM20	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7137	TNNI3	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	11155	LDB3	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	11155	LDB3	OMIM:609452
HP:0011021	Abnormality of circulating enzyme level	2274	FHL2	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	6901	TAFAZZIN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	22845	DOLK	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	5894	RAF1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	OMIM:310200
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	ORPHA:98895
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	ORPHA:98896
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	ORPHA:206546
HP:0011021	Abnormality of circulating enzyme level	1756	DMD	OMIM:300376
HP:0011021	Abnormality of circulating enzyme level	57798	GATAD1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	7134	TNNC1	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	84665	MYPN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1674	DES	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	1674	DES	OMIM:604765
HP:0011021	Abnormality of circulating enzyme level	6444	SGCD	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	6444	SGCD	OMIM:601287
HP:0011021	Abnormality of circulating enzyme level	6444	SGCD	OMIM:606685
HP:0011021	Abnormality of circulating enzyme level	6331	SCN5A	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	OMIM:236670
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	OMIM:611615
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	OMIM:253800
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	OMIM:611588
HP:0011021	Abnormality of circulating enzyme level	2218	FKTN	OMIM:613152
HP:0011021	Abnormality of circulating enzyme level	8557	TCAP	ORPHA:154
HP:0011021	Abnormality of circulating enzyme level	8557	TCAP	OMIM:601954
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	OMIM:615350
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	OMIM:615351
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	OMIM:615352
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	ORPHA:370968
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	ORPHA:353327
HP:0011021	Abnormality of circulating enzyme level	29925	GMPPB	ORPHA:363623
HP:0011021	Abnormality of circulating enzyme level	3094	HINT1	ORPHA:324442
HP:0011021	Abnormality of circulating enzyme level	3094	HINT1	OMIM:137200
HP:0011021	Abnormality of circulating enzyme level	8106	PABPN1	ORPHA:270
HP:0011021	Abnormality of circulating enzyme level	8106	PABPN1	OMIM:164300
HP:0011021	Abnormality of circulating enzyme level	7415	VCP	OMIM:616687
HP:0011021	Abnormality of circulating enzyme level	7415	VCP	OMIM:167320
HP:0011021	Abnormality of circulating enzyme level	7415	VCP	ORPHA:435387
HP:0011021	Abnormality of circulating enzyme level	7415	VCP	OMIM:613954
HP:0011021	Abnormality of circulating enzyme level	7415	VCP	ORPHA:52430
HP:0011021	Abnormality of circulating enzyme level	60684	TRAPPC11	OMIM:615356
HP:0011021	Abnormality of circulating enzyme level	400916	CHCHD10	OMIM:616209
HP:0011021	Abnormality of circulating enzyme level	400916	CHCHD10	OMIM:615048
HP:0011021	Abnormality of circulating enzyme level	400916	CHCHD10	ORPHA:276435
HP:0011021	Abnormality of circulating enzyme level	5361	PLXNA1	OMIM:619955
HP:0011021	Abnormality of circulating enzyme level	55733	HHAT	OMIM:600092
HP:0011021	Abnormality of circulating enzyme level	8291	DYSF	OMIM:253601
HP:0011021	Abnormality of circulating enzyme level	8291	DYSF	ORPHA:268
HP:0011021	Abnormality of circulating enzyme level	8291	DYSF	OMIM:254130
HP:0011021	Abnormality of circulating enzyme level	8291	DYSF	OMIM:606768
HP:0011021	Abnormality of circulating enzyme level	825	CAPN3	OMIM:253600
HP:0011021	Abnormality of circulating enzyme level	825	CAPN3	ORPHA:267
HP:0011021	Abnormality of circulating enzyme level	825	CAPN3	OMIM:618129
HP:0011021	Abnormality of circulating enzyme level	22947	DUX4L1	ORPHA:269
HP:0011021	Abnormality of circulating enzyme level	1789	DNMT3B	ORPHA:269
HP:0011021	Abnormality of circulating enzyme level	2483	FRG1	ORPHA:269
HP:0011021	Abnormality of circulating enzyme level	2483	FRG1	OMIM:158900
HP:0011021	Abnormality of circulating enzyme level	23347	SMCHD1	ORPHA:269
HP:0011021	Abnormality of circulating enzyme level	100288687	DUX4	ORPHA:269
HP:0011021	Abnormality of circulating enzyme level	9499	MYOT	ORPHA:266
HP:0011021	Abnormality of circulating enzyme level	9499	MYOT	OMIM:609200
HP:0011021	Abnormality of circulating enzyme level	9499	MYOT	ORPHA:98911
HP:0011021	Abnormality of circulating enzyme level	5339	PLEC	ORPHA:254361
HP:0011021	Abnormality of circulating enzyme level	5339	PLEC	OMIM:613723
HP:0011021	Abnormality of circulating enzyme level	5339	PLEC	ORPHA:158684
HP:0011021	Abnormality of circulating enzyme level	3074	HEXB	ORPHA:309169
HP:0011021	Abnormality of circulating enzyme level	1785	DNM2	OMIM:615368
HP:0011021	Abnormality of circulating enzyme level	84466	MEGF10	OMIM:614399
HP:0011021	Abnormality of circulating enzyme level	84197	POMK	OMIM:615249
HP:0011021	Abnormality of circulating enzyme level	84197	POMK	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	84197	POMK	OMIM:616094
HP:0011021	Abnormality of circulating enzyme level	22954	TRIM32	ORPHA:1878
HP:0011021	Abnormality of circulating enzyme level	22954	TRIM32	OMIM:254110
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	OMIM:606612
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	ORPHA:34515
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	OMIM:236670
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	ORPHA:370968
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	OMIM:607155
HP:0011021	Abnormality of circulating enzyme level	79147	FKRP	OMIM:613153
HP:0011021	Abnormality of circulating enzyme level	55154	MSTO1	OMIM:617675
HP:0011021	Abnormality of circulating enzyme level	311	ANXA11	OMIM:619733
HP:0011021	Abnormality of circulating enzyme level	29958	DMGDH	ORPHA:243343
HP:0011021	Abnormality of circulating enzyme level	29958	DMGDH	OMIM:605850
HP:0011021	Abnormality of circulating enzyme level	6445	SGCG	OMIM:253700
HP:0011021	Abnormality of circulating enzyme level	6445	SGCG	ORPHA:353
HP:0011021	Abnormality of circulating enzyme level	1605	DAG1	ORPHA:280333
HP:0011021	Abnormality of circulating enzyme level	1605	DAG1	ORPHA:370997
HP:0011021	Abnormality of circulating enzyme level	1605	DAG1	OMIM:613818
HP:0011021	Abnormality of circulating enzyme level	1605	DAG1	OMIM:616538
HP:0011021	Abnormality of circulating enzyme level	1303	COL12A1	OMIM:616471
HP:0011021	Abnormality of circulating enzyme level	1303	COL12A1	ORPHA:610
HP:0011021	Abnormality of circulating enzyme level	1303	COL12A1	ORPHA:75840
HP:0011021	Abnormality of circulating enzyme level	7386	UQCRFS1	OMIM:618775
HP:0011021	Abnormality of circulating enzyme level	5442	POLRMT	OMIM:619743
HP:0011021	Abnormality of circulating enzyme level	83636	C19orf12	OMIM:614298
HP:0011021	Abnormality of circulating enzyme level	5224	PGAM2	OMIM:261670
HP:0011021	Abnormality of circulating enzyme level	844	CASQ1	OMIM:616231
HP:0011021	Abnormality of circulating enzyme level	844	CASQ1	ORPHA:88635
HP:0011021	Abnormality of circulating enzyme level	246243	RNASEH1	OMIM:616479
HP:0011021	Abnormality of circulating enzyme level	54840	APTX	OMIM:208920
HP:0011021	Abnormality of circulating enzyme level	79731	NARS2	OMIM:616239
HP:0011021	Abnormality of circulating enzyme level	284439	SLC25A42	OMIM:618416
HP:0011021	Abnormality of circulating enzyme level	4359	MPZ	ORPHA:101082
HP:0011021	Abnormality of circulating enzyme level	59341	TRPV4	OMIM:600175
HP:0011021	Abnormality of circulating enzyme level	6261	RYR1	ORPHA:597
HP:0011021	Abnormality of circulating enzyme level	6261	RYR1	OMIM:619542
HP:0011021	Abnormality of circulating enzyme level	6261	RYR1	ORPHA:424107
HP:0011021	Abnormality of circulating enzyme level	6261	RYR1	OMIM:145600
HP:0011021	Abnormality of circulating enzyme level	6261	RYR1	ORPHA:466650
HP:0011021	Abnormality of circulating enzyme level	1763	DNA2	OMIM:615156
HP:0011021	Abnormality of circulating enzyme level	9453	GGPS1	OMIM:619518
HP:0011021	Abnormality of circulating enzyme level	148789	B3GALNT2	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	148789	B3GALNT2	OMIM:615181
HP:0011021	Abnormality of circulating enzyme level	9215	LARGE1	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	9215	LARGE1	OMIM:236670
HP:0011021	Abnormality of circulating enzyme level	9215	LARGE1	ORPHA:370968
HP:0011021	Abnormality of circulating enzyme level	9215	LARGE1	OMIM:608840
HP:0011021	Abnormality of circulating enzyme level	9215	LARGE1	OMIM:613154
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	OMIM:236670
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	ORPHA:370968
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	ORPHA:206559
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	OMIM:613150
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	OMIM:613156
HP:0011021	Abnormality of circulating enzyme level	29954	POMT2	OMIM:613158
HP:0011021	Abnormality of circulating enzyme level	55624	POMGNT1	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	55624	POMGNT1	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	55624	POMGNT1	OMIM:253280
HP:0011021	Abnormality of circulating enzyme level	55624	POMGNT1	OMIM:613151
HP:0011021	Abnormality of circulating enzyme level	55624	POMGNT1	OMIM:613157
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	ORPHA:588
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	OMIM:236670
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	ORPHA:370968
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	ORPHA:370959
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	OMIM:609308
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	ORPHA:86812
HP:0011021	Abnormality of circulating enzyme level	10585	POMT1	OMIM:613155
HP:0011021	Abnormality of circulating enzyme level	8818	DPM2	OMIM:615042
HP:0011021	Abnormality of circulating enzyme level	8818	DPM2	ORPHA:329178
HP:0011021	Abnormality of circulating enzyme level	11041	B4GAT1	OMIM:615287
HP:0011021	Abnormality of circulating enzyme level	56652	TWNK	OMIM:616138
HP:0011021	Abnormality of circulating enzyme level	56652	TWNK	ORPHA:254892
HP:0011021	Abnormality of circulating enzyme level	10342	TFG	ORPHA:90117
HP:0011021	Abnormality of circulating enzyme level	10531	PITRM1	OMIM:619405
HP:0011021	Abnormality of circulating enzyme level	2683	B4GALT1	ORPHA:79332
HP:0011021	Abnormality of circulating enzyme level	2683	B4GALT1	OMIM:607091
HP:0011021	Abnormality of circulating enzyme level	91949	COG7	ORPHA:79333
HP:0011021	Abnormality of circulating enzyme level	91949	COG7	OMIM:608779
HP:0011021	Abnormality of circulating enzyme level	57104	PNPLA2	OMIM:610717
HP:0011021	Abnormality of circulating enzyme level	57104	PNPLA2	ORPHA:565612
HP:0011021	Abnormality of circulating enzyme level	57724	EPG5	OMIM:242840
HP:0011021	Abnormality of circulating enzyme level	23299	BICD2	OMIM:615290
HP:0011021	Abnormality of circulating enzyme level	339855	KY	OMIM:617114
HP:0011021	Abnormality of circulating enzyme level	56983	POGLUT1	OMIM:617232
HP:0011021	Abnormality of circulating enzyme level	859	CAV3	OMIM:123320
HP:0011021	Abnormality of circulating enzyme level	859	CAV3	ORPHA:206599
HP:0011021	Abnormality of circulating enzyme level	859	CAV3	OMIM:606072
HP:0011021	Abnormality of circulating enzyme level	859	CAV3	OMIM:614321
HP:0011021	Abnormality of circulating enzyme level	5213	PFKM	OMIM:232800
HP:0011021	Abnormality of circulating enzyme level	3339	HSPG2	OMIM:255800
HP:0011021	Abnormality of circulating enzyme level	3339	HSPG2	ORPHA:800
HP:0011021	Abnormality of circulating enzyme level	8813	DPM1	ORPHA:79322
HP:0011021	Abnormality of circulating enzyme level	8813	DPM1	OMIM:608799
HP:0011021	Abnormality of circulating enzyme level	9526	MPDU1	ORPHA:79323
HP:0011021	Abnormality of circulating enzyme level	5837	PYGM	ORPHA:368
HP:0011021	Abnormality of circulating enzyme level	5837	PYGM	OMIM:232600
HP:0011021	Abnormality of circulating enzyme level	4633	MYL2	OMIM:619424
HP:0011021	Abnormality of circulating enzyme level	5256	PHKA2	ORPHA:264580
HP:0011021	Abnormality of circulating enzyme level	5261	PHKG2	ORPHA:264580
HP:0011021	Abnormality of circulating enzyme level	51693	TRAPPC2L	OMIM:618331
HP:0011021	Abnormality of circulating enzyme level	58497	PRUNE1	ORPHA:544469
HP:0011021	Abnormality of circulating enzyme level	6443	SGCB	ORPHA:119
HP:0011021	Abnormality of circulating enzyme level	6443	SGCB	OMIM:604286
HP:0011021	Abnormality of circulating enzyme level	389827	MYMK	OMIM:254940
HP:0011021	Abnormality of circulating enzyme level	8803	SUCLA2	ORPHA:1933
HP:0011021	Abnormality of circulating enzyme level	8803	SUCLA2	OMIM:612073
HP:0011021	Abnormality of circulating enzyme level	58	ACTA1	ORPHA:97240
HP:0011021	Abnormality of circulating enzyme level	58	ACTA1	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	291	SLC25A4	ORPHA:254892
HP:0011021	Abnormality of circulating enzyme level	291	SLC25A4	OMIM:615418
HP:0011021	Abnormality of circulating enzyme level	5428	POLG	ORPHA:254892
HP:0011021	Abnormality of circulating enzyme level	5428	POLG	OMIM:258450
HP:0011021	Abnormality of circulating enzyme level	5428	POLG	ORPHA:254886
HP:0011021	Abnormality of circulating enzyme level	11232	POLG2	ORPHA:254892
HP:0011021	Abnormality of circulating enzyme level	11232	POLG2	OMIM:610131
HP:0011021	Abnormality of circulating enzyme level	50484	RRM2B	ORPHA:254892
HP:0011021	Abnormality of circulating enzyme level	353116	RILPL1	OMIM:619790
HP:0011021	Abnormality of circulating enzyme level	10020	GNE	OMIM:605820
HP:0011021	Abnormality of circulating enzyme level	23516	SLC39A14	OMIM:617013
HP:0011021	Abnormality of circulating enzyme level	160418	TMTC3	OMIM:617255
HP:0011021	Abnormality of circulating enzyme level	79912	PYROXD1	OMIM:617258
HP:0011021	Abnormality of circulating enzyme level	203547	VMA21	OMIM:310440
HP:0011021	Abnormality of circulating enzyme level	10102	TSFM	OMIM:610505
HP:0011021	Abnormality of circulating enzyme level	6442	SGCA	OMIM:608099
HP:0011021	Abnormality of circulating enzyme level	6442	SGCA	ORPHA:62
HP:0011021	Abnormality of circulating enzyme level	10049	DNAJB6	OMIM:603511
HP:0011021	Abnormality of circulating enzyme level	1120	CHKB	OMIM:602541
HP:0011021	Abnormality of circulating enzyme level	7555	CNBP	OMIM:602668
HP:0011021	Abnormality of circulating enzyme level	7084	TK2	ORPHA:254886
HP:0011021	Abnormality of circulating enzyme level	7084	TK2	OMIM:617069
HP:0011021	Abnormality of circulating enzyme level	7084	TK2	OMIM:609560
HP:0011021	Abnormality of circulating enzyme level	3714	JAG2	OMIM:619566
HP:0011021	Abnormality of circulating enzyme level	729920	CRPPA	OMIM:616052
HP:0011021	Abnormality of circulating enzyme level	729920	CRPPA	OMIM:614643
HP:0011021	Abnormality of circulating enzyme level	92667	MGME1	OMIM:615084
HP:0011021	Abnormality of circulating enzyme level	92667	MGME1	ORPHA:352447
HP:0011021	Abnormality of circulating enzyme level	8867	SYNJ1	OMIM:617389
HP:0011021	Abnormality of circulating enzyme level	63895	PIEZO2	OMIM:617146
HP:0011021	Abnormality of circulating enzyme level	3939	LDHA	OMIM:612933
HP:0011021	Abnormality of circulating enzyme level	2027	ENO3	OMIM:612932
HP:0011021	Abnormality of circulating enzyme level	54344	DPM3	OMIM:612937
HP:0011021	Abnormality of circulating enzyme level	6904	TBCD	ORPHA:496641
HP:0011021	Abnormality of circulating enzyme level	6904	TBCD	OMIM:617193
HP:0011021	Abnormality of circulating enzyme level	427	ASAH1	OMIM:159950
HP:0011021	Abnormality of circulating enzyme level	8878	SQSTM1	OMIM:617158
HP:0011021	Abnormality of circulating enzyme level	513	ATP5F1D	OMIM:618120
HP:0011021	Abnormality of circulating enzyme level	2010	EMD	OMIM:310300
HP:0011021	Abnormality of circulating enzyme level	2010	EMD	ORPHA:98863
HP:0011021	Abnormality of circulating enzyme level	6821	SUOX	OMIM:272300
HP:0011021	Abnormality of circulating enzyme level	112812	FDX2	OMIM:251900
HP:0011021	Abnormality of circulating enzyme level	191	AHCY	ORPHA:88618
HP:0011021	Abnormality of circulating enzyme level	6329	SCN4A	ORPHA:682
HP:0011021	Abnormality of circulating enzyme level	6329	SCN4A	OMIM:608390
HP:0011021	Abnormality of circulating enzyme level	84892	POMGNT2	OMIM:618135
HP:0011021	Abnormality of circulating enzyme level	7317	UBA1	OMIM:301830
HP:0011021	Abnormality of circulating enzyme level	58472	SQOR	OMIM:619221
HP:0011021	Abnormality of circulating enzyme level	2992	GYG1	OMIM:616199
HP:0011021	Abnormality of circulating enzyme level	390594	KBTBD13	OMIM:609273
HP:0011021	Abnormality of circulating enzyme level	3908	LAMA2	OMIM:618138
HP:0011021	Abnormality of circulating enzyme level	3908	LAMA2	OMIM:607855
HP:0011021	Abnormality of circulating enzyme level	8398	PLA2G6	OMIM:612953
HP:0011021	Abnormality of circulating enzyme level	8425	LTBP4	ORPHA:98896
HP:0011021	Abnormality of circulating enzyme level	65260	COA7	OMIM:618387
HP:0011021	Abnormality of circulating enzyme level	51241	COX16	OMIM:619355
HP:0011021	Abnormality of circulating enzyme level	37	ACADVL	OMIM:201475
HP:0011021	Abnormality of circulating enzyme level	37	ACADVL	ORPHA:26793
HP:0011021	Abnormality of circulating enzyme level	55697	VAC14	OMIM:617054
HP:0011021	Abnormality of circulating enzyme level	100996717	NOTCH2NLC	OMIM:619473
HP:0011021	Abnormality of circulating enzyme level	788	SLC25A20	OMIM:212138
HP:0011021	Abnormality of circulating enzyme level	7504	XK	OMIM:300842
HP:0011021	Abnormality of circulating enzyme level	23230	VPS13A	OMIM:200150
HP:0011021	Abnormality of circulating enzyme level	23230	VPS13A	ORPHA:2388
HP:0011021	Abnormality of circulating enzyme level	6786	STIM1	OMIM:185070
HP:0011021	Abnormality of circulating enzyme level	6786	STIM1	OMIM:160565
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	OMIM:300718
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	OMIM:300717
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	OMIM:300696
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	OMIM:300695
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	ORPHA:98863
HP:0011021	Abnormality of circulating enzyme level	2273	FHL1	OMIM:300280
HP:0011021	Abnormality of circulating enzyme level	226	ALDOA	OMIM:611881
HP:0011021	Abnormality of circulating enzyme level	3030	HADHA	OMIM:609015
HP:0011021	Abnormality of circulating enzyme level	1291	COL6A1	ORPHA:610
HP:0011021	Abnormality of circulating enzyme level	1291	COL6A1	OMIM:158810
HP:0011021	Abnormality of circulating enzyme level	1291	COL6A1	ORPHA:75840
HP:0011021	Abnormality of circulating enzyme level	1292	COL6A2	ORPHA:610
HP:0011021	Abnormality of circulating enzyme level	1292	COL6A2	OMIM:158810
HP:0011021	Abnormality of circulating enzyme level	1292	COL6A2	ORPHA:75840
HP:0011021	Abnormality of circulating enzyme level	1292	COL6A2	OMIM:255600
HP:0011021	Abnormality of circulating enzyme level	1293	COL6A3	ORPHA:610
HP:0011021	Abnormality of circulating enzyme level	1293	COL6A3	OMIM:158810
HP:0011021	Abnormality of circulating enzyme level	1293	COL6A3	ORPHA:75840
HP:0011021	Abnormality of circulating enzyme level	26092	TOR1AIP1	OMIM:617072
HP:0011021	Abnormality of circulating enzyme level	1716	DGUOK	OMIM:617070
HP:0011021	Abnormality of circulating enzyme level	5236	PGM1	OMIM:614921
HP:0011021	Abnormality of circulating enzyme level	1282	COL4A1	OMIM:611773
HP:0011021	Abnormality of circulating enzyme level	1282	COL4A1	OMIM:175780
HP:0011021	Abnormality of circulating enzyme level	1376	CPT2	ORPHA:228302
HP:0011021	Abnormality of circulating enzyme level	1376	CPT2	ORPHA:228305
HP:0011021	Abnormality of circulating enzyme level	1376	CPT2	ORPHA:228308
HP:0011021	Abnormality of circulating enzyme level	1376	CPT2	OMIM:600649
HP:0011021	Abnormality of circulating enzyme level	1376	CPT2	OMIM:608836
HP:0011021	Abnormality of circulating enzyme level	779	CACNA1S	OMIM:620246
HP:0011021	Abnormality of circulating enzyme level	2801	GOLGA2	OMIM:620240
HP:0011021	Abnormality of circulating enzyme level	9054	NFS1	OMIM:619386
HP:0011021	Abnormality of circulating enzyme level	125170	MIEF2	OMIM:619024
HP:0011021	Abnormality of circulating enzyme level	90523	MLIP	OMIM:620138
HP:0011021	Abnormality of circulating enzyme level	23224	SYNE2	OMIM:612999
HP:0011021	Abnormality of circulating enzyme level	23224	SYNE2	ORPHA:98853
HP:0011021	Abnormality of circulating enzyme level	23345	SYNE1	OMIM:612998
HP:0011021	Abnormality of circulating enzyme level	23345	SYNE1	ORPHA:98853
HP:0011021	Abnormality of circulating enzyme level	203859	ANO5	OMIM:611307
HP:0011021	Abnormality of circulating enzyme level	203859	ANO5	ORPHA:206549
HP:0011021	Abnormality of circulating enzyme level	203859	ANO5	OMIM:613319
HP:0011021	Abnormality of circulating enzyme level	9987	HNRNPDL	OMIM:609115
HP:0011021	Abnormality of circulating enzyme level	6584	SLC22A5	OMIM:212140
HP:0011021	Abnormality of circulating enzyme level	64374	SIL1	OMIM:248800
HP:0011021	Abnormality of circulating enzyme level	3691	ITGB4	ORPHA:158684
HP:0011021	Abnormality of circulating enzyme level	80308	FLAD1	OMIM:255100
HP:0011021	Abnormality of circulating enzyme level	9782	MATR3	OMIM:606070
HP:0011021	Abnormality of circulating enzyme level	6840	SVIL	OMIM:619040
HP:0011021	Abnormality of circulating enzyme level	7169	TPM2	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	4703	NEB	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	10324	KLHL41	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	56203	LMOD3	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	1073	CFL2	ORPHA:171436
HP:0011021	Abnormality of circulating enzyme level	23600	AMACR	ORPHA:79095
HP:0011021	Abnormality of circulating enzyme level	2673	GFPT1	ORPHA:353327
HP:0011021	Abnormality of circulating enzyme level	1798	DPAGT1	ORPHA:353327
HP:0011021	Abnormality of circulating enzyme level	85365	ALG2	ORPHA:353327
HP:0011021	Abnormality of circulating enzyme level	199857	ALG14	ORPHA:353327
HP:0011021	Abnormality of circulating enzyme level	3736	KCNA1	ORPHA:972
HP:0011021	Abnormality of circulating enzyme level	3736	KCNA1	OMIM:160120
HP:0011021	Abnormality of circulating enzyme level	116228	COX20	OMIM:619054
HP:0011021	Abnormality of circulating enzyme level	100131801	PET100	OMIM:619055
HP:0011021	Abnormality of circulating enzyme level	55858	TMEM165	OMIM:614727
HP:0011021	Abnormality of circulating enzyme level	29967	LRP12	OMIM:164310
HP:0011021	Abnormality of circulating enzyme level	9570	GOSR2	OMIM:620166
HP:0011021	Abnormality of circulating enzyme level	9570	GOSR2	OMIM:614018
HP:0011021	Abnormality of circulating enzyme level	7156	TOP3A	OMIM:618098
HP:0011021	Abnormality of circulating enzyme level	9131	AIFM1	OMIM:310490
HP:0011021	Abnormality of circulating enzyme level	4598	MVK	OMIM:610377
HP:0011021	Abnormality of circulating enzyme level	374393	FAM111B	OMIM:615704
HP:0011021	Abnormality of circulating enzyme level	4952	OCRL	OMIM:300555
HP:0011021	Abnormality of circulating enzyme level	4952	OCRL	OMIM:309000
HP:0011021	Abnormality of circulating enzyme level	5255	PHKA1	OMIM:300559
HP:0011021	Abnormality of circulating enzyme level	3991	LIPE	ORPHA:435660
HP:0011021	Abnormality of circulating enzyme level	3991	LIPE	OMIM:615980
HP:0011021	Abnormality of circulating enzyme level	23533	PIK3R5	ORPHA:64753
HP:0011021	Abnormality of circulating enzyme level	23064	SETX	ORPHA:64753
HP:0011021	Abnormality of circulating enzyme level	23064	SETX	OMIM:606002
HP:0011021	Abnormality of circulating enzyme level	4744	NEFH	OMIM:616924
HP:0011021	Abnormality of circulating enzyme level	6804	STX1A	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	7461	CLIP2	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	84277	DNAJC30	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	8468	FKBP6	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	5982	RFC2	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	2969	GTF2I	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	3984	LIMK1	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	9569	GTF2IRD1	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	155382	VPS37D	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	155368	METTL27	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	114049	BUD23	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	7458	EIF4H	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	84163	GTF2IRD2	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	9275	BCL7B	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	26608	TBL2	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	653361	NCF1	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	135886	TMEM270	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	51085	MLXIPL	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	9031	BAZ1B	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	2006	ELN	ORPHA:904
HP:0011021	Abnormality of circulating enzyme level	84992	PIGY	OMIM:616809
HP:0011021	Abnormality of circulating enzyme level	23175	LPIN1	OMIM:268200
HP:0011021	Abnormality of circulating enzyme level	6566	SLC16A1	OMIM:245340
HP:0011021	Abnormality of circulating enzyme level	2548	GAA	ORPHA:308552
HP:0011021	Abnormality of circulating enzyme level	2548	GAA	OMIM:232300
HP:0011021	Abnormality of circulating enzyme level	1299	COL9A3	OMIM:600969
HP:0011021	Abnormality of circulating enzyme level	5165	PDK3	ORPHA:352675
HP:0011021	Abnormality of circulating enzyme level	11149	BVES	OMIM:616812
HP:0011021	Abnormality of circulating enzyme level	3178	HNRNPA1	ORPHA:52430
HP:0011021	Abnormality of circulating enzyme level	3178	HNRNPA1	OMIM:615424
HP:0011021	Abnormality of circulating enzyme level	3181	HNRNPA2B1	ORPHA:52430
HP:0011021	Abnormality of circulating enzyme level	3181	HNRNPA2B1	OMIM:615422
HP:0011021	Abnormality of circulating enzyme level	34	ACADM	ORPHA:42
HP:0011021	Abnormality of circulating enzyme level	1374	CPT1A	OMIM:255120
HP:0011021	Abnormality of circulating enzyme level	84317	CCDC115	OMIM:616828
HP:0011021	Abnormality of circulating enzyme level	2318	FLNC	OMIM:609524
HP:0011021	Abnormality of circulating enzyme level	55679	LIMS2	OMIM:616827
HP:0011021	Abnormality of circulating enzyme level	23479	ISCU	OMIM:255125
HP:0011021	Abnormality of circulating enzyme level	3679	ITGA7	OMIM:613204
HP:0011021	Abnormality of circulating enzyme level	284119	CAVIN1	OMIM:613327
HP:0011021	Abnormality of circulating enzyme level	79188	TMEM43	ORPHA:98853
HP:0011021	Abnormality of circulating enzyme level	132	ADK	OMIM:614300
HP:0011021	Abnormality of circulating enzyme level	79650	USB1	OMIM:604173
HP:0011021	Abnormality of circulating enzyme level	55593	OTUD5	OMIM:301056
HP:0011021	Abnormality of circulating enzyme level	84876	ORAI1	OMIM:615883
HP:0011021	Abnormality of circulating enzyme level	27235	COQ2	OMIM:607426
HP:0011021	Abnormality of circulating enzyme level	55033	FKBP14	ORPHA:300179
HP:0011021	Abnormality of circulating enzyme level	10616	RBCK1	OMIM:615895
HP:0011021	Abnormality of circulating enzyme level	708	C1QBP	OMIM:617713
HP:0011021	Abnormality of circulating enzyme level	5257	PHKB	ORPHA:79240
HP:0011021	Abnormality of circulating enzyme level	128989	TANGO2	ORPHA:480864
HP:0011021	Abnormality of circulating enzyme level	128989	TANGO2	OMIM:616878
HP:0011021	Abnormality of circulating enzyme level	84342	COG8	OMIM:611182
HP:0011021	Abnormality of circulating enzyme level	57511	COG6	OMIM:614576
HP:0011021	Abnormality of circulating enzyme level	64423	INF2	OMIM:614455
HP:0011021	Abnormality of circulating enzyme level	760	CA2	ORPHA:2785
HP:0011021	Abnormality of circulating enzyme level	10755	GIPC1	OMIM:618940
HP:0011021	Abnormality of circulating enzyme level	10367	MICU1	OMIM:615673
HP:0011021	Abnormality of circulating enzyme level	81689	ISCA1	OMIM:617613
HP:0011021	Abnormality of circulating enzyme level	55278	QRSL1	OMIM:618835
HP:0011021	Abnormality of circulating enzyme level	5188	GATB	OMIM:618838
HP:0011021	Abnormality of circulating enzyme level	283459	GATC	OMIM:618839
HP:0011021	Abnormality of circulating enzyme level	54888	NSUN2	OMIM:611091
HP:0011021	Abnormality of circulating enzyme level	3920	LAMP2	OMIM:300257
HP:0011021	Abnormality of circulating enzyme level	178	AGL	OMIM:232400
HP:0011021	Abnormality of circulating enzyme level	29928	TIMM22	OMIM:618851
HP:0011021	Abnormality of circulating enzyme level	4747	NEFL	OMIM:617882
HP:0011021	Abnormality of circulating enzyme level	9907	AP5Z1	ORPHA:306511
HP:0011021	Abnormality of circulating enzyme level	51763	INPP5K	OMIM:617404
HP:0011021	Abnormality of circulating enzyme level	8449	DHX16	OMIM:618733
HP:0011021	Abnormality of circulating enzyme level	367	AR	OMIM:313200
HP:0011021	Abnormality of circulating enzyme level	284217	LAMA1	ORPHA:370022
HP:0011021	Abnormality of circulating enzyme level	7072	TIA1	OMIM:604454
HP:0011021	Abnormality of circulating enzyme level	7072	TIA1	ORPHA:603
HP:0011021	Abnormality of circulating enzyme level	79784	MYH14	ORPHA:397744
HP:0011021	Abnormality of circulating enzyme level	79784	MYH14	OMIM:614369
HP:0011021	Abnormality of circulating enzyme level	100134444	KCNJ18	ORPHA:79102
HP:0011021	Abnormality of circulating enzyme level	2556	GABRA3	ORPHA:79102
HP:0011021	Abnormality of circulating enzyme level	274	BIN1	ORPHA:169189
HP:0011021	Abnormality of circulating enzyme level	64419	MTMR14	ORPHA:169189
HP:0011021	Abnormality of circulating enzyme level	64419	MTMR14	OMIM:160150
HP:0011021	Abnormality of circulating enzyme level	4618	MYF6	ORPHA:169189
HP:0011021	Abnormality of circulating enzyme level	4568	MT-TL2	ORPHA:663
HP:0011021	Abnormality of circulating enzyme level	4567	MT-TL1	ORPHA:663
HP:0011021	Abnormality of circulating enzyme level	4570	MT-TN	ORPHA:663
HP:0011021	Abnormality of circulating enzyme level	4574	MT-TS1	ORPHA:663
HP:0011021	Abnormality of circulating enzyme level	54870	QRICH1	OMIM:617982
HP:0011021	Abnormality of circulating enzyme level	10730	YME1L1	OMIM:617302
HP:0011021	Abnormality of circulating enzyme level	3033	HADH	ORPHA:71212
HP:0011021	Abnormality of circulating enzyme level	4358	MPV17	OMIM:618400
HP:0011021	Abnormality of circulating enzyme level	122622	ADSS1	OMIM:617030
HP:0011021	Abnormality of circulating enzyme level	57449	PLEKHG5	OMIM:615376
HP:0011021	Abnormality of circulating enzyme level	7170	TPM3	ORPHA:171439
HP:0011021	Abnormality of circulating enzyme level	55681	SCYL2	ORPHA:1143
HP:0011021	Abnormality of circulating enzyme level	84570	COL25A1	ORPHA:1143
HP:0011021	Abnormality of circulating enzyme level	57222	ERGIC1	ORPHA:1143
HP:0011021	Abnormality of circulating enzyme level	5190	PEX6	ORPHA:95433
HP:0011021	Abnormality of circulating enzyme level	10008	KCNE3	ORPHA:681
HP:0011021	Abnormality of circulating enzyme level	4556	MT-TE	ORPHA:254864
HP:0011021	Abnormality of circulating enzyme level	55687	TRMU	ORPHA:254864
HP:0011021	Abnormality of circulating enzyme level	9325	TRIP4	ORPHA:486815
HP:0011021	Abnormality of circulating enzyme level	285489	DOK7	OMIM:254300
HP:0011021	Abnormality of circulating enzyme level	270	AMPD1	ORPHA:45
HP:0011021	Abnormality of circulating enzyme level	272	AMPD3	ORPHA:45
HP:0011021	Abnormality of circulating enzyme level	28976	ACAD9	ORPHA:99901
HP:0011021	Abnormality of circulating enzyme level	51181	DCXR	ORPHA:2843
HP:0011021	Abnormality of circulating enzyme level	79783	SUGCT	ORPHA:35706
HP:0011021	Abnormality of circulating enzyme level	10157	AASS	ORPHA:3124
HP:0011021	Abnormality of circulating enzyme level	189	AGXT	ORPHA:93598
HP:0011021	Abnormality of circulating enzyme level	64208	POPDC3	OMIM:618848
HP:0011021	Abnormality of circulating enzyme level	4512	MT-CO1	ORPHA:99845
HP:0011021	Abnormality of circulating enzyme level	4514	MT-CO3	ORPHA:99845
HP:0011021	Abnormality of circulating enzyme level	10463	SLC30A9	OMIM:617595
HP:0011021	Abnormality of circulating enzyme level	1272	CNTN1	OMIM:612540
HP:0011021	Abnormality of circulating enzyme level	51099	ABHD5	ORPHA:98907
HP:0011021	Abnormality of circulating enzyme level	2632	GBE1	OMIM:232500
HP:0011021	Abnormality of circulating enzyme level	9997	SCO2	ORPHA:521411
HP:0011021	Abnormality of circulating enzyme level	10290	SPEG	OMIM:615959
HP:0011021	Abnormality of circulating enzyme level	90624	LYRM7	OMIM:615838
HP:0011021	Abnormality of circulating enzyme level	57731	SPTBN4	OMIM:617519
HP:0011021	Abnormality of circulating enzyme level	9990	SLC12A6	OMIM:620068
HP:0011021	Abnormality of circulating enzyme level	124093	CCDC78	OMIM:614807
HP:0011021	Abnormality of circulating enzyme level	55958	KLHL9	ORPHA:399081
HP:0011021	Abnormality of circulating enzyme level	4632	MYL1	OMIM:618414
HP:0011021	Abnormality of circulating enzyme level	9200	HACD1	OMIM:619967
HP:0011021	Abnormality of circulating enzyme level	10329	RXYLT1	ORPHA:899
HP:0001702	Abnormal tricuspid valve morphology	9897	WASHC5	ORPHA:7
HP:0001702	Abnormal tricuspid valve morphology	28952	CCDC22	ORPHA:7
HP:0001702	Abnormal tricuspid valve morphology	6197	RPS6KA3	ORPHA:192
HP:0001702	Abnormal tricuspid valve morphology	3423	IDS	ORPHA:217085
HP:0001702	Abnormal tricuspid valve morphology	3423	IDS	ORPHA:217093
HP:0001702	Abnormal tricuspid valve morphology	55109	AGGF1	ORPHA:90308
HP:0001702	Abnormal tricuspid valve morphology	64359	NXN	ORPHA:1507
HP:0001702	Abnormal tricuspid valve morphology	4920	ROR2	ORPHA:1507
HP:0001702	Abnormal tricuspid valve morphology	118856	MMP21	OMIM:616749
HP:0001702	Abnormal tricuspid valve morphology	1277	COL1A1	ORPHA:287
HP:0001702	Abnormal tricuspid valve morphology	1289	COL5A1	ORPHA:287
HP:0001702	Abnormal tricuspid valve morphology	1290	COL5A2	ORPHA:287
HP:0001702	Abnormal tricuspid valve morphology	7703	PCGF2	OMIM:618371
HP:0001702	Abnormal tricuspid valve morphology	113189	CHST14	OMIM:601776
HP:0001702	Abnormal tricuspid valve morphology	2200	FBN1	OMIM:154700
HP:0001702	Abnormal tricuspid valve morphology	2200	FBN1	ORPHA:284979
HP:0001702	Abnormal tricuspid valve morphology	2260	FGFR1	ORPHA:2396
HP:0001702	Abnormal tricuspid valve morphology	3845	KRAS	ORPHA:2396
HP:0001702	Abnormal tricuspid valve morphology	3845	KRAS	OMIM:609942
HP:0001702	Abnormal tricuspid valve morphology	54539	NDUFB11	ORPHA:2556
HP:0001702	Abnormal tricuspid valve morphology	1349	COX7B	ORPHA:2556
HP:0001702	Abnormal tricuspid valve morphology	3052	HCCS	ORPHA:2556
HP:0001702	Abnormal tricuspid valve morphology	2316	FLNA	OMIM:314400
HP:0001702	Abnormal tricuspid valve morphology	57158	JPH2	OMIM:619492
HP:0001702	Abnormal tricuspid valve morphology	7528	YY1	ORPHA:506358
HP:0001702	Abnormal tricuspid valve morphology	4841	NONO	ORPHA:466791
HP:0001702	Abnormal tricuspid valve morphology	2623	GATA1	OMIM:190685
HP:0001702	Abnormal tricuspid valve morphology	7168	TPM1	OMIM:611878
HP:0001702	Abnormal tricuspid valve morphology	158326	FREM1	OMIM:608980
HP:0001702	Abnormal tricuspid valve morphology	2627	GATA6	OMIM:600001
HP:0001702	Abnormal tricuspid valve morphology	2627	GATA6	ORPHA:2255
HP:0001702	Abnormal tricuspid valve morphology	4625	MYH7	ORPHA:1880
HP:0001702	Abnormal tricuspid valve morphology	5337	PLD1	OMIM:212093
HP:0001702	Abnormal tricuspid valve morphology	4613	MYCN	OMIM:164280
HP:0001702	Abnormal tricuspid valve morphology	4613	MYCN	ORPHA:391641
HP:0001702	Abnormal tricuspid valve morphology	54916	TMEM260	OMIM:617478
HP:0001702	Abnormal tricuspid valve morphology	1312	COMT	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	221037	JMJD1C	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	2812	GP1BB	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	6239	RREB1	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	6899	TBX1	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	7290	HIRA	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	9632	SEC24C	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	7353	UFD1	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	421	ARVCF	ORPHA:567
HP:0001702	Abnormal tricuspid valve morphology	745	MYRF	OMIM:618280
HP:0001702	Abnormal tricuspid valve morphology	2294	FOXF1	OMIM:265380
HP:0001702	Abnormal tricuspid valve morphology	55636	CHD7	OMIM:214800
HP:0001702	Abnormal tricuspid valve morphology	6885	MAP3K7	OMIM:157800
HP:0031442	Abnormal tricuspid chordae tendinae morphology	2316	FLNA	OMIM:314400
HP:0031445	Oral mucosa nodule	11146	GLMN	ORPHA:83454
HP:0031446	Erosion of oral mucosa	3909	LAMA3	ORPHA:79404
HP:0031446	Erosion of oral mucosa	3918	LAMC2	ORPHA:79404
HP:0031446	Erosion of oral mucosa	3914	LAMB3	ORPHA:79404
HP:0031446	Erosion of oral mucosa	4312	MMP1	ORPHA:79408
HP:0031446	Erosion of oral mucosa	1294	COL7A1	ORPHA:79408
HP:0031446	Erosion of oral mucosa	1294	COL7A1	ORPHA:231568
HP:0031446	Erosion of oral mucosa	1830	DSG3	OMIM:619226
HP:0031446	Erosion of oral mucosa	3852	KRT5	ORPHA:79400
HP:0031446	Erosion of oral mucosa	3861	KRT14	ORPHA:79400
HP:0031447	Penile freckling	56983	POGLUT1	ORPHA:79145
HP:0031447	Penile freckling	3852	KRT5	ORPHA:79145
HP:0031447	Penile freckling	23509	POFUT1	ORPHA:79145
HP:0031447	Penile freckling	55851	PSENEN	ORPHA:79145
HP:0031447	Penile freckling	5728	PTEN	OMIM:605309
HP:0100560	Upper limb asymmetry	3481	IGF2	ORPHA:231140
HP:0100560	Upper limb asymmetry	283120	H19	ORPHA:231140
HP:0100560	Upper limb asymmetry	64840	PORCN	ORPHA:2092
HP:0100560	Upper limb asymmetry	10682	EBP	ORPHA:35173
HP:0100560	Upper limb asymmetry	203068	TUBB	ORPHA:2505
HP:0100560	Upper limb asymmetry	10982	MAPRE2	ORPHA:2505
HP:0100560	Upper limb asymmetry	60	ACTB	ORPHA:64755
HP:0100560	Upper limb asymmetry	55109	AGGF1	ORPHA:90308
HP:0100560	Upper limb asymmetry	5744	PTHLH	ORPHA:93387
HP:0100560	Upper limb asymmetry	3239	HOXD13	ORPHA:93387
HP:0100560	Upper limb asymmetry	5728	PTEN	ORPHA:137608
HP:0100560	Upper limb asymmetry	5728	PTEN	ORPHA:744
HP:0100560	Upper limb asymmetry	207	AKT1	ORPHA:744
HP:0100561	Spinal cord lesion	4921	DDR2	OMIM:271665
HP:0100561	Spinal cord lesion	2294	FOXF1	OMIM:265380
HP:0100561	Spinal cord lesion	3590	IL11RA	OMIM:614188
HP:0100561	Spinal cord lesion	23259	DDHD2	OMIM:615033
HP:0100561	Spinal cord lesion	95	ACY1	ORPHA:137754
HP:0100561	Spinal cord lesion	4774	NFIA	OMIM:613735
HP:0100561	Spinal cord lesion	23028	KDM1A	OMIM:616728
HP:0100561	Spinal cord lesion	25839	COG4	OMIM:618150
HP:0100561	Spinal cord lesion	10743	RAI1	ORPHA:477817
HP:0100561	Spinal cord lesion	1387	CREBBP	ORPHA:353281
HP:0100561	Spinal cord lesion	1387	CREBBP	ORPHA:353277
HP:0100561	Spinal cord lesion	4854	NOTCH3	OMIM:130720
HP:0100561	Spinal cord lesion	4854	NOTCH3	ORPHA:2789
HP:0100561	Spinal cord lesion	92002	CCNQ	ORPHA:140952
HP:0100561	Spinal cord lesion	2033	EP300	ORPHA:353284
HP:0100561	Spinal cord lesion	10978	CLP1	OMIM:615803
HP:0100561	Spinal cord lesion	19	ABCA1	ORPHA:31150
HP:0100561	Spinal cord lesion	2192	FBLN1	ORPHA:404451
HP:0100561	Spinal cord lesion	3190	HNRNPK	OMIM:616580
HP:0100561	Spinal cord lesion	22943	DKK1	ORPHA:268882
HP:0100561	Spinal cord lesion	6678	SPARC	OMIM:616507
HP:0100561	Spinal cord lesion	9939	RBM8A	OMIM:274000
HP:0100561	Spinal cord lesion	2131	EXT1	ORPHA:321
HP:0100561	Spinal cord lesion	2132	EXT2	ORPHA:321
HP:0100561	Spinal cord lesion	8091	HMGA2	ORPHA:94063
HP:0100561	Spinal cord lesion	23592	LEMD3	ORPHA:94063
HP:0100561	Spinal cord lesion	860	RUNX2	OMIM:119600
HP:0100561	Spinal cord lesion	25970	SH2B1	ORPHA:261197
HP:0100561	Spinal cord lesion	4893	NRAS	OMIM:249400
HP:0100561	Spinal cord lesion	29072	SETD2	OMIM:616831
HP:0100561	Spinal cord lesion	80199	FUZ	ORPHA:1136
HP:0100561	Spinal cord lesion	4853	NOTCH2	ORPHA:955
HP:0100561	Spinal cord lesion	6911	TBX6	OMIM:122600
HP:0100561	Spinal cord lesion	1499	CTNNB1	ORPHA:404473
HP:0100561	Spinal cord lesion	6253	RTN2	ORPHA:100993
HP:0100561	Spinal cord lesion	51271	UBAP1	ORPHA:100993
HP:0100561	Spinal cord lesion	51218	GLRX5	ORPHA:401866
HP:0100561	Spinal cord lesion	3839	KPNA3	ORPHA:171612
HP:0100561	Spinal cord lesion	11235	PDCD10	ORPHA:221061
HP:0100561	Spinal cord lesion	83605	CCM2	ORPHA:221061
HP:0100561	Spinal cord lesion	889	KRIT1	ORPHA:221061
HP:0100561	Spinal cord lesion	9897	WASHC5	ORPHA:100989
HP:0100561	Spinal cord lesion	9197	SLC33A1	ORPHA:171863
HP:0100561	Spinal cord lesion	81839	VANGL1	OMIM:600145
HP:0100561	Spinal cord lesion	51360	MBTPS2	OMIM:308205
HP:0100561	Spinal cord lesion	11041	B4GAT1	OMIM:615287
HP:0100565	Hydromyelia	81839	VANGL1	OMIM:600145
HP:0100565	Hydromyelia	51360	MBTPS2	OMIM:308205
HP:0100565	Hydromyelia	11041	B4GAT1	OMIM:615287
HP:0100568	Neoplasm of the endocrine system	355	FAS	ORPHA:3261
HP:0100568	Neoplasm of the endocrine system	356	FASLG	ORPHA:3261
HP:0100568	Neoplasm of the endocrine system	5580	PRKCD	ORPHA:3261
HP:0100568	Neoplasm of the endocrine system	843	CASP10	ORPHA:3261
HP:0100568	Neoplasm of the endocrine system	10125	RASGRP1	ORPHA:3261
HP:0100568	Neoplasm of the endocrine system	4437	MSH3	ORPHA:480536
HP:0100568	Neoplasm of the endocrine system	4437	MSH3	OMIM:617100
HP:0100568	Neoplasm of the endocrine system	3265	HRAS	ORPHA:2874
HP:0100568	Neoplasm of the endocrine system	26585	GREM1	ORPHA:157794
HP:0100568	Neoplasm of the endocrine system	3766	KCNJ10	ORPHA:705
HP:0100568	Neoplasm of the endocrine system	3766	KCNJ10	OMIM:274600
HP:0100568	Neoplasm of the endocrine system	2299	FOXI1	ORPHA:705
HP:0100568	Neoplasm of the endocrine system	2299	FOXI1	OMIM:274600
HP:0100568	Neoplasm of the endocrine system	5172	SLC26A4	ORPHA:705
HP:0100568	Neoplasm of the endocrine system	5172	SLC26A4	OMIM:274600
HP:0100568	Neoplasm of the endocrine system	9817	KEAP1	ORPHA:276399
HP:0100568	Neoplasm of the endocrine system	7486	WRN	ORPHA:902
HP:0100568	Neoplasm of the endocrine system	7038	TG	OMIM:274700
HP:0100568	Neoplasm of the endocrine system	2778	GNAS	OMIM:174800
HP:0100568	Neoplasm of the endocrine system	2778	GNAS	ORPHA:189427
HP:0100568	Neoplasm of the endocrine system	5566	PRKACA	ORPHA:189439
HP:0100568	Neoplasm of the endocrine system	8622	PDE8B	ORPHA:189439
HP:0100568	Neoplasm of the endocrine system	79798	ARMC5	ORPHA:189427
HP:0100568	Neoplasm of the endocrine system	23405	DICER1	OMIM:138800
HP:0100568	Neoplasm of the endocrine system	6597	SMARCA4	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6598	SMARCB1	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6659	SOX4	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	8289	ARID1A	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	5977	DPF2	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6601	SMARCC2	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6602	SMARCD1	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	57492	ARID1B	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	196528	ARID2	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6605	SMARCE1	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	6664	SOX11	ORPHA:1465
HP:0100568	Neoplasm of the endocrine system	182	JAG1	OMIM:118450
HP:0100568	Neoplasm of the endocrine system	201163	FLCN	ORPHA:122
HP:0100568	Neoplasm of the endocrine system	79577	CDC73	ORPHA:99880
HP:0100568	Neoplasm of the endocrine system	79577	CDC73	OMIM:145001
HP:0100568	Neoplasm of the endocrine system	79577	CDC73	ORPHA:99879
HP:0100568	Neoplasm of the endocrine system	846	CASR	OMIM:145980
HP:0100568	Neoplasm of the endocrine system	3418	IDH2	ORPHA:163634
HP:0100568	Neoplasm of the endocrine system	3417	IDH1	ORPHA:163634
HP:0100568	Neoplasm of the endocrine system	9247	GCM2	ORPHA:99879
HP:0100568	Neoplasm of the endocrine system	1188	CLCNKB	ORPHA:358
HP:0100568	Neoplasm of the endocrine system	6559	SLC12A3	ORPHA:358
HP:0100568	Neoplasm of the endocrine system	2304	FOXE1	ORPHA:319487
HP:0100568	Neoplasm of the endocrine system	1028	CDKN1C	OMIM:130650
HP:0100568	Neoplasm of the endocrine system	10984	KCNQ1OT1	OMIM:130650
HP:0100568	Neoplasm of the endocrine system	3481	IGF2	OMIM:130650
HP:0100568	Neoplasm of the endocrine system	3784	KCNQ1	OMIM:130650
HP:0100568	Neoplasm of the endocrine system	84133	ZNRF3	ORPHA:1501
HP:0100568	Neoplasm of the endocrine system	5573	PRKAR1A	ORPHA:1501
HP:0100568	Neoplasm of the endocrine system	1499	CTNNB1	ORPHA:1501
HP:0100568	Neoplasm of the endocrine system	1029	CDKN2A	ORPHA:1501
HP:0100568	Neoplasm of the endocrine system	1029	CDKN2A	ORPHA:524
HP:0100568	Neoplasm of the endocrine system	7015	TERT	ORPHA:1501
HP:0100568	Neoplasm of the endocrine system	4193	MDM2	ORPHA:524
HP:0100568	Neoplasm of the endocrine system	11200	CHEK2	ORPHA:524
HP:0100568	Neoplasm of the endocrine system	7428	VHL	ORPHA:892
HP:0100568	Neoplasm of the endocrine system	7428	VHL	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	7428	VHL	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	595	CCND1	ORPHA:892
HP:0100568	Neoplasm of the endocrine system	1743	DLST	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	4191	MDH2	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	5979	RET	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	5979	RET	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	6389	SDHA	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	23095	KIF1B	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	2271	FH	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	8402	SLC25A11	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	54949	SDHAF2	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	55654	TMEM127	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	4763	NF1	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	6391	SDHC	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	6391	SDHC	OMIM:605373
HP:0100568	Neoplasm of the endocrine system	6392	SDHD	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	6392	SDHD	OMIM:168000
HP:0100568	Neoplasm of the endocrine system	6392	SDHD	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	6390	SDHB	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	6390	SDHB	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	6390	SDHB	OMIM:115310
HP:0100568	Neoplasm of the endocrine system	4149	MAX	ORPHA:29072
HP:0100568	Neoplasm of the endocrine system	1788	DNMT3A	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	2034	EPAS1	ORPHA:276621
HP:0100568	Neoplasm of the endocrine system	3767	KCNJ11	ORPHA:79644
HP:0100568	Neoplasm of the endocrine system	6329	SCN4A	ORPHA:681
HP:0100568	Neoplasm of the endocrine system	779	CACNA1S	ORPHA:681
HP:0100568	Neoplasm of the endocrine system	10008	KCNE3	ORPHA:681
HP:0100568	Neoplasm of the endocrine system	324	APC	OMIM:175100
HP:0100568	Neoplasm of the endocrine system	324	APC	ORPHA:247806
HP:0100568	Neoplasm of the endocrine system	324	APC	ORPHA:79665
HP:0100568	Neoplasm of the endocrine system	84196	USP48	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	7157	TP53	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	9101	USP8	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	64072	CDH23	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	2908	NR3C1	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	673	BRAF	ORPHA:96253
HP:0100568	Neoplasm of the endocrine system	1181	CLCN2	ORPHA:404
HP:0100568	Neoplasm of the endocrine system	1584	CYP11B1	ORPHA:403
HP:0100568	Neoplasm of the endocrine system	1585	CYP11B2	ORPHA:403
HP:0100568	Neoplasm of the endocrine system	8314	BAP1	ORPHA:2495
HP:0100568	Neoplasm of the endocrine system	4771	NF2	ORPHA:2495
HP:0100568	Neoplasm of the endocrine system	5155	PDGFB	ORPHA:2495
HP:0100568	Neoplasm of the endocrine system	84231	TRAF7	ORPHA:2495
HP:0100568	Neoplasm of the endocrine system	51684	SUFU	ORPHA:2495
HP:0100568	Neoplasm of the endocrine system	51726	DNAJB11	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	23193	GANAB	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	5310	PKD1	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	5311	PKD2	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	29880	ALG5	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	9742	IFT140	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	79796	ALG9	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	80114	BICC1	ORPHA:730
HP:0100568	Neoplasm of the endocrine system	83550	GPR101	ORPHA:963
HP:0100568	Neoplasm of the endocrine system	50940	PDE11A	ORPHA:1359
HP:0100568	Neoplasm of the endocrine system	389692	MAFA	OMIM:147630
HP:0100568	Neoplasm of the endocrine system	2642	GCGR	ORPHA:438274
HP:0100568	Neoplasm of the endocrine system	3026	HABP2	OMIM:616535
HP:0100568	Neoplasm of the endocrine system	7080	NKX2-1	OMIM:188550
HP:0100568	Neoplasm of the endocrine system	4893	NRAS	OMIM:188470
HP:0100568	Neoplasm of the endocrine system	57522	SRGAP1	OMIM:188470
HP:0100568	Neoplasm of the endocrine system	9562	MINPP1	OMIM:188470
HP:0100568	Neoplasm of the endocrine system	9049	AIP	OMIM:102200
HP:0100568	Neoplasm of the endocrine system	64218	SEMA4A	ORPHA:440437
HP:0100568	Neoplasm of the endocrine system	657	BMPR1A	ORPHA:440437
HP:0100568	Neoplasm of the endocrine system	6224	RPS20	ORPHA:440437
HP:0100568	Neoplasm of the endocrine system	4072	EPCAM	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	4292	MLH1	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	5395	PMS2	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	27030	MLH3	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	22909	FAN1	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	7048	TGFBR2	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	3845	KRAS	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	5290	PIK3CA	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	5290	PIK3CA	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	2956	MSH6	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	5378	PMS1	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	4436	MSH2	ORPHA:144
HP:0100568	Neoplasm of the endocrine system	215	ABCD1	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	2668	GDNF	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	6608	SMO	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	1889	ECE1	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	6720	SREBF1	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	1908	EDN3	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	223117	SEMA3D	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	538	ATP7A	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	1910	EDNRB	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	10512	SEMA3C	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	2064	ERBB2	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	2065	ERBB3	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	4902	NRTN	ORPHA:388
HP:0100568	Neoplasm of the endocrine system	10483	SEC23B	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	5728	PTEN	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	5728	PTEN	ORPHA:65285
HP:0100568	Neoplasm of the endocrine system	5728	PTEN	ORPHA:137608
HP:0100568	Neoplasm of the endocrine system	207	AKT1	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	205717	USF3	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	100144748	KLLN	ORPHA:201
HP:0100568	Neoplasm of the endocrine system	4000	LMNA	ORPHA:79474
HP:0100568	Neoplasm of the endocrine system	4221	MEN1	ORPHA:652
HP:0100568	Neoplasm of the endocrine system	4221	MEN1	OMIM:131100
HP:0100568	Neoplasm of the endocrine system	1027	CDKN1B	ORPHA:652
HP:0100568	Neoplasm of the endocrine system	1027	CDKN1B	OMIM:610755
HP:0100568	Neoplasm of the endocrine system	1027	CDKN1B	ORPHA:276152
HP:0100568	Neoplasm of the endocrine system	1026	CDKN1A	ORPHA:652
HP:0100568	Neoplasm of the endocrine system	1030	CDKN2B	ORPHA:652
HP:0100568	Neoplasm of the endocrine system	1031	CDKN2C	ORPHA:652
HP:0100568	Neoplasm of the endocrine system	1616	DAXX	ORPHA:100075
HP:0100568	Neoplasm of the endocrine system	546	ATRX	ORPHA:100075
HP:0100568	Neoplasm of the endocrine system	3458	IFNG	ORPHA:805
HP:0100568	Neoplasm of the endocrine system	7248	TSC1	ORPHA:805
HP:0100568	Neoplasm of the endocrine system	7249	TSC2	ORPHA:805
HP:0100568	Neoplasm of the endocrine system	7528	YY1	ORPHA:97279
HP:0100569	Abnormally ossified vertebrae	3955	LFNG	OMIM:609813
HP:0100569	Abnormally ossified vertebrae	3930	LBR	OMIM:215140
HP:0100569	Abnormally ossified vertebrae	168667	BMPER	ORPHA:66637
HP:0100569	Abnormally ossified vertebrae	55112	DYNC2I1	ORPHA:93271
HP:0100569	Abnormally ossified vertebrae	57560	IFT80	ORPHA:93271
HP:0100569	Abnormally ossified vertebrae	57539	WDR35	ORPHA:93271
HP:0100569	Abnormally ossified vertebrae	79659	DYNC2H1	ORPHA:93271
HP:0100569	Abnormally ossified vertebrae	89891	DYNC2I2	ORPHA:93271
HP:0100569	Abnormally ossified vertebrae	1836	SLC26A2	OMIM:600972
HP:0100569	Abnormally ossified vertebrae	2317	FLNB	ORPHA:1190
HP:0100569	Abnormally ossified vertebrae	9321	TRIP11	OMIM:200600
HP:0100569	Abnormally ossified vertebrae	249	ALPL	OMIM:241500
HP:0100569	Abnormally ossified vertebrae	6662	SOX9	ORPHA:140
HP:0100569	Abnormally ossified vertebrae	6662	SOX9	OMIM:114290
HP:0100569	Abnormally ossified vertebrae	1280	COL2A1	ORPHA:93296
HP:0100569	Abnormally ossified vertebrae	579	NKX3-2	OMIM:613330
HP:0100569	Abnormally ossified vertebrae	6399	TRAPPC2	ORPHA:93284
HP:0100569	Abnormally ossified vertebrae	6023	RMRP	ORPHA:175
HP:0100569	Abnormally ossified vertebrae	23592	LEMD3	ORPHA:166119
HP:0100569	Abnormally ossified vertebrae	10682	EBP	ORPHA:35173
HP:0100569	Abnormally ossified vertebrae	3636	INPPL1	ORPHA:2746
HP:0100569	Abnormally ossified vertebrae	100151683	RNU4ATAC	ORPHA:2636
HP:0100569	Abnormally ossified vertebrae	1302	COL11A2	ORPHA:1427
HP:0100569	Abnormally ossified vertebrae	7473	WNT3	ORPHA:3301
HP:0100569	Abnormally ossified vertebrae	340419	RSPO2	ORPHA:3301
HP:0100569	Abnormally ossified vertebrae	3339	HSPG2	ORPHA:800
HP:0100569	Abnormally ossified vertebrae	57020	VPS35L	OMIM:619135
HP:0011031	Abnormality of iron homeostasis	4891	SLC11A2	OMIM:206100
HP:0011031	Abnormality of iron homeostasis	650	BMP2	OMIM:235200
HP:0011031	Abnormality of iron homeostasis	9652	SKIC3	ORPHA:84064
HP:0011031	Abnormality of iron homeostasis	9652	SKIC3	OMIM:222470
HP:0011031	Abnormality of iron homeostasis	6499	SKIC2	ORPHA:84064
HP:0011031	Abnormality of iron homeostasis	212	ALAS2	ORPHA:75563
HP:0011031	Abnormality of iron homeostasis	654	BMP6	ORPHA:465508
HP:0011031	Abnormality of iron homeostasis	3077	HFE	ORPHA:465508
HP:0011031	Abnormality of iron homeostasis	3043	HBB	ORPHA:231222
HP:0011031	Abnormality of iron homeostasis	3043	HBB	ORPHA:231226
HP:0011031	Abnormality of iron homeostasis	3043	HBB	ORPHA:231214
HP:0011031	Abnormality of iron homeostasis	57817	HAMP	ORPHA:79230
HP:0011031	Abnormality of iron homeostasis	148738	HJV	ORPHA:79230
HP:0011031	Abnormality of iron homeostasis	55240	STEAP3	OMIM:615234
HP:0011031	Abnormality of iron homeostasis	54977	SLC25A38	OMIM:205950
HP:0011031	Abnormality of iron homeostasis	2495	FTH1	OMIM:615517
HP:0011031	Abnormality of iron homeostasis	30061	SLC40A1	OMIM:606069
HP:0011031	Abnormality of iron homeostasis	7036	TFR2	OMIM:604250
HP:0011031	Abnormality of iron homeostasis	5313	PKLR	ORPHA:766
HP:0011031	Abnormality of iron homeostasis	617	BCS1L	ORPHA:53693
HP:0011031	Abnormality of iron homeostasis	9493	KIF23	ORPHA:98870
HP:0011031	Abnormality of iron homeostasis	29127	RACGAP1	ORPHA:98870
HP:0011031	Abnormality of iron homeostasis	5825	ABCD3	OMIM:616278
HP:0011031	Abnormality of iron homeostasis	2512	FTL	OMIM:600886
HP:0011031	Abnormality of iron homeostasis	2512	FTL	ORPHA:254704
HP:0011031	Abnormality of iron homeostasis	55532	SLC30A10	ORPHA:309854
HP:0011031	Abnormality of iron homeostasis	64170	CARD9	OMIM:212050
HP:0011031	Abnormality of iron homeostasis	1356	CP	OMIM:604290
HP:0011031	Abnormality of iron homeostasis	1356	CP	ORPHA:48818
HP:0011031	Abnormality of iron homeostasis	51095	TRNT1	OMIM:616959
HP:0011031	Abnormality of iron homeostasis	27086	FOXP1	ORPHA:391372
HP:0011031	Abnormality of iron homeostasis	1294	COL7A1	ORPHA:89842
HP:0011031	Abnormality of iron homeostasis	5277	PIGA	ORPHA:447
HP:0011030	Abnormal blood transition element cation concentration	617	BCS1L	OMIM:603358
HP:0011030	Abnormal blood transition element cation concentration	55240	STEAP3	ORPHA:300298
HP:0011030	Abnormal blood transition element cation concentration	9652	SKIC3	OMIM:222470
HP:0011030	Abnormal blood transition element cation concentration	4891	SLC11A2	OMIM:206100
HP:0011030	Abnormal blood transition element cation concentration	57817	HAMP	OMIM:613313
HP:0011030	Abnormal blood transition element cation concentration	148738	HJV	OMIM:602390
HP:0011030	Abnormal blood transition element cation concentration	7036	TFR2	OMIM:604250
HP:0011030	Abnormal blood transition element cation concentration	3077	HFE	OMIM:235200
HP:0011030	Abnormal blood transition element cation concentration	650	BMP2	OMIM:235200
HP:0011030	Abnormal blood transition element cation concentration	5313	PKLR	ORPHA:766
HP:0011030	Abnormal blood transition element cation concentration	64116	SLC39A8	ORPHA:468699
HP:0011030	Abnormal blood transition element cation concentration	9997	SCO2	ORPHA:521411
HP:0011030	Abnormal blood transition element cation concentration	2495	FTH1	OMIM:615517
HP:0011030	Abnormal blood transition element cation concentration	23545	ATP6V0A2	ORPHA:2834
HP:0011030	Abnormal blood transition element cation concentration	540	ATP7B	OMIM:277900
HP:0011030	Abnormal blood transition element cation concentration	6499	SKIC2	ORPHA:84064
HP:0011030	Abnormal blood transition element cation concentration	212	ALAS2	ORPHA:75563
HP:0011030	Abnormal blood transition element cation concentration	654	BMP6	ORPHA:465508
HP:0011030	Abnormal blood transition element cation concentration	3043	HBB	ORPHA:231222
HP:0011030	Abnormal blood transition element cation concentration	3043	HBB	ORPHA:231226
HP:0011030	Abnormal blood transition element cation concentration	3043	HBB	ORPHA:231214
HP:0011030	Abnormal blood transition element cation concentration	9056	SLC7A7	ORPHA:470
HP:0011030	Abnormal blood transition element cation concentration	1356	CP	ORPHA:48818
HP:0011030	Abnormal blood transition element cation concentration	164656	TMPRSS6	ORPHA:209981
HP:0011030	Abnormal blood transition element cation concentration	22796	COG2	ORPHA:435934
HP:0011030	Abnormal blood transition element cation concentration	22796	COG2	OMIM:617395
HP:0011030	Abnormal blood transition element cation concentration	538	ATP7A	OMIM:304150
HP:0011030	Abnormal blood transition element cation concentration	162	AP1B1	ORPHA:171851
HP:0011030	Abnormal blood transition element cation concentration	162	AP1B1	OMIM:242150
HP:0011030	Abnormal blood transition element cation concentration	1174	AP1S1	ORPHA:171851
HP:0011030	Abnormal blood transition element cation concentration	537	ATP6AP1	OMIM:300972
HP:0011030	Abnormal blood transition element cation concentration	9197	SLC33A1	OMIM:614482
HP:0011030	Abnormal blood transition element cation concentration	54977	SLC25A38	OMIM:205950
HP:0011030	Abnormal blood transition element cation concentration	30061	SLC40A1	OMIM:606069
HP:0011030	Abnormal blood transition element cation concentration	9493	KIF23	ORPHA:98870
HP:0011030	Abnormal blood transition element cation concentration	29127	RACGAP1	ORPHA:98870
HP:0011030	Abnormal blood transition element cation concentration	55532	SLC30A10	OMIM:613280
HP:0011030	Abnormal blood transition element cation concentration	55532	SLC30A10	ORPHA:309854
HP:0011030	Abnormal blood transition element cation concentration	5825	ABCD3	OMIM:616278
HP:0011030	Abnormal blood transition element cation concentration	4312	MMP1	ORPHA:79408
HP:0011030	Abnormal blood transition element cation concentration	1294	COL7A1	ORPHA:79408
HP:0011030	Abnormal blood transition element cation concentration	1294	COL7A1	ORPHA:89842
HP:0011030	Abnormal blood transition element cation concentration	3376	IARS1	ORPHA:541423
HP:0011030	Abnormal blood transition element cation concentration	3376	IARS1	OMIM:617093
HP:0011030	Abnormal blood transition element cation concentration	7780	SLC30A2	OMIM:608118
HP:0011030	Abnormal blood transition element cation concentration	55630	SLC39A4	OMIM:201100
HP:0011030	Abnormal blood transition element cation concentration	2512	FTL	OMIM:600886
HP:0011030	Abnormal blood transition element cation concentration	2512	FTL	ORPHA:254704
HP:0011030	Abnormal blood transition element cation concentration	64170	CARD9	OMIM:212050
HP:0011030	Abnormal blood transition element cation concentration	51095	TRNT1	OMIM:616959
HP:0011030	Abnormal blood transition element cation concentration	27086	FOXP1	ORPHA:391372
HP:0011030	Abnormal blood transition element cation concentration	5277	PIGA	ORPHA:447
HP:0011035	Abnormal renal cortex morphology	54345	SOX18	OMIM:137940
HP:0011035	Abnormal renal cortex morphology	8518	ELP1	OMIM:223900
HP:0011035	Abnormal renal cortex morphology	100147744	RNU7-1	OMIM:619487
HP:0011035	Abnormal renal cortex morphology	5339	PLEC	ORPHA:158684
HP:0011035	Abnormal renal cortex morphology	3691	ITGB4	ORPHA:158684
HP:0011035	Abnormal renal cortex morphology	7428	VHL	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	7428	VHL	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	1743	DLST	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	4191	MDH2	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	5979	RET	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	5979	RET	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	6389	SDHA	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	23095	KIF1B	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	2271	FH	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	8402	SLC25A11	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	54949	SDHAF2	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	55654	TMEM127	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	4763	NF1	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	6391	SDHC	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	6392	SDHD	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	6392	SDHD	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	6390	SDHB	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	6390	SDHB	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	4149	MAX	ORPHA:29072
HP:0011035	Abnormal renal cortex morphology	4582	MUC1	OMIM:174000
HP:0011035	Abnormal renal cortex morphology	1788	DNMT3A	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	2034	EPAS1	ORPHA:276621
HP:0011035	Abnormal renal cortex morphology	2184	FAH	OMIM:276700
HP:0011035	Abnormal renal cortex morphology	4558	MT-TF	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4572	MT-TQ	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4512	MT-CO1	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4513	MT-CO2	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4514	MT-CO3	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4578	MT-TW	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4540	MT-ND5	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4541	MT-ND6	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4535	MT-ND1	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4538	MT-ND4	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4567	MT-TL1	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4574	MT-TS1	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4575	MT-TS2	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	4564	MT-TH	ORPHA:550
HP:0011035	Abnormal renal cortex morphology	5972	REN	OMIM:613092
HP:0011035	Abnormal renal cortex morphology	8270	LAGE3	OMIM:301006
HP:0011035	Abnormal renal cortex morphology	29927	SEC61A1	OMIM:617056
HP:0011035	Abnormal renal cortex morphology	51002	TPRKB	OMIM:617731
HP:0011035	Abnormal renal cortex morphology	10785	WDR4	OMIM:618347
HP:0011035	Abnormal renal cortex morphology	3675	ITGA3	OMIM:614748
HP:0011035	Abnormal renal cortex morphology	1184	CLCN5	OMIM:308990
HP:0011035	Abnormal renal cortex morphology	2542	SLC37A4	OMIM:232220
HP:0011035	Abnormal renal cortex morphology	2542	SLC37A4	OMIM:232240
HP:0011035	Abnormal renal cortex morphology	10651	MTX2	OMIM:619127
HP:0011035	Abnormal renal cortex morphology	50485	SMARCAL1	ORPHA:1830
HP:0011035	Abnormal renal cortex morphology	50485	SMARCAL1	OMIM:242900
HP:0011035	Abnormal renal cortex morphology	65082	VPS33A	OMIM:617303
HP:0011035	Abnormal renal cortex morphology	182	JAG1	OMIM:118450
HP:0011035	Abnormal renal cortex morphology	27235	COQ2	OMIM:607426
HP:0011035	Abnormal renal cortex morphology	2538	G6PC1	OMIM:232200
HP:0011035	Abnormal renal cortex morphology	3911	LAMA5	OMIM:620049
HP:0011035	Abnormal renal cortex morphology	79731	NARS2	OMIM:616239
HP:0011035	Abnormal renal cortex morphology	950	SCARB2	OMIM:254900
HP:0011035	Abnormal renal cortex morphology	1188	CLCNKB	ORPHA:358
HP:0011035	Abnormal renal cortex morphology	6559	SLC12A3	ORPHA:358
HP:0011035	Abnormal renal cortex morphology	7840	ALMS1	ORPHA:64
HP:0011035	Abnormal renal cortex morphology	9056	SLC7A7	ORPHA:470
HP:0011035	Abnormal renal cortex morphology	355	FAS	ORPHA:3261
HP:0011035	Abnormal renal cortex morphology	356	FASLG	ORPHA:3261
HP:0011035	Abnormal renal cortex morphology	5580	PRKCD	ORPHA:3261
HP:0011035	Abnormal renal cortex morphology	843	CASP10	ORPHA:3261
HP:0011035	Abnormal renal cortex morphology	10125	RASGRP1	ORPHA:3261
HP:0011035	Abnormal renal cortex morphology	720	C4A	OMIM:614380
HP:0011035	Abnormal renal cortex morphology	8651	SOCS1	OMIM:619375
HP:0011035	Abnormal renal cortex morphology	3426	CFI	OMIM:610984
HP:0011035	Abnormal renal cortex morphology	50943	FOXP3	OMIM:304790
HP:0011035	Abnormal renal cortex morphology	81494	CFHR5	OMIM:614809
HP:0011035	Abnormal renal cortex morphology	4010	LMX1B	OMIM:161200
HP:0011035	Abnormal renal cortex morphology	4312	MMP1	ORPHA:79408
HP:0011035	Abnormal renal cortex morphology	1294	COL7A1	ORPHA:79408
HP:0011035	Abnormal renal cortex morphology	4311	MME	ORPHA:69063
HP:0011035	Abnormal renal cortex morphology	81603	TRIM8	OMIM:619428
HP:0011035	Abnormal renal cortex morphology	261734	NPHP4	OMIM:606966
HP:0011035	Abnormal renal cortex morphology	51473	DCDC2	ORPHA:84081
HP:0011035	Abnormal renal cortex morphology	91147	TMEM67	ORPHA:84081
HP:0011035	Abnormal renal cortex morphology	91147	TMEM67	OMIM:613550
HP:0011035	Abnormal renal cortex morphology	63929	XPNPEP3	OMIM:613159
HP:0011035	Abnormal renal cortex morphology	27031	NPHP3	OMIM:604387
HP:0011035	Abnormal renal cortex morphology	4867	NPHP1	OMIM:256100
HP:0011035	Abnormal renal cortex morphology	6557	SLC12A1	OMIM:601678
HP:0011035	Abnormal renal cortex morphology	3758	KCNJ1	OMIM:241200
HP:0011035	Abnormal renal cortex morphology	57169	ZNFX1	OMIM:619644
HP:0011035	Abnormal renal cortex morphology	1777	DNASE2	OMIM:619858
HP:0011035	Abnormal renal cortex morphology	712	C1QA	OMIM:613652
HP:0011035	Abnormal renal cortex morphology	5238	PGM3	ORPHA:443811
HP:0011035	Abnormal renal cortex morphology	5238	PGM3	OMIM:615816
HP:0011035	Abnormal renal cortex morphology	718	C3	OMIM:613779
HP:0011035	Abnormal renal cortex morphology	79848	CSPP1	ORPHA:397715
HP:0011035	Abnormal renal cortex morphology	9786	KIAA0586	ORPHA:397715
HP:0011035	Abnormal renal cortex morphology	80184	CEP290	OMIM:610188
HP:0011035	Abnormal renal cortex morphology	9526	MPDU1	OMIM:609180
HP:0011035	Abnormal renal cortex morphology	9526	MPDU1	ORPHA:79323
HP:0011035	Abnormal renal cortex morphology	9091	PIGQ	OMIM:618548
HP:0011035	Abnormal renal cortex morphology	10225	CD96	OMIM:211750
HP:0011035	Abnormal renal cortex morphology	2108	ETFA	OMIM:231680
HP:0011035	Abnormal renal cortex morphology	2109	ETFB	OMIM:231680
HP:0011035	Abnormal renal cortex morphology	2110	ETFDH	OMIM:231680
HP:0011035	Abnormal renal cortex morphology	1028	CDKN1C	OMIM:130650
HP:0011035	Abnormal renal cortex morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011035	Abnormal renal cortex morphology	3481	IGF2	OMIM:130650
HP:0011035	Abnormal renal cortex morphology	3784	KCNQ1	OMIM:130650
HP:0011035	Abnormal renal cortex morphology	2335	FN1	ORPHA:84090
HP:0011035	Abnormal renal cortex morphology	112858	TP53RK	OMIM:617730
HP:0011035	Abnormal renal cortex morphology	396	ARHGDIA	OMIM:615244
HP:0011035	Abnormal renal cortex morphology	396	ARHGDIA	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	51004	COQ6	OMIM:614650
HP:0011035	Abnormal renal cortex morphology	9688	NUP93	OMIM:616892
HP:0011035	Abnormal renal cortex morphology	9688	NUP93	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	100	ADA	OMIM:102700
HP:0011035	Abnormal renal cortex morphology	57122	NUP107	OMIM:616730
HP:0011035	Abnormal renal cortex morphology	57122	NUP107	OMIM:618348
HP:0011035	Abnormal renal cortex morphology	57122	NUP107	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	84520	GON7	OMIM:619603
HP:0011035	Abnormal renal cortex morphology	7490	WT1	OMIM:256370
HP:0011035	Abnormal renal cortex morphology	7490	WT1	OMIM:194080
HP:0011035	Abnormal renal cortex morphology	7490	WT1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	84942	WDR73	OMIM:251300
HP:0011035	Abnormal renal cortex morphology	55644	OSGEP	OMIM:617729
HP:0011035	Abnormal renal cortex morphology	3913	LAMB2	OMIM:609049
HP:0011035	Abnormal renal cortex morphology	51196	PLCE1	OMIM:610725
HP:0011035	Abnormal renal cortex morphology	51196	PLCE1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	4868	NPHS1	OMIM:256300
HP:0011035	Abnormal renal cortex morphology	4868	NPHS1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	23607	CD2AP	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	4643	MYO1E	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	64423	INF2	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	26130	GAPVD1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	51479	ANKFY1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	54443	ANLN	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	5800	PTPRO	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	286204	CRB2	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	23165	NUP205	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	79023	NUP37	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	79902	NUP85	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	1285	COL4A3	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	79934	COQ8B	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	23279	NUP160	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	9863	MAGI2	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	81	ACTN4	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	7225	TRPC6	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	8542	APOL1	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	54885	TBC1D8B	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	7827	NPHS2	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	83478	ARHGAP24	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	5076	PAX2	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	55746	NUP133	ORPHA:656
HP:0011035	Abnormal renal cortex morphology	3075	CFH	OMIM:609814
HP:0011035	Abnormal renal cortex morphology	2625	GATA3	OMIM:146255
HP:0011035	Abnormal renal cortex morphology	51134	CEP83	OMIM:615862
HP:0011035	Abnormal renal cortex morphology	1287	COL4A5	OMIM:301050
HP:0011035	Abnormal renal cortex morphology	977	CD151	OMIM:609057
HP:0011035	Abnormal renal cortex morphology	5828	PEX2	OMIM:614866
HP:0011035	Abnormal renal cortex morphology	284086	NEK8	OMIM:613824
HP:0011035	Abnormal renal cortex morphology	27130	INVS	OMIM:602088
HP:0011035	Abnormal renal cortex morphology	5189	PEX1	OMIM:214100
HP:0011035	Abnormal renal cortex morphology	9652	SKIC3	OMIM:222470
HP:0011035	Abnormal renal cortex morphology	7809	BSND	OMIM:602522
HP:0011035	Abnormal renal cortex morphology	8260	NAA10	OMIM:300855
HP:0011035	Abnormal renal cortex morphology	7249	TSC2	OMIM:613254
HP:0011035	Abnormal renal cortex morphology	3458	IFNG	OMIM:613254
HP:0011035	Abnormal renal cortex morphology	8364	H4C3	OMIM:619758
HP:0011035	Abnormal renal cortex morphology	5087	PBX1	OMIM:617641
HP:0011035	Abnormal renal cortex morphology	26276	VPS33B	OMIM:208085
HP:0011035	Abnormal renal cortex morphology	1186	CLCN7	OMIM:618541
HP:0011035	Abnormal renal cortex morphology	9742	IFT140	OMIM:266920
HP:0011035	Abnormal renal cortex morphology	7289	TULP3	OMIM:619902
HP:0011035	Abnormal renal cortex morphology	199221	DZIP1L	OMIM:617610
HP:0011035	Abnormal renal cortex morphology	199221	DZIP1L	ORPHA:731
HP:0011035	Abnormal renal cortex morphology	25836	NIPBL	OMIM:122470
HP:0011035	Abnormal renal cortex morphology	8449	DHX16	OMIM:618733
HP:0011035	Abnormal renal cortex morphology	10015	PDCD6IP	OMIM:620047
HP:0011035	Abnormal renal cortex morphology	5314	PKHD1	ORPHA:731
HP:0011035	Abnormal renal cortex morphology	10229	COQ7	OMIM:616733
HP:0011035	Abnormal renal cortex morphology	11274	USP18	OMIM:617397
HP:0011035	Abnormal renal cortex morphology	1314	COPA	OMIM:616414
HP:0011035	Abnormal renal cortex morphology	374879	ZNF699	OMIM:619488
HP:0011035	Abnormal renal cortex morphology	10253	SPRY2	OMIM:616818
HP:0011035	Abnormal renal cortex morphology	1286	COL4A4	OMIM:141200
HP:0011035	Abnormal renal cortex morphology	3716	JAK1	OMIM:618999
HP:0011035	Abnormal renal cortex morphology	25959	KANK2	OMIM:617783
HP:0011035	Abnormal renal cortex morphology	2013	EMP2	OMIM:615861
HP:0011035	Abnormal renal cortex morphology	7535	ZAP70	OMIM:617006
HP:0011035	Abnormal renal cortex morphology	8526	DGKE	OMIM:615008
HP:0011035	Abnormal renal cortex morphology	55243	KIRREL1	OMIM:619201
HP:0011035	Abnormal renal cortex morphology	23500	DAAM2	OMIM:619263
HP:0011035	Abnormal renal cortex morphology	79693	YRDC	OMIM:619609
HP:0011035	Abnormal renal cortex morphology	8879	SGPL1	OMIM:617575
HP:0011035	Abnormal renal cortex morphology	9722	NOS1AP	OMIM:619155
HP:0011035	Abnormal renal cortex morphology	10677	AVIL	OMIM:618594
HP:0011035	Abnormal renal cortex morphology	254428	SLC41A1	OMIM:619468
HP:0011035	Abnormal renal cortex morphology	975	CD81	OMIM:613496
HP:0011035	Abnormal renal cortex morphology	57728	WDR19	OMIM:614377
HP:0011035	Abnormal renal cortex morphology	57728	WDR19	OMIM:616307
HP:0011035	Abnormal renal cortex morphology	2212	FCGR2A	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	2213	FCGR2B	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	26191	PTPN22	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	11277	TREX1	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	1493	CTLA4	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	1773	DNASE1	OMIM:152700
HP:0011035	Abnormal renal cortex morphology	1776	DNASE1L3	OMIM:614420
HP:0011035	Abnormal renal cortex morphology	4536	MT-ND2	ORPHA:255210
HP:0011035	Abnormal renal cortex morphology	4537	MT-ND3	ORPHA:255210
HP:0011035	Abnormal renal cortex morphology	4577	MT-TV	ORPHA:255210
HP:0011035	Abnormal renal cortex morphology	4508	MT-ATP6	ORPHA:255210
HP:0011035	Abnormal renal cortex morphology	93649	MYOCD	OMIM:618719
HP:0011035	Abnormal renal cortex morphology	9663	LPIN2	ORPHA:77297
HP:0011035	Abnormal renal cortex morphology	348	APOE	OMIM:611771
HP:0011035	Abnormal renal cortex morphology	25974	MMACHC	ORPHA:79282
HP:0011035	Abnormal renal cortex morphology	7454	WAS	ORPHA:906
HP:0011035	Abnormal renal cortex morphology	7456	WIPF1	ORPHA:906
HP:0011035	Abnormal renal cortex morphology	84823	LMNB2	ORPHA:79087
HP:0011035	Abnormal renal cortex morphology	3115	HLA-DPB1	ORPHA:900
HP:0011035	Abnormal renal cortex morphology	5657	PRTN3	ORPHA:900
HP:0011035	Abnormal renal cortex morphology	3113	HLA-DPA1	ORPHA:900
HP:0011035	Abnormal renal cortex morphology	2303	FOXC2	ORPHA:33001
HP:0011035	Abnormal renal cortex morphology	6928	HNF1B	ORPHA:93111
HP:0011035	Abnormal renal cortex morphology	2717	GLA	ORPHA:324
HP:0011035	Abnormal renal cortex morphology	4556	MT-TE	ORPHA:225
HP:0011035	Abnormal renal cortex morphology	4566	MT-TK	ORPHA:225
HP:0011035	Abnormal renal cortex morphology	23630	KCNE5	ORPHA:86818
HP:0011035	Abnormal renal cortex morphology	2182	ACSL4	ORPHA:86818
HP:0011035	Abnormal renal cortex morphology	9949	AMMECR1	ORPHA:86818
HP:0011035	Abnormal renal cortex morphology	4552	MTRR	ORPHA:2169
HP:0011035	Abnormal renal cortex morphology	4952	OCRL	ORPHA:534
HP:0011035	Abnormal renal cortex morphology	149233	IL23R	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	6775	STAT4	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	3586	IL10	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	4210	MEFV	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	1230	CCR1	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	3592	IL12A	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	3106	HLA-B	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	7099	TLR4	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	3459	IFNGR1	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	337867	UBAC2	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	51752	ERAP1	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	8302	KLRC4	ORPHA:117
HP:0011035	Abnormal renal cortex morphology	4000	LMNA	ORPHA:2348
HP:0011036	Abnormality of renal excretion	83483	PLVAP	OMIM:618183
HP:0011036	Abnormality of renal excretion	10916	MAGED2	OMIM:300971
HP:0011036	Abnormality of renal excretion	261734	NPHP4	OMIM:606996
HP:0011036	Abnormality of renal excretion	261734	NPHP4	OMIM:606966
HP:0011036	Abnormality of renal excretion	1497	CTNS	OMIM:219800
HP:0011036	Abnormality of renal excretion	1187	CLCNKA	OMIM:613090
HP:0011036	Abnormality of renal excretion	1188	CLCNKB	OMIM:613090
HP:0011036	Abnormality of renal excretion	1188	CLCNKB	OMIM:607364
HP:0011036	Abnormality of renal excretion	9071	CLDN10	OMIM:617671
HP:0011036	Abnormality of renal excretion	9365	KL	OMIM:617994
HP:0011036	Abnormality of renal excretion	54757	FAM20A	OMIM:204690
HP:0011036	Abnormality of renal excretion	91147	TMEM67	OMIM:613550
HP:0011036	Abnormality of renal excretion	3766	KCNJ10	OMIM:612780
HP:0011036	Abnormality of renal excretion	6569	SLC34A1	OMIM:616963
HP:0011036	Abnormality of renal excretion	359	AQP2	OMIM:125800
HP:0011036	Abnormality of renal excretion	54585	LZTFL1	OMIM:615994
HP:0011036	Abnormality of renal excretion	3762	KCNJ5	OMIM:613677
HP:0011036	Abnormality of renal excretion	857	CAV1	OMIM:606721
HP:0011036	Abnormality of renal excretion	6557	SLC12A1	OMIM:601678
HP:0011036	Abnormality of renal excretion	7809	BSND	OMIM:602522
HP:0011036	Abnormality of renal excretion	4867	NPHP1	OMIM:266900
HP:0011036	Abnormality of renal excretion	4867	NPHP1	OMIM:256100
HP:0011036	Abnormality of renal excretion	26191	PTPN22	OMIM:222100
HP:0011036	Abnormality of renal excretion	3710	ITPR3	OMIM:222100
HP:0011036	Abnormality of renal excretion	3569	IL6	OMIM:222100
HP:0011036	Abnormality of renal excretion	6927	HNF1A	OMIM:222100
HP:0011036	Abnormality of renal excretion	254428	SLC41A1	OMIM:619468
HP:0011036	Abnormality of renal excretion	6651	SON	OMIM:617140
HP:0011036	Abnormality of renal excretion	554	AVPR2	OMIM:304800
HP:0011036	Abnormality of renal excretion	3758	KCNJ1	OMIM:241200
HP:0011036	Abnormality of renal excretion	1591	CYP24A1	OMIM:143880
HP:0011036	Abnormality of renal excretion	476	ATP1A1	OMIM:618314
HP:0011036	Abnormality of renal excretion	10686	CLDN16	OMIM:248250
HP:0011036	Abnormality of renal excretion	6559	SLC12A3	OMIM:263800
HP:0011036	Abnormality of renal excretion	54938	SARS2	OMIM:613845
HP:0011036	Abnormality of renal excretion	27031	NPHP3	OMIM:604387
HP:0011036	Abnormality of renal excretion	846	CASR	OMIM:239200
HP:0011036	Abnormality of renal excretion	6524	SLC5A2	OMIM:233100
HP:0011036	Abnormality of renal excretion	58528	RRAGD	OMIM:620152
HP:0011036	Abnormality of renal excretion	4582	MUC1	OMIM:174000
HP:0011036	Abnormality of renal excretion	2591	GALNT3	OMIM:211900
HP:0011036	Abnormality of renal excretion	1758	DMP1	ORPHA:289176
HP:0011036	Abnormality of renal excretion	5167	ENPP1	ORPHA:289176
HP:0011036	Abnormality of renal excretion	183	AGT	OMIM:267430
HP:0011036	Abnormality of renal excretion	5972	REN	OMIM:267430
HP:0011036	Abnormality of renal excretion	185	AGTR1	OMIM:267430
HP:0011036	Abnormality of renal excretion	1636	ACE	OMIM:267430
HP:0011036	Abnormality of renal excretion	4629	MYH11	OMIM:619351
HP:0011036	Abnormality of renal excretion	4179	CD46	OMIM:612922
HP:0011036	Abnormality of renal excretion	629	CFB	OMIM:612924
HP:0011036	Abnormality of renal excretion	3426	CFI	OMIM:612923
HP:0011036	Abnormality of renal excretion	7056	THBD	OMIM:612926
HP:0011036	Abnormality of renal excretion	3075	CFH	OMIM:235400
HP:0011036	Abnormality of renal excretion	3078	CFHR1	OMIM:235400
HP:0011036	Abnormality of renal excretion	10878	CFHR3	OMIM:235400
HP:0011036	Abnormality of renal excretion	718	C3	OMIM:612925
HP:0011036	Abnormality of renal excretion	5076	PAX2	ORPHA:97362
HP:0011036	Abnormality of renal excretion	5087	PBX1	ORPHA:97362
HP:0011036	Abnormality of renal excretion	116085	SLC22A12	OMIM:220150
HP:0011036	Abnormality of renal excretion	353	APRT	OMIM:614723
HP:0011036	Abnormality of renal excretion	353	APRT	ORPHA:976
HP:0011036	Abnormality of renal excretion	1235	CCR6	ORPHA:220393
HP:0011036	Abnormality of renal excretion	1490	CCN2	ORPHA:220393
HP:0011036	Abnormality of renal excretion	3663	IRF5	ORPHA:220393
HP:0011036	Abnormality of renal excretion	3123	HLA-DRB1	ORPHA:220393
HP:0011036	Abnormality of renal excretion	23175	LPIN1	ORPHA:99845
HP:0011036	Abnormality of renal excretion	4512	MT-CO1	ORPHA:99845
HP:0011036	Abnormality of renal excretion	4514	MT-CO3	ORPHA:99845
HP:0011036	Abnormality of renal excretion	6261	RYR1	ORPHA:466650
HP:0011036	Abnormality of renal excretion	788	SLC25A20	ORPHA:159
HP:0011036	Abnormality of renal excretion	199221	DZIP1L	ORPHA:731
HP:0011036	Abnormality of renal excretion	5314	PKHD1	ORPHA:731
HP:0011037	Decreased urine output	183	AGT	OMIM:267430
HP:0011037	Decreased urine output	5972	REN	OMIM:267430
HP:0011037	Decreased urine output	185	AGTR1	OMIM:267430
HP:0011037	Decreased urine output	1636	ACE	OMIM:267430
HP:0011037	Decreased urine output	4629	MYH11	OMIM:619351
HP:0011037	Decreased urine output	4179	CD46	OMIM:612922
HP:0011037	Decreased urine output	629	CFB	OMIM:612924
HP:0011037	Decreased urine output	3426	CFI	OMIM:612923
HP:0011037	Decreased urine output	7056	THBD	OMIM:612926
HP:0011037	Decreased urine output	3075	CFH	OMIM:235400
HP:0011037	Decreased urine output	3078	CFHR1	OMIM:235400
HP:0011037	Decreased urine output	10878	CFHR3	OMIM:235400
HP:0011037	Decreased urine output	718	C3	OMIM:612925
HP:0011037	Decreased urine output	5076	PAX2	ORPHA:97362
HP:0011037	Decreased urine output	5087	PBX1	ORPHA:97362
HP:0011037	Decreased urine output	116085	SLC22A12	OMIM:220150
HP:0011037	Decreased urine output	353	APRT	OMIM:614723
HP:0011037	Decreased urine output	353	APRT	ORPHA:976
HP:0011037	Decreased urine output	1235	CCR6	ORPHA:220393
HP:0011037	Decreased urine output	1490	CCN2	ORPHA:220393
HP:0011037	Decreased urine output	3663	IRF5	ORPHA:220393
HP:0011037	Decreased urine output	857	CAV1	ORPHA:220393
HP:0011037	Decreased urine output	3123	HLA-DRB1	ORPHA:220393
HP:0011037	Decreased urine output	23175	LPIN1	ORPHA:99845
HP:0011037	Decreased urine output	4512	MT-CO1	ORPHA:99845
HP:0011037	Decreased urine output	4514	MT-CO3	ORPHA:99845
HP:0011037	Decreased urine output	6261	RYR1	ORPHA:466650
HP:0011037	Decreased urine output	788	SLC25A20	ORPHA:159
HP:0011037	Decreased urine output	199221	DZIP1L	ORPHA:731
HP:0011037	Decreased urine output	5314	PKHD1	ORPHA:731
HP:0011038	Abnormal renal tubular resorption	1497	CTNS	OMIM:219800
HP:0011038	Abnormal renal tubular resorption	1497	CTNS	ORPHA:411634
HP:0011038	Abnormal renal tubular resorption	1497	CTNS	ORPHA:411629
HP:0011038	Abnormal renal tubular resorption	3172	HNF4A	ORPHA:263455
HP:0011038	Abnormal renal tubular resorption	5442	POLRMT	OMIM:619743
HP:0011038	Abnormal renal tubular resorption	4574	MT-TS1	OMIM:220110
HP:0011038	Abnormal renal tubular resorption	4570	MT-TN	OMIM:220110
HP:0011038	Abnormal renal tubular resorption	6834	SURF1	OMIM:220110
HP:0011038	Abnormal renal tubular resorption	50484	RRM2B	OMIM:268315
HP:0011038	Abnormal renal tubular resorption	84334	COA8	ORPHA:436271
HP:0011038	Abnormal renal tubular resorption	2184	FAH	OMIM:276700
HP:0011038	Abnormal renal tubular resorption	6928	HNF1B	ORPHA:93111
HP:0011038	Abnormal renal tubular resorption	6559	SLC12A3	ORPHA:358
HP:0011038	Abnormal renal tubular resorption	617	BCS1L	ORPHA:53693
HP:0011038	Abnormal renal tubular resorption	4952	OCRL	OMIM:309000
HP:0011038	Abnormal renal tubular resorption	5277	PIGA	ORPHA:447
HP:0011038	Abnormal renal tubular resorption	80184	CEP290	OMIM:610188
HP:0011038	Abnormal renal tubular resorption	7809	BSND	ORPHA:89938
HP:0011038	Abnormal renal tubular resorption	7809	BSND	OMIM:602522
HP:0011038	Abnormal renal tubular resorption	1187	CLCNKA	ORPHA:89938
HP:0011038	Abnormal renal tubular resorption	54757	FAM20A	ORPHA:1031
HP:0011038	Abnormal renal tubular resorption	54757	FAM20A	OMIM:204690
HP:0011038	Abnormal renal tubular resorption	4867	NPHP1	OMIM:266900
HP:0011038	Abnormal renal tubular resorption	2591	GALNT3	OMIM:211900
HP:0011038	Abnormal renal tubular resorption	1188	CLCNKB	OMIM:607364
HP:0011038	Abnormal renal tubular resorption	54805	CNNM2	OMIM:613882
HP:0011038	Abnormal renal tubular resorption	2628	GATM	OMIM:134600
HP:0011038	Abnormal renal tubular resorption	8671	SLC4A4	OMIM:604278
HP:0011039	Abnormal helix morphology	80267	EDEM3	OMIM:619493
HP:0011039	Abnormal helix morphology	6611	SMS	ORPHA:3063
HP:0011039	Abnormal helix morphology	84992	PIGY	ORPHA:247262
HP:0011039	Abnormal helix morphology	84720	PIGO	ORPHA:247262
HP:0011039	Abnormal helix morphology	93210	PGAP3	ORPHA:247262
HP:0011039	Abnormal helix morphology	284098	PIGW	ORPHA:247262
HP:0011039	Abnormal helix morphology	27315	PGAP2	ORPHA:247262
HP:0011039	Abnormal helix morphology	55650	PIGV	ORPHA:247262
HP:0011039	Abnormal helix morphology	8367	H4C5	OMIM:619950
HP:0011039	Abnormal helix morphology	94005	PIGS	OMIM:618143
HP:0011039	Abnormal helix morphology	1859	DYRK1A	OMIM:614104
HP:0011039	Abnormal helix morphology	5925	RB1	ORPHA:1587
HP:0011039	Abnormal helix morphology	27125	AFF4	OMIM:616368
HP:0011039	Abnormal helix morphology	5894	RAF1	OMIM:611553
HP:0011039	Abnormal helix morphology	5894	RAF1	ORPHA:648
HP:0011039	Abnormal helix morphology	5604	MAP2K1	ORPHA:1340
HP:0011039	Abnormal helix morphology	3845	KRAS	ORPHA:1340
HP:0011039	Abnormal helix morphology	3845	KRAS	ORPHA:648
HP:0011039	Abnormal helix morphology	3845	KRAS	OMIM:609942
HP:0011039	Abnormal helix morphology	673	BRAF	ORPHA:1340
HP:0011039	Abnormal helix morphology	673	BRAF	OMIM:613706
HP:0011039	Abnormal helix morphology	22800	RRAS2	ORPHA:648
HP:0011039	Abnormal helix morphology	8216	LZTR1	ORPHA:648
HP:0011039	Abnormal helix morphology	6016	RIT1	ORPHA:648
HP:0011039	Abnormal helix morphology	6237	RRAS	ORPHA:648
HP:0011039	Abnormal helix morphology	22808	MRAS	ORPHA:648
HP:0011039	Abnormal helix morphology	200734	SPRED2	ORPHA:648
HP:0011039	Abnormal helix morphology	4893	NRAS	ORPHA:648
HP:0011039	Abnormal helix morphology	6654	SOS1	ORPHA:648
HP:0011039	Abnormal helix morphology	6654	SOS1	OMIM:610733
HP:0011039	Abnormal helix morphology	6655	SOS2	ORPHA:648
HP:0011039	Abnormal helix morphology	5781	PTPN11	ORPHA:648
HP:0011039	Abnormal helix morphology	5922	RASA2	ORPHA:648
HP:0011039	Abnormal helix morphology	9719	ADAMTSL2	OMIM:231050
HP:0011039	Abnormal helix morphology	8405	SPOP	OMIM:618828
HP:0011039	Abnormal helix morphology	1000	CDH2	OMIM:618929
HP:0011039	Abnormal helix morphology	11198	SUPT16H	OMIM:619480
HP:0011039	Abnormal helix morphology	2200	FBN1	OMIM:608328
HP:0011039	Abnormal helix morphology	650	BMP2	ORPHA:261295
HP:0011039	Abnormal helix morphology	6872	TAF1	OMIM:300966
HP:0011039	Abnormal helix morphology	5087	PBX1	OMIM:617641
HP:0011039	Abnormal helix morphology	129563	DIS3L2	ORPHA:2849
HP:0011039	Abnormal helix morphology	64132	XYLT2	ORPHA:85194
HP:0011039	Abnormal helix morphology	25942	SIN3A	OMIM:613406
HP:0011039	Abnormal helix morphology	60	ACTB	OMIM:243310
HP:0011039	Abnormal helix morphology	9949	AMMECR1	OMIM:300990
HP:0011039	Abnormal helix morphology	9488	PIGB	OMIM:618580
HP:0011039	Abnormal helix morphology	10771	ZMYND11	OMIM:616083
HP:0011039	Abnormal helix morphology	8243	SMC1A	OMIM:301044
HP:0011039	Abnormal helix morphology	253738	EBF3	OMIM:617330
HP:0011039	Abnormal helix morphology	6909	TBX2	OMIM:618223
HP:0011039	Abnormal helix morphology	8260	NAA10	OMIM:309800
HP:0011039	Abnormal helix morphology	54880	BCOR	OMIM:309800
HP:0011039	Abnormal helix morphology	2187	FANCB	OMIM:300514
HP:0011039	Abnormal helix morphology	6228	RPS23	OMIM:617412
HP:0011039	Abnormal helix morphology	4774	NFIA	OMIM:613735
HP:0011039	Abnormal helix morphology	1836	SLC26A2	ORPHA:628
HP:0011039	Abnormal helix morphology	8085	KMT2D	OMIM:620186
HP:0011039	Abnormal helix morphology	79848	CSPP1	ORPHA:397715
HP:0011039	Abnormal helix morphology	9786	KIAA0586	ORPHA:397715
HP:0011039	Abnormal helix morphology	283209	PGM2L1	OMIM:620191
HP:0011039	Abnormal helix morphology	284252	KCTD1	OMIM:181270
HP:0011039	Abnormal helix morphology	10682	EBP	OMIM:300960
HP:0011039	Abnormal helix morphology	1457	CSNK2A1	OMIM:617062
HP:0011039	Abnormal helix morphology	7204	TRIO	OMIM:617061
HP:0011039	Abnormal helix morphology	23556	PIGN	ORPHA:280633
HP:0011039	Abnormal helix morphology	23556	PIGN	OMIM:614080
HP:0011039	Abnormal helix morphology	203068	TUBB	OMIM:156610
HP:0011039	Abnormal helix morphology	55617	TASP1	OMIM:618950
HP:0011039	Abnormal helix morphology	91179	SCARF2	OMIM:600920
HP:0011039	Abnormal helix morphology	51339	DACT1	OMIM:617466
HP:0011039	Abnormal helix morphology	51339	DACT1	ORPHA:857
HP:0011039	Abnormal helix morphology	53335	BCL11A	OMIM:617101
HP:0011039	Abnormal helix morphology	2782	GNB1	ORPHA:488613
HP:0011039	Abnormal helix morphology	2782	GNB1	OMIM:616973
HP:0011039	Abnormal helix morphology	5500	PPP1CB	OMIM:617506
HP:0011039	Abnormal helix morphology	7291	TWIST1	OMIM:617746
HP:0011039	Abnormal helix morphology	10982	MAPRE2	OMIM:616734
HP:0011039	Abnormal helix morphology	6299	SALL1	ORPHA:857
HP:0011039	Abnormal helix morphology	55636	CHD7	ORPHA:138
HP:0011039	Abnormal helix morphology	9723	SEMA3E	ORPHA:138
HP:0011039	Abnormal helix morphology	139285	AMER1	OMIM:300373
HP:0011039	Abnormal helix morphology	2535	FZD2	OMIM:164745
HP:0011039	Abnormal helix morphology	55252	ASXL2	OMIM:617190
HP:0011039	Abnormal helix morphology	1376	CPT2	OMIM:608836
HP:0011039	Abnormal helix morphology	4784	NFIX	OMIM:602535
HP:0011039	Abnormal helix morphology	4677	NARS1	OMIM:619092
HP:0011039	Abnormal helix morphology	9487	PIGL	OMIM:280000
HP:0011039	Abnormal helix morphology	727857	BHLHA9	ORPHA:3329
HP:0011039	Abnormal helix morphology	738	VPS51	OMIM:618606
HP:0011039	Abnormal helix morphology	93986	FOXP2	ORPHA:209908
HP:0011039	Abnormal helix morphology	284058	KANSL1	OMIM:610443
HP:0011039	Abnormal helix morphology	1147	CHUK	OMIM:619339
HP:0011039	Abnormal helix morphology	29920	PYCR2	ORPHA:481152
HP:0011039	Abnormal helix morphology	3339	HSPG2	OMIM:255800
HP:0011039	Abnormal helix morphology	3339	HSPG2	ORPHA:800
HP:0011039	Abnormal helix morphology	1312	COMT	ORPHA:567
HP:0011039	Abnormal helix morphology	221037	JMJD1C	ORPHA:567
HP:0011039	Abnormal helix morphology	2812	GP1BB	ORPHA:567
HP:0011039	Abnormal helix morphology	6239	RREB1	ORPHA:567
HP:0011039	Abnormal helix morphology	6899	TBX1	ORPHA:567
HP:0011039	Abnormal helix morphology	7290	HIRA	ORPHA:567
HP:0011039	Abnormal helix morphology	9632	SEC24C	ORPHA:567
HP:0011039	Abnormal helix morphology	7353	UFD1	ORPHA:567
HP:0011039	Abnormal helix morphology	421	ARVCF	ORPHA:567
HP:0011039	Abnormal helix morphology	1387	CREBBP	OMIM:618332
HP:0011039	Abnormal helix morphology	1193	CLIC2	ORPHA:324410
HP:0011039	Abnormal helix morphology	1656	DDX6	OMIM:618653
HP:0011039	Abnormal helix morphology	27161	AGO2	OMIM:619149
HP:0011039	Abnormal helix morphology	8621	CDK13	OMIM:617360
HP:0011039	Abnormal helix morphology	5277	PIGA	OMIM:300868
HP:0011039	Abnormal helix morphology	7043	TGFB3	OMIM:615582
HP:0011039	Abnormal helix morphology	867	CBL	OMIM:613563
HP:0011039	Abnormal helix morphology	55012	PPP2R3C	OMIM:618419
HP:0011039	Abnormal helix morphology	6929	TCF3	OMIM:619824
HP:0011039	Abnormal helix morphology	9343	EFTUD2	OMIM:610536
HP:0011039	Abnormal helix morphology	9343	EFTUD2	ORPHA:79113
HP:0011039	Abnormal helix morphology	158326	FREM1	OMIM:608980
HP:0011039	Abnormal helix morphology	58499	ZNF462	OMIM:618619
HP:0011039	Abnormal helix morphology	9361	LONP1	ORPHA:1458
HP:0011039	Abnormal helix morphology	2263	FGFR2	ORPHA:313855
HP:0011039	Abnormal helix morphology	29998	BICRA	OMIM:619325
HP:0011039	Abnormal helix morphology	2033	EP300	OMIM:613684
HP:0011039	Abnormal helix morphology	1028	CDKN1C	OMIM:130650
HP:0011039	Abnormal helix morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011039	Abnormal helix morphology	3481	IGF2	OMIM:130650
HP:0011039	Abnormal helix morphology	3784	KCNQ1	OMIM:130650
HP:0011039	Abnormal helix morphology	1371	CPOX	ORPHA:79273
HP:0011039	Abnormal helix morphology	9968	MED12	OMIM:309520
HP:0011039	Abnormal helix morphology	2201	FBN2	ORPHA:115
HP:0011039	Abnormal helix morphology	7020	TFAP2A	OMIM:113620
HP:0011039	Abnormal helix morphology	80144	FRAS1	OMIM:219000
HP:0011039	Abnormal helix morphology	9401	RECQL4	OMIM:268400
HP:0011039	Abnormal helix morphology	2335	FN1	ORPHA:93315
HP:0011039	Abnormal helix morphology	1280	COL2A1	ORPHA:93315
HP:0011039	Abnormal helix morphology	79005	SCNM1	OMIM:620107
HP:0011039	Abnormal helix morphology	9772	TMEM94	OMIM:618316
HP:0011039	Abnormal helix morphology	6535	SLC6A8	OMIM:300352
HP:0011039	Abnormal helix morphology	6567	SLC16A2	OMIM:300523
HP:0011039	Abnormal helix morphology	10157	AASS	ORPHA:2203
HP:0011039	Abnormal helix morphology	27086	FOXP1	ORPHA:391372
HP:0011039	Abnormal helix morphology	5053	PAH	ORPHA:2209
HP:0011039	Abnormal helix morphology	2261	FGFR3	ORPHA:794
HP:0011039	Abnormal helix morphology	63932	STEEP1	OMIM:301013
HP:0011039	Abnormal helix morphology	9653	HS2ST1	OMIM:619194
HP:0011039	Abnormal helix morphology	22907	DHX30	OMIM:617804
HP:0011039	Abnormal helix morphology	7468	NSD2	OMIM:619695
HP:0011039	Abnormal helix morphology	1906	EDN1	ORPHA:137888
HP:0011039	Abnormal helix morphology	5332	PLCB4	ORPHA:137888
HP:0011039	Abnormal helix morphology	2773	GNAI3	ORPHA:137888
HP:0011039	Abnormal helix morphology	57178	ZMIZ1	OMIM:618659
HP:0011039	Abnormal helix morphology	4000	LMNA	ORPHA:740
HP:0011039	Abnormal helix morphology	10269	ZMPSTE24	ORPHA:740
HP:0011039	Abnormal helix morphology	2334	AFF2	ORPHA:100973
HP:0011039	Abnormal helix morphology	5831	PYCR1	OMIM:614438
HP:0011039	Abnormal helix morphology	85440	DOCK7	ORPHA:411986
HP:0011039	Abnormal helix morphology	91452	ACBD5	OMIM:618863
HP:0011039	Abnormal helix morphology	25914	RTTN	ORPHA:468631
HP:0011039	Abnormal helix morphology	7025	NR2F1	ORPHA:401777
HP:0011039	Abnormal helix morphology	2239	GPC4	ORPHA:373
HP:0011039	Abnormal helix morphology	2719	GPC3	ORPHA:373
HP:0011039	Abnormal helix morphology	1832	DSP	ORPHA:158687
HP:0011039	Abnormal helix morphology	3728	JUP	ORPHA:158687
HP:0011039	Abnormal helix morphology	5828	PEX2	OMIM:614866
HP:0011039	Abnormal helix morphology	4693	NDP	ORPHA:649
HP:0011039	Abnormal helix morphology	5830	PEX5	OMIM:214110
HP:0011039	Abnormal helix morphology	6925	TCF4	ORPHA:2896
HP:0011039	Abnormal helix morphology	23384	SPECC1L	ORPHA:1519
HP:0011039	Abnormal helix morphology	5605	MAP2K2	ORPHA:638
HP:0011039	Abnormal helix morphology	4763	NF1	ORPHA:638
HP:0011039	Abnormal helix morphology	26040	SETBP1	ORPHA:798
HP:0011039	Abnormal helix morphology	151516	ASPRV1	ORPHA:313
HP:0011039	Abnormal helix morphology	242	ALOX12B	ORPHA:313
HP:0011039	Abnormal helix morphology	126410	CYP4F22	ORPHA:313
HP:0011039	Abnormal helix morphology	6820	SULT2B1	ORPHA:313
HP:0011039	Abnormal helix morphology	26154	ABCA12	ORPHA:313
HP:0011039	Abnormal helix morphology	643418	LIPN	ORPHA:313
HP:0011039	Abnormal helix morphology	59344	ALOXE3	ORPHA:313
HP:0011039	Abnormal helix morphology	348938	NIPAL4	ORPHA:313
HP:0011039	Abnormal helix morphology	121214	SDR9C7	ORPHA:313
HP:0011039	Abnormal helix morphology	7051	TGM1	ORPHA:313
HP:0011039	Abnormal helix morphology	5189	PEX1	OMIM:214100
HP:0011039	Abnormal helix morphology	26123	TCTN3	ORPHA:2753
HP:0011039	Abnormal helix morphology	10220	GDF11	OMIM:619122
HP:0011039	Abnormal helix morphology	8604	SLC25A12	OMIM:612949
HP:0011039	Abnormal helix morphology	4131	MAP1B	OMIM:618918
HP:0011039	Abnormal helix morphology	25836	NIPBL	OMIM:122470
HP:0011039	Abnormal helix morphology	3199	HOXA2	OMIM:612290
HP:0011034	Amyloidosis	114548	NLRP3	ORPHA:575
HP:0011034	Amyloidosis	114548	NLRP3	OMIM:191900
HP:0011034	Amyloidosis	114548	NLRP3	OMIM:120100
HP:0011034	Amyloidosis	4312	MMP1	ORPHA:79408
HP:0011034	Amyloidosis	1294	COL7A1	ORPHA:79408
HP:0011034	Amyloidosis	9056	SLC7A7	ORPHA:470
HP:0011034	Amyloidosis	4069	LYZ	OMIM:105200
HP:0011034	Amyloidosis	2243	FGA	OMIM:105200
HP:0011034	Amyloidosis	335	APOA1	OMIM:105200
HP:0011034	Amyloidosis	9180	OSMR	OMIM:105250
HP:0011034	Amyloidosis	4210	MEFV	OMIM:249100
HP:0011034	Amyloidosis	2859	GPR35	ORPHA:171
HP:0011034	Amyloidosis	10507	SEMA4D	ORPHA:171
HP:0011034	Amyloidosis	4485	MST1	ORPHA:171
HP:0011034	Amyloidosis	6925	TCF4	ORPHA:171
HP:0011034	Amyloidosis	6288	SAA1	ORPHA:85445
HP:0011034	Amyloidosis	171023	ASXL1	ORPHA:98849
HP:0011034	Amyloidosis	54790	TET2	ORPHA:98849
HP:0011034	Amyloidosis	3815	KIT	ORPHA:98849
HP:0011034	Amyloidosis	6427	SRSF2	ORPHA:98849
HP:0011034	Amyloidosis	595	CCND1	OMIM:254500
HP:0011034	Amyloidosis	3981	LIG4	OMIM:254500
HP:0011034	Amyloidosis	348	APOE	OMIM:606889
HP:0011034	Amyloidosis	5664	PSEN2	OMIM:606889
HP:0011034	Amyloidosis	351	APP	OMIM:605714
HP:0011034	Amyloidosis	351	APP	ORPHA:100006
HP:0011034	Amyloidosis	9445	ITM2B	OMIM:176500
HP:0011034	Amyloidosis	9445	ITM2B	OMIM:117300
HP:0011034	Amyloidosis	1471	CST3	ORPHA:100008
HP:0011034	Amyloidosis	5422	POLA1	OMIM:301220
HP:0011034	Amyloidosis	133396	IL31RA	OMIM:613955
HP:0011034	Amyloidosis	7276	TTR	ORPHA:85451
HP:0011034	Amyloidosis	2934	GSN	OMIM:105120
HP:0011034	Amyloidosis	567	B2M	ORPHA:314652
HP:0011034	Amyloidosis	5979	RET	OMIM:171400
HP:0011034	Amyloidosis	22861	NLRP1	OMIM:615225
HP:0011034	Amyloidosis	5621	PRNP	ORPHA:282166
HP:0011034	Amyloidosis	7132	TNFRSF1A	OMIM:142680
HP:0011033	Impairment of fructose metabolism	229	ALDOB	OMIM:229600
HP:0011033	Impairment of fructose metabolism	3795	KHK	ORPHA:2056
HP:0011033	Impairment of fructose metabolism	3795	KHK	OMIM:229800
HP:0011032	Abnormality of fluid regulation	5626	PROP1	ORPHA:226307
HP:0011032	Abnormality of fluid regulation	89884	LHX4	ORPHA:226307
HP:0011032	Abnormality of fluid regulation	8022	LHX3	ORPHA:226307
HP:0011032	Abnormality of fluid regulation	5449	POU1F1	ORPHA:226307
HP:0011032	Abnormality of fluid regulation	8820	HESX1	ORPHA:226307
HP:0011032	Abnormality of fluid regulation	405753	DUOXA2	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	6528	SLC5A5	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	7038	TG	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	7173	TPO	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	389434	IYD	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	50506	DUOX2	ORPHA:95716
HP:0011032	Abnormality of fluid regulation	9401	RECQL4	ORPHA:221016
HP:0011032	Abnormality of fluid regulation	4758	NEU1	OMIM:256550
HP:0011032	Abnormality of fluid regulation	7512	XPNPEP2	ORPHA:100057
HP:0011032	Abnormality of fluid regulation	5340	PLG	OMIM:619360
HP:0011032	Abnormality of fluid regulation	284	ANGPT1	OMIM:619361
HP:0011032	Abnormality of fluid regulation	213	ALB	ORPHA:86816
HP:0011032	Abnormality of fluid regulation	84868	HAVCR2	OMIM:618398
HP:0011032	Abnormality of fluid regulation	26509	MYOF	OMIM:619366
HP:0011032	Abnormality of fluid regulation	64711	HS3ST6	OMIM:619367
HP:0011032	Abnormality of fluid regulation	3827	KNG1	OMIM:619363
HP:0011032	Abnormality of fluid regulation	710	SERPING1	ORPHA:100050
HP:0011032	Abnormality of fluid regulation	7252	TSHB	ORPHA:90674
HP:0011032	Abnormality of fluid regulation	2161	F12	OMIM:610618
HP:0011032	Abnormality of fluid regulation	64682	ANAPC1	ORPHA:221008
HP:0011032	Abnormality of fluid regulation	291	SLC25A4	ORPHA:254892
HP:0011032	Abnormality of fluid regulation	56652	TWNK	ORPHA:254892
HP:0011032	Abnormality of fluid regulation	11232	POLG2	ORPHA:254892
HP:0011032	Abnormality of fluid regulation	50484	RRM2B	ORPHA:254892
HP:0011032	Abnormality of fluid regulation	2235	FECH	OMIM:177000
HP:0011032	Abnormality of fluid regulation	2235	FECH	ORPHA:79278
HP:0011032	Abnormality of fluid regulation	5076	PAX2	ORPHA:97362
HP:0011032	Abnormality of fluid regulation	5076	PAX2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	5076	PAX2	OMIM:120330
HP:0011032	Abnormality of fluid regulation	5087	PBX1	ORPHA:97362
HP:0011032	Abnormality of fluid regulation	657	BMPR1A	ORPHA:329971
HP:0011032	Abnormality of fluid regulation	4089	SMAD4	ORPHA:329971
HP:0011032	Abnormality of fluid regulation	2022	ENG	ORPHA:329971
HP:0011032	Abnormality of fluid regulation	57122	NUP107	OMIM:618348
HP:0011032	Abnormality of fluid regulation	57122	NUP107	ORPHA:656
HP:0011032	Abnormality of fluid regulation	79650	USB1	OMIM:604173
HP:0011032	Abnormality of fluid regulation	56945	MRPS22	OMIM:611719
HP:0011032	Abnormality of fluid regulation	2073	ERCC5	OMIM:616570
HP:0011032	Abnormality of fluid regulation	396	ARHGDIA	OMIM:615244
HP:0011032	Abnormality of fluid regulation	396	ARHGDIA	ORPHA:656
HP:0011032	Abnormality of fluid regulation	7253	TSHR	ORPHA:90673
HP:0011032	Abnormality of fluid regulation	4868	NPHS1	OMIM:256300
HP:0011032	Abnormality of fluid regulation	4868	NPHS1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	2733	GLE1	OMIM:253310
HP:0011032	Abnormality of fluid regulation	23607	CD2AP	ORPHA:656
HP:0011032	Abnormality of fluid regulation	9688	NUP93	ORPHA:656
HP:0011032	Abnormality of fluid regulation	4643	MYO1E	ORPHA:656
HP:0011032	Abnormality of fluid regulation	4643	MYO1E	OMIM:614131
HP:0011032	Abnormality of fluid regulation	64423	INF2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	26130	GAPVD1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	7490	WT1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	51479	ANKFY1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	54443	ANLN	ORPHA:656
HP:0011032	Abnormality of fluid regulation	5800	PTPRO	ORPHA:656
HP:0011032	Abnormality of fluid regulation	5800	PTPRO	OMIM:614196
HP:0011032	Abnormality of fluid regulation	286204	CRB2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	23165	NUP205	ORPHA:656
HP:0011032	Abnormality of fluid regulation	2013	EMP2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	79023	NUP37	ORPHA:656
HP:0011032	Abnormality of fluid regulation	51196	PLCE1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	51196	PLCE1	OMIM:610725
HP:0011032	Abnormality of fluid regulation	79902	NUP85	ORPHA:656
HP:0011032	Abnormality of fluid regulation	1285	COL4A3	ORPHA:656
HP:0011032	Abnormality of fluid regulation	79934	COQ8B	ORPHA:656
HP:0011032	Abnormality of fluid regulation	79934	COQ8B	OMIM:615573
HP:0011032	Abnormality of fluid regulation	23279	NUP160	ORPHA:656
HP:0011032	Abnormality of fluid regulation	9863	MAGI2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	7225	TRPC6	ORPHA:656
HP:0011032	Abnormality of fluid regulation	8542	APOL1	ORPHA:656
HP:0011032	Abnormality of fluid regulation	54885	TBC1D8B	ORPHA:656
HP:0011032	Abnormality of fluid regulation	7827	NPHS2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	7827	NPHS2	OMIM:600995
HP:0011032	Abnormality of fluid regulation	83478	ARHGAP24	ORPHA:656
HP:0011032	Abnormality of fluid regulation	23500	DAAM2	ORPHA:656
HP:0011032	Abnormality of fluid regulation	55746	NUP133	ORPHA:656
HP:0011032	Abnormality of fluid regulation	3849	KRT2	ORPHA:455
HP:0011032	Abnormality of fluid regulation	182	JAG1	OMIM:619574
HP:0011032	Abnormality of fluid regulation	3913	LAMB2	OMIM:609049
HP:0011032	Abnormality of fluid regulation	79087	ALG12	OMIM:607143
HP:0011032	Abnormality of fluid regulation	79087	ALG12	ORPHA:79324
HP:0011032	Abnormality of fluid regulation	56984	PSMG2	OMIM:619183
HP:0011032	Abnormality of fluid regulation	3860	KRT13	OMIM:615785
HP:0011032	Abnormality of fluid regulation	4598	MVK	OMIM:610377
HP:0011032	Abnormality of fluid regulation	51021	MRPS16	OMIM:610498
HP:0011032	Abnormality of fluid regulation	55644	OSGEP	OMIM:617729
HP:0011032	Abnormality of fluid regulation	4069	LYZ	OMIM:105200
HP:0011032	Abnormality of fluid regulation	335	APOA1	OMIM:105200
HP:0011032	Abnormality of fluid regulation	567	B2M	OMIM:105200
HP:0011032	Abnormality of fluid regulation	129563	DIS3L2	OMIM:267000
HP:0011032	Abnormality of fluid regulation	8879	SGPL1	OMIM:617575
HP:0011032	Abnormality of fluid regulation	51002	TPRKB	OMIM:617731
HP:0011032	Abnormality of fluid regulation	6023	RMRP	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	55636	CHD7	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	3981	LIG4	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	5896	RAG1	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	5897	RAG2	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	64421	DCLRE1C	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	100	ADA	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	3575	IL7R	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	3561	IL2RG	ORPHA:39041
HP:0011032	Abnormality of fluid regulation	2776	GNAQ	ORPHA:624
HP:0011032	Abnormality of fluid regulation	5551	PRF1	OMIM:603553
HP:0011032	Abnormality of fluid regulation	8676	STX11	OMIM:603552
HP:0011032	Abnormality of fluid regulation	100147744	RNU7-1	OMIM:619487
HP:0011032	Abnormality of fluid regulation	55704	CCDC88A	OMIM:617507
HP:0011032	Abnormality of fluid regulation	2683	B4GALT1	ORPHA:79332
HP:0011032	Abnormality of fluid regulation	2065	ERBB3	OMIM:607598
HP:0011032	Abnormality of fluid regulation	4846	NOS3	OMIM:189800
HP:0011032	Abnormality of fluid regulation	4351	MPI	ORPHA:79319
HP:0011032	Abnormality of fluid regulation	4351	MPI	OMIM:602579
HP:0011032	Abnormality of fluid regulation	1493	CTLA4	ORPHA:3162
HP:0011032	Abnormality of fluid regulation	1493	CTLA4	ORPHA:2584
HP:0011032	Abnormality of fluid regulation	940	CD28	ORPHA:3162
HP:0011032	Abnormality of fluid regulation	940	CD28	ORPHA:2584
HP:0011032	Abnormality of fluid regulation	7133	TNFRSF1B	ORPHA:3162
HP:0011032	Abnormality of fluid regulation	7133	TNFRSF1B	ORPHA:2584
HP:0011032	Abnormality of fluid regulation	348	APOE	ORPHA:158029
HP:0011032	Abnormality of fluid regulation	79989	IFT56	OMIM:619534
HP:0011032	Abnormality of fluid regulation	6521	SLC4A1	ORPHA:3202
HP:0011032	Abnormality of fluid regulation	3783	KCNN4	ORPHA:3202
HP:0011032	Abnormality of fluid regulation	10682	EBP	OMIM:302960
HP:0011032	Abnormality of fluid regulation	1832	DSP	OMIM:605676
HP:0011032	Abnormality of fluid regulation	1604	CD55	OMIM:226300
HP:0011032	Abnormality of fluid regulation	9742	IFT140	OMIM:266920
HP:0011032	Abnormality of fluid regulation	29968	PSAT1	OMIM:616038
HP:0011032	Abnormality of fluid regulation	57107	PDSS2	OMIM:614652
HP:0011032	Abnormality of fluid regulation	203068	TUBB	ORPHA:2505
HP:0011032	Abnormality of fluid regulation	10982	MAPRE2	ORPHA:2505
HP:0011032	Abnormality of fluid regulation	1144	CHRND	OMIM:253290
HP:0011032	Abnormality of fluid regulation	1134	CHRNA1	OMIM:253290
HP:0011032	Abnormality of fluid regulation	6935	ZEB1	ORPHA:98974
HP:0011032	Abnormality of fluid regulation	123624	AGBL1	ORPHA:98974
HP:0011032	Abnormality of fluid regulation	83959	SLC4A11	ORPHA:98974
HP:0011032	Abnormality of fluid regulation	1296	COL8A2	ORPHA:98974
HP:0011032	Abnormality of fluid regulation	64132	XYLT2	OMIM:605822
HP:0011032	Abnormality of fluid regulation	998	CDC42	ORPHA:487796
HP:0011032	Abnormality of fluid regulation	998	CDC42	OMIM:616737
HP:0011032	Abnormality of fluid regulation	5784	PTPN14	OMIM:613611
HP:0011032	Abnormality of fluid regulation	118429	ANTXR2	ORPHA:2176
HP:0011032	Abnormality of fluid regulation	5728	PTEN	ORPHA:109
HP:0011032	Abnormality of fluid regulation	5728	PTEN	ORPHA:744
HP:0011032	Abnormality of fluid regulation	3636	INPPL1	ORPHA:3144
HP:0011032	Abnormality of fluid regulation	85358	SHANK3	OMIM:606232
HP:0011032	Abnormality of fluid regulation	85358	SHANK3	ORPHA:48652
HP:0011032	Abnormality of fluid regulation	5649	RELN	OMIM:257320
HP:0011032	Abnormality of fluid regulation	2624	GATA2	ORPHA:3226
HP:0011032	Abnormality of fluid regulation	2624	GATA2	OMIM:614038
HP:0011032	Abnormality of fluid regulation	207	AKT1	ORPHA:744
HP:0011032	Abnormality of fluid regulation	10060	ABCC9	OMIM:239850
HP:0011032	Abnormality of fluid regulation	285	ANGPT2	OMIM:619369
HP:0011032	Abnormality of fluid regulation	5594	MAPK1	OMIM:619087
HP:0011032	Abnormality of fluid regulation	8642	DCHS1	ORPHA:314679
HP:0011032	Abnormality of fluid regulation	7248	TSC1	ORPHA:538
HP:0011032	Abnormality of fluid regulation	7249	TSC2	ORPHA:538
HP:0011032	Abnormality of fluid regulation	4693	NDP	ORPHA:891
HP:0011032	Abnormality of fluid regulation	1499	CTNNB1	ORPHA:891
HP:0011032	Abnormality of fluid regulation	23554	TSPAN12	ORPHA:891
HP:0011032	Abnormality of fluid regulation	4041	LRP5	ORPHA:891
HP:0011032	Abnormality of fluid regulation	79797	ZNF408	ORPHA:891
HP:0011032	Abnormality of fluid regulation	8322	FZD4	ORPHA:891
HP:0011032	Abnormality of fluid regulation	2717	GLA	OMIM:301500
HP:0011032	Abnormality of fluid regulation	2717	GLA	ORPHA:324
HP:0011032	Abnormality of fluid regulation	1020	CDK5	OMIM:616342
HP:0011032	Abnormality of fluid regulation	8260	NAA10	OMIM:300855
HP:0011032	Abnormality of fluid regulation	4668	NAGA	ORPHA:79280
HP:0011032	Abnormality of fluid regulation	4668	NAGA	OMIM:609242
HP:0011032	Abnormality of fluid regulation	4668	NAGA	ORPHA:79279
HP:0011032	Abnormality of fluid regulation	5604	MAP2K1	ORPHA:1340
HP:0011032	Abnormality of fluid regulation	5604	MAP2K1	OMIM:163950
HP:0011032	Abnormality of fluid regulation	5605	MAP2K2	ORPHA:1340
HP:0011032	Abnormality of fluid regulation	3845	KRAS	ORPHA:1340
HP:0011032	Abnormality of fluid regulation	3845	KRAS	ORPHA:648
HP:0011032	Abnormality of fluid regulation	3845	KRAS	OMIM:600268
HP:0011032	Abnormality of fluid regulation	22800	RRAS2	ORPHA:648
HP:0011032	Abnormality of fluid regulation	867	CBL	ORPHA:648
HP:0011032	Abnormality of fluid regulation	867	CBL	OMIM:613563
HP:0011032	Abnormality of fluid regulation	6237	RRAS	ORPHA:648
HP:0011032	Abnormality of fluid regulation	5894	RAF1	ORPHA:648
HP:0011032	Abnormality of fluid regulation	22808	MRAS	ORPHA:648
HP:0011032	Abnormality of fluid regulation	200734	SPRED2	ORPHA:648
HP:0011032	Abnormality of fluid regulation	4893	NRAS	ORPHA:648
HP:0011032	Abnormality of fluid regulation	6654	SOS1	ORPHA:648
HP:0011032	Abnormality of fluid regulation	6655	SOS2	ORPHA:648
HP:0011032	Abnormality of fluid regulation	5781	PTPN11	ORPHA:648
HP:0011032	Abnormality of fluid regulation	5781	PTPN11	OMIM:163950
HP:0011032	Abnormality of fluid regulation	5922	RASA2	ORPHA:648
HP:0011032	Abnormality of fluid regulation	23592	LEMD3	ORPHA:1306
HP:0011032	Abnormality of fluid regulation	8517	IKBKG	OMIM:300291
HP:0011032	Abnormality of fluid regulation	3265	HRAS	ORPHA:2874
HP:0011032	Abnormality of fluid regulation	5290	PIK3CA	OMIM:613089
HP:0011032	Abnormality of fluid regulation	80208	SPG11	ORPHA:2822
HP:0011032	Abnormality of fluid regulation	374654	KIF7	OMIM:607131
HP:0011032	Abnormality of fluid regulation	9663	LPIN2	OMIM:609628
HP:0011032	Abnormality of fluid regulation	6399	TRAPPC2	ORPHA:93284
HP:0011032	Abnormality of fluid regulation	90268	OTULIN	OMIM:617099
HP:0011032	Abnormality of fluid regulation	30061	SLC40A1	ORPHA:139491
HP:0011032	Abnormality of fluid regulation	8838	CCN6	OMIM:208230
HP:0011032	Abnormality of fluid regulation	8838	CCN6	ORPHA:1159
HP:0011032	Abnormality of fluid regulation	3248	HPGD	ORPHA:1525
HP:0011032	Abnormality of fluid regulation	3248	HPGD	ORPHA:2796
HP:0011032	Abnormality of fluid regulation	5925	RB1	ORPHA:668
HP:0011032	Abnormality of fluid regulation	11200	CHEK2	ORPHA:668
HP:0011032	Abnormality of fluid regulation	2243	FGA	ORPHA:98880
HP:0011032	Abnormality of fluid regulation	2244	FGB	ORPHA:98880
HP:0011032	Abnormality of fluid regulation	2266	FGG	ORPHA:98880
HP:0011032	Abnormality of fluid regulation	3560	IL2RB	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	79722	ANKRD55	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	26191	PTPN22	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	26191	PTPN22	OMIM:180300
HP:0011032	Abnormality of fluid regulation	919	CD247	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	3559	IL2RA	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	5771	PTPN2	ORPHA:85408
HP:0011032	Abnormality of fluid regulation	7132	TNFRSF1A	ORPHA:329967
HP:0011032	Abnormality of fluid regulation	3557	IL1RN	OMIM:612852
HP:0011032	Abnormality of fluid regulation	54	ACP5	OMIM:607944
HP:0011032	Abnormality of fluid regulation	2157	F8	ORPHA:169805
HP:0011032	Abnormality of fluid regulation	2157	F8	ORPHA:169802
HP:0011032	Abnormality of fluid regulation	654	BMP6	ORPHA:465508
HP:0011032	Abnormality of fluid regulation	6583	SLC22A4	OMIM:180300
HP:0011032	Abnormality of fluid regulation	4261	CIITA	OMIM:180300
HP:0011032	Abnormality of fluid regulation	51744	CD244	OMIM:180300
HP:0011032	Abnormality of fluid regulation	4795	NFKBIL1	OMIM:180300
HP:0011032	Abnormality of fluid regulation	64127	NOD2	ORPHA:90340
HP:0011032	Abnormality of fluid regulation	64127	NOD2	OMIM:186580
HP:0011032	Abnormality of fluid regulation	83550	GPR101	ORPHA:963
HP:0011032	Abnormality of fluid regulation	9049	AIP	ORPHA:963
HP:0011032	Abnormality of fluid regulation	6578	SLCO2A1	ORPHA:2796
HP:0011032	Abnormality of fluid regulation	3081	HGD	ORPHA:56
HP:0011032	Abnormality of fluid regulation	6850	SYK	OMIM:619381
HP:0011032	Abnormality of fluid regulation	4921	DDR2	OMIM:618175
HP:0011032	Abnormality of fluid regulation	2783	GNB2	OMIM:619503
HP:0011032	Abnormality of fluid regulation	4982	TNFRSF11B	ORPHA:1416
HP:0011032	Abnormality of fluid regulation	56172	ANKH	ORPHA:1416
HP:0011032	Abnormality of fluid regulation	5337	PLD1	OMIM:212093
HP:0011032	Abnormality of fluid regulation	356	FASLG	ORPHA:3261
HP:0011032	Abnormality of fluid regulation	5580	PRKCD	ORPHA:3261
HP:0011032	Abnormality of fluid regulation	843	CASP10	ORPHA:3261
HP:0011032	Abnormality of fluid regulation	10125	RASGRP1	ORPHA:3261
HP:0011032	Abnormality of fluid regulation	1836	SLC26A2	OMIM:600972
HP:0011032	Abnormality of fluid regulation	1836	SLC26A2	ORPHA:93298
HP:0011032	Abnormality of fluid regulation	5167	ENPP1	ORPHA:51608
HP:0011032	Abnormality of fluid regulation	368	ABCC6	ORPHA:51608
HP:0011032	Abnormality of fluid regulation	4750	NEK1	OMIM:263520
HP:0011032	Abnormality of fluid regulation	2632	GBE1	OMIM:232500
HP:0011032	Abnormality of fluid regulation	9508	ADAMTS3	ORPHA:2136
HP:0011032	Abnormality of fluid regulation	79633	FAT4	ORPHA:2136
HP:0011032	Abnormality of fluid regulation	57539	WDR35	OMIM:613610
HP:0011032	Abnormality of fluid regulation	57539	WDR35	ORPHA:93271
HP:0011032	Abnormality of fluid regulation	57539	WDR35	OMIM:614091
HP:0011032	Abnormality of fluid regulation	5745	PTH1R	OMIM:215045
HP:0011032	Abnormality of fluid regulation	5745	PTH1R	ORPHA:50945
HP:0011032	Abnormality of fluid regulation	2990	GUSB	ORPHA:584
HP:0011032	Abnormality of fluid regulation	2990	GUSB	OMIM:253220
HP:0011032	Abnormality of fluid regulation	79796	ALG9	ORPHA:79328
HP:0011032	Abnormality of fluid regulation	4247	MGAT2	ORPHA:79329
HP:0011032	Abnormality of fluid regulation	6888	TALDO1	ORPHA:101028
HP:0011032	Abnormality of fluid regulation	55112	DYNC2I1	ORPHA:93271
HP:0011032	Abnormality of fluid regulation	57560	IFT80	ORPHA:93271
HP:0011032	Abnormality of fluid regulation	79659	DYNC2H1	ORPHA:93271
HP:0011032	Abnormality of fluid regulation	89891	DYNC2I2	ORPHA:93271
HP:0011032	Abnormality of fluid regulation	91754	NEK9	OMIM:617022
HP:0011032	Abnormality of fluid regulation	3030	HADHA	OMIM:609015
HP:0011032	Abnormality of fluid regulation	2122	MECOM	OMIM:616738
HP:0011032	Abnormality of fluid regulation	2720	GLB1	ORPHA:79255
HP:0011032	Abnormality of fluid regulation	2720	GLB1	OMIM:230500
HP:0011032	Abnormality of fluid regulation	1146	CHRNG	OMIM:265000
HP:0011032	Abnormality of fluid regulation	427	ASAH1	ORPHA:333
HP:0011032	Abnormality of fluid regulation	9321	TRIP11	OMIM:200600
HP:0011032	Abnormality of fluid regulation	9321	TRIP11	ORPHA:93299
HP:0011032	Abnormality of fluid regulation	26503	SLC17A5	OMIM:269920
HP:0011032	Abnormality of fluid regulation	9786	KIAA0586	OMIM:616546
HP:0011032	Abnormality of fluid regulation	10661	KLF1	OMIM:613673
HP:0011032	Abnormality of fluid regulation	6261	RYR1	OMIM:255320
HP:0011032	Abnormality of fluid regulation	7476	WNT7A	ORPHA:2879
HP:0011032	Abnormality of fluid regulation	2317	FLNB	ORPHA:1263
HP:0011032	Abnormality of fluid regulation	55109	AGGF1	ORPHA:90308
HP:0011032	Abnormality of fluid regulation	3339	HSPG2	ORPHA:1865
HP:0011032	Abnormality of fluid regulation	79053	ALG8	ORPHA:79325
HP:0011032	Abnormality of fluid regulation	2035	EPB41	ORPHA:288
HP:0011032	Abnormality of fluid regulation	2995	GYPC	ORPHA:288
HP:0011032	Abnormality of fluid regulation	6710	SPTB	ORPHA:288
HP:0011032	Abnormality of fluid regulation	6708	SPTA1	ORPHA:288
HP:0011032	Abnormality of fluid regulation	9896	FIG4	OMIM:216340
HP:0011032	Abnormality of fluid regulation	9896	FIG4	ORPHA:3472
HP:0011032	Abnormality of fluid regulation	191	AHCY	ORPHA:88618
HP:0011032	Abnormality of fluid regulation	55697	VAC14	ORPHA:3472
HP:0011032	Abnormality of fluid regulation	1301	COL11A1	OMIM:228520
HP:0011032	Abnormality of fluid regulation	4905	NSF	OMIM:619340
HP:0011032	Abnormality of fluid regulation	5277	PIGA	OMIM:300868
HP:0011032	Abnormality of fluid regulation	6007	RHD	OMIM:619462
HP:0011032	Abnormality of fluid regulation	146059	CDAN1	OMIM:224120
HP:0011032	Abnormality of fluid regulation	4591	TRIM37	OMIM:253250
HP:0011032	Abnormality of fluid regulation	3039	HBA1	ORPHA:163596
HP:0011032	Abnormality of fluid regulation	3040	HBA2	ORPHA:163596
HP:0011032	Abnormality of fluid regulation	3930	LBR	OMIM:215140
HP:0011032	Abnormality of fluid regulation	55388	MCM10	OMIM:619313
HP:0011032	Abnormality of fluid regulation	4593	MUSK	OMIM:208150
HP:0011032	Abnormality of fluid regulation	5530	PPP3CA	OMIM:618265
HP:0011032	Abnormality of fluid regulation	1278	COL1A2	OMIM:166210
HP:0011032	Abnormality of fluid regulation	55901	THSD1	OMIM:620244
HP:0011032	Abnormality of fluid regulation	54675	CRLS1	OMIM:620167
HP:0011032	Abnormality of fluid regulation	2629	GBA1	OMIM:608013
HP:0011032	Abnormality of fluid regulation	7389	UROD	ORPHA:95159
HP:0011032	Abnormality of fluid regulation	6331	SCN5A	OMIM:603830
HP:0011032	Abnormality of fluid regulation	5313	PKLR	OMIM:266200
HP:0011032	Abnormality of fluid regulation	6135	RPL11	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6138	RPL15	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6229	RPS24	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6125	RPL5	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6204	RPS10	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6224	RPS20	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6165	RPL35A	ORPHA:124
HP:0011032	Abnormality of fluid regulation	2623	GATA1	ORPHA:124
HP:0011032	Abnormality of fluid regulation	2623	GATA1	ORPHA:79277
HP:0011032	Abnormality of fluid regulation	6223	RPS19	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6232	RPS27	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6231	RPS26	ORPHA:124
HP:0011032	Abnormality of fluid regulation	11224	RPL35	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6160	RPL31	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6218	RPS17	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6201	RPS7	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6155	RPL27	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6154	RPL26	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6210	RPS15A	ORPHA:124
HP:0011032	Abnormality of fluid regulation	90121	TSR2	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6141	RPL18	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6235	RPS29	ORPHA:124
HP:0011032	Abnormality of fluid regulation	6234	RPS28	ORPHA:124
HP:0011032	Abnormality of fluid regulation	51816	ADA2	ORPHA:124
HP:0011032	Abnormality of fluid regulation	57538	ALPK3	OMIM:618052
HP:0011032	Abnormality of fluid regulation	4716	NDUFB10	OMIM:619003
HP:0011032	Abnormality of fluid regulation	23395	LARS2	OMIM:617021
HP:0011032	Abnormality of fluid regulation	79587	CARS2	ORPHA:477774
HP:0011032	Abnormality of fluid regulation	55278	QRSL1	OMIM:618835
HP:0011032	Abnormality of fluid regulation	23426	GRIP1	OMIM:617667
HP:0011032	Abnormality of fluid regulation	5188	GATB	OMIM:618838
HP:0011032	Abnormality of fluid regulation	5921	RASA1	ORPHA:137667
HP:0011032	Abnormality of fluid regulation	29969	MDFIC	OMIM:620014
HP:0011032	Abnormality of fluid regulation	23169	SLC35D1	OMIM:269250
HP:0011032	Abnormality of fluid regulation	7390	UROS	ORPHA:79277
HP:0011032	Abnormality of fluid regulation	283459	GATC	OMIM:618839
HP:0011032	Abnormality of fluid regulation	56052	ALG1	OMIM:608540
HP:0011032	Abnormality of fluid regulation	5476	CTSA	OMIM:256540
HP:0011032	Abnormality of fluid regulation	5373	PMM2	OMIM:212065
HP:0011032	Abnormality of fluid regulation	1497	CTNS	OMIM:219800
HP:0011032	Abnormality of fluid regulation	1497	CTNS	ORPHA:411629
HP:0011032	Abnormality of fluid regulation	1497	CTNS	ORPHA:411634
HP:0011032	Abnormality of fluid regulation	3155	HMGCL	ORPHA:20
HP:0011032	Abnormality of fluid regulation	197322	ACSF3	OMIM:614265
HP:0011032	Abnormality of fluid regulation	197322	ACSF3	ORPHA:289504
HP:0011032	Abnormality of fluid regulation	6809	STX3	ORPHA:2290
HP:0011032	Abnormality of fluid regulation	4645	MYO5B	ORPHA:2290
HP:0011032	Abnormality of fluid regulation	4645	MYO5B	OMIM:251850
HP:0011032	Abnormality of fluid regulation	79827	CLMP	OMIM:615237
HP:0011032	Abnormality of fluid regulation	3909	LAMA3	ORPHA:79404
HP:0011032	Abnormality of fluid regulation	3918	LAMC2	ORPHA:79404
HP:0011032	Abnormality of fluid regulation	3914	LAMB3	ORPHA:79404
HP:0011032	Abnormality of fluid regulation	50674	NEUROG3	ORPHA:83620
HP:0011032	Abnormality of fluid regulation	50674	NEUROG3	OMIM:610370
HP:0011032	Abnormality of fluid regulation	6523	SLC5A1	ORPHA:35710
HP:0011032	Abnormality of fluid regulation	3767	KCNJ11	ORPHA:79134
HP:0011032	Abnormality of fluid regulation	3767	KCNJ11	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	3767	KCNJ11	ORPHA:99886
HP:0011032	Abnormality of fluid regulation	79731	NARS2	ORPHA:79134
HP:0011032	Abnormality of fluid regulation	6833	ABCC8	ORPHA:79134
HP:0011032	Abnormality of fluid regulation	6833	ABCC8	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	6833	ABCC8	ORPHA:99886
HP:0011032	Abnormality of fluid regulation	3284	HSD3B2	ORPHA:90791
HP:0011032	Abnormality of fluid regulation	4952	OCRL	ORPHA:534
HP:0011032	Abnormality of fluid regulation	6774	STAT3	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	2645	GCK	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	3651	PDX1	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	3630	INS	ORPHA:99885
HP:0011032	Abnormality of fluid regulation	346171	ZFP57	ORPHA:99886
HP:0011032	Abnormality of fluid regulation	346171	ZFP57	OMIM:601410
HP:0011032	Abnormality of fluid regulation	57061	HYMAI	ORPHA:99886
HP:0011032	Abnormality of fluid regulation	57061	HYMAI	ORPHA:96191
HP:0011032	Abnormality of fluid regulation	57061	HYMAI	OMIM:601410
HP:0011032	Abnormality of fluid regulation	5325	PLAGL1	ORPHA:99886
HP:0011032	Abnormality of fluid regulation	5325	PLAGL1	ORPHA:96191
HP:0011032	Abnormality of fluid regulation	4072	EPCAM	ORPHA:92050
HP:0011032	Abnormality of fluid regulation	105371045	PERCC1	ORPHA:92050
HP:0011032	Abnormality of fluid regulation	2212	FCGR2A	OMIM:219700
HP:0011032	Abnormality of fluid regulation	7040	TGFB1	OMIM:219700
HP:0011032	Abnormality of fluid regulation	3938	LCT	OMIM:223000
HP:0011032	Abnormality of fluid regulation	114548	NLRP3	ORPHA:47045
HP:0011032	Abnormality of fluid regulation	1956	EGFR	OMIM:616069
HP:0011032	Abnormality of fluid regulation	1585	CYP11B2	OMIM:203400
HP:0011032	Abnormality of fluid regulation	1585	CYP11B2	OMIM:610600
HP:0011032	Abnormality of fluid regulation	1585	CYP11B2	ORPHA:556030
HP:0011032	Abnormality of fluid regulation	4594	MMUT	OMIM:251000
HP:0011032	Abnormality of fluid regulation	4594	MMUT	ORPHA:79312
HP:0011032	Abnormality of fluid regulation	84693	MCEE	OMIM:251120
HP:0011032	Abnormality of fluid regulation	5095	PCCA	OMIM:606054
HP:0011032	Abnormality of fluid regulation	5096	PCCB	OMIM:606054
HP:0011032	Abnormality of fluid regulation	3712	IVD	OMIM:243500
HP:0011032	Abnormality of fluid regulation	1583	CYP11A1	ORPHA:289548
HP:0011032	Abnormality of fluid regulation	1583	CYP11A1	ORPHA:168558
HP:0011032	Abnormality of fluid regulation	6557	SLC12A1	OMIM:601678
HP:0011032	Abnormality of fluid regulation	26276	VPS33B	OMIM:208085
HP:0011032	Abnormality of fluid regulation	3758	KCNJ1	OMIM:241200
HP:0011032	Abnormality of fluid regulation	1591	CYP24A1	OMIM:143880
HP:0011032	Abnormality of fluid regulation	38	ACAT1	OMIM:203750
HP:0011032	Abnormality of fluid regulation	38	ACAT1	ORPHA:134
HP:0011032	Abnormality of fluid regulation	326625	MMAB	OMIM:251110
HP:0011032	Abnormality of fluid regulation	151516	ASPRV1	ORPHA:313
HP:0011032	Abnormality of fluid regulation	242	ALOX12B	ORPHA:313
HP:0011032	Abnormality of fluid regulation	126410	CYP4F22	ORPHA:313
HP:0011032	Abnormality of fluid regulation	6820	SULT2B1	ORPHA:313
HP:0011032	Abnormality of fluid regulation	26154	ABCA12	ORPHA:313
HP:0011032	Abnormality of fluid regulation	26154	ABCA12	ORPHA:457
HP:0011032	Abnormality of fluid regulation	643418	LIPN	ORPHA:313
HP:0011032	Abnormality of fluid regulation	59344	ALOXE3	ORPHA:313
HP:0011032	Abnormality of fluid regulation	348938	NIPAL4	ORPHA:313
HP:0011032	Abnormality of fluid regulation	121214	SDR9C7	ORPHA:313
HP:0011032	Abnormality of fluid regulation	2074	ERCC6	OMIM:214150
HP:0011032	Abnormality of fluid regulation	7809	BSND	ORPHA:89938
HP:0011032	Abnormality of fluid regulation	1188	CLCNKB	ORPHA:89938
HP:0011032	Abnormality of fluid regulation	1188	CLCNKB	OMIM:607364
HP:0011032	Abnormality of fluid regulation	1187	CLCNKA	ORPHA:89938
HP:0011032	Abnormality of fluid regulation	1621	DBH	ORPHA:230
HP:0011032	Abnormality of fluid regulation	5314	PKHD1	OMIM:263200
HP:0011032	Abnormality of fluid regulation	189	AGXT	OMIM:259900
HP:0011032	Abnormality of fluid regulation	6507	SLC1A3	ORPHA:2131
HP:0011032	Abnormality of fluid regulation	478	ATP1A3	ORPHA:2131
HP:0011032	Abnormality of fluid regulation	166785	MMAA	OMIM:251100
HP:0011032	Abnormality of fluid regulation	190	NR0B1	OMIM:300200
HP:0011032	Abnormality of fluid regulation	6340	SCNN1G	ORPHA:171876
HP:0011032	Abnormality of fluid regulation	6340	SCNN1G	OMIM:620126
HP:0011032	Abnormality of fluid regulation	6337	SCNN1A	ORPHA:171876
HP:0011032	Abnormality of fluid regulation	6337	SCNN1A	OMIM:264350
HP:0011032	Abnormality of fluid regulation	6338	SCNN1B	ORPHA:171876
HP:0011032	Abnormality of fluid regulation	6338	SCNN1B	OMIM:620125
HP:0011032	Abnormality of fluid regulation	4306	NR3C2	OMIM:177735
HP:0011032	Abnormality of fluid regulation	28957	MRPS28	OMIM:618958
HP:0011032	Abnormality of fluid regulation	1811	SLC26A3	OMIM:214700
HP:0011032	Abnormality of fluid regulation	1962	EHHADH	ORPHA:3337
HP:0011032	Abnormality of fluid regulation	2628	GATM	ORPHA:3337
HP:0011032	Abnormality of fluid regulation	137682	NDUFAF6	ORPHA:3337
HP:0011032	Abnormality of fluid regulation	6569	SLC34A1	ORPHA:3337
HP:0011032	Abnormality of fluid regulation	4221	MEN1	ORPHA:652
HP:0011032	Abnormality of fluid regulation	1027	CDKN1B	ORPHA:652
HP:0011032	Abnormality of fluid regulation	1026	CDKN1A	ORPHA:652
HP:0011032	Abnormality of fluid regulation	1030	CDKN2B	ORPHA:652
HP:0011032	Abnormality of fluid regulation	1031	CDKN2C	ORPHA:652
HP:0011032	Abnormality of fluid regulation	6524	SLC5A2	ORPHA:69076
HP:0011032	Abnormality of fluid regulation	55898	UNC45A	OMIM:619377
HP:0011032	Abnormality of fluid regulation	1537	CYC1	OMIM:615453
HP:0011032	Abnormality of fluid regulation	25974	MMACHC	ORPHA:79282
HP:0011032	Abnormality of fluid regulation	9451	EIF2AK3	ORPHA:1667
HP:0011032	Abnormality of fluid regulation	50617	ATP6V0A4	OMIM:602722
HP:0011032	Abnormality of fluid regulation	81570	CLPB	OMIM:616271
HP:0011032	Abnormality of fluid regulation	204	AK2	ORPHA:33355
HP:0011032	Abnormality of fluid regulation	27034	ACAD8	ORPHA:79159
HP:0011032	Abnormality of fluid regulation	6929	TCF3	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	973	CD79A	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	974	CD79B	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	3543	IGLL1	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	3507	IGHM	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	29760	BLNK	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	5295	PIK3R1	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	56262	LRRC8A	ORPHA:33110
HP:0011032	Abnormality of fluid regulation	6584	SLC22A5	OMIM:212140
HP:0011032	Abnormality of fluid regulation	359	AQP2	OMIM:125800
HP:0011032	Abnormality of fluid regulation	554	AVPR2	OMIM:304800
HP:0011032	Abnormality of fluid regulation	6611	SMS	ORPHA:3063
HP:0011032	Abnormality of fluid regulation	55739	NAXD	OMIM:618321
HP:0011032	Abnormality of fluid regulation	51241	COX16	OMIM:619355
HP:0011032	Abnormality of fluid regulation	11019	LIAS	OMIM:614462
HP:0011032	Abnormality of fluid regulation	34	ACADM	OMIM:201450
HP:0011032	Abnormality of fluid regulation	1629	DBT	OMIM:248600
HP:0011032	Abnormality of fluid regulation	593	BCKDHA	OMIM:248600
HP:0011032	Abnormality of fluid regulation	594	BCKDHB	OMIM:248600
HP:0011032	Abnormality of fluid regulation	4724	NDUFS4	OMIM:252010
HP:0011032	Abnormality of fluid regulation	5009	OTC	OMIM:311250
HP:0011032	Abnormality of fluid regulation	3785	KCNQ2	ORPHA:439218
HP:0011032	Abnormality of fluid regulation	10165	SLC25A13	ORPHA:247585
HP:0011032	Abnormality of fluid regulation	10165	SLC25A13	OMIM:603471
HP:0011032	Abnormality of fluid regulation	51692	CPSF3	OMIM:619876
HP:0011032	Abnormality of fluid regulation	435	ASL	OMIM:207900
HP:0011032	Abnormality of fluid regulation	708	C1QBP	OMIM:617713
HP:0011032	Abnormality of fluid regulation	445	ASS1	OMIM:215700
HP:0011032	Abnormality of fluid regulation	773	CACNA1A	ORPHA:569
HP:0011032	Abnormality of fluid regulation	112476	PRRT2	ORPHA:569
HP:0011032	Abnormality of fluid regulation	6323	SCN1A	ORPHA:569
HP:0011032	Abnormality of fluid regulation	477	ATP1A2	ORPHA:569
HP:0011032	Abnormality of fluid regulation	477	ATP1A2	OMIM:602481
HP:0011032	Abnormality of fluid regulation	5903	RANBP2	OMIM:608033
HP:0011032	Abnormality of fluid regulation	5903	RANBP2	ORPHA:88619
HP:0011032	Abnormality of fluid regulation	128240	NAXE	OMIM:617186
HP:0011032	Abnormality of fluid regulation	1376	CPT2	OMIM:614212
HP:0011032	Abnormality of fluid regulation	28976	ACAD9	OMIM:611126
HP:0011032	Abnormality of fluid regulation	28976	ACAD9	ORPHA:99901
HP:0011032	Abnormality of fluid regulation	1373	CPS1	OMIM:237300
HP:0011032	Abnormality of fluid regulation	3908	LAMA2	ORPHA:258
HP:0011032	Abnormality of fluid regulation	7187	TRAF3	ORPHA:1930
HP:0011032	Abnormality of fluid regulation	81622	UNC93B1	ORPHA:1930
HP:0011032	Abnormality of fluid regulation	148022	TICAM1	ORPHA:1930
HP:0011032	Abnormality of fluid regulation	7098	TLR3	ORPHA:1930
HP:0011032	Abnormality of fluid regulation	29110	TBK1	ORPHA:1930
HP:0011032	Abnormality of fluid regulation	83483	PLVAP	OMIM:618183
HP:0011032	Abnormality of fluid regulation	2294	FOXF1	OMIM:265380
HP:0011032	Abnormality of fluid regulation	144811	LACC1	ORPHA:85414
HP:0011032	Abnormality of fluid regulation	4282	MIF	ORPHA:85414
HP:0011032	Abnormality of fluid regulation	3123	HLA-DRB1	ORPHA:85414
HP:0011032	Abnormality of fluid regulation	3123	HLA-DRB1	ORPHA:545
HP:0011032	Abnormality of fluid regulation	3123	HLA-DRB1	OMIM:181000
HP:0011032	Abnormality of fluid regulation	3123	HLA-DRB1	ORPHA:797
HP:0011032	Abnormality of fluid regulation	3569	IL6	ORPHA:85414
HP:0011032	Abnormality of fluid regulation	51422	PRKAG2	OMIM:261740
HP:0011032	Abnormality of fluid regulation	595	CCND1	ORPHA:29073
HP:0011032	Abnormality of fluid regulation	8216	LZTR1	OMIM:616564
HP:0011032	Abnormality of fluid regulation	3702	ITK	OMIM:613011
HP:0011032	Abnormality of fluid regulation	9780	PIEZO1	OMIM:616843
HP:0011032	Abnormality of fluid regulation	6016	RIT1	OMIM:615355
HP:0011032	Abnormality of fluid regulation	2548	GAA	OMIM:232300
HP:0011032	Abnormality of fluid regulation	25821	MTO1	OMIM:614702
HP:0011032	Abnormality of fluid regulation	6775	STAT4	ORPHA:93552
HP:0011032	Abnormality of fluid regulation	6775	STAT4	ORPHA:117
HP:0011032	Abnormality of fluid regulation	6696	SPP1	ORPHA:93552
HP:0011032	Abnormality of fluid regulation	3654	IRAK1	ORPHA:93552
HP:0011032	Abnormality of fluid regulation	1776	DNASE1L3	ORPHA:36412
HP:0011032	Abnormality of fluid regulation	596	BCL2	ORPHA:545
HP:0011032	Abnormality of fluid regulation	3492	IGH	ORPHA:545
HP:0011032	Abnormality of fluid regulation	604	BCL6	ORPHA:545
HP:0011032	Abnormality of fluid regulation	1080	CFTR	OMIM:167800
HP:0011032	Abnormality of fluid regulation	11330	CTRC	OMIM:167800
HP:0011032	Abnormality of fluid regulation	6690	SPINK1	OMIM:167800
HP:0011032	Abnormality of fluid regulation	5645	PRSS2	OMIM:167800
HP:0011032	Abnormality of fluid regulation	5644	PRSS1	OMIM:167800
HP:0011032	Abnormality of fluid regulation	81	ACTN4	OMIM:603278
HP:0011032	Abnormality of fluid regulation	4210	MEFV	OMIM:249100
HP:0011032	Abnormality of fluid regulation	4210	MEFV	ORPHA:117
HP:0011032	Abnormality of fluid regulation	57169	ZNFX1	OMIM:619644
HP:0011032	Abnormality of fluid regulation	2050	EPHB4	OMIM:617300
HP:0011032	Abnormality of fluid regulation	2050	EPHB4	ORPHA:90186
HP:0011032	Abnormality of fluid regulation	84162	BLTP1	OMIM:617822
HP:0011032	Abnormality of fluid regulation	202018	TAPT1	OMIM:616897
HP:0011032	Abnormality of fluid regulation	3832	KIF11	ORPHA:2526
HP:0011032	Abnormality of fluid regulation	3075	CFH	ORPHA:244242
HP:0011032	Abnormality of fluid regulation	3426	CFI	ORPHA:244242
HP:0011032	Abnormality of fluid regulation	4179	CD46	ORPHA:244242
HP:0011032	Abnormality of fluid regulation	101101692	HELLPAR	ORPHA:244242
HP:0011032	Abnormality of fluid regulation	54345	SOX18	ORPHA:69735
HP:0011032	Abnormality of fluid regulation	10551	AGR2	OMIM:620233
HP:0011032	Abnormality of fluid regulation	8314	BAP1	ORPHA:50251
HP:0011032	Abnormality of fluid regulation	64135	IFIH1	OMIM:182250
HP:0011032	Abnormality of fluid regulation	2859	GPR35	ORPHA:171
HP:0011032	Abnormality of fluid regulation	10507	SEMA4D	ORPHA:171
HP:0011032	Abnormality of fluid regulation	4485	MST1	ORPHA:171
HP:0011032	Abnormality of fluid regulation	6925	TCF4	ORPHA:171
HP:0011032	Abnormality of fluid regulation	50619	DEF6	OMIM:619573
HP:0011032	Abnormality of fluid regulation	11274	USP18	OMIM:617397
HP:0011032	Abnormality of fluid regulation	738	VPS51	OMIM:618606
HP:0011032	Abnormality of fluid regulation	56244	BTNL2	OMIM:612387
HP:0011032	Abnormality of fluid regulation	56244	BTNL2	ORPHA:797
HP:0011032	Abnormality of fluid regulation	2492	FSHR	ORPHA:64739
HP:0011032	Abnormality of fluid regulation	147372	CCBE1	OMIM:235510
HP:0011032	Abnormality of fluid regulation	1130	LYST	ORPHA:167
HP:0011032	Abnormality of fluid regulation	4615	MYD88	ORPHA:33226
HP:0011032	Abnormality of fluid regulation	1536	CYBB	OMIM:306400
HP:0011032	Abnormality of fluid regulation	857	CAV1	OMIM:606721
HP:0011032	Abnormality of fluid regulation	440275	EIF2AK4	ORPHA:199241
HP:0011032	Abnormality of fluid regulation	10203	CALCRL	OMIM:618773
HP:0011032	Abnormality of fluid regulation	79415	CYBC1	OMIM:618935
HP:0011032	Abnormality of fluid regulation	9971	NR1H4	OMIM:617049
HP:0011032	Abnormality of fluid regulation	950	SCARB2	OMIM:254900
HP:0011032	Abnormality of fluid regulation	3077	HFE	OMIM:235200
HP:0011032	Abnormality of fluid regulation	650	BMP2	OMIM:235200
HP:0011032	Abnormality of fluid regulation	149233	IL23R	ORPHA:117
HP:0011032	Abnormality of fluid regulation	3586	IL10	ORPHA:117
HP:0011032	Abnormality of fluid regulation	1230	CCR1	ORPHA:117
HP:0011032	Abnormality of fluid regulation	355	FAS	ORPHA:117
HP:0011032	Abnormality of fluid regulation	3592	IL12A	ORPHA:117
HP:0011032	Abnormality of fluid regulation	101928376	IL12A-AS1	ORPHA:117
HP:0011032	Abnormality of fluid regulation	3106	HLA-B	ORPHA:117
HP:0011032	Abnormality of fluid regulation	7099	TLR4	ORPHA:117
HP:0011032	Abnormality of fluid regulation	3459	IFNGR1	ORPHA:117
HP:0011032	Abnormality of fluid regulation	720	C4A	ORPHA:117
HP:0011032	Abnormality of fluid regulation	337867	UBAC2	ORPHA:117
HP:0011032	Abnormality of fluid regulation	51752	ERAP1	ORPHA:117
HP:0011032	Abnormality of fluid regulation	8302	KLRC4	ORPHA:117
HP:0011032	Abnormality of fluid regulation	2324	FLT4	OMIM:153100
HP:0011032	Abnormality of fluid regulation	2324	FLT4	ORPHA:79452
HP:0011032	Abnormality of fluid regulation	2303	FOXC2	OMIM:153400
HP:0011032	Abnormality of fluid regulation	2303	FOXC2	ORPHA:33001
HP:0011032	Abnormality of fluid regulation	9620	CELSR1	OMIM:619319
HP:0011032	Abnormality of fluid regulation	1786	DNMT1	ORPHA:314404
HP:0011032	Abnormality of fluid regulation	1786	DNMT1	OMIM:604121
HP:0011032	Abnormality of fluid regulation	57165	GJC2	ORPHA:79452
HP:0011032	Abnormality of fluid regulation	771	CA12	OMIM:143860
HP:0011032	Abnormality of fluid regulation	27235	COQ2	ORPHA:255249
HP:0011032	Abnormality of fluid regulation	4638	MYLK	OMIM:249210
HP:0011032	Abnormality of fluid regulation	285489	DOK7	OMIM:618389
HP:0011032	Abnormality of fluid regulation	9722	NOS1AP	OMIM:619155
HP:0011032	Abnormality of fluid regulation	54916	TMEM260	OMIM:617478
HP:0011032	Abnormality of fluid regulation	26227	PHGDH	OMIM:256520
HP:0011032	Abnormality of fluid regulation	58	ACTA1	ORPHA:171430
HP:0011032	Abnormality of fluid regulation	4703	NEB	ORPHA:171430
HP:0011032	Abnormality of fluid regulation	131377	KLHL40	ORPHA:171430
HP:0011032	Abnormality of fluid regulation	10324	KLHL41	ORPHA:171430
HP:0011032	Abnormality of fluid regulation	56203	LMOD3	ORPHA:171430
HP:0011032	Abnormality of fluid regulation	5651	TMPRSS15	OMIM:226200
HP:0011032	Abnormality of fluid regulation	199857	ALG14	OMIM:619036
HP:0011032	Abnormality of fluid regulation	7092	TLL1	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	57057	TBX20	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	4624	MYH6	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	1482	NKX2-5	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	70	ACTC1	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	10370	CITED2	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	2626	GATA4	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	2627	GATA6	ORPHA:99103
HP:0011032	Abnormality of fluid regulation	8195	MKKS	OMIM:236700
HP:0011032	Abnormality of fluid regulation	2335	FN1	ORPHA:84090
HP:0011032	Abnormality of fluid regulation	64324	NSD1	ORPHA:821
HP:0011032	Abnormality of fluid regulation	29072	SETD2	ORPHA:821
HP:0011032	Abnormality of fluid regulation	10297	APC2	ORPHA:821
HP:0011032	Abnormality of fluid regulation	7075	TIE1	OMIM:619401
HP:0011032	Abnormality of fluid regulation	9158	FIBP	OMIM:617107
HP:0011032	Abnormality of fluid regulation	5573	PRKAR1A	ORPHA:615
HP:0011032	Abnormality of fluid regulation	3662	IRF4	ORPHA:3452
HP:0011032	Abnormality of fluid regulation	540	ATP7B	OMIM:277900
HP:0011032	Abnormality of fluid regulation	6638	SNRPN	ORPHA:98754
HP:0011032	Abnormality of fluid regulation	6638	SNRPN	ORPHA:177904
HP:0011032	Abnormality of fluid regulation	6638	SNRPN	ORPHA:177901
HP:0011032	Abnormality of fluid regulation	4692	NDN	ORPHA:98754
HP:0011032	Abnormality of fluid regulation	4692	NDN	ORPHA:177904
HP:0011032	Abnormality of fluid regulation	4692	NDN	ORPHA:177901
HP:0011032	Abnormality of fluid regulation	54551	MAGEL2	ORPHA:98754
HP:0011032	Abnormality of fluid regulation	54551	MAGEL2	ORPHA:177904
HP:0011032	Abnormality of fluid regulation	54551	MAGEL2	ORPHA:177901
HP:0011032	Abnormality of fluid regulation	4948	OCA2	ORPHA:98754
HP:0011032	Abnormality of fluid regulation	4948	OCA2	ORPHA:177904
HP:0011032	Abnormality of fluid regulation	4948	OCA2	ORPHA:177901
HP:0011032	Abnormality of fluid regulation	84196	USP48	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	7157	TP53	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	9101	USP8	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	64072	CDH23	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	2908	NR3C1	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	673	BRAF	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	546	ATRX	ORPHA:96253
HP:0011032	Abnormality of fluid regulation	9326	ZNHIT3	ORPHA:2836
HP:0011032	Abnormality of fluid regulation	547	KIF1A	ORPHA:2836
HP:0011032	Abnormality of fluid regulation	1280	COL2A1	ORPHA:166011
HP:0011032	Abnormality of fluid regulation	7424	VEGFC	OMIM:615907
HP:0011032	Abnormality of fluid regulation	1277	COL1A1	ORPHA:287
HP:0011032	Abnormality of fluid regulation	1289	COL5A1	ORPHA:287
HP:0011032	Abnormality of fluid regulation	1290	COL5A2	ORPHA:287
HP:0011032	Abnormality of fluid regulation	1009	CDH11	ORPHA:1299
HP:0011032	Abnormality of fluid regulation	9509	ADAMTS2	OMIM:225410
HP:0011032	Abnormality of fluid regulation	2934	GSN	ORPHA:85448
HP:0011032	Abnormality of fluid regulation	23476	BRD4	ORPHA:199
HP:0011032	Abnormality of fluid regulation	9126	SMC3	ORPHA:199
HP:0011032	Abnormality of fluid regulation	8243	SMC1A	ORPHA:199
HP:0011032	Abnormality of fluid regulation	25836	NIPBL	ORPHA:199
HP:0011032	Abnormality of fluid regulation	55869	HDAC8	ORPHA:199
HP:0011032	Abnormality of fluid regulation	5885	RAD21	ORPHA:199
HP:0011032	Abnormality of fluid regulation	699	BUB1	OMIM:620183
HP:0011032	Abnormality of fluid regulation	699	BUB1	ORPHA:1052
HP:0011032	Abnormality of fluid regulation	1725	DHPS	OMIM:618480
HP:0011032	Abnormality of fluid regulation	104	ADARB1	OMIM:618862
HP:0011032	Abnormality of fluid regulation	29895	MYL11	OMIM:619110
HP:0011032	Abnormality of fluid regulation	10274	STAG1	OMIM:617635
HP:0011032	Abnormality of fluid regulation	2261	FGFR3	ORPHA:1860
HP:0011032	Abnormality of fluid regulation	2261	FGFR3	ORPHA:93274
HP:0011032	Abnormality of fluid regulation	6804	STX1A	ORPHA:904
HP:0011032	Abnormality of fluid regulation	7461	CLIP2	ORPHA:904
HP:0011032	Abnormality of fluid regulation	84277	DNAJC30	ORPHA:904
HP:0011032	Abnormality of fluid regulation	8468	FKBP6	ORPHA:904
HP:0011032	Abnormality of fluid regulation	5982	RFC2	ORPHA:904
HP:0011032	Abnormality of fluid regulation	2969	GTF2I	ORPHA:904
HP:0011032	Abnormality of fluid regulation	3984	LIMK1	ORPHA:904
HP:0011032	Abnormality of fluid regulation	9569	GTF2IRD1	ORPHA:904
HP:0011032	Abnormality of fluid regulation	155382	VPS37D	ORPHA:904
HP:0011032	Abnormality of fluid regulation	155368	METTL27	ORPHA:904
HP:0011032	Abnormality of fluid regulation	114049	BUD23	ORPHA:904
HP:0011032	Abnormality of fluid regulation	7458	EIF4H	ORPHA:904
HP:0011032	Abnormality of fluid regulation	84163	GTF2IRD2	ORPHA:904
HP:0011032	Abnormality of fluid regulation	9275	BCL7B	ORPHA:904
HP:0011032	Abnormality of fluid regulation	26608	TBL2	ORPHA:904
HP:0011032	Abnormality of fluid regulation	653361	NCF1	ORPHA:904
HP:0011032	Abnormality of fluid regulation	135886	TMEM270	ORPHA:904
HP:0011032	Abnormality of fluid regulation	51085	MLXIPL	ORPHA:904
HP:0011032	Abnormality of fluid regulation	9031	BAZ1B	ORPHA:904
HP:0011032	Abnormality of fluid regulation	2006	ELN	ORPHA:904
HP:0011032	Abnormality of fluid regulation	79770	TXNDC15	OMIM:619879
HP:0011032	Abnormality of fluid regulation	415	ARSL	ORPHA:79345
HP:0011032	Abnormality of fluid regulation	83475	DOHH	OMIM:620066
HP:0011032	Abnormality of fluid regulation	3190	HNRNPK	ORPHA:352665
HP:0011032	Abnormality of fluid regulation	3190	HNRNPK	ORPHA:453504
HP:0011032	Abnormality of fluid regulation	23556	PIGN	ORPHA:280633
HP:0011032	Abnormality of fluid regulation	9184	BUB3	ORPHA:1052
HP:0011032	Abnormality of fluid regulation	9702	CEP57	ORPHA:1052
HP:0011032	Abnormality of fluid regulation	9319	TRIP13	ORPHA:1052
HP:0011032	Abnormality of fluid regulation	701	BUB1B	ORPHA:1052
HP:0011032	Abnormality of fluid regulation	1822	ATN1	OMIM:618494
HP:0011032	Abnormality of fluid regulation	55790	CSGALNACT1	OMIM:618870
HP:0011032	Abnormality of fluid regulation	10082	GPC6	ORPHA:93329
HP:0011032	Abnormality of fluid regulation	4953	ODC1	ORPHA:544488
HP:0011032	Abnormality of fluid regulation	1717	DHCR7	ORPHA:818
HP:0011032	Abnormality of fluid regulation	168667	BMPER	OMIM:608022
HP:0011032	Abnormality of fluid regulation	3105	HLA-A	ORPHA:179
HP:0011032	Abnormality of fluid regulation	403	ARL3	OMIM:618173
HP:0011032	Abnormality of fluid regulation	5961	PRPH2	ORPHA:52427
HP:0011032	Abnormality of fluid regulation	6017	RLBP1	ORPHA:52427
HP:0011032	Abnormality of fluid regulation	6010	RHO	ORPHA:52427
HP:0011032	Abnormality of fluid regulation	5959	RDH5	ORPHA:52427
HP:0011032	Abnormality of fluid regulation	10594	PRPF8	OMIM:600059
HP:0011032	Abnormality of fluid regulation	23370	ARHGEF18	OMIM:617433
HP:0011032	Abnormality of fluid regulation	83552	MFRP	OMIM:611040
HP:0011032	Abnormality of fluid regulation	55624	POMGNT1	OMIM:617123
HP:0011032	Abnormality of fluid regulation	5148	PDE6G	OMIM:613582
HP:0011032	Abnormality of fluid regulation	92840	REEP6	OMIM:617304
HP:0011032	Abnormality of fluid regulation	94137	RP1L1	OMIM:618826
HP:0011032	Abnormality of fluid regulation	285440	CYP4V2	ORPHA:41751
HP:0011032	Abnormality of fluid regulation	79947	DHDDS	OMIM:613861
HP:0011032	Abnormality of fluid regulation	3419	IDH3A	OMIM:619007
HP:0011032	Abnormality of fluid regulation	57670	KIAA1549	OMIM:618613
HP:0011032	Abnormality of fluid regulation	55975	KLHL7	OMIM:612943
HP:0011032	Abnormality of fluid regulation	5159	PDGFRB	OMIM:601812
HP:0011032	Abnormality of fluid regulation	7010	TEK	OMIM:617272
HP:0011032	Abnormality of fluid regulation	30813	VSX1	ORPHA:98973
HP:0011032	Abnormality of fluid regulation	58495	OVOL2	ORPHA:98973
HP:0011032	Abnormality of fluid regulation	79977	GRHL2	ORPHA:98973
HP:0011032	Abnormality of fluid regulation	1798	DPAGT1	ORPHA:86309
HP:0011032	Abnormality of fluid regulation	197131	UBR1	OMIM:243800
HP:0011032	Abnormality of fluid regulation	10056	FARSB	OMIM:613658
HP:0011032	Abnormality of fluid regulation	5428	POLG	OMIM:203700
HP:0011032	Abnormality of fluid regulation	9373	PLAA	ORPHA:521426
HP:0011032	Abnormality of fluid regulation	7051	TGM1	ORPHA:281127
HP:0011032	Abnormality of fluid regulation	11342	RNF13	ORPHA:544503
HP:0011032	Abnormality of fluid regulation	9939	RBM8A	OMIM:274000
HP:0011032	Abnormality of fluid regulation	10568	SLC34A2	ORPHA:60025
HP:0011032	Abnormality of fluid regulation	84665	MYPN	ORPHA:75249
HP:0011032	Abnormality of fluid regulation	2318	FLNC	ORPHA:75249
HP:0011032	Abnormality of fluid regulation	7139	TNNT2	ORPHA:75249
HP:0011032	Abnormality of fluid regulation	7137	TNNI3	ORPHA:75249
HP:0011032	Abnormality of fluid regulation	10112	KIF20A	ORPHA:75249
HP:0011032	Abnormality of fluid regulation	7994	KAT6A	OMIM:616268
HP:0011032	Abnormality of fluid regulation	22907	DHX30	OMIM:617804
HP:0011032	Abnormality of fluid regulation	55315	SLC29A3	ORPHA:168569
HP:0011032	Abnormality of fluid regulation	116931	MED12L	OMIM:618872
HP:0011032	Abnormality of fluid regulation	54453	RIN2	ORPHA:217335
HP:0011032	Abnormality of fluid regulation	55691	FRMD4A	OMIM:616819
HP:0011032	Abnormality of fluid regulation	57511	COG6	OMIM:614576
HP:0011032	Abnormality of fluid regulation	7428	VHL	ORPHA:892
HP:0011032	Abnormality of fluid regulation	10002	NR2E3	OMIM:268100
HP:0011032	Abnormality of fluid regulation	26121	PRPF31	OMIM:600138
HP:0011032	Abnormality of fluid regulation	11277	TREX1	ORPHA:247691
HP:0011032	Abnormality of fluid regulation	11277	TREX1	OMIM:192315
HP:0011032	Abnormality of fluid regulation	4901	NRL	OMIM:613750
HP:0011032	Abnormality of fluid regulation	6100	RP9	OMIM:180104
HP:0011032	Abnormality of fluid regulation	51371	POMP	OMIM:618048
HP:0011032	Abnormality of fluid regulation	5692	PSMB4	OMIM:617591
HP:0011032	Abnormality of fluid regulation	5698	PSMB9	OMIM:617591
HP:0011032	Abnormality of fluid regulation	8425	LTBP4	OMIM:613177
HP:0011032	Abnormality of fluid regulation	3115	HLA-DPB1	ORPHA:900
HP:0011032	Abnormality of fluid regulation	5657	PRTN3	ORPHA:900
HP:0011032	Abnormality of fluid regulation	3113	HLA-DPA1	ORPHA:900
HP:0011032	Abnormality of fluid regulation	285362	SUMF1	OMIM:272200
HP:0011032	Abnormality of fluid regulation	3321	IGSF3	OMIM:149700
HP:0011032	Abnormality of fluid regulation	2290	FOXG1	ORPHA:261144
HP:0011032	Abnormality of fluid regulation	6711	SPTBN1	OMIM:619475
HP:0011032	Abnormality of fluid regulation	7045	TGFBI	OMIM:608470
HP:0011032	Abnormality of fluid regulation	284252	KCTD1	ORPHA:2036
HP:0011032	Abnormality of fluid regulation	284252	KCTD1	OMIM:181270
HP:0011032	Abnormality of fluid regulation	5828	PEX2	OMIM:614866
HP:0011032	Abnormality of fluid regulation	5457	POU4F1	ORPHA:314647
HP:0011032	Abnormality of fluid regulation	23261	CAMTA1	ORPHA:314647
HP:0011032	Abnormality of fluid regulation	23261	CAMTA1	OMIM:614756
HP:0011032	Abnormality of fluid regulation	5830	PEX5	OMIM:214110
HP:0011032	Abnormality of fluid regulation	5293	PIK3CD	ORPHA:221139
HP:0011032	Abnormality of fluid regulation	90417	KNSTRN	ORPHA:221139
HP:0011032	Abnormality of fluid regulation	22947	DUX4L1	ORPHA:269
HP:0011032	Abnormality of fluid regulation	1789	DNMT3B	ORPHA:269
HP:0011032	Abnormality of fluid regulation	2483	FRG1	ORPHA:269
HP:0011032	Abnormality of fluid regulation	23347	SMCHD1	ORPHA:269
HP:0011032	Abnormality of fluid regulation	100288687	DUX4	ORPHA:269
HP:0011032	Abnormality of fluid regulation	71	ACTG1	ORPHA:2995
HP:0011032	Abnormality of fluid regulation	60	ACTB	ORPHA:2995
HP:0011032	Abnormality of fluid regulation	11133	KPTN	ORPHA:397612
HP:0011032	Abnormality of fluid regulation	84168	ANTXR1	ORPHA:2067
HP:0011032	Abnormality of fluid regulation	5723	PSPH	ORPHA:79350
HP:0011032	Abnormality of fluid regulation	79158	GNPTAB	OMIM:252500
HP:0011032	Abnormality of fluid regulation	57231	SNX14	ORPHA:397709
HP:0011032	Abnormality of fluid regulation	55343	SLC35C1	ORPHA:99843
HP:0011032	Abnormality of fluid regulation	10128	LRPPRC	OMIM:220111
HP:0011032	Abnormality of fluid regulation	137814	NKX2-6	ORPHA:3384
HP:0011032	Abnormality of fluid regulation	23129	PLXND1	ORPHA:3384
HP:0011032	Abnormality of fluid regulation	4607	MYBPC3	OMIM:115197
HP:0011032	Abnormality of fluid regulation	54914	FOCAD	OMIM:619991
HP:0011032	Abnormality of fluid regulation	4519	MT-CYB	ORPHA:137675
HP:0011032	Abnormality of fluid regulation	7276	TTR	OMIM:105210
HP:0011032	Abnormality of fluid regulation	7841	MOGS	ORPHA:79330
HP:0011032	Abnormality of fluid regulation	6440	SFTPC	ORPHA:70587
HP:0011032	Abnormality of fluid regulation	21	ABCA3	ORPHA:70587
HP:0011032	Abnormality of fluid regulation	6439	SFTPB	ORPHA:70587
HP:0011032	Abnormality of fluid regulation	1369	CPN1	OMIM:212070
HP:0011032	Abnormality of fluid regulation	11005	SPINK5	OMIM:256500
HP:0011032	Abnormality of fluid regulation	5336	PLCG2	OMIM:614468
HP:0011032	Abnormality of fluid regulation	3815	KIT	ORPHA:79455
HP:0011032	Abnormality of fluid regulation	8291	DYSF	ORPHA:268
HP:0031452	Lichenoid skin lesion	3643	INSR	ORPHA:769
HP:0031452	Lichenoid skin lesion	57152	SLURP1	ORPHA:87503
HP:0031454	Apocrine hidrocystoma	80326	WNT10A	OMIM:224750
HP:0031457	Pulmonary opacity	6439	SFTPB	OMIM:265120
HP:0031457	Pulmonary opacity	3115	HLA-DPB1	ORPHA:133
HP:0031457	Pulmonary opacity	1438	CSF2RA	OMIM:300770
HP:0031457	Pulmonary opacity	64135	IFIH1	OMIM:619773
HP:0031457	Pulmonary opacity	653509	SFTPA1	OMIM:619611
HP:0031457	Pulmonary opacity	653509	SFTPA1	ORPHA:2032
HP:0031457	Pulmonary opacity	6440	SFTPC	ORPHA:2032
HP:0031457	Pulmonary opacity	6440	SFTPC	OMIM:610913
HP:0031457	Pulmonary opacity	729238	SFTPA2	ORPHA:2032
HP:0031457	Pulmonary opacity	79991	STN1	ORPHA:2032
HP:0031457	Pulmonary opacity	21	ABCA3	ORPHA:2032
HP:0031457	Pulmonary opacity	21	ABCA3	OMIM:610921
HP:0031457	Pulmonary opacity	1832	DSP	ORPHA:2032
HP:0031457	Pulmonary opacity	727897	MUC5B	ORPHA:2032
HP:0031457	Pulmonary opacity	10144	FAM13A	ORPHA:2032
HP:0031457	Pulmonary opacity	23250	ATP11A	ORPHA:2032
HP:0031457	Pulmonary opacity	91039	DPP9	ORPHA:2032
HP:0031457	Pulmonary opacity	51750	RTEL1	ORPHA:2032
HP:0031457	Pulmonary opacity	7012	TERC	ORPHA:2032
HP:0031457	Pulmonary opacity	5073	PARN	ORPHA:2032
HP:0031457	Pulmonary opacity	7015	TERT	ORPHA:2032
HP:0031457	Pulmonary opacity	440275	EIF2AK4	ORPHA:199241
HP:0031457	Pulmonary opacity	1439	CSF2RB	OMIM:614370
HP:0031457	Pulmonary opacity	10568	SLC34A2	ORPHA:60025
HP:0031457	Pulmonary opacity	10551	AGR2	OMIM:620233
HP:0031457	Pulmonary opacity	7080	NKX2-1	OMIM:610978
HP:0031457	Pulmonary opacity	659	BMPR2	OMIM:265450
HP:0031457	Pulmonary opacity	1281	COL3A1	OMIM:130050
HP:0031459	Soft tissue neoplasm	1287	COL4A5	OMIM:301050
HP:0031459	Soft tissue neoplasm	1287	COL4A5	ORPHA:1018
HP:0031459	Soft tissue neoplasm	1288	COL4A6	ORPHA:1018
HP:0031459	Soft tissue neoplasm	5159	PDGFRB	OMIM:228550
HP:0031459	Soft tissue neoplasm	5159	PDGFRB	OMIM:616592
HP:0031459	Soft tissue neoplasm	4854	NOTCH3	OMIM:615293
HP:0031459	Soft tissue neoplasm	4665	NAB2	ORPHA:2126
HP:0031459	Soft tissue neoplasm	6778	STAT6	ORPHA:2126
HP:0031459	Soft tissue neoplasm	324	APC	ORPHA:99818
HP:0100570	Carcinoid tumor	324	APC	OMIM:175100
HP:0100570	Carcinoid tumor	324	APC	ORPHA:79665
HP:0100570	Carcinoid tumor	4000	LMNA	ORPHA:363618
HP:0100570	Carcinoid tumor	4221	MEN1	ORPHA:652
HP:0100570	Carcinoid tumor	1027	CDKN1B	ORPHA:652
HP:0100570	Carcinoid tumor	1027	CDKN1B	ORPHA:276152
HP:0100570	Carcinoid tumor	1026	CDKN1A	ORPHA:652
HP:0100570	Carcinoid tumor	1030	CDKN2B	ORPHA:652
HP:0100570	Carcinoid tumor	1031	CDKN2C	ORPHA:652
HP:0100570	Carcinoid tumor	1616	DAXX	ORPHA:100075
HP:0100570	Carcinoid tumor	546	ATRX	ORPHA:100075
HP:0100570	Carcinoid tumor	6392	SDHD	ORPHA:100093
HP:0100570	Carcinoid tumor	3458	IFNG	ORPHA:805
HP:0100570	Carcinoid tumor	7248	TSC1	ORPHA:805
HP:0100570	Carcinoid tumor	7249	TSC2	ORPHA:805
HP:0100571	Cardiac diverticulum	64218	SEMA4A	ORPHA:440437
HP:0100571	Cardiac diverticulum	657	BMPR1A	ORPHA:440437
HP:0100571	Cardiac diverticulum	6224	RPS20	ORPHA:440437
HP:0100571	Cardiac diverticulum	4072	EPCAM	ORPHA:144
HP:0100571	Cardiac diverticulum	4292	MLH1	ORPHA:144
HP:0100571	Cardiac diverticulum	5395	PMS2	ORPHA:144
HP:0100571	Cardiac diverticulum	27030	MLH3	ORPHA:144
HP:0100571	Cardiac diverticulum	22909	FAN1	ORPHA:144
HP:0100571	Cardiac diverticulum	7048	TGFBR2	ORPHA:144
HP:0100571	Cardiac diverticulum	3845	KRAS	ORPHA:144
HP:0100571	Cardiac diverticulum	5290	PIK3CA	ORPHA:144
HP:0100571	Cardiac diverticulum	2956	MSH6	ORPHA:144
HP:0100571	Cardiac diverticulum	5378	PMS1	ORPHA:144
HP:0100571	Cardiac diverticulum	4436	MSH2	ORPHA:144
HP:0100574	Biliary tract neoplasm	654	BMP6	ORPHA:465508
HP:0100574	Biliary tract neoplasm	3077	HFE	ORPHA:465508
HP:0100574	Biliary tract neoplasm	2859	GPR35	ORPHA:171
HP:0100574	Biliary tract neoplasm	10507	SEMA4D	ORPHA:171
HP:0100574	Biliary tract neoplasm	4485	MST1	ORPHA:171
HP:0100574	Biliary tract neoplasm	6925	TCF4	ORPHA:171
HP:0100574	Biliary tract neoplasm	199221	DZIP1L	ORPHA:731
HP:0100574	Biliary tract neoplasm	5314	PKHD1	ORPHA:731
HP:0100574	Biliary tract neoplasm	5314	PKHD1	ORPHA:53035
HP:0100574	Biliary tract neoplasm	672	BRCA1	ORPHA:70567
HP:0100574	Biliary tract neoplasm	675	BRCA2	ORPHA:70567
HP:0100574	Biliary tract neoplasm	5774	PTPN3	ORPHA:70567
HP:0100574	Biliary tract neoplasm	6794	STK11	ORPHA:2869
HP:0100574	Biliary tract neoplasm	54894	RNF43	ORPHA:157798
HP:0100574	Biliary tract neoplasm	410	ARSA	ORPHA:309271
HP:0100574	Biliary tract neoplasm	5660	PSAP	ORPHA:309271
HP:0100575	Neoplasm of the gallbladder	410	ARSA	ORPHA:309271
HP:0100575	Neoplasm of the gallbladder	5660	PSAP	ORPHA:309271
HP:0100575	Neoplasm of the gallbladder	2859	GPR35	ORPHA:171
HP:0100575	Neoplasm of the gallbladder	10507	SEMA4D	ORPHA:171
HP:0100575	Neoplasm of the gallbladder	4485	MST1	ORPHA:171
HP:0100575	Neoplasm of the gallbladder	6925	TCF4	ORPHA:171
HP:0100576	Amaurosis fugax	26191	PTPN22	ORPHA:397
HP:0100576	Amaurosis fugax	3106	HLA-B	ORPHA:397
HP:0100576	Amaurosis fugax	3106	HLA-B	ORPHA:3287
HP:0100576	Amaurosis fugax	3123	HLA-DRB1	ORPHA:397
HP:0100576	Amaurosis fugax	8974	P4HA2	ORPHA:397
HP:0100576	Amaurosis fugax	4072	EPCAM	ORPHA:144
HP:0100576	Amaurosis fugax	4292	MLH1	ORPHA:144
HP:0100576	Amaurosis fugax	5395	PMS2	ORPHA:144
HP:0100576	Amaurosis fugax	27030	MLH3	ORPHA:144
HP:0100576	Amaurosis fugax	22909	FAN1	ORPHA:144
HP:0100576	Amaurosis fugax	7048	TGFBR2	ORPHA:144
HP:0100576	Amaurosis fugax	3845	KRAS	ORPHA:144
HP:0100576	Amaurosis fugax	5290	PIK3CA	ORPHA:144
HP:0100576	Amaurosis fugax	2956	MSH6	ORPHA:144
HP:0100576	Amaurosis fugax	5378	PMS1	ORPHA:144
HP:0100576	Amaurosis fugax	4436	MSH2	ORPHA:144
HP:0100576	Amaurosis fugax	151	ADRA2B	ORPHA:86814
HP:0100576	Amaurosis fugax	55689	YEATS2	ORPHA:86814
HP:0100576	Amaurosis fugax	1501	CTNND2	ORPHA:86814
HP:0100576	Amaurosis fugax	10299	MARCHF6	ORPHA:86814
HP:0100576	Amaurosis fugax	6900	CNTN2	ORPHA:86814
HP:0100576	Amaurosis fugax	401474	SAMD12	ORPHA:86814
HP:0100576	Amaurosis fugax	64218	SEMA4A	ORPHA:440437
HP:0100576	Amaurosis fugax	657	BMPR1A	ORPHA:440437
HP:0100576	Amaurosis fugax	6224	RPS20	ORPHA:440437
HP:0100576	Amaurosis fugax	10019	SH2B3	ORPHA:3318
HP:0100576	Amaurosis fugax	811	CALR	ORPHA:3318
HP:0100576	Amaurosis fugax	7157	TP53	ORPHA:3318
HP:0100576	Amaurosis fugax	4352	MPL	ORPHA:3318
HP:0100576	Amaurosis fugax	3717	JAK2	ORPHA:3318
HP:0100576	Amaurosis fugax	54790	TET2	ORPHA:3318
HP:0100576	Amaurosis fugax	3593	IL12B	ORPHA:3287
HP:0100576	Amaurosis fugax	6945	MLX	ORPHA:3287
HP:0100576	Amaurosis fugax	51816	ADA2	ORPHA:820
HP:0100576	Amaurosis fugax	773	CACNA1A	ORPHA:569
HP:0100576	Amaurosis fugax	112476	PRRT2	ORPHA:569
HP:0100576	Amaurosis fugax	6323	SCN1A	ORPHA:569
HP:0100576	Amaurosis fugax	477	ATP1A2	ORPHA:569
HP:0100577	Urinary bladder inflammation	3655	ITGA6	ORPHA:79403
HP:0100577	Urinary bladder inflammation	3691	ITGB4	ORPHA:79403
HP:0100578	Lipoatrophy	5290	PIK3CA	ORPHA:276280
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:280365
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:154
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:79084
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:363618
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:79474
HP:0100578	Lipoatrophy	4000	LMNA	ORPHA:2348
HP:0100578	Lipoatrophy	5295	PIK3R1	OMIM:269880
HP:0100578	Lipoatrophy	55131	RBM28	ORPHA:157954
HP:0100578	Lipoatrophy	9015	TAF1A	ORPHA:154
HP:0100578	Lipoatrophy	5663	PSEN1	ORPHA:154
HP:0100578	Lipoatrophy	6389	SDHA	ORPHA:154
HP:0100578	Lipoatrophy	7112	TMPO	ORPHA:154
HP:0100578	Lipoatrophy	9464	HAND2	ORPHA:154
HP:0100578	Lipoatrophy	4625	MYH7	ORPHA:154
HP:0100578	Lipoatrophy	88	ACTN2	ORPHA:154
HP:0100578	Lipoatrophy	10486	CAP2	ORPHA:154
HP:0100578	Lipoatrophy	10060	ABCC9	ORPHA:154
HP:0100578	Lipoatrophy	7168	TPM1	ORPHA:154
HP:0100578	Lipoatrophy	7414	VCL	ORPHA:154
HP:0100578	Lipoatrophy	1832	DSP	ORPHA:154
HP:0100578	Lipoatrophy	70	ACTC1	ORPHA:154
HP:0100578	Lipoatrophy	27063	ANKRD1	ORPHA:154
HP:0100578	Lipoatrophy	8048	CSRP3	ORPHA:154
HP:0100578	Lipoatrophy	1410	CRYAB	ORPHA:154
HP:0100578	Lipoatrophy	7139	TNNT2	ORPHA:154
HP:0100578	Lipoatrophy	1829	DSG2	ORPHA:154
HP:0100578	Lipoatrophy	3910	LAMA4	ORPHA:154
HP:0100578	Lipoatrophy	63976	PRDM16	ORPHA:154
HP:0100578	Lipoatrophy	7273	TTN	ORPHA:154
HP:0100578	Lipoatrophy	10587	TXNRD2	ORPHA:154
HP:0100578	Lipoatrophy	9531	BAG3	ORPHA:154
HP:0100578	Lipoatrophy	5350	PLN	ORPHA:154
HP:0100578	Lipoatrophy	91624	NEXN	ORPHA:154
HP:0100578	Lipoatrophy	79717	PPCS	ORPHA:154
HP:0100578	Lipoatrophy	5664	PSEN2	ORPHA:154
HP:0100578	Lipoatrophy	4624	MYH6	ORPHA:154
HP:0100578	Lipoatrophy	9529	BAG5	ORPHA:154
HP:0100578	Lipoatrophy	4607	MYBPC3	ORPHA:154
HP:0100578	Lipoatrophy	282996	RBM20	ORPHA:154
HP:0100578	Lipoatrophy	7137	TNNI3	ORPHA:154
HP:0100578	Lipoatrophy	11155	LDB3	ORPHA:154
HP:0100578	Lipoatrophy	2274	FHL2	ORPHA:154
HP:0100578	Lipoatrophy	6901	TAFAZZIN	ORPHA:154
HP:0100578	Lipoatrophy	22845	DOLK	ORPHA:154
HP:0100578	Lipoatrophy	5894	RAF1	ORPHA:154
HP:0100578	Lipoatrophy	1756	DMD	ORPHA:154
HP:0100578	Lipoatrophy	57798	GATAD1	ORPHA:154
HP:0100578	Lipoatrophy	7134	TNNC1	ORPHA:154
HP:0100578	Lipoatrophy	84665	MYPN	ORPHA:154
HP:0100578	Lipoatrophy	1674	DES	ORPHA:154
HP:0100578	Lipoatrophy	6444	SGCD	ORPHA:154
HP:0100578	Lipoatrophy	6331	SCN5A	ORPHA:154
HP:0100578	Lipoatrophy	2218	FKTN	ORPHA:154
HP:0100578	Lipoatrophy	8557	TCAP	ORPHA:154
HP:0100578	Lipoatrophy	2200	FBN1	ORPHA:2833
HP:0100578	Lipoatrophy	2200	FBN1	ORPHA:284979
HP:0100578	Lipoatrophy	2200	FBN1	OMIM:616914
HP:0100578	Lipoatrophy	5468	PPARG	ORPHA:79083
HP:0100578	Lipoatrophy	8815	BANF1	OMIM:614008
HP:0100578	Lipoatrophy	60	ACTB	ORPHA:64755
HP:0100578	Lipoatrophy	5346	PLIN1	OMIM:613877
HP:0100578	Lipoatrophy	5346	PLIN1	ORPHA:280356
HP:0100578	Lipoatrophy	84823	LMNB2	ORPHA:79087
HP:0100578	Lipoatrophy	11128	POLR3A	OMIM:264090
HP:0100578	Lipoatrophy	11128	POLR3A	ORPHA:3455
HP:0100578	Lipoatrophy	7486	WRN	ORPHA:902
HP:0100578	Lipoatrophy	2517	FUCA1	ORPHA:349
HP:0100578	Lipoatrophy	5159	PDGFRB	OMIM:601812
HP:0100578	Lipoatrophy	79827	CLMP	ORPHA:2301
HP:0100578	Lipoatrophy	2316	FLNA	ORPHA:2301
HP:0100578	Lipoatrophy	10535	RNASEH2A	ORPHA:51
HP:0100578	Lipoatrophy	84153	RNASEH2C	ORPHA:51
HP:0100578	Lipoatrophy	25939	SAMHD1	ORPHA:51
HP:0100578	Lipoatrophy	79621	RNASEH2B	ORPHA:51
HP:0100578	Lipoatrophy	103	ADAR	ORPHA:51
HP:0100578	Lipoatrophy	11277	TREX1	ORPHA:51
HP:0100578	Lipoatrophy	100147744	RNU7-1	ORPHA:51
HP:0100578	Lipoatrophy	134353	LSM11	ORPHA:51
HP:0100578	Lipoatrophy	64135	IFIH1	ORPHA:51
HP:0100578	Lipoatrophy	1281	COL3A1	ORPHA:2500
HP:0100578	Lipoatrophy	29957	SLC25A24	ORPHA:2963
HP:0100579	Mucosal telangiectasiae	3978	LIG1	OMIM:619774
HP:0100579	Mucosal telangiectasiae	23328	SASH1	OMIM:618373
HP:0100579	Mucosal telangiectasiae	4683	NBN	OMIM:251260
HP:0100579	Mucosal telangiectasiae	5648	MASP1	OMIM:257920
HP:0100579	Mucosal telangiectasiae	23064	SETX	OMIM:606002
HP:0100579	Mucosal telangiectasiae	5190	PEX6	ORPHA:95433
HP:0100579	Mucosal telangiectasiae	165918	RNF168	ORPHA:420741
HP:0100579	Mucosal telangiectasiae	5111	PCNA	OMIM:615919
HP:0100579	Mucosal telangiectasiae	5476	CTSA	OMIM:256540
HP:0100579	Mucosal telangiectasiae	2068	ERCC2	ORPHA:910
HP:0100579	Mucosal telangiectasiae	7507	XPA	ORPHA:910
HP:0100579	Mucosal telangiectasiae	2071	ERCC3	ORPHA:910
HP:0100579	Mucosal telangiectasiae	7508	XPC	ORPHA:910
HP:0100579	Mucosal telangiectasiae	1643	DDB2	ORPHA:910
HP:0100579	Mucosal telangiectasiae	2072	ERCC4	ORPHA:910
HP:0100579	Mucosal telangiectasiae	2073	ERCC5	ORPHA:910
HP:0100579	Mucosal telangiectasiae	2776	GNAQ	ORPHA:3205
HP:0100579	Mucosal telangiectasiae	80169	CTC1	OMIM:612199
HP:0100579	Mucosal telangiectasiae	4668	NAGA	ORPHA:79280
HP:0100579	Mucosal telangiectasiae	4668	NAGA	OMIM:609242
HP:0100579	Mucosal telangiectasiae	472	ATM	ORPHA:100
HP:0100579	Mucosal telangiectasiae	2658	GDF2	ORPHA:774
HP:0100579	Mucosal telangiectasiae	94	ACVRL1	ORPHA:774
HP:0100579	Mucosal telangiectasiae	4089	SMAD4	ORPHA:774
HP:0100579	Mucosal telangiectasiae	2022	ENG	ORPHA:774
HP:0100579	Mucosal telangiectasiae	10483	SEC23B	ORPHA:201
HP:0100579	Mucosal telangiectasiae	5728	PTEN	ORPHA:201
HP:0100579	Mucosal telangiectasiae	6390	SDHB	ORPHA:201
HP:0100579	Mucosal telangiectasiae	6392	SDHD	ORPHA:201
HP:0100579	Mucosal telangiectasiae	6391	SDHC	ORPHA:201
HP:0100579	Mucosal telangiectasiae	207	AKT1	ORPHA:201
HP:0100579	Mucosal telangiectasiae	205717	USF3	ORPHA:201
HP:0100579	Mucosal telangiectasiae	5290	PIK3CA	ORPHA:201
HP:0100579	Mucosal telangiectasiae	100144748	KLLN	ORPHA:201
HP:0100579	Mucosal telangiectasiae	3930	LBR	ORPHA:779
HP:0100579	Mucosal telangiectasiae	1235	CCR6	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	79932	KIAA0319L	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	1490	CCN2	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	3663	IRF5	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	857	CAV1	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	3123	HLA-DRB1	ORPHA:220402
HP:0100579	Mucosal telangiectasiae	2717	GLA	ORPHA:324
HP:0011042	Abnormal blood potassium concentration	5076	PAX2	ORPHA:97362
HP:0011042	Abnormal blood potassium concentration	5087	PBX1	ORPHA:97362
HP:0011042	Abnormal blood potassium concentration	4791	NFKB2	ORPHA:293978
HP:0011042	Abnormal blood potassium concentration	5447	POR	OMIM:201750
HP:0011042	Abnormal blood potassium concentration	54809	SAMD9	OMIM:617053
HP:0011042	Abnormal blood potassium concentration	6261	RYR1	ORPHA:466650
HP:0011042	Abnormal blood potassium concentration	6261	RYR1	ORPHA:423
HP:0011042	Abnormal blood potassium concentration	6261	RYR1	OMIM:145600
HP:0011042	Abnormal blood potassium concentration	10058	ABCB6	ORPHA:90044
HP:0011042	Abnormal blood potassium concentration	10058	ABCB6	OMIM:609153
HP:0011042	Abnormal blood potassium concentration	100134444	KCNJ18	ORPHA:79102
HP:0011042	Abnormal blood potassium concentration	2556	GABRA3	ORPHA:79102
HP:0011042	Abnormal blood potassium concentration	779	CACNA1S	ORPHA:79102
HP:0011042	Abnormal blood potassium concentration	779	CACNA1S	ORPHA:423
HP:0011042	Abnormal blood potassium concentration	23175	LPIN1	OMIM:268200
HP:0011042	Abnormal blood potassium concentration	23175	LPIN1	ORPHA:99845
HP:0011042	Abnormal blood potassium concentration	6340	SCNN1G	ORPHA:171876
HP:0011042	Abnormal blood potassium concentration	6340	SCNN1G	OMIM:620126
HP:0011042	Abnormal blood potassium concentration	6337	SCNN1A	ORPHA:171876
HP:0011042	Abnormal blood potassium concentration	6337	SCNN1A	OMIM:264350
HP:0011042	Abnormal blood potassium concentration	6338	SCNN1B	ORPHA:171876
HP:0011042	Abnormal blood potassium concentration	6338	SCNN1B	OMIM:620125
HP:0011042	Abnormal blood potassium concentration	4306	NR3C2	OMIM:177735
HP:0011042	Abnormal blood potassium concentration	4512	MT-CO1	ORPHA:99845
HP:0011042	Abnormal blood potassium concentration	4514	MT-CO3	ORPHA:99845
HP:0011042	Abnormal blood potassium concentration	6513	SLC2A1	OMIM:608885
HP:0011042	Abnormal blood potassium concentration	3284	HSD3B2	ORPHA:90791
HP:0011042	Abnormal blood potassium concentration	3284	HSD3B2	OMIM:201810
HP:0011042	Abnormal blood potassium concentration	771	CA12	OMIM:143860
HP:0011042	Abnormal blood potassium concentration	9095	TBX19	ORPHA:199296
HP:0011042	Abnormal blood potassium concentration	10463	SLC30A9	OMIM:617595
HP:0011042	Abnormal blood potassium concentration	11232	POLG2	OMIM:618528
HP:0011042	Abnormal blood potassium concentration	1583	CYP11A1	ORPHA:168558
HP:0011042	Abnormal blood potassium concentration	1583	CYP11A1	ORPHA:289548
HP:0011042	Abnormal blood potassium concentration	1585	CYP11B2	OMIM:203400
HP:0011042	Abnormal blood potassium concentration	1585	CYP11B2	OMIM:610600
HP:0011042	Abnormal blood potassium concentration	1585	CYP11B2	ORPHA:556030
HP:0011042	Abnormal blood potassium concentration	6522	SLC4A2	OMIM:620366
HP:0011042	Abnormal blood potassium concentration	226	ALDOA	ORPHA:57
HP:0011042	Abnormal blood potassium concentration	56246	MRAP	ORPHA:361
HP:0011042	Abnormal blood potassium concentration	6770	STAR	ORPHA:361
HP:0011042	Abnormal blood potassium concentration	4158	MC2R	ORPHA:361
HP:0011042	Abnormal blood potassium concentration	23530	NNT	ORPHA:361
HP:0011042	Abnormal blood potassium concentration	23530	NNT	OMIM:614736
HP:0011042	Abnormal blood potassium concentration	10587	TXNRD2	ORPHA:361
HP:0011042	Abnormal blood potassium concentration	65266	WNK4	OMIM:614491
HP:0011042	Abnormal blood potassium concentration	65125	WNK1	OMIM:614492
HP:0011042	Abnormal blood potassium concentration	26249	KLHL3	OMIM:614495
HP:0011042	Abnormal blood potassium concentration	8452	CUL3	OMIM:614496
HP:0011042	Abnormal blood potassium concentration	27130	INVS	OMIM:602088
HP:0011042	Abnormal blood potassium concentration	1497	CTNS	OMIM:219800
HP:0011042	Abnormal blood potassium concentration	1497	CTNS	ORPHA:411629
HP:0011042	Abnormal blood potassium concentration	1497	CTNS	ORPHA:411634
HP:0011042	Abnormal blood potassium concentration	7809	BSND	ORPHA:89938
HP:0011042	Abnormal blood potassium concentration	7809	BSND	OMIM:602522
HP:0011042	Abnormal blood potassium concentration	1188	CLCNKB	ORPHA:89938
HP:0011042	Abnormal blood potassium concentration	1188	CLCNKB	OMIM:613090
HP:0011042	Abnormal blood potassium concentration	1188	CLCNKB	OMIM:607364
HP:0011042	Abnormal blood potassium concentration	1188	CLCNKB	ORPHA:358
HP:0011042	Abnormal blood potassium concentration	1187	CLCNKA	ORPHA:89938
HP:0011042	Abnormal blood potassium concentration	1187	CLCNKA	OMIM:613090
HP:0011042	Abnormal blood potassium concentration	5311	PKD2	OMIM:613095
HP:0011042	Abnormal blood potassium concentration	776	CACNA1D	OMIM:615474
HP:0011042	Abnormal blood potassium concentration	776	CACNA1D	ORPHA:369929
HP:0011042	Abnormal blood potassium concentration	3643	INSR	ORPHA:508
HP:0011042	Abnormal blood potassium concentration	3643	INSR	ORPHA:769
HP:0011042	Abnormal blood potassium concentration	8021	NUP214	OMIM:618426
HP:0011042	Abnormal blood potassium concentration	3291	HSD11B2	OMIM:218030
HP:0011042	Abnormal blood potassium concentration	3291	HSD11B2	ORPHA:320
HP:0011042	Abnormal blood potassium concentration	2908	NR3C1	ORPHA:786
HP:0011042	Abnormal blood potassium concentration	3766	KCNJ10	ORPHA:199343
HP:0011042	Abnormal blood potassium concentration	3766	KCNJ10	OMIM:612780
HP:0011042	Abnormal blood potassium concentration	6514	SLC2A2	OMIM:227810
HP:0011042	Abnormal blood potassium concentration	2628	GATM	OMIM:134600
HP:0011042	Abnormal blood potassium concentration	2628	GATM	ORPHA:3337
HP:0011042	Abnormal blood potassium concentration	1584	CYP11B1	OMIM:202010
HP:0011042	Abnormal blood potassium concentration	1584	CYP11B1	ORPHA:90795
HP:0011042	Abnormal blood potassium concentration	1584	CYP11B1	ORPHA:403
HP:0011042	Abnormal blood potassium concentration	476	ATP1A1	OMIM:618314
HP:0011042	Abnormal blood potassium concentration	1811	SLC26A3	OMIM:214700
HP:0011042	Abnormal blood potassium concentration	866	SERPINA6	OMIM:611489
HP:0011042	Abnormal blood potassium concentration	4952	OCRL	ORPHA:534
HP:0011042	Abnormal blood potassium concentration	1586	CYP17A1	ORPHA:90793
HP:0011042	Abnormal blood potassium concentration	1962	EHHADH	ORPHA:3337
HP:0011042	Abnormal blood potassium concentration	137682	NDUFAF6	ORPHA:3337
HP:0011042	Abnormal blood potassium concentration	6569	SLC34A1	ORPHA:3337
HP:0011042	Abnormal blood potassium concentration	58528	RRAGD	OMIM:620152
HP:0011042	Abnormal blood potassium concentration	801	CALM1	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	3753	KCNE1	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	3762	KCNJ5	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	3762	KCNJ5	OMIM:613677
HP:0011042	Abnormal blood potassium concentration	3762	KCNJ5	ORPHA:251274
HP:0011042	Abnormal blood potassium concentration	805	CALM2	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	6910	TBX5	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	6336	SCN10A	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	3757	KCNH2	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	9992	KCNE2	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	10142	AKAP9	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	9722	NOS1AP	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	775	CACNA1C	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	3784	KCNQ1	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	10345	TRDN	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	6331	SCN5A	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	6330	SCN4B	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	808	CALM3	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	6640	SNTA1	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	859	CAV3	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	287	ANK2	ORPHA:101016
HP:0011042	Abnormal blood potassium concentration	10916	MAGED2	OMIM:300971
HP:0011042	Abnormal blood potassium concentration	8671	SLC4A4	OMIM:604278
HP:0011042	Abnormal blood potassium concentration	486	FXYD2	OMIM:154020
HP:0011042	Abnormal blood potassium concentration	9071	CLDN10	OMIM:617671
HP:0011042	Abnormal blood potassium concentration	55898	UNC45A	OMIM:619377
HP:0011042	Abnormal blood potassium concentration	4089	SMAD4	OMIM:174900
HP:0011042	Abnormal blood potassium concentration	657	BMPR1A	OMIM:174900
HP:0011042	Abnormal blood potassium concentration	50619	DEF6	OMIM:619573
HP:0011042	Abnormal blood potassium concentration	50628	GEMIN4	OMIM:617913
HP:0011042	Abnormal blood potassium concentration	3759	KCNJ2	OMIM:170390
HP:0011042	Abnormal blood potassium concentration	1181	CLCN2	ORPHA:404
HP:0011042	Abnormal blood potassium concentration	1181	CLCN2	OMIM:605635
HP:0011042	Abnormal blood potassium concentration	84133	ZNRF3	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	7157	TP53	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	5573	PRKAR1A	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	1499	CTNNB1	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	1029	CDKN2A	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	7015	TERT	ORPHA:1501
HP:0011042	Abnormal blood potassium concentration	846	CASR	OMIM:601198
HP:0011042	Abnormal blood potassium concentration	50617	ATP6V0A4	OMIM:602722
HP:0011042	Abnormal blood potassium concentration	6557	SLC12A1	OMIM:601678
HP:0011042	Abnormal blood potassium concentration	1281	COL3A1	ORPHA:286
HP:0011042	Abnormal blood potassium concentration	3758	KCNJ1	OMIM:241200
HP:0011042	Abnormal blood potassium concentration	64072	CDH23	ORPHA:91347
HP:0011042	Abnormal blood potassium concentration	6559	SLC12A3	OMIM:263800
HP:0011042	Abnormal blood potassium concentration	6559	SLC12A3	ORPHA:358
HP:0011042	Abnormal blood potassium concentration	9049	AIP	OMIM:219090
HP:0011042	Abnormal blood potassium concentration	9101	USP8	OMIM:219090
HP:0011042	Abnormal blood potassium concentration	6329	SCN4A	ORPHA:684
HP:0011042	Abnormal blood potassium concentration	6521	SLC4A1	ORPHA:3202
HP:0011042	Abnormal blood potassium concentration	9780	PIEZO1	ORPHA:3202
HP:0011042	Abnormal blood potassium concentration	3783	KCNN4	ORPHA:3202
HP:0011042	Abnormal blood potassium concentration	10008	KCNE3	ORPHA:681
HP:0011041	Aplasia/Hypoplasia of the cervical spine	10682	EBP	ORPHA:35173
HP:0011041	Aplasia/Hypoplasia of the cervical spine	1836	SLC26A2	ORPHA:93307
HP:0011041	Aplasia/Hypoplasia of the cervical spine	1836	SLC26A2	ORPHA:56304
HP:0011041	Aplasia/Hypoplasia of the cervical spine	1836	SLC26A2	OMIM:222600
HP:0011041	Aplasia/Hypoplasia of the cervical spine	1836	SLC26A2	ORPHA:628
HP:0011041	Aplasia/Hypoplasia of the cervical spine	59341	TRPV4	ORPHA:2635
HP:0011041	Aplasia/Hypoplasia of the cervical spine	6662	SOX9	OMIM:114290
HP:0011041	Aplasia/Hypoplasia of the cervical spine	347734	SLC35B2	OMIM:620269
HP:0011041	Aplasia/Hypoplasia of the cervical spine	2317	FLNB	OMIM:150250
HP:0011041	Aplasia/Hypoplasia of the cervical spine	415	ARSL	ORPHA:79345
HP:0011041	Aplasia/Hypoplasia of the cervical spine	23126	POGZ	OMIM:616364
HP:0011040	Abnormal intrahepatic bile duct morphology	5828	PEX2	OMIM:614866
HP:0011040	Abnormal intrahepatic bile duct morphology	5830	PEX5	OMIM:214110
HP:0011040	Abnormal intrahepatic bile duct morphology	5189	PEX1	OMIM:214100
HP:0011040	Abnormal intrahepatic bile duct morphology	9076	CLDN1	OMIM:607626
HP:0011040	Abnormal intrahepatic bile duct morphology	56623	INPP5E	ORPHA:1454
HP:0011040	Abnormal intrahepatic bile duct morphology	91147	TMEM67	ORPHA:1454
HP:0011040	Abnormal intrahepatic bile duct morphology	23322	RPGRIP1L	ORPHA:1454
HP:0011040	Abnormal intrahepatic bile duct morphology	57545	CC2D2A	ORPHA:1454
HP:0011040	Abnormal intrahepatic bile duct morphology	26123	TCTN3	OMIM:614815
HP:0011040	Abnormal intrahepatic bile duct morphology	26276	VPS33B	OMIM:208085
HP:0011040	Abnormal intrahepatic bile duct morphology	51473	DCDC2	ORPHA:84081
HP:0011040	Abnormal intrahepatic bile duct morphology	182	JAG1	OMIM:118450
HP:0011040	Abnormal intrahepatic bile duct morphology	55788	LMBRD1	ORPHA:79284
HP:0011040	Abnormal intrahepatic bile duct morphology	5195	PEX14	OMIM:614887
HP:0011040	Abnormal intrahepatic bile duct morphology	4000	LMNA	ORPHA:363618
HP:0011040	Abnormal intrahepatic bile duct morphology	3594	IL12RB1	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	23534	TNPO3	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	3592	IL12A	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	6689	SPIB	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	5450	POU2AF1	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	9966	TNFSF15	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	79258	MMEL1	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	3663	IRF5	ORPHA:186
HP:0011040	Abnormal intrahepatic bile duct morphology	199221	DZIP1L	ORPHA:731
HP:0011040	Abnormal intrahepatic bile duct morphology	5314	PKHD1	ORPHA:731
HP:0011040	Abnormal intrahepatic bile duct morphology	6718	AKR1D1	ORPHA:79303
HP:0011040	Abnormal intrahepatic bile duct morphology	9968	MED12	OMIM:301068
HP:0011040	Abnormal intrahepatic bile duct morphology	57728	WDR19	OMIM:614377
HP:0011040	Abnormal intrahepatic bile duct morphology	57728	WDR19	OMIM:616307
HP:0011040	Abnormal intrahepatic bile duct morphology	9371	KIF3B	OMIM:618955
HP:0011040	Abnormal intrahepatic bile duct morphology	79989	IFT56	OMIM:619534
HP:0011040	Abnormal intrahepatic bile duct morphology	84936	ZFYVE19	OMIM:619849
HP:0011044	Abnormal number of permanent teeth	9401	RECQL4	OMIM:268400
HP:0011044	Abnormal number of permanent teeth	284252	KCTD1	OMIM:181270
HP:0011044	Abnormal number of permanent teeth	57539	WDR35	OMIM:614091
HP:0011044	Abnormal number of permanent teeth	197131	UBR1	OMIM:243800
HP:0011044	Abnormal number of permanent teeth	716	C1S	ORPHA:75392
HP:0011044	Abnormal number of permanent teeth	715	C1R	ORPHA:75392
HP:0011044	Abnormal number of permanent teeth	1387	CREBBP	OMIM:618332
HP:0011044	Abnormal number of permanent teeth	2033	EP300	OMIM:618333
HP:0011044	Abnormal number of permanent teeth	51715	RAB23	OMIM:201000
HP:0011044	Abnormal number of permanent teeth	1857	DVL3	OMIM:616894
HP:0011044	Abnormal number of permanent teeth	5888	RAD51	OMIM:617244
HP:0011044	Abnormal number of permanent teeth	80326	WNT10A	OMIM:150400
HP:0011044	Abnormal number of permanent teeth	80326	WNT10A	OMIM:257980
HP:0011044	Abnormal number of permanent teeth	54101	RIPK4	ORPHA:1401
HP:0011044	Abnormal number of permanent teeth	23314	SATB2	ORPHA:251028
HP:0011044	Abnormal number of permanent teeth	8481	OFD1	OMIM:311200
HP:0011044	Abnormal number of permanent teeth	23184	MESD	OMIM:618644
HP:0011044	Abnormal number of permanent teeth	2783	GNB2	OMIM:619503
HP:0011044	Abnormal number of permanent teeth	4040	LRP6	OMIM:616724
HP:0011044	Abnormal number of permanent teeth	4487	MSX1	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	5818	NECTIN1	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	1739	DLG1	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	652	BMP4	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	8626	TP63	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	999	CDH1	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	5156	PDGFRA	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	3664	IRF6	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	9411	ARHGAP29	ORPHA:199306
HP:0011044	Abnormal number of permanent teeth	1748	DLX4	ORPHA:199306
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2736	GLI2	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	89884	LHX4	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	89884	LHX4	ORPHA:226307
HP:0011043	Abnormal circulating adrenocorticotropin concentration	3170	FOXA2	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5449	POU1F1	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5449	POU1F1	ORPHA:226307
HP:0011043	Abnormal circulating adrenocorticotropin concentration	8820	HESX1	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	8820	HESX1	ORPHA:226307
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5015	OTX2	ORPHA:95494
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5015	OTX2	OMIM:613986
HP:0011043	Abnormal circulating adrenocorticotropin concentration	4791	NFKB2	ORPHA:293978
HP:0011043	Abnormal circulating adrenocorticotropin concentration	8022	LHX3	ORPHA:226307
HP:0011043	Abnormal circulating adrenocorticotropin concentration	4221	MEN1	ORPHA:2965
HP:0011043	Abnormal circulating adrenocorticotropin concentration	79798	ARMC5	ORPHA:189427
HP:0011043	Abnormal circulating adrenocorticotropin concentration	79798	ARMC5	OMIM:615954
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2778	GNAS	ORPHA:189427
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2778	GNAS	OMIM:219080
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5566	PRKACA	ORPHA:189439
HP:0011043	Abnormal circulating adrenocorticotropin concentration	8622	PDE8B	ORPHA:189439
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5573	PRKAR1A	ORPHA:189439
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5573	PRKAR1A	OMIM:610489
HP:0011043	Abnormal circulating adrenocorticotropin concentration	50940	PDE11A	ORPHA:189439
HP:0011043	Abnormal circulating adrenocorticotropin concentration	50940	PDE11A	OMIM:610475
HP:0011043	Abnormal circulating adrenocorticotropin concentration	8314	BAP1	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	4771	NF2	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	6598	SMARCB1	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5155	PDGFB	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	84231	TRAF7	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	6608	SMO	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	207	AKT1	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5290	PIK3CA	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	7015	TERT	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	51684	SUFU	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	6605	SMARCE1	ORPHA:2495
HP:0011043	Abnormal circulating adrenocorticotropin concentration	6658	SOX3	ORPHA:90695
HP:0011043	Abnormal circulating adrenocorticotropin concentration	84196	USP48	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	7157	TP53	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	9101	USP8	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	9101	USP8	OMIM:219090
HP:0011043	Abnormal circulating adrenocorticotropin concentration	64072	CDH23	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2908	NR3C1	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2908	NR3C1	ORPHA:786
HP:0011043	Abnormal circulating adrenocorticotropin concentration	2908	NR3C1	OMIM:615962
HP:0011043	Abnormal circulating adrenocorticotropin concentration	673	BRAF	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	546	ATRX	ORPHA:96253
HP:0011043	Abnormal circulating adrenocorticotropin concentration	546	ATRX	ORPHA:100075
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5447	POR	OMIM:201750
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5447	POR	OMIM:613571
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5447	POR	ORPHA:95699
HP:0011043	Abnormal circulating adrenocorticotropin concentration	4158	MC2R	OMIM:202200
HP:0011043	Abnormal circulating adrenocorticotropin concentration	1583	CYP11A1	ORPHA:168558
HP:0011043	Abnormal circulating adrenocorticotropin concentration	1583	CYP11A1	ORPHA:289548
HP:0011043	Abnormal circulating adrenocorticotropin concentration	1616	DAXX	ORPHA:100075
HP:0011043	Abnormal circulating adrenocorticotropin concentration	9049	AIP	OMIM:219090
HP:0011043	Abnormal circulating adrenocorticotropin concentration	56246	MRAP	OMIM:607398
HP:0011043	Abnormal circulating adrenocorticotropin concentration	23530	NNT	OMIM:614736
HP:0011043	Abnormal circulating adrenocorticotropin concentration	1584	CYP11B1	ORPHA:90795
HP:0011043	Abnormal circulating adrenocorticotropin concentration	6770	STAR	ORPHA:361
HP:0011043	Abnormal circulating adrenocorticotropin concentration	10587	TXNRD2	ORPHA:361
HP:0011043	Abnormal circulating adrenocorticotropin concentration	5626	PROP1	OMIM:262600
HP:0031464	Genital blistering	1308	COL17A1	ORPHA:79406
HP:0031464	Genital blistering	4312	MMP1	ORPHA:79408
HP:0031464	Genital blistering	1294	COL7A1	ORPHA:79408
HP:0031464	Genital blistering	1294	COL7A1	ORPHA:79409
HP:0031464	Genital blistering	1294	COL7A1	ORPHA:79410
HP:0031464	Genital blistering	1294	COL7A1	ORPHA:79411
HP:0031464	Genital blistering	3861	KRT14	ORPHA:89838
HP:0031466	Impairment in personality functioning	8518	ELP1	OMIM:223900
HP:0031466	Impairment in personality functioning	8450	CUL4B	OMIM:300354
HP:0031466	Impairment in personality functioning	55630	SLC39A4	ORPHA:37
HP:0031466	Impairment in personality functioning	55630	SLC39A4	OMIM:201100
HP:0031466	Impairment in personality functioning	23043	TNIK	OMIM:617028
HP:0031466	Impairment in personality functioning	1644	DDC	OMIM:608643
HP:0031466	Impairment in personality functioning	1757	SARDH	ORPHA:3129
HP:0031466	Impairment in personality functioning	10381	TUBB3	ORPHA:300570
HP:0031466	Impairment in personality functioning	3953	LEPR	OMIM:614963
HP:0031466	Impairment in personality functioning	3953	LEPR	ORPHA:179494
HP:0031466	Impairment in personality functioning	10015	PDCD6IP	OMIM:620047
HP:0031466	Impairment in personality functioning	55149	MTPAP	ORPHA:254343
HP:0031466	Impairment in personality functioning	55149	MTPAP	OMIM:613672
HP:0031466	Impairment in personality functioning	80208	SPG11	ORPHA:2822
HP:0031466	Impairment in personality functioning	4914	NTRK1	OMIM:256800
HP:0031466	Impairment in personality functioning	2512	FTL	OMIM:606159
HP:0031466	Impairment in personality functioning	2512	FTL	ORPHA:157846
HP:0031466	Impairment in personality functioning	7809	BSND	ORPHA:89938
HP:0031466	Impairment in personality functioning	1188	CLCNKB	ORPHA:89938
HP:0031466	Impairment in personality functioning	1187	CLCNKA	ORPHA:89938
HP:0031466	Impairment in personality functioning	388662	SLC6A17	ORPHA:457212
HP:0031466	Impairment in personality functioning	388662	SLC6A17	OMIM:616269
HP:0031466	Impairment in personality functioning	9968	MED12	OMIM:309520
HP:0031466	Impairment in personality functioning	8314	BAP1	ORPHA:2495
HP:0031466	Impairment in personality functioning	4771	NF2	ORPHA:2495
HP:0031466	Impairment in personality functioning	6598	SMARCB1	ORPHA:2495
HP:0031466	Impairment in personality functioning	84231	TRAF7	ORPHA:2495
HP:0031466	Impairment in personality functioning	6608	SMO	ORPHA:2495
HP:0031466	Impairment in personality functioning	207	AKT1	ORPHA:2495
HP:0031466	Impairment in personality functioning	51684	SUFU	ORPHA:2495
HP:0031466	Impairment in personality functioning	6605	SMARCE1	ORPHA:2495
HP:0031466	Impairment in personality functioning	6507	SLC1A3	ORPHA:2131
HP:0031466	Impairment in personality functioning	477	ATP1A2	ORPHA:2131
HP:0031466	Impairment in personality functioning	23503	ZFYVE26	OMIM:270700
HP:0031466	Impairment in personality functioning	81887	LAS1L	ORPHA:3459
HP:0031466	Impairment in personality functioning	81887	LAS1L	OMIM:309585
HP:0031466	Impairment in personality functioning	9993	DGCR2	OMIM:192430
HP:0031466	Impairment in personality functioning	8220	ESS2	OMIM:192430
HP:0031466	Impairment in personality functioning	8214	DGCR6	OMIM:192430
HP:0031466	Impairment in personality functioning	54487	DGCR8	OMIM:192430
HP:0031466	Impairment in personality functioning	91942	NDUFAF2	ORPHA:255241
HP:0031466	Impairment in personality functioning	6834	SURF1	ORPHA:255241
HP:0031466	Impairment in personality functioning	4723	NDUFV1	ORPHA:255241
HP:0031466	Impairment in personality functioning	55572	FOXRED1	ORPHA:255241
HP:0031466	Impairment in personality functioning	4729	NDUFV2	ORPHA:255241
HP:0031466	Impairment in personality functioning	55967	NDUFA12	ORPHA:255241
HP:0031466	Impairment in personality functioning	51204	TACO1	ORPHA:255241
HP:0031466	Impairment in personality functioning	4720	NDUFS2	ORPHA:255241
HP:0031466	Impairment in personality functioning	4724	NDUFS4	ORPHA:255241
HP:0031466	Impairment in personality functioning	4728	NDUFS8	ORPHA:255241
HP:0031466	Impairment in personality functioning	137682	NDUFAF6	ORPHA:255241
HP:0031466	Impairment in personality functioning	4722	NDUFS3	ORPHA:255241
HP:0031466	Impairment in personality functioning	79133	NDUFAF5	ORPHA:255241
HP:0031466	Impairment in personality functioning	5160	PDHA1	ORPHA:255241
HP:0031466	Impairment in personality functioning	100131801	PET100	ORPHA:255241
HP:0031466	Impairment in personality functioning	1355	COX15	ORPHA:255241
HP:0031466	Impairment in personality functioning	1892	ECHS1	ORPHA:255241
HP:0031466	Impairment in personality functioning	123263	MTFMT	ORPHA:255241
HP:0031466	Impairment in personality functioning	51079	NDUFA13	ORPHA:255241
HP:0031466	Impairment in personality functioning	374291	NDUFS7	ORPHA:255241
HP:0031466	Impairment in personality functioning	4705	NDUFA10	ORPHA:255241
HP:0031466	Impairment in personality functioning	51601	LIPT1	ORPHA:255241
HP:0031466	Impairment in personality functioning	4719	NDUFS1	ORPHA:255241
HP:0031466	Impairment in personality functioning	4695	NDUFA2	ORPHA:255241
HP:0031466	Impairment in personality functioning	4697	NDUFA4	ORPHA:255241
HP:0031466	Impairment in personality functioning	4704	NDUFA9	ORPHA:255241
HP:0031466	Impairment in personality functioning	23162	MAPK8IP3	OMIM:618443
HP:0031466	Impairment in personality functioning	5230	PGK1	OMIM:300653
HP:0031466	Impairment in personality functioning	727676	SNORD118	ORPHA:542310
HP:0031466	Impairment in personality functioning	1967	EIF2B1	OMIM:603896
HP:0031466	Impairment in personality functioning	2583	B4GALNT1	OMIM:609195
HP:0031466	Impairment in personality functioning	165918	RNF168	ORPHA:420741
HP:0031466	Impairment in personality functioning	26191	PTPN22	ORPHA:397
HP:0031466	Impairment in personality functioning	3106	HLA-B	ORPHA:397
HP:0031466	Impairment in personality functioning	3123	HLA-DRB1	ORPHA:397
HP:0031466	Impairment in personality functioning	3123	HLA-DRB1	OMIM:126200
HP:0031466	Impairment in personality functioning	8974	P4HA2	ORPHA:397
HP:0031466	Impairment in personality functioning	5621	PRNP	ORPHA:282166
HP:0031466	Impairment in personality functioning	5621	PRNP	OMIM:603218
HP:0031466	Impairment in personality functioning	5621	PRNP	ORPHA:157941
HP:0031466	Impairment in personality functioning	5621	PRNP	ORPHA:280397
HP:0031466	Impairment in personality functioning	5621	PRNP	OMIM:123400
HP:0031466	Impairment in personality functioning	5621	PRNP	OMIM:137440
HP:0031466	Impairment in personality functioning	3064	HTT	ORPHA:399
HP:0031466	Impairment in personality functioning	3064	HTT	ORPHA:248111
HP:0031466	Impairment in personality functioning	3064	HTT	OMIM:143100
HP:0031466	Impairment in personality functioning	6515	SLC2A3	ORPHA:399
HP:0031466	Impairment in personality functioning	7384	UQCRC1	OMIM:619279
HP:0031466	Impairment in personality functioning	51256	TBC1D7	OMIM:248000
HP:0031466	Impairment in personality functioning	1183	CLCN4	OMIM:300114
HP:0031466	Impairment in personality functioning	1183	CLCN4	ORPHA:485350
HP:0031466	Impairment in personality functioning	1786	DNMT1	ORPHA:314404
HP:0031466	Impairment in personality functioning	1786	DNMT1	OMIM:604121
HP:0031466	Impairment in personality functioning	2521	FUS	ORPHA:275872
HP:0031466	Impairment in personality functioning	2521	FUS	ORPHA:803
HP:0031466	Impairment in personality functioning	23435	TARDBP	ORPHA:275872
HP:0031466	Impairment in personality functioning	23435	TARDBP	ORPHA:803
HP:0031466	Impairment in personality functioning	29110	TBK1	ORPHA:275872
HP:0031466	Impairment in personality functioning	29110	TBK1	ORPHA:803
HP:0031466	Impairment in personality functioning	400916	CHCHD10	ORPHA:275872
HP:0031466	Impairment in personality functioning	400916	CHCHD10	ORPHA:803
HP:0031466	Impairment in personality functioning	478	ATP1A3	OMIM:128235
HP:0031466	Impairment in personality functioning	478	ATP1A3	ORPHA:71517
HP:0031466	Impairment in personality functioning	5521	PPP2R2B	OMIM:604326
HP:0031466	Impairment in personality functioning	4072	EPCAM	ORPHA:144
HP:0031466	Impairment in personality functioning	4292	MLH1	ORPHA:144
HP:0031466	Impairment in personality functioning	5395	PMS2	ORPHA:144
HP:0031466	Impairment in personality functioning	27030	MLH3	ORPHA:144
HP:0031466	Impairment in personality functioning	22909	FAN1	ORPHA:144
HP:0031466	Impairment in personality functioning	7048	TGFBR2	ORPHA:144
HP:0031466	Impairment in personality functioning	3845	KRAS	ORPHA:144
HP:0031466	Impairment in personality functioning	5290	PIK3CA	ORPHA:144
HP:0031466	Impairment in personality functioning	2956	MSH6	ORPHA:144
HP:0031466	Impairment in personality functioning	5378	PMS1	ORPHA:144
HP:0031466	Impairment in personality functioning	4436	MSH2	ORPHA:144
HP:0031466	Impairment in personality functioning	4125	MAN2B1	ORPHA:309282
HP:0031466	Impairment in personality functioning	4125	MAN2B1	ORPHA:309288
HP:0031466	Impairment in personality functioning	4312	MMP1	ORPHA:79408
HP:0031466	Impairment in personality functioning	1294	COL7A1	ORPHA:79408
HP:0031466	Impairment in personality functioning	1294	COL7A1	ORPHA:89842
HP:0031466	Impairment in personality functioning	387119	CEP85L	OMIM:618873
HP:0031466	Impairment in personality functioning	613	BCR	ORPHA:261330
HP:0031466	Impairment in personality functioning	1399	CRKL	ORPHA:261330
HP:0031466	Impairment in personality functioning	5594	MAPK1	ORPHA:261330
HP:0031466	Impairment in personality functioning	5155	PDGFB	OMIM:615483
HP:0031466	Impairment in personality functioning	5155	PDGFB	OMIM:213600
HP:0031466	Impairment in personality functioning	8722	CTSF	OMIM:615362
HP:0031466	Impairment in personality functioning	57582	KCNT1	OMIM:615005
HP:0031466	Impairment in personality functioning	57582	KCNT1	ORPHA:98784
HP:0031466	Impairment in personality functioning	64218	SEMA4A	ORPHA:440437
HP:0031466	Impairment in personality functioning	657	BMPR1A	ORPHA:440437
HP:0031466	Impairment in personality functioning	6224	RPS20	ORPHA:440437
HP:0031466	Impairment in personality functioning	54982	CLN6	OMIM:204300
HP:0031466	Impairment in personality functioning	50940	PDE11A	OMIM:610475
HP:0031466	Impairment in personality functioning	50940	PDE11A	ORPHA:189439
HP:0031466	Impairment in personality functioning	23600	AMACR	ORPHA:79095
HP:0031466	Impairment in personality functioning	23600	AMACR	OMIM:614307
HP:0031466	Impairment in personality functioning	1763	DNA2	ORPHA:352470
HP:0031466	Impairment in personality functioning	1763	DNA2	OMIM:615156
HP:0031466	Impairment in personality functioning	5159	PDGFRB	OMIM:615007
HP:0031466	Impairment in personality functioning	5159	PDGFRB	OMIM:213600
HP:0031466	Impairment in personality functioning	5159	PDGFRB	OMIM:616592
HP:0031466	Impairment in personality functioning	23400	ATP13A2	ORPHA:314632
HP:0031466	Impairment in personality functioning	7252	TSHB	ORPHA:90674
HP:0031466	Impairment in personality functioning	410	ARSA	ORPHA:309271
HP:0031466	Impairment in personality functioning	2859	GPR35	ORPHA:171
HP:0031466	Impairment in personality functioning	10507	SEMA4D	ORPHA:171
HP:0031466	Impairment in personality functioning	4485	MST1	ORPHA:171
HP:0031466	Impairment in personality functioning	6925	TCF4	ORPHA:171
HP:0031466	Impairment in personality functioning	55154	MSTO1	OMIM:617675
HP:0031466	Impairment in personality functioning	55154	MSTO1	ORPHA:502423
HP:0031466	Impairment in personality functioning	50484	RRM2B	OMIM:613077
HP:0031466	Impairment in personality functioning	50484	RRM2B	ORPHA:254892
HP:0031466	Impairment in personality functioning	1716	DGUOK	ORPHA:329314
HP:0031466	Impairment in personality functioning	10352	WARS2	OMIM:619738
HP:0031466	Impairment in personality functioning	6575	SLC20A2	OMIM:213600
HP:0031466	Impairment in personality functioning	3117	HLA-DQA1	OMIM:212750
HP:0031466	Impairment in personality functioning	3119	HLA-DQB1	OMIM:212750
HP:0031466	Impairment in personality functioning	3119	HLA-DQB1	OMIM:123400
HP:0031466	Impairment in personality functioning	3119	HLA-DQB1	OMIM:126200
HP:0031466	Impairment in personality functioning	83550	GPR101	ORPHA:963
HP:0031466	Impairment in personality functioning	2332	FMR1	ORPHA:93256
HP:0031466	Impairment in personality functioning	2332	FMR1	ORPHA:449291
HP:0031466	Impairment in personality functioning	2332	FMR1	OMIM:300623
HP:0031466	Impairment in personality functioning	10273	STUB1	OMIM:618093
HP:0031466	Impairment in personality functioning	1175	AP2S1	OMIM:600740
HP:0031466	Impairment in personality functioning	79152	FA2H	ORPHA:329308
HP:0031466	Impairment in personality functioning	83636	C19orf12	OMIM:614298
HP:0031466	Impairment in personality functioning	833	CARS1	OMIM:618891
HP:0031466	Impairment in personality functioning	7466	WFS1	OMIM:614296
HP:0031466	Impairment in personality functioning	7466	WFS1	ORPHA:411590
HP:0031466	Impairment in personality functioning	10347	ABCA7	OMIM:608907
HP:0031466	Impairment in personality functioning	28514	DLL1	ORPHA:93926
HP:0031466	Impairment in personality functioning	28514	DLL1	ORPHA:93924
HP:0031466	Impairment in personality functioning	28514	DLL1	ORPHA:93925
HP:0031466	Impairment in personality functioning	28514	DLL1	ORPHA:220386
HP:0031466	Impairment in personality functioning	2253	FGF8	ORPHA:93926
HP:0031466	Impairment in personality functioning	2253	FGF8	ORPHA:93924
HP:0031466	Impairment in personality functioning	2253	FGF8	ORPHA:93925
HP:0031466	Impairment in personality functioning	2253	FGF8	ORPHA:432
HP:0031466	Impairment in personality functioning	2253	FGF8	ORPHA:220386
HP:0031466	Impairment in personality functioning	6496	SIX3	ORPHA:93926
HP:0031466	Impairment in personality functioning	6496	SIX3	ORPHA:93924
HP:0031466	Impairment in personality functioning	6496	SIX3	ORPHA:93925
HP:0031466	Impairment in personality functioning	6496	SIX3	ORPHA:220386
HP:0031466	Impairment in personality functioning	7050	TGIF1	ORPHA:93926
HP:0031466	Impairment in personality functioning	7050	TGIF1	ORPHA:93924
HP:0031466	Impairment in personality functioning	7050	TGIF1	ORPHA:93925
HP:0031466	Impairment in personality functioning	7050	TGIF1	ORPHA:220386
HP:0031466	Impairment in personality functioning	4838	NODAL	ORPHA:93926
HP:0031466	Impairment in personality functioning	4838	NODAL	ORPHA:93924
HP:0031466	Impairment in personality functioning	4838	NODAL	ORPHA:93925
HP:0031466	Impairment in personality functioning	4838	NODAL	ORPHA:220386
HP:0031466	Impairment in personality functioning	6469	SHH	ORPHA:93926
HP:0031466	Impairment in personality functioning	6469	SHH	ORPHA:93924
HP:0031466	Impairment in personality functioning	6469	SHH	ORPHA:93925
HP:0031466	Impairment in personality functioning	6469	SHH	ORPHA:220386
HP:0031466	Impairment in personality functioning	7546	ZIC2	ORPHA:93926
HP:0031466	Impairment in personality functioning	7546	ZIC2	ORPHA:93924
HP:0031466	Impairment in personality functioning	7546	ZIC2	ORPHA:93925
HP:0031466	Impairment in personality functioning	7546	ZIC2	ORPHA:220386
HP:0031466	Impairment in personality functioning	6491	STIL	ORPHA:93926
HP:0031466	Impairment in personality functioning	6491	STIL	ORPHA:93924
HP:0031466	Impairment in personality functioning	6491	STIL	ORPHA:93925
HP:0031466	Impairment in personality functioning	6491	STIL	ORPHA:220386
HP:0031466	Impairment in personality functioning	2619	GAS1	ORPHA:93926
HP:0031466	Impairment in personality functioning	2619	GAS1	ORPHA:93924
HP:0031466	Impairment in personality functioning	2619	GAS1	ORPHA:93925
HP:0031466	Impairment in personality functioning	2619	GAS1	ORPHA:220386
HP:0031466	Impairment in personality functioning	84976	DISP1	ORPHA:93926
HP:0031466	Impairment in personality functioning	84976	DISP1	ORPHA:93924
HP:0031466	Impairment in personality functioning	84976	DISP1	ORPHA:93925
HP:0031466	Impairment in personality functioning	84976	DISP1	ORPHA:220386
HP:0031466	Impairment in personality functioning	2736	GLI2	ORPHA:93926
HP:0031466	Impairment in personality functioning	2736	GLI2	ORPHA:93924
HP:0031466	Impairment in personality functioning	2736	GLI2	ORPHA:93925
HP:0031466	Impairment in personality functioning	2736	GLI2	ORPHA:220386
HP:0031466	Impairment in personality functioning	8928	FOXH1	ORPHA:93926
HP:0031466	Impairment in personality functioning	8928	FOXH1	ORPHA:93924
HP:0031466	Impairment in personality functioning	8928	FOXH1	ORPHA:93925
HP:0031466	Impairment in personality functioning	8928	FOXH1	ORPHA:220386
HP:0031466	Impairment in personality functioning	5727	PTCH1	ORPHA:93926
HP:0031466	Impairment in personality functioning	5727	PTCH1	ORPHA:93924
HP:0031466	Impairment in personality functioning	5727	PTCH1	ORPHA:93925
HP:0031466	Impairment in personality functioning	5727	PTCH1	ORPHA:220386
HP:0031466	Impairment in personality functioning	50937	CDON	ORPHA:93926
HP:0031466	Impairment in personality functioning	50937	CDON	ORPHA:93924
HP:0031466	Impairment in personality functioning	50937	CDON	ORPHA:93925
HP:0031466	Impairment in personality functioning	50937	CDON	ORPHA:220386
HP:0031466	Impairment in personality functioning	2260	FGFR1	ORPHA:93924
HP:0031466	Impairment in personality functioning	2260	FGFR1	ORPHA:432
HP:0031466	Impairment in personality functioning	2260	FGFR1	ORPHA:220386
HP:0031466	Impairment in personality functioning	23007	PLCH1	ORPHA:93925
HP:0031466	Impairment in personality functioning	10735	STAG2	ORPHA:93925
HP:0031466	Impairment in personality functioning	10735	STAG2	ORPHA:220386
HP:0031466	Impairment in personality functioning	2903	GRIN2A	ORPHA:98818
HP:0031466	Impairment in personality functioning	2903	GRIN2A	ORPHA:1945
HP:0031466	Impairment in personality functioning	27235	COQ2	ORPHA:98933
HP:0031466	Impairment in personality functioning	27235	COQ2	ORPHA:227510
HP:0031466	Impairment in personality functioning	6197	RPS6KA3	ORPHA:276630
HP:0031466	Impairment in personality functioning	6908	TBP	OMIM:607136
HP:0031466	Impairment in personality functioning	6908	TBP	OMIM:168600
HP:0031466	Impairment in personality functioning	2629	GBA1	OMIM:231000
HP:0031466	Impairment in personality functioning	2629	GBA1	ORPHA:411602
HP:0031466	Impairment in personality functioning	2629	GBA1	OMIM:168600
HP:0031466	Impairment in personality functioning	8398	PLA2G6	ORPHA:199351
HP:0031466	Impairment in personality functioning	8398	PLA2G6	OMIM:612953
HP:0031466	Impairment in personality functioning	84138	SLC7A6OS	OMIM:619191
HP:0031466	Impairment in personality functioning	2324	FLT4	OMIM:618780
HP:0031466	Impairment in personality functioning	5566	PRKACA	OMIM:615830
HP:0031466	Impairment in personality functioning	5566	PRKACA	ORPHA:189439
HP:0031466	Impairment in personality functioning	1593	CYP27A1	ORPHA:909
HP:0031466	Impairment in personality functioning	54902	TTC19	OMIM:615157
HP:0031466	Impairment in personality functioning	8622	PDE8B	ORPHA:189439
HP:0031466	Impairment in personality functioning	6804	STX1A	ORPHA:904
HP:0031466	Impairment in personality functioning	6804	STX1A	ORPHA:586
HP:0031466	Impairment in personality functioning	7461	CLIP2	ORPHA:904
HP:0031466	Impairment in personality functioning	84277	DNAJC30	ORPHA:904
HP:0031466	Impairment in personality functioning	8468	FKBP6	ORPHA:904
HP:0031466	Impairment in personality functioning	5982	RFC2	ORPHA:904
HP:0031466	Impairment in personality functioning	2969	GTF2I	ORPHA:904
HP:0031466	Impairment in personality functioning	3984	LIMK1	ORPHA:904
HP:0031466	Impairment in personality functioning	9569	GTF2IRD1	ORPHA:904
HP:0031466	Impairment in personality functioning	155382	VPS37D	ORPHA:904
HP:0031466	Impairment in personality functioning	155368	METTL27	ORPHA:904
HP:0031466	Impairment in personality functioning	114049	BUD23	ORPHA:904
HP:0031466	Impairment in personality functioning	7458	EIF4H	ORPHA:904
HP:0031466	Impairment in personality functioning	84163	GTF2IRD2	ORPHA:904
HP:0031466	Impairment in personality functioning	9275	BCL7B	ORPHA:904
HP:0031466	Impairment in personality functioning	26608	TBL2	ORPHA:904
HP:0031466	Impairment in personality functioning	653361	NCF1	ORPHA:904
HP:0031466	Impairment in personality functioning	135886	TMEM270	ORPHA:904
HP:0031466	Impairment in personality functioning	51085	MLXIPL	ORPHA:904
HP:0031466	Impairment in personality functioning	9031	BAZ1B	ORPHA:904
HP:0031466	Impairment in personality functioning	2006	ELN	ORPHA:904
HP:0031466	Impairment in personality functioning	79798	ARMC5	OMIM:615954
HP:0031466	Impairment in personality functioning	79798	ARMC5	ORPHA:189427
HP:0031466	Impairment in personality functioning	8659	ALDH4A1	ORPHA:79101
HP:0031466	Impairment in personality functioning	2259	FGF14	ORPHA:98764
HP:0031466	Impairment in personality functioning	2259	FGF14	OMIM:193003
HP:0031466	Impairment in personality functioning	80025	PANK2	OMIM:234200
HP:0031466	Impairment in personality functioning	80025	PANK2	ORPHA:216873
HP:0031466	Impairment in personality functioning	724066	ATXN8	ORPHA:98760
HP:0031466	Impairment in personality functioning	6315	ATXN8OS	ORPHA:98760
HP:0031466	Impairment in personality functioning	6315	ATXN8OS	OMIM:168600
HP:0031466	Impairment in personality functioning	25814	ATXN10	ORPHA:98761
HP:0031466	Impairment in personality functioning	25814	ATXN10	OMIM:603516
HP:0031466	Impairment in personality functioning	2947	GSTM3	ORPHA:586
HP:0031466	Impairment in personality functioning	7040	TGFB1	ORPHA:586
HP:0031466	Impairment in personality functioning	2729	GCLC	ORPHA:586
HP:0031466	Impairment in personality functioning	1084	CEACAM3	ORPHA:586
HP:0031466	Impairment in personality functioning	6556	SLC11A1	ORPHA:586
HP:0031466	Impairment in personality functioning	51164	DCTN4	ORPHA:586
HP:0031466	Impairment in personality functioning	3783	KCNN4	ORPHA:586
HP:0031466	Impairment in personality functioning	4282	MIF	ORPHA:586
HP:0031466	Impairment in personality functioning	1909	EDNRA	ORPHA:586
HP:0031466	Impairment in personality functioning	6550	SLC9A3	ORPHA:586
HP:0031466	Impairment in personality functioning	3162	HMOX1	ORPHA:586
HP:0031466	Impairment in personality functioning	115019	SLC26A9	ORPHA:586
HP:0031466	Impairment in personality functioning	3077	HFE	ORPHA:586
HP:0031466	Impairment in personality functioning	11254	SLC6A14	ORPHA:586
HP:0031466	Impairment in personality functioning	5265	SERPINA1	ORPHA:586
HP:0031466	Impairment in personality functioning	1080	CFTR	ORPHA:586
HP:0031466	Impairment in personality functioning	22802	CLCA4	ORPHA:586
HP:0031466	Impairment in personality functioning	4680	CEACAM6	ORPHA:586
HP:0031466	Impairment in personality functioning	2934	GSN	ORPHA:85448
HP:0031466	Impairment in personality functioning	5205	ATP8B1	ORPHA:69665
HP:0031466	Impairment in personality functioning	8647	ABCB11	ORPHA:69665
HP:0031466	Impairment in personality functioning	5244	ABCB4	ORPHA:69665
HP:0031466	Impairment in personality functioning	9971	NR1H4	ORPHA:69665
HP:0031466	Impairment in personality functioning	2778	GNAS	ORPHA:189427
HP:0031466	Impairment in personality functioning	2778	GNAS	ORPHA:79443
HP:0031466	Impairment in personality functioning	2778	GNAS	ORPHA:79444
HP:0031466	Impairment in personality functioning	2778	GNAS	OMIM:219080
HP:0031466	Impairment in personality functioning	2778	GNAS	ORPHA:94089
HP:0031466	Impairment in personality functioning	200424	TET3	OMIM:618798
HP:0031466	Impairment in personality functioning	3662	IRF4	ORPHA:3452
HP:0031466	Impairment in personality functioning	4854	NOTCH3	ORPHA:136
HP:0031466	Impairment in personality functioning	1436	CSF1R	OMIM:221820
HP:0031466	Impairment in personality functioning	5354	PLP1	OMIM:312080
HP:0031466	Impairment in personality functioning	3458	IFNG	ORPHA:805
HP:0031466	Impairment in personality functioning	7248	TSC1	ORPHA:805
HP:0031466	Impairment in personality functioning	7249	TSC2	ORPHA:805
HP:0031466	Impairment in personality functioning	6683	SPAST	OMIM:182601
HP:0031466	Impairment in personality functioning	3178	HNRNPA1	ORPHA:803
HP:0031466	Impairment in personality functioning	8148	TAF15	ORPHA:803
HP:0031466	Impairment in personality functioning	5445	PON2	ORPHA:803
HP:0031466	Impairment in personality functioning	9217	VAPB	ORPHA:803
HP:0031466	Impairment in personality functioning	5630	PRPH	ORPHA:803
HP:0031466	Impairment in personality functioning	55830	GLT8D1	ORPHA:803
HP:0031466	Impairment in personality functioning	755	CFAP410	ORPHA:803
HP:0031466	Impairment in personality functioning	10891	PPARGC1A	ORPHA:803
HP:0031466	Impairment in personality functioning	6647	SOD1	ORPHA:803
HP:0031466	Impairment in personality functioning	10133	OPTN	ORPHA:803
HP:0031466	Impairment in personality functioning	5444	PON1	ORPHA:803
HP:0031466	Impairment in personality functioning	5446	PON3	ORPHA:803
HP:0031466	Impairment in personality functioning	4744	NEFH	ORPHA:803
HP:0031466	Impairment in personality functioning	5216	PFN1	ORPHA:803
HP:0031466	Impairment in personality functioning	9782	MATR3	ORPHA:803
HP:0031466	Impairment in personality functioning	283	ANG	ORPHA:803
HP:0031466	Impairment in personality functioning	29978	UBQLN2	ORPHA:803
HP:0031466	Impairment in personality functioning	2733	GLE1	ORPHA:803
HP:0031466	Impairment in personality functioning	4750	NEK1	ORPHA:803
HP:0031466	Impairment in personality functioning	2043	EPHA4	ORPHA:803
HP:0031466	Impairment in personality functioning	6311	ATXN2	ORPHA:803
HP:0031466	Impairment in personality functioning	6311	ATXN2	OMIM:168600
HP:0031466	Impairment in personality functioning	1610	DAO	ORPHA:803
HP:0031466	Impairment in personality functioning	2066	ERBB4	ORPHA:803
HP:0031466	Impairment in personality functioning	311	ANXA11	ORPHA:803
HP:0031466	Impairment in personality functioning	23025	UNC13A	ORPHA:803
HP:0031466	Impairment in personality functioning	899	CCNF	ORPHA:803
HP:0031466	Impairment in personality functioning	27286	SRPX2	ORPHA:1945
HP:0031466	Impairment in personality functioning	7201	TRHR	ORPHA:99832
HP:0031466	Impairment in personality functioning	5649	RELN	ORPHA:101046
HP:0031466	Impairment in personality functioning	9211	LGI1	ORPHA:101046
HP:0031466	Impairment in personality functioning	9681	DEPDC5	ORPHA:101046
HP:0031466	Impairment in personality functioning	9681	DEPDC5	ORPHA:98784
HP:0031466	Impairment in personality functioning	5428	POLG	OMIM:607459
HP:0031466	Impairment in personality functioning	5428	POLG	ORPHA:254892
HP:0031466	Impairment in personality functioning	5428	POLG	OMIM:258450
HP:0031466	Impairment in personality functioning	5428	POLG	ORPHA:254886
HP:0031466	Impairment in personality functioning	5428	POLG	OMIM:157640
HP:0031466	Impairment in personality functioning	5428	POLG	ORPHA:70595
HP:0031466	Impairment in personality functioning	56652	TWNK	OMIM:607459
HP:0031466	Impairment in personality functioning	56652	TWNK	ORPHA:254892
HP:0031466	Impairment in personality functioning	56652	TWNK	OMIM:609286
HP:0031466	Impairment in personality functioning	56652	TWNK	ORPHA:70595
HP:0031466	Impairment in personality functioning	80331	DNAJC5	OMIM:162350
HP:0031466	Impairment in personality functioning	11277	TREX1	ORPHA:247691
HP:0031466	Impairment in personality functioning	51142	CHCHD2	OMIM:616710
HP:0031466	Impairment in personality functioning	11232	POLG2	OMIM:619425
HP:0031466	Impairment in personality functioning	11232	POLG2	ORPHA:254892
HP:0031466	Impairment in personality functioning	291	SLC25A4	ORPHA:254892
HP:0031466	Impairment in personality functioning	81848	SPRY4	ORPHA:432
HP:0031466	Impairment in personality functioning	128674	PROKR2	ORPHA:432
HP:0031466	Impairment in personality functioning	60675	PROK2	ORPHA:432
HP:0031466	Impairment in personality functioning	55636	CHD7	ORPHA:432
HP:0031466	Impairment in personality functioning	6870	TACR3	ORPHA:432
HP:0031466	Impairment in personality functioning	1848	DUSP6	ORPHA:432
HP:0031466	Impairment in personality functioning	26012	NSMF	ORPHA:432
HP:0031466	Impairment in personality functioning	55717	WDR11	ORPHA:432
HP:0031466	Impairment in personality functioning	9394	HS6ST1	ORPHA:432
HP:0031466	Impairment in personality functioning	2796	GNRH1	ORPHA:432
HP:0031466	Impairment in personality functioning	2798	GNRHR	ORPHA:432
HP:0031466	Impairment in personality functioning	84634	KISS1R	ORPHA:432
HP:0031466	Impairment in personality functioning	6866	TAC3	ORPHA:432
HP:0031466	Impairment in personality functioning	8822	FGF17	ORPHA:432
HP:0031466	Impairment in personality functioning	3814	KISS1	ORPHA:432
HP:0031466	Impairment in personality functioning	4558	MT-TF	ORPHA:550
HP:0031466	Impairment in personality functioning	4572	MT-TQ	ORPHA:550
HP:0031466	Impairment in personality functioning	4512	MT-CO1	ORPHA:550
HP:0031466	Impairment in personality functioning	4513	MT-CO2	ORPHA:550
HP:0031466	Impairment in personality functioning	4514	MT-CO3	ORPHA:550
HP:0031466	Impairment in personality functioning	4578	MT-TW	ORPHA:550
HP:0031466	Impairment in personality functioning	4540	MT-ND5	ORPHA:550
HP:0031466	Impairment in personality functioning	4541	MT-ND6	ORPHA:550
HP:0031466	Impairment in personality functioning	4535	MT-ND1	ORPHA:550
HP:0031466	Impairment in personality functioning	4538	MT-ND4	ORPHA:550
HP:0031466	Impairment in personality functioning	4567	MT-TL1	ORPHA:550
HP:0031466	Impairment in personality functioning	4567	MT-TL1	ORPHA:663
HP:0031466	Impairment in personality functioning	4574	MT-TS1	ORPHA:550
HP:0031466	Impairment in personality functioning	4574	MT-TS1	ORPHA:663
HP:0031466	Impairment in personality functioning	4575	MT-TS2	ORPHA:550
HP:0031466	Impairment in personality functioning	4575	MT-TS2	ORPHA:231183
HP:0031466	Impairment in personality functioning	4564	MT-TH	ORPHA:550
HP:0031466	Impairment in personality functioning	2767	GNA11	ORPHA:428
HP:0031466	Impairment in personality functioning	846	CASR	ORPHA:428
HP:0031466	Impairment in personality functioning	79813	EHMT1	ORPHA:96147
HP:0031466	Impairment in personality functioning	4001	LMNB1	OMIM:169500
HP:0031466	Impairment in personality functioning	8675	STX16	ORPHA:94089
HP:0031466	Impairment in personality functioning	4568	MT-TL2	ORPHA:663
HP:0031466	Impairment in personality functioning	4570	MT-TN	ORPHA:663
HP:0031466	Impairment in personality functioning	7084	TK2	ORPHA:254886
HP:0031466	Impairment in personality functioning	84909	AOPEP	OMIM:619565
HP:0031466	Impairment in personality functioning	80347	COASY	OMIM:615643
HP:0031466	Impairment in personality functioning	57505	AARS2	OMIM:615889
HP:0031466	Impairment in personality functioning	5053	PAH	OMIM:261600
HP:0031466	Impairment in personality functioning	5053	PAH	ORPHA:79254
HP:0031466	Impairment in personality functioning	4952	OCRL	ORPHA:534
HP:0031466	Impairment in personality functioning	2592	GALT	ORPHA:79239
HP:0031466	Impairment in personality functioning	3356	HTR2A	OMIM:608516
HP:0031466	Impairment in personality functioning	3356	HTR2A	OMIM:164230
HP:0031466	Impairment in personality functioning	2289	FKBP5	OMIM:608516
HP:0031466	Impairment in personality functioning	121278	TPH2	OMIM:608516
HP:0031466	Impairment in personality functioning	121278	TPH2	OMIM:613003
HP:0031466	Impairment in personality functioning	6609	SMPD1	ORPHA:77293
HP:0031466	Impairment in personality functioning	54834	GDAP2	OMIM:618369
HP:0031466	Impairment in personality functioning	23317	DNAJC13	ORPHA:411602
HP:0031466	Impairment in personality functioning	1981	EIF4G1	ORPHA:411602
HP:0031466	Impairment in personality functioning	55737	VPS35	ORPHA:411602
HP:0031466	Impairment in personality functioning	26058	GIGYF2	ORPHA:411602
HP:0031466	Impairment in personality functioning	1201	CLN3	ORPHA:228346
HP:0031466	Impairment in personality functioning	3759	KCNJ2	OMIM:170390
HP:0031466	Impairment in personality functioning	1312	COMT	ORPHA:567
HP:0031466	Impairment in personality functioning	221037	JMJD1C	ORPHA:567
HP:0031466	Impairment in personality functioning	2812	GP1BB	ORPHA:567
HP:0031466	Impairment in personality functioning	6239	RREB1	ORPHA:567
HP:0031466	Impairment in personality functioning	6899	TBX1	ORPHA:567
HP:0031466	Impairment in personality functioning	7290	HIRA	ORPHA:567
HP:0031466	Impairment in personality functioning	9632	SEC24C	ORPHA:567
HP:0031466	Impairment in personality functioning	7353	UFD1	ORPHA:567
HP:0031466	Impairment in personality functioning	421	ARVCF	ORPHA:567
HP:0031466	Impairment in personality functioning	2717	GLA	ORPHA:324
HP:0031466	Impairment in personality functioning	5582	PRKCG	OMIM:605361
HP:0031466	Impairment in personality functioning	5805	PTS	ORPHA:13
HP:0031466	Impairment in personality functioning	1137	CHRNA4	ORPHA:98784
HP:0031466	Impairment in personality functioning	1135	CHRNA2	ORPHA:98784
HP:0031466	Impairment in personality functioning	57010	CABP4	ORPHA:98784
HP:0031466	Impairment in personality functioning	1141	CHRNB2	ORPHA:98784
HP:0031466	Impairment in personality functioning	1392	CRH	ORPHA:98784
HP:0031466	Impairment in personality functioning	164	AP1G1	OMIM:619467
HP:0031466	Impairment in personality functioning	10046	MAMLD1	ORPHA:95706
HP:0031466	Impairment in personality functioning	367	AR	ORPHA:95706
HP:0031466	Impairment in personality functioning	57187	THOC2	ORPHA:457240
HP:0031466	Impairment in personality functioning	57187	THOC2	OMIM:300957
HP:0031466	Impairment in personality functioning	57338	JPH3	OMIM:606438
HP:0031466	Impairment in personality functioning	9757	KMT2B	ORPHA:589618
HP:0031466	Impairment in personality functioning	7399	USH2A	ORPHA:231178
HP:0031466	Impairment in personality functioning	79955	PDZD7	ORPHA:231178
HP:0031466	Impairment in personality functioning	4647	MYO7A	ORPHA:231178
HP:0031466	Impairment in personality functioning	4647	MYO7A	ORPHA:231169
HP:0031466	Impairment in personality functioning	25861	WHRN	ORPHA:231178
HP:0031466	Impairment in personality functioning	84059	ADGRV1	ORPHA:231178
HP:0031466	Impairment in personality functioning	8863	PER3	OMIM:616882
HP:0031466	Impairment in personality functioning	6711	SPTBN1	OMIM:619475
HP:0031466	Impairment in personality functioning	2643	GCH1	ORPHA:98808
HP:0031466	Impairment in personality functioning	4929	NR4A2	ORPHA:98808
HP:0031466	Impairment in personality functioning	4929	NR4A2	OMIM:168600
HP:0031466	Impairment in personality functioning	3615	IMPDH2	ORPHA:98808
HP:0031466	Impairment in personality functioning	3425	IDUA	ORPHA:93473
HP:0031466	Impairment in personality functioning	378884	NHLRC1	ORPHA:501
HP:0031466	Impairment in personality functioning	7957	EPM2A	ORPHA:501
HP:0031466	Impairment in personality functioning	203228	C9orf72	OMIM:105550
HP:0031466	Impairment in personality functioning	493856	CISD2	OMIM:604928
HP:0031466	Impairment in personality functioning	7504	XK	OMIM:300842
HP:0031466	Impairment in personality functioning	10939	AFG3L2	ORPHA:101109
HP:0031466	Impairment in personality functioning	9213	XPR1	OMIM:616413
HP:0031466	Impairment in personality functioning	3145	HMBS	OMIM:176000
HP:0031466	Impairment in personality functioning	3145	HMBS	ORPHA:79276
HP:0031466	Impairment in personality functioning	8911	CACNA1I	OMIM:620114
HP:0031466	Impairment in personality functioning	617	BCS1L	OMIM:124000
HP:0031466	Impairment in personality functioning	7401	CLRN1	ORPHA:231183
HP:0031466	Impairment in personality functioning	22901	ARSG	ORPHA:231183
HP:0031466	Impairment in personality functioning	3035	HARS1	ORPHA:231183
HP:0031466	Impairment in personality functioning	84131	CEP78	ORPHA:231183
HP:0031466	Impairment in personality functioning	4221	MEN1	ORPHA:652
HP:0031466	Impairment in personality functioning	1027	CDKN1B	ORPHA:652
HP:0031466	Impairment in personality functioning	1026	CDKN1A	ORPHA:652
HP:0031466	Impairment in personality functioning	1030	CDKN2B	ORPHA:652
HP:0031466	Impairment in personality functioning	1031	CDKN2C	ORPHA:652
HP:0031466	Impairment in personality functioning	8913	CACNA1G	ORPHA:458803
HP:0031466	Impairment in personality functioning	8913	CACNA1G	OMIM:616795
HP:0031466	Impairment in personality functioning	5538	PPT1	OMIM:256730
HP:0031466	Impairment in personality functioning	6532	SLC6A4	OMIM:164230
HP:0031466	Impairment in personality functioning	875	CBS	OMIM:236200
HP:0031466	Impairment in personality functioning	1371	CPOX	OMIM:121300
HP:0031466	Impairment in personality functioning	10079	ATP9A	OMIM:620242
HP:0031466	Impairment in personality functioning	8864	PER2	OMIM:604348
HP:0031466	Impairment in personality functioning	10083	USH1C	ORPHA:231169
HP:0031466	Impairment in personality functioning	124590	USH1G	ORPHA:231169
HP:0031466	Impairment in personality functioning	83715	ESPN	ORPHA:231169
HP:0031466	Impairment in personality functioning	10518	CIB2	ORPHA:231169
HP:0031466	Impairment in personality functioning	65217	PCDH15	ORPHA:231169
HP:0031466	Impairment in personality functioning	2747	GLUD2	OMIM:168600
HP:0031466	Impairment in personality functioning	126	ADH1C	OMIM:168600
HP:0031466	Impairment in personality functioning	4576	MT-TT	OMIM:168600
HP:0031466	Impairment in personality functioning	9627	SNCAIP	OMIM:168600
HP:0031466	Impairment in personality functioning	5133	PDCD1	OMIM:126200
HP:0031466	Impairment in personality functioning	55367	PIDD1	OMIM:619827
HP:0031466	Impairment in personality functioning	25978	CHMP2B	ORPHA:275864
HP:0031466	Impairment in personality functioning	25978	CHMP2B	OMIM:600795
HP:0031466	Impairment in personality functioning	5663	PSEN1	ORPHA:275864
HP:0031466	Impairment in personality functioning	54664	TMEM106B	ORPHA:275864
HP:0031466	Impairment in personality functioning	8878	SQSTM1	ORPHA:275864
HP:0031466	Impairment in personality functioning	4137	MAPT	ORPHA:275864
HP:0031466	Impairment in personality functioning	54209	TREM2	ORPHA:275864
HP:0031466	Impairment in personality functioning	7415	VCP	ORPHA:275864
HP:0031466	Impairment in personality functioning	2760	GM2A	ORPHA:309246
HP:0031466	Impairment in personality functioning	7305	TYROBP	OMIM:221770
HP:0031466	Impairment in personality functioning	1639	DCTN1	OMIM:168605
HP:0031466	Impairment in personality functioning	5575	PRKAR1B	ORPHA:412066
HP:0031466	Impairment in personality functioning	199857	ALG14	OMIM:619031
HP:0031466	Impairment in personality functioning	7528	YY1	ORPHA:506358
HP:0031466	Impairment in personality functioning	7528	YY1	OMIM:617557
HP:0031466	Impairment in personality functioning	7528	YY1	ORPHA:97279
HP:0031466	Impairment in personality functioning	23394	ADNP	ORPHA:404448
HP:0031466	Impairment in personality functioning	23394	ADNP	OMIM:615873
HP:0031466	Impairment in personality functioning	340533	NEXMIF	OMIM:300912
HP:0031466	Impairment in personality functioning	50651	SLC45A1	OMIM:617532
HP:0031466	Impairment in personality functioning	6938	TCF12	OMIM:619718
HP:0031466	Impairment in personality functioning	3008	H1-4	OMIM:617537
HP:0031466	Impairment in personality functioning	10060	ABCC9	OMIM:619719
HP:0031466	Impairment in personality functioning	64324	NSD1	ORPHA:821
HP:0031466	Impairment in personality functioning	29072	SETD2	ORPHA:821
HP:0031466	Impairment in personality functioning	29072	SETD2	OMIM:616831
HP:0031466	Impairment in personality functioning	10297	APC2	ORPHA:821
HP:0031466	Impairment in personality functioning	55209	SETD5	ORPHA:404440
HP:0031466	Impairment in personality functioning	116931	MED12L	OMIM:618872
HP:0031466	Impairment in personality functioning	3074	HEXB	ORPHA:309169
HP:0031466	Impairment in personality functioning	9578	CDC42BPB	OMIM:619841
HP:0031466	Impairment in personality functioning	7532	YWHAG	OMIM:617665
HP:0031466	Impairment in personality functioning	55904	KMT2E	OMIM:618512
HP:0031466	Impairment in personality functioning	2314	FLII	ORPHA:819
HP:0031466	Impairment in personality functioning	10743	RAI1	ORPHA:819
HP:0031466	Impairment in personality functioning	10743	RAI1	ORPHA:1713
HP:0031466	Impairment in personality functioning	10522	DEAF1	ORPHA:819
HP:0031466	Impairment in personality functioning	10847	SRCAP	ORPHA:2044
HP:0031466	Impairment in personality functioning	27102	EIF2AK1	OMIM:618878
HP:0031466	Impairment in personality functioning	6660	SOX5	ORPHA:313892
HP:0031466	Impairment in personality functioning	6660	SOX5	OMIM:616803
HP:0031466	Impairment in personality functioning	284058	KANSL1	ORPHA:363958
HP:0031466	Impairment in personality functioning	284058	KANSL1	ORPHA:363965
HP:0031466	Impairment in personality functioning	284058	KANSL1	OMIM:610443
HP:0031466	Impairment in personality functioning	55870	ASH1L	OMIM:617796
HP:0031466	Impairment in personality functioning	9739	SETD1A	OMIM:619056
HP:0031466	Impairment in personality functioning	7276	TTR	OMIM:105210
HP:0031466	Impairment in personality functioning	64919	BCL11B	OMIM:618092
HP:0031466	Impairment in personality functioning	4297	KMT2A	ORPHA:319182
HP:0031466	Impairment in personality functioning	5813	PURA	ORPHA:438216
HP:0031466	Impairment in personality functioning	25942	SIN3A	OMIM:613406
HP:0031466	Impairment in personality functioning	6335	SCN9A	ORPHA:36387
HP:0031466	Impairment in personality functioning	6335	SCN9A	ORPHA:33069
HP:0031466	Impairment in personality functioning	112755	STX1B	ORPHA:36387
HP:0031466	Impairment in personality functioning	2563	GABRD	ORPHA:36387
HP:0031466	Impairment in personality functioning	6326	SCN2A	ORPHA:36387
HP:0031466	Impairment in personality functioning	6326	SCN2A	ORPHA:33069
HP:0031466	Impairment in personality functioning	6324	SCN1B	ORPHA:36387
HP:0031466	Impairment in personality functioning	6324	SCN1B	ORPHA:33069
HP:0031466	Impairment in personality functioning	348980	HCN1	ORPHA:36387
HP:0031466	Impairment in personality functioning	7915	ALDH5A1	OMIM:271980
HP:0031466	Impairment in personality functioning	8493	PPM1D	OMIM:617450
HP:0031466	Impairment in personality functioning	1182	CLCN3	OMIM:619512
HP:0031466	Impairment in personality functioning	23126	POGZ	OMIM:616364
HP:0031466	Impairment in personality functioning	57680	CHD8	OMIM:615032
HP:0031466	Impairment in personality functioning	5063	PAK3	OMIM:300558
HP:0031466	Impairment in personality functioning	4784	NFIX	ORPHA:420179
HP:0031466	Impairment in personality functioning	4784	NFIX	OMIM:614753
HP:0031466	Impairment in personality functioning	54499	TMCO1	OMIM:213980
HP:0031466	Impairment in personality functioning	1859	DYRK1A	ORPHA:464311
HP:0031466	Impairment in personality functioning	1859	DYRK1A	ORPHA:268261
HP:0031466	Impairment in personality functioning	51284	TLR7	OMIM:301080
HP:0031466	Impairment in personality functioning	23137	SMC5	OMIM:620185
HP:0031466	Impairment in personality functioning	55343	SLC35C1	OMIM:266265
HP:0031466	Impairment in personality functioning	111	ADCY5	OMIM:606703
HP:0031466	Impairment in personality functioning	111	ADCY5	OMIM:619651
HP:0031466	Impairment in personality functioning	26137	ZBTB20	OMIM:259050
HP:0031466	Impairment in personality functioning	27086	FOXP1	ORPHA:391372
HP:0031466	Impairment in personality functioning	27086	FOXP1	OMIM:613670
HP:0031466	Impairment in personality functioning	6942	TCF20	OMIM:618430
HP:0031466	Impairment in personality functioning	10430	TMEM147	OMIM:620075
HP:0031466	Impairment in personality functioning	11152	WDR45	OMIM:300894
HP:0031466	Impairment in personality functioning	54941	RNF125	OMIM:616260
HP:0031466	Impairment in personality functioning	340024	SLC6A19	ORPHA:2116
HP:0031466	Impairment in personality functioning	57393	CLTRN	ORPHA:2116
HP:0031466	Impairment in personality functioning	57479	PRR12	OMIM:619539
HP:0031466	Impairment in personality functioning	162417	NAGS	ORPHA:927
HP:0031466	Impairment in personality functioning	51574	LARP7	ORPHA:319671
HP:0031466	Impairment in personality functioning	51574	LARP7	OMIM:615071
HP:0031466	Impairment in personality functioning	3339	HSPG2	ORPHA:800
HP:0031466	Impairment in personality functioning	84978	FRMD5	OMIM:620094
HP:0031466	Impairment in personality functioning	5654	HTRA1	OMIM:600142
HP:0031466	Impairment in personality functioning	80199	FUZ	ORPHA:1136
HP:0031466	Impairment in personality functioning	1642	DDB1	OMIM:619426
HP:0031466	Impairment in personality functioning	196528	ARID2	OMIM:617808
HP:0031466	Impairment in personality functioning	1801	DPH1	ORPHA:459061
HP:0031466	Impairment in personality functioning	1203	CLN5	ORPHA:228360
HP:0031466	Impairment in personality functioning	57526	PCDH19	ORPHA:101039
HP:0031466	Impairment in personality functioning	57526	PCDH19	ORPHA:33069
HP:0031466	Impairment in personality functioning	7080	NKX2-1	OMIM:118700
HP:0031466	Impairment in personality functioning	11133	KPTN	OMIM:615637
HP:0031466	Impairment in personality functioning	11133	KPTN	ORPHA:397612
HP:0031466	Impairment in personality functioning	26115	TANC2	OMIM:618906
HP:0031466	Impairment in personality functioning	23114	NFASC	OMIM:618356
HP:0031466	Impairment in personality functioning	2782	GNB1	OMIM:616973
HP:0031466	Impairment in personality functioning	23314	SATB2	ORPHA:251019
HP:0031466	Impairment in personality functioning	3097	HIVEP2	OMIM:616977
HP:0031466	Impairment in personality functioning	55777	MBD5	OMIM:156200
HP:0031466	Impairment in personality functioning	51132	RLIM	OMIM:300978
HP:0031466	Impairment in personality functioning	24140	FTSJ1	OMIM:309549
HP:0031466	Impairment in personality functioning	7468	NSD2	OMIM:619695
HP:0031466	Impairment in personality functioning	1737	DLAT	ORPHA:79244
HP:0031466	Impairment in personality functioning	1000	CDH2	OMIM:618929
HP:0031466	Impairment in personality functioning	2898	GRIK2	OMIM:619580
HP:0031466	Impairment in personality functioning	23258	DENND5A	OMIM:617281
HP:0031466	Impairment in personality functioning	5718	PSMD12	ORPHA:529962
HP:0031466	Impairment in personality functioning	2186	BPTF	ORPHA:529962
HP:0031466	Impairment in personality functioning	26040	SETBP1	OMIM:616078
HP:0031466	Impairment in personality functioning	3188	HNRNPH2	OMIM:300986
HP:0031466	Impairment in personality functioning	23152	CIC	OMIM:617600
HP:0031466	Impairment in personality functioning	6638	SNRPN	ORPHA:177907
HP:0031466	Impairment in personality functioning	5498	PPOX	ORPHA:79473
HP:0031466	Impairment in personality functioning	23476	BRD4	ORPHA:199
HP:0031466	Impairment in personality functioning	9126	SMC3	ORPHA:199
HP:0031466	Impairment in personality functioning	25836	NIPBL	ORPHA:199
HP:0031466	Impairment in personality functioning	55869	HDAC8	ORPHA:199
HP:0031466	Impairment in personality functioning	5885	RAD21	ORPHA:199
HP:0031466	Impairment in personality functioning	63932	STEEP1	OMIM:301013
HP:0031466	Impairment in personality functioning	6872	TAF1	OMIM:300966
HP:0031466	Impairment in personality functioning	23067	SETD1B	OMIM:619000
HP:0031466	Impairment in personality functioning	5500	PPP1CB	OMIM:617506
HP:0031466	Impairment in personality functioning	55164	SHQ1	OMIM:619922
HP:0031466	Impairment in personality functioning	407975	MIR17HG	ORPHA:391646
HP:0031466	Impairment in personality functioning	595	CCND1	ORPHA:892
HP:0031466	Impairment in personality functioning	4841	NONO	ORPHA:466791
HP:0031466	Impairment in personality functioning	10846	PDE10A	ORPHA:494541
HP:0031466	Impairment in personality functioning	10084	PQBP1	OMIM:309500
HP:0031466	Impairment in personality functioning	9320	TRIP12	OMIM:617752
HP:0031466	Impairment in personality functioning	4781	NFIB	OMIM:618286
HP:0031466	Impairment in personality functioning	55023	PHIP	OMIM:617991
HP:0031466	Impairment in personality functioning	51317	PHF21A	OMIM:618725
HP:0031466	Impairment in personality functioning	203190	LGI3	OMIM:620007
HP:0031466	Impairment in personality functioning	4693	NDP	ORPHA:649
HP:0031466	Impairment in personality functioning	11011	TLK2	OMIM:618050
HP:0031466	Impairment in personality functioning	2182	ACSL4	OMIM:300387
HP:0031466	Impairment in personality functioning	9699	RIMS2	OMIM:618970
HP:0031466	Impairment in personality functioning	284361	EMC10	OMIM:619264
HP:0031466	Impairment in personality functioning	3480	IGF1R	OMIM:270450
HP:0031466	Impairment in personality functioning	64601	VPS16	OMIM:619291
HP:0031466	Impairment in personality functioning	1139	CHRNA7	ORPHA:199318
HP:0031466	Impairment in personality functioning	93627	TBCK	ORPHA:488632
HP:0031466	Impairment in personality functioning	2890	GRIA1	OMIM:619927
HP:0031466	Impairment in personality functioning	10137	RBM12	OMIM:617629
HP:0031466	Impairment in personality functioning	2313	FLI1	ORPHA:2308
HP:0031466	Impairment in personality functioning	488	ATP2A2	OMIM:124200
HP:0031466	Impairment in personality functioning	51324	SPG21	ORPHA:101001
HP:0031466	Impairment in personality functioning	1759	DNM1	ORPHA:2382
HP:0031466	Impairment in personality functioning	5602	MAPK10	ORPHA:2382
HP:0031466	Impairment in personality functioning	773	CACNA1A	ORPHA:2382
HP:0031466	Impairment in personality functioning	6323	SCN1A	ORPHA:2382
HP:0031466	Impairment in personality functioning	23316	CUX2	ORPHA:2382
HP:0031466	Impairment in personality functioning	1106	CHD2	ORPHA:2382
HP:0031466	Impairment in personality functioning	6095	RORA	OMIM:618060
HP:0031466	Impairment in personality functioning	51322	WAC	ORPHA:466950
HP:0031466	Impairment in personality functioning	25792	CIZ1	ORPHA:420492
HP:0031466	Impairment in personality functioning	23111	SPART	ORPHA:101000
HP:0031466	Impairment in personality functioning	84196	USP48	ORPHA:96253
HP:0031466	Impairment in personality functioning	7157	TP53	ORPHA:96253
HP:0031466	Impairment in personality functioning	7157	TP53	ORPHA:1501
HP:0031466	Impairment in personality functioning	9101	USP8	ORPHA:96253
HP:0031466	Impairment in personality functioning	64072	CDH23	ORPHA:96253
HP:0031466	Impairment in personality functioning	2908	NR3C1	ORPHA:96253
HP:0031466	Impairment in personality functioning	673	BRAF	ORPHA:96253
HP:0031466	Impairment in personality functioning	546	ATRX	ORPHA:96253
HP:0031466	Impairment in personality functioning	1813	DRD2	ORPHA:36899
HP:0031466	Impairment in personality functioning	8910	SGCE	ORPHA:36899
HP:0031466	Impairment in personality functioning	8910	SGCE	OMIM:159900
HP:0031466	Impairment in personality functioning	79734	KCTD17	ORPHA:36899
HP:0031466	Impairment in personality functioning	1861	TOR1A	ORPHA:36899
HP:0031466	Impairment in personality functioning	1387	CREBBP	ORPHA:353281
HP:0031466	Impairment in personality functioning	1387	CREBBP	ORPHA:353277
HP:0031466	Impairment in personality functioning	23384	SPECC1L	OMIM:145420
HP:0031466	Impairment in personality functioning	7428	VHL	ORPHA:29072
HP:0031466	Impairment in personality functioning	7428	VHL	ORPHA:276621
HP:0031466	Impairment in personality functioning	1743	DLST	ORPHA:29072
HP:0031466	Impairment in personality functioning	4191	MDH2	ORPHA:29072
HP:0031466	Impairment in personality functioning	5979	RET	ORPHA:29072
HP:0031466	Impairment in personality functioning	5979	RET	ORPHA:276621
HP:0031466	Impairment in personality functioning	6389	SDHA	ORPHA:29072
HP:0031466	Impairment in personality functioning	23095	KIF1B	ORPHA:29072
HP:0031466	Impairment in personality functioning	2271	FH	ORPHA:29072
HP:0031466	Impairment in personality functioning	8402	SLC25A11	ORPHA:29072
HP:0031466	Impairment in personality functioning	54949	SDHAF2	ORPHA:29072
HP:0031466	Impairment in personality functioning	55654	TMEM127	ORPHA:29072
HP:0031466	Impairment in personality functioning	4763	NF1	ORPHA:29072
HP:0031466	Impairment in personality functioning	6391	SDHC	ORPHA:29072
HP:0031466	Impairment in personality functioning	6392	SDHD	ORPHA:29072
HP:0031466	Impairment in personality functioning	6392	SDHD	ORPHA:276621
HP:0031466	Impairment in personality functioning	6390	SDHB	ORPHA:29072
HP:0031466	Impairment in personality functioning	6390	SDHB	ORPHA:276621
HP:0031466	Impairment in personality functioning	4149	MAX	ORPHA:29072
HP:0031466	Impairment in personality functioning	2033	EP300	ORPHA:353284
HP:0031466	Impairment in personality functioning	54832	VPS13C	ORPHA:2828
HP:0031466	Impairment in personality functioning	11315	PARK7	ORPHA:2828
HP:0031466	Impairment in personality functioning	7345	UCHL1	ORPHA:2828
HP:0031466	Impairment in personality functioning	27429	HTRA2	ORPHA:2828
HP:0031466	Impairment in personality functioning	120892	LRRK2	ORPHA:2828
HP:0031466	Impairment in personality functioning	9829	DNAJC6	ORPHA:2828
HP:0031466	Impairment in personality functioning	6622	SNCA	ORPHA:2828
HP:0031466	Impairment in personality functioning	5420	PODXL	ORPHA:2828
HP:0031466	Impairment in personality functioning	65018	PINK1	ORPHA:2828
HP:0031466	Impairment in personality functioning	8867	SYNJ1	ORPHA:2828
HP:0031466	Impairment in personality functioning	5071	PRKN	ORPHA:2828
HP:0031466	Impairment in personality functioning	3781	KCNN2	OMIM:619725
HP:0031466	Impairment in personality functioning	1788	DNMT3A	ORPHA:276621
HP:0031466	Impairment in personality functioning	2034	EPAS1	ORPHA:276621
HP:0031466	Impairment in personality functioning	84133	ZNRF3	ORPHA:1501
HP:0031466	Impairment in personality functioning	5573	PRKAR1A	ORPHA:1501
HP:0031466	Impairment in personality functioning	1499	CTNNB1	ORPHA:1501
HP:0031466	Impairment in personality functioning	1029	CDKN2A	ORPHA:1501
HP:0031466	Impairment in personality functioning	7015	TERT	ORPHA:1501
HP:0031466	Impairment in personality functioning	540	ATP7B	ORPHA:905
HP:0031466	Impairment in personality functioning	6999	TDO2	OMIM:600627
HP:0031466	Impairment in personality functioning	2896	GRN	OMIM:607485
HP:0031466	Impairment in personality functioning	79796	ALG9	ORPHA:79328
HP:0031466	Impairment in personality functioning	23096	IQSEC2	ORPHA:397933
HP:0031466	Impairment in personality functioning	6792	CDKL5	ORPHA:3095
HP:0031466	Impairment in personality functioning	22854	NTNG1	ORPHA:3095
HP:0031466	Impairment in personality functioning	9568	GABBR2	ORPHA:3095
HP:0031466	Impairment in personality functioning	9568	GABBR2	OMIM:617903
HP:0031466	Impairment in personality functioning	4204	MECP2	ORPHA:3095
HP:0031466	Impairment in personality functioning	8243	SMC1A	ORPHA:3095
HP:0031466	Impairment in personality functioning	29968	PSAT1	ORPHA:284417
HP:0031466	Impairment in personality functioning	56992	KIF15	ORPHA:261323
HP:0031466	Impairment in personality functioning	80704	SLC19A3	ORPHA:263410
HP:0031466	Impairment in personality functioning	23102	TBC1D2B	OMIM:619323
HP:0031466	Impairment in personality functioning	94005	PIGS	OMIM:618143
HP:0031466	Impairment in personality functioning	54914	FOCAD	OMIM:619991
HP:0031466	Impairment in personality functioning	2290	FOXG1	OMIM:613454
HP:0031466	Impairment in personality functioning	26227	PHGDH	ORPHA:79351
HP:0031466	Impairment in personality functioning	2581	GALC	ORPHA:206436
HP:0031466	Impairment in personality functioning	5660	PSAP	ORPHA:206436
HP:0031466	Impairment in personality functioning	6571	SLC18A2	ORPHA:352649
HP:0031466	Impairment in personality functioning	23230	VPS13A	ORPHA:2388
HP:0031466	Impairment in personality functioning	2328	FMO3	ORPHA:468726
HP:0031466	Impairment in personality functioning	4487	MSX1	ORPHA:199302
HP:0031466	Impairment in personality functioning	5818	NECTIN1	ORPHA:199302
HP:0031466	Impairment in personality functioning	8626	TP63	ORPHA:199302
HP:0031466	Impairment in personality functioning	3664	IRF6	ORPHA:199302
HP:0031466	Impairment in personality functioning	6513	SLC2A1	ORPHA:64280
HP:0031466	Impairment in personality functioning	2562	GABRB3	ORPHA:64280
HP:0031466	Impairment in personality functioning	2554	GABRA1	ORPHA:64280
HP:0031466	Impairment in personality functioning	8912	CACNA1H	ORPHA:64280
HP:0031466	Impairment in personality functioning	8629	JRK	ORPHA:64280
HP:0031466	Impairment in personality functioning	2566	GABRG2	ORPHA:64280
HP:0031466	Impairment in personality functioning	9049	AIP	OMIM:219090
HP:0031466	Impairment in personality functioning	9896	FIG4	ORPHA:208441
HP:0031466	Impairment in personality functioning	210	ALAD	ORPHA:100924
HP:0031467	Negative affectivity	2328	FMO3	ORPHA:468726
HP:0031469	Low self esteem	4487	MSX1	ORPHA:199302
HP:0031469	Low self esteem	5818	NECTIN1	ORPHA:199302
HP:0031469	Low self esteem	8626	TP63	ORPHA:199302
HP:0031469	Low self esteem	3664	IRF6	ORPHA:199302
HP:0031469	Low self esteem	2328	FMO3	ORPHA:468726
HP:0031469	Low self esteem	6513	SLC2A1	ORPHA:64280
HP:0031469	Low self esteem	2562	GABRB3	ORPHA:64280
HP:0031469	Low self esteem	2554	GABRA1	ORPHA:64280
HP:0031469	Low self esteem	8912	CACNA1H	ORPHA:64280
HP:0031469	Low self esteem	8629	JRK	ORPHA:64280
HP:0031469	Low self esteem	2566	GABRG2	ORPHA:64280
HP:0100580	Barrett esophagus	115908	CTHRC1	OMIM:614266
HP:0100580	Barrett esophagus	4481	MSR1	OMIM:614266
HP:0100580	Barrett esophagus	51008	ASCC1	OMIM:614266
HP:0100580	Barrett esophagus	5885	RAD21	OMIM:611376
HP:0100580	Barrett esophagus	4629	MYH11	OMIM:619350
HP:0100580	Barrett esophagus	2271	FH	ORPHA:523
HP:0100581	Dilatation of renal calices	51322	WAC	ORPHA:466950
HP:0100581	Dilatation of renal calices	4297	KMT2A	ORPHA:319182
HP:0100581	Dilatation of renal calices	11128	POLR3A	ORPHA:3455
HP:0100582	Nasal polyposis	27019	DNAI1	OMIM:244400
HP:0100582	Nasal polyposis	27019	DNAI1	ORPHA:244
HP:0100582	Nasal polyposis	25981	DNAH1	ORPHA:244
HP:0100582	Nasal polyposis	115948	ODAD3	ORPHA:244
HP:0100582	Nasal polyposis	115948	ODAD3	OMIM:616037
HP:0100582	Nasal polyposis	54768	HYDIN	ORPHA:244
HP:0100582	Nasal polyposis	54768	HYDIN	OMIM:608647
HP:0100582	Nasal polyposis	352909	DNAAF3	ORPHA:244
HP:0100582	Nasal polyposis	352909	DNAAF3	OMIM:606763
HP:0100582	Nasal polyposis	27148	STK36	ORPHA:244
HP:0100582	Nasal polyposis	51314	NME8	ORPHA:244
HP:0100582	Nasal polyposis	92749	DRC1	ORPHA:244
HP:0100582	Nasal polyposis	54970	TTC12	ORPHA:244
HP:0100582	Nasal polyposis	152110	NEK10	ORPHA:244
HP:0100582	Nasal polyposis	8481	OFD1	ORPHA:244
HP:0100582	Nasal polyposis	2302	FOXJ1	ORPHA:244
HP:0100582	Nasal polyposis	221421	RSPH9	ORPHA:244
HP:0100582	Nasal polyposis	85478	CCDC65	ORPHA:244
HP:0100582	Nasal polyposis	55036	CCDC40	ORPHA:244
HP:0100582	Nasal polyposis	55036	CCDC40	OMIM:613808
HP:0100582	Nasal polyposis	51364	ZMYND10	ORPHA:244
HP:0100582	Nasal polyposis	51364	ZMYND10	OMIM:615444
HP:0100582	Nasal polyposis	64446	DNAI2	ORPHA:244
HP:0100582	Nasal polyposis	6674	SPAG1	ORPHA:244
HP:0100582	Nasal polyposis	83544	DNAL1	ORPHA:244
HP:0100582	Nasal polyposis	89765	RSPH1	ORPHA:244
HP:0100582	Nasal polyposis	83538	ODAD4	ORPHA:244
HP:0100582	Nasal polyposis	83538	ODAD4	OMIM:617092
HP:0100582	Nasal polyposis	200373	CFAP221	ORPHA:244
HP:0100582	Nasal polyposis	374407	DNAJB13	ORPHA:244
HP:0100582	Nasal polyposis	55172	DNAAF2	ORPHA:244
HP:0100582	Nasal polyposis	161582	DNAAF4	ORPHA:244
HP:0100582	Nasal polyposis	2622	GAS8	ORPHA:244
HP:0100582	Nasal polyposis	23639	DNAAF11	ORPHA:244
HP:0100582	Nasal polyposis	23639	DNAAF11	OMIM:614935
HP:0100582	Nasal polyposis	345895	RSPH4A	ORPHA:244
HP:0100582	Nasal polyposis	54919	DNAAF5	ORPHA:244
HP:0100582	Nasal polyposis	6103	RPGR	ORPHA:244
HP:0100582	Nasal polyposis	388389	CCDC103	ORPHA:244
HP:0100582	Nasal polyposis	93233	ODAD1	ORPHA:244
HP:0100582	Nasal polyposis	55130	ODAD2	ORPHA:244
HP:0100582	Nasal polyposis	1767	DNAH5	ORPHA:244
HP:0100582	Nasal polyposis	83861	RSPH3	ORPHA:244
HP:0100582	Nasal polyposis	345643	MCIDAS	ORPHA:244
HP:0100582	Nasal polyposis	345643	MCIDAS	OMIM:618695
HP:0100582	Nasal polyposis	56683	CFAP298	ORPHA:244
HP:0100582	Nasal polyposis	79925	SPEF2	ORPHA:244
HP:0100582	Nasal polyposis	10309	CCNO	ORPHA:244
HP:0100582	Nasal polyposis	115399	LRRC56	ORPHA:244
HP:0100582	Nasal polyposis	139212	DNAAF6	ORPHA:244
HP:0100582	Nasal polyposis	123872	DNAAF1	ORPHA:244
HP:0100582	Nasal polyposis	85016	CFAP300	ORPHA:244
HP:0100582	Nasal polyposis	339829	CCDC39	ORPHA:244
HP:0100582	Nasal polyposis	8701	DNAH11	ORPHA:244
HP:0100582	Nasal polyposis	1770	DNAH9	ORPHA:244
HP:0100582	Nasal polyposis	246176	GAS2L2	ORPHA:244
HP:0100582	Nasal polyposis	1893	ECM1	ORPHA:530
HP:0100582	Nasal polyposis	6804	STX1A	ORPHA:586
HP:0100582	Nasal polyposis	2947	GSTM3	ORPHA:586
HP:0100582	Nasal polyposis	7040	TGFB1	ORPHA:586
HP:0100582	Nasal polyposis	7040	TGFB1	OMIM:219700
HP:0100582	Nasal polyposis	2729	GCLC	ORPHA:586
HP:0100582	Nasal polyposis	1084	CEACAM3	ORPHA:586
HP:0100582	Nasal polyposis	6556	SLC11A1	ORPHA:586
HP:0100582	Nasal polyposis	51164	DCTN4	ORPHA:586
HP:0100582	Nasal polyposis	3783	KCNN4	ORPHA:586
HP:0100582	Nasal polyposis	4282	MIF	ORPHA:586
HP:0100582	Nasal polyposis	1909	EDNRA	ORPHA:586
HP:0100582	Nasal polyposis	6550	SLC9A3	ORPHA:586
HP:0100582	Nasal polyposis	3162	HMOX1	ORPHA:586
HP:0100582	Nasal polyposis	115019	SLC26A9	ORPHA:586
HP:0100582	Nasal polyposis	3077	HFE	ORPHA:586
HP:0100582	Nasal polyposis	11254	SLC6A14	ORPHA:586
HP:0100582	Nasal polyposis	5265	SERPINA1	ORPHA:586
HP:0100582	Nasal polyposis	1080	CFTR	ORPHA:586
HP:0100582	Nasal polyposis	1080	CFTR	OMIM:219700
HP:0100582	Nasal polyposis	22802	CLCA4	ORPHA:586
HP:0100582	Nasal polyposis	4680	CEACAM6	ORPHA:586
HP:0100582	Nasal polyposis	2212	FCGR2A	OMIM:219700
HP:0100582	Nasal polyposis	30009	TBX21	OMIM:208550
HP:0100582	Nasal polyposis	5732	PTGER2	OMIM:208550
HP:0100582	Nasal polyposis	6794	STK11	ORPHA:2869
HP:0100582	Nasal polyposis	6794	STK11	OMIM:175200
HP:0100582	Nasal polyposis	6890	TAP1	OMIM:604571
HP:0100582	Nasal polyposis	6891	TAP2	OMIM:604571
HP:0100582	Nasal polyposis	6892	TAPBP	OMIM:604571
HP:0100582	Nasal polyposis	9094	UNC119	OMIM:615518
HP:0100582	Nasal polyposis	85452	CFAP74	OMIM:620197
HP:0100583	Corneal perforation	2263	FGFR2	OMIM:149730
HP:0100583	Corneal perforation	11107	PRDM5	OMIM:614170
HP:0100584	Endocarditis	2629	GBA1	ORPHA:2072
HP:0100584	Endocarditis	5573	PRKAR1A	ORPHA:615
HP:0100584	Endocarditis	5573	PRKAR1A	OMIM:255960
HP:0100584	Endocarditis	149233	IL23R	ORPHA:117
HP:0100584	Endocarditis	6775	STAT4	ORPHA:117
HP:0100584	Endocarditis	3586	IL10	ORPHA:117
HP:0100584	Endocarditis	4210	MEFV	ORPHA:117
HP:0100584	Endocarditis	1230	CCR1	ORPHA:117
HP:0100584	Endocarditis	355	FAS	ORPHA:117
HP:0100584	Endocarditis	3592	IL12A	ORPHA:117
HP:0100584	Endocarditis	101928376	IL12A-AS1	ORPHA:117
HP:0100584	Endocarditis	3106	HLA-B	ORPHA:117
HP:0100584	Endocarditis	7099	TLR4	ORPHA:117
HP:0100584	Endocarditis	3459	IFNGR1	ORPHA:117
HP:0100584	Endocarditis	720	C4A	ORPHA:117
HP:0100584	Endocarditis	337867	UBAC2	ORPHA:117
HP:0100584	Endocarditis	51752	ERAP1	ORPHA:117
HP:0100584	Endocarditis	8302	KLRC4	ORPHA:117
HP:0100585	Telangiectasia of the skin	54345	SOX18	OMIM:137940
HP:0100585	Telangiectasia of the skin	641	BLM	OMIM:210900
HP:0100585	Telangiectasia of the skin	94	ACVRL1	OMIM:600376
HP:0100585	Telangiectasia of the skin	170302	ARX	ORPHA:94083
HP:0100585	Telangiectasia of the skin	55315	SLC29A3	OMIM:602782
HP:0100585	Telangiectasia of the skin	55315	SLC29A3	ORPHA:168569
HP:0100585	Telangiectasia of the skin	1616	DAXX	ORPHA:100075
HP:0100585	Telangiectasia of the skin	546	ATRX	ORPHA:100075
HP:0100585	Telangiectasia of the skin	80326	WNT10A	ORPHA:50944
HP:0100585	Telangiectasia of the skin	55275	VPS53	OMIM:615851
HP:0100585	Telangiectasia of the skin	545	ATR	OMIM:614564
HP:0100585	Telangiectasia of the skin	6392	SDHD	ORPHA:100093
HP:0100585	Telangiectasia of the skin	10093	ARPC4	OMIM:620141
HP:0100585	Telangiectasia of the skin	79158	GNPTAB	ORPHA:576
HP:0100585	Telangiectasia of the skin	5426	POLE	OMIM:615139
HP:0100585	Telangiectasia of the skin	831	CAST	OMIM:616295
HP:0100585	Telangiectasia of the skin	81031	SLC2A10	OMIM:208050
HP:0100585	Telangiectasia of the skin	2542	SLC37A4	OMIM:232240
HP:0100585	Telangiectasia of the skin	5290	PIK3CA	ORPHA:276280
HP:0100585	Telangiectasia of the skin	5290	PIK3CA	ORPHA:60040
HP:0100585	Telangiectasia of the skin	64840	PORCN	ORPHA:2092
HP:0100585	Telangiectasia of the skin	55699	IARS2	OMIM:616007
HP:0100585	Telangiectasia of the skin	118429	ANTXR2	ORPHA:2176
HP:0100585	Telangiectasia of the skin	7518	XRCC4	ORPHA:99812
HP:0100585	Telangiectasia of the skin	3981	LIG4	ORPHA:99812
HP:0100585	Telangiectasia of the skin	1540	CYLD	ORPHA:867
HP:0100585	Telangiectasia of the skin	1540	CYLD	ORPHA:211
HP:0100585	Telangiectasia of the skin	7486	WRN	ORPHA:902
HP:0100585	Telangiectasia of the skin	1235	CCR6	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1235	CCR6	ORPHA:220393
HP:0100585	Telangiectasia of the skin	79932	KIAA0319L	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1490	CCN2	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1490	CCN2	ORPHA:220393
HP:0100585	Telangiectasia of the skin	3663	IRF5	ORPHA:220402
HP:0100585	Telangiectasia of the skin	3663	IRF5	ORPHA:220393
HP:0100585	Telangiectasia of the skin	857	CAV1	ORPHA:220402
HP:0100585	Telangiectasia of the skin	857	CAV1	ORPHA:220393
HP:0100585	Telangiectasia of the skin	3123	HLA-DRB1	ORPHA:220402
HP:0100585	Telangiectasia of the skin	3123	HLA-DRB1	ORPHA:220393
HP:0100585	Telangiectasia of the skin	11322	TMC6	ORPHA:302
HP:0100585	Telangiectasia of the skin	3574	IL7	ORPHA:302
HP:0100585	Telangiectasia of the skin	147138	TMC8	ORPHA:302
HP:0100585	Telangiectasia of the skin	10519	CIB1	ORPHA:302
HP:0100585	Telangiectasia of the skin	8517	IKBKG	ORPHA:464
HP:0100585	Telangiectasia of the skin	472	ATM	ORPHA:100
HP:0100585	Telangiectasia of the skin	63916	ELMO2	ORPHA:3019
HP:0100585	Telangiectasia of the skin	55612	FERMT1	OMIM:173650
HP:0100585	Telangiectasia of the skin	3815	KIT	ORPHA:79455
HP:0100585	Telangiectasia of the skin	2767	GNA11	ORPHA:1556
HP:0100585	Telangiectasia of the skin	151188	ARL6IP6	ORPHA:1556
HP:0100585	Telangiectasia of the skin	2658	GDF2	ORPHA:774
HP:0100585	Telangiectasia of the skin	4089	SMAD4	ORPHA:774
HP:0100585	Telangiectasia of the skin	2022	ENG	ORPHA:774
HP:0100585	Telangiectasia of the skin	2022	ENG	OMIM:187300
HP:0100585	Telangiectasia of the skin	4668	NAGA	ORPHA:79280
HP:0100585	Telangiectasia of the skin	4668	NAGA	ORPHA:79279
HP:0100585	Telangiectasia of the skin	4000	LMNA	OMIM:212112
HP:0100585	Telangiectasia of the skin	4000	LMNA	ORPHA:79474
HP:0100585	Telangiectasia of the skin	2717	GLA	ORPHA:324
HP:0100585	Telangiectasia of the skin	1281	COL3A1	ORPHA:286
HP:0100585	Telangiectasia of the skin	1281	COL3A1	ORPHA:2500
HP:0100585	Telangiectasia of the skin	5424	POLD1	OMIM:615381
HP:0100585	Telangiectasia of the skin	5111	PCNA	ORPHA:438134
HP:0100585	Telangiectasia of the skin	80169	CTC1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	26277	TINF2	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55651	NHP2	ORPHA:1775
HP:0100585	Telangiectasia of the skin	79650	USB1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55135	WRAP53	ORPHA:1775
HP:0100585	Telangiectasia of the skin	51750	RTEL1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	4869	NPM1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7012	TERC	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55505	NOP10	ORPHA:1775
HP:0100585	Telangiectasia of the skin	5073	PARN	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7015	TERT	ORPHA:1775
HP:0100585	Telangiectasia of the skin	1736	DKC1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7298	TYMS	ORPHA:1775
HP:0100585	Telangiectasia of the skin	5167	ENPP1	ORPHA:758
HP:0100585	Telangiectasia of the skin	368	ABCC6	ORPHA:758
HP:0100585	Telangiectasia of the skin	4763	NF1	ORPHA:97685
HP:0100585	Telangiectasia of the skin	2068	ERCC2	ORPHA:910
HP:0100585	Telangiectasia of the skin	7507	XPA	ORPHA:910
HP:0100585	Telangiectasia of the skin	2071	ERCC3	ORPHA:910
HP:0100585	Telangiectasia of the skin	7508	XPC	ORPHA:910
HP:0100585	Telangiectasia of the skin	1643	DDB2	ORPHA:910
HP:0100585	Telangiectasia of the skin	2072	ERCC4	ORPHA:910
HP:0100585	Telangiectasia of the skin	2073	ERCC5	ORPHA:910
HP:0100585	Telangiectasia of the skin	2859	GPR35	ORPHA:171
HP:0100585	Telangiectasia of the skin	10507	SEMA4D	ORPHA:171
HP:0100585	Telangiectasia of the skin	4485	MST1	ORPHA:171
HP:0100585	Telangiectasia of the skin	6925	TCF4	ORPHA:171
HP:0100585	Telangiectasia of the skin	3930	LBR	OMIM:613471
HP:0100587	Abnormal preputium morphology	55612	FERMT1	OMIM:173650
HP:0100587	Abnormal preputium morphology	55612	FERMT1	ORPHA:2908
HP:0100587	Abnormal preputium morphology	80152	CENPT	OMIM:618702
HP:0100587	Abnormal preputium morphology	25942	SIN3A	OMIM:613406
HP:0100587	Abnormal preputium morphology	10084	PQBP1	OMIM:309500
HP:0100587	Abnormal preputium morphology	55780	ERMARD	ORPHA:75857
HP:0100587	Abnormal preputium morphology	1736	DKC1	OMIM:305000
HP:0100587	Abnormal preputium morphology	10664	CTCF	ORPHA:363611
HP:0100587	Abnormal preputium morphology	64324	NSD1	ORPHA:821
HP:0100587	Abnormal preputium morphology	29072	SETD2	ORPHA:821
HP:0100587	Abnormal preputium morphology	10297	APC2	ORPHA:821
HP:0100587	Abnormal preputium morphology	10046	MAMLD1	ORPHA:95706
HP:0100587	Abnormal preputium morphology	367	AR	ORPHA:95706
HP:0100587	Abnormal preputium morphology	672	BRCA1	ORPHA:84
HP:0100587	Abnormal preputium morphology	10459	MAD2L2	ORPHA:84
HP:0100587	Abnormal preputium morphology	7516	XRCC2	ORPHA:84
HP:0100587	Abnormal preputium morphology	29089	UBE2T	ORPHA:84
HP:0100587	Abnormal preputium morphology	675	BRCA2	ORPHA:84
HP:0100587	Abnormal preputium morphology	55120	FANCL	ORPHA:84
HP:0100587	Abnormal preputium morphology	2177	FANCD2	ORPHA:84
HP:0100587	Abnormal preputium morphology	2175	FANCA	ORPHA:84
HP:0100587	Abnormal preputium morphology	2187	FANCB	ORPHA:84
HP:0100587	Abnormal preputium morphology	2176	FANCC	ORPHA:84
HP:0100587	Abnormal preputium morphology	2178	FANCE	ORPHA:84
HP:0100587	Abnormal preputium morphology	2188	FANCF	ORPHA:84
HP:0100587	Abnormal preputium morphology	2189	FANCG	ORPHA:84
HP:0100587	Abnormal preputium morphology	5888	RAD51	ORPHA:84
HP:0100587	Abnormal preputium morphology	5889	RAD51C	ORPHA:84
HP:0100587	Abnormal preputium morphology	55159	RFWD3	ORPHA:84
HP:0100587	Abnormal preputium morphology	83990	BRIP1	ORPHA:84
HP:0100587	Abnormal preputium morphology	57697	FANCM	ORPHA:84
HP:0100587	Abnormal preputium morphology	79728	PALB2	ORPHA:84
HP:0100587	Abnormal preputium morphology	84464	SLX4	ORPHA:84
HP:0100587	Abnormal preputium morphology	2072	ERCC4	ORPHA:84
HP:0100587	Abnormal preputium morphology	55215	FANCI	ORPHA:84
HP:0100589	Urogenital fistula	9361	LONP1	OMIM:600373
HP:0100589	Urogenital fistula	57167	SALL4	OMIM:147750
HP:0100589	Urogenital fistula	57167	SALL4	ORPHA:2307
HP:0100589	Urogenital fistula	92002	CCNQ	OMIM:300707
HP:0100589	Urogenital fistula	8195	MKKS	OMIM:236700
HP:0100589	Urogenital fistula	3588	IL10RB	OMIM:612567
HP:0100589	Urogenital fistula	3110	MNX1	OMIM:176450
HP:0100589	Urogenital fistula	26123	TCTN3	ORPHA:2753
HP:0100589	Urogenital fistula	10653	SPINT2	OMIM:270420
HP:0100589	Urogenital fistula	84172	POLR1B	ORPHA:861
HP:0100589	Urogenital fistula	9533	POLR1C	ORPHA:861
HP:0100589	Urogenital fistula	51082	POLR1D	ORPHA:861
HP:0100589	Urogenital fistula	6949	TCOF1	ORPHA:861
HP:0100589	Urogenital fistula	9401	RECQL4	OMIM:218600
HP:0100589	Urogenital fistula	197131	UBR1	OMIM:243800
HP:0100589	Urogenital fistula	6299	SALL1	OMIM:107480
HP:0100589	Urogenital fistula	6299	SALL1	ORPHA:857
HP:0100589	Urogenital fistula	267010	RNU12	OMIM:603116
HP:0100589	Urogenital fistula	374654	KIF7	OMIM:200990
HP:0100589	Urogenital fistula	51339	DACT1	OMIM:617466
HP:0100589	Urogenital fistula	51339	DACT1	ORPHA:857
HP:0100589	Urogenital fistula	1642	DDB1	OMIM:619426
HP:0100589	Urogenital fistula	3718	JAK3	ORPHA:35078
HP:0100589	Urogenital fistula	158326	FREM1	OMIM:608980
HP:0100589	Urogenital fistula	5297	PI4KA	OMIM:619708
HP:0100589	Urogenital fistula	5447	POR	OMIM:201750
HP:0100589	Urogenital fistula	7355	SLC35A2	OMIM:300896
HP:0100589	Urogenital fistula	6650	CAPN15	OMIM:619318
HP:0100589	Urogenital fistula	1024	CDK8	OMIM:618748
HP:0100589	Urogenital fistula	6850	SYK	OMIM:619381
HP:0100589	Urogenital fistula	4689	NCF4	OMIM:613960
HP:0100589	Urogenital fistula	2000	ELF4	OMIM:301074
HP:0100589	Urogenital fistula	917	CD3G	OMIM:615607
HP:0100589	Urogenital fistula	5317	PKP1	ORPHA:158668
HP:0100589	Urogenital fistula	7040	TGFB1	OMIM:618213
HP:0100589	Urogenital fistula	8085	KMT2D	OMIM:147920
HP:0100589	Urogenital fistula	7403	KDM6A	OMIM:147920
HP:0100589	Urogenital fistula	55112	DYNC2I1	ORPHA:93271
HP:0100589	Urogenital fistula	57560	IFT80	ORPHA:93271
HP:0100589	Urogenital fistula	57539	WDR35	ORPHA:93271
HP:0100589	Urogenital fistula	79659	DYNC2H1	ORPHA:93271
HP:0100589	Urogenital fistula	89891	DYNC2I2	ORPHA:93271
HP:0100589	Urogenital fistula	23556	PIGN	ORPHA:280633
HP:0100589	Urogenital fistula	4281	MID1	OMIM:300000
HP:0100589	Urogenital fistula	134701	RIPPLY2	ORPHA:2311
HP:0100589	Urogenital fistula	10683	DLL3	ORPHA:2311
HP:0100589	Urogenital fistula	3955	LFNG	ORPHA:2311
HP:0100589	Urogenital fistula	84667	HES7	ORPHA:2311
HP:0100589	Urogenital fistula	145873	MESP2	ORPHA:2311
HP:0100589	Urogenital fistula	5979	RET	ORPHA:1848
HP:0100589	Urogenital fistula	8516	ITGA8	ORPHA:1848
HP:0100589	Urogenital fistula	26281	FGF20	ORPHA:1848
HP:0100589	Urogenital fistula	2674	GFRA1	ORPHA:1848
HP:0100589	Urogenital fistula	7484	WNT9B	ORPHA:1848
HP:0100589	Urogenital fistula	80000	GREB1L	ORPHA:1848
HP:0100589	Urogenital fistula	4952	OCRL	ORPHA:534
HP:0100589	Urogenital fistula	1794	DOCK2	OMIM:616433
HP:0011053	Agenesis of mandibular premolar	2260	FGFR1	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	4487	MSX1	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	128178	EDARADD	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	5083	PAX9	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	7341	SUMO1	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	80326	WNT10A	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	1896	EDA	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	8313	AXIN2	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	3664	IRF6	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	4040	LRP6	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	7039	TGFA	ORPHA:99798
HP:0011053	Agenesis of mandibular premolar	7480	WNT10B	ORPHA:99798
HP:0011051	Agenesis of premolar	2248	FGF3	ORPHA:2791
HP:0011051	Agenesis of premolar	2260	FGFR1	ORPHA:99798
HP:0011051	Agenesis of premolar	4487	MSX1	ORPHA:99798
HP:0011051	Agenesis of premolar	128178	EDARADD	ORPHA:99798
HP:0011051	Agenesis of premolar	5083	PAX9	ORPHA:99798
HP:0011051	Agenesis of premolar	7341	SUMO1	ORPHA:99798
HP:0011051	Agenesis of premolar	80326	WNT10A	ORPHA:99798
HP:0011051	Agenesis of premolar	1896	EDA	ORPHA:99798
HP:0011051	Agenesis of premolar	8313	AXIN2	ORPHA:99798
HP:0011051	Agenesis of premolar	3664	IRF6	ORPHA:99798
HP:0011051	Agenesis of premolar	4040	LRP6	ORPHA:99798
HP:0011051	Agenesis of premolar	7039	TGFA	ORPHA:99798
HP:0011051	Agenesis of premolar	7480	WNT10B	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	2260	FGFR1	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	4487	MSX1	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	128178	EDARADD	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	5083	PAX9	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	7341	SUMO1	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	80326	WNT10A	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	1896	EDA	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	8313	AXIN2	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	3664	IRF6	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	4040	LRP6	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	7039	TGFA	ORPHA:99798
HP:0011056	Agenesis of first permanent molar tooth	7480	WNT10B	ORPHA:99798
HP:0011055	Agenesis of permanent molar	2260	FGFR1	ORPHA:99798
HP:0011055	Agenesis of permanent molar	4487	MSX1	ORPHA:99798
HP:0011055	Agenesis of permanent molar	128178	EDARADD	ORPHA:99798
HP:0011055	Agenesis of permanent molar	5083	PAX9	ORPHA:99798
HP:0011055	Agenesis of permanent molar	7341	SUMO1	ORPHA:99798
HP:0011055	Agenesis of permanent molar	80326	WNT10A	ORPHA:99798
HP:0011055	Agenesis of permanent molar	1896	EDA	ORPHA:99798
HP:0011055	Agenesis of permanent molar	8313	AXIN2	ORPHA:99798
HP:0011055	Agenesis of permanent molar	3664	IRF6	ORPHA:99798
HP:0011055	Agenesis of permanent molar	4040	LRP6	ORPHA:99798
HP:0011055	Agenesis of permanent molar	7039	TGFA	ORPHA:99798
HP:0011055	Agenesis of permanent molar	7480	WNT10B	ORPHA:99798
HP:0011054	Agenesis of molar	6938	TCF12	OMIM:619718
HP:0011054	Agenesis of molar	2260	FGFR1	ORPHA:99798
HP:0011054	Agenesis of molar	4487	MSX1	ORPHA:99798
HP:0011054	Agenesis of molar	128178	EDARADD	ORPHA:99798
HP:0011054	Agenesis of molar	5083	PAX9	ORPHA:99798
HP:0011054	Agenesis of molar	7341	SUMO1	ORPHA:99798
HP:0011054	Agenesis of molar	80326	WNT10A	ORPHA:99798
HP:0011054	Agenesis of molar	1896	EDA	ORPHA:99798
HP:0011054	Agenesis of molar	8313	AXIN2	ORPHA:99798
HP:0011054	Agenesis of molar	3664	IRF6	ORPHA:99798
HP:0011054	Agenesis of molar	4040	LRP6	ORPHA:99798
HP:0011054	Agenesis of molar	7039	TGFA	ORPHA:99798
HP:0011054	Agenesis of molar	7480	WNT10B	ORPHA:99798
HP:0031473	Hostility	3064	HTT	ORPHA:399
HP:0031473	Hostility	6515	SLC2A3	ORPHA:399
HP:0031473	Hostility	4204	MECP2	OMIM:300260
HP:0031475	Status epilepticus without prominent motor symptoms	1759	DNM1	OMIM:616346
HP:0031475	Status epilepticus without prominent motor symptoms	4221	MEN1	ORPHA:652
HP:0031475	Status epilepticus without prominent motor symptoms	1027	CDKN1B	ORPHA:652
HP:0031475	Status epilepticus without prominent motor symptoms	1026	CDKN1A	ORPHA:652
HP:0031475	Status epilepticus without prominent motor symptoms	1030	CDKN2B	ORPHA:652
HP:0031475	Status epilepticus without prominent motor symptoms	1031	CDKN2C	ORPHA:652
HP:0031475	Status epilepticus without prominent motor symptoms	6335	SCN9A	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	112755	STX1B	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	2563	GABRD	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	6326	SCN2A	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	6323	SCN1A	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	6324	SCN1B	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	348980	HCN1	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	84059	ADGRV1	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	2566	GABRG2	ORPHA:36387
HP:0031475	Status epilepticus without prominent motor symptoms	1106	CHD2	OMIM:615369
HP:0031475	Status epilepticus without prominent motor symptoms	6506	SLC1A2	OMIM:617105
HP:0031475	Status epilepticus without prominent motor symptoms	54982	CLN6	OMIM:204300
HP:0031475	Status epilepticus without prominent motor symptoms	3192	HNRNPU	OMIM:617391
HP:0031475	Status epilepticus without prominent motor symptoms	2554	GABRA1	ORPHA:33069
HP:0031475	Status epilepticus without prominent motor symptoms	57526	PCDH19	ORPHA:33069
HP:0031475	Status epilepticus without prominent motor symptoms	135	ADORA2A	ORPHA:363549
HP:0031475	Status epilepticus without prominent motor symptoms	4953	ODC1	ORPHA:544488
HP:0031475	Status epilepticus without prominent motor symptoms	2903	GRIN2A	ORPHA:98818
HP:0031475	Status epilepticus without prominent motor symptoms	5428	POLG	OMIM:203700
HP:0008000	Decreased corneal reflex	3977	LIFR	ORPHA:3206
HP:0008000	Decreased corneal reflex	85446	ZFHX2	OMIM:147430
HP:0008000	Decreased corneal reflex	8518	ELP1	OMIM:223900
HP:0008000	Decreased corneal reflex	4914	NTRK1	ORPHA:642
HP:0008000	Decreased corneal reflex	54463	RETREG1	OMIM:201300
HP:0008000	Decreased corneal reflex	65125	WNK1	OMIM:201300
HP:0008000	Decreased corneal reflex	6335	SCN9A	OMIM:201300
HP:0008000	Decreased corneal reflex	547	KIF1A	OMIM:201300
HP:0008000	Decreased corneal reflex	440138	ALG11	ORPHA:280071
HP:0008000	Decreased corneal reflex	8218	CLTCL1	ORPHA:453510
HP:0008001	Foveal hyperpigmentation	146167	SLC38A8	OMIM:609218
HP:0008001	Foveal hyperpigmentation	3617	IMPG1	OMIM:153870
HP:0008001	Foveal hyperpigmentation	1495	CTNNA1	OMIM:608970
HP:0008001	Foveal hyperpigmentation	9364	RAB28	OMIM:615374
HP:0008002	Abnormality of macular pigmentation	9227	LRAT	ORPHA:364055
HP:0008002	Abnormality of macular pigmentation	55812	SPATA7	ORPHA:364055
HP:0008002	Abnormality of macular pigmentation	6121	RPE65	ORPHA:364055
HP:0008002	Abnormality of macular pigmentation	167691	LCA5	ORPHA:364055
HP:0008002	Abnormality of macular pigmentation	1121	CHM	OMIM:303100
HP:0008002	Abnormality of macular pigmentation	80173	IFT74	OMIM:617119
HP:0008002	Abnormality of macular pigmentation	64802	NMNAT1	OMIM:608553
HP:0008002	Abnormality of macular pigmentation	4157	MC1R	ORPHA:79432
HP:0008002	Abnormality of macular pigmentation	4948	OCA2	ORPHA:79432
HP:0008002	Abnormality of macular pigmentation	146167	SLC38A8	OMIM:609218
HP:0008002	Abnormality of macular pigmentation	3617	IMPG1	OMIM:153870
HP:0008002	Abnormality of macular pigmentation	1495	CTNNA1	OMIM:608970
HP:0008002	Abnormality of macular pigmentation	9364	RAB28	OMIM:615374
HP:0008002	Abnormality of macular pigmentation	778	CACNA1F	OMIM:300476
HP:0008002	Abnormality of macular pigmentation	1001	CDH3	ORPHA:1573
HP:0008002	Abnormality of macular pigmentation	25974	MMACHC	ORPHA:79282
HP:0008002	Abnormality of macular pigmentation	8842	PROM1	ORPHA:827
HP:0008002	Abnormality of macular pigmentation	5961	PRPH2	ORPHA:827
HP:0008002	Abnormality of macular pigmentation	6785	ELOVL4	ORPHA:827
HP:0008002	Abnormality of macular pigmentation	24	ABCA4	ORPHA:827
HP:0008002	Abnormality of macular pigmentation	54714	CNGB3	ORPHA:827
HP:0008002	Abnormality of macular pigmentation	5130	PCYT1A	OMIM:608940
HP:0008002	Abnormality of macular pigmentation	343035	RD3	OMIM:610612
HP:0008002	Abnormality of macular pigmentation	5956	OPN1LW	OMIM:303700
HP:0008002	Abnormality of macular pigmentation	2652	OPN1MW	OMIM:303700
HP:0008002	Abnormality of macular pigmentation	256471	MFSD8	OMIM:616170
HP:0008002	Abnormality of macular pigmentation	83723	TLCD3B	OMIM:619531
HP:0008002	Abnormality of macular pigmentation	22999	RIMS1	OMIM:603649
HP:0008002	Abnormality of macular pigmentation	4117	MAK	OMIM:614181
HP:0008002	Abnormality of macular pigmentation	84839	RAX2	OMIM:610381
HP:0008002	Abnormality of macular pigmentation	3035	HARS1	OMIM:614504
HP:0008002	Abnormality of macular pigmentation	1201	CLN3	ORPHA:228346
HP:0008002	Abnormality of macular pigmentation	54499	TMCO1	OMIM:213980
HP:0008002	Abnormality of macular pigmentation	6102	RP2	OMIM:312600
HP:0008002	Abnormality of macular pigmentation	54675	CRLS1	OMIM:620167
HP:0008002	Abnormality of macular pigmentation	3614	IMPDH1	OMIM:180105
HP:0008002	Abnormality of macular pigmentation	157680	VPS13B	OMIM:216550
HP:0008002	Abnormality of macular pigmentation	2202	EFEMP1	ORPHA:75376
HP:0008002	Abnormality of macular pigmentation	3075	CFH	ORPHA:75376
HP:0008002	Abnormality of macular pigmentation	3426	CFI	ORPHA:75376
HP:0008002	Abnormality of macular pigmentation	103	ADAR	ORPHA:41
HP:0008002	Abnormality of macular pigmentation	1406	CRX	OMIM:120970
HP:0008002	Abnormality of macular pigmentation	5076	PAX2	OMIM:120330
HP:0008002	Abnormality of macular pigmentation	348	APOE	OMIM:603075
HP:0008002	Abnormality of macular pigmentation	83872	HMCN1	OMIM:603075
HP:0008002	Abnormality of macular pigmentation	3078	CFHR1	OMIM:603075
HP:0008002	Abnormality of macular pigmentation	10878	CFHR3	OMIM:603075
HP:0008002	Abnormality of macular pigmentation	157657	CFAP418	OMIM:614500
HP:0008003	Jerky ocular pursuit movements	16	AARS1	OMIM:619691
HP:0008003	Jerky ocular pursuit movements	146057	TTBK2	OMIM:604432
HP:0008003	Jerky ocular pursuit movements	146057	TTBK2	ORPHA:98767
HP:0008003	Jerky ocular pursuit movements	3748	KCNC3	OMIM:605259
HP:0008003	Jerky ocular pursuit movements	3748	KCNC3	ORPHA:98768
HP:0008003	Jerky ocular pursuit movements	23646	PLD3	OMIM:617770
HP:0008003	Jerky ocular pursuit movements	5621	PRNP	ORPHA:157941
HP:0008003	Jerky ocular pursuit movements	6712	SPTBN2	OMIM:615386
HP:0008003	Jerky ocular pursuit movements	6712	SPTBN2	ORPHA:352403
HP:0008003	Jerky ocular pursuit movements	54834	GDAP2	OMIM:618369
HP:0008003	Jerky ocular pursuit movements	57704	GBA2	ORPHA:320391
HP:0008003	Jerky ocular pursuit movements	57704	GBA2	OMIM:614409
HP:0008003	Jerky ocular pursuit movements	23345	SYNE1	OMIM:610743
HP:0007856	Punctate opacification of the cornea	285440	CYP4V2	ORPHA:41751
HP:0007856	Punctate opacification of the cornea	29914	UBIAD1	OMIM:121800
HP:0007856	Punctate opacification of the cornea	3859	KRT12	OMIM:122100
HP:0007856	Punctate opacification of the cornea	4166	CHST6	ORPHA:98969
HP:0007856	Punctate opacification of the cornea	4166	CHST6	OMIM:217800
HP:0007856	Punctate opacification of the cornea	5696	PSMB8	OMIM:256040
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:217400
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:217700
HP:0001131	Corneal dystrophy	83959	SLC4A11	ORPHA:1490
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:613268
HP:0001131	Corneal dystrophy	4166	CHST6	OMIM:217800
HP:0001131	Corneal dystrophy	6935	ZEB1	OMIM:613270
HP:0001131	Corneal dystrophy	6935	ZEB1	OMIM:609141
HP:0001131	Corneal dystrophy	2717	GLA	OMIM:301500
HP:0001131	Corneal dystrophy	2717	GLA	ORPHA:324
HP:0001131	Corneal dystrophy	4070	TACSTD2	OMIM:204870
HP:0001131	Corneal dystrophy	1296	COL8A2	OMIM:609140
HP:0001131	Corneal dystrophy	1296	COL8A2	OMIM:136800
HP:0001131	Corneal dystrophy	1634	DCN	OMIM:610048
HP:0001131	Corneal dystrophy	29914	UBIAD1	OMIM:121800
HP:0001131	Corneal dystrophy	1308	COL17A1	ORPHA:293381
HP:0001131	Corneal dystrophy	291	SLC25A4	ORPHA:1369
HP:0001131	Corneal dystrophy	26007	TKFC	ORPHA:1369
HP:0001131	Corneal dystrophy	55750	AGK	ORPHA:1369
HP:0001131	Corneal dystrophy	2776	GNAQ	ORPHA:3205
HP:0001131	Corneal dystrophy	51360	MBTPS2	OMIM:308800
HP:0001131	Corneal dystrophy	2652	OPN1MW	ORPHA:16
HP:0001131	Corneal dystrophy	5956	OPN1LW	ORPHA:16
HP:0001131	Corneal dystrophy	23404	EXOSC2	OMIM:617763
HP:0001131	Corneal dystrophy	3859	KRT12	OMIM:122100
HP:0001131	Corneal dystrophy	123624	AGBL1	OMIM:615523
HP:0001131	Corneal dystrophy	4591	TRIM37	OMIM:253250
HP:0001131	Corneal dystrophy	2703	GJA8	ORPHA:1377
HP:0001131	Corneal dystrophy	4094	MAF	ORPHA:1377
HP:0001131	Corneal dystrophy	1413	CRYBA4	ORPHA:1377
HP:0001131	Corneal dystrophy	1409	CRYAA	ORPHA:1377
HP:0001131	Corneal dystrophy	1415	CRYBB2	ORPHA:1377
HP:0001131	Corneal dystrophy	1414	CRYBB1	ORPHA:1377
HP:0001131	Corneal dystrophy	1420	CRYGC	ORPHA:1377
HP:0001131	Corneal dystrophy	1421	CRYGD	ORPHA:1377
HP:0001131	Corneal dystrophy	11107	PRDM5	ORPHA:90354
HP:0001131	Corneal dystrophy	84627	ZNF469	ORPHA:90354
HP:0001131	Corneal dystrophy	2934	GSN	ORPHA:85448
HP:0001131	Corneal dystrophy	2934	GSN	OMIM:105120
HP:0001131	Corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0001131	Corneal dystrophy	7045	TGFBI	ORPHA:98963
HP:0001131	Corneal dystrophy	91851	CHRDL1	OMIM:309300
HP:0001131	Corneal dystrophy	285440	CYP4V2	OMIM:210370
HP:0001131	Corneal dystrophy	200576	PIKFYVE	OMIM:121850
HP:0000617	Abnormality of ocular smooth pursuit	2782	GNB1	OMIM:616973
HP:0000617	Abnormality of ocular smooth pursuit	4361	MRE11	ORPHA:251347
HP:0000617	Abnormality of ocular smooth pursuit	51259	TMEM216	OMIM:608091
HP:0000617	Abnormality of ocular smooth pursuit	56623	INPP5E	OMIM:213300
HP:0000617	Abnormality of ocular smooth pursuit	255928	SYT14	ORPHA:284271
HP:0000617	Abnormality of ocular smooth pursuit	5621	PRNP	ORPHA:157941
HP:0000617	Abnormality of ocular smooth pursuit	55703	POLR3B	OMIM:607694
HP:0000617	Abnormality of ocular smooth pursuit	11128	POLR3A	OMIM:607694
HP:0000617	Abnormality of ocular smooth pursuit	11128	POLR3A	ORPHA:447896
HP:0000617	Abnormality of ocular smooth pursuit	5981	RFC1	OMIM:614575
HP:0000617	Abnormality of ocular smooth pursuit	4287	ATXN3	OMIM:109150
HP:0000617	Abnormality of ocular smooth pursuit	1938	EEF2	OMIM:609306
HP:0000617	Abnormality of ocular smooth pursuit	1938	EEF2	ORPHA:101112
HP:0000617	Abnormality of ocular smooth pursuit	6310	ATXN1	OMIM:164400
HP:0000617	Abnormality of ocular smooth pursuit	6311	ATXN2	OMIM:183090
HP:0000617	Abnormality of ocular smooth pursuit	6812	STXBP1	OMIM:612164
HP:0000617	Abnormality of ocular smooth pursuit	1200	TPP1	ORPHA:284324
HP:0000617	Abnormality of ocular smooth pursuit	1200	TPP1	OMIM:609270
HP:0000617	Abnormality of ocular smooth pursuit	55129	ANO10	ORPHA:284289
HP:0000617	Abnormality of ocular smooth pursuit	8913	CACNA1G	ORPHA:458803
HP:0000617	Abnormality of ocular smooth pursuit	8913	CACNA1G	OMIM:616795
HP:0000617	Abnormality of ocular smooth pursuit	10273	STUB1	ORPHA:412057
HP:0000617	Abnormality of ocular smooth pursuit	7515	XRCC1	OMIM:617633
HP:0000617	Abnormality of ocular smooth pursuit	23533	PIK3R5	ORPHA:64753
HP:0000617	Abnormality of ocular smooth pursuit	23064	SETX	ORPHA:64753
HP:0000617	Abnormality of ocular smooth pursuit	23064	SETX	OMIM:606002
HP:0000617	Abnormality of ocular smooth pursuit	57679	ALS2	OMIM:606353
HP:0000617	Abnormality of ocular smooth pursuit	7345	UCHL1	OMIM:620221
HP:0000617	Abnormality of ocular smooth pursuit	3752	KCND3	OMIM:607346
HP:0000617	Abnormality of ocular smooth pursuit	23203	PMPCA	OMIM:213200
HP:0000617	Abnormality of ocular smooth pursuit	57410	SCYL1	ORPHA:466794
HP:0000617	Abnormality of ocular smooth pursuit	5582	PRKCG	ORPHA:98763
HP:0000617	Abnormality of ocular smooth pursuit	773	CACNA1A	OMIM:108500
HP:0000617	Abnormality of ocular smooth pursuit	1822	ATN1	ORPHA:101
HP:0000617	Abnormality of ocular smooth pursuit	2332	FMR1	OMIM:300623
HP:0000617	Abnormality of ocular smooth pursuit	81790	RNF170	OMIM:619686
HP:0000617	Abnormality of ocular smooth pursuit	10935	PRDX3	OMIM:619862
HP:0000617	Abnormality of ocular smooth pursuit	23503	ZFYVE26	ORPHA:100996
HP:0000617	Abnormality of ocular smooth pursuit	54664	TMEM106B	OMIM:617964
HP:0000617	Abnormality of ocular smooth pursuit	80208	SPG11	ORPHA:2822
HP:0000617	Abnormality of ocular smooth pursuit	2705	GJB1	ORPHA:1175
HP:0000617	Abnormality of ocular smooth pursuit	492	ATP2B3	ORPHA:314978
HP:0000617	Abnormality of ocular smooth pursuit	9711	RUBCN	OMIM:615705
HP:0000617	Abnormality of ocular smooth pursuit	9711	RUBCN	ORPHA:404499
HP:0000617	Abnormality of ocular smooth pursuit	6904	TBCD	ORPHA:496641
HP:0000617	Abnormality of ocular smooth pursuit	6904	TBCD	OMIM:617193
HP:0000617	Abnormality of ocular smooth pursuit	8818	DPM2	ORPHA:329178
HP:0000617	Abnormality of ocular smooth pursuit	5917	RARS1	OMIM:616140
HP:0000617	Abnormality of ocular smooth pursuit	5917	RARS1	ORPHA:438114
HP:0000617	Abnormality of ocular smooth pursuit	55157	DARS2	ORPHA:137898
HP:0000617	Abnormality of ocular smooth pursuit	6908	TBP	OMIM:607136
HP:0000617	Abnormality of ocular smooth pursuit	3708	ITPR1	OMIM:606658
HP:0000617	Abnormality of ocular smooth pursuit	7518	XRCC4	OMIM:616541
HP:0000617	Abnormality of ocular smooth pursuit	4125	MAN2B1	OMIM:248500
HP:0000617	Abnormality of ocular smooth pursuit	23345	SYNE1	ORPHA:88644
HP:0000617	Abnormality of ocular smooth pursuit	54974	THG1L	OMIM:618800
HP:0000617	Abnormality of ocular smooth pursuit	283989	TSEN54	OMIM:277470
HP:0000617	Abnormality of ocular smooth pursuit	5048	PAFAH1B1	ORPHA:95232
HP:0000617	Abnormality of ocular smooth pursuit	724066	ATXN8	ORPHA:98760
HP:0000617	Abnormality of ocular smooth pursuit	724066	ATXN8	OMIM:608768
HP:0000617	Abnormality of ocular smooth pursuit	6315	ATXN8OS	ORPHA:98760
HP:0000617	Abnormality of ocular smooth pursuit	6315	ATXN8OS	OMIM:608768
HP:0000617	Abnormality of ocular smooth pursuit	25814	ATXN10	ORPHA:98761
HP:0000617	Abnormality of ocular smooth pursuit	25814	ATXN10	OMIM:603516
HP:0000617	Abnormality of ocular smooth pursuit	5162	PDHB	ORPHA:255138
HP:0000617	Abnormality of ocular smooth pursuit	2512	FTL	ORPHA:157846
HP:0000617	Abnormality of ocular smooth pursuit	6712	SPTBN2	OMIM:600224
HP:0000617	Abnormality of ocular smooth pursuit	10528	NOP56	OMIM:614153
HP:0000617	Abnormality of ocular smooth pursuit	5192	PEX10	OMIM:614871
HP:0000617	Abnormality of ocular smooth pursuit	5192	PEX10	ORPHA:247815
HP:0000617	Abnormality of ocular smooth pursuit	10352	WARS2	ORPHA:572798
HP:0000617	Abnormality of ocular smooth pursuit	2259	FGF14	OMIM:193003
HP:0000617	Abnormality of ocular smooth pursuit	3781	KCNN2	OMIM:619724
HP:0000617	Abnormality of ocular smooth pursuit	7287	TULP1	OMIM:613843
HP:0000617	Abnormality of ocular smooth pursuit	8398	PLA2G6	OMIM:610217
HP:0000617	Abnormality of ocular smooth pursuit	6785	ELOVL4	OMIM:133190
HP:0000617	Abnormality of ocular smooth pursuit	26278	SACS	OMIM:270550
HP:0000617	Abnormality of ocular smooth pursuit	3703	STT3A	ORPHA:370921
HP:0000617	Abnormality of ocular smooth pursuit	339453	TMEM240	OMIM:607454
HP:0000617	Abnormality of ocular smooth pursuit	16	AARS1	OMIM:619691
HP:0000617	Abnormality of ocular smooth pursuit	146057	TTBK2	OMIM:604432
HP:0000617	Abnormality of ocular smooth pursuit	146057	TTBK2	ORPHA:98767
HP:0000617	Abnormality of ocular smooth pursuit	3748	KCNC3	OMIM:605259
HP:0000617	Abnormality of ocular smooth pursuit	3748	KCNC3	ORPHA:98768
HP:0000617	Abnormality of ocular smooth pursuit	23646	PLD3	OMIM:617770
HP:0000617	Abnormality of ocular smooth pursuit	54834	GDAP2	OMIM:618369
HP:0000617	Abnormality of ocular smooth pursuit	57704	GBA2	ORPHA:320391
HP:0000617	Abnormality of ocular smooth pursuit	57704	GBA2	OMIM:614409
HP:0100590	Rectal fistula	9361	LONP1	OMIM:600373
HP:0100590	Rectal fistula	57167	SALL4	OMIM:147750
HP:0100590	Rectal fistula	57167	SALL4	ORPHA:2307
HP:0100590	Rectal fistula	92002	CCNQ	OMIM:300707
HP:0100590	Rectal fistula	8195	MKKS	OMIM:236700
HP:0100590	Rectal fistula	3588	IL10RB	OMIM:612567
HP:0100590	Rectal fistula	3110	MNX1	OMIM:176450
HP:0100590	Rectal fistula	26123	TCTN3	ORPHA:2753
HP:0100590	Rectal fistula	10653	SPINT2	OMIM:270420
HP:0100590	Rectal fistula	84172	POLR1B	ORPHA:861
HP:0100590	Rectal fistula	9533	POLR1C	ORPHA:861
HP:0100590	Rectal fistula	51082	POLR1D	ORPHA:861
HP:0100590	Rectal fistula	6949	TCOF1	ORPHA:861
HP:0100590	Rectal fistula	9401	RECQL4	OMIM:218600
HP:0100590	Rectal fistula	197131	UBR1	OMIM:243800
HP:0100590	Rectal fistula	6299	SALL1	OMIM:107480
HP:0100590	Rectal fistula	6299	SALL1	ORPHA:857
HP:0100590	Rectal fistula	267010	RNU12	OMIM:603116
HP:0100590	Rectal fistula	374654	KIF7	OMIM:200990
HP:0100590	Rectal fistula	51339	DACT1	OMIM:617466
HP:0100590	Rectal fistula	51339	DACT1	ORPHA:857
HP:0100590	Rectal fistula	1642	DDB1	OMIM:619426
HP:0100590	Rectal fistula	3718	JAK3	ORPHA:35078
HP:0100590	Rectal fistula	158326	FREM1	OMIM:608980
HP:0100590	Rectal fistula	5297	PI4KA	OMIM:619708
HP:0100590	Rectal fistula	1024	CDK8	OMIM:618748
HP:0100590	Rectal fistula	23556	PIGN	ORPHA:280633
HP:0100590	Rectal fistula	4281	MID1	OMIM:300000
HP:0100590	Rectal fistula	1794	DOCK2	OMIM:616433
HP:0100592	Peritoneal abscess	672	BRCA1	ORPHA:1333
HP:0100592	Peritoneal abscess	285282	RABL3	ORPHA:1333
HP:0100592	Peritoneal abscess	7157	TP53	ORPHA:1333
HP:0100592	Peritoneal abscess	675	BRCA2	ORPHA:1333
HP:0100592	Peritoneal abscess	3845	KRAS	ORPHA:1333
HP:0100592	Peritoneal abscess	1029	CDKN2A	ORPHA:1333
HP:0100592	Peritoneal abscess	79728	PALB2	ORPHA:1333
HP:0100592	Peritoneal abscess	4089	SMAD4	ORPHA:1333
HP:0100592	Peritoneal abscess	23022	PALLD	ORPHA:1333
HP:0100592	Peritoneal abscess	5297	PI4KA	ORPHA:436252
HP:0100592	Peritoneal abscess	57217	TTC7A	ORPHA:436252
HP:0100593	Calcification of cartilage	5828	PEX2	OMIM:614866
HP:0100593	Calcification of cartilage	5830	PEX5	OMIM:214110
HP:0100593	Calcification of cartilage	26137	ZBTB20	OMIM:259050
HP:0100593	Calcification of cartilage	26137	ZBTB20	ORPHA:3042
HP:0100593	Calcification of cartilage	4256	MGP	OMIM:245150
HP:0100593	Calcification of cartilage	5167	ENPP1	ORPHA:51608
HP:0100593	Calcification of cartilage	368	ABCC6	ORPHA:51608
HP:0100593	Calcification of cartilage	3930	LBR	OMIM:215140
HP:0100593	Calcification of cartilage	1836	SLC26A2	OMIM:222600
HP:0100593	Calcification of cartilage	3081	HGD	ORPHA:56
HP:0100593	Calcification of cartilage	4921	DDR2	OMIM:271665
HP:0100593	Calcification of cartilage	4982	TNFRSF11B	ORPHA:1416
HP:0100593	Calcification of cartilage	56172	ANKH	ORPHA:1416
HP:0100595	Camptocormia	111	ADCY5	OMIM:606703
HP:0100595	Camptocormia	27235	COQ2	ORPHA:227510
HP:0100595	Camptocormia	27235	COQ2	ORPHA:98933
HP:0100595	Camptocormia	10463	SLC30A9	OMIM:617595
HP:0100596	Absent nares	5396	PRRX1	ORPHA:990
HP:0100596	Absent nares	5015	OTX2	ORPHA:990
HP:0100596	Absent nares	23347	SMCHD1	ORPHA:2250
HP:0100598	Pulmonary edema	10128	LRPPRC	OMIM:220111
HP:0100598	Pulmonary edema	137814	NKX2-6	ORPHA:3384
HP:0100598	Pulmonary edema	23129	PLXND1	ORPHA:3384
HP:0100598	Pulmonary edema	51422	PRKAG2	OMIM:261740
HP:0100598	Pulmonary edema	4607	MYBPC3	OMIM:115197
HP:0100598	Pulmonary edema	54914	FOCAD	OMIM:619991
HP:0100598	Pulmonary edema	8260	NAA10	OMIM:300855
HP:0100598	Pulmonary edema	4519	MT-CYB	ORPHA:137675
HP:0100598	Pulmonary edema	84665	MYPN	ORPHA:75249
HP:0100598	Pulmonary edema	2318	FLNC	ORPHA:75249
HP:0100598	Pulmonary edema	7139	TNNT2	ORPHA:75249
HP:0100598	Pulmonary edema	7137	TNNI3	ORPHA:75249
HP:0100598	Pulmonary edema	10112	KIF20A	ORPHA:75249
HP:0100598	Pulmonary edema	2492	FSHR	ORPHA:64739
HP:0100598	Pulmonary edema	7276	TTR	OMIM:105210
HP:0100598	Pulmonary edema	440275	EIF2AK4	ORPHA:199241
HP:0100598	Pulmonary edema	2050	EPHB4	OMIM:617300
HP:0100598	Pulmonary edema	3075	CFH	ORPHA:244242
HP:0100598	Pulmonary edema	3426	CFI	ORPHA:244242
HP:0100598	Pulmonary edema	4179	CD46	ORPHA:244242
HP:0100598	Pulmonary edema	101101692	HELLPAR	ORPHA:244242
HP:0100598	Pulmonary edema	7841	MOGS	ORPHA:79330
HP:0100598	Pulmonary edema	6440	SFTPC	ORPHA:70587
HP:0100598	Pulmonary edema	21	ABCA3	ORPHA:70587
HP:0100598	Pulmonary edema	6439	SFTPB	ORPHA:70587
HP:0008007	Primary congenital glaucoma	92949	ADAMTSL1	ORPHA:521445
HP:0008007	Primary congenital glaucoma	4010	LMX1B	ORPHA:2614
HP:0008007	Primary congenital glaucoma	4053	LTBP2	OMIM:600975
HP:0008007	Primary congenital glaucoma	4053	LTBP2	OMIM:613086
HP:0008007	Primary congenital glaucoma	7010	TEK	OMIM:600975
HP:0008007	Primary congenital glaucoma	1545	CYP1B1	OMIM:600975
HP:0008007	Primary congenital glaucoma	6223	RPS19	OMIM:105650
HP:0007663	Reduced visual acuity	1497	CTNS	OMIM:219800
HP:0007663	Reduced visual acuity	26121	PRPF31	OMIM:600138
HP:0007663	Reduced visual acuity	26121	PRPF31	ORPHA:791
HP:0007663	Reduced visual acuity	92840	REEP6	ORPHA:791
HP:0007663	Reduced visual acuity	6094	ROM1	ORPHA:791
HP:0007663	Reduced visual acuity	6017	RLBP1	ORPHA:791
HP:0007663	Reduced visual acuity	7401	CLRN1	ORPHA:791
HP:0007663	Reduced visual acuity	24	ABCA4	ORPHA:791
HP:0007663	Reduced visual acuity	582	BBS1	ORPHA:791
HP:0007663	Reduced visual acuity	92211	CDHR1	ORPHA:791
HP:0007663	Reduced visual acuity	23568	ARL2BP	ORPHA:791
HP:0007663	Reduced visual acuity	54806	AHI1	ORPHA:791
HP:0007663	Reduced visual acuity	6101	RP1	ORPHA:791
HP:0007663	Reduced visual acuity	3419	IDH3A	ORPHA:791
HP:0007663	Reduced visual acuity	4751	NEK2	ORPHA:791
HP:0007663	Reduced visual acuity	346007	EYS	ORPHA:791
HP:0007663	Reduced visual acuity	8100	IFT88	ORPHA:791
HP:0007663	Reduced visual acuity	23020	SNRNP200	ORPHA:791
HP:0007663	Reduced visual acuity	762	CA4	ORPHA:791
HP:0007663	Reduced visual acuity	138050	HGSNAT	ORPHA:791
HP:0007663	Reduced visual acuity	196	AHR	ORPHA:791
HP:0007663	Reduced visual acuity	123016	TTC8	ORPHA:791
HP:0007663	Reduced visual acuity	6103	RPGR	ORPHA:791
HP:0007663	Reduced visual acuity	5148	PDE6G	ORPHA:791
HP:0007663	Reduced visual acuity	26160	IFT172	ORPHA:791
HP:0007663	Reduced visual acuity	583	BBS2	ORPHA:791
HP:0007663	Reduced visual acuity	4117	MAK	ORPHA:791
HP:0007663	Reduced visual acuity	25794	FSCN2	ORPHA:791
HP:0007663	Reduced visual acuity	375298	CERKL	ORPHA:791
HP:0007663	Reduced visual acuity	3420	IDH3B	ORPHA:791
HP:0007663	Reduced visual acuity	57670	KIAA1549	ORPHA:791
HP:0007663	Reduced visual acuity	7275	TUB	ORPHA:791
HP:0007663	Reduced visual acuity	24148	PRPF6	ORPHA:791
HP:0007663	Reduced visual acuity	10461	MERTK	ORPHA:791
HP:0007663	Reduced visual acuity	57709	SLC7A14	ORPHA:791
HP:0007663	Reduced visual acuity	768206	PRCD	ORPHA:791
HP:0007663	Reduced visual acuity	7399	USH2A	ORPHA:791
HP:0007663	Reduced visual acuity	23370	ARHGEF18	ORPHA:791
HP:0007663	Reduced visual acuity	5949	RBP3	ORPHA:791
HP:0007663	Reduced visual acuity	6010	RHO	ORPHA:791
HP:0007663	Reduced visual acuity	6010	RHO	OMIM:613731
HP:0007663	Reduced visual acuity	6100	RP9	ORPHA:791
HP:0007663	Reduced visual acuity	10002	NR2E3	ORPHA:791
HP:0007663	Reduced visual acuity	84140	FAM161A	ORPHA:791
HP:0007663	Reduced visual acuity	55624	POMGNT1	ORPHA:791
HP:0007663	Reduced visual acuity	55624	POMGNT1	ORPHA:370959
HP:0007663	Reduced visual acuity	403	ARL3	ORPHA:791
HP:0007663	Reduced visual acuity	5145	PDE6A	ORPHA:791
HP:0007663	Reduced visual acuity	10210	TOPORS	ORPHA:791
HP:0007663	Reduced visual acuity	9128	PRPF4	ORPHA:791
HP:0007663	Reduced visual acuity	49855	SCAPER	ORPHA:791
HP:0007663	Reduced visual acuity	2979	GUCA1B	ORPHA:791
HP:0007663	Reduced visual acuity	1259	CNGA1	ORPHA:791
HP:0007663	Reduced visual acuity	1258	CNGB1	ORPHA:791
HP:0007663	Reduced visual acuity	60509	AGBL5	ORPHA:791
HP:0007663	Reduced visual acuity	5961	PRPH2	ORPHA:791
HP:0007663	Reduced visual acuity	388939	PCARE	ORPHA:791
HP:0007663	Reduced visual acuity	7439	BEST1	ORPHA:791
HP:0007663	Reduced visual acuity	7439	BEST1	OMIM:193220
HP:0007663	Reduced visual acuity	5995	RGR	ORPHA:791
HP:0007663	Reduced visual acuity	9129	PRPF3	ORPHA:791
HP:0007663	Reduced visual acuity	55975	KLHL7	ORPHA:791
HP:0007663	Reduced visual acuity	94137	RP1L1	ORPHA:791
HP:0007663	Reduced visual acuity	5158	PDE6B	ORPHA:791
HP:0007663	Reduced visual acuity	6102	RP2	ORPHA:791
HP:0007663	Reduced visual acuity	55857	KIZ	ORPHA:791
HP:0007663	Reduced visual acuity	64218	SEMA4A	ORPHA:791
HP:0007663	Reduced visual acuity	64218	SEMA4A	OMIM:610282
HP:0007663	Reduced visual acuity	4901	NRL	ORPHA:791
HP:0007663	Reduced visual acuity	4901	NRL	OMIM:613750
HP:0007663	Reduced visual acuity	157657	CFAP418	ORPHA:791
HP:0007663	Reduced visual acuity	157657	CFAP418	OMIM:617406
HP:0007663	Reduced visual acuity	10594	PRPF8	ORPHA:791
HP:0007663	Reduced visual acuity	84100	ARL6	ORPHA:791
HP:0007663	Reduced visual acuity	6295	SAG	ORPHA:791
HP:0007663	Reduced visual acuity	79947	DHDDS	ORPHA:791
HP:0007663	Reduced visual acuity	25915	NDUFAF3	ORPHA:2609
HP:0007663	Reduced visual acuity	51103	NDUFAF1	ORPHA:2609
HP:0007663	Reduced visual acuity	91942	NDUFAF2	ORPHA:2609
HP:0007663	Reduced visual acuity	51300	TIMMDC1	ORPHA:2609
HP:0007663	Reduced visual acuity	4716	NDUFB10	ORPHA:2609
HP:0007663	Reduced visual acuity	4723	NDUFV1	ORPHA:2609
HP:0007663	Reduced visual acuity	4723	NDUFV1	OMIM:618225
HP:0007663	Reduced visual acuity	55572	FOXRED1	ORPHA:2609
HP:0007663	Reduced visual acuity	284184	NDUFAF8	ORPHA:2609
HP:0007663	Reduced visual acuity	55863	TMEM126B	ORPHA:2609
HP:0007663	Reduced visual acuity	4535	MT-ND1	ORPHA:2609
HP:0007663	Reduced visual acuity	4537	MT-ND3	ORPHA:2609
HP:0007663	Reduced visual acuity	4729	NDUFV2	ORPHA:2609
HP:0007663	Reduced visual acuity	4694	NDUFA1	ORPHA:2609
HP:0007663	Reduced visual acuity	4720	NDUFS2	ORPHA:2609
HP:0007663	Reduced visual acuity	4724	NDUFS4	ORPHA:2609
HP:0007663	Reduced visual acuity	4724	NDUFS4	OMIM:252010
HP:0007663	Reduced visual acuity	4726	NDUFS6	ORPHA:2609
HP:0007663	Reduced visual acuity	4728	NDUFS8	ORPHA:2609
HP:0007663	Reduced visual acuity	4722	NDUFS3	ORPHA:2609
HP:0007663	Reduced visual acuity	79133	NDUFAF5	ORPHA:2609
HP:0007663	Reduced visual acuity	126328	NDUFA11	ORPHA:2609
HP:0007663	Reduced visual acuity	4709	NDUFB3	ORPHA:2609
HP:0007663	Reduced visual acuity	80224	NUBPL	ORPHA:2609
HP:0007663	Reduced visual acuity	29078	NDUFAF4	ORPHA:2609
HP:0007663	Reduced visual acuity	374291	NDUFS7	ORPHA:2609
HP:0007663	Reduced visual acuity	4700	NDUFA6	ORPHA:2609
HP:0007663	Reduced visual acuity	4536	MT-ND2	ORPHA:2609
HP:0007663	Reduced visual acuity	4719	NDUFS1	ORPHA:2609
HP:0007663	Reduced visual acuity	4715	NDUFB9	ORPHA:2609
HP:0007663	Reduced visual acuity	341640	FREM2	ORPHA:2052
HP:0007663	Reduced visual acuity	80144	FRAS1	ORPHA:2052
HP:0007663	Reduced visual acuity	80144	FRAS1	OMIM:219000
HP:0007663	Reduced visual acuity	23426	GRIP1	ORPHA:2052
HP:0007663	Reduced visual acuity	5351	PLOD1	OMIM:225400
HP:0007663	Reduced visual acuity	80207	OPA3	ORPHA:67036
HP:0007663	Reduced visual acuity	2778	GNAS	OMIM:174800
HP:0007663	Reduced visual acuity	51569	UFM1	OMIM:617899
HP:0007663	Reduced visual acuity	10312	TCIRG1	OMIM:259700
HP:0007663	Reduced visual acuity	54820	NDE1	ORPHA:2177
HP:0007663	Reduced visual acuity	5309	PITX3	OMIM:610623
HP:0007663	Reduced visual acuity	23126	POGZ	ORPHA:468678
HP:0007663	Reduced visual acuity	3073	HEXA	OMIM:272800
HP:0007663	Reduced visual acuity	6720	SREBF1	OMIM:158310
HP:0007663	Reduced visual acuity	4552	MTRR	OMIM:236270
HP:0007663	Reduced visual acuity	2581	GALC	ORPHA:206443
HP:0007663	Reduced visual acuity	2581	GALC	ORPHA:206436
HP:0007663	Reduced visual acuity	2581	GALC	OMIM:245200
HP:0007663	Reduced visual acuity	57465	TBC1D24	OMIM:220500
HP:0007663	Reduced visual acuity	478	ATP1A3	OMIM:601338
HP:0007663	Reduced visual acuity	3074	HEXB	OMIM:268800
HP:0007663	Reduced visual acuity	4221	MEN1	ORPHA:2965
HP:0007663	Reduced visual acuity	64072	CDH23	ORPHA:2965
HP:0007663	Reduced visual acuity	64072	CDH23	ORPHA:91347
HP:0007663	Reduced visual acuity	9049	AIP	ORPHA:2965
HP:0007663	Reduced visual acuity	9915	ARNT2	OMIM:615926
HP:0007663	Reduced visual acuity	443	ASPA	ORPHA:314911
HP:0007663	Reduced visual acuity	443	ASPA	OMIM:271900
HP:0007663	Reduced visual acuity	2720	GLB1	ORPHA:79255
HP:0007663	Reduced visual acuity	29954	POMT2	OMIM:236670
HP:0007663	Reduced visual acuity	29954	POMT2	ORPHA:370959
HP:0007663	Reduced visual acuity	9215	LARGE1	OMIM:236670
HP:0007663	Reduced visual acuity	79147	FKRP	OMIM:236670
HP:0007663	Reduced visual acuity	79147	FKRP	ORPHA:370959
HP:0007663	Reduced visual acuity	10585	POMT1	OMIM:236670
HP:0007663	Reduced visual acuity	10585	POMT1	ORPHA:370959
HP:0007663	Reduced visual acuity	2218	FKTN	OMIM:236670
HP:0007663	Reduced visual acuity	4942	OAT	ORPHA:414
HP:0007663	Reduced visual acuity	4942	OAT	OMIM:258870
HP:0007663	Reduced visual acuity	215	ABCD1	ORPHA:139396
HP:0007663	Reduced visual acuity	215	ABCD1	OMIM:300100
HP:0007663	Reduced visual acuity	22897	CEP164	OMIM:614845
HP:0007663	Reduced visual acuity	5631	PRPS1	ORPHA:1187
HP:0007663	Reduced visual acuity	5190	PEX6	ORPHA:95433
HP:0007663	Reduced visual acuity	9361	LONP1	ORPHA:79243
HP:0007663	Reduced visual acuity	5160	PDHA1	ORPHA:79243
HP:0007663	Reduced visual acuity	8398	PLA2G6	ORPHA:35069
HP:0007663	Reduced visual acuity	7840	ALMS1	OMIM:203800
HP:0007663	Reduced visual acuity	7840	ALMS1	ORPHA:64
HP:0007663	Reduced visual acuity	546	ATRX	ORPHA:847
HP:0007663	Reduced visual acuity	5428	POLG	ORPHA:726
HP:0007663	Reduced visual acuity	3913	LAMB2	OMIM:609049
HP:0007663	Reduced visual acuity	79583	TMEM231	ORPHA:2318
HP:0007663	Reduced visual acuity	51524	TMEM138	ORPHA:2318
HP:0007663	Reduced visual acuity	23090	ZNF423	ORPHA:2318
HP:0007663	Reduced visual acuity	51259	TMEM216	ORPHA:2318
HP:0007663	Reduced visual acuity	57545	CC2D2A	ORPHA:2318
HP:0007663	Reduced visual acuity	65062	TMEM237	ORPHA:2318
HP:0007663	Reduced visual acuity	7389	UROD	ORPHA:95159
HP:0007663	Reduced visual acuity	4508	MT-ATP6	OMIM:551500
HP:0007663	Reduced visual acuity	4508	MT-ATP6	ORPHA:644
HP:0007663	Reduced visual acuity	60	ACTB	ORPHA:79107
HP:0007663	Reduced visual acuity	1001	CDH3	OMIM:601553
HP:0007663	Reduced visual acuity	1001	CDH3	ORPHA:1573
HP:0007663	Reduced visual acuity	4547	MTTP	ORPHA:14
HP:0007663	Reduced visual acuity	652	BMP4	OMIM:607932
HP:0007663	Reduced visual acuity	114548	NLRP3	ORPHA:1451
HP:0007663	Reduced visual acuity	5230	PGK1	ORPHA:713
HP:0007663	Reduced visual acuity	4548	MTR	OMIM:250940
HP:0007663	Reduced visual acuity	4763	NF1	ORPHA:97685
HP:0007663	Reduced visual acuity	56244	BTNL2	ORPHA:797
HP:0007663	Reduced visual acuity	3123	HLA-DRB1	ORPHA:797
HP:0007663	Reduced visual acuity	28982	FLVCR1	OMIM:609033
HP:0007663	Reduced visual acuity	81794	ADAMTS10	OMIM:277600
HP:0007663	Reduced visual acuity	3028	HSD17B10	ORPHA:391428
HP:0007663	Reduced visual acuity	8260	NAA10	OMIM:309800
HP:0007663	Reduced visual acuity	54880	BCOR	OMIM:309800
HP:0007663	Reduced visual acuity	1280	COL2A1	OMIM:108300
HP:0007663	Reduced visual acuity	29925	GMPPB	ORPHA:370959
HP:0007663	Reduced visual acuity	84197	POMK	ORPHA:370959
HP:0007663	Reduced visual acuity	726	CAPN5	OMIM:193235
HP:0007663	Reduced visual acuity	11041	B4GAT1	OMIM:615287
HP:0007663	Reduced visual acuity	2232	FDXR	ORPHA:543470
HP:0007663	Reduced visual acuity	5627	PROS1	OMIM:614514
HP:0007663	Reduced visual acuity	5340	PLG	OMIM:217090
HP:0007663	Reduced visual acuity	256471	MFSD8	OMIM:610951
HP:0007663	Reduced visual acuity	2811	GP1BA	ORPHA:853
HP:0007663	Reduced visual acuity	2812	GP1BB	ORPHA:853
HP:0007663	Reduced visual acuity	3674	ITGA2B	ORPHA:853
HP:0007663	Reduced visual acuity	3673	ITGA2	ORPHA:853
HP:0007663	Reduced visual acuity	135228	CD109	ORPHA:853
HP:0007663	Reduced visual acuity	3690	ITGB3	ORPHA:853
HP:0007663	Reduced visual acuity	5296	PIK3R2	OMIM:603387
HP:0007663	Reduced visual acuity	10084	PQBP1	OMIM:309500
HP:0007663	Reduced visual acuity	80025	PANK2	ORPHA:216873
HP:0007663	Reduced visual acuity	80025	PANK2	ORPHA:216866
HP:0007663	Reduced visual acuity	5538	PPT1	OMIM:256730
HP:0007663	Reduced visual acuity	6389	SDHA	ORPHA:3208
HP:0007663	Reduced visual acuity	6390	SDHB	ORPHA:3208
HP:0007663	Reduced visual acuity	6392	SDHD	ORPHA:3208
HP:0007663	Reduced visual acuity	644096	SDHAF1	ORPHA:3208
HP:0007663	Reduced visual acuity	9928	KIF14	OMIM:617914
HP:0007663	Reduced visual acuity	91147	TMEM67	OMIM:610688
HP:0007663	Reduced visual acuity	5660	PSAP	ORPHA:206436
HP:0007663	Reduced visual acuity	2072	ERCC4	OMIM:610965
HP:0007663	Reduced visual acuity	6314	ATXN7	ORPHA:94147
HP:0007663	Reduced visual acuity	2776	GNAQ	ORPHA:3205
HP:0007663	Reduced visual acuity	1967	EIF2B1	OMIM:603896
HP:0007663	Reduced visual acuity	1186	CLCN7	ORPHA:53
HP:0007663	Reduced visual acuity	148789	B3GALNT2	OMIM:615181
HP:0007663	Reduced visual acuity	1387	CREBBP	OMIM:618332
HP:0007663	Reduced visual acuity	57647	DHX37	OMIM:618731
HP:0007663	Reduced visual acuity	80169	CTC1	OMIM:612199
HP:0007663	Reduced visual acuity	2706	GJB2	OMIM:148210
HP:0007663	Reduced visual acuity	6323	SCN1A	OMIM:609634
HP:0007663	Reduced visual acuity	7390	UROS	ORPHA:79277
HP:0007663	Reduced visual acuity	2623	GATA1	ORPHA:79277
HP:0007663	Reduced visual acuity	2760	GM2A	OMIM:272750
HP:0007663	Reduced visual acuity	8600	TNFSF11	OMIM:259710
HP:0007663	Reduced visual acuity	149233	IL23R	ORPHA:117
HP:0007663	Reduced visual acuity	6775	STAT4	ORPHA:117
HP:0007663	Reduced visual acuity	3586	IL10	ORPHA:117
HP:0007663	Reduced visual acuity	4210	MEFV	ORPHA:117
HP:0007663	Reduced visual acuity	1230	CCR1	ORPHA:117
HP:0007663	Reduced visual acuity	355	FAS	ORPHA:117
HP:0007663	Reduced visual acuity	3592	IL12A	ORPHA:117
HP:0007663	Reduced visual acuity	101928376	IL12A-AS1	ORPHA:117
HP:0007663	Reduced visual acuity	3106	HLA-B	ORPHA:117
HP:0007663	Reduced visual acuity	7099	TLR4	ORPHA:117
HP:0007663	Reduced visual acuity	3459	IFNGR1	ORPHA:117
HP:0007663	Reduced visual acuity	720	C4A	ORPHA:117
HP:0007663	Reduced visual acuity	337867	UBAC2	ORPHA:117
HP:0007663	Reduced visual acuity	51752	ERAP1	ORPHA:117
HP:0007663	Reduced visual acuity	8302	KLRC4	ORPHA:117
HP:0007663	Reduced visual acuity	64132	XYLT2	OMIM:605822
HP:0007663	Reduced visual acuity	7291	TWIST1	ORPHA:794
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:794
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:93260
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:207
HP:0007663	Reduced visual acuity	2261	FGFR3	ORPHA:794
HP:0007663	Reduced visual acuity	2261	FGFR3	OMIM:602849
HP:0007663	Reduced visual acuity	6095	RORA	OMIM:618060
HP:0007663	Reduced visual acuity	22827	PUF60	ORPHA:508498
HP:0007663	Reduced visual acuity	1409	CRYAA	OMIM:604219
HP:0007663	Reduced visual acuity	875	CBS	ORPHA:394
HP:0007663	Reduced visual acuity	23394	ADNP	ORPHA:404448
HP:0007663	Reduced visual acuity	9759	HDAC4	OMIM:619797
HP:0007663	Reduced visual acuity	8473	OGT	OMIM:300997
HP:0007663	Reduced visual acuity	2200	FBN1	ORPHA:1885
HP:0007663	Reduced visual acuity	54507	ADAMTSL4	ORPHA:1885
HP:0007663	Reduced visual acuity	6334	SCN8A	OMIM:614306
HP:0007663	Reduced visual acuity	22800	RRAS2	OMIM:618624
HP:0007663	Reduced visual acuity	3008	H1-4	OMIM:617537
HP:0007663	Reduced visual acuity	10992	SF3B2	OMIM:164210
HP:0007663	Reduced visual acuity	118987	PDZD8	OMIM:620021
HP:0007663	Reduced visual acuity	84570	COL25A1	ORPHA:91411
HP:0007663	Reduced visual acuity	79776	ZFHX4	ORPHA:91411
HP:0007663	Reduced visual acuity	27125	AFF4	ORPHA:444077
HP:0007663	Reduced visual acuity	4784	NFIX	ORPHA:447980
HP:0007663	Reduced visual acuity	80232	WDR26	ORPHA:513456
HP:0007663	Reduced visual acuity	80232	WDR26	OMIM:617616
HP:0007663	Reduced visual acuity	9578	CDC42BPB	OMIM:619841
HP:0007663	Reduced visual acuity	26610	ELP4	OMIM:617141
HP:0007663	Reduced visual acuity	51506	UFC1	OMIM:618076
HP:0007663	Reduced visual acuity	10730	YME1L1	OMIM:617302
HP:0007663	Reduced visual acuity	6595	SMARCA2	ORPHA:2728
HP:0007663	Reduced visual acuity	3781	KCNN2	OMIM:619724
HP:0007663	Reduced visual acuity	23431	AP4E1	OMIM:613744
HP:0007663	Reduced visual acuity	23431	AP4E1	ORPHA:280763
HP:0007663	Reduced visual acuity	4952	OCRL	ORPHA:534
HP:0007663	Reduced visual acuity	1185	CLCN6	OMIM:619173
HP:0007663	Reduced visual acuity	57589	RIC1	OMIM:618761
HP:0007663	Reduced visual acuity	92255	LMBRD2	OMIM:619694
HP:0007663	Reduced visual acuity	10352	WARS2	OMIM:617710
HP:0007663	Reduced visual acuity	10352	WARS2	ORPHA:572798
HP:0007663	Reduced visual acuity	2058	EPRS1	OMIM:617951
HP:0007663	Reduced visual acuity	81857	MED25	ORPHA:464738
HP:0007663	Reduced visual acuity	708	C1QBP	OMIM:617713
HP:0007663	Reduced visual acuity	1201	CLN3	ORPHA:228346
HP:0007663	Reduced visual acuity	2077	ERF	ORPHA:207
HP:0007663	Reduced visual acuity	646960	PRSS56	OMIM:613517
HP:0007663	Reduced visual acuity	128989	TANGO2	ORPHA:480864
HP:0007663	Reduced visual acuity	54539	NDUFB11	ORPHA:2556
HP:0007663	Reduced visual acuity	1349	COX7B	ORPHA:2556
HP:0007663	Reduced visual acuity	3052	HCCS	ORPHA:2556
HP:0007663	Reduced visual acuity	9241	NOG	OMIM:186500
HP:0007663	Reduced visual acuity	1420	CRYGC	OMIM:604307
HP:0007663	Reduced visual acuity	6899	TBX1	OMIM:188400
HP:0007663	Reduced visual acuity	1301	COL11A1	ORPHA:560
HP:0007663	Reduced visual acuity	1301	COL11A1	ORPHA:250984
HP:0007663	Reduced visual acuity	164	AP1G1	OMIM:619467
HP:0007663	Reduced visual acuity	54681	P4HTM	OMIM:618493
HP:0007663	Reduced visual acuity	57178	ZMIZ1	OMIM:618659
HP:0007663	Reduced visual acuity	23268	DNMBP	OMIM:618415
HP:0007663	Reduced visual acuity	57167	SALL4	ORPHA:233
HP:0007663	Reduced visual acuity	9935	MAFB	ORPHA:233
HP:0007663	Reduced visual acuity	1123	CHN1	ORPHA:233
HP:0007663	Reduced visual acuity	1123	CHN1	OMIM:604356
HP:0007663	Reduced visual acuity	401	PHOX2A	OMIM:602078
HP:0007663	Reduced visual acuity	7025	NR2F1	ORPHA:401777
HP:0007663	Reduced visual acuity	84265	POLR3GL	OMIM:619234
HP:0007663	Reduced visual acuity	23347	SMCHD1	ORPHA:2250
HP:0007663	Reduced visual acuity	3982	LIM2	OMIM:615277
HP:0007663	Reduced visual acuity	10367	MICU1	OMIM:615673
HP:0007663	Reduced visual acuity	8364	H4C3	OMIM:619758
HP:0007663	Reduced visual acuity	1282	COL4A1	OMIM:175780
HP:0007663	Reduced visual acuity	8085	KMT2D	OMIM:620186
HP:0007663	Reduced visual acuity	1859	DYRK1A	ORPHA:464311
HP:0007663	Reduced visual acuity	23556	PIGN	ORPHA:280633
HP:0007663	Reduced visual acuity	23556	PIGN	OMIM:614080
HP:0007663	Reduced visual acuity	55617	TASP1	OMIM:618950
HP:0007663	Reduced visual acuity	7204	TRIO	ORPHA:476126
HP:0007663	Reduced visual acuity	79803	HPS6	OMIM:614075
HP:0007663	Reduced visual acuity	284217	LAMA1	OMIM:615960
HP:0007663	Reduced visual acuity	284217	LAMA1	ORPHA:370022
HP:0007663	Reduced visual acuity	3832	KIF11	ORPHA:2526
HP:0007663	Reduced visual acuity	51085	MLXIPL	OMIM:194050
HP:0007663	Reduced visual acuity	2006	ELN	OMIM:194050
HP:0007663	Reduced visual acuity	668	FOXL2	ORPHA:572333
HP:0007663	Reduced visual acuity	2658	GDF2	ORPHA:774
HP:0007663	Reduced visual acuity	94	ACVRL1	ORPHA:774
HP:0007663	Reduced visual acuity	4089	SMAD4	ORPHA:774
HP:0007663	Reduced visual acuity	2022	ENG	ORPHA:774
HP:0007663	Reduced visual acuity	51322	WAC	ORPHA:284169
HP:0007663	Reduced visual acuity	10717	AP4B1	ORPHA:280763
HP:0007663	Reduced visual acuity	9179	AP4M1	ORPHA:280763
HP:0007663	Reduced visual acuity	11154	AP4S1	ORPHA:280763
HP:0007663	Reduced visual acuity	5308	PITX2	OMIM:180550
HP:0007663	Reduced visual acuity	7030	TFE3	OMIM:301066
HP:0007663	Reduced visual acuity	4935	GPR143	OMIM:300814
HP:0007663	Reduced visual acuity	55084	SOBP	OMIM:613671
HP:0007663	Reduced visual acuity	57479	PRR12	OMIM:619539
HP:0007663	Reduced visual acuity	7994	KAT6A	OMIM:616268
HP:0007663	Reduced visual acuity	2316	FLNA	ORPHA:1826
HP:0007663	Reduced visual acuity	6885	MAP3K7	ORPHA:1826
HP:0007663	Reduced visual acuity	9469	CHST3	OMIM:245600
HP:0007663	Reduced visual acuity	26229	B3GAT3	OMIM:245600
HP:0007663	Reduced visual acuity	1804	DPP6	OMIM:616311
HP:0007663	Reduced visual acuity	9181	ARHGEF2	OMIM:617523
HP:0007663	Reduced visual acuity	1297	COL9A1	ORPHA:250984
HP:0007663	Reduced visual acuity	1298	COL9A2	ORPHA:250984
HP:0007663	Reduced visual acuity	1299	COL9A3	ORPHA:250984
HP:0007663	Reduced visual acuity	84695	LOXL3	ORPHA:250984
HP:0007663	Reduced visual acuity	1414	CRYBB1	OMIM:611544
HP:0007663	Reduced visual acuity	673	BRAF	ORPHA:54595
HP:0007663	Reduced visual acuity	261734	NPHP4	OMIM:606996
HP:0007663	Reduced visual acuity	3769	KCNJ13	ORPHA:65
HP:0007663	Reduced visual acuity	343035	RD3	ORPHA:65
HP:0007663	Reduced visual acuity	145226	RDH12	ORPHA:65
HP:0007663	Reduced visual acuity	1406	CRX	ORPHA:65
HP:0007663	Reduced visual acuity	57096	RPGRIP1	ORPHA:65
HP:0007663	Reduced visual acuity	57096	RPGRIP1	OMIM:613826
HP:0007663	Reduced visual acuity	80184	CEP290	ORPHA:65
HP:0007663	Reduced visual acuity	10383	TUBB4B	ORPHA:65
HP:0007663	Reduced visual acuity	9742	IFT140	ORPHA:65
HP:0007663	Reduced visual acuity	85015	USP45	ORPHA:65
HP:0007663	Reduced visual acuity	6121	RPE65	ORPHA:65
HP:0007663	Reduced visual acuity	6121	RPE65	OMIM:613794
HP:0007663	Reduced visual acuity	23418	CRB1	ORPHA:65
HP:0007663	Reduced visual acuity	5130	PCYT1A	ORPHA:65
HP:0007663	Reduced visual acuity	9657	IQCB1	ORPHA:65
HP:0007663	Reduced visual acuity	23746	AIPL1	ORPHA:65
HP:0007663	Reduced visual acuity	3000	GUCY2D	ORPHA:65
HP:0007663	Reduced visual acuity	9227	LRAT	ORPHA:65
HP:0007663	Reduced visual acuity	55812	SPATA7	ORPHA:65
HP:0007663	Reduced visual acuity	7287	TULP1	ORPHA:65
HP:0007663	Reduced visual acuity	167691	LCA5	ORPHA:65
HP:0007663	Reduced visual acuity	3614	IMPDH1	ORPHA:65
HP:0007663	Reduced visual acuity	4693	NDP	ORPHA:891
HP:0007663	Reduced visual acuity	1499	CTNNB1	ORPHA:891
HP:0007663	Reduced visual acuity	23554	TSPAN12	ORPHA:891
HP:0007663	Reduced visual acuity	4041	LRP5	ORPHA:891
HP:0007663	Reduced visual acuity	4041	LRP5	ORPHA:2788
HP:0007663	Reduced visual acuity	79797	ZNF408	ORPHA:891
HP:0007663	Reduced visual acuity	8322	FZD4	ORPHA:891
HP:0007663	Reduced visual acuity	285440	CYP4V2	ORPHA:41751
HP:0007663	Reduced visual acuity	4166	CHST6	ORPHA:98969
HP:0007663	Reduced visual acuity	3257	HPS1	OMIM:203300
HP:0007663	Reduced visual acuity	130557	ZNF513	OMIM:613617
HP:0007663	Reduced visual acuity	28962	OSTM1	OMIM:259720
HP:0007663	Reduced visual acuity	4810	NHS	OMIM:302200
HP:0007663	Reduced visual acuity	10195	ALG3	OMIM:601110
HP:0007663	Reduced visual acuity	54714	CNGB3	OMIM:262300
HP:0007663	Reduced visual acuity	8481	OFD1	OMIM:300424
HP:0007663	Reduced visual acuity	778	CACNA1F	OMIM:300600
HP:0007663	Reduced visual acuity	6809	STX3	OMIM:619446
HP:0007663	Reduced visual acuity	8842	PROM1	OMIM:612095
HP:0007663	Reduced visual acuity	7466	WFS1	OMIM:614296
HP:0007663	Reduced visual acuity	7078	TIMP3	ORPHA:59181
HP:0007663	Reduced visual acuity	10749	KIF1C	ORPHA:397946
HP:0007663	Reduced visual acuity	10749	KIF1C	OMIM:611302
HP:0007663	Reduced visual acuity	85465	SELENOI	ORPHA:506353
HP:0007663	Reduced visual acuity	85465	SELENOI	OMIM:618768
HP:0007663	Reduced visual acuity	4099	MAG	OMIM:616680
HP:0007663	Reduced visual acuity	8294	H4C9	OMIM:619951
HP:0007663	Reduced visual acuity	51102	MECR	ORPHA:508093
HP:0007663	Reduced visual acuity	51102	MECR	OMIM:617282
HP:0007663	Reduced visual acuity	3560	IL2RB	ORPHA:85410
HP:0007663	Reduced visual acuity	79722	ANKRD55	ORPHA:85410
HP:0007663	Reduced visual acuity	26191	PTPN22	ORPHA:85410
HP:0007663	Reduced visual acuity	919	CD247	ORPHA:85410
HP:0007663	Reduced visual acuity	3559	IL2RA	ORPHA:85410
HP:0007663	Reduced visual acuity	5771	PTPN2	ORPHA:85410
HP:0007663	Reduced visual acuity	55823	VPS11	OMIM:616683
HP:0007663	Reduced visual acuity	7299	TYR	OMIM:203100
HP:0007663	Reduced visual acuity	6785	ELOVL4	ORPHA:827
HP:0007663	Reduced visual acuity	6785	ELOVL4	OMIM:600110
HP:0007663	Reduced visual acuity	123263	MTFMT	OMIM:614947
HP:0007663	Reduced visual acuity	7045	TGFBI	ORPHA:98962
HP:0007663	Reduced visual acuity	7045	TGFBI	ORPHA:98963
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:608470
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:608471
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:121820
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:607541
HP:0007663	Reduced visual acuity	146167	SLC38A8	OMIM:609218
HP:0007663	Reduced visual acuity	83959	SLC4A11	ORPHA:293603
HP:0007663	Reduced visual acuity	83959	SLC4A11	OMIM:217400
HP:0007663	Reduced visual acuity	83959	SLC4A11	ORPHA:98974
HP:0007663	Reduced visual acuity	8566	PDXK	OMIM:618511
HP:0007663	Reduced visual acuity	1638	DCT	OMIM:619165
HP:0007663	Reduced visual acuity	755	CFAP410	OMIM:617547
HP:0007663	Reduced visual acuity	27229	TUBGCP4	OMIM:616335
HP:0007663	Reduced visual acuity	169522	KCNV2	OMIM:610356
HP:0007663	Reduced visual acuity	93589	CACNA2D4	OMIM:610478
HP:0007663	Reduced visual acuity	93589	CACNA2D4	ORPHA:215
HP:0007663	Reduced visual acuity	63915	BLOC1S5	OMIM:619172
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309271
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309263
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309256
HP:0007663	Reduced visual acuity	6452	SH3BP2	OMIM:118400
HP:0007663	Reduced visual acuity	1738	DLD	ORPHA:2394
HP:0007663	Reduced visual acuity	7345	UCHL1	OMIM:615491
HP:0007663	Reduced visual acuity	9364	RAB28	OMIM:615374
HP:0007663	Reduced visual acuity	283652	SLC24A5	OMIM:113750
HP:0007663	Reduced visual acuity	283652	SLC24A5	ORPHA:370097
HP:0007663	Reduced visual acuity	64834	ELOVL1	OMIM:618527
HP:0007663	Reduced visual acuity	7123	CLEC3B	OMIM:619977
HP:0007663	Reduced visual acuity	79140	CCDC28B	OMIM:209900
HP:0007663	Reduced visual acuity	54675	CRLS1	OMIM:620167
HP:0007663	Reduced visual acuity	8546	AP3B1	OMIM:608233
HP:0007663	Reduced visual acuity	157680	VPS13B	OMIM:216550
HP:0007663	Reduced visual acuity	1130	LYST	ORPHA:167
HP:0007663	Reduced visual acuity	1130	LYST	OMIM:214500
HP:0007663	Reduced visual acuity	1678	TIMM8A	OMIM:304700
HP:0007663	Reduced visual acuity	55714	TENM3	OMIM:615145
HP:0007663	Reduced visual acuity	5833	PCYT2	OMIM:618770
HP:0007663	Reduced visual acuity	246243	RNASEH1	OMIM:616479
HP:0007663	Reduced visual acuity	5950	RBP4	OMIM:615147
HP:0007663	Reduced visual acuity	2301	FOXE3	OMIM:610256
HP:0007663	Reduced visual acuity	2201	FBN2	OMIM:616118
HP:0007663	Reduced visual acuity	2395	FXN	ORPHA:95
HP:0007663	Reduced visual acuity	2395	FXN	OMIM:229300
HP:0007663	Reduced visual acuity	11081	KERA	OMIM:217300
HP:0007663	Reduced visual acuity	5146	PDE6C	OMIM:613093
HP:0007663	Reduced visual acuity	5146	PDE6C	ORPHA:49382
HP:0007663	Reduced visual acuity	83394	PITPNM3	OMIM:600977
HP:0007663	Reduced visual acuity	91574	MTRFR	OMIM:615035
HP:0007663	Reduced visual acuity	91574	MTRFR	ORPHA:320375
HP:0007663	Reduced visual acuity	5956	OPN1LW	OMIM:303700
HP:0007663	Reduced visual acuity	2652	OPN1MW	OMIM:303700
HP:0007663	Reduced visual acuity	5149	PDE6H	OMIM:610024
HP:0007663	Reduced visual acuity	5149	PDE6H	ORPHA:49382
HP:0007663	Reduced visual acuity	23503	ZFYVE26	OMIM:270700
HP:0007663	Reduced visual acuity	402	ARL2	OMIM:619082
HP:0007663	Reduced visual acuity	89781	HPS4	OMIM:614073
HP:0007663	Reduced visual acuity	11234	HPS5	OMIM:614074
HP:0007663	Reduced visual acuity	368	ABCC6	OMIM:177850
HP:0007663	Reduced visual acuity	368	ABCC6	OMIM:264800
HP:0007663	Reduced visual acuity	3098	HK1	OMIM:617460
HP:0007663	Reduced visual acuity	84343	HPS3	OMIM:614072
HP:0007663	Reduced visual acuity	388552	BLOC1S3	OMIM:614077
HP:0007663	Reduced visual acuity	84062	DTNBP1	OMIM:614076
HP:0007663	Reduced visual acuity	3859	KRT12	OMIM:122100
HP:0007663	Reduced visual acuity	56623	INPP5E	OMIM:610156
HP:0007663	Reduced visual acuity	11261	CHP1	OMIM:618438
HP:0007663	Reduced visual acuity	5191	PEX7	OMIM:614879
HP:0007663	Reduced visual acuity	6742	SSBP1	OMIM:165510
HP:0007663	Reduced visual acuity	4308	TRPM1	ORPHA:215
HP:0007663	Reduced visual acuity	4308	TRPM1	OMIM:613216
HP:0007663	Reduced visual acuity	57010	CABP4	ORPHA:215
HP:0007663	Reduced visual acuity	345193	LRIT3	ORPHA:215
HP:0007663	Reduced visual acuity	345193	LRIT3	OMIM:615058
HP:0007663	Reduced visual acuity	2916	GRM6	ORPHA:215
HP:0007663	Reduced visual acuity	440435	GPR179	ORPHA:215
HP:0007663	Reduced visual acuity	440435	GPR179	OMIM:614565
HP:0007663	Reduced visual acuity	6011	GRK1	ORPHA:215
HP:0007663	Reduced visual acuity	9187	SLC24A1	ORPHA:215
HP:0007663	Reduced visual acuity	2784	GNB3	ORPHA:215
HP:0007663	Reduced visual acuity	2779	GNAT1	ORPHA:215
HP:0007663	Reduced visual acuity	60506	NYX	ORPHA:215
HP:0007663	Reduced visual acuity	7837	PXDN	OMIM:269400
HP:0007663	Reduced visual acuity	22926	ATF6	ORPHA:49382
HP:0007663	Reduced visual acuity	22926	ATF6	OMIM:616517
HP:0007663	Reduced visual acuity	2780	GNAT2	ORPHA:49382
HP:0007663	Reduced visual acuity	1261	CNGA3	ORPHA:49382
HP:0007663	Reduced visual acuity	1261	CNGA3	OMIM:216900
HP:0007663	Reduced visual acuity	83723	TLCD3B	OMIM:619531
HP:0007663	Reduced visual acuity	326	AIRE	OMIM:240300
HP:0007663	Reduced visual acuity	7867	MAPKAPK3	OMIM:617111
HP:0007663	Reduced visual acuity	282809	POC1B	OMIM:615973
HP:0007663	Reduced visual acuity	83938	LRMDA	OMIM:615179
HP:0007663	Reduced visual acuity	11152	WDR45	OMIM:615179
HP:0007663	Reduced visual acuity	26022	TMEM98	OMIM:615972
HP:0007663	Reduced visual acuity	23093	TTLL5	OMIM:615860
HP:0007663	Reduced visual acuity	129880	BBS5	OMIM:615983
HP:0007663	Reduced visual acuity	113457	TUBA3D	OMIM:617928
HP:0007663	Reduced visual acuity	8905	AP1S2	OMIM:304340
HP:0007663	Reduced visual acuity	4157	MC1R	ORPHA:79432
HP:0007663	Reduced visual acuity	4157	MC1R	OMIM:203200
HP:0007663	Reduced visual acuity	4948	OCA2	ORPHA:79432
HP:0007663	Reduced visual acuity	4948	OCA2	OMIM:203200
HP:0007663	Reduced visual acuity	123624	AGBL1	ORPHA:98974
HP:0007663	Reduced visual acuity	6925	TCF4	ORPHA:98974
HP:0007663	Reduced visual acuity	51151	SLC45A2	ORPHA:79435
HP:0007663	Reduced visual acuity	50	ACO2	OMIM:616289
HP:0007663	Reduced visual acuity	406987	MIR204	OMIM:616722
HP:0007663	Reduced visual acuity	10806	SDCCAG8	OMIM:615993
HP:0007663	Reduced visual acuity	406960	MIR184	OMIM:614303
HP:0007663	Reduced visual acuity	6507	SLC1A3	ORPHA:209967
HP:0007663	Reduced visual acuity	54765	TRIM44	OMIM:617142
HP:0007663	Reduced visual acuity	83552	MFRP	OMIM:611040
HP:0007663	Reduced visual acuity	84816	RTN4IP1	OMIM:616732
HP:0007663	Reduced visual acuity	11190	CEP250	OMIM:618358
HP:0007663	Reduced visual acuity	91869	RFT1	OMIM:612015
HP:0007663	Reduced visual acuity	611	OPN1SW	ORPHA:88629
HP:0007663	Reduced visual acuity	128338	DRAM2	OMIM:616502
HP:0007663	Reduced visual acuity	267010	RNU12	OMIM:620208
HP:0007663	Reduced visual acuity	91851	CHRDL1	OMIM:309300
HP:0007663	Reduced visual acuity	2978	GUCA1A	OMIM:602093
HP:0007663	Reduced visual acuity	2978	GUCA1A	ORPHA:75377
HP:0007663	Reduced visual acuity	444	ASPH	OMIM:601552
HP:0007663	Reduced visual acuity	201973	PRIMPOL	OMIM:615420
HP:0007663	Reduced visual acuity	9445	ITM2B	OMIM:616079
HP:0007663	Reduced visual acuity	6297	SALL2	OMIM:216820
HP:0007663	Reduced visual acuity	64840	PORCN	OMIM:305600
HP:0007663	Reduced visual acuity	87178	PNPT1	ORPHA:101111
HP:0007663	Reduced visual acuity	87178	PNPT1	OMIM:608703
HP:0007663	Reduced visual acuity	57498	KIDINS220	OMIM:617296
HP:0007663	Reduced visual acuity	55213	RCBTB1	OMIM:617175
HP:0007663	Reduced visual acuity	55229	PANK4	OMIM:619593
HP:0007663	Reduced visual acuity	4043	LRPAP1	OMIM:615431
HP:0007663	Reduced visual acuity	4070	TACSTD2	OMIM:204870
HP:0007663	Reduced visual acuity	998	CDC42	ORPHA:487796
HP:0007663	Reduced visual acuity	84839	RAX2	OMIM:620102
HP:0007663	Reduced visual acuity	8936	WASF1	OMIM:618707
HP:0007663	Reduced visual acuity	1495	CTNNA1	OMIM:608970
HP:0007663	Reduced visual acuity	10682	EBP	OMIM:300960
HP:0007663	Reduced visual acuity	64131	XYLT1	OMIM:264800
HP:0007663	Reduced visual acuity	283989	TSEN54	ORPHA:2524
HP:0007663	Reduced visual acuity	116461	TSEN15	ORPHA:2524
HP:0007663	Reduced visual acuity	79042	TSEN34	ORPHA:2524
HP:0007663	Reduced visual acuity	80746	TSEN2	ORPHA:2524
HP:0007663	Reduced visual acuity	51091	SEPSECS	ORPHA:2524
HP:0007663	Reduced visual acuity	80210	ARMC9	OMIM:617622
HP:0007663	Reduced visual acuity	23516	SLC39A14	OMIM:144755
HP:0007663	Reduced visual acuity	4140	MARK3	OMIM:618283
HP:0007663	Reduced visual acuity	112752	IFT43	OMIM:617871
HP:0007663	Reduced visual acuity	387	RHOA	OMIM:618727
HP:0007663	Reduced visual acuity	51594	NBAS	OMIM:614800
HP:0007663	Reduced visual acuity	57728	WDR19	OMIM:616307
HP:0007663	Reduced visual acuity	6522	SLC4A2	OMIM:620366
HP:0007663	Reduced visual acuity	84233	TMEM126A	OMIM:612989
HP:0007663	Reduced visual acuity	57410	SCYL1	ORPHA:466794
HP:0007663	Reduced visual acuity	5076	PAX2	OMIM:120330
HP:0007663	Reduced visual acuity	224	ALDH3A2	OMIM:270200
HP:0007663	Reduced visual acuity	84277	DNAJC30	OMIM:619382
HP:0007663	Reduced visual acuity	23155	CLCC1	OMIM:609913
HP:0007663	Reduced visual acuity	9699	RIMS2	OMIM:618970
HP:0007663	Reduced visual acuity	23102	TBC1D2B	ORPHA:397973
HP:0007663	Reduced visual acuity	4327	MMP19	OMIM:611543
HP:0007663	Reduced visual acuity	10939	AFG3L2	OMIM:618977
HP:0007663	Reduced visual acuity	5297	PI4KA	OMIM:619708
HP:0007663	Reduced visual acuity	25974	MMACHC	OMIM:277400
HP:0007663	Reduced visual acuity	5052	PRDX1	OMIM:277400
HP:0007663	Reduced visual acuity	471	ATIC	ORPHA:250977
HP:0007663	Reduced visual acuity	471	ATIC	OMIM:608688
HP:0007663	Reduced visual acuity	1757	SARDH	ORPHA:3129
HP:0007663	Reduced visual acuity	286053	NSMCE2	ORPHA:436182
HP:0007663	Reduced visual acuity	7518	XRCC4	ORPHA:436182
HP:0007663	Reduced visual acuity	10059	DNM1L	ORPHA:98673
HP:0007663	Reduced visual acuity	4976	OPA1	ORPHA:98673
HP:0007663	Reduced visual acuity	5879	RAC1	ORPHA:500159
HP:0007663	Reduced visual acuity	50939	IMPG2	OMIM:616152
HP:0007663	Reduced visual acuity	3617	IMPG1	OMIM:616151
HP:0007663	Reduced visual acuity	8314	BAP1	ORPHA:2495
HP:0007663	Reduced visual acuity	4771	NF2	ORPHA:2495
HP:0007663	Reduced visual acuity	6598	SMARCB1	ORPHA:2495
HP:0007663	Reduced visual acuity	5155	PDGFB	ORPHA:2495
HP:0007663	Reduced visual acuity	84231	TRAF7	ORPHA:2495
HP:0007663	Reduced visual acuity	6608	SMO	ORPHA:2495
HP:0007663	Reduced visual acuity	207	AKT1	ORPHA:2495
HP:0007663	Reduced visual acuity	5290	PIK3CA	ORPHA:2495
HP:0007663	Reduced visual acuity	7015	TERT	ORPHA:2495
HP:0007663	Reduced visual acuity	51684	SUFU	ORPHA:2495
HP:0007663	Reduced visual acuity	6605	SMARCE1	ORPHA:2495
HP:0007663	Reduced visual acuity	5456	POU3F4	ORPHA:1435
HP:0007663	Reduced visual acuity	10381	TUBB3	ORPHA:300570
HP:0007663	Reduced visual acuity	5080	PAX6	ORPHA:137902
HP:0007663	Reduced visual acuity	114902	C1QTNF5	ORPHA:67042
HP:0007663	Reduced visual acuity	324	APC	ORPHA:99818
HP:0007663	Reduced visual acuity	9785	DHX38	OMIM:618220
HP:0007663	Reduced visual acuity	55214	P3H2	OMIM:614292
HP:0007663	Reduced visual acuity	90167	FRMD7	OMIM:310700
HP:0007663	Reduced visual acuity	6935	ZEB1	ORPHA:98973
HP:0007663	Reduced visual acuity	30813	VSX1	ORPHA:98973
HP:0007663	Reduced visual acuity	58495	OVOL2	ORPHA:98973
HP:0007663	Reduced visual acuity	79977	GRHL2	ORPHA:98973
HP:0007663	Reduced visual acuity	1296	COL8A2	ORPHA:98973
HP:0007663	Reduced visual acuity	392255	GDF6	OMIM:615360
HP:0007663	Reduced visual acuity	64802	NMNAT1	OMIM:608553
HP:0007663	Reduced visual acuity	3166	HMX1	OMIM:612109
HP:0007663	Reduced visual acuity	220202	ATOH7	OMIM:221900
HP:0011064	Abnormal number of incisors	641	BLM	OMIM:210900
HP:0011064	Abnormal number of incisors	2071	ERCC3	OMIM:616390
HP:0011064	Abnormal number of incisors	8260	NAA10	OMIM:309800
HP:0011064	Abnormal number of incisors	54880	BCOR	OMIM:309800
HP:0011064	Abnormal number of incisors	2260	FGFR1	ORPHA:99798
HP:0011064	Abnormal number of incisors	4487	MSX1	ORPHA:99798
HP:0011064	Abnormal number of incisors	128178	EDARADD	ORPHA:99798
HP:0011064	Abnormal number of incisors	5083	PAX9	ORPHA:99798
HP:0011064	Abnormal number of incisors	7341	SUMO1	ORPHA:99798
HP:0011064	Abnormal number of incisors	80326	WNT10A	ORPHA:99798
HP:0011064	Abnormal number of incisors	1896	EDA	ORPHA:99798
HP:0011064	Abnormal number of incisors	8313	AXIN2	ORPHA:99798
HP:0011064	Abnormal number of incisors	3664	IRF6	ORPHA:99798
HP:0011064	Abnormal number of incisors	4040	LRP6	ORPHA:99798
HP:0011064	Abnormal number of incisors	7039	TGFA	ORPHA:99798
HP:0011064	Abnormal number of incisors	7480	WNT10B	ORPHA:99798
HP:0011064	Abnormal number of incisors	145173	B3GLCT	OMIM:261540
HP:0011064	Abnormal number of incisors	4750	NEK1	ORPHA:2751
HP:0011064	Abnormal number of incisors	28514	DLL1	ORPHA:280200
HP:0011064	Abnormal number of incisors	28514	DLL1	ORPHA:220386
HP:0011064	Abnormal number of incisors	28514	DLL1	ORPHA:93926
HP:0011064	Abnormal number of incisors	28514	DLL1	ORPHA:93924
HP:0011064	Abnormal number of incisors	28514	DLL1	ORPHA:93925
HP:0011064	Abnormal number of incisors	2253	FGF8	ORPHA:280200
HP:0011064	Abnormal number of incisors	2253	FGF8	ORPHA:220386
HP:0011064	Abnormal number of incisors	2253	FGF8	ORPHA:93926
HP:0011064	Abnormal number of incisors	2253	FGF8	ORPHA:93924
HP:0011064	Abnormal number of incisors	2253	FGF8	ORPHA:93925
HP:0011064	Abnormal number of incisors	6496	SIX3	ORPHA:280200
HP:0011064	Abnormal number of incisors	6496	SIX3	ORPHA:220386
HP:0011064	Abnormal number of incisors	6496	SIX3	OMIM:157170
HP:0011064	Abnormal number of incisors	6496	SIX3	ORPHA:93926
HP:0011064	Abnormal number of incisors	6496	SIX3	ORPHA:93924
HP:0011064	Abnormal number of incisors	6496	SIX3	ORPHA:93925
HP:0011064	Abnormal number of incisors	7050	TGIF1	ORPHA:280200
HP:0011064	Abnormal number of incisors	7050	TGIF1	ORPHA:220386
HP:0011064	Abnormal number of incisors	7050	TGIF1	ORPHA:93926
HP:0011064	Abnormal number of incisors	7050	TGIF1	ORPHA:93924
HP:0011064	Abnormal number of incisors	7050	TGIF1	ORPHA:93925
HP:0011064	Abnormal number of incisors	4838	NODAL	ORPHA:280200
HP:0011064	Abnormal number of incisors	4838	NODAL	ORPHA:220386
HP:0011064	Abnormal number of incisors	4838	NODAL	ORPHA:93926
HP:0011064	Abnormal number of incisors	4838	NODAL	ORPHA:93924
HP:0011064	Abnormal number of incisors	4838	NODAL	ORPHA:93925
HP:0011064	Abnormal number of incisors	6469	SHH	ORPHA:280200
HP:0011064	Abnormal number of incisors	6469	SHH	ORPHA:220386
HP:0011064	Abnormal number of incisors	6469	SHH	OMIM:147250
HP:0011064	Abnormal number of incisors	6469	SHH	OMIM:142945
HP:0011064	Abnormal number of incisors	6469	SHH	ORPHA:93926
HP:0011064	Abnormal number of incisors	6469	SHH	ORPHA:93924
HP:0011064	Abnormal number of incisors	6469	SHH	ORPHA:93925
HP:0011064	Abnormal number of incisors	51684	SUFU	ORPHA:280200
HP:0011064	Abnormal number of incisors	7546	ZIC2	ORPHA:280200
HP:0011064	Abnormal number of incisors	7546	ZIC2	ORPHA:220386
HP:0011064	Abnormal number of incisors	7546	ZIC2	ORPHA:93926
HP:0011064	Abnormal number of incisors	7546	ZIC2	ORPHA:93924
HP:0011064	Abnormal number of incisors	7546	ZIC2	ORPHA:93925
HP:0011064	Abnormal number of incisors	2619	GAS1	ORPHA:280200
HP:0011064	Abnormal number of incisors	2619	GAS1	ORPHA:220386
HP:0011064	Abnormal number of incisors	2619	GAS1	ORPHA:93926
HP:0011064	Abnormal number of incisors	2619	GAS1	ORPHA:93924
HP:0011064	Abnormal number of incisors	2619	GAS1	ORPHA:93925
HP:0011064	Abnormal number of incisors	84976	DISP1	ORPHA:280200
HP:0011064	Abnormal number of incisors	84976	DISP1	ORPHA:220386
HP:0011064	Abnormal number of incisors	84976	DISP1	ORPHA:93926
HP:0011064	Abnormal number of incisors	84976	DISP1	ORPHA:93924
HP:0011064	Abnormal number of incisors	84976	DISP1	ORPHA:93925
HP:0011064	Abnormal number of incisors	8928	FOXH1	ORPHA:280200
HP:0011064	Abnormal number of incisors	8928	FOXH1	ORPHA:220386
HP:0011064	Abnormal number of incisors	8928	FOXH1	ORPHA:93926
HP:0011064	Abnormal number of incisors	8928	FOXH1	ORPHA:93924
HP:0011064	Abnormal number of incisors	8928	FOXH1	ORPHA:93925
HP:0011064	Abnormal number of incisors	5727	PTCH1	ORPHA:280200
HP:0011064	Abnormal number of incisors	5727	PTCH1	ORPHA:220386
HP:0011064	Abnormal number of incisors	5727	PTCH1	OMIM:610828
HP:0011064	Abnormal number of incisors	5727	PTCH1	ORPHA:93926
HP:0011064	Abnormal number of incisors	5727	PTCH1	ORPHA:93924
HP:0011064	Abnormal number of incisors	5727	PTCH1	ORPHA:93925
HP:0011064	Abnormal number of incisors	50937	CDON	ORPHA:280200
HP:0011064	Abnormal number of incisors	50937	CDON	ORPHA:220386
HP:0011064	Abnormal number of incisors	50937	CDON	ORPHA:93926
HP:0011064	Abnormal number of incisors	50937	CDON	ORPHA:93924
HP:0011064	Abnormal number of incisors	50937	CDON	ORPHA:93925
HP:0011064	Abnormal number of incisors	23019	CNOT1	ORPHA:556955
HP:0011064	Abnormal number of incisors	10735	STAG2	OMIM:301043
HP:0011064	Abnormal number of incisors	10735	STAG2	ORPHA:220386
HP:0011064	Abnormal number of incisors	10735	STAG2	ORPHA:93925
HP:0011064	Abnormal number of incisors	8243	SMC1A	OMIM:301044
HP:0011064	Abnormal number of incisors	8243	SMC1A	ORPHA:220386
HP:0011064	Abnormal number of incisors	6491	STIL	ORPHA:220386
HP:0011064	Abnormal number of incisors	6491	STIL	OMIM:612703
HP:0011064	Abnormal number of incisors	6491	STIL	ORPHA:93926
HP:0011064	Abnormal number of incisors	6491	STIL	ORPHA:93924
HP:0011064	Abnormal number of incisors	6491	STIL	ORPHA:93925
HP:0011064	Abnormal number of incisors	2121	EVC	OMIM:193530
HP:0011064	Abnormal number of incisors	2121	EVC	ORPHA:952
HP:0011064	Abnormal number of incisors	132884	EVC2	OMIM:193530
HP:0011064	Abnormal number of incisors	132884	EVC2	ORPHA:952
HP:0011064	Abnormal number of incisors	4087	SMAD2	OMIM:619657
HP:0011064	Abnormal number of incisors	4281	MID1	OMIM:300000
HP:0011064	Abnormal number of incisors	29123	ANKRD11	ORPHA:261250
HP:0011064	Abnormal number of incisors	23007	PLCH1	ORPHA:93925
HP:0011064	Abnormal number of incisors	5818	NECTIN1	ORPHA:199302
HP:0011064	Abnormal number of incisors	8626	TP63	ORPHA:199302
HP:0011064	Abnormal number of incisors	4810	NHS	OMIM:302350
HP:0011064	Abnormal number of incisors	9775	EIF4A3	OMIM:268305
HP:0011064	Abnormal number of incisors	2736	GLI2	OMIM:610829
HP:0011064	Abnormal number of incisors	1747	DLX3	ORPHA:3352
HP:0011064	Abnormal number of incisors	9578	CDC42BPB	OMIM:619841
HP:0011064	Abnormal number of incisors	1009	CDH11	OMIM:211380
HP:0011064	Abnormal number of incisors	1748	DLX4	OMIM:616788
HP:0011064	Abnormal number of incisors	1748	DLX4	ORPHA:199306
HP:0011064	Abnormal number of incisors	1739	DLG1	ORPHA:199306
HP:0011064	Abnormal number of incisors	652	BMP4	ORPHA:199306
HP:0011064	Abnormal number of incisors	999	CDH1	ORPHA:199306
HP:0011064	Abnormal number of incisors	5156	PDGFRA	ORPHA:199306
HP:0011064	Abnormal number of incisors	9411	ARHGAP29	ORPHA:199306
HP:0011064	Abnormal number of incisors	54101	RIPK4	ORPHA:1401
HP:0011063	Abnormal incisor morphology	2972	BRF1	OMIM:616202
HP:0011063	Abnormal incisor morphology	2972	BRF1	ORPHA:444072
HP:0011063	Abnormal incisor morphology	1301	COL11A1	OMIM:154780
HP:0011063	Abnormal incisor morphology	8911	CACNA1I	OMIM:620114
HP:0011063	Abnormal incisor morphology	10664	CTCF	ORPHA:363611
HP:0011063	Abnormal incisor morphology	10667	FARS2	ORPHA:466722
HP:0011063	Abnormal incisor morphology	3778	KCNMA1	OMIM:618729
HP:0011063	Abnormal incisor morphology	2892	GRIA3	ORPHA:364028
HP:0011063	Abnormal incisor morphology	526	ATP6V1B2	ORPHA:79500
HP:0011063	Abnormal incisor morphology	57465	TBC1D24	ORPHA:79500
HP:0011063	Abnormal incisor morphology	2697	GJA1	OMIM:257850
HP:0011063	Abnormal incisor morphology	157680	VPS13B	OMIM:216550
HP:0011063	Abnormal incisor morphology	23241	PACS2	OMIM:618067
HP:0011063	Abnormal incisor morphology	7994	KAT6A	OMIM:616268
HP:0011063	Abnormal incisor morphology	4487	MSX1	ORPHA:199306
HP:0011063	Abnormal incisor morphology	4487	MSX1	ORPHA:99798
HP:0011063	Abnormal incisor morphology	5818	NECTIN1	ORPHA:199306
HP:0011063	Abnormal incisor morphology	1739	DLG1	ORPHA:199306
HP:0011063	Abnormal incisor morphology	652	BMP4	ORPHA:199306
HP:0011063	Abnormal incisor morphology	8626	TP63	ORPHA:199306
HP:0011063	Abnormal incisor morphology	999	CDH1	ORPHA:199306
HP:0011063	Abnormal incisor morphology	5156	PDGFRA	ORPHA:199306
HP:0011063	Abnormal incisor morphology	3664	IRF6	ORPHA:199306
HP:0011063	Abnormal incisor morphology	3664	IRF6	ORPHA:99798
HP:0011063	Abnormal incisor morphology	9411	ARHGAP29	ORPHA:199306
HP:0011063	Abnormal incisor morphology	1748	DLX4	ORPHA:199306
HP:0011063	Abnormal incisor morphology	2260	FGFR1	ORPHA:99798
HP:0011063	Abnormal incisor morphology	128178	EDARADD	ORPHA:99798
HP:0011063	Abnormal incisor morphology	5083	PAX9	ORPHA:99798
HP:0011063	Abnormal incisor morphology	7341	SUMO1	ORPHA:99798
HP:0011063	Abnormal incisor morphology	1896	EDA	ORPHA:99798
HP:0011063	Abnormal incisor morphology	8313	AXIN2	ORPHA:99798
HP:0011063	Abnormal incisor morphology	4040	LRP6	ORPHA:99798
HP:0011063	Abnormal incisor morphology	7039	TGFA	ORPHA:99798
HP:0011063	Abnormal incisor morphology	7480	WNT10B	ORPHA:99798
HP:0011063	Abnormal incisor morphology	2248	FGF3	OMIM:610706
HP:0011063	Abnormal incisor morphology	4810	NHS	OMIM:302350
HP:0011063	Abnormal incisor morphology	5566	PRKACA	ORPHA:289
HP:0011063	Abnormal incisor morphology	5567	PRKACB	ORPHA:289
HP:0011063	Abnormal incisor morphology	2735	GLI1	ORPHA:289
HP:0011063	Abnormal incisor morphology	2121	EVC	ORPHA:289
HP:0011063	Abnormal incisor morphology	51626	DYNC2LI1	ORPHA:289
HP:0011063	Abnormal incisor morphology	132884	EVC2	ORPHA:289
HP:0011063	Abnormal incisor morphology	545	ATR	OMIM:614564
HP:0011063	Abnormal incisor morphology	2263	FGFR2	OMIM:149730
HP:0011063	Abnormal incisor morphology	80326	WNT10A	OMIM:257980
HP:0011063	Abnormal incisor morphology	147372	CCBE1	OMIM:235510
HP:0011063	Abnormal incisor morphology	8517	IKBKG	OMIM:300291
HP:0011063	Abnormal incisor morphology	145173	B3GLCT	OMIM:261540
HP:0011063	Abnormal incisor morphology	51305	KCNK9	ORPHA:166108
HP:0011063	Abnormal incisor morphology	5813	PURA	ORPHA:438216
HP:0011063	Abnormal incisor morphology	10060	ABCC9	OMIM:619719
HP:0011063	Abnormal incisor morphology	6768	ST14	OMIM:602400
HP:0011063	Abnormal incisor morphology	2033	EP300	OMIM:613684
HP:0011063	Abnormal incisor morphology	2033	EP300	OMIM:180849
HP:0011063	Abnormal incisor morphology	2033	EP300	ORPHA:353284
HP:0011063	Abnormal incisor morphology	1387	CREBBP	OMIM:180849
HP:0011063	Abnormal incisor morphology	1387	CREBBP	ORPHA:353277
HP:0011063	Abnormal incisor morphology	1387	CREBBP	ORPHA:353281
HP:0011063	Abnormal incisor morphology	4750	NEK1	ORPHA:2751
HP:0011063	Abnormal incisor morphology	22856	CHSY1	OMIM:605282
HP:0011063	Abnormal incisor morphology	22856	CHSY1	ORPHA:363417
HP:0011063	Abnormal incisor morphology	1802	DPH2	OMIM:620062
HP:0011063	Abnormal incisor morphology	150468	CKAP2L	OMIM:272440
HP:0011062	Misalignment of incisors	257	ALX3	OMIM:136760
HP:0011062	Misalignment of incisors	6045	RNF2	OMIM:619460
HP:0011062	Misalignment of incisors	57459	GATAD2B	ORPHA:363686
HP:0011062	Misalignment of incisors	29123	ANKRD11	OMIM:148050
HP:0011062	Misalignment of incisors	29123	ANKRD11	ORPHA:2332
HP:0011062	Misalignment of incisors	546	ATRX	OMIM:309580
HP:0011062	Misalignment of incisors	546	ATRX	OMIM:301040
HP:0011062	Misalignment of incisors	10274	STAG1	ORPHA:502434
HP:0011062	Misalignment of incisors	1788	DNMT3A	ORPHA:404443
HP:0011062	Misalignment of incisors	158326	FREM1	OMIM:608980
HP:0011062	Misalignment of incisors	10060	ABCC9	OMIM:619719
HP:0011062	Misalignment of incisors	3265	HRAS	ORPHA:79414
HP:0011062	Misalignment of incisors	10844	TUBGCP2	OMIM:618737
HP:0011062	Misalignment of incisors	3149	HMGB3	OMIM:300915
HP:0011062	Misalignment of incisors	23102	TBC1D2B	ORPHA:397973
HP:0011062	Misalignment of incisors	222663	SCUBE3	OMIM:619184
HP:0011062	Misalignment of incisors	85440	DOCK7	ORPHA:411986
HP:0011062	Misalignment of incisors	22856	CHSY1	ORPHA:363417
HP:0011069	Supernumerary tooth	4487	MSX1	ORPHA:199302
HP:0011069	Supernumerary tooth	5818	NECTIN1	ORPHA:199302
HP:0011069	Supernumerary tooth	8626	TP63	ORPHA:199302
HP:0011069	Supernumerary tooth	3664	IRF6	ORPHA:199302
HP:0011069	Supernumerary tooth	4810	NHS	OMIM:302350
HP:0011069	Supernumerary tooth	22827	PUF60	ORPHA:508488
HP:0011069	Supernumerary tooth	5457	POU4F1	ORPHA:314647
HP:0011069	Supernumerary tooth	23261	CAMTA1	ORPHA:314647
HP:0011069	Supernumerary tooth	3572	IL6ST	OMIM:619752
HP:0011069	Supernumerary tooth	3590	IL11RA	OMIM:614188
HP:0011069	Supernumerary tooth	1859	DYRK1A	ORPHA:268261
HP:0011069	Supernumerary tooth	26005	C2CD3	ORPHA:434179
HP:0011069	Supernumerary tooth	26005	C2CD3	OMIM:615948
HP:0011069	Supernumerary tooth	1857	DVL3	ORPHA:3107
HP:0011069	Supernumerary tooth	7474	WNT5A	ORPHA:3107
HP:0011069	Supernumerary tooth	1855	DVL1	ORPHA:3107
HP:0011069	Supernumerary tooth	2535	FZD2	ORPHA:3107
HP:0011069	Supernumerary tooth	9508	ADAMTS3	ORPHA:2136
HP:0011069	Supernumerary tooth	147372	CCBE1	ORPHA:2136
HP:0011069	Supernumerary tooth	79633	FAT4	ORPHA:2136
HP:0011069	Supernumerary tooth	6228	RPS23	OMIM:617412
HP:0011069	Supernumerary tooth	6938	TCF12	OMIM:619718
HP:0011069	Supernumerary tooth	324	APC	OMIM:175100
HP:0011069	Supernumerary tooth	324	APC	ORPHA:247806
HP:0011069	Supernumerary tooth	324	APC	ORPHA:79665
HP:0011069	Supernumerary tooth	2131	EXT1	ORPHA:502
HP:0011069	Supernumerary tooth	7227	TRPS1	ORPHA:502
HP:0011069	Supernumerary tooth	7227	TRPS1	OMIM:190351
HP:0011069	Supernumerary tooth	7227	TRPS1	ORPHA:77258
HP:0011069	Supernumerary tooth	9401	RECQL4	OMIM:268400
HP:0011069	Supernumerary tooth	23630	KCNE5	ORPHA:86818
HP:0011069	Supernumerary tooth	2182	ACSL4	ORPHA:86818
HP:0011069	Supernumerary tooth	9949	AMMECR1	ORPHA:86818
HP:0011069	Supernumerary tooth	54880	BCOR	OMIM:300166
HP:0011069	Supernumerary tooth	1387	CREBBP	ORPHA:353281
HP:0011069	Supernumerary tooth	1387	CREBBP	ORPHA:353277
HP:0011069	Supernumerary tooth	83479	DDX59	ORPHA:2919
HP:0011069	Supernumerary tooth	8481	OFD1	OMIM:311200
HP:0011069	Supernumerary tooth	2542	SLC37A4	OMIM:619525
HP:0011069	Supernumerary tooth	2033	EP300	ORPHA:353284
HP:0011069	Supernumerary tooth	1717	DHCR7	ORPHA:818
HP:0011069	Supernumerary tooth	4488	MSX2	OMIM:604757
HP:0011069	Supernumerary tooth	64359	NXN	ORPHA:1507
HP:0011069	Supernumerary tooth	4920	ROR2	ORPHA:1507
HP:0011069	Supernumerary tooth	1009	CDH11	OMIM:211380
HP:0011069	Supernumerary tooth	2248	FGF3	ORPHA:90024
HP:0011069	Supernumerary tooth	3339	HSPG2	ORPHA:800
HP:0011069	Supernumerary tooth	3861	KRT14	ORPHA:69087
HP:0011069	Supernumerary tooth	860	RUNX2	OMIM:119600
HP:0011069	Supernumerary tooth	860	RUNX2	ORPHA:1452
HP:0011069	Supernumerary tooth	51626	DYNC2LI1	OMIM:617088
HP:0011069	Supernumerary tooth	526	ATP6V1B2	ORPHA:3473
HP:0011069	Supernumerary tooth	3756	KCNH1	ORPHA:3473
HP:0011069	Supernumerary tooth	3782	KCNN3	ORPHA:3473
HP:0011069	Supernumerary tooth	9487	PIGL	ORPHA:3474
HP:0011069	Supernumerary tooth	865	CBFB	OMIM:620099
HP:0011061	Abnormality of dental structure	229	ALDOB	OMIM:229600
HP:0011061	Abnormality of dental structure	23394	ADNP	OMIM:615873
HP:0011061	Abnormality of dental structure	7681	MKRN3	OMIM:176270
HP:0011061	Abnormality of dental structure	3653	IPW	OMIM:176270
HP:0011061	Abnormality of dental structure	54551	MAGEL2	OMIM:176270
HP:0011061	Abnormality of dental structure	791114	PWRN1	OMIM:176270
HP:0011061	Abnormality of dental structure	100033413	SNORD116-1	OMIM:176270
HP:0011061	Abnormality of dental structure	8924	HERC2	OMIM:176270
HP:0011061	Abnormality of dental structure	145624	PWAR1	OMIM:176270
HP:0011061	Abnormality of dental structure	23742	NPAP1	OMIM:176270
HP:0011061	Abnormality of dental structure	338433	SNORD115-1	OMIM:176270
HP:0011061	Abnormality of dental structure	411	ARSB	OMIM:253200
HP:0011061	Abnormality of dental structure	10847	SRCAP	OMIM:136140
HP:0011061	Abnormality of dental structure	10847	SRCAP	ORPHA:2044
HP:0011061	Abnormality of dental structure	89910	UBE3B	OMIM:244450
HP:0011061	Abnormality of dental structure	123041	SLC24A4	OMIM:615887
HP:0011061	Abnormality of dental structure	6662	SOX9	OMIM:114290
HP:0011061	Abnormality of dental structure	10982	MAPRE2	OMIM:616734
HP:0011061	Abnormality of dental structure	162514	TRPV3	ORPHA:659
HP:0011061	Abnormality of dental structure	64065	PERP	ORPHA:659
HP:0011061	Abnormality of dental structure	9622	KLK4	OMIM:204700
HP:0011061	Abnormality of dental structure	79631	EFL1	ORPHA:811
HP:0011061	Abnormality of dental structure	51119	SBDS	ORPHA:811
HP:0011061	Abnormality of dental structure	6729	SRP54	ORPHA:811
HP:0011061	Abnormality of dental structure	1500	CTNND1	ORPHA:1997
HP:0011061	Abnormality of dental structure	999	CDH1	ORPHA:1997
HP:0011061	Abnormality of dental structure	2542	SLC37A4	ORPHA:79259
HP:0011061	Abnormality of dental structure	10484	SEC23A	ORPHA:50814
HP:0011061	Abnormality of dental structure	10484	SEC23A	OMIM:607812
HP:0011061	Abnormality of dental structure	7040	TGFB1	OMIM:131300
HP:0011061	Abnormality of dental structure	7040	TGFB1	ORPHA:1328
HP:0011061	Abnormality of dental structure	23545	ATP6V0A2	ORPHA:2834
HP:0011061	Abnormality of dental structure	23545	ATP6V0A2	OMIM:278250
HP:0011061	Abnormality of dental structure	23545	ATP6V0A2	OMIM:219200
HP:0011061	Abnormality of dental structure	23545	ATP6V0A2	ORPHA:357074
HP:0011061	Abnormality of dental structure	8546	AP3B1	OMIM:608233
HP:0011061	Abnormality of dental structure	1281	COL3A1	ORPHA:286
HP:0011061	Abnormality of dental structure	3977	LIFR	OMIM:601559
HP:0011061	Abnormality of dental structure	25	ABL1	OMIM:617602
HP:0011061	Abnormality of dental structure	8036	SHOC2	ORPHA:2701
HP:0011061	Abnormality of dental structure	5500	PPP1CB	ORPHA:2701
HP:0011061	Abnormality of dental structure	1009	CDH11	ORPHA:1299
HP:0011061	Abnormality of dental structure	1954	MEGF8	OMIM:614976
HP:0011061	Abnormality of dental structure	6638	SNRPN	ORPHA:177907
HP:0011061	Abnormality of dental structure	175	AGA	ORPHA:93
HP:0011061	Abnormality of dental structure	9244	CRLF1	OMIM:272430
HP:0011061	Abnormality of dental structure	84701	COX4I2	OMIM:612714
HP:0011061	Abnormality of dental structure	55131	RBM28	ORPHA:157954
HP:0011061	Abnormality of dental structure	55131	RBM28	OMIM:612079
HP:0011061	Abnormality of dental structure	6424	SFRP4	OMIM:265900
HP:0011061	Abnormality of dental structure	6628	SNRPB	OMIM:117650
HP:0011061	Abnormality of dental structure	249	ALPL	OMIM:146300
HP:0011061	Abnormality of dental structure	249	ALPL	OMIM:241510
HP:0011061	Abnormality of dental structure	79005	SCNM1	OMIM:620107
HP:0011061	Abnormality of dental structure	8085	KMT2D	OMIM:620186
HP:0011061	Abnormality of dental structure	5184	PEPD	ORPHA:742
HP:0011061	Abnormality of dental structure	55719	SLF2	OMIM:620184
HP:0011061	Abnormality of dental structure	283209	PGM2L1	OMIM:620191
HP:0011061	Abnormality of dental structure	51611	DPH5	OMIM:620070
HP:0011061	Abnormality of dental structure	79228	THOC6	ORPHA:363444
HP:0011061	Abnormality of dental structure	79228	THOC6	OMIM:613680
HP:0011061	Abnormality of dental structure	7750	ZMYM2	OMIM:619522
HP:0011061	Abnormality of dental structure	5075	PAX1	OMIM:615560
HP:0011061	Abnormality of dental structure	1280	COL2A1	ORPHA:93346
HP:0011061	Abnormality of dental structure	5727	PTCH1	ORPHA:377
HP:0011061	Abnormality of dental structure	8643	PTCH2	ORPHA:377
HP:0011061	Abnormality of dental structure	51684	SUFU	ORPHA:377
HP:0011061	Abnormality of dental structure	126792	B3GALT6	ORPHA:536467
HP:0011061	Abnormality of dental structure	5317	PKP1	ORPHA:158668
HP:0011061	Abnormality of dental structure	523	ATP6V1A	ORPHA:357074
HP:0011061	Abnormality of dental structure	529	ATP6V1E1	ORPHA:357074
HP:0011061	Abnormality of dental structure	166929	SGMS2	OMIM:126550
HP:0011061	Abnormality of dental structure	1186	CLCN7	ORPHA:53
HP:0011061	Abnormality of dental structure	7227	TRPS1	OMIM:190350
HP:0011061	Abnormality of dental structure	1235	CCR6	ORPHA:220393
HP:0011061	Abnormality of dental structure	1490	CCN2	ORPHA:220393
HP:0011061	Abnormality of dental structure	3663	IRF5	ORPHA:220393
HP:0011061	Abnormality of dental structure	857	CAV1	ORPHA:220393
HP:0011061	Abnormality of dental structure	3123	HLA-DRB1	ORPHA:220393
HP:0011061	Abnormality of dental structure	63901	FAM111A	ORPHA:93325
HP:0011061	Abnormality of dental structure	8600	TNFSF11	OMIM:259710
HP:0011061	Abnormality of dental structure	4322	MMP13	ORPHA:2501
HP:0011061	Abnormality of dental structure	1001	CDH3	ORPHA:1897
HP:0011061	Abnormality of dental structure	64388	GREM2	OMIM:617275
HP:0011061	Abnormality of dental structure	10117	ENAM	OMIM:204650
HP:0011061	Abnormality of dental structure	2972	BRF1	OMIM:616202
HP:0011061	Abnormality of dental structure	2972	BRF1	ORPHA:444072
HP:0011061	Abnormality of dental structure	4750	NEK1	ORPHA:2751
HP:0011061	Abnormality of dental structure	80169	CTC1	ORPHA:1775
HP:0011061	Abnormality of dental structure	26277	TINF2	ORPHA:1775
HP:0011061	Abnormality of dental structure	55651	NHP2	ORPHA:1775
HP:0011061	Abnormality of dental structure	79650	USB1	ORPHA:1775
HP:0011061	Abnormality of dental structure	55135	WRAP53	ORPHA:1775
HP:0011061	Abnormality of dental structure	51750	RTEL1	ORPHA:1775
HP:0011061	Abnormality of dental structure	4869	NPM1	ORPHA:1775
HP:0011061	Abnormality of dental structure	7012	TERC	ORPHA:1775
HP:0011061	Abnormality of dental structure	55505	NOP10	ORPHA:1775
HP:0011061	Abnormality of dental structure	5073	PARN	ORPHA:1775
HP:0011061	Abnormality of dental structure	7015	TERT	ORPHA:1775
HP:0011061	Abnormality of dental structure	1736	DKC1	ORPHA:1775
HP:0011061	Abnormality of dental structure	7298	TYMS	ORPHA:1775
HP:0011061	Abnormality of dental structure	2314	FLII	ORPHA:819
HP:0011061	Abnormality of dental structure	23096	IQSEC2	ORPHA:819
HP:0011061	Abnormality of dental structure	10743	RAI1	ORPHA:819
HP:0011061	Abnormality of dental structure	10522	DEAF1	ORPHA:819
HP:0011061	Abnormality of dental structure	7399	USH2A	ORPHA:231178
HP:0011061	Abnormality of dental structure	79955	PDZD7	ORPHA:231178
HP:0011061	Abnormality of dental structure	4647	MYO7A	ORPHA:231178
HP:0011061	Abnormality of dental structure	4647	MYO7A	ORPHA:231169
HP:0011061	Abnormality of dental structure	25861	WHRN	ORPHA:231178
HP:0011061	Abnormality of dental structure	84059	ADGRV1	ORPHA:231178
HP:0011061	Abnormality of dental structure	9871	SEC24D	ORPHA:2050
HP:0011061	Abnormality of dental structure	5034	P4HB	ORPHA:2050
HP:0011061	Abnormality of dental structure	64840	PORCN	ORPHA:2092
HP:0011061	Abnormality of dental structure	9791	PTDSS1	ORPHA:2658
HP:0011061	Abnormality of dental structure	9401	RECQL4	ORPHA:221016
HP:0011061	Abnormality of dental structure	9820	CUL7	ORPHA:2616
HP:0011061	Abnormality of dental structure	23363	OBSL1	ORPHA:2616
HP:0011061	Abnormality of dental structure	83987	CCDC8	ORPHA:2616
HP:0011061	Abnormality of dental structure	6804	STX1A	ORPHA:904
HP:0011061	Abnormality of dental structure	7461	CLIP2	ORPHA:904
HP:0011061	Abnormality of dental structure	84277	DNAJC30	ORPHA:904
HP:0011061	Abnormality of dental structure	8468	FKBP6	ORPHA:904
HP:0011061	Abnormality of dental structure	5982	RFC2	ORPHA:904
HP:0011061	Abnormality of dental structure	2969	GTF2I	ORPHA:904
HP:0011061	Abnormality of dental structure	3984	LIMK1	ORPHA:904
HP:0011061	Abnormality of dental structure	9569	GTF2IRD1	ORPHA:904
HP:0011061	Abnormality of dental structure	155382	VPS37D	ORPHA:904
HP:0011061	Abnormality of dental structure	155368	METTL27	ORPHA:904
HP:0011061	Abnormality of dental structure	114049	BUD23	ORPHA:904
HP:0011061	Abnormality of dental structure	7458	EIF4H	ORPHA:904
HP:0011061	Abnormality of dental structure	84163	GTF2IRD2	ORPHA:904
HP:0011061	Abnormality of dental structure	9275	BCL7B	ORPHA:904
HP:0011061	Abnormality of dental structure	26608	TBL2	ORPHA:904
HP:0011061	Abnormality of dental structure	653361	NCF1	ORPHA:904
HP:0011061	Abnormality of dental structure	135886	TMEM270	ORPHA:904
HP:0011061	Abnormality of dental structure	51085	MLXIPL	ORPHA:904
HP:0011061	Abnormality of dental structure	9031	BAZ1B	ORPHA:904
HP:0011061	Abnormality of dental structure	2006	ELN	ORPHA:904
HP:0011061	Abnormality of dental structure	5189	PEX1	ORPHA:3220
HP:0011061	Abnormality of dental structure	5190	PEX6	ORPHA:3220
HP:0011061	Abnormality of dental structure	5728	PTEN	ORPHA:744
HP:0011061	Abnormality of dental structure	207	AKT1	ORPHA:744
HP:0011061	Abnormality of dental structure	8517	IKBKG	ORPHA:464
HP:0011061	Abnormality of dental structure	84172	POLR1B	ORPHA:861
HP:0011061	Abnormality of dental structure	9533	POLR1C	ORPHA:861
HP:0011061	Abnormality of dental structure	51082	POLR1D	ORPHA:861
HP:0011061	Abnormality of dental structure	6949	TCOF1	ORPHA:861
HP:0011061	Abnormality of dental structure	63916	ELMO2	ORPHA:3019
HP:0011061	Abnormality of dental structure	26504	CNNM4	ORPHA:1873
HP:0011061	Abnormality of dental structure	6905	TBCE	ORPHA:2323
HP:0011061	Abnormality of dental structure	224	ALDH3A2	ORPHA:816
HP:0011061	Abnormality of dental structure	2263	FGFR2	ORPHA:2363
HP:0011061	Abnormality of dental structure	2261	FGFR3	ORPHA:2363
HP:0011061	Abnormality of dental structure	2255	FGF10	ORPHA:2363
HP:0011061	Abnormality of dental structure	1717	DHCR7	ORPHA:818
HP:0011061	Abnormality of dental structure	54757	FAM20A	ORPHA:1031
HP:0011061	Abnormality of dental structure	5818	NECTIN1	ORPHA:3253
HP:0011061	Abnormality of dental structure	9076	CLDN1	ORPHA:59303
HP:0011061	Abnormality of dental structure	57539	WDR35	ORPHA:1515
HP:0011061	Abnormality of dental structure	112752	IFT43	ORPHA:1515
HP:0011061	Abnormality of dental structure	51098	IFT52	ORPHA:1515
HP:0011061	Abnormality of dental structure	55764	IFT122	ORPHA:1515
HP:0011061	Abnormality of dental structure	57728	WDR19	ORPHA:1515
HP:0011061	Abnormality of dental structure	4952	OCRL	ORPHA:534
HP:0011061	Abnormality of dental structure	4038	LRP4	ORPHA:3258
HP:0011061	Abnormality of dental structure	324	APC	ORPHA:3258
HP:0011061	Abnormality of dental structure	5339	PLEC	ORPHA:257
HP:0011061	Abnormality of dental structure	5295	PIK3R1	ORPHA:3163
HP:0011061	Abnormality of dental structure	51360	MBTPS2	ORPHA:2273
HP:0011061	Abnormality of dental structure	55612	FERMT1	ORPHA:2908
HP:0011061	Abnormality of dental structure	4763	NF1	ORPHA:139474
HP:0011061	Abnormality of dental structure	10312	TCIRG1	ORPHA:1782
HP:0011061	Abnormality of dental structure	55315	SLC29A3	ORPHA:1782
HP:0011061	Abnormality of dental structure	8792	TNFRSF11A	ORPHA:1782
HP:0011061	Abnormality of dental structure	545	ATR	ORPHA:808
HP:0011061	Abnormality of dental structure	1062	CENPE	ORPHA:808
HP:0011061	Abnormality of dental structure	5116	PCNT	ORPHA:808
HP:0011061	Abnormality of dental structure	5932	RBBP8	ORPHA:808
HP:0011061	Abnormality of dental structure	79902	NUP85	ORPHA:808
HP:0011061	Abnormality of dental structure	84126	ATRIP	ORPHA:808
HP:0011061	Abnormality of dental structure	55835	CENPJ	ORPHA:808
HP:0011061	Abnormality of dental structure	10293	TRAIP	ORPHA:808
HP:0011061	Abnormality of dental structure	22995	CEP152	ORPHA:808
HP:0011061	Abnormality of dental structure	10733	PLK4	ORPHA:808
HP:0011061	Abnormality of dental structure	2248	FGF3	ORPHA:2791
HP:0011061	Abnormality of dental structure	284111	SLC13A5	ORPHA:1946
HP:0011061	Abnormality of dental structure	79641	ROGDI	ORPHA:1946
HP:0011061	Abnormality of dental structure	8481	OFD1	ORPHA:2750
HP:0011061	Abnormality of dental structure	1312	COMT	ORPHA:567
HP:0011061	Abnormality of dental structure	221037	JMJD1C	ORPHA:567
HP:0011061	Abnormality of dental structure	2812	GP1BB	ORPHA:567
HP:0011061	Abnormality of dental structure	6239	RREB1	ORPHA:567
HP:0011061	Abnormality of dental structure	6899	TBX1	ORPHA:567
HP:0011061	Abnormality of dental structure	7290	HIRA	ORPHA:567
HP:0011061	Abnormality of dental structure	9632	SEC24C	ORPHA:567
HP:0011061	Abnormality of dental structure	7353	UFD1	ORPHA:567
HP:0011061	Abnormality of dental structure	421	ARVCF	ORPHA:567
HP:0011061	Abnormality of dental structure	2697	GJA1	ORPHA:2710
HP:0011061	Abnormality of dental structure	54539	NDUFB11	ORPHA:2556
HP:0011061	Abnormality of dental structure	1349	COX7B	ORPHA:2556
HP:0011061	Abnormality of dental structure	3052	HCCS	ORPHA:2556
HP:0011061	Abnormality of dental structure	3265	HRAS	ORPHA:3071
HP:0011061	Abnormality of dental structure	64072	CDH23	ORPHA:231169
HP:0011061	Abnormality of dental structure	10083	USH1C	ORPHA:231169
HP:0011061	Abnormality of dental structure	124590	USH1G	ORPHA:231169
HP:0011061	Abnormality of dental structure	83715	ESPN	ORPHA:231169
HP:0011061	Abnormality of dental structure	10518	CIB2	ORPHA:231169
HP:0011061	Abnormality of dental structure	65217	PCDH15	ORPHA:231169
HP:0011061	Abnormality of dental structure	8626	TP63	ORPHA:1896
HP:0011061	Abnormality of dental structure	5144	PDE4D	ORPHA:439822
HP:0011061	Abnormality of dental structure	84818	IL17RC	ORPHA:1334
HP:0011061	Abnormality of dental structure	64581	CLEC7A	ORPHA:1334
HP:0011061	Abnormality of dental structure	23765	IL17RA	ORPHA:1334
HP:0011061	Abnormality of dental structure	10758	TRAF3IP2	ORPHA:1334
HP:0011061	Abnormality of dental structure	112744	IL17F	ORPHA:1334
HP:0011061	Abnormality of dental structure	860	RUNX2	ORPHA:1452
HP:0011061	Abnormality of dental structure	9361	LONP1	ORPHA:1458
HP:0011061	Abnormality of dental structure	64682	ANAPC1	ORPHA:221008
HP:0011061	Abnormality of dental structure	2720	GLB1	OMIM:253010
HP:0011061	Abnormality of dental structure	2588	GALNS	OMIM:253000
HP:0011061	Abnormality of dental structure	10269	ZMPSTE24	OMIM:608612
HP:0011061	Abnormality of dental structure	2316	FLNA	ORPHA:88630
HP:0011061	Abnormality of dental structure	10913	EDAR	ORPHA:248
HP:0011061	Abnormality of dental structure	1476	CSTB	ORPHA:248
HP:0011061	Abnormality of dental structure	6558	SLC12A2	OMIM:619080
HP:0011061	Abnormality of dental structure	23347	SMCHD1	OMIM:603457
HP:0011061	Abnormality of dental structure	374654	KIF7	OMIM:200990
HP:0011061	Abnormality of dental structure	4000	LMNA	OMIM:248370
HP:0011061	Abnormality of dental structure	93587	TRMT10A	ORPHA:391408
HP:0011061	Abnormality of dental structure	84919	PPP1R15B	ORPHA:391408
HP:0011061	Abnormality of dental structure	113246	C12orf57	OMIM:218340
HP:0011061	Abnormality of dental structure	9321	TRIP11	ORPHA:166272
HP:0011061	Abnormality of dental structure	9321	TRIP11	OMIM:184260
HP:0011061	Abnormality of dental structure	79879	CCDC134	OMIM:619795
HP:0011061	Abnormality of dental structure	84627	ZNF469	OMIM:229200
HP:0011061	Abnormality of dental structure	10491	CRTAP	OMIM:610682
HP:0011061	Abnormality of dental structure	5479	PPIB	OMIM:259440
HP:0011061	Abnormality of dental structure	1278	COL1A2	OMIM:259420
HP:0011061	Abnormality of dental structure	1278	COL1A2	OMIM:166220
HP:0011061	Abnormality of dental structure	6678	SPARC	OMIM:616507
HP:0011061	Abnormality of dental structure	387733	IFITM5	OMIM:610967
HP:0011061	Abnormality of dental structure	60681	FKBP10	OMIM:610968
HP:0011061	Abnormality of dental structure	375056	MIA3	OMIM:619269
HP:0011061	Abnormality of dental structure	5176	SERPINF1	OMIM:613982
HP:0011061	Abnormality of dental structure	649	BMP1	OMIM:614856
HP:0011061	Abnormality of dental structure	871	SERPINH1	OMIM:613848
HP:0011061	Abnormality of dental structure	121340	SP7	OMIM:613849
HP:0011061	Abnormality of dental structure	64175	P3H1	OMIM:610915
HP:0011061	Abnormality of dental structure	6603	SMARCD2	OMIM:617475
HP:0011061	Abnormality of dental structure	84876	ORAI1	OMIM:612782
HP:0011061	Abnormality of dental structure	8111	GPR68	OMIM:617217
HP:0011061	Abnormality of dental structure	6786	STIM1	OMIM:612783
HP:0011061	Abnormality of dental structure	286077	FAM83H	OMIM:130900
HP:0011061	Abnormality of dental structure	55858	TMEM165	OMIM:614727
HP:0011061	Abnormality of dental structure	4054	LTBP3	OMIM:601216
HP:0011061	Abnormality of dental structure	149461	CLDN19	OMIM:248190
HP:0011061	Abnormality of dental structure	401138	AMTN	OMIM:617607
HP:0011061	Abnormality of dental structure	1277	COL1A1	ORPHA:287
HP:0011061	Abnormality of dental structure	1289	COL5A1	ORPHA:287
HP:0011061	Abnormality of dental structure	1290	COL5A2	ORPHA:287
HP:0011061	Abnormality of dental structure	2591	GALNT3	OMIM:211900
HP:0011061	Abnormality of dental structure	1834	DSPP	OMIM:125420
HP:0011061	Abnormality of dental structure	265	AMELX	OMIM:301200
HP:0011061	Abnormality of dental structure	3691	ITGB4	OMIM:226730
HP:0011061	Abnormality of dental structure	3691	ITGB4	ORPHA:79403
HP:0011061	Abnormality of dental structure	3691	ITGB4	ORPHA:79402
HP:0011061	Abnormality of dental structure	3691	ITGB4	ORPHA:251393
HP:0011061	Abnormality of dental structure	1161	ERCC8	ORPHA:90324
HP:0011061	Abnormality of dental structure	1161	ERCC8	ORPHA:90321
HP:0011061	Abnormality of dental structure	1161	ERCC8	ORPHA:90322
HP:0011061	Abnormality of dental structure	1161	ERCC8	OMIM:216400
HP:0011061	Abnormality of dental structure	2074	ERCC6	ORPHA:90324
HP:0011061	Abnormality of dental structure	2074	ERCC6	ORPHA:90321
HP:0011061	Abnormality of dental structure	2074	ERCC6	ORPHA:90322
HP:0011061	Abnormality of dental structure	81607	NECTIN4	OMIM:613573
HP:0011061	Abnormality of dental structure	4010	LMX1B	ORPHA:2614
HP:0011061	Abnormality of dental structure	55746	NUP133	OMIM:618349
HP:0011061	Abnormality of dental structure	2778	GNAS	ORPHA:94089
HP:0011061	Abnormality of dental structure	2778	GNAS	OMIM:612463
HP:0011061	Abnormality of dental structure	2778	GNAS	OMIM:612462
HP:0011061	Abnormality of dental structure	2778	GNAS	ORPHA:79443
HP:0011061	Abnormality of dental structure	2778	GNAS	ORPHA:79444
HP:0011061	Abnormality of dental structure	2778	GNAS	OMIM:103580
HP:0011061	Abnormality of dental structure	8675	STX16	ORPHA:94089
HP:0011061	Abnormality of dental structure	2072	ERCC4	ORPHA:90321
HP:0011061	Abnormality of dental structure	2072	ERCC4	OMIM:610965
HP:0011061	Abnormality of dental structure	2067	ERCC1	ORPHA:90322
HP:0011061	Abnormality of dental structure	3655	ITGA6	ORPHA:79403
HP:0011061	Abnormality of dental structure	3909	LAMA3	ORPHA:79404
HP:0011061	Abnormality of dental structure	3909	LAMA3	OMIM:245660
HP:0011061	Abnormality of dental structure	3909	LAMA3	ORPHA:79402
HP:0011061	Abnormality of dental structure	3909	LAMA3	OMIM:226700
HP:0011061	Abnormality of dental structure	3918	LAMC2	ORPHA:79404
HP:0011061	Abnormality of dental structure	3918	LAMC2	ORPHA:79402
HP:0011061	Abnormality of dental structure	3918	LAMC2	OMIM:226700
HP:0011061	Abnormality of dental structure	3914	LAMB3	ORPHA:79404
HP:0011061	Abnormality of dental structure	3914	LAMB3	OMIM:104530
HP:0011061	Abnormality of dental structure	3914	LAMB3	ORPHA:79402
HP:0011061	Abnormality of dental structure	3914	LAMB3	OMIM:226650
HP:0011061	Abnormality of dental structure	3914	LAMB3	OMIM:226700
HP:0011061	Abnormality of dental structure	1308	COL17A1	ORPHA:79406
HP:0011061	Abnormality of dental structure	1308	COL17A1	ORPHA:79402
HP:0011061	Abnormality of dental structure	1308	COL17A1	ORPHA:251393
HP:0011061	Abnormality of dental structure	4312	MMP1	ORPHA:79408
HP:0011061	Abnormality of dental structure	4312	MMP1	OMIM:226600
HP:0011061	Abnormality of dental structure	1294	COL7A1	ORPHA:79408
HP:0011061	Abnormality of dental structure	1294	COL7A1	ORPHA:79409
HP:0011061	Abnormality of dental structure	1294	COL7A1	OMIM:226600
HP:0011061	Abnormality of dental structure	1294	COL7A1	ORPHA:79410
HP:0011061	Abnormality of dental structure	1294	COL7A1	ORPHA:79411
HP:0011061	Abnormality of dental structure	57511	COG6	ORPHA:363523
HP:0011061	Abnormality of dental structure	57511	COG6	OMIM:614576
HP:0011061	Abnormality of dental structure	57511	COG6	OMIM:615328
HP:0011061	Abnormality of dental structure	80055	PGAP1	OMIM:615802
HP:0011061	Abnormality of dental structure	152816	ODAPH	OMIM:614832
HP:0011061	Abnormality of dental structure	56975	FAM20C	OMIM:259775
HP:0011061	Abnormality of dental structure	6595	SMARCA2	OMIM:619293
HP:0011061	Abnormality of dental structure	3694	ITGB6	OMIM:616221
HP:0011061	Abnormality of dental structure	84068	SLC10A7	OMIM:618363
HP:0011061	Abnormality of dental structure	10265	IRX5	OMIM:611174
HP:0011061	Abnormality of dental structure	3117	HLA-DQA1	OMIM:212750
HP:0011061	Abnormality of dental structure	3119	HLA-DQB1	OMIM:212750
HP:0011061	Abnormality of dental structure	3759	KCNJ2	OMIM:170390
HP:0011061	Abnormality of dental structure	222663	SCUBE3	OMIM:619184
HP:0011061	Abnormality of dental structure	1594	CYP27B1	OMIM:264700
HP:0011061	Abnormality of dental structure	1594	CYP27B1	ORPHA:289157
HP:0011061	Abnormality of dental structure	7421	VDR	OMIM:277440
HP:0011061	Abnormality of dental structure	4591	TRIM37	OMIM:253250
HP:0011061	Abnormality of dental structure	2783	GNB2	OMIM:619503
HP:0011061	Abnormality of dental structure	6304	SATB1	OMIM:619229
HP:0011061	Abnormality of dental structure	93650	ACP4	OMIM:617297
HP:0011061	Abnormality of dental structure	57217	TTC7A	OMIM:243150
HP:0011061	Abnormality of dental structure	134218	DNAJC21	OMIM:617052
HP:0011061	Abnormality of dental structure	120227	CYP2R1	ORPHA:289157
HP:0011061	Abnormality of dental structure	1387	CREBBP	OMIM:180849
HP:0011061	Abnormality of dental structure	2033	EP300	OMIM:180849
HP:0011061	Abnormality of dental structure	80320	SP6	OMIM:620104
HP:0011061	Abnormality of dental structure	83479	DDX59	ORPHA:2919
HP:0011061	Abnormality of dental structure	7355	SLC35A2	OMIM:300896
HP:0011061	Abnormality of dental structure	326	AIRE	OMIM:240300
HP:0011061	Abnormality of dental structure	79977	GRHL2	OMIM:616029
HP:0011061	Abnormality of dental structure	387	RHOA	OMIM:618727
HP:0011061	Abnormality of dental structure	23219	FBXO28	OMIM:619777
HP:0011061	Abnormality of dental structure	1107	CHD3	OMIM:618205
HP:0011061	Abnormality of dental structure	404672	GTF2H5	ORPHA:33364
HP:0011061	Abnormality of dental structure	833	CARS1	ORPHA:33364
HP:0011061	Abnormality of dental structure	2068	ERCC2	ORPHA:33364
HP:0011061	Abnormality of dental structure	7737	RNF113A	ORPHA:33364
HP:0011061	Abnormality of dental structure	136647	MPLKIP	ORPHA:33364
HP:0011061	Abnormality of dental structure	6897	TARS1	ORPHA:33364
HP:0011061	Abnormality of dental structure	2071	ERCC3	ORPHA:33364
HP:0011061	Abnormality of dental structure	2961	GTF2E2	ORPHA:33364
HP:0011061	Abnormality of dental structure	2317	FLNB	OMIM:272460
HP:0011061	Abnormality of dental structure	1487	CTBP1	OMIM:617915
HP:0011061	Abnormality of dental structure	2260	FGFR1	ORPHA:99798
HP:0011061	Abnormality of dental structure	4487	MSX1	ORPHA:99798
HP:0011061	Abnormality of dental structure	128178	EDARADD	ORPHA:99798
HP:0011061	Abnormality of dental structure	5083	PAX9	ORPHA:99798
HP:0011061	Abnormality of dental structure	7341	SUMO1	ORPHA:99798
HP:0011061	Abnormality of dental structure	80326	WNT10A	ORPHA:99798
HP:0011061	Abnormality of dental structure	1896	EDA	ORPHA:99798
HP:0011061	Abnormality of dental structure	8313	AXIN2	ORPHA:99798
HP:0011061	Abnormality of dental structure	3664	IRF6	ORPHA:99798
HP:0011061	Abnormality of dental structure	4040	LRP6	ORPHA:99798
HP:0011061	Abnormality of dental structure	7039	TGFA	ORPHA:99798
HP:0011061	Abnormality of dental structure	7480	WNT10B	ORPHA:99798
HP:0011061	Abnormality of dental structure	5286	PIK3C2A	ORPHA:557003
HP:0011061	Abnormality of dental structure	1513	CTSK	ORPHA:763
HP:0011061	Abnormality of dental structure	258	AMBN	OMIM:616270
HP:0011061	Abnormality of dental structure	3861	KRT14	ORPHA:69087
HP:0011061	Abnormality of dental structure	3861	KRT14	ORPHA:79396
HP:0011061	Abnormality of dental structure	5062	PAK2	OMIM:618458
HP:0011061	Abnormality of dental structure	3852	KRT5	ORPHA:79396
HP:0011061	Abnormality of dental structure	7703	PCGF2	OMIM:618371
HP:0011061	Abnormality of dental structure	197131	UBR1	OMIM:243800
HP:0011061	Abnormality of dental structure	64094	SMOC2	OMIM:125400
HP:0011061	Abnormality of dental structure	64135	IFIH1	OMIM:182250
HP:0011061	Abnormality of dental structure	7248	TSC1	OMIM:191100
HP:0011061	Abnormality of dental structure	9896	FIG4	ORPHA:3472
HP:0011061	Abnormality of dental structure	55697	VAC14	ORPHA:3472
HP:0011061	Abnormality of dental structure	7840	ALMS1	ORPHA:64
HP:0011061	Abnormality of dental structure	3845	KRAS	OMIM:163200
HP:0011061	Abnormality of dental structure	4893	NRAS	OMIM:163200
HP:0011061	Abnormality of dental structure	3762	KCNJ5	ORPHA:37553
HP:0011061	Abnormality of dental structure	84957	RELT	OMIM:618386
HP:0011061	Abnormality of dental structure	256764	WDR72	OMIM:613211
HP:0011061	Abnormality of dental structure	7390	UROS	OMIM:263700
HP:0011061	Abnormality of dental structure	7390	UROS	ORPHA:79277
HP:0011061	Abnormality of dental structure	2623	GATA1	ORPHA:79277
HP:0011061	Abnormality of dental structure	7389	UROD	ORPHA:95159
HP:0011061	Abnormality of dental structure	4914	NTRK1	ORPHA:642
HP:0011061	Abnormality of dental structure	5251	PHEX	ORPHA:89936
HP:0011061	Abnormality of dental structure	8074	FGF23	ORPHA:89937
HP:0011061	Abnormality of dental structure	1758	DMP1	ORPHA:289176
HP:0011061	Abnormality of dental structure	5167	ENPP1	ORPHA:289176
HP:0011061	Abnormality of dental structure	1991	ELANE	ORPHA:2686
HP:0011061	Abnormality of dental structure	1747	DLX3	ORPHA:3352
HP:0011061	Abnormality of dental structure	5885	RAD21	OMIM:614701
HP:0011061	Abnormality of dental structure	9313	MMP20	OMIM:612529
HP:0011068	Odontoma	324	APC	OMIM:175100
HP:0011068	Odontoma	324	APC	ORPHA:247806
HP:0011068	Odontoma	324	APC	ORPHA:79665
HP:0011068	Odontoma	2248	FGF3	ORPHA:2791
HP:0011067	Mesiodens	22827	PUF60	ORPHA:508488
HP:0011067	Mesiodens	5457	POU4F1	ORPHA:314647
HP:0011067	Mesiodens	23261	CAMTA1	ORPHA:314647
HP:0011060	Dentinogenesis imperfecta limited to primary teeth	1834	DSPP	OMIM:125420
HP:0001633	Abnormal mitral valve morphology	79158	GNPTAB	ORPHA:576
HP:0001633	Abnormal mitral valve morphology	7092	TLL1	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	57057	TBX20	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	4624	MYH6	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	70	ACTC1	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	10370	CITED2	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	2626	GATA4	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	2627	GATA6	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	6197	RPS6KA3	ORPHA:192
HP:0001633	Abnormal mitral valve morphology	3423	IDS	ORPHA:217085
HP:0001633	Abnormal mitral valve morphology	3423	IDS	ORPHA:217093
HP:0001633	Abnormal mitral valve morphology	9897	WASHC5	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	28952	CCDC22	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	64132	XYLT2	OMIM:605822
HP:0001633	Abnormal mitral valve morphology	64132	XYLT2	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	2137	EXTL3	ORPHA:508533
HP:0001633	Abnormal mitral valve morphology	57190	SELENON	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	4625	MYH7	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	7273	TTN	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	8216	LZTR1	OMIM:616564
HP:0001633	Abnormal mitral valve morphology	9158	FIBP	ORPHA:500095
HP:0001633	Abnormal mitral valve morphology	9158	FIBP	OMIM:617107
HP:0001633	Abnormal mitral valve morphology	8076	MFAP5	OMIM:616166
HP:0001633	Abnormal mitral valve morphology	84627	ZNF469	OMIM:229200
HP:0001633	Abnormal mitral valve morphology	84627	ZNF469	ORPHA:90354
HP:0001633	Abnormal mitral valve morphology	7148	TNXB	ORPHA:230839
HP:0001633	Abnormal mitral valve morphology	7148	TNXB	OMIM:606408
HP:0001633	Abnormal mitral valve morphology	2972	BRF1	OMIM:616202
HP:0001633	Abnormal mitral valve morphology	2972	BRF1	ORPHA:444072
HP:0001633	Abnormal mitral valve morphology	23394	ADNP	OMIM:615873
HP:0001633	Abnormal mitral valve morphology	5428	POLG	OMIM:258450
HP:0001633	Abnormal mitral valve morphology	5428	POLG	OMIM:607459
HP:0001633	Abnormal mitral valve morphology	10021	HCN4	OMIM:163800
HP:0001633	Abnormal mitral valve morphology	55315	SLC29A3	OMIM:602782
HP:0001633	Abnormal mitral valve morphology	4054	LTBP3	OMIM:601216
HP:0001633	Abnormal mitral valve morphology	1278	COL1A2	ORPHA:230851
HP:0001633	Abnormal mitral valve morphology	1278	COL1A2	OMIM:225320
HP:0001633	Abnormal mitral valve morphology	2201	FBN2	OMIM:121050
HP:0001633	Abnormal mitral valve morphology	2201	FBN2	ORPHA:115
HP:0001633	Abnormal mitral valve morphology	10216	PRG4	ORPHA:2848
HP:0001633	Abnormal mitral valve morphology	1281	COL3A1	OMIM:130050
HP:0001633	Abnormal mitral valve morphology	1281	COL3A1	ORPHA:286
HP:0001633	Abnormal mitral valve morphology	51726	DNAJB11	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	23193	GANAB	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	5310	PKD1	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	5310	PKD1	OMIM:173900
HP:0001633	Abnormal mitral valve morphology	5311	PKD2	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	29880	ALG5	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	9742	IFT140	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	79796	ALG9	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	80114	BICC1	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	3074	HEXB	ORPHA:309155
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	ORPHA:449291
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	OMIM:300624
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	ORPHA:908
HP:0001633	Abnormal mitral valve morphology	8642	DCHS1	OMIM:607829
HP:0001633	Abnormal mitral valve morphology	84665	MYPN	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	7169	TPM2	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	7170	TPM3	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	165	AEBP1	OMIM:618000
HP:0001633	Abnormal mitral valve morphology	165	AEBP1	ORPHA:536532
HP:0001633	Abnormal mitral valve morphology	54880	BCOR	ORPHA:2712
HP:0001633	Abnormal mitral valve morphology	54880	BCOR	OMIM:300166
HP:0001633	Abnormal mitral valve morphology	9968	MED12	ORPHA:93932
HP:0001633	Abnormal mitral valve morphology	29940	DSE	OMIM:615539
HP:0001633	Abnormal mitral valve morphology	5351	PLOD1	ORPHA:1900
HP:0001633	Abnormal mitral valve morphology	54539	NDUFB11	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	1349	COX7B	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	3052	HCCS	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	157680	VPS13B	OMIM:216550
HP:0001633	Abnormal mitral valve morphology	157680	VPS13B	ORPHA:193
HP:0001633	Abnormal mitral valve morphology	4313	MMP2	ORPHA:371428
HP:0001633	Abnormal mitral valve morphology	4313	MMP2	OMIM:259600
HP:0001633	Abnormal mitral valve morphology	4323	MMP14	ORPHA:371428
HP:0001633	Abnormal mitral valve morphology	1277	COL1A1	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	1277	COL1A1	OMIM:166200
HP:0001633	Abnormal mitral valve morphology	1289	COL5A1	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	1289	COL5A1	OMIM:130000
HP:0001633	Abnormal mitral valve morphology	1290	COL5A2	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	3265	HRAS	ORPHA:3071
HP:0001633	Abnormal mitral valve morphology	3265	HRAS	OMIM:218040
HP:0001633	Abnormal mitral valve morphology	7703	PCGF2	OMIM:618371
HP:0001633	Abnormal mitral valve morphology	56776	FMN2	OMIM:616193
HP:0001633	Abnormal mitral valve morphology	26278	SACS	ORPHA:98
HP:0001633	Abnormal mitral valve morphology	4763	NF1	ORPHA:363700
HP:0001633	Abnormal mitral valve morphology	1193	CLIC2	ORPHA:324410
HP:0001633	Abnormal mitral valve morphology	633	BGN	OMIM:300989
HP:0001633	Abnormal mitral valve morphology	3188	HNRNPH2	OMIM:300986
HP:0001633	Abnormal mitral valve morphology	1280	COL2A1	ORPHA:90653
HP:0001633	Abnormal mitral valve morphology	1280	COL2A1	OMIM:108300
HP:0001633	Abnormal mitral valve morphology	200734	SPRED2	OMIM:619745
HP:0001633	Abnormal mitral valve morphology	4089	SMAD4	OMIM:175050
HP:0001633	Abnormal mitral valve morphology	6885	MAP3K7	ORPHA:3238
HP:0001633	Abnormal mitral valve morphology	5337	PLD1	OMIM:212093
HP:0001633	Abnormal mitral valve morphology	6261	RYR1	ORPHA:597
HP:0001633	Abnormal mitral valve morphology	7450	VWF	OMIM:193400
HP:0001633	Abnormal mitral valve morphology	10526	IPO8	OMIM:619472
HP:0001633	Abnormal mitral valve morphology	1387	CREBBP	OMIM:180849
HP:0001633	Abnormal mitral valve morphology	2033	EP300	OMIM:180849
HP:0001633	Abnormal mitral valve morphology	6125	RPL5	OMIM:612561
HP:0001633	Abnormal mitral valve morphology	3845	KRAS	OMIM:615278
HP:0001633	Abnormal mitral valve morphology	3845	KRAS	OMIM:609942
HP:0001633	Abnormal mitral valve morphology	6804	STX1A	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	7461	CLIP2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	84277	DNAJC30	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	8468	FKBP6	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	5982	RFC2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	2969	GTF2I	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	3984	LIMK1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	9569	GTF2IRD1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	155382	VPS37D	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	155368	METTL27	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	114049	BUD23	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	7458	EIF4H	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	84163	GTF2IRD2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	9275	BCL7B	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	26608	TBL2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	653361	NCF1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	135886	TMEM270	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	9031	BAZ1B	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001633	Abnormal mitral valve morphology	285590	SH3PXD2B	OMIM:249420
HP:0001633	Abnormal mitral valve morphology	286	ANK1	ORPHA:251066
HP:0001633	Abnormal mitral valve morphology	5781	PTPN11	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	5781	PTPN11	OMIM:151100
HP:0001633	Abnormal mitral valve morphology	673	BRAF	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	5894	RAF1	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	113189	CHST14	OMIM:601776
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	OMIM:177850
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	ORPHA:758
HP:0001633	Abnormal mitral valve morphology	64131	XYLT1	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	5594	MAPK1	OMIM:619087
HP:0001633	Abnormal mitral valve morphology	10551	AGR2	OMIM:620233
HP:0001633	Abnormal mitral valve morphology	11107	PRDM5	ORPHA:90354
HP:0001633	Abnormal mitral valve morphology	6497	SKI	OMIM:182212
HP:0001633	Abnormal mitral valve morphology	6497	SKI	ORPHA:2462
HP:0001633	Abnormal mitral valve morphology	126792	B3GALT6	ORPHA:536467
HP:0001633	Abnormal mitral valve morphology	4088	SMAD3	OMIM:613795
HP:0001633	Abnormal mitral valve morphology	7048	TGFBR2	OMIM:610168
HP:0001633	Abnormal mitral valve morphology	22873	DZIP1	OMIM:610840
HP:0001633	Abnormal mitral valve morphology	6533	SLC6A6	OMIM:145350
HP:0001633	Abnormal mitral valve morphology	875	CBS	OMIM:236200
HP:0001633	Abnormal mitral valve morphology	9469	CHST3	OMIM:245600
HP:0001633	Abnormal mitral valve morphology	26229	B3GAT3	OMIM:245600
HP:0001633	Abnormal mitral valve morphology	56652	TWNK	OMIM:607459
HP:0001633	Abnormal mitral valve morphology	4883	NPR3	OMIM:619543
HP:0001633	Abnormal mitral valve morphology	529	ATP6V1E1	OMIM:617402
HP:0001633	Abnormal mitral valve morphology	7046	TGFBR1	OMIM:609192
HP:0001633	Abnormal mitral valve morphology	5167	ENPP1	ORPHA:758
HP:0001633	Abnormal mitral valve morphology	161742	SPRED1	ORPHA:137605
HP:0001633	Abnormal mitral valve morphology	7042	TGFB2	OMIM:614816
HP:0001633	Abnormal mitral valve morphology	3081	HGD	ORPHA:56
HP:0001633	Abnormal mitral valve morphology	3081	HGD	OMIM:203500
HP:0001633	Abnormal mitral valve morphology	64135	IFIH1	OMIM:182250
HP:0001633	Abnormal mitral valve morphology	4000	LMNA	ORPHA:363618
HP:0001633	Abnormal mitral valve morphology	4000	LMNA	ORPHA:740
HP:0001633	Abnormal mitral valve morphology	10269	ZMPSTE24	ORPHA:740
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	OMIM:231005
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	ORPHA:77261
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	ORPHA:2072
HP:0001633	Abnormal mitral valve morphology	10568	SLC34A2	ORPHA:60025
HP:0001633	Abnormal mitral valve morphology	10651	MTX2	OMIM:619127
HP:0001633	Abnormal mitral valve morphology	51085	MLXIPL	OMIM:194050
HP:0001633	Abnormal mitral valve morphology	2006	ELN	OMIM:194050
HP:0001633	Abnormal mitral valve morphology	23118	TAB2	OMIM:614980
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:154700
HP:0001633	Abnormal mitral valve morphology	7547	ZIC3	OMIM:306955
HP:0001633	Abnormal mitral valve morphology	10128	LRPPRC	OMIM:220111
HP:0001633	Abnormal mitral valve morphology	84231	TRAF7	OMIM:618164
HP:0001633	Abnormal mitral valve morphology	92002	CCNQ	ORPHA:140952
HP:0001633	Abnormal mitral valve morphology	2697	GJA1	ORPHA:2248
HP:0001633	Abnormal mitral valve morphology	1482	NKX2-5	ORPHA:2248
HP:0001633	Abnormal mitral valve morphology	1482	NKX2-5	OMIM:614435
HP:0001633	Abnormal mitral valve morphology	55784	MCTP2	ORPHA:1596
HP:0001633	Abnormal mitral valve morphology	2783	GNB2	OMIM:619503
HP:0001633	Abnormal mitral valve morphology	118856	MMP21	OMIM:616749
HP:0001633	Abnormal mitral valve morphology	4851	NOTCH1	OMIM:109730
HP:0001633	Abnormal mitral valve morphology	6597	SMARCA4	OMIM:614609
HP:0001633	Abnormal mitral valve morphology	2294	FOXF1	OMIM:265380
HP:0001633	Abnormal mitral valve morphology	9772	TMEM94	OMIM:618316
HP:0001633	Abnormal mitral valve morphology	2316	FLNA	OMIM:314400
HP:0000580	Pigmentary retinopathy	2074	ERCC6	OMIM:133540
HP:0000580	Pigmentary retinopathy	2074	ERCC6	ORPHA:90321
HP:0000580	Pigmentary retinopathy	1497	CTNS	OMIM:219800
HP:0000580	Pigmentary retinopathy	1497	CTNS	ORPHA:411629
HP:0000580	Pigmentary retinopathy	4558	MT-TF	ORPHA:550
HP:0000580	Pigmentary retinopathy	4572	MT-TQ	ORPHA:550
HP:0000580	Pigmentary retinopathy	4512	MT-CO1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4513	MT-CO2	ORPHA:550
HP:0000580	Pigmentary retinopathy	4514	MT-CO3	ORPHA:550
HP:0000580	Pigmentary retinopathy	4578	MT-TW	ORPHA:550
HP:0000580	Pigmentary retinopathy	4578	MT-TW	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4540	MT-ND5	ORPHA:550
HP:0000580	Pigmentary retinopathy	4540	MT-ND5	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4541	MT-ND6	ORPHA:550
HP:0000580	Pigmentary retinopathy	4541	MT-ND6	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4535	MT-ND1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4535	MT-ND1	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4538	MT-ND4	ORPHA:550
HP:0000580	Pigmentary retinopathy	4538	MT-ND4	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4567	MT-TL1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4567	MT-TL1	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4574	MT-TS1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4574	MT-TS1	OMIM:220110
HP:0000580	Pigmentary retinopathy	4575	MT-TS2	ORPHA:550
HP:0000580	Pigmentary retinopathy	4564	MT-TH	ORPHA:550
HP:0000580	Pigmentary retinopathy	54892	NCAPG2	OMIM:618460
HP:0000580	Pigmentary retinopathy	4570	MT-TN	OMIM:220110
HP:0000580	Pigmentary retinopathy	6834	SURF1	OMIM:220110
HP:0000580	Pigmentary retinopathy	6834	SURF1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	583	BBS2	OMIM:616562
HP:0000580	Pigmentary retinopathy	583	BBS2	ORPHA:110
HP:0000580	Pigmentary retinopathy	246243	RNASEH1	ORPHA:329336
HP:0000580	Pigmentary retinopathy	84334	COA8	ORPHA:436271
HP:0000580	Pigmentary retinopathy	23600	AMACR	OMIM:614307
HP:0000580	Pigmentary retinopathy	23600	AMACR	ORPHA:79095
HP:0000580	Pigmentary retinopathy	5830	PEX5	OMIM:214110
HP:0000580	Pigmentary retinopathy	5961	PRPH2	OMIM:608133
HP:0000580	Pigmentary retinopathy	5961	PRPH2	ORPHA:52427
HP:0000580	Pigmentary retinopathy	6094	ROM1	OMIM:608133
HP:0000580	Pigmentary retinopathy	1161	ERCC8	ORPHA:90321
HP:0000580	Pigmentary retinopathy	1161	ERCC8	OMIM:216400
HP:0000580	Pigmentary retinopathy	2072	ERCC4	ORPHA:90321
HP:0000580	Pigmentary retinopathy	4536	MT-ND2	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4537	MT-ND3	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4577	MT-TV	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4508	MT-ATP6	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4566	MT-TK	ORPHA:255210
HP:0000580	Pigmentary retinopathy	51103	NDUFAF1	OMIM:618234
HP:0000580	Pigmentary retinopathy	100151683	RNU4ATAC	OMIM:226960
HP:0000580	Pigmentary retinopathy	10908	PNPLA6	OMIM:275400
HP:0000580	Pigmentary retinopathy	10908	PNPLA6	OMIM:245800
HP:0000580	Pigmentary retinopathy	55768	NGLY1	ORPHA:404454
HP:0000580	Pigmentary retinopathy	5189	PEX1	OMIM:214100
HP:0000580	Pigmentary retinopathy	6314	ATXN7	OMIM:164500
HP:0000580	Pigmentary retinopathy	29925	GMPPB	ORPHA:370968
HP:0000580	Pigmentary retinopathy	79147	FKRP	ORPHA:370968
HP:0000580	Pigmentary retinopathy	29954	POMT2	ORPHA:370968
HP:0000580	Pigmentary retinopathy	29954	POMT2	OMIM:613156
HP:0000580	Pigmentary retinopathy	9215	LARGE1	ORPHA:370968
HP:0000580	Pigmentary retinopathy	9215	LARGE1	OMIM:613154
HP:0000580	Pigmentary retinopathy	10585	POMT1	ORPHA:370968
HP:0000580	Pigmentary retinopathy	1351	COX8A	OMIM:619059
HP:0000580	Pigmentary retinopathy	55154	MSTO1	OMIM:617675
HP:0000580	Pigmentary retinopathy	55154	MSTO1	ORPHA:502423
HP:0000580	Pigmentary retinopathy	80201	HKDC1	OMIM:619614
HP:0000580	Pigmentary retinopathy	1201	CLN3	ORPHA:228346
HP:0000580	Pigmentary retinopathy	7840	ALMS1	OMIM:203800
HP:0000580	Pigmentary retinopathy	6102	RP2	OMIM:312600
HP:0000580	Pigmentary retinopathy	54806	AHI1	OMIM:608629
HP:0000580	Pigmentary retinopathy	80324	PUS1	OMIM:600462
HP:0000580	Pigmentary retinopathy	10002	NR2E3	OMIM:268100
HP:0000580	Pigmentary retinopathy	10002	NR2E3	OMIM:611131
HP:0000580	Pigmentary retinopathy	7466	WFS1	OMIM:222300
HP:0000580	Pigmentary retinopathy	857	CAV1	OMIM:606721
HP:0000580	Pigmentary retinopathy	51102	MECR	OMIM:617282
HP:0000580	Pigmentary retinopathy	55857	KIZ	OMIM:615780
HP:0000580	Pigmentary retinopathy	4591	TRIM37	OMIM:253250
HP:0000580	Pigmentary retinopathy	2071	ERCC3	OMIM:610651
HP:0000580	Pigmentary retinopathy	8195	MKKS	OMIM:605231
HP:0000580	Pigmentary retinopathy	8195	MKKS	ORPHA:110
HP:0000580	Pigmentary retinopathy	92482	BBIP1	ORPHA:110
HP:0000580	Pigmentary retinopathy	80184	CEP290	ORPHA:110
HP:0000580	Pigmentary retinopathy	11020	IFT27	ORPHA:110
HP:0000580	Pigmentary retinopathy	4867	NPHP1	ORPHA:110
HP:0000580	Pigmentary retinopathy	51057	WDPCP	ORPHA:110
HP:0000580	Pigmentary retinopathy	84984	CEP19	ORPHA:110
HP:0000580	Pigmentary retinopathy	22954	TRIM32	ORPHA:110
HP:0000580	Pigmentary retinopathy	79738	BBS10	ORPHA:110
HP:0000580	Pigmentary retinopathy	26160	IFT172	ORPHA:110
HP:0000580	Pigmentary retinopathy	585	BBS4	ORPHA:110
HP:0000580	Pigmentary retinopathy	55212	BBS7	ORPHA:110
HP:0000580	Pigmentary retinopathy	166379	BBS12	ORPHA:110
HP:0000580	Pigmentary retinopathy	10806	SDCCAG8	ORPHA:110
HP:0000580	Pigmentary retinopathy	129880	BBS5	ORPHA:110
HP:0000580	Pigmentary retinopathy	80173	IFT74	ORPHA:110
HP:0000580	Pigmentary retinopathy	1349	COX7B	OMIM:309801
HP:0000580	Pigmentary retinopathy	3052	HCCS	OMIM:309801
HP:0000580	Pigmentary retinopathy	54539	NDUFB11	OMIM:309801
HP:0000580	Pigmentary retinopathy	100996717	NOTCH2NLC	OMIM:619473
HP:0000580	Pigmentary retinopathy	81689	ISCA1	OMIM:617613
HP:0000580	Pigmentary retinopathy	285440	CYP4V2	ORPHA:41751
HP:0000580	Pigmentary retinopathy	5828	PEX2	OMIM:614866
HP:0000580	Pigmentary retinopathy	3032	HADHB	ORPHA:746
HP:0000580	Pigmentary retinopathy	3030	HADHA	ORPHA:746
HP:0000580	Pigmentary retinopathy	3030	HADHA	OMIM:609015
HP:0000580	Pigmentary retinopathy	3030	HADHA	OMIM:609016
HP:0000580	Pigmentary retinopathy	80025	PANK2	OMIM:234200
HP:0000580	Pigmentary retinopathy	80025	PANK2	ORPHA:216866
HP:0000580	Pigmentary retinopathy	5959	RDH5	ORPHA:52427
HP:0000580	Pigmentary retinopathy	200894	ARL13B	OMIM:612291
HP:0000580	Pigmentary retinopathy	3420	IDH3B	OMIM:612572
HP:0000580	Pigmentary retinopathy	182	JAG1	OMIM:118450
HP:0000580	Pigmentary retinopathy	7078	TIMP3	ORPHA:59181
HP:0000580	Pigmentary retinopathy	256471	MFSD8	OMIM:610951
HP:0000580	Pigmentary retinopathy	3033	HADH	ORPHA:71212
HP:0000580	Pigmentary retinopathy	11128	POLR3A	ORPHA:3455
HP:0000580	Pigmentary retinopathy	9968	MED12	OMIM:301068
HP:0000580	Pigmentary retinopathy	51	ACOX1	OMIM:264470
HP:0000580	Pigmentary retinopathy	6389	SDHA	ORPHA:255241
HP:0000580	Pigmentary retinopathy	6389	SDHA	ORPHA:3208
HP:0000580	Pigmentary retinopathy	6389	SDHA	OMIM:252011
HP:0000580	Pigmentary retinopathy	80704	SLC19A3	ORPHA:255241
HP:0000580	Pigmentary retinopathy	91942	NDUFAF2	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4723	NDUFV1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	55572	FOXRED1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4729	NDUFV2	ORPHA:255241
HP:0000580	Pigmentary retinopathy	55967	NDUFA12	ORPHA:255241
HP:0000580	Pigmentary retinopathy	51204	TACO1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4720	NDUFS2	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4724	NDUFS4	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4728	NDUFS8	ORPHA:255241
HP:0000580	Pigmentary retinopathy	137682	NDUFAF6	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4722	NDUFS3	ORPHA:255241
HP:0000580	Pigmentary retinopathy	79133	NDUFAF5	ORPHA:255241
HP:0000580	Pigmentary retinopathy	5160	PDHA1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	100131801	PET100	ORPHA:255241
HP:0000580	Pigmentary retinopathy	1355	COX15	ORPHA:255241
HP:0000580	Pigmentary retinopathy	1892	ECHS1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	123263	MTFMT	ORPHA:255241
HP:0000580	Pigmentary retinopathy	51079	NDUFA13	ORPHA:255241
HP:0000580	Pigmentary retinopathy	374291	NDUFS7	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4705	NDUFA10	ORPHA:255241
HP:0000580	Pigmentary retinopathy	51601	LIPT1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4719	NDUFS1	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4695	NDUFA2	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4697	NDUFA4	ORPHA:255241
HP:0000580	Pigmentary retinopathy	4704	NDUFA9	ORPHA:255241
HP:0000580	Pigmentary retinopathy	22880	MORC2	OMIM:619090
HP:0000580	Pigmentary retinopathy	2937	GSS	OMIM:266130
HP:0000580	Pigmentary retinopathy	326	AIRE	OMIM:240300
HP:0000580	Pigmentary retinopathy	6390	SDHB	ORPHA:3208
HP:0000580	Pigmentary retinopathy	6392	SDHD	ORPHA:3208
HP:0000580	Pigmentary retinopathy	644096	SDHAF1	ORPHA:3208
HP:0000580	Pigmentary retinopathy	25974	MMACHC	ORPHA:79282
HP:0000580	Pigmentary retinopathy	25974	MMACHC	OMIM:277400
HP:0000580	Pigmentary retinopathy	9187	SLC24A1	OMIM:613830
HP:0000580	Pigmentary retinopathy	23503	ZFYVE26	ORPHA:100996
HP:0000580	Pigmentary retinopathy	7439	BEST1	OMIM:193220
HP:0000580	Pigmentary retinopathy	5052	PRDX1	OMIM:277400
HP:0000580	Pigmentary retinopathy	7399	USH2A	OMIM:613809
HP:0000580	Pigmentary retinopathy	7287	TULP1	OMIM:600132
HP:0000580	Pigmentary retinopathy	7401	CLRN1	OMIM:614180
HP:0000580	Pigmentary retinopathy	26121	PRPF31	OMIM:600138
HP:0000580	Pigmentary retinopathy	10594	PRPF8	OMIM:600059
HP:0000580	Pigmentary retinopathy	25794	FSCN2	OMIM:607921
HP:0000580	Pigmentary retinopathy	1121	CHM	OMIM:303100
HP:0000580	Pigmentary retinopathy	4117	MAK	OMIM:614181
HP:0000580	Pigmentary retinopathy	5949	RBP3	OMIM:615233
HP:0000580	Pigmentary retinopathy	9785	DHX38	OMIM:618220
HP:0000580	Pigmentary retinopathy	54903	MKS1	OMIM:615990
HP:0000580	Pigmentary retinopathy	22901	ARSG	OMIM:618144
HP:0000580	Pigmentary retinopathy	23418	CRB1	OMIM:172870
HP:0000580	Pigmentary retinopathy	23418	CRB1	OMIM:600105
HP:0000580	Pigmentary retinopathy	157657	CFAP418	OMIM:614500
HP:0000580	Pigmentary retinopathy	94137	RP1L1	OMIM:618826
HP:0000580	Pigmentary retinopathy	54585	LZTFL1	OMIM:615994
HP:0000580	Pigmentary retinopathy	6010	RHO	OMIM:613731
HP:0000580	Pigmentary retinopathy	6010	RHO	OMIM:610445
HP:0000580	Pigmentary retinopathy	6295	SAG	OMIM:620228
HP:0000580	Pigmentary retinopathy	5145	PDE6A	OMIM:613810
HP:0000580	Pigmentary retinopathy	84839	RAX2	OMIM:620102
HP:0000580	Pigmentary retinopathy	130557	ZNF513	OMIM:613617
HP:0000580	Pigmentary retinopathy	49855	SCAPER	OMIM:618195
HP:0000580	Pigmentary retinopathy	6101	RP1	OMIM:180100
HP:0000580	Pigmentary retinopathy	3000	GUCY2D	OMIM:601777
HP:0000580	Pigmentary retinopathy	2916	GRM6	OMIM:257270
HP:0000580	Pigmentary retinopathy	9227	LRAT	ORPHA:364055
HP:0000580	Pigmentary retinopathy	55812	SPATA7	ORPHA:364055
HP:0000580	Pigmentary retinopathy	6121	RPE65	ORPHA:364055
HP:0000580	Pigmentary retinopathy	6121	RPE65	OMIM:618697
HP:0000580	Pigmentary retinopathy	167691	LCA5	ORPHA:364055
HP:0000580	Pigmentary retinopathy	9742	IFT140	OMIM:617781
HP:0000580	Pigmentary retinopathy	6017	RLBP1	ORPHA:85128
HP:0000580	Pigmentary retinopathy	6017	RLBP1	OMIM:607476
HP:0000580	Pigmentary retinopathy	3098	HK1	OMIM:617460
HP:0000580	Pigmentary retinopathy	50939	IMPG2	OMIM:613581
HP:0000580	Pigmentary retinopathy	8842	PROM1	OMIM:612095
HP:0000580	Pigmentary retinopathy	83552	MFRP	OMIM:611040
HP:0000580	Pigmentary retinopathy	5148	PDE6G	OMIM:613582
HP:0000580	Pigmentary retinopathy	60509	AGBL5	OMIM:617023
HP:0000580	Pigmentary retinopathy	755	CFAP410	OMIM:617547
HP:0000580	Pigmentary retinopathy	123016	TTC8	OMIM:613464
HP:0000580	Pigmentary retinopathy	24148	PRPF6	OMIM:613983
HP:0000580	Pigmentary retinopathy	92840	REEP6	OMIM:617304
HP:0000580	Pigmentary retinopathy	3419	IDH3A	OMIM:619007
HP:0000580	Pigmentary retinopathy	57709	SLC7A14	OMIM:615725
HP:0000580	Pigmentary retinopathy	768206	PRCD	OMIM:610599
HP:0000580	Pigmentary retinopathy	388939	PCARE	OMIM:613428
HP:0000580	Pigmentary retinopathy	84140	FAM161A	OMIM:606068
HP:0000580	Pigmentary retinopathy	23020	SNRNP200	OMIM:610359
HP:0000580	Pigmentary retinopathy	346007	EYS	OMIM:602772
HP:0000580	Pigmentary retinopathy	28982	FLVCR1	ORPHA:88628
HP:0000580	Pigmentary retinopathy	28982	FLVCR1	OMIM:609033
HP:0000580	Pigmentary retinopathy	50484	RRM2B	OMIM:268315
HP:0000580	Pigmentary retinopathy	112752	IFT43	OMIM:617871
HP:0000580	Pigmentary retinopathy	64218	SEMA4A	OMIM:610283
HP:0000580	Pigmentary retinopathy	79797	ZNF408	OMIM:616469
HP:0000580	Pigmentary retinopathy	282809	POC1B	OMIM:615973
HP:0000580	Pigmentary retinopathy	4901	NRL	OMIM:613750
HP:0000580	Pigmentary retinopathy	138050	HGSNAT	OMIM:616544
HP:0000580	Pigmentary retinopathy	1259	CNGA1	OMIM:613756
HP:0000580	Pigmentary retinopathy	51109	RDH11	OMIM:616108
HP:0000580	Pigmentary retinopathy	84100	ARL6	OMIM:209900
HP:0000580	Pigmentary retinopathy	79140	CCDC28B	OMIM:209900
HP:0000580	Pigmentary retinopathy	582	BBS1	OMIM:209900
HP:0000580	Pigmentary retinopathy	26504	CNNM4	OMIM:217080
HP:0000580	Pigmentary retinopathy	23761	PISD	OMIM:618889
HP:0000580	Pigmentary retinopathy	6100	RP9	OMIM:180104
HP:0000580	Pigmentary retinopathy	64802	NMNAT1	OMIM:608553
HP:0000580	Pigmentary retinopathy	1406	CRX	OMIM:120970
HP:0000580	Pigmentary retinopathy	3614	IMPDH1	OMIM:180105
HP:0000580	Pigmentary retinopathy	157680	VPS13B	OMIM:216550
HP:0000580	Pigmentary retinopathy	403	ARL3	OMIM:618173
HP:0000580	Pigmentary retinopathy	23155	CLCC1	OMIM:609913
HP:0000580	Pigmentary retinopathy	6103	RPGR	OMIM:300029
HP:0000580	Pigmentary retinopathy	24	ABCA4	OMIM:601718
HP:0000580	Pigmentary retinopathy	55624	POMGNT1	OMIM:617123
HP:0000580	Pigmentary retinopathy	27241	BBS9	OMIM:615986
HP:0000580	Pigmentary retinopathy	1258	CNGB1	OMIM:613767
HP:0000580	Pigmentary retinopathy	57670	KIAA1549	OMIM:618613
HP:0000580	Pigmentary retinopathy	5158	PDE6B	OMIM:613801
HP:0000580	Pigmentary retinopathy	145226	RDH12	OMIM:612712
HP:0008011	Peripheral opacification of the cornea	11081	KERA	OMIM:217300
HP:0008011	Peripheral opacification of the cornea	55315	SLC29A3	OMIM:602782
HP:0008011	Peripheral opacification of the cornea	55315	SLC29A3	ORPHA:168569
HP:0008011	Peripheral opacification of the cornea	3931	LCAT	OMIM:245900
HP:0008011	Peripheral opacification of the cornea	255738	PCSK9	OMIM:603776
HP:0008011	Peripheral opacification of the cornea	335	APOA1	OMIM:618463
HP:0008011	Peripheral opacification of the cornea	338	APOB	OMIM:144010
HP:0008011	Peripheral opacification of the cornea	336	APOA2	OMIM:143890
HP:0008011	Peripheral opacification of the cornea	2053	EPHX2	OMIM:143890
HP:0008011	Peripheral opacification of the cornea	10842	PPP1R17	OMIM:143890
HP:0008011	Peripheral opacification of the cornea	2690	GHR	OMIM:143890
HP:0008011	Peripheral opacification of the cornea	3949	LDLR	OMIM:143890
HP:0008011	Peripheral opacification of the cornea	3990	LIPC	OMIM:614025
HP:0008011	Peripheral opacification of the cornea	91851	CHRDL1	OMIM:309300
HP:0008011	Peripheral opacification of the cornea	5832	ALDH18A1	OMIM:219150
HP:0008011	Peripheral opacification of the cornea	348	APOE	ORPHA:412
HP:0008011	Peripheral opacification of the cornea	64241	ABCG8	OMIM:210250
HP:0008011	Peripheral opacification of the cornea	4313	MMP2	OMIM:259600
HP:0000545	Myopia	875	CBS	ORPHA:394
HP:0000545	Myopia	875	CBS	OMIM:236200
HP:0000545	Myopia	2218	FKTN	ORPHA:272
HP:0000545	Myopia	2218	FKTN	ORPHA:588
HP:0000545	Myopia	2218	FKTN	OMIM:236670
HP:0000545	Myopia	2218	FKTN	OMIM:253800
HP:0000545	Myopia	8036	SHOC2	OMIM:607721
HP:0000545	Myopia	51256	TBC1D7	OMIM:248000
HP:0000545	Myopia	8518	ELP1	ORPHA:1764
HP:0000545	Myopia	1024	CDK8	OMIM:618748
HP:0000545	Myopia	60684	TRAPPC11	OMIM:615356
HP:0000545	Myopia	60684	TRAPPC11	ORPHA:369847
HP:0000545	Myopia	7299	TYR	OMIM:203100
HP:0000545	Myopia	51	ACOX1	ORPHA:2971
HP:0000545	Myopia	84570	COL25A1	ORPHA:91411
HP:0000545	Myopia	79776	ZFHX4	ORPHA:91411
HP:0000545	Myopia	55209	SETD5	ORPHA:404440
HP:0000545	Myopia	55209	SETD5	OMIM:615761
HP:0000545	Myopia	3190	HNRNPK	ORPHA:453504
HP:0000545	Myopia	3190	HNRNPK	ORPHA:352665
HP:0000545	Myopia	79848	CSPP1	ORPHA:397715
HP:0000545	Myopia	9786	KIAA0586	ORPHA:397715
HP:0000545	Myopia	4125	MAN2B1	ORPHA:309282
HP:0000545	Myopia	4125	MAN2B1	ORPHA:309288
HP:0000545	Myopia	57165	GJC2	OMIM:608804
HP:0000545	Myopia	116931	MED12L	OMIM:618872
HP:0000545	Myopia	10730	YME1L1	OMIM:617302
HP:0000545	Myopia	55690	PACS1	OMIM:615009
HP:0000545	Myopia	2201	FBN2	OMIM:121050
HP:0000545	Myopia	5728	PTEN	ORPHA:2969
HP:0000545	Myopia	5728	PTEN	ORPHA:201
HP:0000545	Myopia	5728	PTEN	ORPHA:744
HP:0000545	Myopia	5728	PTEN	OMIM:158350
HP:0000545	Myopia	10686	CLDN16	OMIM:248250
HP:0000545	Myopia	57539	WDR35	ORPHA:1515
HP:0000545	Myopia	112752	IFT43	ORPHA:1515
HP:0000545	Myopia	51098	IFT52	ORPHA:1515
HP:0000545	Myopia	55764	IFT122	ORPHA:1515
HP:0000545	Myopia	55764	IFT122	OMIM:218330
HP:0000545	Myopia	57728	WDR19	ORPHA:1515
HP:0000545	Myopia	57728	WDR19	OMIM:614376
HP:0000545	Myopia	6660	SOX5	ORPHA:313892
HP:0000545	Myopia	6660	SOX5	OMIM:616803
HP:0000545	Myopia	10133	OPTN	OMIM:137760
HP:0000545	Myopia	84572	GNPTG	OMIM:252605
HP:0000545	Myopia	6023	RMRP	ORPHA:175
HP:0000545	Myopia	7345	UCHL1	OMIM:615491
HP:0000545	Myopia	818	CAMK2G	OMIM:618522
HP:0000545	Myopia	113189	CHST14	ORPHA:2953
HP:0000545	Myopia	113189	CHST14	OMIM:601776
HP:0000545	Myopia	29940	DSE	ORPHA:2953
HP:0000545	Myopia	7021	TFAP2B	ORPHA:46627
HP:0000545	Myopia	3064	HTT	OMIM:617435
HP:0000545	Myopia	84100	ARL6	OMIM:209900
HP:0000545	Myopia	79140	CCDC28B	OMIM:209900
HP:0000545	Myopia	582	BBS1	OMIM:209900
HP:0000545	Myopia	2697	GJA1	ORPHA:2710
HP:0000545	Myopia	2697	GJA1	OMIM:257850
HP:0000545	Myopia	157680	VPS13B	OMIM:216550
HP:0000545	Myopia	157680	VPS13B	ORPHA:193
HP:0000545	Myopia	7020	TFAP2A	OMIM:113620
HP:0000545	Myopia	652	BMP4	OMIM:607932
HP:0000545	Myopia	652	BMP4	ORPHA:139471
HP:0000545	Myopia	8726	EED	OMIM:617561
HP:0000545	Myopia	5528	PPP2R5D	OMIM:616355
HP:0000545	Myopia	23327	NEDD4L	OMIM:617201
HP:0000545	Myopia	5813	PURA	ORPHA:438216
HP:0000545	Myopia	64132	XYLT2	ORPHA:85194
HP:0000545	Myopia	89910	UBE3B	ORPHA:2707
HP:0000545	Myopia	89910	UBE3B	OMIM:244450
HP:0000545	Myopia	1499	CTNNB1	ORPHA:404473
HP:0000545	Myopia	3981	LIG4	ORPHA:235
HP:0000545	Myopia	54888	NSUN2	ORPHA:235
HP:0000545	Myopia	1969	EPHA2	OMIM:116600
HP:0000545	Myopia	3845	KRAS	OMIM:615278
HP:0000545	Myopia	3845	KRAS	ORPHA:1340
HP:0000545	Myopia	6638	SNRPN	OMIM:105830
HP:0000545	Myopia	6638	SNRPN	ORPHA:177907
HP:0000545	Myopia	7337	UBE3A	OMIM:105830
HP:0000545	Myopia	148789	B3GALNT2	ORPHA:588
HP:0000545	Myopia	148789	B3GALNT2	OMIM:615181
HP:0000545	Myopia	29925	GMPPB	ORPHA:588
HP:0000545	Myopia	29925	GMPPB	ORPHA:370968
HP:0000545	Myopia	29925	GMPPB	ORPHA:370959
HP:0000545	Myopia	79147	FKRP	ORPHA:588
HP:0000545	Myopia	79147	FKRP	OMIM:236670
HP:0000545	Myopia	79147	FKRP	ORPHA:370968
HP:0000545	Myopia	79147	FKRP	ORPHA:370959
HP:0000545	Myopia	79147	FKRP	OMIM:613153
HP:0000545	Myopia	9215	LARGE1	ORPHA:588
HP:0000545	Myopia	9215	LARGE1	OMIM:236670
HP:0000545	Myopia	9215	LARGE1	ORPHA:370968
HP:0000545	Myopia	29954	POMT2	ORPHA:588
HP:0000545	Myopia	29954	POMT2	OMIM:236670
HP:0000545	Myopia	29954	POMT2	ORPHA:370968
HP:0000545	Myopia	29954	POMT2	ORPHA:370959
HP:0000545	Myopia	29954	POMT2	OMIM:613150
HP:0000545	Myopia	29954	POMT2	OMIM:613156
HP:0000545	Myopia	10585	POMT1	ORPHA:588
HP:0000545	Myopia	10585	POMT1	OMIM:236670
HP:0000545	Myopia	10585	POMT1	ORPHA:370968
HP:0000545	Myopia	10585	POMT1	ORPHA:370959
HP:0000545	Myopia	10585	POMT1	OMIM:613155
HP:0000545	Myopia	1859	DYRK1A	ORPHA:464311
HP:0000545	Myopia	1859	DYRK1A	ORPHA:268261
HP:0000545	Myopia	55210	ATAD3A	ORPHA:496790
HP:0000545	Myopia	55210	ATAD3A	OMIM:617183
HP:0000545	Myopia	5605	MAP2K2	OMIM:615280
HP:0000545	Myopia	5605	MAP2K2	ORPHA:1340
HP:0000545	Myopia	6101	RP1	OMIM:180100
HP:0000545	Myopia	4644	MYO5A	ORPHA:33445
HP:0000545	Myopia	9533	POLR1C	OMIM:616494
HP:0000545	Myopia	8733	GPAA1	ORPHA:529665
HP:0000545	Myopia	8733	GPAA1	OMIM:617810
HP:0000545	Myopia	6942	TCF20	OMIM:618430
HP:0000545	Myopia	9772	TMEM94	OMIM:618316
HP:0000545	Myopia	6925	TCF4	OMIM:610954
HP:0000545	Myopia	6925	TCF4	ORPHA:2896
HP:0000545	Myopia	4308	TRPM1	ORPHA:215
HP:0000545	Myopia	4308	TRPM1	OMIM:613216
HP:0000545	Myopia	57010	CABP4	ORPHA:215
HP:0000545	Myopia	93589	CACNA2D4	ORPHA:215
HP:0000545	Myopia	2916	GRM6	ORPHA:215
HP:0000545	Myopia	2916	GRM6	OMIM:257270
HP:0000545	Myopia	5158	PDE6B	ORPHA:215
HP:0000545	Myopia	6011	GRK1	ORPHA:215
HP:0000545	Myopia	6011	GRK1	ORPHA:75382
HP:0000545	Myopia	778	CACNA1F	ORPHA:215
HP:0000545	Myopia	778	CACNA1F	ORPHA:178333
HP:0000545	Myopia	778	CACNA1F	OMIM:300600
HP:0000545	Myopia	778	CACNA1F	OMIM:300476
HP:0000545	Myopia	6010	RHO	ORPHA:215
HP:0000545	Myopia	9187	SLC24A1	ORPHA:215
HP:0000545	Myopia	6295	SAG	ORPHA:215
HP:0000545	Myopia	6295	SAG	ORPHA:75382
HP:0000545	Myopia	2779	GNAT1	ORPHA:215
HP:0000545	Myopia	57688	ZSWIM6	OMIM:603671
HP:0000545	Myopia	57688	ZSWIM6	ORPHA:1827
HP:0000545	Myopia	124583	CANT1	OMIM:251450
HP:0000545	Myopia	4488	MSX2	OMIM:604757
HP:0000545	Myopia	5373	PMM2	ORPHA:79318
HP:0000545	Myopia	7030	TFE3	OMIM:301066
HP:0000545	Myopia	57479	PRR12	OMIM:619539
HP:0000545	Myopia	7994	KAT6A	OMIM:616268
HP:0000545	Myopia	25836	NIPBL	OMIM:122470
HP:0000545	Myopia	25836	NIPBL	ORPHA:199
HP:0000545	Myopia	9725	TMEM63A	OMIM:618688
HP:0000545	Myopia	404672	GTF2H5	ORPHA:33364
HP:0000545	Myopia	833	CARS1	ORPHA:33364
HP:0000545	Myopia	2068	ERCC2	ORPHA:33364
HP:0000545	Myopia	7737	RNF113A	ORPHA:33364
HP:0000545	Myopia	136647	MPLKIP	ORPHA:33364
HP:0000545	Myopia	6897	TARS1	ORPHA:33364
HP:0000545	Myopia	2071	ERCC3	ORPHA:33364
HP:0000545	Myopia	2961	GTF2E2	ORPHA:33364
HP:0000545	Myopia	3339	HSPG2	OMIM:255800
HP:0000545	Myopia	3339	HSPG2	ORPHA:800
HP:0000545	Myopia	4883	NPR3	OMIM:619543
HP:0000545	Myopia	2263	FGFR2	OMIM:101200
HP:0000545	Myopia	3479	IGF1	ORPHA:73272
HP:0000545	Myopia	22827	PUF60	ORPHA:508498
HP:0000545	Myopia	5351	PLOD1	OMIM:225400
HP:0000545	Myopia	5351	PLOD1	ORPHA:1900
HP:0000545	Myopia	30000	TNPO2	OMIM:619556
HP:0000545	Myopia	10765	KDM5B	OMIM:618109
HP:0000545	Myopia	7681	MKRN3	OMIM:176270
HP:0000545	Myopia	3653	IPW	OMIM:176270
HP:0000545	Myopia	54551	MAGEL2	OMIM:176270
HP:0000545	Myopia	54551	MAGEL2	ORPHA:398069
HP:0000545	Myopia	54551	MAGEL2	OMIM:615547
HP:0000545	Myopia	791114	PWRN1	OMIM:176270
HP:0000545	Myopia	100033413	SNORD116-1	OMIM:176270
HP:0000545	Myopia	8924	HERC2	OMIM:176270
HP:0000545	Myopia	145624	PWAR1	OMIM:176270
HP:0000545	Myopia	23742	NPAP1	OMIM:176270
HP:0000545	Myopia	338433	SNORD115-1	OMIM:176270
HP:0000545	Myopia	27125	AFF4	ORPHA:444077
HP:0000545	Myopia	55869	HDAC8	OMIM:300882
HP:0000545	Myopia	55869	HDAC8	ORPHA:199
HP:0000545	Myopia	10397	NDRG1	OMIM:601455
HP:0000545	Myopia	9227	LRAT	ORPHA:364055
HP:0000545	Myopia	55812	SPATA7	ORPHA:364055
HP:0000545	Myopia	6121	RPE65	ORPHA:364055
HP:0000545	Myopia	167691	LCA5	ORPHA:364055
HP:0000545	Myopia	29998	BICRA	OMIM:619325
HP:0000545	Myopia	60509	AGBL5	OMIM:617023
HP:0000545	Myopia	55215	FANCI	OMIM:609053
HP:0000545	Myopia	9126	SMC3	OMIM:610759
HP:0000545	Myopia	9126	SMC3	ORPHA:199
HP:0000545	Myopia	4942	OAT	ORPHA:414
HP:0000545	Myopia	4942	OAT	OMIM:258870
HP:0000545	Myopia	473	RERE	ORPHA:494344
HP:0000545	Myopia	55777	MBD5	OMIM:156200
HP:0000545	Myopia	56915	EXOSC5	OMIM:619576
HP:0000545	Myopia	9131	AIFM1	OMIM:300614
HP:0000545	Myopia	7275	TUB	OMIM:616188
HP:0000545	Myopia	3756	KCNH1	OMIM:135500
HP:0000545	Myopia	23389	MED13L	ORPHA:369891
HP:0000545	Myopia	55750	AGK	OMIM:212350
HP:0000545	Myopia	55750	AGK	ORPHA:1369
HP:0000545	Myopia	10483	SEC23B	ORPHA:201
HP:0000545	Myopia	6390	SDHB	ORPHA:201
HP:0000545	Myopia	6392	SDHD	ORPHA:201
HP:0000545	Myopia	6391	SDHC	ORPHA:201
HP:0000545	Myopia	207	AKT1	ORPHA:201
HP:0000545	Myopia	207	AKT1	ORPHA:744
HP:0000545	Myopia	207	AKT1	OMIM:615109
HP:0000545	Myopia	205717	USF3	ORPHA:201
HP:0000545	Myopia	5290	PIK3CA	ORPHA:201
HP:0000545	Myopia	5290	PIK3CA	OMIM:615108
HP:0000545	Myopia	100144748	KLLN	ORPHA:201
HP:0000545	Myopia	9509	ADAMTS2	OMIM:225410
HP:0000545	Myopia	372	ARCN1	OMIM:617164
HP:0000545	Myopia	54681	P4HTM	OMIM:618493
HP:0000545	Myopia	4015	LOX	OMIM:617168
HP:0000545	Myopia	26040	SETBP1	OMIM:616078
HP:0000545	Myopia	92949	ADAMTSL1	ORPHA:521445
HP:0000545	Myopia	134218	DNAJC21	OMIM:617052
HP:0000545	Myopia	10847	SRCAP	OMIM:619595
HP:0000545	Myopia	51604	PIGT	ORPHA:369837
HP:0000545	Myopia	145173	B3GLCT	OMIM:261540
HP:0000545	Myopia	1285	COL4A3	OMIM:203780
HP:0000545	Myopia	1285	COL4A3	OMIM:104200
HP:0000545	Myopia	1286	COL4A4	OMIM:203780
HP:0000545	Myopia	526	ATP6V1B2	ORPHA:79500
HP:0000545	Myopia	1412	CRYBA2	OMIM:115900
HP:0000545	Myopia	283446	MYO1H	OMIM:619482
HP:0000545	Myopia	84197	POMK	ORPHA:370959
HP:0000545	Myopia	22978	NT5C2	ORPHA:320396
HP:0000545	Myopia	22978	NT5C2	OMIM:613162
HP:0000545	Myopia	6872	TAF1	OMIM:300966
HP:0000545	Myopia	8567	MADD	OMIM:619004
HP:0000545	Myopia	4841	NONO	OMIM:300967
HP:0000545	Myopia	4841	NONO	ORPHA:466791
HP:0000545	Myopia	8239	USP9X	OMIM:300968
HP:0000545	Myopia	8239	USP9X	ORPHA:480880
HP:0000545	Myopia	8318	CDC45	OMIM:617063
HP:0000545	Myopia	1289	COL5A1	OMIM:130000
HP:0000545	Myopia	29123	ANKRD11	ORPHA:261250
HP:0000545	Myopia	50485	SMARCAL1	OMIM:242900
HP:0000545	Myopia	6663	SOX10	OMIM:609136
HP:0000545	Myopia	126792	B3GALT6	OMIM:271640
HP:0000545	Myopia	126792	B3GALT6	ORPHA:536467
HP:0000545	Myopia	149461	CLDN19	ORPHA:2196
HP:0000545	Myopia	149461	CLDN19	OMIM:248190
HP:0000545	Myopia	2733	GLE1	OMIM:611890
HP:0000545	Myopia	51594	NBAS	OMIM:614800
HP:0000545	Myopia	4948	OCA2	OMIM:203200
HP:0000545	Myopia	4157	MC1R	OMIM:203200
HP:0000545	Myopia	64131	XYLT1	ORPHA:370930
HP:0000545	Myopia	11011	TLK2	OMIM:618050
HP:0000545	Myopia	3030	HADHA	ORPHA:5
HP:0000545	Myopia	129285	PPP1R21	OMIM:619383
HP:0000545	Myopia	84168	ANTXR1	ORPHA:2067
HP:0000545	Myopia	7287	TULP1	OMIM:613843
HP:0000545	Myopia	5167	ENPP1	ORPHA:758
HP:0000545	Myopia	368	ABCC6	ORPHA:758
HP:0000545	Myopia	368	ABCC6	OMIM:177850
HP:0000545	Myopia	1462	VCAN	OMIM:143200
HP:0000545	Myopia	23241	PACS2	OMIM:618067
HP:0000545	Myopia	5631	PRPS1	ORPHA:411543
HP:0000545	Myopia	5631	PRPS1	OMIM:300661
HP:0000545	Myopia	673	BRAF	OMIM:115150
HP:0000545	Myopia	673	BRAF	ORPHA:1340
HP:0000545	Myopia	673	BRAF	OMIM:163950
HP:0000545	Myopia	7003	TEAD1	OMIM:108985
HP:0000545	Myopia	118987	PDZD8	OMIM:620021
HP:0000545	Myopia	64324	NSD1	ORPHA:821
HP:0000545	Myopia	64324	NSD1	ORPHA:228415
HP:0000545	Myopia	29072	SETD2	ORPHA:821
HP:0000545	Myopia	10297	APC2	ORPHA:821
HP:0000545	Myopia	80232	WDR26	ORPHA:513456
HP:0000545	Myopia	162	AP1B1	OMIM:242150
HP:0000545	Myopia	1278	COL1A2	ORPHA:230851
HP:0000545	Myopia	224	ALDH3A2	ORPHA:816
HP:0000545	Myopia	2314	FLII	ORPHA:819
HP:0000545	Myopia	23096	IQSEC2	ORPHA:819
HP:0000545	Myopia	10743	RAI1	ORPHA:819
HP:0000545	Myopia	10522	DEAF1	ORPHA:819
HP:0000545	Myopia	169522	KCNV2	OMIM:610356
HP:0000545	Myopia	6662	SOX9	OMIM:114290
HP:0000545	Myopia	7102	TSPAN7	OMIM:300210
HP:0000545	Myopia	51360	MBTPS2	ORPHA:2273
HP:0000545	Myopia	57492	ARID1B	OMIM:135900
HP:0000545	Myopia	57492	ARID1B	ORPHA:1465
HP:0000545	Myopia	5119	CHMP1A	OMIM:614961
HP:0000545	Myopia	546	ATRX	ORPHA:847
HP:0000545	Myopia	1678	TIMM8A	OMIM:304700
HP:0000545	Myopia	57531	HACE1	ORPHA:464282
HP:0000545	Myopia	57531	HACE1	OMIM:616756
HP:0000545	Myopia	9839	ZEB2	ORPHA:261552
HP:0000545	Myopia	9839	ZEB2	ORPHA:261537
HP:0000545	Myopia	64919	BCL11B	OMIM:618092
HP:0000545	Myopia	6999	TDO2	OMIM:600627
HP:0000545	Myopia	4853	NOTCH2	ORPHA:955
HP:0000545	Myopia	165	AEBP1	ORPHA:536532
HP:0000545	Myopia	2743	GLRB	OMIM:614619
HP:0000545	Myopia	2615	LRRC32	OMIM:619074
HP:0000545	Myopia	7025	NR2F1	ORPHA:401777
HP:0000545	Myopia	5956	OPN1LW	OMIM:303700
HP:0000545	Myopia	2652	OPN1MW	OMIM:303700
HP:0000545	Myopia	8419	BFSP2	OMIM:611597
HP:0000545	Myopia	6804	STX1A	ORPHA:904
HP:0000545	Myopia	7461	CLIP2	ORPHA:904
HP:0000545	Myopia	84277	DNAJC30	ORPHA:904
HP:0000545	Myopia	8468	FKBP6	ORPHA:904
HP:0000545	Myopia	5982	RFC2	ORPHA:904
HP:0000545	Myopia	2969	GTF2I	ORPHA:904
HP:0000545	Myopia	3984	LIMK1	ORPHA:904
HP:0000545	Myopia	9569	GTF2IRD1	ORPHA:904
HP:0000545	Myopia	155382	VPS37D	ORPHA:904
HP:0000545	Myopia	155368	METTL27	ORPHA:904
HP:0000545	Myopia	114049	BUD23	ORPHA:904
HP:0000545	Myopia	7458	EIF4H	ORPHA:904
HP:0000545	Myopia	84163	GTF2IRD2	ORPHA:904
HP:0000545	Myopia	9275	BCL7B	ORPHA:904
HP:0000545	Myopia	26608	TBL2	ORPHA:904
HP:0000545	Myopia	653361	NCF1	ORPHA:904
HP:0000545	Myopia	135886	TMEM270	ORPHA:904
HP:0000545	Myopia	51085	MLXIPL	ORPHA:904
HP:0000545	Myopia	9031	BAZ1B	ORPHA:904
HP:0000545	Myopia	2006	ELN	ORPHA:904
HP:0000545	Myopia	1282	COL4A1	OMIM:175780
HP:0000545	Myopia	81031	SLC2A10	ORPHA:3342
HP:0000545	Myopia	81031	SLC2A10	OMIM:208050
HP:0000545	Myopia	11128	POLR3A	ORPHA:447896
HP:0000545	Myopia	11128	POLR3A	ORPHA:3455
HP:0000545	Myopia	11128	POLR3A	OMIM:607694
HP:0000545	Myopia	1303	COL12A1	ORPHA:536516
HP:0000545	Myopia	284217	LAMA1	OMIM:615960
HP:0000545	Myopia	284217	LAMA1	ORPHA:370022
HP:0000545	Myopia	23261	CAMTA1	OMIM:614756
HP:0000545	Myopia	182	JAG1	OMIM:118450
HP:0000545	Myopia	5832	ALDH18A1	OMIM:219150
HP:0000545	Myopia	23065	EMC1	ORPHA:480898
HP:0000545	Myopia	23065	EMC1	OMIM:616875
HP:0000545	Myopia	51322	WAC	ORPHA:284169
HP:0000545	Myopia	51322	WAC	OMIM:616708
HP:0000545	Myopia	5295	PIK3R1	OMIM:269880
HP:0000545	Myopia	22926	ATF6	ORPHA:49382
HP:0000545	Myopia	5146	PDE6C	ORPHA:49382
HP:0000545	Myopia	2780	GNAT2	ORPHA:49382
HP:0000545	Myopia	1261	CNGA3	ORPHA:49382
HP:0000545	Myopia	8573	CASK	ORPHA:163937
HP:0000545	Myopia	8242	KDM5C	OMIM:300534
HP:0000545	Myopia	117581	TWIST2	ORPHA:920
HP:0000545	Myopia	8943	AP3D1	ORPHA:54
HP:0000545	Myopia	4935	GPR143	ORPHA:54
HP:0000545	Myopia	79228	THOC6	OMIM:613680
HP:0000545	Myopia	2703	GJA8	ORPHA:1377
HP:0000545	Myopia	1413	CRYBA4	ORPHA:1377
HP:0000545	Myopia	1409	CRYAA	ORPHA:1377
HP:0000545	Myopia	1415	CRYBB2	ORPHA:1377
HP:0000545	Myopia	1414	CRYBB1	ORPHA:1377
HP:0000545	Myopia	1420	CRYGC	ORPHA:1377
HP:0000545	Myopia	1421	CRYGD	ORPHA:1377
HP:0000545	Myopia	9990	SLC12A6	ORPHA:1496
HP:0000545	Myopia	7407	VARS1	OMIM:617802
HP:0000545	Myopia	6497	SKI	ORPHA:2462
HP:0000545	Myopia	6497	SKI	OMIM:182212
HP:0000545	Myopia	51095	TRNT1	OMIM:616959
HP:0000545	Myopia	1288	COL4A6	ORPHA:1018
HP:0000545	Myopia	1287	COL4A5	ORPHA:1018
HP:0000545	Myopia	1287	COL4A5	OMIM:301050
HP:0000545	Myopia	10075	HUWE1	OMIM:309590
HP:0000545	Myopia	2335	FN1	ORPHA:93315
HP:0000545	Myopia	291	SLC25A4	ORPHA:1369
HP:0000545	Myopia	26007	TKFC	ORPHA:1369
HP:0000545	Myopia	23291	FBXW11	OMIM:618914
HP:0000545	Myopia	4893	NRAS	OMIM:613224
HP:0000545	Myopia	55033	FKBP14	OMIM:614557
HP:0000545	Myopia	55033	FKBP14	ORPHA:300179
HP:0000545	Myopia	64135	IFIH1	OMIM:182250
HP:0000545	Myopia	6597	SMARCA4	ORPHA:1465
HP:0000545	Myopia	6598	SMARCB1	ORPHA:1465
HP:0000545	Myopia	6659	SOX4	ORPHA:1465
HP:0000545	Myopia	8289	ARID1A	ORPHA:1465
HP:0000545	Myopia	5977	DPF2	ORPHA:1465
HP:0000545	Myopia	6601	SMARCC2	ORPHA:1465
HP:0000545	Myopia	6602	SMARCD1	ORPHA:1465
HP:0000545	Myopia	196528	ARID2	ORPHA:1465
HP:0000545	Myopia	6605	SMARCE1	ORPHA:1465
HP:0000545	Myopia	6664	SOX11	ORPHA:1465
HP:0000545	Myopia	54974	THG1L	OMIM:618800
HP:0000545	Myopia	5604	MAP2K1	ORPHA:1340
HP:0000545	Myopia	5604	MAP2K1	OMIM:163950
HP:0000545	Myopia	5718	PSMD12	ORPHA:529962
HP:0000545	Myopia	2186	BPTF	ORPHA:529962
HP:0000545	Myopia	8985	PLOD3	OMIM:612394
HP:0000545	Myopia	23476	BRD4	ORPHA:199
HP:0000545	Myopia	8243	SMC1A	ORPHA:199
HP:0000545	Myopia	5885	RAD21	ORPHA:199
HP:0000545	Myopia	7399	USH2A	ORPHA:231178
HP:0000545	Myopia	79955	PDZD7	ORPHA:231178
HP:0000545	Myopia	4647	MYO7A	ORPHA:231178
HP:0000545	Myopia	25861	WHRN	ORPHA:231178
HP:0000545	Myopia	84059	ADGRV1	ORPHA:231178
HP:0000545	Myopia	7874	USP7	ORPHA:500055
HP:0000545	Myopia	23630	KCNE5	ORPHA:86818
HP:0000545	Myopia	2182	ACSL4	ORPHA:86818
HP:0000545	Myopia	9949	AMMECR1	ORPHA:86818
HP:0000545	Myopia	1121	CHM	ORPHA:180
HP:0000545	Myopia	1806	DPYD	ORPHA:1675
HP:0000545	Myopia	1806	DPYD	ORPHA:293948
HP:0000545	Myopia	3832	KIF11	ORPHA:2526
HP:0000545	Myopia	3832	KIF11	OMIM:152950
HP:0000545	Myopia	54676	GTPBP2	OMIM:617988
HP:0000545	Myopia	113246	C12orf57	OMIM:218340
HP:0000545	Myopia	8241	RBM10	ORPHA:2886
HP:0000545	Myopia	54802	TRIT1	OMIM:617873
HP:0000545	Myopia	6651	SON	ORPHA:500150
HP:0000545	Myopia	387	RHOA	OMIM:618727
HP:0000545	Myopia	170692	ADAMTS18	OMIM:615458
HP:0000545	Myopia	1968	EIF2S3	OMIM:300148
HP:0000545	Myopia	157657	CFAP418	OMIM:617406
HP:0000545	Myopia	5781	PTPN11	OMIM:163950
HP:0000545	Myopia	1280	COL2A1	OMIM:271700
HP:0000545	Myopia	1280	COL2A1	ORPHA:485
HP:0000545	Myopia	84189	SLITRK6	OMIM:221200
HP:0000545	Myopia	55703	POLR3B	OMIM:614381
HP:0000545	Myopia	6134	RPL10	OMIM:300998
HP:0000545	Myopia	2200	FBN1	ORPHA:284979
HP:0000545	Myopia	2200	FBN1	OMIM:616914
HP:0000545	Myopia	2200	FBN1	OMIM:608328
HP:0000545	Myopia	2200	FBN1	ORPHA:3449
HP:0000545	Myopia	1299	COL9A3	OMIM:620022
HP:0000545	Myopia	1605	DAG1	ORPHA:370997
HP:0000545	Myopia	1605	DAG1	OMIM:616538
HP:0000545	Myopia	7045	TGFBI	ORPHA:98964
HP:0000545	Myopia	256471	MFSD8	OMIM:616170
HP:0000545	Myopia	57465	TBC1D24	OMIM:220500
HP:0000545	Myopia	54714	CNGB3	OMIM:262300
HP:0000545	Myopia	55610	VPS50	OMIM:619685
HP:0000545	Myopia	54453	RIN2	ORPHA:217335
HP:0000545	Myopia	54453	RIN2	OMIM:613075
HP:0000545	Myopia	64412	GZF1	OMIM:617662
HP:0000545	Myopia	123016	TTC8	OMIM:613464
HP:0000545	Myopia	79631	EFL1	OMIM:617941
HP:0000545	Myopia	90161	HS6ST2	OMIM:301025
HP:0000545	Myopia	4784	NFIX	OMIM:602535
HP:0000545	Myopia	8925	HERC1	ORPHA:457359
HP:0000545	Myopia	170691	ADAMTS17	OMIM:613195
HP:0000545	Myopia	1298	COL9A2	OMIM:614284
HP:0000545	Myopia	9364	RAB28	OMIM:615374
HP:0000545	Myopia	10265	IRX5	OMIM:611174
HP:0000545	Myopia	79797	ZNF408	OMIM:616469
HP:0000545	Myopia	440435	GPR179	OMIM:614565
HP:0000545	Myopia	84146	ZNF644	OMIM:614167
HP:0000545	Myopia	23545	ATP6V0A2	ORPHA:2834
HP:0000545	Myopia	23545	ATP6V0A2	ORPHA:357074
HP:0000545	Myopia	6102	RP2	OMIM:312600
HP:0000545	Myopia	3913	LAMB2	OMIM:609049
HP:0000545	Myopia	7276	TTR	OMIM:105210
HP:0000545	Myopia	444	ASPH	OMIM:601552
HP:0000545	Myopia	9401	RECQL4	OMIM:218600
HP:0000545	Myopia	171023	ASXL1	ORPHA:97297
HP:0000545	Myopia	10524	KAT5	OMIM:619103
HP:0000545	Myopia	55214	P3H2	OMIM:614292
HP:0000545	Myopia	9997	SCO2	OMIM:608908
HP:0000545	Myopia	201973	PRIMPOL	OMIM:615420
HP:0000545	Myopia	1410	CRYAB	OMIM:613763
HP:0000545	Myopia	6785	ELOVL4	OMIM:614457
HP:0000545	Myopia	9419	CRIPT	OMIM:615789
HP:0000545	Myopia	283375	SLC39A5	OMIM:615946
HP:0000545	Myopia	81794	ADAMTS10	OMIM:277600
HP:0000545	Myopia	81794	ADAMTS10	ORPHA:3449
HP:0000545	Myopia	6611	SMS	ORPHA:3063
HP:0000545	Myopia	6611	SMS	OMIM:309583
HP:0000545	Myopia	2261	FGFR3	OMIM:616482
HP:0000545	Myopia	54507	ADAMTSL4	OMIM:225200
HP:0000545	Myopia	1349	COX7B	OMIM:309801
HP:0000545	Myopia	3052	HCCS	OMIM:309801
HP:0000545	Myopia	54539	NDUFB11	OMIM:309801
HP:0000545	Myopia	10526	IPO8	OMIM:619472
HP:0000545	Myopia	4043	LRPAP1	OMIM:615431
HP:0000545	Myopia	92002	CCNQ	OMIM:300707
HP:0000545	Myopia	29894	CPSF1	OMIM:618827
HP:0000545	Myopia	5149	PDE6H	OMIM:610024
HP:0000545	Myopia	83475	DOHH	OMIM:620066
HP:0000545	Myopia	80781	COL18A1	OMIM:267750
HP:0000545	Myopia	4036	LRP2	OMIM:222448
HP:0000545	Myopia	51611	DPH5	OMIM:620070
HP:0000545	Myopia	407	ARR3	OMIM:301010
HP:0000545	Myopia	8314	BAP1	OMIM:619762
HP:0000545	Myopia	388552	BLOC1S3	OMIM:614077
HP:0000545	Myopia	2683	B4GALT1	ORPHA:79332
HP:0000545	Myopia	2065	ERBB3	OMIM:607598
HP:0000545	Myopia	11107	PRDM5	ORPHA:90354
HP:0000545	Myopia	84627	ZNF469	ORPHA:90354
HP:0000545	Myopia	1301	COL11A1	ORPHA:440354
HP:0000545	Myopia	523	ATP6V1A	ORPHA:357074
HP:0000545	Myopia	529	ATP6V1E1	ORPHA:357074
HP:0000545	Myopia	282809	POC1B	OMIM:615973
HP:0000545	Myopia	4053	LTBP2	ORPHA:3449
HP:0000545	Myopia	4053	LTBP2	OMIM:614819
HP:0000545	Myopia	8974	P4HA2	OMIM:617238
HP:0000545	Myopia	345193	LRIT3	OMIM:615058
HP:0000545	Myopia	55624	POMGNT1	OMIM:613157
HP:0000545	Myopia	4094	MAF	OMIM:610202
HP:0000545	Myopia	60506	NYX	OMIM:310500
HP:0000545	Myopia	5076	PAX2	OMIM:120330
HP:0000545	Myopia	285440	CYP4V2	OMIM:210370
HP:0000545	Myopia	64802	NMNAT1	OMIM:619260
HP:0000545	Myopia	2742	GLRA2	OMIM:301076
HP:0000545	Myopia	6103	RPGR	OMIM:300029
HP:0000545	Myopia	23404	EXOSC2	OMIM:617763
HP:0000545	Myopia	23093	TTLL5	OMIM:615860
HP:0000545	Myopia	84695	LOXL3	OMIM:619781
HP:0000545	Myopia	1297	COL9A1	OMIM:614134
HP:0000545	Myopia	5062	PAK2	OMIM:618458
HP:0000545	Myopia	2202	EFEMP1	ORPHA:98977
HP:0000545	Myopia	1545	CYP1B1	ORPHA:98977
HP:0000545	Myopia	4653	MYOC	ORPHA:98977
HP:0000545	Myopia	4693	NDP	OMIM:305390
HP:0000545	Myopia	27245	AHDC1	ORPHA:412069
HP:0000545	Myopia	8481	OFD1	OMIM:300424
HP:0000545	Myopia	8367	H4C5	OMIM:619950
HP:0000545	Myopia	1302	COL11A2	ORPHA:1427
HP:0000545	Myopia	23126	POGZ	OMIM:616364
HP:0000545	Myopia	2784	GNB3	OMIM:617024
HP:0000545	Myopia	2316	FLNA	ORPHA:555877
HP:0000545	Myopia	8364	H4C3	OMIM:619758
HP:0001493	Falciform retinal fold	23554	TSPAN12	OMIM:613310
HP:0001493	Falciform retinal fold	23554	TSPAN12	ORPHA:891
HP:0001493	Falciform retinal fold	8322	FZD4	OMIM:133780
HP:0001493	Falciform retinal fold	8322	FZD4	ORPHA:891
HP:0001493	Falciform retinal fold	4041	LRP5	OMIM:133780
HP:0001493	Falciform retinal fold	4041	LRP5	ORPHA:891
HP:0001493	Falciform retinal fold	4041	LRP5	OMIM:601813
HP:0001493	Falciform retinal fold	79797	ZNF408	OMIM:616468
HP:0001493	Falciform retinal fold	79797	ZNF408	ORPHA:891
HP:0001493	Falciform retinal fold	4693	NDP	ORPHA:891
HP:0001493	Falciform retinal fold	4693	NDP	OMIM:305390
HP:0001493	Falciform retinal fold	1499	CTNNB1	ORPHA:891
HP:0007768	Central retinal vessel vascular tortuosity	84277	DNAJC30	OMIM:619382
HP:0007768	Central retinal vessel vascular tortuosity	85465	SELENOI	ORPHA:506353
HP:0007768	Central retinal vessel vascular tortuosity	4514	MT-CO3	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4519	MT-CYB	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4541	MT-ND6	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4540	MT-ND5	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4508	MT-ATP6	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4539	MT-ND4L	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4535	MT-ND1	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4536	MT-ND2	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4538	MT-ND4	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4750	NEK1	ORPHA:2751
HP:0001083	Ectopia lentis	64840	PORCN	OMIM:305600
HP:0001083	Ectopia lentis	64840	PORCN	ORPHA:2092
HP:0001083	Ectopia lentis	54507	ADAMTSL4	OMIM:225200
HP:0001083	Ectopia lentis	54507	ADAMTSL4	ORPHA:1885
HP:0001083	Ectopia lentis	54507	ADAMTSL4	OMIM:225100
HP:0001083	Ectopia lentis	6890	TAP1	OMIM:604571
HP:0001083	Ectopia lentis	6891	TAP2	OMIM:604571
HP:0001083	Ectopia lentis	6892	TAPBP	OMIM:604571
HP:0001083	Ectopia lentis	1289	COL5A1	OMIM:130000
HP:0001083	Ectopia lentis	2201	FBN2	OMIM:121050
HP:0001083	Ectopia lentis	2201	FBN2	ORPHA:115
HP:0001083	Ectopia lentis	126792	B3GALT6	OMIM:271640
HP:0001083	Ectopia lentis	170691	ADAMTS17	OMIM:613195
HP:0001083	Ectopia lentis	54880	BCOR	ORPHA:2712
HP:0001083	Ectopia lentis	4053	LTBP2	ORPHA:3449
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:613086
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:614819
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:251750
HP:0001083	Ectopia lentis	81794	ADAMTS10	ORPHA:3449
HP:0001083	Ectopia lentis	81794	ADAMTS10	OMIM:277600
HP:0001083	Ectopia lentis	4088	SMAD3	OMIM:613795
HP:0001083	Ectopia lentis	7048	TGFBR2	OMIM:610168
HP:0001083	Ectopia lentis	27151	CPAMD8	OMIM:617319
HP:0001083	Ectopia lentis	10157	AASS	OMIM:238700
HP:0001083	Ectopia lentis	4693	NDP	ORPHA:649
HP:0001083	Ectopia lentis	3339	HSPG2	ORPHA:800
HP:0001083	Ectopia lentis	6821	SUOX	OMIM:272300
HP:0001083	Ectopia lentis	7046	TGFBR1	OMIM:609192
HP:0001083	Ectopia lentis	5062	PAK2	ORPHA:1571
HP:0001083	Ectopia lentis	7042	TGFB2	OMIM:614816
HP:0001083	Ectopia lentis	7490	WT1	OMIM:106210
HP:0001083	Ectopia lentis	5080	PAX6	OMIM:106210
HP:0001083	Ectopia lentis	80781	COL18A1	OMIM:267750
HP:0001083	Ectopia lentis	444	ASPH	OMIM:601552
HP:0001083	Ectopia lentis	4016	LOXL1	OMIM:177650
HP:0001083	Ectopia lentis	26610	ELP4	OMIM:617141
HP:0001083	Ectopia lentis	55214	P3H2	OMIM:614292
HP:0001083	Ectopia lentis	5130	PCYT1A	ORPHA:85167
HP:0001083	Ectopia lentis	91851	CHRDL1	OMIM:309300
HP:0001083	Ectopia lentis	875	CBS	OMIM:236200
HP:0001083	Ectopia lentis	6297	SALL2	OMIM:216820
HP:0001083	Ectopia lentis	1280	COL2A1	ORPHA:93296
HP:0001083	Ectopia lentis	8314	BAP1	ORPHA:39044
HP:0001083	Ectopia lentis	57105	CYSLTR2	ORPHA:39044
HP:0001083	Ectopia lentis	2776	GNAQ	ORPHA:39044
HP:0001083	Ectopia lentis	2767	GNA11	ORPHA:39044
HP:0001083	Ectopia lentis	23451	SF3B1	ORPHA:39044
HP:0001083	Ectopia lentis	4337	MOCS1	OMIM:252150
HP:0001083	Ectopia lentis	1301	COL11A1	OMIM:154780
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:608328
HP:0001083	Ectopia lentis	4338	MOCS2	OMIM:252160
HP:0001083	Ectopia lentis	113246	C12orf57	OMIM:218340
HP:0001083	Ectopia lentis	5076	PAX2	OMIM:120330
HP:0007722	Retinal pigment epithelial atrophy	7439	BEST1	OMIM:611809
HP:0007722	Retinal pigment epithelial atrophy	10210	TOPORS	OMIM:609923
HP:0007722	Retinal pigment epithelial atrophy	7840	ALMS1	ORPHA:64
HP:0007722	Retinal pigment epithelial atrophy	22926	ATF6	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	5146	PDE6C	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	6103	RPGR	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	6103	RPGR	OMIM:304020
HP:0007722	Retinal pigment epithelial atrophy	5149	PDE6H	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	2780	GNAT2	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	1261	CNGA3	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	54714	CNGB3	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	54714	CNGB3	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	83723	TLCD3B	OMIM:619531
HP:0007722	Retinal pigment epithelial atrophy	112752	IFT43	OMIM:617871
HP:0007722	Retinal pigment epithelial atrophy	7275	TUB	OMIM:616188
HP:0007722	Retinal pigment epithelial atrophy	285440	CYP4V2	ORPHA:41751
HP:0007722	Retinal pigment epithelial atrophy	8842	PROM1	OMIM:608051
HP:0007722	Retinal pigment epithelial atrophy	8842	PROM1	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	5961	PRPH2	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	6785	ELOVL4	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	24	ABCA4	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	24	ABCA4	OMIM:601718
HP:0007722	Retinal pigment epithelial atrophy	6247	RS1	OMIM:312700
HP:0007722	Retinal pigment epithelial atrophy	1406	CRX	OMIM:120970
HP:0007722	Retinal pigment epithelial atrophy	224	ALDH3A2	OMIM:270200
HP:0007722	Retinal pigment epithelial atrophy	9227	LRAT	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	55812	SPATA7	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	6121	RPE65	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	167691	LCA5	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	8481	OFD1	OMIM:300424
HP:0007722	Retinal pigment epithelial atrophy	6017	RLBP1	ORPHA:85128
HP:0007722	Retinal pigment epithelial atrophy	50939	IMPG2	OMIM:613581
HP:0007722	Retinal pigment epithelial atrophy	83552	MFRP	OMIM:611040
HP:0007722	Retinal pigment epithelial atrophy	92211	CDHR1	OMIM:613660
HP:0007722	Retinal pigment epithelial atrophy	24148	PRPF6	OMIM:613983
HP:0007722	Retinal pigment epithelial atrophy	3419	IDH3A	OMIM:619007
HP:0007722	Retinal pigment epithelial atrophy	7078	TIMP3	ORPHA:59181
HP:0007722	Retinal pigment epithelial atrophy	57670	KIAA1549	OMIM:618613
HP:0007722	Retinal pigment epithelial atrophy	23020	SNRNP200	OMIM:610359
HP:0007722	Retinal pigment epithelial atrophy	51095	TRNT1	OMIM:616959
HP:0007722	Retinal pigment epithelial atrophy	1462	VCAN	OMIM:143200
HP:0007722	Retinal pigment epithelial atrophy	51109	RDH11	ORPHA:436245
HP:0007722	Retinal pigment epithelial atrophy	79797	ZNF408	OMIM:616468
HP:0007722	Retinal pigment epithelial atrophy	114902	C1QTNF5	ORPHA:67042
HP:0000615	Abnormal pupil morphology	26277	TINF2	OMIM:268130
HP:0000615	Abnormal pupil morphology	5925	RB1	OMIM:180200
HP:0000615	Abnormal pupil morphology	2767	GNA11	ORPHA:1556
HP:0000615	Abnormal pupil morphology	151188	ARL6IP6	ORPHA:1556
HP:0000615	Abnormal pupil morphology	57167	SALL4	ORPHA:233
HP:0000615	Abnormal pupil morphology	9935	MAFB	ORPHA:233
HP:0000615	Abnormal pupil morphology	1123	CHN1	ORPHA:233
HP:0000615	Abnormal pupil morphology	8943	AP3D1	ORPHA:54
HP:0000615	Abnormal pupil morphology	4935	GPR143	ORPHA:54
HP:0000615	Abnormal pupil morphology	1281	COL3A1	ORPHA:286
HP:0000615	Abnormal pupil morphology	5295	PIK3R1	ORPHA:3163
HP:0000615	Abnormal pupil morphology	112802	KRT71	ORPHA:170
HP:0000615	Abnormal pupil morphology	121391	KRT74	ORPHA:170
HP:0000615	Abnormal pupil morphology	200879	LIPH	ORPHA:170
HP:0000615	Abnormal pupil morphology	10161	LPAR6	ORPHA:170
HP:0000615	Abnormal pupil morphology	147183	KRT25	ORPHA:170
HP:0000615	Abnormal pupil morphology	8929	PHOX2B	ORPHA:2151
HP:0000615	Abnormal pupil morphology	8518	ELP1	ORPHA:1764
HP:0000615	Abnormal pupil morphology	5728	PTEN	ORPHA:2969
HP:0000615	Abnormal pupil morphology	4952	OCRL	ORPHA:534
HP:0000615	Abnormal pupil morphology	6786	STIM1	OMIM:160565
HP:0000615	Abnormal pupil morphology	4359	MPZ	ORPHA:101082
HP:0000615	Abnormal pupil morphology	284252	KCTD1	OMIM:181270
HP:0000615	Abnormal pupil morphology	4016	LOXL1	OMIM:177650
HP:0000615	Abnormal pupil morphology	1656	DDX6	OMIM:618653
HP:0000615	Abnormal pupil morphology	91147	TMEM67	OMIM:613550
HP:0000615	Abnormal pupil morphology	29926	GMPPA	OMIM:615510
HP:0000615	Abnormal pupil morphology	5376	PMP22	ORPHA:90658
HP:0000615	Abnormal pupil morphology	79628	SH3TC2	ORPHA:99949
HP:0000615	Abnormal pupil morphology	25942	SIN3A	OMIM:613406
HP:0000615	Abnormal pupil morphology	8086	AAAS	OMIM:231550
HP:0000615	Abnormal pupil morphology	3265	HRAS	ORPHA:79414
HP:0000615	Abnormal pupil morphology	80781	COL18A1	OMIM:267750
HP:0000615	Abnormal pupil morphology	220202	ATOH7	OMIM:221900
HP:0000615	Abnormal pupil morphology	220202	ATOH7	ORPHA:91495
HP:0000615	Abnormal pupil morphology	27151	CPAMD8	OMIM:617319
HP:0000615	Abnormal pupil morphology	54507	ADAMTSL4	OMIM:225200
HP:0000615	Abnormal pupil morphology	29954	POMT2	OMIM:613150
HP:0000615	Abnormal pupil morphology	4693	NDP	ORPHA:91495
HP:0000615	Abnormal pupil morphology	8322	FZD4	ORPHA:91495
HP:0000615	Abnormal pupil morphology	80036	TRPM3	OMIM:620253
HP:0000615	Abnormal pupil morphology	2697	GJA1	OMIM:257850
HP:0000615	Abnormal pupil morphology	2296	FOXC1	OMIM:601631
HP:0000615	Abnormal pupil morphology	2296	FOXC1	OMIM:602482
HP:0000615	Abnormal pupil morphology	9839	ZEB2	ORPHA:261552
HP:0000615	Abnormal pupil morphology	9839	ZEB2	OMIM:235730
HP:0000615	Abnormal pupil morphology	6909	TBX2	OMIM:618223
HP:0000615	Abnormal pupil morphology	5130	PCYT1A	ORPHA:85167
HP:0000615	Abnormal pupil morphology	79977	GRHL2	OMIM:618031
HP:0000615	Abnormal pupil morphology	79977	GRHL2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	2200	FBN1	ORPHA:1885
HP:0000615	Abnormal pupil morphology	6935	ZEB1	OMIM:609141
HP:0000615	Abnormal pupil morphology	6935	ZEB1	ORPHA:98973
HP:0000615	Abnormal pupil morphology	58495	OVOL2	OMIM:122000
HP:0000615	Abnormal pupil morphology	58495	OVOL2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	387	RHOA	OMIM:618727
HP:0000615	Abnormal pupil morphology	10586	MAB21L2	OMIM:615877
HP:0000615	Abnormal pupil morphology	1282	COL4A1	OMIM:175780
HP:0000615	Abnormal pupil morphology	53834	FGFRL1	OMIM:194190
HP:0000615	Abnormal pupil morphology	1487	CTBP1	OMIM:194190
HP:0000615	Abnormal pupil morphology	3954	LETM1	OMIM:194190
HP:0000615	Abnormal pupil morphology	7468	NSD2	OMIM:194190
HP:0000615	Abnormal pupil morphology	10815	CPLX1	OMIM:194190
HP:0000615	Abnormal pupil morphology	5308	PITX2	OMIM:180500
HP:0000615	Abnormal pupil morphology	7490	WT1	OMIM:106210
HP:0000615	Abnormal pupil morphology	5080	PAX6	OMIM:106210
HP:0000615	Abnormal pupil morphology	30813	VSX1	ORPHA:98973
HP:0000615	Abnormal pupil morphology	1296	COL8A2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	2670	GFAP	OMIM:203450
HP:0000615	Abnormal pupil morphology	5950	RBP4	OMIM:616428
HP:0000615	Abnormal pupil morphology	3913	LAMB2	OMIM:609049
HP:0000615	Abnormal pupil morphology	4796	TONSL	ORPHA:93357
HP:0031481	Abnormal mitral valve physiology	4088	SMAD3	ORPHA:284984
HP:0031481	Abnormal mitral valve physiology	4088	SMAD3	OMIM:613795
HP:0031481	Abnormal mitral valve physiology	10128	LRPPRC	OMIM:220111
HP:0031481	Abnormal mitral valve physiology	894	CCND2	ORPHA:83473
HP:0031481	Abnormal mitral valve physiology	5296	PIK3R2	ORPHA:83473
HP:0031481	Abnormal mitral valve physiology	5296	PIK3R2	OMIM:603387
HP:0031481	Abnormal mitral valve physiology	10000	AKT3	ORPHA:83473
HP:0031481	Abnormal mitral valve physiology	151648	SGO1	OMIM:616201
HP:0031481	Abnormal mitral valve physiology	6016	RIT1	OMIM:615355
HP:0031481	Abnormal mitral valve physiology	23394	ADNP	OMIM:615873
HP:0031481	Abnormal mitral valve physiology	79912	PYROXD1	OMIM:617258
HP:0031481	Abnormal mitral valve physiology	1788	DNMT3A	OMIM:615879
HP:0031481	Abnormal mitral valve physiology	1788	DNMT3A	ORPHA:404443
HP:0031481	Abnormal mitral valve physiology	4091	SMAD6	OMIM:614823
HP:0031481	Abnormal mitral valve physiology	2316	FLNA	OMIM:314400
HP:0031481	Abnormal mitral valve physiology	2316	FLNA	ORPHA:88630
HP:0031481	Abnormal mitral valve physiology	2316	FLNA	ORPHA:555877
HP:0031481	Abnormal mitral valve physiology	5428	POLG	OMIM:258450
HP:0031481	Abnormal mitral valve physiology	5428	POLG	OMIM:607459
HP:0031481	Abnormal mitral valve physiology	5894	RAF1	OMIM:615916
HP:0031481	Abnormal mitral valve physiology	4125	MAN2B1	ORPHA:309282
HP:0031481	Abnormal mitral valve physiology	1837	DTNA	OMIM:604169
HP:0031481	Abnormal mitral valve physiology	1278	COL1A2	ORPHA:230851
HP:0031481	Abnormal mitral valve physiology	1278	COL1A2	OMIM:225320
HP:0031481	Abnormal mitral valve physiology	6392	SDHD	OMIM:619167
HP:0031481	Abnormal mitral valve physiology	84665	MYPN	OMIM:615248
HP:0031481	Abnormal mitral valve physiology	84665	MYPN	ORPHA:75249
HP:0031481	Abnormal mitral valve physiology	10516	FBLN5	OMIM:614434
HP:0031481	Abnormal mitral valve physiology	10516	FBLN5	ORPHA:90348
HP:0031481	Abnormal mitral valve physiology	2201	FBN2	OMIM:121050
HP:0031481	Abnormal mitral valve physiology	10216	PRG4	ORPHA:2848
HP:0031481	Abnormal mitral valve physiology	55033	FKBP14	OMIM:614557
HP:0031481	Abnormal mitral valve physiology	79158	GNPTAB	OMIM:252500
HP:0031481	Abnormal mitral valve physiology	79158	GNPTAB	ORPHA:576
HP:0031481	Abnormal mitral valve physiology	3949	LDLR	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	255738	PCSK9	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	26119	LDLRAP1	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	338	APOB	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	64240	ABCG5	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	64241	ABCG8	ORPHA:391665
HP:0031481	Abnormal mitral valve physiology	6660	SOX5	ORPHA:313892
HP:0031481	Abnormal mitral valve physiology	6197	RPS6KA3	OMIM:303600
HP:0031481	Abnormal mitral valve physiology	2626	GATA4	OMIM:607941
HP:0031481	Abnormal mitral valve physiology	2626	GATA4	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	65082	VPS33A	ORPHA:505248
HP:0031481	Abnormal mitral valve physiology	3074	HEXB	ORPHA:309155
HP:0031481	Abnormal mitral valve physiology	56915	EXOSC5	OMIM:619576
HP:0031481	Abnormal mitral valve physiology	8642	DCHS1	OMIM:607829
HP:0031481	Abnormal mitral valve physiology	63976	PRDM16	OMIM:615373
HP:0031481	Abnormal mitral valve physiology	10265	IRX5	OMIM:611174
HP:0031481	Abnormal mitral valve physiology	92579	G6PC3	OMIM:612541
HP:0031481	Abnormal mitral valve physiology	29940	DSE	OMIM:615539
HP:0031481	Abnormal mitral valve physiology	83550	GPR101	ORPHA:963
HP:0031481	Abnormal mitral valve physiology	9049	AIP	ORPHA:963
HP:0031481	Abnormal mitral valve physiology	2717	GLA	ORPHA:324
HP:0031481	Abnormal mitral valve physiology	54539	NDUFB11	ORPHA:2556
HP:0031481	Abnormal mitral valve physiology	1349	COX7B	ORPHA:2556
HP:0031481	Abnormal mitral valve physiology	3052	HCCS	ORPHA:2556
HP:0031481	Abnormal mitral valve physiology	1277	COL1A1	ORPHA:287
HP:0031481	Abnormal mitral valve physiology	1289	COL5A1	ORPHA:287
HP:0031481	Abnormal mitral valve physiology	1290	COL5A2	ORPHA:287
HP:0031481	Abnormal mitral valve physiology	4763	NF1	ORPHA:363700
HP:0031481	Abnormal mitral valve physiology	1193	CLIC2	ORPHA:324410
HP:0031481	Abnormal mitral valve physiology	79576	NKAP	OMIM:301039
HP:0031481	Abnormal mitral valve physiology	2318	FLNC	OMIM:617047
HP:0031481	Abnormal mitral valve physiology	2318	FLNC	ORPHA:75249
HP:0031481	Abnormal mitral valve physiology	4015	LOX	OMIM:617168
HP:0031481	Abnormal mitral valve physiology	6885	MAP3K7	OMIM:157800
HP:0031481	Abnormal mitral valve physiology	6885	MAP3K7	ORPHA:3238
HP:0031481	Abnormal mitral valve physiology	2720	GLB1	OMIM:253010
HP:0031481	Abnormal mitral valve physiology	175	AGA	OMIM:208400
HP:0031481	Abnormal mitral valve physiology	3425	IDUA	OMIM:607014
HP:0031481	Abnormal mitral valve physiology	3425	IDUA	OMIM:607015
HP:0031481	Abnormal mitral valve physiology	9531	BAG3	OMIM:612954
HP:0031481	Abnormal mitral valve physiology	4089	SMAD4	OMIM:175050
HP:0031481	Abnormal mitral valve physiology	7092	TLL1	ORPHA:99106
HP:0031481	Abnormal mitral valve physiology	7092	TLL1	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	81794	ADAMTS10	OMIM:277600
HP:0031481	Abnormal mitral valve physiology	81794	ADAMTS10	ORPHA:3449
HP:0031481	Abnormal mitral valve physiology	57057	TBX20	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	4624	MYH6	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	70	ACTC1	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	10370	CITED2	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	2627	GATA6	ORPHA:99103
HP:0031481	Abnormal mitral valve physiology	10664	CTCF	ORPHA:363611
HP:0031481	Abnormal mitral valve physiology	3572	IL6ST	OMIM:619750
HP:0031481	Abnormal mitral valve physiology	6125	RPL5	OMIM:612561
HP:0031481	Abnormal mitral valve physiology	5828	PEX2	OMIM:614866
HP:0031481	Abnormal mitral valve physiology	6804	STX1A	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	7461	CLIP2	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	84277	DNAJC30	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	8468	FKBP6	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	5982	RFC2	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	2969	GTF2I	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	3984	LIMK1	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	9569	GTF2IRD1	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	155382	VPS37D	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	155368	METTL27	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	114049	BUD23	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	7458	EIF4H	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	84163	GTF2IRD2	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	9275	BCL7B	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	26608	TBL2	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	653361	NCF1	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	135886	TMEM270	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	51085	MLXIPL	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	51085	MLXIPL	OMIM:194050
HP:0031481	Abnormal mitral valve physiology	9031	BAZ1B	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	2006	ELN	ORPHA:904
HP:0031481	Abnormal mitral valve physiology	2006	ELN	OMIM:123700
HP:0031481	Abnormal mitral valve physiology	2006	ELN	OMIM:194050
HP:0031481	Abnormal mitral valve physiology	2006	ELN	ORPHA:90348
HP:0031481	Abnormal mitral valve physiology	79770	TXNDC15	OMIM:619879
HP:0031481	Abnormal mitral valve physiology	10290	SPEG	OMIM:615959
HP:0031481	Abnormal mitral valve physiology	3032	HADHB	ORPHA:746
HP:0031481	Abnormal mitral valve physiology	3030	HADHA	ORPHA:746
HP:0031481	Abnormal mitral valve physiology	7139	TNNT2	ORPHA:75249
HP:0031481	Abnormal mitral valve physiology	7137	TNNI3	ORPHA:75249
HP:0031481	Abnormal mitral valve physiology	10112	KIF20A	ORPHA:75249
HP:0031481	Abnormal mitral valve physiology	7168	TPM1	OMIM:611878
HP:0031481	Abnormal mitral valve physiology	83475	DOHH	OMIM:620066
HP:0031481	Abnormal mitral valve physiology	51284	TLR7	OMIM:301080
HP:0031481	Abnormal mitral valve physiology	25915	NDUFAF3	ORPHA:70474
HP:0031481	Abnormal mitral valve physiology	4714	NDUFB8	ORPHA:70474
HP:0031481	Abnormal mitral valve physiology	4720	NDUFS2	ORPHA:70474
HP:0031481	Abnormal mitral valve physiology	9997	SCO2	ORPHA:70474
HP:0031481	Abnormal mitral valve physiology	6834	SURF1	ORPHA:70474
HP:0031481	Abnormal mitral valve physiology	113189	CHST14	OMIM:601776
HP:0031481	Abnormal mitral valve physiology	10651	MTX2	OMIM:619127
HP:0031481	Abnormal mitral valve physiology	5594	MAPK1	OMIM:619087
HP:0031481	Abnormal mitral valve physiology	29123	ANKRD11	ORPHA:261250
HP:0031481	Abnormal mitral valve physiology	5500	PPP1CB	OMIM:617506
HP:0031481	Abnormal mitral valve physiology	4625	MYH7	OMIM:613426
HP:0031481	Abnormal mitral valve physiology	54800	KLHL24	OMIM:620236
HP:0031481	Abnormal mitral valve physiology	2799	GNS	OMIM:252940
HP:0031481	Abnormal mitral valve physiology	2273	FHL1	OMIM:300280
HP:0031481	Abnormal mitral valve physiology	126792	B3GALT6	OMIM:271640
HP:0031481	Abnormal mitral valve physiology	6123	RPL3L	OMIM:619371
HP:0031481	Abnormal mitral valve physiology	442721	LMOD2	OMIM:619897
HP:0031481	Abnormal mitral valve physiology	89970	RSPRY1	ORPHA:457395
HP:0031481	Abnormal mitral valve physiology	4053	LTBP2	ORPHA:3449
HP:0031481	Abnormal mitral valve physiology	5832	ALDH18A1	ORPHA:90348
HP:0031481	Abnormal mitral valve physiology	5832	ALDH18A1	ORPHA:447753
HP:0031481	Abnormal mitral valve physiology	8815	BANF1	OMIM:614008
HP:0031481	Abnormal mitral valve physiology	22873	DZIP1	OMIM:610840
HP:0031481	Abnormal mitral valve physiology	55901	THSD1	OMIM:620244
HP:0031481	Abnormal mitral valve physiology	84188	FAR1	ORPHA:447753
HP:0031481	Abnormal mitral valve physiology	57538	ALPK3	OMIM:618052
HP:0031481	Abnormal mitral valve physiology	56652	TWNK	OMIM:607459
HP:0031481	Abnormal mitral valve physiology	1410	CRYAB	OMIM:615184
HP:0031481	Abnormal mitral valve physiology	4633	MYL2	OMIM:619424
HP:0031481	Abnormal mitral valve physiology	5310	PKD1	OMIM:173900
HP:0031481	Abnormal mitral valve physiology	7043	TGFB3	OMIM:615582
HP:0031481	Abnormal mitral valve physiology	341208	HEPHL1	OMIM:261990
HP:0031481	Abnormal mitral valve physiology	867	CBL	OMIM:613563
HP:0031481	Abnormal mitral valve physiology	23590	PDSS1	OMIM:614651
HP:0031481	Abnormal mitral valve physiology	6497	SKI	ORPHA:2462
HP:0031481	Abnormal mitral valve physiology	4054	LTBP3	OMIM:617809
HP:0031481	Abnormal mitral valve physiology	149233	IL23R	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	6775	STAT4	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	3586	IL10	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	4210	MEFV	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	1230	CCR1	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	355	FAS	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	3592	IL12A	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	3106	HLA-B	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	7099	TLR4	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	3459	IFNGR1	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	720	C4A	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	337867	UBAC2	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	51752	ERAP1	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	8302	KLRC4	ORPHA:117
HP:0031481	Abnormal mitral valve physiology	6584	SLC22A5	OMIM:212140
HP:0031481	Abnormal mitral valve physiology	5337	PLD1	OMIM:212093
HP:0031481	Abnormal mitral valve physiology	7547	ZIC3	OMIM:306955
HP:0031481	Abnormal mitral valve physiology	4000	LMNA	ORPHA:740
HP:0031481	Abnormal mitral valve physiology	10269	ZMPSTE24	ORPHA:740
HP:0031481	Abnormal mitral valve physiology	7707	ZNF148	OMIM:617260
HP:0031481	Abnormal mitral valve physiology	23498	HAAO	OMIM:617660
HP:0031481	Abnormal mitral valve physiology	64131	XYLT1	OMIM:264800
HP:0031481	Abnormal mitral valve physiology	64132	XYLT2	OMIM:264800
HP:0031481	Abnormal mitral valve physiology	368	ABCC6	OMIM:264800
HP:0031481	Abnormal mitral valve physiology	8216	LZTR1	OMIM:616564
HP:0031481	Abnormal mitral valve physiology	8216	LZTR1	OMIM:605275
HP:0031481	Abnormal mitral valve physiology	127833	SYT2	OMIM:619461
HP:0031481	Abnormal mitral valve physiology	2200	FBN1	OMIM:614185
HP:0031481	Abnormal mitral valve physiology	9469	CHST3	OMIM:143095
HP:0031481	Abnormal mitral valve physiology	2697	GJA1	ORPHA:2248
HP:0031481	Abnormal mitral valve physiology	1482	NKX2-5	ORPHA:2248
HP:0031481	Abnormal mitral valve physiology	55784	MCTP2	ORPHA:1596
HP:0031481	Abnormal mitral valve physiology	2629	GBA1	OMIM:231005
HP:0031481	Abnormal mitral valve physiology	7319	UBE2A	ORPHA:163956
HP:0031481	Abnormal mitral valve physiology	4853	NOTCH2	ORPHA:955
HP:0031481	Abnormal mitral valve physiology	9719	ADAMTSL2	OMIM:231050
HP:0031481	Abnormal mitral valve physiology	4851	NOTCH1	OMIM:109730
HP:0031481	Abnormal mitral valve physiology	411	ARSB	OMIM:253200
HP:0031481	Abnormal mitral valve physiology	80206	FHOD3	OMIM:619402
HP:0011070	Abnormal molar morphology	1896	EDA	OMIM:305100
HP:0011070	Abnormal molar morphology	1896	EDA	ORPHA:99798
HP:0011070	Abnormal molar morphology	64388	GREM2	OMIM:617275
HP:0011070	Abnormal molar morphology	10117	ENAM	OMIM:204650
HP:0011070	Abnormal molar morphology	2972	BRF1	OMIM:616202
HP:0011070	Abnormal molar morphology	2972	BRF1	ORPHA:444072
HP:0011070	Abnormal molar morphology	2591	GALNT3	OMIM:211900
HP:0011070	Abnormal molar morphology	1107	CHD3	OMIM:618205
HP:0011070	Abnormal molar morphology	4040	LRP6	OMIM:616724
HP:0011070	Abnormal molar morphology	4040	LRP6	ORPHA:99798
HP:0011070	Abnormal molar morphology	2248	FGF3	ORPHA:2791
HP:0011070	Abnormal molar morphology	5189	PEX1	ORPHA:3220
HP:0011070	Abnormal molar morphology	5190	PEX6	ORPHA:3220
HP:0011070	Abnormal molar morphology	8626	TP63	OMIM:129400
HP:0011070	Abnormal molar morphology	8626	TP63	ORPHA:1896
HP:0011070	Abnormal molar morphology	4750	NEK1	ORPHA:2751
HP:0011070	Abnormal molar morphology	2260	FGFR1	ORPHA:99798
HP:0011070	Abnormal molar morphology	4487	MSX1	ORPHA:99798
HP:0011070	Abnormal molar morphology	128178	EDARADD	ORPHA:99798
HP:0011070	Abnormal molar morphology	5083	PAX9	ORPHA:99798
HP:0011070	Abnormal molar morphology	7341	SUMO1	ORPHA:99798
HP:0011070	Abnormal molar morphology	80326	WNT10A	ORPHA:99798
HP:0011070	Abnormal molar morphology	8313	AXIN2	ORPHA:99798
HP:0011070	Abnormal molar morphology	3664	IRF6	ORPHA:99798
HP:0011070	Abnormal molar morphology	7039	TGFA	ORPHA:99798
HP:0011070	Abnormal molar morphology	7480	WNT10B	ORPHA:99798
HP:0011070	Abnormal molar morphology	2697	GJA1	ORPHA:2710
HP:0011070	Abnormal molar morphology	2697	GJA1	OMIM:164200
HP:0011070	Abnormal molar morphology	64094	SMOC2	OMIM:125400
HP:0011070	Abnormal molar morphology	1747	DLX3	OMIM:190320
HP:0011070	Abnormal molar morphology	1747	DLX3	ORPHA:3352
HP:0011070	Abnormal molar morphology	1747	DLX3	OMIM:104510
HP:0011070	Abnormal molar morphology	57728	WDR19	OMIM:614378
HP:0011070	Abnormal molar morphology	57728	WDR19	ORPHA:1515
HP:0011070	Abnormal molar morphology	80169	CTC1	ORPHA:1775
HP:0011070	Abnormal molar morphology	26277	TINF2	ORPHA:1775
HP:0011070	Abnormal molar morphology	55651	NHP2	ORPHA:1775
HP:0011070	Abnormal molar morphology	79650	USB1	ORPHA:1775
HP:0011070	Abnormal molar morphology	55135	WRAP53	ORPHA:1775
HP:0011070	Abnormal molar morphology	51750	RTEL1	ORPHA:1775
HP:0011070	Abnormal molar morphology	4869	NPM1	ORPHA:1775
HP:0011070	Abnormal molar morphology	7012	TERC	ORPHA:1775
HP:0011070	Abnormal molar morphology	55505	NOP10	ORPHA:1775
HP:0011070	Abnormal molar morphology	5073	PARN	ORPHA:1775
HP:0011070	Abnormal molar morphology	7015	TERT	ORPHA:1775
HP:0011070	Abnormal molar morphology	1736	DKC1	ORPHA:1775
HP:0011070	Abnormal molar morphology	7298	TYMS	ORPHA:1775
HP:0011070	Abnormal molar morphology	2314	FLII	ORPHA:819
HP:0011070	Abnormal molar morphology	23096	IQSEC2	ORPHA:819
HP:0011070	Abnormal molar morphology	10743	RAI1	ORPHA:819
HP:0011070	Abnormal molar morphology	10522	DEAF1	ORPHA:819
HP:0011070	Abnormal molar morphology	3914	LAMB3	OMIM:104530
HP:0011070	Abnormal molar morphology	57539	WDR35	ORPHA:1515
HP:0011070	Abnormal molar morphology	112752	IFT43	ORPHA:1515
HP:0011070	Abnormal molar morphology	51098	IFT52	ORPHA:1515
HP:0011070	Abnormal molar morphology	55764	IFT122	ORPHA:1515
HP:0011070	Abnormal molar morphology	4952	OCRL	ORPHA:534
HP:0011070	Abnormal molar morphology	50485	SMARCAL1	ORPHA:1830
HP:0011070	Abnormal molar morphology	4810	NHS	OMIM:302350
HP:0011071	Abnormality of permanent molar morphology	1896	EDA	OMIM:305100
HP:0011071	Abnormality of permanent molar morphology	1896	EDA	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	64388	GREM2	OMIM:617275
HP:0011071	Abnormality of permanent molar morphology	10117	ENAM	OMIM:204650
HP:0011071	Abnormality of permanent molar morphology	2972	BRF1	OMIM:616202
HP:0011071	Abnormality of permanent molar morphology	2972	BRF1	ORPHA:444072
HP:0011071	Abnormality of permanent molar morphology	2591	GALNT3	OMIM:211900
HP:0011071	Abnormality of permanent molar morphology	1107	CHD3	OMIM:618205
HP:0011071	Abnormality of permanent molar morphology	4040	LRP6	OMIM:616724
HP:0011071	Abnormality of permanent molar morphology	4040	LRP6	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	2248	FGF3	ORPHA:2791
HP:0011071	Abnormality of permanent molar morphology	5189	PEX1	ORPHA:3220
HP:0011071	Abnormality of permanent molar morphology	5190	PEX6	ORPHA:3220
HP:0011071	Abnormality of permanent molar morphology	8626	TP63	OMIM:129400
HP:0011071	Abnormality of permanent molar morphology	8626	TP63	ORPHA:1896
HP:0011071	Abnormality of permanent molar morphology	4750	NEK1	ORPHA:2751
HP:0011071	Abnormality of permanent molar morphology	2260	FGFR1	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	4487	MSX1	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	128178	EDARADD	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	5083	PAX9	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	7341	SUMO1	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	80326	WNT10A	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	8313	AXIN2	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	3664	IRF6	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	7039	TGFA	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	7480	WNT10B	ORPHA:99798
HP:0011071	Abnormality of permanent molar morphology	2697	GJA1	ORPHA:2710
HP:0011071	Abnormality of permanent molar morphology	2697	GJA1	OMIM:164200
HP:0011071	Abnormality of permanent molar morphology	64094	SMOC2	OMIM:125400
HP:0011071	Abnormality of permanent molar morphology	1747	DLX3	OMIM:190320
HP:0011071	Abnormality of permanent molar morphology	1747	DLX3	ORPHA:3352
HP:0011071	Abnormality of permanent molar morphology	1747	DLX3	OMIM:104510
HP:0011071	Abnormality of permanent molar morphology	57728	WDR19	OMIM:614378
HP:0011071	Abnormality of permanent molar morphology	57728	WDR19	ORPHA:1515
HP:0011071	Abnormality of permanent molar morphology	80169	CTC1	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	26277	TINF2	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	55651	NHP2	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	79650	USB1	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	55135	WRAP53	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	51750	RTEL1	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	4869	NPM1	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	7012	TERC	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	55505	NOP10	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	5073	PARN	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	7015	TERT	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	1736	DKC1	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	7298	TYMS	ORPHA:1775
HP:0011071	Abnormality of permanent molar morphology	2314	FLII	ORPHA:819
HP:0011071	Abnormality of permanent molar morphology	23096	IQSEC2	ORPHA:819
HP:0011071	Abnormality of permanent molar morphology	10743	RAI1	ORPHA:819
HP:0011071	Abnormality of permanent molar morphology	10522	DEAF1	ORPHA:819
HP:0011071	Abnormality of permanent molar morphology	3914	LAMB3	OMIM:104530
HP:0011071	Abnormality of permanent molar morphology	57539	WDR35	ORPHA:1515
HP:0011071	Abnormality of permanent molar morphology	112752	IFT43	ORPHA:1515
HP:0011071	Abnormality of permanent molar morphology	51098	IFT52	ORPHA:1515
HP:0011071	Abnormality of permanent molar morphology	55764	IFT122	ORPHA:1515
HP:0011071	Abnormality of permanent molar morphology	4952	OCRL	ORPHA:534
HP:0011072	Rootless teeth	1009	CDH11	ORPHA:1299
HP:0011073	Abnormality of dental color	2720	GLB1	OMIM:253010
HP:0011073	Abnormality of dental color	2588	GALNS	OMIM:253000
HP:0011073	Abnormality of dental color	3861	KRT14	ORPHA:69087
HP:0011073	Abnormality of dental color	1834	DSPP	OMIM:125490
HP:0011073	Abnormality of dental color	3694	ITGB6	OMIM:616221
HP:0011073	Abnormality of dental color	84957	RELT	OMIM:618386
HP:0011073	Abnormality of dental color	10117	ENAM	OMIM:204650
HP:0011073	Abnormality of dental color	123041	SLC24A4	OMIM:615887
HP:0011073	Abnormality of dental color	6304	SATB1	OMIM:619229
HP:0011073	Abnormality of dental color	9622	KLK4	OMIM:204700
HP:0011073	Abnormality of dental color	1747	DLX3	OMIM:104510
HP:0011073	Abnormality of dental color	9313	MMP20	OMIM:612529
HP:0011073	Abnormality of dental color	258	AMBN	OMIM:616270
HP:0011073	Abnormality of dental color	7840	ALMS1	ORPHA:64
HP:0011073	Abnormality of dental color	7399	USH2A	ORPHA:231178
HP:0011073	Abnormality of dental color	79955	PDZD7	ORPHA:231178
HP:0011073	Abnormality of dental color	4647	MYO7A	ORPHA:231178
HP:0011073	Abnormality of dental color	25861	WHRN	ORPHA:231178
HP:0011073	Abnormality of dental color	84059	ADGRV1	ORPHA:231178
HP:0011073	Abnormality of dental color	26504	CNNM4	ORPHA:1873
HP:0011073	Abnormality of dental color	54757	FAM20A	ORPHA:1031
HP:0011073	Abnormality of dental color	284111	SLC13A5	ORPHA:1946
HP:0011073	Abnormality of dental color	79641	ROGDI	ORPHA:1946
HP:0011073	Abnormality of dental color	3845	KRAS	OMIM:163200
HP:0011073	Abnormality of dental color	4893	NRAS	OMIM:163200
HP:0011073	Abnormality of dental color	3265	HRAS	OMIM:163200
HP:0011073	Abnormality of dental color	1308	COL17A1	ORPHA:251393
HP:0011073	Abnormality of dental color	3691	ITGB4	ORPHA:251393
HP:0011073	Abnormality of dental color	3762	KCNJ5	ORPHA:37553
HP:0011073	Abnormality of dental color	3759	KCNJ2	ORPHA:37553
HP:0011073	Abnormality of dental color	7390	UROS	OMIM:263700
HP:0011073	Abnormality of dental color	7390	UROS	ORPHA:79277
HP:0011073	Abnormality of dental color	2623	GATA1	ORPHA:79277
HP:0011073	Abnormality of dental color	7389	UROD	ORPHA:95159
HP:0011076	Abnormality of premolar	2248	FGF3	ORPHA:2791
HP:0011076	Abnormality of premolar	2260	FGFR1	ORPHA:99798
HP:0011076	Abnormality of premolar	4487	MSX1	ORPHA:99798
HP:0011076	Abnormality of premolar	128178	EDARADD	ORPHA:99798
HP:0011076	Abnormality of premolar	5083	PAX9	ORPHA:99798
HP:0011076	Abnormality of premolar	7341	SUMO1	ORPHA:99798
HP:0011076	Abnormality of premolar	80326	WNT10A	ORPHA:99798
HP:0011076	Abnormality of premolar	1896	EDA	ORPHA:99798
HP:0011076	Abnormality of premolar	8313	AXIN2	ORPHA:99798
HP:0011076	Abnormality of premolar	3664	IRF6	ORPHA:99798
HP:0011076	Abnormality of premolar	4040	LRP6	ORPHA:99798
HP:0011076	Abnormality of premolar	7039	TGFA	ORPHA:99798
HP:0011076	Abnormality of premolar	7480	WNT10B	ORPHA:99798
HP:0011077	Abnormality of molar	64388	GREM2	OMIM:617275
HP:0011077	Abnormality of molar	10117	ENAM	OMIM:204650
HP:0011077	Abnormality of molar	2972	BRF1	OMIM:616202
HP:0011077	Abnormality of molar	2972	BRF1	ORPHA:444072
HP:0011077	Abnormality of molar	2591	GALNT3	OMIM:211900
HP:0011077	Abnormality of molar	1107	CHD3	OMIM:618205
HP:0011077	Abnormality of molar	2248	FGF3	ORPHA:2791
HP:0011077	Abnormality of molar	5189	PEX1	ORPHA:3220
HP:0011077	Abnormality of molar	5190	PEX6	ORPHA:3220
HP:0011077	Abnormality of molar	8626	TP63	OMIM:129400
HP:0011077	Abnormality of molar	8626	TP63	ORPHA:1896
HP:0011077	Abnormality of molar	4750	NEK1	ORPHA:2751
HP:0011077	Abnormality of molar	2697	GJA1	ORPHA:2710
HP:0011077	Abnormality of molar	2697	GJA1	OMIM:164200
HP:0011077	Abnormality of molar	64094	SMOC2	OMIM:125400
HP:0011077	Abnormality of molar	1747	DLX3	OMIM:190320
HP:0011077	Abnormality of molar	1747	DLX3	ORPHA:3352
HP:0011077	Abnormality of molar	1747	DLX3	OMIM:104510
HP:0011077	Abnormality of molar	57728	WDR19	OMIM:614378
HP:0011077	Abnormality of molar	57728	WDR19	ORPHA:1515
HP:0011077	Abnormality of molar	80169	CTC1	ORPHA:1775
HP:0011077	Abnormality of molar	26277	TINF2	ORPHA:1775
HP:0011077	Abnormality of molar	55651	NHP2	ORPHA:1775
HP:0011077	Abnormality of molar	79650	USB1	ORPHA:1775
HP:0011077	Abnormality of molar	55135	WRAP53	ORPHA:1775
HP:0011077	Abnormality of molar	51750	RTEL1	ORPHA:1775
HP:0011077	Abnormality of molar	4869	NPM1	ORPHA:1775
HP:0011077	Abnormality of molar	7012	TERC	ORPHA:1775
HP:0011077	Abnormality of molar	55505	NOP10	ORPHA:1775
HP:0011077	Abnormality of molar	5073	PARN	ORPHA:1775
HP:0011077	Abnormality of molar	7015	TERT	ORPHA:1775
HP:0011077	Abnormality of molar	1736	DKC1	ORPHA:1775
HP:0011077	Abnormality of molar	7298	TYMS	ORPHA:1775
HP:0011077	Abnormality of molar	2314	FLII	ORPHA:819
HP:0011077	Abnormality of molar	23096	IQSEC2	ORPHA:819
HP:0011077	Abnormality of molar	10743	RAI1	ORPHA:819
HP:0011077	Abnormality of molar	10522	DEAF1	ORPHA:819
HP:0011077	Abnormality of molar	3914	LAMB3	OMIM:104530
HP:0011077	Abnormality of molar	57539	WDR35	ORPHA:1515
HP:0011077	Abnormality of molar	112752	IFT43	ORPHA:1515
HP:0011077	Abnormality of molar	51098	IFT52	ORPHA:1515
HP:0011077	Abnormality of molar	55764	IFT122	ORPHA:1515
HP:0011077	Abnormality of molar	4952	OCRL	ORPHA:534
HP:0011077	Abnormality of molar	50485	SMARCAL1	ORPHA:1830
HP:0011077	Abnormality of molar	6938	TCF12	OMIM:619718
HP:0011077	Abnormality of molar	2260	FGFR1	ORPHA:99798
HP:0011077	Abnormality of molar	4487	MSX1	ORPHA:99798
HP:0011077	Abnormality of molar	128178	EDARADD	ORPHA:99798
HP:0011077	Abnormality of molar	5083	PAX9	ORPHA:99798
HP:0011077	Abnormality of molar	7341	SUMO1	ORPHA:99798
HP:0011077	Abnormality of molar	80326	WNT10A	ORPHA:99798
HP:0011077	Abnormality of molar	1896	EDA	ORPHA:99798
HP:0011077	Abnormality of molar	8313	AXIN2	ORPHA:99798
HP:0011077	Abnormality of molar	3664	IRF6	ORPHA:99798
HP:0011077	Abnormality of molar	4040	LRP6	ORPHA:99798
HP:0011077	Abnormality of molar	7039	TGFA	ORPHA:99798
HP:0011077	Abnormality of molar	7480	WNT10B	ORPHA:99798
HP:0011077	Abnormality of molar	4810	NHS	OMIM:302350
HP:0011078	Abnormality of canine	2248	FGF3	ORPHA:2791
HP:0011078	Abnormality of canine	324	APC	ORPHA:261584
HP:0011078	Abnormality of canine	23028	KDM1A	ORPHA:477993
HP:0011078	Abnormality of canine	2260	FGFR1	ORPHA:99798
HP:0011078	Abnormality of canine	4487	MSX1	ORPHA:99798
HP:0011078	Abnormality of canine	128178	EDARADD	ORPHA:99798
HP:0011078	Abnormality of canine	5083	PAX9	ORPHA:99798
HP:0011078	Abnormality of canine	7341	SUMO1	ORPHA:99798
HP:0011078	Abnormality of canine	80326	WNT10A	ORPHA:99798
HP:0011078	Abnormality of canine	1896	EDA	ORPHA:99798
HP:0011078	Abnormality of canine	8313	AXIN2	ORPHA:99798
HP:0011078	Abnormality of canine	3664	IRF6	ORPHA:99798
HP:0011078	Abnormality of canine	4040	LRP6	ORPHA:99798
HP:0011078	Abnormality of canine	7039	TGFA	ORPHA:99798
HP:0011078	Abnormality of canine	7480	WNT10B	ORPHA:99798
HP:0011078	Abnormality of canine	22856	CHSY1	ORPHA:363417
HP:0011078	Abnormality of canine	83479	DDX59	ORPHA:2919
HP:0011079	Impacted tooth	5745	PTH1R	OMIM:600002
HP:0011079	Impacted tooth	2316	FLNA	OMIM:311300
HP:0011079	Impacted tooth	6452	SH3BP2	OMIM:118400
HP:0011079	Impacted tooth	3239	HOXD13	OMIM:113300
HP:0011079	Impacted tooth	4000	LMNA	ORPHA:740
HP:0011079	Impacted tooth	10269	ZMPSTE24	ORPHA:740
HP:0011079	Impacted tooth	1009	CDH11	OMIM:211380
HP:0031485	Subperiosteal bone formation	2591	GALNT3	OMIM:211900
HP:0031485	Subperiosteal bone formation	1277	COL1A1	OMIM:114000
HP:0031485	Subperiosteal bone formation	55503	TRPV6	OMIM:618188
HP:0031485	Subperiosteal bone formation	56975	FAM20C	OMIM:259775
HP:0031486	Vascular malformation of the lip	5290	PIK3CA	OMIM:613089
HP:0031486	Vascular malformation of the lip	9630	GNA14	ORPHA:1063
HP:0031487	Capillary malformation of the lip	5290	PIK3CA	OMIM:613089
HP:0008020	Cone dystrophy	5149	PDE6H	OMIM:610024
HP:0000541	Retinal detachment	64132	XYLT2	OMIM:605822
HP:0000541	Retinal detachment	64132	XYLT2	ORPHA:85194
HP:0000541	Retinal detachment	8322	FZD4	OMIM:133780
HP:0000541	Retinal detachment	4041	LRP5	OMIM:133780
HP:0000541	Retinal detachment	4041	LRP5	ORPHA:2788
HP:0000541	Retinal detachment	875	CBS	ORPHA:394
HP:0000541	Retinal detachment	778	CACNA1F	OMIM:300476
HP:0000541	Retinal detachment	6399	TRAPPC2	ORPHA:93284
HP:0000541	Retinal detachment	286053	NSMCE2	OMIM:617253
HP:0000541	Retinal detachment	286053	NSMCE2	ORPHA:436182
HP:0000541	Retinal detachment	5351	PLOD1	OMIM:225400
HP:0000541	Retinal detachment	5351	PLOD1	ORPHA:1900
HP:0000541	Retinal detachment	1859	DYRK1A	ORPHA:268261
HP:0000541	Retinal detachment	1859	DYRK1A	ORPHA:464311
HP:0000541	Retinal detachment	220	ALDH1A3	OMIM:615113
HP:0000541	Retinal detachment	4897	NRCAM	OMIM:619833
HP:0000541	Retinal detachment	4693	NDP	OMIM:310600
HP:0000541	Retinal detachment	4693	NDP	ORPHA:190
HP:0000541	Retinal detachment	4693	NDP	ORPHA:649
HP:0000541	Retinal detachment	4693	NDP	OMIM:305390
HP:0000541	Retinal detachment	1301	COL11A1	OMIM:604841
HP:0000541	Retinal detachment	1301	COL11A1	OMIM:154780
HP:0000541	Retinal detachment	1301	COL11A1	ORPHA:560
HP:0000541	Retinal detachment	1301	COL11A1	ORPHA:90654
HP:0000541	Retinal detachment	1301	COL11A1	ORPHA:250984
HP:0000541	Retinal detachment	9227	LRAT	ORPHA:364055
HP:0000541	Retinal detachment	55812	SPATA7	ORPHA:364055
HP:0000541	Retinal detachment	6121	RPE65	ORPHA:364055
HP:0000541	Retinal detachment	167691	LCA5	ORPHA:364055
HP:0000541	Retinal detachment	64412	GZF1	OMIM:617662
HP:0000541	Retinal detachment	10413	YAP1	ORPHA:1473
HP:0000541	Retinal detachment	5728	PTEN	ORPHA:2969
HP:0000541	Retinal detachment	2314	FLII	ORPHA:819
HP:0000541	Retinal detachment	23096	IQSEC2	ORPHA:819
HP:0000541	Retinal detachment	10743	RAI1	ORPHA:819
HP:0000541	Retinal detachment	10743	RAI1	OMIM:182290
HP:0000541	Retinal detachment	10522	DEAF1	ORPHA:819
HP:0000541	Retinal detachment	29072	SETD2	OMIM:620157
HP:0000541	Retinal detachment	29072	SETD2	OMIM:620155
HP:0000541	Retinal detachment	29954	POMT2	OMIM:236670
HP:0000541	Retinal detachment	29954	POMT2	ORPHA:899
HP:0000541	Retinal detachment	29954	POMT2	ORPHA:370959
HP:0000541	Retinal detachment	9215	LARGE1	OMIM:236670
HP:0000541	Retinal detachment	9215	LARGE1	ORPHA:899
HP:0000541	Retinal detachment	79147	FKRP	OMIM:236670
HP:0000541	Retinal detachment	79147	FKRP	ORPHA:899
HP:0000541	Retinal detachment	79147	FKRP	ORPHA:370959
HP:0000541	Retinal detachment	79147	FKRP	OMIM:613153
HP:0000541	Retinal detachment	10585	POMT1	OMIM:236670
HP:0000541	Retinal detachment	10585	POMT1	ORPHA:899
HP:0000541	Retinal detachment	10585	POMT1	ORPHA:370959
HP:0000541	Retinal detachment	2218	FKTN	OMIM:236670
HP:0000541	Retinal detachment	2218	FKTN	ORPHA:899
HP:0000541	Retinal detachment	2218	FKTN	OMIM:253800
HP:0000541	Retinal detachment	84892	POMGNT2	ORPHA:899
HP:0000541	Retinal detachment	148789	B3GALNT2	ORPHA:899
HP:0000541	Retinal detachment	148789	B3GALNT2	OMIM:615181
HP:0000541	Retinal detachment	1282	COL4A1	ORPHA:899
HP:0000541	Retinal detachment	729920	CRPPA	ORPHA:899
HP:0000541	Retinal detachment	729920	CRPPA	OMIM:614643
HP:0000541	Retinal detachment	10329	RXYLT1	ORPHA:899
HP:0000541	Retinal detachment	1605	DAG1	ORPHA:899
HP:0000541	Retinal detachment	11041	B4GAT1	ORPHA:899
HP:0000541	Retinal detachment	84197	POMK	ORPHA:899
HP:0000541	Retinal detachment	84197	POMK	ORPHA:370959
HP:0000541	Retinal detachment	55624	POMGNT1	ORPHA:899
HP:0000541	Retinal detachment	55624	POMGNT1	ORPHA:370959
HP:0000541	Retinal detachment	5080	PAX6	ORPHA:35737
HP:0000541	Retinal detachment	5080	PAX6	OMIM:120430
HP:0000541	Retinal detachment	3105	HLA-A	ORPHA:179
HP:0000541	Retinal detachment	7439	BEST1	OMIM:613194
HP:0000541	Retinal detachment	7439	BEST1	OMIM:193220
HP:0000541	Retinal detachment	2200	FBN1	OMIM:154700
HP:0000541	Retinal detachment	2200	FBN1	ORPHA:2833
HP:0000541	Retinal detachment	1298	COL9A2	OMIM:614284
HP:0000541	Retinal detachment	1298	COL9A2	ORPHA:250984
HP:0000541	Retinal detachment	7275	TUB	OMIM:616188
HP:0000541	Retinal detachment	113189	CHST14	ORPHA:2953
HP:0000541	Retinal detachment	113189	CHST14	OMIM:601776
HP:0000541	Retinal detachment	29940	DSE	ORPHA:2953
HP:0000541	Retinal detachment	79797	ZNF408	OMIM:616468
HP:0000541	Retinal detachment	54880	BCOR	ORPHA:2712
HP:0000541	Retinal detachment	54880	BCOR	OMIM:300166
HP:0000541	Retinal detachment	91851	CHRDL1	OMIM:309300
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:94068
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:156550
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:90653
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:183900
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:1856
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:108300
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:93296
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:485
HP:0000541	Retinal detachment	3913	LAMB2	OMIM:609049
HP:0000541	Retinal detachment	79087	ALG12	OMIM:607143
HP:0000541	Retinal detachment	79087	ALG12	ORPHA:79324
HP:0000541	Retinal detachment	55214	P3H2	OMIM:614292
HP:0000541	Retinal detachment	55714	TENM3	OMIM:615145
HP:0000541	Retinal detachment	92949	ADAMTSL1	ORPHA:521445
HP:0000541	Retinal detachment	80781	COL18A1	ORPHA:1571
HP:0000541	Retinal detachment	80781	COL18A1	OMIM:267750
HP:0000541	Retinal detachment	5062	PAK2	ORPHA:1571
HP:0000541	Retinal detachment	5062	PAK2	OMIM:618458
HP:0000541	Retinal detachment	4036	LRP2	ORPHA:2143
HP:0000541	Retinal detachment	4036	LRP2	OMIM:222448
HP:0000541	Retinal detachment	1499	CTNNB1	OMIM:617572
HP:0000541	Retinal detachment	54507	ADAMTSL4	OMIM:225200
HP:0000541	Retinal detachment	10526	IPO8	OMIM:619472
HP:0000541	Retinal detachment	6247	RS1	OMIM:312700
HP:0000541	Retinal detachment	4810	NHS	ORPHA:627
HP:0000541	Retinal detachment	8314	BAP1	ORPHA:39044
HP:0000541	Retinal detachment	57105	CYSLTR2	ORPHA:39044
HP:0000541	Retinal detachment	2776	GNAQ	ORPHA:39044
HP:0000541	Retinal detachment	2776	GNAQ	ORPHA:3205
HP:0000541	Retinal detachment	2767	GNA11	ORPHA:39044
HP:0000541	Retinal detachment	2767	GNA11	ORPHA:1556
HP:0000541	Retinal detachment	23451	SF3B1	ORPHA:39044
HP:0000541	Retinal detachment	8517	IKBKG	ORPHA:464
HP:0000541	Retinal detachment	8517	IKBKG	OMIM:308300
HP:0000541	Retinal detachment	29925	GMPPB	ORPHA:370959
HP:0000541	Retinal detachment	726	CAPN5	OMIM:193235
HP:0000541	Retinal detachment	3832	KIF11	ORPHA:2526
HP:0000541	Retinal detachment	3832	KIF11	OMIM:152950
HP:0000541	Retinal detachment	7518	XRCC4	ORPHA:436182
HP:0000541	Retinal detachment	11107	PRDM5	ORPHA:90354
HP:0000541	Retinal detachment	84627	ZNF469	ORPHA:90354
HP:0000541	Retinal detachment	151188	ARL6IP6	ORPHA:1556
HP:0000541	Retinal detachment	7428	VHL	ORPHA:892
HP:0000541	Retinal detachment	595	CCND1	ORPHA:892
HP:0000541	Retinal detachment	3769	KCNJ13	OMIM:193230
HP:0000541	Retinal detachment	8974	P4HA2	OMIM:617238
HP:0000541	Retinal detachment	4094	MAF	OMIM:610202
HP:0000541	Retinal detachment	4990	SIX6	OMIM:212550
HP:0000541	Retinal detachment	3166	HMX1	OMIM:612109
HP:0000541	Retinal detachment	1302	COL11A2	ORPHA:1427
HP:0000541	Retinal detachment	5076	PAX2	OMIM:120330
HP:0000541	Retinal detachment	84695	LOXL3	OMIM:619781
HP:0000541	Retinal detachment	84695	LOXL3	ORPHA:250984
HP:0000541	Retinal detachment	355	FAS	ORPHA:3437
HP:0000541	Retinal detachment	26191	PTPN22	ORPHA:3437
HP:0000541	Retinal detachment	85378	TUBGCP6	OMIM:251270
HP:0000541	Retinal detachment	1297	COL9A1	ORPHA:250984
HP:0000541	Retinal detachment	1299	COL9A3	ORPHA:250984
HP:0000541	Retinal detachment	1545	CYP1B1	ORPHA:98976
HP:0000541	Retinal detachment	4053	LTBP2	ORPHA:98976
HP:0000541	Retinal detachment	4653	MYOC	ORPHA:98976
HP:0000541	Retinal detachment	7010	TEK	ORPHA:98976
HP:0000541	Retinal detachment	80036	TRPM3	OMIM:620253
HP:0000541	Retinal detachment	1462	VCAN	OMIM:143200
HP:0000541	Retinal detachment	5961	PRPH2	ORPHA:99000
HP:0000541	Retinal detachment	50939	IMPG2	ORPHA:99000
HP:0000541	Retinal detachment	3617	IMPG1	ORPHA:99000
HP:0000541	Retinal detachment	207	AKT1	ORPHA:744
HP:0000541	Retinal detachment	23554	TSPAN12	OMIM:613310
HP:0000541	Retinal detachment	23554	TSPAN12	ORPHA:891
HP:0000541	Retinal detachment	220202	ATOH7	ORPHA:91495
HP:0000541	Retinal detachment	3490	IGFBP7	OMIM:614224
HP:0000541	Retinal detachment	2202	EFEMP1	ORPHA:75376
HP:0000541	Retinal detachment	3075	CFH	ORPHA:75376
HP:0000541	Retinal detachment	3426	CFI	ORPHA:75376
HP:0000541	Retinal detachment	2483	FRG1	OMIM:158900
HP:0007973	Retinal dysplasia	2218	FKTN	ORPHA:272
HP:0007973	Retinal dysplasia	2218	FKTN	OMIM:253800
HP:0007973	Retinal dysplasia	2218	FKTN	OMIM:236670
HP:0007973	Retinal dysplasia	2218	FKTN	ORPHA:899
HP:0007973	Retinal dysplasia	134218	DNAJC21	OMIM:617052
HP:0007973	Retinal dysplasia	203068	TUBB	OMIM:615771
HP:0007973	Retinal dysplasia	9215	LARGE1	OMIM:613154
HP:0007973	Retinal dysplasia	9215	LARGE1	OMIM:236670
HP:0007973	Retinal dysplasia	9215	LARGE1	ORPHA:899
HP:0007973	Retinal dysplasia	729920	CRPPA	OMIM:614643
HP:0007973	Retinal dysplasia	729920	CRPPA	ORPHA:899
HP:0007973	Retinal dysplasia	2301	FOXE3	ORPHA:83461
HP:0007973	Retinal dysplasia	55624	POMGNT1	OMIM:253280
HP:0007973	Retinal dysplasia	55624	POMGNT1	ORPHA:899
HP:0007973	Retinal dysplasia	56623	INPP5E	OMIM:213300
HP:0007973	Retinal dysplasia	4693	NDP	OMIM:310600
HP:0007973	Retinal dysplasia	54539	NDUFB11	ORPHA:2556
HP:0007973	Retinal dysplasia	1349	COX7B	ORPHA:2556
HP:0007973	Retinal dysplasia	3052	HCCS	ORPHA:2556
HP:0007973	Retinal dysplasia	10329	RXYLT1	OMIM:615041
HP:0007973	Retinal dysplasia	10329	RXYLT1	ORPHA:899
HP:0007973	Retinal dysplasia	11041	B4GAT1	OMIM:615287
HP:0007973	Retinal dysplasia	11041	B4GAT1	ORPHA:899
HP:0007973	Retinal dysplasia	2317	FLNB	ORPHA:1190
HP:0007973	Retinal dysplasia	5147	PDE6D	OMIM:615665
HP:0007973	Retinal dysplasia	84892	POMGNT2	OMIM:614830
HP:0007973	Retinal dysplasia	84892	POMGNT2	ORPHA:899
HP:0007973	Retinal dysplasia	3832	KIF11	ORPHA:2526
HP:0007973	Retinal dysplasia	29954	POMT2	OMIM:236670
HP:0007973	Retinal dysplasia	29954	POMT2	ORPHA:899
HP:0007973	Retinal dysplasia	79147	FKRP	OMIM:236670
HP:0007973	Retinal dysplasia	79147	FKRP	ORPHA:899
HP:0007973	Retinal dysplasia	10585	POMT1	OMIM:236670
HP:0007973	Retinal dysplasia	10585	POMT1	ORPHA:899
HP:0007973	Retinal dysplasia	148789	B3GALNT2	ORPHA:899
HP:0007973	Retinal dysplasia	1282	COL4A1	ORPHA:899
HP:0007973	Retinal dysplasia	1605	DAG1	ORPHA:899
HP:0007973	Retinal dysplasia	84197	POMK	ORPHA:899
HP:0001141	Severely reduced visual acuity	261734	NPHP4	OMIM:606996
HP:0001141	Severely reduced visual acuity	3769	KCNJ13	ORPHA:65
HP:0001141	Severely reduced visual acuity	343035	RD3	ORPHA:65
HP:0001141	Severely reduced visual acuity	145226	RDH12	ORPHA:65
HP:0001141	Severely reduced visual acuity	1406	CRX	ORPHA:65
HP:0001141	Severely reduced visual acuity	64802	NMNAT1	ORPHA:65
HP:0001141	Severely reduced visual acuity	57096	RPGRIP1	ORPHA:65
HP:0001141	Severely reduced visual acuity	57096	RPGRIP1	OMIM:613826
HP:0001141	Severely reduced visual acuity	80184	CEP290	ORPHA:65
HP:0001141	Severely reduced visual acuity	10383	TUBB4B	ORPHA:65
HP:0001141	Severely reduced visual acuity	9742	IFT140	ORPHA:65
HP:0001141	Severely reduced visual acuity	85015	USP45	ORPHA:65
HP:0001141	Severely reduced visual acuity	6121	RPE65	ORPHA:65
HP:0001141	Severely reduced visual acuity	6121	RPE65	OMIM:613794
HP:0001141	Severely reduced visual acuity	23418	CRB1	ORPHA:65
HP:0001141	Severely reduced visual acuity	5130	PCYT1A	ORPHA:65
HP:0001141	Severely reduced visual acuity	9657	IQCB1	ORPHA:65
HP:0001141	Severely reduced visual acuity	392255	GDF6	ORPHA:65
HP:0001141	Severely reduced visual acuity	23746	AIPL1	ORPHA:65
HP:0001141	Severely reduced visual acuity	3000	GUCY2D	ORPHA:65
HP:0001141	Severely reduced visual acuity	9227	LRAT	ORPHA:65
HP:0001141	Severely reduced visual acuity	55812	SPATA7	ORPHA:65
HP:0001141	Severely reduced visual acuity	7287	TULP1	ORPHA:65
HP:0001141	Severely reduced visual acuity	167691	LCA5	ORPHA:65
HP:0001141	Severely reduced visual acuity	3614	IMPDH1	ORPHA:65
HP:0001141	Severely reduced visual acuity	4693	NDP	ORPHA:891
HP:0001141	Severely reduced visual acuity	1499	CTNNB1	ORPHA:891
HP:0001141	Severely reduced visual acuity	23554	TSPAN12	ORPHA:891
HP:0001141	Severely reduced visual acuity	4041	LRP5	ORPHA:891
HP:0001141	Severely reduced visual acuity	4041	LRP5	ORPHA:2788
HP:0001141	Severely reduced visual acuity	79797	ZNF408	ORPHA:891
HP:0001141	Severely reduced visual acuity	8322	FZD4	ORPHA:891
HP:0001141	Severely reduced visual acuity	285440	CYP4V2	ORPHA:41751
HP:0001141	Severely reduced visual acuity	4166	CHST6	ORPHA:98969
HP:0001141	Severely reduced visual acuity	3257	HPS1	OMIM:203300
HP:0001141	Severely reduced visual acuity	130557	ZNF513	OMIM:613617
HP:0001141	Severely reduced visual acuity	28962	OSTM1	OMIM:259720
HP:0001141	Severely reduced visual acuity	4810	NHS	OMIM:302200
HP:0001141	Severely reduced visual acuity	10195	ALG3	OMIM:601110
HP:0001141	Severely reduced visual acuity	54714	CNGB3	OMIM:262300
HP:0001141	Severely reduced visual acuity	114902	C1QTNF5	ORPHA:67042
HP:0001141	Severely reduced visual acuity	8481	OFD1	OMIM:300424
HP:0001141	Severely reduced visual acuity	778	CACNA1F	OMIM:300600
HP:0001141	Severely reduced visual acuity	6809	STX3	OMIM:619446
HP:0001141	Severely reduced visual acuity	8842	PROM1	OMIM:612095
HP:0001141	Severely reduced visual acuity	7466	WFS1	OMIM:614296
HP:0001141	Severely reduced visual acuity	7078	TIMP3	ORPHA:59181
HP:0007936	Restrictive external ophthalmoplegia	401	PHOX2A	OMIM:602078
HP:0007936	Restrictive external ophthalmoplegia	55605	KIF21A	OMIM:135700
HP:0007990	Hypoplastic iris stroma	57167	SALL4	ORPHA:233
HP:0007990	Hypoplastic iris stroma	9935	MAFB	ORPHA:233
HP:0007990	Hypoplastic iris stroma	1123	CHN1	ORPHA:233
HP:0007990	Hypoplastic iris stroma	5080	PAX6	ORPHA:2334
HP:0007990	Hypoplastic iris stroma	2296	FOXC1	OMIM:601631
HP:0007990	Hypoplastic iris stroma	4286	MITF	OMIM:193510
HP:0007990	Hypoplastic iris stroma	5077	PAX3	OMIM:193500
HP:0007990	Hypoplastic iris stroma	5308	PITX2	OMIM:137600
HP:0008028	Cystoid macular degeneration	10002	NR2E3	OMIM:611131
HP:0008028	Cystoid macular degeneration	7439	BEST1	ORPHA:1243
HP:0008028	Cystoid macular degeneration	7439	BEST1	OMIM:153700
HP:0007772	Impaired smooth pursuit	5981	RFC1	OMIM:614575
HP:0007772	Impaired smooth pursuit	4287	ATXN3	OMIM:109150
HP:0007772	Impaired smooth pursuit	1938	EEF2	OMIM:609306
HP:0007772	Impaired smooth pursuit	1938	EEF2	ORPHA:101112
HP:0007772	Impaired smooth pursuit	55703	POLR3B	OMIM:614381
HP:0007772	Impaired smooth pursuit	6310	ATXN1	OMIM:164400
HP:0007772	Impaired smooth pursuit	6311	ATXN2	OMIM:183090
HP:0007772	Impaired smooth pursuit	6812	STXBP1	OMIM:612164
HP:0007772	Impaired smooth pursuit	6904	TBCD	ORPHA:496641
HP:0007772	Impaired smooth pursuit	6904	TBCD	OMIM:617193
HP:0007772	Impaired smooth pursuit	8818	DPM2	ORPHA:329178
HP:0007772	Impaired smooth pursuit	5917	RARS1	OMIM:616140
HP:0007772	Impaired smooth pursuit	5917	RARS1	ORPHA:438114
HP:0007772	Impaired smooth pursuit	3708	ITPR1	OMIM:606658
HP:0007772	Impaired smooth pursuit	3752	KCND3	ORPHA:98772
HP:0007772	Impaired smooth pursuit	773	CACNA1A	OMIM:183086
HP:0007772	Impaired smooth pursuit	5621	PRNP	OMIM:137440
HP:0007772	Impaired smooth pursuit	7518	XRCC4	OMIM:616541
HP:0007772	Impaired smooth pursuit	4125	MAN2B1	OMIM:248500
HP:0007772	Impaired smooth pursuit	23345	SYNE1	ORPHA:88644
HP:0007772	Impaired smooth pursuit	255928	SYT14	OMIM:614229
HP:0007772	Impaired smooth pursuit	54974	THG1L	OMIM:618800
HP:0007772	Impaired smooth pursuit	283989	TSEN54	OMIM:277470
HP:0007772	Impaired smooth pursuit	51259	TMEM216	OMIM:608091
HP:0007772	Impaired smooth pursuit	56623	INPP5E	OMIM:213300
HP:0007772	Impaired smooth pursuit	5048	PAFAH1B1	ORPHA:95232
HP:0007772	Impaired smooth pursuit	4361	MRE11	OMIM:604391
HP:0007772	Impaired smooth pursuit	724066	ATXN8	ORPHA:98760
HP:0007772	Impaired smooth pursuit	724066	ATXN8	OMIM:608768
HP:0007772	Impaired smooth pursuit	6315	ATXN8OS	ORPHA:98760
HP:0007772	Impaired smooth pursuit	6315	ATXN8OS	OMIM:608768
HP:0007772	Impaired smooth pursuit	25814	ATXN10	ORPHA:98761
HP:0007772	Impaired smooth pursuit	25814	ATXN10	OMIM:603516
HP:0007772	Impaired smooth pursuit	5162	PDHB	ORPHA:255138
HP:0007772	Impaired smooth pursuit	2512	FTL	ORPHA:157846
HP:0007772	Impaired smooth pursuit	6712	SPTBN2	OMIM:600224
HP:0007772	Impaired smooth pursuit	10528	NOP56	OMIM:614153
HP:0007772	Impaired smooth pursuit	2782	GNB1	ORPHA:488613
HP:0007772	Impaired smooth pursuit	2782	GNB1	OMIM:616973
HP:0007772	Impaired smooth pursuit	5192	PEX10	OMIM:614871
HP:0007772	Impaired smooth pursuit	5192	PEX10	ORPHA:247815
HP:0007772	Impaired smooth pursuit	10352	WARS2	ORPHA:572798
HP:0007772	Impaired smooth pursuit	2259	FGF14	OMIM:193003
HP:0007772	Impaired smooth pursuit	3781	KCNN2	OMIM:619724
HP:0007772	Impaired smooth pursuit	7287	TULP1	OMIM:613843
HP:0007772	Impaired smooth pursuit	8398	PLA2G6	OMIM:610217
HP:0007772	Impaired smooth pursuit	6785	ELOVL4	OMIM:133190
HP:0007772	Impaired smooth pursuit	26278	SACS	OMIM:270550
HP:0007772	Impaired smooth pursuit	3703	STT3A	ORPHA:370921
HP:0031490	Hemangioma of the lip	9630	GNA14	ORPHA:1063
HP:0031491	Continuous spike and waves during slow sleep	3747	KCNC2	OMIM:619913
HP:0031491	Continuous spike and waves during slow sleep	27286	SRPX2	ORPHA:163721
HP:0031491	Continuous spike and waves during slow sleep	2903	GRIN2A	ORPHA:163721
HP:0031491	Continuous spike and waves during slow sleep	2903	GRIN2A	ORPHA:98818
HP:0031491	Continuous spike and waves during slow sleep	2903	GRIN2A	ORPHA:725
HP:0031491	Continuous spike and waves during slow sleep	2903	GRIN2A	OMIM:245570
HP:0031491	Continuous spike and waves during slow sleep	781	CACNA2D1	OMIM:620149
HP:0031491	Continuous spike and waves during slow sleep	81603	TRIM8	OMIM:619428
HP:0031491	Continuous spike and waves during slow sleep	23732	FRRS1L	ORPHA:725
HP:0031491	Continuous spike and waves during slow sleep	80036	TRPM3	OMIM:620224
HP:0031491	Continuous spike and waves during slow sleep	22866	CNKSR2	OMIM:301008
HP:0031492	Epithelial neoplasm	22861	NLRP1	OMIM:615225
HP:0031492	Epithelial neoplasm	5728	PTEN	OMIM:158350
HP:0031492	Epithelial neoplasm	324	APC	OMIM:175100
HP:0031492	Epithelial neoplasm	284654	RSPO1	OMIM:610644
HP:0031492	Epithelial neoplasm	1027	CDKN1B	OMIM:610755
HP:0031492	Epithelial neoplasm	1736	DKC1	OMIM:305000
HP:0031492	Epithelial neoplasm	5426	POLE	OMIM:615083
HP:0011081	Incisor macrodontia	2972	BRF1	OMIM:616202
HP:0011081	Incisor macrodontia	2972	BRF1	ORPHA:444072
HP:0011081	Incisor macrodontia	1301	COL11A1	OMIM:154780
HP:0011081	Incisor macrodontia	8911	CACNA1I	OMIM:620114
HP:0011081	Incisor macrodontia	10664	CTCF	ORPHA:363611
HP:0011081	Incisor macrodontia	10667	FARS2	ORPHA:466722
HP:0011081	Incisor macrodontia	3778	KCNMA1	OMIM:618729
HP:0011081	Incisor macrodontia	2892	GRIA3	ORPHA:364028
HP:0011081	Incisor macrodontia	526	ATP6V1B2	ORPHA:79500
HP:0011081	Incisor macrodontia	57465	TBC1D24	ORPHA:79500
HP:0011081	Incisor macrodontia	2697	GJA1	OMIM:257850
HP:0011081	Incisor macrodontia	157680	VPS13B	OMIM:216550
HP:0011081	Incisor macrodontia	23241	PACS2	OMIM:618067
HP:0011081	Incisor macrodontia	51305	KCNK9	ORPHA:166108
HP:0011081	Incisor macrodontia	5813	PURA	ORPHA:438216
HP:0011081	Incisor macrodontia	10060	ABCC9	OMIM:619719
HP:0011082	Conical primary incisor	6768	ST14	OMIM:602400
HP:0011084	Hypocalcification of dental enamel	84957	RELT	OMIM:618386
HP:0011085	Hypomature dental enamel	256764	WDR72	OMIM:613211
HP:0011087	Talon cusp	2033	EP300	OMIM:613684
HP:0011087	Talon cusp	2033	EP300	OMIM:180849
HP:0011087	Talon cusp	2033	EP300	ORPHA:353284
HP:0011087	Talon cusp	1387	CREBBP	OMIM:180849
HP:0011087	Talon cusp	1387	CREBBP	ORPHA:353277
HP:0011087	Talon cusp	1387	CREBBP	ORPHA:353281
HP:0011087	Talon cusp	4750	NEK1	ORPHA:2751
HP:0011087	Talon cusp	22856	CHSY1	OMIM:605282
HP:0011087	Talon cusp	22856	CHSY1	ORPHA:363417
HP:0011089	Double tooth	54880	BCOR	ORPHA:2712
HP:0011089	Double tooth	54880	BCOR	OMIM:300166
HP:0011089	Double tooth	9968	MED12	ORPHA:93932
HP:0011089	Double tooth	57539	WDR35	OMIM:614091
HP:0011089	Double tooth	57539	WDR35	OMIM:613610
HP:0011089	Double tooth	7355	SLC35A2	OMIM:300896
HP:0008031	Posterior Y-sutural cataract	1411	CRYBA1	OMIM:600881
HP:0008031	Posterior Y-sutural cataract	4810	NHS	OMIM:302350
HP:0008031	Posterior Y-sutural cataract	10484	SEC23A	OMIM:607812
HP:0008031	Posterior Y-sutural cataract	10484	SEC23A	ORPHA:50814
HP:0001126	Cryptophthalmos	23426	GRIP1	OMIM:617667
HP:0001126	Cryptophthalmos	23426	GRIP1	ORPHA:2052
HP:0001126	Cryptophthalmos	341640	FREM2	OMIM:617666
HP:0001126	Cryptophthalmos	341640	FREM2	OMIM:123570
HP:0001126	Cryptophthalmos	341640	FREM2	ORPHA:2052
HP:0001126	Cryptophthalmos	158326	FREM1	ORPHA:2717
HP:0001126	Cryptophthalmos	158326	FREM1	OMIM:248450
HP:0001126	Cryptophthalmos	10586	MAB21L2	OMIM:615877
HP:0001126	Cryptophthalmos	80144	FRAS1	ORPHA:2052
HP:0001126	Cryptophthalmos	80144	FRAS1	OMIM:219000
HP:0001126	Cryptophthalmos	117581	TWIST2	OMIM:200110
HP:0001126	Cryptophthalmos	117581	TWIST2	ORPHA:920
HP:0000577	Exotropia	6535	SLC6A8	OMIM:300352
HP:0000577	Exotropia	23394	ADNP	ORPHA:404448
HP:0000577	Exotropia	104	ADARB1	OMIM:618862
HP:0000577	Exotropia	6477	SIAH1	OMIM:619314
HP:0000577	Exotropia	23135	KDM6B	OMIM:618505
HP:0000577	Exotropia	7299	TYR	OMIM:203100
HP:0000577	Exotropia	79912	PYROXD1	OMIM:617258
HP:0000577	Exotropia	7355	SLC35A2	ORPHA:356961
HP:0000577	Exotropia	1798	DPAGT1	OMIM:608093
HP:0000577	Exotropia	1798	DPAGT1	ORPHA:86309
HP:0000577	Exotropia	55325	UFSP2	OMIM:620028
HP:0000577	Exotropia	23028	KDM1A	OMIM:616728
HP:0000577	Exotropia	23028	KDM1A	ORPHA:477993
HP:0000577	Exotropia	778	CACNA1F	OMIM:300071
HP:0000577	Exotropia	91147	TMEM67	OMIM:602152
HP:0000577	Exotropia	10093	ARPC4	OMIM:620141
HP:0000577	Exotropia	5631	PRPS1	ORPHA:423479
HP:0000577	Exotropia	9227	LRAT	ORPHA:364055
HP:0000577	Exotropia	55812	SPATA7	ORPHA:364055
HP:0000577	Exotropia	6121	RPE65	ORPHA:364055
HP:0000577	Exotropia	167691	LCA5	ORPHA:364055
HP:0000577	Exotropia	6873	TAF2	ORPHA:397951
HP:0000577	Exotropia	65993	MRPS34	OMIM:617664
HP:0000577	Exotropia	2782	GNB1	OMIM:616973
HP:0000577	Exotropia	998	CDC42	OMIM:616737
HP:0000577	Exotropia	998	CDC42	ORPHA:487796
HP:0000577	Exotropia	55768	NGLY1	ORPHA:404454
HP:0000577	Exotropia	6660	SOX5	ORPHA:313892
HP:0000577	Exotropia	473	RERE	ORPHA:494344
HP:0000577	Exotropia	9289	ADGRG1	OMIM:606854
HP:0000577	Exotropia	2200	FBN1	OMIM:154700
HP:0000577	Exotropia	55906	ZC4H2	OMIM:314580
HP:0000577	Exotropia	63035	BCORL1	OMIM:301029
HP:0000577	Exotropia	10381	TUBB3	OMIM:600638
HP:0000577	Exotropia	10352	WARS2	OMIM:617710
HP:0000577	Exotropia	10352	WARS2	ORPHA:572798
HP:0000577	Exotropia	91137	SLC25A46	OMIM:616505
HP:0000577	Exotropia	36	ACADSB	OMIM:610006
HP:0000577	Exotropia	22827	PUF60	ORPHA:508488
HP:0000577	Exotropia	6045	RNF2	OMIM:619460
HP:0000577	Exotropia	6899	TBX1	OMIM:188400
HP:0000577	Exotropia	23418	CRB1	OMIM:600105
HP:0000577	Exotropia	51651	PTRH2	ORPHA:456312
HP:0000577	Exotropia	51651	PTRH2	OMIM:616263
HP:0000577	Exotropia	5442	POLRMT	OMIM:619743
HP:0000577	Exotropia	54681	P4HTM	OMIM:618493
HP:0000577	Exotropia	3188	HNRNPH2	OMIM:300986
HP:0000577	Exotropia	2783	GNB2	OMIM:619503
HP:0000577	Exotropia	23268	DNMBP	OMIM:618415
HP:0000577	Exotropia	9419	CRIPT	OMIM:615789
HP:0000577	Exotropia	6297	SALL2	OMIM:216820
HP:0000577	Exotropia	401	PHOX2A	OMIM:602078
HP:0000577	Exotropia	9997	SCO2	OMIM:604377
HP:0000577	Exotropia	9997	SCO2	ORPHA:521411
HP:0000577	Exotropia	1947	EFNB1	OMIM:304110
HP:0000577	Exotropia	7025	NR2F1	ORPHA:401777
HP:0000577	Exotropia	2261	FGFR3	OMIM:616482
HP:0000577	Exotropia	2261	FGFR3	ORPHA:2363
HP:0000577	Exotropia	57187	THOC2	OMIM:300957
HP:0000577	Exotropia	149371	EXOC8	OMIM:619076
HP:0000577	Exotropia	23126	POGZ	OMIM:616364
HP:0000577	Exotropia	94137	RP1L1	OMIM:618826
HP:0000577	Exotropia	9255	AIMP1	OMIM:260600
HP:0000577	Exotropia	773	CACNA1A	ORPHA:2131
HP:0000577	Exotropia	6507	SLC1A3	ORPHA:2131
HP:0000577	Exotropia	477	ATP1A2	ORPHA:2131
HP:0000577	Exotropia	478	ATP1A3	ORPHA:2131
HP:0000577	Exotropia	90624	LYRM7	OMIM:615838
HP:0000577	Exotropia	1282	COL4A1	OMIM:175780
HP:0000577	Exotropia	80036	TRPM3	OMIM:620224
HP:0000577	Exotropia	6134	RPL10	ORPHA:459070
HP:0000577	Exotropia	6638	SNRPN	OMIM:105830
HP:0000577	Exotropia	7337	UBE3A	OMIM:105830
HP:0000577	Exotropia	1859	DYRK1A	ORPHA:464311
HP:0000577	Exotropia	283209	PGM2L1	OMIM:620191
HP:0000577	Exotropia	54880	BCOR	OMIM:300166
HP:0000577	Exotropia	26503	SLC17A5	OMIM:604369
HP:0000577	Exotropia	8567	MADD	OMIM:619005
HP:0000577	Exotropia	388552	BLOC1S3	OMIM:614077
HP:0000577	Exotropia	56098	PCDHGC4	OMIM:619880
HP:0000577	Exotropia	4617	MYF5	OMIM:618155
HP:0000577	Exotropia	2263	FGFR2	ORPHA:2363
HP:0000577	Exotropia	2255	FGF10	ORPHA:2363
HP:0000577	Exotropia	55717	WDR11	OMIM:620237
HP:0000577	Exotropia	29920	PYCR2	OMIM:616420
HP:0000577	Exotropia	6651	SON	ORPHA:500150
HP:0000577	Exotropia	546	ATRX	OMIM:309580
HP:0000577	Exotropia	57479	PRR12	OMIM:619539
HP:0000577	Exotropia	83938	LRMDA	OMIM:615179
HP:0000577	Exotropia	11152	WDR45	OMIM:615179
HP:0000577	Exotropia	4088	SMAD3	OMIM:613795
HP:0000577	Exotropia	4948	OCA2	OMIM:203200
HP:0000577	Exotropia	4157	MC1R	OMIM:203200
HP:0000577	Exotropia	7048	TGFBR2	OMIM:610168
HP:0000577	Exotropia	79583	TMEM231	ORPHA:2752
HP:0000577	Exotropia	64802	NMNAT1	OMIM:619260
HP:0000577	Exotropia	3030	HADHA	ORPHA:5
HP:0000577	Exotropia	120	ADD3	OMIM:617008
HP:0000577	Exotropia	7046	TGFBR1	OMIM:609192
HP:0000577	Exotropia	7490	WT1	OMIM:106210
HP:0000577	Exotropia	5080	PAX6	OMIM:106210
HP:0000577	Exotropia	23291	FBXW11	OMIM:618914
HP:0000577	Exotropia	8367	H4C5	OMIM:619950
HP:0000577	Exotropia	2590	GALNT2	OMIM:618885
HP:0000577	Exotropia	224	ALDH3A2	OMIM:270200
HP:0000577	Exotropia	55605	KIF21A	OMIM:135700
HP:0000577	Exotropia	4841	NONO	ORPHA:466791
HP:0008034	Abnormal iris pigmentation	51132	RLIM	OMIM:300978
HP:0008034	Abnormal iris pigmentation	8924	HERC2	OMIM:615516
HP:0008034	Abnormal iris pigmentation	6804	STX1A	ORPHA:904
HP:0008034	Abnormal iris pigmentation	7461	CLIP2	ORPHA:904
HP:0008034	Abnormal iris pigmentation	84277	DNAJC30	ORPHA:904
HP:0008034	Abnormal iris pigmentation	8468	FKBP6	ORPHA:904
HP:0008034	Abnormal iris pigmentation	5982	RFC2	ORPHA:904
HP:0008034	Abnormal iris pigmentation	2969	GTF2I	ORPHA:904
HP:0008034	Abnormal iris pigmentation	3984	LIMK1	ORPHA:904
HP:0008034	Abnormal iris pigmentation	9569	GTF2IRD1	ORPHA:904
HP:0008034	Abnormal iris pigmentation	155382	VPS37D	ORPHA:904
HP:0008034	Abnormal iris pigmentation	155368	METTL27	ORPHA:904
HP:0008034	Abnormal iris pigmentation	114049	BUD23	ORPHA:904
HP:0008034	Abnormal iris pigmentation	7458	EIF4H	ORPHA:904
HP:0008034	Abnormal iris pigmentation	84163	GTF2IRD2	ORPHA:904
HP:0008034	Abnormal iris pigmentation	9275	BCL7B	ORPHA:904
HP:0008034	Abnormal iris pigmentation	26608	TBL2	ORPHA:904
HP:0008034	Abnormal iris pigmentation	653361	NCF1	ORPHA:904
HP:0008034	Abnormal iris pigmentation	135886	TMEM270	ORPHA:904
HP:0008034	Abnormal iris pigmentation	51085	MLXIPL	ORPHA:904
HP:0008034	Abnormal iris pigmentation	51085	MLXIPL	OMIM:194050
HP:0008034	Abnormal iris pigmentation	9031	BAZ1B	ORPHA:904
HP:0008034	Abnormal iris pigmentation	2006	ELN	ORPHA:904
HP:0008034	Abnormal iris pigmentation	2006	ELN	OMIM:194050
HP:0008034	Abnormal iris pigmentation	51151	SLC45A2	OMIM:606574
HP:0008034	Abnormal iris pigmentation	6638	SNRPN	OMIM:105830
HP:0008034	Abnormal iris pigmentation	7337	UBE3A	OMIM:105830
HP:0008034	Abnormal iris pigmentation	8626	TP63	OMIM:604292
HP:0008034	Abnormal iris pigmentation	5573	PRKAR1A	ORPHA:280651
HP:0008034	Abnormal iris pigmentation	5573	PRKAR1A	OMIM:101800
HP:0008034	Abnormal iris pigmentation	5144	PDE4D	ORPHA:280651
HP:0008034	Abnormal iris pigmentation	5144	PDE4D	OMIM:614613
HP:0008034	Abnormal iris pigmentation	5594	MAPK1	OMIM:619087
HP:0008034	Abnormal iris pigmentation	5053	PAH	OMIM:261600
HP:0008034	Abnormal iris pigmentation	6654	SOS1	OMIM:610733
HP:0008034	Abnormal iris pigmentation	7306	TYRP1	ORPHA:79433
HP:0008034	Abnormal iris pigmentation	57479	PRR12	OMIM:619539
HP:0008034	Abnormal iris pigmentation	5828	PEX2	OMIM:614866
HP:0008034	Abnormal iris pigmentation	5828	PEX2	ORPHA:912
HP:0008034	Abnormal iris pigmentation	55670	PEX26	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5824	PEX19	ORPHA:912
HP:0008034	Abnormal iris pigmentation	8504	PEX3	ORPHA:912
HP:0008034	Abnormal iris pigmentation	8799	PEX11B	ORPHA:912
HP:0008034	Abnormal iris pigmentation	9409	PEX16	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5190	PEX6	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5830	PEX5	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5830	PEX5	OMIM:214110
HP:0008034	Abnormal iris pigmentation	5189	PEX1	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5189	PEX1	OMIM:214100
HP:0008034	Abnormal iris pigmentation	5193	PEX12	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5194	PEX13	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5195	PEX14	ORPHA:912
HP:0008034	Abnormal iris pigmentation	5192	PEX10	ORPHA:912
HP:0008034	Abnormal iris pigmentation	2623	GATA1	OMIM:190685
HP:0008034	Abnormal iris pigmentation	3265	HRAS	ORPHA:79414
HP:0008034	Abnormal iris pigmentation	4286	MITF	ORPHA:895
HP:0008034	Abnormal iris pigmentation	4286	MITF	OMIM:193510
HP:0008034	Abnormal iris pigmentation	4286	MITF	OMIM:103500
HP:0008034	Abnormal iris pigmentation	7299	TYR	ORPHA:895
HP:0008034	Abnormal iris pigmentation	6591	SNAI2	ORPHA:895
HP:0008034	Abnormal iris pigmentation	6591	SNAI2	ORPHA:2884
HP:0008034	Abnormal iris pigmentation	1910	EDNRB	ORPHA:895
HP:0008034	Abnormal iris pigmentation	1910	EDNRB	OMIM:277580
HP:0008034	Abnormal iris pigmentation	4254	KITLG	ORPHA:895
HP:0008034	Abnormal iris pigmentation	4254	KITLG	OMIM:619947
HP:0008034	Abnormal iris pigmentation	6663	SOX10	ORPHA:895
HP:0008034	Abnormal iris pigmentation	6663	SOX10	ORPHA:163746
HP:0008034	Abnormal iris pigmentation	6663	SOX10	OMIM:613266
HP:0008034	Abnormal iris pigmentation	6663	SOX10	OMIM:611584
HP:0008034	Abnormal iris pigmentation	6663	SOX10	OMIM:609136
HP:0008034	Abnormal iris pigmentation	5077	PAX3	ORPHA:894
HP:0008034	Abnormal iris pigmentation	5077	PAX3	OMIM:193500
HP:0008034	Abnormal iris pigmentation	5077	PAX3	OMIM:148820
HP:0008034	Abnormal iris pigmentation	80153	EDC3	OMIM:616460
HP:0008034	Abnormal iris pigmentation	3815	KIT	OMIM:172800
HP:0008034	Abnormal iris pigmentation	3815	KIT	ORPHA:2884
HP:0008034	Abnormal iris pigmentation	8518	ELP1	ORPHA:1764
HP:0008034	Abnormal iris pigmentation	71	ACTG1	ORPHA:2995
HP:0008034	Abnormal iris pigmentation	60	ACTB	ORPHA:2995
HP:0008034	Abnormal iris pigmentation	2776	GNAQ	ORPHA:3205
HP:0008034	Abnormal iris pigmentation	1908	EDN3	OMIM:613265
HP:0008034	Abnormal iris pigmentation	5728	PTEN	ORPHA:2969
HP:0008034	Abnormal iris pigmentation	4157	MC1R	ORPHA:79432
HP:0008034	Abnormal iris pigmentation	4948	OCA2	ORPHA:79432
HP:0008034	Abnormal iris pigmentation	57724	EPG5	OMIM:242840
HP:0008034	Abnormal iris pigmentation	8943	AP3D1	OMIM:617050
HP:0008034	Abnormal iris pigmentation	8943	AP3D1	ORPHA:1000
HP:0008034	Abnormal iris pigmentation	8943	AP3D1	ORPHA:54
HP:0008034	Abnormal iris pigmentation	3257	HPS1	OMIM:203300
HP:0008034	Abnormal iris pigmentation	5590	PRKCZ	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	2563	GABRD	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	23013	SPEN	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	8510	MMP23B	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	7798	LUZP1	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	6497	SKI	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	10630	PDPN	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	3339	HSPG2	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	10277	UBE4B	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	8514	KCNAB2	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	473	RERE	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	63976	PRDM16	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	54897	CASZ1	ORPHA:1606
HP:0008034	Abnormal iris pigmentation	8546	AP3B1	OMIM:608233
HP:0008034	Abnormal iris pigmentation	1130	LYST	ORPHA:352723
HP:0008034	Abnormal iris pigmentation	1130	LYST	OMIM:214500
HP:0008034	Abnormal iris pigmentation	4935	GPR143	ORPHA:54
HP:0008034	Abnormal iris pigmentation	4935	GPR143	OMIM:300500
HP:0008034	Abnormal iris pigmentation	89781	HPS4	OMIM:614073
HP:0008034	Abnormal iris pigmentation	26258	BLOC1S6	OMIM:614171
HP:0008034	Abnormal iris pigmentation	79803	HPS6	OMIM:614075
HP:0008034	Abnormal iris pigmentation	84062	DTNBP1	OMIM:614076
HP:0008034	Abnormal iris pigmentation	7399	USH2A	ORPHA:231178
HP:0008034	Abnormal iris pigmentation	79955	PDZD7	ORPHA:231178
HP:0008034	Abnormal iris pigmentation	4647	MYO7A	ORPHA:231178
HP:0008034	Abnormal iris pigmentation	4647	MYO7A	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	25861	WHRN	ORPHA:231178
HP:0008034	Abnormal iris pigmentation	84059	ADGRV1	ORPHA:231178
HP:0008034	Abnormal iris pigmentation	7681	MKRN3	OMIM:176270
HP:0008034	Abnormal iris pigmentation	3653	IPW	OMIM:176270
HP:0008034	Abnormal iris pigmentation	54551	MAGEL2	OMIM:176270
HP:0008034	Abnormal iris pigmentation	54551	MAGEL2	ORPHA:98754
HP:0008034	Abnormal iris pigmentation	54551	MAGEL2	ORPHA:177904
HP:0008034	Abnormal iris pigmentation	54551	MAGEL2	ORPHA:177901
HP:0008034	Abnormal iris pigmentation	54551	MAGEL2	ORPHA:177910
HP:0008034	Abnormal iris pigmentation	791114	PWRN1	OMIM:176270
HP:0008034	Abnormal iris pigmentation	100033413	SNORD116-1	OMIM:176270
HP:0008034	Abnormal iris pigmentation	145624	PWAR1	OMIM:176270
HP:0008034	Abnormal iris pigmentation	23742	NPAP1	OMIM:176270
HP:0008034	Abnormal iris pigmentation	338433	SNORD115-1	OMIM:176270
HP:0008034	Abnormal iris pigmentation	7401	CLRN1	ORPHA:231183
HP:0008034	Abnormal iris pigmentation	22901	ARSG	ORPHA:231183
HP:0008034	Abnormal iris pigmentation	4575	MT-TS2	ORPHA:231183
HP:0008034	Abnormal iris pigmentation	3035	HARS1	ORPHA:231183
HP:0008034	Abnormal iris pigmentation	84131	CEP78	ORPHA:231183
HP:0008034	Abnormal iris pigmentation	4692	NDN	ORPHA:98754
HP:0008034	Abnormal iris pigmentation	4692	NDN	ORPHA:177904
HP:0008034	Abnormal iris pigmentation	4692	NDN	ORPHA:177901
HP:0008034	Abnormal iris pigmentation	4692	NDN	ORPHA:177910
HP:0008034	Abnormal iris pigmentation	5961	PRPH2	ORPHA:99000
HP:0008034	Abnormal iris pigmentation	7439	BEST1	ORPHA:99000
HP:0008034	Abnormal iris pigmentation	50939	IMPG2	ORPHA:99000
HP:0008034	Abnormal iris pigmentation	3617	IMPG1	ORPHA:99000
HP:0008034	Abnormal iris pigmentation	5308	PITX2	OMIM:137600
HP:0008034	Abnormal iris pigmentation	284058	KANSL1	OMIM:610443
HP:0008034	Abnormal iris pigmentation	64072	CDH23	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	10083	USH1C	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	124590	USH1G	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	83715	ESPN	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	10518	CIB2	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	65217	PCDH15	ORPHA:231169
HP:0008034	Abnormal iris pigmentation	64132	XYLT2	ORPHA:85194
HP:0008034	Abnormal iris pigmentation	57194	ATP10A	ORPHA:411515
HP:0008034	Abnormal iris pigmentation	4644	MYO5A	ORPHA:79476
HP:0008034	Abnormal iris pigmentation	4644	MYO5A	ORPHA:79478
HP:0008034	Abnormal iris pigmentation	5873	RAB27A	ORPHA:79477
HP:0008034	Abnormal iris pigmentation	79083	MLPH	ORPHA:79478
HP:0008034	Abnormal iris pigmentation	57167	SALL4	ORPHA:233
HP:0008034	Abnormal iris pigmentation	9935	MAFB	ORPHA:233
HP:0008034	Abnormal iris pigmentation	1123	CHN1	ORPHA:233
HP:0008034	Abnormal iris pigmentation	10908	PNPLA6	OMIM:275400
HP:0008034	Abnormal iris pigmentation	207	AKT1	ORPHA:744
HP:0008034	Abnormal iris pigmentation	4629	MYH11	OMIM:132900
HP:0008034	Abnormal iris pigmentation	283652	SLC24A5	ORPHA:370097
HP:0008034	Abnormal iris pigmentation	4010	LMX1B	ORPHA:2614
HP:0008034	Abnormal iris pigmentation	4010	LMX1B	OMIM:161200
HP:0008034	Abnormal iris pigmentation	80781	COL18A1	OMIM:267750
HP:0008034	Abnormal iris pigmentation	63915	BLOC1S5	OMIM:619172
HP:0008034	Abnormal iris pigmentation	114902	C1QTNF5	ORPHA:67042
HP:0008034	Abnormal iris pigmentation	11234	HPS5	OMIM:614074
HP:0008034	Abnormal iris pigmentation	54507	ADAMTSL4	OMIM:225200
HP:0008034	Abnormal iris pigmentation	388552	BLOC1S3	OMIM:614077
HP:0008034	Abnormal iris pigmentation	1638	DCT	OMIM:619165
HP:0008034	Abnormal iris pigmentation	83938	LRMDA	OMIM:615179
HP:0008034	Abnormal iris pigmentation	11152	WDR45	OMIM:615179
HP:0008034	Abnormal iris pigmentation	27151	CPAMD8	OMIM:617319
HP:0008034	Abnormal iris pigmentation	91851	CHRDL1	OMIM:309300
HP:0008035	Retinitis pigmentosa inversa	24	ABCA4	OMIM:248200
HP:0000510	Rod-cone dystrophy	65217	PCDH15	OMIM:601067
HP:0000510	Rod-cone dystrophy	65217	PCDH15	OMIM:602083
HP:0000510	Rod-cone dystrophy	64072	CDH23	OMIM:601067
HP:0000510	Rod-cone dystrophy	64072	CDH23	OMIM:601386
HP:0000510	Rod-cone dystrophy	261734	NPHP4	OMIM:606996
HP:0000510	Rod-cone dystrophy	25970	SH2B1	ORPHA:261222
HP:0000510	Rod-cone dystrophy	91452	ACBD5	OMIM:618863
HP:0000510	Rod-cone dystrophy	5949	RBP3	OMIM:615233
HP:0000510	Rod-cone dystrophy	5949	RBP3	OMIM:268000
HP:0000510	Rod-cone dystrophy	583	BBS2	OMIM:616562
HP:0000510	Rod-cone dystrophy	583	BBS2	OMIM:615981
HP:0000510	Rod-cone dystrophy	4598	MVK	OMIM:260920
HP:0000510	Rod-cone dystrophy	2677	GGCX	ORPHA:436274
HP:0000510	Rod-cone dystrophy	6010	RHO	OMIM:613731
HP:0000510	Rod-cone dystrophy	755	CFAP410	OMIM:602271
HP:0000510	Rod-cone dystrophy	130557	ZNF513	OMIM:613617
HP:0000510	Rod-cone dystrophy	5961	PRPH2	OMIM:608133
HP:0000510	Rod-cone dystrophy	6094	ROM1	OMIM:608133
HP:0000510	Rod-cone dystrophy	6094	ROM1	OMIM:268000
HP:0000510	Rod-cone dystrophy	91147	TMEM67	OMIM:602152
HP:0000510	Rod-cone dystrophy	91147	TMEM67	ORPHA:140976
HP:0000510	Rod-cone dystrophy	91147	TMEM67	OMIM:615991
HP:0000510	Rod-cone dystrophy	23126	POGZ	ORPHA:468678
HP:0000510	Rod-cone dystrophy	23126	POGZ	OMIM:616364
HP:0000510	Rod-cone dystrophy	4535	MT-ND1	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4536	MT-ND2	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4537	MT-ND3	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4538	MT-ND4	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4567	MT-TL1	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4578	MT-TW	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4577	MT-TV	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	OMIM:551500
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	ORPHA:644
HP:0000510	Rod-cone dystrophy	4540	MT-ND5	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4541	MT-ND6	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4566	MT-TK	ORPHA:255210
HP:0000510	Rod-cone dystrophy	8842	PROM1	OMIM:612095
HP:0000510	Rod-cone dystrophy	6311	ATXN2	OMIM:183090
HP:0000510	Rod-cone dystrophy	24148	PRPF6	OMIM:613983
HP:0000510	Rod-cone dystrophy	92840	REEP6	OMIM:617304
HP:0000510	Rod-cone dystrophy	10461	MERTK	OMIM:613862
HP:0000510	Rod-cone dystrophy	79947	DHDDS	OMIM:613861
HP:0000510	Rod-cone dystrophy	9128	PRPF4	OMIM:615922
HP:0000510	Rod-cone dystrophy	57545	CC2D2A	OMIM:619845
HP:0000510	Rod-cone dystrophy	768206	PRCD	OMIM:610599
HP:0000510	Rod-cone dystrophy	84140	FAM161A	OMIM:606068
HP:0000510	Rod-cone dystrophy	23020	SNRNP200	OMIM:610359
HP:0000510	Rod-cone dystrophy	4646	MYO6	OMIM:607821
HP:0000510	Rod-cone dystrophy	7439	BEST1	OMIM:613194
HP:0000510	Rod-cone dystrophy	6103	RPGR	OMIM:300455
HP:0000510	Rod-cone dystrophy	6103	RPGR	ORPHA:244
HP:0000510	Rod-cone dystrophy	6103	RPGR	OMIM:300029
HP:0000510	Rod-cone dystrophy	79797	ZNF408	OMIM:616469
HP:0000510	Rod-cone dystrophy	4901	NRL	OMIM:613750
HP:0000510	Rod-cone dystrophy	1259	CNGA1	OMIM:613756
HP:0000510	Rod-cone dystrophy	1259	CNGA1	OMIM:268000
HP:0000510	Rod-cone dystrophy	51109	RDH11	OMIM:616108
HP:0000510	Rod-cone dystrophy	51109	RDH11	ORPHA:436245
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:209900
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:600151
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:613575
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:268000
HP:0000510	Rod-cone dystrophy	79140	CCDC28B	OMIM:209900
HP:0000510	Rod-cone dystrophy	582	BBS1	OMIM:209900
HP:0000510	Rod-cone dystrophy	6295	SAG	OMIM:613758
HP:0000510	Rod-cone dystrophy	6295	SAG	OMIM:620228
HP:0000510	Rod-cone dystrophy	6295	SAG	ORPHA:75382
HP:0000510	Rod-cone dystrophy	1509	CTSD	OMIM:610127
HP:0000510	Rod-cone dystrophy	6100	RP9	OMIM:180104
HP:0000510	Rod-cone dystrophy	3614	IMPDH1	OMIM:180105
HP:0000510	Rod-cone dystrophy	24	ABCA4	OMIM:601718
HP:0000510	Rod-cone dystrophy	26090	ABHD12	OMIM:612674
HP:0000510	Rod-cone dystrophy	10352	WARS2	ORPHA:572798
HP:0000510	Rod-cone dystrophy	10352	WARS2	OMIM:617710
HP:0000510	Rod-cone dystrophy	55012	PPP2R3C	OMIM:618419
HP:0000510	Rod-cone dystrophy	1201	CLN3	OMIM:204200
HP:0000510	Rod-cone dystrophy	1258	CNGB1	OMIM:613767
HP:0000510	Rod-cone dystrophy	5995	RGR	OMIM:613769
HP:0000510	Rod-cone dystrophy	5373	PMM2	OMIM:212065
HP:0000510	Rod-cone dystrophy	5373	PMM2	ORPHA:79318
HP:0000510	Rod-cone dystrophy	491	ATP2B2	OMIM:601386
HP:0000510	Rod-cone dystrophy	1798	DPAGT1	ORPHA:86309
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:614180
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:268000
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:276902
HP:0000510	Rod-cone dystrophy	10594	PRPF8	OMIM:600059
HP:0000510	Rod-cone dystrophy	25794	FSCN2	OMIM:607921
HP:0000510	Rod-cone dystrophy	4117	MAK	OMIM:614181
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:614500
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:268000
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:617406
HP:0000510	Rod-cone dystrophy	5190	PEX6	OMIM:614863
HP:0000510	Rod-cone dystrophy	5190	PEX6	ORPHA:772
HP:0000510	Rod-cone dystrophy	5828	PEX2	OMIM:614866
HP:0000510	Rod-cone dystrophy	5828	PEX2	OMIM:614867
HP:0000510	Rod-cone dystrophy	5828	PEX2	ORPHA:772
HP:0000510	Rod-cone dystrophy	3098	HK1	OMIM:618547
HP:0000510	Rod-cone dystrophy	4191	MDH2	OMIM:617339
HP:0000510	Rod-cone dystrophy	6134	RPL10	ORPHA:459070
HP:0000510	Rod-cone dystrophy	6134	RPL10	OMIM:300998
HP:0000510	Rod-cone dystrophy	10518	CIB2	OMIM:614869
HP:0000510	Rod-cone dystrophy	6101	RP1	OMIM:180100
HP:0000510	Rod-cone dystrophy	124590	USH1G	OMIM:606943
HP:0000510	Rod-cone dystrophy	402	ARL2	OMIM:619082
HP:0000510	Rod-cone dystrophy	92211	CDHR1	OMIM:613660
HP:0000510	Rod-cone dystrophy	3420	IDH3B	OMIM:612572
HP:0000510	Rod-cone dystrophy	57709	SLC7A14	OMIM:615725
HP:0000510	Rod-cone dystrophy	388939	PCARE	OMIM:613428
HP:0000510	Rod-cone dystrophy	5191	PEX7	OMIM:614879
HP:0000510	Rod-cone dystrophy	5191	PEX7	OMIM:266500
HP:0000510	Rod-cone dystrophy	80025	PANK2	OMIM:607236
HP:0000510	Rod-cone dystrophy	80025	PANK2	ORPHA:216866
HP:0000510	Rod-cone dystrophy	7355	SLC35A2	OMIM:300896
HP:0000510	Rod-cone dystrophy	9319	TRIP13	OMIM:617598
HP:0000510	Rod-cone dystrophy	50484	RRM2B	OMIM:268315
HP:0000510	Rod-cone dystrophy	64218	SEMA4A	OMIM:610282
HP:0000510	Rod-cone dystrophy	64218	SEMA4A	OMIM:610283
HP:0000510	Rod-cone dystrophy	7867	MAPKAPK3	OMIM:617111
HP:0000510	Rod-cone dystrophy	6121	RPE65	OMIM:613794
HP:0000510	Rod-cone dystrophy	10002	NR2E3	OMIM:611131
HP:0000510	Rod-cone dystrophy	2625	GATA3	ORPHA:2237
HP:0000510	Rod-cone dystrophy	2779	GNAT1	OMIM:616389
HP:0000510	Rod-cone dystrophy	80173	IFT74	OMIM:617119
HP:0000510	Rod-cone dystrophy	29929	ALG6	ORPHA:79320
HP:0000510	Rod-cone dystrophy	3166	HMX1	OMIM:612109
HP:0000510	Rod-cone dystrophy	25981	DNAH1	ORPHA:244
HP:0000510	Rod-cone dystrophy	115948	ODAD3	ORPHA:244
HP:0000510	Rod-cone dystrophy	54768	HYDIN	ORPHA:244
HP:0000510	Rod-cone dystrophy	352909	DNAAF3	ORPHA:244
HP:0000510	Rod-cone dystrophy	27148	STK36	ORPHA:244
HP:0000510	Rod-cone dystrophy	51314	NME8	ORPHA:244
HP:0000510	Rod-cone dystrophy	92749	DRC1	ORPHA:244
HP:0000510	Rod-cone dystrophy	54970	TTC12	ORPHA:244
HP:0000510	Rod-cone dystrophy	152110	NEK10	ORPHA:244
HP:0000510	Rod-cone dystrophy	8481	OFD1	ORPHA:244
HP:0000510	Rod-cone dystrophy	8481	OFD1	OMIM:300424
HP:0000510	Rod-cone dystrophy	8481	OFD1	OMIM:300804
HP:0000510	Rod-cone dystrophy	2302	FOXJ1	ORPHA:244
HP:0000510	Rod-cone dystrophy	221421	RSPH9	ORPHA:244
HP:0000510	Rod-cone dystrophy	85478	CCDC65	ORPHA:244
HP:0000510	Rod-cone dystrophy	55036	CCDC40	ORPHA:244
HP:0000510	Rod-cone dystrophy	51364	ZMYND10	ORPHA:244
HP:0000510	Rod-cone dystrophy	64446	DNAI2	ORPHA:244
HP:0000510	Rod-cone dystrophy	6674	SPAG1	ORPHA:244
HP:0000510	Rod-cone dystrophy	83544	DNAL1	ORPHA:244
HP:0000510	Rod-cone dystrophy	89765	RSPH1	ORPHA:244
HP:0000510	Rod-cone dystrophy	83538	ODAD4	ORPHA:244
HP:0000510	Rod-cone dystrophy	200373	CFAP221	ORPHA:244
HP:0000510	Rod-cone dystrophy	374407	DNAJB13	ORPHA:244
HP:0000510	Rod-cone dystrophy	55172	DNAAF2	ORPHA:244
HP:0000510	Rod-cone dystrophy	161582	DNAAF4	ORPHA:244
HP:0000510	Rod-cone dystrophy	2622	GAS8	ORPHA:244
HP:0000510	Rod-cone dystrophy	23639	DNAAF11	ORPHA:244
HP:0000510	Rod-cone dystrophy	27019	DNAI1	ORPHA:244
HP:0000510	Rod-cone dystrophy	345895	RSPH4A	ORPHA:244
HP:0000510	Rod-cone dystrophy	54919	DNAAF5	ORPHA:244
HP:0000510	Rod-cone dystrophy	388389	CCDC103	ORPHA:244
HP:0000510	Rod-cone dystrophy	93233	ODAD1	ORPHA:244
HP:0000510	Rod-cone dystrophy	55130	ODAD2	ORPHA:244
HP:0000510	Rod-cone dystrophy	1767	DNAH5	ORPHA:244
HP:0000510	Rod-cone dystrophy	83861	RSPH3	ORPHA:244
HP:0000510	Rod-cone dystrophy	345643	MCIDAS	ORPHA:244
HP:0000510	Rod-cone dystrophy	56683	CFAP298	ORPHA:244
HP:0000510	Rod-cone dystrophy	79925	SPEF2	ORPHA:244
HP:0000510	Rod-cone dystrophy	10309	CCNO	ORPHA:244
HP:0000510	Rod-cone dystrophy	115399	LRRC56	ORPHA:244
HP:0000510	Rod-cone dystrophy	139212	DNAAF6	ORPHA:244
HP:0000510	Rod-cone dystrophy	123872	DNAAF1	ORPHA:244
HP:0000510	Rod-cone dystrophy	85016	CFAP300	ORPHA:244
HP:0000510	Rod-cone dystrophy	339829	CCDC39	ORPHA:244
HP:0000510	Rod-cone dystrophy	8701	DNAH11	ORPHA:244
HP:0000510	Rod-cone dystrophy	1770	DNAH9	ORPHA:244
HP:0000510	Rod-cone dystrophy	246176	GAS2L2	ORPHA:244
HP:0000510	Rod-cone dystrophy	3329	HSPD1	ORPHA:100994
HP:0000510	Rod-cone dystrophy	3798	KIF5A	ORPHA:100991
HP:0000510	Rod-cone dystrophy	26160	IFT172	OMIM:616394
HP:0000510	Rod-cone dystrophy	26160	IFT172	OMIM:619471
HP:0000510	Rod-cone dystrophy	9742	IFT140	OMIM:266920
HP:0000510	Rod-cone dystrophy	25861	WHRN	OMIM:611383
HP:0000510	Rod-cone dystrophy	55212	BBS7	OMIM:615984
HP:0000510	Rod-cone dystrophy	123016	TTC8	OMIM:615985
HP:0000510	Rod-cone dystrophy	123016	TTC8	OMIM:613464
HP:0000510	Rod-cone dystrophy	585	BBS4	OMIM:615982
HP:0000510	Rod-cone dystrophy	129880	BBS5	OMIM:615983
HP:0000510	Rod-cone dystrophy	166379	BBS12	OMIM:615989
HP:0000510	Rod-cone dystrophy	27241	BBS9	OMIM:615986
HP:0000510	Rod-cone dystrophy	79738	BBS10	OMIM:615987
HP:0000510	Rod-cone dystrophy	7287	TULP1	OMIM:600132
HP:0000510	Rod-cone dystrophy	26121	PRPF31	OMIM:600138
HP:0000510	Rod-cone dystrophy	196	AHR	OMIM:618345
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:615991
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:610188
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:610189
HP:0000510	Rod-cone dystrophy	9785	DHX38	OMIM:618220
HP:0000510	Rod-cone dystrophy	54903	MKS1	OMIM:615990
HP:0000510	Rod-cone dystrophy	5193	PEX12	OMIM:266510
HP:0000510	Rod-cone dystrophy	5193	PEX12	ORPHA:772
HP:0000510	Rod-cone dystrophy	92482	BBIP1	OMIM:615995
HP:0000510	Rod-cone dystrophy	89891	DYNC2I2	OMIM:615633
HP:0000510	Rod-cone dystrophy	11020	IFT27	OMIM:615996
HP:0000510	Rod-cone dystrophy	10806	SDCCAG8	OMIM:615993
HP:0000510	Rod-cone dystrophy	54585	LZTFL1	OMIM:615994
HP:0000510	Rod-cone dystrophy	23600	AMACR	OMIM:614307
HP:0000510	Rod-cone dystrophy	9227	LRAT	OMIM:268000
HP:0000510	Rod-cone dystrophy	9227	LRAT	OMIM:613341
HP:0000510	Rod-cone dystrophy	5148	PDE6G	OMIM:268000
HP:0000510	Rod-cone dystrophy	5148	PDE6G	OMIM:613582
HP:0000510	Rod-cone dystrophy	23746	AIPL1	OMIM:268000
HP:0000510	Rod-cone dystrophy	1406	CRX	OMIM:268000
HP:0000510	Rod-cone dystrophy	6017	RLBP1	ORPHA:85128
HP:0000510	Rod-cone dystrophy	5264	PHYH	OMIM:266500
HP:0000510	Rod-cone dystrophy	50939	IMPG2	OMIM:613581
HP:0000510	Rod-cone dystrophy	60509	AGBL5	OMIM:617023
HP:0000510	Rod-cone dystrophy	443	ASPA	ORPHA:314918
HP:0000510	Rod-cone dystrophy	346007	EYS	OMIM:602772
HP:0000510	Rod-cone dystrophy	4694	NDUFA1	OMIM:301020
HP:0000510	Rod-cone dystrophy	27235	COQ2	OMIM:607426
HP:0000510	Rod-cone dystrophy	28982	FLVCR1	ORPHA:88628
HP:0000510	Rod-cone dystrophy	28982	FLVCR1	OMIM:609033
HP:0000510	Rod-cone dystrophy	4704	NDUFA9	OMIM:618247
HP:0000510	Rod-cone dystrophy	5631	PRPS1	OMIM:311070
HP:0000510	Rod-cone dystrophy	8120	AP3B2	OMIM:617276
HP:0000510	Rod-cone dystrophy	55975	KLHL7	OMIM:612943
HP:0000510	Rod-cone dystrophy	55975	KLHL7	OMIM:617055
HP:0000510	Rod-cone dystrophy	26146	TRAF3IP1	OMIM:616629
HP:0000510	Rod-cone dystrophy	2232	FDXR	OMIM:617717
HP:0000510	Rod-cone dystrophy	6102	RP2	OMIM:312600
HP:0000510	Rod-cone dystrophy	4647	MYO7A	OMIM:276900
HP:0000510	Rod-cone dystrophy	10083	USH1C	OMIM:276900
HP:0000510	Rod-cone dystrophy	10083	USH1C	OMIM:276904
HP:0000510	Rod-cone dystrophy	4547	MTTP	ORPHA:14
HP:0000510	Rod-cone dystrophy	7399	USH2A	OMIM:276901
HP:0000510	Rod-cone dystrophy	7399	USH2A	OMIM:613809
HP:0000510	Rod-cone dystrophy	79955	PDZD7	OMIM:276901
HP:0000510	Rod-cone dystrophy	79955	PDZD7	OMIM:605472
HP:0000510	Rod-cone dystrophy	23418	CRB1	OMIM:600105
HP:0000510	Rod-cone dystrophy	55857	KIZ	OMIM:615780
HP:0000510	Rod-cone dystrophy	149461	CLDN19	OMIM:248190
HP:0000510	Rod-cone dystrophy	8195	MKKS	OMIM:605231
HP:0000510	Rod-cone dystrophy	5158	PDE6B	OMIM:613801
HP:0000510	Rod-cone dystrophy	3028	HSD17B10	ORPHA:391428
HP:0000510	Rod-cone dystrophy	84059	ADGRV1	OMIM:605472
HP:0000510	Rod-cone dystrophy	51095	TRNT1	OMIM:616084
HP:0000510	Rod-cone dystrophy	23568	ARL2BP	OMIM:615434
HP:0000510	Rod-cone dystrophy	9894	TELO2	ORPHA:488642
HP:0000510	Rod-cone dystrophy	338	APOB	OMIM:615558
HP:0000510	Rod-cone dystrophy	5145	PDE6A	OMIM:613810
HP:0000510	Rod-cone dystrophy	10283	CWC27	OMIM:250410
HP:0000510	Rod-cone dystrophy	10283	CWC27	ORPHA:166035
HP:0000510	Rod-cone dystrophy	6011	GRK1	ORPHA:75382
HP:0000510	Rod-cone dystrophy	9129	PRPF3	OMIM:601414
HP:0000510	Rod-cone dystrophy	5189	PEX1	OMIM:601539
HP:0000510	Rod-cone dystrophy	5189	PEX1	ORPHA:772
HP:0000510	Rod-cone dystrophy	4751	NEK2	OMIM:615565
HP:0000510	Rod-cone dystrophy	9371	KIF3B	OMIM:618955
HP:0000510	Rod-cone dystrophy	617	BCS1L	OMIM:124000
HP:0000510	Rod-cone dystrophy	2979	GUCA1B	OMIM:613827
HP:0000510	Rod-cone dystrophy	9657	IQCB1	OMIM:609254
HP:0000510	Rod-cone dystrophy	55670	PEX26	ORPHA:772
HP:0000510	Rod-cone dystrophy	5824	PEX19	ORPHA:772
HP:0000510	Rod-cone dystrophy	8504	PEX3	ORPHA:772
HP:0000510	Rod-cone dystrophy	9409	PEX16	ORPHA:772
HP:0000510	Rod-cone dystrophy	8799	PEX11B	ORPHA:772
HP:0000510	Rod-cone dystrophy	5830	PEX5	ORPHA:772
HP:0000510	Rod-cone dystrophy	5194	PEX13	ORPHA:772
HP:0000510	Rod-cone dystrophy	5195	PEX14	ORPHA:772
HP:0000510	Rod-cone dystrophy	5192	PEX10	ORPHA:772
HP:0000510	Rod-cone dystrophy	51	ACOX1	OMIM:264470
HP:0000510	Rod-cone dystrophy	403	ARL3	OMIM:618161
HP:0000510	Rod-cone dystrophy	403	ARL3	OMIM:618173
HP:0000510	Rod-cone dystrophy	10210	TOPORS	OMIM:609923
HP:0000510	Rod-cone dystrophy	138050	HGSNAT	OMIM:616544
HP:0000510	Rod-cone dystrophy	138050	HGSNAT	OMIM:252930
HP:0000510	Rod-cone dystrophy	57728	WDR19	OMIM:616307
HP:0000510	Rod-cone dystrophy	57728	WDR19	OMIM:614378
HP:0000510	Rod-cone dystrophy	253827	MSRB3	OMIM:613718
HP:0000510	Rod-cone dystrophy	79644	SRD5A3	ORPHA:324737
HP:0000510	Rod-cone dystrophy	23404	EXOSC2	OMIM:617763
HP:0000510	Rod-cone dystrophy	375298	CERKL	OMIM:608380
HP:0008037	Absent anterior chamber of the eye	4041	LRP5	OMIM:259770
HP:0008038	Aplastic/hypoplastic lacrimal glands	2261	FGFR3	ORPHA:2363
HP:0008038	Aplastic/hypoplastic lacrimal glands	6663	SOX10	OMIM:613266
HP:0008038	Aplastic/hypoplastic lacrimal glands	2263	FGFR2	OMIM:149730
HP:0008038	Aplastic/hypoplastic lacrimal glands	668	FOXL2	ORPHA:572333
HP:0008038	Aplastic/hypoplastic lacrimal glands	2255	FGF10	OMIM:180920
HP:0008038	Aplastic/hypoplastic lacrimal glands	10804	GJB6	ORPHA:477
HP:0008038	Aplastic/hypoplastic lacrimal glands	2706	GJB2	ORPHA:477
HP:0008038	Aplastic/hypoplastic lacrimal glands	29957	SLC25A24	OMIM:612289
HP:0008039	Subepithelial corneal opacities	7045	TGFBI	ORPHA:98960
HP:0008039	Subepithelial corneal opacities	7045	TGFBI	ORPHA:98962
HP:0008039	Subepithelial corneal opacities	7045	TGFBI	ORPHA:98963
HP:0008039	Subepithelial corneal opacities	7045	TGFBI	ORPHA:98964
HP:0008039	Subepithelial corneal opacities	1308	COL17A1	ORPHA:293381
HP:0011090	Fused teeth	54880	BCOR	ORPHA:2712
HP:0011090	Fused teeth	54880	BCOR	OMIM:300166
HP:0011090	Fused teeth	9968	MED12	ORPHA:93932
HP:0011090	Fused teeth	57539	WDR35	OMIM:614091
HP:0011090	Fused teeth	57539	WDR35	OMIM:613610
HP:0011090	Fused teeth	7355	SLC35A2	OMIM:300896
HP:0011092	Mulberry molar	4810	NHS	OMIM:302350
HP:0011094	Increased overbite	2887	GRB10	ORPHA:96182
HP:0011094	Increased overbite	23111	SPART	ORPHA:101000
HP:0011094	Increased overbite	57589	RIC1	OMIM:618761
HP:0011094	Increased overbite	93650	ACP4	OMIM:617297
HP:0011094	Increased overbite	101929726	MYMX	OMIM:619941
HP:0011094	Increased overbite	2138	EYA1	OMIM:113650
HP:0011094	Increased overbite	6495	SIX1	OMIM:113650
HP:0011094	Increased overbite	2033	EP300	OMIM:613684
HP:0011094	Increased overbite	57479	PRR12	OMIM:619539
HP:0011094	Increased overbite	3097	HIVEP2	OMIM:616977
HP:0011094	Increased overbite	91801	ALKBH8	OMIM:618504
HP:0011095	Overjet	54517	PUS7	OMIM:618342
HP:0011097	Epileptic spasm	1798	DPAGT1	ORPHA:86309
HP:0011097	Epileptic spasm	443	ASPA	OMIM:271900
HP:0011097	Epileptic spasm	6812	STXBP1	OMIM:612164
HP:0011097	Epileptic spasm	343450	KCNT2	OMIM:617771
HP:0011097	Epileptic spasm	10815	CPLX1	OMIM:617976
HP:0011097	Epileptic spasm	3747	KCNC2	OMIM:619913
HP:0011097	Epileptic spasm	7249	TSC2	OMIM:613254
HP:0011097	Epileptic spasm	7249	TSC2	ORPHA:805
HP:0011097	Epileptic spasm	3458	IFNG	OMIM:613254
HP:0011097	Epileptic spasm	3458	IFNG	ORPHA:805
HP:0011097	Epileptic spasm	92609	TIMM50	OMIM:617698
HP:0011097	Epileptic spasm	116115	ZNF526	OMIM:619877
HP:0011097	Epileptic spasm	6323	SCN1A	OMIM:619317
HP:0011097	Epileptic spasm	6323	SCN1A	ORPHA:1942
HP:0011097	Epileptic spasm	538	ATP7A	OMIM:309400
HP:0011097	Epileptic spasm	4191	MDH2	OMIM:617339
HP:0011097	Epileptic spasm	79813	EHMT1	ORPHA:96147
HP:0011097	Epileptic spasm	1917	EEF1A2	OMIM:616409
HP:0011097	Epileptic spasm	8496	PPFIBP1	OMIM:620024
HP:0011097	Epileptic spasm	6595	SMARCA2	ORPHA:3051
HP:0011097	Epileptic spasm	51112	TRAPPC12	ORPHA:500144
HP:0011097	Epileptic spasm	51112	TRAPPC12	OMIM:617669
HP:0011097	Epileptic spasm	2571	GAD1	OMIM:619124
HP:0011097	Epileptic spasm	8867	SYNJ1	OMIM:617389
HP:0011097	Epileptic spasm	10659	CELF2	OMIM:619561
HP:0011097	Epileptic spasm	7358	UGDH	OMIM:618792
HP:0011097	Epileptic spasm	56947	MFF	ORPHA:485421
HP:0011097	Epileptic spasm	56947	MFF	OMIM:617086
HP:0011097	Epileptic spasm	2904	GRIN2B	OMIM:616139
HP:0011097	Epileptic spasm	6487	ST3GAL3	OMIM:615006
HP:0011097	Epileptic spasm	478	ATP1A3	OMIM:619606
HP:0011097	Epileptic spasm	6506	SLC1A2	OMIM:617105
HP:0011097	Epileptic spasm	6334	SCN8A	OMIM:614558
HP:0011097	Epileptic spasm	7248	TSC1	OMIM:191100
HP:0011097	Epileptic spasm	7248	TSC1	ORPHA:805
HP:0011097	Epileptic spasm	5290	PIK3CA	ORPHA:99802
HP:0011097	Epileptic spasm	2475	MTOR	ORPHA:99802
HP:0011097	Epileptic spasm	10000	AKT3	ORPHA:99802
HP:0011097	Epileptic spasm	2556	GABRA3	OMIM:301091
HP:0011097	Epileptic spasm	6904	TBCD	OMIM:617193
HP:0011097	Epileptic spasm	535	ATP6V0A1	OMIM:619971
HP:0011097	Epileptic spasm	535	ATP6V0A1	OMIM:619970
HP:0011097	Epileptic spasm	7355	SLC35A2	OMIM:300896
HP:0011097	Epileptic spasm	23154	NCDN	OMIM:619373
HP:0011097	Epileptic spasm	85365	ALG2	OMIM:607906
HP:0011097	Epileptic spasm	5530	PPP3CA	OMIM:617711
HP:0011097	Epileptic spasm	1759	DNM1	OMIM:616346
HP:0011097	Epileptic spasm	100151683	RNU4ATAC	ORPHA:2636
HP:0011097	Epileptic spasm	3785	KCNQ2	ORPHA:439218
HP:0011097	Epileptic spasm	79718	TBL1XR1	OMIM:616944
HP:0011097	Epileptic spasm	6513	SLC2A1	ORPHA:1942
HP:0011097	Epileptic spasm	8831	SYNGAP1	ORPHA:1942
HP:0011097	Epileptic spasm	1173	AP2M1	ORPHA:1942
HP:0011097	Epileptic spasm	340533	NEXMIF	ORPHA:1942
HP:0011097	Epileptic spasm	1106	CHD2	ORPHA:1942
HP:0011097	Epileptic spasm	6529	SLC6A1	ORPHA:1942
HP:0011097	Epileptic spasm	501	ALDH7A1	ORPHA:3006
HP:0011097	Epileptic spasm	11212	PLPBP	ORPHA:3006
HP:0011097	Epileptic spasm	2898	GRIK2	OMIM:619580
HP:0011097	Epileptic spasm	29968	PSAT1	ORPHA:284417
HP:0011097	Epileptic spasm	1327	COX4I1	OMIM:619060
HP:0011097	Epileptic spasm	774	CACNA1B	OMIM:618497
HP:0011097	Epileptic spasm	4905	NSF	OMIM:619340
HP:0011097	Epileptic spasm	2902	GRIN1	OMIM:614254
HP:0011097	Epileptic spasm	2903	GRIN2A	ORPHA:289266
HP:0011097	Epileptic spasm	221692	PHACTR1	OMIM:618298
HP:0011097	Epileptic spasm	58497	PRUNE1	ORPHA:544469
HP:0011097	Epileptic spasm	23236	PLCB1	OMIM:613722
HP:0011097	Epileptic spasm	26227	PHGDH	ORPHA:79351
HP:0011097	Epileptic spasm	10695	CNPY3	OMIM:617929
HP:0011097	Epileptic spasm	26040	SETBP1	ORPHA:798
HP:0011097	Epileptic spasm	5813	PURA	ORPHA:314655
HP:0011097	Epileptic spasm	2639	GCDH	ORPHA:25
HP:0011097	Epileptic spasm	199857	ALG14	OMIM:619031
HP:0011097	Epileptic spasm	8243	SMC1A	OMIM:301044
HP:0011097	Epileptic spasm	8243	SMC1A	ORPHA:3095
HP:0011097	Epileptic spasm	79876	UBA5	OMIM:617132
HP:0011097	Epileptic spasm	10617	STAMBP	OMIM:614261
HP:0011097	Epileptic spasm	2775	GNAO1	OMIM:617493
HP:0011097	Epileptic spasm	2775	GNAO1	ORPHA:1934
HP:0011097	Epileptic spasm	9759	HDAC4	OMIM:619797
HP:0011097	Epileptic spasm	9853	RUSC2	OMIM:617773
HP:0011097	Epileptic spasm	92335	STRADA	ORPHA:500533
HP:0011097	Epileptic spasm	51807	TUBA8	ORPHA:250972
HP:0011097	Epileptic spasm	55325	UFSP2	OMIM:620028
HP:0011097	Epileptic spasm	22845	DOLK	ORPHA:91131
HP:0011097	Epileptic spasm	170302	ARX	OMIM:308350
HP:0011097	Epileptic spasm	170302	ARX	ORPHA:3451
HP:0011097	Epileptic spasm	170302	ARX	OMIM:309510
HP:0011097	Epileptic spasm	170302	ARX	ORPHA:1934
HP:0011097	Epileptic spasm	4535	MT-ND1	ORPHA:255210
HP:0011097	Epileptic spasm	4536	MT-ND2	ORPHA:255210
HP:0011097	Epileptic spasm	4537	MT-ND3	ORPHA:255210
HP:0011097	Epileptic spasm	4538	MT-ND4	ORPHA:255210
HP:0011097	Epileptic spasm	4567	MT-TL1	ORPHA:255210
HP:0011097	Epileptic spasm	4578	MT-TW	ORPHA:255210
HP:0011097	Epileptic spasm	4577	MT-TV	ORPHA:255210
HP:0011097	Epileptic spasm	4508	MT-ATP6	ORPHA:255210
HP:0011097	Epileptic spasm	4540	MT-ND5	ORPHA:255210
HP:0011097	Epileptic spasm	4541	MT-ND6	ORPHA:255210
HP:0011097	Epileptic spasm	4566	MT-TK	ORPHA:255210
HP:0011097	Epileptic spasm	51412	ACTL6B	OMIM:618470
HP:0011097	Epileptic spasm	6792	CDKL5	ORPHA:3095
HP:0011097	Epileptic spasm	6792	CDKL5	ORPHA:505652
HP:0011097	Epileptic spasm	6792	CDKL5	OMIM:300672
HP:0011097	Epileptic spasm	6792	CDKL5	ORPHA:3451
HP:0011097	Epileptic spasm	6792	CDKL5	ORPHA:1934
HP:0011097	Epileptic spasm	22854	NTNG1	ORPHA:3095
HP:0011097	Epileptic spasm	9568	GABBR2	ORPHA:3095
HP:0011097	Epileptic spasm	9568	GABBR2	OMIM:617904
HP:0011097	Epileptic spasm	4204	MECP2	ORPHA:3095
HP:0011097	Epileptic spasm	26275	HIBCH	ORPHA:88639
HP:0011097	Epileptic spasm	79868	ALG13	OMIM:300884
HP:0011097	Epileptic spasm	79868	ALG13	ORPHA:324422
HP:0011097	Epileptic spasm	51506	UFC1	OMIM:618076
HP:0011097	Epileptic spasm	23030	KDM4B	OMIM:619320
HP:0011097	Epileptic spasm	3745	KCNB1	OMIM:616056
HP:0011097	Epileptic spasm	2782	GNB1	OMIM:616973
HP:0011097	Epileptic spasm	7280	TUBB2A	OMIM:615763
HP:0011097	Epileptic spasm	10565	ARFGEF1	OMIM:619964
HP:0011097	Epileptic spasm	55768	NGLY1	ORPHA:404454
HP:0011097	Epileptic spasm	23097	CDK19	OMIM:618916
HP:0011097	Epileptic spasm	23499	MACF1	ORPHA:572013
HP:0011097	Epileptic spasm	23499	MACF1	OMIM:618325
HP:0011097	Epileptic spasm	387119	CEP85L	ORPHA:572013
HP:0011097	Epileptic spasm	2192	FBLN1	ORPHA:404451
HP:0011097	Epileptic spasm	427	ASAH1	ORPHA:333
HP:0011097	Epileptic spasm	347733	TUBB2B	ORPHA:467166
HP:0011097	Epileptic spasm	347733	TUBB2B	OMIM:610031
HP:0011097	Epileptic spasm	7846	TUBA1A	ORPHA:467166
HP:0011097	Epileptic spasm	7846	TUBA1A	ORPHA:171680
HP:0011097	Epileptic spasm	10381	TUBB3	ORPHA:467166
HP:0011097	Epileptic spasm	112939	NACC1	OMIM:617393
HP:0011097	Epileptic spasm	7283	TUBG1	OMIM:615412
HP:0011097	Epileptic spasm	79029	AFG2B	OMIM:619616
HP:0011097	Epileptic spasm	9326	ZNHIT3	ORPHA:2836
HP:0011097	Epileptic spasm	547	KIF1A	ORPHA:2836
HP:0011097	Epileptic spasm	3054	HCFC1	OMIM:309541
HP:0011097	Epileptic spasm	1183	CLCN4	ORPHA:485350
HP:0011097	Epileptic spasm	686	BTD	ORPHA:79241
HP:0011097	Epileptic spasm	9361	LONP1	ORPHA:79243
HP:0011097	Epileptic spasm	5160	PDHA1	ORPHA:79243
HP:0011097	Epileptic spasm	1000	CDH2	OMIM:618929
HP:0011097	Epileptic spasm	128989	TANGO2	ORPHA:480864
HP:0011097	Epileptic spasm	8131	NPRL3	ORPHA:98820
HP:0011097	Epileptic spasm	10641	NPRL2	ORPHA:98820
HP:0011097	Epileptic spasm	9681	DEPDC5	ORPHA:98820
HP:0011097	Epileptic spasm	25930	PTPN23	OMIM:618890
HP:0011097	Epileptic spasm	23327	NEDD4L	OMIM:617201
HP:0011097	Epileptic spasm	4761	NEUROD2	OMIM:618374
HP:0011097	Epileptic spasm	4761	NEUROD2	ORPHA:1934
HP:0011097	Epileptic spasm	84896	ATAD1	OMIM:618011
HP:0011097	Epileptic spasm	523	ATP6V1A	OMIM:618012
HP:0011097	Epileptic spasm	55780	ERMARD	OMIM:615544
HP:0011097	Epileptic spasm	56479	KCNQ5	OMIM:617601
HP:0011097	Epileptic spasm	1641	DCX	ORPHA:2148
HP:0011097	Epileptic spasm	284184	NDUFAF8	OMIM:618776
HP:0011097	Epileptic spasm	23312	DMXL2	OMIM:618663
HP:0011097	Epileptic spasm	23312	DMXL2	ORPHA:1934
HP:0011097	Epileptic spasm	6711	SPTBN1	OMIM:619475
HP:0011097	Epileptic spasm	8452	CUL3	OMIM:619239
HP:0011097	Epileptic spasm	490	ATP2B1	OMIM:619910
HP:0011097	Epileptic spasm	2073	ERCC5	OMIM:278780
HP:0011097	Epileptic spasm	3098	HK1	OMIM:618547
HP:0011097	Epileptic spasm	85440	DOCK7	ORPHA:411986
HP:0011097	Epileptic spasm	85440	DOCK7	OMIM:615859
HP:0011097	Epileptic spasm	9289	ADGRG1	ORPHA:98889
HP:0011097	Epileptic spasm	5297	PI4KA	ORPHA:98889
HP:0011097	Epileptic spasm	27286	SRPX2	ORPHA:98889
HP:0011097	Epileptic spasm	80036	TRPM3	OMIM:620224
HP:0011097	Epileptic spasm	4247	MGAT2	ORPHA:79329
HP:0011097	Epileptic spasm	728294	D2HGDH	OMIM:600721
HP:0011097	Epileptic spasm	253959	RALGAPA1	OMIM:618797
HP:0011097	Epileptic spasm	5594	MAPK1	OMIM:619087
HP:0011097	Epileptic spasm	2566	GABRG2	OMIM:618396
HP:0011097	Epileptic spasm	283989	TSEN54	ORPHA:2524
HP:0011097	Epileptic spasm	116461	TSEN15	ORPHA:2524
HP:0011097	Epileptic spasm	79042	TSEN34	ORPHA:2524
HP:0011097	Epileptic spasm	80746	TSEN2	ORPHA:2524
HP:0011097	Epileptic spasm	51091	SEPSECS	ORPHA:2524
HP:0011097	Epileptic spasm	10297	APC2	OMIM:618677
HP:0011097	Epileptic spasm	112476	PRRT2	OMIM:128200
HP:0011097	Epileptic spasm	112476	PRRT2	OMIM:602066
HP:0011097	Epileptic spasm	150094	SIK1	ORPHA:3451
HP:0011097	Epileptic spasm	150094	SIK1	ORPHA:1935
HP:0011097	Epileptic spasm	150094	SIK1	ORPHA:1934
HP:0011097	Epileptic spasm	6709	SPTAN1	ORPHA:3451
HP:0011097	Epileptic spasm	60558	GUF1	ORPHA:3451
HP:0011097	Epileptic spasm	6326	SCN2A	ORPHA:3451
HP:0011097	Epileptic spasm	6326	SCN2A	ORPHA:1934
HP:0011097	Epileptic spasm	11152	WDR45	ORPHA:3451
HP:0011097	Epileptic spasm	5277	PIGA	ORPHA:3451
HP:0011097	Epileptic spasm	4915	NTRK2	ORPHA:3451
HP:0011097	Epileptic spasm	55739	NAXD	OMIM:618321
HP:0011097	Epileptic spasm	2562	GABRB3	OMIM:617113
HP:0011097	Epileptic spasm	55275	VPS53	OMIM:615851
HP:0011097	Epileptic spasm	23219	FBXO28	OMIM:619777
HP:0011097	Epileptic spasm	25974	MMACHC	ORPHA:79282
HP:0011097	Epileptic spasm	1107	CHD3	OMIM:618205
HP:0011097	Epileptic spasm	51294	PCDH12	OMIM:251280
HP:0011097	Epileptic spasm	5048	PAFAH1B1	ORPHA:95232
HP:0011097	Epileptic spasm	6509	SLC1A4	ORPHA:447997
HP:0011097	Epileptic spasm	2801	GOLGA2	OMIM:620240
HP:0011097	Epileptic spasm	80704	SLC19A3	ORPHA:263410
HP:0011097	Epileptic spasm	51645	PPIL1	OMIM:619301
HP:0011097	Epileptic spasm	1468	SLC25A10	OMIM:618972
HP:0011097	Epileptic spasm	51362	CDC40	OMIM:619302
HP:0011097	Epileptic spasm	57647	DHX37	OMIM:618731
HP:0011097	Epileptic spasm	1496	CTNNA2	OMIM:618174
HP:0011097	Epileptic spasm	8803	SUCLA2	OMIM:612073
HP:0011097	Epileptic spasm	8449	DHX16	OMIM:618733
HP:0011097	Epileptic spasm	55753	OGDHL	OMIM:619701
HP:0011097	Epileptic spasm	81603	TRIM8	OMIM:619428
HP:0011097	Epileptic spasm	81603	TRIM8	ORPHA:1934
HP:0011097	Epileptic spasm	11342	RNF13	ORPHA:544503
HP:0011097	Epileptic spasm	79751	SLC25A22	ORPHA:1935
HP:0011097	Epileptic spasm	79751	SLC25A22	ORPHA:1934
HP:0011097	Epileptic spasm	3736	KCNA1	ORPHA:1934
HP:0011097	Epileptic spasm	9091	PIGQ	ORPHA:1934
HP:0011097	Epileptic spasm	8573	CASK	ORPHA:1934
HP:0011097	Epileptic spasm	2917	GRM7	ORPHA:1934
HP:0011097	Epileptic spasm	11284	PNKP	ORPHA:1934
HP:0011097	Epileptic spasm	51227	PIGP	ORPHA:1934
HP:0011097	Epileptic spasm	6324	SCN1B	ORPHA:1934
HP:0011098	Speech apraxia	2592	GALT	ORPHA:79239
HP:0011098	Speech apraxia	4841	NONO	ORPHA:466791
HP:0011098	Speech apraxia	4841	NONO	OMIM:300967
HP:0011098	Speech apraxia	6535	SLC6A8	OMIM:300352
HP:0011098	Speech apraxia	253738	EBF3	OMIM:617330
HP:0011098	Speech apraxia	2903	GRIN2A	OMIM:245570
HP:0011098	Speech apraxia	2903	GRIN2A	ORPHA:163721
HP:0011098	Speech apraxia	2903	GRIN2A	ORPHA:725
HP:0011098	Speech apraxia	2903	GRIN2A	ORPHA:98818
HP:0011098	Speech apraxia	284058	KANSL1	ORPHA:363958
HP:0011098	Speech apraxia	284058	KANSL1	ORPHA:363965
HP:0011098	Speech apraxia	5728	PTEN	OMIM:605309
HP:0011098	Speech apraxia	5457	POU4F1	OMIM:619352
HP:0011098	Speech apraxia	27086	FOXP1	OMIM:613670
HP:0011098	Speech apraxia	23135	KDM6B	OMIM:618505
HP:0011098	Speech apraxia	27286	SRPX2	ORPHA:163721
HP:0011098	Speech apraxia	27286	SRPX2	OMIM:300643
HP:0011098	Speech apraxia	10273	STUB1	ORPHA:412057
HP:0011098	Speech apraxia	7874	USP7	OMIM:616863
HP:0011098	Speech apraxia	60684	TRAPPC11	OMIM:615356
HP:0011098	Speech apraxia	93986	FOXP2	ORPHA:209908
HP:0011098	Speech apraxia	84282	RNF135	ORPHA:137634
HP:0011098	Speech apraxia	1107	CHD3	OMIM:618205
HP:0011098	Speech apraxia	4137	MAPT	ORPHA:240112
HP:0011098	Speech apraxia	9969	MED13	OMIM:618009
HP:0011098	Speech apraxia	23732	FRRS1L	ORPHA:725
HP:0011098	Speech apraxia	1737	DLAT	ORPHA:79244
HP:0011098	Speech apraxia	5575	PRKAR1B	OMIM:619680
HP:0011098	Speech apraxia	23111	SPART	ORPHA:101000
HP:0011098	Speech apraxia	1105	CHD1	OMIM:617682
HP:0011098	Speech apraxia	1105	CHD1	ORPHA:529965
HP:0011098	Speech apraxia	25970	SH2B1	ORPHA:261197
HP:0011098	Speech apraxia	1760	DMPK	ORPHA:589821
HP:0011098	Speech apraxia	55690	PACS1	OMIM:615009
HP:0011098	Speech apraxia	10847	SRCAP	ORPHA:2044
HP:0011098	Speech apraxia	10743	RAI1	ORPHA:1713
HP:0011098	Speech apraxia	5813	PURA	ORPHA:314655
HP:0011098	Speech apraxia	10166	SLC25A15	ORPHA:415
HP:0011098	Speech apraxia	2584	GALK1	ORPHA:79237
HP:0011099	Spastic hemiparesis	79029	AFG2B	OMIM:619616
HP:0011099	Spastic hemiparesis	5621	PRNP	ORPHA:282166
HP:0011099	Spastic hemiparesis	3155	HMGCL	ORPHA:20
HP:0007700	Ocular anterior segment dysgenesis	2074	ERCC6	OMIM:133540
HP:0007700	Ocular anterior segment dysgenesis	2074	ERCC6	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	9361	LONP1	OMIM:600373
HP:0007700	Ocular anterior segment dysgenesis	64374	SIL1	OMIM:248800
HP:0007700	Ocular anterior segment dysgenesis	1409	CRYAA	OMIM:604219
HP:0007700	Ocular anterior segment dysgenesis	27183	VPS4A	OMIM:619273
HP:0007700	Ocular anterior segment dysgenesis	406987	MIR204	OMIM:616722
HP:0007700	Ocular anterior segment dysgenesis	55654	TMEM127	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	5979	RET	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	6390	SDHB	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	6392	SDHD	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	4149	MAX	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	7428	VHL	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	OMIM:616603
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:90348
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:447757
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:447753
HP:0007700	Ocular anterior segment dysgenesis	5309	PITX3	OMIM:610623
HP:0007700	Ocular anterior segment dysgenesis	220202	ATOH7	ORPHA:91495
HP:0007700	Ocular anterior segment dysgenesis	8322	FZD4	ORPHA:91495
HP:0007700	Ocular anterior segment dysgenesis	2671	GFER	ORPHA:330054
HP:0007700	Ocular anterior segment dysgenesis	2671	GFER	OMIM:613076
HP:0007700	Ocular anterior segment dysgenesis	1417	CRYBB3	OMIM:609741
HP:0007700	Ocular anterior segment dysgenesis	1161	ERCC8	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	2067	ERCC1	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	10093	ARPC4	OMIM:620141
HP:0007700	Ocular anterior segment dysgenesis	1411	CRYBA1	OMIM:600881
HP:0007700	Ocular anterior segment dysgenesis	1421	CRYGD	OMIM:115700
HP:0007700	Ocular anterior segment dysgenesis	9150	CTDP1	OMIM:604168
HP:0007700	Ocular anterior segment dysgenesis	23094	SIPA1L3	OMIM:616851
HP:0007700	Ocular anterior segment dysgenesis	25782	RAB3GAP2	OMIM:212720
HP:0007700	Ocular anterior segment dysgenesis	25782	RAB3GAP2	OMIM:614225
HP:0007700	Ocular anterior segment dysgenesis	1287	COL4A5	OMIM:301050
HP:0007700	Ocular anterior segment dysgenesis	2068	ERCC2	OMIM:610756
HP:0007700	Ocular anterior segment dysgenesis	2068	ERCC2	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	3417	IDH1	ORPHA:99646
HP:0007700	Ocular anterior segment dysgenesis	87178	PNPT1	ORPHA:319514
HP:0007700	Ocular anterior segment dysgenesis	4512	MT-CO1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4513	MT-CO2	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4514	MT-CO3	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4511	MT-TC	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4574	MT-TS1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4575	MT-TS2	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4558	MT-TF	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4541	MT-ND6	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4567	MT-TL1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4540	MT-ND5	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4566	MT-TK	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4535	MT-ND1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4572	MT-TQ	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4577	MT-TV	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4578	MT-TW	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4810	NHS	OMIM:302350
HP:0007700	Ocular anterior segment dysgenesis	57589	RIC1	OMIM:618761
HP:0007700	Ocular anterior segment dysgenesis	22930	RAB3GAP1	OMIM:600118
HP:0007700	Ocular anterior segment dysgenesis	22930	RAB3GAP1	OMIM:619420
HP:0007700	Ocular anterior segment dysgenesis	284058	KANSL1	ORPHA:363958
HP:0007700	Ocular anterior segment dysgenesis	284058	KANSL1	ORPHA:363965
HP:0007700	Ocular anterior segment dysgenesis	23511	NUP188	OMIM:618804
HP:0007700	Ocular anterior segment dysgenesis	81857	MED25	ORPHA:464738
HP:0007700	Ocular anterior segment dysgenesis	55699	IARS2	ORPHA:436174
HP:0007700	Ocular anterior segment dysgenesis	4047	LSS	OMIM:616509
HP:0007700	Ocular anterior segment dysgenesis	55750	AGK	OMIM:212350
HP:0007700	Ocular anterior segment dysgenesis	55750	AGK	OMIM:614691
HP:0007700	Ocular anterior segment dysgenesis	5191	PEX7	OMIM:215100
HP:0007700	Ocular anterior segment dysgenesis	20	ABCA2	OMIM:618808
HP:0007700	Ocular anterior segment dysgenesis	3339	HSPG2	ORPHA:1865
HP:0007700	Ocular anterior segment dysgenesis	1420	CRYGC	OMIM:604307
HP:0007700	Ocular anterior segment dysgenesis	857	CAV1	OMIM:606721
HP:0007700	Ocular anterior segment dysgenesis	7086	TKT	OMIM:617044
HP:0007700	Ocular anterior segment dysgenesis	22872	SEC31A	OMIM:618651
HP:0007700	Ocular anterior segment dysgenesis	128637	TBC1D20	OMIM:615663
HP:0007700	Ocular anterior segment dysgenesis	1410	CRYAB	OMIM:613763
HP:0007700	Ocular anterior segment dysgenesis	55210	ATAD3A	OMIM:618810
HP:0007700	Ocular anterior segment dysgenesis	55210	ATAD3A	OMIM:617183
HP:0007700	Ocular anterior segment dysgenesis	84668	HYCC1	OMIM:610532
HP:0007700	Ocular anterior segment dysgenesis	84668	HYCC1	ORPHA:85163
HP:0007700	Ocular anterior segment dysgenesis	26227	PHGDH	ORPHA:79351
HP:0007700	Ocular anterior segment dysgenesis	26227	PHGDH	OMIM:601815
HP:0007700	Ocular anterior segment dysgenesis	4000	LMNA	ORPHA:79474
HP:0007700	Ocular anterior segment dysgenesis	57572	DOCK6	OMIM:614219
HP:0007700	Ocular anterior segment dysgenesis	4758	NEU1	ORPHA:93400
HP:0007700	Ocular anterior segment dysgenesis	1798	DPAGT1	ORPHA:86309
HP:0007700	Ocular anterior segment dysgenesis	1415	CRYBB2	OMIM:601547
HP:0007700	Ocular anterior segment dysgenesis	1969	EPHA2	OMIM:116600
HP:0007700	Ocular anterior segment dysgenesis	5702	PSMC3	OMIM:619354
HP:0007700	Ocular anterior segment dysgenesis	22931	RAB18	OMIM:614222
HP:0007700	Ocular anterior segment dysgenesis	9401	RECQL4	ORPHA:221016
HP:0007700	Ocular anterior segment dysgenesis	9894	TELO2	ORPHA:488642
HP:0007700	Ocular anterior segment dysgenesis	8419	BFSP2	OMIM:611597
HP:0007700	Ocular anterior segment dysgenesis	1282	COL4A1	OMIM:175780
HP:0007700	Ocular anterior segment dysgenesis	4952	OCRL	OMIM:309000
HP:0007700	Ocular anterior segment dysgenesis	84992	PIGY	OMIM:616809
HP:0007700	Ocular anterior segment dysgenesis	23137	SMC5	OMIM:620185
HP:0007700	Ocular anterior segment dysgenesis	80781	COL18A1	OMIM:267750
HP:0007700	Ocular anterior segment dysgenesis	1412	CRYBA2	OMIM:115900
HP:0007700	Ocular anterior segment dysgenesis	284252	KCTD1	OMIM:181270
HP:0007700	Ocular anterior segment dysgenesis	54880	BCOR	OMIM:300166
HP:0007700	Ocular anterior segment dysgenesis	79813	EHMT1	ORPHA:261652
HP:0007700	Ocular anterior segment dysgenesis	58508	KMT2C	ORPHA:261652
HP:0007700	Ocular anterior segment dysgenesis	4094	MAF	ORPHA:1272
HP:0007700	Ocular anterior segment dysgenesis	4094	MAF	OMIM:601088
HP:0007700	Ocular anterior segment dysgenesis	953	ENTPD1	OMIM:615683
HP:0007700	Ocular anterior segment dysgenesis	57724	EPG5	OMIM:242840
HP:0007700	Ocular anterior segment dysgenesis	2651	GCNT2	OMIM:116700
HP:0007700	Ocular anterior segment dysgenesis	3739	KCNA4	OMIM:618284
HP:0007700	Ocular anterior segment dysgenesis	9197	SLC33A1	OMIM:614482
HP:0007700	Ocular anterior segment dysgenesis	9215	LARGE1	OMIM:613154
HP:0007700	Ocular anterior segment dysgenesis	5286	PIK3C2A	OMIM:618440
HP:0007700	Ocular anterior segment dysgenesis	5286	PIK3C2A	ORPHA:557003
HP:0007700	Ocular anterior segment dysgenesis	10585	POMT1	OMIM:613155
HP:0007700	Ocular anterior segment dysgenesis	10516	FBLN5	ORPHA:90348
HP:0007700	Ocular anterior segment dysgenesis	8799	PEX11B	OMIM:614920
HP:0007700	Ocular anterior segment dysgenesis	63901	FAM111A	OMIM:127000
HP:0007700	Ocular anterior segment dysgenesis	63901	FAM111A	ORPHA:93325
HP:0007700	Ocular anterior segment dysgenesis	404672	GTF2H5	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	404672	GTF2H5	OMIM:616395
HP:0007700	Ocular anterior segment dysgenesis	833	CARS1	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	7737	RNF113A	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	136647	MPLKIP	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	6897	TARS1	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	2071	ERCC3	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	2961	GTF2E2	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	84188	FAR1	ORPHA:447753
HP:0007700	Ocular anterior segment dysgenesis	1419	CRYGB	OMIM:615188
HP:0007700	Ocular anterior segment dysgenesis	7319	UBE2A	ORPHA:163956
HP:0007700	Ocular anterior segment dysgenesis	6307	MSMO1	OMIM:616834
HP:0007700	Ocular anterior segment dysgenesis	7439	BEST1	OMIM:193220
HP:0007700	Ocular anterior segment dysgenesis	1414	CRYBB1	OMIM:611544
HP:0007700	Ocular anterior segment dysgenesis	5830	PEX5	OMIM:616716
HP:0007700	Ocular anterior segment dysgenesis	2108	ETFA	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	2109	ETFB	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	2110	ETFDH	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	64682	ANAPC1	ORPHA:221008
HP:0007700	Ocular anterior segment dysgenesis	64840	PORCN	OMIM:305600
HP:0007700	Ocular anterior segment dysgenesis	197257	LDHD	OMIM:245450
HP:0007700	Ocular anterior segment dysgenesis	1743	DLST	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	4191	MDH2	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6389	SDHA	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	23095	KIF1B	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	2271	FH	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	8402	SLC25A11	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	54949	SDHAF2	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	4763	NF1	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6391	SDHC	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	3708	ITPR1	ORPHA:1065
HP:0007700	Ocular anterior segment dysgenesis	3708	ITPR1	OMIM:206700
HP:0007700	Ocular anterior segment dysgenesis	26610	ELP4	OMIM:617141
HP:0007700	Ocular anterior segment dysgenesis	1750	DLX6	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	7979	SEM1	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	8945	BTRC	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	8626	TP63	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	58513	EPS15L1	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	6468	FBXW4	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	7480	WNT10B	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	1749	DLX5	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	5978	REST	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	129563	DIS3L2	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	9319	TRIP13	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	10155	TRIM28	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	11281	POU6F2	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	2719	GPC3	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	283120	H19	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	7837	PXDN	OMIM:269400
HP:0007700	Ocular anterior segment dysgenesis	2776	GNAQ	OMIM:185300
HP:0007700	Ocular anterior segment dysgenesis	29954	POMT2	OMIM:613150
HP:0007700	Ocular anterior segment dysgenesis	29954	POMT2	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	2530	FUT8	OMIM:618005
HP:0007700	Ocular anterior segment dysgenesis	54892	NCAPG2	OMIM:618460
HP:0007700	Ocular anterior segment dysgenesis	7291	TWIST1	OMIM:101400
HP:0007700	Ocular anterior segment dysgenesis	2263	FGFR2	OMIM:101400
HP:0007700	Ocular anterior segment dysgenesis	4081	MAB21L1	OMIM:618479
HP:0007700	Ocular anterior segment dysgenesis	1605	DAG1	OMIM:616538
HP:0007700	Ocular anterior segment dysgenesis	1605	DAG1	ORPHA:370997
HP:0007700	Ocular anterior segment dysgenesis	55624	POMGNT1	OMIM:253280
HP:0007700	Ocular anterior segment dysgenesis	4990	SIX6	OMIM:212550
HP:0007700	Ocular anterior segment dysgenesis	79147	FKRP	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	2218	FKTN	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	5728	PTEN	ORPHA:744
HP:0007700	Ocular anterior segment dysgenesis	207	AKT1	ORPHA:744
HP:0007700	Ocular anterior segment dysgenesis	92949	ADAMTSL1	ORPHA:521445
HP:0007700	Ocular anterior segment dysgenesis	5295	PIK3R1	OMIM:269880
HP:0007700	Ocular anterior segment dysgenesis	53834	FGFRL1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	1487	CTBP1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	3954	LETM1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	7468	NSD2	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	10815	CPLX1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	3480	IGF1R	OMIM:270450
HP:0007700	Ocular anterior segment dysgenesis	473	RERE	ORPHA:494344
HP:0007700	Ocular anterior segment dysgenesis	473	RERE	OMIM:616975
HP:0007700	Ocular anterior segment dysgenesis	22884	WDR37	OMIM:618652
HP:0007700	Ocular anterior segment dysgenesis	1349	COX7B	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	3052	HCCS	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	54539	NDUFB11	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	54765	TRIM44	ORPHA:250923
HP:0007700	Ocular anterior segment dysgenesis	145173	B3GLCT	OMIM:261540
HP:0007700	Ocular anterior segment dysgenesis	145173	B3GLCT	ORPHA:709
HP:0007700	Ocular anterior segment dysgenesis	729920	CRPPA	OMIM:614643
HP:0007700	Ocular anterior segment dysgenesis	1063	CENPF	OMIM:243605
HP:0007700	Ocular anterior segment dysgenesis	1000	CDH2	OMIM:618929
HP:0007700	Ocular anterior segment dysgenesis	9469	CHST3	OMIM:245600
HP:0007700	Ocular anterior segment dysgenesis	26229	B3GAT3	OMIM:245600
HP:0007700	Ocular anterior segment dysgenesis	6135	RPL11	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6138	RPL15	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6229	RPS24	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6125	RPL5	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6204	RPS10	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6224	RPS20	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6165	RPL35A	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	2623	GATA1	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6223	RPS19	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6232	RPS27	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6231	RPS26	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	11224	RPL35	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6160	RPL31	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6218	RPS17	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6201	RPS7	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6155	RPL27	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6154	RPL26	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6210	RPS15A	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	90121	TSR2	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6141	RPL18	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6235	RPS29	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6234	RPS28	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	51816	ADA2	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	285590	SH3PXD2B	OMIM:249420
HP:0007700	Ocular anterior segment dysgenesis	1545	CYP1B1	OMIM:617315
HP:0007700	Ocular anterior segment dysgenesis	1545	CYP1B1	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	389692	MAFA	OMIM:147630
HP:0007700	Ocular anterior segment dysgenesis	6736	SRY	ORPHA:1772
HP:0007700	Ocular anterior segment dysgenesis	169792	GLIS3	OMIM:610199
HP:0007700	Ocular anterior segment dysgenesis	5831	PYCR1	OMIM:614438
HP:0007700	Ocular anterior segment dysgenesis	5080	PAX6	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	5308	PITX2	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	81846	SBF2	ORPHA:99956
HP:0007700	Ocular anterior segment dysgenesis	10535	RNASEH2A	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	84153	RNASEH2C	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	25939	SAMHD1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	79621	RNASEH2B	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	103	ADAR	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	11277	TREX1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	100147744	RNU7-1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	134353	LSM11	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	64135	IFIH1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	124583	CANT1	OMIM:251450
HP:0007700	Ocular anterior segment dysgenesis	2316	FLNA	ORPHA:90652
HP:0007700	Ocular anterior segment dysgenesis	81031	SLC2A10	ORPHA:3342
HP:0007700	Ocular anterior segment dysgenesis	11107	PRDM5	OMIM:614170
HP:0007700	Ocular anterior segment dysgenesis	11107	PRDM5	ORPHA:90354
HP:0007700	Ocular anterior segment dysgenesis	63895	PIEZO2	OMIM:108145
HP:0007700	Ocular anterior segment dysgenesis	84627	ZNF469	ORPHA:90354
HP:0007700	Ocular anterior segment dysgenesis	84627	ZNF469	OMIM:229200
HP:0007700	Ocular anterior segment dysgenesis	9839	ZEB2	ORPHA:261537
HP:0007700	Ocular anterior segment dysgenesis	9839	ZEB2	ORPHA:261552
HP:0007700	Ocular anterior segment dysgenesis	182	JAG1	OMIM:118450
HP:0007700	Ocular anterior segment dysgenesis	2296	FOXC1	OMIM:601631
HP:0007700	Ocular anterior segment dysgenesis	146167	SLC38A8	OMIM:609218
HP:0007700	Ocular anterior segment dysgenesis	9653	HS2ST1	OMIM:619194
HP:0007700	Ocular anterior segment dysgenesis	55733	HHAT	ORPHA:1422
HP:0007700	Ocular anterior segment dysgenesis	55733	HHAT	OMIM:600092
HP:0007700	Ocular anterior segment dysgenesis	6786	STIM1	OMIM:612783
HP:0007700	Ocular anterior segment dysgenesis	406960	MIR184	OMIM:614303
HP:0007700	Ocular anterior segment dysgenesis	84942	WDR73	OMIM:251300
HP:0007700	Ocular anterior segment dysgenesis	4036	LRP2	OMIM:222448
HP:0007700	Ocular anterior segment dysgenesis	30813	VSX1	OMIM:614195
HP:0007700	Ocular anterior segment dysgenesis	2260	FGFR1	OMIM:613001
HP:0007700	Ocular anterior segment dysgenesis	6663	SOX10	OMIM:611584
HP:0007700	Ocular anterior segment dysgenesis	23389	MED13L	ORPHA:369891
HP:0007700	Ocular anterior segment dysgenesis	55714	TENM3	OMIM:615145
HP:0007700	Ocular anterior segment dysgenesis	4519	MT-CYB	ORPHA:137675
HP:0007700	Ocular anterior segment dysgenesis	2301	FOXE3	ORPHA:83461
HP:0007700	Ocular anterior segment dysgenesis	2301	FOXE3	OMIM:610256
HP:0007700	Ocular anterior segment dysgenesis	4796	TONSL	ORPHA:93357
HP:0007700	Ocular anterior segment dysgenesis	57167	SALL4	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	9935	MAFB	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	1123	CHN1	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	4286	MITF	OMIM:193510
HP:0007700	Ocular anterior segment dysgenesis	5077	PAX3	OMIM:193500
HP:0007700	Ocular anterior segment dysgenesis	7010	TEK	OMIM:600975
HP:0007700	Ocular anterior segment dysgenesis	627	BDNF	ORPHA:893
HP:0007700	Ocular anterior segment dysgenesis	7490	WT1	ORPHA:893
HP:0007700	Ocular anterior segment dysgenesis	84314	TMEM107	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	26123	TCTN3	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79867	TCTN2	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	80776	B9D2	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79600	TCTN1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	57096	RPGRIP1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79848	CSPP1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	80184	CEP290	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	51259	TMEM216	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	57545	CC2D2A	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79583	TMEM231	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	91147	TMEM67	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79770	TXNDC15	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	27077	B9D1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	23322	RPGRIP1L	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	54903	MKS1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	65062	TMEM237	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	6804	STX1A	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	7461	CLIP2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	84277	DNAJC30	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	8468	FKBP6	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	5982	RFC2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	2969	GTF2I	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	3984	LIMK1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	9569	GTF2IRD1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	155382	VPS37D	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	155368	METTL27	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	114049	BUD23	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	7458	EIF4H	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	84163	GTF2IRD2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	9275	BCL7B	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	26608	TBL2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	653361	NCF1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	135886	TMEM270	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	51085	MLXIPL	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	9031	BAZ1B	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	2006	ELN	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	672	BRCA1	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	10459	MAD2L2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	7516	XRCC2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	29089	UBE2T	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	675	BRCA2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55120	FANCL	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2177	FANCD2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2175	FANCA	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2187	FANCB	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2176	FANCC	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2178	FANCE	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2188	FANCF	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2189	FANCG	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	5888	RAD51	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	5889	RAD51C	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55159	RFWD3	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	83990	BRIP1	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	57697	FANCM	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	79728	PALB2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	84464	SLX4	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2072	ERCC4	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55215	FANCI	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	1280	COL2A1	ORPHA:485
HP:0007700	Ocular anterior segment dysgenesis	64132	XYLT2	ORPHA:85194
HP:0007700	Ocular anterior segment dysgenesis	4693	NDP	ORPHA:649
HP:0007700	Ocular anterior segment dysgenesis	4010	LMX1B	OMIM:161200
HP:0007700	Ocular anterior segment dysgenesis	27151	CPAMD8	OMIM:617319
HP:0007700	Ocular anterior segment dysgenesis	3166	HMX1	OMIM:612109
HP:0007700	Ocular anterior segment dysgenesis	2670	GFAP	OMIM:203450
HP:0007700	Ocular anterior segment dysgenesis	5950	RBP4	OMIM:616428
HP:0007700	Ocular anterior segment dysgenesis	3913	LAMB2	OMIM:609049
HP:0007700	Ocular anterior segment dysgenesis	2200	FBN1	OMIM:608328
HP:0007700	Ocular anterior segment dysgenesis	2200	FBN1	OMIM:154700
HP:0007700	Ocular anterior segment dysgenesis	4053	LTBP2	OMIM:614819
HP:0007700	Ocular anterior segment dysgenesis	4053	LTBP2	OMIM:251750
HP:0007700	Ocular anterior segment dysgenesis	81794	ADAMTS10	OMIM:277600
HP:0007700	Ocular anterior segment dysgenesis	57479	PRR12	OMIM:619539
HP:0007700	Ocular anterior segment dysgenesis	23291	FBXW11	OMIM:618914
HP:0007700	Ocular anterior segment dysgenesis	2248	FGF3	ORPHA:2791
HP:0008041	Late onset congenital glaucoma	1545	CYP1B1	OMIM:231300
HP:0000550	Undetectable electroretinogram	167691	LCA5	OMIM:604537
HP:0000550	Undetectable electroretinogram	167691	LCA5	ORPHA:364055
HP:0000550	Undetectable electroretinogram	346007	EYS	OMIM:602772
HP:0000550	Undetectable electroretinogram	7287	TULP1	OMIM:600132
HP:0000550	Undetectable electroretinogram	5538	PPT1	OMIM:256730
HP:0000550	Undetectable electroretinogram	4901	NRL	OMIM:613750
HP:0000550	Undetectable electroretinogram	55624	POMGNT1	OMIM:253280
HP:0000550	Undetectable electroretinogram	3295	HSD17B4	OMIM:261515
HP:0000550	Undetectable electroretinogram	1201	CLN3	ORPHA:228346
HP:0000550	Undetectable electroretinogram	1201	CLN3	OMIM:204200
HP:0000550	Undetectable electroretinogram	23418	CRB1	OMIM:613835
HP:0000550	Undetectable electroretinogram	23418	CRB1	OMIM:600105
HP:0000550	Undetectable electroretinogram	2055	CLN8	ORPHA:1947
HP:0000550	Undetectable electroretinogram	64802	NMNAT1	OMIM:608553
HP:0000550	Undetectable electroretinogram	64802	NMNAT1	OMIM:619260
HP:0000550	Undetectable electroretinogram	4647	MYO7A	OMIM:276900
HP:0000550	Undetectable electroretinogram	10083	USH1C	OMIM:276900
HP:0000550	Undetectable electroretinogram	10002	NR2E3	OMIM:268100
HP:0000550	Undetectable electroretinogram	23155	CLCC1	OMIM:609913
HP:0000550	Undetectable electroretinogram	9227	LRAT	ORPHA:364055
HP:0000550	Undetectable electroretinogram	9227	LRAT	OMIM:613341
HP:0000550	Undetectable electroretinogram	55812	SPATA7	ORPHA:364055
HP:0000550	Undetectable electroretinogram	6121	RPE65	ORPHA:364055
HP:0000550	Undetectable electroretinogram	9742	IFT140	OMIM:266920
HP:0000550	Undetectable electroretinogram	8842	PROM1	OMIM:612095
HP:0000550	Undetectable electroretinogram	55857	KIZ	OMIM:615780
HP:0000550	Undetectable electroretinogram	5147	PDE6D	OMIM:615665
HP:0000550	Undetectable electroretinogram	1200	TPP1	OMIM:204500
HP:0000550	Undetectable electroretinogram	57545	CC2D2A	OMIM:619845
HP:0000550	Undetectable electroretinogram	768206	PRCD	OMIM:610599
HP:0000550	Undetectable electroretinogram	57096	RPGRIP1	OMIM:613826
HP:0000550	Undetectable electroretinogram	28982	FLVCR1	OMIM:609033
HP:0000550	Undetectable electroretinogram	1406	CRX	OMIM:613829
HP:0008043	Retinal arteriolar constriction	7287	TULP1	OMIM:600132
HP:0008043	Retinal arteriolar constriction	9129	PRPF3	OMIM:601414
HP:0008043	Retinal arteriolar constriction	7439	BEST1	OMIM:193220
HP:0000597	Ophthalmoparesis	353116	RILPL1	OMIM:619790
HP:0000597	Ophthalmoparesis	2483	FRG1	OMIM:158900
HP:0000597	Ophthalmoparesis	35	ACADS	OMIM:201470
HP:0000597	Ophthalmoparesis	63899	NSUN3	OMIM:619012
HP:0000597	Ophthalmoparesis	6390	SDHB	ORPHA:3208
HP:0000597	Ophthalmoparesis	6392	SDHD	ORPHA:3208
HP:0000597	Ophthalmoparesis	644096	SDHAF1	ORPHA:3208
HP:0000597	Ophthalmoparesis	90624	LYRM7	OMIM:615838
HP:0000597	Ophthalmoparesis	4534	MTM1	OMIM:310400
HP:0000597	Ophthalmoparesis	64419	MTMR14	ORPHA:169189
HP:0000597	Ophthalmoparesis	64419	MTMR14	OMIM:160150
HP:0000597	Ophthalmoparesis	4618	MYF6	ORPHA:169189
HP:0000597	Ophthalmoparesis	1785	DNM2	ORPHA:169189
HP:0000597	Ophthalmoparesis	1785	DNM2	OMIM:160150
HP:0000597	Ophthalmoparesis	4556	MT-TE	ORPHA:225
HP:0000597	Ophthalmoparesis	84842	HPDL	OMIM:619026
HP:0000597	Ophthalmoparesis	10533	ATG7	OMIM:619422
HP:0000597	Ophthalmoparesis	56947	MFF	OMIM:617086
HP:0000597	Ophthalmoparesis	56947	MFF	ORPHA:485421
HP:0000597	Ophthalmoparesis	4617	MYF5	OMIM:618155
HP:0000597	Ophthalmoparesis	101060691	NUTM2B-AS1	OMIM:618637
HP:0000597	Ophthalmoparesis	113278	SLC52A3	OMIM:211530
HP:0000597	Ophthalmoparesis	6786	STIM1	OMIM:160565
HP:0000597	Ophthalmoparesis	4558	MT-TF	ORPHA:550
HP:0000597	Ophthalmoparesis	4572	MT-TQ	ORPHA:550
HP:0000597	Ophthalmoparesis	4512	MT-CO1	ORPHA:550
HP:0000597	Ophthalmoparesis	4513	MT-CO2	ORPHA:550
HP:0000597	Ophthalmoparesis	4514	MT-CO3	ORPHA:550
HP:0000597	Ophthalmoparesis	4578	MT-TW	ORPHA:550
HP:0000597	Ophthalmoparesis	4540	MT-ND5	ORPHA:550
HP:0000597	Ophthalmoparesis	4541	MT-ND6	ORPHA:550
HP:0000597	Ophthalmoparesis	4535	MT-ND1	ORPHA:550
HP:0000597	Ophthalmoparesis	4538	MT-ND4	ORPHA:550
HP:0000597	Ophthalmoparesis	4567	MT-TL1	ORPHA:550
HP:0000597	Ophthalmoparesis	4567	MT-TL1	ORPHA:663
HP:0000597	Ophthalmoparesis	4567	MT-TL1	ORPHA:480
HP:0000597	Ophthalmoparesis	4574	MT-TS1	ORPHA:550
HP:0000597	Ophthalmoparesis	4574	MT-TS1	ORPHA:663
HP:0000597	Ophthalmoparesis	4575	MT-TS2	ORPHA:550
HP:0000597	Ophthalmoparesis	4564	MT-TH	ORPHA:550
HP:0000597	Ophthalmoparesis	1716	DGUOK	OMIM:617070
HP:0000597	Ophthalmoparesis	1716	DGUOK	ORPHA:329314
HP:0000597	Ophthalmoparesis	7084	TK2	ORPHA:254875
HP:0000597	Ophthalmoparesis	7084	TK2	OMIM:617069
HP:0000597	Ophthalmoparesis	1763	DNA2	OMIM:615156
HP:0000597	Ophthalmoparesis	1763	DNA2	ORPHA:352470
HP:0000597	Ophthalmoparesis	4576	MT-TT	ORPHA:254857
HP:0000597	Ophthalmoparesis	50484	RRM2B	OMIM:613077
HP:0000597	Ophthalmoparesis	50484	RRM2B	ORPHA:329336
HP:0000597	Ophthalmoparesis	50484	RRM2B	ORPHA:480
HP:0000597	Ophthalmoparesis	246243	RNASEH1	ORPHA:329336
HP:0000597	Ophthalmoparesis	246243	RNASEH1	OMIM:616479
HP:0000597	Ophthalmoparesis	291	SLC25A4	OMIM:609283
HP:0000597	Ophthalmoparesis	708	C1QBP	OMIM:617713
HP:0000597	Ophthalmoparesis	1890	TYMP	OMIM:603041
HP:0000597	Ophthalmoparesis	4287	ATXN3	ORPHA:276244
HP:0000597	Ophthalmoparesis	4287	ATXN3	ORPHA:276241
HP:0000597	Ophthalmoparesis	4287	ATXN3	ORPHA:276238
HP:0000597	Ophthalmoparesis	4566	MT-TK	ORPHA:1349
HP:0000597	Ophthalmoparesis	4976	OPA1	OMIM:165500
HP:0000597	Ophthalmoparesis	4976	OPA1	ORPHA:1215
HP:0000597	Ophthalmoparesis	57176	VARS2	OMIM:615917
HP:0000597	Ophthalmoparesis	56652	TWNK	OMIM:609286
HP:0000597	Ophthalmoparesis	56652	TWNK	OMIM:607459
HP:0000597	Ophthalmoparesis	92667	MGME1	ORPHA:352447
HP:0000597	Ophthalmoparesis	92667	MGME1	OMIM:615084
HP:0000597	Ophthalmoparesis	4568	MT-TL2	ORPHA:663
HP:0000597	Ophthalmoparesis	4570	MT-TN	ORPHA:663
HP:0000597	Ophthalmoparesis	4509	MT-ATP8	ORPHA:480
HP:0000597	Ophthalmoparesis	5442	POLRMT	OMIM:619743
HP:0000597	Ophthalmoparesis	7156	TOP3A	OMIM:618098
HP:0000597	Ophthalmoparesis	11232	POLG2	OMIM:610131
HP:0000597	Ophthalmoparesis	54840	APTX	OMIM:208920
HP:0000597	Ophthalmoparesis	10755	GIPC1	ORPHA:98897
HP:0000597	Ophthalmoparesis	100996717	NOTCH2NLC	ORPHA:98897
HP:0000597	Ophthalmoparesis	26191	PTPN22	ORPHA:397
HP:0000597	Ophthalmoparesis	3106	HLA-B	ORPHA:397
HP:0000597	Ophthalmoparesis	3123	HLA-DRB1	ORPHA:397
HP:0000597	Ophthalmoparesis	8974	P4HA2	ORPHA:397
HP:0000597	Ophthalmoparesis	2673	GFPT1	OMIM:608931
HP:0000597	Ophthalmoparesis	2673	GFPT1	OMIM:610542
HP:0000597	Ophthalmoparesis	23345	SYNE1	ORPHA:88644
HP:0000597	Ophthalmoparesis	10312	TCIRG1	OMIM:259700
HP:0000597	Ophthalmoparesis	8659	ALDH4A1	ORPHA:79101
HP:0000597	Ophthalmoparesis	100134444	KCNJ18	ORPHA:79102
HP:0000597	Ophthalmoparesis	2556	GABRA3	ORPHA:79102
HP:0000597	Ophthalmoparesis	1822	ATN1	ORPHA:101
HP:0000597	Ophthalmoparesis	4536	MT-ND2	ORPHA:255210
HP:0000597	Ophthalmoparesis	4537	MT-ND3	ORPHA:255210
HP:0000597	Ophthalmoparesis	4508	MT-ATP6	ORPHA:255210
HP:0000597	Ophthalmoparesis	10939	AFG3L2	ORPHA:101109
HP:0000597	Ophthalmoparesis	10939	AFG3L2	OMIM:610246
HP:0000597	Ophthalmoparesis	8292	COLQ	ORPHA:98915
HP:0000597	Ophthalmoparesis	8292	COLQ	OMIM:603034
HP:0000597	Ophthalmoparesis	3913	LAMB2	ORPHA:98915
HP:0000597	Ophthalmoparesis	4038	LRP4	ORPHA:98913
HP:0000597	Ophthalmoparesis	5913	RAPSN	ORPHA:98913
HP:0000597	Ophthalmoparesis	221264	AK9	ORPHA:98913
HP:0000597	Ophthalmoparesis	285489	DOK7	ORPHA:98913
HP:0000597	Ophthalmoparesis	285489	DOK7	OMIM:254300
HP:0000597	Ophthalmoparesis	3980	LIG3	ORPHA:298
HP:0000597	Ophthalmoparesis	7345	UCHL1	OMIM:615491
HP:0000597	Ophthalmoparesis	29967	LRP12	OMIM:164310
HP:0000597	Ophthalmoparesis	23479	ISCU	OMIM:255125
HP:0000597	Ophthalmoparesis	4137	MAPT	OMIM:260540
HP:0000597	Ophthalmoparesis	274	BIN1	ORPHA:169186
HP:0000597	Ophthalmoparesis	274	BIN1	OMIM:255200
HP:0000597	Ophthalmoparesis	10290	SPEG	ORPHA:169186
HP:0000597	Ophthalmoparesis	10290	SPEG	OMIM:615959
HP:0000597	Ophthalmoparesis	6261	RYR1	ORPHA:169186
HP:0000597	Ophthalmoparesis	6261	RYR1	ORPHA:424107
HP:0000597	Ophthalmoparesis	6261	RYR1	ORPHA:597
HP:0000597	Ophthalmoparesis	7273	TTN	ORPHA:169186
HP:0000597	Ophthalmoparesis	1134	CHRNA1	OMIM:601462
HP:0000597	Ophthalmoparesis	92840	REEP6	ORPHA:791
HP:0000597	Ophthalmoparesis	6094	ROM1	ORPHA:791
HP:0000597	Ophthalmoparesis	6017	RLBP1	ORPHA:791
HP:0000597	Ophthalmoparesis	7401	CLRN1	ORPHA:791
HP:0000597	Ophthalmoparesis	24	ABCA4	ORPHA:791
HP:0000597	Ophthalmoparesis	130557	ZNF513	ORPHA:791
HP:0000597	Ophthalmoparesis	582	BBS1	ORPHA:791
HP:0000597	Ophthalmoparesis	92211	CDHR1	ORPHA:791
HP:0000597	Ophthalmoparesis	23568	ARL2BP	ORPHA:791
HP:0000597	Ophthalmoparesis	6121	RPE65	ORPHA:791
HP:0000597	Ophthalmoparesis	54806	AHI1	ORPHA:791
HP:0000597	Ophthalmoparesis	6101	RP1	ORPHA:791
HP:0000597	Ophthalmoparesis	3419	IDH3A	ORPHA:791
HP:0000597	Ophthalmoparesis	4751	NEK2	ORPHA:791
HP:0000597	Ophthalmoparesis	346007	EYS	ORPHA:791
HP:0000597	Ophthalmoparesis	8100	IFT88	ORPHA:791
HP:0000597	Ophthalmoparesis	23020	SNRNP200	ORPHA:791
HP:0000597	Ophthalmoparesis	762	CA4	ORPHA:791
HP:0000597	Ophthalmoparesis	138050	HGSNAT	ORPHA:791
HP:0000597	Ophthalmoparesis	196	AHR	ORPHA:791
HP:0000597	Ophthalmoparesis	3614	IMPDH1	ORPHA:791
HP:0000597	Ophthalmoparesis	123016	TTC8	ORPHA:791
HP:0000597	Ophthalmoparesis	6103	RPGR	ORPHA:791
HP:0000597	Ophthalmoparesis	1406	CRX	ORPHA:791
HP:0000597	Ophthalmoparesis	5148	PDE6G	ORPHA:791
HP:0000597	Ophthalmoparesis	26160	IFT172	ORPHA:791
HP:0000597	Ophthalmoparesis	26121	PRPF31	ORPHA:791
HP:0000597	Ophthalmoparesis	583	BBS2	ORPHA:791
HP:0000597	Ophthalmoparesis	4117	MAK	ORPHA:791
HP:0000597	Ophthalmoparesis	25794	FSCN2	ORPHA:791
HP:0000597	Ophthalmoparesis	375298	CERKL	ORPHA:791
HP:0000597	Ophthalmoparesis	3420	IDH3B	ORPHA:791
HP:0000597	Ophthalmoparesis	57670	KIAA1549	ORPHA:791
HP:0000597	Ophthalmoparesis	7275	TUB	ORPHA:791
HP:0000597	Ophthalmoparesis	24148	PRPF6	ORPHA:791
HP:0000597	Ophthalmoparesis	23418	CRB1	ORPHA:791
HP:0000597	Ophthalmoparesis	10461	MERTK	ORPHA:791
HP:0000597	Ophthalmoparesis	57709	SLC7A14	ORPHA:791
HP:0000597	Ophthalmoparesis	768206	PRCD	ORPHA:791
HP:0000597	Ophthalmoparesis	7399	USH2A	ORPHA:791
HP:0000597	Ophthalmoparesis	23370	ARHGEF18	ORPHA:791
HP:0000597	Ophthalmoparesis	5949	RBP3	ORPHA:791
HP:0000597	Ophthalmoparesis	6010	RHO	ORPHA:791
HP:0000597	Ophthalmoparesis	6100	RP9	ORPHA:791
HP:0000597	Ophthalmoparesis	10002	NR2E3	ORPHA:791
HP:0000597	Ophthalmoparesis	9227	LRAT	ORPHA:791
HP:0000597	Ophthalmoparesis	84140	FAM161A	ORPHA:791
HP:0000597	Ophthalmoparesis	55812	SPATA7	ORPHA:791
HP:0000597	Ophthalmoparesis	55624	POMGNT1	ORPHA:791
HP:0000597	Ophthalmoparesis	79797	ZNF408	ORPHA:791
HP:0000597	Ophthalmoparesis	403	ARL3	ORPHA:791
HP:0000597	Ophthalmoparesis	5145	PDE6A	ORPHA:791
HP:0000597	Ophthalmoparesis	10210	TOPORS	ORPHA:791
HP:0000597	Ophthalmoparesis	8842	PROM1	ORPHA:791
HP:0000597	Ophthalmoparesis	9128	PRPF4	ORPHA:791
HP:0000597	Ophthalmoparesis	145226	RDH12	ORPHA:791
HP:0000597	Ophthalmoparesis	50939	IMPG2	ORPHA:791
HP:0000597	Ophthalmoparesis	8481	OFD1	ORPHA:791
HP:0000597	Ophthalmoparesis	49855	SCAPER	ORPHA:791
HP:0000597	Ophthalmoparesis	9742	IFT140	ORPHA:791
HP:0000597	Ophthalmoparesis	2979	GUCA1B	ORPHA:791
HP:0000597	Ophthalmoparesis	1259	CNGA1	ORPHA:791
HP:0000597	Ophthalmoparesis	1258	CNGB1	ORPHA:791
HP:0000597	Ophthalmoparesis	60509	AGBL5	ORPHA:791
HP:0000597	Ophthalmoparesis	5961	PRPH2	ORPHA:791
HP:0000597	Ophthalmoparesis	388939	PCARE	ORPHA:791
HP:0000597	Ophthalmoparesis	7439	BEST1	ORPHA:791
HP:0000597	Ophthalmoparesis	9785	DHX38	ORPHA:791
HP:0000597	Ophthalmoparesis	7287	TULP1	ORPHA:791
HP:0000597	Ophthalmoparesis	5995	RGR	ORPHA:791
HP:0000597	Ophthalmoparesis	9129	PRPF3	ORPHA:791
HP:0000597	Ophthalmoparesis	55975	KLHL7	ORPHA:791
HP:0000597	Ophthalmoparesis	3617	IMPG1	ORPHA:791
HP:0000597	Ophthalmoparesis	94137	RP1L1	ORPHA:791
HP:0000597	Ophthalmoparesis	5158	PDE6B	ORPHA:791
HP:0000597	Ophthalmoparesis	6102	RP2	ORPHA:791
HP:0000597	Ophthalmoparesis	55857	KIZ	ORPHA:791
HP:0000597	Ophthalmoparesis	64218	SEMA4A	ORPHA:791
HP:0000597	Ophthalmoparesis	4901	NRL	ORPHA:791
HP:0000597	Ophthalmoparesis	157657	CFAP418	ORPHA:791
HP:0000597	Ophthalmoparesis	10594	PRPF8	ORPHA:791
HP:0000597	Ophthalmoparesis	84100	ARL6	ORPHA:791
HP:0000597	Ophthalmoparesis	6295	SAG	ORPHA:791
HP:0000597	Ophthalmoparesis	79947	DHDDS	ORPHA:791
HP:0000597	Ophthalmoparesis	91574	MTRFR	ORPHA:254930
HP:0000597	Ophthalmoparesis	91574	MTRFR	OMIM:613559
HP:0000597	Ophthalmoparesis	91574	MTRFR	ORPHA:320375
HP:0000597	Ophthalmoparesis	8106	PABPN1	ORPHA:270
HP:0000597	Ophthalmoparesis	4723	NDUFV1	OMIM:618225
HP:0000597	Ophthalmoparesis	4723	NDUFV1	ORPHA:255241
HP:0000597	Ophthalmoparesis	1144	CHRND	OMIM:616322
HP:0000597	Ophthalmoparesis	56203	LMOD3	OMIM:616165
HP:0000597	Ophthalmoparesis	56203	LMOD3	ORPHA:171430
HP:0000597	Ophthalmoparesis	4593	MUSK	OMIM:616325
HP:0000597	Ophthalmoparesis	1145	CHRNE	OMIM:616324
HP:0000597	Ophthalmoparesis	4719	NDUFS1	OMIM:618226
HP:0000597	Ophthalmoparesis	4719	NDUFS1	ORPHA:255241
HP:0000597	Ophthalmoparesis	84570	COL25A1	ORPHA:91411
HP:0000597	Ophthalmoparesis	79776	ZFHX4	ORPHA:91411
HP:0000597	Ophthalmoparesis	10479	SLC9A6	OMIM:300243
HP:0000597	Ophthalmoparesis	10479	SLC9A6	ORPHA:85278
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:171433
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:171430
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:2020
HP:0000597	Ophthalmoparesis	4703	NEB	ORPHA:171433
HP:0000597	Ophthalmoparesis	4703	NEB	ORPHA:171430
HP:0000597	Ophthalmoparesis	10324	KLHL41	ORPHA:171433
HP:0000597	Ophthalmoparesis	10324	KLHL41	ORPHA:171430
HP:0000597	Ophthalmoparesis	7170	TPM3	ORPHA:171433
HP:0000597	Ophthalmoparesis	7170	TPM3	ORPHA:2020
HP:0000597	Ophthalmoparesis	7170	TPM3	OMIM:255310
HP:0000597	Ophthalmoparesis	6311	ATXN2	OMIM:183090
HP:0000597	Ophthalmoparesis	131377	KLHL40	ORPHA:171430
HP:0000597	Ophthalmoparesis	4649	MYO9A	OMIM:618198
HP:0000597	Ophthalmoparesis	4649	MYO9A	ORPHA:98914
HP:0000597	Ophthalmoparesis	10059	DNM1L	ORPHA:98673
HP:0000597	Ophthalmoparesis	7259	TSPYL1	ORPHA:168593
HP:0000597	Ophthalmoparesis	4519	MT-CYB	OMIM:540000
HP:0000597	Ophthalmoparesis	4511	MT-TC	OMIM:540000
HP:0000597	Ophthalmoparesis	4577	MT-TV	OMIM:540000
HP:0000597	Ophthalmoparesis	5980	REV3L	ORPHA:570
HP:0000597	Ophthalmoparesis	23129	PLXND1	ORPHA:570
HP:0000597	Ophthalmoparesis	8888	MCM3AP	OMIM:618124
HP:0000597	Ophthalmoparesis	4547	MTTP	ORPHA:14
HP:0000597	Ophthalmoparesis	4620	MYH2	OMIM:605637
HP:0000597	Ophthalmoparesis	343641	TGM6	ORPHA:276193
HP:0000597	Ophthalmoparesis	10367	MICU1	ORPHA:401768
HP:0000597	Ophthalmoparesis	57190	SELENON	ORPHA:2020
HP:0000597	Ophthalmoparesis	4633	MYL2	ORPHA:2020
HP:0000597	Ophthalmoparesis	3679	ITGA7	ORPHA:2020
HP:0000597	Ophthalmoparesis	7169	TPM2	ORPHA:2020
HP:0000597	Ophthalmoparesis	9200	HACD1	ORPHA:2020
HP:0000597	Ophthalmoparesis	51776	MAP3K20	ORPHA:2020
HP:0000597	Ophthalmoparesis	23203	PMPCA	ORPHA:1170
HP:0000597	Ophthalmoparesis	27010	TPK1	OMIM:614458
HP:0000597	Ophthalmoparesis	3752	KCND3	ORPHA:98772
HP:0000597	Ophthalmoparesis	63895	PIEZO2	OMIM:114300
HP:0000597	Ophthalmoparesis	63895	PIEZO2	OMIM:108145
HP:0000597	Ophthalmoparesis	63895	PIEZO2	ORPHA:1154
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:99735
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:99736
HP:0000597	Ophthalmoparesis	493856	CISD2	ORPHA:3463
HP:0000597	Ophthalmoparesis	7466	WFS1	ORPHA:3463
HP:0000597	Ophthalmoparesis	3845	KRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	4893	NRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	3265	HRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	25915	NDUFAF3	ORPHA:70474
HP:0000597	Ophthalmoparesis	4714	NDUFB8	ORPHA:70474
HP:0000597	Ophthalmoparesis	4720	NDUFS2	ORPHA:70474
HP:0000597	Ophthalmoparesis	4720	NDUFS2	ORPHA:255241
HP:0000597	Ophthalmoparesis	9997	SCO2	ORPHA:70474
HP:0000597	Ophthalmoparesis	6834	SURF1	ORPHA:70474
HP:0000597	Ophthalmoparesis	6834	SURF1	ORPHA:255241
HP:0000597	Ophthalmoparesis	6305	SBF1	OMIM:615284
HP:0000597	Ophthalmoparesis	5130	PCYT1A	ORPHA:85167
HP:0000597	Ophthalmoparesis	51816	ADA2	OMIM:615688
HP:0000597	Ophthalmoparesis	79152	FA2H	ORPHA:171629
HP:0000597	Ophthalmoparesis	60482	SLC5A7	ORPHA:98914
HP:0000597	Ophthalmoparesis	1305	COL13A1	ORPHA:98914
HP:0000597	Ophthalmoparesis	1103	CHAT	ORPHA:98914
HP:0000597	Ophthalmoparesis	6576	SLC25A1	ORPHA:98914
HP:0000597	Ophthalmoparesis	6843	VAMP1	ORPHA:98914
HP:0000597	Ophthalmoparesis	375790	AGRN	ORPHA:98914
HP:0000597	Ophthalmoparesis	127833	SYT2	ORPHA:98914
HP:0000597	Ophthalmoparesis	6572	SLC18A3	ORPHA:98914
HP:0000597	Ophthalmoparesis	6572	SLC18A3	OMIM:617239
HP:0000597	Ophthalmoparesis	6616	SNAP25	ORPHA:98914
HP:0000597	Ophthalmoparesis	6389	SDHA	ORPHA:255241
HP:0000597	Ophthalmoparesis	6389	SDHA	OMIM:252011
HP:0000597	Ophthalmoparesis	80704	SLC19A3	ORPHA:255241
HP:0000597	Ophthalmoparesis	91942	NDUFAF2	ORPHA:255241
HP:0000597	Ophthalmoparesis	55572	FOXRED1	ORPHA:255241
HP:0000597	Ophthalmoparesis	4729	NDUFV2	ORPHA:255241
HP:0000597	Ophthalmoparesis	55967	NDUFA12	ORPHA:255241
HP:0000597	Ophthalmoparesis	51204	TACO1	ORPHA:255241
HP:0000597	Ophthalmoparesis	4724	NDUFS4	ORPHA:255241
HP:0000597	Ophthalmoparesis	4728	NDUFS8	ORPHA:255241
HP:0000597	Ophthalmoparesis	137682	NDUFAF6	ORPHA:255241
HP:0000597	Ophthalmoparesis	4722	NDUFS3	ORPHA:255241
HP:0000597	Ophthalmoparesis	79133	NDUFAF5	ORPHA:255241
HP:0000597	Ophthalmoparesis	5160	PDHA1	ORPHA:255241
HP:0000597	Ophthalmoparesis	100131801	PET100	ORPHA:255241
HP:0000597	Ophthalmoparesis	1355	COX15	ORPHA:255241
HP:0000597	Ophthalmoparesis	1892	ECHS1	ORPHA:255241
HP:0000597	Ophthalmoparesis	123263	MTFMT	ORPHA:255241
HP:0000597	Ophthalmoparesis	51079	NDUFA13	ORPHA:255241
HP:0000597	Ophthalmoparesis	374291	NDUFS7	ORPHA:255241
HP:0000597	Ophthalmoparesis	4705	NDUFA10	ORPHA:255241
HP:0000597	Ophthalmoparesis	51601	LIPT1	ORPHA:255241
HP:0000597	Ophthalmoparesis	4695	NDUFA2	ORPHA:255241
HP:0000597	Ophthalmoparesis	4697	NDUFA4	ORPHA:255241
HP:0000597	Ophthalmoparesis	4704	NDUFA9	ORPHA:255241
HP:0000597	Ophthalmoparesis	55739	NAXD	OMIM:618321
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:2072
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:77261
HP:0000597	Ophthalmoparesis	2629	GBA1	OMIM:230900
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:77260
HP:0000597	Ophthalmoparesis	84833	ATP5MK	OMIM:618683
HP:0000597	Ophthalmoparesis	10273	STUB1	ORPHA:412057
HP:0000597	Ophthalmoparesis	779	CACNA1S	OMIM:620246
HP:0000597	Ophthalmoparesis	124454	EARS2	OMIM:614924
HP:0000597	Ophthalmoparesis	6314	ATXN7	ORPHA:94147
HP:0000597	Ophthalmoparesis	54936	ADPRS	OMIM:618170
HP:0000597	Ophthalmoparesis	3908	LAMA2	OMIM:607855
HP:0000597	Ophthalmoparesis	57647	DHX37	OMIM:618731
HP:0000597	Ophthalmoparesis	8803	SUCLA2	OMIM:612073
HP:0000597	Ophthalmoparesis	1140	CHRNB1	OMIM:616313
HP:0000597	Ophthalmoparesis	6310	ATXN1	OMIM:164400
HP:0000597	Ophthalmoparesis	64221	ROBO3	OMIM:607313
HP:0000597	Ophthalmoparesis	8314	BAP1	ORPHA:2495
HP:0000597	Ophthalmoparesis	4771	NF2	ORPHA:2495
HP:0000597	Ophthalmoparesis	6598	SMARCB1	ORPHA:2495
HP:0000597	Ophthalmoparesis	5155	PDGFB	ORPHA:2495
HP:0000597	Ophthalmoparesis	84231	TRAF7	ORPHA:2495
HP:0000597	Ophthalmoparesis	6608	SMO	ORPHA:2495
HP:0000597	Ophthalmoparesis	207	AKT1	ORPHA:2495
HP:0000597	Ophthalmoparesis	5290	PIK3CA	ORPHA:2495
HP:0000597	Ophthalmoparesis	7015	TERT	ORPHA:2495
HP:0000597	Ophthalmoparesis	51684	SUFU	ORPHA:2495
HP:0000597	Ophthalmoparesis	6605	SMARCE1	ORPHA:2495
HP:0000597	Ophthalmoparesis	88	ACTN2	OMIM:618654
HP:0000597	Ophthalmoparesis	6792	CDKL5	ORPHA:3095
HP:0000597	Ophthalmoparesis	22854	NTNG1	ORPHA:3095
HP:0000597	Ophthalmoparesis	9568	GABBR2	ORPHA:3095
HP:0000597	Ophthalmoparesis	4204	MECP2	ORPHA:3095
HP:0000597	Ophthalmoparesis	8243	SMC1A	ORPHA:3095
HP:0000597	Ophthalmoparesis	5428	POLG	OMIM:157640
HP:0000597	Ophthalmoparesis	2902	GRIN1	ORPHA:208447
HP:0000597	Ophthalmoparesis	91147	TMEM67	OMIM:602152
HP:0000597	Ophthalmoparesis	10381	TUBB3	OMIM:600638
HP:0000597	Ophthalmoparesis	401	PHOX2A	OMIM:602078
HP:0000597	Ophthalmoparesis	55605	KIF21A	OMIM:135700
HP:0000597	Ophthalmoparesis	57167	SALL4	ORPHA:233
HP:0000597	Ophthalmoparesis	9935	MAFB	ORPHA:233
HP:0000597	Ophthalmoparesis	1123	CHN1	ORPHA:233
HP:0000597	Ophthalmoparesis	5339	PLEC	ORPHA:257
HP:0000597	Ophthalmoparesis	64072	CDH23	ORPHA:91347
HP:0000597	Ophthalmoparesis	64072	CDH23	ORPHA:2965
HP:0000597	Ophthalmoparesis	59341	TRPV4	OMIM:606071
HP:0000597	Ophthalmoparesis	4221	MEN1	ORPHA:2965
HP:0000597	Ophthalmoparesis	9049	AIP	ORPHA:2965
HP:0000597	Ophthalmoparesis	2475	MTOR	ORPHA:99802
HP:0000597	Ophthalmoparesis	10000	AKT3	ORPHA:99802
HP:0000597	Ophthalmoparesis	54658	UGT1A1	ORPHA:79234
HP:0000597	Ophthalmoparesis	389827	MYMK	OMIM:254940
HP:0000597	Ophthalmoparesis	55901	THSD1	ORPHA:231160
HP:0000597	Ophthalmoparesis	7049	TGFBR3	ORPHA:231160
HP:0000597	Ophthalmoparesis	1281	COL3A1	ORPHA:231160
HP:0000597	Ophthalmoparesis	83854	ANGPTL6	ORPHA:231160
HP:0000597	Ophthalmoparesis	2022	ENG	ORPHA:231160
HP:0000597	Ophthalmoparesis	51241	COX16	OMIM:619355
HP:0008045	Enlarged flash visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0008046	Abnormal retinal vascular morphology	5167	ENPP1	ORPHA:51608
HP:0008046	Abnormal retinal vascular morphology	368	ABCC6	ORPHA:51608
HP:0008046	Abnormal retinal vascular morphology	344	APOC2	OMIM:207750
HP:0008046	Abnormal retinal vascular morphology	2538	G6PC1	OMIM:232200
HP:0008046	Abnormal retinal vascular morphology	338328	GPIHBP1	OMIM:615947
HP:0008046	Abnormal retinal vascular morphology	4023	LPL	OMIM:238600
HP:0008046	Abnormal retinal vascular morphology	2542	SLC37A4	OMIM:232220
HP:0008046	Abnormal retinal vascular morphology	3291	HSD11B2	ORPHA:320
HP:0008046	Abnormal retinal vascular morphology	3291	HSD11B2	OMIM:218030
HP:0008046	Abnormal retinal vascular morphology	7428	VHL	ORPHA:892
HP:0008046	Abnormal retinal vascular morphology	7428	VHL	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	7428	VHL	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	7428	VHL	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	595	CCND1	ORPHA:892
HP:0008046	Abnormal retinal vascular morphology	55654	TMEM127	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	55654	TMEM127	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	5979	RET	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	5979	RET	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	5979	RET	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	6390	SDHB	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	6390	SDHB	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	6390	SDHB	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	6392	SDHD	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	6392	SDHD	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	6392	SDHD	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	4149	MAX	OMIM:171300
HP:0008046	Abnormal retinal vascular morphology	4149	MAX	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	1743	DLST	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	4191	MDH2	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	6389	SDHA	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	23095	KIF1B	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	2271	FH	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	8402	SLC25A11	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	54949	SDHAF2	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	4763	NF1	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	6391	SDHC	ORPHA:29072
HP:0008046	Abnormal retinal vascular morphology	1788	DNMT3A	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	2034	EPAS1	ORPHA:276621
HP:0008046	Abnormal retinal vascular morphology	84168	ANTXR1	OMIM:230740
HP:0008046	Abnormal retinal vascular morphology	6804	STX1A	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	7461	CLIP2	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	8468	FKBP6	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	5982	RFC2	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	2969	GTF2I	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	3984	LIMK1	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	9569	GTF2IRD1	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	155382	VPS37D	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	155368	METTL27	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	114049	BUD23	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	7458	EIF4H	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	84163	GTF2IRD2	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	9275	BCL7B	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	26608	TBL2	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	653361	NCF1	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	135886	TMEM270	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	51085	MLXIPL	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	51085	MLXIPL	OMIM:194050
HP:0008046	Abnormal retinal vascular morphology	9031	BAZ1B	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	2006	ELN	ORPHA:904
HP:0008046	Abnormal retinal vascular morphology	2006	ELN	OMIM:194050
HP:0008046	Abnormal retinal vascular morphology	1312	COMT	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	221037	JMJD1C	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	2812	GP1BB	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	6239	RREB1	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	7290	HIRA	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	9632	SEC24C	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	7353	UFD1	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	421	ARVCF	ORPHA:567
HP:0008046	Abnormal retinal vascular morphology	8322	FZD4	OMIM:133780
HP:0008046	Abnormal retinal vascular morphology	8322	FZD4	ORPHA:891
HP:0008046	Abnormal retinal vascular morphology	4041	LRP5	OMIM:133780
HP:0008046	Abnormal retinal vascular morphology	4041	LRP5	ORPHA:891
HP:0008046	Abnormal retinal vascular morphology	4041	LRP5	OMIM:601813
HP:0008046	Abnormal retinal vascular morphology	1499	CTNNB1	ORPHA:891
HP:0008046	Abnormal retinal vascular morphology	23554	TSPAN12	ORPHA:891
HP:0008046	Abnormal retinal vascular morphology	79797	ZNF408	ORPHA:891
HP:0008046	Abnormal retinal vascular morphology	388015	RTL1	ORPHA:96334
HP:0008046	Abnormal retinal vascular morphology	8788	DLK1	ORPHA:96334
HP:0008046	Abnormal retinal vascular morphology	55384	MEG3	ORPHA:96334
HP:0008046	Abnormal retinal vascular morphology	80169	CTC1	OMIM:612199
HP:0008046	Abnormal retinal vascular morphology	2658	GDF2	ORPHA:774
HP:0008046	Abnormal retinal vascular morphology	94	ACVRL1	ORPHA:774
HP:0008046	Abnormal retinal vascular morphology	4089	SMAD4	ORPHA:774
HP:0008046	Abnormal retinal vascular morphology	2022	ENG	ORPHA:774
HP:0008046	Abnormal retinal vascular morphology	2483	FRG1	OMIM:158900
HP:0008046	Abnormal retinal vascular morphology	29072	SETD2	OMIM:620157
HP:0008046	Abnormal retinal vascular morphology	29072	SETD2	OMIM:620155
HP:0008046	Abnormal retinal vascular morphology	79991	STN1	OMIM:617341
HP:0008046	Abnormal retinal vascular morphology	5111	PCNA	ORPHA:438134
HP:0008046	Abnormal retinal vascular morphology	4750	NEK1	ORPHA:2751
HP:0008046	Abnormal retinal vascular morphology	7399	USH2A	OMIM:613809
HP:0008046	Abnormal retinal vascular morphology	7401	CLRN1	OMIM:614180
HP:0008046	Abnormal retinal vascular morphology	10594	PRPF8	OMIM:600059
HP:0008046	Abnormal retinal vascular morphology	25794	FSCN2	OMIM:607921
HP:0008046	Abnormal retinal vascular morphology	1121	CHM	OMIM:303100
HP:0008046	Abnormal retinal vascular morphology	4117	MAK	OMIM:614181
HP:0008046	Abnormal retinal vascular morphology	9785	DHX38	OMIM:618220
HP:0008046	Abnormal retinal vascular morphology	54903	MKS1	OMIM:615990
HP:0008046	Abnormal retinal vascular morphology	157657	CFAP418	OMIM:614500
HP:0008046	Abnormal retinal vascular morphology	94137	RP1L1	OMIM:618826
HP:0008046	Abnormal retinal vascular morphology	2677	GGCX	ORPHA:436274
HP:0008046	Abnormal retinal vascular morphology	3035	HARS1	OMIM:614504
HP:0008046	Abnormal retinal vascular morphology	6010	RHO	OMIM:613731
HP:0008046	Abnormal retinal vascular morphology	6010	RHO	ORPHA:52427
HP:0008046	Abnormal retinal vascular morphology	5145	PDE6A	OMIM:613810
HP:0008046	Abnormal retinal vascular morphology	84839	RAX2	OMIM:620102
HP:0008046	Abnormal retinal vascular morphology	130557	ZNF513	OMIM:613617
HP:0008046	Abnormal retinal vascular morphology	25914	RTTN	ORPHA:468631
HP:0008046	Abnormal retinal vascular morphology	5961	PRPH2	OMIM:608133
HP:0008046	Abnormal retinal vascular morphology	5961	PRPH2	ORPHA:52427
HP:0008046	Abnormal retinal vascular morphology	6094	ROM1	OMIM:608133
HP:0008046	Abnormal retinal vascular morphology	80781	COL18A1	OMIM:267750
HP:0008046	Abnormal retinal vascular morphology	49855	SCAPER	OMIM:618195
HP:0008046	Abnormal retinal vascular morphology	6101	RP1	OMIM:180100
HP:0008046	Abnormal retinal vascular morphology	3000	GUCY2D	OMIM:601777
HP:0008046	Abnormal retinal vascular morphology	3000	GUCY2D	OMIM:204000
HP:0008046	Abnormal retinal vascular morphology	6017	RLBP1	ORPHA:52427
HP:0008046	Abnormal retinal vascular morphology	5959	RDH5	ORPHA:52427
HP:0008046	Abnormal retinal vascular morphology	9227	LRAT	ORPHA:364055
HP:0008046	Abnormal retinal vascular morphology	55812	SPATA7	ORPHA:364055
HP:0008046	Abnormal retinal vascular morphology	6121	RPE65	ORPHA:364055
HP:0008046	Abnormal retinal vascular morphology	6121	RPE65	OMIM:204100
HP:0008046	Abnormal retinal vascular morphology	6121	RPE65	OMIM:613794
HP:0008046	Abnormal retinal vascular morphology	167691	LCA5	ORPHA:364055
HP:0008046	Abnormal retinal vascular morphology	9742	IFT140	OMIM:617781
HP:0008046	Abnormal retinal vascular morphology	9742	IFT140	OMIM:266920
HP:0008046	Abnormal retinal vascular morphology	64801	ARV1	OMIM:617020
HP:0008046	Abnormal retinal vascular morphology	3098	HK1	OMIM:617460
HP:0008046	Abnormal retinal vascular morphology	50939	IMPG2	OMIM:613581
HP:0008046	Abnormal retinal vascular morphology	8842	PROM1	OMIM:612095
HP:0008046	Abnormal retinal vascular morphology	92211	CDHR1	OMIM:613660
HP:0008046	Abnormal retinal vascular morphology	5148	PDE6G	OMIM:613582
HP:0008046	Abnormal retinal vascular morphology	60509	AGBL5	OMIM:617023
HP:0008046	Abnormal retinal vascular morphology	755	CFAP410	OMIM:617547
HP:0008046	Abnormal retinal vascular morphology	123016	TTC8	OMIM:613464
HP:0008046	Abnormal retinal vascular morphology	3420	IDH3B	OMIM:612572
HP:0008046	Abnormal retinal vascular morphology	24148	PRPF6	OMIM:613983
HP:0008046	Abnormal retinal vascular morphology	92840	REEP6	OMIM:617304
HP:0008046	Abnormal retinal vascular morphology	9128	PRPF4	OMIM:615922
HP:0008046	Abnormal retinal vascular morphology	3419	IDH3A	OMIM:619007
HP:0008046	Abnormal retinal vascular morphology	85015	USP45	OMIM:618513
HP:0008046	Abnormal retinal vascular morphology	768206	PRCD	OMIM:610599
HP:0008046	Abnormal retinal vascular morphology	388939	PCARE	OMIM:613428
HP:0008046	Abnormal retinal vascular morphology	23020	SNRNP200	OMIM:610359
HP:0008046	Abnormal retinal vascular morphology	57096	RPGRIP1	OMIM:613826
HP:0008046	Abnormal retinal vascular morphology	6742	SSBP1	OMIM:165510
HP:0008046	Abnormal retinal vascular morphology	346007	EYS	OMIM:602772
HP:0008046	Abnormal retinal vascular morphology	3105	HLA-A	ORPHA:179
HP:0008046	Abnormal retinal vascular morphology	10210	TOPORS	OMIM:609923
HP:0008046	Abnormal retinal vascular morphology	22926	ATF6	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	5146	PDE6C	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	6103	RPGR	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	5149	PDE6H	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	2780	GNAT2	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	1261	CNGA3	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	54714	CNGB3	ORPHA:49382
HP:0008046	Abnormal retinal vascular morphology	24	ABCA4	OMIM:604116
HP:0008046	Abnormal retinal vascular morphology	24	ABCA4	OMIM:601718
HP:0008046	Abnormal retinal vascular morphology	83723	TLCD3B	OMIM:619531
HP:0008046	Abnormal retinal vascular morphology	112752	IFT43	OMIM:617871
HP:0008046	Abnormal retinal vascular morphology	7275	TUB	OMIM:616188
HP:0008046	Abnormal retinal vascular morphology	64218	SEMA4A	OMIM:610283
HP:0008046	Abnormal retinal vascular morphology	4901	NRL	OMIM:613750
HP:0008046	Abnormal retinal vascular morphology	9187	SLC24A1	OMIM:613830
HP:0008046	Abnormal retinal vascular morphology	1259	CNGA1	OMIM:613756
HP:0008046	Abnormal retinal vascular morphology	51109	RDH11	OMIM:616108
HP:0008046	Abnormal retinal vascular morphology	84100	ARL6	OMIM:209900
HP:0008046	Abnormal retinal vascular morphology	79140	CCDC28B	OMIM:209900
HP:0008046	Abnormal retinal vascular morphology	582	BBS1	OMIM:209900
HP:0008046	Abnormal retinal vascular morphology	26504	CNNM4	OMIM:217080
HP:0008046	Abnormal retinal vascular morphology	6533	SLC6A6	OMIM:145350
HP:0008046	Abnormal retinal vascular morphology	64802	NMNAT1	OMIM:608553
HP:0008046	Abnormal retinal vascular morphology	64802	NMNAT1	OMIM:619260
HP:0008046	Abnormal retinal vascular morphology	2072	ERCC4	OMIM:610965
HP:0008046	Abnormal retinal vascular morphology	23746	AIPL1	OMIM:604393
HP:0008046	Abnormal retinal vascular morphology	3614	IMPDH1	OMIM:180105
HP:0008046	Abnormal retinal vascular morphology	403	ARL3	OMIM:618173
HP:0008046	Abnormal retinal vascular morphology	23418	CRB1	OMIM:600105
HP:0008046	Abnormal retinal vascular morphology	23155	CLCC1	OMIM:609913
HP:0008046	Abnormal retinal vascular morphology	116150	NUS1	OMIM:617082
HP:0008046	Abnormal retinal vascular morphology	8481	OFD1	OMIM:300424
HP:0008046	Abnormal retinal vascular morphology	2257	FGF12	OMIM:617166
HP:0008046	Abnormal retinal vascular morphology	57728	WDR19	OMIM:614376
HP:0008046	Abnormal retinal vascular morphology	375298	CERKL	OMIM:608380
HP:0008046	Abnormal retinal vascular morphology	4598	MVK	OMIM:610377
HP:0008046	Abnormal retinal vascular morphology	27241	BBS9	OMIM:615986
HP:0008046	Abnormal retinal vascular morphology	57670	KIAA1549	OMIM:618613
HP:0008046	Abnormal retinal vascular morphology	7287	TULP1	OMIM:613843
HP:0008046	Abnormal retinal vascular morphology	5995	RGR	OMIM:613769
HP:0008046	Abnormal retinal vascular morphology	5158	PDE6B	OMIM:613801
HP:0008046	Abnormal retinal vascular morphology	145226	RDH12	OMIM:612712
HP:0008046	Abnormal retinal vascular morphology	28982	FLVCR1	OMIM:609033
HP:0008046	Abnormal retinal vascular morphology	8517	IKBKG	ORPHA:464
HP:0008046	Abnormal retinal vascular morphology	8517	IKBKG	OMIM:308300
HP:0008046	Abnormal retinal vascular morphology	2161	F12	ORPHA:330
HP:0008046	Abnormal retinal vascular morphology	7439	BEST1	OMIM:193220
HP:0008046	Abnormal retinal vascular morphology	9129	PRPF3	OMIM:601414
HP:0008046	Abnormal retinal vascular morphology	4615	MYD88	ORPHA:33226
HP:0008046	Abnormal retinal vascular morphology	23568	ARL2BP	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	54806	AHI1	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	4751	NEK2	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	8100	IFT88	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	762	CA4	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	138050	HGSNAT	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	196	AHR	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	1406	CRX	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	26121	PRPF31	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	583	BBS2	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	10461	MERTK	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	57709	SLC7A14	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	23370	ARHGEF18	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	5949	RBP3	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	6100	RP9	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	10002	NR2E3	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	84140	FAM161A	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	55624	POMGNT1	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	2979	GUCA1B	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	1258	CNGB1	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	55975	KLHL7	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	3617	IMPG1	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	6102	RP2	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	55857	KIZ	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	6295	SAG	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	79947	DHDDS	ORPHA:791
HP:0008046	Abnormal retinal vascular morphology	1593	CYP27A1	ORPHA:909
HP:0008046	Abnormal retinal vascular morphology	64127	NOD2	ORPHA:90340
HP:0008046	Abnormal retinal vascular morphology	22947	DUX4L1	ORPHA:269
HP:0008046	Abnormal retinal vascular morphology	1789	DNMT3B	ORPHA:269
HP:0008046	Abnormal retinal vascular morphology	23347	SMCHD1	ORPHA:269
HP:0008046	Abnormal retinal vascular morphology	100288687	DUX4	ORPHA:269
HP:0008046	Abnormal retinal vascular morphology	1188	CLCNKB	OMIM:607364
HP:0008046	Abnormal retinal vascular morphology	2776	GNAQ	ORPHA:3205
HP:0008046	Abnormal retinal vascular morphology	427	ASAH1	ORPHA:333
HP:0008046	Abnormal retinal vascular morphology	427	ASAH1	OMIM:228000
HP:0008046	Abnormal retinal vascular morphology	5476	CTSA	ORPHA:351
HP:0008046	Abnormal retinal vascular morphology	5476	CTSA	OMIM:256540
HP:0008046	Abnormal retinal vascular morphology	6609	SMPD1	ORPHA:77293
HP:0008046	Abnormal retinal vascular morphology	6609	SMPD1	OMIM:257200
HP:0008046	Abnormal retinal vascular morphology	3074	HEXB	ORPHA:309155
HP:0008046	Abnormal retinal vascular morphology	3074	HEXB	OMIM:268800
HP:0008046	Abnormal retinal vascular morphology	2720	GLB1	OMIM:230500
HP:0008046	Abnormal retinal vascular morphology	2720	GLB1	OMIM:230650
HP:0008046	Abnormal retinal vascular morphology	2720	GLB1	ORPHA:79255
HP:0008046	Abnormal retinal vascular morphology	2581	GALC	ORPHA:206436
HP:0008046	Abnormal retinal vascular morphology	5660	PSAP	ORPHA:206436
HP:0008046	Abnormal retinal vascular morphology	4758	NEU1	OMIM:256550
HP:0008046	Abnormal retinal vascular morphology	4758	NEU1	ORPHA:93399
HP:0008046	Abnormal retinal vascular morphology	4758	NEU1	ORPHA:812
HP:0008046	Abnormal retinal vascular morphology	4758	NEU1	ORPHA:93400
HP:0008046	Abnormal retinal vascular morphology	79583	TMEM231	ORPHA:2752
HP:0008046	Abnormal retinal vascular morphology	3073	HEXA	OMIM:272800
HP:0008046	Abnormal retinal vascular morphology	1615	DARS1	OMIM:615281
HP:0008046	Abnormal retinal vascular morphology	2760	GM2A	ORPHA:309246
HP:0008046	Abnormal retinal vascular morphology	10730	YME1L1	OMIM:617302
HP:0008046	Abnormal retinal vascular morphology	11235	PDCD10	ORPHA:221061
HP:0008046	Abnormal retinal vascular morphology	83605	CCM2	ORPHA:221061
HP:0008046	Abnormal retinal vascular morphology	889	KRIT1	ORPHA:221061
HP:0008046	Abnormal retinal vascular morphology	4016	LOXL1	OMIM:177650
HP:0008046	Abnormal retinal vascular morphology	462	SERPINC1	ORPHA:82
HP:0008046	Abnormal retinal vascular morphology	2202	EFEMP1	ORPHA:98977
HP:0008046	Abnormal retinal vascular morphology	1545	CYP1B1	ORPHA:98977
HP:0008046	Abnormal retinal vascular morphology	4653	MYOC	ORPHA:98977
HP:0008046	Abnormal retinal vascular morphology	23474	ETHE1	ORPHA:51188
HP:0008046	Abnormal retinal vascular morphology	26160	IFT172	OMIM:619471
HP:0008046	Abnormal retinal vascular morphology	1282	COL4A1	ORPHA:73229
HP:0008046	Abnormal retinal vascular morphology	9993	DGCR2	OMIM:192430
HP:0008046	Abnormal retinal vascular morphology	8220	ESS2	OMIM:192430
HP:0008046	Abnormal retinal vascular morphology	8214	DGCR6	OMIM:192430
HP:0008046	Abnormal retinal vascular morphology	54487	DGCR8	OMIM:192430
HP:0008046	Abnormal retinal vascular morphology	6899	TBX1	OMIM:192430
HP:0008046	Abnormal retinal vascular morphology	85465	SELENOI	OMIM:618768
HP:0008046	Abnormal retinal vascular morphology	1063	CENPF	OMIM:243605
HP:0008046	Abnormal retinal vascular morphology	3913	LAMB2	OMIM:609049
HP:0008046	Abnormal retinal vascular morphology	84277	DNAJC30	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4535	MT-ND1	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4536	MT-ND2	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4538	MT-ND4	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4720	NDUFS2	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4512	MT-CO1	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4514	MT-CO3	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4519	MT-CYB	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4508	MT-ATP6	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4540	MT-ND5	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4541	MT-ND6	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	4539	MT-ND4L	ORPHA:104
HP:0008046	Abnormal retinal vascular morphology	7490	WT1	OMIM:106210
HP:0008046	Abnormal retinal vascular morphology	5080	PAX6	OMIM:106210
HP:0008046	Abnormal retinal vascular morphology	4693	NDP	OMIM:305390
HP:0008046	Abnormal retinal vascular morphology	10625	IVNS1ABP	OMIM:618969
HP:0008046	Abnormal retinal vascular morphology	3932	LCK	OMIM:615758
HP:0008046	Abnormal retinal vascular morphology	3490	IGFBP7	OMIM:614224
HP:0008046	Abnormal retinal vascular morphology	2615	LRRC32	OMIM:619074
HP:0008046	Abnormal retinal vascular morphology	11277	TREX1	ORPHA:247691
HP:0008046	Abnormal retinal vascular morphology	726	CAPN5	OMIM:193235
HP:0008047	Abnormality of the vasculature of the eye	2517	FUCA1	OMIM:230000
HP:0008047	Abnormality of the vasculature of the eye	55129	ANO10	ORPHA:284289
HP:0008047	Abnormality of the vasculature of the eye	55129	ANO10	OMIM:613728
HP:0008047	Abnormality of the vasculature of the eye	4668	NAGA	OMIM:609242
HP:0008047	Abnormality of the vasculature of the eye	4126	MANBA	OMIM:248510
HP:0008047	Abnormality of the vasculature of the eye	695	BTK	OMIM:300755
HP:0008047	Abnormality of the vasculature of the eye	695	BTK	ORPHA:47
HP:0008047	Abnormality of the vasculature of the eye	695	BTK	OMIM:307200
HP:0008047	Abnormality of the vasculature of the eye	930	CD19	OMIM:613493
HP:0008047	Abnormality of the vasculature of the eye	930	CD19	OMIM:240500
HP:0008047	Abnormality of the vasculature of the eye	987	LRBA	OMIM:614700
HP:0008047	Abnormality of the vasculature of the eye	7454	WAS	ORPHA:906
HP:0008047	Abnormality of the vasculature of the eye	7456	WIPF1	ORPHA:906
HP:0008047	Abnormality of the vasculature of the eye	1736	DKC1	OMIM:305000
HP:0008047	Abnormality of the vasculature of the eye	1776	DNASE1L3	ORPHA:36412
HP:0008047	Abnormality of the vasculature of the eye	2778	GNAS	ORPHA:94089
HP:0008047	Abnormality of the vasculature of the eye	2778	GNAS	ORPHA:79443
HP:0008047	Abnormality of the vasculature of the eye	2778	GNAS	ORPHA:79444
HP:0008047	Abnormality of the vasculature of the eye	8675	STX16	ORPHA:94089
HP:0008047	Abnormality of the vasculature of the eye	79650	USB1	OMIM:604173
HP:0008047	Abnormality of the vasculature of the eye	2067	ERCC1	ORPHA:90322
HP:0008047	Abnormality of the vasculature of the eye	3507	IGHM	OMIM:601495
HP:0008047	Abnormality of the vasculature of the eye	3507	IGHM	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	55630	SLC39A4	ORPHA:37
HP:0008047	Abnormality of the vasculature of the eye	8676	STX11	OMIM:603552
HP:0008047	Abnormality of the vasculature of the eye	51360	MBTPS2	OMIM:308800
HP:0008047	Abnormality of the vasculature of the eye	51360	MBTPS2	ORPHA:2273
HP:0008047	Abnormality of the vasculature of the eye	5896	RAG1	OMIM:601457
HP:0008047	Abnormality of the vasculature of the eye	5897	RAG2	OMIM:601457
HP:0008047	Abnormality of the vasculature of the eye	1294	COL7A1	OMIM:226600
HP:0008047	Abnormality of the vasculature of the eye	4312	MMP1	OMIM:226600
HP:0008047	Abnormality of the vasculature of the eye	162	AP1B1	OMIM:242150
HP:0008047	Abnormality of the vasculature of the eye	5075	PAX1	OMIM:615560
HP:0008047	Abnormality of the vasculature of the eye	974	CD79B	OMIM:612692
HP:0008047	Abnormality of the vasculature of the eye	974	CD79B	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	5429	POLH	OMIM:278750
HP:0008047	Abnormality of the vasculature of the eye	5340	PLG	OMIM:217090
HP:0008047	Abnormality of the vasculature of the eye	7086	TKT	ORPHA:488618
HP:0008047	Abnormality of the vasculature of the eye	29851	ICOS	OMIM:607594
HP:0008047	Abnormality of the vasculature of the eye	29851	ICOS	OMIM:240500
HP:0008047	Abnormality of the vasculature of the eye	65082	VPS33A	ORPHA:505248
HP:0008047	Abnormality of the vasculature of the eye	10320	IKZF1	ORPHA:36426
HP:0008047	Abnormality of the vasculature of the eye	23495	TNFRSF13B	OMIM:240500
HP:0008047	Abnormality of the vasculature of the eye	115650	TNFRSF13C	OMIM:240500
HP:0008047	Abnormality of the vasculature of the eye	1380	CR2	OMIM:240500
HP:0008047	Abnormality of the vasculature of the eye	55612	FERMT1	ORPHA:2908
HP:0008047	Abnormality of the vasculature of the eye	5692	PSMB4	OMIM:617591
HP:0008047	Abnormality of the vasculature of the eye	5698	PSMB9	OMIM:617591
HP:0008047	Abnormality of the vasculature of the eye	7037	TFRC	OMIM:616740
HP:0008047	Abnormality of the vasculature of the eye	7994	KAT6A	OMIM:616268
HP:0008047	Abnormality of the vasculature of the eye	686	BTD	OMIM:253260
HP:0008047	Abnormality of the vasculature of the eye	686	BTD	ORPHA:79241
HP:0008047	Abnormality of the vasculature of the eye	2077	ERF	ORPHA:207
HP:0008047	Abnormality of the vasculature of the eye	2303	FOXC2	ORPHA:33001
HP:0008047	Abnormality of the vasculature of the eye	2303	FOXC2	OMIM:153400
HP:0008047	Abnormality of the vasculature of the eye	54809	SAMD9	OMIM:610455
HP:0008047	Abnormality of the vasculature of the eye	5696	PSMB8	OMIM:256040
HP:0008047	Abnormality of the vasculature of the eye	3321	IGSF3	OMIM:149700
HP:0008047	Abnormality of the vasculature of the eye	6929	TCF3	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	973	CD79A	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	3543	IGLL1	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	29760	BLNK	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	5295	PIK3R1	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	56262	LRRC8A	ORPHA:33110
HP:0008047	Abnormality of the vasculature of the eye	3978	LIG1	OMIM:619774
HP:0008047	Abnormality of the vasculature of the eye	23328	SASH1	OMIM:618373
HP:0008047	Abnormality of the vasculature of the eye	4683	NBN	OMIM:251260
HP:0008047	Abnormality of the vasculature of the eye	5648	MASP1	OMIM:257920
HP:0008047	Abnormality of the vasculature of the eye	472	ATM	OMIM:208900
HP:0008047	Abnormality of the vasculature of the eye	23064	SETX	OMIM:606002
HP:0008047	Abnormality of the vasculature of the eye	5190	PEX6	ORPHA:95433
HP:0008047	Abnormality of the vasculature of the eye	165918	RNF168	ORPHA:420741
HP:0008047	Abnormality of the vasculature of the eye	2717	GLA	ORPHA:324
HP:0008047	Abnormality of the vasculature of the eye	7507	XPA	ORPHA:910
HP:0008047	Abnormality of the vasculature of the eye	7508	XPC	ORPHA:910
HP:0008047	Abnormality of the vasculature of the eye	1643	DDB2	ORPHA:910
HP:0008047	Abnormality of the vasculature of the eye	2073	ERCC5	ORPHA:910
HP:0008047	Abnormality of the vasculature of the eye	5167	ENPP1	ORPHA:51608
HP:0008047	Abnormality of the vasculature of the eye	368	ABCC6	ORPHA:51608
HP:0008047	Abnormality of the vasculature of the eye	344	APOC2	OMIM:207750
HP:0008047	Abnormality of the vasculature of the eye	2538	G6PC1	OMIM:232200
HP:0008047	Abnormality of the vasculature of the eye	338328	GPIHBP1	OMIM:615947
HP:0008047	Abnormality of the vasculature of the eye	4023	LPL	OMIM:238600
HP:0008047	Abnormality of the vasculature of the eye	2542	SLC37A4	OMIM:232220
HP:0008047	Abnormality of the vasculature of the eye	3291	HSD11B2	ORPHA:320
HP:0008047	Abnormality of the vasculature of the eye	3291	HSD11B2	OMIM:218030
HP:0008047	Abnormality of the vasculature of the eye	7428	VHL	ORPHA:892
HP:0008047	Abnormality of the vasculature of the eye	7428	VHL	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	7428	VHL	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	7428	VHL	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	595	CCND1	ORPHA:892
HP:0008047	Abnormality of the vasculature of the eye	55654	TMEM127	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	55654	TMEM127	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	5979	RET	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	5979	RET	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	5979	RET	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	6390	SDHB	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	6390	SDHB	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	6390	SDHB	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	6392	SDHD	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	6392	SDHD	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	6392	SDHD	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	4149	MAX	OMIM:171300
HP:0008047	Abnormality of the vasculature of the eye	4149	MAX	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	1743	DLST	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	4191	MDH2	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	6389	SDHA	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	23095	KIF1B	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	2271	FH	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	8402	SLC25A11	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	54949	SDHAF2	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	4763	NF1	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	6391	SDHC	ORPHA:29072
HP:0008047	Abnormality of the vasculature of the eye	1788	DNMT3A	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	2034	EPAS1	ORPHA:276621
HP:0008047	Abnormality of the vasculature of the eye	6720	SREBF1	OMIM:158310
HP:0008047	Abnormality of the vasculature of the eye	2263	FGFR2	ORPHA:2363
HP:0008047	Abnormality of the vasculature of the eye	2261	FGFR3	ORPHA:2363
HP:0008047	Abnormality of the vasculature of the eye	2255	FGF10	ORPHA:2363
HP:0008047	Abnormality of the vasculature of the eye	3141	HLCS	ORPHA:79242
HP:0008047	Abnormality of the vasculature of the eye	7390	UROS	ORPHA:79277
HP:0008047	Abnormality of the vasculature of the eye	2623	GATA1	ORPHA:79277
HP:0008047	Abnormality of the vasculature of the eye	326	AIRE	OMIM:240300
HP:0008047	Abnormality of the vasculature of the eye	7389	UROD	ORPHA:95159
HP:0008047	Abnormality of the vasculature of the eye	6335	SCN9A	OMIM:133020
HP:0008047	Abnormality of the vasculature of the eye	10804	GJB6	ORPHA:477
HP:0008047	Abnormality of the vasculature of the eye	2706	GJB2	ORPHA:477
HP:0008047	Abnormality of the vasculature of the eye	2706	GJB2	OMIM:148210
HP:0008047	Abnormality of the vasculature of the eye	54941	RNF125	OMIM:616260
HP:0008047	Abnormality of the vasculature of the eye	55699	IARS2	OMIM:616007
HP:0008047	Abnormality of the vasculature of the eye	1161	ERCC8	ORPHA:90324
HP:0008047	Abnormality of the vasculature of the eye	2074	ERCC6	ORPHA:90324
HP:0008047	Abnormality of the vasculature of the eye	404672	GTF2H5	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	833	CARS1	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	2068	ERCC2	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	2068	ERCC2	OMIM:601675
HP:0008047	Abnormality of the vasculature of the eye	2068	ERCC2	OMIM:278730
HP:0008047	Abnormality of the vasculature of the eye	7737	RNF113A	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	136647	MPLKIP	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	136647	MPLKIP	OMIM:234050
HP:0008047	Abnormality of the vasculature of the eye	6897	TARS1	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	2071	ERCC3	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	2961	GTF2E2	ORPHA:33364
HP:0008047	Abnormality of the vasculature of the eye	1308	COL17A1	ORPHA:293381
HP:0008047	Abnormality of the vasculature of the eye	4547	MTTP	ORPHA:14
HP:0008047	Abnormality of the vasculature of the eye	2934	GSN	ORPHA:85448
HP:0008047	Abnormality of the vasculature of the eye	22861	NLRP1	OMIM:617388
HP:0008047	Abnormality of the vasculature of the eye	64127	NOD2	OMIM:617321
HP:0008047	Abnormality of the vasculature of the eye	4081	MAB21L1	OMIM:618479
HP:0008047	Abnormality of the vasculature of the eye	3930	LBR	ORPHA:779
HP:0008047	Abnormality of the vasculature of the eye	2200	FBN1	OMIM:616914
HP:0008047	Abnormality of the vasculature of the eye	165	AEBP1	ORPHA:536532
HP:0008047	Abnormality of the vasculature of the eye	56244	BTNL2	ORPHA:797
HP:0008047	Abnormality of the vasculature of the eye	3123	HLA-DRB1	ORPHA:797
HP:0008047	Abnormality of the vasculature of the eye	149233	IL23R	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	6775	STAT4	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	3586	IL10	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	4210	MEFV	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	1230	CCR1	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	355	FAS	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	3592	IL12A	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	101928376	IL12A-AS1	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	3106	HLA-B	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	7099	TLR4	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	3459	IFNGR1	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	720	C4A	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	337867	UBAC2	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	51752	ERAP1	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	8302	KLRC4	ORPHA:117
HP:0008047	Abnormality of the vasculature of the eye	84168	ANTXR1	OMIM:230740
HP:0008047	Abnormality of the vasculature of the eye	1282	COL4A1	OMIM:180000
HP:0008047	Abnormality of the vasculature of the eye	1282	COL4A1	OMIM:611773
HP:0008047	Abnormality of the vasculature of the eye	1282	COL4A1	OMIM:175780
HP:0008047	Abnormality of the vasculature of the eye	6804	STX1A	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	7461	CLIP2	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	8468	FKBP6	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	5982	RFC2	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	2969	GTF2I	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	3984	LIMK1	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	9569	GTF2IRD1	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	155382	VPS37D	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	155368	METTL27	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	114049	BUD23	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	7458	EIF4H	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	84163	GTF2IRD2	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	9275	BCL7B	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	26608	TBL2	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	653361	NCF1	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	135886	TMEM270	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	51085	MLXIPL	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	51085	MLXIPL	OMIM:194050
HP:0008047	Abnormality of the vasculature of the eye	9031	BAZ1B	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	2006	ELN	ORPHA:904
HP:0008047	Abnormality of the vasculature of the eye	2006	ELN	OMIM:194050
HP:0008047	Abnormality of the vasculature of the eye	1312	COMT	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	221037	JMJD1C	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	2812	GP1BB	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	6239	RREB1	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	6899	TBX1	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	7290	HIRA	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	9632	SEC24C	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	7353	UFD1	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	421	ARVCF	ORPHA:567
HP:0008047	Abnormality of the vasculature of the eye	8322	FZD4	OMIM:133780
HP:0008047	Abnormality of the vasculature of the eye	8322	FZD4	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	4041	LRP5	OMIM:133780
HP:0008047	Abnormality of the vasculature of the eye	4041	LRP5	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	4041	LRP5	OMIM:601813
HP:0008047	Abnormality of the vasculature of the eye	4693	NDP	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	4693	NDP	OMIM:305390
HP:0008047	Abnormality of the vasculature of the eye	1499	CTNNB1	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	23554	TSPAN12	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	79797	ZNF408	ORPHA:891
HP:0008047	Abnormality of the vasculature of the eye	388015	RTL1	ORPHA:96334
HP:0008047	Abnormality of the vasculature of the eye	8788	DLK1	ORPHA:96334
HP:0008047	Abnormality of the vasculature of the eye	55384	MEG3	ORPHA:96334
HP:0008047	Abnormality of the vasculature of the eye	8626	TP63	ORPHA:69085
HP:0008047	Abnormality of the vasculature of the eye	80169	CTC1	OMIM:612199
HP:0008047	Abnormality of the vasculature of the eye	2658	GDF2	ORPHA:774
HP:0008047	Abnormality of the vasculature of the eye	94	ACVRL1	ORPHA:774
HP:0008047	Abnormality of the vasculature of the eye	4089	SMAD4	ORPHA:774
HP:0008047	Abnormality of the vasculature of the eye	2022	ENG	ORPHA:774
HP:0008047	Abnormality of the vasculature of the eye	84277	DNAJC30	OMIM:619382
HP:0008047	Abnormality of the vasculature of the eye	84277	DNAJC30	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	2483	FRG1	OMIM:158900
HP:0008047	Abnormality of the vasculature of the eye	29072	SETD2	OMIM:620157
HP:0008047	Abnormality of the vasculature of the eye	29072	SETD2	OMIM:620155
HP:0008047	Abnormality of the vasculature of the eye	79991	STN1	OMIM:617341
HP:0008047	Abnormality of the vasculature of the eye	5111	PCNA	ORPHA:438134
HP:0008047	Abnormality of the vasculature of the eye	4535	MT-ND1	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4536	MT-ND2	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4538	MT-ND4	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4720	NDUFS2	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4512	MT-CO1	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4514	MT-CO3	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4519	MT-CYB	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4508	MT-ATP6	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4540	MT-ND5	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4541	MT-ND6	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	4539	MT-ND4L	ORPHA:104
HP:0008047	Abnormality of the vasculature of the eye	85465	SELENOI	ORPHA:506353
HP:0008047	Abnormality of the vasculature of the eye	4750	NEK1	ORPHA:2751
HP:0008047	Abnormality of the vasculature of the eye	889	KRIT1	OMIM:116860
HP:0008047	Abnormality of the vasculature of the eye	7399	USH2A	OMIM:613809
HP:0008047	Abnormality of the vasculature of the eye	7401	CLRN1	OMIM:614180
HP:0008047	Abnormality of the vasculature of the eye	10594	PRPF8	OMIM:600059
HP:0008047	Abnormality of the vasculature of the eye	25794	FSCN2	OMIM:607921
HP:0008047	Abnormality of the vasculature of the eye	1121	CHM	OMIM:303100
HP:0008047	Abnormality of the vasculature of the eye	4117	MAK	OMIM:614181
HP:0008047	Abnormality of the vasculature of the eye	9785	DHX38	OMIM:618220
HP:0008047	Abnormality of the vasculature of the eye	54903	MKS1	OMIM:615990
HP:0008047	Abnormality of the vasculature of the eye	157657	CFAP418	OMIM:614500
HP:0008047	Abnormality of the vasculature of the eye	94137	RP1L1	OMIM:618826
HP:0008047	Abnormality of the vasculature of the eye	2677	GGCX	ORPHA:436274
HP:0008047	Abnormality of the vasculature of the eye	3035	HARS1	OMIM:614504
HP:0008047	Abnormality of the vasculature of the eye	6010	RHO	OMIM:613731
HP:0008047	Abnormality of the vasculature of the eye	6010	RHO	ORPHA:52427
HP:0008047	Abnormality of the vasculature of the eye	5145	PDE6A	OMIM:613810
HP:0008047	Abnormality of the vasculature of the eye	84839	RAX2	OMIM:620102
HP:0008047	Abnormality of the vasculature of the eye	130557	ZNF513	OMIM:613617
HP:0008047	Abnormality of the vasculature of the eye	25914	RTTN	ORPHA:468631
HP:0008047	Abnormality of the vasculature of the eye	5961	PRPH2	OMIM:608133
HP:0008047	Abnormality of the vasculature of the eye	5961	PRPH2	ORPHA:52427
HP:0008047	Abnormality of the vasculature of the eye	6094	ROM1	OMIM:608133
HP:0008047	Abnormality of the vasculature of the eye	80781	COL18A1	OMIM:267750
HP:0008047	Abnormality of the vasculature of the eye	49855	SCAPER	OMIM:618195
HP:0008047	Abnormality of the vasculature of the eye	6101	RP1	OMIM:180100
HP:0008047	Abnormality of the vasculature of the eye	3000	GUCY2D	OMIM:601777
HP:0008047	Abnormality of the vasculature of the eye	3000	GUCY2D	OMIM:204000
HP:0008047	Abnormality of the vasculature of the eye	6017	RLBP1	ORPHA:52427
HP:0008047	Abnormality of the vasculature of the eye	5959	RDH5	ORPHA:52427
HP:0008047	Abnormality of the vasculature of the eye	9227	LRAT	ORPHA:364055
HP:0008047	Abnormality of the vasculature of the eye	55812	SPATA7	ORPHA:364055
HP:0008047	Abnormality of the vasculature of the eye	6121	RPE65	ORPHA:364055
HP:0008047	Abnormality of the vasculature of the eye	6121	RPE65	OMIM:204100
HP:0008047	Abnormality of the vasculature of the eye	6121	RPE65	OMIM:613794
HP:0008047	Abnormality of the vasculature of the eye	167691	LCA5	ORPHA:364055
HP:0008047	Abnormality of the vasculature of the eye	9742	IFT140	OMIM:617781
HP:0008047	Abnormality of the vasculature of the eye	9742	IFT140	OMIM:266920
HP:0008047	Abnormality of the vasculature of the eye	64801	ARV1	OMIM:617020
HP:0008047	Abnormality of the vasculature of the eye	3098	HK1	OMIM:617460
HP:0008047	Abnormality of the vasculature of the eye	50939	IMPG2	OMIM:613581
HP:0008047	Abnormality of the vasculature of the eye	8842	PROM1	OMIM:612095
HP:0008047	Abnormality of the vasculature of the eye	92211	CDHR1	OMIM:613660
HP:0008047	Abnormality of the vasculature of the eye	5148	PDE6G	OMIM:613582
HP:0008047	Abnormality of the vasculature of the eye	60509	AGBL5	OMIM:617023
HP:0008047	Abnormality of the vasculature of the eye	755	CFAP410	OMIM:617547
HP:0008047	Abnormality of the vasculature of the eye	123016	TTC8	OMIM:613464
HP:0008047	Abnormality of the vasculature of the eye	3420	IDH3B	OMIM:612572
HP:0008047	Abnormality of the vasculature of the eye	24148	PRPF6	OMIM:613983
HP:0008047	Abnormality of the vasculature of the eye	92840	REEP6	OMIM:617304
HP:0008047	Abnormality of the vasculature of the eye	9128	PRPF4	OMIM:615922
HP:0008047	Abnormality of the vasculature of the eye	3419	IDH3A	OMIM:619007
HP:0008047	Abnormality of the vasculature of the eye	85015	USP45	OMIM:618513
HP:0008047	Abnormality of the vasculature of the eye	768206	PRCD	OMIM:610599
HP:0008047	Abnormality of the vasculature of the eye	388939	PCARE	OMIM:613428
HP:0008047	Abnormality of the vasculature of the eye	23020	SNRNP200	OMIM:610359
HP:0008047	Abnormality of the vasculature of the eye	57096	RPGRIP1	OMIM:613826
HP:0008047	Abnormality of the vasculature of the eye	6742	SSBP1	OMIM:165510
HP:0008047	Abnormality of the vasculature of the eye	346007	EYS	OMIM:602772
HP:0008047	Abnormality of the vasculature of the eye	3105	HLA-A	ORPHA:179
HP:0008047	Abnormality of the vasculature of the eye	10210	TOPORS	OMIM:609923
HP:0008047	Abnormality of the vasculature of the eye	22926	ATF6	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	5146	PDE6C	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	6103	RPGR	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	5149	PDE6H	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	2780	GNAT2	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	1261	CNGA3	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	54714	CNGB3	ORPHA:49382
HP:0008047	Abnormality of the vasculature of the eye	24	ABCA4	OMIM:604116
HP:0008047	Abnormality of the vasculature of the eye	24	ABCA4	OMIM:601718
HP:0008047	Abnormality of the vasculature of the eye	83723	TLCD3B	OMIM:619531
HP:0008047	Abnormality of the vasculature of the eye	7439	BEST1	OMIM:613194
HP:0008047	Abnormality of the vasculature of the eye	112752	IFT43	OMIM:617871
HP:0008047	Abnormality of the vasculature of the eye	7275	TUB	OMIM:616188
HP:0008047	Abnormality of the vasculature of the eye	64218	SEMA4A	OMIM:610283
HP:0008047	Abnormality of the vasculature of the eye	4901	NRL	OMIM:613750
HP:0008047	Abnormality of the vasculature of the eye	9187	SLC24A1	OMIM:613830
HP:0008047	Abnormality of the vasculature of the eye	1259	CNGA1	OMIM:613756
HP:0008047	Abnormality of the vasculature of the eye	51109	RDH11	OMIM:616108
HP:0008047	Abnormality of the vasculature of the eye	84100	ARL6	OMIM:209900
HP:0008047	Abnormality of the vasculature of the eye	79140	CCDC28B	OMIM:209900
HP:0008047	Abnormality of the vasculature of the eye	582	BBS1	OMIM:209900
HP:0008047	Abnormality of the vasculature of the eye	26504	CNNM4	OMIM:217080
HP:0008047	Abnormality of the vasculature of the eye	6533	SLC6A6	OMIM:145350
HP:0008047	Abnormality of the vasculature of the eye	64802	NMNAT1	OMIM:608553
HP:0008047	Abnormality of the vasculature of the eye	64802	NMNAT1	OMIM:619260
HP:0008047	Abnormality of the vasculature of the eye	2072	ERCC4	OMIM:610965
HP:0008047	Abnormality of the vasculature of the eye	23746	AIPL1	OMIM:604393
HP:0008047	Abnormality of the vasculature of the eye	3614	IMPDH1	OMIM:180105
HP:0008047	Abnormality of the vasculature of the eye	403	ARL3	OMIM:618173
HP:0008047	Abnormality of the vasculature of the eye	23418	CRB1	OMIM:600105
HP:0008047	Abnormality of the vasculature of the eye	23155	CLCC1	OMIM:609913
HP:0008047	Abnormality of the vasculature of the eye	116150	NUS1	OMIM:617082
HP:0008047	Abnormality of the vasculature of the eye	26160	IFT172	OMIM:616394
HP:0008047	Abnormality of the vasculature of the eye	8481	OFD1	OMIM:300424
HP:0008047	Abnormality of the vasculature of the eye	2257	FGF12	OMIM:617166
HP:0008047	Abnormality of the vasculature of the eye	57728	WDR19	OMIM:614376
HP:0008047	Abnormality of the vasculature of the eye	375298	CERKL	OMIM:608380
HP:0008047	Abnormality of the vasculature of the eye	4598	MVK	OMIM:610377
HP:0008047	Abnormality of the vasculature of the eye	27241	BBS9	OMIM:615986
HP:0008047	Abnormality of the vasculature of the eye	57670	KIAA1549	OMIM:618613
HP:0008047	Abnormality of the vasculature of the eye	7287	TULP1	OMIM:613843
HP:0008047	Abnormality of the vasculature of the eye	5995	RGR	OMIM:613769
HP:0008047	Abnormality of the vasculature of the eye	5158	PDE6B	OMIM:613801
HP:0008047	Abnormality of the vasculature of the eye	145226	RDH12	OMIM:612712
HP:0008047	Abnormality of the vasculature of the eye	28982	FLVCR1	OMIM:609033
HP:0008047	Abnormality of the vasculature of the eye	8517	IKBKG	ORPHA:464
HP:0008047	Abnormality of the vasculature of the eye	8517	IKBKG	OMIM:308300
HP:0008047	Abnormality of the vasculature of the eye	4653	MYOC	OMIM:137750
HP:0008047	Abnormality of the vasculature of the eye	2296	FOXC1	OMIM:601631
HP:0008047	Abnormality of the vasculature of the eye	2161	F12	ORPHA:330
HP:0008047	Abnormality of the vasculature of the eye	9129	PRPF3	OMIM:601414
HP:0008047	Abnormality of the vasculature of the eye	4615	MYD88	ORPHA:33226
HP:0008047	Abnormality of the vasculature of the eye	23568	ARL2BP	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	54806	AHI1	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	4751	NEK2	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	8100	IFT88	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	762	CA4	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	138050	HGSNAT	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	196	AHR	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	1406	CRX	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	26121	PRPF31	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	583	BBS2	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	10461	MERTK	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	57709	SLC7A14	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	23370	ARHGEF18	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	5949	RBP3	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	6100	RP9	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	10002	NR2E3	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	84140	FAM161A	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	55624	POMGNT1	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	2979	GUCA1B	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	1258	CNGB1	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	55975	KLHL7	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	3617	IMPG1	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	6102	RP2	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	55857	KIZ	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	6295	SAG	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	79947	DHDDS	ORPHA:791
HP:0008047	Abnormality of the vasculature of the eye	1593	CYP27A1	ORPHA:909
HP:0008047	Abnormality of the vasculature of the eye	23474	ETHE1	OMIM:602473
HP:0008047	Abnormality of the vasculature of the eye	22947	DUX4L1	ORPHA:269
HP:0008047	Abnormality of the vasculature of the eye	1789	DNMT3B	ORPHA:269
HP:0008047	Abnormality of the vasculature of the eye	23347	SMCHD1	ORPHA:269
HP:0008047	Abnormality of the vasculature of the eye	100288687	DUX4	ORPHA:269
HP:0008047	Abnormality of the vasculature of the eye	1188	CLCNKB	OMIM:607364
HP:0008047	Abnormality of the vasculature of the eye	2776	GNAQ	ORPHA:3205
HP:0008047	Abnormality of the vasculature of the eye	427	ASAH1	ORPHA:333
HP:0008047	Abnormality of the vasculature of the eye	427	ASAH1	OMIM:228000
HP:0008047	Abnormality of the vasculature of the eye	5476	CTSA	ORPHA:351
HP:0008047	Abnormality of the vasculature of the eye	5476	CTSA	OMIM:256540
HP:0008047	Abnormality of the vasculature of the eye	6609	SMPD1	ORPHA:77293
HP:0008047	Abnormality of the vasculature of the eye	6609	SMPD1	OMIM:257200
HP:0008047	Abnormality of the vasculature of the eye	3074	HEXB	ORPHA:309155
HP:0008047	Abnormality of the vasculature of the eye	3074	HEXB	OMIM:268800
HP:0008047	Abnormality of the vasculature of the eye	2720	GLB1	OMIM:230500
HP:0008047	Abnormality of the vasculature of the eye	2720	GLB1	OMIM:230650
HP:0008047	Abnormality of the vasculature of the eye	2720	GLB1	ORPHA:79255
HP:0008047	Abnormality of the vasculature of the eye	2581	GALC	ORPHA:206436
HP:0008047	Abnormality of the vasculature of the eye	5660	PSAP	ORPHA:206436
HP:0008047	Abnormality of the vasculature of the eye	4758	NEU1	OMIM:256550
HP:0008047	Abnormality of the vasculature of the eye	4758	NEU1	ORPHA:93399
HP:0008047	Abnormality of the vasculature of the eye	4758	NEU1	ORPHA:812
HP:0008047	Abnormality of the vasculature of the eye	4758	NEU1	ORPHA:93400
HP:0008047	Abnormality of the vasculature of the eye	79583	TMEM231	ORPHA:2752
HP:0008047	Abnormality of the vasculature of the eye	3073	HEXA	OMIM:272800
HP:0008047	Abnormality of the vasculature of the eye	1615	DARS1	OMIM:615281
HP:0008047	Abnormality of the vasculature of the eye	2760	GM2A	ORPHA:309246
HP:0008047	Abnormality of the vasculature of the eye	10730	YME1L1	OMIM:617302
HP:0008047	Abnormality of the vasculature of the eye	11235	PDCD10	ORPHA:221061
HP:0008047	Abnormality of the vasculature of the eye	83605	CCM2	ORPHA:221061
HP:0008047	Abnormality of the vasculature of the eye	4016	LOXL1	OMIM:177650
HP:0008047	Abnormality of the vasculature of the eye	462	SERPINC1	ORPHA:82
HP:0008047	Abnormality of the vasculature of the eye	9993	DGCR2	OMIM:192430
HP:0008047	Abnormality of the vasculature of the eye	8220	ESS2	OMIM:192430
HP:0008047	Abnormality of the vasculature of the eye	8214	DGCR6	OMIM:192430
HP:0008047	Abnormality of the vasculature of the eye	54487	DGCR8	OMIM:192430
HP:0008047	Abnormality of the vasculature of the eye	1063	CENPF	OMIM:243605
HP:0008047	Abnormality of the vasculature of the eye	3913	LAMB2	OMIM:609049
HP:0008047	Abnormality of the vasculature of the eye	7490	WT1	OMIM:106210
HP:0008047	Abnormality of the vasculature of the eye	5080	PAX6	OMIM:106210
HP:0008047	Abnormality of the vasculature of the eye	10625	IVNS1ABP	OMIM:618969
HP:0008047	Abnormality of the vasculature of the eye	3932	LCK	OMIM:615758
HP:0008047	Abnormality of the vasculature of the eye	2202	EFEMP1	ORPHA:98977
HP:0008047	Abnormality of the vasculature of the eye	1545	CYP1B1	ORPHA:98977
HP:0008047	Abnormality of the vasculature of the eye	7045	TGFBI	ORPHA:98964
HP:0008047	Abnormality of the vasculature of the eye	3490	IGFBP7	OMIM:614224
HP:0008047	Abnormality of the vasculature of the eye	2615	LRRC32	OMIM:619074
HP:0008047	Abnormality of the vasculature of the eye	11277	TREX1	ORPHA:247691
HP:0008047	Abnormality of the vasculature of the eye	726	CAPN5	OMIM:193235
HP:0008047	Abnormality of the vasculature of the eye	6472	SHMT2	OMIM:619121
HP:0008047	Abnormality of the vasculature of the eye	4137	MAPT	ORPHA:240071
HP:0008047	Abnormality of the vasculature of the eye	114548	NLRP3	OMIM:191900
HP:0008047	Abnormality of the vasculature of the eye	114548	NLRP3	OMIM:148200
HP:0008047	Abnormality of the vasculature of the eye	7132	TNFRSF1A	OMIM:142680
HP:0008047	Abnormality of the vasculature of the eye	164	AP1G1	OMIM:619548
HP:0008048	Abnormal line of Schwalbe morphology	5308	PITX2	ORPHA:782
HP:0008048	Abnormal line of Schwalbe morphology	5308	PITX2	OMIM:180500
HP:0008048	Abnormal line of Schwalbe morphology	2296	FOXC1	ORPHA:782
HP:0008048	Abnormal line of Schwalbe morphology	2296	FOXC1	OMIM:601631
HP:0008048	Abnormal line of Schwalbe morphology	2296	FOXC1	OMIM:602482
HP:0008048	Abnormal line of Schwalbe morphology	9653	HS2ST1	OMIM:619194
HP:0008048	Abnormal line of Schwalbe morphology	5080	PAX6	OMIM:604229
HP:0008048	Abnormal line of Schwalbe morphology	6899	TBX1	OMIM:188400
HP:0008048	Abnormal line of Schwalbe morphology	6899	TBX1	OMIM:192430
HP:0008048	Abnormal line of Schwalbe morphology	6899	TBX1	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	5295	PIK3R1	ORPHA:3163
HP:0008048	Abnormal line of Schwalbe morphology	146167	SLC38A8	OMIM:609218
HP:0008048	Abnormal line of Schwalbe morphology	182	JAG1	OMIM:617992
HP:0008048	Abnormal line of Schwalbe morphology	182	JAG1	OMIM:118450
HP:0008048	Abnormal line of Schwalbe morphology	10413	YAP1	ORPHA:1473
HP:0008048	Abnormal line of Schwalbe morphology	6804	STX1A	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	7461	CLIP2	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	84277	DNAJC30	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	8468	FKBP6	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	5982	RFC2	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	2969	GTF2I	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	3984	LIMK1	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	9569	GTF2IRD1	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	155382	VPS37D	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	155368	METTL27	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	114049	BUD23	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	7458	EIF4H	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	84163	GTF2IRD2	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	9275	BCL7B	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	26608	TBL2	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	653361	NCF1	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	135886	TMEM270	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	51085	MLXIPL	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	9031	BAZ1B	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	2006	ELN	ORPHA:904
HP:0008048	Abnormal line of Schwalbe morphology	9993	DGCR2	OMIM:192430
HP:0008048	Abnormal line of Schwalbe morphology	8220	ESS2	OMIM:192430
HP:0008048	Abnormal line of Schwalbe morphology	8214	DGCR6	OMIM:192430
HP:0008048	Abnormal line of Schwalbe morphology	54487	DGCR8	OMIM:192430
HP:0008048	Abnormal line of Schwalbe morphology	5195	PEX14	OMIM:614887
HP:0008048	Abnormal line of Schwalbe morphology	5195	PEX14	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	55670	PEX26	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5824	PEX19	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5828	PEX2	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	8504	PEX3	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	8799	PEX11B	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	9409	PEX16	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5190	PEX6	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5830	PEX5	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5189	PEX1	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5193	PEX12	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5194	PEX13	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	5192	PEX10	ORPHA:912
HP:0008048	Abnormal line of Schwalbe morphology	4853	NOTCH2	OMIM:610205
HP:0008048	Abnormal line of Schwalbe morphology	3166	HMX1	OMIM:612109
HP:0008048	Abnormal line of Schwalbe morphology	1312	COMT	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	221037	JMJD1C	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	2812	GP1BB	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	6239	RREB1	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	7290	HIRA	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	9632	SEC24C	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	7353	UFD1	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	421	ARVCF	ORPHA:567
HP:0008048	Abnormal line of Schwalbe morphology	54539	NDUFB11	ORPHA:2556
HP:0008048	Abnormal line of Schwalbe morphology	1349	COX7B	ORPHA:2556
HP:0008048	Abnormal line of Schwalbe morphology	3052	HCCS	ORPHA:2556
HP:0008049	Abnormality of the extraocular muscles	347733	TUBB2B	OMIM:610031
HP:0008049	Abnormality of the extraocular muscles	401	PHOX2A	OMIM:602078
HP:0008049	Abnormality of the extraocular muscles	84570	COL25A1	ORPHA:91411
HP:0008049	Abnormality of the extraocular muscles	79776	ZFHX4	ORPHA:91411
HP:0008049	Abnormality of the extraocular muscles	5428	POLG	ORPHA:298
HP:0008049	Abnormality of the extraocular muscles	1890	TYMP	ORPHA:298
HP:0008049	Abnormality of the extraocular muscles	3980	LIG3	ORPHA:298
HP:0008049	Abnormality of the extraocular muscles	50484	RRM2B	ORPHA:298
HP:0008049	Abnormality of the extraocular muscles	9782	MATR3	ORPHA:600
HP:0008049	Abnormality of the extraocular muscles	55605	KIF21A	OMIM:135700
HP:0008049	Abnormality of the extraocular muscles	10381	TUBB3	OMIM:600638
HP:0008050	Abnormality of the palpebral fissures	1718	DHCR24	OMIM:602398
HP:0008050	Abnormality of the palpebral fissures	1718	DHCR24	ORPHA:35107
HP:0008050	Abnormality of the palpebral fissures	7528	YY1	ORPHA:506358
HP:0008050	Abnormality of the palpebral fissures	7528	YY1	OMIM:617557
HP:0008050	Abnormality of the palpebral fissures	8036	SHOC2	OMIM:607721
HP:0008050	Abnormality of the palpebral fissures	11253	MAN1B1	ORPHA:397941
HP:0008050	Abnormality of the palpebral fissures	11253	MAN1B1	OMIM:614202
HP:0008050	Abnormality of the palpebral fissures	26235	FBXL4	OMIM:615471
HP:0008050	Abnormality of the palpebral fissures	8367	H4C5	OMIM:619950
HP:0008050	Abnormality of the palpebral fissures	340533	NEXMIF	OMIM:300912
HP:0008050	Abnormality of the palpebral fissures	8294	H4C9	OMIM:619951
HP:0008050	Abnormality of the palpebral fissures	1139	CHRNA7	ORPHA:199318
HP:0008050	Abnormality of the palpebral fissures	8216	LZTR1	OMIM:616564
HP:0008050	Abnormality of the palpebral fissures	8216	LZTR1	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	8216	LZTR1	OMIM:605275
HP:0008050	Abnormality of the palpebral fissures	50651	SLC45A1	OMIM:617532
HP:0008050	Abnormality of the palpebral fissures	23334	SZT2	OMIM:615476
HP:0008050	Abnormality of the palpebral fissures	23334	SZT2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	6016	RIT1	OMIM:615355
HP:0008050	Abnormality of the palpebral fissures	6016	RIT1	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	1947	EFNB1	ORPHA:1520
HP:0008050	Abnormality of the palpebral fissures	1947	EFNB1	OMIM:304110
HP:0008050	Abnormality of the palpebral fissures	51126	NAA20	OMIM:619717
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	OMIM:149730
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	OMIM:123790
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	OMIM:101200
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	OMIM:101600
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	ORPHA:87
HP:0008050	Abnormality of the palpebral fissures	2263	FGFR2	ORPHA:1555
HP:0008050	Abnormality of the palpebral fissures	55627	SMPD4	OMIM:618622
HP:0008050	Abnormality of the palpebral fissures	81857	MED25	OMIM:616449
HP:0008050	Abnormality of the palpebral fissures	81857	MED25	ORPHA:464738
HP:0008050	Abnormality of the palpebral fissures	5077	PAX3	ORPHA:1529
HP:0008050	Abnormality of the palpebral fissures	5077	PAX3	ORPHA:896
HP:0008050	Abnormality of the palpebral fissures	5077	PAX3	OMIM:122880
HP:0008050	Abnormality of the palpebral fissures	55209	SETD5	ORPHA:404440
HP:0008050	Abnormality of the palpebral fissures	55209	SETD5	OMIM:615761
HP:0008050	Abnormality of the palpebral fissures	10743	RAI1	ORPHA:477817
HP:0008050	Abnormality of the palpebral fissures	10743	RAI1	ORPHA:1713
HP:0008050	Abnormality of the palpebral fissures	116931	MED12L	OMIM:618872
HP:0008050	Abnormality of the palpebral fissures	9578	CDC42BPB	OMIM:619841
HP:0008050	Abnormality of the palpebral fissures	3020	H3-3A	OMIM:619720
HP:0008050	Abnormality of the palpebral fissures	80816	ASXL3	OMIM:615485
HP:0008050	Abnormality of the palpebral fissures	80816	ASXL3	ORPHA:352577
HP:0008050	Abnormality of the palpebral fissures	55790	CSGALNACT1	OMIM:618870
HP:0008050	Abnormality of the palpebral fissures	1723	DHODH	OMIM:263750
HP:0008050	Abnormality of the palpebral fissures	1723	DHODH	ORPHA:246
HP:0008050	Abnormality of the palpebral fissures	27245	AHDC1	ORPHA:412069
HP:0008050	Abnormality of the palpebral fissures	27245	AHDC1	OMIM:615829
HP:0008050	Abnormality of the palpebral fissures	55690	PACS1	OMIM:615009
HP:0008050	Abnormality of the palpebral fissures	55690	PACS1	ORPHA:329224
HP:0008050	Abnormality of the palpebral fissures	55904	KMT2E	OMIM:618512
HP:0008050	Abnormality of the palpebral fissures	5728	PTEN	ORPHA:2969
HP:0008050	Abnormality of the palpebral fissures	5728	PTEN	ORPHA:744
HP:0008050	Abnormality of the palpebral fissures	5728	PTEN	ORPHA:79076
HP:0008050	Abnormality of the palpebral fissures	23384	SPECC1L	ORPHA:1519
HP:0008050	Abnormality of the palpebral fissures	23384	SPECC1L	OMIM:145420
HP:0008050	Abnormality of the palpebral fissures	3190	HNRNPK	OMIM:616580
HP:0008050	Abnormality of the palpebral fissures	2590	GALNT2	OMIM:618885
HP:0008050	Abnormality of the palpebral fissures	54453	RIN2	OMIM:613075
HP:0008050	Abnormality of the palpebral fissures	54453	RIN2	ORPHA:217335
HP:0008050	Abnormality of the palpebral fissures	25885	POLR1A	OMIM:616462
HP:0008050	Abnormality of the palpebral fissures	113189	CHST14	ORPHA:2953
HP:0008050	Abnormality of the palpebral fissures	113189	CHST14	OMIM:601776
HP:0008050	Abnormality of the palpebral fissures	29940	DSE	ORPHA:2953
HP:0008050	Abnormality of the palpebral fissures	29940	DSE	OMIM:615539
HP:0008050	Abnormality of the palpebral fissures	79029	AFG2B	OMIM:619616
HP:0008050	Abnormality of the palpebral fissures	7021	TFAP2B	ORPHA:46627
HP:0008050	Abnormality of the palpebral fissures	815	CAMK2A	OMIM:617798
HP:0008050	Abnormality of the palpebral fissures	23545	ATP6V0A2	ORPHA:2834
HP:0008050	Abnormality of the palpebral fissures	23545	ATP6V0A2	OMIM:278250
HP:0008050	Abnormality of the palpebral fissures	23545	ATP6V0A2	OMIM:219200
HP:0008050	Abnormality of the palpebral fissures	23545	ATP6V0A2	ORPHA:357074
HP:0008050	Abnormality of the palpebral fissures	4853	NOTCH2	OMIM:102500
HP:0008050	Abnormality of the palpebral fissures	4853	NOTCH2	ORPHA:955
HP:0008050	Abnormality of the palpebral fissures	9968	MED12	ORPHA:93932
HP:0008050	Abnormality of the palpebral fissures	9968	MED12	OMIM:305450
HP:0008050	Abnormality of the palpebral fissures	9968	MED12	OMIM:300895
HP:0008050	Abnormality of the palpebral fissures	10381	TUBB3	ORPHA:300570
HP:0008050	Abnormality of the palpebral fissures	64359	NXN	ORPHA:1507
HP:0008050	Abnormality of the palpebral fissures	4920	ROR2	ORPHA:1507
HP:0008050	Abnormality of the palpebral fissures	4920	ROR2	OMIM:268310
HP:0008050	Abnormality of the palpebral fissures	157680	VPS13B	OMIM:216550
HP:0008050	Abnormality of the palpebral fissures	157680	VPS13B	ORPHA:193
HP:0008050	Abnormality of the palpebral fissures	2626	GATA4	ORPHA:251071
HP:0008050	Abnormality of the palpebral fissures	9401	RECQL4	OMIM:218600
HP:0008050	Abnormality of the palpebral fissures	6872	TAF1	ORPHA:480907
HP:0008050	Abnormality of the palpebral fissures	6872	TAF1	OMIM:300966
HP:0008050	Abnormality of the palpebral fissures	1105	CHD1	OMIM:617682
HP:0008050	Abnormality of the palpebral fissures	1105	CHD1	ORPHA:529965
HP:0008050	Abnormality of the palpebral fissures	8726	EED	OMIM:617561
HP:0008050	Abnormality of the palpebral fissures	8726	EED	ORPHA:3447
HP:0008050	Abnormality of the palpebral fissures	10815	CPLX1	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	54872	PIGG	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	7469	NELFA	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	1487	CTBP1	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	3954	LETM1	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	7468	NSD2	ORPHA:280
HP:0008050	Abnormality of the palpebral fissures	5159	PDGFRB	OMIM:616592
HP:0008050	Abnormality of the palpebral fissures	4330	MN1	OMIM:618774
HP:0008050	Abnormality of the palpebral fissures	1501	CTNND2	ORPHA:281
HP:0008050	Abnormality of the palpebral fissures	9037	SEMA5A	ORPHA:281
HP:0008050	Abnormality of the palpebral fissures	5528	PPP2R5D	OMIM:616355
HP:0008050	Abnormality of the palpebral fissures	5528	PPP2R5D	ORPHA:457279
HP:0008050	Abnormality of the palpebral fissures	56992	KIF15	OMIM:619981
HP:0008050	Abnormality of the palpebral fissures	56992	KIF15	ORPHA:261323
HP:0008050	Abnormality of the palpebral fissures	57178	ZMIZ1	OMIM:618659
HP:0008050	Abnormality of the palpebral fissures	200734	SPRED2	OMIM:619745
HP:0008050	Abnormality of the palpebral fissures	200734	SPRED2	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	3737	KCNA2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	1759	DNM1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	8120	AP3B2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	523	ATP6V1A	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	523	ATP6V1A	ORPHA:357074
HP:0008050	Abnormality of the palpebral fissures	523	ATP6V1A	OMIM:617403
HP:0008050	Abnormality of the palpebral fissures	10991	SLC38A3	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	51343	FZR1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	22906	TRAK1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2566	GABRG2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	1917	EEF1A2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	1917	EEF1A2	OMIM:616393
HP:0008050	Abnormality of the palpebral fissures	2561	GABRB2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	8831	SYNGAP1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	7532	YWHAG	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	79876	UBA5	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	6328	SCN3A	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2558	GABRA5	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	781	CACNA2D1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2906	GRIN2D	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	116150	NUS1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	10659	CELF2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	774	CACNA1B	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	1213	CLTC	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	51741	WWOX	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	51412	ACTL6B	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	348980	HCN1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	6506	SLC1A2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	8867	SYNJ1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2258	FGF13	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	477	ATP1A2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	3745	KCNB1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	284111	SLC13A5	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	25977	NECAP1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	16	AARS1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	6334	SCN8A	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	22866	CNKSR2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	9568	GABBR2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2555	GABRA2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	55152	DALRD3	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	773	CACNA1A	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	26999	CYFIP2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	4915	NTRK2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	25973	PARS2	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	23097	CDK19	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	64801	ARV1	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	79947	DHDDS	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	2257	FGF12	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	5530	PPP3CA	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	478	ATP1A3	ORPHA:442835
HP:0008050	Abnormality of the palpebral fissures	55623	THUMPD1	OMIM:619989
HP:0008050	Abnormality of the palpebral fissures	10716	TBR1	ORPHA:1617
HP:0008050	Abnormality of the palpebral fissures	4247	MGAT2	OMIM:212066
HP:0008050	Abnormality of the palpebral fissures	4247	MGAT2	ORPHA:79329
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	ORPHA:90650
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	ORPHA:90652
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	OMIM:304120
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	ORPHA:1826
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	OMIM:311300
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	OMIM:305620
HP:0008050	Abnormality of the palpebral fissures	2316	FLNA	OMIM:300048
HP:0008050	Abnormality of the palpebral fissures	3476	IGBP1	ORPHA:52055
HP:0008050	Abnormality of the palpebral fissures	3476	IGBP1	OMIM:300472
HP:0008050	Abnormality of the palpebral fissures	92482	BBIP1	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	80184	CEP290	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	11020	IFT27	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	582	BBS1	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	49855	SCAPER	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	4867	NPHP1	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	51057	WDPCP	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	27241	BBS9	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	84984	CEP19	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	22954	TRIM32	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	54903	MKS1	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	79738	BBS10	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	123016	TTC8	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	26160	IFT172	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	583	BBS2	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	585	BBS4	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	8195	MKKS	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	54585	LZTFL1	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	55212	BBS7	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	166379	BBS12	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	10806	SDCCAG8	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	157657	CFAP418	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	84100	ARL6	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	129880	BBS5	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	80173	IFT74	ORPHA:110
HP:0008050	Abnormality of the palpebral fissures	5518	PPP2R1A	OMIM:616362
HP:0008050	Abnormality of the palpebral fissures	253738	EBF3	OMIM:617330
HP:0008050	Abnormality of the palpebral fissures	23312	DMXL2	OMIM:618663
HP:0008050	Abnormality of the palpebral fissures	1182	CLCN3	OMIM:619512
HP:0008050	Abnormality of the palpebral fissures	23512	SUZ12	OMIM:618786
HP:0008050	Abnormality of the palpebral fissures	23512	SUZ12	ORPHA:3447
HP:0008050	Abnormality of the palpebral fissures	3590	IL11RA	OMIM:614188
HP:0008050	Abnormality of the palpebral fissures	7862	BRPF1	OMIM:617333
HP:0008050	Abnormality of the palpebral fissures	23126	POGZ	OMIM:616364
HP:0008050	Abnormality of the palpebral fissures	57680	CHD8	OMIM:615032
HP:0008050	Abnormality of the palpebral fissures	23461	ABCA5	OMIM:135400
HP:0008050	Abnormality of the palpebral fissures	8558	CDK10	OMIM:617694
HP:0008050	Abnormality of the palpebral fissures	51633	OTUD6B	OMIM:617452
HP:0008050	Abnormality of the palpebral fissures	51633	OTUD6B	ORPHA:505237
HP:0008050	Abnormality of the palpebral fissures	3572	IL6ST	OMIM:619750
HP:0008050	Abnormality of the palpebral fissures	5048	PAFAH1B1	ORPHA:217385
HP:0008050	Abnormality of the palpebral fissures	7531	YWHAE	ORPHA:217385
HP:0008050	Abnormality of the palpebral fissures	6899	TBX1	ORPHA:1727
HP:0008050	Abnormality of the palpebral fissures	6899	TBX1	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	145258	GSC	OMIM:602471
HP:0008050	Abnormality of the palpebral fissures	85365	ALG2	ORPHA:79326
HP:0008050	Abnormality of the palpebral fissures	26137	ZBTB20	OMIM:259050
HP:0008050	Abnormality of the palpebral fissures	26137	ZBTB20	ORPHA:3042
HP:0008050	Abnormality of the palpebral fissures	8314	BAP1	OMIM:619762
HP:0008050	Abnormality of the palpebral fissures	7750	ZMYM2	OMIM:619522
HP:0008050	Abnormality of the palpebral fissures	27086	FOXP1	ORPHA:391372
HP:0008050	Abnormality of the palpebral fissures	27086	FOXP1	OMIM:613670
HP:0008050	Abnormality of the palpebral fissures	53335	BCL11A	OMIM:617101
HP:0008050	Abnormality of the palpebral fissures	9158	FIBP	OMIM:617107
HP:0008050	Abnormality of the palpebral fissures	9158	FIBP	ORPHA:500095
HP:0008050	Abnormality of the palpebral fissures	4621	MYH3	OMIM:618436
HP:0008050	Abnormality of the palpebral fissures	4621	MYH3	OMIM:178110
HP:0008050	Abnormality of the palpebral fissures	4621	MYH3	ORPHA:2053
HP:0008050	Abnormality of the palpebral fissures	4621	MYH3	ORPHA:2990
HP:0008050	Abnormality of the palpebral fissures	57492	ARID1B	ORPHA:251056
HP:0008050	Abnormality of the palpebral fissures	57492	ARID1B	OMIM:135900
HP:0008050	Abnormality of the palpebral fissures	57688	ZSWIM6	OMIM:603671
HP:0008050	Abnormality of the palpebral fissures	7030	TFE3	OMIM:301066
HP:0008050	Abnormality of the palpebral fissures	2239	GPC4	ORPHA:373
HP:0008050	Abnormality of the palpebral fissures	2239	GPC4	OMIM:312870
HP:0008050	Abnormality of the palpebral fissures	2719	GPC3	ORPHA:373
HP:0008050	Abnormality of the palpebral fissures	2719	GPC3	OMIM:312870
HP:0008050	Abnormality of the palpebral fissures	259232	NALCN	OMIM:616266
HP:0008050	Abnormality of the palpebral fissures	259232	NALCN	ORPHA:2053
HP:0008050	Abnormality of the palpebral fissures	259232	NALCN	ORPHA:371364
HP:0008050	Abnormality of the palpebral fissures	57479	PRR12	OMIM:619539
HP:0008050	Abnormality of the palpebral fissures	2260	FGFR1	OMIM:166250
HP:0008050	Abnormality of the palpebral fissures	2260	FGFR1	OMIM:101600
HP:0008050	Abnormality of the palpebral fissures	2260	FGFR1	ORPHA:2117
HP:0008050	Abnormality of the palpebral fissures	4052	LTBP1	ORPHA:90349
HP:0008050	Abnormality of the palpebral fissures	4052	LTBP1	OMIM:619451
HP:0008050	Abnormality of the palpebral fissures	30008	EFEMP2	ORPHA:90349
HP:0008050	Abnormality of the palpebral fissures	30008	EFEMP2	OMIM:614437
HP:0008050	Abnormality of the palpebral fissures	10516	FBLN5	ORPHA:90349
HP:0008050	Abnormality of the palpebral fissures	6885	MAP3K7	ORPHA:1826
HP:0008050	Abnormality of the palpebral fissures	6885	MAP3K7	OMIM:617137
HP:0008050	Abnormality of the palpebral fissures	8813	DPM1	ORPHA:79322
HP:0008050	Abnormality of the palpebral fissures	8813	DPM1	OMIM:608799
HP:0008050	Abnormality of the palpebral fissures	10262	SF3B4	ORPHA:245
HP:0008050	Abnormality of the palpebral fissures	10262	SF3B4	OMIM:154400
HP:0008050	Abnormality of the palpebral fissures	6595	SMARCA2	OMIM:601358
HP:0008050	Abnormality of the palpebral fissures	6595	SMARCA2	ORPHA:3051
HP:0008050	Abnormality of the palpebral fissures	91252	SLC39A13	ORPHA:157965
HP:0008050	Abnormality of the palpebral fissures	91252	SLC39A13	OMIM:612350
HP:0008050	Abnormality of the palpebral fissures	117581	TWIST2	ORPHA:1807
HP:0008050	Abnormality of the palpebral fissures	1387	CREBBP	OMIM:618332
HP:0008050	Abnormality of the palpebral fissures	1387	CREBBP	OMIM:180849
HP:0008050	Abnormality of the palpebral fissures	1387	CREBBP	ORPHA:353277
HP:0008050	Abnormality of the palpebral fissures	6261	RYR1	OMIM:619542
HP:0008050	Abnormality of the palpebral fissures	9533	POLR1C	OMIM:248390
HP:0008050	Abnormality of the palpebral fissures	9533	POLR1C	ORPHA:861
HP:0008050	Abnormality of the palpebral fissures	6654	SOS1	OMIM:610733
HP:0008050	Abnormality of the palpebral fissures	6654	SOS1	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	1801	DPH1	ORPHA:459061
HP:0008050	Abnormality of the palpebral fissures	1801	DPH1	OMIM:616901
HP:0008050	Abnormality of the palpebral fissures	389827	MYMK	OMIM:254940
HP:0008050	Abnormality of the palpebral fissures	389827	MYMK	ORPHA:1358
HP:0008050	Abnormality of the palpebral fissures	5813	PURA	ORPHA:314655
HP:0008050	Abnormality of the palpebral fissures	9949	AMMECR1	OMIM:300990
HP:0008050	Abnormality of the palpebral fissures	9949	AMMECR1	ORPHA:86818
HP:0008050	Abnormality of the palpebral fissures	2737	GLI3	ORPHA:672
HP:0008050	Abnormality of the palpebral fissures	2737	GLI3	OMIM:175700
HP:0008050	Abnormality of the palpebral fissures	8925	HERC1	OMIM:617011
HP:0008050	Abnormality of the palpebral fissures	8925	HERC1	ORPHA:457359
HP:0008050	Abnormality of the palpebral fissures	23013	SPEN	OMIM:619312
HP:0008050	Abnormality of the palpebral fissures	5351	PLOD1	OMIM:225400
HP:0008050	Abnormality of the palpebral fissures	56896	DPYSL5	OMIM:619435
HP:0008050	Abnormality of the palpebral fissures	6477	SIAH1	OMIM:619314
HP:0008050	Abnormality of the palpebral fissures	4598	MVK	ORPHA:29
HP:0008050	Abnormality of the palpebral fissures	4598	MVK	OMIM:610377
HP:0008050	Abnormality of the palpebral fissures	54517	PUS7	OMIM:618342
HP:0008050	Abnormality of the palpebral fissures	10765	KDM5B	OMIM:618109
HP:0008050	Abnormality of the palpebral fissures	8573	CASK	OMIM:300749
HP:0008050	Abnormality of the palpebral fissures	23314	SATB2	ORPHA:251028
HP:0008050	Abnormality of the palpebral fissures	23314	SATB2	ORPHA:251019
HP:0008050	Abnormality of the palpebral fissures	23314	SATB2	OMIM:612313
HP:0008050	Abnormality of the palpebral fissures	5396	PRRX1	OMIM:202650
HP:0008050	Abnormality of the palpebral fissures	6418	SET	OMIM:618106
HP:0008050	Abnormality of the palpebral fissures	2200	FBN1	ORPHA:284979
HP:0008050	Abnormality of the palpebral fissures	2200	FBN1	OMIM:616914
HP:0008050	Abnormality of the palpebral fissures	2200	FBN1	ORPHA:2462
HP:0008050	Abnormality of the palpebral fissures	2200	FBN1	OMIM:154700
HP:0008050	Abnormality of the palpebral fissures	27125	AFF4	ORPHA:444077
HP:0008050	Abnormality of the palpebral fissures	55315	SLC29A3	OMIM:602782
HP:0008050	Abnormality of the palpebral fissures	7372	UMPS	ORPHA:30
HP:0008050	Abnormality of the palpebral fissures	7707	ZNF148	OMIM:617260
HP:0008050	Abnormality of the palpebral fissures	91754	NEK9	OMIM:617022
HP:0008050	Abnormality of the palpebral fissures	650	BMP2	ORPHA:261295
HP:0008050	Abnormality of the palpebral fissures	650	BMP2	OMIM:617877
HP:0008050	Abnormality of the palpebral fissures	9871	SEC24D	OMIM:616294
HP:0008050	Abnormality of the palpebral fissures	9871	SEC24D	ORPHA:2050
HP:0008050	Abnormality of the palpebral fissures	29998	BICRA	OMIM:619325
HP:0008050	Abnormality of the palpebral fissures	6651	SON	OMIM:617140
HP:0008050	Abnormality of the palpebral fissures	6651	SON	ORPHA:500150
HP:0008050	Abnormality of the palpebral fissures	9342	SNAP29	ORPHA:66631
HP:0008050	Abnormality of the palpebral fissures	9342	SNAP29	OMIM:609528
HP:0008050	Abnormality of the palpebral fissures	2033	EP300	ORPHA:353284
HP:0008050	Abnormality of the palpebral fissures	2033	EP300	OMIM:180849
HP:0008050	Abnormality of the palpebral fissures	2033	EP300	OMIM:613684
HP:0008050	Abnormality of the palpebral fissures	1289	COL5A1	OMIM:619329
HP:0008050	Abnormality of the palpebral fissures	3417	IDH1	ORPHA:99646
HP:0008050	Abnormality of the palpebral fissures	56975	FAM20C	OMIM:259775
HP:0008050	Abnormality of the palpebral fissures	4763	NF1	OMIM:601321
HP:0008050	Abnormality of the palpebral fissures	4763	NF1	ORPHA:97685
HP:0008050	Abnormality of the palpebral fissures	4763	NF1	ORPHA:638
HP:0008050	Abnormality of the palpebral fissures	83999	KREMEN1	OMIM:617392
HP:0008050	Abnormality of the palpebral fissures	3039	HBA1	ORPHA:98791
HP:0008050	Abnormality of the palpebral fissures	3040	HBA2	ORPHA:98791
HP:0008050	Abnormality of the palpebral fissures	51132	RLIM	OMIM:300978
HP:0008050	Abnormality of the palpebral fissures	8260	NAA10	OMIM:300855
HP:0008050	Abnormality of the palpebral fissures	8260	NAA10	ORPHA:276432
HP:0008050	Abnormality of the palpebral fissures	5831	PYCR1	OMIM:612940
HP:0008050	Abnormality of the palpebral fissures	201163	FLCN	OMIM:610883
HP:0008050	Abnormality of the palpebral fissures	29920	PYCR2	ORPHA:481152
HP:0008050	Abnormality of the palpebral fissures	29920	PYCR2	OMIM:616420
HP:0008050	Abnormality of the palpebral fissures	92344	GORAB	OMIM:231070
HP:0008050	Abnormality of the palpebral fissures	1312	COMT	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	221037	JMJD1C	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	2812	GP1BB	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	6239	RREB1	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	7290	HIRA	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	9632	SEC24C	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	7353	UFD1	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	421	ARVCF	ORPHA:567
HP:0008050	Abnormality of the palpebral fissures	7136	TNNI2	OMIM:601680
HP:0008050	Abnormality of the palpebral fissures	1009	CDH11	OMIM:211380
HP:0008050	Abnormality of the palpebral fissures	1009	CDH11	ORPHA:1299
HP:0008050	Abnormality of the palpebral fissures	444	ASPH	OMIM:601552
HP:0008050	Abnormality of the palpebral fissures	7703	PCGF2	OMIM:618371
HP:0008050	Abnormality of the palpebral fissures	23111	SPART	ORPHA:101000
HP:0008050	Abnormality of the palpebral fissures	25942	SIN3A	ORPHA:94065
HP:0008050	Abnormality of the palpebral fissures	25942	SIN3A	OMIM:613406
HP:0008050	Abnormality of the palpebral fissures	9509	ADAMTS2	OMIM:225410
HP:0008050	Abnormality of the palpebral fissures	10524	KAT5	OMIM:619103
HP:0008050	Abnormality of the palpebral fissures	372	ARCN1	OMIM:617164
HP:0008050	Abnormality of the palpebral fissures	633	BGN	OMIM:300989
HP:0008050	Abnormality of the palpebral fissures	22808	MRAS	OMIM:618499
HP:0008050	Abnormality of the palpebral fissures	22808	MRAS	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	26040	SETBP1	OMIM:616078
HP:0008050	Abnormality of the palpebral fissures	2475	MTOR	ORPHA:457485
HP:0008050	Abnormality of the palpebral fissures	2475	MTOR	OMIM:616638
HP:0008050	Abnormality of the palpebral fissures	6304	SATB1	OMIM:619229
HP:0008050	Abnormality of the palpebral fissures	9343	EFTUD2	OMIM:610536
HP:0008050	Abnormality of the palpebral fissures	23594	ORC6	OMIM:613803
HP:0008050	Abnormality of the palpebral fissures	7291	TWIST1	OMIM:180750
HP:0008050	Abnormality of the palpebral fissures	5913	RAPSN	OMIM:618388
HP:0008050	Abnormality of the palpebral fissures	2290	FOXG1	ORPHA:261144
HP:0008050	Abnormality of the palpebral fissures	285489	DOK7	OMIM:618389
HP:0008050	Abnormality of the palpebral fissures	134218	DNAJC21	OMIM:617052
HP:0008050	Abnormality of the palpebral fissures	5977	DPF2	OMIM:618027
HP:0008050	Abnormality of the palpebral fissures	79005	SCNM1	OMIM:620107
HP:0008050	Abnormality of the palpebral fissures	285590	SH3PXD2B	ORPHA:137834
HP:0008050	Abnormality of the palpebral fissures	285590	SH3PXD2B	OMIM:249420
HP:0008050	Abnormality of the palpebral fissures	10283	CWC27	OMIM:250410
HP:0008050	Abnormality of the palpebral fissures	10283	CWC27	ORPHA:166035
HP:0008050	Abnormality of the palpebral fissures	246329	STAC3	ORPHA:168572
HP:0008050	Abnormality of the palpebral fissures	246329	STAC3	OMIM:255995
HP:0008050	Abnormality of the palpebral fissures	207	AKT1	ORPHA:744
HP:0008050	Abnormality of the palpebral fissures	207	AKT1	OMIM:176920
HP:0008050	Abnormality of the palpebral fissures	11198	SUPT16H	OMIM:619480
HP:0008050	Abnormality of the palpebral fissures	84172	POLR1B	ORPHA:861
HP:0008050	Abnormality of the palpebral fissures	84172	POLR1B	OMIM:618939
HP:0008050	Abnormality of the palpebral fissures	51082	POLR1D	ORPHA:861
HP:0008050	Abnormality of the palpebral fissures	51082	POLR1D	OMIM:613717
HP:0008050	Abnormality of the palpebral fissures	6949	TCOF1	ORPHA:861
HP:0008050	Abnormality of the palpebral fissures	6949	TCOF1	OMIM:154500
HP:0008050	Abnormality of the palpebral fissures	7204	TRIO	OMIM:617061
HP:0008050	Abnormality of the palpebral fissures	7204	TRIO	OMIM:618825
HP:0008050	Abnormality of the palpebral fissures	5290	PIK3CA	OMIM:602501
HP:0008050	Abnormality of the palpebral fissures	2571	GAD1	OMIM:619124
HP:0008050	Abnormality of the palpebral fissures	23067	SETD1B	OMIM:619000
HP:0008050	Abnormality of the palpebral fissures	23112	TNRC6B	OMIM:619243
HP:0008050	Abnormality of the palpebral fissures	8450	CUL4B	ORPHA:85293
HP:0008050	Abnormality of the palpebral fissures	64093	SMOC1	OMIM:206920
HP:0008050	Abnormality of the palpebral fissures	22995	CEP152	OMIM:613823
HP:0008050	Abnormality of the palpebral fissures	22995	CEP152	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	93587	TRMT10A	ORPHA:391408
HP:0008050	Abnormality of the palpebral fissures	84919	PPP1R15B	ORPHA:391408
HP:0008050	Abnormality of the palpebral fissures	84919	PPP1R15B	OMIM:616817
HP:0008050	Abnormality of the palpebral fissures	673	BRAF	OMIM:613707
HP:0008050	Abnormality of the palpebral fissures	673	BRAF	OMIM:613706
HP:0008050	Abnormality of the palpebral fissures	673	BRAF	OMIM:115150
HP:0008050	Abnormality of the palpebral fissures	673	BRAF	ORPHA:1340
HP:0008050	Abnormality of the palpebral fissures	673	BRAF	OMIM:163950
HP:0008050	Abnormality of the palpebral fissures	80267	EDEM3	OMIM:619493
HP:0008050	Abnormality of the palpebral fissures	57020	VPS35L	OMIM:619135
HP:0008050	Abnormality of the palpebral fissures	4781	NFIB	OMIM:618286
HP:0008050	Abnormality of the palpebral fissures	1984	EIF5A	OMIM:619376
HP:0008050	Abnormality of the palpebral fissures	2733	GLE1	OMIM:611890
HP:0008050	Abnormality of the palpebral fissures	8481	OFD1	OMIM:300804
HP:0008050	Abnormality of the palpebral fissures	8481	OFD1	OMIM:311200
HP:0008050	Abnormality of the palpebral fissures	8481	OFD1	ORPHA:2750
HP:0008050	Abnormality of the palpebral fissures	22800	RRAS2	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	867	CBL	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	867	CBL	OMIM:613563
HP:0008050	Abnormality of the palpebral fissures	6237	RRAS	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	5894	RAF1	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	5894	RAF1	OMIM:611554
HP:0008050	Abnormality of the palpebral fissures	5894	RAF1	OMIM:611553
HP:0008050	Abnormality of the palpebral fissures	3845	KRAS	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	3845	KRAS	ORPHA:1340
HP:0008050	Abnormality of the palpebral fissures	3845	KRAS	OMIM:609942
HP:0008050	Abnormality of the palpebral fissures	4893	NRAS	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	4893	NRAS	OMIM:613224
HP:0008050	Abnormality of the palpebral fissures	6655	SOS2	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	6655	SOS2	OMIM:616559
HP:0008050	Abnormality of the palpebral fissures	5781	PTPN11	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	5781	PTPN11	OMIM:163950
HP:0008050	Abnormality of the palpebral fissures	5922	RASA2	ORPHA:648
HP:0008050	Abnormality of the palpebral fissures	84081	NSRP1	OMIM:620001
HP:0008050	Abnormality of the palpebral fissures	7474	WNT5A	OMIM:180700
HP:0008050	Abnormality of the palpebral fissures	7474	WNT5A	ORPHA:3107
HP:0008050	Abnormality of the palpebral fissures	1855	DVL1	OMIM:180700
HP:0008050	Abnormality of the palpebral fissures	1855	DVL1	ORPHA:3107
HP:0008050	Abnormality of the palpebral fissures	5727	PTCH1	ORPHA:77301
HP:0008050	Abnormality of the palpebral fissures	9897	WASHC5	ORPHA:7
HP:0008050	Abnormality of the palpebral fissures	9897	WASHC5	OMIM:220210
HP:0008050	Abnormality of the palpebral fissures	28952	CCDC22	ORPHA:7
HP:0008050	Abnormality of the palpebral fissures	1795	DOCK3	OMIM:618292
HP:0008050	Abnormality of the palpebral fissures	51626	DYNC2LI1	OMIM:617088
HP:0008050	Abnormality of the palpebral fissures	80704	SLC19A3	ORPHA:263410
HP:0008050	Abnormality of the palpebral fissures	90121	TSR2	OMIM:300946
HP:0008050	Abnormality of the palpebral fissures	2261	FGFR3	OMIM:602849
HP:0008050	Abnormality of the palpebral fissures	51109	RDH11	ORPHA:436245
HP:0008050	Abnormality of the palpebral fissures	7042	TGFB2	OMIM:614816
HP:0008050	Abnormality of the palpebral fissures	5605	MAP2K2	ORPHA:638
HP:0008050	Abnormality of the palpebral fissures	5605	MAP2K2	ORPHA:1340
HP:0008050	Abnormality of the palpebral fissures	8243	SMC1A	OMIM:300590
HP:0008050	Abnormality of the palpebral fissures	8243	SMC1A	OMIM:301044
HP:0008050	Abnormality of the palpebral fissures	7337	UBE3A	ORPHA:238446
HP:0008050	Abnormality of the palpebral fissures	54084	TSPEAR	OMIM:618180
HP:0008050	Abnormality of the palpebral fissures	324	APC	ORPHA:261584
HP:0008050	Abnormality of the palpebral fissures	324	APC	ORPHA:3258
HP:0008050	Abnormality of the palpebral fissures	6309	SC5D	ORPHA:46059
HP:0008050	Abnormality of the palpebral fissures	6309	SC5D	OMIM:607330
HP:0008050	Abnormality of the palpebral fissures	1183	CLCN4	OMIM:300114
HP:0008050	Abnormality of the palpebral fissures	5034	P4HB	ORPHA:2050
HP:0008050	Abnormality of the palpebral fissures	23241	PACS2	OMIM:618067
HP:0008050	Abnormality of the palpebral fissures	26128	KIFBP	OMIM:609460
HP:0008050	Abnormality of the palpebral fissures	161742	SPRED1	OMIM:611431
HP:0008050	Abnormality of the palpebral fissures	84282	RNF135	ORPHA:137634
HP:0008050	Abnormality of the palpebral fissures	8854	ALDH1A2	OMIM:620025
HP:0008050	Abnormality of the palpebral fissures	9839	ZEB2	OMIM:235730
HP:0008050	Abnormality of the palpebral fissures	1299	COL9A3	OMIM:620022
HP:0008050	Abnormality of the palpebral fissures	64324	NSD1	ORPHA:821
HP:0008050	Abnormality of the palpebral fissures	64324	NSD1	OMIM:117550
HP:0008050	Abnormality of the palpebral fissures	64324	NSD1	ORPHA:3447
HP:0008050	Abnormality of the palpebral fissures	29072	SETD2	ORPHA:821
HP:0008050	Abnormality of the palpebral fissures	29072	SETD2	OMIM:620157
HP:0008050	Abnormality of the palpebral fissures	29072	SETD2	OMIM:620155
HP:0008050	Abnormality of the palpebral fissures	29072	SETD2	OMIM:616831
HP:0008050	Abnormality of the palpebral fissures	10297	APC2	ORPHA:821
HP:0008050	Abnormality of the palpebral fissures	4784	NFIX	ORPHA:447980
HP:0008050	Abnormality of the palpebral fissures	4784	NFIX	ORPHA:420179
HP:0008050	Abnormality of the palpebral fissures	4784	NFIX	OMIM:614753
HP:0008050	Abnormality of the palpebral fissures	374654	KIF7	OMIM:200990
HP:0008050	Abnormality of the palpebral fissures	1717	DHCR7	ORPHA:818
HP:0008050	Abnormality of the palpebral fissures	23431	AP4E1	OMIM:613744
HP:0008050	Abnormality of the palpebral fissures	25782	RAB3GAP2	OMIM:212720
HP:0008050	Abnormality of the palpebral fissures	5818	NECTIN1	ORPHA:3253
HP:0008050	Abnormality of the palpebral fissures	150468	CKAP2L	ORPHA:3255
HP:0008050	Abnormality of the palpebral fissures	271	AMPD2	OMIM:615809
HP:0008050	Abnormality of the palpebral fissures	9382	COG1	OMIM:611209
HP:0008050	Abnormality of the palpebral fissures	9382	COG1	ORPHA:263508
HP:0008050	Abnormality of the palpebral fissures	4038	LRP4	ORPHA:3258
HP:0008050	Abnormality of the palpebral fissures	4038	LRP4	OMIM:212780
HP:0008050	Abnormality of the palpebral fissures	6197	RPS6KA3	OMIM:303600
HP:0008050	Abnormality of the palpebral fissures	6197	RPS6KA3	ORPHA:276630
HP:0008050	Abnormality of the palpebral fissures	6197	RPS6KA3	ORPHA:192
HP:0008050	Abnormality of the palpebral fissures	1146	CHRNG	OMIM:265000
HP:0008050	Abnormality of the palpebral fissures	1146	CHRNG	ORPHA:2990
HP:0008050	Abnormality of the palpebral fissures	9739	SETD1A	OMIM:619056
HP:0008050	Abnormality of the palpebral fissures	80204	FBXO11	OMIM:618089
HP:0008050	Abnormality of the palpebral fissures	23522	KAT6B	OMIM:606170
HP:0008050	Abnormality of the palpebral fissures	9184	BUB3	ORPHA:1052
HP:0008050	Abnormality of the palpebral fissures	699	BUB1	ORPHA:1052
HP:0008050	Abnormality of the palpebral fissures	9702	CEP57	ORPHA:1052
HP:0008050	Abnormality of the palpebral fissures	9702	CEP57	OMIM:614114
HP:0008050	Abnormality of the palpebral fissures	9319	TRIP13	ORPHA:1052
HP:0008050	Abnormality of the palpebral fissures	701	BUB1B	ORPHA:1052
HP:0008050	Abnormality of the palpebral fissures	55148	UBR7	OMIM:619189
HP:0008050	Abnormality of the palpebral fissures	10682	EBP	ORPHA:35173
HP:0008050	Abnormality of the palpebral fissures	10682	EBP	OMIM:302960
HP:0008050	Abnormality of the palpebral fissures	55636	CHD7	OMIM:214800
HP:0008050	Abnormality of the palpebral fissures	4036	LRP2	ORPHA:2143
HP:0008050	Abnormality of the palpebral fissures	4036	LRP2	OMIM:222448
HP:0008050	Abnormality of the palpebral fissures	1301	COL11A1	ORPHA:2021
HP:0008050	Abnormality of the palpebral fissures	1302	COL11A2	ORPHA:2021
HP:0008050	Abnormality of the palpebral fissures	657	BMPR1A	ORPHA:79076
HP:0008050	Abnormality of the palpebral fissures	526	ATP6V1B2	ORPHA:3473
HP:0008050	Abnormality of the palpebral fissures	3756	KCNH1	ORPHA:3473
HP:0008050	Abnormality of the palpebral fissures	3782	KCNN3	ORPHA:3473
HP:0008050	Abnormality of the palpebral fissures	3265	HRAS	OMIM:218040
HP:0008050	Abnormality of the palpebral fissures	2697	GJA1	OMIM:257850
HP:0008050	Abnormality of the palpebral fissures	6234	RPS28	OMIM:606164
HP:0008050	Abnormality of the palpebral fissures	4953	ODC1	OMIM:619075
HP:0008050	Abnormality of the palpebral fissures	4953	ODC1	ORPHA:544488
HP:0008050	Abnormality of the palpebral fissures	197257	LDHD	OMIM:245450
HP:0008050	Abnormality of the palpebral fissures	1857	DVL3	ORPHA:3107
HP:0008050	Abnormality of the palpebral fissures	2535	FZD2	ORPHA:3107
HP:0008050	Abnormality of the palpebral fissures	6660	SOX5	OMIM:616803
HP:0008050	Abnormality of the palpebral fissures	26053	AUTS2	OMIM:615834
HP:0008050	Abnormality of the palpebral fissures	8239	USP9X	ORPHA:480880
HP:0008050	Abnormality of the palpebral fissures	285175	UNC80	OMIM:616801
HP:0008050	Abnormality of the palpebral fissures	285175	UNC80	ORPHA:371364
HP:0008050	Abnormality of the palpebral fissures	11128	POLR3A	OMIM:264090
HP:0008050	Abnormality of the palpebral fissures	8085	KMT2D	OMIM:620186
HP:0008050	Abnormality of the palpebral fissures	55719	SLF2	OMIM:620184
HP:0008050	Abnormality of the palpebral fissures	55027	HEATR3	OMIM:620072
HP:0008050	Abnormality of the palpebral fissures	283209	PGM2L1	OMIM:620191
HP:0008050	Abnormality of the palpebral fissures	78989	COLEC11	OMIM:265050
HP:0008050	Abnormality of the palpebral fissures	78989	COLEC11	ORPHA:293843
HP:0008050	Abnormality of the palpebral fissures	4094	MAF	ORPHA:1272
HP:0008050	Abnormality of the palpebral fissures	4094	MAF	OMIM:601088
HP:0008050	Abnormality of the palpebral fissures	5594	MAPK1	OMIM:619087
HP:0008050	Abnormality of the palpebral fissures	23261	CAMTA1	OMIM:614756
HP:0008050	Abnormality of the palpebral fissures	54499	TMCO1	ORPHA:1394
HP:0008050	Abnormality of the palpebral fissures	10430	TMEM147	OMIM:620075
HP:0008050	Abnormality of the palpebral fissures	3187	HNRNPH1	OMIM:620083
HP:0008050	Abnormality of the palpebral fissures	51322	WAC	ORPHA:284169
HP:0008050	Abnormality of the palpebral fissures	81031	SLC2A10	OMIM:208050
HP:0008050	Abnormality of the palpebral fissures	9652	SKIC3	OMIM:222470
HP:0008050	Abnormality of the palpebral fissures	8504	PEX3	OMIM:614882
HP:0008050	Abnormality of the palpebral fissures	2146	EZH2	OMIM:277590
HP:0008050	Abnormality of the palpebral fissures	2146	EZH2	ORPHA:3447
HP:0008050	Abnormality of the palpebral fissures	545	ATR	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	545	ATR	OMIM:210600
HP:0008050	Abnormality of the palpebral fissures	1062	CENPE	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	5116	PCNT	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	5116	PCNT	ORPHA:2637
HP:0008050	Abnormality of the palpebral fissures	5932	RBBP8	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	79902	NUP85	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	84126	ATRIP	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	55835	CENPJ	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	10293	TRAIP	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	10733	PLK4	ORPHA:808
HP:0008050	Abnormality of the palpebral fissures	84317	CCDC115	OMIM:616828
HP:0008050	Abnormality of the palpebral fissures	79791	FBXO31	OMIM:615979
HP:0008050	Abnormality of the palpebral fissures	157570	ESCO2	OMIM:268300
HP:0008050	Abnormality of the palpebral fissures	5631	PRPS1	OMIM:300661
HP:0008050	Abnormality of the palpebral fissures	29123	ANKRD11	OMIM:148050
HP:0008050	Abnormality of the palpebral fissures	22907	DHX30	OMIM:617804
HP:0008050	Abnormality of the palpebral fissures	51053	GMNN	OMIM:616835
HP:0008050	Abnormality of the palpebral fissures	2245	FGD1	ORPHA:915
HP:0008050	Abnormality of the palpebral fissures	2245	FGD1	OMIM:305400
HP:0008050	Abnormality of the palpebral fissures	6497	SKI	ORPHA:2462
HP:0008050	Abnormality of the palpebral fissures	6497	SKI	OMIM:182212
HP:0008050	Abnormality of the palpebral fissures	196528	ARID2	OMIM:617808
HP:0008050	Abnormality of the palpebral fissures	3720	JARID2	OMIM:620098
HP:0008050	Abnormality of the palpebral fissures	10075	HUWE1	OMIM:309590
HP:0008050	Abnormality of the palpebral fissures	5648	MASP1	OMIM:257920
HP:0008050	Abnormality of the palpebral fissures	5648	MASP1	ORPHA:293843
HP:0008050	Abnormality of the palpebral fissures	23394	ADNP	OMIM:615873
HP:0008050	Abnormality of the palpebral fissures	11133	KPTN	OMIM:615637
HP:0008050	Abnormality of the palpebral fissures	11133	KPTN	ORPHA:397612
HP:0008050	Abnormality of the palpebral fissures	65062	TMEM237	OMIM:614424
HP:0008050	Abnormality of the palpebral fissures	23028	KDM1A	OMIM:616728
HP:0008050	Abnormality of the palpebral fissures	23028	KDM1A	ORPHA:477993
HP:0008050	Abnormality of the palpebral fissures	55593	OTUD5	OMIM:301056
HP:0008050	Abnormality of the palpebral fissures	4854	NOTCH3	OMIM:130720
HP:0008050	Abnormality of the palpebral fissures	4854	NOTCH3	ORPHA:2789
HP:0008050	Abnormality of the palpebral fissures	473	RERE	OMIM:616975
HP:0008050	Abnormality of the palpebral fissures	83479	DDX59	OMIM:174300
HP:0008050	Abnormality of the palpebral fissures	998	CDC42	OMIM:616737
HP:0008050	Abnormality of the palpebral fissures	998	CDC42	ORPHA:487796
HP:0008050	Abnormality of the palpebral fissures	10982	MAPRE2	OMIM:616734
HP:0008050	Abnormality of the palpebral fissures	4297	KMT2A	OMIM:605130
HP:0008050	Abnormality of the palpebral fissures	101929726	MYMX	ORPHA:1358
HP:0008050	Abnormality of the palpebral fissures	84679	SLC9A7	OMIM:301024
HP:0008050	Abnormality of the palpebral fissures	90161	HS6ST2	OMIM:301025
HP:0008050	Abnormality of the palpebral fissures	63035	BCORL1	OMIM:301029
HP:0008050	Abnormality of the palpebral fissures	1778	DYNC1H1	OMIM:614563
HP:0008050	Abnormality of the palpebral fissures	5604	MAP2K1	ORPHA:1340
HP:0008050	Abnormality of the palpebral fissures	5604	MAP2K1	OMIM:163950
HP:0008050	Abnormality of the palpebral fissures	1000	CDH2	OMIM:618929
HP:0008050	Abnormality of the palpebral fissures	2248	FGF3	ORPHA:90024
HP:0008050	Abnormality of the palpebral fissures	10943	MSL3	OMIM:301032
HP:0008050	Abnormality of the palpebral fissures	5718	PSMD12	ORPHA:529962
HP:0008050	Abnormality of the palpebral fissures	2186	BPTF	ORPHA:529962
HP:0008050	Abnormality of the palpebral fissures	55644	OSGEP	OMIM:617729
HP:0008050	Abnormality of the palpebral fissures	2313	FLI1	ORPHA:2308
HP:0008050	Abnormality of the palpebral fissures	538	ATP7A	ORPHA:198
HP:0008050	Abnormality of the palpebral fissures	6628	SNRPB	OMIM:117650
HP:0008050	Abnormality of the palpebral fissures	8929	PHOX2B	OMIM:209880
HP:0008050	Abnormality of the palpebral fissures	29957	SLC25A24	OMIM:612289
HP:0008050	Abnormality of the palpebral fissures	91461	PKDCC	OMIM:618821
HP:0008050	Abnormality of the palpebral fissures	4329	ALDH6A1	OMIM:614105
HP:0008050	Abnormality of the palpebral fissures	80152	CENPT	OMIM:618702
HP:0008050	Abnormality of the palpebral fissures	8405	SPOP	OMIM:618828
HP:0008050	Abnormality of the palpebral fissures	26047	CNTNAP2	ORPHA:163681
HP:0008050	Abnormality of the palpebral fissures	23630	KCNE5	ORPHA:86818
HP:0008050	Abnormality of the palpebral fissures	2182	ACSL4	ORPHA:86818
HP:0008050	Abnormality of the palpebral fissures	55617	TASP1	OMIM:618950
HP:0008050	Abnormality of the palpebral fissures	100151683	RNU4ATAC	OMIM:616651
HP:0008050	Abnormality of the palpebral fissures	100151683	RNU4ATAC	ORPHA:2636
HP:0008050	Abnormality of the palpebral fissures	1806	DPYD	ORPHA:1675
HP:0008050	Abnormality of the palpebral fissures	5500	PPP1CB	OMIM:617506
HP:0008050	Abnormality of the palpebral fissures	113246	C12orf57	OMIM:218340
HP:0008050	Abnormality of the palpebral fissures	2273	FHL1	OMIM:300280
HP:0008050	Abnormality of the palpebral fissures	4841	NONO	ORPHA:466791
HP:0008050	Abnormality of the palpebral fissures	529	ATP6V1E1	ORPHA:357074
HP:0008050	Abnormality of the palpebral fissures	158326	FREM1	OMIM:614485
HP:0008050	Abnormality of the palpebral fissures	4000	LMNA	ORPHA:1662
HP:0008050	Abnormality of the palpebral fissures	10269	ZMPSTE24	ORPHA:1662
HP:0008050	Abnormality of the palpebral fissures	8777	MPDZ	OMIM:615219
HP:0008050	Abnormality of the palpebral fissures	10584	COLEC10	ORPHA:293843
HP:0008050	Abnormality of the palpebral fissures	3778	KCNMA1	OMIM:618729
HP:0008050	Abnormality of the palpebral fissures	71	ACTG1	ORPHA:2995
HP:0008050	Abnormality of the palpebral fissures	60	ACTB	ORPHA:2995
HP:0008050	Abnormality of the palpebral fissures	6223	RPS19	OMIM:105650
HP:0008050	Abnormality of the palpebral fissures	9469	CHST3	OMIM:245600
HP:0008050	Abnormality of the palpebral fissures	26229	B3GAT3	OMIM:245600
HP:0008050	Abnormality of the palpebral fissures	5307	PITX1	OMIM:119800
HP:0008050	Abnormality of the palpebral fissures	18	ABAT	OMIM:613163
HP:0008050	Abnormality of the palpebral fissures	3832	KIF11	OMIM:152950
HP:0008050	Abnormality of the palpebral fissures	7043	TGFB3	OMIM:615582
HP:0008050	Abnormality of the palpebral fissures	7545	ZIC1	OMIM:618736
HP:0008050	Abnormality of the palpebral fissures	4281	MID1	ORPHA:2745
HP:0008050	Abnormality of the palpebral fissures	4858	NOVA2	OMIM:618859
HP:0008050	Abnormality of the palpebral fissures	9181	ARHGEF2	OMIM:617523
HP:0008050	Abnormality of the palpebral fissures	4654	MYOD1	OMIM:618975
HP:0008050	Abnormality of the palpebral fissures	55753	OGDHL	OMIM:619701
HP:0008050	Abnormality of the palpebral fissures	58499	ZNF462	OMIM:618619
HP:0008050	Abnormality of the palpebral fissures	27316	RBMX	OMIM:300238
HP:0008050	Abnormality of the palpebral fissures	199857	ALG14	OMIM:619036
HP:0008050	Abnormality of the palpebral fissures	10992	SF3B2	OMIM:164210
HP:0008050	Abnormality of the palpebral fissures	64220	STRA6	OMIM:601186
HP:0008050	Abnormality of the palpebral fissures	613	BCR	ORPHA:261330
HP:0008050	Abnormality of the palpebral fissures	1399	CRKL	ORPHA:261330
HP:0008050	Abnormality of the palpebral fissures	6662	SOX9	OMIM:114290
HP:0008050	Abnormality of the palpebral fissures	7841	MOGS	OMIM:606056
HP:0008050	Abnormality of the palpebral fissures	8642	DCHS1	OMIM:601390
HP:0008050	Abnormality of the palpebral fissures	8642	DCHS1	ORPHA:314679
HP:0008050	Abnormality of the palpebral fissures	1123	CHN1	ORPHA:233
HP:0008050	Abnormality of the palpebral fissures	2074	ERCC6	OMIM:214150
HP:0008050	Abnormality of the palpebral fissures	54888	NSUN2	ORPHA:235
HP:0008050	Abnormality of the palpebral fissures	54888	NSUN2	OMIM:611091
HP:0008050	Abnormality of the palpebral fissures	4593	MUSK	OMIM:208150
HP:0008050	Abnormality of the palpebral fissures	6608	SMO	OMIM:601707
HP:0008050	Abnormality of the palpebral fissures	79633	FAT4	OMIM:616006
HP:0008050	Abnormality of the palpebral fissures	79633	FAT4	ORPHA:314679
HP:0008050	Abnormality of the palpebral fissures	79633	FAT4	OMIM:615546
HP:0008050	Abnormality of the palpebral fissures	6804	STX1A	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	7461	CLIP2	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	84277	DNAJC30	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	8468	FKBP6	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	5982	RFC2	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	2969	GTF2I	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	3984	LIMK1	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	9569	GTF2IRD1	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	155382	VPS37D	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	155368	METTL27	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	114049	BUD23	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	7458	EIF4H	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	84163	GTF2IRD2	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	9275	BCL7B	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	26608	TBL2	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	653361	NCF1	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	135886	TMEM270	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	51085	MLXIPL	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	51085	MLXIPL	OMIM:194050
HP:0008050	Abnormality of the palpebral fissures	9031	BAZ1B	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	2006	ELN	ORPHA:904
HP:0008050	Abnormality of the palpebral fissures	2006	ELN	OMIM:194050
HP:0008050	Abnormality of the palpebral fissures	10907	TXNL4A	OMIM:608572
HP:0008050	Abnormality of the palpebral fissures	4089	SMAD4	OMIM:139210
HP:0008050	Abnormality of the palpebral fissures	4089	SMAD4	ORPHA:2588
HP:0008050	Abnormality of the palpebral fissures	7358	UGDH	OMIM:618792
HP:0008050	Abnormality of the palpebral fissures	9993	DGCR2	OMIM:192430
HP:0008050	Abnormality of the palpebral fissures	8220	ESS2	OMIM:192430
HP:0008050	Abnormality of the palpebral fissures	8214	DGCR6	OMIM:192430
HP:0008050	Abnormality of the palpebral fissures	54487	DGCR8	OMIM:192430
HP:0008050	Abnormality of the palpebral fissures	388015	RTL1	ORPHA:96334
HP:0008050	Abnormality of the palpebral fissures	8788	DLK1	ORPHA:96334
HP:0008050	Abnormality of the palpebral fissures	55384	MEG3	ORPHA:96334
HP:0008050	Abnormality of the palpebral fissures	63895	PIEZO2	OMIM:248700
HP:0008050	Abnormality of the palpebral fissures	63895	PIEZO2	ORPHA:2461
HP:0008050	Abnormality of the palpebral fissures	63895	PIEZO2	OMIM:108145
HP:0008050	Abnormality of the palpebral fissures	3339	HSPG2	OMIM:255800
HP:0008050	Abnormality of the palpebral fissures	3339	HSPG2	ORPHA:800
HP:0008050	Abnormality of the palpebral fissures	84295	PHF6	ORPHA:127
HP:0008050	Abnormality of the palpebral fissures	84295	PHF6	OMIM:301900
HP:0008050	Abnormality of the palpebral fissures	27238	GPKOW	ORPHA:2570
HP:0008050	Abnormality of the palpebral fissures	1788	DNMT3A	OMIM:615879
HP:0008050	Abnormality of the palpebral fissures	8626	TP63	OMIM:604292
HP:0008050	Abnormality of the palpebral fissures	91179	SCARF2	OMIM:600920
HP:0008050	Abnormality of the palpebral fissures	2067	ERCC1	OMIM:610758
HP:0008050	Abnormality of the palpebral fissures	4998	ORC1	OMIM:224690
HP:0008050	Abnormality of the palpebral fissures	10265	IRX5	OMIM:611174
HP:0008050	Abnormality of the palpebral fissures	10082	GPC6	OMIM:258315
HP:0008050	Abnormality of the palpebral fissures	3759	KCNJ2	OMIM:170390
HP:0008050	Abnormality of the palpebral fissures	29895	MYL11	OMIM:619110
HP:0008050	Abnormality of the palpebral fissures	22931	RAB18	OMIM:614222
HP:0008050	Abnormality of the palpebral fissures	284252	KCTD1	OMIM:181270
HP:0008050	Abnormality of the palpebral fissures	54880	BCOR	OMIM:300166
HP:0008050	Abnormality of the palpebral fissures	6299	SALL1	ORPHA:857
HP:0008050	Abnormality of the palpebral fissures	51339	DACT1	ORPHA:857
HP:0008050	Abnormality of the palpebral fissures	5557	PRIM1	OMIM:620005
HP:0008050	Abnormality of the palpebral fissures	6913	TBX15	ORPHA:93333
HP:0008050	Abnormality of the palpebral fissures	6913	TBX15	OMIM:260660
HP:0008050	Abnormality of the palpebral fissures	23102	TBC1D2B	ORPHA:397973
HP:0008050	Abnormality of the palpebral fissures	4921	DDR2	OMIM:618175
HP:0008050	Abnormality of the palpebral fissures	104	ADARB1	OMIM:618862
HP:0008050	Abnormality of the palpebral fissures	5885	RAD21	OMIM:614701
HP:0008050	Abnormality of the palpebral fissures	57539	WDR35	OMIM:613610
HP:0008050	Abnormality of the palpebral fissures	4897	NRCAM	OMIM:619833
HP:0008050	Abnormality of the palpebral fissures	145173	B3GLCT	ORPHA:709
HP:0008050	Abnormality of the palpebral fissures	145173	B3GLCT	OMIM:261540
HP:0008050	Abnormality of the palpebral fissures	7109	TRAPPC10	OMIM:620027
HP:0008050	Abnormality of the palpebral fissures	7109	TRAPPC10	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	55733	HHAT	OMIM:600092
HP:0008050	Abnormality of the palpebral fissures	7518	XRCC4	ORPHA:99812
HP:0008050	Abnormality of the palpebral fissures	3981	LIG4	ORPHA:99812
HP:0008050	Abnormality of the palpebral fissures	3981	LIG4	OMIM:606593
HP:0008050	Abnormality of the palpebral fissures	4774	NFIA	OMIM:613735
HP:0008050	Abnormality of the palpebral fissures	5830	PEX5	OMIM:214110
HP:0008050	Abnormality of the palpebral fissures	5830	PEX5	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	10084	PQBP1	ORPHA:93950
HP:0008050	Abnormality of the palpebral fissures	10084	PQBP1	ORPHA:93947
HP:0008050	Abnormality of the palpebral fissures	10084	PQBP1	OMIM:309500
HP:0008050	Abnormality of the palpebral fissures	197131	UBR1	OMIM:243800
HP:0008050	Abnormality of the palpebral fissures	89910	UBE3B	OMIM:244450
HP:0008050	Abnormality of the palpebral fissures	89910	UBE3B	ORPHA:2707
HP:0008050	Abnormality of the palpebral fissures	283489	CHAMP1	OMIM:616579
HP:0008050	Abnormality of the palpebral fissures	80055	PGAP1	OMIM:615802
HP:0008050	Abnormality of the palpebral fissures	2314	FLII	ORPHA:819
HP:0008050	Abnormality of the palpebral fissures	23096	IQSEC2	ORPHA:819
HP:0008050	Abnormality of the palpebral fissures	10522	DEAF1	ORPHA:819
HP:0008050	Abnormality of the palpebral fissures	10522	DEAF1	OMIM:615828
HP:0008050	Abnormality of the palpebral fissures	10225	CD96	OMIM:211750
HP:0008050	Abnormality of the palpebral fissures	10225	CD96	ORPHA:1308
HP:0008050	Abnormality of the palpebral fissures	5189	PEX1	OMIM:214100
HP:0008050	Abnormality of the palpebral fissures	5189	PEX1	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	55650	PIGV	OMIM:239300
HP:0008050	Abnormality of the palpebral fissures	55650	PIGV	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	84992	PIGY	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	84720	PIGO	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	84720	PIGO	OMIM:614749
HP:0008050	Abnormality of the palpebral fissures	93210	PGAP3	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	93210	PGAP3	OMIM:615716
HP:0008050	Abnormality of the palpebral fissures	284098	PIGW	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	27315	PGAP2	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	9487	PIGL	ORPHA:247262
HP:0008050	Abnormality of the palpebral fissures	9487	PIGL	ORPHA:3474
HP:0008050	Abnormality of the palpebral fissures	4001	LMNB1	OMIM:619179
HP:0008050	Abnormality of the palpebral fissures	284058	KANSL1	ORPHA:363958
HP:0008050	Abnormality of the palpebral fissures	284058	KANSL1	ORPHA:363965
HP:0008050	Abnormality of the palpebral fissures	284058	KANSL1	OMIM:610443
HP:0008050	Abnormality of the palpebral fissures	8913	CACNA1G	OMIM:618087
HP:0008050	Abnormality of the palpebral fissures	672	BRCA1	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	672	BRCA1	OMIM:617883
HP:0008050	Abnormality of the palpebral fissures	10459	MAD2L2	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	7516	XRCC2	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	29089	UBE2T	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	675	BRCA2	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	55120	FANCL	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	55120	FANCL	OMIM:614083
HP:0008050	Abnormality of the palpebral fissures	2177	FANCD2	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2175	FANCA	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2187	FANCB	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2176	FANCC	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2178	FANCE	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2188	FANCF	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2189	FANCG	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	5888	RAD51	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	5889	RAD51C	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	55159	RFWD3	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	83990	BRIP1	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	57697	FANCM	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	79728	PALB2	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	84464	SLX4	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	2072	ERCC4	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	55215	FANCI	ORPHA:84
HP:0008050	Abnormality of the palpebral fissures	5191	PEX7	OMIM:215100
HP:0008050	Abnormality of the palpebral fissures	8546	AP3B1	OMIM:608233
HP:0008050	Abnormality of the palpebral fissures	7020	TFAP2A	OMIM:113620
HP:0008050	Abnormality of the palpebral fissures	7020	TFAP2A	ORPHA:1297
HP:0008050	Abnormality of the palpebral fissures	9896	FIG4	ORPHA:3472
HP:0008050	Abnormality of the palpebral fissures	9896	FIG4	OMIM:216340
HP:0008050	Abnormality of the palpebral fissures	55697	VAC14	ORPHA:3472
HP:0008050	Abnormality of the palpebral fissures	10087	CERT1	OMIM:616351
HP:0008050	Abnormality of the palpebral fissures	4212	MEIS2	OMIM:600987
HP:0008050	Abnormality of the palpebral fissures	23036	ZNF292	OMIM:619188
HP:0008050	Abnormality of the palpebral fissures	79813	EHMT1	OMIM:610253
HP:0008050	Abnormality of the palpebral fissures	93627	TBCK	ORPHA:488632
HP:0008050	Abnormality of the palpebral fissures	1954	MEGF8	OMIM:614976
HP:0008050	Abnormality of the palpebral fissures	84300	UQCC2	OMIM:615824
HP:0008050	Abnormality of the palpebral fissures	2783	GNB2	OMIM:619503
HP:0008050	Abnormality of the palpebral fissures	26057	ANKRD17	OMIM:619504
HP:0008050	Abnormality of the palpebral fissures	26005	C2CD3	OMIM:615948
HP:0008050	Abnormality of the palpebral fissures	26005	C2CD3	ORPHA:434179
HP:0008050	Abnormality of the palpebral fissures	1174	AP1S1	OMIM:609313
HP:0008050	Abnormality of the palpebral fissures	3192	HNRNPU	ORPHA:238769
HP:0008050	Abnormality of the palpebral fissures	9653	HS2ST1	OMIM:619194
HP:0008050	Abnormality of the palpebral fissures	10801	SEPTIN9	OMIM:162100
HP:0008050	Abnormality of the palpebral fissures	7025	NR2F1	ORPHA:401777
HP:0008050	Abnormality of the palpebral fissures	7025	NR2F1	OMIM:615722
HP:0008050	Abnormality of the palpebral fissures	26038	CHD5	OMIM:619873
HP:0008050	Abnormality of the palpebral fissures	3043	HBB	ORPHA:231214
HP:0008050	Abnormality of the palpebral fissures	3043	HBB	ORPHA:231226
HP:0008050	Abnormality of the palpebral fissures	84879	MFSD2A	OMIM:616486
HP:0008050	Abnormality of the palpebral fissures	84879	MFSD2A	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	5063	PAK3	OMIM:300558
HP:0008050	Abnormality of the palpebral fissures	5190	PEX6	OMIM:614862
HP:0008050	Abnormality of the palpebral fissures	5190	PEX6	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	8363	H4C11	OMIM:619759
HP:0008050	Abnormality of the palpebral fissures	116115	ZNF526	OMIM:619877
HP:0008050	Abnormality of the palpebral fissures	8364	H4C3	OMIM:619758
HP:0008050	Abnormality of the palpebral fissures	286	ANK1	ORPHA:251066
HP:0008050	Abnormality of the palpebral fissures	9719	ADAMTSL2	OMIM:231050
HP:0008050	Abnormality of the palpebral fissures	10236	HNRNPR	OMIM:620073
HP:0008050	Abnormality of the palpebral fissures	51611	DPH5	OMIM:620070
HP:0008050	Abnormality of the palpebral fissures	55210	ATAD3A	ORPHA:496790
HP:0008050	Abnormality of the palpebral fissures	55210	ATAD3A	OMIM:617183
HP:0008050	Abnormality of the palpebral fissures	57459	GATAD2B	ORPHA:363686
HP:0008050	Abnormality of the palpebral fissures	56098	PCDHGC4	OMIM:619880
HP:0008050	Abnormality of the palpebral fissures	113179	ADAT3	OMIM:615286
HP:0008050	Abnormality of the palpebral fissures	113179	ADAT3	ORPHA:363528
HP:0008050	Abnormality of the palpebral fissures	4849	CNOT3	OMIM:618672
HP:0008050	Abnormality of the palpebral fissures	182	JAG1	OMIM:118450
HP:0008050	Abnormality of the palpebral fissures	6925	TCF4	OMIM:610954
HP:0008050	Abnormality of the palpebral fissures	6925	TCF4	ORPHA:2896
HP:0008050	Abnormality of the palpebral fissures	4208	MEF2C	ORPHA:228384
HP:0008050	Abnormality of the palpebral fissures	4208	MEF2C	OMIM:613443
HP:0008050	Abnormality of the palpebral fissures	5373	PMM2	ORPHA:79318
HP:0008050	Abnormality of the palpebral fissures	4677	NARS1	OMIM:619092
HP:0008050	Abnormality of the palpebral fissures	8242	KDM5C	OMIM:300534
HP:0008050	Abnormality of the palpebral fissures	23162	MAPK8IP3	OMIM:618443
HP:0008050	Abnormality of the palpebral fissures	79989	IFT56	OMIM:619534
HP:0008050	Abnormality of the palpebral fissures	23483	TGDS	OMIM:616145
HP:0008050	Abnormality of the palpebral fissures	10463	SLC30A9	OMIM:617595
HP:0008050	Abnormality of the palpebral fissures	546	ATRX	OMIM:309580
HP:0008050	Abnormality of the palpebral fissures	64919	BCL11B	OMIM:617237
HP:0008050	Abnormality of the palpebral fissures	92154	MTSS2	OMIM:620086
HP:0008050	Abnormality of the palpebral fissures	7546	ZIC2	OMIM:609637
HP:0008050	Abnormality of the palpebral fissures	171023	ASXL1	OMIM:605039
HP:0008050	Abnormality of the palpebral fissures	55023	PHIP	ORPHA:589905
HP:0008050	Abnormality of the palpebral fissures	55023	PHIP	OMIM:617991
HP:0008050	Abnormality of the palpebral fissures	8295	TRRAP	OMIM:618454
HP:0008050	Abnormality of the palpebral fissures	9742	IFT140	OMIM:266920
HP:0008050	Abnormality of the palpebral fissures	8621	CDK13	OMIM:617360
HP:0008050	Abnormality of the palpebral fissures	79228	THOC6	OMIM:613680
HP:0008050	Abnormality of the palpebral fissures	54101	RIPK4	OMIM:263650
HP:0008050	Abnormality of the palpebral fissures	60529	ALX4	ORPHA:228390
HP:0008050	Abnormality of the palpebral fissures	60529	ALX4	OMIM:613451
HP:0008050	Abnormality of the palpebral fissures	2702	GJA5	OMIM:612474
HP:0008050	Abnormality of the palpebral fissures	2703	GJA8	OMIM:612474
HP:0008050	Abnormality of the palpebral fissures	1642	DDB1	OMIM:619426
HP:0008050	Abnormality of the palpebral fissures	7319	UBE2A	ORPHA:163956
HP:0008050	Abnormality of the palpebral fissures	7319	UBE2A	OMIM:300860
HP:0008050	Abnormality of the palpebral fissures	55770	EXOC2	OMIM:619306
HP:0008050	Abnormality of the palpebral fissures	55670	PEX26	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5824	PEX19	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5828	PEX2	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	8799	PEX11B	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	9409	PEX16	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5193	PEX12	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5194	PEX13	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5195	PEX14	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	5192	PEX10	ORPHA:912
HP:0008050	Abnormality of the palpebral fissures	9230	RAB11B	OMIM:617807
HP:0008050	Abnormality of the palpebral fissures	55081	IFT57	OMIM:617927
HP:0008050	Abnormality of the palpebral fissures	9488	PIGB	OMIM:618580
HP:0008050	Abnormality of the palpebral fissures	91949	COG7	OMIM:608779
HP:0008050	Abnormality of the palpebral fissures	1281	COL3A1	OMIM:618343
HP:0008050	Abnormality of the palpebral fissures	1859	DYRK1A	ORPHA:268261
HP:0008050	Abnormality of the palpebral fissures	4683	NBN	OMIM:251260
HP:0008050	Abnormality of the palpebral fissures	4683	NBN	ORPHA:647
HP:0008050	Abnormality of the palpebral fissures	9759	HDAC4	ORPHA:1001
HP:0008050	Abnormality of the palpebral fissures	9759	HDAC4	OMIM:600430
HP:0008050	Abnormality of the palpebral fissures	50814	NSDHL	ORPHA:251383
HP:0008050	Abnormality of the palpebral fissures	50814	NSDHL	OMIM:300831
HP:0008050	Abnormality of the palpebral fissures	7681	MKRN3	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	3653	IPW	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	54551	MAGEL2	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	791114	PWRN1	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	100033413	SNORD116-1	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	8924	HERC2	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	145624	PWAR1	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	23742	NPAP1	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	338433	SNORD115-1	OMIM:176270
HP:0008050	Abnormality of the palpebral fissures	5575	PRKAR1B	OMIM:619680
HP:0008050	Abnormality of the palpebral fissures	2623	GATA1	OMIM:190685
HP:0008050	Abnormality of the palpebral fissures	23030	KDM4B	OMIM:619320
HP:0008050	Abnormality of the palpebral fissures	6492	SIM1	ORPHA:171829
HP:0008050	Abnormality of the palpebral fissures	84162	BLTP1	OMIM:617822
HP:0008050	Abnormality of the palpebral fissures	55784	MCTP2	ORPHA:1596
HP:0008050	Abnormality of the palpebral fissures	3097	HIVEP2	OMIM:616977
HP:0008050	Abnormality of the palpebral fissures	4952	OCRL	ORPHA:534
HP:0008050	Abnormality of the palpebral fissures	6904	TBCD	ORPHA:496641
HP:0008050	Abnormality of the palpebral fissures	6904	TBCD	OMIM:617193
HP:0008050	Abnormality of the palpebral fissures	1741	DLG3	OMIM:300850
HP:0008050	Abnormality of the palpebral fissures	51116	MRPS2	OMIM:617950
HP:0008050	Abnormality of the palpebral fissures	55906	ZC4H2	OMIM:314580
HP:0008050	Abnormality of the palpebral fissures	92255	LMBRD2	OMIM:619694
HP:0008050	Abnormality of the palpebral fissures	1108	CHD4	OMIM:617159
HP:0008050	Abnormality of the palpebral fissures	23389	MED13L	ORPHA:369891
HP:0008050	Abnormality of the palpebral fissures	23389	MED13L	OMIM:616789
HP:0008050	Abnormality of the palpebral fissures	9241	NOG	OMIM:186500
HP:0008050	Abnormality of the palpebral fissures	22827	PUF60	ORPHA:508488
HP:0008050	Abnormality of the palpebral fissures	1781	DYNC1I2	OMIM:618492
HP:0008050	Abnormality of the palpebral fissures	5422	POLA1	OMIM:301030
HP:0008050	Abnormality of the palpebral fissures	9451	EIF2AK3	OMIM:226980
HP:0008050	Abnormality of the palpebral fissures	5277	PIGA	OMIM:300868
HP:0008050	Abnormality of the palpebral fissures	25	ABL1	OMIM:617602
HP:0008050	Abnormality of the palpebral fissures	4613	MYCN	OMIM:164280
HP:0008050	Abnormality of the palpebral fissures	29980	DONSON	OMIM:617604
HP:0008050	Abnormality of the palpebral fissures	6638	SNRPN	ORPHA:177907
HP:0008050	Abnormality of the palpebral fissures	59336	PRDM13	OMIM:619909
HP:0008050	Abnormality of the palpebral fissures	10771	ZMYND11	OMIM:616083
HP:0008050	Abnormality of the palpebral fissures	6611	SMS	ORPHA:3063
HP:0008050	Abnormality of the palpebral fissures	11212	PLPBP	OMIM:617290
HP:0008050	Abnormality of the palpebral fissures	84265	POLR3GL	OMIM:619234
HP:0008050	Abnormality of the palpebral fissures	348180	CTU2	OMIM:618142
HP:0008050	Abnormality of the palpebral fissures	51604	PIGT	ORPHA:369837
HP:0008050	Abnormality of the palpebral fissures	6711	SPTBN1	OMIM:619475
HP:0008050	Abnormality of the palpebral fissures	1861	TOR1A	OMIM:618947
HP:0008050	Abnormality of the palpebral fissures	4659	PPP1R12A	OMIM:618820
HP:0008050	Abnormality of the palpebral fissures	9894	TELO2	ORPHA:488642
HP:0008050	Abnormality of the palpebral fissures	80036	TRPM3	OMIM:620224
HP:0008050	Abnormality of the palpebral fissures	25914	RTTN	ORPHA:468631
HP:0008050	Abnormality of the palpebral fissures	8936	WASF1	OMIM:618707
HP:0008050	Abnormality of the palpebral fissures	63932	STEEP1	OMIM:301013
HP:0008050	Abnormality of the palpebral fissures	23556	PIGN	ORPHA:280633
HP:0008050	Abnormality of the palpebral fissures	203068	TUBB	OMIM:156610
HP:0008050	Abnormality of the palpebral fissures	54870	QRICH1	OMIM:617982
HP:0008050	Abnormality of the palpebral fissures	9508	ADAMTS3	OMIM:618154
HP:0008050	Abnormality of the palpebral fissures	90416	CCDC32	OMIM:619123
HP:0008050	Abnormality of the palpebral fissures	6911	TBX6	ORPHA:1797
HP:0008050	Abnormality of the palpebral fissures	10551	AGR2	OMIM:620233
HP:0008050	Abnormality of the palpebral fissures	9320	TRIP12	OMIM:617752
HP:0008050	Abnormality of the palpebral fissures	1315	COPB1	OMIM:619255
HP:0008050	Abnormality of the palpebral fissures	1748	DLX4	OMIM:616788
HP:0008050	Abnormality of the palpebral fissures	4724	NDUFS4	OMIM:252010
HP:0008050	Abnormality of the palpebral fissures	3295	HSD17B4	OMIM:261515
HP:0008050	Abnormality of the palpebral fissures	4848	CNOT2	OMIM:618608
HP:0008050	Abnormality of the palpebral fissures	9276	COPB2	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	11113	CIT	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	9928	KIF14	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	284403	WDR62	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	55262	TRAPPC14	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	163786	SASS6	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	4176	MCM7	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	80254	CEP63	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	29081	METTL5	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	23310	NCAPD3	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	55755	CDK5RAP2	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	79648	MCPH1	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	6491	STIL	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	23141	ANKLE2	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	259266	ASPM	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	1911	PHC1	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	6884	TAF13	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	9662	CEP135	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	57082	KNL1	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	1021	CDK6	ORPHA:2512
HP:0008050	Abnormality of the palpebral fissures	23133	PHF8	OMIM:300263
HP:0008050	Abnormality of the palpebral fissures	11011	TLK2	OMIM:618050
HP:0008050	Abnormality of the palpebral fissures	4204	MECP2	OMIM:300260
HP:0008050	Abnormality of the palpebral fissures	129285	PPP1R21	OMIM:619383
HP:0008050	Abnormality of the palpebral fissures	114034	TOE1	ORPHA:284339
HP:0008050	Abnormality of the palpebral fissures	9562	MINPP1	ORPHA:284339
HP:0008050	Abnormality of the palpebral fissures	11141	IL1RAPL1	OMIM:300143
HP:0008050	Abnormality of the palpebral fissures	27161	AGO2	OMIM:619149
HP:0008050	Abnormality of the palpebral fissures	23404	EXOSC2	OMIM:617763
HP:0008050	Abnormality of the palpebral fissures	10844	TUBGCP2	OMIM:618737
HP:0008050	Abnormality of the palpebral fissures	84148	KAT8	OMIM:618974
HP:0008050	Abnormality of the palpebral fissures	3480	IGF1R	OMIM:270450
HP:0008050	Abnormality of the palpebral fissures	8812	CCNK	OMIM:618147
HP:0008050	Abnormality of the palpebral fissures	10526	IPO8	OMIM:619472
HP:0008050	Abnormality of the palpebral fissures	3636	INPPL1	OMIM:258480
HP:0008050	Abnormality of the palpebral fissures	10978	CLP1	ORPHA:411493
HP:0008050	Abnormality of the palpebral fissures	10978	CLP1	OMIM:615803
HP:0008050	Abnormality of the palpebral fissures	5296	PIK3R2	OMIM:603387
HP:0008050	Abnormality of the palpebral fissures	818	CAMK2G	OMIM:618522
HP:0008050	Abnormality of the palpebral fissures	24140	FTSJ1	OMIM:309549
HP:0008050	Abnormality of the palpebral fissures	7403	KDM6A	OMIM:300867
HP:0008050	Abnormality of the palpebral fissures	7403	KDM6A	OMIM:147920
HP:0008050	Abnormality of the palpebral fissures	1523	CUX1	OMIM:618330
HP:0008050	Abnormality of the palpebral fissures	170302	ARX	OMIM:300419
HP:0008050	Abnormality of the palpebral fissures	649	BMP1	OMIM:614856
HP:0008050	Abnormality of the palpebral fissures	27445	PCLO	OMIM:608027
HP:0008050	Abnormality of the palpebral fissures	9935	MAFB	OMIM:617041
HP:0008050	Abnormality of the palpebral fissures	57167	SALL4	OMIM:607323
HP:0008050	Abnormality of the palpebral fissures	2972	BRF1	ORPHA:444072
HP:0008050	Abnormality of the palpebral fissures	668	FOXL2	ORPHA:572333
HP:0008050	Abnormality of the palpebral fissures	4692	NDN	ORPHA:177904
HP:0008050	Abnormality of the palpebral fissures	4692	NDN	ORPHA:177901
HP:0008050	Abnormality of the palpebral fissures	4692	NDN	ORPHA:98754
HP:0008050	Abnormality of the palpebral fissures	4948	OCA2	ORPHA:177904
HP:0008050	Abnormality of the palpebral fissures	4948	OCA2	ORPHA:177901
HP:0008050	Abnormality of the palpebral fissures	4948	OCA2	ORPHA:98754
HP:0008050	Abnormality of the palpebral fissures	57003	CCDC47	OMIM:618268
HP:0008050	Abnormality of the palpebral fissures	6045	RNF2	OMIM:619460
HP:0008050	Abnormality of the palpebral fissures	6857	SYT1	ORPHA:522077
HP:0008050	Abnormality of the palpebral fissures	10300	KATNB1	OMIM:616212
HP:0008050	Abnormality of the palpebral fissures	84520	GON7	OMIM:619603
HP:0008050	Abnormality of the palpebral fissures	387	RHOA	OMIM:618727
HP:0008050	Abnormality of the palpebral fissures	79718	TBL1XR1	OMIM:602342
HP:0008050	Abnormality of the palpebral fissures	84570	COL25A1	ORPHA:91411
HP:0008050	Abnormality of the palpebral fissures	79776	ZFHX4	ORPHA:91411
HP:0008050	Abnormality of the palpebral fissures	51621	KLF13	OMIM:612001
HP:0008050	Abnormality of the palpebral fissures	10735	STAG2	ORPHA:521258
HP:0008050	Abnormality of the palpebral fissures	51574	LARP7	OMIM:615071
HP:0008050	Abnormality of the palpebral fissures	51574	LARP7	ORPHA:319671
HP:0008050	Abnormality of the palpebral fissures	220	ALDH1A3	OMIM:615113
HP:0008050	Abnormality of the palpebral fissures	3703	STT3A	OMIM:619714
HP:0008050	Abnormality of the palpebral fissures	55780	ERMARD	ORPHA:75857
HP:0008050	Abnormality of the palpebral fissures	57231	SNX14	ORPHA:397709
HP:0008050	Abnormality of the palpebral fissures	57231	SNX14	OMIM:616354
HP:0008050	Abnormality of the palpebral fissures	3899	AFF3	OMIM:619297
HP:0008050	Abnormality of the palpebral fissures	54496	PRMT7	OMIM:617157
HP:0008050	Abnormality of the palpebral fissures	81788	NUAK2	OMIM:619452
HP:0008050	Abnormality of the palpebral fissures	3977	LIFR	OMIM:601559
HP:0008050	Abnormality of the palpebral fissures	84314	TMEM107	OMIM:617563
HP:0008050	Abnormality of the palpebral fissures	3188	HNRNPH2	OMIM:300986
HP:0008050	Abnormality of the palpebral fissures	8241	RBM10	OMIM:311900
HP:0008050	Abnormality of the palpebral fissures	8241	RBM10	ORPHA:2886
HP:0008050	Abnormality of the palpebral fissures	23137	SMC5	OMIM:620185
HP:0008050	Abnormality of the palpebral fissures	8567	MADD	OMIM:619004
HP:0008050	Abnormality of the palpebral fissures	8567	MADD	OMIM:619005
HP:0008050	Abnormality of the palpebral fissures	10472	ZBTB18	OMIM:612337
HP:0008050	Abnormality of the palpebral fissures	8218	CLTCL1	ORPHA:453510
HP:0008050	Abnormality of the palpebral fissures	23219	FBXO28	OMIM:619777
HP:0008050	Abnormality of the palpebral fissures	55553	SOX6	OMIM:618971
HP:0008050	Abnormality of the palpebral fissures	6664	SOX11	OMIM:615866
HP:0008050	Abnormality of the palpebral fissures	3516	RBPJ	OMIM:614814
HP:0008050	Abnormality of the palpebral fissures	3762	KCNJ5	ORPHA:37553
HP:0008050	Abnormality of the palpebral fissures	55621	TRMT1	OMIM:618302
HP:0008050	Abnormality of the palpebral fissures	388662	SLC6A17	ORPHA:457212
HP:0008050	Abnormality of the palpebral fissures	388662	SLC6A17	OMIM:616269
HP:0008050	Abnormality of the palpebral fissures	10847	SRCAP	OMIM:619595
HP:0008050	Abnormality of the palpebral fissures	5238	PGM3	ORPHA:443811
HP:0008050	Abnormality of the palpebral fissures	6134	RPL10	ORPHA:459070
HP:0008050	Abnormality of the palpebral fissures	55165	CEP55	OMIM:236500
HP:0008050	Abnormality of the palpebral fissures	118924	FRA10AC1	OMIM:620113
HP:0008050	Abnormality of the palpebral fissures	26153	KIF26A	OMIM:620156
HP:0008050	Abnormality of the palpebral fissures	2556	GABRA3	OMIM:301091
HP:0008050	Abnormality of the palpebral fissures	9969	MED13	OMIM:618009
HP:0008050	Abnormality of the palpebral fissures	1656	DDX6	OMIM:618653
HP:0008050	Abnormality of the palpebral fissures	55714	TENM3	OMIM:615145
HP:0008050	Abnormality of the palpebral fissures	26173	INTS1	OMIM:618571
HP:0008050	Abnormality of the palpebral fissures	80776	B9D2	OMIM:614175
HP:0008050	Abnormality of the palpebral fissures	5144	PDE4D	ORPHA:439822
HP:0008050	Abnormality of the palpebral fissures	8550	MAPKAPK5	OMIM:619869
HP:0008050	Abnormality of the palpebral fissures	57572	DOCK6	OMIM:614219
HP:0008050	Abnormality of the palpebral fissures	4010	LMX1B	ORPHA:495818
HP:0008050	Abnormality of the palpebral fissures	6812	STXBP1	ORPHA:495818
HP:0008050	Abnormality of the palpebral fissures	58508	KMT2C	ORPHA:261652
HP:0008050	Abnormality of the palpebral fissures	5879	RAC1	ORPHA:500159
HP:0007703	Abnormality of retinal pigmentation	4558	MT-TF	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4572	MT-TQ	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4512	MT-CO1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4513	MT-CO2	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4514	MT-CO3	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4578	MT-TW	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4578	MT-TW	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4540	MT-ND5	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4540	MT-ND5	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4541	MT-ND6	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4541	MT-ND6	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4535	MT-ND1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4535	MT-ND1	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4538	MT-ND4	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4538	MT-ND4	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4574	MT-TS1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4574	MT-TS1	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	4575	MT-TS2	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4564	MT-TH	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	54892	NCAPG2	OMIM:618460
HP:0007703	Abnormality of retinal pigmentation	4570	MT-TN	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	6834	SURF1	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	6834	SURF1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	246243	RNASEH1	ORPHA:329336
HP:0007703	Abnormality of retinal pigmentation	84334	COA8	ORPHA:436271
HP:0007703	Abnormality of retinal pigmentation	23600	AMACR	OMIM:614307
HP:0007703	Abnormality of retinal pigmentation	23600	AMACR	ORPHA:79095
HP:0007703	Abnormality of retinal pigmentation	2072	ERCC4	ORPHA:90321
HP:0007703	Abnormality of retinal pigmentation	4536	MT-ND2	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4537	MT-ND3	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4577	MT-TV	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4566	MT-TK	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	51103	NDUFAF1	OMIM:618234
HP:0007703	Abnormality of retinal pigmentation	55768	NGLY1	ORPHA:404454
HP:0007703	Abnormality of retinal pigmentation	6314	ATXN7	OMIM:164500
HP:0007703	Abnormality of retinal pigmentation	29925	GMPPB	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	79147	FKRP	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	29954	POMT2	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	29954	POMT2	OMIM:613156
HP:0007703	Abnormality of retinal pigmentation	9215	LARGE1	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	9215	LARGE1	OMIM:613154
HP:0007703	Abnormality of retinal pigmentation	10585	POMT1	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	1351	COX8A	OMIM:619059
HP:0007703	Abnormality of retinal pigmentation	55154	MSTO1	OMIM:617675
HP:0007703	Abnormality of retinal pigmentation	55154	MSTO1	ORPHA:502423
HP:0007703	Abnormality of retinal pigmentation	80201	HKDC1	OMIM:619614
HP:0007703	Abnormality of retinal pigmentation	1201	CLN3	ORPHA:228346
HP:0007703	Abnormality of retinal pigmentation	7840	ALMS1	OMIM:203800
HP:0007703	Abnormality of retinal pigmentation	80324	PUS1	OMIM:600462
HP:0007703	Abnormality of retinal pigmentation	7466	WFS1	OMIM:222300
HP:0007703	Abnormality of retinal pigmentation	857	CAV1	OMIM:606721
HP:0007703	Abnormality of retinal pigmentation	51102	MECR	OMIM:617282
HP:0007703	Abnormality of retinal pigmentation	4591	TRIM37	OMIM:253250
HP:0007703	Abnormality of retinal pigmentation	2071	ERCC3	OMIM:610651
HP:0007703	Abnormality of retinal pigmentation	8195	MKKS	OMIM:605231
HP:0007703	Abnormality of retinal pigmentation	8195	MKKS	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	92482	BBIP1	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	11020	IFT27	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	51057	WDPCP	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	84984	CEP19	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	22954	TRIM32	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	79738	BBS10	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	585	BBS4	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	55212	BBS7	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	166379	BBS12	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	129880	BBS5	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	80173	IFT74	ORPHA:110
HP:0007703	Abnormality of retinal pigmentation	100996717	NOTCH2NLC	OMIM:619473
HP:0007703	Abnormality of retinal pigmentation	81689	ISCA1	OMIM:617613
HP:0007703	Abnormality of retinal pigmentation	3032	HADHB	ORPHA:746
HP:0007703	Abnormality of retinal pigmentation	80025	PANK2	OMIM:234200
HP:0007703	Abnormality of retinal pigmentation	80025	PANK2	ORPHA:216866
HP:0007703	Abnormality of retinal pigmentation	200894	ARL13B	OMIM:612291
HP:0007703	Abnormality of retinal pigmentation	182	JAG1	OMIM:118450
HP:0007703	Abnormality of retinal pigmentation	7078	TIMP3	ORPHA:59181
HP:0007703	Abnormality of retinal pigmentation	256471	MFSD8	OMIM:610951
HP:0007703	Abnormality of retinal pigmentation	3033	HADH	ORPHA:71212
HP:0007703	Abnormality of retinal pigmentation	11128	POLR3A	ORPHA:3455
HP:0007703	Abnormality of retinal pigmentation	9968	MED12	OMIM:301068
HP:0007703	Abnormality of retinal pigmentation	51	ACOX1	OMIM:264470
HP:0007703	Abnormality of retinal pigmentation	6389	SDHA	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	6389	SDHA	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	6389	SDHA	OMIM:252011
HP:0007703	Abnormality of retinal pigmentation	80704	SLC19A3	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	91942	NDUFAF2	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4723	NDUFV1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	55572	FOXRED1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4729	NDUFV2	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	55967	NDUFA12	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	51204	TACO1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4720	NDUFS2	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4724	NDUFS4	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4728	NDUFS8	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	137682	NDUFAF6	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4722	NDUFS3	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	79133	NDUFAF5	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	5160	PDHA1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	100131801	PET100	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	1355	COX15	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	1892	ECHS1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	123263	MTFMT	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	51079	NDUFA13	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	374291	NDUFS7	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4705	NDUFA10	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	51601	LIPT1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4719	NDUFS1	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4695	NDUFA2	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4697	NDUFA4	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	4704	NDUFA9	ORPHA:255241
HP:0007703	Abnormality of retinal pigmentation	2937	GSS	OMIM:266130
HP:0007703	Abnormality of retinal pigmentation	326	AIRE	OMIM:240300
HP:0007703	Abnormality of retinal pigmentation	6390	SDHB	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	6392	SDHD	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	644096	SDHAF1	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	25974	MMACHC	ORPHA:79282
HP:0007703	Abnormality of retinal pigmentation	25974	MMACHC	OMIM:277400
HP:0007703	Abnormality of retinal pigmentation	23503	ZFYVE26	ORPHA:100996
HP:0007703	Abnormality of retinal pigmentation	5052	PRDX1	OMIM:277400
HP:0007703	Abnormality of retinal pigmentation	875	CBS	ORPHA:394
HP:0007703	Abnormality of retinal pigmentation	92840	REEP6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6094	ROM1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6017	RLBP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7401	CLRN1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24	ABCA4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24	ABCA4	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	130557	ZNF513	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	582	BBS1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	92211	CDHR1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	92211	CDHR1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23568	ARL2BP	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	54806	AHI1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6101	RP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3419	IDH3A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	4751	NEK2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	346007	EYS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8100	IFT88	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23020	SNRNP200	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	762	CA4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	138050	HGSNAT	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	196	AHR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3614	IMPDH1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3614	IMPDH1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	123016	TTC8	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6103	RPGR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6103	RPGR	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5148	PDE6G	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	26160	IFT172	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	26160	IFT172	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	26121	PRPF31	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	583	BBS2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	4117	MAK	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	25794	FSCN2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	375298	CERKL	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3420	IDH3B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	57670	KIAA1549	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7275	TUB	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24148	PRPF6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	10461	MERTK	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	57709	SLC7A14	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	768206	PRCD	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7399	USH2A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23370	ARHGEF18	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5949	RBP3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6010	RHO	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6010	RHO	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6100	RP9	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	10002	NR2E3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	84140	FAM161A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	55624	POMGNT1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	79797	ZNF408	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	403	ARL3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5145	PDE6A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	10210	TOPORS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8842	PROM1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8842	PROM1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	9128	PRPF4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	145226	RDH12	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	145226	RDH12	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	50939	IMPG2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8481	OFD1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	49855	SCAPER	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	2979	GUCA1B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1259	CNGA1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1258	CNGB1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	60509	AGBL5	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5961	PRPH2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5961	PRPH2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	388939	PCARE	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7439	BEST1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7439	BEST1	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	9785	DHX38	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7287	TULP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7287	TULP1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5995	RGR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9129	PRPF3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55975	KLHL7	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3617	IMPG1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	94137	RP1L1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5158	PDE6B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5158	PDE6B	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6102	RP2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55857	KIZ	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	64218	SEMA4A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	64218	SEMA4A	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	4901	NRL	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	157657	CFAP418	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	157657	CFAP418	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	10594	PRPF8	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	84100	ARL6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6295	SAG	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6295	SAG	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	79947	DHDDS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	167691	LCA5	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	167691	LCA5	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	6873	TAF2	ORPHA:397951
HP:0007703	Abnormality of retinal pigmentation	63916	ELMO2	ORPHA:3019
HP:0007703	Abnormality of retinal pigmentation	26504	CNNM4	ORPHA:1873
HP:0007703	Abnormality of retinal pigmentation	22926	ATF6	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	64802	NMNAT1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	64802	NMNAT1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	84839	RAX2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	57096	RPGRIP1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	57096	RPGRIP1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	1261	CNGA3	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	5956	OPN1LW	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	5956	OPN1LW	ORPHA:16
HP:0007703	Abnormality of retinal pigmentation	755	CFAP410	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	778	CACNA1F	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	778	CACNA1F	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	8754	ADAM9	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	3000	GUCY2D	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	3000	GUCY2D	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	22999	RIMS1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	128338	DRAM2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2652	OPN1MW	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2652	OPN1MW	ORPHA:16
HP:0007703	Abnormality of retinal pigmentation	9094	UNC119	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	93589	CACNA2D4	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	93589	CACNA2D4	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2978	GUCA1A	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2978	GUCA1A	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	282809	POC1B	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	83394	PITPNM3	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23093	TTLL5	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	83723	TLCD3B	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23746	AIPL1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23746	AIPL1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	9364	RAB28	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	22880	MORC2	ORPHA:466768
HP:0007703	Abnormality of retinal pigmentation	5146	PDE6C	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	2780	GNAT2	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	54714	CNGB3	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	224	ALDH3A2	ORPHA:816
HP:0007703	Abnormality of retinal pigmentation	1908	EDN3	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	4286	MITF	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	1910	EDNRB	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	6663	SOX10	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	5080	PAX6	ORPHA:35737
HP:0007703	Abnormality of retinal pigmentation	65082	VPS33A	ORPHA:505248
HP:0007703	Abnormality of retinal pigmentation	26022	TMEM98	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	6657	SOX2	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	220	ALDH1A3	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	646960	PRSS56	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	83552	MFRP	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	30062	RAX	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	5015	OTX2	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	4990	SIX6	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	6023	RMRP	ORPHA:175
HP:0007703	Abnormality of retinal pigmentation	2068	ERCC2	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2067	ERCC1	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2074	ERCC6	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2073	ERCC5	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	ORPHA:217085
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	ORPHA:217093
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	OMIM:309900
HP:0007703	Abnormality of retinal pigmentation	54539	NDUFB11	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	1349	COX7B	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	3052	HCCS	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	1130	LYST	ORPHA:167
HP:0007703	Abnormality of retinal pigmentation	4547	MTTP	ORPHA:14
HP:0007703	Abnormality of retinal pigmentation	7274	TTPA	ORPHA:96
HP:0007703	Abnormality of retinal pigmentation	54476	RNF216	ORPHA:1173
HP:0007703	Abnormality of retinal pigmentation	10908	PNPLA6	ORPHA:1173
HP:0007703	Abnormality of retinal pigmentation	4000	LMNA	ORPHA:79474
HP:0007703	Abnormality of retinal pigmentation	2202	EFEMP1	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	3075	CFH	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	3426	CFI	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	55112	DYNC2I1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	153241	CEP120	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57560	IFT80	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	51626	DYNC2LI1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	79659	DYNC2H1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57728	WDR19	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57728	WDR19	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	89891	DYNC2I2	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	79809	TTC21B	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	1499	CTNNB1	ORPHA:873
HP:0007703	Abnormality of retinal pigmentation	324	APC	ORPHA:873
HP:0007703	Abnormality of retinal pigmentation	3769	KCNJ13	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	343035	RD3	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	80184	CEP290	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	80184	CEP290	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	10383	TUBB4B	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	85015	USP45	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5130	PCYT1A	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5130	PCYT1A	ORPHA:85167
HP:0007703	Abnormality of retinal pigmentation	9657	IQCB1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	9657	IQCB1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	392255	GDF6	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	6197	RPS6KA3	ORPHA:192
HP:0007703	Abnormality of retinal pigmentation	157680	VPS13B	ORPHA:193
HP:0007703	Abnormality of retinal pigmentation	7486	WRN	ORPHA:902
HP:0007703	Abnormality of retinal pigmentation	63895	PIEZO2	OMIM:108145
HP:0007703	Abnormality of retinal pigmentation	5184	PEPD	ORPHA:742
HP:0007703	Abnormality of retinal pigmentation	5728	PTEN	ORPHA:744
HP:0007703	Abnormality of retinal pigmentation	207	AKT1	ORPHA:744
HP:0007703	Abnormality of retinal pigmentation	285362	SUMF1	ORPHA:585
HP:0007703	Abnormality of retinal pigmentation	1121	CHM	ORPHA:180
HP:0007703	Abnormality of retinal pigmentation	4982	TNFRSF11B	ORPHA:2801
HP:0007703	Abnormality of retinal pigmentation	8792	TNFRSF11A	ORPHA:2801
HP:0007703	Abnormality of retinal pigmentation	3832	KIF11	ORPHA:2526
HP:0007703	Abnormality of retinal pigmentation	1356	CP	ORPHA:48818
HP:0007703	Abnormality of retinal pigmentation	4308	TRPM1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	57010	CABP4	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	345193	LRIT3	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2916	GRM6	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	440435	GPR179	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6011	GRK1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	9187	SLC24A1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2784	GNB3	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2779	GNAT1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	60506	NYX	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	57192	MCOLN1	ORPHA:578
HP:0007703	Abnormality of retinal pigmentation	5264	PHYH	ORPHA:773
HP:0007703	Abnormality of retinal pigmentation	5191	PEX7	ORPHA:773
HP:0007703	Abnormality of retinal pigmentation	55670	PEX26	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5824	PEX19	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5828	PEX2	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	8504	PEX3	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	9409	PEX16	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5190	PEX6	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	8799	PEX11B	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5830	PEX5	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5189	PEX1	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5193	PEX12	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5194	PEX13	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5195	PEX14	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5192	PEX10	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	149461	CLDN19	ORPHA:2196
HP:0007703	Abnormality of retinal pigmentation	85378	TUBGCP6	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	85378	TUBGCP6	OMIM:251270
HP:0007703	Abnormality of retinal pigmentation	27229	TUBGCP4	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	10733	PLK4	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	2317	FLNB	OMIM:272460
HP:0007703	Abnormality of retinal pigmentation	100151683	RNU4ATAC	ORPHA:1824
HP:0007703	Abnormality of retinal pigmentation	22930	RAB3GAP1	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	25782	RAB3GAP2	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	22931	RAB18	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	128637	TBC1D20	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	201163	FLCN	ORPHA:122
HP:0007703	Abnormality of retinal pigmentation	3030	HADHA	ORPHA:5
HP:0007703	Abnormality of retinal pigmentation	4509	MT-ATP8	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	4567	MT-TL1	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	50484	RRM2B	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	9990	SLC12A6	ORPHA:1496
HP:0007703	Abnormality of retinal pigmentation	57724	EPG5	ORPHA:1493
HP:0007703	Abnormality of retinal pigmentation	26146	TRAF3IP1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	10806	SDCCAG8	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	27130	INVS	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	4867	NPHP1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	261734	NPHP4	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	27031	NPHP3	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	22897	CEP164	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	4157	MC1R	ORPHA:79432
HP:0007703	Abnormality of retinal pigmentation	4948	OCA2	ORPHA:79432
HP:0007703	Abnormality of retinal pigmentation	7299	TYR	ORPHA:79434
HP:0007703	Abnormality of retinal pigmentation	51151	SLC45A2	ORPHA:79435
HP:0007703	Abnormality of retinal pigmentation	1001	CDH3	ORPHA:1897
HP:0007703	Abnormality of retinal pigmentation	54903	MKS1	OMIM:615990
HP:0007703	Abnormality of retinal pigmentation	22901	ARSG	OMIM:618144
HP:0007703	Abnormality of retinal pigmentation	54585	LZTFL1	OMIM:615994
HP:0007703	Abnormality of retinal pigmentation	3098	HK1	OMIM:617460
HP:0007703	Abnormality of retinal pigmentation	28982	FLVCR1	ORPHA:88628
HP:0007703	Abnormality of retinal pigmentation	28982	FLVCR1	OMIM:609033
HP:0007703	Abnormality of retinal pigmentation	112752	IFT43	OMIM:617871
HP:0007703	Abnormality of retinal pigmentation	51109	RDH11	OMIM:616108
HP:0007703	Abnormality of retinal pigmentation	79140	CCDC28B	OMIM:209900
HP:0007703	Abnormality of retinal pigmentation	23155	CLCC1	OMIM:609913
HP:0007703	Abnormality of retinal pigmentation	27241	BBS9	OMIM:615986
HP:0007703	Abnormality of retinal pigmentation	85465	SELENOI	ORPHA:506353
HP:0007703	Abnormality of retinal pigmentation	1497	CTNS	OMIM:219800
HP:0007703	Abnormality of retinal pigmentation	1497	CTNS	OMIM:219900
HP:0007703	Abnormality of retinal pigmentation	5149	PDE6H	ORPHA:49382
HP:0007703	Abnormality of retinal pigmentation	4683	NBN	OMIM:251260
HP:0007703	Abnormality of retinal pigmentation	1182	CLCN3	OMIM:619517
HP:0007703	Abnormality of retinal pigmentation	285440	CYP4V2	ORPHA:41751
HP:0007703	Abnormality of retinal pigmentation	6785	ELOVL4	ORPHA:827
HP:0007703	Abnormality of retinal pigmentation	4329	ALDH6A1	OMIM:614105
HP:0007703	Abnormality of retinal pigmentation	23761	PISD	OMIM:618889
HP:0007703	Abnormality of retinal pigmentation	6533	SLC6A6	OMIM:145350
HP:0007703	Abnormality of retinal pigmentation	4508	MT-ATP6	ORPHA:644
HP:0007703	Abnormality of retinal pigmentation	4508	MT-ATP6	OMIM:551500
HP:0007703	Abnormality of retinal pigmentation	5959	RDH5	ORPHA:52427
HP:0007703	Abnormality of retinal pigmentation	5428	POLG	OMIM:607459
HP:0007703	Abnormality of retinal pigmentation	56652	TWNK	OMIM:607459
HP:0007703	Abnormality of retinal pigmentation	27072	VPS41	OMIM:619389
HP:0007703	Abnormality of retinal pigmentation	51098	IFT52	OMIM:617102
HP:0007703	Abnormality of retinal pigmentation	8449	DHX16	OMIM:618733
HP:0007703	Abnormality of retinal pigmentation	1161	ERCC8	OMIM:216400
HP:0008052	Retinal fold	23554	TSPAN12	OMIM:613310
HP:0008052	Retinal fold	23554	TSPAN12	ORPHA:891
HP:0008052	Retinal fold	4041	LRP5	OMIM:133780
HP:0008052	Retinal fold	4041	LRP5	ORPHA:891
HP:0008052	Retinal fold	4041	LRP5	OMIM:601813
HP:0008052	Retinal fold	79797	ZNF408	OMIM:616468
HP:0008052	Retinal fold	79797	ZNF408	ORPHA:891
HP:0008052	Retinal fold	85378	TUBGCP6	OMIM:251270
HP:0008052	Retinal fold	220202	ATOH7	OMIM:221900
HP:0008052	Retinal fold	220202	ATOH7	ORPHA:91495
HP:0008052	Retinal fold	1499	CTNNB1	OMIM:617572
HP:0008052	Retinal fold	4693	NDP	OMIM:310600
HP:0008052	Retinal fold	4693	NDP	ORPHA:91495
HP:0008052	Retinal fold	4693	NDP	OMIM:305390
HP:0008052	Retinal fold	8322	FZD4	ORPHA:91495
HP:0008052	Retinal fold	646960	PRSS56	OMIM:613517
HP:0008052	Retinal fold	3832	KIF11	OMIM:152950
HP:0008052	Retinal fold	63895	PIEZO2	OMIM:108145
HP:0008053	Aplasia/Hypoplasia of the iris	64840	PORCN	OMIM:305600
HP:0008053	Aplasia/Hypoplasia of the iris	197257	LDHD	OMIM:245450
HP:0008053	Aplasia/Hypoplasia of the iris	54765	TRIM44	ORPHA:250923
HP:0008053	Aplasia/Hypoplasia of the iris	54765	TRIM44	OMIM:617142
HP:0008053	Aplasia/Hypoplasia of the iris	7428	VHL	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	1743	DLST	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	4191	MDH2	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	5979	RET	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	6389	SDHA	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	23095	KIF1B	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	2271	FH	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	8402	SLC25A11	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	54949	SDHAF2	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	55654	TMEM127	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	4763	NF1	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	6391	SDHC	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	6392	SDHD	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	6390	SDHB	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	4149	MAX	ORPHA:29072
HP:0008053	Aplasia/Hypoplasia of the iris	3708	ITPR1	ORPHA:1065
HP:0008053	Aplasia/Hypoplasia of the iris	3708	ITPR1	OMIM:206700
HP:0008053	Aplasia/Hypoplasia of the iris	26610	ELP4	OMIM:617141
HP:0008053	Aplasia/Hypoplasia of the iris	2301	FOXE3	OMIM:610256
HP:0008053	Aplasia/Hypoplasia of the iris	1750	DLX6	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	7979	SEM1	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	8945	BTRC	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	8626	TP63	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	58513	EPS15L1	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	6468	FBXW4	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	7480	WNT10B	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	1749	DLX5	ORPHA:2440
HP:0008053	Aplasia/Hypoplasia of the iris	5978	REST	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	129563	DIS3L2	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	9319	TRIP13	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	10155	TRIM28	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	11281	POU6F2	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	2719	GPC3	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	283120	H19	ORPHA:654
HP:0008053	Aplasia/Hypoplasia of the iris	63901	FAM111A	OMIM:602361
HP:0008053	Aplasia/Hypoplasia of the iris	92949	ADAMTSL1	ORPHA:521445
HP:0008053	Aplasia/Hypoplasia of the iris	5295	PIK3R1	OMIM:269880
HP:0008053	Aplasia/Hypoplasia of the iris	53834	FGFRL1	OMIM:194190
HP:0008053	Aplasia/Hypoplasia of the iris	1487	CTBP1	OMIM:194190
HP:0008053	Aplasia/Hypoplasia of the iris	3954	LETM1	OMIM:194190
HP:0008053	Aplasia/Hypoplasia of the iris	7468	NSD2	OMIM:194190
HP:0008053	Aplasia/Hypoplasia of the iris	10815	CPLX1	OMIM:194190
HP:0008053	Aplasia/Hypoplasia of the iris	3480	IGF1R	OMIM:270450
HP:0008053	Aplasia/Hypoplasia of the iris	3913	LAMB2	OMIM:609049
HP:0008053	Aplasia/Hypoplasia of the iris	9653	HS2ST1	OMIM:619194
HP:0008053	Aplasia/Hypoplasia of the iris	2074	ERCC6	OMIM:133540
HP:0008053	Aplasia/Hypoplasia of the iris	2200	FBN1	OMIM:154700
HP:0008053	Aplasia/Hypoplasia of the iris	55733	HHAT	ORPHA:1422
HP:0008053	Aplasia/Hypoplasia of the iris	55733	HHAT	OMIM:600092
HP:0008053	Aplasia/Hypoplasia of the iris	6786	STIM1	OMIM:612783
HP:0008053	Aplasia/Hypoplasia of the iris	27151	CPAMD8	OMIM:617319
HP:0008053	Aplasia/Hypoplasia of the iris	406960	MIR184	OMIM:614303
HP:0008053	Aplasia/Hypoplasia of the iris	1282	COL4A1	OMIM:175780
HP:0008053	Aplasia/Hypoplasia of the iris	84942	WDR73	OMIM:251300
HP:0008053	Aplasia/Hypoplasia of the iris	4036	LRP2	OMIM:222448
HP:0008053	Aplasia/Hypoplasia of the iris	30813	VSX1	OMIM:614195
HP:0008053	Aplasia/Hypoplasia of the iris	2260	FGFR1	OMIM:613001
HP:0008053	Aplasia/Hypoplasia of the iris	6663	SOX10	OMIM:611584
HP:0008053	Aplasia/Hypoplasia of the iris	57167	SALL4	ORPHA:233
HP:0008053	Aplasia/Hypoplasia of the iris	9935	MAFB	ORPHA:233
HP:0008053	Aplasia/Hypoplasia of the iris	1123	CHN1	ORPHA:233
HP:0008053	Aplasia/Hypoplasia of the iris	4286	MITF	OMIM:193510
HP:0008053	Aplasia/Hypoplasia of the iris	5077	PAX3	OMIM:193500
HP:0008053	Aplasia/Hypoplasia of the iris	5080	PAX6	ORPHA:893
HP:0008053	Aplasia/Hypoplasia of the iris	5080	PAX6	ORPHA:137902
HP:0008053	Aplasia/Hypoplasia of the iris	627	BDNF	ORPHA:893
HP:0008053	Aplasia/Hypoplasia of the iris	7490	WT1	ORPHA:893
HP:0008053	Aplasia/Hypoplasia of the iris	5308	PITX2	ORPHA:782
HP:0008053	Aplasia/Hypoplasia of the iris	2296	FOXC1	ORPHA:782
HP:0008053	Aplasia/Hypoplasia of the iris	84314	TMEM107	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	26123	TCTN3	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	79867	TCTN2	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	80776	B9D2	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	79600	TCTN1	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	57096	RPGRIP1	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	79848	CSPP1	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	80184	CEP290	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	51259	TMEM216	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	57545	CC2D2A	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	79583	TMEM231	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	91147	TMEM67	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	79770	TXNDC15	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	27077	B9D1	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	23322	RPGRIP1L	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	54903	MKS1	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	65062	TMEM237	ORPHA:564
HP:0008053	Aplasia/Hypoplasia of the iris	6804	STX1A	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	7461	CLIP2	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	84277	DNAJC30	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	8468	FKBP6	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	5982	RFC2	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	2969	GTF2I	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	3984	LIMK1	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	9569	GTF2IRD1	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	155382	VPS37D	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	155368	METTL27	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	114049	BUD23	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	7458	EIF4H	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	84163	GTF2IRD2	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	9275	BCL7B	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	26608	TBL2	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	653361	NCF1	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	135886	TMEM270	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	51085	MLXIPL	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	9031	BAZ1B	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	2006	ELN	ORPHA:904
HP:0008053	Aplasia/Hypoplasia of the iris	672	BRCA1	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	10459	MAD2L2	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	7516	XRCC2	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	29089	UBE2T	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	675	BRCA2	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	55120	FANCL	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2177	FANCD2	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2175	FANCA	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2187	FANCB	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2176	FANCC	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2178	FANCE	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2188	FANCF	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2189	FANCG	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	5888	RAD51	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	5889	RAD51C	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	55159	RFWD3	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	83990	BRIP1	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	57697	FANCM	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	79728	PALB2	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	84464	SLX4	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	2072	ERCC4	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	55215	FANCI	ORPHA:84
HP:0008053	Aplasia/Hypoplasia of the iris	4693	NDP	ORPHA:190
HP:0008054	Abnormal morphology of the conjunctival vasculature	2517	FUCA1	OMIM:230000
HP:0008054	Abnormal morphology of the conjunctival vasculature	55129	ANO10	ORPHA:284289
HP:0008054	Abnormal morphology of the conjunctival vasculature	55129	ANO10	OMIM:613728
HP:0008054	Abnormal morphology of the conjunctival vasculature	4668	NAGA	OMIM:609242
HP:0008054	Abnormal morphology of the conjunctival vasculature	4126	MANBA	OMIM:248510
HP:0008054	Abnormal morphology of the conjunctival vasculature	94	ACVRL1	OMIM:600376
HP:0008054	Abnormal morphology of the conjunctival vasculature	94	ACVRL1	ORPHA:774
HP:0008054	Abnormal morphology of the conjunctival vasculature	2658	GDF2	ORPHA:774
HP:0008054	Abnormal morphology of the conjunctival vasculature	4089	SMAD4	ORPHA:774
HP:0008054	Abnormal morphology of the conjunctival vasculature	2022	ENG	ORPHA:774
HP:0008054	Abnormal morphology of the conjunctival vasculature	2022	ENG	OMIM:187300
HP:0008054	Abnormal morphology of the conjunctival vasculature	3978	LIG1	OMIM:619774
HP:0008054	Abnormal morphology of the conjunctival vasculature	23328	SASH1	OMIM:618373
HP:0008054	Abnormal morphology of the conjunctival vasculature	4683	NBN	OMIM:251260
HP:0008054	Abnormal morphology of the conjunctival vasculature	5648	MASP1	OMIM:257920
HP:0008054	Abnormal morphology of the conjunctival vasculature	472	ATM	OMIM:208900
HP:0008054	Abnormal morphology of the conjunctival vasculature	23064	SETX	OMIM:606002
HP:0008054	Abnormal morphology of the conjunctival vasculature	5190	PEX6	ORPHA:95433
HP:0008054	Abnormal morphology of the conjunctival vasculature	165918	RNF168	ORPHA:420741
HP:0008054	Abnormal morphology of the conjunctival vasculature	5111	PCNA	OMIM:615919
HP:0008054	Abnormal morphology of the conjunctival vasculature	5476	CTSA	OMIM:256540
HP:0008054	Abnormal morphology of the conjunctival vasculature	2717	GLA	ORPHA:324
HP:0008054	Abnormal morphology of the conjunctival vasculature	2068	ERCC2	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	7507	XPA	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	2071	ERCC3	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	7508	XPC	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	1643	DDB2	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	2072	ERCC4	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	2073	ERCC5	ORPHA:910
HP:0008054	Abnormal morphology of the conjunctival vasculature	2776	GNAQ	ORPHA:3205
HP:0008055	Aplasia/Hypoplasia affecting the uvea	64840	PORCN	OMIM:305600
HP:0008055	Aplasia/Hypoplasia affecting the uvea	197257	LDHD	OMIM:245450
HP:0008055	Aplasia/Hypoplasia affecting the uvea	54765	TRIM44	ORPHA:250923
HP:0008055	Aplasia/Hypoplasia affecting the uvea	54765	TRIM44	OMIM:617142
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7428	VHL	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1743	DLST	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4191	MDH2	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5979	RET	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6389	SDHA	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	23095	KIF1B	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2271	FH	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	8402	SLC25A11	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	54949	SDHAF2	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55654	TMEM127	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4763	NF1	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6391	SDHC	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6392	SDHD	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6390	SDHB	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4149	MAX	ORPHA:29072
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3708	ITPR1	ORPHA:1065
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3708	ITPR1	OMIM:206700
HP:0008055	Aplasia/Hypoplasia affecting the uvea	26610	ELP4	OMIM:617141
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2301	FOXE3	OMIM:610256
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1750	DLX6	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7979	SEM1	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	8945	BTRC	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	8626	TP63	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	58513	EPS15L1	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6468	FBXW4	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7480	WNT10B	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1749	DLX5	ORPHA:2440
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5978	REST	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	129563	DIS3L2	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9319	TRIP13	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	10155	TRIM28	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	11281	POU6F2	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2719	GPC3	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	283120	H19	ORPHA:654
HP:0008055	Aplasia/Hypoplasia affecting the uvea	63901	FAM111A	OMIM:602361
HP:0008055	Aplasia/Hypoplasia affecting the uvea	92949	ADAMTSL1	ORPHA:521445
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5295	PIK3R1	OMIM:269880
HP:0008055	Aplasia/Hypoplasia affecting the uvea	53834	FGFRL1	OMIM:194190
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1487	CTBP1	OMIM:194190
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3954	LETM1	OMIM:194190
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7468	NSD2	OMIM:194190
HP:0008055	Aplasia/Hypoplasia affecting the uvea	10815	CPLX1	OMIM:194190
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3480	IGF1R	OMIM:270450
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3913	LAMB2	OMIM:609049
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9653	HS2ST1	OMIM:619194
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2074	ERCC6	OMIM:133540
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2200	FBN1	OMIM:154700
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55733	HHAT	ORPHA:1422
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55733	HHAT	OMIM:600092
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6786	STIM1	OMIM:612783
HP:0008055	Aplasia/Hypoplasia affecting the uvea	27151	CPAMD8	OMIM:617319
HP:0008055	Aplasia/Hypoplasia affecting the uvea	406960	MIR184	OMIM:614303
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1282	COL4A1	OMIM:175780
HP:0008055	Aplasia/Hypoplasia affecting the uvea	84942	WDR73	OMIM:251300
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4036	LRP2	OMIM:222448
HP:0008055	Aplasia/Hypoplasia affecting the uvea	30813	VSX1	OMIM:614195
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2260	FGFR1	OMIM:613001
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6663	SOX10	OMIM:611584
HP:0008055	Aplasia/Hypoplasia affecting the uvea	57167	SALL4	ORPHA:233
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9935	MAFB	ORPHA:233
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1123	CHN1	ORPHA:233
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4286	MITF	OMIM:193510
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5077	PAX3	OMIM:193500
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5080	PAX6	ORPHA:893
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5080	PAX6	ORPHA:137902
HP:0008055	Aplasia/Hypoplasia affecting the uvea	627	BDNF	ORPHA:893
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7490	WT1	ORPHA:893
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5308	PITX2	ORPHA:782
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2296	FOXC1	ORPHA:782
HP:0008055	Aplasia/Hypoplasia affecting the uvea	84314	TMEM107	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	26123	TCTN3	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79867	TCTN2	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	80776	B9D2	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79600	TCTN1	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	57096	RPGRIP1	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79848	CSPP1	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	80184	CEP290	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	51259	TMEM216	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	57545	CC2D2A	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79583	TMEM231	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	91147	TMEM67	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79770	TXNDC15	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	27077	B9D1	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	23322	RPGRIP1L	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	54903	MKS1	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	65062	TMEM237	ORPHA:564
HP:0008055	Aplasia/Hypoplasia affecting the uvea	6804	STX1A	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7461	CLIP2	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	84277	DNAJC30	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	8468	FKBP6	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5982	RFC2	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2969	GTF2I	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	3984	LIMK1	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9569	GTF2IRD1	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	155382	VPS37D	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	155368	METTL27	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	114049	BUD23	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7458	EIF4H	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	84163	GTF2IRD2	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9275	BCL7B	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	26608	TBL2	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	653361	NCF1	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	135886	TMEM270	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	51085	MLXIPL	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	9031	BAZ1B	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2006	ELN	ORPHA:904
HP:0008055	Aplasia/Hypoplasia affecting the uvea	672	BRCA1	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	10459	MAD2L2	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	7516	XRCC2	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	29089	UBE2T	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	675	BRCA2	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55120	FANCL	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2177	FANCD2	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2175	FANCA	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2187	FANCB	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2176	FANCC	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2178	FANCE	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2188	FANCF	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2189	FANCG	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5888	RAD51	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	5889	RAD51C	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55159	RFWD3	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	83990	BRIP1	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	57697	FANCM	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	79728	PALB2	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	84464	SLX4	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2072	ERCC4	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	55215	FANCI	ORPHA:84
HP:0008055	Aplasia/Hypoplasia affecting the uvea	4693	NDP	ORPHA:190
HP:0008056	Aplasia/Hypoplasia affecting the eye	197257	LDHD	OMIM:245450
HP:0008056	Aplasia/Hypoplasia affecting the eye	7428	VHL	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	1743	DLST	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	4191	MDH2	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	5979	RET	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	6389	SDHA	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	23095	KIF1B	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	2271	FH	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	8402	SLC25A11	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	54949	SDHAF2	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	55654	TMEM127	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	4763	NF1	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	6391	SDHC	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	6392	SDHD	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	6390	SDHB	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	4149	MAX	ORPHA:29072
HP:0008056	Aplasia/Hypoplasia affecting the eye	3708	ITPR1	ORPHA:1065
HP:0008056	Aplasia/Hypoplasia affecting the eye	3708	ITPR1	OMIM:206700
HP:0008056	Aplasia/Hypoplasia affecting the eye	26610	ELP4	OMIM:617141
HP:0008056	Aplasia/Hypoplasia affecting the eye	1750	DLX6	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	7979	SEM1	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	8945	BTRC	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	8626	TP63	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	58513	EPS15L1	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	6468	FBXW4	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	7480	WNT10B	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	1749	DLX5	ORPHA:2440
HP:0008056	Aplasia/Hypoplasia affecting the eye	5978	REST	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	129563	DIS3L2	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	10155	TRIM28	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	11281	POU6F2	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	2719	GPC3	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	283120	H19	ORPHA:654
HP:0008056	Aplasia/Hypoplasia affecting the eye	64840	PORCN	OMIM:305600
HP:0008056	Aplasia/Hypoplasia affecting the eye	341640	FREM2	ORPHA:2052
HP:0008056	Aplasia/Hypoplasia affecting the eye	80144	FRAS1	ORPHA:2052
HP:0008056	Aplasia/Hypoplasia affecting the eye	80144	FRAS1	OMIM:219000
HP:0008056	Aplasia/Hypoplasia affecting the eye	23426	GRIP1	ORPHA:2052
HP:0008056	Aplasia/Hypoplasia affecting the eye	23347	SMCHD1	ORPHA:2250
HP:0008056	Aplasia/Hypoplasia affecting the eye	8260	NAA10	OMIM:309800
HP:0008056	Aplasia/Hypoplasia affecting the eye	54880	BCOR	OMIM:309800
HP:0008056	Aplasia/Hypoplasia affecting the eye	54880	BCOR	OMIM:300166
HP:0008056	Aplasia/Hypoplasia affecting the eye	30062	RAX	OMIM:611038
HP:0008056	Aplasia/Hypoplasia affecting the eye	85440	DOCK7	ORPHA:411986
HP:0008056	Aplasia/Hypoplasia affecting the eye	10586	MAB21L2	OMIM:615877
HP:0008056	Aplasia/Hypoplasia affecting the eye	10992	SF3B2	OMIM:164210
HP:0008056	Aplasia/Hypoplasia affecting the eye	64220	STRA6	OMIM:601186
HP:0008056	Aplasia/Hypoplasia affecting the eye	64220	STRA6	ORPHA:2470
HP:0008056	Aplasia/Hypoplasia affecting the eye	6469	SHH	OMIM:611638
HP:0008056	Aplasia/Hypoplasia affecting the eye	6469	SHH	OMIM:147250
HP:0008056	Aplasia/Hypoplasia affecting the eye	1161	ERCC8	ORPHA:90321
HP:0008056	Aplasia/Hypoplasia affecting the eye	1161	ERCC8	ORPHA:90322
HP:0008056	Aplasia/Hypoplasia affecting the eye	2074	ERCC6	ORPHA:90321
HP:0008056	Aplasia/Hypoplasia affecting the eye	2074	ERCC6	ORPHA:90322
HP:0008056	Aplasia/Hypoplasia affecting the eye	2067	ERCC1	ORPHA:90322
HP:0008056	Aplasia/Hypoplasia affecting the eye	158326	FREM1	OMIM:248450
HP:0008056	Aplasia/Hypoplasia affecting the eye	158326	FREM1	ORPHA:2717
HP:0008056	Aplasia/Hypoplasia affecting the eye	3832	KIF11	ORPHA:2526
HP:0008056	Aplasia/Hypoplasia affecting the eye	5915	RARB	OMIM:615524
HP:0008056	Aplasia/Hypoplasia affecting the eye	5915	RARB	ORPHA:2470
HP:0008056	Aplasia/Hypoplasia affecting the eye	9723	SEMA3E	ORPHA:138
HP:0008056	Aplasia/Hypoplasia affecting the eye	84892	POMGNT2	ORPHA:899
HP:0008056	Aplasia/Hypoplasia affecting the eye	1282	COL4A1	ORPHA:899
HP:0008056	Aplasia/Hypoplasia affecting the eye	10329	RXYLT1	ORPHA:899
HP:0008056	Aplasia/Hypoplasia affecting the eye	1605	DAG1	ORPHA:899
HP:0008056	Aplasia/Hypoplasia affecting the eye	11041	B4GAT1	ORPHA:899
HP:0008056	Aplasia/Hypoplasia affecting the eye	652	BMP4	ORPHA:139471
HP:0008056	Aplasia/Hypoplasia affecting the eye	652	BMP4	OMIM:607932
HP:0008056	Aplasia/Hypoplasia affecting the eye	81788	NUAK2	OMIM:619452
HP:0008056	Aplasia/Hypoplasia affecting the eye	5950	RBP4	OMIM:616428
HP:0008056	Aplasia/Hypoplasia affecting the eye	54539	NDUFB11	ORPHA:2556
HP:0008056	Aplasia/Hypoplasia affecting the eye	1349	COX7B	ORPHA:2556
HP:0008056	Aplasia/Hypoplasia affecting the eye	3052	HCCS	ORPHA:2556
HP:0008056	Aplasia/Hypoplasia affecting the eye	7020	TFAP2A	OMIM:113620
HP:0008056	Aplasia/Hypoplasia affecting the eye	219844	HYLS1	ORPHA:2189
HP:0008056	Aplasia/Hypoplasia affecting the eye	374654	KIF7	ORPHA:2189
HP:0008056	Aplasia/Hypoplasia affecting the eye	92949	ADAMTSL1	ORPHA:521445
HP:0008056	Aplasia/Hypoplasia affecting the eye	5295	PIK3R1	OMIM:269880
HP:0008056	Aplasia/Hypoplasia affecting the eye	53834	FGFRL1	OMIM:194190
HP:0008056	Aplasia/Hypoplasia affecting the eye	1487	CTBP1	OMIM:194190
HP:0008056	Aplasia/Hypoplasia affecting the eye	3954	LETM1	OMIM:194190
HP:0008056	Aplasia/Hypoplasia affecting the eye	7468	NSD2	OMIM:194190
HP:0008056	Aplasia/Hypoplasia affecting the eye	10815	CPLX1	OMIM:194190
HP:0008056	Aplasia/Hypoplasia affecting the eye	3480	IGF1R	OMIM:270450
HP:0008056	Aplasia/Hypoplasia affecting the eye	3913	LAMB2	OMIM:609049
HP:0008056	Aplasia/Hypoplasia affecting the eye	1409	CRYAA	OMIM:604219
HP:0008056	Aplasia/Hypoplasia affecting the eye	3265	HRAS	ORPHA:2612
HP:0008056	Aplasia/Hypoplasia affecting the eye	3845	KRAS	ORPHA:2612
HP:0008056	Aplasia/Hypoplasia affecting the eye	4893	NRAS	ORPHA:2612
HP:0008056	Aplasia/Hypoplasia affecting the eye	83700	JAM3	OMIM:613730
HP:0008056	Aplasia/Hypoplasia affecting the eye	23556	PIGN	ORPHA:2059
HP:0008056	Aplasia/Hypoplasia affecting the eye	81857	MED25	OMIM:616449
HP:0008056	Aplasia/Hypoplasia affecting the eye	81857	MED25	ORPHA:464738
HP:0008056	Aplasia/Hypoplasia affecting the eye	84942	WDR73	OMIM:251300
HP:0008056	Aplasia/Hypoplasia affecting the eye	9839	ZEB2	OMIM:235730
HP:0008056	Aplasia/Hypoplasia affecting the eye	9839	ZEB2	ORPHA:261552
HP:0008056	Aplasia/Hypoplasia affecting the eye	9839	ZEB2	ORPHA:261537
HP:0008056	Aplasia/Hypoplasia affecting the eye	55209	SETD5	ORPHA:404440
HP:0008056	Aplasia/Hypoplasia affecting the eye	5932	RBBP8	OMIM:606744
HP:0008056	Aplasia/Hypoplasia affecting the eye	2073	ERCC5	OMIM:616570
HP:0008056	Aplasia/Hypoplasia affecting the eye	2073	ERCC5	OMIM:278780
HP:0008056	Aplasia/Hypoplasia affecting the eye	2073	ERCC5	ORPHA:1466
HP:0008056	Aplasia/Hypoplasia affecting the eye	27229	TUBGCP4	OMIM:616335
HP:0008056	Aplasia/Hypoplasia affecting the eye	3149	HMGB3	OMIM:300915
HP:0008056	Aplasia/Hypoplasia affecting the eye	6595	SMARCA2	ORPHA:2728
HP:0008056	Aplasia/Hypoplasia affecting the eye	25782	RAB3GAP2	OMIM:212720
HP:0008056	Aplasia/Hypoplasia affecting the eye	25782	RAB3GAP2	OMIM:614225
HP:0008056	Aplasia/Hypoplasia affecting the eye	25782	RAB3GAP2	ORPHA:2510
HP:0008056	Aplasia/Hypoplasia affecting the eye	84987	COX14	OMIM:619053
HP:0008056	Aplasia/Hypoplasia affecting the eye	23418	CRB1	ORPHA:35612
HP:0008056	Aplasia/Hypoplasia affecting the eye	7439	BEST1	ORPHA:35612
HP:0008056	Aplasia/Hypoplasia affecting the eye	7439	BEST1	OMIM:193220
HP:0008056	Aplasia/Hypoplasia affecting the eye	26022	TMEM98	ORPHA:35612
HP:0008056	Aplasia/Hypoplasia affecting the eye	26022	TMEM98	OMIM:615972
HP:0008056	Aplasia/Hypoplasia affecting the eye	646960	PRSS56	ORPHA:35612
HP:0008056	Aplasia/Hypoplasia affecting the eye	646960	PRSS56	OMIM:613517
HP:0008056	Aplasia/Hypoplasia affecting the eye	83552	MFRP	ORPHA:35612
HP:0008056	Aplasia/Hypoplasia affecting the eye	83552	MFRP	OMIM:609549
HP:0008056	Aplasia/Hypoplasia affecting the eye	83552	MFRP	OMIM:611040
HP:0008056	Aplasia/Hypoplasia affecting the eye	23116	TOGARAM1	OMIM:619185
HP:0008056	Aplasia/Hypoplasia affecting the eye	9896	FIG4	ORPHA:3472
HP:0008056	Aplasia/Hypoplasia affecting the eye	55697	VAC14	ORPHA:3472
HP:0008056	Aplasia/Hypoplasia affecting the eye	9184	BUB3	ORPHA:1052
HP:0008056	Aplasia/Hypoplasia affecting the eye	699	BUB1	ORPHA:1052
HP:0008056	Aplasia/Hypoplasia affecting the eye	9702	CEP57	ORPHA:1052
HP:0008056	Aplasia/Hypoplasia affecting the eye	9319	TRIP13	ORPHA:1052
HP:0008056	Aplasia/Hypoplasia affecting the eye	701	BUB1B	ORPHA:1052
HP:0008056	Aplasia/Hypoplasia affecting the eye	22884	WDR37	OMIM:618652
HP:0008056	Aplasia/Hypoplasia affecting the eye	55714	TENM3	OMIM:615145
HP:0008056	Aplasia/Hypoplasia affecting the eye	56992	KIF15	OMIM:619981
HP:0008056	Aplasia/Hypoplasia affecting the eye	25942	SIN3A	OMIM:613406
HP:0008056	Aplasia/Hypoplasia affecting the eye	10716	TBR1	ORPHA:1617
HP:0008056	Aplasia/Hypoplasia affecting the eye	2697	GJA1	OMIM:164200
HP:0008056	Aplasia/Hypoplasia affecting the eye	2697	GJA1	OMIM:257850
HP:0008056	Aplasia/Hypoplasia affecting the eye	63901	FAM111A	OMIM:602361
HP:0008056	Aplasia/Hypoplasia affecting the eye	63901	FAM111A	OMIM:127000
HP:0008056	Aplasia/Hypoplasia affecting the eye	26227	PHGDH	OMIM:256520
HP:0008056	Aplasia/Hypoplasia affecting the eye	11081	KERA	OMIM:217300
HP:0008056	Aplasia/Hypoplasia affecting the eye	6608	SMO	OMIM:601707
HP:0008056	Aplasia/Hypoplasia affecting the eye	6608	SMO	ORPHA:1553
HP:0008056	Aplasia/Hypoplasia affecting the eye	56006	SMG9	OMIM:616920
HP:0008056	Aplasia/Hypoplasia affecting the eye	10013	HDAC6	ORPHA:163966
HP:0008056	Aplasia/Hypoplasia affecting the eye	10013	HDAC6	OMIM:300863
HP:0008056	Aplasia/Hypoplasia affecting the eye	4952	OCRL	OMIM:309000
HP:0008056	Aplasia/Hypoplasia affecting the eye	4952	OCRL	ORPHA:534
HP:0008056	Aplasia/Hypoplasia affecting the eye	157570	ESCO2	ORPHA:3103
HP:0008056	Aplasia/Hypoplasia affecting the eye	157570	ESCO2	OMIM:268300
HP:0008056	Aplasia/Hypoplasia affecting the eye	8085	KMT2D	OMIM:620186
HP:0008056	Aplasia/Hypoplasia affecting the eye	23137	SMC5	OMIM:620185
HP:0008056	Aplasia/Hypoplasia affecting the eye	5727	PTCH1	OMIM:610828
HP:0008056	Aplasia/Hypoplasia affecting the eye	5727	PTCH1	OMIM:109400
HP:0008056	Aplasia/Hypoplasia affecting the eye	5727	PTCH1	ORPHA:77301
HP:0008056	Aplasia/Hypoplasia affecting the eye	79718	TBL1XR1	OMIM:602342
HP:0008056	Aplasia/Hypoplasia affecting the eye	79718	TBL1XR1	ORPHA:487825
HP:0008056	Aplasia/Hypoplasia affecting the eye	4089	SMAD4	OMIM:139210
HP:0008056	Aplasia/Hypoplasia affecting the eye	5159	PDGFRB	OMIM:601812
HP:0008056	Aplasia/Hypoplasia affecting the eye	7837	PXDN	OMIM:269400
HP:0008056	Aplasia/Hypoplasia affecting the eye	63895	PIEZO2	OMIM:248700
HP:0008056	Aplasia/Hypoplasia affecting the eye	285203	EOGT	OMIM:615297
HP:0008056	Aplasia/Hypoplasia affecting the eye	285203	EOGT	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	11023	VAX1	OMIM:614402
HP:0008056	Aplasia/Hypoplasia affecting the eye	93426	SYCE1	OMIM:616947
HP:0008056	Aplasia/Hypoplasia affecting the eye	6513	SLC2A1	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	8831	SYNGAP1	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	1173	AP2M1	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	6323	SCN1A	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	340533	NEXMIF	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	1106	CHD2	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	6529	SLC6A1	ORPHA:1942
HP:0008056	Aplasia/Hypoplasia affecting the eye	257	ALX3	OMIM:136760
HP:0008056	Aplasia/Hypoplasia affecting the eye	257	ALX3	ORPHA:391474
HP:0008056	Aplasia/Hypoplasia affecting the eye	404672	GTF2H5	OMIM:616395
HP:0008056	Aplasia/Hypoplasia affecting the eye	54101	RIPK4	OMIM:263650
HP:0008056	Aplasia/Hypoplasia affecting the eye	60529	ALX4	ORPHA:228390
HP:0008056	Aplasia/Hypoplasia affecting the eye	60529	ALX4	OMIM:613451
HP:0008056	Aplasia/Hypoplasia affecting the eye	26173	INTS1	OMIM:618571
HP:0008056	Aplasia/Hypoplasia affecting the eye	2303	FOXC2	OMIM:153400
HP:0008056	Aplasia/Hypoplasia affecting the eye	2702	GJA5	OMIM:612474
HP:0008056	Aplasia/Hypoplasia affecting the eye	2703	GJA8	OMIM:612474
HP:0008056	Aplasia/Hypoplasia affecting the eye	27152	INTU	OMIM:617925
HP:0008056	Aplasia/Hypoplasia affecting the eye	3720	JARID2	OMIM:620098
HP:0008056	Aplasia/Hypoplasia affecting the eye	2737	GLI3	ORPHA:672
HP:0008056	Aplasia/Hypoplasia affecting the eye	2737	GLI3	OMIM:146510
HP:0008056	Aplasia/Hypoplasia affecting the eye	160418	TMTC3	OMIM:617255
HP:0008056	Aplasia/Hypoplasia affecting the eye	8092	ALX1	OMIM:613456
HP:0008056	Aplasia/Hypoplasia affecting the eye	8092	ALX1	ORPHA:306542
HP:0008056	Aplasia/Hypoplasia affecting the eye	5309	PITX3	OMIM:610623
HP:0008056	Aplasia/Hypoplasia affecting the eye	23384	SPECC1L	OMIM:600251
HP:0008056	Aplasia/Hypoplasia affecting the eye	170302	ARX	OMIM:308350
HP:0008056	Aplasia/Hypoplasia affecting the eye	10733	PLK4	OMIM:616171
HP:0008056	Aplasia/Hypoplasia affecting the eye	473	RERE	OMIM:616975
HP:0008056	Aplasia/Hypoplasia affecting the eye	473	RERE	ORPHA:494344
HP:0008056	Aplasia/Hypoplasia affecting the eye	23291	FBXW11	OMIM:618914
HP:0008056	Aplasia/Hypoplasia affecting the eye	10413	YAP1	ORPHA:1473
HP:0008056	Aplasia/Hypoplasia affecting the eye	10413	YAP1	OMIM:120433
HP:0008056	Aplasia/Hypoplasia affecting the eye	387700	SLC16A12	OMIM:612018
HP:0008056	Aplasia/Hypoplasia affecting the eye	10982	MAPRE2	OMIM:616734
HP:0008056	Aplasia/Hypoplasia affecting the eye	10982	MAPRE2	ORPHA:2505
HP:0008056	Aplasia/Hypoplasia affecting the eye	4041	LRP5	OMIM:259770
HP:0008056	Aplasia/Hypoplasia affecting the eye	4041	LRP5	ORPHA:2788
HP:0008056	Aplasia/Hypoplasia affecting the eye	4041	LRP5	ORPHA:891
HP:0008056	Aplasia/Hypoplasia affecting the eye	2068	ERCC2	OMIM:610756
HP:0008056	Aplasia/Hypoplasia affecting the eye	2068	ERCC2	ORPHA:1466
HP:0008056	Aplasia/Hypoplasia affecting the eye	2068	ERCC2	OMIM:601675
HP:0008056	Aplasia/Hypoplasia affecting the eye	2068	ERCC2	OMIM:278730
HP:0008056	Aplasia/Hypoplasia affecting the eye	4810	NHS	OMIM:302350
HP:0008056	Aplasia/Hypoplasia affecting the eye	4810	NHS	ORPHA:627
HP:0008056	Aplasia/Hypoplasia affecting the eye	22930	RAB3GAP1	OMIM:600118
HP:0008056	Aplasia/Hypoplasia affecting the eye	22930	RAB3GAP1	ORPHA:2510
HP:0008056	Aplasia/Hypoplasia affecting the eye	203068	TUBB	OMIM:615771
HP:0008056	Aplasia/Hypoplasia affecting the eye	203068	TUBB	OMIM:156610
HP:0008056	Aplasia/Hypoplasia affecting the eye	203068	TUBB	ORPHA:2505
HP:0008056	Aplasia/Hypoplasia affecting the eye	92255	LMBRD2	OMIM:619694
HP:0008056	Aplasia/Hypoplasia affecting the eye	5925	RB1	ORPHA:1587
HP:0008056	Aplasia/Hypoplasia affecting the eye	23511	NUP188	OMIM:618804
HP:0008056	Aplasia/Hypoplasia affecting the eye	26007	TKFC	OMIM:618805
HP:0008056	Aplasia/Hypoplasia affecting the eye	1147	CHUK	OMIM:619339
HP:0008056	Aplasia/Hypoplasia affecting the eye	2248	FGF3	ORPHA:2791
HP:0008056	Aplasia/Hypoplasia affecting the eye	1312	COMT	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	221037	JMJD1C	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	2812	GP1BB	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	6239	RREB1	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	6899	TBX1	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	7290	HIRA	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	9632	SEC24C	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	7353	UFD1	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	421	ARVCF	ORPHA:567
HP:0008056	Aplasia/Hypoplasia affecting the eye	444	ASPH	OMIM:601552
HP:0008056	Aplasia/Hypoplasia affecting the eye	338917	VSX2	OMIM:610092
HP:0008056	Aplasia/Hypoplasia affecting the eye	338917	VSX2	OMIM:610093
HP:0008056	Aplasia/Hypoplasia affecting the eye	1822	ATN1	OMIM:618494
HP:0008056	Aplasia/Hypoplasia affecting the eye	5147	PDE6D	OMIM:615665
HP:0008056	Aplasia/Hypoplasia affecting the eye	128637	TBC1D20	OMIM:615663
HP:0008056	Aplasia/Hypoplasia affecting the eye	128637	TBC1D20	ORPHA:2510
HP:0008056	Aplasia/Hypoplasia affecting the eye	2071	ERCC3	OMIM:610651
HP:0008056	Aplasia/Hypoplasia affecting the eye	55644	OSGEP	OMIM:617729
HP:0008056	Aplasia/Hypoplasia affecting the eye	57572	DOCK6	OMIM:614219
HP:0008056	Aplasia/Hypoplasia affecting the eye	57572	DOCK6	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	29980	DONSON	OMIM:251230
HP:0008056	Aplasia/Hypoplasia affecting the eye	60	ACTB	OMIM:243310
HP:0008056	Aplasia/Hypoplasia affecting the eye	668	FOXL2	OMIM:110100
HP:0008056	Aplasia/Hypoplasia affecting the eye	157680	VPS13B	ORPHA:193
HP:0008056	Aplasia/Hypoplasia affecting the eye	71	ACTG1	OMIM:614583
HP:0008056	Aplasia/Hypoplasia affecting the eye	9150	CTDP1	ORPHA:48431
HP:0008056	Aplasia/Hypoplasia affecting the eye	22931	RAB18	OMIM:614222
HP:0008056	Aplasia/Hypoplasia affecting the eye	22931	RAB18	ORPHA:2510
HP:0008056	Aplasia/Hypoplasia affecting the eye	29957	SLC25A24	OMIM:612289
HP:0008056	Aplasia/Hypoplasia affecting the eye	57514	ARHGAP31	OMIM:100300
HP:0008056	Aplasia/Hypoplasia affecting the eye	57514	ARHGAP31	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	4329	ALDH6A1	OMIM:614105
HP:0008056	Aplasia/Hypoplasia affecting the eye	84172	POLR1B	ORPHA:861
HP:0008056	Aplasia/Hypoplasia affecting the eye	9533	POLR1C	ORPHA:861
HP:0008056	Aplasia/Hypoplasia affecting the eye	51082	POLR1D	ORPHA:861
HP:0008056	Aplasia/Hypoplasia affecting the eye	6949	TCOF1	ORPHA:861
HP:0008056	Aplasia/Hypoplasia affecting the eye	136647	MPLKIP	OMIM:234050
HP:0008056	Aplasia/Hypoplasia affecting the eye	5290	PIK3CA	OMIM:602501
HP:0008056	Aplasia/Hypoplasia affecting the eye	374879	ZNF699	OMIM:619488
HP:0008056	Aplasia/Hypoplasia affecting the eye	5130	PCYT1A	ORPHA:85167
HP:0008056	Aplasia/Hypoplasia affecting the eye	6299	SALL1	ORPHA:857
HP:0008056	Aplasia/Hypoplasia affecting the eye	51339	DACT1	ORPHA:857
HP:0008056	Aplasia/Hypoplasia affecting the eye	3516	RBPJ	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	4851	NOTCH1	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	54567	DLL4	ORPHA:974
HP:0008056	Aplasia/Hypoplasia affecting the eye	113246	C12orf57	OMIM:218340
HP:0008056	Aplasia/Hypoplasia affecting the eye	5264	PHYH	ORPHA:773
HP:0008056	Aplasia/Hypoplasia affecting the eye	5191	PEX7	ORPHA:773
HP:0008056	Aplasia/Hypoplasia affecting the eye	1499	CTNNB1	ORPHA:891
HP:0008056	Aplasia/Hypoplasia affecting the eye	23554	TSPAN12	ORPHA:891
HP:0008056	Aplasia/Hypoplasia affecting the eye	79797	ZNF408	ORPHA:891
HP:0008056	Aplasia/Hypoplasia affecting the eye	10084	PQBP1	OMIM:309500
HP:0008056	Aplasia/Hypoplasia affecting the eye	57020	VPS35L	OMIM:619135
HP:0008056	Aplasia/Hypoplasia affecting the eye	153241	CEP120	OMIM:616300
HP:0008056	Aplasia/Hypoplasia affecting the eye	387	RHOA	OMIM:618727
HP:0008056	Aplasia/Hypoplasia affecting the eye	5557	PRIM1	OMIM:620005
HP:0008056	Aplasia/Hypoplasia affecting the eye	6496	SIX3	OMIM:157170
HP:0008056	Aplasia/Hypoplasia affecting the eye	5076	PAX2	OMIM:120330
HP:0008056	Aplasia/Hypoplasia affecting the eye	6913	TBX15	OMIM:260660
HP:0008056	Aplasia/Hypoplasia affecting the eye	85378	TUBGCP6	OMIM:251270
HP:0008056	Aplasia/Hypoplasia affecting the eye	10058	ABCB6	OMIM:614497
HP:0008056	Aplasia/Hypoplasia affecting the eye	50801	KCNK4	OMIM:618381
HP:0008056	Aplasia/Hypoplasia affecting the eye	22827	PUF60	ORPHA:508498
HP:0008056	Aplasia/Hypoplasia affecting the eye	22827	PUF60	ORPHA:508488
HP:0008056	Aplasia/Hypoplasia affecting the eye	22827	PUF60	OMIM:615583
HP:0008056	Aplasia/Hypoplasia affecting the eye	2077	ERF	OMIM:600775
HP:0008056	Aplasia/Hypoplasia affecting the eye	23126	POGZ	OMIM:616364
HP:0008056	Aplasia/Hypoplasia affecting the eye	7737	RNF113A	OMIM:300953
HP:0008056	Aplasia/Hypoplasia affecting the eye	8022	LHX3	ORPHA:226307
HP:0008056	Aplasia/Hypoplasia affecting the eye	8573	CASK	OMIM:300749
HP:0008056	Aplasia/Hypoplasia affecting the eye	8573	CASK	ORPHA:163937
HP:0008056	Aplasia/Hypoplasia affecting the eye	775	CACNA1C	OMIM:620029
HP:0008056	Aplasia/Hypoplasia affecting the eye	6334	SCN8A	OMIM:614306
HP:0008056	Aplasia/Hypoplasia affecting the eye	1788	DNMT3A	OMIM:615879
HP:0008056	Aplasia/Hypoplasia affecting the eye	51807	TUBA8	ORPHA:250972
HP:0008056	Aplasia/Hypoplasia affecting the eye	54820	NDE1	ORPHA:2177
HP:0008056	Aplasia/Hypoplasia affecting the eye	8854	ALDH1A2	OMIM:620025
HP:0008056	Aplasia/Hypoplasia affecting the eye	25914	RTTN	ORPHA:468631
HP:0008056	Aplasia/Hypoplasia affecting the eye	25914	RTTN	OMIM:614833
HP:0008056	Aplasia/Hypoplasia affecting the eye	8405	SPOP	OMIM:618828
HP:0008056	Aplasia/Hypoplasia affecting the eye	5293	PIK3CD	ORPHA:221139
HP:0008056	Aplasia/Hypoplasia affecting the eye	90417	KNSTRN	ORPHA:221139
HP:0008056	Aplasia/Hypoplasia affecting the eye	256297	PTF1A	OMIM:609069
HP:0008056	Aplasia/Hypoplasia affecting the eye	256297	PTF1A	ORPHA:65288
HP:0008056	Aplasia/Hypoplasia affecting the eye	55593	OTUD5	OMIM:301056
HP:0008056	Aplasia/Hypoplasia affecting the eye	3190	HNRNPK	ORPHA:453504
HP:0008056	Aplasia/Hypoplasia affecting the eye	3190	HNRNPK	ORPHA:352665
HP:0008056	Aplasia/Hypoplasia affecting the eye	55210	ATAD3A	ORPHA:496790
HP:0008056	Aplasia/Hypoplasia affecting the eye	57459	GATAD2B	ORPHA:363686
HP:0008056	Aplasia/Hypoplasia affecting the eye	29925	GMPPB	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	79147	FKRP	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	79147	FKRP	OMIM:236670
HP:0008056	Aplasia/Hypoplasia affecting the eye	29954	POMT2	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	29954	POMT2	OMIM:236670
HP:0008056	Aplasia/Hypoplasia affecting the eye	84197	POMK	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	55624	POMGNT1	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	10585	POMT1	ORPHA:370959
HP:0008056	Aplasia/Hypoplasia affecting the eye	10585	POMT1	OMIM:236670
HP:0008056	Aplasia/Hypoplasia affecting the eye	5605	MAP2K2	OMIM:615280
HP:0008056	Aplasia/Hypoplasia affecting the eye	8443	GNPAT	OMIM:222765
HP:0008056	Aplasia/Hypoplasia affecting the eye	2222	FDFT1	OMIM:618156
HP:0008056	Aplasia/Hypoplasia affecting the eye	29123	ANKRD11	ORPHA:261250
HP:0008056	Aplasia/Hypoplasia affecting the eye	8882	ZPR1	OMIM:619321
HP:0008056	Aplasia/Hypoplasia affecting the eye	2893	GRIA4	OMIM:617864
HP:0008056	Aplasia/Hypoplasia affecting the eye	10730	YME1L1	OMIM:617302
HP:0008056	Aplasia/Hypoplasia affecting the eye	5500	PPP1CB	OMIM:617506
HP:0008056	Aplasia/Hypoplasia affecting the eye	29072	SETD2	OMIM:620157
HP:0008056	Aplasia/Hypoplasia affecting the eye	29072	SETD2	OMIM:620155
HP:0008056	Aplasia/Hypoplasia affecting the eye	57688	ZSWIM6	OMIM:603671
HP:0008056	Aplasia/Hypoplasia affecting the eye	9215	LARGE1	OMIM:236670
HP:0008056	Aplasia/Hypoplasia affecting the eye	2218	FKTN	OMIM:236670
HP:0008056	Aplasia/Hypoplasia affecting the eye	23499	MACF1	ORPHA:572013
HP:0008056	Aplasia/Hypoplasia affecting the eye	387119	CEP85L	ORPHA:572013
HP:0008056	Aplasia/Hypoplasia affecting the eye	7846	TUBA1A	ORPHA:171680
HP:0008056	Aplasia/Hypoplasia affecting the eye	4208	MEF2C	ORPHA:228384
HP:0008056	Aplasia/Hypoplasia affecting the eye	6651	SON	ORPHA:500150
HP:0008056	Aplasia/Hypoplasia affecting the eye	51360	MBTPS2	ORPHA:85284
HP:0008056	Aplasia/Hypoplasia affecting the eye	729920	CRPPA	OMIM:614643
HP:0008056	Aplasia/Hypoplasia affecting the eye	9968	MED12	ORPHA:93932
HP:0008056	Aplasia/Hypoplasia affecting the eye	10381	TUBB3	ORPHA:300570
HP:0008056	Aplasia/Hypoplasia affecting the eye	9928	KIF14	OMIM:617914
HP:0008056	Aplasia/Hypoplasia affecting the eye	1063	CENPF	OMIM:243605
HP:0008056	Aplasia/Hypoplasia affecting the eye	9401	RECQL4	OMIM:218600
HP:0008056	Aplasia/Hypoplasia affecting the eye	148789	B3GALNT2	OMIM:615181
HP:0008056	Aplasia/Hypoplasia affecting the eye	80173	IFT74	OMIM:619582
HP:0008056	Aplasia/Hypoplasia affecting the eye	25930	PTPN23	OMIM:618890
HP:0008056	Aplasia/Hypoplasia affecting the eye	132158	GLYCTK	OMIM:220120
HP:0008056	Aplasia/Hypoplasia affecting the eye	7545	ZIC1	OMIM:618736
HP:0008056	Aplasia/Hypoplasia affecting the eye	5518	PPP2R1A	ORPHA:457284
HP:0008056	Aplasia/Hypoplasia affecting the eye	4747	NEFL	ORPHA:101085
HP:0008056	Aplasia/Hypoplasia affecting the eye	80781	COL18A1	OMIM:267750
HP:0008056	Aplasia/Hypoplasia affecting the eye	57724	EPG5	OMIM:242840
HP:0008056	Aplasia/Hypoplasia affecting the eye	10682	EBP	OMIM:300960
HP:0008056	Aplasia/Hypoplasia affecting the eye	79803	HPS6	OMIM:614075
HP:0008056	Aplasia/Hypoplasia affecting the eye	1806	DPYD	ORPHA:1675
HP:0008056	Aplasia/Hypoplasia affecting the eye	8777	MPDZ	OMIM:615219
HP:0008056	Aplasia/Hypoplasia affecting the eye	4094	MAF	OMIM:610202
HP:0008056	Aplasia/Hypoplasia affecting the eye	1130	LYST	OMIM:214500
HP:0008056	Aplasia/Hypoplasia affecting the eye	51151	SLC45A2	OMIM:606574
HP:0008056	Aplasia/Hypoplasia affecting the eye	220202	ATOH7	ORPHA:91495
HP:0008056	Aplasia/Hypoplasia affecting the eye	8322	FZD4	ORPHA:91495
HP:0008056	Aplasia/Hypoplasia affecting the eye	833	CARS1	ORPHA:33364
HP:0008056	Aplasia/Hypoplasia affecting the eye	6897	TARS1	ORPHA:33364
HP:0008056	Aplasia/Hypoplasia affecting the eye	2961	GTF2E2	ORPHA:33364
HP:0008056	Aplasia/Hypoplasia affecting the eye	23389	MED13L	ORPHA:369891
HP:0008056	Aplasia/Hypoplasia affecting the eye	9653	HS2ST1	OMIM:619194
HP:0008056	Aplasia/Hypoplasia affecting the eye	55733	HHAT	ORPHA:1422
HP:0008056	Aplasia/Hypoplasia affecting the eye	55733	HHAT	OMIM:600092
HP:0008056	Aplasia/Hypoplasia affecting the eye	6786	STIM1	OMIM:612783
HP:0008056	Aplasia/Hypoplasia affecting the eye	406960	MIR184	OMIM:614303
HP:0008056	Aplasia/Hypoplasia affecting the eye	4036	LRP2	OMIM:222448
HP:0008056	Aplasia/Hypoplasia affecting the eye	30813	VSX1	OMIM:614195
HP:0008056	Aplasia/Hypoplasia affecting the eye	6663	SOX10	OMIM:611584
HP:0008056	Aplasia/Hypoplasia affecting the eye	4519	MT-CYB	ORPHA:137675
HP:0008056	Aplasia/Hypoplasia affecting the eye	2301	FOXE3	ORPHA:83461
HP:0008056	Aplasia/Hypoplasia affecting the eye	2301	FOXE3	OMIM:610256
HP:0008056	Aplasia/Hypoplasia affecting the eye	4796	TONSL	ORPHA:93357
HP:0008056	Aplasia/Hypoplasia affecting the eye	63915	BLOC1S5	OMIM:619172
HP:0008056	Aplasia/Hypoplasia affecting the eye	22926	ATF6	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	22926	ATF6	OMIM:616517
HP:0008056	Aplasia/Hypoplasia affecting the eye	5146	PDE6C	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	6103	RPGR	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	5149	PDE6H	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	2780	GNAT2	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	1261	CNGA3	ORPHA:49382
HP:0008056	Aplasia/Hypoplasia affecting the eye	1261	CNGA3	OMIM:216900
HP:0008056	Aplasia/Hypoplasia affecting the eye	778	CACNA1F	ORPHA:178333
HP:0008056	Aplasia/Hypoplasia affecting the eye	778	CACNA1F	OMIM:300600
HP:0008056	Aplasia/Hypoplasia affecting the eye	57479	PRR12	OMIM:619539
HP:0008056	Aplasia/Hypoplasia affecting the eye	7299	TYR	OMIM:203100
HP:0008056	Aplasia/Hypoplasia affecting the eye	7299	TYR	ORPHA:79431
HP:0008056	Aplasia/Hypoplasia affecting the eye	7299	TYR	ORPHA:79434
HP:0008056	Aplasia/Hypoplasia affecting the eye	4948	OCA2	OMIM:203200
HP:0008056	Aplasia/Hypoplasia affecting the eye	4948	OCA2	ORPHA:79432
HP:0008056	Aplasia/Hypoplasia affecting the eye	4157	MC1R	OMIM:203200
HP:0008056	Aplasia/Hypoplasia affecting the eye	4157	MC1R	ORPHA:79432
HP:0008056	Aplasia/Hypoplasia affecting the eye	7360	UGP2	OMIM:618744
HP:0008056	Aplasia/Hypoplasia affecting the eye	92154	MTSS2	OMIM:620086
HP:0008056	Aplasia/Hypoplasia affecting the eye	8943	AP3D1	ORPHA:54
HP:0008056	Aplasia/Hypoplasia affecting the eye	4935	GPR143	ORPHA:54
HP:0008056	Aplasia/Hypoplasia affecting the eye	4935	GPR143	OMIM:300500
HP:0008056	Aplasia/Hypoplasia affecting the eye	146167	SLC38A8	OMIM:609218
HP:0008056	Aplasia/Hypoplasia affecting the eye	89781	HPS4	OMIM:614073
HP:0008056	Aplasia/Hypoplasia affecting the eye	11234	HPS5	OMIM:614074
HP:0008056	Aplasia/Hypoplasia affecting the eye	388552	BLOC1S3	OMIM:614077
HP:0008056	Aplasia/Hypoplasia affecting the eye	1638	DCT	OMIM:619165
HP:0008056	Aplasia/Hypoplasia affecting the eye	157657	CFAP418	OMIM:617406
HP:0008056	Aplasia/Hypoplasia affecting the eye	8517	IKBKG	OMIM:308300
HP:0008056	Aplasia/Hypoplasia affecting the eye	60386	SLC25A19	OMIM:607196
HP:0008056	Aplasia/Hypoplasia affecting the eye	4758	NEU1	ORPHA:93400
HP:0008056	Aplasia/Hypoplasia affecting the eye	57167	SALL4	ORPHA:233
HP:0008056	Aplasia/Hypoplasia affecting the eye	57167	SALL4	ORPHA:959
HP:0008056	Aplasia/Hypoplasia affecting the eye	57167	SALL4	OMIM:607323
HP:0008056	Aplasia/Hypoplasia affecting the eye	9935	MAFB	ORPHA:233
HP:0008056	Aplasia/Hypoplasia affecting the eye	1123	CHN1	ORPHA:233
HP:0008056	Aplasia/Hypoplasia affecting the eye	3192	HNRNPU	ORPHA:238769
HP:0008056	Aplasia/Hypoplasia affecting the eye	79644	SRD5A3	ORPHA:324737
HP:0008056	Aplasia/Hypoplasia affecting the eye	9342	SNAP29	OMIM:609528
HP:0008056	Aplasia/Hypoplasia affecting the eye	7025	NR2F1	ORPHA:401777
HP:0008056	Aplasia/Hypoplasia affecting the eye	324	APC	ORPHA:261584
HP:0008056	Aplasia/Hypoplasia affecting the eye	54802	TRIT1	OMIM:617873
HP:0008056	Aplasia/Hypoplasia affecting the eye	55770	EXOC2	OMIM:619306
HP:0008056	Aplasia/Hypoplasia affecting the eye	5361	PLXNA1	OMIM:619955
HP:0008056	Aplasia/Hypoplasia affecting the eye	23259	DDHD2	ORPHA:320380
HP:0008056	Aplasia/Hypoplasia affecting the eye	9573	GDF3	OMIM:613703
HP:0008056	Aplasia/Hypoplasia affecting the eye	392255	GDF6	OMIM:613703
HP:0008056	Aplasia/Hypoplasia affecting the eye	4784	NFIX	ORPHA:420179
HP:0008056	Aplasia/Hypoplasia affecting the eye	11128	POLR3A	ORPHA:3455
HP:0008056	Aplasia/Hypoplasia affecting the eye	415	ARSL	ORPHA:79345
HP:0008056	Aplasia/Hypoplasia affecting the eye	4286	MITF	OMIM:193510
HP:0008056	Aplasia/Hypoplasia affecting the eye	5077	PAX3	OMIM:193500
HP:0008056	Aplasia/Hypoplasia affecting the eye	627	BDNF	ORPHA:893
HP:0008056	Aplasia/Hypoplasia affecting the eye	5308	PITX2	ORPHA:782
HP:0008056	Aplasia/Hypoplasia affecting the eye	2296	FOXC1	ORPHA:782
HP:0008056	Aplasia/Hypoplasia affecting the eye	84314	TMEM107	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	26123	TCTN3	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	79867	TCTN2	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	80776	B9D2	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	79600	TCTN1	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	57096	RPGRIP1	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	79848	CSPP1	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	80184	CEP290	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	51259	TMEM216	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	57545	CC2D2A	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	79583	TMEM231	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	91147	TMEM67	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	79770	TXNDC15	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	27077	B9D1	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	23322	RPGRIP1L	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	54903	MKS1	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	65062	TMEM237	ORPHA:564
HP:0008056	Aplasia/Hypoplasia affecting the eye	6804	STX1A	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	7461	CLIP2	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	84277	DNAJC30	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	8468	FKBP6	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	5982	RFC2	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	2969	GTF2I	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	3984	LIMK1	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	9569	GTF2IRD1	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	155382	VPS37D	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	155368	METTL27	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	114049	BUD23	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	7458	EIF4H	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	84163	GTF2IRD2	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	9275	BCL7B	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	26608	TBL2	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	653361	NCF1	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	135886	TMEM270	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	51085	MLXIPL	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	9031	BAZ1B	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	2006	ELN	ORPHA:904
HP:0008056	Aplasia/Hypoplasia affecting the eye	672	BRCA1	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	10459	MAD2L2	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	7516	XRCC2	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	29089	UBE2T	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	675	BRCA2	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	55120	FANCL	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2177	FANCD2	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2175	FANCA	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2187	FANCB	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2176	FANCC	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2178	FANCE	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2188	FANCF	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2189	FANCG	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	5888	RAD51	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	5889	RAD51C	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	55159	RFWD3	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	83990	BRIP1	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	57697	FANCM	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	79728	PALB2	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	84464	SLX4	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	2072	ERCC4	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	55215	FANCI	ORPHA:84
HP:0008056	Aplasia/Hypoplasia affecting the eye	4693	NDP	ORPHA:190
HP:0008056	Aplasia/Hypoplasia affecting the eye	6023	RMRP	ORPHA:175
HP:0008056	Aplasia/Hypoplasia affecting the eye	6905	TBCE	ORPHA:2323
HP:0008056	Aplasia/Hypoplasia affecting the eye	1717	DHCR7	ORPHA:818
HP:0008056	Aplasia/Hypoplasia affecting the eye	3339	HSPG2	ORPHA:800
HP:0008056	Aplasia/Hypoplasia affecting the eye	84282	RNF135	ORPHA:137634
HP:0008056	Aplasia/Hypoplasia affecting the eye	5631	PRPS1	ORPHA:423479
HP:0008056	Aplasia/Hypoplasia affecting the eye	8842	PROM1	ORPHA:827
HP:0008056	Aplasia/Hypoplasia affecting the eye	5961	PRPH2	ORPHA:827
HP:0008056	Aplasia/Hypoplasia affecting the eye	6785	ELOVL4	ORPHA:827
HP:0008056	Aplasia/Hypoplasia affecting the eye	24	ABCA4	ORPHA:827
HP:0008056	Aplasia/Hypoplasia affecting the eye	54714	CNGB3	ORPHA:827
HP:0008056	Aplasia/Hypoplasia affecting the eye	283652	SLC24A5	ORPHA:370097
HP:0008056	Aplasia/Hypoplasia affecting the eye	4644	MYO5A	ORPHA:33445
HP:0008056	Aplasia/Hypoplasia affecting the eye	54765	TRIM44	ORPHA:250923
HP:0008056	Aplasia/Hypoplasia affecting the eye	1280	COL2A1	ORPHA:485
HP:0008056	Aplasia/Hypoplasia affecting the eye	64132	XYLT2	ORPHA:85194
HP:0008056	Aplasia/Hypoplasia affecting the eye	220	ALDH1A3	OMIM:615113
HP:0008056	Aplasia/Hypoplasia affecting the eye	64093	SMOC1	ORPHA:1106
HP:0008056	Aplasia/Hypoplasia affecting the eye	55636	CHD7	OMIM:214800
HP:0008056	Aplasia/Hypoplasia affecting the eye	6650	CAPN15	OMIM:619318
HP:0008056	Aplasia/Hypoplasia affecting the eye	29887	SNX10	OMIM:615085
HP:0008056	Aplasia/Hypoplasia affecting the eye	114928	GPRASP2	OMIM:301018
HP:0008056	Aplasia/Hypoplasia affecting the eye	4010	LMX1B	OMIM:161200
HP:0008056	Aplasia/Hypoplasia affecting the eye	27151	CPAMD8	OMIM:617319
HP:0008056	Aplasia/Hypoplasia affecting the eye	3166	HMX1	OMIM:612109
HP:0008056	Aplasia/Hypoplasia affecting the eye	4990	SIX6	OMIM:206900
HP:0008056	Aplasia/Hypoplasia affecting the eye	6657	SOX2	OMIM:206900
HP:0008056	Aplasia/Hypoplasia affecting the eye	2200	FBN1	OMIM:608328
HP:0008056	Aplasia/Hypoplasia affecting the eye	2200	FBN1	OMIM:154700
HP:0008056	Aplasia/Hypoplasia affecting the eye	4053	LTBP2	OMIM:614819
HP:0008056	Aplasia/Hypoplasia affecting the eye	4053	LTBP2	OMIM:251750
HP:0008056	Aplasia/Hypoplasia affecting the eye	81794	ADAMTS10	OMIM:277600
HP:0008056	Aplasia/Hypoplasia affecting the eye	7490	WT1	OMIM:106210
HP:0008056	Aplasia/Hypoplasia affecting the eye	5080	PAX6	OMIM:106210
HP:0008056	Aplasia/Hypoplasia affecting the eye	5626	PROP1	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	2736	GLI2	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	89884	LHX4	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	89884	LHX4	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	3170	FOXA2	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	5449	POU1F1	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	8820	HESX1	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	8820	HESX1	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	8820	HESX1	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	5015	OTX2	ORPHA:95494
HP:0008056	Aplasia/Hypoplasia affecting the eye	5015	OTX2	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	10735	STAG2	OMIM:301043
HP:0008056	Aplasia/Hypoplasia affecting the eye	128674	PROKR2	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	128674	PROKR2	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	55717	WDR11	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	6091	ROBO1	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	50937	CDON	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	23432	GPR161	ORPHA:95496
HP:0008056	Aplasia/Hypoplasia affecting the eye	9578	CDC42BPB	OMIM:619841
HP:0008056	Aplasia/Hypoplasia affecting the eye	2260	FGFR1	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	6658	SOX3	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	9915	ARNT2	ORPHA:3157
HP:0008056	Aplasia/Hypoplasia affecting the eye	7473	WNT3	ORPHA:3301
HP:0008056	Aplasia/Hypoplasia affecting the eye	340419	RSPO2	ORPHA:3301
HP:0008057	Aplasia/Hypoplasia affecting the fundus	50801	KCNK4	OMIM:618381
HP:0008057	Aplasia/Hypoplasia affecting the fundus	22827	PUF60	ORPHA:508498
HP:0008057	Aplasia/Hypoplasia affecting the fundus	22827	PUF60	ORPHA:508488
HP:0008057	Aplasia/Hypoplasia affecting the fundus	22827	PUF60	OMIM:615583
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2077	ERF	OMIM:600775
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7025	NR2F1	ORPHA:401777
HP:0008057	Aplasia/Hypoplasia affecting the fundus	23126	POGZ	OMIM:616364
HP:0008057	Aplasia/Hypoplasia affecting the fundus	23259	DDHD2	OMIM:615033
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7737	RNF113A	OMIM:300953
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8022	LHX3	ORPHA:226307
HP:0008057	Aplasia/Hypoplasia affecting the fundus	220	ALDH1A3	OMIM:615113
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8573	CASK	OMIM:300749
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8573	CASK	ORPHA:163937
HP:0008057	Aplasia/Hypoplasia affecting the fundus	775	CACNA1C	OMIM:620029
HP:0008057	Aplasia/Hypoplasia affecting the fundus	84282	RNF135	ORPHA:137634
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6334	SCN8A	OMIM:614306
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1788	DNMT3A	OMIM:615879
HP:0008057	Aplasia/Hypoplasia affecting the fundus	51807	TUBA8	ORPHA:250972
HP:0008057	Aplasia/Hypoplasia affecting the fundus	54820	NDE1	ORPHA:2177
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8854	ALDH1A2	OMIM:620025
HP:0008057	Aplasia/Hypoplasia affecting the fundus	25914	RTTN	ORPHA:468631
HP:0008057	Aplasia/Hypoplasia affecting the fundus	25914	RTTN	OMIM:614833
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8405	SPOP	OMIM:618828
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5293	PIK3CD	ORPHA:221139
HP:0008057	Aplasia/Hypoplasia affecting the fundus	90417	KNSTRN	ORPHA:221139
HP:0008057	Aplasia/Hypoplasia affecting the fundus	415	ARSL	ORPHA:79345
HP:0008057	Aplasia/Hypoplasia affecting the fundus	256297	PTF1A	OMIM:609069
HP:0008057	Aplasia/Hypoplasia affecting the fundus	256297	PTF1A	ORPHA:65288
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55593	OTUD5	OMIM:301056
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3190	HNRNPK	ORPHA:453504
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3190	HNRNPK	ORPHA:352665
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55210	ATAD3A	ORPHA:496790
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57459	GATAD2B	ORPHA:363686
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29925	GMPPB	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	79147	FKRP	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	79147	FKRP	OMIM:236670
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29954	POMT2	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29954	POMT2	OMIM:236670
HP:0008057	Aplasia/Hypoplasia affecting the fundus	84197	POMK	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55624	POMGNT1	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10585	POMT1	ORPHA:370959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10585	POMT1	OMIM:236670
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5605	MAP2K2	OMIM:615280
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8443	GNPAT	OMIM:222765
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2222	FDFT1	OMIM:618156
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29123	ANKRD11	ORPHA:261250
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8882	ZPR1	OMIM:619321
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55215	FANCI	OMIM:609053
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2893	GRIA4	OMIM:617864
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10730	YME1L1	OMIM:617302
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5500	PPP1CB	OMIM:617506
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29072	SETD2	OMIM:620157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	29072	SETD2	OMIM:620155
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57688	ZSWIM6	OMIM:603671
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9215	LARGE1	OMIM:236670
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2218	FKTN	OMIM:236670
HP:0008057	Aplasia/Hypoplasia affecting the fundus	23499	MACF1	ORPHA:572013
HP:0008057	Aplasia/Hypoplasia affecting the fundus	387119	CEP85L	ORPHA:572013
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7846	TUBA1A	ORPHA:171680
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4208	MEF2C	ORPHA:228384
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4784	NFIX	OMIM:602535
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6651	SON	ORPHA:500150
HP:0008057	Aplasia/Hypoplasia affecting the fundus	51360	MBTPS2	ORPHA:85284
HP:0008057	Aplasia/Hypoplasia affecting the fundus	729920	CRPPA	OMIM:614643
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9968	MED12	ORPHA:93932
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10381	TUBB3	ORPHA:300570
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9928	KIF14	OMIM:617914
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1063	CENPF	OMIM:243605
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9401	RECQL4	OMIM:218600
HP:0008057	Aplasia/Hypoplasia affecting the fundus	148789	B3GALNT2	OMIM:615181
HP:0008057	Aplasia/Hypoplasia affecting the fundus	80173	IFT74	OMIM:619582
HP:0008057	Aplasia/Hypoplasia affecting the fundus	25930	PTPN23	OMIM:618890
HP:0008057	Aplasia/Hypoplasia affecting the fundus	132158	GLYCTK	OMIM:220120
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7545	ZIC1	OMIM:618736
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5518	PPP2R1A	ORPHA:457284
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4747	NEFL	ORPHA:101085
HP:0008057	Aplasia/Hypoplasia affecting the fundus	80781	COL18A1	OMIM:267750
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57724	EPG5	OMIM:242840
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10682	EBP	OMIM:300960
HP:0008057	Aplasia/Hypoplasia affecting the fundus	79803	HPS6	OMIM:614075
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1806	DPYD	ORPHA:1675
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8777	MPDZ	OMIM:615219
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4094	MAF	OMIM:610202
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1130	LYST	OMIM:214500
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4693	NDP	ORPHA:91495
HP:0008057	Aplasia/Hypoplasia affecting the fundus	220202	ATOH7	ORPHA:91495
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8322	FZD4	ORPHA:91495
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3166	HMX1	OMIM:612109
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3913	LAMB2	OMIM:609049
HP:0008057	Aplasia/Hypoplasia affecting the fundus	63915	BLOC1S5	OMIM:619172
HP:0008057	Aplasia/Hypoplasia affecting the fundus	22926	ATF6	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	22926	ATF6	OMIM:616517
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5146	PDE6C	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6103	RPGR	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5149	PDE6H	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2780	GNAT2	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1261	CNGA3	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1261	CNGA3	OMIM:216900
HP:0008057	Aplasia/Hypoplasia affecting the fundus	54714	CNGB3	ORPHA:49382
HP:0008057	Aplasia/Hypoplasia affecting the fundus	778	CACNA1F	ORPHA:178333
HP:0008057	Aplasia/Hypoplasia affecting the fundus	778	CACNA1F	OMIM:300600
HP:0008057	Aplasia/Hypoplasia affecting the fundus	283652	SLC24A5	OMIM:113750
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57479	PRR12	OMIM:619539
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7299	TYR	OMIM:203100
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7299	TYR	ORPHA:79431
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7299	TYR	ORPHA:79434
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4948	OCA2	OMIM:203200
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4948	OCA2	ORPHA:79432
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4157	MC1R	OMIM:203200
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4157	MC1R	ORPHA:79432
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7360	UGP2	OMIM:618744
HP:0008057	Aplasia/Hypoplasia affecting the fundus	92154	MTSS2	OMIM:620086
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8943	AP3D1	ORPHA:54
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4935	GPR143	ORPHA:54
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4935	GPR143	OMIM:300500
HP:0008057	Aplasia/Hypoplasia affecting the fundus	146167	SLC38A8	OMIM:609218
HP:0008057	Aplasia/Hypoplasia affecting the fundus	89781	HPS4	OMIM:614073
HP:0008057	Aplasia/Hypoplasia affecting the fundus	11234	HPS5	OMIM:614074
HP:0008057	Aplasia/Hypoplasia affecting the fundus	388552	BLOC1S3	OMIM:614077
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1638	DCT	OMIM:619165
HP:0008057	Aplasia/Hypoplasia affecting the fundus	157657	CFAP418	OMIM:617406
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9573	GDF3	OMIM:613703
HP:0008057	Aplasia/Hypoplasia affecting the fundus	392255	GDF6	OMIM:613703
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8517	IKBKG	OMIM:308300
HP:0008057	Aplasia/Hypoplasia affecting the fundus	60386	SLC25A19	OMIM:607196
HP:0008057	Aplasia/Hypoplasia affecting the fundus	51151	SLC45A2	ORPHA:79435
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4758	NEU1	ORPHA:93400
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57167	SALL4	ORPHA:233
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57167	SALL4	ORPHA:959
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57167	SALL4	OMIM:607323
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9935	MAFB	ORPHA:233
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1123	CHN1	ORPHA:233
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3192	HNRNPU	ORPHA:238769
HP:0008057	Aplasia/Hypoplasia affecting the fundus	79644	SRD5A3	ORPHA:324737
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9342	SNAP29	OMIM:609528
HP:0008057	Aplasia/Hypoplasia affecting the fundus	324	APC	ORPHA:261584
HP:0008057	Aplasia/Hypoplasia affecting the fundus	54802	TRIT1	OMIM:617873
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2187	FANCB	OMIM:300514
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55770	EXOC2	OMIM:619306
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5361	PLXNA1	OMIM:619955
HP:0008057	Aplasia/Hypoplasia affecting the fundus	11128	POLR3A	ORPHA:3455
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5631	PRPS1	ORPHA:423479
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8842	PROM1	ORPHA:827
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5961	PRPH2	ORPHA:827
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6785	ELOVL4	ORPHA:827
HP:0008057	Aplasia/Hypoplasia affecting the fundus	24	ABCA4	ORPHA:827
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4644	MYO5A	ORPHA:33445
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2296	FOXC1	ORPHA:250923
HP:0008057	Aplasia/Hypoplasia affecting the fundus	54765	TRIM44	ORPHA:250923
HP:0008057	Aplasia/Hypoplasia affecting the fundus	4990	SIX6	OMIM:206900
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6657	SOX2	OMIM:206900
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7490	WT1	OMIM:106210
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5080	PAX6	OMIM:106210
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5626	PROP1	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2736	GLI2	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	89884	LHX4	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	89884	LHX4	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	3170	FOXA2	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5449	POU1F1	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8820	HESX1	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8820	HESX1	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	8820	HESX1	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5015	OTX2	ORPHA:95494
HP:0008057	Aplasia/Hypoplasia affecting the fundus	5015	OTX2	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	10735	STAG2	OMIM:301043
HP:0008057	Aplasia/Hypoplasia affecting the fundus	128674	PROKR2	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	128674	PROKR2	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	55717	WDR11	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6091	ROBO1	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	50937	CDON	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	23432	GPR161	ORPHA:95496
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9578	CDC42BPB	OMIM:619841
HP:0008057	Aplasia/Hypoplasia affecting the fundus	2260	FGFR1	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6658	SOX3	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	9915	ARNT2	ORPHA:3157
HP:0008057	Aplasia/Hypoplasia affecting the fundus	7473	WNT3	ORPHA:3301
HP:0008057	Aplasia/Hypoplasia affecting the fundus	340419	RSPO2	ORPHA:3301
HP:0008058	Aplasia/Hypoplasia of the optic nerve	50801	KCNK4	OMIM:618381
HP:0008058	Aplasia/Hypoplasia of the optic nerve	22827	PUF60	ORPHA:508498
HP:0008058	Aplasia/Hypoplasia of the optic nerve	22827	PUF60	ORPHA:508488
HP:0008058	Aplasia/Hypoplasia of the optic nerve	22827	PUF60	OMIM:615583
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2077	ERF	OMIM:600775
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7025	NR2F1	ORPHA:401777
HP:0008058	Aplasia/Hypoplasia of the optic nerve	23126	POGZ	OMIM:616364
HP:0008058	Aplasia/Hypoplasia of the optic nerve	23259	DDHD2	OMIM:615033
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7737	RNF113A	OMIM:300953
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8022	LHX3	ORPHA:226307
HP:0008058	Aplasia/Hypoplasia of the optic nerve	220	ALDH1A3	OMIM:615113
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8573	CASK	OMIM:300749
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8573	CASK	ORPHA:163937
HP:0008058	Aplasia/Hypoplasia of the optic nerve	775	CACNA1C	OMIM:620029
HP:0008058	Aplasia/Hypoplasia of the optic nerve	84282	RNF135	ORPHA:137634
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6334	SCN8A	OMIM:614306
HP:0008058	Aplasia/Hypoplasia of the optic nerve	1788	DNMT3A	OMIM:615879
HP:0008058	Aplasia/Hypoplasia of the optic nerve	51807	TUBA8	ORPHA:250972
HP:0008058	Aplasia/Hypoplasia of the optic nerve	54820	NDE1	ORPHA:2177
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8854	ALDH1A2	OMIM:620025
HP:0008058	Aplasia/Hypoplasia of the optic nerve	25914	RTTN	ORPHA:468631
HP:0008058	Aplasia/Hypoplasia of the optic nerve	25914	RTTN	OMIM:614833
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8405	SPOP	OMIM:618828
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5293	PIK3CD	ORPHA:221139
HP:0008058	Aplasia/Hypoplasia of the optic nerve	90417	KNSTRN	ORPHA:221139
HP:0008058	Aplasia/Hypoplasia of the optic nerve	415	ARSL	ORPHA:79345
HP:0008058	Aplasia/Hypoplasia of the optic nerve	256297	PTF1A	OMIM:609069
HP:0008058	Aplasia/Hypoplasia of the optic nerve	256297	PTF1A	ORPHA:65288
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55593	OTUD5	OMIM:301056
HP:0008058	Aplasia/Hypoplasia of the optic nerve	3190	HNRNPK	ORPHA:453504
HP:0008058	Aplasia/Hypoplasia of the optic nerve	3190	HNRNPK	ORPHA:352665
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55210	ATAD3A	ORPHA:496790
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57459	GATAD2B	ORPHA:363686
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29925	GMPPB	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	79147	FKRP	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	79147	FKRP	OMIM:236670
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29954	POMT2	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29954	POMT2	OMIM:236670
HP:0008058	Aplasia/Hypoplasia of the optic nerve	84197	POMK	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55624	POMGNT1	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	10585	POMT1	ORPHA:370959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	10585	POMT1	OMIM:236670
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5605	MAP2K2	OMIM:615280
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8443	GNPAT	OMIM:222765
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2222	FDFT1	OMIM:618156
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29123	ANKRD11	ORPHA:261250
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8882	ZPR1	OMIM:619321
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55215	FANCI	OMIM:609053
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2893	GRIA4	OMIM:617864
HP:0008058	Aplasia/Hypoplasia of the optic nerve	10730	YME1L1	OMIM:617302
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5500	PPP1CB	OMIM:617506
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5080	PAX6	OMIM:165550
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5080	PAX6	ORPHA:137902
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5080	PAX6	OMIM:106210
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29072	SETD2	OMIM:620157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	29072	SETD2	OMIM:620155
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57688	ZSWIM6	OMIM:603671
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9215	LARGE1	OMIM:236670
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2218	FKTN	OMIM:236670
HP:0008058	Aplasia/Hypoplasia of the optic nerve	23499	MACF1	ORPHA:572013
HP:0008058	Aplasia/Hypoplasia of the optic nerve	387119	CEP85L	ORPHA:572013
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7846	TUBA1A	ORPHA:171680
HP:0008058	Aplasia/Hypoplasia of the optic nerve	4208	MEF2C	ORPHA:228384
HP:0008058	Aplasia/Hypoplasia of the optic nerve	4784	NFIX	OMIM:602535
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6651	SON	ORPHA:500150
HP:0008058	Aplasia/Hypoplasia of the optic nerve	51360	MBTPS2	ORPHA:85284
HP:0008058	Aplasia/Hypoplasia of the optic nerve	729920	CRPPA	OMIM:614643
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9968	MED12	ORPHA:93932
HP:0008058	Aplasia/Hypoplasia of the optic nerve	10381	TUBB3	ORPHA:300570
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9928	KIF14	OMIM:617914
HP:0008058	Aplasia/Hypoplasia of the optic nerve	1063	CENPF	OMIM:243605
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9401	RECQL4	OMIM:218600
HP:0008058	Aplasia/Hypoplasia of the optic nerve	148789	B3GALNT2	OMIM:615181
HP:0008058	Aplasia/Hypoplasia of the optic nerve	80173	IFT74	OMIM:619582
HP:0008058	Aplasia/Hypoplasia of the optic nerve	25930	PTPN23	OMIM:618890
HP:0008058	Aplasia/Hypoplasia of the optic nerve	132158	GLYCTK	OMIM:220120
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7545	ZIC1	OMIM:618736
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5518	PPP2R1A	ORPHA:457284
HP:0008058	Aplasia/Hypoplasia of the optic nerve	4990	SIX6	OMIM:206900
HP:0008058	Aplasia/Hypoplasia of the optic nerve	4747	NEFL	ORPHA:101085
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7490	WT1	OMIM:106210
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57167	SALL4	ORPHA:233
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57167	SALL4	ORPHA:959
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57167	SALL4	OMIM:607323
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9935	MAFB	ORPHA:233
HP:0008058	Aplasia/Hypoplasia of the optic nerve	1123	CHN1	ORPHA:233
HP:0008058	Aplasia/Hypoplasia of the optic nerve	3192	HNRNPU	ORPHA:238769
HP:0008058	Aplasia/Hypoplasia of the optic nerve	79644	SRD5A3	ORPHA:324737
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9342	SNAP29	OMIM:609528
HP:0008058	Aplasia/Hypoplasia of the optic nerve	324	APC	ORPHA:261584
HP:0008058	Aplasia/Hypoplasia of the optic nerve	54802	TRIT1	OMIM:617873
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2187	FANCB	OMIM:300514
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55770	EXOC2	OMIM:619306
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5361	PLXNA1	OMIM:619955
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9573	GDF3	OMIM:613703
HP:0008058	Aplasia/Hypoplasia of the optic nerve	392255	GDF6	OMIM:613703
HP:0008058	Aplasia/Hypoplasia of the optic nerve	11128	POLR3A	ORPHA:3455
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5631	PRPS1	ORPHA:423479
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5626	PROP1	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2736	GLI2	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	89884	LHX4	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	89884	LHX4	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	3170	FOXA2	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5449	POU1F1	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8820	HESX1	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8820	HESX1	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	8820	HESX1	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5015	OTX2	ORPHA:95494
HP:0008058	Aplasia/Hypoplasia of the optic nerve	5015	OTX2	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	10735	STAG2	OMIM:301043
HP:0008058	Aplasia/Hypoplasia of the optic nerve	128674	PROKR2	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	128674	PROKR2	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	55717	WDR11	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6091	ROBO1	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	50937	CDON	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	23432	GPR161	ORPHA:95496
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9578	CDC42BPB	OMIM:619841
HP:0008058	Aplasia/Hypoplasia of the optic nerve	2260	FGFR1	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6657	SOX2	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6658	SOX3	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	9915	ARNT2	ORPHA:3157
HP:0008058	Aplasia/Hypoplasia of the optic nerve	7473	WNT3	ORPHA:3301
HP:0008058	Aplasia/Hypoplasia of the optic nerve	340419	RSPO2	ORPHA:3301
HP:0008059	Aplasia/Hypoplasia of the macula	80781	COL18A1	OMIM:267750
HP:0008059	Aplasia/Hypoplasia of the macula	57724	EPG5	OMIM:242840
HP:0008059	Aplasia/Hypoplasia of the macula	10682	EBP	OMIM:300960
HP:0008059	Aplasia/Hypoplasia of the macula	79803	HPS6	OMIM:614075
HP:0008059	Aplasia/Hypoplasia of the macula	1806	DPYD	ORPHA:1675
HP:0008059	Aplasia/Hypoplasia of the macula	8777	MPDZ	OMIM:615219
HP:0008059	Aplasia/Hypoplasia of the macula	4094	MAF	OMIM:610202
HP:0008059	Aplasia/Hypoplasia of the macula	1130	LYST	OMIM:214500
HP:0008059	Aplasia/Hypoplasia of the macula	4693	NDP	ORPHA:91495
HP:0008059	Aplasia/Hypoplasia of the macula	220202	ATOH7	ORPHA:91495
HP:0008059	Aplasia/Hypoplasia of the macula	8322	FZD4	ORPHA:91495
HP:0008059	Aplasia/Hypoplasia of the macula	3166	HMX1	OMIM:612109
HP:0008059	Aplasia/Hypoplasia of the macula	3913	LAMB2	OMIM:609049
HP:0008059	Aplasia/Hypoplasia of the macula	63915	BLOC1S5	OMIM:619172
HP:0008059	Aplasia/Hypoplasia of the macula	22926	ATF6	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	22926	ATF6	OMIM:616517
HP:0008059	Aplasia/Hypoplasia of the macula	5146	PDE6C	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	6103	RPGR	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	5149	PDE6H	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	2780	GNAT2	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	1261	CNGA3	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	1261	CNGA3	OMIM:216900
HP:0008059	Aplasia/Hypoplasia of the macula	54714	CNGB3	ORPHA:49382
HP:0008059	Aplasia/Hypoplasia of the macula	778	CACNA1F	ORPHA:178333
HP:0008059	Aplasia/Hypoplasia of the macula	778	CACNA1F	OMIM:300600
HP:0008059	Aplasia/Hypoplasia of the macula	283652	SLC24A5	OMIM:113750
HP:0008059	Aplasia/Hypoplasia of the macula	57479	PRR12	OMIM:619539
HP:0008059	Aplasia/Hypoplasia of the macula	5080	PAX6	ORPHA:2334
HP:0008059	Aplasia/Hypoplasia of the macula	5080	PAX6	OMIM:136520
HP:0008059	Aplasia/Hypoplasia of the macula	5080	PAX6	OMIM:604229
HP:0008059	Aplasia/Hypoplasia of the macula	5080	PAX6	OMIM:106210
HP:0008059	Aplasia/Hypoplasia of the macula	7299	TYR	OMIM:203100
HP:0008059	Aplasia/Hypoplasia of the macula	7299	TYR	ORPHA:79431
HP:0008059	Aplasia/Hypoplasia of the macula	7299	TYR	ORPHA:79434
HP:0008059	Aplasia/Hypoplasia of the macula	4948	OCA2	OMIM:203200
HP:0008059	Aplasia/Hypoplasia of the macula	4948	OCA2	ORPHA:79432
HP:0008059	Aplasia/Hypoplasia of the macula	4157	MC1R	OMIM:203200
HP:0008059	Aplasia/Hypoplasia of the macula	4157	MC1R	ORPHA:79432
HP:0008059	Aplasia/Hypoplasia of the macula	7360	UGP2	OMIM:618744
HP:0008059	Aplasia/Hypoplasia of the macula	92154	MTSS2	OMIM:620086
HP:0008059	Aplasia/Hypoplasia of the macula	8943	AP3D1	ORPHA:54
HP:0008059	Aplasia/Hypoplasia of the macula	4935	GPR143	ORPHA:54
HP:0008059	Aplasia/Hypoplasia of the macula	4935	GPR143	OMIM:300500
HP:0008059	Aplasia/Hypoplasia of the macula	146167	SLC38A8	OMIM:609218
HP:0008059	Aplasia/Hypoplasia of the macula	89781	HPS4	OMIM:614073
HP:0008059	Aplasia/Hypoplasia of the macula	11234	HPS5	OMIM:614074
HP:0008059	Aplasia/Hypoplasia of the macula	388552	BLOC1S3	OMIM:614077
HP:0008059	Aplasia/Hypoplasia of the macula	1638	DCT	OMIM:619165
HP:0008059	Aplasia/Hypoplasia of the macula	157657	CFAP418	OMIM:617406
HP:0008059	Aplasia/Hypoplasia of the macula	9573	GDF3	OMIM:613703
HP:0008059	Aplasia/Hypoplasia of the macula	392255	GDF6	OMIM:613703
HP:0008059	Aplasia/Hypoplasia of the macula	8517	IKBKG	OMIM:308300
HP:0008059	Aplasia/Hypoplasia of the macula	7490	WT1	OMIM:106210
HP:0008059	Aplasia/Hypoplasia of the macula	60386	SLC25A19	OMIM:607196
HP:0008059	Aplasia/Hypoplasia of the macula	51151	SLC45A2	ORPHA:79435
HP:0008059	Aplasia/Hypoplasia of the macula	4758	NEU1	ORPHA:93400
HP:0008059	Aplasia/Hypoplasia of the macula	8842	PROM1	ORPHA:827
HP:0008059	Aplasia/Hypoplasia of the macula	5961	PRPH2	ORPHA:827
HP:0008059	Aplasia/Hypoplasia of the macula	6785	ELOVL4	ORPHA:827
HP:0008059	Aplasia/Hypoplasia of the macula	24	ABCA4	ORPHA:827
HP:0008059	Aplasia/Hypoplasia of the macula	4644	MYO5A	ORPHA:33445
HP:0008059	Aplasia/Hypoplasia of the macula	2296	FOXC1	ORPHA:250923
HP:0008059	Aplasia/Hypoplasia of the macula	54765	TRIM44	ORPHA:250923
HP:0008060	Aplasia/Hypoplasia of the fovea	63915	BLOC1S5	OMIM:619172
HP:0008060	Aplasia/Hypoplasia of the fovea	22926	ATF6	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	22926	ATF6	OMIM:616517
HP:0008060	Aplasia/Hypoplasia of the fovea	5146	PDE6C	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	6103	RPGR	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	5149	PDE6H	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	2780	GNAT2	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	1261	CNGA3	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	1261	CNGA3	OMIM:216900
HP:0008060	Aplasia/Hypoplasia of the fovea	54714	CNGB3	ORPHA:49382
HP:0008060	Aplasia/Hypoplasia of the fovea	778	CACNA1F	ORPHA:178333
HP:0008060	Aplasia/Hypoplasia of the fovea	778	CACNA1F	OMIM:300600
HP:0008060	Aplasia/Hypoplasia of the fovea	283652	SLC24A5	OMIM:113750
HP:0008060	Aplasia/Hypoplasia of the fovea	57479	PRR12	OMIM:619539
HP:0008060	Aplasia/Hypoplasia of the fovea	5080	PAX6	ORPHA:2334
HP:0008060	Aplasia/Hypoplasia of the fovea	5080	PAX6	OMIM:136520
HP:0008060	Aplasia/Hypoplasia of the fovea	5080	PAX6	OMIM:604229
HP:0008060	Aplasia/Hypoplasia of the fovea	5080	PAX6	OMIM:106210
HP:0008060	Aplasia/Hypoplasia of the fovea	7299	TYR	OMIM:203100
HP:0008060	Aplasia/Hypoplasia of the fovea	7299	TYR	ORPHA:79431
HP:0008060	Aplasia/Hypoplasia of the fovea	7299	TYR	ORPHA:79434
HP:0008060	Aplasia/Hypoplasia of the fovea	4948	OCA2	OMIM:203200
HP:0008060	Aplasia/Hypoplasia of the fovea	4948	OCA2	ORPHA:79432
HP:0008060	Aplasia/Hypoplasia of the fovea	4157	MC1R	OMIM:203200
HP:0008060	Aplasia/Hypoplasia of the fovea	4157	MC1R	ORPHA:79432
HP:0008060	Aplasia/Hypoplasia of the fovea	7360	UGP2	OMIM:618744
HP:0008060	Aplasia/Hypoplasia of the fovea	92154	MTSS2	OMIM:620086
HP:0008060	Aplasia/Hypoplasia of the fovea	8943	AP3D1	ORPHA:54
HP:0008060	Aplasia/Hypoplasia of the fovea	4935	GPR143	ORPHA:54
HP:0008060	Aplasia/Hypoplasia of the fovea	4935	GPR143	OMIM:300500
HP:0008060	Aplasia/Hypoplasia of the fovea	146167	SLC38A8	OMIM:609218
HP:0008060	Aplasia/Hypoplasia of the fovea	89781	HPS4	OMIM:614073
HP:0008060	Aplasia/Hypoplasia of the fovea	11234	HPS5	OMIM:614074
HP:0008060	Aplasia/Hypoplasia of the fovea	388552	BLOC1S3	OMIM:614077
HP:0008060	Aplasia/Hypoplasia of the fovea	1638	DCT	OMIM:619165
HP:0008060	Aplasia/Hypoplasia of the fovea	157657	CFAP418	OMIM:617406
HP:0008060	Aplasia/Hypoplasia of the fovea	9573	GDF3	OMIM:613703
HP:0008060	Aplasia/Hypoplasia of the fovea	392255	GDF6	OMIM:613703
HP:0008060	Aplasia/Hypoplasia of the fovea	8517	IKBKG	OMIM:308300
HP:0008060	Aplasia/Hypoplasia of the fovea	7490	WT1	OMIM:106210
HP:0008060	Aplasia/Hypoplasia of the fovea	60386	SLC25A19	OMIM:607196
HP:0008060	Aplasia/Hypoplasia of the fovea	51151	SLC45A2	ORPHA:79435
HP:0008060	Aplasia/Hypoplasia of the fovea	4758	NEU1	ORPHA:93400
HP:0008061	Aplasia/Hypoplasia of the retina	80781	COL18A1	OMIM:267750
HP:0008061	Aplasia/Hypoplasia of the retina	57724	EPG5	OMIM:242840
HP:0008061	Aplasia/Hypoplasia of the retina	10682	EBP	OMIM:300960
HP:0008061	Aplasia/Hypoplasia of the retina	79803	HPS6	OMIM:614075
HP:0008061	Aplasia/Hypoplasia of the retina	1806	DPYD	ORPHA:1675
HP:0008061	Aplasia/Hypoplasia of the retina	8777	MPDZ	OMIM:615219
HP:0008061	Aplasia/Hypoplasia of the retina	4094	MAF	OMIM:610202
HP:0008061	Aplasia/Hypoplasia of the retina	1130	LYST	OMIM:214500
HP:0008061	Aplasia/Hypoplasia of the retina	4693	NDP	ORPHA:91495
HP:0008061	Aplasia/Hypoplasia of the retina	220202	ATOH7	ORPHA:91495
HP:0008061	Aplasia/Hypoplasia of the retina	8322	FZD4	ORPHA:91495
HP:0008061	Aplasia/Hypoplasia of the retina	3166	HMX1	OMIM:612109
HP:0008061	Aplasia/Hypoplasia of the retina	3913	LAMB2	OMIM:609049
HP:0008061	Aplasia/Hypoplasia of the retina	63915	BLOC1S5	OMIM:619172
HP:0008061	Aplasia/Hypoplasia of the retina	22926	ATF6	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	22926	ATF6	OMIM:616517
HP:0008061	Aplasia/Hypoplasia of the retina	5146	PDE6C	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	6103	RPGR	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	5149	PDE6H	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	2780	GNAT2	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	1261	CNGA3	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	1261	CNGA3	OMIM:216900
HP:0008061	Aplasia/Hypoplasia of the retina	54714	CNGB3	ORPHA:49382
HP:0008061	Aplasia/Hypoplasia of the retina	778	CACNA1F	ORPHA:178333
HP:0008061	Aplasia/Hypoplasia of the retina	778	CACNA1F	OMIM:300600
HP:0008061	Aplasia/Hypoplasia of the retina	283652	SLC24A5	OMIM:113750
HP:0008061	Aplasia/Hypoplasia of the retina	57479	PRR12	OMIM:619539
HP:0008061	Aplasia/Hypoplasia of the retina	5080	PAX6	ORPHA:2334
HP:0008061	Aplasia/Hypoplasia of the retina	5080	PAX6	OMIM:136520
HP:0008061	Aplasia/Hypoplasia of the retina	5080	PAX6	OMIM:604229
HP:0008061	Aplasia/Hypoplasia of the retina	5080	PAX6	OMIM:106210
HP:0008061	Aplasia/Hypoplasia of the retina	7299	TYR	OMIM:203100
HP:0008061	Aplasia/Hypoplasia of the retina	7299	TYR	ORPHA:79431
HP:0008061	Aplasia/Hypoplasia of the retina	7299	TYR	ORPHA:79434
HP:0008061	Aplasia/Hypoplasia of the retina	4948	OCA2	OMIM:203200
HP:0008061	Aplasia/Hypoplasia of the retina	4948	OCA2	ORPHA:79432
HP:0008061	Aplasia/Hypoplasia of the retina	4157	MC1R	OMIM:203200
HP:0008061	Aplasia/Hypoplasia of the retina	4157	MC1R	ORPHA:79432
HP:0008061	Aplasia/Hypoplasia of the retina	7360	UGP2	OMIM:618744
HP:0008061	Aplasia/Hypoplasia of the retina	92154	MTSS2	OMIM:620086
HP:0008061	Aplasia/Hypoplasia of the retina	8943	AP3D1	ORPHA:54
HP:0008061	Aplasia/Hypoplasia of the retina	4935	GPR143	ORPHA:54
HP:0008061	Aplasia/Hypoplasia of the retina	4935	GPR143	OMIM:300500
HP:0008061	Aplasia/Hypoplasia of the retina	146167	SLC38A8	OMIM:609218
HP:0008061	Aplasia/Hypoplasia of the retina	89781	HPS4	OMIM:614073
HP:0008061	Aplasia/Hypoplasia of the retina	11234	HPS5	OMIM:614074
HP:0008061	Aplasia/Hypoplasia of the retina	388552	BLOC1S3	OMIM:614077
HP:0008061	Aplasia/Hypoplasia of the retina	1638	DCT	OMIM:619165
HP:0008061	Aplasia/Hypoplasia of the retina	157657	CFAP418	OMIM:617406
HP:0008061	Aplasia/Hypoplasia of the retina	9573	GDF3	OMIM:613703
HP:0008061	Aplasia/Hypoplasia of the retina	392255	GDF6	OMIM:613703
HP:0008061	Aplasia/Hypoplasia of the retina	8517	IKBKG	OMIM:308300
HP:0008061	Aplasia/Hypoplasia of the retina	7490	WT1	OMIM:106210
HP:0008061	Aplasia/Hypoplasia of the retina	60386	SLC25A19	OMIM:607196
HP:0008061	Aplasia/Hypoplasia of the retina	51151	SLC45A2	ORPHA:79435
HP:0008061	Aplasia/Hypoplasia of the retina	4758	NEU1	ORPHA:93400
HP:0008061	Aplasia/Hypoplasia of the retina	55624	POMGNT1	OMIM:253280
HP:0008061	Aplasia/Hypoplasia of the retina	8842	PROM1	ORPHA:827
HP:0008061	Aplasia/Hypoplasia of the retina	5961	PRPH2	ORPHA:827
HP:0008061	Aplasia/Hypoplasia of the retina	6785	ELOVL4	ORPHA:827
HP:0008061	Aplasia/Hypoplasia of the retina	24	ABCA4	ORPHA:827
HP:0008061	Aplasia/Hypoplasia of the retina	4644	MYO5A	ORPHA:33445
HP:0008061	Aplasia/Hypoplasia of the retina	2296	FOXC1	ORPHA:250923
HP:0008061	Aplasia/Hypoplasia of the retina	54765	TRIM44	ORPHA:250923
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	64840	PORCN	OMIM:305600
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	197257	LDHD	OMIM:245450
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	54765	TRIM44	ORPHA:250923
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	54765	TRIM44	OMIM:617142
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7428	VHL	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1743	DLST	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4191	MDH2	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5979	RET	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6389	SDHA	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	23095	KIF1B	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2271	FH	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	8402	SLC25A11	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	54949	SDHAF2	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55654	TMEM127	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4763	NF1	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6391	SDHC	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6392	SDHD	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6390	SDHB	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4149	MAX	ORPHA:29072
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3708	ITPR1	ORPHA:1065
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3708	ITPR1	OMIM:206700
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	26610	ELP4	OMIM:617141
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1750	DLX6	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7979	SEM1	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	8945	BTRC	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	8626	TP63	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	58513	EPS15L1	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6468	FBXW4	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7480	WNT10B	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1749	DLX5	ORPHA:2440
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5978	REST	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	129563	DIS3L2	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9319	TRIP13	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	10155	TRIM28	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	11281	POU6F2	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2719	GPC3	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	283120	H19	ORPHA:654
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	63901	FAM111A	OMIM:602361
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	92949	ADAMTSL1	ORPHA:521445
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5295	PIK3R1	OMIM:269880
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	53834	FGFRL1	OMIM:194190
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1487	CTBP1	OMIM:194190
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3954	LETM1	OMIM:194190
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7468	NSD2	OMIM:194190
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	10815	CPLX1	OMIM:194190
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3480	IGF1R	OMIM:270450
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3913	LAMB2	OMIM:609049
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9653	HS2ST1	OMIM:619194
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2074	ERCC6	OMIM:133540
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55733	HHAT	ORPHA:1422
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55733	HHAT	OMIM:600092
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6786	STIM1	OMIM:612783
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	406960	MIR184	OMIM:614303
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1282	COL4A1	OMIM:175780
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	84942	WDR73	OMIM:251300
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4036	LRP2	OMIM:222448
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	30813	VSX1	OMIM:614195
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2260	FGFR1	OMIM:613001
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6663	SOX10	OMIM:611584
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4519	MT-CYB	ORPHA:137675
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2301	FOXE3	ORPHA:83461
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2301	FOXE3	OMIM:610256
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4796	TONSL	ORPHA:93357
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57167	SALL4	ORPHA:233
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9935	MAFB	ORPHA:233
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1123	CHN1	ORPHA:233
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4286	MITF	OMIM:193510
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5077	PAX3	OMIM:193500
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5080	PAX6	ORPHA:893
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5080	PAX6	ORPHA:137902
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	627	BDNF	ORPHA:893
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7490	WT1	ORPHA:893
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5308	PITX2	ORPHA:782
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2296	FOXC1	ORPHA:782
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	84314	TMEM107	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	26123	TCTN3	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79867	TCTN2	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	80776	B9D2	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79600	TCTN1	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57096	RPGRIP1	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79848	CSPP1	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	80184	CEP290	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	51259	TMEM216	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57545	CC2D2A	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79583	TMEM231	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	91147	TMEM67	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79770	TXNDC15	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	27077	B9D1	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	23322	RPGRIP1L	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	54903	MKS1	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	65062	TMEM237	ORPHA:564
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	6804	STX1A	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7461	CLIP2	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	84277	DNAJC30	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	8468	FKBP6	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5982	RFC2	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2969	GTF2I	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3984	LIMK1	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9569	GTF2IRD1	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	155382	VPS37D	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	155368	METTL27	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	114049	BUD23	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7458	EIF4H	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	84163	GTF2IRD2	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9275	BCL7B	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	26608	TBL2	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	653361	NCF1	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	135886	TMEM270	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	51085	MLXIPL	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	9031	BAZ1B	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2006	ELN	ORPHA:904
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	672	BRCA1	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	10459	MAD2L2	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	7516	XRCC2	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	29089	UBE2T	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	675	BRCA2	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55120	FANCL	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2177	FANCD2	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2175	FANCA	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2187	FANCB	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2176	FANCC	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2178	FANCE	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2188	FANCF	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2189	FANCG	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5888	RAD51	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	5889	RAD51C	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55159	RFWD3	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	83990	BRIP1	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57697	FANCM	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	79728	PALB2	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	84464	SLX4	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2072	ERCC4	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	55215	FANCI	ORPHA:84
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1280	COL2A1	ORPHA:485
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	64132	XYLT2	ORPHA:85194
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4693	NDP	ORPHA:649
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4010	LMX1B	OMIM:161200
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	27151	CPAMD8	OMIM:617319
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	3166	HMX1	OMIM:612109
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2200	FBN1	OMIM:608328
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2200	FBN1	OMIM:154700
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4053	LTBP2	OMIM:614819
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	4053	LTBP2	OMIM:251750
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	81794	ADAMTS10	OMIM:277600
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57479	PRR12	OMIM:619539
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	23291	FBXW11	OMIM:618914
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2248	FGF3	ORPHA:2791
HP:0008063	Aplasia/Hypoplasia of the lens	4519	MT-CYB	ORPHA:137675
HP:0008063	Aplasia/Hypoplasia of the lens	2301	FOXE3	ORPHA:83461
HP:0008063	Aplasia/Hypoplasia of the lens	2301	FOXE3	OMIM:610256
HP:0008063	Aplasia/Hypoplasia of the lens	4796	TONSL	ORPHA:93357
HP:0008063	Aplasia/Hypoplasia of the lens	1280	COL2A1	ORPHA:485
HP:0008063	Aplasia/Hypoplasia of the lens	64132	XYLT2	ORPHA:85194
HP:0008063	Aplasia/Hypoplasia of the lens	4693	NDP	ORPHA:649
HP:0008063	Aplasia/Hypoplasia of the lens	4010	LMX1B	OMIM:161200
HP:0008063	Aplasia/Hypoplasia of the lens	27151	CPAMD8	OMIM:617319
HP:0008063	Aplasia/Hypoplasia of the lens	3166	HMX1	OMIM:612109
HP:0008063	Aplasia/Hypoplasia of the lens	2200	FBN1	OMIM:608328
HP:0008063	Aplasia/Hypoplasia of the lens	2200	FBN1	OMIM:154700
HP:0008063	Aplasia/Hypoplasia of the lens	4053	LTBP2	OMIM:614819
HP:0008063	Aplasia/Hypoplasia of the lens	4053	LTBP2	OMIM:251750
HP:0008063	Aplasia/Hypoplasia of the lens	81794	ADAMTS10	OMIM:277600
HP:0008063	Aplasia/Hypoplasia of the lens	57479	PRR12	OMIM:619539
HP:0008063	Aplasia/Hypoplasia of the lens	23291	FBXW11	OMIM:618914
HP:0008063	Aplasia/Hypoplasia of the lens	2248	FGF3	ORPHA:2791
HP:0008065	Aplasia/Hypoplasia of the skin	23394	ADNP	OMIM:615873
HP:0008065	Aplasia/Hypoplasia of the skin	89910	UBE3B	OMIM:244450
HP:0008065	Aplasia/Hypoplasia of the skin	5831	PYCR1	OMIM:614438
HP:0008065	Aplasia/Hypoplasia of the skin	5831	PYCR1	ORPHA:2078
HP:0008065	Aplasia/Hypoplasia of the skin	3849	KRT2	ORPHA:455
HP:0008065	Aplasia/Hypoplasia of the skin	2332	FMR1	ORPHA:449291
HP:0008065	Aplasia/Hypoplasia of the skin	4998	ORC1	OMIM:224690
HP:0008065	Aplasia/Hypoplasia of the skin	10616	RBCK1	OMIM:615895
HP:0008065	Aplasia/Hypoplasia of the skin	1147	CHUK	OMIM:613630
HP:0008065	Aplasia/Hypoplasia of the skin	9719	ADAMTSL2	ORPHA:1901
HP:0008065	Aplasia/Hypoplasia of the skin	857	CAV1	OMIM:606721
HP:0008065	Aplasia/Hypoplasia of the skin	4784	NFIX	ORPHA:561
HP:0008065	Aplasia/Hypoplasia of the skin	3977	LIFR	OMIM:601559
HP:0008065	Aplasia/Hypoplasia of the skin	4507	MTAP	OMIM:112250
HP:0008065	Aplasia/Hypoplasia of the skin	25	ABL1	OMIM:617602
HP:0008065	Aplasia/Hypoplasia of the skin	23314	SATB2	OMIM:612313
HP:0008065	Aplasia/Hypoplasia of the skin	375	ARF1	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	4131	MAP1B	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	2316	FLNA	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	2316	FLNA	ORPHA:75497
HP:0008065	Aplasia/Hypoplasia of the skin	23327	NEDD4L	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	160418	TMTC3	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	10564	ARFGEF2	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	55780	ERMARD	ORPHA:98892
HP:0008065	Aplasia/Hypoplasia of the skin	80326	WNT10A	OMIM:150400
HP:0008065	Aplasia/Hypoplasia of the skin	81031	SLC2A10	ORPHA:3342
HP:0008065	Aplasia/Hypoplasia of the skin	81031	SLC2A10	OMIM:208050
HP:0008065	Aplasia/Hypoplasia of the skin	11128	POLR3A	OMIM:264090
HP:0008065	Aplasia/Hypoplasia of the skin	11128	POLR3A	ORPHA:3455
HP:0008065	Aplasia/Hypoplasia of the skin	5500	PPP1CB	OMIM:617506
HP:0008065	Aplasia/Hypoplasia of the skin	5832	ALDH18A1	OMIM:219150
HP:0008065	Aplasia/Hypoplasia of the skin	5295	PIK3R1	OMIM:269880
HP:0008065	Aplasia/Hypoplasia of the skin	92344	GORAB	ORPHA:2078
HP:0008065	Aplasia/Hypoplasia of the skin	9742	IFT140	OMIM:266920
HP:0008065	Aplasia/Hypoplasia of the skin	4921	DDR2	OMIM:618175
HP:0008065	Aplasia/Hypoplasia of the skin	5587	PRKD1	OMIM:617364
HP:0008065	Aplasia/Hypoplasia of the skin	22907	DHX30	OMIM:617804
HP:0008065	Aplasia/Hypoplasia of the skin	7189	TRAF6	ORPHA:1810
HP:0008065	Aplasia/Hypoplasia of the skin	128178	EDARADD	ORPHA:1810
HP:0008065	Aplasia/Hypoplasia of the skin	126695	KDF1	ORPHA:1810
HP:0008065	Aplasia/Hypoplasia of the skin	10913	EDAR	ORPHA:1810
HP:0008065	Aplasia/Hypoplasia of the skin	285203	EOGT	OMIM:615297
HP:0008065	Aplasia/Hypoplasia of the skin	285203	EOGT	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	3691	ITGB4	ORPHA:158684
HP:0008065	Aplasia/Hypoplasia of the skin	3691	ITGB4	ORPHA:79402
HP:0008065	Aplasia/Hypoplasia of the skin	3691	ITGB4	ORPHA:79403
HP:0008065	Aplasia/Hypoplasia of the skin	3691	ITGB4	ORPHA:251393
HP:0008065	Aplasia/Hypoplasia of the skin	4851	NOTCH1	OMIM:616028
HP:0008065	Aplasia/Hypoplasia of the skin	4851	NOTCH1	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	3909	LAMA3	ORPHA:79402
HP:0008065	Aplasia/Hypoplasia of the skin	3909	LAMA3	ORPHA:79404
HP:0008065	Aplasia/Hypoplasia of the skin	1308	COL17A1	ORPHA:79402
HP:0008065	Aplasia/Hypoplasia of the skin	1308	COL17A1	ORPHA:251393
HP:0008065	Aplasia/Hypoplasia of the skin	3918	LAMC2	ORPHA:79402
HP:0008065	Aplasia/Hypoplasia of the skin	3918	LAMC2	ORPHA:79404
HP:0008065	Aplasia/Hypoplasia of the skin	3914	LAMB3	ORPHA:79402
HP:0008065	Aplasia/Hypoplasia of the skin	3914	LAMB3	ORPHA:79404
HP:0008065	Aplasia/Hypoplasia of the skin	3655	ITGA6	ORPHA:79403
HP:0008065	Aplasia/Hypoplasia of the skin	284252	KCTD1	OMIM:181270
HP:0008065	Aplasia/Hypoplasia of the skin	4312	MMP1	ORPHA:79408
HP:0008065	Aplasia/Hypoplasia of the skin	1832	DSP	OMIM:609638
HP:0008065	Aplasia/Hypoplasia of the skin	3845	KRAS	OMIM:600268
HP:0008065	Aplasia/Hypoplasia of the skin	6872	TAF1	OMIM:300966
HP:0008065	Aplasia/Hypoplasia of the skin	3313	HSPA9	OMIM:616854
HP:0008065	Aplasia/Hypoplasia of the skin	3852	KRT5	ORPHA:79396
HP:0008065	Aplasia/Hypoplasia of the skin	3861	KRT14	ORPHA:79396
HP:0008065	Aplasia/Hypoplasia of the skin	57572	DOCK6	OMIM:614219
HP:0008065	Aplasia/Hypoplasia of the skin	57572	DOCK6	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	3516	RBPJ	OMIM:614814
HP:0008065	Aplasia/Hypoplasia of the skin	3516	RBPJ	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	57514	ARHGAP31	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	54567	DLL4	ORPHA:974
HP:0008065	Aplasia/Hypoplasia of the skin	526	ATP6V1B2	ORPHA:79499
HP:0008065	Aplasia/Hypoplasia of the skin	4088	SMAD3	ORPHA:284984
HP:0008065	Aplasia/Hypoplasia of the skin	4088	SMAD3	OMIM:613795
HP:0008065	Aplasia/Hypoplasia of the skin	8450	CUL4B	OMIM:300354
HP:0008065	Aplasia/Hypoplasia of the skin	84196	USP48	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	7157	TP53	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	7157	TP53	ORPHA:1501
HP:0008065	Aplasia/Hypoplasia of the skin	9101	USP8	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	9101	USP8	OMIM:219090
HP:0008065	Aplasia/Hypoplasia of the skin	64072	CDH23	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	2908	NR3C1	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	673	BRAF	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	546	ATRX	ORPHA:96253
HP:0008065	Aplasia/Hypoplasia of the skin	23013	SPEN	OMIM:619312
HP:0008065	Aplasia/Hypoplasia of the skin	2200	FBN1	OMIM:154700
HP:0008065	Aplasia/Hypoplasia of the skin	2200	FBN1	OMIM:608328
HP:0008065	Aplasia/Hypoplasia of the skin	2200	FBN1	OMIM:604308
HP:0008065	Aplasia/Hypoplasia of the skin	1315	COPB1	OMIM:619255
HP:0008065	Aplasia/Hypoplasia of the skin	5566	PRKACA	ORPHA:189439
HP:0008065	Aplasia/Hypoplasia of the skin	8622	PDE8B	ORPHA:189439
HP:0008065	Aplasia/Hypoplasia of the skin	5573	PRKAR1A	ORPHA:189439
HP:0008065	Aplasia/Hypoplasia of the skin	5573	PRKAR1A	OMIM:610489
HP:0008065	Aplasia/Hypoplasia of the skin	5573	PRKAR1A	ORPHA:1501
HP:0008065	Aplasia/Hypoplasia of the skin	5573	PRKAR1A	ORPHA:1359
HP:0008065	Aplasia/Hypoplasia of the skin	50940	PDE11A	ORPHA:189439
HP:0008065	Aplasia/Hypoplasia of the skin	50940	PDE11A	OMIM:610475
HP:0008065	Aplasia/Hypoplasia of the skin	50940	PDE11A	ORPHA:1359
HP:0008065	Aplasia/Hypoplasia of the skin	4087	SMAD2	OMIM:619656
HP:0008065	Aplasia/Hypoplasia of the skin	2778	GNAS	OMIM:219080
HP:0008065	Aplasia/Hypoplasia of the skin	2778	GNAS	ORPHA:189427
HP:0008065	Aplasia/Hypoplasia of the skin	7048	TGFBR2	OMIM:610168
HP:0008065	Aplasia/Hypoplasia of the skin	7048	TGFBR2	ORPHA:60030
HP:0008065	Aplasia/Hypoplasia of the skin	84133	ZNRF3	ORPHA:1501
HP:0008065	Aplasia/Hypoplasia of the skin	1499	CTNNB1	ORPHA:1501
HP:0008065	Aplasia/Hypoplasia of the skin	1029	CDKN2A	ORPHA:1501
HP:0008065	Aplasia/Hypoplasia of the skin	7148	TNXB	OMIM:606408
HP:0008065	Aplasia/Hypoplasia of the skin	633	BGN	OMIM:300989
HP:0008065	Aplasia/Hypoplasia of the skin	4015	LOX	OMIM:617168
HP:0008065	Aplasia/Hypoplasia of the skin	1742	DLG4	OMIM:618793
HP:0008065	Aplasia/Hypoplasia of the skin	7046	TGFBR1	ORPHA:60030
HP:0008065	Aplasia/Hypoplasia of the skin	10526	IPO8	ORPHA:60030
HP:0008065	Aplasia/Hypoplasia of the skin	79798	ARMC5	ORPHA:189427
HP:0008065	Aplasia/Hypoplasia of the skin	9049	AIP	OMIM:219090
HP:0008065	Aplasia/Hypoplasia of the skin	5167	ENPP1	ORPHA:758
HP:0008065	Aplasia/Hypoplasia of the skin	368	ABCC6	ORPHA:758
HP:0008065	Aplasia/Hypoplasia of the skin	7042	TGFB2	OMIM:614816
HP:0008065	Aplasia/Hypoplasia of the skin	1281	COL3A1	OMIM:130050
HP:0008065	Aplasia/Hypoplasia of the skin	1281	COL3A1	ORPHA:286
HP:0008065	Aplasia/Hypoplasia of the skin	1277	COL1A1	ORPHA:287
HP:0008065	Aplasia/Hypoplasia of the skin	1289	COL5A1	ORPHA:287
HP:0008065	Aplasia/Hypoplasia of the skin	1289	COL5A1	OMIM:130000
HP:0008065	Aplasia/Hypoplasia of the skin	1290	COL5A2	ORPHA:287
HP:0008065	Aplasia/Hypoplasia of the skin	1290	COL5A2	OMIM:130010
HP:0008065	Aplasia/Hypoplasia of the skin	1303	COL12A1	ORPHA:610
HP:0008065	Aplasia/Hypoplasia of the skin	1291	COL6A1	ORPHA:610
HP:0008065	Aplasia/Hypoplasia of the skin	1292	COL6A2	ORPHA:610
HP:0008065	Aplasia/Hypoplasia of the skin	1293	COL6A3	ORPHA:610
HP:0008065	Aplasia/Hypoplasia of the skin	1075	CTSC	ORPHA:678
HP:0008065	Aplasia/Hypoplasia of the skin	91252	SLC39A13	OMIM:612350
HP:0008065	Aplasia/Hypoplasia of the skin	11285	B4GALT7	ORPHA:75496
HP:0008065	Aplasia/Hypoplasia of the skin	11285	B4GALT7	OMIM:130070
HP:0008065	Aplasia/Hypoplasia of the skin	1278	COL1A2	OMIM:225320
HP:0008065	Aplasia/Hypoplasia of the skin	1278	COL1A2	ORPHA:230851
HP:0008065	Aplasia/Hypoplasia of the skin	1278	COL1A2	OMIM:617821
HP:0008065	Aplasia/Hypoplasia of the skin	4035	LRP1	ORPHA:79100
HP:0008065	Aplasia/Hypoplasia of the skin	113189	CHST14	OMIM:601776
HP:0008065	Aplasia/Hypoplasia of the skin	113189	CHST14	ORPHA:2953
HP:0008065	Aplasia/Hypoplasia of the skin	715	C1R	OMIM:130080
HP:0008065	Aplasia/Hypoplasia of the skin	715	C1R	ORPHA:75392
HP:0008065	Aplasia/Hypoplasia of the skin	55033	FKBP14	OMIM:614557
HP:0008065	Aplasia/Hypoplasia of the skin	55033	FKBP14	ORPHA:300179
HP:0008065	Aplasia/Hypoplasia of the skin	51816	ADA2	OMIM:182410
HP:0008065	Aplasia/Hypoplasia of the skin	126792	B3GALT6	ORPHA:536467
HP:0008065	Aplasia/Hypoplasia of the skin	126792	B3GALT6	OMIM:615349
HP:0008065	Aplasia/Hypoplasia of the skin	716	C1S	ORPHA:75392
HP:0008065	Aplasia/Hypoplasia of the skin	165	AEBP1	OMIM:618000
HP:0008065	Aplasia/Hypoplasia of the skin	29940	DSE	ORPHA:2953
HP:0008065	Aplasia/Hypoplasia of the skin	29940	DSE	OMIM:615539
HP:0008065	Aplasia/Hypoplasia of the skin	5351	PLOD1	ORPHA:1900
HP:0008065	Aplasia/Hypoplasia of the skin	9509	ADAMTS2	OMIM:225410
HP:0008065	Aplasia/Hypoplasia of the skin	146206	CARMIL2	OMIM:618131
HP:0008065	Aplasia/Hypoplasia of the skin	667	DST	OMIM:615425
HP:0008065	Aplasia/Hypoplasia of the skin	2074	ERCC6	OMIM:133540
HP:0008065	Aplasia/Hypoplasia of the skin	2074	ERCC6	OMIM:278800
HP:0008065	Aplasia/Hypoplasia of the skin	64840	PORCN	OMIM:305600
HP:0008065	Aplasia/Hypoplasia of the skin	64840	PORCN	ORPHA:2092
HP:0008065	Aplasia/Hypoplasia of the skin	10269	ZMPSTE24	OMIM:608612
HP:0008065	Aplasia/Hypoplasia of the skin	10269	ZMPSTE24	ORPHA:740
HP:0008065	Aplasia/Hypoplasia of the skin	10269	ZMPSTE24	ORPHA:90154
HP:0008065	Aplasia/Hypoplasia of the skin	10269	ZMPSTE24	ORPHA:1662
HP:0008065	Aplasia/Hypoplasia of the skin	54800	KLHL24	OMIM:617294
HP:0008065	Aplasia/Hypoplasia of the skin	1643	DDB2	OMIM:278740
HP:0008065	Aplasia/Hypoplasia of the skin	1643	DDB2	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	9401	RECQL4	ORPHA:221016
HP:0008065	Aplasia/Hypoplasia of the skin	9401	RECQL4	OMIM:268400
HP:0008065	Aplasia/Hypoplasia of the skin	9401	RECQL4	OMIM:218600
HP:0008065	Aplasia/Hypoplasia of the skin	117581	TWIST2	OMIM:209885
HP:0008065	Aplasia/Hypoplasia of the skin	1736	DKC1	OMIM:305000
HP:0008065	Aplasia/Hypoplasia of the skin	1736	DKC1	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	7507	XPA	OMIM:278700
HP:0008065	Aplasia/Hypoplasia of the skin	7507	XPA	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	79650	USB1	OMIM:604173
HP:0008065	Aplasia/Hypoplasia of the skin	4000	LMNA	ORPHA:740
HP:0008065	Aplasia/Hypoplasia of the skin	4000	LMNA	OMIM:248370
HP:0008065	Aplasia/Hypoplasia of the skin	4000	LMNA	ORPHA:90153
HP:0008065	Aplasia/Hypoplasia of the skin	4000	LMNA	ORPHA:1662
HP:0008065	Aplasia/Hypoplasia of the skin	1718	DHCR24	ORPHA:35107
HP:0008065	Aplasia/Hypoplasia of the skin	5159	PDGFRB	OMIM:601812
HP:0008065	Aplasia/Hypoplasia of the skin	4256	MGP	ORPHA:85202
HP:0008065	Aplasia/Hypoplasia of the skin	1294	COL7A1	ORPHA:158673
HP:0008065	Aplasia/Hypoplasia of the skin	1294	COL7A1	ORPHA:89843
HP:0008065	Aplasia/Hypoplasia of the skin	54345	SOX18	ORPHA:69735
HP:0008065	Aplasia/Hypoplasia of the skin	5429	POLH	OMIM:278750
HP:0008065	Aplasia/Hypoplasia of the skin	5429	POLH	ORPHA:90342
HP:0008065	Aplasia/Hypoplasia of the skin	2068	ERCC2	ORPHA:220295
HP:0008065	Aplasia/Hypoplasia of the skin	2068	ERCC2	OMIM:278730
HP:0008065	Aplasia/Hypoplasia of the skin	2068	ERCC2	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	2073	ERCC5	ORPHA:220295
HP:0008065	Aplasia/Hypoplasia of the skin	2073	ERCC5	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	2072	ERCC4	ORPHA:220295
HP:0008065	Aplasia/Hypoplasia of the skin	2072	ERCC4	OMIM:610965
HP:0008065	Aplasia/Hypoplasia of the skin	2072	ERCC4	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	2071	ERCC3	ORPHA:220295
HP:0008065	Aplasia/Hypoplasia of the skin	2071	ERCC3	OMIM:610651
HP:0008065	Aplasia/Hypoplasia of the skin	2071	ERCC3	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	55612	FERMT1	OMIM:173650
HP:0008065	Aplasia/Hypoplasia of the skin	26277	TINF2	OMIM:127550
HP:0008065	Aplasia/Hypoplasia of the skin	26277	TINF2	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	7012	TERC	OMIM:127550
HP:0008065	Aplasia/Hypoplasia of the skin	7015	TERT	OMIM:127550
HP:0008065	Aplasia/Hypoplasia of the skin	7015	TERT	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	8626	TP63	OMIM:103285
HP:0008065	Aplasia/Hypoplasia of the skin	10651	MTX2	ORPHA:90153
HP:0008065	Aplasia/Hypoplasia of the skin	5339	PLEC	ORPHA:257
HP:0008065	Aplasia/Hypoplasia of the skin	51750	RTEL1	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	65057	ACD	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	5073	PARN	ORPHA:3322
HP:0008065	Aplasia/Hypoplasia of the skin	7508	XPC	OMIM:278720
HP:0008065	Aplasia/Hypoplasia of the skin	7508	XPC	ORPHA:910
HP:0008065	Aplasia/Hypoplasia of the skin	54539	NDUFB11	ORPHA:2556
HP:0008065	Aplasia/Hypoplasia of the skin	1349	COX7B	ORPHA:2556
HP:0008065	Aplasia/Hypoplasia of the skin	3052	HCCS	ORPHA:2556
HP:0008065	Aplasia/Hypoplasia of the skin	7020	TFAP2A	OMIM:113620
HP:0008065	Aplasia/Hypoplasia of the skin	5424	POLD1	OMIM:615381
HP:0008065	Aplasia/Hypoplasia of the skin	64682	ANAPC1	ORPHA:221008
HP:0008065	Aplasia/Hypoplasia of the skin	9790	BMS1	ORPHA:1114
HP:0008065	Aplasia/Hypoplasia of the skin	9790	BMS1	OMIM:107600
HP:0008065	Aplasia/Hypoplasia of the skin	10054	UBA2	ORPHA:1114
HP:0008065	Aplasia/Hypoplasia of the skin	55784	MCTP2	ORPHA:1596
HP:0008065	Aplasia/Hypoplasia of the skin	999	CDH1	OMIM:119580
HP:0008065	Aplasia/Hypoplasia of the skin	79796	ALG9	ORPHA:79328
HP:0008065	Aplasia/Hypoplasia of the skin	197131	UBR1	OMIM:243800
HP:0008065	Aplasia/Hypoplasia of the skin	10815	CPLX1	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	10815	CPLX1	OMIM:194190
HP:0008065	Aplasia/Hypoplasia of the skin	54872	PIGG	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	7469	NELFA	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	1487	CTBP1	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	1487	CTBP1	OMIM:194190
HP:0008065	Aplasia/Hypoplasia of the skin	3954	LETM1	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	3954	LETM1	OMIM:194190
HP:0008065	Aplasia/Hypoplasia of the skin	7468	NSD2	ORPHA:280
HP:0008065	Aplasia/Hypoplasia of the skin	7468	NSD2	OMIM:194190
HP:0008065	Aplasia/Hypoplasia of the skin	4488	MSX2	ORPHA:60015
HP:0008065	Aplasia/Hypoplasia of the skin	4488	MSX2	OMIM:168500
HP:0008065	Aplasia/Hypoplasia of the skin	60529	ALX4	ORPHA:60015
HP:0008065	Aplasia/Hypoplasia of the skin	60529	ALX4	OMIM:609597
HP:0008065	Aplasia/Hypoplasia of the skin	53834	FGFRL1	OMIM:194190
HP:0008065	Aplasia/Hypoplasia of the skin	1896	EDA	OMIM:305100
HP:0008065	Aplasia/Hypoplasia of the skin	2934	GSN	ORPHA:85448
HP:0008065	Aplasia/Hypoplasia of the skin	23592	LEMD3	ORPHA:1306
HP:0008065	Aplasia/Hypoplasia of the skin	9791	PTDSS1	ORPHA:2658
HP:0008065	Aplasia/Hypoplasia of the skin	5468	PPARG	ORPHA:79083
HP:0008065	Aplasia/Hypoplasia of the skin	10312	TCIRG1	ORPHA:1782
HP:0008065	Aplasia/Hypoplasia of the skin	55315	SLC29A3	ORPHA:1782
HP:0008065	Aplasia/Hypoplasia of the skin	8792	TNFRSF11A	ORPHA:1782
HP:0008065	Aplasia/Hypoplasia of the skin	4621	MYH3	ORPHA:2990
HP:0008065	Aplasia/Hypoplasia of the skin	1146	CHRNG	ORPHA:2990
HP:0008065	Aplasia/Hypoplasia of the skin	7486	WRN	ORPHA:902
HP:0008065	Aplasia/Hypoplasia of the skin	5627	PROS1	ORPHA:743
HP:0008065	Aplasia/Hypoplasia of the skin	5184	PEPD	ORPHA:742
HP:0008065	Aplasia/Hypoplasia of the skin	5624	PROC	ORPHA:745
HP:0008065	Aplasia/Hypoplasia of the skin	472	ATM	ORPHA:100
HP:0008065	Aplasia/Hypoplasia of the skin	56916	SMARCAD1	ORPHA:384
HP:0008065	Aplasia/Hypoplasia of the skin	80169	CTC1	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	55651	NHP2	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	55135	WRAP53	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	4869	NPM1	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	55505	NOP10	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	7298	TYMS	ORPHA:1775
HP:0008065	Aplasia/Hypoplasia of the skin	118429	ANTXR2	ORPHA:2028
HP:0008065	Aplasia/Hypoplasia of the skin	6608	SMO	ORPHA:1553
HP:0008065	Aplasia/Hypoplasia of the skin	10654	PMVK	ORPHA:735
HP:0008065	Aplasia/Hypoplasia of the skin	4598	MVK	ORPHA:735
HP:0008065	Aplasia/Hypoplasia of the skin	2767	GNA11	ORPHA:1556
HP:0008065	Aplasia/Hypoplasia of the skin	151188	ARL6IP6	ORPHA:1556
HP:0008066	Abnormal blistering of the skin	3914	LAMB3	OMIM:226700
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:226700
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:619785
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:619786
HP:0008066	Abnormal blistering of the skin	5339	PLEC	OMIM:226730
HP:0008066	Abnormal blistering of the skin	5339	PLEC	ORPHA:158684
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	OMIM:226730
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	ORPHA:158684
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	OMIM:619816
HP:0008066	Abnormal blistering of the skin	1308	COL17A1	OMIM:619787
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:158681
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79397
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79399
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79400
HP:0008066	Abnormal blistering of the skin	3655	ITGA6	OMIM:619817
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79397
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79399
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79400
HP:0008066	Abnormal blistering of the skin	3872	KRT17	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	3853	KRT6A	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	3854	KRT6B	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	1828	DSG1	OMIM:148700
HP:0008066	Abnormal blistering of the skin	3858	KRT10	ORPHA:312
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:607602
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:146600
HP:0008066	Abnormal blistering of the skin	3848	KRT1	ORPHA:312
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:620148
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:113800
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:146590
HP:0008066	Abnormal blistering of the skin	3848	KRT1	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	171023	ASXL1	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	54790	TET2	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	867	CBL	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	861	RUNX1	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	6427	SRSF2	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:280785
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:280794
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:79455
HP:0008066	Abnormal blistering of the skin	64682	ANAPC1	OMIM:618625
HP:0008066	Abnormal blistering of the skin	64682	ANAPC1	ORPHA:221008
HP:0008066	Abnormal blistering of the skin	3119	HLA-DQB1	ORPHA:703
HP:0008066	Abnormal blistering of the skin	3123	HLA-DRB1	ORPHA:703
HP:0008066	Abnormal blistering of the skin	10312	TCIRG1	ORPHA:667
HP:0008066	Abnormal blistering of the skin	1186	CLCN7	ORPHA:667
HP:0008066	Abnormal blistering of the skin	29887	SNX10	ORPHA:667
HP:0008066	Abnormal blistering of the skin	8600	TNFSF11	ORPHA:667
HP:0008066	Abnormal blistering of the skin	362	AQP5	ORPHA:2337
HP:0008066	Abnormal blistering of the skin	55630	SLC39A4	ORPHA:37
HP:0008066	Abnormal blistering of the skin	3728	JUP	OMIM:601214
HP:0008066	Abnormal blistering of the skin	831	CAST	OMIM:616295
HP:0008066	Abnormal blistering of the skin	1825	DSC3	OMIM:613102
HP:0008066	Abnormal blistering of the skin	3849	KRT2	ORPHA:455
HP:0008066	Abnormal blistering of the skin	3106	HLA-B	ORPHA:36426
HP:0008066	Abnormal blistering of the skin	3106	HLA-B	ORPHA:117
HP:0008066	Abnormal blistering of the skin	10320	IKZF1	ORPHA:36426
HP:0008066	Abnormal blistering of the skin	340665	CYP26C1	ORPHA:398189
HP:0008066	Abnormal blistering of the skin	4210	MEFV	ORPHA:3243
HP:0008066	Abnormal blistering of the skin	4210	MEFV	ORPHA:117
HP:0008066	Abnormal blistering of the skin	7389	UROD	ORPHA:95159
HP:0008066	Abnormal blistering of the skin	673	BRAF	ORPHA:840
HP:0008066	Abnormal blistering of the skin	7286	TUFT1	OMIM:607655
HP:0008066	Abnormal blistering of the skin	23086	EXPH5	OMIM:615028
HP:0008066	Abnormal blistering of the skin	667	DST	OMIM:615425
HP:0008066	Abnormal blistering of the skin	5498	PPOX	ORPHA:79473
HP:0008066	Abnormal blistering of the skin	2697	GJA1	ORPHA:317
HP:0008066	Abnormal blistering of the skin	2707	GJB3	ORPHA:317
HP:0008066	Abnormal blistering of the skin	2531	KDSR	ORPHA:317
HP:0008066	Abnormal blistering of the skin	127534	GJB4	ORPHA:317
HP:0008066	Abnormal blistering of the skin	9333	TGM5	OMIM:609796
HP:0008066	Abnormal blistering of the skin	9333	TGM5	ORPHA:263534
HP:0008066	Abnormal blistering of the skin	5317	PKP1	OMIM:604536
HP:0008066	Abnormal blistering of the skin	5317	PKP1	ORPHA:158668
HP:0008066	Abnormal blistering of the skin	54800	KLHL24	OMIM:617294
HP:0008066	Abnormal blistering of the skin	9401	RECQL4	ORPHA:221016
HP:0008066	Abnormal blistering of the skin	5590	PRKCZ	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	2563	GABRD	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	23013	SPEN	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	8510	MMP23B	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	7798	LUZP1	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	6497	SKI	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	10630	PDPN	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	3339	HSPG2	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	10277	UBE4B	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	8514	KCNAB2	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	473	RERE	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	63976	PRDM16	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	54897	CASZ1	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	3675	ITGA3	OMIM:614748
HP:0008066	Abnormal blistering of the skin	8517	IKBKG	ORPHA:464
HP:0008066	Abnormal blistering of the skin	8517	IKBKG	OMIM:308300
HP:0008066	Abnormal blistering of the skin	1893	ECM1	ORPHA:530
HP:0008066	Abnormal blistering of the skin	1893	ECM1	OMIM:247100
HP:0008066	Abnormal blistering of the skin	55739	NAXD	OMIM:618321
HP:0008066	Abnormal blistering of the skin	340024	SLC6A19	ORPHA:2116
HP:0008066	Abnormal blistering of the skin	57393	CLTRN	ORPHA:2116
HP:0008066	Abnormal blistering of the skin	50943	FOXP3	ORPHA:37042
HP:0008066	Abnormal blistering of the skin	3868	KRT16	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	3857	KRT9	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	641	BLM	ORPHA:125
HP:0008066	Abnormal blistering of the skin	1475	CSTA	ORPHA:263534
HP:0008066	Abnormal blistering of the skin	1832	DSP	OMIM:609638
HP:0008066	Abnormal blistering of the skin	80169	CTC1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	26277	TINF2	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55651	NHP2	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	79650	USB1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55135	WRAP53	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	51750	RTEL1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	4869	NPM1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7012	TERC	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55505	NOP10	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	5073	PARN	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7015	TERT	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	1736	DKC1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7298	TYMS	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	1371	CPOX	ORPHA:79273
HP:0008066	Abnormal blistering of the skin	7390	UROS	ORPHA:79277
HP:0008066	Abnormal blistering of the skin	2623	GATA1	ORPHA:79277
HP:0008066	Abnormal blistering of the skin	149233	IL23R	ORPHA:117
HP:0008066	Abnormal blistering of the skin	6775	STAT4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3586	IL10	ORPHA:117
HP:0008066	Abnormal blistering of the skin	1230	CCR1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	355	FAS	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3592	IL12A	ORPHA:117
HP:0008066	Abnormal blistering of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	7099	TLR4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3459	IFNGR1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	720	C4A	ORPHA:117
HP:0008066	Abnormal blistering of the skin	337867	UBAC2	ORPHA:117
HP:0008066	Abnormal blistering of the skin	51752	ERAP1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	8302	KLRC4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	1280	COL2A1	ORPHA:85198
HP:0008066	Abnormal blistering of the skin	977	CD151	OMIM:609057
HP:0008066	Abnormal blistering of the skin	23219	FBXO28	OMIM:619777
HP:0008066	Abnormal blistering of the skin	55612	FERMT1	OMIM:173650
HP:0008066	Abnormal blistering of the skin	56916	SMARCAD1	OMIM:129200
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:132000
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:226600
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:131750
HP:0008066	Abnormal blistering of the skin	4312	MMP1	OMIM:226600
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	OMIM:619783
HP:0008066	Abnormal blistering of the skin	1830	DSG3	OMIM:619226
HP:0008067	Abnormally lax or hyperextensible skin	10159	ATP6AP2	OMIM:301045
HP:0008067	Abnormally lax or hyperextensible skin	11253	MAN1B1	ORPHA:397941
HP:0008067	Abnormally lax or hyperextensible skin	11253	MAN1B1	OMIM:614202
HP:0008067	Abnormally lax or hyperextensible skin	57539	WDR35	OMIM:613610
HP:0008067	Abnormally lax or hyperextensible skin	10653	SPINT2	OMIM:270420
HP:0008067	Abnormally lax or hyperextensible skin	64131	XYLT1	OMIM:264800
HP:0008067	Abnormally lax or hyperextensible skin	2934	GSN	ORPHA:85448
HP:0008067	Abnormally lax or hyperextensible skin	2934	GSN	OMIM:105120
HP:0008067	Abnormally lax or hyperextensible skin	79644	SRD5A3	OMIM:612379
HP:0008067	Abnormally lax or hyperextensible skin	16	AARS1	OMIM:619691
HP:0008067	Abnormally lax or hyperextensible skin	537	ATP6AP1	OMIM:300972
HP:0008067	Abnormally lax or hyperextensible skin	64919	BCL11B	OMIM:617237
HP:0008067	Abnormally lax or hyperextensible skin	51594	NBAS	OMIM:614800
HP:0008067	Abnormally lax or hyperextensible skin	79053	ALG8	ORPHA:79325
HP:0008067	Abnormally lax or hyperextensible skin	171023	ASXL1	OMIM:605039
HP:0008067	Abnormally lax or hyperextensible skin	9742	IFT140	OMIM:266920
HP:0008067	Abnormally lax or hyperextensible skin	112752	IFT43	OMIM:614099
HP:0008067	Abnormally lax or hyperextensible skin	57728	WDR19	OMIM:614378
HP:0008067	Abnormally lax or hyperextensible skin	25871	NEPRO	OMIM:618853
HP:0008067	Abnormally lax or hyperextensible skin	1954	MEGF8	OMIM:614976
HP:0008067	Abnormally lax or hyperextensible skin	2783	GNB2	OMIM:619503
HP:0008067	Abnormally lax or hyperextensible skin	22827	PUF60	ORPHA:508498
HP:0008067	Abnormally lax or hyperextensible skin	7528	YY1	ORPHA:506358
HP:0008067	Abnormally lax or hyperextensible skin	8036	SHOC2	OMIM:607721
HP:0008067	Abnormally lax or hyperextensible skin	7148	TNXB	ORPHA:230839
HP:0008067	Abnormally lax or hyperextensible skin	7148	TNXB	OMIM:606408
HP:0008067	Abnormally lax or hyperextensible skin	1278	COL1A2	ORPHA:230851
HP:0008067	Abnormally lax or hyperextensible skin	1278	COL1A2	OMIM:617821
HP:0008067	Abnormally lax or hyperextensible skin	1278	COL1A2	OMIM:225320
HP:0008067	Abnormally lax or hyperextensible skin	1278	COL1A2	OMIM:619120
HP:0008067	Abnormally lax or hyperextensible skin	1278	COL1A2	ORPHA:1899
HP:0008067	Abnormally lax or hyperextensible skin	6651	SON	OMIM:617140
HP:0008067	Abnormally lax or hyperextensible skin	55033	FKBP14	OMIM:614557
HP:0008067	Abnormally lax or hyperextensible skin	55033	FKBP14	ORPHA:300179
HP:0008067	Abnormally lax or hyperextensible skin	1289	COL5A1	OMIM:619329
HP:0008067	Abnormally lax or hyperextensible skin	1289	COL5A1	ORPHA:287
HP:0008067	Abnormally lax or hyperextensible skin	1289	COL5A1	OMIM:130000
HP:0008067	Abnormally lax or hyperextensible skin	716	C1S	ORPHA:75392
HP:0008067	Abnormally lax or hyperextensible skin	716	C1S	OMIM:617174
HP:0008067	Abnormally lax or hyperextensible skin	3376	IARS1	ORPHA:541423
HP:0008067	Abnormally lax or hyperextensible skin	10000	AKT3	OMIM:615937
HP:0008067	Abnormally lax or hyperextensible skin	9056	SLC7A7	OMIM:222700
HP:0008067	Abnormally lax or hyperextensible skin	1277	COL1A1	ORPHA:287
HP:0008067	Abnormally lax or hyperextensible skin	1277	COL1A1	OMIM:130060
HP:0008067	Abnormally lax or hyperextensible skin	1277	COL1A1	OMIM:619115
HP:0008067	Abnormally lax or hyperextensible skin	1277	COL1A1	ORPHA:1899
HP:0008067	Abnormally lax or hyperextensible skin	1290	COL5A2	ORPHA:287
HP:0008067	Abnormally lax or hyperextensible skin	1290	COL5A2	OMIM:130010
HP:0008067	Abnormally lax or hyperextensible skin	5159	PDGFRB	OMIM:616592
HP:0008067	Abnormally lax or hyperextensible skin	64132	XYLT2	ORPHA:85194
HP:0008067	Abnormally lax or hyperextensible skin	11285	B4GALT7	ORPHA:75496
HP:0008067	Abnormally lax or hyperextensible skin	11285	B4GALT7	OMIM:130070
HP:0008067	Abnormally lax or hyperextensible skin	2316	FLNA	ORPHA:75497
HP:0008067	Abnormally lax or hyperextensible skin	2316	FLNA	ORPHA:555877
HP:0008067	Abnormally lax or hyperextensible skin	10526	IPO8	OMIM:619472
HP:0008067	Abnormally lax or hyperextensible skin	23233	EXOC6B	ORPHA:93359
HP:0008067	Abnormally lax or hyperextensible skin	126792	B3GALT6	ORPHA:93359
HP:0008067	Abnormally lax or hyperextensible skin	126792	B3GALT6	OMIM:271640
HP:0008067	Abnormally lax or hyperextensible skin	126792	B3GALT6	ORPHA:536467
HP:0008067	Abnormally lax or hyperextensible skin	126792	B3GALT6	OMIM:615349
HP:0008067	Abnormally lax or hyperextensible skin	3643	INSR	ORPHA:508
HP:0008067	Abnormally lax or hyperextensible skin	1836	SLC26A2	ORPHA:628
HP:0008067	Abnormally lax or hyperextensible skin	1303	COL12A1	ORPHA:536516
HP:0008067	Abnormally lax or hyperextensible skin	79813	EHMT1	ORPHA:261652
HP:0008067	Abnormally lax or hyperextensible skin	58508	KMT2C	ORPHA:261652
HP:0008067	Abnormally lax or hyperextensible skin	79971	WLS	OMIM:619648
HP:0008067	Abnormally lax or hyperextensible skin	11107	PRDM5	ORPHA:90354
HP:0008067	Abnormally lax or hyperextensible skin	6497	SKI	OMIM:182212
HP:0008067	Abnormally lax or hyperextensible skin	6497	SKI	ORPHA:2462
HP:0008067	Abnormally lax or hyperextensible skin	2629	GBA1	ORPHA:2072
HP:0008067	Abnormally lax or hyperextensible skin	6603	SMARCD2	OMIM:617475
HP:0008067	Abnormally lax or hyperextensible skin	5076	PAX2	OMIM:120330
HP:0008067	Abnormally lax or hyperextensible skin	9469	CHST3	OMIM:245600
HP:0008067	Abnormally lax or hyperextensible skin	26229	B3GAT3	OMIM:245600
HP:0008067	Abnormally lax or hyperextensible skin	91252	SLC39A13	ORPHA:157965
HP:0008067	Abnormally lax or hyperextensible skin	91252	SLC39A13	OMIM:612350
HP:0008067	Abnormally lax or hyperextensible skin	2245	FGD1	ORPHA:915
HP:0008067	Abnormally lax or hyperextensible skin	2200	FBN1	ORPHA:2462
HP:0008067	Abnormally lax or hyperextensible skin	7042	TGFB2	OMIM:614816
HP:0008067	Abnormally lax or hyperextensible skin	6197	RPS6KA3	ORPHA:192
HP:0008067	Abnormally lax or hyperextensible skin	8425	LTBP4	OMIM:613177
HP:0008067	Abnormally lax or hyperextensible skin	9791	PTDSS1	ORPHA:2658
HP:0008067	Abnormally lax or hyperextensible skin	29957	SLC25A24	OMIM:612289
HP:0008067	Abnormally lax or hyperextensible skin	29957	SLC25A24	ORPHA:2963
HP:0008067	Abnormally lax or hyperextensible skin	117581	TWIST2	OMIM:209885
HP:0008067	Abnormally lax or hyperextensible skin	117581	TWIST2	OMIM:200110
HP:0008067	Abnormally lax or hyperextensible skin	117581	TWIST2	ORPHA:1231
HP:0008067	Abnormally lax or hyperextensible skin	117581	TWIST2	ORPHA:920
HP:0008067	Abnormally lax or hyperextensible skin	117581	TWIST2	ORPHA:1807
HP:0008067	Abnormally lax or hyperextensible skin	2677	GGCX	ORPHA:436274
HP:0008067	Abnormally lax or hyperextensible skin	2677	GGCX	ORPHA:91135
HP:0008067	Abnormally lax or hyperextensible skin	6804	STX1A	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	7461	CLIP2	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	84277	DNAJC30	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	8468	FKBP6	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	5982	RFC2	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	2969	GTF2I	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	3984	LIMK1	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	9569	GTF2IRD1	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	155382	VPS37D	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	155368	METTL27	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	114049	BUD23	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	7458	EIF4H	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	84163	GTF2IRD2	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	9275	BCL7B	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	26608	TBL2	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	653361	NCF1	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	135886	TMEM270	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	51085	MLXIPL	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	9031	BAZ1B	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	2006	ELN	ORPHA:904
HP:0008067	Abnormally lax or hyperextensible skin	2006	ELN	OMIM:123700
HP:0008067	Abnormally lax or hyperextensible skin	2006	ELN	ORPHA:90348
HP:0008067	Abnormally lax or hyperextensible skin	3008	H1-4	OMIM:617537
HP:0008067	Abnormally lax or hyperextensible skin	81031	SLC2A10	ORPHA:3342
HP:0008067	Abnormally lax or hyperextensible skin	538	ATP7A	OMIM:304150
HP:0008067	Abnormally lax or hyperextensible skin	3248	HPGD	OMIM:259100
HP:0008067	Abnormally lax or hyperextensible skin	2131	EXT1	ORPHA:502
HP:0008067	Abnormally lax or hyperextensible skin	7227	TRPS1	ORPHA:502
HP:0008067	Abnormally lax or hyperextensible skin	5308	PITX2	ORPHA:782
HP:0008067	Abnormally lax or hyperextensible skin	2296	FOXC1	ORPHA:782
HP:0008067	Abnormally lax or hyperextensible skin	6535	SLC6A8	ORPHA:52503
HP:0008067	Abnormally lax or hyperextensible skin	54453	RIN2	ORPHA:217335
HP:0008067	Abnormally lax or hyperextensible skin	54453	RIN2	OMIM:613075
HP:0008067	Abnormally lax or hyperextensible skin	26281	FGF20	OMIM:615721
HP:0008067	Abnormally lax or hyperextensible skin	54539	NDUFB11	OMIM:301021
HP:0008067	Abnormally lax or hyperextensible skin	523	ATP6V1A	ORPHA:357074
HP:0008067	Abnormally lax or hyperextensible skin	523	ATP6V1A	OMIM:617403
HP:0008067	Abnormally lax or hyperextensible skin	529	ATP6V1E1	ORPHA:357074
HP:0008067	Abnormally lax or hyperextensible skin	165	AEBP1	OMIM:618000
HP:0008067	Abnormally lax or hyperextensible skin	165	AEBP1	ORPHA:536532
HP:0008067	Abnormally lax or hyperextensible skin	8260	NAA10	OMIM:300855
HP:0008067	Abnormally lax or hyperextensible skin	113189	CHST14	ORPHA:2953
HP:0008067	Abnormally lax or hyperextensible skin	29940	DSE	ORPHA:2953
HP:0008067	Abnormally lax or hyperextensible skin	84168	ANTXR1	OMIM:230740
HP:0008067	Abnormally lax or hyperextensible skin	10516	FBLN5	ORPHA:90348
HP:0008067	Abnormally lax or hyperextensible skin	10516	FBLN5	ORPHA:90349
HP:0008067	Abnormally lax or hyperextensible skin	10516	FBLN5	OMIM:219100
HP:0008067	Abnormally lax or hyperextensible skin	5832	ALDH18A1	ORPHA:90348
HP:0008067	Abnormally lax or hyperextensible skin	4052	LTBP1	ORPHA:90349
HP:0008067	Abnormally lax or hyperextensible skin	30008	EFEMP2	ORPHA:90349
HP:0008067	Abnormally lax or hyperextensible skin	5831	PYCR1	OMIM:612940
HP:0008067	Abnormally lax or hyperextensible skin	5831	PYCR1	ORPHA:2078
HP:0008067	Abnormally lax or hyperextensible skin	92344	GORAB	ORPHA:2078
HP:0008067	Abnormally lax or hyperextensible skin	5604	MAP2K1	ORPHA:1340
HP:0008067	Abnormally lax or hyperextensible skin	5605	MAP2K2	ORPHA:1340
HP:0008067	Abnormally lax or hyperextensible skin	3845	KRAS	ORPHA:1340
HP:0008067	Abnormally lax or hyperextensible skin	673	BRAF	ORPHA:1340
HP:0008067	Abnormally lax or hyperextensible skin	10225	CD96	ORPHA:1308
HP:0008067	Abnormally lax or hyperextensible skin	79087	ALG12	ORPHA:79324
HP:0008067	Abnormally lax or hyperextensible skin	64324	NSD1	ORPHA:3447
HP:0008067	Abnormally lax or hyperextensible skin	8726	EED	ORPHA:3447
HP:0008067	Abnormally lax or hyperextensible skin	23512	SUZ12	ORPHA:3447
HP:0008067	Abnormally lax or hyperextensible skin	2146	EZH2	ORPHA:3447
HP:0008067	Abnormally lax or hyperextensible skin	3265	HRAS	ORPHA:3071
HP:0008067	Abnormally lax or hyperextensible skin	1281	COL3A1	ORPHA:286
HP:0008067	Abnormally lax or hyperextensible skin	9509	ADAMTS2	OMIM:225410
HP:0008067	Abnormally lax or hyperextensible skin	2879	GPX4	OMIM:250220
HP:0008067	Abnormally lax or hyperextensible skin	84231	TRAF7	OMIM:618164
HP:0008067	Abnormally lax or hyperextensible skin	54496	PRMT7	OMIM:617157
HP:0008067	Abnormally lax or hyperextensible skin	55165	CEP55	OMIM:236500
HP:0008067	Abnormally lax or hyperextensible skin	6913	TBX15	ORPHA:93333
HP:0008067	Abnormally lax or hyperextensible skin	55593	OTUD5	OMIM:301056
HP:0008067	Abnormally lax or hyperextensible skin	9896	FIG4	OMIM:216340
HP:0008067	Abnormally lax or hyperextensible skin	9896	FIG4	ORPHA:3472
HP:0008067	Abnormally lax or hyperextensible skin	56945	MRPS22	OMIM:611719
HP:0008067	Abnormally lax or hyperextensible skin	79848	CSPP1	ORPHA:397715
HP:0008067	Abnormally lax or hyperextensible skin	9786	KIAA0586	ORPHA:397715
HP:0008067	Abnormally lax or hyperextensible skin	10682	EBP	OMIM:300960
HP:0008067	Abnormally lax or hyperextensible skin	55697	VAC14	ORPHA:3472
HP:0008067	Abnormally lax or hyperextensible skin	4716	NDUFB10	OMIM:619003
HP:0008067	Abnormally lax or hyperextensible skin	285590	SH3PXD2B	OMIM:249420
HP:0008067	Abnormally lax or hyperextensible skin	22884	WDR37	OMIM:618652
HP:0008067	Abnormally lax or hyperextensible skin	2623	GATA1	OMIM:190685
HP:0008067	Abnormally lax or hyperextensible skin	8621	CDK13	OMIM:617360
HP:0008067	Abnormally lax or hyperextensible skin	388015	RTL1	ORPHA:254528
HP:0008067	Abnormally lax or hyperextensible skin	388015	RTL1	ORPHA:96334
HP:0008067	Abnormally lax or hyperextensible skin	8788	DLK1	ORPHA:254528
HP:0008067	Abnormally lax or hyperextensible skin	8788	DLK1	ORPHA:96334
HP:0008067	Abnormally lax or hyperextensible skin	55384	MEG3	ORPHA:254528
HP:0008067	Abnormally lax or hyperextensible skin	55384	MEG3	ORPHA:96334
HP:0008067	Abnormally lax or hyperextensible skin	51021	MRPS16	OMIM:610498
HP:0008067	Abnormally lax or hyperextensible skin	124997	WDR81	OMIM:617967
HP:0008067	Abnormally lax or hyperextensible skin	2683	B4GALT1	ORPHA:79332
HP:0008067	Abnormally lax or hyperextensible skin	5189	PEX1	OMIM:214100
HP:0008067	Abnormally lax or hyperextensible skin	6595	SMARCA2	OMIM:601358
HP:0008067	Abnormally lax or hyperextensible skin	6595	SMARCA2	ORPHA:3051
HP:0008067	Abnormally lax or hyperextensible skin	91949	COG7	OMIM:608779
HP:0008067	Abnormally lax or hyperextensible skin	91949	COG7	ORPHA:79333
HP:0008067	Abnormally lax or hyperextensible skin	5295	PIK3R1	ORPHA:3163
HP:0008067	Abnormally lax or hyperextensible skin	8367	H4C5	OMIM:619950
HP:0008067	Abnormally lax or hyperextensible skin	5167	ENPP1	ORPHA:758
HP:0008067	Abnormally lax or hyperextensible skin	368	ABCC6	ORPHA:758
HP:0008067	Abnormally lax or hyperextensible skin	9719	ADAMTSL2	ORPHA:1901
HP:0008067	Abnormally lax or hyperextensible skin	51750	RTEL1	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	65057	ACD	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	5073	PARN	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	7015	TERT	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	26277	TINF2	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	1736	DKC1	ORPHA:3322
HP:0008067	Abnormally lax or hyperextensible skin	5781	PTPN11	ORPHA:500
HP:0008067	Abnormally lax or hyperextensible skin	5894	RAF1	ORPHA:500
HP:0008067	Abnormally lax or hyperextensible skin	5728	PTEN	ORPHA:137608
HP:0008067	Abnormally lax or hyperextensible skin	1080	CFTR	ORPHA:498359
HP:0008067	Abnormally lax or hyperextensible skin	4882	NPR2	OMIM:602875
HP:0008067	Abnormally lax or hyperextensible skin	715	C1R	OMIM:130080
HP:0008067	Abnormally lax or hyperextensible skin	2261	FGFR3	OMIM:616482
HP:0008067	Abnormally lax or hyperextensible skin	22808	MRAS	OMIM:618499
HP:0008067	Abnormally lax or hyperextensible skin	5351	PLOD1	OMIM:225400
HP:0008067	Abnormally lax or hyperextensible skin	8216	LZTR1	OMIM:616564
HP:0008067	Abnormally lax or hyperextensible skin	8216	LZTR1	OMIM:605275
HP:0008067	Abnormally lax or hyperextensible skin	84627	ZNF469	OMIM:229200
HP:0008067	Abnormally lax or hyperextensible skin	6016	RIT1	OMIM:615355
HP:0008067	Abnormally lax or hyperextensible skin	2263	FGFR2	OMIM:123790
HP:0008067	Abnormally lax or hyperextensible skin	23545	ATP6V0A2	OMIM:278250
HP:0008067	Abnormally lax or hyperextensible skin	203068	TUBB	ORPHA:2505
HP:0008067	Abnormally lax or hyperextensible skin	10982	MAPRE2	ORPHA:2505
HP:0008067	Abnormally lax or hyperextensible skin	9333	TGM5	ORPHA:263534
HP:0008067	Abnormally lax or hyperextensible skin	1475	CSTA	ORPHA:263534
HP:0008067	Abnormally lax or hyperextensible skin	79718	TBL1XR1	ORPHA:487825
HP:0008069	Neoplasm of the skin	4221	MEN1	OMIM:131100
HP:0008069	Neoplasm of the skin	2260	FGFR1	OMIM:613001
HP:0008069	Neoplasm of the skin	1027	CDKN1B	ORPHA:276152
HP:0008069	Neoplasm of the skin	6390	SDHB	OMIM:606764
HP:0008069	Neoplasm of the skin	6391	SDHC	OMIM:606764
HP:0008069	Neoplasm of the skin	3815	KIT	OMIM:606764
HP:0008069	Neoplasm of the skin	6711	SPTBN1	OMIM:619475
HP:0008069	Neoplasm of the skin	161742	SPRED1	OMIM:611431
HP:0008069	Neoplasm of the skin	161742	SPRED1	ORPHA:137605
HP:0008069	Neoplasm of the skin	8314	BAP1	ORPHA:2495
HP:0008069	Neoplasm of the skin	4771	NF2	ORPHA:2495
HP:0008069	Neoplasm of the skin	6598	SMARCB1	ORPHA:2495
HP:0008069	Neoplasm of the skin	5155	PDGFB	ORPHA:2495
HP:0008069	Neoplasm of the skin	84231	TRAF7	ORPHA:2495
HP:0008069	Neoplasm of the skin	6608	SMO	ORPHA:2495
HP:0008069	Neoplasm of the skin	207	AKT1	ORPHA:2495
HP:0008069	Neoplasm of the skin	5290	PIK3CA	ORPHA:2495
HP:0008069	Neoplasm of the skin	7015	TERT	ORPHA:2495
HP:0008069	Neoplasm of the skin	51684	SUFU	ORPHA:2495
HP:0008069	Neoplasm of the skin	6605	SMARCE1	ORPHA:2495
HP:0008069	Neoplasm of the skin	4035	LRP1	ORPHA:79100
HP:0008069	Neoplasm of the skin	355	FAS	ORPHA:3261
HP:0008069	Neoplasm of the skin	356	FASLG	ORPHA:3261
HP:0008069	Neoplasm of the skin	5580	PRKCD	ORPHA:3261
HP:0008069	Neoplasm of the skin	843	CASP10	ORPHA:3261
HP:0008069	Neoplasm of the skin	10125	RASGRP1	ORPHA:3261
HP:0008069	Neoplasm of the skin	6023	RMRP	OMIM:250250
HP:0008069	Neoplasm of the skin	324	APC	ORPHA:99818
HP:0008069	Neoplasm of the skin	8643	PTCH2	OMIM:605462
HP:0008069	Neoplasm of the skin	5727	PTCH1	OMIM:605462
HP:0008069	Neoplasm of the skin	5727	PTCH1	ORPHA:77301
HP:0008069	Neoplasm of the skin	5727	PTCH1	OMIM:109400
HP:0008069	Neoplasm of the skin	5921	RASA1	OMIM:605462
HP:0008069	Neoplasm of the skin	1540	CYLD	ORPHA:867
HP:0008069	Neoplasm of the skin	1540	CYLD	OMIM:601606
HP:0008069	Neoplasm of the skin	3845	KRAS	OMIM:163200
HP:0008069	Neoplasm of the skin	3845	KRAS	ORPHA:144
HP:0008069	Neoplasm of the skin	3265	HRAS	OMIM:163200
HP:0008069	Neoplasm of the skin	3265	HRAS	ORPHA:2874
HP:0008069	Neoplasm of the skin	4072	EPCAM	ORPHA:144
HP:0008069	Neoplasm of the skin	5395	PMS2	ORPHA:144
HP:0008069	Neoplasm of the skin	27030	MLH3	ORPHA:144
HP:0008069	Neoplasm of the skin	22909	FAN1	ORPHA:144
HP:0008069	Neoplasm of the skin	7048	TGFBR2	ORPHA:144
HP:0008069	Neoplasm of the skin	2956	MSH6	ORPHA:144
HP:0008069	Neoplasm of the skin	5378	PMS1	ORPHA:144
HP:0008069	Neoplasm of the skin	64218	SEMA4A	ORPHA:440437
HP:0008069	Neoplasm of the skin	657	BMPR1A	ORPHA:440437
HP:0008069	Neoplasm of the skin	6224	RPS20	ORPHA:440437
HP:0008069	Neoplasm of the skin	2304	FOXE1	OMIM:616534
HP:0008069	Neoplasm of the skin	6223	RPS19	OMIM:105650
HP:0008069	Neoplasm of the skin	9817	KEAP1	ORPHA:276399
HP:0008069	Neoplasm of the skin	23405	DICER1	ORPHA:276399
HP:0008069	Neoplasm of the skin	10804	GJB6	ORPHA:477
HP:0008069	Neoplasm of the skin	2706	GJB2	ORPHA:477
HP:0008069	Neoplasm of the skin	2706	GJB2	OMIM:602540
HP:0008069	Neoplasm of the skin	2706	GJB2	OMIM:148210
HP:0008069	Neoplasm of the skin	80326	WNT10A	OMIM:224750
HP:0008069	Neoplasm of the skin	80326	WNT10A	ORPHA:50944
HP:0008069	Neoplasm of the skin	10519	CIB1	OMIM:618267
HP:0008069	Neoplasm of the skin	10519	CIB1	ORPHA:302
HP:0008069	Neoplasm of the skin	1029	CDKN2A	OMIM:606719
HP:0008069	Neoplasm of the skin	9401	RECQL4	ORPHA:221016
HP:0008069	Neoplasm of the skin	9401	RECQL4	OMIM:268400
HP:0008069	Neoplasm of the skin	55851	PSENEN	OMIM:613736
HP:0008069	Neoplasm of the skin	3621	ING1	OMIM:275355
HP:0008069	Neoplasm of the skin	8795	TNFRSF10B	OMIM:275355
HP:0008069	Neoplasm of the skin	1736	DKC1	OMIM:305000
HP:0008069	Neoplasm of the skin	7486	WRN	ORPHA:902
HP:0008069	Neoplasm of the skin	11322	TMC6	ORPHA:302
HP:0008069	Neoplasm of the skin	3574	IL7	ORPHA:302
HP:0008069	Neoplasm of the skin	147138	TMC8	ORPHA:302
HP:0008069	Neoplasm of the skin	7373	COL14A1	ORPHA:79501
HP:0008069	Neoplasm of the skin	79719	AAGAB	ORPHA:79501
HP:0008069	Neoplasm of the skin	3909	LAMA3	ORPHA:79404
HP:0008069	Neoplasm of the skin	3918	LAMC2	ORPHA:79404
HP:0008069	Neoplasm of the skin	3914	LAMB3	ORPHA:79404
HP:0008069	Neoplasm of the skin	1308	COL17A1	ORPHA:79406
HP:0008069	Neoplasm of the skin	4312	MMP1	ORPHA:79408
HP:0008069	Neoplasm of the skin	4312	MMP1	OMIM:226600
HP:0008069	Neoplasm of the skin	1294	COL7A1	ORPHA:79408
HP:0008069	Neoplasm of the skin	1294	COL7A1	ORPHA:79409
HP:0008069	Neoplasm of the skin	1294	COL7A1	OMIM:226600
HP:0008069	Neoplasm of the skin	1294	COL7A1	ORPHA:89842
HP:0008069	Neoplasm of the skin	1294	COL7A1	ORPHA:79410
HP:0008069	Neoplasm of the skin	1294	COL7A1	ORPHA:79411
HP:0008069	Neoplasm of the skin	641	BLM	OMIM:210900
HP:0008069	Neoplasm of the skin	5429	POLH	OMIM:278750
HP:0008069	Neoplasm of the skin	5429	POLH	ORPHA:90342
HP:0008069	Neoplasm of the skin	55612	FERMT1	ORPHA:2908
HP:0008069	Neoplasm of the skin	4913	NTHL1	ORPHA:454840
HP:0008069	Neoplasm of the skin	2072	ERCC4	OMIM:278760
HP:0008069	Neoplasm of the skin	84464	SLX4	OMIM:613951
HP:0008069	Neoplasm of the skin	404672	GTF2H5	ORPHA:33364
HP:0008069	Neoplasm of the skin	833	CARS1	ORPHA:33364
HP:0008069	Neoplasm of the skin	2068	ERCC2	ORPHA:33364
HP:0008069	Neoplasm of the skin	2068	ERCC2	OMIM:601675
HP:0008069	Neoplasm of the skin	7737	RNF113A	ORPHA:33364
HP:0008069	Neoplasm of the skin	136647	MPLKIP	ORPHA:33364
HP:0008069	Neoplasm of the skin	6897	TARS1	ORPHA:33364
HP:0008069	Neoplasm of the skin	2071	ERCC3	ORPHA:33364
HP:0008069	Neoplasm of the skin	2961	GTF2E2	ORPHA:33364
HP:0008069	Neoplasm of the skin	81704	DOCK8	OMIM:243700
HP:0008069	Neoplasm of the skin	81704	DOCK8	ORPHA:217390
HP:0008069	Neoplasm of the skin	23328	SASH1	OMIM:618373
HP:0008069	Neoplasm of the skin	22861	NLRP1	OMIM:615225
HP:0008069	Neoplasm of the skin	2224	FDPS	ORPHA:79152
HP:0008069	Neoplasm of the skin	4597	MVD	ORPHA:79152
HP:0008069	Neoplasm of the skin	63910	SLC17A9	ORPHA:79152
HP:0008069	Neoplasm of the skin	4598	MVK	ORPHA:79152
HP:0008069	Neoplasm of the skin	7390	UROS	ORPHA:79277
HP:0008069	Neoplasm of the skin	2623	GATA1	ORPHA:79277
HP:0008069	Neoplasm of the skin	23476	BRD4	ORPHA:443167
HP:0008069	Neoplasm of the skin	256646	NUTM1	ORPHA:443167
HP:0008069	Neoplasm of the skin	1075	CTSC	ORPHA:678
HP:0008069	Neoplasm of the skin	64682	ANAPC1	ORPHA:221008
HP:0008069	Neoplasm of the skin	7298	TYMS	OMIM:620040
HP:0008069	Neoplasm of the skin	284654	RSPO1	ORPHA:85112
HP:0008069	Neoplasm of the skin	1643	DDB2	OMIM:278740
HP:0008069	Neoplasm of the skin	4000	LMNA	ORPHA:363618
HP:0008069	Neoplasm of the skin	2073	ERCC5	ORPHA:220295
HP:0008069	Neoplasm of the skin	56916	SMARCAD1	OMIM:181600
HP:0008069	Neoplasm of the skin	26277	TINF2	OMIM:127550
HP:0008069	Neoplasm of the skin	7012	TERC	OMIM:127550
HP:0008069	Neoplasm of the skin	3852	KRT5	ORPHA:79396
HP:0008069	Neoplasm of the skin	3861	KRT14	ORPHA:79396
HP:0008069	Neoplasm of the skin	7299	TYR	ORPHA:79431
HP:0008069	Neoplasm of the skin	7299	TYR	ORPHA:79434
HP:0008069	Neoplasm of the skin	4157	MC1R	ORPHA:79432
HP:0008069	Neoplasm of the skin	4948	OCA2	ORPHA:79432
HP:0008069	Neoplasm of the skin	7508	XPC	OMIM:278720
HP:0008069	Neoplasm of the skin	7507	XPA	OMIM:278700
HP:0008069	Neoplasm of the skin	2271	FH	OMIM:150800
HP:0008069	Neoplasm of the skin	201163	FLCN	OMIM:135150
HP:0008069	Neoplasm of the skin	4763	NF1	ORPHA:97685
HP:0008069	Neoplasm of the skin	257	ALX3	OMIM:136760
HP:0008069	Neoplasm of the skin	1493	CTLA4	ORPHA:3162
HP:0008069	Neoplasm of the skin	1493	CTLA4	ORPHA:2584
HP:0008069	Neoplasm of the skin	940	CD28	ORPHA:3162
HP:0008069	Neoplasm of the skin	940	CD28	ORPHA:2584
HP:0008069	Neoplasm of the skin	7133	TNFRSF1B	ORPHA:3162
HP:0008069	Neoplasm of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0008069	Neoplasm of the skin	4854	NOTCH3	ORPHA:2591
HP:0008069	Neoplasm of the skin	5159	PDGFRB	ORPHA:2591
HP:0008069	Neoplasm of the skin	9630	GNA14	ORPHA:1063
HP:0008069	Neoplasm of the skin	3248	HPGD	ORPHA:2796
HP:0008069	Neoplasm of the skin	6578	SLCO2A1	ORPHA:2796
HP:0008069	Neoplasm of the skin	8943	AP3D1	ORPHA:54
HP:0008069	Neoplasm of the skin	4935	GPR143	ORPHA:54
HP:0008069	Neoplasm of the skin	51360	MBTPS2	ORPHA:659
HP:0008069	Neoplasm of the skin	162514	TRPV3	ORPHA:659
HP:0008069	Neoplasm of the skin	64065	PERP	ORPHA:659
HP:0008069	Neoplasm of the skin	2697	GJA1	ORPHA:317
HP:0008069	Neoplasm of the skin	2707	GJB3	ORPHA:317
HP:0008069	Neoplasm of the skin	2531	KDSR	ORPHA:317
HP:0008069	Neoplasm of the skin	127534	GJB4	ORPHA:317
HP:0008069	Neoplasm of the skin	57165	GJC2	ORPHA:79452
HP:0008069	Neoplasm of the skin	1277	COL1A1	ORPHA:31112
HP:0008069	Neoplasm of the skin	4952	OCRL	ORPHA:534
HP:0008069	Neoplasm of the skin	6591	SNAI2	ORPHA:2884
HP:0008069	Neoplasm of the skin	51151	SLC45A2	ORPHA:79435
HP:0008069	Neoplasm of the skin	7249	TSC2	OMIM:613254
HP:0008069	Neoplasm of the skin	3458	IFNG	OMIM:613254
HP:0008069	Neoplasm of the skin	5333	PLCD1	ORPHA:2387
HP:0008069	Neoplasm of the skin	7248	TSC1	OMIM:191100
HP:0008069	Neoplasm of the skin	3872	KRT17	OMIM:184500
HP:0008069	Neoplasm of the skin	3872	KRT17	OMIM:167210
HP:0008069	Neoplasm of the skin	3872	KRT17	ORPHA:2309
HP:0008069	Neoplasm of the skin	3872	KRT17	ORPHA:841
HP:0008069	Neoplasm of the skin	3854	KRT6B	OMIM:615728
HP:0008069	Neoplasm of the skin	3854	KRT6B	ORPHA:2309
HP:0008069	Neoplasm of the skin	3868	KRT16	ORPHA:2309
HP:0008069	Neoplasm of the skin	3853	KRT6A	ORPHA:2309
HP:0008069	Neoplasm of the skin	6794	STK11	OMIM:155600
HP:0008069	Neoplasm of the skin	4286	MITF	OMIM:614456
HP:0008069	Neoplasm of the skin	1019	CDK4	OMIM:609048
HP:0008069	Neoplasm of the skin	673	BRAF	OMIM:613706
HP:0008069	Neoplasm of the skin	6772	STAT1	ORPHA:391487
HP:0008069	Neoplasm of the skin	10043	TOM1	ORPHA:391487
HP:0008069	Neoplasm of the skin	10483	SEC23B	ORPHA:201
HP:0008069	Neoplasm of the skin	10483	SEC23B	OMIM:616858
HP:0008069	Neoplasm of the skin	5728	PTEN	ORPHA:201
HP:0008069	Neoplasm of the skin	6392	SDHD	ORPHA:201
HP:0008069	Neoplasm of the skin	205717	USF3	ORPHA:201
HP:0008069	Neoplasm of the skin	100144748	KLLN	ORPHA:201
HP:0008069	Neoplasm of the skin	7852	CXCR4	ORPHA:51636
HP:0008069	Neoplasm of the skin	2324	FLT4	OMIM:153100
HP:0008069	Neoplasm of the skin	64840	PORCN	ORPHA:2092
HP:0008069	Neoplasm of the skin	4437	MSH3	ORPHA:480536
HP:0008069	Neoplasm of the skin	545	ATR	OMIM:614564
HP:0008069	Neoplasm of the skin	4292	MLH1	OMIM:158320
HP:0008069	Neoplasm of the skin	4436	MSH2	OMIM:158320
HP:0008069	Neoplasm of the skin	2778	GNAS	ORPHA:562
HP:0008069	Neoplasm of the skin	5566	PRKACA	ORPHA:189439
HP:0008069	Neoplasm of the skin	8622	PDE8B	ORPHA:189439
HP:0008069	Neoplasm of the skin	5573	PRKAR1A	ORPHA:189439
HP:0008069	Neoplasm of the skin	5573	PRKAR1A	ORPHA:1359
HP:0008069	Neoplasm of the skin	50940	PDE11A	ORPHA:189439
HP:0008069	Neoplasm of the skin	50940	PDE11A	ORPHA:1359
HP:0008069	Neoplasm of the skin	1387	CREBBP	ORPHA:353277
HP:0008069	Neoplasm of the skin	1387	CREBBP	ORPHA:353281
HP:0008069	Neoplasm of the skin	1499	CTNNB1	ORPHA:91414
HP:0008069	Neoplasm of the skin	1499	CTNNB1	OMIM:132600
HP:0008069	Neoplasm of the skin	2033	EP300	ORPHA:353284
HP:0008069	Neoplasm of the skin	56983	POGLUT1	ORPHA:79145
HP:0008069	Neoplasm of the skin	23509	POFUT1	ORPHA:79145
HP:0008069	Neoplasm of the skin	399	RHOH	OMIM:618307
HP:0008069	Neoplasm of the skin	920	CD4	OMIM:619238
HP:0008069	Neoplasm of the skin	7174	TPP2	OMIM:619220
HP:0008069	Neoplasm of the skin	6786	STIM1	OMIM:612783
HP:0008069	Neoplasm of the skin	3569	IL6	OMIM:148000
HP:0008069	Neoplasm of the skin	7293	TNFRSF4	OMIM:615593
HP:0008069	Neoplasm of the skin	7157	TP53	OMIM:260500
HP:0008069	Neoplasm of the skin	7157	TP53	ORPHA:2807
HP:0008069	Neoplasm of the skin	4893	NRAS	OMIM:249400
HP:0008069	Neoplasm of the skin	1893	ECM1	ORPHA:530
HP:0008069	Neoplasm of the skin	8517	IKBKG	ORPHA:464
HP:0008069	Neoplasm of the skin	64421	DCLRE1C	ORPHA:275
HP:0008069	Neoplasm of the skin	146206	CARMIL2	OMIM:618131
HP:0008069	Neoplasm of the skin	8547	FCN3	OMIM:613860
HP:0008069	Neoplasm of the skin	2624	GATA2	OMIM:614038
HP:0008069	Neoplasm of the skin	10625	IVNS1ABP	OMIM:618969
HP:0008069	Neoplasm of the skin	488	ATP2A2	ORPHA:79151
HP:0008069	Neoplasm of the skin	54440	SASH3	OMIM:301082
HP:0008069	Neoplasm of the skin	6789	STK4	OMIM:614868
HP:0008069	Neoplasm of the skin	6929	TCF3	ORPHA:33110
HP:0008069	Neoplasm of the skin	973	CD79A	ORPHA:33110
HP:0008069	Neoplasm of the skin	974	CD79B	ORPHA:33110
HP:0008069	Neoplasm of the skin	3543	IGLL1	ORPHA:33110
HP:0008069	Neoplasm of the skin	3507	IGHM	ORPHA:33110
HP:0008069	Neoplasm of the skin	29760	BLNK	ORPHA:33110
HP:0008069	Neoplasm of the skin	5295	PIK3R1	ORPHA:33110
HP:0008069	Neoplasm of the skin	56262	LRRC8A	ORPHA:33110
HP:0001761	Pes cavus	8450	CUL4B	OMIM:300354
HP:0001761	Pes cavus	8450	CUL4B	ORPHA:85293
HP:0001761	Pes cavus	2643	GCH1	OMIM:128230
HP:0001761	Pes cavus	2643	GCH1	ORPHA:98808
HP:0001761	Pes cavus	23769	FLRT1	ORPHA:320406
HP:0001761	Pes cavus	64837	KLC2	ORPHA:320406
HP:0001761	Pes cavus	64837	KLC2	OMIM:609541
HP:0001761	Pes cavus	6535	SLC6A8	OMIM:300352
HP:0001761	Pes cavus	91574	MTRFR	ORPHA:254930
HP:0001761	Pes cavus	5376	PMP22	OMIM:118300
HP:0001761	Pes cavus	5376	PMP22	OMIM:180800
HP:0001761	Pes cavus	5376	PMP22	ORPHA:90658
HP:0001761	Pes cavus	5376	PMP22	ORPHA:3115
HP:0001761	Pes cavus	5376	PMP22	ORPHA:101081
HP:0001761	Pes cavus	5376	PMP22	OMIM:118220
HP:0001761	Pes cavus	5376	PMP22	OMIM:145900
HP:0001761	Pes cavus	5376	PMP22	ORPHA:640
HP:0001761	Pes cavus	3094	HINT1	ORPHA:324442
HP:0001761	Pes cavus	9853	RUSC2	OMIM:617773
HP:0001761	Pes cavus	57165	GJC2	ORPHA:320401
HP:0001761	Pes cavus	57165	GJC2	OMIM:613206
HP:0001761	Pes cavus	59341	TRPV4	OMIM:606071
HP:0001761	Pes cavus	22880	MORC2	OMIM:616688
HP:0001761	Pes cavus	22880	MORC2	ORPHA:466768
HP:0001761	Pes cavus	80821	DDHD1	OMIM:609340
HP:0001761	Pes cavus	80821	DDHD1	ORPHA:101008
HP:0001761	Pes cavus	7415	VCP	OMIM:616687
HP:0001761	Pes cavus	7415	VCP	ORPHA:435387
HP:0001761	Pes cavus	50717	DCAF8	OMIM:610100
HP:0001761	Pes cavus	4897	NRCAM	OMIM:619833
HP:0001761	Pes cavus	4747	NEFL	ORPHA:99939
HP:0001761	Pes cavus	4747	NEFL	ORPHA:101085
HP:0001761	Pes cavus	4747	NEFL	OMIM:607684
HP:0001761	Pes cavus	4747	NEFL	OMIM:607734
HP:0001761	Pes cavus	4747	NEFL	OMIM:617882
HP:0001761	Pes cavus	5165	PDK3	OMIM:300905
HP:0001761	Pes cavus	5165	PDK3	ORPHA:352675
HP:0001761	Pes cavus	11284	PNKP	ORPHA:459033
HP:0001761	Pes cavus	84942	WDR73	OMIM:251300
HP:0001761	Pes cavus	55775	TDP1	ORPHA:94124
HP:0001761	Pes cavus	55775	TDP1	OMIM:607250
HP:0001761	Pes cavus	5111	PCNA	OMIM:615919
HP:0001761	Pes cavus	4359	MPZ	OMIM:180800
HP:0001761	Pes cavus	4359	MPZ	ORPHA:3115
HP:0001761	Pes cavus	4359	MPZ	OMIM:118200
HP:0001761	Pes cavus	4359	MPZ	OMIM:145900
HP:0001761	Pes cavus	4359	MPZ	OMIM:607677
HP:0001761	Pes cavus	4359	MPZ	OMIM:607736
HP:0001761	Pes cavus	6687	SPG7	ORPHA:99013
HP:0001761	Pes cavus	6687	SPG7	OMIM:607259
HP:0001761	Pes cavus	7879	RAB7A	OMIM:600882
HP:0001761	Pes cavus	5631	PRPS1	ORPHA:99014
HP:0001761	Pes cavus	5631	PRPS1	OMIM:311070
HP:0001761	Pes cavus	8291	DYSF	ORPHA:268
HP:0001761	Pes cavus	4784	NFIX	ORPHA:447980
HP:0001761	Pes cavus	200205	IBA57	ORPHA:468661
HP:0001761	Pes cavus	3074	HEXB	ORPHA:309162
HP:0001761	Pes cavus	80232	WDR26	ORPHA:513456
HP:0001761	Pes cavus	80232	WDR26	OMIM:617616
HP:0001761	Pes cavus	538	ATP7A	OMIM:300489
HP:0001761	Pes cavus	8566	PDXK	OMIM:618511
HP:0001761	Pes cavus	3021	H3-3B	OMIM:619721
HP:0001761	Pes cavus	6576	SLC25A1	OMIM:618197
HP:0001761	Pes cavus	6576	SLC25A1	ORPHA:98914
HP:0001761	Pes cavus	128486	FITM2	OMIM:618635
HP:0001761	Pes cavus	9197	SLC33A1	OMIM:612539
HP:0001761	Pes cavus	9197	SLC33A1	ORPHA:171863
HP:0001761	Pes cavus	81846	SBF2	OMIM:604563
HP:0001761	Pes cavus	81846	SBF2	ORPHA:99956
HP:0001761	Pes cavus	4625	MYH7	OMIM:160500
HP:0001761	Pes cavus	4625	MYH7	ORPHA:437572
HP:0001761	Pes cavus	54332	GDAP1	OMIM:607706
HP:0001761	Pes cavus	54332	GDAP1	ORPHA:101097
HP:0001761	Pes cavus	54332	GDAP1	OMIM:608340
HP:0001761	Pes cavus	54332	GDAP1	ORPHA:99948
HP:0001761	Pes cavus	60482	SLC5A7	OMIM:158580
HP:0001761	Pes cavus	60482	SLC5A7	ORPHA:98914
HP:0001761	Pes cavus	23321	TRIM2	OMIM:615490
HP:0001761	Pes cavus	4358	MPV17	OMIM:618400
HP:0001761	Pes cavus	7345	UCHL1	OMIM:615491
HP:0001761	Pes cavus	284058	KANSL1	ORPHA:363958
HP:0001761	Pes cavus	284058	KANSL1	ORPHA:363965
HP:0001761	Pes cavus	55154	MSTO1	OMIM:617675
HP:0001761	Pes cavus	55154	MSTO1	ORPHA:502423
HP:0001761	Pes cavus	57449	PLEKHG5	OMIM:615376
HP:0001761	Pes cavus	274	BIN1	OMIM:255200
HP:0001761	Pes cavus	274	BIN1	ORPHA:169186
HP:0001761	Pes cavus	5119	CHMP1A	OMIM:614961
HP:0001761	Pes cavus	81857	MED25	ORPHA:464738
HP:0001761	Pes cavus	6843	VAMP1	OMIM:108600
HP:0001761	Pes cavus	6843	VAMP1	ORPHA:251282
HP:0001761	Pes cavus	6843	VAMP1	ORPHA:98914
HP:0001761	Pes cavus	55187	VPS13D	ORPHA:95434
HP:0001761	Pes cavus	55187	VPS13D	OMIM:607317
HP:0001761	Pes cavus	27072	VPS41	ORPHA:95434
HP:0001761	Pes cavus	823	CAPN1	OMIM:616907
HP:0001761	Pes cavus	823	CAPN1	ORPHA:488594
HP:0001761	Pes cavus	5832	ALDH18A1	OMIM:601162
HP:0001761	Pes cavus	5832	ALDH18A1	ORPHA:447757
HP:0001761	Pes cavus	5832	ALDH18A1	ORPHA:447753
HP:0001761	Pes cavus	7274	TTPA	ORPHA:96
HP:0001761	Pes cavus	23400	ATP13A2	ORPHA:513436
HP:0001761	Pes cavus	23400	ATP13A2	OMIM:617225
HP:0001761	Pes cavus	57190	SELENON	ORPHA:2020
HP:0001761	Pes cavus	58	ACTA1	ORPHA:2020
HP:0001761	Pes cavus	58	ACTA1	OMIM:161800
HP:0001761	Pes cavus	58	ACTA1	ORPHA:171439
HP:0001761	Pes cavus	4633	MYL2	ORPHA:2020
HP:0001761	Pes cavus	3679	ITGA7	ORPHA:2020
HP:0001761	Pes cavus	7169	TPM2	ORPHA:2020
HP:0001761	Pes cavus	7169	TPM2	ORPHA:171439
HP:0001761	Pes cavus	9200	HACD1	ORPHA:2020
HP:0001761	Pes cavus	7170	TPM3	ORPHA:2020
HP:0001761	Pes cavus	7170	TPM3	ORPHA:171439
HP:0001761	Pes cavus	7170	TPM3	OMIM:609284
HP:0001761	Pes cavus	51776	MAP3K20	ORPHA:2020
HP:0001761	Pes cavus	4763	NF1	ORPHA:363700
HP:0001761	Pes cavus	478	ATP1A3	ORPHA:1171
HP:0001761	Pes cavus	478	ATP1A3	OMIM:601338
HP:0001761	Pes cavus	5297	PI4KA	OMIM:619621
HP:0001761	Pes cavus	83636	C19orf12	OMIM:614298
HP:0001761	Pes cavus	83636	C19orf12	OMIM:615043
HP:0001761	Pes cavus	833	CARS1	OMIM:618891
HP:0001761	Pes cavus	2903	GRIN2A	ORPHA:289266
HP:0001761	Pes cavus	2903	GRIN2A	OMIM:245570
HP:0001761	Pes cavus	65055	REEP1	OMIM:610250
HP:0001761	Pes cavus	65055	REEP1	OMIM:614751
HP:0001761	Pes cavus	65055	REEP1	ORPHA:139536
HP:0001761	Pes cavus	65055	REEP1	ORPHA:101011
HP:0001761	Pes cavus	80208	SPG11	ORPHA:2822
HP:0001761	Pes cavus	80208	SPG11	OMIM:604360
HP:0001761	Pes cavus	80208	SPG11	OMIM:616668
HP:0001761	Pes cavus	51271	UBAP1	OMIM:618418
HP:0001761	Pes cavus	51271	UBAP1	ORPHA:100993
HP:0001761	Pes cavus	55526	DHTKD1	OMIM:615025
HP:0001761	Pes cavus	26090	ABHD12	OMIM:612674
HP:0001761	Pes cavus	3735	KARS1	OMIM:613641
HP:0001761	Pes cavus	2629	GBA1	OMIM:231005
HP:0001761	Pes cavus	2629	GBA1	ORPHA:2072
HP:0001761	Pes cavus	54840	APTX	OMIM:208920
HP:0001761	Pes cavus	11160	ERLIN2	OMIM:611225
HP:0001761	Pes cavus	2705	GJB1	ORPHA:1175
HP:0001761	Pes cavus	2705	GJB1	ORPHA:101075
HP:0001761	Pes cavus	2705	GJB1	OMIM:302800
HP:0001761	Pes cavus	526	ATP6V1B2	ORPHA:3473
HP:0001761	Pes cavus	3756	KCNH1	ORPHA:3473
HP:0001761	Pes cavus	3782	KCNN3	ORPHA:3473
HP:0001761	Pes cavus	3425	IDUA	OMIM:607016
HP:0001761	Pes cavus	2395	FXN	ORPHA:95
HP:0001761	Pes cavus	2395	FXN	OMIM:229300
HP:0001761	Pes cavus	9927	MFN2	OMIM:601152
HP:0001761	Pes cavus	9927	MFN2	ORPHA:99947
HP:0001761	Pes cavus	9927	MFN2	OMIM:609260
HP:0001761	Pes cavus	9927	MFN2	OMIM:617087
HP:0001761	Pes cavus	121512	FGD4	OMIM:609311
HP:0001761	Pes cavus	5192	PEX10	ORPHA:247815
HP:0001761	Pes cavus	5192	PEX10	OMIM:614871
HP:0001761	Pes cavus	3475	IFRD1	ORPHA:98771
HP:0001761	Pes cavus	9897	WASHC5	OMIM:603563
HP:0001761	Pes cavus	9897	WASHC5	ORPHA:100989
HP:0001761	Pes cavus	9131	AIFM1	ORPHA:101078
HP:0001761	Pes cavus	85301	COL27A1	OMIM:615155
HP:0001761	Pes cavus	23312	DMXL2	ORPHA:453533
HP:0001761	Pes cavus	23259	DDHD2	OMIM:615033
HP:0001761	Pes cavus	1593	CYP27A1	ORPHA:909
HP:0001761	Pes cavus	84665	MYPN	OMIM:617336
HP:0001761	Pes cavus	84665	MYPN	ORPHA:171439
HP:0001761	Pes cavus	4744	NEFH	OMIM:616924
HP:0001761	Pes cavus	8239	USP9X	ORPHA:480880
HP:0001761	Pes cavus	8239	USP9X	OMIM:300968
HP:0001761	Pes cavus	5828	PEX2	OMIM:614867
HP:0001761	Pes cavus	2073	ERCC5	OMIM:278780
HP:0001761	Pes cavus	2259	FGF14	ORPHA:98764
HP:0001761	Pes cavus	2259	FGF14	OMIM:193003
HP:0001761	Pes cavus	23503	ZFYVE26	OMIM:270700
HP:0001761	Pes cavus	23503	ZFYVE26	ORPHA:100996
HP:0001761	Pes cavus	4311	MME	ORPHA:497764
HP:0001761	Pes cavus	4311	MME	OMIM:617018
HP:0001761	Pes cavus	26137	ZBTB20	OMIM:259050
HP:0001761	Pes cavus	23095	KIF1B	OMIM:118210
HP:0001761	Pes cavus	2720	GLB1	OMIM:230650
HP:0001761	Pes cavus	81887	LAS1L	ORPHA:3459
HP:0001761	Pes cavus	81887	LAS1L	OMIM:309585
HP:0001761	Pes cavus	55869	HDAC8	ORPHA:3459
HP:0001761	Pes cavus	56652	TWNK	OMIM:616138
HP:0001761	Pes cavus	56652	TWNK	OMIM:607459
HP:0001761	Pes cavus	400916	CHCHD10	OMIM:615048
HP:0001761	Pes cavus	23096	IQSEC2	ORPHA:217377
HP:0001761	Pes cavus	11261	CHP1	OMIM:618438
HP:0001761	Pes cavus	5191	PEX7	OMIM:614879
HP:0001761	Pes cavus	5191	PEX7	OMIM:266500
HP:0001761	Pes cavus	5191	PEX7	ORPHA:773
HP:0001761	Pes cavus	10280	SIGMAR1	OMIM:605726
HP:0001761	Pes cavus	55129	ANO10	ORPHA:284289
HP:0001761	Pes cavus	55129	ANO10	OMIM:613728
HP:0001761	Pes cavus	23299	BICD2	OMIM:615290
HP:0001761	Pes cavus	11117	EMILIN1	OMIM:620080
HP:0001761	Pes cavus	4677	NARS1	OMIM:619092
HP:0001761	Pes cavus	3423	IDS	OMIM:309900
HP:0001761	Pes cavus	339855	KY	OMIM:617114
HP:0001761	Pes cavus	3300	DNAJB2	OMIM:614881
HP:0001761	Pes cavus	390594	KBTBD13	ORPHA:171439
HP:0001761	Pes cavus	4703	NEB	ORPHA:171439
HP:0001761	Pes cavus	10324	KLHL41	ORPHA:171439
HP:0001761	Pes cavus	3930	LBR	OMIM:169400
HP:0001761	Pes cavus	2146	EZH2	OMIM:277590
HP:0001761	Pes cavus	2146	EZH2	ORPHA:3447
HP:0001761	Pes cavus	2961	GTF2E2	OMIM:616943
HP:0001761	Pes cavus	51062	ATL1	OMIM:182600
HP:0001761	Pes cavus	51062	ATL1	OMIM:613708
HP:0001761	Pes cavus	57704	GBA2	OMIM:614409
HP:0001761	Pes cavus	57704	GBA2	ORPHA:352641
HP:0001761	Pes cavus	57704	GBA2	ORPHA:320391
HP:0001761	Pes cavus	2316	FLNA	ORPHA:1826
HP:0001761	Pes cavus	6885	MAP3K7	ORPHA:1826
HP:0001761	Pes cavus	85021	REPS1	OMIM:617916
HP:0001761	Pes cavus	57679	ALS2	OMIM:607225
HP:0001761	Pes cavus	2072	ERCC4	OMIM:610965
HP:0001761	Pes cavus	26353	HSPB8	OMIM:608673
HP:0001761	Pes cavus	3098	HK1	ORPHA:99953
HP:0001761	Pes cavus	3098	HK1	OMIM:605285
HP:0001761	Pes cavus	4313	MMP2	OMIM:259600
HP:0001761	Pes cavus	84188	FAR1	ORPHA:447753
HP:0001761	Pes cavus	64324	NSD1	ORPHA:3447
HP:0001761	Pes cavus	8726	EED	ORPHA:3447
HP:0001761	Pes cavus	23512	SUZ12	ORPHA:3447
HP:0001761	Pes cavus	79628	SH3TC2	OMIM:601596
HP:0001761	Pes cavus	79628	SH3TC2	ORPHA:99949
HP:0001761	Pes cavus	6253	RTN2	ORPHA:100993
HP:0001761	Pes cavus	6253	RTN2	OMIM:604805
HP:0001761	Pes cavus	3329	HSPD1	ORPHA:100994
HP:0001761	Pes cavus	10397	NDRG1	ORPHA:99950
HP:0001761	Pes cavus	10397	NDRG1	OMIM:601455
HP:0001761	Pes cavus	3730	ANOS1	OMIM:308700
HP:0001761	Pes cavus	3730	ANOS1	ORPHA:478
HP:0001761	Pes cavus	5428	POLG	OMIM:607459
HP:0001761	Pes cavus	5428	POLG	OMIM:258450
HP:0001761	Pes cavus	5428	POLG	OMIM:157640
HP:0001761	Pes cavus	3798	KIF5A	ORPHA:100991
HP:0001761	Pes cavus	3798	KIF5A	OMIM:604187
HP:0001761	Pes cavus	59345	GNB4	OMIM:615185
HP:0001761	Pes cavus	10533	ATG7	OMIM:619422
HP:0001761	Pes cavus	3991	LIPE	OMIM:615980
HP:0001761	Pes cavus	57716	PRX	OMIM:614895
HP:0001761	Pes cavus	57716	PRX	OMIM:145900
HP:0001761	Pes cavus	1337	COX6A1	OMIM:616039
HP:0001761	Pes cavus	2583	B4GALNT1	OMIM:609195
HP:0001761	Pes cavus	2583	B4GALNT1	ORPHA:101006
HP:0001761	Pes cavus	51308	REEP2	OMIM:615625
HP:0001761	Pes cavus	51308	REEP2	ORPHA:401849
HP:0001761	Pes cavus	7319	UBE2A	ORPHA:163956
HP:0001761	Pes cavus	23064	SETX	OMIM:606002
HP:0001761	Pes cavus	23064	SETX	ORPHA:357043
HP:0001761	Pes cavus	9230	RAB11B	OMIM:617807
HP:0001761	Pes cavus	4000	LMNA	ORPHA:98856
HP:0001761	Pes cavus	4000	LMNA	OMIM:605588
HP:0001761	Pes cavus	1959	EGR2	OMIM:145900
HP:0001761	Pes cavus	5830	PEX5	OMIM:616716
HP:0001761	Pes cavus	1785	DNM2	OMIM:606482
HP:0001761	Pes cavus	2617	GARS1	OMIM:601472
HP:0001761	Pes cavus	2617	GARS1	ORPHA:139536
HP:0001761	Pes cavus	2617	GARS1	OMIM:600794
HP:0001761	Pes cavus	2260	FGFR1	ORPHA:478
HP:0001761	Pes cavus	10371	SEMA3A	ORPHA:478
HP:0001761	Pes cavus	81848	SPRY4	ORPHA:478
HP:0001761	Pes cavus	23767	FLRT3	ORPHA:478
HP:0001761	Pes cavus	128674	PROKR2	ORPHA:478
HP:0001761	Pes cavus	79625	NDNF	ORPHA:478
HP:0001761	Pes cavus	2253	FGF8	ORPHA:478
HP:0001761	Pes cavus	389549	FEZF1	ORPHA:478
HP:0001761	Pes cavus	1630	DCC	ORPHA:478
HP:0001761	Pes cavus	54756	IL17RD	ORPHA:478
HP:0001761	Pes cavus	6663	SOX10	ORPHA:478
HP:0001761	Pes cavus	6663	SOX10	OMIM:609136
HP:0001761	Pes cavus	285025	CCDC141	ORPHA:478
HP:0001761	Pes cavus	60675	PROK2	ORPHA:478
HP:0001761	Pes cavus	55636	CHD7	ORPHA:478
HP:0001761	Pes cavus	1848	DUSP6	ORPHA:478
HP:0001761	Pes cavus	6870	TACR3	ORPHA:478
HP:0001761	Pes cavus	55717	WDR11	ORPHA:478
HP:0001761	Pes cavus	9394	HS6ST1	ORPHA:478
HP:0001761	Pes cavus	8820	HESX1	ORPHA:478
HP:0001761	Pes cavus	8822	FGF17	ORPHA:478
HP:0001761	Pes cavus	8729	GBF1	OMIM:606483
HP:0001761	Pes cavus	10290	SPEG	ORPHA:169186
HP:0001761	Pes cavus	6261	RYR1	ORPHA:169186
HP:0001761	Pes cavus	7273	TTN	ORPHA:169186
HP:0001761	Pes cavus	5979	RET	OMIM:162300
HP:0001761	Pes cavus	23111	SPART	OMIM:275900
HP:0001761	Pes cavus	23111	SPART	ORPHA:101000
HP:0001761	Pes cavus	23013	SPEN	OMIM:619312
HP:0001761	Pes cavus	127833	SYT2	OMIM:616040
HP:0001761	Pes cavus	127833	SYT2	ORPHA:98914
HP:0001761	Pes cavus	80207	OPA3	ORPHA:67036
HP:0001761	Pes cavus	6683	SPAST	ORPHA:100985
HP:0001761	Pes cavus	9420	CYP7B1	ORPHA:100986
HP:0001761	Pes cavus	9420	CYP7B1	OMIM:270800
HP:0001761	Pes cavus	112	ADCY6	OMIM:616287
HP:0001761	Pes cavus	23345	SYNE1	ORPHA:88644
HP:0001761	Pes cavus	23345	SYNE1	OMIM:610743
HP:0001761	Pes cavus	123606	NIPA1	ORPHA:100988
HP:0001761	Pes cavus	123606	NIPA1	OMIM:600363
HP:0001761	Pes cavus	1305	COL13A1	OMIM:616720
HP:0001761	Pes cavus	1305	COL13A1	ORPHA:98914
HP:0001761	Pes cavus	79912	PYROXD1	OMIM:617258
HP:0001761	Pes cavus	26580	BSCL2	ORPHA:139536
HP:0001761	Pes cavus	26580	BSCL2	OMIM:619112
HP:0001761	Pes cavus	26580	BSCL2	OMIM:270685
HP:0001761	Pes cavus	9256	TSPOAP1	ORPHA:101150
HP:0001761	Pes cavus	7054	TH	ORPHA:101150
HP:0001761	Pes cavus	3315	HSPB1	OMIM:606595
HP:0001761	Pes cavus	10516	FBLN5	OMIM:608895
HP:0001761	Pes cavus	2706	GJB2	OMIM:602540
HP:0001761	Pes cavus	2706	GJB2	OMIM:148210
HP:0001761	Pes cavus	9150	CTDP1	OMIM:604168
HP:0001761	Pes cavus	2581	GALC	ORPHA:206443
HP:0001761	Pes cavus	2581	GALC	ORPHA:206448
HP:0001761	Pes cavus	5610	EIF2AK2	OMIM:619687
HP:0001761	Pes cavus	5264	PHYH	OMIM:266500
HP:0001761	Pes cavus	5264	PHYH	ORPHA:773
HP:0001761	Pes cavus	6652	SORD	OMIM:618912
HP:0001761	Pes cavus	80347	COASY	OMIM:615643
HP:0001761	Pes cavus	56997	COQ8A	OMIM:612016
HP:0001761	Pes cavus	3035	HARS1	ORPHA:488333
HP:0001761	Pes cavus	3035	HARS1	OMIM:616625
HP:0001761	Pes cavus	90678	LRSAM1	OMIM:614436
HP:0001761	Pes cavus	3897	L1CAM	OMIM:303350
HP:0001761	Pes cavus	4131	MAP1B	OMIM:618918
HP:0001761	Pes cavus	64135	IFIH1	OMIM:182250
HP:0001761	Pes cavus	10059	DNM1L	ORPHA:98673
HP:0001761	Pes cavus	4976	OPA1	ORPHA:98673
HP:0001761	Pes cavus	4976	OPA1	ORPHA:1215
HP:0001761	Pes cavus	114548	NLRP3	ORPHA:575
HP:0001761	Pes cavus	4204	MECP2	OMIM:300055
HP:0001761	Pes cavus	8888	MCM3AP	OMIM:618124
HP:0001761	Pes cavus	2200	FBN1	OMIM:154700
HP:0001761	Pes cavus	182	JAG1	OMIM:619574
HP:0001761	Pes cavus	859	CAV3	OMIM:614321
HP:0001761	Pes cavus	859	CAV3	ORPHA:488650
HP:0001761	Pes cavus	64856	VWA1	OMIM:619216
HP:0001761	Pes cavus	91137	SLC25A46	OMIM:616505
HP:0001761	Pes cavus	9361	LONP1	ORPHA:79243
HP:0001761	Pes cavus	5160	PDHA1	ORPHA:79243
HP:0001761	Pes cavus	23203	PMPCA	OMIM:213200
HP:0001761	Pes cavus	4547	MTTP	ORPHA:14
HP:0001761	Pes cavus	7703	PCGF2	OMIM:618371
HP:0001761	Pes cavus	112812	FDX2	OMIM:251900
HP:0001761	Pes cavus	26040	SETBP1	OMIM:616078
HP:0001761	Pes cavus	64423	INF2	OMIM:614455
HP:0001761	Pes cavus	7453	WARS1	OMIM:617721
HP:0001761	Pes cavus	9531	BAG3	OMIM:612954
HP:0001761	Pes cavus	87178	PNPT1	ORPHA:101111
HP:0001761	Pes cavus	87178	PNPT1	OMIM:608703
HP:0001761	Pes cavus	65260	COA7	OMIM:618387
HP:0001761	Pes cavus	145173	B3GLCT	OMIM:261540
HP:0001761	Pes cavus	4929	NR4A2	ORPHA:98808
HP:0001761	Pes cavus	3615	IMPDH2	ORPHA:98808
HP:0001761	Pes cavus	1778	DYNC1H1	OMIM:614228
HP:0001761	Pes cavus	4361	MRE11	ORPHA:251347
HP:0001761	Pes cavus	3032	HADHB	ORPHA:746
HP:0001761	Pes cavus	3030	HADHA	ORPHA:746
HP:0001761	Pes cavus	29926	GMPPA	ORPHA:869
HP:0001761	Pes cavus	60684	TRAPPC11	ORPHA:869
HP:0001761	Pes cavus	8086	AAAS	ORPHA:869
HP:0001761	Pes cavus	5293	PIK3CD	ORPHA:221139
HP:0001761	Pes cavus	90417	KNSTRN	ORPHA:221139
HP:0001761	Pes cavus	7507	XPA	OMIM:278700
HP:0001761	Pes cavus	26047	CNTNAP2	ORPHA:163681
HP:0001761	Pes cavus	9829	DNAJC6	ORPHA:391411
HP:0001761	Pes cavus	5420	PODXL	ORPHA:391411
HP:0001761	Pes cavus	8867	SYNJ1	ORPHA:391411
HP:0001761	Pes cavus	23556	PIGN	ORPHA:280633
HP:0001761	Pes cavus	476	ATP1A1	OMIM:618036
HP:0001761	Pes cavus	5375	PMP2	OMIM:618279
HP:0001761	Pes cavus	23230	VPS13A	OMIM:200150
HP:0001761	Pes cavus	219285	SAMD9L	OMIM:619806
HP:0001761	Pes cavus	3295	HSD17B4	OMIM:233400
HP:0001761	Pes cavus	4649	MYO9A	ORPHA:98914
HP:0001761	Pes cavus	1103	CHAT	ORPHA:98914
HP:0001761	Pes cavus	375790	AGRN	ORPHA:98914
HP:0001761	Pes cavus	6572	SLC18A3	ORPHA:98914
HP:0001761	Pes cavus	6616	SNAP25	ORPHA:98914
HP:0001761	Pes cavus	3710	ITPR3	OMIM:620111
HP:0001761	Pes cavus	2799	GNS	OMIM:252940
HP:0001761	Pes cavus	9516	LITAF	OMIM:601098
HP:0001761	Pes cavus	2273	FHL1	OMIM:300280
HP:0001761	Pes cavus	26278	SACS	OMIM:270550
HP:0001761	Pes cavus	10558	SPTLC1	OMIM:162400
HP:0001761	Pes cavus	10084	PQBP1	OMIM:309500
HP:0001761	Pes cavus	54888	NSUN2	OMIM:611091
HP:0001761	Pes cavus	3920	LAMP2	OMIM:300257
HP:0001761	Pes cavus	7518	XRCC4	OMIM:616541
HP:0001761	Pes cavus	89970	RSPRY1	ORPHA:457395
HP:0001761	Pes cavus	81545	FBXO38	OMIM:615575
HP:0001761	Pes cavus	5354	PLP1	OMIM:312920
HP:0001761	Pes cavus	8139	GAN	ORPHA:643
HP:0001761	Pes cavus	8139	GAN	OMIM:256850
HP:0001761	Pes cavus	54936	ADPRS	OMIM:618170
HP:0001761	Pes cavus	126129	CPT1C	ORPHA:444099
HP:0001761	Pes cavus	3839	KPNA3	ORPHA:171612
HP:0001761	Pes cavus	101929726	MYMX	OMIM:619941
HP:0001761	Pes cavus	16	AARS1	OMIM:613287
HP:0001761	Pes cavus	55753	OGDHL	OMIM:619701
HP:0001761	Pes cavus	9570	GOSR2	OMIM:614018
HP:0001761	Pes cavus	9935	MAFB	OMIM:166300
HP:0001761	Pes cavus	50846	DHH	ORPHA:168563
HP:0008094	Widely spaced toes	1832	DSP	OMIM:609638
HP:0008094	Widely spaced toes	84295	PHF6	OMIM:301900
HP:0008094	Widely spaced toes	1788	DNMT3A	ORPHA:404443
HP:0008078	Thin metatarsal cortices	4313	MMP2	OMIM:259600
HP:0008080	Hallux varus	2254	FGF9	OMIM:612961
HP:0008080	Hallux varus	2260	FGFR1	OMIM:123150
HP:0008080	Hallux varus	2260	FGFR1	ORPHA:93258
HP:0008080	Hallux varus	2263	FGFR2	OMIM:123150
HP:0008080	Hallux varus	2263	FGFR2	ORPHA:93260
HP:0008080	Hallux varus	2263	FGFR2	ORPHA:93258
HP:0008080	Hallux varus	2263	FGFR2	ORPHA:93259
HP:0008080	Hallux varus	3209	HOXA13	OMIM:140000
HP:0008080	Hallux varus	3209	HOXA13	ORPHA:2438
HP:0008080	Hallux varus	50515	CHST11	OMIM:618167
HP:0008081	Pes valgus	9361	LONP1	OMIM:600373
HP:0008081	Pes valgus	8200	GDF5	OMIM:200700
HP:0008081	Pes valgus	8367	H4C5	OMIM:619950
HP:0008081	Pes valgus	56006	SMG9	OMIM:619995
HP:0008081	Pes valgus	1861	TOR1A	OMIM:618947
HP:0008081	Pes valgus	775	CACNA1C	OMIM:620029
HP:0008081	Pes valgus	2617	GARS1	ORPHA:139536
HP:0008081	Pes valgus	26580	BSCL2	ORPHA:139536
HP:0008081	Pes valgus	65055	REEP1	ORPHA:139536
HP:0008081	Pes valgus	6335	SCN9A	ORPHA:33069
HP:0008081	Pes valgus	6326	SCN2A	ORPHA:33069
HP:0008081	Pes valgus	2554	GABRA1	ORPHA:33069
HP:0008081	Pes valgus	6323	SCN1A	ORPHA:33069
HP:0008081	Pes valgus	6324	SCN1B	ORPHA:33069
HP:0008081	Pes valgus	57526	PCDH19	ORPHA:33069
HP:0008081	Pes valgus	2566	GABRG2	ORPHA:33069
HP:0008081	Pes valgus	1299	COL9A3	OMIM:620022
HP:0008081	Pes valgus	6925	TCF4	ORPHA:2896
HP:0008081	Pes valgus	6925	TCF4	OMIM:610954
HP:0008081	Pes valgus	1303	COL12A1	ORPHA:75840
HP:0008081	Pes valgus	1291	COL6A1	ORPHA:75840
HP:0008081	Pes valgus	1292	COL6A2	ORPHA:75840
HP:0008081	Pes valgus	1293	COL6A3	ORPHA:75840
HP:0008081	Pes valgus	10236	HNRNPR	OMIM:620073
HP:0008081	Pes valgus	10743	RAI1	ORPHA:477817
HP:0008081	Pes valgus	9325	TRIP4	OMIM:617066
HP:0008081	Pes valgus	9325	TRIP4	ORPHA:486815
HP:0008081	Pes valgus	6857	SYT1	ORPHA:522077
HP:0008081	Pes valgus	9578	CDC42BPB	OMIM:619841
HP:0008081	Pes valgus	91869	RFT1	OMIM:612015
HP:0008081	Pes valgus	64093	SMOC1	OMIM:206920
HP:0008081	Pes valgus	93587	TRMT10A	ORPHA:391408
HP:0008081	Pes valgus	84919	PPP1R15B	ORPHA:391408
HP:0008081	Pes valgus	55777	MBD5	OMIM:156200
HP:0008081	Pes valgus	23162	MAPK8IP3	OMIM:618443
HP:0008081	Pes valgus	11014	KDELR2	OMIM:619131
HP:0008081	Pes valgus	84665	MYPN	ORPHA:171881
HP:0008081	Pes valgus	7169	TPM2	ORPHA:171881
HP:0008081	Pes valgus	7170	TPM3	ORPHA:171881
HP:0008081	Pes valgus	9215	LARGE1	OMIM:613154
HP:0008081	Pes valgus	2316	FLNA	ORPHA:1826
HP:0008081	Pes valgus	6885	MAP3K7	ORPHA:1826
HP:0008081	Pes valgus	51322	WAC	ORPHA:466950
HP:0008081	Pes valgus	55107	ANO1	OMIM:620045
HP:0008081	Pes valgus	3098	HK1	ORPHA:99953
HP:0008081	Pes valgus	823	CAPN1	OMIM:616907
HP:0008081	Pes valgus	823	CAPN1	ORPHA:488594
HP:0008081	Pes valgus	22827	PUF60	ORPHA:508488
HP:0008081	Pes valgus	6567	SLC16A2	ORPHA:59
HP:0008081	Pes valgus	101929726	MYMX	OMIM:619941
HP:0008081	Pes valgus	57728	WDR19	OMIM:614378
HP:0008081	Pes valgus	57728	WDR19	OMIM:614376
HP:0008081	Pes valgus	54872	PIGG	ORPHA:488635
HP:0008081	Pes valgus	79628	SH3TC2	ORPHA:99949
HP:0008081	Pes valgus	2783	GNB2	OMIM:619503
HP:0008081	Pes valgus	200734	SPRED2	OMIM:619745
HP:0008081	Pes valgus	9531	BAG3	OMIM:612954
HP:0008081	Pes valgus	2200	FBN1	OMIM:616914
HP:0008082	Medial deviation of the foot	124583	CANT1	OMIM:251450
HP:0008083	2nd-5th toe middle phalangeal hypoplasia	3239	HOXD13	OMIM:186000
HP:0010760	Absent toe	64840	PORCN	OMIM:305600
HP:0010760	Absent toe	7480	WNT10B	OMIM:225300
HP:0010760	Absent toe	10262	SF3B4	OMIM:154400
HP:0010760	Absent toe	7476	WNT7A	OMIM:228930
HP:0010760	Absent toe	7476	WNT7A	ORPHA:2879
HP:0010760	Absent toe	7476	WNT7A	OMIM:276820
HP:0010760	Absent toe	54567	DLL4	OMIM:616589
HP:0010760	Absent toe	64093	SMOC1	OMIM:206920
HP:0010760	Absent toe	64093	SMOC1	ORPHA:1106
HP:0010760	Absent toe	1749	DLX5	OMIM:183600
HP:0010760	Absent toe	4038	LRP4	ORPHA:3258
HP:0010760	Absent toe	324	APC	ORPHA:3258
HP:0010760	Absent toe	2737	GLI3	ORPHA:93322
HP:0010760	Absent toe	59341	TRPV4	OMIM:606835
HP:0010760	Absent toe	5281	PIGF	OMIM:619356
HP:0010760	Absent toe	9241	NOG	ORPHA:140908
HP:0010760	Absent toe	415	ARSL	ORPHA:79345
HP:0010760	Absent toe	3756	KCNH1	OMIM:135500
HP:0010760	Absent toe	55697	VAC14	ORPHA:3472
HP:0010760	Absent toe	727857	BHLHA9	ORPHA:157801
HP:0010760	Absent toe	727857	BHLHA9	OMIM:609432
HP:0010760	Absent toe	4750	NEK1	ORPHA:2751
HP:0010760	Absent toe	51776	MAP3K20	ORPHA:488232
HP:0010760	Absent toe	5744	PTHLH	ORPHA:93387
HP:0010760	Absent toe	3239	HOXD13	ORPHA:93387
HP:0010760	Absent toe	658	BMPR1B	OMIM:112600
HP:0010760	Absent toe	658	BMPR1B	ORPHA:93388
HP:0010760	Absent toe	650	BMP2	OMIM:112600
HP:0010760	Absent toe	90	ACVR1	OMIM:135100
HP:0010760	Absent toe	90	ACVR1	ORPHA:337
HP:0010760	Absent toe	2263	FGFR2	ORPHA:93260
HP:0010760	Absent toe	2263	FGFR2	ORPHA:93258
HP:0010760	Absent toe	2263	FGFR2	ORPHA:93259
HP:0010760	Absent toe	50515	CHST11	OMIM:618167
HP:0010760	Absent toe	4256	MGP	OMIM:245150
HP:0010760	Absent toe	22856	CHSY1	ORPHA:363417
HP:0010760	Absent toe	7994	KAT6A	OMIM:616268
HP:0010760	Absent toe	3209	HOXA13	OMIM:140000
HP:0010760	Absent toe	3209	HOXA13	ORPHA:2438
HP:0010760	Absent toe	2260	FGFR1	ORPHA:93258
HP:0010760	Absent toe	2697	GJA1	ORPHA:2710
HP:0010760	Absent toe	10060	ABCC9	OMIM:239850
HP:0010760	Absent toe	10060	ABCC9	ORPHA:1517
HP:0010760	Absent toe	22827	PUF60	ORPHA:508488
HP:0010760	Absent toe	10815	CPLX1	ORPHA:280
HP:0010760	Absent toe	10815	CPLX1	OMIM:194190
HP:0010760	Absent toe	54872	PIGG	ORPHA:280
HP:0010760	Absent toe	7469	NELFA	ORPHA:280
HP:0010760	Absent toe	1487	CTBP1	ORPHA:280
HP:0010760	Absent toe	1487	CTBP1	OMIM:194190
HP:0010760	Absent toe	3954	LETM1	ORPHA:280
HP:0010760	Absent toe	3954	LETM1	OMIM:194190
HP:0010760	Absent toe	7468	NSD2	ORPHA:280
HP:0010760	Absent toe	7468	NSD2	OMIM:194190
HP:0010760	Absent toe	9775	EIF4A3	OMIM:268305
HP:0010760	Absent toe	2316	FLNA	OMIM:311300
HP:0010760	Absent toe	2316	FLNA	OMIM:304120
HP:0010760	Absent toe	2316	FLNA	ORPHA:90650
HP:0010760	Absent toe	2316	FLNA	ORPHA:90652
HP:0010760	Absent toe	57167	SALL4	ORPHA:959
HP:0010760	Absent toe	53834	FGFRL1	OMIM:194190
HP:0010760	Absent toe	3764	KCNJ8	ORPHA:1517
HP:0010760	Absent toe	2239	GPC4	ORPHA:2662
HP:0010760	Absent toe	3549	IHH	ORPHA:93388
HP:0010760	Absent toe	4920	ROR2	OMIM:113000
HP:0010760	Absent toe	54101	RIPK4	ORPHA:1234
HP:0010760	Absent toe	6299	SALL1	OMIM:107480
HP:0010760	Absent toe	6299	SALL1	ORPHA:857
HP:0010760	Absent toe	51339	DACT1	ORPHA:857
HP:0010760	Absent toe	285203	EOGT	OMIM:615297
HP:0010760	Absent toe	50814	NSDHL	OMIM:308050
HP:0010760	Absent toe	64327	LMBR1	OMIM:200500
HP:0010760	Absent toe	8200	GDF5	OMIM:228900
HP:0010760	Absent toe	3516	RBPJ	OMIM:614814
HP:0010760	Absent toe	3516	RBPJ	ORPHA:974
HP:0010760	Absent toe	4851	NOTCH1	ORPHA:974
HP:0010760	Absent toe	57514	ARHGAP31	ORPHA:974
HP:0010760	Absent toe	57572	DOCK6	ORPHA:974
HP:0010760	Absent toe	4853	NOTCH2	ORPHA:955
HP:0010760	Absent toe	9896	FIG4	OMIM:216340
HP:0010760	Absent toe	4000	LMNA	ORPHA:2229
HP:0010760	Absent toe	6597	SMARCA4	OMIM:614609
HP:0010760	Absent toe	3782	KCNN3	OMIM:618658
HP:0010760	Absent toe	57492	ARID1B	OMIM:135900
HP:0010068	Broad first metatarsal	2260	FGFR1	OMIM:123150
HP:0010068	Broad first metatarsal	2263	FGFR2	OMIM:123150
HP:0010068	Broad first metatarsal	79989	IFT56	OMIM:619534
HP:0010068	Broad first metatarsal	4750	NEK1	ORPHA:2751
HP:0010068	Broad first metatarsal	124583	CANT1	OMIM:251450
HP:0010068	Broad first metatarsal	10060	ABCC9	OMIM:239850
HP:0008087	Nonossified fifth metatarsal	2316	FLNA	OMIM:304120
HP:0011309	Tapered toe	9896	FIG4	OMIM:216340
HP:0011309	Tapered toe	1376	CPT2	OMIM:608836
HP:0011309	Tapered toe	4953	ODC1	ORPHA:544488
HP:0008089	Abnormality of the fifth metatarsal bone	54101	RIPK4	ORPHA:1401
HP:0008089	Abnormality of the fifth metatarsal bone	3239	HOXD13	ORPHA:93409
HP:0008089	Abnormality of the fifth metatarsal bone	6925	TCF4	OMIM:610954
HP:0008089	Abnormality of the fifth metatarsal bone	9578	CDC42BPB	OMIM:619841
HP:0008089	Abnormality of the fifth metatarsal bone	2778	GNAS	ORPHA:79443
HP:0008089	Abnormality of the fifth metatarsal bone	2778	GNAS	ORPHA:79444
HP:0008089	Abnormality of the fifth metatarsal bone	23288	IQCE	OMIM:617642
HP:0008089	Abnormality of the fifth metatarsal bone	341208	HEPHL1	OMIM:261990
HP:0008089	Abnormality of the fifth metatarsal bone	2316	FLNA	OMIM:311300
HP:0008090	Ankylosis of feet small joints	4313	MMP2	OMIM:259600
HP:0010097	Partial duplication of the distal phalanx of the hallux	124583	CANT1	OMIM:251450
HP:0008093	Short 4th toe	23394	ADNP	OMIM:615873
HP:0008093	Short 4th toe	374969	SVBP	OMIM:618569
HP:0008093	Short 4th toe	6926	TBX3	OMIM:181450
HP:0008093	Short 4th toe	1327	COX4I1	OMIM:619060
HP:0008093	Short 4th toe	8936	WASF1	OMIM:618707
HP:0008096	Medially deviated second toe	658	BMPR1B	OMIM:112600
HP:0008096	Medially deviated second toe	8200	GDF5	OMIM:112600
HP:0008096	Medially deviated second toe	650	BMP2	OMIM:112600
HP:0008097	Partial fusion of tarsals	2316	FLNA	OMIM:305620
HP:0001440	Metatarsal synostosis	1836	SLC26A2	ORPHA:93307
HP:0001440	Metatarsal synostosis	3239	HOXD13	ORPHA:93406
HP:0001440	Metatarsal synostosis	2192	FBLN1	OMIM:608180
HP:0001440	Metatarsal synostosis	2254	FGF9	OMIM:612961
HP:0001440	Metatarsal synostosis	6299	SALL1	OMIM:107480
HP:0001440	Metatarsal synostosis	64093	SMOC1	OMIM:206920
HP:0001440	Metatarsal synostosis	5447	POR	ORPHA:95699
HP:0001440	Metatarsal synostosis	51776	MAP3K20	ORPHA:488232
HP:0001831	Short toe	242	ALOX12B	OMIM:242100
HP:0001831	Short toe	59344	ALOXE3	OMIM:242100
HP:0001831	Short toe	1280	COL2A1	OMIM:271700
HP:0001831	Short toe	1280	COL2A1	OMIM:609162
HP:0001831	Short toe	5573	PRKAR1A	ORPHA:950
HP:0001831	Short toe	5573	PRKAR1A	ORPHA:280651
HP:0001831	Short toe	5144	PDE4D	ORPHA:950
HP:0001831	Short toe	5144	PDE4D	ORPHA:280651
HP:0001831	Short toe	5144	PDE4D	ORPHA:439822
HP:0001831	Short toe	7840	ALMS1	ORPHA:64
HP:0001831	Short toe	4882	NPR2	OMIM:602875
HP:0001831	Short toe	10262	SF3B4	OMIM:154400
HP:0001831	Short toe	145173	B3GLCT	OMIM:261540
HP:0001831	Short toe	145173	B3GLCT	ORPHA:709
HP:0001831	Short toe	5593	PRKG2	OMIM:619636
HP:0001831	Short toe	100151683	RNU4ATAC	ORPHA:353298
HP:0001831	Short toe	100151683	RNU4ATAC	OMIM:616651
HP:0001831	Short toe	6023	RMRP	ORPHA:39041
HP:0001831	Short toe	6023	RMRP	OMIM:607095
HP:0001831	Short toe	55636	CHD7	ORPHA:39041
HP:0001831	Short toe	3981	LIG4	ORPHA:39041
HP:0001831	Short toe	5896	RAG1	ORPHA:39041
HP:0001831	Short toe	5897	RAG2	ORPHA:39041
HP:0001831	Short toe	64421	DCLRE1C	ORPHA:39041
HP:0001831	Short toe	100	ADA	ORPHA:39041
HP:0001831	Short toe	3575	IL7R	ORPHA:39041
HP:0001831	Short toe	3561	IL2RG	ORPHA:39041
HP:0001831	Short toe	1788	DNMT3A	ORPHA:404443
HP:0001831	Short toe	6473	SHOX	OMIM:127300
HP:0001831	Short toe	55027	HEATR3	OMIM:620072
HP:0001831	Short toe	79718	TBL1XR1	OMIM:602342
HP:0001831	Short toe	79718	TBL1XR1	ORPHA:487825
HP:0001831	Short toe	4089	SMAD4	OMIM:139210
HP:0001831	Short toe	54928	BPNT2	OMIM:614078
HP:0001831	Short toe	23426	GRIP1	OMIM:617667
HP:0001831	Short toe	1836	SLC26A2	ORPHA:93307
HP:0001831	Short toe	7140	TNNT3	OMIM:618435
HP:0001831	Short toe	25782	RAB3GAP2	OMIM:212720
HP:0001831	Short toe	23384	SPECC1L	ORPHA:1519
HP:0001831	Short toe	4297	KMT2A	OMIM:605130
HP:0001831	Short toe	55650	PIGV	OMIM:239300
HP:0001831	Short toe	9759	HDAC4	OMIM:600430
HP:0001831	Short toe	427	ASAH1	ORPHA:333
HP:0001831	Short toe	2719	GPC3	ORPHA:373
HP:0001831	Short toe	3039	HBA1	ORPHA:98791
HP:0001831	Short toe	3040	HBA2	ORPHA:98791
HP:0001831	Short toe	84295	PHF6	OMIM:301900
HP:0001831	Short toe	84295	PHF6	ORPHA:127
HP:0001831	Short toe	23483	TGDS	OMIM:616145
HP:0001831	Short toe	285203	EOGT	OMIM:615297
HP:0001831	Short toe	55764	IFT122	OMIM:218330
HP:0001831	Short toe	50945	TBX22	ORPHA:921
HP:0001831	Short toe	5745	PTH1R	ORPHA:79106
HP:0001831	Short toe	1717	DHCR7	OMIM:270400
HP:0001831	Short toe	171023	ASXL1	OMIM:605039
HP:0001831	Short toe	9509	ADAMTS2	OMIM:225410
HP:0001831	Short toe	9742	IFT140	OMIM:266920
HP:0001831	Short toe	375056	MIA3	OMIM:619269
HP:0001831	Short toe	57178	ZMIZ1	OMIM:618659
HP:0001831	Short toe	4613	MYCN	OMIM:164280
HP:0001831	Short toe	4853	NOTCH2	ORPHA:955
HP:0001831	Short toe	2313	FLI1	ORPHA:2308
HP:0001831	Short toe	2778	GNAS	OMIM:103580
HP:0001831	Short toe	2690	GHR	ORPHA:633
HP:0001831	Short toe	2879	GPX4	OMIM:250220
HP:0001831	Short toe	5281	PIGF	OMIM:619356
HP:0001831	Short toe	415	ARSL	ORPHA:79345
HP:0001831	Short toe	3756	KCNH1	OMIM:135500
HP:0001831	Short toe	8481	OFD1	OMIM:311200
HP:0001831	Short toe	113246	C12orf57	OMIM:218340
HP:0001831	Short toe	59341	TRPV4	OMIM:606835
HP:0001831	Short toe	2260	FGFR1	OMIM:101600
HP:0001831	Short toe	2263	FGFR2	OMIM:101600
HP:0001831	Short toe	2261	FGFR3	OMIM:602849
HP:0001831	Short toe	6662	SOX9	OMIM:114290
HP:0001831	Short toe	374969	SVBP	OMIM:618569
HP:0001831	Short toe	8936	WASF1	OMIM:618707
HP:0001831	Short toe	9896	FIG4	ORPHA:3472
HP:0001831	Short toe	55697	VAC14	ORPHA:3472
HP:0001831	Short toe	3239	HOXD13	OMIM:186000
HP:0001831	Short toe	23394	ADNP	OMIM:615873
HP:0001831	Short toe	658	BMPR1B	OMIM:112600
HP:0001831	Short toe	658	BMPR1B	ORPHA:93388
HP:0001831	Short toe	8200	GDF5	OMIM:112600
HP:0001831	Short toe	8200	GDF5	ORPHA:93388
HP:0001831	Short toe	650	BMP2	OMIM:112600
HP:0001831	Short toe	90	ACVR1	OMIM:135100
HP:0001831	Short toe	90	ACVR1	ORPHA:337
HP:0001831	Short toe	50515	CHST11	OMIM:618167
HP:0001831	Short toe	4256	MGP	OMIM:245150
HP:0001831	Short toe	22856	CHSY1	ORPHA:363417
HP:0001831	Short toe	7994	KAT6A	OMIM:616268
HP:0001831	Short toe	3209	HOXA13	OMIM:140000
HP:0001831	Short toe	3209	HOXA13	ORPHA:2438
HP:0001831	Short toe	2697	GJA1	ORPHA:2710
HP:0001831	Short toe	10060	ABCC9	OMIM:239850
HP:0001831	Short toe	10060	ABCC9	ORPHA:1517
HP:0001831	Short toe	9241	NOG	OMIM:186500
HP:0001831	Short toe	22827	PUF60	ORPHA:508488
HP:0001831	Short toe	727857	BHLHA9	ORPHA:157801
HP:0001831	Short toe	10815	CPLX1	ORPHA:280
HP:0001831	Short toe	10815	CPLX1	OMIM:194190
HP:0001831	Short toe	54872	PIGG	ORPHA:280
HP:0001831	Short toe	7469	NELFA	ORPHA:280
HP:0001831	Short toe	1487	CTBP1	ORPHA:280
HP:0001831	Short toe	1487	CTBP1	OMIM:194190
HP:0001831	Short toe	3954	LETM1	ORPHA:280
HP:0001831	Short toe	3954	LETM1	OMIM:194190
HP:0001831	Short toe	7468	NSD2	ORPHA:280
HP:0001831	Short toe	7468	NSD2	OMIM:194190
HP:0001831	Short toe	9775	EIF4A3	OMIM:268305
HP:0001831	Short toe	2316	FLNA	OMIM:311300
HP:0001831	Short toe	2316	FLNA	OMIM:304120
HP:0001831	Short toe	2316	FLNA	ORPHA:90650
HP:0001831	Short toe	2316	FLNA	ORPHA:90652
HP:0001831	Short toe	57167	SALL4	ORPHA:959
HP:0001831	Short toe	53834	FGFRL1	OMIM:194190
HP:0001831	Short toe	3764	KCNJ8	ORPHA:1517
HP:0001831	Short toe	2239	GPC4	ORPHA:2662
HP:0001831	Short toe	3549	IHH	ORPHA:93388
HP:0001831	Short toe	2033	EP300	OMIM:613684
HP:0001831	Short toe	6926	TBX3	OMIM:181450
HP:0001831	Short toe	1327	COX4I1	OMIM:619060
HP:0001831	Short toe	3516	RBPJ	OMIM:614814
HP:0001831	Short toe	1859	DYRK1A	ORPHA:268261
HP:5200005	Abnormal pitch	57190	SELENON	ORPHA:324604
HP:5200005	Abnormal pitch	57190	SELENON	OMIM:602771
HP:5200005	Abnormal pitch	4625	MYH7	ORPHA:324604
HP:5200005	Abnormal pitch	7273	TTN	ORPHA:324604
HP:5200005	Abnormal pitch	5034	P4HB	OMIM:112240
HP:5200005	Abnormal pitch	26580	BSCL2	OMIM:269700
HP:5200005	Abnormal pitch	22880	MORC2	OMIM:616688
HP:5200005	Abnormal pitch	22880	MORC2	ORPHA:466768
HP:5200005	Abnormal pitch	3704	ITPA	OMIM:616647
HP:5200005	Abnormal pitch	9719	ADAMTSL2	OMIM:231050
HP:5200005	Abnormal pitch	4591	TRIM37	ORPHA:2576
HP:5200005	Abnormal pitch	4591	TRIM37	OMIM:253250
HP:5200005	Abnormal pitch	2887	GRB10	ORPHA:96182
HP:5200005	Abnormal pitch	4000	LMNA	ORPHA:740
HP:5200005	Abnormal pitch	10269	ZMPSTE24	ORPHA:740
HP:5200005	Abnormal pitch	5932	RBBP8	OMIM:606744
HP:5200005	Abnormal pitch	54453	RIN2	ORPHA:217335
HP:5200005	Abnormal pitch	54453	RIN2	OMIM:613075
HP:5200005	Abnormal pitch	9871	SEC24D	OMIM:616294
HP:5200005	Abnormal pitch	2690	GHR	OMIM:262500
HP:5200005	Abnormal pitch	2690	GHR	ORPHA:633
HP:5200005	Abnormal pitch	10651	MTX2	OMIM:619127
HP:5200005	Abnormal pitch	367	AR	ORPHA:90797
HP:5200005	Abnormal pitch	641	BLM	OMIM:210900
HP:5200005	Abnormal pitch	10847	SRCAP	ORPHA:2044
HP:5200005	Abnormal pitch	50485	SMARCAL1	OMIM:242900
HP:5200005	Abnormal pitch	7486	WRN	OMIM:277700
HP:5200005	Abnormal pitch	9968	MED12	OMIM:305450
HP:5200005	Abnormal pitch	84919	PPP1R15B	OMIM:616817
HP:5200005	Abnormal pitch	84919	PPP1R15B	ORPHA:391408
HP:5200005	Abnormal pitch	93587	TRMT10A	ORPHA:391408
HP:5200005	Abnormal pitch	6777	STAT5B	OMIM:245590
HP:5200005	Abnormal pitch	57492	ARID1B	OMIM:135900
HP:5200005	Abnormal pitch	2332	FMR1	ORPHA:261483
HP:5200005	Abnormal pitch	7518	XRCC4	OMIM:616541
HP:5200005	Abnormal pitch	4193	MDM2	OMIM:618681
HP:5200005	Abnormal pitch	5116	PCNT	ORPHA:2637
HP:5200005	Abnormal pitch	5116	PCNT	OMIM:210720
HP:5200005	Abnormal pitch	51594	NBAS	OMIM:614800
HP:5200005	Abnormal pitch	63901	FAM111A	OMIM:127000
HP:5200005	Abnormal pitch	63901	FAM111A	ORPHA:93325
HP:5200005	Abnormal pitch	3339	HSPG2	OMIM:255800
HP:5200005	Abnormal pitch	3339	HSPG2	ORPHA:800
HP:5200005	Abnormal pitch	2072	ERCC4	OMIM:610965
HP:5200005	Abnormal pitch	9927	MFN2	OMIM:617087
HP:5200005	Abnormal pitch	5424	POLD1	OMIM:615381
HP:5200005	Abnormal pitch	1501	CTNND2	ORPHA:281
HP:5200005	Abnormal pitch	9037	SEMA5A	ORPHA:281
HP:5200005	Abnormal pitch	127833	SYT2	OMIM:619461
HP:5200005	Abnormal pitch	1140	CHRNB1	OMIM:616313
HP:5200005	Abnormal pitch	5000	ORC4	OMIM:613800
HP:5200005	Abnormal pitch	25886	POC1A	OMIM:614813
HP:5200005	Abnormal pitch	871	SERPINH1	OMIM:613848
HP:5200005	Abnormal pitch	3480	IGF1R	OMIM:270450
HP:5200005	Abnormal pitch	23476	BRD4	ORPHA:199
HP:5200005	Abnormal pitch	9126	SMC3	ORPHA:199
HP:5200005	Abnormal pitch	8243	SMC1A	ORPHA:199
HP:5200005	Abnormal pitch	25836	NIPBL	ORPHA:199
HP:5200005	Abnormal pitch	55869	HDAC8	ORPHA:199
HP:5200005	Abnormal pitch	5885	RAD21	ORPHA:199
HP:5200005	Abnormal pitch	27286	SRPX2	ORPHA:163721
HP:5200005	Abnormal pitch	2903	GRIN2A	ORPHA:163721
HP:5200005	Abnormal pitch	7227	TRPS1	OMIM:190350
HP:5200005	Abnormal pitch	2146	EZH2	OMIM:277590
HP:5200005	Abnormal pitch	2146	EZH2	ORPHA:3447
HP:5200005	Abnormal pitch	64324	NSD1	ORPHA:3447
HP:5200005	Abnormal pitch	8726	EED	ORPHA:3447
HP:5200005	Abnormal pitch	23512	SUZ12	ORPHA:3447
HP:5200009	Midline hand movements	9759	HDAC4	OMIM:600430
HP:5200009	Midline hand movements	4001	LMNB1	OMIM:619179
HP:5200009	Midline hand movements	8367	H4C5	OMIM:619950
HP:5200009	Midline hand movements	340533	NEXMIF	OMIM:300912
HP:5200009	Midline hand movements	1859	DYRK1A	ORPHA:268261
HP:5200009	Midline hand movements	1859	DYRK1A	OMIM:614104
HP:5200009	Midline hand movements	6844	VAMP2	OMIM:618760
HP:5200009	Midline hand movements	2770	GNAI1	OMIM:619854
HP:5200009	Midline hand movements	51574	LARP7	ORPHA:319671
HP:5200009	Midline hand movements	26047	CNTNAP2	ORPHA:163681
HP:5200009	Midline hand movements	4247	MGAT2	ORPHA:79329
HP:5200009	Midline hand movements	4247	MGAT2	OMIM:212066
HP:5200009	Midline hand movements	23096	IQSEC2	ORPHA:397933
HP:5200009	Midline hand movements	6792	CDKL5	ORPHA:3095
HP:5200009	Midline hand movements	6792	CDKL5	ORPHA:505652
HP:5200009	Midline hand movements	22854	NTNG1	ORPHA:3095
HP:5200009	Midline hand movements	9568	GABBR2	ORPHA:3095
HP:5200009	Midline hand movements	4204	MECP2	ORPHA:3095
HP:5200009	Midline hand movements	4204	MECP2	OMIM:312750
HP:5200009	Midline hand movements	4204	MECP2	ORPHA:778
HP:5200009	Midline hand movements	8243	SMC1A	ORPHA:3095
HP:5200009	Midline hand movements	774	CACNA1B	OMIM:618497
HP:5200009	Midline hand movements	2902	GRIN1	OMIM:614254
HP:5200009	Midline hand movements	10659	CELF2	OMIM:619561
HP:5200009	Midline hand movements	3745	KCNB1	OMIM:616056
HP:5200009	Midline hand movements	2903	GRIN2A	ORPHA:289266
HP:5200009	Midline hand movements	112939	NACC1	ORPHA:500545
HP:5200009	Midline hand movements	22907	DHX30	OMIM:617804
HP:5200009	Midline hand movements	10472	ZBTB18	OMIM:612337
HP:5200009	Midline hand movements	6304	SATB1	OMIM:619229
HP:5200009	Midline hand movements	8905	AP1S2	OMIM:304340
HP:5200009	Midline hand movements	2891	GRIA2	OMIM:618917
HP:5200010	Abnormal Intonation	57190	SELENON	ORPHA:324604
HP:5200010	Abnormal Intonation	57190	SELENON	OMIM:602771
HP:5200010	Abnormal Intonation	4625	MYH7	ORPHA:324604
HP:5200010	Abnormal Intonation	7273	TTN	ORPHA:324604
HP:5200010	Abnormal Intonation	5034	P4HB	OMIM:112240
HP:5200010	Abnormal Intonation	26580	BSCL2	OMIM:269700
HP:5200010	Abnormal Intonation	22880	MORC2	OMIM:616688
HP:5200010	Abnormal Intonation	22880	MORC2	ORPHA:466768
HP:5200010	Abnormal Intonation	3704	ITPA	OMIM:616647
HP:5200010	Abnormal Intonation	9719	ADAMTSL2	OMIM:231050
HP:5200010	Abnormal Intonation	4591	TRIM37	ORPHA:2576
HP:5200010	Abnormal Intonation	4591	TRIM37	OMIM:253250
HP:5200010	Abnormal Intonation	2887	GRB10	ORPHA:96182
HP:5200010	Abnormal Intonation	4000	LMNA	ORPHA:740
HP:5200010	Abnormal Intonation	10269	ZMPSTE24	ORPHA:740
HP:5200010	Abnormal Intonation	5932	RBBP8	OMIM:606744
HP:5200010	Abnormal Intonation	54453	RIN2	ORPHA:217335
HP:5200010	Abnormal Intonation	54453	RIN2	OMIM:613075
HP:5200010	Abnormal Intonation	9871	SEC24D	OMIM:616294
HP:5200010	Abnormal Intonation	2690	GHR	OMIM:262500
HP:5200010	Abnormal Intonation	2690	GHR	ORPHA:633
HP:5200010	Abnormal Intonation	10651	MTX2	OMIM:619127
HP:5200010	Abnormal Intonation	367	AR	ORPHA:90797
HP:5200010	Abnormal Intonation	641	BLM	OMIM:210900
HP:5200010	Abnormal Intonation	10847	SRCAP	ORPHA:2044
HP:5200010	Abnormal Intonation	50485	SMARCAL1	OMIM:242900
HP:5200010	Abnormal Intonation	7486	WRN	OMIM:277700
HP:5200010	Abnormal Intonation	9968	MED12	OMIM:305450
HP:5200010	Abnormal Intonation	84919	PPP1R15B	OMIM:616817
HP:5200010	Abnormal Intonation	84919	PPP1R15B	ORPHA:391408
HP:5200010	Abnormal Intonation	93587	TRMT10A	ORPHA:391408
HP:5200010	Abnormal Intonation	6777	STAT5B	OMIM:245590
HP:5200010	Abnormal Intonation	57492	ARID1B	OMIM:135900
HP:5200010	Abnormal Intonation	2332	FMR1	ORPHA:261483
HP:5200010	Abnormal Intonation	7518	XRCC4	OMIM:616541
HP:5200010	Abnormal Intonation	4193	MDM2	OMIM:618681
HP:5200010	Abnormal Intonation	5116	PCNT	ORPHA:2637
HP:5200010	Abnormal Intonation	5116	PCNT	OMIM:210720
HP:5200010	Abnormal Intonation	51594	NBAS	OMIM:614800
HP:5200010	Abnormal Intonation	63901	FAM111A	OMIM:127000
HP:5200010	Abnormal Intonation	63901	FAM111A	ORPHA:93325
HP:5200010	Abnormal Intonation	3339	HSPG2	OMIM:255800
HP:5200010	Abnormal Intonation	3339	HSPG2	ORPHA:800
HP:5200010	Abnormal Intonation	2072	ERCC4	OMIM:610965
HP:5200010	Abnormal Intonation	9927	MFN2	OMIM:617087
HP:5200010	Abnormal Intonation	5424	POLD1	OMIM:615381
HP:5200010	Abnormal Intonation	1501	CTNND2	ORPHA:281
HP:5200010	Abnormal Intonation	9037	SEMA5A	ORPHA:281
HP:5200010	Abnormal Intonation	127833	SYT2	OMIM:619461
HP:5200010	Abnormal Intonation	1140	CHRNB1	OMIM:616313
HP:5200010	Abnormal Intonation	5000	ORC4	OMIM:613800
HP:5200010	Abnormal Intonation	25886	POC1A	OMIM:614813
HP:5200010	Abnormal Intonation	871	SERPINH1	OMIM:613848
HP:5200010	Abnormal Intonation	3480	IGF1R	OMIM:270450
HP:5200010	Abnormal Intonation	23476	BRD4	ORPHA:199
HP:5200010	Abnormal Intonation	9126	SMC3	ORPHA:199
HP:5200010	Abnormal Intonation	8243	SMC1A	ORPHA:199
HP:5200010	Abnormal Intonation	25836	NIPBL	ORPHA:199
HP:5200010	Abnormal Intonation	55869	HDAC8	ORPHA:199
HP:5200010	Abnormal Intonation	5885	RAD21	ORPHA:199
HP:5200010	Abnormal Intonation	27286	SRPX2	ORPHA:163721
HP:5200010	Abnormal Intonation	2903	GRIN2A	ORPHA:163721
HP:5200010	Abnormal Intonation	7227	TRPS1	OMIM:190350
HP:5200010	Abnormal Intonation	2146	EZH2	OMIM:277590
HP:5200010	Abnormal Intonation	2146	EZH2	ORPHA:3447
HP:5200010	Abnormal Intonation	64324	NSD1	ORPHA:3447
HP:5200010	Abnormal Intonation	8726	EED	ORPHA:3447
HP:5200010	Abnormal Intonation	23512	SUZ12	ORPHA:3447
HP:5200010	Abnormal Intonation	2629	GBA1	ORPHA:411602
HP:5200010	Abnormal Intonation	23317	DNAJC13	ORPHA:411602
HP:5200010	Abnormal Intonation	1981	EIF4G1	ORPHA:411602
HP:5200010	Abnormal Intonation	55737	VPS35	ORPHA:411602
HP:5200010	Abnormal Intonation	120892	LRRK2	ORPHA:411602
HP:5200010	Abnormal Intonation	26058	GIGYF2	ORPHA:411602
HP:5200010	Abnormal Intonation	6622	SNCA	ORPHA:411602
HP:5200010	Abnormal Intonation	6622	SNCA	ORPHA:171695
HP:5200010	Abnormal Intonation	25793	FBXO7	ORPHA:171695
HP:5200010	Abnormal Intonation	25793	FBXO7	OMIM:260300
HP:5200010	Abnormal Intonation	55280	CWF19L1	ORPHA:453521
HP:5200011	Abnormal speech rate	4137	MAPT	ORPHA:240094
HP:5200016	Abnormal peer relationships	4204	MECP2	OMIM:300496
HP:5200016	Abnormal peer relationships	57502	NLGN4X	OMIM:300495
HP:5200016	Abnormal peer relationships	54413	NLGN3	OMIM:300425
HP:5200016	Abnormal peer relationships	6513	SLC2A1	ORPHA:1942
HP:5200016	Abnormal peer relationships	8831	SYNGAP1	ORPHA:1942
HP:5200016	Abnormal peer relationships	1173	AP2M1	ORPHA:1942
HP:5200016	Abnormal peer relationships	6323	SCN1A	ORPHA:1942
HP:5200016	Abnormal peer relationships	340533	NEXMIF	ORPHA:1942
HP:5200016	Abnormal peer relationships	1106	CHD2	ORPHA:1942
HP:5200016	Abnormal peer relationships	6529	SLC6A1	ORPHA:1942
HP:0005600	Congenital giant melanocytic nevus	4893	NRAS	OMIM:137550
HP:0005600	Congenital giant melanocytic nevus	4893	NRAS	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	3265	HRAS	OMIM:137550
HP:0005600	Congenital giant melanocytic nevus	4157	MC1R	ORPHA:626
HP:0005602	Progressive vitiligo	4683	NBN	OMIM:251260
HP:0005603	Numerous congenital melanocytic nevi	4893	NRAS	OMIM:249400
HP:0005605	Large cafe-au-lait macules with irregular margins	2778	GNAS	ORPHA:562
HP:0005605	Large cafe-au-lait macules with irregular margins	2778	GNAS	OMIM:174800
HP:0005605	Large cafe-au-lait macules with irregular margins	4221	MEN1	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1027	CDKN1B	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1026	CDKN1A	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1030	CDKN2B	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1031	CDKN2C	ORPHA:652
HP:0005607	Abnormal tracheobronchial morphology	374407	DNAJB13	OMIM:617091
HP:0005607	Abnormal tracheobronchial morphology	374407	DNAJB13	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	139212	DNAAF6	OMIM:300991
HP:0005607	Abnormal tracheobronchial morphology	139212	DNAAF6	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	85016	CFAP300	OMIM:618063
HP:0005607	Abnormal tracheobronchial morphology	85016	CFAP300	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	83538	ODAD4	OMIM:617092
HP:0005607	Abnormal tracheobronchial morphology	83538	ODAD4	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	4791	NFKB2	ORPHA:293978
HP:0005607	Abnormal tracheobronchial morphology	4791	NFKB2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	695	BTK	OMIM:300755
HP:0005607	Abnormal tracheobronchial morphology	3071	NCKAP1L	OMIM:618982
HP:0005607	Abnormal tracheobronchial morphology	4683	NBN	OMIM:251260
HP:0005607	Abnormal tracheobronchial morphology	10309	CCNO	OMIM:615872
HP:0005607	Abnormal tracheobronchial morphology	10309	CCNO	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2622	GAS8	OMIM:616726
HP:0005607	Abnormal tracheobronchial morphology	2622	GAS8	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	5238	PGM3	ORPHA:443811
HP:0005607	Abnormal tracheobronchial morphology	5238	PGM3	OMIM:615816
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	OMIM:211400
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6338	SCNN1B	OMIM:211400
HP:0005607	Abnormal tracheobronchial morphology	6338	SCNN1B	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	27148	STK36	OMIM:619436
HP:0005607	Abnormal tracheobronchial morphology	27148	STK36	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	5880	RAC2	OMIM:618986
HP:0005607	Abnormal tracheobronchial morphology	5293	PIK3CD	OMIM:615513
HP:0005607	Abnormal tracheobronchial morphology	987	LRBA	OMIM:614700
HP:0005607	Abnormal tracheobronchial morphology	8737	RIPK1	OMIM:618108
HP:0005607	Abnormal tracheobronchial morphology	6890	TAP1	OMIM:604571
HP:0005607	Abnormal tracheobronchial morphology	6891	TAP2	OMIM:604571
HP:0005607	Abnormal tracheobronchial morphology	6892	TAPBP	OMIM:604571
HP:0005607	Abnormal tracheobronchial morphology	345895	RSPH4A	OMIM:612649
HP:0005607	Abnormal tracheobronchial morphology	345895	RSPH4A	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	9094	UNC119	OMIM:615518
HP:0005607	Abnormal tracheobronchial morphology	54768	HYDIN	OMIM:608647
HP:0005607	Abnormal tracheobronchial morphology	54768	HYDIN	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	89765	RSPH1	OMIM:615481
HP:0005607	Abnormal tracheobronchial morphology	89765	RSPH1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	161582	DNAAF4	OMIM:615482
HP:0005607	Abnormal tracheobronchial morphology	161582	DNAAF4	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6809	STX3	OMIM:619445
HP:0005607	Abnormal tracheobronchial morphology	6809	STX3	OMIM:619446
HP:0005607	Abnormal tracheobronchial morphology	9948	WDR1	OMIM:150550
HP:0005607	Abnormal tracheobronchial morphology	221421	RSPH9	OMIM:612650
HP:0005607	Abnormal tracheobronchial morphology	221421	RSPH9	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	4790	NFKB1	OMIM:616576
HP:0005607	Abnormal tracheobronchial morphology	4790	NFKB1	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	472	ATM	OMIM:208900
HP:0005607	Abnormal tracheobronchial morphology	388389	CCDC103	OMIM:614679
HP:0005607	Abnormal tracheobronchial morphology	388389	CCDC103	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1767	DNAH5	OMIM:608644
HP:0005607	Abnormal tracheobronchial morphology	1767	DNAH5	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	8382	NME5	OMIM:620032
HP:0005607	Abnormal tracheobronchial morphology	6440	SFTPC	OMIM:610913
HP:0005607	Abnormal tracheobronchial morphology	6440	SFTPC	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	2212	FCGR2A	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	7040	TGFB1	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	7040	TGFB1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6340	SCNN1G	OMIM:613071
HP:0005607	Abnormal tracheobronchial morphology	6340	SCNN1G	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	6772	STAT1	OMIM:614162
HP:0005607	Abnormal tracheobronchial morphology	6772	STAT1	ORPHA:391487
HP:0005607	Abnormal tracheobronchial morphology	23495	TNFRSF13B	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	23495	TNFRSF13B	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	115650	TNFRSF13C	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	115650	TNFRSF13C	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	1380	CR2	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	1380	CR2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	OMIM:607594
HP:0005607	Abnormal tracheobronchial morphology	930	CD19	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	930	CD19	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	84061	MAGT1	OMIM:300853
HP:0005607	Abnormal tracheobronchial morphology	123872	DNAAF1	OMIM:613193
HP:0005607	Abnormal tracheobronchial morphology	123872	DNAAF1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	54453	RIN2	OMIM:613075
HP:0005607	Abnormal tracheobronchial morphology	1493	CTLA4	OMIM:616100
HP:0005607	Abnormal tracheobronchial morphology	3394	IRF8	OMIM:226990
HP:0005607	Abnormal tracheobronchial morphology	10379	IRF9	OMIM:618648
HP:0005607	Abnormal tracheobronchial morphology	7852	CXCR4	OMIM:193670
HP:0005607	Abnormal tracheobronchial morphology	7852	CXCR4	ORPHA:51636
HP:0005607	Abnormal tracheobronchial morphology	56244	BTNL2	OMIM:612387
HP:0005607	Abnormal tracheobronchial morphology	56244	BTNL2	ORPHA:797
HP:0005607	Abnormal tracheobronchial morphology	5426	POLE	OMIM:615139
HP:0005607	Abnormal tracheobronchial morphology	54970	TTC12	OMIM:618801
HP:0005607	Abnormal tracheobronchial morphology	54970	TTC12	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	729238	SFTPA2	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	79991	STN1	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	653509	SFTPA1	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	21	ABCA3	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	1832	DSP	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	727897	MUC5B	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	10144	FAM13A	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	23250	ATP11A	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	91039	DPP9	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	51750	RTEL1	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	7012	TERC	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	5073	PARN	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	7015	TERT	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	219972	MPEG1	OMIM:619223
HP:0005607	Abnormal tracheobronchial morphology	567	B2M	OMIM:241600
HP:0005607	Abnormal tracheobronchial morphology	7161	TP73	OMIM:619466
HP:0005607	Abnormal tracheobronchial morphology	254428	SLC41A1	OMIM:619468
HP:0005607	Abnormal tracheobronchial morphology	7174	TPP2	OMIM:619220
HP:0005607	Abnormal tracheobronchial morphology	146206	CARMIL2	OMIM:618131
HP:0005607	Abnormal tracheobronchial morphology	4700	NDUFA6	OMIM:618253
HP:0005607	Abnormal tracheobronchial morphology	115399	LRRC56	OMIM:618254
HP:0005607	Abnormal tracheobronchial morphology	115399	LRRC56	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1729	DIAPH1	OMIM:616632
HP:0005607	Abnormal tracheobronchial morphology	10125	RASGRP1	OMIM:618534
HP:0005607	Abnormal tracheobronchial morphology	8742	TNFSF12	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	5580	PRKCD	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	931	MS4A1	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	975	CD81	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	359948	IRF2BP2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	3123	HLA-DRB1	ORPHA:797
HP:0005607	Abnormal tracheobronchial morphology	3123	HLA-DRB1	OMIM:181000
HP:0005607	Abnormal tracheobronchial morphology	55036	CCDC40	OMIM:613808
HP:0005607	Abnormal tracheobronchial morphology	55036	CCDC40	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	339829	CCDC39	OMIM:613807
HP:0005607	Abnormal tracheobronchial morphology	339829	CCDC39	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	27019	DNAI1	OMIM:244400
HP:0005607	Abnormal tracheobronchial morphology	27019	DNAI1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1789	DNMT3B	OMIM:242860
HP:0005607	Abnormal tracheobronchial morphology	10043	TOM1	ORPHA:391487
HP:0005607	Abnormal tracheobronchial morphology	83861	RSPH3	OMIM:616481
HP:0005607	Abnormal tracheobronchial morphology	83861	RSPH3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	29775	CARD10	OMIM:619632
HP:0005607	Abnormal tracheobronchial morphology	5265	SERPINA1	OMIM:613490
HP:0005607	Abnormal tracheobronchial morphology	5265	SERPINA1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	152110	NEK10	OMIM:618781
HP:0005607	Abnormal tracheobronchial morphology	152110	NEK10	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6337	SCNN1A	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	6337	SCNN1A	OMIM:613021
HP:0005607	Abnormal tracheobronchial morphology	23568	ARL2BP	OMIM:615434
HP:0005607	Abnormal tracheobronchial morphology	5295	PIK3R1	OMIM:616005
HP:0005607	Abnormal tracheobronchial morphology	5295	PIK3R1	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	25981	DNAH1	OMIM:617577
HP:0005607	Abnormal tracheobronchial morphology	25981	DNAH1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	64446	DNAI2	OMIM:612444
HP:0005607	Abnormal tracheobronchial morphology	64446	DNAI2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	54440	SASH3	OMIM:301082
HP:0005607	Abnormal tracheobronchial morphology	2006	ELN	OMIM:123700
HP:0005607	Abnormal tracheobronchial morphology	2006	ELN	ORPHA:90348
HP:0005607	Abnormal tracheobronchial morphology	55719	SLF2	OMIM:620184
HP:0005607	Abnormal tracheobronchial morphology	3507	IGHM	OMIM:601495
HP:0005607	Abnormal tracheobronchial morphology	3507	IGHM	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	6804	STX1A	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	2947	GSTM3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	2729	GCLC	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	1084	CEACAM3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6556	SLC11A1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	51164	DCTN4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3783	KCNN4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	4282	MIF	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	1909	EDNRA	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6550	SLC9A3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3162	HMOX1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	115019	SLC26A9	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3077	HFE	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	11254	SLC6A14	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	22802	CLCA4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	4680	CEACAM6	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	54790	TET2	OMIM:619126
HP:0005607	Abnormal tracheobronchial morphology	60468	BACH2	OMIM:618394
HP:0005607	Abnormal tracheobronchial morphology	641	BLM	OMIM:210900
HP:0005607	Abnormal tracheobronchial morphology	51364	ZMYND10	OMIM:615444
HP:0005607	Abnormal tracheobronchial morphology	51364	ZMYND10	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	50615	IL21R	OMIM:615207
HP:0005607	Abnormal tracheobronchial morphology	8701	DNAH11	OMIM:611884
HP:0005607	Abnormal tracheobronchial morphology	8701	DNAH11	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	10551	AGR2	OMIM:620233
HP:0005607	Abnormal tracheobronchial morphology	85452	CFAP74	OMIM:620197
HP:0005607	Abnormal tracheobronchial morphology	925	CD8A	OMIM:608957
HP:0005607	Abnormal tracheobronchial morphology	84905	ZNF341	OMIM:618282
HP:0005607	Abnormal tracheobronchial morphology	11117	EMILIN1	OMIM:620080
HP:0005607	Abnormal tracheobronchial morphology	5422	POLA1	OMIM:301220
HP:0005607	Abnormal tracheobronchial morphology	92749	DRC1	OMIM:615294
HP:0005607	Abnormal tracheobronchial morphology	92749	DRC1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	55130	ODAD2	OMIM:615451
HP:0005607	Abnormal tracheobronchial morphology	55130	ODAD2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	27040	LAT	OMIM:617514
HP:0005607	Abnormal tracheobronchial morphology	10516	FBLN5	ORPHA:90348
HP:0005607	Abnormal tracheobronchial morphology	5832	ALDH18A1	ORPHA:90348
HP:0005607	Abnormal tracheobronchial morphology	84433	CARD11	OMIM:617638
HP:0005607	Abnormal tracheobronchial morphology	246176	GAS2L2	OMIM:618449
HP:0005607	Abnormal tracheobronchial morphology	246176	GAS2L2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	3514	IGKC	ORPHA:183675
HP:0005607	Abnormal tracheobronchial morphology	3501	IGHG2	ORPHA:183675
HP:0005607	Abnormal tracheobronchial morphology	115948	ODAD3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	115948	ODAD3	OMIM:616037
HP:0005607	Abnormal tracheobronchial morphology	352909	DNAAF3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	352909	DNAAF3	OMIM:606763
HP:0005607	Abnormal tracheobronchial morphology	51314	NME8	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	8481	OFD1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2302	FOXJ1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2302	FOXJ1	OMIM:618699
HP:0005607	Abnormal tracheobronchial morphology	85478	CCDC65	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	85478	CCDC65	OMIM:615504
HP:0005607	Abnormal tracheobronchial morphology	6674	SPAG1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6674	SPAG1	OMIM:615505
HP:0005607	Abnormal tracheobronchial morphology	83544	DNAL1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	83544	DNAL1	OMIM:614017
HP:0005607	Abnormal tracheobronchial morphology	200373	CFAP221	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	55172	DNAAF2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	23639	DNAAF11	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	23639	DNAAF11	OMIM:614935
HP:0005607	Abnormal tracheobronchial morphology	54919	DNAAF5	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6103	RPGR	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	93233	ODAD1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	93233	ODAD1	OMIM:615067
HP:0005607	Abnormal tracheobronchial morphology	345643	MCIDAS	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	345643	MCIDAS	OMIM:618695
HP:0005607	Abnormal tracheobronchial morphology	56683	CFAP298	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	56683	CFAP298	OMIM:615500
HP:0005607	Abnormal tracheobronchial morphology	79925	SPEF2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1770	DNAH9	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6850	SYK	OMIM:619381
HP:0005607	Abnormal tracheobronchial morphology	81704	DOCK8	OMIM:243700
HP:0005607	Abnormal tracheobronchial morphology	10568	SLC34A2	ORPHA:60025
HP:0005607	Abnormal tracheobronchial morphology	10892	MALT1	OMIM:615468
HP:0005607	Abnormal tracheobronchial morphology	96459	FNIP1	OMIM:619705
HP:0005607	Abnormal tracheobronchial morphology	55315	SLC29A3	ORPHA:168569
HP:0005607	Abnormal tracheobronchial morphology	9138	ARHGEF1	OMIM:618459
HP:0005607	Abnormal tracheobronchial morphology	5297	PI4KA	OMIM:619708
HP:0005607	Abnormal tracheobronchial morphology	6929	TCF3	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	973	CD79A	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	974	CD79B	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	3543	IGLL1	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	29760	BLNK	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	56262	LRRC8A	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	2294	FOXF1	OMIM:265380
HP:0005607	Abnormal tracheobronchial morphology	2294	FOXF1	ORPHA:210122
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	OMIM:300514
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	OMIM:314390
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	ORPHA:3412
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10054	UBA2	OMIM:619959
HP:0005607	Abnormal tracheobronchial morphology	7461	CLIP2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	84277	DNAJC30	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	8468	FKBP6	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	5982	RFC2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	2969	GTF2I	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	3984	LIMK1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	9569	GTF2IRD1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	155382	VPS37D	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	155368	METTL27	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	114049	BUD23	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	7458	EIF4H	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	84163	GTF2IRD2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	9275	BCL7B	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	26608	TBL2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	653361	NCF1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	653361	NCF1	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	135886	TMEM270	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	51085	MLXIPL	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	9031	BAZ1B	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	5979	RET	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	8516	ITGA8	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	26281	FGF20	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	2674	GFRA1	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	7484	WNT9B	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	80000	GREB1L	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	6558	SLC12A2	OMIM:619083
HP:0005607	Abnormal tracheobronchial morphology	84172	POLR1B	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	9533	POLR1C	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	51082	POLR1D	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	6949	TCOF1	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	6299	SALL1	OMIM:107480
HP:0005607	Abnormal tracheobronchial morphology	7547	ZIC3	OMIM:314390
HP:0005607	Abnormal tracheobronchial morphology	55788	LMBRD1	OMIM:277380
HP:0005607	Abnormal tracheobronchial morphology	55636	CHD7	ORPHA:138
HP:0005607	Abnormal tracheobronchial morphology	55636	CHD7	OMIM:214800
HP:0005607	Abnormal tracheobronchial morphology	9723	SEMA3E	ORPHA:138
HP:0005607	Abnormal tracheobronchial morphology	1536	CYBB	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	4688	NCF2	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	1535	CYBA	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	4689	NCF4	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	79415	CYBC1	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	6657	SOX2	ORPHA:77298
HP:0005607	Abnormal tracheobronchial morphology	6657	SOX2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	4854	NOTCH3	ORPHA:2591
HP:0005607	Abnormal tracheobronchial morphology	5159	PDGFRB	ORPHA:2591
HP:0005607	Abnormal tracheobronchial morphology	2177	FANCD2	OMIM:227646
HP:0005607	Abnormal tracheobronchial morphology	2177	FANCD2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55120	FANCL	OMIM:614083
HP:0005607	Abnormal tracheobronchial morphology	55120	FANCL	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10606	PAICS	OMIM:619859
HP:0005607	Abnormal tracheobronchial morphology	7476	WNT7A	ORPHA:2879
HP:0005607	Abnormal tracheobronchial morphology	672	BRCA1	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10459	MAD2L2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	7516	XRCC2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	29089	UBE2T	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	675	BRCA2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2175	FANCA	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2176	FANCC	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2178	FANCE	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2188	FANCF	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2189	FANCG	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	5888	RAD51	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	5889	RAD51C	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55159	RFWD3	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	83990	BRIP1	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	57697	FANCM	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	79728	PALB2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	84464	SLX4	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2072	ERCC4	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55215	FANCI	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	80169	CTC1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	26277	TINF2	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55651	NHP2	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	79650	USB1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55135	WRAP53	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	4869	NPM1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55505	NOP10	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	1736	DKC1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	7298	TYMS	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	4613	MYCN	OMIM:164280
HP:0005607	Abnormal tracheobronchial morphology	51729	WBP11	OMIM:619227
HP:0005607	Abnormal tracheobronchial morphology	128674	PROKR2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	6658	SOX3	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	9915	ARNT2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	8820	HESX1	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	5015	OTX2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	2201	FBN2	ORPHA:115
HP:0005607	Abnormal tracheobronchial morphology	699	BUB1	OMIM:620183
HP:0005607	Abnormal tracheobronchial morphology	6023	RMRP	ORPHA:175
HP:0005607	Abnormal tracheobronchial morphology	341640	FREM2	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	80144	FRAS1	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	23426	GRIP1	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	5116	PCNT	ORPHA:2637
HP:0005607	Abnormal tracheobronchial morphology	6885	MAP3K7	OMIM:617137
HP:0005607	Abnormal tracheobronchial morphology	3766	KCNJ10	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	2299	FOXI1	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	5172	SLC26A4	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	9719	ADAMTSL2	OMIM:231050
HP:0005607	Abnormal tracheobronchial morphology	65992	DDRGK1	ORPHA:93352
HP:0005607	Abnormal tracheobronchial morphology	7473	WNT3	ORPHA:3301
HP:0005607	Abnormal tracheobronchial morphology	340419	RSPO2	ORPHA:3301
HP:0005607	Abnormal tracheobronchial morphology	219844	HYLS1	OMIM:236680
HP:0005607	Abnormal tracheobronchial morphology	415	ARSL	ORPHA:79345
HP:0005607	Abnormal tracheobronchial morphology	3239	HOXD13	ORPHA:887
HP:0005607	Abnormal tracheobronchial morphology	10682	EBP	OMIM:302960
HP:0005607	Abnormal tracheobronchial morphology	9839	ZEB2	ORPHA:261537
HP:0005607	Abnormal tracheobronchial morphology	9839	ZEB2	ORPHA:261552
HP:0005607	Abnormal tracheobronchial morphology	1717	DHCR7	ORPHA:818
HP:0005607	Abnormal tracheobronchial morphology	3425	IDUA	OMIM:607015
HP:0005607	Abnormal tracheobronchial morphology	4054	LTBP3	OMIM:617809
HP:0005607	Abnormal tracheobronchial morphology	11146	GLMN	ORPHA:83454
HP:0005607	Abnormal tracheobronchial morphology	139285	AMER1	OMIM:300373
HP:0005607	Abnormal tracheobronchial morphology	126792	B3GALT6	ORPHA:536467
HP:0005607	Abnormal tracheobronchial morphology	23321	TRIM2	OMIM:615490
HP:0005607	Abnormal tracheobronchial morphology	284058	KANSL1	ORPHA:363958
HP:0005607	Abnormal tracheobronchial morphology	284058	KANSL1	ORPHA:363965
HP:0005607	Abnormal tracheobronchial morphology	6125	RPL5	OMIM:612561
HP:0005607	Abnormal tracheobronchial morphology	27125	AFF4	OMIM:616368
HP:0005607	Abnormal tracheobronchial morphology	27125	AFF4	ORPHA:444077
HP:0005607	Abnormal tracheobronchial morphology	5396	PRRX1	OMIM:202650
HP:0005607	Abnormal tracheobronchial morphology	9759	HDAC4	ORPHA:1001
HP:0005607	Abnormal tracheobronchial morphology	5428	POLG	OMIM:203700
HP:0005607	Abnormal tracheobronchial morphology	6662	SOX9	ORPHA:140
HP:0005607	Abnormal tracheobronchial morphology	6662	SOX9	OMIM:114290
HP:0005607	Abnormal tracheobronchial morphology	1280	COL2A1	OMIM:156550
HP:0005607	Abnormal tracheobronchial morphology	80232	WDR26	ORPHA:513456
HP:0005607	Abnormal tracheobronchial morphology	79813	EHMT1	ORPHA:261652
HP:0005607	Abnormal tracheobronchial morphology	58508	KMT2C	ORPHA:261652
HP:0005607	Abnormal tracheobronchial morphology	6628	SNRPB	ORPHA:1393
HP:0005607	Abnormal tracheobronchial morphology	253959	RALGAPA1	OMIM:618797
HP:0005607	Abnormal tracheobronchial morphology	27245	AHDC1	ORPHA:412069
HP:0005607	Abnormal tracheobronchial morphology	4281	MID1	ORPHA:2745
HP:0005607	Abnormal tracheobronchial morphology	8239	USP9X	OMIM:300919
HP:0005607	Abnormal tracheobronchial morphology	79633	FAT4	OMIM:615546
HP:0005607	Abnormal tracheobronchial morphology	79633	FAT4	ORPHA:314679
HP:0005607	Abnormal tracheobronchial morphology	25782	RAB3GAP2	OMIM:212720
HP:0005607	Abnormal tracheobronchial morphology	8642	DCHS1	ORPHA:314679
HP:0005607	Abnormal tracheobronchial morphology	8642	DCHS1	OMIM:601390
HP:0005607	Abnormal tracheobronchial morphology	29072	SETD2	OMIM:620155
HP:0005607	Abnormal tracheobronchial morphology	5077	PAX3	ORPHA:896
HP:0005607	Abnormal tracheobronchial morphology	168667	BMPER	OMIM:608022
HP:0005607	Abnormal tracheobronchial morphology	745	MYRF	OMIM:618280
HP:0005607	Abnormal tracheobronchial morphology	2077	ERF	OMIM:617180
HP:0005607	Abnormal tracheobronchial morphology	2317	FLNB	OMIM:150250
HP:0005607	Abnormal tracheobronchial morphology	5447	POR	OMIM:201750
HP:0005607	Abnormal tracheobronchial morphology	374879	ZNF699	OMIM:619488
HP:0005607	Abnormal tracheobronchial morphology	3572	IL6ST	OMIM:619752
HP:0005607	Abnormal tracheobronchial morphology	4629	MYH11	OMIM:619351
HP:0005607	Abnormal tracheobronchial morphology	8425	LTBP4	OMIM:613177
HP:0005607	Abnormal tracheobronchial morphology	2260	FGFR1	OMIM:101600
HP:0005607	Abnormal tracheobronchial morphology	2263	FGFR2	OMIM:101600
HP:0005607	Abnormal tracheobronchial morphology	7994	KAT6A	OMIM:616268
HP:0005607	Abnormal tracheobronchial morphology	5000	ORC4	OMIM:613800
HP:0005607	Abnormal tracheobronchial morphology	3852	KRT5	ORPHA:79396
HP:0005607	Abnormal tracheobronchial morphology	3861	KRT14	ORPHA:79396
HP:0005607	Abnormal tracheobronchial morphology	3265	HRAS	OMIM:218040
HP:0005607	Abnormal tracheobronchial morphology	23594	ORC6	OMIM:613803
HP:0005607	Abnormal tracheobronchial morphology	222663	SCUBE3	OMIM:619184
HP:0005607	Abnormal tracheobronchial morphology	5879	RAC1	ORPHA:500159
HP:0005607	Abnormal tracheobronchial morphology	5879	RAC1	OMIM:617751
HP:0005607	Abnormal tracheobronchial morphology	51053	GMNN	OMIM:616835
HP:0005607	Abnormal tracheobronchial morphology	3423	IDS	OMIM:309900
HP:0005607	Abnormal tracheobronchial morphology	3930	LBR	OMIM:215140
HP:0005607	Abnormal tracheobronchial morphology	4921	DDR2	OMIM:271665
HP:0005607	Abnormal tracheobronchial morphology	4256	MGP	OMIM:245150
HP:0005607	Abnormal tracheobronchial morphology	6595	SMARCA2	OMIM:619293
HP:0005607	Abnormal tracheobronchial morphology	23765	IL17RA	OMIM:613953
HP:0005607	Abnormal tracheobronchial morphology	3588	IL10RB	OMIM:612567
HP:0005607	Abnormal tracheobronchial morphology	3561	IL2RG	OMIM:312863
HP:0005607	Abnormal tracheobronchial morphology	6901	TAFAZZIN	OMIM:302060
HP:0005607	Abnormal tracheobronchial morphology	79158	GNPTAB	OMIM:252500
HP:0005607	Abnormal tracheobronchial morphology	2137	EXTL3	ORPHA:508533
HP:0005607	Abnormal tracheobronchial morphology	1836	SLC26A2	OMIM:222600
HP:0005607	Abnormal tracheobronchial morphology	4089	SMAD4	OMIM:139210
HP:0005607	Abnormal tracheobronchial morphology	3115	HLA-DPB1	ORPHA:133
HP:0005607	Abnormal tracheobronchial morphology	2314	FLII	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	23096	IQSEC2	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	10743	RAI1	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	10743	RAI1	OMIM:182290
HP:0005607	Abnormal tracheobronchial morphology	10522	DEAF1	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	5071	PRKN	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	3845	KRAS	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	3659	IRF1	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5002	SLC22A18	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	2074	ERCC6	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5290	PIK3CA	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1548	CYP2A6	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	2064	ERBB2	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	356	FASLG	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5519	PPP2R1B	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	841	CASP8	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1326	MAP3K8	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	673	BRAF	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1288	COL4A6	ORPHA:1018
HP:0005607	Abnormal tracheobronchial morphology	1287	COL4A5	ORPHA:1018
HP:0005607	Abnormal tracheobronchial morphology	23065	EMC1	OMIM:616875
HP:0005607	Abnormal tracheobronchial morphology	23065	EMC1	ORPHA:480898
HP:0005607	Abnormal tracheobronchial morphology	3835	KIF22	ORPHA:93360
HP:0005607	Abnormal tracheobronchial morphology	3098	HK1	OMIM:618547
HP:0005607	Abnormal tracheobronchial morphology	8295	TRRAP	OMIM:618454
HP:0005607	Abnormal tracheobronchial morphology	4796	TONSL	OMIM:271510
HP:0005607	Abnormal tracheobronchial morphology	5062	PAK2	OMIM:618458
HP:0005607	Abnormal tracheobronchial morphology	79989	IFT56	OMIM:619534
HP:0005607	Abnormal tracheobronchial morphology	23149	FCHO1	OMIM:619164
HP:0005607	Abnormal tracheobronchial morphology	1956	EGFR	OMIM:616069
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	OMIM:601200
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	OMIM:180295
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	ORPHA:276399
HP:0005607	Abnormal tracheobronchial morphology	9817	KEAP1	ORPHA:276399
HP:0005607	Abnormal tracheobronchial morphology	374654	KIF7	ORPHA:2189
HP:0005608	Bilobate gallbladder	145173	B3GLCT	OMIM:261540
HP:0005608	Bilobate gallbladder	6309	SC5D	OMIM:607330
HP:0005609	Gallbladder dysfunction	410	ARSA	OMIM:250100
HP:5200017	Abnormal movements of face and head	3000	GUCY2D	OMIM:204000
HP:5200017	Abnormal movements of face and head	6121	RPE65	OMIM:204100
HP:5200017	Abnormal movements of face and head	7287	TULP1	OMIM:613843
HP:5200017	Abnormal movements of face and head	23418	CRB1	OMIM:613835
HP:5200017	Abnormal movements of face and head	64802	NMNAT1	OMIM:608553
HP:5200017	Abnormal movements of face and head	5138	PDE2A	OMIM:619150
HP:5200017	Abnormal movements of face and head	55777	MBD5	OMIM:156200
HP:5200017	Abnormal movements of face and head	4204	MECP2	OMIM:300055
HP:5200017	Abnormal movements of face and head	4204	MECP2	OMIM:300260
HP:5200017	Abnormal movements of face and head	4204	MECP2	OMIM:312750
HP:5200017	Abnormal movements of face and head	56992	KIF15	ORPHA:261323
HP:5200017	Abnormal movements of face and head	83696	TRAPPC9	OMIM:613192
HP:5200017	Abnormal movements of face and head	288	ANK3	OMIM:615493
HP:5200017	Abnormal movements of face and head	288	ANK3	ORPHA:356996
HP:5200017	Abnormal movements of face and head	8367	H4C5	OMIM:619950
HP:5200017	Abnormal movements of face and head	340533	NEXMIF	OMIM:300912
HP:5200017	Abnormal movements of face and head	23221	RHOBTB2	OMIM:618004
HP:5200017	Abnormal movements of face and head	3899	AFF3	OMIM:619297
HP:5200017	Abnormal movements of face and head	54517	PUS7	OMIM:618342
HP:5200017	Abnormal movements of face and head	6711	SPTBN1	OMIM:619475
HP:5200017	Abnormal movements of face and head	85358	SHANK3	ORPHA:48652
HP:5200017	Abnormal movements of face and head	85358	SHANK3	OMIM:606232
HP:5200017	Abnormal movements of face and head	816	CAMK2B	OMIM:617799
HP:5200017	Abnormal movements of face and head	3064	HTT	OMIM:617435
HP:5200017	Abnormal movements of face and head	2290	FOXG1	OMIM:613454
HP:5200017	Abnormal movements of face and head	23394	ADNP	OMIM:615873
HP:5200017	Abnormal movements of face and head	781	CACNA2D1	OMIM:620149
HP:5200017	Abnormal movements of face and head	93210	PGAP3	OMIM:615716
HP:5200017	Abnormal movements of face and head	3190	HNRNPK	ORPHA:352665
HP:5200017	Abnormal movements of face and head	3190	HNRNPK	ORPHA:453504
HP:5200017	Abnormal movements of face and head	9839	ZEB2	ORPHA:261537
HP:5200017	Abnormal movements of face and head	9839	ZEB2	ORPHA:261552
HP:5200017	Abnormal movements of face and head	6792	CDKL5	ORPHA:505652
HP:5200017	Abnormal movements of face and head	10087	CERT1	OMIM:616351
HP:5200017	Abnormal movements of face and head	774	CACNA1B	OMIM:618497
HP:5200017	Abnormal movements of face and head	10533	ATG7	OMIM:619422
HP:5200017	Abnormal movements of face and head	1917	EEF1A2	OMIM:616393
HP:5200017	Abnormal movements of face and head	2902	GRIN1	OMIM:614254
HP:5200017	Abnormal movements of face and head	23230	VPS13A	ORPHA:2388
HP:5200017	Abnormal movements of face and head	22907	DHX30	OMIM:617804
HP:5200017	Abnormal movements of face and head	9568	GABBR2	OMIM:617903
HP:5200017	Abnormal movements of face and head	2783	GNB2	OMIM:619503
HP:5200017	Abnormal movements of face and head	10472	ZBTB18	OMIM:612337
HP:5200017	Abnormal movements of face and head	84628	NTNG2	OMIM:618718
HP:5200017	Abnormal movements of face and head	1798	DPAGT1	ORPHA:86309
HP:5200017	Abnormal movements of face and head	374969	SVBP	OMIM:618569
HP:5200017	Abnormal movements of face and head	6638	SNRPN	ORPHA:177907
HP:5200017	Abnormal movements of face and head	57551	TAOK1	OMIM:619575
HP:5200017	Abnormal movements of face and head	10524	KAT5	OMIM:619103
HP:5200017	Abnormal movements of face and head	5281	PIGF	OMIM:619356
HP:5200017	Abnormal movements of face and head	5594	MAPK1	OMIM:619087
HP:5200017	Abnormal movements of face and head	10743	RAI1	OMIM:182290
HP:5200017	Abnormal movements of face and head	7337	UBE3A	ORPHA:98794
HP:5200017	Abnormal movements of face and head	7337	UBE3A	ORPHA:98795
HP:5200017	Abnormal movements of face and head	7337	UBE3A	ORPHA:411511
HP:5200017	Abnormal movements of face and head	4948	OCA2	ORPHA:98794
HP:5200017	Abnormal movements of face and head	2898	GRIK2	OMIM:619580
HP:5200017	Abnormal movements of face and head	22854	NTNG1	ORPHA:3095
HP:5200017	Abnormal movements of face and head	8243	SMC1A	ORPHA:3095
HP:5200017	Abnormal movements of face and head	132158	GLYCTK	OMIM:220120
HP:5200017	Abnormal movements of face and head	57688	ZSWIM6	OMIM:617865
HP:5200017	Abnormal movements of face and head	673	BRAF	OMIM:115150
HP:5200017	Abnormal movements of face and head	1644	DDC	OMIM:608643
HP:5200018	Abnormal movements of the upper extremities	9759	HDAC4	OMIM:600430
HP:5200018	Abnormal movements of the upper extremities	4001	LMNB1	OMIM:619179
HP:5200018	Abnormal movements of the upper extremities	8367	H4C5	OMIM:619950
HP:5200018	Abnormal movements of the upper extremities	340533	NEXMIF	OMIM:300912
HP:5200018	Abnormal movements of the upper extremities	1859	DYRK1A	ORPHA:268261
HP:5200018	Abnormal movements of the upper extremities	1859	DYRK1A	OMIM:614104
HP:5200018	Abnormal movements of the upper extremities	6844	VAMP2	OMIM:618760
HP:5200018	Abnormal movements of the upper extremities	2770	GNAI1	OMIM:619854
HP:5200018	Abnormal movements of the upper extremities	51574	LARP7	ORPHA:319671
HP:5200018	Abnormal movements of the upper extremities	26047	CNTNAP2	ORPHA:163681
HP:5200018	Abnormal movements of the upper extremities	4247	MGAT2	ORPHA:79329
HP:5200018	Abnormal movements of the upper extremities	4247	MGAT2	OMIM:212066
HP:5200018	Abnormal movements of the upper extremities	23096	IQSEC2	ORPHA:397933
HP:5200018	Abnormal movements of the upper extremities	6792	CDKL5	ORPHA:3095
HP:5200018	Abnormal movements of the upper extremities	6792	CDKL5	ORPHA:505652
HP:5200018	Abnormal movements of the upper extremities	22854	NTNG1	ORPHA:3095
HP:5200018	Abnormal movements of the upper extremities	9568	GABBR2	ORPHA:3095
HP:5200018	Abnormal movements of the upper extremities	4204	MECP2	ORPHA:3095
HP:5200018	Abnormal movements of the upper extremities	4204	MECP2	OMIM:312750
HP:5200018	Abnormal movements of the upper extremities	4204	MECP2	ORPHA:778
HP:5200018	Abnormal movements of the upper extremities	8243	SMC1A	ORPHA:3095
HP:5200018	Abnormal movements of the upper extremities	774	CACNA1B	OMIM:618497
HP:5200018	Abnormal movements of the upper extremities	2902	GRIN1	OMIM:614254
HP:5200018	Abnormal movements of the upper extremities	10659	CELF2	OMIM:619561
HP:5200018	Abnormal movements of the upper extremities	3745	KCNB1	OMIM:616056
HP:5200018	Abnormal movements of the upper extremities	2903	GRIN2A	ORPHA:289266
HP:5200018	Abnormal movements of the upper extremities	112939	NACC1	ORPHA:500545
HP:5200018	Abnormal movements of the upper extremities	22907	DHX30	OMIM:617804
HP:5200018	Abnormal movements of the upper extremities	10472	ZBTB18	OMIM:612337
HP:5200018	Abnormal movements of the upper extremities	6304	SATB1	OMIM:619229
HP:5200018	Abnormal movements of the upper extremities	8905	AP1S2	OMIM:304340
HP:5200018	Abnormal movements of the upper extremities	2891	GRIA2	OMIM:618917
HP:5200018	Abnormal movements of the upper extremities	7337	UBE3A	ORPHA:98794
HP:5200018	Abnormal movements of the upper extremities	7337	UBE3A	ORPHA:411511
HP:5200018	Abnormal movements of the upper extremities	4948	OCA2	ORPHA:98794
HP:5200018	Abnormal movements of the upper extremities	1725	DHPS	OMIM:618480
HP:5200018	Abnormal movements of the upper extremities	55777	MBD5	OMIM:156200
HP:5200018	Abnormal movements of the upper extremities	83696	TRAPPC9	OMIM:613192
HP:5200018	Abnormal movements of the upper extremities	8812	CCNK	OMIM:618147
HP:5200018	Abnormal movements of the upper extremities	2332	FMR1	ORPHA:449291
HP:5200018	Abnormal movements of the upper extremities	2332	FMR1	OMIM:300624
HP:5200018	Abnormal movements of the upper extremities	2334	AFF2	OMIM:309548
HP:5200018	Abnormal movements of the upper extremities	2334	AFF2	ORPHA:100973
HP:5200018	Abnormal movements of the upper extremities	23316	CUX2	OMIM:618141
HP:5200018	Abnormal movements of the upper extremities	57680	CHD8	OMIM:615032
HP:5200018	Abnormal movements of the upper extremities	8831	SYNGAP1	ORPHA:544254
HP:5200018	Abnormal movements of the upper extremities	51126	NAA20	OMIM:619717
HP:5200018	Abnormal movements of the upper extremities	8924	HERC2	OMIM:615516
HP:5200018	Abnormal movements of the upper extremities	118987	PDZD8	OMIM:620021
HP:5200018	Abnormal movements of the upper extremities	2898	GRIK2	OMIM:619580
HP:5200018	Abnormal movements of the upper extremities	5575	PRKAR1B	OMIM:619680
HP:5200018	Abnormal movements of the upper extremities	1457	CSNK2A1	OMIM:617062
HP:5200018	Abnormal movements of the upper extremities	122553	TRAPPC6B	OMIM:617862
HP:5200018	Abnormal movements of the upper extremities	80816	ASXL3	OMIM:615485
HP:5200018	Abnormal movements of the upper extremities	80816	ASXL3	ORPHA:352577
HP:5200018	Abnormal movements of the upper extremities	57520	HECW2	OMIM:617268
HP:5200018	Abnormal movements of the upper extremities	53335	BCL11A	OMIM:617101
HP:5200018	Abnormal movements of the upper extremities	3188	HNRNPH2	OMIM:300986
HP:5200018	Abnormal movements of the upper extremities	51111	KMT5B	OMIM:617788
HP:5200018	Abnormal movements of the upper extremities	23152	CIC	OMIM:617600
HP:5200018	Abnormal movements of the upper extremities	4858	NOVA2	OMIM:618859
HP:5200018	Abnormal movements of the upper extremities	23097	CDK19	OMIM:618916
HP:5200019	Abnormal movements of the whole body	57688	ZSWIM6	OMIM:617865
HP:5200019	Abnormal movements of the whole body	10730	YME1L1	OMIM:617302
HP:5200019	Abnormal movements of the whole body	2334	AFF2	ORPHA:100973
HP:5200019	Abnormal movements of the whole body	2334	AFF2	OMIM:309548
HP:5200019	Abnormal movements of the whole body	1798	DPAGT1	ORPHA:86309
HP:5200019	Abnormal movements of the whole body	2783	GNB2	OMIM:619503
HP:5200019	Abnormal movements of the whole body	80232	WDR26	ORPHA:513456
HP:5200019	Abnormal movements of the whole body	56992	KIF15	ORPHA:261323
HP:5200019	Abnormal movements of the whole body	340533	NEXMIF	OMIM:300912
HP:5200019	Abnormal movements of the whole body	10743	RAI1	OMIM:182290
HP:5200024	Abnormal relationship	4204	MECP2	OMIM:300496
HP:5200024	Abnormal relationship	57502	NLGN4X	OMIM:300495
HP:5200024	Abnormal relationship	54413	NLGN3	OMIM:300425
HP:5200024	Abnormal relationship	6513	SLC2A1	ORPHA:1942
HP:5200024	Abnormal relationship	8831	SYNGAP1	ORPHA:1942
HP:5200024	Abnormal relationship	1173	AP2M1	ORPHA:1942
HP:5200024	Abnormal relationship	6323	SCN1A	ORPHA:1942
HP:5200024	Abnormal relationship	340533	NEXMIF	ORPHA:1942
HP:5200024	Abnormal relationship	1106	CHD2	ORPHA:1942
HP:5200024	Abnormal relationship	6529	SLC6A1	ORPHA:1942
HP:0010109	Short hallux	9896	FIG4	ORPHA:3472
HP:0010109	Short hallux	55697	VAC14	ORPHA:3472
HP:0010109	Short hallux	658	BMPR1B	OMIM:112600
HP:0010109	Short hallux	658	BMPR1B	ORPHA:93388
HP:0010109	Short hallux	8200	GDF5	OMIM:112600
HP:0010109	Short hallux	8200	GDF5	ORPHA:93388
HP:0010109	Short hallux	650	BMP2	OMIM:112600
HP:0010109	Short hallux	90	ACVR1	OMIM:135100
HP:0010109	Short hallux	90	ACVR1	ORPHA:337
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93260
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93258
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93259
HP:0010109	Short hallux	50515	CHST11	OMIM:618167
HP:0010109	Short hallux	4256	MGP	OMIM:245150
HP:0010109	Short hallux	22856	CHSY1	ORPHA:363417
HP:0010109	Short hallux	7994	KAT6A	OMIM:616268
HP:0010109	Short hallux	3209	HOXA13	OMIM:140000
HP:0010109	Short hallux	3209	HOXA13	ORPHA:2438
HP:0010109	Short hallux	2260	FGFR1	ORPHA:93258
HP:0010109	Short hallux	2697	GJA1	ORPHA:2710
HP:0010109	Short hallux	10060	ABCC9	OMIM:239850
HP:0010109	Short hallux	10060	ABCC9	ORPHA:1517
HP:0010109	Short hallux	9241	NOG	OMIM:186500
HP:0010109	Short hallux	22827	PUF60	ORPHA:508488
HP:0010109	Short hallux	727857	BHLHA9	ORPHA:157801
HP:0010109	Short hallux	10815	CPLX1	ORPHA:280
HP:0010109	Short hallux	10815	CPLX1	OMIM:194190
HP:0010109	Short hallux	54872	PIGG	ORPHA:280
HP:0010109	Short hallux	7469	NELFA	ORPHA:280
HP:0010109	Short hallux	1487	CTBP1	ORPHA:280
HP:0010109	Short hallux	1487	CTBP1	OMIM:194190
HP:0010109	Short hallux	3954	LETM1	ORPHA:280
HP:0010109	Short hallux	3954	LETM1	OMIM:194190
HP:0010109	Short hallux	7468	NSD2	ORPHA:280
HP:0010109	Short hallux	7468	NSD2	OMIM:194190
HP:0010109	Short hallux	9775	EIF4A3	OMIM:268305
HP:0010109	Short hallux	2316	FLNA	OMIM:311300
HP:0010109	Short hallux	2316	FLNA	OMIM:304120
HP:0010109	Short hallux	2316	FLNA	ORPHA:90650
HP:0010109	Short hallux	2316	FLNA	ORPHA:90652
HP:0010109	Short hallux	57167	SALL4	ORPHA:959
HP:0010109	Short hallux	53834	FGFRL1	OMIM:194190
HP:0010109	Short hallux	3764	KCNJ8	ORPHA:1517
HP:0010109	Short hallux	2239	GPC4	ORPHA:2662
HP:0010109	Short hallux	3549	IHH	ORPHA:93388
HP:0003034	Diaphyseal sclerosis	1436	CSF1R	OMIM:618476
HP:0003034	Diaphyseal sclerosis	2778	GNAS	ORPHA:94089
HP:0003034	Diaphyseal sclerosis	8675	STX16	ORPHA:94089
HP:0003034	Diaphyseal sclerosis	760	CA2	OMIM:259730
HP:0003034	Diaphyseal sclerosis	8600	TNFSF11	OMIM:259710
HP:0003034	Diaphyseal sclerosis	50964	SOST	OMIM:122860
HP:0003034	Diaphyseal sclerosis	7040	TGFB1	OMIM:131300
HP:0003034	Diaphyseal sclerosis	203859	ANO5	OMIM:166260
HP:0003034	Diaphyseal sclerosis	4507	MTAP	OMIM:112250
HP:0005612	Arthrogryposis-like hand anomaly	23389	MED13L	ORPHA:369891
HP:0005612	Arthrogryposis-like hand anomaly	65055	REEP1	OMIM:620011
HP:0001853	Bifid distal phalanx of toe	4920	ROR2	OMIM:268310
HP:0001853	Bifid distal phalanx of toe	55012	PPP2R3C	OMIM:618419
HP:0001853	Bifid distal phalanx of toe	7474	WNT5A	OMIM:180700
HP:0001853	Bifid distal phalanx of toe	1855	DVL1	OMIM:180700
HP:0005617	Bilateral camptodactyly	55628	ZNF407	OMIM:619557
HP:0005617	Bilateral camptodactyly	23219	FBXO28	OMIM:619777
HP:0005617	Bilateral camptodactyly	84265	POLR3GL	OMIM:619234
HP:0005617	Bilateral camptodactyly	64324	NSD1	ORPHA:821
HP:0005617	Bilateral camptodactyly	29072	SETD2	ORPHA:821
HP:0005617	Bilateral camptodactyly	10297	APC2	ORPHA:821
HP:0200053	Hemihypotrophy of lower limb	1947	EFNB1	OMIM:304110
HP:0200053	Hemihypotrophy of lower limb	374879	ZNF699	OMIM:619488
HP:0200053	Hemihypotrophy of lower limb	5718	PSMD12	ORPHA:529962
HP:0200053	Hemihypotrophy of lower limb	2186	BPTF	ORPHA:529962
HP:5200029	Social disinhibition	283489	CHAMP1	OMIM:616579
HP:5200029	Social disinhibition	6595	SMARCA2	OMIM:619293
HP:5200029	Social disinhibition	83479	DDX59	OMIM:174300
HP:5200029	Social disinhibition	6804	STX1A	ORPHA:904
HP:5200029	Social disinhibition	7461	CLIP2	ORPHA:904
HP:5200029	Social disinhibition	84277	DNAJC30	ORPHA:904
HP:5200029	Social disinhibition	8468	FKBP6	ORPHA:904
HP:5200029	Social disinhibition	5982	RFC2	ORPHA:904
HP:5200029	Social disinhibition	2969	GTF2I	ORPHA:904
HP:5200029	Social disinhibition	3984	LIMK1	ORPHA:904
HP:5200029	Social disinhibition	9569	GTF2IRD1	ORPHA:904
HP:5200029	Social disinhibition	155382	VPS37D	ORPHA:904
HP:5200029	Social disinhibition	155368	METTL27	ORPHA:904
HP:5200029	Social disinhibition	114049	BUD23	ORPHA:904
HP:5200029	Social disinhibition	7458	EIF4H	ORPHA:904
HP:5200029	Social disinhibition	84163	GTF2IRD2	ORPHA:904
HP:5200029	Social disinhibition	9275	BCL7B	ORPHA:904
HP:5200029	Social disinhibition	26608	TBL2	ORPHA:904
HP:5200029	Social disinhibition	653361	NCF1	ORPHA:904
HP:5200029	Social disinhibition	135886	TMEM270	ORPHA:904
HP:5200029	Social disinhibition	51085	MLXIPL	ORPHA:904
HP:5200029	Social disinhibition	9031	BAZ1B	ORPHA:904
HP:5200029	Social disinhibition	2006	ELN	ORPHA:904
HP:5200029	Social disinhibition	284058	KANSL1	ORPHA:363965
HP:5200029	Social disinhibition	284058	KANSL1	ORPHA:363958
HP:5200029	Social disinhibition	23389	MED13L	ORPHA:369891
HP:5200029	Social disinhibition	5283	PIGH	OMIM:618010
HP:5200029	Social disinhibition	23126	POGZ	OMIM:616364
HP:0005620	Hypermobility of interphalangeal joints	1281	COL3A1	OMIM:130050
HP:0005620	Hypermobility of interphalangeal joints	22827	PUF60	ORPHA:508498
HP:0005620	Hypermobility of interphalangeal joints	1278	COL1A2	ORPHA:230851
HP:0005620	Hypermobility of interphalangeal joints	9427	ECEL1	OMIM:615065
HP:0005621	Trapezoidal vertebral body	55733	HHAT	OMIM:600092
HP:0005622	Broad long bones	9469	CHST3	OMIM:245600
HP:0005622	Broad long bones	26229	B3GAT3	OMIM:245600
HP:0005622	Broad long bones	2317	FLNB	OMIM:150250
HP:0005622	Broad long bones	26175	LYSET	OMIM:619345
HP:0005622	Broad long bones	6473	SHOX	OMIM:249700
HP:0005622	Broad long bones	4921	DDR2	OMIM:271665
HP:0005622	Broad long bones	1280	COL2A1	OMIM:200610
HP:0005622	Broad long bones	633	BGN	OMIM:300106
HP:0005622	Broad long bones	1301	COL11A1	OMIM:228520
HP:0005622	Broad long bones	55733	HHAT	ORPHA:1422
HP:0005622	Broad long bones	1277	COL1A1	OMIM:166210
HP:0005622	Broad long bones	1278	COL1A2	OMIM:166210
HP:0005622	Broad long bones	2697	GJA1	OMIM:257850
HP:0005622	Broad long bones	3339	HSPG2	ORPHA:1865
HP:0005622	Broad long bones	1836	SLC26A2	ORPHA:56304
HP:0005622	Broad long bones	22827	PUF60	ORPHA:508498
HP:0005622	Broad long bones	4882	NPR2	OMIM:602875
HP:0005622	Broad long bones	83452	RAB33B	OMIM:615222
HP:0005622	Broad long bones	5144	PDE4D	ORPHA:439822
HP:0005622	Broad long bones	5593	PRKG2	OMIM:619636
HP:0005622	Broad long bones	1788	DNMT3A	OMIM:618724
HP:0005622	Broad long bones	64135	IFIH1	OMIM:182250
HP:0005622	Broad long bones	7700	ZNF141	OMIM:615226
HP:0005622	Broad long bones	2316	FLNA	OMIM:311300
HP:0005622	Broad long bones	2137	EXTL3	ORPHA:508533
HP:0005622	Broad long bones	2200	FBN1	OMIM:608328
HP:0005622	Broad long bones	81794	ADAMTS10	OMIM:277600
HP:0005622	Broad long bones	9949	AMMECR1	OMIM:300990
HP:0005622	Broad long bones	3835	KIF22	OMIM:603546
HP:0005622	Broad long bones	100151683	RNU4ATAC	ORPHA:2636
HP:0005622	Broad long bones	126792	B3GALT6	OMIM:609465
HP:0005622	Broad long bones	126792	B3GALT6	OMIM:271640
HP:0005622	Broad long bones	55209	SETD5	ORPHA:404440
HP:0005622	Broad long bones	55209	SETD5	OMIM:615761
HP:0005622	Broad long bones	57459	GATAD2B	ORPHA:363686
HP:0005622	Broad long bones	6595	SMARCA2	OMIM:601358
HP:0005622	Broad long bones	6595	SMARCA2	ORPHA:3051
HP:0005622	Broad long bones	79971	WLS	OMIM:619648
HP:0005622	Broad long bones	388015	RTL1	ORPHA:96334
HP:0005622	Broad long bones	8788	DLK1	ORPHA:96334
HP:0005622	Broad long bones	55384	MEG3	ORPHA:96334
HP:0005622	Broad long bones	25871	NEPRO	OMIM:618853
HP:0005622	Broad long bones	5293	PIK3CD	ORPHA:221139
HP:0005622	Broad long bones	90417	KNSTRN	ORPHA:221139
HP:0005622	Broad long bones	1300	COL10A1	ORPHA:174
HP:0005622	Broad long bones	55764	IFT122	OMIM:218330
HP:0005622	Broad long bones	2778	GNAS	ORPHA:79443
HP:0005622	Broad long bones	10664	CTCF	ORPHA:363611
HP:0005622	Broad long bones	1387	CREBBP	OMIM:180849
HP:0005622	Broad long bones	2033	EP300	OMIM:180849
HP:0005622	Broad long bones	2737	GLI3	OMIM:175700
HP:0005622	Broad long bones	2737	GLI3	ORPHA:380
HP:0005622	Broad long bones	1947	EFNB1	ORPHA:1520
HP:0005622	Broad long bones	64359	NXN	ORPHA:1507
HP:0005622	Broad long bones	4920	ROR2	ORPHA:1507
HP:0005622	Broad long bones	2626	GATA4	ORPHA:251071
HP:0005622	Broad long bones	285362	SUMF1	ORPHA:585
HP:0005622	Broad long bones	650	BMP2	ORPHA:261295
HP:0005622	Broad long bones	23314	SATB2	ORPHA:251019
HP:0005622	Broad long bones	57167	SALL4	ORPHA:959
HP:0005622	Broad long bones	6299	SALL1	ORPHA:857
HP:0005622	Broad long bones	51339	DACT1	ORPHA:857
HP:0005622	Broad long bones	3764	KCNJ8	ORPHA:1517
HP:0005622	Broad long bones	10060	ABCC9	ORPHA:1517
HP:0005622	Broad long bones	2239	GPC4	ORPHA:2662
HP:0005622	Broad long bones	2313	FLI1	ORPHA:2308
HP:0005622	Broad long bones	3239	HOXD13	OMIM:113200
HP:0005622	Broad long bones	2260	FGFR1	OMIM:123150
HP:0005622	Broad long bones	2263	FGFR2	OMIM:123150
HP:0005622	Broad long bones	57728	WDR19	OMIM:614378
HP:0005622	Broad long bones	5728	PTEN	ORPHA:79076
HP:0005622	Broad long bones	657	BMPR1A	ORPHA:79076
HP:0005622	Broad long bones	6792	CDKL5	ORPHA:1934
HP:0005622	Broad long bones	3736	KCNA1	ORPHA:1934
HP:0005622	Broad long bones	9091	PIGQ	ORPHA:1934
HP:0005622	Broad long bones	2775	GNAO1	ORPHA:1934
HP:0005622	Broad long bones	81603	TRIM8	ORPHA:1934
HP:0005622	Broad long bones	2902	GRIN1	ORPHA:1934
HP:0005622	Broad long bones	79751	SLC25A22	ORPHA:1934
HP:0005622	Broad long bones	150094	SIK1	ORPHA:1934
HP:0005622	Broad long bones	8573	CASK	ORPHA:1934
HP:0005622	Broad long bones	23312	DMXL2	ORPHA:1934
HP:0005622	Broad long bones	2917	GRM7	ORPHA:1934
HP:0005622	Broad long bones	170302	ARX	ORPHA:1934
HP:0005622	Broad long bones	11284	PNKP	ORPHA:1934
HP:0005622	Broad long bones	6326	SCN2A	ORPHA:1934
HP:0005622	Broad long bones	51227	PIGP	ORPHA:1934
HP:0005622	Broad long bones	6324	SCN1B	ORPHA:1934
HP:0005622	Broad long bones	4761	NEUROD2	ORPHA:1934
HP:0005622	Broad long bones	9653	HS2ST1	OMIM:619194
HP:0005622	Broad long bones	81857	MED25	ORPHA:464738
HP:0005622	Broad long bones	7291	TWIST1	ORPHA:794
HP:0005622	Broad long bones	7291	TWIST1	OMIM:180750
HP:0005622	Broad long bones	2261	FGFR3	ORPHA:794
HP:0005622	Broad long bones	2261	FGFR3	OMIM:602849
HP:0005622	Broad long bones	23394	ADNP	ORPHA:404448
HP:0005622	Broad long bones	6910	TBX5	ORPHA:392
HP:0005622	Broad long bones	6477	SIAH1	OMIM:619314
HP:0005622	Broad long bones	10059	DNM1L	OMIM:614388
HP:0005622	Broad long bones	6885	MAP3K7	OMIM:617137
HP:0005622	Broad long bones	6885	MAP3K7	ORPHA:1826
HP:0005622	Broad long bones	9241	NOG	OMIM:184460
HP:0005622	Broad long bones	9241	NOG	ORPHA:3237
HP:0005622	Broad long bones	10847	SRCAP	OMIM:136140
HP:0005622	Broad long bones	3020	H3-3A	OMIM:619720
HP:0005622	Broad long bones	29998	BICRA	OMIM:619325
HP:0005622	Broad long bones	3021	H3-3B	OMIM:619721
HP:0005622	Broad long bones	1855	DVL1	OMIM:616331
HP:0005622	Broad long bones	1855	DVL1	OMIM:180700
HP:0005622	Broad long bones	8239	USP9X	OMIM:300919
HP:0005622	Broad long bones	3248	HPGD	ORPHA:217059
HP:0005622	Broad long bones	176	ACAN	OMIM:612813
HP:0005622	Broad long bones	176	ACAN	ORPHA:171866
HP:0005622	Broad long bones	51132	RLIM	OMIM:300978
HP:0005622	Broad long bones	92579	G6PC3	OMIM:612541
HP:0005622	Broad long bones	64131	XYLT1	OMIM:615777
HP:0005622	Broad long bones	64131	XYLT1	ORPHA:370930
HP:0005622	Broad long bones	29920	PYCR2	ORPHA:481152
HP:0005622	Broad long bones	64093	SMOC1	ORPHA:1106
HP:0005622	Broad long bones	8726	EED	OMIM:617561
HP:0005622	Broad long bones	8726	EED	ORPHA:3447
HP:0005622	Broad long bones	5718	PSMD12	ORPHA:529962
HP:0005622	Broad long bones	2186	BPTF	ORPHA:529962
HP:0005622	Broad long bones	4212	MEIS2	OMIM:600987
HP:0005622	Broad long bones	1954	MEGF8	OMIM:614976
HP:0005622	Broad long bones	1954	MEGF8	ORPHA:65759
HP:0005622	Broad long bones	51715	RAB23	ORPHA:65759
HP:0005622	Broad long bones	8200	GDF5	ORPHA:3237
HP:0005622	Broad long bones	2254	FGF9	ORPHA:3237
HP:0005622	Broad long bones	2254	FGF9	OMIM:612961
HP:0005622	Broad long bones	3981	LIG4	ORPHA:235
HP:0005622	Broad long bones	54888	NSUN2	ORPHA:235
HP:0005622	Broad long bones	6608	SMO	OMIM:601707
HP:0005622	Broad long bones	6608	SMO	ORPHA:1553
HP:0005622	Broad long bones	23126	POGZ	OMIM:616364
HP:0005622	Broad long bones	51633	OTUD6B	OMIM:617452
HP:0005622	Broad long bones	51633	OTUD6B	ORPHA:505237
HP:0005622	Broad long bones	79753	SNIP1	OMIM:614501
HP:0005622	Broad long bones	9968	MED12	OMIM:309520
HP:0005622	Broad long bones	9968	MED12	OMIM:305450
HP:0005622	Broad long bones	80036	TRPM3	OMIM:620224
HP:0005622	Broad long bones	79759	ZNF668	OMIM:620194
HP:0005622	Broad long bones	10236	HNRNPR	OMIM:620073
HP:0005622	Broad long bones	284252	KCTD1	OMIM:181270
HP:0005622	Broad long bones	1857	DVL3	OMIM:616894
HP:0005622	Broad long bones	8481	OFD1	OMIM:300209
HP:0005622	Broad long bones	56098	PCDHGC4	OMIM:619880
HP:0005622	Broad long bones	3756	KCNH1	ORPHA:420561
HP:0005622	Broad long bones	3756	KCNH1	OMIM:611816
HP:0005622	Broad long bones	2719	GPC3	ORPHA:373
HP:0005622	Broad long bones	2719	GPC3	OMIM:312870
HP:0005622	Broad long bones	4123	MAN2C1	OMIM:619775
HP:0005622	Broad long bones	4488	MSX2	ORPHA:60015
HP:0005622	Broad long bones	60529	ALX4	ORPHA:60015
HP:0005622	Broad long bones	79989	IFT56	OMIM:619534
HP:0005622	Broad long bones	2146	EZH2	OMIM:277590
HP:0005622	Broad long bones	2146	EZH2	ORPHA:3447
HP:0005622	Broad long bones	9939	RBM8A	ORPHA:3320
HP:0005622	Broad long bones	9939	RBM8A	OMIM:274000
HP:0005622	Broad long bones	7474	WNT5A	OMIM:180700
HP:0005622	Broad long bones	64324	NSD1	ORPHA:3447
HP:0005622	Broad long bones	23512	SUZ12	ORPHA:3447
HP:0005622	Broad long bones	23404	EXOSC2	OMIM:617763
HP:0005622	Broad long bones	5587	PRKD1	OMIM:617364
HP:0005622	Broad long bones	2702	GJA5	OMIM:612474
HP:0005622	Broad long bones	2703	GJA8	OMIM:612474
HP:0005622	Broad long bones	55690	PACS1	ORPHA:329224
HP:0005622	Broad long bones	22907	DHX30	OMIM:617804
HP:0005622	Broad long bones	865	CBFB	OMIM:620099
HP:0005622	Broad long bones	10082	GPC6	OMIM:258315
HP:0005622	Broad long bones	3636	INPPL1	ORPHA:3144
HP:0005622	Broad long bones	23169	SLC35D1	ORPHA:3144
HP:0005623	Absent ossification of calvaria	1277	COL1A1	OMIM:166210
HP:0005623	Absent ossification of calvaria	1278	COL1A2	OMIM:166210
HP:0005625	Osteoporosis of vertebrae	29893	PSMC3IP	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	171568	POLR3H	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	2516	NR5A1	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	125150	ZSWIM7	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	9210	BMP15	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	57122	NUP107	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	23514	SPIDR	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	2492	FSHR	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	56945	MRPS22	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	646	BNC1	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	5626	PROP1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5626	PROP1	ORPHA:90695
HP:0005625	Osteoporosis of vertebrae	2736	GLI2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	89884	LHX4	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	3170	FOXA2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5449	POU1F1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	8820	HESX1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5015	OTX2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	860	RUNX2	OMIM:156510
HP:0005625	Osteoporosis of vertebrae	6658	SOX3	ORPHA:90695
HP:0005627	Type D brachydactyly	3239	HOXD13	OMIM:113200
HP:5200044	Reduced attention regulation	3479	IGF1	ORPHA:73272
HP:5200044	Reduced attention regulation	3479	IGF1	OMIM:608747
HP:5200044	Reduced attention regulation	5621	PRNP	ORPHA:282166
HP:5200044	Reduced attention regulation	4558	MT-TF	ORPHA:550
HP:5200044	Reduced attention regulation	4572	MT-TQ	ORPHA:550
HP:5200044	Reduced attention regulation	4512	MT-CO1	ORPHA:550
HP:5200044	Reduced attention regulation	4513	MT-CO2	ORPHA:550
HP:5200044	Reduced attention regulation	4514	MT-CO3	ORPHA:550
HP:5200044	Reduced attention regulation	4578	MT-TW	ORPHA:550
HP:5200044	Reduced attention regulation	4540	MT-ND5	ORPHA:550
HP:5200044	Reduced attention regulation	4541	MT-ND6	ORPHA:550
HP:5200044	Reduced attention regulation	4535	MT-ND1	ORPHA:550
HP:5200044	Reduced attention regulation	4538	MT-ND4	ORPHA:550
HP:5200044	Reduced attention regulation	4567	MT-TL1	ORPHA:550
HP:5200044	Reduced attention regulation	4574	MT-TS1	ORPHA:550
HP:5200044	Reduced attention regulation	4575	MT-TS2	ORPHA:550
HP:5200044	Reduced attention regulation	4564	MT-TH	ORPHA:550
HP:5200044	Reduced attention regulation	339983	NAT8L	OMIM:614063
HP:5200044	Reduced attention regulation	5728	PTEN	OMIM:605309
HP:5200044	Reduced attention regulation	54914	FOCAD	OMIM:619991
HP:5200044	Reduced attention regulation	23345	SYNE1	ORPHA:88644
HP:5200044	Reduced attention regulation	123606	NIPA1	ORPHA:261183
HP:5200044	Reduced attention regulation	7283	TUBG1	ORPHA:261183
HP:5200044	Reduced attention regulation	81614	NIPA2	ORPHA:261183
HP:5200044	Reduced attention regulation	5063	PAK3	OMIM:300558
HP:5200044	Reduced attention regulation	54517	PUS7	OMIM:618342
HP:5200044	Reduced attention regulation	6711	SPTBN1	OMIM:619475
HP:5200044	Reduced attention regulation	1387	CREBBP	OMIM:180849
HP:5200044	Reduced attention regulation	2033	EP300	OMIM:180849
HP:5200044	Reduced attention regulation	1593	CYP27A1	ORPHA:909
HP:5200044	Reduced attention regulation	1213	CLTC	OMIM:617854
HP:5200044	Reduced attention regulation	27286	SRPX2	ORPHA:163721
HP:5200044	Reduced attention regulation	27286	SRPX2	ORPHA:1945
HP:5200044	Reduced attention regulation	2903	GRIN2A	ORPHA:163721
HP:5200044	Reduced attention regulation	2903	GRIN2A	ORPHA:1945
HP:5200044	Reduced attention regulation	2903	GRIN2A	ORPHA:98818
HP:5200044	Reduced attention regulation	11284	PNKP	ORPHA:459033
HP:5200044	Reduced attention regulation	8659	ALDH4A1	ORPHA:79101
HP:5200044	Reduced attention regulation	6335	SCN9A	ORPHA:33069
HP:5200044	Reduced attention regulation	6326	SCN2A	ORPHA:33069
HP:5200044	Reduced attention regulation	2554	GABRA1	ORPHA:33069
HP:5200044	Reduced attention regulation	6323	SCN1A	ORPHA:33069
HP:5200044	Reduced attention regulation	6324	SCN1B	ORPHA:33069
HP:5200044	Reduced attention regulation	57526	PCDH19	ORPHA:33069
HP:5200044	Reduced attention regulation	2566	GABRG2	ORPHA:33069
HP:5200044	Reduced attention regulation	2566	GABRG2	ORPHA:1945
HP:5200044	Reduced attention regulation	4125	MAN2B1	ORPHA:309282
HP:5200044	Reduced attention regulation	51218	GLRX5	ORPHA:401866
HP:5200044	Reduced attention regulation	27086	FOXP1	ORPHA:391372
HP:5200044	Reduced attention regulation	28514	DLL1	ORPHA:280195
HP:5200044	Reduced attention regulation	2253	FGF8	ORPHA:280195
HP:5200044	Reduced attention regulation	6496	SIX3	ORPHA:280195
HP:5200044	Reduced attention regulation	7050	TGIF1	ORPHA:280195
HP:5200044	Reduced attention regulation	4838	NODAL	ORPHA:280195
HP:5200044	Reduced attention regulation	6469	SHH	ORPHA:280195
HP:5200044	Reduced attention regulation	7546	ZIC2	ORPHA:280195
HP:5200044	Reduced attention regulation	6491	STIL	ORPHA:280195
HP:5200044	Reduced attention regulation	2619	GAS1	ORPHA:280195
HP:5200044	Reduced attention regulation	84976	DISP1	ORPHA:280195
HP:5200044	Reduced attention regulation	2736	GLI2	ORPHA:280195
HP:5200044	Reduced attention regulation	8928	FOXH1	ORPHA:280195
HP:5200044	Reduced attention regulation	5727	PTCH1	ORPHA:280195
HP:5200044	Reduced attention regulation	50937	CDON	ORPHA:280195
HP:5200044	Reduced attention regulation	5575	PRKAR1B	ORPHA:412066
HP:5200044	Reduced attention regulation	10157	AASS	ORPHA:2203
HP:5200044	Reduced attention regulation	10157	AASS	OMIM:238700
HP:5200044	Reduced attention regulation	2893	GRIA4	OMIM:617864
HP:5200044	Reduced attention regulation	79048	SECISBP2	ORPHA:171706
HP:5200044	Reduced attention regulation	10847	SRCAP	ORPHA:2044
HP:5200044	Reduced attention regulation	54862	CC2D1A	OMIM:608443
HP:5200044	Reduced attention regulation	51085	MLXIPL	OMIM:194050
HP:5200044	Reduced attention regulation	2006	ELN	OMIM:194050
HP:5200044	Reduced attention regulation	134218	DNAJC21	ORPHA:811
HP:5200044	Reduced attention regulation	79631	EFL1	ORPHA:811
HP:5200044	Reduced attention regulation	51119	SBDS	ORPHA:811
HP:5200044	Reduced attention regulation	6729	SRP54	ORPHA:811
HP:5200044	Reduced attention regulation	3423	IDS	ORPHA:217093
HP:5200044	Reduced attention regulation	410	ARSA	ORPHA:309271
HP:5200044	Reduced attention regulation	410	ARSA	ORPHA:309263
HP:5200044	Reduced attention regulation	5660	PSAP	ORPHA:309271
HP:5200044	Reduced attention regulation	5660	PSAP	ORPHA:309263
HP:5200044	Reduced attention regulation	7337	UBE3A	ORPHA:98794
HP:5200044	Reduced attention regulation	7337	UBE3A	ORPHA:411515
HP:5200044	Reduced attention regulation	4948	OCA2	ORPHA:98794
HP:5200044	Reduced attention regulation	4221	MEN1	ORPHA:652
HP:5200044	Reduced attention regulation	1027	CDKN1B	ORPHA:652
HP:5200044	Reduced attention regulation	1026	CDKN1A	ORPHA:652
HP:5200044	Reduced attention regulation	1030	CDKN2B	ORPHA:652
HP:5200044	Reduced attention regulation	1031	CDKN2C	ORPHA:652
HP:5200044	Reduced attention regulation	55777	MBD5	OMIM:156200
HP:5200044	Reduced attention regulation	7030	TFE3	OMIM:301066
HP:5200044	Reduced attention regulation	57551	TAOK1	OMIM:619575
HP:5200044	Reduced attention regulation	2332	FMR1	ORPHA:449291
HP:5200044	Reduced attention regulation	54496	PRMT7	OMIM:617157
HP:5200044	Reduced attention regulation	55084	SOBP	OMIM:613671
HP:5200044	Reduced attention regulation	215	ABCD1	ORPHA:139396
HP:5200044	Reduced attention regulation	9739	SETD1A	OMIM:619056
HP:5200044	Reduced attention regulation	80204	FBXO11	OMIM:618089
HP:5200044	Reduced attention regulation	10381	TUBB3	ORPHA:300570
HP:5200044	Reduced attention regulation	8398	PLA2G6	ORPHA:35069
HP:5200044	Reduced attention regulation	8398	PLA2G6	OMIM:610217
HP:5200044	Reduced attention regulation	549	AUH	OMIM:250950
HP:5200044	Reduced attention regulation	7080	NKX2-1	ORPHA:209905
HP:5200044	Reduced attention regulation	10079	ATP9A	OMIM:620242
HP:5200044	Reduced attention regulation	4914	NTRK1	ORPHA:642
HP:5200044	Reduced attention regulation	2898	GRIK2	OMIM:619580
HP:5200044	Reduced attention regulation	6595	SMARCA2	OMIM:601358
HP:5200044	Reduced attention regulation	191	AHCY	ORPHA:88618
HP:5200044	Reduced attention regulation	23309	SIN3B	ORPHA:500166
HP:5200044	Reduced attention regulation	25942	SIN3A	ORPHA:500166
HP:5200044	Reduced attention regulation	1760	DMPK	ORPHA:589821
HP:5200044	Reduced attention regulation	84274	COQ5	OMIM:619028
HP:5200044	Reduced attention regulation	4297	KMT2A	ORPHA:319182
HP:5200044	Reduced attention regulation	8802	SUCLG1	ORPHA:17
HP:5200044	Reduced attention regulation	23400	ATP13A2	ORPHA:306674
HP:5200044	Reduced attention regulation	867	CBL	OMIM:613563
HP:5200044	Reduced attention regulation	4281	MID1	ORPHA:2745
HP:5200044	Reduced attention regulation	80208	SPG11	ORPHA:2822
HP:5200044	Reduced attention regulation	5813	PURA	ORPHA:438216
HP:5200044	Reduced attention regulation	23230	VPS13A	ORPHA:2388
HP:5200044	Reduced attention regulation	6304	SATB1	OMIM:619229
HP:5200044	Reduced attention regulation	54832	VPS13C	ORPHA:2828
HP:5200044	Reduced attention regulation	11315	PARK7	ORPHA:2828
HP:5200044	Reduced attention regulation	7345	UCHL1	ORPHA:2828
HP:5200044	Reduced attention regulation	27429	HTRA2	ORPHA:2828
HP:5200044	Reduced attention regulation	120892	LRRK2	ORPHA:2828
HP:5200044	Reduced attention regulation	9829	DNAJC6	ORPHA:2828
HP:5200044	Reduced attention regulation	6622	SNCA	ORPHA:2828
HP:5200044	Reduced attention regulation	5420	PODXL	ORPHA:2828
HP:5200044	Reduced attention regulation	65018	PINK1	ORPHA:2828
HP:5200044	Reduced attention regulation	8867	SYNJ1	ORPHA:2828
HP:5200044	Reduced attention regulation	5071	PRKN	ORPHA:2828
HP:5200044	Reduced attention regulation	161742	SPRED1	ORPHA:137605
HP:5200044	Reduced attention regulation	6638	SNRPN	ORPHA:411515
HP:5200044	Reduced attention regulation	57194	ATP10A	ORPHA:411515
HP:5200044	Reduced attention regulation	4763	NF1	ORPHA:97685
HP:5200044	Reduced attention regulation	128	ADH5	OMIM:619151
HP:5200044	Reduced attention regulation	7528	YY1	ORPHA:506358
HP:5200044	Reduced attention regulation	7528	YY1	OMIM:617557
HP:5200044	Reduced attention regulation	25970	SH2B1	ORPHA:261222
HP:5200044	Reduced attention regulation	25970	SH2B1	ORPHA:261197
HP:5200044	Reduced attention regulation	8036	SHOC2	OMIM:607721
HP:5200044	Reduced attention regulation	6535	SLC6A8	OMIM:300352
HP:5200044	Reduced attention regulation	6513	SLC2A1	ORPHA:64280
HP:5200044	Reduced attention regulation	6513	SLC2A1	ORPHA:1942
HP:5200044	Reduced attention regulation	2562	GABRB3	ORPHA:64280
HP:5200044	Reduced attention regulation	2562	GABRB3	OMIM:617113
HP:5200044	Reduced attention regulation	8912	CACNA1H	ORPHA:64280
HP:5200044	Reduced attention regulation	8629	JRK	ORPHA:64280
HP:5200044	Reduced attention regulation	23394	ADNP	ORPHA:404448
HP:5200044	Reduced attention regulation	23394	ADNP	OMIM:615873
HP:5200044	Reduced attention regulation	26960	NBEA	OMIM:619157
HP:5200044	Reduced attention regulation	8367	H4C5	OMIM:619950
HP:5200044	Reduced attention regulation	1139	CHRNA7	ORPHA:199318
HP:5200044	Reduced attention regulation	1000	CDH2	OMIM:619957
HP:5200044	Reduced attention regulation	1000	CDH2	OMIM:618929
HP:5200044	Reduced attention regulation	1024	CDK8	OMIM:618748
HP:5200044	Reduced attention regulation	775	CACNA1C	OMIM:620029
HP:5200044	Reduced attention regulation	91801	ALKBH8	OMIM:618504
HP:5200044	Reduced attention regulation	7068	THRB	OMIM:274300
HP:5200044	Reduced attention regulation	7068	THRB	OMIM:188570
HP:5200044	Reduced attention regulation	118987	PDZD8	OMIM:620021
HP:5200044	Reduced attention regulation	64324	NSD1	ORPHA:821
HP:5200044	Reduced attention regulation	64324	NSD1	OMIM:117550
HP:5200044	Reduced attention regulation	29072	SETD2	ORPHA:821
HP:5200044	Reduced attention regulation	10297	APC2	ORPHA:821
HP:5200044	Reduced attention regulation	55209	SETD5	ORPHA:404440
HP:5200044	Reduced attention regulation	10093	ARPC4	OMIM:620141
HP:5200044	Reduced attention regulation	6687	SPG7	ORPHA:99013
HP:5200044	Reduced attention regulation	4072	EPCAM	ORPHA:144
HP:5200044	Reduced attention regulation	4292	MLH1	ORPHA:144
HP:5200044	Reduced attention regulation	5395	PMS2	ORPHA:144
HP:5200044	Reduced attention regulation	27030	MLH3	ORPHA:144
HP:5200044	Reduced attention regulation	22909	FAN1	ORPHA:144
HP:5200044	Reduced attention regulation	7048	TGFBR2	ORPHA:144
HP:5200044	Reduced attention regulation	3845	KRAS	ORPHA:144
HP:5200044	Reduced attention regulation	5290	PIK3CA	ORPHA:144
HP:5200044	Reduced attention regulation	2956	MSH6	ORPHA:144
HP:5200044	Reduced attention regulation	5378	PMS1	ORPHA:144
HP:5200044	Reduced attention regulation	4436	MSH2	ORPHA:144
HP:5200044	Reduced attention regulation	49855	SCAPER	OMIM:618195
HP:5200044	Reduced attention regulation	4774	NFIA	ORPHA:401986
HP:5200044	Reduced attention regulation	116931	MED12L	OMIM:618872
HP:5200044	Reduced attention regulation	3199	HOXA2	ORPHA:83463
HP:5200044	Reduced attention regulation	9578	CDC42BPB	OMIM:619841
HP:5200044	Reduced attention regulation	613	BCR	ORPHA:261330
HP:5200044	Reduced attention regulation	1399	CRKL	ORPHA:261330
HP:5200044	Reduced attention regulation	5594	MAPK1	ORPHA:261330
HP:5200044	Reduced attention regulation	5594	MAPK1	OMIM:619087
HP:5200044	Reduced attention regulation	55790	CSGALNACT1	OMIM:618870
HP:5200044	Reduced attention regulation	64218	SEMA4A	ORPHA:440437
HP:5200044	Reduced attention regulation	657	BMPR1A	ORPHA:440437
HP:5200044	Reduced attention regulation	6224	RPS20	ORPHA:440437
HP:5200044	Reduced attention regulation	477	ATP1A2	OMIM:619605
HP:5200044	Reduced attention regulation	477	ATP1A2	ORPHA:442835
HP:5200044	Reduced attention regulation	51111	KMT5B	OMIM:617788
HP:5200044	Reduced attention regulation	80155	NAA15	OMIM:617787
HP:5200044	Reduced attention regulation	7532	YWHAG	OMIM:617665
HP:5200044	Reduced attention regulation	7532	YWHAG	ORPHA:442835
HP:5200044	Reduced attention regulation	10730	YME1L1	OMIM:617302
HP:5200044	Reduced attention regulation	5159	PDGFRB	OMIM:615007
HP:5200044	Reduced attention regulation	2314	FLII	ORPHA:819
HP:5200044	Reduced attention regulation	23096	IQSEC2	ORPHA:819
HP:5200044	Reduced attention regulation	10743	RAI1	ORPHA:819
HP:5200044	Reduced attention regulation	10743	RAI1	ORPHA:1713
HP:5200044	Reduced attention regulation	10522	DEAF1	ORPHA:819
HP:5200044	Reduced attention regulation	5689	PSMB1	OMIM:620038
HP:5200044	Reduced attention regulation	27102	EIF2AK1	OMIM:618878
HP:5200044	Reduced attention regulation	1717	DHCR7	ORPHA:818
HP:5200044	Reduced attention regulation	3781	KCNN2	OMIM:619725
HP:5200044	Reduced attention regulation	7086	TKT	ORPHA:488618
HP:5200044	Reduced attention regulation	7086	TKT	OMIM:617044
HP:5200044	Reduced attention regulation	55636	CHD7	ORPHA:138
HP:5200044	Reduced attention regulation	9723	SEMA3E	ORPHA:138
HP:5200044	Reduced attention regulation	7252	TSHB	ORPHA:90674
HP:5200044	Reduced attention regulation	6660	SOX5	ORPHA:313892
HP:5200044	Reduced attention regulation	57589	RIC1	OMIM:618761
HP:5200044	Reduced attention regulation	535	ATP6V0A1	OMIM:619971
HP:5200044	Reduced attention regulation	3190	HNRNPK	OMIM:616580
HP:5200044	Reduced attention regulation	284058	KANSL1	ORPHA:363958
HP:5200044	Reduced attention regulation	284058	KANSL1	ORPHA:363965
HP:5200044	Reduced attention regulation	347733	TUBB2B	ORPHA:300573
HP:5200044	Reduced attention regulation	347733	TUBB2B	ORPHA:467166
HP:5200044	Reduced attention regulation	340024	SLC6A19	OMIM:234500
HP:5200044	Reduced attention regulation	9968	MED12	ORPHA:93932
HP:5200044	Reduced attention regulation	9968	MED12	OMIM:305450
HP:5200044	Reduced attention regulation	9968	MED12	ORPHA:776
HP:5200044	Reduced attention regulation	51319	RSRC1	OMIM:618402
HP:5200044	Reduced attention regulation	412	STS	ORPHA:281090
HP:5200044	Reduced attention regulation	412	STS	ORPHA:461
HP:5200044	Reduced attention regulation	1009	CDH11	OMIM:619736
HP:5200044	Reduced attention regulation	3973	LHCGR	ORPHA:3000
HP:5200044	Reduced attention regulation	2626	GATA4	ORPHA:251071
HP:5200044	Reduced attention regulation	6899	TBX1	OMIM:188400
HP:5200044	Reduced attention regulation	6899	TBX1	ORPHA:1727
HP:5200044	Reduced attention regulation	6899	TBX1	ORPHA:567
HP:5200044	Reduced attention regulation	26053	AUTS2	ORPHA:352490
HP:5200044	Reduced attention regulation	833	CARS1	OMIM:618891
HP:5200044	Reduced attention regulation	23036	ZNF292	OMIM:619188
HP:5200044	Reduced attention regulation	57178	ZMIZ1	OMIM:618659
HP:5200044	Reduced attention regulation	2260	FGFR1	ORPHA:93924
HP:5200044	Reduced attention regulation	2260	FGFR1	ORPHA:220386
HP:5200044	Reduced attention regulation	26057	ANKRD17	OMIM:619504
HP:5200044	Reduced attention regulation	23007	PLCH1	ORPHA:93925
HP:5200044	Reduced attention regulation	10735	STAG2	ORPHA:93925
HP:5200044	Reduced attention regulation	10735	STAG2	OMIM:301022
HP:5200044	Reduced attention regulation	10735	STAG2	ORPHA:220386
HP:5200044	Reduced attention regulation	3737	KCNA2	ORPHA:442835
HP:5200044	Reduced attention regulation	1759	DNM1	ORPHA:442835
HP:5200044	Reduced attention regulation	8120	AP3B2	ORPHA:442835
HP:5200044	Reduced attention regulation	523	ATP6V1A	ORPHA:442835
HP:5200044	Reduced attention regulation	10991	SLC38A3	ORPHA:442835
HP:5200044	Reduced attention regulation	51343	FZR1	ORPHA:442835
HP:5200044	Reduced attention regulation	22906	TRAK1	ORPHA:442835
HP:5200044	Reduced attention regulation	1917	EEF1A2	ORPHA:442835
HP:5200044	Reduced attention regulation	2561	GABRB2	ORPHA:442835
HP:5200044	Reduced attention regulation	8831	SYNGAP1	ORPHA:442835
HP:5200044	Reduced attention regulation	8831	SYNGAP1	ORPHA:1942
HP:5200044	Reduced attention regulation	79876	UBA5	ORPHA:442835
HP:5200044	Reduced attention regulation	6328	SCN3A	ORPHA:442835
HP:5200044	Reduced attention regulation	6328	SCN3A	OMIM:617935
HP:5200044	Reduced attention regulation	2558	GABRA5	ORPHA:442835
HP:5200044	Reduced attention regulation	781	CACNA2D1	ORPHA:442835
HP:5200044	Reduced attention regulation	2906	GRIN2D	ORPHA:442835
HP:5200044	Reduced attention regulation	116150	NUS1	ORPHA:442835
HP:5200044	Reduced attention regulation	10659	CELF2	ORPHA:442835
HP:5200044	Reduced attention regulation	774	CACNA1B	ORPHA:442835
HP:5200044	Reduced attention regulation	51741	WWOX	ORPHA:442835
HP:5200044	Reduced attention regulation	23334	SZT2	ORPHA:442835
HP:5200044	Reduced attention regulation	51412	ACTL6B	ORPHA:442835
HP:5200044	Reduced attention regulation	348980	HCN1	ORPHA:442835
HP:5200044	Reduced attention regulation	348980	HCN1	OMIM:615871
HP:5200044	Reduced attention regulation	6506	SLC1A2	ORPHA:442835
HP:5200044	Reduced attention regulation	2258	FGF13	ORPHA:442835
HP:5200044	Reduced attention regulation	3745	KCNB1	ORPHA:442835
HP:5200044	Reduced attention regulation	284111	SLC13A5	ORPHA:442835
HP:5200044	Reduced attention regulation	25977	NECAP1	ORPHA:442835
HP:5200044	Reduced attention regulation	16	AARS1	ORPHA:442835
HP:5200044	Reduced attention regulation	6334	SCN8A	ORPHA:442835
HP:5200044	Reduced attention regulation	6334	SCN8A	OMIM:614306
HP:5200044	Reduced attention regulation	22866	CNKSR2	ORPHA:442835
HP:5200044	Reduced attention regulation	22866	CNKSR2	OMIM:301008
HP:5200044	Reduced attention regulation	9568	GABBR2	ORPHA:442835
HP:5200044	Reduced attention regulation	2555	GABRA2	ORPHA:442835
HP:5200044	Reduced attention regulation	55152	DALRD3	ORPHA:442835
HP:5200044	Reduced attention regulation	773	CACNA1A	ORPHA:442835
HP:5200044	Reduced attention regulation	26999	CYFIP2	ORPHA:442835
HP:5200044	Reduced attention regulation	4915	NTRK2	ORPHA:442835
HP:5200044	Reduced attention regulation	25973	PARS2	ORPHA:442835
HP:5200044	Reduced attention regulation	23097	CDK19	ORPHA:442835
HP:5200044	Reduced attention regulation	64801	ARV1	ORPHA:442835
HP:5200044	Reduced attention regulation	79947	DHDDS	ORPHA:442835
HP:5200044	Reduced attention regulation	2257	FGF12	ORPHA:442835
HP:5200044	Reduced attention regulation	5530	PPP3CA	ORPHA:442835
HP:5200044	Reduced attention regulation	478	ATP1A3	ORPHA:442835
HP:5200044	Reduced attention regulation	10528	NOP56	ORPHA:276198
HP:5200044	Reduced attention regulation	3981	LIG4	ORPHA:235
HP:5200044	Reduced attention regulation	54888	NSUN2	ORPHA:235
HP:5200044	Reduced attention regulation	4953	ODC1	OMIM:619075
HP:5200044	Reduced attention regulation	4953	ODC1	ORPHA:544488
HP:5200044	Reduced attention regulation	2746	GLUD1	ORPHA:35878
HP:5200044	Reduced attention regulation	30011	SH3KBP1	OMIM:300310
HP:5200044	Reduced attention regulation	84138	SLC7A6OS	OMIM:619191
HP:5200044	Reduced attention regulation	7025	NR2F1	ORPHA:401777
HP:5200044	Reduced attention regulation	8493	PPM1D	OMIM:617450
HP:5200044	Reduced attention regulation	26038	CHD5	OMIM:619873
HP:5200044	Reduced attention regulation	29081	METTL5	OMIM:618665
HP:5200044	Reduced attention regulation	55773	TBC1D23	OMIM:617695
HP:5200044	Reduced attention regulation	9354	UBE4A	OMIM:619639
HP:5200044	Reduced attention regulation	6804	STX1A	ORPHA:904
HP:5200044	Reduced attention regulation	7461	CLIP2	ORPHA:904
HP:5200044	Reduced attention regulation	84277	DNAJC30	ORPHA:904
HP:5200044	Reduced attention regulation	8468	FKBP6	ORPHA:904
HP:5200044	Reduced attention regulation	5982	RFC2	ORPHA:904
HP:5200044	Reduced attention regulation	2969	GTF2I	ORPHA:904
HP:5200044	Reduced attention regulation	3984	LIMK1	ORPHA:904
HP:5200044	Reduced attention regulation	9569	GTF2IRD1	ORPHA:904
HP:5200044	Reduced attention regulation	155382	VPS37D	ORPHA:904
HP:5200044	Reduced attention regulation	155368	METTL27	ORPHA:904
HP:5200044	Reduced attention regulation	114049	BUD23	ORPHA:904
HP:5200044	Reduced attention regulation	7458	EIF4H	ORPHA:904
HP:5200044	Reduced attention regulation	84163	GTF2IRD2	ORPHA:904
HP:5200044	Reduced attention regulation	9275	BCL7B	ORPHA:904
HP:5200044	Reduced attention regulation	26608	TBL2	ORPHA:904
HP:5200044	Reduced attention regulation	653361	NCF1	ORPHA:904
HP:5200044	Reduced attention regulation	135886	TMEM270	ORPHA:904
HP:5200044	Reduced attention regulation	9031	BAZ1B	ORPHA:904
HP:5200044	Reduced attention regulation	54499	TMCO1	OMIM:213980
HP:5200044	Reduced attention regulation	22859	ADGRL1	OMIM:620065
HP:5200044	Reduced attention regulation	1859	DYRK1A	ORPHA:464311
HP:5200044	Reduced attention regulation	55719	SLF2	OMIM:620184
HP:5200044	Reduced attention regulation	23137	SMC5	OMIM:620185
HP:5200044	Reduced attention regulation	8517	IKBKG	ORPHA:464
HP:5200044	Reduced attention regulation	10236	HNRNPR	OMIM:620073
HP:5200044	Reduced attention regulation	26137	ZBTB20	OMIM:259050
HP:5200044	Reduced attention regulation	2312	FLG	ORPHA:461
HP:5200044	Reduced attention regulation	8314	BAP1	OMIM:619762
HP:5200044	Reduced attention regulation	7750	ZMYM2	OMIM:619522
HP:5200044	Reduced attention regulation	3481	IGF2	ORPHA:397590
HP:5200044	Reduced attention regulation	1028	CDKN1C	ORPHA:397590
HP:5200044	Reduced attention regulation	5324	PLAG1	ORPHA:397590
HP:5200044	Reduced attention regulation	8091	HMGA2	ORPHA:397590
HP:5200044	Reduced attention regulation	23261	CAMTA1	OMIM:614756
HP:5200044	Reduced attention regulation	200424	TET3	OMIM:618798
HP:5200044	Reduced attention regulation	7248	TSC1	OMIM:191100
HP:5200044	Reduced attention regulation	7248	TSC1	ORPHA:805
HP:5200044	Reduced attention regulation	5422	POLA1	ORPHA:163976
HP:5200044	Reduced attention regulation	5422	POLA1	OMIM:301030
HP:5200044	Reduced attention regulation	23314	SATB2	ORPHA:576283
HP:5200044	Reduced attention regulation	23314	SATB2	ORPHA:251019
HP:5200044	Reduced attention regulation	51322	WAC	ORPHA:284169
HP:5200044	Reduced attention regulation	51322	WAC	OMIM:616708
HP:5200044	Reduced attention regulation	51322	WAC	ORPHA:466950
HP:5200044	Reduced attention regulation	55120	FANCL	OMIM:614083
HP:5200044	Reduced attention regulation	9922	IQSEC1	OMIM:618687
HP:5200044	Reduced attention regulation	26047	CNTNAP2	OMIM:610042
HP:5200044	Reduced attention regulation	57479	PRR12	OMIM:619539
HP:5200044	Reduced attention regulation	9928	KIF14	OMIM:617914
HP:5200044	Reduced attention regulation	3458	IFNG	ORPHA:805
HP:5200044	Reduced attention regulation	3458	IFNG	OMIM:613254
HP:5200044	Reduced attention regulation	7249	TSC2	ORPHA:805
HP:5200044	Reduced attention regulation	7249	TSC2	OMIM:613254
HP:5200044	Reduced attention regulation	1107	CHD3	OMIM:618205
HP:5200044	Reduced attention regulation	3339	HSPG2	ORPHA:800
HP:5200044	Reduced attention regulation	1173	AP2M1	ORPHA:1942
HP:5200044	Reduced attention regulation	340533	NEXMIF	ORPHA:1942
HP:5200044	Reduced attention regulation	1106	CHD2	ORPHA:1942
HP:5200044	Reduced attention regulation	6529	SLC6A1	ORPHA:1942
HP:5200044	Reduced attention regulation	6529	SLC6A1	OMIM:616421
HP:5200044	Reduced attention regulation	2776	GNAQ	ORPHA:3205
HP:5200044	Reduced attention regulation	55023	PHIP	ORPHA:589905
HP:5200044	Reduced attention regulation	55023	PHIP	OMIM:617991
HP:5200044	Reduced attention regulation	29123	ANKRD11	OMIM:148050
HP:5200044	Reduced attention regulation	80025	PANK2	ORPHA:216866
HP:5200044	Reduced attention regulation	5587	PRKD1	OMIM:617364
HP:5200044	Reduced attention regulation	2245	FGD1	ORPHA:915
HP:5200044	Reduced attention regulation	2245	FGD1	OMIM:305400
HP:5200044	Reduced attention regulation	1642	DDB1	OMIM:619426
HP:5200044	Reduced attention regulation	63895	PIEZO2	ORPHA:2461
HP:5200044	Reduced attention regulation	196528	ARID2	OMIM:617808
HP:5200044	Reduced attention regulation	1801	DPH1	ORPHA:459061
HP:5200044	Reduced attention regulation	3720	JARID2	OMIM:620098
HP:5200044	Reduced attention regulation	6492	SIM1	ORPHA:369873
HP:5200044	Reduced attention regulation	6909	TBX2	OMIM:618223
HP:5200044	Reduced attention regulation	23013	SPEN	OMIM:619312
HP:5200044	Reduced attention regulation	30000	TNPO2	OMIM:619556
HP:5200044	Reduced attention regulation	57102	C12orf4	OMIM:618221
HP:5200044	Reduced attention regulation	9759	HDAC4	ORPHA:1001
HP:5200044	Reduced attention regulation	3067	HDC	OMIM:137580
HP:5200044	Reduced attention regulation	114798	SLITRK1	OMIM:137580
HP:5200044	Reduced attention regulation	26115	TANC2	OMIM:618906
HP:5200044	Reduced attention regulation	7681	MKRN3	OMIM:176270
HP:5200044	Reduced attention regulation	3653	IPW	OMIM:176270
HP:5200044	Reduced attention regulation	54551	MAGEL2	OMIM:176270
HP:5200044	Reduced attention regulation	791114	PWRN1	OMIM:176270
HP:5200044	Reduced attention regulation	100033413	SNORD116-1	OMIM:176270
HP:5200044	Reduced attention regulation	8924	HERC2	OMIM:176270
HP:5200044	Reduced attention regulation	145624	PWAR1	OMIM:176270
HP:5200044	Reduced attention regulation	23742	NPAP1	OMIM:176270
HP:5200044	Reduced attention regulation	338433	SNORD115-1	OMIM:176270
HP:5200044	Reduced attention regulation	2581	GALC	ORPHA:206443
HP:5200044	Reduced attention regulation	5515	PPP2CA	OMIM:618354
HP:5200044	Reduced attention regulation	56521	DNAJC12	OMIM:617384
HP:5200044	Reduced attention regulation	55262	TRAPPC14	OMIM:618351
HP:5200044	Reduced attention regulation	23030	KDM4B	OMIM:619320
HP:5200044	Reduced attention regulation	473	RERE	OMIM:616975
HP:5200044	Reduced attention regulation	473	RERE	ORPHA:494344
HP:5200044	Reduced attention regulation	11151	CORO1A	OMIM:615401
HP:5200044	Reduced attention regulation	2782	GNB1	OMIM:616973
HP:5200044	Reduced attention regulation	23043	TNIK	OMIM:617028
HP:5200044	Reduced attention regulation	55784	MCTP2	ORPHA:1596
HP:5200044	Reduced attention regulation	5053	PAH	OMIM:261600
HP:5200044	Reduced attention regulation	5053	PAH	ORPHA:79254
HP:5200044	Reduced attention regulation	1815	DRD4	OMIM:143465
HP:5200044	Reduced attention regulation	1816	DRD5	OMIM:143465
HP:5200044	Reduced attention regulation	51114	ZDHHC9	ORPHA:776
HP:5200044	Reduced attention regulation	65109	UPF3B	ORPHA:776
HP:5200044	Reduced attention regulation	4952	OCRL	ORPHA:534
HP:5200044	Reduced attention regulation	4131	MAP1B	OMIM:618918
HP:5200044	Reduced attention regulation	84679	SLC9A7	OMIM:301024
HP:5200044	Reduced attention regulation	2592	GALT	ORPHA:79239
HP:5200044	Reduced attention regulation	1741	DLG3	OMIM:300850
HP:5200044	Reduced attention regulation	7846	TUBA1A	ORPHA:467166
HP:5200044	Reduced attention regulation	6609	SMPD1	ORPHA:77293
HP:5200044	Reduced attention regulation	63035	BCORL1	OMIM:301029
HP:5200044	Reduced attention regulation	9969	MED13	OMIM:618009
HP:5200044	Reduced attention regulation	1312	COMT	ORPHA:567
HP:5200044	Reduced attention regulation	221037	JMJD1C	ORPHA:567
HP:5200044	Reduced attention regulation	2812	GP1BB	ORPHA:567
HP:5200044	Reduced attention regulation	6239	RREB1	ORPHA:567
HP:5200044	Reduced attention regulation	7290	HIRA	ORPHA:567
HP:5200044	Reduced attention regulation	9632	SEC24C	ORPHA:567
HP:5200044	Reduced attention regulation	7353	UFD1	ORPHA:567
HP:5200044	Reduced attention regulation	421	ARVCF	ORPHA:567
HP:5200044	Reduced attention regulation	5582	PRKCG	OMIM:605361
HP:5200044	Reduced attention regulation	51185	CRBN	OMIM:607417
HP:5200044	Reduced attention regulation	1137	CHRNA4	ORPHA:98784
HP:5200044	Reduced attention regulation	1135	CHRNA2	ORPHA:98784
HP:5200044	Reduced attention regulation	57010	CABP4	ORPHA:98784
HP:5200044	Reduced attention regulation	1141	CHRNB2	ORPHA:98784
HP:5200044	Reduced attention regulation	57582	KCNT1	ORPHA:98784
HP:5200044	Reduced attention regulation	1392	CRH	ORPHA:98784
HP:5200044	Reduced attention regulation	9681	DEPDC5	ORPHA:98784
HP:5200044	Reduced attention regulation	7703	PCGF2	OMIM:618371
HP:5200044	Reduced attention regulation	1781	DYNC1I2	OMIM:618492
HP:5200044	Reduced attention regulation	6907	TBL1X	OMIM:301033
HP:5200044	Reduced attention regulation	10524	KAT5	OMIM:619103
HP:5200044	Reduced attention regulation	79576	NKAP	OMIM:301039
HP:5200044	Reduced attention regulation	26040	SETBP1	OMIM:616078
HP:5200044	Reduced attention regulation	3188	HNRNPH2	OMIM:300986
HP:5200044	Reduced attention regulation	23152	CIC	OMIM:617600
HP:5200044	Reduced attention regulation	121278	TPH2	OMIM:613003
HP:5200044	Reduced attention regulation	51729	WBP11	OMIM:619227
HP:5200044	Reduced attention regulation	55186	SLC25A36	OMIM:620211
HP:5200044	Reduced attention regulation	2313	FLI1	ORPHA:2308
HP:5200044	Reduced attention regulation	7074	TIAM1	OMIM:619908
HP:5200044	Reduced attention regulation	23476	BRD4	ORPHA:199
HP:5200044	Reduced attention regulation	9126	SMC3	ORPHA:199
HP:5200044	Reduced attention regulation	8243	SMC1A	ORPHA:199
HP:5200044	Reduced attention regulation	8243	SMC1A	ORPHA:220386
HP:5200044	Reduced attention regulation	25836	NIPBL	ORPHA:199
HP:5200044	Reduced attention regulation	55869	HDAC8	ORPHA:199
HP:5200044	Reduced attention regulation	5885	RAD21	ORPHA:199
HP:5200044	Reduced attention regulation	9757	KMT2B	ORPHA:589618
HP:5200044	Reduced attention regulation	9757	KMT2B	OMIM:619934
HP:5200044	Reduced attention regulation	7874	USP7	ORPHA:500055
HP:5200044	Reduced attention regulation	139411	PTCHD1	OMIM:300830
HP:5200044	Reduced attention regulation	7204	TRIO	OMIM:618825
HP:5200044	Reduced attention regulation	7204	TRIO	OMIM:617061
HP:5200044	Reduced attention regulation	7204	TRIO	ORPHA:476126
HP:5200044	Reduced attention regulation	55526	DHTKD1	OMIM:204750
HP:5200044	Reduced attention regulation	4659	PPP1R12A	OMIM:618820
HP:5200044	Reduced attention regulation	3839	KPNA3	OMIM:620106
HP:5200044	Reduced attention regulation	4983	OPHN1	ORPHA:137831
HP:5200044	Reduced attention regulation	63932	STEEP1	OMIM:301013
HP:5200044	Reduced attention regulation	1457	CSNK2A1	OMIM:617062
HP:5200044	Reduced attention regulation	10681	GNB5	OMIM:617182
HP:5200044	Reduced attention regulation	6872	TAF1	OMIM:300966
HP:5200044	Reduced attention regulation	8567	MADD	OMIM:619005
HP:5200044	Reduced attention regulation	22871	NLGN1	OMIM:618830
HP:5200044	Reduced attention regulation	6472	SHMT2	OMIM:619121
HP:5200044	Reduced attention regulation	23112	TNRC6B	OMIM:619243
HP:5200044	Reduced attention regulation	81562	LMAN2L	OMIM:617863
HP:5200044	Reduced attention regulation	2890	GRIA1	OMIM:619927
HP:5200044	Reduced attention regulation	51473	DCDC2	ORPHA:84081
HP:5200044	Reduced attention regulation	91147	TMEM67	ORPHA:84081
HP:5200044	Reduced attention regulation	259266	ASPM	OMIM:608716
HP:5200044	Reduced attention regulation	2177	FANCD2	OMIM:227646
HP:5200044	Reduced attention regulation	3739	KCNA4	OMIM:618284
HP:5200044	Reduced attention regulation	10020	GNE	OMIM:269921
HP:5200044	Reduced attention regulation	10020	GNE	ORPHA:3166
HP:5200044	Reduced attention regulation	4781	NFIB	OMIM:618286
HP:5200044	Reduced attention regulation	51780	KDM3B	OMIM:618846
HP:5200044	Reduced attention regulation	51317	PHF21A	OMIM:618725
HP:5200044	Reduced attention regulation	5116	PCNT	ORPHA:2637
HP:5200044	Reduced attention regulation	203190	LGI3	OMIM:620007
HP:5200044	Reduced attention regulation	4683	NBN	ORPHA:647
HP:5200044	Reduced attention regulation	4693	NDP	ORPHA:649
HP:5200044	Reduced attention regulation	11011	TLK2	OMIM:618050
HP:5200044	Reduced attention regulation	1678	TIMM8A	ORPHA:52368
HP:5200044	Reduced attention regulation	129285	PPP1R21	OMIM:619383
HP:5200044	Reduced attention regulation	55553	SOX6	OMIM:618971
HP:5200044	Reduced attention regulation	27161	AGO2	OMIM:619149
HP:5200044	Reduced attention regulation	3832	KIF11	OMIM:152950
HP:5200044	Reduced attention regulation	2261	FGFR3	OMIM:602849
HP:5200044	Reduced attention regulation	55367	PIDD1	OMIM:619827
HP:5200044	Reduced attention regulation	84148	KAT8	OMIM:618974
HP:5200044	Reduced attention regulation	64682	ANAPC1	ORPHA:221008
HP:5200044	Reduced attention regulation	2077	ERF	OMIM:600775
HP:5200044	Reduced attention regulation	5428	POLG	OMIM:607459
HP:5200044	Reduced attention regulation	56652	TWNK	OMIM:607459
HP:5200044	Reduced attention regulation	11277	TREX1	OMIM:192315
HP:5200044	Reduced attention regulation	284361	EMC10	OMIM:619264
HP:5200044	Reduced attention regulation	81615	TMEM163	OMIM:620243
HP:5200044	Reduced attention regulation	54808	DYM	ORPHA:239
HP:5200045	Reduced impulse control	4204	MECP2	OMIM:300055
HP:5200045	Reduced impulse control	55768	NGLY1	OMIM:615273
HP:5200045	Reduced impulse control	1499	CTNNB1	OMIM:615075
HP:5200045	Reduced impulse control	8242	KDM5C	OMIM:300534
HP:5200045	Reduced impulse control	210	ALAD	ORPHA:100924
HP:5200045	Reduced impulse control	3028	HSD17B10	OMIM:300438
HP:5200045	Reduced impulse control	3028	HSD17B10	ORPHA:391428
HP:5200045	Reduced impulse control	5063	PAK3	OMIM:300558
HP:5200045	Reduced impulse control	27089	UQCRQ	OMIM:615159
HP:5200045	Reduced impulse control	1182	CLCN3	OMIM:619517
HP:5200045	Reduced impulse control	10059	DNM1L	OMIM:614388
HP:5200045	Reduced impulse control	23314	SATB2	ORPHA:251028
HP:5200045	Reduced impulse control	23314	SATB2	OMIM:612313
HP:5200045	Reduced impulse control	10165	SLC25A13	ORPHA:247585
HP:5200045	Reduced impulse control	2055	CLN8	OMIM:610003
HP:5200045	Reduced impulse control	283989	TSEN54	OMIM:277470
HP:5200045	Reduced impulse control	23389	MED13L	ORPHA:369891
HP:5200045	Reduced impulse control	501	ALDH7A1	ORPHA:3006
HP:5200045	Reduced impulse control	11212	PLPBP	ORPHA:3006
HP:5200045	Reduced impulse control	2731	GLDC	OMIM:605899
HP:5200045	Reduced impulse control	275	AMT	OMIM:605899
HP:5200045	Reduced impulse control	5805	PTS	ORPHA:13
HP:5200045	Reduced impulse control	5621	PRNP	OMIM:603218
HP:5200045	Reduced impulse control	5621	PRNP	ORPHA:157941
HP:5200045	Reduced impulse control	26137	ZBTB20	OMIM:259050
HP:5200045	Reduced impulse control	80704	SLC19A3	ORPHA:263410
HP:5200045	Reduced impulse control	128240	NAXE	OMIM:617186
HP:5200045	Reduced impulse control	11342	RNF13	OMIM:618379
HP:5200045	Reduced impulse control	11342	RNF13	ORPHA:544503
HP:5200045	Reduced impulse control	10847	SRCAP	ORPHA:2044
HP:5200045	Reduced impulse control	3145	HMBS	ORPHA:79276
HP:5200045	Reduced impulse control	3242	HPD	OMIM:140350
HP:5200045	Reduced impulse control	2799	GNS	OMIM:252940
HP:5200045	Reduced impulse control	10522	DEAF1	OMIM:617171
HP:5200045	Reduced impulse control	10522	DEAF1	ORPHA:468620
HP:5200045	Reduced impulse control	8367	H4C5	OMIM:619950
HP:5200045	Reduced impulse control	6711	SPTBN1	OMIM:619475
HP:5200045	Reduced impulse control	1593	CYP27A1	ORPHA:909
HP:5200045	Reduced impulse control	2778	GNAS	OMIM:219080
HP:5200045	Reduced impulse control	7253	TSHR	ORPHA:99819
HP:5200045	Reduced impulse control	7253	TSHR	ORPHA:424
HP:5200045	Reduced impulse control	2334	AFF2	ORPHA:100973
HP:5200045	Reduced impulse control	2334	AFF2	OMIM:309548
HP:5200045	Reduced impulse control	6792	CDKL5	ORPHA:3095
HP:5200045	Reduced impulse control	22854	NTNG1	ORPHA:3095
HP:5200045	Reduced impulse control	9568	GABBR2	ORPHA:3095
HP:5200045	Reduced impulse control	9568	GABBR2	OMIM:617903
HP:5200045	Reduced impulse control	8243	SMC1A	ORPHA:3095
HP:5200045	Reduced impulse control	1352	COX10	OMIM:619046
HP:5200045	Reduced impulse control	51816	ADA2	OMIM:615688
HP:5200045	Reduced impulse control	51473	DCDC2	ORPHA:84081
HP:5200045	Reduced impulse control	91147	TMEM67	ORPHA:84081
HP:5200045	Reduced impulse control	50940	PDE11A	OMIM:610475
HP:5200045	Reduced impulse control	6833	ABCC8	ORPHA:276575
HP:5200045	Reduced impulse control	3767	KCNJ11	ORPHA:276580
HP:5200045	Reduced impulse control	4047	LSS	OMIM:618840
HP:5200045	Reduced impulse control	111	ADCY5	OMIM:619651
HP:5200045	Reduced impulse control	535	ATP6V0A1	OMIM:619970
HP:5200045	Reduced impulse control	1889	ECE1	OMIM:613870
HP:5200045	Reduced impulse control	162417	NAGS	ORPHA:927
HP:5200045	Reduced impulse control	2629	GBA1	ORPHA:411602
HP:5200045	Reduced impulse control	23317	DNAJC13	ORPHA:411602
HP:5200045	Reduced impulse control	1981	EIF4G1	ORPHA:411602
HP:5200045	Reduced impulse control	55737	VPS35	ORPHA:411602
HP:5200045	Reduced impulse control	120892	LRRK2	ORPHA:411602
HP:5200045	Reduced impulse control	120892	LRRK2	ORPHA:2828
HP:5200045	Reduced impulse control	26058	GIGYF2	ORPHA:411602
HP:5200045	Reduced impulse control	6622	SNCA	ORPHA:411602
HP:5200045	Reduced impulse control	6622	SNCA	ORPHA:2828
HP:5200045	Reduced impulse control	1968	EIF2S3	ORPHA:85282
HP:5200045	Reduced impulse control	51322	WAC	OMIM:616708
HP:5200045	Reduced impulse control	3178	HNRNPA1	ORPHA:803
HP:5200045	Reduced impulse control	8148	TAF15	ORPHA:803
HP:5200045	Reduced impulse control	5445	PON2	ORPHA:803
HP:5200045	Reduced impulse control	9217	VAPB	ORPHA:803
HP:5200045	Reduced impulse control	5630	PRPH	ORPHA:803
HP:5200045	Reduced impulse control	55830	GLT8D1	ORPHA:803
HP:5200045	Reduced impulse control	755	CFAP410	ORPHA:803
HP:5200045	Reduced impulse control	10891	PPARGC1A	ORPHA:803
HP:5200045	Reduced impulse control	6647	SOD1	ORPHA:803
HP:5200045	Reduced impulse control	10133	OPTN	ORPHA:803
HP:5200045	Reduced impulse control	9896	FIG4	ORPHA:803
HP:5200045	Reduced impulse control	5444	PON1	ORPHA:803
HP:5200045	Reduced impulse control	5446	PON3	ORPHA:803
HP:5200045	Reduced impulse control	4744	NEFH	ORPHA:803
HP:5200045	Reduced impulse control	5216	PFN1	ORPHA:803
HP:5200045	Reduced impulse control	9782	MATR3	ORPHA:803
HP:5200045	Reduced impulse control	283	ANG	ORPHA:803
HP:5200045	Reduced impulse control	29978	UBQLN2	ORPHA:803
HP:5200045	Reduced impulse control	2733	GLE1	ORPHA:803
HP:5200045	Reduced impulse control	4750	NEK1	ORPHA:803
HP:5200045	Reduced impulse control	2043	EPHA4	ORPHA:803
HP:5200045	Reduced impulse control	6311	ATXN2	ORPHA:803
HP:5200045	Reduced impulse control	1610	DAO	ORPHA:803
HP:5200045	Reduced impulse control	2066	ERBB4	ORPHA:803
HP:5200045	Reduced impulse control	311	ANXA11	ORPHA:803
HP:5200045	Reduced impulse control	23025	UNC13A	ORPHA:803
HP:5200045	Reduced impulse control	899	CCNF	ORPHA:803
HP:5200045	Reduced impulse control	6821	SUOX	OMIM:272300
HP:5200045	Reduced impulse control	3172	HNF4A	ORPHA:263455
HP:5200045	Reduced impulse control	6927	HNF1A	ORPHA:324575
HP:5200045	Reduced impulse control	3832	KIF11	OMIM:152950
HP:5200045	Reduced impulse control	221927	BRAT1	OMIM:618056
HP:5200045	Reduced impulse control	2257	FGF12	OMIM:617166
HP:5200045	Reduced impulse control	1641	DCX	ORPHA:2148
HP:5200045	Reduced impulse control	3340	NDST1	OMIM:616116
HP:5200045	Reduced impulse control	7351	UCP2	ORPHA:276556
HP:5200045	Reduced impulse control	6304	SATB1	OMIM:619229
HP:5200045	Reduced impulse control	54832	VPS13C	ORPHA:2828
HP:5200045	Reduced impulse control	11315	PARK7	ORPHA:2828
HP:5200045	Reduced impulse control	7345	UCHL1	ORPHA:2828
HP:5200045	Reduced impulse control	27429	HTRA2	ORPHA:2828
HP:5200045	Reduced impulse control	9829	DNAJC6	ORPHA:2828
HP:5200045	Reduced impulse control	5420	PODXL	ORPHA:2828
HP:5200045	Reduced impulse control	65018	PINK1	ORPHA:2828
HP:5200045	Reduced impulse control	8867	SYNJ1	ORPHA:2828
HP:5200045	Reduced impulse control	5071	PRKN	ORPHA:2828
HP:5200045	Reduced impulse control	2744	GLS	OMIM:618339
HP:5200045	Reduced impulse control	3480	IGF1R	OMIM:270450
HP:5200045	Reduced impulse control	773	CACNA1A	OMIM:141500
HP:5200045	Reduced impulse control	54209	TREM2	OMIM:618193
HP:5200045	Reduced impulse control	54209	TREM2	ORPHA:275864
HP:5200045	Reduced impulse control	54209	TREM2	ORPHA:1020
HP:5200045	Reduced impulse control	54209	TREM2	ORPHA:2770
HP:5200045	Reduced impulse control	4137	MAPT	OMIM:600274
HP:5200045	Reduced impulse control	4137	MAPT	OMIM:172700
HP:5200045	Reduced impulse control	4137	MAPT	ORPHA:275864
HP:5200045	Reduced impulse control	5663	PSEN1	OMIM:600274
HP:5200045	Reduced impulse control	5663	PSEN1	OMIM:172700
HP:5200045	Reduced impulse control	5663	PSEN1	ORPHA:275864
HP:5200045	Reduced impulse control	5663	PSEN1	ORPHA:1020
HP:5200045	Reduced impulse control	2512	FTL	OMIM:606159
HP:5200045	Reduced impulse control	25978	CHMP2B	OMIM:600795
HP:5200045	Reduced impulse control	25978	CHMP2B	ORPHA:275864
HP:5200045	Reduced impulse control	2332	FMR1	OMIM:300623
HP:5200045	Reduced impulse control	7305	TYROBP	OMIM:221770
HP:5200045	Reduced impulse control	7305	TYROBP	ORPHA:2770
HP:5200045	Reduced impulse control	23230	VPS13A	OMIM:200150
HP:5200045	Reduced impulse control	10347	ABCA7	OMIM:608907
HP:5200045	Reduced impulse control	10347	ABCA7	ORPHA:1020
HP:5200045	Reduced impulse control	23435	TARDBP	OMIM:612069
HP:5200045	Reduced impulse control	23435	TARDBP	ORPHA:275872
HP:5200045	Reduced impulse control	2896	GRN	ORPHA:275864
HP:5200045	Reduced impulse control	2896	GRN	OMIM:607485
HP:5200045	Reduced impulse control	54664	TMEM106B	ORPHA:275864
HP:5200045	Reduced impulse control	8878	SQSTM1	ORPHA:275864
HP:5200045	Reduced impulse control	8878	SQSTM1	OMIM:616437
HP:5200045	Reduced impulse control	8878	SQSTM1	ORPHA:275872
HP:5200045	Reduced impulse control	7415	VCP	ORPHA:275864
HP:5200045	Reduced impulse control	7415	VCP	ORPHA:275872
HP:5200045	Reduced impulse control	5664	PSEN2	ORPHA:1020
HP:5200045	Reduced impulse control	10452	TOMM40	ORPHA:1020
HP:5200045	Reduced impulse control	351	APP	ORPHA:1020
HP:5200045	Reduced impulse control	6653	SORL1	ORPHA:1020
HP:5200045	Reduced impulse control	6683	SPAST	OMIM:182601
HP:5200045	Reduced impulse control	2521	FUS	ORPHA:275872
HP:5200045	Reduced impulse control	400916	CHCHD10	ORPHA:275872
HP:5200045	Reduced impulse control	1639	DCTN1	OMIM:168605
HP:5200045	Reduced impulse control	10682	EBP	ORPHA:401973
HP:5200045	Reduced impulse control	10682	EBP	OMIM:300960
HP:5200045	Reduced impulse control	199857	ALG14	OMIM:619031
HP:5200045	Reduced impulse control	8450	CUL4B	OMIM:300354
HP:5200045	Reduced impulse control	8450	CUL4B	ORPHA:85293
HP:5200045	Reduced impulse control	158	ADSL	OMIM:103050
HP:5200045	Reduced impulse control	8036	SHOC2	OMIM:607721
HP:5200045	Reduced impulse control	340533	NEXMIF	OMIM:300912
HP:5200045	Reduced impulse control	340533	NEXMIF	ORPHA:1942
HP:5200045	Reduced impulse control	9853	RUSC2	OMIM:617773
HP:5200045	Reduced impulse control	23135	KDM6B	OMIM:618505
HP:5200045	Reduced impulse control	26040	SETBP1	ORPHA:436151
HP:5200045	Reduced impulse control	26040	SETBP1	OMIM:616078
HP:5200045	Reduced impulse control	55777	MBD5	ORPHA:228402
HP:5200045	Reduced impulse control	1119	CHKA	OMIM:620023
HP:5200045	Reduced impulse control	51343	FZR1	OMIM:620145
HP:5200045	Reduced impulse control	23126	POGZ	ORPHA:468678
HP:5200045	Reduced impulse control	23126	POGZ	OMIM:616364
HP:5200045	Reduced impulse control	10093	ARPC4	OMIM:620141
HP:5200045	Reduced impulse control	4784	NFIX	ORPHA:447980
HP:5200045	Reduced impulse control	2593	GAMT	ORPHA:382
HP:5200045	Reduced impulse control	4983	OPHN1	OMIM:300486
HP:5200045	Reduced impulse control	6535	SLC6A8	ORPHA:52503
HP:5200045	Reduced impulse control	3020	H3-3A	OMIM:619720
HP:5200045	Reduced impulse control	10730	YME1L1	OMIM:617302
HP:5200045	Reduced impulse control	56623	INPP5E	ORPHA:75858
HP:5200045	Reduced impulse control	56623	INPP5E	OMIM:213300
HP:5200045	Reduced impulse control	26580	BSCL2	OMIM:615924
HP:5200045	Reduced impulse control	26580	BSCL2	ORPHA:363400
HP:5200045	Reduced impulse control	284403	WDR62	OMIM:604317
HP:5200045	Reduced impulse control	56992	KIF15	ORPHA:261323
HP:5200045	Reduced impulse control	83696	TRAPPC9	OMIM:613192
HP:5200045	Reduced impulse control	288	ANK3	OMIM:615493
HP:5200045	Reduced impulse control	288	ANK3	ORPHA:356996
HP:5200045	Reduced impulse control	10134	BCAP31	ORPHA:369939
HP:5200045	Reduced impulse control	215	ABCD1	ORPHA:139396
HP:5200045	Reduced impulse control	80204	FBXO11	OMIM:618089
HP:5200045	Reduced impulse control	340024	SLC6A19	OMIM:234500
HP:5200045	Reduced impulse control	3034	HAL	ORPHA:2157
HP:5200045	Reduced impulse control	1183	CLCN4	ORPHA:485350
HP:5200045	Reduced impulse control	10015	PDCD6IP	OMIM:620047
HP:5200045	Reduced impulse control	8398	PLA2G6	ORPHA:35069
HP:5200045	Reduced impulse control	8398	PLA2G6	OMIM:610217
HP:5200045	Reduced impulse control	7080	NKX2-1	ORPHA:209905
HP:5200045	Reduced impulse control	1717	DHCR7	OMIM:270400
HP:5200045	Reduced impulse control	80856	LNPK	OMIM:618090
HP:5200045	Reduced impulse control	1759	DNM1	ORPHA:2382
HP:5200045	Reduced impulse control	2562	GABRB3	ORPHA:2382
HP:5200045	Reduced impulse control	2562	GABRB3	OMIM:617113
HP:5200045	Reduced impulse control	5602	MAPK10	ORPHA:2382
HP:5200045	Reduced impulse control	6323	SCN1A	ORPHA:2382
HP:5200045	Reduced impulse control	6323	SCN1A	ORPHA:1942
HP:5200045	Reduced impulse control	23316	CUX2	ORPHA:2382
HP:5200045	Reduced impulse control	1106	CHD2	ORPHA:2382
HP:5200045	Reduced impulse control	1106	CHD2	ORPHA:1942
HP:5200045	Reduced impulse control	26053	AUTS2	ORPHA:352490
HP:5200045	Reduced impulse control	26053	AUTS2	OMIM:615834
HP:5200045	Reduced impulse control	4297	KMT2A	ORPHA:319182
HP:5200045	Reduced impulse control	4297	KMT2A	OMIM:605130
HP:5200045	Reduced impulse control	11284	PNKP	OMIM:613402
HP:5200045	Reduced impulse control	11284	PNKP	ORPHA:1934
HP:5200045	Reduced impulse control	5144	PDE4D	OMIM:614613
HP:5200045	Reduced impulse control	5144	PDE4D	ORPHA:280651
HP:5200045	Reduced impulse control	84300	UQCC2	OMIM:615824
HP:5200045	Reduced impulse control	2903	GRIN2A	ORPHA:98818
HP:5200045	Reduced impulse control	25942	SIN3A	OMIM:613406
HP:5200045	Reduced impulse control	7915	ALDH5A1	OMIM:271980
HP:5200045	Reduced impulse control	6638	SNRPN	OMIM:105830
HP:5200045	Reduced impulse control	6638	SNRPN	ORPHA:411515
HP:5200045	Reduced impulse control	7337	UBE3A	OMIM:105830
HP:5200045	Reduced impulse control	7337	UBE3A	ORPHA:98794
HP:5200045	Reduced impulse control	7337	UBE3A	ORPHA:411515
HP:5200045	Reduced impulse control	80025	PANK2	OMIM:234200
HP:5200045	Reduced impulse control	57459	GATAD2B	ORPHA:363686
HP:5200045	Reduced impulse control	57459	GATAD2B	OMIM:615074
HP:5200045	Reduced impulse control	113179	ADAT3	OMIM:615286
HP:5200045	Reduced impulse control	113179	ADAT3	ORPHA:363528
HP:5200045	Reduced impulse control	6942	TCF20	OMIM:618430
HP:5200045	Reduced impulse control	23261	CAMTA1	OMIM:614756
HP:5200045	Reduced impulse control	476	ATP1A1	OMIM:618314
HP:5200045	Reduced impulse control	54862	CC2D1A	OMIM:608443
HP:5200045	Reduced impulse control	10430	TMEM147	OMIM:620075
HP:5200045	Reduced impulse control	10743	RAI1	OMIM:182290
HP:5200045	Reduced impulse control	546	ATRX	OMIM:309580
HP:5200045	Reduced impulse control	26047	CNTNAP2	OMIM:610042
HP:5200045	Reduced impulse control	26047	CNTNAP2	ORPHA:163681
HP:5200045	Reduced impulse control	10735	STAG2	ORPHA:521258
HP:5200045	Reduced impulse control	3458	IFNG	ORPHA:805
HP:5200045	Reduced impulse control	7248	TSC1	ORPHA:805
HP:5200045	Reduced impulse control	7249	TSC2	ORPHA:805
HP:5200045	Reduced impulse control	147372	CCBE1	OMIM:235510
HP:5200045	Reduced impulse control	6509	SLC1A4	ORPHA:447997
HP:5200045	Reduced impulse control	6509	SLC1A4	OMIM:616657
HP:5200045	Reduced impulse control	6513	SLC2A1	ORPHA:1942
HP:5200045	Reduced impulse control	8831	SYNGAP1	ORPHA:1942
HP:5200045	Reduced impulse control	1173	AP2M1	ORPHA:1942
HP:5200045	Reduced impulse control	6529	SLC6A1	ORPHA:1942
HP:5200045	Reduced impulse control	2742	GLRA2	OMIM:301076
HP:5200045	Reduced impulse control	3845	KRAS	OMIM:600268
HP:5200045	Reduced impulse control	2033	EP300	OMIM:613684
HP:5200045	Reduced impulse control	2033	EP300	ORPHA:353284
HP:5200045	Reduced impulse control	2033	EP300	OMIM:180849
HP:5200045	Reduced impulse control	6878	TAF6	OMIM:617126
HP:5200045	Reduced impulse control	3736	KCNA1	ORPHA:1934
HP:5200045	Reduced impulse control	9091	PIGQ	ORPHA:1934
HP:5200045	Reduced impulse control	2775	GNAO1	ORPHA:1934
HP:5200045	Reduced impulse control	81603	TRIM8	ORPHA:1934
HP:5200045	Reduced impulse control	2902	GRIN1	ORPHA:1934
HP:5200045	Reduced impulse control	79751	SLC25A22	ORPHA:1934
HP:5200045	Reduced impulse control	150094	SIK1	ORPHA:1934
HP:5200045	Reduced impulse control	8573	CASK	ORPHA:1934
HP:5200045	Reduced impulse control	23312	DMXL2	ORPHA:1934
HP:5200045	Reduced impulse control	2917	GRM7	ORPHA:1934
HP:5200045	Reduced impulse control	170302	ARX	ORPHA:1934
HP:5200045	Reduced impulse control	6326	SCN2A	ORPHA:1934
HP:5200045	Reduced impulse control	51227	PIGP	ORPHA:1934
HP:5200045	Reduced impulse control	6324	SCN1B	ORPHA:1934
HP:5200045	Reduced impulse control	4761	NEUROD2	ORPHA:1934
HP:5200045	Reduced impulse control	54808	DYM	ORPHA:239
HP:5200045	Reduced impulse control	10075	HUWE1	OMIM:309590
HP:5200045	Reduced impulse control	1203	CLN5	ORPHA:228360
HP:5200045	Reduced impulse control	3479	IGF1	ORPHA:73272
HP:5200045	Reduced impulse control	3479	IGF1	OMIM:608747
HP:5200045	Reduced impulse control	57526	PCDH19	ORPHA:101039
HP:5200045	Reduced impulse control	6448	SGSH	OMIM:252900
HP:5200045	Reduced impulse control	54517	PUS7	OMIM:618342
HP:5200045	Reduced impulse control	4683	NBN	OMIM:251260
HP:5200045	Reduced impulse control	23394	ADNP	OMIM:615873
HP:5200045	Reduced impulse control	8924	HERC2	OMIM:615516
HP:5200045	Reduced impulse control	50814	NSDHL	ORPHA:251383
HP:5200045	Reduced impulse control	50814	NSDHL	OMIM:300831
HP:5200045	Reduced impulse control	1387	CREBBP	ORPHA:353281
HP:5200045	Reduced impulse control	1387	CREBBP	OMIM:180849
HP:5200045	Reduced impulse control	1387	CREBBP	ORPHA:353277
HP:5200045	Reduced impulse control	1806	DPYD	OMIM:274270
HP:5200045	Reduced impulse control	10157	AASS	ORPHA:2203
HP:5200045	Reduced impulse control	10157	AASS	OMIM:238700
HP:5200045	Reduced impulse control	5053	PAH	OMIM:261600
HP:5200045	Reduced impulse control	5053	PAH	ORPHA:2209
HP:5200045	Reduced impulse control	1654	DDX3X	ORPHA:457260
HP:5200045	Reduced impulse control	1654	DDX3X	OMIM:300958
HP:5200045	Reduced impulse control	3097	HIVEP2	OMIM:616977
HP:5200045	Reduced impulse control	1815	DRD4	OMIM:143465
HP:5200045	Reduced impulse control	1816	DRD5	OMIM:143465
HP:5200045	Reduced impulse control	4948	OCA2	ORPHA:98794
HP:5200045	Reduced impulse control	7468	NSD2	OMIM:619695
HP:5200045	Reduced impulse control	85358	SHANK3	ORPHA:48652
HP:5200045	Reduced impulse control	85358	SHANK3	OMIM:613950
HP:5200045	Reduced impulse control	201163	FLCN	OMIM:610883
HP:5200045	Reduced impulse control	22827	PUF60	ORPHA:508488
HP:5200045	Reduced impulse control	23258	DENND5A	OMIM:617281
HP:5200045	Reduced impulse control	1760	DMPK	ORPHA:589821
HP:5200045	Reduced impulse control	164	AP1G1	OMIM:619467
HP:5200045	Reduced impulse control	9758	FRMPD4	OMIM:300983
HP:5200045	Reduced impulse control	10297	APC2	OMIM:617169
HP:5200045	Reduced impulse control	80185	TTI2	OMIM:615541
HP:5200045	Reduced impulse control	80185	TTI2	ORPHA:391307
HP:5200045	Reduced impulse control	4126	MANBA	OMIM:248510
HP:5200045	Reduced impulse control	51305	KCNK9	ORPHA:166108
HP:5200045	Reduced impulse control	545	ATR	OMIM:210600
HP:5200045	Reduced impulse control	2475	MTOR	ORPHA:457485
HP:5200045	Reduced impulse control	23152	CIC	OMIM:617600
HP:5200045	Reduced impulse control	4914	NTRK1	OMIM:256800
HP:5200045	Reduced impulse control	4914	NTRK1	ORPHA:642
HP:5200045	Reduced impulse control	6697	SPR	OMIM:612716
HP:5200045	Reduced impulse control	84065	TMEM222	OMIM:619470
HP:5200045	Reduced impulse control	116442	RAB39B	OMIM:300271
HP:5200045	Reduced impulse control	134218	DNAJC21	OMIM:617052
HP:5200045	Reduced impulse control	10367	MICU1	OMIM:615673
HP:5200045	Reduced impulse control	22866	CNKSR2	OMIM:301008
HP:5200045	Reduced impulse control	3747	KCNC2	OMIM:619913
HP:5200045	Reduced impulse control	1859	DYRK1A	OMIM:614104
HP:5200045	Reduced impulse control	8452	CUL3	OMIM:619239
HP:5200045	Reduced impulse control	9968	MED12	OMIM:309520
HP:5200045	Reduced impulse control	7343	UBTF	ORPHA:500180
HP:5200045	Reduced impulse control	63932	STEEP1	OMIM:301013
HP:5200045	Reduced impulse control	10681	GNB5	OMIM:617182
HP:5200045	Reduced impulse control	57477	SHROOM4	ORPHA:85288
HP:5200045	Reduced impulse control	2890	GRIA1	OMIM:619927
HP:5200045	Reduced impulse control	5625	PRODH	OMIM:239500
HP:5200045	Reduced impulse control	84628	NTNG2	OMIM:618718
HP:5200045	Reduced impulse control	9759	HDAC4	OMIM:600430
HP:5200045	Reduced impulse control	95	ACY1	OMIM:609924
HP:5200045	Reduced impulse control	9320	TRIP12	OMIM:617752
HP:5200045	Reduced impulse control	5879	RAC1	OMIM:617751
HP:5200045	Reduced impulse control	383	ARG1	OMIM:207800
HP:5200045	Reduced impulse control	284058	KANSL1	OMIM:610443
HP:5200045	Reduced impulse control	5718	PSMD12	OMIM:617516
HP:5200045	Reduced impulse control	11043	MID2	OMIM:300928
HP:5200045	Reduced impulse control	138050	HGSNAT	OMIM:252930
HP:5200045	Reduced impulse control	10079	ATP9A	OMIM:620242
HP:5200045	Reduced impulse control	5727	PTCH1	ORPHA:77301
HP:5200045	Reduced impulse control	4860	PNP	ORPHA:760
HP:5200045	Reduced impulse control	11141	IL1RAPL1	OMIM:300143
HP:5200045	Reduced impulse control	23102	TBC1D2B	ORPHA:397973
HP:5200045	Reduced impulse control	1804	DPP6	OMIM:616311
HP:5200045	Reduced impulse control	55367	PIDD1	OMIM:619827
HP:5200045	Reduced impulse control	5518	PPP2R1A	ORPHA:457284
HP:5200045	Reduced impulse control	161742	SPRED1	ORPHA:137605
HP:5200045	Reduced impulse control	57194	ATP10A	ORPHA:411515
HP:5200045	Reduced impulse control	4669	NAGLU	OMIM:252920
HP:5200045	Reduced impulse control	261734	NPHP4	OMIM:606996
HP:5200045	Reduced impulse control	261734	NPHP4	OMIM:606966
HP:5200045	Reduced impulse control	1497	CTNS	OMIM:219800
HP:5200045	Reduced impulse control	1497	CTNS	ORPHA:411629
HP:5200045	Reduced impulse control	1497	CTNS	ORPHA:411634
HP:5200045	Reduced impulse control	359	AQP2	OMIM:125800
HP:5200045	Reduced impulse control	359	AQP2	ORPHA:223
HP:5200045	Reduced impulse control	54585	LZTFL1	OMIM:615994
HP:5200045	Reduced impulse control	493856	CISD2	ORPHA:3463
HP:5200045	Reduced impulse control	7466	WFS1	ORPHA:3463
HP:5200045	Reduced impulse control	6928	HNF1B	ORPHA:93111
HP:5200045	Reduced impulse control	554	AVPR2	ORPHA:223
HP:5200045	Reduced impulse control	554	AVPR2	OMIM:304800
HP:5200045	Reduced impulse control	79577	CDC73	ORPHA:143
HP:5200045	Reduced impulse control	79577	CDC73	ORPHA:99880
HP:5200045	Reduced impulse control	4867	NPHP1	OMIM:266900
HP:5200045	Reduced impulse control	4867	NPHP1	OMIM:256100
HP:5200045	Reduced impulse control	10686	CLDN16	OMIM:248250
HP:5200045	Reduced impulse control	3662	IRF4	ORPHA:3452
HP:5200045	Reduced impulse control	199221	DZIP1L	ORPHA:731
HP:5200045	Reduced impulse control	5314	PKHD1	ORPHA:731
HP:5200045	Reduced impulse control	9071	CLDN10	OMIM:617671
HP:5200045	Reduced impulse control	9365	KL	OMIM:617994
HP:5200045	Reduced impulse control	114548	NLRP3	ORPHA:47045
HP:5200045	Reduced impulse control	551	AVP	ORPHA:30925
HP:5200045	Reduced impulse control	3762	KCNJ5	OMIM:613677
HP:5200045	Reduced impulse control	3762	KCNJ5	ORPHA:251274
HP:5200045	Reduced impulse control	3643	INSR	ORPHA:769
HP:5200045	Reduced impulse control	1584	CYP11B1	ORPHA:403
HP:5200045	Reduced impulse control	1585	CYP11B2	ORPHA:403
HP:5200045	Reduced impulse control	3291	HSD11B2	ORPHA:320
HP:5200045	Reduced impulse control	7809	BSND	OMIM:602522
HP:5200045	Reduced impulse control	776	CACNA1D	ORPHA:369929
HP:5200045	Reduced impulse control	254428	SLC41A1	OMIM:619468
HP:5200045	Reduced impulse control	3758	KCNJ1	OMIM:241200
HP:5200045	Reduced impulse control	9860	LRIG2	ORPHA:2704
HP:5200045	Reduced impulse control	60495	HPSE2	ORPHA:2704
HP:5200045	Reduced impulse control	27031	NPHP3	OMIM:604387
HP:5200045	Reduced impulse control	2260	FGFR1	ORPHA:3157
HP:5200045	Reduced impulse control	128674	PROKR2	ORPHA:3157
HP:5200045	Reduced impulse control	6657	SOX2	ORPHA:3157
HP:5200045	Reduced impulse control	6658	SOX3	ORPHA:3157
HP:5200045	Reduced impulse control	9915	ARNT2	ORPHA:3157
HP:5200045	Reduced impulse control	8820	HESX1	ORPHA:3157
HP:5200045	Reduced impulse control	5015	OTX2	ORPHA:3157
HP:5200045	Reduced impulse control	846	CASR	OMIM:239200
HP:5200045	Reduced impulse control	7840	ALMS1	ORPHA:64
HP:5200045	Reduced impulse control	11253	MAN1B1	ORPHA:397941
HP:5200045	Reduced impulse control	6492	SIM1	ORPHA:369873
HP:5200045	Reduced impulse control	6492	SIM1	ORPHA:171829
HP:5200045	Reduced impulse control	6492	SIM1	ORPHA:398079
HP:5200045	Reduced impulse control	5122	PCSK1	ORPHA:71528
HP:5200045	Reduced impulse control	4160	MC4R	ORPHA:71529
HP:5200045	Reduced impulse control	4160	MC4R	OMIM:618406
HP:5200045	Reduced impulse control	23040	MYT1L	OMIM:616521
HP:5200045	Reduced impulse control	5443	POMC	ORPHA:71526
HP:5200045	Reduced impulse control	5443	POMC	OMIM:609734
HP:5200045	Reduced impulse control	5590	PRKCZ	ORPHA:1606
HP:5200045	Reduced impulse control	2563	GABRD	ORPHA:1606
HP:5200045	Reduced impulse control	23013	SPEN	ORPHA:1606
HP:5200045	Reduced impulse control	8510	MMP23B	ORPHA:1606
HP:5200045	Reduced impulse control	7798	LUZP1	ORPHA:1606
HP:5200045	Reduced impulse control	6497	SKI	ORPHA:1606
HP:5200045	Reduced impulse control	10630	PDPN	ORPHA:1606
HP:5200045	Reduced impulse control	3339	HSPG2	ORPHA:1606
HP:5200045	Reduced impulse control	10277	UBE4B	ORPHA:1606
HP:5200045	Reduced impulse control	8514	KCNAB2	ORPHA:1606
HP:5200045	Reduced impulse control	473	RERE	ORPHA:1606
HP:5200045	Reduced impulse control	63976	PRDM16	ORPHA:1606
HP:5200045	Reduced impulse control	54897	CASZ1	ORPHA:1606
HP:5200045	Reduced impulse control	4221	MEN1	ORPHA:97279
HP:5200045	Reduced impulse control	7528	YY1	ORPHA:97279
HP:5200045	Reduced impulse control	7681	MKRN3	OMIM:176270
HP:5200045	Reduced impulse control	3653	IPW	OMIM:176270
HP:5200045	Reduced impulse control	54551	MAGEL2	OMIM:176270
HP:5200045	Reduced impulse control	54551	MAGEL2	ORPHA:98754
HP:5200045	Reduced impulse control	54551	MAGEL2	ORPHA:177904
HP:5200045	Reduced impulse control	54551	MAGEL2	ORPHA:177901
HP:5200045	Reduced impulse control	54551	MAGEL2	ORPHA:398069
HP:5200045	Reduced impulse control	54551	MAGEL2	ORPHA:177910
HP:5200045	Reduced impulse control	54551	MAGEL2	OMIM:615547
HP:5200045	Reduced impulse control	791114	PWRN1	OMIM:176270
HP:5200045	Reduced impulse control	100033413	SNORD116-1	OMIM:176270
HP:5200045	Reduced impulse control	145624	PWAR1	OMIM:176270
HP:5200045	Reduced impulse control	23742	NPAP1	OMIM:176270
HP:5200045	Reduced impulse control	338433	SNORD115-1	OMIM:176270
HP:5200045	Reduced impulse control	25970	SH2B1	ORPHA:329249
HP:5200045	Reduced impulse control	3952	LEP	ORPHA:66628
HP:5200045	Reduced impulse control	3952	LEP	OMIM:614962
HP:5200045	Reduced impulse control	6519	SLC3A1	ORPHA:163690
HP:5200045	Reduced impulse control	9581	PREPL	ORPHA:163690
HP:5200045	Reduced impulse control	4692	NDN	ORPHA:98754
HP:5200045	Reduced impulse control	4692	NDN	ORPHA:177904
HP:5200045	Reduced impulse control	4692	NDN	ORPHA:177901
HP:5200045	Reduced impulse control	4692	NDN	ORPHA:177910
HP:5200045	Reduced impulse control	2146	EZH2	OMIM:277590
HP:5200045	Reduced impulse control	3953	LEPR	OMIM:614963
HP:5200045	Reduced impulse control	3953	LEPR	ORPHA:179494
HP:5200045	Reduced impulse control	80173	IFT74	OMIM:617119
HP:5200045	Reduced impulse control	506	ATP5F1B	OMIM:620085
HP:5200045	Reduced impulse control	10555	AGPAT2	OMIM:608594
HP:5200045	Reduced impulse control	26191	PTPN22	OMIM:222100
HP:5200045	Reduced impulse control	3710	ITPR3	OMIM:222100
HP:5200045	Reduced impulse control	3569	IL6	OMIM:222100
HP:5200045	Reduced impulse control	4330	MN1	OMIM:618774
HP:5200045	Reduced impulse control	83550	GPR101	OMIM:300942
HP:5200045	Reduced impulse control	29072	SETD2	OMIM:616831
HP:5200045	Reduced impulse control	109	ADCY3	OMIM:617885
HP:5200045	Reduced impulse control	4915	NTRK2	OMIM:613886
HP:5200045	Reduced impulse control	27241	BBS9	OMIM:615986
HP:5200045	Reduced impulse control	6524	SLC5A2	OMIM:233100
HP:5200045	Reduced impulse control	673	BRAF	ORPHA:54595
HP:5200045	Reduced impulse control	128	ADH5	OMIM:619151
HP:5200045	Reduced impulse control	8912	CACNA1H	ORPHA:64280
HP:5200045	Reduced impulse control	8629	JRK	ORPHA:64280
HP:5200045	Reduced impulse control	26960	NBEA	OMIM:619157
HP:5200045	Reduced impulse control	1139	CHRNA7	ORPHA:199318
HP:5200045	Reduced impulse control	1024	CDK8	OMIM:618748
HP:5200045	Reduced impulse control	775	CACNA1C	OMIM:620029
HP:5200045	Reduced impulse control	91801	ALKBH8	OMIM:618504
HP:5200045	Reduced impulse control	7068	THRB	OMIM:274300
HP:5200045	Reduced impulse control	7068	THRB	OMIM:188570
HP:5200045	Reduced impulse control	118987	PDZD8	OMIM:620021
HP:5200045	Reduced impulse control	64324	NSD1	ORPHA:821
HP:5200045	Reduced impulse control	64324	NSD1	OMIM:117550
HP:5200045	Reduced impulse control	55209	SETD5	ORPHA:404440
HP:5200045	Reduced impulse control	6687	SPG7	ORPHA:99013
HP:5200045	Reduced impulse control	4072	EPCAM	ORPHA:144
HP:5200045	Reduced impulse control	4292	MLH1	ORPHA:144
HP:5200045	Reduced impulse control	5395	PMS2	ORPHA:144
HP:5200045	Reduced impulse control	27030	MLH3	ORPHA:144
HP:5200045	Reduced impulse control	22909	FAN1	ORPHA:144
HP:5200045	Reduced impulse control	7048	TGFBR2	ORPHA:144
HP:5200045	Reduced impulse control	5290	PIK3CA	ORPHA:144
HP:5200045	Reduced impulse control	2956	MSH6	ORPHA:144
HP:5200045	Reduced impulse control	5378	PMS1	ORPHA:144
HP:5200045	Reduced impulse control	4436	MSH2	ORPHA:144
HP:5200045	Reduced impulse control	49855	SCAPER	OMIM:618195
HP:5200045	Reduced impulse control	4774	NFIA	ORPHA:401986
HP:5200045	Reduced impulse control	116931	MED12L	OMIM:618872
HP:5200045	Reduced impulse control	3199	HOXA2	ORPHA:83463
HP:5200045	Reduced impulse control	9578	CDC42BPB	OMIM:619841
HP:5200045	Reduced impulse control	613	BCR	ORPHA:261330
HP:5200045	Reduced impulse control	1399	CRKL	ORPHA:261330
HP:5200045	Reduced impulse control	5594	MAPK1	ORPHA:261330
HP:5200045	Reduced impulse control	5594	MAPK1	OMIM:619087
HP:5200045	Reduced impulse control	55790	CSGALNACT1	OMIM:618870
HP:5200045	Reduced impulse control	64218	SEMA4A	ORPHA:440437
HP:5200045	Reduced impulse control	657	BMPR1A	ORPHA:440437
HP:5200045	Reduced impulse control	6224	RPS20	ORPHA:440437
HP:5200045	Reduced impulse control	51111	KMT5B	OMIM:617788
HP:5200045	Reduced impulse control	80155	NAA15	OMIM:617787
HP:5200045	Reduced impulse control	5159	PDGFRB	OMIM:615007
HP:5200045	Reduced impulse control	2314	FLII	ORPHA:819
HP:5200045	Reduced impulse control	23096	IQSEC2	ORPHA:819
HP:5200045	Reduced impulse control	5689	PSMB1	OMIM:620038
HP:5200045	Reduced impulse control	27102	EIF2AK1	OMIM:618878
HP:5200045	Reduced impulse control	3781	KCNN2	OMIM:619725
HP:5200045	Reduced impulse control	7086	TKT	ORPHA:488618
HP:5200045	Reduced impulse control	7086	TKT	OMIM:617044
HP:5200045	Reduced impulse control	55636	CHD7	ORPHA:138
HP:5200045	Reduced impulse control	9723	SEMA3E	ORPHA:138
HP:5200045	Reduced impulse control	7252	TSHB	ORPHA:90674
HP:5200045	Reduced impulse control	6660	SOX5	ORPHA:313892
HP:5200045	Reduced impulse control	57589	RIC1	OMIM:618761
HP:5200045	Reduced impulse control	3190	HNRNPK	OMIM:616580
HP:5200045	Reduced impulse control	347733	TUBB2B	ORPHA:300573
HP:5200045	Reduced impulse control	347733	TUBB2B	ORPHA:467166
HP:5200045	Reduced impulse control	51319	RSRC1	OMIM:618402
HP:5200045	Reduced impulse control	412	STS	ORPHA:281090
HP:5200045	Reduced impulse control	412	STS	ORPHA:461
HP:5200045	Reduced impulse control	1009	CDH11	OMIM:619736
HP:5200045	Reduced impulse control	3973	LHCGR	ORPHA:3000
HP:5200045	Reduced impulse control	2626	GATA4	ORPHA:251071
HP:5200045	Reduced impulse control	6899	TBX1	OMIM:188400
HP:5200045	Reduced impulse control	6899	TBX1	ORPHA:1727
HP:5200045	Reduced impulse control	6899	TBX1	ORPHA:567
HP:5200045	Reduced impulse control	4763	NF1	ORPHA:363700
HP:5200045	Reduced impulse control	833	CARS1	OMIM:618891
HP:5200045	Reduced impulse control	23036	ZNF292	OMIM:619188
HP:5200045	Reduced impulse control	57178	ZMIZ1	OMIM:618659
HP:5200045	Reduced impulse control	26057	ANKRD17	OMIM:619504
HP:5200045	Reduced impulse control	23007	PLCH1	ORPHA:93925
HP:5200045	Reduced impulse control	10528	NOP56	ORPHA:276198
HP:5200045	Reduced impulse control	3981	LIG4	ORPHA:235
HP:5200045	Reduced impulse control	54888	NSUN2	ORPHA:235
HP:5200045	Reduced impulse control	4953	ODC1	OMIM:619075
HP:5200045	Reduced impulse control	4953	ODC1	ORPHA:544488
HP:5200045	Reduced impulse control	2746	GLUD1	ORPHA:35878
HP:5200045	Reduced impulse control	30011	SH3KBP1	OMIM:300310
HP:5200045	Reduced impulse control	84138	SLC7A6OS	OMIM:619191
HP:5200045	Reduced impulse control	7025	NR2F1	ORPHA:401777
HP:5200045	Reduced impulse control	8493	PPM1D	OMIM:617450
HP:5200045	Reduced impulse control	26038	CHD5	OMIM:619873
HP:5200045	Reduced impulse control	29081	METTL5	OMIM:618665
HP:5200045	Reduced impulse control	55773	TBC1D23	OMIM:617695
HP:5200045	Reduced impulse control	9354	UBE4A	OMIM:619639
HP:5200045	Reduced impulse control	54499	TMCO1	OMIM:213980
HP:5200045	Reduced impulse control	22859	ADGRL1	OMIM:620065
HP:5200045	Reduced impulse control	55719	SLF2	OMIM:620184
HP:5200045	Reduced impulse control	23137	SMC5	OMIM:620185
HP:5200045	Reduced impulse control	8517	IKBKG	ORPHA:464
HP:5200045	Reduced impulse control	10236	HNRNPR	OMIM:620073
HP:5200045	Reduced impulse control	2312	FLG	ORPHA:461
HP:5200045	Reduced impulse control	8314	BAP1	OMIM:619762
HP:5200045	Reduced impulse control	7750	ZMYM2	OMIM:619522
HP:5200045	Reduced impulse control	27086	FOXP1	ORPHA:391372
HP:5200045	Reduced impulse control	27086	FOXP1	OMIM:613670
HP:5200045	Reduced impulse control	3481	IGF2	ORPHA:397590
HP:5200045	Reduced impulse control	1028	CDKN1C	ORPHA:397590
HP:5200045	Reduced impulse control	5324	PLAG1	ORPHA:397590
HP:5200045	Reduced impulse control	8091	HMGA2	ORPHA:397590
HP:5200045	Reduced impulse control	200424	TET3	OMIM:618798
HP:5200045	Reduced impulse control	55120	FANCL	OMIM:614083
HP:5200045	Reduced impulse control	9922	IQSEC1	OMIM:618687
HP:5200045	Reduced impulse control	57479	PRR12	OMIM:619539
HP:5200045	Reduced impulse control	9928	KIF14	OMIM:617914
HP:5200045	Reduced impulse control	1107	CHD3	OMIM:618205
HP:5200045	Reduced impulse control	27286	SRPX2	ORPHA:1945
HP:5200045	Reduced impulse control	2776	GNAQ	ORPHA:3205
HP:5200045	Reduced impulse control	29123	ANKRD11	OMIM:148050
HP:5200045	Reduced impulse control	5587	PRKD1	OMIM:617364
HP:5200045	Reduced impulse control	2245	FGD1	ORPHA:915
HP:5200045	Reduced impulse control	2245	FGD1	OMIM:305400
HP:5200045	Reduced impulse control	1642	DDB1	OMIM:619426
HP:5200045	Reduced impulse control	63895	PIEZO2	ORPHA:2461
HP:5200045	Reduced impulse control	1801	DPH1	ORPHA:459061
HP:5200045	Reduced impulse control	3720	JARID2	OMIM:620098
HP:5200045	Reduced impulse control	6909	TBX2	OMIM:618223
HP:5200045	Reduced impulse control	30000	TNPO2	OMIM:619556
HP:5200045	Reduced impulse control	123606	NIPA1	ORPHA:261183
HP:5200045	Reduced impulse control	7283	TUBG1	ORPHA:261183
HP:5200045	Reduced impulse control	81614	NIPA2	ORPHA:261183
HP:5200045	Reduced impulse control	57102	C12orf4	OMIM:618221
HP:5200045	Reduced impulse control	3067	HDC	OMIM:137580
HP:5200045	Reduced impulse control	114798	SLITRK1	OMIM:137580
HP:5200045	Reduced impulse control	26115	TANC2	OMIM:618906
HP:5200045	Reduced impulse control	5575	PRKAR1B	OMIM:619680
HP:5200045	Reduced impulse control	2581	GALC	ORPHA:206443
HP:5200045	Reduced impulse control	5515	PPP2CA	OMIM:618354
HP:5200045	Reduced impulse control	56521	DNAJC12	OMIM:617384
HP:5200045	Reduced impulse control	55262	TRAPPC14	OMIM:618351
HP:5200045	Reduced impulse control	23030	KDM4B	OMIM:619320
HP:5200045	Reduced impulse control	11151	CORO1A	OMIM:615401
HP:5200045	Reduced impulse control	2782	GNB1	OMIM:616973
HP:5200045	Reduced impulse control	23043	TNIK	OMIM:617028
HP:5200045	Reduced impulse control	55784	MCTP2	ORPHA:1596
HP:5200045	Reduced impulse control	51114	ZDHHC9	ORPHA:776
HP:5200045	Reduced impulse control	65109	UPF3B	ORPHA:776
HP:5200045	Reduced impulse control	4952	OCRL	ORPHA:534
HP:5200045	Reduced impulse control	4131	MAP1B	OMIM:618918
HP:5200045	Reduced impulse control	84679	SLC9A7	OMIM:301024
HP:5200045	Reduced impulse control	2592	GALT	ORPHA:79239
HP:5200045	Reduced impulse control	1741	DLG3	OMIM:300850
HP:5200045	Reduced impulse control	7846	TUBA1A	ORPHA:467166
HP:5200045	Reduced impulse control	10381	TUBB3	ORPHA:467166
HP:5200045	Reduced impulse control	6609	SMPD1	ORPHA:77293
HP:5200045	Reduced impulse control	57551	TAOK1	OMIM:619575
HP:5200045	Reduced impulse control	9969	MED13	OMIM:618009
HP:5200045	Reduced impulse control	1312	COMT	ORPHA:567
HP:5200045	Reduced impulse control	221037	JMJD1C	ORPHA:567
HP:5200045	Reduced impulse control	2812	GP1BB	ORPHA:567
HP:5200045	Reduced impulse control	6239	RREB1	ORPHA:567
HP:5200045	Reduced impulse control	7290	HIRA	ORPHA:567
HP:5200045	Reduced impulse control	9632	SEC24C	ORPHA:567
HP:5200045	Reduced impulse control	7353	UFD1	ORPHA:567
HP:5200045	Reduced impulse control	421	ARVCF	ORPHA:567
HP:5200045	Reduced impulse control	5582	PRKCG	OMIM:605361
HP:5200045	Reduced impulse control	51185	CRBN	OMIM:607417
HP:5200045	Reduced impulse control	1137	CHRNA4	ORPHA:98784
HP:5200045	Reduced impulse control	1135	CHRNA2	ORPHA:98784
HP:5200045	Reduced impulse control	57010	CABP4	ORPHA:98784
HP:5200045	Reduced impulse control	1141	CHRNB2	ORPHA:98784
HP:5200045	Reduced impulse control	57582	KCNT1	ORPHA:98784
HP:5200045	Reduced impulse control	1392	CRH	ORPHA:98784
HP:5200045	Reduced impulse control	7703	PCGF2	OMIM:618371
HP:5200045	Reduced impulse control	1781	DYNC1I2	OMIM:618492
HP:5200045	Reduced impulse control	6907	TBL1X	OMIM:301033
HP:5200045	Reduced impulse control	10524	KAT5	OMIM:619103
HP:5200045	Reduced impulse control	79576	NKAP	OMIM:301039
HP:5200045	Reduced impulse control	3188	HNRNPH2	OMIM:300986
HP:5200045	Reduced impulse control	121278	TPH2	OMIM:613003
HP:5200045	Reduced impulse control	51729	WBP11	OMIM:619227
HP:5200045	Reduced impulse control	55186	SLC25A36	OMIM:620211
HP:5200045	Reduced impulse control	2313	FLI1	ORPHA:2308
HP:5200045	Reduced impulse control	7074	TIAM1	OMIM:619908
HP:5200045	Reduced impulse control	23476	BRD4	ORPHA:199
HP:5200045	Reduced impulse control	9126	SMC3	ORPHA:199
HP:5200045	Reduced impulse control	25836	NIPBL	ORPHA:199
HP:5200045	Reduced impulse control	55869	HDAC8	ORPHA:199
HP:5200045	Reduced impulse control	5885	RAD21	ORPHA:199
HP:5200045	Reduced impulse control	9757	KMT2B	ORPHA:589618
HP:5200045	Reduced impulse control	9757	KMT2B	OMIM:619934
HP:5200045	Reduced impulse control	7204	TRIO	OMIM:618825
HP:5200045	Reduced impulse control	7204	TRIO	OMIM:617061
HP:5200045	Reduced impulse control	7204	TRIO	ORPHA:476126
HP:5200045	Reduced impulse control	55526	DHTKD1	OMIM:204750
HP:5200045	Reduced impulse control	4659	PPP1R12A	OMIM:618820
HP:5200045	Reduced impulse control	3839	KPNA3	OMIM:620106
HP:5200045	Reduced impulse control	1457	CSNK2A1	OMIM:617062
HP:5200045	Reduced impulse control	6872	TAF1	OMIM:300966
HP:5200045	Reduced impulse control	8567	MADD	OMIM:619005
HP:5200045	Reduced impulse control	22871	NLGN1	OMIM:618830
HP:5200045	Reduced impulse control	6472	SHMT2	OMIM:619121
HP:5200045	Reduced impulse control	23112	TNRC6B	OMIM:619243
HP:5200045	Reduced impulse control	81562	LMAN2L	OMIM:617863
HP:5200045	Reduced impulse control	259266	ASPM	OMIM:608716
HP:5200045	Reduced impulse control	2177	FANCD2	OMIM:227646
HP:5200045	Reduced impulse control	3739	KCNA4	OMIM:618284
HP:5200045	Reduced impulse control	10020	GNE	OMIM:269921
HP:5200045	Reduced impulse control	10020	GNE	ORPHA:3166
HP:5200045	Reduced impulse control	51780	KDM3B	OMIM:618846
HP:5200045	Reduced impulse control	51317	PHF21A	OMIM:618725
HP:5200045	Reduced impulse control	5116	PCNT	ORPHA:2637
HP:5200045	Reduced impulse control	203190	LGI3	OMIM:620007
HP:5200045	Reduced impulse control	4693	NDP	ORPHA:649
HP:5200045	Reduced impulse control	11011	TLK2	OMIM:618050
HP:5200045	Reduced impulse control	1678	TIMM8A	ORPHA:52368
HP:5200045	Reduced impulse control	129285	PPP1R21	OMIM:619383
HP:5200045	Reduced impulse control	55553	SOX6	OMIM:618971
HP:5200045	Reduced impulse control	27161	AGO2	OMIM:619149
HP:5200045	Reduced impulse control	2261	FGFR3	OMIM:602849
HP:5200045	Reduced impulse control	84148	KAT8	OMIM:618974
HP:5200045	Reduced impulse control	64682	ANAPC1	ORPHA:221008
HP:5200045	Reduced impulse control	57688	ZSWIM6	OMIM:617865
HP:5200045	Reduced impulse control	283209	PGM2L1	OMIM:620191
HP:5200045	Reduced impulse control	1725	DHPS	OMIM:618480
HP:5200045	Reduced impulse control	55250	ELP2	OMIM:617270
HP:5200045	Reduced impulse control	8621	CDK13	OMIM:617360
HP:5200045	Reduced impulse control	55870	ASH1L	OMIM:617796
HP:5200045	Reduced impulse control	57680	CHD8	OMIM:615032
HP:5200045	Reduced impulse control	38	ACAT1	ORPHA:134
HP:5200045	Reduced impulse control	6597	SMARCA4	ORPHA:1465
HP:5200045	Reduced impulse control	6598	SMARCB1	ORPHA:1465
HP:5200045	Reduced impulse control	6659	SOX4	ORPHA:1465
HP:5200045	Reduced impulse control	8289	ARID1A	ORPHA:1465
HP:5200045	Reduced impulse control	5977	DPF2	ORPHA:1465
HP:5200045	Reduced impulse control	6601	SMARCC2	ORPHA:1465
HP:5200045	Reduced impulse control	6602	SMARCD1	ORPHA:1465
HP:5200045	Reduced impulse control	57492	ARID1B	ORPHA:1465
HP:5200045	Reduced impulse control	196528	ARID2	ORPHA:1465
HP:5200045	Reduced impulse control	6605	SMARCE1	ORPHA:1465
HP:5200045	Reduced impulse control	6664	SOX11	ORPHA:1465
HP:5200045	Reduced impulse control	2887	GRB10	ORPHA:96182
HP:5200045	Reduced impulse control	55690	PACS1	ORPHA:329224
HP:5200045	Reduced impulse control	9056	SLC7A7	ORPHA:470
HP:5200045	Reduced impulse control	4212	MEIS2	OMIM:600987
HP:5200045	Reduced impulse control	3766	KCNJ10	ORPHA:199343
HP:5200045	Reduced impulse control	3766	KCNJ10	OMIM:612780
HP:5200045	Reduced impulse control	6559	SLC12A3	OMIM:263800
HP:5200045	Reduced impulse control	6559	SLC12A3	ORPHA:358
HP:5200045	Reduced impulse control	1188	CLCNKB	ORPHA:358
HP:5200045	Reduced impulse control	60482	SLC5A7	ORPHA:98914
HP:5200045	Reduced impulse control	4649	MYO9A	ORPHA:98914
HP:5200045	Reduced impulse control	1305	COL13A1	ORPHA:98914
HP:5200045	Reduced impulse control	1103	CHAT	ORPHA:98914
HP:5200045	Reduced impulse control	6576	SLC25A1	ORPHA:98914
HP:5200045	Reduced impulse control	6843	VAMP1	ORPHA:98914
HP:5200045	Reduced impulse control	375790	AGRN	ORPHA:98914
HP:5200045	Reduced impulse control	127833	SYT2	ORPHA:98914
HP:5200045	Reduced impulse control	6572	SLC18A3	ORPHA:98914
HP:5200045	Reduced impulse control	6616	SNAP25	ORPHA:98914
HP:5200045	Reduced impulse control	374879	ZNF699	OMIM:619488
HP:5200045	Reduced impulse control	6329	SCN4A	ORPHA:99734
HP:5200045	Reduced impulse control	3064	HTT	ORPHA:399
HP:5200045	Reduced impulse control	6515	SLC2A3	ORPHA:399
HP:5200045	Reduced impulse control	6774	STAT3	ORPHA:520
HP:5200045	Reduced impulse control	5371	PML	ORPHA:520
HP:5200045	Reduced impulse control	5914	RARA	ORPHA:520
HP:5200045	Reduced impulse control	359948	IRF2BP2	ORPHA:520
HP:5200045	Reduced impulse control	81608	FIP1L1	ORPHA:520
HP:5200045	Reduced impulse control	4869	NPM1	ORPHA:520
HP:5200045	Reduced impulse control	5573	PRKAR1A	ORPHA:520
HP:5200045	Reduced impulse control	54880	BCOR	ORPHA:520
HP:5200045	Reduced impulse control	64859	NABP1	ORPHA:520
HP:5200045	Reduced impulse control	6777	STAT5B	ORPHA:520
HP:5200045	Reduced impulse control	4926	NUMA1	ORPHA:520
HP:5200045	Reduced impulse control	7704	ZBTB16	ORPHA:520
HP:5200045	Reduced impulse control	79718	TBL1XR1	ORPHA:520
HP:5200045	Reduced impulse control	8910	SGCE	OMIM:159900
HP:5200045	Reduced impulse control	23592	LEMD3	ORPHA:166119
HP:5200045	Reduced impulse control	50833	TAS2R16	OMIM:103780
HP:5200045	Reduced impulse control	3356	HTR2A	OMIM:103780
HP:5200045	Reduced impulse control	125	ADH1B	OMIM:103780
HP:5200045	Reduced impulse control	126	ADH1C	OMIM:103780
HP:5200045	Reduced impulse control	2555	GABRA2	OMIM:103780
HP:5200045	Reduced impulse control	7187	TRAF3	ORPHA:1930
HP:5200045	Reduced impulse control	81622	UNC93B1	ORPHA:1930
HP:5200045	Reduced impulse control	148022	TICAM1	ORPHA:1930
HP:5200045	Reduced impulse control	7098	TLR3	ORPHA:1930
HP:5200045	Reduced impulse control	29110	TBK1	ORPHA:1930
HP:5200045	Reduced impulse control	283489	CHAMP1	OMIM:616579
HP:5200045	Reduced impulse control	6595	SMARCA2	OMIM:619293
HP:5200045	Reduced impulse control	83479	DDX59	OMIM:174300
HP:5200045	Reduced impulse control	6804	STX1A	ORPHA:904
HP:5200045	Reduced impulse control	7461	CLIP2	ORPHA:904
HP:5200045	Reduced impulse control	84277	DNAJC30	ORPHA:904
HP:5200045	Reduced impulse control	8468	FKBP6	ORPHA:904
HP:5200045	Reduced impulse control	5982	RFC2	ORPHA:904
HP:5200045	Reduced impulse control	2969	GTF2I	ORPHA:904
HP:5200045	Reduced impulse control	3984	LIMK1	ORPHA:904
HP:5200045	Reduced impulse control	9569	GTF2IRD1	ORPHA:904
HP:5200045	Reduced impulse control	155382	VPS37D	ORPHA:904
HP:5200045	Reduced impulse control	155368	METTL27	ORPHA:904
HP:5200045	Reduced impulse control	114049	BUD23	ORPHA:904
HP:5200045	Reduced impulse control	7458	EIF4H	ORPHA:904
HP:5200045	Reduced impulse control	84163	GTF2IRD2	ORPHA:904
HP:5200045	Reduced impulse control	9275	BCL7B	ORPHA:904
HP:5200045	Reduced impulse control	26608	TBL2	ORPHA:904
HP:5200045	Reduced impulse control	653361	NCF1	ORPHA:904
HP:5200045	Reduced impulse control	135886	TMEM270	ORPHA:904
HP:5200045	Reduced impulse control	51085	MLXIPL	ORPHA:904
HP:5200045	Reduced impulse control	9031	BAZ1B	ORPHA:904
HP:5200045	Reduced impulse control	2006	ELN	ORPHA:904
HP:5200045	Reduced impulse control	5283	PIGH	OMIM:618010
HP:5200045	Reduced impulse control	7874	USP7	ORPHA:500055
HP:5200045	Reduced impulse control	139411	PTCHD1	OMIM:300830
HP:5200045	Reduced impulse control	56896	DPYSL5	OMIM:619435
HP:5200045	Reduced impulse control	1213	CLTC	OMIM:617854
HP:5200045	Reduced impulse control	1213	CLTC	ORPHA:442835
HP:5200045	Reduced impulse control	51126	NAA20	OMIM:619717
HP:5200045	Reduced impulse control	6507	SLC1A3	ORPHA:2131
HP:5200045	Reduced impulse control	477	ATP1A2	ORPHA:2131
HP:5200045	Reduced impulse control	477	ATP1A2	ORPHA:442835
HP:5200045	Reduced impulse control	478	ATP1A3	ORPHA:2131
HP:5200045	Reduced impulse control	478	ATP1A3	ORPHA:442835
HP:5200045	Reduced impulse control	6335	SCN9A	ORPHA:33069
HP:5200045	Reduced impulse control	2554	GABRA1	ORPHA:33069
HP:5200045	Reduced impulse control	2566	GABRG2	ORPHA:33069
HP:5200045	Reduced impulse control	2566	GABRG2	ORPHA:442835
HP:5200045	Reduced impulse control	81839	VANGL1	ORPHA:3027
HP:5200045	Reduced impulse control	80199	FUZ	ORPHA:3027
HP:5200045	Reduced impulse control	79783	SUGCT	ORPHA:35706
HP:5200045	Reduced impulse control	4841	NONO	OMIM:300967
HP:5200045	Reduced impulse control	28514	DLL1	ORPHA:280195
HP:5200045	Reduced impulse control	2253	FGF8	ORPHA:280195
HP:5200045	Reduced impulse control	6496	SIX3	ORPHA:280195
HP:5200045	Reduced impulse control	7050	TGIF1	ORPHA:280195
HP:5200045	Reduced impulse control	4838	NODAL	ORPHA:280195
HP:5200045	Reduced impulse control	6469	SHH	ORPHA:280195
HP:5200045	Reduced impulse control	7546	ZIC2	ORPHA:280195
HP:5200045	Reduced impulse control	6491	STIL	ORPHA:280195
HP:5200045	Reduced impulse control	2619	GAS1	ORPHA:280195
HP:5200045	Reduced impulse control	84976	DISP1	ORPHA:280195
HP:5200045	Reduced impulse control	2736	GLI2	ORPHA:280195
HP:5200045	Reduced impulse control	8928	FOXH1	ORPHA:280195
HP:5200045	Reduced impulse control	50937	CDON	ORPHA:280195
HP:5200045	Reduced impulse control	23291	FBXW11	OMIM:618914
HP:5200045	Reduced impulse control	1786	DNMT1	OMIM:614116
HP:5200045	Reduced impulse control	57082	KNL1	OMIM:604321
HP:5200045	Reduced impulse control	64601	VPS16	OMIM:619291
HP:5200045	Reduced impulse control	4128	MAOA	OMIM:300615
HP:5200045	Reduced impulse control	63035	BCORL1	OMIM:301029
HP:5200045	Reduced impulse control	4781	NFIB	OMIM:618286
HP:5200045	Reduced impulse control	55023	PHIP	OMIM:617991
HP:5200045	Reduced impulse control	55023	PHIP	ORPHA:589905
HP:5200045	Reduced impulse control	1000	CDH2	OMIM:618929
HP:5200045	Reduced impulse control	2898	GRIK2	OMIM:619580
HP:5200045	Reduced impulse control	5422	POLA1	OMIM:301030
HP:5200045	Reduced impulse control	5649	RELN	ORPHA:101046
HP:5200045	Reduced impulse control	9211	LGI1	ORPHA:101046
HP:5200045	Reduced impulse control	9681	DEPDC5	ORPHA:101046
HP:5200045	Reduced impulse control	84274	COQ5	OMIM:619028
HP:5200045	Reduced impulse control	83636	C19orf12	OMIM:614298
HP:5200045	Reduced impulse control	341208	HEPHL1	OMIM:261990
HP:5200045	Reduced impulse control	22995	CEP152	OMIM:614852
HP:5200045	Reduced impulse control	2783	GNB2	OMIM:619503
HP:5200045	Reduced impulse control	3737	KCNA2	ORPHA:442835
HP:5200045	Reduced impulse control	8120	AP3B2	ORPHA:442835
HP:5200045	Reduced impulse control	523	ATP6V1A	ORPHA:442835
HP:5200045	Reduced impulse control	10991	SLC38A3	ORPHA:442835
HP:5200045	Reduced impulse control	22906	TRAK1	ORPHA:442835
HP:5200045	Reduced impulse control	1917	EEF1A2	ORPHA:442835
HP:5200045	Reduced impulse control	2561	GABRB2	ORPHA:442835
HP:5200045	Reduced impulse control	7532	YWHAG	ORPHA:442835
HP:5200045	Reduced impulse control	79876	UBA5	ORPHA:442835
HP:5200045	Reduced impulse control	6328	SCN3A	ORPHA:442835
HP:5200045	Reduced impulse control	2558	GABRA5	ORPHA:442835
HP:5200045	Reduced impulse control	781	CACNA2D1	ORPHA:442835
HP:5200045	Reduced impulse control	2906	GRIN2D	ORPHA:442835
HP:5200045	Reduced impulse control	116150	NUS1	ORPHA:442835
HP:5200045	Reduced impulse control	10659	CELF2	ORPHA:442835
HP:5200045	Reduced impulse control	774	CACNA1B	ORPHA:442835
HP:5200045	Reduced impulse control	51741	WWOX	ORPHA:442835
HP:5200045	Reduced impulse control	23334	SZT2	ORPHA:442835
HP:5200045	Reduced impulse control	51412	ACTL6B	ORPHA:442835
HP:5200045	Reduced impulse control	348980	HCN1	ORPHA:442835
HP:5200045	Reduced impulse control	6506	SLC1A2	ORPHA:442835
HP:5200045	Reduced impulse control	2258	FGF13	ORPHA:442835
HP:5200045	Reduced impulse control	3745	KCNB1	ORPHA:442835
HP:5200045	Reduced impulse control	284111	SLC13A5	ORPHA:442835
HP:5200045	Reduced impulse control	25977	NECAP1	ORPHA:442835
HP:5200045	Reduced impulse control	16	AARS1	ORPHA:442835
HP:5200045	Reduced impulse control	6334	SCN8A	ORPHA:442835
HP:5200045	Reduced impulse control	55152	DALRD3	ORPHA:442835
HP:5200045	Reduced impulse control	26999	CYFIP2	ORPHA:442835
HP:5200045	Reduced impulse control	25973	PARS2	ORPHA:442835
HP:5200045	Reduced impulse control	23097	CDK19	ORPHA:442835
HP:5200045	Reduced impulse control	64801	ARV1	ORPHA:442835
HP:5200045	Reduced impulse control	79947	DHDDS	ORPHA:442835
HP:5200045	Reduced impulse control	5530	PPP3CA	ORPHA:442835
HP:5200045	Reduced impulse control	339453	TMEM240	OMIM:607454
HP:5200045	Reduced impulse control	51574	LARP7	ORPHA:319671
HP:5200045	Reduced impulse control	23590	PDSS1	OMIM:614651
HP:5200046	Sensory behavioral abnormality	1497	CTNS	OMIM:219800
HP:5200046	Sensory behavioral abnormality	1497	CTNS	OMIM:219750
HP:5200046	Sensory behavioral abnormality	1497	CTNS	ORPHA:411629
HP:5200046	Sensory behavioral abnormality	1497	CTNS	OMIM:219900
HP:5200046	Sensory behavioral abnormality	1497	CTNS	ORPHA:411641
HP:5200046	Sensory behavioral abnormality	1497	CTNS	ORPHA:411634
HP:5200046	Sensory behavioral abnormality	778	CACNA1F	OMIM:300476
HP:5200046	Sensory behavioral abnormality	778	CACNA1F	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	1161	ERCC8	ORPHA:90324
HP:5200046	Sensory behavioral abnormality	1161	ERCC8	ORPHA:90321
HP:5200046	Sensory behavioral abnormality	1161	ERCC8	ORPHA:90322
HP:5200046	Sensory behavioral abnormality	2074	ERCC6	ORPHA:90324
HP:5200046	Sensory behavioral abnormality	2074	ERCC6	ORPHA:90321
HP:5200046	Sensory behavioral abnormality	2074	ERCC6	ORPHA:90322
HP:5200046	Sensory behavioral abnormality	7299	TYR	OMIM:203100
HP:5200046	Sensory behavioral abnormality	7299	TYR	OMIM:606952
HP:5200046	Sensory behavioral abnormality	7299	TYR	ORPHA:79431
HP:5200046	Sensory behavioral abnormality	7299	TYR	ORPHA:79434
HP:5200046	Sensory behavioral abnormality	4166	CHST6	ORPHA:98969
HP:5200046	Sensory behavioral abnormality	4166	CHST6	OMIM:217800
HP:5200046	Sensory behavioral abnormality	2780	GNAT2	OMIM:613856
HP:5200046	Sensory behavioral abnormality	2780	GNAT2	ORPHA:1871
HP:5200046	Sensory behavioral abnormality	2780	GNAT2	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	4047	LSS	ORPHA:2850
HP:5200046	Sensory behavioral abnormality	197	AHSG	ORPHA:2850
HP:5200046	Sensory behavioral abnormality	3694	ITGB6	ORPHA:2850
HP:5200046	Sensory behavioral abnormality	5111	PCNA	OMIM:615919
HP:5200046	Sensory behavioral abnormality	5111	PCNA	ORPHA:438134
HP:5200046	Sensory behavioral abnormality	7045	TGFBI	ORPHA:98962
HP:5200046	Sensory behavioral abnormality	7045	TGFBI	ORPHA:98964
HP:5200046	Sensory behavioral abnormality	7045	TGFBI	ORPHA:98960
HP:5200046	Sensory behavioral abnormality	7045	TGFBI	OMIM:608470
HP:5200046	Sensory behavioral abnormality	7045	TGFBI	OMIM:602082
HP:5200046	Sensory behavioral abnormality	2072	ERCC4	ORPHA:90321
HP:5200046	Sensory behavioral abnormality	2072	ERCC4	ORPHA:910
HP:5200046	Sensory behavioral abnormality	2067	ERCC1	ORPHA:90322
HP:5200046	Sensory behavioral abnormality	6720	SREBF1	OMIM:158310
HP:5200046	Sensory behavioral abnormality	6720	SREBF1	OMIM:619016
HP:5200046	Sensory behavioral abnormality	54714	CNGB3	OMIM:262300
HP:5200046	Sensory behavioral abnormality	54714	CNGB3	ORPHA:1871
HP:5200046	Sensory behavioral abnormality	54714	CNGB3	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	162	AP1B1	OMIM:242150
HP:5200046	Sensory behavioral abnormality	1638	DCT	OMIM:619165
HP:5200046	Sensory behavioral abnormality	755	CFAP410	OMIM:617547
HP:5200046	Sensory behavioral abnormality	755	CFAP410	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	26504	CNNM4	ORPHA:1873
HP:5200046	Sensory behavioral abnormality	26504	CNNM4	OMIM:217080
HP:5200046	Sensory behavioral abnormality	8842	PROM1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	8842	PROM1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	22926	ATF6	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	22926	ATF6	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	22926	ATF6	OMIM:616517
HP:5200046	Sensory behavioral abnormality	64802	NMNAT1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	64802	NMNAT1	OMIM:608553
HP:5200046	Sensory behavioral abnormality	84839	RAX2	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	84839	RAX2	OMIM:610381
HP:5200046	Sensory behavioral abnormality	57096	RPGRIP1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	57096	RPGRIP1	OMIM:608194
HP:5200046	Sensory behavioral abnormality	57096	RPGRIP1	OMIM:613826
HP:5200046	Sensory behavioral abnormality	24	ABCA4	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	24	ABCA4	ORPHA:791
HP:5200046	Sensory behavioral abnormality	1261	CNGA3	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	1261	CNGA3	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	1261	CNGA3	OMIM:216900
HP:5200046	Sensory behavioral abnormality	92211	CDHR1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	92211	CDHR1	OMIM:613660
HP:5200046	Sensory behavioral abnormality	92211	CDHR1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5956	OPN1LW	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	5956	OPN1LW	OMIM:303700
HP:5200046	Sensory behavioral abnormality	5956	OPN1LW	ORPHA:16
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	ORPHA:52427
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	OMIM:613105
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	OMIM:169150
HP:5200046	Sensory behavioral abnormality	5961	PRPH2	OMIM:608161
HP:5200046	Sensory behavioral abnormality	8754	ADAM9	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	3000	GUCY2D	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	3000	GUCY2D	OMIM:204000
HP:5200046	Sensory behavioral abnormality	3000	GUCY2D	OMIM:601777
HP:5200046	Sensory behavioral abnormality	22999	RIMS1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	128338	DRAM2	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	128338	DRAM2	OMIM:616502
HP:5200046	Sensory behavioral abnormality	6103	RPGR	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	6103	RPGR	OMIM:304020
HP:5200046	Sensory behavioral abnormality	6103	RPGR	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	6103	RPGR	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6103	RPGR	OMIM:300029
HP:5200046	Sensory behavioral abnormality	2652	OPN1MW	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	2652	OPN1MW	OMIM:303700
HP:5200046	Sensory behavioral abnormality	2652	OPN1MW	ORPHA:16
HP:5200046	Sensory behavioral abnormality	1406	CRX	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	1406	CRX	ORPHA:791
HP:5200046	Sensory behavioral abnormality	1406	CRX	OMIM:613829
HP:5200046	Sensory behavioral abnormality	9094	UNC119	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	93589	CACNA2D4	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	93589	CACNA2D4	OMIM:610478
HP:5200046	Sensory behavioral abnormality	2978	GUCA1A	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	2978	GUCA1A	ORPHA:1871
HP:5200046	Sensory behavioral abnormality	2978	GUCA1A	OMIM:602093
HP:5200046	Sensory behavioral abnormality	282809	POC1B	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	64218	SEMA4A	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	64218	SEMA4A	OMIM:610283
HP:5200046	Sensory behavioral abnormality	64218	SEMA4A	ORPHA:791
HP:5200046	Sensory behavioral abnormality	83394	PITPNM3	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	83394	PITPNM3	OMIM:600977
HP:5200046	Sensory behavioral abnormality	23093	TTLL5	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	83723	TLCD3B	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	83723	TLCD3B	OMIM:619531
HP:5200046	Sensory behavioral abnormality	157657	CFAP418	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	157657	CFAP418	OMIM:614500
HP:5200046	Sensory behavioral abnormality	157657	CFAP418	ORPHA:791
HP:5200046	Sensory behavioral abnormality	23746	AIPL1	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	9364	RAB28	ORPHA:1872
HP:5200046	Sensory behavioral abnormality	5146	PDE6C	ORPHA:1871
HP:5200046	Sensory behavioral abnormality	5146	PDE6C	OMIM:613093
HP:5200046	Sensory behavioral abnormality	5146	PDE6C	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	224	ALDH3A2	ORPHA:816
HP:5200046	Sensory behavioral abnormality	224	ALDH3A2	OMIM:270200
HP:5200046	Sensory behavioral abnormality	56623	INPP5E	ORPHA:75858
HP:5200046	Sensory behavioral abnormality	169522	KCNV2	OMIM:610356
HP:5200046	Sensory behavioral abnormality	200576	PIKFYVE	OMIM:121850
HP:5200046	Sensory behavioral abnormality	63915	BLOC1S5	OMIM:619172
HP:5200046	Sensory behavioral abnormality	3105	HLA-A	ORPHA:179
HP:5200046	Sensory behavioral abnormality	4072	EPCAM	ORPHA:92050
HP:5200046	Sensory behavioral abnormality	105371045	PERCC1	ORPHA:92050
HP:5200046	Sensory behavioral abnormality	51360	MBTPS2	ORPHA:2273
HP:5200046	Sensory behavioral abnormality	51360	MBTPS2	OMIM:308800
HP:5200046	Sensory behavioral abnormality	51360	MBTPS2	OMIM:308205
HP:5200046	Sensory behavioral abnormality	4137	MAPT	ORPHA:240071
HP:5200046	Sensory behavioral abnormality	4137	MAPT	OMIM:601104
HP:5200046	Sensory behavioral abnormality	283652	SLC24A5	OMIM:113750
HP:5200046	Sensory behavioral abnormality	283652	SLC24A5	ORPHA:370097
HP:5200046	Sensory behavioral abnormality	79797	ZNF408	OMIM:616469
HP:5200046	Sensory behavioral abnormality	79797	ZNF408	ORPHA:791
HP:5200046	Sensory behavioral abnormality	64834	ELOVL1	OMIM:618527
HP:5200046	Sensory behavioral abnormality	3850	KRT3	OMIM:618767
HP:5200046	Sensory behavioral abnormality	7840	ALMS1	OMIM:203800
HP:5200046	Sensory behavioral abnormality	7840	ALMS1	ORPHA:64
HP:5200046	Sensory behavioral abnormality	80326	WNT10A	OMIM:257980
HP:5200046	Sensory behavioral abnormality	80326	WNT10A	OMIM:150400
HP:5200046	Sensory behavioral abnormality	8546	AP3B1	OMIM:608233
HP:5200046	Sensory behavioral abnormality	1130	LYST	ORPHA:167
HP:5200046	Sensory behavioral abnormality	1130	LYST	OMIM:214500
HP:5200046	Sensory behavioral abnormality	1678	TIMM8A	OMIM:304700
HP:5200046	Sensory behavioral abnormality	1678	TIMM8A	ORPHA:52368
HP:5200046	Sensory behavioral abnormality	1420	CRYGC	OMIM:604307
HP:5200046	Sensory behavioral abnormality	1282	COL4A1	OMIM:180000
HP:5200046	Sensory behavioral abnormality	4053	LTBP2	OMIM:613086
HP:5200046	Sensory behavioral abnormality	5333	PLCD1	ORPHA:2387
HP:5200046	Sensory behavioral abnormality	1474	CST6	OMIM:618535
HP:5200046	Sensory behavioral abnormality	10804	GJB6	ORPHA:477
HP:5200046	Sensory behavioral abnormality	10804	GJB6	OMIM:129500
HP:5200046	Sensory behavioral abnormality	2706	GJB2	ORPHA:477
HP:5200046	Sensory behavioral abnormality	2706	GJB2	OMIM:148210
HP:5200046	Sensory behavioral abnormality	3769	KCNJ13	OMIM:614186
HP:5200046	Sensory behavioral abnormality	5149	PDE6H	OMIM:610024
HP:5200046	Sensory behavioral abnormality	5149	PDE6H	ORPHA:49382
HP:5200046	Sensory behavioral abnormality	3035	HARS1	OMIM:614504
HP:5200046	Sensory behavioral abnormality	10908	PNPLA6	OMIM:215470
HP:5200046	Sensory behavioral abnormality	6017	RLBP1	ORPHA:52427
HP:5200046	Sensory behavioral abnormality	6017	RLBP1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6010	RHO	ORPHA:52427
HP:5200046	Sensory behavioral abnormality	6010	RHO	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5959	RDH5	ORPHA:52427
HP:5200046	Sensory behavioral abnormality	3098	HK1	OMIM:617460
HP:5200046	Sensory behavioral abnormality	79803	HPS6	OMIM:614075
HP:5200046	Sensory behavioral abnormality	3859	KRT12	OMIM:122100
HP:5200046	Sensory behavioral abnormality	6121	RPE65	OMIM:204100
HP:5200046	Sensory behavioral abnormality	6121	RPE65	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6121	RPE65	ORPHA:364055
HP:5200046	Sensory behavioral abnormality	326	AIRE	ORPHA:3453
HP:5200046	Sensory behavioral abnormality	57192	MCOLN1	ORPHA:578
HP:5200046	Sensory behavioral abnormality	57192	MCOLN1	OMIM:252650
HP:5200046	Sensory behavioral abnormality	10002	NR2E3	OMIM:611131
HP:5200046	Sensory behavioral abnormality	10002	NR2E3	ORPHA:791
HP:5200046	Sensory behavioral abnormality	340024	SLC6A19	ORPHA:2116
HP:5200046	Sensory behavioral abnormality	57393	CLTRN	ORPHA:2116
HP:5200046	Sensory behavioral abnormality	83938	LRMDA	OMIM:615179
HP:5200046	Sensory behavioral abnormality	11152	WDR45	OMIM:615179
HP:5200046	Sensory behavioral abnormality	84168	ANTXR1	OMIM:230740
HP:5200046	Sensory behavioral abnormality	84131	CEP78	OMIM:617236
HP:5200046	Sensory behavioral abnormality	1634	DCN	OMIM:610048
HP:5200046	Sensory behavioral abnormality	404672	GTF2H5	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	833	CARS1	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	2068	ERCC2	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	2068	ERCC2	ORPHA:910
HP:5200046	Sensory behavioral abnormality	2068	ERCC2	OMIM:601675
HP:5200046	Sensory behavioral abnormality	2068	ERCC2	OMIM:278730
HP:5200046	Sensory behavioral abnormality	7737	RNF113A	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	136647	MPLKIP	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	6897	TARS1	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	2071	ERCC3	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	2071	ERCC3	ORPHA:910
HP:5200046	Sensory behavioral abnormality	2961	GTF2E2	ORPHA:33364
HP:5200046	Sensory behavioral abnormality	2303	FOXC2	ORPHA:33001
HP:5200046	Sensory behavioral abnormality	2303	FOXC2	OMIM:153400
HP:5200046	Sensory behavioral abnormality	64127	NOD2	ORPHA:90340
HP:5200046	Sensory behavioral abnormality	5429	POLH	ORPHA:90342
HP:5200046	Sensory behavioral abnormality	5429	POLH	OMIM:278750
HP:5200046	Sensory behavioral abnormality	6314	ATXN7	ORPHA:94147
HP:5200046	Sensory behavioral abnormality	8943	AP3D1	ORPHA:54
HP:5200046	Sensory behavioral abnormality	8943	AP3D1	ORPHA:1000
HP:5200046	Sensory behavioral abnormality	4935	GPR143	ORPHA:54
HP:5200046	Sensory behavioral abnormality	4935	GPR143	OMIM:300500
HP:5200046	Sensory behavioral abnormality	8481	OFD1	OMIM:300424
HP:5200046	Sensory behavioral abnormality	8481	OFD1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	58495	OVOL2	OMIM:122000
HP:5200046	Sensory behavioral abnormality	58495	OVOL2	ORPHA:98973
HP:5200046	Sensory behavioral abnormality	2697	GJA1	ORPHA:1010
HP:5200046	Sensory behavioral abnormality	4157	MC1R	ORPHA:79432
HP:5200046	Sensory behavioral abnormality	4948	OCA2	ORPHA:79432
HP:5200046	Sensory behavioral abnormality	6935	ZEB1	ORPHA:98973
HP:5200046	Sensory behavioral abnormality	30813	VSX1	ORPHA:98973
HP:5200046	Sensory behavioral abnormality	79977	GRHL2	ORPHA:98973
HP:5200046	Sensory behavioral abnormality	1296	COL8A2	ORPHA:98973
HP:5200046	Sensory behavioral abnormality	7507	XPA	ORPHA:910
HP:5200046	Sensory behavioral abnormality	7508	XPC	ORPHA:910
HP:5200046	Sensory behavioral abnormality	7508	XPC	OMIM:278720
HP:5200046	Sensory behavioral abnormality	1643	DDB2	ORPHA:910
HP:5200046	Sensory behavioral abnormality	1643	DDB2	OMIM:278740
HP:5200046	Sensory behavioral abnormality	2073	ERCC5	ORPHA:910
HP:5200046	Sensory behavioral abnormality	51151	SLC45A2	ORPHA:79435
HP:5200046	Sensory behavioral abnormality	149233	IL23R	ORPHA:117
HP:5200046	Sensory behavioral abnormality	6775	STAT4	ORPHA:117
HP:5200046	Sensory behavioral abnormality	3586	IL10	ORPHA:117
HP:5200046	Sensory behavioral abnormality	4210	MEFV	ORPHA:117
HP:5200046	Sensory behavioral abnormality	1230	CCR1	ORPHA:117
HP:5200046	Sensory behavioral abnormality	355	FAS	ORPHA:117
HP:5200046	Sensory behavioral abnormality	3592	IL12A	ORPHA:117
HP:5200046	Sensory behavioral abnormality	101928376	IL12A-AS1	ORPHA:117
HP:5200046	Sensory behavioral abnormality	3106	HLA-B	ORPHA:117
HP:5200046	Sensory behavioral abnormality	3106	HLA-B	ORPHA:29207
HP:5200046	Sensory behavioral abnormality	3106	HLA-B	ORPHA:36426
HP:5200046	Sensory behavioral abnormality	7099	TLR4	ORPHA:117
HP:5200046	Sensory behavioral abnormality	3459	IFNGR1	ORPHA:117
HP:5200046	Sensory behavioral abnormality	720	C4A	ORPHA:117
HP:5200046	Sensory behavioral abnormality	337867	UBAC2	ORPHA:117
HP:5200046	Sensory behavioral abnormality	51752	ERAP1	ORPHA:117
HP:5200046	Sensory behavioral abnormality	8302	KLRC4	ORPHA:117
HP:5200046	Sensory behavioral abnormality	92840	REEP6	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6094	ROM1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7401	CLRN1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	130557	ZNF513	ORPHA:791
HP:5200046	Sensory behavioral abnormality	582	BBS1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	23568	ARL2BP	ORPHA:791
HP:5200046	Sensory behavioral abnormality	54806	AHI1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6101	RP1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	3419	IDH3A	ORPHA:791
HP:5200046	Sensory behavioral abnormality	4751	NEK2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	346007	EYS	ORPHA:791
HP:5200046	Sensory behavioral abnormality	346007	EYS	OMIM:602772
HP:5200046	Sensory behavioral abnormality	8100	IFT88	ORPHA:791
HP:5200046	Sensory behavioral abnormality	23020	SNRNP200	ORPHA:791
HP:5200046	Sensory behavioral abnormality	762	CA4	ORPHA:791
HP:5200046	Sensory behavioral abnormality	138050	HGSNAT	ORPHA:791
HP:5200046	Sensory behavioral abnormality	196	AHR	ORPHA:791
HP:5200046	Sensory behavioral abnormality	3614	IMPDH1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	123016	TTC8	ORPHA:791
HP:5200046	Sensory behavioral abnormality	123016	TTC8	OMIM:613464
HP:5200046	Sensory behavioral abnormality	5148	PDE6G	ORPHA:791
HP:5200046	Sensory behavioral abnormality	26160	IFT172	ORPHA:791
HP:5200046	Sensory behavioral abnormality	26121	PRPF31	ORPHA:791
HP:5200046	Sensory behavioral abnormality	583	BBS2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	4117	MAK	ORPHA:791
HP:5200046	Sensory behavioral abnormality	25794	FSCN2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	375298	CERKL	ORPHA:791
HP:5200046	Sensory behavioral abnormality	3420	IDH3B	ORPHA:791
HP:5200046	Sensory behavioral abnormality	57670	KIAA1549	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7275	TUB	ORPHA:791
HP:5200046	Sensory behavioral abnormality	24148	PRPF6	ORPHA:791
HP:5200046	Sensory behavioral abnormality	23418	CRB1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	10461	MERTK	ORPHA:791
HP:5200046	Sensory behavioral abnormality	57709	SLC7A14	ORPHA:791
HP:5200046	Sensory behavioral abnormality	768206	PRCD	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7399	USH2A	ORPHA:791
HP:5200046	Sensory behavioral abnormality	23370	ARHGEF18	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5949	RBP3	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6100	RP9	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9227	LRAT	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9227	LRAT	ORPHA:364055
HP:5200046	Sensory behavioral abnormality	9227	LRAT	OMIM:613341
HP:5200046	Sensory behavioral abnormality	84140	FAM161A	ORPHA:791
HP:5200046	Sensory behavioral abnormality	55812	SPATA7	ORPHA:791
HP:5200046	Sensory behavioral abnormality	55812	SPATA7	ORPHA:364055
HP:5200046	Sensory behavioral abnormality	55624	POMGNT1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	403	ARL3	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5145	PDE6A	ORPHA:791
HP:5200046	Sensory behavioral abnormality	10210	TOPORS	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9128	PRPF4	ORPHA:791
HP:5200046	Sensory behavioral abnormality	145226	RDH12	ORPHA:791
HP:5200046	Sensory behavioral abnormality	50939	IMPG2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	49855	SCAPER	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9742	IFT140	ORPHA:791
HP:5200046	Sensory behavioral abnormality	2979	GUCA1B	ORPHA:791
HP:5200046	Sensory behavioral abnormality	1259	CNGA1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	1258	CNGB1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	60509	AGBL5	ORPHA:791
HP:5200046	Sensory behavioral abnormality	388939	PCARE	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7439	BEST1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9785	DHX38	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7287	TULP1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	7287	TULP1	OMIM:613843
HP:5200046	Sensory behavioral abnormality	5995	RGR	ORPHA:791
HP:5200046	Sensory behavioral abnormality	9129	PRPF3	ORPHA:791
HP:5200046	Sensory behavioral abnormality	55975	KLHL7	ORPHA:791
HP:5200046	Sensory behavioral abnormality	3617	IMPG1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	94137	RP1L1	ORPHA:791
HP:5200046	Sensory behavioral abnormality	5158	PDE6B	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6102	RP2	ORPHA:791
HP:5200046	Sensory behavioral abnormality	55857	KIZ	ORPHA:791
HP:5200046	Sensory behavioral abnormality	4901	NRL	ORPHA:791
HP:5200046	Sensory behavioral abnormality	10594	PRPF8	ORPHA:791
HP:5200046	Sensory behavioral abnormality	84100	ARL6	ORPHA:791
HP:5200046	Sensory behavioral abnormality	6295	SAG	ORPHA:791
HP:5200046	Sensory behavioral abnormality	79947	DHDDS	ORPHA:791
HP:5200046	Sensory behavioral abnormality	8626	TP63	OMIM:604292
HP:5200046	Sensory behavioral abnormality	8626	TP63	ORPHA:1896
HP:5200046	Sensory behavioral abnormality	55630	SLC39A4	ORPHA:37
HP:5200046	Sensory behavioral abnormality	167691	LCA5	ORPHA:364055
HP:5200046	Sensory behavioral abnormality	114902	C1QTNF5	ORPHA:67042
HP:5200046	Sensory behavioral abnormality	83552	MFRP	OMIM:611040
HP:5200046	Sensory behavioral abnormality	22861	NLRP1	OMIM:617388
HP:5200046	Sensory behavioral abnormality	2784	GNB3	OMIM:617024
HP:5200046	Sensory behavioral abnormality	84816	RTN4IP1	OMIM:616732
HP:5200046	Sensory behavioral abnormality	11190	CEP250	OMIM:618358
HP:5200046	Sensory behavioral abnormality	611	OPN1SW	ORPHA:88629
HP:5200046	Sensory behavioral abnormality	10320	IKZF1	ORPHA:36426
HP:5200046	Sensory behavioral abnormality	6768	ST14	OMIM:602400
HP:5200046	Sensory behavioral abnormality	6898	TAT	ORPHA:28378
HP:5200046	Sensory behavioral abnormality	9445	ITM2B	OMIM:616079
HP:5200046	Sensory behavioral abnormality	6785	ELOVL4	OMIM:614457
HP:5200046	Sensory behavioral abnormality	2202	EFEMP1	ORPHA:75376
HP:5200046	Sensory behavioral abnormality	3075	CFH	ORPHA:75376
HP:5200046	Sensory behavioral abnormality	3426	CFI	ORPHA:75376
HP:5200046	Sensory behavioral abnormality	388531	RGS9BP	ORPHA:75374
HP:5200046	Sensory behavioral abnormality	8787	RGS9	ORPHA:75374
HP:5200046	Sensory behavioral abnormality	100996717	NOTCH2NLC	OMIM:619473
HP:5200046	Sensory behavioral abnormality	4070	TACSTD2	OMIM:204870
HP:5200046	Sensory behavioral abnormality	114548	NLRP3	OMIM:148200
HP:5200046	Sensory behavioral abnormality	3257	HPS1	OMIM:203300
HP:5200046	Sensory behavioral abnormality	1308	COL17A1	ORPHA:293381
HP:5200046	Sensory behavioral abnormality	1308	COL17A1	OMIM:122400
HP:5200046	Sensory behavioral abnormality	57010	CABP4	OMIM:610427
HP:5200046	Sensory behavioral abnormality	3123	HLA-DRB1	OMIM:181000
HP:5200046	Sensory behavioral abnormality	5422	POLA1	OMIM:301220
HP:5200046	Sensory behavioral abnormality	22943	DKK1	ORPHA:268882
HP:5200046	Sensory behavioral abnormality	2990	GUSB	OMIM:253220
HP:5200046	Sensory behavioral abnormality	10383	TUBB4B	OMIM:617879
HP:5200046	Sensory behavioral abnormality	2581	GALC	ORPHA:206436
HP:5200046	Sensory behavioral abnormality	5660	PSAP	ORPHA:206436
HP:5200046	Sensory behavioral abnormality	8139	GAN	OMIM:256850
HP:5200046	Sensory behavioral abnormality	3030	HADHA	ORPHA:5
HP:5200046	Sensory behavioral abnormality	23155	CLCC1	OMIM:609913
HP:5200046	Sensory behavioral abnormality	9699	RIMS2	OMIM:618970
HP:5200046	Sensory behavioral abnormality	10939	AFG3L2	OMIM:618977
HP:5200046	Sensory behavioral abnormality	3852	KRT5	ORPHA:79396
HP:5200046	Sensory behavioral abnormality	3861	KRT14	ORPHA:79396
HP:5200046	Sensory behavioral abnormality	5663	PSEN1	OMIM:600274
HP:5200046	Sensory behavioral abnormality	5663	PSEN1	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	5663	PSEN1	OMIM:172700
HP:5200046	Sensory behavioral abnormality	25978	CHMP2B	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	25978	CHMP2B	OMIM:600795
HP:5200046	Sensory behavioral abnormality	2896	GRN	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	2896	GRN	OMIM:607485
HP:5200046	Sensory behavioral abnormality	54664	TMEM106B	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	8878	SQSTM1	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	54209	TREM2	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	7415	VCP	ORPHA:275864
HP:5200046	Sensory behavioral abnormality	5621	PRNP	OMIM:606688
HP:5200046	Sensory behavioral abnormality	6638	SNRPN	ORPHA:411515
HP:5200046	Sensory behavioral abnormality	7337	UBE3A	ORPHA:411515
HP:5200046	Sensory behavioral abnormality	57194	ATP10A	ORPHA:411515
HP:5200046	Sensory behavioral abnormality	85358	SHANK3	OMIM:606232
HP:5200046	Sensory behavioral abnormality	54675	CRLS1	OMIM:620167
HP:5200046	Sensory behavioral abnormality	1639	DCTN1	OMIM:168605
HP:5200046	Sensory behavioral abnormality	1909	EDNRA	OMIM:157300
HP:5200046	Sensory behavioral abnormality	2099	ESR1	OMIM:157300
HP:5200046	Sensory behavioral abnormality	7124	TNF	OMIM:157300
HP:5200046	Sensory behavioral abnormality	1387	CREBBP	OMIM:180849
HP:5200046	Sensory behavioral abnormality	2033	EP300	OMIM:180849
HP:5200046	Sensory behavioral abnormality	6804	STX1A	ORPHA:904
HP:5200046	Sensory behavioral abnormality	7461	CLIP2	ORPHA:904
HP:5200046	Sensory behavioral abnormality	84277	DNAJC30	ORPHA:904
HP:5200046	Sensory behavioral abnormality	8468	FKBP6	ORPHA:904
HP:5200046	Sensory behavioral abnormality	5982	RFC2	ORPHA:904
HP:5200046	Sensory behavioral abnormality	2969	GTF2I	ORPHA:904
HP:5200046	Sensory behavioral abnormality	3984	LIMK1	ORPHA:904
HP:5200046	Sensory behavioral abnormality	9569	GTF2IRD1	ORPHA:904
HP:5200046	Sensory behavioral abnormality	155382	VPS37D	ORPHA:904
HP:5200046	Sensory behavioral abnormality	155368	METTL27	ORPHA:904
HP:5200046	Sensory behavioral abnormality	114049	BUD23	ORPHA:904
HP:5200046	Sensory behavioral abnormality	7458	EIF4H	ORPHA:904
HP:5200046	Sensory behavioral abnormality	84163	GTF2IRD2	ORPHA:904
HP:5200046	Sensory behavioral abnormality	9275	BCL7B	ORPHA:904
HP:5200046	Sensory behavioral abnormality	26608	TBL2	ORPHA:904
HP:5200046	Sensory behavioral abnormality	653361	NCF1	ORPHA:904
HP:5200046	Sensory behavioral abnormality	135886	TMEM270	ORPHA:904
HP:5200046	Sensory behavioral abnormality	51085	MLXIPL	ORPHA:904
HP:5200046	Sensory behavioral abnormality	51085	MLXIPL	OMIM:194050
HP:5200046	Sensory behavioral abnormality	9031	BAZ1B	ORPHA:904
HP:5200046	Sensory behavioral abnormality	2006	ELN	ORPHA:904
HP:5200046	Sensory behavioral abnormality	2006	ELN	OMIM:194050
HP:5200046	Sensory behavioral abnormality	6507	SLC1A3	OMIM:612656
HP:5200046	Sensory behavioral abnormality	6507	SLC1A3	ORPHA:209967
HP:5200046	Sensory behavioral abnormality	6323	SCN1A	OMIM:609634
HP:5200046	Sensory behavioral abnormality	7204	TRIO	OMIM:617061
HP:5200046	Sensory behavioral abnormality	3074	HEXB	ORPHA:309155
HP:5200046	Sensory behavioral abnormality	8493	PPM1D	OMIM:617450
HP:5200046	Sensory behavioral abnormality	2760	GM2A	ORPHA:309246
HP:5200046	Sensory behavioral abnormality	2760	GM2A	OMIM:272750
HP:5200046	Sensory behavioral abnormality	2314	FLII	ORPHA:819
HP:5200046	Sensory behavioral abnormality	23096	IQSEC2	ORPHA:819
HP:5200046	Sensory behavioral abnormality	10522	DEAF1	ORPHA:819
HP:5200046	Sensory behavioral abnormality	56947	MFF	ORPHA:485421
HP:5200046	Sensory behavioral abnormality	26053	AUTS2	OMIM:615834
HP:5200046	Sensory behavioral abnormality	26053	AUTS2	ORPHA:352490
HP:5200046	Sensory behavioral abnormality	10743	RAI1	OMIM:182290
HP:5200046	Sensory behavioral abnormality	5575	PRKAR1B	OMIM:619680
HP:0003121	Limb joint contracture	64093	SMOC1	OMIM:206920
HP:0003121	Limb joint contracture	64093	SMOC1	ORPHA:1106
HP:0003121	Limb joint contracture	3868	KRT16	ORPHA:2199
HP:0003121	Limb joint contracture	3857	KRT9	ORPHA:2199
HP:0003121	Limb joint contracture	3848	KRT1	ORPHA:2199
HP:0003121	Limb joint contracture	4204	MECP2	OMIM:300055
HP:0003121	Limb joint contracture	57863	CADM3	OMIM:619519
HP:0003121	Limb joint contracture	6445	SGCG	ORPHA:353
HP:0003121	Limb joint contracture	23299	BICD2	OMIM:615290
HP:0003121	Limb joint contracture	55906	ZC4H2	OMIM:301041
HP:0003121	Limb joint contracture	2273	FHL1	OMIM:300696
HP:0003121	Limb joint contracture	2273	FHL1	OMIM:300695
HP:0003121	Limb joint contracture	2273	FHL1	ORPHA:98863
HP:0003121	Limb joint contracture	7273	TTN	OMIM:603689
HP:0003121	Limb joint contracture	79147	FKRP	OMIM:606612
HP:0003121	Limb joint contracture	79147	FKRP	ORPHA:370980
HP:0003121	Limb joint contracture	79147	FKRP	OMIM:607155
HP:0003121	Limb joint contracture	51651	PTRH2	OMIM:616263
HP:0003121	Limb joint contracture	51651	PTRH2	ORPHA:456312
HP:0003121	Limb joint contracture	54888	NSUN2	OMIM:611091
HP:0003121	Limb joint contracture	3094	HINT1	ORPHA:324442
HP:0003121	Limb joint contracture	339855	KY	OMIM:617114
HP:0003121	Limb joint contracture	23516	SLC39A14	OMIM:617013
HP:0003121	Limb joint contracture	4010	LMX1B	ORPHA:2614
HP:0003121	Limb joint contracture	79912	PYROXD1	OMIM:617258
HP:0003121	Limb joint contracture	1756	DMD	OMIM:310200
HP:0003121	Limb joint contracture	291	SLC25A4	OMIM:615418
HP:0003121	Limb joint contracture	2010	EMD	OMIM:310300
HP:0003121	Limb joint contracture	2010	EMD	ORPHA:98863
HP:0003121	Limb joint contracture	57679	ALS2	OMIM:607225
HP:0003121	Limb joint contracture	6442	SGCA	ORPHA:62
HP:0003121	Limb joint contracture	4556	MT-TE	ORPHA:2596
HP:0003121	Limb joint contracture	9990	SLC12A6	OMIM:620068
HP:0003121	Limb joint contracture	1292	COL6A2	OMIM:255600
HP:0003121	Limb joint contracture	1292	COL6A2	ORPHA:610
HP:0003121	Limb joint contracture	9499	MYOT	OMIM:609200
HP:0003121	Limb joint contracture	10060	ABCC9	OMIM:619719
HP:0003121	Limb joint contracture	4000	LMNA	OMIM:181350
HP:0003121	Limb joint contracture	4000	LMNA	OMIM:613205
HP:0003121	Limb joint contracture	4000	LMNA	ORPHA:98855
HP:0003121	Limb joint contracture	4000	LMNA	ORPHA:98853
HP:0003121	Limb joint contracture	5339	PLEC	ORPHA:254361
HP:0003121	Limb joint contracture	3714	JAG2	OMIM:619566
HP:0003121	Limb joint contracture	113179	ADAT3	ORPHA:363528
HP:0003121	Limb joint contracture	51506	UFC1	OMIM:618076
HP:0003121	Limb joint contracture	2705	GJB1	OMIM:302800
HP:0003121	Limb joint contracture	58	ACTA1	OMIM:616852
HP:0003121	Limb joint contracture	26090	ABHD12	OMIM:612674
HP:0003121	Limb joint contracture	2218	FKTN	ORPHA:370980
HP:0003121	Limb joint contracture	729920	CRPPA	ORPHA:370980
HP:0003121	Limb joint contracture	10585	POMT1	ORPHA:370980
HP:0003121	Limb joint contracture	3265	HRAS	OMIM:218040
HP:0003121	Limb joint contracture	55768	NGLY1	ORPHA:404454
HP:0003121	Limb joint contracture	2799	GNS	OMIM:252940
HP:0003121	Limb joint contracture	4976	OPA1	OMIM:210000
HP:0003121	Limb joint contracture	9215	LARGE1	OMIM:608840
HP:0003121	Limb joint contracture	1303	COL12A1	ORPHA:610
HP:0003121	Limb joint contracture	1291	COL6A1	ORPHA:610
HP:0003121	Limb joint contracture	1293	COL6A3	ORPHA:610
HP:0003121	Limb joint contracture	79188	TMEM43	ORPHA:98853
HP:0003121	Limb joint contracture	23345	SYNE1	ORPHA:98853
HP:0003121	Limb joint contracture	23224	SYNE2	ORPHA:98853
HP:0003121	Limb joint contracture	1832	DSP	ORPHA:158687
HP:0003121	Limb joint contracture	3728	JUP	ORPHA:158687
HP:0003121	Limb joint contracture	84295	PHF6	ORPHA:127
HP:0003121	Limb joint contracture	2137	EXTL3	ORPHA:508533
HP:0003121	Limb joint contracture	83932	SPRTN	OMIM:616200
HP:0003121	Limb joint contracture	5447	POR	ORPHA:95699
HP:0003121	Limb joint contracture	5831	PYCR1	OMIM:614438
HP:0003121	Limb joint contracture	5351	PLOD1	ORPHA:1900
HP:0003121	Limb joint contracture	7020	TFAP2A	OMIM:113620
HP:0003121	Limb joint contracture	545	ATR	OMIM:210600
HP:0003121	Limb joint contracture	3908	LAMA2	OMIM:618138
HP:0003121	Limb joint contracture	84065	TMEM222	OMIM:619470
HP:0003121	Limb joint contracture	3835	KIF22	ORPHA:93360
HP:0003121	Limb joint contracture	6628	SNRPB	OMIM:117650
HP:0003121	Limb joint contracture	340419	RSPO2	OMIM:618022
HP:0003121	Limb joint contracture	1861	TOR1A	OMIM:618947
HP:0003121	Limb joint contracture	23233	EXOC6B	ORPHA:93359
HP:0003121	Limb joint contracture	126792	B3GALT6	ORPHA:93359
HP:0003121	Limb joint contracture	5286	PIK3C2A	OMIM:618440
HP:0003121	Limb joint contracture	25836	NIPBL	OMIM:122470
HP:0003121	Limb joint contracture	7476	WNT7A	OMIM:276820
HP:0003121	Limb joint contracture	5832	ALDH18A1	ORPHA:447757
HP:0003121	Limb joint contracture	6913	TBX15	ORPHA:93333
HP:0003121	Limb joint contracture	26229	B3GAT3	OMIM:245600
HP:0003121	Limb joint contracture	9427	ECEL1	OMIM:615065
HP:0003121	Limb joint contracture	825	CAPN3	ORPHA:267
HP:0003121	Limb joint contracture	215	ABCD1	ORPHA:139396
HP:0003121	Limb joint contracture	29968	PSAT1	ORPHA:284417
HP:0003121	Limb joint contracture	51102	MECR	OMIM:617282
HP:0003121	Limb joint contracture	3074	HEXB	ORPHA:309162
HP:0003121	Limb joint contracture	51633	OTUD6B	ORPHA:505237
HP:0003121	Limb joint contracture	170302	ARX	OMIM:300004
HP:0003121	Limb joint contracture	8506	CNTNAP1	OMIM:618186
HP:0003121	Limb joint contracture	2902	GRIN1	OMIM:619814
HP:0003121	Limb joint contracture	55131	RBM28	OMIM:612079
HP:0003121	Limb joint contracture	51091	SEPSECS	OMIM:613811
HP:0003121	Limb joint contracture	819	CAMLG	OMIM:620201
HP:0003121	Limb joint contracture	1308	COL17A1	ORPHA:251393
HP:0003121	Limb joint contracture	3691	ITGB4	ORPHA:251393
HP:0003121	Limb joint contracture	9653	HS2ST1	OMIM:619194
HP:0003121	Limb joint contracture	274	BIN1	ORPHA:169186
HP:0003121	Limb joint contracture	10290	SPEG	ORPHA:169186
HP:0003121	Limb joint contracture	10290	SPEG	OMIM:615959
HP:0003121	Limb joint contracture	6261	RYR1	ORPHA:169186
HP:0003121	Limb joint contracture	57190	SELENON	ORPHA:97244
HP:0003121	Limb joint contracture	57190	SELENON	ORPHA:2020
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	ORPHA:353298
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	OMIM:616651
HP:0003121	Limb joint contracture	9894	TELO2	ORPHA:488642
HP:0003121	Limb joint contracture	285175	UNC80	OMIM:616801
HP:0003121	Limb joint contracture	285175	UNC80	ORPHA:371364
HP:0003121	Limb joint contracture	84992	PIGY	OMIM:616809
HP:0003121	Limb joint contracture	29072	SETD2	ORPHA:821
HP:0003121	Limb joint contracture	10297	APC2	ORPHA:821
HP:0003121	Limb joint contracture	11160	ERLIN2	ORPHA:209951
HP:0003121	Limb joint contracture	2617	GARS1	OMIM:619042
HP:0003121	Limb joint contracture	26137	ZBTB20	OMIM:259050
HP:0003121	Limb joint contracture	26137	ZBTB20	ORPHA:3042
HP:0003121	Limb joint contracture	6536	SLC6A9	OMIM:617301
HP:0003121	Limb joint contracture	163175	LGI4	OMIM:617468
HP:0003121	Limb joint contracture	60681	FKBP10	OMIM:259450
HP:0003121	Limb joint contracture	4773	NFATC2	OMIM:620232
HP:0003121	Limb joint contracture	1161	ERCC8	OMIM:216400
HP:0003121	Limb joint contracture	87178	PNPT1	ORPHA:319514
HP:0003121	Limb joint contracture	79158	GNPTAB	ORPHA:576
HP:0003121	Limb joint contracture	5745	PTH1R	OMIM:156400
HP:0003121	Limb joint contracture	84068	SLC10A7	OMIM:618363
HP:0003121	Limb joint contracture	2157	F8	ORPHA:169805
HP:0003121	Limb joint contracture	7317	UBA1	ORPHA:1145
HP:0003121	Limb joint contracture	55681	SCYL2	ORPHA:1143
HP:0003121	Limb joint contracture	84570	COL25A1	ORPHA:1143
HP:0003121	Limb joint contracture	57222	ERGIC1	ORPHA:1143
HP:0003121	Limb joint contracture	7138	TNNT1	ORPHA:98902
HP:0003121	Limb joint contracture	7138	TNNT1	OMIM:605355
HP:0003121	Limb joint contracture	4313	MMP2	OMIM:259600
HP:0003121	Limb joint contracture	1280	COL2A1	OMIM:156550
HP:0003121	Limb joint contracture	4633	MYL2	ORPHA:2020
HP:0003121	Limb joint contracture	3679	ITGA7	ORPHA:2020
HP:0003121	Limb joint contracture	9200	HACD1	ORPHA:2020
HP:0003121	Limb joint contracture	7170	TPM3	ORPHA:2020
HP:0003121	Limb joint contracture	51776	MAP3K20	ORPHA:2020
HP:0003121	Limb joint contracture	5297	PI4KA	OMIM:619621
HP:0003121	Limb joint contracture	54681	P4HTM	OMIM:618493
HP:0003121	Limb joint contracture	5277	PIGA	OMIM:300868
HP:0003121	Limb joint contracture	6023	RMRP	OMIM:607095
HP:0003121	Limb joint contracture	2783	GNB2	OMIM:619503
HP:0003121	Limb joint contracture	4632	MYL1	OMIM:618414
HP:0003121	Limb joint contracture	55628	ZNF407	OMIM:619557
HP:0003121	Limb joint contracture	23219	FBXO28	OMIM:619777
HP:0003121	Limb joint contracture	84265	POLR3GL	OMIM:619234
HP:0003121	Limb joint contracture	3798	KIF5A	ORPHA:100991
HP:0003121	Limb joint contracture	84340	GFM2	ORPHA:565624
HP:0003121	Limb joint contracture	60386	SLC25A19	OMIM:613710
HP:0003121	Limb joint contracture	2521	FUS	ORPHA:300605
HP:0003121	Limb joint contracture	10558	SPTLC1	ORPHA:300605
HP:0003121	Limb joint contracture	80232	WDR26	ORPHA:513456
HP:0003121	Limb joint contracture	3767	KCNJ11	ORPHA:99885
HP:0003121	Limb joint contracture	6774	STAT3	ORPHA:99885
HP:0003121	Limb joint contracture	2645	GCK	ORPHA:99885
HP:0003121	Limb joint contracture	3651	PDX1	ORPHA:99885
HP:0003121	Limb joint contracture	6833	ABCC8	ORPHA:99885
HP:0003121	Limb joint contracture	3630	INS	ORPHA:99885
HP:0003121	Limb joint contracture	139285	AMER1	OMIM:300373
HP:0003121	Limb joint contracture	23556	PIGN	ORPHA:280633
HP:0003121	Limb joint contracture	7043	TGFB3	OMIM:615582
HP:0003121	Limb joint contracture	1984	EIF5A	OMIM:619376
HP:0003121	Limb joint contracture	23141	ANKLE2	OMIM:616681
HP:0003121	Limb joint contracture	5352	PLOD2	OMIM:609220
HP:0003121	Limb joint contracture	91179	SCARF2	OMIM:600920
HP:0003121	Limb joint contracture	4649	MYO9A	OMIM:618198
HP:0003121	Limb joint contracture	6616	SNAP25	OMIM:616330
HP:0003121	Limb joint contracture	29925	GMPPB	ORPHA:353327
HP:0003121	Limb joint contracture	2673	GFPT1	ORPHA:353327
HP:0003121	Limb joint contracture	1798	DPAGT1	ORPHA:353327
HP:0003121	Limb joint contracture	85365	ALG2	ORPHA:353327
HP:0003121	Limb joint contracture	85365	ALG2	OMIM:616228
HP:0003121	Limb joint contracture	199857	ALG14	ORPHA:353327
HP:0003121	Limb joint contracture	23321	TRIM2	OMIM:615490
HP:0003121	Limb joint contracture	92255	LMBRD2	OMIM:619694
HP:0003121	Limb joint contracture	127833	SYT2	OMIM:619461
HP:0003121	Limb joint contracture	1954	MEGF8	OMIM:614976
HP:0003121	Limb joint contracture	3930	LBR	OMIM:618019
HP:0003121	Limb joint contracture	79644	SRD5A3	OMIM:612713
HP:0003121	Limb joint contracture	9531	BAG3	OMIM:612954
HP:0003121	Limb joint contracture	9051	PSTPIP1	OMIM:604416
HP:0003121	Limb joint contracture	10804	GJB6	ORPHA:477
HP:0003121	Limb joint contracture	2706	GJB2	ORPHA:477
HP:0003121	Limb joint contracture	2706	GJB2	OMIM:148210
HP:0003121	Limb joint contracture	9791	PTDSS1	OMIM:151050
HP:0003121	Limb joint contracture	157570	ESCO2	ORPHA:3103
HP:0003121	Limb joint contracture	157570	ESCO2	OMIM:268300
HP:0003121	Limb joint contracture	10613	ERLIN1	ORPHA:401785
HP:0003121	Limb joint contracture	22978	NT5C2	ORPHA:320396
HP:0003121	Limb joint contracture	2222	FDFT1	OMIM:618156
HP:0003121	Limb joint contracture	83636	C19orf12	OMIM:615043
HP:0003121	Limb joint contracture	1376	CPT2	OMIM:608836
HP:0003121	Limb joint contracture	5296	PIK3R2	OMIM:603387
HP:0003121	Limb joint contracture	23387	SIK3	OMIM:618162
HP:0003121	Limb joint contracture	8813	DPM1	OMIM:608799
HP:0003121	Limb joint contracture	8813	DPM1	ORPHA:79322
HP:0003121	Limb joint contracture	6389	SDHA	ORPHA:3208
HP:0003121	Limb joint contracture	6390	SDHB	ORPHA:3208
HP:0003121	Limb joint contracture	6392	SDHD	ORPHA:3208
HP:0003121	Limb joint contracture	644096	SDHAF1	ORPHA:3208
HP:0003121	Limb joint contracture	1073	CFL2	OMIM:610687
HP:0003121	Limb joint contracture	64116	SLC39A8	ORPHA:468699
HP:0003121	Limb joint contracture	91137	SLC25A46	OMIM:619303
HP:0003121	Limb joint contracture	1140	CHRNB1	OMIM:616313
HP:0003121	Limb joint contracture	529	ATP6V1E1	OMIM:617402
HP:0003121	Limb joint contracture	8449	DHX16	OMIM:618733
HP:0003121	Limb joint contracture	2737	GLI3	ORPHA:93322
HP:0003121	Limb joint contracture	1605	DAG1	OMIM:613818
HP:0003121	Limb joint contracture	1605	DAG1	ORPHA:280333
HP:0003121	Limb joint contracture	55958	KLHL9	ORPHA:399081
HP:0003121	Limb joint contracture	84876	ORAI1	OMIM:615883
HP:0003121	Limb joint contracture	6509	SLC1A4	OMIM:616657
HP:0003121	Limb joint contracture	210	ALAD	ORPHA:100924
HP:0003121	Limb joint contracture	513	ATP5F1D	OMIM:618120
HP:0003121	Limb joint contracture	80208	SPG11	OMIM:616668
HP:0003121	Limb joint contracture	57731	SPTBN4	OMIM:617519
HP:0003121	Limb joint contracture	497661	C18orf32	OMIM:619985
HP:0003121	Limb joint contracture	4703	NEB	ORPHA:399103
HP:0003121	Limb joint contracture	7407	VARS1	OMIM:617802
HP:0003121	Limb joint contracture	9896	FIG4	OMIM:611228
HP:0003121	Limb joint contracture	65055	REEP1	OMIM:620011
HP:0003121	Limb joint contracture	51305	KCNK9	ORPHA:166108
HP:0003121	Limb joint contracture	4312	MMP1	ORPHA:79408
HP:0003121	Limb joint contracture	1294	COL7A1	ORPHA:79408
HP:0003121	Limb joint contracture	2972	BRF1	ORPHA:444072
HP:0003121	Limb joint contracture	23259	DDHD2	ORPHA:320380
HP:0003121	Limb joint contracture	54828	BCAS3	OMIM:619641
HP:0003121	Limb joint contracture	1235	CCR6	ORPHA:220402
HP:0003121	Limb joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0003121	Limb joint contracture	1490	CCN2	ORPHA:220402
HP:0003121	Limb joint contracture	3663	IRF5	ORPHA:220402
HP:0003121	Limb joint contracture	857	CAV1	ORPHA:220402
HP:0003121	Limb joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0003121	Limb joint contracture	2072	ERCC4	ORPHA:90321
HP:0003121	Limb joint contracture	5307	PITX1	OMIM:186550
HP:0003121	Limb joint contracture	10664	CTCF	ORPHA:363611
HP:0003121	Limb joint contracture	26053	AUTS2	ORPHA:352490
HP:0003121	Limb joint contracture	219854	TMEM218	OMIM:619562
HP:0003121	Limb joint contracture	23291	FBXW11	OMIM:618914
HP:0003121	Limb joint contracture	9757	KMT2B	OMIM:619934
HP:0003121	Limb joint contracture	3720	JARID2	OMIM:620098
HP:0003121	Limb joint contracture	10765	KDM5B	OMIM:618109
HP:0003121	Limb joint contracture	9487	PIGL	OMIM:280000
HP:0003121	Limb joint contracture	10093	ARPC4	OMIM:620141
HP:0003121	Limb joint contracture	25942	SIN3A	OMIM:613406
HP:0003121	Limb joint contracture	11011	TLK2	OMIM:618050
HP:0003121	Limb joint contracture	80816	ASXL3	OMIM:615485
HP:0003121	Limb joint contracture	81857	MED25	ORPHA:464738
HP:0003121	Limb joint contracture	8243	SMC1A	OMIM:301044
HP:0003121	Limb joint contracture	6909	TBX2	OMIM:618223
HP:0003121	Limb joint contracture	1718	DHCR24	OMIM:602398
HP:0003121	Limb joint contracture	1001	CDH3	OMIM:225280
HP:0003121	Limb joint contracture	5830	PEX5	OMIM:214110
HP:0003121	Limb joint contracture	51715	RAB23	OMIM:201000
HP:0003121	Limb joint contracture	8626	TP63	OMIM:603543
HP:0003121	Limb joint contracture	10084	PQBP1	OMIM:309500
HP:0003121	Limb joint contracture	7390	UROS	OMIM:263700
HP:0003121	Limb joint contracture	1272	CNTN1	OMIM:612540
HP:0003121	Limb joint contracture	3572	IL6ST	OMIM:618523
HP:0003121	Limb joint contracture	10195	ALG3	OMIM:601110
HP:0003121	Limb joint contracture	57449	PLEKHG5	OMIM:611067
HP:0003121	Limb joint contracture	54332	GDAP1	ORPHA:99948
HP:0003121	Limb joint contracture	5376	PMP22	ORPHA:90658
HP:0003121	Limb joint contracture	26227	PHGDH	OMIM:256520
HP:0003121	Limb joint contracture	1277	COL1A1	OMIM:130060
HP:0003121	Limb joint contracture	6134	RPL10	OMIM:300998
HP:0003121	Limb joint contracture	23327	NEDD4L	OMIM:617201
HP:0003121	Limb joint contracture	8985	PLOD3	OMIM:612394
HP:0003121	Limb joint contracture	1889	ECE1	OMIM:613870
HP:0003121	Limb joint contracture	6662	SOX9	OMIM:114290
HP:0003121	Limb joint contracture	4297	KMT2A	OMIM:605130
HP:0003121	Limb joint contracture	171023	ASXL1	ORPHA:97297
HP:0003121	Limb joint contracture	6840	SVIL	OMIM:619040
HP:0003121	Limb joint contracture	342035	GLDN	OMIM:617194
HP:0003121	Limb joint contracture	3861	KRT14	ORPHA:69087
HP:0003121	Limb joint contracture	28982	FLVCR1	ORPHA:88628
HP:0003121	Limb joint contracture	28982	FLVCR1	OMIM:609033
HP:0003121	Limb joint contracture	5159	PDGFRB	OMIM:601812
HP:0003121	Limb joint contracture	388015	RTL1	ORPHA:254528
HP:0003121	Limb joint contracture	8788	DLK1	ORPHA:254528
HP:0003121	Limb joint contracture	55384	MEG3	ORPHA:254528
HP:0003121	Limb joint contracture	4921	DDR2	OMIM:618175
HP:0003121	Limb joint contracture	22880	MORC2	ORPHA:466768
HP:0003121	Limb joint contracture	4747	NEFL	ORPHA:101085
HP:0003121	Limb joint contracture	1859	DYRK1A	ORPHA:464311
HP:0003121	Limb joint contracture	203859	ANO5	ORPHA:206549
HP:0003121	Limb joint contracture	64423	INF2	OMIM:614455
HP:0003121	Limb joint contracture	10280	SIGMAR1	OMIM:605726
HP:0003121	Limb joint contracture	10397	NDRG1	OMIM:601455
HP:0003121	Limb joint contracture	3315	HSPB1	OMIM:606595
HP:0003121	Limb joint contracture	8566	PDXK	OMIM:618511
HP:0003121	Limb joint contracture	3098	HK1	OMIM:605285
HP:0003121	Limb joint contracture	3481	IGF2	OMIM:616489
HP:0003121	Limb joint contracture	57038	RARS2	OMIM:611523
HP:0003121	Limb joint contracture	57211	ADGRG6	OMIM:616503
HP:0003121	Limb joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0003121	Limb joint contracture	4621	MYH3	ORPHA:2053
HP:0003121	Limb joint contracture	4621	MYH3	ORPHA:1146
HP:0003121	Limb joint contracture	4621	MYH3	ORPHA:2990
HP:0003121	Limb joint contracture	259232	NALCN	ORPHA:2053
HP:0003121	Limb joint contracture	259232	NALCN	ORPHA:1146
HP:0003121	Limb joint contracture	8294	H4C9	OMIM:619951
HP:0003121	Limb joint contracture	8838	CCN6	OMIM:208230
HP:0003121	Limb joint contracture	1947	EFNB1	ORPHA:1520
HP:0003121	Limb joint contracture	7355	SLC35A2	ORPHA:356961
HP:0003121	Limb joint contracture	118429	ANTXR2	ORPHA:2176
HP:0003121	Limb joint contracture	5077	PAX3	ORPHA:1529
HP:0003121	Limb joint contracture	5077	PAX3	ORPHA:896
HP:0003121	Limb joint contracture	5077	PAX3	OMIM:148820
HP:0003121	Limb joint contracture	2316	FLNA	OMIM:300244
HP:0003121	Limb joint contracture	2316	FLNA	ORPHA:90652
HP:0003121	Limb joint contracture	2316	FLNA	ORPHA:1826
HP:0003121	Limb joint contracture	2316	FLNA	OMIM:305620
HP:0003121	Limb joint contracture	9241	NOG	ORPHA:3250
HP:0003121	Limb joint contracture	8200	GDF5	ORPHA:3250
HP:0003121	Limb joint contracture	54968	TMEM70	ORPHA:1194
HP:0003121	Limb joint contracture	613	BCR	ORPHA:261330
HP:0003121	Limb joint contracture	1399	CRKL	ORPHA:261330
HP:0003121	Limb joint contracture	5594	MAPK1	ORPHA:261330
HP:0003121	Limb joint contracture	84466	MEGF10	OMIM:614399
HP:0003121	Limb joint contracture	72	ACTG2	ORPHA:2604
HP:0003121	Limb joint contracture	10216	PRG4	ORPHA:2848
HP:0003121	Limb joint contracture	3508	IGHMBP2	OMIM:604320
HP:0003121	Limb joint contracture	6926	TBX3	ORPHA:3138
HP:0003121	Limb joint contracture	51360	MBTPS2	ORPHA:2273
HP:0003121	Limb joint contracture	10381	TUBB3	OMIM:600638
HP:0003121	Limb joint contracture	9469	CHST3	OMIM:143095
HP:0003121	Limb joint contracture	3423	IDS	ORPHA:217085
HP:0003121	Limb joint contracture	3423	IDS	ORPHA:217093
HP:0003121	Limb joint contracture	64359	NXN	ORPHA:1507
HP:0003121	Limb joint contracture	4920	ROR2	ORPHA:1507
HP:0003121	Limb joint contracture	2697	GJA1	ORPHA:2710
HP:0003121	Limb joint contracture	2697	GJA1	ORPHA:93404
HP:0003121	Limb joint contracture	64127	NOD2	OMIM:186580
HP:0003121	Limb joint contracture	64127	NOD2	ORPHA:90340
HP:0003121	Limb joint contracture	6999	TDO2	OMIM:600627
HP:0003121	Limb joint contracture	1301	COL11A1	ORPHA:2021
HP:0003121	Limb joint contracture	1302	COL11A2	ORPHA:2021
HP:0003121	Limb joint contracture	10716	TBR1	ORPHA:1617
HP:0003121	Limb joint contracture	3425	IDUA	OMIM:607015
HP:0003121	Limb joint contracture	3425	IDUA	ORPHA:93473
HP:0003121	Limb joint contracture	4593	MUSK	OMIM:208150
HP:0003121	Limb joint contracture	4593	MUSK	ORPHA:994
HP:0003121	Limb joint contracture	63895	PIEZO2	OMIM:114300
HP:0003121	Limb joint contracture	63895	PIEZO2	ORPHA:376
HP:0003121	Limb joint contracture	63895	PIEZO2	ORPHA:2461
HP:0003121	Limb joint contracture	56006	SMG9	OMIM:616920
HP:0003121	Limb joint contracture	1857	DVL3	ORPHA:3107
HP:0003121	Limb joint contracture	7474	WNT5A	ORPHA:3107
HP:0003121	Limb joint contracture	1855	DVL1	ORPHA:3107
HP:0003121	Limb joint contracture	2535	FZD2	ORPHA:3107
HP:0003121	Limb joint contracture	9508	ADAMTS3	ORPHA:2136
HP:0003121	Limb joint contracture	147372	CCBE1	ORPHA:2136
HP:0003121	Limb joint contracture	79633	FAT4	ORPHA:2136
HP:0003121	Limb joint contracture	5189	PEX1	ORPHA:3220
HP:0003121	Limb joint contracture	5190	PEX6	ORPHA:3220
HP:0003121	Limb joint contracture	5590	PRKCZ	ORPHA:1606
HP:0003121	Limb joint contracture	2563	GABRD	ORPHA:1606
HP:0003121	Limb joint contracture	23013	SPEN	ORPHA:1606
HP:0003121	Limb joint contracture	8510	MMP23B	ORPHA:1606
HP:0003121	Limb joint contracture	7798	LUZP1	ORPHA:1606
HP:0003121	Limb joint contracture	6497	SKI	ORPHA:1606
HP:0003121	Limb joint contracture	6497	SKI	ORPHA:2462
HP:0003121	Limb joint contracture	10630	PDPN	ORPHA:1606
HP:0003121	Limb joint contracture	3339	HSPG2	ORPHA:1606
HP:0003121	Limb joint contracture	10277	UBE4B	ORPHA:1606
HP:0003121	Limb joint contracture	8514	KCNAB2	ORPHA:1606
HP:0003121	Limb joint contracture	473	RERE	ORPHA:1606
HP:0003121	Limb joint contracture	63976	PRDM16	ORPHA:1606
HP:0003121	Limb joint contracture	54897	CASZ1	ORPHA:1606
HP:0003121	Limb joint contracture	9719	ADAMTSL2	OMIM:231050
HP:0003121	Limb joint contracture	4952	OCRL	OMIM:309000
HP:0003121	Limb joint contracture	8517	IKBKG	ORPHA:464
HP:0003121	Limb joint contracture	10436	EMG1	ORPHA:1270
HP:0003121	Limb joint contracture	57492	ARID1B	ORPHA:251056
HP:0003121	Limb joint contracture	11128	POLR3A	ORPHA:3455
HP:0003121	Limb joint contracture	2239	GPC4	ORPHA:373
HP:0003121	Limb joint contracture	2719	GPC3	ORPHA:373
HP:0003121	Limb joint contracture	55612	FERMT1	ORPHA:2908
HP:0003121	Limb joint contracture	3977	LIFR	ORPHA:3206
HP:0003121	Limb joint contracture	23483	TGDS	ORPHA:1388
HP:0003121	Limb joint contracture	2260	FGFR1	OMIM:166250
HP:0003121	Limb joint contracture	7140	TNNT3	ORPHA:1146
HP:0003121	Limb joint contracture	7169	TPM2	ORPHA:1146
HP:0003121	Limb joint contracture	7136	TNNI2	ORPHA:1146
HP:0003121	Limb joint contracture	7136	TNNI2	OMIM:601680
HP:0003121	Limb joint contracture	4604	MYBPC1	ORPHA:1146
HP:0003121	Limb joint contracture	6885	MAP3K7	ORPHA:1826
HP:0003121	Limb joint contracture	117581	TWIST2	ORPHA:920
HP:0003121	Limb joint contracture	64324	NSD1	ORPHA:3447
HP:0003121	Limb joint contracture	8726	EED	ORPHA:3447
HP:0003121	Limb joint contracture	23512	SUZ12	ORPHA:3447
HP:0003121	Limb joint contracture	2146	EZH2	ORPHA:3447
HP:0003121	Limb joint contracture	1723	DHODH	ORPHA:246
HP:0003121	Limb joint contracture	257	ALX3	ORPHA:391474
HP:0003121	Limb joint contracture	3239	HOXD13	OMIM:186300
HP:0003121	Limb joint contracture	3239	HOXD13	ORPHA:93406
HP:0003121	Limb joint contracture	54903	MKS1	OMIM:249000
HP:0003121	Limb joint contracture	91252	SLC39A13	OMIM:612350
HP:0003121	Limb joint contracture	22930	RAB3GAP1	OMIM:619420
HP:0003121	Limb joint contracture	7046	TGFBR1	ORPHA:60030
HP:0003121	Limb joint contracture	10526	IPO8	ORPHA:60030
HP:0003121	Limb joint contracture	7048	TGFBR2	ORPHA:60030
HP:0003121	Limb joint contracture	3897	L1CAM	ORPHA:2466
HP:0003121	Limb joint contracture	2245	FGD1	ORPHA:915
HP:0003121	Limb joint contracture	2200	FBN1	ORPHA:2462
HP:0003121	Limb joint contracture	2201	FBN2	ORPHA:115
HP:0003121	Limb joint contracture	7227	TRPS1	ORPHA:77258
HP:0003121	Limb joint contracture	4088	SMAD3	ORPHA:284984
HP:0003121	Limb joint contracture	27238	GPKOW	ORPHA:2570
HP:0003121	Limb joint contracture	10466	COG5	ORPHA:263487
HP:0003121	Limb joint contracture	55315	SLC29A3	OMIM:602782
HP:0003121	Limb joint contracture	23102	TBC1D2B	OMIM:619323
HP:0003121	Limb joint contracture	2068	ERCC2	OMIM:610756
HP:0003121	Limb joint contracture	2068	ERCC2	ORPHA:1466
HP:0003121	Limb joint contracture	51114	ZDHHC9	ORPHA:776
HP:0003121	Limb joint contracture	65109	UPF3B	ORPHA:776
HP:0003121	Limb joint contracture	9968	MED12	ORPHA:776
HP:0003121	Limb joint contracture	2067	ERCC1	OMIM:610758
HP:0003121	Limb joint contracture	2067	ERCC1	ORPHA:1466
HP:0003121	Limb joint contracture	114548	NLRP3	ORPHA:575
HP:0003121	Limb joint contracture	2074	ERCC6	ORPHA:1466
HP:0003121	Limb joint contracture	2073	ERCC5	ORPHA:1466
HP:0003121	Limb joint contracture	134701	RIPPLY2	ORPHA:2311
HP:0003121	Limb joint contracture	10683	DLL3	ORPHA:2311
HP:0003121	Limb joint contracture	3955	LFNG	ORPHA:2311
HP:0003121	Limb joint contracture	84667	HES7	ORPHA:2311
HP:0003121	Limb joint contracture	145873	MESP2	ORPHA:2311
HP:0003121	Limb joint contracture	81620	CDT1	ORPHA:2554
HP:0003121	Limb joint contracture	5000	ORC4	ORPHA:2554
HP:0003121	Limb joint contracture	23594	ORC6	ORPHA:2554
HP:0003121	Limb joint contracture	8318	CDC45	ORPHA:2554
HP:0003121	Limb joint contracture	990	CDC6	ORPHA:2554
HP:0003121	Limb joint contracture	4998	ORC1	ORPHA:2554
HP:0003121	Limb joint contracture	51053	GMNN	ORPHA:2554
HP:0003121	Limb joint contracture	8260	NAA10	ORPHA:568
HP:0003121	Limb joint contracture	54880	BCOR	ORPHA:568
HP:0003121	Limb joint contracture	64327	LMBR1	ORPHA:93405
HP:0003121	Limb joint contracture	6469	SHH	ORPHA:93405
HP:0003121	Limb joint contracture	4927	NUP88	ORPHA:994
HP:0003121	Limb joint contracture	7846	TUBA1A	ORPHA:994
HP:0003121	Limb joint contracture	4654	MYOD1	ORPHA:994
HP:0003121	Limb joint contracture	5913	RAPSN	ORPHA:994
HP:0003121	Limb joint contracture	6572	SLC18A3	ORPHA:994
HP:0003121	Limb joint contracture	285489	DOK7	ORPHA:994
HP:0003121	Limb joint contracture	3914	LAMB3	OMIM:226650
HP:0003121	Limb joint contracture	9150	CTDP1	ORPHA:48431
HP:0003121	Limb joint contracture	8092	ALX1	ORPHA:306542
HP:0003121	Limb joint contracture	29895	MYL11	OMIM:619110
HP:0003121	Limb joint contracture	64840	PORCN	ORPHA:2092
HP:0003121	Limb joint contracture	23443	SLC35A3	OMIM:615553
HP:0003121	Limb joint contracture	285590	SH3PXD2B	ORPHA:137834
HP:0003121	Limb joint contracture	1836	SLC26A2	ORPHA:628
HP:0003121	Limb joint contracture	25914	RTTN	ORPHA:468631
HP:0003121	Limb joint contracture	9935	MAFB	ORPHA:2774
HP:0003121	Limb joint contracture	28952	CCDC22	OMIM:300963
HP:0003121	Limb joint contracture	8450	CUL4B	ORPHA:85293
HP:0003121	Limb joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0003121	Limb joint contracture	8242	KDM5C	ORPHA:85279
HP:0003121	Limb joint contracture	59341	TRPV4	ORPHA:2635
HP:0003121	Limb joint contracture	2261	FGFR3	ORPHA:85164
HP:0003121	Limb joint contracture	10269	ZMPSTE24	ORPHA:1662
HP:0003121	Limb joint contracture	1146	CHRNG	ORPHA:2990
HP:0003121	Limb joint contracture	23522	KAT6B	ORPHA:3047
HP:0003121	Limb joint contracture	26123	TCTN3	ORPHA:2753
HP:0003121	Limb joint contracture	64131	XYLT1	ORPHA:1425
HP:0003121	Limb joint contracture	124583	CANT1	ORPHA:1425
HP:0003121	Limb joint contracture	55790	CSGALNACT1	ORPHA:1425
HP:0003121	Limb joint contracture	23529	CLCF1	ORPHA:1545
HP:0003121	Limb joint contracture	9244	CRLF1	ORPHA:1545
HP:0003121	Limb joint contracture	51002	TPRKB	ORPHA:2065
HP:0003121	Limb joint contracture	84942	WDR73	ORPHA:2065
HP:0003121	Limb joint contracture	55644	OSGEP	ORPHA:2065
HP:0003121	Limb joint contracture	57122	NUP107	ORPHA:2065
HP:0003121	Limb joint contracture	10785	WDR4	ORPHA:2065
HP:0003121	Limb joint contracture	55746	NUP133	ORPHA:2065
HP:0003121	Limb joint contracture	112858	TP53RK	ORPHA:2065
HP:0003121	Limb joint contracture	8270	LAGE3	ORPHA:2065
HP:0003121	Limb joint contracture	5696	PSMB8	OMIM:256040
HP:0003121	Limb joint contracture	56916	SMARCAD1	ORPHA:1658
HP:0005632	Absent forearm	64327	LMBR1	OMIM:200500
HP:0005639	Hyperextensible hand joints	89970	RSPRY1	ORPHA:457395
HP:0005639	Hyperextensible hand joints	23111	SPART	OMIM:275900
HP:0005639	Hyperextensible hand joints	6651	SON	ORPHA:500150
HP:0005639	Hyperextensible hand joints	8239	USP9X	ORPHA:480880
HP:0005640	Abnormal vertebral segmentation and fusion	57167	SALL4	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	9935	MAFB	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	1123	CHN1	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	9573	GDF3	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	392255	GDF6	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	392255	GDF6	OMIM:118100
HP:0005640	Abnormal vertebral segmentation and fusion	4222	MEOX1	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	168667	BMPER	ORPHA:66637
HP:0005640	Abnormal vertebral segmentation and fusion	2245	FGD1	ORPHA:915
HP:0005640	Abnormal vertebral segmentation and fusion	2316	FLNA	ORPHA:90650
HP:0005640	Abnormal vertebral segmentation and fusion	2316	FLNA	ORPHA:90652
HP:0005640	Abnormal vertebral segmentation and fusion	81839	VANGL1	ORPHA:3027
HP:0005640	Abnormal vertebral segmentation and fusion	80199	FUZ	ORPHA:3027
HP:0004558	Cervical platyspondyly	2517	FUCA1	OMIM:230000
HP:0004558	Cervical platyspondyly	57647	DHX37	OMIM:618731
HP:0004558	Cervical platyspondyly	59341	TRPV4	ORPHA:93314
HP:0010714	2-4 toe syndactyly	5290	PIK3CA	ORPHA:276280
HP:0010714	2-4 toe syndactyly	150468	CKAP2L	OMIM:272440
HP:0010714	2-4 toe syndactyly	112752	IFT43	OMIM:614099
HP:0005643	Short 3rd toe	374969	SVBP	OMIM:618569
HP:0005643	Short 3rd toe	1327	COX4I1	OMIM:619060
HP:0005643	Short 3rd toe	8936	WASF1	OMIM:618707
HP:0005645	Intervertebral disk calcification	3081	HGD	ORPHA:56
HP:0005645	Intervertebral disk calcification	4907	NT5E	OMIM:211800
HP:0005645	Intervertebral disk calcification	1297	COL9A1	OMIM:614135
HP:0001181	Adducted thumb	1802	DPH2	OMIM:620062
HP:0001181	Adducted thumb	91949	COG7	OMIM:608779
HP:0001181	Adducted thumb	91949	COG7	ORPHA:79333
HP:0001181	Adducted thumb	27238	GPKOW	ORPHA:2570
HP:0001181	Adducted thumb	23141	ANKLE2	OMIM:616681
HP:0001181	Adducted thumb	29895	MYL11	OMIM:619110
HP:0001181	Adducted thumb	5393	EXOSC9	OMIM:618065
HP:0001181	Adducted thumb	1861	TOR1A	OMIM:618947
HP:0001181	Adducted thumb	55627	SMPD4	OMIM:618622
HP:0001181	Adducted thumb	6804	STX1A	ORPHA:904
HP:0001181	Adducted thumb	7461	CLIP2	ORPHA:904
HP:0001181	Adducted thumb	84277	DNAJC30	ORPHA:904
HP:0001181	Adducted thumb	8468	FKBP6	ORPHA:904
HP:0001181	Adducted thumb	5982	RFC2	ORPHA:904
HP:0001181	Adducted thumb	2969	GTF2I	ORPHA:904
HP:0001181	Adducted thumb	3984	LIMK1	ORPHA:904
HP:0001181	Adducted thumb	9569	GTF2IRD1	ORPHA:904
HP:0001181	Adducted thumb	155382	VPS37D	ORPHA:904
HP:0001181	Adducted thumb	155368	METTL27	ORPHA:904
HP:0001181	Adducted thumb	114049	BUD23	ORPHA:904
HP:0001181	Adducted thumb	7458	EIF4H	ORPHA:904
HP:0001181	Adducted thumb	84163	GTF2IRD2	ORPHA:904
HP:0001181	Adducted thumb	9275	BCL7B	ORPHA:904
HP:0001181	Adducted thumb	26608	TBL2	ORPHA:904
HP:0001181	Adducted thumb	653361	NCF1	ORPHA:904
HP:0001181	Adducted thumb	135886	TMEM270	ORPHA:904
HP:0001181	Adducted thumb	51085	MLXIPL	ORPHA:904
HP:0001181	Adducted thumb	9031	BAZ1B	ORPHA:904
HP:0001181	Adducted thumb	2006	ELN	ORPHA:904
HP:0001181	Adducted thumb	2006	ELN	ORPHA:90348
HP:0001181	Adducted thumb	5832	ALDH18A1	OMIM:616603
HP:0001181	Adducted thumb	5832	ALDH18A1	OMIM:219150
HP:0001181	Adducted thumb	5832	ALDH18A1	ORPHA:90348
HP:0001181	Adducted thumb	347734	SLC35B2	OMIM:620269
HP:0001181	Adducted thumb	23345	SYNE1	ORPHA:319332
HP:0001181	Adducted thumb	23345	SYNE1	OMIM:618484
HP:0001181	Adducted thumb	2200	FBN1	ORPHA:284979
HP:0001181	Adducted thumb	84992	PIGY	OMIM:616809
HP:0001181	Adducted thumb	1303	COL12A1	ORPHA:75840
HP:0001181	Adducted thumb	1303	COL12A1	ORPHA:536516
HP:0001181	Adducted thumb	1291	COL6A1	ORPHA:75840
HP:0001181	Adducted thumb	1292	COL6A2	ORPHA:75840
HP:0001181	Adducted thumb	1293	COL6A3	ORPHA:75840
HP:0001181	Adducted thumb	9839	ZEB2	ORPHA:261537
HP:0001181	Adducted thumb	9839	ZEB2	ORPHA:261552
HP:0001181	Adducted thumb	215	ABCD1	ORPHA:388
HP:0001181	Adducted thumb	5979	RET	ORPHA:388
HP:0001181	Adducted thumb	2668	GDNF	ORPHA:388
HP:0001181	Adducted thumb	6608	SMO	ORPHA:388
HP:0001181	Adducted thumb	1889	ECE1	ORPHA:388
HP:0001181	Adducted thumb	6720	SREBF1	ORPHA:388
HP:0001181	Adducted thumb	1908	EDN3	ORPHA:388
HP:0001181	Adducted thumb	223117	SEMA3D	ORPHA:388
HP:0001181	Adducted thumb	538	ATP7A	ORPHA:388
HP:0001181	Adducted thumb	1910	EDNRB	ORPHA:388
HP:0001181	Adducted thumb	10512	SEMA3C	ORPHA:388
HP:0001181	Adducted thumb	2064	ERBB2	ORPHA:388
HP:0001181	Adducted thumb	2065	ERBB3	ORPHA:388
HP:0001181	Adducted thumb	4902	NRTN	ORPHA:388
HP:0001181	Adducted thumb	113189	CHST14	OMIM:601776
HP:0001181	Adducted thumb	10479	SLC9A6	OMIM:300243
HP:0001181	Adducted thumb	10479	SLC9A6	ORPHA:85278
HP:0001181	Adducted thumb	91754	NEK9	OMIM:617022
HP:0001181	Adducted thumb	5649	RELN	ORPHA:89844
HP:0001181	Adducted thumb	10300	KATNB1	ORPHA:89844
HP:0001181	Adducted thumb	54820	NDE1	ORPHA:89844
HP:0001181	Adducted thumb	6472	SHMT2	OMIM:619121
HP:0001181	Adducted thumb	58	ACTA1	ORPHA:171430
HP:0001181	Adducted thumb	4703	NEB	ORPHA:171430
HP:0001181	Adducted thumb	4703	NEB	OMIM:619334
HP:0001181	Adducted thumb	131377	KLHL40	ORPHA:171430
HP:0001181	Adducted thumb	10324	KLHL41	ORPHA:171430
HP:0001181	Adducted thumb	56203	LMOD3	ORPHA:171430
HP:0001181	Adducted thumb	26227	PHGDH	OMIM:601815
HP:0001181	Adducted thumb	26227	PHGDH	ORPHA:79351
HP:0001181	Adducted thumb	84162	BLTP1	OMIM:617822
HP:0001181	Adducted thumb	202018	TAPT1	OMIM:616897
HP:0001181	Adducted thumb	2782	GNB1	OMIM:616973
HP:0001181	Adducted thumb	2201	FBN2	OMIM:121050
HP:0001181	Adducted thumb	7140	TNNT3	OMIM:618435
HP:0001181	Adducted thumb	7140	TNNT3	ORPHA:1147
HP:0001181	Adducted thumb	7140	TNNT3	ORPHA:1146
HP:0001181	Adducted thumb	91869	RFT1	OMIM:612015
HP:0001181	Adducted thumb	2033	EP300	ORPHA:353284
HP:0001181	Adducted thumb	4621	MYH3	OMIM:618436
HP:0001181	Adducted thumb	4621	MYH3	OMIM:193700
HP:0001181	Adducted thumb	4621	MYH3	ORPHA:1147
HP:0001181	Adducted thumb	4621	MYH3	ORPHA:1146
HP:0001181	Adducted thumb	3897	L1CAM	ORPHA:306617
HP:0001181	Adducted thumb	3897	L1CAM	OMIM:303350
HP:0001181	Adducted thumb	3897	L1CAM	OMIM:307000
HP:0001181	Adducted thumb	3897	L1CAM	ORPHA:2182
HP:0001181	Adducted thumb	388015	RTL1	ORPHA:96334
HP:0001181	Adducted thumb	8788	DLK1	ORPHA:96334
HP:0001181	Adducted thumb	55384	MEG3	ORPHA:96334
HP:0001181	Adducted thumb	2067	ERCC1	OMIM:610758
HP:0001181	Adducted thumb	9179	AP4M1	OMIM:612936
HP:0001181	Adducted thumb	7169	TPM2	OMIM:108120
HP:0001181	Adducted thumb	7169	TPM2	ORPHA:1147
HP:0001181	Adducted thumb	7169	TPM2	ORPHA:1146
HP:0001181	Adducted thumb	126792	B3GALT6	ORPHA:536467
HP:0001181	Adducted thumb	50515	CHST11	OMIM:618167
HP:0001181	Adducted thumb	79868	ALG13	ORPHA:324422
HP:0001181	Adducted thumb	259232	NALCN	OMIM:616266
HP:0001181	Adducted thumb	259232	NALCN	ORPHA:1147
HP:0001181	Adducted thumb	259232	NALCN	ORPHA:1146
HP:0001181	Adducted thumb	23483	TGDS	OMIM:616145
HP:0001181	Adducted thumb	729920	CRPPA	OMIM:614643
HP:0001181	Adducted thumb	7136	TNNI2	ORPHA:1147
HP:0001181	Adducted thumb	7136	TNNI2	ORPHA:1146
HP:0001181	Adducted thumb	10273	STUB1	ORPHA:412057
HP:0001181	Adducted thumb	1387	CREBBP	ORPHA:353277
HP:0001181	Adducted thumb	4604	MYBPC1	ORPHA:1146
HP:0001181	Adducted thumb	10516	FBLN5	ORPHA:90348
HP:0001181	Adducted thumb	81857	MED25	ORPHA:464738
HP:0001181	Adducted thumb	57211	ADGRG6	OMIM:616503
HP:0001181	Adducted thumb	9939	RBM8A	ORPHA:3320
HP:0001181	Adducted thumb	9939	RBM8A	OMIM:274000
HP:0001181	Adducted thumb	29940	DSE	OMIM:615539
HP:0001181	Adducted thumb	3756	KCNH1	OMIM:611816
HP:0001181	Adducted thumb	23299	BICD2	OMIM:618291
HP:0001181	Adducted thumb	10195	ALG3	OMIM:601110
HP:0001181	Adducted thumb	7703	PCGF2	OMIM:618371
HP:0001181	Adducted thumb	10943	MSL3	OMIM:301032
HP:0001181	Adducted thumb	3977	LIFR	OMIM:601559
HP:0001181	Adducted thumb	9427	ECEL1	OMIM:615065
HP:0001181	Adducted thumb	6999	TDO2	OMIM:600627
HP:0001181	Adducted thumb	84896	ATAD1	OMIM:618011
HP:0001181	Adducted thumb	2036	EPB41L1	OMIM:614257
HP:0001181	Adducted thumb	51002	TPRKB	ORPHA:2065
HP:0001181	Adducted thumb	84942	WDR73	ORPHA:2065
HP:0001181	Adducted thumb	55644	OSGEP	ORPHA:2065
HP:0001181	Adducted thumb	57122	NUP107	ORPHA:2065
HP:0001181	Adducted thumb	10785	WDR4	ORPHA:2065
HP:0001181	Adducted thumb	55746	NUP133	ORPHA:2065
HP:0001181	Adducted thumb	112858	TP53RK	ORPHA:2065
HP:0001181	Adducted thumb	8270	LAGE3	ORPHA:2065
HP:0001181	Adducted thumb	9244	CRLF1	OMIM:272430
HP:0005648	Bilateral ulnar hypoplasia	4920	ROR2	OMIM:268310
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	OMIM:616849
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:615072
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	ORPHA:63442
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:113100
HP:0004220	Short middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	650	BMP2	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0004220	Short middle phalanx of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004220	Short middle phalanx of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004220	Short middle phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004220	Short middle phalanx of the 5th finger	51199	NIN	ORPHA:319675
HP:0004220	Short middle phalanx of the 5th finger	51199	NIN	OMIM:614851
HP:0004220	Short middle phalanx of the 5th finger	7474	WNT5A	OMIM:180700
HP:0004220	Short middle phalanx of the 5th finger	1855	DVL1	OMIM:180700
HP:0004220	Short middle phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0004220	Short middle phalanx of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004220	Short middle phalanx of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004220	Short middle phalanx of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0004220	Short middle phalanx of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004220	Short middle phalanx of the 5th finger	860	RUNX2	OMIM:119600
HP:0004220	Short middle phalanx of the 5th finger	860	RUNX2	OMIM:156510
HP:0004220	Short middle phalanx of the 5th finger	2623	GATA1	OMIM:190685
HP:0004220	Short middle phalanx of the 5th finger	2783	GNB2	OMIM:619503
HP:0004220	Short middle phalanx of the 5th finger	2697	GJA1	OMIM:164200
HP:0004220	Short middle phalanx of the 5th finger	5932	RBBP8	OMIM:251255
HP:5200058	Sensory hypersensitivity	1497	CTNS	OMIM:219800
HP:5200058	Sensory hypersensitivity	1497	CTNS	OMIM:219750
HP:5200058	Sensory hypersensitivity	1497	CTNS	ORPHA:411629
HP:5200058	Sensory hypersensitivity	1497	CTNS	OMIM:219900
HP:5200058	Sensory hypersensitivity	1497	CTNS	ORPHA:411641
HP:5200058	Sensory hypersensitivity	1497	CTNS	ORPHA:411634
HP:5200058	Sensory hypersensitivity	778	CACNA1F	OMIM:300476
HP:5200058	Sensory hypersensitivity	778	CACNA1F	ORPHA:1872
HP:5200058	Sensory hypersensitivity	1161	ERCC8	ORPHA:90324
HP:5200058	Sensory hypersensitivity	1161	ERCC8	ORPHA:90321
HP:5200058	Sensory hypersensitivity	1161	ERCC8	ORPHA:90322
HP:5200058	Sensory hypersensitivity	2074	ERCC6	ORPHA:90324
HP:5200058	Sensory hypersensitivity	2074	ERCC6	ORPHA:90321
HP:5200058	Sensory hypersensitivity	2074	ERCC6	ORPHA:90322
HP:5200058	Sensory hypersensitivity	7299	TYR	OMIM:203100
HP:5200058	Sensory hypersensitivity	7299	TYR	OMIM:606952
HP:5200058	Sensory hypersensitivity	7299	TYR	ORPHA:79431
HP:5200058	Sensory hypersensitivity	7299	TYR	ORPHA:79434
HP:5200058	Sensory hypersensitivity	4166	CHST6	ORPHA:98969
HP:5200058	Sensory hypersensitivity	4166	CHST6	OMIM:217800
HP:5200058	Sensory hypersensitivity	2780	GNAT2	OMIM:613856
HP:5200058	Sensory hypersensitivity	2780	GNAT2	ORPHA:1871
HP:5200058	Sensory hypersensitivity	2780	GNAT2	ORPHA:49382
HP:5200058	Sensory hypersensitivity	4047	LSS	ORPHA:2850
HP:5200058	Sensory hypersensitivity	197	AHSG	ORPHA:2850
HP:5200058	Sensory hypersensitivity	3694	ITGB6	ORPHA:2850
HP:5200058	Sensory hypersensitivity	5111	PCNA	OMIM:615919
HP:5200058	Sensory hypersensitivity	5111	PCNA	ORPHA:438134
HP:5200058	Sensory hypersensitivity	7045	TGFBI	ORPHA:98962
HP:5200058	Sensory hypersensitivity	7045	TGFBI	ORPHA:98964
HP:5200058	Sensory hypersensitivity	7045	TGFBI	ORPHA:98960
HP:5200058	Sensory hypersensitivity	7045	TGFBI	OMIM:608470
HP:5200058	Sensory hypersensitivity	7045	TGFBI	OMIM:602082
HP:5200058	Sensory hypersensitivity	2072	ERCC4	ORPHA:90321
HP:5200058	Sensory hypersensitivity	2072	ERCC4	ORPHA:910
HP:5200058	Sensory hypersensitivity	2067	ERCC1	ORPHA:90322
HP:5200058	Sensory hypersensitivity	6720	SREBF1	OMIM:158310
HP:5200058	Sensory hypersensitivity	6720	SREBF1	OMIM:619016
HP:5200058	Sensory hypersensitivity	54714	CNGB3	OMIM:262300
HP:5200058	Sensory hypersensitivity	54714	CNGB3	ORPHA:1871
HP:5200058	Sensory hypersensitivity	54714	CNGB3	ORPHA:49382
HP:5200058	Sensory hypersensitivity	162	AP1B1	OMIM:242150
HP:5200058	Sensory hypersensitivity	1638	DCT	OMIM:619165
HP:5200058	Sensory hypersensitivity	755	CFAP410	OMIM:617547
HP:5200058	Sensory hypersensitivity	755	CFAP410	ORPHA:1872
HP:5200058	Sensory hypersensitivity	26504	CNNM4	ORPHA:1873
HP:5200058	Sensory hypersensitivity	26504	CNNM4	OMIM:217080
HP:5200058	Sensory hypersensitivity	8842	PROM1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	8842	PROM1	ORPHA:791
HP:5200058	Sensory hypersensitivity	22926	ATF6	ORPHA:1872
HP:5200058	Sensory hypersensitivity	22926	ATF6	ORPHA:49382
HP:5200058	Sensory hypersensitivity	22926	ATF6	OMIM:616517
HP:5200058	Sensory hypersensitivity	64802	NMNAT1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	64802	NMNAT1	OMIM:608553
HP:5200058	Sensory hypersensitivity	84839	RAX2	ORPHA:1872
HP:5200058	Sensory hypersensitivity	84839	RAX2	OMIM:610381
HP:5200058	Sensory hypersensitivity	57096	RPGRIP1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	57096	RPGRIP1	OMIM:608194
HP:5200058	Sensory hypersensitivity	57096	RPGRIP1	OMIM:613826
HP:5200058	Sensory hypersensitivity	24	ABCA4	ORPHA:1872
HP:5200058	Sensory hypersensitivity	24	ABCA4	ORPHA:791
HP:5200058	Sensory hypersensitivity	1261	CNGA3	ORPHA:1872
HP:5200058	Sensory hypersensitivity	1261	CNGA3	ORPHA:49382
HP:5200058	Sensory hypersensitivity	1261	CNGA3	OMIM:216900
HP:5200058	Sensory hypersensitivity	92211	CDHR1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	92211	CDHR1	OMIM:613660
HP:5200058	Sensory hypersensitivity	92211	CDHR1	ORPHA:791
HP:5200058	Sensory hypersensitivity	5956	OPN1LW	ORPHA:1872
HP:5200058	Sensory hypersensitivity	5956	OPN1LW	OMIM:303700
HP:5200058	Sensory hypersensitivity	5956	OPN1LW	ORPHA:16
HP:5200058	Sensory hypersensitivity	5961	PRPH2	ORPHA:1872
HP:5200058	Sensory hypersensitivity	5961	PRPH2	ORPHA:52427
HP:5200058	Sensory hypersensitivity	5961	PRPH2	ORPHA:791
HP:5200058	Sensory hypersensitivity	5961	PRPH2	OMIM:613105
HP:5200058	Sensory hypersensitivity	5961	PRPH2	OMIM:169150
HP:5200058	Sensory hypersensitivity	5961	PRPH2	OMIM:608161
HP:5200058	Sensory hypersensitivity	8754	ADAM9	ORPHA:1872
HP:5200058	Sensory hypersensitivity	3000	GUCY2D	ORPHA:1872
HP:5200058	Sensory hypersensitivity	3000	GUCY2D	OMIM:204000
HP:5200058	Sensory hypersensitivity	3000	GUCY2D	OMIM:601777
HP:5200058	Sensory hypersensitivity	22999	RIMS1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	128338	DRAM2	ORPHA:1872
HP:5200058	Sensory hypersensitivity	128338	DRAM2	OMIM:616502
HP:5200058	Sensory hypersensitivity	6103	RPGR	ORPHA:1872
HP:5200058	Sensory hypersensitivity	6103	RPGR	OMIM:304020
HP:5200058	Sensory hypersensitivity	6103	RPGR	ORPHA:49382
HP:5200058	Sensory hypersensitivity	6103	RPGR	ORPHA:791
HP:5200058	Sensory hypersensitivity	6103	RPGR	OMIM:300029
HP:5200058	Sensory hypersensitivity	2652	OPN1MW	ORPHA:1872
HP:5200058	Sensory hypersensitivity	2652	OPN1MW	OMIM:303700
HP:5200058	Sensory hypersensitivity	2652	OPN1MW	ORPHA:16
HP:5200058	Sensory hypersensitivity	1406	CRX	ORPHA:1872
HP:5200058	Sensory hypersensitivity	1406	CRX	ORPHA:791
HP:5200058	Sensory hypersensitivity	1406	CRX	OMIM:613829
HP:5200058	Sensory hypersensitivity	9094	UNC119	ORPHA:1872
HP:5200058	Sensory hypersensitivity	93589	CACNA2D4	ORPHA:1872
HP:5200058	Sensory hypersensitivity	93589	CACNA2D4	OMIM:610478
HP:5200058	Sensory hypersensitivity	2978	GUCA1A	ORPHA:1872
HP:5200058	Sensory hypersensitivity	2978	GUCA1A	ORPHA:1871
HP:5200058	Sensory hypersensitivity	2978	GUCA1A	OMIM:602093
HP:5200058	Sensory hypersensitivity	282809	POC1B	ORPHA:1872
HP:5200058	Sensory hypersensitivity	64218	SEMA4A	ORPHA:1872
HP:5200058	Sensory hypersensitivity	64218	SEMA4A	OMIM:610283
HP:5200058	Sensory hypersensitivity	64218	SEMA4A	ORPHA:791
HP:5200058	Sensory hypersensitivity	83394	PITPNM3	ORPHA:1872
HP:5200058	Sensory hypersensitivity	83394	PITPNM3	OMIM:600977
HP:5200058	Sensory hypersensitivity	23093	TTLL5	ORPHA:1872
HP:5200058	Sensory hypersensitivity	83723	TLCD3B	ORPHA:1872
HP:5200058	Sensory hypersensitivity	83723	TLCD3B	OMIM:619531
HP:5200058	Sensory hypersensitivity	157657	CFAP418	ORPHA:1872
HP:5200058	Sensory hypersensitivity	157657	CFAP418	OMIM:614500
HP:5200058	Sensory hypersensitivity	157657	CFAP418	ORPHA:791
HP:5200058	Sensory hypersensitivity	23746	AIPL1	ORPHA:1872
HP:5200058	Sensory hypersensitivity	9364	RAB28	ORPHA:1872
HP:5200058	Sensory hypersensitivity	5146	PDE6C	ORPHA:1871
HP:5200058	Sensory hypersensitivity	5146	PDE6C	OMIM:613093
HP:5200058	Sensory hypersensitivity	5146	PDE6C	ORPHA:49382
HP:5200058	Sensory hypersensitivity	224	ALDH3A2	ORPHA:816
HP:5200058	Sensory hypersensitivity	224	ALDH3A2	OMIM:270200
HP:5200058	Sensory hypersensitivity	56623	INPP5E	ORPHA:75858
HP:5200058	Sensory hypersensitivity	169522	KCNV2	OMIM:610356
HP:5200058	Sensory hypersensitivity	6507	SLC1A3	OMIM:612656
HP:5200058	Sensory hypersensitivity	6507	SLC1A3	ORPHA:209967
HP:5200058	Sensory hypersensitivity	200576	PIKFYVE	OMIM:121850
HP:5200058	Sensory hypersensitivity	63915	BLOC1S5	OMIM:619172
HP:5200058	Sensory hypersensitivity	3105	HLA-A	ORPHA:179
HP:5200058	Sensory hypersensitivity	4072	EPCAM	ORPHA:92050
HP:5200058	Sensory hypersensitivity	105371045	PERCC1	ORPHA:92050
HP:5200058	Sensory hypersensitivity	51360	MBTPS2	ORPHA:2273
HP:5200058	Sensory hypersensitivity	51360	MBTPS2	OMIM:308800
HP:5200058	Sensory hypersensitivity	51360	MBTPS2	OMIM:308205
HP:5200058	Sensory hypersensitivity	4137	MAPT	ORPHA:240071
HP:5200058	Sensory hypersensitivity	4137	MAPT	OMIM:601104
HP:5200058	Sensory hypersensitivity	283652	SLC24A5	OMIM:113750
HP:5200058	Sensory hypersensitivity	283652	SLC24A5	ORPHA:370097
HP:5200058	Sensory hypersensitivity	79797	ZNF408	OMIM:616469
HP:5200058	Sensory hypersensitivity	79797	ZNF408	ORPHA:791
HP:5200058	Sensory hypersensitivity	64834	ELOVL1	OMIM:618527
HP:5200058	Sensory hypersensitivity	3850	KRT3	OMIM:618767
HP:5200058	Sensory hypersensitivity	7840	ALMS1	OMIM:203800
HP:5200058	Sensory hypersensitivity	7840	ALMS1	ORPHA:64
HP:5200058	Sensory hypersensitivity	80326	WNT10A	OMIM:257980
HP:5200058	Sensory hypersensitivity	80326	WNT10A	OMIM:150400
HP:5200058	Sensory hypersensitivity	8546	AP3B1	OMIM:608233
HP:5200058	Sensory hypersensitivity	1130	LYST	ORPHA:167
HP:5200058	Sensory hypersensitivity	1130	LYST	OMIM:214500
HP:5200058	Sensory hypersensitivity	1678	TIMM8A	OMIM:304700
HP:5200058	Sensory hypersensitivity	1678	TIMM8A	ORPHA:52368
HP:5200058	Sensory hypersensitivity	1420	CRYGC	OMIM:604307
HP:5200058	Sensory hypersensitivity	1282	COL4A1	OMIM:180000
HP:5200058	Sensory hypersensitivity	4053	LTBP2	OMIM:613086
HP:5200058	Sensory hypersensitivity	5333	PLCD1	ORPHA:2387
HP:5200058	Sensory hypersensitivity	1474	CST6	OMIM:618535
HP:5200058	Sensory hypersensitivity	10804	GJB6	ORPHA:477
HP:5200058	Sensory hypersensitivity	10804	GJB6	OMIM:129500
HP:5200058	Sensory hypersensitivity	2706	GJB2	ORPHA:477
HP:5200058	Sensory hypersensitivity	2706	GJB2	OMIM:148210
HP:5200058	Sensory hypersensitivity	3769	KCNJ13	OMIM:614186
HP:5200058	Sensory hypersensitivity	5149	PDE6H	OMIM:610024
HP:5200058	Sensory hypersensitivity	5149	PDE6H	ORPHA:49382
HP:5200058	Sensory hypersensitivity	3035	HARS1	OMIM:614504
HP:5200058	Sensory hypersensitivity	10908	PNPLA6	OMIM:215470
HP:5200058	Sensory hypersensitivity	1909	EDNRA	OMIM:157300
HP:5200058	Sensory hypersensitivity	2099	ESR1	OMIM:157300
HP:5200058	Sensory hypersensitivity	7124	TNF	OMIM:157300
HP:5200058	Sensory hypersensitivity	6017	RLBP1	ORPHA:52427
HP:5200058	Sensory hypersensitivity	6017	RLBP1	ORPHA:791
HP:5200058	Sensory hypersensitivity	6010	RHO	ORPHA:52427
HP:5200058	Sensory hypersensitivity	6010	RHO	ORPHA:791
HP:5200058	Sensory hypersensitivity	5959	RDH5	ORPHA:52427
HP:5200058	Sensory hypersensitivity	3098	HK1	OMIM:617460
HP:5200058	Sensory hypersensitivity	79803	HPS6	OMIM:614075
HP:5200058	Sensory hypersensitivity	3859	KRT12	OMIM:122100
HP:5200058	Sensory hypersensitivity	6121	RPE65	OMIM:204100
HP:5200058	Sensory hypersensitivity	6121	RPE65	ORPHA:791
HP:5200058	Sensory hypersensitivity	6121	RPE65	ORPHA:364055
HP:5200058	Sensory hypersensitivity	326	AIRE	ORPHA:3453
HP:5200058	Sensory hypersensitivity	57192	MCOLN1	ORPHA:578
HP:5200058	Sensory hypersensitivity	57192	MCOLN1	OMIM:252650
HP:5200058	Sensory hypersensitivity	10002	NR2E3	OMIM:611131
HP:5200058	Sensory hypersensitivity	10002	NR2E3	ORPHA:791
HP:5200058	Sensory hypersensitivity	340024	SLC6A19	ORPHA:2116
HP:5200058	Sensory hypersensitivity	57393	CLTRN	ORPHA:2116
HP:5200058	Sensory hypersensitivity	83938	LRMDA	OMIM:615179
HP:5200058	Sensory hypersensitivity	11152	WDR45	OMIM:615179
HP:5200058	Sensory hypersensitivity	84168	ANTXR1	OMIM:230740
HP:5200058	Sensory hypersensitivity	84131	CEP78	OMIM:617236
HP:5200058	Sensory hypersensitivity	1634	DCN	OMIM:610048
HP:5200058	Sensory hypersensitivity	404672	GTF2H5	ORPHA:33364
HP:5200058	Sensory hypersensitivity	833	CARS1	ORPHA:33364
HP:5200058	Sensory hypersensitivity	2068	ERCC2	ORPHA:33364
HP:5200058	Sensory hypersensitivity	2068	ERCC2	ORPHA:910
HP:5200058	Sensory hypersensitivity	2068	ERCC2	OMIM:601675
HP:5200058	Sensory hypersensitivity	2068	ERCC2	OMIM:278730
HP:5200058	Sensory hypersensitivity	7737	RNF113A	ORPHA:33364
HP:5200058	Sensory hypersensitivity	136647	MPLKIP	ORPHA:33364
HP:5200058	Sensory hypersensitivity	6897	TARS1	ORPHA:33364
HP:5200058	Sensory hypersensitivity	2071	ERCC3	ORPHA:33364
HP:5200058	Sensory hypersensitivity	2071	ERCC3	ORPHA:910
HP:5200058	Sensory hypersensitivity	2961	GTF2E2	ORPHA:33364
HP:5200058	Sensory hypersensitivity	2303	FOXC2	ORPHA:33001
HP:5200058	Sensory hypersensitivity	2303	FOXC2	OMIM:153400
HP:5200058	Sensory hypersensitivity	64127	NOD2	ORPHA:90340
HP:5200058	Sensory hypersensitivity	5429	POLH	ORPHA:90342
HP:5200058	Sensory hypersensitivity	5429	POLH	OMIM:278750
HP:5200058	Sensory hypersensitivity	6314	ATXN7	ORPHA:94147
HP:5200058	Sensory hypersensitivity	8943	AP3D1	ORPHA:54
HP:5200058	Sensory hypersensitivity	8943	AP3D1	ORPHA:1000
HP:5200058	Sensory hypersensitivity	4935	GPR143	ORPHA:54
HP:5200058	Sensory hypersensitivity	4935	GPR143	OMIM:300500
HP:5200058	Sensory hypersensitivity	8481	OFD1	OMIM:300424
HP:5200058	Sensory hypersensitivity	8481	OFD1	ORPHA:791
HP:5200058	Sensory hypersensitivity	58495	OVOL2	OMIM:122000
HP:5200058	Sensory hypersensitivity	58495	OVOL2	ORPHA:98973
HP:5200058	Sensory hypersensitivity	2697	GJA1	ORPHA:1010
HP:5200058	Sensory hypersensitivity	6323	SCN1A	OMIM:609634
HP:5200058	Sensory hypersensitivity	4157	MC1R	ORPHA:79432
HP:5200058	Sensory hypersensitivity	4948	OCA2	ORPHA:79432
HP:5200058	Sensory hypersensitivity	6935	ZEB1	ORPHA:98973
HP:5200058	Sensory hypersensitivity	30813	VSX1	ORPHA:98973
HP:5200058	Sensory hypersensitivity	79977	GRHL2	ORPHA:98973
HP:5200058	Sensory hypersensitivity	1296	COL8A2	ORPHA:98973
HP:5200058	Sensory hypersensitivity	7507	XPA	ORPHA:910
HP:5200058	Sensory hypersensitivity	7508	XPC	ORPHA:910
HP:5200058	Sensory hypersensitivity	7508	XPC	OMIM:278720
HP:5200058	Sensory hypersensitivity	1643	DDB2	ORPHA:910
HP:5200058	Sensory hypersensitivity	1643	DDB2	OMIM:278740
HP:5200058	Sensory hypersensitivity	2073	ERCC5	ORPHA:910
HP:5200058	Sensory hypersensitivity	51151	SLC45A2	ORPHA:79435
HP:5200058	Sensory hypersensitivity	149233	IL23R	ORPHA:117
HP:5200058	Sensory hypersensitivity	6775	STAT4	ORPHA:117
HP:5200058	Sensory hypersensitivity	3586	IL10	ORPHA:117
HP:5200058	Sensory hypersensitivity	4210	MEFV	ORPHA:117
HP:5200058	Sensory hypersensitivity	1230	CCR1	ORPHA:117
HP:5200058	Sensory hypersensitivity	355	FAS	ORPHA:117
HP:5200058	Sensory hypersensitivity	3592	IL12A	ORPHA:117
HP:5200058	Sensory hypersensitivity	101928376	IL12A-AS1	ORPHA:117
HP:5200058	Sensory hypersensitivity	3106	HLA-B	ORPHA:117
HP:5200058	Sensory hypersensitivity	3106	HLA-B	ORPHA:29207
HP:5200058	Sensory hypersensitivity	3106	HLA-B	ORPHA:36426
HP:5200058	Sensory hypersensitivity	7099	TLR4	ORPHA:117
HP:5200058	Sensory hypersensitivity	3459	IFNGR1	ORPHA:117
HP:5200058	Sensory hypersensitivity	720	C4A	ORPHA:117
HP:5200058	Sensory hypersensitivity	337867	UBAC2	ORPHA:117
HP:5200058	Sensory hypersensitivity	51752	ERAP1	ORPHA:117
HP:5200058	Sensory hypersensitivity	8302	KLRC4	ORPHA:117
HP:5200058	Sensory hypersensitivity	92840	REEP6	ORPHA:791
HP:5200058	Sensory hypersensitivity	6094	ROM1	ORPHA:791
HP:5200058	Sensory hypersensitivity	7401	CLRN1	ORPHA:791
HP:5200058	Sensory hypersensitivity	130557	ZNF513	ORPHA:791
HP:5200058	Sensory hypersensitivity	582	BBS1	ORPHA:791
HP:5200058	Sensory hypersensitivity	23568	ARL2BP	ORPHA:791
HP:5200058	Sensory hypersensitivity	54806	AHI1	ORPHA:791
HP:5200058	Sensory hypersensitivity	6101	RP1	ORPHA:791
HP:5200058	Sensory hypersensitivity	3419	IDH3A	ORPHA:791
HP:5200058	Sensory hypersensitivity	4751	NEK2	ORPHA:791
HP:5200058	Sensory hypersensitivity	346007	EYS	ORPHA:791
HP:5200058	Sensory hypersensitivity	346007	EYS	OMIM:602772
HP:5200058	Sensory hypersensitivity	8100	IFT88	ORPHA:791
HP:5200058	Sensory hypersensitivity	23020	SNRNP200	ORPHA:791
HP:5200058	Sensory hypersensitivity	762	CA4	ORPHA:791
HP:5200058	Sensory hypersensitivity	138050	HGSNAT	ORPHA:791
HP:5200058	Sensory hypersensitivity	196	AHR	ORPHA:791
HP:5200058	Sensory hypersensitivity	3614	IMPDH1	ORPHA:791
HP:5200058	Sensory hypersensitivity	123016	TTC8	ORPHA:791
HP:5200058	Sensory hypersensitivity	123016	TTC8	OMIM:613464
HP:5200058	Sensory hypersensitivity	5148	PDE6G	ORPHA:791
HP:5200058	Sensory hypersensitivity	26160	IFT172	ORPHA:791
HP:5200058	Sensory hypersensitivity	26121	PRPF31	ORPHA:791
HP:5200058	Sensory hypersensitivity	583	BBS2	ORPHA:791
HP:5200058	Sensory hypersensitivity	4117	MAK	ORPHA:791
HP:5200058	Sensory hypersensitivity	25794	FSCN2	ORPHA:791
HP:5200058	Sensory hypersensitivity	375298	CERKL	ORPHA:791
HP:5200058	Sensory hypersensitivity	3420	IDH3B	ORPHA:791
HP:5200058	Sensory hypersensitivity	57670	KIAA1549	ORPHA:791
HP:5200058	Sensory hypersensitivity	7275	TUB	ORPHA:791
HP:5200058	Sensory hypersensitivity	24148	PRPF6	ORPHA:791
HP:5200058	Sensory hypersensitivity	23418	CRB1	ORPHA:791
HP:5200058	Sensory hypersensitivity	10461	MERTK	ORPHA:791
HP:5200058	Sensory hypersensitivity	57709	SLC7A14	ORPHA:791
HP:5200058	Sensory hypersensitivity	768206	PRCD	ORPHA:791
HP:5200058	Sensory hypersensitivity	7399	USH2A	ORPHA:791
HP:5200058	Sensory hypersensitivity	23370	ARHGEF18	ORPHA:791
HP:5200058	Sensory hypersensitivity	5949	RBP3	ORPHA:791
HP:5200058	Sensory hypersensitivity	6100	RP9	ORPHA:791
HP:5200058	Sensory hypersensitivity	9227	LRAT	ORPHA:791
HP:5200058	Sensory hypersensitivity	9227	LRAT	ORPHA:364055
HP:5200058	Sensory hypersensitivity	9227	LRAT	OMIM:613341
HP:5200058	Sensory hypersensitivity	84140	FAM161A	ORPHA:791
HP:5200058	Sensory hypersensitivity	55812	SPATA7	ORPHA:791
HP:5200058	Sensory hypersensitivity	55812	SPATA7	ORPHA:364055
HP:5200058	Sensory hypersensitivity	55624	POMGNT1	ORPHA:791
HP:5200058	Sensory hypersensitivity	403	ARL3	ORPHA:791
HP:5200058	Sensory hypersensitivity	5145	PDE6A	ORPHA:791
HP:5200058	Sensory hypersensitivity	10210	TOPORS	ORPHA:791
HP:5200058	Sensory hypersensitivity	9128	PRPF4	ORPHA:791
HP:5200058	Sensory hypersensitivity	145226	RDH12	ORPHA:791
HP:5200058	Sensory hypersensitivity	50939	IMPG2	ORPHA:791
HP:5200058	Sensory hypersensitivity	49855	SCAPER	ORPHA:791
HP:5200058	Sensory hypersensitivity	9742	IFT140	ORPHA:791
HP:5200058	Sensory hypersensitivity	2979	GUCA1B	ORPHA:791
HP:5200058	Sensory hypersensitivity	1259	CNGA1	ORPHA:791
HP:5200058	Sensory hypersensitivity	1258	CNGB1	ORPHA:791
HP:5200058	Sensory hypersensitivity	60509	AGBL5	ORPHA:791
HP:5200058	Sensory hypersensitivity	388939	PCARE	ORPHA:791
HP:5200058	Sensory hypersensitivity	7439	BEST1	ORPHA:791
HP:5200058	Sensory hypersensitivity	9785	DHX38	ORPHA:791
HP:5200058	Sensory hypersensitivity	7287	TULP1	ORPHA:791
HP:5200058	Sensory hypersensitivity	7287	TULP1	OMIM:613843
HP:5200058	Sensory hypersensitivity	5995	RGR	ORPHA:791
HP:5200058	Sensory hypersensitivity	9129	PRPF3	ORPHA:791
HP:5200058	Sensory hypersensitivity	55975	KLHL7	ORPHA:791
HP:5200058	Sensory hypersensitivity	3617	IMPG1	ORPHA:791
HP:5200058	Sensory hypersensitivity	94137	RP1L1	ORPHA:791
HP:5200058	Sensory hypersensitivity	5158	PDE6B	ORPHA:791
HP:5200058	Sensory hypersensitivity	6102	RP2	ORPHA:791
HP:5200058	Sensory hypersensitivity	55857	KIZ	ORPHA:791
HP:5200058	Sensory hypersensitivity	4901	NRL	ORPHA:791
HP:5200058	Sensory hypersensitivity	10594	PRPF8	ORPHA:791
HP:5200058	Sensory hypersensitivity	84100	ARL6	ORPHA:791
HP:5200058	Sensory hypersensitivity	6295	SAG	ORPHA:791
HP:5200058	Sensory hypersensitivity	79947	DHDDS	ORPHA:791
HP:5200058	Sensory hypersensitivity	8626	TP63	OMIM:604292
HP:5200058	Sensory hypersensitivity	8626	TP63	ORPHA:1896
HP:5200058	Sensory hypersensitivity	55630	SLC39A4	ORPHA:37
HP:5200058	Sensory hypersensitivity	167691	LCA5	ORPHA:364055
HP:5200058	Sensory hypersensitivity	114902	C1QTNF5	ORPHA:67042
HP:5200058	Sensory hypersensitivity	83552	MFRP	OMIM:611040
HP:5200058	Sensory hypersensitivity	22861	NLRP1	OMIM:617388
HP:5200058	Sensory hypersensitivity	2784	GNB3	OMIM:617024
HP:5200058	Sensory hypersensitivity	84816	RTN4IP1	OMIM:616732
HP:5200058	Sensory hypersensitivity	11190	CEP250	OMIM:618358
HP:5200058	Sensory hypersensitivity	611	OPN1SW	ORPHA:88629
HP:5200058	Sensory hypersensitivity	10320	IKZF1	ORPHA:36426
HP:5200058	Sensory hypersensitivity	6768	ST14	OMIM:602400
HP:5200058	Sensory hypersensitivity	6898	TAT	ORPHA:28378
HP:5200058	Sensory hypersensitivity	9445	ITM2B	OMIM:616079
HP:5200058	Sensory hypersensitivity	6785	ELOVL4	OMIM:614457
HP:5200058	Sensory hypersensitivity	2202	EFEMP1	ORPHA:75376
HP:5200058	Sensory hypersensitivity	3075	CFH	ORPHA:75376
HP:5200058	Sensory hypersensitivity	3426	CFI	ORPHA:75376
HP:5200058	Sensory hypersensitivity	388531	RGS9BP	ORPHA:75374
HP:5200058	Sensory hypersensitivity	8787	RGS9	ORPHA:75374
HP:5200058	Sensory hypersensitivity	100996717	NOTCH2NLC	OMIM:619473
HP:5200058	Sensory hypersensitivity	4070	TACSTD2	OMIM:204870
HP:5200058	Sensory hypersensitivity	114548	NLRP3	OMIM:148200
HP:5200058	Sensory hypersensitivity	3257	HPS1	OMIM:203300
HP:5200058	Sensory hypersensitivity	1308	COL17A1	ORPHA:293381
HP:5200058	Sensory hypersensitivity	1308	COL17A1	OMIM:122400
HP:5200058	Sensory hypersensitivity	57010	CABP4	OMIM:610427
HP:5200058	Sensory hypersensitivity	3123	HLA-DRB1	OMIM:181000
HP:5200058	Sensory hypersensitivity	5422	POLA1	OMIM:301220
HP:5200058	Sensory hypersensitivity	22943	DKK1	ORPHA:268882
HP:5200058	Sensory hypersensitivity	2990	GUSB	OMIM:253220
HP:5200058	Sensory hypersensitivity	10383	TUBB4B	OMIM:617879
HP:5200058	Sensory hypersensitivity	2581	GALC	ORPHA:206436
HP:5200058	Sensory hypersensitivity	5660	PSAP	ORPHA:206436
HP:5200058	Sensory hypersensitivity	8139	GAN	OMIM:256850
HP:5200058	Sensory hypersensitivity	3030	HADHA	ORPHA:5
HP:5200058	Sensory hypersensitivity	23155	CLCC1	OMIM:609913
HP:5200058	Sensory hypersensitivity	9699	RIMS2	OMIM:618970
HP:5200058	Sensory hypersensitivity	10939	AFG3L2	OMIM:618977
HP:5200058	Sensory hypersensitivity	3852	KRT5	ORPHA:79396
HP:5200058	Sensory hypersensitivity	3861	KRT14	ORPHA:79396
HP:5200058	Sensory hypersensitivity	1387	CREBBP	OMIM:180849
HP:5200058	Sensory hypersensitivity	2033	EP300	OMIM:180849
HP:5200058	Sensory hypersensitivity	7204	TRIO	OMIM:617061
HP:5200058	Sensory hypersensitivity	3074	HEXB	ORPHA:309155
HP:5200058	Sensory hypersensitivity	8493	PPM1D	OMIM:617450
HP:5200058	Sensory hypersensitivity	2760	GM2A	ORPHA:309246
HP:5200058	Sensory hypersensitivity	2760	GM2A	OMIM:272750
HP:5200058	Sensory hypersensitivity	10743	RAI1	OMIM:182290
HP:5200058	Sensory hypersensitivity	10743	RAI1	ORPHA:819
HP:5200058	Sensory hypersensitivity	6804	STX1A	ORPHA:904
HP:5200058	Sensory hypersensitivity	7461	CLIP2	ORPHA:904
HP:5200058	Sensory hypersensitivity	84277	DNAJC30	ORPHA:904
HP:5200058	Sensory hypersensitivity	8468	FKBP6	ORPHA:904
HP:5200058	Sensory hypersensitivity	5982	RFC2	ORPHA:904
HP:5200058	Sensory hypersensitivity	2969	GTF2I	ORPHA:904
HP:5200058	Sensory hypersensitivity	3984	LIMK1	ORPHA:904
HP:5200058	Sensory hypersensitivity	9569	GTF2IRD1	ORPHA:904
HP:5200058	Sensory hypersensitivity	155382	VPS37D	ORPHA:904
HP:5200058	Sensory hypersensitivity	155368	METTL27	ORPHA:904
HP:5200058	Sensory hypersensitivity	114049	BUD23	ORPHA:904
HP:5200058	Sensory hypersensitivity	7458	EIF4H	ORPHA:904
HP:5200058	Sensory hypersensitivity	84163	GTF2IRD2	ORPHA:904
HP:5200058	Sensory hypersensitivity	9275	BCL7B	ORPHA:904
HP:5200058	Sensory hypersensitivity	26608	TBL2	ORPHA:904
HP:5200058	Sensory hypersensitivity	653361	NCF1	ORPHA:904
HP:5200058	Sensory hypersensitivity	135886	TMEM270	ORPHA:904
HP:5200058	Sensory hypersensitivity	51085	MLXIPL	ORPHA:904
HP:5200058	Sensory hypersensitivity	51085	MLXIPL	OMIM:194050
HP:5200058	Sensory hypersensitivity	9031	BAZ1B	ORPHA:904
HP:5200058	Sensory hypersensitivity	2006	ELN	ORPHA:904
HP:5200058	Sensory hypersensitivity	2006	ELN	OMIM:194050
HP:5200058	Sensory hypersensitivity	2314	FLII	ORPHA:819
HP:5200058	Sensory hypersensitivity	23096	IQSEC2	ORPHA:819
HP:5200058	Sensory hypersensitivity	10522	DEAF1	ORPHA:819
HP:5200058	Sensory hypersensitivity	56947	MFF	ORPHA:485421
HP:5200058	Sensory hypersensitivity	26053	AUTS2	OMIM:615834
HP:5200058	Sensory hypersensitivity	26053	AUTS2	ORPHA:352490
HP:5200060	Auditory hypersensitivity	1909	EDNRA	OMIM:157300
HP:5200060	Auditory hypersensitivity	2099	ESR1	OMIM:157300
HP:5200060	Auditory hypersensitivity	7124	TNF	OMIM:157300
HP:5200060	Auditory hypersensitivity	1387	CREBBP	OMIM:180849
HP:5200060	Auditory hypersensitivity	2033	EP300	OMIM:180849
HP:5200060	Auditory hypersensitivity	6507	SLC1A3	OMIM:612656
HP:5200060	Auditory hypersensitivity	6507	SLC1A3	ORPHA:209967
HP:5200060	Auditory hypersensitivity	6323	SCN1A	OMIM:609634
HP:5200060	Auditory hypersensitivity	7204	TRIO	OMIM:617061
HP:5200060	Auditory hypersensitivity	3074	HEXB	ORPHA:309155
HP:5200060	Auditory hypersensitivity	8493	PPM1D	OMIM:617450
HP:5200060	Auditory hypersensitivity	2760	GM2A	ORPHA:309246
HP:5200060	Auditory hypersensitivity	2760	GM2A	OMIM:272750
HP:5200060	Auditory hypersensitivity	10743	RAI1	OMIM:182290
HP:5200060	Auditory hypersensitivity	10743	RAI1	ORPHA:819
HP:5200060	Auditory hypersensitivity	6804	STX1A	ORPHA:904
HP:5200060	Auditory hypersensitivity	7461	CLIP2	ORPHA:904
HP:5200060	Auditory hypersensitivity	84277	DNAJC30	ORPHA:904
HP:5200060	Auditory hypersensitivity	8468	FKBP6	ORPHA:904
HP:5200060	Auditory hypersensitivity	5982	RFC2	ORPHA:904
HP:5200060	Auditory hypersensitivity	2969	GTF2I	ORPHA:904
HP:5200060	Auditory hypersensitivity	3984	LIMK1	ORPHA:904
HP:5200060	Auditory hypersensitivity	9569	GTF2IRD1	ORPHA:904
HP:5200060	Auditory hypersensitivity	155382	VPS37D	ORPHA:904
HP:5200060	Auditory hypersensitivity	155368	METTL27	ORPHA:904
HP:5200060	Auditory hypersensitivity	114049	BUD23	ORPHA:904
HP:5200060	Auditory hypersensitivity	7458	EIF4H	ORPHA:904
HP:5200060	Auditory hypersensitivity	84163	GTF2IRD2	ORPHA:904
HP:5200060	Auditory hypersensitivity	9275	BCL7B	ORPHA:904
HP:5200060	Auditory hypersensitivity	26608	TBL2	ORPHA:904
HP:5200060	Auditory hypersensitivity	653361	NCF1	ORPHA:904
HP:5200060	Auditory hypersensitivity	135886	TMEM270	ORPHA:904
HP:5200060	Auditory hypersensitivity	51085	MLXIPL	ORPHA:904
HP:5200060	Auditory hypersensitivity	51085	MLXIPL	OMIM:194050
HP:5200060	Auditory hypersensitivity	9031	BAZ1B	ORPHA:904
HP:5200060	Auditory hypersensitivity	2006	ELN	ORPHA:904
HP:5200060	Auditory hypersensitivity	2006	ELN	OMIM:194050
HP:5200060	Auditory hypersensitivity	2314	FLII	ORPHA:819
HP:5200060	Auditory hypersensitivity	23096	IQSEC2	ORPHA:819
HP:5200060	Auditory hypersensitivity	10522	DEAF1	ORPHA:819
HP:5200065	Tactile sensory seeking	4137	MAPT	OMIM:600274
HP:5200065	Tactile sensory seeking	4137	MAPT	ORPHA:275864
HP:5200065	Tactile sensory seeking	4137	MAPT	OMIM:172700
HP:5200065	Tactile sensory seeking	5663	PSEN1	OMIM:600274
HP:5200065	Tactile sensory seeking	5663	PSEN1	ORPHA:275864
HP:5200065	Tactile sensory seeking	5663	PSEN1	OMIM:172700
HP:5200065	Tactile sensory seeking	25978	CHMP2B	ORPHA:275864
HP:5200065	Tactile sensory seeking	25978	CHMP2B	OMIM:600795
HP:5200065	Tactile sensory seeking	2896	GRN	ORPHA:275864
HP:5200065	Tactile sensory seeking	2896	GRN	OMIM:607485
HP:5200065	Tactile sensory seeking	54664	TMEM106B	ORPHA:275864
HP:5200065	Tactile sensory seeking	8878	SQSTM1	ORPHA:275864
HP:5200065	Tactile sensory seeking	54209	TREM2	ORPHA:275864
HP:5200065	Tactile sensory seeking	7415	VCP	ORPHA:275864
HP:5200065	Tactile sensory seeking	5621	PRNP	OMIM:606688
HP:5200065	Tactile sensory seeking	6638	SNRPN	ORPHA:411515
HP:5200065	Tactile sensory seeking	7337	UBE3A	ORPHA:411515
HP:5200065	Tactile sensory seeking	57194	ATP10A	ORPHA:411515
HP:5200065	Tactile sensory seeking	85358	SHANK3	OMIM:606232
HP:5200065	Tactile sensory seeking	54675	CRLS1	OMIM:620167
HP:5200065	Tactile sensory seeking	1639	DCTN1	OMIM:168605
HP:5200065	Tactile sensory seeking	3000	GUCY2D	OMIM:204000
HP:5200065	Tactile sensory seeking	6121	RPE65	OMIM:204100
HP:5200065	Tactile sensory seeking	7287	TULP1	OMIM:613843
HP:5200065	Tactile sensory seeking	23418	CRB1	OMIM:613835
HP:5200065	Tactile sensory seeking	64802	NMNAT1	OMIM:608553
HP:5200065	Tactile sensory seeking	10743	RAI1	OMIM:182290
HP:0005650	2-5 finger cutaneous syndactyly	1147	CHUK	OMIM:619339
HP:0005650	2-5 finger cutaneous syndactyly	7291	TWIST1	OMIM:617746
HP:0005652	Cortical sclerosis	10312	TCIRG1	ORPHA:210110
HP:0005652	Cortical sclerosis	1186	CLCN7	ORPHA:210110
HP:0005652	Cortical sclerosis	9842	PLEKHM1	ORPHA:210110
HP:0005652	Cortical sclerosis	6522	SLC4A2	OMIM:620366
HP:0005652	Cortical sclerosis	50964	SOST	OMIM:122860
HP:0100605	Neoplasm of the larynx	4292	MLH1	OMIM:158320
HP:0100605	Neoplasm of the larynx	4292	MLH1	ORPHA:587
HP:0100605	Neoplasm of the larynx	4436	MSH2	OMIM:158320
HP:0100605	Neoplasm of the larynx	4436	MSH2	ORPHA:587
HP:0100605	Neoplasm of the larynx	2956	MSH6	ORPHA:587
HP:0100605	Neoplasm of the larynx	284654	RSPO1	OMIM:610644
HP:0100605	Neoplasm of the larynx	22861	NLRP1	OMIM:618803
HP:0100605	Neoplasm of the larynx	22861	NLRP1	OMIM:617388
HP:0100605	Neoplasm of the larynx	64840	PORCN	OMIM:305600
HP:0100605	Neoplasm of the larynx	847	CAT	ORPHA:926
HP:0100605	Neoplasm of the larynx	7157	TP53	ORPHA:524
HP:0100605	Neoplasm of the larynx	1029	CDKN2A	ORPHA:524
HP:0100605	Neoplasm of the larynx	4193	MDM2	ORPHA:524
HP:0100605	Neoplasm of the larynx	11200	CHEK2	ORPHA:524
HP:0100606	Neoplasm of the respiratory system	6440	SFTPC	OMIM:178500
HP:0100606	Neoplasm of the respiratory system	727897	MUC5B	OMIM:178500
HP:0100606	Neoplasm of the respiratory system	729238	SFTPA2	OMIM:178500
HP:0100606	Neoplasm of the respiratory system	1288	COL4A6	ORPHA:1018
HP:0100606	Neoplasm of the respiratory system	1287	COL4A5	ORPHA:1018
HP:0100606	Neoplasm of the respiratory system	4292	MLH1	OMIM:158320
HP:0100606	Neoplasm of the respiratory system	4292	MLH1	ORPHA:587
HP:0100606	Neoplasm of the respiratory system	4436	MSH2	OMIM:158320
HP:0100606	Neoplasm of the respiratory system	4436	MSH2	ORPHA:587
HP:0100606	Neoplasm of the respiratory system	2956	MSH6	ORPHA:587
HP:0100606	Neoplasm of the respiratory system	284654	RSPO1	OMIM:610644
HP:0100606	Neoplasm of the respiratory system	6794	STK11	ORPHA:2869
HP:0100606	Neoplasm of the respiratory system	7249	TSC2	OMIM:613254
HP:0100606	Neoplasm of the respiratory system	7249	TSC2	ORPHA:805
HP:0100606	Neoplasm of the respiratory system	7249	TSC2	ORPHA:538
HP:0100606	Neoplasm of the respiratory system	7249	TSC2	OMIM:606690
HP:0100606	Neoplasm of the respiratory system	3458	IFNG	OMIM:613254
HP:0100606	Neoplasm of the respiratory system	3458	IFNG	ORPHA:805
HP:0100606	Neoplasm of the respiratory system	7248	TSC1	ORPHA:805
HP:0100606	Neoplasm of the respiratory system	7248	TSC1	OMIM:191100
HP:0100606	Neoplasm of the respiratory system	7248	TSC1	ORPHA:538
HP:0100606	Neoplasm of the respiratory system	7248	TSC1	OMIM:606690
HP:0100606	Neoplasm of the respiratory system	7157	TP53	OMIM:151623
HP:0100606	Neoplasm of the respiratory system	7157	TP53	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	137682	NDUFAF6	OMIM:618913
HP:0100606	Neoplasm of the respiratory system	8314	BAP1	OMIM:614327
HP:0100606	Neoplasm of the respiratory system	84133	ZNRF3	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	5573	PRKAR1A	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	1499	CTNNB1	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	1029	CDKN2A	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	7015	TERT	ORPHA:1501
HP:0100606	Neoplasm of the respiratory system	64324	NSD1	ORPHA:821
HP:0100606	Neoplasm of the respiratory system	29072	SETD2	ORPHA:821
HP:0100606	Neoplasm of the respiratory system	10297	APC2	ORPHA:821
HP:0100606	Neoplasm of the respiratory system	161742	SPRED1	ORPHA:137605
HP:0100606	Neoplasm of the respiratory system	5071	PRKN	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	3845	KRAS	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	3659	IRF1	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	5002	SLC22A18	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	2074	ERCC6	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	5290	PIK3CA	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	1956	EGFR	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	1548	CYP2A6	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	2064	ERBB2	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	356	FASLG	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	5519	PPP2R1B	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	841	CASP8	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	1326	MAP3K8	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	673	BRAF	OMIM:211980
HP:0100606	Neoplasm of the respiratory system	22861	NLRP1	OMIM:618803
HP:0100606	Neoplasm of the respiratory system	22861	NLRP1	OMIM:617388
HP:0100606	Neoplasm of the respiratory system	64840	PORCN	OMIM:305600
HP:0100606	Neoplasm of the respiratory system	4854	NOTCH3	ORPHA:2591
HP:0100606	Neoplasm of the respiratory system	5159	PDGFRB	ORPHA:2591
HP:0100606	Neoplasm of the respiratory system	25913	POT1	OMIM:616568
HP:0100606	Neoplasm of the respiratory system	7486	WRN	ORPHA:902
HP:0100606	Neoplasm of the respiratory system	3248	HPGD	ORPHA:2796
HP:0100606	Neoplasm of the respiratory system	6578	SLCO2A1	ORPHA:2796
HP:0100606	Neoplasm of the respiratory system	7373	COL14A1	ORPHA:79501
HP:0100606	Neoplasm of the respiratory system	79719	AAGAB	ORPHA:79501
HP:0100606	Neoplasm of the respiratory system	5728	PTEN	ORPHA:744
HP:0100606	Neoplasm of the respiratory system	207	AKT1	ORPHA:744
HP:0100606	Neoplasm of the respiratory system	2130	EWSR1	ORPHA:83469
HP:0100606	Neoplasm of the respiratory system	7490	WT1	ORPHA:83469
HP:0100606	Neoplasm of the respiratory system	7490	WT1	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	5925	RB1	OMIM:182280
HP:0100606	Neoplasm of the respiratory system	65998	ZFTA	ORPHA:251636
HP:0100606	Neoplasm of the respiratory system	5970	RELA	ORPHA:251636
HP:0100606	Neoplasm of the respiratory system	51360	MBTPS2	ORPHA:659
HP:0100606	Neoplasm of the respiratory system	162514	TRPV3	ORPHA:659
HP:0100606	Neoplasm of the respiratory system	64065	PERP	ORPHA:659
HP:0100606	Neoplasm of the respiratory system	4000	LMNA	ORPHA:79474
HP:0100606	Neoplasm of the respiratory system	5978	REST	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	129563	DIS3L2	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	675	BRCA2	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	9319	TRIP13	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	10155	TRIM28	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	11281	POU6F2	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	2719	GPC3	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	283120	H19	ORPHA:654
HP:0100606	Neoplasm of the respiratory system	4665	NAB2	ORPHA:2126
HP:0100606	Neoplasm of the respiratory system	6778	STAT6	ORPHA:2126
HP:0100606	Neoplasm of the respiratory system	23405	DICER1	OMIM:601200
HP:0100606	Neoplasm of the respiratory system	23405	DICER1	OMIM:180295
HP:0100606	Neoplasm of the respiratory system	23405	DICER1	ORPHA:276399
HP:0100606	Neoplasm of the respiratory system	9817	KEAP1	ORPHA:276399
HP:0100606	Neoplasm of the respiratory system	847	CAT	ORPHA:926
HP:0100606	Neoplasm of the respiratory system	4193	MDM2	ORPHA:524
HP:0100606	Neoplasm of the respiratory system	11200	CHEK2	ORPHA:524
HP:0100606	Neoplasm of the respiratory system	4486	MST1R	OMIM:617075
HP:0100606	Neoplasm of the respiratory system	50940	PDE11A	ORPHA:1359
HP:0100607	Dysmenorrhea	4000	LMNA	ORPHA:280365
HP:0100607	Dysmenorrhea	4000	LMNA	ORPHA:2348
HP:0100607	Dysmenorrhea	5256	PHKA2	ORPHA:264580
HP:0100607	Dysmenorrhea	5261	PHKG2	ORPHA:264580
HP:0100607	Dysmenorrhea	1528	CYB5A	ORPHA:90796
HP:0100607	Dysmenorrhea	1586	CYP17A1	ORPHA:90796
HP:0100607	Dysmenorrhea	3481	IGF2	ORPHA:397590
HP:0100607	Dysmenorrhea	1028	CDKN1C	ORPHA:397590
HP:0100607	Dysmenorrhea	5324	PLAG1	ORPHA:397590
HP:0100607	Dysmenorrhea	8091	HMGA2	ORPHA:397590
HP:0100607	Dysmenorrhea	5468	PPARG	ORPHA:79083
HP:0100607	Dysmenorrhea	84168	ANTXR1	ORPHA:2067
HP:0100607	Dysmenorrhea	5257	PHKB	ORPHA:79240
HP:0100607	Dysmenorrhea	83550	GPR101	ORPHA:963
HP:0100607	Dysmenorrhea	9049	AIP	ORPHA:963
HP:0100608	Metrorrhagia	6774	STAT3	ORPHA:520
HP:0100608	Metrorrhagia	5371	PML	ORPHA:520
HP:0100608	Metrorrhagia	5914	RARA	ORPHA:520
HP:0100608	Metrorrhagia	359948	IRF2BP2	ORPHA:520
HP:0100608	Metrorrhagia	81608	FIP1L1	ORPHA:520
HP:0100608	Metrorrhagia	4869	NPM1	ORPHA:520
HP:0100608	Metrorrhagia	5573	PRKAR1A	ORPHA:520
HP:0100608	Metrorrhagia	54880	BCOR	ORPHA:520
HP:0100608	Metrorrhagia	64859	NABP1	ORPHA:520
HP:0100608	Metrorrhagia	6777	STAT5B	ORPHA:520
HP:0100608	Metrorrhagia	4926	NUMA1	ORPHA:520
HP:0100608	Metrorrhagia	7704	ZBTB16	ORPHA:520
HP:0100608	Metrorrhagia	79718	TBL1XR1	ORPHA:520
HP:0100608	Metrorrhagia	11234	HPS5	OMIM:614074
HP:0100608	Metrorrhagia	2313	FLI1	ORPHA:370348
HP:0100608	Metrorrhagia	2153	F5	ORPHA:326
HP:0000132	Menorrhagia	3690	ITGB3	OMIM:619271
HP:0000132	Menorrhagia	3690	ITGB3	ORPHA:849
HP:0000132	Menorrhagia	3690	ITGB3	OMIM:619267
HP:0000132	Menorrhagia	3674	ITGA2B	OMIM:273800
HP:0000132	Menorrhagia	3674	ITGA2B	ORPHA:849
HP:0000132	Menorrhagia	2157	F8	ORPHA:177926
HP:0000132	Menorrhagia	2157	F8	ORPHA:169802
HP:0000132	Menorrhagia	2811	GP1BA	OMIM:153670
HP:0000132	Menorrhagia	2811	GP1BA	ORPHA:274
HP:0000132	Menorrhagia	2811	GP1BA	OMIM:231200
HP:0000132	Menorrhagia	2812	GP1BB	ORPHA:274
HP:0000132	Menorrhagia	2812	GP1BB	OMIM:231200
HP:0000132	Menorrhagia	2815	GP9	ORPHA:274
HP:0000132	Menorrhagia	2815	GP9	OMIM:231200
HP:0000132	Menorrhagia	7450	VWF	OMIM:193400
HP:0000132	Menorrhagia	7450	VWF	OMIM:613554
HP:0000132	Menorrhagia	7450	VWF	OMIM:277480
HP:0000132	Menorrhagia	2155	F7	OMIM:227500
HP:0000132	Menorrhagia	2155	F7	ORPHA:327
HP:0000132	Menorrhagia	5618	PRLR	OMIM:615555
HP:0000132	Menorrhagia	5618	PRLR	ORPHA:397685
HP:0000132	Menorrhagia	5054	SERPINE1	ORPHA:465
HP:0000132	Menorrhagia	5054	SERPINE1	OMIM:613329
HP:0000132	Menorrhagia	89781	HPS4	OMIM:614073
HP:0000132	Menorrhagia	11234	HPS5	OMIM:614074
HP:0000132	Menorrhagia	388552	BLOC1S3	OMIM:614077
HP:0000132	Menorrhagia	3998	LMAN1	ORPHA:35909
HP:0000132	Menorrhagia	90411	MCFD2	ORPHA:35909
HP:0000132	Menorrhagia	90411	MCFD2	OMIM:613625
HP:0000132	Menorrhagia	84062	DTNBP1	OMIM:614076
HP:0000132	Menorrhagia	5568	PRKACG	OMIM:616176
HP:0000132	Menorrhagia	10235	RASGRP2	OMIM:615888
HP:0000132	Menorrhagia	2542	SLC37A4	ORPHA:79259
HP:0000132	Menorrhagia	23218	NBEAL2	OMIM:139090
HP:0000132	Menorrhagia	2165	F13B	ORPHA:331
HP:0000132	Menorrhagia	2162	F13A1	ORPHA:331
HP:0000132	Menorrhagia	63915	BLOC1S5	OMIM:619172
HP:0000132	Menorrhagia	2159	F10	OMIM:227600
HP:0000132	Menorrhagia	2159	F10	ORPHA:328
HP:0000132	Menorrhagia	2153	F5	OMIM:227400
HP:0000132	Menorrhagia	2153	F5	ORPHA:326
HP:0000132	Menorrhagia	51206	GP6	OMIM:614201
HP:0000132	Menorrhagia	2147	F2	OMIM:613679
HP:0000132	Menorrhagia	2147	F2	ORPHA:325
HP:0000132	Menorrhagia	2160	F11	ORPHA:329
HP:0000132	Menorrhagia	4627	MYH9	OMIM:155100
HP:0000132	Menorrhagia	4627	MYH9	ORPHA:182050
HP:0000132	Menorrhagia	2313	FLI1	OMIM:617443
HP:0000132	Menorrhagia	5328	PLAU	OMIM:601709
HP:0000132	Menorrhagia	342618	SLFN14	OMIM:616913
HP:0000132	Menorrhagia	1729	DIAPH1	OMIM:124900
HP:0005656	Positional foot deformity	9853	RUSC2	OMIM:617773
HP:0005656	Positional foot deformity	4010	LMX1B	ORPHA:2614
HP:0005656	Positional foot deformity	4010	LMX1B	ORPHA:495818
HP:0005656	Positional foot deformity	4010	LMX1B	OMIM:161200
HP:0005656	Positional foot deformity	3008	H1-4	OMIM:617537
HP:0005656	Positional foot deformity	84942	WDR73	OMIM:251300
HP:0005656	Positional foot deformity	1131	CHRM3	ORPHA:2970
HP:0005656	Positional foot deformity	1131	CHRM3	OMIM:100100
HP:0005656	Positional foot deformity	5830	PEX5	OMIM:214110
HP:0005656	Positional foot deformity	5830	PEX5	OMIM:616716
HP:0005656	Positional foot deformity	4487	MSX1	ORPHA:199302
HP:0005656	Positional foot deformity	5818	NECTIN1	ORPHA:199302
HP:0005656	Positional foot deformity	8626	TP63	ORPHA:199302
HP:0005656	Positional foot deformity	3664	IRF6	ORPHA:199302
HP:0005656	Positional foot deformity	3664	IRF6	OMIM:119500
HP:0005656	Positional foot deformity	3190	HNRNPK	ORPHA:453504
HP:0005656	Positional foot deformity	3190	HNRNPK	ORPHA:352665
HP:0005656	Positional foot deformity	6662	SOX9	ORPHA:140
HP:0005656	Positional foot deformity	6662	SOX9	OMIM:114290
HP:0005656	Positional foot deformity	10743	RAI1	ORPHA:477817
HP:0005656	Positional foot deformity	54332	GDAP1	OMIM:607831
HP:0005656	Positional foot deformity	54332	GDAP1	ORPHA:101097
HP:0005656	Positional foot deformity	54332	GDAP1	OMIM:608340
HP:0005656	Positional foot deformity	56704	JPH1	OMIM:607831
HP:0005656	Positional foot deformity	6536	SLC6A9	OMIM:617301
HP:0005656	Positional foot deformity	64412	GZF1	OMIM:617662
HP:0005656	Positional foot deformity	51111	KMT5B	OMIM:617788
HP:0005656	Positional foot deformity	84466	MEGF10	OMIM:614399
HP:0005656	Positional foot deformity	2201	FBN2	OMIM:121050
HP:0005656	Positional foot deformity	3508	IGHMBP2	OMIM:604320
HP:0005656	Positional foot deformity	3508	IGHMBP2	OMIM:616155
HP:0005656	Positional foot deformity	81846	SBF2	OMIM:604563
HP:0005656	Positional foot deformity	79158	GNPTAB	OMIM:252500
HP:0005656	Positional foot deformity	79158	GNPTAB	ORPHA:576
HP:0005656	Positional foot deformity	57231	SNX14	ORPHA:397709
HP:0005656	Positional foot deformity	57231	SNX14	OMIM:616354
HP:0005656	Positional foot deformity	5189	PEX1	OMIM:214100
HP:0005656	Positional foot deformity	60561	RINT1	OMIM:618641
HP:0005656	Positional foot deformity	129685	TAF8	OMIM:619972
HP:0005656	Positional foot deformity	23321	TRIM2	OMIM:615490
HP:0005656	Positional foot deformity	9469	CHST3	OMIM:143095
HP:0005656	Positional foot deformity	9469	CHST3	OMIM:245600
HP:0005656	Positional foot deformity	10606	PAICS	OMIM:619859
HP:0005656	Positional foot deformity	3339	HSPG2	ORPHA:1865
HP:0005656	Positional foot deformity	3339	HSPG2	OMIM:255800
HP:0005656	Positional foot deformity	3339	HSPG2	OMIM:224410
HP:0005656	Positional foot deformity	3339	HSPG2	ORPHA:800
HP:0005656	Positional foot deformity	1277	COL1A1	ORPHA:287
HP:0005656	Positional foot deformity	1289	COL5A1	ORPHA:287
HP:0005656	Positional foot deformity	1290	COL5A2	ORPHA:287
HP:0005656	Positional foot deformity	1290	COL5A2	OMIM:130010
HP:0005656	Positional foot deformity	1281	COL3A1	ORPHA:286
HP:0005656	Positional foot deformity	1281	COL3A1	OMIM:618343
HP:0005656	Positional foot deformity	1281	COL3A1	OMIM:130050
HP:0005656	Positional foot deformity	10815	CPLX1	ORPHA:280
HP:0005656	Positional foot deformity	10815	CPLX1	OMIM:194190
HP:0005656	Positional foot deformity	54872	PIGG	ORPHA:280
HP:0005656	Positional foot deformity	7469	NELFA	ORPHA:280
HP:0005656	Positional foot deformity	1487	CTBP1	ORPHA:280
HP:0005656	Positional foot deformity	1487	CTBP1	OMIM:194190
HP:0005656	Positional foot deformity	3954	LETM1	ORPHA:280
HP:0005656	Positional foot deformity	3954	LETM1	OMIM:194190
HP:0005656	Positional foot deformity	7468	NSD2	ORPHA:280
HP:0005656	Positional foot deformity	7468	NSD2	OMIM:194190
HP:0005656	Positional foot deformity	22872	SEC31A	OMIM:618651
HP:0005656	Positional foot deformity	57498	KIDINS220	OMIM:619501
HP:0005656	Positional foot deformity	5442	POLRMT	OMIM:619743
HP:0005656	Positional foot deformity	23327	NEDD4L	OMIM:617201
HP:0005656	Positional foot deformity	8642	DCHS1	OMIM:601390
HP:0005656	Positional foot deformity	8642	DCHS1	ORPHA:314679
HP:0005656	Positional foot deformity	26040	SETBP1	OMIM:269150
HP:0005656	Positional foot deformity	8241	RBM10	OMIM:311900
HP:0005656	Positional foot deformity	8241	RBM10	ORPHA:2886
HP:0005656	Positional foot deformity	9935	MAFB	ORPHA:233
HP:0005656	Positional foot deformity	1123	CHN1	ORPHA:233
HP:0005656	Positional foot deformity	59341	TRPV4	OMIM:600175
HP:0005656	Positional foot deformity	59341	TRPV4	OMIM:181405
HP:0005656	Positional foot deformity	79659	DYNC2H1	OMIM:613091
HP:0005656	Positional foot deformity	11285	B4GALT7	OMIM:130070
HP:0005656	Positional foot deformity	3572	IL6ST	OMIM:619752
HP:0005656	Positional foot deformity	10717	AP4B1	OMIM:614066
HP:0005656	Positional foot deformity	91574	MTRFR	OMIM:615035
HP:0005656	Positional foot deformity	91574	MTRFR	ORPHA:320375
HP:0005656	Positional foot deformity	11154	AP4S1	OMIM:614067
HP:0005656	Positional foot deformity	7862	BRPF1	OMIM:617333
HP:0005656	Positional foot deformity	55773	TBC1D23	OMIM:617695
HP:0005656	Positional foot deformity	51633	OTUD6B	OMIM:617452
HP:0005656	Positional foot deformity	51633	OTUD6B	ORPHA:505237
HP:0005656	Positional foot deformity	84665	MYPN	OMIM:617336
HP:0005656	Positional foot deformity	286	ANK1	ORPHA:251066
HP:0005656	Positional foot deformity	145258	GSC	OMIM:602471
HP:0005656	Positional foot deformity	8898	MTMR2	OMIM:601382
HP:0005656	Positional foot deformity	79796	ALG9	ORPHA:79328
HP:0005656	Positional foot deformity	8314	BAP1	OMIM:619762
HP:0005656	Positional foot deformity	163175	LGI4	OMIM:617468
HP:0005656	Positional foot deformity	6901	TAFAZZIN	OMIM:302060
HP:0005656	Positional foot deformity	79633	FAT4	ORPHA:314679
HP:0005656	Positional foot deformity	79633	FAT4	OMIM:615546
HP:0005656	Positional foot deformity	57688	ZSWIM6	OMIM:603671
HP:0005656	Positional foot deformity	57688	ZSWIM6	ORPHA:1827
HP:0005656	Positional foot deformity	57688	ZSWIM6	OMIM:617865
HP:0005656	Positional foot deformity	124583	CANT1	OMIM:251450
HP:0005656	Positional foot deformity	4626	MYH8	OMIM:158300
HP:0005656	Positional foot deformity	23299	BICD2	OMIM:615290
HP:0005656	Positional foot deformity	23299	BICD2	OMIM:618291
HP:0005656	Positional foot deformity	7030	TFE3	OMIM:301066
HP:0005656	Positional foot deformity	2239	GPC4	ORPHA:373
HP:0005656	Positional foot deformity	2239	GPC4	OMIM:312870
HP:0005656	Positional foot deformity	2719	GPC3	ORPHA:373
HP:0005656	Positional foot deformity	2719	GPC3	OMIM:312870
HP:0005656	Positional foot deformity	51651	PTRH2	OMIM:616263
HP:0005656	Positional foot deformity	339855	KY	OMIM:617114
HP:0005656	Positional foot deformity	339855	KY	ORPHA:496689
HP:0005656	Positional foot deformity	23483	TGDS	OMIM:616145
HP:0005656	Positional foot deformity	2006	ELN	ORPHA:90348
HP:0005656	Positional foot deformity	10516	FBLN5	ORPHA:90348
HP:0005656	Positional foot deformity	5832	ALDH18A1	ORPHA:90348
HP:0005656	Positional foot deformity	5832	ALDH18A1	OMIM:219150
HP:0005656	Positional foot deformity	5832	ALDH18A1	OMIM:616603
HP:0005656	Positional foot deformity	79087	ALG12	ORPHA:79324
HP:0005656	Positional foot deformity	79087	ALG12	OMIM:607143
HP:0005656	Positional foot deformity	79053	ALG8	ORPHA:79325
HP:0005656	Positional foot deformity	79053	ALG8	OMIM:608104
HP:0005656	Positional foot deformity	79628	SH3TC2	OMIM:601596
HP:0005656	Positional foot deformity	10195	ALG3	OMIM:601110
HP:0005656	Positional foot deformity	1917	EEF1A2	OMIM:616393
HP:0005656	Positional foot deformity	58497	PRUNE1	OMIM:617481
HP:0005656	Positional foot deformity	9427	ECEL1	OMIM:615065
HP:0005656	Positional foot deformity	7046	TGFBR1	OMIM:609192
HP:0005656	Positional foot deformity	1674	DES	OMIM:181400
HP:0005656	Positional foot deformity	389827	MYMK	OMIM:254940
HP:0005656	Positional foot deformity	389827	MYMK	ORPHA:1358
HP:0005656	Positional foot deformity	2879	GPX4	OMIM:250220
HP:0005656	Positional foot deformity	9488	PIGB	OMIM:618580
HP:0005656	Positional foot deformity	1291	COL6A1	OMIM:254090
HP:0005656	Positional foot deformity	1292	COL6A2	OMIM:254090
HP:0005656	Positional foot deformity	1293	COL6A3	OMIM:254090
HP:0005656	Positional foot deformity	5351	PLOD1	OMIM:225400
HP:0005656	Positional foot deformity	5351	PLOD1	ORPHA:1900
HP:0005656	Positional foot deformity	160418	TMTC3	OMIM:617255
HP:0005656	Positional foot deformity	6885	MAP3K7	OMIM:617137
HP:0005656	Positional foot deformity	23314	SATB2	ORPHA:251028
HP:0005656	Positional foot deformity	23314	SATB2	ORPHA:251019
HP:0005656	Positional foot deformity	23314	SATB2	OMIM:612313
HP:0005656	Positional foot deformity	9256	TSPOAP1	ORPHA:101150
HP:0005656	Positional foot deformity	7054	TH	ORPHA:101150
HP:0005656	Positional foot deformity	10733	PLK4	OMIM:616171
HP:0005656	Positional foot deformity	7707	ZNF148	OMIM:617260
HP:0005656	Positional foot deformity	91754	NEK9	OMIM:617022
HP:0005656	Positional foot deformity	117581	TWIST2	OMIM:200110
HP:0005656	Positional foot deformity	117581	TWIST2	OMIM:209885
HP:0005656	Positional foot deformity	9179	AP4M1	OMIM:612936
HP:0005656	Positional foot deformity	1491	CTH	ORPHA:212
HP:0005656	Positional foot deformity	5980	REV3L	ORPHA:570
HP:0005656	Positional foot deformity	23129	PLXND1	ORPHA:570
HP:0005656	Positional foot deformity	3039	HBA1	ORPHA:98791
HP:0005656	Positional foot deformity	3040	HBA2	ORPHA:98791
HP:0005656	Positional foot deformity	4998	ORC1	OMIM:224690
HP:0005656	Positional foot deformity	23345	SYNE1	OMIM:618484
HP:0005656	Positional foot deformity	64856	VWA1	OMIM:619216
HP:0005656	Positional foot deformity	1312	COMT	ORPHA:567
HP:0005656	Positional foot deformity	221037	JMJD1C	ORPHA:567
HP:0005656	Positional foot deformity	2812	GP1BB	ORPHA:567
HP:0005656	Positional foot deformity	6239	RREB1	ORPHA:567
HP:0005656	Positional foot deformity	7290	HIRA	ORPHA:567
HP:0005656	Positional foot deformity	9632	SEC24C	ORPHA:567
HP:0005656	Positional foot deformity	7353	UFD1	ORPHA:567
HP:0005656	Positional foot deformity	421	ARVCF	ORPHA:567
HP:0005656	Positional foot deformity	4547	MTTP	ORPHA:14
HP:0005656	Positional foot deformity	2064	ERBB2	OMIM:619465
HP:0005656	Positional foot deformity	84896	ATAD1	OMIM:618011
HP:0005656	Positional foot deformity	51715	RAB23	ORPHA:65759
HP:0005656	Positional foot deformity	1954	MEGF8	ORPHA:65759
HP:0005656	Positional foot deformity	1954	MEGF8	OMIM:614976
HP:0005656	Positional foot deformity	9244	CRLF1	OMIM:272430
HP:0005656	Positional foot deformity	23594	ORC6	OMIM:613803
HP:0005656	Positional foot deformity	84265	POLR3GL	OMIM:619234
HP:0005656	Positional foot deformity	80347	COASY	OMIM:618266
HP:0005656	Positional foot deformity	54809	SAMD9	OMIM:617053
HP:0005656	Positional foot deformity	57003	CCDC47	OMIM:618268
HP:0005656	Positional foot deformity	10526	IPO8	OMIM:619472
HP:0005656	Positional foot deformity	29895	MYL11	OMIM:619110
HP:0005656	Positional foot deformity	6711	SPTBN1	OMIM:619475
HP:0005656	Positional foot deformity	1387	CREBBP	OMIM:180849
HP:0005656	Positional foot deformity	2033	EP300	OMIM:180849
HP:0005656	Positional foot deformity	246329	STAC3	ORPHA:168572
HP:0005656	Positional foot deformity	25839	COG4	OMIM:618150
HP:0005656	Positional foot deformity	25839	COG4	ORPHA:85172
HP:0005656	Positional foot deformity	113189	CHST14	OMIM:601776
HP:0005656	Positional foot deformity	2571	GAD1	OMIM:619124
HP:0005656	Positional foot deformity	285590	SH3PXD2B	OMIM:249420
HP:0005656	Positional foot deformity	374879	ZNF699	OMIM:619488
HP:0005656	Positional foot deformity	57477	SHROOM4	ORPHA:85288
HP:0005656	Positional foot deformity	64093	SMOC1	OMIM:206920
HP:0005656	Positional foot deformity	64093	SMOC1	ORPHA:1106
HP:0005656	Positional foot deformity	50485	SMARCAL1	OMIM:242900
HP:0005656	Positional foot deformity	126792	B3GALT6	OMIM:271640
HP:0005656	Positional foot deformity	126792	B3GALT6	ORPHA:93359
HP:0005656	Positional foot deformity	126792	B3GALT6	ORPHA:536467
HP:0005656	Positional foot deformity	126792	B3GALT6	OMIM:615349
HP:0005656	Positional foot deformity	80267	EDEM3	OMIM:619493
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:256050
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:226900
HP:0005656	Positional foot deformity	1836	SLC26A2	ORPHA:93298
HP:0005656	Positional foot deformity	1836	SLC26A2	ORPHA:93307
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:222600
HP:0005656	Positional foot deformity	8242	KDM5C	ORPHA:85279
HP:0005656	Positional foot deformity	8242	KDM5C	OMIM:300534
HP:0005656	Positional foot deformity	2733	GLE1	OMIM:611890
HP:0005656	Positional foot deformity	26276	VPS33B	OMIM:620009
HP:0005656	Positional foot deformity	60386	SLC25A19	OMIM:613710
HP:0005656	Positional foot deformity	1968	EIF2S3	ORPHA:85282
HP:0005656	Positional foot deformity	3295	HSD17B4	OMIM:261515
HP:0005656	Positional foot deformity	3295	HSD17B4	OMIM:233400
HP:0005656	Positional foot deformity	219844	HYLS1	OMIM:236680
HP:0005656	Positional foot deformity	8139	GAN	ORPHA:643
HP:0005656	Positional foot deformity	8139	GAN	OMIM:256850
HP:0005656	Positional foot deformity	6913	TBX15	OMIM:260660
HP:0005656	Positional foot deformity	9927	MFN2	OMIM:617087
HP:0005656	Positional foot deformity	8516	ITGA8	OMIM:191830
HP:0005656	Positional foot deformity	25793	FBXO7	OMIM:260300
HP:0005656	Positional foot deformity	25793	FBXO7	ORPHA:171695
HP:0005656	Positional foot deformity	4233	MET	OMIM:620019
HP:0005656	Positional foot deformity	7042	TGFB2	OMIM:614816
HP:0005656	Positional foot deformity	65055	REEP1	OMIM:620011
HP:0005656	Positional foot deformity	168667	BMPER	OMIM:608022
HP:0005656	Positional foot deformity	2643	GCH1	OMIM:128230
HP:0005656	Positional foot deformity	2643	GCH1	ORPHA:98808
HP:0005656	Positional foot deformity	199857	ALG14	OMIM:619036
HP:0005656	Positional foot deformity	10262	SF3B4	OMIM:154400
HP:0005656	Positional foot deformity	10262	SF3B4	ORPHA:1788
HP:0005656	Positional foot deformity	7355	SLC35A2	ORPHA:356961
HP:0005656	Positional foot deformity	775	CACNA1C	OMIM:620029
HP:0005656	Positional foot deformity	8854	ALDH1A2	OMIM:620025
HP:0005656	Positional foot deformity	81839	VANGL1	ORPHA:3027
HP:0005656	Positional foot deformity	80199	FUZ	ORPHA:3027
HP:0005656	Positional foot deformity	5352	PLOD2	OMIM:609220
HP:0005656	Positional foot deformity	5352	PLOD2	ORPHA:2771
HP:0005656	Positional foot deformity	64324	NSD1	ORPHA:821
HP:0005656	Positional foot deformity	64324	NSD1	ORPHA:3447
HP:0005656	Positional foot deformity	29072	SETD2	ORPHA:821
HP:0005656	Positional foot deformity	10297	APC2	ORPHA:821
HP:0005656	Positional foot deformity	9401	RECQL4	OMIM:268400
HP:0005656	Positional foot deformity	9496	TBX4	ORPHA:238578
HP:0005656	Positional foot deformity	57222	ERGIC1	OMIM:208100
HP:0005656	Positional foot deformity	4649	MYO9A	OMIM:618198
HP:0005656	Positional foot deformity	6812	STXBP1	ORPHA:495818
HP:0005656	Positional foot deformity	22858	CILK1	OMIM:612651
HP:0005656	Positional foot deformity	55788	LMBRD1	OMIM:277380
HP:0005656	Positional foot deformity	23431	AP4E1	OMIM:613744
HP:0005656	Positional foot deformity	25782	RAB3GAP2	OMIM:212720
HP:0005656	Positional foot deformity	9382	COG1	OMIM:611209
HP:0005656	Positional foot deformity	9382	COG1	ORPHA:263508
HP:0005656	Positional foot deformity	3549	IHH	ORPHA:93388
HP:0005656	Positional foot deformity	8200	GDF5	ORPHA:93388
HP:0005656	Positional foot deformity	8200	GDF5	OMIM:610017
HP:0005656	Positional foot deformity	8200	GDF5	OMIM:113100
HP:0005656	Positional foot deformity	658	BMPR1B	ORPHA:93388
HP:0005656	Positional foot deformity	658	BMPR1B	OMIM:609441
HP:0005656	Positional foot deformity	6595	SMARCA2	OMIM:619293
HP:0005656	Positional foot deformity	1146	CHRNG	OMIM:265000
HP:0005656	Positional foot deformity	274	BIN1	OMIM:255200
HP:0005656	Positional foot deformity	274	BIN1	ORPHA:169186
HP:0005656	Positional foot deformity	5119	CHMP1A	OMIM:614961
HP:0005656	Positional foot deformity	23522	KAT6B	OMIM:606170
HP:0005656	Positional foot deformity	23522	KAT6B	ORPHA:85201
HP:0005656	Positional foot deformity	118813	ZFYVE27	OMIM:610244
HP:0005656	Positional foot deformity	546	ATRX	ORPHA:847
HP:0005656	Positional foot deformity	546	ATRX	OMIM:309580
HP:0005656	Positional foot deformity	546	ATRX	OMIM:301040
HP:0005656	Positional foot deformity	57190	SELENON	ORPHA:2020
HP:0005656	Positional foot deformity	58	ACTA1	ORPHA:2020
HP:0005656	Positional foot deformity	4633	MYL2	ORPHA:2020
HP:0005656	Positional foot deformity	3679	ITGA7	ORPHA:2020
HP:0005656	Positional foot deformity	9200	HACD1	ORPHA:2020
HP:0005656	Positional foot deformity	7170	TPM3	ORPHA:2020
HP:0005656	Positional foot deformity	51776	MAP3K20	ORPHA:2020
HP:0005656	Positional foot deformity	10682	EBP	ORPHA:35173
HP:0005656	Positional foot deformity	79813	EHMT1	OMIM:610253
HP:0005656	Positional foot deformity	23545	ATP6V0A2	OMIM:278250
HP:0005656	Positional foot deformity	2218	FKTN	OMIM:611588
HP:0005656	Positional foot deformity	53834	FGFRL1	OMIM:194190
HP:0005656	Positional foot deformity	3265	HRAS	OMIM:218040
HP:0005656	Positional foot deformity	121512	FGD4	OMIM:609311
HP:0005656	Positional foot deformity	5376	PMP22	ORPHA:3115
HP:0005656	Positional foot deformity	4359	MPZ	ORPHA:3115
HP:0005656	Positional foot deformity	4593	MUSK	OMIM:208150
HP:0005656	Positional foot deformity	5828	PEX2	OMIM:614866
HP:0005656	Positional foot deformity	79753	SNIP1	OMIM:614501
HP:0005656	Positional foot deformity	54499	TMCO1	OMIM:213980
HP:0005656	Positional foot deformity	11128	POLR3A	OMIM:264090
HP:0005656	Positional foot deformity	55165	CEP55	OMIM:236500
HP:0005656	Positional foot deformity	1303	COL12A1	ORPHA:536516
HP:0005656	Positional foot deformity	55670	PEX26	OMIM:614872
HP:0005656	Positional foot deformity	7443	VRK1	OMIM:607596
HP:0005656	Positional foot deformity	3911	LAMA5	OMIM:620076
HP:0005656	Positional foot deformity	9101	USP8	ORPHA:401795
HP:0005656	Positional foot deformity	2121	EVC	OMIM:225500
HP:0005656	Positional foot deformity	132884	EVC2	OMIM:225500
HP:0005656	Positional foot deformity	4088	SMAD3	OMIM:613795
HP:0005656	Positional foot deformity	6611	SMS	OMIM:309583
HP:0005656	Positional foot deformity	2146	EZH2	OMIM:277590
HP:0005656	Positional foot deformity	2146	EZH2	ORPHA:3447
HP:0005656	Positional foot deformity	7048	TGFBR2	OMIM:610168
HP:0005656	Positional foot deformity	55679	LIMS2	OMIM:616827
HP:0005656	Positional foot deformity	147372	CCBE1	OMIM:235510
HP:0005656	Positional foot deformity	3098	HK1	ORPHA:99953
HP:0005656	Positional foot deformity	8726	EED	ORPHA:3447
HP:0005656	Positional foot deformity	23512	SUZ12	ORPHA:3447
HP:0005656	Positional foot deformity	9775	EIF4A3	OMIM:268305
HP:0005656	Positional foot deformity	6622	SNCA	ORPHA:171695
HP:0005656	Positional foot deformity	667	DST	OMIM:614653
HP:0005656	Positional foot deformity	2316	FLNA	OMIM:309350
HP:0005656	Positional foot deformity	57410	SCYL1	OMIM:616719
HP:0005656	Positional foot deformity	57410	SCYL1	ORPHA:466794
HP:0005656	Positional foot deformity	3315	HSPB1	ORPHA:99940
HP:0005656	Positional foot deformity	10290	SPEG	ORPHA:169186
HP:0005656	Positional foot deformity	7273	TTN	ORPHA:169186
HP:0005656	Positional foot deformity	55906	ZC4H2	OMIM:301041
HP:0005656	Positional foot deformity	55906	ZC4H2	OMIM:314580
HP:0005656	Positional foot deformity	9158	FIBP	ORPHA:500095
HP:0005656	Positional foot deformity	579	NKX3-2	OMIM:613330
HP:0005656	Positional foot deformity	2290	FOXG1	OMIM:613454
HP:0005656	Positional foot deformity	55593	OTUD5	OMIM:301056
HP:0005656	Positional foot deformity	9150	CTDP1	OMIM:604168
HP:0005656	Positional foot deformity	91179	SCARF2	OMIM:600920
HP:0005656	Positional foot deformity	113179	ADAT3	ORPHA:363528
HP:0005656	Positional foot deformity	84162	BLTP1	OMIM:617822
HP:0005656	Positional foot deformity	1278	COL1A2	OMIM:617821
HP:0005656	Positional foot deformity	55784	MCTP2	ORPHA:1596
HP:0005656	Positional foot deformity	55033	FKBP14	OMIM:614557
HP:0005656	Positional foot deformity	3897	L1CAM	OMIM:303350
HP:0005656	Positional foot deformity	54820	NDE1	OMIM:605013
HP:0005656	Positional foot deformity	2891	GRIA2	OMIM:618917
HP:0005656	Positional foot deformity	101929726	MYMX	ORPHA:1358
HP:0005656	Positional foot deformity	54808	DYM	OMIM:223800
HP:0005656	Positional foot deformity	64135	IFIH1	OMIM:182250
HP:0005656	Positional foot deformity	5530	PPP3CA	OMIM:617711
HP:0005656	Positional foot deformity	57211	ADGRG6	OMIM:616503
HP:0005656	Positional foot deformity	284086	NEK8	OMIM:615415
HP:0005656	Positional foot deformity	29940	DSE	OMIM:615539
HP:0005656	Positional foot deformity	84342	COG8	OMIM:611182
HP:0005656	Positional foot deformity	79576	NKAP	OMIM:301039
HP:0005656	Positional foot deformity	57449	PLEKHG5	OMIM:611067
HP:0005656	Positional foot deformity	57531	HACE1	OMIM:616756
HP:0005656	Positional foot deformity	9419	CRIPT	OMIM:615789
HP:0005656	Positional foot deformity	29980	DONSON	OMIM:251230
HP:0005656	Positional foot deformity	340075	ARSI	ORPHA:401815
HP:0005656	Positional foot deformity	4929	NR4A2	ORPHA:98808
HP:0005656	Positional foot deformity	3615	IMPDH2	ORPHA:98808
HP:0005656	Positional foot deformity	1861	TOR1A	OMIM:618947
HP:0005656	Positional foot deformity	23233	EXOC6B	ORPHA:93359
HP:0005656	Positional foot deformity	285175	UNC80	ORPHA:371364
HP:0005656	Positional foot deformity	54880	BCOR	OMIM:300166
HP:0005656	Positional foot deformity	5297	PI4KA	OMIM:616531
HP:0005656	Positional foot deformity	953	ENTPD1	OMIM:615683
HP:0005656	Positional foot deformity	10293	TRAIP	OMIM:616777
HP:0005656	Positional foot deformity	8292	COLQ	ORPHA:98915
HP:0005656	Positional foot deformity	3913	LAMB2	ORPHA:98915
HP:0005656	Positional foot deformity	54676	GTPBP2	OMIM:617988
HP:0005656	Positional foot deformity	113246	C12orf57	OMIM:218340
HP:0005656	Positional foot deformity	2273	FHL1	OMIM:300280
HP:0005656	Positional foot deformity	139285	AMER1	OMIM:300373
HP:0005656	Positional foot deformity	6497	SKI	OMIM:182212
HP:0005656	Positional foot deformity	9321	TRIP11	OMIM:200600
HP:0005656	Positional foot deformity	2990	GUSB	OMIM:253220
HP:0005656	Positional foot deformity	55191	NADSYN1	OMIM:618845
HP:0005656	Positional foot deformity	23389	MED13L	OMIM:616789
HP:0005656	Positional foot deformity	9939	RBM8A	OMIM:274000
HP:0005656	Positional foot deformity	1807	DPYS	OMIM:222748
HP:0005656	Positional foot deformity	26229	B3GAT3	OMIM:245600
HP:0005656	Positional foot deformity	5307	PITX1	OMIM:119800
HP:0005656	Positional foot deformity	22978	NT5C2	OMIM:613162
HP:0005656	Positional foot deformity	7043	TGFB3	OMIM:615582
HP:0005656	Positional foot deformity	523	ATP6V1A	OMIM:617403
HP:0005656	Positional foot deformity	547	KIF1A	OMIM:614255
HP:0005656	Positional foot deformity	529	ATP6V1E1	OMIM:617402
HP:0005656	Positional foot deformity	8449	DHX16	OMIM:618733
HP:0005656	Positional foot deformity	157570	ESCO2	OMIM:268300
HP:0005656	Positional foot deformity	8218	CLTCL1	ORPHA:453510
HP:0005656	Positional foot deformity	7920	ABHD16A	OMIM:619735
HP:0005656	Positional foot deformity	1182	CLCN3	OMIM:619512
HP:0005656	Positional foot deformity	84879	MFSD2A	OMIM:616486
HP:0005656	Positional foot deformity	8506	CNTNAP1	OMIM:618186
HP:0005656	Positional foot deformity	348180	CTU2	OMIM:618142
HP:0005656	Positional foot deformity	340419	RSPO2	OMIM:618022
HP:0005656	Positional foot deformity	92002	CCNQ	OMIM:300707
HP:0005656	Positional foot deformity	23040	MYT1L	OMIM:616521
HP:0005656	Positional foot deformity	80036	TRPM3	OMIM:620224
HP:0005656	Positional foot deformity	4125	MAN2B1	ORPHA:309282
HP:0005656	Positional foot deformity	6857	SYT1	ORPHA:522077
HP:0005656	Positional foot deformity	5594	MAPK1	OMIM:619087
HP:0005656	Positional foot deformity	10730	YME1L1	OMIM:617302
HP:0005656	Positional foot deformity	7291	TWIST1	OMIM:617746
HP:0005656	Positional foot deformity	23169	SLC35D1	OMIM:269250
HP:0005656	Positional foot deformity	7547	ZIC3	OMIM:306955
HP:0005656	Positional foot deformity	342035	GLDN	OMIM:617194
HP:0005656	Positional foot deformity	4123	MAN2C1	OMIM:619775
HP:0005656	Positional foot deformity	55120	FANCL	OMIM:614083
HP:0005656	Positional foot deformity	9487	PIGL	OMIM:280000
HP:0005656	Positional foot deformity	29968	PSAT1	ORPHA:284417
HP:0005656	Positional foot deformity	1496	CTNNA2	OMIM:618174
HP:0005656	Positional foot deformity	8985	PLOD3	OMIM:612394
HP:0005656	Positional foot deformity	2720	GLB1	OMIM:253010
HP:0005656	Positional foot deformity	7319	UBE2A	ORPHA:163956
HP:0005656	Positional foot deformity	6638	SNRPN	ORPHA:177907
HP:0005656	Positional foot deformity	9230	RAB11B	OMIM:617807
HP:0005656	Positional foot deformity	9949	AMMECR1	OMIM:300990
HP:0005656	Positional foot deformity	23476	BRD4	ORPHA:199
HP:0005656	Positional foot deformity	9126	SMC3	ORPHA:199
HP:0005656	Positional foot deformity	8243	SMC1A	ORPHA:199
HP:0005656	Positional foot deformity	8243	SMC1A	OMIM:301044
HP:0005656	Positional foot deformity	25836	NIPBL	ORPHA:199
HP:0005656	Positional foot deformity	55869	HDAC8	ORPHA:199
HP:0005656	Positional foot deformity	5885	RAD21	ORPHA:199
HP:0005656	Positional foot deformity	2737	GLI3	ORPHA:672
HP:0005656	Positional foot deformity	6309	SC5D	ORPHA:46059
HP:0005656	Positional foot deformity	285489	DOK7	OMIM:618389
HP:0005656	Positional foot deformity	64327	LMBR1	ORPHA:2378
HP:0005656	Positional foot deformity	1778	DYNC1H1	OMIM:614228
HP:0005656	Positional foot deformity	79770	TXNDC15	OMIM:619879
HP:0005656	Positional foot deformity	79770	TXNDC15	ORPHA:564
HP:0005656	Positional foot deformity	4703	NEB	OMIM:256030
HP:0005656	Positional foot deformity	2131	EXT1	ORPHA:502
HP:0005656	Positional foot deformity	7227	TRPS1	ORPHA:502
HP:0005656	Positional foot deformity	5447	POR	ORPHA:95699
HP:0005656	Positional foot deformity	6299	SALL1	OMIM:107480
HP:0005656	Positional foot deformity	1718	DHCR24	ORPHA:35107
HP:0005656	Positional foot deformity	23498	HAAO	OMIM:617660
HP:0005656	Positional foot deformity	6261	RYR1	OMIM:117000
HP:0005656	Positional foot deformity	55640	FLVCR2	OMIM:225790
HP:0005656	Positional foot deformity	8942	KYNU	OMIM:617661
HP:0005656	Positional foot deformity	54101	RIPK4	ORPHA:1234
HP:0005656	Positional foot deformity	9993	DGCR2	OMIM:192430
HP:0005656	Positional foot deformity	8220	ESS2	OMIM:192430
HP:0005656	Positional foot deformity	8214	DGCR6	OMIM:192430
HP:0005656	Positional foot deformity	54487	DGCR8	OMIM:192430
HP:0005656	Positional foot deformity	6899	TBX1	OMIM:192430
HP:0005656	Positional foot deformity	55636	CHD7	ORPHA:138
HP:0005656	Positional foot deformity	9723	SEMA3E	ORPHA:138
HP:0005656	Positional foot deformity	3516	RBPJ	ORPHA:974
HP:0005656	Positional foot deformity	4851	NOTCH1	ORPHA:974
HP:0005656	Positional foot deformity	57514	ARHGAP31	ORPHA:974
HP:0005656	Positional foot deformity	57572	DOCK6	ORPHA:974
HP:0005656	Positional foot deformity	285203	EOGT	ORPHA:974
HP:0005656	Positional foot deformity	54567	DLL4	ORPHA:974
HP:0005656	Positional foot deformity	63895	PIEZO2	ORPHA:376
HP:0005656	Positional foot deformity	63895	PIEZO2	ORPHA:2461
HP:0005656	Positional foot deformity	3930	LBR	OMIM:215140
HP:0005656	Positional foot deformity	4000	LMNA	ORPHA:157973
HP:0005656	Positional foot deformity	4000	LMNA	OMIM:613205
HP:0005656	Positional foot deformity	2200	FBN1	OMIM:154700
HP:0005656	Positional foot deformity	2068	ERCC2	ORPHA:1466
HP:0005656	Positional foot deformity	2067	ERCC1	ORPHA:1466
HP:0005656	Positional foot deformity	2074	ERCC6	ORPHA:1466
HP:0005656	Positional foot deformity	2073	ERCC5	ORPHA:1466
HP:0005656	Positional foot deformity	7140	TNNT3	ORPHA:1146
HP:0005656	Positional foot deformity	4621	MYH3	ORPHA:1146
HP:0005656	Positional foot deformity	7169	TPM2	ORPHA:1146
HP:0005656	Positional foot deformity	259232	NALCN	ORPHA:1146
HP:0005656	Positional foot deformity	7136	TNNI2	ORPHA:1146
HP:0005656	Positional foot deformity	4604	MYBPC1	ORPHA:1146
HP:0005656	Positional foot deformity	7476	WNT7A	ORPHA:2879
HP:0005656	Positional foot deformity	92344	GORAB	ORPHA:2078
HP:0005656	Positional foot deformity	5831	PYCR1	ORPHA:2078
HP:0005656	Positional foot deformity	9361	LONP1	ORPHA:79243
HP:0005656	Positional foot deformity	5160	PDHA1	ORPHA:79243
HP:0005656	Positional foot deformity	10225	CD96	ORPHA:1308
HP:0005656	Positional foot deformity	2317	FLNB	OMIM:108720
HP:0005656	Positional foot deformity	60681	FKBP10	ORPHA:1149
HP:0005656	Positional foot deformity	22827	PUF60	ORPHA:508488
HP:0005656	Positional foot deformity	84314	TMEM107	ORPHA:564
HP:0005656	Positional foot deformity	26123	TCTN3	ORPHA:564
HP:0005656	Positional foot deformity	79867	TCTN2	ORPHA:564
HP:0005656	Positional foot deformity	80776	B9D2	ORPHA:564
HP:0005656	Positional foot deformity	79600	TCTN1	ORPHA:564
HP:0005656	Positional foot deformity	57096	RPGRIP1	ORPHA:564
HP:0005656	Positional foot deformity	79848	CSPP1	ORPHA:564
HP:0005656	Positional foot deformity	80184	CEP290	ORPHA:564
HP:0005656	Positional foot deformity	51259	TMEM216	ORPHA:564
HP:0005656	Positional foot deformity	57545	CC2D2A	ORPHA:564
HP:0005656	Positional foot deformity	79583	TMEM231	ORPHA:564
HP:0005656	Positional foot deformity	91147	TMEM67	ORPHA:564
HP:0005656	Positional foot deformity	27077	B9D1	ORPHA:564
HP:0005656	Positional foot deformity	23322	RPGRIP1L	ORPHA:564
HP:0005656	Positional foot deformity	54903	MKS1	ORPHA:564
HP:0005656	Positional foot deformity	54903	MKS1	OMIM:249000
HP:0005656	Positional foot deformity	65062	TMEM237	ORPHA:564
HP:0005656	Positional foot deformity	1760	DMPK	ORPHA:589821
HP:0005656	Positional foot deformity	774	CACNA1B	OMIM:618497
HP:0005656	Positional foot deformity	3977	LIFR	OMIM:601559
HP:0005656	Positional foot deformity	2702	GJA5	OMIM:612474
HP:0005656	Positional foot deformity	2703	GJA8	OMIM:612474
HP:0005656	Positional foot deformity	545	ATR	OMIM:210600
HP:0005656	Positional foot deformity	57167	SALL4	ORPHA:959
HP:0005656	Positional foot deformity	2245	FGD1	ORPHA:915
HP:0005656	Positional foot deformity	2313	FLI1	ORPHA:2308
HP:0005656	Positional foot deformity	1280	COL2A1	ORPHA:1856
HP:0005656	Positional foot deformity	5728	PTEN	ORPHA:137608
HP:0005656	Positional foot deformity	1717	DHCR7	OMIM:270400
HP:0005656	Positional foot deformity	1717	DHCR7	ORPHA:818
HP:0005656	Positional foot deformity	63894	VIPAS39	OMIM:613404
HP:0005656	Positional foot deformity	4747	NEFL	ORPHA:99939
HP:0005656	Positional foot deformity	55780	ERMARD	ORPHA:75857
HP:0005656	Positional foot deformity	8398	PLA2G6	OMIM:610217
HP:0005656	Positional foot deformity	23384	SPECC1L	OMIM:600251
HP:0005656	Positional foot deformity	10397	NDRG1	OMIM:601455
HP:0005656	Positional foot deformity	6872	TAF1	OMIM:300966
HP:0005656	Positional foot deformity	4625	MYH7	ORPHA:59135
HP:0005656	Positional foot deformity	56997	COQ8A	ORPHA:139485
HP:0005656	Positional foot deformity	79152	FA2H	ORPHA:171629
HP:0005656	Positional foot deformity	10352	WARS2	ORPHA:572798
HP:0005656	Positional foot deformity	55210	ATAD3A	ORPHA:496790
HP:0005656	Positional foot deformity	284058	KANSL1	OMIM:610443
HP:0005656	Positional foot deformity	284058	KANSL1	ORPHA:363965
HP:0005656	Positional foot deformity	284058	KANSL1	ORPHA:363958
HP:0005656	Positional foot deformity	1737	DLAT	ORPHA:79244
HP:0005655	Multiple digital exostoses	5781	PTPN11	OMIM:156250
HP:0005659	Thoracic kyphoscoliosis	6660	SOX5	ORPHA:313892
HP:0005659	Thoracic kyphoscoliosis	7703	PCGF2	OMIM:618371
HP:0005659	Thoracic kyphoscoliosis	83932	SPRTN	OMIM:616200
HP:0005659	Thoracic kyphoscoliosis	579	NKX3-2	OMIM:613330
HP:0005659	Thoracic kyphoscoliosis	83737	ITCH	OMIM:613385
HP:0005659	Thoracic kyphoscoliosis	1674	DES	ORPHA:98909
HP:0005659	Thoracic kyphoscoliosis	4000	LMNA	ORPHA:1662
HP:0005659	Thoracic kyphoscoliosis	10269	ZMPSTE24	ORPHA:1662
HP:0005659	Thoracic kyphoscoliosis	55699	IARS2	ORPHA:436174
HP:0005659	Thoracic kyphoscoliosis	57211	ADGRG6	OMIM:616503
HP:0005659	Thoracic kyphoscoliosis	29920	PYCR2	ORPHA:481152
HP:0005659	Thoracic kyphoscoliosis	6329	SCN4A	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1134	CHRNA1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	4038	LRP4	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1305	COL13A1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1140	CHRNB1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1144	CHRND	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1145	CHRNE	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	4593	MUSK	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	5913	RAPSN	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	375790	AGRN	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	221264	AK9	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	285489	DOK7	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	5351	PLOD1	ORPHA:1900
HP:0031504	Foamy urine	4868	NPHS1	ORPHA:656
HP:0031504	Foamy urine	23607	CD2AP	ORPHA:656
HP:0031504	Foamy urine	9688	NUP93	ORPHA:656
HP:0031504	Foamy urine	4643	MYO1E	ORPHA:656
HP:0031504	Foamy urine	64423	INF2	ORPHA:656
HP:0031504	Foamy urine	26130	GAPVD1	ORPHA:656
HP:0031504	Foamy urine	7490	WT1	ORPHA:656
HP:0031504	Foamy urine	57122	NUP107	ORPHA:656
HP:0031504	Foamy urine	51479	ANKFY1	ORPHA:656
HP:0031504	Foamy urine	54443	ANLN	ORPHA:656
HP:0031504	Foamy urine	5800	PTPRO	ORPHA:656
HP:0031504	Foamy urine	286204	CRB2	ORPHA:656
HP:0031504	Foamy urine	23165	NUP205	ORPHA:656
HP:0031504	Foamy urine	2013	EMP2	ORPHA:656
HP:0031504	Foamy urine	79023	NUP37	ORPHA:656
HP:0031504	Foamy urine	51196	PLCE1	ORPHA:656
HP:0031504	Foamy urine	79902	NUP85	ORPHA:656
HP:0031504	Foamy urine	1285	COL4A3	ORPHA:656
HP:0031504	Foamy urine	396	ARHGDIA	ORPHA:656
HP:0031504	Foamy urine	79934	COQ8B	ORPHA:656
HP:0031504	Foamy urine	23279	NUP160	ORPHA:656
HP:0031504	Foamy urine	9863	MAGI2	ORPHA:656
HP:0031504	Foamy urine	81	ACTN4	ORPHA:656
HP:0031504	Foamy urine	7225	TRPC6	ORPHA:656
HP:0031504	Foamy urine	8542	APOL1	ORPHA:656
HP:0031504	Foamy urine	54885	TBC1D8B	ORPHA:656
HP:0031504	Foamy urine	7827	NPHS2	ORPHA:656
HP:0031504	Foamy urine	83478	ARHGAP24	ORPHA:656
HP:0031504	Foamy urine	23500	DAAM2	ORPHA:656
HP:0031504	Foamy urine	5076	PAX2	ORPHA:656
HP:0031504	Foamy urine	55746	NUP133	ORPHA:656
HP:0031505	Abnormal circulating T4 concentration	7253	TSHR	OMIM:609152
HP:0031505	Abnormal circulating T4 concentration	7253	TSHR	OMIM:603373
HP:0031505	Abnormal circulating T4 concentration	79048	SECISBP2	ORPHA:171706
HP:0031505	Abnormal circulating T4 concentration	79048	SECISBP2	OMIM:609698
HP:0031505	Abnormal circulating T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0031505	Abnormal circulating T4 concentration	7068	THRB	OMIM:274300
HP:0031505	Abnormal circulating T4 concentration	7840	ALMS1	ORPHA:64
HP:0031505	Abnormal circulating T4 concentration	7849	PAX8	OMIM:218700
HP:0031505	Abnormal circulating T4 concentration	6638	SNRPN	ORPHA:177904
HP:0031505	Abnormal circulating T4 concentration	6638	SNRPN	ORPHA:177901
HP:0031505	Abnormal circulating T4 concentration	6638	SNRPN	ORPHA:98754
HP:0031505	Abnormal circulating T4 concentration	4692	NDN	ORPHA:177904
HP:0031505	Abnormal circulating T4 concentration	4692	NDN	ORPHA:177901
HP:0031505	Abnormal circulating T4 concentration	4692	NDN	ORPHA:98754
HP:0031505	Abnormal circulating T4 concentration	54551	MAGEL2	ORPHA:177904
HP:0031505	Abnormal circulating T4 concentration	54551	MAGEL2	ORPHA:177901
HP:0031505	Abnormal circulating T4 concentration	54551	MAGEL2	ORPHA:98754
HP:0031505	Abnormal circulating T4 concentration	4948	OCA2	ORPHA:177904
HP:0031505	Abnormal circulating T4 concentration	4948	OCA2	ORPHA:177901
HP:0031505	Abnormal circulating T4 concentration	4948	OCA2	ORPHA:98754
HP:0031505	Abnormal circulating T4 concentration	7201	TRHR	OMIM:618573
HP:0031505	Abnormal circulating T4 concentration	7201	TRHR	ORPHA:99832
HP:0031505	Abnormal circulating T4 concentration	5626	PROP1	ORPHA:226307
HP:0031505	Abnormal circulating T4 concentration	89884	LHX4	ORPHA:226307
HP:0031505	Abnormal circulating T4 concentration	8022	LHX3	ORPHA:226307
HP:0031505	Abnormal circulating T4 concentration	5449	POU1F1	ORPHA:226307
HP:0031505	Abnormal circulating T4 concentration	8820	HESX1	ORPHA:226307
HP:0031505	Abnormal circulating T4 concentration	405753	DUOXA2	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	6528	SLC5A5	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	7038	TG	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	7173	TPO	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	7173	TPO	OMIM:274500
HP:0031505	Abnormal circulating T4 concentration	389434	IYD	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	50506	DUOX2	ORPHA:95716
HP:0031505	Abnormal circulating T4 concentration	50506	DUOX2	ORPHA:226316
HP:0031505	Abnormal circulating T4 concentration	169792	GLIS3	OMIM:610199
HP:0031505	Abnormal circulating T4 concentration	79053	ALG8	OMIM:608104
HP:0031505	Abnormal circulating T4 concentration	7252	TSHB	OMIM:275100
HP:0031505	Abnormal circulating T4 concentration	7252	TSHB	ORPHA:90674
HP:0031506	Increased circulating T4 concentration	7253	TSHR	OMIM:609152
HP:0031506	Increased circulating T4 concentration	7253	TSHR	OMIM:603373
HP:0031506	Increased circulating T4 concentration	79048	SECISBP2	ORPHA:171706
HP:0031506	Increased circulating T4 concentration	79048	SECISBP2	OMIM:609698
HP:0031506	Increased circulating T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0031506	Increased circulating T4 concentration	7068	THRB	OMIM:274300
HP:0031507	Decreased circulating T4 concentration	7840	ALMS1	ORPHA:64
HP:0031507	Decreased circulating T4 concentration	7849	PAX8	OMIM:218700
HP:0031507	Decreased circulating T4 concentration	6638	SNRPN	ORPHA:177904
HP:0031507	Decreased circulating T4 concentration	6638	SNRPN	ORPHA:177901
HP:0031507	Decreased circulating T4 concentration	6638	SNRPN	ORPHA:98754
HP:0031507	Decreased circulating T4 concentration	4692	NDN	ORPHA:177904
HP:0031507	Decreased circulating T4 concentration	4692	NDN	ORPHA:177901
HP:0031507	Decreased circulating T4 concentration	4692	NDN	ORPHA:98754
HP:0031507	Decreased circulating T4 concentration	54551	MAGEL2	ORPHA:177904
HP:0031507	Decreased circulating T4 concentration	54551	MAGEL2	ORPHA:177901
HP:0031507	Decreased circulating T4 concentration	54551	MAGEL2	ORPHA:98754
HP:0031507	Decreased circulating T4 concentration	4948	OCA2	ORPHA:177904
HP:0031507	Decreased circulating T4 concentration	4948	OCA2	ORPHA:177901
HP:0031507	Decreased circulating T4 concentration	4948	OCA2	ORPHA:98754
HP:0031507	Decreased circulating T4 concentration	7201	TRHR	OMIM:618573
HP:0031507	Decreased circulating T4 concentration	7201	TRHR	ORPHA:99832
HP:0031507	Decreased circulating T4 concentration	5626	PROP1	ORPHA:226307
HP:0031507	Decreased circulating T4 concentration	89884	LHX4	ORPHA:226307
HP:0031507	Decreased circulating T4 concentration	8022	LHX3	ORPHA:226307
HP:0031507	Decreased circulating T4 concentration	5449	POU1F1	ORPHA:226307
HP:0031507	Decreased circulating T4 concentration	8820	HESX1	ORPHA:226307
HP:0031507	Decreased circulating T4 concentration	405753	DUOXA2	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	6528	SLC5A5	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	7038	TG	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	7173	TPO	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	7173	TPO	OMIM:274500
HP:0031507	Decreased circulating T4 concentration	389434	IYD	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	50506	DUOX2	ORPHA:95716
HP:0031507	Decreased circulating T4 concentration	50506	DUOX2	ORPHA:226316
HP:0031507	Decreased circulating T4 concentration	169792	GLIS3	OMIM:610199
HP:0031507	Decreased circulating T4 concentration	79053	ALG8	OMIM:608104
HP:0031507	Decreased circulating T4 concentration	7252	TSHB	OMIM:275100
HP:0031507	Decreased circulating T4 concentration	7252	TSHB	ORPHA:90674
HP:0031507	Decreased circulating T4 concentration	7253	TSHR	ORPHA:90673
HP:0031508	Abnormal circulating thyroid hormone concentration	7067	THRA	OMIM:614450
HP:0031508	Abnormal circulating thyroid hormone concentration	7253	TSHR	OMIM:609152
HP:0031508	Abnormal circulating thyroid hormone concentration	7253	TSHR	OMIM:603373
HP:0031508	Abnormal circulating thyroid hormone concentration	79048	SECISBP2	ORPHA:171706
HP:0031508	Abnormal circulating thyroid hormone concentration	79048	SECISBP2	OMIM:609698
HP:0031508	Abnormal circulating thyroid hormone concentration	100134444	KCNJ18	OMIM:613239
HP:0031508	Abnormal circulating thyroid hormone concentration	7068	THRB	OMIM:274300
HP:0031508	Abnormal circulating thyroid hormone concentration	7840	ALMS1	ORPHA:64
HP:0031508	Abnormal circulating thyroid hormone concentration	7849	PAX8	OMIM:218700
HP:0031508	Abnormal circulating thyroid hormone concentration	6638	SNRPN	ORPHA:177904
HP:0031508	Abnormal circulating thyroid hormone concentration	6638	SNRPN	ORPHA:177901
HP:0031508	Abnormal circulating thyroid hormone concentration	6638	SNRPN	ORPHA:98754
HP:0031508	Abnormal circulating thyroid hormone concentration	4692	NDN	ORPHA:177904
HP:0031508	Abnormal circulating thyroid hormone concentration	4692	NDN	ORPHA:177901
HP:0031508	Abnormal circulating thyroid hormone concentration	4692	NDN	ORPHA:98754
HP:0031508	Abnormal circulating thyroid hormone concentration	54551	MAGEL2	ORPHA:177904
HP:0031508	Abnormal circulating thyroid hormone concentration	54551	MAGEL2	ORPHA:177901
HP:0031508	Abnormal circulating thyroid hormone concentration	54551	MAGEL2	ORPHA:98754
HP:0031508	Abnormal circulating thyroid hormone concentration	4948	OCA2	ORPHA:177904
HP:0031508	Abnormal circulating thyroid hormone concentration	4948	OCA2	ORPHA:177901
HP:0031508	Abnormal circulating thyroid hormone concentration	4948	OCA2	ORPHA:98754
HP:0031508	Abnormal circulating thyroid hormone concentration	7201	TRHR	OMIM:618573
HP:0031508	Abnormal circulating thyroid hormone concentration	7201	TRHR	ORPHA:99832
HP:0031508	Abnormal circulating thyroid hormone concentration	5626	PROP1	ORPHA:226307
HP:0031508	Abnormal circulating thyroid hormone concentration	89884	LHX4	ORPHA:226307
HP:0031508	Abnormal circulating thyroid hormone concentration	8022	LHX3	ORPHA:226307
HP:0031508	Abnormal circulating thyroid hormone concentration	5449	POU1F1	ORPHA:226307
HP:0031508	Abnormal circulating thyroid hormone concentration	8820	HESX1	ORPHA:226307
HP:0031508	Abnormal circulating thyroid hormone concentration	405753	DUOXA2	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	6528	SLC5A5	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	7038	TG	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	7173	TPO	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	7173	TPO	OMIM:274500
HP:0031508	Abnormal circulating thyroid hormone concentration	389434	IYD	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	50506	DUOX2	ORPHA:95716
HP:0031508	Abnormal circulating thyroid hormone concentration	50506	DUOX2	ORPHA:226316
HP:0031508	Abnormal circulating thyroid hormone concentration	169792	GLIS3	OMIM:610199
HP:0031508	Abnormal circulating thyroid hormone concentration	79053	ALG8	OMIM:608104
HP:0031508	Abnormal circulating thyroid hormone concentration	7252	TSHB	OMIM:275100
HP:0031508	Abnormal circulating thyroid hormone concentration	7252	TSHB	ORPHA:90674
HP:0031508	Abnormal circulating thyroid hormone concentration	8239	USP9X	ORPHA:480880
HP:0031508	Abnormal circulating thyroid hormone concentration	54914	FOCAD	OMIM:619991
HP:0031508	Abnormal circulating thyroid hormone concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0031508	Abnormal circulating thyroid hormone concentration	213	ALB	OMIM:615999
HP:0031508	Abnormal circulating thyroid hormone concentration	8471	IRS4	OMIM:301035
HP:0031508	Abnormal circulating thyroid hormone concentration	1482	NKX2-5	OMIM:225250
HP:0031508	Abnormal circulating thyroid hormone concentration	1363	CPE	OMIM:619326
HP:0031508	Abnormal circulating thyroid hormone concentration	6907	TBL1X	OMIM:301033
HP:0031508	Abnormal circulating thyroid hormone concentration	8567	MADD	OMIM:619004
HP:0031508	Abnormal circulating thyroid hormone concentration	1733	DIO1	OMIM:619855
HP:0005661	Salmonella osteomyelitis	3459	IFNGR1	OMIM:209950
HP:0005661	Salmonella osteomyelitis	3459	IFNGR1	OMIM:615978
HP:0005661	Salmonella osteomyelitis	3594	IL12RB1	ORPHA:319552
HP:0008430	Anterior beaking of lumbar vertebrae	2720	GLB1	OMIM:230650
HP:0008430	Anterior beaking of lumbar vertebrae	2517	FUCA1	OMIM:230000
HP:0008430	Anterior beaking of lumbar vertebrae	2517	FUCA1	ORPHA:349
HP:0008430	Anterior beaking of lumbar vertebrae	2588	GALNS	OMIM:253000
HP:0008430	Anterior beaking of lumbar vertebrae	2990	GUSB	OMIM:253220
HP:0008430	Anterior beaking of lumbar vertebrae	2990	GUSB	ORPHA:584
HP:0008430	Anterior beaking of lumbar vertebrae	175	AGA	ORPHA:93
HP:0100610	Maternal hyperphenylalaninemia	5053	PAH	OMIM:261600
HP:0100611	Multiple glomerular cysts	4535	MT-ND1	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4536	MT-ND2	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4537	MT-ND3	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4538	MT-ND4	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4567	MT-TL1	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4578	MT-TW	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4577	MT-TV	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4508	MT-ATP6	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4540	MT-ND5	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4541	MT-ND6	ORPHA:255210
HP:0100611	Multiple glomerular cysts	4566	MT-TK	ORPHA:255210
HP:0100611	Multiple glomerular cysts	27031	NPHP3	OMIM:267010
HP:0100611	Multiple glomerular cysts	93649	MYOCD	OMIM:618719
HP:0100611	Multiple glomerular cysts	6928	HNF1B	OMIM:137920
HP:0100612	Odontogenic neoplasm	5727	PTCH1	ORPHA:77301
HP:0100612	Odontogenic neoplasm	5727	PTCH1	OMIM:109400
HP:0100612	Odontogenic neoplasm	324	APC	OMIM:175100
HP:0100612	Odontogenic neoplasm	324	APC	ORPHA:247806
HP:0100612	Odontogenic neoplasm	324	APC	ORPHA:79665
HP:0100612	Odontogenic neoplasm	2248	FGF3	ORPHA:2791
HP:0100612	Odontogenic neoplasm	8481	OFD1	ORPHA:2750
HP:0100612	Odontogenic neoplasm	4952	OCRL	ORPHA:534
HP:0100612	Odontogenic neoplasm	3339	HSPG2	ORPHA:800
HP:0100613	Death in early adulthood	60	ACTB	ORPHA:79107
HP:0100613	Death in early adulthood	4072	EPCAM	ORPHA:144
HP:0100613	Death in early adulthood	4292	MLH1	ORPHA:144
HP:0100613	Death in early adulthood	5395	PMS2	ORPHA:144
HP:0100613	Death in early adulthood	27030	MLH3	ORPHA:144
HP:0100613	Death in early adulthood	22909	FAN1	ORPHA:144
HP:0100613	Death in early adulthood	7048	TGFBR2	ORPHA:144
HP:0100613	Death in early adulthood	3845	KRAS	ORPHA:144
HP:0100613	Death in early adulthood	5290	PIK3CA	ORPHA:144
HP:0100613	Death in early adulthood	2956	MSH6	ORPHA:144
HP:0100613	Death in early adulthood	5378	PMS1	ORPHA:144
HP:0100613	Death in early adulthood	4436	MSH2	ORPHA:144
HP:0100613	Death in early adulthood	27183	VPS4A	OMIM:619273
HP:0100613	Death in early adulthood	1832	DSP	OMIM:605676
HP:0100613	Death in early adulthood	6329	SCN4A	ORPHA:682
HP:0100613	Death in early adulthood	10269	ZMPSTE24	OMIM:608612
HP:0100613	Death in early adulthood	6197	RPS6KA3	ORPHA:192
HP:0100613	Death in early adulthood	3918	LAMC2	OMIM:619786
HP:0100613	Death in early adulthood	351	APP	ORPHA:100006
HP:0100613	Death in early adulthood	10479	SLC9A6	ORPHA:85278
HP:0100613	Death in early adulthood	1471	CST3	ORPHA:100008
HP:0100613	Death in early adulthood	6804	STX1A	ORPHA:904
HP:0100613	Death in early adulthood	7461	CLIP2	ORPHA:904
HP:0100613	Death in early adulthood	84277	DNAJC30	ORPHA:904
HP:0100613	Death in early adulthood	8468	FKBP6	ORPHA:904
HP:0100613	Death in early adulthood	5982	RFC2	ORPHA:904
HP:0100613	Death in early adulthood	2969	GTF2I	ORPHA:904
HP:0100613	Death in early adulthood	3984	LIMK1	ORPHA:904
HP:0100613	Death in early adulthood	9569	GTF2IRD1	ORPHA:904
HP:0100613	Death in early adulthood	155382	VPS37D	ORPHA:904
HP:0100613	Death in early adulthood	155368	METTL27	ORPHA:904
HP:0100613	Death in early adulthood	114049	BUD23	ORPHA:904
HP:0100613	Death in early adulthood	7458	EIF4H	ORPHA:904
HP:0100613	Death in early adulthood	84163	GTF2IRD2	ORPHA:904
HP:0100613	Death in early adulthood	9275	BCL7B	ORPHA:904
HP:0100613	Death in early adulthood	26608	TBL2	ORPHA:904
HP:0100613	Death in early adulthood	653361	NCF1	ORPHA:904
HP:0100613	Death in early adulthood	135886	TMEM270	ORPHA:904
HP:0100613	Death in early adulthood	51085	MLXIPL	ORPHA:904
HP:0100613	Death in early adulthood	9031	BAZ1B	ORPHA:904
HP:0100613	Death in early adulthood	2006	ELN	ORPHA:904
HP:0100613	Death in early adulthood	4625	MYH7	OMIM:255160
HP:0100613	Death in early adulthood	1890	TYMP	OMIM:603041
HP:0100613	Death in early adulthood	5428	POLG	OMIM:603041
HP:0100613	Death in early adulthood	617	BCS1L	ORPHA:53693
HP:0100613	Death in early adulthood	55703	POLR3B	OMIM:607694
HP:0100613	Death in early adulthood	11128	POLR3A	OMIM:607694
HP:0100614	Myositis	5692	PSMB4	OMIM:617591
HP:0100614	Myositis	5698	PSMB9	OMIM:617591
HP:0100614	Myositis	50943	FOXP3	ORPHA:37042
HP:0100614	Myositis	340061	STING1	OMIM:615934
HP:0100614	Myositis	7132	TNFRSF1A	OMIM:142680
HP:0100614	Myositis	7132	TNFRSF1A	ORPHA:32960
HP:0100614	Myositis	6775	STAT4	ORPHA:93552
HP:0100614	Myositis	6775	STAT4	ORPHA:117
HP:0100614	Myositis	6696	SPP1	ORPHA:93552
HP:0100614	Myositis	3654	IRAK1	ORPHA:93552
HP:0100614	Myositis	4210	MEFV	ORPHA:3243
HP:0100614	Myositis	4210	MEFV	ORPHA:117
HP:0100614	Myositis	825	CAPN3	OMIM:253600
HP:0100614	Myositis	56984	PSMG2	OMIM:619183
HP:0100614	Myositis	9051	PSTPIP1	ORPHA:69126
HP:0100614	Myositis	3181	HNRNPA2B1	OMIM:615422
HP:0100614	Myositis	23175	LPIN1	ORPHA:99845
HP:0100614	Myositis	4512	MT-CO1	ORPHA:99845
HP:0100614	Myositis	4514	MT-CO3	ORPHA:99845
HP:0100614	Myositis	3662	IRF4	ORPHA:3452
HP:0100614	Myositis	10535	RNASEH2A	ORPHA:51
HP:0100614	Myositis	84153	RNASEH2C	ORPHA:51
HP:0100614	Myositis	25939	SAMHD1	ORPHA:51
HP:0100614	Myositis	79621	RNASEH2B	ORPHA:51
HP:0100614	Myositis	103	ADAR	ORPHA:51
HP:0100614	Myositis	11277	TREX1	ORPHA:51
HP:0100614	Myositis	100147744	RNU7-1	ORPHA:51
HP:0100614	Myositis	134353	LSM11	ORPHA:51
HP:0100614	Myositis	64135	IFIH1	ORPHA:51
HP:0100614	Myositis	3908	LAMA2	ORPHA:258
HP:0100614	Myositis	149233	IL23R	ORPHA:117
HP:0100614	Myositis	3586	IL10	ORPHA:117
HP:0100614	Myositis	1230	CCR1	ORPHA:117
HP:0100614	Myositis	355	FAS	ORPHA:117
HP:0100614	Myositis	3592	IL12A	ORPHA:117
HP:0100614	Myositis	101928376	IL12A-AS1	ORPHA:117
HP:0100614	Myositis	3106	HLA-B	ORPHA:117
HP:0100614	Myositis	7099	TLR4	ORPHA:117
HP:0100614	Myositis	3459	IFNGR1	ORPHA:117
HP:0100614	Myositis	720	C4A	ORPHA:117
HP:0100614	Myositis	337867	UBAC2	ORPHA:117
HP:0100614	Myositis	51752	ERAP1	ORPHA:117
HP:0100614	Myositis	8302	KLRC4	ORPHA:117
HP:0100615	Ovarian neoplasm	6662	SOX9	ORPHA:251510
HP:0100615	Ovarian neoplasm	6845	VAMP7	ORPHA:251510
HP:0100615	Ovarian neoplasm	51741	WWOX	ORPHA:251510
HP:0100615	Ovarian neoplasm	2516	NR5A1	ORPHA:251510
HP:0100615	Ovarian neoplasm	58524	DMRT3	ORPHA:251510
HP:0100615	Ovarian neoplasm	57647	DHX37	ORPHA:251510
HP:0100615	Ovarian neoplasm	6736	SRY	ORPHA:251510
HP:0100615	Ovarian neoplasm	23414	ZFPM2	ORPHA:251510
HP:0100615	Ovarian neoplasm	190	NR0B1	ORPHA:251510
HP:0100615	Ovarian neoplasm	2626	GATA4	ORPHA:251510
HP:0100615	Ovarian neoplasm	5727	PTCH1	ORPHA:77301
HP:0100615	Ovarian neoplasm	5727	PTCH1	OMIM:109400
HP:0100615	Ovarian neoplasm	4437	MSH3	ORPHA:480536
HP:0100615	Ovarian neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0100615	Ovarian neoplasm	50940	PDE11A	ORPHA:1359
HP:0100615	Ovarian neoplasm	285282	RABL3	ORPHA:1333
HP:0100615	Ovarian neoplasm	4089	SMAD4	ORPHA:1333
HP:0100615	Ovarian neoplasm	23022	PALLD	ORPHA:1333
HP:0100615	Ovarian neoplasm	23405	DICER1	OMIM:180295
HP:0100615	Ovarian neoplasm	8930	MBD4	OMIM:619975
HP:0100615	Ovarian neoplasm	4292	MLH1	OMIM:158320
HP:0100615	Ovarian neoplasm	4292	MLH1	ORPHA:144
HP:0100615	Ovarian neoplasm	4436	MSH2	OMIM:158320
HP:0100615	Ovarian neoplasm	4436	MSH2	ORPHA:144
HP:0100615	Ovarian neoplasm	54894	RNF43	ORPHA:157798
HP:0100615	Ovarian neoplasm	7486	WRN	ORPHA:902
HP:0100615	Ovarian neoplasm	672	BRCA1	OMIM:604370
HP:0100615	Ovarian neoplasm	672	BRCA1	ORPHA:145
HP:0100615	Ovarian neoplasm	672	BRCA1	OMIM:617883
HP:0100615	Ovarian neoplasm	5728	PTEN	ORPHA:744
HP:0100615	Ovarian neoplasm	5728	PTEN	ORPHA:145
HP:0100615	Ovarian neoplasm	5728	PTEN	ORPHA:65285
HP:0100615	Ovarian neoplasm	5728	PTEN	ORPHA:137608
HP:0100615	Ovarian neoplasm	7157	TP53	ORPHA:524
HP:0100615	Ovarian neoplasm	7157	TP53	ORPHA:145
HP:0100615	Ovarian neoplasm	1029	CDKN2A	ORPHA:524
HP:0100615	Ovarian neoplasm	4193	MDM2	ORPHA:524
HP:0100615	Ovarian neoplasm	11200	CHEK2	ORPHA:524
HP:0100615	Ovarian neoplasm	11200	CHEK2	ORPHA:145
HP:0100615	Ovarian neoplasm	5892	RAD51D	ORPHA:145
HP:0100615	Ovarian neoplasm	675	BRCA2	ORPHA:145
HP:0100615	Ovarian neoplasm	675	BRCA2	OMIM:612555
HP:0100615	Ovarian neoplasm	10111	RAD50	ORPHA:145
HP:0100615	Ovarian neoplasm	580	BARD1	ORPHA:145
HP:0100615	Ovarian neoplasm	5888	RAD51	ORPHA:145
HP:0100615	Ovarian neoplasm	4683	NBN	ORPHA:145
HP:0100615	Ovarian neoplasm	5889	RAD51C	ORPHA:145
HP:0100615	Ovarian neoplasm	83990	BRIP1	ORPHA:145
HP:0100615	Ovarian neoplasm	4361	MRE11	ORPHA:145
HP:0100615	Ovarian neoplasm	79728	PALB2	ORPHA:145
HP:0100615	Ovarian neoplasm	4072	EPCAM	ORPHA:144
HP:0100615	Ovarian neoplasm	5395	PMS2	ORPHA:144
HP:0100615	Ovarian neoplasm	5395	PMS2	OMIM:614337
HP:0100615	Ovarian neoplasm	27030	MLH3	ORPHA:144
HP:0100615	Ovarian neoplasm	22909	FAN1	ORPHA:144
HP:0100615	Ovarian neoplasm	7048	TGFBR2	ORPHA:144
HP:0100615	Ovarian neoplasm	3845	KRAS	ORPHA:144
HP:0100615	Ovarian neoplasm	2956	MSH6	ORPHA:144
HP:0100615	Ovarian neoplasm	2956	MSH6	OMIM:614350
HP:0100615	Ovarian neoplasm	5378	PMS1	ORPHA:144
HP:0100615	Ovarian neoplasm	80326	WNT10A	ORPHA:50944
HP:0100615	Ovarian neoplasm	2130	EWSR1	ORPHA:83469
HP:0100615	Ovarian neoplasm	7490	WT1	ORPHA:83469
HP:0100615	Ovarian neoplasm	64218	SEMA4A	ORPHA:440437
HP:0100615	Ovarian neoplasm	657	BMPR1A	ORPHA:440437
HP:0100615	Ovarian neoplasm	6224	RPS20	ORPHA:440437
HP:0100615	Ovarian neoplasm	2304	FOXE1	OMIM:616534
HP:0100615	Ovarian neoplasm	65998	ZFTA	ORPHA:251636
HP:0100615	Ovarian neoplasm	5970	RELA	ORPHA:251636
HP:0100615	Ovarian neoplasm	3418	IDH2	ORPHA:163634
HP:0100615	Ovarian neoplasm	3417	IDH1	ORPHA:163634
HP:0100615	Ovarian neoplasm	10734	STAG3	OMIM:615723
HP:0100615	Ovarian neoplasm	161742	SPRED1	ORPHA:137605
HP:0100615	Ovarian neoplasm	4000	LMNA	ORPHA:79474
HP:0100615	Ovarian neoplasm	9817	KEAP1	ORPHA:276399
HP:0100615	Ovarian neoplasm	2313	FLI1	ORPHA:370348
HP:0100615	Ovarian neoplasm	4214	MAP3K1	OMIM:613762
HP:0100615	Ovarian neoplasm	999	CDH1	OMIM:167000
HP:0100615	Ovarian neoplasm	5071	PRKN	OMIM:167000
HP:0100615	Ovarian neoplasm	4978	OPCML	OMIM:167000
HP:0100615	Ovarian neoplasm	207	AKT1	OMIM:167000
HP:0100615	Ovarian neoplasm	2064	ERBB2	OMIM:167000
HP:0100615	Ovarian neoplasm	5290	PIK3CA	OMIM:167000
HP:0100615	Ovarian neoplasm	1499	CTNNB1	OMIM:167000
HP:0100615	Ovarian neoplasm	2263	FGFR2	OMIM:123500
HP:0100615	Ovarian neoplasm	50846	DHH	OMIM:233420
HP:0100617	Testicular seminoma	412	STS	ORPHA:281090
HP:0100617	Testicular seminoma	9817	KEAP1	ORPHA:276399
HP:0100617	Testicular seminoma	23405	DICER1	ORPHA:276399
HP:0100617	Testicular seminoma	3481	IGF2	OMIM:180860
HP:0100618	Leydig cell neoplasia	56246	MRAP	ORPHA:361
HP:0100618	Leydig cell neoplasia	6770	STAR	ORPHA:361
HP:0100618	Leydig cell neoplasia	4158	MC2R	ORPHA:361
HP:0100618	Leydig cell neoplasia	23530	NNT	ORPHA:361
HP:0100618	Leydig cell neoplasia	10587	TXNRD2	ORPHA:361
HP:0100618	Leydig cell neoplasia	5573	PRKAR1A	ORPHA:1359
HP:0100618	Leydig cell neoplasia	50940	PDE11A	ORPHA:1359
HP:0100619	Sertoli cell neoplasm	6794	STK11	OMIM:175200
HP:0100619	Sertoli cell neoplasm	9817	KEAP1	ORPHA:276399
HP:0100619	Sertoli cell neoplasm	23405	DICER1	ORPHA:276399
HP:0100619	Sertoli cell neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0100619	Sertoli cell neoplasm	50940	PDE11A	ORPHA:1359
HP:0005667	Os odontoideum	64802	NMNAT1	OMIM:619260
HP:0005667	Os odontoideum	5832	ALDH18A1	OMIM:616603
HP:0031500	Abdominal mass	23095	KIF1B	OMIM:256700
HP:0031500	Abdominal mass	166379	BBS12	OMIM:615989
HP:0031501	Pelvic mass	4665	NAB2	ORPHA:2126
HP:0031501	Pelvic mass	6778	STAT6	ORPHA:2126
HP:0031501	Pelvic mass	2313	FLI1	ORPHA:370348
HP:0031502	Trophoblastic tumor	7157	TP53	OMIM:151623
HP:0031502	Trophoblastic tumor	7157	TP53	ORPHA:524
HP:0031502	Trophoblastic tumor	1029	CDKN2A	ORPHA:524
HP:0031502	Trophoblastic tumor	4193	MDM2	ORPHA:524
HP:0031502	Trophoblastic tumor	11200	CHEK2	ORPHA:524
HP:0031502	Trophoblastic tumor	6794	STK11	OMIM:273300
HP:0031502	Trophoblastic tumor	8915	BCL10	OMIM:273300
HP:0031502	Trophoblastic tumor	3815	KIT	OMIM:273300
HP:0031502	Trophoblastic tumor	2261	FGFR3	OMIM:273300
HP:0031515	Abnormal meiosis	24145	PANX1	ORPHA:488191
HP:0031515	Abnormal meiosis	494551	WEE2	ORPHA:488191
HP:0031515	Abnormal meiosis	197135	PATL2	ORPHA:488191
HP:0031515	Abnormal meiosis	347688	TUBB8	ORPHA:488191
HP:0031515	Abnormal meiosis	9319	TRIP13	OMIM:619011
HP:0031516	Oocyte arrest at metaphase I	197135	PATL2	OMIM:617743
HP:0031516	Oocyte arrest at metaphase I	197135	PATL2	ORPHA:488191
HP:0031516	Oocyte arrest at metaphase I	347688	TUBB8	OMIM:616780
HP:0031516	Oocyte arrest at metaphase I	347688	TUBB8	ORPHA:488191
HP:0031516	Oocyte arrest at metaphase I	9319	TRIP13	OMIM:619011
HP:0031516	Oocyte arrest at metaphase I	24145	PANX1	ORPHA:488191
HP:0031516	Oocyte arrest at metaphase I	494551	WEE2	ORPHA:488191
HP:0005671	Bilateral intracerebral calcifications	1893	ECM1	OMIM:247100
HP:0100620	Germinoma	412	STS	ORPHA:281090
HP:0100620	Germinoma	9817	KEAP1	ORPHA:276399
HP:0100620	Germinoma	23405	DICER1	ORPHA:276399
HP:0100620	Germinoma	3481	IGF2	OMIM:180860
HP:0100620	Germinoma	4214	MAP3K1	OMIM:613762
HP:0100620	Germinoma	999	CDH1	OMIM:167000
HP:0100620	Germinoma	5071	PRKN	OMIM:167000
HP:0100620	Germinoma	4978	OPCML	OMIM:167000
HP:0100620	Germinoma	207	AKT1	OMIM:167000
HP:0100620	Germinoma	2064	ERBB2	OMIM:167000
HP:0100620	Germinoma	5290	PIK3CA	OMIM:167000
HP:0100620	Germinoma	1499	CTNNB1	OMIM:167000
HP:0100620	Germinoma	2263	FGFR2	OMIM:123500
HP:0100620	Germinoma	50846	DHH	OMIM:233420
HP:0100621	Dysgerminoma	4214	MAP3K1	OMIM:613762
HP:0100621	Dysgerminoma	999	CDH1	OMIM:167000
HP:0100621	Dysgerminoma	5071	PRKN	OMIM:167000
HP:0100621	Dysgerminoma	4978	OPCML	OMIM:167000
HP:0100621	Dysgerminoma	207	AKT1	OMIM:167000
HP:0100621	Dysgerminoma	2064	ERBB2	OMIM:167000
HP:0100621	Dysgerminoma	5290	PIK3CA	OMIM:167000
HP:0100621	Dysgerminoma	1499	CTNNB1	OMIM:167000
HP:0100621	Dysgerminoma	2263	FGFR2	OMIM:123500
HP:0100621	Dysgerminoma	50846	DHH	OMIM:233420
HP:0100623	Abnormal corpus cavernosum morphology	2626	GATA4	OMIM:615542
HP:0100625	Enlarged thorax	64132	XYLT2	OMIM:605822
HP:0100625	Enlarged thorax	10940	POP1	OMIM:617396
HP:0100625	Enlarged thorax	55969	RAB5IF	OMIM:616994
HP:0100625	Enlarged thorax	54361	WNT4	ORPHA:247768
HP:0100625	Enlarged thorax	673	BRAF	OMIM:115150
HP:0100625	Enlarged thorax	673	BRAF	OMIM:613707
HP:0100625	Enlarged thorax	673	BRAF	OMIM:613706
HP:0100625	Enlarged thorax	673	BRAF	OMIM:163950
HP:0100625	Enlarged thorax	10847	SRCAP	ORPHA:2044
HP:0100625	Enlarged thorax	8216	LZTR1	OMIM:605275
HP:0100625	Enlarged thorax	3845	KRAS	OMIM:609942
HP:0100625	Enlarged thorax	5604	MAP2K1	OMIM:163950
HP:0100625	Enlarged thorax	5781	PTPN11	OMIM:163950
HP:0100625	Enlarged thorax	3417	IDH1	ORPHA:99646
HP:0100625	Enlarged thorax	54808	DYM	OMIM:223800
HP:0100625	Enlarged thorax	54808	DYM	OMIM:607326
HP:0100625	Enlarged thorax	1280	COL2A1	OMIM:271700
HP:0100625	Enlarged thorax	1280	COL2A1	ORPHA:94068
HP:0100625	Enlarged thorax	1280	COL2A1	OMIM:200610
HP:0100625	Enlarged thorax	1280	COL2A1	OMIM:183900
HP:0100625	Enlarged thorax	3930	LBR	OMIM:215140
HP:0100625	Enlarged thorax	9321	TRIP11	OMIM:200600
HP:0100625	Enlarged thorax	6399	TRAPPC2	ORPHA:93284
HP:0100625	Enlarged thorax	6399	TRAPPC2	OMIM:313400
HP:0100625	Enlarged thorax	4621	MYH3	OMIM:178110
HP:0100625	Enlarged thorax	65082	VPS33A	ORPHA:505248
HP:0100625	Enlarged thorax	54	ACP5	OMIM:607944
HP:0100625	Enlarged thorax	9469	CHST3	ORPHA:263463
HP:0100625	Enlarged thorax	9469	CHST3	OMIM:143095
HP:0100625	Enlarged thorax	11014	KDELR2	OMIM:619131
HP:0100625	Enlarged thorax	2517	FUCA1	OMIM:230000
HP:0100625	Enlarged thorax	1305	COL13A1	OMIM:616720
HP:0100625	Enlarged thorax	7476	WNT7A	OMIM:276820
HP:0100625	Enlarged thorax	59341	TRPV4	OMIM:113500
HP:0100625	Enlarged thorax	4982	TNFRSF11B	OMIM:239000
HP:0100625	Enlarged thorax	9451	EIF2AK3	OMIM:226980
HP:0100625	Enlarged thorax	83452	RAB33B	OMIM:615222
HP:0100625	Enlarged thorax	22858	CILK1	OMIM:612651
HP:0100625	Enlarged thorax	6023	RMRP	OMIM:607095
HP:0100625	Enlarged thorax	176	ACAN	ORPHA:171866
HP:0100625	Enlarged thorax	176	ACAN	OMIM:612813
HP:0100625	Enlarged thorax	4041	LRP5	OMIM:259770
HP:0100625	Enlarged thorax	3265	HRAS	OMIM:218040
HP:0100625	Enlarged thorax	64175	P3H1	OMIM:610915
HP:0100625	Enlarged thorax	4000	LMNA	ORPHA:1662
HP:0100625	Enlarged thorax	10269	ZMPSTE24	ORPHA:1662
HP:0100625	Enlarged thorax	10269	ZMPSTE24	OMIM:275210
HP:0100625	Enlarged thorax	2626	GATA4	ORPHA:251071
HP:0100625	Enlarged thorax	2990	GUSB	ORPHA:584
HP:0100625	Enlarged thorax	27238	GPKOW	ORPHA:2570
HP:0100625	Enlarged thorax	5594	MAPK1	OMIM:619087
HP:0100625	Enlarged thorax	9820	CUL7	ORPHA:2616
HP:0100625	Enlarged thorax	23363	OBSL1	ORPHA:2616
HP:0100625	Enlarged thorax	83987	CCDC8	ORPHA:2616
HP:0100625	Enlarged thorax	168667	BMPER	ORPHA:66637
HP:0100625	Enlarged thorax	649	BMP1	OMIM:614856
HP:0100625	Enlarged thorax	22800	RRAS2	ORPHA:648
HP:0100625	Enlarged thorax	867	CBL	ORPHA:648
HP:0100625	Enlarged thorax	6016	RIT1	ORPHA:648
HP:0100625	Enlarged thorax	6237	RRAS	ORPHA:648
HP:0100625	Enlarged thorax	5894	RAF1	ORPHA:648
HP:0100625	Enlarged thorax	22808	MRAS	ORPHA:648
HP:0100625	Enlarged thorax	200734	SPRED2	ORPHA:648
HP:0100625	Enlarged thorax	4893	NRAS	ORPHA:648
HP:0100625	Enlarged thorax	6654	SOS1	ORPHA:648
HP:0100625	Enlarged thorax	6655	SOS2	ORPHA:648
HP:0100625	Enlarged thorax	5922	RASA2	ORPHA:648
HP:0100625	Enlarged thorax	2200	FBN1	ORPHA:284979
HP:0100625	Enlarged thorax	7994	KAT6A	OMIM:616268
HP:0100625	Enlarged thorax	7703	PCGF2	OMIM:618371
HP:0100625	Enlarged thorax	27152	INTU	OMIM:617925
HP:0100625	Enlarged thorax	5566	PRKACA	OMIM:619142
HP:0100625	Enlarged thorax	5567	PRKACB	OMIM:619143
HP:0100625	Enlarged thorax	8260	NAA10	ORPHA:568
HP:0100625	Enlarged thorax	54880	BCOR	ORPHA:568
HP:0100626	Chronic hepatic failure	56623	INPP5E	ORPHA:1454
HP:0100626	Chronic hepatic failure	91147	TMEM67	ORPHA:1454
HP:0100626	Chronic hepatic failure	23322	RPGRIP1L	ORPHA:1454
HP:0100626	Chronic hepatic failure	57545	CC2D2A	ORPHA:1454
HP:0100626	Chronic hepatic failure	654	BMP6	ORPHA:465508
HP:0100626	Chronic hepatic failure	3077	HFE	ORPHA:465508
HP:0100626	Chronic hepatic failure	3032	HADHB	ORPHA:746
HP:0100626	Chronic hepatic failure	3030	HADHA	ORPHA:746
HP:0100626	Chronic hepatic failure	2859	GPR35	ORPHA:171
HP:0100626	Chronic hepatic failure	10507	SEMA4D	ORPHA:171
HP:0100626	Chronic hepatic failure	4485	MST1	ORPHA:171
HP:0100626	Chronic hepatic failure	6925	TCF4	ORPHA:171
HP:0100626	Chronic hepatic failure	3431	SP110	ORPHA:79124
HP:0100626	Chronic hepatic failure	229	ALDOB	ORPHA:469
HP:0100627	Displacement of the urethral meatus	29123	ANKRD11	OMIM:148050
HP:0100627	Displacement of the urethral meatus	26005	C2CD3	ORPHA:434179
HP:0100627	Displacement of the urethral meatus	26005	C2CD3	OMIM:615948
HP:0100627	Displacement of the urethral meatus	3670	ISL1	ORPHA:93930
HP:0100627	Displacement of the urethral meatus	26235	FBXL4	OMIM:615471
HP:0100627	Displacement of the urethral meatus	1947	EFNB1	ORPHA:1520
HP:0100627	Displacement of the urethral meatus	1947	EFNB1	OMIM:304110
HP:0100627	Displacement of the urethral meatus	4204	MECP2	ORPHA:1762
HP:0100627	Displacement of the urethral meatus	4204	MECP2	OMIM:300260
HP:0100627	Displacement of the urethral meatus	6938	TCF12	OMIM:619718
HP:0100627	Displacement of the urethral meatus	9820	CUL7	ORPHA:2616
HP:0100627	Displacement of the urethral meatus	9820	CUL7	OMIM:273750
HP:0100627	Displacement of the urethral meatus	23363	OBSL1	ORPHA:2616
HP:0100627	Displacement of the urethral meatus	83987	CCDC8	ORPHA:2616
HP:0100627	Displacement of the urethral meatus	81857	MED25	OMIM:616449
HP:0100627	Displacement of the urethral meatus	81857	MED25	ORPHA:464738
HP:0100627	Displacement of the urethral meatus	79848	CSPP1	ORPHA:397715
HP:0100627	Displacement of the urethral meatus	9786	KIAA0586	ORPHA:397715
HP:0100627	Displacement of the urethral meatus	197131	UBR1	OMIM:243800
HP:0100627	Displacement of the urethral meatus	197131	UBR1	ORPHA:2315
HP:0100627	Displacement of the urethral meatus	267010	RNU12	OMIM:603116
HP:0100627	Displacement of the urethral meatus	5932	RBBP8	OMIM:606744
HP:0100627	Displacement of the urethral meatus	116931	MED12L	OMIM:618872
HP:0100627	Displacement of the urethral meatus	9578	CDC42BPB	OMIM:619841
HP:0100627	Displacement of the urethral meatus	1528	CYB5A	ORPHA:90796
HP:0100627	Displacement of the urethral meatus	1528	CYB5A	OMIM:250790
HP:0100627	Displacement of the urethral meatus	1586	CYP17A1	ORPHA:90796
HP:0100627	Displacement of the urethral meatus	1586	CYP17A1	ORPHA:90793
HP:0100627	Displacement of the urethral meatus	8239	USP9X	OMIM:300919
HP:0100627	Displacement of the urethral meatus	5189	PEX1	OMIM:214100
HP:0100627	Displacement of the urethral meatus	5189	PEX1	ORPHA:912
HP:0100627	Displacement of the urethral meatus	284058	KANSL1	ORPHA:363958
HP:0100627	Displacement of the urethral meatus	284058	KANSL1	ORPHA:363965
HP:0100627	Displacement of the urethral meatus	4853	NOTCH2	OMIM:102500
HP:0100627	Displacement of the urethral meatus	4853	NOTCH2	ORPHA:955
HP:0100627	Displacement of the urethral meatus	9968	MED12	ORPHA:93932
HP:0100627	Displacement of the urethral meatus	9968	MED12	OMIM:305450
HP:0100627	Displacement of the urethral meatus	7020	TFAP2A	OMIM:113620
HP:0100627	Displacement of the urethral meatus	5566	PRKACA	ORPHA:289
HP:0100627	Displacement of the urethral meatus	5567	PRKACB	ORPHA:289
HP:0100627	Displacement of the urethral meatus	2735	GLI1	ORPHA:289
HP:0100627	Displacement of the urethral meatus	2121	EVC	ORPHA:289
HP:0100627	Displacement of the urethral meatus	2121	EVC	OMIM:225500
HP:0100627	Displacement of the urethral meatus	51626	DYNC2LI1	ORPHA:289
HP:0100627	Displacement of the urethral meatus	132884	EVC2	ORPHA:289
HP:0100627	Displacement of the urethral meatus	132884	EVC2	OMIM:225500
HP:0100627	Displacement of the urethral meatus	1281	COL3A1	ORPHA:286
HP:0100627	Displacement of the urethral meatus	23347	SMCHD1	OMIM:603457
HP:0100627	Displacement of the urethral meatus	10815	CPLX1	ORPHA:280
HP:0100627	Displacement of the urethral meatus	10815	CPLX1	OMIM:194190
HP:0100627	Displacement of the urethral meatus	54872	PIGG	ORPHA:280
HP:0100627	Displacement of the urethral meatus	7469	NELFA	ORPHA:280
HP:0100627	Displacement of the urethral meatus	1487	CTBP1	ORPHA:280
HP:0100627	Displacement of the urethral meatus	1487	CTBP1	OMIM:194190
HP:0100627	Displacement of the urethral meatus	3954	LETM1	ORPHA:280
HP:0100627	Displacement of the urethral meatus	3954	LETM1	OMIM:194190
HP:0100627	Displacement of the urethral meatus	7468	NSD2	ORPHA:280
HP:0100627	Displacement of the urethral meatus	7468	NSD2	OMIM:194190
HP:0100627	Displacement of the urethral meatus	54968	TMEM70	OMIM:614052
HP:0100627	Displacement of the urethral meatus	54968	TMEM70	ORPHA:1194
HP:0100627	Displacement of the urethral meatus	833	CARS1	OMIM:618891
HP:0100627	Displacement of the urethral meatus	80776	B9D2	OMIM:614175
HP:0100627	Displacement of the urethral meatus	57178	ZMIZ1	OMIM:618659
HP:0100627	Displacement of the urethral meatus	8642	DCHS1	OMIM:601390
HP:0100627	Displacement of the urethral meatus	8642	DCHS1	ORPHA:314679
HP:0100627	Displacement of the urethral meatus	26040	SETBP1	OMIM:269150
HP:0100627	Displacement of the urethral meatus	26040	SETBP1	ORPHA:798
HP:0100627	Displacement of the urethral meatus	3981	LIG4	ORPHA:235
HP:0100627	Displacement of the urethral meatus	54888	NSUN2	ORPHA:235
HP:0100627	Displacement of the urethral meatus	8260	NAA10	OMIM:309800
HP:0100627	Displacement of the urethral meatus	8260	NAA10	ORPHA:568
HP:0100627	Displacement of the urethral meatus	54880	BCOR	OMIM:309800
HP:0100627	Displacement of the urethral meatus	54880	BCOR	ORPHA:568
HP:0100627	Displacement of the urethral meatus	54880	BCOR	OMIM:300166
HP:0100627	Displacement of the urethral meatus	1349	COX7B	OMIM:309801
HP:0100627	Displacement of the urethral meatus	1349	COX7B	ORPHA:2556
HP:0100627	Displacement of the urethral meatus	3052	HCCS	OMIM:309801
HP:0100627	Displacement of the urethral meatus	3052	HCCS	ORPHA:2556
HP:0100627	Displacement of the urethral meatus	54539	NDUFB11	OMIM:309801
HP:0100627	Displacement of the urethral meatus	54539	NDUFB11	ORPHA:2556
HP:0100627	Displacement of the urethral meatus	54914	FOCAD	OMIM:619991
HP:0100627	Displacement of the urethral meatus	8363	H4C11	OMIM:619759
HP:0100627	Displacement of the urethral meatus	5590	PRKCZ	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	2563	GABRD	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	23013	SPEN	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	8510	MMP23B	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	7798	LUZP1	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	6497	SKI	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	10630	PDPN	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	3339	HSPG2	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	10277	UBE4B	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	8514	KCNAB2	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	473	RERE	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	473	RERE	ORPHA:494344
HP:0100627	Displacement of the urethral meatus	473	RERE	OMIM:616975
HP:0100627	Displacement of the urethral meatus	63976	PRDM16	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	54897	CASZ1	ORPHA:1606
HP:0100627	Displacement of the urethral meatus	6134	RPL10	ORPHA:459070
HP:0100627	Displacement of the urethral meatus	6134	RPL10	OMIM:300998
HP:0100627	Displacement of the urethral meatus	6134	RPL10	ORPHA:435938
HP:0100627	Displacement of the urethral meatus	1859	DYRK1A	ORPHA:464311
HP:0100627	Displacement of the urethral meatus	1859	DYRK1A	ORPHA:268261
HP:0100627	Displacement of the urethral meatus	7750	ZMYM2	OMIM:619522
HP:0100627	Displacement of the urethral meatus	51339	DACT1	OMIM:617466
HP:0100627	Displacement of the urethral meatus	51339	DACT1	ORPHA:857
HP:0100627	Displacement of the urethral meatus	9772	TMEM94	OMIM:618316
HP:0100627	Displacement of the urethral meatus	79633	FAT4	ORPHA:314679
HP:0100627	Displacement of the urethral meatus	79633	FAT4	OMIM:615546
HP:0100627	Displacement of the urethral meatus	2239	GPC4	ORPHA:373
HP:0100627	Displacement of the urethral meatus	2239	GPC4	OMIM:312870
HP:0100627	Displacement of the urethral meatus	2719	GPC3	ORPHA:373
HP:0100627	Displacement of the urethral meatus	2719	GPC3	OMIM:312870
HP:0100627	Displacement of the urethral meatus	2260	FGFR1	OMIM:166250
HP:0100627	Displacement of the urethral meatus	2260	FGFR1	OMIM:615465
HP:0100627	Displacement of the urethral meatus	25836	NIPBL	OMIM:122470
HP:0100627	Displacement of the urethral meatus	25836	NIPBL	ORPHA:199
HP:0100627	Displacement of the urethral meatus	9725	TMEM63A	OMIM:618688
HP:0100627	Displacement of the urethral meatus	7476	WNT7A	OMIM:276820
HP:0100627	Displacement of the urethral meatus	54361	WNT4	OMIM:611812
HP:0100627	Displacement of the urethral meatus	54361	WNT4	ORPHA:139466
HP:0100627	Displacement of the urethral meatus	79087	ALG12	ORPHA:79324
HP:0100627	Displacement of the urethral meatus	79087	ALG12	OMIM:607143
HP:0100627	Displacement of the urethral meatus	9896	FIG4	OMIM:216340
HP:0100627	Displacement of the urethral meatus	9896	FIG4	ORPHA:3472
HP:0100627	Displacement of the urethral meatus	6135	RPL11	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6138	RPL15	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6229	RPS24	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6125	RPL5	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6204	RPS10	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6224	RPS20	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6165	RPL35A	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6165	RPL35A	OMIM:612528
HP:0100627	Displacement of the urethral meatus	2623	GATA1	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6223	RPS19	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6232	RPS27	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6231	RPS26	ORPHA:124
HP:0100627	Displacement of the urethral meatus	11224	RPL35	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6160	RPL31	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6218	RPS17	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6201	RPS7	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6155	RPL27	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6154	RPL26	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6210	RPS15A	ORPHA:124
HP:0100627	Displacement of the urethral meatus	90121	TSR2	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6141	RPL18	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6235	RPS29	ORPHA:124
HP:0100627	Displacement of the urethral meatus	6234	RPS28	ORPHA:124
HP:0100627	Displacement of the urethral meatus	51816	ADA2	ORPHA:124
HP:0100627	Displacement of the urethral meatus	57539	WDR35	OMIM:614091
HP:0100627	Displacement of the urethral meatus	1523	CUX1	OMIM:618330
HP:0100627	Displacement of the urethral meatus	5426	POLE	OMIM:618336
HP:0100627	Displacement of the urethral meatus	5426	POLE	ORPHA:85173
HP:0100627	Displacement of the urethral meatus	81603	TRIM8	OMIM:619428
HP:0100627	Displacement of the urethral meatus	2737	GLI3	ORPHA:672
HP:0100627	Displacement of the urethral meatus	2737	GLI3	ORPHA:36
HP:0100627	Displacement of the urethral meatus	2737	GLI3	OMIM:175700
HP:0100627	Displacement of the urethral meatus	2737	GLI3	ORPHA:93322
HP:0100627	Displacement of the urethral meatus	22827	PUF60	ORPHA:508498
HP:0100627	Displacement of the urethral meatus	6477	SIAH1	OMIM:619314
HP:0100627	Displacement of the urethral meatus	8473	OGT	OMIM:300997
HP:0100627	Displacement of the urethral meatus	10765	KDM5B	OMIM:618109
HP:0100627	Displacement of the urethral meatus	5308	PITX2	ORPHA:782
HP:0100627	Displacement of the urethral meatus	5308	PITX2	OMIM:180500
HP:0100627	Displacement of the urethral meatus	2296	FOXC1	ORPHA:782
HP:0100627	Displacement of the urethral meatus	374654	KIF7	ORPHA:36
HP:0100627	Displacement of the urethral meatus	374654	KIF7	OMIM:200990
HP:0100627	Displacement of the urethral meatus	27125	AFF4	ORPHA:444077
HP:0100627	Displacement of the urethral meatus	6299	SALL1	OMIM:107480
HP:0100627	Displacement of the urethral meatus	6299	SALL1	ORPHA:857
HP:0100627	Displacement of the urethral meatus	1387	CREBBP	ORPHA:353281
HP:0100627	Displacement of the urethral meatus	1387	CREBBP	OMIM:180849
HP:0100627	Displacement of the urethral meatus	1387	CREBBP	ORPHA:353277
HP:0100627	Displacement of the urethral meatus	29998	BICRA	OMIM:619325
HP:0100627	Displacement of the urethral meatus	2033	EP300	ORPHA:353284
HP:0100627	Displacement of the urethral meatus	2033	EP300	OMIM:180849
HP:0100627	Displacement of the urethral meatus	26128	KIFBP	ORPHA:66629
HP:0100627	Displacement of the urethral meatus	8626	TP63	OMIM:106260
HP:0100627	Displacement of the urethral meatus	8626	TP63	OMIM:129400
HP:0100627	Displacement of the urethral meatus	8626	TP63	ORPHA:1896
HP:0100627	Displacement of the urethral meatus	3039	HBA1	ORPHA:98791
HP:0100627	Displacement of the urethral meatus	3040	HBA2	ORPHA:98791
HP:0100627	Displacement of the urethral meatus	4703	NEB	OMIM:619334
HP:0100627	Displacement of the urethral meatus	4703	NEB	ORPHA:171430
HP:0100627	Displacement of the urethral meatus	51132	RLIM	OMIM:300978
HP:0100627	Displacement of the urethral meatus	6928	HNF1B	OMIM:137920
HP:0100627	Displacement of the urethral meatus	6928	HNF1B	ORPHA:93111
HP:0100627	Displacement of the urethral meatus	284654	RSPO1	OMIM:610644
HP:0100627	Displacement of the urethral meatus	1312	COMT	ORPHA:567
HP:0100627	Displacement of the urethral meatus	221037	JMJD1C	ORPHA:567
HP:0100627	Displacement of the urethral meatus	2812	GP1BB	ORPHA:567
HP:0100627	Displacement of the urethral meatus	6239	RREB1	ORPHA:567
HP:0100627	Displacement of the urethral meatus	7290	HIRA	ORPHA:567
HP:0100627	Displacement of the urethral meatus	9632	SEC24C	ORPHA:567
HP:0100627	Displacement of the urethral meatus	7353	UFD1	ORPHA:567
HP:0100627	Displacement of the urethral meatus	421	ARVCF	ORPHA:567
HP:0100627	Displacement of the urethral meatus	25942	SIN3A	ORPHA:94065
HP:0100627	Displacement of the urethral meatus	25942	SIN3A	OMIM:613406
HP:0100627	Displacement of the urethral meatus	10524	KAT5	OMIM:619103
HP:0100627	Displacement of the urethral meatus	23522	KAT6B	OMIM:603736
HP:0100627	Displacement of the urethral meatus	7317	UBA1	OMIM:301830
HP:0100627	Displacement of the urethral meatus	8802	SUCLG1	ORPHA:17
HP:0100627	Displacement of the urethral meatus	4700	NDUFA6	OMIM:618253
HP:0100627	Displacement of the urethral meatus	5144	PDE4D	ORPHA:439822
HP:0100627	Displacement of the urethral meatus	5144	PDE4D	OMIM:614613
HP:0100627	Displacement of the urethral meatus	5144	PDE4D	ORPHA:280651
HP:0100627	Displacement of the urethral meatus	2475	MTOR	ORPHA:457485
HP:0100627	Displacement of the urethral meatus	4990	SIX6	OMIM:206900
HP:0100627	Displacement of the urethral meatus	6657	SOX2	OMIM:206900
HP:0100627	Displacement of the urethral meatus	6657	SOX2	ORPHA:77298
HP:0100627	Displacement of the urethral meatus	23594	ORC6	OMIM:613803
HP:0100627	Displacement of the urethral meatus	23594	ORC6	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	9791	PTDSS1	OMIM:151050
HP:0100627	Displacement of the urethral meatus	9791	PTDSS1	ORPHA:2658
HP:0100627	Displacement of the urethral meatus	6611	SMS	ORPHA:3063
HP:0100627	Displacement of the urethral meatus	54809	SAMD9	OMIM:617053
HP:0100627	Displacement of the urethral meatus	9851	KIAA0753	OMIM:619479
HP:0100627	Displacement of the urethral meatus	145173	B3GLCT	OMIM:261540
HP:0100627	Displacement of the urethral meatus	145173	B3GLCT	ORPHA:709
HP:0100627	Displacement of the urethral meatus	6711	SPTBN1	OMIM:619475
HP:0100627	Displacement of the urethral meatus	5781	PTPN11	ORPHA:500
HP:0100627	Displacement of the urethral meatus	5781	PTPN11	OMIM:151100
HP:0100627	Displacement of the urethral meatus	5781	PTPN11	OMIM:163950
HP:0100627	Displacement of the urethral meatus	673	BRAF	ORPHA:500
HP:0100627	Displacement of the urethral meatus	673	BRAF	OMIM:163950
HP:0100627	Displacement of the urethral meatus	5894	RAF1	ORPHA:500
HP:0100627	Displacement of the urethral meatus	2887	GRB10	ORPHA:96182
HP:0100627	Displacement of the urethral meatus	51360	MBTPS2	OMIM:308205
HP:0100627	Displacement of the urethral meatus	2222	FDFT1	OMIM:618156
HP:0100627	Displacement of the urethral meatus	374879	ZNF699	OMIM:619488
HP:0100627	Displacement of the urethral meatus	8318	CDC45	OMIM:617063
HP:0100627	Displacement of the urethral meatus	8318	CDC45	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	1028	CDKN1C	ORPHA:85173
HP:0100627	Displacement of the urethral meatus	1028	CDKN1C	OMIM:614732
HP:0100627	Displacement of the urethral meatus	1028	CDKN1C	ORPHA:397590
HP:0100627	Displacement of the urethral meatus	22995	CEP152	OMIM:613823
HP:0100627	Displacement of the urethral meatus	10084	PQBP1	OMIM:309500
HP:0100627	Displacement of the urethral meatus	6748	SSR4	OMIM:300934
HP:0100627	Displacement of the urethral meatus	219844	HYLS1	OMIM:236680
HP:0100627	Displacement of the urethral meatus	3239	HOXD13	ORPHA:887
HP:0100627	Displacement of the urethral meatus	9897	WASHC5	ORPHA:7
HP:0100627	Displacement of the urethral meatus	9897	WASHC5	OMIM:220210
HP:0100627	Displacement of the urethral meatus	28952	CCDC22	ORPHA:7
HP:0100627	Displacement of the urethral meatus	55181	SMG8	OMIM:619268
HP:0100627	Displacement of the urethral meatus	3735	KARS1	OMIM:619147
HP:0100627	Displacement of the urethral meatus	4713	NDUFB7	OMIM:620135
HP:0100627	Displacement of the urethral meatus	4702	NDUFA8	OMIM:619272
HP:0100627	Displacement of the urethral meatus	10128	LRPPRC	OMIM:220111
HP:0100627	Displacement of the urethral meatus	2294	FOXF1	OMIM:265380
HP:0100627	Displacement of the urethral meatus	8450	CUL4B	OMIM:300354
HP:0100627	Displacement of the urethral meatus	6770	STAR	OMIM:201710
HP:0100627	Displacement of the urethral meatus	341640	FREM2	ORPHA:2052
HP:0100627	Displacement of the urethral meatus	80144	FRAS1	ORPHA:2052
HP:0100627	Displacement of the urethral meatus	80144	FRAS1	OMIM:219000
HP:0100627	Displacement of the urethral meatus	23426	GRIP1	ORPHA:2052
HP:0100627	Displacement of the urethral meatus	23556	PIGN	ORPHA:2059
HP:0100627	Displacement of the urethral meatus	9839	ZEB2	OMIM:235730
HP:0100627	Displacement of the urethral meatus	9839	ZEB2	ORPHA:261552
HP:0100627	Displacement of the urethral meatus	9839	ZEB2	ORPHA:261537
HP:0100627	Displacement of the urethral meatus	64324	NSD1	ORPHA:821
HP:0100627	Displacement of the urethral meatus	29072	SETD2	ORPHA:821
HP:0100627	Displacement of the urethral meatus	10297	APC2	ORPHA:821
HP:0100627	Displacement of the urethral meatus	5447	POR	ORPHA:95699
HP:0100627	Displacement of the urethral meatus	5447	POR	OMIM:201750
HP:0100627	Displacement of the urethral meatus	4281	MID1	OMIM:300000
HP:0100627	Displacement of the urethral meatus	4281	MID1	ORPHA:2745
HP:0100627	Displacement of the urethral meatus	170302	ARX	OMIM:300004
HP:0100627	Displacement of the urethral meatus	170302	ARX	ORPHA:2508
HP:0100627	Displacement of the urethral meatus	58	ACTA1	ORPHA:171430
HP:0100627	Displacement of the urethral meatus	131377	KLHL40	ORPHA:171430
HP:0100627	Displacement of the urethral meatus	10324	KLHL41	ORPHA:171430
HP:0100627	Displacement of the urethral meatus	56203	LMOD3	ORPHA:171430
HP:0100627	Displacement of the urethral meatus	22858	CILK1	OMIM:612651
HP:0100627	Displacement of the urethral meatus	6662	SOX9	OMIM:114290
HP:0100627	Displacement of the urethral meatus	6662	SOX9	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	6662	SOX9	ORPHA:2138
HP:0100627	Displacement of the urethral meatus	55780	ERMARD	ORPHA:75857
HP:0100627	Displacement of the urethral meatus	9382	COG1	OMIM:611209
HP:0100627	Displacement of the urethral meatus	6595	SMARCA2	OMIM:619293
HP:0100627	Displacement of the urethral meatus	1146	CHRNG	OMIM:265000
HP:0100627	Displacement of the urethral meatus	57492	ARID1B	OMIM:135900
HP:0100627	Displacement of the urethral meatus	57492	ARID1B	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	1136	CHRNA3	OMIM:191800
HP:0100627	Displacement of the urethral meatus	672	BRCA1	ORPHA:84
HP:0100627	Displacement of the urethral meatus	10459	MAD2L2	ORPHA:84
HP:0100627	Displacement of the urethral meatus	7516	XRCC2	ORPHA:84
HP:0100627	Displacement of the urethral meatus	29089	UBE2T	ORPHA:84
HP:0100627	Displacement of the urethral meatus	675	BRCA2	ORPHA:84
HP:0100627	Displacement of the urethral meatus	55120	FANCL	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2177	FANCD2	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2175	FANCA	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2187	FANCB	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2176	FANCC	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2178	FANCE	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2188	FANCF	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2189	FANCG	ORPHA:84
HP:0100627	Displacement of the urethral meatus	5888	RAD51	ORPHA:84
HP:0100627	Displacement of the urethral meatus	5889	RAD51C	ORPHA:84
HP:0100627	Displacement of the urethral meatus	55159	RFWD3	ORPHA:84
HP:0100627	Displacement of the urethral meatus	83990	BRIP1	ORPHA:84
HP:0100627	Displacement of the urethral meatus	57697	FANCM	ORPHA:84
HP:0100627	Displacement of the urethral meatus	79728	PALB2	ORPHA:84
HP:0100627	Displacement of the urethral meatus	84464	SLX4	ORPHA:84
HP:0100627	Displacement of the urethral meatus	2072	ERCC4	ORPHA:84
HP:0100627	Displacement of the urethral meatus	55215	FANCI	ORPHA:84
HP:0100627	Displacement of the urethral meatus	7080	NKX2-1	ORPHA:209905
HP:0100627	Displacement of the urethral meatus	222663	SCUBE3	OMIM:619184
HP:0100627	Displacement of the urethral meatus	55697	VAC14	ORPHA:3472
HP:0100627	Displacement of the urethral meatus	79813	EHMT1	OMIM:610253
HP:0100627	Displacement of the urethral meatus	4214	MAP3K1	OMIM:613762
HP:0100627	Displacement of the urethral meatus	4214	MAP3K1	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	6845	VAMP7	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	51741	WWOX	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	58524	DMRT3	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	57647	DHX37	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	23414	ZFPM2	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	190	NR0B1	ORPHA:251510
HP:0100627	Displacement of the urethral meatus	83879	CDCA7	OMIM:616910
HP:0100627	Displacement of the urethral meatus	53834	FGFRL1	OMIM:194190
HP:0100627	Displacement of the urethral meatus	1857	DVL3	ORPHA:3107
HP:0100627	Displacement of the urethral meatus	7474	WNT5A	ORPHA:3107
HP:0100627	Displacement of the urethral meatus	1855	DVL1	ORPHA:3107
HP:0100627	Displacement of the urethral meatus	2535	FZD2	ORPHA:3107
HP:0100627	Displacement of the urethral meatus	2535	FZD2	OMIM:164745
HP:0100627	Displacement of the urethral meatus	5828	PEX2	OMIM:614866
HP:0100627	Displacement of the urethral meatus	5828	PEX2	ORPHA:912
HP:0100627	Displacement of the urethral meatus	11128	POLR3A	OMIM:264090
HP:0100627	Displacement of the urethral meatus	11128	POLR3A	ORPHA:3455
HP:0100627	Displacement of the urethral meatus	79228	THOC6	ORPHA:363444
HP:0100627	Displacement of the urethral meatus	57459	GATAD2B	ORPHA:363686
HP:0100627	Displacement of the urethral meatus	78989	COLEC11	OMIM:265050
HP:0100627	Displacement of the urethral meatus	5324	PLAG1	ORPHA:397590
HP:0100627	Displacement of the urethral meatus	8091	HMGA2	ORPHA:397590
HP:0100627	Displacement of the urethral meatus	3845	KRAS	ORPHA:3339
HP:0100627	Displacement of the urethral meatus	63895	PIEZO2	OMIM:248700
HP:0100627	Displacement of the urethral meatus	63895	PIEZO2	ORPHA:2461
HP:0100627	Displacement of the urethral meatus	9652	SKIC3	OMIM:222470
HP:0100627	Displacement of the urethral meatus	10661	KLF1	OMIM:613673
HP:0100627	Displacement of the urethral meatus	546	ATRX	OMIM:309580
HP:0100627	Displacement of the urethral meatus	546	ATRX	OMIM:301040
HP:0100627	Displacement of the urethral meatus	701	BUB1B	OMIM:257300
HP:0100627	Displacement of the urethral meatus	157570	ESCO2	OMIM:268300
HP:0100627	Displacement of the urethral meatus	157570	ESCO2	ORPHA:2319
HP:0100627	Displacement of the urethral meatus	5631	PRPS1	OMIM:300661
HP:0100627	Displacement of the urethral meatus	123016	TTC8	OMIM:615985
HP:0100627	Displacement of the urethral meatus	7319	UBE2A	ORPHA:163956
HP:0100627	Displacement of the urethral meatus	55670	PEX26	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5824	PEX19	ORPHA:912
HP:0100627	Displacement of the urethral meatus	8504	PEX3	ORPHA:912
HP:0100627	Displacement of the urethral meatus	8799	PEX11B	ORPHA:912
HP:0100627	Displacement of the urethral meatus	9409	PEX16	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5190	PEX6	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5830	PEX5	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5193	PEX12	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5194	PEX13	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5195	PEX14	ORPHA:912
HP:0100627	Displacement of the urethral meatus	5192	PEX10	ORPHA:912
HP:0100627	Displacement of the urethral meatus	4089	SMAD4	ORPHA:2588
HP:0100627	Displacement of the urethral meatus	10075	HUWE1	OMIM:309590
HP:0100627	Displacement of the urethral meatus	10159	ATP6AP2	OMIM:301045
HP:0100627	Displacement of the urethral meatus	10586	MAB21L2	OMIM:615877
HP:0100627	Displacement of the urethral meatus	55593	OTUD5	OMIM:301056
HP:0100627	Displacement of the urethral meatus	113179	ADAT3	ORPHA:363528
HP:0100627	Displacement of the urethral meatus	55209	SETD5	OMIM:615761
HP:0100627	Displacement of the urethral meatus	55784	MCTP2	ORPHA:1596
HP:0100627	Displacement of the urethral meatus	8085	KMT2D	ORPHA:2322
HP:0100627	Displacement of the urethral meatus	7403	KDM6A	ORPHA:2322
HP:0100627	Displacement of the urethral meatus	998	CDC42	OMIM:616737
HP:0100627	Displacement of the urethral meatus	998	CDC42	ORPHA:487796
HP:0100627	Displacement of the urethral meatus	10982	MAPRE2	OMIM:616734
HP:0100627	Displacement of the urethral meatus	10982	MAPRE2	ORPHA:2505
HP:0100627	Displacement of the urethral meatus	8831	SYNGAP1	ORPHA:544254
HP:0100627	Displacement of the urethral meatus	6597	SMARCA4	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6598	SMARCB1	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6659	SOX4	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	8289	ARID1A	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	5977	DPF2	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6601	SMARCC2	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6602	SMARCD1	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	196528	ARID2	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6605	SMARCE1	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	6664	SOX11	ORPHA:1465
HP:0100627	Displacement of the urethral meatus	134701	RIPPLY2	ORPHA:2311
HP:0100627	Displacement of the urethral meatus	10683	DLL3	ORPHA:2311
HP:0100627	Displacement of the urethral meatus	3955	LFNG	ORPHA:2311
HP:0100627	Displacement of the urethral meatus	84667	HES7	ORPHA:2311
HP:0100627	Displacement of the urethral meatus	145873	MESP2	ORPHA:2311
HP:0100627	Displacement of the urethral meatus	81620	CDT1	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	5000	ORC4	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	990	CDC6	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	4998	ORC1	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	51053	GMNN	ORPHA:2554
HP:0100627	Displacement of the urethral meatus	23028	KDM1A	ORPHA:477993
HP:0100627	Displacement of the urethral meatus	25	ABL1	OMIM:617602
HP:0100627	Displacement of the urethral meatus	545	ATR	OMIM:210600
HP:0100627	Displacement of the urethral meatus	5116	PCNT	OMIM:210720
HP:0100627	Displacement of the urethral meatus	5723	PSPH	ORPHA:79350
HP:0100627	Displacement of the urethral meatus	23476	BRD4	ORPHA:199
HP:0100627	Displacement of the urethral meatus	9126	SMC3	ORPHA:199
HP:0100627	Displacement of the urethral meatus	8243	SMC1A	ORPHA:199
HP:0100627	Displacement of the urethral meatus	55869	HDAC8	ORPHA:199
HP:0100627	Displacement of the urethral meatus	5885	RAD21	ORPHA:199
HP:0100627	Displacement of the urethral meatus	1589	CYP21A2	OMIM:201910
HP:0100627	Displacement of the urethral meatus	4659	PPP1R12A	OMIM:618820
HP:0100627	Displacement of the urethral meatus	25914	RTTN	ORPHA:468631
HP:0100627	Displacement of the urethral meatus	4796	TONSL	ORPHA:93357
HP:0100627	Displacement of the urethral meatus	202018	TAPT1	OMIM:616897
HP:0100627	Displacement of the urethral meatus	3110	MNX1	ORPHA:1552
HP:0100627	Displacement of the urethral meatus	4047	LSS	OMIM:618840
HP:0100627	Displacement of the urethral meatus	5879	RAC1	OMIM:617751
HP:0100627	Displacement of the urethral meatus	5879	RAC1	ORPHA:500159
HP:0100627	Displacement of the urethral meatus	51780	KDM3B	OMIM:618846
HP:0100627	Displacement of the urethral meatus	4724	NDUFS4	OMIM:252010
HP:0100627	Displacement of the urethral meatus	4000	LMNA	ORPHA:1662
HP:0100627	Displacement of the urethral meatus	10269	ZMPSTE24	ORPHA:1662
HP:0100627	Displacement of the urethral meatus	10269	ZMPSTE24	OMIM:275210
HP:0100627	Displacement of the urethral meatus	5718	PSMD12	OMIM:617516
HP:0100627	Displacement of the urethral meatus	5573	PRKAR1A	ORPHA:280651
HP:0100627	Displacement of the urethral meatus	1468	SLC25A10	OMIM:618972
HP:0100627	Displacement of the urethral meatus	203068	TUBB	ORPHA:2505
HP:0100627	Displacement of the urethral meatus	5604	MAP2K1	OMIM:163950
HP:0100627	Displacement of the urethral meatus	6716	SRD5A2	OMIM:264600
HP:0100627	Displacement of the urethral meatus	6716	SRD5A2	ORPHA:753
HP:0100627	Displacement of the urethral meatus	367	AR	OMIM:300633
HP:0100627	Displacement of the urethral meatus	367	AR	ORPHA:90797
HP:0100627	Displacement of the urethral meatus	367	AR	OMIM:312300
HP:0100627	Displacement of the urethral meatus	2626	GATA4	OMIM:615542
HP:0100627	Displacement of the urethral meatus	131118	DNAJC19	ORPHA:66634
HP:0100627	Displacement of the urethral meatus	3209	HOXA13	OMIM:176305
HP:0100627	Displacement of the urethral meatus	8195	MKKS	ORPHA:2473
HP:0100627	Displacement of the urethral meatus	10847	SRCAP	OMIM:136140
HP:0100627	Displacement of the urethral meatus	389827	MYMK	ORPHA:1358
HP:0100627	Displacement of the urethral meatus	101929726	MYMX	ORPHA:1358
HP:0100627	Displacement of the urethral meatus	745	MYRF	OMIM:618280
HP:0100627	Displacement of the urethral meatus	1717	DHCR7	OMIM:270400
HP:0100627	Displacement of the urethral meatus	3284	HSD3B2	OMIM:201810
HP:0100627	Displacement of the urethral meatus	3284	HSD3B2	ORPHA:90791
HP:0100627	Displacement of the urethral meatus	2516	NR5A1	OMIM:617480
HP:0100627	Displacement of the urethral meatus	2516	NR5A1	OMIM:612965
HP:0100627	Displacement of the urethral meatus	372	ARCN1	OMIM:617164
HP:0100627	Displacement of the urethral meatus	10584	COLEC10	OMIM:248340
HP:0100627	Displacement of the urethral meatus	10046	MAMLD1	ORPHA:456328
HP:0100627	Displacement of the urethral meatus	10046	MAMLD1	OMIM:300758
HP:0100627	Displacement of the urethral meatus	4534	MTM1	ORPHA:456328
HP:0100627	Displacement of the urethral meatus	3481	IGF2	OMIM:616489
HP:0100627	Displacement of the urethral meatus	1009	CDH11	ORPHA:1299
HP:0100627	Displacement of the urethral meatus	1009	CDH11	OMIM:211380
HP:0100627	Displacement of the urethral meatus	6736	SRY	ORPHA:1772
HP:0100627	Displacement of the urethral meatus	3187	HNRNPH1	OMIM:620083
HP:0100627	Displacement of the urethral meatus	57724	EPG5	OMIM:242840
HP:0100627	Displacement of the urethral meatus	10606	PAICS	OMIM:619859
HP:0100627	Displacement of the urethral meatus	2263	FGFR2	OMIM:149730
HP:0100627	Displacement of the urethral meatus	50945	TBX22	ORPHA:921
HP:0100627	Displacement of the urethral meatus	1583	CYP11A1	ORPHA:289548
HP:0100627	Displacement of the urethral meatus	1583	CYP11A1	ORPHA:168558
HP:0100627	Displacement of the urethral meatus	80169	CTC1	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	26277	TINF2	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	55651	NHP2	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	79650	USB1	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	55135	WRAP53	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	51750	RTEL1	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	4869	NPM1	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	7012	TERC	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	55505	NOP10	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	5073	PARN	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	7015	TERT	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	1736	DKC1	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	7298	TYMS	ORPHA:1775
HP:0100627	Displacement of the urethral meatus	5080	PAX6	ORPHA:893
HP:0100627	Displacement of the urethral meatus	627	BDNF	ORPHA:893
HP:0100627	Displacement of the urethral meatus	7490	WT1	ORPHA:893
HP:0100627	Displacement of the urethral meatus	79827	CLMP	ORPHA:2301
HP:0100627	Displacement of the urethral meatus	2316	FLNA	ORPHA:2301
HP:0100627	Displacement of the urethral meatus	10908	PNPLA6	ORPHA:2377
HP:0100627	Displacement of the urethral meatus	6899	TBX1	ORPHA:1727
HP:0100627	Displacement of the urethral meatus	2767	GNA11	ORPHA:1556
HP:0100627	Displacement of the urethral meatus	151188	ARL6IP6	ORPHA:1556
HP:0100628	Esophageal diverticulum	27152	INTU	OMIM:617925
HP:0100629	Midline facial cleft	57688	ZSWIM6	OMIM:603671
HP:0005678	Anterior atlanto-occipital dislocation	126792	B3GALT6	ORPHA:536467
HP:0001770	Toe syndactyly	2737	GLI3	ORPHA:672
HP:0001770	Toe syndactyly	2737	GLI3	ORPHA:380
HP:0001770	Toe syndactyly	2737	GLI3	OMIM:146510
HP:0001770	Toe syndactyly	341640	FREM2	ORPHA:2052
HP:0001770	Toe syndactyly	80144	FRAS1	ORPHA:2052
HP:0001770	Toe syndactyly	23426	GRIP1	ORPHA:2052
HP:0001770	Toe syndactyly	10262	SF3B4	OMIM:154400
HP:0001770	Toe syndactyly	6309	SC5D	ORPHA:46059
HP:0001770	Toe syndactyly	6309	SC5D	OMIM:607330
HP:0001770	Toe syndactyly	9759	HDAC4	ORPHA:1001
HP:0001770	Toe syndactyly	145173	B3GLCT	ORPHA:709
HP:0001770	Toe syndactyly	8626	TP63	OMIM:604292
HP:0001770	Toe syndactyly	8626	TP63	OMIM:103285
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:978
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:69085
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:1896
HP:0001770	Toe syndactyly	9241	NOG	OMIM:184460
HP:0001770	Toe syndactyly	55869	HDAC8	OMIM:300882
HP:0001770	Toe syndactyly	55869	HDAC8	ORPHA:199
HP:0001770	Toe syndactyly	117581	TWIST2	OMIM:200110
HP:0001770	Toe syndactyly	117581	TWIST2	ORPHA:920
HP:0001770	Toe syndactyly	374654	KIF7	OMIM:200990
HP:0001770	Toe syndactyly	3020	H3-3A	OMIM:619720
HP:0001770	Toe syndactyly	613	BCR	ORPHA:261330
HP:0001770	Toe syndactyly	1399	CRKL	ORPHA:261330
HP:0001770	Toe syndactyly	5594	MAPK1	ORPHA:261330
HP:0001770	Toe syndactyly	9790	BMS1	ORPHA:1114
HP:0001770	Toe syndactyly	5339	PLEC	ORPHA:1114
HP:0001770	Toe syndactyly	10054	UBA2	ORPHA:1114
HP:0001770	Toe syndactyly	3691	ITGB4	ORPHA:1114
HP:0001770	Toe syndactyly	54567	DLL4	ORPHA:1114
HP:0001770	Toe syndactyly	54101	RIPK4	ORPHA:1234
HP:0001770	Toe syndactyly	2314	FLII	ORPHA:819
HP:0001770	Toe syndactyly	23096	IQSEC2	ORPHA:819
HP:0001770	Toe syndactyly	23096	IQSEC2	ORPHA:217377
HP:0001770	Toe syndactyly	10743	RAI1	ORPHA:819
HP:0001770	Toe syndactyly	10522	DEAF1	ORPHA:819
HP:0001770	Toe syndactyly	5818	NECTIN1	ORPHA:3253
HP:0001770	Toe syndactyly	10225	CD96	OMIM:211750
HP:0001770	Toe syndactyly	10225	CD96	ORPHA:1308
HP:0001770	Toe syndactyly	4038	LRP4	ORPHA:3258
HP:0001770	Toe syndactyly	324	APC	ORPHA:3258
HP:0001770	Toe syndactyly	9126	SMC3	OMIM:610759
HP:0001770	Toe syndactyly	9126	SMC3	ORPHA:199
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:87
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93260
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93258
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93259
HP:0001770	Toe syndactyly	2263	FGFR2	OMIM:101400
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:168624
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:2363
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:1540
HP:0001770	Toe syndactyly	7480	WNT10B	OMIM:225300
HP:0001770	Toe syndactyly	7476	WNT7A	OMIM:228930
HP:0001770	Toe syndactyly	7021	TFAP2B	ORPHA:46627
HP:0001770	Toe syndactyly	2019	EN1	OMIM:619218
HP:0001770	Toe syndactyly	64359	NXN	ORPHA:1507
HP:0001770	Toe syndactyly	4920	ROR2	ORPHA:1507
HP:0001770	Toe syndactyly	672	BRCA1	ORPHA:84
HP:0001770	Toe syndactyly	10459	MAD2L2	ORPHA:84
HP:0001770	Toe syndactyly	7516	XRCC2	ORPHA:84
HP:0001770	Toe syndactyly	29089	UBE2T	ORPHA:84
HP:0001770	Toe syndactyly	675	BRCA2	ORPHA:84
HP:0001770	Toe syndactyly	55120	FANCL	ORPHA:84
HP:0001770	Toe syndactyly	2177	FANCD2	ORPHA:84
HP:0001770	Toe syndactyly	2175	FANCA	ORPHA:84
HP:0001770	Toe syndactyly	2187	FANCB	ORPHA:84
HP:0001770	Toe syndactyly	2176	FANCC	ORPHA:84
HP:0001770	Toe syndactyly	2178	FANCE	ORPHA:84
HP:0001770	Toe syndactyly	2188	FANCF	ORPHA:84
HP:0001770	Toe syndactyly	2189	FANCG	ORPHA:84
HP:0001770	Toe syndactyly	5888	RAD51	ORPHA:84
HP:0001770	Toe syndactyly	5889	RAD51C	ORPHA:84
HP:0001770	Toe syndactyly	55159	RFWD3	ORPHA:84
HP:0001770	Toe syndactyly	83990	BRIP1	ORPHA:84
HP:0001770	Toe syndactyly	57697	FANCM	ORPHA:84
HP:0001770	Toe syndactyly	79728	PALB2	ORPHA:84
HP:0001770	Toe syndactyly	84464	SLX4	ORPHA:84
HP:0001770	Toe syndactyly	2072	ERCC4	ORPHA:84
HP:0001770	Toe syndactyly	55215	FANCI	ORPHA:84
HP:0001770	Toe syndactyly	3759	KCNJ2	OMIM:170390
HP:0001770	Toe syndactyly	157570	ESCO2	ORPHA:2319
HP:0001770	Toe syndactyly	2260	FGFR1	ORPHA:93258
HP:0001770	Toe syndactyly	64093	SMOC1	ORPHA:1106
HP:0001770	Toe syndactyly	64093	SMOC1	OMIM:206920
HP:0001770	Toe syndactyly	2697	GJA1	ORPHA:2710
HP:0001770	Toe syndactyly	2697	GJA1	OMIM:186100
HP:0001770	Toe syndactyly	727857	BHLHA9	ORPHA:157801
HP:0001770	Toe syndactyly	652	BMP4	OMIM:607932
HP:0001770	Toe syndactyly	64327	LMBR1	ORPHA:93405
HP:0001770	Toe syndactyly	64327	LMBR1	ORPHA:2378
HP:0001770	Toe syndactyly	6469	SHH	ORPHA:93405
HP:0001770	Toe syndactyly	7291	TWIST1	OMIM:101400
HP:0001770	Toe syndactyly	3239	HOXD13	ORPHA:93409
HP:0001770	Toe syndactyly	2192	FBLN1	OMIM:608180
HP:0001770	Toe syndactyly	57167	SALL4	ORPHA:959
HP:0001770	Toe syndactyly	51715	RAB23	ORPHA:65759
HP:0001770	Toe syndactyly	51715	RAB23	OMIM:201000
HP:0001770	Toe syndactyly	1954	MEGF8	ORPHA:65759
HP:0001770	Toe syndactyly	25942	SIN3A	OMIM:613406
HP:0001770	Toe syndactyly	10716	TBR1	ORPHA:1617
HP:0001770	Toe syndactyly	2313	FLI1	ORPHA:2308
HP:0001770	Toe syndactyly	26227	PHGDH	OMIM:256520
HP:0001770	Toe syndactyly	23476	BRD4	ORPHA:199
HP:0001770	Toe syndactyly	8243	SMC1A	ORPHA:199
HP:0001770	Toe syndactyly	25836	NIPBL	ORPHA:199
HP:0001770	Toe syndactyly	5885	RAD21	ORPHA:199
HP:0001770	Toe syndactyly	55112	DYNC2I1	ORPHA:474
HP:0001770	Toe syndactyly	26160	IFT172	ORPHA:474
HP:0001770	Toe syndactyly	153241	CEP120	ORPHA:474
HP:0001770	Toe syndactyly	57560	IFT80	ORPHA:474
HP:0001770	Toe syndactyly	51626	DYNC2LI1	ORPHA:474
HP:0001770	Toe syndactyly	79659	DYNC2H1	ORPHA:474
HP:0001770	Toe syndactyly	9742	IFT140	ORPHA:474
HP:0001770	Toe syndactyly	57728	WDR19	ORPHA:474
HP:0001770	Toe syndactyly	89891	DYNC2I2	ORPHA:474
HP:0001770	Toe syndactyly	79809	TTC21B	ORPHA:474
HP:0001770	Toe syndactyly	3981	LIG4	ORPHA:235
HP:0001770	Toe syndactyly	54888	NSUN2	ORPHA:235
HP:0001770	Toe syndactyly	64840	PORCN	OMIM:305600
HP:0001770	Toe syndactyly	64840	PORCN	ORPHA:2092
HP:0001770	Toe syndactyly	1947	EFNB1	OMIM:304110
HP:0001770	Toe syndactyly	4613	MYCN	ORPHA:391641
HP:0001770	Toe syndactyly	84265	POLR3GL	OMIM:619234
HP:0001770	Toe syndactyly	65250	CPLANE1	OMIM:277170
HP:0001770	Toe syndactyly	92002	CCNQ	OMIM:300707
HP:0001770	Toe syndactyly	92002	CCNQ	ORPHA:140952
HP:0001770	Toe syndactyly	5290	PIK3CA	ORPHA:60040
HP:0001770	Toe syndactyly	91754	NEK9	ORPHA:64754
HP:0001770	Toe syndactyly	57514	ARHGAP31	OMIM:100300
HP:0001770	Toe syndactyly	79005	SCNM1	OMIM:620107
HP:0001770	Toe syndactyly	6608	SMO	OMIM:241800
HP:0001770	Toe syndactyly	6608	SMO	ORPHA:1553
HP:0001770	Toe syndactyly	6134	RPL10	ORPHA:459070
HP:0001770	Toe syndactyly	84992	PIGY	OMIM:616809
HP:0001770	Toe syndactyly	51633	OTUD6B	ORPHA:505237
HP:0001770	Toe syndactyly	374879	ZNF699	OMIM:619488
HP:0001770	Toe syndactyly	28957	MRPS28	OMIM:618958
HP:0001770	Toe syndactyly	8450	CUL4B	ORPHA:85293
HP:0001770	Toe syndactyly	2261	FGFR3	ORPHA:2363
HP:0001770	Toe syndactyly	2255	FGF10	ORPHA:2363
HP:0001770	Toe syndactyly	79971	WLS	OMIM:619648
HP:0001770	Toe syndactyly	6299	SALL1	ORPHA:857
HP:0001770	Toe syndactyly	51339	DACT1	ORPHA:857
HP:0001770	Toe syndactyly	526	ATP6V1B2	OMIM:124480
HP:0001770	Toe syndactyly	2316	FLNA	OMIM:304120
HP:0001770	Toe syndactyly	2316	FLNA	OMIM:311300
HP:0001770	Toe syndactyly	407975	MIR17HG	ORPHA:391646
HP:0001770	Toe syndactyly	2767	GNA11	ORPHA:1556
HP:0001770	Toe syndactyly	151188	ARL6IP6	ORPHA:1556
HP:0001770	Toe syndactyly	4208	MEF2C	ORPHA:228384
HP:0001770	Toe syndactyly	2239	GPC4	ORPHA:373
HP:0001770	Toe syndactyly	2719	GPC3	ORPHA:373
HP:0001770	Toe syndactyly	3664	IRF6	ORPHA:1300
HP:0001770	Toe syndactyly	4087	SMAD2	OMIM:619657
HP:0001770	Toe syndactyly	50945	TBX22	ORPHA:921
HP:0001770	Toe syndactyly	9896	FIG4	OMIM:216340
HP:0001770	Toe syndactyly	29968	PSAT1	OMIM:616038
HP:0001770	Toe syndactyly	26123	TCTN3	OMIM:258860
HP:0001770	Toe syndactyly	10682	EBP	ORPHA:401973
HP:0001770	Toe syndactyly	10682	EBP	OMIM:300960
HP:0001770	Toe syndactyly	658	BMPR1B	OMIM:112600
HP:0001770	Toe syndactyly	8200	GDF5	OMIM:112600
HP:0001770	Toe syndactyly	650	BMP2	OMIM:112600
HP:0001770	Toe syndactyly	22827	PUF60	ORPHA:508498
HP:0001770	Toe syndactyly	11253	MAN1B1	ORPHA:397941
HP:0001770	Toe syndactyly	23394	ADNP	ORPHA:404448
HP:0001770	Toe syndactyly	5898	RALA	OMIM:619311
HP:0001770	Toe syndactyly	8294	H4C9	OMIM:619951
HP:0001770	Toe syndactyly	8506	CNTNAP1	OMIM:618186
HP:0001770	Toe syndactyly	4683	NBN	OMIM:251260
HP:0001770	Toe syndactyly	81857	MED25	OMIM:616449
HP:0001770	Toe syndactyly	81857	MED25	ORPHA:464738
HP:0001770	Toe syndactyly	10586	MAB21L2	OMIM:615877
HP:0001770	Toe syndactyly	8854	ALDH1A2	OMIM:620025
HP:0001770	Toe syndactyly	10274	STAG1	ORPHA:502434
HP:0001770	Toe syndactyly	85358	SHANK3	OMIM:606232
HP:0001770	Toe syndactyly	64324	NSD1	ORPHA:821
HP:0001770	Toe syndactyly	29072	SETD2	ORPHA:821
HP:0001770	Toe syndactyly	10297	APC2	ORPHA:821
HP:0001770	Toe syndactyly	55209	SETD5	ORPHA:404440
HP:0001770	Toe syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0001770	Toe syndactyly	23291	FBXW11	OMIM:618914
HP:0001770	Toe syndactyly	10982	MAPRE2	OMIM:616734
HP:0001770	Toe syndactyly	1717	DHCR7	ORPHA:818
HP:0001770	Toe syndactyly	1717	DHCR7	OMIM:270400
HP:0001770	Toe syndactyly	4297	KMT2A	OMIM:605130
HP:0001770	Toe syndactyly	6660	SOX5	ORPHA:313892
HP:0001770	Toe syndactyly	54880	BCOR	ORPHA:2712
HP:0001770	Toe syndactyly	54880	BCOR	OMIM:300166
HP:0001770	Toe syndactyly	51057	WDPCP	OMIM:217085
HP:0001770	Toe syndactyly	7319	UBE2A	OMIM:300860
HP:0001770	Toe syndactyly	10087	CERT1	OMIM:616351
HP:0001770	Toe syndactyly	372	ARCN1	OMIM:617164
HP:0001770	Toe syndactyly	164	AP1G1	OMIM:619467
HP:0001770	Toe syndactyly	1656	DDX6	OMIM:618653
HP:0001770	Toe syndactyly	4212	MEIS2	OMIM:600987
HP:0001770	Toe syndactyly	23327	NEDD4L	OMIM:617201
HP:0001770	Toe syndactyly	5147	PDE6D	OMIM:615665
HP:0001770	Toe syndactyly	57178	ZMIZ1	OMIM:618659
HP:0001770	Toe syndactyly	93627	TBCK	ORPHA:488632
HP:0001770	Toe syndactyly	6304	SATB1	OMIM:619229
HP:0001770	Toe syndactyly	80185	TTI2	ORPHA:391307
HP:0001770	Toe syndactyly	10664	CTCF	ORPHA:363611
HP:0001770	Toe syndactyly	3590	IL11RA	OMIM:614188
HP:0001770	Toe syndactyly	55165	CEP55	OMIM:236500
HP:0001770	Toe syndactyly	10907	TXNL4A	OMIM:608572
HP:0001770	Toe syndactyly	284252	KCTD1	OMIM:181270
HP:0001770	Toe syndactyly	6558	SLC12A2	OMIM:619080
HP:0001770	Toe syndactyly	7204	TRIO	OMIM:617061
HP:0001770	Toe syndactyly	7204	TRIO	ORPHA:476126
HP:0001770	Toe syndactyly	2222	FDFT1	OMIM:618156
HP:0001770	Toe syndactyly	4089	SMAD4	OMIM:139210
HP:0001770	Toe syndactyly	6857	SYT1	ORPHA:522077
HP:0001770	Toe syndactyly	8318	CDC45	OMIM:617063
HP:0001770	Toe syndactyly	6472	SHMT2	OMIM:619121
HP:0001770	Toe syndactyly	57570	TRMT5	OMIM:616539
HP:0001770	Toe syndactyly	23529	CLCF1	OMIM:610313
HP:0001770	Toe syndactyly	11128	POLR3A	ORPHA:3455
HP:0001770	Toe syndactyly	745	MYRF	OMIM:618280
HP:0001770	Toe syndactyly	23387	SIK3	OMIM:618162
HP:0001770	Toe syndactyly	10020	GNE	OMIM:269921
HP:0001770	Toe syndactyly	10020	GNE	ORPHA:3166
HP:0001770	Toe syndactyly	1663	DDX11	OMIM:613398
HP:0001770	Toe syndactyly	5718	PSMD12	OMIM:617516
HP:0001770	Toe syndactyly	9757	KMT2B	OMIM:619934
HP:0001770	Toe syndactyly	4848	CNOT2	OMIM:618608
HP:0001770	Toe syndactyly	55023	PHIP	ORPHA:589905
HP:0001770	Toe syndactyly	341208	HEPHL1	OMIM:261990
HP:0001770	Toe syndactyly	55212	BBS7	OMIM:615984
HP:0001770	Toe syndactyly	3516	RBPJ	OMIM:614814
HP:0001770	Toe syndactyly	3720	JARID2	OMIM:620098
HP:0001770	Toe syndactyly	3762	KCNJ5	ORPHA:37553
HP:0001770	Toe syndactyly	9990	SLC12A6	OMIM:218000
HP:0001770	Toe syndactyly	51776	MAP3K20	OMIM:616890
HP:0001770	Toe syndactyly	51776	MAP3K20	ORPHA:488232
HP:0001770	Toe syndactyly	6913	TBX15	OMIM:260660
HP:0001770	Toe syndactyly	50814	NSDHL	OMIM:308050
HP:0001770	Toe syndactyly	81607	NECTIN4	OMIM:613573
HP:0001770	Toe syndactyly	79583	TMEM231	OMIM:614970
HP:0001770	Toe syndactyly	9894	TELO2	ORPHA:488642
HP:0001770	Toe syndactyly	5932	RBBP8	OMIM:251255
HP:0001770	Toe syndactyly	4204	MECP2	OMIM:300260
HP:0001770	Toe syndactyly	8295	TRRAP	OMIM:618454
HP:0001770	Toe syndactyly	91179	SCARF2	OMIM:600920
HP:0001770	Toe syndactyly	23288	IQCE	OMIM:617642
HP:0001770	Toe syndactyly	5587	PRKD1	OMIM:617364
HP:0001770	Toe syndactyly	55784	MCTP2	ORPHA:1596
HP:0001770	Toe syndactyly	23261	CAMTA1	OMIM:614756
HP:0001770	Toe syndactyly	775	CACNA1C	OMIM:620029
HP:0001770	Toe syndactyly	8823	FGF16	OMIM:309630
HP:0001770	Toe syndactyly	10079	ATP9A	OMIM:620242
HP:0001770	Toe syndactyly	2556	GABRA3	OMIM:301091
HP:0001770	Toe syndactyly	374969	SVBP	OMIM:618569
HP:0001770	Toe syndactyly	1859	DYRK1A	ORPHA:268261
HP:0001770	Toe syndactyly	1001	CDH3	OMIM:225280
HP:0001770	Toe syndactyly	387	RHOA	OMIM:618727
HP:0001770	Toe syndactyly	4626	MYH8	OMIM:158300
HP:0001770	Toe syndactyly	2254	FGF9	OMIM:612961
HP:0001770	Toe syndactyly	79633	FAT4	OMIM:615546
HP:0001770	Toe syndactyly	1387	CREBBP	OMIM:618332
HP:0001770	Toe syndactyly	64116	SLC39A8	ORPHA:468699
HP:0001770	Toe syndactyly	2033	EP300	OMIM:618333
HP:0001770	Toe syndactyly	56916	SMARCAD1	OMIM:129200
HP:0001770	Toe syndactyly	150468	CKAP2L	OMIM:272440
HP:0001770	Toe syndactyly	112752	IFT43	OMIM:614099
HP:0005679	Dupuytren contracture	3798	KIF5A	ORPHA:100991
HP:0031514	Increased proportion of exhausted T cells	399	RHOH	OMIM:618307
HP:0031526	Subretinal fluid	2202	EFEMP1	ORPHA:75376
HP:0031526	Subretinal fluid	3075	CFH	ORPHA:75376
HP:0031526	Subretinal fluid	3426	CFI	ORPHA:75376
HP:0031526	Subretinal fluid	4693	NDP	ORPHA:891
HP:0031526	Subretinal fluid	1499	CTNNB1	ORPHA:891
HP:0031526	Subretinal fluid	23554	TSPAN12	ORPHA:891
HP:0031526	Subretinal fluid	4041	LRP5	ORPHA:891
HP:0031526	Subretinal fluid	79797	ZNF408	ORPHA:891
HP:0031526	Subretinal fluid	8322	FZD4	ORPHA:891
HP:0031526	Subretinal fluid	7439	BEST1	OMIM:153700
HP:0031528	Subretinal deposits	79848	CSPP1	ORPHA:397715
HP:0031528	Subretinal deposits	9786	KIAA0586	ORPHA:397715
HP:0031528	Subretinal deposits	285440	CYP4V2	ORPHA:41751
HP:0031528	Subretinal deposits	7078	TIMP3	ORPHA:59181
HP:0031528	Subretinal deposits	114902	C1QTNF5	ORPHA:67042
HP:0031520	Groin pain	1280	COL2A1	OMIM:608805
HP:0031520	Groin pain	1280	COL2A1	ORPHA:86820
HP:0031520	Groin pain	59341	TRPV4	ORPHA:86820
HP:0005681	Juvenile rheumatoid arthritis	64421	DCLRE1C	ORPHA:275
HP:0005681	Juvenile rheumatoid arthritis	54	ACP5	OMIM:607944
HP:0005681	Juvenile rheumatoid arthritis	54	ACP5	ORPHA:1855
HP:0005681	Juvenile rheumatoid arthritis	144811	LACC1	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	4282	MIF	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	3569	IL6	ORPHA:85414
HP:0005682	Talocalcaneal synostosis	9496	TBX4	OMIM:147891
HP:0005684	Distal arthrogryposis	23389	MED13L	ORPHA:369891
HP:0005684	Distal arthrogryposis	65055	REEP1	OMIM:620011
HP:0005684	Distal arthrogryposis	2737	GLI3	ORPHA:672
HP:0005684	Distal arthrogryposis	4626	MYH8	OMIM:158300
HP:0005684	Distal arthrogryposis	4626	MYH8	OMIM:608837
HP:0005684	Distal arthrogryposis	7528	YY1	ORPHA:506358
HP:0005684	Distal arthrogryposis	7528	YY1	OMIM:617557
HP:0005684	Distal arthrogryposis	342035	GLDN	OMIM:617194
HP:0005684	Distal arthrogryposis	34	ACADM	ORPHA:42
HP:0005684	Distal arthrogryposis	57003	CCDC47	OMIM:618268
HP:0005684	Distal arthrogryposis	63895	PIEZO2	OMIM:114300
HP:0005684	Distal arthrogryposis	63895	PIEZO2	OMIM:108145
HP:0005684	Distal arthrogryposis	112	ADCY6	OMIM:616287
HP:0005684	Distal arthrogryposis	8506	CNTNAP1	OMIM:616286
HP:0005684	Distal arthrogryposis	4897	NRCAM	OMIM:619833
HP:0005684	Distal arthrogryposis	9289	ADGRG1	ORPHA:98889
HP:0005684	Distal arthrogryposis	5297	PI4KA	ORPHA:98889
HP:0005684	Distal arthrogryposis	27286	SRPX2	ORPHA:98889
HP:0005684	Distal arthrogryposis	7136	TNNI2	OMIM:601680
HP:0005684	Distal arthrogryposis	113189	CHST14	OMIM:601776
HP:0005684	Distal arthrogryposis	4649	MYO9A	OMIM:618198
HP:0005684	Distal arthrogryposis	84896	ATAD1	OMIM:618011
HP:0005684	Distal arthrogryposis	4604	MYBPC1	OMIM:614335
HP:0005684	Distal arthrogryposis	4604	MYBPC1	OMIM:614915
HP:0005684	Distal arthrogryposis	163175	LGI4	OMIM:617468
HP:0005684	Distal arthrogryposis	2201	FBN2	OMIM:121050
HP:0005684	Distal arthrogryposis	4654	MYOD1	OMIM:618975
HP:0005684	Distal arthrogryposis	9896	FIG4	OMIM:611228
HP:0100630	Neoplasia of the nasopharynx	6794	STK11	ORPHA:2869
HP:0100630	Neoplasia of the nasopharynx	7157	TP53	OMIM:607107
HP:0100630	Neoplasia of the nasopharynx	4486	MST1R	OMIM:617075
HP:0100630	Neoplasia of the nasopharynx	5573	PRKAR1A	ORPHA:1359
HP:0100630	Neoplasia of the nasopharynx	50940	PDE11A	ORPHA:1359
HP:0100631	Neoplasm of the adrenal gland	7157	TP53	OMIM:151623
HP:0100631	Neoplasm of the adrenal gland	7157	TP53	OMIM:202300
HP:0100631	Neoplasm of the adrenal gland	7157	TP53	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	7157	TP53	ORPHA:524
HP:0100631	Neoplasm of the adrenal gland	1026	CDKN1A	ORPHA:652
HP:0100631	Neoplasm of the adrenal gland	1030	CDKN2B	ORPHA:652
HP:0100631	Neoplasm of the adrenal gland	1031	CDKN2C	ORPHA:652
HP:0100631	Neoplasm of the adrenal gland	1028	CDKN1C	OMIM:130650
HP:0100631	Neoplasm of the adrenal gland	10984	KCNQ1OT1	OMIM:130650
HP:0100631	Neoplasm of the adrenal gland	3481	IGF2	OMIM:130650
HP:0100631	Neoplasm of the adrenal gland	3784	KCNQ1	OMIM:130650
HP:0100631	Neoplasm of the adrenal gland	84133	ZNRF3	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	5573	PRKAR1A	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	1499	CTNNB1	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	1029	CDKN2A	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	1029	CDKN2A	ORPHA:524
HP:0100631	Neoplasm of the adrenal gland	7015	TERT	ORPHA:1501
HP:0100631	Neoplasm of the adrenal gland	4193	MDM2	ORPHA:524
HP:0100631	Neoplasm of the adrenal gland	11200	CHEK2	ORPHA:524
HP:0100631	Neoplasm of the adrenal gland	7428	VHL	ORPHA:892
HP:0100631	Neoplasm of the adrenal gland	7428	VHL	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	7428	VHL	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	595	CCND1	ORPHA:892
HP:0100631	Neoplasm of the adrenal gland	1743	DLST	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	4191	MDH2	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	5979	RET	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	5979	RET	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	6389	SDHA	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	23095	KIF1B	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	2271	FH	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	8402	SLC25A11	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	54949	SDHAF2	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	55654	TMEM127	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	4763	NF1	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	6391	SDHC	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	6391	SDHC	OMIM:605373
HP:0100631	Neoplasm of the adrenal gland	6392	SDHD	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	6392	SDHD	OMIM:168000
HP:0100631	Neoplasm of the adrenal gland	6392	SDHD	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	6390	SDHB	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	6390	SDHB	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	6390	SDHB	OMIM:115310
HP:0100631	Neoplasm of the adrenal gland	4149	MAX	ORPHA:29072
HP:0100631	Neoplasm of the adrenal gland	1788	DNMT3A	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	2034	EPAS1	ORPHA:276621
HP:0100631	Neoplasm of the adrenal gland	6329	SCN4A	ORPHA:681
HP:0100631	Neoplasm of the adrenal gland	779	CACNA1S	ORPHA:681
HP:0100631	Neoplasm of the adrenal gland	10008	KCNE3	ORPHA:681
HP:0100631	Neoplasm of the adrenal gland	324	APC	OMIM:175100
HP:0100631	Neoplasm of the adrenal gland	324	APC	ORPHA:247806
HP:0100631	Neoplasm of the adrenal gland	324	APC	ORPHA:79665
HP:0100631	Neoplasm of the adrenal gland	1027	CDKN1B	ORPHA:276152
HP:0100631	Neoplasm of the adrenal gland	1181	CLCN2	ORPHA:404
HP:0100631	Neoplasm of the adrenal gland	1584	CYP11B1	ORPHA:403
HP:0100631	Neoplasm of the adrenal gland	1585	CYP11B2	ORPHA:403
HP:0100631	Neoplasm of the adrenal gland	4221	MEN1	ORPHA:97279
HP:0100631	Neoplasm of the adrenal gland	7528	YY1	ORPHA:97279
HP:0100631	Neoplasm of the adrenal gland	3418	IDH2	ORPHA:163634
HP:0100631	Neoplasm of the adrenal gland	3417	IDH1	ORPHA:163634
HP:0100631	Neoplasm of the adrenal gland	5728	PTEN	ORPHA:109
HP:0100632	Pulmonary sequestration	201163	FLCN	ORPHA:122
HP:0100632	Pulmonary sequestration	7490	WT1	ORPHA:3097
HP:0100632	Pulmonary sequestration	1523	CUX1	OMIM:618330
HP:0100633	Esophagitis	4629	MYH11	OMIM:619350
HP:0100633	Esophagitis	538	ATP7A	ORPHA:198
HP:0100633	Esophagitis	5966	REL	OMIM:619652
HP:0100633	Esophagitis	55612	FERMT1	ORPHA:2908
HP:0100633	Esophagitis	4221	MEN1	OMIM:131100
HP:0100633	Esophagitis	22900	CARD8	OMIM:619079
HP:0100633	Esophagitis	6135	RPL11	OMIM:612562
HP:0100633	Esophagitis	60684	TRAPPC11	OMIM:615356
HP:0100633	Esophagitis	5238	PGM3	ORPHA:443811
HP:0100633	Esophagitis	3376	IARS1	ORPHA:541423
HP:0100633	Esophagitis	81031	SLC2A10	ORPHA:3342
HP:0100633	Esophagitis	9719	ADAMTSL2	ORPHA:1901
HP:0100633	Esophagitis	9509	ADAMTS2	ORPHA:1901
HP:0100633	Esophagitis	6925	TCF4	ORPHA:2896
HP:0100633	Esophagitis	2887	GRB10	ORPHA:96182
HP:0100633	Esophagitis	2000	ELF4	OMIM:301074
HP:0100633	Esophagitis	2743	GLRB	ORPHA:3197
HP:0100633	Esophagitis	2741	GLRA1	ORPHA:3197
HP:0100633	Esophagitis	10243	GPHN	ORPHA:3197
HP:0100633	Esophagitis	84896	ATAD1	ORPHA:3197
HP:0100633	Esophagitis	9152	SLC6A5	ORPHA:3197
HP:0100633	Esophagitis	146206	CARMIL2	OMIM:618131
HP:0100633	Esophagitis	4010	LMX1B	ORPHA:495818
HP:0100633	Esophagitis	6812	STXBP1	ORPHA:495818
HP:0100633	Esophagitis	5723	PSPH	ORPHA:79350
HP:0100633	Esophagitis	26227	PHGDH	ORPHA:79351
HP:0100633	Esophagitis	1027	CDKN1B	ORPHA:276152
HP:0100633	Esophagitis	4088	SMAD3	OMIM:613795
HP:0100633	Esophagitis	7046	TGFBR1	OMIM:609192
HP:0100633	Esophagitis	81704	DOCK8	OMIM:243700
HP:0100633	Esophagitis	7048	TGFBR2	OMIM:610168
HP:0100633	Esophagitis	1828	DSG1	OMIM:615508
HP:0100633	Esophagitis	7042	TGFB2	OMIM:614816
HP:0100633	Esophagitis	7040	TGFB1	OMIM:618213
HP:0100633	Esophagitis	7043	TGFB3	OMIM:615582
HP:0100634	Neuroendocrine neoplasm	5573	PRKAR1A	OMIM:160980
HP:0100634	Neuroendocrine neoplasm	3265	HRAS	ORPHA:2874
HP:0100634	Neuroendocrine neoplasm	324	APC	OMIM:175100
HP:0100634	Neuroendocrine neoplasm	324	APC	ORPHA:79665
HP:0100634	Neuroendocrine neoplasm	7428	VHL	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	7428	VHL	ORPHA:276621
HP:0100634	Neuroendocrine neoplasm	1743	DLST	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	4191	MDH2	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	5979	RET	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	5979	RET	ORPHA:276621
HP:0100634	Neuroendocrine neoplasm	6389	SDHA	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	23095	KIF1B	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	2271	FH	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	8402	SLC25A11	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	54949	SDHAF2	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	55654	TMEM127	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	4763	NF1	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	6391	SDHC	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	6391	SDHC	OMIM:605373
HP:0100634	Neuroendocrine neoplasm	6390	SDHB	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	6390	SDHB	ORPHA:276621
HP:0100634	Neuroendocrine neoplasm	6390	SDHB	OMIM:115310
HP:0100634	Neuroendocrine neoplasm	4149	MAX	ORPHA:29072
HP:0100634	Neuroendocrine neoplasm	1788	DNMT3A	ORPHA:276621
HP:0100634	Neuroendocrine neoplasm	2034	EPAS1	ORPHA:276621
HP:0100634	Neuroendocrine neoplasm	595	CCND1	ORPHA:892
HP:0100634	Neuroendocrine neoplasm	389692	MAFA	OMIM:147630
HP:0100634	Neuroendocrine neoplasm	3767	KCNJ11	ORPHA:79644
HP:0100634	Neuroendocrine neoplasm	2642	GCGR	ORPHA:438274
HP:0100634	Neuroendocrine neoplasm	4000	LMNA	ORPHA:363618
HP:0100634	Neuroendocrine neoplasm	4221	MEN1	ORPHA:652
HP:0100634	Neuroendocrine neoplasm	1027	CDKN1B	ORPHA:652
HP:0100634	Neuroendocrine neoplasm	1027	CDKN1B	ORPHA:276152
HP:0100634	Neuroendocrine neoplasm	1026	CDKN1A	ORPHA:652
HP:0100634	Neuroendocrine neoplasm	1030	CDKN2B	ORPHA:652
HP:0100634	Neuroendocrine neoplasm	1031	CDKN2C	ORPHA:652
HP:0100634	Neuroendocrine neoplasm	1616	DAXX	ORPHA:100075
HP:0100634	Neuroendocrine neoplasm	546	ATRX	ORPHA:100075
HP:0100634	Neuroendocrine neoplasm	6392	SDHD	ORPHA:100093
HP:0100634	Neuroendocrine neoplasm	3458	IFNG	ORPHA:805
HP:0100634	Neuroendocrine neoplasm	7248	TSC1	ORPHA:805
HP:0100634	Neuroendocrine neoplasm	7249	TSC2	ORPHA:805
HP:0100634	Neuroendocrine neoplasm	79798	ARMC5	ORPHA:189427
HP:0100634	Neuroendocrine neoplasm	2778	GNAS	ORPHA:189427
HP:0100634	Neuroendocrine neoplasm	7528	YY1	ORPHA:97279
HP:0100635	Carotid paraganglioma	6392	SDHD	OMIM:168000
HP:0100638	Neoplasm of the pharynx	5573	PRKAR1A	ORPHA:1359
HP:0100638	Neoplasm of the pharynx	50940	PDE11A	ORPHA:1359
HP:0100639	Erectile dysfunction	1027	CDKN1B	ORPHA:652
HP:0100639	Erectile dysfunction	1026	CDKN1A	ORPHA:652
HP:0100639	Erectile dysfunction	1030	CDKN2B	ORPHA:652
HP:0100639	Erectile dysfunction	1031	CDKN2C	ORPHA:652
HP:0100639	Erectile dysfunction	26012	NSMF	ORPHA:432
HP:0100639	Erectile dysfunction	2796	GNRH1	ORPHA:432
HP:0100639	Erectile dysfunction	2798	GNRHR	ORPHA:432
HP:0100639	Erectile dysfunction	84634	KISS1R	ORPHA:432
HP:0100639	Erectile dysfunction	6866	TAC3	ORPHA:432
HP:0100639	Erectile dysfunction	3814	KISS1	ORPHA:432
HP:0100639	Erectile dysfunction	8913	CACNA1G	ORPHA:458803
HP:0100639	Erectile dysfunction	2982	GUCY1A1	OMIM:615750
HP:0100639	Erectile dysfunction	8314	BAP1	ORPHA:2495
HP:0100639	Erectile dysfunction	4771	NF2	ORPHA:2495
HP:0100639	Erectile dysfunction	6598	SMARCB1	ORPHA:2495
HP:0100639	Erectile dysfunction	5155	PDGFB	ORPHA:2495
HP:0100639	Erectile dysfunction	84231	TRAF7	ORPHA:2495
HP:0100639	Erectile dysfunction	6608	SMO	ORPHA:2495
HP:0100639	Erectile dysfunction	207	AKT1	ORPHA:2495
HP:0100639	Erectile dysfunction	5290	PIK3CA	ORPHA:2495
HP:0100639	Erectile dysfunction	7015	TERT	ORPHA:2495
HP:0100639	Erectile dysfunction	51684	SUFU	ORPHA:2495
HP:0100639	Erectile dysfunction	6605	SMARCE1	ORPHA:2495
HP:0100639	Erectile dysfunction	83550	GPR101	ORPHA:963
HP:0100639	Erectile dysfunction	7036	TFR2	OMIM:604250
HP:0100639	Erectile dysfunction	2332	FMR1	ORPHA:93256
HP:0100639	Erectile dysfunction	2332	FMR1	OMIM:300623
HP:0100639	Erectile dysfunction	7276	TTR	OMIM:105210
HP:0100639	Erectile dysfunction	7276	TTR	ORPHA:85447
HP:0100639	Erectile dysfunction	5277	PIGA	ORPHA:447
HP:0100639	Erectile dysfunction	724066	ATXN8	ORPHA:98760
HP:0100639	Erectile dysfunction	6315	ATXN8OS	ORPHA:98760
HP:0100639	Erectile dysfunction	26278	SACS	ORPHA:98
HP:0100639	Erectile dysfunction	3074	HEXB	OMIM:268800
HP:0100639	Erectile dysfunction	57817	HAMP	ORPHA:79230
HP:0100639	Erectile dysfunction	148738	HJV	ORPHA:79230
HP:0100639	Erectile dysfunction	30061	SLC40A1	OMIM:606069
HP:0100639	Erectile dysfunction	650	BMP2	OMIM:235200
HP:0100639	Erectile dysfunction	27235	COQ2	ORPHA:227510
HP:0100639	Erectile dysfunction	27235	COQ2	ORPHA:98933
HP:0100639	Erectile dysfunction	4001	LMNB1	OMIM:169500
HP:0100639	Erectile dysfunction	64072	CDH23	ORPHA:91347
HP:0100639	Erectile dysfunction	64072	CDH23	ORPHA:2965
HP:0100639	Erectile dysfunction	4221	MEN1	ORPHA:2965
HP:0100639	Erectile dysfunction	9049	AIP	ORPHA:2965
HP:0100639	Erectile dysfunction	654	BMP6	ORPHA:465508
HP:0100639	Erectile dysfunction	3077	HFE	ORPHA:465508
HP:0100639	Erectile dysfunction	367	AR	ORPHA:481
HP:0100639	Erectile dysfunction	2581	GALC	ORPHA:206448
HP:0100639	Erectile dysfunction	3662	IRF4	ORPHA:3452
HP:0100639	Erectile dysfunction	4693	NDP	ORPHA:649
HP:0100639	Erectile dysfunction	2260	FGFR1	ORPHA:478
HP:0100639	Erectile dysfunction	10371	SEMA3A	ORPHA:478
HP:0100639	Erectile dysfunction	81848	SPRY4	ORPHA:478
HP:0100639	Erectile dysfunction	23767	FLRT3	ORPHA:478
HP:0100639	Erectile dysfunction	128674	PROKR2	ORPHA:478
HP:0100639	Erectile dysfunction	79625	NDNF	ORPHA:478
HP:0100639	Erectile dysfunction	2253	FGF8	ORPHA:478
HP:0100639	Erectile dysfunction	389549	FEZF1	ORPHA:478
HP:0100639	Erectile dysfunction	1630	DCC	ORPHA:478
HP:0100639	Erectile dysfunction	3730	ANOS1	ORPHA:478
HP:0100639	Erectile dysfunction	54756	IL17RD	ORPHA:478
HP:0100639	Erectile dysfunction	6663	SOX10	ORPHA:478
HP:0100639	Erectile dysfunction	285025	CCDC141	ORPHA:478
HP:0100639	Erectile dysfunction	60675	PROK2	ORPHA:478
HP:0100639	Erectile dysfunction	55636	CHD7	ORPHA:478
HP:0100639	Erectile dysfunction	1848	DUSP6	ORPHA:478
HP:0100639	Erectile dysfunction	6870	TACR3	ORPHA:478
HP:0100639	Erectile dysfunction	55717	WDR11	ORPHA:478
HP:0100639	Erectile dysfunction	9394	HS6ST1	ORPHA:478
HP:0100639	Erectile dysfunction	8820	HESX1	ORPHA:478
HP:0100639	Erectile dysfunction	8822	FGF17	ORPHA:478
HP:0100639	Erectile dysfunction	215	ABCD1	ORPHA:139399
HP:0100639	Erectile dysfunction	3043	HBB	OMIM:603903
HP:0011103	Abnormal left ventricular outflow tract morphology	9759	HDAC4	OMIM:600430
HP:0011103	Abnormal left ventricular outflow tract morphology	7547	ZIC3	OMIM:306955
HP:0011103	Abnormal left ventricular outflow tract morphology	64135	IFIH1	OMIM:182250
HP:0011103	Abnormal left ventricular outflow tract morphology	9184	BUB3	ORPHA:1052
HP:0011103	Abnormal left ventricular outflow tract morphology	699	BUB1	ORPHA:1052
HP:0011103	Abnormal left ventricular outflow tract morphology	9702	CEP57	ORPHA:1052
HP:0011103	Abnormal left ventricular outflow tract morphology	9702	CEP57	OMIM:614114
HP:0011103	Abnormal left ventricular outflow tract morphology	9319	TRIP13	ORPHA:1052
HP:0011103	Abnormal left ventricular outflow tract morphology	701	BUB1B	ORPHA:1052
HP:0011103	Abnormal left ventricular outflow tract morphology	4624	MYH6	OMIM:192600
HP:0011103	Abnormal left ventricular outflow tract morphology	4625	MYH7	OMIM:192600
HP:0011103	Abnormal left ventricular outflow tract morphology	859	CAV3	OMIM:192600
HP:0011103	Abnormal left ventricular outflow tract morphology	85366	MYLK2	OMIM:192600
HP:0011103	Abnormal left ventricular outflow tract morphology	5781	PTPN11	OMIM:151100
HP:0011103	Abnormal left ventricular outflow tract morphology	127833	SYT2	OMIM:619461
HP:0011103	Abnormal left ventricular outflow tract morphology	23118	TAB2	OMIM:614980
HP:0011103	Abnormal left ventricular outflow tract morphology	54914	FOCAD	OMIM:619991
HP:0011103	Abnormal left ventricular outflow tract morphology	2260	FGFR1	OMIM:613001
HP:0011103	Abnormal left ventricular outflow tract morphology	9487	PIGL	OMIM:280000
HP:0011103	Abnormal left ventricular outflow tract morphology	2783	GNB2	OMIM:619503
HP:0011103	Abnormal left ventricular outflow tract morphology	1482	NKX2-5	OMIM:108900
HP:0011103	Abnormal left ventricular outflow tract morphology	171019	ADAMTS19	OMIM:620067
HP:0011103	Abnormal left ventricular outflow tract morphology	51057	WDPCP	OMIM:217085
HP:0011103	Abnormal left ventricular outflow tract morphology	51057	WDPCP	ORPHA:1338
HP:0011103	Abnormal left ventricular outflow tract morphology	79796	ALG9	ORPHA:79328
HP:0011103	Abnormal left ventricular outflow tract morphology	4851	NOTCH1	ORPHA:402075
HP:0011103	Abnormal left ventricular outflow tract morphology	140628	GATA5	ORPHA:402075
HP:0011103	Abnormal left ventricular outflow tract morphology	4091	SMAD6	ORPHA:402075
HP:0011103	Abnormal left ventricular outflow tract morphology	70	ACTC1	OMIM:612098
HP:0011104	Abnormality of blood volume homeostasis	554	AVPR2	ORPHA:223
HP:0011104	Abnormality of blood volume homeostasis	359	AQP2	ORPHA:223
HP:0011104	Abnormality of blood volume homeostasis	1583	CYP11A1	ORPHA:289548
HP:0011104	Abnormality of blood volume homeostasis	1583	CYP11A1	ORPHA:168558
HP:0011104	Abnormality of blood volume homeostasis	6809	STX3	ORPHA:2290
HP:0011104	Abnormality of blood volume homeostasis	4645	MYO5B	ORPHA:2290
HP:0011104	Abnormality of blood volume homeostasis	1497	CTNS	ORPHA:411634
HP:0011104	Abnormality of blood volume homeostasis	2492	FSHR	ORPHA:64739
HP:0011104	Abnormality of blood volume homeostasis	4629	MYH11	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	7046	TGFBR1	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	7048	TGFBR2	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4015	LOX	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4087	SMAD2	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	7043	TGFB3	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4088	SMAD3	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	7042	TGFB2	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4089	SMAD4	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	2200	FBN1	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	59	ACTA2	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	5592	PRKG1	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	2301	FOXE3	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4144	MAT2A	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	23493	HEY2	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	8076	MFAP5	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	4638	MYLK	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	2006	ELN	ORPHA:91387
HP:0011104	Abnormality of blood volume homeostasis	3767	KCNJ11	ORPHA:99885
HP:0011104	Abnormality of blood volume homeostasis	6774	STAT3	ORPHA:99885
HP:0011104	Abnormality of blood volume homeostasis	2645	GCK	ORPHA:99885
HP:0011104	Abnormality of blood volume homeostasis	3651	PDX1	ORPHA:99885
HP:0011104	Abnormality of blood volume homeostasis	6833	ABCC8	ORPHA:99885
HP:0011104	Abnormality of blood volume homeostasis	3630	INS	ORPHA:99885
HP:0011102	Ileal atresia	4659	PPP1R12A	OMIM:618820
HP:0011102	Ileal atresia	57217	TTC7A	OMIM:243150
HP:0011102	Ileal atresia	4629	MYH11	OMIM:619351
HP:0011102	Ileal atresia	29925	GMPPB	OMIM:615351
HP:0011102	Ileal atresia	129563	DIS3L2	OMIM:267000
HP:0011107	Recurrent aphthous stomatitis	114548	NLRP3	ORPHA:575
HP:0011107	Recurrent aphthous stomatitis	114548	NLRP3	OMIM:191900
HP:0011107	Recurrent aphthous stomatitis	355	FAS	ORPHA:3261
HP:0011107	Recurrent aphthous stomatitis	355	FAS	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	356	FASLG	ORPHA:3261
HP:0011107	Recurrent aphthous stomatitis	5580	PRKCD	ORPHA:3261
HP:0011107	Recurrent aphthous stomatitis	843	CASP10	ORPHA:3261
HP:0011107	Recurrent aphthous stomatitis	10125	RASGRP1	ORPHA:3261
HP:0011107	Recurrent aphthous stomatitis	64421	DCLRE1C	ORPHA:275
HP:0011107	Recurrent aphthous stomatitis	1053	CEBPE	OMIM:260570
HP:0011107	Recurrent aphthous stomatitis	54941	RNF125	OMIM:616260
HP:0011107	Recurrent aphthous stomatitis	54453	RIN2	OMIM:613075
HP:0011107	Recurrent aphthous stomatitis	84876	ORAI1	OMIM:612782
HP:0011107	Recurrent aphthous stomatitis	6097	RORC	OMIM:616622
HP:0011107	Recurrent aphthous stomatitis	84818	IL17RC	OMIM:616445
HP:0011107	Recurrent aphthous stomatitis	3117	HLA-DQA1	OMIM:212750
HP:0011107	Recurrent aphthous stomatitis	3119	HLA-DQB1	OMIM:212750
HP:0011107	Recurrent aphthous stomatitis	51311	TLR8	OMIM:301078
HP:0011107	Recurrent aphthous stomatitis	4598	MVK	ORPHA:343
HP:0011107	Recurrent aphthous stomatitis	10312	TCIRG1	ORPHA:486
HP:0011107	Recurrent aphthous stomatitis	1991	ELANE	ORPHA:486
HP:0011107	Recurrent aphthous stomatitis	2672	GFI1	ORPHA:486
HP:0011107	Recurrent aphthous stomatitis	6729	SRP54	ORPHA:486
HP:0011107	Recurrent aphthous stomatitis	81570	CLPB	ORPHA:486
HP:0011107	Recurrent aphthous stomatitis	3106	HLA-B	ORPHA:29207
HP:0011107	Recurrent aphthous stomatitis	3106	HLA-B	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	9948	WDR1	OMIM:150550
HP:0011107	Recurrent aphthous stomatitis	64127	NOD2	OMIM:266600
HP:0011107	Recurrent aphthous stomatitis	3569	IL6	OMIM:266600
HP:0011107	Recurrent aphthous stomatitis	146206	CARMIL2	OMIM:618131
HP:0011107	Recurrent aphthous stomatitis	10525	HYOU1	OMIM:233600
HP:0011107	Recurrent aphthous stomatitis	10892	MALT1	OMIM:615468
HP:0011107	Recurrent aphthous stomatitis	4689	NCF4	OMIM:613960
HP:0011107	Recurrent aphthous stomatitis	148022	TICAM1	OMIM:614850
HP:0011107	Recurrent aphthous stomatitis	5591	PRKDC	OMIM:615966
HP:0011107	Recurrent aphthous stomatitis	91662	NLRP12	OMIM:611762
HP:0011107	Recurrent aphthous stomatitis	149233	IL23R	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	6775	STAT4	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	3586	IL10	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	4210	MEFV	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	1230	CCR1	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	3592	IL12A	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	101928376	IL12A-AS1	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	7099	TLR4	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	3459	IFNGR1	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	720	C4A	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	337867	UBAC2	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	51752	ERAP1	ORPHA:117
HP:0011107	Recurrent aphthous stomatitis	8302	KLRC4	ORPHA:117
HP:0011108	Recurrent sinusitis	374407	DNAJB13	OMIM:617091
HP:0011108	Recurrent sinusitis	139212	DNAAF6	OMIM:300991
HP:0011108	Recurrent sinusitis	7840	ALMS1	ORPHA:64
HP:0011108	Recurrent sinusitis	30011	SH3KBP1	OMIM:300310
HP:0011108	Recurrent sinusitis	7454	WAS	OMIM:301000
HP:0011108	Recurrent sinusitis	4791	NFKB2	ORPHA:293978
HP:0011108	Recurrent sinusitis	4791	NFKB2	OMIM:615577
HP:0011108	Recurrent sinusitis	695	BTK	OMIM:300755
HP:0011108	Recurrent sinusitis	930	CD19	OMIM:613493
HP:0011108	Recurrent sinusitis	930	CD19	OMIM:240500
HP:0011108	Recurrent sinusitis	152110	NEK10	OMIM:618781
HP:0011108	Recurrent sinusitis	115650	TNFRSF13C	OMIM:613494
HP:0011108	Recurrent sinusitis	115650	TNFRSF13C	OMIM:240500
HP:0011108	Recurrent sinusitis	5580	PRKCD	OMIM:615559
HP:0011108	Recurrent sinusitis	27148	STK36	OMIM:619436
HP:0011108	Recurrent sinusitis	5880	RAC2	OMIM:618986
HP:0011108	Recurrent sinusitis	64446	DNAI2	OMIM:612444
HP:0011108	Recurrent sinusitis	987	LRBA	OMIM:614700
HP:0011108	Recurrent sinusitis	3426	CFI	OMIM:610984
HP:0011108	Recurrent sinusitis	54440	SASH3	OMIM:301082
HP:0011108	Recurrent sinusitis	345895	RSPH4A	OMIM:612649
HP:0011108	Recurrent sinusitis	54499	TMCO1	OMIM:213980
HP:0011108	Recurrent sinusitis	9094	UNC119	OMIM:615518
HP:0011108	Recurrent sinusitis	79650	USB1	OMIM:604173
HP:0011108	Recurrent sinusitis	5293	PIK3CD	OMIM:619281
HP:0011108	Recurrent sinusitis	3507	IGHM	OMIM:601495
HP:0011108	Recurrent sinusitis	54768	HYDIN	OMIM:608647
HP:0011108	Recurrent sinusitis	89765	RSPH1	OMIM:615481
HP:0011108	Recurrent sinusitis	161582	DNAAF4	OMIM:615482
HP:0011108	Recurrent sinusitis	1289	COL5A1	OMIM:130000
HP:0011108	Recurrent sinusitis	4256	MGP	ORPHA:85202
HP:0011108	Recurrent sinusitis	6813	STXBP2	OMIM:613101
HP:0011108	Recurrent sinusitis	51816	ADA2	OMIM:615688
HP:0011108	Recurrent sinusitis	54919	DNAAF5	OMIM:614874
HP:0011108	Recurrent sinusitis	4790	NFKB1	OMIM:616576
HP:0011108	Recurrent sinusitis	51364	ZMYND10	OMIM:615444
HP:0011108	Recurrent sinusitis	50615	IL21R	OMIM:615207
HP:0011108	Recurrent sinusitis	1767	DNAH5	OMIM:608644
HP:0011108	Recurrent sinusitis	85452	CFAP74	OMIM:620197
HP:0011108	Recurrent sinusitis	8382	NME5	OMIM:620032
HP:0011108	Recurrent sinusitis	29851	ICOS	OMIM:607594
HP:0011108	Recurrent sinusitis	29851	ICOS	OMIM:240500
HP:0011108	Recurrent sinusitis	84905	ZNF341	OMIM:618282
HP:0011108	Recurrent sinusitis	54	ACP5	OMIM:607944
HP:0011108	Recurrent sinusitis	23495	TNFRSF13B	OMIM:240500
HP:0011108	Recurrent sinusitis	1380	CR2	OMIM:240500
HP:0011108	Recurrent sinusitis	84061	MAGT1	OMIM:300853
HP:0011108	Recurrent sinusitis	123872	DNAAF1	OMIM:613193
HP:0011108	Recurrent sinusitis	1290	COL5A2	OMIM:130010
HP:0011108	Recurrent sinusitis	55130	ODAD2	OMIM:615451
HP:0011108	Recurrent sinusitis	10625	IVNS1ABP	OMIM:618969
HP:0011108	Recurrent sinusitis	4194	MDM4	OMIM:618849
HP:0011108	Recurrent sinusitis	3551	IKBKB	OMIM:618204
HP:0011108	Recurrent sinusitis	23765	IL17RA	OMIM:613953
HP:0011108	Recurrent sinusitis	246176	GAS2L2	OMIM:618449
HP:0011108	Recurrent sinusitis	6899	TBX1	OMIM:188400
HP:0011108	Recurrent sinusitis	81704	DOCK8	OMIM:243700
HP:0011108	Recurrent sinusitis	81704	DOCK8	ORPHA:217390
HP:0011108	Recurrent sinusitis	345643	MCIDAS	OMIM:618695
HP:0011108	Recurrent sinusitis	93233	ODAD1	OMIM:615067
HP:0011108	Recurrent sinusitis	56683	CFAP298	OMIM:615500
HP:0011108	Recurrent sinusitis	721	C4B	OMIM:614379
HP:0011108	Recurrent sinusitis	359948	IRF2BP2	OMIM:617765
HP:0011108	Recurrent sinusitis	4689	NCF4	OMIM:613960
HP:0011108	Recurrent sinusitis	6688	SPI1	OMIM:619707
HP:0011108	Recurrent sinusitis	85478	CCDC65	OMIM:615504
HP:0011108	Recurrent sinusitis	6674	SPAG1	OMIM:615505
HP:0011108	Recurrent sinusitis	51314	NME8	OMIM:610852
HP:0011108	Recurrent sinusitis	5696	PSMB8	OMIM:256040
HP:0011108	Recurrent sinusitis	2214	FCGR3A	OMIM:615707
HP:0011108	Recurrent sinusitis	165918	RNF168	ORPHA:420741
HP:0011108	Recurrent sinusitis	23639	DNAAF11	OMIM:614935
HP:0011108	Recurrent sinusitis	55172	DNAAF2	OMIM:612518
HP:0011109	Chronic sinusitis	27019	DNAI1	OMIM:244400
HP:0011109	Chronic sinusitis	27019	DNAI1	ORPHA:244
HP:0011109	Chronic sinusitis	85016	CFAP300	OMIM:618063
HP:0011109	Chronic sinusitis	85016	CFAP300	ORPHA:244
HP:0011109	Chronic sinusitis	2212	FCGR2A	OMIM:219700
HP:0011109	Chronic sinusitis	7040	TGFB1	OMIM:219700
HP:0011109	Chronic sinusitis	1080	CFTR	OMIM:219700
HP:0011109	Chronic sinusitis	83538	ODAD4	OMIM:617092
HP:0011109	Chronic sinusitis	83538	ODAD4	ORPHA:244
HP:0011109	Chronic sinusitis	92749	DRC1	OMIM:615294
HP:0011109	Chronic sinusitis	92749	DRC1	ORPHA:244
HP:0011109	Chronic sinusitis	1770	DNAH9	OMIM:618300
HP:0011109	Chronic sinusitis	1770	DNAH9	ORPHA:244
HP:0011109	Chronic sinusitis	4256	MGP	OMIM:245150
HP:0011109	Chronic sinusitis	83861	RSPH3	OMIM:616481
HP:0011109	Chronic sinusitis	83861	RSPH3	ORPHA:244
HP:0011109	Chronic sinusitis	6103	RPGR	OMIM:300455
HP:0011109	Chronic sinusitis	6103	RPGR	ORPHA:244
HP:0011109	Chronic sinusitis	79848	CSPP1	OMIM:615636
HP:0011109	Chronic sinusitis	5238	PGM3	ORPHA:443811
HP:0011109	Chronic sinusitis	64446	DNAI2	OMIM:612444
HP:0011109	Chronic sinusitis	64446	DNAI2	ORPHA:244
HP:0011109	Chronic sinusitis	6890	TAP1	OMIM:604571
HP:0011109	Chronic sinusitis	6891	TAP2	OMIM:604571
HP:0011109	Chronic sinusitis	6892	TAPBP	OMIM:604571
HP:0011109	Chronic sinusitis	54440	SASH3	OMIM:301082
HP:0011109	Chronic sinusitis	3514	IGKC	ORPHA:183675
HP:0011109	Chronic sinusitis	3501	IGHG2	ORPHA:183675
HP:0011109	Chronic sinusitis	3981	LIG4	OMIM:606593
HP:0011109	Chronic sinusitis	25981	DNAH1	ORPHA:244
HP:0011109	Chronic sinusitis	115948	ODAD3	ORPHA:244
HP:0011109	Chronic sinusitis	115948	ODAD3	OMIM:616037
HP:0011109	Chronic sinusitis	54768	HYDIN	ORPHA:244
HP:0011109	Chronic sinusitis	352909	DNAAF3	ORPHA:244
HP:0011109	Chronic sinusitis	27148	STK36	ORPHA:244
HP:0011109	Chronic sinusitis	51314	NME8	ORPHA:244
HP:0011109	Chronic sinusitis	54970	TTC12	ORPHA:244
HP:0011109	Chronic sinusitis	152110	NEK10	ORPHA:244
HP:0011109	Chronic sinusitis	8481	OFD1	ORPHA:244
HP:0011109	Chronic sinusitis	2302	FOXJ1	ORPHA:244
HP:0011109	Chronic sinusitis	2302	FOXJ1	OMIM:618699
HP:0011109	Chronic sinusitis	221421	RSPH9	ORPHA:244
HP:0011109	Chronic sinusitis	221421	RSPH9	OMIM:612650
HP:0011109	Chronic sinusitis	85478	CCDC65	ORPHA:244
HP:0011109	Chronic sinusitis	85478	CCDC65	OMIM:615504
HP:0011109	Chronic sinusitis	55036	CCDC40	ORPHA:244
HP:0011109	Chronic sinusitis	55036	CCDC40	OMIM:613808
HP:0011109	Chronic sinusitis	51364	ZMYND10	ORPHA:244
HP:0011109	Chronic sinusitis	6674	SPAG1	ORPHA:244
HP:0011109	Chronic sinusitis	83544	DNAL1	ORPHA:244
HP:0011109	Chronic sinusitis	83544	DNAL1	OMIM:614017
HP:0011109	Chronic sinusitis	89765	RSPH1	ORPHA:244
HP:0011109	Chronic sinusitis	200373	CFAP221	ORPHA:244
HP:0011109	Chronic sinusitis	374407	DNAJB13	ORPHA:244
HP:0011109	Chronic sinusitis	55172	DNAAF2	ORPHA:244
HP:0011109	Chronic sinusitis	55172	DNAAF2	OMIM:612518
HP:0011109	Chronic sinusitis	161582	DNAAF4	ORPHA:244
HP:0011109	Chronic sinusitis	2622	GAS8	ORPHA:244
HP:0011109	Chronic sinusitis	23639	DNAAF11	ORPHA:244
HP:0011109	Chronic sinusitis	345895	RSPH4A	ORPHA:244
HP:0011109	Chronic sinusitis	54919	DNAAF5	ORPHA:244
HP:0011109	Chronic sinusitis	388389	CCDC103	ORPHA:244
HP:0011109	Chronic sinusitis	388389	CCDC103	OMIM:614679
HP:0011109	Chronic sinusitis	93233	ODAD1	ORPHA:244
HP:0011109	Chronic sinusitis	55130	ODAD2	ORPHA:244
HP:0011109	Chronic sinusitis	1767	DNAH5	ORPHA:244
HP:0011109	Chronic sinusitis	345643	MCIDAS	ORPHA:244
HP:0011109	Chronic sinusitis	56683	CFAP298	ORPHA:244
HP:0011109	Chronic sinusitis	79925	SPEF2	ORPHA:244
HP:0011109	Chronic sinusitis	10309	CCNO	ORPHA:244
HP:0011109	Chronic sinusitis	115399	LRRC56	ORPHA:244
HP:0011109	Chronic sinusitis	139212	DNAAF6	ORPHA:244
HP:0011109	Chronic sinusitis	123872	DNAAF1	ORPHA:244
HP:0011109	Chronic sinusitis	339829	CCDC39	ORPHA:244
HP:0011109	Chronic sinusitis	339829	CCDC39	OMIM:613807
HP:0011109	Chronic sinusitis	8701	DNAH11	ORPHA:244
HP:0011109	Chronic sinusitis	246176	GAS2L2	ORPHA:244
HP:0011109	Chronic sinusitis	974	CD79B	OMIM:612692
HP:0011109	Chronic sinusitis	146845	CFAP52	OMIM:619607
HP:0011109	Chronic sinusitis	25790	CFAP45	OMIM:619608
HP:0011109	Chronic sinusitis	29760	BLNK	OMIM:613502
HP:0011109	Chronic sinusitis	165918	RNF168	ORPHA:420741
HP:0011106	Hypovolemia	554	AVPR2	ORPHA:223
HP:0011106	Hypovolemia	359	AQP2	ORPHA:223
HP:0011106	Hypovolemia	1583	CYP11A1	ORPHA:289548
HP:0011106	Hypovolemia	1583	CYP11A1	ORPHA:168558
HP:0011106	Hypovolemia	6809	STX3	ORPHA:2290
HP:0011106	Hypovolemia	4645	MYO5B	ORPHA:2290
HP:0011106	Hypovolemia	1497	CTNS	ORPHA:411634
HP:0011106	Hypovolemia	2492	FSHR	ORPHA:64739
HP:0011106	Hypovolemia	4629	MYH11	ORPHA:91387
HP:0011106	Hypovolemia	7046	TGFBR1	ORPHA:91387
HP:0011106	Hypovolemia	7048	TGFBR2	ORPHA:91387
HP:0011106	Hypovolemia	4015	LOX	ORPHA:91387
HP:0011106	Hypovolemia	4087	SMAD2	ORPHA:91387
HP:0011106	Hypovolemia	7043	TGFB3	ORPHA:91387
HP:0011106	Hypovolemia	4088	SMAD3	ORPHA:91387
HP:0011106	Hypovolemia	7042	TGFB2	ORPHA:91387
HP:0011106	Hypovolemia	4089	SMAD4	ORPHA:91387
HP:0011106	Hypovolemia	2200	FBN1	ORPHA:91387
HP:0011106	Hypovolemia	59	ACTA2	ORPHA:91387
HP:0011106	Hypovolemia	5592	PRKG1	ORPHA:91387
HP:0011106	Hypovolemia	2301	FOXE3	ORPHA:91387
HP:0011106	Hypovolemia	4144	MAT2A	ORPHA:91387
HP:0011106	Hypovolemia	23493	HEY2	ORPHA:91387
HP:0011106	Hypovolemia	8076	MFAP5	ORPHA:91387
HP:0011106	Hypovolemia	4638	MYLK	ORPHA:91387
HP:0011106	Hypovolemia	2006	ELN	ORPHA:91387
HP:0011106	Hypovolemia	3767	KCNJ11	ORPHA:99885
HP:0011106	Hypovolemia	6774	STAT3	ORPHA:99885
HP:0011106	Hypovolemia	2645	GCK	ORPHA:99885
HP:0011106	Hypovolemia	3651	PDX1	ORPHA:99885
HP:0011106	Hypovolemia	6833	ABCC8	ORPHA:99885
HP:0011106	Hypovolemia	3630	INS	ORPHA:99885
HP:0011100	Intestinal atresia	2188	FANCF	OMIM:603467
HP:0011100	Intestinal atresia	7547	ZIC3	OMIM:306955
HP:0011100	Intestinal atresia	2260	FGFR1	ORPHA:280200
HP:0011100	Intestinal atresia	28514	DLL1	ORPHA:280200
HP:0011100	Intestinal atresia	2253	FGF8	ORPHA:280200
HP:0011100	Intestinal atresia	6496	SIX3	ORPHA:280200
HP:0011100	Intestinal atresia	7050	TGIF1	ORPHA:280200
HP:0011100	Intestinal atresia	4838	NODAL	ORPHA:280200
HP:0011100	Intestinal atresia	4838	NODAL	OMIM:270100
HP:0011100	Intestinal atresia	6469	SHH	ORPHA:280200
HP:0011100	Intestinal atresia	51684	SUFU	ORPHA:280200
HP:0011100	Intestinal atresia	7546	ZIC2	ORPHA:280200
HP:0011100	Intestinal atresia	2619	GAS1	ORPHA:280200
HP:0011100	Intestinal atresia	84976	DISP1	ORPHA:280200
HP:0011100	Intestinal atresia	2736	GLI2	ORPHA:280200
HP:0011100	Intestinal atresia	8928	FOXH1	ORPHA:280200
HP:0011100	Intestinal atresia	5727	PTCH1	ORPHA:280200
HP:0011100	Intestinal atresia	50937	CDON	ORPHA:280200
HP:0011100	Intestinal atresia	2294	FOXF1	OMIM:265380
HP:0011100	Intestinal atresia	10735	STAG2	OMIM:301043
HP:0011100	Intestinal atresia	64840	PORCN	ORPHA:2092
HP:0011100	Intestinal atresia	2187	FANCB	OMIM:300514
HP:0011100	Intestinal atresia	51780	KDM3B	OMIM:618846
HP:0011100	Intestinal atresia	815	CAMK2A	OMIM:617798
HP:0011100	Intestinal atresia	23556	PIGN	ORPHA:2059
HP:0011100	Intestinal atresia	25914	RTTN	ORPHA:468631
HP:0011100	Intestinal atresia	1859	DYRK1A	ORPHA:464311
HP:0011100	Intestinal atresia	701	BUB1B	OMIM:257300
HP:0011100	Intestinal atresia	701	BUB1B	ORPHA:1052
HP:0011100	Intestinal atresia	6299	SALL1	OMIM:107480
HP:0011100	Intestinal atresia	9184	BUB3	ORPHA:1052
HP:0011100	Intestinal atresia	699	BUB1	ORPHA:1052
HP:0011100	Intestinal atresia	9702	CEP57	ORPHA:1052
HP:0011100	Intestinal atresia	9702	CEP57	OMIM:614114
HP:0011100	Intestinal atresia	9319	TRIP13	ORPHA:1052
HP:0011100	Intestinal atresia	55159	RFWD3	OMIM:617784
HP:0011100	Intestinal atresia	473	RERE	OMIM:616975
HP:0011100	Intestinal atresia	25790	CFAP45	OMIM:619608
HP:0011100	Intestinal atresia	51729	WBP11	OMIM:619227
HP:0011100	Intestinal atresia	55636	CHD7	OMIM:214800
HP:0011100	Intestinal atresia	2313	FLI1	ORPHA:2308
HP:0011100	Intestinal atresia	2201	FBN2	ORPHA:115
HP:0011100	Intestinal atresia	4613	MYCN	ORPHA:391641
HP:0011100	Intestinal atresia	4613	MYCN	OMIM:164280
HP:0011100	Intestinal atresia	374879	ZNF699	OMIM:619488
HP:0011100	Intestinal atresia	222546	RFX6	OMIM:615710
HP:0011100	Intestinal atresia	4659	PPP1R12A	OMIM:618820
HP:0011100	Intestinal atresia	1063	CENPF	OMIM:243605
HP:0011100	Intestinal atresia	1174	AP1S1	OMIM:609313
HP:0011100	Intestinal atresia	407975	MIR17HG	ORPHA:391646
HP:0011100	Intestinal atresia	8604	SLC25A12	OMIM:612949
HP:0011100	Intestinal atresia	1349	COX7B	OMIM:309801
HP:0011100	Intestinal atresia	3052	HCCS	OMIM:309801
HP:0011100	Intestinal atresia	54539	NDUFB11	OMIM:309801
HP:0011100	Intestinal atresia	3655	ITGA6	ORPHA:79403
HP:0011100	Intestinal atresia	3691	ITGB4	ORPHA:79403
HP:0011100	Intestinal atresia	25942	SIN3A	ORPHA:94065
HP:0011100	Intestinal atresia	6651	SON	OMIM:617140
HP:0011100	Intestinal atresia	79827	CLMP	OMIM:615237
HP:0011100	Intestinal atresia	11005	SPINK5	OMIM:256500
HP:0011100	Intestinal atresia	5297	PI4KA	ORPHA:436252
HP:0011100	Intestinal atresia	5297	PI4KA	OMIM:619708
HP:0011100	Intestinal atresia	1131	CHRM3	ORPHA:2970
HP:0011100	Intestinal atresia	4629	MYH11	OMIM:619351
HP:0011100	Intestinal atresia	29925	GMPPB	OMIM:615351
HP:0011100	Intestinal atresia	341640	FREM2	OMIM:617666
HP:0011100	Intestinal atresia	5889	RAD51C	OMIM:613390
HP:0011100	Intestinal atresia	57217	TTC7A	OMIM:243150
HP:0011100	Intestinal atresia	26123	TCTN3	ORPHA:2753
HP:0011100	Intestinal atresia	129563	DIS3L2	OMIM:267000
HP:0005688	Dysplastic distal thumb phalanges with a central hole	2737	GLI3	OMIM:174700
HP:0005686	Patchy osteosclerosis	6905	TBCE	ORPHA:2323
HP:0005686	Patchy osteosclerosis	6905	TBCE	OMIM:241410
HP:0005686	Patchy osteosclerosis	8878	SQSTM1	OMIM:167250
HP:0005686	Patchy osteosclerosis	4507	MTAP	OMIM:112250
HP:0005686	Patchy osteosclerosis	2697	GJA1	OMIM:218400
HP:0005692	Joint hyperflexibility	7337	UBE3A	ORPHA:238446
HP:0005692	Joint hyperflexibility	9871	SEC24D	ORPHA:2050
HP:0005692	Joint hyperflexibility	5034	P4HB	ORPHA:2050
HP:0005692	Joint hyperflexibility	7148	TNXB	ORPHA:230839
HP:0005692	Joint hyperflexibility	1947	EFNB1	ORPHA:1520
HP:0005692	Joint hyperflexibility	9820	CUL7	ORPHA:2616
HP:0005692	Joint hyperflexibility	23363	OBSL1	ORPHA:2616
HP:0005692	Joint hyperflexibility	83987	CCDC8	ORPHA:2616
HP:0005692	Joint hyperflexibility	9759	HDAC4	ORPHA:1001
HP:0005692	Joint hyperflexibility	2261	FGFR3	ORPHA:93274
HP:0005692	Joint hyperflexibility	2261	FGFR3	ORPHA:429
HP:0005692	Joint hyperflexibility	23118	TAB2	ORPHA:228410
HP:0005692	Joint hyperflexibility	6535	SLC6A8	ORPHA:52503
HP:0005692	Joint hyperflexibility	613	BCR	ORPHA:261330
HP:0005692	Joint hyperflexibility	1399	CRKL	ORPHA:261330
HP:0005692	Joint hyperflexibility	5594	MAPK1	ORPHA:261330
HP:0005692	Joint hyperflexibility	8239	USP9X	OMIM:300919
HP:0005692	Joint hyperflexibility	23314	SATB2	ORPHA:251019
HP:0005692	Joint hyperflexibility	5076	PAX2	ORPHA:1475
HP:0005692	Joint hyperflexibility	8085	KMT2D	ORPHA:2322
HP:0005692	Joint hyperflexibility	7403	KDM6A	ORPHA:2322
HP:0005692	Joint hyperflexibility	5744	PTHLH	ORPHA:93387
HP:0005692	Joint hyperflexibility	3239	HOXD13	ORPHA:93387
HP:0005692	Joint hyperflexibility	57539	WDR35	ORPHA:1515
HP:0005692	Joint hyperflexibility	112752	IFT43	ORPHA:1515
HP:0005692	Joint hyperflexibility	51098	IFT52	ORPHA:1515
HP:0005692	Joint hyperflexibility	55764	IFT122	ORPHA:1515
HP:0005692	Joint hyperflexibility	57728	WDR19	ORPHA:1515
HP:0005692	Joint hyperflexibility	51114	ZDHHC9	ORPHA:776
HP:0005692	Joint hyperflexibility	65109	UPF3B	ORPHA:776
HP:0005692	Joint hyperflexibility	9968	MED12	ORPHA:776
HP:0005692	Joint hyperflexibility	4952	OCRL	ORPHA:534
HP:0005692	Joint hyperflexibility	137492	VPS37A	ORPHA:319199
HP:0005692	Joint hyperflexibility	137492	VPS37A	OMIM:614898
HP:0005692	Joint hyperflexibility	6023	RMRP	ORPHA:175
HP:0005692	Joint hyperflexibility	716	C1S	ORPHA:75392
HP:0005692	Joint hyperflexibility	715	C1R	ORPHA:75392
HP:0005692	Joint hyperflexibility	10484	SEC23A	ORPHA:50814
HP:0005692	Joint hyperflexibility	8200	GDF5	ORPHA:63442
HP:0005692	Joint hyperflexibility	6774	STAT3	ORPHA:2314
HP:0005692	Joint hyperflexibility	9719	ADAMTSL2	ORPHA:1901
HP:0005692	Joint hyperflexibility	9509	ADAMTS2	ORPHA:1901
HP:0005692	Joint hyperflexibility	5351	PLOD1	ORPHA:1900
HP:0005692	Joint hyperflexibility	1312	COMT	ORPHA:567
HP:0005692	Joint hyperflexibility	221037	JMJD1C	ORPHA:567
HP:0005692	Joint hyperflexibility	2812	GP1BB	ORPHA:567
HP:0005692	Joint hyperflexibility	6239	RREB1	ORPHA:567
HP:0005692	Joint hyperflexibility	6899	TBX1	ORPHA:567
HP:0005692	Joint hyperflexibility	7290	HIRA	ORPHA:567
HP:0005692	Joint hyperflexibility	9632	SEC24C	ORPHA:567
HP:0005692	Joint hyperflexibility	7353	UFD1	ORPHA:567
HP:0005692	Joint hyperflexibility	421	ARVCF	ORPHA:567
HP:0005692	Joint hyperflexibility	81620	CDT1	ORPHA:2554
HP:0005692	Joint hyperflexibility	5000	ORC4	ORPHA:2554
HP:0005692	Joint hyperflexibility	23594	ORC6	ORPHA:2554
HP:0005692	Joint hyperflexibility	8318	CDC45	ORPHA:2554
HP:0005692	Joint hyperflexibility	990	CDC6	ORPHA:2554
HP:0005692	Joint hyperflexibility	4998	ORC1	ORPHA:2554
HP:0005692	Joint hyperflexibility	51053	GMNN	ORPHA:2554
HP:0005692	Joint hyperflexibility	64093	SMOC1	ORPHA:1106
HP:0005692	Joint hyperflexibility	538	ATP7A	ORPHA:565
HP:0005692	Joint hyperflexibility	538	ATP7A	ORPHA:198
HP:0005692	Joint hyperflexibility	3265	HRAS	ORPHA:3071
HP:0005692	Joint hyperflexibility	1281	COL3A1	ORPHA:286
HP:0005692	Joint hyperflexibility	1281	COL3A1	ORPHA:2500
HP:0005692	Joint hyperflexibility	4784	NFIX	ORPHA:561
HP:0005692	Joint hyperflexibility	1501	CTNND2	ORPHA:281
HP:0005692	Joint hyperflexibility	9037	SEMA5A	ORPHA:281
HP:0005692	Joint hyperflexibility	1280	COL2A1	ORPHA:90653
HP:0005692	Joint hyperflexibility	4854	NOTCH3	ORPHA:2789
HP:0005692	Joint hyperflexibility	80781	COL18A1	ORPHA:1571
HP:0005692	Joint hyperflexibility	5062	PAK2	ORPHA:1571
HP:0005692	Joint hyperflexibility	64132	XYLT2	ORPHA:85194
HP:0005692	Joint hyperflexibility	3930	LBR	OMIM:618019
HP:0005692	Joint hyperflexibility	4853	NOTCH2	ORPHA:955
HP:0005692	Joint hyperflexibility	9361	LONP1	ORPHA:1458
HP:0005692	Joint hyperflexibility	11285	B4GALT7	ORPHA:75496
HP:0005692	Joint hyperflexibility	2316	FLNA	ORPHA:75497
HP:0005692	Joint hyperflexibility	2316	FLNA	ORPHA:2484
HP:0005692	Joint hyperflexibility	3981	LIG4	ORPHA:235
HP:0005692	Joint hyperflexibility	54888	NSUN2	ORPHA:235
HP:0005692	Joint hyperflexibility	9321	TRIP11	ORPHA:166272
HP:0005692	Joint hyperflexibility	6197	RPS6KA3	ORPHA:192
HP:0005692	Joint hyperflexibility	157680	VPS13B	ORPHA:193
HP:0005692	Joint hyperflexibility	9791	PTDSS1	ORPHA:2658
HP:0005692	Joint hyperflexibility	5290	PIK3CA	ORPHA:60040
HP:0005692	Joint hyperflexibility	6804	STX1A	ORPHA:904
HP:0005692	Joint hyperflexibility	7461	CLIP2	ORPHA:904
HP:0005692	Joint hyperflexibility	84277	DNAJC30	ORPHA:904
HP:0005692	Joint hyperflexibility	8468	FKBP6	ORPHA:904
HP:0005692	Joint hyperflexibility	5982	RFC2	ORPHA:904
HP:0005692	Joint hyperflexibility	2969	GTF2I	ORPHA:904
HP:0005692	Joint hyperflexibility	3984	LIMK1	ORPHA:904
HP:0005692	Joint hyperflexibility	9569	GTF2IRD1	ORPHA:904
HP:0005692	Joint hyperflexibility	155382	VPS37D	ORPHA:904
HP:0005692	Joint hyperflexibility	155368	METTL27	ORPHA:904
HP:0005692	Joint hyperflexibility	114049	BUD23	ORPHA:904
HP:0005692	Joint hyperflexibility	7458	EIF4H	ORPHA:904
HP:0005692	Joint hyperflexibility	84163	GTF2IRD2	ORPHA:904
HP:0005692	Joint hyperflexibility	9275	BCL7B	ORPHA:904
HP:0005692	Joint hyperflexibility	26608	TBL2	ORPHA:904
HP:0005692	Joint hyperflexibility	653361	NCF1	ORPHA:904
HP:0005692	Joint hyperflexibility	135886	TMEM270	ORPHA:904
HP:0005692	Joint hyperflexibility	51085	MLXIPL	ORPHA:904
HP:0005692	Joint hyperflexibility	9031	BAZ1B	ORPHA:904
HP:0005692	Joint hyperflexibility	2006	ELN	ORPHA:904
HP:0005692	Joint hyperflexibility	5728	PTEN	ORPHA:109
HP:0005692	Joint hyperflexibility	81031	SLC2A10	ORPHA:3342
HP:0005692	Joint hyperflexibility	1836	SLC26A2	ORPHA:628
HP:0005692	Joint hyperflexibility	6928	HNF1B	ORPHA:93111
HP:0005692	Joint hyperflexibility	8936	WASF1	OMIM:618707
HP:0005692	Joint hyperflexibility	2317	FLNB	ORPHA:503
HP:0005692	Joint hyperflexibility	2131	EXT1	ORPHA:502
HP:0005692	Joint hyperflexibility	7227	TRPS1	ORPHA:502
HP:0005692	Joint hyperflexibility	6261	RYR1	ORPHA:178145
HP:0005692	Joint hyperflexibility	8450	CUL4B	ORPHA:85293
HP:0005692	Joint hyperflexibility	11107	PRDM5	ORPHA:90354
HP:0005692	Joint hyperflexibility	84627	ZNF469	ORPHA:90354
HP:0005692	Joint hyperflexibility	5295	PIK3R1	ORPHA:3163
HP:0005692	Joint hyperflexibility	4000	LMNA	ORPHA:157973
HP:0005692	Joint hyperflexibility	10479	SLC9A6	ORPHA:85278
HP:0005692	Joint hyperflexibility	23483	TGDS	ORPHA:1388
HP:0005692	Joint hyperflexibility	5116	PCNT	ORPHA:2637
HP:0005692	Joint hyperflexibility	5116	PCNT	ORPHA:808
HP:0005692	Joint hyperflexibility	92344	GORAB	ORPHA:2078
HP:0005692	Joint hyperflexibility	5831	PYCR1	ORPHA:2078
HP:0005692	Joint hyperflexibility	545	ATR	ORPHA:808
HP:0005692	Joint hyperflexibility	1062	CENPE	ORPHA:808
HP:0005692	Joint hyperflexibility	5932	RBBP8	ORPHA:808
HP:0005692	Joint hyperflexibility	79902	NUP85	ORPHA:808
HP:0005692	Joint hyperflexibility	84126	ATRIP	ORPHA:808
HP:0005692	Joint hyperflexibility	55835	CENPJ	ORPHA:808
HP:0005692	Joint hyperflexibility	10293	TRAIP	ORPHA:808
HP:0005692	Joint hyperflexibility	22995	CEP152	ORPHA:808
HP:0005692	Joint hyperflexibility	10733	PLK4	ORPHA:808
HP:0005692	Joint hyperflexibility	22800	RRAS2	ORPHA:648
HP:0005692	Joint hyperflexibility	867	CBL	ORPHA:648
HP:0005692	Joint hyperflexibility	8216	LZTR1	ORPHA:648
HP:0005692	Joint hyperflexibility	6016	RIT1	ORPHA:648
HP:0005692	Joint hyperflexibility	6237	RRAS	ORPHA:648
HP:0005692	Joint hyperflexibility	5894	RAF1	ORPHA:648
HP:0005692	Joint hyperflexibility	22808	MRAS	ORPHA:648
HP:0005692	Joint hyperflexibility	3845	KRAS	ORPHA:648
HP:0005692	Joint hyperflexibility	200734	SPRED2	ORPHA:648
HP:0005692	Joint hyperflexibility	4893	NRAS	ORPHA:648
HP:0005692	Joint hyperflexibility	6654	SOS1	ORPHA:648
HP:0005692	Joint hyperflexibility	6655	SOS2	ORPHA:648
HP:0005692	Joint hyperflexibility	5781	PTPN11	ORPHA:648
HP:0005692	Joint hyperflexibility	5922	RASA2	ORPHA:648
HP:0005692	Joint hyperflexibility	4882	NPR2	ORPHA:40
HP:0005692	Joint hyperflexibility	23522	KAT6B	ORPHA:3047
HP:0005692	Joint hyperflexibility	5832	ALDH18A1	ORPHA:35664
HP:0005692	Joint hyperflexibility	84295	PHF6	ORPHA:127
HP:0005692	Joint hyperflexibility	64131	XYLT1	ORPHA:1425
HP:0005692	Joint hyperflexibility	124583	CANT1	ORPHA:1425
HP:0005692	Joint hyperflexibility	55790	CSGALNACT1	ORPHA:1425
HP:0005692	Joint hyperflexibility	64324	NSD1	ORPHA:3447
HP:0005692	Joint hyperflexibility	8726	EED	ORPHA:3447
HP:0005692	Joint hyperflexibility	23512	SUZ12	ORPHA:3447
HP:0005692	Joint hyperflexibility	2146	EZH2	ORPHA:3447
HP:0005692	Joint hyperflexibility	5727	PTCH1	ORPHA:77301
HP:0005692	Joint hyperflexibility	7046	TGFBR1	ORPHA:60030
HP:0005692	Joint hyperflexibility	10526	IPO8	ORPHA:60030
HP:0005692	Joint hyperflexibility	7048	TGFBR2	ORPHA:60030
HP:0005692	Joint hyperflexibility	1301	COL11A1	ORPHA:250984
HP:0005692	Joint hyperflexibility	1297	COL9A1	ORPHA:250984
HP:0005692	Joint hyperflexibility	1298	COL9A2	ORPHA:250984
HP:0005692	Joint hyperflexibility	1299	COL9A3	ORPHA:250984
HP:0005692	Joint hyperflexibility	84695	LOXL3	ORPHA:250984
HP:0005692	Joint hyperflexibility	2245	FGD1	ORPHA:915
HP:0005692	Joint hyperflexibility	84168	ANTXR1	ORPHA:2067
HP:0005692	Joint hyperflexibility	2200	FBN1	ORPHA:2462
HP:0005692	Joint hyperflexibility	6497	SKI	ORPHA:2462
HP:0005692	Joint hyperflexibility	5167	ENPP1	ORPHA:758
HP:0005692	Joint hyperflexibility	368	ABCC6	ORPHA:758
HP:0005692	Joint hyperflexibility	7042	TGFB2	OMIM:614816
HP:0005692	Joint hyperflexibility	1278	COL1A2	ORPHA:1899
HP:0005692	Joint hyperflexibility	1277	COL1A1	ORPHA:1899
HP:0004570	Increased vertebral height	59341	TRPV4	ORPHA:93304
HP:0004570	Increased vertebral height	2261	FGFR3	OMIM:610474
HP:0004570	Increased vertebral height	9820	CUL7	ORPHA:2616
HP:0004570	Increased vertebral height	9820	CUL7	OMIM:273750
HP:0004570	Increased vertebral height	23363	OBSL1	ORPHA:2616
HP:0004570	Increased vertebral height	83987	CCDC8	ORPHA:2616
HP:0004570	Increased vertebral height	83987	CCDC8	OMIM:614205
HP:0004570	Increased vertebral height	84919	PPP1R15B	OMIM:616817
HP:0004570	Increased vertebral height	4125	MAN2B1	OMIM:248500
HP:0004570	Increased vertebral height	83737	ITCH	OMIM:613385
HP:0004570	Increased vertebral height	4853	NOTCH2	OMIM:102500
HP:0100641	Neoplasm of the adrenal cortex	7157	TP53	OMIM:151623
HP:0100641	Neoplasm of the adrenal cortex	7157	TP53	OMIM:202300
HP:0100641	Neoplasm of the adrenal cortex	7157	TP53	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	7157	TP53	ORPHA:524
HP:0100641	Neoplasm of the adrenal cortex	1026	CDKN1A	ORPHA:652
HP:0100641	Neoplasm of the adrenal cortex	1030	CDKN2B	ORPHA:652
HP:0100641	Neoplasm of the adrenal cortex	1031	CDKN2C	ORPHA:652
HP:0100641	Neoplasm of the adrenal cortex	1028	CDKN1C	OMIM:130650
HP:0100641	Neoplasm of the adrenal cortex	10984	KCNQ1OT1	OMIM:130650
HP:0100641	Neoplasm of the adrenal cortex	3481	IGF2	OMIM:130650
HP:0100641	Neoplasm of the adrenal cortex	3784	KCNQ1	OMIM:130650
HP:0100641	Neoplasm of the adrenal cortex	84133	ZNRF3	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	5573	PRKAR1A	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	1499	CTNNB1	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	1029	CDKN2A	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	1029	CDKN2A	ORPHA:524
HP:0100641	Neoplasm of the adrenal cortex	7015	TERT	ORPHA:1501
HP:0100641	Neoplasm of the adrenal cortex	4193	MDM2	ORPHA:524
HP:0100641	Neoplasm of the adrenal cortex	11200	CHEK2	ORPHA:524
HP:0100641	Neoplasm of the adrenal cortex	6329	SCN4A	ORPHA:681
HP:0100641	Neoplasm of the adrenal cortex	779	CACNA1S	ORPHA:681
HP:0100641	Neoplasm of the adrenal cortex	10008	KCNE3	ORPHA:681
HP:0100641	Neoplasm of the adrenal cortex	4221	MEN1	OMIM:131100
HP:0100641	Neoplasm of the adrenal cortex	324	APC	OMIM:175100
HP:0100641	Neoplasm of the adrenal cortex	324	APC	ORPHA:247806
HP:0100641	Neoplasm of the adrenal cortex	324	APC	ORPHA:79665
HP:0100641	Neoplasm of the adrenal cortex	1027	CDKN1B	ORPHA:276152
HP:0100641	Neoplasm of the adrenal cortex	1181	CLCN2	ORPHA:404
HP:0100641	Neoplasm of the adrenal cortex	1584	CYP11B1	ORPHA:403
HP:0100641	Neoplasm of the adrenal cortex	1585	CYP11B2	ORPHA:403
HP:0100641	Neoplasm of the adrenal cortex	3418	IDH2	ORPHA:163634
HP:0100641	Neoplasm of the adrenal cortex	3417	IDH1	ORPHA:163634
HP:0100641	Neoplasm of the adrenal cortex	5728	PTEN	ORPHA:109
HP:0100642	Neoplasm of the adrenal medulla	7428	VHL	ORPHA:892
HP:0100642	Neoplasm of the adrenal medulla	7428	VHL	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	7428	VHL	ORPHA:276621
HP:0100642	Neoplasm of the adrenal medulla	595	CCND1	ORPHA:892
HP:0100642	Neoplasm of the adrenal medulla	1743	DLST	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	4191	MDH2	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	5979	RET	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	5979	RET	ORPHA:276621
HP:0100642	Neoplasm of the adrenal medulla	6389	SDHA	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	23095	KIF1B	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	2271	FH	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	8402	SLC25A11	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	54949	SDHAF2	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	55654	TMEM127	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	4763	NF1	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	6391	SDHC	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	6391	SDHC	OMIM:605373
HP:0100642	Neoplasm of the adrenal medulla	6392	SDHD	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	6392	SDHD	OMIM:168000
HP:0100642	Neoplasm of the adrenal medulla	6392	SDHD	ORPHA:276621
HP:0100642	Neoplasm of the adrenal medulla	6390	SDHB	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	6390	SDHB	ORPHA:276621
HP:0100642	Neoplasm of the adrenal medulla	6390	SDHB	OMIM:115310
HP:0100642	Neoplasm of the adrenal medulla	4149	MAX	ORPHA:29072
HP:0100642	Neoplasm of the adrenal medulla	1788	DNMT3A	ORPHA:276621
HP:0100642	Neoplasm of the adrenal medulla	2034	EPAS1	ORPHA:276621
HP:0100643	Abnormality of nail color	26154	ABCA12	OMIM:601277
HP:0100643	Abnormality of nail color	831	CAST	OMIM:616295
HP:0100643	Abnormality of nail color	25959	KANK2	OMIM:616099
HP:0100643	Abnormality of nail color	2697	GJA1	OMIM:617525
HP:0100643	Abnormality of nail color	2697	GJA1	OMIM:104100
HP:0100643	Abnormality of nail color	5333	PLCD1	OMIM:151600
HP:0100643	Abnormality of nail color	1825	DSC3	OMIM:613102
HP:0100643	Abnormality of nail color	7227	TRPS1	OMIM:190350
HP:0100643	Abnormality of nail color	7227	TRPS1	ORPHA:77258
HP:0100643	Abnormality of nail color	2706	GJB2	OMIM:149200
HP:0100643	Abnormality of nail color	2706	GJB2	ORPHA:2698
HP:0100643	Abnormality of nail color	488	ATP2A2	ORPHA:79151
HP:0100643	Abnormality of nail color	1832	DSP	OMIM:615821
HP:0100643	Abnormality of nail color	545	ATR	OMIM:614564
HP:0100643	Abnormality of nail color	2303	FOXC2	OMIM:153400
HP:0100643	Abnormality of nail color	1828	DSG1	OMIM:148700
HP:0100643	Abnormality of nail color	5189	PEX1	ORPHA:3220
HP:0100643	Abnormality of nail color	5190	PEX6	ORPHA:3220
HP:0100643	Abnormality of nail color	100151683	RNU4ATAC	ORPHA:1824
HP:0100643	Abnormality of nail color	3832	KIF11	ORPHA:2526
HP:0100643	Abnormality of nail color	6794	STK11	ORPHA:2869
HP:0100644	Melanonychia	3832	KIF11	ORPHA:2526
HP:0100644	Melanonychia	6794	STK11	ORPHA:2869
HP:0100645	Cystocele	1281	COL3A1	OMIM:130050
HP:0100645	Cystocele	1281	COL3A1	ORPHA:286
HP:0100645	Cystocele	4088	SMAD3	OMIM:613795
HP:0100646	Thyroiditis	6909	TBX2	OMIM:618223
HP:0100646	Thyroiditis	10068	IL18BP	OMIM:618549
HP:0100646	Thyroiditis	5297	PI4KA	ORPHA:436252
HP:0100646	Thyroiditis	57217	TTC7A	ORPHA:436252
HP:0100646	Thyroiditis	5336	PLCG2	OMIM:614468
HP:0100646	Thyroiditis	5428	POLG	ORPHA:94125
HP:0100646	Thyroiditis	1493	CTLA4	OMIM:140300
HP:0100646	Thyroiditis	27022	FOXD3	OMIM:607836
HP:0100646	Thyroiditis	716	C1S	OMIM:613783
HP:0100646	Thyroiditis	51816	ADA2	OMIM:615688
HP:0100646	Thyroiditis	10483	SEC23B	OMIM:616858
HP:0100646	Thyroiditis	1027	CDKN1B	OMIM:610755
HP:0100646	Thyroiditis	1188	CLCNKB	ORPHA:358
HP:0100646	Thyroiditis	6559	SLC12A3	ORPHA:358
HP:0100646	Thyroiditis	355	FAS	ORPHA:3261
HP:0100646	Thyroiditis	356	FASLG	ORPHA:3261
HP:0100646	Thyroiditis	5580	PRKCD	ORPHA:3261
HP:0100646	Thyroiditis	843	CASP10	ORPHA:3261
HP:0100646	Thyroiditis	10125	RASGRP1	ORPHA:3261
HP:0100646	Thyroiditis	6772	STAT1	ORPHA:391487
HP:0100646	Thyroiditis	10043	TOM1	ORPHA:391487
HP:0100646	Thyroiditis	4791	NFKB2	ORPHA:293978
HP:0100646	Thyroiditis	2859	GPR35	ORPHA:171
HP:0100646	Thyroiditis	10507	SEMA4D	ORPHA:171
HP:0100646	Thyroiditis	4485	MST1	ORPHA:171
HP:0100646	Thyroiditis	6925	TCF4	ORPHA:171
HP:0100646	Thyroiditis	8651	SOCS1	OMIM:619375
HP:0100646	Thyroiditis	50943	FOXP3	ORPHA:37042
HP:0100646	Thyroiditis	6777	STAT5B	OMIM:618985
HP:0100646	Thyroiditis	987	LRBA	OMIM:614700
HP:0100646	Thyroiditis	3117	HLA-DQA1	OMIM:212750
HP:0100646	Thyroiditis	3119	HLA-DQB1	OMIM:212750
HP:0100646	Thyroiditis	6023	RMRP	ORPHA:39041
HP:0100646	Thyroiditis	55636	CHD7	ORPHA:39041
HP:0100646	Thyroiditis	3981	LIG4	ORPHA:39041
HP:0100646	Thyroiditis	5896	RAG1	ORPHA:39041
HP:0100646	Thyroiditis	5897	RAG2	ORPHA:39041
HP:0100646	Thyroiditis	64421	DCLRE1C	ORPHA:39041
HP:0100646	Thyroiditis	100	ADA	ORPHA:39041
HP:0100646	Thyroiditis	3575	IL7R	ORPHA:39041
HP:0100646	Thyroiditis	3561	IL2RG	ORPHA:39041
HP:0100646	Thyroiditis	83737	ITCH	ORPHA:228426
HP:0100646	Thyroiditis	57623	ZFAT	OMIM:608175
HP:0100646	Thyroiditis	7038	TG	OMIM:608175
HP:0100646	Thyroiditis	5728	PTEN	OMIM:158350
HP:0100646	Thyroiditis	22861	NLRP1	OMIM:617388
HP:0100646	Thyroiditis	5290	PIK3CA	OMIM:615108
HP:0100646	Thyroiditis	207	AKT1	OMIM:615109
HP:0100646	Thyroiditis	3559	IL2RA	OMIM:606367
HP:0100646	Thyroiditis	2542	SLC37A4	ORPHA:79259
HP:0100647	Graves disease	100134444	KCNJ18	ORPHA:79102
HP:0100647	Graves disease	2556	GABRA3	ORPHA:79102
HP:0100647	Graves disease	779	CACNA1S	ORPHA:79102
HP:0100647	Graves disease	1188	CLCNKB	ORPHA:358
HP:0100647	Graves disease	6559	SLC12A3	ORPHA:358
HP:0100648	Neoplasm of the tongue	79659	DYNC2H1	OMIM:613091
HP:0100648	Neoplasm of the tongue	4123	MAN2C1	OMIM:619775
HP:0100648	Neoplasm of the tongue	65250	CPLANE1	OMIM:277170
HP:0100648	Neoplasm of the tongue	65250	CPLANE1	ORPHA:2754
HP:0100648	Neoplasm of the tongue	153241	CEP120	OMIM:616300
HP:0100648	Neoplasm of the tongue	84314	TMEM107	OMIM:617563
HP:0100648	Neoplasm of the tongue	4750	NEK1	OMIM:263520
HP:0100648	Neoplasm of the tongue	4750	NEK1	ORPHA:2751
HP:0100648	Neoplasm of the tongue	26005	C2CD3	ORPHA:434179
HP:0100648	Neoplasm of the tongue	26005	C2CD3	OMIM:615948
HP:0100648	Neoplasm of the tongue	9786	KIAA0586	OMIM:616546
HP:0100648	Neoplasm of the tongue	83479	DDX59	OMIM:174300
HP:0100648	Neoplasm of the tongue	27152	INTU	OMIM:617925
HP:0100648	Neoplasm of the tongue	8481	OFD1	OMIM:311200
HP:0100648	Neoplasm of the tongue	8481	OFD1	ORPHA:2750
HP:0100648	Neoplasm of the tongue	8481	OFD1	ORPHA:2754
HP:0100648	Neoplasm of the tongue	1906	EDN1	ORPHA:137888
HP:0100648	Neoplasm of the tongue	5332	PLCB4	ORPHA:137888
HP:0100648	Neoplasm of the tongue	2773	GNAI3	ORPHA:137888
HP:0100648	Neoplasm of the tongue	51057	WDPCP	OMIM:217085
HP:0100648	Neoplasm of the tongue	51057	WDPCP	ORPHA:1338
HP:0100648	Neoplasm of the tongue	79583	TMEM231	ORPHA:2752
HP:0100648	Neoplasm of the tongue	26123	TCTN3	OMIM:258860
HP:0100648	Neoplasm of the tongue	26123	TCTN3	ORPHA:2754
HP:0100648	Neoplasm of the tongue	10210	TOPORS	ORPHA:2754
HP:0100648	Neoplasm of the tongue	9851	KIAA0753	ORPHA:2754
HP:0100648	Neoplasm of the tongue	5147	PDE6D	ORPHA:2754
HP:0100648	Neoplasm of the tongue	51259	TMEM216	ORPHA:2754
HP:0100648	Neoplasm of the tongue	317662	FAM149B1	ORPHA:2754
HP:0100648	Neoplasm of the tongue	374654	KIF7	ORPHA:2754
HP:0100648	Neoplasm of the tongue	4194	MDM4	OMIM:618849
HP:0100648	Neoplasm of the tongue	55135	WRAP53	OMIM:613988
HP:0100648	Neoplasm of the tongue	10804	GJB6	ORPHA:477
HP:0100648	Neoplasm of the tongue	2706	GJB2	ORPHA:477
HP:0100648	Neoplasm of the tongue	355	FAS	ORPHA:3261
HP:0100648	Neoplasm of the tongue	356	FASLG	ORPHA:3261
HP:0100648	Neoplasm of the tongue	5580	PRKCD	ORPHA:3261
HP:0100648	Neoplasm of the tongue	843	CASP10	ORPHA:3261
HP:0100648	Neoplasm of the tongue	10125	RASGRP1	ORPHA:3261
HP:0100648	Neoplasm of the tongue	8314	BAP1	ORPHA:2495
HP:0100648	Neoplasm of the tongue	4771	NF2	ORPHA:2495
HP:0100648	Neoplasm of the tongue	6598	SMARCB1	ORPHA:2495
HP:0100648	Neoplasm of the tongue	5155	PDGFB	ORPHA:2495
HP:0100648	Neoplasm of the tongue	84231	TRAF7	ORPHA:2495
HP:0100648	Neoplasm of the tongue	6608	SMO	ORPHA:2495
HP:0100648	Neoplasm of the tongue	207	AKT1	ORPHA:2495
HP:0100648	Neoplasm of the tongue	5290	PIK3CA	ORPHA:2495
HP:0100648	Neoplasm of the tongue	7015	TERT	ORPHA:2495
HP:0100648	Neoplasm of the tongue	51684	SUFU	ORPHA:2495
HP:0100648	Neoplasm of the tongue	6605	SMARCE1	ORPHA:2495
HP:0100648	Neoplasm of the tongue	23522	KAT6B	ORPHA:3047
HP:0011113	Abnormality of cytokine secretion	4792	NFKBIA	OMIM:612132
HP:0011113	Abnormality of cytokine secretion	5551	PRF1	ORPHA:540
HP:0011113	Abnormality of cytokine secretion	8676	STX11	ORPHA:540
HP:0011113	Abnormality of cytokine secretion	201294	UNC13D	ORPHA:540
HP:0011113	Abnormality of cytokine secretion	6813	STXBP2	ORPHA:540
HP:0011113	Abnormality of cytokine secretion	4210	MEFV	ORPHA:3243
HP:0011114	Defective production of NFKB1-dependent cytokines	4792	NFKBIA	OMIM:612132
HP:0011118	Abnormality of tumor necrosis factor secretion	5551	PRF1	ORPHA:540
HP:0011118	Abnormality of tumor necrosis factor secretion	8676	STX11	ORPHA:540
HP:0011118	Abnormality of tumor necrosis factor secretion	201294	UNC13D	ORPHA:540
HP:0011118	Abnormality of tumor necrosis factor secretion	6813	STXBP2	ORPHA:540
HP:0011118	Abnormality of tumor necrosis factor secretion	4210	MEFV	ORPHA:3243
HP:0011119	Abnormal nasal dorsum morphology	1281	COL3A1	OMIM:130050
HP:0011119	Abnormal nasal dorsum morphology	1281	COL3A1	OMIM:618343
HP:0011119	Abnormal nasal dorsum morphology	3187	HNRNPH1	OMIM:620083
HP:0011119	Abnormal nasal dorsum morphology	6595	SMARCA2	OMIM:619293
HP:0011119	Abnormal nasal dorsum morphology	4000	LMNA	ORPHA:280365
HP:0011119	Abnormal nasal dorsum morphology	4000	LMNA	ORPHA:740
HP:0011119	Abnormal nasal dorsum morphology	4000	LMNA	OMIM:248370
HP:0011119	Abnormal nasal dorsum morphology	10269	ZMPSTE24	ORPHA:740
HP:0011119	Abnormal nasal dorsum morphology	10269	ZMPSTE24	OMIM:608612
HP:0011119	Abnormal nasal dorsum morphology	10269	ZMPSTE24	OMIM:275210
HP:0011119	Abnormal nasal dorsum morphology	857	CAV1	OMIM:606721
HP:0011119	Abnormal nasal dorsum morphology	4893	NRAS	OMIM:137550
HP:0011119	Abnormal nasal dorsum morphology	3265	HRAS	OMIM:137550
HP:0011119	Abnormal nasal dorsum morphology	10651	MTX2	OMIM:619127
HP:0011119	Abnormal nasal dorsum morphology	1182	CLCN3	OMIM:619512
HP:0011119	Abnormal nasal dorsum morphology	113179	ADAT3	ORPHA:363528
HP:0011119	Abnormal nasal dorsum morphology	54914	FOCAD	OMIM:619991
HP:0011119	Abnormal nasal dorsum morphology	5831	PYCR1	OMIM:612940
HP:0011119	Abnormal nasal dorsum morphology	5831	PYCR1	OMIM:614438
HP:0011119	Abnormal nasal dorsum morphology	5832	ALDH18A1	OMIM:219150
HP:0011119	Abnormal nasal dorsum morphology	84942	WDR73	OMIM:251300
HP:0011119	Abnormal nasal dorsum morphology	2200	FBN1	OMIM:616914
HP:0011119	Abnormal nasal dorsum morphology	11128	POLR3A	OMIM:264090
HP:0011119	Abnormal nasal dorsum morphology	55165	CEP55	OMIM:236500
HP:0011119	Abnormal nasal dorsum morphology	7291	TWIST1	ORPHA:794
HP:0011119	Abnormal nasal dorsum morphology	7291	TWIST1	OMIM:101400
HP:0011119	Abnormal nasal dorsum morphology	2263	FGFR2	ORPHA:794
HP:0011119	Abnormal nasal dorsum morphology	2263	FGFR2	ORPHA:87
HP:0011119	Abnormal nasal dorsum morphology	2263	FGFR2	ORPHA:207
HP:0011119	Abnormal nasal dorsum morphology	2263	FGFR2	OMIM:101400
HP:0011119	Abnormal nasal dorsum morphology	2263	FGFR2	ORPHA:1540
HP:0011119	Abnormal nasal dorsum morphology	2261	FGFR3	ORPHA:794
HP:0011119	Abnormal nasal dorsum morphology	2261	FGFR3	ORPHA:93262
HP:0011119	Abnormal nasal dorsum morphology	23314	SATB2	ORPHA:251028
HP:0011119	Abnormal nasal dorsum morphology	23314	SATB2	ORPHA:251019
HP:0011119	Abnormal nasal dorsum morphology	7518	XRCC4	ORPHA:99812
HP:0011119	Abnormal nasal dorsum morphology	7518	XRCC4	OMIM:616541
HP:0011119	Abnormal nasal dorsum morphology	3981	LIG4	ORPHA:99812
HP:0011119	Abnormal nasal dorsum morphology	538	ATP7A	OMIM:304150
HP:0011119	Abnormal nasal dorsum morphology	256297	PTF1A	OMIM:609069
HP:0011119	Abnormal nasal dorsum morphology	197131	UBR1	OMIM:243800
HP:0011119	Abnormal nasal dorsum morphology	91754	NEK9	OMIM:617022
HP:0011119	Abnormal nasal dorsum morphology	221496	LEMD2	OMIM:619322
HP:0011119	Abnormal nasal dorsum morphology	1387	CREBBP	ORPHA:353281
HP:0011119	Abnormal nasal dorsum morphology	1387	CREBBP	OMIM:180849
HP:0011119	Abnormal nasal dorsum morphology	1387	CREBBP	ORPHA:353277
HP:0011119	Abnormal nasal dorsum morphology	91179	SCARF2	OMIM:600920
HP:0011119	Abnormal nasal dorsum morphology	55790	CSGALNACT1	OMIM:618870
HP:0011119	Abnormal nasal dorsum morphology	8882	ZPR1	OMIM:619321
HP:0011119	Abnormal nasal dorsum morphology	23426	GRIP1	OMIM:617667
HP:0011119	Abnormal nasal dorsum morphology	6905	TBCE	ORPHA:2323
HP:0011119	Abnormal nasal dorsum morphology	6905	TBCE	OMIM:241410
HP:0011119	Abnormal nasal dorsum morphology	30008	EFEMP2	OMIM:614437
HP:0011119	Abnormal nasal dorsum morphology	2033	EP300	ORPHA:353284
HP:0011119	Abnormal nasal dorsum morphology	2033	EP300	OMIM:180849
HP:0011119	Abnormal nasal dorsum morphology	2033	EP300	OMIM:613684
HP:0011119	Abnormal nasal dorsum morphology	7486	WRN	OMIM:277700
HP:0011119	Abnormal nasal dorsum morphology	7486	WRN	ORPHA:902
HP:0011119	Abnormal nasal dorsum morphology	2068	ERCC2	OMIM:610756
HP:0011119	Abnormal nasal dorsum morphology	4038	LRP4	ORPHA:3258
HP:0011119	Abnormal nasal dorsum morphology	324	APC	ORPHA:3258
HP:0011119	Abnormal nasal dorsum morphology	79840	NHEJ1	ORPHA:169079
HP:0011119	Abnormal nasal dorsum morphology	1763	DNA2	OMIM:615807
HP:0011119	Abnormal nasal dorsum morphology	6023	RMRP	ORPHA:175
HP:0011119	Abnormal nasal dorsum morphology	51132	RLIM	OMIM:300978
HP:0011119	Abnormal nasal dorsum morphology	55870	ASH1L	OMIM:617796
HP:0011119	Abnormal nasal dorsum morphology	4052	LTBP1	OMIM:619451
HP:0011119	Abnormal nasal dorsum morphology	23511	NUP188	OMIM:618804
HP:0011119	Abnormal nasal dorsum morphology	545	ATR	OMIM:614564
HP:0011119	Abnormal nasal dorsum morphology	545	ATR	OMIM:210600
HP:0011119	Abnormal nasal dorsum morphology	545	ATR	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	1277	COL1A1	OMIM:166210
HP:0011119	Abnormal nasal dorsum morphology	1278	COL1A2	OMIM:166210
HP:0011119	Abnormal nasal dorsum morphology	2077	ERF	ORPHA:207
HP:0011119	Abnormal nasal dorsum morphology	157680	VPS13B	OMIM:216550
HP:0011119	Abnormal nasal dorsum morphology	444	ASPH	OMIM:601552
HP:0011119	Abnormal nasal dorsum morphology	5424	POLD1	OMIM:615381
HP:0011119	Abnormal nasal dorsum morphology	79796	ALG9	OMIM:263210
HP:0011119	Abnormal nasal dorsum morphology	79796	ALG9	ORPHA:79328
HP:0011119	Abnormal nasal dorsum morphology	55012	PPP2R3C	OMIM:618419
HP:0011119	Abnormal nasal dorsum morphology	29980	DONSON	OMIM:617604
HP:0011119	Abnormal nasal dorsum morphology	29980	DONSON	OMIM:251230
HP:0011119	Abnormal nasal dorsum morphology	53834	FGFRL1	OMIM:194190
HP:0011119	Abnormal nasal dorsum morphology	1487	CTBP1	OMIM:194190
HP:0011119	Abnormal nasal dorsum morphology	3954	LETM1	OMIM:194190
HP:0011119	Abnormal nasal dorsum morphology	7468	NSD2	OMIM:194190
HP:0011119	Abnormal nasal dorsum morphology	10815	CPLX1	OMIM:194190
HP:0011119	Abnormal nasal dorsum morphology	4247	MGAT2	OMIM:212066
HP:0011119	Abnormal nasal dorsum morphology	4247	MGAT2	ORPHA:79329
HP:0011119	Abnormal nasal dorsum morphology	5977	DPF2	OMIM:618027
HP:0011119	Abnormal nasal dorsum morphology	3590	IL11RA	OMIM:614188
HP:0011119	Abnormal nasal dorsum morphology	29957	SLC25A24	OMIM:612289
HP:0011119	Abnormal nasal dorsum morphology	80152	CENPT	OMIM:618702
HP:0011119	Abnormal nasal dorsum morphology	2006	ELN	OMIM:123700
HP:0011119	Abnormal nasal dorsum morphology	25839	COG4	OMIM:618150
HP:0011119	Abnormal nasal dorsum morphology	25839	COG4	ORPHA:85172
HP:0011119	Abnormal nasal dorsum morphology	5189	PEX1	OMIM:601539
HP:0011119	Abnormal nasal dorsum morphology	5159	PDGFRB	OMIM:601812
HP:0011119	Abnormal nasal dorsum morphology	83737	ITCH	OMIM:613385
HP:0011119	Abnormal nasal dorsum morphology	28952	CCDC22	OMIM:300963
HP:0011119	Abnormal nasal dorsum morphology	10293	TRAIP	OMIM:616777
HP:0011119	Abnormal nasal dorsum morphology	10293	TRAIP	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	22995	CEP152	OMIM:613823
HP:0011119	Abnormal nasal dorsum morphology	22995	CEP152	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	113246	C12orf57	OMIM:218340
HP:0011119	Abnormal nasal dorsum morphology	81031	SLC2A10	OMIM:208050
HP:0011119	Abnormal nasal dorsum morphology	9319	TRIP13	OMIM:617598
HP:0011119	Abnormal nasal dorsum morphology	51360	MBTPS2	ORPHA:85284
HP:0011119	Abnormal nasal dorsum morphology	8815	BANF1	OMIM:614008
HP:0011119	Abnormal nasal dorsum morphology	1062	CENPE	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	5116	PCNT	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	5932	RBBP8	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	79902	NUP85	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	84126	ATRIP	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	55835	CENPJ	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	10733	PLK4	ORPHA:808
HP:0011119	Abnormal nasal dorsum morphology	4683	NBN	ORPHA:647
HP:0011119	Abnormal nasal dorsum morphology	2072	ERCC4	OMIM:610965
HP:0011119	Abnormal nasal dorsum morphology	1513	CTSK	ORPHA:763
HP:0011119	Abnormal nasal dorsum morphology	5631	PRPS1	OMIM:300661
HP:0011119	Abnormal nasal dorsum morphology	860	RUNX2	OMIM:156510
HP:0011119	Abnormal nasal dorsum morphology	4212	MEIS2	ORPHA:261190
HP:0011119	Abnormal nasal dorsum morphology	10535	RNASEH2A	OMIM:610333
HP:0011119	Abnormal nasal dorsum morphology	10535	RNASEH2A	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	84153	RNASEH2C	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	25939	SAMHD1	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	79621	RNASEH2B	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	103	ADAR	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	11277	TREX1	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	100147744	RNU7-1	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	134353	LSM11	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	64135	IFIH1	ORPHA:51
HP:0011119	Abnormal nasal dorsum morphology	2737	GLI3	ORPHA:672
HP:0011119	Abnormal nasal dorsum morphology	5573	PRKAR1A	ORPHA:950
HP:0011119	Abnormal nasal dorsum morphology	5144	PDE4D	ORPHA:950
HP:0011119	Abnormal nasal dorsum morphology	4621	MYH3	ORPHA:2053
HP:0011119	Abnormal nasal dorsum morphology	259232	NALCN	ORPHA:2053
HP:0011119	Abnormal nasal dorsum morphology	5193	PEX12	OMIM:266510
HP:0011119	Abnormal nasal dorsum morphology	1947	EFNB1	ORPHA:1520
HP:0011119	Abnormal nasal dorsum morphology	5077	PAX3	ORPHA:1529
HP:0011119	Abnormal nasal dorsum morphology	9342	SNAP29	ORPHA:66631
HP:0011119	Abnormal nasal dorsum morphology	3313	HSPA9	OMIM:616854
HP:0011119	Abnormal nasal dorsum morphology	10157	AASS	ORPHA:2203
HP:0011119	Abnormal nasal dorsum morphology	6662	SOX9	OMIM:114290
HP:0011119	Abnormal nasal dorsum morphology	55777	MBD5	OMIM:156200
HP:0011119	Abnormal nasal dorsum morphology	4125	MAN2B1	OMIM:248500
HP:0011119	Abnormal nasal dorsum morphology	7021	TFAP2B	ORPHA:46627
HP:0011119	Abnormal nasal dorsum morphology	546	ATRX	ORPHA:847
HP:0011119	Abnormal nasal dorsum morphology	80324	PUS1	OMIM:600462
HP:0011119	Abnormal nasal dorsum morphology	84314	TMEM107	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	26123	TCTN3	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	26123	TCTN3	ORPHA:2753
HP:0011119	Abnormal nasal dorsum morphology	79867	TCTN2	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	79867	TCTN2	OMIM:613885
HP:0011119	Abnormal nasal dorsum morphology	80776	B9D2	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	79600	TCTN1	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	57096	RPGRIP1	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	79848	CSPP1	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	80184	CEP290	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	51259	TMEM216	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	57545	CC2D2A	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	79583	TMEM231	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	91147	TMEM67	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	79770	TXNDC15	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	27077	B9D1	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	23322	RPGRIP1L	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	54903	MKS1	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	65062	TMEM237	ORPHA:564
HP:0011119	Abnormal nasal dorsum morphology	9184	BUB3	ORPHA:1052
HP:0011119	Abnormal nasal dorsum morphology	699	BUB1	ORPHA:1052
HP:0011119	Abnormal nasal dorsum morphology	9702	CEP57	ORPHA:1052
HP:0011119	Abnormal nasal dorsum morphology	701	BUB1B	ORPHA:1052
HP:0011119	Abnormal nasal dorsum morphology	2688	GH1	OMIM:262400
HP:0011119	Abnormal nasal dorsum morphology	10013	HDAC6	OMIM:300863
HP:0011119	Abnormal nasal dorsum morphology	10013	HDAC6	ORPHA:163966
HP:0011119	Abnormal nasal dorsum morphology	4330	MN1	OMIM:618774
HP:0011119	Abnormal nasal dorsum morphology	28514	DLL1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	28514	DLL1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	28514	DLL1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	28514	DLL1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	2253	FGF8	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	2253	FGF8	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	2253	FGF8	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	2253	FGF8	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	6496	SIX3	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	6496	SIX3	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	6496	SIX3	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	6496	SIX3	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	7050	TGIF1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	7050	TGIF1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	7050	TGIF1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	7050	TGIF1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	4838	NODAL	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	4838	NODAL	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	4838	NODAL	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	4838	NODAL	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	6469	SHH	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	6469	SHH	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	6469	SHH	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	6469	SHH	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	7546	ZIC2	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	7546	ZIC2	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	7546	ZIC2	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	7546	ZIC2	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	6491	STIL	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	6491	STIL	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	6491	STIL	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	6491	STIL	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	2619	GAS1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	2619	GAS1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	2619	GAS1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	2619	GAS1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	84976	DISP1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	84976	DISP1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	84976	DISP1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	84976	DISP1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	2736	GLI2	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	2736	GLI2	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	2736	GLI2	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	2736	GLI2	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	2736	GLI2	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	8928	FOXH1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	8928	FOXH1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	8928	FOXH1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	8928	FOXH1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	5727	PTCH1	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	5727	PTCH1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	5727	PTCH1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	5727	PTCH1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	50937	CDON	ORPHA:93926
HP:0011119	Abnormal nasal dorsum morphology	50937	CDON	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	50937	CDON	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	50937	CDON	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	2260	FGFR1	ORPHA:93924
HP:0011119	Abnormal nasal dorsum morphology	2260	FGFR1	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	23007	PLCH1	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	10735	STAG2	ORPHA:93925
HP:0011119	Abnormal nasal dorsum morphology	10735	STAG2	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	9487	PIGL	ORPHA:3474
HP:0011119	Abnormal nasal dorsum morphology	54496	PRMT7	ORPHA:464288
HP:0011119	Abnormal nasal dorsum morphology	26227	PHGDH	OMIM:256520
HP:0011119	Abnormal nasal dorsum morphology	64327	LMBR1	ORPHA:2378
HP:0011119	Abnormal nasal dorsum morphology	5979	RET	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	8516	ITGA8	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	26281	FGF20	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	2674	GFRA1	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	7484	WNT9B	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	80000	GREB1L	ORPHA:1848
HP:0011119	Abnormal nasal dorsum morphology	5590	PRKCZ	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	2563	GABRD	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	23013	SPEN	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	8510	MMP23B	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	7798	LUZP1	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	6497	SKI	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	10630	PDPN	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	10277	UBE4B	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	8514	KCNAB2	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	473	RERE	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	63976	PRDM16	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	54897	CASZ1	ORPHA:1606
HP:0011119	Abnormal nasal dorsum morphology	6899	TBX1	ORPHA:1727
HP:0011119	Abnormal nasal dorsum morphology	415	ARSL	ORPHA:79345
HP:0011119	Abnormal nasal dorsum morphology	5626	PROP1	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	5626	PROP1	ORPHA:90695
HP:0011119	Abnormal nasal dorsum morphology	89884	LHX4	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	3170	FOXA2	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	8820	HESX1	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	5015	OTX2	ORPHA:95494
HP:0011119	Abnormal nasal dorsum morphology	60401	EDA2R	ORPHA:181
HP:0011119	Abnormal nasal dorsum morphology	1896	EDA	ORPHA:181
HP:0011119	Abnormal nasal dorsum morphology	4849	CNOT3	OMIM:618672
HP:0011119	Abnormal nasal dorsum morphology	26154	ABCA12	ORPHA:457
HP:0011119	Abnormal nasal dorsum morphology	199221	DZIP1L	ORPHA:731
HP:0011119	Abnormal nasal dorsum morphology	5314	PKHD1	ORPHA:731
HP:0011119	Abnormal nasal dorsum morphology	56975	FAM20C	ORPHA:1832
HP:0011119	Abnormal nasal dorsum morphology	55343	SLC35C1	ORPHA:99843
HP:0011119	Abnormal nasal dorsum morphology	3930	LBR	OMIM:215140
HP:0011119	Abnormal nasal dorsum morphology	9652	SKIC3	OMIM:222470
HP:0011119	Abnormal nasal dorsum morphology	8243	SMC1A	ORPHA:220386
HP:0011119	Abnormal nasal dorsum morphology	2720	GLB1	OMIM:230500
HP:0011119	Abnormal nasal dorsum morphology	6223	RPS19	OMIM:105650
HP:0011119	Abnormal nasal dorsum morphology	117581	TWIST2	ORPHA:1807
HP:0011119	Abnormal nasal dorsum morphology	5781	PTPN11	OMIM:151100
HP:0011119	Abnormal nasal dorsum morphology	29968	PSAT1	OMIM:616038
HP:0011119	Abnormal nasal dorsum morphology	5081	PAX7	OMIM:618578
HP:0011119	Abnormal nasal dorsum morphology	51053	GMNN	OMIM:616835
HP:0011119	Abnormal nasal dorsum morphology	1146	CHRNG	OMIM:253290
HP:0011119	Abnormal nasal dorsum morphology	1144	CHRND	OMIM:253290
HP:0011119	Abnormal nasal dorsum morphology	1134	CHRNA1	OMIM:253290
HP:0011119	Abnormal nasal dorsum morphology	2690	GHR	ORPHA:633
HP:0011119	Abnormal nasal dorsum morphology	6658	SOX3	ORPHA:90695
HP:0011119	Abnormal nasal dorsum morphology	7189	TRAF6	ORPHA:1810
HP:0011119	Abnormal nasal dorsum morphology	128178	EDARADD	ORPHA:1810
HP:0011119	Abnormal nasal dorsum morphology	10913	EDAR	ORPHA:1810
HP:0011119	Abnormal nasal dorsum morphology	168667	BMPER	OMIM:608022
HP:0011119	Abnormal nasal dorsum morphology	3479	IGF1	ORPHA:73272
HP:0011119	Abnormal nasal dorsum morphology	4921	DDR2	OMIM:271665
HP:0011119	Abnormal nasal dorsum morphology	26235	FBXL4	OMIM:615471
HP:0011119	Abnormal nasal dorsum morphology	23312	DMXL2	OMIM:618663
HP:0011119	Abnormal nasal dorsum morphology	6777	STAT5B	OMIM:245590
HP:0011119	Abnormal nasal dorsum morphology	126695	KDF1	OMIM:617337
HP:0011119	Abnormal nasal dorsum morphology	5449	POU1F1	OMIM:613038
HP:0011119	Abnormal nasal dorsum morphology	85358	SHANK3	OMIM:606232
HP:0011119	Abnormal nasal dorsum morphology	3339	HSPG2	OMIM:255800
HP:0011119	Abnormal nasal dorsum morphology	10682	EBP	OMIM:302960
HP:0011119	Abnormal nasal dorsum morphology	9401	RECQL4	OMIM:218600
HP:0011119	Abnormal nasal dorsum morphology	9839	ZEB2	ORPHA:261552
HP:0011119	Abnormal nasal dorsum morphology	23404	EXOSC2	OMIM:617763
HP:0011119	Abnormal nasal dorsum morphology	4792	NFKBIA	OMIM:612132
HP:0011119	Abnormal nasal dorsum morphology	5184	PEPD	OMIM:170100
HP:0011119	Abnormal nasal dorsum morphology	529	ATP6V1E1	OMIM:617402
HP:0011119	Abnormal nasal dorsum morphology	182	JAG1	OMIM:118450
HP:0011119	Abnormal nasal dorsum morphology	2542	SLC37A4	OMIM:619525
HP:0011119	Abnormal nasal dorsum morphology	3559	IL2RA	OMIM:606367
HP:0011119	Abnormal nasal dorsum morphology	124583	CANT1	OMIM:251450
HP:0011119	Abnormal nasal dorsum morphology	2296	FOXC1	OMIM:602482
HP:0011119	Abnormal nasal dorsum morphology	50964	SOST	OMIM:122860
HP:0011119	Abnormal nasal dorsum morphology	10943	MSL3	OMIM:301032
HP:0011119	Abnormal nasal dorsum morphology	6134	RPL10	ORPHA:459070
HP:0011119	Abnormal nasal dorsum morphology	3190	HNRNPK	OMIM:616580
HP:0011119	Abnormal nasal dorsum morphology	23512	SUZ12	OMIM:618786
HP:0011119	Abnormal nasal dorsum morphology	29081	METTL5	OMIM:618665
HP:0011119	Abnormal nasal dorsum morphology	9179	AP4M1	OMIM:612936
HP:0011119	Abnormal nasal dorsum morphology	60529	ALX4	OMIM:609597
HP:0011119	Abnormal nasal dorsum morphology	60529	ALX4	OMIM:613451
HP:0011119	Abnormal nasal dorsum morphology	79718	TBL1XR1	ORPHA:487825
HP:0011112	Abnormality of serum cytokine level	6772	STAT1	ORPHA:391487
HP:0011112	Abnormality of serum cytokine level	10043	TOM1	ORPHA:391487
HP:0011112	Abnormality of serum cytokine level	3431	SP110	ORPHA:79124
HP:0011112	Abnormality of serum cytokine level	5551	PRF1	ORPHA:540
HP:0011112	Abnormality of serum cytokine level	8676	STX11	ORPHA:540
HP:0011112	Abnormality of serum cytokine level	201294	UNC13D	ORPHA:540
HP:0011112	Abnormality of serum cytokine level	6813	STXBP2	ORPHA:540
HP:0011112	Abnormality of serum cytokine level	25939	SAMHD1	OMIM:612952
HP:0011112	Abnormality of serum cytokine level	25939	SAMHD1	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	5696	PSMB8	OMIM:256040
HP:0011112	Abnormality of serum cytokine level	10535	RNASEH2A	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	84153	RNASEH2C	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	79621	RNASEH2B	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	103	ADAR	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	11277	TREX1	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	100147744	RNU7-1	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	134353	LSM11	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	64135	IFIH1	ORPHA:51
HP:0011112	Abnormality of serum cytokine level	6775	STAT4	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	3560	IL2RB	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	79722	ANKRD55	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	26191	PTPN22	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	919	CD247	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	3559	IL2RA	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	5771	PTPN2	ORPHA:85410
HP:0011112	Abnormality of serum cytokine level	355	FAS	ORPHA:3261
HP:0011112	Abnormality of serum cytokine level	356	FASLG	ORPHA:3261
HP:0011112	Abnormality of serum cytokine level	5580	PRKCD	ORPHA:3261
HP:0011112	Abnormality of serum cytokine level	843	CASP10	ORPHA:3261
HP:0011112	Abnormality of serum cytokine level	10125	RASGRP1	ORPHA:3261
HP:0011112	Abnormality of serum cytokine level	3594	IL12RB1	ORPHA:319552
HP:0011112	Abnormality of serum cytokine level	5205	ATP8B1	ORPHA:69665
HP:0011112	Abnormality of serum cytokine level	8647	ABCB11	ORPHA:69665
HP:0011112	Abnormality of serum cytokine level	5244	ABCB4	ORPHA:69665
HP:0011112	Abnormality of serum cytokine level	9971	NR1H4	ORPHA:69665
HP:0011112	Abnormality of serum cytokine level	2000	ELF4	OMIM:301074
HP:0011112	Abnormality of serum cytokine level	3162	HMOX1	OMIM:614034
HP:0011112	Abnormality of serum cytokine level	3570	IL6R	OMIM:618944
HP:0011112	Abnormality of serum cytokine level	54440	SASH3	OMIM:301082
HP:0011112	Abnormality of serum cytokine level	4210	MEFV	ORPHA:3243
HP:0011112	Abnormality of serum cytokine level	4210	MEFV	OMIM:608068
HP:0011112	Abnormality of serum cytokine level	8772	FADD	OMIM:613759
HP:0011112	Abnormality of serum cytokine level	5422	POLA1	OMIM:301220
HP:0011112	Abnormality of serum cytokine level	29775	CARD10	OMIM:619632
HP:0011111	Abnormality of immune serum protein physiology	4792	NFKBIA	OMIM:612132
HP:0011111	Abnormality of immune serum protein physiology	4210	MEFV	ORPHA:3243
HP:0011111	Abnormality of immune serum protein physiology	6772	STAT1	ORPHA:391487
HP:0011111	Abnormality of immune serum protein physiology	10043	TOM1	ORPHA:391487
HP:0011111	Abnormality of immune serum protein physiology	3431	SP110	ORPHA:79124
HP:0011111	Abnormality of immune serum protein physiology	5551	PRF1	ORPHA:540
HP:0011111	Abnormality of immune serum protein physiology	8676	STX11	ORPHA:540
HP:0011111	Abnormality of immune serum protein physiology	201294	UNC13D	ORPHA:540
HP:0011111	Abnormality of immune serum protein physiology	6813	STXBP2	ORPHA:540
HP:0011111	Abnormality of immune serum protein physiology	25939	SAMHD1	OMIM:612952
HP:0011111	Abnormality of immune serum protein physiology	25939	SAMHD1	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	5696	PSMB8	OMIM:256040
HP:0011111	Abnormality of immune serum protein physiology	10535	RNASEH2A	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	84153	RNASEH2C	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	79621	RNASEH2B	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	103	ADAR	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	11277	TREX1	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	100147744	RNU7-1	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	134353	LSM11	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	64135	IFIH1	ORPHA:51
HP:0011111	Abnormality of immune serum protein physiology	6775	STAT4	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	3560	IL2RB	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	79722	ANKRD55	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	26191	PTPN22	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	919	CD247	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	3559	IL2RA	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	5771	PTPN2	ORPHA:85410
HP:0011111	Abnormality of immune serum protein physiology	355	FAS	ORPHA:3261
HP:0011111	Abnormality of immune serum protein physiology	356	FASLG	ORPHA:3261
HP:0011111	Abnormality of immune serum protein physiology	5580	PRKCD	ORPHA:3261
HP:0011111	Abnormality of immune serum protein physiology	843	CASP10	ORPHA:3261
HP:0011111	Abnormality of immune serum protein physiology	10125	RASGRP1	ORPHA:3261
HP:0011111	Abnormality of immune serum protein physiology	3594	IL12RB1	ORPHA:319552
HP:0011111	Abnormality of immune serum protein physiology	5205	ATP8B1	ORPHA:69665
HP:0011111	Abnormality of immune serum protein physiology	8647	ABCB11	ORPHA:69665
HP:0011111	Abnormality of immune serum protein physiology	5244	ABCB4	ORPHA:69665
HP:0011111	Abnormality of immune serum protein physiology	9971	NR1H4	ORPHA:69665
HP:0011111	Abnormality of immune serum protein physiology	2000	ELF4	OMIM:301074
HP:0011111	Abnormality of immune serum protein physiology	3162	HMOX1	OMIM:614034
HP:0011111	Abnormality of immune serum protein physiology	3570	IL6R	OMIM:618944
HP:0011111	Abnormality of immune serum protein physiology	54440	SASH3	OMIM:301082
HP:0011111	Abnormality of immune serum protein physiology	8772	FADD	OMIM:613759
HP:0011111	Abnormality of immune serum protein physiology	5422	POLA1	OMIM:301220
HP:0011111	Abnormality of immune serum protein physiology	29775	CARD10	OMIM:619632
HP:0011110	Recurrent tonsillitis	79415	CYBC1	OMIM:618935
HP:0011110	Recurrent tonsillitis	641	BLM	ORPHA:125
HP:0011110	Recurrent tonsillitis	6340	SCNN1G	ORPHA:171876
HP:0011110	Recurrent tonsillitis	6337	SCNN1A	ORPHA:171876
HP:0011110	Recurrent tonsillitis	6338	SCNN1B	ORPHA:171876
HP:0011110	Recurrent tonsillitis	219972	MPEG1	OMIM:619223
HP:0011110	Recurrent tonsillitis	718	C3	OMIM:613779
HP:0011110	Recurrent tonsillitis	8737	RIPK1	OMIM:618852
HP:0011110	Recurrent tonsillitis	3514	IGKC	ORPHA:183675
HP:0011110	Recurrent tonsillitis	3501	IGHG2	ORPHA:183675
HP:0011110	Recurrent tonsillitis	1991	ELANE	ORPHA:2686
HP:0011110	Recurrent tonsillitis	4644	MYO5A	OMIM:214450
HP:0000894	Short clavicles	9321	TRIP11	OMIM:200600
HP:0000894	Short clavicles	11285	B4GALT7	OMIM:130070
HP:0000894	Short clavicles	10269	ZMPSTE24	OMIM:608612
HP:0000894	Short clavicles	10269	ZMPSTE24	OMIM:275210
HP:0000894	Short clavicles	10269	ZMPSTE24	ORPHA:740
HP:0000894	Short clavicles	4488	MSX2	ORPHA:60015
HP:0000894	Short clavicles	4488	MSX2	OMIM:168550
HP:0000894	Short clavicles	60529	ALX4	ORPHA:60015
HP:0000894	Short clavicles	8260	NAA10	OMIM:309800
HP:0000894	Short clavicles	54880	BCOR	OMIM:309800
HP:0000894	Short clavicles	340419	RSPO2	OMIM:618022
HP:0000894	Short clavicles	4000	LMNA	OMIM:619793
HP:0000894	Short clavicles	4000	LMNA	OMIM:212112
HP:0000894	Short clavicles	4000	LMNA	ORPHA:740
HP:0000894	Short clavicles	4000	LMNA	OMIM:248370
HP:0000894	Short clavicles	57167	SALL4	OMIM:147750
HP:0000894	Short clavicles	50814	NSDHL	OMIM:308050
HP:0000894	Short clavicles	1108	CHD4	OMIM:617159
HP:0000894	Short clavicles	64131	XYLT1	OMIM:615777
HP:0000894	Short clavicles	64131	XYLT1	ORPHA:370930
HP:0000894	Short clavicles	538	ATP7A	OMIM:304150
HP:0000894	Short clavicles	2263	FGFR2	ORPHA:313855
HP:0000894	Short clavicles	2263	FGFR2	OMIM:614592
HP:0000894	Short clavicles	9896	FIG4	OMIM:216340
HP:0000894	Short clavicles	6910	TBX5	OMIM:142900
HP:0000894	Short clavicles	267010	RNU12	OMIM:603116
HP:0000894	Short clavicles	6926	TBX3	OMIM:181450
HP:0000894	Short clavicles	10847	SRCAP	OMIM:136140
HP:0000894	Short clavicles	10847	SRCAP	ORPHA:2044
HP:0000894	Short clavicles	633	BGN	OMIM:300106
HP:0000894	Short clavicles	860	RUNX2	OMIM:119600
HP:0000894	Short clavicles	860	RUNX2	ORPHA:1452
HP:0000894	Short clavicles	51626	DYNC2LI1	OMIM:617088
HP:0000894	Short clavicles	221496	LEMD2	OMIM:619322
HP:0000894	Short clavicles	91179	SCARF2	OMIM:600920
HP:0000894	Short clavicles	9578	CDC42BPB	OMIM:619841
HP:0000894	Short clavicles	3239	HOXD13	OMIM:113300
HP:0000894	Short clavicles	2316	FLNA	OMIM:309350
HP:0000894	Short clavicles	2316	FLNA	ORPHA:2484
HP:0000894	Short clavicles	79633	FAT4	OMIM:615546
HP:0000894	Short clavicles	7291	TWIST1	OMIM:617746
HP:0000894	Short clavicles	8642	DCHS1	OMIM:601390
HP:0000894	Short clavicles	3425	IDUA	OMIM:607014
HP:0000894	Short clavicles	865	CBFB	OMIM:620099
HP:0000894	Short clavicles	26224	FBXL3	OMIM:606220
HP:0000894	Short clavicles	64840	PORCN	OMIM:305600
HP:0000894	Short clavicles	5728	PTEN	ORPHA:79076
HP:0000894	Short clavicles	657	BMPR1A	ORPHA:79076
HP:0005696	Postaxial polydactyly type A	285600	KIAA0825	OMIM:618498
HP:0005696	Postaxial polydactyly type A	51057	WDPCP	OMIM:217085
HP:0031524	Ampulla of Vater carcinoma	324	APC	ORPHA:79665
HP:0031525	Keratoacanthoma	2072	ERCC4	OMIM:278760
HP:0031525	Keratoacanthoma	56983	POGLUT1	ORPHA:79145
HP:0031525	Keratoacanthoma	3852	KRT5	ORPHA:79145
HP:0031525	Keratoacanthoma	23509	POFUT1	ORPHA:79145
HP:0031525	Keratoacanthoma	55851	PSENEN	ORPHA:79145
HP:0031538	Abnormal dermoepidermal junction morphology	3909	LAMA3	ORPHA:79404
HP:0031538	Abnormal dermoepidermal junction morphology	3909	LAMA3	OMIM:619784
HP:0031538	Abnormal dermoepidermal junction morphology	3918	LAMC2	ORPHA:79404
HP:0031538	Abnormal dermoepidermal junction morphology	3918	LAMC2	OMIM:619785
HP:0031538	Abnormal dermoepidermal junction morphology	3914	LAMB3	ORPHA:79404
HP:0031538	Abnormal dermoepidermal junction morphology	3691	ITGB4	OMIM:619816
HP:0031538	Abnormal dermoepidermal junction morphology	3691	ITGB4	OMIM:226730
HP:0031538	Abnormal dermoepidermal junction morphology	1308	COL17A1	ORPHA:79406
HP:0031538	Abnormal dermoepidermal junction morphology	3655	ITGA6	OMIM:619817
HP:0031538	Abnormal dermoepidermal junction morphology	5339	PLEC	OMIM:131950
HP:0031538	Abnormal dermoepidermal junction morphology	5339	PLEC	OMIM:226730
HP:0031538	Abnormal dermoepidermal junction morphology	1832	DSP	ORPHA:158687
HP:0031538	Abnormal dermoepidermal junction morphology	3728	JUP	ORPHA:158687
HP:0031538	Abnormal dermoepidermal junction morphology	7535	ZAP70	OMIM:617006
HP:0031538	Abnormal dermoepidermal junction morphology	3861	KRT14	OMIM:601001
HP:0031538	Abnormal dermoepidermal junction morphology	667	DST	OMIM:615425
HP:0031530	Multifocal subretinal deposits	114902	C1QTNF5	ORPHA:67042
HP:0100650	Vaginal neoplasm	4665	NAB2	ORPHA:2126
HP:0100650	Vaginal neoplasm	6778	STAT6	ORPHA:2126
HP:0100650	Vaginal neoplasm	9184	BUB3	ORPHA:1052
HP:0100650	Vaginal neoplasm	699	BUB1	ORPHA:1052
HP:0100650	Vaginal neoplasm	9702	CEP57	ORPHA:1052
HP:0100650	Vaginal neoplasm	9319	TRIP13	ORPHA:1052
HP:0100650	Vaginal neoplasm	701	BUB1B	ORPHA:1052
HP:0100650	Vaginal neoplasm	2271	FH	ORPHA:523
HP:0100650	Vaginal neoplasm	1288	COL4A6	ORPHA:1018
HP:0100650	Vaginal neoplasm	1287	COL4A5	ORPHA:1018
HP:0100651	Type I diabetes mellitus	4558	MT-TF	ORPHA:550
HP:0100651	Type I diabetes mellitus	4572	MT-TQ	ORPHA:550
HP:0100651	Type I diabetes mellitus	4512	MT-CO1	ORPHA:550
HP:0100651	Type I diabetes mellitus	4513	MT-CO2	ORPHA:550
HP:0100651	Type I diabetes mellitus	4514	MT-CO3	ORPHA:550
HP:0100651	Type I diabetes mellitus	4578	MT-TW	ORPHA:550
HP:0100651	Type I diabetes mellitus	4540	MT-ND5	ORPHA:550
HP:0100651	Type I diabetes mellitus	4541	MT-ND6	ORPHA:550
HP:0100651	Type I diabetes mellitus	4535	MT-ND1	ORPHA:550
HP:0100651	Type I diabetes mellitus	4538	MT-ND4	ORPHA:550
HP:0100651	Type I diabetes mellitus	4567	MT-TL1	ORPHA:550
HP:0100651	Type I diabetes mellitus	4574	MT-TS1	ORPHA:550
HP:0100651	Type I diabetes mellitus	4575	MT-TS2	ORPHA:550
HP:0100651	Type I diabetes mellitus	4564	MT-TH	ORPHA:550
HP:0100651	Type I diabetes mellitus	6772	STAT1	ORPHA:391487
HP:0100651	Type I diabetes mellitus	10043	TOM1	ORPHA:391487
HP:0100651	Type I diabetes mellitus	23019	CNOT1	OMIM:618500
HP:0100651	Type I diabetes mellitus	10068	IL18BP	OMIM:618549
HP:0100651	Type I diabetes mellitus	6774	STAT3	OMIM:615952
HP:0100651	Type I diabetes mellitus	6927	HNF1A	OMIM:612520
HP:0100651	Type I diabetes mellitus	2321	FLT1	ORPHA:275555
HP:0100651	Type I diabetes mellitus	219736	STOX1	ORPHA:275555
HP:0100651	Type I diabetes mellitus	10699	CORIN	ORPHA:275555
HP:0100651	Type I diabetes mellitus	987	LRBA	OMIM:614700
HP:0100651	Type I diabetes mellitus	50943	FOXP3	OMIM:304790
HP:0100651	Type I diabetes mellitus	50943	FOXP3	ORPHA:37042
HP:0100651	Type I diabetes mellitus	55315	SLC29A3	OMIM:602782
HP:0100651	Type I diabetes mellitus	60401	EDA2R	ORPHA:181
HP:0100651	Type I diabetes mellitus	1896	EDA	ORPHA:181
HP:0100651	Type I diabetes mellitus	83737	ITCH	OMIM:613385
HP:0100651	Type I diabetes mellitus	83737	ITCH	ORPHA:228426
HP:0100651	Type I diabetes mellitus	84340	GFM2	OMIM:618397
HP:0100651	Type I diabetes mellitus	50674	NEUROG3	ORPHA:83620
HP:0100651	Type I diabetes mellitus	3630	INS	OMIM:125852
HP:0100651	Type I diabetes mellitus	3630	INS	OMIM:618858
HP:0100651	Type I diabetes mellitus	51816	ADA2	OMIM:615688
HP:0100651	Type I diabetes mellitus	2542	SLC37A4	OMIM:619525
HP:0100651	Type I diabetes mellitus	6833	ABCC8	ORPHA:276575
HP:0100651	Type I diabetes mellitus	6833	ABCC8	OMIM:618857
HP:0100651	Type I diabetes mellitus	7086	TKT	ORPHA:488618
HP:0100651	Type I diabetes mellitus	3767	KCNJ11	ORPHA:276580
HP:0100651	Type I diabetes mellitus	3767	KCNJ11	OMIM:618856
HP:0100651	Type I diabetes mellitus	2859	GPR35	ORPHA:171
HP:0100651	Type I diabetes mellitus	10507	SEMA4D	ORPHA:171
HP:0100651	Type I diabetes mellitus	4485	MST1	ORPHA:171
HP:0100651	Type I diabetes mellitus	6925	TCF4	ORPHA:171
HP:0100651	Type I diabetes mellitus	326	AIRE	OMIM:240300
HP:0100651	Type I diabetes mellitus	1777	DNASE2	OMIM:619858
HP:0100651	Type I diabetes mellitus	10273	STUB1	ORPHA:412057
HP:0100651	Type I diabetes mellitus	284252	KCTD1	ORPHA:2036
HP:0100651	Type I diabetes mellitus	5297	PI4KA	ORPHA:436252
HP:0100651	Type I diabetes mellitus	57217	TTC7A	ORPHA:436252
HP:0100651	Type I diabetes mellitus	847	CAT	ORPHA:926
HP:0100651	Type I diabetes mellitus	3117	HLA-DQA1	OMIM:212750
HP:0100651	Type I diabetes mellitus	3119	HLA-DQB1	OMIM:212750
HP:0100651	Type I diabetes mellitus	9570	GOSR2	OMIM:620166
HP:0100651	Type I diabetes mellitus	4556	MT-TE	ORPHA:2596
HP:0100651	Type I diabetes mellitus	1854	DUT	OMIM:620044
HP:0100651	Type I diabetes mellitus	2645	GCK	OMIM:606176
HP:0100651	Type I diabetes mellitus	51311	TLR8	OMIM:301078
HP:0100651	Type I diabetes mellitus	4313	MMP2	ORPHA:371428
HP:0100651	Type I diabetes mellitus	4323	MMP14	ORPHA:371428
HP:0100651	Type I diabetes mellitus	857	CAV1	OMIM:606721
HP:0100651	Type I diabetes mellitus	5611	DNAJC3	OMIM:616192
HP:0100651	Type I diabetes mellitus	375056	MIA3	OMIM:619269
HP:0100651	Type I diabetes mellitus	9451	EIF2AK3	OMIM:226980
HP:0100651	Type I diabetes mellitus	23312	DMXL2	OMIM:616113
HP:0100651	Type I diabetes mellitus	9051	PSTPIP1	ORPHA:69126
HP:0100651	Type I diabetes mellitus	6688	SPI1	OMIM:619707
HP:0100651	Type I diabetes mellitus	3559	IL2RA	OMIM:606367
HP:0100651	Type I diabetes mellitus	1188	CLCNKB	ORPHA:358
HP:0100651	Type I diabetes mellitus	6559	SLC12A3	ORPHA:358
HP:0005978	Type II diabetes mellitus	6927	HNF1A	OMIM:600496
HP:0005978	Type II diabetes mellitus	6927	HNF1A	OMIM:125853
HP:0005978	Type II diabetes mellitus	7840	ALMS1	ORPHA:64
HP:0005978	Type II diabetes mellitus	4558	MT-TF	ORPHA:550
HP:0005978	Type II diabetes mellitus	4572	MT-TQ	ORPHA:550
HP:0005978	Type II diabetes mellitus	4512	MT-CO1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4513	MT-CO2	ORPHA:550
HP:0005978	Type II diabetes mellitus	4514	MT-CO3	ORPHA:550
HP:0005978	Type II diabetes mellitus	4578	MT-TW	ORPHA:550
HP:0005978	Type II diabetes mellitus	4540	MT-ND5	ORPHA:550
HP:0005978	Type II diabetes mellitus	4541	MT-ND6	ORPHA:550
HP:0005978	Type II diabetes mellitus	4535	MT-ND1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4538	MT-ND4	ORPHA:550
HP:0005978	Type II diabetes mellitus	4567	MT-TL1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4567	MT-TL1	ORPHA:225
HP:0005978	Type II diabetes mellitus	4574	MT-TS1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4575	MT-TS2	ORPHA:550
HP:0005978	Type II diabetes mellitus	4564	MT-TH	ORPHA:550
HP:0005978	Type II diabetes mellitus	92840	REEP6	ORPHA:791
HP:0005978	Type II diabetes mellitus	6094	ROM1	ORPHA:791
HP:0005978	Type II diabetes mellitus	6017	RLBP1	ORPHA:791
HP:0005978	Type II diabetes mellitus	7401	CLRN1	ORPHA:791
HP:0005978	Type II diabetes mellitus	24	ABCA4	ORPHA:791
HP:0005978	Type II diabetes mellitus	130557	ZNF513	ORPHA:791
HP:0005978	Type II diabetes mellitus	582	BBS1	ORPHA:791
HP:0005978	Type II diabetes mellitus	92211	CDHR1	ORPHA:791
HP:0005978	Type II diabetes mellitus	23568	ARL2BP	ORPHA:791
HP:0005978	Type II diabetes mellitus	6121	RPE65	ORPHA:791
HP:0005978	Type II diabetes mellitus	54806	AHI1	ORPHA:791
HP:0005978	Type II diabetes mellitus	6101	RP1	ORPHA:791
HP:0005978	Type II diabetes mellitus	3419	IDH3A	ORPHA:791
HP:0005978	Type II diabetes mellitus	4751	NEK2	ORPHA:791
HP:0005978	Type II diabetes mellitus	346007	EYS	ORPHA:791
HP:0005978	Type II diabetes mellitus	8100	IFT88	ORPHA:791
HP:0005978	Type II diabetes mellitus	23020	SNRNP200	ORPHA:791
HP:0005978	Type II diabetes mellitus	762	CA4	ORPHA:791
HP:0005978	Type II diabetes mellitus	138050	HGSNAT	ORPHA:791
HP:0005978	Type II diabetes mellitus	196	AHR	ORPHA:791
HP:0005978	Type II diabetes mellitus	3614	IMPDH1	ORPHA:791
HP:0005978	Type II diabetes mellitus	123016	TTC8	ORPHA:791
HP:0005978	Type II diabetes mellitus	6103	RPGR	ORPHA:791
HP:0005978	Type II diabetes mellitus	1406	CRX	ORPHA:791
HP:0005978	Type II diabetes mellitus	5148	PDE6G	ORPHA:791
HP:0005978	Type II diabetes mellitus	26160	IFT172	ORPHA:791
HP:0005978	Type II diabetes mellitus	26121	PRPF31	ORPHA:791
HP:0005978	Type II diabetes mellitus	583	BBS2	ORPHA:791
HP:0005978	Type II diabetes mellitus	4117	MAK	ORPHA:791
HP:0005978	Type II diabetes mellitus	25794	FSCN2	ORPHA:791
HP:0005978	Type II diabetes mellitus	375298	CERKL	ORPHA:791
HP:0005978	Type II diabetes mellitus	3420	IDH3B	ORPHA:791
HP:0005978	Type II diabetes mellitus	57670	KIAA1549	ORPHA:791
HP:0005978	Type II diabetes mellitus	7275	TUB	ORPHA:791
HP:0005978	Type II diabetes mellitus	24148	PRPF6	ORPHA:791
HP:0005978	Type II diabetes mellitus	23418	CRB1	ORPHA:791
HP:0005978	Type II diabetes mellitus	10461	MERTK	ORPHA:791
HP:0005978	Type II diabetes mellitus	57709	SLC7A14	ORPHA:791
HP:0005978	Type II diabetes mellitus	768206	PRCD	ORPHA:791
HP:0005978	Type II diabetes mellitus	7399	USH2A	ORPHA:791
HP:0005978	Type II diabetes mellitus	23370	ARHGEF18	ORPHA:791
HP:0005978	Type II diabetes mellitus	5949	RBP3	ORPHA:791
HP:0005978	Type II diabetes mellitus	6010	RHO	ORPHA:791
HP:0005978	Type II diabetes mellitus	6100	RP9	ORPHA:791
HP:0005978	Type II diabetes mellitus	10002	NR2E3	ORPHA:791
HP:0005978	Type II diabetes mellitus	9227	LRAT	ORPHA:791
HP:0005978	Type II diabetes mellitus	84140	FAM161A	ORPHA:791
HP:0005978	Type II diabetes mellitus	55812	SPATA7	ORPHA:791
HP:0005978	Type II diabetes mellitus	55624	POMGNT1	ORPHA:791
HP:0005978	Type II diabetes mellitus	79797	ZNF408	ORPHA:791
HP:0005978	Type II diabetes mellitus	403	ARL3	ORPHA:791
HP:0005978	Type II diabetes mellitus	5145	PDE6A	ORPHA:791
HP:0005978	Type II diabetes mellitus	10210	TOPORS	ORPHA:791
HP:0005978	Type II diabetes mellitus	8842	PROM1	ORPHA:791
HP:0005978	Type II diabetes mellitus	9128	PRPF4	ORPHA:791
HP:0005978	Type II diabetes mellitus	145226	RDH12	ORPHA:791
HP:0005978	Type II diabetes mellitus	50939	IMPG2	ORPHA:791
HP:0005978	Type II diabetes mellitus	8481	OFD1	ORPHA:791
HP:0005978	Type II diabetes mellitus	49855	SCAPER	ORPHA:791
HP:0005978	Type II diabetes mellitus	9742	IFT140	ORPHA:791
HP:0005978	Type II diabetes mellitus	2979	GUCA1B	ORPHA:791
HP:0005978	Type II diabetes mellitus	1259	CNGA1	ORPHA:791
HP:0005978	Type II diabetes mellitus	1258	CNGB1	ORPHA:791
HP:0005978	Type II diabetes mellitus	60509	AGBL5	ORPHA:791
HP:0005978	Type II diabetes mellitus	5961	PRPH2	ORPHA:791
HP:0005978	Type II diabetes mellitus	388939	PCARE	ORPHA:791
HP:0005978	Type II diabetes mellitus	7439	BEST1	ORPHA:791
HP:0005978	Type II diabetes mellitus	9785	DHX38	ORPHA:791
HP:0005978	Type II diabetes mellitus	7287	TULP1	ORPHA:791
HP:0005978	Type II diabetes mellitus	5995	RGR	ORPHA:791
HP:0005978	Type II diabetes mellitus	9129	PRPF3	ORPHA:791
HP:0005978	Type II diabetes mellitus	55975	KLHL7	ORPHA:791
HP:0005978	Type II diabetes mellitus	3617	IMPG1	ORPHA:791
HP:0005978	Type II diabetes mellitus	94137	RP1L1	ORPHA:791
HP:0005978	Type II diabetes mellitus	5158	PDE6B	ORPHA:791
HP:0005978	Type II diabetes mellitus	6102	RP2	ORPHA:791
HP:0005978	Type II diabetes mellitus	55857	KIZ	ORPHA:791
HP:0005978	Type II diabetes mellitus	64218	SEMA4A	ORPHA:791
HP:0005978	Type II diabetes mellitus	4901	NRL	ORPHA:791
HP:0005978	Type II diabetes mellitus	157657	CFAP418	ORPHA:791
HP:0005978	Type II diabetes mellitus	10594	PRPF8	ORPHA:791
HP:0005978	Type II diabetes mellitus	84100	ARL6	ORPHA:791
HP:0005978	Type II diabetes mellitus	6295	SAG	ORPHA:791
HP:0005978	Type II diabetes mellitus	79947	DHDDS	ORPHA:791
HP:0005978	Type II diabetes mellitus	63036	CELA2A	OMIM:618620
HP:0005978	Type II diabetes mellitus	23312	DMXL2	ORPHA:453533
HP:0005978	Type II diabetes mellitus	26580	BSCL2	OMIM:269700
HP:0005978	Type II diabetes mellitus	4160	MC4R	ORPHA:71529
HP:0005978	Type II diabetes mellitus	3651	PDX1	OMIM:606392
HP:0005978	Type II diabetes mellitus	3651	PDX1	OMIM:125853
HP:0005978	Type II diabetes mellitus	389692	MAFA	OMIM:147630
HP:0005978	Type II diabetes mellitus	5566	PRKACA	ORPHA:189439
HP:0005978	Type II diabetes mellitus	8622	PDE8B	ORPHA:189439
HP:0005978	Type II diabetes mellitus	5573	PRKAR1A	ORPHA:189439
HP:0005978	Type II diabetes mellitus	50940	PDE11A	ORPHA:189439
HP:0005978	Type II diabetes mellitus	10908	PNPLA6	ORPHA:2377
HP:0005978	Type II diabetes mellitus	6804	STX1A	ORPHA:904
HP:0005978	Type II diabetes mellitus	7461	CLIP2	ORPHA:904
HP:0005978	Type II diabetes mellitus	84277	DNAJC30	ORPHA:904
HP:0005978	Type II diabetes mellitus	8468	FKBP6	ORPHA:904
HP:0005978	Type II diabetes mellitus	5982	RFC2	ORPHA:904
HP:0005978	Type II diabetes mellitus	2969	GTF2I	ORPHA:904
HP:0005978	Type II diabetes mellitus	3984	LIMK1	ORPHA:904
HP:0005978	Type II diabetes mellitus	9569	GTF2IRD1	ORPHA:904
HP:0005978	Type II diabetes mellitus	155382	VPS37D	ORPHA:904
HP:0005978	Type II diabetes mellitus	155368	METTL27	ORPHA:904
HP:0005978	Type II diabetes mellitus	114049	BUD23	ORPHA:904
HP:0005978	Type II diabetes mellitus	7458	EIF4H	ORPHA:904
HP:0005978	Type II diabetes mellitus	84163	GTF2IRD2	ORPHA:904
HP:0005978	Type II diabetes mellitus	9275	BCL7B	ORPHA:904
HP:0005978	Type II diabetes mellitus	26608	TBL2	ORPHA:904
HP:0005978	Type II diabetes mellitus	653361	NCF1	ORPHA:904
HP:0005978	Type II diabetes mellitus	135886	TMEM270	ORPHA:904
HP:0005978	Type II diabetes mellitus	51085	MLXIPL	ORPHA:904
HP:0005978	Type II diabetes mellitus	9031	BAZ1B	ORPHA:904
HP:0005978	Type II diabetes mellitus	2006	ELN	ORPHA:904
HP:0005978	Type II diabetes mellitus	3643	INSR	ORPHA:2297
HP:0005978	Type II diabetes mellitus	7068	THRB	OMIM:274300
HP:0005978	Type II diabetes mellitus	7518	XRCC4	ORPHA:99812
HP:0005978	Type II diabetes mellitus	3981	LIG4	ORPHA:99812
HP:0005978	Type II diabetes mellitus	3981	LIG4	OMIM:606593
HP:0005978	Type II diabetes mellitus	7486	WRN	ORPHA:902
HP:0005978	Type II diabetes mellitus	4556	MT-TE	ORPHA:225
HP:0005978	Type II diabetes mellitus	4566	MT-TK	ORPHA:225
HP:0005978	Type II diabetes mellitus	7681	MKRN3	OMIM:176270
HP:0005978	Type II diabetes mellitus	3653	IPW	OMIM:176270
HP:0005978	Type II diabetes mellitus	54551	MAGEL2	OMIM:176270
HP:0005978	Type II diabetes mellitus	54551	MAGEL2	ORPHA:398069
HP:0005978	Type II diabetes mellitus	791114	PWRN1	OMIM:176270
HP:0005978	Type II diabetes mellitus	100033413	SNORD116-1	OMIM:176270
HP:0005978	Type II diabetes mellitus	8924	HERC2	OMIM:176270
HP:0005978	Type II diabetes mellitus	145624	PWAR1	OMIM:176270
HP:0005978	Type II diabetes mellitus	23742	NPAP1	OMIM:176270
HP:0005978	Type II diabetes mellitus	338433	SNORD115-1	OMIM:176270
HP:0005978	Type II diabetes mellitus	4040	LRP6	OMIM:610947
HP:0005978	Type II diabetes mellitus	8462	KLF11	OMIM:610508
HP:0005978	Type II diabetes mellitus	472	ATM	ORPHA:100
HP:0005978	Type II diabetes mellitus	7555	CNBP	OMIM:602668
HP:0005978	Type II diabetes mellitus	5468	PPARG	OMIM:604367
HP:0005978	Type II diabetes mellitus	5468	PPARG	OMIM:125853
HP:0005978	Type II diabetes mellitus	6934	TCF7L2	OMIM:125853
HP:0005978	Type II diabetes mellitus	2645	GCK	OMIM:125853
HP:0005978	Type II diabetes mellitus	2645	GCK	ORPHA:79299
HP:0005978	Type II diabetes mellitus	3172	HNF4A	OMIM:125853
HP:0005978	Type II diabetes mellitus	3569	IL6	OMIM:125853
HP:0005978	Type II diabetes mellitus	3990	LIPC	OMIM:125853
HP:0005978	Type II diabetes mellitus	9479	MAPK8IP1	OMIM:125853
HP:0005978	Type II diabetes mellitus	56729	RETN	OMIM:125853
HP:0005978	Type II diabetes mellitus	4544	MTNR1B	OMIM:125853
HP:0005978	Type II diabetes mellitus	5506	PPP1R3A	OMIM:125853
HP:0005978	Type II diabetes mellitus	7466	WFS1	OMIM:125853
HP:0005978	Type II diabetes mellitus	7466	WFS1	OMIM:614296
HP:0005978	Type II diabetes mellitus	208	AKT2	OMIM:125853
HP:0005978	Type II diabetes mellitus	6833	ABCC8	OMIM:125853
HP:0005978	Type II diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0005978	Type II diabetes mellitus	10644	IGF2BP2	OMIM:125853
HP:0005978	Type II diabetes mellitus	5167	ENPP1	OMIM:125853
HP:0005978	Type II diabetes mellitus	5770	PTPN1	OMIM:125853
HP:0005978	Type II diabetes mellitus	8660	IRS2	OMIM:125853
HP:0005978	Type II diabetes mellitus	3159	HMGA1	OMIM:125853
HP:0005978	Type II diabetes mellitus	5078	PAX4	OMIM:125853
HP:0005978	Type II diabetes mellitus	6928	HNF1B	OMIM:125853
HP:0005978	Type II diabetes mellitus	3667	IRS1	OMIM:125853
HP:0005978	Type II diabetes mellitus	4760	NEUROD1	OMIM:125853
HP:0005978	Type II diabetes mellitus	169026	SLC30A8	OMIM:125853
HP:0005978	Type II diabetes mellitus	2820	GPD2	OMIM:125853
HP:0005978	Type II diabetes mellitus	3767	KCNJ11	OMIM:125853
HP:0005978	Type II diabetes mellitus	6514	SLC2A2	OMIM:125853
HP:0005978	Type II diabetes mellitus	641	BLM	OMIM:210900
HP:0005978	Type II diabetes mellitus	6492	SIM1	ORPHA:398079
HP:0005978	Type II diabetes mellitus	1363	CPE	OMIM:619326
HP:0005978	Type II diabetes mellitus	23600	AMACR	ORPHA:79095
HP:0005978	Type II diabetes mellitus	5422	POLA1	ORPHA:163976
HP:0005978	Type II diabetes mellitus	4221	MEN1	ORPHA:99725
HP:0005978	Type II diabetes mellitus	9049	AIP	ORPHA:99725
HP:0005978	Type II diabetes mellitus	1786	DNMT1	OMIM:604121
HP:0005978	Type II diabetes mellitus	11128	POLR3A	ORPHA:3455
HP:0005978	Type II diabetes mellitus	2642	GCGR	OMIM:619290
HP:0005978	Type II diabetes mellitus	51218	GLRX5	OMIM:616860
HP:0005978	Type II diabetes mellitus	2200	FBN1	ORPHA:2833
HP:0005978	Type II diabetes mellitus	10273	STUB1	ORPHA:412057
HP:0005978	Type II diabetes mellitus	9149	DYRK1B	OMIM:615812
HP:0005978	Type II diabetes mellitus	847	CAT	ORPHA:926
HP:0005978	Type II diabetes mellitus	654	BMP6	OMIM:620121
HP:0005978	Type II diabetes mellitus	367	AR	ORPHA:481
HP:0005978	Type II diabetes mellitus	4340	MOG	OMIM:614250
HP:0005978	Type II diabetes mellitus	4000	LMNA	OMIM:151660
HP:0005978	Type II diabetes mellitus	4000	LMNA	ORPHA:79474
HP:0005978	Type II diabetes mellitus	833	CARS1	OMIM:618891
HP:0005978	Type II diabetes mellitus	64788	LMF1	OMIM:246650
HP:0005978	Type II diabetes mellitus	5333	PLCD1	ORPHA:2387
HP:0005978	Type II diabetes mellitus	84984	CEP19	OMIM:615703
HP:0005978	Type II diabetes mellitus	5116	PCNT	OMIM:210720
HP:0005978	Type II diabetes mellitus	25942	SIN3A	OMIM:613406
HP:0005978	Type II diabetes mellitus	1188	CLCNKB	ORPHA:358
HP:0005978	Type II diabetes mellitus	6559	SLC12A3	ORPHA:358
HP:0005978	Type II diabetes mellitus	5192	PEX10	ORPHA:247815
HP:0005978	Type II diabetes mellitus	1588	CYP19A1	ORPHA:91
HP:0005978	Type II diabetes mellitus	1499	CTNNB1	ORPHA:54595
HP:0005978	Type II diabetes mellitus	673	BRAF	ORPHA:54595
HP:0005978	Type II diabetes mellitus	11330	CTRC	ORPHA:103918
HP:0005978	Type II diabetes mellitus	6690	SPINK1	ORPHA:103918
HP:0005978	Type II diabetes mellitus	6690	SPINK1	OMIM:608189
HP:0100653	Optic neuritis	8517	IKBKG	OMIM:301081
HP:0100653	Optic neuritis	7084	TK2	ORPHA:254886
HP:0100653	Optic neuritis	5428	POLG	ORPHA:254886
HP:0100653	Optic neuritis	51284	TLR7	OMIM:301080
HP:0100653	Optic neuritis	149233	IL23R	ORPHA:117
HP:0100653	Optic neuritis	6775	STAT4	ORPHA:117
HP:0100653	Optic neuritis	3586	IL10	ORPHA:117
HP:0100653	Optic neuritis	4210	MEFV	ORPHA:117
HP:0100653	Optic neuritis	1230	CCR1	ORPHA:117
HP:0100653	Optic neuritis	355	FAS	ORPHA:117
HP:0100653	Optic neuritis	3592	IL12A	ORPHA:117
HP:0100653	Optic neuritis	101928376	IL12A-AS1	ORPHA:117
HP:0100653	Optic neuritis	3106	HLA-B	ORPHA:117
HP:0100653	Optic neuritis	7099	TLR4	ORPHA:117
HP:0100653	Optic neuritis	3459	IFNGR1	ORPHA:117
HP:0100653	Optic neuritis	720	C4A	ORPHA:117
HP:0100653	Optic neuritis	337867	UBAC2	ORPHA:117
HP:0100653	Optic neuritis	51752	ERAP1	ORPHA:117
HP:0100653	Optic neuritis	8302	KLRC4	ORPHA:117
HP:0100653	Optic neuritis	9692	PRORP	OMIM:619737
HP:0100653	Optic neuritis	114548	NLRP3	ORPHA:1451
HP:0100653	Optic neuritis	64127	NOD2	ORPHA:90340
HP:0100654	Retrobulbar optic neuritis	9692	PRORP	OMIM:619737
HP:0100654	Retrobulbar optic neuritis	114548	NLRP3	ORPHA:1451
HP:0100654	Retrobulbar optic neuritis	64127	NOD2	ORPHA:90340
HP:0100654	Retrobulbar optic neuritis	149233	IL23R	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	6775	STAT4	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	3586	IL10	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	4210	MEFV	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	1230	CCR1	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	355	FAS	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	3592	IL12A	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	101928376	IL12A-AS1	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	3106	HLA-B	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	7099	TLR4	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	3459	IFNGR1	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	720	C4A	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	337867	UBAC2	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	51752	ERAP1	ORPHA:117
HP:0100654	Retrobulbar optic neuritis	8302	KLRC4	ORPHA:117
HP:0000765	Abnormal thorax morphology	1589	CYP21A2	OMIM:201910
HP:0000765	Abnormal thorax morphology	6424	SFRP4	OMIM:265900
HP:0000765	Abnormal thorax morphology	7486	WRN	ORPHA:902
HP:0000765	Abnormal thorax morphology	6492	SIM1	ORPHA:171829
HP:0000765	Abnormal thorax morphology	8314	BAP1	ORPHA:50251
HP:0000765	Abnormal thorax morphology	26503	SLC17A5	OMIM:269920
HP:0000765	Abnormal thorax morphology	54332	GDAP1	ORPHA:101097
HP:0000765	Abnormal thorax morphology	1312	COMT	ORPHA:567
HP:0000765	Abnormal thorax morphology	221037	JMJD1C	ORPHA:567
HP:0000765	Abnormal thorax morphology	2812	GP1BB	ORPHA:567
HP:0000765	Abnormal thorax morphology	6239	RREB1	ORPHA:567
HP:0000765	Abnormal thorax morphology	6899	TBX1	ORPHA:567
HP:0000765	Abnormal thorax morphology	7290	HIRA	ORPHA:567
HP:0000765	Abnormal thorax morphology	9632	SEC24C	ORPHA:567
HP:0000765	Abnormal thorax morphology	7353	UFD1	ORPHA:567
HP:0000765	Abnormal thorax morphology	421	ARVCF	ORPHA:567
HP:0000765	Abnormal thorax morphology	10815	CPLX1	ORPHA:280
HP:0000765	Abnormal thorax morphology	54872	PIGG	ORPHA:280
HP:0000765	Abnormal thorax morphology	7469	NELFA	ORPHA:280
HP:0000765	Abnormal thorax morphology	1487	CTBP1	ORPHA:280
HP:0000765	Abnormal thorax morphology	3954	LETM1	ORPHA:280
HP:0000765	Abnormal thorax morphology	7468	NSD2	ORPHA:280
HP:0000765	Abnormal thorax morphology	5167	ENPP1	ORPHA:758
HP:0000765	Abnormal thorax morphology	6440	SFTPC	ORPHA:70587
HP:0000765	Abnormal thorax morphology	21	ABCA3	ORPHA:70587
HP:0000765	Abnormal thorax morphology	6439	SFTPB	ORPHA:70587
HP:0000765	Abnormal thorax morphology	427	ASAH1	ORPHA:333
HP:0000765	Abnormal thorax morphology	89970	RSPRY1	ORPHA:457395
HP:0000765	Abnormal thorax morphology	29940	DSE	ORPHA:2953
HP:0000765	Abnormal thorax morphology	998	CDC42	ORPHA:487796
HP:0000765	Abnormal thorax morphology	998	CDC42	OMIM:616737
HP:0000765	Abnormal thorax morphology	84282	RNF135	ORPHA:137634
HP:0000765	Abnormal thorax morphology	368	ABCC6	OMIM:177850
HP:0000765	Abnormal thorax morphology	633	BGN	OMIM:300989
HP:0000765	Abnormal thorax morphology	5978	REST	OMIM:617626
HP:0000765	Abnormal thorax morphology	7042	TGFB2	OMIM:614816
HP:0000765	Abnormal thorax morphology	7042	TGFB2	ORPHA:91387
HP:0000765	Abnormal thorax morphology	4629	MYH11	ORPHA:91387
HP:0000765	Abnormal thorax morphology	4087	SMAD2	ORPHA:91387
HP:0000765	Abnormal thorax morphology	59	ACTA2	ORPHA:91387
HP:0000765	Abnormal thorax morphology	5592	PRKG1	ORPHA:91387
HP:0000765	Abnormal thorax morphology	2301	FOXE3	ORPHA:91387
HP:0000765	Abnormal thorax morphology	4144	MAT2A	ORPHA:91387
HP:0000765	Abnormal thorax morphology	23493	HEY2	ORPHA:91387
HP:0000765	Abnormal thorax morphology	4638	MYLK	ORPHA:91387
HP:0000765	Abnormal thorax morphology	875	CBS	ORPHA:394
HP:0000765	Abnormal thorax morphology	875	CBS	OMIM:236200
HP:0000765	Abnormal thorax morphology	2218	FKTN	ORPHA:272
HP:0000765	Abnormal thorax morphology	2218	FKTN	OMIM:611588
HP:0000765	Abnormal thorax morphology	23135	KDM6B	OMIM:618505
HP:0000765	Abnormal thorax morphology	4204	MECP2	ORPHA:1762
HP:0000765	Abnormal thorax morphology	4125	MAN2B1	ORPHA:309282
HP:0000765	Abnormal thorax morphology	9578	CDC42BPB	OMIM:619841
HP:0000765	Abnormal thorax morphology	55790	CSGALNACT1	OMIM:618870
HP:0000765	Abnormal thorax morphology	1723	DHODH	OMIM:263750
HP:0000765	Abnormal thorax morphology	2782	GNB1	ORPHA:488613
HP:0000765	Abnormal thorax morphology	2782	GNB1	OMIM:616973
HP:0000765	Abnormal thorax morphology	2137	EXTL3	OMIM:617425
HP:0000765	Abnormal thorax morphology	65082	VPS33A	OMIM:617303
HP:0000765	Abnormal thorax morphology	84466	MEGF10	OMIM:614399
HP:0000765	Abnormal thorax morphology	23384	SPECC1L	ORPHA:1519
HP:0000765	Abnormal thorax morphology	51098	IFT52	ORPHA:1515
HP:0000765	Abnormal thorax morphology	55764	IFT122	ORPHA:1515
HP:0000765	Abnormal thorax morphology	55764	IFT122	OMIM:218330
HP:0000765	Abnormal thorax morphology	3190	HNRNPK	OMIM:616580
HP:0000765	Abnormal thorax morphology	284058	KANSL1	ORPHA:363958
HP:0000765	Abnormal thorax morphology	284058	KANSL1	OMIM:610443
HP:0000765	Abnormal thorax morphology	284058	KANSL1	ORPHA:363965
HP:0000765	Abnormal thorax morphology	55154	MSTO1	OMIM:617675
HP:0000765	Abnormal thorax morphology	55154	MSTO1	ORPHA:502423
HP:0000765	Abnormal thorax morphology	54453	RIN2	OMIM:613075
HP:0000765	Abnormal thorax morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000765	Abnormal thorax morphology	23545	ATP6V0A2	OMIM:278250
HP:0000765	Abnormal thorax morphology	64359	NXN	ORPHA:1507
HP:0000765	Abnormal thorax morphology	4920	ROR2	ORPHA:1507
HP:0000765	Abnormal thorax morphology	4920	ROR2	OMIM:268310
HP:0000765	Abnormal thorax morphology	171023	ASXL1	ORPHA:97297
HP:0000765	Abnormal thorax morphology	4297	KMT2A	ORPHA:319182
HP:0000765	Abnormal thorax morphology	57178	ZMIZ1	OMIM:618659
HP:0000765	Abnormal thorax morphology	8036	SHOC2	ORPHA:2701
HP:0000765	Abnormal thorax morphology	5500	PPP1CB	ORPHA:2701
HP:0000765	Abnormal thorax morphology	5500	PPP1CB	OMIM:617506
HP:0000765	Abnormal thorax morphology	200734	SPRED2	OMIM:619745
HP:0000765	Abnormal thorax morphology	200734	SPRED2	ORPHA:648
HP:0000765	Abnormal thorax morphology	4247	MGAT2	OMIM:212066
HP:0000765	Abnormal thorax morphology	4247	MGAT2	ORPHA:79329
HP:0000765	Abnormal thorax morphology	4053	LTBP2	OMIM:251750
HP:0000765	Abnormal thorax morphology	3476	IGBP1	ORPHA:52055
HP:0000765	Abnormal thorax morphology	3476	IGBP1	OMIM:300472
HP:0000765	Abnormal thorax morphology	3981	LIG4	ORPHA:235
HP:0000765	Abnormal thorax morphology	54888	NSUN2	ORPHA:235
HP:0000765	Abnormal thorax morphology	5518	PPP2R1A	OMIM:616362
HP:0000765	Abnormal thorax morphology	5518	PPP2R1A	ORPHA:457284
HP:0000765	Abnormal thorax morphology	51604	PIGT	OMIM:615398
HP:0000765	Abnormal thorax morphology	51604	PIGT	ORPHA:369837
HP:0000765	Abnormal thorax morphology	84665	MYPN	OMIM:617336
HP:0000765	Abnormal thorax morphology	84665	MYPN	ORPHA:171881
HP:0000765	Abnormal thorax morphology	9091	PIGQ	OMIM:618548
HP:0000765	Abnormal thorax morphology	5728	PTEN	ORPHA:109
HP:0000765	Abnormal thorax morphology	5728	PTEN	ORPHA:201
HP:0000765	Abnormal thorax morphology	5728	PTEN	OMIM:158350
HP:0000765	Abnormal thorax morphology	1859	DYRK1A	ORPHA:464311
HP:0000765	Abnormal thorax morphology	1859	DYRK1A	ORPHA:268261
HP:0000765	Abnormal thorax morphology	1859	DYRK1A	OMIM:614104
HP:0000765	Abnormal thorax morphology	5605	MAP2K2	OMIM:615280
HP:0000765	Abnormal thorax morphology	5605	MAP2K2	ORPHA:1340
HP:0000765	Abnormal thorax morphology	26137	ZBTB20	OMIM:259050
HP:0000765	Abnormal thorax morphology	26137	ZBTB20	ORPHA:3042
HP:0000765	Abnormal thorax morphology	2542	SLC37A4	OMIM:619525
HP:0000765	Abnormal thorax morphology	9772	TMEM94	OMIM:618316
HP:0000765	Abnormal thorax morphology	23299	BICD2	OMIM:615290
HP:0000765	Abnormal thorax morphology	23483	TGDS	OMIM:616145
HP:0000765	Abnormal thorax morphology	23483	TGDS	ORPHA:1388
HP:0000765	Abnormal thorax morphology	57479	PRR12	OMIM:619539
HP:0000765	Abnormal thorax morphology	7994	KAT6A	OMIM:616268
HP:0000765	Abnormal thorax morphology	4883	NPR3	OMIM:619543
HP:0000765	Abnormal thorax morphology	10533	ATG7	OMIM:619422
HP:0000765	Abnormal thorax morphology	26173	INTS1	OMIM:618571
HP:0000765	Abnormal thorax morphology	1523	CUX1	OMIM:618330
HP:0000765	Abnormal thorax morphology	164	AP1G1	OMIM:619548
HP:0000765	Abnormal thorax morphology	3480	IGF1R	ORPHA:73273
HP:0000765	Abnormal thorax morphology	3480	IGF1R	OMIM:270450
HP:0000765	Abnormal thorax morphology	4088	SMAD3	ORPHA:284984
HP:0000765	Abnormal thorax morphology	8076	MFAP5	OMIM:616166
HP:0000765	Abnormal thorax morphology	79912	PYROXD1	OMIM:617258
HP:0000765	Abnormal thorax morphology	57122	NUP107	OMIM:618348
HP:0000765	Abnormal thorax morphology	128869	PIGU	OMIM:618590
HP:0000765	Abnormal thorax morphology	6567	SLC16A2	OMIM:300523
HP:0000765	Abnormal thorax morphology	6567	SLC16A2	ORPHA:59
HP:0000765	Abnormal thorax morphology	29998	BICRA	OMIM:619325
HP:0000765	Abnormal thorax morphology	1289	COL5A1	OMIM:619329
HP:0000765	Abnormal thorax morphology	1289	COL5A1	OMIM:130000
HP:0000765	Abnormal thorax morphology	51114	ZDHHC9	ORPHA:776
HP:0000765	Abnormal thorax morphology	65109	UPF3B	ORPHA:776
HP:0000765	Abnormal thorax morphology	65109	UPF3B	OMIM:300676
HP:0000765	Abnormal thorax morphology	9968	MED12	ORPHA:776
HP:0000765	Abnormal thorax morphology	9968	MED12	OMIM:309520
HP:0000765	Abnormal thorax morphology	6904	TBCD	ORPHA:496641
HP:0000765	Abnormal thorax morphology	3549	IHH	ORPHA:63446
HP:0000765	Abnormal thorax morphology	3549	IHH	OMIM:607778
HP:0000765	Abnormal thorax morphology	51434	ANAPC7	OMIM:619699
HP:0000765	Abnormal thorax morphology	4052	LTBP1	OMIM:619451
HP:0000765	Abnormal thorax morphology	7170	TPM3	OMIM:609284
HP:0000765	Abnormal thorax morphology	7170	TPM3	ORPHA:171881
HP:0000765	Abnormal thorax morphology	7170	TPM3	ORPHA:2020
HP:0000765	Abnormal thorax morphology	5831	PYCR1	OMIM:612940
HP:0000765	Abnormal thorax morphology	9820	CUL7	OMIM:273750
HP:0000765	Abnormal thorax morphology	5351	PLOD1	ORPHA:1900
HP:0000765	Abnormal thorax morphology	1009	CDH11	OMIM:211380
HP:0000765	Abnormal thorax morphology	1009	CDH11	ORPHA:1299
HP:0000765	Abnormal thorax morphology	444	ASPH	OMIM:601552
HP:0000765	Abnormal thorax morphology	10483	SEC23B	ORPHA:201
HP:0000765	Abnormal thorax morphology	6390	SDHB	ORPHA:201
HP:0000765	Abnormal thorax morphology	6392	SDHD	ORPHA:201
HP:0000765	Abnormal thorax morphology	6391	SDHC	ORPHA:201
HP:0000765	Abnormal thorax morphology	207	AKT1	ORPHA:201
HP:0000765	Abnormal thorax morphology	207	AKT1	OMIM:615109
HP:0000765	Abnormal thorax morphology	205717	USF3	ORPHA:201
HP:0000765	Abnormal thorax morphology	5290	PIK3CA	ORPHA:201
HP:0000765	Abnormal thorax morphology	5290	PIK3CA	OMIM:615108
HP:0000765	Abnormal thorax morphology	100144748	KLLN	ORPHA:201
HP:0000765	Abnormal thorax morphology	22808	MRAS	OMIM:618499
HP:0000765	Abnormal thorax morphology	22808	MRAS	ORPHA:648
HP:0000765	Abnormal thorax morphology	4015	LOX	OMIM:617168
HP:0000765	Abnormal thorax morphology	2332	FMR1	OMIM:300624
HP:0000765	Abnormal thorax morphology	6611	SMS	ORPHA:3063
HP:0000765	Abnormal thorax morphology	6611	SMS	OMIM:309583
HP:0000765	Abnormal thorax morphology	57003	CCDC47	OMIM:618268
HP:0000765	Abnormal thorax morphology	5977	DPF2	OMIM:618027
HP:0000765	Abnormal thorax morphology	10526	IPO8	OMIM:619472
HP:0000765	Abnormal thorax morphology	10526	IPO8	ORPHA:60030
HP:0000765	Abnormal thorax morphology	145173	B3GLCT	OMIM:261540
HP:0000765	Abnormal thorax morphology	1387	CREBBP	OMIM:180849
HP:0000765	Abnormal thorax morphology	2033	EP300	OMIM:180849
HP:0000765	Abnormal thorax morphology	80036	TRPM3	OMIM:620224
HP:0000765	Abnormal thorax morphology	25839	COG4	OMIM:618150
HP:0000765	Abnormal thorax morphology	23405	DICER1	OMIM:618272
HP:0000765	Abnormal thorax morphology	113189	CHST14	OMIM:601776
HP:0000765	Abnormal thorax morphology	7204	TRIO	OMIM:617061
HP:0000765	Abnormal thorax morphology	7204	TRIO	ORPHA:476126
HP:0000765	Abnormal thorax morphology	2077	ERF	OMIM:617180
HP:0000765	Abnormal thorax morphology	9325	TRIP4	OMIM:617066
HP:0000765	Abnormal thorax morphology	9325	TRIP4	ORPHA:486815
HP:0000765	Abnormal thorax morphology	203068	TUBB	OMIM:156610
HP:0000765	Abnormal thorax morphology	6872	TAF1	OMIM:300966
HP:0000765	Abnormal thorax morphology	374354	NHLRC2	OMIM:618278
HP:0000765	Abnormal thorax morphology	10651	MTX2	OMIM:619127
HP:0000765	Abnormal thorax morphology	10220	GDF11	OMIM:619122
HP:0000765	Abnormal thorax morphology	4617	MYF5	OMIM:618155
HP:0000765	Abnormal thorax morphology	55717	WDR11	OMIM:620237
HP:0000765	Abnormal thorax morphology	23387	SIK3	OMIM:618162
HP:0000765	Abnormal thorax morphology	10084	PQBP1	OMIM:309500
HP:0000765	Abnormal thorax morphology	50515	CHST11	OMIM:618167
HP:0000765	Abnormal thorax morphology	11014	KDELR2	OMIM:619131
HP:0000765	Abnormal thorax morphology	10479	SLC9A6	ORPHA:85278
HP:0000765	Abnormal thorax morphology	9487	PIGL	OMIM:280000
HP:0000765	Abnormal thorax morphology	9487	PIGL	ORPHA:247262
HP:0000765	Abnormal thorax morphology	10491	CRTAP	OMIM:610682
HP:0000765	Abnormal thorax morphology	867	CBL	ORPHA:648
HP:0000765	Abnormal thorax morphology	867	CBL	OMIM:613563
HP:0000765	Abnormal thorax morphology	6016	RIT1	ORPHA:648
HP:0000765	Abnormal thorax morphology	6237	RRAS	ORPHA:648
HP:0000765	Abnormal thorax morphology	4893	NRAS	ORPHA:648
HP:0000765	Abnormal thorax morphology	4893	NRAS	OMIM:613224
HP:0000765	Abnormal thorax morphology	6655	SOS2	ORPHA:648
HP:0000765	Abnormal thorax morphology	5922	RASA2	ORPHA:648
HP:0000765	Abnormal thorax morphology	5479	PPIB	OMIM:259440
HP:0000765	Abnormal thorax morphology	7474	WNT5A	OMIM:180700
HP:0000765	Abnormal thorax morphology	7474	WNT5A	ORPHA:3107
HP:0000765	Abnormal thorax morphology	1855	DVL1	OMIM:180700
HP:0000765	Abnormal thorax morphology	1855	DVL1	ORPHA:3107
HP:0000765	Abnormal thorax morphology	374654	KIF7	ORPHA:166024
HP:0000765	Abnormal thorax morphology	374654	KIF7	OMIM:607131
HP:0000765	Abnormal thorax morphology	128674	PROKR2	OMIM:244200
HP:0000765	Abnormal thorax morphology	161742	SPRED1	OMIM:611431
HP:0000765	Abnormal thorax morphology	9839	ZEB2	OMIM:235730
HP:0000765	Abnormal thorax morphology	9839	ZEB2	ORPHA:261552
HP:0000765	Abnormal thorax morphology	9839	ZEB2	ORPHA:261537
HP:0000765	Abnormal thorax morphology	64324	NSD1	ORPHA:821
HP:0000765	Abnormal thorax morphology	29072	SETD2	ORPHA:821
HP:0000765	Abnormal thorax morphology	10297	APC2	ORPHA:821
HP:0000765	Abnormal thorax morphology	58	ACTA1	ORPHA:171436
HP:0000765	Abnormal thorax morphology	58	ACTA1	ORPHA:2020
HP:0000765	Abnormal thorax morphology	7169	TPM2	ORPHA:171436
HP:0000765	Abnormal thorax morphology	7169	TPM2	ORPHA:171881
HP:0000765	Abnormal thorax morphology	7169	TPM2	ORPHA:2020
HP:0000765	Abnormal thorax morphology	4703	NEB	ORPHA:171436
HP:0000765	Abnormal thorax morphology	10324	KLHL41	ORPHA:171436
HP:0000765	Abnormal thorax morphology	56203	LMOD3	ORPHA:171436
HP:0000765	Abnormal thorax morphology	1073	CFL2	ORPHA:171436
HP:0000765	Abnormal thorax morphology	25782	RAB3GAP2	OMIM:212720
HP:0000765	Abnormal thorax morphology	4233	MET	OMIM:607278
HP:0000765	Abnormal thorax morphology	6197	RPS6KA3	OMIM:303600
HP:0000765	Abnormal thorax morphology	6197	RPS6KA3	ORPHA:276630
HP:0000765	Abnormal thorax morphology	6197	RPS6KA3	ORPHA:192
HP:0000765	Abnormal thorax morphology	84992	PIGY	ORPHA:247262
HP:0000765	Abnormal thorax morphology	84720	PIGO	ORPHA:247262
HP:0000765	Abnormal thorax morphology	93210	PGAP3	ORPHA:247262
HP:0000765	Abnormal thorax morphology	284098	PIGW	ORPHA:247262
HP:0000765	Abnormal thorax morphology	27315	PGAP2	ORPHA:247262
HP:0000765	Abnormal thorax morphology	55650	PIGV	ORPHA:247262
HP:0000765	Abnormal thorax morphology	57190	SELENON	ORPHA:2020
HP:0000765	Abnormal thorax morphology	4633	MYL2	ORPHA:2020
HP:0000765	Abnormal thorax morphology	3679	ITGA7	ORPHA:2020
HP:0000765	Abnormal thorax morphology	9200	HACD1	ORPHA:2020
HP:0000765	Abnormal thorax morphology	51776	MAP3K20	ORPHA:2020
HP:0000765	Abnormal thorax morphology	6663	SOX10	OMIM:611584
HP:0000765	Abnormal thorax morphology	1954	MEGF8	OMIM:614976
HP:0000765	Abnormal thorax morphology	2200	FBN1	OMIM:616914
HP:0000765	Abnormal thorax morphology	2200	FBN1	ORPHA:2462
HP:0000765	Abnormal thorax morphology	2200	FBN1	OMIM:154700
HP:0000765	Abnormal thorax morphology	165	AEBP1	ORPHA:536532
HP:0000765	Abnormal thorax morphology	9653	HS2ST1	OMIM:619194
HP:0000765	Abnormal thorax morphology	1857	DVL3	ORPHA:3107
HP:0000765	Abnormal thorax morphology	2535	FZD2	ORPHA:3107
HP:0000765	Abnormal thorax morphology	10056	FARSB	OMIM:613658
HP:0000765	Abnormal thorax morphology	9289	ADGRG1	ORPHA:98889
HP:0000765	Abnormal thorax morphology	5297	PI4KA	ORPHA:98889
HP:0000765	Abnormal thorax morphology	27286	SRPX2	ORPHA:98889
HP:0000765	Abnormal thorax morphology	9719	ADAMTSL2	OMIM:231050
HP:0000765	Abnormal thorax morphology	1303	COL12A1	ORPHA:536516
HP:0000765	Abnormal thorax morphology	8050	PDHX	OMIM:245349
HP:0000765	Abnormal thorax morphology	5832	ALDH18A1	OMIM:219150
HP:0000765	Abnormal thorax morphology	4677	NARS1	OMIM:619092
HP:0000765	Abnormal thorax morphology	8242	KDM5C	OMIM:300534
HP:0000765	Abnormal thorax morphology	81031	SLC2A10	OMIM:208050
HP:0000765	Abnormal thorax morphology	7048	TGFBR2	OMIM:610168
HP:0000765	Abnormal thorax morphology	7048	TGFBR2	ORPHA:60030
HP:0000765	Abnormal thorax morphology	147372	CCBE1	OMIM:235510
HP:0000765	Abnormal thorax morphology	2702	GJA5	OMIM:612474
HP:0000765	Abnormal thorax morphology	2703	GJA8	OMIM:612474
HP:0000765	Abnormal thorax morphology	7046	TGFBR1	ORPHA:60030
HP:0000765	Abnormal thorax morphology	55690	PACS1	ORPHA:329224
HP:0000765	Abnormal thorax morphology	2245	FGD1	ORPHA:915
HP:0000765	Abnormal thorax morphology	2245	FGD1	OMIM:305400
HP:0000765	Abnormal thorax morphology	9894	TELO2	OMIM:616954
HP:0000765	Abnormal thorax morphology	196528	ARID2	OMIM:617808
HP:0000765	Abnormal thorax morphology	26123	TCTN3	OMIM:258860
HP:0000765	Abnormal thorax morphology	10075	HUWE1	OMIM:309590
HP:0000765	Abnormal thorax morphology	5979	RET	OMIM:162300
HP:0000765	Abnormal thorax morphology	9780	PIEZO1	OMIM:616843
HP:0000765	Abnormal thorax morphology	23394	ADNP	OMIM:615873
HP:0000765	Abnormal thorax morphology	4854	NOTCH3	OMIM:130720
HP:0000765	Abnormal thorax morphology	4854	NOTCH3	ORPHA:2789
HP:0000765	Abnormal thorax morphology	30008	EFEMP2	OMIM:614437
HP:0000765	Abnormal thorax morphology	10982	MAPRE2	OMIM:616734
HP:0000765	Abnormal thorax morphology	63035	BCORL1	OMIM:301029
HP:0000765	Abnormal thorax morphology	64131	XYLT1	OMIM:615777
HP:0000765	Abnormal thorax morphology	79576	NKAP	OMIM:301039
HP:0000765	Abnormal thorax morphology	25	ABL1	OMIM:617602
HP:0000765	Abnormal thorax morphology	55644	OSGEP	OMIM:617729
HP:0000765	Abnormal thorax morphology	760	CA2	ORPHA:2785
HP:0000765	Abnormal thorax morphology	23476	BRD4	ORPHA:199
HP:0000765	Abnormal thorax morphology	9126	SMC3	ORPHA:199
HP:0000765	Abnormal thorax morphology	8243	SMC1A	ORPHA:199
HP:0000765	Abnormal thorax morphology	55869	HDAC8	ORPHA:199
HP:0000765	Abnormal thorax morphology	5885	RAD21	ORPHA:199
HP:0000765	Abnormal thorax morphology	157680	VPS13B	ORPHA:193
HP:0000765	Abnormal thorax morphology	490	ATP2B1	OMIM:619910
HP:0000765	Abnormal thorax morphology	83737	ITCH	OMIM:613385
HP:0000765	Abnormal thorax morphology	139285	AMER1	OMIM:300373
HP:0000765	Abnormal thorax morphology	4094	MAF	OMIM:601088
HP:0000765	Abnormal thorax morphology	5430	POLR2A	OMIM:618603
HP:0000765	Abnormal thorax morphology	4621	MYH3	ORPHA:2990
HP:0000765	Abnormal thorax morphology	10225	CD96	ORPHA:1308
HP:0000765	Abnormal thorax morphology	10516	FBLN5	OMIM:219100
HP:0000765	Abnormal thorax morphology	7043	TGFB3	OMIM:615582
HP:0000765	Abnormal thorax morphology	79875	THSD4	OMIM:619825
HP:0000765	Abnormal thorax morphology	6736	SRY	ORPHA:1772
HP:0000765	Abnormal thorax morphology	25871	NEPRO	OMIM:618853
HP:0000765	Abnormal thorax morphology	4654	MYOD1	OMIM:618975
HP:0000765	Abnormal thorax morphology	11253	MAN1B1	ORPHA:397941
HP:0000765	Abnormal thorax morphology	81857	MED25	OMIM:616449
HP:0000765	Abnormal thorax morphology	81857	MED25	ORPHA:464738
HP:0000765	Abnormal thorax morphology	5352	PLOD2	OMIM:609220
HP:0000765	Abnormal thorax morphology	64412	GZF1	OMIM:617662
HP:0000765	Abnormal thorax morphology	2201	FBN2	OMIM:121050
HP:0000765	Abnormal thorax morphology	4758	NEU1	ORPHA:812
HP:0000765	Abnormal thorax morphology	57231	SNX14	ORPHA:397709
HP:0000765	Abnormal thorax morphology	6660	SOX5	ORPHA:313892
HP:0000765	Abnormal thorax morphology	6660	SOX5	OMIM:616803
HP:0000765	Abnormal thorax morphology	84572	GNPTG	OMIM:252605
HP:0000765	Abnormal thorax morphology	137492	VPS37A	ORPHA:319199
HP:0000765	Abnormal thorax morphology	137492	VPS37A	OMIM:614898
HP:0000765	Abnormal thorax morphology	317662	FAM149B1	OMIM:618763
HP:0000765	Abnormal thorax morphology	7345	UCHL1	OMIM:615491
HP:0000765	Abnormal thorax morphology	55870	ASH1L	OMIM:617796
HP:0000765	Abnormal thorax morphology	92579	G6PC3	OMIM:612541
HP:0000765	Abnormal thorax morphology	114034	TOE1	OMIM:614969
HP:0000765	Abnormal thorax morphology	649	BMP1	OMIM:614856
HP:0000765	Abnormal thorax morphology	175	AGA	ORPHA:93
HP:0000765	Abnormal thorax morphology	4853	NOTCH2	ORPHA:955
HP:0000765	Abnormal thorax morphology	3265	HRAS	OMIM:218040
HP:0000765	Abnormal thorax morphology	54	ACP5	ORPHA:1855
HP:0000765	Abnormal thorax morphology	2335	FN1	OMIM:184255
HP:0000765	Abnormal thorax morphology	2335	FN1	ORPHA:93315
HP:0000765	Abnormal thorax morphology	11285	B4GALT7	OMIM:130070
HP:0000765	Abnormal thorax morphology	79759	ZNF668	OMIM:620194
HP:0000765	Abnormal thorax morphology	4311	MME	ORPHA:497764
HP:0000765	Abnormal thorax morphology	4311	MME	OMIM:617018
HP:0000765	Abnormal thorax morphology	55210	ATAD3A	ORPHA:496790
HP:0000765	Abnormal thorax morphology	55210	ATAD3A	OMIM:617183
HP:0000765	Abnormal thorax morphology	6558	SLC12A2	OMIM:619080
HP:0000765	Abnormal thorax morphology	3187	HNRNPH1	OMIM:620083
HP:0000765	Abnormal thorax morphology	7227	TRPS1	OMIM:190350
HP:0000765	Abnormal thorax morphology	7227	TRPS1	ORPHA:77258
HP:0000765	Abnormal thorax morphology	2263	FGFR2	OMIM:101200
HP:0000765	Abnormal thorax morphology	9759	HDAC4	OMIM:619797
HP:0000765	Abnormal thorax morphology	579	NKX3-2	OMIM:613330
HP:0000765	Abnormal thorax morphology	1305	COL13A1	OMIM:616720
HP:0000765	Abnormal thorax morphology	1305	COL13A1	ORPHA:98914
HP:0000765	Abnormal thorax morphology	9842	PLEKHM1	OMIM:618107
HP:0000765	Abnormal thorax morphology	256297	PTF1A	OMIM:609069
HP:0000765	Abnormal thorax morphology	411	ARSB	OMIM:253200
HP:0000765	Abnormal thorax morphology	1436	CSF1R	OMIM:618476
HP:0000765	Abnormal thorax morphology	10525	HYOU1	OMIM:233600
HP:0000765	Abnormal thorax morphology	2720	GLB1	ORPHA:79255
HP:0000765	Abnormal thorax morphology	3039	HBA1	ORPHA:98791
HP:0000765	Abnormal thorax morphology	3040	HBA2	ORPHA:98791
HP:0000765	Abnormal thorax morphology	29920	PYCR2	ORPHA:481152
HP:0000765	Abnormal thorax morphology	3188	HNRNPH2	OMIM:300986
HP:0000765	Abnormal thorax morphology	64374	SIL1	ORPHA:559
HP:0000765	Abnormal thorax morphology	51763	INPP5K	ORPHA:559
HP:0000765	Abnormal thorax morphology	7138	TNNT1	OMIM:605355
HP:0000765	Abnormal thorax morphology	7138	TNNT1	ORPHA:98902
HP:0000765	Abnormal thorax morphology	3852	KRT5	OMIM:619599
HP:0000765	Abnormal thorax morphology	94005	PIGS	OMIM:618143
HP:0000765	Abnormal thorax morphology	2588	GALNS	OMIM:253000
HP:0000765	Abnormal thorax morphology	23233	EXOC6B	ORPHA:93359
HP:0000765	Abnormal thorax morphology	7343	UBTF	ORPHA:500180
HP:0000765	Abnormal thorax morphology	8720	MBTPS1	OMIM:618392
HP:0000765	Abnormal thorax morphology	9373	PLAA	ORPHA:521426
HP:0000765	Abnormal thorax morphology	9373	PLAA	OMIM:617527
HP:0000765	Abnormal thorax morphology	60482	SLC5A7	ORPHA:98914
HP:0000765	Abnormal thorax morphology	4649	MYO9A	ORPHA:98914
HP:0000765	Abnormal thorax morphology	1103	CHAT	ORPHA:98914
HP:0000765	Abnormal thorax morphology	6576	SLC25A1	ORPHA:98914
HP:0000765	Abnormal thorax morphology	6843	VAMP1	ORPHA:98914
HP:0000765	Abnormal thorax morphology	375790	AGRN	ORPHA:98914
HP:0000765	Abnormal thorax morphology	127833	SYT2	ORPHA:98914
HP:0000765	Abnormal thorax morphology	6572	SLC18A3	ORPHA:98914
HP:0000765	Abnormal thorax morphology	6616	SNAP25	ORPHA:98914
HP:0000765	Abnormal thorax morphology	54676	GTPBP2	OMIM:617988
HP:0000765	Abnormal thorax morphology	403	ARL3	OMIM:618161
HP:0000765	Abnormal thorax morphology	2990	GUSB	OMIM:253220
HP:0000765	Abnormal thorax morphology	203190	LGI3	OMIM:620007
HP:0000765	Abnormal thorax morphology	92344	GORAB	ORPHA:2078
HP:0000765	Abnormal thorax morphology	129285	PPP1R21	OMIM:619383
HP:0000765	Abnormal thorax morphology	83452	RAB33B	OMIM:615222
HP:0000765	Abnormal thorax morphology	92935	MARS2	OMIM:616430
HP:0000765	Abnormal thorax morphology	121340	SP7	OMIM:613849
HP:0000765	Abnormal thorax morphology	9871	SEC24D	ORPHA:2050
HP:0000765	Abnormal thorax morphology	5034	P4HB	ORPHA:2050
HP:0000765	Abnormal thorax morphology	2733	GLE1	ORPHA:1486
HP:0000765	Abnormal thorax morphology	1131	CHRM3	ORPHA:2970
HP:0000765	Abnormal thorax morphology	7473	WNT3	ORPHA:3301
HP:0000765	Abnormal thorax morphology	10312	TCIRG1	ORPHA:667
HP:0000765	Abnormal thorax morphology	1186	CLCN7	ORPHA:667
HP:0000765	Abnormal thorax morphology	29887	SNX10	ORPHA:667
HP:0000765	Abnormal thorax morphology	8600	TNFSF11	ORPHA:667
HP:0000765	Abnormal thorax morphology	1717	DHCR7	ORPHA:818
HP:0000765	Abnormal thorax morphology	9723	SEMA3E	ORPHA:138
HP:0000765	Abnormal thorax morphology	4952	OCRL	ORPHA:534
HP:0000765	Abnormal thorax morphology	4038	LRP4	ORPHA:3258
HP:0000765	Abnormal thorax morphology	324	APC	ORPHA:3258
HP:0000765	Abnormal thorax morphology	6023	RMRP	ORPHA:175
HP:0000765	Abnormal thorax morphology	134701	RIPPLY2	ORPHA:2311
HP:0000765	Abnormal thorax morphology	10683	DLL3	ORPHA:2311
HP:0000765	Abnormal thorax morphology	3955	LFNG	ORPHA:2311
HP:0000765	Abnormal thorax morphology	84667	HES7	ORPHA:2311
HP:0000765	Abnormal thorax morphology	145873	MESP2	ORPHA:2311
HP:0000765	Abnormal thorax morphology	157570	ESCO2	ORPHA:2319
HP:0000765	Abnormal thorax morphology	81620	CDT1	ORPHA:2554
HP:0000765	Abnormal thorax morphology	5000	ORC4	ORPHA:2554
HP:0000765	Abnormal thorax morphology	8318	CDC45	ORPHA:2554
HP:0000765	Abnormal thorax morphology	990	CDC6	ORPHA:2554
HP:0000765	Abnormal thorax morphology	51053	GMNN	ORPHA:2554
HP:0000765	Abnormal thorax morphology	55112	DYNC2I1	ORPHA:474
HP:0000765	Abnormal thorax morphology	153241	CEP120	ORPHA:474
HP:0000765	Abnormal thorax morphology	57560	IFT80	ORPHA:474
HP:0000765	Abnormal thorax morphology	51626	DYNC2LI1	ORPHA:474
HP:0000765	Abnormal thorax morphology	57728	WDR19	ORPHA:474
HP:0000765	Abnormal thorax morphology	89891	DYNC2I2	ORPHA:474
HP:0000765	Abnormal thorax morphology	79809	TTC21B	ORPHA:474
HP:0000765	Abnormal thorax morphology	3425	IDUA	ORPHA:93473
HP:0000765	Abnormal thorax morphology	28514	DLL1	ORPHA:280195
HP:0000765	Abnormal thorax morphology	2253	FGF8	ORPHA:280195
HP:0000765	Abnormal thorax morphology	6496	SIX3	ORPHA:280195
HP:0000765	Abnormal thorax morphology	7050	TGIF1	ORPHA:280195
HP:0000765	Abnormal thorax morphology	4838	NODAL	ORPHA:280195
HP:0000765	Abnormal thorax morphology	6469	SHH	ORPHA:280195
HP:0000765	Abnormal thorax morphology	7546	ZIC2	ORPHA:280195
HP:0000765	Abnormal thorax morphology	6491	STIL	ORPHA:280195
HP:0000765	Abnormal thorax morphology	2619	GAS1	ORPHA:280195
HP:0000765	Abnormal thorax morphology	84976	DISP1	ORPHA:280195
HP:0000765	Abnormal thorax morphology	2736	GLI2	ORPHA:280195
HP:0000765	Abnormal thorax morphology	8928	FOXH1	ORPHA:280195
HP:0000765	Abnormal thorax morphology	50937	CDON	ORPHA:280195
HP:0000765	Abnormal thorax morphology	182	JAG1	OMIM:118450
HP:0000765	Abnormal thorax morphology	6299	SALL1	ORPHA:857
HP:0000765	Abnormal thorax morphology	51339	DACT1	ORPHA:857
HP:0000765	Abnormal thorax morphology	55612	FERMT1	ORPHA:2908
HP:0000765	Abnormal thorax morphology	3664	IRF6	ORPHA:1300
HP:0000765	Abnormal thorax morphology	3239	HOXD13	ORPHA:887
HP:0000765	Abnormal thorax morphology	4089	SMAD4	ORPHA:2588
HP:0000765	Abnormal thorax morphology	6608	SMO	OMIM:241800
HP:0000765	Abnormal thorax morphology	249	ALPL	OMIM:241500
HP:0000765	Abnormal thorax morphology	2146	EZH2	OMIM:277590
HP:0000765	Abnormal thorax morphology	79087	ALG12	OMIM:607143
HP:0000765	Abnormal thorax morphology	26005	C2CD3	OMIM:615948
HP:0000765	Abnormal thorax morphology	55906	ZC4H2	OMIM:301041
HP:0000765	Abnormal thorax morphology	55906	ZC4H2	OMIM:314580
HP:0000765	Abnormal thorax morphology	23556	PIGN	ORPHA:2059
HP:0000765	Abnormal thorax morphology	23556	PIGN	ORPHA:280633
HP:0000765	Abnormal thorax morphology	72	ACTG2	ORPHA:2604
HP:0000765	Abnormal thorax morphology	846	CASR	ORPHA:417
HP:0000765	Abnormal thorax morphology	846	CASR	OMIM:239200
HP:0000765	Abnormal thorax morphology	1741	DLG3	OMIM:300850
HP:0000765	Abnormal thorax morphology	10484	SEC23A	ORPHA:50814
HP:0000765	Abnormal thorax morphology	10484	SEC23A	OMIM:607812
HP:0000765	Abnormal thorax morphology	79867	TCTN2	OMIM:613885
HP:0000765	Abnormal thorax morphology	79633	FAT4	OMIM:615546
HP:0000765	Abnormal thorax morphology	79633	FAT4	ORPHA:2136
HP:0000765	Abnormal thorax morphology	8642	DCHS1	OMIM:601390
HP:0000765	Abnormal thorax morphology	9508	ADAMTS3	ORPHA:2136
HP:0000765	Abnormal thorax morphology	3675	ITGA3	OMIM:614748
HP:0000765	Abnormal thorax morphology	2571	GAD1	OMIM:619124
HP:0000765	Abnormal thorax morphology	7291	TWIST1	OMIM:617746
HP:0000765	Abnormal thorax morphology	5331	PLCB3	OMIM:618961
HP:0000765	Abnormal thorax morphology	6657	SOX2	ORPHA:77298
HP:0000765	Abnormal thorax morphology	65250	CPLANE1	OMIM:277170
HP:0000765	Abnormal thorax morphology	259232	NALCN	OMIM:616266
HP:0000765	Abnormal thorax morphology	650	BMP2	OMIM:617877
HP:0000765	Abnormal thorax morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000765	Abnormal thorax morphology	1861	TOR1A	OMIM:618947
HP:0000765	Abnormal thorax morphology	55835	CENPJ	OMIM:613676
HP:0000765	Abnormal thorax morphology	5557	PRIM1	OMIM:620005
HP:0000765	Abnormal thorax morphology	22800	RRAS2	OMIM:618624
HP:0000765	Abnormal thorax morphology	1788	DNMT3A	OMIM:618724
HP:0000765	Abnormal thorax morphology	8854	ALDH1A2	OMIM:620025
HP:0000765	Abnormal thorax morphology	5590	PRKCZ	ORPHA:1606
HP:0000765	Abnormal thorax morphology	2563	GABRD	ORPHA:1606
HP:0000765	Abnormal thorax morphology	23013	SPEN	ORPHA:1606
HP:0000765	Abnormal thorax morphology	8510	MMP23B	ORPHA:1606
HP:0000765	Abnormal thorax morphology	7798	LUZP1	ORPHA:1606
HP:0000765	Abnormal thorax morphology	6497	SKI	ORPHA:1606
HP:0000765	Abnormal thorax morphology	10630	PDPN	ORPHA:1606
HP:0000765	Abnormal thorax morphology	10277	UBE4B	ORPHA:1606
HP:0000765	Abnormal thorax morphology	8514	KCNAB2	ORPHA:1606
HP:0000765	Abnormal thorax morphology	473	RERE	ORPHA:1606
HP:0000765	Abnormal thorax morphology	63976	PRDM16	ORPHA:1606
HP:0000765	Abnormal thorax morphology	54897	CASZ1	ORPHA:1606
HP:0000765	Abnormal thorax morphology	526	ATP6V1B2	ORPHA:79500
HP:0000765	Abnormal thorax morphology	57465	TBC1D24	ORPHA:79500
HP:0000765	Abnormal thorax morphology	10236	HNRNPR	OMIM:620073
HP:0000765	Abnormal thorax morphology	222663	SCUBE3	OMIM:619184
HP:0000765	Abnormal thorax morphology	26229	B3GAT3	OMIM:245600
HP:0000765	Abnormal thorax morphology	4927	NUP88	OMIM:618393
HP:0000765	Abnormal thorax morphology	10013	HDAC6	OMIM:300863
HP:0000765	Abnormal thorax morphology	23114	NFASC	OMIM:618356
HP:0000765	Abnormal thorax morphology	11041	B4GAT1	OMIM:615287
HP:0000765	Abnormal thorax morphology	8942	KYNU	OMIM:617661
HP:0000765	Abnormal thorax morphology	545	ATR	OMIM:210600
HP:0000765	Abnormal thorax morphology	93627	TBCK	ORPHA:488632
HP:0000765	Abnormal thorax morphology	29980	DONSON	OMIM:617604
HP:0000765	Abnormal thorax morphology	22995	CEP152	OMIM:613823
HP:0000765	Abnormal thorax morphology	2879	GPX4	OMIM:250220
HP:0000765	Abnormal thorax morphology	126792	B3GALT6	OMIM:271640
HP:0000765	Abnormal thorax morphology	4784	NFIX	OMIM:602535
HP:0000765	Abnormal thorax morphology	57492	ARID1B	OMIM:135900
HP:0000765	Abnormal thorax morphology	25836	NIPBL	OMIM:122470
HP:0000765	Abnormal thorax morphology	79583	TMEM231	ORPHA:2752
HP:0000765	Abnormal thorax morphology	701	BUB1B	OMIM:257300
HP:0000765	Abnormal thorax morphology	9241	NOG	OMIM:186500
HP:0000765	Abnormal thorax morphology	4036	LRP2	OMIM:222448
HP:0000765	Abnormal thorax morphology	7703	PCGF2	OMIM:618371
HP:0000765	Abnormal thorax morphology	2719	GPC3	OMIM:312870
HP:0000765	Abnormal thorax morphology	2239	GPC4	OMIM:312870
HP:0000765	Abnormal thorax morphology	118924	FRA10AC1	OMIM:620113
HP:0000765	Abnormal thorax morphology	26040	SETBP1	OMIM:269150
HP:0000765	Abnormal thorax morphology	3911	LAMA5	OMIM:620076
HP:0000765	Abnormal thorax morphology	8241	RBM10	ORPHA:2886
HP:0000765	Abnormal thorax morphology	8241	RBM10	OMIM:311900
HP:0000765	Abnormal thorax morphology	54808	DYM	OMIM:223800
HP:0000765	Abnormal thorax morphology	54808	DYM	OMIM:607326
HP:0000765	Abnormal thorax morphology	9321	TRIP11	OMIM:200600
HP:0000765	Abnormal thorax morphology	340419	RSPO2	OMIM:618022
HP:0000765	Abnormal thorax morphology	50814	NSDHL	OMIM:308050
HP:0000765	Abnormal thorax morphology	2260	FGFR1	OMIM:166250
HP:0000765	Abnormal thorax morphology	1280	COL2A1	ORPHA:85166
HP:0000765	Abnormal thorax morphology	3636	INPPL1	ORPHA:3144
HP:0000765	Abnormal thorax morphology	23169	SLC35D1	ORPHA:3144
HP:0000765	Abnormal thorax morphology	23169	SLC35D1	OMIM:269250
HP:0000765	Abnormal thorax morphology	6913	TBX15	ORPHA:93333
HP:0000765	Abnormal thorax morphology	6913	TBX15	OMIM:260660
HP:0000765	Abnormal thorax morphology	145258	GSC	OMIM:602471
HP:0000765	Abnormal thorax morphology	5447	POR	ORPHA:95699
HP:0000765	Abnormal thorax morphology	9896	FIG4	OMIM:216340
HP:0000765	Abnormal thorax morphology	60	ACTB	ORPHA:79107
HP:0000765	Abnormal thorax morphology	60	ACTB	OMIM:607371
HP:0000765	Abnormal thorax morphology	57539	WDR35	OMIM:614091
HP:0000765	Abnormal thorax morphology	6926	TBX3	OMIM:181450
HP:0000765	Abnormal thorax morphology	91179	SCARF2	OMIM:600920
HP:0000765	Abnormal thorax morphology	1301	COL11A1	OMIM:228520
HP:0000765	Abnormal thorax morphology	1301	COL11A1	ORPHA:2021
HP:0000765	Abnormal thorax morphology	1301	COL11A1	ORPHA:440354
HP:0000765	Abnormal thorax morphology	54101	RIPK4	OMIM:263650
HP:0000765	Abnormal thorax morphology	2316	FLNA	OMIM:309350
HP:0000765	Abnormal thorax morphology	6662	SOX9	OMIM:114290
HP:0000765	Abnormal thorax morphology	5116	PCNT	OMIM:210720
HP:0000765	Abnormal thorax morphology	1302	COL11A2	ORPHA:2021
HP:0000765	Abnormal thorax morphology	5696	PSMB8	OMIM:256040
HP:0000765	Abnormal thorax morphology	388015	RTL1	ORPHA:96334
HP:0000765	Abnormal thorax morphology	8788	DLK1	ORPHA:96334
HP:0000765	Abnormal thorax morphology	55384	MEG3	ORPHA:96334
HP:0000765	Abnormal thorax morphology	79158	GNPTAB	OMIM:252500
HP:0000765	Abnormal thorax morphology	10046	MAMLD1	ORPHA:456328
HP:0000765	Abnormal thorax morphology	4534	MTM1	ORPHA:456328
HP:0000765	Abnormal thorax morphology	5530	PPP3CA	OMIM:618265
HP:0000765	Abnormal thorax morphology	11128	POLR3A	OMIM:264090
HP:0000765	Abnormal thorax morphology	274	BIN1	ORPHA:169189
HP:0000765	Abnormal thorax morphology	64419	MTMR14	ORPHA:169189
HP:0000765	Abnormal thorax morphology	4618	MYF6	ORPHA:169189
HP:0000765	Abnormal thorax morphology	1785	DNM2	ORPHA:169189
HP:0000765	Abnormal thorax morphology	1785	DNM2	OMIM:615368
HP:0000765	Abnormal thorax morphology	131377	KLHL40	ORPHA:171430
HP:0000765	Abnormal thorax morphology	25914	RTTN	OMIM:614833
HP:0000765	Abnormal thorax morphology	64175	P3H1	OMIM:610915
HP:0000765	Abnormal thorax morphology	11274	USP18	OMIM:617397
HP:0000765	Abnormal thorax morphology	55603	TENT5A	OMIM:617952
HP:0000765	Abnormal thorax morphology	8815	BANF1	OMIM:614008
HP:0000765	Abnormal thorax morphology	3977	LIFR	OMIM:601559
HP:0000765	Abnormal thorax morphology	7471	WNT1	OMIM:615220
HP:0000765	Abnormal thorax morphology	1144	CHRND	OMIM:253290
HP:0000765	Abnormal thorax morphology	1134	CHRNA1	OMIM:253290
HP:0000765	Abnormal thorax morphology	63901	FAM111A	OMIM:602361
HP:0000765	Abnormal thorax morphology	9131	AIFM1	OMIM:300232
HP:0000765	Abnormal thorax morphology	23414	ZFPM2	ORPHA:2140
HP:0000765	Abnormal thorax morphology	9361	LONP1	ORPHA:2140
HP:0000765	Abnormal thorax morphology	7030	TFE3	OMIM:301066
HP:0000765	Abnormal thorax morphology	79639	TMEM53	OMIM:619727
HP:0000765	Abnormal thorax morphology	3557	IL1RN	OMIM:612852
HP:0000765	Abnormal thorax morphology	3764	KCNJ8	ORPHA:1517
HP:0000765	Abnormal thorax morphology	10060	ABCC9	ORPHA:1517
HP:0000765	Abnormal thorax morphology	81794	ADAMTS10	OMIM:277600
HP:0000765	Abnormal thorax morphology	79631	EFL1	ORPHA:811
HP:0000765	Abnormal thorax morphology	7317	UBA1	ORPHA:1145
HP:0000765	Abnormal thorax morphology	5130	PCYT1A	OMIM:608940
HP:0000765	Abnormal thorax morphology	5130	PCYT1A	ORPHA:85167
HP:0000765	Abnormal thorax morphology	2121	EVC	OMIM:225500
HP:0000765	Abnormal thorax morphology	132884	EVC2	OMIM:225500
HP:0000765	Abnormal thorax morphology	4750	NEK1	OMIM:263520
HP:0000765	Abnormal thorax morphology	27152	INTU	OMIM:617925
HP:0000765	Abnormal thorax morphology	23363	OBSL1	ORPHA:2616
HP:0000765	Abnormal thorax morphology	83987	CCDC8	ORPHA:2616
HP:0000765	Abnormal thorax morphology	255758	DYNLT2B	OMIM:617405
HP:0000765	Abnormal thorax morphology	5826	ABCD4	OMIM:614857
HP:0000765	Abnormal thorax morphology	2697	GJA1	ORPHA:2710
HP:0000765	Abnormal thorax morphology	60681	FKBP10	ORPHA:1149
HP:0000765	Abnormal thorax morphology	2737	GLI3	ORPHA:36
HP:0000765	Abnormal thorax morphology	1513	CTSK	ORPHA:763
HP:0000765	Abnormal thorax morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000765	Abnormal thorax morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000765	Abnormal thorax morphology	84168	ANTXR1	ORPHA:2067
HP:0000765	Abnormal thorax morphology	6905	TBCE	OMIM:244460
HP:0000765	Abnormal thorax morphology	3248	HPGD	OMIM:259100
HP:0000765	Abnormal thorax morphology	2627	GATA6	OMIM:600001
HP:0000765	Abnormal thorax morphology	2627	GATA6	ORPHA:2255
HP:0000765	Abnormal thorax morphology	22827	PUF60	ORPHA:508488
HP:0000765	Abnormal thorax morphology	5159	PDGFRB	OMIM:601812
HP:0000765	Abnormal thorax morphology	29123	ANKRD11	OMIM:148050
HP:0000765	Abnormal thorax morphology	29123	ANKRD11	ORPHA:2332
HP:0000765	Abnormal thorax morphology	6651	SON	OMIM:617140
HP:0000765	Abnormal thorax morphology	6651	SON	ORPHA:500150
HP:0000765	Abnormal thorax morphology	3899	AFF3	OMIM:619297
HP:0000765	Abnormal thorax morphology	9939	RBM8A	ORPHA:3320
HP:0000765	Abnormal thorax morphology	9939	RBM8A	OMIM:274000
HP:0000765	Abnormal thorax morphology	10992	SF3B2	OMIM:164210
HP:0000765	Abnormal thorax morphology	55081	IFT57	OMIM:617927
HP:0000765	Abnormal thorax morphology	7421	VDR	OMIM:277440
HP:0000765	Abnormal thorax morphology	120227	CYP2R1	OMIM:600081
HP:0000765	Abnormal thorax morphology	1594	CYP27B1	OMIM:264700
HP:0000765	Abnormal thorax morphology	142680	SLC34A3	OMIM:241530
HP:0000765	Abnormal thorax morphology	4488	MSX2	ORPHA:60015
HP:0000765	Abnormal thorax morphology	4488	MSX2	OMIM:168550
HP:0000765	Abnormal thorax morphology	60529	ALX4	ORPHA:60015
HP:0000765	Abnormal thorax morphology	1108	CHD4	OMIM:617159
HP:0000765	Abnormal thorax morphology	267010	RNU12	OMIM:603116
HP:0000765	Abnormal thorax morphology	221496	LEMD2	OMIM:619322
HP:0000765	Abnormal thorax morphology	26224	FBXL3	OMIM:606220
HP:0000765	Abnormal thorax morphology	1497	CTNS	OMIM:219800
HP:0000765	Abnormal thorax morphology	6569	SLC34A1	ORPHA:157215
HP:0000765	Abnormal thorax morphology	3423	IDS	ORPHA:217085
HP:0000765	Abnormal thorax morphology	3423	IDS	ORPHA:217093
HP:0000765	Abnormal thorax morphology	6448	SGSH	OMIM:252900
HP:0000765	Abnormal thorax morphology	138050	HGSNAT	OMIM:252930
HP:0000765	Abnormal thorax morphology	4669	NAGLU	OMIM:252920
HP:0000765	Abnormal thorax morphology	9401	RECQL4	OMIM:218600
HP:0000765	Abnormal thorax morphology	25970	SH2B1	ORPHA:261197
HP:0000765	Abnormal thorax morphology	4953	ODC1	ORPHA:544488
HP:0000765	Abnormal thorax morphology	100	ADA	OMIM:102700
HP:0000765	Abnormal thorax morphology	5077	PAX3	ORPHA:894
HP:0000765	Abnormal thorax morphology	5077	PAX3	OMIM:193500
HP:0000765	Abnormal thorax morphology	1947	EFNB1	OMIM:304110
HP:0000765	Abnormal thorax morphology	1947	EFNB1	ORPHA:1520
HP:0000765	Abnormal thorax morphology	6909	TBX2	OMIM:618223
HP:0000765	Abnormal thorax morphology	6910	TBX5	ORPHA:392
HP:0000765	Abnormal thorax morphology	392255	GDF6	OMIM:118100
HP:0000765	Abnormal thorax morphology	392255	GDF6	ORPHA:2345
HP:0000765	Abnormal thorax morphology	6135	RPL11	OMIM:612562
HP:0000765	Abnormal thorax morphology	6135	RPL11	ORPHA:124
HP:0000765	Abnormal thorax morphology	6885	MAP3K7	ORPHA:1826
HP:0000765	Abnormal thorax morphology	54499	TMCO1	OMIM:213980
HP:0000765	Abnormal thorax morphology	54499	TMCO1	ORPHA:1394
HP:0000765	Abnormal thorax morphology	4882	NPR2	ORPHA:40
HP:0000765	Abnormal thorax morphology	5894	RAF1	ORPHA:500
HP:0000765	Abnormal thorax morphology	2273	FHL1	ORPHA:98863
HP:0000765	Abnormal thorax morphology	2010	EMD	ORPHA:98863
HP:0000765	Abnormal thorax morphology	1000	CDH2	OMIM:618929
HP:0000765	Abnormal thorax morphology	10262	SF3B4	ORPHA:1788
HP:0000765	Abnormal thorax morphology	6138	RPL15	ORPHA:124
HP:0000765	Abnormal thorax morphology	6229	RPS24	ORPHA:124
HP:0000765	Abnormal thorax morphology	6125	RPL5	ORPHA:124
HP:0000765	Abnormal thorax morphology	6204	RPS10	ORPHA:124
HP:0000765	Abnormal thorax morphology	6224	RPS20	ORPHA:124
HP:0000765	Abnormal thorax morphology	6165	RPL35A	ORPHA:124
HP:0000765	Abnormal thorax morphology	2623	GATA1	ORPHA:124
HP:0000765	Abnormal thorax morphology	6223	RPS19	ORPHA:124
HP:0000765	Abnormal thorax morphology	6232	RPS27	ORPHA:124
HP:0000765	Abnormal thorax morphology	6231	RPS26	ORPHA:124
HP:0000765	Abnormal thorax morphology	11224	RPL35	ORPHA:124
HP:0000765	Abnormal thorax morphology	6160	RPL31	ORPHA:124
HP:0000765	Abnormal thorax morphology	6218	RPS17	ORPHA:124
HP:0000765	Abnormal thorax morphology	6201	RPS7	ORPHA:124
HP:0000765	Abnormal thorax morphology	6155	RPL27	ORPHA:124
HP:0000765	Abnormal thorax morphology	6154	RPL26	ORPHA:124
HP:0000765	Abnormal thorax morphology	6210	RPS15A	ORPHA:124
HP:0000765	Abnormal thorax morphology	90121	TSR2	ORPHA:124
HP:0000765	Abnormal thorax morphology	6141	RPL18	ORPHA:124
HP:0000765	Abnormal thorax morphology	6235	RPS29	ORPHA:124
HP:0000765	Abnormal thorax morphology	6234	RPS28	ORPHA:124
HP:0000765	Abnormal thorax morphology	51816	ADA2	ORPHA:124
HP:0000765	Abnormal thorax morphology	1281	COL3A1	ORPHA:286
HP:0000765	Abnormal thorax morphology	9573	GDF3	ORPHA:2345
HP:0000765	Abnormal thorax morphology	4222	MEOX1	ORPHA:2345
HP:0000765	Abnormal thorax morphology	4222	MEOX1	OMIM:214300
HP:0000765	Abnormal thorax morphology	10801	SEPTIN9	ORPHA:2901
HP:0000765	Abnormal thorax morphology	51729	WBP11	OMIM:619227
HP:0000765	Abnormal thorax morphology	79188	TMEM43	ORPHA:98853
HP:0000765	Abnormal thorax morphology	23345	SYNE1	ORPHA:98853
HP:0000765	Abnormal thorax morphology	23224	SYNE2	ORPHA:98853
HP:0000765	Abnormal thorax morphology	5727	PTCH1	OMIM:109400
HP:0000765	Abnormal thorax morphology	6911	TBX6	ORPHA:1797
HP:0000765	Abnormal thorax morphology	6911	TBX6	OMIM:122600
HP:0000765	Abnormal thorax morphology	2294	FOXF1	OMIM:265380
HP:0000765	Abnormal thorax morphology	64132	XYLT2	OMIM:605822
HP:0000765	Abnormal thorax morphology	10940	POP1	OMIM:617396
HP:0000765	Abnormal thorax morphology	9469	CHST3	OMIM:143095
HP:0000765	Abnormal thorax morphology	2517	FUCA1	OMIM:230000
HP:0000765	Abnormal thorax morphology	55969	RAB5IF	OMIM:616994
HP:0000765	Abnormal thorax morphology	54361	WNT4	ORPHA:247768
HP:0000765	Abnormal thorax morphology	6399	TRAPPC2	OMIM:313400
HP:0000765	Abnormal thorax morphology	10847	SRCAP	ORPHA:2044
HP:0000765	Abnormal thorax morphology	8216	LZTR1	OMIM:605275
HP:0000765	Abnormal thorax morphology	3845	KRAS	OMIM:609942
HP:0000765	Abnormal thorax morphology	59341	TRPV4	ORPHA:93314
HP:0000765	Abnormal thorax morphology	3417	IDH1	ORPHA:99646
HP:0000765	Abnormal thorax morphology	6654	SOS1	OMIM:610733
HP:0000765	Abnormal thorax morphology	4313	MMP2	ORPHA:371428
HP:0000765	Abnormal thorax morphology	4323	MMP14	ORPHA:371428
HP:0000765	Abnormal thorax morphology	50964	SOST	OMIM:269500
HP:0000765	Abnormal thorax morphology	114803	MYSM1	ORPHA:508542
HP:0000765	Abnormal thorax morphology	9791	PTDSS1	OMIM:151050
HP:0000765	Abnormal thorax morphology	7476	WNT7A	OMIM:276820
HP:0000765	Abnormal thorax morphology	285590	SH3PXD2B	OMIM:249420
HP:0000765	Abnormal thorax morphology	538	ATP7A	OMIM:304150
HP:0000765	Abnormal thorax morphology	153642	ARSK	OMIM:619698
HP:0000765	Abnormal thorax morphology	5745	PTH1R	ORPHA:50945
HP:0000765	Abnormal thorax morphology	4763	NF1	OMIM:601321
HP:0000765	Abnormal thorax morphology	5604	MAP2K1	OMIM:163950
HP:0000765	Abnormal thorax morphology	5781	PTPN11	OMIM:163950
HP:0000765	Abnormal thorax morphology	673	BRAF	OMIM:163950
HP:0000765	Abnormal thorax morphology	2131	EXT1	ORPHA:321
HP:0000765	Abnormal thorax morphology	2131	EXT1	OMIM:133700
HP:0000765	Abnormal thorax morphology	2132	EXT2	ORPHA:321
HP:0000765	Abnormal thorax morphology	2132	EXT2	OMIM:133701
HP:0000765	Abnormal thorax morphology	415	ARSL	ORPHA:79345
HP:0000765	Abnormal thorax morphology	5593	PRKG2	OMIM:619636
HP:0000765	Abnormal thorax morphology	5251	PHEX	ORPHA:89936
HP:0000765	Abnormal thorax morphology	9897	WASHC5	OMIM:220210
HP:0000765	Abnormal thorax morphology	9897	WASHC5	ORPHA:7
HP:0000765	Abnormal thorax morphology	10606	PAICS	OMIM:619859
HP:0000765	Abnormal thorax morphology	81839	VANGL1	ORPHA:3027
HP:0000765	Abnormal thorax morphology	80199	FUZ	ORPHA:3027
HP:0000765	Abnormal thorax morphology	28952	CCDC22	ORPHA:7
HP:0000765	Abnormal thorax morphology	4990	SIX6	OMIM:206900
HP:0000765	Abnormal thorax morphology	2313	FLI1	ORPHA:2308
HP:0000765	Abnormal thorax morphology	90993	CREB3L1	OMIM:616229
HP:0000765	Abnormal thorax morphology	23592	LEMD3	ORPHA:166119
HP:0000765	Abnormal thorax morphology	367	AR	OMIM:312300
HP:0000765	Abnormal thorax morphology	9451	EIF2AK3	OMIM:226980
HP:0000765	Abnormal thorax morphology	22858	CILK1	OMIM:612651
HP:0000765	Abnormal thorax morphology	176	ACAN	ORPHA:171866
HP:0000765	Abnormal thorax morphology	176	ACAN	OMIM:612813
HP:0000765	Abnormal thorax morphology	23184	MESD	OMIM:618644
HP:0000765	Abnormal thorax morphology	8925	HERC1	ORPHA:457359
HP:0000765	Abnormal thorax morphology	3481	IGF2	ORPHA:2128
HP:0000765	Abnormal thorax morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0000765	Abnormal thorax morphology	283120	H19	ORPHA:2128
HP:0000765	Abnormal thorax morphology	124583	CANT1	ORPHA:1425
HP:0000765	Abnormal thorax morphology	89910	UBE3B	OMIM:244450
HP:0000765	Abnormal thorax morphology	51025	PAM16	OMIM:613320
HP:0000765	Abnormal thorax morphology	5081	PAX7	OMIM:618578
HP:0000765	Abnormal thorax morphology	5189	PEX1	OMIM:214100
HP:0000765	Abnormal thorax morphology	339855	KY	OMIM:617114
HP:0000765	Abnormal thorax morphology	124997	WDR81	OMIM:610185
HP:0000765	Abnormal thorax morphology	1593	CYP27A1	ORPHA:909
HP:0000765	Abnormal thorax morphology	404672	GTF2H5	ORPHA:33364
HP:0000765	Abnormal thorax morphology	833	CARS1	ORPHA:33364
HP:0000765	Abnormal thorax morphology	2068	ERCC2	ORPHA:33364
HP:0000765	Abnormal thorax morphology	7737	RNF113A	ORPHA:33364
HP:0000765	Abnormal thorax morphology	136647	MPLKIP	ORPHA:33364
HP:0000765	Abnormal thorax morphology	6897	TARS1	ORPHA:33364
HP:0000765	Abnormal thorax morphology	2071	ERCC3	ORPHA:33364
HP:0000765	Abnormal thorax morphology	2961	GTF2E2	ORPHA:33364
HP:0000765	Abnormal thorax morphology	4796	TONSL	OMIM:271510
HP:0000765	Abnormal thorax morphology	224	ALDH3A2	OMIM:270200
HP:0000765	Abnormal thorax morphology	23133	PHF8	OMIM:300263
HP:0000765	Abnormal thorax morphology	6261	RYR1	OMIM:619542
HP:0000765	Abnormal thorax morphology	50485	SMARCAL1	OMIM:242900
HP:0000765	Abnormal thorax morphology	79644	SRD5A3	OMIM:612713
HP:0000765	Abnormal thorax morphology	1756	DMD	ORPHA:206546
HP:0000765	Abnormal thorax morphology	5296	PIK3R2	OMIM:603387
HP:0000765	Abnormal thorax morphology	7840	ALMS1	ORPHA:64
HP:0000765	Abnormal thorax morphology	91574	MTRFR	ORPHA:254930
HP:0000765	Abnormal thorax morphology	3094	HINT1	ORPHA:324442
HP:0000765	Abnormal thorax morphology	10381	TUBB3	ORPHA:300570
HP:0000765	Abnormal thorax morphology	4625	MYH7	OMIM:255160
HP:0000765	Abnormal thorax morphology	7841	MOGS	OMIM:606056
HP:0000765	Abnormal thorax morphology	7841	MOGS	ORPHA:79330
HP:0000765	Abnormal thorax morphology	6442	SGCA	ORPHA:62
HP:0000765	Abnormal thorax morphology	8085	KMT2D	OMIM:620186
HP:0000765	Abnormal thorax morphology	10613	ERLIN1	ORPHA:401785
HP:0000765	Abnormal thorax morphology	10613	ERLIN1	OMIM:615681
HP:0000765	Abnormal thorax morphology	10733	PLK4	OMIM:616171
HP:0000765	Abnormal thorax morphology	91754	NEK9	OMIM:617022
HP:0000765	Abnormal thorax morphology	9531	BAG3	OMIM:612954
HP:0000765	Abnormal thorax morphology	5830	PEX5	OMIM:616716
HP:0000765	Abnormal thorax morphology	2799	GNS	OMIM:252940
HP:0000765	Abnormal thorax morphology	9382	COG1	OMIM:611209
HP:0000765	Abnormal thorax morphology	5932	RBBP8	OMIM:251255
HP:0000765	Abnormal thorax morphology	6775	STAT4	ORPHA:85408
HP:0000765	Abnormal thorax morphology	3560	IL2RB	ORPHA:85408
HP:0000765	Abnormal thorax morphology	79722	ANKRD55	ORPHA:85408
HP:0000765	Abnormal thorax morphology	26191	PTPN22	ORPHA:85408
HP:0000765	Abnormal thorax morphology	919	CD247	ORPHA:85408
HP:0000765	Abnormal thorax morphology	3559	IL2RA	ORPHA:85408
HP:0000765	Abnormal thorax morphology	5771	PTPN2	ORPHA:85408
HP:0000765	Abnormal thorax morphology	5621	PRNP	ORPHA:157941
HP:0000765	Abnormal thorax morphology	8838	CCN6	ORPHA:1159
HP:0000765	Abnormal thorax morphology	55733	HHAT	ORPHA:1422
HP:0000765	Abnormal thorax morphology	3714	JAG2	OMIM:619566
HP:0000765	Abnormal thorax morphology	29895	MYL11	OMIM:619110
HP:0000765	Abnormal thorax morphology	8022	LHX3	ORPHA:231720
HP:0000765	Abnormal thorax morphology	10290	SPEG	ORPHA:169186
HP:0000765	Abnormal thorax morphology	7273	TTN	ORPHA:169186
HP:0000765	Abnormal thorax morphology	7273	TTN	OMIM:603689
HP:0000765	Abnormal thorax morphology	7415	VCP	OMIM:167320
HP:0000765	Abnormal thorax morphology	7415	VCP	ORPHA:435387
HP:0000765	Abnormal thorax morphology	7415	VCP	ORPHA:329478
HP:0000765	Abnormal thorax morphology	825	CAPN3	OMIM:253600
HP:0000765	Abnormal thorax morphology	825	CAPN3	ORPHA:267
HP:0000765	Abnormal thorax morphology	825	CAPN3	OMIM:618129
HP:0000765	Abnormal thorax morphology	8291	DYSF	ORPHA:268
HP:0000765	Abnormal thorax morphology	7084	TK2	ORPHA:254886
HP:0000765	Abnormal thorax morphology	7084	TK2	OMIM:617069
HP:0000765	Abnormal thorax morphology	5428	POLG	ORPHA:254886
HP:0000765	Abnormal thorax morphology	5428	POLG	OMIM:607459
HP:0000765	Abnormal thorax morphology	729920	CRPPA	OMIM:616052
HP:0000765	Abnormal thorax morphology	729920	CRPPA	ORPHA:352479
HP:0000765	Abnormal thorax morphology	6443	SGCB	OMIM:604286
HP:0000765	Abnormal thorax morphology	2992	GYG1	OMIM:613507
HP:0000765	Abnormal thorax morphology	25778	DSTYK	OMIM:270750
HP:0000765	Abnormal thorax morphology	29925	GMPPB	ORPHA:353327
HP:0000765	Abnormal thorax morphology	2673	GFPT1	ORPHA:353327
HP:0000765	Abnormal thorax morphology	1798	DPAGT1	ORPHA:353327
HP:0000765	Abnormal thorax morphology	85365	ALG2	ORPHA:353327
HP:0000765	Abnormal thorax morphology	85365	ALG2	OMIM:616228
HP:0000765	Abnormal thorax morphology	199857	ALG14	ORPHA:353327
HP:0000765	Abnormal thorax morphology	10059	DNM1L	ORPHA:98673
HP:0000765	Abnormal thorax morphology	4976	OPA1	ORPHA:98673
HP:0000765	Abnormal thorax morphology	6444	SGCD	OMIM:601287
HP:0000765	Abnormal thorax morphology	6444	SGCD	ORPHA:219
HP:0000765	Abnormal thorax morphology	2483	FRG1	OMIM:158900
HP:0000765	Abnormal thorax morphology	23347	SMCHD1	OMIM:158901
HP:0000765	Abnormal thorax morphology	8878	SQSTM1	OMIM:617158
HP:0000765	Abnormal thorax morphology	64856	VWA1	OMIM:619216
HP:0000765	Abnormal thorax morphology	311	ANXA11	OMIM:619733
HP:0000765	Abnormal thorax morphology	4604	MYBPC1	OMIM:618524
HP:0000765	Abnormal thorax morphology	3759	KCNJ2	OMIM:170390
HP:0000765	Abnormal thorax morphology	4620	MYH2	OMIM:605637
HP:0000765	Abnormal thorax morphology	80324	PUS1	OMIM:600462
HP:0000765	Abnormal thorax morphology	83636	C19orf12	OMIM:614298
HP:0000765	Abnormal thorax morphology	4747	NEFL	ORPHA:101085
HP:0000765	Abnormal thorax morphology	6445	SGCG	ORPHA:353
HP:0000765	Abnormal thorax morphology	55791	LRIF1	OMIM:619477
HP:0000765	Abnormal thorax morphology	163175	LGI4	OMIM:617468
HP:0000765	Abnormal thorax morphology	8292	COLQ	ORPHA:98915
HP:0000765	Abnormal thorax morphology	3913	LAMB2	ORPHA:98915
HP:0000765	Abnormal thorax morphology	1291	COL6A1	ORPHA:610
HP:0000765	Abnormal thorax morphology	1292	COL6A2	ORPHA:610
HP:0000765	Abnormal thorax morphology	1293	COL6A3	ORPHA:610
HP:0000765	Abnormal thorax morphology	11117	EMILIN1	OMIM:620080
HP:0000765	Abnormal thorax morphology	56983	POGLUT1	OMIM:617232
HP:0000765	Abnormal thorax morphology	390594	KBTBD13	ORPHA:171439
HP:0000765	Abnormal thorax morphology	29954	POMT2	ORPHA:206559
HP:0000765	Abnormal thorax morphology	23676	SMPX	OMIM:301075
HP:0000765	Abnormal thorax morphology	56652	TWNK	OMIM:607459
HP:0000765	Abnormal thorax morphology	23534	TNPO3	OMIM:608423
HP:0000765	Abnormal thorax morphology	203859	ANO5	ORPHA:206549
HP:0000765	Abnormal thorax morphology	1290	COL5A2	ORPHA:287
HP:0000765	Abnormal thorax morphology	375	ARF1	ORPHA:98892
HP:0000765	Abnormal thorax morphology	4131	MAP1B	ORPHA:98892
HP:0000765	Abnormal thorax morphology	23327	NEDD4L	ORPHA:98892
HP:0000765	Abnormal thorax morphology	160418	TMTC3	ORPHA:98892
HP:0000765	Abnormal thorax morphology	10564	ARFGEF2	ORPHA:98892
HP:0000765	Abnormal thorax morphology	55768	NGLY1	ORPHA:404454
HP:0000765	Abnormal thorax morphology	7443	VRK1	OMIM:607596
HP:0000765	Abnormal thorax morphology	3908	LAMA2	ORPHA:258
HP:0000765	Abnormal thorax morphology	4000	LMNA	ORPHA:1662
HP:0000765	Abnormal thorax morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000765	Abnormal thorax morphology	10269	ZMPSTE24	OMIM:275210
HP:0000765	Abnormal thorax morphology	51360	MBTPS2	OMIM:308205
HP:0000765	Abnormal thorax morphology	4921	DDR2	OMIM:271665
HP:0000765	Abnormal thorax morphology	2261	FGFR3	OMIM:187600
HP:0000765	Abnormal thorax morphology	2261	FGFR3	OMIM:100800
HP:0000765	Abnormal thorax morphology	2261	FGFR3	ORPHA:15
HP:0000765	Abnormal thorax morphology	79659	DYNC2H1	OMIM:613091
HP:0000765	Abnormal thorax morphology	3572	IL6ST	OMIM:619751
HP:0000765	Abnormal thorax morphology	6628	SNRPB	OMIM:117650
HP:0000765	Abnormal thorax morphology	9851	KIAA0753	OMIM:619479
HP:0000765	Abnormal thorax morphology	4593	MUSK	OMIM:208150
HP:0000765	Abnormal thorax morphology	28981	IFT81	OMIM:617895
HP:0000765	Abnormal thorax morphology	26160	IFT172	OMIM:615630
HP:0000765	Abnormal thorax morphology	755	CFAP410	OMIM:602271
HP:0000765	Abnormal thorax morphology	65992	DDRGK1	ORPHA:93352
HP:0000765	Abnormal thorax morphology	2629	GBA1	OMIM:608013
HP:0000765	Abnormal thorax morphology	4148	MATN3	OMIM:608728
HP:0000765	Abnormal thorax morphology	4148	MATN3	ORPHA:156728
HP:0000765	Abnormal thorax morphology	2317	FLNB	ORPHA:56305
HP:0000765	Abnormal thorax morphology	2317	FLNB	ORPHA:1190
HP:0000765	Abnormal thorax morphology	2317	FLNB	OMIM:108720
HP:0000765	Abnormal thorax morphology	1836	SLC26A2	ORPHA:56304
HP:0000765	Abnormal thorax morphology	1836	SLC26A2	OMIM:256050
HP:0000765	Abnormal thorax morphology	79848	CSPP1	ORPHA:397715
HP:0000765	Abnormal thorax morphology	9786	KIAA0586	ORPHA:397715
HP:0000765	Abnormal thorax morphology	112752	IFT43	OMIM:617866
HP:0000765	Abnormal thorax morphology	202018	TAPT1	OMIM:616897
HP:0000765	Abnormal thorax morphology	56975	FAM20C	OMIM:259775
HP:0000765	Abnormal thorax morphology	3930	LBR	OMIM:215140
HP:0000765	Abnormal thorax morphology	3930	LBR	OMIM:618019
HP:0000765	Abnormal thorax morphology	3339	HSPG2	OMIM:224410
HP:0000765	Abnormal thorax morphology	10020	GNE	OMIM:269921
HP:0000765	Abnormal thorax morphology	84068	SLC10A7	OMIM:618363
HP:0000765	Abnormal thorax morphology	5286	PIK3C2A	OMIM:618440
HP:0000765	Abnormal thorax morphology	1277	COL1A1	OMIM:166210
HP:0000765	Abnormal thorax morphology	1278	COL1A2	OMIM:166210
HP:0000765	Abnormal thorax morphology	3295	HSD17B4	OMIM:261515
HP:0000765	Abnormal thorax morphology	9742	IFT140	OMIM:266920
HP:0000765	Abnormal thorax morphology	5277	PIGA	OMIM:300868
HP:0000765	Abnormal thorax morphology	2475	MTOR	ORPHA:457485
HP:0000765	Abnormal thorax morphology	2475	MTOR	OMIM:616638
HP:0000765	Abnormal thorax morphology	871	SERPINH1	OMIM:613848
HP:0000765	Abnormal thorax morphology	168667	BMPER	OMIM:608022
HP:0000765	Abnormal thorax morphology	860	RUNX2	OMIM:119600
HP:0000765	Abnormal thorax morphology	3835	KIF22	ORPHA:93360
HP:0000765	Abnormal thorax morphology	116931	MED12L	OMIM:618872
HP:0000765	Abnormal thorax morphology	23219	FBXO28	OMIM:619777
HP:0000765	Abnormal thorax morphology	1674	DES	ORPHA:98909
HP:0000765	Abnormal thorax morphology	55699	IARS2	ORPHA:436174
HP:0000765	Abnormal thorax morphology	57211	ADGRG6	OMIM:616503
HP:0000765	Abnormal thorax morphology	6329	SCN4A	ORPHA:98913
HP:0000765	Abnormal thorax morphology	1140	CHRNB1	ORPHA:98913
HP:0000765	Abnormal thorax morphology	1145	CHRNE	ORPHA:98913
HP:0000765	Abnormal thorax morphology	5913	RAPSN	ORPHA:98913
HP:0000765	Abnormal thorax morphology	221264	AK9	ORPHA:98913
HP:0000765	Abnormal thorax morphology	285489	DOK7	ORPHA:98913
HP:0000765	Abnormal thorax morphology	8517	IKBKG	ORPHA:464
HP:0000765	Abnormal thorax morphology	8517	IKBKG	OMIM:308300
HP:0000765	Abnormal thorax morphology	286	ANK1	ORPHA:251066
HP:0000765	Abnormal thorax morphology	51119	SBDS	OMIM:260400
HP:0000765	Abnormal thorax morphology	134218	DNAJC21	OMIM:260400
HP:0000765	Abnormal thorax morphology	6729	SRP54	OMIM:260400
HP:0000765	Abnormal thorax morphology	4322	MMP13	OMIM:602111
HP:0000765	Abnormal thorax morphology	64840	PORCN	OMIM:305600
HP:0000765	Abnormal thorax morphology	657	BMPR1A	ORPHA:79076
HP:0000765	Abnormal thorax morphology	10682	EBP	ORPHA:35173
HP:0000765	Abnormal thorax morphology	55697	VAC14	ORPHA:3472
HP:0000765	Abnormal thorax morphology	23594	ORC6	OMIM:613803
HP:0000765	Abnormal thorax morphology	4998	ORC1	OMIM:224690
HP:0000765	Abnormal thorax morphology	4010	LMX1B	OMIM:161200
HP:0000765	Abnormal thorax morphology	26175	LYSET	OMIM:619345
HP:0000765	Abnormal thorax morphology	1300	COL10A1	ORPHA:174
HP:0000765	Abnormal thorax morphology	4256	MGP	OMIM:245150
HP:0000765	Abnormal thorax morphology	10861	SLC26A1	OMIM:620372
HP:0000765	Abnormal thorax morphology	2783	GNB2	OMIM:619503
HP:0000765	Abnormal thorax morphology	57167	SALL4	ORPHA:2307
HP:0000765	Abnormal thorax morphology	55780	ERMARD	ORPHA:75857
HP:0000765	Abnormal thorax morphology	80144	FRAS1	OMIM:219000
HP:0000765	Abnormal thorax morphology	6513	SLC2A1	ORPHA:168577
HP:0000765	Abnormal thorax morphology	341640	FREM2	OMIM:617666
HP:0000765	Abnormal thorax morphology	55777	MBD5	OMIM:156200
HP:0000765	Abnormal thorax morphology	55191	NADSYN1	OMIM:618845
HP:0000765	Abnormal thorax morphology	2735	GLI1	ORPHA:289
HP:0000765	Abnormal thorax morphology	55503	TRPV6	OMIM:618188
HP:0000765	Abnormal thorax morphology	53834	FGFRL1	OMIM:194190
HP:0000765	Abnormal thorax morphology	1311	COMP	OMIM:177170
HP:0000765	Abnormal thorax morphology	2626	GATA4	ORPHA:251071
HP:0000765	Abnormal thorax morphology	27238	GPKOW	ORPHA:2570
HP:0000765	Abnormal thorax morphology	5594	MAPK1	OMIM:619087
HP:0000765	Abnormal thorax morphology	6309	SC5D	ORPHA:46059
HP:0000765	Abnormal thorax morphology	5566	PRKACA	OMIM:619142
HP:0000765	Abnormal thorax morphology	5567	PRKACB	OMIM:619143
HP:0000765	Abnormal thorax morphology	4041	LRP5	ORPHA:2790
HP:0000765	Abnormal thorax morphology	4041	LRP5	OMIM:144750
HP:0000765	Abnormal thorax morphology	79705	LRRK1	OMIM:615198
HP:0000765	Abnormal thorax morphology	1146	CHRNG	OMIM:265000
HP:0000765	Abnormal thorax morphology	8260	NAA10	OMIM:309800
HP:0000765	Abnormal thorax morphology	54880	BCOR	OMIM:309800
HP:0000765	Abnormal thorax morphology	63895	PIEZO2	OMIM:114300
HP:0000765	Abnormal thorax morphology	83932	SPRTN	OMIM:616200
HP:0000765	Abnormal thorax morphology	92255	LMBRD2	OMIM:619694
HP:0000765	Abnormal thorax morphology	10265	IRX5	OMIM:611174
HP:0000765	Abnormal thorax morphology	51633	OTUD6B	OMIM:617452
HP:0000765	Abnormal thorax morphology	6804	STX1A	ORPHA:904
HP:0000765	Abnormal thorax morphology	7461	CLIP2	ORPHA:904
HP:0000765	Abnormal thorax morphology	84277	DNAJC30	ORPHA:904
HP:0000765	Abnormal thorax morphology	8468	FKBP6	ORPHA:904
HP:0000765	Abnormal thorax morphology	5982	RFC2	ORPHA:904
HP:0000765	Abnormal thorax morphology	2969	GTF2I	ORPHA:904
HP:0000765	Abnormal thorax morphology	3984	LIMK1	ORPHA:904
HP:0000765	Abnormal thorax morphology	9569	GTF2IRD1	ORPHA:904
HP:0000765	Abnormal thorax morphology	155382	VPS37D	ORPHA:904
HP:0000765	Abnormal thorax morphology	155368	METTL27	ORPHA:904
HP:0000765	Abnormal thorax morphology	114049	BUD23	ORPHA:904
HP:0000765	Abnormal thorax morphology	7458	EIF4H	ORPHA:904
HP:0000765	Abnormal thorax morphology	84163	GTF2IRD2	ORPHA:904
HP:0000765	Abnormal thorax morphology	9275	BCL7B	ORPHA:904
HP:0000765	Abnormal thorax morphology	26608	TBL2	ORPHA:904
HP:0000765	Abnormal thorax morphology	653361	NCF1	ORPHA:904
HP:0000765	Abnormal thorax morphology	135886	TMEM270	ORPHA:904
HP:0000765	Abnormal thorax morphology	51085	MLXIPL	ORPHA:904
HP:0000765	Abnormal thorax morphology	51085	MLXIPL	OMIM:194050
HP:0000765	Abnormal thorax morphology	9031	BAZ1B	ORPHA:904
HP:0000765	Abnormal thorax morphology	2006	ELN	ORPHA:904
HP:0000765	Abnormal thorax morphology	2006	ELN	OMIM:194050
HP:0000765	Abnormal thorax morphology	2138	EYA1	ORPHA:2792
HP:0000765	Abnormal thorax morphology	2138	EYA1	OMIM:166780
HP:0000765	Abnormal thorax morphology	5075	PAX1	ORPHA:2792
HP:0000765	Abnormal thorax morphology	5075	PAX1	OMIM:615560
HP:0000765	Abnormal thorax morphology	55636	CHD7	OMIM:214800
HP:0000765	Abnormal thorax morphology	8450	CUL4B	ORPHA:85293
HP:0000765	Abnormal thorax morphology	84919	PPP1R15B	OMIM:616817
HP:0000765	Abnormal thorax morphology	84919	PPP1R15B	ORPHA:391408
HP:0000765	Abnormal thorax morphology	93587	TRMT10A	ORPHA:391408
HP:0000765	Abnormal thorax morphology	865	CBFB	OMIM:620099
HP:0000765	Abnormal thorax morphology	2556	GABRA3	OMIM:301091
HP:0000765	Abnormal thorax morphology	63916	ELMO2	OMIM:606893
HP:0100659	Abnormal cerebral vascular morphology	4524	MTHFR	ORPHA:395
HP:0100659	Abnormal cerebral vascular morphology	4524	MTHFR	OMIM:236250
HP:0100659	Abnormal cerebral vascular morphology	7428	VHL	OMIM:263400
HP:0100659	Abnormal cerebral vascular morphology	7428	VHL	ORPHA:892
HP:0100659	Abnormal cerebral vascular morphology	6331	SCN5A	OMIM:614022
HP:0100659	Abnormal cerebral vascular morphology	6331	SCN5A	OMIM:601154
HP:0100659	Abnormal cerebral vascular morphology	55503	TRPV6	OMIM:618188
HP:0100659	Abnormal cerebral vascular morphology	7148	TNXB	ORPHA:230839
HP:0100659	Abnormal cerebral vascular morphology	1161	ERCC8	ORPHA:90324
HP:0100659	Abnormal cerebral vascular morphology	2074	ERCC6	ORPHA:90324
HP:0100659	Abnormal cerebral vascular morphology	5009	OTC	OMIM:311250
HP:0100659	Abnormal cerebral vascular morphology	2997	GYS1	OMIM:611556
HP:0100659	Abnormal cerebral vascular morphology	7174	TPP2	ORPHA:444463
HP:0100659	Abnormal cerebral vascular morphology	2908	NR3C1	ORPHA:786
HP:0100659	Abnormal cerebral vascular morphology	2908	NR3C1	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	351	APP	ORPHA:324713
HP:0100659	Abnormal cerebral vascular morphology	351	APP	ORPHA:324703
HP:0100659	Abnormal cerebral vascular morphology	351	APP	ORPHA:324708
HP:0100659	Abnormal cerebral vascular morphology	351	APP	ORPHA:100006
HP:0100659	Abnormal cerebral vascular morphology	351	APP	OMIM:605714
HP:0100659	Abnormal cerebral vascular morphology	9342	SNAP29	ORPHA:66631
HP:0100659	Abnormal cerebral vascular morphology	10560	SLC19A2	ORPHA:49827
HP:0100659	Abnormal cerebral vascular morphology	10560	SLC19A2	OMIM:249270
HP:0100659	Abnormal cerebral vascular morphology	11093	ADAMTS13	OMIM:274150
HP:0100659	Abnormal cerebral vascular morphology	5573	PRKAR1A	ORPHA:1359
HP:0100659	Abnormal cerebral vascular morphology	50940	PDE11A	ORPHA:1359
HP:0100659	Abnormal cerebral vascular morphology	51816	ADA2	OMIM:182410
HP:0100659	Abnormal cerebral vascular morphology	51816	ADA2	OMIM:615688
HP:0100659	Abnormal cerebral vascular morphology	84196	USP48	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	7157	TP53	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	9101	USP8	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	64072	CDH23	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	673	BRAF	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	546	ATRX	ORPHA:96253
HP:0100659	Abnormal cerebral vascular morphology	3043	HBB	OMIM:603903
HP:0100659	Abnormal cerebral vascular morphology	9149	DYRK1B	OMIM:615812
HP:0100659	Abnormal cerebral vascular morphology	4352	MPL	ORPHA:729
HP:0100659	Abnormal cerebral vascular morphology	3717	JAK2	ORPHA:729
HP:0100659	Abnormal cerebral vascular morphology	54790	TET2	ORPHA:729
HP:0100659	Abnormal cerebral vascular morphology	4629	MYH11	OMIM:132900
HP:0100659	Abnormal cerebral vascular morphology	4629	MYH11	ORPHA:229
HP:0100659	Abnormal cerebral vascular morphology	4629	MYH11	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	5346	PLIN1	OMIM:613877
HP:0100659	Abnormal cerebral vascular morphology	128989	TANGO2	ORPHA:480864
HP:0100659	Abnormal cerebral vascular morphology	5277	PIGA	ORPHA:447
HP:0100659	Abnormal cerebral vascular morphology	3291	HSD11B2	ORPHA:320
HP:0100659	Abnormal cerebral vascular morphology	2318	FLNC	OMIM:617047
HP:0100659	Abnormal cerebral vascular morphology	2318	FLNC	ORPHA:75249
HP:0100659	Abnormal cerebral vascular morphology	4204	MECP2	ORPHA:3077
HP:0100659	Abnormal cerebral vascular morphology	4763	NF1	ORPHA:97685
HP:0100659	Abnormal cerebral vascular morphology	4089	SMAD4	OMIM:175050
HP:0100659	Abnormal cerebral vascular morphology	4089	SMAD4	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	10370	CITED2	ORPHA:99105
HP:0100659	Abnormal cerebral vascular morphology	10370	CITED2	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	4854	NOTCH3	OMIM:125310
HP:0100659	Abnormal cerebral vascular morphology	4854	NOTCH3	ORPHA:136
HP:0100659	Abnormal cerebral vascular morphology	1471	CST3	OMIM:105150
HP:0100659	Abnormal cerebral vascular morphology	1471	CST3	ORPHA:100008
HP:0100659	Abnormal cerebral vascular morphology	7092	TLL1	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	57057	TBX20	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	4624	MYH6	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	1482	NKX2-5	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	70	ACTC1	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	2626	GATA4	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	2627	GATA6	ORPHA:99103
HP:0100659	Abnormal cerebral vascular morphology	5654	HTRA1	ORPHA:199354
HP:0100659	Abnormal cerebral vascular morphology	5654	HTRA1	OMIM:616779
HP:0100659	Abnormal cerebral vascular morphology	5654	HTRA1	OMIM:600142
HP:0100659	Abnormal cerebral vascular morphology	4607	MYBPC3	OMIM:115197
HP:0100659	Abnormal cerebral vascular morphology	11277	TREX1	OMIM:192315
HP:0100659	Abnormal cerebral vascular morphology	5167	ENPP1	ORPHA:51608
HP:0100659	Abnormal cerebral vascular morphology	368	ABCC6	ORPHA:51608
HP:0100659	Abnormal cerebral vascular morphology	368	ABCC6	OMIM:264800
HP:0100659	Abnormal cerebral vascular morphology	6804	STX1A	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	7461	CLIP2	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	84277	DNAJC30	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	8468	FKBP6	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	5982	RFC2	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	2969	GTF2I	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	3984	LIMK1	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	9569	GTF2IRD1	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	155382	VPS37D	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	155368	METTL27	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	114049	BUD23	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	7458	EIF4H	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	84163	GTF2IRD2	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	9275	BCL7B	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	26608	TBL2	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	653361	NCF1	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	135886	TMEM270	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	51085	MLXIPL	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	51085	MLXIPL	OMIM:194050
HP:0100659	Abnormal cerebral vascular morphology	9031	BAZ1B	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	2006	ELN	ORPHA:904
HP:0100659	Abnormal cerebral vascular morphology	2006	ELN	OMIM:194050
HP:0100659	Abnormal cerebral vascular morphology	2006	ELN	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	84665	MYPN	ORPHA:75249
HP:0100659	Abnormal cerebral vascular morphology	7139	TNNT2	ORPHA:75249
HP:0100659	Abnormal cerebral vascular morphology	7137	TNNI3	ORPHA:75249
HP:0100659	Abnormal cerebral vascular morphology	10112	KIF20A	ORPHA:75249
HP:0100659	Abnormal cerebral vascular morphology	83605	CCM2	OMIM:603284
HP:0100659	Abnormal cerebral vascular morphology	189	AGXT	ORPHA:93598
HP:0100659	Abnormal cerebral vascular morphology	4000	LMNA	ORPHA:740
HP:0100659	Abnormal cerebral vascular morphology	10269	ZMPSTE24	ORPHA:740
HP:0100659	Abnormal cerebral vascular morphology	2316	FLNA	OMIM:300049
HP:0100659	Abnormal cerebral vascular morphology	64131	XYLT1	OMIM:264800
HP:0100659	Abnormal cerebral vascular morphology	64132	XYLT2	OMIM:264800
HP:0100659	Abnormal cerebral vascular morphology	80206	FHOD3	OMIM:619402
HP:0100659	Abnormal cerebral vascular morphology	2982	GUCY1A1	ORPHA:401945
HP:0100659	Abnormal cerebral vascular morphology	50485	SMARCAL1	ORPHA:1830
HP:0100659	Abnormal cerebral vascular morphology	50485	SMARCAL1	OMIM:242900
HP:0100659	Abnormal cerebral vascular morphology	7276	TTR	ORPHA:85451
HP:0100659	Abnormal cerebral vascular morphology	182	JAG1	OMIM:118450
HP:0100659	Abnormal cerebral vascular morphology	28976	ACAD9	OMIM:611126
HP:0100659	Abnormal cerebral vascular morphology	595	CCND1	ORPHA:892
HP:0100659	Abnormal cerebral vascular morphology	126792	B3GALT6	ORPHA:536467
HP:0100659	Abnormal cerebral vascular morphology	2147	F2	OMIM:601367
HP:0100659	Abnormal cerebral vascular morphology	4846	NOS3	OMIM:601367
HP:0100659	Abnormal cerebral vascular morphology	5583	PRKCH	OMIM:601367
HP:0100659	Abnormal cerebral vascular morphology	2153	F5	OMIM:601367
HP:0100659	Abnormal cerebral vascular morphology	241	ALOX5AP	OMIM:601367
HP:0100659	Abnormal cerebral vascular morphology	727676	SNORD118	ORPHA:542310
HP:0100659	Abnormal cerebral vascular morphology	5116	PCNT	ORPHA:2637
HP:0100659	Abnormal cerebral vascular morphology	162417	NAGS	ORPHA:927
HP:0100659	Abnormal cerebral vascular morphology	25974	MMACHC	ORPHA:79282
HP:0100659	Abnormal cerebral vascular morphology	445	ASS1	OMIM:215700
HP:0100659	Abnormal cerebral vascular morphology	875	CBS	OMIM:236200
HP:0100659	Abnormal cerebral vascular morphology	5286	PIK3C2A	ORPHA:557003
HP:0100659	Abnormal cerebral vascular morphology	2776	GNAQ	ORPHA:3205
HP:0100659	Abnormal cerebral vascular morphology	4860	PNP	ORPHA:760
HP:0100659	Abnormal cerebral vascular morphology	4615	MYD88	ORPHA:33226
HP:0100659	Abnormal cerebral vascular morphology	4878	NPPA	OMIM:615745
HP:0100659	Abnormal cerebral vascular morphology	1373	CPS1	OMIM:237300
HP:0100659	Abnormal cerebral vascular morphology	7535	ZAP70	ORPHA:911
HP:0100659	Abnormal cerebral vascular morphology	7046	TGFBR1	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	7048	TGFBR2	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4015	LOX	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4087	SMAD2	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	7043	TGFB3	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4088	SMAD3	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	7042	TGFB2	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	2200	FBN1	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	59	ACTA2	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	5592	PRKG1	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	2301	FOXE3	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4144	MAT2A	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	23493	HEY2	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	8076	MFAP5	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4638	MYLK	ORPHA:91387
HP:0100659	Abnormal cerebral vascular morphology	4594	MMUT	ORPHA:79312
HP:0100659	Abnormal cerebral vascular morphology	25978	CHMP2B	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	5663	PSEN1	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	2896	GRN	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	54664	TMEM106B	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	4137	MAPT	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	54209	TREM2	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	7415	VCP	ORPHA:100070
HP:0100659	Abnormal cerebral vascular morphology	10019	SH2B3	OMIM:133100
HP:0100659	Abnormal cerebral vascular morphology	2057	EPOR	OMIM:133100
HP:0100659	Abnormal cerebral vascular morphology	2132	EXT2	OMIM:616682
HP:0100659	Abnormal cerebral vascular morphology	2677	GGCX	OMIM:277450
HP:0100659	Abnormal cerebral vascular morphology	55654	TMEM127	OMIM:171300
HP:0100659	Abnormal cerebral vascular morphology	55654	TMEM127	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	5979	RET	OMIM:171300
HP:0100659	Abnormal cerebral vascular morphology	5979	RET	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	5979	RET	ORPHA:276621
HP:0100659	Abnormal cerebral vascular morphology	6390	SDHB	OMIM:171300
HP:0100659	Abnormal cerebral vascular morphology	6390	SDHB	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	6390	SDHB	ORPHA:276621
HP:0100659	Abnormal cerebral vascular morphology	6392	SDHD	OMIM:171300
HP:0100659	Abnormal cerebral vascular morphology	6392	SDHD	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	6392	SDHD	ORPHA:276621
HP:0100659	Abnormal cerebral vascular morphology	4149	MAX	OMIM:171300
HP:0100659	Abnormal cerebral vascular morphology	4149	MAX	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	1743	DLST	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	4191	MDH2	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	6389	SDHA	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	23095	KIF1B	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	2271	FH	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	8402	SLC25A11	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	54949	SDHAF2	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	6391	SDHC	ORPHA:29072
HP:0100659	Abnormal cerebral vascular morphology	8314	BAP1	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	4771	NF2	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	6598	SMARCB1	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	5155	PDGFB	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	84231	TRAF7	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	6608	SMO	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	207	AKT1	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	7015	TERT	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	51684	SUFU	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	6605	SMARCE1	ORPHA:2495
HP:0100659	Abnormal cerebral vascular morphology	8517	IKBKG	OMIM:301081
HP:0100659	Abnormal cerebral vascular morphology	2335	FN1	ORPHA:84090
HP:0100659	Abnormal cerebral vascular morphology	2243	FGA	ORPHA:98880
HP:0100659	Abnormal cerebral vascular morphology	2244	FGB	ORPHA:98880
HP:0100659	Abnormal cerebral vascular morphology	2266	FGG	ORPHA:98880
HP:0100659	Abnormal cerebral vascular morphology	3075	CFH	ORPHA:244242
HP:0100659	Abnormal cerebral vascular morphology	3426	CFI	ORPHA:244242
HP:0100659	Abnormal cerebral vascular morphology	4179	CD46	ORPHA:244242
HP:0100659	Abnormal cerebral vascular morphology	101101692	HELLPAR	ORPHA:244242
HP:0100659	Abnormal cerebral vascular morphology	5627	PROS1	OMIM:614514
HP:0100659	Abnormal cerebral vascular morphology	2165	F13B	ORPHA:331
HP:0100659	Abnormal cerebral vascular morphology	2162	F13A1	ORPHA:331
HP:0100659	Abnormal cerebral vascular morphology	442721	LMOD2	OMIM:619897
HP:0100659	Abnormal cerebral vascular morphology	11274	USP18	OMIM:617397
HP:0100659	Abnormal cerebral vascular morphology	6773	STAT2	OMIM:618886
HP:0100659	Abnormal cerebral vascular morphology	1788	DNMT3A	ORPHA:276621
HP:0100659	Abnormal cerebral vascular morphology	2034	EPAS1	ORPHA:276621
HP:0100659	Abnormal cerebral vascular morphology	9103	FCGR2C	ORPHA:3002
HP:0100659	Abnormal cerebral vascular morphology	2658	GDF2	ORPHA:774
HP:0100659	Abnormal cerebral vascular morphology	2548	GAA	OMIM:232300
HP:0100659	Abnormal cerebral vascular morphology	5921	RASA1	ORPHA:90307
HP:0100659	Abnormal cerebral vascular morphology	2159	F10	ORPHA:328
HP:0100659	Abnormal cerebral vascular morphology	81704	DOCK8	OMIM:243700
HP:0100659	Abnormal cerebral vascular morphology	6786	STIM1	OMIM:185070
HP:0100659	Abnormal cerebral vascular morphology	55901	THSD1	OMIM:618734
HP:0100659	Abnormal cerebral vascular morphology	55901	THSD1	ORPHA:231160
HP:0100659	Abnormal cerebral vascular morphology	2811	GP1BA	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	2812	GP1BB	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	3674	ITGA2B	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	3673	ITGA2	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	135228	CD109	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	3690	ITGB3	ORPHA:853
HP:0100659	Abnormal cerebral vascular morphology	7049	TGFBR3	ORPHA:231160
HP:0100659	Abnormal cerebral vascular morphology	1281	COL3A1	ORPHA:231160
HP:0100659	Abnormal cerebral vascular morphology	83854	ANGPTL6	ORPHA:231160
HP:0100659	Abnormal cerebral vascular morphology	94	ACVRL1	OMIM:600376
HP:0100659	Abnormal cerebral vascular morphology	2022	ENG	OMIM:187300
HP:0100659	Abnormal cerebral vascular morphology	81031	SLC2A10	OMIM:208050
HP:0100659	Abnormal cerebral vascular morphology	6651	SON	ORPHA:500150
HP:0100659	Abnormal cerebral vascular morphology	2783	GNB2	OMIM:619503
HP:0100659	Abnormal cerebral vascular morphology	79184	BRCC3	ORPHA:280679
HP:0100659	Abnormal cerebral vascular morphology	1282	COL4A1	OMIM:175780
HP:0100659	Abnormal cerebral vascular morphology	1798	DPAGT1	ORPHA:86309
HP:0100659	Abnormal cerebral vascular morphology	54809	SAMD9	OMIM:617053
HP:0100659	Abnormal cerebral vascular morphology	2155	F7	OMIM:227500
HP:0100659	Abnormal cerebral vascular morphology	2155	F7	ORPHA:327
HP:0100659	Abnormal cerebral vascular morphology	2629	GBA1	ORPHA:85212
HP:0100659	Abnormal cerebral vascular morphology	65062	TMEM237	OMIM:614424
HP:0100659	Abnormal cerebral vascular morphology	538	ATP7A	OMIM:309400
HP:0100659	Abnormal cerebral vascular morphology	538	ATP7A	ORPHA:565
HP:0100659	Abnormal cerebral vascular morphology	7454	WAS	ORPHA:906
HP:0100659	Abnormal cerebral vascular morphology	7456	WIPF1	ORPHA:906
HP:0100659	Abnormal cerebral vascular morphology	5728	PTEN	ORPHA:109
HP:0100659	Abnormal cerebral vascular morphology	2624	GATA2	ORPHA:3226
HP:0100659	Abnormal cerebral vascular morphology	5345	SERPINF2	ORPHA:79
HP:0100659	Abnormal cerebral vascular morphology	249	ALPL	OMIM:241500
HP:0100659	Abnormal cerebral vascular morphology	3998	LMAN1	ORPHA:35909
HP:0100659	Abnormal cerebral vascular morphology	90411	MCFD2	ORPHA:35909
HP:0100659	Abnormal cerebral vascular morphology	1584	CYP11B1	ORPHA:90795
HP:0100659	Abnormal cerebral vascular morphology	1584	CYP11B1	ORPHA:403
HP:0100659	Abnormal cerebral vascular morphology	5373	PMM2	ORPHA:79318
HP:0100659	Abnormal cerebral vascular morphology	1284	COL4A2	OMIM:614483
HP:0100659	Abnormal cerebral vascular morphology	340665	CYP26C1	ORPHA:398189
HP:0100659	Abnormal cerebral vascular morphology	1181	CLCN2	ORPHA:404
HP:0100659	Abnormal cerebral vascular morphology	1585	CYP11B2	ORPHA:403
HP:0100659	Abnormal cerebral vascular morphology	776	CACNA1D	ORPHA:369929
HP:0100659	Abnormal cerebral vascular morphology	25942	SIN3A	OMIM:613406
HP:0100659	Abnormal cerebral vascular morphology	3762	KCNJ5	ORPHA:251274
HP:0100659	Abnormal cerebral vascular morphology	7066	THPO	ORPHA:71493
HP:0100659	Abnormal cerebral vascular morphology	2717	GLA	OMIM:301500
HP:0100659	Abnormal cerebral vascular morphology	2717	GLA	ORPHA:324
HP:0100659	Abnormal cerebral vascular morphology	71	ACTG1	ORPHA:2995
HP:0100659	Abnormal cerebral vascular morphology	60	ACTB	ORPHA:2995
HP:0100659	Abnormal cerebral vascular morphology	5621	PRNP	ORPHA:282166
HP:0100659	Abnormal cerebral vascular morphology	4702	NDUFA8	OMIM:619272
HP:0100659	Abnormal cerebral vascular morphology	4512	MT-CO1	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4512	MT-CO1	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4513	MT-CO2	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4513	MT-CO2	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4514	MT-CO3	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4514	MT-CO3	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4519	MT-CYB	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4519	MT-CYB	ORPHA:137675
HP:0100659	Abnormal cerebral vascular morphology	4511	MT-TC	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4574	MT-TS1	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4574	MT-TS1	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4575	MT-TS2	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4575	MT-TS2	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4558	MT-TF	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4558	MT-TF	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4541	MT-ND6	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4541	MT-ND6	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4567	MT-TL1	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4567	MT-TL1	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4540	MT-ND5	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4540	MT-ND5	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4566	MT-TK	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4535	MT-ND1	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4535	MT-ND1	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4572	MT-TQ	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4572	MT-TQ	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4577	MT-TV	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4578	MT-TW	OMIM:540000
HP:0100659	Abnormal cerebral vascular morphology	4578	MT-TW	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	7466	WFS1	OMIM:222300
HP:0100659	Abnormal cerebral vascular morphology	4538	MT-ND4	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	4564	MT-TH	ORPHA:550
HP:0100659	Abnormal cerebral vascular morphology	3980	LIG3	OMIM:619780
HP:0100659	Abnormal cerebral vascular morphology	54344	DPM3	ORPHA:263494
HP:0100659	Abnormal cerebral vascular morphology	91869	RFT1	ORPHA:244310
HP:0100659	Abnormal cerebral vascular morphology	23600	AMACR	ORPHA:79095
HP:0100659	Abnormal cerebral vascular morphology	10128	LRPPRC	ORPHA:70472
HP:0100659	Abnormal cerebral vascular morphology	3845	KRAS	OMIM:108010
HP:0100659	Abnormal cerebral vascular morphology	3569	IL6	OMIM:108010
HP:0100659	Abnormal cerebral vascular morphology	6575	SLC20A2	OMIM:213600
HP:0100659	Abnormal cerebral vascular morphology	5159	PDGFRB	OMIM:213600
HP:0100659	Abnormal cerebral vascular morphology	5832	ALDH18A1	OMIM:616603
HP:0100659	Abnormal cerebral vascular morphology	1289	COL5A1	OMIM:619329
HP:0100659	Abnormal cerebral vascular morphology	51726	DNAJB11	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	23193	GANAB	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	23193	GANAB	OMIM:600666
HP:0100659	Abnormal cerebral vascular morphology	5311	PKD2	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	29880	ALG5	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	9742	IFT140	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	79796	ALG9	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	80114	BICC1	ORPHA:730
HP:0100659	Abnormal cerebral vascular morphology	6772	STAT1	ORPHA:391487
HP:0100659	Abnormal cerebral vascular morphology	10043	TOM1	ORPHA:391487
HP:0100659	Abnormal cerebral vascular morphology	6711	SPTBN1	OMIM:619475
HP:0100659	Abnormal cerebral vascular morphology	10056	FARSB	OMIM:613658
HP:0100659	Abnormal cerebral vascular morphology	5589	PRKCSH	OMIM:174050
HP:0100659	Abnormal cerebral vascular morphology	4796	TONSL	ORPHA:93357
HP:0100659	Abnormal cerebral vascular morphology	1277	COL1A1	ORPHA:287
HP:0100659	Abnormal cerebral vascular morphology	1290	COL5A2	ORPHA:287
HP:0100659	Abnormal cerebral vascular morphology	633	BGN	OMIM:300989
HP:0100659	Abnormal cerebral vascular morphology	8985	PLOD3	OMIM:612394
HP:0100659	Abnormal cerebral vascular morphology	10621	POLR3F	OMIM:619872
HP:0100659	Abnormal cerebral vascular morphology	1376	CPT2	OMIM:608836
HP:0100659	Abnormal cerebral vascular morphology	5310	PKD1	OMIM:173900
HP:0100659	Abnormal cerebral vascular morphology	3949	LDLR	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	255738	PCSK9	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	26119	LDLRAP1	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	338	APOB	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	64240	ABCG5	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	64241	ABCG8	ORPHA:391665
HP:0100659	Abnormal cerebral vascular morphology	54820	NDE1	ORPHA:2177
HP:0100659	Abnormal cerebral vascular morphology	3712	IVD	OMIM:243500
HP:0100659	Abnormal cerebral vascular morphology	5095	PCCA	OMIM:606054
HP:0100659	Abnormal cerebral vascular morphology	5096	PCCB	OMIM:606054
HP:0100659	Abnormal cerebral vascular morphology	10535	RNASEH2A	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	84153	RNASEH2C	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	25939	SAMHD1	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	79621	RNASEH2B	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	103	ADAR	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	100147744	RNU7-1	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	134353	LSM11	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	64135	IFIH1	ORPHA:51
HP:0100659	Abnormal cerebral vascular morphology	4488	MSX2	ORPHA:60015
HP:0100659	Abnormal cerebral vascular morphology	60529	ALX4	ORPHA:60015
HP:0100659	Abnormal cerebral vascular morphology	55252	ASXL2	OMIM:617190
HP:0100659	Abnormal cerebral vascular morphology	4953	ODC1	OMIM:619075
HP:0100659	Abnormal cerebral vascular morphology	4953	ODC1	ORPHA:544488
HP:0100659	Abnormal cerebral vascular morphology	6134	RPL10	OMIM:300998
HP:0100659	Abnormal cerebral vascular morphology	55768	NGLY1	OMIM:615273
HP:0100659	Abnormal cerebral vascular morphology	8294	H4C9	OMIM:619951
HP:0100659	Abnormal cerebral vascular morphology	3020	H3-3A	OMIM:619720
HP:0100659	Abnormal cerebral vascular morphology	1182	CLCN3	OMIM:619512
HP:0100659	Abnormal cerebral vascular morphology	1182	CLCN3	OMIM:619517
HP:0100659	Abnormal cerebral vascular morphology	6477	SIAH1	OMIM:619314
HP:0100659	Abnormal cerebral vascular morphology	54453	RIN2	OMIM:613075
HP:0100659	Abnormal cerebral vascular morphology	85365	ALG2	OMIM:607906
HP:0100659	Abnormal cerebral vascular morphology	51111	KMT5B	OMIM:617788
HP:0100659	Abnormal cerebral vascular morphology	1641	DCX	ORPHA:2148
HP:0100659	Abnormal cerebral vascular morphology	5361	PLXNA1	OMIM:619955
HP:0100659	Abnormal cerebral vascular morphology	5048	PAFAH1B1	OMIM:607432
HP:0100659	Abnormal cerebral vascular morphology	5048	PAFAH1B1	ORPHA:95232
HP:0100659	Abnormal cerebral vascular morphology	57688	ZSWIM6	OMIM:603671
HP:0100659	Abnormal cerebral vascular morphology	1906	EDN1	ORPHA:137888
HP:0100659	Abnormal cerebral vascular morphology	5332	PLCB4	ORPHA:137888
HP:0100659	Abnormal cerebral vascular morphology	2773	GNAI3	ORPHA:137888
HP:0100659	Abnormal cerebral vascular morphology	2157	F8	ORPHA:169805
HP:0100659	Abnormal cerebral vascular morphology	4774	NFIA	ORPHA:401986
HP:0100659	Abnormal cerebral vascular morphology	55788	LMBRD1	ORPHA:79284
HP:0100659	Abnormal cerebral vascular morphology	284058	KANSL1	ORPHA:363965
HP:0100659	Abnormal cerebral vascular morphology	284058	KANSL1	ORPHA:363958
HP:0100659	Abnormal cerebral vascular morphology	6678	SPARC	OMIM:616507
HP:0100659	Abnormal cerebral vascular morphology	165918	RNF168	ORPHA:420741
HP:0100659	Abnormal cerebral vascular morphology	100131801	PET100	OMIM:619055
HP:0100659	Abnormal cerebral vascular morphology	92935	MARS2	OMIM:616430
HP:0100659	Abnormal cerebral vascular morphology	79709	COLGALT1	OMIM:618360
HP:0100659	Abnormal cerebral vascular morphology	4668	NAGA	OMIM:609242
HP:0100659	Abnormal cerebral vascular morphology	490	ATP2B1	OMIM:619910
HP:0100659	Abnormal cerebral vascular morphology	5290	PIK3CA	OMIM:619538
HP:0100659	Abnormal cerebral vascular morphology	889	KRIT1	OMIM:116860
HP:0100659	Abnormal cerebral vascular morphology	11235	PDCD10	OMIM:603285
HP:0100659	Abnormal cerebral vascular morphology	1725	DHPS	OMIM:618480
HP:0100659	Abnormal cerebral vascular morphology	84667	HES7	OMIM:613686
HP:0100659	Abnormal cerebral vascular morphology	23299	BICD2	OMIM:618291
HP:0100659	Abnormal cerebral vascular morphology	2639	GCDH	ORPHA:25
HP:0100659	Abnormal cerebral vascular morphology	1785	DNM2	OMIM:615368
HP:0100659	Abnormal cerebral vascular morphology	3703	STT3A	OMIM:619714
HP:0100659	Abnormal cerebral vascular morphology	8241	RBM10	OMIM:311900
HP:0100659	Abnormal cerebral vascular morphology	5054	SERPINE1	ORPHA:465
HP:0100659	Abnormal cerebral vascular morphology	10526	IPO8	OMIM:619472
HP:0100659	Abnormal cerebral vascular morphology	9820	CUL7	ORPHA:2616
HP:0100659	Abnormal cerebral vascular morphology	23363	OBSL1	ORPHA:2616
HP:0100659	Abnormal cerebral vascular morphology	83987	CCDC8	ORPHA:2616
HP:0100659	Abnormal cerebral vascular morphology	1729	DIAPH1	ORPHA:2573
HP:0100659	Abnormal cerebral vascular morphology	57674	RNF213	ORPHA:2573
HP:0100659	Abnormal cerebral vascular morphology	7486	WRN	ORPHA:902
HP:0100659	Abnormal cerebral vascular morphology	5624	PROC	ORPHA:745
HP:0100659	Abnormal cerebral vascular morphology	56922	MCCC1	ORPHA:6
HP:0100659	Abnormal cerebral vascular morphology	64087	MCCC2	ORPHA:6
HP:0100659	Abnormal cerebral vascular morphology	811	CALR	ORPHA:3318
HP:0100659	Abnormal cerebral vascular morphology	84168	ANTXR1	ORPHA:2067
HP:0100659	Abnormal cerebral vascular morphology	2050	EPHB4	ORPHA:1053
HP:0100659	Abnormal cerebral vascular morphology	326	AIRE	ORPHA:3453
HP:0011124	Abnormal epidermal morphology	340665	CYP26C1	ORPHA:398189
HP:0011124	Abnormal epidermal morphology	4035	LRP1	ORPHA:79100
HP:0011124	Abnormal epidermal morphology	242	ALOX12B	OMIM:242100
HP:0011124	Abnormal epidermal morphology	59344	ALOXE3	OMIM:242100
HP:0011124	Abnormal epidermal morphology	126410	CYP4F22	OMIM:604777
HP:0011124	Abnormal epidermal morphology	7051	TGM1	OMIM:242300
HP:0011124	Abnormal epidermal morphology	7051	TGM1	ORPHA:100976
HP:0011124	Abnormal epidermal morphology	10804	GJB6	ORPHA:477
HP:0011124	Abnormal epidermal morphology	2706	GJB2	ORPHA:477
HP:0011124	Abnormal epidermal morphology	10519	CIB1	OMIM:618267
HP:0011124	Abnormal epidermal morphology	348938	NIPAL4	OMIM:612281
HP:0011124	Abnormal epidermal morphology	1041	CDSN	ORPHA:90368
HP:0011124	Abnormal epidermal morphology	121391	KRT74	ORPHA:90368
HP:0011124	Abnormal epidermal morphology	8710	SERPINB7	OMIM:615598
HP:0011124	Abnormal epidermal morphology	79755	ZNF750	OMIM:610227
HP:0011124	Abnormal epidermal morphology	56916	SMARCAD1	OMIM:129200
HP:0011124	Abnormal epidermal morphology	56916	SMARCAD1	OMIM:181600
HP:0011124	Abnormal epidermal morphology	79719	AAGAB	OMIM:148600
HP:0011124	Abnormal epidermal morphology	79719	AAGAB	ORPHA:79501
HP:0011124	Abnormal epidermal morphology	7373	COL14A1	ORPHA:79501
HP:0011124	Abnormal epidermal morphology	10999	SLC27A4	OMIM:608649
HP:0011124	Abnormal epidermal morphology	3848	KRT1	OMIM:113800
HP:0011124	Abnormal epidermal morphology	3848	KRT1	ORPHA:2199
HP:0011124	Abnormal epidermal morphology	57152	SLURP1	ORPHA:87503
HP:0011124	Abnormal epidermal morphology	22861	NLRP1	OMIM:617388
HP:0011124	Abnormal epidermal morphology	22861	NLRP1	OMIM:615225
HP:0011124	Abnormal epidermal morphology	5167	ENPP1	OMIM:615522
HP:0011124	Abnormal epidermal morphology	51360	MBTPS2	OMIM:300918
HP:0011124	Abnormal epidermal morphology	207	AKT1	OMIM:176920
HP:0011124	Abnormal epidermal morphology	1825	DSC3	OMIM:613102
HP:0011124	Abnormal epidermal morphology	3557	IL1RN	OMIM:612852
HP:0011124	Abnormal epidermal morphology	643418	LIPN	OMIM:613943
HP:0011124	Abnormal epidermal morphology	64065	PERP	OMIM:619208
HP:0011124	Abnormal epidermal morphology	9076	CLDN1	OMIM:607626
HP:0011124	Abnormal epidermal morphology	1956	EGFR	OMIM:616069
HP:0011124	Abnormal epidermal morphology	2707	GJB3	OMIM:133200
HP:0011124	Abnormal epidermal morphology	50814	NSDHL	OMIM:308050
HP:0011124	Abnormal epidermal morphology	79977	GRHL2	OMIM:616029
HP:0011124	Abnormal epidermal morphology	64834	ELOVL1	OMIM:618527
HP:0011124	Abnormal epidermal morphology	56983	POGLUT1	OMIM:615696
HP:0011124	Abnormal epidermal morphology	5271	SERPINB8	OMIM:617115
HP:0011124	Abnormal epidermal morphology	286887	KRT6C	OMIM:615735
HP:0011124	Abnormal epidermal morphology	3868	KRT16	ORPHA:2199
HP:0011124	Abnormal epidermal morphology	3857	KRT9	ORPHA:2199
HP:0011124	Abnormal epidermal morphology	26525	IL36RN	OMIM:614204
HP:0011124	Abnormal epidermal morphology	80326	WNT10A	OMIM:257980
HP:0011124	Abnormal epidermal morphology	1475	CSTA	OMIM:607936
HP:0011124	Abnormal epidermal morphology	79092	CARD14	OMIM:602723
HP:0011124	Abnormal epidermal morphology	204219	CERS3	OMIM:615023
HP:0011124	Abnormal epidermal morphology	2697	GJA1	OMIM:617525
HP:0011124	Abnormal epidermal morphology	23086	EXPH5	OMIM:615028
HP:0011124	Abnormal epidermal morphology	3860	KRT13	OMIM:615785
HP:0011124	Abnormal epidermal morphology	2531	KDSR	OMIM:617526
HP:0011124	Abnormal epidermal morphology	4014	LORICRIN	ORPHA:79395
HP:0011124	Abnormal epidermal morphology	64131	XYLT1	OMIM:264800
HP:0011124	Abnormal epidermal morphology	64132	XYLT2	OMIM:264800
HP:0011124	Abnormal epidermal morphology	368	ABCC6	OMIM:264800
HP:0011124	Abnormal epidermal morphology	3575	IL7R	ORPHA:169154
HP:0011124	Abnormal epidermal morphology	987	LRBA	OMIM:614700
HP:0011124	Abnormal epidermal morphology	23586	RIGI	OMIM:616298
HP:0011124	Abnormal epidermal morphology	2312	FLG	OMIM:146700
HP:0011124	Abnormal epidermal morphology	1893	ECM1	OMIM:247100
HP:0011124	Abnormal epidermal morphology	5317	PKP1	OMIM:604536
HP:0011124	Abnormal epidermal morphology	5317	PKP1	ORPHA:158668
HP:0011124	Abnormal epidermal morphology	3939	LDHA	ORPHA:284426
HP:0011124	Abnormal epidermal morphology	3858	KRT10	OMIM:607602
HP:0011124	Abnormal epidermal morphology	3858	KRT10	OMIM:609165
HP:0011124	Abnormal epidermal morphology	6820	SULT2B1	OMIM:617571
HP:0011124	Abnormal epidermal morphology	9526	MPDU1	OMIM:609180
HP:0011124	Abnormal epidermal morphology	9526	MPDU1	ORPHA:79323
HP:0011124	Abnormal epidermal morphology	80067	DCAF17	ORPHA:3464
HP:0011124	Abnormal epidermal morphology	3832	KIF11	ORPHA:2526
HP:0011124	Abnormal epidermal morphology	3815	KIT	ORPHA:79455
HP:0011124	Abnormal epidermal morphology	6868	ADAM17	ORPHA:294023
HP:0011124	Abnormal epidermal morphology	9180	OSMR	OMIM:105250
HP:0011124	Abnormal epidermal morphology	388698	FLG2	OMIM:618084
HP:0011124	Abnormal epidermal morphology	4000	LMNA	ORPHA:1662
HP:0011124	Abnormal epidermal morphology	10269	ZMPSTE24	ORPHA:1662
HP:0011124	Abnormal epidermal morphology	10269	ZMPSTE24	OMIM:275210
HP:0011124	Abnormal epidermal morphology	5921	RASA1	ORPHA:90307
HP:0011124	Abnormal epidermal morphology	9333	TGM5	ORPHA:263534
HP:0011124	Abnormal epidermal morphology	9333	TGM5	OMIM:609796
HP:0011124	Abnormal epidermal morphology	23328	SASH1	OMIM:618373
HP:0011124	Abnormal epidermal morphology	146206	CARMIL2	OMIM:618131
HP:0011124	Abnormal epidermal morphology	10682	EBP	ORPHA:35173
HP:0011124	Abnormal epidermal morphology	55012	PPP2R3C	OMIM:618419
HP:0011124	Abnormal epidermal morphology	2783	GNB2	OMIM:619503
HP:0011124	Abnormal epidermal morphology	6785	ELOVL4	OMIM:614457
HP:0011124	Abnormal epidermal morphology	25939	SAMHD1	OMIM:612952
HP:0011124	Abnormal epidermal morphology	3559	IL2RA	OMIM:606367
HP:0011124	Abnormal epidermal morphology	165918	RNF168	ORPHA:420741
HP:0011124	Abnormal epidermal morphology	64377	CHST8	OMIM:616265
HP:0011124	Abnormal epidermal morphology	23581	CASP14	OMIM:617320
HP:0011124	Abnormal epidermal morphology	3849	KRT2	ORPHA:455
HP:0011124	Abnormal epidermal morphology	1832	DSP	OMIM:609638
HP:0011124	Abnormal epidermal morphology	1832	DSP	ORPHA:158687
HP:0011124	Abnormal epidermal morphology	7286	TUFT1	OMIM:607655
HP:0011124	Abnormal epidermal morphology	3106	HLA-B	ORPHA:36426
HP:0011124	Abnormal epidermal morphology	10320	IKZF1	ORPHA:36426
HP:0011124	Abnormal epidermal morphology	3728	JUP	OMIM:601214
HP:0011124	Abnormal epidermal morphology	3728	JUP	ORPHA:158687
HP:0011124	Abnormal epidermal morphology	831	CAST	OMIM:616295
HP:0011124	Abnormal epidermal morphology	488	ATP2A2	OMIM:101900
HP:0011124	Abnormal epidermal morphology	488	ATP2A2	ORPHA:79151
HP:0011124	Abnormal epidermal morphology	488	ATP2A2	OMIM:124200
HP:0011124	Abnormal epidermal morphology	1828	DSG1	OMIM:615508
HP:0011124	Abnormal epidermal morphology	27032	ATP2C1	ORPHA:2841
HP:0011125	Abnormality of dermal melanosomes	5873	RAB27A	OMIM:607624
HP:0011125	Abnormality of dermal melanosomes	4644	MYO5A	OMIM:214450
HP:0011125	Abnormality of dermal melanosomes	8943	AP3D1	ORPHA:54
HP:0011125	Abnormality of dermal melanosomes	4935	GPR143	ORPHA:54
HP:0011125	Abnormality of dermal melanosomes	4935	GPR143	OMIM:300500
HP:0011125	Abnormality of dermal melanosomes	1130	LYST	OMIM:214500
HP:0011125	Abnormality of dermal melanosomes	778	CACNA1F	OMIM:300600
HP:0011125	Abnormality of dermal melanosomes	8546	AP3B1	OMIM:608233
HP:0011126	Nephroptosis	4174	MCM5	OMIM:617564
HP:0011127	Perioral eczema	4689	NCF4	OMIM:613960
HP:0011127	Perioral eczema	3141	HLCS	ORPHA:79242
HP:0011129	Bilateral fetal pyelectasis	2271	FH	OMIM:606812
HP:0011129	Bilateral fetal pyelectasis	5277	PIGA	OMIM:300868
HP:0011122	Abnormality of skin physiology	8036	SHOC2	OMIM:607721
HP:0011122	Abnormality of skin physiology	2235	FECH	OMIM:177000
HP:0011122	Abnormality of skin physiology	2235	FECH	ORPHA:79278
HP:0011122	Abnormality of skin physiology	26960	NBEA	OMIM:619157
HP:0011122	Abnormality of skin physiology	6016	RIT1	OMIM:615355
HP:0011122	Abnormality of skin physiology	6777	STAT5B	OMIM:618985
HP:0011122	Abnormality of skin physiology	9759	HDAC4	ORPHA:1001
HP:0011122	Abnormality of skin physiology	9759	HDAC4	OMIM:600430
HP:0011122	Abnormality of skin physiology	57122	NUP107	OMIM:618348
HP:0011122	Abnormality of skin physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0011122	Abnormality of skin physiology	100151683	RNU4ATAC	OMIM:616651
HP:0011122	Abnormality of skin physiology	3119	HLA-DQB1	ORPHA:703
HP:0011122	Abnormality of skin physiology	3119	HLA-DQB1	OMIM:212750
HP:0011122	Abnormality of skin physiology	2767	GNA11	ORPHA:428
HP:0011122	Abnormality of skin physiology	846	CASR	ORPHA:428
HP:0011122	Abnormality of skin physiology	114803	MYSM1	ORPHA:508542
HP:0011122	Abnormality of skin physiology	114803	MYSM1	OMIM:618116
HP:0011122	Abnormality of skin physiology	4522	MTHFD1	OMIM:617780
HP:0011122	Abnormality of skin physiology	3021	H3-3B	OMIM:619721
HP:0011122	Abnormality of skin physiology	841	CASP8	OMIM:607271
HP:0011122	Abnormality of skin physiology	79644	SRD5A3	OMIM:612379
HP:0011122	Abnormality of skin physiology	5053	PAH	OMIM:261600
HP:0011122	Abnormality of skin physiology	5053	PAH	ORPHA:79254
HP:0011122	Abnormality of skin physiology	8626	TP63	OMIM:103285
HP:0011122	Abnormality of skin physiology	134218	DNAJC21	ORPHA:811
HP:0011122	Abnormality of skin physiology	134218	DNAJC21	OMIM:617052
HP:0011122	Abnormality of skin physiology	79631	EFL1	ORPHA:811
HP:0011122	Abnormality of skin physiology	51119	SBDS	ORPHA:811
HP:0011122	Abnormality of skin physiology	16	AARS1	OMIM:619691
HP:0011122	Abnormality of skin physiology	7454	WAS	OMIM:300299
HP:0011122	Abnormality of skin physiology	7454	WAS	OMIM:301000
HP:0011122	Abnormality of skin physiology	7454	WAS	ORPHA:906
HP:0011122	Abnormality of skin physiology	7454	WAS	OMIM:313900
HP:0011122	Abnormality of skin physiology	1896	EDA	OMIM:305100
HP:0011122	Abnormality of skin physiology	7780	SLC30A2	OMIM:608118
HP:0011122	Abnormality of skin physiology	7941	PLA2G7	OMIM:147050
HP:0011122	Abnormality of skin physiology	50615	IL21R	OMIM:147050
HP:0011122	Abnormality of skin physiology	3566	IL4R	OMIM:147050
HP:0011122	Abnormality of skin physiology	2206	MS4A2	OMIM:147050
HP:0011122	Abnormality of skin physiology	284058	KANSL1	ORPHA:363958
HP:0011122	Abnormality of skin physiology	284058	KANSL1	ORPHA:363965
HP:0011122	Abnormality of skin physiology	284058	KANSL1	OMIM:610443
HP:0011122	Abnormality of skin physiology	6601	SMARCC2	OMIM:618362
HP:0011122	Abnormality of skin physiology	54496	PRMT7	OMIM:617157
HP:0011122	Abnormality of skin physiology	54496	PRMT7	ORPHA:464288
HP:0011122	Abnormality of skin physiology	8260	NAA10	OMIM:300855
HP:0011122	Abnormality of skin physiology	6774	STAT3	ORPHA:2314
HP:0011122	Abnormality of skin physiology	6774	STAT3	OMIM:615952
HP:0011122	Abnormality of skin physiology	816	CAMK2B	OMIM:617799
HP:0011122	Abnormality of skin physiology	10616	RBCK1	OMIM:615895
HP:0011122	Abnormality of skin physiology	3117	HLA-DQA1	OMIM:212750
HP:0011122	Abnormality of skin physiology	6821	SUOX	OMIM:272300
HP:0011122	Abnormality of skin physiology	5095	PCCA	OMIM:606054
HP:0011122	Abnormality of skin physiology	5096	PCCB	OMIM:606054
HP:0011122	Abnormality of skin physiology	1717	DHCR7	OMIM:270400
HP:0011122	Abnormality of skin physiology	4478	MSN	OMIM:300988
HP:0011122	Abnormality of skin physiology	26053	AUTS2	ORPHA:352490
HP:0011122	Abnormality of skin physiology	51428	DDX41	OMIM:616871
HP:0011122	Abnormality of skin physiology	2313	FLI1	OMIM:617443
HP:0011122	Abnormality of skin physiology	2313	FLI1	ORPHA:2308
HP:0011122	Abnormality of skin physiology	93627	TBCK	ORPHA:488632
HP:0011122	Abnormality of skin physiology	1474	CST6	OMIM:618535
HP:0011122	Abnormality of skin physiology	25942	SIN3A	OMIM:613406
HP:0011122	Abnormality of skin physiology	3981	LIG4	ORPHA:235
HP:0011122	Abnormality of skin physiology	54888	NSUN2	ORPHA:235
HP:0011122	Abnormality of skin physiology	54888	NSUN2	OMIM:611091
HP:0011122	Abnormality of skin physiology	10043	TOM1	ORPHA:391487
HP:0011122	Abnormality of skin physiology	10043	TOM1	OMIM:619510
HP:0011122	Abnormality of skin physiology	10526	IPO8	OMIM:619472
HP:0011122	Abnormality of skin physiology	54914	FOCAD	OMIM:619991
HP:0011122	Abnormality of skin physiology	126695	KDF1	OMIM:617337
HP:0011122	Abnormality of skin physiology	126695	KDF1	ORPHA:1810
HP:0011122	Abnormality of skin physiology	7456	WIPF1	ORPHA:906
HP:0011122	Abnormality of skin physiology	7456	WIPF1	OMIM:614493
HP:0011122	Abnormality of skin physiology	3575	IL7R	OMIM:608971
HP:0011122	Abnormality of skin physiology	25914	RTTN	ORPHA:468631
HP:0011122	Abnormality of skin physiology	55719	SLF2	OMIM:620184
HP:0011122	Abnormality of skin physiology	79092	CARD14	ORPHA:2897
HP:0011122	Abnormality of skin physiology	283209	PGM2L1	OMIM:620191
HP:0011122	Abnormality of skin physiology	6595	SMARCA2	ORPHA:3051
HP:0011122	Abnormality of skin physiology	6595	SMARCA2	OMIM:601358
HP:0011122	Abnormality of skin physiology	6872	TAF1	OMIM:300966
HP:0011122	Abnormality of skin physiology	23387	SIK3	OMIM:618162
HP:0011122	Abnormality of skin physiology	3978	LIG1	OMIM:619774
HP:0011122	Abnormality of skin physiology	5879	RAC1	OMIM:617751
HP:0011122	Abnormality of skin physiology	5879	RAC1	ORPHA:500159
HP:0011122	Abnormality of skin physiology	2678	GGT1	OMIM:231950
HP:0011122	Abnormality of skin physiology	203190	LGI3	OMIM:620007
HP:0011122	Abnormality of skin physiology	404672	GTF2H5	ORPHA:33364
HP:0011122	Abnormality of skin physiology	833	CARS1	ORPHA:33364
HP:0011122	Abnormality of skin physiology	2068	ERCC2	ORPHA:33364
HP:0011122	Abnormality of skin physiology	7737	RNF113A	ORPHA:33364
HP:0011122	Abnormality of skin physiology	136647	MPLKIP	ORPHA:33364
HP:0011122	Abnormality of skin physiology	6897	TARS1	ORPHA:33364
HP:0011122	Abnormality of skin physiology	2071	ERCC3	ORPHA:33364
HP:0011122	Abnormality of skin physiology	2961	GTF2E2	ORPHA:33364
HP:0011122	Abnormality of skin physiology	9526	MPDU1	ORPHA:79323
HP:0011122	Abnormality of skin physiology	9333	TGM5	ORPHA:263534
HP:0011122	Abnormality of skin physiology	1475	CSTA	ORPHA:263534
HP:0011122	Abnormality of skin physiology	55181	SMG8	OMIM:619268
HP:0011122	Abnormality of skin physiology	56160	NSMCE3	OMIM:617241
HP:0011122	Abnormality of skin physiology	5426	POLE	OMIM:618336
HP:0011122	Abnormality of skin physiology	940	CD28	ORPHA:2584
HP:0011122	Abnormality of skin physiology	7133	TNFRSF1B	ORPHA:2584
HP:0011122	Abnormality of skin physiology	7189	TRAF6	ORPHA:1810
HP:0011122	Abnormality of skin physiology	128178	EDARADD	ORPHA:1810
HP:0011122	Abnormality of skin physiology	10913	EDAR	ORPHA:1810
HP:0011122	Abnormality of skin physiology	2312	FLG	OMIM:146700
HP:0011122	Abnormality of skin physiology	144811	LACC1	ORPHA:85414
HP:0011122	Abnormality of skin physiology	144811	LACC1	OMIM:618795
HP:0011122	Abnormality of skin physiology	4282	MIF	ORPHA:85414
HP:0011122	Abnormality of skin physiology	3569	IL6	ORPHA:85414
HP:0011122	Abnormality of skin physiology	79650	USB1	OMIM:604173
HP:0011122	Abnormality of skin physiology	58484	NLRC4	OMIM:616050
HP:0011122	Abnormality of skin physiology	55788	LMBRD1	OMIM:277380
HP:0011122	Abnormality of skin physiology	55788	LMBRD1	ORPHA:79284
HP:0011122	Abnormality of skin physiology	5699	PSMB10	OMIM:619175
HP:0011122	Abnormality of skin physiology	7128	TNFAIP3	OMIM:616744
HP:0011122	Abnormality of skin physiology	10095	ARPC1B	OMIM:617718
HP:0011122	Abnormality of skin physiology	7010	TEK	ORPHA:1059
HP:0011122	Abnormality of skin physiology	23152	CIC	OMIM:617600
HP:0011122	Abnormality of skin physiology	2697	GJA1	ORPHA:317
HP:0011122	Abnormality of skin physiology	2531	KDSR	ORPHA:317
HP:0011122	Abnormality of skin physiology	127534	GJB4	ORPHA:317
HP:0011122	Abnormality of skin physiology	84701	COX4I2	OMIM:612714
HP:0011122	Abnormality of skin physiology	54	ACP5	ORPHA:1855
HP:0011122	Abnormality of skin physiology	4069	LYZ	OMIM:105200
HP:0011122	Abnormality of skin physiology	2243	FGA	OMIM:105200
HP:0011122	Abnormality of skin physiology	335	APOA1	OMIM:105200
HP:0011122	Abnormality of skin physiology	567	B2M	OMIM:105200
HP:0011122	Abnormality of skin physiology	3115	HLA-DPB1	ORPHA:900
HP:0011122	Abnormality of skin physiology	5657	PRTN3	ORPHA:900
HP:0011122	Abnormality of skin physiology	3113	HLA-DPA1	ORPHA:900
HP:0011122	Abnormality of skin physiology	5971	RELB	OMIM:617585
HP:0011122	Abnormality of skin physiology	5788	PTPRC	OMIM:619924
HP:0011122	Abnormality of skin physiology	2073	ERCC5	ORPHA:220295
HP:0011122	Abnormality of skin physiology	2072	ERCC4	ORPHA:220295
HP:0011122	Abnormality of skin physiology	55739	NAXD	OMIM:618321
HP:0011122	Abnormality of skin physiology	5692	PSMB4	OMIM:617591
HP:0011122	Abnormality of skin physiology	5698	PSMB9	OMIM:617591
HP:0011122	Abnormality of skin physiology	3937	LCP2	OMIM:619374
HP:0011122	Abnormality of skin physiology	6389	SDHA	ORPHA:44890
HP:0011122	Abnormality of skin physiology	6390	SDHB	ORPHA:44890
HP:0011122	Abnormality of skin physiology	6391	SDHC	ORPHA:44890
HP:0011122	Abnormality of skin physiology	340024	SLC6A19	ORPHA:2116
HP:0011122	Abnormality of skin physiology	57393	CLTRN	ORPHA:2116
HP:0011122	Abnormality of skin physiology	3458	IFNG	OMIM:618963
HP:0011122	Abnormality of skin physiology	10892	MALT1	OMIM:615468
HP:0011122	Abnormality of skin physiology	9181	ARHGEF2	OMIM:617523
HP:0011122	Abnormality of skin physiology	204	AK2	ORPHA:33355
HP:0011122	Abnormality of skin physiology	56916	SMARCAD1	ORPHA:1658
HP:0011122	Abnormality of skin physiology	6335	SCN9A	OMIM:133020
HP:0011122	Abnormality of skin physiology	6335	SCN9A	ORPHA:90026
HP:0011122	Abnormality of skin physiology	4352	MPL	ORPHA:71493
HP:0011122	Abnormality of skin physiology	4352	MPL	ORPHA:729
HP:0011122	Abnormality of skin physiology	7066	THPO	ORPHA:71493
HP:0011122	Abnormality of skin physiology	3717	JAK2	ORPHA:71493
HP:0011122	Abnormality of skin physiology	3717	JAK2	ORPHA:729
HP:0011122	Abnormality of skin physiology	6809	STX3	ORPHA:2290
HP:0011122	Abnormality of skin physiology	4645	MYO5B	ORPHA:2290
HP:0011122	Abnormality of skin physiology	4645	MYO5B	OMIM:619868
HP:0011122	Abnormality of skin physiology	1499	CTNNB1	ORPHA:91414
HP:0011122	Abnormality of skin physiology	5156	PDGFRA	OMIM:607685
HP:0011122	Abnormality of skin physiology	2057	EPOR	ORPHA:90042
HP:0011122	Abnormality of skin physiology	1776	DNASE1L3	ORPHA:36412
HP:0011122	Abnormality of skin physiology	80270	HSD3B7	ORPHA:79301
HP:0011122	Abnormality of skin physiology	5314	PKHD1	ORPHA:53035
HP:0011122	Abnormality of skin physiology	362	AQP5	ORPHA:2337
HP:0011122	Abnormality of skin physiology	7512	XPNPEP2	ORPHA:100057
HP:0011122	Abnormality of skin physiology	831	CAST	OMIM:616295
HP:0011122	Abnormality of skin physiology	84936	ZFYVE19	OMIM:619849
HP:0011122	Abnormality of skin physiology	672	BRCA1	ORPHA:70567
HP:0011122	Abnormality of skin physiology	675	BRCA2	ORPHA:70567
HP:0011122	Abnormality of skin physiology	5774	PTPN3	ORPHA:70567
HP:0011122	Abnormality of skin physiology	64065	PERP	OMIM:619208
HP:0011122	Abnormality of skin physiology	488	ATP2A2	OMIM:124200
HP:0011122	Abnormality of skin physiology	488	ATP2A2	ORPHA:218
HP:0011122	Abnormality of skin physiology	51473	DCDC2	OMIM:617394
HP:0011122	Abnormality of skin physiology	2859	GPR35	ORPHA:171
HP:0011122	Abnormality of skin physiology	10507	SEMA4D	ORPHA:171
HP:0011122	Abnormality of skin physiology	4485	MST1	ORPHA:171
HP:0011122	Abnormality of skin physiology	6925	TCF4	ORPHA:171
HP:0011122	Abnormality of skin physiology	11280	SCN11A	ORPHA:90026
HP:0011122	Abnormality of skin physiology	11280	SCN11A	OMIM:615548
HP:0011122	Abnormality of skin physiology	6336	SCN10A	ORPHA:90026
HP:0011122	Abnormality of skin physiology	6768	ST14	OMIM:602400
HP:0011122	Abnormality of skin physiology	63894	VIPAS39	OMIM:613404
HP:0011122	Abnormality of skin physiology	1832	DSP	OMIM:615821
HP:0011122	Abnormality of skin physiology	28234	SLCO1B3	ORPHA:3111
HP:0011122	Abnormality of skin physiology	10599	SLCO1B1	ORPHA:3111
HP:0011122	Abnormality of skin physiology	57003	CCDC47	OMIM:618268
HP:0011122	Abnormality of skin physiology	8482	SEMA7A	OMIM:619874
HP:0011122	Abnormality of skin physiology	5339	PLEC	OMIM:616487
HP:0011122	Abnormality of skin physiology	540	ATP7B	ORPHA:905
HP:0011122	Abnormality of skin physiology	5336	PLCG2	OMIM:614468
HP:0011122	Abnormality of skin physiology	4157	MC1R	ORPHA:626
HP:0011122	Abnormality of skin physiology	4893	NRAS	ORPHA:626
HP:0011122	Abnormality of skin physiology	3122	HLA-DRA	ORPHA:505
HP:0011122	Abnormality of skin physiology	4035	LRP1	ORPHA:79100
HP:0011122	Abnormality of skin physiology	3594	IL12RB1	ORPHA:186
HP:0011122	Abnormality of skin physiology	23534	TNPO3	ORPHA:186
HP:0011122	Abnormality of skin physiology	6689	SPIB	ORPHA:186
HP:0011122	Abnormality of skin physiology	5450	POU2AF1	ORPHA:186
HP:0011122	Abnormality of skin physiology	9966	TNFSF15	ORPHA:186
HP:0011122	Abnormality of skin physiology	79258	MMEL1	ORPHA:186
HP:0011122	Abnormality of skin physiology	3663	IRF5	ORPHA:186
HP:0011122	Abnormality of skin physiology	2934	GSN	ORPHA:85448
HP:0011122	Abnormality of skin physiology	162514	TRPV3	OMIM:614594
HP:0011122	Abnormality of skin physiology	10654	PMVK	ORPHA:735
HP:0011122	Abnormality of skin physiology	9414	TJP2	OMIM:607748
HP:0011122	Abnormality of skin physiology	9968	MED12	OMIM:301068
HP:0011122	Abnormality of skin physiology	9076	CLDN1	OMIM:607626
HP:0011122	Abnormality of skin physiology	9180	OSMR	OMIM:105250
HP:0011122	Abnormality of skin physiology	147409	DSG4	OMIM:607903
HP:0011122	Abnormality of skin physiology	55898	UNC45A	OMIM:619377
HP:0011122	Abnormality of skin physiology	64377	CHST8	OMIM:616265
HP:0011122	Abnormality of skin physiology	54532	USP53	OMIM:619658
HP:0011122	Abnormality of skin physiology	133396	IL31RA	OMIM:613955
HP:0011122	Abnormality of skin physiology	2271	FH	ORPHA:523
HP:0011122	Abnormality of skin physiology	375056	MIA3	OMIM:619269
HP:0011122	Abnormality of skin physiology	113220	KIF12	OMIM:619662
HP:0011122	Abnormality of skin physiology	10457	GPNMB	OMIM:617920
HP:0011122	Abnormality of skin physiology	2034	EPAS1	OMIM:611783
HP:0011122	Abnormality of skin physiology	2224	FDPS	ORPHA:79152
HP:0011122	Abnormality of skin physiology	4597	MVD	ORPHA:79152
HP:0011122	Abnormality of skin physiology	63910	SLC17A9	ORPHA:79152
HP:0011122	Abnormality of skin physiology	26276	VPS33B	OMIM:620010
HP:0011122	Abnormality of skin physiology	3988	LIPA	ORPHA:75234
HP:0011122	Abnormality of skin physiology	3909	LAMA3	ORPHA:79404
HP:0011122	Abnormality of skin physiology	3918	LAMC2	ORPHA:79404
HP:0011122	Abnormality of skin physiology	3914	LAMB3	ORPHA:79404
HP:0011122	Abnormality of skin physiology	3587	IL10RA	OMIM:613148
HP:0011122	Abnormality of skin physiology	695	BTK	OMIM:300755
HP:0011122	Abnormality of skin physiology	695	BTK	OMIM:307200
HP:0011122	Abnormality of skin physiology	126410	CYP4F22	OMIM:604777
HP:0011122	Abnormality of skin physiology	126410	CYP4F22	ORPHA:313
HP:0011122	Abnormality of skin physiology	7051	TGM1	OMIM:242300
HP:0011122	Abnormality of skin physiology	7051	TGM1	ORPHA:100976
HP:0011122	Abnormality of skin physiology	7051	TGM1	ORPHA:79394
HP:0011122	Abnormality of skin physiology	7051	TGM1	ORPHA:313
HP:0011122	Abnormality of skin physiology	3858	KRT10	ORPHA:312
HP:0011122	Abnormality of skin physiology	3858	KRT10	OMIM:609165
HP:0011122	Abnormality of skin physiology	348938	NIPAL4	OMIM:612281
HP:0011122	Abnormality of skin physiology	348938	NIPAL4	ORPHA:79394
HP:0011122	Abnormality of skin physiology	348938	NIPAL4	ORPHA:313
HP:0011122	Abnormality of skin physiology	6023	RMRP	ORPHA:39041
HP:0011122	Abnormality of skin physiology	55636	CHD7	ORPHA:39041
HP:0011122	Abnormality of skin physiology	5896	RAG1	ORPHA:39041
HP:0011122	Abnormality of skin physiology	5896	RAG1	OMIM:603554
HP:0011122	Abnormality of skin physiology	5897	RAG2	ORPHA:39041
HP:0011122	Abnormality of skin physiology	5897	RAG2	OMIM:603554
HP:0011122	Abnormality of skin physiology	100	ADA	ORPHA:39041
HP:0011122	Abnormality of skin physiology	1041	CDSN	OMIM:270300
HP:0011122	Abnormality of skin physiology	10999	SLC27A4	OMIM:608649
HP:0011122	Abnormality of skin physiology	162	AP1B1	OMIM:242150
HP:0011122	Abnormality of skin physiology	2137	EXTL3	OMIM:617425
HP:0011122	Abnormality of skin physiology	6785	ELOVL4	OMIM:133190
HP:0011122	Abnormality of skin physiology	26154	ABCA12	ORPHA:457
HP:0011122	Abnormality of skin physiology	26154	ABCA12	ORPHA:79394
HP:0011122	Abnormality of skin physiology	26154	ABCA12	ORPHA:313
HP:0011122	Abnormality of skin physiology	57609	DIP2B	OMIM:136630
HP:0011122	Abnormality of skin physiology	4047	LSS	OMIM:618840
HP:0011122	Abnormality of skin physiology	2707	GJB3	OMIM:133200
HP:0011122	Abnormality of skin physiology	10682	EBP	OMIM:302960
HP:0011122	Abnormality of skin physiology	10682	EBP	ORPHA:35173
HP:0011122	Abnormality of skin physiology	204219	CERS3	OMIM:615023
HP:0011122	Abnormality of skin physiology	204219	CERS3	ORPHA:79394
HP:0011122	Abnormality of skin physiology	285848	PNPLA1	OMIM:615024
HP:0011122	Abnormality of skin physiology	285848	PNPLA1	ORPHA:79394
HP:0011122	Abnormality of skin physiology	242	ALOX12B	ORPHA:79394
HP:0011122	Abnormality of skin physiology	242	ALOX12B	ORPHA:313
HP:0011122	Abnormality of skin physiology	59344	ALOXE3	ORPHA:79394
HP:0011122	Abnormality of skin physiology	59344	ALOXE3	ORPHA:313
HP:0011122	Abnormality of skin physiology	151516	ASPRV1	ORPHA:313
HP:0011122	Abnormality of skin physiology	6820	SULT2B1	ORPHA:313
HP:0011122	Abnormality of skin physiology	643418	LIPN	ORPHA:313
HP:0011122	Abnormality of skin physiology	121214	SDR9C7	ORPHA:313
HP:0011122	Abnormality of skin physiology	2615	LRRC32	OMIM:619074
HP:0011122	Abnormality of skin physiology	388698	FLG2	OMIM:618084
HP:0011122	Abnormality of skin physiology	91754	NEK9	OMIM:614262
HP:0011122	Abnormality of skin physiology	121391	KRT74	ORPHA:90368
HP:0011122	Abnormality of skin physiology	22800	RRAS2	OMIM:618624
HP:0011122	Abnormality of skin physiology	8456	FOXN1	OMIM:618806
HP:0011122	Abnormality of skin physiology	10060	ABCC9	OMIM:619719
HP:0011122	Abnormality of skin physiology	10847	SRCAP	OMIM:136140
HP:0011122	Abnormality of skin physiology	23102	TBC1D2B	ORPHA:397973
HP:0011122	Abnormality of skin physiology	3313	HSPA9	OMIM:616854
HP:0011122	Abnormality of skin physiology	22880	MORC2	ORPHA:466768
HP:0011122	Abnormality of skin physiology	64135	IFIH1	OMIM:615846
HP:0011122	Abnormality of skin physiology	2783	GNB2	OMIM:619503
HP:0011122	Abnormality of skin physiology	3716	JAK1	OMIM:618999
HP:0011122	Abnormality of skin physiology	5290	PIK3CA	ORPHA:276280
HP:0011122	Abnormality of skin physiology	6578	SLCO2A1	OMIM:614441
HP:0011122	Abnormality of skin physiology	6578	SLCO2A1	OMIM:167100
HP:0011122	Abnormality of skin physiology	6578	SLCO2A1	ORPHA:2796
HP:0011122	Abnormality of skin physiology	7922	SLC39A7	OMIM:619693
HP:0011122	Abnormality of skin physiology	686	BTD	OMIM:253260
HP:0011122	Abnormality of skin physiology	79755	ZNF750	OMIM:610227
HP:0011122	Abnormality of skin physiology	64087	MCCC2	OMIM:210210
HP:0011122	Abnormality of skin physiology	9939	RBM8A	OMIM:274000
HP:0011122	Abnormality of skin physiology	3248	HPGD	OMIM:259100
HP:0011122	Abnormality of skin physiology	3248	HPGD	ORPHA:2796
HP:0011122	Abnormality of skin physiology	1312	COMT	ORPHA:567
HP:0011122	Abnormality of skin physiology	221037	JMJD1C	ORPHA:567
HP:0011122	Abnormality of skin physiology	2812	GP1BB	ORPHA:567
HP:0011122	Abnormality of skin physiology	6239	RREB1	ORPHA:567
HP:0011122	Abnormality of skin physiology	6899	TBX1	ORPHA:567
HP:0011122	Abnormality of skin physiology	6899	TBX1	OMIM:188400
HP:0011122	Abnormality of skin physiology	7290	HIRA	ORPHA:567
HP:0011122	Abnormality of skin physiology	9632	SEC24C	ORPHA:567
HP:0011122	Abnormality of skin physiology	7353	UFD1	ORPHA:567
HP:0011122	Abnormality of skin physiology	421	ARVCF	ORPHA:567
HP:0011122	Abnormality of skin physiology	11322	TMC6	ORPHA:302
HP:0011122	Abnormality of skin physiology	3574	IL7	ORPHA:302
HP:0011122	Abnormality of skin physiology	147138	TMC8	ORPHA:302
HP:0011122	Abnormality of skin physiology	10519	CIB1	ORPHA:302
HP:0011122	Abnormality of skin physiology	5277	PIGA	OMIM:300868
HP:0011122	Abnormality of skin physiology	5277	PIGA	OMIM:301072
HP:0011122	Abnormality of skin physiology	146206	CARMIL2	OMIM:618131
HP:0011122	Abnormality of skin physiology	10758	TRAF3IP2	OMIM:615527
HP:0011122	Abnormality of skin physiology	7086	TKT	ORPHA:488618
HP:0011122	Abnormality of skin physiology	4210	MEFV	ORPHA:342
HP:0011122	Abnormality of skin physiology	4210	MEFV	OMIM:249100
HP:0011122	Abnormality of skin physiology	4210	MEFV	OMIM:134610
HP:0011122	Abnormality of skin physiology	3832	KIF11	ORPHA:2526
HP:0011122	Abnormality of skin physiology	9508	ADAMTS3	ORPHA:2136
HP:0011122	Abnormality of skin physiology	147372	CCBE1	ORPHA:2136
HP:0011122	Abnormality of skin physiology	147372	CCBE1	OMIM:235510
HP:0011122	Abnormality of skin physiology	79633	FAT4	ORPHA:2136
HP:0011122	Abnormality of skin physiology	7132	TNFRSF1A	OMIM:142680
HP:0011122	Abnormality of skin physiology	7132	TNFRSF1A	ORPHA:32960
HP:0011122	Abnormality of skin physiology	2324	FLT4	ORPHA:79452
HP:0011122	Abnormality of skin physiology	57165	GJC2	ORPHA:79452
HP:0011122	Abnormality of skin physiology	374393	FAM111B	OMIM:615704
HP:0011122	Abnormality of skin physiology	9563	H6PD	OMIM:604931
HP:0011122	Abnormality of skin physiology	9051	PSTPIP1	OMIM:604416
HP:0011122	Abnormality of skin physiology	9051	PSTPIP1	ORPHA:69126
HP:0011122	Abnormality of skin physiology	5566	PRKACA	OMIM:615830
HP:0011122	Abnormality of skin physiology	5566	PRKACA	ORPHA:189439
HP:0011122	Abnormality of skin physiology	8622	PDE8B	ORPHA:189439
HP:0011122	Abnormality of skin physiology	5573	PRKAR1A	ORPHA:189439
HP:0011122	Abnormality of skin physiology	50940	PDE11A	ORPHA:189439
HP:0011122	Abnormality of skin physiology	54361	WNT4	ORPHA:247768
HP:0011122	Abnormality of skin physiology	54361	WNT4	OMIM:158330
HP:0011122	Abnormality of skin physiology	285590	SH3PXD2B	ORPHA:137834
HP:0011122	Abnormality of skin physiology	285590	SH3PXD2B	OMIM:249420
HP:0011122	Abnormality of skin physiology	9060	PAPSS2	OMIM:612847
HP:0011122	Abnormality of skin physiology	2908	NR3C1	ORPHA:786
HP:0011122	Abnormality of skin physiology	2908	NR3C1	ORPHA:96253
HP:0011122	Abnormality of skin physiology	2099	ESR1	ORPHA:785
HP:0011122	Abnormality of skin physiology	2099	ESR1	OMIM:615363
HP:0011122	Abnormality of skin physiology	79798	ARMC5	ORPHA:189427
HP:0011122	Abnormality of skin physiology	2778	GNAS	ORPHA:189427
HP:0011122	Abnormality of skin physiology	1584	CYP11B1	ORPHA:90795
HP:0011122	Abnormality of skin physiology	1893	ECM1	ORPHA:530
HP:0011122	Abnormality of skin physiology	9663	LPIN2	ORPHA:77297
HP:0011122	Abnormality of skin physiology	84196	USP48	ORPHA:96253
HP:0011122	Abnormality of skin physiology	7157	TP53	ORPHA:96253
HP:0011122	Abnormality of skin physiology	9101	USP8	ORPHA:96253
HP:0011122	Abnormality of skin physiology	64072	CDH23	ORPHA:96253
HP:0011122	Abnormality of skin physiology	673	BRAF	ORPHA:96253
HP:0011122	Abnormality of skin physiology	546	ATRX	ORPHA:96253
HP:0011122	Abnormality of skin physiology	1201	CLN3	ORPHA:228346
HP:0011122	Abnormality of skin physiology	3973	LHCGR	ORPHA:3000
HP:0011122	Abnormality of skin physiology	83550	GPR101	ORPHA:963
HP:0011122	Abnormality of skin physiology	9049	AIP	ORPHA:963
HP:0011122	Abnormality of skin physiology	64131	XYLT1	ORPHA:370930
HP:0011122	Abnormality of skin physiology	4212	MEIS2	ORPHA:261190
HP:0011122	Abnormality of skin physiology	175	AGA	OMIM:208400
HP:0011122	Abnormality of skin physiology	5167	ENPP1	ORPHA:758
HP:0011122	Abnormality of skin physiology	368	ABCC6	ORPHA:758
HP:0011122	Abnormality of skin physiology	367	AR	ORPHA:99429
HP:0011122	Abnormality of skin physiology	2263	FGFR2	OMIM:101200
HP:0011122	Abnormality of skin physiology	149233	IL23R	ORPHA:117
HP:0011122	Abnormality of skin physiology	3586	IL10	ORPHA:117
HP:0011122	Abnormality of skin physiology	1230	CCR1	ORPHA:117
HP:0011122	Abnormality of skin physiology	355	FAS	ORPHA:117
HP:0011122	Abnormality of skin physiology	3592	IL12A	ORPHA:117
HP:0011122	Abnormality of skin physiology	101928376	IL12A-AS1	ORPHA:117
HP:0011122	Abnormality of skin physiology	3106	HLA-B	ORPHA:117
HP:0011122	Abnormality of skin physiology	7099	TLR4	ORPHA:117
HP:0011122	Abnormality of skin physiology	3459	IFNGR1	ORPHA:117
HP:0011122	Abnormality of skin physiology	720	C4A	ORPHA:117
HP:0011122	Abnormality of skin physiology	337867	UBAC2	ORPHA:117
HP:0011122	Abnormality of skin physiology	51752	ERAP1	ORPHA:117
HP:0011122	Abnormality of skin physiology	8302	KLRC4	ORPHA:117
HP:0011122	Abnormality of skin physiology	3572	IL6ST	OMIM:619752
HP:0011122	Abnormality of skin physiology	331	XIAP	OMIM:300635
HP:0011122	Abnormality of skin physiology	59335	PRDM12	OMIM:616488
HP:0011122	Abnormality of skin physiology	83706	FERMT3	OMIM:612840
HP:0011122	Abnormality of skin physiology	3570	IL6R	OMIM:618944
HP:0011122	Abnormality of skin physiology	3426	CFI	OMIM:610984
HP:0011122	Abnormality of skin physiology	54440	SASH3	OMIM:301082
HP:0011122	Abnormality of skin physiology	3655	ITGA6	ORPHA:79403
HP:0011122	Abnormality of skin physiology	3691	ITGB4	ORPHA:79403
HP:0011122	Abnormality of skin physiology	113189	CHST14	OMIM:601776
HP:0011122	Abnormality of skin physiology	113189	CHST14	ORPHA:2953
HP:0011122	Abnormality of skin physiology	51360	MBTPS2	OMIM:308205
HP:0011122	Abnormality of skin physiology	4312	MMP1	ORPHA:79408
HP:0011122	Abnormality of skin physiology	1294	COL7A1	ORPHA:79408
HP:0011122	Abnormality of skin physiology	1294	COL7A1	ORPHA:89842
HP:0011122	Abnormality of skin physiology	27086	FOXP1	ORPHA:391372
HP:0011122	Abnormality of skin physiology	10525	HYOU1	OMIM:233600
HP:0011122	Abnormality of skin physiology	4780	NFE2L2	OMIM:617744
HP:0011122	Abnormality of skin physiology	11005	SPINK5	OMIM:256500
HP:0011122	Abnormality of skin physiology	4790	NFKB1	OMIM:616576
HP:0011122	Abnormality of skin physiology	5294	PIK3CG	OMIM:619802
HP:0011122	Abnormality of skin physiology	9837	GINS1	OMIM:617827
HP:0011122	Abnormality of skin physiology	11128	POLR3A	ORPHA:3455
HP:0011122	Abnormality of skin physiology	84905	ZNF341	OMIM:618282
HP:0011122	Abnormality of skin physiology	5317	PKP1	ORPHA:158668
HP:0011122	Abnormality of skin physiology	55612	FERMT1	ORPHA:2908
HP:0011122	Abnormality of skin physiology	85358	SHANK3	ORPHA:48652
HP:0011122	Abnormality of skin physiology	29940	DSE	ORPHA:2953
HP:0011122	Abnormality of skin physiology	57591	MRTFA	OMIM:618847
HP:0011122	Abnormality of skin physiology	50943	FOXP3	ORPHA:37042
HP:0011122	Abnormality of skin physiology	2303	FOXC2	ORPHA:33001
HP:0011122	Abnormality of skin physiology	10312	TCIRG1	ORPHA:486
HP:0011122	Abnormality of skin physiology	2672	GFI1	ORPHA:486
HP:0011122	Abnormality of skin physiology	6729	SRP54	ORPHA:486
HP:0011122	Abnormality of skin physiology	81570	CLPB	ORPHA:486
HP:0011122	Abnormality of skin physiology	3848	KRT1	ORPHA:79503
HP:0011122	Abnormality of skin physiology	26258	BLOC1S6	OMIM:614171
HP:0011122	Abnormality of skin physiology	4153	MBL2	OMIM:614372
HP:0011122	Abnormality of skin physiology	1828	DSG1	OMIM:615508
HP:0011122	Abnormality of skin physiology	3852	KRT5	ORPHA:79396
HP:0011122	Abnormality of skin physiology	3861	KRT14	ORPHA:79396
HP:0011122	Abnormality of skin physiology	8883	NAE1	OMIM:620210
HP:0011122	Abnormality of skin physiology	6929	TCF3	ORPHA:33110
HP:0011122	Abnormality of skin physiology	973	CD79A	ORPHA:33110
HP:0011122	Abnormality of skin physiology	974	CD79B	ORPHA:33110
HP:0011122	Abnormality of skin physiology	3543	IGLL1	ORPHA:33110
HP:0011122	Abnormality of skin physiology	3507	IGHM	ORPHA:33110
HP:0011122	Abnormality of skin physiology	29760	BLNK	ORPHA:33110
HP:0011122	Abnormality of skin physiology	5295	PIK3R1	ORPHA:33110
HP:0011122	Abnormality of skin physiology	56262	LRRC8A	ORPHA:33110
HP:0011122	Abnormality of skin physiology	57724	EPG5	OMIM:242840
HP:0011122	Abnormality of skin physiology	3689	ITGB2	OMIM:116920
HP:0011122	Abnormality of skin physiology	5994	RFXAP	ORPHA:572
HP:0011122	Abnormality of skin physiology	5994	RFXAP	OMIM:209920
HP:0011122	Abnormality of skin physiology	4261	CIITA	ORPHA:572
HP:0011122	Abnormality of skin physiology	4261	CIITA	OMIM:209920
HP:0011122	Abnormality of skin physiology	5993	RFX5	ORPHA:572
HP:0011122	Abnormality of skin physiology	5993	RFX5	OMIM:209920
HP:0011122	Abnormality of skin physiology	8625	RFXANK	ORPHA:572
HP:0011122	Abnormality of skin physiology	8625	RFXANK	OMIM:209920
HP:0011122	Abnormality of skin physiology	84818	IL17RC	OMIM:616445
HP:0011122	Abnormality of skin physiology	112744	IL17F	OMIM:613956
HP:0011122	Abnormality of skin physiology	3431	SP110	ORPHA:79124
HP:0011122	Abnormality of skin physiology	6720	SREBF1	OMIM:158310
HP:0011122	Abnormality of skin physiology	4791	NFKB2	ORPHA:293978
HP:0011122	Abnormality of skin physiology	4791	NFKB2	OMIM:615577
HP:0011122	Abnormality of skin physiology	57217	TTC7A	OMIM:243150
HP:0011122	Abnormality of skin physiology	57217	TTC7A	ORPHA:436252
HP:0011122	Abnormality of skin physiology	8913	CACNA1G	ORPHA:458803
HP:0011122	Abnormality of skin physiology	3107	HLA-C	OMIM:177900
HP:0011122	Abnormality of skin physiology	2625	GATA3	ORPHA:2237
HP:0011122	Abnormality of skin physiology	130340	AP1S3	OMIM:616106
HP:0011122	Abnormality of skin physiology	64919	BCL11B	OMIM:617237
HP:0011122	Abnormality of skin physiology	5297	PI4KA	ORPHA:436252
HP:0011122	Abnormality of skin physiology	3514	IGKC	ORPHA:183675
HP:0011122	Abnormality of skin physiology	3501	IGHG2	ORPHA:183675
HP:0011122	Abnormality of skin physiology	359948	IRF2BP2	OMIM:617765
HP:0011122	Abnormality of skin physiology	55315	SLC29A3	ORPHA:168569
HP:0011122	Abnormality of skin physiology	6307	MSMO1	OMIM:616834
HP:0011122	Abnormality of skin physiology	1130	LYST	ORPHA:167
HP:0011122	Abnormality of skin physiology	1130	LYST	OMIM:214500
HP:0011122	Abnormality of skin physiology	3561	IL2RG	ORPHA:276
HP:0011122	Abnormality of skin physiology	10804	GJB6	ORPHA:477
HP:0011122	Abnormality of skin physiology	2706	GJB2	ORPHA:477
HP:0011122	Abnormality of skin physiology	2706	GJB2	OMIM:148210
HP:0011122	Abnormality of skin physiology	1536	CYBB	OMIM:306400
HP:0011122	Abnormality of skin physiology	4615	MYD88	ORPHA:183713
HP:0011122	Abnormality of skin physiology	1075	CTSC	OMIM:245010
HP:0011122	Abnormality of skin physiology	4688	NCF2	OMIM:233710
HP:0011122	Abnormality of skin physiology	653361	NCF1	OMIM:233700
HP:0011122	Abnormality of skin physiology	1535	CYBA	OMIM:233690
HP:0011122	Abnormality of skin physiology	7535	ZAP70	ORPHA:911
HP:0011122	Abnormality of skin physiology	7390	UROS	ORPHA:79277
HP:0011122	Abnormality of skin physiology	2623	GATA1	ORPHA:79277
HP:0011122	Abnormality of skin physiology	2050	EPHB4	ORPHA:90186
HP:0011122	Abnormality of skin physiology	6868	ADAM17	ORPHA:294023
HP:0011122	Abnormality of skin physiology	1956	EGFR	ORPHA:294023
HP:0011122	Abnormality of skin physiology	7389	UROD	ORPHA:95159
HP:0011122	Abnormality of skin physiology	81704	DOCK8	ORPHA:217390
HP:0011122	Abnormality of skin physiology	23592	LEMD3	ORPHA:166119
HP:0011122	Abnormality of skin physiology	5184	PEPD	OMIM:170100
HP:0011122	Abnormality of skin physiology	5184	PEPD	ORPHA:742
HP:0011122	Abnormality of skin physiology	727	C5	OMIM:609536
HP:0011122	Abnormality of skin physiology	915	CD3D	ORPHA:169160
HP:0011122	Abnormality of skin physiology	916	CD3E	ORPHA:169160
HP:0011122	Abnormality of skin physiology	919	CD247	ORPHA:169160
HP:0011122	Abnormality of skin physiology	64421	DCLRE1C	ORPHA:275
HP:0011122	Abnormality of skin physiology	3551	IKBKB	OMIM:615592
HP:0011122	Abnormality of skin physiology	6772	STAT1	OMIM:614162
HP:0011122	Abnormality of skin physiology	326	AIRE	OMIM:240300
HP:0011122	Abnormality of skin physiology	7037	TFRC	OMIM:616740
HP:0011122	Abnormality of skin physiology	3932	LCK	OMIM:615758
HP:0011122	Abnormality of skin physiology	959	CD40LG	OMIM:308230
HP:0011122	Abnormality of skin physiology	5293	PIK3CD	ORPHA:221139
HP:0011122	Abnormality of skin physiology	90417	KNSTRN	ORPHA:221139
HP:0011122	Abnormality of skin physiology	8546	AP3B1	OMIM:608233
HP:0011122	Abnormality of skin physiology	51311	TLR8	OMIM:301078
HP:0011122	Abnormality of skin physiology	9948	WDR1	OMIM:150550
HP:0011122	Abnormality of skin physiology	28755	TRAC	OMIM:615387
HP:0011122	Abnormality of skin physiology	11151	CORO1A	OMIM:615401
HP:0011122	Abnormality of skin physiology	1794	DOCK2	OMIM:616433
HP:0011122	Abnormality of skin physiology	917	CD3G	OMIM:615607
HP:0011122	Abnormality of skin physiology	3559	IL2RA	OMIM:606367
HP:0011122	Abnormality of skin physiology	3718	JAK3	ORPHA:35078
HP:0011122	Abnormality of skin physiology	1777	DNASE2	OMIM:619858
HP:0011122	Abnormality of skin physiology	25939	SAMHD1	OMIM:614415
HP:0011122	Abnormality of skin physiology	25939	SAMHD1	OMIM:612952
HP:0011122	Abnormality of skin physiology	25939	SAMHD1	ORPHA:51
HP:0011122	Abnormality of skin physiology	100147744	RNU7-1	OMIM:619487
HP:0011122	Abnormality of skin physiology	100147744	RNU7-1	ORPHA:51
HP:0011122	Abnormality of skin physiology	10535	RNASEH2A	ORPHA:51
HP:0011122	Abnormality of skin physiology	84153	RNASEH2C	ORPHA:51
HP:0011122	Abnormality of skin physiology	84153	RNASEH2C	OMIM:610329
HP:0011122	Abnormality of skin physiology	79621	RNASEH2B	ORPHA:51
HP:0011122	Abnormality of skin physiology	103	ADAR	ORPHA:51
HP:0011122	Abnormality of skin physiology	103	ADAR	OMIM:615010
HP:0011122	Abnormality of skin physiology	134353	LSM11	ORPHA:51
HP:0011122	Abnormality of skin physiology	2000	ELF4	OMIM:301074
HP:0011122	Abnormality of skin physiology	7040	TGFB1	OMIM:618213
HP:0011122	Abnormality of skin physiology	79415	CYBC1	OMIM:618935
HP:0011122	Abnormality of skin physiology	92579	G6PC3	OMIM:612541
HP:0011122	Abnormality of skin physiology	22806	IKZF3	OMIM:619437
HP:0011122	Abnormality of skin physiology	3588	IL10RB	OMIM:612567
HP:0011122	Abnormality of skin physiology	8737	RIPK1	OMIM:618108
HP:0011122	Abnormality of skin physiology	3110	MNX1	OMIM:176450
HP:0011122	Abnormality of skin physiology	1991	ELANE	ORPHA:2686
HP:0011122	Abnormality of skin physiology	22845	DOLK	OMIM:610768
HP:0011122	Abnormality of skin physiology	37	ACADVL	ORPHA:26793
HP:0011122	Abnormality of skin physiology	57104	PNPLA2	ORPHA:565612
HP:0011122	Abnormality of skin physiology	2683	B4GALT1	ORPHA:79332
HP:0011122	Abnormality of skin physiology	4689	NCF4	OMIM:613960
HP:0011122	Abnormality of skin physiology	3141	HLCS	ORPHA:79242
HP:0011122	Abnormality of skin physiology	90268	OTULIN	OMIM:619986
HP:0011122	Abnormality of skin physiology	55851	PSENEN	OMIM:613736
HP:0011122	Abnormality of skin physiology	5663	PSEN1	OMIM:613737
HP:0011122	Abnormality of skin physiology	6097	RORC	OMIM:616622
HP:0011122	Abnormality of skin physiology	64581	CLEC7A	OMIM:613108
HP:0011122	Abnormality of skin physiology	64127	NOD2	OMIM:186580
HP:0011122	Abnormality of skin physiology	64127	NOD2	ORPHA:90340
HP:0011122	Abnormality of skin physiology	3930	LBR	OMIM:613471
HP:0011122	Abnormality of skin physiology	51816	ADA2	OMIM:615688
HP:0011122	Abnormality of skin physiology	56244	BTNL2	OMIM:612387
HP:0011122	Abnormality of skin physiology	56244	BTNL2	ORPHA:797
HP:0011122	Abnormality of skin physiology	91662	NLRP12	OMIM:611762
HP:0011122	Abnormality of skin physiology	987	LRBA	OMIM:614700
HP:0011122	Abnormality of skin physiology	5696	PSMB8	OMIM:256040
HP:0011122	Abnormality of skin physiology	3123	HLA-DRB1	ORPHA:797
HP:0011122	Abnormality of skin physiology	10625	IVNS1ABP	OMIM:618969
HP:0011122	Abnormality of skin physiology	3872	KRT17	OMIM:167210
HP:0011122	Abnormality of skin physiology	7156	TOP3A	OMIM:618097
HP:0011122	Abnormality of skin physiology	8558	CDK10	OMIM:617694
HP:0011122	Abnormality of skin physiology	2212	FCGR2A	OMIM:152700
HP:0011122	Abnormality of skin physiology	2213	FCGR2B	OMIM:152700
HP:0011122	Abnormality of skin physiology	26191	PTPN22	OMIM:152700
HP:0011122	Abnormality of skin physiology	11277	TREX1	OMIM:152700
HP:0011122	Abnormality of skin physiology	1493	CTLA4	OMIM:152700
HP:0011122	Abnormality of skin physiology	1773	DNASE1	OMIM:152700
HP:0011122	Abnormality of skin physiology	641	BLM	OMIM:210900
HP:0011122	Abnormality of skin physiology	843	CASP10	OMIM:603909
HP:0011122	Abnormality of skin physiology	6775	STAT4	ORPHA:93552
HP:0011122	Abnormality of skin physiology	6696	SPP1	ORPHA:93552
HP:0011122	Abnormality of skin physiology	3654	IRAK1	ORPHA:93552
HP:0011122	Abnormality of skin physiology	51284	TLR7	OMIM:301080
HP:0011122	Abnormality of skin physiology	5205	ATP8B1	ORPHA:69665
HP:0011122	Abnormality of skin physiology	8647	ABCB11	ORPHA:69665
HP:0011122	Abnormality of skin physiology	5244	ABCB4	ORPHA:69665
HP:0011122	Abnormality of skin physiology	9971	NR1H4	ORPHA:69665
HP:0011122	Abnormality of skin physiology	3939	LDHA	ORPHA:284426
HP:0011122	Abnormality of skin physiology	57152	SLURP1	ORPHA:87503
HP:0011122	Abnormality of skin physiology	54795	TRPM4	OMIM:618531
HP:0011122	Abnormality of skin physiology	7317	UBA1	OMIM:301054
HP:0011122	Abnormality of skin physiology	51371	POMP	OMIM:618048
HP:0011122	Abnormality of skin physiology	1080	CFTR	ORPHA:498359
HP:0011122	Abnormality of skin physiology	219972	MPEG1	OMIM:619223
HP:0011122	Abnormality of skin physiology	4598	MVK	OMIM:260920
HP:0011122	Abnormality of skin physiology	5238	PGM3	OMIM:615816
HP:0011122	Abnormality of skin physiology	3071	NCKAP1L	OMIM:618982
HP:0011122	Abnormality of skin physiology	8517	IKBKG	OMIM:300291
HP:0011122	Abnormality of skin physiology	84433	CARD11	OMIM:617638
HP:0011122	Abnormality of skin physiology	64170	CARD9	OMIM:212050
HP:0011122	Abnormality of skin physiology	6850	SYK	OMIM:619381
HP:0011122	Abnormality of skin physiology	340061	STING1	OMIM:615934
HP:0011122	Abnormality of skin physiology	23765	IL17RA	OMIM:613953
HP:0011122	Abnormality of skin physiology	5950	RBP4	OMIM:615147
HP:0011122	Abnormality of skin physiology	23385	NCSTN	OMIM:142690
HP:0011122	Abnormality of skin physiology	56983	POGLUT1	ORPHA:79145
HP:0011122	Abnormality of skin physiology	23509	POFUT1	ORPHA:79145
HP:0011122	Abnormality of skin physiology	5551	PRF1	ORPHA:540
HP:0011122	Abnormality of skin physiology	8676	STX11	ORPHA:540
HP:0011122	Abnormality of skin physiology	201294	UNC13D	ORPHA:540
HP:0011122	Abnormality of skin physiology	6813	STXBP2	ORPHA:540
HP:0011122	Abnormality of skin physiology	171023	ASXL1	ORPHA:98850
HP:0011122	Abnormality of skin physiology	54790	TET2	ORPHA:98850
HP:0011122	Abnormality of skin physiology	867	CBL	ORPHA:98850
HP:0011122	Abnormality of skin physiology	861	RUNX1	ORPHA:98850
HP:0011122	Abnormality of skin physiology	6427	SRSF2	ORPHA:98850
HP:0011122	Abnormality of skin physiology	57169	ZNFX1	OMIM:619644
HP:0011122	Abnormality of skin physiology	114548	NLRP3	OMIM:191900
HP:0011122	Abnormality of skin physiology	3815	KIT	ORPHA:79455
HP:0011122	Abnormality of skin physiology	2038	EPB42	ORPHA:822
HP:0011122	Abnormality of skin physiology	6521	SLC4A1	ORPHA:822
HP:0011122	Abnormality of skin physiology	6710	SPTB	ORPHA:822
HP:0011122	Abnormality of skin physiology	6708	SPTA1	ORPHA:822
HP:0011122	Abnormality of skin physiology	286	ANK1	ORPHA:822
HP:0011122	Abnormality of skin physiology	7319	UBE2A	ORPHA:163956
HP:0011122	Abnormality of skin physiology	26525	IL36RN	OMIM:614204
HP:0011122	Abnormality of skin physiology	55630	SLC39A4	ORPHA:37
HP:0011122	Abnormality of skin physiology	6340	SCNN1G	ORPHA:171876
HP:0011122	Abnormality of skin physiology	6337	SCNN1A	ORPHA:171876
HP:0011122	Abnormality of skin physiology	6338	SCNN1B	ORPHA:171876
HP:0011122	Abnormality of skin physiology	1508	CTSB	ORPHA:50943
HP:0011122	Abnormality of skin physiology	3557	IL1RN	OMIM:612852
HP:0011121	Abnormality of skin morphology	3664	IRF6	OMIM:119300
HP:0011121	Abnormality of skin morphology	3664	IRF6	ORPHA:888
HP:0011121	Abnormality of skin morphology	3664	IRF6	OMIM:119500
HP:0011121	Abnormality of skin morphology	7403	KDM6A	OMIM:300867
HP:0011121	Abnormality of skin morphology	57822	GRHL3	ORPHA:888
HP:0011121	Abnormality of skin morphology	8367	H4C5	OMIM:619950
HP:0011121	Abnormality of skin morphology	8294	H4C9	OMIM:619951
HP:0011121	Abnormality of skin morphology	2138	EYA1	OMIM:113650
HP:0011121	Abnormality of skin morphology	2138	EYA1	ORPHA:107
HP:0011121	Abnormality of skin morphology	2138	EYA1	ORPHA:52429
HP:0011121	Abnormality of skin morphology	6495	SIX1	OMIM:113650
HP:0011121	Abnormality of skin morphology	6495	SIX1	ORPHA:107
HP:0011121	Abnormality of skin morphology	6495	SIX1	ORPHA:52429
HP:0011121	Abnormality of skin morphology	6495	SIX1	OMIM:608389
HP:0011121	Abnormality of skin morphology	2132	EXT2	OMIM:616682
HP:0011121	Abnormality of skin morphology	2335	FN1	ORPHA:93315
HP:0011121	Abnormality of skin morphology	2972	BRF1	OMIM:616202
HP:0011121	Abnormality of skin morphology	145173	B3GLCT	ORPHA:709
HP:0011121	Abnormality of skin morphology	10992	SF3B2	OMIM:164210
HP:0011121	Abnormality of skin morphology	6299	SALL1	OMIM:107480
HP:0011121	Abnormality of skin morphology	6299	SALL1	ORPHA:857
HP:0011121	Abnormality of skin morphology	374654	KIF7	OMIM:200990
HP:0011121	Abnormality of skin morphology	89910	UBE3B	OMIM:244450
HP:0011121	Abnormality of skin morphology	89910	UBE3B	ORPHA:2707
HP:0011121	Abnormality of skin morphology	8085	KMT2D	ORPHA:2322
HP:0011121	Abnormality of skin morphology	4953	ODC1	ORPHA:544488
HP:0011121	Abnormality of skin morphology	9723	SEMA3E	ORPHA:138
HP:0011121	Abnormality of skin morphology	10735	STAG2	OMIM:301022
HP:0011121	Abnormality of skin morphology	57492	ARID1B	OMIM:135900
HP:0011121	Abnormality of skin morphology	10265	IRX5	OMIM:611174
HP:0011121	Abnormality of skin morphology	23389	MED13L	ORPHA:369891
HP:0011121	Abnormality of skin morphology	10943	MSL3	OMIM:301032
HP:0011121	Abnormality of skin morphology	1501	CTNND2	ORPHA:281
HP:0011121	Abnormality of skin morphology	9037	SEMA5A	ORPHA:281
HP:0011121	Abnormality of skin morphology	51729	WBP11	OMIM:619227
HP:0011121	Abnormality of skin morphology	147912	SIX5	OMIM:610896
HP:0011121	Abnormality of skin morphology	147912	SIX5	ORPHA:107
HP:0011121	Abnormality of skin morphology	1906	EDN1	ORPHA:137888
HP:0011121	Abnormality of skin morphology	5332	PLCB4	ORPHA:137888
HP:0011121	Abnormality of skin morphology	2773	GNAI3	ORPHA:137888
HP:0011121	Abnormality of skin morphology	2773	GNAI3	OMIM:602483
HP:0011121	Abnormality of skin morphology	53834	FGFRL1	OMIM:194190
HP:0011121	Abnormality of skin morphology	1487	CTBP1	OMIM:194190
HP:0011121	Abnormality of skin morphology	3954	LETM1	OMIM:194190
HP:0011121	Abnormality of skin morphology	7468	NSD2	OMIM:194190
HP:0011121	Abnormality of skin morphology	10815	CPLX1	OMIM:194190
HP:0011121	Abnormality of skin morphology	9343	EFTUD2	OMIM:610536
HP:0011121	Abnormality of skin morphology	9343	EFTUD2	ORPHA:79113
HP:0011121	Abnormality of skin morphology	3192	HNRNPU	ORPHA:238769
HP:0011121	Abnormality of skin morphology	157680	VPS13B	ORPHA:193
HP:0011121	Abnormality of skin morphology	8092	ALX1	ORPHA:306542
HP:0011121	Abnormality of skin morphology	94005	PIGS	OMIM:618143
HP:0011121	Abnormality of skin morphology	1909	EDNRA	OMIM:616367
HP:0011121	Abnormality of skin morphology	8364	H4C3	OMIM:619758
HP:0011121	Abnormality of skin morphology	10907	TXNL4A	OMIM:608572
HP:0011121	Abnormality of skin morphology	79759	ZNF668	OMIM:620194
HP:0011121	Abnormality of skin morphology	84172	POLR1B	ORPHA:861
HP:0011121	Abnormality of skin morphology	9533	POLR1C	ORPHA:861
HP:0011121	Abnormality of skin morphology	51082	POLR1D	ORPHA:861
HP:0011121	Abnormality of skin morphology	6949	TCOF1	ORPHA:861
HP:0011121	Abnormality of skin morphology	6949	TCOF1	OMIM:154500
HP:0011121	Abnormality of skin morphology	29123	ANKRD11	ORPHA:261250
HP:0011121	Abnormality of skin morphology	79971	WLS	OMIM:619648
HP:0011121	Abnormality of skin morphology	51339	DACT1	ORPHA:857
HP:0011121	Abnormality of skin morphology	54916	TMEM260	OMIM:617478
HP:0011121	Abnormality of skin morphology	374969	SVBP	OMIM:618569
HP:0011121	Abnormality of skin morphology	2317	FLNB	OMIM:272460
HP:0011121	Abnormality of skin morphology	9897	WASHC5	ORPHA:7
HP:0011121	Abnormality of skin morphology	28952	CCDC22	ORPHA:7
HP:0011121	Abnormality of skin morphology	2719	GPC3	OMIM:312870
HP:0011121	Abnormality of skin morphology	2239	GPC4	OMIM:312870
HP:0011121	Abnormality of skin morphology	3978	LIG1	OMIM:619774
HP:0011121	Abnormality of skin morphology	5648	MASP1	OMIM:257920
HP:0011121	Abnormality of skin morphology	23064	SETX	OMIM:606002
HP:0011121	Abnormality of skin morphology	5190	PEX6	ORPHA:95433
HP:0011121	Abnormality of skin morphology	5476	CTSA	OMIM:256540
HP:0011121	Abnormality of skin morphology	1009	CDH11	ORPHA:1299
HP:0011121	Abnormality of skin morphology	229	ALDOB	OMIM:229600
HP:0011121	Abnormality of skin morphology	229	ALDOB	ORPHA:469
HP:0011121	Abnormality of skin morphology	55532	SLC30A10	ORPHA:309854
HP:0011121	Abnormality of skin morphology	80270	HSD3B7	ORPHA:79301
HP:0011121	Abnormality of skin morphology	80270	HSD3B7	OMIM:607765
HP:0011121	Abnormality of skin morphology	5314	PKHD1	ORPHA:53035
HP:0011121	Abnormality of skin morphology	5314	PKHD1	ORPHA:731
HP:0011121	Abnormality of skin morphology	9420	CYP7B1	ORPHA:79302
HP:0011121	Abnormality of skin morphology	9420	CYP7B1	OMIM:613812
HP:0011121	Abnormality of skin morphology	84936	ZFYVE19	OMIM:619849
HP:0011121	Abnormality of skin morphology	55687	TRMU	OMIM:613070
HP:0011121	Abnormality of skin morphology	60561	RINT1	OMIM:618641
HP:0011121	Abnormality of skin morphology	11232	POLG2	OMIM:618528
HP:0011121	Abnormality of skin morphology	1716	DGUOK	OMIM:251880
HP:0011121	Abnormality of skin morphology	5244	ABCB4	OMIM:614972
HP:0011121	Abnormality of skin morphology	5244	ABCB4	OMIM:602347
HP:0011121	Abnormality of skin morphology	5244	ABCB4	ORPHA:69665
HP:0011121	Abnormality of skin morphology	5244	ABCB4	OMIM:600803
HP:0011121	Abnormality of skin morphology	63894	VIPAS39	OMIM:613404
HP:0011121	Abnormality of skin morphology	4645	MYO5B	OMIM:619868
HP:0011121	Abnormality of skin morphology	2313	FLI1	ORPHA:370348
HP:0011121	Abnormality of skin morphology	1244	ABCC2	ORPHA:234
HP:0011121	Abnormality of skin morphology	1244	ABCC2	OMIM:237500
HP:0011121	Abnormality of skin morphology	5311	PKD2	OMIM:613095
HP:0011121	Abnormality of skin morphology	10068	IL18BP	OMIM:618549
HP:0011121	Abnormality of skin morphology	5265	SERPINA1	ORPHA:60
HP:0011121	Abnormality of skin morphology	5428	POLG	OMIM:203700
HP:0011121	Abnormality of skin morphology	9971	NR1H4	ORPHA:69665
HP:0011121	Abnormality of skin morphology	9971	NR1H4	OMIM:617049
HP:0011121	Abnormality of skin morphology	55670	PEX26	OMIM:614872
HP:0011121	Abnormality of skin morphology	55670	PEX26	ORPHA:912
HP:0011121	Abnormality of skin morphology	10165	SLC25A13	ORPHA:247598
HP:0011121	Abnormality of skin morphology	9409	PEX16	OMIM:614876
HP:0011121	Abnormality of skin morphology	9409	PEX16	ORPHA:912
HP:0011121	Abnormality of skin morphology	2729	GCLC	ORPHA:33574
HP:0011121	Abnormality of skin morphology	11330	CTRC	ORPHA:103918
HP:0011121	Abnormality of skin morphology	11330	CTRC	ORPHA:676
HP:0011121	Abnormality of skin morphology	6690	SPINK1	ORPHA:103918
HP:0011121	Abnormality of skin morphology	6690	SPINK1	ORPHA:676
HP:0011121	Abnormality of skin morphology	5213	PFKM	OMIM:232800
HP:0011121	Abnormality of skin morphology	54532	USP53	OMIM:619658
HP:0011121	Abnormality of skin morphology	5195	PEX14	OMIM:614887
HP:0011121	Abnormality of skin morphology	5195	PEX14	ORPHA:912
HP:0011121	Abnormality of skin morphology	29929	ALG6	ORPHA:79320
HP:0011121	Abnormality of skin morphology	5825	ABCD3	OMIM:616278
HP:0011121	Abnormality of skin morphology	113220	KIF12	OMIM:619662
HP:0011121	Abnormality of skin morphology	27429	HTRA2	OMIM:617248
HP:0011121	Abnormality of skin morphology	5824	PEX19	ORPHA:912
HP:0011121	Abnormality of skin morphology	8504	PEX3	ORPHA:912
HP:0011121	Abnormality of skin morphology	5194	PEX13	ORPHA:912
HP:0011121	Abnormality of skin morphology	6006	RHCE	ORPHA:71275
HP:0011121	Abnormality of skin morphology	6007	RHD	ORPHA:71275
HP:0011121	Abnormality of skin morphology	763	CA5A	OMIM:615751
HP:0011121	Abnormality of skin morphology	3875	KRT18	OMIM:215600
HP:0011121	Abnormality of skin morphology	5774	PTPN3	ORPHA:70567
HP:0011121	Abnormality of skin morphology	5172	SLC26A4	ORPHA:95720
HP:0011121	Abnormality of skin morphology	2592	GALT	ORPHA:79239
HP:0011121	Abnormality of skin morphology	51473	DCDC2	OMIM:617394
HP:0011121	Abnormality of skin morphology	51218	GLRX5	OMIM:616860
HP:0011121	Abnormality of skin morphology	2821	GPI	OMIM:613470
HP:0011121	Abnormality of skin morphology	50619	DEF6	OMIM:619573
HP:0011121	Abnormality of skin morphology	7019	TFAM	OMIM:617156
HP:0011121	Abnormality of skin morphology	3431	SP110	ORPHA:79124
HP:0011121	Abnormality of skin morphology	7289	TULP3	OMIM:619902
HP:0011121	Abnormality of skin morphology	285282	RABL3	ORPHA:1333
HP:0011121	Abnormality of skin morphology	23022	PALLD	ORPHA:1333
HP:0011121	Abnormality of skin morphology	84701	COX4I2	OMIM:612714
HP:0011121	Abnormality of skin morphology	5644	PRSS1	ORPHA:676
HP:0011121	Abnormality of skin morphology	5645	PRSS2	ORPHA:676
HP:0011121	Abnormality of skin morphology	1357	CPA1	ORPHA:676
HP:0011121	Abnormality of skin morphology	570	BAAT	OMIM:619232
HP:0011121	Abnormality of skin morphology	6928	HNF1B	ORPHA:93111
HP:0011121	Abnormality of skin morphology	286410	ATP11C	OMIM:301015
HP:0011121	Abnormality of skin morphology	51124	IER3IP1	OMIM:614231
HP:0011121	Abnormality of skin morphology	226	ALDOA	OMIM:611881
HP:0011121	Abnormality of skin morphology	100506658	OCLN	OMIM:251290
HP:0011121	Abnormality of skin morphology	199221	DZIP1L	ORPHA:731
HP:0011121	Abnormality of skin morphology	2215	FCGR3B	ORPHA:464370
HP:0011121	Abnormality of skin morphology	25974	MMACHC	ORPHA:79282
HP:0011121	Abnormality of skin morphology	37	ACADVL	ORPHA:26793
HP:0011121	Abnormality of skin morphology	2108	ETFA	OMIM:231680
HP:0011121	Abnormality of skin morphology	2109	ETFB	OMIM:231680
HP:0011121	Abnormality of skin morphology	2110	ETFDH	OMIM:231680
HP:0011121	Abnormality of skin morphology	3988	LIPA	ORPHA:75234
HP:0011121	Abnormality of skin morphology	2582	GALE	OMIM:230350
HP:0011121	Abnormality of skin morphology	128	ADH5	OMIM:619151
HP:0011121	Abnormality of skin morphology	4173	MCM4	OMIM:609981
HP:0011121	Abnormality of skin morphology	1584	CYP11B1	OMIM:202010
HP:0011121	Abnormality of skin morphology	1584	CYP11B1	ORPHA:90795
HP:0011121	Abnormality of skin morphology	3284	HSD3B2	ORPHA:90791
HP:0011121	Abnormality of skin morphology	8879	SGPL1	OMIM:617575
HP:0011121	Abnormality of skin morphology	5293	PIK3CD	ORPHA:221139
HP:0011121	Abnormality of skin morphology	90417	KNSTRN	ORPHA:221139
HP:0011121	Abnormality of skin morphology	80025	PANK2	OMIM:234200
HP:0011121	Abnormality of skin morphology	190	NR0B1	OMIM:300200
HP:0011121	Abnormality of skin morphology	3718	JAK3	ORPHA:35078
HP:0011121	Abnormality of skin morphology	654	BMP6	ORPHA:465508
HP:0011121	Abnormality of skin morphology	55367	PIDD1	OMIM:619827
HP:0011121	Abnormality of skin morphology	23394	ADNP	ORPHA:404448
HP:0011121	Abnormality of skin morphology	51126	NAA20	OMIM:619717
HP:0011121	Abnormality of skin morphology	6228	RPS23	OMIM:617412
HP:0011121	Abnormality of skin morphology	5885	RAD21	OMIM:614701
HP:0011121	Abnormality of skin morphology	55627	SMPD4	OMIM:618622
HP:0011121	Abnormality of skin morphology	123263	MTFMT	OMIM:614947
HP:0011121	Abnormality of skin morphology	10274	STAG1	ORPHA:502434
HP:0011121	Abnormality of skin morphology	5830	PEX5	OMIM:214110
HP:0011121	Abnormality of skin morphology	9578	CDC42BPB	OMIM:619841
HP:0011121	Abnormality of skin morphology	3020	H3-3A	OMIM:619720
HP:0011121	Abnormality of skin morphology	10300	KATNB1	OMIM:616212
HP:0011121	Abnormality of skin morphology	51506	UFC1	OMIM:618076
HP:0011121	Abnormality of skin morphology	55790	CSGALNACT1	OMIM:618870
HP:0011121	Abnormality of skin morphology	2137	EXTL3	OMIM:617425
HP:0011121	Abnormality of skin morphology	22858	CILK1	OMIM:612651
HP:0011121	Abnormality of skin morphology	9382	COG1	OMIM:611209
HP:0011121	Abnormality of skin morphology	84987	COX14	OMIM:619053
HP:0011121	Abnormality of skin morphology	3899	AFF3	OMIM:619297
HP:0011121	Abnormality of skin morphology	652	BMP4	OMIM:607932
HP:0011121	Abnormality of skin morphology	5442	POLRMT	OMIM:619743
HP:0011121	Abnormality of skin morphology	132158	GLYCTK	OMIM:220120
HP:0011121	Abnormality of skin morphology	23036	ZNF292	OMIM:619188
HP:0011121	Abnormality of skin morphology	55148	UBR7	OMIM:619189
HP:0011121	Abnormality of skin morphology	727857	BHLHA9	OMIM:609432
HP:0011121	Abnormality of skin morphology	1802	DPH2	OMIM:620062
HP:0011121	Abnormality of skin morphology	55768	NGLY1	OMIM:615273
HP:0011121	Abnormality of skin morphology	5828	PEX2	OMIM:614866
HP:0011121	Abnormality of skin morphology	150468	CKAP2L	OMIM:272440
HP:0011121	Abnormality of skin morphology	6134	RPL10	ORPHA:459070
HP:0011121	Abnormality of skin morphology	6134	RPL10	OMIM:300998
HP:0011121	Abnormality of skin morphology	6134	RPL10	ORPHA:435938
HP:0011121	Abnormality of skin morphology	23137	SMC5	OMIM:620185
HP:0011121	Abnormality of skin morphology	7750	ZMYM2	OMIM:619522
HP:0011121	Abnormality of skin morphology	10430	TMEM147	OMIM:620075
HP:0011121	Abnormality of skin morphology	23483	TGDS	OMIM:616145
HP:0011121	Abnormality of skin morphology	25836	NIPBL	OMIM:122470
HP:0011121	Abnormality of skin morphology	51322	WAC	ORPHA:466950
HP:0011121	Abnormality of skin morphology	4208	MEF2C	OMIM:613443
HP:0011121	Abnormality of skin morphology	55690	PACS1	ORPHA:329224
HP:0011121	Abnormality of skin morphology	6878	TAF6	OMIM:617126
HP:0011121	Abnormality of skin morphology	81603	TRIM8	OMIM:619428
HP:0011121	Abnormality of skin morphology	9230	RAB11B	OMIM:617807
HP:0011121	Abnormality of skin morphology	55081	IFT57	OMIM:617927
HP:0011121	Abnormality of skin morphology	3720	JARID2	OMIM:620098
HP:0011121	Abnormality of skin morphology	5193	PEX12	OMIM:266510
HP:0011121	Abnormality of skin morphology	57122	NUP107	OMIM:618348
HP:0011121	Abnormality of skin morphology	5515	PPP2CA	OMIM:618354
HP:0011121	Abnormality of skin morphology	23030	KDM4B	OMIM:619320
HP:0011121	Abnormality of skin morphology	2902	GRIN1	OMIM:617820
HP:0011121	Abnormality of skin morphology	23097	CDK19	OMIM:618916
HP:0011121	Abnormality of skin morphology	4131	MAP1B	OMIM:618918
HP:0011121	Abnormality of skin morphology	5530	PPP3CA	OMIM:617711
HP:0011121	Abnormality of skin morphology	80746	TSEN2	OMIM:612389
HP:0011121	Abnormality of skin morphology	9361	LONP1	ORPHA:79243
HP:0011121	Abnormality of skin morphology	5160	PDHA1	ORPHA:79243
HP:0011121	Abnormality of skin morphology	55764	IFT122	OMIM:218330
HP:0011121	Abnormality of skin morphology	8604	SLC25A12	OMIM:612949
HP:0011121	Abnormality of skin morphology	9241	NOG	OMIM:186500
HP:0011121	Abnormality of skin morphology	57187	THOC2	ORPHA:457240
HP:0011121	Abnormality of skin morphology	6938	TCF12	OMIM:615314
HP:0011121	Abnormality of skin morphology	92002	CCNQ	OMIM:300707
HP:0011121	Abnormality of skin morphology	91461	PKDCC	OMIM:618821
HP:0011121	Abnormality of skin morphology	4329	ALDH6A1	OMIM:614105
HP:0011121	Abnormality of skin morphology	1457	CSNK2A1	OMIM:617062
HP:0011121	Abnormality of skin morphology	7204	TRIO	OMIM:617061
HP:0011121	Abnormality of skin morphology	51305	KCNK9	OMIM:612292
HP:0011121	Abnormality of skin morphology	83737	ITCH	OMIM:613385
HP:0011121	Abnormality of skin morphology	64093	SMOC1	OMIM:206920
HP:0011121	Abnormality of skin morphology	7169	TPM2	OMIM:108120
HP:0011121	Abnormality of skin morphology	8200	GDF5	OMIM:201250
HP:0011121	Abnormality of skin morphology	1748	DLX4	OMIM:616788
HP:0011121	Abnormality of skin morphology	2733	GLE1	OMIM:611890
HP:0011121	Abnormality of skin morphology	738	VPS51	OMIM:618606
HP:0011121	Abnormality of skin morphology	23299	BICD2	OMIM:618291
HP:0011121	Abnormality of skin morphology	8462	KLF11	ORPHA:552
HP:0011121	Abnormality of skin morphology	2645	GCK	ORPHA:552
HP:0011121	Abnormality of skin morphology	26060	APPL1	ORPHA:552
HP:0011121	Abnormality of skin morphology	640	BLK	ORPHA:552
HP:0011121	Abnormality of skin morphology	1056	CEL	ORPHA:552
HP:0011121	Abnormality of skin morphology	4760	NEUROD1	ORPHA:552
HP:0011121	Abnormality of skin morphology	3651	PDX1	ORPHA:552
HP:0011121	Abnormality of skin morphology	5078	PAX4	ORPHA:552
HP:0011121	Abnormality of skin morphology	3630	INS	ORPHA:552
HP:0011121	Abnormality of skin morphology	4160	MC4R	ORPHA:71529
HP:0011121	Abnormality of skin morphology	3290	HSD11B1	OMIM:614662
HP:0011121	Abnormality of skin morphology	63924	CIDEC	OMIM:615238
HP:0011121	Abnormality of skin morphology	63924	CIDEC	ORPHA:435651
HP:0011121	Abnormality of skin morphology	2099	ESR1	ORPHA:785
HP:0011121	Abnormality of skin morphology	2099	ESR1	OMIM:615363
HP:0011121	Abnormality of skin morphology	27125	AFF4	ORPHA:444077
HP:0011121	Abnormality of skin morphology	5346	PLIN1	ORPHA:280356
HP:0011121	Abnormality of skin morphology	5346	PLIN1	OMIM:613877
HP:0011121	Abnormality of skin morphology	5692	PSMB4	OMIM:617591
HP:0011121	Abnormality of skin morphology	5698	PSMB9	OMIM:617591
HP:0011121	Abnormality of skin morphology	208	AKT2	ORPHA:79085
HP:0011121	Abnormality of skin morphology	1588	CYP19A1	ORPHA:91
HP:0011121	Abnormality of skin morphology	3479	IGF1	ORPHA:73272
HP:0011121	Abnormality of skin morphology	6548	SLC9A1	OMIM:616291
HP:0011121	Abnormality of skin morphology	7156	TOP3A	OMIM:618097
HP:0011121	Abnormality of skin morphology	4771	NF2	OMIM:101000
HP:0011121	Abnormality of skin morphology	10283	CWC27	OMIM:250410
HP:0011121	Abnormality of skin morphology	10283	CWC27	ORPHA:166035
HP:0011121	Abnormality of skin morphology	8936	WASF1	OMIM:618707
HP:0011121	Abnormality of skin morphology	5324	PLAG1	ORPHA:397590
HP:0011121	Abnormality of skin morphology	55023	PHIP	OMIM:617991
HP:0011121	Abnormality of skin morphology	55023	PHIP	ORPHA:589905
HP:0011121	Abnormality of skin morphology	157570	ESCO2	OMIM:268300
HP:0011121	Abnormality of skin morphology	22907	DHX30	OMIM:617804
HP:0011121	Abnormality of skin morphology	7849	PAX8	OMIM:218700
HP:0011121	Abnormality of skin morphology	9071	CLDN10	OMIM:617671
HP:0011121	Abnormality of skin morphology	816	CAMK2B	OMIM:617799
HP:0011121	Abnormality of skin morphology	55012	PPP2R3C	OMIM:618419
HP:0011121	Abnormality of skin morphology	253959	RALGAPA1	OMIM:618797
HP:0011121	Abnormality of skin morphology	5587	PRKD1	OMIM:617364
HP:0011121	Abnormality of skin morphology	55770	EXOC2	OMIM:619306
HP:0011121	Abnormality of skin morphology	4792	NFKBIA	OMIM:612132
HP:0011121	Abnormality of skin morphology	7200	TRH	OMIM:275120
HP:0011121	Abnormality of skin morphology	9837	GINS1	OMIM:617827
HP:0011121	Abnormality of skin morphology	7067	THRA	OMIM:614450
HP:0011121	Abnormality of skin morphology	6304	SATB1	OMIM:619229
HP:0011121	Abnormality of skin morphology	440138	ALG11	ORPHA:280071
HP:0011121	Abnormality of skin morphology	91875	TTC5	OMIM:619244
HP:0011121	Abnormality of skin morphology	84905	ZNF341	OMIM:618282
HP:0011121	Abnormality of skin morphology	5264	PHYH	ORPHA:773
HP:0011121	Abnormality of skin morphology	5191	PEX7	ORPHA:773
HP:0011121	Abnormality of skin morphology	7480	WNT10B	OMIM:617073
HP:0011121	Abnormality of skin morphology	1650	DDOST	ORPHA:300536
HP:0011121	Abnormality of skin morphology	8799	PEX11B	OMIM:614920
HP:0011121	Abnormality of skin morphology	55181	SMG8	OMIM:619268
HP:0011121	Abnormality of skin morphology	8942	KYNU	ORPHA:79155
HP:0011121	Abnormality of skin morphology	128674	PROKR2	ORPHA:3157
HP:0011121	Abnormality of skin morphology	6657	SOX2	ORPHA:3157
HP:0011121	Abnormality of skin morphology	6658	SOX3	ORPHA:3157
HP:0011121	Abnormality of skin morphology	9915	ARNT2	ORPHA:3157
HP:0011121	Abnormality of skin morphology	5015	OTX2	ORPHA:3157
HP:0011121	Abnormality of skin morphology	54892	NCAPG2	OMIM:618460
HP:0011121	Abnormality of skin morphology	1859	DYRK1A	ORPHA:268261
HP:0011121	Abnormality of skin morphology	6650	CAPN15	OMIM:619318
HP:0011121	Abnormality of skin morphology	85358	SHANK3	OMIM:606232
HP:0011121	Abnormality of skin morphology	85358	SHANK3	ORPHA:48652
HP:0011121	Abnormality of skin morphology	57216	VANGL2	OMIM:182940
HP:0011121	Abnormality of skin morphology	6347	CCL2	OMIM:182940
HP:0011121	Abnormality of skin morphology	6862	TBXT	OMIM:182940
HP:0011121	Abnormality of skin morphology	79783	SUGCT	ORPHA:35706
HP:0011121	Abnormality of skin morphology	91179	SCARF2	OMIM:600920
HP:0011121	Abnormality of skin morphology	55209	SETD5	OMIM:615761
HP:0011121	Abnormality of skin morphology	1725	DHPS	OMIM:618480
HP:0011121	Abnormality of skin morphology	10584	COLEC10	OMIM:248340
HP:0011121	Abnormality of skin morphology	818	CAMK2G	OMIM:618522
HP:0011121	Abnormality of skin morphology	80776	B9D2	OMIM:614175
HP:0011121	Abnormality of skin morphology	79633	FAT4	OMIM:615546
HP:0011121	Abnormality of skin morphology	8642	DCHS1	OMIM:601390
HP:0011121	Abnormality of skin morphology	10522	DEAF1	OMIM:615828
HP:0011121	Abnormality of skin morphology	56006	SMG9	OMIM:619995
HP:0011121	Abnormality of skin morphology	51633	OTUD6B	OMIM:617452
HP:0011121	Abnormality of skin morphology	51633	OTUD6B	ORPHA:505237
HP:0011121	Abnormality of skin morphology	1857	DVL3	ORPHA:3107
HP:0011121	Abnormality of skin morphology	1857	DVL3	OMIM:616894
HP:0011121	Abnormality of skin morphology	2535	FZD2	ORPHA:3107
HP:0011121	Abnormality of skin morphology	54499	TMCO1	OMIM:213980
HP:0011121	Abnormality of skin morphology	3090	HIC1	ORPHA:531
HP:0011121	Abnormality of skin morphology	5048	PAFAH1B1	ORPHA:531
HP:0011121	Abnormality of skin morphology	7531	YWHAE	ORPHA:531
HP:0011121	Abnormality of skin morphology	4123	MAN2C1	OMIM:619775
HP:0011121	Abnormality of skin morphology	5718	PSMD12	OMIM:617516
HP:0011121	Abnormality of skin morphology	55191	NADSYN1	OMIM:618845
HP:0011121	Abnormality of skin morphology	51422	PRKAG2	OMIM:261740
HP:0011121	Abnormality of skin morphology	5250	SLC25A3	ORPHA:91130
HP:0011121	Abnormality of skin morphology	5250	SLC25A3	OMIM:610773
HP:0011121	Abnormality of skin morphology	6334	SCN8A	ORPHA:306
HP:0011121	Abnormality of skin morphology	112476	PRRT2	ORPHA:306
HP:0011121	Abnormality of skin morphology	3786	KCNQ3	ORPHA:306
HP:0011121	Abnormality of skin morphology	6440	SFTPC	OMIM:610913
HP:0011121	Abnormality of skin morphology	6440	SFTPC	ORPHA:70587
HP:0011121	Abnormality of skin morphology	6439	SFTPB	OMIM:265120
HP:0011121	Abnormality of skin morphology	6439	SFTPB	ORPHA:70587
HP:0011121	Abnormality of skin morphology	7547	ZIC3	OMIM:306955
HP:0011121	Abnormality of skin morphology	5105	PCK1	OMIM:261680
HP:0011121	Abnormality of skin morphology	21	ABCA3	OMIM:610921
HP:0011121	Abnormality of skin morphology	21	ABCA3	ORPHA:70587
HP:0011121	Abnormality of skin morphology	118856	MMP21	OMIM:616749
HP:0011121	Abnormality of skin morphology	1528	CYB5A	OMIM:250790
HP:0011121	Abnormality of skin morphology	1528	CYB5A	ORPHA:621
HP:0011121	Abnormality of skin morphology	2898	GRIK2	OMIM:619580
HP:0011121	Abnormality of skin morphology	788	SLC25A20	ORPHA:159
HP:0011121	Abnormality of skin morphology	7092	TLL1	ORPHA:99106
HP:0011121	Abnormality of skin morphology	7092	TLL1	ORPHA:99103
HP:0011121	Abnormality of skin morphology	3028	HSD17B10	ORPHA:391428
HP:0011121	Abnormality of skin morphology	5337	PLD1	OMIM:212093
HP:0011121	Abnormality of skin morphology	57057	TBX20	ORPHA:99103
HP:0011121	Abnormality of skin morphology	1727	CYB5R3	OMIM:250800
HP:0011121	Abnormality of skin morphology	1727	CYB5R3	ORPHA:621
HP:0011121	Abnormality of skin morphology	8021	NUP214	OMIM:618426
HP:0011121	Abnormality of skin morphology	79770	TXNDC15	OMIM:619879
HP:0011121	Abnormality of skin morphology	60482	SLC5A7	ORPHA:98914
HP:0011121	Abnormality of skin morphology	4649	MYO9A	ORPHA:98914
HP:0011121	Abnormality of skin morphology	1305	COL13A1	ORPHA:98914
HP:0011121	Abnormality of skin morphology	1305	COL13A1	ORPHA:98913
HP:0011121	Abnormality of skin morphology	1103	CHAT	ORPHA:98914
HP:0011121	Abnormality of skin morphology	6576	SLC25A1	ORPHA:98914
HP:0011121	Abnormality of skin morphology	6843	VAMP1	ORPHA:98914
HP:0011121	Abnormality of skin morphology	375790	AGRN	ORPHA:98914
HP:0011121	Abnormality of skin morphology	375790	AGRN	ORPHA:98913
HP:0011121	Abnormality of skin morphology	127833	SYT2	ORPHA:98914
HP:0011121	Abnormality of skin morphology	6616	SNAP25	ORPHA:98914
HP:0011121	Abnormality of skin morphology	6329	SCN4A	ORPHA:98913
HP:0011121	Abnormality of skin morphology	1140	CHRNB1	ORPHA:98913
HP:0011121	Abnormality of skin morphology	1145	CHRNE	ORPHA:98913
HP:0011121	Abnormality of skin morphology	221264	AK9	ORPHA:98913
HP:0011121	Abnormality of skin morphology	4724	NDUFS4	OMIM:252010
HP:0011121	Abnormality of skin morphology	10568	SLC34A2	ORPHA:60025
HP:0011121	Abnormality of skin morphology	80199	FUZ	ORPHA:1136
HP:0011121	Abnormality of skin morphology	84705	GTPBP3	ORPHA:444013
HP:0011121	Abnormality of skin morphology	23586	RIGI	OMIM:616298
HP:0011121	Abnormality of skin morphology	10013	HDAC6	ORPHA:163966
HP:0011121	Abnormality of skin morphology	57609	DIP2B	OMIM:136630
HP:0011121	Abnormality of skin morphology	29969	MDFIC	OMIM:620014
HP:0011121	Abnormality of skin morphology	2332	FMR1	ORPHA:449291
HP:0011121	Abnormality of skin morphology	4998	ORC1	OMIM:224690
HP:0011121	Abnormality of skin morphology	10616	RBCK1	OMIM:615895
HP:0011121	Abnormality of skin morphology	23314	SATB2	OMIM:612313
HP:0011121	Abnormality of skin morphology	375	ARF1	ORPHA:98892
HP:0011121	Abnormality of skin morphology	23327	NEDD4L	ORPHA:98892
HP:0011121	Abnormality of skin morphology	160418	TMTC3	ORPHA:98892
HP:0011121	Abnormality of skin morphology	10564	ARFGEF2	ORPHA:98892
HP:0011121	Abnormality of skin morphology	55780	ERMARD	ORPHA:98892
HP:0011121	Abnormality of skin morphology	23476	BRD4	ORPHA:199
HP:0011121	Abnormality of skin morphology	8243	SMC1A	ORPHA:199
HP:0011121	Abnormality of skin morphology	8243	SMC1A	OMIM:300590
HP:0011121	Abnormality of skin morphology	55869	HDAC8	ORPHA:199
HP:0011121	Abnormality of skin morphology	55869	HDAC8	OMIM:300882
HP:0011121	Abnormality of skin morphology	2982	GUCY1A1	OMIM:615750
HP:0011121	Abnormality of skin morphology	2982	GUCY1A1	ORPHA:401945
HP:0011121	Abnormality of skin morphology	4774	NFIA	OMIM:613735
HP:0011121	Abnormality of skin morphology	4774	NFIA	ORPHA:401986
HP:0011121	Abnormality of skin morphology	55027	HEATR3	OMIM:620072
HP:0011121	Abnormality of skin morphology	79068	FTO	OMIM:612938
HP:0011121	Abnormality of skin morphology	5422	POLA1	OMIM:301220
HP:0011121	Abnormality of skin morphology	54809	SAMD9	OMIM:617053
HP:0011121	Abnormality of skin morphology	2533	FYB1	OMIM:273900
HP:0011121	Abnormality of skin morphology	3937	LCP2	OMIM:619374
HP:0011121	Abnormality of skin morphology	11274	USP18	OMIM:617397
HP:0011121	Abnormality of skin morphology	55340	GIMAP5	OMIM:619463
HP:0011121	Abnormality of skin morphology	64858	DCLRE1B	OMIM:620133
HP:0011121	Abnormality of skin morphology	8313	AXIN2	ORPHA:401911
HP:0011121	Abnormality of skin morphology	83999	KREMEN1	OMIM:617392
HP:0011121	Abnormality of skin morphology	2121	EVC	OMIM:225500
HP:0011121	Abnormality of skin morphology	132884	EVC2	OMIM:225500
HP:0011121	Abnormality of skin morphology	3229	HOXC13	OMIM:614931
HP:0011121	Abnormality of skin morphology	57511	COG6	ORPHA:363523
HP:0011121	Abnormality of skin morphology	57511	COG6	OMIM:615328
HP:0011121	Abnormality of skin morphology	10159	ATP6AP2	OMIM:301045
HP:0011121	Abnormality of skin morphology	57539	WDR35	OMIM:613610
HP:0011121	Abnormality of skin morphology	10653	SPINT2	OMIM:270420
HP:0011121	Abnormality of skin morphology	10225	CD96	OMIM:211750
HP:0011121	Abnormality of skin morphology	16	AARS1	OMIM:619691
HP:0011121	Abnormality of skin morphology	64919	BCL11B	OMIM:617237
HP:0011121	Abnormality of skin morphology	51594	NBAS	OMIM:614800
HP:0011121	Abnormality of skin morphology	9742	IFT140	OMIM:266920
HP:0011121	Abnormality of skin morphology	112752	IFT43	OMIM:614099
HP:0011121	Abnormality of skin morphology	25871	NEPRO	OMIM:618853
HP:0011121	Abnormality of skin morphology	1954	MEGF8	OMIM:614976
HP:0011121	Abnormality of skin morphology	7528	YY1	ORPHA:506358
HP:0011121	Abnormality of skin morphology	10000	AKT3	OMIM:615937
HP:0011121	Abnormality of skin morphology	9056	SLC7A7	OMIM:222700
HP:0011121	Abnormality of skin morphology	23233	EXOC6B	ORPHA:93359
HP:0011121	Abnormality of skin morphology	79813	EHMT1	ORPHA:261652
HP:0011121	Abnormality of skin morphology	58508	KMT2C	ORPHA:261652
HP:0011121	Abnormality of skin morphology	6603	SMARCD2	OMIM:617475
HP:0011121	Abnormality of skin morphology	9469	CHST3	OMIM:245600
HP:0011121	Abnormality of skin morphology	26229	B3GAT3	OMIM:245600
HP:0011121	Abnormality of skin morphology	2245	FGD1	ORPHA:915
HP:0011121	Abnormality of skin morphology	9091	PIGQ	OMIM:618548
HP:0011121	Abnormality of skin morphology	6678	SPARC	OMIM:616507
HP:0011121	Abnormality of skin morphology	5076	PAX2	OMIM:120330
HP:0011121	Abnormality of skin morphology	4125	MAN2B1	ORPHA:309282
HP:0011121	Abnormality of skin morphology	25	ABL1	OMIM:617602
HP:0011121	Abnormality of skin morphology	2243	FGA	OMIM:202400
HP:0011121	Abnormality of skin morphology	2244	FGB	OMIM:202400
HP:0011121	Abnormality of skin morphology	2266	FGG	OMIM:202400
HP:0011121	Abnormality of skin morphology	54453	RIN2	ORPHA:217335
HP:0011121	Abnormality of skin morphology	54453	RIN2	OMIM:613075
HP:0011121	Abnormality of skin morphology	2120	ETV6	OMIM:616216
HP:0011121	Abnormality of skin morphology	10235	RASGRP2	OMIM:615888
HP:0011121	Abnormality of skin morphology	23218	NBEAL2	OMIM:139090
HP:0011121	Abnormality of skin morphology	23218	NBEAL2	ORPHA:721
HP:0011121	Abnormality of skin morphology	51206	GP6	OMIM:614201
HP:0011121	Abnormality of skin morphology	90993	CREB3L1	OMIM:616229
HP:0011121	Abnormality of skin morphology	2155	F7	ORPHA:327
HP:0011121	Abnormality of skin morphology	2155	F7	OMIM:227500
HP:0011121	Abnormality of skin morphology	4627	MYH9	OMIM:155100
HP:0011121	Abnormality of skin morphology	4627	MYH9	ORPHA:182050
HP:0011121	Abnormality of skin morphology	22852	ANKRD26	OMIM:188000
HP:0011121	Abnormality of skin morphology	11107	PRDM5	OMIM:614170
HP:0011121	Abnormality of skin morphology	11107	PRDM5	ORPHA:90354
HP:0011121	Abnormality of skin morphology	5328	PLAU	OMIM:601709
HP:0011121	Abnormality of skin morphology	342618	SLFN14	OMIM:616913
HP:0011121	Abnormality of skin morphology	540	ATP7B	ORPHA:905
HP:0011121	Abnormality of skin morphology	64805	P2RY12	OMIM:609821
HP:0011121	Abnormality of skin morphology	5345	SERPINF2	ORPHA:79
HP:0011121	Abnormality of skin morphology	5345	SERPINF2	OMIM:262850
HP:0011121	Abnormality of skin morphology	3998	LMAN1	ORPHA:35909
HP:0011121	Abnormality of skin morphology	90411	MCFD2	ORPHA:35909
HP:0011121	Abnormality of skin morphology	200931	SLC51A	OMIM:619484
HP:0011121	Abnormality of skin morphology	23387	SIK3	OMIM:618162
HP:0011121	Abnormality of skin morphology	11117	EMILIN1	OMIM:620080
HP:0011121	Abnormality of skin morphology	6915	TBXA2R	OMIM:614009
HP:0011121	Abnormality of skin morphology	2147	F2	OMIM:613679
HP:0011121	Abnormality of skin morphology	4629	MYH11	ORPHA:91387
HP:0011121	Abnormality of skin morphology	5592	PRKG1	ORPHA:91387
HP:0011121	Abnormality of skin morphology	2301	FOXE3	ORPHA:91387
HP:0011121	Abnormality of skin morphology	4144	MAT2A	ORPHA:91387
HP:0011121	Abnormality of skin morphology	23493	HEY2	ORPHA:91387
HP:0011121	Abnormality of skin morphology	8076	MFAP5	ORPHA:91387
HP:0011121	Abnormality of skin morphology	4638	MYLK	ORPHA:91387
HP:0011121	Abnormality of skin morphology	950	SCARB2	ORPHA:77259
HP:0011121	Abnormality of skin morphology	8328	GFI1B	OMIM:187900
HP:0011121	Abnormality of skin morphology	7450	VWF	OMIM:193400
HP:0011121	Abnormality of skin morphology	975	CD81	OMIM:613496
HP:0011121	Abnormality of skin morphology	975	CD81	ORPHA:1572
HP:0011121	Abnormality of skin morphology	7036	TFR2	OMIM:604250
HP:0011121	Abnormality of skin morphology	5551	PRF1	ORPHA:540
HP:0011121	Abnormality of skin morphology	8676	STX11	ORPHA:540
HP:0011121	Abnormality of skin morphology	201294	UNC13D	ORPHA:540
HP:0011121	Abnormality of skin morphology	6813	STXBP2	ORPHA:540
HP:0011121	Abnormality of skin morphology	9630	GNA14	ORPHA:1063
HP:0011121	Abnormality of skin morphology	9103	FCGR2C	ORPHA:3002
HP:0011121	Abnormality of skin morphology	84876	ORAI1	ORPHA:3204
HP:0011121	Abnormality of skin morphology	6786	STIM1	ORPHA:3204
HP:0011121	Abnormality of skin morphology	717	C2	OMIM:217000
HP:0011121	Abnormality of skin morphology	5371	PML	ORPHA:520
HP:0011121	Abnormality of skin morphology	5914	RARA	ORPHA:520
HP:0011121	Abnormality of skin morphology	359948	IRF2BP2	ORPHA:520
HP:0011121	Abnormality of skin morphology	359948	IRF2BP2	ORPHA:1572
HP:0011121	Abnormality of skin morphology	81608	FIP1L1	ORPHA:520
HP:0011121	Abnormality of skin morphology	64859	NABP1	ORPHA:520
HP:0011121	Abnormality of skin morphology	6777	STAT5B	ORPHA:520
HP:0011121	Abnormality of skin morphology	4926	NUMA1	ORPHA:520
HP:0011121	Abnormality of skin morphology	7704	ZBTB16	ORPHA:520
HP:0011121	Abnormality of skin morphology	23495	TNFRSF13B	ORPHA:1572
HP:0011121	Abnormality of skin morphology	115650	TNFRSF13C	ORPHA:1572
HP:0011121	Abnormality of skin morphology	1380	CR2	ORPHA:1572
HP:0011121	Abnormality of skin morphology	8742	TNFSF12	ORPHA:1572
HP:0011121	Abnormality of skin morphology	930	CD19	ORPHA:1572
HP:0011121	Abnormality of skin morphology	29851	ICOS	ORPHA:1572
HP:0011121	Abnormality of skin morphology	931	MS4A1	ORPHA:1572
HP:0011121	Abnormality of skin morphology	3207	HOXA11	OMIM:605432
HP:0011121	Abnormality of skin morphology	3078	CFHR1	OMIM:235400
HP:0011121	Abnormality of skin morphology	10878	CFHR3	OMIM:235400
HP:0011121	Abnormality of skin morphology	3155	HMGCL	ORPHA:20
HP:0011121	Abnormality of skin morphology	3155	HMGCL	OMIM:246450
HP:0011121	Abnormality of skin morphology	2562	GABRB3	ORPHA:64280
HP:0011121	Abnormality of skin morphology	8912	CACNA1H	ORPHA:64280
HP:0011121	Abnormality of skin morphology	8629	JRK	ORPHA:64280
HP:0011121	Abnormality of skin morphology	55240	STEAP3	OMIM:615234
HP:0011121	Abnormality of skin morphology	55240	STEAP3	ORPHA:300298
HP:0011121	Abnormality of skin morphology	84529	CDIN1	OMIM:615631
HP:0011121	Abnormality of skin morphology	55624	POMGNT1	OMIM:253280
HP:0011121	Abnormality of skin morphology	811	CALR	ORPHA:824
HP:0011121	Abnormality of skin morphology	811	CALR	OMIM:254450
HP:0011121	Abnormality of skin morphology	57679	ALS2	OMIM:606353
HP:0011121	Abnormality of skin morphology	113235	SLC46A1	ORPHA:90045
HP:0011121	Abnormality of skin morphology	23451	SF3B1	ORPHA:75564
HP:0011121	Abnormality of skin morphology	29887	SNX10	ORPHA:667
HP:0011121	Abnormality of skin morphology	8600	TNFSF11	ORPHA:667
HP:0011121	Abnormality of skin morphology	3073	HEXA	OMIM:272800
HP:0011121	Abnormality of skin morphology	9227	LRAT	OMIM:613341
HP:0011121	Abnormality of skin morphology	60509	AGBL5	OMIM:617023
HP:0011121	Abnormality of skin morphology	123016	TTC8	OMIM:613464
HP:0011121	Abnormality of skin morphology	10560	SLC19A2	ORPHA:49827
HP:0011121	Abnormality of skin morphology	6833	ABCC8	ORPHA:276575
HP:0011121	Abnormality of skin morphology	3767	KCNJ11	ORPHA:276580
HP:0011121	Abnormality of skin morphology	8029	CUBN	ORPHA:35858
HP:0011121	Abnormality of skin morphology	81693	AMN	ORPHA:35858
HP:0011121	Abnormality of skin morphology	164656	TMPRSS6	ORPHA:209981
HP:0011121	Abnormality of skin morphology	55154	MSTO1	OMIM:617675
HP:0011121	Abnormality of skin morphology	5805	PTS	ORPHA:13
HP:0011121	Abnormality of skin morphology	80324	PUS1	OMIM:600462
HP:0011121	Abnormality of skin morphology	3039	HBA1	ORPHA:163596
HP:0011121	Abnormality of skin morphology	3040	HBA2	ORPHA:163596
HP:0011121	Abnormality of skin morphology	10661	KLF1	ORPHA:46532
HP:0011121	Abnormality of skin morphology	3047	HBG1	ORPHA:46532
HP:0011121	Abnormality of skin morphology	3048	HBG2	ORPHA:46532
HP:0011121	Abnormality of skin morphology	84839	RAX2	OMIM:610381
HP:0011121	Abnormality of skin morphology	4976	OPA1	OMIM:165500
HP:0011121	Abnormality of skin morphology	2624	GATA2	ORPHA:3226
HP:0011121	Abnormality of skin morphology	2203	FBP1	ORPHA:348
HP:0011121	Abnormality of skin morphology	38	ACAT1	ORPHA:134
HP:0011121	Abnormality of skin morphology	595	CCND1	ORPHA:892
HP:0011121	Abnormality of skin morphology	9493	KIF23	ORPHA:98870
HP:0011121	Abnormality of skin morphology	29127	RACGAP1	ORPHA:98870
HP:0011121	Abnormality of skin morphology	57728	WDR19	OMIM:616307
HP:0011121	Abnormality of skin morphology	27249	MMADHC	ORPHA:79283
HP:0011121	Abnormality of skin morphology	84233	TMEM126A	OMIM:612989
HP:0011121	Abnormality of skin morphology	1719	DHFR	OMIM:613839
HP:0011121	Abnormality of skin morphology	6223	RPS19	OMIM:105650
HP:0011121	Abnormality of skin morphology	6223	RPS19	ORPHA:124
HP:0011121	Abnormality of skin morphology	6135	RPL11	ORPHA:124
HP:0011121	Abnormality of skin morphology	6138	RPL15	ORPHA:124
HP:0011121	Abnormality of skin morphology	6229	RPS24	ORPHA:124
HP:0011121	Abnormality of skin morphology	6125	RPL5	ORPHA:124
HP:0011121	Abnormality of skin morphology	6204	RPS10	ORPHA:124
HP:0011121	Abnormality of skin morphology	6224	RPS20	ORPHA:124
HP:0011121	Abnormality of skin morphology	6165	RPL35A	ORPHA:124
HP:0011121	Abnormality of skin morphology	6232	RPS27	ORPHA:124
HP:0011121	Abnormality of skin morphology	6231	RPS26	ORPHA:124
HP:0011121	Abnormality of skin morphology	11224	RPL35	ORPHA:124
HP:0011121	Abnormality of skin morphology	6160	RPL31	ORPHA:124
HP:0011121	Abnormality of skin morphology	6218	RPS17	ORPHA:124
HP:0011121	Abnormality of skin morphology	6201	RPS7	ORPHA:124
HP:0011121	Abnormality of skin morphology	6155	RPL27	ORPHA:124
HP:0011121	Abnormality of skin morphology	6154	RPL26	ORPHA:124
HP:0011121	Abnormality of skin morphology	6210	RPS15A	ORPHA:124
HP:0011121	Abnormality of skin morphology	90121	TSR2	ORPHA:124
HP:0011121	Abnormality of skin morphology	6141	RPL18	ORPHA:124
HP:0011121	Abnormality of skin morphology	6235	RPS29	ORPHA:124
HP:0011121	Abnormality of skin morphology	6234	RPS28	ORPHA:124
HP:0011121	Abnormality of skin morphology	6927	HNF1A	ORPHA:324575
HP:0011121	Abnormality of skin morphology	51067	YARS2	OMIM:613561
HP:0011121	Abnormality of skin morphology	7351	UCP2	ORPHA:276556
HP:0011121	Abnormality of skin morphology	51095	TRNT1	OMIM:616959
HP:0011121	Abnormality of skin morphology	9015	TAF1A	ORPHA:154
HP:0011121	Abnormality of skin morphology	5663	PSEN1	ORPHA:154
HP:0011121	Abnormality of skin morphology	7112	TMPO	ORPHA:154
HP:0011121	Abnormality of skin morphology	9464	HAND2	ORPHA:154
HP:0011121	Abnormality of skin morphology	4625	MYH7	ORPHA:154
HP:0011121	Abnormality of skin morphology	88	ACTN2	ORPHA:154
HP:0011121	Abnormality of skin morphology	10486	CAP2	ORPHA:154
HP:0011121	Abnormality of skin morphology	7168	TPM1	ORPHA:154
HP:0011121	Abnormality of skin morphology	7414	VCL	ORPHA:154
HP:0011121	Abnormality of skin morphology	70	ACTC1	ORPHA:154
HP:0011121	Abnormality of skin morphology	27063	ANKRD1	ORPHA:154
HP:0011121	Abnormality of skin morphology	8048	CSRP3	ORPHA:154
HP:0011121	Abnormality of skin morphology	1410	CRYAB	ORPHA:154
HP:0011121	Abnormality of skin morphology	7139	TNNT2	ORPHA:154
HP:0011121	Abnormality of skin morphology	1829	DSG2	ORPHA:154
HP:0011121	Abnormality of skin morphology	3910	LAMA4	ORPHA:154
HP:0011121	Abnormality of skin morphology	7273	TTN	ORPHA:154
HP:0011121	Abnormality of skin morphology	9531	BAG3	ORPHA:154
HP:0011121	Abnormality of skin morphology	5350	PLN	ORPHA:154
HP:0011121	Abnormality of skin morphology	91624	NEXN	ORPHA:154
HP:0011121	Abnormality of skin morphology	79717	PPCS	ORPHA:154
HP:0011121	Abnormality of skin morphology	5664	PSEN2	ORPHA:154
HP:0011121	Abnormality of skin morphology	4624	MYH6	ORPHA:154
HP:0011121	Abnormality of skin morphology	9529	BAG5	ORPHA:154
HP:0011121	Abnormality of skin morphology	4607	MYBPC3	ORPHA:154
HP:0011121	Abnormality of skin morphology	282996	RBM20	ORPHA:154
HP:0011121	Abnormality of skin morphology	7137	TNNI3	ORPHA:154
HP:0011121	Abnormality of skin morphology	11155	LDB3	ORPHA:154
HP:0011121	Abnormality of skin morphology	2274	FHL2	ORPHA:154
HP:0011121	Abnormality of skin morphology	6901	TAFAZZIN	ORPHA:154
HP:0011121	Abnormality of skin morphology	22845	DOLK	ORPHA:154
HP:0011121	Abnormality of skin morphology	1756	DMD	ORPHA:154
HP:0011121	Abnormality of skin morphology	57798	GATAD1	ORPHA:154
HP:0011121	Abnormality of skin morphology	7134	TNNC1	ORPHA:154
HP:0011121	Abnormality of skin morphology	84665	MYPN	ORPHA:154
HP:0011121	Abnormality of skin morphology	1674	DES	ORPHA:154
HP:0011121	Abnormality of skin morphology	6444	SGCD	ORPHA:154
HP:0011121	Abnormality of skin morphology	6331	SCN5A	ORPHA:154
HP:0011121	Abnormality of skin morphology	2218	FKTN	ORPHA:154
HP:0011121	Abnormality of skin morphology	8557	TCAP	ORPHA:154
HP:0011121	Abnormality of skin morphology	162	AP1B1	OMIM:242150
HP:0011121	Abnormality of skin morphology	1824	DSC2	OMIM:610476
HP:0011121	Abnormality of skin morphology	6898	TAT	ORPHA:28378
HP:0011121	Abnormality of skin morphology	1474	CST6	OMIM:618535
HP:0011121	Abnormality of skin morphology	25959	KANK2	OMIM:616099
HP:0011121	Abnormality of skin morphology	57192	MCOLN1	ORPHA:578
HP:0011121	Abnormality of skin morphology	92840	REEP6	ORPHA:791
HP:0011121	Abnormality of skin morphology	6094	ROM1	ORPHA:791
HP:0011121	Abnormality of skin morphology	6017	RLBP1	ORPHA:791
HP:0011121	Abnormality of skin morphology	7401	CLRN1	ORPHA:791
HP:0011121	Abnormality of skin morphology	24	ABCA4	ORPHA:791
HP:0011121	Abnormality of skin morphology	130557	ZNF513	ORPHA:791
HP:0011121	Abnormality of skin morphology	582	BBS1	ORPHA:791
HP:0011121	Abnormality of skin morphology	92211	CDHR1	ORPHA:791
HP:0011121	Abnormality of skin morphology	23568	ARL2BP	ORPHA:791
HP:0011121	Abnormality of skin morphology	6121	RPE65	ORPHA:791
HP:0011121	Abnormality of skin morphology	54806	AHI1	ORPHA:791
HP:0011121	Abnormality of skin morphology	6101	RP1	ORPHA:791
HP:0011121	Abnormality of skin morphology	3419	IDH3A	ORPHA:791
HP:0011121	Abnormality of skin morphology	4751	NEK2	ORPHA:791
HP:0011121	Abnormality of skin morphology	346007	EYS	ORPHA:791
HP:0011121	Abnormality of skin morphology	8100	IFT88	ORPHA:791
HP:0011121	Abnormality of skin morphology	23020	SNRNP200	ORPHA:791
HP:0011121	Abnormality of skin morphology	762	CA4	ORPHA:791
HP:0011121	Abnormality of skin morphology	138050	HGSNAT	ORPHA:791
HP:0011121	Abnormality of skin morphology	196	AHR	ORPHA:791
HP:0011121	Abnormality of skin morphology	3614	IMPDH1	ORPHA:791
HP:0011121	Abnormality of skin morphology	6103	RPGR	ORPHA:791
HP:0011121	Abnormality of skin morphology	1406	CRX	ORPHA:791
HP:0011121	Abnormality of skin morphology	5148	PDE6G	ORPHA:791
HP:0011121	Abnormality of skin morphology	26160	IFT172	ORPHA:791
HP:0011121	Abnormality of skin morphology	26121	PRPF31	ORPHA:791
HP:0011121	Abnormality of skin morphology	583	BBS2	ORPHA:791
HP:0011121	Abnormality of skin morphology	4117	MAK	ORPHA:791
HP:0011121	Abnormality of skin morphology	25794	FSCN2	ORPHA:791
HP:0011121	Abnormality of skin morphology	375298	CERKL	ORPHA:791
HP:0011121	Abnormality of skin morphology	3420	IDH3B	ORPHA:791
HP:0011121	Abnormality of skin morphology	57670	KIAA1549	ORPHA:791
HP:0011121	Abnormality of skin morphology	7275	TUB	ORPHA:791
HP:0011121	Abnormality of skin morphology	24148	PRPF6	ORPHA:791
HP:0011121	Abnormality of skin morphology	23418	CRB1	ORPHA:791
HP:0011121	Abnormality of skin morphology	10461	MERTK	ORPHA:791
HP:0011121	Abnormality of skin morphology	57709	SLC7A14	ORPHA:791
HP:0011121	Abnormality of skin morphology	768206	PRCD	ORPHA:791
HP:0011121	Abnormality of skin morphology	7399	USH2A	ORPHA:791
HP:0011121	Abnormality of skin morphology	23370	ARHGEF18	ORPHA:791
HP:0011121	Abnormality of skin morphology	5949	RBP3	ORPHA:791
HP:0011121	Abnormality of skin morphology	6010	RHO	ORPHA:791
HP:0011121	Abnormality of skin morphology	6100	RP9	ORPHA:791
HP:0011121	Abnormality of skin morphology	10002	NR2E3	ORPHA:791
HP:0011121	Abnormality of skin morphology	84140	FAM161A	ORPHA:791
HP:0011121	Abnormality of skin morphology	55812	SPATA7	ORPHA:791
HP:0011121	Abnormality of skin morphology	403	ARL3	ORPHA:791
HP:0011121	Abnormality of skin morphology	5145	PDE6A	ORPHA:791
HP:0011121	Abnormality of skin morphology	10210	TOPORS	ORPHA:791
HP:0011121	Abnormality of skin morphology	8842	PROM1	ORPHA:791
HP:0011121	Abnormality of skin morphology	9128	PRPF4	ORPHA:791
HP:0011121	Abnormality of skin morphology	145226	RDH12	ORPHA:791
HP:0011121	Abnormality of skin morphology	50939	IMPG2	ORPHA:791
HP:0011121	Abnormality of skin morphology	49855	SCAPER	ORPHA:791
HP:0011121	Abnormality of skin morphology	2979	GUCA1B	ORPHA:791
HP:0011121	Abnormality of skin morphology	1259	CNGA1	ORPHA:791
HP:0011121	Abnormality of skin morphology	1258	CNGB1	ORPHA:791
HP:0011121	Abnormality of skin morphology	5961	PRPH2	ORPHA:791
HP:0011121	Abnormality of skin morphology	388939	PCARE	ORPHA:791
HP:0011121	Abnormality of skin morphology	7439	BEST1	ORPHA:791
HP:0011121	Abnormality of skin morphology	9785	DHX38	ORPHA:791
HP:0011121	Abnormality of skin morphology	7287	TULP1	ORPHA:791
HP:0011121	Abnormality of skin morphology	5995	RGR	ORPHA:791
HP:0011121	Abnormality of skin morphology	9129	PRPF3	ORPHA:791
HP:0011121	Abnormality of skin morphology	55975	KLHL7	ORPHA:791
HP:0011121	Abnormality of skin morphology	3617	IMPG1	ORPHA:791
HP:0011121	Abnormality of skin morphology	94137	RP1L1	ORPHA:791
HP:0011121	Abnormality of skin morphology	5158	PDE6B	ORPHA:791
HP:0011121	Abnormality of skin morphology	6102	RP2	ORPHA:791
HP:0011121	Abnormality of skin morphology	55857	KIZ	ORPHA:791
HP:0011121	Abnormality of skin morphology	64218	SEMA4A	ORPHA:791
HP:0011121	Abnormality of skin morphology	4901	NRL	ORPHA:791
HP:0011121	Abnormality of skin morphology	157657	CFAP418	ORPHA:791
HP:0011121	Abnormality of skin morphology	10594	PRPF8	ORPHA:791
HP:0011121	Abnormality of skin morphology	84100	ARL6	ORPHA:791
HP:0011121	Abnormality of skin morphology	6295	SAG	ORPHA:791
HP:0011121	Abnormality of skin morphology	79947	DHDDS	ORPHA:791
HP:0011121	Abnormality of skin morphology	23385	NCSTN	OMIM:142690
HP:0011121	Abnormality of skin morphology	26119	LDLRAP1	ORPHA:391665
HP:0011121	Abnormality of skin morphology	64240	ABCG5	ORPHA:391665
HP:0011121	Abnormality of skin morphology	144165	PRICKLE1	ORPHA:308
HP:0011121	Abnormality of skin morphology	1476	CSTB	ORPHA:308
HP:0011121	Abnormality of skin morphology	6096	RORB	OMIM:618357
HP:0011121	Abnormality of skin morphology	10845	CLPX	OMIM:618015
HP:0011121	Abnormality of skin morphology	1656	DDX6	OMIM:618653
HP:0011121	Abnormality of skin morphology	375748	ERCC6L2	OMIM:615715
HP:0011121	Abnormality of skin morphology	2222	FDFT1	OMIM:618156
HP:0011121	Abnormality of skin morphology	2961	GTF2E2	OMIM:616943
HP:0011121	Abnormality of skin morphology	2961	GTF2E2	ORPHA:33364
HP:0011121	Abnormality of skin morphology	833	CARS1	ORPHA:33364
HP:0011121	Abnormality of skin morphology	136647	MPLKIP	ORPHA:33364
HP:0011121	Abnormality of skin morphology	2212	FCGR2A	OMIM:152700
HP:0011121	Abnormality of skin morphology	2213	FCGR2B	OMIM:152700
HP:0011121	Abnormality of skin morphology	1773	DNASE1	OMIM:152700
HP:0011121	Abnormality of skin morphology	5144	PDE4D	ORPHA:950
HP:0011121	Abnormality of skin morphology	1139	CHRNA7	ORPHA:199318
HP:0011121	Abnormality of skin morphology	23512	SUZ12	OMIM:618786
HP:0011121	Abnormality of skin morphology	8643	PTCH2	ORPHA:377
HP:0011121	Abnormality of skin morphology	51684	SUFU	ORPHA:377
HP:0011121	Abnormality of skin morphology	4784	NFIX	OMIM:602535
HP:0011121	Abnormality of skin morphology	2146	EZH2	OMIM:277590
HP:0011121	Abnormality of skin morphology	22800	RRAS2	ORPHA:648
HP:0011121	Abnormality of skin morphology	6237	RRAS	ORPHA:648
HP:0011121	Abnormality of skin morphology	6654	SOS1	ORPHA:648
HP:0011121	Abnormality of skin morphology	6655	SOS2	ORPHA:648
HP:0011121	Abnormality of skin morphology	5922	RASA2	ORPHA:648
HP:0011121	Abnormality of skin morphology	8726	EED	OMIM:617561
HP:0011121	Abnormality of skin morphology	55131	RBM28	OMIM:612079
HP:0011121	Abnormality of skin morphology	4352	MPL	ORPHA:3319
HP:0011121	Abnormality of skin morphology	7066	THPO	ORPHA:3319
HP:0011121	Abnormality of skin morphology	11285	B4GALT7	ORPHA:75496
HP:0011121	Abnormality of skin morphology	54888	NSUN2	ORPHA:235
HP:0011121	Abnormality of skin morphology	4308	TRPM1	OMIM:613216
HP:0011121	Abnormality of skin morphology	3425	IDUA	ORPHA:93473
HP:0011121	Abnormality of skin morphology	324	APC	ORPHA:79665
HP:0011121	Abnormality of skin morphology	79644	SRD5A3	OMIM:612379
HP:0011121	Abnormality of skin morphology	1654	DDX3X	ORPHA:457260
HP:0011121	Abnormality of skin morphology	10484	SEC23A	ORPHA:50814
HP:0011121	Abnormality of skin morphology	9184	BUB3	ORPHA:1052
HP:0011121	Abnormality of skin morphology	699	BUB1	ORPHA:1052
HP:0011121	Abnormality of skin morphology	9702	CEP57	ORPHA:1052
HP:0011121	Abnormality of skin morphology	9319	TRIP13	ORPHA:1052
HP:0011121	Abnormality of skin morphology	701	BUB1B	ORPHA:1052
HP:0011121	Abnormality of skin morphology	5277	PIGA	OMIM:300868
HP:0011121	Abnormality of skin morphology	85378	TUBGCP6	OMIM:251270
HP:0011121	Abnormality of skin morphology	7189	TRAF6	ORPHA:1810
HP:0011121	Abnormality of skin morphology	9719	ADAMTSL2	ORPHA:1901
HP:0011121	Abnormality of skin morphology	79053	ALG8	ORPHA:79325
HP:0011121	Abnormality of skin morphology	5605	MAP2K2	OMIM:615280
HP:0011121	Abnormality of skin morphology	5605	MAP2K2	ORPHA:1340
HP:0011121	Abnormality of skin morphology	8036	SHOC2	OMIM:607721
HP:0011121	Abnormality of skin morphology	5781	PTPN11	OMIM:151100
HP:0011121	Abnormality of skin morphology	5781	PTPN11	ORPHA:500
HP:0011121	Abnormality of skin morphology	5594	MAPK1	OMIM:619087
HP:0011121	Abnormality of skin morphology	5894	RAF1	OMIM:611554
HP:0011121	Abnormality of skin morphology	5894	RAF1	OMIM:611553
HP:0011121	Abnormality of skin morphology	5894	RAF1	ORPHA:500
HP:0011121	Abnormality of skin morphology	5604	MAP2K1	ORPHA:1340
HP:0011121	Abnormality of skin morphology	1616	DAXX	ORPHA:100075
HP:0011121	Abnormality of skin morphology	2934	GSN	ORPHA:85448
HP:0011121	Abnormality of skin morphology	11284	PNKP	ORPHA:459033
HP:0011121	Abnormality of skin morphology	5590	PRKCZ	ORPHA:1606
HP:0011121	Abnormality of skin morphology	2563	GABRD	ORPHA:1606
HP:0011121	Abnormality of skin morphology	8510	MMP23B	ORPHA:1606
HP:0011121	Abnormality of skin morphology	7798	LUZP1	ORPHA:1606
HP:0011121	Abnormality of skin morphology	6497	SKI	ORPHA:1606
HP:0011121	Abnormality of skin morphology	10630	PDPN	ORPHA:1606
HP:0011121	Abnormality of skin morphology	10277	UBE4B	ORPHA:1606
HP:0011121	Abnormality of skin morphology	8514	KCNAB2	ORPHA:1606
HP:0011121	Abnormality of skin morphology	473	RERE	ORPHA:1606
HP:0011121	Abnormality of skin morphology	63976	PRDM16	ORPHA:1606
HP:0011121	Abnormality of skin morphology	54897	CASZ1	ORPHA:1606
HP:0011121	Abnormality of skin morphology	1729	DIAPH1	ORPHA:2573
HP:0011121	Abnormality of skin morphology	59	ACTA2	ORPHA:2573
HP:0011121	Abnormality of skin morphology	57674	RNF213	ORPHA:2573
HP:0011121	Abnormality of skin morphology	83605	CCM2	OMIM:603284
HP:0011121	Abnormality of skin morphology	3981	LIG4	OMIM:606593
HP:0011121	Abnormality of skin morphology	6888	TALDO1	ORPHA:101028
HP:0011121	Abnormality of skin morphology	6888	TALDO1	OMIM:606003
HP:0011121	Abnormality of skin morphology	4010	LMX1B	ORPHA:495818
HP:0011121	Abnormality of skin morphology	6812	STXBP1	ORPHA:495818
HP:0011121	Abnormality of skin morphology	2022	ENG	OMIM:187300
HP:0011121	Abnormality of skin morphology	8813	DPM1	OMIM:608799
HP:0011121	Abnormality of skin morphology	84992	PIGY	ORPHA:247262
HP:0011121	Abnormality of skin morphology	84720	PIGO	ORPHA:247262
HP:0011121	Abnormality of skin morphology	93210	PGAP3	ORPHA:247262
HP:0011121	Abnormality of skin morphology	284098	PIGW	ORPHA:247262
HP:0011121	Abnormality of skin morphology	27315	PGAP2	ORPHA:247262
HP:0011121	Abnormality of skin morphology	55650	PIGV	ORPHA:247262
HP:0011121	Abnormality of skin morphology	9487	PIGL	ORPHA:247262
HP:0011121	Abnormality of skin morphology	57654	UVSSA	OMIM:614640
HP:0011121	Abnormality of skin morphology	545	ATR	OMIM:614564
HP:0011121	Abnormality of skin morphology	340061	STING1	OMIM:615934
HP:0011121	Abnormality of skin morphology	4361	MRE11	OMIM:604391
HP:0011121	Abnormality of skin morphology	659	BMPR2	OMIM:178600
HP:0011121	Abnormality of skin morphology	2658	GDF2	OMIM:615506
HP:0011121	Abnormality of skin morphology	165918	RNF168	ORPHA:420741
HP:0011121	Abnormality of skin morphology	4089	SMAD4	OMIM:175050
HP:0011121	Abnormality of skin morphology	4668	NAGA	ORPHA:79279
HP:0011121	Abnormality of skin morphology	650	BMP2	OMIM:235200
HP:0011121	Abnormality of skin morphology	4758	NEU1	ORPHA:93400
HP:0011121	Abnormality of skin morphology	1497	CTNS	OMIM:219800
HP:0011121	Abnormality of skin morphology	5122	PCSK1	ORPHA:71528
HP:0011121	Abnormality of skin morphology	7355	SLC35A2	ORPHA:356961
HP:0011121	Abnormality of skin morphology	5443	POMC	ORPHA:71526
HP:0011121	Abnormality of skin morphology	84942	WDR73	OMIM:251300
HP:0011121	Abnormality of skin morphology	7681	MKRN3	OMIM:176270
HP:0011121	Abnormality of skin morphology	3653	IPW	OMIM:176270
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	OMIM:176270
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	ORPHA:177904
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	ORPHA:177901
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	ORPHA:398069
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	ORPHA:177910
HP:0011121	Abnormality of skin morphology	54551	MAGEL2	ORPHA:98754
HP:0011121	Abnormality of skin morphology	791114	PWRN1	OMIM:176270
HP:0011121	Abnormality of skin morphology	100033413	SNORD116-1	OMIM:176270
HP:0011121	Abnormality of skin morphology	8924	HERC2	OMIM:176270
HP:0011121	Abnormality of skin morphology	145624	PWAR1	OMIM:176270
HP:0011121	Abnormality of skin morphology	23742	NPAP1	OMIM:176270
HP:0011121	Abnormality of skin morphology	338433	SNORD115-1	OMIM:176270
HP:0011121	Abnormality of skin morphology	64324	NSD1	ORPHA:821
HP:0011121	Abnormality of skin morphology	29072	SETD2	ORPHA:821
HP:0011121	Abnormality of skin morphology	10297	APC2	ORPHA:821
HP:0011121	Abnormality of skin morphology	1638	DCT	OMIM:619165
HP:0011121	Abnormality of skin morphology	6492	SIM1	ORPHA:398079
HP:0011121	Abnormality of skin morphology	28960	DCPS	OMIM:616459
HP:0011121	Abnormality of skin morphology	1130	LYST	OMIM:214500
HP:0011121	Abnormality of skin morphology	1130	LYST	ORPHA:167
HP:0011121	Abnormality of skin morphology	5053	PAH	ORPHA:79254
HP:0011121	Abnormality of skin morphology	79158	GNPTAB	OMIM:252500
HP:0011121	Abnormality of skin morphology	7337	UBE3A	ORPHA:98794
HP:0011121	Abnormality of skin morphology	7337	UBE3A	ORPHA:98795
HP:0011121	Abnormality of skin morphology	7337	UBE3A	OMIM:105830
HP:0011121	Abnormality of skin morphology	7337	UBE3A	ORPHA:411511
HP:0011121	Abnormality of skin morphology	7337	UBE3A	ORPHA:411515
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:177904
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:177901
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:177910
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:177907
HP:0011121	Abnormality of skin morphology	6638	SNRPN	OMIM:105830
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:98754
HP:0011121	Abnormality of skin morphology	6638	SNRPN	ORPHA:411515
HP:0011121	Abnormality of skin morphology	4692	NDN	ORPHA:177904
HP:0011121	Abnormality of skin morphology	4692	NDN	ORPHA:177901
HP:0011121	Abnormality of skin morphology	4692	NDN	ORPHA:177910
HP:0011121	Abnormality of skin morphology	4692	NDN	ORPHA:98754
HP:0011121	Abnormality of skin morphology	114034	TOE1	OMIM:614969
HP:0011121	Abnormality of skin morphology	26258	BLOC1S6	OMIM:614171
HP:0011121	Abnormality of skin morphology	56244	BTNL2	ORPHA:797
HP:0011121	Abnormality of skin morphology	1186	CLCN7	OMIM:618541
HP:0011121	Abnormality of skin morphology	6711	SPTBN1	OMIM:619475
HP:0011121	Abnormality of skin morphology	538	ATP7A	OMIM:309400
HP:0011121	Abnormality of skin morphology	4644	MYO5A	ORPHA:33445
HP:0011121	Abnormality of skin morphology	4644	MYO5A	OMIM:214450
HP:0011121	Abnormality of skin morphology	374879	ZNF699	OMIM:619488
HP:0011121	Abnormality of skin morphology	84343	HPS3	OMIM:614072
HP:0011121	Abnormality of skin morphology	79803	HPS6	OMIM:614075
HP:0011121	Abnormality of skin morphology	55717	WDR11	OMIM:620237
HP:0011121	Abnormality of skin morphology	28956	LAMTOR2	OMIM:610798
HP:0011121	Abnormality of skin morphology	57724	EPG5	OMIM:242840
HP:0011121	Abnormality of skin morphology	57724	EPG5	ORPHA:1493
HP:0011121	Abnormality of skin morphology	7030	TFE3	OMIM:301066
HP:0011121	Abnormality of skin morphology	5873	RAB27A	OMIM:607624
HP:0011121	Abnormality of skin morphology	348	APOE	ORPHA:158029
HP:0011121	Abnormality of skin morphology	26503	SLC17A5	OMIM:269920
HP:0011121	Abnormality of skin morphology	875	CBS	OMIM:236200
HP:0011121	Abnormality of skin morphology	10195	ALG3	ORPHA:79321
HP:0011121	Abnormality of skin morphology	4292	MLH1	OMIM:276300
HP:0011121	Abnormality of skin morphology	3991	LIPE	OMIM:615980
HP:0011121	Abnormality of skin morphology	57194	ATP10A	ORPHA:411515
HP:0011121	Abnormality of skin morphology	51151	SLC45A2	ORPHA:79435
HP:0011121	Abnormality of skin morphology	344	APOC2	OMIM:207750
HP:0011121	Abnormality of skin morphology	3990	LIPC	OMIM:614025
HP:0011121	Abnormality of skin morphology	3990	LIPC	ORPHA:140905
HP:0011121	Abnormality of skin morphology	338328	GPIHBP1	OMIM:615947
HP:0011121	Abnormality of skin morphology	4023	LPL	OMIM:238600
HP:0011121	Abnormality of skin morphology	2717	GLA	OMIM:301500
HP:0011121	Abnormality of skin morphology	2717	GLA	ORPHA:324
HP:0011121	Abnormality of skin morphology	4126	MANBA	OMIM:248510
HP:0011121	Abnormality of skin morphology	5295	PIK3R1	OMIM:269880
HP:0011121	Abnormality of skin morphology	29957	SLC25A24	OMIM:612289
HP:0011121	Abnormality of skin morphology	92579	G6PC3	OMIM:612541
HP:0011121	Abnormality of skin morphology	8815	BANF1	OMIM:614008
HP:0011121	Abnormality of skin morphology	5831	PYCR1	OMIM:612940
HP:0011121	Abnormality of skin morphology	5831	PYCR1	OMIM:614438
HP:0011121	Abnormality of skin morphology	5468	PPARG	ORPHA:528
HP:0011121	Abnormality of skin morphology	5468	PPARG	OMIM:604367
HP:0011121	Abnormality of skin morphology	10555	AGPAT2	ORPHA:528
HP:0011121	Abnormality of skin morphology	284119	CAVIN1	ORPHA:528
HP:0011121	Abnormality of skin morphology	26580	BSCL2	ORPHA:528
HP:0011121	Abnormality of skin morphology	2353	FOS	ORPHA:528
HP:0011121	Abnormality of skin morphology	25839	COG4	OMIM:618150
HP:0011121	Abnormality of skin morphology	221496	LEMD2	OMIM:619322
HP:0011121	Abnormality of skin morphology	2324	FLT4	OMIM:153100
HP:0011121	Abnormality of skin morphology	91252	SLC39A13	OMIM:612350
HP:0011121	Abnormality of skin morphology	7424	VEGFC	OMIM:615907
HP:0011121	Abnormality of skin morphology	212	ALAS2	OMIM:300751
HP:0011121	Abnormality of skin morphology	55636	CHD7	OMIM:214800
HP:0011121	Abnormality of skin morphology	6595	SMARCA2	ORPHA:2728
HP:0011121	Abnormality of skin morphology	54880	BCOR	OMIM:309800
HP:0011121	Abnormality of skin morphology	63915	BLOC1S5	OMIM:619172
HP:0011121	Abnormality of skin morphology	8943	AP3D1	OMIM:617050
HP:0011121	Abnormality of skin morphology	83938	LRMDA	OMIM:615179
HP:0011121	Abnormality of skin morphology	11152	WDR45	OMIM:615179
HP:0011121	Abnormality of skin morphology	8546	AP3B1	OMIM:608233
HP:0011121	Abnormality of skin morphology	89781	HPS4	OMIM:614073
HP:0011121	Abnormality of skin morphology	11234	HPS5	OMIM:614074
HP:0011121	Abnormality of skin morphology	778	CACNA1F	OMIM:300600
HP:0011121	Abnormality of skin morphology	388552	BLOC1S3	OMIM:614077
HP:0011121	Abnormality of skin morphology	84062	DTNBP1	OMIM:614076
HP:0011121	Abnormality of skin morphology	249	ALPL	OMIM:241500
HP:0011121	Abnormality of skin morphology	249	ALPL	OMIM:241510
HP:0011121	Abnormality of skin morphology	54790	TET2	ORPHA:98850
HP:0011121	Abnormality of skin morphology	54790	TET2	ORPHA:98849
HP:0011121	Abnormality of skin morphology	867	CBL	ORPHA:98850
HP:0011121	Abnormality of skin morphology	861	RUNX1	ORPHA:98850
HP:0011121	Abnormality of skin morphology	6427	SRSF2	ORPHA:98850
HP:0011121	Abnormality of skin morphology	6427	SRSF2	ORPHA:98849
HP:0011121	Abnormality of skin morphology	356	FASLG	ORPHA:3261
HP:0011121	Abnormality of skin morphology	356	FASLG	OMIM:601859
HP:0011121	Abnormality of skin morphology	843	CASP10	ORPHA:3261
HP:0011121	Abnormality of skin morphology	843	CASP10	OMIM:603909
HP:0011121	Abnormality of skin morphology	10125	RASGRP1	ORPHA:3261
HP:0011121	Abnormality of skin morphology	10262	SF3B4	OMIM:154400
HP:0011121	Abnormality of skin morphology	114548	NLRP3	OMIM:617772
HP:0011121	Abnormality of skin morphology	114548	NLRP3	ORPHA:575
HP:0011121	Abnormality of skin morphology	114548	NLRP3	ORPHA:47045
HP:0011121	Abnormality of skin morphology	114548	NLRP3	ORPHA:1451
HP:0011121	Abnormality of skin morphology	114548	NLRP3	OMIM:120100
HP:0011121	Abnormality of skin morphology	118429	ANTXR2	ORPHA:2176
HP:0011121	Abnormality of skin morphology	7454	WAS	ORPHA:906
HP:0011121	Abnormality of skin morphology	7456	WIPF1	ORPHA:906
HP:0011121	Abnormality of skin morphology	3119	HLA-DQB1	ORPHA:703
HP:0011121	Abnormality of skin morphology	7512	XPNPEP2	ORPHA:100057
HP:0011121	Abnormality of skin morphology	58484	NLRC4	OMIM:616050
HP:0011121	Abnormality of skin morphology	58484	NLRC4	OMIM:616115
HP:0011121	Abnormality of skin morphology	224	ALDH3A2	ORPHA:816
HP:0011121	Abnormality of skin morphology	91662	NLRP12	OMIM:611762
HP:0011121	Abnormality of skin morphology	710	SERPING1	ORPHA:100050
HP:0011121	Abnormality of skin morphology	6785	ELOVL4	ORPHA:1955
HP:0011121	Abnormality of skin morphology	1369	CPN1	OMIM:212070
HP:0011121	Abnormality of skin morphology	50943	FOXP3	ORPHA:37042
HP:0011121	Abnormality of skin morphology	4615	MYD88	ORPHA:33226
HP:0011121	Abnormality of skin morphology	80216	ALPK1	OMIM:614979
HP:0011121	Abnormality of skin morphology	2161	F12	ORPHA:330
HP:0011121	Abnormality of skin morphology	81846	SBF2	ORPHA:99956
HP:0011121	Abnormality of skin morphology	3636	INPPL1	OMIM:258480
HP:0011121	Abnormality of skin morphology	81031	SLC2A10	OMIM:208050
HP:0011121	Abnormality of skin morphology	10367	MICU1	OMIM:615673
HP:0011121	Abnormality of skin morphology	6651	SON	ORPHA:500150
HP:0011121	Abnormality of skin morphology	3376	IARS1	ORPHA:541423
HP:0011121	Abnormality of skin morphology	64131	XYLT1	ORPHA:370930
HP:0011121	Abnormality of skin morphology	55699	IARS2	OMIM:616007
HP:0011121	Abnormality of skin morphology	641	BLM	ORPHA:125
HP:0011121	Abnormality of skin morphology	374393	FAM111B	OMIM:615704
HP:0011121	Abnormality of skin morphology	84946	LTV1	OMIM:620199
HP:0011121	Abnormality of skin morphology	5317	PKP1	OMIM:604536
HP:0011121	Abnormality of skin morphology	5317	PKP1	ORPHA:158668
HP:0011121	Abnormality of skin morphology	3728	JUP	ORPHA:158687
HP:0011121	Abnormality of skin morphology	3728	JUP	OMIM:601214
HP:0011121	Abnormality of skin morphology	3675	ITGA3	OMIM:614748
HP:0011121	Abnormality of skin morphology	113189	CHST14	OMIM:601776
HP:0011121	Abnormality of skin morphology	831	CAST	OMIM:616295
HP:0011121	Abnormality of skin morphology	126792	B3GALT6	OMIM:271640
HP:0011121	Abnormality of skin morphology	1281	COL3A1	OMIM:130050
HP:0011121	Abnormality of skin morphology	7389	UROD	ORPHA:95159
HP:0011121	Abnormality of skin morphology	7389	UROD	OMIM:176100
HP:0011121	Abnormality of skin morphology	23086	EXPH5	OMIM:615028
HP:0011121	Abnormality of skin morphology	3848	KRT1	OMIM:146590
HP:0011121	Abnormality of skin morphology	1371	CPOX	ORPHA:79273
HP:0011121	Abnormality of skin morphology	3077	HFE	OMIM:176100
HP:0011121	Abnormality of skin morphology	7390	UROS	ORPHA:79277
HP:0011121	Abnormality of skin morphology	2623	GATA1	ORPHA:79277
HP:0011121	Abnormality of skin morphology	4221	MEN1	OMIM:131100
HP:0011121	Abnormality of skin morphology	657	BMPR1A	ORPHA:79076
HP:0011121	Abnormality of skin morphology	1027	CDKN1B	ORPHA:276152
HP:0011121	Abnormality of skin morphology	217	ALDH2	OMIM:610251
HP:0011121	Abnormality of skin morphology	23141	ANKLE2	OMIM:616681
HP:0011121	Abnormality of skin morphology	112858	TP53RK	OMIM:617730
HP:0011121	Abnormality of skin morphology	23135	KDM6B	OMIM:618505
HP:0011121	Abnormality of skin morphology	60	ACTB	ORPHA:64755
HP:0011121	Abnormality of skin morphology	3569	IL6	OMIM:148000
HP:0011121	Abnormality of skin morphology	56983	POGLUT1	ORPHA:79145
HP:0011121	Abnormality of skin morphology	23509	POFUT1	ORPHA:79145
HP:0011121	Abnormality of skin morphology	55851	PSENEN	ORPHA:79145
HP:0011121	Abnormality of skin morphology	1161	ERCC8	ORPHA:90321
HP:0011121	Abnormality of skin morphology	1161	ERCC8	ORPHA:90322
HP:0011121	Abnormality of skin morphology	2067	ERCC1	ORPHA:90322
HP:0011121	Abnormality of skin morphology	50485	SMARCAL1	ORPHA:1830
HP:0011121	Abnormality of skin morphology	50485	SMARCAL1	OMIM:242900
HP:0011121	Abnormality of skin morphology	488	ATP2A2	ORPHA:218
HP:0011121	Abnormality of skin morphology	488	ATP2A2	OMIM:124200
HP:0011121	Abnormality of skin morphology	7132	TNFRSF1A	ORPHA:32960
HP:0011121	Abnormality of skin morphology	1536	CYBB	ORPHA:379
HP:0011121	Abnormality of skin morphology	4688	NCF2	ORPHA:379
HP:0011121	Abnormality of skin morphology	1535	CYBA	ORPHA:379
HP:0011121	Abnormality of skin morphology	4689	NCF4	ORPHA:379
HP:0011121	Abnormality of skin morphology	79415	CYBC1	ORPHA:379
HP:0011121	Abnormality of skin morphology	8869	ST3GAL5	OMIM:609056
HP:0011121	Abnormality of skin morphology	54	ACP5	OMIM:607944
HP:0011121	Abnormality of skin morphology	716	C1S	ORPHA:75392
HP:0011121	Abnormality of skin morphology	3643	INSR	OMIM:246200
HP:0011121	Abnormality of skin morphology	1663	DDX11	OMIM:613398
HP:0011121	Abnormality of skin morphology	23328	SASH1	OMIM:618373
HP:0011121	Abnormality of skin morphology	10457	GPNMB	OMIM:617920
HP:0011121	Abnormality of skin morphology	2707	GJB3	ORPHA:317
HP:0011121	Abnormality of skin morphology	2531	KDSR	ORPHA:317
HP:0011121	Abnormality of skin morphology	127534	GJB4	ORPHA:317
HP:0011121	Abnormality of skin morphology	4763	NF1	ORPHA:97685
HP:0011121	Abnormality of skin morphology	126410	CYP4F22	OMIM:604777
HP:0011121	Abnormality of skin morphology	4014	LORICRIN	OMIM:604117
HP:0011121	Abnormality of skin morphology	4014	LORICRIN	ORPHA:79395
HP:0011121	Abnormality of skin morphology	9076	CLDN1	OMIM:607626
HP:0011121	Abnormality of skin morphology	7051	TGM1	OMIM:242300
HP:0011121	Abnormality of skin morphology	7051	TGM1	ORPHA:100976
HP:0011121	Abnormality of skin morphology	388698	FLG2	OMIM:618084
HP:0011121	Abnormality of skin morphology	3939	LDHA	ORPHA:284426
HP:0011121	Abnormality of skin morphology	348938	NIPAL4	OMIM:612281
HP:0011121	Abnormality of skin morphology	50814	NSDHL	OMIM:308050
HP:0011121	Abnormality of skin morphology	64834	ELOVL1	OMIM:618527
HP:0011121	Abnormality of skin morphology	79651	RHBDF2	OMIM:148500
HP:0011121	Abnormality of skin morphology	1041	CDSN	ORPHA:90368
HP:0011121	Abnormality of skin morphology	121391	KRT74	ORPHA:90368
HP:0011121	Abnormality of skin morphology	79092	CARD14	OMIM:173200
HP:0011121	Abnormality of skin morphology	79092	CARD14	OMIM:602723
HP:0011121	Abnormality of skin morphology	26525	IL36RN	OMIM:614204
HP:0011121	Abnormality of skin morphology	51371	POMP	OMIM:601952
HP:0011121	Abnormality of skin morphology	54795	TRPM4	OMIM:618531
HP:0011121	Abnormality of skin morphology	162514	TRPV3	OMIM:614594
HP:0011121	Abnormality of skin morphology	10654	PMVK	OMIM:175800
HP:0011121	Abnormality of skin morphology	22861	NLRP1	OMIM:615225
HP:0011121	Abnormality of skin morphology	51360	MBTPS2	OMIM:300918
HP:0011121	Abnormality of skin morphology	11005	SPINK5	OMIM:256500
HP:0011121	Abnormality of skin morphology	64065	PERP	OMIM:619208
HP:0011121	Abnormality of skin morphology	2744	GLS	OMIM:618339
HP:0011121	Abnormality of skin morphology	4597	MVD	OMIM:614714
HP:0011121	Abnormality of skin morphology	5624	PROC	OMIM:176860
HP:0011121	Abnormality of skin morphology	5624	PROC	ORPHA:745
HP:0011121	Abnormality of skin morphology	5627	PROS1	OMIM:612336
HP:0011121	Abnormality of skin morphology	116519	APOA5	OMIM:145750
HP:0011121	Abnormality of skin morphology	1144	CHRND	OMIM:253290
HP:0011121	Abnormality of skin morphology	1134	CHRNA1	OMIM:253290
HP:0011121	Abnormality of skin morphology	399	RHOH	OMIM:618307
HP:0011121	Abnormality of skin morphology	3785	KCNQ2	ORPHA:439218
HP:0011121	Abnormality of skin morphology	2783	GNB2	OMIM:619503
HP:0011121	Abnormality of skin morphology	30817	ADGRE2	OMIM:125630
HP:0011121	Abnormality of skin morphology	1387	CREBBP	OMIM:180849
HP:0011121	Abnormality of skin morphology	2033	EP300	OMIM:180849
HP:0011121	Abnormality of skin morphology	9791	PTDSS1	OMIM:151050
HP:0011121	Abnormality of skin morphology	11128	POLR3A	OMIM:264090
HP:0011121	Abnormality of skin morphology	11128	POLR3A	ORPHA:3455
HP:0011121	Abnormality of skin morphology	64421	DCLRE1C	ORPHA:275
HP:0011121	Abnormality of skin morphology	4558	MT-TF	ORPHA:550
HP:0011121	Abnormality of skin morphology	4572	MT-TQ	ORPHA:550
HP:0011121	Abnormality of skin morphology	4512	MT-CO1	ORPHA:550
HP:0011121	Abnormality of skin morphology	4513	MT-CO2	ORPHA:550
HP:0011121	Abnormality of skin morphology	4514	MT-CO3	ORPHA:550
HP:0011121	Abnormality of skin morphology	4578	MT-TW	ORPHA:550
HP:0011121	Abnormality of skin morphology	4540	MT-ND5	ORPHA:550
HP:0011121	Abnormality of skin morphology	4541	MT-ND6	ORPHA:550
HP:0011121	Abnormality of skin morphology	4535	MT-ND1	ORPHA:550
HP:0011121	Abnormality of skin morphology	4538	MT-ND4	ORPHA:550
HP:0011121	Abnormality of skin morphology	4567	MT-TL1	ORPHA:550
HP:0011121	Abnormality of skin morphology	4574	MT-TS1	ORPHA:550
HP:0011121	Abnormality of skin morphology	4575	MT-TS2	ORPHA:550
HP:0011121	Abnormality of skin morphology	4564	MT-TH	ORPHA:550
HP:0011121	Abnormality of skin morphology	847	CAT	ORPHA:926
HP:0011121	Abnormality of skin morphology	5336	PLCG2	OMIM:614468
HP:0011121	Abnormality of skin morphology	987	LRBA	OMIM:614700
HP:0011121	Abnormality of skin morphology	23126	POGZ	ORPHA:468678
HP:0011121	Abnormality of skin morphology	25778	DSTYK	ORPHA:101003
HP:0011121	Abnormality of skin morphology	25778	DSTYK	OMIM:270750
HP:0011121	Abnormality of skin morphology	27022	FOXD3	OMIM:607836
HP:0011121	Abnormality of skin morphology	7852	CXCR4	ORPHA:51636
HP:0011121	Abnormality of skin morphology	28755	TRAC	OMIM:615387
HP:0011121	Abnormality of skin morphology	56259	CTNNBL1	OMIM:619846
HP:0011121	Abnormality of skin morphology	23065	EMC1	ORPHA:480898
HP:0011121	Abnormality of skin morphology	5205	ATP8B1	OMIM:243300
HP:0011121	Abnormality of skin morphology	8647	ABCB11	OMIM:601847
HP:0011121	Abnormality of skin morphology	28234	SLCO1B3	ORPHA:3111
HP:0011121	Abnormality of skin morphology	10599	SLCO1B1	ORPHA:3111
HP:0011121	Abnormality of skin morphology	6710	SPTB	OMIM:617948
HP:0011121	Abnormality of skin morphology	6521	SLC4A1	ORPHA:3202
HP:0011121	Abnormality of skin morphology	9780	PIEZO1	ORPHA:3202
HP:0011121	Abnormality of skin morphology	3783	KCNN4	ORPHA:3202
HP:0011121	Abnormality of skin morphology	6005	RHAG	ORPHA:3203
HP:0011121	Abnormality of skin morphology	3717	JAK2	OMIM:133100
HP:0011121	Abnormality of skin morphology	10019	SH2B3	OMIM:133100
HP:0011121	Abnormality of skin morphology	2057	EPOR	OMIM:133100
HP:0011121	Abnormality of skin morphology	7428	VHL	OMIM:263400
HP:0011121	Abnormality of skin morphology	4920	ROR2	OMIM:268310
HP:0011121	Abnormality of skin morphology	4920	ROR2	ORPHA:1507
HP:0011121	Abnormality of skin morphology	22827	PUF60	ORPHA:508498
HP:0011121	Abnormality of skin morphology	80267	EDEM3	OMIM:619493
HP:0011121	Abnormality of skin morphology	1028	CDKN1C	OMIM:130650
HP:0011121	Abnormality of skin morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011121	Abnormality of skin morphology	3481	IGF2	OMIM:130650
HP:0011121	Abnormality of skin morphology	3481	IGF2	ORPHA:231140
HP:0011121	Abnormality of skin morphology	3784	KCNQ1	OMIM:130650
HP:0011121	Abnormality of skin morphology	5290	PIK3CA	ORPHA:60040
HP:0011121	Abnormality of skin morphology	91754	NEK9	ORPHA:64754
HP:0011121	Abnormality of skin morphology	6804	STX1A	ORPHA:904
HP:0011121	Abnormality of skin morphology	7461	CLIP2	ORPHA:904
HP:0011121	Abnormality of skin morphology	84277	DNAJC30	ORPHA:904
HP:0011121	Abnormality of skin morphology	8468	FKBP6	ORPHA:904
HP:0011121	Abnormality of skin morphology	5982	RFC2	ORPHA:904
HP:0011121	Abnormality of skin morphology	2969	GTF2I	ORPHA:904
HP:0011121	Abnormality of skin morphology	3984	LIMK1	ORPHA:904
HP:0011121	Abnormality of skin morphology	9569	GTF2IRD1	ORPHA:904
HP:0011121	Abnormality of skin morphology	155382	VPS37D	ORPHA:904
HP:0011121	Abnormality of skin morphology	155368	METTL27	ORPHA:904
HP:0011121	Abnormality of skin morphology	114049	BUD23	ORPHA:904
HP:0011121	Abnormality of skin morphology	7458	EIF4H	ORPHA:904
HP:0011121	Abnormality of skin morphology	84163	GTF2IRD2	ORPHA:904
HP:0011121	Abnormality of skin morphology	9275	BCL7B	ORPHA:904
HP:0011121	Abnormality of skin morphology	26608	TBL2	ORPHA:904
HP:0011121	Abnormality of skin morphology	653361	NCF1	ORPHA:904
HP:0011121	Abnormality of skin morphology	135886	TMEM270	ORPHA:904
HP:0011121	Abnormality of skin morphology	51085	MLXIPL	ORPHA:904
HP:0011121	Abnormality of skin morphology	9031	BAZ1B	ORPHA:904
HP:0011121	Abnormality of skin morphology	2260	FGFR1	ORPHA:2396
HP:0011121	Abnormality of skin morphology	64359	NXN	ORPHA:1507
HP:0011121	Abnormality of skin morphology	2776	GNAQ	OMIM:163000
HP:0011121	Abnormality of skin morphology	2776	GNAQ	ORPHA:624
HP:0011121	Abnormality of skin morphology	7474	WNT5A	OMIM:180700
HP:0011121	Abnormality of skin morphology	1855	DVL1	OMIM:180700
HP:0011121	Abnormality of skin morphology	283120	H19	ORPHA:231140
HP:0011121	Abnormality of skin morphology	171023	ASXL1	ORPHA:97297
HP:0011121	Abnormality of skin morphology	171023	ASXL1	OMIM:605039
HP:0011121	Abnormality of skin morphology	1836	SLC26A2	OMIM:222600
HP:0011121	Abnormality of skin morphology	7043	TGFB3	OMIM:615582
HP:0011121	Abnormality of skin morphology	26040	SETBP1	OMIM:616078
HP:0011121	Abnormality of skin morphology	4591	TRIM37	OMIM:253250
HP:0011121	Abnormality of skin morphology	1545	CYP1B1	ORPHA:98976
HP:0011121	Abnormality of skin morphology	4053	LTBP2	ORPHA:98976
HP:0011121	Abnormality of skin morphology	4653	MYOC	ORPHA:98976
HP:0011121	Abnormality of skin morphology	7010	TEK	ORPHA:98976
HP:0011121	Abnormality of skin morphology	9126	SMC3	OMIM:610759
HP:0011121	Abnormality of skin morphology	57167	SALL4	ORPHA:233
HP:0011121	Abnormality of skin morphology	9935	MAFB	ORPHA:233
HP:0011121	Abnormality of skin morphology	1123	CHN1	ORPHA:233
HP:0011121	Abnormality of skin morphology	4254	KITLG	OMIM:145250
HP:0011121	Abnormality of skin morphology	4254	KITLG	ORPHA:895
HP:0011121	Abnormality of skin morphology	4157	MC1R	ORPHA:626
HP:0011121	Abnormality of skin morphology	1235	CCR6	ORPHA:220402
HP:0011121	Abnormality of skin morphology	79932	KIAA0319L	ORPHA:220402
HP:0011121	Abnormality of skin morphology	1490	CCN2	ORPHA:220402
HP:0011121	Abnormality of skin morphology	3663	IRF5	ORPHA:220402
HP:0011121	Abnormality of skin morphology	857	CAV1	ORPHA:220402
HP:0011121	Abnormality of skin morphology	3123	HLA-DRB1	ORPHA:220402
HP:0011121	Abnormality of skin morphology	11322	TMC6	ORPHA:302
HP:0011121	Abnormality of skin morphology	3574	IL7	ORPHA:302
HP:0011121	Abnormality of skin morphology	147138	TMC8	ORPHA:302
HP:0011121	Abnormality of skin morphology	10519	CIB1	ORPHA:302
HP:0011121	Abnormality of skin morphology	6925	TCF4	ORPHA:2896
HP:0011121	Abnormality of skin morphology	8517	IKBKG	ORPHA:464
HP:0011121	Abnormality of skin morphology	6663	SOX10	OMIM:613266
HP:0011121	Abnormality of skin morphology	6663	SOX10	OMIM:609136
HP:0011121	Abnormality of skin morphology	6663	SOX10	ORPHA:895
HP:0011121	Abnormality of skin morphology	6663	SOX10	ORPHA:163746
HP:0011121	Abnormality of skin morphology	6663	SOX10	OMIM:611584
HP:0011121	Abnormality of skin morphology	1908	EDN3	OMIM:613265
HP:0011121	Abnormality of skin morphology	6608	SMO	ORPHA:1553
HP:0011121	Abnormality of skin morphology	1910	EDNRB	OMIM:277580
HP:0011121	Abnormality of skin morphology	1910	EDNRB	ORPHA:895
HP:0011121	Abnormality of skin morphology	326	AIRE	ORPHA:3453
HP:0011121	Abnormality of skin morphology	6591	SNAI2	ORPHA:2884
HP:0011121	Abnormality of skin morphology	6591	SNAI2	ORPHA:895
HP:0011121	Abnormality of skin morphology	3815	KIT	ORPHA:2884
HP:0011121	Abnormality of skin morphology	695	BTK	ORPHA:47
HP:0011121	Abnormality of skin morphology	4286	MITF	ORPHA:895
HP:0011121	Abnormality of skin morphology	7299	TYR	ORPHA:895
HP:0011121	Abnormality of skin morphology	5077	PAX3	ORPHA:894
HP:0011121	Abnormality of skin morphology	5077	PAX3	OMIM:148820
HP:0011121	Abnormality of skin morphology	340024	SLC6A19	ORPHA:2116
HP:0011121	Abnormality of skin morphology	57393	CLTRN	ORPHA:2116
HP:0011121	Abnormality of skin morphology	5116	PCNT	ORPHA:2637
HP:0011121	Abnormality of skin morphology	2263	FGFR2	ORPHA:207
HP:0011121	Abnormality of skin morphology	2077	ERF	ORPHA:207
HP:0011121	Abnormality of skin morphology	2581	GALC	ORPHA:206436
HP:0011121	Abnormality of skin morphology	5660	PSAP	ORPHA:206436
HP:0011121	Abnormality of skin morphology	672	BRCA1	ORPHA:84
HP:0011121	Abnormality of skin morphology	10459	MAD2L2	ORPHA:84
HP:0011121	Abnormality of skin morphology	7516	XRCC2	ORPHA:84
HP:0011121	Abnormality of skin morphology	29089	UBE2T	ORPHA:84
HP:0011121	Abnormality of skin morphology	675	BRCA2	ORPHA:84
HP:0011121	Abnormality of skin morphology	55120	FANCL	ORPHA:84
HP:0011121	Abnormality of skin morphology	2177	FANCD2	ORPHA:84
HP:0011121	Abnormality of skin morphology	2175	FANCA	ORPHA:84
HP:0011121	Abnormality of skin morphology	2187	FANCB	ORPHA:84
HP:0011121	Abnormality of skin morphology	2176	FANCC	ORPHA:84
HP:0011121	Abnormality of skin morphology	2178	FANCE	ORPHA:84
HP:0011121	Abnormality of skin morphology	2188	FANCF	ORPHA:84
HP:0011121	Abnormality of skin morphology	2189	FANCG	ORPHA:84
HP:0011121	Abnormality of skin morphology	5888	RAD51	ORPHA:84
HP:0011121	Abnormality of skin morphology	5889	RAD51C	ORPHA:84
HP:0011121	Abnormality of skin morphology	55159	RFWD3	ORPHA:84
HP:0011121	Abnormality of skin morphology	83990	BRIP1	ORPHA:84
HP:0011121	Abnormality of skin morphology	57697	FANCM	ORPHA:84
HP:0011121	Abnormality of skin morphology	79728	PALB2	ORPHA:84
HP:0011121	Abnormality of skin morphology	84464	SLX4	ORPHA:84
HP:0011121	Abnormality of skin morphology	2072	ERCC4	ORPHA:84
HP:0011121	Abnormality of skin morphology	2072	ERCC4	ORPHA:910
HP:0011121	Abnormality of skin morphology	55215	FANCI	ORPHA:84
HP:0011121	Abnormality of skin morphology	1312	COMT	ORPHA:567
HP:0011121	Abnormality of skin morphology	221037	JMJD1C	ORPHA:567
HP:0011121	Abnormality of skin morphology	2812	GP1BB	ORPHA:567
HP:0011121	Abnormality of skin morphology	6239	RREB1	ORPHA:567
HP:0011121	Abnormality of skin morphology	6899	TBX1	ORPHA:567
HP:0011121	Abnormality of skin morphology	7290	HIRA	ORPHA:567
HP:0011121	Abnormality of skin morphology	9632	SEC24C	ORPHA:567
HP:0011121	Abnormality of skin morphology	7353	UFD1	ORPHA:567
HP:0011121	Abnormality of skin morphology	421	ARVCF	ORPHA:567
HP:0011121	Abnormality of skin morphology	54539	NDUFB11	ORPHA:2556
HP:0011121	Abnormality of skin morphology	3052	HCCS	ORPHA:2556
HP:0011121	Abnormality of skin morphology	10483	SEC23B	ORPHA:201
HP:0011121	Abnormality of skin morphology	5728	PTEN	ORPHA:201
HP:0011121	Abnormality of skin morphology	6390	SDHB	ORPHA:201
HP:0011121	Abnormality of skin morphology	6392	SDHD	ORPHA:201
HP:0011121	Abnormality of skin morphology	6391	SDHC	ORPHA:201
HP:0011121	Abnormality of skin morphology	207	AKT1	ORPHA:201
HP:0011121	Abnormality of skin morphology	205717	USF3	ORPHA:201
HP:0011121	Abnormality of skin morphology	100144748	KLLN	ORPHA:201
HP:0011121	Abnormality of skin morphology	117581	TWIST2	ORPHA:1807
HP:0011121	Abnormality of skin morphology	10058	ABCB6	ORPHA:241
HP:0011121	Abnormality of skin morphology	80169	CTC1	ORPHA:1775
HP:0011121	Abnormality of skin morphology	26277	TINF2	ORPHA:1775
HP:0011121	Abnormality of skin morphology	55651	NHP2	ORPHA:1775
HP:0011121	Abnormality of skin morphology	79650	USB1	ORPHA:1775
HP:0011121	Abnormality of skin morphology	55135	WRAP53	ORPHA:1775
HP:0011121	Abnormality of skin morphology	51750	RTEL1	ORPHA:1775
HP:0011121	Abnormality of skin morphology	4869	NPM1	ORPHA:1775
HP:0011121	Abnormality of skin morphology	7012	TERC	ORPHA:1775
HP:0011121	Abnormality of skin morphology	55505	NOP10	ORPHA:1775
HP:0011121	Abnormality of skin morphology	5073	PARN	ORPHA:1775
HP:0011121	Abnormality of skin morphology	7015	TERT	ORPHA:1775
HP:0011121	Abnormality of skin morphology	1736	DKC1	ORPHA:1775
HP:0011121	Abnormality of skin morphology	7298	TYMS	ORPHA:1775
HP:0011121	Abnormality of skin morphology	355	FAS	ORPHA:3437
HP:0011121	Abnormality of skin morphology	26191	PTPN22	ORPHA:3437
HP:0011121	Abnormality of skin morphology	2475	MTOR	ORPHA:457485
HP:0011121	Abnormality of skin morphology	84168	ANTXR1	ORPHA:2067
HP:0011121	Abnormality of skin morphology	1493	CTLA4	ORPHA:2584
HP:0011121	Abnormality of skin morphology	940	CD28	ORPHA:2584
HP:0011121	Abnormality of skin morphology	7133	TNFRSF1B	ORPHA:2584
HP:0011121	Abnormality of skin morphology	2068	ERCC2	ORPHA:910
HP:0011121	Abnormality of skin morphology	7507	XPA	ORPHA:910
HP:0011121	Abnormality of skin morphology	2071	ERCC3	ORPHA:910
HP:0011121	Abnormality of skin morphology	7508	XPC	ORPHA:910
HP:0011121	Abnormality of skin morphology	1643	DDB2	ORPHA:910
HP:0011121	Abnormality of skin morphology	2073	ERCC5	ORPHA:910
HP:0011121	Abnormality of skin morphology	1075	CTSC	ORPHA:678
HP:0011121	Abnormality of skin morphology	7703	PCGF2	OMIM:618371
HP:0011121	Abnormality of skin morphology	284058	KANSL1	ORPHA:363965
HP:0011121	Abnormality of skin morphology	284058	KANSL1	ORPHA:363958
HP:0011121	Abnormality of skin morphology	6794	STK11	OMIM:155600
HP:0011121	Abnormality of skin morphology	1019	CDK4	OMIM:609048
HP:0011121	Abnormality of skin morphology	2261	FGFR3	OMIM:162900
HP:0011121	Abnormality of skin morphology	4893	NRAS	OMIM:162900
HP:0011121	Abnormality of skin morphology	3265	HRAS	OMIM:162900
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:89838
HP:0011121	Abnormality of skin morphology	3861	KRT14	OMIM:131760
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:79400
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:69087
HP:0011121	Abnormality of skin morphology	3861	KRT14	OMIM:131900
HP:0011121	Abnormality of skin morphology	3861	KRT14	OMIM:131800
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:79396
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:79397
HP:0011121	Abnormality of skin morphology	3861	KRT14	ORPHA:79399
HP:0011121	Abnormality of skin morphology	55612	FERMT1	ORPHA:2908
HP:0011121	Abnormality of skin morphology	5339	PLEC	OMIM:226730
HP:0011121	Abnormality of skin morphology	5339	PLEC	OMIM:226670
HP:0011121	Abnormality of skin morphology	5339	PLEC	ORPHA:158684
HP:0011121	Abnormality of skin morphology	3691	ITGB4	OMIM:226730
HP:0011121	Abnormality of skin morphology	3691	ITGB4	ORPHA:158684
HP:0011121	Abnormality of skin morphology	3691	ITGB4	ORPHA:79402
HP:0011121	Abnormality of skin morphology	3691	ITGB4	ORPHA:251393
HP:0011121	Abnormality of skin morphology	3852	KRT5	OMIM:131760
HP:0011121	Abnormality of skin morphology	3852	KRT5	ORPHA:79400
HP:0011121	Abnormality of skin morphology	3852	KRT5	ORPHA:79396
HP:0011121	Abnormality of skin morphology	3852	KRT5	ORPHA:79397
HP:0011121	Abnormality of skin morphology	3852	KRT5	ORPHA:79399
HP:0011121	Abnormality of skin morphology	8481	OFD1	ORPHA:2750
HP:0011121	Abnormality of skin morphology	8481	OFD1	OMIM:311200
HP:0011121	Abnormality of skin morphology	56916	SMARCAD1	OMIM:129200
HP:0011121	Abnormality of skin morphology	56916	SMARCAD1	ORPHA:1658
HP:0011121	Abnormality of skin morphology	1540	CYLD	OMIM:605041
HP:0011121	Abnormality of skin morphology	3909	LAMA3	ORPHA:79402
HP:0011121	Abnormality of skin morphology	3909	LAMA3	OMIM:226700
HP:0011121	Abnormality of skin morphology	1308	COL17A1	ORPHA:79402
HP:0011121	Abnormality of skin morphology	1308	COL17A1	ORPHA:79406
HP:0011121	Abnormality of skin morphology	1308	COL17A1	ORPHA:251393
HP:0011121	Abnormality of skin morphology	3918	LAMC2	ORPHA:79402
HP:0011121	Abnormality of skin morphology	3918	LAMC2	OMIM:226700
HP:0011121	Abnormality of skin morphology	3914	LAMB3	ORPHA:79402
HP:0011121	Abnormality of skin morphology	3914	LAMB3	OMIM:226700
HP:0011121	Abnormality of skin morphology	1294	COL7A1	OMIM:604129
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:79408
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:79409
HP:0011121	Abnormality of skin morphology	1294	COL7A1	OMIM:226600
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:231568
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:89842
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:158673
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:89843
HP:0011121	Abnormality of skin morphology	1294	COL7A1	OMIM:131750
HP:0011121	Abnormality of skin morphology	1294	COL7A1	OMIM:131705
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:79410
HP:0011121	Abnormality of skin morphology	1294	COL7A1	ORPHA:79411
HP:0011121	Abnormality of skin morphology	4312	MMP1	ORPHA:79408
HP:0011121	Abnormality of skin morphology	4312	MMP1	OMIM:226600
HP:0011121	Abnormality of skin morphology	3977	LIFR	OMIM:601559
HP:0011121	Abnormality of skin morphology	5498	PPOX	ORPHA:79473
HP:0011121	Abnormality of skin morphology	5727	PTCH1	OMIM:109400
HP:0011121	Abnormality of skin morphology	285203	EOGT	OMIM:615297
HP:0011121	Abnormality of skin morphology	285203	EOGT	ORPHA:974
HP:0011121	Abnormality of skin morphology	4851	NOTCH1	OMIM:616028
HP:0011121	Abnormality of skin morphology	4851	NOTCH1	ORPHA:974
HP:0011121	Abnormality of skin morphology	3655	ITGA6	ORPHA:79403
HP:0011121	Abnormality of skin morphology	7020	TFAP2A	OMIM:113620
HP:0011121	Abnormality of skin morphology	284252	KCTD1	OMIM:181270
HP:0011121	Abnormality of skin morphology	1832	DSP	OMIM:609638
HP:0011121	Abnormality of skin morphology	3845	KRAS	OMIM:600268
HP:0011121	Abnormality of skin morphology	1349	COX7B	OMIM:300887
HP:0011121	Abnormality of skin morphology	6872	TAF1	OMIM:300966
HP:0011121	Abnormality of skin morphology	3313	HSPA9	OMIM:616854
HP:0011121	Abnormality of skin morphology	57572	DOCK6	OMIM:614219
HP:0011121	Abnormality of skin morphology	57572	DOCK6	ORPHA:974
HP:0011121	Abnormality of skin morphology	3516	RBPJ	OMIM:614814
HP:0011121	Abnormality of skin morphology	3516	RBPJ	ORPHA:974
HP:0011121	Abnormality of skin morphology	57514	ARHGAP31	ORPHA:974
HP:0011121	Abnormality of skin morphology	54567	DLL4	ORPHA:974
HP:0011121	Abnormality of skin morphology	526	ATP6V1B2	ORPHA:79499
HP:0011121	Abnormality of skin morphology	2165	F13B	ORPHA:331
HP:0011121	Abnormality of skin morphology	2162	F13A1	ORPHA:331
HP:0011121	Abnormality of skin morphology	5880	RAC2	ORPHA:183707
HP:0011121	Abnormality of skin morphology	5880	RAC2	OMIM:608203
HP:0011121	Abnormality of skin morphology	3689	ITGB2	OMIM:116920
HP:0011121	Abnormality of skin morphology	84196	USP48	ORPHA:96253
HP:0011121	Abnormality of skin morphology	7157	TP53	ORPHA:96253
HP:0011121	Abnormality of skin morphology	9101	USP8	ORPHA:96253
HP:0011121	Abnormality of skin morphology	9101	USP8	OMIM:219090
HP:0011121	Abnormality of skin morphology	64072	CDH23	ORPHA:96253
HP:0011121	Abnormality of skin morphology	2908	NR3C1	ORPHA:96253
HP:0011121	Abnormality of skin morphology	673	BRAF	ORPHA:96253
HP:0011121	Abnormality of skin morphology	546	ATRX	ORPHA:96253
HP:0011121	Abnormality of skin morphology	3835	KIF22	OMIM:603546
HP:0011121	Abnormality of skin morphology	1277	COL1A1	OMIM:619115
HP:0011121	Abnormality of skin morphology	1277	COL1A1	ORPHA:287
HP:0011121	Abnormality of skin morphology	1277	COL1A1	OMIM:130060
HP:0011121	Abnormality of skin morphology	5351	PLOD1	OMIM:225400
HP:0011121	Abnormality of skin morphology	5351	PLOD1	ORPHA:1900
HP:0011121	Abnormality of skin morphology	2629	GBA1	ORPHA:2072
HP:0011121	Abnormality of skin morphology	165	AEBP1	OMIM:618000
HP:0011121	Abnormality of skin morphology	4803	NGF	ORPHA:64752
HP:0011121	Abnormality of skin morphology	4914	NTRK1	ORPHA:64752
HP:0011121	Abnormality of skin morphology	4914	NTRK1	OMIM:256800
HP:0011121	Abnormality of skin morphology	2157	F8	ORPHA:169802
HP:0011121	Abnormality of skin morphology	4000	LMNA	OMIM:212112
HP:0011121	Abnormality of skin morphology	29940	DSE	OMIM:615539
HP:0011121	Abnormality of skin morphology	2006	ELN	OMIM:123700
HP:0011121	Abnormality of skin morphology	10516	FBLN5	OMIM:219100
HP:0011121	Abnormality of skin morphology	1289	COL5A1	ORPHA:287
HP:0011121	Abnormality of skin morphology	1289	COL5A1	OMIM:130000
HP:0011121	Abnormality of skin morphology	1290	COL5A2	ORPHA:287
HP:0011121	Abnormality of skin morphology	1303	COL12A1	ORPHA:536516
HP:0011121	Abnormality of skin morphology	7148	TNXB	OMIM:606408
HP:0011121	Abnormality of skin morphology	5054	SERPINE1	ORPHA:465
HP:0011121	Abnormality of skin morphology	715	C1R	OMIM:130080
HP:0011121	Abnormality of skin morphology	9509	ADAMTS2	OMIM:225410
HP:0011121	Abnormality of skin morphology	633	BGN	OMIM:300989
HP:0011121	Abnormality of skin morphology	1278	COL1A2	ORPHA:230851
HP:0011121	Abnormality of skin morphology	1278	COL1A2	OMIM:619120
HP:0011121	Abnormality of skin morphology	4921	DDR2	OMIM:618175
HP:0011121	Abnormality of skin morphology	3075	CFH	ORPHA:244242
HP:0011121	Abnormality of skin morphology	3426	CFI	ORPHA:244242
HP:0011121	Abnormality of skin morphology	4179	CD46	ORPHA:244242
HP:0011121	Abnormality of skin morphology	101101692	HELLPAR	ORPHA:244242
HP:0011121	Abnormality of skin morphology	11280	SCN11A	OMIM:615548
HP:0011121	Abnormality of skin morphology	9049	AIP	OMIM:219090
HP:0011121	Abnormality of skin morphology	2697	GJA1	ORPHA:1010
HP:0011121	Abnormality of skin morphology	9731	CEP104	OMIM:619988
HP:0011121	Abnormality of skin morphology	10558	SPTLC1	ORPHA:36386
HP:0011121	Abnormality of skin morphology	25923	ATL3	ORPHA:36386
HP:0011121	Abnormality of skin morphology	9517	SPTLC2	ORPHA:36386
HP:0011121	Abnormality of skin morphology	51062	ATL1	ORPHA:36386
HP:0011121	Abnormality of skin morphology	4313	MMP2	ORPHA:371428
HP:0011121	Abnormality of skin morphology	4323	MMP14	ORPHA:371428
HP:0011121	Abnormality of skin morphology	4927	NUP88	ORPHA:994
HP:0011121	Abnormality of skin morphology	7846	TUBA1A	ORPHA:994
HP:0011121	Abnormality of skin morphology	4654	MYOD1	ORPHA:994
HP:0011121	Abnormality of skin morphology	4593	MUSK	ORPHA:994
HP:0011121	Abnormality of skin morphology	5913	RAPSN	ORPHA:994
HP:0011121	Abnormality of skin morphology	6572	SLC18A3	ORPHA:994
HP:0011121	Abnormality of skin morphology	285489	DOK7	ORPHA:994
HP:0011121	Abnormality of skin morphology	57538	ALPK3	OMIM:618052
HP:0011121	Abnormality of skin morphology	3339	HSPG2	OMIM:224410
HP:0011121	Abnormality of skin morphology	3339	HSPG2	ORPHA:1865
HP:0011121	Abnormality of skin morphology	55640	FLVCR2	OMIM:225790
HP:0011121	Abnormality of skin morphology	60681	FKBP10	OMIM:259450
HP:0011121	Abnormality of skin morphology	60681	FKBP10	ORPHA:2771
HP:0011121	Abnormality of skin morphology	5352	PLOD2	ORPHA:2771
HP:0011121	Abnormality of skin morphology	5352	PLOD2	OMIM:609220
HP:0011121	Abnormality of skin morphology	26227	PHGDH	OMIM:256520
HP:0011121	Abnormality of skin morphology	10082	GPC6	OMIM:258315
HP:0011121	Abnormality of skin morphology	1146	CHRNG	OMIM:265000
HP:0011121	Abnormality of skin morphology	1146	CHRNG	ORPHA:2990
HP:0011121	Abnormality of skin morphology	1947	EFNB1	OMIM:304110
HP:0011121	Abnormality of skin morphology	1147	CHUK	OMIM:619339
HP:0011121	Abnormality of skin morphology	57211	ADGRG6	OMIM:616503
HP:0011121	Abnormality of skin morphology	4621	MYH3	ORPHA:2990
HP:0011121	Abnormality of skin morphology	54101	RIPK4	OMIM:263650
HP:0011121	Abnormality of skin morphology	23474	ETHE1	ORPHA:51188
HP:0011121	Abnormality of skin morphology	23474	ETHE1	OMIM:602473
HP:0011121	Abnormality of skin morphology	8518	ELP1	OMIM:223900
HP:0011121	Abnormality of skin morphology	8518	ELP1	ORPHA:1764
HP:0011121	Abnormality of skin morphology	6197	RPS6KA3	OMIM:303600
HP:0011121	Abnormality of skin morphology	189	AGXT	OMIM:259900
HP:0011121	Abnormality of skin morphology	2517	FUCA1	ORPHA:349
HP:0011121	Abnormality of skin morphology	4598	MVK	ORPHA:343
HP:0011121	Abnormality of skin morphology	11277	TREX1	OMIM:225750
HP:0011121	Abnormality of skin morphology	11277	TREX1	ORPHA:51
HP:0011121	Abnormality of skin morphology	10801	SEPTIN9	ORPHA:2901
HP:0011121	Abnormality of skin morphology	10535	RNASEH2A	ORPHA:51
HP:0011121	Abnormality of skin morphology	84153	RNASEH2C	ORPHA:51
HP:0011121	Abnormality of skin morphology	25939	SAMHD1	ORPHA:51
HP:0011121	Abnormality of skin morphology	79621	RNASEH2B	ORPHA:51
HP:0011121	Abnormality of skin morphology	103	ADAR	ORPHA:51
HP:0011121	Abnormality of skin morphology	100147744	RNU7-1	ORPHA:51
HP:0011121	Abnormality of skin morphology	134353	LSM11	ORPHA:51
HP:0011121	Abnormality of skin morphology	64135	IFIH1	ORPHA:51
HP:0011121	Abnormality of skin morphology	4088	SMAD3	ORPHA:284984
HP:0011121	Abnormality of skin morphology	4088	SMAD3	OMIM:613795
HP:0011121	Abnormality of skin morphology	8450	CUL4B	OMIM:300354
HP:0011121	Abnormality of skin morphology	23013	SPEN	OMIM:619312
HP:0011121	Abnormality of skin morphology	2200	FBN1	OMIM:154700
HP:0011121	Abnormality of skin morphology	2200	FBN1	OMIM:608328
HP:0011121	Abnormality of skin morphology	2200	FBN1	OMIM:604308
HP:0011121	Abnormality of skin morphology	1315	COPB1	OMIM:619255
HP:0011121	Abnormality of skin morphology	4087	SMAD2	OMIM:619656
HP:0011121	Abnormality of skin morphology	7048	TGFBR2	OMIM:610168
HP:0011121	Abnormality of skin morphology	7048	TGFBR2	ORPHA:60030
HP:0011121	Abnormality of skin morphology	84133	ZNRF3	ORPHA:1501
HP:0011121	Abnormality of skin morphology	1499	CTNNB1	ORPHA:1501
HP:0011121	Abnormality of skin morphology	1029	CDKN2A	ORPHA:1501
HP:0011121	Abnormality of skin morphology	4015	LOX	OMIM:617168
HP:0011121	Abnormality of skin morphology	1742	DLG4	OMIM:618793
HP:0011121	Abnormality of skin morphology	7046	TGFBR1	ORPHA:60030
HP:0011121	Abnormality of skin morphology	10526	IPO8	ORPHA:60030
HP:0011121	Abnormality of skin morphology	5167	ENPP1	ORPHA:758
HP:0011121	Abnormality of skin morphology	368	ABCC6	ORPHA:758
HP:0011121	Abnormality of skin morphology	7042	TGFB2	OMIM:614816
HP:0011121	Abnormality of skin morphology	3248	HPGD	ORPHA:1525
HP:0011121	Abnormality of skin morphology	1798	DPAGT1	ORPHA:86309
HP:0011121	Abnormality of skin morphology	411	ARSB	OMIM:253200
HP:0011121	Abnormality of skin morphology	65082	VPS33A	OMIM:617303
HP:0011121	Abnormality of skin morphology	65082	VPS33A	ORPHA:505248
HP:0011121	Abnormality of skin morphology	2720	GLB1	ORPHA:79255
HP:0011121	Abnormality of skin morphology	6578	SLCO2A1	OMIM:614441
HP:0011121	Abnormality of skin morphology	6578	SLCO2A1	OMIM:167100
HP:0011121	Abnormality of skin morphology	6578	SLCO2A1	ORPHA:2796
HP:0011121	Abnormality of skin morphology	81794	ADAMTS10	ORPHA:3449
HP:0011121	Abnormality of skin morphology	81794	ADAMTS10	OMIM:277600
HP:0011121	Abnormality of skin morphology	5297	PI4KA	ORPHA:436252
HP:0011121	Abnormality of skin morphology	57217	TTC7A	ORPHA:436252
HP:0011121	Abnormality of skin morphology	6261	RYR1	ORPHA:324581
HP:0011121	Abnormality of skin morphology	51574	LARP7	ORPHA:319671
HP:0011121	Abnormality of skin morphology	4853	NOTCH2	ORPHA:955
HP:0011121	Abnormality of skin morphology	4054	LTBP3	OMIM:617809
HP:0011121	Abnormality of skin morphology	1291	COL6A1	ORPHA:610
HP:0011121	Abnormality of skin morphology	1292	COL6A2	ORPHA:610
HP:0011121	Abnormality of skin morphology	1293	COL6A3	ORPHA:610
HP:0011121	Abnormality of skin morphology	55033	FKBP14	OMIM:614557
HP:0011121	Abnormality of skin morphology	55033	FKBP14	ORPHA:300179
HP:0011121	Abnormality of skin morphology	146206	CARMIL2	OMIM:618131
HP:0011121	Abnormality of skin morphology	667	DST	OMIM:615425
HP:0011121	Abnormality of skin morphology	128178	EDARADD	OMIM:224900
HP:0011121	Abnormality of skin morphology	10913	EDAR	OMIM:224900
HP:0011121	Abnormality of skin morphology	1896	EDA	OMIM:305100
HP:0011121	Abnormality of skin morphology	56992	KIF15	ORPHA:261323
HP:0011121	Abnormality of skin morphology	255738	PCSK9	OMIM:603776
HP:0011121	Abnormality of skin morphology	338	APOB	OMIM:144010
HP:0011121	Abnormality of skin morphology	336	APOA2	OMIM:143890
HP:0011121	Abnormality of skin morphology	2053	EPHX2	OMIM:143890
HP:0011121	Abnormality of skin morphology	10842	PPP1R17	OMIM:143890
HP:0011121	Abnormality of skin morphology	2690	GHR	OMIM:143890
HP:0011121	Abnormality of skin morphology	3949	LDLR	OMIM:143890
HP:0011121	Abnormality of skin morphology	2538	G6PC1	OMIM:232200
HP:0011121	Abnormality of skin morphology	1593	CYP27A1	OMIM:213700
HP:0011121	Abnormality of skin morphology	7274	TTPA	OMIM:277460
HP:0011121	Abnormality of skin morphology	2542	SLC37A4	OMIM:232220
HP:0011121	Abnormality of skin morphology	2542	SLC37A4	OMIM:232240
HP:0011121	Abnormality of skin morphology	2542	SLC37A4	ORPHA:79259
HP:0011121	Abnormality of skin morphology	64241	ABCG8	OMIM:210250
HP:0011121	Abnormality of skin morphology	335	APOA1	ORPHA:425
HP:0011121	Abnormality of skin morphology	19	ABCA1	ORPHA:425
HP:0011121	Abnormality of skin morphology	9853	RUSC2	OMIM:617773
HP:0011121	Abnormality of skin morphology	5063	PAK3	OMIM:300558
HP:0011121	Abnormality of skin morphology	55628	ZNF407	OMIM:619557
HP:0011121	Abnormality of skin morphology	11133	KPTN	OMIM:615637
HP:0011121	Abnormality of skin morphology	116931	MED12L	OMIM:618872
HP:0011121	Abnormality of skin morphology	3021	H3-3B	OMIM:619721
HP:0011121	Abnormality of skin morphology	7025	NR2F1	OMIM:615722
HP:0011121	Abnormality of skin morphology	1822	ATN1	OMIM:618494
HP:0011121	Abnormality of skin morphology	3188	HNRNPH2	OMIM:300986
HP:0011121	Abnormality of skin morphology	94	ACVRL1	OMIM:600376
HP:0011121	Abnormality of skin morphology	161742	SPRED1	OMIM:611431
HP:0011121	Abnormality of skin morphology	7994	KAT6A	OMIM:616268
HP:0011121	Abnormality of skin morphology	4935	GPR143	ORPHA:54
HP:0011121	Abnormality of skin morphology	1001	CDH3	ORPHA:1573
HP:0011121	Abnormality of skin morphology	5500	PPP1CB	OMIM:617506
HP:0011121	Abnormality of skin morphology	8314	BAP1	ORPHA:618
HP:0011121	Abnormality of skin morphology	4255	MGMT	ORPHA:618
HP:0011121	Abnormality of skin morphology	54386	TERF2IP	ORPHA:618
HP:0011121	Abnormality of skin morphology	25913	POT1	ORPHA:618
HP:0011121	Abnormality of skin morphology	114803	MYSM1	ORPHA:508542
HP:0011121	Abnormality of skin morphology	5155	PDGFB	ORPHA:31112
HP:0011121	Abnormality of skin morphology	23592	LEMD3	ORPHA:1879
HP:0011121	Abnormality of skin morphology	23592	LEMD3	ORPHA:94063
HP:0011121	Abnormality of skin morphology	23592	LEMD3	ORPHA:1306
HP:0011121	Abnormality of skin morphology	5745	PTH1R	ORPHA:296
HP:0011121	Abnormality of skin morphology	3418	IDH2	ORPHA:296
HP:0011121	Abnormality of skin morphology	3418	IDH2	ORPHA:163634
HP:0011121	Abnormality of skin morphology	8091	HMGA2	ORPHA:94063
HP:0011121	Abnormality of skin morphology	8091	HMGA2	ORPHA:99971
HP:0011121	Abnormality of skin morphology	567	B2M	OMIM:241600
HP:0011121	Abnormality of skin morphology	427	ASAH1	OMIM:228000
HP:0011121	Abnormality of skin morphology	83706	FERMT3	OMIM:612840
HP:0011121	Abnormality of skin morphology	4952	OCRL	OMIM:309000
HP:0011121	Abnormality of skin morphology	4982	TNFRSF11B	ORPHA:2801
HP:0011121	Abnormality of skin morphology	8792	TNFRSF11A	ORPHA:2801
HP:0011121	Abnormality of skin morphology	3832	KIF11	ORPHA:2526
HP:0011121	Abnormality of skin morphology	2521	FUS	ORPHA:99967
HP:0011121	Abnormality of skin morphology	1649	DDIT3	ORPHA:99967
HP:0011121	Abnormality of skin morphology	90	ACVR1	ORPHA:337
HP:0011121	Abnormality of skin morphology	1893	ECM1	ORPHA:530
HP:0011121	Abnormality of skin morphology	4854	NOTCH3	ORPHA:2591
HP:0011121	Abnormality of skin morphology	3593	IL12B	ORPHA:3287
HP:0011121	Abnormality of skin morphology	3106	HLA-B	ORPHA:3287
HP:0011121	Abnormality of skin morphology	3106	HLA-B	ORPHA:117
HP:0011121	Abnormality of skin morphology	6945	MLX	ORPHA:3287
HP:0011121	Abnormality of skin morphology	149233	IL23R	ORPHA:117
HP:0011121	Abnormality of skin morphology	6775	STAT4	ORPHA:117
HP:0011121	Abnormality of skin morphology	3586	IL10	ORPHA:117
HP:0011121	Abnormality of skin morphology	1230	CCR1	ORPHA:117
HP:0011121	Abnormality of skin morphology	3592	IL12A	ORPHA:117
HP:0011121	Abnormality of skin morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011121	Abnormality of skin morphology	7099	TLR4	ORPHA:117
HP:0011121	Abnormality of skin morphology	3459	IFNGR1	ORPHA:117
HP:0011121	Abnormality of skin morphology	720	C4A	ORPHA:117
HP:0011121	Abnormality of skin morphology	337867	UBAC2	ORPHA:117
HP:0011121	Abnormality of skin morphology	51752	ERAP1	ORPHA:117
HP:0011121	Abnormality of skin morphology	8302	KLRC4	ORPHA:117
HP:0011121	Abnormality of skin morphology	5308	PITX2	ORPHA:782
HP:0011121	Abnormality of skin morphology	2296	FOXC1	ORPHA:782
HP:0011121	Abnormality of skin morphology	6535	SLC6A8	ORPHA:52503
HP:0011121	Abnormality of skin morphology	26281	FGF20	OMIM:615721
HP:0011121	Abnormality of skin morphology	79087	ALG12	ORPHA:79324
HP:0011121	Abnormality of skin morphology	2879	GPX4	OMIM:250220
HP:0011121	Abnormality of skin morphology	54463	RETREG1	OMIM:201300
HP:0011121	Abnormality of skin morphology	65125	WNK1	OMIM:201300
HP:0011121	Abnormality of skin morphology	547	KIF1A	OMIM:201300
HP:0011121	Abnormality of skin morphology	1053	CEBPE	OMIM:260570
HP:0011121	Abnormality of skin morphology	3764	KCNJ8	ORPHA:1517
HP:0011121	Abnormality of skin morphology	10559	SLC35A1	ORPHA:238459
HP:0011121	Abnormality of skin morphology	10559	SLC35A1	OMIM:603585
HP:0011121	Abnormality of skin morphology	2048	EPHB2	OMIM:618462
HP:0011121	Abnormality of skin morphology	9213	XPR1	ORPHA:1980
HP:0011121	Abnormality of skin morphology	57462	MYORG	ORPHA:1980
HP:0011121	Abnormality of skin morphology	6575	SLC20A2	ORPHA:1980
HP:0011121	Abnormality of skin morphology	58494	JAM2	ORPHA:1980
HP:0011121	Abnormality of skin morphology	83932	SPRTN	OMIM:616200
HP:0011121	Abnormality of skin morphology	7486	WRN	ORPHA:902
HP:0011121	Abnormality of skin morphology	472	ATM	ORPHA:100
HP:0011121	Abnormality of skin morphology	79991	STN1	OMIM:617341
HP:0011121	Abnormality of skin morphology	6117	RPA1	OMIM:619767
HP:0011121	Abnormality of skin morphology	4193	MDM2	OMIM:618681
HP:0011121	Abnormality of skin morphology	79184	BRCC3	ORPHA:280679
HP:0011121	Abnormality of skin morphology	4507	MTAP	OMIM:112250
HP:0011121	Abnormality of skin morphology	8884	SLC5A6	OMIM:619903
HP:0011121	Abnormality of skin morphology	5696	PSMB8	OMIM:256040
HP:0011121	Abnormality of skin morphology	256297	PTF1A	OMIM:609069
HP:0011121	Abnormality of skin morphology	6514	SLC2A2	OMIM:227810
HP:0011121	Abnormality of skin morphology	3480	IGF1R	OMIM:270450
HP:0011121	Abnormality of skin morphology	998	CDC42	ORPHA:487796
HP:0011121	Abnormality of skin morphology	998	CDC42	OMIM:616737
HP:0011121	Abnormality of skin morphology	3008	H1-4	OMIM:617537
HP:0011121	Abnormality of skin morphology	1854	DUT	OMIM:620044
HP:0011121	Abnormality of skin morphology	64840	PORCN	OMIM:305600
HP:0011121	Abnormality of skin morphology	64840	PORCN	ORPHA:2092
HP:0011121	Abnormality of skin morphology	10269	ZMPSTE24	OMIM:608612
HP:0011121	Abnormality of skin morphology	10269	ZMPSTE24	ORPHA:740
HP:0011121	Abnormality of skin morphology	10269	ZMPSTE24	ORPHA:90154
HP:0011121	Abnormality of skin morphology	10269	ZMPSTE24	ORPHA:1662
HP:0011121	Abnormality of skin morphology	54800	KLHL24	OMIM:617294
HP:0011121	Abnormality of skin morphology	9401	RECQL4	ORPHA:221016
HP:0011121	Abnormality of skin morphology	9401	RECQL4	OMIM:268400
HP:0011121	Abnormality of skin morphology	9401	RECQL4	OMIM:218600
HP:0011121	Abnormality of skin morphology	1718	DHCR24	ORPHA:35107
HP:0011121	Abnormality of skin morphology	5159	PDGFRB	OMIM:601812
HP:0011121	Abnormality of skin morphology	4256	MGP	ORPHA:85202
HP:0011121	Abnormality of skin morphology	54345	SOX18	ORPHA:69735
HP:0011121	Abnormality of skin morphology	8626	TP63	OMIM:103285
HP:0011121	Abnormality of skin morphology	10651	MTX2	ORPHA:90153
HP:0011121	Abnormality of skin morphology	65057	ACD	ORPHA:3322
HP:0011121	Abnormality of skin morphology	5424	POLD1	OMIM:615381
HP:0011121	Abnormality of skin morphology	64682	ANAPC1	ORPHA:221008
HP:0011121	Abnormality of skin morphology	3098	HK1	OMIM:618547
HP:0011121	Abnormality of skin morphology	80036	TRPM3	OMIM:620224
HP:0011121	Abnormality of skin morphology	286	ANK1	ORPHA:251066
HP:0011121	Abnormality of skin morphology	145258	GSC	OMIM:602471
HP:0011121	Abnormality of skin morphology	1482	NKX2-5	ORPHA:3303
HP:0011121	Abnormality of skin morphology	1482	NKX2-5	OMIM:187500
HP:0011121	Abnormality of skin morphology	137814	NKX2-6	ORPHA:3303
HP:0011121	Abnormality of skin morphology	23414	ZFPM2	ORPHA:3303
HP:0011121	Abnormality of skin morphology	23414	ZFPM2	OMIM:187500
HP:0011121	Abnormality of skin morphology	2626	GATA4	ORPHA:3303
HP:0011121	Abnormality of skin morphology	2626	GATA4	OMIM:187500
HP:0011121	Abnormality of skin morphology	3791	KDR	ORPHA:3303
HP:0011121	Abnormality of skin morphology	2627	GATA6	ORPHA:3303
HP:0011121	Abnormality of skin morphology	2627	GATA6	OMIM:187500
HP:0011121	Abnormality of skin morphology	2657	GDF1	ORPHA:3303
HP:0011121	Abnormality of skin morphology	140628	GATA5	ORPHA:3303
HP:0011121	Abnormality of skin morphology	10370	CITED2	ORPHA:3303
HP:0011121	Abnormality of skin morphology	3190	HNRNPK	ORPHA:453504
HP:0011121	Abnormality of skin morphology	3190	HNRNPK	ORPHA:352665
HP:0011121	Abnormality of skin morphology	23405	DICER1	OMIM:618272
HP:0011121	Abnormality of skin morphology	51715	RAB23	OMIM:201000
HP:0011121	Abnormality of skin morphology	27031	NPHP3	OMIM:208540
HP:0011121	Abnormality of skin morphology	5075	PAX1	OMIM:615560
HP:0011121	Abnormality of skin morphology	5075	PAX1	ORPHA:2792
HP:0011121	Abnormality of skin morphology	23384	SPECC1L	ORPHA:1519
HP:0011121	Abnormality of skin morphology	23384	SPECC1L	OMIM:145420
HP:0011121	Abnormality of skin morphology	3759	KCNJ2	OMIM:170390
HP:0011121	Abnormality of skin morphology	9451	EIF2AK3	OMIM:226980
HP:0011121	Abnormality of skin morphology	4281	MID1	ORPHA:2745
HP:0011121	Abnormality of skin morphology	58499	ZNF462	OMIM:618619
HP:0011121	Abnormality of skin morphology	55784	MCTP2	ORPHA:1596
HP:0011121	Abnormality of skin morphology	10804	GJB6	ORPHA:477
HP:0011121	Abnormality of skin morphology	2706	GJB2	ORPHA:477
HP:0011121	Abnormality of skin morphology	2706	GJB2	OMIM:602540
HP:0011121	Abnormality of skin morphology	126695	KDF1	OMIM:617337
HP:0011121	Abnormality of skin morphology	387	RHOA	OMIM:618727
HP:0011121	Abnormality of skin morphology	2074	ERCC6	OMIM:214150
HP:0011121	Abnormality of skin morphology	23556	PIGN	ORPHA:280633
HP:0011121	Abnormality of skin morphology	7737	RNF113A	OMIM:300953
HP:0011121	Abnormality of skin morphology	8425	LTBP4	OMIM:613177
HP:0011121	Abnormality of skin morphology	10273	STUB1	ORPHA:412057
HP:0011121	Abnormality of skin morphology	84823	LMNB2	ORPHA:79087
HP:0011121	Abnormality of skin morphology	23404	EXOSC2	OMIM:617763
HP:0011121	Abnormality of skin morphology	7319	UBE2A	OMIM:300860
HP:0011121	Abnormality of skin morphology	9419	CRIPT	OMIM:615789
HP:0011121	Abnormality of skin morphology	10060	ABCC9	OMIM:619719
HP:0011121	Abnormality of skin morphology	4683	NBN	OMIM:251260
HP:0011121	Abnormality of skin morphology	1026	CDKN1A	ORPHA:652
HP:0011121	Abnormality of skin morphology	1030	CDKN2B	ORPHA:652
HP:0011121	Abnormality of skin morphology	1031	CDKN2C	ORPHA:652
HP:0011121	Abnormality of skin morphology	23545	ATP6V0A2	ORPHA:357074
HP:0011121	Abnormality of skin morphology	523	ATP6V1A	ORPHA:357074
HP:0011121	Abnormality of skin morphology	529	ATP6V1E1	ORPHA:357074
HP:0011121	Abnormality of skin morphology	84231	TRAF7	OMIM:618164
HP:0011121	Abnormality of skin morphology	54496	PRMT7	OMIM:617157
HP:0011121	Abnormality of skin morphology	8260	NAA10	OMIM:300855
HP:0011121	Abnormality of skin morphology	5832	ALDH18A1	ORPHA:90348
HP:0011121	Abnormality of skin morphology	55165	CEP55	OMIM:236500
HP:0011121	Abnormality of skin morphology	6913	TBX15	ORPHA:93333
HP:0011121	Abnormality of skin morphology	55593	OTUD5	OMIM:301056
HP:0011121	Abnormality of skin morphology	9896	FIG4	OMIM:216340
HP:0011121	Abnormality of skin morphology	9896	FIG4	ORPHA:3472
HP:0011121	Abnormality of skin morphology	56945	MRPS22	OMIM:611719
HP:0011121	Abnormality of skin morphology	79848	CSPP1	ORPHA:397715
HP:0011121	Abnormality of skin morphology	9786	KIAA0586	ORPHA:397715
HP:0011121	Abnormality of skin morphology	10682	EBP	OMIM:300960
HP:0011121	Abnormality of skin morphology	55697	VAC14	ORPHA:3472
HP:0011121	Abnormality of skin morphology	4716	NDUFB10	OMIM:619003
HP:0011121	Abnormality of skin morphology	285590	SH3PXD2B	OMIM:249420
HP:0011121	Abnormality of skin morphology	22884	WDR37	OMIM:618652
HP:0011121	Abnormality of skin morphology	8621	CDK13	OMIM:617360
HP:0011121	Abnormality of skin morphology	388015	RTL1	ORPHA:254528
HP:0011121	Abnormality of skin morphology	388015	RTL1	ORPHA:96334
HP:0011121	Abnormality of skin morphology	8788	DLK1	ORPHA:254528
HP:0011121	Abnormality of skin morphology	8788	DLK1	ORPHA:96334
HP:0011121	Abnormality of skin morphology	55384	MEG3	ORPHA:254528
HP:0011121	Abnormality of skin morphology	55384	MEG3	ORPHA:96334
HP:0011121	Abnormality of skin morphology	51021	MRPS16	OMIM:610498
HP:0011121	Abnormality of skin morphology	124997	WDR81	OMIM:617967
HP:0011121	Abnormality of skin morphology	2683	B4GALT1	ORPHA:79332
HP:0011121	Abnormality of skin morphology	5189	PEX1	OMIM:214100
HP:0011121	Abnormality of skin morphology	26053	AUTS2	OMIM:615834
HP:0011121	Abnormality of skin morphology	26053	AUTS2	ORPHA:352490
HP:0011121	Abnormality of skin morphology	63895	PIEZO2	OMIM:108145
HP:0011121	Abnormality of skin morphology	8985	PLOD3	OMIM:612394
HP:0011121	Abnormality of skin morphology	57479	PRR12	OMIM:619539
HP:0011121	Abnormality of skin morphology	283209	PGM2L1	OMIM:620191
HP:0011121	Abnormality of skin morphology	80816	ASXL3	OMIM:615485
HP:0011121	Abnormality of skin morphology	1806	DPYD	ORPHA:1675
HP:0011121	Abnormality of skin morphology	200734	SPRED2	OMIM:619745
HP:0011121	Abnormality of skin morphology	8241	RBM10	OMIM:311900
HP:0011121	Abnormality of skin morphology	10664	CTCF	ORPHA:363611
HP:0011121	Abnormality of skin morphology	23446	SLC44A1	OMIM:618868
HP:0011121	Abnormality of skin morphology	5626	PROP1	ORPHA:226307
HP:0011121	Abnormality of skin morphology	89884	LHX4	ORPHA:226307
HP:0011121	Abnormality of skin morphology	8022	LHX3	ORPHA:226307
HP:0011121	Abnormality of skin morphology	8820	HESX1	ORPHA:226307
HP:0011121	Abnormality of skin morphology	7167	TPI1	OMIM:615512
HP:0011121	Abnormality of skin morphology	8573	CASK	OMIM:300908
HP:0011121	Abnormality of skin morphology	2539	G6PD	OMIM:300908
HP:0011121	Abnormality of skin morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011121	Abnormality of skin morphology	2584	GALK1	OMIM:230200
HP:0011121	Abnormality of skin morphology	23600	AMACR	OMIM:214950
HP:0011121	Abnormality of skin morphology	8405	SPOP	OMIM:618828
HP:0011121	Abnormality of skin morphology	6609	SMPD1	OMIM:257200
HP:0011121	Abnormality of skin morphology	6718	AKR1D1	ORPHA:79303
HP:0011121	Abnormality of skin morphology	123264	SLC51B	OMIM:619481
HP:0011121	Abnormality of skin morphology	5631	PRPS1	ORPHA:423479
HP:0011121	Abnormality of skin morphology	200894	ARL13B	OMIM:612291
HP:0011121	Abnormality of skin morphology	10525	HYOU1	OMIM:233600
HP:0011121	Abnormality of skin morphology	50506	DUOX2	ORPHA:226316
HP:0011121	Abnormality of skin morphology	50506	DUOX2	ORPHA:95716
HP:0011121	Abnormality of skin morphology	5192	PEX10	OMIM:614871
HP:0011121	Abnormality of skin morphology	55904	KMT2E	OMIM:618512
HP:0011121	Abnormality of skin morphology	182	JAG1	OMIM:118450
HP:0011121	Abnormality of skin morphology	25973	PARS2	OMIM:618437
HP:0011121	Abnormality of skin morphology	11093	ADAMTS13	OMIM:274150
HP:0011121	Abnormality of skin morphology	7252	TSHB	ORPHA:90674
HP:0011121	Abnormality of skin morphology	9095	TBX19	ORPHA:199296
HP:0011121	Abnormality of skin morphology	10577	NPC2	OMIM:607625
HP:0011121	Abnormality of skin morphology	6554	SLC10A1	OMIM:619256
HP:0011121	Abnormality of skin morphology	55898	UNC45A	OMIM:619377
HP:0011121	Abnormality of skin morphology	79989	IFT56	OMIM:619534
HP:0011121	Abnormality of skin morphology	537	ATP6AP1	OMIM:300972
HP:0011121	Abnormality of skin morphology	130589	GALM	OMIM:618881
HP:0011121	Abnormality of skin morphology	8565	YARS1	OMIM:619418
HP:0011121	Abnormality of skin morphology	405753	DUOXA2	ORPHA:95716
HP:0011121	Abnormality of skin morphology	6528	SLC5A5	ORPHA:95716
HP:0011121	Abnormality of skin morphology	7038	TG	ORPHA:95716
HP:0011121	Abnormality of skin morphology	7173	TPO	ORPHA:95716
HP:0011121	Abnormality of skin morphology	389434	IYD	ORPHA:95716
HP:0011121	Abnormality of skin morphology	4358	MPV17	OMIM:256810
HP:0011121	Abnormality of skin morphology	84317	CCDC115	OMIM:616828
HP:0011121	Abnormality of skin morphology	4864	NPC1	OMIM:257220
HP:0011121	Abnormality of skin morphology	7201	TRHR	ORPHA:99832
HP:0011121	Abnormality of skin morphology	5313	PKLR	ORPHA:766
HP:0011121	Abnormality of skin morphology	2035	EPB41	ORPHA:288
HP:0011121	Abnormality of skin morphology	2995	GYPC	ORPHA:288
HP:0011121	Abnormality of skin morphology	6708	SPTA1	ORPHA:288
HP:0011121	Abnormality of skin morphology	6567	SLC16A2	ORPHA:59
HP:0011121	Abnormality of skin morphology	2688	GH1	OMIM:262400
HP:0011121	Abnormality of skin morphology	146059	CDAN1	OMIM:224120
HP:0011121	Abnormality of skin morphology	54658	UGT1A1	ORPHA:79234
HP:0011121	Abnormality of skin morphology	54658	UGT1A1	ORPHA:79235
HP:0011121	Abnormality of skin morphology	170302	ARX	ORPHA:94083
HP:0011121	Abnormality of skin morphology	55275	VPS53	OMIM:615851
HP:0011121	Abnormality of skin morphology	10093	ARPC4	OMIM:620141
HP:0011121	Abnormality of skin morphology	79796	ALG9	ORPHA:79328
HP:0011121	Abnormality of skin morphology	197131	UBR1	OMIM:243800
HP:0011121	Abnormality of skin morphology	54872	PIGG	ORPHA:280
HP:0011121	Abnormality of skin morphology	7469	NELFA	ORPHA:280
HP:0011121	Abnormality of skin morphology	60529	ALX4	ORPHA:60015
HP:0011121	Abnormality of skin morphology	60529	ALX4	OMIM:609597
HP:0011121	Abnormality of skin morphology	91949	COG7	OMIM:608779
HP:0011121	Abnormality of skin morphology	91949	COG7	ORPHA:79333
HP:0011121	Abnormality of skin morphology	6389	SDHA	ORPHA:44890
HP:0011121	Abnormality of skin morphology	5156	PDGFRA	ORPHA:44890
HP:0011121	Abnormality of skin morphology	846	CASR	ORPHA:428
HP:0011121	Abnormality of skin morphology	55719	SLF2	OMIM:620184
HP:0011121	Abnormality of skin morphology	203068	TUBB	ORPHA:2505
HP:0011121	Abnormality of skin morphology	10982	MAPRE2	ORPHA:2505
HP:0011121	Abnormality of skin morphology	1508	CTSB	OMIM:148370
HP:0011121	Abnormality of skin morphology	9373	PLAA	OMIM:617527
HP:0011121	Abnormality of skin morphology	81857	MED25	ORPHA:464738
HP:0011121	Abnormality of skin morphology	81857	MED25	OMIM:616449
HP:0011121	Abnormality of skin morphology	3930	LBR	OMIM:618019
HP:0011121	Abnormality of skin morphology	118924	FRA10AC1	OMIM:620113
HP:0011121	Abnormality of skin morphology	9939	RBM8A	ORPHA:3320
HP:0011121	Abnormality of skin morphology	9939	RBM8A	OMIM:274000
HP:0011121	Abnormality of skin morphology	5354	PLP1	ORPHA:280229
HP:0011121	Abnormality of skin morphology	8558	CDK10	OMIM:617694
HP:0011121	Abnormality of skin morphology	2811	GP1BA	ORPHA:274
HP:0011121	Abnormality of skin morphology	2811	GP1BA	ORPHA:853
HP:0011121	Abnormality of skin morphology	2815	GP9	ORPHA:274
HP:0011121	Abnormality of skin morphology	5568	PRKACG	OMIM:616176
HP:0011121	Abnormality of skin morphology	84342	COG8	ORPHA:95428
HP:0011121	Abnormality of skin morphology	3674	ITGA2B	ORPHA:849
HP:0011121	Abnormality of skin morphology	3674	ITGA2B	ORPHA:853
HP:0011121	Abnormality of skin morphology	3690	ITGB3	ORPHA:849
HP:0011121	Abnormality of skin morphology	3690	ITGB3	ORPHA:853
HP:0011121	Abnormality of skin morphology	2159	F10	ORPHA:328
HP:0011121	Abnormality of skin morphology	3673	ITGA2	ORPHA:853
HP:0011121	Abnormality of skin morphology	135228	CD109	ORPHA:853
HP:0011121	Abnormality of skin morphology	2153	F5	ORPHA:326
HP:0011121	Abnormality of skin morphology	6418	SET	OMIM:618106
HP:0011121	Abnormality of skin morphology	5932	RBBP8	OMIM:606744
HP:0011121	Abnormality of skin morphology	6768	ST14	OMIM:602400
HP:0011121	Abnormality of skin morphology	26154	ABCA12	OMIM:242500
HP:0011121	Abnormality of skin morphology	26154	ABCA12	ORPHA:457
HP:0011121	Abnormality of skin morphology	404672	GTF2H5	OMIM:616395
HP:0011121	Abnormality of skin morphology	412	STS	OMIM:308100
HP:0011121	Abnormality of skin morphology	64127	NOD2	OMIM:186580
HP:0011121	Abnormality of skin morphology	3891	KRT85	OMIM:602032
HP:0011121	Abnormality of skin morphology	4158	MC2R	OMIM:202200
HP:0011121	Abnormality of skin morphology	4158	MC2R	ORPHA:361
HP:0011121	Abnormality of skin morphology	30061	SLC40A1	ORPHA:139491
HP:0011121	Abnormality of skin morphology	1583	CYP11A1	ORPHA:168558
HP:0011121	Abnormality of skin morphology	1583	CYP11A1	ORPHA:289548
HP:0011121	Abnormality of skin morphology	5080	PAX6	ORPHA:2253
HP:0011121	Abnormality of skin morphology	29926	GMPPA	ORPHA:869
HP:0011121	Abnormality of skin morphology	60684	TRAPPC11	ORPHA:869
HP:0011121	Abnormality of skin morphology	8086	AAAS	ORPHA:869
HP:0011121	Abnormality of skin morphology	83550	GPR101	ORPHA:963
HP:0011121	Abnormality of skin morphology	56246	MRAP	ORPHA:361
HP:0011121	Abnormality of skin morphology	6770	STAR	ORPHA:361
HP:0011121	Abnormality of skin morphology	23530	NNT	ORPHA:361
HP:0011121	Abnormality of skin morphology	10587	TXNRD2	ORPHA:361
HP:0011121	Abnormality of skin morphology	57817	HAMP	ORPHA:79230
HP:0011121	Abnormality of skin morphology	148738	HJV	ORPHA:79230
HP:0011121	Abnormality of skin morphology	3756	KCNH1	ORPHA:3473
HP:0011121	Abnormality of skin morphology	3782	KCNN3	ORPHA:3473
HP:0011121	Abnormality of skin morphology	3662	IRF4	ORPHA:3452
HP:0011121	Abnormality of skin morphology	79083	MLPH	ORPHA:79478
HP:0011121	Abnormality of skin morphology	362	AQP5	OMIM:600231
HP:0011121	Abnormality of skin morphology	362	AQP5	ORPHA:2337
HP:0011121	Abnormality of skin morphology	57152	SLURP1	ORPHA:86923
HP:0011121	Abnormality of skin morphology	145264	SERPINA12	ORPHA:86923
HP:0011121	Abnormality of skin morphology	9342	SNAP29	ORPHA:66631
HP:0011121	Abnormality of skin morphology	4841	NONO	ORPHA:466791
HP:0011121	Abnormality of skin morphology	27238	GPKOW	ORPHA:2570
HP:0011121	Abnormality of skin morphology	90416	CCDC32	OMIM:619123
HP:0011121	Abnormality of skin morphology	4038	LRP4	ORPHA:3258
HP:0011121	Abnormality of skin morphology	5925	RB1	ORPHA:1587
HP:0011121	Abnormality of skin morphology	3209	HOXA13	ORPHA:2438
HP:0011121	Abnormality of skin morphology	1723	DHODH	ORPHA:246
HP:0011121	Abnormality of skin morphology	51099	ABHD5	ORPHA:98907
HP:0011121	Abnormality of skin morphology	51099	ABHD5	OMIM:275630
HP:0011121	Abnormality of skin morphology	55806	HR	OMIM:209500
HP:0011121	Abnormality of skin morphology	8239	USP9X	ORPHA:480880
HP:0011121	Abnormality of skin morphology	22930	RAB3GAP1	ORPHA:1387
HP:0011121	Abnormality of skin morphology	25782	RAB3GAP2	ORPHA:1387
HP:0011121	Abnormality of skin morphology	1062	CENPE	ORPHA:808
HP:0011121	Abnormality of skin morphology	79902	NUP85	ORPHA:808
HP:0011121	Abnormality of skin morphology	84126	ATRIP	ORPHA:808
HP:0011121	Abnormality of skin morphology	55835	CENPJ	ORPHA:808
HP:0011121	Abnormality of skin morphology	10293	TRAIP	ORPHA:808
HP:0011121	Abnormality of skin morphology	22995	CEP152	ORPHA:808
HP:0011121	Abnormality of skin morphology	10733	PLK4	ORPHA:808
HP:0011121	Abnormality of skin morphology	147409	DSG4	ORPHA:573
HP:0011121	Abnormality of skin morphology	147409	DSG4	OMIM:607903
HP:0011121	Abnormality of skin morphology	3892	KRT86	ORPHA:573
HP:0011121	Abnormality of skin morphology	3887	KRT81	ORPHA:573
HP:0011121	Abnormality of skin morphology	6897	TARS1	OMIM:618546
HP:0011121	Abnormality of skin morphology	9325	TRIP4	OMIM:617066
HP:0011121	Abnormality of skin morphology	9325	TRIP4	ORPHA:486815
HP:0011121	Abnormality of skin morphology	5950	RBP4	OMIM:615147
HP:0011121	Abnormality of skin morphology	6611	SMS	ORPHA:3063
HP:0011121	Abnormality of skin morphology	9652	SKIC3	OMIM:222470
HP:0011121	Abnormality of skin morphology	9652	SKIC3	ORPHA:84064
HP:0011121	Abnormality of skin morphology	8882	ZPR1	OMIM:619321
HP:0011121	Abnormality of skin morphology	283652	SLC24A5	OMIM:113750
HP:0011121	Abnormality of skin morphology	6499	SKIC2	ORPHA:84064
HP:0011121	Abnormality of skin morphology	4882	NPR2	OMIM:602875
HP:0011121	Abnormality of skin morphology	22808	MRAS	OMIM:618499
HP:0011121	Abnormality of skin morphology	8216	LZTR1	OMIM:616564
HP:0011121	Abnormality of skin morphology	8216	LZTR1	OMIM:605275
HP:0011121	Abnormality of skin morphology	84627	ZNF469	OMIM:229200
HP:0011121	Abnormality of skin morphology	6016	RIT1	OMIM:615355
HP:0011121	Abnormality of skin morphology	1717	DHCR7	OMIM:270400
HP:0011121	Abnormality of skin morphology	378884	NHLRC1	ORPHA:501
HP:0011121	Abnormality of skin morphology	7957	EPM2A	ORPHA:501
HP:0011121	Abnormality of skin morphology	84570	COL25A1	ORPHA:91411
HP:0011121	Abnormality of skin morphology	79776	ZFHX4	ORPHA:91411
HP:0011121	Abnormality of skin morphology	26276	VPS33B	OMIM:620009
HP:0011121	Abnormality of skin morphology	3141	HLCS	ORPHA:79242
HP:0011121	Abnormality of skin morphology	6023	RMRP	ORPHA:39041
HP:0011121	Abnormality of skin morphology	5896	RAG1	ORPHA:39041
HP:0011121	Abnormality of skin morphology	5897	RAG2	ORPHA:39041
HP:0011121	Abnormality of skin morphology	100	ADA	ORPHA:39041
HP:0011121	Abnormality of skin morphology	3575	IL7R	ORPHA:39041
HP:0011121	Abnormality of skin morphology	3561	IL2RG	ORPHA:39041
HP:0011121	Abnormality of skin morphology	10999	SLC27A4	ORPHA:88621
HP:0011121	Abnormality of skin morphology	5373	PMM2	ORPHA:79318
HP:0011121	Abnormality of skin morphology	5373	PMM2	OMIM:212065
HP:0011121	Abnormality of skin morphology	7040	TGFB1	ORPHA:1328
HP:0011121	Abnormality of skin morphology	79718	TBL1XR1	ORPHA:487825
HP:0011121	Abnormality of skin morphology	4436	MSH2	OMIM:619096
HP:0011121	Abnormality of skin morphology	2956	MSH6	OMIM:619097
HP:0011121	Abnormality of skin morphology	5980	REV3L	ORPHA:570
HP:0011121	Abnormality of skin morphology	23129	PLXND1	ORPHA:570
HP:0011121	Abnormality of skin morphology	11253	MAN1B1	ORPHA:397941
HP:0011121	Abnormality of skin morphology	8242	KDM5C	ORPHA:85279
HP:0011121	Abnormality of skin morphology	5395	PMS2	OMIM:619101
HP:0011121	Abnormality of skin morphology	7291	TWIST1	ORPHA:794
HP:0011121	Abnormality of skin morphology	5792	PTPRF	OMIM:616001
HP:0011121	Abnormality of skin morphology	10908	PNPLA6	ORPHA:2377
HP:0011121	Abnormality of skin morphology	9894	TELO2	ORPHA:488642
HP:0011121	Abnormality of skin morphology	9759	HDAC4	ORPHA:1001
HP:0011121	Abnormality of skin morphology	2131	EXT1	ORPHA:502
HP:0011121	Abnormality of skin morphology	7227	TRPS1	ORPHA:502
HP:0011121	Abnormality of skin morphology	283989	TSEN54	ORPHA:2524
HP:0011121	Abnormality of skin morphology	116461	TSEN15	ORPHA:2524
HP:0011121	Abnormality of skin morphology	79042	TSEN34	ORPHA:2524
HP:0011121	Abnormality of skin morphology	51091	SEPSECS	ORPHA:2524
HP:0011121	Abnormality of skin morphology	129563	DIS3L2	ORPHA:2849
HP:0011121	Abnormality of skin morphology	7140	TNNT3	ORPHA:1147
HP:0011121	Abnormality of skin morphology	259232	NALCN	ORPHA:1147
HP:0011121	Abnormality of skin morphology	7136	TNNI2	ORPHA:1147
HP:0011121	Abnormality of skin morphology	23511	NUP188	OMIM:618804
HP:0011121	Abnormality of skin morphology	658	BMPR1B	ORPHA:2639
HP:0011121	Abnormality of skin morphology	23522	KAT6B	ORPHA:3047
HP:0011121	Abnormality of skin morphology	147372	CCBE1	OMIM:235510
HP:0011121	Abnormality of skin morphology	9496	TBX4	ORPHA:261279
HP:0011121	Abnormality of skin morphology	1801	DPH1	ORPHA:459061
HP:0011121	Abnormality of skin morphology	2254	FGF9	ORPHA:3237
HP:0011121	Abnormality of skin morphology	5429	POLH	OMIM:278750
HP:0011121	Abnormality of skin morphology	5429	POLH	ORPHA:90342
HP:0011121	Abnormality of skin morphology	4948	OCA2	OMIM:203200
HP:0011121	Abnormality of skin morphology	3257	HPS1	OMIM:203300
HP:0011121	Abnormality of skin morphology	8074	FGF23	OMIM:617993
HP:0011121	Abnormality of skin morphology	5702	PSMC3	OMIM:619354
HP:0011121	Abnormality of skin morphology	2483	FRG1	OMIM:158900
HP:0011121	Abnormality of skin morphology	5111	PCNA	ORPHA:438134
HP:0011121	Abnormality of skin morphology	4536	MT-ND2	ORPHA:104
HP:0011121	Abnormality of skin morphology	4720	NDUFS2	ORPHA:104
HP:0011121	Abnormality of skin morphology	4519	MT-CYB	ORPHA:104
HP:0011121	Abnormality of skin morphology	4508	MT-ATP6	ORPHA:104
HP:0011121	Abnormality of skin morphology	4539	MT-ND4L	ORPHA:104
HP:0011121	Abnormality of skin morphology	4047	LSS	ORPHA:2850
HP:0011121	Abnormality of skin morphology	4047	LSS	OMIM:618840
HP:0011121	Abnormality of skin morphology	197	AHSG	ORPHA:2850
HP:0011121	Abnormality of skin morphology	3694	ITGB6	ORPHA:2850
HP:0011121	Abnormality of skin morphology	1120	CHKB	OMIM:602541
HP:0011121	Abnormality of skin morphology	57104	PNPLA2	ORPHA:565612
HP:0011121	Abnormality of skin morphology	57104	PNPLA2	OMIM:610717
HP:0011121	Abnormality of skin morphology	57104	PNPLA2	ORPHA:98908
HP:0011121	Abnormality of skin morphology	128486	FITM2	OMIM:618635
HP:0011121	Abnormality of skin morphology	1287	COL4A5	OMIM:301050
HP:0011121	Abnormality of skin morphology	79631	EFL1	ORPHA:811
HP:0011121	Abnormality of skin morphology	51119	SBDS	ORPHA:811
HP:0011121	Abnormality of skin morphology	3560	IL2RB	OMIM:618495
HP:0011121	Abnormality of skin morphology	285362	SUMF1	OMIM:272200
HP:0011121	Abnormality of skin morphology	285362	SUMF1	ORPHA:585
HP:0011121	Abnormality of skin morphology	415	ARSL	OMIM:302950
HP:0011121	Abnormality of skin morphology	2273	FHL1	ORPHA:98863
HP:0011121	Abnormality of skin morphology	2010	EMD	ORPHA:98863
HP:0011121	Abnormality of skin morphology	6307	MSMO1	OMIM:616834
HP:0011121	Abnormality of skin morphology	10371	SEMA3A	ORPHA:478
HP:0011121	Abnormality of skin morphology	81848	SPRY4	ORPHA:478
HP:0011121	Abnormality of skin morphology	23767	FLRT3	ORPHA:478
HP:0011121	Abnormality of skin morphology	79625	NDNF	ORPHA:478
HP:0011121	Abnormality of skin morphology	2253	FGF8	ORPHA:478
HP:0011121	Abnormality of skin morphology	389549	FEZF1	ORPHA:478
HP:0011121	Abnormality of skin morphology	1630	DCC	ORPHA:478
HP:0011121	Abnormality of skin morphology	3730	ANOS1	ORPHA:478
HP:0011121	Abnormality of skin morphology	54756	IL17RD	ORPHA:478
HP:0011121	Abnormality of skin morphology	285025	CCDC141	ORPHA:478
HP:0011121	Abnormality of skin morphology	60675	PROK2	ORPHA:478
HP:0011121	Abnormality of skin morphology	1848	DUSP6	ORPHA:478
HP:0011121	Abnormality of skin morphology	6870	TACR3	ORPHA:478
HP:0011121	Abnormality of skin morphology	9394	HS6ST1	ORPHA:478
HP:0011121	Abnormality of skin morphology	8822	FGF17	ORPHA:478
HP:0011121	Abnormality of skin morphology	79188	TMEM43	ORPHA:98853
HP:0011121	Abnormality of skin morphology	23345	SYNE1	ORPHA:98853
HP:0011121	Abnormality of skin morphology	23224	SYNE2	ORPHA:98853
HP:0011121	Abnormality of skin morphology	134218	DNAJC21	OMIM:617052
HP:0011121	Abnormality of skin morphology	5307	PITX1	OMIM:119800
HP:0011121	Abnormality of skin morphology	9928	KIF14	OMIM:616258
HP:0011121	Abnormality of skin morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011121	Abnormality of skin morphology	54820	NDE1	OMIM:605013
HP:0011121	Abnormality of skin morphology	6885	MAP3K7	OMIM:617137
HP:0011121	Abnormality of skin morphology	6885	MAP3K7	ORPHA:1826
HP:0011121	Abnormality of skin morphology	201163	FLCN	ORPHA:122
HP:0011121	Abnormality of skin morphology	286053	NSMCE2	OMIM:617253
HP:0011121	Abnormality of skin morphology	9968	MED12	OMIM:305450
HP:0011121	Abnormality of skin morphology	2248	FGF3	ORPHA:90024
HP:0011121	Abnormality of skin morphology	2248	FGF3	OMIM:610706
HP:0011121	Abnormality of skin morphology	1105	CHD1	OMIM:617682
HP:0011121	Abnormality of skin morphology	1105	CHD1	ORPHA:529965
HP:0011121	Abnormality of skin morphology	55906	ZC4H2	OMIM:314580
HP:0011121	Abnormality of skin morphology	81607	NECTIN4	OMIM:613573
HP:0011121	Abnormality of skin morphology	6662	SOX9	ORPHA:140
HP:0011121	Abnormality of skin morphology	55681	SCYL2	ORPHA:1143
HP:0011121	Abnormality of skin morphology	57222	ERGIC1	ORPHA:1143
HP:0011121	Abnormality of skin morphology	471	ATIC	OMIM:608688
HP:0011121	Abnormality of skin morphology	2887	GRB10	ORPHA:96182
HP:0011121	Abnormality of skin morphology	2235	FECH	OMIM:177000
HP:0011121	Abnormality of skin morphology	2235	FECH	ORPHA:79278
HP:0011121	Abnormality of skin morphology	7518	XRCC4	ORPHA:99812
HP:0011121	Abnormality of skin morphology	6336	SCN10A	ORPHA:90026
HP:0011121	Abnormality of skin morphology	56984	PSMG2	OMIM:619183
HP:0011121	Abnormality of skin morphology	2752	GLUL	OMIM:610015
HP:0011121	Abnormality of skin morphology	1174	AP1S1	OMIM:609313
HP:0011121	Abnormality of skin morphology	55739	NAXD	OMIM:618321
HP:0011121	Abnormality of skin morphology	64377	CHST8	OMIM:616265
HP:0011121	Abnormality of skin morphology	1071	CETP	ORPHA:79506
HP:0011121	Abnormality of skin morphology	345	APOC3	ORPHA:79506
HP:0011121	Abnormality of skin morphology	5083	PAX9	OMIM:604625
HP:0011121	Abnormality of skin morphology	210	ALAD	ORPHA:100924
HP:0011121	Abnormality of skin morphology	112802	KRT71	OMIM:615896
HP:0011121	Abnormality of skin morphology	5333	PLCD1	OMIM:151600
HP:0011121	Abnormality of skin morphology	6792	CDKL5	ORPHA:3451
HP:0011121	Abnormality of skin morphology	221692	PHACTR1	ORPHA:3451
HP:0011121	Abnormality of skin morphology	6487	ST3GAL3	ORPHA:3451
HP:0011121	Abnormality of skin morphology	10695	CNPY3	ORPHA:3451
HP:0011121	Abnormality of skin morphology	23236	PLCB1	ORPHA:3451
HP:0011121	Abnormality of skin morphology	150094	SIK1	ORPHA:3451
HP:0011121	Abnormality of skin morphology	6709	SPTAN1	ORPHA:3451
HP:0011121	Abnormality of skin morphology	60558	GUF1	ORPHA:3451
HP:0011121	Abnormality of skin morphology	2904	GRIN2B	ORPHA:3451
HP:0011121	Abnormality of skin morphology	4915	NTRK2	ORPHA:3451
HP:0011121	Abnormality of skin morphology	3145	HMBS	ORPHA:79276
HP:0011121	Abnormality of skin morphology	11235	PDCD10	ORPHA:221061
HP:0011121	Abnormality of skin morphology	889	KRIT1	ORPHA:221061
HP:0011121	Abnormality of skin morphology	175	AGA	ORPHA:93
HP:0011121	Abnormality of skin morphology	4297	KMT2A	OMIM:605130
HP:0011121	Abnormality of skin morphology	27086	FOXP1	OMIM:613670
HP:0011121	Abnormality of skin morphology	3423	IDS	ORPHA:217085
HP:0011121	Abnormality of skin morphology	3423	IDS	ORPHA:217093
HP:0011121	Abnormality of skin morphology	11198	SUPT16H	OMIM:619480
HP:0011121	Abnormality of skin morphology	23534	TNPO3	ORPHA:186
HP:0011121	Abnormality of skin morphology	6689	SPIB	ORPHA:186
HP:0011121	Abnormality of skin morphology	5450	POU2AF1	ORPHA:186
HP:0011121	Abnormality of skin morphology	9966	TNFSF15	ORPHA:186
HP:0011121	Abnormality of skin morphology	79258	MMEL1	ORPHA:186
HP:0011121	Abnormality of skin morphology	977	CD151	OMIM:609057
HP:0011121	Abnormality of skin morphology	102	ADAM10	OMIM:615537
HP:0011121	Abnormality of skin morphology	284654	RSPO1	OMIM:610644
HP:0011121	Abnormality of skin morphology	6820	SULT2B1	OMIM:617571
HP:0011121	Abnormality of skin morphology	79755	ZNF750	OMIM:610227
HP:0011121	Abnormality of skin morphology	1825	DSC3	OMIM:613102
HP:0011121	Abnormality of skin morphology	3557	IL1RN	OMIM:612852
HP:0011121	Abnormality of skin morphology	1956	EGFR	OMIM:616069
HP:0011121	Abnormality of skin morphology	79977	GRHL2	OMIM:616029
HP:0011121	Abnormality of skin morphology	5271	SERPINB8	OMIM:617115
HP:0011121	Abnormality of skin morphology	286887	KRT6C	OMIM:615735
HP:0011121	Abnormality of skin morphology	1475	CSTA	OMIM:607936
HP:0011121	Abnormality of skin morphology	55252	ASXL2	OMIM:617190
HP:0011121	Abnormality of skin morphology	2050	EPHB4	ORPHA:137667
HP:0011121	Abnormality of skin morphology	2050	EPHB4	OMIM:618196
HP:0011121	Abnormality of skin morphology	440275	EIF2AK4	ORPHA:199241
HP:0011121	Abnormality of skin morphology	10617	STAMBP	OMIM:614261
HP:0011121	Abnormality of skin morphology	242	ALOX12B	OMIM:242100
HP:0011121	Abnormality of skin morphology	59344	ALOXE3	OMIM:242100
HP:0011121	Abnormality of skin morphology	204219	CERS3	OMIM:615023
HP:0011121	Abnormality of skin morphology	285848	PNPLA1	OMIM:615024
HP:0011121	Abnormality of skin morphology	121214	SDR9C7	OMIM:617574
HP:0011121	Abnormality of skin morphology	8710	SERPINB7	OMIM:615598
HP:0011121	Abnormality of skin morphology	3857	KRT9	ORPHA:2199
HP:0011121	Abnormality of skin morphology	643418	LIPN	OMIM:613943
HP:0011121	Abnormality of skin morphology	1828	DSG1	OMIM:615508
HP:0011121	Abnormality of skin morphology	1828	DSG1	OMIM:148700
HP:0011121	Abnormality of skin morphology	79719	AAGAB	OMIM:148600
HP:0011121	Abnormality of skin morphology	79719	AAGAB	ORPHA:79501
HP:0011121	Abnormality of skin morphology	7373	COL14A1	ORPHA:79501
HP:0011121	Abnormality of skin morphology	64132	XYLT2	OMIM:264800
HP:0011121	Abnormality of skin morphology	340665	CYP26C1	ORPHA:398189
HP:0011121	Abnormality of skin morphology	81839	VANGL1	OMIM:600145
HP:0011121	Abnormality of skin morphology	257	ALX3	ORPHA:391474
HP:0011121	Abnormality of skin morphology	4488	MSX2	OMIM:168550
HP:0011121	Abnormality of skin morphology	57688	ZSWIM6	ORPHA:1827
HP:0011121	Abnormality of skin morphology	6857	SYT1	ORPHA:522077
HP:0011121	Abnormality of skin morphology	3868	KRT16	ORPHA:2309
HP:0011121	Abnormality of skin morphology	3872	KRT17	ORPHA:2309
HP:0011121	Abnormality of skin morphology	3853	KRT6A	ORPHA:2309
HP:0011121	Abnormality of skin morphology	3854	KRT6B	ORPHA:2309
HP:0011121	Abnormality of skin morphology	4035	LRP1	OMIM:604093
HP:0011121	Abnormality of skin morphology	10161	LPAR6	OMIM:278150
HP:0011121	Abnormality of skin morphology	200879	LIPH	OMIM:604379
HP:0011121	Abnormality of skin morphology	5566	PRKACA	OMIM:615830
HP:0011121	Abnormality of skin morphology	5566	PRKACA	ORPHA:189439
HP:0011121	Abnormality of skin morphology	79798	ARMC5	ORPHA:189427
HP:0011121	Abnormality of skin morphology	2778	GNAS	ORPHA:189427
HP:0011121	Abnormality of skin morphology	8622	PDE8B	ORPHA:189439
HP:0011121	Abnormality of skin morphology	5573	PRKAR1A	ORPHA:189439
HP:0011121	Abnormality of skin morphology	5573	PRKAR1A	ORPHA:1359
HP:0011121	Abnormality of skin morphology	50940	PDE11A	ORPHA:189439
HP:0011121	Abnormality of skin morphology	50940	PDE11A	ORPHA:1359
HP:0011121	Abnormality of skin morphology	7840	ALMS1	ORPHA:64
HP:0011121	Abnormality of skin morphology	93587	TRMT10A	ORPHA:391408
HP:0011121	Abnormality of skin morphology	93587	TRMT10A	OMIM:616033
HP:0011121	Abnormality of skin morphology	84919	PPP1R15B	ORPHA:391408
HP:0011121	Abnormality of skin morphology	10312	TCIRG1	ORPHA:486
HP:0011121	Abnormality of skin morphology	1991	ELANE	ORPHA:486
HP:0011121	Abnormality of skin morphology	2672	GFI1	ORPHA:486
HP:0011121	Abnormality of skin morphology	6729	SRP54	ORPHA:486
HP:0011121	Abnormality of skin morphology	81570	CLPB	ORPHA:486
HP:0011121	Abnormality of skin morphology	9051	PSTPIP1	OMIM:604416
HP:0011121	Abnormality of skin morphology	4790	NFKB1	OMIM:616576
HP:0011121	Abnormality of skin morphology	90268	OTULIN	OMIM:619986
HP:0011121	Abnormality of skin morphology	9948	WDR1	OMIM:150550
HP:0011121	Abnormality of skin morphology	2316	FLNA	ORPHA:88630
HP:0011121	Abnormality of skin morphology	3417	IDH1	ORPHA:99646
HP:0011121	Abnormality of skin morphology	3858	KRT10	OMIM:607602
HP:0011121	Abnormality of skin morphology	84868	HAVCR2	ORPHA:86884
HP:0011121	Abnormality of skin morphology	5921	RASA1	ORPHA:90307
HP:0011121	Abnormality of skin morphology	4210	MEFV	ORPHA:3243
HP:0011121	Abnormality of skin morphology	9526	MPDU1	ORPHA:79323
HP:0011121	Abnormality of skin morphology	1280	COL2A1	ORPHA:485
HP:0011121	Abnormality of skin morphology	5580	PRKCD	OMIM:615559
HP:0011121	Abnormality of skin morphology	2702	GJA5	OMIM:612474
HP:0011121	Abnormality of skin morphology	2703	GJA8	OMIM:612474
HP:0011121	Abnormality of skin morphology	7286	TUFT1	OMIM:607655
HP:0011121	Abnormality of skin morphology	80326	WNT10A	OMIM:257980
HP:0011121	Abnormality of skin morphology	4693	NDP	ORPHA:891
HP:0011121	Abnormality of skin morphology	23554	TSPAN12	ORPHA:891
HP:0011121	Abnormality of skin morphology	4041	LRP5	ORPHA:891
HP:0011121	Abnormality of skin morphology	79797	ZNF408	ORPHA:891
HP:0011121	Abnormality of skin morphology	8322	FZD4	ORPHA:891
HP:0011121	Abnormality of skin morphology	3081	HGD	OMIM:203500
HP:0011121	Abnormality of skin morphology	23219	FBXO28	OMIM:619777
HP:0011121	Abnormality of skin morphology	2642	GCGR	ORPHA:438274
HP:0011121	Abnormality of skin morphology	5979	RET	OMIM:162300
HP:0011121	Abnormality of skin morphology	5979	RET	ORPHA:29072
HP:0011121	Abnormality of skin morphology	5979	RET	ORPHA:276621
HP:0011121	Abnormality of skin morphology	4128	MAOA	OMIM:300615
HP:0011121	Abnormality of skin morphology	1743	DLST	ORPHA:29072
HP:0011121	Abnormality of skin morphology	4191	MDH2	ORPHA:29072
HP:0011121	Abnormality of skin morphology	2271	FH	ORPHA:29072
HP:0011121	Abnormality of skin morphology	8402	SLC25A11	ORPHA:29072
HP:0011121	Abnormality of skin morphology	54949	SDHAF2	ORPHA:29072
HP:0011121	Abnormality of skin morphology	55654	TMEM127	ORPHA:29072
HP:0011121	Abnormality of skin morphology	4149	MAX	ORPHA:29072
HP:0011121	Abnormality of skin morphology	773	CACNA1A	ORPHA:2131
HP:0011121	Abnormality of skin morphology	6507	SLC1A3	ORPHA:2131
HP:0011121	Abnormality of skin morphology	477	ATP1A2	ORPHA:2131
HP:0011121	Abnormality of skin morphology	478	ATP1A3	ORPHA:2131
HP:0011121	Abnormality of skin morphology	1788	DNMT3A	ORPHA:276621
HP:0011121	Abnormality of skin morphology	2034	EPAS1	ORPHA:276621
HP:0011121	Abnormality of skin morphology	8131	NPRL3	ORPHA:98820
HP:0011121	Abnormality of skin morphology	10641	NPRL2	ORPHA:98820
HP:0011121	Abnormality of skin morphology	9681	DEPDC5	ORPHA:98820
HP:0011121	Abnormality of skin morphology	3172	HNF4A	OMIM:125850
HP:0011121	Abnormality of skin morphology	64788	LMF1	OMIM:246650
HP:0011121	Abnormality of skin morphology	7535	ZAP70	OMIM:617006
HP:0011121	Abnormality of skin morphology	4141	MARS1	OMIM:619692
HP:0011121	Abnormality of skin morphology	341208	HEPHL1	OMIM:261990
HP:0011121	Abnormality of skin morphology	10625	IVNS1ABP	OMIM:618969
HP:0011121	Abnormality of skin morphology	920	CD4	OMIM:619238
HP:0011121	Abnormality of skin morphology	55315	SLC29A3	OMIM:602782
HP:0011121	Abnormality of skin morphology	6868	ADAM17	OMIM:614328
HP:0011121	Abnormality of skin morphology	55630	SLC39A4	OMIM:201100
HP:0011121	Abnormality of skin morphology	6720	SREBF1	OMIM:619016
HP:0011121	Abnormality of skin morphology	23590	PDSS1	OMIM:614651
HP:0011121	Abnormality of skin morphology	2312	FLG	OMIM:146700
HP:0011121	Abnormality of skin morphology	51816	ADA2	OMIM:182410
HP:0011121	Abnormality of skin morphology	5426	POLE	OMIM:618336
HP:0011121	Abnormality of skin morphology	5426	POLE	OMIM:615139
HP:0011121	Abnormality of skin morphology	171019	ADAMTS19	OMIM:620067
HP:0011121	Abnormality of skin morphology	3860	KRT13	OMIM:615785
HP:0011121	Abnormality of skin morphology	80067	DCAF17	ORPHA:3464
HP:0011121	Abnormality of skin morphology	3559	IL2RA	OMIM:606367
HP:0011121	Abnormality of skin morphology	23581	CASP14	OMIM:617320
HP:0011121	Abnormality of skin morphology	4487	MSX1	ORPHA:141291
HP:0011121	Abnormality of skin morphology	5818	NECTIN1	ORPHA:141291
HP:0011121	Abnormality of skin morphology	1188	CLCNKB	ORPHA:358
HP:0011121	Abnormality of skin morphology	6559	SLC12A3	ORPHA:358
HP:0011121	Abnormality of skin morphology	3514	IGKC	ORPHA:183675
HP:0011121	Abnormality of skin morphology	3501	IGHG2	ORPHA:183675
HP:0011121	Abnormality of skin morphology	63916	ELMO2	ORPHA:3019
HP:0011121	Abnormality of skin morphology	5340	PLG	OMIM:619360
HP:0011121	Abnormality of skin morphology	284	ANGPT1	OMIM:619361
HP:0011121	Abnormality of skin morphology	26509	MYOF	OMIM:619366
HP:0011121	Abnormality of skin morphology	64711	HS3ST6	OMIM:619367
HP:0011121	Abnormality of skin morphology	3827	KNG1	OMIM:619363
HP:0011121	Abnormality of skin morphology	1776	DNASE1L3	ORPHA:36412
HP:0011121	Abnormality of skin morphology	3763	KCNJ6	ORPHA:435628
HP:0011121	Abnormality of skin morphology	10466	COG5	ORPHA:263487
HP:0011121	Abnormality of skin morphology	51116	MRPS2	OMIM:617950
HP:0011121	Abnormality of skin morphology	1861	TOR1A	OMIM:618947
HP:0011121	Abnormality of skin morphology	92344	GORAB	OMIM:231070
HP:0011121	Abnormality of skin morphology	6513	SLC2A1	ORPHA:1942
HP:0011121	Abnormality of skin morphology	8831	SYNGAP1	ORPHA:1942
HP:0011121	Abnormality of skin morphology	1173	AP2M1	ORPHA:1942
HP:0011121	Abnormality of skin morphology	6323	SCN1A	ORPHA:1942
HP:0011121	Abnormality of skin morphology	340533	NEXMIF	ORPHA:1942
HP:0011121	Abnormality of skin morphology	1106	CHD2	ORPHA:1942
HP:0011121	Abnormality of skin morphology	6529	SLC6A1	ORPHA:1942
HP:0011121	Abnormality of skin morphology	4052	LTBP1	ORPHA:90349
HP:0011121	Abnormality of skin morphology	30008	EFEMP2	ORPHA:90349
HP:0011121	Abnormality of skin morphology	151516	ASPRV1	ORPHA:313
HP:0011121	Abnormality of skin morphology	9180	OSMR	OMIM:105250
HP:0011121	Abnormality of skin morphology	3122	HLA-DRA	ORPHA:505
HP:0011121	Abnormality of skin morphology	57165	GJC2	ORPHA:79452
HP:0011121	Abnormality of skin morphology	3849	KRT2	ORPHA:455
HP:0011121	Abnormality of skin morphology	10320	IKZF1	ORPHA:36426
HP:0011121	Abnormality of skin morphology	4791	NFKB2	ORPHA:293978
HP:0011121	Abnormality of skin morphology	3458	IFNG	ORPHA:805
HP:0011121	Abnormality of skin morphology	7248	TSC1	ORPHA:805
HP:0011121	Abnormality of skin morphology	7248	TSC1	ORPHA:538
HP:0011121	Abnormality of skin morphology	7249	TSC2	ORPHA:805
HP:0011121	Abnormality of skin morphology	7249	TSC2	ORPHA:538
HP:0011121	Abnormality of skin morphology	815	CAMK2A	OMIM:617798
HP:0011121	Abnormality of skin morphology	3074	HEXB	ORPHA:309155
HP:0011121	Abnormality of skin morphology	55617	TASP1	OMIM:618950
HP:0011121	Abnormality of skin morphology	7306	TYRP1	ORPHA:79433
HP:0011121	Abnormality of skin morphology	83480	PUS3	ORPHA:488627
HP:0011121	Abnormality of skin morphology	54914	FOCAD	OMIM:619991
HP:0011121	Abnormality of skin morphology	2767	GNA11	ORPHA:1556
HP:0011121	Abnormality of skin morphology	151188	ARL6IP6	ORPHA:1556
HP:0011121	Abnormality of skin morphology	215	ABCD1	ORPHA:139399
HP:0011121	Abnormality of skin morphology	2859	GPR35	ORPHA:171
HP:0011121	Abnormality of skin morphology	10507	SEMA4D	ORPHA:171
HP:0011121	Abnormality of skin morphology	4485	MST1	ORPHA:171
HP:0011121	Abnormality of skin morphology	7253	TSHR	OMIM:609152
HP:0011121	Abnormality of skin morphology	5449	POU1F1	OMIM:613038
HP:0011121	Abnormality of skin morphology	6850	SYK	OMIM:619381
HP:0011121	Abnormality of skin morphology	5238	PGM3	ORPHA:443811
HP:0011121	Abnormality of skin morphology	5238	PGM3	OMIM:615816
HP:0011121	Abnormality of skin morphology	10095	ARPC1B	OMIM:617718
HP:0011121	Abnormality of skin morphology	3594	IL12RB1	ORPHA:319552
HP:0011121	Abnormality of skin morphology	2677	GGCX	ORPHA:436274
HP:0011121	Abnormality of skin morphology	2677	GGCX	ORPHA:91135
HP:0011121	Abnormality of skin morphology	3115	HLA-DPB1	ORPHA:900
HP:0011121	Abnormality of skin morphology	5657	PRTN3	ORPHA:900
HP:0011121	Abnormality of skin morphology	3113	HLA-DPA1	ORPHA:900
HP:0011121	Abnormality of skin morphology	5184	PEPD	ORPHA:742
HP:0011121	Abnormality of skin morphology	9663	LPIN2	ORPHA:77297
HP:0011121	Abnormality of skin morphology	63910	SLC17A9	OMIM:616063
HP:0011121	Abnormality of skin morphology	9333	TGM5	ORPHA:263534
HP:0011121	Abnormality of skin morphology	84818	IL17RC	ORPHA:1334
HP:0011121	Abnormality of skin morphology	64581	CLEC7A	ORPHA:1334
HP:0011121	Abnormality of skin morphology	23765	IL17RA	ORPHA:1334
HP:0011121	Abnormality of skin morphology	10758	TRAF3IP2	ORPHA:1334
HP:0011121	Abnormality of skin morphology	112744	IL17F	ORPHA:1334
HP:0011121	Abnormality of skin morphology	1080	CFTR	ORPHA:498359
HP:0011121	Abnormality of skin morphology	7317	UBA1	OMIM:301054
HP:0011121	Abnormality of skin morphology	3889	KRT83	ORPHA:316
HP:0011121	Abnormality of skin morphology	11146	GLMN	ORPHA:83454
HP:0011121	Abnormality of skin morphology	596	BCL2	ORPHA:545
HP:0011121	Abnormality of skin morphology	3492	IGH	ORPHA:545
HP:0011121	Abnormality of skin morphology	604	BCL6	ORPHA:545
HP:0011121	Abnormality of skin morphology	23095	KIF1B	OMIM:256700
HP:0011121	Abnormality of skin morphology	6774	STAT3	ORPHA:2314
HP:0011121	Abnormality of skin morphology	27032	ATP2C1	ORPHA:2841
HP:0011121	Abnormality of skin morphology	55343	SLC35C1	ORPHA:99843
HP:0011121	Abnormality of skin morphology	1500	CTNND1	ORPHA:1997
HP:0011121	Abnormality of skin morphology	999	CDH1	ORPHA:1997
HP:0011121	Abnormality of skin morphology	128240	NAXE	OMIM:617186
HP:0011121	Abnormality of skin morphology	8974	P4HA2	ORPHA:397
HP:0011121	Abnormality of skin morphology	6890	TAP1	OMIM:604571
HP:0011121	Abnormality of skin morphology	6891	TAP2	OMIM:604571
HP:0011121	Abnormality of skin morphology	6892	TAPBP	OMIM:604571
HP:0011121	Abnormality of skin morphology	2038	EPB42	ORPHA:822
HP:0011121	Abnormality of skin morphology	9790	BMS1	ORPHA:1114
HP:0011121	Abnormality of skin morphology	10054	UBA2	ORPHA:1114
HP:0011121	Abnormality of skin morphology	2632	GBE1	ORPHA:206583
HP:0011121	Abnormality of skin morphology	3043	HBB	ORPHA:231214
HP:0011121	Abnormality of skin morphology	3043	HBB	ORPHA:231222
HP:0011121	Abnormality of skin morphology	3043	HBB	ORPHA:231226
HP:0011121	Abnormality of skin morphology	22948	CCT5	ORPHA:139578
HP:0011121	Abnormality of skin morphology	204	AK2	ORPHA:33355
HP:0011121	Abnormality of skin morphology	81704	DOCK8	ORPHA:217390
HP:0011121	Abnormality of skin morphology	267010	RNU12	OMIM:603116
HP:0011121	Abnormality of skin morphology	2224	FDPS	OMIM:616631
HP:0011121	Abnormality of skin morphology	2224	FDPS	ORPHA:79152
HP:0011121	Abnormality of skin morphology	29968	PSAT1	ORPHA:284417
HP:0011121	Abnormality of skin morphology	29968	PSAT1	OMIM:610992
HP:0011121	Abnormality of skin morphology	6335	SCN9A	ORPHA:33069
HP:0011121	Abnormality of skin morphology	6326	SCN2A	ORPHA:33069
HP:0011121	Abnormality of skin morphology	2554	GABRA1	ORPHA:33069
HP:0011121	Abnormality of skin morphology	6324	SCN1B	ORPHA:33069
HP:0011121	Abnormality of skin morphology	57526	PCDH19	ORPHA:33069
HP:0011121	Abnormality of skin morphology	2566	GABRG2	ORPHA:33069
HP:0011121	Abnormality of skin morphology	1830	DSG3	OMIM:619226
HP:0011120	Concave nasal ridge	3479	IGF1	ORPHA:73272
HP:0011120	Concave nasal ridge	4921	DDR2	OMIM:271665
HP:0011120	Concave nasal ridge	26235	FBXL4	OMIM:615471
HP:0011120	Concave nasal ridge	23312	DMXL2	OMIM:618663
HP:0011120	Concave nasal ridge	6777	STAT5B	OMIM:245590
HP:0011120	Concave nasal ridge	126695	KDF1	OMIM:617337
HP:0011120	Concave nasal ridge	5449	POU1F1	OMIM:613038
HP:0011120	Concave nasal ridge	85358	SHANK3	OMIM:606232
HP:0011120	Concave nasal ridge	3339	HSPG2	OMIM:255800
HP:0011120	Concave nasal ridge	10682	EBP	OMIM:302960
HP:0011120	Concave nasal ridge	9401	RECQL4	OMIM:218600
HP:0011120	Concave nasal ridge	9839	ZEB2	ORPHA:261552
HP:0011120	Concave nasal ridge	23404	EXOSC2	OMIM:617763
HP:0011120	Concave nasal ridge	4792	NFKBIA	OMIM:612132
HP:0011120	Concave nasal ridge	5184	PEPD	OMIM:170100
HP:0011120	Concave nasal ridge	529	ATP6V1E1	OMIM:617402
HP:0011120	Concave nasal ridge	182	JAG1	OMIM:118450
HP:0011120	Concave nasal ridge	2542	SLC37A4	OMIM:619525
HP:0011120	Concave nasal ridge	3559	IL2RA	OMIM:606367
HP:0011120	Concave nasal ridge	124583	CANT1	OMIM:251450
HP:0011120	Concave nasal ridge	2296	FOXC1	OMIM:602482
HP:0011120	Concave nasal ridge	50964	SOST	OMIM:122860
HP:0031531	Sub-RPE deposits	114902	C1QTNF5	OMIM:605670
HP:0031535	Increased theta frequency activity in EEG	1137	CHRNA4	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	1135	CHRNA2	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	57010	CABP4	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	1141	CHRNB2	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	57582	KCNT1	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	1392	CRH	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	9681	DEPDC5	ORPHA:98784
HP:0031535	Increased theta frequency activity in EEG	3785	KCNQ2	ORPHA:1949
HP:0031535	Increased theta frequency activity in EEG	3786	KCNQ3	ORPHA:1949
HP:0031535	Increased theta frequency activity in EEG	6134	RPL10	ORPHA:459070
HP:0031535	Increased theta frequency activity in EEG	23067	SETD1B	OMIM:619000
HP:0031540	Linear IgG deposits along the epidermal basement membrane zone	7535	ZAP70	OMIM:617006
HP:0100660	Dyskinesia	87178	PNPT1	ORPHA:319514
HP:0100660	Dyskinesia	10559	SLC35A1	OMIM:603585
HP:0100660	Dyskinesia	25978	CHMP2B	OMIM:600795
HP:0100660	Dyskinesia	8575	PRKRA	ORPHA:210571
HP:0100660	Dyskinesia	111	ADCY5	ORPHA:324588
HP:0100660	Dyskinesia	56915	EXOSC5	OMIM:619576
HP:0100660	Dyskinesia	2775	GNAO1	OMIM:617493
HP:0100660	Dyskinesia	10367	MICU1	OMIM:615673
HP:0100660	Dyskinesia	10367	MICU1	ORPHA:401768
HP:0100660	Dyskinesia	10846	PDE10A	ORPHA:494526
HP:0100660	Dyskinesia	10846	PDE10A	OMIM:616921
HP:0100660	Dyskinesia	58494	JAM2	OMIM:618824
HP:0100660	Dyskinesia	1593	CYP27A1	ORPHA:909
HP:0100660	Dyskinesia	4361	MRE11	ORPHA:251347
HP:0100660	Dyskinesia	781	CACNA2D1	OMIM:620149
HP:0100660	Dyskinesia	27235	COQ2	ORPHA:227510
HP:0100660	Dyskinesia	27235	COQ2	ORPHA:98933
HP:0100660	Dyskinesia	57704	GBA2	OMIM:614409
HP:0100660	Dyskinesia	5354	PLP1	ORPHA:280219
HP:0100660	Dyskinesia	6571	SLC18A2	ORPHA:352649
HP:0100660	Dyskinesia	80025	PANK2	OMIM:234200
HP:0100660	Dyskinesia	80025	PANK2	OMIM:607236
HP:0100660	Dyskinesia	10128	LRPPRC	ORPHA:70472
HP:0100660	Dyskinesia	6314	ATXN7	ORPHA:94147
HP:0100660	Dyskinesia	6314	ATXN7	OMIM:164500
HP:0100660	Dyskinesia	6531	SLC6A3	ORPHA:238455
HP:0100660	Dyskinesia	2512	FTL	ORPHA:157846
HP:0100660	Dyskinesia	23230	VPS13A	OMIM:200150
HP:0100660	Dyskinesia	3658	IREB2	OMIM:618451
HP:0100660	Dyskinesia	2259	FGF14	OMIM:193003
HP:0100660	Dyskinesia	16	AARS1	OMIM:616339
HP:0100660	Dyskinesia	112476	PRRT2	OMIM:128200
HP:0100660	Dyskinesia	38	ACAT1	ORPHA:134
HP:0100660	Dyskinesia	80746	TSEN2	OMIM:612389
HP:0100660	Dyskinesia	283989	TSEN54	OMIM:277470
HP:0100660	Dyskinesia	1807	DPYS	OMIM:222748
HP:0100660	Dyskinesia	203228	C9orf72	OMIM:105550
HP:0100660	Dyskinesia	6513	SLC2A1	ORPHA:71277
HP:0100660	Dyskinesia	10522	DEAF1	OMIM:617171
HP:0100660	Dyskinesia	4728	NDUFS8	OMIM:618222
HP:0100660	Dyskinesia	51102	MECR	ORPHA:508093
HP:0100660	Dyskinesia	51102	MECR	OMIM:617282
HP:0100660	Dyskinesia	23316	CUX2	OMIM:618141
HP:0100660	Dyskinesia	51728	POLR3K	OMIM:619310
HP:0100660	Dyskinesia	3736	KCNA1	ORPHA:98809
HP:0100660	Dyskinesia	3736	KCNA1	ORPHA:1934
HP:0100660	Dyskinesia	2290	FOXG1	OMIM:613454
HP:0100660	Dyskinesia	2904	GRIN2B	OMIM:613970
HP:0100660	Dyskinesia	2904	GRIN2B	OMIM:616139
HP:0100660	Dyskinesia	285175	UNC80	OMIM:616801
HP:0100660	Dyskinesia	285175	UNC80	ORPHA:371364
HP:0100660	Dyskinesia	259232	NALCN	ORPHA:371364
HP:0100660	Dyskinesia	4191	MDH2	OMIM:617339
HP:0100660	Dyskinesia	1119	CHKA	OMIM:620023
HP:0100660	Dyskinesia	2778	GNAS	ORPHA:94089
HP:0100660	Dyskinesia	8675	STX16	ORPHA:94089
HP:0100660	Dyskinesia	170302	ARX	OMIM:308350
HP:0100660	Dyskinesia	170302	ARX	ORPHA:1934
HP:0100660	Dyskinesia	25915	NDUFAF3	ORPHA:70474
HP:0100660	Dyskinesia	4714	NDUFB8	ORPHA:70474
HP:0100660	Dyskinesia	4720	NDUFS2	ORPHA:70474
HP:0100660	Dyskinesia	9997	SCO2	ORPHA:70474
HP:0100660	Dyskinesia	6834	SURF1	ORPHA:70474
HP:0100660	Dyskinesia	4072	EPCAM	ORPHA:144
HP:0100660	Dyskinesia	4292	MLH1	ORPHA:144
HP:0100660	Dyskinesia	5395	PMS2	ORPHA:144
HP:0100660	Dyskinesia	27030	MLH3	ORPHA:144
HP:0100660	Dyskinesia	22909	FAN1	ORPHA:144
HP:0100660	Dyskinesia	7048	TGFBR2	ORPHA:144
HP:0100660	Dyskinesia	3845	KRAS	ORPHA:144
HP:0100660	Dyskinesia	5290	PIK3CA	ORPHA:144
HP:0100660	Dyskinesia	2956	MSH6	ORPHA:144
HP:0100660	Dyskinesia	5378	PMS1	ORPHA:144
HP:0100660	Dyskinesia	4436	MSH2	ORPHA:144
HP:0100660	Dyskinesia	25814	ATXN10	ORPHA:98761
HP:0100660	Dyskinesia	4535	MT-ND1	ORPHA:255210
HP:0100660	Dyskinesia	4536	MT-ND2	ORPHA:255210
HP:0100660	Dyskinesia	4537	MT-ND3	ORPHA:255210
HP:0100660	Dyskinesia	4538	MT-ND4	ORPHA:255210
HP:0100660	Dyskinesia	4567	MT-TL1	ORPHA:255210
HP:0100660	Dyskinesia	4578	MT-TW	ORPHA:255210
HP:0100660	Dyskinesia	4577	MT-TV	ORPHA:255210
HP:0100660	Dyskinesia	4508	MT-ATP6	ORPHA:255210
HP:0100660	Dyskinesia	4540	MT-ND5	ORPHA:255210
HP:0100660	Dyskinesia	4541	MT-ND6	ORPHA:255210
HP:0100660	Dyskinesia	4566	MT-TK	ORPHA:255210
HP:0100660	Dyskinesia	79188	TMEM43	OMIM:604400
HP:0100660	Dyskinesia	54828	BCAS3	OMIM:619641
HP:0100660	Dyskinesia	7504	XK	OMIM:300842
HP:0100660	Dyskinesia	90522	YIF1B	OMIM:619125
HP:0100660	Dyskinesia	5155	PDGFB	OMIM:615483
HP:0100660	Dyskinesia	8878	SQSTM1	OMIM:617145
HP:0100660	Dyskinesia	64218	SEMA4A	ORPHA:440437
HP:0100660	Dyskinesia	657	BMPR1A	ORPHA:440437
HP:0100660	Dyskinesia	6224	RPS20	ORPHA:440437
HP:0100660	Dyskinesia	1654	DDX3X	OMIM:300958
HP:0100660	Dyskinesia	1654	DDX3X	ORPHA:457260
HP:0100660	Dyskinesia	80055	PGAP1	OMIM:615802
HP:0100660	Dyskinesia	3781	KCNN2	OMIM:619725
HP:0100660	Dyskinesia	2561	GABRB2	OMIM:617829
HP:0100660	Dyskinesia	2561	GABRB2	ORPHA:442835
HP:0100660	Dyskinesia	2562	GABRB3	OMIM:617113
HP:0100660	Dyskinesia	10463	SLC30A9	OMIM:617595
HP:0100660	Dyskinesia	8120	AP3B2	OMIM:617276
HP:0100660	Dyskinesia	8120	AP3B2	ORPHA:442835
HP:0100660	Dyskinesia	816	CAMK2B	OMIM:617799
HP:0100660	Dyskinesia	55737	VPS35	OMIM:614203
HP:0100660	Dyskinesia	55737	VPS35	ORPHA:411602
HP:0100660	Dyskinesia	4724	NDUFS4	OMIM:252010
HP:0100660	Dyskinesia	10352	WARS2	OMIM:619738
HP:0100660	Dyskinesia	131118	DNAJC19	ORPHA:66634
HP:0100660	Dyskinesia	29960	MRM2	OMIM:618567
HP:0100660	Dyskinesia	23219	FBXO28	OMIM:619777
HP:0100660	Dyskinesia	51079	NDUFA13	OMIM:618249
HP:0100660	Dyskinesia	2629	GBA1	ORPHA:411602
HP:0100660	Dyskinesia	23317	DNAJC13	ORPHA:411602
HP:0100660	Dyskinesia	1981	EIF4G1	ORPHA:411602
HP:0100660	Dyskinesia	120892	LRRK2	ORPHA:411602
HP:0100660	Dyskinesia	120892	LRRK2	ORPHA:2828
HP:0100660	Dyskinesia	26058	GIGYF2	ORPHA:411602
HP:0100660	Dyskinesia	6622	SNCA	ORPHA:411602
HP:0100660	Dyskinesia	6622	SNCA	ORPHA:2828
HP:0100660	Dyskinesia	116442	RAB39B	OMIM:311510
HP:0100660	Dyskinesia	6821	SUOX	OMIM:272300
HP:0100660	Dyskinesia	64802	NMNAT1	OMIM:619260
HP:0100660	Dyskinesia	6567	SLC16A2	ORPHA:59
HP:0100660	Dyskinesia	2583	B4GALNT1	ORPHA:101006
HP:0100660	Dyskinesia	2583	B4GALNT1	OMIM:609195
HP:0100660	Dyskinesia	11315	PARK7	OMIM:606324
HP:0100660	Dyskinesia	11315	PARK7	ORPHA:2828
HP:0100660	Dyskinesia	26100	WIPI2	OMIM:618453
HP:0100660	Dyskinesia	10533	ATG7	OMIM:619422
HP:0100660	Dyskinesia	1468	SLC25A10	OMIM:618972
HP:0100660	Dyskinesia	2902	GRIN1	OMIM:614254
HP:0100660	Dyskinesia	2902	GRIN1	ORPHA:1934
HP:0100660	Dyskinesia	2902	GRIN1	ORPHA:208447
HP:0100660	Dyskinesia	23400	ATP13A2	ORPHA:306674
HP:0100660	Dyskinesia	5813	PURA	ORPHA:438216
HP:0100660	Dyskinesia	113235	SLC46A1	OMIM:229050
HP:0100660	Dyskinesia	22868	FASTKD2	OMIM:618855
HP:0100660	Dyskinesia	8398	PLA2G6	OMIM:612953
HP:0100660	Dyskinesia	54832	VPS13C	ORPHA:2828
HP:0100660	Dyskinesia	7345	UCHL1	ORPHA:2828
HP:0100660	Dyskinesia	27429	HTRA2	ORPHA:2828
HP:0100660	Dyskinesia	9829	DNAJC6	ORPHA:2828
HP:0100660	Dyskinesia	5420	PODXL	ORPHA:2828
HP:0100660	Dyskinesia	65018	PINK1	ORPHA:2828
HP:0100660	Dyskinesia	8867	SYNJ1	ORPHA:2828
HP:0100660	Dyskinesia	8867	SYNJ1	ORPHA:442835
HP:0100660	Dyskinesia	5071	PRKN	ORPHA:2828
HP:0100660	Dyskinesia	3737	KCNA2	ORPHA:442835
HP:0100660	Dyskinesia	1759	DNM1	ORPHA:442835
HP:0100660	Dyskinesia	523	ATP6V1A	ORPHA:442835
HP:0100660	Dyskinesia	10991	SLC38A3	ORPHA:442835
HP:0100660	Dyskinesia	51343	FZR1	ORPHA:442835
HP:0100660	Dyskinesia	22906	TRAK1	ORPHA:442835
HP:0100660	Dyskinesia	2566	GABRG2	ORPHA:442835
HP:0100660	Dyskinesia	1917	EEF1A2	ORPHA:442835
HP:0100660	Dyskinesia	8831	SYNGAP1	ORPHA:442835
HP:0100660	Dyskinesia	7532	YWHAG	ORPHA:442835
HP:0100660	Dyskinesia	79876	UBA5	ORPHA:442835
HP:0100660	Dyskinesia	6328	SCN3A	ORPHA:442835
HP:0100660	Dyskinesia	2558	GABRA5	ORPHA:442835
HP:0100660	Dyskinesia	2906	GRIN2D	ORPHA:442835
HP:0100660	Dyskinesia	116150	NUS1	ORPHA:442835
HP:0100660	Dyskinesia	10659	CELF2	ORPHA:442835
HP:0100660	Dyskinesia	774	CACNA1B	ORPHA:442835
HP:0100660	Dyskinesia	1213	CLTC	ORPHA:442835
HP:0100660	Dyskinesia	51741	WWOX	ORPHA:442835
HP:0100660	Dyskinesia	23334	SZT2	ORPHA:442835
HP:0100660	Dyskinesia	51412	ACTL6B	ORPHA:442835
HP:0100660	Dyskinesia	348980	HCN1	ORPHA:442835
HP:0100660	Dyskinesia	6506	SLC1A2	ORPHA:442835
HP:0100660	Dyskinesia	2258	FGF13	ORPHA:442835
HP:0100660	Dyskinesia	477	ATP1A2	ORPHA:442835
HP:0100660	Dyskinesia	3745	KCNB1	ORPHA:442835
HP:0100660	Dyskinesia	284111	SLC13A5	ORPHA:442835
HP:0100660	Dyskinesia	25977	NECAP1	ORPHA:442835
HP:0100660	Dyskinesia	6334	SCN8A	ORPHA:442835
HP:0100660	Dyskinesia	22866	CNKSR2	ORPHA:442835
HP:0100660	Dyskinesia	9568	GABBR2	ORPHA:442835
HP:0100660	Dyskinesia	2555	GABRA2	ORPHA:442835
HP:0100660	Dyskinesia	55152	DALRD3	ORPHA:442835
HP:0100660	Dyskinesia	773	CACNA1A	ORPHA:442835
HP:0100660	Dyskinesia	26999	CYFIP2	ORPHA:442835
HP:0100660	Dyskinesia	4915	NTRK2	ORPHA:442835
HP:0100660	Dyskinesia	25973	PARS2	ORPHA:442835
HP:0100660	Dyskinesia	23097	CDK19	ORPHA:442835
HP:0100660	Dyskinesia	64801	ARV1	ORPHA:442835
HP:0100660	Dyskinesia	79947	DHDDS	ORPHA:442835
HP:0100660	Dyskinesia	2257	FGF12	ORPHA:442835
HP:0100660	Dyskinesia	5530	PPP3CA	ORPHA:442835
HP:0100660	Dyskinesia	478	ATP1A3	ORPHA:442835
HP:0100660	Dyskinesia	6857	SYT1	OMIM:618218
HP:0100660	Dyskinesia	175	AGA	ORPHA:93
HP:0100660	Dyskinesia	90417	KNSTRN	OMIM:613328
HP:0100660	Dyskinesia	5293	PIK3CD	OMIM:613328
HP:0100660	Dyskinesia	64374	SIL1	ORPHA:559
HP:0100660	Dyskinesia	51763	INPP5K	ORPHA:559
HP:0100660	Dyskinesia	6792	CDKL5	ORPHA:1934
HP:0100660	Dyskinesia	9091	PIGQ	ORPHA:1934
HP:0100660	Dyskinesia	81603	TRIM8	ORPHA:1934
HP:0100660	Dyskinesia	79751	SLC25A22	ORPHA:1934
HP:0100660	Dyskinesia	150094	SIK1	ORPHA:1934
HP:0100660	Dyskinesia	8573	CASK	ORPHA:1934
HP:0100660	Dyskinesia	23312	DMXL2	ORPHA:1934
HP:0100660	Dyskinesia	2917	GRM7	ORPHA:1934
HP:0100660	Dyskinesia	11284	PNKP	ORPHA:1934
HP:0100660	Dyskinesia	6326	SCN2A	ORPHA:1934
HP:0100660	Dyskinesia	51227	PIGP	ORPHA:1934
HP:0100660	Dyskinesia	6324	SCN1B	ORPHA:1934
HP:0100660	Dyskinesia	4761	NEUROD2	ORPHA:1934
HP:0100660	Dyskinesia	23516	SLC39A14	ORPHA:521406
HP:0100660	Dyskinesia	25953	PNKD	ORPHA:98810
HP:0100661	Trigeminal neuralgia	5621	PRNP	ORPHA:282166
HP:0100661	Trigeminal neuralgia	79628	SH3TC2	ORPHA:99949
HP:0100661	Trigeminal neuralgia	8314	BAP1	ORPHA:2495
HP:0100661	Trigeminal neuralgia	4771	NF2	ORPHA:2495
HP:0100661	Trigeminal neuralgia	6598	SMARCB1	ORPHA:2495
HP:0100661	Trigeminal neuralgia	5155	PDGFB	ORPHA:2495
HP:0100661	Trigeminal neuralgia	84231	TRAF7	ORPHA:2495
HP:0100661	Trigeminal neuralgia	6608	SMO	ORPHA:2495
HP:0100661	Trigeminal neuralgia	207	AKT1	ORPHA:2495
HP:0100661	Trigeminal neuralgia	5290	PIK3CA	ORPHA:2495
HP:0100661	Trigeminal neuralgia	7015	TERT	ORPHA:2495
HP:0100661	Trigeminal neuralgia	51684	SUFU	ORPHA:2495
HP:0100661	Trigeminal neuralgia	6605	SMARCE1	ORPHA:2495
HP:0100662	Chondritis	7317	UBA1	OMIM:301054
HP:0100663	Synotia	5396	PRRX1	OMIM:202650
HP:0100663	Synotia	5396	PRRX1	ORPHA:990
HP:0100663	Synotia	5015	OTX2	ORPHA:990
HP:0100665	Angioedema	7512	XPNPEP2	ORPHA:100057
HP:0100665	Angioedema	7512	XPNPEP2	OMIM:300909
HP:0100665	Angioedema	5340	PLG	OMIM:619360
HP:0100665	Angioedema	1369	CPN1	OMIM:212070
HP:0100665	Angioedema	284	ANGPT1	OMIM:619361
HP:0100665	Angioedema	26509	MYOF	OMIM:619366
HP:0100665	Angioedema	64711	HS3ST6	OMIM:619367
HP:0100665	Angioedema	3827	KNG1	OMIM:619363
HP:0100665	Angioedema	11005	SPINK5	OMIM:256500
HP:0100665	Angioedema	5336	PLCG2	OMIM:614468
HP:0100665	Angioedema	1776	DNASE1L3	ORPHA:36412
HP:0100665	Angioedema	3815	KIT	ORPHA:79455
HP:0100665	Angioedema	710	SERPING1	OMIM:106100
HP:0100665	Angioedema	2161	F12	OMIM:610618
HP:0100669	Abnormal pigmentation of the oral mucosa	84196	USP48	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	7157	TP53	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	9101	USP8	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	64072	CDH23	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	2908	NR3C1	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	673	BRAF	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	546	ATRX	ORPHA:96253
HP:0100669	Abnormal pigmentation of the oral mucosa	10651	MTX2	OMIM:619127
HP:0100669	Abnormal pigmentation of the oral mucosa	215	ABCD1	ORPHA:139399
HP:0100669	Abnormal pigmentation of the oral mucosa	3861	KRT14	OMIM:125595
HP:0100669	Abnormal pigmentation of the oral mucosa	6794	STK11	OMIM:175200
HP:0100669	Abnormal pigmentation of the oral mucosa	64131	XYLT1	OMIM:264800
HP:0100669	Abnormal pigmentation of the oral mucosa	64132	XYLT2	OMIM:264800
HP:0100669	Abnormal pigmentation of the oral mucosa	368	ABCC6	OMIM:264800
HP:0011130	Abnormal renal calyx morphology	51322	WAC	ORPHA:466950
HP:0011130	Abnormal renal calyx morphology	4297	KMT2A	ORPHA:319182
HP:0011130	Abnormal renal calyx morphology	11128	POLR3A	ORPHA:3455
HP:0011134	Low-grade fever	6775	STAT4	ORPHA:85408
HP:0011134	Low-grade fever	3560	IL2RB	ORPHA:85408
HP:0011134	Low-grade fever	79722	ANKRD55	ORPHA:85408
HP:0011134	Low-grade fever	26191	PTPN22	ORPHA:85408
HP:0011134	Low-grade fever	919	CD247	ORPHA:85408
HP:0011134	Low-grade fever	3559	IL2RA	ORPHA:85408
HP:0011134	Low-grade fever	5771	PTPN2	ORPHA:85408
HP:0011134	Low-grade fever	811	CALR	ORPHA:824
HP:0011134	Low-grade fever	4352	MPL	ORPHA:824
HP:0011134	Low-grade fever	3717	JAK2	ORPHA:824
HP:0011134	Low-grade fever	54790	TET2	ORPHA:824
HP:0011135	Aplasia/Hypoplasia of the sweat glands	126695	KDF1	OMIM:617337
HP:0011135	Aplasia/Hypoplasia of the sweat glands	6926	TBX3	OMIM:181450
HP:0011135	Aplasia/Hypoplasia of the sweat glands	4000	LMNA	ORPHA:1662
HP:0011135	Aplasia/Hypoplasia of the sweat glands	10269	ZMPSTE24	ORPHA:1662
HP:0011135	Aplasia/Hypoplasia of the sweat glands	1896	EDA	OMIM:305100
HP:0011135	Aplasia/Hypoplasia of the sweat glands	4792	NFKBIA	OMIM:612132
HP:0011135	Aplasia/Hypoplasia of the sweat glands	4914	NTRK1	ORPHA:642
HP:0011135	Aplasia/Hypoplasia of the sweat glands	8517	IKBKG	OMIM:300291
HP:0011136	Aplasia of the sweat glands	4792	NFKBIA	OMIM:612132
HP:0011136	Aplasia of the sweat glands	4914	NTRK1	ORPHA:642
HP:0011136	Aplasia of the sweat glands	8517	IKBKG	OMIM:300291
HP:0011138	Abnormality of skin adnexa morphology	2261	FGFR3	ORPHA:794
HP:0011138	Abnormality of skin adnexa morphology	2261	FGFR3	OMIM:602849
HP:0011138	Abnormality of skin adnexa morphology	3479	IGF1	ORPHA:73272
HP:0011138	Abnormality of skin adnexa morphology	11113	CIT	OMIM:617090
HP:0011138	Abnormality of skin adnexa morphology	25970	SH2B1	ORPHA:261222
HP:0011138	Abnormality of skin adnexa morphology	9131	AIFM1	OMIM:300232
HP:0011138	Abnormality of skin adnexa morphology	6909	TBX2	OMIM:618223
HP:0011138	Abnormality of skin adnexa morphology	55627	SMPD4	OMIM:618622
HP:0011138	Abnormality of skin adnexa morphology	8818	DPM2	ORPHA:329178
HP:0011138	Abnormality of skin adnexa morphology	7545	ZIC1	OMIM:616602
HP:0011138	Abnormality of skin adnexa morphology	7545	ZIC1	OMIM:618736
HP:0011138	Abnormality of skin adnexa morphology	7518	XRCC4	ORPHA:99812
HP:0011138	Abnormality of skin adnexa morphology	55209	SETD5	ORPHA:404440
HP:0011138	Abnormality of skin adnexa morphology	55209	SETD5	OMIM:615761
HP:0011138	Abnormality of skin adnexa morphology	3020	H3-3A	OMIM:619720
HP:0011138	Abnormality of skin adnexa morphology	341640	FREM2	OMIM:617666
HP:0011138	Abnormality of skin adnexa morphology	80055	PGAP1	OMIM:615802
HP:0011138	Abnormality of skin adnexa morphology	318	NUDT2	OMIM:619844
HP:0011138	Abnormality of skin adnexa morphology	55780	ERMARD	ORPHA:75857
HP:0011138	Abnormality of skin adnexa morphology	5934	RBL2	OMIM:619690
HP:0011138	Abnormality of skin adnexa morphology	83999	KREMEN1	OMIM:617392
HP:0011138	Abnormality of skin adnexa morphology	10735	STAG2	OMIM:301022
HP:0011138	Abnormality of skin adnexa morphology	55870	ASH1L	OMIM:617796
HP:0011138	Abnormality of skin adnexa morphology	79029	AFG2B	OMIM:619616
HP:0011138	Abnormality of skin adnexa morphology	23065	EMC1	OMIM:616875
HP:0011138	Abnormality of skin adnexa morphology	23065	EMC1	ORPHA:480898
HP:0011138	Abnormality of skin adnexa morphology	1954	MEGF8	OMIM:614976
HP:0011138	Abnormality of skin adnexa morphology	59336	PRDM13	OMIM:619909
HP:0011138	Abnormality of skin adnexa morphology	9895	TECPR2	OMIM:615031
HP:0011138	Abnormality of skin adnexa morphology	9895	TECPR2	ORPHA:320385
HP:0011138	Abnormality of skin adnexa morphology	1182	CLCN3	OMIM:619512
HP:0011138	Abnormality of skin adnexa morphology	6938	TCF12	OMIM:615314
HP:0011138	Abnormality of skin adnexa morphology	80036	TRPM3	OMIM:620224
HP:0011138	Abnormality of skin adnexa morphology	9533	POLR1C	ORPHA:861
HP:0011138	Abnormality of skin adnexa morphology	51082	POLR1D	ORPHA:861
HP:0011138	Abnormality of skin adnexa morphology	253959	RALGAPA1	OMIM:618797
HP:0011138	Abnormality of skin adnexa morphology	440138	ALG11	OMIM:613661
HP:0011138	Abnormality of skin adnexa morphology	93587	TRMT10A	ORPHA:391408
HP:0011138	Abnormality of skin adnexa morphology	93587	TRMT10A	OMIM:616033
HP:0011138	Abnormality of skin adnexa morphology	84919	PPP1R15B	ORPHA:391408
HP:0011138	Abnormality of skin adnexa morphology	5286	PIK3C2A	OMIM:618440
HP:0011138	Abnormality of skin adnexa morphology	79147	FKRP	OMIM:613153
HP:0011138	Abnormality of skin adnexa morphology	374969	SVBP	OMIM:618569
HP:0011138	Abnormality of skin adnexa morphology	4683	NBN	ORPHA:647
HP:0011138	Abnormality of skin adnexa morphology	6135	RPL11	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6138	RPL15	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6229	RPS24	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6125	RPL5	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6204	RPS10	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6224	RPS20	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6165	RPL35A	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6223	RPS19	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6232	RPS27	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6231	RPS26	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	11224	RPL35	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6160	RPL31	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6218	RPS17	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6201	RPS7	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6155	RPL27	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6154	RPL26	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6210	RPS15A	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	90121	TSR2	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6141	RPL18	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6235	RPS29	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6234	RPS28	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	51816	ADA2	ORPHA:124
HP:0011138	Abnormality of skin adnexa morphology	6913	TBX15	OMIM:260660
HP:0011138	Abnormality of skin adnexa morphology	29123	ANKRD11	OMIM:148050
HP:0011138	Abnormality of skin adnexa morphology	9990	SLC12A6	OMIM:218000
HP:0011138	Abnormality of skin adnexa morphology	257	ALX3	OMIM:136760
HP:0011138	Abnormality of skin adnexa morphology	257	ALX3	ORPHA:391474
HP:0011138	Abnormality of skin adnexa morphology	4281	MID1	OMIM:300000
HP:0011138	Abnormality of skin adnexa morphology	4281	MID1	ORPHA:2745
HP:0011138	Abnormality of skin adnexa morphology	10220	GDF11	OMIM:619122
HP:0011138	Abnormality of skin adnexa morphology	22907	DHX30	OMIM:617804
HP:0011138	Abnormality of skin adnexa morphology	6304	SATB1	OMIM:619229
HP:0011138	Abnormality of skin adnexa morphology	4036	LRP2	ORPHA:2143
HP:0011138	Abnormality of skin adnexa morphology	85378	TUBGCP6	ORPHA:2518
HP:0011138	Abnormality of skin adnexa morphology	27229	TUBGCP4	ORPHA:2518
HP:0011138	Abnormality of skin adnexa morphology	10733	PLK4	ORPHA:2518
HP:0011138	Abnormality of skin adnexa morphology	22947	DUX4L1	ORPHA:269
HP:0011138	Abnormality of skin adnexa morphology	1789	DNMT3B	ORPHA:269
HP:0011138	Abnormality of skin adnexa morphology	2483	FRG1	ORPHA:269
HP:0011138	Abnormality of skin adnexa morphology	23347	SMCHD1	ORPHA:269
HP:0011138	Abnormality of skin adnexa morphology	100288687	DUX4	ORPHA:269
HP:0011138	Abnormality of skin adnexa morphology	124583	CANT1	ORPHA:1425
HP:0011138	Abnormality of skin adnexa morphology	55790	CSGALNACT1	ORPHA:1425
HP:0011138	Abnormality of skin adnexa morphology	64093	SMOC1	OMIM:206920
HP:0011138	Abnormality of skin adnexa morphology	1717	DHCR7	ORPHA:818
HP:0011138	Abnormality of skin adnexa morphology	8243	SMC1A	OMIM:300590
HP:0011138	Abnormality of skin adnexa morphology	8243	SMC1A	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	8036	SHOC2	OMIM:607721
HP:0011138	Abnormality of skin adnexa morphology	11253	MAN1B1	ORPHA:397941
HP:0011138	Abnormality of skin adnexa morphology	23013	SPEN	OMIM:619312
HP:0011138	Abnormality of skin adnexa morphology	8367	H4C5	OMIM:619950
HP:0011138	Abnormality of skin adnexa morphology	9853	RUSC2	OMIM:617773
HP:0011138	Abnormality of skin adnexa morphology	6228	RPS23	OMIM:617412
HP:0011138	Abnormality of skin adnexa morphology	4897	NRCAM	OMIM:619833
HP:0011138	Abnormality of skin adnexa morphology	10586	MAB21L2	OMIM:615877
HP:0011138	Abnormality of skin adnexa morphology	10274	STAG1	ORPHA:502434
HP:0011138	Abnormality of skin adnexa morphology	85358	SHANK3	OMIM:606232
HP:0011138	Abnormality of skin adnexa morphology	85358	SHANK3	ORPHA:48652
HP:0011138	Abnormality of skin adnexa morphology	84570	COL25A1	ORPHA:91411
HP:0011138	Abnormality of skin adnexa morphology	79776	ZFHX4	ORPHA:91411
HP:0011138	Abnormality of skin adnexa morphology	27125	AFF4	ORPHA:444077
HP:0011138	Abnormality of skin adnexa morphology	27125	AFF4	OMIM:616368
HP:0011138	Abnormality of skin adnexa morphology	55869	HDAC8	OMIM:300882
HP:0011138	Abnormality of skin adnexa morphology	55869	HDAC8	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	10847	SRCAP	OMIM:136140
HP:0011138	Abnormality of skin adnexa morphology	1436	CSF1R	OMIM:618476
HP:0011138	Abnormality of skin adnexa morphology	9578	CDC42BPB	OMIM:619841
HP:0011138	Abnormality of skin adnexa morphology	29998	BICRA	OMIM:619325
HP:0011138	Abnormality of skin adnexa morphology	80816	ASXL3	OMIM:615485
HP:0011138	Abnormality of skin adnexa morphology	10978	CLP1	ORPHA:411493
HP:0011138	Abnormality of skin adnexa morphology	10978	CLP1	OMIM:615803
HP:0011138	Abnormality of skin adnexa morphology	6536	SLC6A9	OMIM:617301
HP:0011138	Abnormality of skin adnexa morphology	51506	UFC1	OMIM:618076
HP:0011138	Abnormality of skin adnexa morphology	9442	MED27	OMIM:619286
HP:0011138	Abnormality of skin adnexa morphology	8085	KMT2D	ORPHA:2322
HP:0011138	Abnormality of skin adnexa morphology	7403	KDM6A	ORPHA:2322
HP:0011138	Abnormality of skin adnexa morphology	7403	KDM6A	OMIM:300867
HP:0011138	Abnormality of skin adnexa morphology	55690	PACS1	OMIM:615009
HP:0011138	Abnormality of skin adnexa morphology	55690	PACS1	ORPHA:329224
HP:0011138	Abnormality of skin adnexa morphology	4081	MAB21L1	OMIM:618479
HP:0011138	Abnormality of skin adnexa morphology	2250	FGF5	OMIM:190330
HP:0011138	Abnormality of skin adnexa morphology	10908	PNPLA6	OMIM:275400
HP:0011138	Abnormality of skin adnexa morphology	3764	KCNJ8	ORPHA:1517
HP:0011138	Abnormality of skin adnexa morphology	10060	ABCC9	ORPHA:1517
HP:0011138	Abnormality of skin adnexa morphology	10060	ABCC9	OMIM:239850
HP:0011138	Abnormality of skin adnexa morphology	9126	SMC3	OMIM:610759
HP:0011138	Abnormality of skin adnexa morphology	9126	SMC3	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	4297	KMT2A	OMIM:605130
HP:0011138	Abnormality of skin adnexa morphology	4297	KMT2A	ORPHA:319182
HP:0011138	Abnormality of skin adnexa morphology	55777	MBD5	OMIM:156200
HP:0011138	Abnormality of skin adnexa morphology	23221	RHOBTB2	OMIM:618004
HP:0011138	Abnormality of skin adnexa morphology	1956	EGFR	OMIM:616069
HP:0011138	Abnormality of skin adnexa morphology	4998	ORC1	OMIM:224690
HP:0011138	Abnormality of skin adnexa morphology	4052	LTBP1	OMIM:619451
HP:0011138	Abnormality of skin adnexa morphology	8260	NAA10	OMIM:300855
HP:0011138	Abnormality of skin adnexa morphology	80204	FBXO11	OMIM:618089
HP:0011138	Abnormality of skin adnexa morphology	8120	AP3B2	OMIM:617276
HP:0011138	Abnormality of skin adnexa morphology	55603	TENT5A	OMIM:617952
HP:0011138	Abnormality of skin adnexa morphology	4853	NOTCH2	OMIM:102500
HP:0011138	Abnormality of skin adnexa morphology	64359	NXN	OMIM:618529
HP:0011138	Abnormality of skin adnexa morphology	64359	NXN	ORPHA:1507
HP:0011138	Abnormality of skin adnexa morphology	4920	ROR2	ORPHA:1507
HP:0011138	Abnormality of skin adnexa morphology	4920	ROR2	OMIM:268310
HP:0011138	Abnormality of skin adnexa morphology	7841	MOGS	OMIM:606056
HP:0011138	Abnormality of skin adnexa morphology	7841	MOGS	ORPHA:79330
HP:0011138	Abnormality of skin adnexa morphology	2200	FBN1	ORPHA:969
HP:0011138	Abnormality of skin adnexa morphology	2200	FBN1	OMIM:102370
HP:0011138	Abnormality of skin adnexa morphology	9377	COX5A	OMIM:619064
HP:0011138	Abnormality of skin adnexa morphology	6045	RNF2	OMIM:619460
HP:0011138	Abnormality of skin adnexa morphology	6872	TAF1	ORPHA:480907
HP:0011138	Abnormality of skin adnexa morphology	23258	DENND5A	OMIM:617281
HP:0011138	Abnormality of skin adnexa morphology	9496	TBX4	ORPHA:261279
HP:0011138	Abnormality of skin adnexa morphology	1105	CHD1	OMIM:617682
HP:0011138	Abnormality of skin adnexa morphology	22872	SEC31A	OMIM:618651
HP:0011138	Abnormality of skin adnexa morphology	23314	SATB2	OMIM:612313
HP:0011138	Abnormality of skin adnexa morphology	649	BMP1	OMIM:614856
HP:0011138	Abnormality of skin adnexa morphology	2783	GNB2	OMIM:619503
HP:0011138	Abnormality of skin adnexa morphology	3756	KCNH1	ORPHA:3473
HP:0011138	Abnormality of skin adnexa morphology	3756	KCNH1	ORPHA:420561
HP:0011138	Abnormality of skin adnexa morphology	4247	MGAT2	OMIM:212066
HP:0011138	Abnormality of skin adnexa morphology	4247	MGAT2	ORPHA:79329
HP:0011138	Abnormality of skin adnexa morphology	23476	BRD4	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	25836	NIPBL	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	25836	NIPBL	OMIM:122470
HP:0011138	Abnormality of skin adnexa morphology	5885	RAD21	ORPHA:199
HP:0011138	Abnormality of skin adnexa morphology	57003	CCDC47	OMIM:618268
HP:0011138	Abnormality of skin adnexa morphology	157680	VPS13B	ORPHA:193
HP:0011138	Abnormality of skin adnexa morphology	9150	CTDP1	ORPHA:48431
HP:0011138	Abnormality of skin adnexa morphology	149371	EXOC8	OMIM:619076
HP:0011138	Abnormality of skin adnexa morphology	51633	OTUD6B	OMIM:617452
HP:0011138	Abnormality of skin adnexa morphology	51633	OTUD6B	ORPHA:505237
HP:0011138	Abnormality of skin adnexa morphology	1387	CREBBP	OMIM:180849
HP:0011138	Abnormality of skin adnexa morphology	1387	CREBBP	OMIM:618332
HP:0011138	Abnormality of skin adnexa morphology	2033	EP300	OMIM:180849
HP:0011138	Abnormality of skin adnexa morphology	2033	EP300	OMIM:613684
HP:0011138	Abnormality of skin adnexa morphology	1857	DVL3	ORPHA:3107
HP:0011138	Abnormality of skin adnexa morphology	1857	DVL3	OMIM:616894
HP:0011138	Abnormality of skin adnexa morphology	7474	WNT5A	ORPHA:3107
HP:0011138	Abnormality of skin adnexa morphology	7474	WNT5A	OMIM:180700
HP:0011138	Abnormality of skin adnexa morphology	1855	DVL1	ORPHA:3107
HP:0011138	Abnormality of skin adnexa morphology	1855	DVL1	OMIM:180700
HP:0011138	Abnormality of skin adnexa morphology	2535	FZD2	ORPHA:3107
HP:0011138	Abnormality of skin adnexa morphology	92609	TIMM50	OMIM:617698
HP:0011138	Abnormality of skin adnexa morphology	85440	DOCK7	ORPHA:411986
HP:0011138	Abnormality of skin adnexa morphology	85440	DOCK7	OMIM:615859
HP:0011138	Abnormality of skin adnexa morphology	8405	SPOP	OMIM:618828
HP:0011138	Abnormality of skin adnexa morphology	283209	PGM2L1	OMIM:620191
HP:0011138	Abnormality of skin adnexa morphology	4094	MAF	ORPHA:1272
HP:0011138	Abnormality of skin adnexa morphology	51305	KCNK9	OMIM:612292
HP:0011138	Abnormality of skin adnexa morphology	8567	MADD	OMIM:619005
HP:0011138	Abnormality of skin adnexa morphology	1806	DPYD	ORPHA:1675
HP:0011138	Abnormality of skin adnexa morphology	23261	CAMTA1	OMIM:614756
HP:0011138	Abnormality of skin adnexa morphology	55343	SLC35C1	ORPHA:99843
HP:0011138	Abnormality of skin adnexa morphology	55691	FRMD4A	OMIM:616819
HP:0011138	Abnormality of skin adnexa morphology	55691	FRMD4A	ORPHA:466688
HP:0011138	Abnormality of skin adnexa morphology	5495	PPM1B	ORPHA:163693
HP:0011138	Abnormality of skin adnexa morphology	6519	SLC3A1	ORPHA:163693
HP:0011138	Abnormality of skin adnexa morphology	9581	PREPL	ORPHA:163693
HP:0011138	Abnormality of skin adnexa morphology	79823	CAMKMT	ORPHA:163693
HP:0011138	Abnormality of skin adnexa morphology	10463	SLC30A9	OMIM:617595
HP:0011138	Abnormality of skin adnexa morphology	57479	PRR12	OMIM:619539
HP:0011138	Abnormality of skin adnexa morphology	738	VPS51	OMIM:618606
HP:0011138	Abnormality of skin adnexa morphology	4848	CNOT2	OMIM:618608
HP:0011138	Abnormality of skin adnexa morphology	84842	HPDL	OMIM:619026
HP:0011138	Abnormality of skin adnexa morphology	5881	RAC3	OMIM:618577
HP:0011138	Abnormality of skin adnexa morphology	672	BRCA1	OMIM:617883
HP:0011138	Abnormality of skin adnexa morphology	9181	ARHGEF2	OMIM:617523
HP:0011138	Abnormality of skin adnexa morphology	6878	TAF6	OMIM:617126
HP:0011138	Abnormality of skin adnexa morphology	1642	DDB1	OMIM:619426
HP:0011138	Abnormality of skin adnexa morphology	7407	VARS1	OMIM:617802
HP:0011138	Abnormality of skin adnexa morphology	91179	SCARF2	OMIM:600920
HP:0011138	Abnormality of skin adnexa morphology	4035	LRP1	OMIM:604093
HP:0011138	Abnormality of skin adnexa morphology	2255	FGF10	OMIM:620193
HP:0011138	Abnormality of skin adnexa morphology	26235	FBXL4	OMIM:615471
HP:0011138	Abnormality of skin adnexa morphology	9820	CUL7	ORPHA:2616
HP:0011138	Abnormality of skin adnexa morphology	9820	CUL7	OMIM:273750
HP:0011138	Abnormality of skin adnexa morphology	23363	OBSL1	ORPHA:2616
HP:0011138	Abnormality of skin adnexa morphology	83987	CCDC8	ORPHA:2616
HP:0011138	Abnormality of skin adnexa morphology	10479	SLC9A6	OMIM:300243
HP:0011138	Abnormality of skin adnexa morphology	10479	SLC9A6	ORPHA:85278
HP:0011138	Abnormality of skin adnexa morphology	1278	COL1A2	ORPHA:230851
HP:0011138	Abnormality of skin adnexa morphology	57082	KNL1	OMIM:604321
HP:0011138	Abnormality of skin adnexa morphology	55699	IARS2	ORPHA:436174
HP:0011138	Abnormality of skin adnexa morphology	55699	IARS2	OMIM:616007
HP:0011138	Abnormality of skin adnexa morphology	10015	PDCD6IP	OMIM:620047
HP:0011138	Abnormality of skin adnexa morphology	388662	SLC6A17	ORPHA:457212
HP:0011138	Abnormality of skin adnexa morphology	55280	CWF19L1	OMIM:616127
HP:0011138	Abnormality of skin adnexa morphology	5700	PSMC1	OMIM:620071
HP:0011138	Abnormality of skin adnexa morphology	54828	BCAS3	OMIM:619641
HP:0011138	Abnormality of skin adnexa morphology	81887	LAS1L	ORPHA:3459
HP:0011138	Abnormality of skin adnexa morphology	81887	LAS1L	OMIM:309585
HP:0011138	Abnormality of skin adnexa morphology	4208	MEF2C	ORPHA:228384
HP:0011138	Abnormality of skin adnexa morphology	23162	MAPK8IP3	OMIM:618443
HP:0011138	Abnormality of skin adnexa morphology	7355	SLC35A2	OMIM:300896
HP:0011138	Abnormality of skin adnexa morphology	11160	ERLIN2	ORPHA:280384
HP:0011138	Abnormality of skin adnexa morphology	11160	ERLIN2	ORPHA:209951
HP:0011138	Abnormality of skin adnexa morphology	5979	RET	OMIM:162300
HP:0011138	Abnormality of skin adnexa morphology	10588	MTHFS	OMIM:618367
HP:0011138	Abnormality of skin adnexa morphology	23592	LEMD3	ORPHA:94063
HP:0011138	Abnormality of skin adnexa morphology	5718	PSMD12	ORPHA:529962
HP:0011138	Abnormality of skin adnexa morphology	50937	CDON	OMIM:614226
HP:0011138	Abnormality of skin adnexa morphology	23067	SETD1B	OMIM:619000
HP:0011138	Abnormality of skin adnexa morphology	114928	GPRASP2	OMIM:301018
HP:0011138	Abnormality of skin adnexa morphology	55023	PHIP	OMIM:617991
HP:0011138	Abnormality of skin adnexa morphology	26229	B3GAT3	OMIM:245600
HP:0011138	Abnormality of skin adnexa morphology	55331	ACER3	OMIM:617762
HP:0011138	Abnormality of skin adnexa morphology	10844	TUBGCP2	OMIM:618737
HP:0011138	Abnormality of skin adnexa morphology	58508	KMT2C	OMIM:617768
HP:0011138	Abnormality of skin adnexa morphology	10466	COG5	ORPHA:263487
HP:0011138	Abnormality of skin adnexa morphology	23241	PACS2	OMIM:618067
HP:0011138	Abnormality of skin adnexa morphology	7109	TRAPPC10	OMIM:620027
HP:0011138	Abnormality of skin adnexa morphology	10300	KATNB1	OMIM:616212
HP:0011138	Abnormality of skin adnexa morphology	7552	ZNF711	OMIM:300803
HP:0011138	Abnormality of skin adnexa morphology	2314	FLII	ORPHA:819
HP:0011138	Abnormality of skin adnexa morphology	23096	IQSEC2	ORPHA:819
HP:0011138	Abnormality of skin adnexa morphology	10743	RAI1	ORPHA:819
HP:0011138	Abnormality of skin adnexa morphology	10743	RAI1	OMIM:182290
HP:0011138	Abnormality of skin adnexa morphology	26153	KIF26A	OMIM:620156
HP:0011138	Abnormality of skin adnexa morphology	23036	ZNF292	OMIM:619188
HP:0011138	Abnormality of skin adnexa morphology	3340	NDST1	OMIM:616116
HP:0011138	Abnormality of skin adnexa morphology	84300	UQCC2	OMIM:615824
HP:0011138	Abnormality of skin adnexa morphology	3192	HNRNPU	ORPHA:238769
HP:0011138	Abnormality of skin adnexa morphology	26038	CHD5	OMIM:619873
HP:0011138	Abnormality of skin adnexa morphology	8558	CDK10	OMIM:617694
HP:0011138	Abnormality of skin adnexa morphology	5727	PTCH1	OMIM:610828
HP:0011138	Abnormality of skin adnexa morphology	56098	PCDHGC4	OMIM:619880
HP:0011138	Abnormality of skin adnexa morphology	7358	UGDH	OMIM:618792
HP:0011138	Abnormality of skin adnexa morphology	2556	GABRA3	OMIM:301091
HP:0011138	Abnormality of skin adnexa morphology	7030	TFE3	OMIM:301066
HP:0011138	Abnormality of skin adnexa morphology	6509	SLC1A4	ORPHA:447997
HP:0011138	Abnormality of skin adnexa morphology	7546	ZIC2	OMIM:609637
HP:0011138	Abnormality of skin adnexa morphology	6888	TALDO1	OMIM:606003
HP:0011138	Abnormality of skin adnexa morphology	51621	KLF13	OMIM:612001
HP:0011138	Abnormality of skin adnexa morphology	1139	CHRNA7	OMIM:612001
HP:0011138	Abnormality of skin adnexa morphology	55628	ZNF407	OMIM:619557
HP:0011138	Abnormality of skin adnexa morphology	9969	MED13	OMIM:618009
HP:0011138	Abnormality of skin adnexa morphology	2248	FGF3	ORPHA:90024
HP:0011138	Abnormality of skin adnexa morphology	80185	TTI2	OMIM:615541
HP:0011138	Abnormality of skin adnexa morphology	80185	TTI2	ORPHA:391307
HP:0011138	Abnormality of skin adnexa morphology	10771	ZMYND11	OMIM:616083
HP:0011138	Abnormality of skin adnexa morphology	5702	PSMC3	OMIM:619354
HP:0011138	Abnormality of skin adnexa morphology	3778	KCNMA1	OMIM:618729
HP:0011138	Abnormality of skin adnexa morphology	64802	NMNAT1	OMIM:619260
HP:0011138	Abnormality of skin adnexa morphology	11141	IL1RAPL1	OMIM:300143
HP:0011138	Abnormality of skin adnexa morphology	200879	LIPH	OMIM:604379
HP:0011138	Abnormality of skin adnexa morphology	54345	SOX18	OMIM:607823
HP:0011138	Abnormality of skin adnexa morphology	6144	RPL21	OMIM:615885
HP:0011138	Abnormality of skin adnexa morphology	112802	KRT71	OMIM:615896
HP:0011138	Abnormality of skin adnexa morphology	7700	ZNF141	OMIM:615226
HP:0011138	Abnormality of skin adnexa morphology	79574	EPS8L3	OMIM:612841
HP:0011138	Abnormality of skin adnexa morphology	10161	LPAR6	OMIM:278150
HP:0011138	Abnormality of skin adnexa morphology	3891	KRT85	OMIM:602032
HP:0011138	Abnormality of skin adnexa morphology	22827	PUF60	ORPHA:508498
HP:0011138	Abnormality of skin adnexa morphology	91949	COG7	OMIM:608779
HP:0011138	Abnormality of skin adnexa morphology	4558	MT-TF	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4572	MT-TQ	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4512	MT-CO1	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4513	MT-CO2	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4514	MT-CO3	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4578	MT-TW	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4540	MT-ND5	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4541	MT-ND6	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4535	MT-ND1	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4538	MT-ND4	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4567	MT-TL1	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4574	MT-TS1	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4575	MT-TS2	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	4564	MT-TH	ORPHA:550
HP:0011138	Abnormality of skin adnexa morphology	128869	PIGU	OMIM:618590
HP:0011138	Abnormality of skin adnexa morphology	4054	LTBP3	OMIM:601216
HP:0011138	Abnormality of skin adnexa morphology	526	ATP6V1B2	OMIM:616455
HP:0011138	Abnormality of skin adnexa morphology	79644	SRD5A3	OMIM:612379
HP:0011138	Abnormality of skin adnexa morphology	79644	SRD5A3	ORPHA:324737
HP:0011138	Abnormality of skin adnexa morphology	4784	NFIX	OMIM:602535
HP:0011138	Abnormality of skin adnexa morphology	65082	VPS33A	ORPHA:505248
HP:0011138	Abnormality of skin adnexa morphology	9630	GNA14	ORPHA:1063
HP:0011138	Abnormality of skin adnexa morphology	55967	NDUFA12	OMIM:618244
HP:0011138	Abnormality of skin adnexa morphology	55967	NDUFA12	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	57492	ARID1B	OMIM:135900
HP:0011138	Abnormality of skin adnexa morphology	57492	ARID1B	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	22930	RAB3GAP1	OMIM:600118
HP:0011138	Abnormality of skin adnexa morphology	4125	MAN2B1	OMIM:248500
HP:0011138	Abnormality of skin adnexa morphology	6601	SMARCC2	OMIM:618362
HP:0011138	Abnormality of skin adnexa morphology	6601	SMARCC2	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	3899	AFF3	OMIM:619297
HP:0011138	Abnormality of skin adnexa morphology	3643	INSR	OMIM:246200
HP:0011138	Abnormality of skin adnexa morphology	3643	INSR	OMIM:262190
HP:0011138	Abnormality of skin adnexa morphology	3643	INSR	ORPHA:508
HP:0011138	Abnormality of skin adnexa morphology	3643	INSR	ORPHA:769
HP:0011138	Abnormality of skin adnexa morphology	5119	CHMP1A	OMIM:614961
HP:0011138	Abnormality of skin adnexa morphology	6597	SMARCA4	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6597	SMARCA4	OMIM:614609
HP:0011138	Abnormality of skin adnexa morphology	6598	SMARCB1	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6598	SMARCB1	OMIM:614608
HP:0011138	Abnormality of skin adnexa morphology	6659	SOX4	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	8289	ARID1A	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	5977	DPF2	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6602	SMARCD1	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	196528	ARID2	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6605	SMARCE1	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6664	SOX11	ORPHA:1465
HP:0011138	Abnormality of skin adnexa morphology	6664	SOX11	OMIM:615866
HP:0011138	Abnormality of skin adnexa morphology	3858	KRT10	OMIM:609165
HP:0011138	Abnormality of skin adnexa morphology	84133	ZNRF3	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	7157	TP53	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	5573	PRKAR1A	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	1499	CTNNB1	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	1029	CDKN2A	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	7015	TERT	ORPHA:1501
HP:0011138	Abnormality of skin adnexa morphology	171023	ASXL1	ORPHA:97297
HP:0011138	Abnormality of skin adnexa morphology	171023	ASXL1	OMIM:605039
HP:0011138	Abnormality of skin adnexa morphology	283987	HID1	OMIM:619983
HP:0011138	Abnormality of skin adnexa morphology	633	BGN	OMIM:300989
HP:0011138	Abnormality of skin adnexa morphology	23028	KDM1A	ORPHA:477993
HP:0011138	Abnormality of skin adnexa morphology	57231	SNX14	OMIM:616354
HP:0011138	Abnormality of skin adnexa morphology	55148	UBR7	OMIM:619189
HP:0011138	Abnormality of skin adnexa morphology	51729	WBP11	OMIM:619227
HP:0011138	Abnormality of skin adnexa morphology	3782	KCNN3	OMIM:618658
HP:0011138	Abnormality of skin adnexa morphology	5498	PPOX	ORPHA:79473
HP:0011138	Abnormality of skin adnexa morphology	26040	SETBP1	OMIM:269150
HP:0011138	Abnormality of skin adnexa morphology	1075	CTSC	ORPHA:678
HP:0011138	Abnormality of skin adnexa morphology	50801	KCNK4	OMIM:618381
HP:0011138	Abnormality of skin adnexa morphology	1798	DPAGT1	ORPHA:86309
HP:0011138	Abnormality of skin adnexa morphology	10664	CTCF	ORPHA:363611
HP:0011138	Abnormality of skin adnexa morphology	9851	KIAA0753	OMIM:619479
HP:0011138	Abnormality of skin adnexa morphology	23512	SUZ12	OMIM:618786
HP:0011138	Abnormality of skin adnexa morphology	23461	ABCA5	OMIM:135400
HP:0011138	Abnormality of skin adnexa morphology	3572	IL6ST	OMIM:619750
HP:0011138	Abnormality of skin adnexa morphology	22931	RAB18	OMIM:614222
HP:0011138	Abnormality of skin adnexa morphology	29957	SLC25A24	OMIM:612289
HP:0011138	Abnormality of skin adnexa morphology	117581	TWIST2	OMIM:209885
HP:0011138	Abnormality of skin adnexa morphology	8239	USP9X	ORPHA:480880
HP:0011138	Abnormality of skin adnexa morphology	8239	USP9X	OMIM:300968
HP:0011138	Abnormality of skin adnexa morphology	5593	PRKG2	OMIM:619636
HP:0011138	Abnormality of skin adnexa morphology	150468	CKAP2L	OMIM:272440
HP:0011138	Abnormality of skin adnexa morphology	54499	TMCO1	OMIM:213980
HP:0011138	Abnormality of skin adnexa morphology	5293	PIK3CD	ORPHA:221139
HP:0011138	Abnormality of skin adnexa morphology	90417	KNSTRN	ORPHA:221139
HP:0011138	Abnormality of skin adnexa morphology	25915	NDUFAF3	ORPHA:70474
HP:0011138	Abnormality of skin adnexa morphology	4714	NDUFB8	ORPHA:70474
HP:0011138	Abnormality of skin adnexa morphology	4720	NDUFS2	ORPHA:70474
HP:0011138	Abnormality of skin adnexa morphology	4720	NDUFS2	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	9997	SCO2	ORPHA:70474
HP:0011138	Abnormality of skin adnexa morphology	6834	SURF1	ORPHA:70474
HP:0011138	Abnormality of skin adnexa morphology	6834	SURF1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	79796	ALG9	ORPHA:79328
HP:0011138	Abnormality of skin adnexa morphology	8314	BAP1	OMIM:619762
HP:0011138	Abnormality of skin adnexa morphology	374879	ZNF699	OMIM:619488
HP:0011138	Abnormality of skin adnexa morphology	5594	MAPK1	OMIM:619087
HP:0011138	Abnormality of skin adnexa morphology	10293	TRAIP	OMIM:616777
HP:0011138	Abnormality of skin adnexa morphology	641	BLM	OMIM:210900
HP:0011138	Abnormality of skin adnexa morphology	9772	TMEM94	OMIM:618316
HP:0011138	Abnormality of skin adnexa morphology	118924	FRA10AC1	OMIM:620113
HP:0011138	Abnormality of skin adnexa morphology	55252	ASXL2	OMIM:617190
HP:0011138	Abnormality of skin adnexa morphology	6389	SDHA	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	80704	SLC19A3	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	91942	NDUFAF2	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4723	NDUFV1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	55572	FOXRED1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4729	NDUFV2	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	51204	TACO1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4724	NDUFS4	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4728	NDUFS8	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	137682	NDUFAF6	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4722	NDUFS3	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	79133	NDUFAF5	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	5160	PDHA1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	100131801	PET100	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	1355	COX15	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	1892	ECHS1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	123263	MTFMT	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	51079	NDUFA13	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	374291	NDUFS7	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4705	NDUFA10	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	51601	LIPT1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4719	NDUFS1	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4695	NDUFA2	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4697	NDUFA4	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	4704	NDUFA9	ORPHA:255241
HP:0011138	Abnormality of skin adnexa morphology	7390	UROS	OMIM:263700
HP:0011138	Abnormality of skin adnexa morphology	54941	RNF125	OMIM:616260
HP:0011138	Abnormality of skin adnexa morphology	3423	IDS	OMIM:309900
HP:0011138	Abnormality of skin adnexa morphology	2720	GLB1	OMIM:230500
HP:0011138	Abnormality of skin adnexa morphology	138050	HGSNAT	OMIM:252930
HP:0011138	Abnormality of skin adnexa morphology	5468	PPARG	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	10555	AGPAT2	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	284119	CAVIN1	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	26580	BSCL2	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	2353	FOS	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	857	CAV1	ORPHA:528
HP:0011138	Abnormality of skin adnexa morphology	11011	TLK2	OMIM:618050
HP:0011138	Abnormality of skin adnexa morphology	6595	SMARCA2	OMIM:601358
HP:0011138	Abnormality of skin adnexa morphology	116150	NUS1	OMIM:617082
HP:0011138	Abnormality of skin adnexa morphology	127534	GJB4	OMIM:617524
HP:0011138	Abnormality of skin adnexa morphology	55315	SLC29A3	ORPHA:168569
HP:0011138	Abnormality of skin adnexa morphology	2719	GPC3	OMIM:312870
HP:0011138	Abnormality of skin adnexa morphology	2239	GPC4	OMIM:312870
HP:0011138	Abnormality of skin adnexa morphology	137492	VPS37A	OMIM:614898
HP:0011138	Abnormality of skin adnexa morphology	5696	PSMB8	OMIM:256040
HP:0011138	Abnormality of skin adnexa morphology	10128	LRPPRC	OMIM:220111
HP:0011138	Abnormality of skin adnexa morphology	6448	SGSH	OMIM:252900
HP:0011138	Abnormality of skin adnexa morphology	23394	ADNP	ORPHA:404448
HP:0011138	Abnormality of skin adnexa morphology	9210	BMP15	OMIM:300510
HP:0011138	Abnormality of skin adnexa morphology	124997	WDR81	OMIM:610185
HP:0011138	Abnormality of skin adnexa morphology	6885	MAP3K7	OMIM:617137
HP:0011138	Abnormality of skin adnexa morphology	6650	CAPN15	OMIM:619318
HP:0011138	Abnormality of skin adnexa morphology	2908	NR3C1	ORPHA:786
HP:0011138	Abnormality of skin adnexa morphology	2908	NR3C1	ORPHA:96253
HP:0011138	Abnormality of skin adnexa morphology	2908	NR3C1	OMIM:615962
HP:0011138	Abnormality of skin adnexa morphology	411	ARSB	OMIM:253200
HP:0011138	Abnormality of skin adnexa morphology	5447	POR	ORPHA:95699
HP:0011138	Abnormality of skin adnexa morphology	55593	OTUD5	OMIM:301056
HP:0011138	Abnormality of skin adnexa morphology	54453	RIN2	ORPHA:217335
HP:0011138	Abnormality of skin adnexa morphology	170302	ARX	OMIM:300004
HP:0011138	Abnormality of skin adnexa morphology	3097	HIVEP2	OMIM:616977
HP:0011138	Abnormality of skin adnexa morphology	3284	HSD3B2	ORPHA:90791
HP:0011138	Abnormality of skin adnexa morphology	4131	MAP1B	OMIM:618918
HP:0011138	Abnormality of skin adnexa morphology	50940	PDE11A	ORPHA:1359
HP:0011138	Abnormality of skin adnexa morphology	50940	PDE11A	ORPHA:189439
HP:0011138	Abnormality of skin adnexa morphology	1584	CYP11B1	ORPHA:90795
HP:0011138	Abnormality of skin adnexa morphology	6904	TBCD	ORPHA:496641
HP:0011138	Abnormality of skin adnexa morphology	84196	USP48	ORPHA:96253
HP:0011138	Abnormality of skin adnexa morphology	9101	USP8	ORPHA:96253
HP:0011138	Abnormality of skin adnexa morphology	9101	USP8	OMIM:219090
HP:0011138	Abnormality of skin adnexa morphology	64072	CDH23	ORPHA:96253
HP:0011138	Abnormality of skin adnexa morphology	546	ATRX	ORPHA:96253
HP:0011138	Abnormality of skin adnexa morphology	2530	FUT8	OMIM:618005
HP:0011138	Abnormality of skin adnexa morphology	8913	CACNA1G	OMIM:618087
HP:0011138	Abnormality of skin adnexa morphology	1020	CDK5	OMIM:616342
HP:0011138	Abnormality of skin adnexa morphology	7965	AIMP2	OMIM:618006
HP:0011138	Abnormality of skin adnexa morphology	84100	ARL6	OMIM:209900
HP:0011138	Abnormality of skin adnexa morphology	79140	CCDC28B	OMIM:209900
HP:0011138	Abnormality of skin adnexa morphology	582	BBS1	OMIM:209900
HP:0011138	Abnormality of skin adnexa morphology	1201	CLN3	ORPHA:228346
HP:0011138	Abnormality of skin adnexa morphology	114034	TOE1	OMIM:614969
HP:0011138	Abnormality of skin adnexa morphology	4323	MMP14	OMIM:277950
HP:0011138	Abnormality of skin adnexa morphology	4323	MMP14	ORPHA:371428
HP:0011138	Abnormality of skin adnexa morphology	3339	HSPG2	ORPHA:1865
HP:0011138	Abnormality of skin adnexa morphology	4313	MMP2	ORPHA:371428
HP:0011138	Abnormality of skin adnexa morphology	4313	MMP2	OMIM:259600
HP:0011138	Abnormality of skin adnexa morphology	7319	UBE2A	OMIM:300860
HP:0011138	Abnormality of skin adnexa morphology	54361	WNT4	OMIM:158330
HP:0011138	Abnormality of skin adnexa morphology	54361	WNT4	ORPHA:247768
HP:0011138	Abnormality of skin adnexa morphology	9509	ADAMTS2	OMIM:225410
HP:0011138	Abnormality of skin adnexa morphology	128637	TBC1D20	OMIM:615663
HP:0011138	Abnormality of skin adnexa morphology	4214	MAP3K1	OMIM:613762
HP:0011138	Abnormality of skin adnexa morphology	93627	TBCK	ORPHA:488632
HP:0011138	Abnormality of skin adnexa morphology	9049	AIP	OMIM:219090
HP:0011138	Abnormality of skin adnexa morphology	3425	IDUA	OMIM:607014
HP:0011138	Abnormality of skin adnexa morphology	3425	IDUA	OMIM:607015
HP:0011138	Abnormality of skin adnexa morphology	9563	H6PD	OMIM:604931
HP:0011138	Abnormality of skin adnexa morphology	7840	ALMS1	ORPHA:64
HP:0011138	Abnormality of skin adnexa morphology	1267	CNP	OMIM:619071
HP:0011138	Abnormality of skin adnexa morphology	6608	SMO	OMIM:601707
HP:0011138	Abnormality of skin adnexa morphology	10526	IPO8	OMIM:619472
HP:0011138	Abnormality of skin adnexa morphology	84504	NKX6-2	ORPHA:527497
HP:0011138	Abnormality of skin adnexa morphology	2737	GLI3	OMIM:175700
HP:0011138	Abnormality of skin adnexa morphology	8622	PDE8B	ORPHA:189439
HP:0011138	Abnormality of skin adnexa morphology	6134	RPL10	ORPHA:459070
HP:0011138	Abnormality of skin adnexa morphology	9060	PAPSS2	OMIM:612847
HP:0011138	Abnormality of skin adnexa morphology	5184	PEPD	ORPHA:742
HP:0011138	Abnormality of skin adnexa morphology	10236	HNRNPR	OMIM:620073
HP:0011138	Abnormality of skin adnexa morphology	55617	TASP1	OMIM:618950
HP:0011138	Abnormality of skin adnexa morphology	57477	SHROOM4	ORPHA:85288
HP:0011138	Abnormality of skin adnexa morphology	79798	ARMC5	ORPHA:189427
HP:0011138	Abnormality of skin adnexa morphology	2778	GNAS	ORPHA:189427
HP:0011138	Abnormality of skin adnexa morphology	9373	PLAA	ORPHA:521426
HP:0011138	Abnormality of skin adnexa morphology	9373	PLAA	OMIM:617527
HP:0011138	Abnormality of skin adnexa morphology	2799	GNS	OMIM:252940
HP:0011138	Abnormality of skin adnexa morphology	10020	GNE	OMIM:269921
HP:0011138	Abnormality of skin adnexa morphology	1315	COPB1	OMIM:619255
HP:0011138	Abnormality of skin adnexa morphology	2990	GUSB	OMIM:253220
HP:0011138	Abnormality of skin adnexa morphology	64919	BCL11B	OMIM:617237
HP:0011138	Abnormality of skin adnexa morphology	8481	OFD1	OMIM:300804
HP:0011138	Abnormality of skin adnexa morphology	54187	NANS	OMIM:610442
HP:0011138	Abnormality of skin adnexa morphology	51322	WAC	OMIM:616708
HP:0011138	Abnormality of skin adnexa morphology	51322	WAC	ORPHA:466950
HP:0011138	Abnormality of skin adnexa morphology	2492	FSHR	ORPHA:64739
HP:0011138	Abnormality of skin adnexa morphology	147372	CCBE1	OMIM:235510
HP:0011138	Abnormality of skin adnexa morphology	64131	XYLT1	ORPHA:370930
HP:0011138	Abnormality of skin adnexa morphology	55553	SOX6	OMIM:618971
HP:0011138	Abnormality of skin adnexa morphology	284361	EMC10	OMIM:619264
HP:0011138	Abnormality of skin adnexa morphology	84823	LMNB2	OMIM:608709
HP:0011138	Abnormality of skin adnexa morphology	29072	SETD2	OMIM:616831
HP:0011138	Abnormality of skin adnexa morphology	4669	NAGLU	OMIM:252920
HP:0011138	Abnormality of skin adnexa morphology	63915	BLOC1S5	OMIM:619172
HP:0011138	Abnormality of skin adnexa morphology	57724	EPG5	OMIM:242840
HP:0011138	Abnormality of skin adnexa morphology	8943	AP3D1	OMIM:617050
HP:0011138	Abnormality of skin adnexa morphology	83938	LRMDA	OMIM:615179
HP:0011138	Abnormality of skin adnexa morphology	11152	WDR45	OMIM:615179
HP:0011138	Abnormality of skin adnexa morphology	4948	OCA2	OMIM:203200
HP:0011138	Abnormality of skin adnexa morphology	4157	MC1R	OMIM:203200
HP:0011138	Abnormality of skin adnexa morphology	3257	HPS1	OMIM:203300
HP:0011138	Abnormality of skin adnexa morphology	51151	SLC45A2	OMIM:606574
HP:0011138	Abnormality of skin adnexa morphology	51151	SLC45A2	ORPHA:79435
HP:0011138	Abnormality of skin adnexa morphology	8546	AP3B1	OMIM:608233
HP:0011138	Abnormality of skin adnexa morphology	89781	HPS4	OMIM:614073
HP:0011138	Abnormality of skin adnexa morphology	11234	HPS5	OMIM:614074
HP:0011138	Abnormality of skin adnexa morphology	778	CACNA1F	OMIM:300600
HP:0011138	Abnormality of skin adnexa morphology	84343	HPS3	OMIM:614072
HP:0011138	Abnormality of skin adnexa morphology	7306	TYRP1	OMIM:203290
HP:0011138	Abnormality of skin adnexa morphology	79803	HPS6	OMIM:614075
HP:0011138	Abnormality of skin adnexa morphology	84062	DTNBP1	OMIM:614076
HP:0011138	Abnormality of skin adnexa morphology	54892	NCAPG2	OMIM:618460
HP:0011138	Abnormality of skin adnexa morphology	2767	GNA11	ORPHA:428
HP:0011138	Abnormality of skin adnexa morphology	846	CASR	ORPHA:428
HP:0011138	Abnormality of skin adnexa morphology	56983	POGLUT1	ORPHA:79145
HP:0011138	Abnormality of skin adnexa morphology	23509	POFUT1	ORPHA:79145
HP:0011138	Abnormality of skin adnexa morphology	55851	PSENEN	ORPHA:79145
HP:0011138	Abnormality of skin adnexa morphology	54790	TET2	ORPHA:75564
HP:0011138	Abnormality of skin adnexa morphology	23451	SF3B1	ORPHA:75564
HP:0011138	Abnormality of skin adnexa morphology	9555	MACROH2A1	ORPHA:1275
HP:0011138	Abnormality of skin adnexa morphology	5307	PITX1	ORPHA:1275
HP:0011138	Abnormality of skin adnexa morphology	162514	TRPV3	ORPHA:659
HP:0011138	Abnormality of skin adnexa morphology	8200	GDF5	ORPHA:93384
HP:0011138	Abnormality of skin adnexa morphology	658	BMPR1B	ORPHA:93384
HP:0011138	Abnormality of skin adnexa morphology	326	AIRE	ORPHA:3453
HP:0011138	Abnormality of skin adnexa morphology	57539	WDR35	ORPHA:1515
HP:0011138	Abnormality of skin adnexa morphology	51098	IFT52	ORPHA:1515
HP:0011138	Abnormality of skin adnexa morphology	3857	KRT9	ORPHA:2199
HP:0011138	Abnormality of skin adnexa morphology	6578	SLCO2A1	ORPHA:2796
HP:0011138	Abnormality of skin adnexa morphology	94	ACVRL1	OMIM:600376
HP:0011138	Abnormality of skin adnexa morphology	2022	ENG	OMIM:187300
HP:0011138	Abnormality of skin adnexa morphology	91754	NEK9	ORPHA:64754
HP:0011138	Abnormality of skin adnexa morphology	23630	KCNE5	ORPHA:86818
HP:0011138	Abnormality of skin adnexa morphology	2182	ACSL4	ORPHA:86818
HP:0011138	Abnormality of skin adnexa morphology	9949	AMMECR1	ORPHA:86818
HP:0011138	Abnormality of skin adnexa morphology	3709	ITPR2	OMIM:106190
HP:0011138	Abnormality of skin adnexa morphology	6716	SRD5A2	OMIM:264600
HP:0011138	Abnormality of skin adnexa morphology	5167	ENPP1	OMIM:615522
HP:0011138	Abnormality of skin adnexa morphology	1019	CDK4	ORPHA:618
HP:0011138	Abnormality of skin adnexa morphology	4255	MGMT	ORPHA:618
HP:0011138	Abnormality of skin adnexa morphology	54386	TERF2IP	ORPHA:618
HP:0011138	Abnormality of skin adnexa morphology	25913	POT1	ORPHA:618
HP:0011138	Abnormality of skin adnexa morphology	1030	CDKN2B	ORPHA:618
HP:0011138	Abnormality of skin adnexa morphology	4942	OAT	ORPHA:414
HP:0011138	Abnormality of skin adnexa morphology	4854	NOTCH3	ORPHA:2591
HP:0011138	Abnormality of skin adnexa morphology	5159	PDGFRB	ORPHA:2591
HP:0011138	Abnormality of skin adnexa morphology	64377	CHST8	OMIM:616265
HP:0011138	Abnormality of skin adnexa morphology	3973	LHCGR	ORPHA:3000
HP:0011138	Abnormality of skin adnexa morphology	92344	GORAB	OMIM:231070
HP:0011138	Abnormality of skin adnexa morphology	1476	CSTB	ORPHA:248
HP:0011138	Abnormality of skin adnexa morphology	224	ALDH3A2	OMIM:270200
HP:0011138	Abnormality of skin adnexa morphology	5083	PAX9	OMIM:604625
HP:0011138	Abnormality of skin adnexa morphology	3848	KRT1	ORPHA:50942
HP:0011138	Abnormality of skin adnexa morphology	3848	KRT1	OMIM:607654
HP:0011138	Abnormality of skin adnexa morphology	118429	ANTXR2	ORPHA:2028
HP:0011138	Abnormality of skin adnexa morphology	80781	COL18A1	ORPHA:1571
HP:0011138	Abnormality of skin adnexa morphology	5062	PAK2	ORPHA:1571
HP:0011138	Abnormality of skin adnexa morphology	6023	RMRP	OMIM:250460
HP:0011138	Abnormality of skin adnexa morphology	3123	HLA-DRB1	ORPHA:397
HP:0011138	Abnormality of skin adnexa morphology	3123	HLA-DRB1	ORPHA:797
HP:0011138	Abnormality of skin adnexa morphology	8974	P4HA2	ORPHA:397
HP:0011138	Abnormality of skin adnexa morphology	7421	VDR	ORPHA:93160
HP:0011138	Abnormality of skin adnexa morphology	51099	ABHD5	OMIM:275630
HP:0011138	Abnormality of skin adnexa morphology	51099	ABHD5	ORPHA:98907
HP:0011138	Abnormality of skin adnexa morphology	4790	NFKB1	OMIM:616576
HP:0011138	Abnormality of skin adnexa morphology	3141	HLCS	OMIM:253270
HP:0011138	Abnormality of skin adnexa morphology	3141	HLCS	ORPHA:79242
HP:0011138	Abnormality of skin adnexa morphology	90	ACVR1	OMIM:135100
HP:0011138	Abnormality of skin adnexa morphology	90	ACVR1	ORPHA:337
HP:0011138	Abnormality of skin adnexa morphology	7780	SLC30A2	OMIM:608118
HP:0011138	Abnormality of skin adnexa morphology	284058	KANSL1	ORPHA:363958
HP:0011138	Abnormality of skin adnexa morphology	284058	KANSL1	ORPHA:363965
HP:0011138	Abnormality of skin adnexa morphology	50814	NSDHL	OMIM:308050
HP:0011138	Abnormality of skin adnexa morphology	686	BTD	OMIM:253260
HP:0011138	Abnormality of skin adnexa morphology	686	BTD	ORPHA:79241
HP:0011138	Abnormality of skin adnexa morphology	3117	HLA-DQA1	OMIM:212750
HP:0011138	Abnormality of skin adnexa morphology	3119	HLA-DQB1	OMIM:212750
HP:0011138	Abnormality of skin adnexa morphology	64087	MCCC2	OMIM:210210
HP:0011138	Abnormality of skin adnexa morphology	5191	PEX7	OMIM:215100
HP:0011138	Abnormality of skin adnexa morphology	1281	COL3A1	ORPHA:286
HP:0011138	Abnormality of skin adnexa morphology	215	ABCD1	OMIM:300100
HP:0011138	Abnormality of skin adnexa morphology	2313	FLI1	OMIM:617443
HP:0011138	Abnormality of skin adnexa morphology	374393	FAM111B	OMIM:615704
HP:0011138	Abnormality of skin adnexa morphology	165	AEBP1	ORPHA:536532
HP:0011138	Abnormality of skin adnexa morphology	55131	RBM28	ORPHA:157954
HP:0011138	Abnormality of skin adnexa morphology	55131	RBM28	OMIM:612079
HP:0011138	Abnormality of skin adnexa morphology	23312	DMXL2	ORPHA:453533
HP:0011138	Abnormality of skin adnexa morphology	1909	EDNRA	OMIM:616367
HP:0011138	Abnormality of skin adnexa morphology	80067	DCAF17	ORPHA:3464
HP:0011138	Abnormality of skin adnexa morphology	80067	DCAF17	OMIM:241080
HP:0011138	Abnormality of skin adnexa morphology	51284	TLR7	OMIM:301080
HP:0011138	Abnormality of skin adnexa morphology	64421	DCLRE1C	OMIM:603554
HP:0011138	Abnormality of skin adnexa morphology	64421	DCLRE1C	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	5896	RAG1	OMIM:603554
HP:0011138	Abnormality of skin adnexa morphology	5896	RAG1	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	5897	RAG2	OMIM:603554
HP:0011138	Abnormality of skin adnexa morphology	5897	RAG2	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	3575	IL7R	ORPHA:169154
HP:0011138	Abnormality of skin adnexa morphology	3575	IL7R	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	4256	MGP	ORPHA:85202
HP:0011138	Abnormality of skin adnexa morphology	695	BTK	ORPHA:47
HP:0011138	Abnormality of skin adnexa morphology	50943	FOXP3	ORPHA:37042
HP:0011138	Abnormality of skin adnexa morphology	50943	FOXP3	OMIM:304790
HP:0011138	Abnormality of skin adnexa morphology	5654	HTRA1	OMIM:600142
HP:0011138	Abnormality of skin adnexa morphology	60529	ALX4	ORPHA:228390
HP:0011138	Abnormality of skin adnexa morphology	7507	XPA	ORPHA:910
HP:0011138	Abnormality of skin adnexa morphology	7508	XPC	ORPHA:910
HP:0011138	Abnormality of skin adnexa morphology	1643	DDB2	ORPHA:910
HP:0011138	Abnormality of skin adnexa morphology	2072	ERCC4	ORPHA:910
HP:0011138	Abnormality of skin adnexa morphology	2073	ERCC5	ORPHA:910
HP:0011138	Abnormality of skin adnexa morphology	6775	STAT4	ORPHA:93552
HP:0011138	Abnormality of skin adnexa morphology	6696	SPP1	ORPHA:93552
HP:0011138	Abnormality of skin adnexa morphology	3654	IRAK1	ORPHA:93552
HP:0011138	Abnormality of skin adnexa morphology	4312	MMP1	OMIM:226600
HP:0011138	Abnormality of skin adnexa morphology	8882	ZPR1	OMIM:619321
HP:0011138	Abnormality of skin adnexa morphology	114798	SLITRK1	OMIM:613229
HP:0011138	Abnormality of skin adnexa morphology	10651	MTX2	ORPHA:90153
HP:0011138	Abnormality of skin adnexa morphology	22845	DOLK	OMIM:610768
HP:0011138	Abnormality of skin adnexa morphology	23328	SASH1	OMIM:618373
HP:0011138	Abnormality of skin adnexa morphology	56244	BTNL2	ORPHA:797
HP:0011138	Abnormality of skin adnexa morphology	650	BMP2	OMIM:235200
HP:0011138	Abnormality of skin adnexa morphology	5580	PRKCD	OMIM:615559
HP:0011138	Abnormality of skin adnexa morphology	100	ADA	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	3561	IL2RG	ORPHA:39041
HP:0011138	Abnormality of skin adnexa morphology	84905	ZNF341	OMIM:618282
HP:0011138	Abnormality of skin adnexa morphology	5295	PIK3R1	ORPHA:3163
HP:0011138	Abnormality of skin adnexa morphology	10273	STUB1	ORPHA:412057
HP:0011138	Abnormality of skin adnexa morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011138	Abnormality of skin adnexa morphology	8815	BANF1	OMIM:614008
HP:0011138	Abnormality of skin adnexa morphology	5144	PDE4D	ORPHA:950
HP:0011138	Abnormality of skin adnexa morphology	1727	CYB5R3	ORPHA:621
HP:0011138	Abnormality of skin adnexa morphology	79719	AAGAB	OMIM:148600
HP:0011138	Abnormality of skin adnexa morphology	2517	FUCA1	ORPHA:349
HP:0011138	Abnormality of skin adnexa morphology	79092	CARD14	ORPHA:2897
HP:0011138	Abnormality of skin adnexa morphology	3106	HLA-B	ORPHA:29207
HP:0011138	Abnormality of skin adnexa morphology	56916	SMARCAD1	ORPHA:384
HP:0011138	Abnormality of skin adnexa morphology	176	ACAN	ORPHA:171866
HP:0011138	Abnormality of skin adnexa morphology	11277	TREX1	OMIM:610448
HP:0011138	Abnormality of skin adnexa morphology	54539	NDUFB11	ORPHA:2556
HP:0011138	Abnormality of skin adnexa morphology	1349	COX7B	ORPHA:2556
HP:0011138	Abnormality of skin adnexa morphology	3052	HCCS	ORPHA:2556
HP:0011138	Abnormality of skin adnexa morphology	3081	HGD	ORPHA:56
HP:0011138	Abnormality of skin adnexa morphology	6898	TAT	ORPHA:28378
HP:0011138	Abnormality of skin adnexa morphology	204219	CERS3	ORPHA:79394
HP:0011138	Abnormality of skin adnexa morphology	285848	PNPLA1	ORPHA:79394
HP:0011138	Abnormality of skin adnexa morphology	348938	NIPAL4	ORPHA:79394
HP:0011138	Abnormality of skin adnexa morphology	348938	NIPAL4	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	7051	TGM1	ORPHA:79394
HP:0011138	Abnormality of skin adnexa morphology	7051	TGM1	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	51776	MAP3K20	ORPHA:488232
HP:0011138	Abnormality of skin adnexa morphology	1493	CTLA4	ORPHA:2584
HP:0011138	Abnormality of skin adnexa morphology	940	CD28	ORPHA:2584
HP:0011138	Abnormality of skin adnexa morphology	7133	TNFRSF1B	ORPHA:2584
HP:0011138	Abnormality of skin adnexa morphology	9333	TGM5	OMIM:609796
HP:0011138	Abnormality of skin adnexa morphology	151516	ASPRV1	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	126410	CYP4F22	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	6820	SULT2B1	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	643418	LIPN	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	121214	SDR9C7	ORPHA:313
HP:0011138	Abnormality of skin adnexa morphology	2254	FGF9	ORPHA:3237
HP:0011138	Abnormality of skin adnexa morphology	9488	PIGB	OMIM:618580
HP:0011138	Abnormality of skin adnexa morphology	84529	CDIN1	OMIM:615631
HP:0011138	Abnormality of skin adnexa morphology	84942	WDR73	OMIM:251300
HP:0011138	Abnormality of skin adnexa morphology	51412	ACTL6B	OMIM:618470
HP:0011138	Abnormality of skin adnexa morphology	55784	MCTP2	ORPHA:1596
HP:0011138	Abnormality of skin adnexa morphology	7102	TSPAN7	OMIM:300210
HP:0011138	Abnormality of skin adnexa morphology	10940	POP1	OMIM:617396
HP:0011138	Abnormality of skin adnexa morphology	727857	BHLHA9	OMIM:607539
HP:0011138	Abnormality of skin adnexa morphology	5277	PIGA	OMIM:300868
HP:0011138	Abnormality of skin adnexa morphology	84065	TMEM222	OMIM:619470
HP:0011138	Abnormality of skin adnexa morphology	8493	PPM1D	OMIM:617450
HP:0011138	Abnormality of skin adnexa morphology	5828	PEX2	OMIM:614866
HP:0011138	Abnormality of skin adnexa morphology	9719	ADAMTSL2	OMIM:231050
HP:0011138	Abnormality of skin adnexa morphology	388015	RTL1	ORPHA:96334
HP:0011138	Abnormality of skin adnexa morphology	8788	DLK1	ORPHA:96334
HP:0011138	Abnormality of skin adnexa morphology	55384	MEG3	ORPHA:96334
HP:0011138	Abnormality of skin adnexa morphology	79087	ALG12	ORPHA:79324
HP:0011138	Abnormality of skin adnexa morphology	10195	ALG3	OMIM:601110
HP:0011138	Abnormality of skin adnexa morphology	25886	POC1A	OMIM:614813
HP:0011138	Abnormality of skin adnexa morphology	10075	HUWE1	OMIM:309590
HP:0011138	Abnormality of skin adnexa morphology	3021	H3-3B	OMIM:619721
HP:0011138	Abnormality of skin adnexa morphology	1889	ECE1	OMIM:613870
HP:0011138	Abnormality of skin adnexa morphology	72	ACTG2	ORPHA:2604
HP:0011138	Abnormality of skin adnexa morphology	343637	RSPO4	OMIM:206800
HP:0011138	Abnormality of skin adnexa morphology	4882	NPR2	OMIM:602875
HP:0011138	Abnormality of skin adnexa morphology	2317	FLNB	OMIM:150250
HP:0011138	Abnormality of skin adnexa morphology	2317	FLNB	ORPHA:503
HP:0011138	Abnormality of skin adnexa morphology	3981	LIG4	ORPHA:235
HP:0011138	Abnormality of skin adnexa morphology	54888	NSUN2	ORPHA:235
HP:0011138	Abnormality of skin adnexa morphology	81607	NECTIN4	OMIM:613573
HP:0011138	Abnormality of skin adnexa morphology	9894	TELO2	ORPHA:488642
HP:0011138	Abnormality of skin adnexa morphology	6804	STX1A	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	7461	CLIP2	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	84277	DNAJC30	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	8468	FKBP6	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	5982	RFC2	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	2969	GTF2I	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	3984	LIMK1	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	9569	GTF2IRD1	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	155382	VPS37D	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	155368	METTL27	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	114049	BUD23	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	7458	EIF4H	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	84163	GTF2IRD2	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	9275	BCL7B	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	26608	TBL2	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	653361	NCF1	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	135886	TMEM270	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	51085	MLXIPL	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	9031	BAZ1B	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	2006	ELN	ORPHA:904
HP:0011138	Abnormality of skin adnexa morphology	3636	INPPL1	ORPHA:3144
HP:0011138	Abnormality of skin adnexa morphology	23169	SLC35D1	ORPHA:3144
HP:0011138	Abnormality of skin adnexa morphology	7750	ZMYM2	OMIM:619522
HP:0011138	Abnormality of skin adnexa morphology	79971	WLS	OMIM:619648
HP:0011138	Abnormality of skin adnexa morphology	79068	FTO	OMIM:612938
HP:0011138	Abnormality of skin adnexa morphology	7547	ZIC3	OMIM:306955
HP:0011138	Abnormality of skin adnexa morphology	1376	CPT2	OMIM:608836
HP:0011138	Abnormality of skin adnexa morphology	1984	EIF5A	OMIM:619376
HP:0011138	Abnormality of skin adnexa morphology	2260	FGFR1	OMIM:166250
HP:0011138	Abnormality of skin adnexa morphology	1801	DPH1	OMIM:616901
HP:0011138	Abnormality of skin adnexa morphology	1801	DPH1	ORPHA:459061
HP:0011138	Abnormality of skin adnexa morphology	26123	TCTN3	ORPHA:2753
HP:0011138	Abnormality of skin adnexa morphology	64324	NSD1	ORPHA:3447
HP:0011138	Abnormality of skin adnexa morphology	8726	EED	ORPHA:3447
HP:0011138	Abnormality of skin adnexa morphology	2146	EZH2	ORPHA:3447
HP:0011138	Abnormality of skin adnexa morphology	5566	PRKACA	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	5567	PRKACB	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	2735	GLI1	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	2121	EVC	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	2121	EVC	ORPHA:952
HP:0011138	Abnormality of skin adnexa morphology	51626	DYNC2LI1	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	132884	EVC2	ORPHA:289
HP:0011138	Abnormality of skin adnexa morphology	132884	EVC2	ORPHA:952
HP:0011138	Abnormality of skin adnexa morphology	5500	PPP1CB	ORPHA:2701
HP:0011138	Abnormality of skin adnexa morphology	613	BCR	ORPHA:261330
HP:0011138	Abnormality of skin adnexa morphology	1399	CRKL	ORPHA:261330
HP:0011138	Abnormality of skin adnexa morphology	7476	WNT7A	OMIM:228930
HP:0011138	Abnormality of skin adnexa morphology	4038	LRP4	ORPHA:3258
HP:0011138	Abnormality of skin adnexa morphology	324	APC	ORPHA:3258
HP:0011138	Abnormality of skin adnexa morphology	6197	RPS6KA3	ORPHA:192
HP:0011138	Abnormality of skin adnexa morphology	5281	PIGF	OMIM:619356
HP:0011138	Abnormality of skin adnexa morphology	57061	HYMAI	ORPHA:96191
HP:0011138	Abnormality of skin adnexa morphology	5325	PLAGL1	ORPHA:96191
HP:0011138	Abnormality of skin adnexa morphology	9791	PTDSS1	ORPHA:2658
HP:0011138	Abnormality of skin adnexa morphology	23556	PIGN	ORPHA:2059
HP:0011138	Abnormality of skin adnexa morphology	23556	PIGN	ORPHA:280633
HP:0011138	Abnormality of skin adnexa morphology	23219	FBXO28	OMIM:619777
HP:0011138	Abnormality of skin adnexa morphology	80152	CENPT	OMIM:618702
HP:0011138	Abnormality of skin adnexa morphology	84720	PIGO	OMIM:614749
HP:0011138	Abnormality of skin adnexa morphology	9897	WASHC5	ORPHA:7
HP:0011138	Abnormality of skin adnexa morphology	28952	CCDC22	ORPHA:7
HP:0011138	Abnormality of skin adnexa morphology	7020	TFAP2A	OMIM:113620
HP:0011138	Abnormality of skin adnexa morphology	6473	SHOX	ORPHA:240
HP:0011138	Abnormality of skin adnexa morphology	1301	COL11A1	OMIM:228520
HP:0011138	Abnormality of skin adnexa morphology	1301	COL11A1	ORPHA:2021
HP:0011138	Abnormality of skin adnexa morphology	3481	IGF2	ORPHA:397590
HP:0011138	Abnormality of skin adnexa morphology	1028	CDKN1C	ORPHA:397590
HP:0011138	Abnormality of skin adnexa morphology	5324	PLAG1	ORPHA:397590
HP:0011138	Abnormality of skin adnexa morphology	8091	HMGA2	ORPHA:397590
HP:0011138	Abnormality of skin adnexa morphology	2263	FGFR2	OMIM:123790
HP:0011138	Abnormality of skin adnexa morphology	1302	COL11A2	ORPHA:2021
HP:0011138	Abnormality of skin adnexa morphology	3516	RBPJ	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	4851	NOTCH1	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	57514	ARHGAP31	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	57572	DOCK6	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	285203	EOGT	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	54567	DLL4	ORPHA:974
HP:0011138	Abnormality of skin adnexa morphology	58499	ZNF462	OMIM:618619
HP:0011138	Abnormality of skin adnexa morphology	168667	BMPER	OMIM:608022
HP:0011138	Abnormality of skin adnexa morphology	8323	FZD6	OMIM:161050
HP:0011138	Abnormality of skin adnexa morphology	3852	KRT5	OMIM:131960
HP:0011138	Abnormality of skin adnexa morphology	3852	KRT5	ORPHA:79396
HP:0011138	Abnormality of skin adnexa morphology	3889	KRT83	OMIM:617756
HP:0011138	Abnormality of skin adnexa morphology	57728	WDR19	OMIM:614378
HP:0011138	Abnormality of skin adnexa morphology	3868	KRT16	OMIM:167200
HP:0011138	Abnormality of skin adnexa morphology	4014	LORICRIN	ORPHA:79395
HP:0011138	Abnormality of skin adnexa morphology	57688	ZSWIM6	OMIM:603671
HP:0011138	Abnormality of skin adnexa morphology	64135	IFIH1	OMIM:182250
HP:0011138	Abnormality of skin adnexa morphology	3107	HLA-C	OMIM:177900
HP:0011138	Abnormality of skin adnexa morphology	3077	HFE	OMIM:176100
HP:0011138	Abnormality of skin adnexa morphology	3675	ITGA3	OMIM:614748
HP:0011138	Abnormality of skin adnexa morphology	1828	DSG1	OMIM:148700
HP:0011138	Abnormality of skin adnexa morphology	64840	PORCN	OMIM:305600
HP:0011138	Abnormality of skin adnexa morphology	1513	CTSK	OMIM:265800
HP:0011138	Abnormality of skin adnexa morphology	1513	CTSK	ORPHA:763
HP:0011138	Abnormality of skin adnexa morphology	8456	FOXN1	OMIM:601705
HP:0011138	Abnormality of skin adnexa morphology	8456	FOXN1	ORPHA:169095
HP:0011138	Abnormality of skin adnexa morphology	545	ATR	OMIM:614564
HP:0011138	Abnormality of skin adnexa morphology	10913	EDAR	OMIM:129490
HP:0011138	Abnormality of skin adnexa morphology	4010	LMX1B	OMIM:161200
HP:0011138	Abnormality of skin adnexa morphology	55630	SLC39A4	ORPHA:37
HP:0011138	Abnormality of skin adnexa morphology	55612	FERMT1	OMIM:173650
HP:0011138	Abnormality of skin adnexa morphology	26277	TINF2	OMIM:127550
HP:0011138	Abnormality of skin adnexa morphology	7012	TERC	OMIM:127550
HP:0011138	Abnormality of skin adnexa morphology	818	CAMK2G	OMIM:618522
HP:0011138	Abnormality of skin adnexa morphology	6603	SMARCD2	OMIM:617475
HP:0011138	Abnormality of skin adnexa morphology	57152	SLURP1	OMIM:248300
HP:0011138	Abnormality of skin adnexa morphology	23309	SIN3B	ORPHA:500166
HP:0011138	Abnormality of skin adnexa morphology	25942	SIN3A	ORPHA:500166
HP:0011138	Abnormality of skin adnexa morphology	25942	SIN3A	OMIM:613406
HP:0011138	Abnormality of skin adnexa morphology	1747	DLX3	OMIM:190320
HP:0011138	Abnormality of skin adnexa morphology	1747	DLX3	ORPHA:3352
HP:0011138	Abnormality of skin adnexa morphology	1294	COL7A1	ORPHA:158676
HP:0011138	Abnormality of skin adnexa morphology	162	AP1B1	OMIM:242150
HP:0011138	Abnormality of skin adnexa morphology	2512	FTL	ORPHA:254704
HP:0011138	Abnormality of skin adnexa morphology	341208	HEPHL1	OMIM:261990
HP:0011138	Abnormality of skin adnexa morphology	5587	PRKD1	OMIM:617364
HP:0011138	Abnormality of skin adnexa morphology	23545	ATP6V0A2	OMIM:278250
HP:0011138	Abnormality of skin adnexa morphology	404672	GTF2H5	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	833	CARS1	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	2068	ERCC2	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	6897	TARS1	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	2071	ERCC3	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	2961	GTF2E2	ORPHA:33364
HP:0011138	Abnormality of skin adnexa morphology	1736	DKC1	OMIM:305000
HP:0011138	Abnormality of skin adnexa morphology	7879	RAB7A	OMIM:600882
HP:0011138	Abnormality of skin adnexa morphology	860	RUNX2	ORPHA:1452
HP:0011138	Abnormality of skin adnexa morphology	667	DST	OMIM:615425
HP:0011138	Abnormality of skin adnexa morphology	5818	NECTIN1	ORPHA:3253
HP:0011138	Abnormality of skin adnexa morphology	53834	FGFRL1	OMIM:194190
HP:0011138	Abnormality of skin adnexa morphology	242	ALOX12B	OMIM:242100
HP:0011138	Abnormality of skin adnexa morphology	59344	ALOXE3	OMIM:242100
HP:0011138	Abnormality of skin adnexa morphology	816	CAMK2B	OMIM:617799
HP:0011138	Abnormality of skin adnexa morphology	9896	FIG4	OMIM:216340
HP:0011138	Abnormality of skin adnexa morphology	9241	NOG	ORPHA:140908
HP:0011138	Abnormality of skin adnexa morphology	6774	STAT3	ORPHA:2314
HP:0011138	Abnormality of skin adnexa morphology	54463	RETREG1	OMIM:201300
HP:0011138	Abnormality of skin adnexa morphology	65125	WNK1	OMIM:201300
HP:0011138	Abnormality of skin adnexa morphology	6335	SCN9A	OMIM:201300
HP:0011138	Abnormality of skin adnexa morphology	547	KIF1A	OMIM:201300
HP:0011138	Abnormality of skin adnexa morphology	3872	KRT17	ORPHA:2309
HP:0011138	Abnormality of skin adnexa morphology	3853	KRT6A	ORPHA:2309
HP:0011138	Abnormality of skin adnexa morphology	3854	KRT6B	ORPHA:2309
HP:0011138	Abnormality of skin adnexa morphology	1053	CEBPE	OMIM:260570
HP:0011138	Abnormality of skin adnexa morphology	26154	ABCA12	OMIM:601277
HP:0011138	Abnormality of skin adnexa morphology	831	CAST	OMIM:616295
HP:0011138	Abnormality of skin adnexa morphology	25959	KANK2	OMIM:616099
HP:0011138	Abnormality of skin adnexa morphology	2697	GJA1	OMIM:617525
HP:0011138	Abnormality of skin adnexa morphology	2697	GJA1	OMIM:104100
HP:0011138	Abnormality of skin adnexa morphology	5333	PLCD1	OMIM:151600
HP:0011138	Abnormality of skin adnexa morphology	3832	KIF11	ORPHA:2526
HP:0011138	Abnormality of skin adnexa morphology	1825	DSC3	OMIM:613102
HP:0011138	Abnormality of skin adnexa morphology	7227	TRPS1	OMIM:190350
HP:0011138	Abnormality of skin adnexa morphology	7227	TRPS1	ORPHA:77258
HP:0011138	Abnormality of skin adnexa morphology	488	ATP2A2	ORPHA:79151
HP:0011138	Abnormality of skin adnexa morphology	1832	DSP	OMIM:615821
HP:0011138	Abnormality of skin adnexa morphology	8517	IKBKG	ORPHA:464
HP:0011138	Abnormality of skin adnexa morphology	84818	IL17RC	ORPHA:1334
HP:0011138	Abnormality of skin adnexa morphology	64581	CLEC7A	ORPHA:1334
HP:0011138	Abnormality of skin adnexa morphology	23765	IL17RA	ORPHA:1334
HP:0011138	Abnormality of skin adnexa morphology	10758	TRAF3IP2	ORPHA:1334
HP:0011138	Abnormality of skin adnexa morphology	112744	IL17F	ORPHA:1334
HP:0011138	Abnormality of skin adnexa morphology	3248	HPGD	ORPHA:217059
HP:0011138	Abnormality of skin adnexa morphology	3549	IHH	OMIM:607778
HP:0011138	Abnormality of skin adnexa morphology	3549	IHH	ORPHA:63446
HP:0011138	Abnormality of skin adnexa morphology	112752	IFT43	OMIM:614099
HP:0011138	Abnormality of skin adnexa morphology	2273	FHL1	OMIM:300280
HP:0011138	Abnormality of skin adnexa morphology	64132	XYLT2	OMIM:605822
HP:0011138	Abnormality of skin adnexa morphology	64132	XYLT2	ORPHA:85194
HP:0011138	Abnormality of skin adnexa morphology	161742	SPRED1	OMIM:611431
HP:0011138	Abnormality of skin adnexa morphology	1000	CDH2	OMIM:618929
HP:0011138	Abnormality of skin adnexa morphology	392255	GDF6	OMIM:118100
HP:0011138	Abnormality of skin adnexa morphology	392255	GDF6	ORPHA:2345
HP:0011138	Abnormality of skin adnexa morphology	79005	SCNM1	OMIM:620107
HP:0011138	Abnormality of skin adnexa morphology	4849	CNOT3	OMIM:618672
HP:0011138	Abnormality of skin adnexa morphology	226	ALDOA	OMIM:611881
HP:0011138	Abnormality of skin adnexa morphology	4222	MEOX1	OMIM:214300
HP:0011138	Abnormality of skin adnexa morphology	4222	MEOX1	ORPHA:2345
HP:0011138	Abnormality of skin adnexa morphology	80267	EDEM3	OMIM:619493
HP:0011138	Abnormality of skin adnexa morphology	23133	PHF8	ORPHA:85287
HP:0011138	Abnormality of skin adnexa morphology	23133	PHF8	OMIM:300263
HP:0011138	Abnormality of skin adnexa morphology	84700	MYO18B	OMIM:616549
HP:0011138	Abnormality of skin adnexa morphology	4621	MYH3	ORPHA:2990
HP:0011138	Abnormality of skin adnexa morphology	1146	CHRNG	ORPHA:2990
HP:0011138	Abnormality of skin adnexa morphology	9573	GDF3	ORPHA:2345
HP:0011138	Abnormality of skin adnexa morphology	27152	INTU	OMIM:617925
HP:0011138	Abnormality of skin adnexa morphology	55733	HHAT	OMIM:600092
HP:0011138	Abnormality of skin adnexa morphology	123041	SLC24A4	OMIM:615887
HP:0011138	Abnormality of skin adnexa morphology	6786	STIM1	OMIM:612783
HP:0011138	Abnormality of skin adnexa morphology	5264	PHYH	ORPHA:773
HP:0011138	Abnormality of skin adnexa morphology	8813	DPM1	OMIM:608799
HP:0011138	Abnormality of skin adnexa morphology	8813	DPM1	ORPHA:79322
HP:0011138	Abnormality of skin adnexa morphology	652	BMP4	ORPHA:139471
HP:0011138	Abnormality of skin adnexa morphology	11342	RNF13	ORPHA:544503
HP:0011138	Abnormality of skin adnexa morphology	285362	SUMF1	ORPHA:585
HP:0011138	Abnormality of skin adnexa morphology	55027	HEATR3	OMIM:620072
HP:0011138	Abnormality of skin adnexa morphology	84520	GON7	OMIM:619603
HP:0011138	Abnormality of skin adnexa morphology	10484	SEC23A	ORPHA:50814
HP:0011138	Abnormality of skin adnexa morphology	10484	SEC23A	OMIM:607812
HP:0011138	Abnormality of skin adnexa morphology	523	ATP6V1A	ORPHA:357074
HP:0011138	Abnormality of skin adnexa morphology	529	ATP6V1E1	ORPHA:357074
HP:0011138	Abnormality of skin adnexa morphology	22800	RRAS2	ORPHA:648
HP:0011138	Abnormality of skin adnexa morphology	6237	RRAS	ORPHA:648
HP:0011138	Abnormality of skin adnexa morphology	22808	MRAS	ORPHA:648
HP:0011138	Abnormality of skin adnexa morphology	5922	RASA2	ORPHA:648
HP:0011138	Abnormality of skin adnexa morphology	497661	C18orf32	OMIM:619985
HP:0011138	Abnormality of skin adnexa morphology	8985	PLOD3	OMIM:612394
HP:0011138	Abnormality of skin adnexa morphology	875	CBS	ORPHA:394
HP:0011138	Abnormality of skin adnexa morphology	54084	TSPEAR	OMIM:618180
HP:0011138	Abnormality of skin adnexa morphology	10054	UBA2	OMIM:619959
HP:0011138	Abnormality of skin adnexa morphology	775	CACNA1C	OMIM:620029
HP:0011138	Abnormality of skin adnexa morphology	267010	RNU12	OMIM:603116
HP:0011138	Abnormality of skin adnexa morphology	4792	NFKBIA	OMIM:612132
HP:0011138	Abnormality of skin adnexa morphology	26128	KIFBP	ORPHA:66629
HP:0011138	Abnormality of skin adnexa morphology	81857	MED25	ORPHA:464738
HP:0011138	Abnormality of skin adnexa morphology	7703	PCGF2	OMIM:618371
HP:0011138	Abnormality of skin adnexa morphology	55697	VAC14	ORPHA:3472
HP:0011138	Abnormality of skin adnexa morphology	4914	NTRK1	OMIM:256800
HP:0011138	Abnormality of skin adnexa morphology	9419	CRIPT	OMIM:615789
HP:0011138	Abnormality of skin adnexa morphology	79669	C3orf52	OMIM:620177
HP:0011138	Abnormality of skin adnexa morphology	11285	B4GALT7	ORPHA:75496
HP:0011138	Abnormality of skin adnexa morphology	11285	B4GALT7	OMIM:130070
HP:0011138	Abnormality of skin adnexa morphology	2131	EXT1	ORPHA:502
HP:0011138	Abnormality of skin adnexa morphology	126792	B3GALT6	OMIM:271640
HP:0011138	Abnormality of skin adnexa morphology	1062	CENPE	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	5932	RBBP8	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	79902	NUP85	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	84126	ATRIP	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	55835	CENPJ	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	22995	CEP152	ORPHA:808
HP:0011138	Abnormality of skin adnexa morphology	64858	DCLRE1B	OMIM:620133
HP:0011138	Abnormality of skin adnexa morphology	3480	IGF1R	OMIM:270450
HP:0011138	Abnormality of skin adnexa morphology	56896	DPYSL5	OMIM:619435
HP:0011138	Abnormality of skin adnexa morphology	8216	LZTR1	OMIM:616564
HP:0011138	Abnormality of skin adnexa morphology	8216	LZTR1	OMIM:605275
HP:0011138	Abnormality of skin adnexa morphology	6016	RIT1	OMIM:615355
HP:0011138	Abnormality of skin adnexa morphology	5894	RAF1	OMIM:611554
HP:0011138	Abnormality of skin adnexa morphology	5894	RAF1	OMIM:611553
HP:0011138	Abnormality of skin adnexa morphology	10430	TMEM147	OMIM:620075
HP:0011138	Abnormality of skin adnexa morphology	10087	CERT1	OMIM:616351
HP:0011138	Abnormality of skin adnexa morphology	8621	CDK13	OMIM:617360
HP:0011138	Abnormality of skin adnexa morphology	3188	HNRNPH2	OMIM:300986
HP:0011138	Abnormality of skin adnexa morphology	2475	MTOR	ORPHA:457485
HP:0011138	Abnormality of skin adnexa morphology	2475	MTOR	OMIM:616638
HP:0011138	Abnormality of skin adnexa morphology	200734	SPRED2	OMIM:619745
HP:0011138	Abnormality of skin adnexa morphology	6655	SOS2	OMIM:616559
HP:0011138	Abnormality of skin adnexa morphology	2972	BRF1	OMIM:616202
HP:0011138	Abnormality of skin adnexa morphology	2972	BRF1	ORPHA:444072
HP:0011138	Abnormality of skin adnexa morphology	5831	PYCR1	OMIM:614438
HP:0011138	Abnormality of skin adnexa morphology	4952	OCRL	ORPHA:534
HP:0011138	Abnormality of skin adnexa morphology	79158	GNPTAB	ORPHA:576
HP:0011138	Abnormality of skin adnexa morphology	51132	RLIM	OMIM:300978
HP:0011138	Abnormality of skin adnexa morphology	6821	SUOX	OMIM:272300
HP:0011138	Abnormality of skin adnexa morphology	9056	SLC7A7	OMIM:222700
HP:0011138	Abnormality of skin adnexa morphology	10522	DEAF1	OMIM:615828
HP:0011138	Abnormality of skin adnexa morphology	9487	PIGL	ORPHA:3474
HP:0011138	Abnormality of skin adnexa morphology	9487	PIGL	OMIM:280000
HP:0011138	Abnormality of skin adnexa morphology	57459	GATAD2B	ORPHA:363686
HP:0011138	Abnormality of skin adnexa morphology	4089	SMAD4	OMIM:139210
HP:0011138	Abnormality of skin adnexa morphology	23522	KAT6B	ORPHA:85201
HP:0011138	Abnormality of skin adnexa morphology	54676	GTPBP2	OMIM:617988
HP:0011138	Abnormality of skin adnexa morphology	50485	SMARCAL1	OMIM:242900
HP:0011138	Abnormality of skin adnexa morphology	5116	PCNT	ORPHA:2637
HP:0011138	Abnormality of skin adnexa morphology	51594	NBAS	OMIM:614800
HP:0011138	Abnormality of skin adnexa morphology	3242	HPD	ORPHA:2118
HP:0011138	Abnormality of skin adnexa morphology	867	CBL	OMIM:613563
HP:0011138	Abnormality of skin adnexa morphology	81603	TRIM8	OMIM:619428
HP:0011138	Abnormality of skin adnexa morphology	147495	APCDD1	OMIM:605389
HP:0011138	Abnormality of skin adnexa morphology	9508	ADAMTS3	ORPHA:2136
HP:0011138	Abnormality of skin adnexa morphology	79633	FAT4	ORPHA:2136
HP:0011138	Abnormality of skin adnexa morphology	3122	HLA-DRA	ORPHA:505
HP:0011138	Abnormality of skin adnexa morphology	284252	KCTD1	OMIM:181270
HP:0011138	Abnormality of skin adnexa morphology	2488	FSHB	ORPHA:52901
HP:0011138	Abnormality of skin adnexa morphology	3972	LHB	OMIM:228300
HP:0011138	Abnormality of skin adnexa morphology	1528	CYB5A	ORPHA:90796
HP:0011138	Abnormality of skin adnexa morphology	9723	SEMA3E	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	558	AXL	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	2798	GNRHR	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	2796	GNRH1	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	10011	SRA1	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	55717	WDR11	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	8822	FGF17	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	1848	DUSP6	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	81848	SPRY4	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	285025	CCDC141	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	389549	FEZF1	OMIM:146110
HP:0011138	Abnormality of skin adnexa morphology	6662	SOX9	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	6845	VAMP7	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	51741	WWOX	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	2516	NR5A1	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	7490	WT1	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	58524	DMRT3	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	57647	DHX37	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	6736	SRY	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	23414	ZFPM2	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	190	NR0B1	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	2626	GATA4	ORPHA:251510
HP:0011138	Abnormality of skin adnexa morphology	23594	ORC6	OMIM:613803
HP:0011138	Abnormality of skin adnexa morphology	83932	SPRTN	OMIM:616200
HP:0011138	Abnormality of skin adnexa morphology	1161	ERCC8	ORPHA:90324
HP:0011138	Abnormality of skin adnexa morphology	2074	ERCC6	ORPHA:90324
HP:0011138	Abnormality of skin adnexa morphology	7486	WRN	ORPHA:902
HP:0011138	Abnormality of skin adnexa morphology	472	ATM	ORPHA:100
HP:0011138	Abnormality of skin adnexa morphology	79991	STN1	OMIM:617341
HP:0011138	Abnormality of skin adnexa morphology	5073	PARN	OMIM:616371
HP:0011138	Abnormality of skin adnexa morphology	5073	PARN	ORPHA:3322
HP:0011138	Abnormality of skin adnexa morphology	5073	PARN	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	4286	MITF	OMIM:193510
HP:0011138	Abnormality of skin adnexa morphology	4286	MITF	ORPHA:897
HP:0011138	Abnormality of skin adnexa morphology	4286	MITF	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	6663	SOX10	OMIM:613266
HP:0011138	Abnormality of skin adnexa morphology	6663	SOX10	ORPHA:897
HP:0011138	Abnormality of skin adnexa morphology	6663	SOX10	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	6663	SOX10	ORPHA:163746
HP:0011138	Abnormality of skin adnexa morphology	6663	SOX10	OMIM:611584
HP:0011138	Abnormality of skin adnexa morphology	1908	EDN3	OMIM:613265
HP:0011138	Abnormality of skin adnexa morphology	1908	EDN3	ORPHA:897
HP:0011138	Abnormality of skin adnexa morphology	6117	RPA1	OMIM:619767
HP:0011138	Abnormality of skin adnexa morphology	1910	EDNRB	OMIM:277580
HP:0011138	Abnormality of skin adnexa morphology	1910	EDNRB	ORPHA:897
HP:0011138	Abnormality of skin adnexa morphology	1910	EDNRB	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	7299	TYR	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	6591	SNAI2	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	4254	KITLG	ORPHA:895
HP:0011138	Abnormality of skin adnexa morphology	4254	KITLG	OMIM:619947
HP:0011138	Abnormality of skin adnexa morphology	5077	PAX3	ORPHA:894
HP:0011138	Abnormality of skin adnexa morphology	5077	PAX3	OMIM:193500
HP:0011138	Abnormality of skin adnexa morphology	5077	PAX3	OMIM:148820
HP:0011138	Abnormality of skin adnexa morphology	4193	MDM2	OMIM:618681
HP:0011138	Abnormality of skin adnexa morphology	79184	BRCC3	ORPHA:280679
HP:0011138	Abnormality of skin adnexa morphology	51750	RTEL1	ORPHA:3322
HP:0011138	Abnormality of skin adnexa morphology	51750	RTEL1	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	65057	ACD	ORPHA:3322
HP:0011138	Abnormality of skin adnexa morphology	4507	MTAP	OMIM:112250
HP:0011138	Abnormality of skin adnexa morphology	80169	CTC1	OMIM:612199
HP:0011138	Abnormality of skin adnexa morphology	80169	CTC1	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	55651	NHP2	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	79650	USB1	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	55135	WRAP53	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	4869	NPM1	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	55505	NOP10	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	7298	TYMS	ORPHA:1775
HP:0011138	Abnormality of skin adnexa morphology	355	FAS	ORPHA:3437
HP:0011138	Abnormality of skin adnexa morphology	26191	PTPN22	ORPHA:3437
HP:0011138	Abnormality of skin adnexa morphology	8884	SLC5A6	OMIM:619903
HP:0011138	Abnormality of skin adnexa morphology	147409	DSG4	ORPHA:573
HP:0011138	Abnormality of skin adnexa morphology	3892	KRT86	ORPHA:573
HP:0011138	Abnormality of skin adnexa morphology	3887	KRT81	ORPHA:573
HP:0011138	Abnormality of skin adnexa morphology	1474	CST6	OMIM:618535
HP:0011138	Abnormality of skin adnexa morphology	7025	NR2F1	OMIM:615722
HP:0011138	Abnormality of skin adnexa morphology	55764	IFT122	OMIM:218330
HP:0011138	Abnormality of skin adnexa morphology	25778	DSTYK	ORPHA:101003
HP:0011138	Abnormality of skin adnexa morphology	1130	LYST	OMIM:214500
HP:0011138	Abnormality of skin adnexa morphology	79083	MLPH	OMIM:609227
HP:0011138	Abnormality of skin adnexa morphology	388552	BLOC1S3	OMIM:614077
HP:0011138	Abnormality of skin adnexa morphology	145173	B3GLCT	OMIM:261540
HP:0011138	Abnormality of skin adnexa morphology	5873	RAB27A	OMIM:607624
HP:0011138	Abnormality of skin adnexa morphology	4644	MYO5A	OMIM:214450
HP:0011138	Abnormality of skin adnexa morphology	26137	ZBTB20	OMIM:259050
HP:0011138	Abnormality of skin adnexa morphology	4047	LSS	OMIM:618275
HP:0011138	Abnormality of skin adnexa morphology	348	APOE	OMIM:269600
HP:0011138	Abnormality of skin adnexa morphology	6635	SNRPE	OMIM:615059
HP:0011138	Abnormality of skin adnexa morphology	367	AR	ORPHA:99429
HP:0011138	Abnormality of skin adnexa morphology	1586	CYP17A1	ORPHA:90793
HP:0011138	Abnormality of skin adnexa morphology	5317	PKP1	OMIM:604536
HP:0011138	Abnormality of skin adnexa morphology	4953	ODC1	OMIM:619075
HP:0011138	Abnormality of skin adnexa morphology	4953	ODC1	ORPHA:544488
HP:0011138	Abnormality of skin adnexa morphology	8313	AXIN2	OMIM:608615
HP:0011138	Abnormality of skin adnexa morphology	3728	JUP	ORPHA:158687
HP:0011138	Abnormality of skin adnexa morphology	3845	KRAS	OMIM:615278
HP:0011138	Abnormality of skin adnexa morphology	673	BRAF	OMIM:115150
HP:0011138	Abnormality of skin adnexa morphology	8092	ALX1	OMIM:613456
HP:0011138	Abnormality of skin adnexa morphology	128178	EDARADD	OMIM:614941
HP:0011138	Abnormality of skin adnexa morphology	64682	ANAPC1	OMIM:618625
HP:0011138	Abnormality of skin adnexa morphology	11128	POLR3A	OMIM:264090
HP:0011138	Abnormality of skin adnexa morphology	80144	FRAS1	OMIM:219000
HP:0011138	Abnormality of skin adnexa morphology	55806	HR	ORPHA:701
HP:0011138	Abnormality of skin adnexa morphology	55806	HR	OMIM:203655
HP:0011138	Abnormality of skin adnexa morphology	10283	CWC27	ORPHA:166035
HP:0011138	Abnormality of skin adnexa morphology	9401	RECQL4	OMIM:268400
HP:0011138	Abnormality of skin adnexa morphology	4000	LMNA	ORPHA:740
HP:0011138	Abnormality of skin adnexa morphology	4000	LMNA	ORPHA:363618
HP:0011138	Abnormality of skin adnexa morphology	10269	ZMPSTE24	ORPHA:740
HP:0011138	Abnormality of skin adnexa morphology	5605	MAP2K2	OMIM:615280
HP:0011138	Abnormality of skin adnexa morphology	84946	LTV1	OMIM:620199
HP:0011138	Abnormality of skin adnexa morphology	1896	EDA	OMIM:305100
HP:0011138	Abnormality of skin adnexa morphology	5297	PI4KA	ORPHA:436252
HP:0011138	Abnormality of skin adnexa morphology	57217	TTC7A	ORPHA:436252
HP:0011138	Abnormality of skin adnexa morphology	54101	RIPK4	OMIM:263650
HP:0011138	Abnormality of skin adnexa morphology	89910	UBE3B	ORPHA:2707
HP:0011138	Abnormality of skin adnexa morphology	16	AARS1	OMIM:619691
HP:0011138	Abnormality of skin adnexa morphology	147183	KRT25	ORPHA:170
HP:0011138	Abnormality of skin adnexa morphology	1947	EFNB1	ORPHA:1520
HP:0011138	Abnormality of skin adnexa morphology	8139	GAN	ORPHA:643
HP:0011138	Abnormality of skin adnexa morphology	538	ATP7A	ORPHA:565
HP:0011138	Abnormality of skin adnexa morphology	3265	HRAS	ORPHA:3071
HP:0011138	Abnormality of skin adnexa morphology	136647	MPLKIP	OMIM:234050
HP:0011138	Abnormality of skin adnexa morphology	7286	TUFT1	OMIM:607655
HP:0011138	Abnormality of skin adnexa morphology	1829	DSG2	OMIM:610193
HP:0011138	Abnormality of skin adnexa morphology	91875	TTC5	OMIM:619244
HP:0011138	Abnormality of skin adnexa morphology	64065	PERP	OMIM:619209
HP:0011138	Abnormality of skin adnexa morphology	64065	PERP	OMIM:619208
HP:0011138	Abnormality of skin adnexa morphology	1824	DSC2	OMIM:610476
HP:0011138	Abnormality of skin adnexa morphology	5604	MAP2K1	OMIM:163950
HP:0011138	Abnormality of skin adnexa morphology	5781	PTPN11	OMIM:163950
HP:0011138	Abnormality of skin adnexa morphology	668	FOXL2	OMIM:110100
HP:0011138	Abnormality of skin adnexa morphology	29893	PSMC3IP	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	171568	POLR3H	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	125150	ZSWIM7	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	57122	NUP107	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	23514	SPIDR	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	56945	MRPS22	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	646	BNC1	ORPHA:243
HP:0011138	Abnormality of skin adnexa morphology	3730	ANOS1	OMIM:308700
HP:0011138	Abnormality of skin adnexa morphology	3815	KIT	ORPHA:2884
HP:0011138	Abnormality of skin adnexa morphology	92482	BBIP1	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	80184	CEP290	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	11020	IFT27	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	49855	SCAPER	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	4867	NPHP1	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	51057	WDPCP	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	27241	BBS9	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	84984	CEP19	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	22954	TRIM32	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	54903	MKS1	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	79738	BBS10	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	123016	TTC8	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	26160	IFT172	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	583	BBS2	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	585	BBS4	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	8195	MKKS	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	54585	LZTFL1	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	55212	BBS7	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	166379	BBS12	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	10806	SDCCAG8	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	157657	CFAP418	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	129880	BBS5	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	80173	IFT74	ORPHA:110
HP:0011138	Abnormality of skin adnexa morphology	5590	PRKCZ	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	2563	GABRD	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	8510	MMP23B	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	7798	LUZP1	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	6497	SKI	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	10630	PDPN	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	10277	UBE4B	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	8514	KCNAB2	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	473	RERE	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	63976	PRDM16	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	54897	CASZ1	ORPHA:1606
HP:0011138	Abnormality of skin adnexa morphology	207	AKT1	ORPHA:744
HP:0011138	Abnormality of skin adnexa morphology	63916	ELMO2	ORPHA:3019
HP:0011138	Abnormality of skin adnexa morphology	7291	TWIST1	OMIM:617746
HP:0011138	Abnormality of skin adnexa morphology	3664	IRF6	ORPHA:1300
HP:0011138	Abnormality of skin adnexa morphology	83550	GPR101	ORPHA:963
HP:0011138	Abnormality of skin adnexa morphology	25782	RAB3GAP2	ORPHA:2510
HP:0011138	Abnormality of skin adnexa morphology	8604	SLC25A12	OMIM:612949
HP:0011138	Abnormality of skin adnexa morphology	203068	TUBB	ORPHA:2505
HP:0011138	Abnormality of skin adnexa morphology	10982	MAPRE2	ORPHA:2505
HP:0011138	Abnormality of skin adnexa morphology	2707	GJB3	ORPHA:317
HP:0011138	Abnormality of skin adnexa morphology	2531	KDSR	ORPHA:317
HP:0011138	Abnormality of skin adnexa morphology	8803	SUCLA2	ORPHA:1933
HP:0011138	Abnormality of skin adnexa morphology	1588	CYP19A1	ORPHA:91
HP:0011138	Abnormality of skin adnexa morphology	128674	PROKR2	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	2253	FGF8	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	60675	PROK2	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	55636	CHD7	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	6870	TACR3	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	26012	NSMF	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	9394	HS6ST1	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	84634	KISS1R	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	6866	TAC3	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	3814	KISS1	ORPHA:432
HP:0011138	Abnormality of skin adnexa morphology	54800	KLHL24	OMIM:617294
HP:0011138	Abnormality of skin adnexa morphology	197	AHSG	ORPHA:2850
HP:0011138	Abnormality of skin adnexa morphology	3694	ITGB6	ORPHA:2850
HP:0011138	Abnormality of skin adnexa morphology	60401	EDA2R	ORPHA:181
HP:0011138	Abnormality of skin adnexa morphology	2332	FMR1	ORPHA:261483
HP:0011138	Abnormality of skin adnexa morphology	6768	ST14	OMIM:602400
HP:0011138	Abnormality of skin adnexa morphology	7189	TRAF6	ORPHA:1810
HP:0011138	Abnormality of skin adnexa morphology	8242	KDM5C	OMIM:300534
HP:0011138	Abnormality of skin adnexa morphology	8242	KDM5C	ORPHA:85279
HP:0011138	Abnormality of skin adnexa morphology	1893	ECM1	OMIM:247100
HP:0011138	Abnormality of skin adnexa morphology	23404	EXOSC2	OMIM:617763
HP:0011138	Abnormality of skin adnexa morphology	28755	TRAC	OMIM:615387
HP:0011138	Abnormality of skin adnexa morphology	3559	IL2RA	OMIM:606367
HP:0011138	Abnormality of skin adnexa morphology	84168	ANTXR1	ORPHA:2067
HP:0011138	Abnormality of skin adnexa morphology	7528	YY1	ORPHA:506358
HP:0011138	Abnormality of skin adnexa morphology	7528	YY1	OMIM:617557
HP:0011138	Abnormality of skin adnexa morphology	5422	POLA1	OMIM:301220
HP:0011138	Abnormality of skin adnexa morphology	9759	HDAC4	OMIM:619797
HP:0011138	Abnormality of skin adnexa morphology	8473	OGT	OMIM:300997
HP:0011138	Abnormality of skin adnexa morphology	815	CAMK2A	OMIM:617798
HP:0011138	Abnormality of skin adnexa morphology	9968	MED12	ORPHA:93932
HP:0011138	Abnormality of skin adnexa morphology	9968	MED12	OMIM:305450
HP:0011138	Abnormality of skin adnexa morphology	23389	MED13L	ORPHA:369891
HP:0011138	Abnormality of skin adnexa morphology	7681	MKRN3	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	3653	IPW	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	54551	MAGEL2	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	791114	PWRN1	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	100033413	SNORD116-1	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	8924	HERC2	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	145624	PWAR1	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	23742	NPAP1	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	338433	SNORD115-1	OMIM:176270
HP:0011138	Abnormality of skin adnexa morphology	2316	FLNA	OMIM:300321
HP:0011138	Abnormality of skin adnexa morphology	7204	TRIO	OMIM:617061
HP:0011138	Abnormality of skin adnexa morphology	197131	UBR1	OMIM:243800
HP:0011138	Abnormality of skin adnexa morphology	9742	IFT140	OMIM:266920
HP:0011138	Abnormality of skin adnexa morphology	27086	FOXP1	ORPHA:391372
HP:0011138	Abnormality of skin adnexa morphology	9758	FRMPD4	OMIM:300983
HP:0011138	Abnormality of skin adnexa morphology	55012	PPP2R3C	OMIM:618419
HP:0011138	Abnormality of skin adnexa morphology	6925	TCF4	OMIM:610954
HP:0011138	Abnormality of skin adnexa morphology	26503	SLC17A5	OMIM:269920
HP:0011138	Abnormality of skin adnexa morphology	283652	SLC24A5	OMIM:113750
HP:0011138	Abnormality of skin adnexa morphology	6901	TAFAZZIN	OMIM:302060
HP:0011138	Abnormality of skin adnexa morphology	20	ABCA2	OMIM:618808
HP:0011138	Abnormality of skin adnexa morphology	7555	CNBP	OMIM:602668
HP:0011138	Abnormality of skin adnexa morphology	1760	DMPK	OMIM:160900
HP:0011138	Abnormality of skin adnexa morphology	6513	SLC2A1	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	8831	SYNGAP1	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	1173	AP2M1	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	6323	SCN1A	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	340533	NEXMIF	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	1106	CHD2	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	6529	SLC6A1	ORPHA:1942
HP:0011138	Abnormality of skin adnexa morphology	10999	SLC27A4	OMIM:608649
HP:0011138	Abnormality of skin adnexa morphology	5122	PCSK1	ORPHA:71528
HP:0011138	Abnormality of skin adnexa morphology	5443	POMC	OMIM:609734
HP:0011138	Abnormality of skin adnexa morphology	5443	POMC	ORPHA:71526
HP:0011138	Abnormality of skin adnexa morphology	51095	TRNT1	OMIM:616084
HP:0011138	Abnormality of skin adnexa morphology	222663	SCUBE3	OMIM:619184
HP:0011138	Abnormality of skin adnexa morphology	8294	H4C9	OMIM:619951
HP:0011138	Abnormality of skin adnexa morphology	50651	SLC45A1	OMIM:617532
HP:0011138	Abnormality of skin adnexa morphology	23334	SZT2	OMIM:615476
HP:0011138	Abnormality of skin adnexa morphology	7021	TFAP2B	OMIM:169100
HP:0011138	Abnormality of skin adnexa morphology	23322	RPGRIP1L	ORPHA:220497
HP:0011138	Abnormality of skin adnexa morphology	23322	RPGRIP1L	ORPHA:1454
HP:0011138	Abnormality of skin adnexa morphology	65062	TMEM237	ORPHA:220497
HP:0011138	Abnormality of skin adnexa morphology	65062	TMEM237	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	65062	TMEM237	OMIM:614424
HP:0011138	Abnormality of skin adnexa morphology	65062	TMEM237	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	54806	AHI1	ORPHA:220493
HP:0011138	Abnormality of skin adnexa morphology	54806	AHI1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	54806	AHI1	OMIM:608629
HP:0011138	Abnormality of skin adnexa morphology	56623	INPP5E	ORPHA:220493
HP:0011138	Abnormality of skin adnexa morphology	56623	INPP5E	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	56623	INPP5E	OMIM:213300
HP:0011138	Abnormality of skin adnexa morphology	56623	INPP5E	ORPHA:1454
HP:0011138	Abnormality of skin adnexa morphology	153241	CEP120	ORPHA:220493
HP:0011138	Abnormality of skin adnexa morphology	153241	CEP120	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	95681	CEP41	ORPHA:220493
HP:0011138	Abnormality of skin adnexa morphology	95681	CEP41	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	23384	SPECC1L	ORPHA:1519
HP:0011138	Abnormality of skin adnexa morphology	23384	SPECC1L	OMIM:145420
HP:0011138	Abnormality of skin adnexa morphology	55650	PIGV	OMIM:239300
HP:0011138	Abnormality of skin adnexa morphology	55650	PIGV	ORPHA:247262
HP:0011138	Abnormality of skin adnexa morphology	84992	PIGY	ORPHA:247262
HP:0011138	Abnormality of skin adnexa morphology	93210	PGAP3	ORPHA:247262
HP:0011138	Abnormality of skin adnexa morphology	284098	PIGW	ORPHA:247262
HP:0011138	Abnormality of skin adnexa morphology	27315	PGAP2	ORPHA:247262
HP:0011138	Abnormality of skin adnexa morphology	317662	FAM149B1	OMIM:618763
HP:0011138	Abnormality of skin adnexa morphology	317662	FAM149B1	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	10584	COLEC10	OMIM:248340
HP:0011138	Abnormality of skin adnexa morphology	10584	COLEC10	ORPHA:293843
HP:0011138	Abnormality of skin adnexa morphology	9469	CHST3	OMIM:143095
HP:0011138	Abnormality of skin adnexa morphology	9469	CHST3	ORPHA:263463
HP:0011138	Abnormality of skin adnexa morphology	54880	BCOR	ORPHA:2712
HP:0011138	Abnormality of skin adnexa morphology	23184	MESD	OMIM:618644
HP:0011138	Abnormality of skin adnexa morphology	23325	WASHC4	OMIM:615817
HP:0011138	Abnormality of skin adnexa morphology	9839	ZEB2	ORPHA:261552
HP:0011138	Abnormality of skin adnexa morphology	4330	MN1	OMIM:618774
HP:0011138	Abnormality of skin adnexa morphology	1656	DDX6	OMIM:618653
HP:0011138	Abnormality of skin adnexa morphology	26053	AUTS2	ORPHA:352490
HP:0011138	Abnormality of skin adnexa morphology	26053	AUTS2	OMIM:615834
HP:0011138	Abnormality of skin adnexa morphology	1009	CDH11	ORPHA:1299
HP:0011138	Abnormality of skin adnexa morphology	79600	TCTN1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	79848	CSPP1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	51684	SUFU	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	65250	CPLANE1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	65250	CPLANE1	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	91147	TMEM67	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	91147	TMEM67	ORPHA:1454
HP:0011138	Abnormality of skin adnexa morphology	200894	ARL13B	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	9731	CEP104	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	219844	HYLS1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	23247	KATNIP	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	219854	TMEM218	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	9786	KIAA0586	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	79867	TCTN2	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	80776	B9D2	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	10464	PIBF1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	80210	ARMC9	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	23116	TOGARAM1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	25776	CBY1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	27077	B9D1	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	403	ARL3	ORPHA:475
HP:0011138	Abnormality of skin adnexa morphology	403	ARL3	OMIM:618161
HP:0011138	Abnormality of skin adnexa morphology	5792	PTPRF	OMIM:616001
HP:0011138	Abnormality of skin adnexa morphology	8363	H4C11	OMIM:619759
HP:0011138	Abnormality of skin adnexa morphology	78989	COLEC11	OMIM:265050
HP:0011138	Abnormality of skin adnexa morphology	78989	COLEC11	ORPHA:293843
HP:0011138	Abnormality of skin adnexa morphology	10472	ZBTB18	OMIM:612337
HP:0011138	Abnormality of skin adnexa morphology	3187	HNRNPH1	OMIM:620083
HP:0011138	Abnormality of skin adnexa morphology	4123	MAN2C1	OMIM:619775
HP:0011138	Abnormality of skin adnexa morphology	23483	TGDS	ORPHA:1388
HP:0011138	Abnormality of skin adnexa morphology	79791	FBXO31	OMIM:615979
HP:0011138	Abnormality of skin adnexa morphology	22856	CHSY1	OMIM:605282
HP:0011138	Abnormality of skin adnexa morphology	8295	TRRAP	OMIM:618454
HP:0011138	Abnormality of skin adnexa morphology	9427	ECEL1	OMIM:615065
HP:0011138	Abnormality of skin adnexa morphology	84188	FAR1	OMIM:616154
HP:0011138	Abnormality of skin adnexa morphology	84188	FAR1	ORPHA:438178
HP:0011138	Abnormality of skin adnexa morphology	2702	GJA5	OMIM:612474
HP:0011138	Abnormality of skin adnexa morphology	2703	GJA8	OMIM:612474
HP:0011138	Abnormality of skin adnexa morphology	157570	ESCO2	OMIM:216100
HP:0011138	Abnormality of skin adnexa morphology	157570	ESCO2	ORPHA:2319
HP:0011138	Abnormality of skin adnexa morphology	54517	PUS7	OMIM:618342
HP:0011138	Abnormality of skin adnexa morphology	5648	MASP1	OMIM:257920
HP:0011138	Abnormality of skin adnexa morphology	5648	MASP1	ORPHA:293843
HP:0011138	Abnormality of skin adnexa morphology	92335	STRADA	ORPHA:500533
HP:0011138	Abnormality of skin adnexa morphology	79813	EHMT1	ORPHA:96147
HP:0011138	Abnormality of skin adnexa morphology	113179	ADAT3	ORPHA:363528
HP:0011138	Abnormality of skin adnexa morphology	3313	HSPA9	OMIM:616854
HP:0011138	Abnormality of skin adnexa morphology	998	CDC42	OMIM:616737
HP:0011138	Abnormality of skin adnexa morphology	998	CDC42	ORPHA:487796
HP:0011138	Abnormality of skin adnexa morphology	56975	FAM20C	OMIM:259775
HP:0011138	Abnormality of skin adnexa morphology	26999	CYFIP2	OMIM:618008
HP:0011138	Abnormality of skin adnexa morphology	79583	TMEM231	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	51524	TMEM138	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	23090	ZNF423	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	51259	TMEM216	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	51259	TMEM216	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	57545	CC2D2A	ORPHA:2318
HP:0011138	Abnormality of skin adnexa morphology	57545	CC2D2A	ORPHA:1454
HP:0011138	Abnormality of skin adnexa morphology	60	ACTB	OMIM:243310
HP:0011138	Abnormality of skin adnexa morphology	60	ACTB	ORPHA:2995
HP:0011138	Abnormality of skin adnexa morphology	71	ACTG1	OMIM:614583
HP:0011138	Abnormality of skin adnexa morphology	71	ACTG1	ORPHA:2995
HP:0011138	Abnormality of skin adnexa morphology	348180	CTU2	OMIM:618142
HP:0011138	Abnormality of skin adnexa morphology	94005	PIGS	OMIM:618143
HP:0011138	Abnormality of skin adnexa morphology	1457	CSNK2A1	OMIM:617062
HP:0011138	Abnormality of skin adnexa morphology	2571	GAD1	OMIM:619124
HP:0011138	Abnormality of skin adnexa morphology	6472	SHMT2	OMIM:619121
HP:0011138	Abnormality of skin adnexa morphology	113246	C12orf57	OMIM:218340
HP:0011138	Abnormality of skin adnexa morphology	259266	ASPM	OMIM:608716
HP:0011138	Abnormality of skin adnexa morphology	57020	VPS35L	OMIM:619135
HP:0011138	Abnormality of skin adnexa morphology	5879	RAC1	OMIM:617751
HP:0011138	Abnormality of skin adnexa morphology	5879	RAC1	ORPHA:500159
HP:0011138	Abnormality of skin adnexa morphology	10210	TOPORS	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	5147	PDE6D	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	374654	KIF7	ORPHA:2754
HP:0011138	Abnormality of skin adnexa morphology	617	BCS1L	OMIM:262000
HP:0011138	Abnormality of skin adnexa morphology	4893	NRAS	OMIM:613224
HP:0011138	Abnormality of skin adnexa morphology	1308	COL17A1	OMIM:619787
HP:0011138	Abnormality of skin adnexa morphology	1308	COL17A1	ORPHA:251393
HP:0011138	Abnormality of skin adnexa morphology	1308	COL17A1	ORPHA:79402
HP:0011138	Abnormality of skin adnexa morphology	5339	PLEC	OMIM:226670
HP:0011138	Abnormality of skin adnexa morphology	5339	PLEC	ORPHA:158684
HP:0011138	Abnormality of skin adnexa morphology	3691	ITGB4	ORPHA:158684
HP:0011138	Abnormality of skin adnexa morphology	3691	ITGB4	ORPHA:251393
HP:0011138	Abnormality of skin adnexa morphology	3691	ITGB4	ORPHA:79402
HP:0011138	Abnormality of skin adnexa morphology	10682	EBP	ORPHA:35173
HP:0011138	Abnormality of skin adnexa morphology	387	RHOA	OMIM:618727
HP:0011138	Abnormality of skin adnexa morphology	9076	CLDN1	ORPHA:59303
HP:0011138	Abnormality of skin adnexa morphology	2623	GATA1	ORPHA:79277
HP:0011138	Abnormality of skin adnexa morphology	7389	UROD	ORPHA:95159
HP:0011138	Abnormality of skin adnexa morphology	3909	LAMA3	ORPHA:79402
HP:0011138	Abnormality of skin adnexa morphology	3918	LAMC2	ORPHA:79402
HP:0011138	Abnormality of skin adnexa morphology	3914	LAMB3	ORPHA:79402
HP:0011138	Abnormality of skin adnexa morphology	4758	NEU1	ORPHA:93399
HP:0011138	Abnormality of skin adnexa morphology	4758	NEU1	ORPHA:93400
HP:0011138	Abnormality of skin adnexa morphology	10297	APC2	ORPHA:821
HP:0011138	Abnormality of skin adnexa morphology	11005	SPINK5	OMIM:256500
HP:0011138	Abnormality of skin adnexa morphology	80232	WDR26	OMIM:617616
HP:0011138	Abnormality of skin adnexa morphology	80232	WDR26	ORPHA:513456
HP:0011138	Abnormality of skin adnexa morphology	5361	PLXNA1	OMIM:619955
HP:0011138	Abnormality of skin adnexa morphology	57511	COG6	ORPHA:363523
HP:0011138	Abnormality of skin adnexa morphology	51111	KMT5B	OMIM:617788
HP:0011138	Abnormality of skin adnexa morphology	3190	HNRNPK	OMIM:616580
HP:0011138	Abnormality of skin adnexa morphology	92255	LMBRD2	OMIM:619694
HP:0011138	Abnormality of skin adnexa morphology	10524	KAT5	OMIM:619103
HP:0011138	Abnormality of skin adnexa morphology	5813	PURA	ORPHA:314655
HP:0011138	Abnormality of skin adnexa morphology	1497	CTNS	OMIM:219800
HP:0011138	Abnormality of skin adnexa morphology	1638	DCT	OMIM:619165
HP:0011138	Abnormality of skin adnexa morphology	6492	SIM1	ORPHA:398079
HP:0011138	Abnormality of skin adnexa morphology	5053	PAH	ORPHA:79254
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:98754
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:177904
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:177901
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:177910
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:177907
HP:0011138	Abnormality of skin adnexa morphology	6638	SNRPN	ORPHA:411515
HP:0011138	Abnormality of skin adnexa morphology	4692	NDN	ORPHA:98754
HP:0011138	Abnormality of skin adnexa morphology	4692	NDN	ORPHA:177904
HP:0011138	Abnormality of skin adnexa morphology	4692	NDN	ORPHA:177901
HP:0011138	Abnormality of skin adnexa morphology	4692	NDN	ORPHA:177910
HP:0011138	Abnormality of skin adnexa morphology	7337	UBE3A	ORPHA:98794
HP:0011138	Abnormality of skin adnexa morphology	7337	UBE3A	ORPHA:98795
HP:0011138	Abnormality of skin adnexa morphology	7337	UBE3A	ORPHA:411511
HP:0011138	Abnormality of skin adnexa morphology	7337	UBE3A	ORPHA:411515
HP:0011138	Abnormality of skin adnexa morphology	28956	LAMTOR2	ORPHA:90023
HP:0011138	Abnormality of skin adnexa morphology	57194	ATP10A	ORPHA:411515
HP:0011138	Abnormality of skin adnexa morphology	126695	KDF1	OMIM:617337
HP:0011138	Abnormality of skin adnexa morphology	6926	TBX3	OMIM:181450
HP:0011138	Abnormality of skin adnexa morphology	7386	UQCRFS1	OMIM:618775
HP:0011138	Abnormality of skin adnexa morphology	10262	SF3B4	ORPHA:245
HP:0011138	Abnormality of skin adnexa morphology	10262	SF3B4	OMIM:154400
HP:0011138	Abnormality of skin adnexa morphology	6651	SON	ORPHA:500150
HP:0011138	Abnormality of skin adnexa morphology	2132	EXT2	OMIM:616682
HP:0011138	Abnormality of skin adnexa morphology	8550	MAPKAPK5	OMIM:619869
HP:0011138	Abnormality of skin adnexa morphology	55623	THUMPD1	OMIM:619989
HP:0011138	Abnormality of skin adnexa morphology	23126	POGZ	OMIM:616364
HP:0011138	Abnormality of skin adnexa morphology	5832	ALDH18A1	OMIM:219150
HP:0011138	Abnormality of skin adnexa morphology	84295	PHF6	ORPHA:127
HP:0011138	Abnormality of skin adnexa morphology	5631	PRPS1	OMIM:300661
HP:0011138	Abnormality of skin adnexa morphology	23030	KDM4B	OMIM:619320
HP:0011138	Abnormality of skin adnexa morphology	54496	PRMT7	OMIM:617157
HP:0011138	Abnormality of skin adnexa morphology	63035	BCORL1	OMIM:301029
HP:0011138	Abnormality of skin adnexa morphology	10265	IRX5	OMIM:611174
HP:0011138	Abnormality of skin adnexa morphology	3977	LIFR	OMIM:601559
HP:0011138	Abnormality of skin adnexa morphology	4700	NDUFA6	OMIM:618253
HP:0011138	Abnormality of skin adnexa morphology	79827	CLMP	ORPHA:2301
HP:0011138	Abnormality of skin adnexa morphology	490	ATP2B1	OMIM:619910
HP:0011138	Abnormality of skin adnexa morphology	4329	ALDH6A1	OMIM:614105
HP:0011138	Abnormality of skin adnexa morphology	9702	CEP57	OMIM:614114
HP:0011138	Abnormality of skin adnexa morphology	7480	WNT10B	OMIM:617073
HP:0011138	Abnormality of skin adnexa morphology	5557	PRIM1	OMIM:620005
HP:0011138	Abnormality of skin adnexa morphology	1788	DNMT3A	OMIM:618724
HP:0011138	Abnormality of skin adnexa morphology	9757	KMT2B	OMIM:619934
HP:0011138	Abnormality of skin adnexa morphology	84081	NSRP1	OMIM:620001
HP:0011138	Abnormality of skin adnexa morphology	90416	CCDC32	OMIM:619123
HP:0011138	Abnormality of skin adnexa morphology	7372	UMPS	ORPHA:30
HP:0011138	Abnormality of skin adnexa morphology	19	ABCA1	OMIM:205400
HP:0011138	Abnormality of skin adnexa morphology	19	ABCA1	ORPHA:31150
HP:0011138	Abnormality of skin adnexa morphology	3655	ITGA6	ORPHA:79403
HP:0011138	Abnormality of skin adnexa morphology	4598	MVK	OMIM:175900
HP:0011138	Abnormality of skin adnexa morphology	10084	PQBP1	ORPHA:93947
HP:0011138	Abnormality of skin adnexa morphology	977	CD151	OMIM:609057
HP:0011138	Abnormality of skin adnexa morphology	56992	KIF15	ORPHA:261323
HP:0011138	Abnormality of skin adnexa morphology	4141	MARS1	OMIM:619692
HP:0011138	Abnormality of skin adnexa morphology	130340	AP1S3	OMIM:616106
HP:0011138	Abnormality of skin adnexa morphology	10616	RBCK1	OMIM:615895
HP:0011138	Abnormality of skin adnexa morphology	26525	IL36RN	OMIM:614204
HP:0011138	Abnormality of skin adnexa morphology	284654	RSPO1	OMIM:610644
HP:0011138	Abnormality of skin adnexa morphology	1475	CSTA	OMIM:607936
HP:0011138	Abnormality of skin adnexa morphology	51371	POMP	OMIM:601952
HP:0011138	Abnormality of skin adnexa morphology	134218	DNAJC21	OMIM:617052
HP:0011138	Abnormality of skin adnexa morphology	54914	FOCAD	OMIM:619991
HP:0011138	Abnormality of skin adnexa morphology	7373	COL14A1	ORPHA:79501
HP:0011138	Abnormality of skin adnexa morphology	2934	GSN	ORPHA:85448
HP:0011138	Abnormality of skin adnexa morphology	51062	ATL1	OMIM:613708
HP:0011138	Abnormality of skin adnexa morphology	79977	GRHL2	OMIM:616029
HP:0011138	Abnormality of skin adnexa morphology	22861	NLRP1	OMIM:615225
HP:0011138	Abnormality of skin adnexa morphology	5824	PEX19	OMIM:614886
HP:0011138	Abnormality of skin adnexa morphology	158326	FREM1	OMIM:248450
HP:0011138	Abnormality of skin adnexa morphology	84172	POLR1B	OMIM:618939
HP:0011138	Abnormality of skin adnexa morphology	6949	TCOF1	OMIM:154500
HP:0011138	Abnormality of skin adnexa morphology	80324	PUS1	OMIM:600462
HP:0011138	Abnormality of skin adnexa morphology	80324	PUS1	ORPHA:2598
HP:0011138	Abnormality of skin adnexa morphology	1500	CTNND1	OMIM:617681
HP:0011138	Abnormality of skin adnexa morphology	1500	CTNND1	ORPHA:1997
HP:0011138	Abnormality of skin adnexa morphology	2303	FOXC2	OMIM:153400
HP:0011138	Abnormality of skin adnexa morphology	2303	FOXC2	ORPHA:33001
HP:0011138	Abnormality of skin adnexa morphology	51067	YARS2	ORPHA:2598
HP:0011138	Abnormality of skin adnexa morphology	435	ASL	ORPHA:23
HP:0011138	Abnormality of skin adnexa morphology	435	ASL	OMIM:207900
HP:0011138	Abnormality of skin adnexa morphology	1185	CLCN6	OMIM:619173
HP:0011138	Abnormality of skin adnexa morphology	2222	FDFT1	OMIM:618156
HP:0011138	Abnormality of skin adnexa morphology	11107	PRDM5	ORPHA:90354
HP:0011138	Abnormality of skin adnexa morphology	84627	ZNF469	ORPHA:90354
HP:0011138	Abnormality of skin adnexa morphology	5626	PROP1	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	5626	PROP1	ORPHA:90695
HP:0011138	Abnormality of skin adnexa morphology	2736	GLI2	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	89884	LHX4	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	3170	FOXA2	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	5449	POU1F1	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	8820	HESX1	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	5015	OTX2	ORPHA:95494
HP:0011138	Abnormality of skin adnexa morphology	6658	SOX3	ORPHA:90695
HP:0011138	Abnormality of skin adnexa morphology	9653	HS2ST1	OMIM:619194
HP:0011138	Abnormality of skin adnexa morphology	1802	DPH2	OMIM:620062
HP:0011138	Abnormality of skin adnexa morphology	104	ADARB1	OMIM:618862
HP:0011138	Abnormality of skin adnexa morphology	8812	CCNK	OMIM:618147
HP:0011138	Abnormality of skin adnexa morphology	29926	GMPPA	OMIM:615510
HP:0011138	Abnormality of skin adnexa morphology	7360	UGP2	OMIM:618744
HP:0011138	Abnormality of skin adnexa morphology	3008	H1-4	OMIM:617537
HP:0011138	Abnormality of skin adnexa morphology	3703	STT3A	OMIM:619714
HP:0011138	Abnormality of skin adnexa morphology	79718	TBL1XR1	OMIM:602342
HP:0011138	Abnormality of skin adnexa morphology	79718	TBL1XR1	ORPHA:487825
HP:0011138	Abnormality of skin adnexa morphology	79228	THOC6	ORPHA:363444
HP:0011138	Abnormality of skin adnexa morphology	79228	THOC6	OMIM:613680
HP:0011138	Abnormality of skin adnexa morphology	10026	PIGK	OMIM:618879
HP:0011138	Abnormality of skin adnexa morphology	10525	HYOU1	OMIM:233600
HP:0011138	Abnormality of skin adnexa morphology	999	CDH1	OMIM:119580
HP:0011138	Abnormality of skin adnexa morphology	84679	SLC9A7	OMIM:301024
HP:0011138	Abnormality of skin adnexa morphology	55906	ZC4H2	OMIM:314580
HP:0011138	Abnormality of skin adnexa morphology	1748	DLX4	OMIM:616788
HP:0011138	Abnormality of skin adnexa morphology	10815	CPLX1	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	54872	PIGG	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	7469	NELFA	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	1487	CTBP1	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	3954	LETM1	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	7468	NSD2	ORPHA:280
HP:0011138	Abnormality of skin adnexa morphology	4212	MEIS2	OMIM:600987
HP:0011138	Abnormality of skin adnexa morphology	4858	NOVA2	OMIM:618859
HP:0011138	Abnormality of skin adnexa morphology	25871	NEPRO	OMIM:618853
HP:0011138	Abnormality of skin adnexa morphology	2245	FGD1	ORPHA:915
HP:0011138	Abnormality of skin adnexa morphology	26057	ANKRD17	OMIM:619504
HP:0011138	Abnormality of skin adnexa morphology	6654	SOS1	OMIM:610733
HP:0011138	Abnormality of skin adnexa morphology	3720	JARID2	OMIM:620098
HP:0011138	Abnormality of skin adnexa morphology	129285	PPP1R21	OMIM:619383
HP:0011138	Abnormality of skin adnexa morphology	1371	CPOX	ORPHA:79273
HP:0011138	Abnormality of skin adnexa morphology	191	AHCY	ORPHA:88618
HP:0011138	Abnormality of skin adnexa morphology	26227	PHGDH	ORPHA:79351
HP:0011138	Abnormality of skin adnexa morphology	10312	TCIRG1	ORPHA:667
HP:0011138	Abnormality of skin adnexa morphology	1186	CLCN7	ORPHA:667
HP:0011138	Abnormality of skin adnexa morphology	29887	SNX10	ORPHA:667
HP:0011138	Abnormality of skin adnexa morphology	8600	TNFSF11	ORPHA:667
HP:0011138	Abnormality of skin adnexa morphology	23426	GRIP1	ORPHA:2052
HP:0011138	Abnormality of skin adnexa morphology	10225	CD96	ORPHA:1308
HP:0011138	Abnormality of skin adnexa morphology	6812	STXBP1	ORPHA:495818
HP:0011138	Abnormality of skin adnexa morphology	8450	CUL4B	ORPHA:85293
HP:0011138	Abnormality of skin adnexa morphology	8241	RBM10	ORPHA:2886
HP:0011138	Abnormality of skin adnexa morphology	5518	PPP2R1A	ORPHA:457284
HP:0011138	Abnormality of skin adnexa morphology	5518	PPP2R1A	OMIM:616362
HP:0011138	Abnormality of skin adnexa morphology	10617	STAMBP	OMIM:614261
HP:0011138	Abnormality of skin adnexa morphology	25	ABL1	OMIM:617602
HP:0011138	Abnormality of skin adnexa morphology	54840	APTX	ORPHA:1168
HP:0011138	Abnormality of skin adnexa morphology	80326	WNT10A	OMIM:150400
HP:0011138	Abnormality of skin adnexa morphology	84231	TRAF7	OMIM:618164
HP:0011138	Abnormality of skin adnexa morphology	5898	RALA	OMIM:619311
HP:0011138	Abnormality of skin adnexa morphology	253738	EBF3	OMIM:617330
HP:0011138	Abnormality of skin adnexa morphology	93986	FOXP2	ORPHA:209908
HP:0011138	Abnormality of skin adnexa morphology	6857	SYT1	ORPHA:522077
HP:0011138	Abnormality of skin adnexa morphology	26173	INTS1	OMIM:618571
HP:0011138	Abnormality of skin adnexa morphology	83696	TRAPPC9	ORPHA:352530
HP:0011138	Abnormality of skin adnexa morphology	23097	CDK19	OMIM:618916
HP:0011138	Abnormality of skin adnexa morphology	8925	HERC1	ORPHA:457359
HP:0011138	Abnormality of skin adnexa morphology	55621	TRMT1	OMIM:618302
HP:0011138	Abnormality of skin adnexa morphology	6711	SPTBN1	OMIM:619475
HP:0011138	Abnormality of skin adnexa morphology	2186	BPTF	OMIM:617755
HP:0011138	Abnormality of skin adnexa morphology	29920	PYCR2	ORPHA:481152
HP:0011138	Abnormality of skin adnexa morphology	4001	LMNB1	OMIM:619179
HP:0011138	Abnormality of skin adnexa morphology	4221	MEN1	ORPHA:2965
HP:0011138	Abnormality of skin adnexa morphology	2304	FOXE1	ORPHA:1226
HP:0011138	Abnormality of skin adnexa morphology	57167	SALL4	ORPHA:233
HP:0011138	Abnormality of skin adnexa morphology	9935	MAFB	ORPHA:233
HP:0011138	Abnormality of skin adnexa morphology	1123	CHN1	ORPHA:233
HP:0011138	Abnormality of skin adnexa morphology	6418	SET	OMIM:618106
HP:0011138	Abnormality of skin adnexa morphology	5528	PPP2R5D	ORPHA:457279
HP:0011138	Abnormality of skin adnexa morphology	3209	HOXA13	ORPHA:2438
HP:0011138	Abnormality of skin adnexa morphology	6792	CDKL5	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	3736	KCNA1	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	9091	PIGQ	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	2775	GNAO1	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	2902	GRIN1	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	79751	SLC25A22	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	150094	SIK1	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	8573	CASK	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	2917	GRM7	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	11284	PNKP	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	6326	SCN2A	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	51227	PIGP	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	6324	SCN1B	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	4761	NEUROD2	ORPHA:1934
HP:0011138	Abnormality of skin adnexa morphology	51360	MBTPS2	ORPHA:2273
HP:0011138	Abnormality of skin adnexa morphology	4487	MSX1	ORPHA:2228
HP:0011138	Abnormality of skin adnexa morphology	10804	GJB6	ORPHA:477
HP:0011138	Abnormality of skin adnexa morphology	2706	GJB2	ORPHA:477
HP:0011138	Abnormality of skin adnexa morphology	10483	SEC23B	OMIM:616858
HP:0011138	Abnormality of skin adnexa morphology	100144748	KLLN	OMIM:615107
HP:0011138	Abnormality of skin adnexa morphology	5728	PTEN	ORPHA:65285
HP:0011138	Abnormality of skin adnexa morphology	23511	NUP188	OMIM:618804
HP:0011138	Abnormality of skin adnexa morphology	7994	KAT6A	OMIM:616268
HP:0011138	Abnormality of skin adnexa morphology	6477	SIAH1	OMIM:619314
HP:0011138	Abnormality of skin adnexa morphology	120766137	HRURF	OMIM:146550
HP:0011138	Abnormality of skin adnexa morphology	9652	SKIC3	ORPHA:84064
HP:0011138	Abnormality of skin adnexa morphology	6499	SKIC2	ORPHA:84064
HP:0011138	Abnormality of skin adnexa morphology	6499	SKIC2	OMIM:614602
HP:0011138	Abnormality of skin adnexa morphology	51702	PADI3	OMIM:191480
HP:0011138	Abnormality of skin adnexa morphology	8626	TP63	OMIM:129400
HP:0011138	Abnormality of skin adnexa morphology	7062	TCHH	OMIM:617252
HP:0011138	Abnormality of skin adnexa morphology	7053	TGM3	OMIM:617251
HP:0011138	Abnormality of skin adnexa morphology	4292	MLH1	OMIM:158320
HP:0011138	Abnormality of skin adnexa morphology	4436	MSH2	OMIM:158320
HP:0011138	Abnormality of skin adnexa morphology	9817	KEAP1	ORPHA:276399
HP:0011138	Abnormality of skin adnexa morphology	23405	DICER1	ORPHA:276399
HP:0011138	Abnormality of skin adnexa morphology	3861	KRT14	ORPHA:69087
HP:0011138	Abnormality of skin adnexa morphology	57465	TBC1D24	ORPHA:79500
HP:0011138	Abnormality of skin adnexa morphology	201163	FLCN	OMIM:135150
HP:0011138	Abnormality of skin adnexa morphology	1001	CDH3	OMIM:601553
HP:0011138	Abnormality of skin adnexa morphology	284	ANGPT1	OMIM:619361
HP:0011138	Abnormality of skin adnexa morphology	340061	STING1	OMIM:615934
HP:0011138	Abnormality of skin adnexa morphology	26509	MYOF	OMIM:619366
HP:0011138	Abnormality of skin adnexa morphology	7737	RNF113A	OMIM:300953
HP:0011138	Abnormality of skin adnexa morphology	5189	PEX1	OMIM:234580
HP:0011138	Abnormality of skin adnexa morphology	5190	PEX6	OMIM:616617
HP:0011138	Abnormality of skin adnexa morphology	773	CACNA1A	ORPHA:2131
HP:0011138	Abnormality of skin adnexa morphology	6507	SLC1A3	ORPHA:2131
HP:0011138	Abnormality of skin adnexa morphology	477	ATP1A2	ORPHA:2131
HP:0011138	Abnormality of skin adnexa morphology	478	ATP1A3	ORPHA:2131
HP:0011138	Abnormality of skin adnexa morphology	8318	CDC45	OMIM:617063
HP:0011138	Abnormality of skin adnexa morphology	10157	AASS	ORPHA:2203
HP:0011138	Abnormality of skin adnexa morphology	116931	MED12L	OMIM:618872
HP:0011138	Abnormality of skin adnexa morphology	57520	HECW2	OMIM:617268
HP:0011138	Abnormality of skin adnexa morphology	55210	ATAD3A	OMIM:618810
HP:0011138	Abnormality of skin adnexa morphology	6611	SMS	ORPHA:3063
HP:0011138	Abnormality of skin adnexa morphology	6611	SMS	OMIM:309583
HP:0011138	Abnormality of skin adnexa morphology	51611	DPH5	OMIM:620070
HP:0011138	Abnormality of skin adnexa morphology	4781	NFIB	OMIM:618286
HP:0011138	Abnormality of skin adnexa morphology	4763	NF1	ORPHA:139474
HP:0011138	Abnormality of skin adnexa morphology	51574	LARP7	ORPHA:319671
HP:0011138	Abnormality of skin adnexa morphology	6868	ADAM17	ORPHA:294023
HP:0011138	Abnormality of skin adnexa morphology	2099	ESR1	ORPHA:785
HP:0011138	Abnormality of skin adnexa morphology	1041	CDSN	ORPHA:90368
HP:0011138	Abnormality of skin adnexa morphology	121391	KRT74	ORPHA:90368
HP:0011138	Abnormality of skin adnexa morphology	6794	STK11	ORPHA:2869
HP:0011138	Abnormality of skin adnexa morphology	2324	FLT4	ORPHA:79452
HP:0011138	Abnormality of skin adnexa morphology	57165	GJC2	ORPHA:79452
HP:0011138	Abnormality of skin adnexa morphology	7424	VEGFC	OMIM:615907
HP:0011138	Abnormality of skin adnexa morphology	50964	SOST	ORPHA:3152
HP:0011138	Abnormality of skin adnexa morphology	3590	IL11RA	OMIM:614188
HP:0011138	Abnormality of skin adnexa morphology	4791	NFKB2	ORPHA:293978
HP:0011138	Abnormality of skin adnexa morphology	3458	IFNG	ORPHA:805
HP:0011138	Abnormality of skin adnexa morphology	7248	TSC1	ORPHA:805
HP:0011138	Abnormality of skin adnexa morphology	7248	TSC1	ORPHA:538
HP:0011138	Abnormality of skin adnexa morphology	7249	TSC2	ORPHA:805
HP:0011138	Abnormality of skin adnexa morphology	7249	TSC2	ORPHA:538
HP:0011138	Abnormality of skin adnexa morphology	5396	PRRX1	ORPHA:990
HP:0011138	Abnormality of skin adnexa morphology	3039	HBA1	ORPHA:98791
HP:0011138	Abnormality of skin adnexa morphology	3040	HBA2	ORPHA:98791
HP:0011138	Abnormality of skin adnexa morphology	25839	COG4	ORPHA:263501
HP:0011138	Abnormality of skin adnexa morphology	25839	COG4	OMIM:613489
HP:0011138	Abnormality of skin adnexa morphology	55154	MSTO1	OMIM:617675
HP:0011138	Abnormality of skin adnexa morphology	55154	MSTO1	ORPHA:502423
HP:0011138	Abnormality of skin adnexa morphology	4750	NEK1	ORPHA:2751
HP:0011138	Abnormality of skin adnexa morphology	3229	HOXC13	OMIM:614931
HP:0011138	Abnormality of skin adnexa morphology	6720	SREBF1	OMIM:619016
HP:0011133	Increased sensitivity to ionizing radiation	8314	BAP1	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	4771	NF2	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	6598	SMARCB1	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	5155	PDGFB	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	84231	TRAF7	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	6608	SMO	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	207	AKT1	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	5290	PIK3CA	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	7015	TERT	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	51684	SUFU	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	6605	SMARCE1	ORPHA:2495
HP:0011133	Increased sensitivity to ionizing radiation	165918	RNF168	OMIM:611943
HP:0011133	Increased sensitivity to ionizing radiation	56160	NSMCE3	OMIM:617241
HP:0011133	Increased sensitivity to ionizing radiation	4361	MRE11	OMIM:604391
HP:0011132	Chronic furunculosis	90268	OTULIN	OMIM:619986
HP:0011132	Chronic furunculosis	23765	IL17RA	OMIM:613953
HP:0011132	Chronic furunculosis	55851	PSENEN	OMIM:613736
HP:0011132	Chronic furunculosis	5663	PSEN1	OMIM:613737
HP:0011132	Chronic furunculosis	1075	CTSC	ORPHA:678
HP:0011131	Perianal dermatitis	6868	ADAM17	ORPHA:294023
HP:0011131	Perianal dermatitis	1956	EGFR	ORPHA:294023
HP:0011131	Perianal dermatitis	50619	DEF6	OMIM:619573
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	25974	MMACHC	ORPHA:79282
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	55788	LMBRD1	ORPHA:79284
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	84693	MCEE	OMIM:251120
HP:0031545	Abnormally low T cell receptor excision circle level	3561	IL2RG	ORPHA:276
HP:0031545	Abnormally low T cell receptor excision circle level	64919	BCL11B	OMIM:617237
HP:0031545	Abnormally low T cell receptor excision circle level	64919	BCL11B	OMIM:618092
HP:0031545	Abnormally low T cell receptor excision circle level	5880	RAC2	OMIM:618986
HP:0031545	Abnormally low T cell receptor excision circle level	5880	RAC2	OMIM:618987
HP:0031545	Abnormally low T cell receptor excision circle level	5880	RAC2	OMIM:608203
HP:0031545	Abnormally low T cell receptor excision circle level	6117	RPA1	OMIM:619767
HP:0031545	Abnormally low T cell receptor excision circle level	79991	STN1	OMIM:617341
HP:0031545	Abnormally low T cell receptor excision circle level	8456	FOXN1	OMIM:618806
HP:0031545	Abnormally low T cell receptor excision circle level	64421	DCLRE1C	OMIM:602450
HP:0031545	Abnormally low T cell receptor excision circle level	3937	LCP2	OMIM:619374
HP:0031546	Cardiac conduction abnormality	2879	GPX4	ORPHA:93317
HP:0031546	Cardiac conduction abnormality	189	AGXT	OMIM:259900
HP:0031546	Cardiac conduction abnormality	788	SLC25A20	OMIM:212138
HP:0031546	Cardiac conduction abnormality	4313	MMP2	ORPHA:371428
HP:0031546	Cardiac conduction abnormality	4323	MMP14	ORPHA:371428
HP:0031546	Cardiac conduction abnormality	6330	SCN4B	OMIM:611819
HP:0031546	Cardiac conduction abnormality	37	ACADVL	ORPHA:26793
HP:0031546	Cardiac conduction abnormality	3762	KCNJ5	OMIM:613485
HP:0031546	Cardiac conduction abnormality	88	ACTN2	OMIM:612158
HP:0031546	Cardiac conduction abnormality	3759	KCNJ2	ORPHA:51083
HP:0031546	Cardiac conduction abnormality	3784	KCNQ1	ORPHA:51083
HP:0031546	Cardiac conduction abnormality	3757	KCNH2	ORPHA:51083
HP:0031546	Cardiac conduction abnormality	6508	SLC4A3	ORPHA:51083
HP:0031546	Cardiac conduction abnormality	7273	TTN	OMIM:604145
HP:0031546	Cardiac conduction abnormality	7273	TTN	OMIM:611705
HP:0031546	Cardiac conduction abnormality	79188	TMEM43	ORPHA:98853
HP:0031546	Cardiac conduction abnormality	23345	SYNE1	ORPHA:98853
HP:0031546	Cardiac conduction abnormality	23224	SYNE2	ORPHA:98853
HP:0031546	Cardiac conduction abnormality	2902	GRIN1	OMIM:619814
HP:0031546	Cardiac conduction abnormality	5593	PRKG2	OMIM:619636
HP:0031546	Cardiac conduction abnormality	4509	MT-ATP8	ORPHA:480
HP:0031546	Cardiac conduction abnormality	1674	DES	OMIM:601419
HP:0031546	Cardiac conduction abnormality	50619	DEF6	OMIM:619573
HP:0031546	Cardiac conduction abnormality	50484	RRM2B	ORPHA:329336
HP:0031546	Cardiac conduction abnormality	6389	SDHA	ORPHA:3208
HP:0031546	Cardiac conduction abnormality	6390	SDHB	ORPHA:3208
HP:0031546	Cardiac conduction abnormality	6392	SDHD	ORPHA:3208
HP:0031546	Cardiac conduction abnormality	644096	SDHAF1	ORPHA:3208
HP:0031546	Cardiac conduction abnormality	7276	TTR	ORPHA:85451
HP:0031546	Cardiac conduction abnormality	10021	HCN4	OMIM:163800
HP:0031546	Cardiac conduction abnormality	10021	HCN4	ORPHA:130
HP:0031546	Cardiac conduction abnormality	23630	KCNE5	ORPHA:130
HP:0031546	Cardiac conduction abnormality	10371	SEMA3A	ORPHA:130
HP:0031546	Cardiac conduction abnormality	54795	TRPM4	ORPHA:130
HP:0031546	Cardiac conduction abnormality	3764	KCNJ8	ORPHA:130
HP:0031546	Cardiac conduction abnormality	3752	KCND3	ORPHA:130
HP:0031546	Cardiac conduction abnormality	5318	PKP2	ORPHA:130
HP:0031546	Cardiac conduction abnormality	7871	SLMAP	ORPHA:130
HP:0031546	Cardiac conduction abnormality	10060	ABCC9	ORPHA:130
HP:0031546	Cardiac conduction abnormality	29098	RANGRF	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6336	SCN10A	ORPHA:130
HP:0031546	Cardiac conduction abnormality	10008	KCNE3	ORPHA:130
HP:0031546	Cardiac conduction abnormality	55800	SCN3B	ORPHA:130
HP:0031546	Cardiac conduction abnormality	10142	AKAP9	ORPHA:130
HP:0031546	Cardiac conduction abnormality	783	CACNB2	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6337	SCNN1A	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6327	SCN2B	ORPHA:130
HP:0031546	Cardiac conduction abnormality	781	CACNA2D1	ORPHA:130
HP:0031546	Cardiac conduction abnormality	775	CACNA1C	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6324	SCN1B	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6331	SCN5A	ORPHA:130
HP:0031546	Cardiac conduction abnormality	6331	SCN5A	ORPHA:1344
HP:0031546	Cardiac conduction abnormality	6331	SCN5A	OMIM:608567
HP:0031546	Cardiac conduction abnormality	23171	GPD1L	ORPHA:130
HP:0031546	Cardiac conduction abnormality	10681	GNB5	OMIM:617182
HP:0031546	Cardiac conduction abnormality	10681	GNB5	OMIM:617173
HP:0031546	Cardiac conduction abnormality	10681	GNB5	ORPHA:542306
HP:0031546	Cardiac conduction abnormality	4624	MYH6	OMIM:614090
HP:0031546	Cardiac conduction abnormality	151648	SGO1	OMIM:616201
HP:0031546	Cardiac conduction abnormality	4878	NPPA	ORPHA:1344
HP:0031546	Cardiac conduction abnormality	6262	RYR2	OMIM:604772
HP:0031546	Cardiac conduction abnormality	845	CASQ2	OMIM:604772
HP:0031546	Cardiac conduction abnormality	10345	TRDN	OMIM:604772
HP:0031546	Cardiac conduction abnormality	4000	LMNA	OMIM:181350
HP:0031546	Cardiac conduction abnormality	4000	LMNA	OMIM:115200
HP:0031546	Cardiac conduction abnormality	7092	TLL1	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	7092	TLL1	ORPHA:99106
HP:0031546	Cardiac conduction abnormality	57057	TBX20	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	1482	NKX2-5	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	70	ACTC1	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	10370	CITED2	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	10370	CITED2	ORPHA:99105
HP:0031546	Cardiac conduction abnormality	2626	GATA4	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	2627	GATA6	ORPHA:99103
HP:0031546	Cardiac conduction abnormality	2702	GJA5	OMIM:108770
HP:0031546	Cardiac conduction abnormality	1837	DTNA	OMIM:604169
HP:0031546	Cardiac conduction abnormality	4635	MYL4	OMIM:617280
HP:0031546	Cardiac conduction abnormality	1760	DMPK	ORPHA:589821
HP:0031546	Cardiac conduction abnormality	1760	DMPK	OMIM:160900
HP:0031546	Cardiac conduction abnormality	6910	TBX5	ORPHA:392
HP:0031546	Cardiac conduction abnormality	4607	MYBPC3	OMIM:115197
HP:0031546	Cardiac conduction abnormality	5663	PSEN1	OMIM:613694
HP:0031546	Cardiac conduction abnormality	3777	KCNK3	OMIM:615344
HP:0031546	Cardiac conduction abnormality	5664	PSEN2	OMIM:613697
HP:0031546	Cardiac conduction abnormality	84665	MYPN	OMIM:617336
HP:0031546	Cardiac conduction abnormality	29119	CTNNA3	OMIM:615616
HP:0031546	Cardiac conduction abnormality	2010	EMD	OMIM:310300
HP:0031546	Cardiac conduction abnormality	83475	DOHH	OMIM:620066
HP:0031546	Cardiac conduction abnormality	11149	BVES	OMIM:616812
HP:0031546	Cardiac conduction abnormality	7716	VEZF1	OMIM:620247
HP:0031546	Cardiac conduction abnormality	23395	LARS2	OMIM:617021
HP:0031546	Cardiac conduction abnormality	3920	LAMP2	OMIM:300257
HP:0031546	Cardiac conduction abnormality	776	CACNA1D	ORPHA:369929
HP:0031546	Cardiac conduction abnormality	776	CACNA1D	OMIM:615474
HP:0031546	Cardiac conduction abnormality	8318	CDC45	OMIM:617063
HP:0031546	Cardiac conduction abnormality	100134444	KCNJ18	ORPHA:79102
HP:0031546	Cardiac conduction abnormality	2556	GABRA3	ORPHA:79102
HP:0031546	Cardiac conduction abnormality	779	CACNA1S	ORPHA:79102
HP:0031546	Cardiac conduction abnormality	808	CALM3	OMIM:618782
HP:0031546	Cardiac conduction abnormality	2239	GPC4	ORPHA:373
HP:0031546	Cardiac conduction abnormality	2719	GPC3	ORPHA:373
HP:0031546	Cardiac conduction abnormality	5781	PTPN11	OMIM:151100
HP:0031546	Cardiac conduction abnormality	5781	PTPN11	ORPHA:500
HP:0031546	Cardiac conduction abnormality	2717	GLA	ORPHA:324
HP:0031546	Cardiac conduction abnormality	673	BRAF	ORPHA:500
HP:0031546	Cardiac conduction abnormality	5894	RAF1	ORPHA:500
HP:0031546	Cardiac conduction abnormality	51086	TNNI3K	OMIM:616117
HP:0031546	Cardiac conduction abnormality	7134	TNNC1	OMIM:613243
HP:0031546	Cardiac conduction abnormality	4625	MYH7	ORPHA:437572
HP:0031546	Cardiac conduction abnormality	2318	FLNC	OMIM:617047
HP:0031546	Cardiac conduction abnormality	4519	MT-CYB	ORPHA:137675
HP:0031546	Cardiac conduction abnormality	7139	TNNT2	OMIM:115195
HP:0031546	Cardiac conduction abnormality	5339	PLEC	ORPHA:254361
HP:0031546	Cardiac conduction abnormality	8291	DYSF	ORPHA:268
HP:0031546	Cardiac conduction abnormality	128869	PIGU	OMIM:618590
HP:0031546	Cardiac conduction abnormality	7555	CNBP	OMIM:602668
HP:0031546	Cardiac conduction abnormality	3728	JUP	OMIM:601214
HP:0031546	Cardiac conduction abnormality	221496	LEMD2	OMIM:619322
HP:0031546	Cardiac conduction abnormality	1829	DSG2	OMIM:610193
HP:0031546	Cardiac conduction abnormality	5500	PPP1CB	OMIM:617506
HP:0031546	Cardiac conduction abnormality	2992	GYG1	OMIM:613507
HP:0031546	Cardiac conduction abnormality	2992	GYG1	ORPHA:263297
HP:0031546	Cardiac conduction abnormality	2273	FHL1	OMIM:300695
HP:0031546	Cardiac conduction abnormality	56915	EXOSC5	OMIM:619576
HP:0031546	Cardiac conduction abnormality	442721	LMOD2	OMIM:619897
HP:0031546	Cardiac conduction abnormality	29954	POMT2	OMIM:613158
HP:0031546	Cardiac conduction abnormality	29954	POMT2	ORPHA:206559
HP:0031546	Cardiac conduction abnormality	8815	BANF1	OMIM:614008
HP:0031546	Cardiac conduction abnormality	2771	GNAI2	OMIM:192605
HP:0031546	Cardiac conduction abnormality	246243	RNASEH1	OMIM:616479
HP:0031546	Cardiac conduction abnormality	523	ATP6V1A	OMIM:617403
HP:0031546	Cardiac conduction abnormality	529	ATP6V1E1	OMIM:617402
HP:0031546	Cardiac conduction abnormality	4633	MYL2	OMIM:608758
HP:0031546	Cardiac conduction abnormality	51422	PRKAG2	OMIM:600858
HP:0031546	Cardiac conduction abnormality	11232	POLG2	OMIM:610131
HP:0031546	Cardiac conduction abnormality	1000	CDH2	OMIM:618920
HP:0031546	Cardiac conduction abnormality	11155	LDB3	OMIM:601493
HP:0031546	Cardiac conduction abnormality	51778	MYOZ2	OMIM:613838
HP:0031546	Cardiac conduction abnormality	5264	PHYH	ORPHA:773
HP:0031546	Cardiac conduction abnormality	5191	PEX7	ORPHA:773
HP:0031546	Cardiac conduction abnormality	6023	RMRP	ORPHA:175
HP:0031546	Cardiac conduction abnormality	4035	LRP1	ORPHA:79100
HP:0031546	Cardiac conduction abnormality	56244	BTNL2	ORPHA:797
HP:0031546	Cardiac conduction abnormality	3123	HLA-DRB1	ORPHA:797
HP:0031546	Cardiac conduction abnormality	1376	CPT2	ORPHA:228308
HP:0031546	Cardiac conduction abnormality	2783	GNB2	OMIM:619464
HP:0031546	Cardiac conduction abnormality	4535	MT-ND1	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4535	MT-ND1	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4536	MT-ND2	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4537	MT-ND3	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4538	MT-ND4	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4538	MT-ND4	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4567	MT-TL1	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4567	MT-TL1	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4578	MT-TW	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4578	MT-TW	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4577	MT-TV	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4508	MT-ATP6	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4540	MT-ND5	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4540	MT-ND5	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4541	MT-ND6	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	4541	MT-ND6	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4566	MT-TK	ORPHA:255210
HP:0031546	Cardiac conduction abnormality	57190	SELENON	ORPHA:97244
HP:0031546	Cardiac conduction abnormality	58	ACTA1	ORPHA:97244
HP:0031546	Cardiac conduction abnormality	4558	MT-TF	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4572	MT-TQ	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4512	MT-CO1	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4513	MT-CO2	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4514	MT-CO3	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4574	MT-TS1	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4575	MT-TS2	ORPHA:550
HP:0031546	Cardiac conduction abnormality	4564	MT-TH	ORPHA:550
HP:0031546	Cardiac conduction abnormality	1387	CREBBP	ORPHA:353281
HP:0031546	Cardiac conduction abnormality	1387	CREBBP	ORPHA:353277
HP:0031546	Cardiac conduction abnormality	2033	EP300	ORPHA:353284
HP:0031546	Cardiac conduction abnormality	773	CACNA1A	ORPHA:2131
HP:0031546	Cardiac conduction abnormality	6507	SLC1A3	ORPHA:2131
HP:0031546	Cardiac conduction abnormality	477	ATP1A2	ORPHA:2131
HP:0031546	Cardiac conduction abnormality	478	ATP1A3	ORPHA:2131
HP:0031546	Cardiac conduction abnormality	25915	NDUFAF3	ORPHA:70474
HP:0031546	Cardiac conduction abnormality	4714	NDUFB8	ORPHA:70474
HP:0031546	Cardiac conduction abnormality	4720	NDUFS2	ORPHA:70474
HP:0031546	Cardiac conduction abnormality	9997	SCO2	ORPHA:70474
HP:0031546	Cardiac conduction abnormality	6834	SURF1	ORPHA:70474
HP:0031546	Cardiac conduction abnormality	805	CALM2	OMIM:616249
HP:0031546	Cardiac conduction abnormality	801	CALM1	OMIM:616247
HP:0031547	Abnormal QT interval	1798	DPAGT1	ORPHA:86309
HP:0031547	Abnormal QT interval	6535	SLC6A8	OMIM:300352
HP:0031547	Abnormal QT interval	29925	GMPPB	OMIM:615351
HP:0031547	Abnormal QT interval	9992	KCNE2	OMIM:613693
HP:0031547	Abnormal QT interval	253017	TECRL	OMIM:614021
HP:0031547	Abnormal QT interval	801	CALM1	OMIM:616247
HP:0031547	Abnormal QT interval	6261	RYR1	ORPHA:466650
HP:0031547	Abnormal QT interval	2778	GNAS	ORPHA:94089
HP:0031547	Abnormal QT interval	2778	GNAS	ORPHA:79443
HP:0031547	Abnormal QT interval	2778	GNAS	ORPHA:79444
HP:0031547	Abnormal QT interval	8675	STX16	ORPHA:94089
HP:0031547	Abnormal QT interval	100134444	KCNJ18	ORPHA:79102
HP:0031547	Abnormal QT interval	2556	GABRA3	ORPHA:79102
HP:0031547	Abnormal QT interval	779	CACNA1S	ORPHA:79102
HP:0031547	Abnormal QT interval	10345	TRDN	OMIM:615441
HP:0031547	Abnormal QT interval	287	ANK2	OMIM:600919
HP:0031547	Abnormal QT interval	131118	DNAJC19	OMIM:610198
HP:0031547	Abnormal QT interval	131118	DNAJC19	ORPHA:66634
HP:0031547	Abnormal QT interval	3033	HADH	ORPHA:71212
HP:0031547	Abnormal QT interval	6331	SCN5A	OMIM:608567
HP:0031547	Abnormal QT interval	7139	TNNT2	OMIM:601494
HP:0031547	Abnormal QT interval	54795	TRPM4	OMIM:604559
HP:0031547	Abnormal QT interval	2239	GPC4	ORPHA:373
HP:0031547	Abnormal QT interval	2719	GPC3	ORPHA:373
HP:0031547	Abnormal QT interval	8929	PHOX2B	ORPHA:2151
HP:0031547	Abnormal QT interval	3753	KCNE1	OMIM:612347
HP:0031547	Abnormal QT interval	128989	TANGO2	ORPHA:480864
HP:0031547	Abnormal QT interval	6330	SCN4B	OMIM:611819
HP:0031547	Abnormal QT interval	37	ACADVL	ORPHA:26793
HP:0031547	Abnormal QT interval	859	CAV3	OMIM:611818
HP:0031547	Abnormal QT interval	57538	ALPK3	OMIM:618052
HP:0031547	Abnormal QT interval	5718	PSMD12	ORPHA:529962
HP:0031547	Abnormal QT interval	2186	BPTF	ORPHA:529962
HP:0031547	Abnormal QT interval	3752	KCND3	OMIM:616399
HP:0031547	Abnormal QT interval	6736	SRY	ORPHA:1772
HP:0031547	Abnormal QT interval	144245	ALG10B	OMIM:613688
HP:0031547	Abnormal QT interval	6559	SLC12A3	OMIM:263800
HP:0031547	Abnormal QT interval	6559	SLC12A3	ORPHA:358
HP:0031547	Abnormal QT interval	284119	CAVIN1	OMIM:613327
HP:0031547	Abnormal QT interval	3762	KCNJ5	ORPHA:251274
HP:0031547	Abnormal QT interval	3762	KCNJ5	ORPHA:37553
HP:0031547	Abnormal QT interval	1188	CLCNKB	ORPHA:358
HP:0031547	Abnormal QT interval	805	CALM2	ORPHA:101016
HP:0031547	Abnormal QT interval	805	CALM2	OMIM:616249
HP:0031547	Abnormal QT interval	6910	TBX5	ORPHA:101016
HP:0031547	Abnormal QT interval	6336	SCN10A	ORPHA:101016
HP:0031547	Abnormal QT interval	10142	AKAP9	ORPHA:101016
HP:0031547	Abnormal QT interval	10142	AKAP9	OMIM:611820
HP:0031547	Abnormal QT interval	9722	NOS1AP	ORPHA:101016
HP:0031547	Abnormal QT interval	808	CALM3	ORPHA:101016
HP:0031547	Abnormal QT interval	808	CALM3	OMIM:618782
HP:0031547	Abnormal QT interval	6640	SNTA1	ORPHA:101016
HP:0031547	Abnormal QT interval	6640	SNTA1	OMIM:612955
HP:0031547	Abnormal QT interval	3741	KCNA5	OMIM:612240
HP:0031547	Abnormal QT interval	6840	SVIL	OMIM:619040
HP:0031547	Abnormal QT interval	10021	HCN4	OMIM:163800
HP:0031547	Abnormal QT interval	2318	FLNC	OMIM:617047
HP:0031547	Abnormal QT interval	51086	TNNI3K	OMIM:616117
HP:0031547	Abnormal QT interval	4204	MECP2	OMIM:312750
HP:0031547	Abnormal QT interval	4221	MEN1	ORPHA:652
HP:0031547	Abnormal QT interval	1027	CDKN1B	ORPHA:652
HP:0031547	Abnormal QT interval	1026	CDKN1A	ORPHA:652
HP:0031547	Abnormal QT interval	1030	CDKN2B	ORPHA:652
HP:0031547	Abnormal QT interval	1031	CDKN2C	ORPHA:652
HP:0031547	Abnormal QT interval	79577	CDC73	ORPHA:143
HP:0031547	Abnormal QT interval	79577	CDC73	ORPHA:99880
HP:0031547	Abnormal QT interval	775	CACNA1C	OMIM:611875
HP:0031547	Abnormal QT interval	3759	KCNJ2	OMIM:609622
HP:0031547	Abnormal QT interval	3759	KCNJ2	ORPHA:51083
HP:0031547	Abnormal QT interval	783	CACNB2	OMIM:611876
HP:0031547	Abnormal QT interval	781	CACNA2D1	ORPHA:51083
HP:0031547	Abnormal QT interval	3784	KCNQ1	ORPHA:51083
HP:0031547	Abnormal QT interval	3784	KCNQ1	OMIM:609621
HP:0031547	Abnormal QT interval	3757	KCNH2	ORPHA:51083
HP:0031547	Abnormal QT interval	3757	KCNH2	OMIM:609620
HP:0031547	Abnormal QT interval	6508	SLC4A3	ORPHA:51083
HP:0031547	Abnormal QT interval	6508	SLC4A3	OMIM:620231
HP:0031547	Abnormal QT interval	2783	GNB2	OMIM:619464
HP:0031550	Abnormal flow cytometry test result	93183	PIGM	OMIM:610293
HP:0031550	Abnormal flow cytometry test result	10026	PIGK	OMIM:618879
HP:0031551	Reduced cell surface marker level	93183	PIGM	OMIM:610293
HP:0031551	Reduced cell surface marker level	10026	PIGK	OMIM:618879
HP:0031553	Reduced granulocyte surface marker level	93183	PIGM	OMIM:610293
HP:0031555	Reduced granulocyte CD59 level	93183	PIGM	OMIM:610293
HP:0100670	Coarse metaphyseal trabecularization	7421	VDR	ORPHA:93160
HP:0100670	Coarse metaphyseal trabecularization	5331	PLCB3	OMIM:618961
HP:0100670	Coarse metaphyseal trabecularization	64840	PORCN	ORPHA:2092
HP:0100670	Coarse metaphyseal trabecularization	80169	CTC1	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	26277	TINF2	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	55651	NHP2	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	79650	USB1	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	55135	WRAP53	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	51750	RTEL1	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	4869	NPM1	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	7012	TERC	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	55505	NOP10	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	5073	PARN	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	7015	TERT	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	1736	DKC1	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	7298	TYMS	ORPHA:1775
HP:0100670	Coarse metaphyseal trabecularization	59341	TRPV4	ORPHA:2635
HP:0100670	Coarse metaphyseal trabecularization	4982	TNFRSF11B	ORPHA:2801
HP:0100670	Coarse metaphyseal trabecularization	8792	TNFRSF11A	ORPHA:2801
HP:0100670	Coarse metaphyseal trabecularization	8792	TNFRSF11A	ORPHA:1782
HP:0100670	Coarse metaphyseal trabecularization	10312	TCIRG1	ORPHA:1782
HP:0100670	Coarse metaphyseal trabecularization	55315	SLC29A3	ORPHA:1782
HP:0100670	Coarse metaphyseal trabecularization	139285	AMER1	ORPHA:2780
HP:0100670	Coarse metaphyseal trabecularization	4853	NOTCH2	ORPHA:955
HP:0100671	Abnormal trabecular bone morphology	7421	VDR	OMIM:277440
HP:0100671	Abnormal trabecular bone morphology	120227	CYP2R1	OMIM:600081
HP:0100671	Abnormal trabecular bone morphology	120227	CYP2R1	ORPHA:289157
HP:0100671	Abnormal trabecular bone morphology	1594	CYP27B1	OMIM:264700
HP:0100671	Abnormal trabecular bone morphology	1594	CYP27B1	ORPHA:289157
HP:0100671	Abnormal trabecular bone morphology	1184	CLCN5	OMIM:300554
HP:0100671	Abnormal trabecular bone morphology	1184	CLCN5	OMIM:300009
HP:0100671	Abnormal trabecular bone morphology	142680	SLC34A3	OMIM:241530
HP:0100671	Abnormal trabecular bone morphology	5331	PLCB3	OMIM:618961
HP:0100671	Abnormal trabecular bone morphology	64840	PORCN	ORPHA:2092
HP:0100671	Abnormal trabecular bone morphology	80169	CTC1	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	26277	TINF2	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	55651	NHP2	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	79650	USB1	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	55135	WRAP53	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	51750	RTEL1	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	4869	NPM1	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	7012	TERC	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	55505	NOP10	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	5073	PARN	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	7015	TERT	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	1736	DKC1	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	7298	TYMS	ORPHA:1775
HP:0100671	Abnormal trabecular bone morphology	59341	TRPV4	ORPHA:2635
HP:0100671	Abnormal trabecular bone morphology	4982	TNFRSF11B	ORPHA:2801
HP:0100671	Abnormal trabecular bone morphology	8792	TNFRSF11A	ORPHA:2801
HP:0100671	Abnormal trabecular bone morphology	8792	TNFRSF11A	ORPHA:1782
HP:0100671	Abnormal trabecular bone morphology	10312	TCIRG1	ORPHA:1782
HP:0100671	Abnormal trabecular bone morphology	55315	SLC29A3	ORPHA:1782
HP:0100671	Abnormal trabecular bone morphology	139285	AMER1	ORPHA:2780
HP:0100671	Abnormal trabecular bone morphology	4853	NOTCH2	ORPHA:955
HP:0100671	Abnormal trabecular bone morphology	5745	PTH1R	ORPHA:79106
HP:0100671	Abnormal trabecular bone morphology	9401	RECQL4	ORPHA:221016
HP:0100671	Abnormal trabecular bone morphology	1758	DMP1	ORPHA:289176
HP:0100671	Abnormal trabecular bone morphology	5167	ENPP1	ORPHA:289176
HP:0100671	Abnormal trabecular bone morphology	64682	ANAPC1	ORPHA:221008
HP:0100672	Vaginal hernia	1281	COL3A1	OMIM:130050
HP:0100672	Vaginal hernia	1281	COL3A1	ORPHA:286
HP:0100672	Vaginal hernia	4088	SMAD3	OMIM:613795
HP:0100678	Premature skin wrinkling	128178	EDARADD	OMIM:224900
HP:0100678	Premature skin wrinkling	128178	EDARADD	OMIM:614941
HP:0100678	Premature skin wrinkling	10913	EDAR	OMIM:224900
HP:0100678	Premature skin wrinkling	1009	CDH11	ORPHA:1299
HP:0100678	Premature skin wrinkling	1896	EDA	OMIM:305100
HP:0100678	Premature skin wrinkling	91949	COG7	OMIM:608779
HP:0100678	Premature skin wrinkling	91949	COG7	ORPHA:79333
HP:0100678	Premature skin wrinkling	1281	COL3A1	ORPHA:286
HP:0100678	Premature skin wrinkling	1281	COL3A1	ORPHA:2500
HP:0100678	Premature skin wrinkling	8367	H4C5	OMIM:619950
HP:0100678	Premature skin wrinkling	523	ATP6V1A	ORPHA:357074
HP:0100678	Premature skin wrinkling	529	ATP6V1E1	ORPHA:357074
HP:0100678	Premature skin wrinkling	5831	PYCR1	OMIM:612940
HP:0100678	Premature skin wrinkling	5831	PYCR1	OMIM:614438
HP:0100678	Premature skin wrinkling	5604	MAP2K1	ORPHA:1340
HP:0100678	Premature skin wrinkling	5605	MAP2K2	ORPHA:1340
HP:0100678	Premature skin wrinkling	3845	KRAS	ORPHA:1340
HP:0100678	Premature skin wrinkling	673	BRAF	ORPHA:1340
HP:0100678	Premature skin wrinkling	673	BRAF	ORPHA:500
HP:0100678	Premature skin wrinkling	5167	ENPP1	ORPHA:758
HP:0100678	Premature skin wrinkling	368	ABCC6	ORPHA:758
HP:0100678	Premature skin wrinkling	9719	ADAMTSL2	ORPHA:1901
HP:0100678	Premature skin wrinkling	9509	ADAMTS2	ORPHA:1901
HP:0100678	Premature skin wrinkling	51750	RTEL1	ORPHA:3322
HP:0100678	Premature skin wrinkling	65057	ACD	ORPHA:3322
HP:0100678	Premature skin wrinkling	5073	PARN	ORPHA:3322
HP:0100678	Premature skin wrinkling	7015	TERT	ORPHA:3322
HP:0100678	Premature skin wrinkling	26277	TINF2	ORPHA:3322
HP:0100678	Premature skin wrinkling	1736	DKC1	ORPHA:3322
HP:0100678	Premature skin wrinkling	5781	PTPN11	ORPHA:500
HP:0100678	Premature skin wrinkling	5894	RAF1	ORPHA:500
HP:0100678	Premature skin wrinkling	5728	PTEN	ORPHA:137608
HP:0100678	Premature skin wrinkling	23545	ATP6V0A2	ORPHA:2834
HP:0100678	Premature skin wrinkling	1080	CFTR	ORPHA:498359
HP:0100678	Premature skin wrinkling	715	C1R	OMIM:130080
HP:0100678	Premature skin wrinkling	2261	FGFR3	OMIM:616482
HP:0100678	Premature skin wrinkling	22808	MRAS	OMIM:618499
HP:0100678	Premature skin wrinkling	5351	PLOD1	OMIM:225400
HP:0100678	Premature skin wrinkling	8216	LZTR1	OMIM:616564
HP:0100678	Premature skin wrinkling	8216	LZTR1	OMIM:605275
HP:0100678	Premature skin wrinkling	84627	ZNF469	OMIM:229200
HP:0100678	Premature skin wrinkling	6016	RIT1	OMIM:615355
HP:0100678	Premature skin wrinkling	2263	FGFR2	OMIM:123790
HP:0100678	Premature skin wrinkling	9333	TGM5	ORPHA:263534
HP:0100678	Premature skin wrinkling	1475	CSTA	ORPHA:263534
HP:0100678	Premature skin wrinkling	79718	TBL1XR1	ORPHA:487825
HP:0100678	Premature skin wrinkling	9968	MED12	ORPHA:93932
HP:0100678	Premature skin wrinkling	9968	MED12	OMIM:305450
HP:0100678	Premature skin wrinkling	857	CAV1	OMIM:606721
HP:0100678	Premature skin wrinkling	8260	NAA10	OMIM:300855
HP:0100678	Premature skin wrinkling	5295	PIK3R1	OMIM:269880
HP:0100678	Premature skin wrinkling	3763	KCNJ6	ORPHA:435628
HP:0100678	Premature skin wrinkling	10466	COG5	ORPHA:263487
HP:0100678	Premature skin wrinkling	51116	MRPS2	OMIM:617950
HP:0100678	Premature skin wrinkling	1861	TOR1A	OMIM:618947
HP:0100678	Premature skin wrinkling	29957	SLC25A24	OMIM:612289
HP:0100678	Premature skin wrinkling	117581	TWIST2	OMIM:209885
HP:0100678	Premature skin wrinkling	117581	TWIST2	OMIM:200110
HP:0100678	Premature skin wrinkling	2006	ELN	ORPHA:90348
HP:0100678	Premature skin wrinkling	10516	FBLN5	ORPHA:90348
HP:0100678	Premature skin wrinkling	10516	FBLN5	OMIM:614434
HP:0100678	Premature skin wrinkling	5832	ALDH18A1	ORPHA:90348
HP:0100678	Premature skin wrinkling	5832	ALDH18A1	OMIM:616603
HP:0100678	Premature skin wrinkling	92344	GORAB	OMIM:231070
HP:0100678	Premature skin wrinkling	11128	POLR3A	OMIM:264090
HP:0100678	Premature skin wrinkling	11128	POLR3A	ORPHA:3455
HP:0100678	Premature skin wrinkling	6513	SLC2A1	ORPHA:1942
HP:0100678	Premature skin wrinkling	8831	SYNGAP1	ORPHA:1942
HP:0100678	Premature skin wrinkling	1173	AP2M1	ORPHA:1942
HP:0100678	Premature skin wrinkling	6323	SCN1A	ORPHA:1942
HP:0100678	Premature skin wrinkling	340533	NEXMIF	ORPHA:1942
HP:0100678	Premature skin wrinkling	1106	CHD2	ORPHA:1942
HP:0100678	Premature skin wrinkling	6529	SLC6A1	ORPHA:1942
HP:0100678	Premature skin wrinkling	79053	ALG8	ORPHA:79325
HP:0100678	Premature skin wrinkling	4000	LMNA	ORPHA:740
HP:0100678	Premature skin wrinkling	4000	LMNA	ORPHA:363618
HP:0100678	Premature skin wrinkling	10269	ZMPSTE24	ORPHA:740
HP:0100678	Premature skin wrinkling	6888	TALDO1	ORPHA:101028
HP:0100678	Premature skin wrinkling	6595	SMARCA2	OMIM:601358
HP:0100678	Premature skin wrinkling	3977	LIFR	OMIM:601559
HP:0100679	Lack of skin elasticity	4088	SMAD3	ORPHA:284984
HP:0100679	Lack of skin elasticity	4088	SMAD3	OMIM:613795
HP:0100679	Lack of skin elasticity	8450	CUL4B	OMIM:300354
HP:0100679	Lack of skin elasticity	84196	USP48	ORPHA:96253
HP:0100679	Lack of skin elasticity	7157	TP53	ORPHA:96253
HP:0100679	Lack of skin elasticity	7157	TP53	ORPHA:1501
HP:0100679	Lack of skin elasticity	9101	USP8	ORPHA:96253
HP:0100679	Lack of skin elasticity	9101	USP8	OMIM:219090
HP:0100679	Lack of skin elasticity	64072	CDH23	ORPHA:96253
HP:0100679	Lack of skin elasticity	2908	NR3C1	ORPHA:96253
HP:0100679	Lack of skin elasticity	673	BRAF	ORPHA:96253
HP:0100679	Lack of skin elasticity	546	ATRX	ORPHA:96253
HP:0100679	Lack of skin elasticity	23013	SPEN	OMIM:619312
HP:0100679	Lack of skin elasticity	1315	COPB1	OMIM:619255
HP:0100679	Lack of skin elasticity	5566	PRKACA	ORPHA:189439
HP:0100679	Lack of skin elasticity	8622	PDE8B	ORPHA:189439
HP:0100679	Lack of skin elasticity	5573	PRKAR1A	ORPHA:189439
HP:0100679	Lack of skin elasticity	5573	PRKAR1A	OMIM:610489
HP:0100679	Lack of skin elasticity	5573	PRKAR1A	ORPHA:1501
HP:0100679	Lack of skin elasticity	5573	PRKAR1A	ORPHA:1359
HP:0100679	Lack of skin elasticity	50940	PDE11A	ORPHA:189439
HP:0100679	Lack of skin elasticity	50940	PDE11A	OMIM:610475
HP:0100679	Lack of skin elasticity	50940	PDE11A	ORPHA:1359
HP:0100679	Lack of skin elasticity	4087	SMAD2	OMIM:619656
HP:0100679	Lack of skin elasticity	2778	GNAS	OMIM:219080
HP:0100679	Lack of skin elasticity	2778	GNAS	ORPHA:189427
HP:0100679	Lack of skin elasticity	7048	TGFBR2	OMIM:610168
HP:0100679	Lack of skin elasticity	7048	TGFBR2	ORPHA:60030
HP:0100679	Lack of skin elasticity	84133	ZNRF3	ORPHA:1501
HP:0100679	Lack of skin elasticity	1499	CTNNB1	ORPHA:1501
HP:0100679	Lack of skin elasticity	1029	CDKN2A	ORPHA:1501
HP:0100679	Lack of skin elasticity	7015	TERT	ORPHA:1501
HP:0100679	Lack of skin elasticity	1277	COL1A1	ORPHA:287
HP:0100679	Lack of skin elasticity	1289	COL5A1	ORPHA:287
HP:0100679	Lack of skin elasticity	1289	COL5A1	OMIM:619329
HP:0100679	Lack of skin elasticity	1290	COL5A2	ORPHA:287
HP:0100679	Lack of skin elasticity	7148	TNXB	OMIM:606408
HP:0100679	Lack of skin elasticity	633	BGN	OMIM:300989
HP:0100679	Lack of skin elasticity	4015	LOX	OMIM:617168
HP:0100679	Lack of skin elasticity	1742	DLG4	OMIM:618793
HP:0100679	Lack of skin elasticity	7046	TGFBR1	ORPHA:60030
HP:0100679	Lack of skin elasticity	10526	IPO8	ORPHA:60030
HP:0100679	Lack of skin elasticity	79798	ARMC5	ORPHA:189427
HP:0100679	Lack of skin elasticity	9049	AIP	OMIM:219090
HP:0100679	Lack of skin elasticity	7042	TGFB2	OMIM:614816
HP:0100679	Lack of skin elasticity	3265	HRAS	ORPHA:3071
HP:0100679	Lack of skin elasticity	4000	LMNA	ORPHA:740
HP:0100679	Lack of skin elasticity	4000	LMNA	ORPHA:79474
HP:0100679	Lack of skin elasticity	4000	LMNA	ORPHA:90153
HP:0100679	Lack of skin elasticity	10269	ZMPSTE24	ORPHA:740
HP:0100679	Lack of skin elasticity	2200	FBN1	OMIM:608328
HP:0100679	Lack of skin elasticity	2200	FBN1	ORPHA:2833
HP:0100679	Lack of skin elasticity	7051	TGM1	ORPHA:281127
HP:0100679	Lack of skin elasticity	7051	TGM1	ORPHA:313
HP:0100679	Lack of skin elasticity	56916	SMARCAD1	ORPHA:384
HP:0100679	Lack of skin elasticity	5424	POLD1	OMIM:615381
HP:0100679	Lack of skin elasticity	4052	LTBP1	ORPHA:90349
HP:0100679	Lack of skin elasticity	30008	EFEMP2	ORPHA:90349
HP:0100679	Lack of skin elasticity	10516	FBLN5	ORPHA:90349
HP:0100679	Lack of skin elasticity	5831	PYCR1	OMIM:612940
HP:0100679	Lack of skin elasticity	5167	ENPP1	ORPHA:758
HP:0100679	Lack of skin elasticity	368	ABCC6	ORPHA:758
HP:0100679	Lack of skin elasticity	5053	PAH	ORPHA:79254
HP:0100679	Lack of skin elasticity	9719	ADAMTSL2	OMIM:231050
HP:0100679	Lack of skin elasticity	10651	MTX2	ORPHA:90153
HP:0100679	Lack of skin elasticity	7486	WRN	ORPHA:902
HP:0100679	Lack of skin elasticity	151516	ASPRV1	ORPHA:313
HP:0100679	Lack of skin elasticity	242	ALOX12B	ORPHA:313
HP:0100679	Lack of skin elasticity	126410	CYP4F22	ORPHA:313
HP:0100679	Lack of skin elasticity	6820	SULT2B1	ORPHA:313
HP:0100679	Lack of skin elasticity	26154	ABCA12	ORPHA:313
HP:0100679	Lack of skin elasticity	643418	LIPN	ORPHA:313
HP:0100679	Lack of skin elasticity	59344	ALOXE3	ORPHA:313
HP:0100679	Lack of skin elasticity	348938	NIPAL4	ORPHA:313
HP:0100679	Lack of skin elasticity	121214	SDR9C7	ORPHA:313
HP:0011145	Symptomatic seizures	3767	KCNJ11	ORPHA:276580
HP:0011145	Symptomatic seizures	2645	GCK	OMIM:602485
HP:0011145	Symptomatic seizures	56246	MRAP	ORPHA:361
HP:0011145	Symptomatic seizures	6770	STAR	ORPHA:361
HP:0011145	Symptomatic seizures	4158	MC2R	ORPHA:361
HP:0011145	Symptomatic seizures	23530	NNT	ORPHA:361
HP:0011145	Symptomatic seizures	10587	TXNRD2	ORPHA:361
HP:0011145	Symptomatic seizures	3643	INSR	OMIM:609968
HP:0011145	Symptomatic seizures	9095	TBX19	ORPHA:199296
HP:0011145	Symptomatic seizures	5443	POMC	OMIM:609734
HP:0011145	Symptomatic seizures	5443	POMC	ORPHA:71526
HP:0011145	Symptomatic seizures	6927	HNF1A	ORPHA:324575
HP:0011145	Symptomatic seizures	5626	PROP1	OMIM:262600
HP:0011145	Symptomatic seizures	23126	POGZ	OMIM:616364
HP:0011145	Symptomatic seizures	3033	HADH	OMIM:231530
HP:0011145	Symptomatic seizures	3033	HADH	ORPHA:71212
HP:0011145	Symptomatic seizures	3033	HADH	OMIM:609975
HP:0011145	Symptomatic seizures	5122	PCSK1	ORPHA:71528
HP:0011145	Symptomatic seizures	6566	SLC16A1	OMIM:610021
HP:0011145	Symptomatic seizures	7351	UCP2	ORPHA:276556
HP:0011145	Symptomatic seizures	208	AKT2	ORPHA:293964
HP:0011145	Symptomatic seizures	6833	ABCC8	OMIM:256450
HP:0011145	Symptomatic seizures	6833	ABCC8	ORPHA:276575
HP:0011145	Symptomatic seizures	55186	SLC25A36	OMIM:620211
HP:0011145	Symptomatic seizures	2746	GLUD1	OMIM:606762
HP:0011145	Symptomatic seizures	128989	TANGO2	ORPHA:480864
HP:0011145	Symptomatic seizures	2542	SLC37A4	ORPHA:79259
HP:0011145	Symptomatic seizures	9247	GCM2	OMIM:618883
HP:0011145	Symptomatic seizures	9247	GCM2	ORPHA:2239
HP:0011145	Symptomatic seizures	1594	CYP27B1	OMIM:264700
HP:0011145	Symptomatic seizures	1594	CYP27B1	ORPHA:289157
HP:0011145	Symptomatic seizures	6905	TBCE	OMIM:241410
HP:0011145	Symptomatic seizures	6905	TBCE	ORPHA:93324
HP:0011145	Symptomatic seizures	120227	CYP2R1	ORPHA:289157
HP:0011145	Symptomatic seizures	2625	GATA3	ORPHA:2237
HP:0011145	Symptomatic seizures	7421	VDR	OMIM:277440
HP:0011145	Symptomatic seizures	5741	PTH	OMIM:146200
HP:0011145	Symptomatic seizures	8792	TNFRSF11A	OMIM:612301
HP:0011145	Symptomatic seizures	2778	GNAS	ORPHA:94089
HP:0011145	Symptomatic seizures	2778	GNAS	ORPHA:79443
HP:0011145	Symptomatic seizures	2778	GNAS	ORPHA:79444
HP:0011145	Symptomatic seizures	8675	STX16	ORPHA:94089
HP:0011145	Symptomatic seizures	63901	FAM111A	ORPHA:93325
HP:0011146	Dialeptic seizure	84706	GPT2	OMIM:616281
HP:0011146	Dialeptic seizure	4524	MTHFR	ORPHA:395
HP:0011146	Dialeptic seizure	4791	NFKB2	ORPHA:293978
HP:0011146	Dialeptic seizure	26960	NBEA	OMIM:619157
HP:0011146	Dialeptic seizure	340533	NEXMIF	OMIM:300912
HP:0011146	Dialeptic seizure	340533	NEXMIF	ORPHA:1942
HP:0011146	Dialeptic seizure	57468	SLC12A5	OMIM:616685
HP:0011146	Dialeptic seizure	8733	GPAA1	OMIM:617810
HP:0011146	Dialeptic seizure	114327	EFHC1	OMIM:254770
HP:0011146	Dialeptic seizure	114327	EFHC1	ORPHA:307
HP:0011146	Dialeptic seizure	114327	EFHC1	OMIM:607631
HP:0011146	Dialeptic seizure	114327	EFHC1	ORPHA:1941
HP:0011146	Dialeptic seizure	11133	KPTN	OMIM:615637
HP:0011146	Dialeptic seizure	1181	CLCN2	ORPHA:307
HP:0011146	Dialeptic seizure	1181	CLCN2	OMIM:607628
HP:0011146	Dialeptic seizure	22858	CILK1	ORPHA:307
HP:0011146	Dialeptic seizure	22858	CILK1	OMIM:617924
HP:0011146	Dialeptic seizure	8629	JRK	ORPHA:307
HP:0011146	Dialeptic seizure	79813	EHMT1	ORPHA:96147
HP:0011146	Dialeptic seizure	80232	WDR26	ORPHA:513456
HP:0011146	Dialeptic seizure	54344	DPM3	OMIM:618992
HP:0011146	Dialeptic seizure	5515	PPP2CA	OMIM:618354
HP:0011146	Dialeptic seizure	24137	KIF4A	OMIM:300923
HP:0011146	Dialeptic seizure	6096	RORB	OMIM:618357
HP:0011146	Dialeptic seizure	7532	YWHAG	OMIM:617665
HP:0011146	Dialeptic seizure	80055	PGAP1	OMIM:615802
HP:0011146	Dialeptic seizure	1476	CSTB	OMIM:254800
HP:0011146	Dialeptic seizure	55768	NGLY1	ORPHA:404454
HP:0011146	Dialeptic seizure	3908	LAMA2	ORPHA:258
HP:0011146	Dialeptic seizure	347733	TUBB2B	ORPHA:467166
HP:0011146	Dialeptic seizure	7846	TUBA1A	ORPHA:467166
HP:0011146	Dialeptic seizure	10381	TUBB3	ORPHA:467166
HP:0011146	Dialeptic seizure	6609	SMPD1	ORPHA:77293
HP:0011146	Dialeptic seizure	3899	AFF3	OMIM:619297
HP:0011146	Dialeptic seizure	80224	NUBPL	OMIM:618242
HP:0011146	Dialeptic seizure	79029	AFG2B	OMIM:619616
HP:0011146	Dialeptic seizure	815	CAMK2A	OMIM:617798
HP:0011146	Dialeptic seizure	2664	GDI1	OMIM:300849
HP:0011146	Dialeptic seizure	27315	PGAP2	OMIM:614207
HP:0011146	Dialeptic seizure	84188	FAR1	OMIM:619338
HP:0011146	Dialeptic seizure	9570	GOSR2	OMIM:620166
HP:0011146	Dialeptic seizure	9570	GOSR2	OMIM:614018
HP:0011146	Dialeptic seizure	23327	NEDD4L	OMIM:617201
HP:0011146	Dialeptic seizure	4915	NTRK2	OMIM:613886
HP:0011146	Dialeptic seizure	1954	MEGF8	OMIM:614976
HP:0011146	Dialeptic seizure	6304	SATB1	OMIM:619229
HP:0011146	Dialeptic seizure	26227	PHGDH	ORPHA:79351
HP:0011146	Dialeptic seizure	6513	SLC2A1	ORPHA:98811
HP:0011146	Dialeptic seizure	6513	SLC2A1	ORPHA:1942
HP:0011146	Dialeptic seizure	7915	ALDH5A1	OMIM:271980
HP:0011146	Dialeptic seizure	2746	GLUD1	ORPHA:35878
HP:0011146	Dialeptic seizure	51604	PIGT	OMIM:615398
HP:0011146	Dialeptic seizure	51604	PIGT	ORPHA:369837
HP:0011146	Dialeptic seizure	5063	PAK3	OMIM:300558
HP:0011146	Dialeptic seizure	23443	SLC35A3	OMIM:615553
HP:0011146	Dialeptic seizure	23443	SLC35A3	ORPHA:370943
HP:0011146	Dialeptic seizure	80036	TRPM3	OMIM:620224
HP:0011146	Dialeptic seizure	57459	GATAD2B	ORPHA:363686
HP:0011146	Dialeptic seizure	6595	SMARCA2	ORPHA:3051
HP:0011146	Dialeptic seizure	55210	ATAD3A	OMIM:617183
HP:0011146	Dialeptic seizure	10472	ZBTB18	OMIM:612337
HP:0011146	Dialeptic seizure	6529	SLC6A1	OMIM:616421
HP:0011146	Dialeptic seizure	6529	SLC6A1	ORPHA:1942
HP:0011146	Dialeptic seizure	6651	SON	ORPHA:500150
HP:0011146	Dialeptic seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0011146	Dialeptic seizure	2146	EZH2	OMIM:277590
HP:0011146	Dialeptic seizure	1719	DHFR	OMIM:613839
HP:0011146	Dialeptic seizure	8831	SYNGAP1	ORPHA:1942
HP:0011146	Dialeptic seizure	54936	ADPRS	OMIM:618170
HP:0011146	Dialeptic seizure	4204	MECP2	OMIM:300260
HP:0011146	Dialeptic seizure	1893	ECM1	OMIM:247100
HP:0011146	Dialeptic seizure	8621	CDK13	OMIM:617360
HP:0011146	Dialeptic seizure	93183	PIGM	OMIM:610293
HP:0011146	Dialeptic seizure	93587	TRMT10A	OMIM:616033
HP:0011146	Dialeptic seizure	2702	GJA5	OMIM:612474
HP:0011146	Dialeptic seizure	2703	GJA8	OMIM:612474
HP:0011146	Dialeptic seizure	6792	CDKL5	ORPHA:1934
HP:0011146	Dialeptic seizure	3736	KCNA1	ORPHA:1934
HP:0011146	Dialeptic seizure	9091	PIGQ	ORPHA:1934
HP:0011146	Dialeptic seizure	79751	SLC25A22	ORPHA:1934
HP:0011146	Dialeptic seizure	150094	SIK1	ORPHA:1934
HP:0011146	Dialeptic seizure	8573	CASK	ORPHA:1934
HP:0011146	Dialeptic seizure	23312	DMXL2	ORPHA:1934
HP:0011146	Dialeptic seizure	2917	GRM7	ORPHA:1934
HP:0011146	Dialeptic seizure	170302	ARX	ORPHA:1934
HP:0011146	Dialeptic seizure	11284	PNKP	ORPHA:1934
HP:0011146	Dialeptic seizure	51227	PIGP	ORPHA:1934
HP:0011146	Dialeptic seizure	4761	NEUROD2	ORPHA:1934
HP:0011146	Dialeptic seizure	6323	SCN1A	OMIM:607208
HP:0011146	Dialeptic seizure	6323	SCN1A	ORPHA:36387
HP:0011146	Dialeptic seizure	6323	SCN1A	ORPHA:33069
HP:0011146	Dialeptic seizure	10059	DNM1L	ORPHA:330050
HP:0011146	Dialeptic seizure	2775	GNAO1	OMIM:617493
HP:0011146	Dialeptic seizure	1173	AP2M1	OMIM:618587
HP:0011146	Dialeptic seizure	1183	CLCN4	OMIM:300114
HP:0011146	Dialeptic seizure	1183	CLCN4	ORPHA:485350
HP:0011146	Dialeptic seizure	23019	CNOT1	OMIM:618500
HP:0011146	Dialeptic seizure	55823	VPS11	OMIM:616683
HP:0011146	Dialeptic seizure	23135	KDM6B	OMIM:618505
HP:0011146	Dialeptic seizure	2904	GRIN2B	OMIM:613970
HP:0011146	Dialeptic seizure	92335	STRADA	ORPHA:500533
HP:0011146	Dialeptic seizure	6328	SCN3A	OMIM:617935
HP:0011146	Dialeptic seizure	6334	SCN8A	ORPHA:306
HP:0011146	Dialeptic seizure	6334	SCN8A	ORPHA:31709
HP:0011146	Dialeptic seizure	6334	SCN8A	OMIM:617080
HP:0011146	Dialeptic seizure	6326	SCN2A	ORPHA:306
HP:0011146	Dialeptic seizure	6326	SCN2A	ORPHA:36387
HP:0011146	Dialeptic seizure	6326	SCN2A	ORPHA:33069
HP:0011146	Dialeptic seizure	6326	SCN2A	OMIM:607745
HP:0011146	Dialeptic seizure	112476	PRRT2	ORPHA:306
HP:0011146	Dialeptic seizure	112476	PRRT2	OMIM:605751
HP:0011146	Dialeptic seizure	112476	PRRT2	ORPHA:31709
HP:0011146	Dialeptic seizure	3785	KCNQ2	ORPHA:306
HP:0011146	Dialeptic seizure	3786	KCNQ3	ORPHA:306
HP:0011146	Dialeptic seizure	8496	PPFIBP1	OMIM:620024
HP:0011146	Dialeptic seizure	23126	POGZ	ORPHA:468678
HP:0011146	Dialeptic seizure	23126	POGZ	OMIM:616364
HP:0011146	Dialeptic seizure	64324	NSD1	ORPHA:821
HP:0011146	Dialeptic seizure	29072	SETD2	ORPHA:821
HP:0011146	Dialeptic seizure	10297	APC2	ORPHA:821
HP:0011146	Dialeptic seizure	2258	FGF13	OMIM:301058
HP:0011146	Dialeptic seizure	57165	GJC2	OMIM:608804
HP:0011146	Dialeptic seizure	2593	GAMT	ORPHA:382
HP:0011146	Dialeptic seizure	387119	CEP85L	OMIM:618873
HP:0011146	Dialeptic seizure	112755	STX1B	OMIM:616172
HP:0011146	Dialeptic seizure	112755	STX1B	ORPHA:36387
HP:0011146	Dialeptic seizure	3745	KCNB1	OMIM:616056
HP:0011146	Dialeptic seizure	2782	GNB1	ORPHA:488613
HP:0011146	Dialeptic seizure	2782	GNB1	OMIM:616973
HP:0011146	Dialeptic seizure	478	ATP1A3	OMIM:619606
HP:0011146	Dialeptic seizure	6900	CNTN2	OMIM:615400
HP:0011146	Dialeptic seizure	4041	LRP5	OMIM:259770
HP:0011146	Dialeptic seizure	5649	RELN	OMIM:600512
HP:0011146	Dialeptic seizure	64780	MICAL1	OMIM:600512
HP:0011146	Dialeptic seizure	9211	LGI1	OMIM:600512
HP:0011146	Dialeptic seizure	51083	GAL	OMIM:616461
HP:0011146	Dialeptic seizure	535	ATP6V0A1	OMIM:619970
HP:0011146	Dialeptic seizure	816	CAMK2B	OMIM:617799
HP:0011146	Dialeptic seizure	23229	ARHGEF9	ORPHA:163985
HP:0011146	Dialeptic seizure	23229	ARHGEF9	OMIM:300607
HP:0011146	Dialeptic seizure	116150	NUS1	OMIM:617831
HP:0011146	Dialeptic seizure	1759	DNM1	OMIM:616346
HP:0011146	Dialeptic seizure	3064	HTT	OMIM:617435
HP:0011146	Dialeptic seizure	267010	RNU12	OMIM:620208
HP:0011146	Dialeptic seizure	2770	GNAI1	OMIM:619854
HP:0011146	Dialeptic seizure	2055	CLN8	OMIM:610003
HP:0011146	Dialeptic seizure	2055	CLN8	ORPHA:1947
HP:0011146	Dialeptic seizure	23732	FRRS1L	ORPHA:725
HP:0011146	Dialeptic seizure	2903	GRIN2A	ORPHA:725
HP:0011146	Dialeptic seizure	2903	GRIN2A	ORPHA:98818
HP:0011146	Dialeptic seizure	2903	GRIN2A	OMIM:245570
HP:0011146	Dialeptic seizure	1000	CDH2	OMIM:618929
HP:0011146	Dialeptic seizure	128989	TANGO2	ORPHA:480864
HP:0011146	Dialeptic seizure	8131	NPRL3	ORPHA:98820
HP:0011146	Dialeptic seizure	10641	NPRL2	ORPHA:98820
HP:0011146	Dialeptic seizure	9681	DEPDC5	ORPHA:98820
HP:0011146	Dialeptic seizure	2898	GRIK2	OMIM:619580
HP:0011146	Dialeptic seizure	56776	FMN2	OMIM:616193
HP:0011146	Dialeptic seizure	283987	HID1	OMIM:619983
HP:0011146	Dialeptic seizure	776	CACNA1D	ORPHA:369929
HP:0011146	Dialeptic seizure	56479	KCNQ5	OMIM:617601
HP:0011146	Dialeptic seizure	23152	CIC	OMIM:617600
HP:0011146	Dialeptic seizure	2783	GNB2	OMIM:619503
HP:0011146	Dialeptic seizure	9419	CRIPT	OMIM:615789
HP:0011146	Dialeptic seizure	6335	SCN9A	ORPHA:36387
HP:0011146	Dialeptic seizure	6335	SCN9A	ORPHA:33069
HP:0011146	Dialeptic seizure	2563	GABRD	ORPHA:36387
HP:0011146	Dialeptic seizure	6324	SCN1B	ORPHA:36387
HP:0011146	Dialeptic seizure	6324	SCN1B	ORPHA:33069
HP:0011146	Dialeptic seizure	348980	HCN1	ORPHA:36387
HP:0011146	Dialeptic seizure	84059	ADGRV1	ORPHA:36387
HP:0011146	Dialeptic seizure	2566	GABRG2	ORPHA:36387
HP:0011146	Dialeptic seizure	2566	GABRG2	ORPHA:33069
HP:0011146	Dialeptic seizure	2566	GABRG2	OMIM:618396
HP:0011146	Dialeptic seizure	2261	FGFR3	OMIM:616482
HP:0011146	Dialeptic seizure	3747	KCNC2	OMIM:619913
HP:0011146	Dialeptic seizure	23040	MYT1L	OMIM:616521
HP:0011146	Dialeptic seizure	4983	OPHN1	ORPHA:137831
HP:0011146	Dialeptic seizure	85440	DOCK7	ORPHA:411986
HP:0011146	Dialeptic seizure	85440	DOCK7	OMIM:615859
HP:0011146	Dialeptic seizure	2554	GABRA1	ORPHA:33069
HP:0011146	Dialeptic seizure	2554	GABRA1	OMIM:615744
HP:0011146	Dialeptic seizure	57526	PCDH19	ORPHA:33069
HP:0011146	Dialeptic seizure	378884	NHLRC1	ORPHA:501
HP:0011146	Dialeptic seizure	7957	EPM2A	ORPHA:501
HP:0011146	Dialeptic seizure	526	ATP6V1B2	ORPHA:79500
HP:0011146	Dialeptic seizure	57465	TBC1D24	ORPHA:79500
HP:0011146	Dialeptic seizure	11198	SUPT16H	OMIM:619480
HP:0011146	Dialeptic seizure	25814	ATXN10	ORPHA:98761
HP:0011146	Dialeptic seizure	5138	PDE2A	ORPHA:31709
HP:0011146	Dialeptic seizure	57169	ZNFX1	OMIM:619644
HP:0011146	Dialeptic seizure	9896	FIG4	OMIM:612691
HP:0011146	Dialeptic seizure	9896	FIG4	ORPHA:208441
HP:0011146	Dialeptic seizure	773	CACNA1A	OMIM:617106
HP:0011146	Dialeptic seizure	163175	LGI4	OMIM:617468
HP:0011146	Dialeptic seizure	3708	ITPR1	OMIM:117360
HP:0011146	Dialeptic seizure	23031	MAST3	OMIM:620115
HP:0011146	Dialeptic seizure	9568	GABBR2	OMIM:617904
HP:0011146	Dialeptic seizure	2556	GABRA3	OMIM:301091
HP:0011146	Dialeptic seizure	57020	VPS35L	OMIM:619135
HP:0011146	Dialeptic seizure	26047	CNTNAP2	OMIM:610042
HP:0011146	Dialeptic seizure	23499	MACF1	OMIM:618325
HP:0011146	Dialeptic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0011146	Dialeptic seizure	7248	TSC1	OMIM:607341
HP:0011146	Dialeptic seizure	7249	TSC2	OMIM:607341
HP:0011146	Dialeptic seizure	2475	MTOR	OMIM:607341
HP:0011146	Dialeptic seizure	197322	ACSF3	ORPHA:289504
HP:0011146	Dialeptic seizure	7040	TGFB1	OMIM:618213
HP:0011146	Dialeptic seizure	2902	GRIN1	OMIM:614254
HP:0011146	Dialeptic seizure	221927	BRAT1	OMIM:618056
HP:0011146	Dialeptic seizure	81603	TRIM8	OMIM:619428
HP:0011146	Dialeptic seizure	10695	CNPY3	OMIM:617929
HP:0011146	Dialeptic seizure	57094	CPA6	OMIM:614417
HP:0011146	Dialeptic seizure	57094	CPA6	OMIM:614418
HP:0011146	Dialeptic seizure	50640	PNPLA8	OMIM:251950
HP:0011146	Dialeptic seizure	8085	KMT2D	OMIM:147920
HP:0011146	Dialeptic seizure	7403	KDM6A	OMIM:147920
HP:0011146	Dialeptic seizure	7187	TRAF3	ORPHA:1930
HP:0011146	Dialeptic seizure	81622	UNC93B1	ORPHA:1930
HP:0011146	Dialeptic seizure	148022	TICAM1	ORPHA:1930
HP:0011146	Dialeptic seizure	7098	TLR3	ORPHA:1930
HP:0011146	Dialeptic seizure	29110	TBK1	ORPHA:1930
HP:0011146	Dialeptic seizure	7337	UBE3A	ORPHA:98795
HP:0011146	Dialeptic seizure	3192	HNRNPU	OMIM:617391
HP:0011146	Dialeptic seizure	2562	GABRB3	OMIM:617113
HP:0011146	Dialeptic seizure	2562	GABRB3	ORPHA:2382
HP:0011146	Dialeptic seizure	343450	KCNT2	OMIM:617771
HP:0011146	Dialeptic seizure	5530	PPP3CA	OMIM:617711
HP:0011146	Dialeptic seizure	23334	SZT2	OMIM:615476
HP:0011146	Dialeptic seizure	785	CACNB4	OMIM:613855
HP:0011146	Dialeptic seizure	785	CACNB4	OMIM:607682
HP:0011146	Dialeptic seizure	81570	CLPB	OMIM:619835
HP:0011146	Dialeptic seizure	27286	SRPX2	ORPHA:1945
HP:0011146	Dialeptic seizure	9839	ZEB2	ORPHA:261537
HP:0011146	Dialeptic seizure	9839	ZEB2	ORPHA:261552
HP:0011146	Dialeptic seizure	3778	KCNMA1	OMIM:618596
HP:0011146	Dialeptic seizure	5602	MAPK10	ORPHA:2382
HP:0011146	Dialeptic seizure	23316	CUX2	ORPHA:2382
HP:0011146	Dialeptic seizure	1106	CHD2	ORPHA:2382
HP:0011146	Dialeptic seizure	23314	SATB2	ORPHA:576283
HP:0011146	Dialeptic seizure	3190	HNRNPK	ORPHA:453504
HP:0011146	Dialeptic seizure	3190	HNRNPK	ORPHA:352665
HP:0011146	Dialeptic seizure	7840	ALMS1	ORPHA:64
HP:0011146	Dialeptic seizure	427	ASAH1	ORPHA:2590
HP:0011146	Dialeptic seizure	8912	CACNA1H	ORPHA:64280
HP:0011146	Dialeptic seizure	1281	COL3A1	OMIM:618343
HP:0011146	Dialeptic seizure	1859	DYRK1A	ORPHA:268261
HP:0011146	Dialeptic seizure	54496	PRMT7	OMIM:617157
HP:0011146	Dialeptic seizure	23394	ADNP	OMIM:615873
HP:0011146	Dialeptic seizure	23219	FBXO28	OMIM:619777
HP:0011146	Dialeptic seizure	51322	WAC	ORPHA:466950
HP:0011146	Dialeptic seizure	1917	EEF1A2	OMIM:616409
HP:0011146	Dialeptic seizure	51343	FZR1	OMIM:620145
HP:0011146	Dialeptic seizure	9289	ADGRG1	ORPHA:101070
HP:0011146	Dialeptic seizure	5728	PTEN	ORPHA:101070
HP:0011146	Dialeptic seizure	79947	DHDDS	OMIM:617836
HP:0011146	Dialeptic seizure	23067	SETD1B	OMIM:619000
HP:0011146	Dialeptic seizure	8659	ALDH4A1	ORPHA:79101
HP:0011146	Dialeptic seizure	8813	DPM1	ORPHA:79322
HP:0011146	Dialeptic seizure	501	ALDH7A1	ORPHA:3006
HP:0011146	Dialeptic seizure	11212	PLPBP	ORPHA:3006
HP:0011146	Dialeptic seizure	781	CACNA2D1	OMIM:620149
HP:0011146	Dialeptic seizure	10319	LAMC3	OMIM:614115
HP:0011147	Typical absence seizure	23314	SATB2	ORPHA:576283
HP:0011147	Typical absence seizure	3190	HNRNPK	ORPHA:453504
HP:0011147	Typical absence seizure	3190	HNRNPK	ORPHA:352665
HP:0011147	Typical absence seizure	7840	ALMS1	ORPHA:64
HP:0011147	Typical absence seizure	427	ASAH1	ORPHA:2590
HP:0011147	Typical absence seizure	6513	SLC2A1	ORPHA:64280
HP:0011147	Typical absence seizure	2562	GABRB3	ORPHA:64280
HP:0011147	Typical absence seizure	2554	GABRA1	ORPHA:64280
HP:0011147	Typical absence seizure	8912	CACNA1H	ORPHA:64280
HP:0011147	Typical absence seizure	8629	JRK	ORPHA:64280
HP:0011147	Typical absence seizure	2566	GABRG2	ORPHA:64280
HP:0011147	Typical absence seizure	2566	GABRG2	OMIM:618396
HP:0011147	Typical absence seizure	1281	COL3A1	OMIM:618343
HP:0011147	Typical absence seizure	1859	DYRK1A	ORPHA:268261
HP:0011147	Typical absence seizure	54496	PRMT7	OMIM:617157
HP:0011147	Typical absence seizure	23394	ADNP	OMIM:615873
HP:0011147	Typical absence seizure	23219	FBXO28	OMIM:619777
HP:0011147	Typical absence seizure	785	CACNB4	OMIM:613855
HP:0011147	Typical absence seizure	785	CACNB4	OMIM:607682
HP:0011147	Typical absence seizure	23732	FRRS1L	ORPHA:725
HP:0011147	Typical absence seizure	2903	GRIN2A	ORPHA:725
HP:0011147	Typical absence seizure	51322	WAC	ORPHA:466950
HP:0011147	Typical absence seizure	1917	EEF1A2	OMIM:616409
HP:0011147	Typical absence seizure	51343	FZR1	OMIM:620145
HP:0011147	Typical absence seizure	2902	GRIN1	ORPHA:208447
HP:0011147	Typical absence seizure	9289	ADGRG1	ORPHA:101070
HP:0011147	Typical absence seizure	5728	PTEN	ORPHA:101070
HP:0011147	Typical absence seizure	8659	ALDH4A1	ORPHA:79101
HP:0011147	Typical absence seizure	8813	DPM1	ORPHA:79322
HP:0011147	Typical absence seizure	501	ALDH7A1	ORPHA:3006
HP:0011147	Typical absence seizure	11212	PLPBP	ORPHA:3006
HP:0011149	Absence seizure with eyelid myoclonia	1173	AP2M1	OMIM:618587
HP:0011149	Absence seizure with eyelid myoclonia	1719	DHFR	OMIM:613839
HP:0031565	Abdominal situs ambiguus	54919	DNAAF5	OMIM:614874
HP:0031565	Abdominal situs ambiguus	100128908	CIROP	OMIM:619702
HP:0031565	Abdominal situs ambiguus	83538	ODAD4	OMIM:617092
HP:0031565	Abdominal situs ambiguus	4838	NODAL	OMIM:270100
HP:0031565	Abdominal situs ambiguus	2657	GDF1	OMIM:208530
HP:0031566	Abnormal pulmonary valve cusp morphology	7046	TGFBR1	OMIM:609192
HP:0031566	Abnormal pulmonary valve cusp morphology	7048	TGFBR2	OMIM:610168
HP:0031566	Abnormal pulmonary valve cusp morphology	145173	B3GLCT	ORPHA:709
HP:0031566	Abnormal pulmonary valve cusp morphology	1616	DAXX	ORPHA:100075
HP:0031566	Abnormal pulmonary valve cusp morphology	546	ATRX	ORPHA:100075
HP:0031567	Abnormal aortic valve cusp morphology	22827	PUF60	ORPHA:508498
HP:0031567	Abnormal aortic valve cusp morphology	10128	LRPPRC	OMIM:220111
HP:0031567	Abnormal aortic valve cusp morphology	2294	FOXF1	OMIM:265380
HP:0031567	Abnormal aortic valve cusp morphology	2294	FOXF1	ORPHA:210122
HP:0031567	Abnormal aortic valve cusp morphology	151648	SGO1	OMIM:616201
HP:0031567	Abnormal aortic valve cusp morphology	8473	OGT	OMIM:300997
HP:0031567	Abnormal aortic valve cusp morphology	6873	TAF2	OMIM:615599
HP:0031567	Abnormal aortic valve cusp morphology	6873	TAF2	ORPHA:397951
HP:0031567	Abnormal aortic valve cusp morphology	6885	MAP3K7	OMIM:617137
HP:0031567	Abnormal aortic valve cusp morphology	4091	SMAD6	OMIM:614823
HP:0031567	Abnormal aortic valve cusp morphology	4091	SMAD6	ORPHA:402075
HP:0031567	Abnormal aortic valve cusp morphology	2316	FLNA	OMIM:314400
HP:0031567	Abnormal aortic valve cusp morphology	2316	FLNA	OMIM:300049
HP:0031567	Abnormal aortic valve cusp morphology	2316	FLNA	ORPHA:555877
HP:0031567	Abnormal aortic valve cusp morphology	6650	CAPN15	OMIM:619318
HP:0031567	Abnormal aortic valve cusp morphology	3190	HNRNPK	ORPHA:453504
HP:0031567	Abnormal aortic valve cusp morphology	3190	HNRNPK	ORPHA:352665
HP:0031567	Abnormal aortic valve cusp morphology	10743	RAI1	ORPHA:477817
HP:0031567	Abnormal aortic valve cusp morphology	1387	CREBBP	ORPHA:353281
HP:0031567	Abnormal aortic valve cusp morphology	1387	CREBBP	ORPHA:353277
HP:0031567	Abnormal aortic valve cusp morphology	4854	NOTCH3	OMIM:130720
HP:0031567	Abnormal aortic valve cusp morphology	3020	H3-3A	OMIM:619720
HP:0031567	Abnormal aortic valve cusp morphology	3021	H3-3B	OMIM:619721
HP:0031567	Abnormal aortic valve cusp morphology	55784	MCTP2	ORPHA:1596
HP:0031567	Abnormal aortic valve cusp morphology	55690	PACS1	OMIM:615009
HP:0031567	Abnormal aortic valve cusp morphology	55690	PACS1	ORPHA:329224
HP:0031567	Abnormal aortic valve cusp morphology	2201	FBN2	OMIM:121050
HP:0031567	Abnormal aortic valve cusp morphology	2033	EP300	ORPHA:353284
HP:0031567	Abnormal aortic valve cusp morphology	9126	SMC3	OMIM:610759
HP:0031567	Abnormal aortic valve cusp morphology	55249	YY1AP1	OMIM:602531
HP:0031567	Abnormal aortic valve cusp morphology	51816	ADA2	OMIM:182410
HP:0031567	Abnormal aortic valve cusp morphology	284058	KANSL1	ORPHA:363958
HP:0031567	Abnormal aortic valve cusp morphology	284058	KANSL1	ORPHA:363965
HP:0031567	Abnormal aortic valve cusp morphology	284058	KANSL1	OMIM:610443
HP:0031567	Abnormal aortic valve cusp morphology	2200	FBN1	OMIM:154700
HP:0031567	Abnormal aortic valve cusp morphology	2200	FBN1	OMIM:184900
HP:0031567	Abnormal aortic valve cusp morphology	2200	FBN1	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	8260	NAA10	OMIM:300855
HP:0031567	Abnormal aortic valve cusp morphology	8260	NAA10	OMIM:309800
HP:0031567	Abnormal aortic valve cusp morphology	64359	NXN	OMIM:618529
HP:0031567	Abnormal aortic valve cusp morphology	4629	MYH11	OMIM:132900
HP:0031567	Abnormal aortic valve cusp morphology	4629	MYH11	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	55764	IFT122	OMIM:218330
HP:0031567	Abnormal aortic valve cusp morphology	4313	MMP2	ORPHA:371428
HP:0031567	Abnormal aortic valve cusp morphology	4323	MMP14	ORPHA:371428
HP:0031567	Abnormal aortic valve cusp morphology	9839	ZEB2	ORPHA:261552
HP:0031567	Abnormal aortic valve cusp morphology	9839	ZEB2	ORPHA:261537
HP:0031567	Abnormal aortic valve cusp morphology	4015	LOX	OMIM:617168
HP:0031567	Abnormal aortic valve cusp morphology	4015	LOX	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	54538	ROBO4	OMIM:618496
HP:0031567	Abnormal aortic valve cusp morphology	60	ACTB	OMIM:243310
HP:0031567	Abnormal aortic valve cusp morphology	7490	WT1	OMIM:608978
HP:0031567	Abnormal aortic valve cusp morphology	8493	PPM1D	OMIM:617450
HP:0031567	Abnormal aortic valve cusp morphology	54880	BCOR	OMIM:309800
HP:0031567	Abnormal aortic valve cusp morphology	5977	DPF2	OMIM:618027
HP:0031567	Abnormal aortic valve cusp morphology	23118	TAB2	OMIM:614980
HP:0031567	Abnormal aortic valve cusp morphology	6711	SPTBN1	OMIM:619475
HP:0031567	Abnormal aortic valve cusp morphology	92002	CCNQ	OMIM:300707
HP:0031567	Abnormal aortic valve cusp morphology	29957	SLC25A24	OMIM:612289
HP:0031567	Abnormal aortic valve cusp morphology	1909	EDNRA	OMIM:616367
HP:0031567	Abnormal aortic valve cusp morphology	57514	ARHGAP31	OMIM:100300
HP:0031567	Abnormal aortic valve cusp morphology	6154	RPL26	OMIM:614900
HP:0031567	Abnormal aortic valve cusp morphology	6804	STX1A	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	7461	CLIP2	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	84277	DNAJC30	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	8468	FKBP6	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	5982	RFC2	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	2969	GTF2I	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	3984	LIMK1	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	9569	GTF2IRD1	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	155382	VPS37D	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	155368	METTL27	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	114049	BUD23	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	7458	EIF4H	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	84163	GTF2IRD2	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	9275	BCL7B	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	26608	TBL2	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	653361	NCF1	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	135886	TMEM270	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	51085	MLXIPL	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	51085	MLXIPL	OMIM:194050
HP:0031567	Abnormal aortic valve cusp morphology	9031	BAZ1B	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	2006	ELN	ORPHA:904
HP:0031567	Abnormal aortic valve cusp morphology	2006	ELN	OMIM:194050
HP:0031567	Abnormal aortic valve cusp morphology	2006	ELN	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	79753	SNIP1	OMIM:614501
HP:0031567	Abnormal aortic valve cusp morphology	171019	ADAMTS19	OMIM:620067
HP:0031567	Abnormal aortic valve cusp morphology	83475	DOHH	OMIM:620066
HP:0031567	Abnormal aortic valve cusp morphology	10060	ABCC9	OMIM:239850
HP:0031567	Abnormal aortic valve cusp morphology	54828	BCAS3	OMIM:619641
HP:0031567	Abnormal aortic valve cusp morphology	2222	FDFT1	OMIM:618156
HP:0031567	Abnormal aortic valve cusp morphology	4780	NFE2L2	OMIM:617744
HP:0031567	Abnormal aortic valve cusp morphology	2627	GATA6	OMIM:614475
HP:0031567	Abnormal aortic valve cusp morphology	4625	MYH7	OMIM:613426
HP:0031567	Abnormal aortic valve cusp morphology	9371	KIF3B	OMIM:618955
HP:0031567	Abnormal aortic valve cusp morphology	4851	NOTCH1	ORPHA:402075
HP:0031567	Abnormal aortic valve cusp morphology	4851	NOTCH1	OMIM:109730
HP:0031567	Abnormal aortic valve cusp morphology	1482	NKX2-5	ORPHA:402075
HP:0031567	Abnormal aortic valve cusp morphology	140628	GATA5	ORPHA:402075
HP:0031567	Abnormal aortic valve cusp morphology	140628	GATA5	OMIM:617912
HP:0031567	Abnormal aortic valve cusp morphology	93649	MYOCD	OMIM:618719
HP:0031567	Abnormal aortic valve cusp morphology	126792	B3GALT6	OMIM:271640
HP:0031567	Abnormal aortic valve cusp morphology	51322	WAC	ORPHA:284169
HP:0031567	Abnormal aortic valve cusp morphology	5879	RAC1	OMIM:617751
HP:0031567	Abnormal aortic valve cusp morphology	5879	RAC1	ORPHA:500159
HP:0031567	Abnormal aortic valve cusp morphology	5528	PPP2R5D	ORPHA:457279
HP:0031567	Abnormal aortic valve cusp morphology	4088	SMAD3	OMIM:613795
HP:0031567	Abnormal aortic valve cusp morphology	4088	SMAD3	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	7048	TGFBR2	OMIM:610168
HP:0031567	Abnormal aortic valve cusp morphology	7048	TGFBR2	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	55191	NADSYN1	OMIM:618845
HP:0031567	Abnormal aortic valve cusp morphology	9469	CHST3	OMIM:245600
HP:0031567	Abnormal aortic valve cusp morphology	26229	B3GAT3	OMIM:245600
HP:0031567	Abnormal aortic valve cusp morphology	27161	AGO2	OMIM:619149
HP:0031567	Abnormal aortic valve cusp morphology	583	BBS2	OMIM:615981
HP:0031567	Abnormal aortic valve cusp morphology	2702	GJA5	OMIM:612474
HP:0031567	Abnormal aortic valve cusp morphology	2703	GJA8	OMIM:612474
HP:0031567	Abnormal aortic valve cusp morphology	867	CBL	OMIM:613563
HP:0031567	Abnormal aortic valve cusp morphology	79875	THSD4	OMIM:619825
HP:0031567	Abnormal aortic valve cusp morphology	9652	SKIC3	ORPHA:84064
HP:0031567	Abnormal aortic valve cusp morphology	6499	SKIC2	ORPHA:84064
HP:0031567	Abnormal aortic valve cusp morphology	6736	SRY	ORPHA:1772
HP:0031567	Abnormal aortic valve cusp morphology	7046	TGFBR1	OMIM:609192
HP:0031567	Abnormal aortic valve cusp morphology	7046	TGFBR1	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	7042	TGFB2	OMIM:614816
HP:0031567	Abnormal aortic valve cusp morphology	7042	TGFB2	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	4087	SMAD2	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	7043	TGFB3	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	4089	SMAD4	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	59	ACTA2	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	5592	PRKG1	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	2301	FOXE3	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	4144	MAT2A	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	23493	HEY2	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	8076	MFAP5	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	4638	MYLK	ORPHA:91387
HP:0031567	Abnormal aortic valve cusp morphology	58499	ZNF462	OMIM:618619
HP:0031567	Abnormal aortic valve cusp morphology	153642	ARSK	OMIM:619698
HP:0031567	Abnormal aortic valve cusp morphology	7148	TNXB	OMIM:606408
HP:0001065	Striae distensae	4088	SMAD3	ORPHA:284984
HP:0001065	Striae distensae	4088	SMAD3	OMIM:613795
HP:0001065	Striae distensae	8450	CUL4B	OMIM:300354
HP:0001065	Striae distensae	84196	USP48	ORPHA:96253
HP:0001065	Striae distensae	7157	TP53	ORPHA:96253
HP:0001065	Striae distensae	7157	TP53	ORPHA:1501
HP:0001065	Striae distensae	9101	USP8	ORPHA:96253
HP:0001065	Striae distensae	9101	USP8	OMIM:219090
HP:0001065	Striae distensae	64072	CDH23	ORPHA:96253
HP:0001065	Striae distensae	2908	NR3C1	ORPHA:96253
HP:0001065	Striae distensae	673	BRAF	ORPHA:96253
HP:0001065	Striae distensae	546	ATRX	ORPHA:96253
HP:0001065	Striae distensae	23013	SPEN	OMIM:619312
HP:0001065	Striae distensae	2200	FBN1	OMIM:154700
HP:0001065	Striae distensae	2200	FBN1	OMIM:608328
HP:0001065	Striae distensae	2200	FBN1	OMIM:604308
HP:0001065	Striae distensae	1315	COPB1	OMIM:619255
HP:0001065	Striae distensae	5566	PRKACA	ORPHA:189439
HP:0001065	Striae distensae	8622	PDE8B	ORPHA:189439
HP:0001065	Striae distensae	5573	PRKAR1A	ORPHA:189439
HP:0001065	Striae distensae	5573	PRKAR1A	OMIM:610489
HP:0001065	Striae distensae	5573	PRKAR1A	ORPHA:1501
HP:0001065	Striae distensae	5573	PRKAR1A	ORPHA:1359
HP:0001065	Striae distensae	50940	PDE11A	ORPHA:189439
HP:0001065	Striae distensae	50940	PDE11A	OMIM:610475
HP:0001065	Striae distensae	50940	PDE11A	ORPHA:1359
HP:0001065	Striae distensae	4087	SMAD2	OMIM:619656
HP:0001065	Striae distensae	2778	GNAS	OMIM:219080
HP:0001065	Striae distensae	2778	GNAS	ORPHA:189427
HP:0001065	Striae distensae	7048	TGFBR2	OMIM:610168
HP:0001065	Striae distensae	7048	TGFBR2	ORPHA:60030
HP:0001065	Striae distensae	84133	ZNRF3	ORPHA:1501
HP:0001065	Striae distensae	1499	CTNNB1	ORPHA:1501
HP:0001065	Striae distensae	1029	CDKN2A	ORPHA:1501
HP:0001065	Striae distensae	7015	TERT	ORPHA:1501
HP:0001065	Striae distensae	1277	COL1A1	ORPHA:287
HP:0001065	Striae distensae	1289	COL5A1	ORPHA:287
HP:0001065	Striae distensae	1289	COL5A1	OMIM:619329
HP:0001065	Striae distensae	1290	COL5A2	ORPHA:287
HP:0001065	Striae distensae	7148	TNXB	OMIM:606408
HP:0001065	Striae distensae	633	BGN	OMIM:300989
HP:0001065	Striae distensae	4015	LOX	OMIM:617168
HP:0001065	Striae distensae	1742	DLG4	OMIM:618793
HP:0001065	Striae distensae	7046	TGFBR1	ORPHA:60030
HP:0001065	Striae distensae	10526	IPO8	ORPHA:60030
HP:0001065	Striae distensae	79798	ARMC5	ORPHA:189427
HP:0001065	Striae distensae	9049	AIP	OMIM:219090
HP:0001065	Striae distensae	5167	ENPP1	ORPHA:758
HP:0001065	Striae distensae	368	ABCC6	ORPHA:758
HP:0001065	Striae distensae	7042	TGFB2	OMIM:614816
HP:0100682	Tracheal atresia	23426	GRIP1	OMIM:617667
HP:0100682	Tracheal atresia	219844	HYLS1	ORPHA:2189
HP:0100682	Tracheal atresia	374654	KIF7	ORPHA:2189
HP:0100682	Tracheal atresia	4256	MGP	ORPHA:85202
HP:0100684	Salivary gland neoplasm	5324	PLAG1	OMIM:181030
HP:0100684	Salivary gland neoplasm	4292	MLH1	ORPHA:587
HP:0100684	Salivary gland neoplasm	2956	MSH6	ORPHA:587
HP:0100684	Salivary gland neoplasm	4436	MSH2	ORPHA:587
HP:0100685	Abnormal Sharpey fiber morphology	538	ATP7A	ORPHA:565
HP:0100685	Abnormal Sharpey fiber morphology	6557	SLC12A1	OMIM:601678
HP:0100685	Abnormal Sharpey fiber morphology	79577	CDC73	ORPHA:143
HP:0100685	Abnormal Sharpey fiber morphology	79577	CDC73	ORPHA:99880
HP:0100685	Abnormal Sharpey fiber morphology	79577	CDC73	ORPHA:99879
HP:0100685	Abnormal Sharpey fiber morphology	4854	NOTCH3	ORPHA:2591
HP:0100685	Abnormal Sharpey fiber morphology	5159	PDGFRB	ORPHA:2591
HP:0100685	Abnormal Sharpey fiber morphology	1175	AP2S1	OMIM:600740
HP:0100685	Abnormal Sharpey fiber morphology	486	FXYD2	OMIM:154020
HP:0100685	Abnormal Sharpey fiber morphology	3758	KCNJ1	OMIM:241200
HP:0100685	Abnormal Sharpey fiber morphology	4210	MEFV	ORPHA:329967
HP:0100685	Abnormal Sharpey fiber morphology	7132	TNFRSF1A	ORPHA:329967
HP:0100685	Abnormal Sharpey fiber morphology	249	ALPL	OMIM:146300
HP:0100685	Abnormal Sharpey fiber morphology	2767	GNA11	OMIM:145981
HP:0100685	Abnormal Sharpey fiber morphology	6559	SLC12A3	OMIM:263800
HP:0100685	Abnormal Sharpey fiber morphology	6559	SLC12A3	ORPHA:358
HP:0100685	Abnormal Sharpey fiber morphology	4221	MEN1	ORPHA:99879
HP:0100685	Abnormal Sharpey fiber morphology	9247	GCM2	ORPHA:99879
HP:0100685	Abnormal Sharpey fiber morphology	4000	LMNA	ORPHA:79474
HP:0100685	Abnormal Sharpey fiber morphology	540	ATP7B	OMIM:277900
HP:0100685	Abnormal Sharpey fiber morphology	7486	WRN	ORPHA:902
HP:0100685	Abnormal Sharpey fiber morphology	1188	CLCNKB	ORPHA:358
HP:0100685	Abnormal Sharpey fiber morphology	4982	TNFRSF11B	ORPHA:1416
HP:0100685	Abnormal Sharpey fiber morphology	3373	HYAL1	OMIM:601492
HP:0100685	Abnormal Sharpey fiber morphology	56172	ANKH	OMIM:118600
HP:0100685	Abnormal Sharpey fiber morphology	6775	STAT4	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	3560	IL2RB	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	79722	ANKRD55	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	26191	PTPN22	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	919	CD247	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	3559	IL2RA	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	5771	PTPN2	ORPHA:85408
HP:0100685	Abnormal Sharpey fiber morphology	3106	HLA-B	ORPHA:29207
HP:0100685	Abnormal Sharpey fiber morphology	3106	HLA-B	OMIM:106300
HP:0100685	Abnormal Sharpey fiber morphology	5251	PHEX	ORPHA:89936
HP:0100685	Abnormal Sharpey fiber morphology	1758	DMP1	ORPHA:289176
HP:0100685	Abnormal Sharpey fiber morphology	5167	ENPP1	ORPHA:289176
HP:0100686	Enthesitis	6775	STAT4	ORPHA:85408
HP:0100686	Enthesitis	3560	IL2RB	ORPHA:85408
HP:0100686	Enthesitis	79722	ANKRD55	ORPHA:85408
HP:0100686	Enthesitis	26191	PTPN22	ORPHA:85408
HP:0100686	Enthesitis	919	CD247	ORPHA:85408
HP:0100686	Enthesitis	3559	IL2RA	ORPHA:85408
HP:0100686	Enthesitis	5771	PTPN2	ORPHA:85408
HP:0100686	Enthesitis	3106	HLA-B	ORPHA:29207
HP:0100686	Enthesitis	3106	HLA-B	OMIM:106300
HP:0100686	Enthesitis	5251	PHEX	ORPHA:89936
HP:0100686	Enthesitis	1758	DMP1	ORPHA:289176
HP:0100686	Enthesitis	5167	ENPP1	ORPHA:289176
HP:0000482	Microcornea	5309	PITX3	OMIM:107250
HP:0000482	Microcornea	2074	ERCC6	OMIM:133540
HP:0000482	Microcornea	2074	ERCC6	ORPHA:90324
HP:0000482	Microcornea	1409	CRYAA	OMIM:604219
HP:0000482	Microcornea	1409	CRYAA	ORPHA:1377
HP:0000482	Microcornea	6309	SC5D	ORPHA:46059
HP:0000482	Microcornea	5351	PLOD1	OMIM:225400
HP:0000482	Microcornea	5351	PLOD1	ORPHA:1900
HP:0000482	Microcornea	1161	ERCC8	ORPHA:90324
HP:0000482	Microcornea	5080	PAX6	ORPHA:2334
HP:0000482	Microcornea	5080	PAX6	OMIM:604229
HP:0000482	Microcornea	81857	MED25	OMIM:616449
HP:0000482	Microcornea	81857	MED25	ORPHA:464738
HP:0000482	Microcornea	406960	MIR184	OMIM:614303
HP:0000482	Microcornea	145173	B3GLCT	ORPHA:709
HP:0000482	Microcornea	10586	MAB21L2	OMIM:615877
HP:0000482	Microcornea	4693	NDP	ORPHA:91495
HP:0000482	Microcornea	220202	ATOH7	ORPHA:91495
HP:0000482	Microcornea	220202	ATOH7	OMIM:221900
HP:0000482	Microcornea	8322	FZD4	ORPHA:91495
HP:0000482	Microcornea	7473	WNT3	ORPHA:3301
HP:0000482	Microcornea	340419	RSPO2	ORPHA:3301
HP:0000482	Microcornea	9839	ZEB2	OMIM:235730
HP:0000482	Microcornea	9839	ZEB2	ORPHA:261552
HP:0000482	Microcornea	9401	RECQL4	OMIM:268400
HP:0000482	Microcornea	4010	LMX1B	OMIM:161200
HP:0000482	Microcornea	10733	PLK4	OMIM:616171
HP:0000482	Microcornea	9150	CTDP1	OMIM:604168
HP:0000482	Microcornea	9150	CTDP1	ORPHA:48431
HP:0000482	Microcornea	89910	UBE3B	OMIM:244450
HP:0000482	Microcornea	89910	UBE3B	ORPHA:2707
HP:0000482	Microcornea	8085	KMT2D	ORPHA:2322
HP:0000482	Microcornea	7403	KDM6A	ORPHA:2322
HP:0000482	Microcornea	3149	HMGB3	OMIM:300915
HP:0000482	Microcornea	387700	SLC16A12	OMIM:612018
HP:0000482	Microcornea	2314	FLII	ORPHA:819
HP:0000482	Microcornea	23096	IQSEC2	ORPHA:819
HP:0000482	Microcornea	10743	RAI1	ORPHA:819
HP:0000482	Microcornea	10522	DEAF1	ORPHA:819
HP:0000482	Microcornea	10982	MAPRE2	OMIM:616734
HP:0000482	Microcornea	10982	MAPRE2	ORPHA:2505
HP:0000482	Microcornea	55033	FKBP14	OMIM:614557
HP:0000482	Microcornea	55033	FKBP14	ORPHA:300179
HP:0000482	Microcornea	4286	MITF	OMIM:617306
HP:0000482	Microcornea	2187	FANCB	ORPHA:3412
HP:0000482	Microcornea	84892	POMGNT2	ORPHA:899
HP:0000482	Microcornea	148789	B3GALNT2	ORPHA:899
HP:0000482	Microcornea	79147	FKRP	ORPHA:899
HP:0000482	Microcornea	29954	POMT2	ORPHA:899
HP:0000482	Microcornea	9215	LARGE1	ORPHA:899
HP:0000482	Microcornea	1282	COL4A1	ORPHA:899
HP:0000482	Microcornea	1282	COL4A1	OMIM:175780
HP:0000482	Microcornea	729920	CRPPA	ORPHA:899
HP:0000482	Microcornea	10329	RXYLT1	ORPHA:899
HP:0000482	Microcornea	1605	DAG1	ORPHA:899
HP:0000482	Microcornea	11041	B4GAT1	ORPHA:899
HP:0000482	Microcornea	10585	POMT1	ORPHA:899
HP:0000482	Microcornea	84197	POMK	ORPHA:899
HP:0000482	Microcornea	2218	FKTN	ORPHA:899
HP:0000482	Microcornea	55624	POMGNT1	ORPHA:899
HP:0000482	Microcornea	4810	NHS	OMIM:302350
HP:0000482	Microcornea	4810	NHS	ORPHA:627
HP:0000482	Microcornea	22930	RAB3GAP1	OMIM:600118
HP:0000482	Microcornea	22930	RAB3GAP1	ORPHA:2510
HP:0000482	Microcornea	54880	BCOR	ORPHA:2712
HP:0000482	Microcornea	54880	BCOR	ORPHA:568
HP:0000482	Microcornea	54880	BCOR	OMIM:309800
HP:0000482	Microcornea	54880	BCOR	OMIM:300166
HP:0000482	Microcornea	5015	OTX2	OMIM:610125
HP:0000482	Microcornea	2248	FGF3	ORPHA:2791
HP:0000482	Microcornea	1063	CENPF	OMIM:243605
HP:0000482	Microcornea	5308	PITX2	OMIM:180500
HP:0000482	Microcornea	646960	PRSS56	OMIM:613517
HP:0000482	Microcornea	2697	GJA1	ORPHA:2710
HP:0000482	Microcornea	2697	GJA1	OMIM:164200
HP:0000482	Microcornea	2697	GJA1	OMIM:257850
HP:0000482	Microcornea	8260	NAA10	ORPHA:568
HP:0000482	Microcornea	8260	NAA10	OMIM:309800
HP:0000482	Microcornea	1420	CRYGC	OMIM:604307
HP:0000482	Microcornea	1420	CRYGC	ORPHA:1377
HP:0000482	Microcornea	84314	TMEM107	ORPHA:564
HP:0000482	Microcornea	26123	TCTN3	ORPHA:564
HP:0000482	Microcornea	79867	TCTN2	ORPHA:564
HP:0000482	Microcornea	80776	B9D2	ORPHA:564
HP:0000482	Microcornea	79600	TCTN1	ORPHA:564
HP:0000482	Microcornea	57096	RPGRIP1	ORPHA:564
HP:0000482	Microcornea	79848	CSPP1	ORPHA:564
HP:0000482	Microcornea	80184	CEP290	ORPHA:564
HP:0000482	Microcornea	51259	TMEM216	ORPHA:564
HP:0000482	Microcornea	57545	CC2D2A	ORPHA:564
HP:0000482	Microcornea	79583	TMEM231	ORPHA:564
HP:0000482	Microcornea	91147	TMEM67	ORPHA:564
HP:0000482	Microcornea	79770	TXNDC15	ORPHA:564
HP:0000482	Microcornea	27077	B9D1	ORPHA:564
HP:0000482	Microcornea	23322	RPGRIP1L	ORPHA:564
HP:0000482	Microcornea	54903	MKS1	ORPHA:564
HP:0000482	Microcornea	65062	TMEM237	ORPHA:564
HP:0000482	Microcornea	2068	ERCC2	OMIM:601675
HP:0000482	Microcornea	2068	ERCC2	ORPHA:33364
HP:0000482	Microcornea	652	BMP4	OMIM:607932
HP:0000482	Microcornea	652	BMP4	ORPHA:139471
HP:0000482	Microcornea	55714	TENM3	OMIM:615145
HP:0000482	Microcornea	10682	EBP	ORPHA:35173
HP:0000482	Microcornea	128637	TBC1D20	OMIM:615663
HP:0000482	Microcornea	128637	TBC1D20	ORPHA:2510
HP:0000482	Microcornea	5950	RBP4	OMIM:615147
HP:0000482	Microcornea	7020	TFAP2A	ORPHA:1297
HP:0000482	Microcornea	2301	FOXE3	OMIM:610256
HP:0000482	Microcornea	57167	SALL4	ORPHA:959
HP:0000482	Microcornea	57167	SALL4	ORPHA:233
HP:0000482	Microcornea	2313	FLI1	ORPHA:2308
HP:0000482	Microcornea	79718	TBL1XR1	ORPHA:487825
HP:0000482	Microcornea	79718	TBL1XR1	OMIM:602342
HP:0000482	Microcornea	668	FOXL2	OMIM:110100
HP:0000482	Microcornea	9935	MAFB	ORPHA:233
HP:0000482	Microcornea	1123	CHN1	ORPHA:233
HP:0000482	Microcornea	23476	BRD4	ORPHA:199
HP:0000482	Microcornea	9126	SMC3	ORPHA:199
HP:0000482	Microcornea	8243	SMC1A	ORPHA:199
HP:0000482	Microcornea	25836	NIPBL	ORPHA:199
HP:0000482	Microcornea	25836	NIPBL	OMIM:122470
HP:0000482	Microcornea	55869	HDAC8	ORPHA:199
HP:0000482	Microcornea	5885	RAD21	ORPHA:199
HP:0000482	Microcornea	2703	GJA8	OMIM:116200
HP:0000482	Microcornea	2703	GJA8	ORPHA:1377
HP:0000482	Microcornea	10664	CTCF	ORPHA:363611
HP:0000482	Microcornea	25782	RAB3GAP2	OMIM:614225
HP:0000482	Microcornea	25782	RAB3GAP2	ORPHA:2510
HP:0000482	Microcornea	22931	RAB18	OMIM:614222
HP:0000482	Microcornea	22931	RAB18	ORPHA:2510
HP:0000482	Microcornea	286	ANK1	ORPHA:251066
HP:0000482	Microcornea	113189	CHST14	OMIM:601776
HP:0000482	Microcornea	136647	MPLKIP	OMIM:234050
HP:0000482	Microcornea	136647	MPLKIP	ORPHA:33364
HP:0000482	Microcornea	402	ARL2	OMIM:619082
HP:0000482	Microcornea	203068	TUBB	OMIM:156610
HP:0000482	Microcornea	203068	TUBB	ORPHA:2505
HP:0000482	Microcornea	51715	RAB23	OMIM:201000
HP:0000482	Microcornea	1806	DPYD	ORPHA:1675
HP:0000482	Microcornea	182	JAG1	OMIM:118450
HP:0000482	Microcornea	7837	PXDN	OMIM:269400
HP:0000482	Microcornea	126792	B3GALT6	ORPHA:536467
HP:0000482	Microcornea	57479	PRR12	OMIM:619539
HP:0000482	Microcornea	92344	GORAB	ORPHA:2078
HP:0000482	Microcornea	5831	PYCR1	ORPHA:2078
HP:0000482	Microcornea	170692	ADAMTS18	OMIM:615458
HP:0000482	Microcornea	4094	MAF	OMIM:610202
HP:0000482	Microcornea	4094	MAF	ORPHA:1377
HP:0000482	Microcornea	2961	GTF2E2	OMIM:616943
HP:0000482	Microcornea	2961	GTF2E2	ORPHA:33364
HP:0000482	Microcornea	404672	GTF2H5	ORPHA:33364
HP:0000482	Microcornea	833	CARS1	ORPHA:33364
HP:0000482	Microcornea	7737	RNF113A	ORPHA:33364
HP:0000482	Microcornea	6897	TARS1	ORPHA:33364
HP:0000482	Microcornea	2071	ERCC3	ORPHA:33364
HP:0000482	Microcornea	3339	HSPG2	OMIM:255800
HP:0000482	Microcornea	3339	HSPG2	ORPHA:800
HP:0000482	Microcornea	3166	HMX1	OMIM:612109
HP:0000482	Microcornea	71	ACTG1	ORPHA:2995
HP:0000482	Microcornea	60	ACTB	ORPHA:2995
HP:0000482	Microcornea	50945	TBX22	ORPHA:921
HP:0000482	Microcornea	3845	KRAS	OMIM:600268
HP:0000482	Microcornea	6913	TBX15	OMIM:260660
HP:0000482	Microcornea	3832	KIF11	OMIM:152950
HP:0000482	Microcornea	1413	CRYBA4	ORPHA:1377
HP:0000482	Microcornea	1415	CRYBB2	ORPHA:1377
HP:0000482	Microcornea	1414	CRYBB1	ORPHA:1377
HP:0000482	Microcornea	1414	CRYBB1	OMIM:611544
HP:0000482	Microcornea	1421	CRYGD	ORPHA:1377
HP:0000482	Microcornea	7439	BEST1	OMIM:193220
HP:0100689	Decreased corneal thickness	1281	COL3A1	OMIM:130050
HP:0100689	Decreased corneal thickness	1281	COL3A1	ORPHA:286
HP:0100689	Decreased corneal thickness	3769	KCNJ13	ORPHA:65
HP:0100689	Decreased corneal thickness	343035	RD3	ORPHA:65
HP:0100689	Decreased corneal thickness	145226	RDH12	ORPHA:65
HP:0100689	Decreased corneal thickness	145226	RDH12	ORPHA:791
HP:0100689	Decreased corneal thickness	1406	CRX	ORPHA:65
HP:0100689	Decreased corneal thickness	1406	CRX	ORPHA:791
HP:0100689	Decreased corneal thickness	1406	CRX	OMIM:613829
HP:0100689	Decreased corneal thickness	64802	NMNAT1	ORPHA:65
HP:0100689	Decreased corneal thickness	64802	NMNAT1	OMIM:608553
HP:0100689	Decreased corneal thickness	57096	RPGRIP1	ORPHA:65
HP:0100689	Decreased corneal thickness	57096	RPGRIP1	OMIM:613826
HP:0100689	Decreased corneal thickness	80184	CEP290	ORPHA:65
HP:0100689	Decreased corneal thickness	10383	TUBB4B	ORPHA:65
HP:0100689	Decreased corneal thickness	9742	IFT140	ORPHA:65
HP:0100689	Decreased corneal thickness	9742	IFT140	ORPHA:791
HP:0100689	Decreased corneal thickness	85015	USP45	ORPHA:65
HP:0100689	Decreased corneal thickness	6121	RPE65	ORPHA:65
HP:0100689	Decreased corneal thickness	6121	RPE65	ORPHA:791
HP:0100689	Decreased corneal thickness	6121	RPE65	OMIM:204100
HP:0100689	Decreased corneal thickness	23418	CRB1	ORPHA:65
HP:0100689	Decreased corneal thickness	23418	CRB1	ORPHA:791
HP:0100689	Decreased corneal thickness	23418	CRB1	OMIM:613835
HP:0100689	Decreased corneal thickness	5130	PCYT1A	ORPHA:65
HP:0100689	Decreased corneal thickness	9657	IQCB1	ORPHA:65
HP:0100689	Decreased corneal thickness	392255	GDF6	ORPHA:65
HP:0100689	Decreased corneal thickness	23746	AIPL1	ORPHA:65
HP:0100689	Decreased corneal thickness	23746	AIPL1	OMIM:604393
HP:0100689	Decreased corneal thickness	3000	GUCY2D	ORPHA:65
HP:0100689	Decreased corneal thickness	3000	GUCY2D	OMIM:204000
HP:0100689	Decreased corneal thickness	9227	LRAT	ORPHA:65
HP:0100689	Decreased corneal thickness	9227	LRAT	ORPHA:791
HP:0100689	Decreased corneal thickness	55812	SPATA7	ORPHA:65
HP:0100689	Decreased corneal thickness	55812	SPATA7	ORPHA:791
HP:0100689	Decreased corneal thickness	7287	TULP1	ORPHA:65
HP:0100689	Decreased corneal thickness	7287	TULP1	ORPHA:791
HP:0100689	Decreased corneal thickness	167691	LCA5	ORPHA:65
HP:0100689	Decreased corneal thickness	3614	IMPDH1	ORPHA:65
HP:0100689	Decreased corneal thickness	3614	IMPDH1	ORPHA:791
HP:0100689	Decreased corneal thickness	7025	NR2F1	ORPHA:401777
HP:0100689	Decreased corneal thickness	92840	REEP6	ORPHA:791
HP:0100689	Decreased corneal thickness	6094	ROM1	ORPHA:791
HP:0100689	Decreased corneal thickness	6017	RLBP1	ORPHA:791
HP:0100689	Decreased corneal thickness	7401	CLRN1	ORPHA:791
HP:0100689	Decreased corneal thickness	24	ABCA4	ORPHA:791
HP:0100689	Decreased corneal thickness	130557	ZNF513	ORPHA:791
HP:0100689	Decreased corneal thickness	582	BBS1	ORPHA:791
HP:0100689	Decreased corneal thickness	92211	CDHR1	ORPHA:791
HP:0100689	Decreased corneal thickness	23568	ARL2BP	ORPHA:791
HP:0100689	Decreased corneal thickness	54806	AHI1	ORPHA:791
HP:0100689	Decreased corneal thickness	6101	RP1	ORPHA:791
HP:0100689	Decreased corneal thickness	3419	IDH3A	ORPHA:791
HP:0100689	Decreased corneal thickness	4751	NEK2	ORPHA:791
HP:0100689	Decreased corneal thickness	346007	EYS	ORPHA:791
HP:0100689	Decreased corneal thickness	8100	IFT88	ORPHA:791
HP:0100689	Decreased corneal thickness	23020	SNRNP200	ORPHA:791
HP:0100689	Decreased corneal thickness	762	CA4	ORPHA:791
HP:0100689	Decreased corneal thickness	138050	HGSNAT	ORPHA:791
HP:0100689	Decreased corneal thickness	196	AHR	ORPHA:791
HP:0100689	Decreased corneal thickness	123016	TTC8	ORPHA:791
HP:0100689	Decreased corneal thickness	6103	RPGR	ORPHA:791
HP:0100689	Decreased corneal thickness	5148	PDE6G	ORPHA:791
HP:0100689	Decreased corneal thickness	26160	IFT172	ORPHA:791
HP:0100689	Decreased corneal thickness	26121	PRPF31	ORPHA:791
HP:0100689	Decreased corneal thickness	583	BBS2	ORPHA:791
HP:0100689	Decreased corneal thickness	4117	MAK	ORPHA:791
HP:0100689	Decreased corneal thickness	25794	FSCN2	ORPHA:791
HP:0100689	Decreased corneal thickness	375298	CERKL	ORPHA:791
HP:0100689	Decreased corneal thickness	3420	IDH3B	ORPHA:791
HP:0100689	Decreased corneal thickness	57670	KIAA1549	ORPHA:791
HP:0100689	Decreased corneal thickness	7275	TUB	ORPHA:791
HP:0100689	Decreased corneal thickness	24148	PRPF6	ORPHA:791
HP:0100689	Decreased corneal thickness	10461	MERTK	ORPHA:791
HP:0100689	Decreased corneal thickness	57709	SLC7A14	ORPHA:791
HP:0100689	Decreased corneal thickness	768206	PRCD	ORPHA:791
HP:0100689	Decreased corneal thickness	7399	USH2A	ORPHA:791
HP:0100689	Decreased corneal thickness	23370	ARHGEF18	ORPHA:791
HP:0100689	Decreased corneal thickness	5949	RBP3	ORPHA:791
HP:0100689	Decreased corneal thickness	6010	RHO	ORPHA:791
HP:0100689	Decreased corneal thickness	6100	RP9	ORPHA:791
HP:0100689	Decreased corneal thickness	10002	NR2E3	ORPHA:791
HP:0100689	Decreased corneal thickness	84140	FAM161A	ORPHA:791
HP:0100689	Decreased corneal thickness	55624	POMGNT1	ORPHA:791
HP:0100689	Decreased corneal thickness	79797	ZNF408	ORPHA:791
HP:0100689	Decreased corneal thickness	403	ARL3	ORPHA:791
HP:0100689	Decreased corneal thickness	5145	PDE6A	ORPHA:791
HP:0100689	Decreased corneal thickness	10210	TOPORS	ORPHA:791
HP:0100689	Decreased corneal thickness	8842	PROM1	ORPHA:791
HP:0100689	Decreased corneal thickness	9128	PRPF4	ORPHA:791
HP:0100689	Decreased corneal thickness	50939	IMPG2	ORPHA:791
HP:0100689	Decreased corneal thickness	8481	OFD1	ORPHA:791
HP:0100689	Decreased corneal thickness	49855	SCAPER	ORPHA:791
HP:0100689	Decreased corneal thickness	2979	GUCA1B	ORPHA:791
HP:0100689	Decreased corneal thickness	1259	CNGA1	ORPHA:791
HP:0100689	Decreased corneal thickness	1258	CNGB1	ORPHA:791
HP:0100689	Decreased corneal thickness	60509	AGBL5	ORPHA:791
HP:0100689	Decreased corneal thickness	5961	PRPH2	ORPHA:791
HP:0100689	Decreased corneal thickness	388939	PCARE	ORPHA:791
HP:0100689	Decreased corneal thickness	7439	BEST1	ORPHA:791
HP:0100689	Decreased corneal thickness	9785	DHX38	ORPHA:791
HP:0100689	Decreased corneal thickness	5995	RGR	ORPHA:791
HP:0100689	Decreased corneal thickness	9129	PRPF3	ORPHA:791
HP:0100689	Decreased corneal thickness	55975	KLHL7	ORPHA:791
HP:0100689	Decreased corneal thickness	3617	IMPG1	ORPHA:791
HP:0100689	Decreased corneal thickness	94137	RP1L1	ORPHA:791
HP:0100689	Decreased corneal thickness	5158	PDE6B	ORPHA:791
HP:0100689	Decreased corneal thickness	6102	RP2	ORPHA:791
HP:0100689	Decreased corneal thickness	55857	KIZ	ORPHA:791
HP:0100689	Decreased corneal thickness	64218	SEMA4A	ORPHA:791
HP:0100689	Decreased corneal thickness	4901	NRL	ORPHA:791
HP:0100689	Decreased corneal thickness	157657	CFAP418	ORPHA:791
HP:0100689	Decreased corneal thickness	10594	PRPF8	ORPHA:791
HP:0100689	Decreased corneal thickness	84100	ARL6	ORPHA:791
HP:0100689	Decreased corneal thickness	6295	SAG	ORPHA:791
HP:0100689	Decreased corneal thickness	79947	DHDDS	ORPHA:791
HP:0100689	Decreased corneal thickness	81031	SLC2A10	OMIM:208050
HP:0100689	Decreased corneal thickness	81031	SLC2A10	ORPHA:3342
HP:0100689	Decreased corneal thickness	5351	PLOD1	OMIM:225400
HP:0100689	Decreased corneal thickness	6935	ZEB1	OMIM:609141
HP:0100689	Decreased corneal thickness	84168	ANTXR1	OMIM:230740
HP:0100689	Decreased corneal thickness	84168	ANTXR1	ORPHA:2067
HP:0100689	Decreased corneal thickness	30813	VSX1	OMIM:148300
HP:0100689	Decreased corneal thickness	406960	MIR184	OMIM:614303
HP:0100689	Decreased corneal thickness	63895	PIEZO2	OMIM:108145
HP:0100689	Decreased corneal thickness	3265	HRAS	ORPHA:3071
HP:0100689	Decreased corneal thickness	4010	LMX1B	OMIM:161200
HP:0100689	Decreased corneal thickness	162	AP1B1	OMIM:242150
HP:0100689	Decreased corneal thickness	10681	GNB5	ORPHA:542306
HP:0100689	Decreased corneal thickness	11081	KERA	OMIM:217300
HP:0100689	Decreased corneal thickness	4166	CHST6	ORPHA:98969
HP:0100689	Decreased corneal thickness	91851	CHRDL1	OMIM:309300
HP:0100689	Decreased corneal thickness	113457	TUBA3D	OMIM:617928
HP:0100689	Decreased corneal thickness	11107	PRDM5	OMIM:614170
HP:0100689	Decreased corneal thickness	11107	PRDM5	ORPHA:90354
HP:0100689	Decreased corneal thickness	4921	DDR2	OMIM:618175
HP:0100689	Decreased corneal thickness	84627	ZNF469	ORPHA:90354
HP:0100689	Decreased corneal thickness	84627	ZNF469	OMIM:229200
HP:0011152	Early onset absence seizures	8659	ALDH4A1	ORPHA:79101
HP:0011152	Early onset absence seizures	8813	DPM1	ORPHA:79322
HP:0011152	Early onset absence seizures	501	ALDH7A1	ORPHA:3006
HP:0011152	Early onset absence seizures	11212	PLPBP	ORPHA:3006
HP:0011151	Atypical absence status epilepticus	1759	DNM1	OMIM:616346
HP:0011151	Atypical absence status epilepticus	4221	MEN1	ORPHA:652
HP:0011151	Atypical absence status epilepticus	1027	CDKN1B	ORPHA:652
HP:0011151	Atypical absence status epilepticus	1026	CDKN1A	ORPHA:652
HP:0011151	Atypical absence status epilepticus	1030	CDKN2B	ORPHA:652
HP:0011151	Atypical absence status epilepticus	1031	CDKN2C	ORPHA:652
HP:0011151	Atypical absence status epilepticus	6335	SCN9A	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	112755	STX1B	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	2563	GABRD	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	6326	SCN2A	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	6323	SCN1A	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	6324	SCN1B	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	348980	HCN1	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	84059	ADGRV1	ORPHA:36387
HP:0011151	Atypical absence status epilepticus	2566	GABRG2	ORPHA:36387
HP:0011150	Myoclonic absence seizure	8831	SYNGAP1	OMIM:612621
HP:0011150	Myoclonic absence seizure	8831	SYNGAP1	ORPHA:544254
HP:0011150	Myoclonic absence seizure	79947	DHDDS	OMIM:617836
HP:0011150	Myoclonic absence seizure	6323	SCN1A	OMIM:619317
HP:0011150	Myoclonic absence seizure	6513	SLC2A1	ORPHA:64280
HP:0011150	Myoclonic absence seizure	2562	GABRB3	ORPHA:64280
HP:0011150	Myoclonic absence seizure	2554	GABRA1	ORPHA:64280
HP:0011150	Myoclonic absence seizure	8912	CACNA1H	ORPHA:64280
HP:0011150	Myoclonic absence seizure	8629	JRK	ORPHA:64280
HP:0011150	Myoclonic absence seizure	2566	GABRG2	ORPHA:64280
HP:0011150	Myoclonic absence seizure	23732	FRRS1L	ORPHA:725
HP:0011150	Myoclonic absence seizure	2903	GRIN2A	ORPHA:725
HP:0011150	Myoclonic absence seizure	3778	KCNMA1	OMIM:618596
HP:0011150	Myoclonic absence seizure	23067	SETD1B	OMIM:619000
HP:0011157	Focal sensory seizure	3736	KCNA1	ORPHA:98809
HP:0011157	Focal sensory seizure	112476	PRRT2	ORPHA:98809
HP:0011157	Focal sensory seizure	112476	PRRT2	OMIM:602066
HP:0011157	Focal sensory seizure	112476	PRRT2	ORPHA:569
HP:0011157	Focal sensory seizure	9289	ADGRG1	ORPHA:98889
HP:0011157	Focal sensory seizure	5297	PI4KA	ORPHA:98889
HP:0011157	Focal sensory seizure	27286	SRPX2	ORPHA:98889
HP:0011157	Focal sensory seizure	773	CACNA1A	ORPHA:569
HP:0011157	Focal sensory seizure	6323	SCN1A	ORPHA:569
HP:0011157	Focal sensory seizure	477	ATP1A2	ORPHA:569
HP:0011157	Focal sensory seizure	11277	TREX1	ORPHA:247691
HP:0011157	Focal sensory seizure	7957	EPM2A	OMIM:254780
HP:0011157	Focal sensory seizure	7957	EPM2A	ORPHA:501
HP:0011157	Focal sensory seizure	378884	NHLRC1	OMIM:254780
HP:0011157	Focal sensory seizure	378884	NHLRC1	ORPHA:501
HP:0011157	Focal sensory seizure	6900	CNTN2	OMIM:615400
HP:0011157	Focal sensory seizure	5649	RELN	OMIM:600512
HP:0011157	Focal sensory seizure	64780	MICAL1	OMIM:600512
HP:0011157	Focal sensory seizure	9211	LGI1	OMIM:600512
HP:0011157	Focal sensory seizure	57526	PCDH19	OMIM:300088
HP:0011157	Focal sensory seizure	51083	GAL	OMIM:616461
HP:0011158	Focal sensory seizure with auditory features	5649	RELN	OMIM:616436
HP:0011158	Focal sensory seizure with auditory features	5649	RELN	OMIM:600512
HP:0011158	Focal sensory seizure with auditory features	64780	MICAL1	OMIM:600512
HP:0011158	Focal sensory seizure with auditory features	9211	LGI1	OMIM:600512
HP:0011158	Focal sensory seizure with auditory features	51083	GAL	OMIM:616461
HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	5649	RELN	OMIM:600512
HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	64780	MICAL1	OMIM:600512
HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	9211	LGI1	OMIM:600512
HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	51083	GAL	OMIM:616461
HP:0011154	Focal autonomic seizure	3785	KCNQ2	ORPHA:1949
HP:0011154	Focal autonomic seizure	3786	KCNQ3	ORPHA:1949
HP:0011154	Focal autonomic seizure	9681	DEPDC5	ORPHA:101046
HP:0011154	Focal autonomic seizure	57582	KCNT1	OMIM:614959
HP:0011154	Focal autonomic seizure	5649	RELN	OMIM:600512
HP:0011154	Focal autonomic seizure	64780	MICAL1	OMIM:600512
HP:0011154	Focal autonomic seizure	9211	LGI1	OMIM:600512
HP:0011154	Focal autonomic seizure	51083	GAL	OMIM:616461
HP:0011153	Focal motor seizure	50801	KCNK4	OMIM:618381
HP:0011153	Focal motor seizure	8504	PEX3	OMIM:617370
HP:0011153	Focal motor seizure	5649	RELN	OMIM:600512
HP:0011153	Focal motor seizure	64780	MICAL1	OMIM:600512
HP:0011153	Focal motor seizure	9211	LGI1	OMIM:600512
HP:0011153	Focal motor seizure	3785	KCNQ2	ORPHA:1949
HP:0011153	Focal motor seizure	3785	KCNQ2	ORPHA:306
HP:0011153	Focal motor seizure	3785	KCNQ2	OMIM:121200
HP:0011153	Focal motor seizure	3786	KCNQ3	ORPHA:1949
HP:0011153	Focal motor seizure	3786	KCNQ3	ORPHA:306
HP:0011153	Focal motor seizure	3786	KCNQ3	OMIM:121201
HP:0011153	Focal motor seizure	23312	DMXL2	OMIM:618663
HP:0011153	Focal motor seizure	132158	GLYCTK	OMIM:220120
HP:0011153	Focal motor seizure	23241	PACS2	OMIM:618067
HP:0011153	Focal motor seizure	6487	ST3GAL3	OMIM:615006
HP:0011153	Focal motor seizure	51294	PCDH12	OMIM:251280
HP:0011153	Focal motor seizure	53616	ADAM22	OMIM:617933
HP:0011153	Focal motor seizure	55325	UFSP2	OMIM:620028
HP:0011153	Focal motor seizure	23732	FRRS1L	ORPHA:725
HP:0011153	Focal motor seizure	2903	GRIN2A	ORPHA:725
HP:0011153	Focal motor seizure	6334	SCN8A	ORPHA:306
HP:0011153	Focal motor seizure	6326	SCN2A	ORPHA:306
HP:0011153	Focal motor seizure	112476	PRRT2	ORPHA:306
HP:0011153	Focal motor seizure	9568	GABBR2	OMIM:617904
HP:0011153	Focal motor seizure	6323	SCN1A	OMIM:604403
HP:0011153	Focal motor seizure	6323	SCN1A	OMIM:607208
HP:0011153	Focal motor seizure	6323	SCN1A	OMIM:619317
HP:0011153	Focal motor seizure	6323	SCN1A	ORPHA:33069
HP:0011153	Focal motor seizure	57526	PCDH19	OMIM:300088
HP:0011153	Focal motor seizure	57526	PCDH19	ORPHA:33069
HP:0011153	Focal motor seizure	284058	KANSL1	ORPHA:363965
HP:0011153	Focal motor seizure	284058	KANSL1	ORPHA:363958
HP:0011153	Focal motor seizure	6324	SCN1B	OMIM:617350
HP:0011153	Focal motor seizure	6324	SCN1B	ORPHA:33069
HP:0011153	Focal motor seizure	23316	CUX2	OMIM:618141
HP:0011153	Focal motor seizure	57468	SLC12A5	OMIM:616645
HP:0011153	Focal motor seizure	50485	SMARCAL1	ORPHA:1830
HP:0011153	Focal motor seizure	478	ATP1A3	OMIM:619606
HP:0011153	Focal motor seizure	2782	GNB1	OMIM:616973
HP:0011153	Focal motor seizure	2554	GABRA1	OMIM:615744
HP:0011153	Focal motor seizure	2554	GABRA1	ORPHA:33069
HP:0011153	Focal motor seizure	51343	FZR1	OMIM:620145
HP:0011153	Focal motor seizure	6335	SCN9A	ORPHA:33069
HP:0011153	Focal motor seizure	2566	GABRG2	ORPHA:33069
HP:0011153	Focal motor seizure	27286	SRPX2	ORPHA:1945
HP:0011153	Focal motor seizure	1798	DPAGT1	ORPHA:86309
HP:0011153	Focal motor seizure	6611	SMS	ORPHA:3063
HP:0011153	Focal motor seizure	5530	PPP3CA	OMIM:617711
HP:0011153	Focal motor seizure	23443	SLC35A3	OMIM:615553
HP:0011153	Focal motor seizure	727676	SNORD118	ORPHA:542310
HP:0011153	Focal motor seizure	84188	FAR1	OMIM:619338
HP:0011153	Focal motor seizure	4929	NR4A2	OMIM:619911
HP:0011153	Focal motor seizure	6507	SLC1A3	ORPHA:2131
HP:0011153	Focal motor seizure	477	ATP1A2	ORPHA:2131
HP:0011153	Focal motor seizure	477	ATP1A2	ORPHA:569
HP:0011153	Focal motor seizure	477	ATP1A2	OMIM:602481
HP:0011153	Focal motor seizure	686	BTD	ORPHA:79241
HP:0011153	Focal motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0011153	Focal motor seizure	170302	ARX	OMIM:308350
HP:0011153	Focal motor seizure	25814	ATXN10	ORPHA:98761
HP:0011153	Focal motor seizure	4695	NDUFA2	OMIM:618235
HP:0011153	Focal motor seizure	25930	PTPN23	OMIM:618890
HP:0011153	Focal motor seizure	55780	ERMARD	OMIM:615544
HP:0011153	Focal motor seizure	1806	DPYD	ORPHA:1675
HP:0011153	Focal motor seizure	7532	YWHAG	OMIM:617665
HP:0011153	Focal motor seizure	137682	NDUFAF6	OMIM:618239
HP:0011153	Focal motor seizure	57465	TBC1D24	OMIM:608105
HP:0011153	Focal motor seizure	2902	GRIN1	ORPHA:208447
HP:0011153	Focal motor seizure	1203	CLN5	ORPHA:228360
HP:0011153	Focal motor seizure	154881	KCTD7	ORPHA:263516
HP:0011153	Focal motor seizure	2137	EXTL3	ORPHA:508533
HP:0011153	Focal motor seizure	57531	HACE1	ORPHA:464282
HP:0011153	Focal motor seizure	8943	AP3D1	OMIM:617050
HP:0011153	Focal motor seizure	776	CACNA1D	ORPHA:369929
HP:0011153	Focal motor seizure	6389	SDHA	ORPHA:3208
HP:0011153	Focal motor seizure	6390	SDHB	ORPHA:3208
HP:0011153	Focal motor seizure	6392	SDHD	ORPHA:3208
HP:0011153	Focal motor seizure	644096	SDHAF1	ORPHA:3208
HP:0011153	Focal motor seizure	6304	SATB1	OMIM:619229
HP:0011153	Focal motor seizure	29920	PYCR2	ORPHA:481152
HP:0011153	Focal motor seizure	5428	POLG	OMIM:203700
HP:0011153	Focal motor seizure	5457	POU4F1	ORPHA:314647
HP:0011153	Focal motor seizure	23261	CAMTA1	ORPHA:314647
HP:0011153	Focal motor seizure	501	ALDH7A1	ORPHA:3006
HP:0011153	Focal motor seizure	11212	PLPBP	ORPHA:3006
HP:0011153	Focal motor seizure	2892	GRIA3	OMIM:300699
HP:0011153	Focal motor seizure	2775	GNAO1	OMIM:615473
HP:0011153	Focal motor seizure	773	CACNA1A	OMIM:617106
HP:0011153	Focal motor seizure	6506	SLC1A2	OMIM:617105
HP:0011153	Focal motor seizure	1183	CLCN4	ORPHA:485350
HP:0011153	Focal motor seizure	2019	EN1	OMIM:619218
HP:0011153	Focal motor seizure	56270	WDR45B	OMIM:617977
HP:0011153	Focal motor seizure	5290	PIK3CA	ORPHA:99802
HP:0011153	Focal motor seizure	2475	MTOR	ORPHA:99802
HP:0011153	Focal motor seizure	10000	AKT3	ORPHA:99802
HP:0011153	Focal motor seizure	55768	NGLY1	ORPHA:404454
HP:0011153	Focal motor seizure	5813	PURA	ORPHA:314655
HP:0011153	Focal motor seizure	79751	SLC25A22	ORPHA:1935
HP:0011153	Focal motor seizure	150094	SIK1	ORPHA:1935
HP:0011153	Focal motor seizure	79583	TMEM231	ORPHA:2752
HP:0011153	Focal motor seizure	1137	CHRNA4	ORPHA:98784
HP:0011153	Focal motor seizure	1135	CHRNA2	ORPHA:98784
HP:0011153	Focal motor seizure	57010	CABP4	ORPHA:98784
HP:0011153	Focal motor seizure	1141	CHRNB2	ORPHA:98784
HP:0011153	Focal motor seizure	57582	KCNT1	ORPHA:98784
HP:0011153	Focal motor seizure	1392	CRH	ORPHA:98784
HP:0011153	Focal motor seizure	9681	DEPDC5	ORPHA:98784
HP:0011153	Focal motor seizure	781	CACNA2D1	OMIM:620149
HP:0011153	Focal motor seizure	10319	LAMC3	OMIM:614115
HP:0031568	Thickened aortic valve cusp	153642	ARSK	OMIM:619698
HP:0031571	Paramedian facial cleft	60529	ALX4	OMIM:613451
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	6299	SALL1	OMIM:107480
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	6299	SALL1	ORPHA:857
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	51339	DACT1	ORPHA:857
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	4000	LMNA	ORPHA:2229
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	285203	EOGT	OMIM:615297
HP:0010107	Short proximal phalanx of hallux	3549	IHH	OMIM:112500
HP:0010107	Short proximal phalanx of hallux	9896	FIG4	ORPHA:3472
HP:0010107	Short proximal phalanx of hallux	55697	VAC14	ORPHA:3472
HP:0008102	Expanded metatarsals with widened medullary cavities	64135	IFIH1	OMIM:182250
HP:0008103	Delayed tarsal ossification	5745	PTH1R	OMIM:600002
HP:0008103	Delayed tarsal ossification	3209	HOXA13	OMIM:140000
HP:0008103	Delayed tarsal ossification	4148	MATN3	OMIM:607078
HP:0008103	Delayed tarsal ossification	1280	COL2A1	OMIM:183900
HP:0008127	Bipartite calcaneus	2316	FLNA	OMIM:311300
HP:0008127	Bipartite calcaneus	2317	FLNB	OMIM:150250
HP:0001783	Broad metatarsal	5144	PDE4D	ORPHA:439822
HP:0001783	Broad metatarsal	5745	PTH1R	OMIM:600002
HP:0001783	Broad metatarsal	2260	FGFR1	OMIM:166250
HP:0001783	Broad metatarsal	2260	FGFR1	OMIM:123150
HP:0001783	Broad metatarsal	2263	FGFR2	ORPHA:1540
HP:0001783	Broad metatarsal	2263	FGFR2	OMIM:123150
HP:0001783	Broad metatarsal	2200	FBN1	OMIM:608328
HP:0001783	Broad metatarsal	4882	NPR2	OMIM:602875
HP:0001783	Broad metatarsal	83452	RAB33B	OMIM:615222
HP:0001783	Broad metatarsal	4313	MMP2	OMIM:259600
HP:0001783	Broad metatarsal	81794	ADAMTS10	OMIM:277600
HP:0001783	Broad metatarsal	79989	IFT56	OMIM:619534
HP:0001783	Broad metatarsal	4750	NEK1	ORPHA:2751
HP:0001783	Broad metatarsal	124583	CANT1	OMIM:251450
HP:0001783	Broad metatarsal	10060	ABCC9	OMIM:239850
HP:0100691	Abnormality of the curvature of the cornea	7528	YY1	ORPHA:506358
HP:0100691	Abnormality of the curvature of the cornea	778	CACNA1F	OMIM:300476
HP:0100691	Abnormality of the curvature of the cornea	778	CACNA1F	ORPHA:178333
HP:0100691	Abnormality of the curvature of the cornea	778	CACNA1F	OMIM:300600
HP:0100691	Abnormality of the curvature of the cornea	8036	SHOC2	OMIM:607721
HP:0100691	Abnormality of the curvature of the cornea	5076	PAX2	ORPHA:97362
HP:0100691	Abnormality of the curvature of the cornea	5087	PBX1	ORPHA:97362
HP:0100691	Abnormality of the curvature of the cornea	23394	ADNP	ORPHA:404448
HP:0100691	Abnormality of the curvature of the cornea	23394	ADNP	OMIM:615873
HP:0100691	Abnormality of the curvature of the cornea	4099	MAG	OMIM:616680
HP:0100691	Abnormality of the curvature of the cornea	4099	MAG	ORPHA:459056
HP:0100691	Abnormality of the curvature of the cornea	51256	TBC1D7	OMIM:248000
HP:0100691	Abnormality of the curvature of the cornea	9759	HDAC4	OMIM:619797
HP:0100691	Abnormality of the curvature of the cornea	30000	TNPO2	OMIM:619556
HP:0100691	Abnormality of the curvature of the cornea	9158	FIBP	ORPHA:500095
HP:0100691	Abnormality of the curvature of the cornea	1859	DYRK1A	ORPHA:268261
HP:0100691	Abnormality of the curvature of the cornea	1859	DYRK1A	ORPHA:464311
HP:0100691	Abnormality of the curvature of the cornea	23241	PACS2	OMIM:618067
HP:0100691	Abnormality of the curvature of the cornea	10765	KDM5B	OMIM:618109
HP:0100691	Abnormality of the curvature of the cornea	64116	SLC39A8	OMIM:616721
HP:0100691	Abnormality of the curvature of the cornea	64116	SLC39A8	ORPHA:468699
HP:0100691	Abnormality of the curvature of the cornea	7299	TYR	OMIM:203100
HP:0100691	Abnormality of the curvature of the cornea	406960	MIR184	OMIM:614303
HP:0100691	Abnormality of the curvature of the cornea	3008	H1-4	OMIM:617537
HP:0100691	Abnormality of the curvature of the cornea	7003	TEAD1	OMIM:108985
HP:0100691	Abnormality of the curvature of the cornea	118987	PDZD8	OMIM:620021
HP:0100691	Abnormality of the curvature of the cornea	1299	COL9A3	OMIM:620022
HP:0100691	Abnormality of the curvature of the cornea	1299	COL9A3	ORPHA:250984
HP:0100691	Abnormality of the curvature of the cornea	84570	COL25A1	ORPHA:91411
HP:0100691	Abnormality of the curvature of the cornea	79776	ZFHX4	ORPHA:91411
HP:0100691	Abnormality of the curvature of the cornea	23126	POGZ	ORPHA:468678
HP:0100691	Abnormality of the curvature of the cornea	23126	POGZ	OMIM:616364
HP:0100691	Abnormality of the curvature of the cornea	64324	NSD1	ORPHA:821
HP:0100691	Abnormality of the curvature of the cornea	29072	SETD2	ORPHA:821
HP:0100691	Abnormality of the curvature of the cornea	10297	APC2	ORPHA:821
HP:0100691	Abnormality of the curvature of the cornea	7045	TGFBI	ORPHA:98964
HP:0100691	Abnormality of the curvature of the cornea	7045	TGFBI	ORPHA:98960
HP:0100691	Abnormality of the curvature of the cornea	3981	LIG4	OMIM:606593
HP:0100691	Abnormality of the curvature of the cornea	55593	OTUD5	OMIM:301056
HP:0100691	Abnormality of the curvature of the cornea	4125	MAN2B1	ORPHA:309282
HP:0100691	Abnormality of the curvature of the cornea	5575	PRKAR1B	OMIM:619680
HP:0100691	Abnormality of the curvature of the cornea	146167	SLC38A8	OMIM:609218
HP:0100691	Abnormality of the curvature of the cornea	89910	UBE3B	OMIM:244450
HP:0100691	Abnormality of the curvature of the cornea	55209	SETD5	OMIM:615761
HP:0100691	Abnormality of the curvature of the cornea	55215	FANCI	OMIM:609053
HP:0100691	Abnormality of the curvature of the cornea	55215	FANCI	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	4010	LMX1B	ORPHA:495818
HP:0100691	Abnormality of the curvature of the cornea	6812	STXBP1	ORPHA:495818
HP:0100691	Abnormality of the curvature of the cornea	6905	TBCE	ORPHA:2323
HP:0100691	Abnormality of the curvature of the cornea	10686	CLDN16	OMIM:248250
HP:0100691	Abnormality of the curvature of the cornea	169522	KCNV2	OMIM:610356
HP:0100691	Abnormality of the curvature of the cornea	5010	CLDN11	OMIM:619328
HP:0100691	Abnormality of the curvature of the cornea	473	RERE	ORPHA:494344
HP:0100691	Abnormality of the curvature of the cornea	55777	MBD5	OMIM:156200
HP:0100691	Abnormality of the curvature of the cornea	51360	MBTPS2	ORPHA:2273
HP:0100691	Abnormality of the curvature of the cornea	56915	EXOSC5	OMIM:619576
HP:0100691	Abnormality of the curvature of the cornea	2590	GALNT2	OMIM:618885
HP:0100691	Abnormality of the curvature of the cornea	57492	ARID1B	OMIM:135900
HP:0100691	Abnormality of the curvature of the cornea	55870	ASH1L	OMIM:617796
HP:0100691	Abnormality of the curvature of the cornea	2200	FBN1	OMIM:154700
HP:0100691	Abnormality of the curvature of the cornea	2200	FBN1	OMIM:608328
HP:0100691	Abnormality of the curvature of the cornea	54496	PRMT7	OMIM:617157
HP:0100691	Abnormality of the curvature of the cornea	92255	LMBRD2	OMIM:619694
HP:0100691	Abnormality of the curvature of the cornea	7275	TUB	OMIM:616188
HP:0100691	Abnormality of the curvature of the cornea	2072	ERCC4	OMIM:278760
HP:0100691	Abnormality of the curvature of the cornea	2072	ERCC4	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	113189	CHST14	ORPHA:2953
HP:0100691	Abnormality of the curvature of the cornea	113189	CHST14	OMIM:601776
HP:0100691	Abnormality of the curvature of the cornea	29940	DSE	ORPHA:2953
HP:0100691	Abnormality of the curvature of the cornea	5119	CHMP1A	OMIM:614961
HP:0100691	Abnormality of the curvature of the cornea	816	CAMK2B	OMIM:617799
HP:0100691	Abnormality of the curvature of the cornea	30813	VSX1	OMIM:148300
HP:0100691	Abnormality of the curvature of the cornea	30813	VSX1	ORPHA:98973
HP:0100691	Abnormality of the curvature of the cornea	1108	CHD4	OMIM:617159
HP:0100691	Abnormality of the curvature of the cornea	91851	CHRDL1	OMIM:309300
HP:0100691	Abnormality of the curvature of the cornea	84100	ARL6	OMIM:209900
HP:0100691	Abnormality of the curvature of the cornea	79140	CCDC28B	OMIM:209900
HP:0100691	Abnormality of the curvature of the cornea	582	BBS1	OMIM:209900
HP:0100691	Abnormality of the curvature of the cornea	708	C1QBP	OMIM:617713
HP:0100691	Abnormality of the curvature of the cornea	672	BRCA1	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	10459	MAD2L2	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	7516	XRCC2	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	29089	UBE2T	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	675	BRCA2	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	55120	FANCL	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2177	FANCD2	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2175	FANCA	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2187	FANCB	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2176	FANCC	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2178	FANCE	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2188	FANCF	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	2189	FANCG	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	5888	RAD51	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	5889	RAD51C	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	55159	RFWD3	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	83990	BRIP1	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	57697	FANCM	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	79728	PALB2	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	84464	SLX4	ORPHA:84
HP:0100691	Abnormality of the curvature of the cornea	9241	NOG	OMIM:186500
HP:0100691	Abnormality of the curvature of the cornea	222663	SCUBE3	OMIM:619184
HP:0100691	Abnormality of the curvature of the cornea	6045	RNF2	OMIM:619460
HP:0100691	Abnormality of the curvature of the cornea	9401	RECQL4	OMIM:218600
HP:0100691	Abnormality of the curvature of the cornea	9839	ZEB2	ORPHA:261552
HP:0100691	Abnormality of the curvature of the cornea	9839	ZEB2	ORPHA:261537
HP:0100691	Abnormality of the curvature of the cornea	372	ARCN1	OMIM:617164
HP:0100691	Abnormality of the curvature of the cornea	9757	KMT2B	OMIM:617284
HP:0100691	Abnormality of the curvature of the cornea	9757	KMT2B	OMIM:619934
HP:0100691	Abnormality of the curvature of the cornea	54681	P4HTM	OMIM:618493
HP:0100691	Abnormality of the curvature of the cornea	4761	NEUROD2	OMIM:618374
HP:0100691	Abnormality of the curvature of the cornea	26040	SETBP1	OMIM:616078
HP:0100691	Abnormality of the curvature of the cornea	57178	ZMIZ1	OMIM:618659
HP:0100691	Abnormality of the curvature of the cornea	23065	EMC1	OMIM:616875
HP:0100691	Abnormality of the curvature of the cornea	23065	EMC1	ORPHA:480898
HP:0100691	Abnormality of the curvature of the cornea	4591	TRIM37	OMIM:253250
HP:0100691	Abnormality of the curvature of the cornea	149461	CLDN19	OMIM:248190
HP:0100691	Abnormality of the curvature of the cornea	165	AEBP1	ORPHA:536532
HP:0100691	Abnormality of the curvature of the cornea	2743	GLRB	OMIM:614619
HP:0100691	Abnormality of the curvature of the cornea	26160	IFT172	OMIM:619471
HP:0100691	Abnormality of the curvature of the cornea	1798	DPAGT1	ORPHA:86309
HP:0100691	Abnormality of the curvature of the cornea	84265	POLR3GL	OMIM:619234
HP:0100691	Abnormality of the curvature of the cornea	253738	EBF3	OMIM:617330
HP:0100691	Abnormality of the curvature of the cornea	57498	KIDINS220	OMIM:617296
HP:0100691	Abnormality of the curvature of the cornea	29957	SLC25A24	ORPHA:2095
HP:0100691	Abnormality of the curvature of the cornea	57003	CCDC47	OMIM:618268
HP:0100691	Abnormality of the curvature of the cornea	134218	DNAJC21	OMIM:617052
HP:0100691	Abnormality of the curvature of the cornea	57545	CC2D2A	OMIM:612285
HP:0100691	Abnormality of the curvature of the cornea	51604	PIGT	ORPHA:369837
HP:0100691	Abnormality of the curvature of the cornea	4659	PPP1R12A	OMIM:618820
HP:0100691	Abnormality of the curvature of the cornea	8239	USP9X	ORPHA:480880
HP:0100691	Abnormality of the curvature of the cornea	8239	USP9X	OMIM:300968
HP:0100691	Abnormality of the curvature of the cornea	3098	HK1	OMIM:618547
HP:0100691	Abnormality of the curvature of the cornea	9091	PIGQ	OMIM:618548
HP:0100691	Abnormality of the curvature of the cornea	1282	COL4A1	OMIM:175780
HP:0100691	Abnormality of the curvature of the cornea	63895	PIEZO2	OMIM:108145
HP:0100691	Abnormality of the curvature of the cornea	6925	TCF4	ORPHA:2896
HP:0100691	Abnormality of the curvature of the cornea	6925	TCF4	OMIM:610954
HP:0100691	Abnormality of the curvature of the cornea	283446	MYO1H	OMIM:619482
HP:0100691	Abnormality of the curvature of the cornea	8314	BAP1	OMIM:619762
HP:0100691	Abnormality of the curvature of the cornea	388552	BLOC1S3	OMIM:614077
HP:0100691	Abnormality of the curvature of the cornea	29123	ANKRD11	ORPHA:261250
HP:0100691	Abnormality of the curvature of the cornea	4784	NFIX	OMIM:614753
HP:0100691	Abnormality of the curvature of the cornea	1806	DPYD	ORPHA:1675
HP:0100691	Abnormality of the curvature of the cornea	1806	DPYD	ORPHA:293948
HP:0100691	Abnormality of the curvature of the cornea	2890	GRIA1	OMIM:619927
HP:0100691	Abnormality of the curvature of the cornea	23261	CAMTA1	OMIM:614756
HP:0100691	Abnormality of the curvature of the cornea	51341	ZBTB7A	OMIM:619769
HP:0100691	Abnormality of the curvature of the cornea	50485	SMARCAL1	OMIM:242900
HP:0100691	Abnormality of the curvature of the cornea	9338	TCEAL1	OMIM:301094
HP:0100691	Abnormality of the curvature of the cornea	7401	CLRN1	ORPHA:231183
HP:0100691	Abnormality of the curvature of the cornea	22901	ARSG	ORPHA:231183
HP:0100691	Abnormality of the curvature of the cornea	4575	MT-TS2	ORPHA:231183
HP:0100691	Abnormality of the curvature of the cornea	3035	HARS1	ORPHA:231183
HP:0100691	Abnormality of the curvature of the cornea	84131	CEP78	ORPHA:231183
HP:0100691	Abnormality of the curvature of the cornea	51322	WAC	ORPHA:284169
HP:0100691	Abnormality of the curvature of the cornea	51322	WAC	OMIM:616708
HP:0100691	Abnormality of the curvature of the cornea	80267	EDEM3	OMIM:619493
HP:0100691	Abnormality of the curvature of the cornea	5295	PIK3R1	OMIM:269880
HP:0100691	Abnormality of the curvature of the cornea	81031	SLC2A10	OMIM:208050
HP:0100691	Abnormality of the curvature of the cornea	5528	PPP2R5D	ORPHA:457279
HP:0100691	Abnormality of the curvature of the cornea	387	RHOA	OMIM:618727
HP:0100691	Abnormality of the curvature of the cornea	7994	KAT6A	OMIM:616268
HP:0100691	Abnormality of the curvature of the cornea	25836	NIPBL	OMIM:122470
HP:0100691	Abnormality of the curvature of the cornea	1107	CHD3	OMIM:618205
HP:0100691	Abnormality of the curvature of the cornea	2316	FLNA	ORPHA:1826
HP:0100691	Abnormality of the curvature of the cornea	6885	MAP3K7	ORPHA:1826
HP:0100691	Abnormality of the curvature of the cornea	404672	GTF2H5	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	833	CARS1	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	2068	ERCC2	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	7737	RNF113A	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	136647	MPLKIP	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	6897	TARS1	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	2071	ERCC3	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	2961	GTF2E2	ORPHA:33364
HP:0100691	Abnormality of the curvature of the cornea	100151683	RNU4ATAC	ORPHA:1824
HP:0100691	Abnormality of the curvature of the cornea	224	ALDH3A2	OMIM:270200
HP:0100691	Abnormality of the curvature of the cornea	8943	AP3D1	ORPHA:54
HP:0100691	Abnormality of the curvature of the cornea	3845	KRAS	OMIM:600268
HP:0100691	Abnormality of the curvature of the cornea	55181	SMG8	OMIM:619268
HP:0100691	Abnormality of the curvature of the cornea	3832	KIF11	OMIM:152950
HP:0100691	Abnormality of the curvature of the cornea	26173	INTS1	OMIM:618571
HP:0100691	Abnormality of the curvature of the cornea	9181	ARHGEF2	OMIM:617523
HP:0100691	Abnormality of the curvature of the cornea	1297	COL9A1	OMIM:614134
HP:0100691	Abnormality of the curvature of the cornea	1297	COL9A1	ORPHA:250984
HP:0100691	Abnormality of the curvature of the cornea	1301	COL11A1	ORPHA:250984
HP:0100691	Abnormality of the curvature of the cornea	1298	COL9A2	ORPHA:250984
HP:0100691	Abnormality of the curvature of the cornea	84695	LOXL3	ORPHA:250984
HP:0100691	Abnormality of the curvature of the cornea	27241	BBS9	OMIM:615986
HP:0100691	Abnormality of the curvature of the cornea	55294	FBXW7	OMIM:620012
HP:0100691	Abnormality of the curvature of the cornea	6935	ZEB1	ORPHA:98973
HP:0100691	Abnormality of the curvature of the cornea	58495	OVOL2	ORPHA:98973
HP:0100691	Abnormality of the curvature of the cornea	79977	GRHL2	ORPHA:98973
HP:0100691	Abnormality of the curvature of the cornea	1296	COL8A2	ORPHA:98973
HP:0100691	Abnormality of the curvature of the cornea	57459	GATAD2B	ORPHA:363686
HP:0100691	Abnormality of the curvature of the cornea	4166	CHST6	ORPHA:98969
HP:0100691	Abnormality of the curvature of the cornea	79158	GNPTAB	OMIM:252600
HP:0100691	Abnormality of the curvature of the cornea	23102	TBC1D2B	ORPHA:397973
HP:0100691	Abnormality of the curvature of the cornea	64221	ROBO3	OMIM:607313
HP:0100691	Abnormality of the curvature of the cornea	4935	GPR143	OMIM:300814
HP:0100691	Abnormality of the curvature of the cornea	1281	COL3A1	OMIM:130050
HP:0100691	Abnormality of the curvature of the cornea	1281	COL3A1	ORPHA:286
HP:0100691	Abnormality of the curvature of the cornea	3769	KCNJ13	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	343035	RD3	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	145226	RDH12	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	145226	RDH12	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	1406	CRX	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	1406	CRX	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	1406	CRX	OMIM:613829
HP:0100691	Abnormality of the curvature of the cornea	64802	NMNAT1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	64802	NMNAT1	OMIM:608553
HP:0100691	Abnormality of the curvature of the cornea	57096	RPGRIP1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	57096	RPGRIP1	OMIM:613826
HP:0100691	Abnormality of the curvature of the cornea	80184	CEP290	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	10383	TUBB4B	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	9742	IFT140	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	9742	IFT140	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	85015	USP45	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	6121	RPE65	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	6121	RPE65	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6121	RPE65	OMIM:204100
HP:0100691	Abnormality of the curvature of the cornea	23418	CRB1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	23418	CRB1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	23418	CRB1	OMIM:613835
HP:0100691	Abnormality of the curvature of the cornea	5130	PCYT1A	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	9657	IQCB1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	392255	GDF6	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	23746	AIPL1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	23746	AIPL1	OMIM:604393
HP:0100691	Abnormality of the curvature of the cornea	3000	GUCY2D	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	3000	GUCY2D	OMIM:204000
HP:0100691	Abnormality of the curvature of the cornea	9227	LRAT	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	9227	LRAT	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	55812	SPATA7	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	55812	SPATA7	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	7287	TULP1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	7287	TULP1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	167691	LCA5	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	3614	IMPDH1	ORPHA:65
HP:0100691	Abnormality of the curvature of the cornea	3614	IMPDH1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	7025	NR2F1	ORPHA:401777
HP:0100691	Abnormality of the curvature of the cornea	92840	REEP6	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6094	ROM1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6017	RLBP1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	24	ABCA4	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	130557	ZNF513	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	92211	CDHR1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	23568	ARL2BP	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	54806	AHI1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6101	RP1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	3419	IDH3A	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	4751	NEK2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	346007	EYS	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	8100	IFT88	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	23020	SNRNP200	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	762	CA4	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	138050	HGSNAT	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	196	AHR	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	123016	TTC8	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6103	RPGR	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5148	PDE6G	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	26121	PRPF31	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	583	BBS2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	4117	MAK	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	25794	FSCN2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	375298	CERKL	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	3420	IDH3B	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	57670	KIAA1549	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	24148	PRPF6	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	10461	MERTK	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	57709	SLC7A14	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	768206	PRCD	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	7399	USH2A	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	23370	ARHGEF18	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5949	RBP3	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6010	RHO	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6100	RP9	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	10002	NR2E3	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	84140	FAM161A	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	55624	POMGNT1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	79797	ZNF408	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	403	ARL3	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5145	PDE6A	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	10210	TOPORS	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	8842	PROM1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	9128	PRPF4	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	50939	IMPG2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	8481	OFD1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	49855	SCAPER	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	2979	GUCA1B	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	1259	CNGA1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	1258	CNGB1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	60509	AGBL5	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5961	PRPH2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	388939	PCARE	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	7439	BEST1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	9785	DHX38	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5995	RGR	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	9129	PRPF3	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	55975	KLHL7	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	3617	IMPG1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	94137	RP1L1	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5158	PDE6B	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6102	RP2	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	55857	KIZ	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	64218	SEMA4A	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	4901	NRL	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	157657	CFAP418	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	10594	PRPF8	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	6295	SAG	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	79947	DHDDS	ORPHA:791
HP:0100691	Abnormality of the curvature of the cornea	5351	PLOD1	OMIM:225400
HP:0100691	Abnormality of the curvature of the cornea	84627	ZNF469	OMIM:229200
HP:0100691	Abnormality of the curvature of the cornea	84168	ANTXR1	OMIM:230740
HP:0100691	Abnormality of the curvature of the cornea	84168	ANTXR1	ORPHA:2067
HP:0100691	Abnormality of the curvature of the cornea	3265	HRAS	ORPHA:3071
HP:0100691	Abnormality of the curvature of the cornea	11107	PRDM5	OMIM:614170
HP:0100691	Abnormality of the curvature of the cornea	162	AP1B1	OMIM:242150
HP:0100691	Abnormality of the curvature of the cornea	10681	GNB5	ORPHA:542306
HP:0100691	Abnormality of the curvature of the cornea	113457	TUBA3D	OMIM:617928
HP:0100691	Abnormality of the curvature of the cornea	11081	KERA	OMIM:217300
HP:0100691	Abnormality of the curvature of the cornea	4140	MARK3	OMIM:618283
HP:0100691	Abnormality of the curvature of the cornea	6804	STX1A	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	7461	CLIP2	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	84277	DNAJC30	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	8468	FKBP6	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	5982	RFC2	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	2969	GTF2I	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	3984	LIMK1	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	9569	GTF2IRD1	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	155382	VPS37D	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	155368	METTL27	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	114049	BUD23	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	7458	EIF4H	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	84163	GTF2IRD2	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	9275	BCL7B	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	26608	TBL2	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	653361	NCF1	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	135886	TMEM270	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	51085	MLXIPL	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	9031	BAZ1B	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	2006	ELN	ORPHA:904
HP:0100691	Abnormality of the curvature of the cornea	7042	TGFB2	OMIM:614816
HP:0100691	Abnormality of the curvature of the cornea	5308	PITX2	OMIM:180550
HP:0100691	Abnormality of the curvature of the cornea	83959	SLC4A11	ORPHA:293603
HP:0100691	Abnormality of the curvature of the cornea	1308	COL17A1	ORPHA:293381
HP:0100691	Abnormality of the curvature of the cornea	7407	VARS1	OMIM:617802
HP:0100691	Abnormality of the curvature of the cornea	1261	CNGA3	OMIM:216900
HP:0100691	Abnormality of the curvature of the cornea	7030	TFE3	OMIM:301066
HP:0100691	Abnormality of the curvature of the cornea	23162	MAPK8IP3	OMIM:618443
HP:0100691	Abnormality of the curvature of the cornea	1278	COL1A2	ORPHA:230851
HP:0100691	Abnormality of the curvature of the cornea	10093	ARPC4	OMIM:620141
HP:0100692	Increased corneal curvature	1281	COL3A1	OMIM:130050
HP:0100692	Increased corneal curvature	1281	COL3A1	ORPHA:286
HP:0100692	Increased corneal curvature	3769	KCNJ13	ORPHA:65
HP:0100692	Increased corneal curvature	343035	RD3	ORPHA:65
HP:0100692	Increased corneal curvature	145226	RDH12	ORPHA:65
HP:0100692	Increased corneal curvature	145226	RDH12	ORPHA:791
HP:0100692	Increased corneal curvature	1406	CRX	ORPHA:65
HP:0100692	Increased corneal curvature	1406	CRX	ORPHA:791
HP:0100692	Increased corneal curvature	1406	CRX	OMIM:613829
HP:0100692	Increased corneal curvature	64802	NMNAT1	ORPHA:65
HP:0100692	Increased corneal curvature	64802	NMNAT1	OMIM:608553
HP:0100692	Increased corneal curvature	57096	RPGRIP1	ORPHA:65
HP:0100692	Increased corneal curvature	57096	RPGRIP1	OMIM:613826
HP:0100692	Increased corneal curvature	80184	CEP290	ORPHA:65
HP:0100692	Increased corneal curvature	10383	TUBB4B	ORPHA:65
HP:0100692	Increased corneal curvature	9742	IFT140	ORPHA:65
HP:0100692	Increased corneal curvature	9742	IFT140	ORPHA:791
HP:0100692	Increased corneal curvature	85015	USP45	ORPHA:65
HP:0100692	Increased corneal curvature	6121	RPE65	ORPHA:65
HP:0100692	Increased corneal curvature	6121	RPE65	ORPHA:791
HP:0100692	Increased corneal curvature	6121	RPE65	OMIM:204100
HP:0100692	Increased corneal curvature	23418	CRB1	ORPHA:65
HP:0100692	Increased corneal curvature	23418	CRB1	ORPHA:791
HP:0100692	Increased corneal curvature	23418	CRB1	OMIM:613835
HP:0100692	Increased corneal curvature	5130	PCYT1A	ORPHA:65
HP:0100692	Increased corneal curvature	9657	IQCB1	ORPHA:65
HP:0100692	Increased corneal curvature	392255	GDF6	ORPHA:65
HP:0100692	Increased corneal curvature	23746	AIPL1	ORPHA:65
HP:0100692	Increased corneal curvature	23746	AIPL1	OMIM:604393
HP:0100692	Increased corneal curvature	3000	GUCY2D	ORPHA:65
HP:0100692	Increased corneal curvature	3000	GUCY2D	OMIM:204000
HP:0100692	Increased corneal curvature	9227	LRAT	ORPHA:65
HP:0100692	Increased corneal curvature	9227	LRAT	ORPHA:791
HP:0100692	Increased corneal curvature	55812	SPATA7	ORPHA:65
HP:0100692	Increased corneal curvature	55812	SPATA7	ORPHA:791
HP:0100692	Increased corneal curvature	7287	TULP1	ORPHA:65
HP:0100692	Increased corneal curvature	7287	TULP1	ORPHA:791
HP:0100692	Increased corneal curvature	167691	LCA5	ORPHA:65
HP:0100692	Increased corneal curvature	3614	IMPDH1	ORPHA:65
HP:0100692	Increased corneal curvature	3614	IMPDH1	ORPHA:791
HP:0100692	Increased corneal curvature	7025	NR2F1	ORPHA:401777
HP:0100692	Increased corneal curvature	92840	REEP6	ORPHA:791
HP:0100692	Increased corneal curvature	6094	ROM1	ORPHA:791
HP:0100692	Increased corneal curvature	6017	RLBP1	ORPHA:791
HP:0100692	Increased corneal curvature	7401	CLRN1	ORPHA:791
HP:0100692	Increased corneal curvature	24	ABCA4	ORPHA:791
HP:0100692	Increased corneal curvature	130557	ZNF513	ORPHA:791
HP:0100692	Increased corneal curvature	582	BBS1	ORPHA:791
HP:0100692	Increased corneal curvature	92211	CDHR1	ORPHA:791
HP:0100692	Increased corneal curvature	23568	ARL2BP	ORPHA:791
HP:0100692	Increased corneal curvature	54806	AHI1	ORPHA:791
HP:0100692	Increased corneal curvature	6101	RP1	ORPHA:791
HP:0100692	Increased corneal curvature	3419	IDH3A	ORPHA:791
HP:0100692	Increased corneal curvature	4751	NEK2	ORPHA:791
HP:0100692	Increased corneal curvature	346007	EYS	ORPHA:791
HP:0100692	Increased corneal curvature	8100	IFT88	ORPHA:791
HP:0100692	Increased corneal curvature	23020	SNRNP200	ORPHA:791
HP:0100692	Increased corneal curvature	762	CA4	ORPHA:791
HP:0100692	Increased corneal curvature	138050	HGSNAT	ORPHA:791
HP:0100692	Increased corneal curvature	196	AHR	ORPHA:791
HP:0100692	Increased corneal curvature	123016	TTC8	ORPHA:791
HP:0100692	Increased corneal curvature	6103	RPGR	ORPHA:791
HP:0100692	Increased corneal curvature	5148	PDE6G	ORPHA:791
HP:0100692	Increased corneal curvature	26160	IFT172	ORPHA:791
HP:0100692	Increased corneal curvature	26121	PRPF31	ORPHA:791
HP:0100692	Increased corneal curvature	583	BBS2	ORPHA:791
HP:0100692	Increased corneal curvature	4117	MAK	ORPHA:791
HP:0100692	Increased corneal curvature	25794	FSCN2	ORPHA:791
HP:0100692	Increased corneal curvature	375298	CERKL	ORPHA:791
HP:0100692	Increased corneal curvature	3420	IDH3B	ORPHA:791
HP:0100692	Increased corneal curvature	57670	KIAA1549	ORPHA:791
HP:0100692	Increased corneal curvature	7275	TUB	ORPHA:791
HP:0100692	Increased corneal curvature	24148	PRPF6	ORPHA:791
HP:0100692	Increased corneal curvature	10461	MERTK	ORPHA:791
HP:0100692	Increased corneal curvature	57709	SLC7A14	ORPHA:791
HP:0100692	Increased corneal curvature	768206	PRCD	ORPHA:791
HP:0100692	Increased corneal curvature	7399	USH2A	ORPHA:791
HP:0100692	Increased corneal curvature	23370	ARHGEF18	ORPHA:791
HP:0100692	Increased corneal curvature	5949	RBP3	ORPHA:791
HP:0100692	Increased corneal curvature	6010	RHO	ORPHA:791
HP:0100692	Increased corneal curvature	6100	RP9	ORPHA:791
HP:0100692	Increased corneal curvature	10002	NR2E3	ORPHA:791
HP:0100692	Increased corneal curvature	84140	FAM161A	ORPHA:791
HP:0100692	Increased corneal curvature	55624	POMGNT1	ORPHA:791
HP:0100692	Increased corneal curvature	79797	ZNF408	ORPHA:791
HP:0100692	Increased corneal curvature	403	ARL3	ORPHA:791
HP:0100692	Increased corneal curvature	5145	PDE6A	ORPHA:791
HP:0100692	Increased corneal curvature	10210	TOPORS	ORPHA:791
HP:0100692	Increased corneal curvature	8842	PROM1	ORPHA:791
HP:0100692	Increased corneal curvature	9128	PRPF4	ORPHA:791
HP:0100692	Increased corneal curvature	50939	IMPG2	ORPHA:791
HP:0100692	Increased corneal curvature	8481	OFD1	ORPHA:791
HP:0100692	Increased corneal curvature	49855	SCAPER	ORPHA:791
HP:0100692	Increased corneal curvature	2979	GUCA1B	ORPHA:791
HP:0100692	Increased corneal curvature	1259	CNGA1	ORPHA:791
HP:0100692	Increased corneal curvature	1258	CNGB1	ORPHA:791
HP:0100692	Increased corneal curvature	60509	AGBL5	ORPHA:791
HP:0100692	Increased corneal curvature	5961	PRPH2	ORPHA:791
HP:0100692	Increased corneal curvature	388939	PCARE	ORPHA:791
HP:0100692	Increased corneal curvature	7439	BEST1	ORPHA:791
HP:0100692	Increased corneal curvature	9785	DHX38	ORPHA:791
HP:0100692	Increased corneal curvature	5995	RGR	ORPHA:791
HP:0100692	Increased corneal curvature	9129	PRPF3	ORPHA:791
HP:0100692	Increased corneal curvature	55975	KLHL7	ORPHA:791
HP:0100692	Increased corneal curvature	3617	IMPG1	ORPHA:791
HP:0100692	Increased corneal curvature	94137	RP1L1	ORPHA:791
HP:0100692	Increased corneal curvature	5158	PDE6B	ORPHA:791
HP:0100692	Increased corneal curvature	6102	RP2	ORPHA:791
HP:0100692	Increased corneal curvature	55857	KIZ	ORPHA:791
HP:0100692	Increased corneal curvature	64218	SEMA4A	ORPHA:791
HP:0100692	Increased corneal curvature	4901	NRL	ORPHA:791
HP:0100692	Increased corneal curvature	157657	CFAP418	ORPHA:791
HP:0100692	Increased corneal curvature	10594	PRPF8	ORPHA:791
HP:0100692	Increased corneal curvature	84100	ARL6	ORPHA:791
HP:0100692	Increased corneal curvature	6295	SAG	ORPHA:791
HP:0100692	Increased corneal curvature	79947	DHDDS	ORPHA:791
HP:0100692	Increased corneal curvature	81031	SLC2A10	OMIM:208050
HP:0100692	Increased corneal curvature	81031	SLC2A10	ORPHA:3342
HP:0100692	Increased corneal curvature	5351	PLOD1	OMIM:225400
HP:0100692	Increased corneal curvature	84627	ZNF469	OMIM:229200
HP:0100692	Increased corneal curvature	6935	ZEB1	OMIM:609141
HP:0100692	Increased corneal curvature	84168	ANTXR1	OMIM:230740
HP:0100692	Increased corneal curvature	84168	ANTXR1	ORPHA:2067
HP:0100692	Increased corneal curvature	30813	VSX1	OMIM:148300
HP:0100692	Increased corneal curvature	406960	MIR184	OMIM:614303
HP:0100692	Increased corneal curvature	63895	PIEZO2	OMIM:108145
HP:0100692	Increased corneal curvature	3265	HRAS	ORPHA:3071
HP:0100692	Increased corneal curvature	4010	LMX1B	OMIM:161200
HP:0100692	Increased corneal curvature	11107	PRDM5	OMIM:614170
HP:0100692	Increased corneal curvature	162	AP1B1	OMIM:242150
HP:0100692	Increased corneal curvature	10681	GNB5	ORPHA:542306
HP:0100692	Increased corneal curvature	113457	TUBA3D	OMIM:617928
HP:0100692	Increased corneal curvature	58495	OVOL2	ORPHA:98973
HP:0100692	Increased corneal curvature	79977	GRHL2	ORPHA:98973
HP:0100692	Increased corneal curvature	1296	COL8A2	ORPHA:98973
HP:0100693	Iridodonesis	2200	FBN1	OMIM:608328
HP:0100693	Iridodonesis	2200	FBN1	ORPHA:284979
HP:0100693	Iridodonesis	27151	CPAMD8	OMIM:617319
HP:0100693	Iridodonesis	91851	CHRDL1	OMIM:309300
HP:0100693	Iridodonesis	170691	ADAMTS17	OMIM:613195
HP:0100693	Iridodonesis	4053	LTBP2	OMIM:251750
HP:0100694	Tibial torsion	1299	COL9A3	OMIM:620022
HP:0100694	Tibial torsion	1280	COL2A1	OMIM:616583
HP:0100694	Tibial torsion	1836	SLC26A2	ORPHA:56304
HP:0100694	Tibial torsion	55315	SLC29A3	OMIM:602782
HP:0100694	Tibial torsion	1298	COL9A2	OMIM:600204
HP:0100694	Tibial torsion	1656	DDX6	OMIM:618653
HP:0100694	Tibial torsion	9158	FIBP	ORPHA:500095
HP:0100694	Tibial torsion	57479	PRR12	OMIM:619539
HP:0100694	Tibial torsion	9939	RBM8A	ORPHA:3320
HP:0100694	Tibial torsion	9939	RBM8A	OMIM:274000
HP:0100694	Tibial torsion	6335	SCN9A	ORPHA:33069
HP:0100694	Tibial torsion	6335	SCN9A	ORPHA:36387
HP:0100694	Tibial torsion	6326	SCN2A	ORPHA:33069
HP:0100694	Tibial torsion	6326	SCN2A	ORPHA:36387
HP:0100694	Tibial torsion	2554	GABRA1	ORPHA:33069
HP:0100694	Tibial torsion	6323	SCN1A	ORPHA:33069
HP:0100694	Tibial torsion	6323	SCN1A	ORPHA:36387
HP:0100694	Tibial torsion	6324	SCN1B	ORPHA:33069
HP:0100694	Tibial torsion	6324	SCN1B	ORPHA:36387
HP:0100694	Tibial torsion	57526	PCDH19	ORPHA:33069
HP:0100694	Tibial torsion	2566	GABRG2	ORPHA:33069
HP:0100694	Tibial torsion	2566	GABRG2	ORPHA:36387
HP:0100694	Tibial torsion	112755	STX1B	ORPHA:36387
HP:0100694	Tibial torsion	2563	GABRD	ORPHA:36387
HP:0100694	Tibial torsion	348980	HCN1	ORPHA:36387
HP:0100694	Tibial torsion	84059	ADGRV1	ORPHA:36387
HP:0100697	Neurofibrosarcoma	4763	NF1	OMIM:162200
HP:0100697	Neurofibrosarcoma	4763	NF1	ORPHA:363700
HP:0100697	Neurofibrosarcoma	4763	NF1	ORPHA:97685
HP:0100697	Neurofibrosarcoma	5604	MAP2K1	OMIM:163950
HP:0100697	Neurofibrosarcoma	5781	PTPN11	OMIM:163950
HP:0100697	Neurofibrosarcoma	673	BRAF	OMIM:163950
HP:0100698	Subcutaneous neurofibroma	4763	NF1	ORPHA:363700
HP:0100699	Scarring	5422	POLA1	OMIM:301220
HP:0100699	Scarring	54892	NCAPG2	OMIM:618460
HP:0100699	Scarring	85446	ZFHX2	OMIM:147430
HP:0100699	Scarring	59335	PRDM12	OMIM:616488
HP:0100699	Scarring	4358	MPV17	OMIM:256810
HP:0100699	Scarring	7045	TGFBI	OMIM:602082
HP:0100699	Scarring	7045	TGFBI	ORPHA:98964
HP:0100699	Scarring	55768	NGLY1	ORPHA:404454
HP:0100699	Scarring	4990	SIX6	OMIM:212550
HP:0100699	Scarring	11107	PRDM5	ORPHA:90354
HP:0100699	Scarring	92840	REEP6	ORPHA:791
HP:0100699	Scarring	6094	ROM1	ORPHA:791
HP:0100699	Scarring	6017	RLBP1	ORPHA:791
HP:0100699	Scarring	7401	CLRN1	ORPHA:791
HP:0100699	Scarring	24	ABCA4	ORPHA:791
HP:0100699	Scarring	130557	ZNF513	ORPHA:791
HP:0100699	Scarring	582	BBS1	ORPHA:791
HP:0100699	Scarring	92211	CDHR1	ORPHA:791
HP:0100699	Scarring	23568	ARL2BP	ORPHA:791
HP:0100699	Scarring	6121	RPE65	ORPHA:791
HP:0100699	Scarring	54806	AHI1	ORPHA:791
HP:0100699	Scarring	6101	RP1	ORPHA:791
HP:0100699	Scarring	3419	IDH3A	ORPHA:791
HP:0100699	Scarring	4751	NEK2	ORPHA:791
HP:0100699	Scarring	346007	EYS	ORPHA:791
HP:0100699	Scarring	8100	IFT88	ORPHA:791
HP:0100699	Scarring	23020	SNRNP200	ORPHA:791
HP:0100699	Scarring	762	CA4	ORPHA:791
HP:0100699	Scarring	138050	HGSNAT	ORPHA:791
HP:0100699	Scarring	196	AHR	ORPHA:791
HP:0100699	Scarring	3614	IMPDH1	ORPHA:791
HP:0100699	Scarring	123016	TTC8	ORPHA:791
HP:0100699	Scarring	6103	RPGR	ORPHA:791
HP:0100699	Scarring	1406	CRX	ORPHA:791
HP:0100699	Scarring	5148	PDE6G	ORPHA:791
HP:0100699	Scarring	26160	IFT172	ORPHA:791
HP:0100699	Scarring	26121	PRPF31	ORPHA:791
HP:0100699	Scarring	583	BBS2	ORPHA:791
HP:0100699	Scarring	4117	MAK	ORPHA:791
HP:0100699	Scarring	25794	FSCN2	ORPHA:791
HP:0100699	Scarring	375298	CERKL	ORPHA:791
HP:0100699	Scarring	3420	IDH3B	ORPHA:791
HP:0100699	Scarring	57670	KIAA1549	ORPHA:791
HP:0100699	Scarring	7275	TUB	ORPHA:791
HP:0100699	Scarring	24148	PRPF6	ORPHA:791
HP:0100699	Scarring	23418	CRB1	ORPHA:791
HP:0100699	Scarring	10461	MERTK	ORPHA:791
HP:0100699	Scarring	57709	SLC7A14	ORPHA:791
HP:0100699	Scarring	768206	PRCD	ORPHA:791
HP:0100699	Scarring	7399	USH2A	ORPHA:791
HP:0100699	Scarring	23370	ARHGEF18	ORPHA:791
HP:0100699	Scarring	5949	RBP3	ORPHA:791
HP:0100699	Scarring	6010	RHO	ORPHA:791
HP:0100699	Scarring	6100	RP9	ORPHA:791
HP:0100699	Scarring	10002	NR2E3	ORPHA:791
HP:0100699	Scarring	9227	LRAT	ORPHA:791
HP:0100699	Scarring	84140	FAM161A	ORPHA:791
HP:0100699	Scarring	55812	SPATA7	ORPHA:791
HP:0100699	Scarring	55624	POMGNT1	ORPHA:791
HP:0100699	Scarring	79797	ZNF408	ORPHA:791
HP:0100699	Scarring	403	ARL3	ORPHA:791
HP:0100699	Scarring	5145	PDE6A	ORPHA:791
HP:0100699	Scarring	10210	TOPORS	ORPHA:791
HP:0100699	Scarring	8842	PROM1	ORPHA:791
HP:0100699	Scarring	9128	PRPF4	ORPHA:791
HP:0100699	Scarring	145226	RDH12	ORPHA:791
HP:0100699	Scarring	50939	IMPG2	ORPHA:791
HP:0100699	Scarring	8481	OFD1	ORPHA:791
HP:0100699	Scarring	49855	SCAPER	ORPHA:791
HP:0100699	Scarring	9742	IFT140	ORPHA:791
HP:0100699	Scarring	2979	GUCA1B	ORPHA:791
HP:0100699	Scarring	1259	CNGA1	ORPHA:791
HP:0100699	Scarring	1258	CNGB1	ORPHA:791
HP:0100699	Scarring	60509	AGBL5	ORPHA:791
HP:0100699	Scarring	5961	PRPH2	ORPHA:791
HP:0100699	Scarring	388939	PCARE	ORPHA:791
HP:0100699	Scarring	7439	BEST1	ORPHA:791
HP:0100699	Scarring	9785	DHX38	ORPHA:791
HP:0100699	Scarring	7287	TULP1	ORPHA:791
HP:0100699	Scarring	5995	RGR	ORPHA:791
HP:0100699	Scarring	9129	PRPF3	ORPHA:791
HP:0100699	Scarring	55975	KLHL7	ORPHA:791
HP:0100699	Scarring	3617	IMPG1	ORPHA:791
HP:0100699	Scarring	94137	RP1L1	ORPHA:791
HP:0100699	Scarring	5158	PDE6B	ORPHA:791
HP:0100699	Scarring	6102	RP2	ORPHA:791
HP:0100699	Scarring	55857	KIZ	ORPHA:791
HP:0100699	Scarring	64218	SEMA4A	ORPHA:791
HP:0100699	Scarring	4901	NRL	ORPHA:791
HP:0100699	Scarring	157657	CFAP418	ORPHA:791
HP:0100699	Scarring	10594	PRPF8	ORPHA:791
HP:0100699	Scarring	84100	ARL6	ORPHA:791
HP:0100699	Scarring	6295	SAG	ORPHA:791
HP:0100699	Scarring	79947	DHDDS	ORPHA:791
HP:0100699	Scarring	55612	FERMT1	ORPHA:2908
HP:0100699	Scarring	84627	ZNF469	OMIM:229200
HP:0100699	Scarring	2050	EPHB4	ORPHA:90186
HP:0100699	Scarring	7020	TFAP2A	OMIM:113620
HP:0100699	Scarring	7020	TFAP2A	ORPHA:1297
HP:0100699	Scarring	4914	NTRK1	ORPHA:642
HP:0100699	Scarring	7046	TGFBR1	ORPHA:60030
HP:0100699	Scarring	10526	IPO8	ORPHA:60030
HP:0100699	Scarring	7048	TGFBR2	ORPHA:60030
HP:0100699	Scarring	23385	NCSTN	OMIM:142690
HP:0100699	Scarring	1371	CPOX	ORPHA:79273
HP:0100699	Scarring	1281	COL3A1	OMIM:130050
HP:0100699	Scarring	1281	COL3A1	ORPHA:286
HP:0100699	Scarring	1289	COL5A1	ORPHA:287
HP:0100699	Scarring	1289	COL5A1	OMIM:130000
HP:0100699	Scarring	1290	COL5A2	ORPHA:287
HP:0100699	Scarring	1290	COL5A2	OMIM:130010
HP:0100699	Scarring	1303	COL12A1	ORPHA:610
HP:0100699	Scarring	1291	COL6A1	ORPHA:610
HP:0100699	Scarring	1292	COL6A2	ORPHA:610
HP:0100699	Scarring	1293	COL6A3	ORPHA:610
HP:0100699	Scarring	1075	CTSC	ORPHA:678
HP:0100699	Scarring	91252	SLC39A13	OMIM:612350
HP:0100699	Scarring	11285	B4GALT7	ORPHA:75496
HP:0100699	Scarring	11285	B4GALT7	OMIM:130070
HP:0100699	Scarring	4035	LRP1	ORPHA:79100
HP:0100699	Scarring	4312	MMP1	ORPHA:79408
HP:0100699	Scarring	4312	MMP1	OMIM:226600
HP:0100699	Scarring	715	C1R	OMIM:130080
HP:0100699	Scarring	715	C1R	ORPHA:75392
HP:0100699	Scarring	55033	FKBP14	OMIM:614557
HP:0100699	Scarring	55033	FKBP14	ORPHA:300179
HP:0100699	Scarring	51816	ADA2	OMIM:182410
HP:0100699	Scarring	126792	B3GALT6	ORPHA:536467
HP:0100699	Scarring	126792	B3GALT6	OMIM:615349
HP:0100699	Scarring	716	C1S	ORPHA:75392
HP:0100699	Scarring	165	AEBP1	OMIM:618000
HP:0100699	Scarring	29940	DSE	ORPHA:2953
HP:0100699	Scarring	29940	DSE	OMIM:615539
HP:0100699	Scarring	4088	SMAD3	OMIM:613795
HP:0100699	Scarring	5351	PLOD1	ORPHA:1900
HP:0100699	Scarring	7148	TNXB	OMIM:606408
HP:0100699	Scarring	146206	CARMIL2	OMIM:618131
HP:0100699	Scarring	667	DST	OMIM:615425
HP:0100699	Scarring	10804	GJB6	ORPHA:477
HP:0100699	Scarring	2706	GJB2	ORPHA:477
HP:0100699	Scarring	2706	GJB2	OMIM:602540
HP:0100699	Scarring	51360	MBTPS2	OMIM:308800
HP:0100699	Scarring	1308	COL17A1	OMIM:619787
HP:0100699	Scarring	1308	COL17A1	ORPHA:251393
HP:0100699	Scarring	1308	COL17A1	ORPHA:79402
HP:0100699	Scarring	5339	PLEC	OMIM:226670
HP:0100699	Scarring	5339	PLEC	ORPHA:158684
HP:0100699	Scarring	3691	ITGB4	ORPHA:158684
HP:0100699	Scarring	3691	ITGB4	ORPHA:251393
HP:0100699	Scarring	3691	ITGB4	ORPHA:79402
HP:0100699	Scarring	10682	EBP	ORPHA:35173
HP:0100699	Scarring	126695	KDF1	OMIM:617337
HP:0100699	Scarring	387	RHOA	OMIM:618727
HP:0100699	Scarring	9076	CLDN1	ORPHA:59303
HP:0100699	Scarring	3909	LAMA3	ORPHA:79402
HP:0100699	Scarring	3918	LAMC2	ORPHA:79402
HP:0100699	Scarring	3914	LAMB3	ORPHA:79402
HP:0100699	Scarring	1387	CREBBP	ORPHA:353281
HP:0100699	Scarring	1387	CREBBP	OMIM:180849
HP:0100699	Scarring	1387	CREBBP	ORPHA:353277
HP:0100699	Scarring	4854	NOTCH3	OMIM:130720
HP:0100699	Scarring	5159	PDGFRB	OMIM:601812
HP:0100699	Scarring	23592	LEMD3	ORPHA:166119
HP:0100699	Scarring	2033	EP300	OMIM:180849
HP:0100699	Scarring	2033	EP300	ORPHA:353284
HP:0100699	Scarring	6885	MAP3K7	OMIM:617137
HP:0100699	Scarring	6885	MAP3K7	ORPHA:1826
HP:0100699	Scarring	324	APC	OMIM:175100
HP:0100699	Scarring	324	APC	ORPHA:79665
HP:0100699	Scarring	2316	FLNA	ORPHA:1826
HP:0100699	Scarring	4952	OCRL	OMIM:309000
HP:0100699	Scarring	1893	ECM1	ORPHA:530
HP:0100699	Scarring	1893	ECM1	OMIM:247100
HP:0100699	Scarring	538	ATP7A	ORPHA:198
HP:0100699	Scarring	5317	PKP1	ORPHA:158668
HP:0100699	Scarring	340665	CYP26C1	ORPHA:398189
HP:0100699	Scarring	9719	ADAMTSL2	ORPHA:1901
HP:0100699	Scarring	9509	ADAMTS2	ORPHA:1901
HP:0100699	Scarring	1161	ERCC8	ORPHA:90321
HP:0100699	Scarring	1161	ERCC8	ORPHA:90322
HP:0100699	Scarring	2072	ERCC4	ORPHA:90321
HP:0100699	Scarring	2074	ERCC6	ORPHA:90321
HP:0100699	Scarring	2074	ERCC6	ORPHA:90322
HP:0100699	Scarring	7389	UROD	ORPHA:95159
HP:0100699	Scarring	2067	ERCC1	ORPHA:90322
HP:0100699	Scarring	113189	CHST14	OMIM:601776
HP:0100699	Scarring	1294	COL7A1	ORPHA:89843
HP:0100699	Scarring	30008	EFEMP2	OMIM:614437
HP:0100699	Scarring	4878	NPPA	OMIM:615745
HP:0100699	Scarring	8517	IKBKG	OMIM:308300
HP:0100699	Scarring	3852	KRT5	ORPHA:79396
HP:0100699	Scarring	3861	KRT14	ORPHA:79396
HP:0100699	Scarring	5498	PPOX	ORPHA:79473
HP:0100699	Scarring	7390	UROS	ORPHA:79277
HP:0100699	Scarring	2623	GATA1	ORPHA:79277
HP:0100699	Scarring	56244	BTNL2	ORPHA:797
HP:0100699	Scarring	3123	HLA-DRB1	ORPHA:797
HP:0100699	Scarring	1278	COL1A2	ORPHA:1899
HP:0100699	Scarring	1277	COL1A1	ORPHA:1899
HP:0100699	Scarring	55343	SLC35C1	ORPHA:99843
HP:0100699	Scarring	22861	NLRP1	OMIM:618803
HP:0100699	Scarring	4982	TNFRSF11B	OMIM:239000
HP:0100699	Scarring	3105	HLA-A	ORPHA:179
HP:0100699	Scarring	3426	CFI	OMIM:615439
HP:0100699	Scarring	6452	SH3BP2	OMIM:118400
HP:0100699	Scarring	64802	NMNAT1	OMIM:608553
HP:0011163	Focal sensory seizure with somatosensory features	11277	TREX1	ORPHA:247691
HP:0011161	Focal sensory seizure with olfactory features	5649	RELN	OMIM:600512
HP:0011161	Focal sensory seizure with olfactory features	64780	MICAL1	OMIM:600512
HP:0011161	Focal sensory seizure with olfactory features	9211	LGI1	OMIM:600512
HP:0011167	Focal tonic seizure	3785	KCNQ2	ORPHA:1949
HP:0011167	Focal tonic seizure	3785	KCNQ2	ORPHA:306
HP:0011167	Focal tonic seizure	3786	KCNQ3	ORPHA:1949
HP:0011167	Focal tonic seizure	3786	KCNQ3	ORPHA:306
HP:0011167	Focal tonic seizure	2892	GRIA3	OMIM:300699
HP:0011167	Focal tonic seizure	2775	GNAO1	OMIM:615473
HP:0011167	Focal tonic seizure	23241	PACS2	OMIM:618067
HP:0011167	Focal tonic seizure	773	CACNA1A	OMIM:617106
HP:0011167	Focal tonic seizure	6506	SLC1A2	OMIM:617105
HP:0011167	Focal tonic seizure	6334	SCN8A	OMIM:614558
HP:0011167	Focal tonic seizure	6334	SCN8A	ORPHA:306
HP:0011167	Focal tonic seizure	1183	CLCN4	ORPHA:485350
HP:0011167	Focal tonic seizure	2019	EN1	OMIM:619218
HP:0011167	Focal tonic seizure	56270	WDR45B	OMIM:617977
HP:0011167	Focal tonic seizure	6326	SCN2A	ORPHA:306
HP:0011167	Focal tonic seizure	112476	PRRT2	ORPHA:306
HP:0011167	Focal tonic seizure	5290	PIK3CA	ORPHA:99802
HP:0011167	Focal tonic seizure	2475	MTOR	ORPHA:99802
HP:0011167	Focal tonic seizure	10000	AKT3	ORPHA:99802
HP:0011167	Focal tonic seizure	79751	SLC25A22	ORPHA:1935
HP:0011167	Focal tonic seizure	150094	SIK1	ORPHA:1935
HP:0011167	Focal tonic seizure	55768	NGLY1	ORPHA:404454
HP:0011167	Focal tonic seizure	5813	PURA	ORPHA:314655
HP:0011168	Focal seizure with eyelid myoclonia	79751	SLC25A22	ORPHA:1935
HP:0011168	Focal seizure with eyelid myoclonia	150094	SIK1	ORPHA:1935
HP:0011168	Focal seizure with eyelid myoclonia	79583	TMEM231	ORPHA:2752
HP:0011169	Generalized clonic seizure	6323	SCN1A	OMIM:607208
HP:0011169	Generalized clonic seizure	6323	SCN1A	ORPHA:33069
HP:0011169	Generalized clonic seizure	57526	PCDH19	ORPHA:101039
HP:0011169	Generalized clonic seizure	57526	PCDH19	ORPHA:33069
HP:0011169	Generalized clonic seizure	197322	ACSF3	ORPHA:289504
HP:0011169	Generalized clonic seizure	197322	ACSF3	OMIM:614265
HP:0011169	Generalized clonic seizure	6334	SCN8A	OMIM:614558
HP:0011169	Generalized clonic seizure	6334	SCN8A	ORPHA:306
HP:0011169	Generalized clonic seizure	8818	DPM2	ORPHA:329178
HP:0011169	Generalized clonic seizure	5660	PSAP	OMIM:611721
HP:0011169	Generalized clonic seizure	6304	SATB1	OMIM:619229
HP:0011169	Generalized clonic seizure	2903	GRIN2A	ORPHA:98818
HP:0011169	Generalized clonic seizure	6326	SCN2A	ORPHA:306
HP:0011169	Generalized clonic seizure	6326	SCN2A	ORPHA:1934
HP:0011169	Generalized clonic seizure	6326	SCN2A	ORPHA:33069
HP:0011169	Generalized clonic seizure	112476	PRRT2	ORPHA:306
HP:0011169	Generalized clonic seizure	3785	KCNQ2	ORPHA:306
HP:0011169	Generalized clonic seizure	3786	KCNQ3	ORPHA:306
HP:0011169	Generalized clonic seizure	6792	CDKL5	ORPHA:1934
HP:0011169	Generalized clonic seizure	3736	KCNA1	ORPHA:1934
HP:0011169	Generalized clonic seizure	9091	PIGQ	ORPHA:1934
HP:0011169	Generalized clonic seizure	2775	GNAO1	ORPHA:1934
HP:0011169	Generalized clonic seizure	81603	TRIM8	ORPHA:1934
HP:0011169	Generalized clonic seizure	2902	GRIN1	ORPHA:1934
HP:0011169	Generalized clonic seizure	79751	SLC25A22	ORPHA:1934
HP:0011169	Generalized clonic seizure	150094	SIK1	ORPHA:1934
HP:0011169	Generalized clonic seizure	8573	CASK	ORPHA:1934
HP:0011169	Generalized clonic seizure	23312	DMXL2	ORPHA:1934
HP:0011169	Generalized clonic seizure	2917	GRM7	ORPHA:1934
HP:0011169	Generalized clonic seizure	170302	ARX	ORPHA:1934
HP:0011169	Generalized clonic seizure	11284	PNKP	ORPHA:1934
HP:0011169	Generalized clonic seizure	51227	PIGP	ORPHA:1934
HP:0011169	Generalized clonic seizure	6324	SCN1B	ORPHA:1934
HP:0011169	Generalized clonic seizure	6324	SCN1B	ORPHA:33069
HP:0011169	Generalized clonic seizure	4761	NEUROD2	ORPHA:1934
HP:0011169	Generalized clonic seizure	6335	SCN9A	ORPHA:33069
HP:0011169	Generalized clonic seizure	2554	GABRA1	ORPHA:33069
HP:0011169	Generalized clonic seizure	2566	GABRG2	ORPHA:33069
HP:0008107	Plantar crease between first and second toes	1387	CREBBP	OMIM:180849
HP:0008107	Plantar crease between first and second toes	2033	EP300	OMIM:180849
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	7476	WNT7A	OMIM:276820
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	64327	LMBR1	OMIM:200500
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	3930	LBR	OMIM:215140
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	10013	HDAC6	OMIM:300863
HP:0008108	Advanced tarsal ossification	23169	SLC35D1	OMIM:269250
HP:0008108	Advanced tarsal ossification	23169	SLC35D1	ORPHA:3144
HP:0008108	Advanced tarsal ossification	3636	INPPL1	ORPHA:3144
HP:0008108	Advanced tarsal ossification	5745	PTH1R	OMIM:215045
HP:0008108	Advanced tarsal ossification	124583	CANT1	OMIM:251450
HP:0008110	Equinovarus deformity	1836	SLC26A2	ORPHA:56304
HP:0008110	Equinovarus deformity	4010	LMX1B	ORPHA:2614
HP:0008110	Equinovarus deformity	23230	VPS13A	ORPHA:2388
HP:0008110	Equinovarus deformity	5376	PMP22	ORPHA:90658
HP:0008110	Equinovarus deformity	55681	SCYL2	ORPHA:1143
HP:0008110	Equinovarus deformity	84570	COL25A1	ORPHA:1143
HP:0008110	Equinovarus deformity	57222	ERGIC1	ORPHA:1143
HP:0008110	Equinovarus deformity	2074	ERCC6	OMIM:278800
HP:0008110	Equinovarus deformity	3032	HADHB	ORPHA:746
HP:0008110	Equinovarus deformity	3030	HADHA	ORPHA:746
HP:0008110	Equinovarus deformity	10667	FARS2	ORPHA:466722
HP:0008110	Equinovarus deformity	526	ATP6V1B2	ORPHA:79500
HP:0008110	Equinovarus deformity	57465	TBC1D24	ORPHA:79500
HP:0008111	Broad distal hallux	2263	FGFR2	OMIM:101200
HP:0008112	Plantar flexion contracture	65055	REEP1	OMIM:620011
HP:0008113	Multiple plantar creases	23545	ATP6V0A2	ORPHA:2834
HP:0008113	Multiple plantar creases	673	BRAF	OMIM:115150
HP:0008114	Metatarsal diaphyseal endosteal sclerosis	4041	LRP5	OMIM:144750
HP:0008115	Clinodactyly of the 3rd toe	84342	COG8	OMIM:611182
HP:0008116	Flexion limitation of toes	9987	HNRNPDL	OMIM:609115
HP:0008117	Shortening of the talar neck	5251	PHEX	OMIM:307800
HP:0008117	Shortening of the talar neck	5251	PHEX	ORPHA:89936
HP:0008362	Aplasia/Hypoplasia of the hallux	51776	MAP3K20	ORPHA:488232
HP:0008362	Aplasia/Hypoplasia of the hallux	5744	PTHLH	ORPHA:93387
HP:0008362	Aplasia/Hypoplasia of the hallux	3239	HOXD13	ORPHA:93387
HP:0008362	Aplasia/Hypoplasia of the hallux	55697	VAC14	ORPHA:3472
HP:0008362	Aplasia/Hypoplasia of the hallux	658	BMPR1B	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	658	BMPR1B	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	8200	GDF5	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	8200	GDF5	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	650	BMP2	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	90	ACVR1	OMIM:135100
HP:0008362	Aplasia/Hypoplasia of the hallux	90	ACVR1	ORPHA:337
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93260
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93258
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93259
HP:0008362	Aplasia/Hypoplasia of the hallux	50515	CHST11	OMIM:618167
HP:0008362	Aplasia/Hypoplasia of the hallux	4256	MGP	OMIM:245150
HP:0008362	Aplasia/Hypoplasia of the hallux	22856	CHSY1	ORPHA:363417
HP:0008362	Aplasia/Hypoplasia of the hallux	7994	KAT6A	OMIM:616268
HP:0008362	Aplasia/Hypoplasia of the hallux	3209	HOXA13	OMIM:140000
HP:0008362	Aplasia/Hypoplasia of the hallux	3209	HOXA13	ORPHA:2438
HP:0008362	Aplasia/Hypoplasia of the hallux	2260	FGFR1	ORPHA:93258
HP:0008362	Aplasia/Hypoplasia of the hallux	2697	GJA1	ORPHA:2710
HP:0008362	Aplasia/Hypoplasia of the hallux	10060	ABCC9	OMIM:239850
HP:0008362	Aplasia/Hypoplasia of the hallux	10060	ABCC9	ORPHA:1517
HP:0008362	Aplasia/Hypoplasia of the hallux	9241	NOG	OMIM:186500
HP:0008362	Aplasia/Hypoplasia of the hallux	22827	PUF60	ORPHA:508488
HP:0008362	Aplasia/Hypoplasia of the hallux	727857	BHLHA9	ORPHA:157801
HP:0008362	Aplasia/Hypoplasia of the hallux	10815	CPLX1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	10815	CPLX1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	54872	PIGG	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	7469	NELFA	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	1487	CTBP1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	1487	CTBP1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	3954	LETM1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	3954	LETM1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	7468	NSD2	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	7468	NSD2	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	9775	EIF4A3	OMIM:268305
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	OMIM:311300
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	OMIM:304120
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	ORPHA:90650
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	ORPHA:90652
HP:0008362	Aplasia/Hypoplasia of the hallux	57167	SALL4	ORPHA:959
HP:0008362	Aplasia/Hypoplasia of the hallux	53834	FGFRL1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	3764	KCNJ8	ORPHA:1517
HP:0008362	Aplasia/Hypoplasia of the hallux	2239	GPC4	ORPHA:2662
HP:0008362	Aplasia/Hypoplasia of the hallux	3549	IHH	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	9896	FIG4	OMIM:216340
HP:0008362	Aplasia/Hypoplasia of the hallux	2737	GLI3	ORPHA:93322
HP:0008119	Deformed tarsal bones	7169	TPM2	OMIM:108120
HP:0008119	Deformed tarsal bones	9839	ZEB2	ORPHA:261537
HP:0008119	Deformed tarsal bones	9839	ZEB2	ORPHA:261552
HP:0008119	Deformed tarsal bones	284058	KANSL1	ORPHA:363965
HP:0008119	Deformed tarsal bones	284058	KANSL1	ORPHA:363958
HP:0008119	Deformed tarsal bones	1278	COL1A2	ORPHA:230851
HP:0008119	Deformed tarsal bones	1278	COL1A2	OMIM:225320
HP:0008119	Deformed tarsal bones	3236	HOXD10	OMIM:192950
HP:0008119	Deformed tarsal bones	259232	NALCN	OMIM:616266
HP:0008119	Deformed tarsal bones	9427	ECEL1	OMIM:615065
HP:0008119	Deformed tarsal bones	92949	ADAMTSL1	ORPHA:521445
HP:0008119	Deformed tarsal bones	2146	EZH2	OMIM:277590
HP:0008119	Deformed tarsal bones	4233	MET	OMIM:620019
HP:0008119	Deformed tarsal bones	7136	TNNI2	OMIM:601680
HP:0008119	Deformed tarsal bones	10159	ATP6AP2	ORPHA:93952
HP:0008119	Deformed tarsal bones	26227	PHGDH	OMIM:256520
HP:0008119	Deformed tarsal bones	8200	GDF5	OMIM:228900
HP:0031574	Orbital cleft	23384	SPECC1L	OMIM:600251
HP:0031576	Tessier number 4 facial cleft	23384	SPECC1L	OMIM:600251
HP:0011170	Generalized myoclonic-atonic seizure	23261	CAMTA1	OMIM:614756
HP:0011170	Generalized myoclonic-atonic seizure	55753	OGDHL	OMIM:619701
HP:0011170	Generalized myoclonic-atonic seizure	9969	MED13	OMIM:618009
HP:0011170	Generalized myoclonic-atonic seizure	1173	AP2M1	OMIM:618587
HP:0011170	Generalized myoclonic-atonic seizure	1173	AP2M1	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	6529	SLC6A1	OMIM:616421
HP:0011170	Generalized myoclonic-atonic seizure	6529	SLC6A1	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	6513	SLC2A1	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	8831	SYNGAP1	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	6323	SCN1A	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	340533	NEXMIF	ORPHA:1942
HP:0011170	Generalized myoclonic-atonic seizure	1106	CHD2	ORPHA:1942
HP:0011171	Simple febrile seizure	283989	TSEN54	ORPHA:2524
HP:0011171	Simple febrile seizure	116461	TSEN15	ORPHA:2524
HP:0011171	Simple febrile seizure	79042	TSEN34	ORPHA:2524
HP:0011171	Simple febrile seizure	80746	TSEN2	ORPHA:2524
HP:0011171	Simple febrile seizure	51091	SEPSECS	ORPHA:2524
HP:0011171	Simple febrile seizure	10157	AASS	ORPHA:2203
HP:0011171	Simple febrile seizure	6328	SCN3A	OMIM:617935
HP:0011171	Simple febrile seizure	3785	KCNQ2	ORPHA:1949
HP:0011171	Simple febrile seizure	3785	KCNQ2	ORPHA:306
HP:0011171	Simple febrile seizure	3786	KCNQ3	ORPHA:1949
HP:0011171	Simple febrile seizure	3786	KCNQ3	ORPHA:306
HP:0011171	Simple febrile seizure	10815	CPLX1	ORPHA:352582
HP:0011171	Simple febrile seizure	57465	TBC1D24	ORPHA:352582
HP:0011171	Simple febrile seizure	6334	SCN8A	ORPHA:306
HP:0011171	Simple febrile seizure	6326	SCN2A	ORPHA:306
HP:0011171	Simple febrile seizure	112476	PRRT2	ORPHA:306
HP:0011171	Simple febrile seizure	51322	WAC	ORPHA:466950
HP:0011171	Simple febrile seizure	1859	DYRK1A	ORPHA:464311
HP:0011171	Simple febrile seizure	6513	SLC2A1	ORPHA:1942
HP:0011171	Simple febrile seizure	8831	SYNGAP1	ORPHA:1942
HP:0011171	Simple febrile seizure	1173	AP2M1	ORPHA:1942
HP:0011171	Simple febrile seizure	6323	SCN1A	ORPHA:1942
HP:0011171	Simple febrile seizure	340533	NEXMIF	ORPHA:1942
HP:0011171	Simple febrile seizure	1106	CHD2	ORPHA:1942
HP:0011171	Simple febrile seizure	6529	SLC6A1	ORPHA:1942
HP:0011171	Simple febrile seizure	8131	NPRL3	ORPHA:98820
HP:0011171	Simple febrile seizure	10641	NPRL2	ORPHA:98820
HP:0011171	Simple febrile seizure	9681	DEPDC5	ORPHA:98820
HP:0011172	Complex febrile seizure	57526	PCDH19	ORPHA:101039
HP:0011172	Complex febrile seizure	57526	PCDH19	ORPHA:33069
HP:0011172	Complex febrile seizure	25839	COG4	ORPHA:263501
HP:0011172	Complex febrile seizure	84188	FAR1	OMIM:619338
HP:0011172	Complex febrile seizure	5138	PDE2A	ORPHA:31709
HP:0011172	Complex febrile seizure	6334	SCN8A	ORPHA:31709
HP:0011172	Complex febrile seizure	112476	PRRT2	ORPHA:31709
HP:0011172	Complex febrile seizure	112476	PRRT2	ORPHA:569
HP:0011172	Complex febrile seizure	6335	SCN9A	ORPHA:33069
HP:0011172	Complex febrile seizure	6326	SCN2A	ORPHA:33069
HP:0011172	Complex febrile seizure	2554	GABRA1	ORPHA:33069
HP:0011172	Complex febrile seizure	6323	SCN1A	ORPHA:33069
HP:0011172	Complex febrile seizure	6323	SCN1A	ORPHA:569
HP:0011172	Complex febrile seizure	6324	SCN1B	ORPHA:33069
HP:0011172	Complex febrile seizure	2566	GABRG2	ORPHA:33069
HP:0011172	Complex febrile seizure	135	ADORA2A	ORPHA:363549
HP:0011172	Complex febrile seizure	773	CACNA1A	ORPHA:569
HP:0011172	Complex febrile seizure	477	ATP1A2	ORPHA:569
HP:0011172	Complex febrile seizure	8604	SLC25A12	OMIM:612949
HP:0011174	Focal hyperkinetic seizure	1137	CHRNA4	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	1135	CHRNA2	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	57010	CABP4	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	1141	CHRNB2	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	57582	KCNT1	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	1392	CRH	ORPHA:98784
HP:0011174	Focal hyperkinetic seizure	9681	DEPDC5	ORPHA:98784
HP:0011176	EEG with constitutional variants	5621	PRNP	ORPHA:282166
HP:0011176	EEG with constitutional variants	2581	GALC	ORPHA:206443
HP:0001848	Calcaneovalgus deformity	7169	TPM2	OMIM:108120
HP:0001848	Calcaneovalgus deformity	9839	ZEB2	ORPHA:261537
HP:0001848	Calcaneovalgus deformity	9839	ZEB2	ORPHA:261552
HP:0001848	Calcaneovalgus deformity	284058	KANSL1	ORPHA:363965
HP:0001848	Calcaneovalgus deformity	284058	KANSL1	ORPHA:363958
HP:0001848	Calcaneovalgus deformity	1278	COL1A2	ORPHA:230851
HP:0001848	Calcaneovalgus deformity	1278	COL1A2	OMIM:225320
HP:0001848	Calcaneovalgus deformity	3236	HOXD10	OMIM:192950
HP:0001848	Calcaneovalgus deformity	259232	NALCN	OMIM:616266
HP:0001848	Calcaneovalgus deformity	9427	ECEL1	OMIM:615065
HP:0001848	Calcaneovalgus deformity	92949	ADAMTSL1	ORPHA:521445
HP:0001848	Calcaneovalgus deformity	2146	EZH2	OMIM:277590
HP:0001848	Calcaneovalgus deformity	4233	MET	OMIM:620019
HP:0001848	Calcaneovalgus deformity	7136	TNNI2	OMIM:601680
HP:0001848	Calcaneovalgus deformity	10159	ATP6AP2	ORPHA:93952
HP:0001848	Calcaneovalgus deformity	26227	PHGDH	OMIM:256520
HP:0008122	Calcaneonavicular fusion	2260	FGFR1	OMIM:123150
HP:0008122	Calcaneonavicular fusion	2263	FGFR2	OMIM:123150
HP:0008124	Talipes calcaneovarus	4010	LMX1B	ORPHA:2614
HP:0008124	Talipes calcaneovarus	5376	PMP22	ORPHA:90658
HP:0008124	Talipes calcaneovarus	8242	KDM5C	OMIM:300534
HP:0008124	Talipes calcaneovarus	2200	FBN1	ORPHA:284979
HP:0008125	Second metatarsal posteriorly placed	2074	ERCC6	OMIM:214150
HP:0005830	Flexion contracture of toe	1146	CHRNG	OMIM:265000
HP:0005830	Flexion contracture of toe	2316	FLNA	OMIM:300244
HP:0005830	Flexion contracture of toe	1832	DSP	ORPHA:158687
HP:0005830	Flexion contracture of toe	3728	JUP	ORPHA:158687
HP:0005830	Flexion contracture of toe	91179	SCARF2	OMIM:600920
HP:0005830	Flexion contracture of toe	63895	PIEZO2	OMIM:114300
HP:0005830	Flexion contracture of toe	29895	MYL11	OMIM:619110
HP:0005830	Flexion contracture of toe	2737	GLI3	OMIM:175700
HP:0005830	Flexion contracture of toe	2261	FGFR3	OMIM:610474
HP:0005830	Flexion contracture of toe	10216	PRG4	ORPHA:2848
HP:0005830	Flexion contracture of toe	84295	PHF6	ORPHA:127
HP:0005830	Flexion contracture of toe	2273	FHL1	OMIM:300280
HP:0005830	Flexion contracture of toe	4313	MMP2	OMIM:259600
HP:0005830	Flexion contracture of toe	139285	AMER1	OMIM:300373
HP:0005830	Flexion contracture of toe	11160	ERLIN2	ORPHA:209951
HP:0005830	Flexion contracture of toe	55315	SLC29A3	OMIM:602782
HP:0005830	Flexion contracture of toe	2200	FBN1	OMIM:608328
HP:0005830	Flexion contracture of toe	23556	PIGN	ORPHA:280633
HP:0005830	Flexion contracture of toe	22978	NT5C2	ORPHA:320396
HP:0005830	Flexion contracture of toe	64127	NOD2	OMIM:186580
HP:0005830	Flexion contracture of toe	4621	MYH3	OMIM:193700
HP:0005830	Flexion contracture of toe	23102	TBC1D2B	OMIM:619323
HP:0005830	Flexion contracture of toe	3977	LIFR	OMIM:601559
HP:0005830	Flexion contracture of toe	7043	TGFB3	OMIM:615582
HP:0005830	Flexion contracture of toe	1984	EIF5A	OMIM:619376
HP:0005830	Flexion contracture of toe	5696	PSMB8	OMIM:256040
HP:0005830	Flexion contracture of toe	3339	HSPG2	OMIM:255800
HP:0005830	Flexion contracture of toe	3339	HSPG2	ORPHA:800
HP:0005830	Flexion contracture of toe	2067	ERCC1	OMIM:610758
HP:0005830	Flexion contracture of toe	54880	BCOR	ORPHA:2712
HP:0005830	Flexion contracture of toe	10526	IPO8	OMIM:619472
HP:0005830	Flexion contracture of toe	5528	PPP2R5D	ORPHA:457279
HP:0031585	Tessier number 13 facial cleft	60529	ALX4	OMIM:613451
HP:0011182	Interictal epileptiform activity	401474	SAMD12	OMIM:601068
HP:0011182	Interictal epileptiform activity	57465	TBC1D24	ORPHA:352596
HP:0011182	Interictal epileptiform activity	56910	STARD7	OMIM:607876
HP:0011182	Interictal epileptiform activity	27286	SRPX2	ORPHA:1945
HP:0011182	Interictal epileptiform activity	29968	PSAT1	ORPHA:284417
HP:0011182	Interictal epileptiform activity	84992	PIGY	ORPHA:247262
HP:0011182	Interictal epileptiform activity	84720	PIGO	ORPHA:247262
HP:0011182	Interictal epileptiform activity	93210	PGAP3	ORPHA:247262
HP:0011182	Interictal epileptiform activity	284098	PIGW	ORPHA:247262
HP:0011182	Interictal epileptiform activity	27315	PGAP2	ORPHA:247262
HP:0011182	Interictal epileptiform activity	55650	PIGV	ORPHA:247262
HP:0011182	Interictal epileptiform activity	9487	PIGL	ORPHA:247262
HP:0011182	Interictal epileptiform activity	10297	APC2	OMIM:617169
HP:0011182	Interictal epileptiform activity	3747	KCNC2	OMIM:619913
HP:0011182	Interictal epileptiform activity	55689	YEATS2	OMIM:615127
HP:0011182	Interictal epileptiform activity	7532	YWHAG	OMIM:617665
HP:0011182	Interictal epileptiform activity	60482	SLC5A7	ORPHA:98914
HP:0011182	Interictal epileptiform activity	4649	MYO9A	ORPHA:98914
HP:0011182	Interictal epileptiform activity	1305	COL13A1	ORPHA:98914
HP:0011182	Interictal epileptiform activity	1103	CHAT	ORPHA:98914
HP:0011182	Interictal epileptiform activity	6576	SLC25A1	ORPHA:98914
HP:0011182	Interictal epileptiform activity	6843	VAMP1	ORPHA:98914
HP:0011182	Interictal epileptiform activity	375790	AGRN	ORPHA:98914
HP:0011182	Interictal epileptiform activity	127833	SYT2	ORPHA:98914
HP:0011182	Interictal epileptiform activity	6572	SLC18A3	ORPHA:98914
HP:0011182	Interictal epileptiform activity	6616	SNAP25	ORPHA:98914
HP:0011182	Interictal epileptiform activity	2563	GABRD	ORPHA:307
HP:0011182	Interictal epileptiform activity	1181	CLCN2	ORPHA:307
HP:0011182	Interictal epileptiform activity	22858	CILK1	ORPHA:307
HP:0011182	Interictal epileptiform activity	785	CACNB4	ORPHA:307
HP:0011182	Interictal epileptiform activity	785	CACNB4	OMIM:607682
HP:0011182	Interictal epileptiform activity	9289	ADGRG1	ORPHA:98889
HP:0011182	Interictal epileptiform activity	5297	PI4KA	ORPHA:98889
HP:0011182	Interictal epileptiform activity	144165	PRICKLE1	ORPHA:308
HP:0011182	Interictal epileptiform activity	950	SCARB2	ORPHA:308
HP:0011182	Interictal epileptiform activity	3155	HMGCL	ORPHA:20
HP:0011182	Interictal epileptiform activity	8243	SMC1A	OMIM:301044
HP:0011182	Interictal epileptiform activity	199857	ALG14	OMIM:619036
HP:0011182	Interictal epileptiform activity	9853	RUSC2	OMIM:617773
HP:0011182	Interictal epileptiform activity	343450	KCNT2	OMIM:617771
HP:0011182	Interictal epileptiform activity	10564	ARFGEF2	OMIM:608097
HP:0011182	Interictal epileptiform activity	1798	DPAGT1	OMIM:608093
HP:0011182	Interictal epileptiform activity	1798	DPAGT1	ORPHA:86309
HP:0011182	Interictal epileptiform activity	9526	MPDU1	OMIM:609180
HP:0011182	Interictal epileptiform activity	9526	MPDU1	ORPHA:79323
HP:0011182	Interictal epileptiform activity	6328	SCN3A	OMIM:617938
HP:0011182	Interictal epileptiform activity	6328	SCN3A	ORPHA:442835
HP:0011182	Interictal epileptiform activity	8496	PPFIBP1	OMIM:620024
HP:0011182	Interictal epileptiform activity	170302	ARX	OMIM:308350
HP:0011182	Interictal epileptiform activity	170302	ARX	ORPHA:3451
HP:0011182	Interictal epileptiform activity	170302	ARX	ORPHA:1934
HP:0011182	Interictal epileptiform activity	2258	FGF13	OMIM:301058
HP:0011182	Interictal epileptiform activity	2258	FGF13	ORPHA:442835
HP:0011182	Interictal epileptiform activity	51112	TRAPPC12	ORPHA:500144
HP:0011182	Interictal epileptiform activity	51112	TRAPPC12	OMIM:617669
HP:0011182	Interictal epileptiform activity	26275	HIBCH	ORPHA:88639
HP:0011182	Interictal epileptiform activity	64801	ARV1	OMIM:617020
HP:0011182	Interictal epileptiform activity	64801	ARV1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	79868	ALG13	OMIM:300884
HP:0011182	Interictal epileptiform activity	79868	ALG13	ORPHA:324422
HP:0011182	Interictal epileptiform activity	8867	SYNJ1	OMIM:617389
HP:0011182	Interictal epileptiform activity	8867	SYNJ1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	10659	CELF2	OMIM:619561
HP:0011182	Interictal epileptiform activity	10659	CELF2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	51506	UFC1	OMIM:618076
HP:0011182	Interictal epileptiform activity	3745	KCNB1	OMIM:616056
HP:0011182	Interictal epileptiform activity	3745	KCNB1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	6487	ST3GAL3	OMIM:615006
HP:0011182	Interictal epileptiform activity	6487	ST3GAL3	ORPHA:3451
HP:0011182	Interictal epileptiform activity	112939	NACC1	ORPHA:500545
HP:0011182	Interictal epileptiform activity	55780	ERMARD	ORPHA:75857
HP:0011182	Interictal epileptiform activity	55780	ERMARD	OMIM:615544
HP:0011182	Interictal epileptiform activity	3767	KCNJ11	ORPHA:79134
HP:0011182	Interictal epileptiform activity	3767	KCNJ11	OMIM:618856
HP:0011182	Interictal epileptiform activity	79731	NARS2	ORPHA:79134
HP:0011182	Interictal epileptiform activity	23097	CDK19	OMIM:618916
HP:0011182	Interictal epileptiform activity	23097	CDK19	ORPHA:442835
HP:0011182	Interictal epileptiform activity	4763	NF1	OMIM:162200
HP:0011182	Interictal epileptiform activity	84340	GFM2	ORPHA:565624
HP:0011182	Interictal epileptiform activity	84340	GFM2	OMIM:618397
HP:0011182	Interictal epileptiform activity	2560	GABRB1	OMIM:617153
HP:0011182	Interictal epileptiform activity	79641	ROGDI	OMIM:226750
HP:0011182	Interictal epileptiform activity	150094	SIK1	OMIM:616341
HP:0011182	Interictal epileptiform activity	150094	SIK1	ORPHA:3451
HP:0011182	Interictal epileptiform activity	150094	SIK1	ORPHA:1935
HP:0011182	Interictal epileptiform activity	150094	SIK1	ORPHA:1934
HP:0011182	Interictal epileptiform activity	535	ATP6V0A1	OMIM:619970
HP:0011182	Interictal epileptiform activity	8120	AP3B2	OMIM:617276
HP:0011182	Interictal epileptiform activity	8120	AP3B2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1759	DNM1	OMIM:616346
HP:0011182	Interictal epileptiform activity	1759	DNM1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1759	DNM1	OMIM:620352
HP:0011182	Interictal epileptiform activity	6709	SPTAN1	OMIM:613477
HP:0011182	Interictal epileptiform activity	6709	SPTAN1	ORPHA:3451
HP:0011182	Interictal epileptiform activity	4915	NTRK2	OMIM:617830
HP:0011182	Interictal epileptiform activity	4915	NTRK2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	4915	NTRK2	ORPHA:3451
HP:0011182	Interictal epileptiform activity	9326	ZNHIT3	ORPHA:2836
HP:0011182	Interictal epileptiform activity	9326	ZNHIT3	OMIM:260565
HP:0011182	Interictal epileptiform activity	547	KIF1A	ORPHA:2836
HP:0011182	Interictal epileptiform activity	7965	AIMP2	OMIM:618006
HP:0011182	Interictal epileptiform activity	3054	HCFC1	OMIM:309541
HP:0011182	Interictal epileptiform activity	26999	CYFIP2	OMIM:618008
HP:0011182	Interictal epileptiform activity	26999	CYFIP2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	9361	LONP1	ORPHA:79243
HP:0011182	Interictal epileptiform activity	5160	PDHA1	ORPHA:79243
HP:0011182	Interictal epileptiform activity	5805	PTS	ORPHA:13
HP:0011182	Interictal epileptiform activity	1327	COX4I1	OMIM:619060
HP:0011182	Interictal epileptiform activity	283987	HID1	OMIM:619983
HP:0011182	Interictal epileptiform activity	2906	GRIN2D	OMIM:617162
HP:0011182	Interictal epileptiform activity	2906	GRIN2D	ORPHA:442835
HP:0011182	Interictal epileptiform activity	25930	PTPN23	OMIM:618890
HP:0011182	Interictal epileptiform activity	5277	PIGA	OMIM:300868
HP:0011182	Interictal epileptiform activity	5277	PIGA	ORPHA:3451
HP:0011182	Interictal epileptiform activity	23327	NEDD4L	OMIM:617201
HP:0011182	Interictal epileptiform activity	1822	ATN1	OMIM:618494
HP:0011182	Interictal epileptiform activity	132158	GLYCTK	OMIM:220120
HP:0011182	Interictal epileptiform activity	4761	NEUROD2	OMIM:618374
HP:0011182	Interictal epileptiform activity	4761	NEUROD2	ORPHA:1934
HP:0011182	Interictal epileptiform activity	84896	ATAD1	OMIM:618011
HP:0011182	Interictal epileptiform activity	523	ATP6V1A	OMIM:618012
HP:0011182	Interictal epileptiform activity	523	ATP6V1A	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1641	DCX	ORPHA:2148
HP:0011182	Interictal epileptiform activity	284184	NDUFAF8	OMIM:618776
HP:0011182	Interictal epileptiform activity	10991	SLC38A3	ORPHA:442835
HP:0011182	Interictal epileptiform activity	51343	FZR1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	22906	TRAK1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1917	EEF1A2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1917	EEF1A2	OMIM:616409
HP:0011182	Interictal epileptiform activity	2561	GABRB2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	79876	UBA5	ORPHA:442835
HP:0011182	Interictal epileptiform activity	2558	GABRA5	ORPHA:442835
HP:0011182	Interictal epileptiform activity	781	CACNA2D1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	116150	NUS1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	774	CACNA1B	ORPHA:442835
HP:0011182	Interictal epileptiform activity	1213	CLTC	ORPHA:442835
HP:0011182	Interictal epileptiform activity	51741	WWOX	ORPHA:442835
HP:0011182	Interictal epileptiform activity	23334	SZT2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	348980	HCN1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	6506	SLC1A2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	6506	SLC1A2	OMIM:617105
HP:0011182	Interictal epileptiform activity	477	ATP1A2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	284111	SLC13A5	ORPHA:442835
HP:0011182	Interictal epileptiform activity	16	AARS1	ORPHA:442835
HP:0011182	Interictal epileptiform activity	22866	CNKSR2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	2555	GABRA2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	55152	DALRD3	ORPHA:442835
HP:0011182	Interictal epileptiform activity	773	CACNA1A	ORPHA:442835
HP:0011182	Interictal epileptiform activity	25973	PARS2	ORPHA:442835
HP:0011182	Interictal epileptiform activity	25973	PARS2	OMIM:618437
HP:0011182	Interictal epileptiform activity	79947	DHDDS	ORPHA:442835
HP:0011182	Interictal epileptiform activity	26040	SETBP1	OMIM:269150
HP:0011182	Interictal epileptiform activity	26040	SETBP1	ORPHA:798
HP:0011182	Interictal epileptiform activity	149371	EXOC8	OMIM:619076
HP:0011182	Interictal epileptiform activity	23316	CUX2	OMIM:618141
HP:0011182	Interictal epileptiform activity	6812	STXBP1	OMIM:612164
HP:0011182	Interictal epileptiform activity	55699	IARS2	OMIM:616007
HP:0011182	Interictal epileptiform activity	92609	TIMM50	OMIM:617698
HP:0011182	Interictal epileptiform activity	92609	TIMM50	ORPHA:505216
HP:0011182	Interictal epileptiform activity	8452	CUL3	OMIM:619239
HP:0011182	Interictal epileptiform activity	116115	ZNF526	OMIM:619877
HP:0011182	Interictal epileptiform activity	538	ATP7A	OMIM:309400
HP:0011182	Interictal epileptiform activity	378884	NHLRC1	ORPHA:501
HP:0011182	Interictal epileptiform activity	7957	EPM2A	ORPHA:501
HP:0011182	Interictal epileptiform activity	85365	ALG2	ORPHA:79326
HP:0011182	Interictal epileptiform activity	85365	ALG2	OMIM:607906
HP:0011182	Interictal epileptiform activity	4247	MGAT2	ORPHA:79329
HP:0011182	Interictal epileptiform activity	728294	D2HGDH	OMIM:600721
HP:0011182	Interictal epileptiform activity	2571	GAD1	OMIM:619124
HP:0011182	Interictal epileptiform activity	60558	GUF1	OMIM:617065
HP:0011182	Interictal epileptiform activity	60558	GUF1	ORPHA:3451
HP:0011182	Interictal epileptiform activity	51124	IER3IP1	OMIM:614231
HP:0011182	Interictal epileptiform activity	26227	PHGDH	OMIM:601815
HP:0011182	Interictal epileptiform activity	7358	UGDH	OMIM:618792
HP:0011182	Interictal epileptiform activity	56947	MFF	ORPHA:485421
HP:0011182	Interictal epileptiform activity	56947	MFF	OMIM:617086
HP:0011182	Interictal epileptiform activity	2904	GRIN2B	OMIM:616139
HP:0011182	Interictal epileptiform activity	2904	GRIN2B	ORPHA:3451
HP:0011182	Interictal epileptiform activity	4190	MDH1	OMIM:618959
HP:0011182	Interictal epileptiform activity	9373	PLAA	ORPHA:521426
HP:0011182	Interictal epileptiform activity	55704	CCDC88A	OMIM:617507
HP:0011182	Interictal epileptiform activity	9440	MED17	OMIM:613668
HP:0011182	Interictal epileptiform activity	221692	PHACTR1	ORPHA:3451
HP:0011182	Interictal epileptiform activity	221692	PHACTR1	OMIM:618298
HP:0011182	Interictal epileptiform activity	10695	CNPY3	ORPHA:3451
HP:0011182	Interictal epileptiform activity	10695	CNPY3	OMIM:617929
HP:0011182	Interictal epileptiform activity	23236	PLCB1	ORPHA:3451
HP:0011182	Interictal epileptiform activity	23236	PLCB1	OMIM:613722
HP:0011182	Interictal epileptiform activity	11152	WDR45	ORPHA:3451
HP:0011182	Interictal epileptiform activity	10681	GNB5	ORPHA:542306
HP:0011182	Interictal epileptiform activity	55739	NAXD	OMIM:618321
HP:0011182	Interictal epileptiform activity	440	ASNS	OMIM:615574
HP:0011182	Interictal epileptiform activity	777	CACNA1E	OMIM:618285
HP:0011182	Interictal epileptiform activity	79718	TBL1XR1	OMIM:616944
HP:0011182	Interictal epileptiform activity	51294	PCDH12	OMIM:251280
HP:0011182	Interictal epileptiform activity	64116	SLC39A8	ORPHA:468699
HP:0011182	Interictal epileptiform activity	5048	PAFAH1B1	ORPHA:95232
HP:0011182	Interictal epileptiform activity	6509	SLC1A4	ORPHA:447997
HP:0011182	Interictal epileptiform activity	2801	GOLGA2	OMIM:620240
HP:0011182	Interictal epileptiform activity	10195	ALG3	OMIM:601110
HP:0011182	Interictal epileptiform activity	51733	UPB1	OMIM:613161
HP:0011182	Interictal epileptiform activity	7040	TGFB1	OMIM:618213
HP:0011182	Interictal epileptiform activity	1496	CTNNA2	OMIM:618174
HP:0011182	Interictal epileptiform activity	55753	OGDHL	OMIM:619701
HP:0011182	Interictal epileptiform activity	79751	SLC25A22	ORPHA:1935
HP:0011182	Interictal epileptiform activity	79751	SLC25A22	ORPHA:1934
HP:0011182	Interictal epileptiform activity	3736	KCNA1	ORPHA:1934
HP:0011182	Interictal epileptiform activity	9091	PIGQ	ORPHA:1934
HP:0011182	Interictal epileptiform activity	2902	GRIN1	ORPHA:1934
HP:0011182	Interictal epileptiform activity	8573	CASK	ORPHA:1934
HP:0011182	Interictal epileptiform activity	23312	DMXL2	ORPHA:1934
HP:0011182	Interictal epileptiform activity	11284	PNKP	ORPHA:1934
HP:0011182	Interictal epileptiform activity	1203	CLN5	ORPHA:228360
HP:0011182	Interictal epileptiform activity	443	ASPA	OMIM:271900
HP:0011182	Interictal epileptiform activity	2775	GNAO1	OMIM:617493
HP:0011182	Interictal epileptiform activity	51604	PIGT	OMIM:615398
HP:0011182	Interictal epileptiform activity	51604	PIGT	ORPHA:369837
HP:0011182	Interictal epileptiform activity	8913	CACNA1G	OMIM:618087
HP:0011182	Interictal epileptiform activity	8218	CLTCL1	ORPHA:453510
HP:0011182	Interictal epileptiform activity	6711	SPTBN1	OMIM:619475
HP:0011182	Interictal epileptiform activity	5530	PPP3CA	OMIM:617711
HP:0011182	Interictal epileptiform activity	51227	PIGP	OMIM:617599
HP:0011182	Interictal epileptiform activity	132	ADK	OMIM:614300
HP:0011182	Interictal epileptiform activity	51412	ACTL6B	OMIM:618468
HP:0011182	Interictal epileptiform activity	85440	DOCK7	ORPHA:411986
HP:0011182	Interictal epileptiform activity	22845	DOLK	ORPHA:91131
HP:0011182	Interictal epileptiform activity	23389	MED13L	ORPHA:369891
HP:0011182	Interictal epileptiform activity	6335	SCN9A	ORPHA:33069
HP:0011182	Interictal epileptiform activity	6326	SCN2A	ORPHA:33069
HP:0011182	Interictal epileptiform activity	6324	SCN1B	ORPHA:33069
HP:0011182	Interictal epileptiform activity	57526	PCDH19	ORPHA:33069
HP:0011182	Interictal epileptiform activity	10128	LRPPRC	ORPHA:70472
HP:0011182	Interictal epileptiform activity	501	ALDH7A1	ORPHA:3006
HP:0011182	Interictal epileptiform activity	11212	PLPBP	ORPHA:3006
HP:0011182	Interictal epileptiform activity	8131	NPRL3	ORPHA:98820
HP:0011182	Interictal epileptiform activity	10641	NPRL2	ORPHA:98820
HP:0011182	Interictal epileptiform activity	9681	DEPDC5	ORPHA:98820
HP:0011182	Interictal epileptiform activity	6821	SUOX	OMIM:272300
HP:0011182	Interictal epileptiform activity	4615	MYD88	ORPHA:33226
HP:0011182	Interictal epileptiform activity	6792	CDKL5	ORPHA:505652
HP:0011182	Interictal epileptiform activity	1468	SLC25A10	OMIM:618972
HP:0011182	Interictal epileptiform activity	79587	CARS2	OMIM:616672
HP:0011182	Interictal epileptiform activity	2257	FGF12	OMIM:617166
HP:0011182	Interictal epileptiform activity	2782	GNB1	ORPHA:488613
HP:0011182	Interictal epileptiform activity	2782	GNB1	OMIM:616973
HP:0011182	Interictal epileptiform activity	1106	CHD2	OMIM:615369
HP:0011182	Interictal epileptiform activity	1806	DPYD	ORPHA:1675
HP:0011182	Interictal epileptiform activity	478	ATP1A3	OMIM:619606
HP:0011182	Interictal epileptiform activity	7280	TUBB2A	OMIM:615763
HP:0011182	Interictal epileptiform activity	6334	SCN8A	OMIM:614558
HP:0011182	Interictal epileptiform activity	10565	ARFGEF1	OMIM:619964
HP:0011182	Interictal epileptiform activity	6304	SATB1	OMIM:619229
HP:0011182	Interictal epileptiform activity	9568	GABBR2	OMIM:617904
HP:0011182	Interictal epileptiform activity	56052	ALG1	OMIM:608540
HP:0011182	Interictal epileptiform activity	8869	ST3GAL5	OMIM:609056
HP:0011182	Interictal epileptiform activity	6513	SLC2A1	ORPHA:64280
HP:0011182	Interictal epileptiform activity	2562	GABRB3	ORPHA:64280
HP:0011182	Interictal epileptiform activity	2554	GABRA1	ORPHA:64280
HP:0011182	Interictal epileptiform activity	8912	CACNA1H	ORPHA:64280
HP:0011182	Interictal epileptiform activity	8629	JRK	ORPHA:64280
HP:0011182	Interictal epileptiform activity	3737	KCNA2	OMIM:616366
HP:0011182	Interictal epileptiform activity	23067	SETD1B	OMIM:619000
HP:0011182	Interictal epileptiform activity	6323	SCN1A	OMIM:619317
HP:0011182	Interictal epileptiform activity	3778	KCNMA1	OMIM:609446
HP:0011182	Interictal epileptiform activity	3778	KCNMA1	ORPHA:79137
HP:0011182	Interictal epileptiform activity	114327	EFHC1	OMIM:607631
HP:0011182	Interictal epileptiform activity	2566	GABRG2	OMIM:607681
HP:0011182	Interictal epileptiform activity	6857	SYT1	ORPHA:522077
HP:0011182	Interictal epileptiform activity	10157	AASS	ORPHA:2203
HP:0011182	Interictal epileptiform activity	57094	CPA6	OMIM:614417
HP:0011182	Interictal epileptiform activity	112755	STX1B	ORPHA:36387
HP:0011182	Interictal epileptiform activity	84059	ADGRV1	ORPHA:36387
HP:0011182	Interictal epileptiform activity	51422	PRKAG2	OMIM:261740
HP:0011182	Interictal epileptiform activity	1020	CDK5	OMIM:616342
HP:0011182	Interictal epileptiform activity	94005	PIGS	OMIM:618143
HP:0011182	Interictal epileptiform activity	8818	DPM2	ORPHA:329178
HP:0011182	Interictal epileptiform activity	708	C1QBP	OMIM:617713
HP:0011182	Interictal epileptiform activity	2744	GLS	OMIM:618328
HP:0011182	Interictal epileptiform activity	7841	MOGS	OMIM:606056
HP:0011182	Interictal epileptiform activity	57176	VARS2	OMIM:615917
HP:0011182	Interictal epileptiform activity	7707	ZNF148	OMIM:617260
HP:0011182	Interictal epileptiform activity	440138	ALG11	ORPHA:280071
HP:0011182	Interictal epileptiform activity	91137	SLC25A46	OMIM:619303
HP:0011182	Interictal epileptiform activity	18	ABAT	OMIM:613163
HP:0011182	Interictal epileptiform activity	4905	NSF	OMIM:619340
HP:0011182	Interictal epileptiform activity	1785	DNM2	OMIM:615368
HP:0011182	Interictal epileptiform activity	221927	BRAT1	OMIM:614498
HP:0011182	Interictal epileptiform activity	55163	PNPO	ORPHA:79096
HP:0011182	Interictal epileptiform activity	26960	NBEA	OMIM:619157
HP:0011182	Interictal epileptiform activity	2892	GRIA3	OMIM:300699
HP:0011182	Interictal epileptiform activity	104	ADARB1	OMIM:618862
HP:0011182	Interictal epileptiform activity	92335	STRADA	ORPHA:500533
HP:0011182	Interictal epileptiform activity	2890	GRIA1	OMIM:619931
HP:0011182	Interictal epileptiform activity	2917	GRM7	OMIM:618922
HP:0011182	Interictal epileptiform activity	25977	NECAP1	OMIM:615833
HP:0011182	Interictal epileptiform activity	23732	FRRS1L	ORPHA:725
HP:0011182	Interictal epileptiform activity	2903	GRIN2A	ORPHA:725
HP:0011182	Interictal epileptiform activity	112476	PRRT2	ORPHA:306
HP:0011182	Interictal epileptiform activity	3785	KCNQ2	ORPHA:306
HP:0011182	Interictal epileptiform activity	3786	KCNQ3	ORPHA:306
HP:0011182	Interictal epileptiform activity	9570	GOSR2	OMIM:620166
HP:0011182	Interictal epileptiform activity	84081	NSRP1	OMIM:620001
HP:0011182	Interictal epileptiform activity	8831	SYNGAP1	ORPHA:1942
HP:0011182	Interictal epileptiform activity	1173	AP2M1	ORPHA:1942
HP:0011182	Interictal epileptiform activity	340533	NEXMIF	ORPHA:1942
HP:0011182	Interictal epileptiform activity	6529	SLC6A1	ORPHA:1942
HP:0011182	Interictal epileptiform activity	26047	CNTNAP2	ORPHA:163681
HP:0011182	Interictal epileptiform activity	815	CAMK2A	OMIM:618095
HP:0011182	Interictal epileptiform activity	1137	CHRNA4	ORPHA:98784
HP:0011182	Interictal epileptiform activity	1135	CHRNA2	ORPHA:98784
HP:0011182	Interictal epileptiform activity	57010	CABP4	ORPHA:98784
HP:0011182	Interictal epileptiform activity	1141	CHRNB2	ORPHA:98784
HP:0011182	Interictal epileptiform activity	57582	KCNT1	ORPHA:98784
HP:0011182	Interictal epileptiform activity	1392	CRH	ORPHA:98784
HP:0011182	Interictal epileptiform activity	10479	SLC9A6	OMIM:300243
HP:0011182	Interictal epileptiform activity	6833	ABCC8	OMIM:618857
HP:0011182	Interictal epileptiform activity	10844	TUBGCP2	OMIM:618737
HP:0011182	Interictal epileptiform activity	6900	CNTN2	OMIM:615400
HP:0011182	Interictal epileptiform activity	7407	VARS1	OMIM:617802
HP:0011182	Interictal epileptiform activity	1476	CSTB	OMIM:254800
HP:0011182	Interictal epileptiform activity	9990	SLC12A6	OMIM:218000
HP:0011182	Interictal epileptiform activity	4131	MAP1B	OMIM:618918
HP:0011182	Interictal epileptiform activity	154881	KCTD7	ORPHA:263516
HP:0011182	Interictal epileptiform activity	7337	UBE3A	ORPHA:98795
HP:0011182	Interictal epileptiform activity	5649	RELN	ORPHA:101046
HP:0011182	Interictal epileptiform activity	9211	LGI1	ORPHA:101046
HP:0011182	Interictal epileptiform activity	284058	KANSL1	ORPHA:363965
HP:0011182	Interictal epileptiform activity	284058	KANSL1	ORPHA:363958
HP:0011182	Interictal epileptiform activity	54681	P4HTM	OMIM:618493
HP:0011182	Interictal epileptiform activity	7355	SLC35A2	ORPHA:356961
HP:0011182	Interictal epileptiform activity	5631	PRPS1	ORPHA:1187
HP:0011182	Interictal epileptiform activity	11342	RNF13	ORPHA:544503
HP:0011182	Interictal epileptiform activity	4204	MECP2	ORPHA:3077
HP:0011182	Interictal epileptiform activity	57107	PDSS2	ORPHA:255249
HP:0011182	Interictal epileptiform activity	27235	COQ2	ORPHA:255249
HP:0011182	Interictal epileptiform activity	54872	PIGG	ORPHA:488635
HP:0011182	Interictal epileptiform activity	54872	PIGG	OMIM:616917
HP:0011182	Interictal epileptiform activity	1183	CLCN4	ORPHA:485350
HP:0011182	Interictal epileptiform activity	5602	MAPK10	ORPHA:2382
HP:0011182	Interictal epileptiform activity	10730	YME1L1	OMIM:617302
HP:0011182	Interictal epileptiform activity	1605	DAG1	ORPHA:370997
HP:0011182	Interictal epileptiform activity	25814	ATXN10	ORPHA:98761
HP:0011182	Interictal epileptiform activity	2746	GLUD1	ORPHA:35878
HP:0011182	Interictal epileptiform activity	3746	KCNC1	OMIM:616187
HP:0011182	Interictal epileptiform activity	10815	CPLX1	OMIM:617976
HP:0011182	Interictal epileptiform activity	55367	PIDD1	OMIM:619827
HP:0011182	Interictal epileptiform activity	93627	TBCK	ORPHA:488632
HP:0011182	Interictal epileptiform activity	2055	CLN8	ORPHA:1947
HP:0011182	Interictal epileptiform activity	8659	ALDH4A1	ORPHA:79101
HP:0011182	Interictal epileptiform activity	5290	PIK3CA	ORPHA:99802
HP:0011182	Interictal epileptiform activity	2475	MTOR	ORPHA:99802
HP:0011182	Interictal epileptiform activity	10000	AKT3	ORPHA:99802
HP:0011182	Interictal epileptiform activity	2896	GRN	OMIM:614706
HP:0011182	Interictal epileptiform activity	7030	TFE3	OMIM:301066
HP:0011182	Interictal epileptiform activity	23229	ARHGEF9	ORPHA:163985
HP:0011182	Interictal epileptiform activity	23096	IQSEC2	ORPHA:217377
HP:0011182	Interictal epileptiform activity	81603	TRIM8	OMIM:619428
HP:0011182	Interictal epileptiform activity	23102	TBC1D2B	OMIM:619323
HP:0011185	EEG with focal epileptiform discharges	1203	CLN5	ORPHA:228360
HP:0011185	EEG with focal epileptiform discharges	443	ASPA	OMIM:271900
HP:0011185	EEG with focal epileptiform discharges	2775	GNAO1	OMIM:617493
HP:0011185	EEG with focal epileptiform discharges	51604	PIGT	OMIM:615398
HP:0011185	EEG with focal epileptiform discharges	51604	PIGT	ORPHA:369837
HP:0011185	EEG with focal epileptiform discharges	8913	CACNA1G	OMIM:618087
HP:0011185	EEG with focal epileptiform discharges	8218	CLTCL1	ORPHA:453510
HP:0011185	EEG with focal epileptiform discharges	6711	SPTBN1	OMIM:619475
HP:0011185	EEG with focal epileptiform discharges	5530	PPP3CA	OMIM:617711
HP:0011185	EEG with focal epileptiform discharges	51227	PIGP	OMIM:617599
HP:0011185	EEG with focal epileptiform discharges	132	ADK	OMIM:614300
HP:0011185	EEG with focal epileptiform discharges	51412	ACTL6B	OMIM:618468
HP:0011185	EEG with focal epileptiform discharges	6323	SCN1A	OMIM:619317
HP:0011185	EEG with focal epileptiform discharges	6323	SCN1A	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	85440	DOCK7	ORPHA:411986
HP:0011185	EEG with focal epileptiform discharges	22845	DOLK	ORPHA:91131
HP:0011185	EEG with focal epileptiform discharges	23389	MED13L	ORPHA:369891
HP:0011185	EEG with focal epileptiform discharges	6335	SCN9A	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	6326	SCN2A	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	2554	GABRA1	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	6324	SCN1B	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	57526	PCDH19	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	2566	GABRG2	ORPHA:33069
HP:0011185	EEG with focal epileptiform discharges	10128	LRPPRC	ORPHA:70472
HP:0011185	EEG with focal epileptiform discharges	501	ALDH7A1	ORPHA:3006
HP:0011185	EEG with focal epileptiform discharges	11212	PLPBP	ORPHA:3006
HP:0011185	EEG with focal epileptiform discharges	8131	NPRL3	ORPHA:98820
HP:0011185	EEG with focal epileptiform discharges	10641	NPRL2	ORPHA:98820
HP:0011185	EEG with focal epileptiform discharges	9681	DEPDC5	ORPHA:98820
HP:0011185	EEG with focal epileptiform discharges	6821	SUOX	OMIM:272300
HP:0011185	EEG with focal epileptiform discharges	4615	MYD88	ORPHA:33226
HP:0011185	EEG with focal epileptiform discharges	6792	CDKL5	ORPHA:505652
HP:0011185	EEG with focal epileptiform discharges	3778	KCNMA1	OMIM:618596
HP:0011185	EEG with focal epileptiform discharges	1468	SLC25A10	OMIM:618972
HP:0011185	EEG with focal epileptiform discharges	79587	CARS2	OMIM:616672
HP:0011185	EEG with focal epileptiform discharges	2257	FGF12	OMIM:617166
HP:0011185	EEG with focal epileptiform discharges	2782	GNB1	ORPHA:488613
HP:0011185	EEG with focal epileptiform discharges	2782	GNB1	OMIM:616973
HP:0011185	EEG with focal epileptiform discharges	1106	CHD2	OMIM:615369
HP:0011185	EEG with focal epileptiform discharges	1806	DPYD	ORPHA:1675
HP:0011185	EEG with focal epileptiform discharges	478	ATP1A3	OMIM:619606
HP:0011185	EEG with focal epileptiform discharges	7280	TUBB2A	OMIM:615763
HP:0011185	EEG with focal epileptiform discharges	6334	SCN8A	OMIM:614558
HP:0011185	EEG with focal epileptiform discharges	10565	ARFGEF1	OMIM:619964
HP:0011185	EEG with focal epileptiform discharges	6304	SATB1	OMIM:619229
HP:0011185	EEG with focal epileptiform discharges	9568	GABBR2	OMIM:617904
HP:0011185	EEG with focal epileptiform discharges	56052	ALG1	OMIM:608540
HP:0011185	EEG with focal epileptiform discharges	8869	ST3GAL5	OMIM:609056
HP:0011185	EEG with focal epileptiform discharges	154881	KCTD7	ORPHA:263516
HP:0011185	EEG with focal epileptiform discharges	7337	UBE3A	ORPHA:98795
HP:0011185	EEG with focal epileptiform discharges	5649	RELN	ORPHA:101046
HP:0011185	EEG with focal epileptiform discharges	9211	LGI1	ORPHA:101046
HP:0011185	EEG with focal epileptiform discharges	284058	KANSL1	ORPHA:363965
HP:0011185	EEG with focal epileptiform discharges	284058	KANSL1	ORPHA:363958
HP:0011185	EEG with focal epileptiform discharges	54681	P4HTM	OMIM:618493
HP:0011185	EEG with focal epileptiform discharges	7355	SLC35A2	ORPHA:356961
HP:0011185	EEG with focal epileptiform discharges	5631	PRPS1	ORPHA:1187
HP:0011185	EEG with focal epileptiform discharges	11342	RNF13	ORPHA:544503
HP:0011185	EEG with focal epileptiform discharges	3785	KCNQ2	ORPHA:1949
HP:0011185	EEG with focal epileptiform discharges	3786	KCNQ3	ORPHA:1949
HP:0011185	EEG with focal epileptiform discharges	4204	MECP2	ORPHA:3077
HP:0011185	EEG with focal epileptiform discharges	3736	KCNA1	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	9091	PIGQ	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	2902	GRIN1	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	79751	SLC25A22	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	150094	SIK1	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	8573	CASK	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	23312	DMXL2	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	2917	GRM7	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	170302	ARX	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	11284	PNKP	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	4761	NEUROD2	ORPHA:1934
HP:0011185	EEG with focal epileptiform discharges	1137	CHRNA4	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	1135	CHRNA2	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	57010	CABP4	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	1141	CHRNB2	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	57582	KCNT1	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	1392	CRH	ORPHA:98784
HP:0011185	EEG with focal epileptiform discharges	57107	PDSS2	ORPHA:255249
HP:0011185	EEG with focal epileptiform discharges	27235	COQ2	ORPHA:255249
HP:0011185	EEG with focal epileptiform discharges	54872	PIGG	ORPHA:488635
HP:0011185	EEG with focal epileptiform discharges	54872	PIGG	OMIM:616917
HP:0011185	EEG with focal epileptiform discharges	1183	CLCN4	ORPHA:485350
HP:0011185	EEG with focal epileptiform discharges	26047	CNTNAP2	ORPHA:163681
HP:0011185	EEG with focal epileptiform discharges	1759	DNM1	ORPHA:2382
HP:0011185	EEG with focal epileptiform discharges	2562	GABRB3	ORPHA:2382
HP:0011185	EEG with focal epileptiform discharges	5602	MAPK10	ORPHA:2382
HP:0011185	EEG with focal epileptiform discharges	23316	CUX2	ORPHA:2382
HP:0011185	EEG with focal epileptiform discharges	283987	HID1	OMIM:619983
HP:0011185	EEG with focal epileptiform discharges	10730	YME1L1	OMIM:617302
HP:0011185	EEG with focal epileptiform discharges	29968	PSAT1	ORPHA:284417
HP:0011185	EEG with focal epileptiform discharges	9361	LONP1	ORPHA:79243
HP:0011185	EEG with focal epileptiform discharges	5160	PDHA1	ORPHA:79243
HP:0011185	EEG with focal epileptiform discharges	6857	SYT1	ORPHA:522077
HP:0011185	EEG with focal epileptiform discharges	773	CACNA1A	ORPHA:569
HP:0011185	EEG with focal epileptiform discharges	112476	PRRT2	ORPHA:569
HP:0011185	EEG with focal epileptiform discharges	477	ATP1A2	ORPHA:569
HP:0011185	EEG with focal epileptiform discharges	10815	CPLX1	ORPHA:352582
HP:0011185	EEG with focal epileptiform discharges	6513	SLC2A1	ORPHA:1942
HP:0011185	EEG with focal epileptiform discharges	8831	SYNGAP1	ORPHA:1942
HP:0011185	EEG with focal epileptiform discharges	1173	AP2M1	ORPHA:1942
HP:0011185	EEG with focal epileptiform discharges	340533	NEXMIF	ORPHA:1942
HP:0011185	EEG with focal epileptiform discharges	6529	SLC6A1	ORPHA:1942
HP:0011185	EEG with focal epileptiform discharges	1605	DAG1	ORPHA:370997
HP:0011185	EEG with focal epileptiform discharges	5290	PIK3CA	ORPHA:99802
HP:0011185	EEG with focal epileptiform discharges	2475	MTOR	ORPHA:99802
HP:0011185	EEG with focal epileptiform discharges	10000	AKT3	ORPHA:99802
HP:0011185	EEG with focal epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0011185	EEG with focal epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0011185	EEG with focal epileptiform discharges	57465	TBC1D24	ORPHA:163727
HP:0011185	EEG with focal epileptiform discharges	7030	TFE3	OMIM:301066
HP:0011185	EEG with focal epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0011185	EEG with focal epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0011185	EEG with focal epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0011185	EEG with focal epileptiform discharges	23229	ARHGEF9	ORPHA:163985
HP:0011185	EEG with focal epileptiform discharges	23096	IQSEC2	ORPHA:217377
HP:0011185	EEG with focal epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0011185	EEG with focal epileptiform discharges	23102	TBC1D2B	OMIM:619323
HP:0011186	Focal epileptiform discharges with limited propagation to contralateral hemisphere	79587	CARS2	ORPHA:477774
HP:0011188	Focal EEG discharges with secondary generalization	154881	KCTD7	ORPHA:263516
HP:0011188	Focal EEG discharges with secondary generalization	3785	KCNQ2	ORPHA:1949
HP:0011188	Focal EEG discharges with secondary generalization	3786	KCNQ3	ORPHA:1949
HP:0011188	Focal EEG discharges with secondary generalization	4204	MECP2	ORPHA:3077
HP:0031589	Suicidal ideation	1593	CYP27A1	ORPHA:909
HP:0031589	Suicidal ideation	3064	HTT	ORPHA:399
HP:0031589	Suicidal ideation	6515	SLC2A3	ORPHA:399
HP:0031589	Suicidal ideation	1137	CHRNA4	ORPHA:98784
HP:0031589	Suicidal ideation	1135	CHRNA2	ORPHA:98784
HP:0031589	Suicidal ideation	57010	CABP4	ORPHA:98784
HP:0031589	Suicidal ideation	1141	CHRNB2	ORPHA:98784
HP:0031589	Suicidal ideation	57582	KCNT1	ORPHA:98784
HP:0031589	Suicidal ideation	1392	CRH	ORPHA:98784
HP:0031589	Suicidal ideation	9681	DEPDC5	ORPHA:98784
HP:0031589	Suicidal ideation	51473	DCDC2	ORPHA:84081
HP:0031589	Suicidal ideation	91147	TMEM67	ORPHA:84081
HP:0031589	Suicidal ideation	84196	USP48	ORPHA:96253
HP:0031589	Suicidal ideation	7157	TP53	ORPHA:96253
HP:0031589	Suicidal ideation	9101	USP8	ORPHA:96253
HP:0031589	Suicidal ideation	64072	CDH23	ORPHA:96253
HP:0031589	Suicidal ideation	2908	NR3C1	ORPHA:96253
HP:0031589	Suicidal ideation	673	BRAF	ORPHA:96253
HP:0031589	Suicidal ideation	546	ATRX	ORPHA:96253
HP:0031589	Suicidal ideation	9896	FIG4	ORPHA:208441
HP:0031589	Suicidal ideation	387119	CEP85L	OMIM:618873
HP:0031589	Suicidal ideation	1639	DCTN1	OMIM:168605
HP:0031589	Suicidal ideation	6711	SPTBN1	OMIM:619475
HP:0031590	Asthenopia	25790	CFAP45	OMIM:619608
HP:0031593	Abnormal PR interval	54795	TRPM4	OMIM:604559
HP:0031593	Abnormal PR interval	2548	GAA	OMIM:232300
HP:0031593	Abnormal PR interval	2548	GAA	ORPHA:308552
HP:0031593	Abnormal PR interval	4519	MT-CYB	ORPHA:137675
HP:0031593	Abnormal PR interval	51422	PRKAG2	OMIM:194200
HP:0031593	Abnormal PR interval	51422	PRKAG2	OMIM:261740
HP:0031593	Abnormal PR interval	51422	PRKAG2	OMIM:600858
HP:0031593	Abnormal PR interval	123263	MTFMT	OMIM:614947
HP:0031593	Abnormal PR interval	100134444	KCNJ18	ORPHA:79102
HP:0031593	Abnormal PR interval	2556	GABRA3	ORPHA:79102
HP:0031593	Abnormal PR interval	779	CACNA1S	ORPHA:79102
HP:0031593	Abnormal PR interval	83475	DOHH	OMIM:620066
HP:0031593	Abnormal PR interval	6327	SCN2B	OMIM:615378
HP:0031593	Abnormal PR interval	6331	SCN5A	OMIM:113900
HP:0031593	Abnormal PR interval	10681	GNB5	ORPHA:542306
HP:0031593	Abnormal PR interval	23171	GPD1L	OMIM:611777
HP:0031593	Abnormal PR interval	1482	NKX2-5	OMIM:108900
HP:0031593	Abnormal PR interval	1188	CLCNKB	ORPHA:358
HP:0031593	Abnormal PR interval	6559	SLC12A3	ORPHA:358
HP:0031593	Abnormal PR interval	1829	DSG2	OMIM:610193
HP:0031593	Abnormal PR interval	7092	TLL1	ORPHA:99106
HP:0031593	Abnormal PR interval	3741	KCNA5	OMIM:612240
HP:0031593	Abnormal PR interval	2783	GNB2	OMIM:619464
HP:0008131	Tarsal stippling	10682	EBP	OMIM:302960
HP:0008132	Medial rotation of the medial malleolus	2200	FBN1	OMIM:154700
HP:0008133	Distal tapering of metatarsals	4313	MMP2	OMIM:259600
HP:0008134	Irregular tarsal ossification	9451	EIF2AK3	OMIM:226980
HP:0001773	Short foot	1280	COL2A1	OMIM:271700
HP:0001773	Short foot	1280	COL2A1	ORPHA:85166
HP:0001773	Short foot	8243	SMC1A	OMIM:300590
HP:0001773	Short foot	8243	SMC1A	OMIM:301044
HP:0001773	Short foot	8243	SMC1A	ORPHA:3095
HP:0001773	Short foot	8243	SMC1A	ORPHA:199
HP:0001773	Short foot	388015	RTL1	ORPHA:254531
HP:0001773	Short foot	388015	RTL1	ORPHA:254525
HP:0001773	Short foot	388015	RTL1	ORPHA:96184
HP:0001773	Short foot	8788	DLK1	ORPHA:254531
HP:0001773	Short foot	8788	DLK1	ORPHA:254525
HP:0001773	Short foot	8788	DLK1	ORPHA:96184
HP:0001773	Short foot	55384	MEG3	ORPHA:254531
HP:0001773	Short foot	55384	MEG3	ORPHA:254525
HP:0001773	Short foot	55384	MEG3	ORPHA:96184
HP:0001773	Short foot	23111	SPART	OMIM:275900
HP:0001773	Short foot	8450	CUL4B	OMIM:300354
HP:0001773	Short foot	8450	CUL4B	ORPHA:85293
HP:0001773	Short foot	2245	FGD1	OMIM:305400
HP:0001773	Short foot	2245	FGD1	ORPHA:915
HP:0001773	Short foot	26235	FBXL4	OMIM:615471
HP:0001773	Short foot	22856	CHSY1	ORPHA:363417
HP:0001773	Short foot	124997	WDR81	OMIM:610185
HP:0001773	Short foot	100151683	RNU4ATAC	OMIM:210710
HP:0001773	Short foot	5648	MASP1	OMIM:257920
HP:0001773	Short foot	23314	SATB2	ORPHA:251028
HP:0001773	Short foot	23314	SATB2	ORPHA:576283
HP:0001773	Short foot	9759	HDAC4	ORPHA:1001
HP:0001773	Short foot	145173	B3GLCT	ORPHA:709
HP:0001773	Short foot	145173	B3GLCT	OMIM:261540
HP:0001773	Short foot	2261	FGFR3	ORPHA:53271
HP:0001773	Short foot	650	BMP2	ORPHA:93396
HP:0001773	Short foot	8200	GDF5	ORPHA:93396
HP:0001773	Short foot	8200	GDF5	ORPHA:93388
HP:0001773	Short foot	8200	GDF5	OMIM:200700
HP:0001773	Short foot	8200	GDF5	ORPHA:2098
HP:0001773	Short foot	8200	GDF5	OMIM:201250
HP:0001773	Short foot	658	BMPR1B	ORPHA:93396
HP:0001773	Short foot	658	BMPR1B	ORPHA:93388
HP:0001773	Short foot	658	BMPR1B	ORPHA:2098
HP:0001773	Short foot	7681	MKRN3	OMIM:176270
HP:0001773	Short foot	3653	IPW	OMIM:176270
HP:0001773	Short foot	54551	MAGEL2	OMIM:176270
HP:0001773	Short foot	54551	MAGEL2	ORPHA:177904
HP:0001773	Short foot	54551	MAGEL2	ORPHA:177901
HP:0001773	Short foot	54551	MAGEL2	ORPHA:398069
HP:0001773	Short foot	54551	MAGEL2	ORPHA:177910
HP:0001773	Short foot	54551	MAGEL2	OMIM:615547
HP:0001773	Short foot	54551	MAGEL2	ORPHA:98754
HP:0001773	Short foot	791114	PWRN1	OMIM:176270
HP:0001773	Short foot	100033413	SNORD116-1	OMIM:176270
HP:0001773	Short foot	8924	HERC2	OMIM:176270
HP:0001773	Short foot	145624	PWAR1	OMIM:176270
HP:0001773	Short foot	23742	NPAP1	OMIM:176270
HP:0001773	Short foot	338433	SNORD115-1	OMIM:176270
HP:0001773	Short foot	9401	RECQL4	OMIM:268400
HP:0001773	Short foot	6792	CDKL5	ORPHA:3095
HP:0001773	Short foot	6792	CDKL5	OMIM:300672
HP:0001773	Short foot	22854	NTNG1	ORPHA:3095
HP:0001773	Short foot	9568	GABBR2	ORPHA:3095
HP:0001773	Short foot	9568	GABBR2	OMIM:617903
HP:0001773	Short foot	4204	MECP2	ORPHA:3095
HP:0001773	Short foot	4204	MECP2	OMIM:300260
HP:0001773	Short foot	4204	MECP2	OMIM:312750
HP:0001773	Short foot	55869	HDAC8	OMIM:300882
HP:0001773	Short foot	55869	HDAC8	ORPHA:199
HP:0001773	Short foot	55869	HDAC8	ORPHA:3459
HP:0001773	Short foot	55112	DYNC2I1	ORPHA:93271
HP:0001773	Short foot	55112	DYNC2I1	ORPHA:474
HP:0001773	Short foot	57560	IFT80	ORPHA:93271
HP:0001773	Short foot	57560	IFT80	ORPHA:474
HP:0001773	Short foot	57560	IFT80	OMIM:611263
HP:0001773	Short foot	57539	WDR35	ORPHA:93271
HP:0001773	Short foot	79659	DYNC2H1	ORPHA:93271
HP:0001773	Short foot	79659	DYNC2H1	ORPHA:474
HP:0001773	Short foot	89891	DYNC2I2	ORPHA:93271
HP:0001773	Short foot	89891	DYNC2I2	ORPHA:474
HP:0001773	Short foot	9241	NOG	ORPHA:140908
HP:0001773	Short foot	9241	NOG	OMIM:186500
HP:0001773	Short foot	1062	CENPE	OMIM:616051
HP:0001773	Short foot	6651	SON	OMIM:617140
HP:0001773	Short foot	23030	KDM4B	OMIM:619320
HP:0001773	Short foot	6905	TBCE	ORPHA:2323
HP:0001773	Short foot	6905	TBCE	OMIM:241410
HP:0001773	Short foot	6905	TBCE	OMIM:244460
HP:0001773	Short foot	6905	TBCE	ORPHA:93324
HP:0001773	Short foot	6492	SIM1	ORPHA:398079
HP:0001773	Short foot	9382	COG1	OMIM:611209
HP:0001773	Short foot	9126	SMC3	OMIM:610759
HP:0001773	Short foot	9126	SMC3	ORPHA:199
HP:0001773	Short foot	3549	IHH	ORPHA:93388
HP:0001773	Short foot	55777	MBD5	OMIM:156200
HP:0001773	Short foot	6638	SNRPN	ORPHA:177904
HP:0001773	Short foot	6638	SNRPN	ORPHA:177901
HP:0001773	Short foot	6638	SNRPN	ORPHA:177910
HP:0001773	Short foot	6638	SNRPN	ORPHA:177907
HP:0001773	Short foot	6638	SNRPN	ORPHA:98754
HP:0001773	Short foot	4692	NDN	ORPHA:177904
HP:0001773	Short foot	4692	NDN	ORPHA:177901
HP:0001773	Short foot	4692	NDN	ORPHA:177910
HP:0001773	Short foot	4692	NDN	ORPHA:98754
HP:0001773	Short foot	4948	OCA2	ORPHA:177904
HP:0001773	Short foot	4948	OCA2	ORPHA:177901
HP:0001773	Short foot	4948	OCA2	ORPHA:98754
HP:0001773	Short foot	2263	FGFR2	ORPHA:93260
HP:0001773	Short foot	2263	FGFR2	ORPHA:93258
HP:0001773	Short foot	2263	FGFR2	ORPHA:93259
HP:0001773	Short foot	2590	GALNT2	OMIM:618885
HP:0001773	Short foot	818	CAMK2G	OMIM:618522
HP:0001773	Short foot	80204	FBXO11	OMIM:618089
HP:0001773	Short foot	1778	DYNC1H1	OMIM:614563
HP:0001773	Short foot	3064	HTT	OMIM:617435
HP:0001773	Short foot	10381	TUBB3	ORPHA:300570
HP:0001773	Short foot	84100	ARL6	OMIM:209900
HP:0001773	Short foot	79140	CCDC28B	OMIM:209900
HP:0001773	Short foot	582	BBS1	OMIM:209900
HP:0001773	Short foot	3759	KCNJ2	OMIM:170390
HP:0001773	Short foot	3759	KCNJ2	ORPHA:37553
HP:0001773	Short foot	2260	FGFR1	ORPHA:93258
HP:0001773	Short foot	2260	FGFR1	OMIM:166250
HP:0001773	Short foot	64327	LMBR1	OMIM:135750
HP:0001773	Short foot	5745	PTH1R	ORPHA:79106
HP:0001773	Short foot	6045	RNF2	OMIM:619460
HP:0001773	Short foot	7319	UBE2A	OMIM:300860
HP:0001773	Short foot	7319	UBE2A	ORPHA:163956
HP:0001773	Short foot	10943	MSL3	OMIM:301032
HP:0001773	Short foot	10087	CERT1	OMIM:616351
HP:0001773	Short foot	633	BGN	OMIM:300106
HP:0001773	Short foot	1301	COL11A1	OMIM:228520
HP:0001773	Short foot	6885	MAP3K7	OMIM:157800
HP:0001773	Short foot	6023	RMRP	OMIM:607095
HP:0001773	Short foot	6304	SATB1	OMIM:619229
HP:0001773	Short foot	25942	SIN3A	OMIM:613406
HP:0001773	Short foot	9487	PIGL	ORPHA:3474
HP:0001773	Short foot	2697	GJA1	OMIM:257850
HP:0001773	Short foot	23476	BRD4	ORPHA:199
HP:0001773	Short foot	25836	NIPBL	ORPHA:199
HP:0001773	Short foot	5885	RAD21	ORPHA:199
HP:0001773	Short foot	26160	IFT172	ORPHA:474
HP:0001773	Short foot	153241	CEP120	ORPHA:474
HP:0001773	Short foot	51626	DYNC2LI1	ORPHA:474
HP:0001773	Short foot	9742	IFT140	ORPHA:474
HP:0001773	Short foot	57728	WDR19	ORPHA:474
HP:0001773	Short foot	57728	WDR19	OMIM:614376
HP:0001773	Short foot	79809	TTC21B	ORPHA:474
HP:0001773	Short foot	3981	LIG4	ORPHA:235
HP:0001773	Short foot	54888	NSUN2	ORPHA:235
HP:0001773	Short foot	55768	NGLY1	OMIM:615273
HP:0001773	Short foot	7874	USP7	ORPHA:500055
HP:0001773	Short foot	8493	PPM1D	OMIM:617450
HP:0001773	Short foot	57003	CCDC47	OMIM:618268
HP:0001773	Short foot	2200	FBN1	OMIM:614185
HP:0001773	Short foot	2200	FBN1	OMIM:102370
HP:0001773	Short foot	8239	USP9X	ORPHA:480880
HP:0001773	Short foot	8239	USP9X	OMIM:300968
HP:0001773	Short foot	9894	TELO2	ORPHA:488642
HP:0001773	Short foot	10013	HDAC6	ORPHA:163966
HP:0001773	Short foot	8364	H4C3	OMIM:619758
HP:0001773	Short foot	5590	PRKCZ	ORPHA:1606
HP:0001773	Short foot	2563	GABRD	ORPHA:1606
HP:0001773	Short foot	23013	SPEN	ORPHA:1606
HP:0001773	Short foot	8510	MMP23B	ORPHA:1606
HP:0001773	Short foot	7798	LUZP1	ORPHA:1606
HP:0001773	Short foot	6497	SKI	ORPHA:1606
HP:0001773	Short foot	10630	PDPN	ORPHA:1606
HP:0001773	Short foot	3339	HSPG2	ORPHA:1606
HP:0001773	Short foot	10277	UBE4B	ORPHA:1606
HP:0001773	Short foot	8514	KCNAB2	ORPHA:1606
HP:0001773	Short foot	473	RERE	ORPHA:1606
HP:0001773	Short foot	63976	PRDM16	ORPHA:1606
HP:0001773	Short foot	54897	CASZ1	ORPHA:1606
HP:0001773	Short foot	9719	ADAMTSL2	OMIM:231050
HP:0001773	Short foot	4796	TONSL	ORPHA:93357
HP:0001773	Short foot	1859	DYRK1A	ORPHA:464311
HP:0001773	Short foot	55343	SLC35C1	OMIM:266265
HP:0001773	Short foot	10236	HNRNPR	OMIM:620073
HP:0001773	Short foot	79718	TBL1XR1	OMIM:602342
HP:0001773	Short foot	23556	PIGN	ORPHA:280633
HP:0001773	Short foot	3636	INPPL1	OMIM:258480
HP:0001773	Short foot	7750	ZMYM2	OMIM:619522
HP:0001773	Short foot	3800	KIF5C	OMIM:615282
HP:0001773	Short foot	5159	PDGFRB	OMIM:601812
HP:0001773	Short foot	54928	BPNT2	OMIM:614078
HP:0001773	Short foot	81887	LAS1L	ORPHA:3459
HP:0001773	Short foot	81887	LAS1L	OMIM:309585
HP:0001773	Short foot	6473	SHOX	ORPHA:314795
HP:0001773	Short foot	2239	GPC4	ORPHA:373
HP:0001773	Short foot	2239	GPC4	OMIM:312870
HP:0001773	Short foot	2719	GPC3	ORPHA:373
HP:0001773	Short foot	2719	GPC3	OMIM:312870
HP:0001773	Short foot	8242	KDM5C	OMIM:300534
HP:0001773	Short foot	23162	MAPK8IP3	OMIM:618443
HP:0001773	Short foot	2332	FMR1	ORPHA:261483
HP:0001773	Short foot	1836	SLC26A2	ORPHA:93298
HP:0001773	Short foot	7476	WNT7A	OMIM:276820
HP:0001773	Short foot	9321	TRIP11	ORPHA:93299
HP:0001773	Short foot	147372	CCBE1	OMIM:235510
HP:0001773	Short foot	9130	FAM50A	OMIM:300261
HP:0001773	Short foot	1513	CTSK	ORPHA:763
HP:0001773	Short foot	8295	TRRAP	OMIM:618454
HP:0001773	Short foot	7227	TRPS1	OMIM:190351
HP:0001773	Short foot	25886	POC1A	OMIM:614813
HP:0001773	Short foot	3480	IGF1R	OMIM:270450
HP:0001773	Short foot	3762	KCNJ5	ORPHA:37553
HP:0001773	Short foot	1281	COL3A1	ORPHA:2500
HP:0001773	Short foot	4054	LTBP3	OMIM:617809
HP:0001773	Short foot	10075	HUWE1	OMIM:309590
HP:0001833	Long foot	2316	FLNA	OMIM:305620
HP:0001833	Long foot	8925	HERC1	ORPHA:457359
HP:0001833	Long foot	8925	HERC1	OMIM:617011
HP:0001833	Long foot	65109	UPF3B	OMIM:300676
HP:0001833	Long foot	64324	NSD1	OMIM:117550
HP:0001833	Long foot	23512	SUZ12	OMIM:618786
HP:0001833	Long foot	440	ASNS	OMIM:615574
HP:0001833	Long foot	9158	FIBP	ORPHA:500095
HP:0001833	Long foot	9158	FIBP	OMIM:617107
HP:0001833	Long foot	26580	BSCL2	OMIM:269700
HP:0001833	Long foot	26580	BSCL2	ORPHA:528
HP:0001833	Long foot	3643	INSR	OMIM:246200
HP:0001833	Long foot	3643	INSR	ORPHA:508
HP:0001833	Long foot	100151683	RNU4ATAC	OMIM:210710
HP:0001833	Long foot	9487	PIGL	OMIM:280000
HP:0001833	Long foot	11128	POLR3A	OMIM:264090
HP:0001833	Long foot	5468	PPARG	ORPHA:528
HP:0001833	Long foot	10555	AGPAT2	ORPHA:528
HP:0001833	Long foot	10555	AGPAT2	OMIM:608594
HP:0001833	Long foot	284119	CAVIN1	ORPHA:528
HP:0001833	Long foot	2353	FOS	ORPHA:528
HP:0001833	Long foot	857	CAV1	ORPHA:528
HP:0001833	Long foot	8726	EED	OMIM:617561
HP:0001833	Long foot	5159	PDGFRB	OMIM:616592
HP:0001833	Long foot	4763	NF1	ORPHA:363700
HP:0001833	Long foot	4763	NF1	ORPHA:97685
HP:0001833	Long foot	6197	RPS6KA3	OMIM:300844
HP:0001833	Long foot	6492	SIM1	ORPHA:171829
HP:0001833	Long foot	51111	KMT5B	OMIM:617788
HP:0001833	Long foot	29072	SETD2	OMIM:616831
HP:0001833	Long foot	55690	PACS1	OMIM:615009
HP:0001833	Long foot	89910	UBE3B	ORPHA:2707
HP:0001833	Long foot	4221	MEN1	ORPHA:99725
HP:0001833	Long foot	9049	AIP	ORPHA:99725
HP:0008138	Equinus calcaneus	10804	GJB6	ORPHA:477
HP:0008138	Equinus calcaneus	2706	GJB2	ORPHA:477
HP:0008138	Equinus calcaneus	3032	HADHB	ORPHA:746
HP:0008138	Equinus calcaneus	3030	HADHA	ORPHA:746
HP:0008138	Equinus calcaneus	6857	SYT1	ORPHA:522077
HP:0008138	Equinus calcaneus	3236	HOXD10	OMIM:192950
HP:0008138	Equinus calcaneus	165	AEBP1	ORPHA:536532
HP:0008138	Equinus calcaneus	2200	FBN1	OMIM:154700
HP:0031595	Abnormal P wave	7092	TLL1	ORPHA:99106
HP:0031595	Abnormal P wave	4878	NPPA	OMIM:615745
HP:0031595	Abnormal P wave	6331	SCN5A	OMIM:608567
HP:0031595	Abnormal P wave	2010	EMD	OMIM:310300
HP:0031595	Abnormal P wave	2702	GJA5	OMIM:614049
HP:0031595	Abnormal P wave	55800	SCN3B	OMIM:613120
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	6792	CDKL5	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	3736	KCNA1	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	9091	PIGQ	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	2775	GNAO1	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	81603	TRIM8	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	2902	GRIN1	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	79751	SLC25A22	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	150094	SIK1	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	8573	CASK	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	23312	DMXL2	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	2917	GRM7	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	170302	ARX	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	11284	PNKP	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	6326	SCN2A	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	51227	PIGP	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	6324	SCN1B	ORPHA:1934
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	4761	NEUROD2	ORPHA:1934
HP:0011193	EEG with focal spikes	1203	CLN5	ORPHA:228360
HP:0011193	EEG with focal spikes	1137	CHRNA4	ORPHA:98784
HP:0011193	EEG with focal spikes	1135	CHRNA2	ORPHA:98784
HP:0011193	EEG with focal spikes	57010	CABP4	ORPHA:98784
HP:0011193	EEG with focal spikes	1141	CHRNB2	ORPHA:98784
HP:0011193	EEG with focal spikes	57582	KCNT1	ORPHA:98784
HP:0011193	EEG with focal spikes	1392	CRH	ORPHA:98784
HP:0011193	EEG with focal spikes	9681	DEPDC5	ORPHA:98784
HP:0011193	EEG with focal spikes	57107	PDSS2	ORPHA:255249
HP:0011193	EEG with focal spikes	27235	COQ2	ORPHA:255249
HP:0011193	EEG with focal spikes	54872	PIGG	ORPHA:488635
HP:0011193	EEG with focal spikes	54872	PIGG	OMIM:616917
HP:0011193	EEG with focal spikes	1183	CLCN4	ORPHA:485350
HP:0011193	EEG with focal spikes	5290	PIK3CA	ORPHA:99802
HP:0011193	EEG with focal spikes	2475	MTOR	ORPHA:99802
HP:0011193	EEG with focal spikes	10000	AKT3	ORPHA:99802
HP:0011193	EEG with focal spikes	9361	LONP1	ORPHA:79243
HP:0011193	EEG with focal spikes	5160	PDHA1	ORPHA:79243
HP:0011193	EEG with focal spikes	26047	CNTNAP2	ORPHA:163681
HP:0011193	EEG with focal spikes	6857	SYT1	ORPHA:522077
HP:0011193	EEG with focal spikes	7030	TFE3	OMIM:301066
HP:0011193	EEG with focal spikes	9289	ADGRG1	ORPHA:98889
HP:0011193	EEG with focal spikes	5297	PI4KA	ORPHA:98889
HP:0011193	EEG with focal spikes	27286	SRPX2	ORPHA:98889
HP:0011193	EEG with focal spikes	2903	GRIN2A	ORPHA:98818
HP:0011193	EEG with focal spikes	23229	ARHGEF9	ORPHA:163985
HP:0011193	EEG with focal spikes	2782	GNB1	OMIM:616973
HP:0011194	EEG with series of focal spikes	6857	SYT1	ORPHA:522077
HP:0011195	EEG with focal sharp slow waves	5290	PIK3CA	ORPHA:99802
HP:0011195	EEG with focal sharp slow waves	2475	MTOR	ORPHA:99802
HP:0011195	EEG with focal sharp slow waves	10000	AKT3	ORPHA:99802
HP:0011195	EEG with focal sharp slow waves	1759	DNM1	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	2562	GABRB3	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	5602	MAPK10	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	773	CACNA1A	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	6323	SCN1A	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	23316	CUX2	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	1106	CHD2	ORPHA:2382
HP:0011195	EEG with focal sharp slow waves	283987	HID1	OMIM:619983
HP:0011195	EEG with focal sharp slow waves	2782	GNB1	OMIM:616973
HP:0011196	EEG with focal sharp waves	27286	SRPX2	ORPHA:163721
HP:0011196	EEG with focal sharp waves	2903	GRIN2A	ORPHA:163721
HP:0011196	EEG with focal sharp waves	10730	YME1L1	OMIM:617302
HP:0011196	EEG with focal sharp waves	29968	PSAT1	ORPHA:284417
HP:0011196	EEG with focal sharp waves	9361	LONP1	ORPHA:79243
HP:0011196	EEG with focal sharp waves	5160	PDHA1	ORPHA:79243
HP:0011196	EEG with focal sharp waves	6857	SYT1	ORPHA:522077
HP:0011196	EEG with focal sharp waves	773	CACNA1A	ORPHA:569
HP:0011196	EEG with focal sharp waves	112476	PRRT2	ORPHA:569
HP:0011196	EEG with focal sharp waves	6323	SCN1A	ORPHA:569
HP:0011196	EEG with focal sharp waves	477	ATP1A2	ORPHA:569
HP:0011196	EEG with focal sharp waves	57465	TBC1D24	ORPHA:163727
HP:0011197	EEG with focal spike waves	6304	SATB1	OMIM:619229
HP:0011197	EEG with focal spike waves	10815	CPLX1	ORPHA:352582
HP:0011197	EEG with focal spike waves	6513	SLC2A1	ORPHA:1942
HP:0011197	EEG with focal spike waves	8831	SYNGAP1	ORPHA:1942
HP:0011197	EEG with focal spike waves	1173	AP2M1	ORPHA:1942
HP:0011197	EEG with focal spike waves	6323	SCN1A	ORPHA:1942
HP:0011197	EEG with focal spike waves	340533	NEXMIF	ORPHA:1942
HP:0011197	EEG with focal spike waves	1106	CHD2	ORPHA:1942
HP:0011197	EEG with focal spike waves	6529	SLC6A1	ORPHA:1942
HP:0011197	EEG with focal spike waves	1605	DAG1	ORPHA:370997
HP:0011197	EEG with focal spike waves	23732	FRRS1L	ORPHA:725
HP:0011197	EEG with focal spike waves	2903	GRIN2A	ORPHA:725
HP:0011197	EEG with focal spike waves	57465	TBC1D24	ORPHA:163727
HP:0011197	EEG with focal spike waves	23096	IQSEC2	ORPHA:217377
HP:0011197	EEG with focal spike waves	27286	SRPX2	ORPHA:1945
HP:0011197	EEG with focal spike waves	2566	GABRG2	ORPHA:1945
HP:0011198	EEG with generalized epileptiform discharges	401474	SAMD12	OMIM:601068
HP:0011198	EEG with generalized epileptiform discharges	57465	TBC1D24	ORPHA:352596
HP:0011198	EEG with generalized epileptiform discharges	56910	STARD7	OMIM:607876
HP:0011198	EEG with generalized epileptiform discharges	29968	PSAT1	ORPHA:284417
HP:0011198	EEG with generalized epileptiform discharges	84992	PIGY	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	84720	PIGO	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	93210	PGAP3	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	27315	PGAP2	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	55650	PIGV	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	9487	PIGL	ORPHA:247262
HP:0011198	EEG with generalized epileptiform discharges	1173	AP2M1	OMIM:618587
HP:0011198	EEG with generalized epileptiform discharges	1173	AP2M1	ORPHA:1942
HP:0011198	EEG with generalized epileptiform discharges	55689	YEATS2	OMIM:615127
HP:0011198	EEG with generalized epileptiform discharges	60482	SLC5A7	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	4649	MYO9A	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	1305	COL13A1	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	1103	CHAT	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	6576	SLC25A1	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	6843	VAMP1	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	375790	AGRN	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	127833	SYT2	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	6572	SLC18A3	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	6616	SNAP25	ORPHA:98914
HP:0011198	EEG with generalized epileptiform discharges	2563	GABRD	ORPHA:307
HP:0011198	EEG with generalized epileptiform discharges	1181	CLCN2	ORPHA:307
HP:0011198	EEG with generalized epileptiform discharges	3786	KCNQ3	ORPHA:307
HP:0011198	EEG with generalized epileptiform discharges	22858	CILK1	ORPHA:307
HP:0011198	EEG with generalized epileptiform discharges	785	CACNB4	ORPHA:307
HP:0011198	EEG with generalized epileptiform discharges	785	CACNB4	OMIM:607682
HP:0011198	EEG with generalized epileptiform discharges	1476	CSTB	OMIM:254800
HP:0011198	EEG with generalized epileptiform discharges	1476	CSTB	ORPHA:308
HP:0011198	EEG with generalized epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0011198	EEG with generalized epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0011198	EEG with generalized epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0011198	EEG with generalized epileptiform discharges	144165	PRICKLE1	ORPHA:308
HP:0011198	EEG with generalized epileptiform discharges	950	SCARB2	ORPHA:308
HP:0011198	EEG with generalized epileptiform discharges	1106	CHD2	ORPHA:1942
HP:0011198	EEG with generalized epileptiform discharges	6529	SLC6A1	ORPHA:1942
HP:0011198	EEG with generalized epileptiform discharges	3155	HMGCL	ORPHA:20
HP:0011198	EEG with generalized epileptiform discharges	8243	SMC1A	OMIM:301044
HP:0011198	EEG with generalized epileptiform discharges	199857	ALG14	OMIM:619036
HP:0011198	EEG with generalized epileptiform discharges	340533	NEXMIF	OMIM:300912
HP:0011198	EEG with generalized epileptiform discharges	9853	RUSC2	OMIM:617773
HP:0011198	EEG with generalized epileptiform discharges	343450	KCNT2	OMIM:617771
HP:0011198	EEG with generalized epileptiform discharges	2775	GNAO1	OMIM:615473
HP:0011198	EEG with generalized epileptiform discharges	2775	GNAO1	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	10564	ARFGEF2	OMIM:608097
HP:0011198	EEG with generalized epileptiform discharges	7355	SLC35A2	ORPHA:356961
HP:0011198	EEG with generalized epileptiform discharges	7355	SLC35A2	OMIM:300896
HP:0011198	EEG with generalized epileptiform discharges	1798	DPAGT1	OMIM:608093
HP:0011198	EEG with generalized epileptiform discharges	1798	DPAGT1	ORPHA:86309
HP:0011198	EEG with generalized epileptiform discharges	9526	MPDU1	OMIM:609180
HP:0011198	EEG with generalized epileptiform discharges	9526	MPDU1	ORPHA:79323
HP:0011198	EEG with generalized epileptiform discharges	6328	SCN3A	OMIM:617938
HP:0011198	EEG with generalized epileptiform discharges	6328	SCN3A	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	22845	DOLK	ORPHA:91131
HP:0011198	EEG with generalized epileptiform discharges	22845	DOLK	OMIM:610768
HP:0011198	EEG with generalized epileptiform discharges	8496	PPFIBP1	OMIM:620024
HP:0011198	EEG with generalized epileptiform discharges	170302	ARX	OMIM:308350
HP:0011198	EEG with generalized epileptiform discharges	170302	ARX	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	170302	ARX	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	2258	FGF13	OMIM:301058
HP:0011198	EEG with generalized epileptiform discharges	2258	FGF13	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	51112	TRAPPC12	ORPHA:500144
HP:0011198	EEG with generalized epileptiform discharges	51112	TRAPPC12	OMIM:617669
HP:0011198	EEG with generalized epileptiform discharges	26275	HIBCH	ORPHA:88639
HP:0011198	EEG with generalized epileptiform discharges	64801	ARV1	OMIM:617020
HP:0011198	EEG with generalized epileptiform discharges	64801	ARV1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	79868	ALG13	OMIM:300884
HP:0011198	EEG with generalized epileptiform discharges	79868	ALG13	ORPHA:324422
HP:0011198	EEG with generalized epileptiform discharges	8867	SYNJ1	OMIM:617389
HP:0011198	EEG with generalized epileptiform discharges	8867	SYNJ1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	10659	CELF2	OMIM:619561
HP:0011198	EEG with generalized epileptiform discharges	10659	CELF2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	51506	UFC1	OMIM:618076
HP:0011198	EEG with generalized epileptiform discharges	3745	KCNB1	OMIM:616056
HP:0011198	EEG with generalized epileptiform discharges	3745	KCNB1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	6487	ST3GAL3	OMIM:615006
HP:0011198	EEG with generalized epileptiform discharges	6487	ST3GAL3	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	2782	GNB1	OMIM:616973
HP:0011198	EEG with generalized epileptiform discharges	7280	TUBB2A	OMIM:615763
HP:0011198	EEG with generalized epileptiform discharges	112939	NACC1	ORPHA:500545
HP:0011198	EEG with generalized epileptiform discharges	10565	ARFGEF1	OMIM:619964
HP:0011198	EEG with generalized epileptiform discharges	55780	ERMARD	ORPHA:75857
HP:0011198	EEG with generalized epileptiform discharges	55780	ERMARD	OMIM:615544
HP:0011198	EEG with generalized epileptiform discharges	3767	KCNJ11	ORPHA:79134
HP:0011198	EEG with generalized epileptiform discharges	3767	KCNJ11	OMIM:618856
HP:0011198	EEG with generalized epileptiform discharges	79731	NARS2	ORPHA:79134
HP:0011198	EEG with generalized epileptiform discharges	6833	ABCC8	ORPHA:79134
HP:0011198	EEG with generalized epileptiform discharges	23097	CDK19	OMIM:618916
HP:0011198	EEG with generalized epileptiform discharges	23097	CDK19	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	4763	NF1	OMIM:162200
HP:0011198	EEG with generalized epileptiform discharges	84340	GFM2	ORPHA:565624
HP:0011198	EEG with generalized epileptiform discharges	84340	GFM2	OMIM:618397
HP:0011198	EEG with generalized epileptiform discharges	2560	GABRB1	OMIM:617153
HP:0011198	EEG with generalized epileptiform discharges	79641	ROGDI	OMIM:226750
HP:0011198	EEG with generalized epileptiform discharges	150094	SIK1	OMIM:616341
HP:0011198	EEG with generalized epileptiform discharges	150094	SIK1	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	150094	SIK1	ORPHA:1935
HP:0011198	EEG with generalized epileptiform discharges	150094	SIK1	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	535	ATP6V0A1	OMIM:619970
HP:0011198	EEG with generalized epileptiform discharges	8120	AP3B2	OMIM:617276
HP:0011198	EEG with generalized epileptiform discharges	8120	AP3B2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	5530	PPP3CA	OMIM:617711
HP:0011198	EEG with generalized epileptiform discharges	5530	PPP3CA	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1759	DNM1	OMIM:616346
HP:0011198	EEG with generalized epileptiform discharges	1759	DNM1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1759	DNM1	OMIM:620352
HP:0011198	EEG with generalized epileptiform discharges	6709	SPTAN1	OMIM:613477
HP:0011198	EEG with generalized epileptiform discharges	6709	SPTAN1	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	4915	NTRK2	OMIM:617830
HP:0011198	EEG with generalized epileptiform discharges	4915	NTRK2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	4915	NTRK2	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	9326	ZNHIT3	ORPHA:2836
HP:0011198	EEG with generalized epileptiform discharges	9326	ZNHIT3	OMIM:260565
HP:0011198	EEG with generalized epileptiform discharges	547	KIF1A	ORPHA:2836
HP:0011198	EEG with generalized epileptiform discharges	7965	AIMP2	OMIM:618006
HP:0011198	EEG with generalized epileptiform discharges	3054	HCFC1	OMIM:309541
HP:0011198	EEG with generalized epileptiform discharges	26999	CYFIP2	OMIM:618008
HP:0011198	EEG with generalized epileptiform discharges	26999	CYFIP2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	9361	LONP1	ORPHA:79243
HP:0011198	EEG with generalized epileptiform discharges	5160	PDHA1	ORPHA:79243
HP:0011198	EEG with generalized epileptiform discharges	501	ALDH7A1	ORPHA:3006
HP:0011198	EEG with generalized epileptiform discharges	11212	PLPBP	ORPHA:3006
HP:0011198	EEG with generalized epileptiform discharges	8131	NPRL3	ORPHA:98820
HP:0011198	EEG with generalized epileptiform discharges	10641	NPRL2	ORPHA:98820
HP:0011198	EEG with generalized epileptiform discharges	9681	DEPDC5	ORPHA:98820
HP:0011198	EEG with generalized epileptiform discharges	5805	PTS	ORPHA:13
HP:0011198	EEG with generalized epileptiform discharges	1327	COX4I1	OMIM:619060
HP:0011198	EEG with generalized epileptiform discharges	283987	HID1	OMIM:619983
HP:0011198	EEG with generalized epileptiform discharges	2906	GRIN2D	OMIM:617162
HP:0011198	EEG with generalized epileptiform discharges	2906	GRIN2D	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	25930	PTPN23	OMIM:618890
HP:0011198	EEG with generalized epileptiform discharges	5277	PIGA	OMIM:300868
HP:0011198	EEG with generalized epileptiform discharges	5277	PIGA	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	23327	NEDD4L	OMIM:617201
HP:0011198	EEG with generalized epileptiform discharges	1822	ATN1	OMIM:618494
HP:0011198	EEG with generalized epileptiform discharges	132158	GLYCTK	OMIM:220120
HP:0011198	EEG with generalized epileptiform discharges	4761	NEUROD2	OMIM:618374
HP:0011198	EEG with generalized epileptiform discharges	4761	NEUROD2	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	84896	ATAD1	OMIM:618011
HP:0011198	EEG with generalized epileptiform discharges	523	ATP6V1A	OMIM:618012
HP:0011198	EEG with generalized epileptiform discharges	523	ATP6V1A	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	2257	FGF12	OMIM:617166
HP:0011198	EEG with generalized epileptiform discharges	2257	FGF12	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1641	DCX	ORPHA:2148
HP:0011198	EEG with generalized epileptiform discharges	284184	NDUFAF8	OMIM:618776
HP:0011198	EEG with generalized epileptiform discharges	6304	SATB1	OMIM:619229
HP:0011198	EEG with generalized epileptiform discharges	3737	KCNA2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	10991	SLC38A3	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	51343	FZR1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	22906	TRAK1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1917	EEF1A2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1917	EEF1A2	OMIM:616409
HP:0011198	EEG with generalized epileptiform discharges	2561	GABRB2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	8831	SYNGAP1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	7532	YWHAG	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	79876	UBA5	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	2558	GABRA5	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	781	CACNA2D1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	116150	NUS1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	774	CACNA1B	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	1213	CLTC	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	51741	WWOX	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	23334	SZT2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	51412	ACTL6B	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	348980	HCN1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	6506	SLC1A2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	6506	SLC1A2	OMIM:617105
HP:0011198	EEG with generalized epileptiform discharges	477	ATP1A2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	284111	SLC13A5	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	25977	NECAP1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	16	AARS1	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	6334	SCN8A	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	22866	CNKSR2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	9568	GABBR2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	9568	GABBR2	OMIM:617904
HP:0011198	EEG with generalized epileptiform discharges	2555	GABRA2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	55152	DALRD3	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	773	CACNA1A	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	25973	PARS2	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	25973	PARS2	OMIM:618437
HP:0011198	EEG with generalized epileptiform discharges	79947	DHDDS	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	478	ATP1A3	ORPHA:442835
HP:0011198	EEG with generalized epileptiform discharges	26040	SETBP1	OMIM:269150
HP:0011198	EEG with generalized epileptiform discharges	26040	SETBP1	ORPHA:798
HP:0011198	EEG with generalized epileptiform discharges	443	ASPA	OMIM:271900
HP:0011198	EEG with generalized epileptiform discharges	6792	CDKL5	OMIM:300672
HP:0011198	EEG with generalized epileptiform discharges	6792	CDKL5	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	6792	CDKL5	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	149371	EXOC8	OMIM:619076
HP:0011198	EEG with generalized epileptiform discharges	23316	CUX2	OMIM:618141
HP:0011198	EEG with generalized epileptiform discharges	6812	STXBP1	OMIM:612164
HP:0011198	EEG with generalized epileptiform discharges	6711	SPTBN1	OMIM:619475
HP:0011198	EEG with generalized epileptiform discharges	55699	IARS2	OMIM:616007
HP:0011198	EEG with generalized epileptiform discharges	3747	KCNC2	OMIM:619913
HP:0011198	EEG with generalized epileptiform discharges	92609	TIMM50	OMIM:617698
HP:0011198	EEG with generalized epileptiform discharges	92609	TIMM50	ORPHA:505216
HP:0011198	EEG with generalized epileptiform discharges	8452	CUL3	OMIM:619239
HP:0011198	EEG with generalized epileptiform discharges	116115	ZNF526	OMIM:619877
HP:0011198	EEG with generalized epileptiform discharges	85440	DOCK7	ORPHA:411986
HP:0011198	EEG with generalized epileptiform discharges	85440	DOCK7	OMIM:615859
HP:0011198	EEG with generalized epileptiform discharges	538	ATP7A	OMIM:309400
HP:0011198	EEG with generalized epileptiform discharges	378884	NHLRC1	ORPHA:501
HP:0011198	EEG with generalized epileptiform discharges	7957	EPM2A	ORPHA:501
HP:0011198	EEG with generalized epileptiform discharges	85365	ALG2	ORPHA:79326
HP:0011198	EEG with generalized epileptiform discharges	85365	ALG2	OMIM:607906
HP:0011198	EEG with generalized epileptiform discharges	4247	MGAT2	ORPHA:79329
HP:0011198	EEG with generalized epileptiform discharges	728294	D2HGDH	OMIM:600721
HP:0011198	EEG with generalized epileptiform discharges	2571	GAD1	OMIM:619124
HP:0011198	EEG with generalized epileptiform discharges	60558	GUF1	OMIM:617065
HP:0011198	EEG with generalized epileptiform discharges	60558	GUF1	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	51124	IER3IP1	OMIM:614231
HP:0011198	EEG with generalized epileptiform discharges	26227	PHGDH	OMIM:601815
HP:0011198	EEG with generalized epileptiform discharges	7358	UGDH	OMIM:618792
HP:0011198	EEG with generalized epileptiform discharges	56947	MFF	ORPHA:485421
HP:0011198	EEG with generalized epileptiform discharges	56947	MFF	OMIM:617086
HP:0011198	EEG with generalized epileptiform discharges	2904	GRIN2B	OMIM:616139
HP:0011198	EEG with generalized epileptiform discharges	2904	GRIN2B	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	4190	MDH1	OMIM:618959
HP:0011198	EEG with generalized epileptiform discharges	9373	PLAA	ORPHA:521426
HP:0011198	EEG with generalized epileptiform discharges	55704	CCDC88A	OMIM:617507
HP:0011198	EEG with generalized epileptiform discharges	10297	APC2	OMIM:618677
HP:0011198	EEG with generalized epileptiform discharges	9440	MED17	OMIM:613668
HP:0011198	EEG with generalized epileptiform discharges	221692	PHACTR1	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	221692	PHACTR1	OMIM:618298
HP:0011198	EEG with generalized epileptiform discharges	10695	CNPY3	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	10695	CNPY3	OMIM:617929
HP:0011198	EEG with generalized epileptiform discharges	23236	PLCB1	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	23236	PLCB1	OMIM:613722
HP:0011198	EEG with generalized epileptiform discharges	6326	SCN2A	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	6326	SCN2A	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	11152	WDR45	ORPHA:3451
HP:0011198	EEG with generalized epileptiform discharges	10681	GNB5	ORPHA:542306
HP:0011198	EEG with generalized epileptiform discharges	55739	NAXD	OMIM:618321
HP:0011198	EEG with generalized epileptiform discharges	284098	PIGW	OMIM:616025
HP:0011198	EEG with generalized epileptiform discharges	440	ASNS	OMIM:615574
HP:0011198	EEG with generalized epileptiform discharges	777	CACNA1E	OMIM:618285
HP:0011198	EEG with generalized epileptiform discharges	2562	GABRB3	OMIM:617113
HP:0011198	EEG with generalized epileptiform discharges	51227	PIGP	OMIM:617599
HP:0011198	EEG with generalized epileptiform discharges	51227	PIGP	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	3785	KCNQ2	ORPHA:439218
HP:0011198	EEG with generalized epileptiform discharges	79718	TBL1XR1	OMIM:616944
HP:0011198	EEG with generalized epileptiform discharges	51294	PCDH12	OMIM:251280
HP:0011198	EEG with generalized epileptiform discharges	64116	SLC39A8	ORPHA:468699
HP:0011198	EEG with generalized epileptiform discharges	5048	PAFAH1B1	ORPHA:95232
HP:0011198	EEG with generalized epileptiform discharges	6509	SLC1A4	ORPHA:447997
HP:0011198	EEG with generalized epileptiform discharges	2801	GOLGA2	OMIM:620240
HP:0011198	EEG with generalized epileptiform discharges	10195	ALG3	OMIM:601110
HP:0011198	EEG with generalized epileptiform discharges	51733	UPB1	OMIM:613161
HP:0011198	EEG with generalized epileptiform discharges	7040	TGFB1	OMIM:618213
HP:0011198	EEG with generalized epileptiform discharges	1496	CTNNA2	OMIM:618174
HP:0011198	EEG with generalized epileptiform discharges	55753	OGDHL	OMIM:619701
HP:0011198	EEG with generalized epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0011198	EEG with generalized epileptiform discharges	81603	TRIM8	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	79751	SLC25A22	ORPHA:1935
HP:0011198	EEG with generalized epileptiform discharges	79751	SLC25A22	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	3736	KCNA1	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	9091	PIGQ	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	2902	GRIN1	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	8573	CASK	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	23312	DMXL2	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	2917	GRM7	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	11284	PNKP	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	6324	SCN1B	ORPHA:1934
HP:0011198	EEG with generalized epileptiform discharges	6513	SLC2A1	ORPHA:64280
HP:0011198	EEG with generalized epileptiform discharges	2554	GABRA1	ORPHA:64280
HP:0011198	EEG with generalized epileptiform discharges	8912	CACNA1H	ORPHA:64280
HP:0011198	EEG with generalized epileptiform discharges	8629	JRK	ORPHA:64280
HP:0011198	EEG with generalized epileptiform discharges	23067	SETD1B	OMIM:619000
HP:0011198	EEG with generalized epileptiform discharges	6323	SCN1A	OMIM:619317
HP:0011198	EEG with generalized epileptiform discharges	3778	KCNMA1	OMIM:609446
HP:0011198	EEG with generalized epileptiform discharges	3778	KCNMA1	ORPHA:79137
HP:0011198	EEG with generalized epileptiform discharges	114327	EFHC1	OMIM:607631
HP:0011198	EEG with generalized epileptiform discharges	2566	GABRG2	OMIM:607681
HP:0011198	EEG with generalized epileptiform discharges	1203	CLN5	ORPHA:228360
HP:0011198	EEG with generalized epileptiform discharges	6857	SYT1	ORPHA:522077
HP:0011198	EEG with generalized epileptiform discharges	51604	PIGT	ORPHA:369837
HP:0011198	EEG with generalized epileptiform discharges	10157	AASS	ORPHA:2203
HP:0011198	EEG with generalized epileptiform discharges	9570	GOSR2	OMIM:614018
HP:0011198	EEG with generalized epileptiform discharges	57094	CPA6	OMIM:614417
HP:0011198	EEG with generalized epileptiform discharges	6335	SCN9A	ORPHA:36387
HP:0011198	EEG with generalized epileptiform discharges	112755	STX1B	ORPHA:36387
HP:0011198	EEG with generalized epileptiform discharges	84059	ADGRV1	ORPHA:36387
HP:0011198	EEG with generalized epileptiform discharges	51422	PRKAG2	OMIM:261740
HP:0011198	EEG with generalized epileptiform discharges	1020	CDK5	OMIM:616342
HP:0011198	EEG with generalized epileptiform discharges	94005	PIGS	OMIM:618143
HP:0011198	EEG with generalized epileptiform discharges	8818	DPM2	ORPHA:329178
HP:0011198	EEG with generalized epileptiform discharges	708	C1QBP	OMIM:617713
HP:0011198	EEG with generalized epileptiform discharges	2744	GLS	OMIM:618328
HP:0011198	EEG with generalized epileptiform discharges	7841	MOGS	OMIM:606056
HP:0011198	EEG with generalized epileptiform discharges	57176	VARS2	OMIM:615917
HP:0011198	EEG with generalized epileptiform discharges	7707	ZNF148	OMIM:617260
HP:0011198	EEG with generalized epileptiform discharges	440138	ALG11	ORPHA:280071
HP:0011198	EEG with generalized epileptiform discharges	91137	SLC25A46	OMIM:619303
HP:0011198	EEG with generalized epileptiform discharges	18	ABAT	OMIM:613163
HP:0011198	EEG with generalized epileptiform discharges	4905	NSF	OMIM:619340
HP:0011198	EEG with generalized epileptiform discharges	1785	DNM2	OMIM:615368
HP:0011198	EEG with generalized epileptiform discharges	221927	BRAT1	OMIM:614498
HP:0011198	EEG with generalized epileptiform discharges	55163	PNPO	ORPHA:79096
HP:0011198	EEG with generalized epileptiform discharges	5290	PIK3CA	ORPHA:99802
HP:0011198	EEG with generalized epileptiform discharges	2475	MTOR	ORPHA:99802
HP:0011198	EEG with generalized epileptiform discharges	10000	AKT3	ORPHA:99802
HP:0011198	EEG with generalized epileptiform discharges	25814	ATXN10	ORPHA:98761
HP:0011198	EEG with generalized epileptiform discharges	2746	GLUD1	ORPHA:35878
HP:0011198	EEG with generalized epileptiform discharges	23102	TBC1D2B	OMIM:619323
HP:0011198	EEG with generalized epileptiform discharges	3746	KCNC1	OMIM:616187
HP:0011198	EEG with generalized epileptiform discharges	10815	CPLX1	OMIM:617976
HP:0011198	EEG with generalized epileptiform discharges	55367	PIDD1	OMIM:619827
HP:0011198	EEG with generalized epileptiform discharges	93627	TBCK	ORPHA:488632
HP:0011198	EEG with generalized epileptiform discharges	2055	CLN8	ORPHA:1947
HP:0011198	EEG with generalized epileptiform discharges	57526	PCDH19	ORPHA:33069
HP:0011198	EEG with generalized epileptiform discharges	8659	ALDH4A1	ORPHA:79101
HP:0011198	EEG with generalized epileptiform discharges	112476	PRRT2	ORPHA:569
HP:0011198	EEG with generalized epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0011198	EEG with generalized epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0011198	EEG with generalized epileptiform discharges	2896	GRN	OMIM:614706
HP:0011198	EEG with generalized epileptiform discharges	26047	CNTNAP2	ORPHA:163681
HP:0011199	EEG with generalized sharp slow waves	9361	LONP1	ORPHA:79243
HP:0011199	EEG with generalized sharp slow waves	5160	PDHA1	ORPHA:79243
HP:0011199	EEG with generalized sharp slow waves	8659	ALDH4A1	ORPHA:79101
HP:0011199	EEG with generalized sharp slow waves	773	CACNA1A	ORPHA:569
HP:0011199	EEG with generalized sharp slow waves	112476	PRRT2	ORPHA:569
HP:0011199	EEG with generalized sharp slow waves	6323	SCN1A	ORPHA:569
HP:0011199	EEG with generalized sharp slow waves	477	ATP1A2	ORPHA:569
HP:0011199	EEG with generalized sharp slow waves	501	ALDH7A1	ORPHA:3006
HP:0011199	EEG with generalized sharp slow waves	11212	PLPBP	ORPHA:3006
HP:0011199	EEG with generalized sharp slow waves	51604	PIGT	ORPHA:369837
HP:0008141	Dislocation of toes	2273	FHL1	OMIM:300280
HP:0008142	Delayed calcaneal ossification	1280	COL2A1	OMIM:183900
HP:0008144	Flattening of the talar dome	5251	PHEX	OMIM:307800
HP:0008144	Flattening of the talar dome	5251	PHEX	ORPHA:89936
HP:0001922	Vacuolated lymphocytes	1130	LYST	ORPHA:167
HP:0001922	Vacuolated lymphocytes	26503	SLC17A5	OMIM:604369
HP:0001922	Vacuolated lymphocytes	26503	SLC17A5	OMIM:269920
HP:0001922	Vacuolated lymphocytes	57104	PNPLA2	ORPHA:565612
HP:0001922	Vacuolated lymphocytes	4125	MAN2B1	OMIM:248500
HP:0001922	Vacuolated lymphocytes	5538	PPT1	OMIM:256730
HP:0001922	Vacuolated lymphocytes	2517	FUCA1	OMIM:230000
HP:0001922	Vacuolated lymphocytes	1203	CLN5	OMIM:256731
HP:0001922	Vacuolated lymphocytes	1201	CLN3	OMIM:204200
HP:0001922	Vacuolated lymphocytes	1201	CLN3	ORPHA:228346
HP:0001922	Vacuolated lymphocytes	175	AGA	OMIM:208400
HP:0001922	Vacuolated lymphocytes	2720	GLB1	OMIM:230500
HP:0001922	Vacuolated lymphocytes	4758	NEU1	OMIM:256550
HP:0008148	Impaired epinephrine-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0008148	Impaired epinephrine-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0008148	Impaired epinephrine-induced platelet aggregation	3690	ITGB3	OMIM:619267
HP:0008148	Impaired epinephrine-induced platelet aggregation	5328	PLAU	OMIM:601709
HP:0008148	Impaired epinephrine-induced platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0008148	Impaired epinephrine-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0008148	Impaired epinephrine-induced platelet aggregation	4627	MYH9	OMIM:155100
HP:0008148	Impaired epinephrine-induced platelet aggregation	10019	SH2B3	OMIM:187950
HP:0008148	Impaired epinephrine-induced platelet aggregation	811	CALR	OMIM:187950
HP:0008148	Impaired epinephrine-induced platelet aggregation	7066	THPO	OMIM:187950
HP:0008148	Impaired epinephrine-induced platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0008148	Impaired epinephrine-induced platelet aggregation	8328	GFI1B	OMIM:187900
HP:0034003	Broad medial eyebrow	1642	DDB1	OMIM:619426
HP:0034006	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio	5351	PLOD1	OMIM:225400
HP:0034007	Posterior atrophy of corpus callosum	10533	ATG7	OMIM:619422
HP:0034008	Opto-chiasmatic atrophy	3954	LETM1	OMIM:620089
HP:0034008	Opto-chiasmatic atrophy	7345	UCHL1	OMIM:615491
HP:0008150	Elevated serum transaminases during infections	29929	ALG6	OMIM:603147
HP:0008150	Elevated serum transaminases during infections	84342	COG8	OMIM:611182
HP:0003265	Neonatal hyperbilirubinemia	2035	EPB41	ORPHA:288
HP:0003265	Neonatal hyperbilirubinemia	2995	GYPC	ORPHA:288
HP:0003265	Neonatal hyperbilirubinemia	6710	SPTB	ORPHA:288
HP:0003265	Neonatal hyperbilirubinemia	6708	SPTA1	ORPHA:288
HP:0003265	Neonatal hyperbilirubinemia	6708	SPTA1	OMIM:130600
HP:0003265	Neonatal hyperbilirubinemia	3479	IGF1	ORPHA:73272
HP:0003265	Neonatal hyperbilirubinemia	7355	SLC35A2	OMIM:300896
HP:0003265	Neonatal hyperbilirubinemia	1371	CPOX	OMIM:618892
HP:0003265	Neonatal hyperbilirubinemia	2876	GPX1	OMIM:614164
HP:0003265	Neonatal hyperbilirubinemia	405753	DUOXA2	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	6528	SLC5A5	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	7038	TG	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	7173	TPO	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	389434	IYD	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	50506	DUOX2	ORPHA:95716
HP:0003265	Neonatal hyperbilirubinemia	7319	UBE2A	ORPHA:163956
HP:0003265	Neonatal hyperbilirubinemia	5048	PAFAH1B1	ORPHA:95232
HP:0003265	Neonatal hyperbilirubinemia	54658	UGT1A1	ORPHA:79234
HP:0003265	Neonatal hyperbilirubinemia	54658	UGT1A1	ORPHA:79235
HP:0003265	Neonatal hyperbilirubinemia	6521	SLC4A1	ORPHA:3202
HP:0003265	Neonatal hyperbilirubinemia	9780	PIEZO1	ORPHA:3202
HP:0003265	Neonatal hyperbilirubinemia	3783	KCNN4	ORPHA:3202
HP:0003265	Neonatal hyperbilirubinemia	7253	TSHR	ORPHA:90673
HP:0003265	Neonatal hyperbilirubinemia	7252	TSHB	ORPHA:90674
HP:0003265	Neonatal hyperbilirubinemia	2203	FBP1	ORPHA:348
HP:0003124	Hypercholesterolemia	26160	IFT172	OMIM:619471
HP:0003124	Hypercholesterolemia	388015	RTL1	ORPHA:254531
HP:0003124	Hypercholesterolemia	388015	RTL1	ORPHA:96184
HP:0003124	Hypercholesterolemia	8788	DLK1	ORPHA:254531
HP:0003124	Hypercholesterolemia	8788	DLK1	ORPHA:96184
HP:0003124	Hypercholesterolemia	55384	MEG3	ORPHA:254531
HP:0003124	Hypercholesterolemia	55384	MEG3	ORPHA:96184
HP:0003124	Hypercholesterolemia	9056	SLC7A7	ORPHA:470
HP:0003124	Hypercholesterolemia	213	ALB	OMIM:616000
HP:0003124	Hypercholesterolemia	213	ALB	ORPHA:86816
HP:0003124	Hypercholesterolemia	23533	PIK3R5	ORPHA:64753
HP:0003124	Hypercholesterolemia	23064	SETX	ORPHA:64753
HP:0003124	Hypercholesterolemia	3990	LIPC	OMIM:614025
HP:0003124	Hypercholesterolemia	64240	ABCG5	OMIM:618666
HP:0003124	Hypercholesterolemia	64240	ABCG5	ORPHA:391665
HP:0003124	Hypercholesterolemia	57122	NUP107	OMIM:618348
HP:0003124	Hypercholesterolemia	57122	NUP107	OMIM:616730
HP:0003124	Hypercholesterolemia	5836	PYGL	OMIM:232700
HP:0003124	Hypercholesterolemia	857	CAV1	OMIM:612526
HP:0003124	Hypercholesterolemia	857	CAV1	ORPHA:528
HP:0003124	Hypercholesterolemia	857	CAV1	OMIM:606721
HP:0003124	Hypercholesterolemia	55775	TDP1	ORPHA:94124
HP:0003124	Hypercholesterolemia	55775	TDP1	OMIM:607250
HP:0003124	Hypercholesterolemia	4023	LPL	OMIM:238600
HP:0003124	Hypercholesterolemia	4023	LPL	OMIM:144250
HP:0003124	Hypercholesterolemia	4952	OCRL	OMIM:309000
HP:0003124	Hypercholesterolemia	4952	OCRL	ORPHA:534
HP:0003124	Hypercholesterolemia	10165	SLC25A13	OMIM:605814
HP:0003124	Hypercholesterolemia	10165	SLC25A13	ORPHA:247598
HP:0003124	Hypercholesterolemia	10165	SLC25A13	ORPHA:247585
HP:0003124	Hypercholesterolemia	5244	ABCB4	ORPHA:69663
HP:0003124	Hypercholesterolemia	84699	CREB3L3	OMIM:619324
HP:0003124	Hypercholesterolemia	182	JAG1	OMIM:118450
HP:0003124	Hypercholesterolemia	2314	FLII	ORPHA:819
HP:0003124	Hypercholesterolemia	23096	IQSEC2	ORPHA:819
HP:0003124	Hypercholesterolemia	10743	RAI1	ORPHA:819
HP:0003124	Hypercholesterolemia	10743	RAI1	OMIM:182290
HP:0003124	Hypercholesterolemia	10522	DEAF1	ORPHA:819
HP:0003124	Hypercholesterolemia	4000	LMNA	OMIM:248370
HP:0003124	Hypercholesterolemia	4000	LMNA	OMIM:151660
HP:0003124	Hypercholesterolemia	4000	LMNA	ORPHA:363618
HP:0003124	Hypercholesterolemia	7274	TTPA	OMIM:277460
HP:0003124	Hypercholesterolemia	859	CAV3	ORPHA:488650
HP:0003124	Hypercholesterolemia	4205	MEF2A	OMIM:608320
HP:0003124	Hypercholesterolemia	348	APOE	ORPHA:412
HP:0003124	Hypercholesterolemia	2542	SLC37A4	ORPHA:79259
HP:0003124	Hypercholesterolemia	7252	TSHB	ORPHA:90674
HP:0003124	Hypercholesterolemia	3949	LDLR	ORPHA:391665
HP:0003124	Hypercholesterolemia	255738	PCSK9	ORPHA:391665
HP:0003124	Hypercholesterolemia	255738	PCSK9	OMIM:603776
HP:0003124	Hypercholesterolemia	26119	LDLRAP1	ORPHA:391665
HP:0003124	Hypercholesterolemia	26119	LDLRAP1	OMIM:603813
HP:0003124	Hypercholesterolemia	338	APOB	ORPHA:391665
HP:0003124	Hypercholesterolemia	338	APOB	OMIM:144010
HP:0003124	Hypercholesterolemia	64241	ABCG8	ORPHA:391665
HP:0003124	Hypercholesterolemia	64241	ABCG8	OMIM:210250
HP:0003124	Hypercholesterolemia	25839	COG4	ORPHA:263501
HP:0003124	Hypercholesterolemia	79989	IFT56	OMIM:619534
HP:0003124	Hypercholesterolemia	11284	PNKP	OMIM:616267
HP:0003124	Hypercholesterolemia	537	ATP6AP1	OMIM:300972
HP:0003124	Hypercholesterolemia	3988	LIPA	OMIM:278000
HP:0003124	Hypercholesterolemia	3988	LIPA	ORPHA:75234
HP:0003124	Hypercholesterolemia	9149	DYRK1B	OMIM:615812
HP:0003124	Hypercholesterolemia	1733	DIO1	OMIM:619855
HP:0003124	Hypercholesterolemia	5257	PHKB	ORPHA:79240
HP:0003124	Hypercholesterolemia	147007	TMEM199	OMIM:616829
HP:0003124	Hypercholesterolemia	284654	RSPO1	OMIM:610644
HP:0003124	Hypercholesterolemia	84317	CCDC115	OMIM:616828
HP:0003124	Hypercholesterolemia	5468	PPARG	ORPHA:528
HP:0003124	Hypercholesterolemia	10555	AGPAT2	ORPHA:528
HP:0003124	Hypercholesterolemia	284119	CAVIN1	ORPHA:528
HP:0003124	Hypercholesterolemia	26580	BSCL2	ORPHA:528
HP:0003124	Hypercholesterolemia	2353	FOS	ORPHA:528
HP:0003124	Hypercholesterolemia	1581	CYP7A1	ORPHA:209902
HP:0003124	Hypercholesterolemia	1071	CETP	ORPHA:79506
HP:0003124	Hypercholesterolemia	345	APOC3	ORPHA:79506
HP:0003124	Hypercholesterolemia	6907	TBL1X	OMIM:301033
HP:0003124	Hypercholesterolemia	5256	PHKA2	ORPHA:264580
HP:0003124	Hypercholesterolemia	5256	PHKA2	OMIM:306000
HP:0003124	Hypercholesterolemia	5261	PHKG2	ORPHA:264580
HP:0003124	Hypercholesterolemia	113220	KIF12	OMIM:619662
HP:0003124	Hypercholesterolemia	8694	DGAT1	OMIM:615863
HP:0003124	Hypercholesterolemia	344	APOC2	OMIM:207750
HP:0003124	Hypercholesterolemia	84984	CEP19	OMIM:615703
HP:0003124	Hypercholesterolemia	54840	APTX	OMIM:208920
HP:0003124	Hypercholesterolemia	4645	MYO5B	OMIM:619868
HP:0003124	Hypercholesterolemia	55186	SLC25A36	OMIM:620211
HP:0003124	Hypercholesterolemia	2690	GHR	ORPHA:633
HP:0003124	Hypercholesterolemia	2584	GALK1	ORPHA:79237
HP:0008153	Periodic hypokalemic paresis	64072	CDH23	ORPHA:91347
HP:0008153	Periodic hypokalemic paresis	6329	SCN4A	ORPHA:684
HP:0008153	Periodic hypokalemic paresis	6329	SCN4A	ORPHA:681
HP:0008153	Periodic hypokalemic paresis	779	CACNA1S	ORPHA:681
HP:0008153	Periodic hypokalemic paresis	779	CACNA1S	ORPHA:79102
HP:0008153	Periodic hypokalemic paresis	10008	KCNE3	ORPHA:681
HP:0008153	Periodic hypokalemic paresis	3759	KCNJ2	OMIM:170390
HP:0008153	Periodic hypokalemic paresis	3759	KCNJ2	ORPHA:37553
HP:0008153	Periodic hypokalemic paresis	100134444	KCNJ18	ORPHA:79102
HP:0008153	Periodic hypokalemic paresis	2556	GABRA3	ORPHA:79102
HP:0008153	Periodic hypokalemic paresis	760	CA2	OMIM:259730
HP:0008153	Periodic hypokalemic paresis	3762	KCNJ5	ORPHA:37553
HP:0008158	Hyperapobetalipoproteinemia	64241	ABCG8	OMIM:210250
HP:0000548	Cone/cone-rod dystrophy	778	CACNA1F	OMIM:300476
HP:0000548	Cone/cone-rod dystrophy	7840	ALMS1	ORPHA:64
HP:0000548	Cone/cone-rod dystrophy	7840	ALMS1	OMIM:203800
HP:0000548	Cone/cone-rod dystrophy	24	ABCA4	OMIM:604116
HP:0000548	Cone/cone-rod dystrophy	5146	PDE6C	OMIM:613093
HP:0000548	Cone/cone-rod dystrophy	83394	PITPNM3	OMIM:600977
HP:0000548	Cone/cone-rod dystrophy	22999	RIMS1	OMIM:603649
HP:0000548	Cone/cone-rod dystrophy	84839	RAX2	OMIM:610381
HP:0000548	Cone/cone-rod dystrophy	9364	RAB28	OMIM:615374
HP:0000548	Cone/cone-rod dystrophy	282809	POC1B	OMIM:615973
HP:0000548	Cone/cone-rod dystrophy	10560	SLC19A2	OMIM:249270
HP:0000548	Cone/cone-rod dystrophy	157657	CFAP418	OMIM:614500
HP:0000548	Cone/cone-rod dystrophy	157657	CFAP418	OMIM:617406
HP:0000548	Cone/cone-rod dystrophy	54585	LZTFL1	OMIM:615994
HP:0000548	Cone/cone-rod dystrophy	57096	RPGRIP1	OMIM:608194
HP:0000548	Cone/cone-rod dystrophy	26504	CNNM4	OMIM:217080
HP:0000548	Cone/cone-rod dystrophy	755	CFAP410	OMIM:602271
HP:0000548	Cone/cone-rod dystrophy	2978	GUCA1A	OMIM:602093
HP:0000548	Cone/cone-rod dystrophy	3166	HMX1	OMIM:612109
HP:0000548	Cone/cone-rod dystrophy	1406	CRX	OMIM:120970
HP:0000548	Cone/cone-rod dystrophy	23746	AIPL1	OMIM:604393
HP:0000548	Cone/cone-rod dystrophy	6314	ATXN7	ORPHA:94147
HP:0000548	Cone/cone-rod dystrophy	3000	GUCY2D	OMIM:601777
HP:0000548	Cone/cone-rod dystrophy	5130	PCYT1A	ORPHA:85167
HP:0000548	Cone/cone-rod dystrophy	5130	PCYT1A	OMIM:608940
HP:0000548	Cone/cone-rod dystrophy	23093	TTLL5	OMIM:615860
HP:0000548	Cone/cone-rod dystrophy	10464	PIBF1	OMIM:617767
HP:0000548	Cone/cone-rod dystrophy	8754	ADAM9	OMIM:612775
HP:0000548	Cone/cone-rod dystrophy	169522	KCNV2	OMIM:610356
HP:0000548	Cone/cone-rod dystrophy	93589	CACNA2D4	OMIM:610478
HP:0000548	Cone/cone-rod dystrophy	8842	PROM1	OMIM:612657
HP:0000548	Cone/cone-rod dystrophy	55768	NGLY1	ORPHA:404454
HP:0000548	Cone/cone-rod dystrophy	80216	ALPK1	OMIM:614979
HP:0000548	Cone/cone-rod dystrophy	5149	PDE6H	OMIM:610024
HP:0003077	Hyperlipidemia	83483	PLVAP	OMIM:618183
HP:0003077	Hyperlipidemia	2235	FECH	OMIM:177000
HP:0003077	Hyperlipidemia	201294	UNC13D	OMIM:608898
HP:0003077	Hyperlipidemia	201294	UNC13D	ORPHA:540
HP:0003077	Hyperlipidemia	286053	NSMCE2	OMIM:617253
HP:0003077	Hyperlipidemia	286053	NSMCE2	ORPHA:436182
HP:0003077	Hyperlipidemia	55388	MCM10	OMIM:619313
HP:0003077	Hyperlipidemia	63036	CELA2A	OMIM:618620
HP:0003077	Hyperlipidemia	331	XIAP	OMIM:300635
HP:0003077	Hyperlipidemia	4160	MC4R	ORPHA:71529
HP:0003077	Hyperlipidemia	3990	LIPC	OMIM:614025
HP:0003077	Hyperlipidemia	3990	LIPC	ORPHA:140905
HP:0003077	Hyperlipidemia	19	ABCA1	OMIM:205400
HP:0003077	Hyperlipidemia	19	ABCA1	OMIM:604091
HP:0003077	Hyperlipidemia	19	ABCA1	ORPHA:31150
HP:0003077	Hyperlipidemia	63924	CIDEC	OMIM:615238
HP:0003077	Hyperlipidemia	63924	CIDEC	ORPHA:435651
HP:0003077	Hyperlipidemia	857	CAV1	OMIM:612526
HP:0003077	Hyperlipidemia	857	CAV1	OMIM:606721
HP:0003077	Hyperlipidemia	857	CAV1	ORPHA:528
HP:0003077	Hyperlipidemia	5551	PRF1	ORPHA:540
HP:0003077	Hyperlipidemia	5551	PRF1	OMIM:603553
HP:0003077	Hyperlipidemia	8676	STX11	ORPHA:540
HP:0003077	Hyperlipidemia	8676	STX11	OMIM:603552
HP:0003077	Hyperlipidemia	6813	STXBP2	ORPHA:540
HP:0003077	Hyperlipidemia	6813	STXBP2	OMIM:613101
HP:0003077	Hyperlipidemia	10165	SLC25A13	OMIM:605814
HP:0003077	Hyperlipidemia	10165	SLC25A13	OMIM:603471
HP:0003077	Hyperlipidemia	10165	SLC25A13	ORPHA:247598
HP:0003077	Hyperlipidemia	10165	SLC25A13	ORPHA:247585
HP:0003077	Hyperlipidemia	26580	BSCL2	ORPHA:363400
HP:0003077	Hyperlipidemia	26580	BSCL2	OMIM:615924
HP:0003077	Hyperlipidemia	26580	BSCL2	OMIM:269700
HP:0003077	Hyperlipidemia	26580	BSCL2	ORPHA:528
HP:0003077	Hyperlipidemia	84699	CREB3L3	OMIM:619324
HP:0003077	Hyperlipidemia	2314	FLII	ORPHA:819
HP:0003077	Hyperlipidemia	23096	IQSEC2	ORPHA:819
HP:0003077	Hyperlipidemia	10743	RAI1	ORPHA:819
HP:0003077	Hyperlipidemia	10743	RAI1	OMIM:182290
HP:0003077	Hyperlipidemia	10522	DEAF1	ORPHA:819
HP:0003077	Hyperlipidemia	3952	LEP	ORPHA:66628
HP:0003077	Hyperlipidemia	7486	WRN	OMIM:277700
HP:0003077	Hyperlipidemia	348	APOE	ORPHA:412
HP:0003077	Hyperlipidemia	2710	GK	OMIM:307030
HP:0003077	Hyperlipidemia	2542	SLC37A4	ORPHA:79259
HP:0003077	Hyperlipidemia	6609	SMPD1	ORPHA:77293
HP:0003077	Hyperlipidemia	6609	SMPD1	OMIM:607616
HP:0003077	Hyperlipidemia	5699	PSMB10	OMIM:619175
HP:0003077	Hyperlipidemia	50619	DEF6	OMIM:619573
HP:0003077	Hyperlipidemia	3988	LIPA	OMIM:278000
HP:0003077	Hyperlipidemia	3988	LIPA	ORPHA:75234
HP:0003077	Hyperlipidemia	5468	PPARG	ORPHA:79083
HP:0003077	Hyperlipidemia	5468	PPARG	OMIM:604367
HP:0003077	Hyperlipidemia	5468	PPARG	ORPHA:528
HP:0003077	Hyperlipidemia	9149	DYRK1B	OMIM:615812
HP:0003077	Hyperlipidemia	208	AKT2	ORPHA:79085
HP:0003077	Hyperlipidemia	5346	PLIN1	OMIM:613877
HP:0003077	Hyperlipidemia	5346	PLIN1	ORPHA:280356
HP:0003077	Hyperlipidemia	5257	PHKB	ORPHA:79240
HP:0003077	Hyperlipidemia	284654	RSPO1	OMIM:610644
HP:0003077	Hyperlipidemia	7840	ALMS1	OMIM:203800
HP:0003077	Hyperlipidemia	7840	ALMS1	ORPHA:64
HP:0003077	Hyperlipidemia	1581	CYP7A1	ORPHA:209902
HP:0003077	Hyperlipidemia	10555	AGPAT2	OMIM:608594
HP:0003077	Hyperlipidemia	10555	AGPAT2	ORPHA:528
HP:0003077	Hyperlipidemia	1130	LYST	ORPHA:167
HP:0003077	Hyperlipidemia	5424	POLD1	OMIM:615381
HP:0003077	Hyperlipidemia	4000	LMNA	OMIM:151660
HP:0003077	Hyperlipidemia	4000	LMNA	OMIM:616516
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:79474
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:280365
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:363618
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:98855
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:98853
HP:0003077	Hyperlipidemia	4000	LMNA	ORPHA:2348
HP:0003077	Hyperlipidemia	5283	PIGH	OMIM:618010
HP:0003077	Hyperlipidemia	3953	LEPR	ORPHA:179494
HP:0003077	Hyperlipidemia	84984	CEP19	OMIM:615703
HP:0003077	Hyperlipidemia	338328	GPIHBP1	OMIM:615947
HP:0003077	Hyperlipidemia	165	AEBP1	ORPHA:536532
HP:0003077	Hyperlipidemia	9056	SLC7A7	ORPHA:470
HP:0003077	Hyperlipidemia	8879	SGPL1	OMIM:617575
HP:0003077	Hyperlipidemia	51604	PIGT	ORPHA:369837
HP:0003077	Hyperlipidemia	3991	LIPE	ORPHA:435660
HP:0003077	Hyperlipidemia	5836	PYGL	OMIM:232700
HP:0003077	Hyperlipidemia	338	APOB	OMIM:615558
HP:0003077	Hyperlipidemia	11128	POLR3A	OMIM:264090
HP:0003077	Hyperlipidemia	11128	POLR3A	ORPHA:3455
HP:0003077	Hyperlipidemia	4040	LRP6	OMIM:610947
HP:0003077	Hyperlipidemia	3931	LCAT	OMIM:245900
HP:0003077	Hyperlipidemia	3931	LCAT	OMIM:136120
HP:0003077	Hyperlipidemia	84868	HAVCR2	OMIM:618398
HP:0003077	Hyperlipidemia	10651	MTX2	OMIM:619127
HP:0003077	Hyperlipidemia	5261	PHKG2	OMIM:613027
HP:0003077	Hyperlipidemia	5261	PHKG2	ORPHA:264580
HP:0003077	Hyperlipidemia	182	JAG1	OMIM:118450
HP:0003077	Hyperlipidemia	6514	SLC2A2	ORPHA:2088
HP:0003077	Hyperlipidemia	7274	TTPA	OMIM:277460
HP:0003077	Hyperlipidemia	5294	PIK3CG	OMIM:619802
HP:0003077	Hyperlipidemia	7518	XRCC4	ORPHA:436182
HP:0003077	Hyperlipidemia	51128	SAR1B	ORPHA:71
HP:0003077	Hyperlipidemia	57104	PNPLA2	OMIM:610717
HP:0003077	Hyperlipidemia	57104	PNPLA2	ORPHA:98908
HP:0003077	Hyperlipidemia	2819	GPD1	OMIM:614480
HP:0003077	Hyperlipidemia	5692	PSMB4	OMIM:617591
HP:0003077	Hyperlipidemia	5698	PSMB9	OMIM:617591
HP:0003077	Hyperlipidemia	2193	FARSA	OMIM:619013
HP:0003077	Hyperlipidemia	8565	YARS1	OMIM:619418
HP:0003077	Hyperlipidemia	51099	ABHD5	ORPHA:98907
HP:0003077	Hyperlipidemia	116519	APOA5	OMIM:145750
HP:0003077	Hyperlipidemia	284119	CAVIN1	ORPHA:528
HP:0003077	Hyperlipidemia	284119	CAVIN1	OMIM:613327
HP:0003077	Hyperlipidemia	2353	FOS	ORPHA:528
HP:0003077	Hyperlipidemia	2273	FHL1	ORPHA:98863
HP:0003077	Hyperlipidemia	2010	EMD	ORPHA:98863
HP:0003077	Hyperlipidemia	178	AGL	ORPHA:366
HP:0003077	Hyperlipidemia	26119	LDLRAP1	OMIM:603813
HP:0003077	Hyperlipidemia	64788	LMF1	OMIM:246650
HP:0003077	Hyperlipidemia	5256	PHKA2	ORPHA:264580
HP:0003077	Hyperlipidemia	5256	PHKA2	OMIM:306000
HP:0003077	Hyperlipidemia	344	APOC2	OMIM:207750
HP:0003077	Hyperlipidemia	109	ADCY3	OMIM:617885
HP:0003077	Hyperlipidemia	55315	SLC29A3	ORPHA:168569
HP:0003077	Hyperlipidemia	5696	PSMB8	OMIM:256040
HP:0003077	Hyperlipidemia	79188	TMEM43	ORPHA:98853
HP:0003077	Hyperlipidemia	23345	SYNE1	ORPHA:98853
HP:0003077	Hyperlipidemia	23224	SYNE2	ORPHA:98853
HP:0003077	Hyperlipidemia	10269	ZMPSTE24	OMIM:608612
HP:0003077	Hyperlipidemia	10269	ZMPSTE24	ORPHA:90154
HP:0003077	Hyperlipidemia	5566	PRKACA	ORPHA:189439
HP:0003077	Hyperlipidemia	8622	PDE8B	ORPHA:189439
HP:0003077	Hyperlipidemia	5573	PRKAR1A	ORPHA:189439
HP:0003077	Hyperlipidemia	50940	PDE11A	ORPHA:189439
HP:0003077	Hyperlipidemia	80067	DCAF17	ORPHA:3464
HP:0003077	Hyperlipidemia	80067	DCAF17	OMIM:241080
HP:0003077	Hyperlipidemia	4023	LPL	OMIM:238600
HP:0003077	Hyperlipidemia	4023	LPL	OMIM:144250
HP:0003077	Hyperlipidemia	81	ACTN4	OMIM:603278
HP:0003077	Hyperlipidemia	213	ALB	ORPHA:86816
HP:0003077	Hyperlipidemia	3998	LMAN1	ORPHA:35909
HP:0003077	Hyperlipidemia	90411	MCFD2	ORPHA:35909
HP:0003077	Hyperlipidemia	25970	SH2B1	ORPHA:329249
HP:0003077	Hyperlipidemia	50485	SMARCAL1	ORPHA:1830
HP:0003077	Hyperlipidemia	79798	ARMC5	ORPHA:189427
HP:0003077	Hyperlipidemia	2778	GNAS	ORPHA:189427
HP:0003077	Hyperlipidemia	2998	GYS2	ORPHA:2089
HP:0003077	Hyperlipidemia	10342	TFG	OMIM:604484
HP:0003077	Hyperlipidemia	4868	NPHS1	OMIM:256300
HP:0003077	Hyperlipidemia	3949	LDLR	ORPHA:391665
HP:0003077	Hyperlipidemia	255738	PCSK9	ORPHA:391665
HP:0003077	Hyperlipidemia	64240	ABCG5	ORPHA:391665
HP:0003077	Hyperlipidemia	64241	ABCG8	ORPHA:391665
HP:0003077	Hyperlipidemia	7827	NPHS2	OMIM:600995
HP:0003077	Hyperlipidemia	2538	G6PC1	OMIM:232200
HP:0003077	Hyperlipidemia	2717	GLA	ORPHA:324
HP:0003077	Hyperlipidemia	1376	CPT2	ORPHA:228308
HP:0003077	Hyperlipidemia	1071	CETP	ORPHA:79506
HP:0003077	Hyperlipidemia	345	APOC3	ORPHA:79506
HP:0003077	Hyperlipidemia	8694	DGAT1	OMIM:615863
HP:0003077	Hyperlipidemia	4644	MYO5A	ORPHA:79476
HP:0003077	Hyperlipidemia	3075	CFH	OMIM:235400
HP:0003077	Hyperlipidemia	3078	CFHR1	OMIM:235400
HP:0003077	Hyperlipidemia	10878	CFHR3	OMIM:235400
HP:0003077	Hyperlipidemia	5873	RAB27A	ORPHA:79477
HP:0003077	Hyperlipidemia	1588	CYP19A1	ORPHA:91
HP:0003077	Hyperlipidemia	1374	CPT1A	ORPHA:156
HP:0003077	Hyperlipidemia	1374	CPT1A	OMIM:255120
HP:0034010	Increased megakaryocyte colony forming unit count	22852	ANKRD26	OMIM:188000
HP:0034011	Reduced progressive sperm motility	25790	CFAP45	OMIM:619608
HP:0034011	Reduced progressive sperm motility	140801	RPL10L	OMIM:619689
HP:0034011	Reduced progressive sperm motility	144132	DNHD1	OMIM:619712
HP:0034011	Reduced progressive sperm motility	196385	DNAH10	OMIM:619515
HP:0034011	Reduced progressive sperm motility	57728	WDR19	OMIM:619867
HP:0034011	Reduced progressive sperm motility	286151	FBXO43	OMIM:619696
HP:0034011	Reduced progressive sperm motility	92749	DRC1	OMIM:620222
HP:0034011	Reduced progressive sperm motility	80173	IFT74	OMIM:619585
HP:0034012	Palmoplantar hypohidrosis	56916	SMARCAD1	OMIM:129200
HP:0034014	Tubulonodular pericallosal lipoma	57688	ZSWIM6	OMIM:603671
HP:0008160	3-hydroxydicarboxylic aciduria	4724	NDUFS4	OMIM:252010
HP:0008160	3-hydroxydicarboxylic aciduria	51241	COX16	OMIM:619355
HP:0008160	3-hydroxydicarboxylic aciduria	55687	TRMU	OMIM:613070
HP:0008163	Decreased circulating cortisol level	9095	TBX19	ORPHA:199296
HP:0008163	Decreased circulating cortisol level	9095	TBX19	OMIM:201400
HP:0008163	Decreased circulating cortisol level	4791	NFKB2	ORPHA:293978
HP:0008163	Decreased circulating cortisol level	5122	PCSK1	OMIM:600955
HP:0008163	Decreased circulating cortisol level	5447	POR	OMIM:201750
HP:0008163	Decreased circulating cortisol level	5447	POR	ORPHA:95699
HP:0008163	Decreased circulating cortisol level	4158	MC2R	OMIM:202200
HP:0008163	Decreased circulating cortisol level	4158	MC2R	ORPHA:361
HP:0008163	Decreased circulating cortisol level	215	ABCD1	ORPHA:139396
HP:0008163	Decreased circulating cortisol level	1583	CYP11A1	ORPHA:168558
HP:0008163	Decreased circulating cortisol level	1583	CYP11A1	ORPHA:289548
HP:0008163	Decreased circulating cortisol level	8314	BAP1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	4771	NF2	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6598	SMARCB1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	5155	PDGFB	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	84231	TRAF7	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6608	SMO	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	207	AKT1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	5290	PIK3CA	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	7015	TERT	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	51684	SUFU	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6605	SMARCE1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	8086	AAAS	OMIM:231550
HP:0008163	Decreased circulating cortisol level	56246	MRAP	ORPHA:361
HP:0008163	Decreased circulating cortisol level	56246	MRAP	OMIM:607398
HP:0008163	Decreased circulating cortisol level	6770	STAR	ORPHA:361
HP:0008163	Decreased circulating cortisol level	23530	NNT	ORPHA:361
HP:0008163	Decreased circulating cortisol level	23530	NNT	OMIM:614736
HP:0008163	Decreased circulating cortisol level	10587	TXNRD2	ORPHA:361
HP:0008163	Decreased circulating cortisol level	10587	TXNRD2	OMIM:617825
HP:0008163	Decreased circulating cortisol level	190	NR0B1	OMIM:300200
HP:0008163	Decreased circulating cortisol level	5443	POMC	OMIM:609734
HP:0008163	Decreased circulating cortisol level	55278	QRSL1	OMIM:618835
HP:0008163	Decreased circulating cortisol level	5188	GATB	OMIM:618838
HP:0008163	Decreased circulating cortisol level	866	SERPINA6	OMIM:611489
HP:0008163	Decreased circulating cortisol level	3284	HSD3B2	ORPHA:90791
HP:0008163	Decreased circulating cortisol level	283459	GATC	OMIM:618839
HP:0008163	Decreased circulating cortisol level	2737	GLI3	OMIM:146510
HP:0008163	Decreased circulating cortisol level	1586	CYP17A1	ORPHA:90793
HP:0008163	Decreased circulating cortisol level	1584	CYP11B1	ORPHA:90795
HP:0008162	Asymptomatic hyperammonemia	2746	GLUD1	ORPHA:35878
HP:0008162	Asymptomatic hyperammonemia	2746	GLUD1	OMIM:606762
HP:0008165	Decreased helper T cell proportion	8456	FOXN1	OMIM:601705
HP:0008167	Very long chain fatty acid accumulation	55670	PEX26	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	55670	PEX26	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5824	PEX19	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5824	PEX19	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5828	PEX2	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5828	PEX2	OMIM:614867
HP:0008167	Very long chain fatty acid accumulation	5828	PEX2	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	8504	PEX3	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	8504	PEX3	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	9409	PEX16	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	9409	PEX16	OMIM:614877
HP:0008167	Very long chain fatty acid accumulation	9409	PEX16	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5190	PEX6	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5190	PEX6	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	8799	PEX11B	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	8799	PEX11B	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5830	PEX5	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5830	PEX5	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5189	PEX1	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5189	PEX1	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5193	PEX12	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5193	PEX12	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5193	PEX12	OMIM:266510
HP:0008167	Very long chain fatty acid accumulation	5194	PEX13	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5194	PEX13	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5195	PEX14	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5195	PEX14	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5192	PEX10	ORPHA:772
HP:0008167	Very long chain fatty acid accumulation	5192	PEX10	ORPHA:912
HP:0008167	Very long chain fatty acid accumulation	5192	PEX10	ORPHA:247815
HP:0008167	Very long chain fatty acid accumulation	51	ACOX1	OMIM:264470
HP:0008167	Very long chain fatty acid accumulation	57104	PNPLA2	ORPHA:98908
HP:0008167	Very long chain fatty acid accumulation	3295	HSD17B4	OMIM:261515
HP:0008167	Very long chain fatty acid accumulation	91452	ACBD5	OMIM:618863
HP:0008167	Very long chain fatty acid accumulation	215	ABCD1	ORPHA:139399
HP:0008167	Very long chain fatty acid accumulation	215	ABCD1	ORPHA:139396
HP:0008169	Reduced factor VII activity	2677	GGCX	OMIM:277450
HP:0008169	Reduced factor VII activity	2677	GGCX	OMIM:610842
HP:0008169	Reduced factor VII activity	2542	SLC37A4	OMIM:619525
HP:0008169	Reduced factor VII activity	191	AHCY	ORPHA:88618
HP:0008169	Reduced factor VII activity	2155	F7	OMIM:227500
HP:0008169	Reduced factor VII activity	79001	VKORC1	OMIM:607473
HP:0034025	Abnormal circulating GABA concentration	54532	USP53	OMIM:619658
HP:0034025	Abnormal circulating GABA concentration	7915	ALDH5A1	OMIM:271980
HP:0034025	Abnormal circulating GABA concentration	4353	MPO	OMIM:104300
HP:0034025	Abnormal circulating GABA concentration	4846	NOS3	OMIM:104300
HP:0034025	Abnormal circulating GABA concentration	3077	HFE	OMIM:104300
HP:0034025	Abnormal circulating GABA concentration	351	APP	OMIM:104300
HP:0034025	Abnormal circulating GABA concentration	5328	PLAU	OMIM:104300
HP:0034029	Hepatic foam cells	3988	LIPA	OMIM:278000
HP:0008176	Neonatal unconjugated hyperbilirubinemia	54658	UGT1A1	OMIM:237900
HP:0001873	Thrombocytopenia	201595	STT3B	OMIM:615597
HP:0001873	Thrombocytopenia	201595	STT3B	ORPHA:370924
HP:0001873	Thrombocytopenia	22800	RRAS2	OMIM:618624
HP:0001873	Thrombocytopenia	1736	DKC1	OMIM:305000
HP:0001873	Thrombocytopenia	1736	DKC1	ORPHA:3322
HP:0001873	Thrombocytopenia	1736	DKC1	ORPHA:1775
HP:0001873	Thrombocytopenia	114803	MYSM1	ORPHA:508542
HP:0001873	Thrombocytopenia	114803	MYSM1	OMIM:618116
HP:0001873	Thrombocytopenia	2175	FANCA	OMIM:227650
HP:0001873	Thrombocytopenia	2175	FANCA	ORPHA:84
HP:0001873	Thrombocytopenia	2120	ETV6	OMIM:616216
HP:0001873	Thrombocytopenia	166378	AFG2A	OMIM:616577
HP:0001873	Thrombocytopenia	5184	PEPD	OMIM:170100
HP:0001873	Thrombocytopenia	65082	VPS33A	OMIM:617303
HP:0001873	Thrombocytopenia	65082	VPS33A	ORPHA:505248
HP:0001873	Thrombocytopenia	8526	DGKE	OMIM:615008
HP:0001873	Thrombocytopenia	2188	FANCF	OMIM:603467
HP:0001873	Thrombocytopenia	2188	FANCF	ORPHA:84
HP:0001873	Thrombocytopenia	8029	CUBN	ORPHA:35858
HP:0001873	Thrombocytopenia	81693	AMN	ORPHA:35858
HP:0001873	Thrombocytopenia	219285	SAMD9L	OMIM:159550
HP:0001873	Thrombocytopenia	219285	SAMD9L	OMIM:252270
HP:0001873	Thrombocytopenia	5155	PDGFB	ORPHA:1980
HP:0001873	Thrombocytopenia	9213	XPR1	ORPHA:1980
HP:0001873	Thrombocytopenia	5159	PDGFRB	ORPHA:1980
HP:0001873	Thrombocytopenia	57462	MYORG	ORPHA:1980
HP:0001873	Thrombocytopenia	6575	SLC20A2	ORPHA:1980
HP:0001873	Thrombocytopenia	58494	JAM2	ORPHA:1980
HP:0001873	Thrombocytopenia	1716	DGUOK	OMIM:251880
HP:0001873	Thrombocytopenia	1130	LYST	ORPHA:167
HP:0001873	Thrombocytopenia	1130	LYST	OMIM:214500
HP:0001873	Thrombocytopenia	861	RUNX1	OMIM:601399
HP:0001873	Thrombocytopenia	861	RUNX1	ORPHA:521
HP:0001873	Thrombocytopenia	861	RUNX1	ORPHA:98850
HP:0001873	Thrombocytopenia	26258	BLOC1S6	OMIM:614171
HP:0001873	Thrombocytopenia	7386	UQCRFS1	OMIM:618775
HP:0001873	Thrombocytopenia	5442	POLRMT	OMIM:619743
HP:0001873	Thrombocytopenia	2313	FLI1	OMIM:617443
HP:0001873	Thrombocytopenia	2313	FLI1	ORPHA:2308
HP:0001873	Thrombocytopenia	80739	MPIG6B	OMIM:617441
HP:0001873	Thrombocytopenia	56992	KIF15	OMIM:619981
HP:0001873	Thrombocytopenia	56992	KIF15	ORPHA:261323
HP:0001873	Thrombocytopenia	950	SCARB2	OMIM:254900
HP:0001873	Thrombocytopenia	950	SCARB2	ORPHA:77259
HP:0001873	Thrombocytopenia	3981	LIG4	ORPHA:235
HP:0001873	Thrombocytopenia	3981	LIG4	OMIM:606593
HP:0001873	Thrombocytopenia	54888	NSUN2	ORPHA:235
HP:0001873	Thrombocytopenia	9056	SLC7A7	ORPHA:470
HP:0001873	Thrombocytopenia	9056	SLC7A7	OMIM:222700
HP:0001873	Thrombocytopenia	3572	IL6ST	OMIM:619751
HP:0001873	Thrombocytopenia	54914	FOCAD	OMIM:619991
HP:0001873	Thrombocytopenia	57167	SALL4	OMIM:147750
HP:0001873	Thrombocytopenia	57167	SALL4	ORPHA:2307
HP:0001873	Thrombocytopenia	166785	MMAA	OMIM:251100
HP:0001873	Thrombocytopenia	64421	DCLRE1C	OMIM:603554
HP:0001873	Thrombocytopenia	5896	RAG1	OMIM:603554
HP:0001873	Thrombocytopenia	5896	RAG1	ORPHA:331206
HP:0001873	Thrombocytopenia	5897	RAG2	OMIM:603554
HP:0001873	Thrombocytopenia	5897	RAG2	ORPHA:331206
HP:0001873	Thrombocytopenia	5551	PRF1	OMIM:603553
HP:0001873	Thrombocytopenia	5551	PRF1	ORPHA:540
HP:0001873	Thrombocytopenia	5551	PRF1	ORPHA:88
HP:0001873	Thrombocytopenia	8676	STX11	OMIM:603552
HP:0001873	Thrombocytopenia	8676	STX11	ORPHA:540
HP:0001873	Thrombocytopenia	11234	HPS5	OMIM:614074
HP:0001873	Thrombocytopenia	57169	ZNFX1	OMIM:619644
HP:0001873	Thrombocytopenia	150274	HSCB	OMIM:619523
HP:0001873	Thrombocytopenia	11311	VPS45	OMIM:615285
HP:0001873	Thrombocytopenia	50485	SMARCAL1	ORPHA:1830
HP:0001873	Thrombocytopenia	50485	SMARCAL1	OMIM:242900
HP:0001873	Thrombocytopenia	2542	SLC37A4	OMIM:619525
HP:0001873	Thrombocytopenia	7841	MOGS	ORPHA:79330
HP:0001873	Thrombocytopenia	540	ATP7B	OMIM:277900
HP:0001873	Thrombocytopenia	540	ATP7B	ORPHA:905
HP:0001873	Thrombocytopenia	19	ABCA1	ORPHA:31150
HP:0001873	Thrombocytopenia	9968	MED12	OMIM:301068
HP:0001873	Thrombocytopenia	2189	FANCG	OMIM:614082
HP:0001873	Thrombocytopenia	2189	FANCG	ORPHA:84
HP:0001873	Thrombocytopenia	5692	PSMB4	OMIM:617591
HP:0001873	Thrombocytopenia	5698	PSMB9	OMIM:617591
HP:0001873	Thrombocytopenia	6603	SMARCD2	OMIM:617475
HP:0001873	Thrombocytopenia	3717	JAK2	OMIM:263300
HP:0001873	Thrombocytopenia	3717	JAK2	ORPHA:824
HP:0001873	Thrombocytopenia	25836	NIPBL	OMIM:122470
HP:0001873	Thrombocytopenia	3930	LBR	OMIM:169400
HP:0001873	Thrombocytopenia	79087	ALG12	ORPHA:79324
HP:0001873	Thrombocytopenia	79053	ALG8	ORPHA:79325
HP:0001873	Thrombocytopenia	79053	ALG8	OMIM:608104
HP:0001873	Thrombocytopenia	51311	TLR8	OMIM:301078
HP:0001873	Thrombocytopenia	6135	RPL11	ORPHA:124
HP:0001873	Thrombocytopenia	6138	RPL15	ORPHA:124
HP:0001873	Thrombocytopenia	6229	RPS24	ORPHA:124
HP:0001873	Thrombocytopenia	6125	RPL5	ORPHA:124
HP:0001873	Thrombocytopenia	6204	RPS10	ORPHA:124
HP:0001873	Thrombocytopenia	6224	RPS20	ORPHA:124
HP:0001873	Thrombocytopenia	6165	RPL35A	ORPHA:124
HP:0001873	Thrombocytopenia	6223	RPS19	ORPHA:124
HP:0001873	Thrombocytopenia	6223	RPS19	OMIM:105650
HP:0001873	Thrombocytopenia	6232	RPS27	ORPHA:124
HP:0001873	Thrombocytopenia	6231	RPS26	ORPHA:124
HP:0001873	Thrombocytopenia	11224	RPL35	ORPHA:124
HP:0001873	Thrombocytopenia	6160	RPL31	ORPHA:124
HP:0001873	Thrombocytopenia	6218	RPS17	ORPHA:124
HP:0001873	Thrombocytopenia	6201	RPS7	ORPHA:124
HP:0001873	Thrombocytopenia	6155	RPL27	ORPHA:124
HP:0001873	Thrombocytopenia	6154	RPL26	ORPHA:124
HP:0001873	Thrombocytopenia	6210	RPS15A	ORPHA:124
HP:0001873	Thrombocytopenia	90121	TSR2	ORPHA:124
HP:0001873	Thrombocytopenia	6141	RPL18	ORPHA:124
HP:0001873	Thrombocytopenia	6235	RPS29	ORPHA:124
HP:0001873	Thrombocytopenia	6234	RPS28	ORPHA:124
HP:0001873	Thrombocytopenia	51816	ADA2	ORPHA:124
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:77261
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:77259
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:230800
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:2072
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:230900
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:608013
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:231000
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:85212
HP:0001873	Thrombocytopenia	51645	PPIL1	OMIM:619301
HP:0001873	Thrombocytopenia	51362	CDC40	OMIM:619302
HP:0001873	Thrombocytopenia	81570	CLPB	OMIM:616271
HP:0001873	Thrombocytopenia	10459	MAD2L2	OMIM:617243
HP:0001873	Thrombocytopenia	10459	MAD2L2	ORPHA:84
HP:0001873	Thrombocytopenia	6654	SOS1	OMIM:610733
HP:0001873	Thrombocytopenia	5277	PIGA	OMIM:301072
HP:0001873	Thrombocytopenia	5277	PIGA	ORPHA:447
HP:0001873	Thrombocytopenia	4594	MMUT	ORPHA:79312
HP:0001873	Thrombocytopenia	4594	MMUT	ORPHA:289916
HP:0001873	Thrombocytopenia	4594	MMUT	OMIM:251000
HP:0001873	Thrombocytopenia	87	ACTN1	OMIM:615193
HP:0001873	Thrombocytopenia	2187	FANCB	OMIM:300514
HP:0001873	Thrombocytopenia	2187	FANCB	ORPHA:84
HP:0001873	Thrombocytopenia	4179	CD46	OMIM:612922
HP:0001873	Thrombocytopenia	4179	CD46	ORPHA:244242
HP:0001873	Thrombocytopenia	6916	TBXAS1	OMIM:231095
HP:0001873	Thrombocytopenia	629	CFB	OMIM:612924
HP:0001873	Thrombocytopenia	3426	CFI	OMIM:612923
HP:0001873	Thrombocytopenia	3426	CFI	ORPHA:244242
HP:0001873	Thrombocytopenia	959	CD40LG	OMIM:308230
HP:0001873	Thrombocytopenia	7056	THBD	OMIM:612926
HP:0001873	Thrombocytopenia	718	C3	OMIM:612925
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:75564
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98850
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98849
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:824
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98826
HP:0001873	Thrombocytopenia	23451	SF3B1	ORPHA:75564
HP:0001873	Thrombocytopenia	201294	UNC13D	ORPHA:540
HP:0001873	Thrombocytopenia	6813	STXBP2	ORPHA:540
HP:0001873	Thrombocytopenia	6813	STXBP2	OMIM:613101
HP:0001873	Thrombocytopenia	6888	TALDO1	ORPHA:101028
HP:0001873	Thrombocytopenia	6888	TALDO1	OMIM:606003
HP:0001873	Thrombocytopenia	58484	NLRC4	OMIM:616050
HP:0001873	Thrombocytopenia	29887	SNX10	OMIM:615085
HP:0001873	Thrombocytopenia	23395	LARS2	OMIM:617021
HP:0001873	Thrombocytopenia	51119	SBDS	OMIM:260400
HP:0001873	Thrombocytopenia	51119	SBDS	ORPHA:811
HP:0001873	Thrombocytopenia	51119	SBDS	ORPHA:88
HP:0001873	Thrombocytopenia	134218	DNAJC21	OMIM:260400
HP:0001873	Thrombocytopenia	134218	DNAJC21	OMIM:617052
HP:0001873	Thrombocytopenia	134218	DNAJC21	ORPHA:811
HP:0001873	Thrombocytopenia	6729	SRP54	OMIM:260400
HP:0001873	Thrombocytopenia	6729	SRP54	ORPHA:811
HP:0001873	Thrombocytopenia	4952	OCRL	ORPHA:534
HP:0001873	Thrombocytopenia	331	XIAP	OMIM:308240
HP:0001873	Thrombocytopenia	4068	SH2D1A	OMIM:308240
HP:0001873	Thrombocytopenia	23218	NBEAL2	OMIM:139090
HP:0001873	Thrombocytopenia	23218	NBEAL2	ORPHA:721
HP:0001873	Thrombocytopenia	427	ASAH1	ORPHA:333
HP:0001873	Thrombocytopenia	537	ATP6AP1	OMIM:300972
HP:0001873	Thrombocytopenia	7922	SLC39A7	OMIM:619693
HP:0001873	Thrombocytopenia	50619	DEF6	OMIM:619573
HP:0001873	Thrombocytopenia	8260	NAA10	OMIM:300855
HP:0001873	Thrombocytopenia	3394	IRF8	OMIM:226990
HP:0001873	Thrombocytopenia	11274	USP18	OMIM:617397
HP:0001873	Thrombocytopenia	1312	COMT	ORPHA:567
HP:0001873	Thrombocytopenia	221037	JMJD1C	ORPHA:567
HP:0001873	Thrombocytopenia	6239	RREB1	ORPHA:567
HP:0001873	Thrombocytopenia	6899	TBX1	ORPHA:567
HP:0001873	Thrombocytopenia	6899	TBX1	OMIM:188400
HP:0001873	Thrombocytopenia	7290	HIRA	ORPHA:567
HP:0001873	Thrombocytopenia	9632	SEC24C	ORPHA:567
HP:0001873	Thrombocytopenia	7353	UFD1	ORPHA:567
HP:0001873	Thrombocytopenia	421	ARVCF	ORPHA:567
HP:0001873	Thrombocytopenia	55750	AGK	OMIM:212350
HP:0001873	Thrombocytopenia	22852	ANKRD26	OMIM:188000
HP:0001873	Thrombocytopenia	26276	VPS33B	OMIM:208085
HP:0001873	Thrombocytopenia	546	ATRX	ORPHA:231401
HP:0001873	Thrombocytopenia	55340	GIMAP5	OMIM:619463
HP:0001873	Thrombocytopenia	56244	BTNL2	ORPHA:797
HP:0001873	Thrombocytopenia	3123	HLA-DRB1	ORPHA:797
HP:0001873	Thrombocytopenia	5660	PSAP	OMIM:610539
HP:0001873	Thrombocytopenia	54809	SAMD9	OMIM:617053
HP:0001873	Thrombocytopenia	54809	SAMD9	OMIM:619041
HP:0001873	Thrombocytopenia	55651	NHP2	OMIM:224230
HP:0001873	Thrombocytopenia	55651	NHP2	OMIM:613987
HP:0001873	Thrombocytopenia	55651	NHP2	ORPHA:1775
HP:0001873	Thrombocytopenia	55505	NOP10	OMIM:224230
HP:0001873	Thrombocytopenia	55505	NOP10	ORPHA:1775
HP:0001873	Thrombocytopenia	8567	MADD	OMIM:619004
HP:0001873	Thrombocytopenia	8567	MADD	OMIM:619005
HP:0001873	Thrombocytopenia	29123	ANKRD11	ORPHA:261250
HP:0001873	Thrombocytopenia	6786	STIM1	OMIM:185070
HP:0001873	Thrombocytopenia	6786	STIM1	OMIM:612783
HP:0001873	Thrombocytopenia	6948	TCN2	ORPHA:859
HP:0001873	Thrombocytopenia	3516	RBPJ	ORPHA:974
HP:0001873	Thrombocytopenia	4851	NOTCH1	ORPHA:974
HP:0001873	Thrombocytopenia	57514	ARHGAP31	ORPHA:974
HP:0001873	Thrombocytopenia	57572	DOCK6	ORPHA:974
HP:0001873	Thrombocytopenia	285203	EOGT	ORPHA:974
HP:0001873	Thrombocytopenia	54567	DLL4	ORPHA:974
HP:0001873	Thrombocytopenia	199221	DZIP1L	ORPHA:731
HP:0001873	Thrombocytopenia	5314	PKHD1	ORPHA:731
HP:0001873	Thrombocytopenia	64376	IKZF5	OMIM:619130
HP:0001873	Thrombocytopenia	2177	FANCD2	OMIM:227646
HP:0001873	Thrombocytopenia	2177	FANCD2	ORPHA:84
HP:0001873	Thrombocytopenia	2176	FANCC	OMIM:227645
HP:0001873	Thrombocytopenia	2176	FANCC	ORPHA:84
HP:0001873	Thrombocytopenia	7390	UROS	OMIM:263700
HP:0001873	Thrombocytopenia	7390	UROS	ORPHA:79277
HP:0001873	Thrombocytopenia	51371	POMP	OMIM:618048
HP:0001873	Thrombocytopenia	5557	PRIM1	OMIM:620005
HP:0001873	Thrombocytopenia	4683	NBN	ORPHA:647
HP:0001873	Thrombocytopenia	4683	NBN	OMIM:251260
HP:0001873	Thrombocytopenia	1719	DHFR	OMIM:613839
HP:0001873	Thrombocytopenia	613	BCR	ORPHA:521
HP:0001873	Thrombocytopenia	25	ABL1	ORPHA:521
HP:0001873	Thrombocytopenia	5371	PML	ORPHA:520
HP:0001873	Thrombocytopenia	5914	RARA	ORPHA:520
HP:0001873	Thrombocytopenia	81608	FIP1L1	ORPHA:520
HP:0001873	Thrombocytopenia	4869	NPM1	ORPHA:520
HP:0001873	Thrombocytopenia	4869	NPM1	ORPHA:1775
HP:0001873	Thrombocytopenia	5573	PRKAR1A	ORPHA:520
HP:0001873	Thrombocytopenia	54880	BCOR	ORPHA:520
HP:0001873	Thrombocytopenia	64859	NABP1	ORPHA:520
HP:0001873	Thrombocytopenia	6777	STAT5B	ORPHA:520
HP:0001873	Thrombocytopenia	4926	NUMA1	ORPHA:520
HP:0001873	Thrombocytopenia	7704	ZBTB16	ORPHA:520
HP:0001873	Thrombocytopenia	79718	TBL1XR1	ORPHA:520
HP:0001873	Thrombocytopenia	5696	PSMB8	OMIM:256040
HP:0001873	Thrombocytopenia	54938	SARS2	OMIM:613845
HP:0001873	Thrombocytopenia	128	ADH5	OMIM:619151
HP:0001873	Thrombocytopenia	171023	ASXL1	ORPHA:98850
HP:0001873	Thrombocytopenia	171023	ASXL1	ORPHA:98849
HP:0001873	Thrombocytopenia	867	CBL	ORPHA:98850
HP:0001873	Thrombocytopenia	6427	SRSF2	ORPHA:98850
HP:0001873	Thrombocytopenia	6427	SRSF2	ORPHA:98849
HP:0001873	Thrombocytopenia	6309	SC5D	ORPHA:46059
HP:0001873	Thrombocytopenia	10312	TCIRG1	OMIM:259700
HP:0001873	Thrombocytopenia	10312	TCIRG1	ORPHA:210110
HP:0001873	Thrombocytopenia	3815	KIT	ORPHA:98849
HP:0001873	Thrombocytopenia	811	CALR	ORPHA:824
HP:0001873	Thrombocytopenia	10667	FARS2	OMIM:614946
HP:0001873	Thrombocytopenia	55788	LMBRD1	OMIM:277380
HP:0001873	Thrombocytopenia	3141	HLCS	OMIM:253270
HP:0001873	Thrombocytopenia	3141	HLCS	ORPHA:79242
HP:0001873	Thrombocytopenia	7015	TERT	OMIM:613989
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:88
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:3322
HP:0001873	Thrombocytopenia	7015	TERT	OMIM:127550
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:1775
HP:0001873	Thrombocytopenia	9382	COG1	OMIM:611209
HP:0001873	Thrombocytopenia	79631	EFL1	ORPHA:811
HP:0001873	Thrombocytopenia	79631	EFL1	OMIM:617941
HP:0001873	Thrombocytopenia	2533	FYB1	OMIM:273900
HP:0001873	Thrombocytopenia	25839	COG4	ORPHA:263501
HP:0001873	Thrombocytopenia	3458	IFNG	ORPHA:88
HP:0001873	Thrombocytopenia	7012	TERC	ORPHA:88
HP:0001873	Thrombocytopenia	7012	TERC	OMIM:127550
HP:0001873	Thrombocytopenia	7012	TERC	ORPHA:1775
HP:0001873	Thrombocytopenia	9630	GNA14	ORPHA:1063
HP:0001873	Thrombocytopenia	26277	TINF2	OMIM:613990
HP:0001873	Thrombocytopenia	26277	TINF2	ORPHA:3322
HP:0001873	Thrombocytopenia	26277	TINF2	OMIM:127550
HP:0001873	Thrombocytopenia	26277	TINF2	ORPHA:1775
HP:0001873	Thrombocytopenia	348	APOE	OMIM:269600
HP:0001873	Thrombocytopenia	348	APOE	ORPHA:158029
HP:0001873	Thrombocytopenia	3988	LIPA	OMIM:278000
HP:0001873	Thrombocytopenia	92579	G6PC3	OMIM:612541
HP:0001873	Thrombocytopenia	55858	TMEM165	OMIM:614727
HP:0001873	Thrombocytopenia	9103	FCGR2C	ORPHA:3002
HP:0001873	Thrombocytopenia	672	BRCA1	ORPHA:84
HP:0001873	Thrombocytopenia	7516	XRCC2	ORPHA:84
HP:0001873	Thrombocytopenia	29089	UBE2T	ORPHA:84
HP:0001873	Thrombocytopenia	29089	UBE2T	OMIM:616435
HP:0001873	Thrombocytopenia	675	BRCA2	ORPHA:84
HP:0001873	Thrombocytopenia	55120	FANCL	ORPHA:84
HP:0001873	Thrombocytopenia	2178	FANCE	ORPHA:84
HP:0001873	Thrombocytopenia	2178	FANCE	OMIM:600901
HP:0001873	Thrombocytopenia	5888	RAD51	ORPHA:84
HP:0001873	Thrombocytopenia	5889	RAD51C	ORPHA:84
HP:0001873	Thrombocytopenia	55159	RFWD3	ORPHA:84
HP:0001873	Thrombocytopenia	83990	BRIP1	ORPHA:84
HP:0001873	Thrombocytopenia	57697	FANCM	ORPHA:84
HP:0001873	Thrombocytopenia	79728	PALB2	ORPHA:84
HP:0001873	Thrombocytopenia	84464	SLX4	ORPHA:84
HP:0001873	Thrombocytopenia	2072	ERCC4	ORPHA:84
HP:0001873	Thrombocytopenia	55215	FANCI	ORPHA:84
HP:0001873	Thrombocytopenia	8546	AP3B1	OMIM:608233
HP:0001873	Thrombocytopenia	5095	PCCA	OMIM:606054
HP:0001873	Thrombocytopenia	5096	PCCB	OMIM:606054
HP:0001873	Thrombocytopenia	7466	WFS1	OMIM:222300
HP:0001873	Thrombocytopenia	5328	PLAU	OMIM:601709
HP:0001873	Thrombocytopenia	10352	WARS2	ORPHA:572798
HP:0001873	Thrombocytopenia	10352	WARS2	OMIM:617710
HP:0001873	Thrombocytopenia	342618	SLFN14	OMIM:616913
HP:0001873	Thrombocytopenia	4598	MVK	OMIM:610377
HP:0001873	Thrombocytopenia	113235	SLC46A1	OMIM:229050
HP:0001873	Thrombocytopenia	113235	SLC46A1	ORPHA:90045
HP:0001873	Thrombocytopenia	28976	ACAD9	ORPHA:99901
HP:0001873	Thrombocytopenia	28976	ACAD9	OMIM:611126
HP:0001873	Thrombocytopenia	5826	ABCD4	OMIM:614857
HP:0001873	Thrombocytopenia	2321	FLT1	ORPHA:275555
HP:0001873	Thrombocytopenia	219736	STOX1	ORPHA:275555
HP:0001873	Thrombocytopenia	10699	CORIN	ORPHA:275555
HP:0001873	Thrombocytopenia	7456	WIPF1	ORPHA:906
HP:0001873	Thrombocytopenia	7456	WIPF1	OMIM:614493
HP:0001873	Thrombocytopenia	375748	ERCC6L2	OMIM:615715
HP:0001873	Thrombocytopenia	157570	ESCO2	ORPHA:3103
HP:0001873	Thrombocytopenia	2624	GATA2	ORPHA:3226
HP:0001873	Thrombocytopenia	55719	SLF2	OMIM:620184
HP:0001873	Thrombocytopenia	23137	SMC5	OMIM:620185
HP:0001873	Thrombocytopenia	55027	HEATR3	OMIM:620072
HP:0001873	Thrombocytopenia	26227	PHGDH	OMIM:601815
HP:0001873	Thrombocytopenia	6714	SRC	OMIM:616937
HP:0001873	Thrombocytopenia	695	BTK	ORPHA:47
HP:0001873	Thrombocytopenia	4846	NOS3	OMIM:189800
HP:0001873	Thrombocytopenia	1186	CLCN7	OMIM:611490
HP:0001873	Thrombocytopenia	1186	CLCN7	ORPHA:210110
HP:0001873	Thrombocytopenia	7450	VWF	OMIM:613554
HP:0001873	Thrombocytopenia	7450	VWF	OMIM:277480
HP:0001873	Thrombocytopenia	9939	RBM8A	ORPHA:3320
HP:0001873	Thrombocytopenia	9939	RBM8A	OMIM:274000
HP:0001873	Thrombocytopenia	51750	RTEL1	ORPHA:3322
HP:0001873	Thrombocytopenia	51750	RTEL1	ORPHA:1775
HP:0001873	Thrombocytopenia	65057	ACD	ORPHA:3322
HP:0001873	Thrombocytopenia	5073	PARN	ORPHA:3322
HP:0001873	Thrombocytopenia	5073	PARN	ORPHA:1775
HP:0001873	Thrombocytopenia	64241	ABCG8	OMIM:210250
HP:0001873	Thrombocytopenia	28962	OSTM1	OMIM:259720
HP:0001873	Thrombocytopenia	7066	THPO	ORPHA:3319
HP:0001873	Thrombocytopenia	51095	TRNT1	OMIM:616959
HP:0001873	Thrombocytopenia	3075	CFH	OMIM:235400
HP:0001873	Thrombocytopenia	3075	CFH	ORPHA:244242
HP:0001873	Thrombocytopenia	3078	CFHR1	OMIM:235400
HP:0001873	Thrombocytopenia	10878	CFHR3	OMIM:235400
HP:0001873	Thrombocytopenia	8600	TNFSF11	OMIM:259710
HP:0001873	Thrombocytopenia	2982	GUCY1A1	OMIM:615750
HP:0001873	Thrombocytopenia	2982	GUCY1A1	ORPHA:401945
HP:0001873	Thrombocytopenia	54205	CYCS	OMIM:612004
HP:0001873	Thrombocytopenia	3932	LCK	OMIM:615758
HP:0001873	Thrombocytopenia	6775	STAT4	ORPHA:93552
HP:0001873	Thrombocytopenia	6696	SPP1	ORPHA:93552
HP:0001873	Thrombocytopenia	3654	IRAK1	ORPHA:93552
HP:0001873	Thrombocytopenia	6261	RYR1	ORPHA:466650
HP:0001873	Thrombocytopenia	55593	OTUD5	OMIM:301056
HP:0001873	Thrombocytopenia	7317	UBA1	OMIM:301054
HP:0001873	Thrombocytopenia	948	CD36	OMIM:608404
HP:0001873	Thrombocytopenia	998	CDC42	OMIM:616737
HP:0001873	Thrombocytopenia	998	CDC42	ORPHA:487796
HP:0001873	Thrombocytopenia	10560	SLC19A2	ORPHA:49827
HP:0001873	Thrombocytopenia	10560	SLC19A2	OMIM:249270
HP:0001873	Thrombocytopenia	11093	ADAMTS13	OMIM:274150
HP:0001873	Thrombocytopenia	1287	COL4A5	OMIM:301050
HP:0001873	Thrombocytopenia	1991	ELANE	ORPHA:2686
HP:0001873	Thrombocytopenia	79840	NHEJ1	ORPHA:169079
HP:0001873	Thrombocytopenia	3106	HLA-B	ORPHA:36426
HP:0001873	Thrombocytopenia	10320	IKZF1	ORPHA:36426
HP:0001873	Thrombocytopenia	7128	TNFAIP3	OMIM:616744
HP:0001873	Thrombocytopenia	10095	ARPC1B	OMIM:617718
HP:0001873	Thrombocytopenia	3431	SP110	ORPHA:79124
HP:0001873	Thrombocytopenia	3712	IVD	OMIM:243500
HP:0001873	Thrombocytopenia	8985	PLOD3	OMIM:612394
HP:0001873	Thrombocytopenia	57511	COG6	OMIM:614576
HP:0001873	Thrombocytopenia	2475	MTOR	OMIM:616638
HP:0001873	Thrombocytopenia	326625	MMAB	OMIM:251110
HP:0001873	Thrombocytopenia	760	CA2	ORPHA:2785
HP:0001873	Thrombocytopenia	9842	PLEKHM1	ORPHA:210110
HP:0001873	Thrombocytopenia	2065	ERBB3	OMIM:133180
HP:0001873	Thrombocytopenia	2316	FLNA	OMIM:300048
HP:0001873	Thrombocytopenia	101101692	HELLPAR	ORPHA:244242
HP:0001873	Thrombocytopenia	100506658	OCLN	OMIM:251290
HP:0001873	Thrombocytopenia	5294	PIK3CG	OMIM:619802
HP:0001873	Thrombocytopenia	25974	MMACHC	ORPHA:79282
HP:0001873	Thrombocytopenia	25974	MMACHC	OMIM:277400
HP:0001873	Thrombocytopenia	80169	CTC1	OMIM:612199
HP:0001873	Thrombocytopenia	80169	CTC1	ORPHA:1775
HP:0001873	Thrombocytopenia	79650	USB1	ORPHA:1775
HP:0001873	Thrombocytopenia	55135	WRAP53	ORPHA:1775
HP:0001873	Thrombocytopenia	7298	TYMS	ORPHA:1775
HP:0001873	Thrombocytopenia	2212	FCGR2A	OMIM:152700
HP:0001873	Thrombocytopenia	2213	FCGR2B	OMIM:152700
HP:0001873	Thrombocytopenia	26191	PTPN22	OMIM:152700
HP:0001873	Thrombocytopenia	1773	DNASE1	OMIM:152700
HP:0001873	Thrombocytopenia	1794	DOCK2	OMIM:616433
HP:0001873	Thrombocytopenia	5052	PRDX1	OMIM:277400
HP:0001873	Thrombocytopenia	6773	STAT2	OMIM:618886
HP:0001873	Thrombocytopenia	4627	MYH9	ORPHA:182050
HP:0001873	Thrombocytopenia	7454	WAS	OMIM:313900
HP:0001873	Thrombocytopenia	2122	MECOM	OMIM:616738
HP:0001873	Thrombocytopenia	2623	GATA1	OMIM:300367
HP:0001873	Thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0001873	Thrombocytopenia	355	FAS	ORPHA:3261
HP:0001873	Thrombocytopenia	355	FAS	OMIM:601859
HP:0001873	Thrombocytopenia	356	FASLG	ORPHA:3261
HP:0001873	Thrombocytopenia	356	FASLG	OMIM:601859
HP:0001873	Thrombocytopenia	5580	PRKCD	ORPHA:3261
HP:0001873	Thrombocytopenia	5580	PRKCD	OMIM:615559
HP:0001873	Thrombocytopenia	5580	PRKCD	ORPHA:1572
HP:0001873	Thrombocytopenia	843	CASP10	ORPHA:3261
HP:0001873	Thrombocytopenia	843	CASP10	OMIM:603909
HP:0001873	Thrombocytopenia	10125	RASGRP1	ORPHA:3261
HP:0001873	Thrombocytopenia	10125	RASGRP1	OMIM:618534
HP:0001873	Thrombocytopenia	6772	STAT1	ORPHA:391487
HP:0001873	Thrombocytopenia	10043	TOM1	ORPHA:391487
HP:0001873	Thrombocytopenia	4791	NFKB2	ORPHA:293978
HP:0001873	Thrombocytopenia	4791	NFKB2	ORPHA:1572
HP:0001873	Thrombocytopenia	3702	ITK	OMIM:613011
HP:0001873	Thrombocytopenia	975	CD81	OMIM:613496
HP:0001873	Thrombocytopenia	975	CD81	ORPHA:1572
HP:0001873	Thrombocytopenia	6774	STAT3	OMIM:615952
HP:0001873	Thrombocytopenia	4860	PNP	OMIM:613179
HP:0001873	Thrombocytopenia	4860	PNP	ORPHA:760
HP:0001873	Thrombocytopenia	987	LRBA	OMIM:614700
HP:0001873	Thrombocytopenia	54440	SASH3	OMIM:301082
HP:0001873	Thrombocytopenia	50943	FOXP3	OMIM:304790
HP:0001873	Thrombocytopenia	50943	FOXP3	ORPHA:37042
HP:0001873	Thrombocytopenia	7174	TPP2	ORPHA:444463
HP:0001873	Thrombocytopenia	7174	TPP2	OMIM:619220
HP:0001873	Thrombocytopenia	51284	TLR7	OMIM:301080
HP:0001873	Thrombocytopenia	3575	IL7R	ORPHA:169154
HP:0001873	Thrombocytopenia	3845	KRAS	OMIM:614470
HP:0001873	Thrombocytopenia	4893	NRAS	OMIM:614470
HP:0001873	Thrombocytopenia	56259	CTNNBL1	OMIM:619846
HP:0001873	Thrombocytopenia	5994	RFXAP	ORPHA:572
HP:0001873	Thrombocytopenia	4261	CIITA	ORPHA:572
HP:0001873	Thrombocytopenia	5993	RFX5	ORPHA:572
HP:0001873	Thrombocytopenia	8625	RFXANK	ORPHA:572
HP:0001873	Thrombocytopenia	54	ACP5	OMIM:607944
HP:0001873	Thrombocytopenia	54	ACP5	ORPHA:1855
HP:0001873	Thrombocytopenia	6609	SMPD1	ORPHA:77293
HP:0001873	Thrombocytopenia	84061	MAGT1	OMIM:300853
HP:0001873	Thrombocytopenia	8651	SOCS1	OMIM:619375
HP:0001873	Thrombocytopenia	1493	CTLA4	OMIM:616100
HP:0001873	Thrombocytopenia	27040	LAT	OMIM:617514
HP:0001873	Thrombocytopenia	100	ADA	OMIM:102700
HP:0001873	Thrombocytopenia	2581	GALC	OMIM:245200
HP:0001873	Thrombocytopenia	23495	TNFRSF13B	ORPHA:1572
HP:0001873	Thrombocytopenia	4790	NFKB1	ORPHA:1572
HP:0001873	Thrombocytopenia	115650	TNFRSF13C	ORPHA:1572
HP:0001873	Thrombocytopenia	1380	CR2	ORPHA:1572
HP:0001873	Thrombocytopenia	8742	TNFSF12	ORPHA:1572
HP:0001873	Thrombocytopenia	930	CD19	ORPHA:1572
HP:0001873	Thrombocytopenia	29851	ICOS	ORPHA:1572
HP:0001873	Thrombocytopenia	931	MS4A1	ORPHA:1572
HP:0001873	Thrombocytopenia	359948	IRF2BP2	ORPHA:1572
HP:0001873	Thrombocytopenia	9138	ARHGEF1	OMIM:618459
HP:0001873	Thrombocytopenia	7535	ZAP70	ORPHA:911
HP:0001873	Thrombocytopenia	8085	KMT2D	OMIM:147920
HP:0001873	Thrombocytopenia	7403	KDM6A	OMIM:147920
HP:0001873	Thrombocytopenia	10535	RNASEH2A	ORPHA:51
HP:0001873	Thrombocytopenia	84153	RNASEH2C	ORPHA:51
HP:0001873	Thrombocytopenia	25939	SAMHD1	ORPHA:51
HP:0001873	Thrombocytopenia	79621	RNASEH2B	ORPHA:51
HP:0001873	Thrombocytopenia	103	ADAR	ORPHA:51
HP:0001873	Thrombocytopenia	11277	TREX1	ORPHA:51
HP:0001873	Thrombocytopenia	100147744	RNU7-1	ORPHA:51
HP:0001873	Thrombocytopenia	134353	LSM11	ORPHA:51
HP:0001873	Thrombocytopenia	64135	IFIH1	ORPHA:51
HP:0001873	Thrombocytopenia	2811	GP1BA	ORPHA:853
HP:0001873	Thrombocytopenia	2812	GP1BB	ORPHA:853
HP:0001873	Thrombocytopenia	3674	ITGA2B	ORPHA:853
HP:0001873	Thrombocytopenia	3673	ITGA2	ORPHA:853
HP:0001873	Thrombocytopenia	135228	CD109	ORPHA:853
HP:0001873	Thrombocytopenia	3690	ITGB3	ORPHA:853
HP:0001873	Thrombocytopenia	9948	WDR1	OMIM:150550
HP:0001873	Thrombocytopenia	7037	TFRC	OMIM:616740
HP:0001873	Thrombocytopenia	4352	MPL	OMIM:604498
HP:0001873	Thrombocytopenia	5604	MAP2K1	OMIM:163950
HP:0001873	Thrombocytopenia	5781	PTPN11	OMIM:163950
HP:0001873	Thrombocytopenia	673	BRAF	OMIM:163950
HP:0001873	Thrombocytopenia	2815	GP9	OMIM:231200
HP:0001873	Thrombocytopenia	2815	GP9	ORPHA:274
HP:0001873	Thrombocytopenia	81027	TUBB1	OMIM:613112
HP:0001873	Thrombocytopenia	10559	SLC35A1	OMIM:603585
HP:0001873	Thrombocytopenia	1729	DIAPH1	OMIM:124900
HP:0001873	Thrombocytopenia	51807	TUBA8	OMIM:619840
HP:0001873	Thrombocytopenia	8328	GFI1B	OMIM:187900
HP:0001873	Thrombocytopenia	5568	PRKACG	OMIM:616176
HP:0008179	Decreased Arden ratio of electrooculogram	3617	IMPG1	OMIM:616151
HP:0034031	Facial cyanosis	3785	KCNQ2	ORPHA:1949
HP:0034031	Facial cyanosis	3786	KCNQ3	ORPHA:1949
HP:0034032	Central cyanosis	171019	ADAMTS19	OMIM:620067
HP:0034033	Peripheral cyanosis	23474	ETHE1	ORPHA:51188
HP:0034033	Peripheral cyanosis	23474	ETHE1	OMIM:602473
HP:0034033	Peripheral cyanosis	8518	ELP1	OMIM:223900
HP:0034033	Peripheral cyanosis	8518	ELP1	ORPHA:1764
HP:0034033	Peripheral cyanosis	6197	RPS6KA3	OMIM:303600
HP:0034033	Peripheral cyanosis	189	AGXT	OMIM:259900
HP:0034033	Peripheral cyanosis	2517	FUCA1	ORPHA:349
HP:0034033	Peripheral cyanosis	6925	TCF4	ORPHA:2896
HP:0034033	Peripheral cyanosis	4598	MVK	ORPHA:343
HP:0034033	Peripheral cyanosis	1277	COL1A1	ORPHA:287
HP:0034033	Peripheral cyanosis	1289	COL5A1	ORPHA:287
HP:0034033	Peripheral cyanosis	1290	COL5A2	ORPHA:287
HP:0034033	Peripheral cyanosis	11277	TREX1	OMIM:225750
HP:0034033	Peripheral cyanosis	11277	TREX1	ORPHA:51
HP:0034033	Peripheral cyanosis	10801	SEPTIN9	ORPHA:2901
HP:0034033	Peripheral cyanosis	10535	RNASEH2A	ORPHA:51
HP:0034033	Peripheral cyanosis	84153	RNASEH2C	ORPHA:51
HP:0034033	Peripheral cyanosis	25939	SAMHD1	ORPHA:51
HP:0034033	Peripheral cyanosis	79621	RNASEH2B	ORPHA:51
HP:0034033	Peripheral cyanosis	103	ADAR	ORPHA:51
HP:0034033	Peripheral cyanosis	100147744	RNU7-1	ORPHA:51
HP:0034033	Peripheral cyanosis	134353	LSM11	ORPHA:51
HP:0034033	Peripheral cyanosis	64135	IFIH1	ORPHA:51
HP:0034033	Peripheral cyanosis	5077	PAX3	ORPHA:896
HP:0034033	Peripheral cyanosis	3785	KCNQ2	ORPHA:1949
HP:0034033	Peripheral cyanosis	3786	KCNQ3	ORPHA:1949
HP:0034039	Ventricular couplet	6262	RYR2	OMIM:604772
HP:0034039	Ventricular couplet	845	CASQ2	OMIM:604772
HP:0034039	Ventricular couplet	10345	TRDN	OMIM:604772
HP:0008181	Abetalipoproteinemia	4547	MTTP	OMIM:200100
HP:0008180	Mildly elevated creatine kinase	7072	TIA1	OMIM:604454
HP:0008180	Mildly elevated creatine kinase	7072	TIA1	ORPHA:603
HP:0008180	Mildly elevated creatine kinase	79784	MYH14	ORPHA:397744
HP:0008180	Mildly elevated creatine kinase	79784	MYH14	OMIM:614369
HP:0008180	Mildly elevated creatine kinase	1291	COL6A1	OMIM:254090
HP:0008180	Mildly elevated creatine kinase	1292	COL6A2	OMIM:254090
HP:0008180	Mildly elevated creatine kinase	1293	COL6A3	OMIM:254090
HP:0008180	Mildly elevated creatine kinase	2318	FLNC	OMIM:614065
HP:0008180	Mildly elevated creatine kinase	400916	CHCHD10	ORPHA:457050
HP:0008180	Mildly elevated creatine kinase	2673	GFPT1	OMIM:610542
HP:0008180	Mildly elevated creatine kinase	5428	POLG	OMIM:258450
HP:0008180	Mildly elevated creatine kinase	5428	POLG	OMIM:607459
HP:0008180	Mildly elevated creatine kinase	4703	NEB	OMIM:256030
HP:0008180	Mildly elevated creatine kinase	4703	NEB	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	58	ACTA1	OMIM:161800
HP:0008180	Mildly elevated creatine kinase	58	ACTA1	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	100134444	KCNJ18	ORPHA:79102
HP:0008180	Mildly elevated creatine kinase	2556	GABRA3	ORPHA:79102
HP:0008180	Mildly elevated creatine kinase	779	CACNA1S	ORPHA:79102
HP:0008180	Mildly elevated creatine kinase	779	CACNA1S	ORPHA:681
HP:0008180	Mildly elevated creatine kinase	274	BIN1	ORPHA:169189
HP:0008180	Mildly elevated creatine kinase	64419	MTMR14	ORPHA:169189
HP:0008180	Mildly elevated creatine kinase	64419	MTMR14	OMIM:160150
HP:0008180	Mildly elevated creatine kinase	4618	MYF6	ORPHA:169189
HP:0008180	Mildly elevated creatine kinase	1785	DNM2	ORPHA:169189
HP:0008180	Mildly elevated creatine kinase	1785	DNM2	OMIM:160150
HP:0008180	Mildly elevated creatine kinase	6261	RYR1	ORPHA:169189
HP:0008180	Mildly elevated creatine kinase	4625	MYH7	ORPHA:59135
HP:0008180	Mildly elevated creatine kinase	4625	MYH7	OMIM:160500
HP:0008180	Mildly elevated creatine kinase	4625	MYH7	OMIM:608358
HP:0008180	Mildly elevated creatine kinase	4000	LMNA	OMIM:181350
HP:0008180	Mildly elevated creatine kinase	1303	COL12A1	ORPHA:536516
HP:0008180	Mildly elevated creatine kinase	4568	MT-TL2	ORPHA:663
HP:0008180	Mildly elevated creatine kinase	4567	MT-TL1	ORPHA:663
HP:0008180	Mildly elevated creatine kinase	4570	MT-TN	ORPHA:663
HP:0008180	Mildly elevated creatine kinase	4574	MT-TS1	ORPHA:663
HP:0008180	Mildly elevated creatine kinase	54870	QRICH1	OMIM:617982
HP:0008180	Mildly elevated creatine kinase	1299	COL9A3	OMIM:600969
HP:0008180	Mildly elevated creatine kinase	10730	YME1L1	OMIM:617302
HP:0008180	Mildly elevated creatine kinase	3033	HADH	ORPHA:71212
HP:0008180	Mildly elevated creatine kinase	10342	TFG	OMIM:604484
HP:0008180	Mildly elevated creatine kinase	4358	MPV17	OMIM:618400
HP:0008180	Mildly elevated creatine kinase	122622	ADSS1	OMIM:617030
HP:0008180	Mildly elevated creatine kinase	57449	PLEKHG5	OMIM:615376
HP:0008180	Mildly elevated creatine kinase	7415	VCP	ORPHA:329478
HP:0008180	Mildly elevated creatine kinase	7317	UBA1	ORPHA:1145
HP:0008180	Mildly elevated creatine kinase	84665	MYPN	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	7169	TPM2	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	390594	KBTBD13	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	10324	KLHL41	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	7170	TPM3	ORPHA:171439
HP:0008180	Mildly elevated creatine kinase	55681	SCYL2	ORPHA:1143
HP:0008180	Mildly elevated creatine kinase	84570	COL25A1	ORPHA:1143
HP:0008180	Mildly elevated creatine kinase	57222	ERGIC1	ORPHA:1143
HP:0008180	Mildly elevated creatine kinase	85365	ALG2	OMIM:616228
HP:0008180	Mildly elevated creatine kinase	7273	TTN	ORPHA:609
HP:0008180	Mildly elevated creatine kinase	8878	SQSTM1	ORPHA:603
HP:0008180	Mildly elevated creatine kinase	5190	PEX6	ORPHA:95433
HP:0008180	Mildly elevated creatine kinase	9782	MATR3	ORPHA:600
HP:0008180	Mildly elevated creatine kinase	10020	GNE	ORPHA:602
HP:0008180	Mildly elevated creatine kinase	10367	MICU1	ORPHA:401768
HP:0008180	Mildly elevated creatine kinase	6329	SCN4A	ORPHA:681
HP:0008180	Mildly elevated creatine kinase	10008	KCNE3	ORPHA:681
HP:0008180	Mildly elevated creatine kinase	56652	TWNK	OMIM:607459
HP:0008180	Mildly elevated creatine kinase	4556	MT-TE	ORPHA:254864
HP:0008180	Mildly elevated creatine kinase	55687	TRMU	ORPHA:254864
HP:0008180	Mildly elevated creatine kinase	5442	POLRMT	OMIM:619743
HP:0008180	Mildly elevated creatine kinase	79147	FKRP	ORPHA:370980
HP:0008180	Mildly elevated creatine kinase	2218	FKTN	ORPHA:370980
HP:0008180	Mildly elevated creatine kinase	729920	CRPPA	ORPHA:370980
HP:0008180	Mildly elevated creatine kinase	10585	POMT1	ORPHA:370980
HP:0008180	Mildly elevated creatine kinase	55154	MSTO1	ORPHA:502423
HP:0008180	Mildly elevated creatine kinase	9325	TRIP4	ORPHA:486815
HP:0008180	Mildly elevated creatine kinase	285489	DOK7	OMIM:254300
HP:0001892	Abnormal bleeding	5618	PRLR	OMIM:615555
HP:0001892	Abnormal bleeding	5618	PRLR	ORPHA:397685
HP:0001892	Abnormal bleeding	11234	HPS5	OMIM:614074
HP:0001892	Abnormal bleeding	84062	DTNBP1	OMIM:614076
HP:0001892	Abnormal bleeding	10235	RASGRP2	OMIM:615888
HP:0001892	Abnormal bleeding	63915	BLOC1S5	OMIM:619172
HP:0001892	Abnormal bleeding	51206	GP6	OMIM:614201
HP:0001892	Abnormal bleeding	5328	PLAU	OMIM:601709
HP:0001892	Abnormal bleeding	342618	SLFN14	OMIM:616913
HP:0001892	Abnormal bleeding	1729	DIAPH1	OMIM:124900
HP:0001892	Abnormal bleeding	10068	IL18BP	OMIM:618549
HP:0001892	Abnormal bleeding	847	CAT	ORPHA:926
HP:0001892	Abnormal bleeding	63916	ELMO2	OMIM:606893
HP:0001892	Abnormal bleeding	3123	HLA-DRB1	ORPHA:397
HP:0001892	Abnormal bleeding	8974	P4HA2	ORPHA:397
HP:0001892	Abnormal bleeding	87	ACTN1	OMIM:615193
HP:0001892	Abnormal bleeding	4010	LMX1B	ORPHA:495818
HP:0001892	Abnormal bleeding	6812	STXBP1	ORPHA:495818
HP:0001892	Abnormal bleeding	1053	CEBPE	OMIM:260570
HP:0001892	Abnormal bleeding	5205	ATP8B1	OMIM:211600
HP:0001892	Abnormal bleeding	2639	GCDH	ORPHA:25
HP:0001892	Abnormal bleeding	3458	IFNG	ORPHA:88
HP:0001892	Abnormal bleeding	5551	PRF1	ORPHA:88
HP:0001892	Abnormal bleeding	7012	TERC	ORPHA:88
HP:0001892	Abnormal bleeding	51119	SBDS	ORPHA:88
HP:0001892	Abnormal bleeding	11277	TREX1	OMIM:192315
HP:0001892	Abnormal bleeding	5167	ENPP1	ORPHA:51608
HP:0001892	Abnormal bleeding	5167	ENPP1	ORPHA:758
HP:0001892	Abnormal bleeding	1161	ERCC8	ORPHA:90324
HP:0001892	Abnormal bleeding	2074	ERCC6	ORPHA:90324
HP:0001892	Abnormal bleeding	3913	LAMB2	OMIM:609049
HP:0001892	Abnormal bleeding	4615	MYD88	ORPHA:33226
HP:0001892	Abnormal bleeding	64131	XYLT1	OMIM:264800
HP:0001892	Abnormal bleeding	64132	XYLT2	OMIM:264800
HP:0001892	Abnormal bleeding	1785	DNM2	OMIM:615368
HP:0001892	Abnormal bleeding	667	DST	OMIM:614653
HP:0001892	Abnormal bleeding	54809	SAMD9	OMIM:617053
HP:0001892	Abnormal bleeding	7456	WIPF1	ORPHA:906
HP:0001892	Abnormal bleeding	23474	ETHE1	OMIM:602473
HP:0001892	Abnormal bleeding	23474	ETHE1	ORPHA:51188
HP:0001892	Abnormal bleeding	2629	GBA1	OMIM:608013
HP:0001892	Abnormal bleeding	8676	STX11	ORPHA:540
HP:0001892	Abnormal bleeding	201294	UNC13D	ORPHA:540
HP:0001892	Abnormal bleeding	6813	STXBP2	ORPHA:540
HP:0001892	Abnormal bleeding	2120	ETV6	OMIM:616216
HP:0001892	Abnormal bleeding	5184	PEPD	OMIM:170100
HP:0001892	Abnormal bleeding	100506658	OCLN	OMIM:251290
HP:0001892	Abnormal bleeding	2533	FYB1	OMIM:273900
HP:0001892	Abnormal bleeding	9630	GNA14	ORPHA:1063
HP:0001892	Abnormal bleeding	1186	CLCN7	OMIM:611490
HP:0001892	Abnormal bleeding	3937	LCP2	OMIM:619374
HP:0001892	Abnormal bleeding	4668	NAGA	OMIM:609242
HP:0001892	Abnormal bleeding	55340	GIMAP5	OMIM:619463
HP:0001892	Abnormal bleeding	64858	DCLRE1B	OMIM:620133
HP:0001892	Abnormal bleeding	3207	HOXA11	OMIM:605432
HP:0001892	Abnormal bleeding	5873	RAB27A	ORPHA:79477
HP:0001892	Abnormal bleeding	4758	NEU1	ORPHA:93400
HP:0001892	Abnormal bleeding	7148	TNXB	ORPHA:230839
HP:0001892	Abnormal bleeding	7148	TNXB	OMIM:606408
HP:0001892	Abnormal bleeding	2778	GNAS	OMIM:219080
HP:0001892	Abnormal bleeding	2778	GNAS	ORPHA:189427
HP:0001892	Abnormal bleeding	10312	TCIRG1	ORPHA:667
HP:0001892	Abnormal bleeding	29887	SNX10	ORPHA:667
HP:0001892	Abnormal bleeding	8600	TNFSF11	ORPHA:667
HP:0001892	Abnormal bleeding	1278	COL1A2	ORPHA:230851
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:617821
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:225320
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:619120
HP:0001892	Abnormal bleeding	2175	FANCA	OMIM:227650
HP:0001892	Abnormal bleeding	50940	PDE11A	OMIM:610475
HP:0001892	Abnormal bleeding	50940	PDE11A	ORPHA:1359
HP:0001892	Abnormal bleeding	50940	PDE11A	ORPHA:189439
HP:0001892	Abnormal bleeding	55033	FKBP14	OMIM:614557
HP:0001892	Abnormal bleeding	55033	FKBP14	ORPHA:300179
HP:0001892	Abnormal bleeding	7132	TNFRSF1A	ORPHA:32960
HP:0001892	Abnormal bleeding	3039	HBA1	ORPHA:98791
HP:0001892	Abnormal bleeding	3040	HBA2	ORPHA:98791
HP:0001892	Abnormal bleeding	165	AEBP1	OMIM:618000
HP:0001892	Abnormal bleeding	165	AEBP1	ORPHA:536532
HP:0001892	Abnormal bleeding	5831	PYCR1	OMIM:612940
HP:0001892	Abnormal bleeding	4784	NFIX	ORPHA:561
HP:0001892	Abnormal bleeding	22852	ANKRD26	OMIM:188000
HP:0001892	Abnormal bleeding	2178	FANCE	OMIM:600901
HP:0001892	Abnormal bleeding	11107	PRDM5	OMIM:614170
HP:0001892	Abnormal bleeding	11107	PRDM5	ORPHA:90354
HP:0001892	Abnormal bleeding	633	BGN	OMIM:300989
HP:0001892	Abnormal bleeding	4507	MTAP	OMIM:112250
HP:0001892	Abnormal bleeding	8985	PLOD3	OMIM:612394
HP:0001892	Abnormal bleeding	716	C1S	OMIM:617174
HP:0001892	Abnormal bleeding	5566	PRKACA	OMIM:615830
HP:0001892	Abnormal bleeding	5566	PRKACA	ORPHA:189439
HP:0001892	Abnormal bleeding	8622	PDE8B	ORPHA:189439
HP:0001892	Abnormal bleeding	540	ATP7B	ORPHA:905
HP:0001892	Abnormal bleeding	715	C1R	OMIM:130080
HP:0001892	Abnormal bleeding	2934	GSN	ORPHA:85448
HP:0001892	Abnormal bleeding	5594	MAPK1	OMIM:619087
HP:0001892	Abnormal bleeding	79798	ARMC5	ORPHA:189427
HP:0001892	Abnormal bleeding	84627	ZNF469	ORPHA:90354
HP:0001892	Abnormal bleeding	23387	SIK3	OMIM:618162
HP:0001892	Abnormal bleeding	126792	B3GALT6	ORPHA:536467
HP:0001892	Abnormal bleeding	11117	EMILIN1	OMIM:620080
HP:0001892	Abnormal bleeding	2177	FANCD2	OMIM:227646
HP:0001892	Abnormal bleeding	2176	FANCC	OMIM:227645
HP:0001892	Abnormal bleeding	81031	SLC2A10	OMIM:208050
HP:0001892	Abnormal bleeding	60681	FKBP10	OMIM:610968
HP:0001892	Abnormal bleeding	4914	NTRK1	ORPHA:642
HP:0001892	Abnormal bleeding	91252	SLC39A13	ORPHA:157965
HP:0001892	Abnormal bleeding	91252	SLC39A13	OMIM:612350
HP:0001892	Abnormal bleeding	950	SCARB2	ORPHA:77259
HP:0001892	Abnormal bleeding	720	C4A	OMIM:614380
HP:0001892	Abnormal bleeding	975	CD81	OMIM:613496
HP:0001892	Abnormal bleeding	975	CD81	ORPHA:1572
HP:0001892	Abnormal bleeding	1493	CTLA4	ORPHA:900
HP:0001892	Abnormal bleeding	26191	PTPN22	ORPHA:900
HP:0001892	Abnormal bleeding	3115	HLA-DPB1	ORPHA:900
HP:0001892	Abnormal bleeding	5657	PRTN3	ORPHA:900
HP:0001892	Abnormal bleeding	3113	HLA-DPA1	ORPHA:900
HP:0001892	Abnormal bleeding	7036	TFR2	OMIM:604250
HP:0001892	Abnormal bleeding	4598	MVK	ORPHA:343
HP:0001892	Abnormal bleeding	54	ACP5	OMIM:607944
HP:0001892	Abnormal bleeding	1312	COMT	ORPHA:567
HP:0001892	Abnormal bleeding	221037	JMJD1C	ORPHA:567
HP:0001892	Abnormal bleeding	6239	RREB1	ORPHA:567
HP:0001892	Abnormal bleeding	6899	TBX1	ORPHA:567
HP:0001892	Abnormal bleeding	7290	HIRA	ORPHA:567
HP:0001892	Abnormal bleeding	9632	SEC24C	ORPHA:567
HP:0001892	Abnormal bleeding	7353	UFD1	ORPHA:567
HP:0001892	Abnormal bleeding	421	ARVCF	ORPHA:567
HP:0001892	Abnormal bleeding	84876	ORAI1	ORPHA:3204
HP:0001892	Abnormal bleeding	717	C2	OMIM:217000
HP:0001892	Abnormal bleeding	114548	NLRP3	ORPHA:1451
HP:0001892	Abnormal bleeding	23495	TNFRSF13B	ORPHA:1572
HP:0001892	Abnormal bleeding	4790	NFKB1	ORPHA:1572
HP:0001892	Abnormal bleeding	4791	NFKB2	ORPHA:1572
HP:0001892	Abnormal bleeding	115650	TNFRSF13C	ORPHA:1572
HP:0001892	Abnormal bleeding	1380	CR2	ORPHA:1572
HP:0001892	Abnormal bleeding	8742	TNFSF12	ORPHA:1572
HP:0001892	Abnormal bleeding	930	CD19	ORPHA:1572
HP:0001892	Abnormal bleeding	29851	ICOS	ORPHA:1572
HP:0001892	Abnormal bleeding	931	MS4A1	ORPHA:1572
HP:0001892	Abnormal bleeding	1471	CST3	OMIM:105150
HP:0001892	Abnormal bleeding	1471	CST3	ORPHA:100008
HP:0001892	Abnormal bleeding	10019	SH2B3	OMIM:133100
HP:0001892	Abnormal bleeding	7428	VHL	OMIM:263400
HP:0001892	Abnormal bleeding	7428	VHL	OMIM:171300
HP:0001892	Abnormal bleeding	7428	VHL	ORPHA:29072
HP:0001892	Abnormal bleeding	7428	VHL	ORPHA:276621
HP:0001892	Abnormal bleeding	2132	EXT2	OMIM:616682
HP:0001892	Abnormal bleeding	55654	TMEM127	OMIM:171300
HP:0001892	Abnormal bleeding	55654	TMEM127	ORPHA:29072
HP:0001892	Abnormal bleeding	5979	RET	OMIM:171300
HP:0001892	Abnormal bleeding	5979	RET	ORPHA:29072
HP:0001892	Abnormal bleeding	5979	RET	ORPHA:276621
HP:0001892	Abnormal bleeding	6390	SDHB	OMIM:171300
HP:0001892	Abnormal bleeding	6390	SDHB	ORPHA:29072
HP:0001892	Abnormal bleeding	6390	SDHB	ORPHA:276621
HP:0001892	Abnormal bleeding	6392	SDHD	OMIM:171300
HP:0001892	Abnormal bleeding	6392	SDHD	ORPHA:29072
HP:0001892	Abnormal bleeding	6392	SDHD	ORPHA:276621
HP:0001892	Abnormal bleeding	4149	MAX	OMIM:171300
HP:0001892	Abnormal bleeding	4149	MAX	ORPHA:29072
HP:0001892	Abnormal bleeding	1743	DLST	ORPHA:29072
HP:0001892	Abnormal bleeding	4191	MDH2	ORPHA:29072
HP:0001892	Abnormal bleeding	6389	SDHA	ORPHA:29072
HP:0001892	Abnormal bleeding	23095	KIF1B	ORPHA:29072
HP:0001892	Abnormal bleeding	2271	FH	ORPHA:29072
HP:0001892	Abnormal bleeding	8402	SLC25A11	ORPHA:29072
HP:0001892	Abnormal bleeding	54949	SDHAF2	ORPHA:29072
HP:0001892	Abnormal bleeding	4763	NF1	ORPHA:29072
HP:0001892	Abnormal bleeding	6391	SDHC	ORPHA:29072
HP:0001892	Abnormal bleeding	8314	BAP1	ORPHA:2495
HP:0001892	Abnormal bleeding	4771	NF2	ORPHA:2495
HP:0001892	Abnormal bleeding	6598	SMARCB1	ORPHA:2495
HP:0001892	Abnormal bleeding	5155	PDGFB	ORPHA:2495
HP:0001892	Abnormal bleeding	84231	TRAF7	ORPHA:2495
HP:0001892	Abnormal bleeding	6608	SMO	ORPHA:2495
HP:0001892	Abnormal bleeding	207	AKT1	ORPHA:2495
HP:0001892	Abnormal bleeding	5290	PIK3CA	ORPHA:2495
HP:0001892	Abnormal bleeding	7015	TERT	ORPHA:2495
HP:0001892	Abnormal bleeding	51684	SUFU	ORPHA:2495
HP:0001892	Abnormal bleeding	6605	SMARCE1	ORPHA:2495
HP:0001892	Abnormal bleeding	8517	IKBKG	OMIM:301081
HP:0001892	Abnormal bleeding	1282	COL4A1	OMIM:175780
HP:0001892	Abnormal bleeding	2335	FN1	ORPHA:84090
HP:0001892	Abnormal bleeding	11235	PDCD10	OMIM:603285
HP:0001892	Abnormal bleeding	11235	PDCD10	ORPHA:221061
HP:0001892	Abnormal bleeding	83605	CCM2	OMIM:603284
HP:0001892	Abnormal bleeding	83605	CCM2	ORPHA:221061
HP:0001892	Abnormal bleeding	889	KRIT1	ORPHA:221061
HP:0001892	Abnormal bleeding	368	ABCC6	OMIM:177850
HP:0001892	Abnormal bleeding	3075	CFH	ORPHA:244242
HP:0001892	Abnormal bleeding	3426	CFI	ORPHA:244242
HP:0001892	Abnormal bleeding	4179	CD46	ORPHA:244242
HP:0001892	Abnormal bleeding	101101692	HELLPAR	ORPHA:244242
HP:0001892	Abnormal bleeding	5627	PROS1	OMIM:614514
HP:0001892	Abnormal bleeding	4854	NOTCH3	ORPHA:136
HP:0001892	Abnormal bleeding	51816	ADA2	OMIM:182410
HP:0001892	Abnormal bleeding	442721	LMOD2	OMIM:619897
HP:0001892	Abnormal bleeding	11274	USP18	OMIM:617397
HP:0001892	Abnormal bleeding	727676	SNORD118	ORPHA:542310
HP:0001892	Abnormal bleeding	6773	STAT2	OMIM:618886
HP:0001892	Abnormal bleeding	79184	BRCC3	ORPHA:280679
HP:0001892	Abnormal bleeding	1788	DNMT3A	ORPHA:276621
HP:0001892	Abnormal bleeding	2034	EPAS1	ORPHA:276621
HP:0001892	Abnormal bleeding	9103	FCGR2C	ORPHA:3002
HP:0001892	Abnormal bleeding	3690	ITGB3	OMIM:619271
HP:0001892	Abnormal bleeding	3690	ITGB3	ORPHA:853
HP:0001892	Abnormal bleeding	3690	ITGB3	OMIM:619267
HP:0001892	Abnormal bleeding	4352	MPL	ORPHA:71493
HP:0001892	Abnormal bleeding	4352	MPL	ORPHA:824
HP:0001892	Abnormal bleeding	7066	THPO	ORPHA:71493
HP:0001892	Abnormal bleeding	3717	JAK2	ORPHA:71493
HP:0001892	Abnormal bleeding	3717	JAK2	ORPHA:824
HP:0001892	Abnormal bleeding	355	FAS	ORPHA:3261
HP:0001892	Abnormal bleeding	356	FASLG	ORPHA:3261
HP:0001892	Abnormal bleeding	5580	PRKCD	ORPHA:3261
HP:0001892	Abnormal bleeding	843	CASP10	ORPHA:3261
HP:0001892	Abnormal bleeding	10125	RASGRP1	ORPHA:3261
HP:0001892	Abnormal bleeding	2157	F8	ORPHA:177926
HP:0001892	Abnormal bleeding	2157	F8	ORPHA:169805
HP:0001892	Abnormal bleeding	2811	GP1BA	ORPHA:274
HP:0001892	Abnormal bleeding	2811	GP1BA	ORPHA:853
HP:0001892	Abnormal bleeding	2811	GP1BA	OMIM:231200
HP:0001892	Abnormal bleeding	2812	GP1BB	ORPHA:274
HP:0001892	Abnormal bleeding	2812	GP1BB	ORPHA:853
HP:0001892	Abnormal bleeding	2812	GP1BB	OMIM:231200
HP:0001892	Abnormal bleeding	2815	GP9	ORPHA:274
HP:0001892	Abnormal bleeding	2815	GP9	OMIM:231200
HP:0001892	Abnormal bleeding	2243	FGA	OMIM:202400
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:98880
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:98881
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:101041
HP:0001892	Abnormal bleeding	2244	FGB	OMIM:202400
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:98880
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:98881
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:101041
HP:0001892	Abnormal bleeding	2266	FGG	OMIM:202400
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:98880
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:98881
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:101041
HP:0001892	Abnormal bleeding	3998	LMAN1	OMIM:227300
HP:0001892	Abnormal bleeding	5193	PEX12	OMIM:266510
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:329971
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:79076
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:157794
HP:0001892	Abnormal bleeding	4089	SMAD4	ORPHA:329971
HP:0001892	Abnormal bleeding	2022	ENG	ORPHA:329971
HP:0001892	Abnormal bleeding	811	CALR	ORPHA:824
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:824
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:75564
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:98826
HP:0001892	Abnormal bleeding	2057	EPOR	ORPHA:90042
HP:0001892	Abnormal bleeding	6261	RYR1	ORPHA:466650
HP:0001892	Abnormal bleeding	80270	HSD3B7	ORPHA:79301
HP:0001892	Abnormal bleeding	23451	SF3B1	ORPHA:75564
HP:0001892	Abnormal bleeding	2677	GGCX	ORPHA:91135
HP:0001892	Abnormal bleeding	2677	GGCX	OMIM:277450
HP:0001892	Abnormal bleeding	2677	GGCX	OMIM:610842
HP:0001892	Abnormal bleeding	2158	F9	OMIM:306900
HP:0001892	Abnormal bleeding	10559	SLC35A1	ORPHA:238459
HP:0001892	Abnormal bleeding	948	CD36	OMIM:608404
HP:0001892	Abnormal bleeding	79868	ALG13	OMIM:300884
HP:0001892	Abnormal bleeding	5568	PRKACG	OMIM:616176
HP:0001892	Abnormal bleeding	2162	F13A1	OMIM:613225
HP:0001892	Abnormal bleeding	2160	F11	OMIM:612416
HP:0001892	Abnormal bleeding	2160	F11	ORPHA:329
HP:0001892	Abnormal bleeding	2542	SLC37A4	ORPHA:79259
HP:0001892	Abnormal bleeding	23218	NBEAL2	OMIM:139090
HP:0001892	Abnormal bleeding	23218	NBEAL2	ORPHA:721
HP:0001892	Abnormal bleeding	8029	CUBN	ORPHA:35858
HP:0001892	Abnormal bleeding	81693	AMN	ORPHA:35858
HP:0001892	Abnormal bleeding	2161	F12	ORPHA:330
HP:0001892	Abnormal bleeding	6609	SMPD1	ORPHA:77293
HP:0001892	Abnormal bleeding	196527	ANO6	OMIM:262890
HP:0001892	Abnormal bleeding	6208	RPS14	ORPHA:86841
HP:0001892	Abnormal bleeding	113189	CHST14	ORPHA:2953
HP:0001892	Abnormal bleeding	29940	DSE	ORPHA:2953
HP:0001892	Abnormal bleeding	91869	RFT1	ORPHA:244310
HP:0001892	Abnormal bleeding	2165	F13B	OMIM:613235
HP:0001892	Abnormal bleeding	2538	G6PC1	OMIM:232200
HP:0001892	Abnormal bleeding	3818	KLKB1	OMIM:612423
HP:0001892	Abnormal bleeding	5921	RASA1	ORPHA:90307
HP:0001892	Abnormal bleeding	5921	RASA1	ORPHA:137667
HP:0001892	Abnormal bleeding	2147	F2	ORPHA:325
HP:0001892	Abnormal bleeding	5351	PLOD1	ORPHA:1900
HP:0001892	Abnormal bleeding	7389	UROD	ORPHA:95159
HP:0001892	Abnormal bleeding	1130	LYST	ORPHA:167
HP:0001892	Abnormal bleeding	4547	MTTP	ORPHA:14
HP:0001892	Abnormal bleeding	4627	MYH9	OMIM:155100
HP:0001892	Abnormal bleeding	1281	COL3A1	ORPHA:286
HP:0001892	Abnormal bleeding	26276	VPS33B	OMIM:208085
HP:0001892	Abnormal bleeding	546	ATRX	ORPHA:231401
HP:0001892	Abnormal bleeding	2313	FLI1	OMIM:617443
HP:0001892	Abnormal bleeding	2313	FLI1	ORPHA:370348
HP:0001892	Abnormal bleeding	57511	COG6	OMIM:614576
HP:0001892	Abnormal bleeding	5728	PTEN	ORPHA:79076
HP:0001892	Abnormal bleeding	375	ARF1	ORPHA:98892
HP:0001892	Abnormal bleeding	4131	MAP1B	ORPHA:98892
HP:0001892	Abnormal bleeding	2316	FLNA	ORPHA:98892
HP:0001892	Abnormal bleeding	23327	NEDD4L	ORPHA:98892
HP:0001892	Abnormal bleeding	160418	TMTC3	ORPHA:98892
HP:0001892	Abnormal bleeding	10564	ARFGEF2	ORPHA:98892
HP:0001892	Abnormal bleeding	55780	ERMARD	ORPHA:98892
HP:0001892	Abnormal bleeding	3674	ITGA2B	OMIM:187800
HP:0001892	Abnormal bleeding	3674	ITGA2B	ORPHA:853
HP:0001892	Abnormal bleeding	9056	SLC7A7	ORPHA:470
HP:0001892	Abnormal bleeding	2155	F7	OMIM:227500
HP:0001892	Abnormal bleeding	26585	GREM1	ORPHA:157794
HP:0001892	Abnormal bleeding	83706	FERMT3	OMIM:612840
HP:0001892	Abnormal bleeding	64805	P2RY12	OMIM:609821
HP:0001892	Abnormal bleeding	5345	SERPINF2	ORPHA:79
HP:0001892	Abnormal bleeding	4247	MGAT2	ORPHA:79329
HP:0001892	Abnormal bleeding	493856	CISD2	OMIM:604928
HP:0001892	Abnormal bleeding	89781	HPS4	OMIM:614073
HP:0001892	Abnormal bleeding	84343	HPS3	OMIM:614072
HP:0001892	Abnormal bleeding	79803	HPS6	OMIM:614075
HP:0001892	Abnormal bleeding	6786	STIM1	OMIM:185070
HP:0001892	Abnormal bleeding	2050	EPHB4	ORPHA:137667
HP:0001892	Abnormal bleeding	10165	SLC25A13	ORPHA:247598
HP:0001892	Abnormal bleeding	6714	SRC	OMIM:616937
HP:0001892	Abnormal bleeding	2683	B4GALT1	ORPHA:79332
HP:0001892	Abnormal bleeding	3673	ITGA2	ORPHA:853
HP:0001892	Abnormal bleeding	135228	CD109	ORPHA:853
HP:0001892	Abnormal bleeding	79001	VKORC1	OMIM:607473
HP:0001892	Abnormal bleeding	2623	GATA1	ORPHA:231393
HP:0001892	Abnormal bleeding	2623	GATA1	ORPHA:79277
HP:0001892	Abnormal bleeding	4351	MPI	OMIM:602579
HP:0001892	Abnormal bleeding	348	APOE	ORPHA:158029
HP:0001892	Abnormal bleeding	2153	F5	OMIM:227400
HP:0001892	Abnormal bleeding	22800	RRAS2	ORPHA:648
HP:0001892	Abnormal bleeding	867	CBL	ORPHA:648
HP:0001892	Abnormal bleeding	8216	LZTR1	ORPHA:648
HP:0001892	Abnormal bleeding	6016	RIT1	ORPHA:648
HP:0001892	Abnormal bleeding	6237	RRAS	ORPHA:648
HP:0001892	Abnormal bleeding	5894	RAF1	ORPHA:648
HP:0001892	Abnormal bleeding	22808	MRAS	ORPHA:648
HP:0001892	Abnormal bleeding	3845	KRAS	ORPHA:648
HP:0001892	Abnormal bleeding	200734	SPRED2	ORPHA:648
HP:0001892	Abnormal bleeding	4893	NRAS	ORPHA:648
HP:0001892	Abnormal bleeding	6654	SOS1	ORPHA:648
HP:0001892	Abnormal bleeding	6654	SOS1	OMIM:610733
HP:0001892	Abnormal bleeding	6655	SOS2	ORPHA:648
HP:0001892	Abnormal bleeding	5781	PTPN11	ORPHA:648
HP:0001892	Abnormal bleeding	5781	PTPN11	OMIM:163950
HP:0001892	Abnormal bleeding	5922	RASA2	ORPHA:648
HP:0001892	Abnormal bleeding	64241	ABCG8	OMIM:210250
HP:0001892	Abnormal bleeding	6774	STAT3	ORPHA:520
HP:0001892	Abnormal bleeding	5371	PML	ORPHA:520
HP:0001892	Abnormal bleeding	5914	RARA	ORPHA:520
HP:0001892	Abnormal bleeding	359948	IRF2BP2	ORPHA:520
HP:0001892	Abnormal bleeding	81608	FIP1L1	ORPHA:520
HP:0001892	Abnormal bleeding	4869	NPM1	ORPHA:520
HP:0001892	Abnormal bleeding	5573	PRKAR1A	ORPHA:520
HP:0001892	Abnormal bleeding	54880	BCOR	ORPHA:520
HP:0001892	Abnormal bleeding	64859	NABP1	ORPHA:520
HP:0001892	Abnormal bleeding	6777	STAT5B	ORPHA:520
HP:0001892	Abnormal bleeding	4926	NUMA1	ORPHA:520
HP:0001892	Abnormal bleeding	7704	ZBTB16	ORPHA:520
HP:0001892	Abnormal bleeding	79718	TBL1XR1	ORPHA:520
HP:0001892	Abnormal bleeding	81570	CLPB	OMIM:616271
HP:0001892	Abnormal bleeding	7046	TGFBR1	ORPHA:60030
HP:0001892	Abnormal bleeding	10526	IPO8	ORPHA:60030
HP:0001892	Abnormal bleeding	7048	TGFBR2	ORPHA:60030
HP:0001892	Abnormal bleeding	7450	VWF	OMIM:277480
HP:0001892	Abnormal bleeding	5054	SERPINE1	OMIM:613329
HP:0001892	Abnormal bleeding	7390	UROS	ORPHA:79277
HP:0001892	Abnormal bleeding	5604	MAP2K1	OMIM:163950
HP:0001892	Abnormal bleeding	673	BRAF	OMIM:163950
HP:0001892	Abnormal bleeding	8328	GFI1B	OMIM:187900
HP:0001892	Abnormal bleeding	875	CBS	ORPHA:394
HP:0001892	Abnormal bleeding	9213	XPR1	ORPHA:1980
HP:0001892	Abnormal bleeding	5159	PDGFRB	ORPHA:1980
HP:0001892	Abnormal bleeding	57462	MYORG	ORPHA:1980
HP:0001892	Abnormal bleeding	6575	SLC20A2	ORPHA:1980
HP:0001892	Abnormal bleeding	58494	JAM2	ORPHA:1980
HP:0001892	Abnormal bleeding	151188	ARL6IP6	ORPHA:1556
HP:0001892	Abnormal bleeding	94	ACVRL1	OMIM:600376
HP:0001892	Abnormal bleeding	94	ACVRL1	ORPHA:774
HP:0001892	Abnormal bleeding	2658	GDF2	ORPHA:774
HP:0001892	Abnormal bleeding	2548	GAA	OMIM:232300
HP:0001892	Abnormal bleeding	4088	SMAD3	OMIM:613795
HP:0001892	Abnormal bleeding	4088	SMAD3	ORPHA:91387
HP:0001892	Abnormal bleeding	351	APP	OMIM:605714
HP:0001892	Abnormal bleeding	81704	DOCK8	OMIM:243700
HP:0001892	Abnormal bleeding	55901	THSD1	OMIM:618734
HP:0001892	Abnormal bleeding	55901	THSD1	ORPHA:231160
HP:0001892	Abnormal bleeding	4629	MYH11	ORPHA:91387
HP:0001892	Abnormal bleeding	4015	LOX	ORPHA:91387
HP:0001892	Abnormal bleeding	4087	SMAD2	ORPHA:91387
HP:0001892	Abnormal bleeding	7043	TGFB3	ORPHA:91387
HP:0001892	Abnormal bleeding	7042	TGFB2	ORPHA:91387
HP:0001892	Abnormal bleeding	2200	FBN1	ORPHA:91387
HP:0001892	Abnormal bleeding	59	ACTA2	ORPHA:91387
HP:0001892	Abnormal bleeding	5592	PRKG1	ORPHA:91387
HP:0001892	Abnormal bleeding	2301	FOXE3	ORPHA:91387
HP:0001892	Abnormal bleeding	4144	MAT2A	ORPHA:91387
HP:0001892	Abnormal bleeding	23493	HEY2	ORPHA:91387
HP:0001892	Abnormal bleeding	8076	MFAP5	ORPHA:91387
HP:0001892	Abnormal bleeding	4638	MYLK	ORPHA:91387
HP:0001892	Abnormal bleeding	2006	ELN	ORPHA:91387
HP:0001892	Abnormal bleeding	7049	TGFBR3	ORPHA:231160
HP:0001892	Abnormal bleeding	83854	ANGPTL6	ORPHA:231160
HP:0001892	Abnormal bleeding	1798	DPAGT1	ORPHA:86309
HP:0001892	Abnormal bleeding	65062	TMEM237	OMIM:614424
HP:0001892	Abnormal bleeding	4000	LMNA	ORPHA:740
HP:0001892	Abnormal bleeding	4000	LMNA	ORPHA:363618
HP:0001892	Abnormal bleeding	10269	ZMPSTE24	ORPHA:740
HP:0001892	Abnormal bleeding	249	ALPL	OMIM:241500
HP:0001892	Abnormal bleeding	1584	CYP11B1	ORPHA:90795
HP:0001892	Abnormal bleeding	1584	CYP11B1	ORPHA:403
HP:0001892	Abnormal bleeding	5373	PMM2	ORPHA:79318
HP:0001892	Abnormal bleeding	1284	COL4A2	OMIM:614483
HP:0001892	Abnormal bleeding	340665	CYP26C1	ORPHA:398189
HP:0001892	Abnormal bleeding	1181	CLCN2	ORPHA:404
HP:0001892	Abnormal bleeding	1585	CYP11B2	ORPHA:403
HP:0001892	Abnormal bleeding	776	CACNA1D	ORPHA:369929
HP:0001892	Abnormal bleeding	25942	SIN3A	OMIM:613406
HP:0001892	Abnormal bleeding	3762	KCNJ5	ORPHA:251274
HP:0001892	Abnormal bleeding	171023	ASXL1	ORPHA:98850
HP:0001892	Abnormal bleeding	6427	SRSF2	ORPHA:98850
HP:0001892	Abnormal bleeding	229	ALDOB	OMIM:229600
HP:0001892	Abnormal bleeding	4072	EPCAM	ORPHA:144
HP:0001892	Abnormal bleeding	4292	MLH1	ORPHA:144
HP:0001892	Abnormal bleeding	5395	PMS2	ORPHA:144
HP:0001892	Abnormal bleeding	27030	MLH3	ORPHA:144
HP:0001892	Abnormal bleeding	22909	FAN1	ORPHA:144
HP:0001892	Abnormal bleeding	2956	MSH6	ORPHA:144
HP:0001892	Abnormal bleeding	5378	PMS1	ORPHA:144
HP:0001892	Abnormal bleeding	4436	MSH2	ORPHA:144
HP:0001892	Abnormal bleeding	4609	MYC	ORPHA:543
HP:0001892	Abnormal bleeding	64218	SEMA4A	ORPHA:440437
HP:0001892	Abnormal bleeding	6224	RPS20	ORPHA:440437
HP:0001892	Abnormal bleeding	7248	TSC1	ORPHA:538
HP:0001892	Abnormal bleeding	7249	TSC2	ORPHA:538
HP:0001892	Abnormal bleeding	3106	HLA-B	ORPHA:36426
HP:0001892	Abnormal bleeding	3106	HLA-B	ORPHA:117
HP:0001892	Abnormal bleeding	10320	IKZF1	ORPHA:36426
HP:0001892	Abnormal bleeding	3930	LBR	OMIM:613471
HP:0001892	Abnormal bleeding	3248	HPGD	ORPHA:2796
HP:0001892	Abnormal bleeding	6578	SLCO2A1	ORPHA:2796
HP:0001892	Abnormal bleeding	22827	PUF60	ORPHA:508488
HP:0001892	Abnormal bleeding	7466	WFS1	ORPHA:3463
HP:0001892	Abnormal bleeding	79991	STN1	OMIM:617341
HP:0001892	Abnormal bleeding	11231	SEC63	ORPHA:2924
HP:0001892	Abnormal bleeding	5589	PRKCSH	ORPHA:2924
HP:0001892	Abnormal bleeding	3662	IRF4	ORPHA:3452
HP:0001892	Abnormal bleeding	3516	RBPJ	ORPHA:974
HP:0001892	Abnormal bleeding	4851	NOTCH1	ORPHA:974
HP:0001892	Abnormal bleeding	57514	ARHGAP31	ORPHA:974
HP:0001892	Abnormal bleeding	57572	DOCK6	ORPHA:974
HP:0001892	Abnormal bleeding	285203	EOGT	ORPHA:974
HP:0001892	Abnormal bleeding	199221	DZIP1L	ORPHA:731
HP:0001892	Abnormal bleeding	5314	PKHD1	ORPHA:731
HP:0001892	Abnormal bleeding	5156	PDGFRA	ORPHA:44890
HP:0001892	Abnormal bleeding	3815	KIT	ORPHA:44890
HP:0001892	Abnormal bleeding	79651	RHBDF2	ORPHA:2198
HP:0001892	Abnormal bleeding	2184	FAH	OMIM:276700
HP:0001892	Abnormal bleeding	149233	IL23R	ORPHA:117
HP:0001892	Abnormal bleeding	6775	STAT4	ORPHA:117
HP:0001892	Abnormal bleeding	3586	IL10	ORPHA:117
HP:0001892	Abnormal bleeding	4210	MEFV	ORPHA:117
HP:0001892	Abnormal bleeding	1230	CCR1	ORPHA:117
HP:0001892	Abnormal bleeding	3592	IL12A	ORPHA:117
HP:0001892	Abnormal bleeding	101928376	IL12A-AS1	ORPHA:117
HP:0001892	Abnormal bleeding	7099	TLR4	ORPHA:117
HP:0001892	Abnormal bleeding	3459	IFNGR1	ORPHA:117
HP:0001892	Abnormal bleeding	337867	UBAC2	ORPHA:117
HP:0001892	Abnormal bleeding	51752	ERAP1	ORPHA:117
HP:0001892	Abnormal bleeding	8302	KLRC4	ORPHA:117
HP:0001892	Abnormal bleeding	9968	MED12	OMIM:301068
HP:0001892	Abnormal bleeding	6720	SREBF1	OMIM:158310
HP:0001892	Abnormal bleeding	4221	MEN1	ORPHA:652
HP:0001892	Abnormal bleeding	1027	CDKN1B	ORPHA:652
HP:0001892	Abnormal bleeding	1026	CDKN1A	ORPHA:652
HP:0001892	Abnormal bleeding	1030	CDKN2B	ORPHA:652
HP:0001892	Abnormal bleeding	1031	CDKN2C	ORPHA:652
HP:0001892	Abnormal bleeding	1616	DAXX	ORPHA:100075
HP:0001892	Abnormal bleeding	83483	PLVAP	OMIM:618183
HP:0001892	Abnormal bleeding	57551	TAOK1	OMIM:619575
HP:0001892	Abnormal bleeding	57217	TTC7A	OMIM:243150
HP:0001892	Abnormal bleeding	10616	RBCK1	OMIM:615895
HP:0001892	Abnormal bleeding	9420	CYP7B1	OMIM:613812
HP:0001892	Abnormal bleeding	23600	AMACR	OMIM:214950
HP:0001892	Abnormal bleeding	23600	AMACR	ORPHA:79095
HP:0001892	Abnormal bleeding	64135	IFIH1	OMIM:615846
HP:0001892	Abnormal bleeding	3587	IL10RA	OMIM:613148
HP:0001892	Abnormal bleeding	324	APC	ORPHA:261584
HP:0001892	Abnormal bleeding	80169	CTC1	OMIM:612199
HP:0001892	Abnormal bleeding	7010	TEK	ORPHA:1059
HP:0001892	Abnormal bleeding	7010	TEK	OMIM:600195
HP:0001892	Abnormal bleeding	6794	STK11	OMIM:175200
HP:0001892	Abnormal bleeding	745	MYRF	OMIM:618280
HP:0001892	Abnormal bleeding	54453	RIN2	OMIM:613075
HP:0001892	Abnormal bleeding	3257	HPS1	OMIM:203300
HP:0001892	Abnormal bleeding	90993	CREB3L1	OMIM:616229
HP:0001892	Abnormal bleeding	55109	AGGF1	ORPHA:90308
HP:0001892	Abnormal bleeding	9719	ADAMTSL2	ORPHA:1901
HP:0001892	Abnormal bleeding	9509	ADAMTS2	ORPHA:1901
HP:0001892	Abnormal bleeding	8546	AP3B1	OMIM:608233
HP:0001892	Abnormal bleeding	2624	GATA2	ORPHA:3226
HP:0001892	Abnormal bleeding	1277	COL1A1	ORPHA:287
HP:0001892	Abnormal bleeding	1289	COL5A1	ORPHA:287
HP:0001892	Abnormal bleeding	1290	COL5A2	ORPHA:287
HP:0001892	Abnormal bleeding	861	RUNX1	OMIM:601399
HP:0001892	Abnormal bleeding	9790	BMS1	ORPHA:1114
HP:0001892	Abnormal bleeding	5339	PLEC	ORPHA:1114
HP:0001892	Abnormal bleeding	10054	UBA2	ORPHA:1114
HP:0001892	Abnormal bleeding	3691	ITGB4	ORPHA:1114
HP:0001892	Abnormal bleeding	54567	DLL4	ORPHA:1114
HP:0001892	Abnormal bleeding	7157	TP53	ORPHA:3318
HP:0001892	Abnormal bleeding	5605	MAP2K2	ORPHA:638
HP:0001892	Abnormal bleeding	7454	WAS	OMIM:313900
HP:0001892	Abnormal bleeding	1376	CPT2	OMIM:608836
HP:0001892	Abnormal bleeding	54820	NDE1	ORPHA:2177
HP:0001892	Abnormal bleeding	538	ATP7A	ORPHA:565
HP:0001892	Abnormal bleeding	84342	COG8	ORPHA:95428
HP:0001892	Abnormal bleeding	8322	FZD4	OMIM:133780
HP:0001892	Abnormal bleeding	8322	FZD4	ORPHA:891
HP:0001892	Abnormal bleeding	8322	FZD4	ORPHA:90050
HP:0001892	Abnormal bleeding	4041	LRP5	OMIM:133780
HP:0001892	Abnormal bleeding	4041	LRP5	ORPHA:891
HP:0001892	Abnormal bleeding	4041	LRP5	ORPHA:90050
HP:0001892	Abnormal bleeding	4041	LRP5	OMIM:601813
HP:0001892	Abnormal bleeding	4693	NDP	ORPHA:891
HP:0001892	Abnormal bleeding	4693	NDP	ORPHA:90050
HP:0001892	Abnormal bleeding	1499	CTNNB1	ORPHA:891
HP:0001892	Abnormal bleeding	23554	TSPAN12	ORPHA:891
HP:0001892	Abnormal bleeding	79797	ZNF408	ORPHA:891
HP:0001892	Abnormal bleeding	726	CAPN5	OMIM:193235
HP:0001892	Abnormal bleeding	7439	BEST1	OMIM:193220
HP:0001892	Abnormal bleeding	5624	PROC	OMIM:612304
HP:0001892	Abnormal bleeding	6247	RS1	OMIM:312700
HP:0001892	Abnormal bleeding	5925	RB1	OMIM:180200
HP:0001892	Abnormal bleeding	57105	CYSLTR2	ORPHA:39044
HP:0001892	Abnormal bleeding	2776	GNAQ	ORPHA:39044
HP:0001892	Abnormal bleeding	2767	GNA11	ORPHA:39044
HP:0001892	Abnormal bleeding	23137	SMC5	OMIM:620185
HP:0001892	Abnormal bleeding	3712	IVD	OMIM:243500
HP:0001892	Abnormal bleeding	28976	ACAD9	ORPHA:99901
HP:0001892	Abnormal bleeding	4594	MMUT	OMIM:251000
HP:0001892	Abnormal bleeding	5095	PCCA	OMIM:606054
HP:0001892	Abnormal bleeding	5096	PCCB	OMIM:606054
HP:0001892	Abnormal bleeding	220202	ATOH7	ORPHA:91495
HP:0001892	Abnormal bleeding	9839	ZEB2	ORPHA:261552
HP:0001892	Abnormal bleeding	5903	RANBP2	ORPHA:88619
HP:0001892	Abnormal bleeding	200931	SLC51A	OMIM:619484
HP:0001892	Abnormal bleeding	3848	KRT1	ORPHA:79503
HP:0001892	Abnormal bleeding	64376	IKZF5	OMIM:619130
HP:0001892	Abnormal bleeding	10095	ARPC1B	OMIM:617718
HP:0001892	Abnormal bleeding	9578	CDC42BPB	OMIM:619841
HP:0001892	Abnormal bleeding	23545	ATP6V0A2	ORPHA:357074
HP:0001892	Abnormal bleeding	523	ATP6V1A	ORPHA:357074
HP:0001892	Abnormal bleeding	529	ATP6V1E1	ORPHA:357074
HP:0001892	Abnormal bleeding	58484	NLRC4	OMIM:616050
HP:0001892	Abnormal bleeding	440275	EIF2AK4	ORPHA:199241
HP:0001892	Abnormal bleeding	3162	HMOX1	OMIM:614034
HP:0001892	Abnormal bleeding	2202	EFEMP1	ORPHA:75376
HP:0001892	Abnormal bleeding	83872	HMCN1	OMIM:603075
HP:0001892	Abnormal bleeding	3078	CFHR1	OMIM:603075
HP:0001892	Abnormal bleeding	10878	CFHR3	OMIM:603075
HP:0001892	Abnormal bleeding	9939	RBM8A	OMIM:274000
HP:0001892	Abnormal bleeding	90411	MCFD2	ORPHA:35909
HP:0001892	Abnormal bleeding	2048	EPHB2	OMIM:618462
HP:0001892	Abnormal bleeding	388552	BLOC1S3	OMIM:614077
HP:0001892	Abnormal bleeding	9493	KIF23	ORPHA:98870
HP:0001892	Abnormal bleeding	29127	RACGAP1	ORPHA:98870
HP:0001892	Abnormal bleeding	2159	F10	ORPHA:328
HP:0001892	Abnormal bleeding	4774	NFIA	ORPHA:401986
HP:0001892	Abnormal bleeding	55788	LMBRD1	ORPHA:79284
HP:0001892	Abnormal bleeding	284058	KANSL1	ORPHA:363965
HP:0001892	Abnormal bleeding	284058	KANSL1	ORPHA:363958
HP:0001892	Abnormal bleeding	6678	SPARC	OMIM:616507
HP:0001892	Abnormal bleeding	165918	RNF168	ORPHA:420741
HP:0001892	Abnormal bleeding	100131801	PET100	OMIM:619055
HP:0001892	Abnormal bleeding	92935	MARS2	OMIM:616430
HP:0001892	Abnormal bleeding	84196	USP48	ORPHA:96253
HP:0001892	Abnormal bleeding	9101	USP8	ORPHA:96253
HP:0001892	Abnormal bleeding	9101	USP8	OMIM:219090
HP:0001892	Abnormal bleeding	64072	CDH23	ORPHA:96253
HP:0001892	Abnormal bleeding	2908	NR3C1	ORPHA:96253
HP:0001892	Abnormal bleeding	6915	TBXA2R	OMIM:614009
HP:0001892	Abnormal bleeding	9049	AIP	OMIM:219090
HP:0001892	Abnormal bleeding	1725	DHPS	OMIM:618480
HP:0001892	Abnormal bleeding	1314	COPA	OMIM:616414
HP:0001892	Abnormal bleeding	10664	CTCF	ORPHA:363611
HP:0001892	Abnormal bleeding	57169	ZNFX1	OMIM:619644
HP:0001892	Abnormal bleeding	3431	SP110	ORPHA:79124
HP:0001892	Abnormal bleeding	23299	BICD2	OMIM:618291
HP:0001892	Abnormal bleeding	25974	MMACHC	ORPHA:79282
HP:0001892	Abnormal bleeding	3703	STT3A	OMIM:619714
HP:0001892	Abnormal bleeding	8241	RBM10	OMIM:311900
HP:0008182	Adrenocortical hypoplasia	2710	GK	OMIM:307030
HP:0008185	Precocious puberty in males	3973	LHCGR	OMIM:176410
HP:0008185	Precocious puberty in males	1584	CYP11B1	OMIM:202010
HP:0008187	Absence of secondary sex characteristics	2099	ESR1	ORPHA:785
HP:0008187	Absence of secondary sex characteristics	2260	FGFR1	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	81848	SPRY4	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	128674	PROKR2	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	2253	FGF8	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	60675	PROK2	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	55636	CHD7	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	6870	TACR3	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	1848	DUSP6	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	26012	NSMF	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	55717	WDR11	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	9394	HS6ST1	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	2796	GNRH1	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	2798	GNRHR	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	84634	KISS1R	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	6866	TAC3	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	8822	FGF17	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	3814	KISS1	ORPHA:432
HP:0008187	Absence of secondary sex characteristics	1583	CYP11A1	ORPHA:289548
HP:0008187	Absence of secondary sex characteristics	1583	CYP11A1	ORPHA:168558
HP:0008187	Absence of secondary sex characteristics	5626	PROP1	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	5626	PROP1	ORPHA:90695
HP:0008187	Absence of secondary sex characteristics	2736	GLI2	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	89884	LHX4	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	3170	FOXA2	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	5449	POU1F1	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	8820	HESX1	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	5015	OTX2	ORPHA:95494
HP:0008187	Absence of secondary sex characteristics	1528	CYB5A	ORPHA:90796
HP:0008187	Absence of secondary sex characteristics	1586	CYP17A1	ORPHA:90796
HP:0008187	Absence of secondary sex characteristics	1586	CYP17A1	ORPHA:90793
HP:0008187	Absence of secondary sex characteristics	3953	LEPR	ORPHA:179494
HP:0008187	Absence of secondary sex characteristics	6662	SOX9	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	6845	VAMP7	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	51741	WWOX	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	4214	MAP3K1	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	2516	NR5A1	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	7490	WT1	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	58524	DMRT3	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	57647	DHX37	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	6736	SRY	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	6736	SRY	OMIM:400044
HP:0008187	Absence of secondary sex characteristics	23414	ZFPM2	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	190	NR0B1	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	2626	GATA4	ORPHA:251510
HP:0008187	Absence of secondary sex characteristics	3952	LEP	ORPHA:66628
HP:0008187	Absence of secondary sex characteristics	5422	POLA1	ORPHA:163976
HP:0008187	Absence of secondary sex characteristics	6658	SOX3	ORPHA:90695
HP:0008186	Adrenocortical cytomegaly	1028	CDKN1C	OMIM:130650
HP:0008186	Adrenocortical cytomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0008186	Adrenocortical cytomegaly	3481	IGF2	OMIM:130650
HP:0008186	Adrenocortical cytomegaly	3784	KCNQ1	OMIM:130650
HP:0008189	Insulin insensitivity	367	AR	ORPHA:90797
HP:0008189	Insulin insensitivity	3483	IGFALS	OMIM:615961
HP:0008189	Insulin insensitivity	7555	CNBP	OMIM:602668
HP:0008188	Thyroid dysgenesis	7080	NKX2-1	ORPHA:209905
HP:0008188	Thyroid dysgenesis	2737	GLI3	OMIM:146510
HP:0008188	Thyroid dysgenesis	3977	LIFR	ORPHA:3206
HP:0008188	Thyroid dysgenesis	1482	NKX2-5	OMIM:225250
HP:0008188	Thyroid dysgenesis	1482	NKX2-5	ORPHA:95712
HP:0008188	Thyroid dysgenesis	7849	PAX8	OMIM:218700
HP:0008188	Thyroid dysgenesis	7849	PAX8	ORPHA:95712
HP:0008188	Thyroid dysgenesis	23522	KAT6B	ORPHA:3047
HP:0034040	Bidirectional ventricular tachycardia	6262	RYR2	OMIM:604772
HP:0034040	Bidirectional ventricular tachycardia	845	CASQ2	OMIM:604772
HP:0034040	Bidirectional ventricular tachycardia	10345	TRDN	OMIM:604772
HP:0034040	Bidirectional ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0034041	Ventricular ectopy	6262	RYR2	OMIM:604772
HP:0034041	Ventricular ectopy	845	CASQ2	OMIM:604772
HP:0034041	Ventricular ectopy	10345	TRDN	OMIM:604772
HP:0034041	Ventricular ectopy	805	CALM2	OMIM:616249
HP:0034042	Dorsal hirsutism	6134	RPL10	OMIM:300998
HP:0034042	Dorsal hirsutism	23325	WASHC4	OMIM:615817
HP:0034043	Increased fecal bile acid	6555	SLC10A2	OMIM:613291
HP:0034044	Trident pelvis	26123	TCTN3	OMIM:614815
HP:0034044	Trident pelvis	9851	KIAA0753	OMIM:619479
HP:0034045	Angulated muscle fibers	311	ANXA11	OMIM:619733
HP:0034045	Angulated muscle fibers	6606	SMN1	OMIM:271150
HP:0034045	Angulated muscle fibers	9325	TRIP4	OMIM:617066
HP:0034045	Angulated muscle fibers	55791	LRIF1	OMIM:619477
HP:0034045	Angulated muscle fibers	54332	GDAP1	OMIM:608340
HP:0034046	Mandibular osteolysis	8815	BANF1	OMIM:614008
HP:0034047	Rib osteolysis	8815	BANF1	OMIM:614008
HP:0034048	Decreased circulating chenodeoxycholic acid concentration	123264	SLC51B	OMIM:619481
HP:0034049	Elevated urinary prostaglandin E2 level	6578	SLCO2A1	OMIM:167100
HP:0008213	Gonadotropin deficiency	2737	GLI3	ORPHA:672
HP:0008213	Gonadotropin deficiency	8022	LHX3	OMIM:221750
HP:0008213	Gonadotropin deficiency	8022	LHX3	ORPHA:231720
HP:0008213	Gonadotropin deficiency	5443	POMC	OMIM:609734
HP:0008213	Gonadotropin deficiency	5443	POMC	ORPHA:71526
HP:0008213	Gonadotropin deficiency	2488	FSHB	ORPHA:52901
HP:0008213	Gonadotropin deficiency	5122	PCSK1	ORPHA:71528
HP:0008213	Gonadotropin deficiency	2260	FGFR1	OMIM:615465
HP:0008213	Gonadotropin deficiency	55636	CHD7	OMIM:214800
HP:0008213	Gonadotropin deficiency	7080	NKX2-1	OMIM:610978
HP:0008191	Thyroid agenesis	1482	NKX2-5	OMIM:225250
HP:0008191	Thyroid agenesis	1482	NKX2-5	ORPHA:95713
HP:0008191	Thyroid agenesis	7080	NKX2-1	ORPHA:95713
HP:0008191	Thyroid agenesis	7849	PAX8	ORPHA:95713
HP:0008191	Thyroid agenesis	7849	PAX8	OMIM:218700
HP:0008191	Thyroid agenesis	2304	FOXE1	ORPHA:95713
HP:0008191	Thyroid agenesis	2304	FOXE1	OMIM:241850
HP:0008191	Thyroid agenesis	2304	FOXE1	ORPHA:1226
HP:0008191	Thyroid agenesis	7253	TSHR	ORPHA:95713
HP:0008191	Thyroid agenesis	5172	SLC26A4	ORPHA:95713
HP:0008191	Thyroid agenesis	23522	KAT6B	ORPHA:3047
HP:0008194	Multiple pancreatic beta-cell adenomas	389692	MAFA	OMIM:147630
HP:0008194	Multiple pancreatic beta-cell adenomas	3767	KCNJ11	ORPHA:79644
HP:0008193	Primary gonadal insufficiency	1967	EIF2B1	OMIM:603896
HP:0008193	Primary gonadal insufficiency	7466	WFS1	ORPHA:411590
HP:0008193	Primary gonadal insufficiency	1528	CYB5A	ORPHA:90796
HP:0008193	Primary gonadal insufficiency	1586	CYP17A1	ORPHA:90796
HP:0008193	Primary gonadal insufficiency	6662	SOX9	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	6845	VAMP7	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	51741	WWOX	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	4214	MAP3K1	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	2516	NR5A1	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	7490	WT1	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	58524	DMRT3	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	57647	DHX37	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	6736	SRY	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	23414	ZFPM2	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	190	NR0B1	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	2626	GATA4	ORPHA:251510
HP:0008193	Primary gonadal insufficiency	286053	NSMCE2	ORPHA:436182
HP:0008193	Primary gonadal insufficiency	7518	XRCC4	ORPHA:436182
HP:0008256	Adrenocortical adenoma	6329	SCN4A	ORPHA:681
HP:0008256	Adrenocortical adenoma	779	CACNA1S	ORPHA:681
HP:0008256	Adrenocortical adenoma	10008	KCNE3	ORPHA:681
HP:0008256	Adrenocortical adenoma	4221	MEN1	OMIM:131100
HP:0008256	Adrenocortical adenoma	324	APC	OMIM:175100
HP:0008256	Adrenocortical adenoma	324	APC	ORPHA:247806
HP:0008256	Adrenocortical adenoma	324	APC	ORPHA:79665
HP:0008256	Adrenocortical adenoma	1027	CDKN1B	ORPHA:276152
HP:0008256	Adrenocortical adenoma	1181	CLCN2	ORPHA:404
HP:0008256	Adrenocortical adenoma	1584	CYP11B1	ORPHA:403
HP:0008256	Adrenocortical adenoma	1585	CYP11B2	ORPHA:403
HP:0000824	Decreased response to growth hormone stimulation test	7528	YY1	ORPHA:506358
HP:0000824	Decreased response to growth hormone stimulation test	4791	NFKB2	ORPHA:293978
HP:0000824	Decreased response to growth hormone stimulation test	4791	NFKB2	OMIM:615577
HP:0000824	Decreased response to growth hormone stimulation test	6909	TBX2	OMIM:618223
HP:0000824	Decreased response to growth hormone stimulation test	1859	DYRK1A	ORPHA:268261
HP:0000824	Decreased response to growth hormone stimulation test	5122	PCSK1	ORPHA:71528
HP:0000824	Decreased response to growth hormone stimulation test	23394	ADNP	OMIM:615873
HP:0000824	Decreased response to growth hormone stimulation test	10785	WDR4	OMIM:618347
HP:0000824	Decreased response to growth hormone stimulation test	5443	POMC	ORPHA:71526
HP:0000824	Decreased response to growth hormone stimulation test	5443	POMC	OMIM:609734
HP:0000824	Decreased response to growth hormone stimulation test	22800	RRAS2	OMIM:618624
HP:0000824	Decreased response to growth hormone stimulation test	2778	GNAS	ORPHA:94089
HP:0000824	Decreased response to growth hormone stimulation test	2778	GNAS	ORPHA:79443
HP:0000824	Decreased response to growth hormone stimulation test	2778	GNAS	ORPHA:79444
HP:0000824	Decreased response to growth hormone stimulation test	8675	STX16	ORPHA:94089
HP:0000824	Decreased response to growth hormone stimulation test	8626	TP63	OMIM:604292
HP:0000824	Decreased response to growth hormone stimulation test	8626	TP63	ORPHA:1896
HP:0000824	Decreased response to growth hormone stimulation test	7681	MKRN3	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	3653	IPW	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	54551	MAGEL2	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	54551	MAGEL2	ORPHA:177904
HP:0000824	Decreased response to growth hormone stimulation test	54551	MAGEL2	ORPHA:177901
HP:0000824	Decreased response to growth hormone stimulation test	54551	MAGEL2	ORPHA:98754
HP:0000824	Decreased response to growth hormone stimulation test	791114	PWRN1	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	100033413	SNORD116-1	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	8924	HERC2	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	145624	PWAR1	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	23742	NPAP1	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	338433	SNORD115-1	OMIM:176270
HP:0000824	Decreased response to growth hormone stimulation test	91147	TMEM67	OMIM:602152
HP:0000824	Decreased response to growth hormone stimulation test	27125	AFF4	ORPHA:444077
HP:0000824	Decreased response to growth hormone stimulation test	55315	SLC29A3	OMIM:602782
HP:0000824	Decreased response to growth hormone stimulation test	7707	ZNF148	OMIM:617260
HP:0000824	Decreased response to growth hormone stimulation test	6658	SOX3	OMIM:300123
HP:0000824	Decreased response to growth hormone stimulation test	6658	SOX3	ORPHA:67045
HP:0000824	Decreased response to growth hormone stimulation test	6658	SOX3	ORPHA:90695
HP:0000824	Decreased response to growth hormone stimulation test	55159	RFWD3	OMIM:617784
HP:0000824	Decreased response to growth hormone stimulation test	113179	ADAT3	ORPHA:363528
HP:0000824	Decreased response to growth hormone stimulation test	113179	ADAT3	OMIM:615286
HP:0000824	Decreased response to growth hormone stimulation test	55215	FANCI	OMIM:609053
HP:0000824	Decreased response to growth hormone stimulation test	9915	ARNT2	OMIM:615926
HP:0000824	Decreased response to growth hormone stimulation test	10908	PNPLA6	OMIM:275400
HP:0000824	Decreased response to growth hormone stimulation test	2693	GHSR	OMIM:615925
HP:0000824	Decreased response to growth hormone stimulation test	134218	DNAJC21	ORPHA:811
HP:0000824	Decreased response to growth hormone stimulation test	79631	EFL1	ORPHA:811
HP:0000824	Decreased response to growth hormone stimulation test	51119	SBDS	ORPHA:811
HP:0000824	Decreased response to growth hormone stimulation test	6729	SRP54	ORPHA:811
HP:0000824	Decreased response to growth hormone stimulation test	2188	FANCF	OMIM:603467
HP:0000824	Decreased response to growth hormone stimulation test	6638	SNRPN	ORPHA:177904
HP:0000824	Decreased response to growth hormone stimulation test	6638	SNRPN	ORPHA:177901
HP:0000824	Decreased response to growth hormone stimulation test	6638	SNRPN	ORPHA:177907
HP:0000824	Decreased response to growth hormone stimulation test	6638	SNRPN	ORPHA:98754
HP:0000824	Decreased response to growth hormone stimulation test	4692	NDN	ORPHA:177904
HP:0000824	Decreased response to growth hormone stimulation test	4692	NDN	ORPHA:177901
HP:0000824	Decreased response to growth hormone stimulation test	4692	NDN	ORPHA:98754
HP:0000824	Decreased response to growth hormone stimulation test	4948	OCA2	ORPHA:177904
HP:0000824	Decreased response to growth hormone stimulation test	4948	OCA2	ORPHA:177901
HP:0000824	Decreased response to growth hormone stimulation test	4948	OCA2	ORPHA:98754
HP:0000824	Decreased response to growth hormone stimulation test	6777	STAT5B	OMIM:245590
HP:0000824	Decreased response to growth hormone stimulation test	284058	KANSL1	ORPHA:363958
HP:0000824	Decreased response to growth hormone stimulation test	284058	KANSL1	ORPHA:363965
HP:0000824	Decreased response to growth hormone stimulation test	2688	GH1	OMIM:612781
HP:0000824	Decreased response to growth hormone stimulation test	2688	GH1	OMIM:173100
HP:0000824	Decreased response to growth hormone stimulation test	9581	PREPL	OMIM:616224
HP:0000824	Decreased response to growth hormone stimulation test	55699	IARS2	ORPHA:436174
HP:0000824	Decreased response to growth hormone stimulation test	55699	IARS2	OMIM:616007
HP:0000824	Decreased response to growth hormone stimulation test	3953	LEPR	OMIM:614963
HP:0000824	Decreased response to growth hormone stimulation test	2917	GRM7	OMIM:618922
HP:0000824	Decreased response to growth hormone stimulation test	79184	BRCC3	ORPHA:280679
HP:0000824	Decreased response to growth hormone stimulation test	5308	PITX2	OMIM:180500
HP:0000824	Decreased response to growth hormone stimulation test	7840	ALMS1	OMIM:203800
HP:0000824	Decreased response to growth hormone stimulation test	7840	ALMS1	ORPHA:64
HP:0000824	Decreased response to growth hormone stimulation test	3481	IGF2	OMIM:180860
HP:0000824	Decreased response to growth hormone stimulation test	157680	VPS13B	OMIM:216550
HP:0000824	Decreased response to growth hormone stimulation test	25942	SIN3A	ORPHA:94065
HP:0000824	Decreased response to growth hormone stimulation test	25942	SIN3A	OMIM:613406
HP:0000824	Decreased response to growth hormone stimulation test	5718	PSMD12	ORPHA:529962
HP:0000824	Decreased response to growth hormone stimulation test	2186	BPTF	ORPHA:529962
HP:0000824	Decreased response to growth hormone stimulation test	4297	KMT2A	ORPHA:319182
HP:0000824	Decreased response to growth hormone stimulation test	93627	TBCK	ORPHA:488632
HP:0000824	Decreased response to growth hormone stimulation test	28514	DLL1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	28514	DLL1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	28514	DLL1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	28514	DLL1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	2253	FGF8	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	2253	FGF8	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	2253	FGF8	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	2253	FGF8	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	6496	SIX3	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	6496	SIX3	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	6496	SIX3	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	6496	SIX3	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	7050	TGIF1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	7050	TGIF1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	7050	TGIF1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	7050	TGIF1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	4838	NODAL	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	4838	NODAL	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	4838	NODAL	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	4838	NODAL	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	6469	SHH	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	6469	SHH	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	6469	SHH	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	6469	SHH	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	6469	SHH	OMIM:147250
HP:0000824	Decreased response to growth hormone stimulation test	7546	ZIC2	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	7546	ZIC2	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	7546	ZIC2	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	7546	ZIC2	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	6491	STIL	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	6491	STIL	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	6491	STIL	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	6491	STIL	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	2619	GAS1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	2619	GAS1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	2619	GAS1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	2619	GAS1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	84976	DISP1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	84976	DISP1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	84976	DISP1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	84976	DISP1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	OMIM:610829
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	2736	GLI2	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	8928	FOXH1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	8928	FOXH1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	8928	FOXH1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	8928	FOXH1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	5727	PTCH1	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	5727	PTCH1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	5727	PTCH1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	5727	PTCH1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	50937	CDON	ORPHA:93926
HP:0000824	Decreased response to growth hormone stimulation test	50937	CDON	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	50937	CDON	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	50937	CDON	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	55636	CHD7	OMIM:214800
HP:0000824	Decreased response to growth hormone stimulation test	2783	GNB2	OMIM:619503
HP:0000824	Decreased response to growth hormone stimulation test	2260	FGFR1	ORPHA:93924
HP:0000824	Decreased response to growth hormone stimulation test	2260	FGFR1	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	1028	CDKN1C	OMIM:614732
HP:0000824	Decreased response to growth hormone stimulation test	23007	PLCH1	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	10735	STAG2	ORPHA:93925
HP:0000824	Decreased response to growth hormone stimulation test	10735	STAG2	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	57187	THOC2	ORPHA:457240
HP:0000824	Decreased response to growth hormone stimulation test	54	ACP5	ORPHA:1855
HP:0000824	Decreased response to growth hormone stimulation test	8820	HESX1	OMIM:182230
HP:0000824	Decreased response to growth hormone stimulation test	8820	HESX1	ORPHA:226307
HP:0000824	Decreased response to growth hormone stimulation test	8820	HESX1	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	55131	RBM28	ORPHA:157954
HP:0000824	Decreased response to growth hormone stimulation test	9056	SLC7A7	ORPHA:470
HP:0000824	Decreased response to growth hormone stimulation test	84265	POLR3GL	OMIM:619234
HP:0000824	Decreased response to growth hormone stimulation test	9851	KIAA0753	OMIM:619476
HP:0000824	Decreased response to growth hormone stimulation test	6905	TBCE	OMIM:241410
HP:0000824	Decreased response to growth hormone stimulation test	5626	PROP1	ORPHA:226307
HP:0000824	Decreased response to growth hormone stimulation test	5626	PROP1	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	5626	PROP1	ORPHA:90695
HP:0000824	Decreased response to growth hormone stimulation test	89884	LHX4	ORPHA:226307
HP:0000824	Decreased response to growth hormone stimulation test	89884	LHX4	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	8022	LHX3	ORPHA:226307
HP:0000824	Decreased response to growth hormone stimulation test	8022	LHX3	OMIM:221750
HP:0000824	Decreased response to growth hormone stimulation test	8022	LHX3	ORPHA:231720
HP:0000824	Decreased response to growth hormone stimulation test	5449	POU1F1	ORPHA:226307
HP:0000824	Decreased response to growth hormone stimulation test	5449	POU1F1	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	80067	DCAF17	ORPHA:3464
HP:0000824	Decreased response to growth hormone stimulation test	54499	TMCO1	OMIM:213980
HP:0000824	Decreased response to growth hormone stimulation test	2887	GRB10	ORPHA:96182
HP:0000824	Decreased response to growth hormone stimulation test	3170	FOXA2	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	5015	OTX2	ORPHA:95494
HP:0000824	Decreased response to growth hormone stimulation test	5605	MAP2K2	OMIM:615280
HP:0000824	Decreased response to growth hormone stimulation test	8567	MADD	OMIM:619004
HP:0000824	Decreased response to growth hormone stimulation test	2692	GHRHR	OMIM:618157
HP:0000824	Decreased response to growth hormone stimulation test	9702	CEP57	OMIM:614114
HP:0000824	Decreased response to growth hormone stimulation test	11128	POLR3A	ORPHA:3455
HP:0000824	Decreased response to growth hormone stimulation test	5456	POU3F4	ORPHA:1435
HP:0000824	Decreased response to growth hormone stimulation test	55599	RNPC3	OMIM:618160
HP:0000824	Decreased response to growth hormone stimulation test	9897	WASHC5	OMIM:220210
HP:0000824	Decreased response to growth hormone stimulation test	23247	KATNIP	OMIM:616784
HP:0000824	Decreased response to growth hormone stimulation test	8243	SMC1A	ORPHA:220386
HP:0000824	Decreased response to growth hormone stimulation test	2317	FLNB	ORPHA:1263
HP:0000824	Decreased response to growth hormone stimulation test	695	BTK	OMIM:307200
HP:0000824	Decreased response to growth hormone stimulation test	9526	MPDU1	ORPHA:79323
HP:0000824	Decreased response to growth hormone stimulation test	5573	PRKAR1A	ORPHA:280651
HP:0000824	Decreased response to growth hormone stimulation test	5144	PDE4D	ORPHA:280651
HP:0000824	Decreased response to growth hormone stimulation test	1513	CTSK	ORPHA:763
HP:0000824	Decreased response to growth hormone stimulation test	79644	SRD5A3	ORPHA:324737
HP:0000824	Decreased response to growth hormone stimulation test	1968	EIF2S3	OMIM:300148
HP:0000824	Decreased response to growth hormone stimulation test	5426	POLE	OMIM:618336
HP:0000824	Decreased response to growth hormone stimulation test	51053	GMNN	OMIM:616835
HP:0000824	Decreased response to growth hormone stimulation test	6664	SOX11	OMIM:615866
HP:0000824	Decreased response to growth hormone stimulation test	7080	NKX2-1	OMIM:610978
HP:0000824	Decreased response to growth hormone stimulation test	157570	ESCO2	OMIM:216100
HP:0000824	Decreased response to growth hormone stimulation test	64072	CDH23	ORPHA:91347
HP:0000824	Decreased response to growth hormone stimulation test	64072	CDH23	ORPHA:2965
HP:0000824	Decreased response to growth hormone stimulation test	2737	GLI3	ORPHA:672
HP:0000824	Decreased response to growth hormone stimulation test	4221	MEN1	ORPHA:2965
HP:0000824	Decreased response to growth hormone stimulation test	9049	AIP	ORPHA:2965
HP:0000824	Decreased response to growth hormone stimulation test	8314	BAP1	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	4771	NF2	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	6598	SMARCB1	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	5155	PDGFB	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	84231	TRAF7	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	6608	SMO	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	207	AKT1	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	5290	PIK3CA	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	7015	TERT	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	51684	SUFU	ORPHA:2495
HP:0000824	Decreased response to growth hormone stimulation test	6605	SMARCE1	ORPHA:2495
HP:0008198	Congenital hypoparathyroidism	6905	TBCE	ORPHA:2323
HP:0008198	Congenital hypoparathyroidism	6905	TBCE	OMIM:244460
HP:0008198	Congenital hypoparathyroidism	6905	TBCE	ORPHA:93324
HP:0008198	Congenital hypoparathyroidism	6905	TBCE	OMIM:241410
HP:0008198	Congenital hypoparathyroidism	63901	FAM111A	ORPHA:93325
HP:0008198	Congenital hypoparathyroidism	9247	GCM2	ORPHA:2239
HP:0008197	Absence of pubertal development	2099	ESR1	ORPHA:785
HP:0008197	Absence of pubertal development	2260	FGFR1	ORPHA:432
HP:0008197	Absence of pubertal development	81848	SPRY4	ORPHA:432
HP:0008197	Absence of pubertal development	128674	PROKR2	ORPHA:432
HP:0008197	Absence of pubertal development	2253	FGF8	ORPHA:432
HP:0008197	Absence of pubertal development	60675	PROK2	ORPHA:432
HP:0008197	Absence of pubertal development	60675	PROK2	OMIM:610628
HP:0008197	Absence of pubertal development	55636	CHD7	ORPHA:432
HP:0008197	Absence of pubertal development	6870	TACR3	ORPHA:432
HP:0008197	Absence of pubertal development	6870	TACR3	OMIM:614840
HP:0008197	Absence of pubertal development	1848	DUSP6	ORPHA:432
HP:0008197	Absence of pubertal development	26012	NSMF	ORPHA:432
HP:0008197	Absence of pubertal development	55717	WDR11	ORPHA:432
HP:0008197	Absence of pubertal development	9394	HS6ST1	ORPHA:432
HP:0008197	Absence of pubertal development	2796	GNRH1	ORPHA:432
HP:0008197	Absence of pubertal development	2798	GNRHR	ORPHA:432
HP:0008197	Absence of pubertal development	84634	KISS1R	ORPHA:432
HP:0008197	Absence of pubertal development	84634	KISS1R	OMIM:614837
HP:0008197	Absence of pubertal development	6866	TAC3	ORPHA:432
HP:0008197	Absence of pubertal development	8822	FGF17	ORPHA:432
HP:0008197	Absence of pubertal development	3814	KISS1	ORPHA:432
HP:0008197	Absence of pubertal development	190	NR0B1	OMIM:300200
HP:0008197	Absence of pubertal development	57122	NUP107	OMIM:618078
HP:0008197	Absence of pubertal development	54756	IL17RD	OMIM:615267
HP:0008197	Absence of pubertal development	6492	SIM1	ORPHA:398079
HP:0008197	Absence of pubertal development	54551	MAGEL2	ORPHA:398069
HP:0008197	Absence of pubertal development	4808	NHLH2	OMIM:619755
HP:0008197	Absence of pubertal development	57647	DHX37	OMIM:273250
HP:0008197	Absence of pubertal development	54476	RNF216	OMIM:212840
HP:0008197	Absence of pubertal development	79633	FAT4	ORPHA:314679
HP:0008197	Absence of pubertal development	8642	DCHS1	ORPHA:314679
HP:0008197	Absence of pubertal development	1586	CYP17A1	ORPHA:90793
HP:0008197	Absence of pubertal development	4000	LMNA	ORPHA:740
HP:0008197	Absence of pubertal development	10269	ZMPSTE24	ORPHA:740
HP:0034051	Hypoplastic anterior limbs of the internal capsule	7846	TUBA1A	ORPHA:171680
HP:0034051	Hypoplastic anterior limbs of the internal capsule	10367	MICU1	OMIM:615673
HP:0034053	Decreased acid ceramidase activity	427	ASAH1	OMIM:228000
HP:0034054	Probst bundles	4781	NFIB	OMIM:618286
HP:0034056	Increased fecal calprotectin level	50619	DEF6	OMIM:619573
HP:0034057	Fetal anomaly	10682	EBP	ORPHA:401973
HP:0034057	Fetal anomaly	3190	HNRNPK	OMIM:616580
HP:0034057	Fetal anomaly	84231	TRAF7	OMIM:618164
HP:0034057	Fetal anomaly	1947	EFNB1	ORPHA:1520
HP:0034057	Fetal anomaly	100151683	RNU4ATAC	ORPHA:2636
HP:0034057	Fetal anomaly	23556	PIGN	ORPHA:2059
HP:0034057	Fetal anomaly	7355	SLC35A2	ORPHA:356961
HP:0034057	Fetal anomaly	22800	RRAS2	ORPHA:648
HP:0034057	Fetal anomaly	867	CBL	ORPHA:648
HP:0034057	Fetal anomaly	8216	LZTR1	ORPHA:648
HP:0034057	Fetal anomaly	6016	RIT1	ORPHA:648
HP:0034057	Fetal anomaly	6237	RRAS	ORPHA:648
HP:0034057	Fetal anomaly	5894	RAF1	ORPHA:648
HP:0034057	Fetal anomaly	22808	MRAS	ORPHA:648
HP:0034057	Fetal anomaly	3845	KRAS	ORPHA:648
HP:0034057	Fetal anomaly	200734	SPRED2	ORPHA:648
HP:0034057	Fetal anomaly	4893	NRAS	ORPHA:648
HP:0034057	Fetal anomaly	6654	SOS1	ORPHA:648
HP:0034057	Fetal anomaly	6655	SOS2	ORPHA:648
HP:0034057	Fetal anomaly	5781	PTPN11	ORPHA:648
HP:0034057	Fetal anomaly	5922	RASA2	ORPHA:648
HP:0034057	Fetal anomaly	526	ATP6V1B2	ORPHA:79500
HP:0034057	Fetal anomaly	57465	TBC1D24	ORPHA:79500
HP:0034057	Fetal anomaly	57465	TBC1D24	OMIM:220500
HP:0034057	Fetal anomaly	3265	HRAS	ORPHA:3071
HP:0034057	Fetal anomaly	29968	PSAT1	ORPHA:284417
HP:0034057	Fetal anomaly	25978	CHMP2B	ORPHA:275864
HP:0034057	Fetal anomaly	25978	CHMP2B	ORPHA:100070
HP:0034057	Fetal anomaly	5663	PSEN1	ORPHA:275864
HP:0034057	Fetal anomaly	5663	PSEN1	ORPHA:100070
HP:0034057	Fetal anomaly	2896	GRN	ORPHA:275864
HP:0034057	Fetal anomaly	2896	GRN	ORPHA:100070
HP:0034057	Fetal anomaly	54664	TMEM106B	ORPHA:275864
HP:0034057	Fetal anomaly	54664	TMEM106B	ORPHA:100070
HP:0034057	Fetal anomaly	8878	SQSTM1	ORPHA:275864
HP:0034057	Fetal anomaly	4137	MAPT	ORPHA:275864
HP:0034057	Fetal anomaly	4137	MAPT	ORPHA:100070
HP:0034057	Fetal anomaly	54209	TREM2	ORPHA:275864
HP:0034057	Fetal anomaly	54209	TREM2	ORPHA:100070
HP:0034057	Fetal anomaly	7415	VCP	ORPHA:275864
HP:0034057	Fetal anomaly	7415	VCP	ORPHA:100070
HP:0034057	Fetal anomaly	55670	PEX26	ORPHA:912
HP:0034057	Fetal anomaly	5824	PEX19	ORPHA:912
HP:0034057	Fetal anomaly	8504	PEX3	ORPHA:912
HP:0034057	Fetal anomaly	8799	PEX11B	ORPHA:912
HP:0034057	Fetal anomaly	9409	PEX16	ORPHA:912
HP:0034057	Fetal anomaly	5190	PEX6	ORPHA:912
HP:0034057	Fetal anomaly	5830	PEX5	ORPHA:912
HP:0034057	Fetal anomaly	5189	PEX1	ORPHA:912
HP:0034057	Fetal anomaly	5193	PEX12	ORPHA:912
HP:0034057	Fetal anomaly	5194	PEX13	ORPHA:912
HP:0034057	Fetal anomaly	5195	PEX14	ORPHA:912
HP:0034057	Fetal anomaly	5192	PEX10	ORPHA:912
HP:0034057	Fetal anomaly	3911	LAMA5	OMIM:620076
HP:0034057	Fetal anomaly	7490	WT1	OMIM:608978
HP:0034057	Fetal anomaly	5447	POR	OMIM:201750
HP:0034057	Fetal anomaly	5977	DPF2	OMIM:618027
HP:0034057	Fetal anomaly	2627	GATA6	ORPHA:2255
HP:0034057	Fetal anomaly	2627	GATA6	OMIM:600001
HP:0034057	Fetal anomaly	91179	SCARF2	OMIM:600920
HP:0034057	Fetal anomaly	54870	QRICH1	OMIM:617982
HP:0034057	Fetal anomaly	55784	MCTP2	ORPHA:1596
HP:0034057	Fetal anomaly	55690	PACS1	OMIM:615009
HP:0034057	Fetal anomaly	55690	PACS1	ORPHA:329224
HP:0034057	Fetal anomaly	4625	MYH7	OMIM:613426
HP:0034057	Fetal anomaly	2188	FANCF	OMIM:603467
HP:0034057	Fetal anomaly	9897	WASHC5	OMIM:220210
HP:0034057	Fetal anomaly	9897	WASHC5	ORPHA:7
HP:0034057	Fetal anomaly	775	CACNA1C	OMIM:601005
HP:0034057	Fetal anomaly	84720	PIGO	ORPHA:247262
HP:0034057	Fetal anomaly	93210	PGAP3	ORPHA:247262
HP:0034057	Fetal anomaly	284098	PIGW	ORPHA:247262
HP:0034057	Fetal anomaly	55650	PIGV	ORPHA:247262
HP:0034057	Fetal anomaly	9487	PIGL	ORPHA:247262
HP:0034057	Fetal anomaly	10463	SLC30A9	OMIM:617595
HP:0034057	Fetal anomaly	7473	WNT3	OMIM:273395
HP:0034057	Fetal anomaly	3239	HOXD13	ORPHA:887
HP:0034057	Fetal anomaly	28952	CCDC22	ORPHA:7
HP:0034057	Fetal anomaly	11011	TLK2	OMIM:618050
HP:0034057	Fetal anomaly	1656	DDX6	OMIM:618653
HP:0034057	Fetal anomaly	54903	MKS1	OMIM:249000
HP:0034057	Fetal anomaly	23384	SPECC1L	OMIM:145420
HP:0034057	Fetal anomaly	5062	PAK2	OMIM:618458
HP:0034057	Fetal anomaly	23476	BRD4	ORPHA:199
HP:0034057	Fetal anomaly	9126	SMC3	ORPHA:199
HP:0034057	Fetal anomaly	8243	SMC1A	ORPHA:199
HP:0034057	Fetal anomaly	25836	NIPBL	ORPHA:199
HP:0034057	Fetal anomaly	55869	HDAC8	ORPHA:199
HP:0034057	Fetal anomaly	5885	RAD21	ORPHA:199
HP:0034057	Fetal anomaly	259232	NALCN	ORPHA:2053
HP:0034057	Fetal anomaly	58	ACTA1	ORPHA:97240
HP:0034057	Fetal anomaly	58	ACTA1	ORPHA:171433
HP:0034057	Fetal anomaly	58	ACTA1	ORPHA:171430
HP:0034057	Fetal anomaly	58	ACTA1	ORPHA:2020
HP:0034057	Fetal anomaly	58	ACTA1	OMIM:161800
HP:0034057	Fetal anomaly	2261	FGFR3	OMIM:187601
HP:0034057	Fetal anomaly	2261	FGFR3	OMIM:187600
HP:0034057	Fetal anomaly	4359	MPZ	OMIM:618184
HP:0034057	Fetal anomaly	2673	GFPT1	OMIM:608931
HP:0034057	Fetal anomaly	1145	CHRNE	OMIM:608931
HP:0034057	Fetal anomaly	27238	GPKOW	ORPHA:2570
HP:0034057	Fetal anomaly	199857	ALG14	OMIM:619036
HP:0034057	Fetal anomaly	29925	GMPPB	OMIM:615350
HP:0034057	Fetal anomaly	29925	GMPPB	OMIM:615351
HP:0034057	Fetal anomaly	5351	PLOD1	OMIM:225400
HP:0034057	Fetal anomaly	1144	CHRND	OMIM:616322
HP:0034057	Fetal anomaly	8506	CNTNAP1	OMIM:618186
HP:0034057	Fetal anomaly	8506	CNTNAP1	OMIM:616286
HP:0034057	Fetal anomaly	112	ADCY6	OMIM:616287
HP:0034057	Fetal anomaly	23345	SYNE1	ORPHA:88644
HP:0034057	Fetal anomaly	23345	SYNE1	OMIM:618484
HP:0034057	Fetal anomaly	23345	SYNE1	ORPHA:319332
HP:0034057	Fetal anomaly	56203	LMOD3	OMIM:616165
HP:0034057	Fetal anomaly	56203	LMOD3	ORPHA:171430
HP:0034057	Fetal anomaly	5913	RAPSN	OMIM:616326
HP:0034057	Fetal anomaly	5913	RAPSN	OMIM:618388
HP:0034057	Fetal anomaly	51126	NAA20	OMIM:619717
HP:0034057	Fetal anomaly	10059	DNM1L	OMIM:614388
HP:0034057	Fetal anomaly	1355	COX15	OMIM:615119
HP:0034057	Fetal anomaly	145173	B3GLCT	ORPHA:709
HP:0034057	Fetal anomaly	4703	NEB	OMIM:256030
HP:0034057	Fetal anomaly	4703	NEB	ORPHA:171433
HP:0034057	Fetal anomaly	4703	NEB	ORPHA:171430
HP:0034057	Fetal anomaly	4703	NEB	OMIM:619334
HP:0034057	Fetal anomaly	10102	TSFM	OMIM:610505
HP:0034057	Fetal anomaly	274	BIN1	ORPHA:169189
HP:0034057	Fetal anomaly	274	BIN1	OMIM:255200
HP:0034057	Fetal anomaly	64419	MTMR14	ORPHA:169189
HP:0034057	Fetal anomaly	4618	MYF6	ORPHA:169189
HP:0034057	Fetal anomaly	1785	DNM2	ORPHA:169189
HP:0034057	Fetal anomaly	1785	DNM2	OMIM:615368
HP:0034057	Fetal anomaly	7681	MKRN3	OMIM:176270
HP:0034057	Fetal anomaly	3653	IPW	OMIM:176270
HP:0034057	Fetal anomaly	54551	MAGEL2	OMIM:176270
HP:0034057	Fetal anomaly	54551	MAGEL2	ORPHA:177904
HP:0034057	Fetal anomaly	54551	MAGEL2	ORPHA:177901
HP:0034057	Fetal anomaly	54551	MAGEL2	ORPHA:398069
HP:0034057	Fetal anomaly	54551	MAGEL2	ORPHA:177910
HP:0034057	Fetal anomaly	54551	MAGEL2	OMIM:615547
HP:0034057	Fetal anomaly	54551	MAGEL2	ORPHA:98754
HP:0034057	Fetal anomaly	791114	PWRN1	OMIM:176270
HP:0034057	Fetal anomaly	100033413	SNORD116-1	OMIM:176270
HP:0034057	Fetal anomaly	8924	HERC2	OMIM:176270
HP:0034057	Fetal anomaly	145624	PWAR1	OMIM:176270
HP:0034057	Fetal anomaly	23742	NPAP1	OMIM:176270
HP:0034057	Fetal anomaly	338433	SNORD115-1	OMIM:176270
HP:0034057	Fetal anomaly	1303	COL12A1	ORPHA:75840
HP:0034057	Fetal anomaly	1291	COL6A1	ORPHA:75840
HP:0034057	Fetal anomaly	1291	COL6A1	OMIM:158810
HP:0034057	Fetal anomaly	1292	COL6A2	ORPHA:75840
HP:0034057	Fetal anomaly	1292	COL6A2	OMIM:158810
HP:0034057	Fetal anomaly	1293	COL6A3	ORPHA:75840
HP:0034057	Fetal anomaly	1293	COL6A3	OMIM:158810
HP:0034057	Fetal anomaly	59341	TRPV4	OMIM:156530
HP:0034057	Fetal anomaly	59341	TRPV4	OMIM:600175
HP:0034057	Fetal anomaly	3481	IGF2	ORPHA:231144
HP:0034057	Fetal anomaly	283120	H19	ORPHA:231144
HP:0034057	Fetal anomaly	2073	ERCC5	OMIM:616570
HP:0034057	Fetal anomaly	23114	NFASC	OMIM:618356
HP:0034057	Fetal anomaly	10324	KLHL41	ORPHA:171433
HP:0034057	Fetal anomaly	10324	KLHL41	ORPHA:171430
HP:0034057	Fetal anomaly	7170	TPM3	ORPHA:171433
HP:0034057	Fetal anomaly	7170	TPM3	ORPHA:2020
HP:0034057	Fetal anomaly	7170	TPM3	OMIM:255310
HP:0034057	Fetal anomaly	131377	KLHL40	ORPHA:171430
HP:0034057	Fetal anomaly	131377	KLHL40	OMIM:615348
HP:0034057	Fetal anomaly	4649	MYO9A	OMIM:618198
HP:0034057	Fetal anomaly	4649	MYO9A	ORPHA:98914
HP:0034057	Fetal anomaly	6616	SNAP25	OMIM:616330
HP:0034057	Fetal anomaly	6616	SNAP25	ORPHA:98914
HP:0034057	Fetal anomaly	84466	MEGF10	OMIM:614399
HP:0034057	Fetal anomaly	1763	DNA2	ORPHA:352470
HP:0034057	Fetal anomaly	2314	FLII	ORPHA:819
HP:0034057	Fetal anomaly	23096	IQSEC2	ORPHA:819
HP:0034057	Fetal anomaly	10743	RAI1	ORPHA:819
HP:0034057	Fetal anomaly	10522	DEAF1	ORPHA:819
HP:0034057	Fetal anomaly	55033	FKBP14	OMIM:614557
HP:0034057	Fetal anomaly	9200	HACD1	OMIM:619967
HP:0034057	Fetal anomaly	9200	HACD1	ORPHA:2020
HP:0034057	Fetal anomaly	3508	IGHMBP2	OMIM:604320
HP:0034057	Fetal anomaly	5979	RET	ORPHA:99803
HP:0034057	Fetal anomaly	429	ASCL1	ORPHA:99803
HP:0034057	Fetal anomaly	8929	PHOX2B	ORPHA:99803
HP:0034057	Fetal anomaly	1760	DMPK	OMIM:160900
HP:0034057	Fetal anomaly	1760	DMPK	ORPHA:589821
HP:0034057	Fetal anomaly	7125	TNNC2	OMIM:620161
HP:0034057	Fetal anomaly	284403	WDR62	OMIM:604317
HP:0034057	Fetal anomaly	6638	SNRPN	ORPHA:177904
HP:0034057	Fetal anomaly	6638	SNRPN	ORPHA:177901
HP:0034057	Fetal anomaly	6638	SNRPN	ORPHA:177910
HP:0034057	Fetal anomaly	6638	SNRPN	ORPHA:98754
HP:0034057	Fetal anomaly	4692	NDN	ORPHA:177904
HP:0034057	Fetal anomaly	4692	NDN	ORPHA:177901
HP:0034057	Fetal anomaly	4692	NDN	ORPHA:177910
HP:0034057	Fetal anomaly	4692	NDN	ORPHA:98754
HP:0034057	Fetal anomaly	4948	OCA2	ORPHA:177904
HP:0034057	Fetal anomaly	4948	OCA2	ORPHA:177901
HP:0034057	Fetal anomaly	4948	OCA2	ORPHA:98754
HP:0034057	Fetal anomaly	4621	MYH3	OMIM:193700
HP:0034057	Fetal anomaly	64324	NSD1	OMIM:117550
HP:0034057	Fetal anomaly	55906	ZC4H2	OMIM:314580
HP:0034057	Fetal anomaly	8260	NAA10	OMIM:300855
HP:0034057	Fetal anomaly	146862	UNC45B	OMIM:619178
HP:0034057	Fetal anomaly	1272	CNTN1	OMIM:612540
HP:0034057	Fetal anomaly	23511	NUP188	OMIM:618804
HP:0034057	Fetal anomaly	1147	CHUK	OMIM:613630
HP:0034057	Fetal anomaly	27315	PGAP2	OMIM:614207
HP:0034057	Fetal anomaly	55681	SCYL2	OMIM:618766
HP:0034057	Fetal anomaly	55681	SCYL2	ORPHA:1143
HP:0034057	Fetal anomaly	51008	ASCC1	OMIM:616867
HP:0034057	Fetal anomaly	9325	TRIP4	OMIM:616866
HP:0034057	Fetal anomaly	6606	SMN1	OMIM:253300
HP:0034057	Fetal anomaly	1717	DHCR7	OMIM:270400
HP:0034057	Fetal anomaly	10815	CPLX1	ORPHA:280
HP:0034057	Fetal anomaly	10815	CPLX1	OMIM:194190
HP:0034057	Fetal anomaly	54872	PIGG	ORPHA:280
HP:0034057	Fetal anomaly	7469	NELFA	ORPHA:280
HP:0034057	Fetal anomaly	1487	CTBP1	ORPHA:280
HP:0034057	Fetal anomaly	1487	CTBP1	OMIM:194190
HP:0034057	Fetal anomaly	3954	LETM1	ORPHA:280
HP:0034057	Fetal anomaly	3954	LETM1	OMIM:194190
HP:0034057	Fetal anomaly	7468	NSD2	ORPHA:280
HP:0034057	Fetal anomaly	7468	NSD2	OMIM:194190
HP:0034057	Fetal anomaly	57190	SELENON	ORPHA:2020
HP:0034057	Fetal anomaly	4633	MYL2	ORPHA:2020
HP:0034057	Fetal anomaly	3679	ITGA7	ORPHA:2020
HP:0034057	Fetal anomaly	7169	TPM2	ORPHA:2020
HP:0034057	Fetal anomaly	51776	MAP3K20	ORPHA:2020
HP:0034057	Fetal anomaly	51651	PTRH2	ORPHA:456312
HP:0034057	Fetal anomaly	51651	PTRH2	OMIM:616263
HP:0034057	Fetal anomaly	2906	GRIN2D	OMIM:617162
HP:0034057	Fetal anomaly	2906	GRIN2D	ORPHA:442835
HP:0034057	Fetal anomaly	7317	UBA1	OMIM:301830
HP:0034057	Fetal anomaly	127833	SYT2	OMIM:619461
HP:0034057	Fetal anomaly	127833	SYT2	ORPHA:98914
HP:0034057	Fetal anomaly	3560	IL2RB	OMIM:618495
HP:0034057	Fetal anomaly	6885	MAP3K7	OMIM:157800
HP:0034057	Fetal anomaly	4613	MYCN	OMIM:164280
HP:0034057	Fetal anomaly	4632	MYL1	OMIM:618414
HP:0034057	Fetal anomaly	3737	KCNA2	ORPHA:442835
HP:0034057	Fetal anomaly	1759	DNM1	ORPHA:442835
HP:0034057	Fetal anomaly	8120	AP3B2	ORPHA:442835
HP:0034057	Fetal anomaly	523	ATP6V1A	ORPHA:442835
HP:0034057	Fetal anomaly	10991	SLC38A3	ORPHA:442835
HP:0034057	Fetal anomaly	51343	FZR1	ORPHA:442835
HP:0034057	Fetal anomaly	22906	TRAK1	ORPHA:442835
HP:0034057	Fetal anomaly	2566	GABRG2	ORPHA:442835
HP:0034057	Fetal anomaly	1917	EEF1A2	ORPHA:442835
HP:0034057	Fetal anomaly	2561	GABRB2	ORPHA:442835
HP:0034057	Fetal anomaly	8831	SYNGAP1	ORPHA:442835
HP:0034057	Fetal anomaly	7532	YWHAG	ORPHA:442835
HP:0034057	Fetal anomaly	79876	UBA5	ORPHA:442835
HP:0034057	Fetal anomaly	6328	SCN3A	ORPHA:442835
HP:0034057	Fetal anomaly	2558	GABRA5	ORPHA:442835
HP:0034057	Fetal anomaly	781	CACNA2D1	ORPHA:442835
HP:0034057	Fetal anomaly	116150	NUS1	ORPHA:442835
HP:0034057	Fetal anomaly	10659	CELF2	ORPHA:442835
HP:0034057	Fetal anomaly	774	CACNA1B	ORPHA:442835
HP:0034057	Fetal anomaly	1213	CLTC	ORPHA:442835
HP:0034057	Fetal anomaly	51741	WWOX	ORPHA:442835
HP:0034057	Fetal anomaly	23334	SZT2	ORPHA:442835
HP:0034057	Fetal anomaly	51412	ACTL6B	ORPHA:442835
HP:0034057	Fetal anomaly	348980	HCN1	ORPHA:442835
HP:0034057	Fetal anomaly	6506	SLC1A2	ORPHA:442835
HP:0034057	Fetal anomaly	8867	SYNJ1	ORPHA:442835
HP:0034057	Fetal anomaly	477	ATP1A2	ORPHA:442835
HP:0034057	Fetal anomaly	3745	KCNB1	ORPHA:442835
HP:0034057	Fetal anomaly	284111	SLC13A5	ORPHA:442835
HP:0034057	Fetal anomaly	25977	NECAP1	ORPHA:442835
HP:0034057	Fetal anomaly	25977	NECAP1	OMIM:615833
HP:0034057	Fetal anomaly	16	AARS1	ORPHA:442835
HP:0034057	Fetal anomaly	6334	SCN8A	ORPHA:442835
HP:0034057	Fetal anomaly	22866	CNKSR2	ORPHA:442835
HP:0034057	Fetal anomaly	9568	GABBR2	ORPHA:442835
HP:0034057	Fetal anomaly	2555	GABRA2	ORPHA:442835
HP:0034057	Fetal anomaly	55152	DALRD3	ORPHA:442835
HP:0034057	Fetal anomaly	773	CACNA1A	ORPHA:442835
HP:0034057	Fetal anomaly	26999	CYFIP2	ORPHA:442835
HP:0034057	Fetal anomaly	4915	NTRK2	ORPHA:442835
HP:0034057	Fetal anomaly	25973	PARS2	ORPHA:442835
HP:0034057	Fetal anomaly	23097	CDK19	ORPHA:442835
HP:0034057	Fetal anomaly	64801	ARV1	ORPHA:442835
HP:0034057	Fetal anomaly	79947	DHDDS	ORPHA:442835
HP:0034057	Fetal anomaly	2257	FGF12	ORPHA:442835
HP:0034057	Fetal anomaly	478	ATP1A3	ORPHA:442835
HP:0034057	Fetal anomaly	53834	FGFRL1	OMIM:194190
HP:0034057	Fetal anomaly	57572	DOCK6	OMIM:614219
HP:0034057	Fetal anomaly	60386	SLC25A19	ORPHA:99742
HP:0034057	Fetal anomaly	26227	PHGDH	OMIM:256520
HP:0034057	Fetal anomaly	4534	MTM1	ORPHA:596
HP:0034057	Fetal anomaly	4534	MTM1	OMIM:310400
HP:0034057	Fetal anomaly	4953	ODC1	OMIM:619075
HP:0034057	Fetal anomaly	1798	DPAGT1	ORPHA:86309
HP:0034057	Fetal anomaly	23299	BICD2	ORPHA:363454
HP:0034057	Fetal anomaly	23299	BICD2	OMIM:618291
HP:0034057	Fetal anomaly	253738	EBF3	OMIM:617330
HP:0034057	Fetal anomaly	7874	USP7	ORPHA:500055
HP:0034057	Fetal anomaly	57003	CCDC47	OMIM:618268
HP:0034057	Fetal anomaly	157680	VPS13B	ORPHA:193
HP:0034057	Fetal anomaly	9453	GGPS1	OMIM:619518
HP:0034057	Fetal anomaly	1861	TOR1A	OMIM:618947
HP:0034057	Fetal anomaly	51692	CPSF3	OMIM:619876
HP:0034057	Fetal anomaly	8087	FXR1	OMIM:618823
HP:0034057	Fetal anomaly	8364	H4C3	OMIM:619758
HP:0034057	Fetal anomaly	54499	TMCO1	OMIM:213980
HP:0034057	Fetal anomaly	51611	DPH5	OMIM:620070
HP:0034057	Fetal anomaly	10293	TRAIP	OMIM:616777
HP:0034057	Fetal anomaly	163175	LGI4	OMIM:617468
HP:0034057	Fetal anomaly	60482	SLC5A7	ORPHA:98914
HP:0034057	Fetal anomaly	1305	COL13A1	ORPHA:98914
HP:0034057	Fetal anomaly	1103	CHAT	ORPHA:98914
HP:0034057	Fetal anomaly	6576	SLC25A1	ORPHA:98914
HP:0034057	Fetal anomaly	6843	VAMP1	ORPHA:98914
HP:0034057	Fetal anomaly	6843	VAMP1	OMIM:618323
HP:0034057	Fetal anomaly	375790	AGRN	ORPHA:98914
HP:0034057	Fetal anomaly	6572	SLC18A3	ORPHA:98914
HP:0034057	Fetal anomaly	55164	SHQ1	OMIM:619922
HP:0034057	Fetal anomaly	6519	SLC3A1	ORPHA:163690
HP:0034057	Fetal anomaly	6519	SLC3A1	ORPHA:163693
HP:0034057	Fetal anomaly	9581	PREPL	ORPHA:163690
HP:0034057	Fetal anomaly	9581	PREPL	ORPHA:163693
HP:0034057	Fetal anomaly	51244	CCDC174	OMIM:616816
HP:0034057	Fetal anomaly	6663	SOX10	OMIM:609136
HP:0034057	Fetal anomaly	2065	ERBB3	OMIM:607598
HP:0034057	Fetal anomaly	5495	PPM1B	ORPHA:163693
HP:0034057	Fetal anomaly	79823	CAMKMT	ORPHA:163693
HP:0034057	Fetal anomaly	342035	GLDN	OMIM:617194
HP:0034057	Fetal anomaly	729920	CRPPA	OMIM:614643
HP:0034057	Fetal anomaly	10269	ZMPSTE24	ORPHA:1662
HP:0034057	Fetal anomaly	10269	ZMPSTE24	OMIM:275210
HP:0034057	Fetal anomaly	23219	FBXO28	OMIM:619777
HP:0034057	Fetal anomaly	84570	COL25A1	ORPHA:1143
HP:0034057	Fetal anomaly	57222	ERGIC1	ORPHA:1143
HP:0034057	Fetal anomaly	5430	POLR2A	OMIM:618603
HP:0034057	Fetal anomaly	6567	SLC16A2	ORPHA:59
HP:0034057	Fetal anomaly	81570	CLPB	OMIM:616271
HP:0034057	Fetal anomaly	58497	PRUNE1	OMIM:617481
HP:0034057	Fetal anomaly	54101	RIPK4	OMIM:263650
HP:0034057	Fetal anomaly	115286	SLC25A26	OMIM:616794
HP:0034057	Fetal anomaly	5081	PAX7	OMIM:618578
HP:0034057	Fetal anomaly	389827	MYMK	OMIM:254940
HP:0034057	Fetal anomaly	285489	DOK7	OMIM:254300
HP:0034057	Fetal anomaly	5337	PLD1	OMIM:212093
HP:0034057	Fetal anomaly	355	FAS	ORPHA:3261
HP:0034057	Fetal anomaly	356	FASLG	ORPHA:3261
HP:0034057	Fetal anomaly	5580	PRKCD	ORPHA:3261
HP:0034057	Fetal anomaly	843	CASP10	ORPHA:3261
HP:0034057	Fetal anomaly	10125	RASGRP1	ORPHA:3261
HP:0034057	Fetal anomaly	1836	SLC26A2	OMIM:600972
HP:0034057	Fetal anomaly	1836	SLC26A2	ORPHA:93298
HP:0034057	Fetal anomaly	10112	KIF20A	OMIM:619433
HP:0034057	Fetal anomaly	5167	ENPP1	ORPHA:51608
HP:0034057	Fetal anomaly	368	ABCC6	ORPHA:51608
HP:0034057	Fetal anomaly	4750	NEK1	OMIM:263520
HP:0034057	Fetal anomaly	2632	GBE1	OMIM:232500
HP:0034057	Fetal anomaly	9508	ADAMTS3	ORPHA:2136
HP:0034057	Fetal anomaly	79633	FAT4	ORPHA:2136
HP:0034057	Fetal anomaly	57539	WDR35	OMIM:613610
HP:0034057	Fetal anomaly	57539	WDR35	ORPHA:93271
HP:0034057	Fetal anomaly	57539	WDR35	OMIM:614091
HP:0034057	Fetal anomaly	4758	NEU1	OMIM:256550
HP:0034057	Fetal anomaly	2990	GUSB	ORPHA:584
HP:0034057	Fetal anomaly	2990	GUSB	OMIM:253220
HP:0034057	Fetal anomaly	79796	ALG9	ORPHA:79328
HP:0034057	Fetal anomaly	4247	MGAT2	ORPHA:79329
HP:0034057	Fetal anomaly	6888	TALDO1	ORPHA:101028
HP:0034057	Fetal anomaly	55112	DYNC2I1	ORPHA:93271
HP:0034057	Fetal anomaly	57560	IFT80	ORPHA:93271
HP:0034057	Fetal anomaly	79659	DYNC2H1	ORPHA:93271
HP:0034057	Fetal anomaly	89891	DYNC2I2	ORPHA:93271
HP:0034057	Fetal anomaly	91754	NEK9	OMIM:617022
HP:0034057	Fetal anomaly	202018	TAPT1	OMIM:616897
HP:0034057	Fetal anomaly	3030	HADHA	OMIM:609015
HP:0034057	Fetal anomaly	2122	MECOM	OMIM:616738
HP:0034057	Fetal anomaly	2720	GLB1	ORPHA:79255
HP:0034057	Fetal anomaly	2720	GLB1	OMIM:230500
HP:0034057	Fetal anomaly	1146	CHRNG	OMIM:265000
HP:0034057	Fetal anomaly	427	ASAH1	ORPHA:333
HP:0034057	Fetal anomaly	26503	SLC17A5	OMIM:269920
HP:0034057	Fetal anomaly	9786	KIAA0586	OMIM:616546
HP:0034057	Fetal anomaly	10661	KLF1	OMIM:613673
HP:0034057	Fetal anomaly	6261	RYR1	OMIM:255320
HP:0034057	Fetal anomaly	7476	WNT7A	ORPHA:2879
HP:0034057	Fetal anomaly	1280	COL2A1	ORPHA:85166
HP:0034057	Fetal anomaly	1280	COL2A1	OMIM:200610
HP:0034057	Fetal anomaly	25974	MMACHC	ORPHA:79282
HP:0034057	Fetal anomaly	2317	FLNB	ORPHA:1263
HP:0034057	Fetal anomaly	55109	AGGF1	ORPHA:90308
HP:0034057	Fetal anomaly	3339	HSPG2	ORPHA:1865
HP:0034057	Fetal anomaly	79053	ALG8	ORPHA:79325
HP:0034057	Fetal anomaly	2035	EPB41	ORPHA:288
HP:0034057	Fetal anomaly	2995	GYPC	ORPHA:288
HP:0034057	Fetal anomaly	6710	SPTB	ORPHA:288
HP:0034057	Fetal anomaly	6708	SPTA1	ORPHA:288
HP:0034057	Fetal anomaly	9896	FIG4	OMIM:216340
HP:0034057	Fetal anomaly	9896	FIG4	ORPHA:3472
HP:0034057	Fetal anomaly	191	AHCY	ORPHA:88618
HP:0034057	Fetal anomaly	7809	BSND	OMIM:602522
HP:0034057	Fetal anomaly	55697	VAC14	ORPHA:3472
HP:0034057	Fetal anomaly	1301	COL11A1	OMIM:228520
HP:0034057	Fetal anomaly	4905	NSF	OMIM:619340
HP:0034057	Fetal anomaly	146059	CDAN1	OMIM:224120
HP:0034057	Fetal anomaly	4591	TRIM37	OMIM:253250
HP:0034057	Fetal anomaly	3039	HBA1	ORPHA:163596
HP:0034057	Fetal anomaly	3040	HBA2	ORPHA:163596
HP:0034057	Fetal anomaly	54345	SOX18	OMIM:137940
HP:0034057	Fetal anomaly	54345	SOX18	OMIM:607823
HP:0034057	Fetal anomaly	3930	LBR	OMIM:215140
HP:0034057	Fetal anomaly	2294	FOXF1	OMIM:265380
HP:0034057	Fetal anomaly	55388	MCM10	OMIM:619313
HP:0034057	Fetal anomaly	4593	MUSK	OMIM:208150
HP:0034057	Fetal anomaly	5530	PPP3CA	OMIM:618265
HP:0034057	Fetal anomaly	9780	PIEZO1	OMIM:616843
HP:0034057	Fetal anomaly	1277	COL1A1	OMIM:166210
HP:0034057	Fetal anomaly	1278	COL1A2	OMIM:166210
HP:0034057	Fetal anomaly	55901	THSD1	OMIM:620244
HP:0034057	Fetal anomaly	54675	CRLS1	OMIM:620167
HP:0034057	Fetal anomaly	147372	CCBE1	OMIM:235510
HP:0034057	Fetal anomaly	7389	UROD	ORPHA:95159
HP:0034057	Fetal anomaly	6331	SCN5A	OMIM:603830
HP:0034057	Fetal anomaly	5313	PKLR	OMIM:266200
HP:0034057	Fetal anomaly	6135	RPL11	ORPHA:124
HP:0034057	Fetal anomaly	6138	RPL15	ORPHA:124
HP:0034057	Fetal anomaly	6229	RPS24	ORPHA:124
HP:0034057	Fetal anomaly	6125	RPL5	ORPHA:124
HP:0034057	Fetal anomaly	6204	RPS10	ORPHA:124
HP:0034057	Fetal anomaly	6224	RPS20	ORPHA:124
HP:0034057	Fetal anomaly	6165	RPL35A	ORPHA:124
HP:0034057	Fetal anomaly	6223	RPS19	ORPHA:124
HP:0034057	Fetal anomaly	6232	RPS27	ORPHA:124
HP:0034057	Fetal anomaly	6231	RPS26	ORPHA:124
HP:0034057	Fetal anomaly	11224	RPL35	ORPHA:124
HP:0034057	Fetal anomaly	6160	RPL31	ORPHA:124
HP:0034057	Fetal anomaly	6218	RPS17	ORPHA:124
HP:0034057	Fetal anomaly	6201	RPS7	ORPHA:124
HP:0034057	Fetal anomaly	6155	RPL27	ORPHA:124
HP:0034057	Fetal anomaly	6154	RPL26	ORPHA:124
HP:0034057	Fetal anomaly	6210	RPS15A	ORPHA:124
HP:0034057	Fetal anomaly	90121	TSR2	ORPHA:124
HP:0034057	Fetal anomaly	6141	RPL18	ORPHA:124
HP:0034057	Fetal anomaly	6235	RPS29	ORPHA:124
HP:0034057	Fetal anomaly	6234	RPS28	ORPHA:124
HP:0034057	Fetal anomaly	51816	ADA2	ORPHA:124
HP:0034057	Fetal anomaly	57538	ALPK3	OMIM:618052
HP:0034057	Fetal anomaly	4716	NDUFB10	OMIM:619003
HP:0034057	Fetal anomaly	23395	LARS2	OMIM:617021
HP:0034057	Fetal anomaly	10203	CALCRL	OMIM:618773
HP:0034057	Fetal anomaly	2324	FLT4	OMIM:153100
HP:0034057	Fetal anomaly	79587	CARS2	ORPHA:477774
HP:0034057	Fetal anomaly	2050	EPHB4	OMIM:617300
HP:0034057	Fetal anomaly	2050	EPHB4	ORPHA:137667
HP:0034057	Fetal anomaly	2303	FOXC2	OMIM:153400
HP:0034057	Fetal anomaly	55278	QRSL1	OMIM:618835
HP:0034057	Fetal anomaly	23426	GRIP1	OMIM:617667
HP:0034057	Fetal anomaly	5188	GATB	OMIM:618838
HP:0034057	Fetal anomaly	9971	NR1H4	OMIM:617049
HP:0034057	Fetal anomaly	5921	RASA1	ORPHA:137667
HP:0034057	Fetal anomaly	23169	SLC35D1	OMIM:269250
HP:0034057	Fetal anomaly	7390	UROS	ORPHA:79277
HP:0034057	Fetal anomaly	283459	GATC	OMIM:618839
HP:0034057	Fetal anomaly	56052	ALG1	OMIM:608540
HP:0034057	Fetal anomaly	5476	CTSA	OMIM:256540
HP:0034057	Fetal anomaly	5373	PMM2	OMIM:212065
HP:0034057	Fetal anomaly	2783	GNB2	OMIM:619503
HP:0034057	Fetal anomaly	10577	NPC2	OMIM:607625
HP:0034057	Fetal anomaly	3295	HSD17B4	OMIM:261515
HP:0034057	Fetal anomaly	29969	MDFIC	OMIM:620014
HP:0034057	Fetal anomaly	4864	NPC1	OMIM:257220
HP:0034057	Fetal anomaly	5745	PTH1R	OMIM:215045
HP:0034057	Fetal anomaly	6007	RHD	OMIM:619462
HP:0034057	Fetal anomaly	1984	EIF5A	OMIM:619376
HP:0034057	Fetal anomaly	7846	TUBA1A	ORPHA:994
HP:0034057	Fetal anomaly	4654	MYOD1	ORPHA:994
HP:0034057	Fetal anomaly	4654	MYOD1	OMIM:618975
HP:0034057	Fetal anomaly	94005	PIGS	OMIM:618143
HP:0034057	Fetal anomaly	2733	GLE1	OMIM:611890
HP:0034057	Fetal anomaly	84665	MYPN	ORPHA:171439
HP:0034057	Fetal anomaly	390594	KBTBD13	ORPHA:171439
HP:0034057	Fetal anomaly	3800	KIF5C	OMIM:615282
HP:0034057	Fetal anomaly	1134	CHRNA1	OMIM:253290
HP:0034057	Fetal anomaly	7051	TGM1	OMIM:242300
HP:0034057	Fetal anomaly	3141	HLCS	ORPHA:79242
HP:0034057	Fetal anomaly	6023	RMRP	ORPHA:39041
HP:0034057	Fetal anomaly	55636	CHD7	ORPHA:39041
HP:0034057	Fetal anomaly	3981	LIG4	ORPHA:39041
HP:0034057	Fetal anomaly	5896	RAG1	ORPHA:39041
HP:0034057	Fetal anomaly	5897	RAG2	ORPHA:39041
HP:0034057	Fetal anomaly	64421	DCLRE1C	ORPHA:39041
HP:0034057	Fetal anomaly	100	ADA	ORPHA:39041
HP:0034057	Fetal anomaly	3575	IL7R	ORPHA:39041
HP:0034057	Fetal anomaly	3561	IL2RG	ORPHA:39041
HP:0034057	Fetal anomaly	2629	GBA1	OMIM:608013
HP:0034057	Fetal anomaly	10999	SLC27A4	ORPHA:88621
HP:0034057	Fetal anomaly	340533	NEXMIF	OMIM:300912
HP:0034057	Fetal anomaly	2743	GLRB	OMIM:614619
HP:0034057	Fetal anomaly	104	ADARB1	OMIM:618862
HP:0034057	Fetal anomaly	29895	MYL11	OMIM:619110
HP:0034057	Fetal anomaly	10274	STAG1	OMIM:617635
HP:0034057	Fetal anomaly	6804	STX1A	ORPHA:904
HP:0034057	Fetal anomaly	7461	CLIP2	ORPHA:904
HP:0034057	Fetal anomaly	84277	DNAJC30	ORPHA:904
HP:0034057	Fetal anomaly	8468	FKBP6	ORPHA:904
HP:0034057	Fetal anomaly	5982	RFC2	ORPHA:904
HP:0034057	Fetal anomaly	2969	GTF2I	ORPHA:904
HP:0034057	Fetal anomaly	3984	LIMK1	ORPHA:904
HP:0034057	Fetal anomaly	9569	GTF2IRD1	ORPHA:904
HP:0034057	Fetal anomaly	155382	VPS37D	ORPHA:904
HP:0034057	Fetal anomaly	155368	METTL27	ORPHA:904
HP:0034057	Fetal anomaly	114049	BUD23	ORPHA:904
HP:0034057	Fetal anomaly	7458	EIF4H	ORPHA:904
HP:0034057	Fetal anomaly	84163	GTF2IRD2	ORPHA:904
HP:0034057	Fetal anomaly	9275	BCL7B	ORPHA:904
HP:0034057	Fetal anomaly	26608	TBL2	ORPHA:904
HP:0034057	Fetal anomaly	653361	NCF1	ORPHA:904
HP:0034057	Fetal anomaly	135886	TMEM270	ORPHA:904
HP:0034057	Fetal anomaly	51085	MLXIPL	ORPHA:904
HP:0034057	Fetal anomaly	9031	BAZ1B	ORPHA:904
HP:0034057	Fetal anomaly	2006	ELN	ORPHA:904
HP:0034057	Fetal anomaly	79770	TXNDC15	OMIM:619879
HP:0034057	Fetal anomaly	415	ARSL	ORPHA:79345
HP:0034057	Fetal anomaly	83475	DOHH	OMIM:620066
HP:0034057	Fetal anomaly	9184	BUB3	ORPHA:1052
HP:0034057	Fetal anomaly	9702	CEP57	ORPHA:1052
HP:0034057	Fetal anomaly	9319	TRIP13	ORPHA:1052
HP:0034057	Fetal anomaly	701	BUB1B	ORPHA:1052
HP:0034057	Fetal anomaly	1822	ATN1	OMIM:618494
HP:0034057	Fetal anomaly	55790	CSGALNACT1	OMIM:618870
HP:0034057	Fetal anomaly	10082	GPC6	ORPHA:93329
HP:0034057	Fetal anomaly	168667	BMPER	OMIM:608022
HP:0034057	Fetal anomaly	5879	RAC1	OMIM:617751
HP:0034057	Fetal anomaly	374879	ZNF699	OMIM:619488
HP:0034057	Fetal anomaly	8085	KMT2D	OMIM:620186
HP:0034057	Fetal anomaly	84992	PIGY	OMIM:616809
HP:0034057	Fetal anomaly	2258	FGF13	OMIM:301058
HP:0034057	Fetal anomaly	284058	KANSL1	ORPHA:363965
HP:0034057	Fetal anomaly	284058	KANSL1	ORPHA:363958
HP:0034057	Fetal anomaly	1182	CLCN3	OMIM:619512
HP:0034057	Fetal anomaly	10398	MYL9	OMIM:619365
HP:0034057	Fetal anomaly	93627	TBCK	OMIM:616900
HP:0034057	Fetal anomaly	10472	ZBTB18	OMIM:612337
HP:0034057	Fetal anomaly	54796	BNC2	ORPHA:93110
HP:0034057	Fetal anomaly	55252	ASXL2	OMIM:617190
HP:0034057	Fetal anomaly	51021	MRPS16	OMIM:610498
HP:0034057	Fetal anomaly	9578	CDC42BPB	OMIM:619841
HP:0034057	Fetal anomaly	56896	DPYSL5	OMIM:619435
HP:0034057	Fetal anomaly	5297	PI4KA	ORPHA:436252
HP:0034057	Fetal anomaly	57217	TTC7A	ORPHA:436252
HP:0034057	Fetal anomaly	57217	TTC7A	OMIM:243150
HP:0034057	Fetal anomaly	54361	WNT4	OMIM:611812
HP:0034057	Fetal anomaly	100128927	ZBTB42	OMIM:616248
HP:0034057	Fetal anomaly	4927	NUP88	OMIM:618393
HP:0034057	Fetal anomaly	9321	TRIP11	OMIM:200600
HP:0034057	Fetal anomaly	57211	ADGRG6	OMIM:616503
HP:0034057	Fetal anomaly	2187	FANCB	OMIM:314390
HP:0034057	Fetal anomaly	7547	ZIC3	OMIM:314390
HP:0034057	Fetal anomaly	26153	KIF26A	OMIM:620156
HP:0034057	Fetal anomaly	2271	FH	OMIM:606812
HP:0034057	Fetal anomaly	5277	PIGA	OMIM:300868
HP:0034057	Fetal anomaly	7386	UQCRFS1	OMIM:618775
HP:0034057	Fetal anomaly	699	BUB1	OMIM:620183
HP:0034057	Fetal anomaly	10128	LRPPRC	OMIM:220111
HP:0034057	Fetal anomaly	11212	PLPBP	OMIM:617290
HP:0034057	Fetal anomaly	11212	PLPBP	ORPHA:3006
HP:0034057	Fetal anomaly	54539	NDUFB11	ORPHA:2609
HP:0034057	Fetal anomaly	25915	NDUFAF3	ORPHA:2609
HP:0034057	Fetal anomaly	51103	NDUFAF1	ORPHA:2609
HP:0034057	Fetal anomaly	91942	NDUFAF2	ORPHA:2609
HP:0034057	Fetal anomaly	51300	TIMMDC1	ORPHA:2609
HP:0034057	Fetal anomaly	4723	NDUFV1	ORPHA:2609
HP:0034057	Fetal anomaly	55572	FOXRED1	ORPHA:2609
HP:0034057	Fetal anomaly	284184	NDUFAF8	ORPHA:2609
HP:0034057	Fetal anomaly	55863	TMEM126B	ORPHA:2609
HP:0034057	Fetal anomaly	4535	MT-ND1	ORPHA:2609
HP:0034057	Fetal anomaly	4537	MT-ND3	ORPHA:2609
HP:0034057	Fetal anomaly	4729	NDUFV2	ORPHA:2609
HP:0034057	Fetal anomaly	4694	NDUFA1	ORPHA:2609
HP:0034057	Fetal anomaly	4720	NDUFS2	ORPHA:2609
HP:0034057	Fetal anomaly	4724	NDUFS4	ORPHA:2609
HP:0034057	Fetal anomaly	4726	NDUFS6	ORPHA:2609
HP:0034057	Fetal anomaly	4728	NDUFS8	ORPHA:2609
HP:0034057	Fetal anomaly	4722	NDUFS3	ORPHA:2609
HP:0034057	Fetal anomaly	79133	NDUFAF5	ORPHA:2609
HP:0034057	Fetal anomaly	126328	NDUFA11	ORPHA:2609
HP:0034057	Fetal anomaly	4709	NDUFB3	ORPHA:2609
HP:0034057	Fetal anomaly	80224	NUBPL	ORPHA:2609
HP:0034057	Fetal anomaly	29078	NDUFAF4	ORPHA:2609
HP:0034057	Fetal anomaly	374291	NDUFS7	ORPHA:2609
HP:0034057	Fetal anomaly	4700	NDUFA6	ORPHA:2609
HP:0034057	Fetal anomaly	4536	MT-ND2	ORPHA:2609
HP:0034057	Fetal anomaly	4719	NDUFS1	ORPHA:2609
HP:0034057	Fetal anomaly	4715	NDUFB9	ORPHA:2609
HP:0034057	Fetal anomaly	23013	SPEN	OMIM:619312
HP:0034057	Fetal anomaly	10664	CTCF	ORPHA:363611
HP:0034057	Fetal anomaly	79989	IFT56	OMIM:619534
HP:0034057	Fetal anomaly	2334	AFF2	OMIM:309548
HP:0034057	Fetal anomaly	10526	IPO8	OMIM:619472
HP:0034057	Fetal anomaly	6651	SON	ORPHA:500150
HP:0034057	Fetal anomaly	28962	OSTM1	ORPHA:85179
HP:0034057	Fetal anomaly	5393	EXOSC9	OMIM:618065
HP:0034057	Fetal anomaly	4000	LMNA	OMIM:619793
HP:0034057	Fetal anomaly	4705	NDUFA10	OMIM:618243
HP:0034057	Fetal anomaly	11274	USP18	OMIM:617397
HP:0034057	Fetal anomaly	816	CAMK2B	OMIM:617799
HP:0034057	Fetal anomaly	5828	PEX2	OMIM:614866
HP:0034057	Fetal anomaly	1788	DNMT3A	OMIM:615879
HP:0034057	Fetal anomaly	9570	GOSR2	OMIM:620166
HP:0034057	Fetal anomaly	501	ALDH7A1	ORPHA:3006
HP:0034057	Fetal anomaly	501	ALDH7A1	OMIM:266100
HP:0034057	Fetal anomaly	5205	ATP8B1	OMIM:147480
HP:0034057	Fetal anomaly	6536	SLC6A9	OMIM:617301
HP:0034057	Fetal anomaly	284361	EMC10	OMIM:619264
HP:0034057	Fetal anomaly	5244	ABCB4	OMIM:614972
HP:0034057	Fetal anomaly	56479	KCNQ5	OMIM:617601
HP:0034057	Fetal anomaly	10320	IKZF1	OMIM:616873
HP:0034057	Fetal anomaly	3557	IL1RN	OMIM:612852
HP:0034057	Fetal anomaly	55210	ATAD3A	OMIM:618810
HP:0034057	Fetal anomaly	6513	SLC2A1	OMIM:608885
HP:0034057	Fetal anomaly	5826	ABCD4	OMIM:614857
HP:0034057	Fetal anomaly	8905	AP1S2	OMIM:304340
HP:0034057	Fetal anomaly	2623	GATA1	OMIM:190685
HP:0034057	Fetal anomaly	286204	CRB2	OMIM:219730
HP:0034057	Fetal anomaly	56945	MRPS22	OMIM:611719
HP:0034057	Fetal anomaly	1725	DHPS	OMIM:618480
HP:0034057	Fetal anomaly	27077	B9D1	OMIM:614209
HP:0034057	Fetal anomaly	6925	TCF4	OMIM:610954
HP:0034057	Fetal anomaly	117581	TWIST2	OMIM:200110
HP:0034058	Abnormal fetal morphology	10682	EBP	ORPHA:401973
HP:0034058	Abnormal fetal morphology	10128	LRPPRC	OMIM:220111
HP:0034058	Abnormal fetal morphology	1947	EFNB1	ORPHA:1520
HP:0034058	Abnormal fetal morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0034058	Abnormal fetal morphology	7355	SLC35A2	ORPHA:356961
HP:0034058	Abnormal fetal morphology	22800	RRAS2	ORPHA:648
HP:0034058	Abnormal fetal morphology	867	CBL	ORPHA:648
HP:0034058	Abnormal fetal morphology	6016	RIT1	ORPHA:648
HP:0034058	Abnormal fetal morphology	6237	RRAS	ORPHA:648
HP:0034058	Abnormal fetal morphology	5894	RAF1	ORPHA:648
HP:0034058	Abnormal fetal morphology	22808	MRAS	ORPHA:648
HP:0034058	Abnormal fetal morphology	3845	KRAS	ORPHA:648
HP:0034058	Abnormal fetal morphology	200734	SPRED2	ORPHA:648
HP:0034058	Abnormal fetal morphology	6654	SOS1	ORPHA:648
HP:0034058	Abnormal fetal morphology	6655	SOS2	ORPHA:648
HP:0034058	Abnormal fetal morphology	5781	PTPN11	ORPHA:648
HP:0034058	Abnormal fetal morphology	5922	RASA2	ORPHA:648
HP:0034058	Abnormal fetal morphology	526	ATP6V1B2	ORPHA:79500
HP:0034058	Abnormal fetal morphology	57465	TBC1D24	ORPHA:79500
HP:0034058	Abnormal fetal morphology	57465	TBC1D24	OMIM:220500
HP:0034058	Abnormal fetal morphology	3265	HRAS	ORPHA:3071
HP:0034058	Abnormal fetal morphology	29968	PSAT1	ORPHA:284417
HP:0034058	Abnormal fetal morphology	25978	CHMP2B	ORPHA:275864
HP:0034058	Abnormal fetal morphology	25978	CHMP2B	ORPHA:100070
HP:0034058	Abnormal fetal morphology	5663	PSEN1	ORPHA:275864
HP:0034058	Abnormal fetal morphology	5663	PSEN1	ORPHA:100070
HP:0034058	Abnormal fetal morphology	2896	GRN	ORPHA:275864
HP:0034058	Abnormal fetal morphology	2896	GRN	ORPHA:100070
HP:0034058	Abnormal fetal morphology	54664	TMEM106B	ORPHA:275864
HP:0034058	Abnormal fetal morphology	54664	TMEM106B	ORPHA:100070
HP:0034058	Abnormal fetal morphology	8878	SQSTM1	ORPHA:275864
HP:0034058	Abnormal fetal morphology	4137	MAPT	ORPHA:275864
HP:0034058	Abnormal fetal morphology	4137	MAPT	ORPHA:100070
HP:0034058	Abnormal fetal morphology	54209	TREM2	ORPHA:275864
HP:0034058	Abnormal fetal morphology	54209	TREM2	ORPHA:100070
HP:0034058	Abnormal fetal morphology	7415	VCP	ORPHA:275864
HP:0034058	Abnormal fetal morphology	7415	VCP	ORPHA:100070
HP:0034058	Abnormal fetal morphology	55670	PEX26	ORPHA:912
HP:0034058	Abnormal fetal morphology	5824	PEX19	ORPHA:912
HP:0034058	Abnormal fetal morphology	5828	PEX2	ORPHA:912
HP:0034058	Abnormal fetal morphology	8504	PEX3	ORPHA:912
HP:0034058	Abnormal fetal morphology	8799	PEX11B	ORPHA:912
HP:0034058	Abnormal fetal morphology	9409	PEX16	ORPHA:912
HP:0034058	Abnormal fetal morphology	5190	PEX6	ORPHA:912
HP:0034058	Abnormal fetal morphology	5830	PEX5	ORPHA:912
HP:0034058	Abnormal fetal morphology	5189	PEX1	ORPHA:912
HP:0034058	Abnormal fetal morphology	5193	PEX12	ORPHA:912
HP:0034058	Abnormal fetal morphology	5194	PEX13	ORPHA:912
HP:0034058	Abnormal fetal morphology	5195	PEX14	ORPHA:912
HP:0034058	Abnormal fetal morphology	5192	PEX10	ORPHA:912
HP:0034058	Abnormal fetal morphology	3911	LAMA5	OMIM:620076
HP:0034058	Abnormal fetal morphology	2294	FOXF1	OMIM:265380
HP:0034058	Abnormal fetal morphology	2294	FOXF1	ORPHA:210122
HP:0034058	Abnormal fetal morphology	7490	WT1	OMIM:608978
HP:0034058	Abnormal fetal morphology	5447	POR	OMIM:201750
HP:0034058	Abnormal fetal morphology	5977	DPF2	OMIM:618027
HP:0034058	Abnormal fetal morphology	2627	GATA6	ORPHA:2255
HP:0034058	Abnormal fetal morphology	2627	GATA6	OMIM:600001
HP:0034058	Abnormal fetal morphology	374879	ZNF699	OMIM:619488
HP:0034058	Abnormal fetal morphology	91179	SCARF2	OMIM:600920
HP:0034058	Abnormal fetal morphology	54870	QRICH1	OMIM:617982
HP:0034058	Abnormal fetal morphology	202018	TAPT1	OMIM:616897
HP:0034058	Abnormal fetal morphology	4893	NRAS	OMIM:613224
HP:0034058	Abnormal fetal morphology	55784	MCTP2	ORPHA:1596
HP:0034058	Abnormal fetal morphology	55690	PACS1	OMIM:615009
HP:0034058	Abnormal fetal morphology	55690	PACS1	ORPHA:329224
HP:0034058	Abnormal fetal morphology	4625	MYH7	OMIM:613426
HP:0034058	Abnormal fetal morphology	2188	FANCF	OMIM:603467
HP:0034058	Abnormal fetal morphology	9897	WASHC5	OMIM:220210
HP:0034058	Abnormal fetal morphology	9897	WASHC5	ORPHA:7
HP:0034058	Abnormal fetal morphology	775	CACNA1C	OMIM:601005
HP:0034058	Abnormal fetal morphology	84992	PIGY	ORPHA:247262
HP:0034058	Abnormal fetal morphology	84720	PIGO	ORPHA:247262
HP:0034058	Abnormal fetal morphology	93210	PGAP3	ORPHA:247262
HP:0034058	Abnormal fetal morphology	284098	PIGW	ORPHA:247262
HP:0034058	Abnormal fetal morphology	27315	PGAP2	ORPHA:247262
HP:0034058	Abnormal fetal morphology	55650	PIGV	ORPHA:247262
HP:0034058	Abnormal fetal morphology	9487	PIGL	ORPHA:247262
HP:0034058	Abnormal fetal morphology	3339	HSPG2	OMIM:224410
HP:0034058	Abnormal fetal morphology	3339	HSPG2	ORPHA:1865
HP:0034058	Abnormal fetal morphology	84231	TRAF7	OMIM:618164
HP:0034058	Abnormal fetal morphology	10463	SLC30A9	OMIM:617595
HP:0034058	Abnormal fetal morphology	55901	THSD1	OMIM:620244
HP:0034058	Abnormal fetal morphology	7473	WNT3	OMIM:273395
HP:0034058	Abnormal fetal morphology	3239	HOXD13	ORPHA:887
HP:0034058	Abnormal fetal morphology	28952	CCDC22	ORPHA:7
HP:0034058	Abnormal fetal morphology	11011	TLK2	OMIM:618050
HP:0034058	Abnormal fetal morphology	1656	DDX6	OMIM:618653
HP:0034058	Abnormal fetal morphology	54903	MKS1	OMIM:249000
HP:0034058	Abnormal fetal morphology	23384	SPECC1L	OMIM:145420
HP:0034058	Abnormal fetal morphology	2783	GNB2	OMIM:619503
HP:0034058	Abnormal fetal morphology	5062	PAK2	OMIM:618458
HP:0034058	Abnormal fetal morphology	79633	FAT4	OMIM:615546
HP:0034058	Abnormal fetal morphology	5337	PLD1	OMIM:212093
HP:0034058	Abnormal fetal morphology	355	FAS	ORPHA:3261
HP:0034058	Abnormal fetal morphology	356	FASLG	ORPHA:3261
HP:0034058	Abnormal fetal morphology	5580	PRKCD	ORPHA:3261
HP:0034058	Abnormal fetal morphology	843	CASP10	ORPHA:3261
HP:0034058	Abnormal fetal morphology	10125	RASGRP1	ORPHA:3261
HP:0034058	Abnormal fetal morphology	1836	SLC26A2	OMIM:600972
HP:0034058	Abnormal fetal morphology	1836	SLC26A2	ORPHA:93298
HP:0034058	Abnormal fetal morphology	10112	KIF20A	OMIM:619433
HP:0034058	Abnormal fetal morphology	5167	ENPP1	ORPHA:51608
HP:0034058	Abnormal fetal morphology	368	ABCC6	ORPHA:51608
HP:0034058	Abnormal fetal morphology	4750	NEK1	OMIM:263520
HP:0034058	Abnormal fetal morphology	2632	GBE1	OMIM:232500
HP:0034058	Abnormal fetal morphology	9508	ADAMTS3	ORPHA:2136
HP:0034058	Abnormal fetal morphology	57539	WDR35	OMIM:613610
HP:0034058	Abnormal fetal morphology	57539	WDR35	ORPHA:93271
HP:0034058	Abnormal fetal morphology	57539	WDR35	OMIM:614091
HP:0034058	Abnormal fetal morphology	4758	NEU1	OMIM:256550
HP:0034058	Abnormal fetal morphology	2990	GUSB	ORPHA:584
HP:0034058	Abnormal fetal morphology	2990	GUSB	OMIM:253220
HP:0034058	Abnormal fetal morphology	79796	ALG9	ORPHA:79328
HP:0034058	Abnormal fetal morphology	4247	MGAT2	ORPHA:79329
HP:0034058	Abnormal fetal morphology	6888	TALDO1	ORPHA:101028
HP:0034058	Abnormal fetal morphology	55112	DYNC2I1	ORPHA:93271
HP:0034058	Abnormal fetal morphology	57560	IFT80	ORPHA:93271
HP:0034058	Abnormal fetal morphology	79659	DYNC2H1	ORPHA:93271
HP:0034058	Abnormal fetal morphology	89891	DYNC2I2	ORPHA:93271
HP:0034058	Abnormal fetal morphology	91754	NEK9	OMIM:617022
HP:0034058	Abnormal fetal morphology	3030	HADHA	OMIM:609015
HP:0034058	Abnormal fetal morphology	2122	MECOM	OMIM:616738
HP:0034058	Abnormal fetal morphology	2720	GLB1	ORPHA:79255
HP:0034058	Abnormal fetal morphology	2720	GLB1	OMIM:230500
HP:0034058	Abnormal fetal morphology	1146	CHRNG	OMIM:265000
HP:0034058	Abnormal fetal morphology	427	ASAH1	ORPHA:333
HP:0034058	Abnormal fetal morphology	26503	SLC17A5	OMIM:269920
HP:0034058	Abnormal fetal morphology	9786	KIAA0586	OMIM:616546
HP:0034058	Abnormal fetal morphology	10661	KLF1	OMIM:613673
HP:0034058	Abnormal fetal morphology	6261	RYR1	OMIM:255320
HP:0034058	Abnormal fetal morphology	7476	WNT7A	ORPHA:2879
HP:0034058	Abnormal fetal morphology	1280	COL2A1	ORPHA:85166
HP:0034058	Abnormal fetal morphology	1280	COL2A1	OMIM:200610
HP:0034058	Abnormal fetal morphology	25974	MMACHC	ORPHA:79282
HP:0034058	Abnormal fetal morphology	2317	FLNB	ORPHA:1263
HP:0034058	Abnormal fetal morphology	55109	AGGF1	ORPHA:90308
HP:0034058	Abnormal fetal morphology	79053	ALG8	ORPHA:79325
HP:0034058	Abnormal fetal morphology	2035	EPB41	ORPHA:288
HP:0034058	Abnormal fetal morphology	2995	GYPC	ORPHA:288
HP:0034058	Abnormal fetal morphology	6710	SPTB	ORPHA:288
HP:0034058	Abnormal fetal morphology	6708	SPTA1	ORPHA:288
HP:0034058	Abnormal fetal morphology	191	AHCY	ORPHA:88618
HP:0034058	Abnormal fetal morphology	7809	BSND	OMIM:602522
HP:0034058	Abnormal fetal morphology	1301	COL11A1	OMIM:228520
HP:0034058	Abnormal fetal morphology	4905	NSF	OMIM:619340
HP:0034058	Abnormal fetal morphology	146059	CDAN1	OMIM:224120
HP:0034058	Abnormal fetal morphology	4591	TRIM37	OMIM:253250
HP:0034058	Abnormal fetal morphology	3039	HBA1	ORPHA:163596
HP:0034058	Abnormal fetal morphology	3040	HBA2	ORPHA:163596
HP:0034058	Abnormal fetal morphology	54345	SOX18	OMIM:137940
HP:0034058	Abnormal fetal morphology	54345	SOX18	OMIM:607823
HP:0034058	Abnormal fetal morphology	55388	MCM10	OMIM:619313
HP:0034058	Abnormal fetal morphology	5530	PPP3CA	OMIM:618265
HP:0034058	Abnormal fetal morphology	9780	PIEZO1	OMIM:616843
HP:0034058	Abnormal fetal morphology	1277	COL1A1	OMIM:166210
HP:0034058	Abnormal fetal morphology	1278	COL1A2	OMIM:166210
HP:0034058	Abnormal fetal morphology	54675	CRLS1	OMIM:620167
HP:0034058	Abnormal fetal morphology	147372	CCBE1	OMIM:235510
HP:0034058	Abnormal fetal morphology	7389	UROD	ORPHA:95159
HP:0034058	Abnormal fetal morphology	6331	SCN5A	OMIM:603830
HP:0034058	Abnormal fetal morphology	5313	PKLR	OMIM:266200
HP:0034058	Abnormal fetal morphology	6135	RPL11	ORPHA:124
HP:0034058	Abnormal fetal morphology	6138	RPL15	ORPHA:124
HP:0034058	Abnormal fetal morphology	6229	RPS24	ORPHA:124
HP:0034058	Abnormal fetal morphology	6125	RPL5	ORPHA:124
HP:0034058	Abnormal fetal morphology	6204	RPS10	ORPHA:124
HP:0034058	Abnormal fetal morphology	6224	RPS20	ORPHA:124
HP:0034058	Abnormal fetal morphology	6165	RPL35A	ORPHA:124
HP:0034058	Abnormal fetal morphology	6223	RPS19	ORPHA:124
HP:0034058	Abnormal fetal morphology	6232	RPS27	ORPHA:124
HP:0034058	Abnormal fetal morphology	6231	RPS26	ORPHA:124
HP:0034058	Abnormal fetal morphology	11224	RPL35	ORPHA:124
HP:0034058	Abnormal fetal morphology	6160	RPL31	ORPHA:124
HP:0034058	Abnormal fetal morphology	6218	RPS17	ORPHA:124
HP:0034058	Abnormal fetal morphology	6201	RPS7	ORPHA:124
HP:0034058	Abnormal fetal morphology	6155	RPL27	ORPHA:124
HP:0034058	Abnormal fetal morphology	6154	RPL26	ORPHA:124
HP:0034058	Abnormal fetal morphology	6210	RPS15A	ORPHA:124
HP:0034058	Abnormal fetal morphology	90121	TSR2	ORPHA:124
HP:0034058	Abnormal fetal morphology	6141	RPL18	ORPHA:124
HP:0034058	Abnormal fetal morphology	6235	RPS29	ORPHA:124
HP:0034058	Abnormal fetal morphology	6234	RPS28	ORPHA:124
HP:0034058	Abnormal fetal morphology	51816	ADA2	ORPHA:124
HP:0034058	Abnormal fetal morphology	57538	ALPK3	OMIM:618052
HP:0034058	Abnormal fetal morphology	4716	NDUFB10	OMIM:619003
HP:0034058	Abnormal fetal morphology	23395	LARS2	OMIM:617021
HP:0034058	Abnormal fetal morphology	10203	CALCRL	OMIM:618773
HP:0034058	Abnormal fetal morphology	2324	FLT4	OMIM:153100
HP:0034058	Abnormal fetal morphology	79587	CARS2	ORPHA:477774
HP:0034058	Abnormal fetal morphology	2303	FOXC2	OMIM:153400
HP:0034058	Abnormal fetal morphology	55278	QRSL1	OMIM:618835
HP:0034058	Abnormal fetal morphology	5188	GATB	OMIM:618838
HP:0034058	Abnormal fetal morphology	9971	NR1H4	OMIM:617049
HP:0034058	Abnormal fetal morphology	5921	RASA1	ORPHA:137667
HP:0034058	Abnormal fetal morphology	23169	SLC35D1	OMIM:269250
HP:0034058	Abnormal fetal morphology	7390	UROS	ORPHA:79277
HP:0034058	Abnormal fetal morphology	283459	GATC	OMIM:618839
HP:0034058	Abnormal fetal morphology	56052	ALG1	OMIM:608540
HP:0034058	Abnormal fetal morphology	5476	CTSA	OMIM:256540
HP:0034058	Abnormal fetal morphology	5373	PMM2	OMIM:212065
HP:0034058	Abnormal fetal morphology	10577	NPC2	OMIM:607625
HP:0034058	Abnormal fetal morphology	3295	HSD17B4	OMIM:261515
HP:0034058	Abnormal fetal morphology	29969	MDFIC	OMIM:620014
HP:0034058	Abnormal fetal morphology	4864	NPC1	OMIM:257220
HP:0034058	Abnormal fetal morphology	5745	PTH1R	OMIM:215045
HP:0034058	Abnormal fetal morphology	6007	RHD	OMIM:619462
HP:0034058	Abnormal fetal morphology	1984	EIF5A	OMIM:619376
HP:0034058	Abnormal fetal morphology	7051	TGM1	OMIM:242300
HP:0034058	Abnormal fetal morphology	3141	HLCS	ORPHA:79242
HP:0034058	Abnormal fetal morphology	6023	RMRP	ORPHA:39041
HP:0034058	Abnormal fetal morphology	55636	CHD7	ORPHA:39041
HP:0034058	Abnormal fetal morphology	3981	LIG4	ORPHA:39041
HP:0034058	Abnormal fetal morphology	5896	RAG1	ORPHA:39041
HP:0034058	Abnormal fetal morphology	5897	RAG2	ORPHA:39041
HP:0034058	Abnormal fetal morphology	64421	DCLRE1C	ORPHA:39041
HP:0034058	Abnormal fetal morphology	100	ADA	ORPHA:39041
HP:0034058	Abnormal fetal morphology	3575	IL7R	ORPHA:39041
HP:0034058	Abnormal fetal morphology	3561	IL2RG	ORPHA:39041
HP:0034058	Abnormal fetal morphology	2629	GBA1	OMIM:608013
HP:0034058	Abnormal fetal morphology	10999	SLC27A4	ORPHA:88621
HP:0034058	Abnormal fetal morphology	3930	LBR	OMIM:215140
HP:0034058	Abnormal fetal morphology	23476	BRD4	ORPHA:199
HP:0034058	Abnormal fetal morphology	9126	SMC3	ORPHA:199
HP:0034058	Abnormal fetal morphology	8243	SMC1A	ORPHA:199
HP:0034058	Abnormal fetal morphology	25836	NIPBL	ORPHA:199
HP:0034058	Abnormal fetal morphology	55869	HDAC8	ORPHA:199
HP:0034058	Abnormal fetal morphology	5885	RAD21	ORPHA:199
HP:0034058	Abnormal fetal morphology	699	BUB1	OMIM:620183
HP:0034058	Abnormal fetal morphology	699	BUB1	ORPHA:1052
HP:0034058	Abnormal fetal morphology	1725	DHPS	OMIM:618480
HP:0034058	Abnormal fetal morphology	104	ADARB1	OMIM:618862
HP:0034058	Abnormal fetal morphology	4593	MUSK	OMIM:208150
HP:0034058	Abnormal fetal morphology	8216	LZTR1	OMIM:616564
HP:0034058	Abnormal fetal morphology	8216	LZTR1	OMIM:605275
HP:0034058	Abnormal fetal morphology	29895	MYL11	OMIM:619110
HP:0034058	Abnormal fetal morphology	10274	STAG1	OMIM:617635
HP:0034058	Abnormal fetal morphology	6804	STX1A	ORPHA:904
HP:0034058	Abnormal fetal morphology	7461	CLIP2	ORPHA:904
HP:0034058	Abnormal fetal morphology	84277	DNAJC30	ORPHA:904
HP:0034058	Abnormal fetal morphology	8468	FKBP6	ORPHA:904
HP:0034058	Abnormal fetal morphology	5982	RFC2	ORPHA:904
HP:0034058	Abnormal fetal morphology	2969	GTF2I	ORPHA:904
HP:0034058	Abnormal fetal morphology	3984	LIMK1	ORPHA:904
HP:0034058	Abnormal fetal morphology	9569	GTF2IRD1	ORPHA:904
HP:0034058	Abnormal fetal morphology	155382	VPS37D	ORPHA:904
HP:0034058	Abnormal fetal morphology	155368	METTL27	ORPHA:904
HP:0034058	Abnormal fetal morphology	114049	BUD23	ORPHA:904
HP:0034058	Abnormal fetal morphology	7458	EIF4H	ORPHA:904
HP:0034058	Abnormal fetal morphology	84163	GTF2IRD2	ORPHA:904
HP:0034058	Abnormal fetal morphology	9275	BCL7B	ORPHA:904
HP:0034058	Abnormal fetal morphology	26608	TBL2	ORPHA:904
HP:0034058	Abnormal fetal morphology	653361	NCF1	ORPHA:904
HP:0034058	Abnormal fetal morphology	135886	TMEM270	ORPHA:904
HP:0034058	Abnormal fetal morphology	51085	MLXIPL	ORPHA:904
HP:0034058	Abnormal fetal morphology	9031	BAZ1B	ORPHA:904
HP:0034058	Abnormal fetal morphology	2006	ELN	ORPHA:904
HP:0034058	Abnormal fetal morphology	79770	TXNDC15	OMIM:619879
HP:0034058	Abnormal fetal morphology	415	ARSL	ORPHA:79345
HP:0034058	Abnormal fetal morphology	83475	DOHH	OMIM:620066
HP:0034058	Abnormal fetal morphology	3190	HNRNPK	ORPHA:352665
HP:0034058	Abnormal fetal morphology	3190	HNRNPK	ORPHA:453504
HP:0034058	Abnormal fetal morphology	23556	PIGN	ORPHA:280633
HP:0034058	Abnormal fetal morphology	9896	FIG4	ORPHA:3472
HP:0034058	Abnormal fetal morphology	55697	VAC14	ORPHA:3472
HP:0034058	Abnormal fetal morphology	9184	BUB3	ORPHA:1052
HP:0034058	Abnormal fetal morphology	9702	CEP57	ORPHA:1052
HP:0034058	Abnormal fetal morphology	9319	TRIP13	ORPHA:1052
HP:0034058	Abnormal fetal morphology	701	BUB1B	ORPHA:1052
HP:0034058	Abnormal fetal morphology	2050	EPHB4	OMIM:617300
HP:0034058	Abnormal fetal morphology	1822	ATN1	OMIM:618494
HP:0034058	Abnormal fetal morphology	55790	CSGALNACT1	OMIM:618870
HP:0034058	Abnormal fetal morphology	10082	GPC6	ORPHA:93329
HP:0034058	Abnormal fetal morphology	4953	ODC1	ORPHA:544488
HP:0034058	Abnormal fetal morphology	1717	DHCR7	ORPHA:818
HP:0034058	Abnormal fetal morphology	168667	BMPER	OMIM:608022
HP:0034058	Abnormal fetal morphology	5879	RAC1	OMIM:617751
HP:0034058	Abnormal fetal morphology	8085	KMT2D	OMIM:620186
HP:0034058	Abnormal fetal morphology	2258	FGF13	OMIM:301058
HP:0034058	Abnormal fetal morphology	284058	KANSL1	ORPHA:363965
HP:0034058	Abnormal fetal morphology	284058	KANSL1	ORPHA:363958
HP:0034058	Abnormal fetal morphology	1182	CLCN3	OMIM:619512
HP:0034058	Abnormal fetal morphology	10398	MYL9	OMIM:619365
HP:0034058	Abnormal fetal morphology	93627	TBCK	OMIM:616900
HP:0034058	Abnormal fetal morphology	10472	ZBTB18	OMIM:612337
HP:0034058	Abnormal fetal morphology	54796	BNC2	ORPHA:93110
HP:0034058	Abnormal fetal morphology	55252	ASXL2	OMIM:617190
HP:0034058	Abnormal fetal morphology	51021	MRPS16	OMIM:610498
HP:0034058	Abnormal fetal morphology	9578	CDC42BPB	OMIM:619841
HP:0034058	Abnormal fetal morphology	56896	DPYSL5	OMIM:619435
HP:0034058	Abnormal fetal morphology	5297	PI4KA	ORPHA:436252
HP:0034058	Abnormal fetal morphology	57217	TTC7A	ORPHA:436252
HP:0034058	Abnormal fetal morphology	57217	TTC7A	OMIM:243150
HP:0034058	Abnormal fetal morphology	54361	WNT4	OMIM:611812
HP:0034058	Abnormal fetal morphology	100128927	ZBTB42	OMIM:616248
HP:0034058	Abnormal fetal morphology	4927	NUP88	OMIM:618393
HP:0034058	Abnormal fetal morphology	9321	TRIP11	OMIM:200600
HP:0034058	Abnormal fetal morphology	57211	ADGRG6	OMIM:616503
HP:0034058	Abnormal fetal morphology	2187	FANCB	OMIM:314390
HP:0034058	Abnormal fetal morphology	7547	ZIC3	OMIM:314390
HP:0034058	Abnormal fetal morphology	26153	KIF26A	OMIM:620156
HP:0034058	Abnormal fetal morphology	2271	FH	OMIM:606812
HP:0034058	Abnormal fetal morphology	5277	PIGA	OMIM:300868
HP:0034058	Abnormal fetal morphology	2623	GATA1	OMIM:190685
HP:0034058	Abnormal fetal morphology	286204	CRB2	OMIM:219730
HP:0034058	Abnormal fetal morphology	56945	MRPS22	OMIM:611719
HP:0034058	Abnormal fetal morphology	23426	GRIP1	OMIM:617667
HP:0034058	Abnormal fetal morphology	27077	B9D1	OMIM:614209
HP:0034058	Abnormal fetal morphology	2261	FGFR3	OMIM:187600
HP:0034058	Abnormal fetal morphology	6925	TCF4	OMIM:610954
HP:0034058	Abnormal fetal morphology	117581	TWIST2	OMIM:200110
HP:0034059	Abnormal fetal physiology	23476	BRD4	ORPHA:199
HP:0034059	Abnormal fetal physiology	9126	SMC3	ORPHA:199
HP:0034059	Abnormal fetal physiology	8243	SMC1A	ORPHA:199
HP:0034059	Abnormal fetal physiology	25836	NIPBL	ORPHA:199
HP:0034059	Abnormal fetal physiology	55869	HDAC8	ORPHA:199
HP:0034059	Abnormal fetal physiology	5885	RAD21	ORPHA:199
HP:0034059	Abnormal fetal physiology	259232	NALCN	ORPHA:2053
HP:0034059	Abnormal fetal physiology	3339	HSPG2	ORPHA:800
HP:0034059	Abnormal fetal physiology	58	ACTA1	ORPHA:97240
HP:0034059	Abnormal fetal physiology	58	ACTA1	ORPHA:171433
HP:0034059	Abnormal fetal physiology	58	ACTA1	ORPHA:171430
HP:0034059	Abnormal fetal physiology	58	ACTA1	ORPHA:2020
HP:0034059	Abnormal fetal physiology	58	ACTA1	OMIM:161800
HP:0034059	Abnormal fetal physiology	2261	FGFR3	OMIM:187601
HP:0034059	Abnormal fetal physiology	2261	FGFR3	OMIM:187600
HP:0034059	Abnormal fetal physiology	4359	MPZ	OMIM:618184
HP:0034059	Abnormal fetal physiology	2673	GFPT1	OMIM:608931
HP:0034059	Abnormal fetal physiology	1145	CHRNE	OMIM:608931
HP:0034059	Abnormal fetal physiology	27238	GPKOW	ORPHA:2570
HP:0034059	Abnormal fetal physiology	199857	ALG14	OMIM:619036
HP:0034059	Abnormal fetal physiology	29925	GMPPB	OMIM:615350
HP:0034059	Abnormal fetal physiology	29925	GMPPB	OMIM:615351
HP:0034059	Abnormal fetal physiology	5351	PLOD1	OMIM:225400
HP:0034059	Abnormal fetal physiology	56896	DPYSL5	OMIM:619435
HP:0034059	Abnormal fetal physiology	1144	CHRND	OMIM:616322
HP:0034059	Abnormal fetal physiology	8506	CNTNAP1	OMIM:618186
HP:0034059	Abnormal fetal physiology	8506	CNTNAP1	OMIM:616286
HP:0034059	Abnormal fetal physiology	5393	EXOSC9	OMIM:618065
HP:0034059	Abnormal fetal physiology	112	ADCY6	OMIM:616287
HP:0034059	Abnormal fetal physiology	4000	LMNA	OMIM:619793
HP:0034059	Abnormal fetal physiology	4000	LMNA	ORPHA:157973
HP:0034059	Abnormal fetal physiology	4000	LMNA	ORPHA:1662
HP:0034059	Abnormal fetal physiology	4000	LMNA	OMIM:613205
HP:0034059	Abnormal fetal physiology	23345	SYNE1	ORPHA:88644
HP:0034059	Abnormal fetal physiology	23345	SYNE1	OMIM:618484
HP:0034059	Abnormal fetal physiology	23345	SYNE1	ORPHA:319332
HP:0034059	Abnormal fetal physiology	56203	LMOD3	OMIM:616165
HP:0034059	Abnormal fetal physiology	56203	LMOD3	ORPHA:171430
HP:0034059	Abnormal fetal physiology	5913	RAPSN	OMIM:616326
HP:0034059	Abnormal fetal physiology	5913	RAPSN	OMIM:618388
HP:0034059	Abnormal fetal physiology	2632	GBE1	OMIM:232500
HP:0034059	Abnormal fetal physiology	51126	NAA20	OMIM:619717
HP:0034059	Abnormal fetal physiology	10059	DNM1L	OMIM:614388
HP:0034059	Abnormal fetal physiology	1355	COX15	OMIM:615119
HP:0034059	Abnormal fetal physiology	145173	B3GLCT	ORPHA:709
HP:0034059	Abnormal fetal physiology	79796	ALG9	OMIM:608776
HP:0034059	Abnormal fetal physiology	79796	ALG9	ORPHA:79328
HP:0034059	Abnormal fetal physiology	4703	NEB	OMIM:256030
HP:0034059	Abnormal fetal physiology	4703	NEB	ORPHA:171433
HP:0034059	Abnormal fetal physiology	4703	NEB	ORPHA:171430
HP:0034059	Abnormal fetal physiology	4703	NEB	OMIM:619334
HP:0034059	Abnormal fetal physiology	10102	TSFM	OMIM:610505
HP:0034059	Abnormal fetal physiology	274	BIN1	ORPHA:169189
HP:0034059	Abnormal fetal physiology	274	BIN1	OMIM:255200
HP:0034059	Abnormal fetal physiology	64419	MTMR14	ORPHA:169189
HP:0034059	Abnormal fetal physiology	4618	MYF6	ORPHA:169189
HP:0034059	Abnormal fetal physiology	1785	DNM2	ORPHA:169189
HP:0034059	Abnormal fetal physiology	1785	DNM2	OMIM:615368
HP:0034059	Abnormal fetal physiology	6261	RYR1	ORPHA:169189
HP:0034059	Abnormal fetal physiology	6261	RYR1	OMIM:255320
HP:0034059	Abnormal fetal physiology	6261	RYR1	ORPHA:98905
HP:0034059	Abnormal fetal physiology	6261	RYR1	OMIM:619542
HP:0034059	Abnormal fetal physiology	2629	GBA1	OMIM:608013
HP:0034059	Abnormal fetal physiology	2629	GBA1	ORPHA:85212
HP:0034059	Abnormal fetal physiology	7681	MKRN3	OMIM:176270
HP:0034059	Abnormal fetal physiology	3653	IPW	OMIM:176270
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	OMIM:176270
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	ORPHA:177904
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	ORPHA:177901
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	ORPHA:398069
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	ORPHA:177910
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	OMIM:615547
HP:0034059	Abnormal fetal physiology	54551	MAGEL2	ORPHA:98754
HP:0034059	Abnormal fetal physiology	791114	PWRN1	OMIM:176270
HP:0034059	Abnormal fetal physiology	100033413	SNORD116-1	OMIM:176270
HP:0034059	Abnormal fetal physiology	8924	HERC2	OMIM:176270
HP:0034059	Abnormal fetal physiology	145624	PWAR1	OMIM:176270
HP:0034059	Abnormal fetal physiology	23742	NPAP1	OMIM:176270
HP:0034059	Abnormal fetal physiology	338433	SNORD115-1	OMIM:176270
HP:0034059	Abnormal fetal physiology	1303	COL12A1	ORPHA:75840
HP:0034059	Abnormal fetal physiology	1291	COL6A1	ORPHA:75840
HP:0034059	Abnormal fetal physiology	1291	COL6A1	OMIM:158810
HP:0034059	Abnormal fetal physiology	1292	COL6A2	ORPHA:75840
HP:0034059	Abnormal fetal physiology	1292	COL6A2	OMIM:158810
HP:0034059	Abnormal fetal physiology	1293	COL6A3	ORPHA:75840
HP:0034059	Abnormal fetal physiology	1293	COL6A3	OMIM:158810
HP:0034059	Abnormal fetal physiology	59341	TRPV4	OMIM:156530
HP:0034059	Abnormal fetal physiology	59341	TRPV4	OMIM:600175
HP:0034059	Abnormal fetal physiology	3481	IGF2	ORPHA:231144
HP:0034059	Abnormal fetal physiology	283120	H19	ORPHA:231144
HP:0034059	Abnormal fetal physiology	2073	ERCC5	OMIM:616570
HP:0034059	Abnormal fetal physiology	23114	NFASC	OMIM:618356
HP:0034059	Abnormal fetal physiology	9578	CDC42BPB	OMIM:619841
HP:0034059	Abnormal fetal physiology	10324	KLHL41	ORPHA:171433
HP:0034059	Abnormal fetal physiology	10324	KLHL41	ORPHA:171430
HP:0034059	Abnormal fetal physiology	7170	TPM3	ORPHA:171433
HP:0034059	Abnormal fetal physiology	7170	TPM3	ORPHA:2020
HP:0034059	Abnormal fetal physiology	7170	TPM3	OMIM:255310
HP:0034059	Abnormal fetal physiology	131377	KLHL40	ORPHA:171430
HP:0034059	Abnormal fetal physiology	131377	KLHL40	OMIM:615348
HP:0034059	Abnormal fetal physiology	4649	MYO9A	OMIM:618198
HP:0034059	Abnormal fetal physiology	4649	MYO9A	ORPHA:98914
HP:0034059	Abnormal fetal physiology	6616	SNAP25	OMIM:616330
HP:0034059	Abnormal fetal physiology	6616	SNAP25	ORPHA:98914
HP:0034059	Abnormal fetal physiology	84466	MEGF10	OMIM:614399
HP:0034059	Abnormal fetal physiology	1763	DNA2	ORPHA:352470
HP:0034059	Abnormal fetal physiology	2314	FLII	ORPHA:819
HP:0034059	Abnormal fetal physiology	23096	IQSEC2	ORPHA:819
HP:0034059	Abnormal fetal physiology	10743	RAI1	ORPHA:819
HP:0034059	Abnormal fetal physiology	10522	DEAF1	ORPHA:819
HP:0034059	Abnormal fetal physiology	55033	FKBP14	OMIM:614557
HP:0034059	Abnormal fetal physiology	9200	HACD1	OMIM:619967
HP:0034059	Abnormal fetal physiology	9200	HACD1	ORPHA:2020
HP:0034059	Abnormal fetal physiology	3508	IGHMBP2	OMIM:604320
HP:0034059	Abnormal fetal physiology	5979	RET	ORPHA:99803
HP:0034059	Abnormal fetal physiology	429	ASCL1	ORPHA:99803
HP:0034059	Abnormal fetal physiology	8929	PHOX2B	ORPHA:99803
HP:0034059	Abnormal fetal physiology	1760	DMPK	OMIM:160900
HP:0034059	Abnormal fetal physiology	1760	DMPK	ORPHA:589821
HP:0034059	Abnormal fetal physiology	7125	TNNC2	OMIM:620161
HP:0034059	Abnormal fetal physiology	284403	WDR62	OMIM:604317
HP:0034059	Abnormal fetal physiology	1146	CHRNG	OMIM:265000
HP:0034059	Abnormal fetal physiology	6638	SNRPN	ORPHA:177904
HP:0034059	Abnormal fetal physiology	6638	SNRPN	ORPHA:177901
HP:0034059	Abnormal fetal physiology	6638	SNRPN	ORPHA:177910
HP:0034059	Abnormal fetal physiology	6638	SNRPN	ORPHA:98754
HP:0034059	Abnormal fetal physiology	4692	NDN	ORPHA:177904
HP:0034059	Abnormal fetal physiology	4692	NDN	ORPHA:177901
HP:0034059	Abnormal fetal physiology	4692	NDN	ORPHA:177910
HP:0034059	Abnormal fetal physiology	4692	NDN	ORPHA:98754
HP:0034059	Abnormal fetal physiology	4948	OCA2	ORPHA:177904
HP:0034059	Abnormal fetal physiology	4948	OCA2	ORPHA:177901
HP:0034059	Abnormal fetal physiology	4948	OCA2	ORPHA:98754
HP:0034059	Abnormal fetal physiology	4621	MYH3	OMIM:193700
HP:0034059	Abnormal fetal physiology	64324	NSD1	OMIM:117550
HP:0034059	Abnormal fetal physiology	55906	ZC4H2	OMIM:314580
HP:0034059	Abnormal fetal physiology	8260	NAA10	OMIM:300855
HP:0034059	Abnormal fetal physiology	146862	UNC45B	OMIM:619178
HP:0034059	Abnormal fetal physiology	1272	CNTN1	OMIM:612540
HP:0034059	Abnormal fetal physiology	23511	NUP188	OMIM:618804
HP:0034059	Abnormal fetal physiology	1147	CHUK	OMIM:613630
HP:0034059	Abnormal fetal physiology	27315	PGAP2	OMIM:614207
HP:0034059	Abnormal fetal physiology	55681	SCYL2	OMIM:618766
HP:0034059	Abnormal fetal physiology	55681	SCYL2	ORPHA:1143
HP:0034059	Abnormal fetal physiology	93627	TBCK	OMIM:616900
HP:0034059	Abnormal fetal physiology	51008	ASCC1	OMIM:616867
HP:0034059	Abnormal fetal physiology	57211	ADGRG6	OMIM:616503
HP:0034059	Abnormal fetal physiology	9325	TRIP4	OMIM:616866
HP:0034059	Abnormal fetal physiology	9570	GOSR2	OMIM:620166
HP:0034059	Abnormal fetal physiology	6606	SMN1	OMIM:253300
HP:0034059	Abnormal fetal physiology	1717	DHCR7	OMIM:270400
HP:0034059	Abnormal fetal physiology	10815	CPLX1	ORPHA:280
HP:0034059	Abnormal fetal physiology	10815	CPLX1	OMIM:194190
HP:0034059	Abnormal fetal physiology	54872	PIGG	ORPHA:280
HP:0034059	Abnormal fetal physiology	7469	NELFA	ORPHA:280
HP:0034059	Abnormal fetal physiology	1487	CTBP1	ORPHA:280
HP:0034059	Abnormal fetal physiology	1487	CTBP1	OMIM:194190
HP:0034059	Abnormal fetal physiology	3954	LETM1	ORPHA:280
HP:0034059	Abnormal fetal physiology	3954	LETM1	OMIM:194190
HP:0034059	Abnormal fetal physiology	7468	NSD2	ORPHA:280
HP:0034059	Abnormal fetal physiology	7468	NSD2	OMIM:194190
HP:0034059	Abnormal fetal physiology	57190	SELENON	ORPHA:2020
HP:0034059	Abnormal fetal physiology	4633	MYL2	ORPHA:2020
HP:0034059	Abnormal fetal physiology	3679	ITGA7	ORPHA:2020
HP:0034059	Abnormal fetal physiology	7169	TPM2	ORPHA:2020
HP:0034059	Abnormal fetal physiology	51776	MAP3K20	ORPHA:2020
HP:0034059	Abnormal fetal physiology	51651	PTRH2	ORPHA:456312
HP:0034059	Abnormal fetal physiology	51651	PTRH2	OMIM:616263
HP:0034059	Abnormal fetal physiology	2906	GRIN2D	OMIM:617162
HP:0034059	Abnormal fetal physiology	2906	GRIN2D	ORPHA:442835
HP:0034059	Abnormal fetal physiology	7317	UBA1	OMIM:301830
HP:0034059	Abnormal fetal physiology	127833	SYT2	OMIM:619461
HP:0034059	Abnormal fetal physiology	127833	SYT2	ORPHA:98914
HP:0034059	Abnormal fetal physiology	3560	IL2RB	OMIM:618495
HP:0034059	Abnormal fetal physiology	6885	MAP3K7	OMIM:157800
HP:0034059	Abnormal fetal physiology	4613	MYCN	OMIM:164280
HP:0034059	Abnormal fetal physiology	2783	GNB2	OMIM:619503
HP:0034059	Abnormal fetal physiology	4632	MYL1	OMIM:618414
HP:0034059	Abnormal fetal physiology	3737	KCNA2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	1759	DNM1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	8120	AP3B2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	523	ATP6V1A	ORPHA:442835
HP:0034059	Abnormal fetal physiology	10991	SLC38A3	ORPHA:442835
HP:0034059	Abnormal fetal physiology	51343	FZR1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	22906	TRAK1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2566	GABRG2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	1917	EEF1A2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2561	GABRB2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	8831	SYNGAP1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	7532	YWHAG	ORPHA:442835
HP:0034059	Abnormal fetal physiology	79876	UBA5	ORPHA:442835
HP:0034059	Abnormal fetal physiology	6328	SCN3A	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2558	GABRA5	ORPHA:442835
HP:0034059	Abnormal fetal physiology	781	CACNA2D1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	116150	NUS1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	10659	CELF2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	774	CACNA1B	ORPHA:442835
HP:0034059	Abnormal fetal physiology	1213	CLTC	ORPHA:442835
HP:0034059	Abnormal fetal physiology	51741	WWOX	ORPHA:442835
HP:0034059	Abnormal fetal physiology	23334	SZT2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	51412	ACTL6B	ORPHA:442835
HP:0034059	Abnormal fetal physiology	348980	HCN1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	6506	SLC1A2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	8867	SYNJ1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2258	FGF13	ORPHA:442835
HP:0034059	Abnormal fetal physiology	477	ATP1A2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	3745	KCNB1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	284111	SLC13A5	ORPHA:442835
HP:0034059	Abnormal fetal physiology	25977	NECAP1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	25977	NECAP1	OMIM:615833
HP:0034059	Abnormal fetal physiology	16	AARS1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	6334	SCN8A	ORPHA:442835
HP:0034059	Abnormal fetal physiology	22866	CNKSR2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	9568	GABBR2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2555	GABRA2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	55152	DALRD3	ORPHA:442835
HP:0034059	Abnormal fetal physiology	773	CACNA1A	ORPHA:442835
HP:0034059	Abnormal fetal physiology	26999	CYFIP2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	4915	NTRK2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	25973	PARS2	ORPHA:442835
HP:0034059	Abnormal fetal physiology	23097	CDK19	ORPHA:442835
HP:0034059	Abnormal fetal physiology	64801	ARV1	ORPHA:442835
HP:0034059	Abnormal fetal physiology	79947	DHDDS	ORPHA:442835
HP:0034059	Abnormal fetal physiology	2257	FGF12	ORPHA:442835
HP:0034059	Abnormal fetal physiology	5530	PPP3CA	ORPHA:442835
HP:0034059	Abnormal fetal physiology	478	ATP1A3	ORPHA:442835
HP:0034059	Abnormal fetal physiology	79053	ALG8	OMIM:608104
HP:0034059	Abnormal fetal physiology	53834	FGFRL1	OMIM:194190
HP:0034059	Abnormal fetal physiology	57572	DOCK6	OMIM:614219
HP:0034059	Abnormal fetal physiology	60386	SLC25A19	ORPHA:99742
HP:0034059	Abnormal fetal physiology	26227	PHGDH	OMIM:256520
HP:0034059	Abnormal fetal physiology	4534	MTM1	ORPHA:596
HP:0034059	Abnormal fetal physiology	4534	MTM1	OMIM:310400
HP:0034059	Abnormal fetal physiology	4953	ODC1	OMIM:619075
HP:0034059	Abnormal fetal physiology	1798	DPAGT1	ORPHA:86309
HP:0034059	Abnormal fetal physiology	23299	BICD2	ORPHA:363454
HP:0034059	Abnormal fetal physiology	23299	BICD2	OMIM:618291
HP:0034059	Abnormal fetal physiology	253738	EBF3	OMIM:617330
HP:0034059	Abnormal fetal physiology	7874	USP7	ORPHA:500055
HP:0034059	Abnormal fetal physiology	57003	CCDC47	OMIM:618268
HP:0034059	Abnormal fetal physiology	157680	VPS13B	ORPHA:193
HP:0034059	Abnormal fetal physiology	4593	MUSK	OMIM:208150
HP:0034059	Abnormal fetal physiology	100128927	ZBTB42	OMIM:616248
HP:0034059	Abnormal fetal physiology	9453	GGPS1	OMIM:619518
HP:0034059	Abnormal fetal physiology	1861	TOR1A	OMIM:618947
HP:0034059	Abnormal fetal physiology	51692	CPSF3	OMIM:619876
HP:0034059	Abnormal fetal physiology	8087	FXR1	OMIM:618823
HP:0034059	Abnormal fetal physiology	8364	H4C3	OMIM:619758
HP:0034059	Abnormal fetal physiology	54499	TMCO1	OMIM:213980
HP:0034059	Abnormal fetal physiology	51611	DPH5	OMIM:620070
HP:0034059	Abnormal fetal physiology	4927	NUP88	OMIM:618393
HP:0034059	Abnormal fetal physiology	10293	TRAIP	OMIM:616777
HP:0034059	Abnormal fetal physiology	163175	LGI4	OMIM:617468
HP:0034059	Abnormal fetal physiology	60482	SLC5A7	ORPHA:98914
HP:0034059	Abnormal fetal physiology	1305	COL13A1	ORPHA:98914
HP:0034059	Abnormal fetal physiology	1103	CHAT	ORPHA:98914
HP:0034059	Abnormal fetal physiology	6576	SLC25A1	ORPHA:98914
HP:0034059	Abnormal fetal physiology	6843	VAMP1	ORPHA:98914
HP:0034059	Abnormal fetal physiology	6843	VAMP1	OMIM:618323
HP:0034059	Abnormal fetal physiology	375790	AGRN	ORPHA:98914
HP:0034059	Abnormal fetal physiology	6572	SLC18A3	ORPHA:98914
HP:0034059	Abnormal fetal physiology	55164	SHQ1	OMIM:619922
HP:0034059	Abnormal fetal physiology	6519	SLC3A1	ORPHA:163690
HP:0034059	Abnormal fetal physiology	6519	SLC3A1	ORPHA:163693
HP:0034059	Abnormal fetal physiology	9581	PREPL	ORPHA:163690
HP:0034059	Abnormal fetal physiology	9581	PREPL	ORPHA:163693
HP:0034059	Abnormal fetal physiology	51244	CCDC174	OMIM:616816
HP:0034059	Abnormal fetal physiology	6663	SOX10	OMIM:609136
HP:0034059	Abnormal fetal physiology	2065	ERBB3	OMIM:607598
HP:0034059	Abnormal fetal physiology	5495	PPM1B	ORPHA:163693
HP:0034059	Abnormal fetal physiology	79823	CAMKMT	ORPHA:163693
HP:0034059	Abnormal fetal physiology	342035	GLDN	OMIM:617194
HP:0034059	Abnormal fetal physiology	729920	CRPPA	OMIM:614643
HP:0034059	Abnormal fetal physiology	8504	PEX3	OMIM:614882
HP:0034059	Abnormal fetal physiology	10269	ZMPSTE24	ORPHA:1662
HP:0034059	Abnormal fetal physiology	10269	ZMPSTE24	OMIM:275210
HP:0034059	Abnormal fetal physiology	23219	FBXO28	OMIM:619777
HP:0034059	Abnormal fetal physiology	84570	COL25A1	ORPHA:1143
HP:0034059	Abnormal fetal physiology	57222	ERGIC1	ORPHA:1143
HP:0034059	Abnormal fetal physiology	5824	PEX19	OMIM:614886
HP:0034059	Abnormal fetal physiology	5430	POLR2A	OMIM:618603
HP:0034059	Abnormal fetal physiology	6567	SLC16A2	ORPHA:59
HP:0034059	Abnormal fetal physiology	81570	CLPB	OMIM:616271
HP:0034059	Abnormal fetal physiology	58497	PRUNE1	OMIM:617481
HP:0034059	Abnormal fetal physiology	54101	RIPK4	OMIM:263650
HP:0034059	Abnormal fetal physiology	115286	SLC25A26	OMIM:616794
HP:0034059	Abnormal fetal physiology	29968	PSAT1	OMIM:616038
HP:0034059	Abnormal fetal physiology	5081	PAX7	OMIM:618578
HP:0034059	Abnormal fetal physiology	389827	MYMK	OMIM:254940
HP:0034059	Abnormal fetal physiology	285489	DOK7	OMIM:254300
HP:0034059	Abnormal fetal physiology	7846	TUBA1A	ORPHA:994
HP:0034059	Abnormal fetal physiology	4654	MYOD1	ORPHA:994
HP:0034059	Abnormal fetal physiology	4654	MYOD1	OMIM:618975
HP:0034059	Abnormal fetal physiology	94005	PIGS	OMIM:618143
HP:0034059	Abnormal fetal physiology	2733	GLE1	OMIM:611890
HP:0034059	Abnormal fetal physiology	84665	MYPN	ORPHA:171439
HP:0034059	Abnormal fetal physiology	390594	KBTBD13	ORPHA:171439
HP:0034059	Abnormal fetal physiology	91754	NEK9	OMIM:617022
HP:0034059	Abnormal fetal physiology	3800	KIF5C	OMIM:615282
HP:0034059	Abnormal fetal physiology	1134	CHRNA1	OMIM:253290
HP:0034059	Abnormal fetal physiology	340533	NEXMIF	OMIM:300912
HP:0034059	Abnormal fetal physiology	2743	GLRB	OMIM:614619
HP:0034059	Abnormal fetal physiology	7386	UQCRFS1	OMIM:618775
HP:0034059	Abnormal fetal physiology	699	BUB1	OMIM:620183
HP:0034059	Abnormal fetal physiology	10128	LRPPRC	OMIM:220111
HP:0034059	Abnormal fetal physiology	11212	PLPBP	OMIM:617290
HP:0034059	Abnormal fetal physiology	11212	PLPBP	ORPHA:3006
HP:0034059	Abnormal fetal physiology	54539	NDUFB11	ORPHA:2609
HP:0034059	Abnormal fetal physiology	25915	NDUFAF3	ORPHA:2609
HP:0034059	Abnormal fetal physiology	51103	NDUFAF1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	91942	NDUFAF2	ORPHA:2609
HP:0034059	Abnormal fetal physiology	51300	TIMMDC1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4716	NDUFB10	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4723	NDUFV1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	55572	FOXRED1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	284184	NDUFAF8	ORPHA:2609
HP:0034059	Abnormal fetal physiology	55863	TMEM126B	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4535	MT-ND1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4537	MT-ND3	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4729	NDUFV2	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4694	NDUFA1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4720	NDUFS2	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4724	NDUFS4	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4726	NDUFS6	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4728	NDUFS8	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4722	NDUFS3	ORPHA:2609
HP:0034059	Abnormal fetal physiology	79133	NDUFAF5	ORPHA:2609
HP:0034059	Abnormal fetal physiology	126328	NDUFA11	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4709	NDUFB3	ORPHA:2609
HP:0034059	Abnormal fetal physiology	80224	NUBPL	ORPHA:2609
HP:0034059	Abnormal fetal physiology	29078	NDUFAF4	ORPHA:2609
HP:0034059	Abnormal fetal physiology	374291	NDUFS7	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4700	NDUFA6	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4536	MT-ND2	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4719	NDUFS1	ORPHA:2609
HP:0034059	Abnormal fetal physiology	4715	NDUFB9	ORPHA:2609
HP:0034059	Abnormal fetal physiology	23013	SPEN	OMIM:619312
HP:0034059	Abnormal fetal physiology	10664	CTCF	ORPHA:363611
HP:0034059	Abnormal fetal physiology	79989	IFT56	OMIM:619534
HP:0034059	Abnormal fetal physiology	2334	AFF2	OMIM:309548
HP:0034059	Abnormal fetal physiology	10526	IPO8	OMIM:619472
HP:0034059	Abnormal fetal physiology	6651	SON	ORPHA:500150
HP:0034059	Abnormal fetal physiology	5167	ENPP1	ORPHA:51608
HP:0034059	Abnormal fetal physiology	5167	ENPP1	OMIM:208000
HP:0034059	Abnormal fetal physiology	368	ABCC6	ORPHA:51608
HP:0034059	Abnormal fetal physiology	28962	OSTM1	ORPHA:85179
HP:0034059	Abnormal fetal physiology	4705	NDUFA10	OMIM:618243
HP:0034059	Abnormal fetal physiology	11274	USP18	OMIM:617397
HP:0034059	Abnormal fetal physiology	6135	RPL11	OMIM:612562
HP:0034059	Abnormal fetal physiology	816	CAMK2B	OMIM:617799
HP:0034059	Abnormal fetal physiology	5828	PEX2	OMIM:614866
HP:0034059	Abnormal fetal physiology	1788	DNMT3A	OMIM:615879
HP:0034059	Abnormal fetal physiology	501	ALDH7A1	ORPHA:3006
HP:0034059	Abnormal fetal physiology	501	ALDH7A1	OMIM:266100
HP:0034059	Abnormal fetal physiology	5205	ATP8B1	OMIM:147480
HP:0034059	Abnormal fetal physiology	6536	SLC6A9	OMIM:617301
HP:0034059	Abnormal fetal physiology	5277	PIGA	OMIM:300868
HP:0034059	Abnormal fetal physiology	284361	EMC10	OMIM:619264
HP:0034059	Abnormal fetal physiology	5244	ABCB4	OMIM:614972
HP:0034059	Abnormal fetal physiology	56479	KCNQ5	OMIM:617601
HP:0034059	Abnormal fetal physiology	10320	IKZF1	OMIM:616873
HP:0034059	Abnormal fetal physiology	3557	IL1RN	OMIM:612852
HP:0034059	Abnormal fetal physiology	55210	ATAD3A	OMIM:618810
HP:0034059	Abnormal fetal physiology	6513	SLC2A1	OMIM:608885
HP:0034059	Abnormal fetal physiology	5826	ABCD4	OMIM:614857
HP:0034059	Abnormal fetal physiology	8905	AP1S2	OMIM:304340
HP:0034063	Anti-islet antigen-2 antibody positivity	5611	DNAJC3	OMIM:616192
HP:0034063	Anti-islet antigen-2 antibody positivity	1854	DUT	OMIM:620044
HP:0034067	Tonofilament clumping	3852	KRT5	OMIM:619555
HP:0034067	Tonofilament clumping	3852	KRT5	OMIM:131760
HP:0034067	Tonofilament clumping	3861	KRT14	OMIM:131760
HP:0034075	Decreased circulating apolipoprotein B concentration	22948	CCT5	OMIM:256840
HP:5200104	Abnormal play	4204	MECP2	OMIM:300496
HP:5200104	Abnormal play	57502	NLGN4X	OMIM:300495
HP:5200104	Abnormal play	54413	NLGN3	OMIM:300425
HP:5200104	Abnormal play	6638	SNRPN	OMIM:209850
HP:0005701	Multiple enchondromatosis	5781	PTPN11	OMIM:156250
HP:0005701	Multiple enchondromatosis	5781	PTPN11	ORPHA:2499
HP:0005701	Multiple enchondromatosis	1280	COL2A1	ORPHA:85198
HP:0005701	Multiple enchondromatosis	84172	POLR1B	ORPHA:861
HP:0005701	Multiple enchondromatosis	9533	POLR1C	ORPHA:861
HP:0005701	Multiple enchondromatosis	51082	POLR1D	ORPHA:861
HP:0005701	Multiple enchondromatosis	6949	TCOF1	ORPHA:861
HP:0005701	Multiple enchondromatosis	3418	IDH2	ORPHA:163634
HP:0005701	Multiple enchondromatosis	3418	IDH2	ORPHA:296
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:163634
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:296
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:99646
HP:0005701	Multiple enchondromatosis	5745	PTH1R	ORPHA:296
HP:0005707	Bilateral triphalangeal thumbs	2263	FGFR2	OMIM:149730
HP:0005707	Bilateral triphalangeal thumbs	526	ATP6V1B2	OMIM:124480
HP:0005707	Bilateral triphalangeal thumbs	5281	PIGF	OMIM:619356
HP:0005709	2-3 toe cutaneous syndactyly	1717	DHCR7	OMIM:270400
HP:0005709	2-3 toe cutaneous syndactyly	4204	MECP2	OMIM:300260
HP:0005709	2-3 toe cutaneous syndactyly	54880	BCOR	OMIM:300166
HP:0005709	2-3 toe cutaneous syndactyly	6134	RPL10	OMIM:300998
HP:0005709	2-3 toe cutaneous syndactyly	8295	TRRAP	OMIM:618454
HP:0005709	2-3 toe cutaneous syndactyly	91179	SCARF2	OMIM:600920
HP:0005709	2-3 toe cutaneous syndactyly	23288	IQCE	OMIM:617642
HP:0005709	2-3 toe cutaneous syndactyly	5587	PRKD1	OMIM:617364
HP:0005709	2-3 toe cutaneous syndactyly	81607	NECTIN4	OMIM:613573
HP:0005709	2-3 toe cutaneous syndactyly	55784	MCTP2	ORPHA:1596
HP:0005709	2-3 toe cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0005709	2-3 toe cutaneous syndactyly	775	CACNA1C	OMIM:620029
HP:0005709	2-3 toe cutaneous syndactyly	8823	FGF16	OMIM:309630
HP:0005709	2-3 toe cutaneous syndactyly	64093	SMOC1	OMIM:206920
HP:0005709	2-3 toe cutaneous syndactyly	10522	DEAF1	OMIM:615828
HP:0005709	2-3 toe cutaneous syndactyly	8626	TP63	OMIM:129400
HP:0005709	2-3 toe cutaneous syndactyly	10079	ATP9A	OMIM:620242
HP:0005709	2-3 toe cutaneous syndactyly	2556	GABRA3	OMIM:301091
HP:0005700	Increased bone density with cystic changes	2778	GNAS	ORPHA:94089
HP:0005700	Increased bone density with cystic changes	8675	STX16	ORPHA:94089
HP:5200123	Abnormal response to social norms	5138	PDE2A	OMIM:619150
HP:5200123	Abnormal response to social norms	4137	MAPT	OMIM:600274
HP:5200123	Abnormal response to social norms	4137	MAPT	OMIM:172700
HP:5200123	Abnormal response to social norms	5663	PSEN1	OMIM:600274
HP:5200123	Abnormal response to social norms	5663	PSEN1	OMIM:172700
HP:5200123	Abnormal response to social norms	4948	OCA2	ORPHA:98794
HP:5200123	Abnormal response to social norms	158	ADSL	OMIM:103050
HP:5200123	Abnormal response to social norms	57459	GATAD2B	OMIM:615074
HP:5200123	Abnormal response to social norms	57459	GATAD2B	ORPHA:363686
HP:5200123	Abnormal response to social norms	284058	KANSL1	ORPHA:363958
HP:5200123	Abnormal response to social norms	284058	KANSL1	ORPHA:363965
HP:5200123	Abnormal response to social norms	388662	SLC6A17	ORPHA:457212
HP:5200123	Abnormal response to social norms	388662	SLC6A17	OMIM:616269
HP:5200123	Abnormal response to social norms	10479	SLC9A6	ORPHA:85278
HP:5200123	Abnormal response to social norms	94005	PIGS	OMIM:618143
HP:5200123	Abnormal response to social norms	1859	DYRK1A	OMIM:614104
HP:5200123	Abnormal response to social norms	6792	CDKL5	ORPHA:3095
HP:5200123	Abnormal response to social norms	6792	CDKL5	ORPHA:505652
HP:5200123	Abnormal response to social norms	22854	NTNG1	ORPHA:3095
HP:5200123	Abnormal response to social norms	9568	GABBR2	ORPHA:3095
HP:5200123	Abnormal response to social norms	4204	MECP2	ORPHA:3095
HP:5200123	Abnormal response to social norms	8243	SMC1A	ORPHA:3095
HP:5200123	Abnormal response to social norms	23102	TBC1D2B	OMIM:619323
HP:5200123	Abnormal response to social norms	1436	CSF1R	OMIM:618476
HP:5200123	Abnormal response to social norms	2902	GRIN1	OMIM:614254
HP:5200123	Abnormal response to social norms	4858	NOVA2	OMIM:618859
HP:5200123	Abnormal response to social norms	80055	PGAP1	OMIM:615802
HP:5200123	Abnormal response to social norms	57194	ATP10A	ORPHA:411515
HP:5200123	Abnormal response to social norms	546	ATRX	OMIM:309580
HP:5200123	Abnormal response to social norms	2737	GLI3	ORPHA:672
HP:5200123	Abnormal response to social norms	2898	GRIK2	OMIM:619580
HP:5200123	Abnormal response to social norms	10785	WDR4	OMIM:618347
HP:5200123	Abnormal response to social norms	9894	TELO2	OMIM:616954
HP:5200123	Abnormal response to social norms	55777	MBD5	ORPHA:228402
HP:5200123	Abnormal response to social norms	6638	SNRPN	OMIM:105830
HP:5200123	Abnormal response to social norms	7337	UBE3A	OMIM:105830
HP:5200123	Abnormal response to social norms	84628	NTNG2	OMIM:618718
HP:5200123	Abnormal response to social norms	3028	HSD17B10	ORPHA:391428
HP:5200123	Abnormal response to social norms	283489	CHAMP1	OMIM:616579
HP:5200123	Abnormal response to social norms	6595	SMARCA2	OMIM:619293
HP:5200123	Abnormal response to social norms	83479	DDX59	OMIM:174300
HP:5200123	Abnormal response to social norms	6804	STX1A	ORPHA:904
HP:5200123	Abnormal response to social norms	7461	CLIP2	ORPHA:904
HP:5200123	Abnormal response to social norms	84277	DNAJC30	ORPHA:904
HP:5200123	Abnormal response to social norms	8468	FKBP6	ORPHA:904
HP:5200123	Abnormal response to social norms	5982	RFC2	ORPHA:904
HP:5200123	Abnormal response to social norms	2969	GTF2I	ORPHA:904
HP:5200123	Abnormal response to social norms	3984	LIMK1	ORPHA:904
HP:5200123	Abnormal response to social norms	9569	GTF2IRD1	ORPHA:904
HP:5200123	Abnormal response to social norms	155382	VPS37D	ORPHA:904
HP:5200123	Abnormal response to social norms	155368	METTL27	ORPHA:904
HP:5200123	Abnormal response to social norms	114049	BUD23	ORPHA:904
HP:5200123	Abnormal response to social norms	7458	EIF4H	ORPHA:904
HP:5200123	Abnormal response to social norms	84163	GTF2IRD2	ORPHA:904
HP:5200123	Abnormal response to social norms	9275	BCL7B	ORPHA:904
HP:5200123	Abnormal response to social norms	26608	TBL2	ORPHA:904
HP:5200123	Abnormal response to social norms	653361	NCF1	ORPHA:904
HP:5200123	Abnormal response to social norms	135886	TMEM270	ORPHA:904
HP:5200123	Abnormal response to social norms	51085	MLXIPL	ORPHA:904
HP:5200123	Abnormal response to social norms	9031	BAZ1B	ORPHA:904
HP:5200123	Abnormal response to social norms	2006	ELN	ORPHA:904
HP:5200123	Abnormal response to social norms	23389	MED13L	ORPHA:369891
HP:5200123	Abnormal response to social norms	5283	PIGH	OMIM:618010
HP:5200123	Abnormal response to social norms	23126	POGZ	OMIM:616364
HP:0007371	Corpus callosum atrophy	1203	CLN5	ORPHA:228360
HP:0007371	Corpus callosum atrophy	10059	DNM1L	ORPHA:98673
HP:0007371	Corpus callosum atrophy	4976	OPA1	ORPHA:98673
HP:0007371	Corpus callosum atrophy	4702	NDUFA8	OMIM:619272
HP:0007371	Corpus callosum atrophy	1436	CSF1R	OMIM:221820
HP:0007371	Corpus callosum atrophy	4099	MAG	OMIM:616680
HP:0007371	Corpus callosum atrophy	84340	GFM2	ORPHA:565624
HP:0007371	Corpus callosum atrophy	10134	BCAP31	ORPHA:369939
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	OMIM:616586
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	ORPHA:447753
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	OMIM:601162
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	ORPHA:447760
HP:0007371	Corpus callosum atrophy	4125	MAN2B1	OMIM:248500
HP:0007371	Corpus callosum atrophy	777	CACNA1E	OMIM:618285
HP:0007371	Corpus callosum atrophy	64207	IRF2BPL	OMIM:618088
HP:0007371	Corpus callosum atrophy	51728	POLR3K	OMIM:619310
HP:0007371	Corpus callosum atrophy	10273	STUB1	ORPHA:412057
HP:0007371	Corpus callosum atrophy	9255	AIMP1	OMIM:260600
HP:0007371	Corpus callosum atrophy	51692	CPSF3	OMIM:619876
HP:0007371	Corpus callosum atrophy	3295	HSD17B4	OMIM:261515
HP:0007371	Corpus callosum atrophy	4191	MDH2	OMIM:617339
HP:0007371	Corpus callosum atrophy	4001	LMNB1	OMIM:169500
HP:0007371	Corpus callosum atrophy	84188	FAR1	ORPHA:447753
HP:0007371	Corpus callosum atrophy	27072	VPS41	OMIM:619389
HP:0007371	Corpus callosum atrophy	91875	TTC5	OMIM:619244
HP:0007371	Corpus callosum atrophy	23065	EMC1	OMIM:616875
HP:0007371	Corpus callosum atrophy	23065	EMC1	ORPHA:480898
HP:0007371	Corpus callosum atrophy	79152	FA2H	ORPHA:171629
HP:0007371	Corpus callosum atrophy	51761	ATP8A2	OMIM:615268
HP:0007371	Corpus callosum atrophy	9409	PEX16	OMIM:614877
HP:0007371	Corpus callosum atrophy	57704	GBA2	ORPHA:320391
HP:0007371	Corpus callosum atrophy	79944	L2HGDH	OMIM:236792
HP:0005715	Flattened knee epiphyses	1298	COL9A2	OMIM:600204
HP:0005716	Lethal skeletal dysplasia	3930	LBR	OMIM:215140
HP:0005716	Lethal skeletal dysplasia	55112	DYNC2I1	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	57560	IFT80	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	57539	WDR35	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	79659	DYNC2H1	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	89891	DYNC2I2	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	1836	SLC26A2	ORPHA:93298
HP:0005716	Lethal skeletal dysplasia	9321	TRIP11	ORPHA:93299
HP:0005716	Lethal skeletal dysplasia	1280	COL2A1	OMIM:151210
HP:0005716	Lethal skeletal dysplasia	5745	PTH1R	ORPHA:50945
HP:0005720	Shortening of all metacarpals	1311	COMP	ORPHA:750
HP:0010487	Small hypothenar eminence	6135	RPL11	OMIM:612562
HP:0010487	Small hypothenar eminence	9775	EIF4A3	OMIM:268305
HP:0010487	Small hypothenar eminence	121512	FGD4	OMIM:609311
HP:0005722	Hyperextensible thumb	8239	USP9X	ORPHA:480880
HP:0007068	Inferior cerebellar vermis hypoplasia	63895	PIEZO2	OMIM:248700
HP:0007068	Inferior cerebellar vermis hypoplasia	3897	L1CAM	OMIM:304100
HP:0007068	Inferior cerebellar vermis hypoplasia	2972	BRF1	ORPHA:444072
HP:0007068	Inferior cerebellar vermis hypoplasia	652	BMP4	OMIM:607932
HP:0007068	Inferior cerebellar vermis hypoplasia	652	BMP4	ORPHA:139471
HP:0007068	Inferior cerebellar vermis hypoplasia	83696	TRAPPC9	OMIM:613192
HP:0007068	Inferior cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:619476
HP:0007068	Inferior cerebellar vermis hypoplasia	80816	ASXL3	OMIM:615485
HP:0007068	Inferior cerebellar vermis hypoplasia	26173	INTS1	OMIM:618571
HP:0007068	Inferior cerebellar vermis hypoplasia	4190	MDH1	OMIM:618959
HP:0007068	Inferior cerebellar vermis hypoplasia	7436	VLDLR	OMIM:224050
HP:0007068	Inferior cerebellar vermis hypoplasia	50628	GEMIN4	OMIM:617913
HP:0007068	Inferior cerebellar vermis hypoplasia	2911	GRM1	OMIM:614831
HP:0007068	Inferior cerebellar vermis hypoplasia	284217	LAMA1	ORPHA:370022
HP:0010585	Small epiphyses	1311	COMP	OMIM:177170
HP:0010585	Small epiphyses	4322	MMP13	OMIM:602111
HP:0010585	Small epiphyses	4322	MMP13	ORPHA:93356
HP:0010585	Small epiphyses	3835	KIF22	OMIM:603546
HP:0010585	Small epiphyses	9131	AIFM1	OMIM:300232
HP:0010585	Small epiphyses	9469	CHST3	ORPHA:263463
HP:0010585	Small epiphyses	9469	CHST3	OMIM:143095
HP:0010585	Small epiphyses	84068	SLC10A7	OMIM:618363
HP:0010585	Small epiphyses	89970	RSPRY1	ORPHA:457395
HP:0010585	Small epiphyses	89970	RSPRY1	OMIM:616723
HP:0010585	Small epiphyses	54187	NANS	OMIM:610442
HP:0010585	Small epiphyses	347734	SLC35B2	OMIM:620269
HP:0010585	Small epiphyses	1280	COL2A1	ORPHA:94068
HP:0010585	Small epiphyses	1280	COL2A1	ORPHA:93346
HP:0010585	Small epiphyses	4796	TONSL	ORPHA:93357
HP:0010585	Small epiphyses	4796	TONSL	OMIM:271510
HP:0010585	Small epiphyses	4148	MATN3	OMIM:608728
HP:0010585	Small epiphyses	4148	MATN3	OMIM:607078
HP:0010585	Small epiphyses	1298	COL9A2	OMIM:600204
HP:0010585	Small epiphyses	9321	TRIP11	OMIM:184260
HP:0010585	Small epiphyses	100151683	RNU4ATAC	OMIM:226960
HP:0010585	Small epiphyses	9451	EIF2AK3	OMIM:226980
HP:0010585	Small epiphyses	1299	COL9A3	OMIM:600969
HP:0010585	Small epiphyses	91147	TMEM67	ORPHA:140976
HP:0010585	Small epiphyses	1297	COL9A1	OMIM:614135
HP:0010585	Small epiphyses	6023	RMRP	OMIM:607095
HP:0010585	Small epiphyses	1301	COL11A1	OMIM:154780
HP:0010585	Small epiphyses	388015	RTL1	ORPHA:96334
HP:0010585	Small epiphyses	8788	DLK1	ORPHA:96334
HP:0010585	Small epiphyses	55384	MEG3	ORPHA:96334
HP:0005731	Cortical irregularity	1277	COL1A1	ORPHA:1310
HP:0005731	Cortical irregularity	1277	COL1A1	OMIM:114000
HP:0005731	Cortical irregularity	285590	SH3PXD2B	OMIM:249420
HP:0005733	Spinal stenosis with reduced interpedicular distance	2261	FGFR3	OMIM:100800
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	5281	PIGF	OMIM:619356
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	415	ARSL	ORPHA:79345
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3756	KCNH1	OMIM:135500
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	59341	TRPV4	ORPHA:85169
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	5744	PTHLH	ORPHA:93387
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3239	HOXD13	ORPHA:93387
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	4920	ROR2	OMIM:113000
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	54101	RIPK4	ORPHA:1234
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	9241	NOG	OMIM:611377
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2239	GPC4	ORPHA:2662
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	57492	ARID1B	OMIM:135900
HP:0008824	Hypoplastic iliac body	10940	POP1	OMIM:617396
HP:0008824	Hypoplastic iliac body	3977	LIFR	OMIM:601559
HP:0008824	Hypoplastic iliac body	2317	FLNB	OMIM:112310
HP:0008824	Hypoplastic iliac body	126792	B3GALT6	OMIM:271640
HP:0040160	Generalized osteoporosis	1277	COL1A1	OMIM:259420
HP:0040160	Generalized osteoporosis	1278	COL1A2	OMIM:259420
HP:0040160	Generalized osteoporosis	1280	COL2A1	OMIM:608805
HP:0040160	Generalized osteoporosis	9469	CHST3	OMIM:245600
HP:0040160	Generalized osteoporosis	26229	B3GAT3	OMIM:245600
HP:0040160	Generalized osteoporosis	26137	ZBTB20	OMIM:259050
HP:0040160	Generalized osteoporosis	6772	STAT1	ORPHA:391487
HP:0040160	Generalized osteoporosis	10043	TOM1	ORPHA:391487
HP:0040160	Generalized osteoporosis	8838	CCN6	ORPHA:1159
HP:0040160	Generalized osteoporosis	55603	TENT5A	OMIM:617952
HP:0040160	Generalized osteoporosis	23314	SATB2	OMIM:612313
HP:0040160	Generalized osteoporosis	875	CBS	OMIM:236200
HP:0040160	Generalized osteoporosis	4221	MEN1	ORPHA:99879
HP:0040160	Generalized osteoporosis	9247	GCM2	ORPHA:99879
HP:0040160	Generalized osteoporosis	79577	CDC73	ORPHA:99879
HP:0040160	Generalized osteoporosis	4000	LMNA	OMIM:176670
HP:0040160	Generalized osteoporosis	121340	SP7	OMIM:613849
HP:0040160	Generalized osteoporosis	4323	MMP14	OMIM:277950
HP:0005745	Congenital foot contractures	84340	GFM2	ORPHA:565624
HP:0005745	Congenital foot contractures	55906	ZC4H2	ORPHA:3454
HP:0005745	Congenital foot contractures	55906	ZC4H2	OMIM:314580
HP:0005746	Osteosclerosis of the base of the skull	10312	TCIRG1	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	1186	CLCN7	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	9842	PLEKHM1	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	23516	SLC39A14	OMIM:144755
HP:0005750	Lower-limb joint contracture	6445	SGCG	ORPHA:353
HP:0005750	Lower-limb joint contracture	23299	BICD2	OMIM:615290
HP:0005750	Lower-limb joint contracture	55906	ZC4H2	OMIM:301041
HP:0005750	Lower-limb joint contracture	2273	FHL1	OMIM:300696
HP:0005750	Lower-limb joint contracture	2273	FHL1	OMIM:300695
HP:0005750	Lower-limb joint contracture	2273	FHL1	ORPHA:98863
HP:0005750	Lower-limb joint contracture	7273	TTN	OMIM:603689
HP:0005750	Lower-limb joint contracture	79147	FKRP	OMIM:606612
HP:0005750	Lower-limb joint contracture	79147	FKRP	ORPHA:370980
HP:0005750	Lower-limb joint contracture	79147	FKRP	OMIM:607155
HP:0005750	Lower-limb joint contracture	51651	PTRH2	OMIM:616263
HP:0005750	Lower-limb joint contracture	51651	PTRH2	ORPHA:456312
HP:0005750	Lower-limb joint contracture	54888	NSUN2	OMIM:611091
HP:0005750	Lower-limb joint contracture	3094	HINT1	ORPHA:324442
HP:0005750	Lower-limb joint contracture	339855	KY	OMIM:617114
HP:0005750	Lower-limb joint contracture	23516	SLC39A14	OMIM:617013
HP:0005750	Lower-limb joint contracture	4010	LMX1B	ORPHA:2614
HP:0005750	Lower-limb joint contracture	79912	PYROXD1	OMIM:617258
HP:0005750	Lower-limb joint contracture	1756	DMD	OMIM:310200
HP:0005750	Lower-limb joint contracture	291	SLC25A4	OMIM:615418
HP:0005750	Lower-limb joint contracture	2010	EMD	OMIM:310300
HP:0005750	Lower-limb joint contracture	2010	EMD	ORPHA:98863
HP:0005750	Lower-limb joint contracture	57679	ALS2	OMIM:607225
HP:0005750	Lower-limb joint contracture	6442	SGCA	ORPHA:62
HP:0005750	Lower-limb joint contracture	4556	MT-TE	ORPHA:2596
HP:0005750	Lower-limb joint contracture	9990	SLC12A6	OMIM:620068
HP:0005750	Lower-limb joint contracture	1292	COL6A2	OMIM:255600
HP:0005750	Lower-limb joint contracture	1292	COL6A2	ORPHA:610
HP:0005750	Lower-limb joint contracture	9499	MYOT	OMIM:609200
HP:0005750	Lower-limb joint contracture	10060	ABCC9	OMIM:619719
HP:0005750	Lower-limb joint contracture	4000	LMNA	OMIM:181350
HP:0005750	Lower-limb joint contracture	4000	LMNA	OMIM:613205
HP:0005750	Lower-limb joint contracture	4000	LMNA	ORPHA:98855
HP:0005750	Lower-limb joint contracture	4000	LMNA	ORPHA:98853
HP:0005750	Lower-limb joint contracture	5339	PLEC	ORPHA:254361
HP:0005750	Lower-limb joint contracture	3714	JAG2	OMIM:619566
HP:0005750	Lower-limb joint contracture	113179	ADAT3	ORPHA:363528
HP:0005750	Lower-limb joint contracture	51506	UFC1	OMIM:618076
HP:0005750	Lower-limb joint contracture	2705	GJB1	OMIM:302800
HP:0005750	Lower-limb joint contracture	58	ACTA1	OMIM:616852
HP:0005750	Lower-limb joint contracture	26090	ABHD12	OMIM:612674
HP:0005750	Lower-limb joint contracture	2218	FKTN	ORPHA:370980
HP:0005750	Lower-limb joint contracture	729920	CRPPA	ORPHA:370980
HP:0005750	Lower-limb joint contracture	10585	POMT1	ORPHA:370980
HP:0005750	Lower-limb joint contracture	3265	HRAS	OMIM:218040
HP:0005750	Lower-limb joint contracture	55768	NGLY1	ORPHA:404454
HP:0005750	Lower-limb joint contracture	2799	GNS	OMIM:252940
HP:0005750	Lower-limb joint contracture	4976	OPA1	OMIM:210000
HP:0005750	Lower-limb joint contracture	9215	LARGE1	OMIM:608840
HP:0005750	Lower-limb joint contracture	1303	COL12A1	ORPHA:610
HP:0005750	Lower-limb joint contracture	1291	COL6A1	ORPHA:610
HP:0005750	Lower-limb joint contracture	1293	COL6A3	ORPHA:610
HP:0005750	Lower-limb joint contracture	79188	TMEM43	ORPHA:98853
HP:0005750	Lower-limb joint contracture	23345	SYNE1	ORPHA:98853
HP:0005750	Lower-limb joint contracture	23224	SYNE2	ORPHA:98853
HP:0005750	Lower-limb joint contracture	1832	DSP	ORPHA:158687
HP:0005750	Lower-limb joint contracture	3728	JUP	ORPHA:158687
HP:0005750	Lower-limb joint contracture	2261	FGFR3	OMIM:610474
HP:0005750	Lower-limb joint contracture	10216	PRG4	ORPHA:2848
HP:0005750	Lower-limb joint contracture	84295	PHF6	ORPHA:127
HP:0005750	Lower-limb joint contracture	825	CAPN3	ORPHA:267
HP:0005750	Lower-limb joint contracture	215	ABCD1	ORPHA:139396
HP:0005750	Lower-limb joint contracture	203859	ANO5	ORPHA:206549
HP:0005750	Lower-limb joint contracture	9653	HS2ST1	OMIM:619194
HP:0005750	Lower-limb joint contracture	274	BIN1	ORPHA:169186
HP:0005750	Lower-limb joint contracture	10290	SPEG	ORPHA:169186
HP:0005750	Lower-limb joint contracture	10290	SPEG	OMIM:615959
HP:0005750	Lower-limb joint contracture	6261	RYR1	ORPHA:169186
HP:0005750	Lower-limb joint contracture	59341	TRPV4	OMIM:600175
HP:0005750	Lower-limb joint contracture	57190	SELENON	ORPHA:97244
HP:0005750	Lower-limb joint contracture	57190	SELENON	ORPHA:2020
HP:0005750	Lower-limb joint contracture	4593	MUSK	OMIM:208150
HP:0005750	Lower-limb joint contracture	29895	MYL11	OMIM:619110
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	ORPHA:353298
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	OMIM:616651
HP:0005750	Lower-limb joint contracture	6885	MAP3K7	OMIM:617137
HP:0005750	Lower-limb joint contracture	9894	TELO2	ORPHA:488642
HP:0005750	Lower-limb joint contracture	285175	UNC80	OMIM:616801
HP:0005750	Lower-limb joint contracture	285175	UNC80	ORPHA:371364
HP:0005750	Lower-limb joint contracture	259232	NALCN	ORPHA:371364
HP:0005750	Lower-limb joint contracture	259232	NALCN	OMIM:616266
HP:0005750	Lower-limb joint contracture	84992	PIGY	OMIM:616809
HP:0005750	Lower-limb joint contracture	64324	NSD1	ORPHA:821
HP:0005750	Lower-limb joint contracture	29072	SETD2	ORPHA:821
HP:0005750	Lower-limb joint contracture	10297	APC2	ORPHA:821
HP:0005750	Lower-limb joint contracture	2617	GARS1	OMIM:619042
HP:0005750	Lower-limb joint contracture	26137	ZBTB20	OMIM:259050
HP:0005750	Lower-limb joint contracture	26137	ZBTB20	ORPHA:3042
HP:0005750	Lower-limb joint contracture	1836	SLC26A2	OMIM:222600
HP:0005750	Lower-limb joint contracture	6536	SLC6A9	OMIM:617301
HP:0005750	Lower-limb joint contracture	23522	KAT6B	ORPHA:85201
HP:0005750	Lower-limb joint contracture	23522	KAT6B	OMIM:606170
HP:0005750	Lower-limb joint contracture	163175	LGI4	OMIM:617468
HP:0005750	Lower-limb joint contracture	2201	FBN2	OMIM:121050
HP:0005750	Lower-limb joint contracture	60681	FKBP10	OMIM:259450
HP:0005750	Lower-limb joint contracture	4773	NFATC2	OMIM:620232
HP:0005750	Lower-limb joint contracture	1161	ERCC8	OMIM:216400
HP:0005750	Lower-limb joint contracture	7169	TPM2	OMIM:108120
HP:0005750	Lower-limb joint contracture	7169	TPM2	ORPHA:2020
HP:0005750	Lower-limb joint contracture	87178	PNPT1	ORPHA:319514
HP:0005750	Lower-limb joint contracture	79158	GNPTAB	ORPHA:576
HP:0005750	Lower-limb joint contracture	5745	PTH1R	OMIM:156400
HP:0005750	Lower-limb joint contracture	84068	SLC10A7	OMIM:618363
HP:0005750	Lower-limb joint contracture	2157	F8	ORPHA:169805
HP:0005750	Lower-limb joint contracture	7317	UBA1	ORPHA:1145
HP:0005750	Lower-limb joint contracture	55681	SCYL2	ORPHA:1143
HP:0005750	Lower-limb joint contracture	84570	COL25A1	ORPHA:1143
HP:0005750	Lower-limb joint contracture	57222	ERGIC1	ORPHA:1143
HP:0005750	Lower-limb joint contracture	7138	TNNT1	ORPHA:98902
HP:0005750	Lower-limb joint contracture	7138	TNNT1	OMIM:605355
HP:0005750	Lower-limb joint contracture	4313	MMP2	OMIM:259600
HP:0005750	Lower-limb joint contracture	1280	COL2A1	OMIM:156550
HP:0005750	Lower-limb joint contracture	4633	MYL2	ORPHA:2020
HP:0005750	Lower-limb joint contracture	3679	ITGA7	ORPHA:2020
HP:0005750	Lower-limb joint contracture	9200	HACD1	ORPHA:2020
HP:0005750	Lower-limb joint contracture	7170	TPM3	ORPHA:2020
HP:0005750	Lower-limb joint contracture	51776	MAP3K20	ORPHA:2020
HP:0005750	Lower-limb joint contracture	5297	PI4KA	OMIM:619621
HP:0005750	Lower-limb joint contracture	54681	P4HTM	OMIM:618493
HP:0005750	Lower-limb joint contracture	5277	PIGA	OMIM:300868
HP:0005750	Lower-limb joint contracture	6023	RMRP	OMIM:607095
HP:0005750	Lower-limb joint contracture	2783	GNB2	OMIM:619503
HP:0005750	Lower-limb joint contracture	4632	MYL1	OMIM:618414
HP:0005750	Lower-limb joint contracture	84340	GFM2	ORPHA:565624
HP:0005750	Lower-limb joint contracture	60386	SLC25A19	OMIM:613710
HP:0005750	Lower-limb joint contracture	2521	FUS	ORPHA:300605
HP:0005750	Lower-limb joint contracture	80208	SPG11	ORPHA:300605
HP:0005750	Lower-limb joint contracture	10280	SIGMAR1	ORPHA:300605
HP:0005750	Lower-limb joint contracture	10558	SPTLC1	ORPHA:300605
HP:0005750	Lower-limb joint contracture	80232	WDR26	ORPHA:513456
HP:0005750	Lower-limb joint contracture	6134	RPL10	ORPHA:459070
HP:0005750	Lower-limb joint contracture	3767	KCNJ11	ORPHA:99885
HP:0005750	Lower-limb joint contracture	6774	STAT3	ORPHA:99885
HP:0005750	Lower-limb joint contracture	2645	GCK	ORPHA:99885
HP:0005750	Lower-limb joint contracture	3651	PDX1	ORPHA:99885
HP:0005750	Lower-limb joint contracture	6833	ABCC8	ORPHA:99885
HP:0005750	Lower-limb joint contracture	3630	INS	ORPHA:99885
HP:0005750	Lower-limb joint contracture	139285	AMER1	OMIM:300373
HP:0005750	Lower-limb joint contracture	11160	ERLIN2	ORPHA:209951
HP:0005750	Lower-limb joint contracture	55315	SLC29A3	OMIM:602782
HP:0005750	Lower-limb joint contracture	2200	FBN1	OMIM:608328
HP:0005750	Lower-limb joint contracture	23556	PIGN	ORPHA:280633
HP:0005750	Lower-limb joint contracture	22978	NT5C2	ORPHA:320396
HP:0005750	Lower-limb joint contracture	64127	NOD2	OMIM:186580
HP:0005750	Lower-limb joint contracture	4621	MYH3	OMIM:193700
HP:0005750	Lower-limb joint contracture	23102	TBC1D2B	OMIM:619323
HP:0005750	Lower-limb joint contracture	3977	LIFR	OMIM:601559
HP:0005750	Lower-limb joint contracture	7043	TGFB3	OMIM:615582
HP:0005750	Lower-limb joint contracture	1984	EIF5A	OMIM:619376
HP:0005750	Lower-limb joint contracture	5696	PSMB8	OMIM:256040
HP:0005750	Lower-limb joint contracture	3339	HSPG2	OMIM:255800
HP:0005750	Lower-limb joint contracture	3339	HSPG2	ORPHA:800
HP:0005750	Lower-limb joint contracture	2067	ERCC1	OMIM:610758
HP:0005750	Lower-limb joint contracture	4921	DDR2	OMIM:271665
HP:0005750	Lower-limb joint contracture	23141	ANKLE2	OMIM:616681
HP:0005750	Lower-limb joint contracture	8506	CNTNAP1	OMIM:616286
HP:0005750	Lower-limb joint contracture	5352	PLOD2	OMIM:609220
HP:0005750	Lower-limb joint contracture	6840	SVIL	OMIM:619040
HP:0005750	Lower-limb joint contracture	91179	SCARF2	OMIM:600920
HP:0005750	Lower-limb joint contracture	4649	MYO9A	OMIM:618198
HP:0005750	Lower-limb joint contracture	6616	SNAP25	OMIM:616330
HP:0005750	Lower-limb joint contracture	29925	GMPPB	ORPHA:353327
HP:0005750	Lower-limb joint contracture	2673	GFPT1	ORPHA:353327
HP:0005750	Lower-limb joint contracture	1798	DPAGT1	ORPHA:353327
HP:0005750	Lower-limb joint contracture	85365	ALG2	ORPHA:353327
HP:0005750	Lower-limb joint contracture	85365	ALG2	OMIM:616228
HP:0005750	Lower-limb joint contracture	199857	ALG14	ORPHA:353327
HP:0005750	Lower-limb joint contracture	1146	CHRNG	OMIM:265000
HP:0005750	Lower-limb joint contracture	2316	FLNA	OMIM:305620
HP:0005750	Lower-limb joint contracture	23321	TRIM2	OMIM:615490
HP:0005750	Lower-limb joint contracture	92255	LMBRD2	OMIM:619694
HP:0005750	Lower-limb joint contracture	29968	PSAT1	ORPHA:284417
HP:0005750	Lower-limb joint contracture	127833	SYT2	OMIM:619461
HP:0005750	Lower-limb joint contracture	23327	NEDD4L	OMIM:617201
HP:0005750	Lower-limb joint contracture	1954	MEGF8	OMIM:614976
HP:0005750	Lower-limb joint contracture	3930	LBR	OMIM:618019
HP:0005750	Lower-limb joint contracture	79644	SRD5A3	OMIM:612713
HP:0005750	Lower-limb joint contracture	9531	BAG3	OMIM:612954
HP:0005750	Lower-limb joint contracture	2074	ERCC6	OMIM:214150
HP:0005750	Lower-limb joint contracture	9051	PSTPIP1	OMIM:604416
HP:0005750	Lower-limb joint contracture	10804	GJB6	ORPHA:477
HP:0005750	Lower-limb joint contracture	2706	GJB2	ORPHA:477
HP:0005750	Lower-limb joint contracture	2706	GJB2	OMIM:148210
HP:0005750	Lower-limb joint contracture	9791	PTDSS1	OMIM:151050
HP:0005750	Lower-limb joint contracture	63895	PIEZO2	OMIM:114300
HP:0005750	Lower-limb joint contracture	25914	RTTN	ORPHA:468631
HP:0005750	Lower-limb joint contracture	157570	ESCO2	ORPHA:3103
HP:0005750	Lower-limb joint contracture	157570	ESCO2	OMIM:268300
HP:0005750	Lower-limb joint contracture	10613	ERLIN1	ORPHA:401785
HP:0005750	Lower-limb joint contracture	2222	FDFT1	OMIM:618156
HP:0005750	Lower-limb joint contracture	83636	C19orf12	OMIM:615043
HP:0005750	Lower-limb joint contracture	1376	CPT2	OMIM:608836
HP:0005750	Lower-limb joint contracture	5296	PIK3R2	OMIM:603387
HP:0005750	Lower-limb joint contracture	23387	SIK3	OMIM:618162
HP:0005750	Lower-limb joint contracture	8813	DPM1	OMIM:608799
HP:0005750	Lower-limb joint contracture	8813	DPM1	ORPHA:79322
HP:0005750	Lower-limb joint contracture	6572	SLC18A3	OMIM:617239
HP:0005750	Lower-limb joint contracture	6389	SDHA	ORPHA:3208
HP:0005750	Lower-limb joint contracture	6390	SDHB	ORPHA:3208
HP:0005750	Lower-limb joint contracture	6392	SDHD	ORPHA:3208
HP:0005750	Lower-limb joint contracture	644096	SDHAF1	ORPHA:3208
HP:0005750	Lower-limb joint contracture	1073	CFL2	OMIM:610687
HP:0005750	Lower-limb joint contracture	64116	SLC39A8	ORPHA:468699
HP:0005750	Lower-limb joint contracture	91137	SLC25A46	OMIM:619303
HP:0005750	Lower-limb joint contracture	1140	CHRNB1	OMIM:616313
HP:0005750	Lower-limb joint contracture	529	ATP6V1E1	OMIM:617402
HP:0005750	Lower-limb joint contracture	8449	DHX16	OMIM:618733
HP:0005750	Lower-limb joint contracture	2737	GLI3	ORPHA:93322
HP:0005750	Lower-limb joint contracture	1859	DYRK1A	ORPHA:464311
HP:0005750	Lower-limb joint contracture	1605	DAG1	OMIM:613818
HP:0005750	Lower-limb joint contracture	1605	DAG1	ORPHA:280333
HP:0005750	Lower-limb joint contracture	55958	KLHL9	ORPHA:399081
HP:0005750	Lower-limb joint contracture	84876	ORAI1	OMIM:615883
HP:0005750	Lower-limb joint contracture	6509	SLC1A4	OMIM:616657
HP:0005750	Lower-limb joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0005750	Lower-limb joint contracture	210	ALAD	ORPHA:100924
HP:0005750	Lower-limb joint contracture	513	ATP5F1D	OMIM:618120
HP:0005750	Lower-limb joint contracture	57731	SPTBN4	OMIM:617519
HP:0005750	Lower-limb joint contracture	497661	C18orf32	OMIM:619985
HP:0005750	Lower-limb joint contracture	4703	NEB	ORPHA:399103
HP:0005750	Lower-limb joint contracture	7407	VARS1	OMIM:617802
HP:0005750	Lower-limb joint contracture	9896	FIG4	OMIM:611228
HP:0005750	Lower-limb joint contracture	65055	REEP1	OMIM:620011
HP:0005750	Lower-limb joint contracture	51305	KCNK9	ORPHA:166108
HP:0005750	Lower-limb joint contracture	4604	MYBPC1	OMIM:614335
HP:0005750	Lower-limb joint contracture	4312	MMP1	ORPHA:79408
HP:0005750	Lower-limb joint contracture	1294	COL7A1	ORPHA:79408
HP:0005750	Lower-limb joint contracture	2972	BRF1	ORPHA:444072
HP:0005750	Lower-limb joint contracture	23259	DDHD2	ORPHA:320380
HP:0005750	Lower-limb joint contracture	54828	BCAS3	OMIM:619641
HP:0005750	Lower-limb joint contracture	1235	CCR6	ORPHA:220402
HP:0005750	Lower-limb joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0005750	Lower-limb joint contracture	1490	CCN2	ORPHA:220402
HP:0005750	Lower-limb joint contracture	3663	IRF5	ORPHA:220402
HP:0005750	Lower-limb joint contracture	857	CAV1	ORPHA:220402
HP:0005750	Lower-limb joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0005750	Lower-limb joint contracture	2072	ERCC4	ORPHA:90321
HP:0005750	Lower-limb joint contracture	54880	BCOR	ORPHA:2712
HP:0005750	Lower-limb joint contracture	10526	IPO8	OMIM:619472
HP:0005750	Lower-limb joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0010743	Short metatarsal	3094	HINT1	ORPHA:324442
HP:0010743	Short metatarsal	9759	HDAC4	OMIM:600430
HP:0010743	Short metatarsal	5191	PEX7	OMIM:266500
HP:0010743	Short metatarsal	5264	PHYH	OMIM:266500
HP:0010743	Short metatarsal	94005	PIGS	OMIM:618143
HP:0010743	Short metatarsal	89970	RSPRY1	ORPHA:457395
HP:0010743	Short metatarsal	89970	RSPRY1	OMIM:616723
HP:0010743	Short metatarsal	54585	LZTFL1	OMIM:615994
HP:0010743	Short metatarsal	55628	ZNF407	OMIM:619557
HP:0010743	Short metatarsal	2146	EZH2	OMIM:277590
HP:0010743	Short metatarsal	79633	FAT4	OMIM:615546
HP:0010743	Short metatarsal	8642	DCHS1	OMIM:601390
HP:0010743	Short metatarsal	54101	RIPK4	ORPHA:1401
HP:0010743	Short metatarsal	3239	HOXD13	ORPHA:93409
HP:0010743	Short metatarsal	6925	TCF4	OMIM:610954
HP:0010743	Short metatarsal	9578	CDC42BPB	OMIM:619841
HP:0010743	Short metatarsal	2778	GNAS	ORPHA:79443
HP:0010743	Short metatarsal	2778	GNAS	ORPHA:79444
HP:0010743	Short metatarsal	23288	IQCE	OMIM:617642
HP:0010743	Short metatarsal	341208	HEPHL1	OMIM:261990
HP:0010743	Short metatarsal	2033	EP300	OMIM:613684
HP:0010743	Short metatarsal	3209	HOXA13	OMIM:140000
HP:0010743	Short metatarsal	3209	HOXA13	ORPHA:2438
HP:0010743	Short metatarsal	57020	VPS35L	OMIM:619135
HP:0010743	Short metatarsal	1280	COL2A1	OMIM:271700
HP:0010743	Short metatarsal	1280	COL2A1	OMIM:609162
HP:0010743	Short metatarsal	1280	COL2A1	ORPHA:1856
HP:0010743	Short metatarsal	5573	PRKAR1A	ORPHA:950
HP:0010743	Short metatarsal	5573	PRKAR1A	ORPHA:280651
HP:0010743	Short metatarsal	5573	PRKAR1A	OMIM:101800
HP:0010743	Short metatarsal	5144	PDE4D	ORPHA:950
HP:0010743	Short metatarsal	5144	PDE4D	ORPHA:280651
HP:0010743	Short metatarsal	5144	PDE4D	ORPHA:439822
HP:0010743	Short metatarsal	5144	PDE4D	OMIM:614613
HP:0010743	Short metatarsal	64374	SIL1	OMIM:248800
HP:0010743	Short metatarsal	64840	PORCN	OMIM:305600
HP:0010743	Short metatarsal	4882	NPR2	OMIM:602875
HP:0010743	Short metatarsal	145173	B3GLCT	OMIM:261540
HP:0010743	Short metatarsal	6885	MAP3K7	OMIM:617137
HP:0010743	Short metatarsal	6885	MAP3K7	ORPHA:1826
HP:0010743	Short metatarsal	5593	PRKG2	OMIM:619636
HP:0010743	Short metatarsal	59341	TRPV4	ORPHA:93314
HP:0010743	Short metatarsal	25839	COG4	OMIM:618150
HP:0010743	Short metatarsal	2200	FBN1	OMIM:608328
HP:0010743	Short metatarsal	6299	SALL1	OMIM:107480
HP:0010743	Short metatarsal	8200	GDF5	OMIM:228900
HP:0010743	Short metatarsal	8200	GDF5	ORPHA:93384
HP:0010743	Short metatarsal	5744	PTHLH	OMIM:613382
HP:0010743	Short metatarsal	5744	PTHLH	ORPHA:93387
HP:0010743	Short metatarsal	51098	IFT52	OMIM:617102
HP:0010743	Short metatarsal	1836	SLC26A2	ORPHA:93307
HP:0010743	Short metatarsal	658	BMPR1B	ORPHA:93384
HP:0010743	Short metatarsal	2316	FLNA	OMIM:304120
HP:0010743	Short metatarsal	2316	FLNA	ORPHA:1826
HP:0010743	Short metatarsal	124583	CANT1	OMIM:251450
HP:0010743	Short metatarsal	54808	DYM	OMIM:223800
HP:0010743	Short metatarsal	54496	PRMT7	OMIM:617157
HP:0010743	Short metatarsal	2260	FGFR1	OMIM:166250
HP:0010743	Short metatarsal	2263	FGFR2	ORPHA:1540
HP:0010743	Short metatarsal	3759	KCNJ2	OMIM:170390
HP:0010743	Short metatarsal	22856	CHSY1	OMIM:605282
HP:0010743	Short metatarsal	2317	FLNB	OMIM:108720
HP:0010743	Short metatarsal	2317	FLNB	OMIM:150250
HP:0010743	Short metatarsal	157680	VPS13B	OMIM:216550
HP:0010743	Short metatarsal	9896	FIG4	OMIM:216340
HP:0010743	Short metatarsal	6595	SMARCA2	OMIM:601358
HP:0010743	Short metatarsal	9742	IFT140	OMIM:266920
HP:0010743	Short metatarsal	83452	RAB33B	OMIM:615222
HP:0010743	Short metatarsal	6736	SRY	ORPHA:1772
HP:0010743	Short metatarsal	7227	TRPS1	OMIM:190350
HP:0010743	Short metatarsal	7227	TRPS1	OMIM:190351
HP:0010743	Short metatarsal	7227	TRPS1	ORPHA:77258
HP:0010743	Short metatarsal	90417	KNSTRN	OMIM:613328
HP:0010743	Short metatarsal	5293	PIK3CD	OMIM:613328
HP:0010743	Short metatarsal	25886	POC1A	OMIM:614813
HP:0010743	Short metatarsal	3516	RBPJ	OMIM:614814
HP:0100700	Abnormal arachnoid mater morphology	2303	FOXC2	ORPHA:33001
HP:0100700	Abnormal arachnoid mater morphology	22827	PUF60	ORPHA:508498
HP:0100700	Abnormal arachnoid mater morphology	79971	WLS	OMIM:619648
HP:0100700	Abnormal arachnoid mater morphology	79583	TMEM231	ORPHA:2752
HP:0100700	Abnormal arachnoid mater morphology	91801	ALKBH8	OMIM:618504
HP:0100700	Abnormal arachnoid mater morphology	83480	PUS3	OMIM:617051
HP:0100700	Abnormal arachnoid mater morphology	83480	PUS3	ORPHA:488627
HP:0100700	Abnormal arachnoid mater morphology	29899	GPSM2	OMIM:604213
HP:0100700	Abnormal arachnoid mater morphology	65250	CPLANE1	OMIM:277170
HP:0100700	Abnormal arachnoid mater morphology	3747	KCNC2	OMIM:619913
HP:0100700	Abnormal arachnoid mater morphology	100151683	RNU4ATAC	OMIM:210710
HP:0100700	Abnormal arachnoid mater morphology	4897	NRCAM	OMIM:619833
HP:0100700	Abnormal arachnoid mater morphology	6323	SCN1A	OMIM:619317
HP:0100700	Abnormal arachnoid mater morphology	3703	STT3A	OMIM:619714
HP:0100700	Abnormal arachnoid mater morphology	85358	SHANK3	OMIM:606232
HP:0100700	Abnormal arachnoid mater morphology	85358	SHANK3	ORPHA:48652
HP:0100700	Abnormal arachnoid mater morphology	25914	RTTN	ORPHA:468631
HP:0100700	Abnormal arachnoid mater morphology	55593	OTUD5	OMIM:301056
HP:0100700	Abnormal arachnoid mater morphology	10733	PLK4	OMIM:616171
HP:0100700	Abnormal arachnoid mater morphology	4854	NOTCH3	OMIM:130720
HP:0100700	Abnormal arachnoid mater morphology	5159	PDGFRB	OMIM:601812
HP:0100700	Abnormal arachnoid mater morphology	57169	ZNFX1	OMIM:619644
HP:0100700	Abnormal arachnoid mater morphology	6651	SON	OMIM:617140
HP:0100700	Abnormal arachnoid mater morphology	6651	SON	ORPHA:500150
HP:0100700	Abnormal arachnoid mater morphology	113179	ADAT3	ORPHA:363528
HP:0100700	Abnormal arachnoid mater morphology	113179	ADAT3	OMIM:615286
HP:0100700	Abnormal arachnoid mater morphology	28952	CCDC22	OMIM:300963
HP:0100700	Abnormal arachnoid mater morphology	8481	OFD1	OMIM:311200
HP:0100700	Abnormal arachnoid mater morphology	25782	RAB3GAP2	OMIM:212720
HP:0100700	Abnormal arachnoid mater morphology	51726	DNAJB11	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	23193	GANAB	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	5310	PKD1	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	5311	PKD2	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	29880	ALG5	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	9742	IFT140	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	79796	ALG9	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	80114	BICC1	ORPHA:730
HP:0100700	Abnormal arachnoid mater morphology	4677	NARS1	OMIM:619091
HP:0100700	Abnormal arachnoid mater morphology	64324	NSD1	OMIM:117550
HP:0100700	Abnormal arachnoid mater morphology	537	ATP6AP1	OMIM:300972
HP:0100700	Abnormal arachnoid mater morphology	5528	PPP2R5D	ORPHA:457279
HP:0100700	Abnormal arachnoid mater morphology	10463	SLC30A9	OMIM:617595
HP:0100700	Abnormal arachnoid mater morphology	6326	SCN2A	OMIM:618924
HP:0100700	Abnormal arachnoid mater morphology	131118	DNAJC19	ORPHA:66634
HP:0100700	Abnormal arachnoid mater morphology	63929	XPNPEP3	OMIM:613159
HP:0100700	Abnormal arachnoid mater morphology	51322	WAC	ORPHA:466950
HP:0100700	Abnormal arachnoid mater morphology	4750	NEK1	ORPHA:2751
HP:0100700	Abnormal arachnoid mater morphology	3265	HRAS	ORPHA:2874
HP:0100700	Abnormal arachnoid mater morphology	1717	DHCR7	OMIM:270400
HP:0100700	Abnormal arachnoid mater morphology	23258	DENND5A	OMIM:617281
HP:0100700	Abnormal arachnoid mater morphology	26278	SACS	ORPHA:98
HP:0100700	Abnormal arachnoid mater morphology	3845	KRAS	OMIM:600268
HP:0100700	Abnormal arachnoid mater morphology	25970	SH2B1	ORPHA:261197
HP:0100700	Abnormal arachnoid mater morphology	5297	PI4KA	OMIM:619621
HP:0100700	Abnormal arachnoid mater morphology	4893	NRAS	OMIM:249400
HP:0100700	Abnormal arachnoid mater morphology	10682	EBP	ORPHA:35173
HP:0100700	Abnormal arachnoid mater morphology	2260	FGFR1	OMIM:613001
HP:0100700	Abnormal arachnoid mater morphology	196528	ARID2	OMIM:617808
HP:0100700	Abnormal arachnoid mater morphology	2263	FGFR2	OMIM:101200
HP:0100702	Arachnoid cyst	2303	FOXC2	ORPHA:33001
HP:0100702	Arachnoid cyst	22827	PUF60	ORPHA:508498
HP:0100702	Arachnoid cyst	79971	WLS	OMIM:619648
HP:0100702	Arachnoid cyst	79583	TMEM231	ORPHA:2752
HP:0100702	Arachnoid cyst	83480	PUS3	OMIM:617051
HP:0100702	Arachnoid cyst	83480	PUS3	ORPHA:488627
HP:0100702	Arachnoid cyst	29899	GPSM2	OMIM:604213
HP:0100702	Arachnoid cyst	65250	CPLANE1	OMIM:277170
HP:0100702	Arachnoid cyst	3747	KCNC2	OMIM:619913
HP:0100702	Arachnoid cyst	100151683	RNU4ATAC	OMIM:210710
HP:0100702	Arachnoid cyst	4897	NRCAM	OMIM:619833
HP:0100702	Arachnoid cyst	6323	SCN1A	OMIM:619317
HP:0100702	Arachnoid cyst	3703	STT3A	OMIM:619714
HP:0100702	Arachnoid cyst	85358	SHANK3	OMIM:606232
HP:0100702	Arachnoid cyst	85358	SHANK3	ORPHA:48652
HP:0100702	Arachnoid cyst	25914	RTTN	ORPHA:468631
HP:0100702	Arachnoid cyst	55593	OTUD5	OMIM:301056
HP:0100702	Arachnoid cyst	10733	PLK4	OMIM:616171
HP:0100702	Arachnoid cyst	4854	NOTCH3	OMIM:130720
HP:0100702	Arachnoid cyst	5159	PDGFRB	OMIM:601812
HP:0100702	Arachnoid cyst	57169	ZNFX1	OMIM:619644
HP:0100702	Arachnoid cyst	6651	SON	OMIM:617140
HP:0100702	Arachnoid cyst	6651	SON	ORPHA:500150
HP:0100702	Arachnoid cyst	113179	ADAT3	ORPHA:363528
HP:0100702	Arachnoid cyst	113179	ADAT3	OMIM:615286
HP:0100702	Arachnoid cyst	28952	CCDC22	OMIM:300963
HP:0100702	Arachnoid cyst	8481	OFD1	OMIM:311200
HP:0100702	Arachnoid cyst	25782	RAB3GAP2	OMIM:212720
HP:0100702	Arachnoid cyst	51726	DNAJB11	ORPHA:730
HP:0100702	Arachnoid cyst	23193	GANAB	ORPHA:730
HP:0100702	Arachnoid cyst	5310	PKD1	ORPHA:730
HP:0100702	Arachnoid cyst	5311	PKD2	ORPHA:730
HP:0100702	Arachnoid cyst	29880	ALG5	ORPHA:730
HP:0100702	Arachnoid cyst	9742	IFT140	ORPHA:730
HP:0100702	Arachnoid cyst	79796	ALG9	ORPHA:730
HP:0100702	Arachnoid cyst	80114	BICC1	ORPHA:730
HP:0100702	Arachnoid cyst	4677	NARS1	OMIM:619091
HP:0100702	Arachnoid cyst	64324	NSD1	OMIM:117550
HP:0100702	Arachnoid cyst	537	ATP6AP1	OMIM:300972
HP:0100702	Arachnoid cyst	5528	PPP2R5D	ORPHA:457279
HP:0100702	Arachnoid cyst	10463	SLC30A9	OMIM:617595
HP:0100702	Arachnoid cyst	6326	SCN2A	OMIM:618924
HP:0100702	Arachnoid cyst	131118	DNAJC19	ORPHA:66634
HP:0100702	Arachnoid cyst	63929	XPNPEP3	OMIM:613159
HP:0100702	Arachnoid cyst	51322	WAC	ORPHA:466950
HP:0100702	Arachnoid cyst	4750	NEK1	ORPHA:2751
HP:0100702	Arachnoid cyst	3265	HRAS	ORPHA:2874
HP:0100702	Arachnoid cyst	1717	DHCR7	OMIM:270400
HP:0100702	Arachnoid cyst	23258	DENND5A	OMIM:617281
HP:0100702	Arachnoid cyst	26278	SACS	ORPHA:98
HP:0100702	Arachnoid cyst	3845	KRAS	OMIM:600268
HP:0100702	Arachnoid cyst	25970	SH2B1	ORPHA:261197
HP:0100702	Arachnoid cyst	5297	PI4KA	OMIM:619621
HP:0100702	Arachnoid cyst	4893	NRAS	OMIM:249400
HP:0100702	Arachnoid cyst	10682	EBP	ORPHA:35173
HP:0100702	Arachnoid cyst	2260	FGFR1	OMIM:613001
HP:0100702	Arachnoid cyst	196528	ARID2	OMIM:617808
HP:0100702	Arachnoid cyst	2263	FGFR2	OMIM:101200
HP:0100703	Tongue thrusting	7337	UBE3A	ORPHA:98794
HP:0100703	Tongue thrusting	7337	UBE3A	ORPHA:98795
HP:0100703	Tongue thrusting	7337	UBE3A	ORPHA:411511
HP:0100703	Tongue thrusting	4948	OCA2	ORPHA:98794
HP:0100703	Tongue thrusting	2898	GRIK2	OMIM:619580
HP:0100703	Tongue thrusting	6792	CDKL5	ORPHA:3095
HP:0100703	Tongue thrusting	22854	NTNG1	ORPHA:3095
HP:0100703	Tongue thrusting	9568	GABBR2	ORPHA:3095
HP:0100703	Tongue thrusting	4204	MECP2	ORPHA:3095
HP:0100703	Tongue thrusting	8243	SMC1A	ORPHA:3095
HP:0100703	Tongue thrusting	56992	KIF15	ORPHA:261323
HP:0100703	Tongue thrusting	132158	GLYCTK	OMIM:220120
HP:0100703	Tongue thrusting	57688	ZSWIM6	OMIM:617865
HP:0100703	Tongue thrusting	2290	FOXG1	OMIM:613454
HP:0100703	Tongue thrusting	673	BRAF	OMIM:115150
HP:0100703	Tongue thrusting	1644	DDC	OMIM:608643
HP:0100703	Tongue thrusting	85358	SHANK3	OMIM:606232
HP:0100704	Cerebral visual impairment	6323	SCN1A	OMIM:607208
HP:0100704	Cerebral visual impairment	291	SLC25A4	ORPHA:254892
HP:0100704	Cerebral visual impairment	5428	POLG	ORPHA:254892
HP:0100704	Cerebral visual impairment	5428	POLG	OMIM:203700
HP:0100704	Cerebral visual impairment	56652	TWNK	ORPHA:254892
HP:0100704	Cerebral visual impairment	11232	POLG2	ORPHA:254892
HP:0100704	Cerebral visual impairment	11232	POLG2	OMIM:610131
HP:0100704	Cerebral visual impairment	50484	RRM2B	ORPHA:254892
HP:0100704	Cerebral visual impairment	23394	ADNP	ORPHA:404448
HP:0100704	Cerebral visual impairment	10466	COG5	ORPHA:263487
HP:0100704	Cerebral visual impairment	104	ADARB1	OMIM:618862
HP:0100704	Cerebral visual impairment	1183	CLCN4	OMIM:300114
HP:0100704	Cerebral visual impairment	1183	CLCN4	ORPHA:485350
HP:0100704	Cerebral visual impairment	776	CACNA1D	OMIM:615474
HP:0100704	Cerebral visual impairment	776	CACNA1D	ORPHA:369929
HP:0100704	Cerebral visual impairment	55823	VPS11	OMIM:616683
HP:0100704	Cerebral visual impairment	55823	VPS11	ORPHA:466934
HP:0100704	Cerebral visual impairment	7355	SLC35A2	ORPHA:356961
HP:0100704	Cerebral visual impairment	673	BRAF	OMIM:115150
HP:0100704	Cerebral visual impairment	65062	TMEM237	OMIM:614424
HP:0100704	Cerebral visual impairment	781	CACNA2D1	OMIM:620149
HP:0100704	Cerebral visual impairment	85358	SHANK3	OMIM:606232
HP:0100704	Cerebral visual impairment	6328	SCN3A	OMIM:617938
HP:0100704	Cerebral visual impairment	1119	CHKA	OMIM:620023
HP:0100704	Cerebral visual impairment	132158	GLYCTK	ORPHA:941
HP:0100704	Cerebral visual impairment	10093	ARPC4	OMIM:620141
HP:0100704	Cerebral visual impairment	128869	PIGU	OMIM:618590
HP:0100704	Cerebral visual impairment	51112	TRAPPC12	ORPHA:500144
HP:0100704	Cerebral visual impairment	51112	TRAPPC12	OMIM:617669
HP:0100704	Cerebral visual impairment	51103	NDUFAF1	OMIM:618234
HP:0100704	Cerebral visual impairment	387119	CEP85L	OMIM:618873
HP:0100704	Cerebral visual impairment	387119	CEP85L	ORPHA:572013
HP:0100704	Cerebral visual impairment	3020	H3-3A	OMIM:619720
HP:0100704	Cerebral visual impairment	6651	SON	OMIM:617140
HP:0100704	Cerebral visual impairment	6651	SON	ORPHA:500150
HP:0100704	Cerebral visual impairment	57520	HECW2	OMIM:617268
HP:0100704	Cerebral visual impairment	396	ARHGDIA	OMIM:615244
HP:0100704	Cerebral visual impairment	2782	GNB1	ORPHA:488613
HP:0100704	Cerebral visual impairment	2782	GNB1	OMIM:616973
HP:0100704	Cerebral visual impairment	27245	AHDC1	ORPHA:412069
HP:0100704	Cerebral visual impairment	1841	DTYMK	OMIM:619847
HP:0100704	Cerebral visual impairment	79639	TMEM53	OMIM:619727
HP:0100704	Cerebral visual impairment	166378	AFG2A	OMIM:616577
HP:0100704	Cerebral visual impairment	80055	PGAP1	OMIM:615802
HP:0100704	Cerebral visual impairment	2561	GABRB2	OMIM:617829
HP:0100704	Cerebral visual impairment	10978	CLP1	OMIM:615803
HP:0100704	Cerebral visual impairment	271	AMPD2	OMIM:615809
HP:0100704	Cerebral visual impairment	23499	MACF1	ORPHA:572013
HP:0100704	Cerebral visual impairment	23499	MACF1	OMIM:618325
HP:0100704	Cerebral visual impairment	8869	ST3GAL5	OMIM:609056
HP:0100704	Cerebral visual impairment	1340	COX6B1	OMIM:619051
HP:0100704	Cerebral visual impairment	1185	CLCN6	OMIM:619173
HP:0100704	Cerebral visual impairment	4512	MT-CO1	OMIM:540000
HP:0100704	Cerebral visual impairment	4513	MT-CO2	OMIM:540000
HP:0100704	Cerebral visual impairment	4514	MT-CO3	OMIM:540000
HP:0100704	Cerebral visual impairment	4519	MT-CYB	OMIM:540000
HP:0100704	Cerebral visual impairment	4511	MT-TC	OMIM:540000
HP:0100704	Cerebral visual impairment	4574	MT-TS1	OMIM:540000
HP:0100704	Cerebral visual impairment	4575	MT-TS2	OMIM:540000
HP:0100704	Cerebral visual impairment	4558	MT-TF	OMIM:540000
HP:0100704	Cerebral visual impairment	4541	MT-ND6	OMIM:540000
HP:0100704	Cerebral visual impairment	4567	MT-TL1	OMIM:540000
HP:0100704	Cerebral visual impairment	4540	MT-ND5	OMIM:540000
HP:0100704	Cerebral visual impairment	4566	MT-TK	OMIM:540000
HP:0100704	Cerebral visual impairment	4535	MT-ND1	OMIM:540000
HP:0100704	Cerebral visual impairment	4572	MT-TQ	OMIM:540000
HP:0100704	Cerebral visual impairment	4577	MT-TV	OMIM:540000
HP:0100704	Cerebral visual impairment	4578	MT-TW	OMIM:540000
HP:0100704	Cerebral visual impairment	473	RERE	ORPHA:494344
HP:0100704	Cerebral visual impairment	4001	LMNB1	OMIM:619179
HP:0100704	Cerebral visual impairment	2560	GABRB1	OMIM:617153
HP:0100704	Cerebral visual impairment	10588	MTHFS	OMIM:618367
HP:0100704	Cerebral visual impairment	100131801	PET100	OMIM:619055
HP:0100704	Cerebral visual impairment	55572	FOXRED1	OMIM:618241
HP:0100704	Cerebral visual impairment	3899	AFF3	OMIM:619297
HP:0100704	Cerebral visual impairment	6844	VAMP2	OMIM:618760
HP:0100704	Cerebral visual impairment	5119	CHMP1A	OMIM:614961
HP:0100704	Cerebral visual impairment	79029	AFG2B	OMIM:619616
HP:0100704	Cerebral visual impairment	5530	PPP3CA	OMIM:617711
HP:0100704	Cerebral visual impairment	7994	KAT6A	ORPHA:457193
HP:0100704	Cerebral visual impairment	7994	KAT6A	OMIM:616268
HP:0100704	Cerebral visual impairment	80746	TSEN2	OMIM:612389
HP:0100704	Cerebral visual impairment	80746	TSEN2	ORPHA:2524
HP:0100704	Cerebral visual impairment	93627	TBCK	OMIM:616900
HP:0100704	Cerebral visual impairment	29920	PYCR2	ORPHA:481152
HP:0100704	Cerebral visual impairment	2917	GRM7	OMIM:618922
HP:0100704	Cerebral visual impairment	85465	SELENOI	OMIM:618768
HP:0100704	Cerebral visual impairment	128989	TANGO2	ORPHA:480864
HP:0100704	Cerebral visual impairment	6821	SUOX	OMIM:272300
HP:0100704	Cerebral visual impairment	1678	TIMM8A	OMIM:304700
HP:0100704	Cerebral visual impairment	1678	TIMM8A	ORPHA:52368
HP:0100704	Cerebral visual impairment	2898	GRIK2	OMIM:619580
HP:0100704	Cerebral visual impairment	10087	CERT1	OMIM:616351
HP:0100704	Cerebral visual impairment	774	CACNA1B	OMIM:618497
HP:0100704	Cerebral visual impairment	11342	RNF13	OMIM:618379
HP:0100704	Cerebral visual impairment	11342	RNF13	ORPHA:544503
HP:0100704	Cerebral visual impairment	2906	GRIN2D	OMIM:617162
HP:0100704	Cerebral visual impairment	54681	P4HTM	OMIM:618493
HP:0100704	Cerebral visual impairment	5277	PIGA	OMIM:300868
HP:0100704	Cerebral visual impairment	5277	PIGA	OMIM:301072
HP:0100704	Cerebral visual impairment	23327	NEDD4L	OMIM:617201
HP:0100704	Cerebral visual impairment	1822	ATN1	OMIM:618494
HP:0100704	Cerebral visual impairment	4761	NEUROD2	OMIM:618374
HP:0100704	Cerebral visual impairment	2257	FGF12	OMIM:617166
HP:0100704	Cerebral visual impairment	23065	EMC1	OMIM:616875
HP:0100704	Cerebral visual impairment	23065	EMC1	ORPHA:480898
HP:0100704	Cerebral visual impairment	1729	DIAPH1	OMIM:616632
HP:0100704	Cerebral visual impairment	28514	DLL1	ORPHA:93926
HP:0100704	Cerebral visual impairment	28514	DLL1	ORPHA:93924
HP:0100704	Cerebral visual impairment	28514	DLL1	ORPHA:93925
HP:0100704	Cerebral visual impairment	28514	DLL1	ORPHA:220386
HP:0100704	Cerebral visual impairment	2253	FGF8	ORPHA:93926
HP:0100704	Cerebral visual impairment	2253	FGF8	ORPHA:93924
HP:0100704	Cerebral visual impairment	2253	FGF8	ORPHA:93925
HP:0100704	Cerebral visual impairment	2253	FGF8	ORPHA:220386
HP:0100704	Cerebral visual impairment	6496	SIX3	ORPHA:93926
HP:0100704	Cerebral visual impairment	6496	SIX3	ORPHA:93924
HP:0100704	Cerebral visual impairment	6496	SIX3	ORPHA:93925
HP:0100704	Cerebral visual impairment	6496	SIX3	ORPHA:220386
HP:0100704	Cerebral visual impairment	7050	TGIF1	ORPHA:93926
HP:0100704	Cerebral visual impairment	7050	TGIF1	ORPHA:93924
HP:0100704	Cerebral visual impairment	7050	TGIF1	ORPHA:93925
HP:0100704	Cerebral visual impairment	7050	TGIF1	ORPHA:220386
HP:0100704	Cerebral visual impairment	4838	NODAL	ORPHA:93926
HP:0100704	Cerebral visual impairment	4838	NODAL	ORPHA:93924
HP:0100704	Cerebral visual impairment	4838	NODAL	ORPHA:93925
HP:0100704	Cerebral visual impairment	4838	NODAL	ORPHA:220386
HP:0100704	Cerebral visual impairment	6469	SHH	ORPHA:93926
HP:0100704	Cerebral visual impairment	6469	SHH	ORPHA:93924
HP:0100704	Cerebral visual impairment	6469	SHH	ORPHA:93925
HP:0100704	Cerebral visual impairment	6469	SHH	ORPHA:220386
HP:0100704	Cerebral visual impairment	7546	ZIC2	ORPHA:93926
HP:0100704	Cerebral visual impairment	7546	ZIC2	ORPHA:93924
HP:0100704	Cerebral visual impairment	7546	ZIC2	ORPHA:93925
HP:0100704	Cerebral visual impairment	7546	ZIC2	ORPHA:220386
HP:0100704	Cerebral visual impairment	6491	STIL	ORPHA:93926
HP:0100704	Cerebral visual impairment	6491	STIL	ORPHA:93924
HP:0100704	Cerebral visual impairment	6491	STIL	ORPHA:93925
HP:0100704	Cerebral visual impairment	6491	STIL	ORPHA:220386
HP:0100704	Cerebral visual impairment	2619	GAS1	ORPHA:93926
HP:0100704	Cerebral visual impairment	2619	GAS1	ORPHA:93924
HP:0100704	Cerebral visual impairment	2619	GAS1	ORPHA:93925
HP:0100704	Cerebral visual impairment	2619	GAS1	ORPHA:220386
HP:0100704	Cerebral visual impairment	84976	DISP1	ORPHA:93926
HP:0100704	Cerebral visual impairment	84976	DISP1	ORPHA:93924
HP:0100704	Cerebral visual impairment	84976	DISP1	ORPHA:93925
HP:0100704	Cerebral visual impairment	84976	DISP1	ORPHA:220386
HP:0100704	Cerebral visual impairment	2736	GLI2	ORPHA:93926
HP:0100704	Cerebral visual impairment	2736	GLI2	ORPHA:93924
HP:0100704	Cerebral visual impairment	2736	GLI2	ORPHA:93925
HP:0100704	Cerebral visual impairment	2736	GLI2	ORPHA:220386
HP:0100704	Cerebral visual impairment	8928	FOXH1	ORPHA:93926
HP:0100704	Cerebral visual impairment	8928	FOXH1	ORPHA:93924
HP:0100704	Cerebral visual impairment	8928	FOXH1	ORPHA:93925
HP:0100704	Cerebral visual impairment	8928	FOXH1	ORPHA:220386
HP:0100704	Cerebral visual impairment	5727	PTCH1	ORPHA:93926
HP:0100704	Cerebral visual impairment	5727	PTCH1	ORPHA:93924
HP:0100704	Cerebral visual impairment	5727	PTCH1	ORPHA:93925
HP:0100704	Cerebral visual impairment	5727	PTCH1	ORPHA:220386
HP:0100704	Cerebral visual impairment	50937	CDON	ORPHA:93926
HP:0100704	Cerebral visual impairment	50937	CDON	ORPHA:93924
HP:0100704	Cerebral visual impairment	50937	CDON	ORPHA:93925
HP:0100704	Cerebral visual impairment	50937	CDON	ORPHA:220386
HP:0100704	Cerebral visual impairment	2260	FGFR1	ORPHA:93924
HP:0100704	Cerebral visual impairment	2260	FGFR1	ORPHA:220386
HP:0100704	Cerebral visual impairment	23007	PLCH1	ORPHA:93925
HP:0100704	Cerebral visual impairment	10735	STAG2	ORPHA:93925
HP:0100704	Cerebral visual impairment	10735	STAG2	ORPHA:220386
HP:0100704	Cerebral visual impairment	79731	NARS2	OMIM:616239
HP:0100704	Cerebral visual impairment	26227	PHGDH	ORPHA:79351
HP:0100704	Cerebral visual impairment	6638	SNRPN	ORPHA:177907
HP:0100704	Cerebral visual impairment	6792	CDKL5	OMIM:300672
HP:0100704	Cerebral visual impairment	7025	NR2F1	ORPHA:401777
HP:0100704	Cerebral visual impairment	7025	NR2F1	OMIM:615722
HP:0100704	Cerebral visual impairment	5518	PPP2R1A	OMIM:616362
HP:0100704	Cerebral visual impairment	5518	PPP2R1A	ORPHA:457284
HP:0100704	Cerebral visual impairment	84265	POLR3GL	OMIM:619234
HP:0100704	Cerebral visual impairment	57003	CCDC47	OMIM:618268
HP:0100704	Cerebral visual impairment	51604	PIGT	OMIM:615398
HP:0100704	Cerebral visual impairment	51604	PIGT	ORPHA:369837
HP:0100704	Cerebral visual impairment	57545	CC2D2A	OMIM:612285
HP:0100704	Cerebral visual impairment	94005	PIGS	OMIM:618143
HP:0100704	Cerebral visual impairment	22931	RAB18	OMIM:614222
HP:0100704	Cerebral visual impairment	22931	RAB18	ORPHA:2510
HP:0100704	Cerebral visual impairment	9894	TELO2	ORPHA:488642
HP:0100704	Cerebral visual impairment	9894	TELO2	OMIM:616954
HP:0100704	Cerebral visual impairment	51692	CPSF3	OMIM:619876
HP:0100704	Cerebral visual impairment	3098	HK1	OMIM:618547
HP:0100704	Cerebral visual impairment	85440	DOCK7	ORPHA:411986
HP:0100704	Cerebral visual impairment	85440	DOCK7	OMIM:615859
HP:0100704	Cerebral visual impairment	9091	PIGQ	OMIM:618548
HP:0100704	Cerebral visual impairment	83475	DOHH	OMIM:620066
HP:0100704	Cerebral visual impairment	84992	PIGY	OMIM:616809
HP:0100704	Cerebral visual impairment	728294	D2HGDH	OMIM:600721
HP:0100704	Cerebral visual impairment	2222	FDFT1	OMIM:618156
HP:0100704	Cerebral visual impairment	90522	YIF1B	OMIM:619125
HP:0100704	Cerebral visual impairment	253959	RALGAPA1	OMIM:618797
HP:0100704	Cerebral visual impairment	283989	TSEN54	ORPHA:2524
HP:0100704	Cerebral visual impairment	116461	TSEN15	ORPHA:2524
HP:0100704	Cerebral visual impairment	79042	TSEN34	ORPHA:2524
HP:0100704	Cerebral visual impairment	51091	SEPSECS	ORPHA:2524
HP:0100704	Cerebral visual impairment	2555	GABRA2	OMIM:618557
HP:0100704	Cerebral visual impairment	25973	PARS2	OMIM:618437
HP:0100704	Cerebral visual impairment	8911	CACNA1I	OMIM:620114
HP:0100704	Cerebral visual impairment	60386	SLC25A19	OMIM:607196
HP:0100704	Cerebral visual impairment	8813	DPM1	OMIM:608799
HP:0100704	Cerebral visual impairment	8813	DPM1	ORPHA:79322
HP:0100704	Cerebral visual impairment	57107	PDSS2	ORPHA:255249
HP:0100704	Cerebral visual impairment	57107	PDSS2	OMIM:614652
HP:0100704	Cerebral visual impairment	27235	COQ2	ORPHA:255249
HP:0100704	Cerebral visual impairment	23162	MAPK8IP3	OMIM:618443
HP:0100704	Cerebral visual impairment	197258	FCSK	OMIM:618324
HP:0100704	Cerebral visual impairment	3798	KIF5A	OMIM:617235
HP:0100704	Cerebral visual impairment	440	ASNS	OMIM:615574
HP:0100704	Cerebral visual impairment	777	CACNA1E	OMIM:618285
HP:0100704	Cerebral visual impairment	84231	TRAF7	OMIM:618164
HP:0100704	Cerebral visual impairment	4668	NAGA	OMIM:609241
HP:0100704	Cerebral visual impairment	4668	NAGA	ORPHA:79279
HP:0100704	Cerebral visual impairment	8243	SMC1A	ORPHA:220386
HP:0100704	Cerebral visual impairment	133686	NADK2	ORPHA:431361
HP:0100704	Cerebral visual impairment	133686	NADK2	OMIM:616034
HP:0100704	Cerebral visual impairment	738	VPS51	OMIM:618606
HP:0100704	Cerebral visual impairment	51227	PIGP	OMIM:617599
HP:0100704	Cerebral visual impairment	1107	CHD3	OMIM:618205
HP:0100704	Cerebral visual impairment	5718	PSMD12	OMIM:617516
HP:0100704	Cerebral visual impairment	9757	KMT2B	OMIM:619934
HP:0100704	Cerebral visual impairment	57731	SPTBN4	OMIM:617519
HP:0100704	Cerebral visual impairment	22930	RAB3GAP1	ORPHA:2510
HP:0100704	Cerebral visual impairment	25782	RAB3GAP2	ORPHA:2510
HP:0100704	Cerebral visual impairment	128637	TBC1D20	ORPHA:2510
HP:0100704	Cerebral visual impairment	116150	NUS1	OMIM:617082
HP:0100704	Cerebral visual impairment	6576	SLC25A1	OMIM:615182
HP:0100704	Cerebral visual impairment	2902	GRIN1	OMIM:614254
HP:0100704	Cerebral visual impairment	2902	GRIN1	ORPHA:208447
HP:0100704	Cerebral visual impairment	51693	TRAPPC2L	OMIM:618331
HP:0100704	Cerebral visual impairment	9276	COPB2	OMIM:617800
HP:0100704	Cerebral visual impairment	10844	TUBGCP2	OMIM:618737
HP:0100704	Cerebral visual impairment	547	KIF1A	OMIM:614255
HP:0100704	Cerebral visual impairment	221927	BRAT1	OMIM:614498
HP:0100704	Cerebral visual impairment	58497	PRUNE1	ORPHA:544469
HP:0100704	Cerebral visual impairment	55294	FBXW7	OMIM:620012
HP:0100705	Abnormal glial cell morphology	2074	ERCC6	OMIM:214150
HP:0100705	Abnormal glial cell morphology	5274	SERPINI1	OMIM:604218
HP:0100705	Abnormal glial cell morphology	10128	LRPPRC	OMIM:220111
HP:0100705	Abnormal glial cell morphology	7528	YY1	ORPHA:506358
HP:0100705	Abnormal glial cell morphology	4287	ATXN3	OMIM:109150
HP:0100705	Abnormal glial cell morphology	4137	MAPT	OMIM:601104
HP:0100705	Abnormal glial cell morphology	4137	MAPT	OMIM:172700
HP:0100705	Abnormal glial cell morphology	4728	NDUFS8	OMIM:618222
HP:0100705	Abnormal glial cell morphology	55768	NGLY1	OMIM:615273
HP:0100705	Abnormal glial cell morphology	55768	NGLY1	ORPHA:404454
HP:0100705	Abnormal glial cell morphology	57187	THOC2	OMIM:300957
HP:0100705	Abnormal glial cell morphology	57187	THOC2	ORPHA:457240
HP:0100705	Abnormal glial cell morphology	1859	DYRK1A	ORPHA:268261
HP:0100705	Abnormal glial cell morphology	5663	PSEN1	OMIM:172700
HP:0100705	Abnormal glial cell morphology	1593	CYP27A1	ORPHA:909
HP:0100705	Abnormal glial cell morphology	4337	MOCS1	OMIM:252150
HP:0100705	Abnormal glial cell morphology	23394	ADNP	OMIM:615873
HP:0100705	Abnormal glial cell morphology	1355	COX15	OMIM:615119
HP:0100705	Abnormal glial cell morphology	5428	POLG	OMIM:203700
HP:0100705	Abnormal glial cell morphology	4001	LMNB1	OMIM:169500
HP:0100705	Abnormal glial cell morphology	2521	FUS	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	8878	SQSTM1	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	7415	VCP	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	23435	TARDBP	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	29110	TBK1	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	400916	CHCHD10	ORPHA:275872
HP:0100705	Abnormal glial cell morphology	203228	C9orf72	OMIM:105550
HP:0100705	Abnormal glial cell morphology	2896	GRN	OMIM:607485
HP:0100705	Abnormal glial cell morphology	79813	EHMT1	ORPHA:261652
HP:0100705	Abnormal glial cell morphology	58508	KMT2C	ORPHA:261652
HP:0100705	Abnormal glial cell morphology	283989	TSEN54	OMIM:225753
HP:0100705	Abnormal glial cell morphology	283989	TSEN54	OMIM:277470
HP:0100705	Abnormal glial cell morphology	1841	DTYMK	OMIM:619847
HP:0100705	Abnormal glial cell morphology	10342	TFG	OMIM:604484
HP:0100705	Abnormal glial cell morphology	57582	KCNT1	OMIM:614959
HP:0100705	Abnormal glial cell morphology	2475	MTOR	ORPHA:99802
HP:0100705	Abnormal glial cell morphology	10000	AKT3	ORPHA:99802
HP:0100705	Abnormal glial cell morphology	3064	HTT	OMIM:143100
HP:0100705	Abnormal glial cell morphology	617	BCS1L	OMIM:124000
HP:0100705	Abnormal glial cell morphology	9179	AP4M1	OMIM:612936
HP:0100705	Abnormal glial cell morphology	79944	L2HGDH	OMIM:236792
HP:0100705	Abnormal glial cell morphology	6904	TBCD	OMIM:617193
HP:0100705	Abnormal glial cell morphology	1436	CSF1R	OMIM:221820
HP:0100705	Abnormal glial cell morphology	55739	NAXD	OMIM:618321
HP:0100705	Abnormal glial cell morphology	170302	ARX	OMIM:300215
HP:0100705	Abnormal glial cell morphology	63925	ZNF335	OMIM:615095
HP:0100705	Abnormal glial cell morphology	29978	UBQLN2	OMIM:300857
HP:0100705	Abnormal glial cell morphology	4125	MAN2B1	OMIM:248500
HP:0100705	Abnormal glial cell morphology	51780	KDM3B	OMIM:618846
HP:0100705	Abnormal glial cell morphology	551	AVP	OMIM:125700
HP:0100705	Abnormal glial cell morphology	54834	GDAP2	OMIM:618369
HP:0100705	Abnormal glial cell morphology	2629	GBA1	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	23317	DNAJC13	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	1981	EIF4G1	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	55737	VPS35	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	120892	LRRK2	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	26058	GIGYF2	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	6622	SNCA	ORPHA:411602
HP:0100705	Abnormal glial cell morphology	6622	SNCA	OMIM:168601
HP:0100705	Abnormal glial cell morphology	3295	HSD17B4	OMIM:261515
HP:0100705	Abnormal glial cell morphology	2744	GLS	OMIM:618328
HP:0100705	Abnormal glial cell morphology	23203	PMPCA	OMIM:213200
HP:0100705	Abnormal glial cell morphology	5076	PAX2	OMIM:120330
HP:0100705	Abnormal glial cell morphology	5903	RANBP2	OMIM:608033
HP:0100705	Abnormal glial cell morphology	5903	RANBP2	ORPHA:88619
HP:0100705	Abnormal glial cell morphology	1967	EIF2B1	OMIM:603896
HP:0100705	Abnormal glial cell morphology	7305	TYROBP	OMIM:221770
HP:0100705	Abnormal glial cell morphology	5277	PIGA	OMIM:300868
HP:0100705	Abnormal glial cell morphology	5277	PIGA	OMIM:301072
HP:0100705	Abnormal glial cell morphology	7098	TLR3	OMIM:613002
HP:0100705	Abnormal glial cell morphology	523	ATP6V1A	OMIM:617403
HP:0100705	Abnormal glial cell morphology	8398	PLA2G6	OMIM:256600
HP:0100705	Abnormal glial cell morphology	221927	BRAT1	OMIM:614498
HP:0100705	Abnormal glial cell morphology	4338	MOCS2	OMIM:252160
HP:0100705	Abnormal glial cell morphology	79731	NARS2	OMIM:616239
HP:0100705	Abnormal glial cell morphology	6908	TBP	OMIM:607136
HP:0100705	Abnormal glial cell morphology	2108	ETFA	OMIM:231680
HP:0100705	Abnormal glial cell morphology	2109	ETFB	OMIM:231680
HP:0100705	Abnormal glial cell morphology	2110	ETFDH	OMIM:231680
HP:0100705	Abnormal glial cell morphology	25978	CHMP2B	OMIM:600795
HP:0100705	Abnormal glial cell morphology	25978	CHMP2B	ORPHA:275864
HP:0100705	Abnormal glial cell morphology	25978	CHMP2B	ORPHA:100070
HP:0100705	Abnormal glial cell morphology	55532	SLC30A10	ORPHA:309854
HP:0100705	Abnormal glial cell morphology	92335	STRADA	OMIM:611087
HP:0100705	Abnormal glial cell morphology	1161	ERCC8	ORPHA:90324
HP:0100705	Abnormal glial cell morphology	54664	TMEM106B	ORPHA:275864
HP:0100705	Abnormal glial cell morphology	54664	TMEM106B	ORPHA:100070
HP:0100705	Abnormal glial cell morphology	54209	TREM2	ORPHA:275864
HP:0100705	Abnormal glial cell morphology	54209	TREM2	ORPHA:100070
HP:0100705	Abnormal glial cell morphology	3908	LAMA2	ORPHA:258
HP:0100705	Abnormal glial cell morphology	4221	MEN1	ORPHA:652
HP:0100705	Abnormal glial cell morphology	1027	CDKN1B	ORPHA:652
HP:0100705	Abnormal glial cell morphology	1026	CDKN1A	ORPHA:652
HP:0100705	Abnormal glial cell morphology	1030	CDKN2B	ORPHA:652
HP:0100705	Abnormal glial cell morphology	1031	CDKN2C	ORPHA:652
HP:0100705	Abnormal glial cell morphology	65998	ZFTA	ORPHA:251636
HP:0100705	Abnormal glial cell morphology	5970	RELA	ORPHA:251636
HP:0100705	Abnormal glial cell morphology	26040	SETBP1	ORPHA:798
HP:0100705	Abnormal glial cell morphology	5621	PRNP	OMIM:603218
HP:0100705	Abnormal glial cell morphology	9997	SCO2	OMIM:604377
HP:0100705	Abnormal glial cell morphology	9997	SCO2	ORPHA:70474
HP:0100705	Abnormal glial cell morphology	4508	MT-ATP6	ORPHA:225154
HP:0100705	Abnormal glial cell morphology	23636	NUP62	ORPHA:225154
HP:0100705	Abnormal glial cell morphology	103	ADAR	ORPHA:225154
HP:0100705	Abnormal glial cell morphology	7443	VRK1	OMIM:607596
HP:0100705	Abnormal glial cell morphology	9361	LONP1	ORPHA:79243
HP:0100705	Abnormal glial cell morphology	5160	PDHA1	ORPHA:79243
HP:0100705	Abnormal glial cell morphology	10667	FARS2	OMIM:614946
HP:0100705	Abnormal glial cell morphology	25915	NDUFAF3	ORPHA:70474
HP:0100705	Abnormal glial cell morphology	4714	NDUFB8	ORPHA:70474
HP:0100705	Abnormal glial cell morphology	4720	NDUFS2	ORPHA:70474
HP:0100705	Abnormal glial cell morphology	6834	SURF1	ORPHA:70474
HP:0100705	Abnormal glial cell morphology	25913	POT1	OMIM:616568
HP:0100705	Abnormal glial cell morphology	64324	NSD1	ORPHA:821
HP:0100705	Abnormal glial cell morphology	29072	SETD2	ORPHA:821
HP:0100705	Abnormal glial cell morphology	10297	APC2	ORPHA:821
HP:0100705	Abnormal glial cell morphology	4437	MSH3	OMIM:617100
HP:0100705	Abnormal glial cell morphology	4437	MSH3	ORPHA:480536
HP:0100705	Abnormal glial cell morphology	2260	FGFR1	OMIM:613001
HP:0100705	Abnormal glial cell morphology	3418	IDH2	ORPHA:163634
HP:0100705	Abnormal glial cell morphology	4771	NF2	ORPHA:637
HP:0100705	Abnormal glial cell morphology	4771	NF2	OMIM:101000
HP:0100705	Abnormal glial cell morphology	7249	TSC2	OMIM:613254
HP:0100705	Abnormal glial cell morphology	7249	TSC2	ORPHA:805
HP:0100705	Abnormal glial cell morphology	3458	IFNG	OMIM:613254
HP:0100705	Abnormal glial cell morphology	3458	IFNG	ORPHA:805
HP:0100705	Abnormal glial cell morphology	7248	TSC1	ORPHA:805
HP:0100705	Abnormal glial cell morphology	4683	NBN	OMIM:251260
HP:0100705	Abnormal glial cell morphology	4683	NBN	ORPHA:647
HP:0100705	Abnormal glial cell morphology	6608	SMO	OMIM:241800
HP:0100705	Abnormal glial cell morphology	161742	SPRED1	ORPHA:137605
HP:0100705	Abnormal glial cell morphology	4763	NF1	ORPHA:97685
HP:0100705	Abnormal glial cell morphology	5071	PRKN	OMIM:600116
HP:0100705	Abnormal glial cell morphology	2747	GLUD2	OMIM:168600
HP:0100705	Abnormal glial cell morphology	126	ADH1C	OMIM:168600
HP:0100705	Abnormal glial cell morphology	4929	NR4A2	OMIM:168600
HP:0100705	Abnormal glial cell morphology	4576	MT-TT	OMIM:168600
HP:0100705	Abnormal glial cell morphology	9627	SNCAIP	OMIM:168600
HP:0100705	Abnormal glial cell morphology	6311	ATXN2	OMIM:168600
HP:0100705	Abnormal glial cell morphology	6315	ATXN8OS	OMIM:168600
HP:0100705	Abnormal glial cell morphology	25793	FBXO7	ORPHA:171695
HP:0100705	Abnormal glial cell morphology	64218	SEMA4A	ORPHA:440437
HP:0100705	Abnormal glial cell morphology	657	BMPR1A	ORPHA:440437
HP:0100705	Abnormal glial cell morphology	6224	RPS20	ORPHA:440437
HP:0100705	Abnormal glial cell morphology	4072	EPCAM	ORPHA:144
HP:0100705	Abnormal glial cell morphology	4292	MLH1	ORPHA:144
HP:0100705	Abnormal glial cell morphology	4292	MLH1	OMIM:276300
HP:0100705	Abnormal glial cell morphology	5395	PMS2	ORPHA:144
HP:0100705	Abnormal glial cell morphology	5395	PMS2	OMIM:619101
HP:0100705	Abnormal glial cell morphology	27030	MLH3	ORPHA:144
HP:0100705	Abnormal glial cell morphology	22909	FAN1	ORPHA:144
HP:0100705	Abnormal glial cell morphology	7048	TGFBR2	ORPHA:144
HP:0100705	Abnormal glial cell morphology	3845	KRAS	ORPHA:144
HP:0100705	Abnormal glial cell morphology	5290	PIK3CA	ORPHA:144
HP:0100705	Abnormal glial cell morphology	2956	MSH6	ORPHA:144
HP:0100705	Abnormal glial cell morphology	2956	MSH6	OMIM:619097
HP:0100705	Abnormal glial cell morphology	5378	PMS1	ORPHA:144
HP:0100705	Abnormal glial cell morphology	4436	MSH2	ORPHA:144
HP:0100705	Abnormal glial cell morphology	4436	MSH2	OMIM:619096
HP:0100705	Abnormal glial cell morphology	324	APC	ORPHA:99818
HP:0100705	Abnormal glial cell morphology	675	BRCA2	OMIM:613029
HP:0100705	Abnormal glial cell morphology	7157	TP53	OMIM:137800
HP:0100705	Abnormal glial cell morphology	7157	TP53	ORPHA:524
HP:0100705	Abnormal glial cell morphology	2064	ERBB2	OMIM:137800
HP:0100705	Abnormal glial cell morphology	3417	IDH1	OMIM:137800
HP:0100705	Abnormal glial cell morphology	1029	CDKN2A	ORPHA:524
HP:0100705	Abnormal glial cell morphology	4193	MDM2	ORPHA:524
HP:0100705	Abnormal glial cell morphology	11200	CHEK2	ORPHA:524
HP:0100705	Abnormal glial cell morphology	91137	SLC25A46	OMIM:616505
HP:0100705	Abnormal glial cell morphology	6900	CNTN2	OMIM:615400
HP:0100705	Abnormal glial cell morphology	9131	AIFM1	ORPHA:83629
HP:0100705	Abnormal glial cell morphology	5354	PLP1	OMIM:312080
HP:0100706	Abnormal oligodendroglia morphology	5354	PLP1	OMIM:312080
HP:0100707	Abnormal astrocyte morphology	5621	PRNP	ORPHA:282166
HP:0100707	Abnormal astrocyte morphology	25978	CHMP2B	OMIM:600795
HP:0100707	Abnormal astrocyte morphology	25978	CHMP2B	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	25978	CHMP2B	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	4137	MAPT	OMIM:601104
HP:0100707	Abnormal astrocyte morphology	4137	MAPT	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	4137	MAPT	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	4508	MT-ATP6	ORPHA:225154
HP:0100707	Abnormal astrocyte morphology	23636	NUP62	ORPHA:225154
HP:0100707	Abnormal astrocyte morphology	103	ADAR	ORPHA:225154
HP:0100707	Abnormal astrocyte morphology	55532	SLC30A10	ORPHA:309854
HP:0100707	Abnormal astrocyte morphology	92335	STRADA	OMIM:611087
HP:0100707	Abnormal astrocyte morphology	1161	ERCC8	ORPHA:90324
HP:0100707	Abnormal astrocyte morphology	2074	ERCC6	ORPHA:90324
HP:0100707	Abnormal astrocyte morphology	5663	PSEN1	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	5663	PSEN1	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	2896	GRN	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	2896	GRN	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	54664	TMEM106B	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	54664	TMEM106B	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	8878	SQSTM1	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	54209	TREM2	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	54209	TREM2	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	7415	VCP	ORPHA:275864
HP:0100707	Abnormal astrocyte morphology	7415	VCP	ORPHA:100070
HP:0100707	Abnormal astrocyte morphology	5428	POLG	OMIM:203700
HP:0100707	Abnormal astrocyte morphology	3908	LAMA2	ORPHA:258
HP:0100707	Abnormal astrocyte morphology	2475	MTOR	OMIM:607341
HP:0100707	Abnormal astrocyte morphology	2956	MSH6	OMIM:619097
HP:0100707	Abnormal astrocyte morphology	4763	NF1	OMIM:162200
HP:0100707	Abnormal astrocyte morphology	7157	TP53	OMIM:137800
HP:0100707	Abnormal astrocyte morphology	7157	TP53	ORPHA:524
HP:0100707	Abnormal astrocyte morphology	2064	ERBB2	OMIM:137800
HP:0100707	Abnormal astrocyte morphology	3417	IDH1	OMIM:137800
HP:0100707	Abnormal astrocyte morphology	3417	IDH1	ORPHA:163634
HP:0100707	Abnormal astrocyte morphology	1029	CDKN2A	OMIM:155755
HP:0100707	Abnormal astrocyte morphology	1029	CDKN2A	ORPHA:524
HP:0100707	Abnormal astrocyte morphology	25913	POT1	OMIM:616568
HP:0100707	Abnormal astrocyte morphology	7249	TSC2	OMIM:613254
HP:0100707	Abnormal astrocyte morphology	3458	IFNG	OMIM:613254
HP:0100707	Abnormal astrocyte morphology	324	APC	ORPHA:99818
HP:0100707	Abnormal astrocyte morphology	324	APC	OMIM:175100
HP:0100707	Abnormal astrocyte morphology	324	APC	ORPHA:247806
HP:0100707	Abnormal astrocyte morphology	324	APC	ORPHA:79665
HP:0100707	Abnormal astrocyte morphology	4292	MLH1	OMIM:276300
HP:0100707	Abnormal astrocyte morphology	64324	NSD1	ORPHA:821
HP:0100707	Abnormal astrocyte morphology	29072	SETD2	ORPHA:821
HP:0100707	Abnormal astrocyte morphology	10297	APC2	ORPHA:821
HP:0100707	Abnormal astrocyte morphology	4193	MDM2	ORPHA:524
HP:0100707	Abnormal astrocyte morphology	11200	CHEK2	ORPHA:524
HP:0100707	Abnormal astrocyte morphology	5395	PMS2	OMIM:619101
HP:0100707	Abnormal astrocyte morphology	4437	MSH3	OMIM:617100
HP:0100707	Abnormal astrocyte morphology	4437	MSH3	ORPHA:480536
HP:0100707	Abnormal astrocyte morphology	2260	FGFR1	OMIM:613001
HP:0100707	Abnormal astrocyte morphology	7248	TSC1	OMIM:191100
HP:0100707	Abnormal astrocyte morphology	3418	IDH2	ORPHA:163634
HP:0100707	Abnormal astrocyte morphology	675	BRCA2	OMIM:613029
HP:0100707	Abnormal astrocyte morphology	4771	NF2	ORPHA:637
HP:0100707	Abnormal astrocyte morphology	4771	NF2	OMIM:101000
HP:0100707	Abnormal astrocyte morphology	9131	AIFM1	ORPHA:83629
HP:0100709	Reduction of oligodendroglia	5354	PLP1	OMIM:312080
HP:4000004	Myocardial late gadolinium enhancement	80206	FHOD3	OMIM:619402
HP:4000001	Abnormal cardiac magnetic resonance imaging finding	80206	FHOD3	OMIM:619402
HP:4000007	Bronchoconstriction	2588	GALNS	OMIM:253000
HP:4000007	Bronchoconstriction	154	ADRB2	OMIM:600807
HP:4000007	Bronchoconstriction	240	ALOX5	OMIM:600807
HP:4000007	Bronchoconstriction	7941	PLA2G7	OMIM:600807
HP:4000007	Bronchoconstriction	6356	CCL11	OMIM:600807
HP:4000007	Bronchoconstriction	7124	TNF	OMIM:600807
HP:4000007	Bronchoconstriction	3176	HNMT	OMIM:600807
HP:4000007	Bronchoconstriction	4589	MUC7	OMIM:600807
HP:4000007	Bronchoconstriction	117156	SCGB3A2	OMIM:600807
HP:4000007	Bronchoconstriction	3135	HLA-G	OMIM:600807
HP:4000007	Bronchoconstriction	3596	IL13	OMIM:600807
HP:4000007	Bronchoconstriction	30009	TBX21	OMIM:208550
HP:4000007	Bronchoconstriction	5732	PTGER2	OMIM:208550
HP:4000008	Formation of multiple pronuclei during fertilization	283677	REC114	OMIM:619176
HP:0005758	Basilar impression	22943	DKK1	ORPHA:268882
HP:0005758	Basilar impression	4853	NOTCH2	OMIM:102500
HP:0005758	Basilar impression	26137	ZBTB20	OMIM:259050
HP:0005758	Basilar impression	1277	COL1A1	OMIM:259420
HP:0005758	Basilar impression	1278	COL1A2	OMIM:259420
HP:0005756	Neonatal epiphyseal stippling	10682	EBP	ORPHA:35173
HP:0005756	Neonatal epiphyseal stippling	5573	PRKAR1A	OMIM:101800
HP:0031603	Impaired nasal mucociliary clearance	246176	GAS2L2	OMIM:618449
HP:0031605	Abnormality of fundus pigmentation	4595	MUTYH	ORPHA:247798
HP:0031605	Abnormality of fundus pigmentation	324	APC	OMIM:175100
HP:0031605	Abnormality of fundus pigmentation	324	APC	ORPHA:247806
HP:0031605	Abnormality of fundus pigmentation	324	APC	ORPHA:261584
HP:0031605	Abnormality of fundus pigmentation	324	APC	ORPHA:79665
HP:0031605	Abnormality of fundus pigmentation	726	CAPN5	OMIM:193235
HP:0031605	Abnormality of fundus pigmentation	4935	GPR143	OMIM:300500
HP:0031605	Abnormality of fundus pigmentation	4547	MTTP	ORPHA:14
HP:0031605	Abnormality of fundus pigmentation	57724	EPG5	OMIM:242840
HP:0031605	Abnormality of fundus pigmentation	7299	TYR	OMIM:606952
HP:0031605	Abnormality of fundus pigmentation	1910	EDNRB	OMIM:600501
HP:0031605	Abnormality of fundus pigmentation	1121	CHM	OMIM:303100
HP:0031605	Abnormality of fundus pigmentation	374654	KIF7	OMIM:200990
HP:0031605	Abnormality of fundus pigmentation	26258	BLOC1S6	OMIM:614171
HP:0031605	Abnormality of fundus pigmentation	5077	PAX3	OMIM:193500
HP:0031605	Abnormality of fundus pigmentation	778	CACNA1F	ORPHA:178333
HP:0031605	Abnormality of fundus pigmentation	6663	SOX10	OMIM:611584
HP:0031605	Abnormality of fundus pigmentation	4286	MITF	OMIM:103500
HP:0031605	Abnormality of fundus pigmentation	4948	OCA2	OMIM:203200
HP:0031605	Abnormality of fundus pigmentation	4157	MC1R	OMIM:203200
HP:0031605	Abnormality of fundus pigmentation	1282	COL4A1	OMIM:175780
HP:0031605	Abnormality of fundus pigmentation	51151	SLC45A2	OMIM:606574
HP:0031605	Abnormality of fundus pigmentation	3913	LAMB2	OMIM:609049
HP:0031605	Abnormality of fundus pigmentation	10166	SLC25A15	OMIM:238970
HP:0031605	Abnormality of fundus pigmentation	2202	EFEMP1	ORPHA:75376
HP:0031605	Abnormality of fundus pigmentation	2202	EFEMP1	OMIM:126600
HP:0031605	Abnormality of fundus pigmentation	3075	CFH	ORPHA:75376
HP:0031605	Abnormality of fundus pigmentation	3426	CFI	ORPHA:75376
HP:0031605	Abnormality of fundus pigmentation	5456	POU3F4	ORPHA:1435
HP:0031605	Abnormality of fundus pigmentation	2677	GGCX	ORPHA:436274
HP:0031605	Abnormality of fundus pigmentation	3000	GUCY2D	ORPHA:75377
HP:0031605	Abnormality of fundus pigmentation	2978	GUCA1A	ORPHA:75377
HP:0031605	Abnormality of fundus pigmentation	7249	TSC2	OMIM:613254
HP:0031605	Abnormality of fundus pigmentation	3458	IFNG	OMIM:613254
HP:0031605	Abnormality of fundus pigmentation	7248	TSC1	OMIM:191100
HP:0031605	Abnormality of fundus pigmentation	84100	ARL6	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	9227	LRAT	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	5949	RBP3	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	7401	CLRN1	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	5148	PDE6G	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	1259	CNGA1	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	23746	AIPL1	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	6094	ROM1	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	1406	CRX	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	157657	CFAP418	OMIM:268000
HP:0031605	Abnormality of fundus pigmentation	5961	PRPH2	ORPHA:52427
HP:0031605	Abnormality of fundus pigmentation	6017	RLBP1	ORPHA:52427
HP:0031605	Abnormality of fundus pigmentation	6010	RHO	ORPHA:52427
HP:0031605	Abnormality of fundus pigmentation	5959	RDH5	ORPHA:52427
HP:0005764	Polyarticular arthritis	5293	PIK3CD	OMIM:619281
HP:0005764	Polyarticular arthritis	4210	MEFV	OMIM:134610
HP:0005764	Polyarticular arthritis	1758	DMP1	ORPHA:289176
HP:0005764	Polyarticular arthritis	5167	ENPP1	ORPHA:289176
HP:0005764	Polyarticular arthritis	22861	NLRP1	OMIM:617388
HP:0005764	Polyarticular arthritis	114548	NLRP3	OMIM:191900
HP:0005764	Polyarticular arthritis	7128	TNFAIP3	OMIM:616744
HP:0005764	Polyarticular arthritis	6774	STAT3	OMIM:615952
HP:0005764	Polyarticular arthritis	7132	TNFRSF1A	OMIM:142680
HP:0005764	Polyarticular arthritis	26525	IL36RN	OMIM:614204
HP:0005764	Polyarticular arthritis	6583	SLC22A4	OMIM:180300
HP:0005764	Polyarticular arthritis	26191	PTPN22	OMIM:180300
HP:0005764	Polyarticular arthritis	4261	CIITA	OMIM:180300
HP:0005764	Polyarticular arthritis	51744	CD244	OMIM:180300
HP:0005764	Polyarticular arthritis	4795	NFKBIL1	OMIM:180300
HP:0005764	Polyarticular arthritis	3586	IL10	OMIM:180300
HP:0005764	Polyarticular arthritis	64127	NOD2	ORPHA:90340
HP:0100710	Impulsivity	57526	PCDH19	ORPHA:101039
HP:0100710	Impulsivity	57526	PCDH19	ORPHA:33069
HP:0100710	Impulsivity	7874	USP7	ORPHA:500055
HP:0100710	Impulsivity	23013	SPEN	OMIM:619312
HP:0100710	Impulsivity	8367	H4C5	OMIM:619950
HP:0100710	Impulsivity	139411	PTCHD1	OMIM:300830
HP:0100710	Impulsivity	56896	DPYSL5	OMIM:619435
HP:0100710	Impulsivity	22866	CNKSR2	OMIM:301008
HP:0100710	Impulsivity	22866	CNKSR2	ORPHA:442835
HP:0100710	Impulsivity	6711	SPTBN1	OMIM:619475
HP:0100710	Impulsivity	1387	CREBBP	OMIM:180849
HP:0100710	Impulsivity	1387	CREBBP	ORPHA:353281
HP:0100710	Impulsivity	1387	CREBBP	ORPHA:353277
HP:0100710	Impulsivity	2033	EP300	OMIM:180849
HP:0100710	Impulsivity	2033	EP300	ORPHA:353284
HP:0100710	Impulsivity	1213	CLTC	OMIM:617854
HP:0100710	Impulsivity	1213	CLTC	ORPHA:442835
HP:0100710	Impulsivity	51126	NAA20	OMIM:619717
HP:0100710	Impulsivity	773	CACNA1A	ORPHA:2131
HP:0100710	Impulsivity	773	CACNA1A	ORPHA:442835
HP:0100710	Impulsivity	6507	SLC1A3	ORPHA:2131
HP:0100710	Impulsivity	477	ATP1A2	ORPHA:2131
HP:0100710	Impulsivity	477	ATP1A2	ORPHA:442835
HP:0100710	Impulsivity	478	ATP1A3	ORPHA:2131
HP:0100710	Impulsivity	478	ATP1A3	ORPHA:442835
HP:0100710	Impulsivity	6335	SCN9A	ORPHA:33069
HP:0100710	Impulsivity	6326	SCN2A	ORPHA:33069
HP:0100710	Impulsivity	2554	GABRA1	ORPHA:33069
HP:0100710	Impulsivity	6323	SCN1A	ORPHA:33069
HP:0100710	Impulsivity	6324	SCN1B	ORPHA:33069
HP:0100710	Impulsivity	2566	GABRG2	ORPHA:33069
HP:0100710	Impulsivity	2566	GABRG2	ORPHA:442835
HP:0100710	Impulsivity	81839	VANGL1	ORPHA:3027
HP:0100710	Impulsivity	80199	FUZ	ORPHA:3027
HP:0100710	Impulsivity	10093	ARPC4	OMIM:620141
HP:0100710	Impulsivity	2731	GLDC	OMIM:605899
HP:0100710	Impulsivity	275	AMT	OMIM:605899
HP:0100710	Impulsivity	7343	UBTF	ORPHA:500180
HP:0100710	Impulsivity	79783	SUGCT	ORPHA:35706
HP:0100710	Impulsivity	2334	AFF2	ORPHA:100973
HP:0100710	Impulsivity	2334	AFF2	OMIM:309548
HP:0100710	Impulsivity	4841	NONO	OMIM:300967
HP:0100710	Impulsivity	113179	ADAT3	ORPHA:363528
HP:0100710	Impulsivity	28514	DLL1	ORPHA:280195
HP:0100710	Impulsivity	2253	FGF8	ORPHA:280195
HP:0100710	Impulsivity	6496	SIX3	ORPHA:280195
HP:0100710	Impulsivity	7050	TGIF1	ORPHA:280195
HP:0100710	Impulsivity	4838	NODAL	ORPHA:280195
HP:0100710	Impulsivity	6469	SHH	ORPHA:280195
HP:0100710	Impulsivity	7546	ZIC2	ORPHA:280195
HP:0100710	Impulsivity	6491	STIL	ORPHA:280195
HP:0100710	Impulsivity	2619	GAS1	ORPHA:280195
HP:0100710	Impulsivity	84976	DISP1	ORPHA:280195
HP:0100710	Impulsivity	2736	GLI2	ORPHA:280195
HP:0100710	Impulsivity	8928	FOXH1	ORPHA:280195
HP:0100710	Impulsivity	5727	PTCH1	ORPHA:280195
HP:0100710	Impulsivity	50937	CDON	ORPHA:280195
HP:0100710	Impulsivity	23291	FBXW11	OMIM:618914
HP:0100710	Impulsivity	3097	HIVEP2	OMIM:616977
HP:0100710	Impulsivity	1786	DNMT1	OMIM:614116
HP:0100710	Impulsivity	10847	SRCAP	ORPHA:2044
HP:0100710	Impulsivity	57082	KNL1	OMIM:604321
HP:0100710	Impulsivity	284403	WDR62	OMIM:604317
HP:0100710	Impulsivity	64601	VPS16	OMIM:619291
HP:0100710	Impulsivity	80025	PANK2	ORPHA:216873
HP:0100710	Impulsivity	4128	MAOA	OMIM:300615
HP:0100710	Impulsivity	2562	GABRB3	OMIM:617113
HP:0100710	Impulsivity	4137	MAPT	ORPHA:240071
HP:0100710	Impulsivity	63035	BCORL1	OMIM:301029
HP:0100710	Impulsivity	4781	NFIB	OMIM:618286
HP:0100710	Impulsivity	55023	PHIP	OMIM:617991
HP:0100710	Impulsivity	55023	PHIP	ORPHA:589905
HP:0100710	Impulsivity	54551	MAGEL2	ORPHA:398069
HP:0100710	Impulsivity	54551	MAGEL2	OMIM:615547
HP:0100710	Impulsivity	3458	IFNG	ORPHA:805
HP:0100710	Impulsivity	7248	TSC1	ORPHA:805
HP:0100710	Impulsivity	7249	TSC2	ORPHA:805
HP:0100710	Impulsivity	284058	KANSL1	OMIM:610443
HP:0100710	Impulsivity	2629	GBA1	ORPHA:411602
HP:0100710	Impulsivity	23317	DNAJC13	ORPHA:411602
HP:0100710	Impulsivity	1981	EIF4G1	ORPHA:411602
HP:0100710	Impulsivity	55737	VPS35	ORPHA:411602
HP:0100710	Impulsivity	120892	LRRK2	ORPHA:411602
HP:0100710	Impulsivity	120892	LRRK2	ORPHA:2828
HP:0100710	Impulsivity	26058	GIGYF2	ORPHA:411602
HP:0100710	Impulsivity	6622	SNCA	ORPHA:411602
HP:0100710	Impulsivity	6622	SNCA	ORPHA:2828
HP:0100710	Impulsivity	8398	PLA2G6	ORPHA:35069
HP:0100710	Impulsivity	8398	PLA2G6	OMIM:610217
HP:0100710	Impulsivity	1000	CDH2	OMIM:618929
HP:0100710	Impulsivity	4914	NTRK1	ORPHA:642
HP:0100710	Impulsivity	2898	GRIK2	OMIM:619580
HP:0100710	Impulsivity	5422	POLA1	OMIM:301030
HP:0100710	Impulsivity	11141	IL1RAPL1	OMIM:300143
HP:0100710	Impulsivity	5649	RELN	ORPHA:101046
HP:0100710	Impulsivity	9211	LGI1	ORPHA:101046
HP:0100710	Impulsivity	9681	DEPDC5	ORPHA:101046
HP:0100710	Impulsivity	84274	COQ5	OMIM:619028
HP:0100710	Impulsivity	83636	C19orf12	OMIM:614298
HP:0100710	Impulsivity	341208	HEPHL1	OMIM:261990
HP:0100710	Impulsivity	22995	CEP152	OMIM:614852
HP:0100710	Impulsivity	2783	GNB2	OMIM:619503
HP:0100710	Impulsivity	54832	VPS13C	ORPHA:2828
HP:0100710	Impulsivity	11315	PARK7	ORPHA:2828
HP:0100710	Impulsivity	7345	UCHL1	ORPHA:2828
HP:0100710	Impulsivity	27429	HTRA2	ORPHA:2828
HP:0100710	Impulsivity	9829	DNAJC6	ORPHA:2828
HP:0100710	Impulsivity	5420	PODXL	ORPHA:2828
HP:0100710	Impulsivity	65018	PINK1	ORPHA:2828
HP:0100710	Impulsivity	8867	SYNJ1	ORPHA:2828
HP:0100710	Impulsivity	8867	SYNJ1	ORPHA:442835
HP:0100710	Impulsivity	5071	PRKN	ORPHA:2828
HP:0100710	Impulsivity	2903	GRIN2A	ORPHA:98818
HP:0100710	Impulsivity	3737	KCNA2	ORPHA:442835
HP:0100710	Impulsivity	1759	DNM1	ORPHA:442835
HP:0100710	Impulsivity	8120	AP3B2	ORPHA:442835
HP:0100710	Impulsivity	523	ATP6V1A	ORPHA:442835
HP:0100710	Impulsivity	10991	SLC38A3	ORPHA:442835
HP:0100710	Impulsivity	51343	FZR1	ORPHA:442835
HP:0100710	Impulsivity	22906	TRAK1	ORPHA:442835
HP:0100710	Impulsivity	1917	EEF1A2	ORPHA:442835
HP:0100710	Impulsivity	2561	GABRB2	ORPHA:442835
HP:0100710	Impulsivity	8831	SYNGAP1	ORPHA:442835
HP:0100710	Impulsivity	7532	YWHAG	ORPHA:442835
HP:0100710	Impulsivity	79876	UBA5	ORPHA:442835
HP:0100710	Impulsivity	6328	SCN3A	ORPHA:442835
HP:0100710	Impulsivity	2558	GABRA5	ORPHA:442835
HP:0100710	Impulsivity	781	CACNA2D1	ORPHA:442835
HP:0100710	Impulsivity	2906	GRIN2D	ORPHA:442835
HP:0100710	Impulsivity	116150	NUS1	ORPHA:442835
HP:0100710	Impulsivity	10659	CELF2	ORPHA:442835
HP:0100710	Impulsivity	774	CACNA1B	ORPHA:442835
HP:0100710	Impulsivity	51741	WWOX	ORPHA:442835
HP:0100710	Impulsivity	23334	SZT2	ORPHA:442835
HP:0100710	Impulsivity	51412	ACTL6B	ORPHA:442835
HP:0100710	Impulsivity	348980	HCN1	ORPHA:442835
HP:0100710	Impulsivity	6506	SLC1A2	ORPHA:442835
HP:0100710	Impulsivity	2258	FGF13	ORPHA:442835
HP:0100710	Impulsivity	3745	KCNB1	ORPHA:442835
HP:0100710	Impulsivity	284111	SLC13A5	ORPHA:442835
HP:0100710	Impulsivity	25977	NECAP1	ORPHA:442835
HP:0100710	Impulsivity	16	AARS1	ORPHA:442835
HP:0100710	Impulsivity	6334	SCN8A	ORPHA:442835
HP:0100710	Impulsivity	9568	GABBR2	ORPHA:442835
HP:0100710	Impulsivity	2555	GABRA2	ORPHA:442835
HP:0100710	Impulsivity	55152	DALRD3	ORPHA:442835
HP:0100710	Impulsivity	26999	CYFIP2	ORPHA:442835
HP:0100710	Impulsivity	4915	NTRK2	ORPHA:442835
HP:0100710	Impulsivity	25973	PARS2	ORPHA:442835
HP:0100710	Impulsivity	23097	CDK19	ORPHA:442835
HP:0100710	Impulsivity	64801	ARV1	ORPHA:442835
HP:0100710	Impulsivity	79947	DHDDS	ORPHA:442835
HP:0100710	Impulsivity	2257	FGF12	ORPHA:442835
HP:0100710	Impulsivity	5530	PPP3CA	ORPHA:442835
HP:0100710	Impulsivity	339453	TMEM240	OMIM:607454
HP:0100711	Abnormal thoracic spine morphology	54808	DYM	OMIM:223800
HP:0100711	Abnormal thoracic spine morphology	22827	PUF60	ORPHA:508498
HP:0100711	Abnormal thoracic spine morphology	6399	TRAPPC2	ORPHA:93284
HP:0100711	Abnormal thoracic spine morphology	4784	NFIX	OMIM:602535
HP:0100711	Abnormal thoracic spine morphology	65082	VPS33A	ORPHA:505248
HP:0100711	Abnormal thoracic spine morphology	9131	AIFM1	OMIM:300232
HP:0100711	Abnormal thoracic spine morphology	4677	NARS1	OMIM:619092
HP:0100711	Abnormal thoracic spine morphology	339855	KY	OMIM:617114
HP:0100711	Abnormal thoracic spine morphology	5286	PIK3C2A	OMIM:618440
HP:0100711	Abnormal thoracic spine morphology	5286	PIK3C2A	ORPHA:557003
HP:0100711	Abnormal thoracic spine morphology	124997	WDR81	OMIM:610185
HP:0100711	Abnormal thoracic spine morphology	1593	CYP27A1	ORPHA:909
HP:0100711	Abnormal thoracic spine morphology	5593	PRKG2	OMIM:619638
HP:0100711	Abnormal thoracic spine morphology	29123	ANKRD11	ORPHA:2332
HP:0100711	Abnormal thoracic spine morphology	29123	ANKRD11	OMIM:148050
HP:0100711	Abnormal thoracic spine morphology	404672	GTF2H5	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	833	CARS1	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	2068	ERCC2	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	7737	RNF113A	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	136647	MPLKIP	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	6897	TARS1	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	2071	ERCC3	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	2961	GTF2E2	ORPHA:33364
HP:0100711	Abnormal thoracic spine morphology	59341	TRPV4	ORPHA:93314
HP:0100711	Abnormal thoracic spine morphology	79583	TMEM231	ORPHA:2752
HP:0100711	Abnormal thoracic spine morphology	4796	TONSL	OMIM:271510
HP:0100711	Abnormal thoracic spine morphology	224	ALDH3A2	OMIM:270200
HP:0100711	Abnormal thoracic spine morphology	23133	PHF8	OMIM:300263
HP:0100711	Abnormal thoracic spine morphology	6261	RYR1	OMIM:619542
HP:0100711	Abnormal thoracic spine morphology	164	AP1G1	OMIM:619467
HP:0100711	Abnormal thoracic spine morphology	6023	RMRP	OMIM:607095
HP:0100711	Abnormal thoracic spine morphology	64132	XYLT2	ORPHA:85194
HP:0100711	Abnormal thoracic spine morphology	50485	SMARCAL1	OMIM:242900
HP:0100711	Abnormal thoracic spine morphology	79644	SRD5A3	OMIM:612713
HP:0100711	Abnormal thoracic spine morphology	1756	DMD	ORPHA:206546
HP:0100711	Abnormal thoracic spine morphology	5296	PIK3R2	OMIM:603387
HP:0100711	Abnormal thoracic spine morphology	7840	ALMS1	ORPHA:64
HP:0100711	Abnormal thoracic spine morphology	91574	MTRFR	ORPHA:254930
HP:0100711	Abnormal thoracic spine morphology	3094	HINT1	ORPHA:324442
HP:0100711	Abnormal thoracic spine morphology	84665	MYPN	ORPHA:171881
HP:0100711	Abnormal thoracic spine morphology	7169	TPM2	ORPHA:171881
HP:0100711	Abnormal thoracic spine morphology	7170	TPM3	ORPHA:171881
HP:0100711	Abnormal thoracic spine morphology	165	AEBP1	OMIM:618000
HP:0100711	Abnormal thoracic spine morphology	165	AEBP1	ORPHA:536532
HP:0100711	Abnormal thoracic spine morphology	10381	TUBB3	ORPHA:300570
HP:0100711	Abnormal thoracic spine morphology	4625	MYH7	OMIM:255160
HP:0100711	Abnormal thoracic spine morphology	7841	MOGS	OMIM:606056
HP:0100711	Abnormal thoracic spine morphology	7841	MOGS	ORPHA:79330
HP:0100711	Abnormal thoracic spine morphology	6442	SGCA	ORPHA:62
HP:0100711	Abnormal thoracic spine morphology	5351	PLOD1	ORPHA:1900
HP:0100711	Abnormal thoracic spine morphology	8085	KMT2D	OMIM:620186
HP:0100711	Abnormal thoracic spine morphology	157680	VPS13B	OMIM:216550
HP:0100711	Abnormal thoracic spine morphology	10613	ERLIN1	ORPHA:401785
HP:0100711	Abnormal thoracic spine morphology	10613	ERLIN1	OMIM:615681
HP:0100711	Abnormal thoracic spine morphology	6910	TBX5	OMIM:142900
HP:0100711	Abnormal thoracic spine morphology	10733	PLK4	OMIM:616171
HP:0100711	Abnormal thoracic spine morphology	91754	NEK9	OMIM:617022
HP:0100711	Abnormal thoracic spine morphology	55969	RAB5IF	OMIM:616994
HP:0100711	Abnormal thoracic spine morphology	6662	SOX9	OMIM:114290
HP:0100711	Abnormal thoracic spine morphology	25782	RAB3GAP2	OMIM:212720
HP:0100711	Abnormal thoracic spine morphology	9573	GDF3	OMIM:613702
HP:0100711	Abnormal thoracic spine morphology	9531	BAG3	OMIM:612954
HP:0100711	Abnormal thoracic spine morphology	871	SERPINH1	OMIM:613848
HP:0100711	Abnormal thoracic spine morphology	5830	PEX5	OMIM:616716
HP:0100711	Abnormal thoracic spine morphology	2799	GNS	OMIM:252940
HP:0100711	Abnormal thoracic spine morphology	9382	COG1	OMIM:611209
HP:0100711	Abnormal thoracic spine morphology	5932	RBBP8	OMIM:251255
HP:0100711	Abnormal thoracic spine morphology	8838	CCN6	ORPHA:1159
HP:0100711	Abnormal thoracic spine morphology	1836	SLC26A2	ORPHA:56304
HP:0100711	Abnormal thoracic spine morphology	1009	CDH11	ORPHA:1299
HP:0100711	Abnormal thoracic spine morphology	25871	NEPRO	OMIM:618853
HP:0100711	Abnormal thoracic spine morphology	10940	POP1	OMIM:617396
HP:0100711	Abnormal thoracic spine morphology	4247	MGAT2	OMIM:212066
HP:0100711	Abnormal thoracic spine morphology	8022	LHX3	ORPHA:231720
HP:0100711	Abnormal thoracic spine morphology	79158	GNPTAB	OMIM:252500
HP:0100711	Abnormal thoracic spine morphology	4882	NPR2	OMIM:602875
HP:0100711	Abnormal thoracic spine morphology	139285	AMER1	OMIM:300373
HP:0100711	Abnormal thoracic spine morphology	2137	EXTL3	ORPHA:508533
HP:0100711	Abnormal thoracic spine morphology	2137	EXTL3	OMIM:617425
HP:0100711	Abnormal thoracic spine morphology	2317	FLNB	ORPHA:56305
HP:0100711	Abnormal thoracic spine morphology	2261	FGFR3	ORPHA:15
HP:0100711	Abnormal thoracic spine morphology	3835	KIF22	ORPHA:93360
HP:0100711	Abnormal thoracic spine morphology	116931	MED12L	OMIM:618872
HP:0100711	Abnormal thoracic spine morphology	1280	COL2A1	OMIM:151210
HP:0100711	Abnormal thoracic spine morphology	2629	GBA1	ORPHA:2072
HP:0100711	Abnormal thoracic spine morphology	4125	MAN2B1	OMIM:248500
HP:0100711	Abnormal thoracic spine morphology	2990	GUSB	OMIM:253220
HP:0100711	Abnormal thoracic spine morphology	23219	FBXO28	OMIM:619777
HP:0100711	Abnormal thoracic spine morphology	3930	LBR	OMIM:618019
HP:0100711	Abnormal thoracic spine morphology	2720	GLB1	OMIM:230600
HP:0100711	Abnormal thoracic spine morphology	6660	SOX5	ORPHA:313892
HP:0100711	Abnormal thoracic spine morphology	7703	PCGF2	OMIM:618371
HP:0100711	Abnormal thoracic spine morphology	83932	SPRTN	OMIM:616200
HP:0100711	Abnormal thoracic spine morphology	579	NKX3-2	OMIM:613330
HP:0100711	Abnormal thoracic spine morphology	83737	ITCH	OMIM:613385
HP:0100711	Abnormal thoracic spine morphology	1674	DES	ORPHA:98909
HP:0100711	Abnormal thoracic spine morphology	4000	LMNA	ORPHA:1662
HP:0100711	Abnormal thoracic spine morphology	10269	ZMPSTE24	ORPHA:1662
HP:0100711	Abnormal thoracic spine morphology	55699	IARS2	ORPHA:436174
HP:0100711	Abnormal thoracic spine morphology	57211	ADGRG6	OMIM:616503
HP:0100711	Abnormal thoracic spine morphology	29920	PYCR2	ORPHA:481152
HP:0100711	Abnormal thoracic spine morphology	6329	SCN4A	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	1134	CHRNA1	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	4038	LRP4	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	1305	COL13A1	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	1140	CHRNB1	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	1144	CHRND	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	1145	CHRNE	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	4593	MUSK	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	5913	RAPSN	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	375790	AGRN	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	221264	AK9	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	285489	DOK7	ORPHA:98913
HP:0100711	Abnormal thoracic spine morphology	6309	SC5D	ORPHA:46059
HP:0100711	Abnormal thoracic spine morphology	2313	FLI1	ORPHA:370348
HP:0100712	Abnormal lumbar spine morphology	8838	CCN6	ORPHA:1159
HP:0100712	Abnormal lumbar spine morphology	1836	SLC26A2	ORPHA:56304
HP:0100712	Abnormal lumbar spine morphology	1009	CDH11	ORPHA:1299
HP:0100712	Abnormal lumbar spine morphology	25871	NEPRO	OMIM:618853
HP:0100712	Abnormal lumbar spine morphology	10940	POP1	OMIM:617396
HP:0100712	Abnormal lumbar spine morphology	4247	MGAT2	OMIM:212066
HP:0100712	Abnormal lumbar spine morphology	8022	LHX3	ORPHA:231720
HP:0100712	Abnormal lumbar spine morphology	79158	GNPTAB	OMIM:252500
HP:0100712	Abnormal lumbar spine morphology	10533	ATG7	OMIM:619422
HP:0100712	Abnormal lumbar spine morphology	139285	AMER1	OMIM:300373
HP:0100712	Abnormal lumbar spine morphology	2137	EXTL3	ORPHA:508533
HP:0100712	Abnormal lumbar spine morphology	2137	EXTL3	OMIM:617425
HP:0100712	Abnormal lumbar spine morphology	2317	FLNB	ORPHA:56305
HP:0100712	Abnormal lumbar spine morphology	2261	FGFR3	ORPHA:15
HP:0100712	Abnormal lumbar spine morphology	3835	KIF22	ORPHA:93360
HP:0100712	Abnormal lumbar spine morphology	4882	NPR2	OMIM:602875
HP:0100712	Abnormal lumbar spine morphology	116931	MED12L	OMIM:618872
HP:0100712	Abnormal lumbar spine morphology	2629	GBA1	ORPHA:2072
HP:0100712	Abnormal lumbar spine morphology	4125	MAN2B1	OMIM:248500
HP:0100712	Abnormal lumbar spine morphology	2990	GUSB	OMIM:253220
HP:0100712	Abnormal lumbar spine morphology	23219	FBXO28	OMIM:619777
HP:0100712	Abnormal lumbar spine morphology	3930	LBR	OMIM:618019
HP:0100712	Abnormal lumbar spine morphology	2720	GLB1	OMIM:230600
HP:0100712	Abnormal lumbar spine morphology	2588	GALNS	OMIM:253000
HP:0100712	Abnormal lumbar spine morphology	6197	RPS6KA3	OMIM:303600
HP:0100712	Abnormal lumbar spine morphology	65082	VPS33A	ORPHA:505248
HP:0100712	Abnormal lumbar spine morphology	84265	POLR3GL	OMIM:619234
HP:0100712	Abnormal lumbar spine morphology	55719	SLF2	OMIM:620184
HP:0100712	Abnormal lumbar spine morphology	11160	ERLIN2	ORPHA:209951
HP:0100712	Abnormal lumbar spine morphology	11160	ERLIN2	ORPHA:280384
HP:0100712	Abnormal lumbar spine morphology	4914	NTRK1	ORPHA:642
HP:0100712	Abnormal lumbar spine morphology	6399	TRAPPC2	ORPHA:93284
HP:0100712	Abnormal lumbar spine morphology	1280	COL2A1	ORPHA:166011
HP:0100712	Abnormal lumbar spine morphology	168667	BMPER	OMIM:608022
HP:0100712	Abnormal lumbar spine morphology	6309	SC5D	OMIM:607330
HP:0011314	Abnormal long bone morphology	4591	TRIM37	OMIM:253250
HP:0011314	Abnormal long bone morphology	118429	ANTXR2	ORPHA:2028
HP:0011314	Abnormal long bone morphology	5896	RAG1	ORPHA:39041
HP:0011314	Abnormal long bone morphology	5897	RAG2	ORPHA:39041
HP:0011314	Abnormal long bone morphology	64421	DCLRE1C	ORPHA:39041
HP:0011314	Abnormal long bone morphology	3575	IL7R	ORPHA:39041
HP:0011314	Abnormal long bone morphology	3561	IL2RG	ORPHA:39041
HP:0011314	Abnormal long bone morphology	23630	KCNE5	ORPHA:86818
HP:0011314	Abnormal long bone morphology	2182	ACSL4	ORPHA:86818
HP:0011314	Abnormal long bone morphology	4854	NOTCH3	ORPHA:2591
HP:0011314	Abnormal long bone morphology	3418	IDH2	ORPHA:296
HP:0011314	Abnormal long bone morphology	84168	ANTXR1	ORPHA:2067
HP:0011314	Abnormal long bone morphology	50628	GEMIN4	OMIM:617913
HP:0011314	Abnormal long bone morphology	55858	TMEM165	OMIM:614727
HP:0011314	Abnormal long bone morphology	411	ARSB	OMIM:253200
HP:0011314	Abnormal long bone morphology	9451	EIF2AK3	OMIM:226980
HP:0011314	Abnormal long bone morphology	3313	HSPA9	OMIM:616854
HP:0011314	Abnormal long bone morphology	1806	DPYD	ORPHA:1675
HP:0011314	Abnormal long bone morphology	1028	CDKN1C	OMIM:614732
HP:0011314	Abnormal long bone morphology	2799	GNS	OMIM:252940
HP:0011314	Abnormal long bone morphology	65992	DDRGK1	OMIM:602557
HP:0011314	Abnormal long bone morphology	65992	DDRGK1	ORPHA:93352
HP:0011314	Abnormal long bone morphology	1184	CLCN5	OMIM:300554
HP:0011314	Abnormal long bone morphology	1184	CLCN5	OMIM:300009
HP:0011314	Abnormal long bone morphology	142680	SLC34A3	OMIM:241530
HP:0011314	Abnormal long bone morphology	55699	IARS2	OMIM:616007
HP:0011314	Abnormal long bone morphology	23761	PISD	OMIM:618889
HP:0011314	Abnormal long bone morphology	5745	PTH1R	ORPHA:79106
HP:0011314	Abnormal long bone morphology	5745	PTH1R	OMIM:600002
HP:0011314	Abnormal long bone morphology	2099	ESR1	ORPHA:785
HP:0011314	Abnormal long bone morphology	7421	VDR	OMIM:277440
HP:0011314	Abnormal long bone morphology	406932	MIR140	OMIM:618618
HP:0011314	Abnormal long bone morphology	1588	CYP19A1	ORPHA:91
HP:0011314	Abnormal long bone morphology	374654	KIF7	ORPHA:166024
HP:0011314	Abnormal long bone morphology	2879	GPX4	OMIM:250220
HP:0011314	Abnormal long bone morphology	1497	CTNS	OMIM:219800
HP:0011314	Abnormal long bone morphology	875	CBS	ORPHA:394
HP:0011314	Abnormal long bone morphology	51256	TBC1D7	OMIM:248000
HP:0011314	Abnormal long bone morphology	7360	UGP2	OMIM:618744
HP:0011314	Abnormal long bone morphology	10992	SF3B2	OMIM:164210
HP:0011314	Abnormal long bone morphology	58	ACTA1	ORPHA:171436
HP:0011314	Abnormal long bone morphology	7169	TPM2	ORPHA:171436
HP:0011314	Abnormal long bone morphology	4703	NEB	ORPHA:171436
HP:0011314	Abnormal long bone morphology	10324	KLHL41	ORPHA:171436
HP:0011314	Abnormal long bone morphology	56203	LMOD3	ORPHA:171436
HP:0011314	Abnormal long bone morphology	1073	CFL2	ORPHA:171436
HP:0011314	Abnormal long bone morphology	3021	H3-3B	OMIM:619721
HP:0011314	Abnormal long bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0011314	Abnormal long bone morphology	23322	RPGRIP1L	OMIM:611560
HP:0011314	Abnormal long bone morphology	64324	NSD1	OMIM:117550
HP:0011314	Abnormal long bone morphology	54880	BCOR	ORPHA:2712
HP:0011314	Abnormal long bone morphology	4853	NOTCH2	OMIM:102500
HP:0011314	Abnormal long bone morphology	10381	TUBB3	ORPHA:300570
HP:0011314	Abnormal long bone morphology	83480	PUS3	ORPHA:488627
HP:0011314	Abnormal long bone morphology	5566	PRKACA	ORPHA:289
HP:0011314	Abnormal long bone morphology	5566	PRKACA	OMIM:619142
HP:0011314	Abnormal long bone morphology	5567	PRKACB	ORPHA:289
HP:0011314	Abnormal long bone morphology	5567	PRKACB	OMIM:619143
HP:0011314	Abnormal long bone morphology	2735	GLI1	ORPHA:289
HP:0011314	Abnormal long bone morphology	2735	GLI1	OMIM:618123
HP:0011314	Abnormal long bone morphology	2121	EVC	ORPHA:289
HP:0011314	Abnormal long bone morphology	2121	EVC	OMIM:225500
HP:0011314	Abnormal long bone morphology	51626	DYNC2LI1	ORPHA:289
HP:0011314	Abnormal long bone morphology	132884	EVC2	ORPHA:289
HP:0011314	Abnormal long bone morphology	132884	EVC2	OMIM:225500
HP:0011314	Abnormal long bone morphology	9839	ZEB2	ORPHA:261552
HP:0011314	Abnormal long bone morphology	9839	ZEB2	ORPHA:261537
HP:0011314	Abnormal long bone morphology	5376	PMP22	ORPHA:3115
HP:0011314	Abnormal long bone morphology	4359	MPZ	ORPHA:3115
HP:0011314	Abnormal long bone morphology	3043	HBB	ORPHA:231214
HP:0011314	Abnormal long bone morphology	3043	HBB	ORPHA:231226
HP:0011314	Abnormal long bone morphology	6804	STX1A	ORPHA:904
HP:0011314	Abnormal long bone morphology	7461	CLIP2	ORPHA:904
HP:0011314	Abnormal long bone morphology	84277	DNAJC30	ORPHA:904
HP:0011314	Abnormal long bone morphology	8468	FKBP6	ORPHA:904
HP:0011314	Abnormal long bone morphology	5982	RFC2	ORPHA:904
HP:0011314	Abnormal long bone morphology	2969	GTF2I	ORPHA:904
HP:0011314	Abnormal long bone morphology	3984	LIMK1	ORPHA:904
HP:0011314	Abnormal long bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0011314	Abnormal long bone morphology	155382	VPS37D	ORPHA:904
HP:0011314	Abnormal long bone morphology	155368	METTL27	ORPHA:904
HP:0011314	Abnormal long bone morphology	114049	BUD23	ORPHA:904
HP:0011314	Abnormal long bone morphology	7458	EIF4H	ORPHA:904
HP:0011314	Abnormal long bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0011314	Abnormal long bone morphology	9275	BCL7B	ORPHA:904
HP:0011314	Abnormal long bone morphology	26608	TBL2	ORPHA:904
HP:0011314	Abnormal long bone morphology	653361	NCF1	ORPHA:904
HP:0011314	Abnormal long bone morphology	135886	TMEM270	ORPHA:904
HP:0011314	Abnormal long bone morphology	51085	MLXIPL	ORPHA:904
HP:0011314	Abnormal long bone morphology	9031	BAZ1B	ORPHA:904
HP:0011314	Abnormal long bone morphology	2006	ELN	ORPHA:904
HP:0011314	Abnormal long bone morphology	55027	HEATR3	OMIM:620072
HP:0011314	Abnormal long bone morphology	26137	ZBTB20	OMIM:259050
HP:0011314	Abnormal long bone morphology	23162	MAPK8IP3	OMIM:618443
HP:0011314	Abnormal long bone morphology	9394	HS6ST1	OMIM:614880
HP:0011314	Abnormal long bone morphology	546	ATRX	OMIM:309580
HP:0011314	Abnormal long bone morphology	7994	KAT6A	OMIM:616268
HP:0011314	Abnormal long bone morphology	6497	SKI	ORPHA:2462
HP:0011314	Abnormal long bone morphology	6497	SKI	OMIM:182212
HP:0011314	Abnormal long bone morphology	55081	IFT57	OMIM:617927
HP:0011314	Abnormal long bone morphology	865	CBFB	OMIM:620099
HP:0011314	Abnormal long bone morphology	10466	COG5	ORPHA:263487
HP:0011314	Abnormal long bone morphology	26160	IFT172	OMIM:615630
HP:0011314	Abnormal long bone morphology	23394	ADNP	OMIM:615873
HP:0011314	Abnormal long bone morphology	7681	MKRN3	OMIM:176270
HP:0011314	Abnormal long bone morphology	3653	IPW	OMIM:176270
HP:0011314	Abnormal long bone morphology	791114	PWRN1	OMIM:176270
HP:0011314	Abnormal long bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0011314	Abnormal long bone morphology	8924	HERC2	OMIM:176270
HP:0011314	Abnormal long bone morphology	145624	PWAR1	OMIM:176270
HP:0011314	Abnormal long bone morphology	23742	NPAP1	OMIM:176270
HP:0011314	Abnormal long bone morphology	338433	SNORD115-1	OMIM:176270
HP:0011314	Abnormal long bone morphology	8882	ZPR1	OMIM:619321
HP:0011314	Abnormal long bone morphology	137682	NDUFAF6	OMIM:618913
HP:0011314	Abnormal long bone morphology	55784	MCTP2	ORPHA:1596
HP:0011314	Abnormal long bone morphology	153642	ARSK	OMIM:619698
HP:0011314	Abnormal long bone morphology	84068	SLC10A7	OMIM:618363
HP:0011314	Abnormal long bone morphology	5604	MAP2K1	ORPHA:1340
HP:0011314	Abnormal long bone morphology	5605	MAP2K2	ORPHA:1340
HP:0011314	Abnormal long bone morphology	3845	KRAS	ORPHA:1340
HP:0011314	Abnormal long bone morphology	673	BRAF	ORPHA:1340
HP:0011314	Abnormal long bone morphology	23111	SPART	ORPHA:101000
HP:0011314	Abnormal long bone morphology	54681	P4HTM	OMIM:618493
HP:0011314	Abnormal long bone morphology	1954	MEGF8	ORPHA:65759
HP:0011314	Abnormal long bone morphology	6424	SFRP4	OMIM:265900
HP:0011314	Abnormal long bone morphology	10526	IPO8	OMIM:619472
HP:0011314	Abnormal long bone morphology	6711	SPTBN1	OMIM:619475
HP:0011314	Abnormal long bone morphology	2588	GALNS	OMIM:253000
HP:0011314	Abnormal long bone morphology	80152	CENPT	OMIM:618702
HP:0011314	Abnormal long bone morphology	5184	PEPD	ORPHA:742
HP:0011314	Abnormal long bone morphology	374879	ZNF699	OMIM:619488
HP:0011314	Abnormal long bone morphology	10651	MTX2	OMIM:619127
HP:0011314	Abnormal long bone morphology	8139	GAN	ORPHA:643
HP:0011314	Abnormal long bone morphology	80169	CTC1	OMIM:612199
HP:0011314	Abnormal long bone morphology	284403	WDR62	OMIM:604317
HP:0011314	Abnormal long bone morphology	4052	LTBP1	OMIM:619451
HP:0011314	Abnormal long bone morphology	5442	POLRMT	OMIM:619743
HP:0011314	Abnormal long bone morphology	4091	SMAD6	OMIM:179300
HP:0011314	Abnormal long bone morphology	5648	MASP1	OMIM:257920
HP:0011314	Abnormal long bone morphology	5648	MASP1	ORPHA:293843
HP:0011314	Abnormal long bone morphology	2122	MECOM	ORPHA:71289
HP:0011314	Abnormal long bone morphology	2122	MECOM	OMIM:616738
HP:0011314	Abnormal long bone morphology	78989	COLEC11	OMIM:265050
HP:0011314	Abnormal long bone morphology	78989	COLEC11	ORPHA:293843
HP:0011314	Abnormal long bone morphology	4094	MAF	ORPHA:1272
HP:0011314	Abnormal long bone morphology	4094	MAF	OMIM:601088
HP:0011314	Abnormal long bone morphology	23522	KAT6B	ORPHA:85201
HP:0011314	Abnormal long bone morphology	23522	KAT6B	OMIM:606170
HP:0011314	Abnormal long bone morphology	63895	PIEZO2	OMIM:248700
HP:0011314	Abnormal long bone morphology	63895	PIEZO2	ORPHA:2461
HP:0011314	Abnormal long bone morphology	10584	COLEC10	OMIM:248340
HP:0011314	Abnormal long bone morphology	10584	COLEC10	ORPHA:293843
HP:0011314	Abnormal long bone morphology	50945	TBX22	OMIM:302905
HP:0011314	Abnormal long bone morphology	50945	TBX22	ORPHA:921
HP:0011314	Abnormal long bone morphology	22800	RRAS2	ORPHA:648
HP:0011314	Abnormal long bone morphology	867	CBL	ORPHA:648
HP:0011314	Abnormal long bone morphology	8216	LZTR1	ORPHA:648
HP:0011314	Abnormal long bone morphology	6016	RIT1	ORPHA:648
HP:0011314	Abnormal long bone morphology	6237	RRAS	ORPHA:648
HP:0011314	Abnormal long bone morphology	5894	RAF1	ORPHA:648
HP:0011314	Abnormal long bone morphology	22808	MRAS	ORPHA:648
HP:0011314	Abnormal long bone morphology	200734	SPRED2	ORPHA:648
HP:0011314	Abnormal long bone morphology	4893	NRAS	ORPHA:648
HP:0011314	Abnormal long bone morphology	6654	SOS1	ORPHA:648
HP:0011314	Abnormal long bone morphology	6655	SOS2	ORPHA:648
HP:0011314	Abnormal long bone morphology	5922	RASA2	ORPHA:648
HP:0011314	Abnormal long bone morphology	8074	FGF23	ORPHA:89937
HP:0011314	Abnormal long bone morphology	9060	PAPSS2	OMIM:612847
HP:0011314	Abnormal long bone morphology	1962	EHHADH	OMIM:615605
HP:0011314	Abnormal long bone morphology	6569	SLC34A1	ORPHA:157215
HP:0011314	Abnormal long bone morphology	284086	NEK8	OMIM:615415
HP:0011314	Abnormal long bone morphology	166929	SGMS2	OMIM:126550
HP:0011314	Abnormal long bone morphology	55151	TMEM38B	OMIM:615066
HP:0011314	Abnormal long bone morphology	9158	FIBP	ORPHA:500095
HP:0011314	Abnormal long bone morphology	8218	CLTCL1	ORPHA:453510
HP:0011314	Abnormal long bone morphology	1123	CHN1	ORPHA:233
HP:0011314	Abnormal long bone morphology	28981	IFT81	OMIM:617895
HP:0011314	Abnormal long bone morphology	92002	CCNQ	ORPHA:140952
HP:0011314	Abnormal long bone morphology	2255	FGF10	ORPHA:2363
HP:0011314	Abnormal long bone morphology	6223	RPS19	OMIM:105650
HP:0011314	Abnormal long bone morphology	1576	CYP3A4	OMIM:619073
HP:0011314	Abnormal long bone morphology	11285	B4GALT7	OMIM:130070
HP:0011314	Abnormal long bone morphology	79796	ALG9	ORPHA:79328
HP:0011314	Abnormal long bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0011314	Abnormal long bone morphology	56172	ANKH	OMIM:123000
HP:0011314	Abnormal long bone morphology	28962	OSTM1	OMIM:259720
HP:0011314	Abnormal long bone morphology	65082	VPS33A	OMIM:617303
HP:0011314	Abnormal long bone morphology	4313	MMP2	OMIM:259600
HP:0011314	Abnormal long bone morphology	372	ARCN1	OMIM:617164
HP:0011314	Abnormal long bone morphology	249	ALPL	OMIM:241500
HP:0011314	Abnormal long bone morphology	6154	RPL26	OMIM:614900
HP:0011314	Abnormal long bone morphology	1723	DHODH	OMIM:263750
HP:0011314	Abnormal long bone morphology	1723	DHODH	ORPHA:246
HP:0011314	Abnormal long bone morphology	182	JAG1	OMIM:118450
HP:0011314	Abnormal long bone morphology	324	APC	ORPHA:3258
HP:0011314	Abnormal long bone morphology	567	B2M	OMIM:241600
HP:0011314	Abnormal long bone morphology	55636	CHD7	OMIM:214800
HP:0011314	Abnormal long bone morphology	54870	QRICH1	OMIM:617982
HP:0011314	Abnormal long bone morphology	23387	SIK3	OMIM:618162
HP:0011314	Abnormal long bone morphology	9663	LPIN2	ORPHA:77297
HP:0011314	Abnormal long bone morphology	26503	SLC17A5	OMIM:269920
HP:0011314	Abnormal long bone morphology	846	CASR	OMIM:239200
HP:0011314	Abnormal long bone morphology	89891	DYNC2I2	OMIM:615633
HP:0011314	Abnormal long bone morphology	347734	SLC35B2	OMIM:620269
HP:0011314	Abnormal long bone morphology	90993	CREB3L1	OMIM:616229
HP:0011314	Abnormal long bone morphology	222663	SCUBE3	OMIM:619184
HP:0011314	Abnormal long bone morphology	3572	IL6ST	OMIM:619751
HP:0011314	Abnormal long bone morphology	79809	TTC21B	OMIM:613819
HP:0011314	Abnormal long bone morphology	2690	GHR	OMIM:262500
HP:0011314	Abnormal long bone morphology	55191	NADSYN1	OMIM:618845
HP:0011314	Abnormal long bone morphology	57539	WDR35	OMIM:614091
HP:0011314	Abnormal long bone morphology	55112	DYNC2I1	OMIM:615503
HP:0011314	Abnormal long bone morphology	112752	IFT43	OMIM:617866
HP:0011314	Abnormal long bone morphology	1436	CSF1R	OMIM:618476
HP:0011314	Abnormal long bone morphology	760	CA2	OMIM:259730
HP:0011314	Abnormal long bone morphology	3899	AFF3	OMIM:619297
HP:0011314	Abnormal long bone morphology	6904	TBCD	ORPHA:496641
HP:0011314	Abnormal long bone morphology	8878	SQSTM1	OMIM:167250
HP:0011314	Abnormal long bone morphology	9653	HS2ST1	OMIM:619194
HP:0011314	Abnormal long bone morphology	8985	PLOD3	OMIM:612394
HP:0011314	Abnormal long bone morphology	2720	GLB1	OMIM:253010
HP:0011314	Abnormal long bone morphology	9469	CHST3	OMIM:143095
HP:0011314	Abnormal long bone morphology	2137	EXTL3	OMIM:617425
HP:0011314	Abnormal long bone morphology	6399	TRAPPC2	OMIM:313400
HP:0011314	Abnormal long bone morphology	50485	SMARCAL1	OMIM:242900
HP:0011314	Abnormal long bone morphology	124583	CANT1	OMIM:617719
HP:0011314	Abnormal long bone morphology	9382	COG1	OMIM:611209
HP:0011314	Abnormal long bone morphology	5286	PIK3C2A	ORPHA:557003
HP:0011314	Abnormal long bone morphology	9949	AMMECR1	OMIM:300990
HP:0011314	Abnormal long bone morphology	65250	CPLANE1	OMIM:277170
HP:0011314	Abnormal long bone morphology	815	CAMK2A	OMIM:617798
HP:0011314	Abnormal long bone morphology	727857	BHLHA9	ORPHA:3329
HP:0011314	Abnormal long bone morphology	6913	TBX15	ORPHA:93333
HP:0011314	Abnormal long bone morphology	22827	PUF60	ORPHA:508488
HP:0011314	Abnormal long bone morphology	202018	TAPT1	OMIM:616897
HP:0011314	Abnormal long bone morphology	8792	TNFRSF11A	OMIM:602080
HP:0011314	Abnormal long bone morphology	871	SERPINH1	OMIM:613848
HP:0011314	Abnormal long bone morphology	286053	NSMCE2	OMIM:617253
HP:0011314	Abnormal long bone morphology	79879	CCDC134	OMIM:619795
HP:0011314	Abnormal long bone morphology	4593	MUSK	OMIM:208150
HP:0011314	Abnormal long bone morphology	51604	PIGT	ORPHA:369837
HP:0011314	Abnormal long bone morphology	5530	PPP3CA	OMIM:618265
HP:0011314	Abnormal long bone morphology	2972	BRF1	OMIM:616202
HP:0011314	Abnormal long bone morphology	2972	BRF1	ORPHA:444072
HP:0011314	Abnormal long bone morphology	2733	GLE1	ORPHA:1486
HP:0011314	Abnormal long bone morphology	9820	CUL7	ORPHA:2616
HP:0011314	Abnormal long bone morphology	9820	CUL7	OMIM:273750
HP:0011314	Abnormal long bone morphology	23363	OBSL1	ORPHA:2616
HP:0011314	Abnormal long bone morphology	23363	OBSL1	OMIM:612921
HP:0011314	Abnormal long bone morphology	83987	CCDC8	ORPHA:2616
HP:0011314	Abnormal long bone morphology	83987	CCDC8	OMIM:614205
HP:0011314	Abnormal long bone morphology	4784	NFIX	ORPHA:420179
HP:0011314	Abnormal long bone morphology	4784	NFIX	OMIM:602535
HP:0011314	Abnormal long bone morphology	4784	NFIX	ORPHA:561
HP:0011314	Abnormal long bone morphology	1277	COL1A1	OMIM:259420
HP:0011314	Abnormal long bone morphology	1278	COL1A2	OMIM:259420
HP:0011314	Abnormal long bone morphology	11128	POLR3A	OMIM:264090
HP:0011314	Abnormal long bone morphology	9935	MAFB	ORPHA:2774
HP:0011314	Abnormal long bone morphology	128869	PIGU	OMIM:618590
HP:0011314	Abnormal long bone morphology	2222	FDFT1	OMIM:618156
HP:0011314	Abnormal long bone morphology	91179	SCARF2	OMIM:600920
HP:0011314	Abnormal long bone morphology	5159	PDGFRB	OMIM:601812
HP:0011314	Abnormal long bone morphology	83737	ITCH	OMIM:613385
HP:0011314	Abnormal long bone morphology	3035	HARS1	ORPHA:488333
HP:0011314	Abnormal long bone morphology	2067	ERCC1	OMIM:610758
HP:0011314	Abnormal long bone morphology	64175	P3H1	OMIM:610915
HP:0011314	Abnormal long bone morphology	126792	B3GALT6	OMIM:271640
HP:0011314	Abnormal long bone morphology	5295	PIK3R1	OMIM:269880
HP:0011314	Abnormal long bone morphology	6905	TBCE	OMIM:244460
HP:0011314	Abnormal long bone morphology	6651	SON	ORPHA:500150
HP:0011314	Abnormal long bone morphology	4998	ORC1	OMIM:224690
HP:0011314	Abnormal long bone morphology	4998	ORC1	ORPHA:2554
HP:0011314	Abnormal long bone morphology	51574	LARP7	ORPHA:319671
HP:0011314	Abnormal long bone morphology	3759	KCNJ2	OMIM:170390
HP:0011314	Abnormal long bone morphology	81620	CDT1	ORPHA:2554
HP:0011314	Abnormal long bone morphology	81620	CDT1	OMIM:613804
HP:0011314	Abnormal long bone morphology	5000	ORC4	ORPHA:2554
HP:0011314	Abnormal long bone morphology	5000	ORC4	OMIM:613800
HP:0011314	Abnormal long bone morphology	23594	ORC6	ORPHA:2554
HP:0011314	Abnormal long bone morphology	23594	ORC6	OMIM:613803
HP:0011314	Abnormal long bone morphology	8318	CDC45	ORPHA:2554
HP:0011314	Abnormal long bone morphology	990	CDC6	ORPHA:2554
HP:0011314	Abnormal long bone morphology	990	CDC6	OMIM:613805
HP:0011314	Abnormal long bone morphology	51053	GMNN	ORPHA:2554
HP:0011314	Abnormal long bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0011314	Abnormal long bone morphology	5116	PCNT	OMIM:210720
HP:0011314	Abnormal long bone morphology	4247	MGAT2	OMIM:212066
HP:0011314	Abnormal long bone morphology	63901	FAM111A	OMIM:602361
HP:0011314	Abnormal long bone morphology	2131	EXT1	OMIM:133700
HP:0011314	Abnormal long bone morphology	2132	EXT2	OMIM:133701
HP:0011314	Abnormal long bone morphology	59341	TRPV4	OMIM:156530
HP:0011314	Abnormal long bone morphology	3835	KIF22	ORPHA:93360
HP:0011314	Abnormal long bone morphology	3835	KIF22	OMIM:603546
HP:0011314	Abnormal long bone morphology	91252	SLC39A13	ORPHA:157965
HP:0011314	Abnormal long bone morphology	91252	SLC39A13	OMIM:612350
HP:0011314	Abnormal long bone morphology	84572	GNPTG	OMIM:252605
HP:0011314	Abnormal long bone morphology	8838	CCN6	ORPHA:1159
HP:0011314	Abnormal long bone morphology	176	ACAN	OMIM:608361
HP:0011314	Abnormal long bone morphology	9496	TBX4	OMIM:147891
HP:0011314	Abnormal long bone morphology	755	CFAP410	OMIM:602271
HP:0011314	Abnormal long bone morphology	83550	GPR101	ORPHA:963
HP:0011314	Abnormal long bone morphology	9049	AIP	ORPHA:963
HP:0011314	Abnormal long bone morphology	340419	RSPO2	OMIM:618022
HP:0011314	Abnormal long bone morphology	26175	LYSET	OMIM:619345
HP:0011314	Abnormal long bone morphology	2778	GNAS	ORPHA:94089
HP:0011314	Abnormal long bone morphology	8675	STX16	ORPHA:94089
HP:0011314	Abnormal long bone morphology	22858	CILK1	OMIM:612651
HP:0011314	Abnormal long bone morphology	7476	WNT7A	ORPHA:2879
HP:0011314	Abnormal long bone morphology	7476	WNT7A	OMIM:276820
HP:0011314	Abnormal long bone morphology	633	BGN	OMIM:300106
HP:0011314	Abnormal long bone morphology	1836	SLC26A2	ORPHA:93307
HP:0011314	Abnormal long bone morphology	6638	SNRPN	ORPHA:177910
HP:0011314	Abnormal long bone morphology	4692	NDN	ORPHA:177910
HP:0011314	Abnormal long bone morphology	54551	MAGEL2	ORPHA:177910
HP:0011314	Abnormal long bone morphology	9401	RECQL4	ORPHA:221016
HP:0011314	Abnormal long bone morphology	4318	MMP9	ORPHA:1040
HP:0011314	Abnormal long bone morphology	4322	MMP13	ORPHA:1040
HP:0011314	Abnormal long bone morphology	64682	ANAPC1	ORPHA:221008
HP:0011314	Abnormal long bone morphology	1300	COL10A1	ORPHA:174
HP:0011314	Abnormal long bone morphology	579	NKX3-2	OMIM:613330
HP:0011314	Abnormal long bone morphology	3094	HINT1	ORPHA:324442
HP:0011314	Abnormal long bone morphology	9759	HDAC4	OMIM:600430
HP:0011314	Abnormal long bone morphology	9578	CDC42BPB	OMIM:619841
HP:0011314	Abnormal long bone morphology	5191	PEX7	OMIM:266500
HP:0011314	Abnormal long bone morphology	5264	PHYH	OMIM:266500
HP:0011314	Abnormal long bone morphology	94005	PIGS	OMIM:618143
HP:0011314	Abnormal long bone morphology	341208	HEPHL1	OMIM:261990
HP:0011314	Abnormal long bone morphology	89970	RSPRY1	ORPHA:457395
HP:0011314	Abnormal long bone morphology	89970	RSPRY1	OMIM:616723
HP:0011314	Abnormal long bone morphology	54585	LZTFL1	OMIM:615994
HP:0011314	Abnormal long bone morphology	55628	ZNF407	OMIM:619557
HP:0011314	Abnormal long bone morphology	2146	EZH2	OMIM:277590
HP:0011314	Abnormal long bone morphology	79633	FAT4	OMIM:615546
HP:0011314	Abnormal long bone morphology	8642	DCHS1	OMIM:601390
HP:0011314	Abnormal long bone morphology	54496	PRMT7	ORPHA:464288
HP:0011314	Abnormal long bone morphology	6925	TCF4	OMIM:610954
HP:0011314	Abnormal long bone morphology	6628	SNRPB	OMIM:117650
HP:0011314	Abnormal long bone morphology	415	ARSL	ORPHA:79345
HP:0011314	Abnormal long bone morphology	23288	IQCE	OMIM:617642
HP:0011314	Abnormal long bone morphology	54	ACP5	OMIM:607944
HP:0011314	Abnormal long bone morphology	1062	CENPE	OMIM:616051
HP:0011314	Abnormal long bone morphology	3187	HNRNPH1	OMIM:620083
HP:0011314	Abnormal long bone morphology	9896	FIG4	ORPHA:3472
HP:0011314	Abnormal long bone morphology	55697	VAC14	ORPHA:3472
HP:0011314	Abnormal long bone morphology	9791	PTDSS1	OMIM:151050
HP:0011314	Abnormal long bone morphology	4038	LRP4	ORPHA:3152
HP:0011314	Abnormal long bone morphology	3423	IDS	ORPHA:217085
HP:0011314	Abnormal long bone morphology	3423	IDS	ORPHA:217093
HP:0011314	Abnormal long bone morphology	23169	SLC35D1	ORPHA:3144
HP:0011314	Abnormal long bone morphology	6916	TBXAS1	ORPHA:1802
HP:0011314	Abnormal long bone morphology	7291	TWIST1	ORPHA:794
HP:0011314	Abnormal long bone morphology	3207	HOXA11	OMIM:605432
HP:0011314	Abnormal long bone morphology	22856	CHSY1	ORPHA:363417
HP:0011314	Abnormal long bone morphology	1594	CYP27B1	ORPHA:289157
HP:0011314	Abnormal long bone morphology	120227	CYP2R1	ORPHA:289157
HP:0011314	Abnormal long bone morphology	203859	ANO5	OMIM:166260
HP:0011314	Abnormal long bone morphology	4507	MTAP	OMIM:112250
HP:0011314	Abnormal long bone morphology	79659	DYNC2H1	OMIM:613091
HP:0011314	Abnormal long bone morphology	5130	PCYT1A	ORPHA:85167
HP:0011314	Abnormal long bone morphology	55503	TRPV6	OMIM:618188
HP:0011314	Abnormal long bone morphology	1758	DMP1	ORPHA:289176
HP:0011314	Abnormal long bone morphology	5167	ENPP1	ORPHA:289176
HP:0011314	Abnormal long bone morphology	2697	GJA1	OMIM:257850
HP:0011314	Abnormal long bone morphology	1298	COL9A2	OMIM:600204
HP:0011314	Abnormal long bone morphology	8200	GDF5	OMIM:200700
HP:0011314	Abnormal long bone morphology	8200	GDF5	OMIM:201250
HP:0011314	Abnormal long bone morphology	8200	GDF5	ORPHA:2098
HP:0011314	Abnormal long bone morphology	64327	LMBR1	OMIM:200500
HP:0011314	Abnormal long bone morphology	64327	LMBR1	OMIM:188740
HP:0011314	Abnormal long bone morphology	64327	LMBR1	ORPHA:93405
HP:0011314	Abnormal long bone morphology	153241	CEP120	OMIM:616300
HP:0011314	Abnormal long bone morphology	10082	GPC6	OMIM:258315
HP:0011314	Abnormal long bone morphology	7355	SLC35A2	ORPHA:356961
HP:0011314	Abnormal long bone morphology	658	BMPR1B	ORPHA:2098
HP:0011314	Abnormal long bone morphology	6473	SHOX	OMIM:127300
HP:0011314	Abnormal long bone morphology	6473	SHOX	ORPHA:240
HP:0011314	Abnormal long bone morphology	6473	SHOX	OMIM:249700
HP:0011314	Abnormal long bone morphology	64093	SMOC1	ORPHA:1106
HP:0011314	Abnormal long bone morphology	79087	ALG12	OMIM:607143
HP:0011314	Abnormal long bone morphology	2317	FLNB	ORPHA:56305
HP:0011314	Abnormal long bone morphology	3549	IHH	OMIM:607778
HP:0011314	Abnormal long bone morphology	3977	LIFR	OMIM:601559
HP:0011314	Abnormal long bone morphology	9775	EIF4A3	OMIM:268305
HP:0011314	Abnormal long bone morphology	6469	SHH	ORPHA:93405
HP:0011314	Abnormal long bone morphology	27152	INTU	OMIM:617925
HP:0011314	Abnormal long bone morphology	3911	LAMA5	OMIM:620076
HP:0011314	Abnormal long bone morphology	57688	ZSWIM6	OMIM:603671
HP:0011314	Abnormal long bone morphology	29980	DONSON	OMIM:251230
HP:0011314	Abnormal long bone morphology	26123	TCTN3	OMIM:258860
HP:0011314	Abnormal long bone morphology	2737	GLI3	ORPHA:93322
HP:0011314	Abnormal long bone morphology	538	ATP7A	ORPHA:198
HP:0011314	Abnormal long bone morphology	55898	UNC45A	OMIM:619377
HP:0011314	Abnormal long bone morphology	26277	TINF2	OMIM:613990
HP:0011314	Abnormal long bone morphology	91754	NEK9	OMIM:614262
HP:0011314	Abnormal long bone morphology	9652	SKIC3	OMIM:222470
HP:0011314	Abnormal long bone morphology	1857	DVL3	ORPHA:3107
HP:0011314	Abnormal long bone morphology	7474	WNT5A	ORPHA:3107
HP:0011314	Abnormal long bone morphology	1855	DVL1	ORPHA:3107
HP:0011314	Abnormal long bone morphology	2535	FZD2	ORPHA:3107
HP:0011314	Abnormal long bone morphology	1387	CREBBP	ORPHA:353277
HP:0011314	Abnormal long bone morphology	1387	CREBBP	ORPHA:353281
HP:0011314	Abnormal long bone morphology	2335	FN1	ORPHA:93315
HP:0011314	Abnormal long bone morphology	1280	COL2A1	ORPHA:93315
HP:0011314	Abnormal long bone morphology	1280	COL2A1	OMIM:608805
HP:0011314	Abnormal long bone morphology	1280	COL2A1	OMIM:150600
HP:0011314	Abnormal long bone morphology	81031	SLC2A10	ORPHA:3342
HP:0011314	Abnormal long bone morphology	9719	ADAMTSL2	ORPHA:1901
HP:0011314	Abnormal long bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0011314	Abnormal long bone morphology	4796	TONSL	ORPHA:93357
HP:0011314	Abnormal long bone morphology	4148	MATN3	ORPHA:93311
HP:0011314	Abnormal long bone morphology	7227	TRPS1	ORPHA:502
HP:0011314	Abnormal long bone morphology	7227	TRPS1	OMIM:190350
HP:0011314	Abnormal long bone morphology	7227	TRPS1	OMIM:190351
HP:0011314	Abnormal long bone morphology	7227	TRPS1	ORPHA:77258
HP:0011314	Abnormal long bone morphology	55325	UFSP2	OMIM:142669
HP:0011314	Abnormal long bone morphology	11277	TREX1	ORPHA:247691
HP:0011314	Abnormal long bone morphology	1311	COMP	OMIM:132400
HP:0011314	Abnormal long bone morphology	1311	COMP	ORPHA:93308
HP:0011314	Abnormal long bone morphology	2033	EP300	ORPHA:353284
HP:0011314	Abnormal long bone morphology	10847	SRCAP	ORPHA:2044
HP:0011314	Abnormal long bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0011314	Abnormal long bone morphology	64374	SIL1	ORPHA:559
HP:0011314	Abnormal long bone morphology	51763	INPP5K	ORPHA:559
HP:0011314	Abnormal long bone morphology	10682	EBP	ORPHA:35173
HP:0011314	Abnormal long bone morphology	5573	PRKAR1A	OMIM:101800
HP:0011314	Abnormal long bone morphology	4750	NEK1	OMIM:263520
HP:0011314	Abnormal long bone morphology	9939	RBM8A	OMIM:274000
HP:0011314	Abnormal long bone morphology	4125	MAN2B1	ORPHA:309282
HP:0011314	Abnormal long bone morphology	7040	TGFB1	ORPHA:1328
HP:0011314	Abnormal long bone morphology	7040	TGFB1	OMIM:131300
HP:0011314	Abnormal long bone morphology	9361	LONP1	OMIM:600373
HP:0011314	Abnormal long bone morphology	10588	MTHFS	OMIM:618367
HP:0011314	Abnormal long bone morphology	9851	KIAA0753	OMIM:619479
HP:0011314	Abnormal long bone morphology	23483	TGDS	OMIM:616145
HP:0011314	Abnormal long bone morphology	55764	IFT122	OMIM:218330
HP:0011314	Abnormal long bone morphology	145258	GSC	OMIM:602471
HP:0011314	Abnormal long bone morphology	9241	NOG	OMIM:186500
HP:0011314	Abnormal long bone morphology	157570	ESCO2	OMIM:268300
HP:0011314	Abnormal long bone morphology	4982	TNFRSF11B	OMIM:239000
HP:0011314	Abnormal long bone morphology	6910	TBX5	OMIM:142900
HP:0011314	Abnormal long bone morphology	114803	MYSM1	ORPHA:508542
HP:0011314	Abnormal long bone morphology	8540	AGPS	OMIM:600121
HP:0011314	Abnormal long bone morphology	6926	TBX3	OMIM:181450
HP:0011314	Abnormal long bone morphology	2187	FANCB	OMIM:314390
HP:0011314	Abnormal long bone morphology	7547	ZIC3	OMIM:314390
HP:0011314	Abnormal long bone morphology	8802	SUCLG1	ORPHA:17
HP:0011314	Abnormal long bone morphology	5830	PEX5	OMIM:616716
HP:0011314	Abnormal long bone morphology	4233	MET	OMIM:607278
HP:0011314	Abnormal long bone morphology	4617	MYF5	OMIM:618155
HP:0011314	Abnormal long bone morphology	10195	ALG3	ORPHA:79321
HP:0011314	Abnormal long bone morphology	5251	PHEX	ORPHA:89936
HP:0011314	Abnormal long bone morphology	64840	PORCN	ORPHA:2092
HP:0011314	Abnormal long bone morphology	23233	EXOC6B	ORPHA:93359
HP:0011314	Abnormal long bone morphology	5781	PTPN11	ORPHA:2499
HP:0011314	Abnormal long bone morphology	7305	TYROBP	ORPHA:2770
HP:0011314	Abnormal long bone morphology	54209	TREM2	ORPHA:2770
HP:0011314	Abnormal long bone morphology	3425	IDUA	ORPHA:93473
HP:0011314	Abnormal long bone morphology	10312	TCIRG1	ORPHA:667
HP:0011314	Abnormal long bone morphology	1186	CLCN7	ORPHA:667
HP:0011314	Abnormal long bone morphology	1186	CLCN7	ORPHA:53
HP:0011314	Abnormal long bone morphology	29887	SNX10	ORPHA:667
HP:0011314	Abnormal long bone morphology	8600	TNFSF11	ORPHA:667
HP:0011314	Abnormal long bone morphology	6595	SMARCA2	ORPHA:3051
HP:0011314	Abnormal long bone morphology	4952	OCRL	ORPHA:534
HP:0011314	Abnormal long bone morphology	11107	PRDM5	ORPHA:90354
HP:0011314	Abnormal long bone morphology	84627	ZNF469	ORPHA:90354
HP:0011314	Abnormal long bone morphology	6335	SCN9A	ORPHA:970
HP:0011314	Abnormal long bone morphology	65125	WNK1	ORPHA:970
HP:0011314	Abnormal long bone morphology	54463	RETREG1	ORPHA:970
HP:0011314	Abnormal long bone morphology	547	KIF1A	ORPHA:970
HP:0011314	Abnormal long bone morphology	6023	RMRP	ORPHA:175
HP:0011314	Abnormal long bone morphology	92344	GORAB	ORPHA:2078
HP:0011314	Abnormal long bone morphology	5831	PYCR1	ORPHA:2078
HP:0011314	Abnormal long bone morphology	2200	FBN1	ORPHA:969
HP:0011314	Abnormal long bone morphology	4054	LTBP3	ORPHA:969
HP:0011314	Abnormal long bone morphology	23592	LEMD3	ORPHA:1306
HP:0011314	Abnormal long bone morphology	3248	HPGD	ORPHA:2796
HP:0011314	Abnormal long bone morphology	3636	INPPL1	ORPHA:2746
HP:0011314	Abnormal long bone morphology	860	RUNX2	ORPHA:1452
HP:0011314	Abnormal long bone morphology	84695	LOXL3	ORPHA:250984
HP:0011314	Abnormal long bone morphology	9487	PIGL	ORPHA:3474
HP:0011314	Abnormal long bone morphology	4089	SMAD4	ORPHA:2588
HP:0011314	Abnormal long bone morphology	10013	HDAC6	OMIM:300863
HP:0011314	Abnormal long bone morphology	6137	RPL13	OMIM:618728
HP:0011314	Abnormal long bone morphology	79158	GNPTAB	OMIM:252500
HP:0011314	Abnormal long bone morphology	10491	CRTAP	OMIM:610682
HP:0011314	Abnormal long bone morphology	9871	SEC24D	ORPHA:2050
HP:0011314	Abnormal long bone morphology	5034	P4HB	ORPHA:2050
HP:0011314	Abnormal long bone morphology	57728	WDR19	OMIM:614376
HP:0011314	Abnormal long bone morphology	7030	TFE3	OMIM:301066
HP:0011314	Abnormal long bone morphology	1302	COL11A2	ORPHA:1427
HP:0011314	Abnormal long bone morphology	219844	HYLS1	OMIM:236680
HP:0011314	Abnormal long bone morphology	6885	MAP3K7	ORPHA:1826
HP:0011314	Abnormal long bone morphology	64135	IFIH1	OMIM:182250
HP:0011314	Abnormal long bone morphology	51025	PAM16	OMIM:613320
HP:0011314	Abnormal long bone morphology	649	BMP1	OMIM:614856
HP:0011314	Abnormal long bone morphology	6662	SOX9	OMIM:114290
HP:0011314	Abnormal long bone morphology	526	ATP6V1B2	ORPHA:3473
HP:0011314	Abnormal long bone morphology	3782	KCNN3	ORPHA:3473
HP:0011314	Abnormal long bone morphology	10269	ZMPSTE24	OMIM:275210
HP:0011314	Abnormal long bone morphology	4000	LMNA	OMIM:619793
HP:0011314	Abnormal long bone morphology	26040	SETBP1	OMIM:269150
HP:0011314	Abnormal long bone morphology	1297	COL9A1	OMIM:614135
HP:0011314	Abnormal long bone morphology	50964	SOST	OMIM:269500
HP:0011314	Abnormal long bone morphology	2261	FGFR3	OMIM:610474
HP:0011314	Abnormal long bone morphology	9131	AIFM1	OMIM:300232
HP:0011314	Abnormal long bone morphology	27125	AFF4	ORPHA:444077
HP:0011314	Abnormal long bone morphology	8241	RBM10	ORPHA:2886
HP:0011314	Abnormal long bone morphology	2316	FLNA	OMIM:305620
HP:0011314	Abnormal long bone morphology	545	ATR	OMIM:210600
HP:0011314	Abnormal long bone morphology	25839	COG4	OMIM:618150
HP:0011314	Abnormal long bone morphology	54808	DYM	OMIM:223800
HP:0011314	Abnormal long bone morphology	5979	RET	OMIM:162300
HP:0011314	Abnormal long bone morphology	51119	SBDS	OMIM:260400
HP:0011314	Abnormal long bone morphology	51119	SBDS	ORPHA:811
HP:0011314	Abnormal long bone morphology	134218	DNAJC21	OMIM:260400
HP:0011314	Abnormal long bone morphology	134218	DNAJC21	ORPHA:811
HP:0011314	Abnormal long bone morphology	6729	SRP54	OMIM:260400
HP:0011314	Abnormal long bone morphology	6729	SRP54	ORPHA:811
HP:0011314	Abnormal long bone morphology	79631	EFL1	ORPHA:811
HP:0011314	Abnormal long bone morphology	6578	SLCO2A1	OMIM:167100
HP:0011314	Abnormal long bone morphology	6678	SPARC	OMIM:616507
HP:0011314	Abnormal long bone morphology	3339	HSPG2	OMIM:255800
HP:0011314	Abnormal long bone morphology	613	BCR	ORPHA:261330
HP:0011314	Abnormal long bone morphology	1399	CRKL	ORPHA:261330
HP:0011314	Abnormal long bone morphology	5594	MAPK1	ORPHA:261330
HP:0011314	Abnormal long bone morphology	2201	FBN2	OMIM:121050
HP:0011314	Abnormal long bone morphology	51259	TMEM216	OMIM:603194
HP:0011314	Abnormal long bone morphology	51259	TMEM216	ORPHA:564
HP:0011314	Abnormal long bone morphology	56975	FAM20C	OMIM:259775
HP:0011314	Abnormal long bone morphology	55603	TENT5A	OMIM:617952
HP:0011314	Abnormal long bone morphology	84314	TMEM107	ORPHA:564
HP:0011314	Abnormal long bone morphology	79867	TCTN2	ORPHA:564
HP:0011314	Abnormal long bone morphology	80776	B9D2	ORPHA:564
HP:0011314	Abnormal long bone morphology	79600	TCTN1	ORPHA:564
HP:0011314	Abnormal long bone morphology	57096	RPGRIP1	ORPHA:564
HP:0011314	Abnormal long bone morphology	80184	CEP290	ORPHA:564
HP:0011314	Abnormal long bone morphology	80184	CEP290	OMIM:611134
HP:0011314	Abnormal long bone morphology	57545	CC2D2A	ORPHA:564
HP:0011314	Abnormal long bone morphology	79583	TMEM231	ORPHA:564
HP:0011314	Abnormal long bone morphology	79770	TXNDC15	ORPHA:564
HP:0011314	Abnormal long bone morphology	79770	TXNDC15	OMIM:619879
HP:0011314	Abnormal long bone morphology	27077	B9D1	ORPHA:564
HP:0011314	Abnormal long bone morphology	54903	MKS1	ORPHA:564
HP:0011314	Abnormal long bone morphology	54903	MKS1	OMIM:249000
HP:0011314	Abnormal long bone morphology	65062	TMEM237	ORPHA:564
HP:0011314	Abnormal long bone morphology	5352	PLOD2	ORPHA:2771
HP:0011314	Abnormal long bone morphology	60681	FKBP10	ORPHA:2771
HP:0011314	Abnormal long bone morphology	6514	SLC2A2	ORPHA:2088
HP:0011314	Abnormal long bone morphology	51360	MBTPS2	OMIM:301014
HP:0011314	Abnormal long bone morphology	11014	KDELR2	OMIM:619131
HP:0011314	Abnormal long bone morphology	121340	SP7	OMIM:613849
HP:0011314	Abnormal long bone morphology	5921	RASA1	ORPHA:90307
HP:0011314	Abnormal long bone morphology	7157	TP53	ORPHA:668
HP:0011314	Abnormal long bone morphology	5925	RB1	ORPHA:668
HP:0011314	Abnormal long bone morphology	11200	CHEK2	ORPHA:668
HP:0011314	Abnormal long bone morphology	4041	LRP5	OMIM:144750
HP:0011314	Abnormal long bone morphology	79848	CSPP1	ORPHA:397715
HP:0011314	Abnormal long bone morphology	9786	KIAA0586	ORPHA:397715
HP:0011314	Abnormal long bone morphology	5626	PROP1	ORPHA:226307
HP:0011314	Abnormal long bone morphology	89884	LHX4	ORPHA:226307
HP:0011314	Abnormal long bone morphology	8022	LHX3	ORPHA:226307
HP:0011314	Abnormal long bone morphology	5449	POU1F1	ORPHA:226307
HP:0011314	Abnormal long bone morphology	8820	HESX1	ORPHA:226307
HP:0011314	Abnormal long bone morphology	405753	DUOXA2	ORPHA:95716
HP:0011314	Abnormal long bone morphology	6528	SLC5A5	ORPHA:95716
HP:0011314	Abnormal long bone morphology	7038	TG	ORPHA:95716
HP:0011314	Abnormal long bone morphology	7173	TPO	ORPHA:95716
HP:0011314	Abnormal long bone morphology	389434	IYD	ORPHA:95716
HP:0011314	Abnormal long bone morphology	50506	DUOX2	ORPHA:95716
HP:0011314	Abnormal long bone morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0011314	Abnormal long bone morphology	7253	TSHR	ORPHA:90673
HP:0011314	Abnormal long bone morphology	7252	TSHB	ORPHA:90674
HP:0011314	Abnormal long bone morphology	8443	GNPAT	OMIM:222765
HP:0011314	Abnormal long bone morphology	53834	FGFRL1	OMIM:194190
HP:0011314	Abnormal long bone morphology	1487	CTBP1	OMIM:194190
HP:0011314	Abnormal long bone morphology	3954	LETM1	OMIM:194190
HP:0011314	Abnormal long bone morphology	7468	NSD2	OMIM:194190
HP:0011314	Abnormal long bone morphology	10815	CPLX1	OMIM:194190
HP:0011314	Abnormal long bone morphology	7700	ZNF141	OMIM:615226
HP:0011314	Abnormal long bone morphology	3756	KCNH1	OMIM:611816
HP:0011314	Abnormal long bone morphology	4763	NF1	OMIM:162200
HP:0011314	Abnormal long bone morphology	81794	ADAMTS10	OMIM:277600
HP:0011314	Abnormal long bone morphology	10262	SF3B4	ORPHA:245
HP:0011314	Abnormal long bone morphology	55209	SETD5	ORPHA:404440
HP:0011314	Abnormal long bone morphology	55209	SETD5	OMIM:615761
HP:0011314	Abnormal long bone morphology	57459	GATAD2B	ORPHA:363686
HP:0011314	Abnormal long bone morphology	79971	WLS	OMIM:619648
HP:0011314	Abnormal long bone morphology	6792	CDKL5	ORPHA:505652
HP:0011314	Abnormal long bone morphology	26229	B3GAT3	OMIM:245600
HP:0011314	Abnormal long bone morphology	23476	BRD4	ORPHA:199
HP:0011314	Abnormal long bone morphology	9126	SMC3	ORPHA:199
HP:0011314	Abnormal long bone morphology	8243	SMC1A	ORPHA:199
HP:0011314	Abnormal long bone morphology	25836	NIPBL	ORPHA:199
HP:0011314	Abnormal long bone morphology	55869	HDAC8	ORPHA:199
HP:0011314	Abnormal long bone morphology	5885	RAD21	ORPHA:199
HP:0011314	Abnormal long bone morphology	90	ACVR1	OMIM:135100
HP:0011314	Abnormal long bone morphology	3209	HOXA13	OMIM:140000
HP:0011314	Abnormal long bone morphology	3209	HOXA13	ORPHA:2438
HP:0011314	Abnormal long bone morphology	55215	FANCI	OMIM:609053
HP:0011314	Abnormal long bone morphology	6736	SRY	ORPHA:1772
HP:0011314	Abnormal long bone morphology	26224	FBXL3	OMIM:606220
HP:0011314	Abnormal long bone morphology	5727	PTCH1	OMIM:109400
HP:0011314	Abnormal long bone morphology	55612	FERMT1	ORPHA:2908
HP:0011314	Abnormal long bone morphology	374969	SVBP	OMIM:618569
HP:0011314	Abnormal long bone morphology	8823	FGF16	OMIM:309630
HP:0011314	Abnormal long bone morphology	55733	HHAT	OMIM:600092
HP:0011314	Abnormal long bone morphology	55733	HHAT	ORPHA:1422
HP:0011314	Abnormal long bone morphology	5447	POR	ORPHA:95699
HP:0011314	Abnormal long bone morphology	149775	GNAS-AS1	OMIM:603233
HP:0011314	Abnormal long bone morphology	117581	TWIST2	OMIM:200110
HP:0011314	Abnormal long bone morphology	5744	PTHLH	ORPHA:93387
HP:0011314	Abnormal long bone morphology	5744	PTHLH	OMIM:613382
HP:0011314	Abnormal long bone morphology	10225	CD96	OMIM:211750
HP:0011314	Abnormal long bone morphology	6197	RPS6KA3	OMIM:303600
HP:0011314	Abnormal long bone morphology	6197	RPS6KA3	ORPHA:192
HP:0011314	Abnormal long bone morphology	64131	XYLT1	OMIM:615777
HP:0011314	Abnormal long bone morphology	157680	VPS13B	OMIM:216550
HP:0011314	Abnormal long bone morphology	5139	PDE3A	OMIM:112410
HP:0011314	Abnormal long bone morphology	5139	PDE3A	ORPHA:1276
HP:0011314	Abnormal long bone morphology	4882	NPR2	OMIM:602875
HP:0011314	Abnormal long bone morphology	145173	B3GLCT	OMIM:261540
HP:0011314	Abnormal long bone morphology	5593	PRKG2	OMIM:619636
HP:0011314	Abnormal long bone morphology	10283	CWC27	OMIM:250410
HP:0011314	Abnormal long bone morphology	10283	CWC27	ORPHA:166035
HP:0011314	Abnormal long bone morphology	4810	NHS	ORPHA:627
HP:0011314	Abnormal long bone morphology	9321	TRIP11	OMIM:184260
HP:0011314	Abnormal long bone morphology	54928	BPNT2	OMIM:614078
HP:0011314	Abnormal long bone morphology	51098	IFT52	OMIM:617102
HP:0011314	Abnormal long bone morphology	55252	ASXL2	OMIM:617190
HP:0011314	Abnormal long bone morphology	1788	DNMT3A	OMIM:618724
HP:0011314	Abnormal long bone morphology	54101	RIPK4	OMIM:263650
HP:0011314	Abnormal long bone morphology	83452	RAB33B	OMIM:615222
HP:0011314	Abnormal long bone morphology	57560	IFT80	OMIM:611263
HP:0011314	Abnormal long bone morphology	25871	NEPRO	OMIM:618853
HP:0011314	Abnormal long bone morphology	90417	KNSTRN	OMIM:613328
HP:0011314	Abnormal long bone morphology	5293	PIK3CD	OMIM:613328
HP:0011314	Abnormal long bone morphology	25886	POC1A	OMIM:614813
HP:0011314	Abnormal long bone morphology	10664	CTCF	ORPHA:363611
HP:0011314	Abnormal long bone morphology	1947	EFNB1	ORPHA:1520
HP:0011314	Abnormal long bone morphology	64359	NXN	ORPHA:1507
HP:0011314	Abnormal long bone morphology	4920	ROR2	ORPHA:1507
HP:0011314	Abnormal long bone morphology	2626	GATA4	ORPHA:251071
HP:0011314	Abnormal long bone morphology	285362	SUMF1	ORPHA:585
HP:0011314	Abnormal long bone morphology	650	BMP2	ORPHA:261295
HP:0011314	Abnormal long bone morphology	23314	SATB2	ORPHA:251019
HP:0011314	Abnormal long bone morphology	57167	SALL4	ORPHA:959
HP:0011314	Abnormal long bone morphology	6299	SALL1	ORPHA:857
HP:0011314	Abnormal long bone morphology	51339	DACT1	ORPHA:857
HP:0011314	Abnormal long bone morphology	3764	KCNJ8	ORPHA:1517
HP:0011314	Abnormal long bone morphology	10060	ABCC9	ORPHA:1517
HP:0011314	Abnormal long bone morphology	2239	GPC4	ORPHA:2662
HP:0011314	Abnormal long bone morphology	2313	FLI1	ORPHA:2308
HP:0011314	Abnormal long bone morphology	3239	HOXD13	OMIM:113200
HP:0011314	Abnormal long bone morphology	2260	FGFR1	OMIM:123150
HP:0011314	Abnormal long bone morphology	2263	FGFR2	OMIM:123150
HP:0011314	Abnormal long bone morphology	3736	KCNA1	ORPHA:1934
HP:0011314	Abnormal long bone morphology	9091	PIGQ	ORPHA:1934
HP:0011314	Abnormal long bone morphology	2775	GNAO1	ORPHA:1934
HP:0011314	Abnormal long bone morphology	81603	TRIM8	ORPHA:1934
HP:0011314	Abnormal long bone morphology	2902	GRIN1	ORPHA:1934
HP:0011314	Abnormal long bone morphology	79751	SLC25A22	ORPHA:1934
HP:0011314	Abnormal long bone morphology	150094	SIK1	ORPHA:1934
HP:0011314	Abnormal long bone morphology	8573	CASK	ORPHA:1934
HP:0011314	Abnormal long bone morphology	23312	DMXL2	ORPHA:1934
HP:0011314	Abnormal long bone morphology	2917	GRM7	ORPHA:1934
HP:0011314	Abnormal long bone morphology	170302	ARX	ORPHA:1934
HP:0011314	Abnormal long bone morphology	11284	PNKP	ORPHA:1934
HP:0011314	Abnormal long bone morphology	6326	SCN2A	ORPHA:1934
HP:0011314	Abnormal long bone morphology	51227	PIGP	ORPHA:1934
HP:0011314	Abnormal long bone morphology	6324	SCN1B	ORPHA:1934
HP:0011314	Abnormal long bone morphology	4761	NEUROD2	ORPHA:1934
HP:0011314	Abnormal long bone morphology	81857	MED25	ORPHA:464738
HP:0011314	Abnormal long bone morphology	56992	KIF15	ORPHA:261323
HP:0011314	Abnormal long bone morphology	375056	MIA3	OMIM:619269
HP:0011314	Abnormal long bone morphology	2074	ERCC6	OMIM:133540
HP:0011314	Abnormal long bone morphology	1161	ERCC8	OMIM:216400
HP:0011314	Abnormal long bone morphology	28957	MRPS28	OMIM:618958
HP:0011314	Abnormal long bone morphology	4883	NPR3	OMIM:619543
HP:0011314	Abnormal long bone morphology	51715	RAB23	OMIM:201000
HP:0011314	Abnormal long bone morphology	57003	CCDC47	OMIM:618268
HP:0011314	Abnormal long bone morphology	60561	RINT1	OMIM:618641
HP:0011314	Abnormal long bone morphology	5932	RBBP8	ORPHA:808
HP:0011314	Abnormal long bone morphology	79902	NUP85	ORPHA:808
HP:0011314	Abnormal long bone morphology	84126	ATRIP	ORPHA:808
HP:0011314	Abnormal long bone morphology	55835	CENPJ	ORPHA:808
HP:0011314	Abnormal long bone morphology	10293	TRAIP	ORPHA:808
HP:0011314	Abnormal long bone morphology	22995	CEP152	ORPHA:808
HP:0011314	Abnormal long bone morphology	10733	PLK4	ORPHA:808
HP:0011314	Abnormal long bone morphology	57178	ZMIZ1	OMIM:618659
HP:0011314	Abnormal long bone morphology	26146	TRAF3IP1	ORPHA:3156
HP:0011314	Abnormal long bone morphology	9657	IQCB1	ORPHA:3156
HP:0011314	Abnormal long bone morphology	10806	SDCCAG8	ORPHA:3156
HP:0011314	Abnormal long bone morphology	27130	INVS	ORPHA:3156
HP:0011314	Abnormal long bone morphology	4867	NPHP1	ORPHA:3156
HP:0011314	Abnormal long bone morphology	261734	NPHP4	ORPHA:3156
HP:0011314	Abnormal long bone morphology	27031	NPHP3	ORPHA:3156
HP:0011314	Abnormal long bone morphology	22897	CEP164	ORPHA:3156
HP:0011314	Abnormal long bone morphology	150468	CKAP2L	ORPHA:3255
HP:0011314	Abnormal long bone morphology	64802	NMNAT1	OMIM:619260
HP:0011314	Abnormal long bone morphology	1299	COL9A3	ORPHA:166002
HP:0011314	Abnormal long bone morphology	5144	PDE4D	ORPHA:950
HP:0011314	Abnormal long bone morphology	4921	DDR2	OMIM:271665
HP:0011314	Abnormal long bone morphology	57020	VPS35L	OMIM:619135
HP:0011314	Abnormal long bone morphology	4256	MGP	OMIM:245150
HP:0011314	Abnormal long bone morphology	2677	GGCX	OMIM:277450
HP:0011314	Abnormal long bone morphology	5190	PEX6	OMIM:614862
HP:0011314	Abnormal long bone morphology	5190	PEX6	ORPHA:912
HP:0011314	Abnormal long bone morphology	50814	NSDHL	OMIM:308050
HP:0011314	Abnormal long bone morphology	8504	PEX3	OMIM:614882
HP:0011314	Abnormal long bone morphology	8504	PEX3	ORPHA:912
HP:0011314	Abnormal long bone morphology	5828	PEX2	OMIM:614866
HP:0011314	Abnormal long bone morphology	5828	PEX2	ORPHA:912
HP:0011314	Abnormal long bone morphology	7068	THRB	OMIM:274300
HP:0011314	Abnormal long bone morphology	4758	NEU1	OMIM:256550
HP:0011314	Abnormal long bone morphology	2990	GUSB	ORPHA:584
HP:0011314	Abnormal long bone morphology	1717	DHCR7	OMIM:270400
HP:0011314	Abnormal long bone morphology	5189	PEX1	OMIM:601539
HP:0011314	Abnormal long bone morphology	5189	PEX1	ORPHA:912
HP:0011314	Abnormal long bone morphology	5189	PEX1	OMIM:214100
HP:0011314	Abnormal long bone morphology	5192	PEX10	OMIM:614870
HP:0011314	Abnormal long bone morphology	5192	PEX10	ORPHA:912
HP:0011314	Abnormal long bone morphology	55670	PEX26	OMIM:614872
HP:0011314	Abnormal long bone morphology	55670	PEX26	ORPHA:912
HP:0011314	Abnormal long bone morphology	9409	PEX16	OMIM:614876
HP:0011314	Abnormal long bone morphology	9409	PEX16	ORPHA:912
HP:0011314	Abnormal long bone morphology	5193	PEX12	OMIM:614859
HP:0011314	Abnormal long bone morphology	5193	PEX12	ORPHA:912
HP:0011314	Abnormal long bone morphology	5824	PEX19	ORPHA:912
HP:0011314	Abnormal long bone morphology	8799	PEX11B	ORPHA:912
HP:0011314	Abnormal long bone morphology	5194	PEX13	ORPHA:912
HP:0011314	Abnormal long bone morphology	5195	PEX14	ORPHA:912
HP:0011314	Abnormal long bone morphology	80232	WDR26	ORPHA:513456
HP:0011314	Abnormal long bone morphology	3516	RBPJ	OMIM:614814
HP:0011314	Abnormal long bone morphology	6477	SIAH1	OMIM:619314
HP:0011314	Abnormal long bone morphology	10059	DNM1L	OMIM:614388
HP:0011314	Abnormal long bone morphology	3020	H3-3A	OMIM:619720
HP:0011314	Abnormal long bone morphology	29998	BICRA	OMIM:619325
HP:0011314	Abnormal long bone morphology	8239	USP9X	OMIM:300919
HP:0011314	Abnormal long bone morphology	51132	RLIM	OMIM:300978
HP:0011314	Abnormal long bone morphology	92579	G6PC3	OMIM:612541
HP:0011314	Abnormal long bone morphology	29920	PYCR2	ORPHA:481152
HP:0011314	Abnormal long bone morphology	8726	EED	OMIM:617561
HP:0011314	Abnormal long bone morphology	8726	EED	ORPHA:3447
HP:0011314	Abnormal long bone morphology	5718	PSMD12	ORPHA:529962
HP:0011314	Abnormal long bone morphology	2186	BPTF	ORPHA:529962
HP:0011314	Abnormal long bone morphology	4212	MEIS2	OMIM:600987
HP:0011314	Abnormal long bone morphology	5728	PTEN	ORPHA:79076
HP:0011314	Abnormal long bone morphology	5728	PTEN	ORPHA:109
HP:0011314	Abnormal long bone morphology	657	BMPR1A	ORPHA:79076
HP:0011314	Abnormal long bone morphology	2254	FGF9	ORPHA:3237
HP:0011314	Abnormal long bone morphology	2254	FGF9	OMIM:612961
HP:0011314	Abnormal long bone morphology	3981	LIG4	ORPHA:235
HP:0011314	Abnormal long bone morphology	54888	NSUN2	ORPHA:235
HP:0011314	Abnormal long bone morphology	6608	SMO	OMIM:601707
HP:0011314	Abnormal long bone morphology	6608	SMO	ORPHA:1553
HP:0011314	Abnormal long bone morphology	23126	POGZ	OMIM:616364
HP:0011314	Abnormal long bone morphology	51633	OTUD6B	OMIM:617452
HP:0011314	Abnormal long bone morphology	51633	OTUD6B	ORPHA:505237
HP:0011314	Abnormal long bone morphology	79753	SNIP1	OMIM:614501
HP:0011314	Abnormal long bone morphology	9968	MED12	OMIM:309520
HP:0011314	Abnormal long bone morphology	9968	MED12	OMIM:305450
HP:0011314	Abnormal long bone morphology	80036	TRPM3	OMIM:620224
HP:0011314	Abnormal long bone morphology	79759	ZNF668	OMIM:620194
HP:0011314	Abnormal long bone morphology	10236	HNRNPR	OMIM:620073
HP:0011314	Abnormal long bone morphology	284252	KCTD1	OMIM:181270
HP:0011314	Abnormal long bone morphology	8481	OFD1	OMIM:300209
HP:0011314	Abnormal long bone morphology	56098	PCDHGC4	OMIM:619880
HP:0011314	Abnormal long bone morphology	2719	GPC3	ORPHA:373
HP:0011314	Abnormal long bone morphology	2719	GPC3	OMIM:312870
HP:0011314	Abnormal long bone morphology	4123	MAN2C1	OMIM:619775
HP:0011314	Abnormal long bone morphology	4488	MSX2	ORPHA:60015
HP:0011314	Abnormal long bone morphology	60529	ALX4	ORPHA:60015
HP:0011314	Abnormal long bone morphology	79989	IFT56	OMIM:619534
HP:0011314	Abnormal long bone morphology	23512	SUZ12	ORPHA:3447
HP:0011314	Abnormal long bone morphology	23404	EXOSC2	OMIM:617763
HP:0011314	Abnormal long bone morphology	5587	PRKD1	OMIM:617364
HP:0011314	Abnormal long bone morphology	2702	GJA5	OMIM:612474
HP:0011314	Abnormal long bone morphology	2703	GJA8	OMIM:612474
HP:0011314	Abnormal long bone morphology	55690	PACS1	ORPHA:329224
HP:0011314	Abnormal long bone morphology	22907	DHX30	OMIM:617804
HP:0011314	Abnormal long bone morphology	91147	TMEM67	ORPHA:140976
HP:0011314	Abnormal long bone morphology	3178	HNRNPA1	ORPHA:52430
HP:0011314	Abnormal long bone morphology	7415	VCP	ORPHA:52430
HP:0011314	Abnormal long bone morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0011314	Abnormal long bone morphology	1301	COL11A1	OMIM:154780
HP:0011314	Abnormal long bone morphology	388015	RTL1	ORPHA:96334
HP:0011314	Abnormal long bone morphology	8788	DLK1	ORPHA:96334
HP:0011314	Abnormal long bone morphology	55384	MEG3	ORPHA:96334
HP:0011314	Abnormal long bone morphology	284058	KANSL1	ORPHA:363965
HP:0011314	Abnormal long bone morphology	284058	KANSL1	ORPHA:363958
HP:0011314	Abnormal long bone morphology	3417	IDH1	ORPHA:99646
HP:0011314	Abnormal long bone morphology	25885	POLR1A	OMIM:616462
HP:0011314	Abnormal long bone morphology	3930	LBR	OMIM:215140
HP:0011314	Abnormal long bone morphology	100	ADA	OMIM:102700
HP:0011314	Abnormal long bone morphology	54187	NANS	OMIM:610442
HP:0011314	Abnormal long bone morphology	5426	POLE	OMIM:615139
HP:0011314	Abnormal long bone morphology	9742	IFT140	OMIM:266920
HP:0011314	Abnormal long bone morphology	5980	REV3L	ORPHA:570
HP:0011314	Abnormal long bone morphology	23129	PLXND1	ORPHA:570
HP:0011314	Abnormal long bone morphology	672	BRCA1	ORPHA:84
HP:0011314	Abnormal long bone morphology	10459	MAD2L2	ORPHA:84
HP:0011314	Abnormal long bone morphology	7516	XRCC2	ORPHA:84
HP:0011314	Abnormal long bone morphology	29089	UBE2T	ORPHA:84
HP:0011314	Abnormal long bone morphology	675	BRCA2	ORPHA:84
HP:0011314	Abnormal long bone morphology	55120	FANCL	ORPHA:84
HP:0011314	Abnormal long bone morphology	2177	FANCD2	ORPHA:84
HP:0011314	Abnormal long bone morphology	2175	FANCA	ORPHA:84
HP:0011314	Abnormal long bone morphology	2176	FANCC	ORPHA:84
HP:0011314	Abnormal long bone morphology	2178	FANCE	ORPHA:84
HP:0011314	Abnormal long bone morphology	2188	FANCF	ORPHA:84
HP:0011314	Abnormal long bone morphology	2189	FANCG	ORPHA:84
HP:0011314	Abnormal long bone morphology	5888	RAD51	ORPHA:84
HP:0011314	Abnormal long bone morphology	5889	RAD51C	ORPHA:84
HP:0011314	Abnormal long bone morphology	55159	RFWD3	ORPHA:84
HP:0011314	Abnormal long bone morphology	83990	BRIP1	ORPHA:84
HP:0011314	Abnormal long bone morphology	57697	FANCM	ORPHA:84
HP:0011314	Abnormal long bone morphology	79728	PALB2	ORPHA:84
HP:0011314	Abnormal long bone morphology	84464	SLX4	ORPHA:84
HP:0011314	Abnormal long bone morphology	2072	ERCC4	ORPHA:84
HP:0011314	Abnormal long bone morphology	9555	MACROH2A1	ORPHA:1275
HP:0011314	Abnormal long bone morphology	5307	PITX1	ORPHA:1275
HP:0011314	Abnormal long bone morphology	175	AGA	ORPHA:93
HP:0011314	Abnormal long bone morphology	23102	TBC1D2B	ORPHA:397973
HP:0011314	Abnormal long bone morphology	79639	TMEM53	OMIM:619727
HP:0011314	Abnormal long bone morphology	161742	SPRED1	ORPHA:137605
HP:0011314	Abnormal long bone morphology	10940	POP1	OMIM:617396
HP:0011314	Abnormal long bone morphology	5331	PLCB3	OMIM:618961
HP:0011314	Abnormal long bone morphology	55651	NHP2	ORPHA:1775
HP:0011314	Abnormal long bone morphology	79650	USB1	ORPHA:1775
HP:0011314	Abnormal long bone morphology	55135	WRAP53	ORPHA:1775
HP:0011314	Abnormal long bone morphology	51750	RTEL1	ORPHA:1775
HP:0011314	Abnormal long bone morphology	4869	NPM1	ORPHA:1775
HP:0011314	Abnormal long bone morphology	7012	TERC	ORPHA:1775
HP:0011314	Abnormal long bone morphology	55505	NOP10	ORPHA:1775
HP:0011314	Abnormal long bone morphology	5073	PARN	ORPHA:1775
HP:0011314	Abnormal long bone morphology	7015	TERT	ORPHA:1775
HP:0011314	Abnormal long bone morphology	1736	DKC1	ORPHA:1775
HP:0011314	Abnormal long bone morphology	7298	TYMS	ORPHA:1775
HP:0011314	Abnormal long bone morphology	55315	SLC29A3	ORPHA:1782
HP:0011314	Abnormal long bone morphology	139285	AMER1	ORPHA:2780
HP:0011314	Abnormal long bone morphology	9842	PLEKHM1	OMIM:611497
HP:0011314	Abnormal long bone morphology	79705	LRRK1	OMIM:615198
HP:0100716	Self-injurious behavior	158	ADSL	OMIM:103050
HP:0100716	Self-injurious behavior	339983	NAT8L	OMIM:614063
HP:0100716	Self-injurious behavior	8367	H4C5	OMIM:619950
HP:0100716	Self-injurious behavior	388662	SLC6A17	ORPHA:457212
HP:0100716	Self-injurious behavior	388662	SLC6A17	OMIM:616269
HP:0100716	Self-injurious behavior	23040	MYT1L	OMIM:616521
HP:0100716	Self-injurious behavior	23314	SATB2	ORPHA:251028
HP:0100716	Self-injurious behavior	56623	INPP5E	OMIM:213300
HP:0100716	Self-injurious behavior	3067	HDC	OMIM:137580
HP:0100716	Self-injurious behavior	54499	TMCO1	OMIM:213980
HP:0100716	Self-injurious behavior	57459	GATAD2B	ORPHA:363686
HP:0100716	Self-injurious behavior	4983	OPHN1	OMIM:300486
HP:0100716	Self-injurious behavior	6535	SLC6A8	ORPHA:52503
HP:0100716	Self-injurious behavior	100147744	RNU7-1	OMIM:619487
HP:0100716	Self-injurious behavior	11277	TREX1	OMIM:225750
HP:0100716	Self-injurious behavior	8567	MADD	OMIM:619004
HP:0100716	Self-injurious behavior	8567	MADD	OMIM:619005
HP:0100716	Self-injurious behavior	79868	ALG13	OMIM:300884
HP:0100716	Self-injurious behavior	54820	NDE1	OMIM:605013
HP:0100716	Self-injurious behavior	113246	C12orf57	OMIM:218340
HP:0100716	Self-injurious behavior	284403	WDR62	OMIM:604317
HP:0100716	Self-injurious behavior	818	CAMK2G	OMIM:618522
HP:0100716	Self-injurious behavior	8218	CLTCL1	ORPHA:453510
HP:0100716	Self-injurious behavior	51574	LARP7	ORPHA:319671
HP:0100716	Self-injurious behavior	549	AUH	OMIM:250950
HP:0100716	Self-injurious behavior	55181	SMG8	OMIM:619268
HP:0100716	Self-injurious behavior	10533	ATG7	OMIM:619422
HP:0100716	Self-injurious behavior	79583	TMEM231	OMIM:614970
HP:0100716	Self-injurious behavior	55636	CHD7	OMIM:214800
HP:0100716	Self-injurious behavior	57187	THOC2	ORPHA:457240
HP:0100716	Self-injurious behavior	4247	MGAT2	OMIM:212066
HP:0100716	Self-injurious behavior	3000	GUCY2D	OMIM:204000
HP:0100716	Self-injurious behavior	6121	RPE65	OMIM:204100
HP:0100716	Self-injurious behavior	7287	TULP1	OMIM:613843
HP:0100716	Self-injurious behavior	23418	CRB1	OMIM:613835
HP:0100716	Self-injurious behavior	64802	NMNAT1	OMIM:608553
HP:0100716	Self-injurious behavior	9759	HDAC4	OMIM:600430
HP:0100716	Self-injurious behavior	6638	SNRPN	ORPHA:177904
HP:0100716	Self-injurious behavior	6638	SNRPN	ORPHA:177901
HP:0100716	Self-injurious behavior	6638	SNRPN	ORPHA:177907
HP:0100716	Self-injurious behavior	6638	SNRPN	ORPHA:98754
HP:0100716	Self-injurious behavior	4692	NDN	ORPHA:177904
HP:0100716	Self-injurious behavior	4692	NDN	ORPHA:177901
HP:0100716	Self-injurious behavior	4692	NDN	ORPHA:98754
HP:0100716	Self-injurious behavior	54551	MAGEL2	ORPHA:177904
HP:0100716	Self-injurious behavior	54551	MAGEL2	ORPHA:177901
HP:0100716	Self-injurious behavior	54551	MAGEL2	ORPHA:398069
HP:0100716	Self-injurious behavior	54551	MAGEL2	OMIM:615547
HP:0100716	Self-injurious behavior	54551	MAGEL2	ORPHA:98754
HP:0100716	Self-injurious behavior	4948	OCA2	ORPHA:177904
HP:0100716	Self-injurious behavior	4948	OCA2	ORPHA:177901
HP:0100716	Self-injurious behavior	4948	OCA2	ORPHA:98754
HP:0100716	Self-injurious behavior	7874	USP7	ORPHA:500055
HP:0100716	Self-injurious behavior	26038	CHD5	OMIM:619873
HP:0100716	Self-injurious behavior	6492	SIM1	ORPHA:398079
HP:0100716	Self-injurious behavior	55904	KMT2E	OMIM:618512
HP:0100716	Self-injurious behavior	6532	SLC6A4	OMIM:164230
HP:0100716	Self-injurious behavior	3356	HTR2A	OMIM:164230
HP:0100716	Self-injurious behavior	26047	CNTNAP2	ORPHA:163681
HP:0100716	Self-injurious behavior	23230	VPS13A	ORPHA:2388
HP:0100716	Self-injurious behavior	114798	SLITRK1	OMIM:613229
HP:0100716	Self-injurious behavior	1917	EEF1A2	OMIM:616393
HP:0100716	Self-injurious behavior	6509	SLC1A4	ORPHA:447997
HP:0100716	Self-injurious behavior	85358	SHANK3	ORPHA:48652
HP:0100716	Self-injurious behavior	1798	DPAGT1	ORPHA:86309
HP:0100716	Self-injurious behavior	374969	SVBP	OMIM:618569
HP:0100716	Self-injurious behavior	57551	TAOK1	OMIM:619575
HP:0100716	Self-injurious behavior	10524	KAT5	OMIM:619103
HP:0100716	Self-injurious behavior	5281	PIGF	OMIM:619356
HP:0100716	Self-injurious behavior	5594	MAPK1	OMIM:619087
HP:0100716	Self-injurious behavior	10743	RAI1	OMIM:182290
HP:0100716	Self-injurious behavior	10059	DNM1L	OMIM:614388
HP:0100716	Self-injurious behavior	476	ATP1A1	OMIM:618314
HP:0100716	Self-injurious behavior	9731	CEP104	OMIM:619988
HP:0100716	Self-injurious behavior	340533	NEXMIF	OMIM:300912
HP:0100716	Self-injurious behavior	4914	NTRK1	ORPHA:642
HP:0100716	Self-injurious behavior	199857	ALG14	OMIM:619031
HP:0100716	Self-injurious behavior	2775	GNAO1	OMIM:617493
HP:0100716	Self-injurious behavior	2775	GNAO1	ORPHA:1934
HP:0100716	Self-injurious behavior	123606	NIPA1	ORPHA:261183
HP:0100716	Self-injurious behavior	7283	TUBG1	ORPHA:261183
HP:0100716	Self-injurious behavior	81614	NIPA2	ORPHA:261183
HP:0100716	Self-injurious behavior	11133	KPTN	OMIM:615637
HP:0100716	Self-injurious behavior	11133	KPTN	ORPHA:397612
HP:0100716	Self-injurious behavior	4897	NRCAM	OMIM:619833
HP:0100716	Self-injurious behavior	55777	MBD5	ORPHA:228402
HP:0100716	Self-injurious behavior	55777	MBD5	OMIM:156200
HP:0100716	Self-injurious behavior	1119	CHKA	OMIM:620023
HP:0100716	Self-injurious behavior	7681	MKRN3	OMIM:176270
HP:0100716	Self-injurious behavior	3653	IPW	OMIM:176270
HP:0100716	Self-injurious behavior	791114	PWRN1	OMIM:176270
HP:0100716	Self-injurious behavior	100033413	SNORD116-1	OMIM:176270
HP:0100716	Self-injurious behavior	8924	HERC2	OMIM:176270
HP:0100716	Self-injurious behavior	145624	PWAR1	OMIM:176270
HP:0100716	Self-injurious behavior	23742	NPAP1	OMIM:176270
HP:0100716	Self-injurious behavior	338433	SNORD115-1	OMIM:176270
HP:0100716	Self-injurious behavior	23126	POGZ	ORPHA:468678
HP:0100716	Self-injurious behavior	23126	POGZ	OMIM:616364
HP:0100716	Self-injurious behavior	4784	NFIX	ORPHA:447980
HP:0100716	Self-injurious behavior	2593	GAMT	ORPHA:382
HP:0100716	Self-injurious behavior	5515	PPP2CA	OMIM:618354
HP:0100716	Self-injurious behavior	1387	CREBBP	ORPHA:353281
HP:0100716	Self-injurious behavior	1387	CREBBP	ORPHA:353277
HP:0100716	Self-injurious behavior	9578	CDC42BPB	OMIM:619841
HP:0100716	Self-injurious behavior	80816	ASXL3	OMIM:615485
HP:0100716	Self-injurious behavior	57520	HECW2	OMIM:617268
HP:0100716	Self-injurious behavior	2902	GRIN1	OMIM:617820
HP:0100716	Self-injurious behavior	2902	GRIN1	OMIM:614254
HP:0100716	Self-injurious behavior	2902	GRIN1	ORPHA:1934
HP:0100716	Self-injurious behavior	2902	GRIN1	ORPHA:208447
HP:0100716	Self-injurious behavior	23291	FBXW11	OMIM:618914
HP:0100716	Self-injurious behavior	4953	ODC1	ORPHA:544488
HP:0100716	Self-injurious behavior	2033	EP300	ORPHA:353284
HP:0100716	Self-injurious behavior	2314	FLII	ORPHA:819
HP:0100716	Self-injurious behavior	23096	IQSEC2	ORPHA:819
HP:0100716	Self-injurious behavior	23096	IQSEC2	ORPHA:397933
HP:0100716	Self-injurious behavior	10522	DEAF1	ORPHA:819
HP:0100716	Self-injurious behavior	1717	DHCR7	ORPHA:818
HP:0100716	Self-injurious behavior	5053	PAH	ORPHA:79254
HP:0100716	Self-injurious behavior	7086	TKT	ORPHA:488618
HP:0100716	Self-injurious behavior	7086	TKT	OMIM:617044
HP:0100716	Self-injurious behavior	4952	OCRL	ORPHA:534
HP:0100716	Self-injurious behavior	2891	GRIA2	OMIM:618917
HP:0100716	Self-injurious behavior	6660	SOX5	ORPHA:313892
HP:0100716	Self-injurious behavior	5934	RBL2	OMIM:619690
HP:0100716	Self-injurious behavior	473	RERE	ORPHA:494344
HP:0100716	Self-injurious behavior	473	RERE	ORPHA:1606
HP:0100716	Self-injurious behavior	55250	ELP2	OMIM:617270
HP:0100716	Self-injurious behavior	56992	KIF15	ORPHA:261323
HP:0100716	Self-injurious behavior	2892	GRIA3	OMIM:300699
HP:0100716	Self-injurious behavior	51132	RLIM	OMIM:300978
HP:0100716	Self-injurious behavior	23221	RHOBTB2	OMIM:618004
HP:0100716	Self-injurious behavior	2332	FMR1	ORPHA:449291
HP:0100716	Self-injurious behavior	2332	FMR1	ORPHA:908
HP:0100716	Self-injurious behavior	4128	MAOA	OMIM:300615
HP:0100716	Self-injurious behavior	6601	SMARCC2	OMIM:618362
HP:0100716	Self-injurious behavior	6844	VAMP2	OMIM:618760
HP:0100716	Self-injurious behavior	535	ATP6V0A1	OMIM:619970
HP:0100716	Self-injurious behavior	1759	DNM1	OMIM:616346
HP:0100716	Self-injurious behavior	1183	CLCN4	ORPHA:485350
HP:0100716	Self-injurious behavior	23325	WASHC4	OMIM:615817
HP:0100716	Self-injurious behavior	546	ATRX	ORPHA:847
HP:0100716	Self-injurious behavior	1000	CDH2	OMIM:618929
HP:0100716	Self-injurious behavior	8260	NAA10	ORPHA:568
HP:0100716	Self-injurious behavior	54880	BCOR	ORPHA:568
HP:0100716	Self-injurious behavior	51185	CRBN	OMIM:607417
HP:0100716	Self-injurious behavior	7319	UBE2A	OMIM:300860
HP:0100716	Self-injurious behavior	164	AP1G1	OMIM:619467
HP:0100716	Self-injurious behavior	26040	SETBP1	OMIM:616078
HP:0100716	Self-injurious behavior	3188	HNRNPH2	OMIM:300986
HP:0100716	Self-injurious behavior	22995	CEP152	OMIM:614852
HP:0100716	Self-injurious behavior	3340	NDST1	OMIM:616116
HP:0100716	Self-injurious behavior	3735	KARS1	OMIM:613641
HP:0100716	Self-injurious behavior	7915	ALDH5A1	OMIM:271980
HP:0100716	Self-injurious behavior	1499	CTNNB1	ORPHA:404473
HP:0100716	Self-injurious behavior	6197	RPS6KA3	ORPHA:192
HP:0100716	Self-injurious behavior	1182	CLCN3	OMIM:619512
HP:0100716	Self-injurious behavior	55773	TBC1D23	OMIM:617695
HP:0100716	Self-injurious behavior	259232	NALCN	ORPHA:371364
HP:0100716	Self-injurious behavior	285175	UNC80	ORPHA:371364
HP:0100716	Self-injurious behavior	5590	PRKCZ	ORPHA:1606
HP:0100716	Self-injurious behavior	2563	GABRD	ORPHA:1606
HP:0100716	Self-injurious behavior	23013	SPEN	ORPHA:1606
HP:0100716	Self-injurious behavior	8510	MMP23B	ORPHA:1606
HP:0100716	Self-injurious behavior	7798	LUZP1	ORPHA:1606
HP:0100716	Self-injurious behavior	6497	SKI	ORPHA:1606
HP:0100716	Self-injurious behavior	10630	PDPN	ORPHA:1606
HP:0100716	Self-injurious behavior	3339	HSPG2	ORPHA:1606
HP:0100716	Self-injurious behavior	10277	UBE4B	ORPHA:1606
HP:0100716	Self-injurious behavior	8514	KCNAB2	ORPHA:1606
HP:0100716	Self-injurious behavior	63976	PRDM16	ORPHA:1606
HP:0100716	Self-injurious behavior	54897	CASZ1	ORPHA:1606
HP:0100716	Self-injurious behavior	25914	RTTN	ORPHA:468631
HP:0100716	Self-injurious behavior	8405	SPOP	OMIM:618828
HP:0100716	Self-injurious behavior	8936	WASF1	OMIM:618707
HP:0100716	Self-injurious behavior	6925	TCF4	ORPHA:2896
HP:0100716	Self-injurious behavior	6925	TCF4	OMIM:610954
HP:0100716	Self-injurious behavior	6134	RPL10	ORPHA:435938
HP:0100716	Self-injurious behavior	3251	HPRT1	OMIM:300322
HP:0100716	Self-injurious behavior	26137	ZBTB20	OMIM:259050
HP:0100716	Self-injurious behavior	7204	TRIO	OMIM:617061
HP:0100716	Self-injurious behavior	79813	EHMT1	ORPHA:261652
HP:0100716	Self-injurious behavior	58508	KMT2C	ORPHA:261652
HP:0100716	Self-injurious behavior	58508	KMT2C	OMIM:617768
HP:0100716	Self-injurious behavior	3800	KIF5C	OMIM:615282
HP:0100716	Self-injurious behavior	53335	BCL11A	OMIM:617101
HP:0100716	Self-injurious behavior	55164	SHQ1	OMIM:619922
HP:0100716	Self-injurious behavior	79633	FAT4	ORPHA:314679
HP:0100716	Self-injurious behavior	8642	DCHS1	ORPHA:314679
HP:0100716	Self-injurious behavior	9568	GABBR2	OMIM:617904
HP:0100716	Self-injurious behavior	26154	ABCA12	ORPHA:457
HP:0100716	Self-injurious behavior	84628	NTNG2	OMIM:618718
HP:0100716	Self-injurious behavior	10430	TMEM147	OMIM:620075
HP:0100716	Self-injurious behavior	2706	GJB2	ORPHA:494
HP:0100716	Self-injurious behavior	27086	FOXP1	OMIM:613670
HP:0100716	Self-injurious behavior	25836	NIPBL	OMIM:122470
HP:0100716	Self-injurious behavior	2890	GRIA1	OMIM:619931
HP:0100716	Self-injurious behavior	3458	IFNG	ORPHA:805
HP:0100716	Self-injurious behavior	7248	TSC1	ORPHA:805
HP:0100716	Self-injurious behavior	7249	TSC2	ORPHA:805
HP:0100716	Self-injurious behavior	51322	WAC	ORPHA:466950
HP:0100716	Self-injurious behavior	4693	NDP	ORPHA:649
HP:0100716	Self-injurious behavior	1806	DPYD	ORPHA:293948
HP:0100716	Self-injurious behavior	2702	GJA5	OMIM:612474
HP:0100716	Self-injurious behavior	2703	GJA8	OMIM:612474
HP:0100716	Self-injurious behavior	55367	PIDD1	OMIM:619827
HP:0100716	Self-injurious behavior	2744	GLS	OMIM:618339
HP:0100716	Self-injurious behavior	6857	SYT1	OMIM:618218
HP:0100716	Self-injurious behavior	8905	AP1S2	OMIM:304340
HP:0100716	Self-injurious behavior	6792	CDKL5	ORPHA:1934
HP:0100716	Self-injurious behavior	3736	KCNA1	ORPHA:1934
HP:0100716	Self-injurious behavior	9091	PIGQ	ORPHA:1934
HP:0100716	Self-injurious behavior	81603	TRIM8	ORPHA:1934
HP:0100716	Self-injurious behavior	79751	SLC25A22	ORPHA:1934
HP:0100716	Self-injurious behavior	150094	SIK1	ORPHA:1934
HP:0100716	Self-injurious behavior	8573	CASK	ORPHA:1934
HP:0100716	Self-injurious behavior	23312	DMXL2	ORPHA:1934
HP:0100716	Self-injurious behavior	2917	GRM7	ORPHA:1934
HP:0100716	Self-injurious behavior	170302	ARX	ORPHA:1934
HP:0100716	Self-injurious behavior	11284	PNKP	ORPHA:1934
HP:0100716	Self-injurious behavior	6326	SCN2A	ORPHA:1934
HP:0100716	Self-injurious behavior	51227	PIGP	ORPHA:1934
HP:0100716	Self-injurious behavior	6324	SCN1B	ORPHA:1934
HP:0100716	Self-injurious behavior	4761	NEUROD2	ORPHA:1934
HP:0100718	Uterine rupture	1281	COL3A1	OMIM:130050
HP:0100718	Uterine rupture	1281	COL3A1	ORPHA:286
HP:0100718	Uterine rupture	7046	TGFBR1	ORPHA:60030
HP:0100718	Uterine rupture	10526	IPO8	ORPHA:60030
HP:0100718	Uterine rupture	7048	TGFBR2	ORPHA:60030
HP:0100718	Uterine rupture	4693	NDP	ORPHA:649
HP:0100719	Lens coloboma	57479	PRR12	OMIM:619539
HP:0100719	Lens coloboma	23291	FBXW11	OMIM:618914
HP:0100719	Lens coloboma	2248	FGF3	ORPHA:2791
HP:4000010	Impaired renal tubular reabsorption of bicarbonate	8671	SLC4A4	OMIM:604278
HP:0005769	Fifth finger distal phalanx clinodactyly	4882	NPR2	OMIM:615923
HP:0005769	Fifth finger distal phalanx clinodactyly	2697	GJA1	OMIM:257850
HP:0005768	2-4 toe cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0005768	2-4 toe cutaneous syndactyly	374969	SVBP	OMIM:618569
HP:0005768	2-4 toe cutaneous syndactyly	1859	DYRK1A	ORPHA:268261
HP:0005768	2-4 toe cutaneous syndactyly	2697	GJA1	OMIM:257850
HP:0005767	1-2 toe complete cutaneous syndactyly	51776	MAP3K20	ORPHA:488232
HP:0005766	Disproportionate shortening of the tibia	4750	NEK1	OMIM:263520
HP:0005765	Sacral meningocele	81839	VANGL1	OMIM:600145
HP:0005765	Sacral meningocele	3110	MNX1	OMIM:176450
HP:0031606	Retinal cotton wool spot	11277	TREX1	ORPHA:247691
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	OMIM:200700
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	OMIM:201250
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	ORPHA:2098
HP:0005772	Aplasia/Hypoplasia of the tibia	153241	CEP120	OMIM:616300
HP:0005772	Aplasia/Hypoplasia of the tibia	10082	GPC6	OMIM:258315
HP:0005772	Aplasia/Hypoplasia of the tibia	7355	SLC35A2	ORPHA:356961
HP:0005772	Aplasia/Hypoplasia of the tibia	658	BMPR1B	ORPHA:2098
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	OMIM:127300
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	ORPHA:240
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	OMIM:249700
HP:0005772	Aplasia/Hypoplasia of the tibia	64093	SMOC1	ORPHA:1106
HP:0005772	Aplasia/Hypoplasia of the tibia	79087	ALG12	OMIM:607143
HP:0005772	Aplasia/Hypoplasia of the tibia	2317	FLNB	ORPHA:56305
HP:0005772	Aplasia/Hypoplasia of the tibia	3549	IHH	OMIM:607778
HP:0005772	Aplasia/Hypoplasia of the tibia	3977	LIFR	OMIM:601559
HP:0005772	Aplasia/Hypoplasia of the tibia	9775	EIF4A3	OMIM:268305
HP:0005772	Aplasia/Hypoplasia of the tibia	27152	INTU	OMIM:617925
HP:0005772	Aplasia/Hypoplasia of the tibia	388015	RTL1	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	8788	DLK1	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	55384	MEG3	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	3911	LAMA5	OMIM:620076
HP:0005772	Aplasia/Hypoplasia of the tibia	29980	DONSON	OMIM:251230
HP:0005772	Aplasia/Hypoplasia of the tibia	4750	NEK1	OMIM:263520
HP:0005772	Aplasia/Hypoplasia of the tibia	727857	BHLHA9	ORPHA:3329
HP:0005772	Aplasia/Hypoplasia of the tibia	727857	BHLHA9	ORPHA:1986
HP:0005772	Aplasia/Hypoplasia of the tibia	57688	ZSWIM6	ORPHA:1827
HP:0005772	Aplasia/Hypoplasia of the tibia	64327	LMBR1	ORPHA:988
HP:0005772	Aplasia/Hypoplasia of the tibia	6469	SHH	ORPHA:988
HP:0005772	Aplasia/Hypoplasia of the tibia	26123	TCTN3	ORPHA:2753
HP:0005772	Aplasia/Hypoplasia of the tibia	219844	HYLS1	OMIM:236680
HP:0005772	Aplasia/Hypoplasia of the tibia	79659	DYNC2H1	OMIM:613091
HP:0005772	Aplasia/Hypoplasia of the tibia	538	ATP7A	ORPHA:198
HP:0005772	Aplasia/Hypoplasia of the tibia	5307	PITX1	OMIM:119800
HP:0005772	Aplasia/Hypoplasia of the tibia	55636	CHD7	OMIM:214800
HP:0005772	Aplasia/Hypoplasia of the tibia	2737	GLI3	ORPHA:93322
HP:0005773	Short forearm	9939	RBM8A	OMIM:274000
HP:0100720	Hypoplasia of the ear cartilage	51002	TPRKB	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	84942	WDR73	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	55644	OSGEP	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	57122	NUP107	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	10785	WDR4	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	55746	NUP133	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	112858	TP53RK	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	8270	LAGE3	ORPHA:2065
HP:0100720	Hypoplasia of the ear cartilage	10225	CD96	ORPHA:1308
HP:0100720	Hypoplasia of the ear cartilage	4921	DDR2	OMIM:618175
HP:0100721	Mediastinal lymphadenopathy	26191	PTPN22	ORPHA:397
HP:0100721	Mediastinal lymphadenopathy	3106	HLA-B	ORPHA:397
HP:0100721	Mediastinal lymphadenopathy	3123	HLA-DRB1	ORPHA:397
HP:0100721	Mediastinal lymphadenopathy	3123	HLA-DRB1	OMIM:181000
HP:0100721	Mediastinal lymphadenopathy	3123	HLA-DRB1	ORPHA:545
HP:0100721	Mediastinal lymphadenopathy	8974	P4HA2	ORPHA:397
HP:0100721	Mediastinal lymphadenopathy	3115	HLA-DPB1	ORPHA:133
HP:0100721	Mediastinal lymphadenopathy	348	APOE	ORPHA:158029
HP:0100721	Mediastinal lymphadenopathy	330	BIRC3	ORPHA:52417
HP:0100721	Mediastinal lymphadenopathy	10892	MALT1	ORPHA:52417
HP:0100721	Mediastinal lymphadenopathy	27086	FOXP1	ORPHA:52417
HP:0100721	Mediastinal lymphadenopathy	3492	IGH	ORPHA:52417
HP:0100721	Mediastinal lymphadenopathy	3492	IGH	ORPHA:545
HP:0100721	Mediastinal lymphadenopathy	8915	BCL10	ORPHA:52417
HP:0100721	Mediastinal lymphadenopathy	84061	MAGT1	OMIM:300853
HP:0100721	Mediastinal lymphadenopathy	7015	TERT	OMIM:614742
HP:0100721	Mediastinal lymphadenopathy	56244	BTNL2	OMIM:612387
HP:0100721	Mediastinal lymphadenopathy	5580	PRKCD	OMIM:615559
HP:0100721	Mediastinal lymphadenopathy	596	BCL2	ORPHA:545
HP:0100721	Mediastinal lymphadenopathy	604	BCL6	ORPHA:545
HP:0100721	Mediastinal lymphadenopathy	440275	EIF2AK4	ORPHA:199241
HP:0100721	Mediastinal lymphadenopathy	440275	EIF2AK4	OMIM:234810
HP:0100721	Mediastinal lymphadenopathy	2130	EWSR1	ORPHA:83469
HP:0100721	Mediastinal lymphadenopathy	7490	WT1	ORPHA:83469
HP:0100721	Mediastinal lymphadenopathy	10125	RASGRP1	OMIM:618534
HP:0100721	Mediastinal lymphadenopathy	5294	PIK3CG	OMIM:619802
HP:0100721	Mediastinal lymphadenopathy	3662	IRF4	ORPHA:3452
HP:0100721	Mediastinal lymphadenopathy	10551	AGR2	OMIM:620233
HP:0100721	Mediastinal lymphadenopathy	1536	CYBB	ORPHA:379
HP:0100721	Mediastinal lymphadenopathy	4688	NCF2	ORPHA:379
HP:0100721	Mediastinal lymphadenopathy	1535	CYBA	ORPHA:379
HP:0100721	Mediastinal lymphadenopathy	4689	NCF4	ORPHA:379
HP:0100721	Mediastinal lymphadenopathy	653361	NCF1	ORPHA:379
HP:0100721	Mediastinal lymphadenopathy	79415	CYBC1	ORPHA:379
HP:0100723	Gastrointestinal stroma tumor	5156	PDGFRA	OMIM:175510
HP:0100723	Gastrointestinal stroma tumor	5156	PDGFRA	ORPHA:44890
HP:0100723	Gastrointestinal stroma tumor	23495	TNFRSF13B	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	4790	NFKB1	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	4791	NFKB2	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	115650	TNFRSF13C	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	1380	CR2	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	8742	TNFSF12	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	5580	PRKCD	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	930	CD19	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	29851	ICOS	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	931	MS4A1	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	975	CD81	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	359948	IRF2BP2	ORPHA:1572
HP:0100723	Gastrointestinal stroma tumor	6390	SDHB	OMIM:606764
HP:0100723	Gastrointestinal stroma tumor	6390	SDHB	ORPHA:97286
HP:0100723	Gastrointestinal stroma tumor	6390	SDHB	ORPHA:44890
HP:0100723	Gastrointestinal stroma tumor	6390	SDHB	OMIM:115310
HP:0100723	Gastrointestinal stroma tumor	6391	SDHC	OMIM:606764
HP:0100723	Gastrointestinal stroma tumor	6391	SDHC	ORPHA:97286
HP:0100723	Gastrointestinal stroma tumor	6391	SDHC	ORPHA:44890
HP:0100723	Gastrointestinal stroma tumor	3815	KIT	OMIM:606764
HP:0100723	Gastrointestinal stroma tumor	3815	KIT	ORPHA:44890
HP:0100723	Gastrointestinal stroma tumor	6392	SDHD	ORPHA:97286
HP:0100723	Gastrointestinal stroma tumor	4763	NF1	ORPHA:97685
HP:0100723	Gastrointestinal stroma tumor	6389	SDHA	ORPHA:44890
HP:0100724	Hypercoagulability	4615	MYD88	ORPHA:33226
HP:0100724	Hypercoagulability	3043	HBB	ORPHA:231222
HP:0100724	Hypercoagulability	2153	F5	OMIM:188055
HP:0100724	Hypercoagulability	1738	DLD	ORPHA:2394
HP:0100724	Hypercoagulability	2158	F9	OMIM:300807
HP:0100724	Hypercoagulability	7056	THBD	OMIM:614486
HP:0100724	Hypercoagulability	5627	PROS1	OMIM:614514
HP:0100724	Hypercoagulability	5627	PROS1	OMIM:612336
HP:0100724	Hypercoagulability	3273	HRG	OMIM:613116
HP:0100724	Hypercoagulability	5624	PROC	OMIM:612304
HP:0100724	Hypercoagulability	5624	PROC	OMIM:176860
HP:0100724	Hypercoagulability	55109	AGGF1	ORPHA:90308
HP:0100724	Hypercoagulability	2038	EPB42	ORPHA:822
HP:0100724	Hypercoagulability	6521	SLC4A1	ORPHA:822
HP:0100724	Hypercoagulability	6710	SPTB	ORPHA:822
HP:0100724	Hypercoagulability	6708	SPTA1	ORPHA:822
HP:0100724	Hypercoagulability	286	ANK1	ORPHA:822
HP:0100724	Hypercoagulability	2624	GATA2	ORPHA:3226
HP:0100725	Lichenification	3858	KRT10	OMIM:607602
HP:0100725	Lichenification	4914	NTRK1	ORPHA:642
HP:0100725	Lichenification	4914	NTRK1	OMIM:256800
HP:0100725	Lichenification	9180	OSMR	OMIM:105250
HP:0100725	Lichenification	1475	CSTA	OMIM:607936
HP:0100725	Lichenification	1493	CTLA4	ORPHA:3162
HP:0100725	Lichenification	940	CD28	ORPHA:3162
HP:0100725	Lichenification	7133	TNFRSF1B	ORPHA:3162
HP:0100725	Lichenification	1294	COL7A1	ORPHA:89843
HP:0100725	Lichenification	3122	HLA-DRA	ORPHA:505
HP:0100725	Lichenification	3930	LBR	ORPHA:779
HP:0100725	Lichenification	2324	FLT4	ORPHA:79452
HP:0100725	Lichenification	57165	GJC2	ORPHA:79452
HP:0100725	Lichenification	79092	CARD14	ORPHA:2897
HP:0100726	Kaposi's sarcoma	6786	STIM1	OMIM:612783
HP:0100726	Kaposi's sarcoma	3569	IL6	OMIM:148000
HP:0100726	Kaposi's sarcoma	7293	TNFRSF4	OMIM:615593
HP:0100727	Histiocytosis	3459	IFNGR1	OMIM:209950
HP:0100727	Histiocytosis	55315	SLC29A3	OMIM:602782
HP:0100727	Histiocytosis	55315	SLC29A3	ORPHA:168569
HP:0100727	Histiocytosis	2859	GPR35	ORPHA:171
HP:0100727	Histiocytosis	10507	SEMA4D	ORPHA:171
HP:0100727	Histiocytosis	4485	MST1	ORPHA:171
HP:0100727	Histiocytosis	6925	TCF4	ORPHA:171
HP:0100728	Germ cell neoplasia	1028	CDKN1C	OMIM:130650
HP:0100728	Germ cell neoplasia	10984	KCNQ1OT1	OMIM:130650
HP:0100728	Germ cell neoplasia	3481	IGF2	OMIM:130650
HP:0100728	Germ cell neoplasia	3784	KCNQ1	OMIM:130650
HP:0100728	Germ cell neoplasia	6736	SRY	ORPHA:1772
HP:0100728	Germ cell neoplasia	6736	SRY	ORPHA:251510
HP:0100728	Germ cell neoplasia	6736	SRY	OMIM:400044
HP:0100728	Germ cell neoplasia	6662	SOX9	ORPHA:251510
HP:0100728	Germ cell neoplasia	6845	VAMP7	ORPHA:251510
HP:0100728	Germ cell neoplasia	51741	WWOX	ORPHA:251510
HP:0100728	Germ cell neoplasia	2516	NR5A1	ORPHA:251510
HP:0100728	Germ cell neoplasia	7490	WT1	ORPHA:251510
HP:0100728	Germ cell neoplasia	7490	WT1	OMIM:194072
HP:0100728	Germ cell neoplasia	7490	WT1	ORPHA:347
HP:0100728	Germ cell neoplasia	58524	DMRT3	ORPHA:251510
HP:0100728	Germ cell neoplasia	57647	DHX37	ORPHA:251510
HP:0100728	Germ cell neoplasia	23414	ZFPM2	ORPHA:251510
HP:0100728	Germ cell neoplasia	190	NR0B1	ORPHA:251510
HP:0100728	Germ cell neoplasia	2626	GATA4	ORPHA:251510
HP:0100728	Germ cell neoplasia	5080	PAX6	OMIM:194072
HP:0100728	Germ cell neoplasia	4437	MSH3	ORPHA:480536
HP:0100728	Germ cell neoplasia	5573	PRKAR1A	ORPHA:1359
HP:0100728	Germ cell neoplasia	50940	PDE11A	ORPHA:1359
HP:0100728	Germ cell neoplasia	3110	MNX1	ORPHA:1552
HP:0100728	Germ cell neoplasia	26040	SETBP1	OMIM:269150
HP:0100728	Germ cell neoplasia	26040	SETBP1	ORPHA:798
HP:0100728	Germ cell neoplasia	64324	NSD1	ORPHA:821
HP:0100728	Germ cell neoplasia	29072	SETD2	ORPHA:821
HP:0100728	Germ cell neoplasia	10297	APC2	ORPHA:821
HP:0100728	Germ cell neoplasia	412	STS	ORPHA:281090
HP:0100728	Germ cell neoplasia	9817	KEAP1	ORPHA:276399
HP:0100728	Germ cell neoplasia	23405	DICER1	ORPHA:276399
HP:0100728	Germ cell neoplasia	4214	MAP3K1	OMIM:613762
HP:0100728	Germ cell neoplasia	999	CDH1	OMIM:167000
HP:0100728	Germ cell neoplasia	5071	PRKN	OMIM:167000
HP:0100728	Germ cell neoplasia	4978	OPCML	OMIM:167000
HP:0100728	Germ cell neoplasia	207	AKT1	OMIM:167000
HP:0100728	Germ cell neoplasia	2064	ERBB2	OMIM:167000
HP:0100728	Germ cell neoplasia	5290	PIK3CA	OMIM:167000
HP:0100728	Germ cell neoplasia	1499	CTNNB1	OMIM:167000
HP:0100728	Germ cell neoplasia	2263	FGFR2	OMIM:123500
HP:0100728	Germ cell neoplasia	50846	DHH	OMIM:233420
HP:0100728	Germ cell neoplasia	367	AR	ORPHA:90797
HP:0100728	Germ cell neoplasia	367	AR	ORPHA:99429
HP:0100728	Germ cell neoplasia	54894	RNF43	ORPHA:157798
HP:0100728	Germ cell neoplasia	7157	TP53	OMIM:151623
HP:0100728	Germ cell neoplasia	7157	TP53	ORPHA:524
HP:0100728	Germ cell neoplasia	1029	CDKN2A	ORPHA:524
HP:0100728	Germ cell neoplasia	4193	MDM2	ORPHA:524
HP:0100728	Germ cell neoplasia	11200	CHEK2	ORPHA:524
HP:0100728	Germ cell neoplasia	6794	STK11	OMIM:273300
HP:0100728	Germ cell neoplasia	8915	BCL10	OMIM:273300
HP:0100728	Germ cell neoplasia	3815	KIT	OMIM:273300
HP:0100728	Germ cell neoplasia	2261	FGFR3	OMIM:273300
HP:0100729	Large face	2137	EXTL3	ORPHA:508533
HP:0100729	Large face	2673	GFPT1	OMIM:608931
HP:0100729	Large face	1145	CHRNE	OMIM:608931
HP:0100729	Large face	6535	SLC6A8	OMIM:300352
HP:0100729	Large face	11253	MAN1B1	ORPHA:397941
HP:0100729	Large face	11253	MAN1B1	OMIM:614202
HP:0100729	Large face	324	APC	ORPHA:261584
HP:0100729	Large face	1183	CLCN4	OMIM:300114
HP:0100729	Large face	1183	CLCN4	ORPHA:485350
HP:0100729	Large face	2138	EYA1	OMIM:113650
HP:0100729	Large face	2138	EYA1	OMIM:166780
HP:0100729	Large face	6495	SIX1	OMIM:113650
HP:0100729	Large face	9853	RUSC2	OMIM:617773
HP:0100729	Large face	5913	RAPSN	OMIM:616326
HP:0100729	Large face	4897	NRCAM	OMIM:619833
HP:0100729	Large face	145173	B3GLCT	ORPHA:709
HP:0100729	Large face	145173	B3GLCT	OMIM:261540
HP:0100729	Large face	26040	SETBP1	ORPHA:436151
HP:0100729	Large face	26040	SETBP1	OMIM:616078
HP:0100729	Large face	91801	ALKBH8	OMIM:618504
HP:0100729	Large face	3703	STT3A	OMIM:619714
HP:0100729	Large face	538	ATP7A	OMIM:304150
HP:0100729	Large face	5457	POU4F1	ORPHA:314647
HP:0100729	Large face	23261	CAMTA1	ORPHA:314647
HP:0100729	Large face	23261	CAMTA1	OMIM:614756
HP:0100729	Large face	1161	ERCC8	ORPHA:90321
HP:0100729	Large face	1161	ERCC8	ORPHA:90322
HP:0100729	Large face	2072	ERCC4	ORPHA:90321
HP:0100729	Large face	2074	ERCC6	ORPHA:90321
HP:0100729	Large face	2074	ERCC6	ORPHA:90322
HP:0100729	Large face	10084	PQBP1	ORPHA:93950
HP:0100729	Large face	10084	PQBP1	ORPHA:93945
HP:0100729	Large face	10084	PQBP1	ORPHA:93947
HP:0100729	Large face	10084	PQBP1	OMIM:309500
HP:0100729	Large face	64324	NSD1	ORPHA:821
HP:0100729	Large face	64324	NSD1	OMIM:117550
HP:0100729	Large face	29072	SETD2	ORPHA:821
HP:0100729	Large face	29072	SETD2	OMIM:620157
HP:0100729	Large face	29072	SETD2	OMIM:620155
HP:0100729	Large face	29072	SETD2	OMIM:616831
HP:0100729	Large face	10297	APC2	ORPHA:821
HP:0100729	Large face	10297	APC2	OMIM:617169
HP:0100729	Large face	2067	ERCC1	ORPHA:90322
HP:0100729	Large face	3190	HNRNPK	ORPHA:453504
HP:0100729	Large face	3190	HNRNPK	OMIM:616580
HP:0100729	Large face	3190	HNRNPK	ORPHA:352665
HP:0100729	Large face	4784	NFIX	ORPHA:447980
HP:0100729	Large face	4784	NFIX	OMIM:614753
HP:0100729	Large face	4983	OPHN1	OMIM:300486
HP:0100729	Large face	23118	TAB2	ORPHA:228410
HP:0100729	Large face	10479	SLC9A6	OMIM:300243
HP:0100729	Large face	10479	SLC9A6	ORPHA:85278
HP:0100729	Large face	9578	CDC42BPB	OMIM:619841
HP:0100729	Large face	613	BCR	ORPHA:261330
HP:0100729	Large face	1399	CRKL	ORPHA:261330
HP:0100729	Large face	5594	MAPK1	ORPHA:261330
HP:0100729	Large face	7552	ZNF711	OMIM:300803
HP:0100729	Large face	89910	UBE3B	OMIM:244450
HP:0100729	Large face	89910	UBE3B	ORPHA:2707
HP:0100729	Large face	283489	CHAMP1	OMIM:616579
HP:0100729	Large face	10026	PIGK	OMIM:618879
HP:0100729	Large face	23322	RPGRIP1L	ORPHA:220497
HP:0100729	Large face	23322	RPGRIP1L	ORPHA:1454
HP:0100729	Large face	4867	NPHP1	ORPHA:220497
HP:0100729	Large face	65062	TMEM237	ORPHA:220497
HP:0100729	Large face	65062	TMEM237	ORPHA:475
HP:0100729	Large face	65062	TMEM237	ORPHA:2318
HP:0100729	Large face	54806	AHI1	ORPHA:220493
HP:0100729	Large face	54806	AHI1	ORPHA:475
HP:0100729	Large face	56623	INPP5E	ORPHA:220493
HP:0100729	Large face	56623	INPP5E	ORPHA:475
HP:0100729	Large face	56623	INPP5E	ORPHA:1454
HP:0100729	Large face	153241	CEP120	ORPHA:220493
HP:0100729	Large face	153241	CEP120	ORPHA:475
HP:0100729	Large face	54903	MKS1	ORPHA:220493
HP:0100729	Large face	54903	MKS1	ORPHA:475
HP:0100729	Large face	95681	CEP41	ORPHA:220493
HP:0100729	Large face	95681	CEP41	ORPHA:475
HP:0100729	Large face	1146	CHRNG	OMIM:265000
HP:0100729	Large face	1146	CHRNG	ORPHA:2990
HP:0100729	Large face	7102	TSPAN7	OMIM:300210
HP:0100729	Large face	57589	RIC1	OMIM:618761
HP:0100729	Large face	2590	GALNT2	OMIM:618885
HP:0100729	Large face	284058	KANSL1	ORPHA:363958
HP:0100729	Large face	284058	KANSL1	ORPHA:363965
HP:0100729	Large face	284058	KANSL1	OMIM:610443
HP:0100729	Large face	55154	MSTO1	OMIM:617675
HP:0100729	Large face	55154	MSTO1	ORPHA:502423
HP:0100729	Large face	84665	MYPN	ORPHA:171881
HP:0100729	Large face	84665	MYPN	ORPHA:171439
HP:0100729	Large face	7169	TPM2	ORPHA:171881
HP:0100729	Large face	7169	TPM2	ORPHA:2020
HP:0100729	Large face	7169	TPM2	ORPHA:171439
HP:0100729	Large face	7170	TPM3	ORPHA:171881
HP:0100729	Large face	7170	TPM3	ORPHA:2020
HP:0100729	Large face	7170	TPM3	OMIM:255310
HP:0100729	Large face	7170	TPM3	ORPHA:171439
HP:0100729	Large face	7170	TPM3	OMIM:609284
HP:0100729	Large face	80204	FBXO11	OMIM:618089
HP:0100729	Large face	274	BIN1	OMIM:255200
HP:0100729	Large face	274	BIN1	ORPHA:169186
HP:0100729	Large face	83550	GPR101	ORPHA:963
HP:0100729	Large face	9049	AIP	ORPHA:963
HP:0100729	Large face	222663	SCUBE3	OMIM:619184
HP:0100729	Large face	6872	TAF1	ORPHA:480907
HP:0100729	Large face	6872	TAF1	OMIM:300966
HP:0100729	Large face	57190	SELENON	ORPHA:2020
HP:0100729	Large face	58	ACTA1	ORPHA:2020
HP:0100729	Large face	58	ACTA1	ORPHA:171439
HP:0100729	Large face	4633	MYL2	ORPHA:2020
HP:0100729	Large face	3679	ITGA7	ORPHA:2020
HP:0100729	Large face	9200	HACD1	ORPHA:2020
HP:0100729	Large face	51776	MAP3K20	ORPHA:2020
HP:0100729	Large face	4763	NF1	ORPHA:363700
HP:0100729	Large face	23327	NEDD4L	OMIM:617201
HP:0100729	Large face	5813	PURA	ORPHA:438216
HP:0100729	Large face	23314	SATB2	OMIM:612313
HP:0100729	Large face	23314	SATB2	ORPHA:251028
HP:0100729	Large face	23314	SATB2	ORPHA:251019
HP:0100729	Large face	4338	MOCS2	OMIM:252160
HP:0100729	Large face	25942	SIN3A	OMIM:613406
HP:0100729	Large face	25942	SIN3A	ORPHA:94065
HP:0100729	Large face	4534	MTM1	ORPHA:596
HP:0100729	Large face	4534	MTM1	OMIM:310400
HP:0100729	Large face	79600	TCTN1	ORPHA:475
HP:0100729	Large face	79848	CSPP1	ORPHA:475
HP:0100729	Large face	51684	SUFU	ORPHA:475
HP:0100729	Large face	65250	CPLANE1	ORPHA:475
HP:0100729	Large face	65250	CPLANE1	ORPHA:2754
HP:0100729	Large face	91147	TMEM67	ORPHA:475
HP:0100729	Large face	91147	TMEM67	ORPHA:1454
HP:0100729	Large face	200894	ARL13B	ORPHA:475
HP:0100729	Large face	9731	CEP104	ORPHA:475
HP:0100729	Large face	219844	HYLS1	ORPHA:475
HP:0100729	Large face	23247	KATNIP	ORPHA:475
HP:0100729	Large face	219854	TMEM218	ORPHA:475
HP:0100729	Large face	9786	KIAA0586	ORPHA:475
HP:0100729	Large face	79867	TCTN2	ORPHA:475
HP:0100729	Large face	80776	B9D2	ORPHA:475
HP:0100729	Large face	10464	PIBF1	ORPHA:475
HP:0100729	Large face	80210	ARMC9	ORPHA:475
HP:0100729	Large face	23116	TOGARAM1	ORPHA:475
HP:0100729	Large face	25776	CBY1	ORPHA:475
HP:0100729	Large face	27077	B9D1	ORPHA:475
HP:0100729	Large face	403	ARL3	ORPHA:475
HP:0100729	Large face	6445	SGCG	ORPHA:353
HP:0100729	Large face	253738	EBF3	OMIM:617330
HP:0100729	Large face	65109	UPF3B	OMIM:300676
HP:0100729	Large face	1182	CLCN3	OMIM:619512
HP:0100729	Large face	8905	AP1S2	ORPHA:85335
HP:0100729	Large face	8905	AP1S2	ORPHA:85329
HP:0100729	Large face	8905	AP1S2	OMIM:304340
HP:0100729	Large face	51633	OTUD6B	OMIM:617452
HP:0100729	Large face	51633	OTUD6B	ORPHA:505237
HP:0100729	Large face	2332	FMR1	ORPHA:908
HP:0100729	Large face	2332	FMR1	ORPHA:449291
HP:0100729	Large face	2332	FMR1	OMIM:300624
HP:0100729	Large face	51692	CPSF3	OMIM:619876
HP:0100729	Large face	81031	SLC2A10	ORPHA:3342
HP:0100729	Large face	81031	SLC2A10	OMIM:208050
HP:0100729	Large face	6134	RPL10	ORPHA:459070
HP:0100729	Large face	23345	SYNE1	ORPHA:319332
HP:0100729	Large face	55719	SLF2	OMIM:620184
HP:0100729	Large face	23137	SMC5	OMIM:620185
HP:0100729	Large face	2248	FGF3	OMIM:610706
HP:0100729	Large face	2248	FGF3	ORPHA:2791
HP:0100729	Large face	2248	FGF3	ORPHA:90024
HP:0100729	Large face	55210	ATAD3A	ORPHA:496790
HP:0100729	Large face	55210	ATAD3A	OMIM:617183
HP:0100729	Large face	5605	MAP2K2	OMIM:615280
HP:0100729	Large face	5605	MAP2K2	ORPHA:1340
HP:0100729	Large face	54828	BCAS3	OMIM:619641
HP:0100729	Large face	56098	PCDHGC4	OMIM:619880
HP:0100729	Large face	4256	MGP	ORPHA:85202
HP:0100729	Large face	4256	MGP	OMIM:245150
HP:0100729	Large face	6942	TCF20	OMIM:618430
HP:0100729	Large face	200424	TET3	OMIM:618798
HP:0100729	Large face	51244	CCDC174	OMIM:616816
HP:0100729	Large face	10430	TMEM147	OMIM:620075
HP:0100729	Large face	3187	HNRNPH1	OMIM:620083
HP:0100729	Large face	5373	PMM2	ORPHA:79318
HP:0100729	Large face	9342	SNAP29	OMIM:609528
HP:0100729	Large face	9342	SNAP29	ORPHA:66631
HP:0100729	Large face	23162	MAPK8IP3	OMIM:618443
HP:0100729	Large face	9968	MED12	OMIM:300895
HP:0100729	Large face	9968	MED12	OMIM:309520
HP:0100729	Large face	79989	IFT56	OMIM:619534
HP:0100729	Large face	254065	BRWD3	OMIM:300659
HP:0100729	Large face	7994	KAT6A	OMIM:616268
HP:0100729	Large face	4088	SMAD3	OMIM:613795
HP:0100729	Large face	4088	SMAD3	ORPHA:284984
HP:0100729	Large face	4087	SMAD2	OMIM:619656
HP:0100729	Large face	4087	SMAD2	OMIM:619657
HP:0100729	Large face	390594	KBTBD13	ORPHA:171439
HP:0100729	Large face	4703	NEB	ORPHA:171439
HP:0100729	Large face	10324	KLHL41	ORPHA:171439
HP:0100729	Large face	7476	WNT7A	OMIM:276820
HP:0100729	Large face	84317	CCDC115	OMIM:616828
HP:0100729	Large face	3954	LETM1	OMIM:620089
HP:0100729	Large face	79087	ALG12	ORPHA:79324
HP:0100729	Large face	6567	SLC16A2	ORPHA:59
HP:0100729	Large face	171023	ASXL1	OMIM:605039
HP:0100729	Large face	10533	ATG7	OMIM:619422
HP:0100729	Large face	1523	CUX1	OMIM:618330
HP:0100729	Large face	4212	MEIS2	ORPHA:261190
HP:0100729	Large face	22907	DHX30	OMIM:617804
HP:0100729	Large face	10075	HUWE1	OMIM:309590
HP:0100729	Large face	10290	SPEG	ORPHA:169186
HP:0100729	Large face	6261	RYR1	ORPHA:169186
HP:0100729	Large face	7273	TTN	ORPHA:169186
HP:0100729	Large face	8925	HERC1	OMIM:617011
HP:0100729	Large face	8925	HERC1	ORPHA:457359
HP:0100729	Large face	1281	COL3A1	OMIM:618343
HP:0100729	Large face	23013	SPEN	OMIM:619312
HP:0100729	Large face	23394	ADNP	OMIM:615873
HP:0100729	Large face	79912	PYROXD1	OMIM:617258
HP:0100729	Large face	50814	NSDHL	ORPHA:251383
HP:0100729	Large face	50814	NSDHL	OMIM:300831
HP:0100729	Large face	128869	PIGU	OMIM:618590
HP:0100729	Large face	113179	ADAT3	ORPHA:363528
HP:0100729	Large face	10982	MAPRE2	OMIM:616734
HP:0100729	Large face	4952	OCRL	ORPHA:534
HP:0100729	Large face	84679	SLC9A7	OMIM:301024
HP:0100729	Large face	4810	NHS	OMIM:302350
HP:0100729	Large face	4810	NHS	ORPHA:627
HP:0100729	Large face	2200	FBN1	OMIM:154700
HP:0100729	Large face	63035	BCORL1	OMIM:301029
HP:0100729	Large face	8831	SYNGAP1	ORPHA:544254
HP:0100729	Large face	5604	MAP2K1	ORPHA:1340
HP:0100729	Large face	3845	KRAS	ORPHA:1340
HP:0100729	Large face	673	BRAF	ORPHA:1340
HP:0100729	Large face	1312	COMT	ORPHA:567
HP:0100729	Large face	221037	JMJD1C	ORPHA:567
HP:0100729	Large face	2812	GP1BB	ORPHA:567
HP:0100729	Large face	6239	RREB1	ORPHA:567
HP:0100729	Large face	6899	TBX1	ORPHA:567
HP:0100729	Large face	7290	HIRA	ORPHA:567
HP:0100729	Large face	9632	SEC24C	ORPHA:567
HP:0100729	Large face	7353	UFD1	ORPHA:567
HP:0100729	Large face	421	ARVCF	ORPHA:567
HP:0100729	Large face	79583	TMEM231	ORPHA:2318
HP:0100729	Large face	51524	TMEM138	ORPHA:2318
HP:0100729	Large face	23090	ZNF423	ORPHA:2318
HP:0100729	Large face	80184	CEP290	ORPHA:2318
HP:0100729	Large face	51259	TMEM216	ORPHA:2318
HP:0100729	Large face	51259	TMEM216	ORPHA:2754
HP:0100729	Large face	57545	CC2D2A	ORPHA:2318
HP:0100729	Large face	57545	CC2D2A	ORPHA:1454
HP:0100729	Large face	444	ASPH	OMIM:601552
HP:0100729	Large face	7703	PCGF2	OMIM:618371
HP:0100729	Large face	5422	POLA1	OMIM:301030
HP:0100729	Large face	22808	MRAS	OMIM:618499
HP:0100729	Large face	79576	NKAP	OMIM:301039
HP:0100729	Large face	9401	RECQL4	OMIM:266280
HP:0100729	Large face	116442	RAB39B	OMIM:300271
HP:0100729	Large face	6611	SMS	ORPHA:3063
HP:0100729	Large face	9757	KMT2B	ORPHA:589618
HP:0100729	Large face	10847	SRCAP	OMIM:619595
HP:0100729	Large face	4337	MOCS1	OMIM:252150
HP:0100729	Large face	51002	TPRKB	OMIM:617731
HP:0100729	Large face	4659	PPP1R12A	OMIM:618820
HP:0100729	Large face	4796	TONSL	ORPHA:93357
HP:0100729	Large face	5728	PTEN	ORPHA:744
HP:0100729	Large face	207	AKT1	ORPHA:744
HP:0100729	Large face	207	AKT1	OMIM:176920
HP:0100729	Large face	63932	STEEP1	OMIM:301013
HP:0100729	Large face	54880	BCOR	OMIM:300166
HP:0100729	Large face	51305	KCNK9	OMIM:612292
HP:0100729	Large face	4841	NONO	OMIM:300967
HP:0100729	Large face	4841	NONO	ORPHA:466791
HP:0100729	Large face	5058	PAK1	OMIM:618158
HP:0100729	Large face	29123	ANKRD11	ORPHA:261250
HP:0100729	Large face	91875	TTC5	OMIM:619244
HP:0100729	Large face	10293	TRAIP	OMIM:616777
HP:0100729	Large face	9702	CEP57	OMIM:614114
HP:0100729	Large face	92335	STRADA	OMIM:611087
HP:0100729	Large face	1654	DDX3X	OMIM:300958
HP:0100729	Large face	60482	SLC5A7	ORPHA:98914
HP:0100729	Large face	4649	MYO9A	ORPHA:98914
HP:0100729	Large face	1305	COL13A1	ORPHA:98914
HP:0100729	Large face	1103	CHAT	ORPHA:98914
HP:0100729	Large face	6576	SLC25A1	ORPHA:98914
HP:0100729	Large face	6843	VAMP1	ORPHA:98914
HP:0100729	Large face	375790	AGRN	ORPHA:98914
HP:0100729	Large face	127833	SYT2	ORPHA:98914
HP:0100729	Large face	6572	SLC18A3	ORPHA:98914
HP:0100729	Large face	6616	SNAP25	ORPHA:98914
HP:0100729	Large face	118924	FRA10AC1	OMIM:620113
HP:0100729	Large face	113246	C12orf57	OMIM:218340
HP:0100729	Large face	55252	ASXL2	OMIM:617190
HP:0100729	Large face	54888	NSUN2	OMIM:611091
HP:0100729	Large face	7518	XRCC4	OMIM:616541
HP:0100729	Large face	5528	PPP2R5D	ORPHA:457279
HP:0100729	Large face	4781	NFIB	OMIM:618286
HP:0100729	Large face	23133	PHF8	ORPHA:85287
HP:0100729	Large face	23133	PHF8	OMIM:300263
HP:0100729	Large face	51594	NBAS	OMIM:614800
HP:0100729	Large face	25974	MMACHC	ORPHA:79282
HP:0100729	Large face	25974	MMACHC	OMIM:277400
HP:0100729	Large face	11043	MID2	OMIM:300928
HP:0100729	Large face	4621	MYH3	ORPHA:2990
HP:0100729	Large face	10210	TOPORS	ORPHA:2754
HP:0100729	Large face	9851	KIAA0753	ORPHA:2754
HP:0100729	Large face	26123	TCTN3	ORPHA:2754
HP:0100729	Large face	5147	PDE6D	ORPHA:2754
HP:0100729	Large face	8481	OFD1	ORPHA:2754
HP:0100729	Large face	317662	FAM149B1	ORPHA:2754
HP:0100729	Large face	374654	KIF7	ORPHA:2754
HP:0100729	Large face	1795	DOCK3	OMIM:618292
HP:0100729	Large face	11011	TLK2	OMIM:618050
HP:0100729	Large face	55553	SOX6	OMIM:618971
HP:0100729	Large face	1968	EIF2S3	OMIM:300148
HP:0100729	Large face	5566	PRKACA	OMIM:619142
HP:0100729	Large face	5087	PBX1	OMIM:617641
HP:0100729	Large face	2902	GRIN1	OMIM:614254
HP:0100729	Large face	5567	PRKACB	OMIM:619143
HP:0100729	Large face	4921	DDR2	OMIM:618175
HP:0100729	Large face	7043	TGFB3	OMIM:615582
HP:0100729	Large face	1140	CHRNB1	OMIM:616313
HP:0100729	Large face	25886	POC1A	OMIM:614813
HP:0100729	Large face	5052	PRDX1	OMIM:277400
HP:0100729	Large face	9990	SLC12A6	OMIM:218000
HP:0100729	Large face	9759	HDAC4	OMIM:600430
HP:0100729	Large face	5727	PTCH1	OMIM:610828
HP:0100729	Large face	5727	PTCH1	OMIM:109400
HP:0100729	Large face	79718	TBL1XR1	OMIM:602342
HP:0100729	Large face	7319	UBE2A	OMIM:300860
HP:0100729	Large face	57231	SNX14	OMIM:616354
HP:0100729	Large face	10743	RAI1	OMIM:182290
HP:0100729	Large face	221927	BRAT1	OMIM:618056
HP:0100729	Large face	5144	PDE4D	ORPHA:439822
HP:0100729	Large face	175	AGA	OMIM:208400
HP:0100729	Large face	4774	NFIA	OMIM:613735
HP:0100729	Large face	3425	IDUA	OMIM:607016
HP:0100729	Large face	2317	FLNB	OMIM:272460
HP:0100729	Large face	2316	FLNA	OMIM:304120
HP:0100729	Large face	1759	DNM1	OMIM:620352
HP:0100729	Large face	50964	SOST	OMIM:269500
HP:0100729	Large face	3265	HRAS	ORPHA:3071
HP:0100729	Large face	6023	RMRP	ORPHA:175
HP:0100729	Large face	112858	TP53RK	OMIM:617730
HP:0100729	Large face	5194	PEX13	OMIM:614883
HP:0100729	Large face	2314	FLII	ORPHA:819
HP:0100729	Large face	23096	IQSEC2	ORPHA:819
HP:0100729	Large face	10522	DEAF1	ORPHA:819
HP:0100729	Large face	9244	CRLF1	OMIM:272430
HP:0100729	Large face	9244	CRLF1	ORPHA:1545
HP:0100729	Large face	23529	CLCF1	ORPHA:1545
HP:0005775	Multiple skeletal anomalies	9401	RECQL4	ORPHA:221016
HP:0005775	Multiple skeletal anomalies	6399	TRAPPC2	ORPHA:93284
HP:0005775	Multiple skeletal anomalies	246329	STAC3	OMIM:255995
HP:0005775	Multiple skeletal anomalies	64682	ANAPC1	ORPHA:221008
HP:0010239	Aplasia of the middle phalanx of the hand	2697	GJA1	OMIM:186100
HP:0010239	Aplasia of the middle phalanx of the hand	526	ATP6V1B2	OMIM:124480
HP:0010239	Aplasia of the middle phalanx of the hand	9742	IFT140	OMIM:266920
HP:0010239	Aplasia of the middle phalanx of the hand	9896	FIG4	OMIM:216340
HP:0010239	Aplasia of the middle phalanx of the hand	50814	NSDHL	OMIM:308050
HP:0010239	Aplasia of the middle phalanx of the hand	2263	FGFR2	OMIM:149730
HP:0010239	Aplasia of the middle phalanx of the hand	1954	MEGF8	OMIM:614976
HP:0010239	Aplasia of the middle phalanx of the hand	4000	LMNA	OMIM:610140
HP:0031607	Pelvic organ prolapse	1281	COL3A1	OMIM:130050
HP:0031607	Pelvic organ prolapse	1281	COL3A1	ORPHA:286
HP:0031607	Pelvic organ prolapse	4088	SMAD3	OMIM:613795
HP:0005780	Absent fourth finger distal interphalangeal crease	11011	TLK2	OMIM:618050
HP:0005780	Absent fourth finger distal interphalangeal crease	5932	RBBP8	OMIM:251255
HP:0005781	Contractures of the large joints	9373	PLAA	ORPHA:521426
HP:0005781	Contractures of the large joints	9373	PLAA	OMIM:617527
HP:0005781	Contractures of the large joints	8818	DPM2	ORPHA:329178
HP:0005781	Contractures of the large joints	1193	CLIC2	ORPHA:324410
HP:0005781	Contractures of the large joints	5830	PEX5	OMIM:616716
HP:0100730	Bronchogenic cyst	5728	PTEN	ORPHA:2969
HP:0100730	Bronchogenic cyst	5728	PTEN	ORPHA:744
HP:0100730	Bronchogenic cyst	207	AKT1	ORPHA:744
HP:0100731	Transverse facial cleft	10992	SF3B2	OMIM:164210
HP:0100732	Pancreatic fibrosis	84314	TMEM107	ORPHA:564
HP:0100732	Pancreatic fibrosis	26123	TCTN3	ORPHA:564
HP:0100732	Pancreatic fibrosis	79867	TCTN2	ORPHA:564
HP:0100732	Pancreatic fibrosis	80776	B9D2	ORPHA:564
HP:0100732	Pancreatic fibrosis	79600	TCTN1	ORPHA:564
HP:0100732	Pancreatic fibrosis	57096	RPGRIP1	ORPHA:564
HP:0100732	Pancreatic fibrosis	79848	CSPP1	ORPHA:564
HP:0100732	Pancreatic fibrosis	80184	CEP290	ORPHA:564
HP:0100732	Pancreatic fibrosis	51259	TMEM216	ORPHA:564
HP:0100732	Pancreatic fibrosis	57545	CC2D2A	ORPHA:564
HP:0100732	Pancreatic fibrosis	79583	TMEM231	ORPHA:564
HP:0100732	Pancreatic fibrosis	91147	TMEM67	ORPHA:564
HP:0100732	Pancreatic fibrosis	79770	TXNDC15	ORPHA:564
HP:0100732	Pancreatic fibrosis	27077	B9D1	ORPHA:564
HP:0100732	Pancreatic fibrosis	23322	RPGRIP1L	ORPHA:564
HP:0100732	Pancreatic fibrosis	54903	MKS1	ORPHA:564
HP:0100732	Pancreatic fibrosis	65062	TMEM237	ORPHA:564
HP:0100732	Pancreatic fibrosis	55112	DYNC2I1	OMIM:615503
HP:0100732	Pancreatic fibrosis	51651	PTRH2	OMIM:616263
HP:0100732	Pancreatic fibrosis	2542	SLC37A4	OMIM:232220
HP:0100732	Pancreatic fibrosis	27031	NPHP3	OMIM:208540
HP:0100732	Pancreatic fibrosis	4750	NEK1	OMIM:263520
HP:0100733	Neoplasm of the parathyroid gland	201163	FLCN	ORPHA:122
HP:0100733	Neoplasm of the parathyroid gland	4763	NF1	OMIM:162200
HP:0100733	Neoplasm of the parathyroid gland	5979	RET	OMIM:171400
HP:0100733	Neoplasm of the parathyroid gland	846	CASR	OMIM:145980
HP:0100733	Neoplasm of the parathyroid gland	3458	IFNG	ORPHA:805
HP:0100733	Neoplasm of the parathyroid gland	7248	TSC1	ORPHA:805
HP:0100733	Neoplasm of the parathyroid gland	7249	TSC2	ORPHA:805
HP:0100733	Neoplasm of the parathyroid gland	1188	CLCNKB	ORPHA:358
HP:0100733	Neoplasm of the parathyroid gland	6559	SLC12A3	ORPHA:358
HP:0100733	Neoplasm of the parathyroid gland	79577	CDC73	OMIM:145001
HP:0100733	Neoplasm of the parathyroid gland	79577	CDC73	ORPHA:143
HP:0100733	Neoplasm of the parathyroid gland	79577	CDC73	OMIM:608266
HP:0100733	Neoplasm of the parathyroid gland	4221	MEN1	ORPHA:652
HP:0100733	Neoplasm of the parathyroid gland	1027	CDKN1B	ORPHA:652
HP:0100733	Neoplasm of the parathyroid gland	1027	CDKN1B	ORPHA:276152
HP:0100733	Neoplasm of the parathyroid gland	1026	CDKN1A	ORPHA:652
HP:0100733	Neoplasm of the parathyroid gland	1030	CDKN2B	ORPHA:652
HP:0100733	Neoplasm of the parathyroid gland	1031	CDKN2C	ORPHA:652
HP:0100733	Neoplasm of the parathyroid gland	9247	GCM2	OMIM:617343
HP:0100733	Neoplasm of the parathyroid gland	3418	IDH2	ORPHA:163634
HP:0100733	Neoplasm of the parathyroid gland	3417	IDH1	ORPHA:163634
HP:0100734	Abnormality of vertebral epiphysis morphology	1280	COL2A1	ORPHA:90653
HP:0100735	Hypertensive crisis	1235	CCR6	ORPHA:220393
HP:0100735	Hypertensive crisis	1490	CCN2	ORPHA:220393
HP:0100735	Hypertensive crisis	3663	IRF5	ORPHA:220393
HP:0100735	Hypertensive crisis	857	CAV1	ORPHA:220393
HP:0100735	Hypertensive crisis	3123	HLA-DRB1	ORPHA:220393
HP:0100735	Hypertensive crisis	3593	IL12B	ORPHA:3287
HP:0100735	Hypertensive crisis	3106	HLA-B	ORPHA:3287
HP:0100735	Hypertensive crisis	6945	MLX	ORPHA:3287
HP:0100735	Hypertensive crisis	1312	COMT	ORPHA:567
HP:0100735	Hypertensive crisis	221037	JMJD1C	ORPHA:567
HP:0100735	Hypertensive crisis	2812	GP1BB	ORPHA:567
HP:0100735	Hypertensive crisis	6239	RREB1	ORPHA:567
HP:0100735	Hypertensive crisis	6899	TBX1	ORPHA:567
HP:0100735	Hypertensive crisis	7290	HIRA	ORPHA:567
HP:0100735	Hypertensive crisis	9632	SEC24C	ORPHA:567
HP:0100735	Hypertensive crisis	7353	UFD1	ORPHA:567
HP:0100735	Hypertensive crisis	421	ARVCF	ORPHA:567
HP:0100735	Hypertensive crisis	51284	TLR7	OMIM:301080
HP:0100735	Hypertensive crisis	389827	MYMK	ORPHA:1358
HP:0100735	Hypertensive crisis	101929726	MYMX	ORPHA:1358
HP:0100736	Abnormal soft palate morphology	710	SERPING1	ORPHA:100050
HP:0100736	Abnormal soft palate morphology	10195	ALG3	ORPHA:79321
HP:0100736	Abnormal soft palate morphology	9968	MED12	OMIM:301068
HP:0100736	Abnormal soft palate morphology	699	BUB1	OMIM:620183
HP:0100736	Abnormal soft palate morphology	4488	MSX2	OMIM:604757
HP:0100736	Abnormal soft palate morphology	8367	H4C5	OMIM:619950
HP:0100736	Abnormal soft palate morphology	6628	SNRPB	OMIM:117650
HP:0100736	Abnormal soft palate morphology	1859	DYRK1A	ORPHA:268261
HP:0100736	Abnormal soft palate morphology	6949	TCOF1	OMIM:154500
HP:0100736	Abnormal soft palate morphology	64359	NXN	OMIM:618529
HP:0100736	Abnormal soft palate morphology	79005	SCNM1	OMIM:620107
HP:0100736	Abnormal soft palate morphology	6135	RPL11	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6138	RPL15	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6229	RPS24	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6204	RPS10	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6224	RPS20	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6165	RPL35A	ORPHA:124
HP:0100736	Abnormal soft palate morphology	2623	GATA1	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6223	RPS19	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6232	RPS27	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6231	RPS26	ORPHA:124
HP:0100736	Abnormal soft palate morphology	11224	RPL35	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6160	RPL31	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6218	RPS17	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6201	RPS7	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6155	RPL27	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6154	RPL26	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6210	RPS15A	ORPHA:124
HP:0100736	Abnormal soft palate morphology	90121	TSR2	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6141	RPL18	ORPHA:124
HP:0100736	Abnormal soft palate morphology	6235	RPS29	ORPHA:124
HP:0100736	Abnormal soft palate morphology	51816	ADA2	ORPHA:124
HP:0100736	Abnormal soft palate morphology	1855	DVL1	OMIM:616331
HP:0100736	Abnormal soft palate morphology	8882	ZPR1	OMIM:619321
HP:0100736	Abnormal soft palate morphology	2783	GNB2	OMIM:619503
HP:0100736	Abnormal soft palate morphology	55033	FKBP14	OMIM:614557
HP:0100736	Abnormal soft palate morphology	60386	SLC25A19	ORPHA:99742
HP:0100736	Abnormal soft palate morphology	3476	IGBP1	OMIM:300472
HP:0100736	Abnormal soft palate morphology	9949	AMMECR1	OMIM:300990
HP:0100736	Abnormal soft palate morphology	2737	GLI3	ORPHA:672
HP:0100736	Abnormal soft palate morphology	4088	SMAD3	ORPHA:284984
HP:0100736	Abnormal soft palate morphology	4088	SMAD3	OMIM:613795
HP:0100736	Abnormal soft palate morphology	274	BIN1	ORPHA:169186
HP:0100736	Abnormal soft palate morphology	10290	SPEG	ORPHA:169186
HP:0100736	Abnormal soft palate morphology	10290	SPEG	OMIM:615959
HP:0100736	Abnormal soft palate morphology	6261	RYR1	ORPHA:169186
HP:0100736	Abnormal soft palate morphology	7273	TTN	ORPHA:169186
HP:0100736	Abnormal soft palate morphology	85465	SELENOI	ORPHA:506353
HP:0100736	Abnormal soft palate morphology	85465	SELENOI	OMIM:618768
HP:0100736	Abnormal soft palate morphology	2138	EYA1	OMIM:113650
HP:0100736	Abnormal soft palate morphology	6495	SIX1	OMIM:113650
HP:0100736	Abnormal soft palate morphology	23135	KDM6B	OMIM:618505
HP:0100736	Abnormal soft palate morphology	6228	RPS23	OMIM:617412
HP:0100736	Abnormal soft palate morphology	6885	MAP3K7	OMIM:617137
HP:0100736	Abnormal soft palate morphology	6885	MAP3K7	ORPHA:1826
HP:0100736	Abnormal soft palate morphology	55627	SMPD4	OMIM:618622
HP:0100736	Abnormal soft palate morphology	55209	SETD5	ORPHA:404440
HP:0100736	Abnormal soft palate morphology	3190	HNRNPK	ORPHA:453504
HP:0100736	Abnormal soft palate morphology	3190	HNRNPK	OMIM:616580
HP:0100736	Abnormal soft palate morphology	3190	HNRNPK	ORPHA:352665
HP:0100736	Abnormal soft palate morphology	1301	COL11A1	OMIM:604841
HP:0100736	Abnormal soft palate morphology	1301	COL11A1	OMIM:154780
HP:0100736	Abnormal soft palate morphology	23498	HAAO	OMIM:617660
HP:0100736	Abnormal soft palate morphology	374654	KIF7	OMIM:200990
HP:0100736	Abnormal soft palate morphology	374654	KIF7	ORPHA:2189
HP:0100736	Abnormal soft palate morphology	83479	DDX59	OMIM:174300
HP:0100736	Abnormal soft palate morphology	83479	DDX59	ORPHA:2919
HP:0100736	Abnormal soft palate morphology	80055	PGAP1	OMIM:615802
HP:0100736	Abnormal soft palate morphology	84892	POMGNT2	ORPHA:899
HP:0100736	Abnormal soft palate morphology	148789	B3GALNT2	ORPHA:899
HP:0100736	Abnormal soft palate morphology	79147	FKRP	ORPHA:899
HP:0100736	Abnormal soft palate morphology	29954	POMT2	ORPHA:899
HP:0100736	Abnormal soft palate morphology	9215	LARGE1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	1282	COL4A1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	729920	CRPPA	ORPHA:899
HP:0100736	Abnormal soft palate morphology	10329	RXYLT1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	1605	DAG1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	11041	B4GAT1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	10585	POMT1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	84197	POMK	ORPHA:899
HP:0100736	Abnormal soft palate morphology	2218	FKTN	ORPHA:899
HP:0100736	Abnormal soft palate morphology	55624	POMGNT1	ORPHA:899
HP:0100736	Abnormal soft palate morphology	79068	FTO	OMIM:612938
HP:0100736	Abnormal soft palate morphology	1741	DLG3	OMIM:300850
HP:0100736	Abnormal soft palate morphology	2263	FGFR2	ORPHA:87
HP:0100736	Abnormal soft palate morphology	2263	FGFR2	OMIM:123790
HP:0100736	Abnormal soft palate morphology	2263	FGFR2	ORPHA:2363
HP:0100736	Abnormal soft palate morphology	2263	FGFR2	OMIM:101200
HP:0100736	Abnormal soft palate morphology	10735	STAG2	OMIM:301022
HP:0100736	Abnormal soft palate morphology	10735	STAG2	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	10735	STAG2	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	84992	PIGY	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	84720	PIGO	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	93210	PGAP3	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	284098	PIGW	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	27315	PGAP2	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	55650	PIGV	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	9487	PIGL	ORPHA:247262
HP:0100736	Abnormal soft palate morphology	80204	FBXO11	OMIM:618089
HP:0100736	Abnormal soft palate morphology	1108	CHD4	OMIM:617159
HP:0100736	Abnormal soft palate morphology	64131	XYLT1	OMIM:615777
HP:0100736	Abnormal soft palate morphology	81620	CDT1	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	5000	ORC4	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	23594	ORC6	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	8318	CDC45	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	990	CDC6	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	4998	ORC1	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	51053	GMNN	ORPHA:2554
HP:0100736	Abnormal soft palate morphology	1009	CDH11	OMIM:211380
HP:0100736	Abnormal soft palate morphology	1009	CDH11	ORPHA:1299
HP:0100736	Abnormal soft palate morphology	444	ASPH	OMIM:601552
HP:0100736	Abnormal soft palate morphology	6469	SHH	OMIM:142945
HP:0100736	Abnormal soft palate morphology	6469	SHH	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	6469	SHH	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	6469	SHH	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	6469	SHH	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	1717	DHCR7	OMIM:270400
HP:0100736	Abnormal soft palate morphology	9401	RECQL4	OMIM:218600
HP:0100736	Abnormal soft palate morphology	5422	POLA1	OMIM:301030
HP:0100736	Abnormal soft palate morphology	9839	ZEB2	ORPHA:261552
HP:0100736	Abnormal soft palate morphology	9839	ZEB2	ORPHA:261537
HP:0100736	Abnormal soft palate morphology	10484	SEC23A	OMIM:607812
HP:0100736	Abnormal soft palate morphology	633	BGN	OMIM:300989
HP:0100736	Abnormal soft palate morphology	80776	B9D2	OMIM:614175
HP:0100736	Abnormal soft palate morphology	28514	DLL1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	28514	DLL1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	28514	DLL1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	28514	DLL1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	2253	FGF8	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	2253	FGF8	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	2253	FGF8	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	2253	FGF8	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	6496	SIX3	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	6496	SIX3	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	6496	SIX3	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	6496	SIX3	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	6496	SIX3	OMIM:157170
HP:0100736	Abnormal soft palate morphology	7050	TGIF1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	7050	TGIF1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	7050	TGIF1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	7050	TGIF1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	4838	NODAL	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	4838	NODAL	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	4838	NODAL	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	4838	NODAL	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	7546	ZIC2	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	7546	ZIC2	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	7546	ZIC2	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	7546	ZIC2	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	6491	STIL	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	6491	STIL	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	6491	STIL	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	6491	STIL	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	2619	GAS1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	2619	GAS1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	2619	GAS1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	2619	GAS1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	84976	DISP1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	84976	DISP1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	84976	DISP1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	84976	DISP1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	2736	GLI2	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	2736	GLI2	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	2736	GLI2	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	2736	GLI2	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	8928	FOXH1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	8928	FOXH1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	8928	FOXH1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	8928	FOXH1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	5727	PTCH1	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	5727	PTCH1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	5727	PTCH1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	5727	PTCH1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	50937	CDON	ORPHA:93926
HP:0100736	Abnormal soft palate morphology	50937	CDON	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	50937	CDON	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	50937	CDON	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	2260	FGFR1	ORPHA:93924
HP:0100736	Abnormal soft palate morphology	2260	FGFR1	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	124512	METTL23	OMIM:615942
HP:0100736	Abnormal soft palate morphology	23007	PLCH1	ORPHA:93925
HP:0100736	Abnormal soft palate morphology	1906	EDN1	ORPHA:137888
HP:0100736	Abnormal soft palate morphology	1906	EDN1	OMIM:615706
HP:0100736	Abnormal soft palate morphology	5332	PLCB4	ORPHA:137888
HP:0100736	Abnormal soft palate morphology	2773	GNAI3	ORPHA:137888
HP:0100736	Abnormal soft palate morphology	6602	SMARCD1	OMIM:618779
HP:0100736	Abnormal soft palate morphology	3782	KCNN3	OMIM:618658
HP:0100736	Abnormal soft palate morphology	3782	KCNN3	ORPHA:3473
HP:0100736	Abnormal soft palate morphology	139285	AMER1	ORPHA:2780
HP:0100736	Abnormal soft palate morphology	139285	AMER1	OMIM:300373
HP:0100736	Abnormal soft palate morphology	1280	COL2A1	OMIM:183900
HP:0100736	Abnormal soft palate morphology	1280	COL2A1	OMIM:108300
HP:0100736	Abnormal soft palate morphology	6638	SNRPN	ORPHA:177907
HP:0100736	Abnormal soft palate morphology	526	ATP6V1B2	ORPHA:3473
HP:0100736	Abnormal soft palate morphology	3756	KCNH1	ORPHA:3473
HP:0100736	Abnormal soft palate morphology	6234	RPS28	OMIM:606164
HP:0100736	Abnormal soft palate morphology	11285	B4GALT7	OMIM:130070
HP:0100736	Abnormal soft palate morphology	23347	SMCHD1	ORPHA:2250
HP:0100736	Abnormal soft palate morphology	6905	TBCE	OMIM:241410
HP:0100736	Abnormal soft palate morphology	63895	PIEZO2	OMIM:114300
HP:0100736	Abnormal soft palate morphology	63895	PIEZO2	ORPHA:2461
HP:0100736	Abnormal soft palate morphology	29895	MYL11	OMIM:619110
HP:0100736	Abnormal soft palate morphology	23126	POGZ	OMIM:616364
HP:0100736	Abnormal soft palate morphology	6125	RPL5	OMIM:612561
HP:0100736	Abnormal soft palate morphology	9791	PTDSS1	ORPHA:2658
HP:0100736	Abnormal soft palate morphology	8452	CUL3	OMIM:619239
HP:0100736	Abnormal soft palate morphology	8085	KMT2D	OMIM:620186
HP:0100736	Abnormal soft palate morphology	10907	TXNL4A	OMIM:608572
HP:0100736	Abnormal soft palate morphology	388015	RTL1	ORPHA:96184
HP:0100736	Abnormal soft palate morphology	8788	DLK1	ORPHA:96184
HP:0100736	Abnormal soft palate morphology	55384	MEG3	ORPHA:96184
HP:0100736	Abnormal soft palate morphology	11198	SUPT16H	OMIM:619480
HP:0100736	Abnormal soft palate morphology	79796	ALG9	ORPHA:79328
HP:0100736	Abnormal soft palate morphology	284252	KCTD1	OMIM:181270
HP:0100736	Abnormal soft palate morphology	54880	BCOR	OMIM:300166
HP:0100736	Abnormal soft palate morphology	1718	DHCR24	ORPHA:35107
HP:0100736	Abnormal soft palate morphology	8239	USP9X	OMIM:300968
HP:0100736	Abnormal soft palate morphology	6472	SHMT2	OMIM:619121
HP:0100736	Abnormal soft palate morphology	9928	KIF14	OMIM:616258
HP:0100736	Abnormal soft palate morphology	1654	DDX3X	OMIM:300958
HP:0100736	Abnormal soft palate morphology	5500	PPP1CB	OMIM:617506
HP:0100736	Abnormal soft palate morphology	2261	FGFR3	ORPHA:2363
HP:0100736	Abnormal soft palate morphology	2255	FGF10	ORPHA:2363
HP:0100736	Abnormal soft palate morphology	3373	HYAL1	OMIM:601492
HP:0100736	Abnormal soft palate morphology	50945	TBX22	OMIM:303400
HP:0100736	Abnormal soft palate morphology	23314	SATB2	ORPHA:576283
HP:0100736	Abnormal soft palate morphology	81031	SLC2A10	OMIM:208050
HP:0100736	Abnormal soft palate morphology	23483	TGDS	OMIM:616145
HP:0100736	Abnormal soft palate morphology	9652	SKIC3	OMIM:222470
HP:0100736	Abnormal soft palate morphology	8243	SMC1A	ORPHA:220386
HP:0100736	Abnormal soft palate morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0100736	Abnormal soft palate morphology	6611	SMS	OMIM:309583
HP:0100736	Abnormal soft palate morphology	5236	PGM1	OMIM:614921
HP:0100736	Abnormal soft palate morphology	7048	TGFBR2	OMIM:610168
HP:0100736	Abnormal soft palate morphology	7048	TGFBR2	ORPHA:60030
HP:0100736	Abnormal soft palate morphology	2316	FLNA	ORPHA:1826
HP:0100736	Abnormal soft palate morphology	23522	KAT6B	ORPHA:3047
HP:0100736	Abnormal soft palate morphology	1302	COL11A2	ORPHA:1427
HP:0100736	Abnormal soft palate morphology	79583	TMEM231	ORPHA:2752
HP:0100736	Abnormal soft palate morphology	26123	TCTN3	ORPHA:2753
HP:0100736	Abnormal soft palate morphology	9742	IFT140	OMIM:266920
HP:0100736	Abnormal soft palate morphology	9775	EIF4A3	OMIM:268305
HP:0100736	Abnormal soft palate morphology	7043	TGFB3	OMIM:615582
HP:0100736	Abnormal soft palate morphology	91252	SLC39A13	OMIM:612350
HP:0100736	Abnormal soft palate morphology	2702	GJA5	OMIM:612474
HP:0100736	Abnormal soft palate morphology	2703	GJA8	OMIM:612474
HP:0100736	Abnormal soft palate morphology	7046	TGFBR1	ORPHA:60030
HP:0100736	Abnormal soft palate morphology	7046	TGFBR1	OMIM:609192
HP:0100736	Abnormal soft palate morphology	219844	HYLS1	ORPHA:2189
HP:0100736	Abnormal soft palate morphology	58508	KMT2C	OMIM:617768
HP:0100736	Abnormal soft palate morphology	4089	SMAD4	ORPHA:2588
HP:0100736	Abnormal soft palate morphology	4487	MSX1	ORPHA:199302
HP:0100736	Abnormal soft palate morphology	4487	MSX1	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	5818	NECTIN1	ORPHA:199302
HP:0100736	Abnormal soft palate morphology	5818	NECTIN1	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	8626	TP63	ORPHA:199302
HP:0100736	Abnormal soft palate morphology	8626	TP63	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	8626	TP63	OMIM:129400
HP:0100736	Abnormal soft palate morphology	3664	IRF6	ORPHA:199302
HP:0100736	Abnormal soft palate morphology	3664	IRF6	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	7314	UBB	ORPHA:99772
HP:0100736	Abnormal soft palate morphology	57822	GRHL3	ORPHA:99772
HP:0100736	Abnormal soft palate morphology	79228	THOC6	ORPHA:363444
HP:0100736	Abnormal soft palate morphology	79228	THOC6	OMIM:613680
HP:0100736	Abnormal soft palate morphology	10262	SF3B4	OMIM:154400
HP:0100736	Abnormal soft palate morphology	51132	RLIM	OMIM:300978
HP:0100736	Abnormal soft palate morphology	6477	SIAH1	OMIM:619314
HP:0100736	Abnormal soft palate morphology	29998	BICRA	OMIM:619325
HP:0100736	Abnormal soft palate morphology	101929726	MYMX	OMIM:619941
HP:0100736	Abnormal soft palate morphology	1739	DLG1	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	652	BMP4	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	999	CDH1	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	5156	PDGFRA	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	9411	ARHGAP29	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	1748	DLX4	ORPHA:199306
HP:0100736	Abnormal soft palate morphology	10743	RAI1	OMIM:182290
HP:0100736	Abnormal soft palate morphology	84617	TUBB6	OMIM:617732
HP:0100736	Abnormal soft palate morphology	117581	TWIST2	OMIM:209885
HP:0100736	Abnormal soft palate morphology	5885	RAD21	OMIM:614701
HP:0100736	Abnormal soft palate morphology	7291	TWIST1	OMIM:617746
HP:0100736	Abnormal soft palate morphology	9993	DGCR2	OMIM:192430
HP:0100736	Abnormal soft palate morphology	8220	ESS2	OMIM:192430
HP:0100736	Abnormal soft palate morphology	8214	DGCR6	OMIM:192430
HP:0100736	Abnormal soft palate morphology	54487	DGCR8	OMIM:192430
HP:0100736	Abnormal soft palate morphology	6899	TBX1	OMIM:192430
HP:0100736	Abnormal soft palate morphology	4750	NEK1	ORPHA:2751
HP:0100736	Abnormal soft palate morphology	4920	ROR2	OMIM:268310
HP:0100736	Abnormal soft palate morphology	5297	PI4KA	OMIM:616531
HP:0100736	Abnormal soft palate morphology	5297	PI4KA	OMIM:619708
HP:0100736	Abnormal soft palate morphology	672	BRCA1	ORPHA:84
HP:0100736	Abnormal soft palate morphology	10459	MAD2L2	ORPHA:84
HP:0100736	Abnormal soft palate morphology	7516	XRCC2	ORPHA:84
HP:0100736	Abnormal soft palate morphology	29089	UBE2T	ORPHA:84
HP:0100736	Abnormal soft palate morphology	675	BRCA2	ORPHA:84
HP:0100736	Abnormal soft palate morphology	55120	FANCL	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2177	FANCD2	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2175	FANCA	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2187	FANCB	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2176	FANCC	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2178	FANCE	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2188	FANCF	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2189	FANCG	ORPHA:84
HP:0100736	Abnormal soft palate morphology	5888	RAD51	ORPHA:84
HP:0100736	Abnormal soft palate morphology	5889	RAD51C	ORPHA:84
HP:0100736	Abnormal soft palate morphology	55159	RFWD3	ORPHA:84
HP:0100736	Abnormal soft palate morphology	83990	BRIP1	ORPHA:84
HP:0100736	Abnormal soft palate morphology	57697	FANCM	ORPHA:84
HP:0100736	Abnormal soft palate morphology	79728	PALB2	ORPHA:84
HP:0100736	Abnormal soft palate morphology	84464	SLX4	ORPHA:84
HP:0100736	Abnormal soft palate morphology	2072	ERCC4	ORPHA:84
HP:0100736	Abnormal soft palate morphology	55215	FANCI	ORPHA:84
HP:0100736	Abnormal soft palate morphology	7042	TGFB2	OMIM:614816
HP:0100736	Abnormal soft palate morphology	165	AEBP1	ORPHA:536532
HP:0100736	Abnormal soft palate morphology	57479	PRR12	OMIM:619539
HP:0100736	Abnormal soft palate morphology	57539	WDR35	OMIM:614091
HP:0100736	Abnormal soft palate morphology	6711	SPTBN1	OMIM:619475
HP:0100736	Abnormal soft palate morphology	51305	KCNK9	OMIM:612292
HP:0100736	Abnormal soft palate morphology	4841	NONO	OMIM:300967
HP:0100736	Abnormal soft palate morphology	246329	STAC3	ORPHA:168572
HP:0100736	Abnormal soft palate morphology	11128	POLR3A	ORPHA:3455
HP:0100736	Abnormal soft palate morphology	10526	IPO8	OMIM:619472
HP:0100736	Abnormal soft palate morphology	6651	SON	ORPHA:500150
HP:0100736	Abnormal soft palate morphology	55636	CHD7	ORPHA:138
HP:0100736	Abnormal soft palate morphology	9723	SEMA3E	ORPHA:138
HP:0100737	Abnormal hard palate morphology	2736	GLI2	OMIM:610829
HP:0100737	Abnormal hard palate morphology	6628	SNRPB	ORPHA:1393
HP:0100737	Abnormal hard palate morphology	6628	SNRPB	OMIM:117650
HP:0100737	Abnormal hard palate morphology	7474	WNT5A	OMIM:180700
HP:0100737	Abnormal hard palate morphology	1855	DVL1	OMIM:180700
HP:0100737	Abnormal hard palate morphology	5573	PRKAR1A	ORPHA:1359
HP:0100737	Abnormal hard palate morphology	50940	PDE11A	ORPHA:1359
HP:0100737	Abnormal hard palate morphology	57479	PRR12	OMIM:619539
HP:0100737	Abnormal hard palate morphology	4041	LRP5	OMIM:607634
HP:0100737	Abnormal hard palate morphology	4041	LRP5	ORPHA:2790
HP:0100737	Abnormal hard palate morphology	4041	LRP5	OMIM:144750
HP:0100737	Abnormal hard palate morphology	6469	SHH	OMIM:147250
HP:0100737	Abnormal hard palate morphology	26137	ZBTB20	OMIM:259050
HP:0100737	Abnormal hard palate morphology	9949	AMMECR1	OMIM:300990
HP:0100737	Abnormal hard palate morphology	9839	ZEB2	ORPHA:261537
HP:0100737	Abnormal hard palate morphology	9839	ZEB2	ORPHA:261552
HP:0100737	Abnormal hard palate morphology	8626	TP63	ORPHA:69085
HP:0100738	Abnormal eating behavior	7840	ALMS1	ORPHA:64
HP:0100738	Abnormal eating behavior	11253	MAN1B1	ORPHA:397941
HP:0100738	Abnormal eating behavior	23394	ADNP	ORPHA:404448
HP:0100738	Abnormal eating behavior	23394	ADNP	OMIM:615873
HP:0100738	Abnormal eating behavior	6492	SIM1	ORPHA:369873
HP:0100738	Abnormal eating behavior	6492	SIM1	ORPHA:171829
HP:0100738	Abnormal eating behavior	6492	SIM1	ORPHA:398079
HP:0100738	Abnormal eating behavior	26580	BSCL2	OMIM:269700
HP:0100738	Abnormal eating behavior	4137	MAPT	OMIM:172700
HP:0100738	Abnormal eating behavior	4137	MAPT	OMIM:600274
HP:0100738	Abnormal eating behavior	5663	PSEN1	OMIM:172700
HP:0100738	Abnormal eating behavior	5663	PSEN1	OMIM:600274
HP:0100738	Abnormal eating behavior	5122	PCSK1	ORPHA:71528
HP:0100738	Abnormal eating behavior	4160	MC4R	ORPHA:71529
HP:0100738	Abnormal eating behavior	4160	MC4R	OMIM:618406
HP:0100738	Abnormal eating behavior	23040	MYT1L	OMIM:616521
HP:0100738	Abnormal eating behavior	23314	SATB2	ORPHA:251028
HP:0100738	Abnormal eating behavior	5443	POMC	ORPHA:71526
HP:0100738	Abnormal eating behavior	5443	POMC	OMIM:609734
HP:0100738	Abnormal eating behavior	55777	MBD5	ORPHA:228402
HP:0100738	Abnormal eating behavior	55777	MBD5	OMIM:156200
HP:0100738	Abnormal eating behavior	5590	PRKCZ	ORPHA:1606
HP:0100738	Abnormal eating behavior	2563	GABRD	ORPHA:1606
HP:0100738	Abnormal eating behavior	23013	SPEN	ORPHA:1606
HP:0100738	Abnormal eating behavior	8510	MMP23B	ORPHA:1606
HP:0100738	Abnormal eating behavior	7798	LUZP1	ORPHA:1606
HP:0100738	Abnormal eating behavior	6497	SKI	ORPHA:1606
HP:0100738	Abnormal eating behavior	10630	PDPN	ORPHA:1606
HP:0100738	Abnormal eating behavior	3339	HSPG2	ORPHA:1606
HP:0100738	Abnormal eating behavior	10277	UBE4B	ORPHA:1606
HP:0100738	Abnormal eating behavior	8514	KCNAB2	ORPHA:1606
HP:0100738	Abnormal eating behavior	473	RERE	ORPHA:1606
HP:0100738	Abnormal eating behavior	63976	PRDM16	ORPHA:1606
HP:0100738	Abnormal eating behavior	54897	CASZ1	ORPHA:1606
HP:0100738	Abnormal eating behavior	4221	MEN1	ORPHA:97279
HP:0100738	Abnormal eating behavior	7528	YY1	ORPHA:97279
HP:0100738	Abnormal eating behavior	7681	MKRN3	OMIM:176270
HP:0100738	Abnormal eating behavior	3653	IPW	OMIM:176270
HP:0100738	Abnormal eating behavior	54551	MAGEL2	OMIM:176270
HP:0100738	Abnormal eating behavior	54551	MAGEL2	ORPHA:98754
HP:0100738	Abnormal eating behavior	54551	MAGEL2	ORPHA:177904
HP:0100738	Abnormal eating behavior	54551	MAGEL2	ORPHA:177901
HP:0100738	Abnormal eating behavior	54551	MAGEL2	ORPHA:398069
HP:0100738	Abnormal eating behavior	54551	MAGEL2	ORPHA:177910
HP:0100738	Abnormal eating behavior	54551	MAGEL2	OMIM:615547
HP:0100738	Abnormal eating behavior	791114	PWRN1	OMIM:176270
HP:0100738	Abnormal eating behavior	100033413	SNORD116-1	OMIM:176270
HP:0100738	Abnormal eating behavior	8924	HERC2	OMIM:176270
HP:0100738	Abnormal eating behavior	145624	PWAR1	OMIM:176270
HP:0100738	Abnormal eating behavior	23742	NPAP1	OMIM:176270
HP:0100738	Abnormal eating behavior	338433	SNORD115-1	OMIM:176270
HP:0100738	Abnormal eating behavior	2896	GRN	OMIM:607485
HP:0100738	Abnormal eating behavior	25970	SH2B1	ORPHA:329249
HP:0100738	Abnormal eating behavior	3952	LEP	ORPHA:66628
HP:0100738	Abnormal eating behavior	3952	LEP	OMIM:614962
HP:0100738	Abnormal eating behavior	6519	SLC3A1	ORPHA:163690
HP:0100738	Abnormal eating behavior	9581	PREPL	ORPHA:163690
HP:0100738	Abnormal eating behavior	6833	ABCC8	ORPHA:276575
HP:0100738	Abnormal eating behavior	6638	SNRPN	ORPHA:98754
HP:0100738	Abnormal eating behavior	6638	SNRPN	ORPHA:177904
HP:0100738	Abnormal eating behavior	6638	SNRPN	ORPHA:177901
HP:0100738	Abnormal eating behavior	6638	SNRPN	ORPHA:177910
HP:0100738	Abnormal eating behavior	6638	SNRPN	ORPHA:411515
HP:0100738	Abnormal eating behavior	4692	NDN	ORPHA:98754
HP:0100738	Abnormal eating behavior	4692	NDN	ORPHA:177904
HP:0100738	Abnormal eating behavior	4692	NDN	ORPHA:177901
HP:0100738	Abnormal eating behavior	4692	NDN	ORPHA:177910
HP:0100738	Abnormal eating behavior	4948	OCA2	ORPHA:98754
HP:0100738	Abnormal eating behavior	4948	OCA2	ORPHA:177904
HP:0100738	Abnormal eating behavior	4948	OCA2	ORPHA:177901
HP:0100738	Abnormal eating behavior	3767	KCNJ11	ORPHA:276580
HP:0100738	Abnormal eating behavior	2146	EZH2	OMIM:277590
HP:0100738	Abnormal eating behavior	3953	LEPR	OMIM:614963
HP:0100738	Abnormal eating behavior	3953	LEPR	ORPHA:179494
HP:0100738	Abnormal eating behavior	80173	IFT74	OMIM:617119
HP:0100738	Abnormal eating behavior	2778	GNAS	ORPHA:79443
HP:0100738	Abnormal eating behavior	2778	GNAS	ORPHA:79444
HP:0100738	Abnormal eating behavior	506	ATP5F1B	OMIM:620085
HP:0100738	Abnormal eating behavior	10555	AGPAT2	OMIM:608594
HP:0100738	Abnormal eating behavior	6927	HNF1A	ORPHA:324575
HP:0100738	Abnormal eating behavior	6927	HNF1A	OMIM:222100
HP:0100738	Abnormal eating behavior	26191	PTPN22	OMIM:222100
HP:0100738	Abnormal eating behavior	3710	ITPR3	OMIM:222100
HP:0100738	Abnormal eating behavior	3569	IL6	OMIM:222100
HP:0100738	Abnormal eating behavior	4330	MN1	OMIM:618774
HP:0100738	Abnormal eating behavior	83550	GPR101	OMIM:300942
HP:0100738	Abnormal eating behavior	29072	SETD2	OMIM:616831
HP:0100738	Abnormal eating behavior	109	ADCY3	OMIM:617885
HP:0100738	Abnormal eating behavior	4915	NTRK2	OMIM:613886
HP:0100738	Abnormal eating behavior	27241	BBS9	OMIM:615986
HP:0100738	Abnormal eating behavior	7351	UCP2	ORPHA:276556
HP:0100738	Abnormal eating behavior	7337	UBE3A	ORPHA:411515
HP:0100738	Abnormal eating behavior	57194	ATP10A	ORPHA:411515
HP:0100738	Abnormal eating behavior	6524	SLC5A2	OMIM:233100
HP:0100738	Abnormal eating behavior	1499	CTNNB1	ORPHA:54595
HP:0100738	Abnormal eating behavior	673	BRAF	ORPHA:54595
HP:0100738	Abnormal eating behavior	57688	ZSWIM6	OMIM:617865
HP:0100738	Abnormal eating behavior	283209	PGM2L1	OMIM:620191
HP:0100738	Abnormal eating behavior	1725	DHPS	OMIM:618480
HP:0100738	Abnormal eating behavior	55250	ELP2	OMIM:617270
HP:0100738	Abnormal eating behavior	8621	CDK13	OMIM:617360
HP:0100738	Abnormal eating behavior	55870	ASH1L	OMIM:617796
HP:0100738	Abnormal eating behavior	57680	CHD8	OMIM:615032
HP:0100738	Abnormal eating behavior	38	ACAT1	ORPHA:134
HP:0100738	Abnormal eating behavior	6597	SMARCA4	ORPHA:1465
HP:0100738	Abnormal eating behavior	6598	SMARCB1	ORPHA:1465
HP:0100738	Abnormal eating behavior	6659	SOX4	ORPHA:1465
HP:0100738	Abnormal eating behavior	8289	ARID1A	ORPHA:1465
HP:0100738	Abnormal eating behavior	5977	DPF2	ORPHA:1465
HP:0100738	Abnormal eating behavior	6601	SMARCC2	ORPHA:1465
HP:0100738	Abnormal eating behavior	6602	SMARCD1	ORPHA:1465
HP:0100738	Abnormal eating behavior	57492	ARID1B	ORPHA:1465
HP:0100738	Abnormal eating behavior	196528	ARID2	ORPHA:1465
HP:0100738	Abnormal eating behavior	6605	SMARCE1	ORPHA:1465
HP:0100738	Abnormal eating behavior	6664	SOX11	ORPHA:1465
HP:0100738	Abnormal eating behavior	2887	GRB10	ORPHA:96182
HP:0100738	Abnormal eating behavior	55690	PACS1	ORPHA:329224
HP:0100738	Abnormal eating behavior	9056	SLC7A7	ORPHA:470
HP:0100738	Abnormal eating behavior	4212	MEIS2	OMIM:600987
HP:0100738	Abnormal eating behavior	3766	KCNJ10	ORPHA:199343
HP:0100738	Abnormal eating behavior	3766	KCNJ10	OMIM:612780
HP:0100738	Abnormal eating behavior	6559	SLC12A3	OMIM:263800
HP:0100738	Abnormal eating behavior	6559	SLC12A3	ORPHA:358
HP:0100738	Abnormal eating behavior	1188	CLCNKB	ORPHA:358
HP:0100738	Abnormal eating behavior	3064	HTT	ORPHA:399
HP:0100738	Abnormal eating behavior	6515	SLC2A3	ORPHA:399
HP:0100738	Abnormal eating behavior	60482	SLC5A7	ORPHA:98914
HP:0100738	Abnormal eating behavior	4649	MYO9A	ORPHA:98914
HP:0100738	Abnormal eating behavior	1305	COL13A1	ORPHA:98914
HP:0100738	Abnormal eating behavior	1103	CHAT	ORPHA:98914
HP:0100738	Abnormal eating behavior	6576	SLC25A1	ORPHA:98914
HP:0100738	Abnormal eating behavior	6843	VAMP1	ORPHA:98914
HP:0100738	Abnormal eating behavior	375790	AGRN	ORPHA:98914
HP:0100738	Abnormal eating behavior	127833	SYT2	ORPHA:98914
HP:0100738	Abnormal eating behavior	6572	SLC18A3	ORPHA:98914
HP:0100738	Abnormal eating behavior	6616	SNAP25	ORPHA:98914
HP:0100738	Abnormal eating behavior	374879	ZNF699	OMIM:619488
HP:0100738	Abnormal eating behavior	8398	PLA2G6	ORPHA:35069
HP:0100738	Abnormal eating behavior	773	CACNA1A	ORPHA:98758
HP:0100738	Abnormal eating behavior	1759	DNM1	OMIM:620352
HP:0100738	Abnormal eating behavior	6329	SCN4A	ORPHA:99734
HP:0100738	Abnormal eating behavior	57526	PCDH19	ORPHA:101039
HP:0100738	Abnormal eating behavior	10165	SLC25A13	ORPHA:247585
HP:0100738	Abnormal eating behavior	51574	LARP7	ORPHA:319671
HP:0100738	Abnormal eating behavior	7080	NKX2-1	ORPHA:209905
HP:0100738	Abnormal eating behavior	1806	DPYD	ORPHA:293948
HP:0100738	Abnormal eating behavior	8831	SYNGAP1	ORPHA:544254
HP:0100738	Abnormal eating behavior	23590	PDSS1	OMIM:614651
HP:0100738	Abnormal eating behavior	340533	NEXMIF	OMIM:300912
HP:0100739	Bulimia	23590	PDSS1	OMIM:614651
HP:0100739	Bulimia	6638	SNRPN	ORPHA:177904
HP:0100739	Bulimia	6638	SNRPN	ORPHA:177901
HP:0100739	Bulimia	6638	SNRPN	ORPHA:98754
HP:0100739	Bulimia	4692	NDN	ORPHA:177904
HP:0100739	Bulimia	4692	NDN	ORPHA:177901
HP:0100739	Bulimia	4692	NDN	ORPHA:98754
HP:0100739	Bulimia	54551	MAGEL2	ORPHA:177904
HP:0100739	Bulimia	54551	MAGEL2	ORPHA:177901
HP:0100739	Bulimia	54551	MAGEL2	ORPHA:98754
HP:0100739	Bulimia	4948	OCA2	ORPHA:177904
HP:0100739	Bulimia	4948	OCA2	ORPHA:177901
HP:0100739	Bulimia	4948	OCA2	ORPHA:98754
HP:0100739	Bulimia	340533	NEXMIF	OMIM:300912
HP:0011203	EEG with abnormally slow frequencies	3737	KCNA2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	1759	DNM1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	8120	AP3B2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	523	ATP6V1A	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	10991	SLC38A3	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	51343	FZR1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	22906	TRAK1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2566	GABRG2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	1917	EEF1A2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2561	GABRB2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	7532	YWHAG	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	79876	UBA5	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	6328	SCN3A	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2558	GABRA5	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	781	CACNA2D1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2906	GRIN2D	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	116150	NUS1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	10659	CELF2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	774	CACNA1B	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	1213	CLTC	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	51741	WWOX	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	23334	SZT2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	51412	ACTL6B	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	348980	HCN1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	6506	SLC1A2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	8867	SYNJ1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2258	FGF13	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	477	ATP1A2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	3745	KCNB1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	284111	SLC13A5	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	25977	NECAP1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	16	AARS1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	6334	SCN8A	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	22866	CNKSR2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	9568	GABBR2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2555	GABRA2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	55152	DALRD3	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	773	CACNA1A	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	26999	CYFIP2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	4915	NTRK2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	25973	PARS2	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	23097	CDK19	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	64801	ARV1	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	79947	DHDDS	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	2257	FGF12	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	5530	PPP3CA	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	478	ATP1A3	ORPHA:442835
HP:0011203	EEG with abnormally slow frequencies	84992	PIGY	OMIM:616809
HP:0011203	EEG with abnormally slow frequencies	2903	GRIN2A	ORPHA:289266
HP:0011203	EEG with abnormally slow frequencies	1203	CLN5	ORPHA:228360
HP:0011203	EEG with abnormally slow frequencies	1798	DPAGT1	ORPHA:86309
HP:0011203	EEG with abnormally slow frequencies	11133	KPTN	ORPHA:397612
HP:0011203	EEG with abnormally slow frequencies	6792	CDKL5	OMIM:300672
HP:0011203	EEG with abnormally slow frequencies	4204	MECP2	OMIM:300055
HP:0011203	EEG with abnormally slow frequencies	283987	HID1	OMIM:619983
HP:0011203	EEG with abnormally slow frequencies	10588	MTHFS	OMIM:618367
HP:0011203	EEG with abnormally slow frequencies	2893	GRIA4	OMIM:617864
HP:0011203	EEG with abnormally slow frequencies	1593	CYP27A1	OMIM:213700
HP:0011203	EEG with abnormally slow frequencies	11342	RNF13	ORPHA:544503
HP:0011203	EEG with abnormally slow frequencies	22845	DOLK	ORPHA:91131
HP:0011203	EEG with abnormally slow frequencies	4001	LMNB1	ORPHA:99027
HP:0011203	EEG with abnormally slow frequencies	6513	SLC2A1	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	8831	SYNGAP1	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	1173	AP2M1	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	6323	SCN1A	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	340533	NEXMIF	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	1106	CHD2	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	6529	SLC6A1	ORPHA:1942
HP:0011203	EEG with abnormally slow frequencies	501	ALDH7A1	ORPHA:3006
HP:0011203	EEG with abnormally slow frequencies	11212	PLPBP	ORPHA:3006
HP:0011203	EEG with abnormally slow frequencies	26047	CNTNAP2	ORPHA:163681
HP:0011203	EEG with abnormally slow frequencies	7337	UBE3A	ORPHA:98794
HP:0011203	EEG with abnormally slow frequencies	4948	OCA2	ORPHA:98794
HP:0011203	EEG with abnormally slow frequencies	2055	CLN8	ORPHA:1947
HP:0011203	EEG with abnormally slow frequencies	5354	PLP1	ORPHA:280219
HP:0011203	EEG with abnormally slow frequencies	54681	P4HTM	OMIM:618493
HP:0011203	EEG with abnormally slow frequencies	10128	LRPPRC	ORPHA:70472
HP:0011203	EEG with abnormally slow frequencies	25978	CHMP2B	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	25978	CHMP2B	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	5663	PSEN1	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	5663	PSEN1	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	2896	GRN	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	2896	GRN	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	54664	TMEM106B	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	54664	TMEM106B	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	8878	SQSTM1	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	4137	MAPT	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	4137	MAPT	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	54209	TREM2	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	54209	TREM2	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	7415	VCP	ORPHA:275864
HP:0011203	EEG with abnormally slow frequencies	7415	VCP	ORPHA:100070
HP:0011203	EEG with abnormally slow frequencies	2782	GNB1	OMIM:616973
HP:0011204	EEG with continuous slow activity	25978	CHMP2B	ORPHA:275864
HP:0011204	EEG with continuous slow activity	25978	CHMP2B	ORPHA:100070
HP:0011204	EEG with continuous slow activity	5663	PSEN1	ORPHA:275864
HP:0011204	EEG with continuous slow activity	5663	PSEN1	ORPHA:100070
HP:0011204	EEG with continuous slow activity	2896	GRN	ORPHA:275864
HP:0011204	EEG with continuous slow activity	2896	GRN	ORPHA:100070
HP:0011204	EEG with continuous slow activity	54664	TMEM106B	ORPHA:275864
HP:0011204	EEG with continuous slow activity	54664	TMEM106B	ORPHA:100070
HP:0011204	EEG with continuous slow activity	8878	SQSTM1	ORPHA:275864
HP:0011204	EEG with continuous slow activity	4137	MAPT	ORPHA:275864
HP:0011204	EEG with continuous slow activity	4137	MAPT	ORPHA:100070
HP:0011204	EEG with continuous slow activity	54209	TREM2	ORPHA:275864
HP:0011204	EEG with continuous slow activity	54209	TREM2	ORPHA:100070
HP:0011204	EEG with continuous slow activity	7415	VCP	ORPHA:275864
HP:0011204	EEG with continuous slow activity	7415	VCP	ORPHA:100070
HP:0011201	EEG with changes in voltage	5048	PAFAH1B1	ORPHA:95232
HP:4000039	Reduced proportion of mucosal-associated invariant T cells	1503	CTPS1	OMIM:615897
HP:0000627	Posterior embryotoxon	5308	PITX2	ORPHA:782
HP:0000627	Posterior embryotoxon	5308	PITX2	OMIM:180500
HP:0000627	Posterior embryotoxon	2296	FOXC1	ORPHA:782
HP:0000627	Posterior embryotoxon	2296	FOXC1	OMIM:601631
HP:0000627	Posterior embryotoxon	2296	FOXC1	OMIM:602482
HP:0000627	Posterior embryotoxon	9653	HS2ST1	OMIM:619194
HP:0000627	Posterior embryotoxon	5080	PAX6	OMIM:604229
HP:0000627	Posterior embryotoxon	6899	TBX1	OMIM:188400
HP:0000627	Posterior embryotoxon	6899	TBX1	OMIM:192430
HP:0000627	Posterior embryotoxon	6899	TBX1	ORPHA:567
HP:0000627	Posterior embryotoxon	5295	PIK3R1	ORPHA:3163
HP:0000627	Posterior embryotoxon	146167	SLC38A8	OMIM:609218
HP:0000627	Posterior embryotoxon	182	JAG1	OMIM:617992
HP:0000627	Posterior embryotoxon	182	JAG1	OMIM:118450
HP:0000627	Posterior embryotoxon	10413	YAP1	ORPHA:1473
HP:0000627	Posterior embryotoxon	6804	STX1A	ORPHA:904
HP:0000627	Posterior embryotoxon	7461	CLIP2	ORPHA:904
HP:0000627	Posterior embryotoxon	84277	DNAJC30	ORPHA:904
HP:0000627	Posterior embryotoxon	8468	FKBP6	ORPHA:904
HP:0000627	Posterior embryotoxon	5982	RFC2	ORPHA:904
HP:0000627	Posterior embryotoxon	2969	GTF2I	ORPHA:904
HP:0000627	Posterior embryotoxon	3984	LIMK1	ORPHA:904
HP:0000627	Posterior embryotoxon	9569	GTF2IRD1	ORPHA:904
HP:0000627	Posterior embryotoxon	155382	VPS37D	ORPHA:904
HP:0000627	Posterior embryotoxon	155368	METTL27	ORPHA:904
HP:0000627	Posterior embryotoxon	114049	BUD23	ORPHA:904
HP:0000627	Posterior embryotoxon	7458	EIF4H	ORPHA:904
HP:0000627	Posterior embryotoxon	84163	GTF2IRD2	ORPHA:904
HP:0000627	Posterior embryotoxon	9275	BCL7B	ORPHA:904
HP:0000627	Posterior embryotoxon	26608	TBL2	ORPHA:904
HP:0000627	Posterior embryotoxon	653361	NCF1	ORPHA:904
HP:0000627	Posterior embryotoxon	135886	TMEM270	ORPHA:904
HP:0000627	Posterior embryotoxon	51085	MLXIPL	ORPHA:904
HP:0000627	Posterior embryotoxon	9031	BAZ1B	ORPHA:904
HP:0000627	Posterior embryotoxon	2006	ELN	ORPHA:904
HP:0000627	Posterior embryotoxon	9993	DGCR2	OMIM:192430
HP:0000627	Posterior embryotoxon	8220	ESS2	OMIM:192430
HP:0000627	Posterior embryotoxon	8214	DGCR6	OMIM:192430
HP:0000627	Posterior embryotoxon	54487	DGCR8	OMIM:192430
HP:0000627	Posterior embryotoxon	5195	PEX14	OMIM:614887
HP:0000627	Posterior embryotoxon	5195	PEX14	ORPHA:912
HP:0000627	Posterior embryotoxon	55670	PEX26	ORPHA:912
HP:0000627	Posterior embryotoxon	5824	PEX19	ORPHA:912
HP:0000627	Posterior embryotoxon	5828	PEX2	ORPHA:912
HP:0000627	Posterior embryotoxon	8504	PEX3	ORPHA:912
HP:0000627	Posterior embryotoxon	8799	PEX11B	ORPHA:912
HP:0000627	Posterior embryotoxon	9409	PEX16	ORPHA:912
HP:0000627	Posterior embryotoxon	5190	PEX6	ORPHA:912
HP:0000627	Posterior embryotoxon	5830	PEX5	ORPHA:912
HP:0000627	Posterior embryotoxon	5189	PEX1	ORPHA:912
HP:0000627	Posterior embryotoxon	5193	PEX12	ORPHA:912
HP:0000627	Posterior embryotoxon	5194	PEX13	ORPHA:912
HP:0000627	Posterior embryotoxon	5192	PEX10	ORPHA:912
HP:0000627	Posterior embryotoxon	4853	NOTCH2	OMIM:610205
HP:0000627	Posterior embryotoxon	3166	HMX1	OMIM:612109
HP:0000627	Posterior embryotoxon	1312	COMT	ORPHA:567
HP:0000627	Posterior embryotoxon	221037	JMJD1C	ORPHA:567
HP:0000627	Posterior embryotoxon	2812	GP1BB	ORPHA:567
HP:0000627	Posterior embryotoxon	6239	RREB1	ORPHA:567
HP:0000627	Posterior embryotoxon	7290	HIRA	ORPHA:567
HP:0000627	Posterior embryotoxon	9632	SEC24C	ORPHA:567
HP:0000627	Posterior embryotoxon	7353	UFD1	ORPHA:567
HP:0000627	Posterior embryotoxon	421	ARVCF	ORPHA:567
HP:0000627	Posterior embryotoxon	54539	NDUFB11	ORPHA:2556
HP:0000627	Posterior embryotoxon	1349	COX7B	ORPHA:2556
HP:0000627	Posterior embryotoxon	3052	HCCS	ORPHA:2556
HP:0001084	Corneal arcus	11081	KERA	OMIM:217300
HP:0001084	Corneal arcus	55315	SLC29A3	OMIM:602782
HP:0001084	Corneal arcus	55315	SLC29A3	ORPHA:168569
HP:0001084	Corneal arcus	3931	LCAT	OMIM:245900
HP:0001084	Corneal arcus	255738	PCSK9	OMIM:603776
HP:0001084	Corneal arcus	335	APOA1	OMIM:618463
HP:0001084	Corneal arcus	338	APOB	OMIM:144010
HP:0001084	Corneal arcus	336	APOA2	OMIM:143890
HP:0001084	Corneal arcus	2053	EPHX2	OMIM:143890
HP:0001084	Corneal arcus	10842	PPP1R17	OMIM:143890
HP:0001084	Corneal arcus	2690	GHR	OMIM:143890
HP:0001084	Corneal arcus	3949	LDLR	OMIM:143890
HP:0001084	Corneal arcus	3990	LIPC	OMIM:614025
HP:0001084	Corneal arcus	91851	CHRDL1	OMIM:309300
HP:0001084	Corneal arcus	5832	ALDH18A1	OMIM:219150
HP:0001084	Corneal arcus	348	APOE	ORPHA:412
HP:0001084	Corneal arcus	64241	ABCG8	OMIM:210250
HP:0100742	Vascular neoplasm	9897	WASHC5	ORPHA:7
HP:0100742	Vascular neoplasm	28952	CCDC22	ORPHA:7
HP:0100742	Vascular neoplasm	171023	ASXL1	OMIM:605039
HP:0100742	Vascular neoplasm	5500	PPP1CB	OMIM:617506
HP:0100742	Vascular neoplasm	79644	SRD5A3	OMIM:612713
HP:0100742	Vascular neoplasm	26040	SETBP1	OMIM:269150
HP:0100742	Vascular neoplasm	26040	SETBP1	ORPHA:798
HP:0100742	Vascular neoplasm	246329	STAC3	ORPHA:168572
HP:0100742	Vascular neoplasm	1717	DHCR7	OMIM:270400
HP:0100742	Vascular neoplasm	1717	DHCR7	ORPHA:818
HP:0100742	Vascular neoplasm	2050	EPHB4	ORPHA:137667
HP:0100742	Vascular neoplasm	80036	TRPM3	OMIM:620224
HP:0100742	Vascular neoplasm	9939	RBM8A	OMIM:274000
HP:0100742	Vascular neoplasm	8036	SHOC2	OMIM:607721
HP:0100742	Vascular neoplasm	23013	SPEN	OMIM:619312
HP:0100742	Vascular neoplasm	8367	H4C5	OMIM:619950
HP:0100742	Vascular neoplasm	23135	KDM6B	OMIM:618505
HP:0100742	Vascular neoplasm	55654	TMEM127	OMIM:171300
HP:0100742	Vascular neoplasm	5979	RET	OMIM:171300
HP:0100742	Vascular neoplasm	4149	MAX	OMIM:171300
HP:0100742	Vascular neoplasm	811	CALR	ORPHA:824
HP:0100742	Vascular neoplasm	4352	MPL	ORPHA:824
HP:0100742	Vascular neoplasm	3717	JAK2	ORPHA:824
HP:0100742	Vascular neoplasm	54790	TET2	ORPHA:824
HP:0100742	Vascular neoplasm	64324	NSD1	ORPHA:821
HP:0100742	Vascular neoplasm	29072	SETD2	ORPHA:821
HP:0100742	Vascular neoplasm	10297	APC2	ORPHA:821
HP:0100742	Vascular neoplasm	284058	KANSL1	ORPHA:363965
HP:0100742	Vascular neoplasm	284058	KANSL1	ORPHA:363958
HP:0100742	Vascular neoplasm	5476	CTSA	OMIM:256540
HP:0100742	Vascular neoplasm	28514	DLL1	ORPHA:280200
HP:0100742	Vascular neoplasm	2253	FGF8	ORPHA:280200
HP:0100742	Vascular neoplasm	6496	SIX3	ORPHA:280200
HP:0100742	Vascular neoplasm	7050	TGIF1	ORPHA:280200
HP:0100742	Vascular neoplasm	4838	NODAL	ORPHA:280200
HP:0100742	Vascular neoplasm	6469	SHH	ORPHA:280200
HP:0100742	Vascular neoplasm	51684	SUFU	ORPHA:280200
HP:0100742	Vascular neoplasm	7546	ZIC2	ORPHA:280200
HP:0100742	Vascular neoplasm	2619	GAS1	ORPHA:280200
HP:0100742	Vascular neoplasm	84976	DISP1	ORPHA:280200
HP:0100742	Vascular neoplasm	2736	GLI2	ORPHA:280200
HP:0100742	Vascular neoplasm	8928	FOXH1	ORPHA:280200
HP:0100742	Vascular neoplasm	5727	PTCH1	ORPHA:280200
HP:0100742	Vascular neoplasm	50937	CDON	ORPHA:280200
HP:0100742	Vascular neoplasm	8813	DPM1	OMIM:608799
HP:0100742	Vascular neoplasm	5745	PTH1R	ORPHA:296
HP:0100742	Vascular neoplasm	57492	ARID1B	OMIM:135900
HP:0100742	Vascular neoplasm	10082	GPC6	OMIM:258315
HP:0100742	Vascular neoplasm	340665	CYP26C1	ORPHA:398189
HP:0100742	Vascular neoplasm	23219	FBXO28	OMIM:619777
HP:0100742	Vascular neoplasm	55109	AGGF1	ORPHA:90308
HP:0100742	Vascular neoplasm	23592	LEMD3	ORPHA:1306
HP:0100742	Vascular neoplasm	10312	TCIRG1	ORPHA:486
HP:0100742	Vascular neoplasm	1991	ELANE	ORPHA:486
HP:0100742	Vascular neoplasm	2672	GFI1	ORPHA:486
HP:0100742	Vascular neoplasm	6729	SRP54	ORPHA:486
HP:0100742	Vascular neoplasm	81570	CLPB	ORPHA:486
HP:0100742	Vascular neoplasm	10943	MSL3	OMIM:301032
HP:0100742	Vascular neoplasm	10815	CPLX1	ORPHA:280
HP:0100742	Vascular neoplasm	10815	CPLX1	OMIM:194190
HP:0100742	Vascular neoplasm	54872	PIGG	ORPHA:280
HP:0100742	Vascular neoplasm	7469	NELFA	ORPHA:280
HP:0100742	Vascular neoplasm	1487	CTBP1	ORPHA:280
HP:0100742	Vascular neoplasm	1487	CTBP1	OMIM:194190
HP:0100742	Vascular neoplasm	3954	LETM1	ORPHA:280
HP:0100742	Vascular neoplasm	3954	LETM1	OMIM:194190
HP:0100742	Vascular neoplasm	7468	NSD2	ORPHA:280
HP:0100742	Vascular neoplasm	7468	NSD2	OMIM:194190
HP:0100742	Vascular neoplasm	4763	NF1	ORPHA:363700
HP:0100742	Vascular neoplasm	2475	MTOR	ORPHA:457485
HP:0100742	Vascular neoplasm	7020	TFAP2A	ORPHA:1297
HP:0100742	Vascular neoplasm	657	BMPR1A	ORPHA:79076
HP:0100742	Vascular neoplasm	53834	FGFRL1	OMIM:194190
HP:0100742	Vascular neoplasm	2658	GDF2	ORPHA:774
HP:0100742	Vascular neoplasm	94	ACVRL1	ORPHA:774
HP:0100742	Vascular neoplasm	4089	SMAD4	ORPHA:774
HP:0100742	Vascular neoplasm	2022	ENG	ORPHA:774
HP:0100742	Vascular neoplasm	10483	SEC23B	ORPHA:201
HP:0100742	Vascular neoplasm	5728	PTEN	ORPHA:201
HP:0100742	Vascular neoplasm	6390	SDHB	ORPHA:201
HP:0100742	Vascular neoplasm	6392	SDHD	ORPHA:201
HP:0100742	Vascular neoplasm	6391	SDHC	ORPHA:201
HP:0100742	Vascular neoplasm	207	AKT1	ORPHA:201
HP:0100742	Vascular neoplasm	205717	USF3	ORPHA:201
HP:0100742	Vascular neoplasm	100144748	KLLN	ORPHA:201
HP:0100742	Vascular neoplasm	3265	HRAS	ORPHA:2612
HP:0100742	Vascular neoplasm	3845	KRAS	ORPHA:2612
HP:0100742	Vascular neoplasm	3845	KRAS	ORPHA:1340
HP:0100742	Vascular neoplasm	4893	NRAS	ORPHA:2612
HP:0100742	Vascular neoplasm	7010	TEK	ORPHA:1059
HP:0100742	Vascular neoplasm	4851	NOTCH1	OMIM:616028
HP:0100742	Vascular neoplasm	673	BRAF	OMIM:115150
HP:0100742	Vascular neoplasm	673	BRAF	ORPHA:1340
HP:0100742	Vascular neoplasm	5604	MAP2K1	ORPHA:1340
HP:0100742	Vascular neoplasm	5605	MAP2K2	ORPHA:1340
HP:0100742	Vascular neoplasm	79158	GNPTAB	OMIM:252500
HP:0100742	Vascular neoplasm	55901	THSD1	OMIM:620244
HP:0100742	Vascular neoplasm	274	BIN1	ORPHA:169189
HP:0100742	Vascular neoplasm	64419	MTMR14	ORPHA:169189
HP:0100742	Vascular neoplasm	4618	MYF6	ORPHA:169189
HP:0100742	Vascular neoplasm	1785	DNM2	ORPHA:169189
HP:0100742	Vascular neoplasm	6261	RYR1	ORPHA:169189
HP:0100742	Vascular neoplasm	3239	HOXD13	ORPHA:887
HP:0100742	Vascular neoplasm	2535	FZD2	OMIM:164745
HP:0100742	Vascular neoplasm	22800	RRAS2	OMIM:618624
HP:0100742	Vascular neoplasm	6909	TBX2	OMIM:618223
HP:0100742	Vascular neoplasm	1836	SLC26A2	ORPHA:56304
HP:0100742	Vascular neoplasm	2137	EXTL3	ORPHA:508533
HP:0100742	Vascular neoplasm	9653	HS2ST1	OMIM:619194
HP:0100742	Vascular neoplasm	10484	SEC23A	ORPHA:50814
HP:0100742	Vascular neoplasm	10484	SEC23A	OMIM:607812
HP:0100742	Vascular neoplasm	1857	DVL3	ORPHA:3107
HP:0100742	Vascular neoplasm	7474	WNT5A	ORPHA:3107
HP:0100742	Vascular neoplasm	1855	DVL1	ORPHA:3107
HP:0100742	Vascular neoplasm	2260	FGFR1	ORPHA:2396
HP:0100742	Vascular neoplasm	526	ATP6V1B2	ORPHA:79500
HP:0100742	Vascular neoplasm	57465	TBC1D24	ORPHA:79500
HP:0100742	Vascular neoplasm	2776	GNAQ	ORPHA:3205
HP:0100742	Vascular neoplasm	22827	PUF60	ORPHA:508488
HP:0100742	Vascular neoplasm	2324	FLT4	OMIM:602089
HP:0100742	Vascular neoplasm	84168	ANTXR1	OMIM:602089
HP:0100742	Vascular neoplasm	3791	KDR	OMIM:602089
HP:0100742	Vascular neoplasm	129563	DIS3L2	ORPHA:2849
HP:0100742	Vascular neoplasm	2767	GNA11	ORPHA:1556
HP:0100742	Vascular neoplasm	151188	ARL6IP6	ORPHA:1556
HP:0100742	Vascular neoplasm	440275	EIF2AK4	OMIM:234810
HP:0100742	Vascular neoplasm	440275	EIF2AK4	ORPHA:199241
HP:0100742	Vascular neoplasm	9401	RECQL4	OMIM:218600
HP:0100742	Vascular neoplasm	5921	RASA1	ORPHA:90307
HP:0100742	Vascular neoplasm	3418	IDH2	ORPHA:163634
HP:0100742	Vascular neoplasm	3417	IDH1	ORPHA:163634
HP:0100742	Vascular neoplasm	4247	MGAT2	OMIM:212066
HP:0100742	Vascular neoplasm	5447	POR	ORPHA:95699
HP:0100742	Vascular neoplasm	157570	ESCO2	OMIM:268300
HP:0100742	Vascular neoplasm	2737	GLI3	ORPHA:672
HP:0100742	Vascular neoplasm	2737	GLI3	OMIM:146510
HP:0100742	Vascular neoplasm	10225	CD96	ORPHA:1308
HP:0100742	Vascular neoplasm	1743	DLST	ORPHA:29072
HP:0100742	Vascular neoplasm	4191	MDH2	ORPHA:29072
HP:0100742	Vascular neoplasm	6389	SDHA	ORPHA:29072
HP:0100742	Vascular neoplasm	23095	KIF1B	ORPHA:29072
HP:0100742	Vascular neoplasm	2271	FH	ORPHA:29072
HP:0100742	Vascular neoplasm	8402	SLC25A11	ORPHA:29072
HP:0100742	Vascular neoplasm	54949	SDHAF2	ORPHA:29072
HP:0100742	Vascular neoplasm	7249	TSC2	OMIM:613254
HP:0100742	Vascular neoplasm	7249	TSC2	ORPHA:805
HP:0100742	Vascular neoplasm	7249	TSC2	ORPHA:538
HP:0100742	Vascular neoplasm	7249	TSC2	OMIM:606690
HP:0100742	Vascular neoplasm	3458	IFNG	OMIM:613254
HP:0100742	Vascular neoplasm	3458	IFNG	ORPHA:805
HP:0100742	Vascular neoplasm	7248	TSC1	ORPHA:805
HP:0100742	Vascular neoplasm	7248	TSC1	OMIM:191100
HP:0100742	Vascular neoplasm	7248	TSC1	ORPHA:538
HP:0100742	Vascular neoplasm	7248	TSC1	OMIM:606690
HP:0100742	Vascular neoplasm	1387	CREBBP	OMIM:180849
HP:0100742	Vascular neoplasm	2033	EP300	OMIM:180849
HP:0100742	Vascular neoplasm	595	CCND1	OMIM:193300
HP:0100742	Vascular neoplasm	7428	VHL	OMIM:193300
HP:0100742	Vascular neoplasm	9630	GNA14	ORPHA:1063
HP:0100742	Vascular neoplasm	490	ATP2B1	OMIM:619910
HP:0100742	Vascular neoplasm	5290	PIK3CA	OMIM:619538
HP:0100742	Vascular neoplasm	889	KRIT1	OMIM:116860
HP:0100742	Vascular neoplasm	11235	PDCD10	OMIM:603285
HP:0100742	Vascular neoplasm	83605	CCM2	OMIM:603284
HP:0100742	Vascular neoplasm	4693	NDP	ORPHA:649
HP:0100742	Vascular neoplasm	2263	FGFR2	ORPHA:1555
HP:0100743	Neoplasm of the rectum	4072	EPCAM	ORPHA:144
HP:0100743	Neoplasm of the rectum	4292	MLH1	ORPHA:144
HP:0100743	Neoplasm of the rectum	5395	PMS2	ORPHA:144
HP:0100743	Neoplasm of the rectum	27030	MLH3	ORPHA:144
HP:0100743	Neoplasm of the rectum	22909	FAN1	ORPHA:144
HP:0100743	Neoplasm of the rectum	7048	TGFBR2	ORPHA:144
HP:0100743	Neoplasm of the rectum	3845	KRAS	ORPHA:144
HP:0100743	Neoplasm of the rectum	5290	PIK3CA	ORPHA:144
HP:0100743	Neoplasm of the rectum	2956	MSH6	ORPHA:144
HP:0100743	Neoplasm of the rectum	2956	MSH6	OMIM:619097
HP:0100743	Neoplasm of the rectum	5378	PMS1	ORPHA:144
HP:0100743	Neoplasm of the rectum	4436	MSH2	ORPHA:144
HP:0100743	Neoplasm of the rectum	8313	AXIN2	ORPHA:401911
HP:0100743	Neoplasm of the rectum	6389	SDHA	ORPHA:44890
HP:0100743	Neoplasm of the rectum	6390	SDHB	ORPHA:44890
HP:0100743	Neoplasm of the rectum	6391	SDHC	ORPHA:44890
HP:0100743	Neoplasm of the rectum	5156	PDGFRA	ORPHA:44890
HP:0100743	Neoplasm of the rectum	3815	KIT	ORPHA:44890
HP:0100743	Neoplasm of the rectum	26585	GREM1	ORPHA:157794
HP:0100743	Neoplasm of the rectum	657	BMPR1A	ORPHA:157794
HP:0100743	Neoplasm of the rectum	657	BMPR1A	ORPHA:440437
HP:0100743	Neoplasm of the rectum	4913	NTHL1	ORPHA:454840
HP:0100743	Neoplasm of the rectum	64218	SEMA4A	ORPHA:440437
HP:0100743	Neoplasm of the rectum	6224	RPS20	ORPHA:440437
HP:0100743	Neoplasm of the rectum	6794	STK11	ORPHA:2869
HP:0100743	Neoplasm of the rectum	5426	POLE	ORPHA:447877
HP:0100743	Neoplasm of the rectum	5424	POLD1	ORPHA:447877
HP:0100743	Neoplasm of the rectum	4437	MSH3	ORPHA:480536
HP:0100743	Neoplasm of the rectum	5573	PRKAR1A	ORPHA:1359
HP:0100743	Neoplasm of the rectum	50940	PDE11A	ORPHA:1359
HP:0100743	Neoplasm of the rectum	7157	TP53	ORPHA:524
HP:0100743	Neoplasm of the rectum	1029	CDKN2A	ORPHA:524
HP:0100743	Neoplasm of the rectum	4193	MDM2	ORPHA:524
HP:0100743	Neoplasm of the rectum	11200	CHEK2	ORPHA:524
HP:0100743	Neoplasm of the rectum	4595	MUTYH	ORPHA:247798
HP:0100743	Neoplasm of the rectum	4089	SMAD4	ORPHA:329971
HP:0100743	Neoplasm of the rectum	2022	ENG	ORPHA:329971
HP:0100743	Neoplasm of the rectum	10483	SEC23B	ORPHA:201
HP:0100743	Neoplasm of the rectum	5728	PTEN	ORPHA:201
HP:0100743	Neoplasm of the rectum	6392	SDHD	ORPHA:201
HP:0100743	Neoplasm of the rectum	207	AKT1	ORPHA:201
HP:0100743	Neoplasm of the rectum	205717	USF3	ORPHA:201
HP:0100743	Neoplasm of the rectum	100144748	KLLN	ORPHA:201
HP:0100743	Neoplasm of the rectum	54894	RNF43	ORPHA:157798
HP:0100743	Neoplasm of the rectum	324	APC	OMIM:135290
HP:0100743	Neoplasm of the rectum	9817	KEAP1	ORPHA:276399
HP:0100743	Neoplasm of the rectum	23405	DICER1	ORPHA:276399
HP:0100744	Abnormality of the humeroradial joint	9791	PTDSS1	OMIM:151050
HP:0100744	Abnormality of the humeroradial joint	6913	TBX15	OMIM:260660
HP:0100744	Abnormality of the humeroradial joint	6913	TBX15	ORPHA:93333
HP:0100744	Abnormality of the humeroradial joint	5447	POR	OMIM:201750
HP:0100744	Abnormality of the humeroradial joint	5447	POR	OMIM:207410
HP:0100744	Abnormality of the humeroradial joint	5447	POR	ORPHA:95699
HP:0100744	Abnormality of the humeroradial joint	9241	NOG	OMIM:186570
HP:0100744	Abnormality of the humeroradial joint	2260	FGFR1	OMIM:101600
HP:0100744	Abnormality of the humeroradial joint	2263	FGFR2	OMIM:101600
HP:0100744	Abnormality of the humeroradial joint	2263	FGFR2	OMIM:207410
HP:0100744	Abnormality of the humeroradial joint	2263	FGFR2	OMIM:101200
HP:0100744	Abnormality of the humeroradial joint	7476	WNT7A	ORPHA:2879
HP:0100744	Abnormality of the humeroradial joint	7476	WNT7A	OMIM:276820
HP:0100744	Abnormality of the humeroradial joint	56603	CYP26B1	OMIM:614416
HP:0100744	Abnormality of the humeroradial joint	2254	FGF9	OMIM:612961
HP:0100744	Abnormality of the humeroradial joint	8200	GDF5	OMIM:610017
HP:0100744	Abnormality of the humeroradial joint	29980	DONSON	OMIM:251230
HP:0100744	Abnormality of the humeroradial joint	11285	B4GALT7	OMIM:130070
HP:0100744	Abnormality of the humeroradial joint	1182	CLCN3	OMIM:619512
HP:0100744	Abnormality of the humeroradial joint	85301	COL27A1	OMIM:615155
HP:0100744	Abnormality of the humeroradial joint	1387	CREBBP	OMIM:180849
HP:0100744	Abnormality of the humeroradial joint	2033	EP300	OMIM:180849
HP:0100744	Abnormality of the humeroradial joint	23233	EXOC6B	ORPHA:93359
HP:0100744	Abnormality of the humeroradial joint	23233	EXOC6B	OMIM:618395
HP:0100744	Abnormality of the humeroradial joint	126792	B3GALT6	ORPHA:93359
HP:0100744	Abnormality of the humeroradial joint	126792	B3GALT6	OMIM:271640
HP:0100744	Abnormality of the humeroradial joint	4010	LMX1B	ORPHA:2614
HP:0100744	Abnormality of the humeroradial joint	6885	MAP3K7	OMIM:617137
HP:0100744	Abnormality of the humeroradial joint	6885	MAP3K7	ORPHA:1826
HP:0100744	Abnormality of the humeroradial joint	145258	GSC	OMIM:602471
HP:0100744	Abnormality of the humeroradial joint	10847	SRCAP	OMIM:136140
HP:0100744	Abnormality of the humeroradial joint	10847	SRCAP	ORPHA:2044
HP:0100744	Abnormality of the humeroradial joint	91179	SCARF2	OMIM:600920
HP:0100744	Abnormality of the humeroradial joint	8318	CDC45	OMIM:617063
HP:0100744	Abnormality of the humeroradial joint	2137	EXTL3	OMIM:617425
HP:0100744	Abnormality of the humeroradial joint	6662	SOX9	OMIM:114290
HP:0100744	Abnormality of the humeroradial joint	10225	CD96	OMIM:211750
HP:0100744	Abnormality of the humeroradial joint	10225	CD96	ORPHA:1308
HP:0100744	Abnormality of the humeroradial joint	2067	ERCC1	OMIM:610758
HP:0100744	Abnormality of the humeroradial joint	2535	FZD2	OMIM:164745
HP:0100744	Abnormality of the humeroradial joint	4920	ROR2	OMIM:268310
HP:0100744	Abnormality of the humeroradial joint	1146	CHRNG	OMIM:265000
HP:0100744	Abnormality of the humeroradial joint	6497	SKI	OMIM:182212
HP:0100744	Abnormality of the humeroradial joint	2316	FLNA	OMIM:305620
HP:0100744	Abnormality of the humeroradial joint	2316	FLNA	ORPHA:1826
HP:0100744	Abnormality of the humeroradial joint	2316	FLNA	OMIM:311300
HP:0100744	Abnormality of the humeroradial joint	3835	KIF22	OMIM:603546
HP:0100744	Abnormality of the humeroradial joint	57492	ARID1B	OMIM:135900
HP:0100744	Abnormality of the humeroradial joint	3899	AFF3	OMIM:619297
HP:0100744	Abnormality of the humeroradial joint	9469	CHST3	OMIM:143095
HP:0100744	Abnormality of the humeroradial joint	9469	CHST3	OMIM:245600
HP:0100744	Abnormality of the humeroradial joint	4853	NOTCH2	OMIM:102500
HP:0100744	Abnormality of the humeroradial joint	25836	NIPBL	OMIM:122470
HP:0100744	Abnormality of the humeroradial joint	100151683	RNU4ATAC	ORPHA:1824
HP:0100744	Abnormality of the humeroradial joint	7474	WNT5A	OMIM:180700
HP:0100744	Abnormality of the humeroradial joint	1855	DVL1	OMIM:180700
HP:0100744	Abnormality of the humeroradial joint	1277	COL1A1	ORPHA:287
HP:0100744	Abnormality of the humeroradial joint	1289	COL5A1	ORPHA:287
HP:0100744	Abnormality of the humeroradial joint	1290	COL5A2	ORPHA:287
HP:0100744	Abnormality of the humeroradial joint	26229	B3GAT3	OMIM:245600
HP:0100744	Abnormality of the humeroradial joint	3897	L1CAM	OMIM:304100
HP:0100744	Abnormality of the humeroradial joint	171023	ASXL1	OMIM:605039
HP:0100744	Abnormality of the humeroradial joint	91252	SLC39A13	OMIM:612350
HP:0100744	Abnormality of the humeroradial joint	545	ATR	OMIM:210600
HP:0100744	Abnormality of the humeroradial joint	649	BMP1	OMIM:614856
HP:0100744	Abnormality of the humeroradial joint	5573	PRKAR1A	OMIM:101800
HP:0100744	Abnormality of the humeroradial joint	10082	GPC6	OMIM:258315
HP:0100744	Abnormality of the humeroradial joint	387733	IFITM5	OMIM:610967
HP:0100744	Abnormality of the humeroradial joint	6473	SHOX	ORPHA:314795
HP:0100748	Muscular edema	8291	DYSF	ORPHA:268
HP:0100749	Chest pain	57104	PNPLA2	ORPHA:565612
HP:0100749	Chest pain	1288	COL4A6	ORPHA:1018
HP:0100749	Chest pain	1287	COL4A5	ORPHA:1018
HP:0100749	Chest pain	4352	MPL	ORPHA:71493
HP:0100749	Chest pain	4352	MPL	ORPHA:3318
HP:0100749	Chest pain	7066	THPO	ORPHA:71493
HP:0100749	Chest pain	3717	JAK2	ORPHA:71493
HP:0100749	Chest pain	3717	JAK2	ORPHA:3318
HP:0100749	Chest pain	4625	MYH7	ORPHA:1880
HP:0100749	Chest pain	6775	STAT4	ORPHA:93552
HP:0100749	Chest pain	6696	SPP1	ORPHA:93552
HP:0100749	Chest pain	3654	IRAK1	ORPHA:93552
HP:0100749	Chest pain	2778	GNAS	ORPHA:94089
HP:0100749	Chest pain	2778	GNAS	ORPHA:79443
HP:0100749	Chest pain	2778	GNAS	ORPHA:79444
HP:0100749	Chest pain	8675	STX16	ORPHA:94089
HP:0100749	Chest pain	4210	MEFV	OMIM:249100
HP:0100749	Chest pain	4210	MEFV	ORPHA:342
HP:0100749	Chest pain	4210	MEFV	OMIM:134610
HP:0100749	Chest pain	1829	DSG2	OMIM:610193
HP:0100749	Chest pain	70	ACTC1	OMIM:612098
HP:0100749	Chest pain	7248	TSC1	ORPHA:538
HP:0100749	Chest pain	7249	TSC2	ORPHA:538
HP:0100749	Chest pain	7132	TNFRSF1A	ORPHA:32960
HP:0100749	Chest pain	3119	HLA-DQB1	ORPHA:930
HP:0100749	Chest pain	9244	CRLF1	ORPHA:930
HP:0100749	Chest pain	3117	HLA-DQA1	ORPHA:930
HP:0100749	Chest pain	4842	NOS1	ORPHA:930
HP:0100749	Chest pain	1281	COL3A1	OMIM:130050
HP:0100749	Chest pain	2022	ENG	OMIM:187300
HP:0100749	Chest pain	4633	MYL2	OMIM:608758
HP:0100749	Chest pain	56244	BTNL2	OMIM:612387
HP:0100749	Chest pain	56244	BTNL2	ORPHA:797
HP:0100749	Chest pain	1000	CDH2	OMIM:618920
HP:0100749	Chest pain	5350	PLN	OMIM:613874
HP:0100749	Chest pain	5921	RASA1	ORPHA:90307
HP:0100749	Chest pain	7428	VHL	ORPHA:276621
HP:0100749	Chest pain	7428	VHL	ORPHA:29072
HP:0100749	Chest pain	5979	RET	ORPHA:276621
HP:0100749	Chest pain	5979	RET	OMIM:171400
HP:0100749	Chest pain	5979	RET	ORPHA:29072
HP:0100749	Chest pain	1788	DNMT3A	ORPHA:276621
HP:0100749	Chest pain	2034	EPAS1	ORPHA:276621
HP:0100749	Chest pain	6392	SDHD	ORPHA:276621
HP:0100749	Chest pain	6392	SDHD	ORPHA:29072
HP:0100749	Chest pain	6390	SDHB	ORPHA:276621
HP:0100749	Chest pain	6390	SDHB	ORPHA:29072
HP:0100749	Chest pain	4566	MT-TK	ORPHA:1349
HP:0100749	Chest pain	5277	PIGA	ORPHA:447
HP:0100749	Chest pain	2131	EXT1	ORPHA:321
HP:0100749	Chest pain	2132	EXT2	ORPHA:321
HP:0100749	Chest pain	6329	SCN4A	ORPHA:682
HP:0100749	Chest pain	6329	SCN4A	ORPHA:99735
HP:0100749	Chest pain	6329	SCN4A	ORPHA:99736
HP:0100749	Chest pain	64127	NOD2	OMIM:617321
HP:0100749	Chest pain	7134	TNNC1	OMIM:613243
HP:0100749	Chest pain	5498	PPOX	ORPHA:79473
HP:0100749	Chest pain	3123	HLA-DRB1	ORPHA:797
HP:0100749	Chest pain	3123	HLA-DRB1	ORPHA:747
HP:0100749	Chest pain	3123	HLA-DRB1	OMIM:181000
HP:0100749	Chest pain	3043	HBB	ORPHA:232
HP:0100749	Chest pain	1499	CTNNB1	ORPHA:873
HP:0100749	Chest pain	324	APC	ORPHA:873
HP:0100749	Chest pain	1621	DBH	ORPHA:230
HP:0100749	Chest pain	4607	MYBPC3	OMIM:115197
HP:0100749	Chest pain	51422	PRKAG2	OMIM:600858
HP:0100749	Chest pain	6340	SCNN1G	ORPHA:60033
HP:0100749	Chest pain	1080	CFTR	ORPHA:60033
HP:0100749	Chest pain	6337	SCNN1A	ORPHA:60033
HP:0100749	Chest pain	6338	SCNN1B	ORPHA:60033
HP:0100749	Chest pain	1743	DLST	ORPHA:29072
HP:0100749	Chest pain	4191	MDH2	ORPHA:29072
HP:0100749	Chest pain	6389	SDHA	ORPHA:29072
HP:0100749	Chest pain	23095	KIF1B	ORPHA:29072
HP:0100749	Chest pain	2271	FH	ORPHA:29072
HP:0100749	Chest pain	8402	SLC25A11	ORPHA:29072
HP:0100749	Chest pain	54949	SDHAF2	ORPHA:29072
HP:0100749	Chest pain	55654	TMEM127	ORPHA:29072
HP:0100749	Chest pain	4763	NF1	ORPHA:29072
HP:0100749	Chest pain	6391	SDHC	ORPHA:29072
HP:0100749	Chest pain	4149	MAX	ORPHA:29072
HP:0100749	Chest pain	7454	WAS	ORPHA:906
HP:0100749	Chest pain	7456	WIPF1	ORPHA:906
HP:0100749	Chest pain	6049	RNF6	ORPHA:99977
HP:0100749	Chest pain	7048	TGFBR2	ORPHA:99977
HP:0100749	Chest pain	7048	TGFBR2	ORPHA:91387
HP:0100749	Chest pain	51741	WWOX	ORPHA:99977
HP:0100749	Chest pain	9940	DLEC1	ORPHA:99977
HP:0100749	Chest pain	4629	MYH11	ORPHA:229
HP:0100749	Chest pain	4629	MYH11	ORPHA:91387
HP:0100749	Chest pain	1493	CTLA4	ORPHA:900
HP:0100749	Chest pain	26191	PTPN22	ORPHA:900
HP:0100749	Chest pain	3115	HLA-DPB1	ORPHA:900
HP:0100749	Chest pain	5657	PRTN3	ORPHA:900
HP:0100749	Chest pain	3113	HLA-DPA1	ORPHA:900
HP:0100749	Chest pain	171019	ADAMTS19	OMIM:620067
HP:0100749	Chest pain	79188	TMEM43	OMIM:604400
HP:0100749	Chest pain	27068	PPA2	OMIM:617223
HP:0100749	Chest pain	5573	PRKAR1A	ORPHA:615
HP:0100749	Chest pain	3662	IRF4	ORPHA:3452
HP:0100749	Chest pain	4205	MEF2A	OMIM:608320
HP:0100749	Chest pain	8314	BAP1	ORPHA:50251
HP:0100749	Chest pain	3593	IL12B	ORPHA:3287
HP:0100749	Chest pain	3106	HLA-B	ORPHA:3287
HP:0100749	Chest pain	6945	MLX	ORPHA:3287
HP:0100749	Chest pain	859	CAV3	OMIM:611818
HP:0100749	Chest pain	10568	SLC34A2	ORPHA:60025
HP:0100749	Chest pain	54344	DPM3	ORPHA:263494
HP:0100749	Chest pain	10019	SH2B3	ORPHA:3318
HP:0100749	Chest pain	811	CALR	ORPHA:3318
HP:0100749	Chest pain	7157	TP53	ORPHA:3318
HP:0100749	Chest pain	54790	TET2	ORPHA:3318
HP:0100749	Chest pain	7046	TGFBR1	ORPHA:91387
HP:0100749	Chest pain	4015	LOX	ORPHA:91387
HP:0100749	Chest pain	4087	SMAD2	ORPHA:91387
HP:0100749	Chest pain	7043	TGFB3	ORPHA:91387
HP:0100749	Chest pain	4088	SMAD3	ORPHA:91387
HP:0100749	Chest pain	7042	TGFB2	ORPHA:91387
HP:0100749	Chest pain	4089	SMAD4	ORPHA:91387
HP:0100749	Chest pain	2200	FBN1	ORPHA:91387
HP:0100749	Chest pain	59	ACTA2	ORPHA:91387
HP:0100749	Chest pain	5592	PRKG1	ORPHA:91387
HP:0100749	Chest pain	2301	FOXE3	ORPHA:91387
HP:0100749	Chest pain	4144	MAT2A	ORPHA:91387
HP:0100749	Chest pain	23493	HEY2	ORPHA:91387
HP:0100749	Chest pain	8076	MFAP5	ORPHA:91387
HP:0100749	Chest pain	4638	MYLK	ORPHA:91387
HP:0100749	Chest pain	2006	ELN	ORPHA:91387
HP:0011215	Hemihypsarrhythmia	5290	PIK3CA	ORPHA:99802
HP:0011215	Hemihypsarrhythmia	2475	MTOR	ORPHA:99802
HP:0011215	Hemihypsarrhythmia	10000	AKT3	ORPHA:99802
HP:0011217	Abnormal shape of the occiput	23019	CNOT1	OMIM:618500
HP:0011217	Abnormal shape of the occiput	23019	CNOT1	ORPHA:556955
HP:0011217	Abnormal shape of the occiput	28981	IFT81	OMIM:617895
HP:0011217	Abnormal shape of the occiput	57061	HYMAI	ORPHA:96191
HP:0011217	Abnormal shape of the occiput	5325	PLAGL1	ORPHA:96191
HP:0011217	Abnormal shape of the occiput	56006	SMG9	OMIM:616920
HP:0011217	Abnormal shape of the occiput	3265	HRAS	ORPHA:2612
HP:0011217	Abnormal shape of the occiput	3845	KRAS	ORPHA:2612
HP:0011217	Abnormal shape of the occiput	4893	NRAS	ORPHA:2612
HP:0011217	Abnormal shape of the occiput	100151683	RNU4ATAC	OMIM:210710
HP:0011217	Abnormal shape of the occiput	100151683	RNU4ATAC	ORPHA:2636
HP:0011217	Abnormal shape of the occiput	1861	TOR1A	OMIM:618947
HP:0011217	Abnormal shape of the occiput	526	ATP6V1B2	ORPHA:79500
HP:0011217	Abnormal shape of the occiput	57465	TBC1D24	ORPHA:79500
HP:0011217	Abnormal shape of the occiput	2737	GLI3	ORPHA:36
HP:0011217	Abnormal shape of the occiput	374654	KIF7	ORPHA:36
HP:0011217	Abnormal shape of the occiput	374654	KIF7	OMIM:200990
HP:0011217	Abnormal shape of the occiput	23556	PIGN	ORPHA:280633
HP:0011217	Abnormal shape of the occiput	5649	RELN	ORPHA:89844
HP:0011217	Abnormal shape of the occiput	10300	KATNB1	ORPHA:89844
HP:0011217	Abnormal shape of the occiput	54820	NDE1	ORPHA:89844
HP:0011217	Abnormal shape of the occiput	83737	ITCH	OMIM:613385
HP:0011217	Abnormal shape of the occiput	83737	ITCH	ORPHA:228426
HP:0011217	Abnormal shape of the occiput	10220	GDF11	OMIM:619122
HP:0011217	Abnormal shape of the occiput	4849	CNOT3	OMIM:618672
HP:0011217	Abnormal shape of the occiput	6911	TBX6	ORPHA:1797
HP:0011217	Abnormal shape of the occiput	126792	B3GALT6	ORPHA:2725
HP:0011217	Abnormal shape of the occiput	7841	MOGS	ORPHA:79330
HP:0011217	Abnormal shape of the occiput	7841	MOGS	OMIM:606056
HP:0011217	Abnormal shape of the occiput	57539	WDR35	ORPHA:1515
HP:0011217	Abnormal shape of the occiput	112752	IFT43	ORPHA:1515
HP:0011217	Abnormal shape of the occiput	51098	IFT52	ORPHA:1515
HP:0011217	Abnormal shape of the occiput	55764	IFT122	ORPHA:1515
HP:0011217	Abnormal shape of the occiput	57728	WDR19	ORPHA:1515
HP:0011217	Abnormal shape of the occiput	9897	WASHC5	OMIM:220210
HP:0011217	Abnormal shape of the occiput	9897	WASHC5	ORPHA:7
HP:0011217	Abnormal shape of the occiput	4784	NFIX	OMIM:602535
HP:0011217	Abnormal shape of the occiput	1513	CTSK	OMIM:265800
HP:0011217	Abnormal shape of the occiput	1028	CDKN1C	OMIM:130650
HP:0011217	Abnormal shape of the occiput	10984	KCNQ1OT1	OMIM:130650
HP:0011217	Abnormal shape of the occiput	3481	IGF2	OMIM:130650
HP:0011217	Abnormal shape of the occiput	3784	KCNQ1	OMIM:130650
HP:0011217	Abnormal shape of the occiput	7021	TFAP2B	ORPHA:46627
HP:0011217	Abnormal shape of the occiput	9968	MED12	ORPHA:93932
HP:0011217	Abnormal shape of the occiput	134701	RIPPLY2	ORPHA:2311
HP:0011217	Abnormal shape of the occiput	10683	DLL3	ORPHA:2311
HP:0011217	Abnormal shape of the occiput	3955	LFNG	ORPHA:2311
HP:0011217	Abnormal shape of the occiput	84667	HES7	ORPHA:2311
HP:0011217	Abnormal shape of the occiput	145873	MESP2	ORPHA:2311
HP:0011217	Abnormal shape of the occiput	1147	CHUK	OMIM:619339
HP:0011217	Abnormal shape of the occiput	2317	FLNB	OMIM:108721
HP:0011217	Abnormal shape of the occiput	23522	KAT6B	ORPHA:3047
HP:0011217	Abnormal shape of the occiput	23522	KAT6B	OMIM:603736
HP:0011217	Abnormal shape of the occiput	28952	CCDC22	ORPHA:7
HP:0011217	Abnormal shape of the occiput	538	ATP7A	ORPHA:565
HP:0011217	Abnormal shape of the occiput	55553	SOX6	OMIM:618971
HP:0011217	Abnormal shape of the occiput	8621	CDK13	OMIM:617360
HP:0011217	Abnormal shape of the occiput	5277	PIGA	OMIM:300868
HP:0011217	Abnormal shape of the occiput	2702	GJA5	OMIM:612474
HP:0011217	Abnormal shape of the occiput	2703	GJA8	OMIM:612474
HP:0011217	Abnormal shape of the occiput	4613	MYCN	OMIM:164280
HP:0011217	Abnormal shape of the occiput	2316	FLNA	OMIM:311300
HP:0011217	Abnormal shape of the occiput	2077	ERF	ORPHA:35093
HP:0011217	Abnormal shape of the occiput	60529	ALX4	ORPHA:35093
HP:0011217	Abnormal shape of the occiput	4853	NOTCH2	ORPHA:955
HP:0011217	Abnormal shape of the occiput	11253	MAN1B1	ORPHA:397941
HP:0011217	Abnormal shape of the occiput	11253	MAN1B1	OMIM:614202
HP:0011217	Abnormal shape of the occiput	3590	IL11RA	OMIM:614188
HP:0011217	Abnormal shape of the occiput	142680	SLC34A3	OMIM:241530
HP:0011217	Abnormal shape of the occiput	1594	CYP27B1	ORPHA:289157
HP:0011217	Abnormal shape of the occiput	1594	CYP27B1	OMIM:264700
HP:0011217	Abnormal shape of the occiput	120227	CYP2R1	ORPHA:289157
HP:0011217	Abnormal shape of the occiput	120227	CYP2R1	OMIM:600081
HP:0011217	Abnormal shape of the occiput	51633	OTUD6B	OMIM:617452
HP:0011217	Abnormal shape of the occiput	51633	OTUD6B	ORPHA:505237
HP:0011217	Abnormal shape of the occiput	6228	RPS23	OMIM:617412
HP:0011217	Abnormal shape of the occiput	23314	SATB2	ORPHA:251028
HP:0011217	Abnormal shape of the occiput	3098	HK1	OMIM:618547
HP:0011217	Abnormal shape of the occiput	84942	WDR73	OMIM:251300
HP:0011217	Abnormal shape of the occiput	79813	EHMT1	ORPHA:96147
HP:0011217	Abnormal shape of the occiput	23345	SYNE1	ORPHA:319332
HP:0011217	Abnormal shape of the occiput	6638	SNRPN	OMIM:105830
HP:0011217	Abnormal shape of the occiput	6638	SNRPN	ORPHA:177907
HP:0011217	Abnormal shape of the occiput	7337	UBE3A	OMIM:105830
HP:0011217	Abnormal shape of the occiput	7337	UBE3A	ORPHA:98794
HP:0011217	Abnormal shape of the occiput	7337	UBE3A	ORPHA:411511
HP:0011217	Abnormal shape of the occiput	5727	PTCH1	OMIM:610828
HP:0011217	Abnormal shape of the occiput	6872	TAF1	OMIM:300966
HP:0011217	Abnormal shape of the occiput	285590	SH3PXD2B	OMIM:249420
HP:0011217	Abnormal shape of the occiput	253959	RALGAPA1	OMIM:618797
HP:0011217	Abnormal shape of the occiput	23067	SETD1B	OMIM:619000
HP:0011217	Abnormal shape of the occiput	51506	UFC1	OMIM:618076
HP:0011217	Abnormal shape of the occiput	55784	MCTP2	ORPHA:1596
HP:0011217	Abnormal shape of the occiput	55670	PEX26	OMIM:614872
HP:0011217	Abnormal shape of the occiput	55670	PEX26	ORPHA:912
HP:0011217	Abnormal shape of the occiput	2263	FGFR2	OMIM:123790
HP:0011217	Abnormal shape of the occiput	7291	TWIST1	OMIM:617746
HP:0011217	Abnormal shape of the occiput	4952	OCRL	ORPHA:534
HP:0011217	Abnormal shape of the occiput	5189	PEX1	OMIM:214100
HP:0011217	Abnormal shape of the occiput	5189	PEX1	ORPHA:912
HP:0011217	Abnormal shape of the occiput	158	ADSL	ORPHA:46
HP:0011217	Abnormal shape of the occiput	4948	OCA2	ORPHA:98794
HP:0011217	Abnormal shape of the occiput	10559	SLC35A1	OMIM:603585
HP:0011217	Abnormal shape of the occiput	259266	ASPM	OMIM:608716
HP:0011217	Abnormal shape of the occiput	8813	DPM1	OMIM:608799
HP:0011217	Abnormal shape of the occiput	8813	DPM1	ORPHA:79322
HP:0011217	Abnormal shape of the occiput	4125	MAN2B1	OMIM:248500
HP:0011217	Abnormal shape of the occiput	10381	TUBB3	ORPHA:300570
HP:0011217	Abnormal shape of the occiput	2146	EZH2	OMIM:277590
HP:0011217	Abnormal shape of the occiput	5195	PEX14	OMIM:614887
HP:0011217	Abnormal shape of the occiput	5195	PEX14	ORPHA:912
HP:0011217	Abnormal shape of the occiput	23592	LEMD3	ORPHA:1306
HP:0011217	Abnormal shape of the occiput	8604	SLC25A12	OMIM:612949
HP:0011217	Abnormal shape of the occiput	9896	FIG4	OMIM:216340
HP:0011217	Abnormal shape of the occiput	129285	PPP1R21	OMIM:619383
HP:0011217	Abnormal shape of the occiput	54968	TMEM70	OMIM:614052
HP:0011217	Abnormal shape of the occiput	3832	KIF11	OMIM:152950
HP:0011217	Abnormal shape of the occiput	7545	ZIC1	OMIM:618736
HP:0011217	Abnormal shape of the occiput	7421	VDR	OMIM:277440
HP:0011217	Abnormal shape of the occiput	3636	INPPL1	ORPHA:2746
HP:0011217	Abnormal shape of the occiput	124512	METTL23	OMIM:615942
HP:0011217	Abnormal shape of the occiput	89910	UBE3B	ORPHA:2707
HP:0011217	Abnormal shape of the occiput	139285	AMER1	ORPHA:2780
HP:0011217	Abnormal shape of the occiput	5824	PEX19	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5828	PEX2	ORPHA:912
HP:0011217	Abnormal shape of the occiput	8504	PEX3	ORPHA:912
HP:0011217	Abnormal shape of the occiput	8799	PEX11B	ORPHA:912
HP:0011217	Abnormal shape of the occiput	9409	PEX16	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5190	PEX6	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5830	PEX5	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5193	PEX12	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5194	PEX13	ORPHA:912
HP:0011217	Abnormal shape of the occiput	5192	PEX10	ORPHA:912
HP:0011218	Abnormal shape of the frontal region	2137	EXTL3	ORPHA:508533
HP:0011218	Abnormal shape of the frontal region	1718	DHCR24	OMIM:602398
HP:0011218	Abnormal shape of the frontal region	1718	DHCR24	ORPHA:35107
HP:0011218	Abnormal shape of the frontal region	1497	CTNS	OMIM:219800
HP:0011218	Abnormal shape of the frontal region	11253	MAN1B1	ORPHA:397941
HP:0011218	Abnormal shape of the frontal region	1139	CHRNA7	ORPHA:199318
HP:0011218	Abnormal shape of the frontal region	5728	PTEN	OMIM:605309
HP:0011218	Abnormal shape of the frontal region	5728	PTEN	ORPHA:109
HP:0011218	Abnormal shape of the frontal region	5728	PTEN	ORPHA:79076
HP:0011218	Abnormal shape of the frontal region	83932	SPRTN	OMIM:616200
HP:0011218	Abnormal shape of the frontal region	3265	HRAS	ORPHA:2612
HP:0011218	Abnormal shape of the frontal region	3845	KRAS	ORPHA:2612
HP:0011218	Abnormal shape of the frontal region	3845	KRAS	ORPHA:1340
HP:0011218	Abnormal shape of the frontal region	3845	KRAS	OMIM:609942
HP:0011218	Abnormal shape of the frontal region	4893	NRAS	ORPHA:2612
HP:0011218	Abnormal shape of the frontal region	7291	TWIST1	OMIM:123100
HP:0011218	Abnormal shape of the frontal region	7291	TWIST1	ORPHA:35093
HP:0011218	Abnormal shape of the frontal region	1947	EFNB1	ORPHA:1520
HP:0011218	Abnormal shape of the frontal region	1947	EFNB1	OMIM:304110
HP:0011218	Abnormal shape of the frontal region	9820	CUL7	ORPHA:2616
HP:0011218	Abnormal shape of the frontal region	9820	CUL7	OMIM:273750
HP:0011218	Abnormal shape of the frontal region	23363	OBSL1	ORPHA:2616
HP:0011218	Abnormal shape of the frontal region	23363	OBSL1	OMIM:612921
HP:0011218	Abnormal shape of the frontal region	83987	CCDC8	ORPHA:2616
HP:0011218	Abnormal shape of the frontal region	83987	CCDC8	OMIM:614205
HP:0011218	Abnormal shape of the frontal region	7360	UGP2	OMIM:618744
HP:0011218	Abnormal shape of the frontal region	79848	CSPP1	ORPHA:397715
HP:0011218	Abnormal shape of the frontal region	9786	KIAA0586	ORPHA:397715
HP:0011218	Abnormal shape of the frontal region	267010	RNU12	OMIM:603116
HP:0011218	Abnormal shape of the frontal region	9578	CDC42BPB	OMIM:619841
HP:0011218	Abnormal shape of the frontal region	3020	H3-3A	OMIM:619720
HP:0011218	Abnormal shape of the frontal region	2737	GLI3	ORPHA:380
HP:0011218	Abnormal shape of the frontal region	2737	GLI3	OMIM:175700
HP:0011218	Abnormal shape of the frontal region	3021	H3-3B	OMIM:619721
HP:0011218	Abnormal shape of the frontal region	1855	DVL1	OMIM:616331
HP:0011218	Abnormal shape of the frontal region	1855	DVL1	OMIM:180700
HP:0011218	Abnormal shape of the frontal region	1855	DVL1	ORPHA:3107
HP:0011218	Abnormal shape of the frontal region	8942	KYNU	OMIM:617661
HP:0011218	Abnormal shape of the frontal region	55790	CSGALNACT1	OMIM:618870
HP:0011218	Abnormal shape of the frontal region	5830	PEX5	OMIM:202370
HP:0011218	Abnormal shape of the frontal region	2201	FBN2	OMIM:121050
HP:0011218	Abnormal shape of the frontal region	4286	MITF	OMIM:617306
HP:0011218	Abnormal shape of the frontal region	120227	CYP2R1	OMIM:600081
HP:0011218	Abnormal shape of the frontal region	120227	CYP2R1	ORPHA:289157
HP:0011218	Abnormal shape of the frontal region	57539	WDR35	ORPHA:1515
HP:0011218	Abnormal shape of the frontal region	57539	WDR35	OMIM:613610
HP:0011218	Abnormal shape of the frontal region	57539	WDR35	ORPHA:93271
HP:0011218	Abnormal shape of the frontal region	112752	IFT43	ORPHA:1515
HP:0011218	Abnormal shape of the frontal region	112752	IFT43	OMIM:614099
HP:0011218	Abnormal shape of the frontal region	51098	IFT52	ORPHA:1515
HP:0011218	Abnormal shape of the frontal region	55764	IFT122	ORPHA:1515
HP:0011218	Abnormal shape of the frontal region	55764	IFT122	OMIM:218330
HP:0011218	Abnormal shape of the frontal region	57728	WDR19	ORPHA:1515
HP:0011218	Abnormal shape of the frontal region	57728	WDR19	OMIM:614378
HP:0011218	Abnormal shape of the frontal region	57231	SNX14	ORPHA:397709
HP:0011218	Abnormal shape of the frontal region	50964	SOST	ORPHA:1513
HP:0011218	Abnormal shape of the frontal region	50964	SOST	OMIM:269500
HP:0011218	Abnormal shape of the frontal region	6660	SOX5	ORPHA:313892
HP:0011218	Abnormal shape of the frontal region	6660	SOX5	OMIM:616803
HP:0011218	Abnormal shape of the frontal region	1896	EDA	OMIM:305100
HP:0011218	Abnormal shape of the frontal region	1896	EDA	ORPHA:181
HP:0011218	Abnormal shape of the frontal region	54	ACP5	OMIM:607944
HP:0011218	Abnormal shape of the frontal region	1513	CTSK	OMIM:265800
HP:0011218	Abnormal shape of the frontal region	1513	CTSK	ORPHA:763
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	OMIM:146000
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	ORPHA:1860
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	OMIM:616482
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	ORPHA:15
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	ORPHA:93274
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	ORPHA:93262
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	OMIM:100800
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	OMIM:187601
HP:0011218	Abnormal shape of the frontal region	2261	FGFR3	OMIM:187600
HP:0011218	Abnormal shape of the frontal region	64359	NXN	OMIM:618529
HP:0011218	Abnormal shape of the frontal region	64359	NXN	ORPHA:1507
HP:0011218	Abnormal shape of the frontal region	4920	ROR2	ORPHA:1507
HP:0011218	Abnormal shape of the frontal region	4920	ROR2	OMIM:268310
HP:0011218	Abnormal shape of the frontal region	5191	PEX7	OMIM:215100
HP:0011218	Abnormal shape of the frontal region	2035	EPB41	ORPHA:288
HP:0011218	Abnormal shape of the frontal region	2995	GYPC	ORPHA:288
HP:0011218	Abnormal shape of the frontal region	6710	SPTB	ORPHA:288
HP:0011218	Abnormal shape of the frontal region	6708	SPTA1	ORPHA:288
HP:0011218	Abnormal shape of the frontal region	10484	SEC23A	OMIM:607812
HP:0011218	Abnormal shape of the frontal region	10484	SEC23A	ORPHA:50814
HP:0011218	Abnormal shape of the frontal region	1105	CHD1	OMIM:617682
HP:0011218	Abnormal shape of the frontal region	1105	CHD1	ORPHA:529965
HP:0011218	Abnormal shape of the frontal region	10815	CPLX1	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	54872	PIGG	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	7469	NELFA	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	1487	CTBP1	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	1487	CTBP1	OMIM:617915
HP:0011218	Abnormal shape of the frontal region	3954	LETM1	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	7468	NSD2	ORPHA:280
HP:0011218	Abnormal shape of the frontal region	1656	DDX6	OMIM:618653
HP:0011218	Abnormal shape of the frontal region	1594	CYP27B1	OMIM:264700
HP:0011218	Abnormal shape of the frontal region	1594	CYP27B1	ORPHA:289157
HP:0011218	Abnormal shape of the frontal region	1301	COL11A1	OMIM:228520
HP:0011218	Abnormal shape of the frontal region	1301	COL11A1	ORPHA:440354
HP:0011218	Abnormal shape of the frontal region	1301	COL11A1	ORPHA:560
HP:0011218	Abnormal shape of the frontal region	80776	B9D2	OMIM:614175
HP:0011218	Abnormal shape of the frontal region	5813	PURA	ORPHA:438216
HP:0011218	Abnormal shape of the frontal region	2783	GNB2	OMIM:619503
HP:0011218	Abnormal shape of the frontal region	6602	SMARCD1	OMIM:618779
HP:0011218	Abnormal shape of the frontal region	55623	THUMPD1	OMIM:619989
HP:0011218	Abnormal shape of the frontal region	26038	CHD5	OMIM:619873
HP:0011218	Abnormal shape of the frontal region	5034	P4HB	OMIM:112240
HP:0011218	Abnormal shape of the frontal region	5034	P4HB	ORPHA:2050
HP:0011218	Abnormal shape of the frontal region	1182	CLCN3	OMIM:619512
HP:0011218	Abnormal shape of the frontal region	3043	HBB	ORPHA:231214
HP:0011218	Abnormal shape of the frontal region	3043	HBB	ORPHA:231226
HP:0011218	Abnormal shape of the frontal region	6905	TBCE	OMIM:241410
HP:0011218	Abnormal shape of the frontal region	3590	IL11RA	OMIM:614188
HP:0011218	Abnormal shape of the frontal region	142680	SLC34A3	OMIM:241530
HP:0011218	Abnormal shape of the frontal region	57167	SALL4	OMIM:147750
HP:0011218	Abnormal shape of the frontal region	5048	PAFAH1B1	ORPHA:217385
HP:0011218	Abnormal shape of the frontal region	7531	YWHAE	ORPHA:217385
HP:0011218	Abnormal shape of the frontal region	3481	IGF2	OMIM:616489
HP:0011218	Abnormal shape of the frontal region	3481	IGF2	OMIM:180860
HP:0011218	Abnormal shape of the frontal region	3481	IGF2	ORPHA:397590
HP:0011218	Abnormal shape of the frontal region	92609	TIMM50	OMIM:617698
HP:0011218	Abnormal shape of the frontal region	3098	HK1	OMIM:618547
HP:0011218	Abnormal shape of the frontal region	5590	PRKCZ	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	2563	GABRD	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	23013	SPEN	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	23013	SPEN	OMIM:619312
HP:0011218	Abnormal shape of the frontal region	8510	MMP23B	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	7798	LUZP1	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	6497	SKI	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	6497	SKI	ORPHA:2462
HP:0011218	Abnormal shape of the frontal region	6497	SKI	OMIM:182212
HP:0011218	Abnormal shape of the frontal region	10630	PDPN	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	3339	HSPG2	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	10277	UBE4B	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	8514	KCNAB2	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	473	RERE	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	473	RERE	ORPHA:494344
HP:0011218	Abnormal shape of the frontal region	473	RERE	OMIM:616975
HP:0011218	Abnormal shape of the frontal region	63976	PRDM16	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	54897	CASZ1	ORPHA:1606
HP:0011218	Abnormal shape of the frontal region	5727	PTCH1	OMIM:610828
HP:0011218	Abnormal shape of the frontal region	5727	PTCH1	ORPHA:377
HP:0011218	Abnormal shape of the frontal region	5727	PTCH1	OMIM:109400
HP:0011218	Abnormal shape of the frontal region	79796	ALG9	ORPHA:79328
HP:0011218	Abnormal shape of the frontal region	79796	ALG9	OMIM:608776
HP:0011218	Abnormal shape of the frontal region	8314	BAP1	OMIM:619762
HP:0011218	Abnormal shape of the frontal region	83479	DDX59	ORPHA:2919
HP:0011218	Abnormal shape of the frontal region	83479	DDX59	OMIM:174300
HP:0011218	Abnormal shape of the frontal region	6942	TCF20	OMIM:618430
HP:0011218	Abnormal shape of the frontal region	9968	MED12	OMIM:305450
HP:0011218	Abnormal shape of the frontal region	9968	MED12	OMIM:309520
HP:0011218	Abnormal shape of the frontal region	2316	FLNA	OMIM:304120
HP:0011218	Abnormal shape of the frontal region	2316	FLNA	ORPHA:2484
HP:0011218	Abnormal shape of the frontal region	2316	FLNA	OMIM:311300
HP:0011218	Abnormal shape of the frontal region	2271	FH	OMIM:606812
HP:0011218	Abnormal shape of the frontal region	4488	MSX2	OMIM:604757
HP:0011218	Abnormal shape of the frontal region	8643	PTCH2	ORPHA:377
HP:0011218	Abnormal shape of the frontal region	51684	SUFU	ORPHA:377
HP:0011218	Abnormal shape of the frontal region	51684	SUFU	OMIM:617757
HP:0011218	Abnormal shape of the frontal region	23556	PIGN	OMIM:614080
HP:0011218	Abnormal shape of the frontal region	23007	PLCH1	OMIM:619895
HP:0011218	Abnormal shape of the frontal region	249	ALPL	OMIM:241510
HP:0011218	Abnormal shape of the frontal region	79989	IFT56	OMIM:619534
HP:0011218	Abnormal shape of the frontal region	84168	ANTXR1	OMIM:230740
HP:0011218	Abnormal shape of the frontal region	84168	ANTXR1	ORPHA:2067
HP:0011218	Abnormal shape of the frontal region	7994	KAT6A	OMIM:616268
HP:0011218	Abnormal shape of the frontal region	2720	GLB1	OMIM:230500
HP:0011218	Abnormal shape of the frontal region	2720	GLB1	ORPHA:79255
HP:0011218	Abnormal shape of the frontal region	3930	LBR	OMIM:169400
HP:0011218	Abnormal shape of the frontal region	3930	LBR	OMIM:618019
HP:0011218	Abnormal shape of the frontal region	1107	CHD3	OMIM:618205
HP:0011218	Abnormal shape of the frontal region	2317	FLNB	OMIM:272460
HP:0011218	Abnormal shape of the frontal region	2317	FLNB	OMIM:108721
HP:0011218	Abnormal shape of the frontal region	2317	FLNB	OMIM:108720
HP:0011218	Abnormal shape of the frontal region	2317	FLNB	OMIM:150250
HP:0011218	Abnormal shape of the frontal region	1749	DLX5	OMIM:220600
HP:0011218	Abnormal shape of the frontal region	27077	B9D1	OMIM:617120
HP:0011218	Abnormal shape of the frontal region	9742	IFT140	OMIM:266920
HP:0011218	Abnormal shape of the frontal region	60529	ALX4	ORPHA:228390
HP:0011218	Abnormal shape of the frontal region	60529	ALX4	ORPHA:35093
HP:0011218	Abnormal shape of the frontal region	26173	INTS1	OMIM:618571
HP:0011218	Abnormal shape of the frontal region	1523	CUX1	OMIM:618330
HP:0011218	Abnormal shape of the frontal region	5587	PRKD1	OMIM:617364
HP:0011218	Abnormal shape of the frontal region	5426	POLE	OMIM:618336
HP:0011218	Abnormal shape of the frontal region	5426	POLE	ORPHA:85173
HP:0011218	Abnormal shape of the frontal region	7227	TRPS1	ORPHA:77258
HP:0011218	Abnormal shape of the frontal region	4921	DDR2	OMIM:271665
HP:0011218	Abnormal shape of the frontal region	8925	HERC1	OMIM:617011
HP:0011218	Abnormal shape of the frontal region	54892	NCAPG2	OMIM:618460
HP:0011218	Abnormal shape of the frontal region	23314	SATB2	ORPHA:251028
HP:0011218	Abnormal shape of the frontal region	23314	SATB2	OMIM:612313
HP:0011218	Abnormal shape of the frontal region	51259	TMEM216	OMIM:608091
HP:0011218	Abnormal shape of the frontal region	51259	TMEM216	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	1277	COL1A1	OMIM:259420
HP:0011218	Abnormal shape of the frontal region	1278	COL1A2	OMIM:259420
HP:0011218	Abnormal shape of the frontal region	2263	FGFR2	OMIM:123500
HP:0011218	Abnormal shape of the frontal region	2263	FGFR2	ORPHA:207
HP:0011218	Abnormal shape of the frontal region	2263	FGFR2	ORPHA:87
HP:0011218	Abnormal shape of the frontal region	2263	FGFR2	OMIM:207410
HP:0011218	Abnormal shape of the frontal region	2263	FGFR2	ORPHA:1540
HP:0011218	Abnormal shape of the frontal region	7707	ZNF148	OMIM:617260
HP:0011218	Abnormal shape of the frontal region	29887	SNX10	OMIM:615085
HP:0011218	Abnormal shape of the frontal region	5515	PPP2CA	OMIM:618354
HP:0011218	Abnormal shape of the frontal region	1747	DLX3	OMIM:190320
HP:0011218	Abnormal shape of the frontal region	1747	DLX3	ORPHA:3352
HP:0011218	Abnormal shape of the frontal region	9871	SEC24D	OMIM:616294
HP:0011218	Abnormal shape of the frontal region	9871	SEC24D	ORPHA:2050
HP:0011218	Abnormal shape of the frontal region	29998	BICRA	OMIM:619325
HP:0011218	Abnormal shape of the frontal region	6651	SON	OMIM:617140
HP:0011218	Abnormal shape of the frontal region	6651	SON	ORPHA:500150
HP:0011218	Abnormal shape of the frontal region	4952	OCRL	ORPHA:534
HP:0011218	Abnormal shape of the frontal region	2710	GK	OMIM:307030
HP:0011218	Abnormal shape of the frontal region	9126	SMC3	OMIM:610759
HP:0011218	Abnormal shape of the frontal region	55777	MBD5	OMIM:156200
HP:0011218	Abnormal shape of the frontal region	4784	NFIX	OMIM:602535
HP:0011218	Abnormal shape of the frontal region	4784	NFIX	ORPHA:420179
HP:0011218	Abnormal shape of the frontal region	3039	HBA1	ORPHA:98791
HP:0011218	Abnormal shape of the frontal region	3040	HBA2	ORPHA:98791
HP:0011218	Abnormal shape of the frontal region	4998	ORC1	OMIM:224690
HP:0011218	Abnormal shape of the frontal region	4125	MAN2B1	OMIM:248500
HP:0011218	Abnormal shape of the frontal region	54496	PRMT7	OMIM:617157
HP:0011218	Abnormal shape of the frontal region	10082	GPC6	OMIM:258315
HP:0011218	Abnormal shape of the frontal region	10082	GPC6	ORPHA:93329
HP:0011218	Abnormal shape of the frontal region	5831	PYCR1	OMIM:612940
HP:0011218	Abnormal shape of the frontal region	2077	ERF	ORPHA:207
HP:0011218	Abnormal shape of the frontal region	2077	ERF	ORPHA:35093
HP:0011218	Abnormal shape of the frontal region	116442	RAB39B	OMIM:311510
HP:0011218	Abnormal shape of the frontal region	116442	RAB39B	ORPHA:2379
HP:0011218	Abnormal shape of the frontal region	7703	PCGF2	OMIM:618371
HP:0011218	Abnormal shape of the frontal region	23258	DENND5A	OMIM:617281
HP:0011218	Abnormal shape of the frontal region	9496	TBX4	ORPHA:261279
HP:0011218	Abnormal shape of the frontal region	8091	HMGA2	ORPHA:94063
HP:0011218	Abnormal shape of the frontal region	8091	HMGA2	ORPHA:397590
HP:0011218	Abnormal shape of the frontal region	23592	LEMD3	ORPHA:94063
HP:0011218	Abnormal shape of the frontal region	10013	HDAC6	OMIM:300863
HP:0011218	Abnormal shape of the frontal region	10013	HDAC6	ORPHA:163966
HP:0011218	Abnormal shape of the frontal region	633	BGN	OMIM:300989
HP:0011218	Abnormal shape of the frontal region	164	AP1G1	OMIM:619467
HP:0011218	Abnormal shape of the frontal region	3977	LIFR	OMIM:601559
HP:0011218	Abnormal shape of the frontal region	26040	SETBP1	OMIM:616078
HP:0011218	Abnormal shape of the frontal region	26040	SETBP1	ORPHA:798
HP:0011218	Abnormal shape of the frontal region	5144	PDE4D	ORPHA:439822
HP:0011218	Abnormal shape of the frontal region	2475	MTOR	ORPHA:457485
HP:0011218	Abnormal shape of the frontal region	2475	MTOR	OMIM:616638
HP:0011218	Abnormal shape of the frontal region	23384	SPECC1L	OMIM:145420
HP:0011218	Abnormal shape of the frontal region	4990	SIX6	OMIM:206900
HP:0011218	Abnormal shape of the frontal region	6657	SOX2	OMIM:206900
HP:0011218	Abnormal shape of the frontal region	9321	TRIP11	ORPHA:166272
HP:0011218	Abnormal shape of the frontal region	9321	TRIP11	ORPHA:93299
HP:0011218	Abnormal shape of the frontal region	9791	PTDSS1	OMIM:151050
HP:0011218	Abnormal shape of the frontal region	4882	NPR2	OMIM:602875
HP:0011218	Abnormal shape of the frontal region	4882	NPR2	ORPHA:40
HP:0011218	Abnormal shape of the frontal region	9851	KIAA0753	OMIM:619476
HP:0011218	Abnormal shape of the frontal region	9851	KIAA0753	OMIM:619479
HP:0011218	Abnormal shape of the frontal region	9851	KIAA0753	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	57498	KIDINS220	OMIM:617296
HP:0011218	Abnormal shape of the frontal region	10526	IPO8	OMIM:619472
HP:0011218	Abnormal shape of the frontal region	145173	B3GLCT	OMIM:261540
HP:0011218	Abnormal shape of the frontal region	145173	B3GLCT	ORPHA:709
HP:0011218	Abnormal shape of the frontal region	1387	CREBBP	OMIM:180849
HP:0011218	Abnormal shape of the frontal region	2033	EP300	OMIM:180849
HP:0011218	Abnormal shape of the frontal region	79005	SCNM1	OMIM:620107
HP:0011218	Abnormal shape of the frontal region	10283	CWC27	OMIM:250410
HP:0011218	Abnormal shape of the frontal region	10283	CWC27	ORPHA:166035
HP:0011218	Abnormal shape of the frontal region	4796	TONSL	OMIM:271510
HP:0011218	Abnormal shape of the frontal region	4796	TONSL	ORPHA:93357
HP:0011218	Abnormal shape of the frontal region	526	ATP6V1B2	ORPHA:79500
HP:0011218	Abnormal shape of the frontal region	57465	TBC1D24	ORPHA:79500
HP:0011218	Abnormal shape of the frontal region	11198	SUPT16H	OMIM:619480
HP:0011218	Abnormal shape of the frontal region	2887	GRB10	ORPHA:96182
HP:0011218	Abnormal shape of the frontal region	84172	POLR1B	ORPHA:861
HP:0011218	Abnormal shape of the frontal region	9533	POLR1C	ORPHA:861
HP:0011218	Abnormal shape of the frontal region	51082	POLR1D	ORPHA:861
HP:0011218	Abnormal shape of the frontal region	6949	TCOF1	ORPHA:861
HP:0011218	Abnormal shape of the frontal region	23405	DICER1	OMIM:618272
HP:0011218	Abnormal shape of the frontal region	55210	ATAD3A	OMIM:617183
HP:0011218	Abnormal shape of the frontal region	1298	COL9A2	OMIM:600204
HP:0011218	Abnormal shape of the frontal region	3636	INPPL1	OMIM:258480
HP:0011218	Abnormal shape of the frontal region	3636	INPPL1	ORPHA:2746
HP:0011218	Abnormal shape of the frontal region	4841	NONO	OMIM:300967
HP:0011218	Abnormal shape of the frontal region	4841	NONO	ORPHA:466791
HP:0011218	Abnormal shape of the frontal region	8567	MADD	OMIM:619005
HP:0011218	Abnormal shape of the frontal region	5058	PAK1	OMIM:618158
HP:0011218	Abnormal shape of the frontal region	10651	MTX2	OMIM:619127
HP:0011218	Abnormal shape of the frontal region	29123	ANKRD11	ORPHA:261250
HP:0011218	Abnormal shape of the frontal region	25839	COG4	ORPHA:85172
HP:0011218	Abnormal shape of the frontal region	64093	SMOC1	OMIM:206920
HP:0011218	Abnormal shape of the frontal region	64093	SMOC1	ORPHA:1106
HP:0011218	Abnormal shape of the frontal region	1028	CDKN1C	ORPHA:85173
HP:0011218	Abnormal shape of the frontal region	1028	CDKN1C	ORPHA:397590
HP:0011218	Abnormal shape of the frontal region	2799	GNS	OMIM:252940
HP:0011218	Abnormal shape of the frontal region	55599	RNPC3	OMIM:618160
HP:0011218	Abnormal shape of the frontal region	23387	SIK3	OMIM:618162
HP:0011218	Abnormal shape of the frontal region	6904	TBCD	OMIM:617193
HP:0011218	Abnormal shape of the frontal region	5528	PPP2R5D	ORPHA:457279
HP:0011218	Abnormal shape of the frontal region	1984	EIF5A	OMIM:619376
HP:0011218	Abnormal shape of the frontal region	89970	RSPRY1	ORPHA:457395
HP:0011218	Abnormal shape of the frontal region	89970	RSPRY1	OMIM:616723
HP:0011218	Abnormal shape of the frontal region	9487	PIGL	OMIM:280000
HP:0011218	Abnormal shape of the frontal region	8481	OFD1	OMIM:300804
HP:0011218	Abnormal shape of the frontal region	8481	OFD1	OMIM:311200
HP:0011218	Abnormal shape of the frontal region	8481	OFD1	ORPHA:2750
HP:0011218	Abnormal shape of the frontal region	8481	OFD1	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	5557	PRIM1	OMIM:620005
HP:0011218	Abnormal shape of the frontal region	3295	HSD17B4	OMIM:261515
HP:0011218	Abnormal shape of the frontal region	83737	ITCH	ORPHA:228426
HP:0011218	Abnormal shape of the frontal region	83737	ITCH	OMIM:613385
HP:0011218	Abnormal shape of the frontal region	7474	WNT5A	OMIM:180700
HP:0011218	Abnormal shape of the frontal region	7474	WNT5A	ORPHA:3107
HP:0011218	Abnormal shape of the frontal region	9897	WASHC5	ORPHA:7
HP:0011218	Abnormal shape of the frontal region	28952	CCDC22	ORPHA:7
HP:0011218	Abnormal shape of the frontal region	6913	TBX15	OMIM:260660
HP:0011218	Abnormal shape of the frontal region	6913	TBX15	ORPHA:93333
HP:0011218	Abnormal shape of the frontal region	55181	SMG8	OMIM:619268
HP:0011218	Abnormal shape of the frontal region	27161	AGO2	OMIM:619149
HP:0011218	Abnormal shape of the frontal region	284361	EMC10	OMIM:619264
HP:0011218	Abnormal shape of the frontal region	374654	KIF7	ORPHA:166024
HP:0011218	Abnormal shape of the frontal region	374654	KIF7	OMIM:200990
HP:0011218	Abnormal shape of the frontal region	374654	KIF7	OMIM:607131
HP:0011218	Abnormal shape of the frontal region	374654	KIF7	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	7421	VDR	ORPHA:93160
HP:0011218	Abnormal shape of the frontal region	7421	VDR	OMIM:277440
HP:0011218	Abnormal shape of the frontal region	55503	TRPV6	OMIM:618188
HP:0011218	Abnormal shape of the frontal region	10312	TCIRG1	OMIM:259700
HP:0011218	Abnormal shape of the frontal region	775	CACNA1C	OMIM:620029
HP:0011218	Abnormal shape of the frontal region	5447	POR	ORPHA:95699
HP:0011218	Abnormal shape of the frontal region	5447	POR	OMIM:201750
HP:0011218	Abnormal shape of the frontal region	5447	POR	OMIM:207410
HP:0011218	Abnormal shape of the frontal region	9401	RECQL4	OMIM:268400
HP:0011218	Abnormal shape of the frontal region	9401	RECQL4	ORPHA:1225
HP:0011218	Abnormal shape of the frontal region	4983	OPHN1	OMIM:300486
HP:0011218	Abnormal shape of the frontal region	4774	NFIA	ORPHA:401986
HP:0011218	Abnormal shape of the frontal region	55112	DYNC2I1	ORPHA:93271
HP:0011218	Abnormal shape of the frontal region	57560	IFT80	ORPHA:93271
HP:0011218	Abnormal shape of the frontal region	79659	DYNC2H1	ORPHA:93271
HP:0011218	Abnormal shape of the frontal region	89891	DYNC2I2	ORPHA:93271
HP:0011218	Abnormal shape of the frontal region	4281	MID1	OMIM:300000
HP:0011218	Abnormal shape of the frontal region	9442	MED27	OMIM:619286
HP:0011218	Abnormal shape of the frontal region	2314	FLII	ORPHA:819
HP:0011218	Abnormal shape of the frontal region	23096	IQSEC2	ORPHA:819
HP:0011218	Abnormal shape of the frontal region	10743	RAI1	ORPHA:819
HP:0011218	Abnormal shape of the frontal region	10522	DEAF1	ORPHA:819
HP:0011218	Abnormal shape of the frontal region	10522	DEAF1	OMIM:615828
HP:0011218	Abnormal shape of the frontal region	6662	SOX9	OMIM:114290
HP:0011218	Abnormal shape of the frontal region	5744	PTHLH	ORPHA:93387
HP:0011218	Abnormal shape of the frontal region	3239	HOXD13	ORPHA:93387
HP:0011218	Abnormal shape of the frontal region	4758	NEU1	ORPHA:812
HP:0011218	Abnormal shape of the frontal region	150468	CKAP2L	ORPHA:3255
HP:0011218	Abnormal shape of the frontal region	4038	LRP4	ORPHA:3258
HP:0011218	Abnormal shape of the frontal region	4038	LRP4	OMIM:614305
HP:0011218	Abnormal shape of the frontal region	324	APC	ORPHA:3258
HP:0011218	Abnormal shape of the frontal region	6595	SMARCA2	OMIM:619293
HP:0011218	Abnormal shape of the frontal region	51360	MBTPS2	ORPHA:2273
HP:0011218	Abnormal shape of the frontal region	57492	ARID1B	OMIM:135900
HP:0011218	Abnormal shape of the frontal region	64324	NSD1	OMIM:117550
HP:0011218	Abnormal shape of the frontal region	672	BRCA1	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	10459	MAD2L2	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	7516	XRCC2	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	29089	UBE2T	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	675	BRCA2	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	55120	FANCL	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2177	FANCD2	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2175	FANCA	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2187	FANCB	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2176	FANCC	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2178	FANCE	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2188	FANCF	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2189	FANCG	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	5888	RAD51	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	5889	RAD51C	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	55159	RFWD3	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	83990	BRIP1	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	57697	FANCM	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	79728	PALB2	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	84464	SLX4	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	2072	ERCC4	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	55215	FANCI	ORPHA:84
HP:0011218	Abnormal shape of the frontal region	83550	GPR101	ORPHA:963
HP:0011218	Abnormal shape of the frontal region	9049	AIP	ORPHA:963
HP:0011218	Abnormal shape of the frontal region	9049	AIP	ORPHA:99725
HP:0011218	Abnormal shape of the frontal region	23116	TOGARAM1	OMIM:619185
HP:0011218	Abnormal shape of the frontal region	9377	COX5A	OMIM:619064
HP:0011218	Abnormal shape of the frontal region	9839	ZEB2	ORPHA:261552
HP:0011218	Abnormal shape of the frontal region	1327	COX4I1	OMIM:619060
HP:0011218	Abnormal shape of the frontal region	860	RUNX2	OMIM:119600
HP:0011218	Abnormal shape of the frontal region	860	RUNX2	ORPHA:1452
HP:0011218	Abnormal shape of the frontal region	9184	BUB3	ORPHA:1052
HP:0011218	Abnormal shape of the frontal region	699	BUB1	ORPHA:1052
HP:0011218	Abnormal shape of the frontal region	9702	CEP57	ORPHA:1052
HP:0011218	Abnormal shape of the frontal region	9702	CEP57	OMIM:614114
HP:0011218	Abnormal shape of the frontal region	9319	TRIP13	ORPHA:1052
HP:0011218	Abnormal shape of the frontal region	701	BUB1B	ORPHA:1052
HP:0011218	Abnormal shape of the frontal region	10682	EBP	ORPHA:35173
HP:0011218	Abnormal shape of the frontal region	10682	EBP	OMIM:302960
HP:0011218	Abnormal shape of the frontal region	4591	TRIM37	OMIM:253250
HP:0011218	Abnormal shape of the frontal region	1954	MEGF8	OMIM:614976
HP:0011218	Abnormal shape of the frontal region	4338	MOCS2	OMIM:252160
HP:0011218	Abnormal shape of the frontal region	657	BMPR1A	ORPHA:79076
HP:0011218	Abnormal shape of the frontal region	25942	SIN3A	OMIM:613406
HP:0011218	Abnormal shape of the frontal region	3425	IDUA	OMIM:607014
HP:0011218	Abnormal shape of the frontal region	3425	IDUA	ORPHA:93473
HP:0011218	Abnormal shape of the frontal region	6197	RPS6KA3	ORPHA:276630
HP:0011218	Abnormal shape of the frontal region	6197	RPS6KA3	ORPHA:192
HP:0011218	Abnormal shape of the frontal region	2697	GJA1	OMIM:257850
HP:0011218	Abnormal shape of the frontal region	3192	HNRNPU	ORPHA:238769
HP:0011218	Abnormal shape of the frontal region	5251	PHEX	ORPHA:89936
HP:0011218	Abnormal shape of the frontal region	5251	PHEX	OMIM:307800
HP:0011218	Abnormal shape of the frontal region	1857	DVL3	ORPHA:3107
HP:0011218	Abnormal shape of the frontal region	1857	DVL3	OMIM:616894
HP:0011218	Abnormal shape of the frontal region	2535	FZD2	ORPHA:3107
HP:0011218	Abnormal shape of the frontal region	2535	FZD2	OMIM:164745
HP:0011218	Abnormal shape of the frontal region	2535	FZD2	ORPHA:93328
HP:0011218	Abnormal shape of the frontal region	2332	FMR1	ORPHA:908
HP:0011218	Abnormal shape of the frontal region	5290	PIK3CA	ORPHA:60040
HP:0011218	Abnormal shape of the frontal region	285175	UNC80	OMIM:616801
HP:0011218	Abnormal shape of the frontal region	285175	UNC80	ORPHA:371364
HP:0011218	Abnormal shape of the frontal region	11128	POLR3A	OMIM:264090
HP:0011218	Abnormal shape of the frontal region	11128	POLR3A	ORPHA:3455
HP:0011218	Abnormal shape of the frontal region	23137	SMC5	OMIM:620185
HP:0011218	Abnormal shape of the frontal region	57459	GATAD2B	ORPHA:363686
HP:0011218	Abnormal shape of the frontal region	728294	D2HGDH	OMIM:600721
HP:0011218	Abnormal shape of the frontal region	6774	STAT3	OMIM:147060
HP:0011218	Abnormal shape of the frontal region	5159	PDGFRB	OMIM:601812
HP:0011218	Abnormal shape of the frontal region	5324	PLAG1	ORPHA:397590
HP:0011218	Abnormal shape of the frontal region	182	JAG1	OMIM:118450
HP:0011218	Abnormal shape of the frontal region	5832	ALDH18A1	OMIM:219150
HP:0011218	Abnormal shape of the frontal region	4221	MEN1	ORPHA:99725
HP:0011218	Abnormal shape of the frontal region	471	ATIC	OMIM:608688
HP:0011218	Abnormal shape of the frontal region	388015	RTL1	ORPHA:96334
HP:0011218	Abnormal shape of the frontal region	8788	DLK1	ORPHA:96334
HP:0011218	Abnormal shape of the frontal region	55384	MEG3	ORPHA:96334
HP:0011218	Abnormal shape of the frontal region	114548	NLRP3	OMIM:607115
HP:0011218	Abnormal shape of the frontal region	114548	NLRP3	ORPHA:1451
HP:0011218	Abnormal shape of the frontal region	5295	PIK3R1	OMIM:269880
HP:0011218	Abnormal shape of the frontal region	254065	BRWD3	OMIM:300659
HP:0011218	Abnormal shape of the frontal region	9652	SKIC3	OMIM:222470
HP:0011218	Abnormal shape of the frontal region	10661	KLF1	OMIM:613673
HP:0011218	Abnormal shape of the frontal region	729920	CRPPA	OMIM:614643
HP:0011218	Abnormal shape of the frontal region	1302	COL11A2	OMIM:614524
HP:0011218	Abnormal shape of the frontal region	1836	SLC26A2	ORPHA:93298
HP:0011218	Abnormal shape of the frontal region	4313	MMP2	OMIM:259600
HP:0011218	Abnormal shape of the frontal region	1186	CLCN7	ORPHA:53
HP:0011218	Abnormal shape of the frontal region	91252	SLC39A13	OMIM:612350
HP:0011218	Abnormal shape of the frontal region	2702	GJA5	OMIM:612474
HP:0011218	Abnormal shape of the frontal region	2703	GJA8	OMIM:612474
HP:0011218	Abnormal shape of the frontal region	867	CBL	OMIM:613563
HP:0011218	Abnormal shape of the frontal region	51025	PAM16	OMIM:613320
HP:0011218	Abnormal shape of the frontal region	27152	INTU	OMIM:617925
HP:0011218	Abnormal shape of the frontal region	51053	GMNN	OMIM:616835
HP:0011218	Abnormal shape of the frontal region	2200	FBN1	ORPHA:2462
HP:0011218	Abnormal shape of the frontal region	196528	ARID2	OMIM:617808
HP:0011218	Abnormal shape of the frontal region	8260	NAA10	ORPHA:276432
HP:0011218	Abnormal shape of the frontal region	3720	JARID2	OMIM:620098
HP:0011218	Abnormal shape of the frontal region	132	ADK	OMIM:614300
HP:0011218	Abnormal shape of the frontal region	9759	HDAC4	ORPHA:1001
HP:0011218	Abnormal shape of the frontal region	11133	KPTN	OMIM:615637
HP:0011218	Abnormal shape of the frontal region	11133	KPTN	ORPHA:397612
HP:0011218	Abnormal shape of the frontal region	23028	KDM1A	OMIM:616728
HP:0011218	Abnormal shape of the frontal region	79650	USB1	OMIM:604173
HP:0011218	Abnormal shape of the frontal region	5160	PDHA1	OMIM:312170
HP:0011218	Abnormal shape of the frontal region	4792	NFKBIA	OMIM:612132
HP:0011218	Abnormal shape of the frontal region	2902	GRIN1	OMIM:617820
HP:0011218	Abnormal shape of the frontal region	10735	STAG2	OMIM:301022
HP:0011218	Abnormal shape of the frontal region	5604	MAP2K1	ORPHA:1340
HP:0011218	Abnormal shape of the frontal region	5605	MAP2K2	ORPHA:1340
HP:0011218	Abnormal shape of the frontal region	673	BRAF	ORPHA:1340
HP:0011218	Abnormal shape of the frontal region	29940	DSE	OMIM:615539
HP:0011218	Abnormal shape of the frontal region	8517	IKBKG	OMIM:300291
HP:0011218	Abnormal shape of the frontal region	1000	CDH2	OMIM:618929
HP:0011218	Abnormal shape of the frontal region	176	ACAN	OMIM:165800
HP:0011218	Abnormal shape of the frontal region	3758	KCNJ1	OMIM:241200
HP:0011218	Abnormal shape of the frontal region	25	ABL1	OMIM:617602
HP:0011218	Abnormal shape of the frontal region	4041	LRP5	ORPHA:2788
HP:0011218	Abnormal shape of the frontal region	54551	MAGEL2	OMIM:615547
HP:0011218	Abnormal shape of the frontal region	9419	CRIPT	OMIM:615789
HP:0011218	Abnormal shape of the frontal region	139285	AMER1	ORPHA:2780
HP:0011218	Abnormal shape of the frontal region	139285	AMER1	OMIM:300373
HP:0011218	Abnormal shape of the frontal region	55644	OSGEP	OMIM:617729
HP:0011218	Abnormal shape of the frontal region	2313	FLI1	ORPHA:2308
HP:0011218	Abnormal shape of the frontal region	2517	FUCA1	OMIM:230000
HP:0011218	Abnormal shape of the frontal region	7204	TRIO	OMIM:618825
HP:0011218	Abnormal shape of the frontal region	4337	MOCS1	OMIM:252150
HP:0011218	Abnormal shape of the frontal region	51520	LARS1	OMIM:615438
HP:0011218	Abnormal shape of the frontal region	4329	ALDH6A1	OMIM:614105
HP:0011218	Abnormal shape of the frontal region	259232	NALCN	ORPHA:371364
HP:0011218	Abnormal shape of the frontal region	7040	TGFB1	ORPHA:1328
HP:0011218	Abnormal shape of the frontal region	5293	PIK3CD	ORPHA:221139
HP:0011218	Abnormal shape of the frontal region	90417	KNSTRN	ORPHA:221139
HP:0011218	Abnormal shape of the frontal region	8405	SPOP	OMIM:618829
HP:0011218	Abnormal shape of the frontal region	23545	ATP6V0A2	OMIM:219200
HP:0011218	Abnormal shape of the frontal region	128178	EDARADD	OMIM:224900
HP:0011218	Abnormal shape of the frontal region	10913	EDAR	OMIM:224900
HP:0011218	Abnormal shape of the frontal region	284252	KCTD1	OMIM:181270
HP:0011218	Abnormal shape of the frontal region	60401	EDA2R	ORPHA:181
HP:0011218	Abnormal shape of the frontal region	5500	PPP1CB	OMIM:617506
HP:0011218	Abnormal shape of the frontal region	6519	SLC3A1	ORPHA:163690
HP:0011218	Abnormal shape of the frontal region	6519	SLC3A1	ORPHA:163693
HP:0011218	Abnormal shape of the frontal region	9581	PREPL	ORPHA:163690
HP:0011218	Abnormal shape of the frontal region	9581	PREPL	ORPHA:163693
HP:0011218	Abnormal shape of the frontal region	84628	NTNG2	OMIM:618718
HP:0011218	Abnormal shape of the frontal region	113246	C12orf57	OMIM:218340
HP:0011218	Abnormal shape of the frontal region	5495	PPM1B	ORPHA:163693
HP:0011218	Abnormal shape of the frontal region	79823	CAMKMT	ORPHA:163693
HP:0011218	Abnormal shape of the frontal region	51	ACOX1	OMIM:264470
HP:0011218	Abnormal shape of the frontal region	5296	PIK3R2	OMIM:603387
HP:0011218	Abnormal shape of the frontal region	126792	B3GALT6	ORPHA:536467
HP:0011218	Abnormal shape of the frontal region	126792	B3GALT6	OMIM:615349
HP:0011218	Abnormal shape of the frontal region	23247	KATNIP	OMIM:616784
HP:0011218	Abnormal shape of the frontal region	10020	GNE	OMIM:269921
HP:0011218	Abnormal shape of the frontal region	8777	MPDZ	OMIM:615219
HP:0011218	Abnormal shape of the frontal region	5449	POU1F1	OMIM:613038
HP:0011218	Abnormal shape of the frontal region	23389	MED13L	OMIM:616789
HP:0011218	Abnormal shape of the frontal region	9757	KMT2B	OMIM:619934
HP:0011218	Abnormal shape of the frontal region	10210	TOPORS	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	26123	TCTN3	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	5147	PDE6D	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	65250	CPLANE1	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	317662	FAM149B1	ORPHA:2754
HP:0011218	Abnormal shape of the frontal region	9469	CHST3	OMIM:245600
HP:0011218	Abnormal shape of the frontal region	26229	B3GAT3	OMIM:245600
HP:0011218	Abnormal shape of the frontal region	1280	COL2A1	OMIM:200610
HP:0011218	Abnormal shape of the frontal region	2036	EPB41L1	OMIM:614257
HP:0011218	Abnormal shape of the frontal region	10736	SIX2	ORPHA:488437
HP:0011218	Abnormal shape of the frontal region	8398	PLA2G6	OMIM:256600
HP:0011218	Abnormal shape of the frontal region	2260	FGFR1	OMIM:615465
HP:0011218	Abnormal shape of the frontal region	4524	MTHFR	ORPHA:563612
HP:0011218	Abnormal shape of the frontal region	57216	VANGL2	ORPHA:563612
HP:0011218	Abnormal shape of the frontal region	8092	ALX1	ORPHA:306542
HP:0011219	Short face	7314	UBB	ORPHA:99772
HP:0011219	Short face	57822	GRHL3	ORPHA:99772
HP:0011219	Short face	84172	POLR1B	ORPHA:861
HP:0011219	Short face	9533	POLR1C	ORPHA:861
HP:0011219	Short face	51082	POLR1D	ORPHA:861
HP:0011219	Short face	6949	TCOF1	ORPHA:861
HP:0011219	Short face	860	RUNX2	ORPHA:1452
HP:0011219	Short face	2260	FGFR1	ORPHA:99798
HP:0011219	Short face	4487	MSX1	ORPHA:99798
HP:0011219	Short face	128178	EDARADD	ORPHA:99798
HP:0011219	Short face	5083	PAX9	ORPHA:99798
HP:0011219	Short face	7341	SUMO1	ORPHA:99798
HP:0011219	Short face	80326	WNT10A	ORPHA:99798
HP:0011219	Short face	1896	EDA	ORPHA:99798
HP:0011219	Short face	8313	AXIN2	ORPHA:99798
HP:0011219	Short face	3664	IRF6	ORPHA:99798
HP:0011219	Short face	4040	LRP6	ORPHA:99798
HP:0011219	Short face	7039	TGFA	ORPHA:99798
HP:0011219	Short face	7480	WNT10B	ORPHA:99798
HP:0000288	Abnormality of the philtrum	10815	CPLX1	ORPHA:280
HP:0000288	Abnormality of the philtrum	54872	PIGG	ORPHA:280
HP:0000288	Abnormality of the philtrum	7469	NELFA	ORPHA:280
HP:0000288	Abnormality of the philtrum	1487	CTBP1	ORPHA:280
HP:0000288	Abnormality of the philtrum	3954	LETM1	ORPHA:280
HP:0000288	Abnormality of the philtrum	7468	NSD2	ORPHA:280
HP:0000288	Abnormality of the philtrum	83479	DDX59	ORPHA:2919
HP:0000288	Abnormality of the philtrum	5818	NECTIN1	OMIM:225060
HP:0000288	Abnormality of the philtrum	54551	MAGEL2	OMIM:615547
HP:0000288	Abnormality of the philtrum	84992	PIGY	ORPHA:247262
HP:0000288	Abnormality of the philtrum	84720	PIGO	ORPHA:247262
HP:0000288	Abnormality of the philtrum	93210	PGAP3	ORPHA:247262
HP:0000288	Abnormality of the philtrum	284098	PIGW	ORPHA:247262
HP:0000288	Abnormality of the philtrum	27315	PGAP2	ORPHA:247262
HP:0000288	Abnormality of the philtrum	55650	PIGV	ORPHA:247262
HP:0000288	Abnormality of the philtrum	9487	PIGL	ORPHA:247262
HP:0000288	Abnormality of the philtrum	5977	DPF2	OMIM:618027
HP:0000288	Abnormality of the philtrum	5977	DPF2	ORPHA:1465
HP:0000288	Abnormality of the philtrum	60529	ALX4	OMIM:613451
HP:0000288	Abnormality of the philtrum	60529	ALX4	ORPHA:228390
HP:0000288	Abnormality of the philtrum	6659	SOX4	ORPHA:1465
HP:0000288	Abnormality of the philtrum	6601	SMARCC2	ORPHA:1465
HP:0000288	Abnormality of the philtrum	6602	SMARCD1	ORPHA:1465
HP:0000288	Abnormality of the philtrum	6605	SMARCE1	ORPHA:1465
HP:0000288	Abnormality of the philtrum	6664	SOX11	ORPHA:1465
HP:0000288	Abnormality of the philtrum	55107	ANO1	OMIM:620045
HP:0000288	Abnormality of the philtrum	8085	KMT2D	OMIM:620186
HP:0000288	Abnormality of the philtrum	78989	COLEC11	OMIM:265050
HP:0000288	Abnormality of the philtrum	51305	KCNK9	ORPHA:166108
HP:0000288	Abnormality of the philtrum	54499	TMCO1	ORPHA:1394
HP:0000288	Abnormality of the philtrum	55780	ERMARD	ORPHA:75857
HP:0000288	Abnormality of the philtrum	58499	ZNF462	OMIM:618619
HP:0000288	Abnormality of the philtrum	11253	MAN1B1	ORPHA:397941
HP:0000288	Abnormality of the philtrum	11253	MAN1B1	OMIM:614202
HP:0000288	Abnormality of the philtrum	50651	SLC45A1	OMIM:617532
HP:0000288	Abnormality of the philtrum	9578	CDC42BPB	OMIM:619841
HP:0000288	Abnormality of the philtrum	613	BCR	ORPHA:261330
HP:0000288	Abnormality of the philtrum	1399	CRKL	ORPHA:261330
HP:0000288	Abnormality of the philtrum	89910	UBE3B	OMIM:244450
HP:0000288	Abnormality of the philtrum	89910	UBE3B	ORPHA:2707
HP:0000288	Abnormality of the philtrum	55690	PACS1	OMIM:615009
HP:0000288	Abnormality of the philtrum	55690	PACS1	ORPHA:329224
HP:0000288	Abnormality of the philtrum	129563	DIS3L2	ORPHA:2849
HP:0000288	Abnormality of the philtrum	10472	ZBTB18	ORPHA:36367
HP:0000288	Abnormality of the philtrum	10472	ZBTB18	OMIM:612337
HP:0000288	Abnormality of the philtrum	56992	KIF15	ORPHA:261323
HP:0000288	Abnormality of the philtrum	83696	TRAPPC9	OMIM:613192
HP:0000288	Abnormality of the philtrum	55870	ASH1L	OMIM:617796
HP:0000288	Abnormality of the philtrum	3899	AFF3	OMIM:619297
HP:0000288	Abnormality of the philtrum	10087	CERT1	OMIM:616351
HP:0000288	Abnormality of the philtrum	22884	WDR37	OMIM:618652
HP:0000288	Abnormality of the philtrum	1193	CLIC2	ORPHA:324410
HP:0000288	Abnormality of the philtrum	1656	DDX6	OMIM:618653
HP:0000288	Abnormality of the philtrum	23036	ZNF292	OMIM:619188
HP:0000288	Abnormality of the philtrum	26057	ANKRD17	OMIM:619504
HP:0000288	Abnormality of the philtrum	55623	THUMPD1	OMIM:619989
HP:0000288	Abnormality of the philtrum	3192	HNRNPU	ORPHA:238769
HP:0000288	Abnormality of the philtrum	5792	PTPRF	OMIM:616001
HP:0000288	Abnormality of the philtrum	285175	UNC80	OMIM:616801
HP:0000288	Abnormality of the philtrum	285175	UNC80	ORPHA:371364
HP:0000288	Abnormality of the philtrum	3211	HOXB1	OMIM:614744
HP:0000288	Abnormality of the philtrum	285362	SUMF1	ORPHA:585
HP:0000288	Abnormality of the philtrum	79718	TBL1XR1	OMIM:602342
HP:0000288	Abnormality of the philtrum	79718	TBL1XR1	ORPHA:487825
HP:0000288	Abnormality of the philtrum	79228	THOC6	ORPHA:363444
HP:0000288	Abnormality of the philtrum	7358	UGDH	OMIM:618792
HP:0000288	Abnormality of the philtrum	8813	DPM1	OMIM:608799
HP:0000288	Abnormality of the philtrum	8813	DPM1	ORPHA:79322
HP:0000288	Abnormality of the philtrum	8242	KDM5C	OMIM:300534
HP:0000288	Abnormality of the philtrum	5077	PAX3	OMIM:193500
HP:0000288	Abnormality of the philtrum	6611	SMS	OMIM:309583
HP:0000288	Abnormality of the philtrum	6611	SMS	ORPHA:3063
HP:0000288	Abnormality of the philtrum	147372	CCBE1	OMIM:235510
HP:0000288	Abnormality of the philtrum	10533	ATG7	OMIM:619422
HP:0000288	Abnormality of the philtrum	8295	TRRAP	OMIM:618454
HP:0000288	Abnormality of the philtrum	9742	IFT140	OMIM:266920
HP:0000288	Abnormality of the philtrum	54903	MKS1	OMIM:249000
HP:0000288	Abnormality of the philtrum	8621	CDK13	OMIM:617360
HP:0000288	Abnormality of the philtrum	22907	DHX30	OMIM:617804
HP:0000288	Abnormality of the philtrum	6857	SYT1	OMIM:618218
HP:0000288	Abnormality of the philtrum	6857	SYT1	ORPHA:522077
HP:0000288	Abnormality of the philtrum	91949	COG7	OMIM:608779
HP:0000288	Abnormality of the philtrum	1281	COL3A1	OMIM:618343
HP:0000288	Abnormality of the philtrum	54517	PUS7	OMIM:618342
HP:0000288	Abnormality of the philtrum	10765	KDM5B	OMIM:618109
HP:0000288	Abnormality of the philtrum	57122	NUP107	OMIM:618348
HP:0000288	Abnormality of the philtrum	57122	NUP107	OMIM:616730
HP:0000288	Abnormality of the philtrum	128869	PIGU	OMIM:618590
HP:0000288	Abnormality of the philtrum	221496	LEMD2	OMIM:619322
HP:0000288	Abnormality of the philtrum	8882	ZPR1	OMIM:619321
HP:0000288	Abnormality of the philtrum	10157	AASS	ORPHA:2203
HP:0000288	Abnormality of the philtrum	64135	IFIH1	OMIM:182250
HP:0000288	Abnormality of the philtrum	1725	DHPS	OMIM:618480
HP:0000288	Abnormality of the philtrum	201163	FLCN	OMIM:610883
HP:0000288	Abnormality of the philtrum	9969	MED13	OMIM:618009
HP:0000288	Abnormality of the philtrum	10943	MSL3	OMIM:301032
HP:0000288	Abnormality of the philtrum	25	ABL1	OMIM:617602
HP:0000288	Abnormality of the philtrum	5000	ORC4	OMIM:613800
HP:0000288	Abnormality of the philtrum	6304	SATB1	OMIM:619229
HP:0000288	Abnormality of the philtrum	8943	AP3D1	OMIM:617050
HP:0000288	Abnormality of the philtrum	84265	POLR3GL	OMIM:619234
HP:0000288	Abnormality of the philtrum	2290	FOXG1	ORPHA:261144
HP:0000288	Abnormality of the philtrum	6711	SPTBN1	OMIM:619475
HP:0000288	Abnormality of the philtrum	1859	DYRK1A	OMIM:614104
HP:0000288	Abnormality of the philtrum	25914	RTTN	ORPHA:468631
HP:0000288	Abnormality of the philtrum	8405	SPOP	OMIM:618828
HP:0000288	Abnormality of the philtrum	63932	STEEP1	OMIM:301013
HP:0000288	Abnormality of the philtrum	10682	EBP	OMIM:300960
HP:0000288	Abnormality of the philtrum	5290	PIK3CA	OMIM:602501
HP:0000288	Abnormality of the philtrum	54870	QRICH1	OMIM:617982
HP:0000288	Abnormality of the philtrum	118924	FRA10AC1	OMIM:620113
HP:0000288	Abnormality of the philtrum	54888	NSUN2	OMIM:611091
HP:0000288	Abnormality of the philtrum	6651	SON	ORPHA:500150
HP:0000288	Abnormality of the philtrum	25974	MMACHC	ORPHA:79282
HP:0000288	Abnormality of the philtrum	25974	MMACHC	OMIM:277400
HP:0000288	Abnormality of the philtrum	5557	PRIM1	OMIM:620005
HP:0000288	Abnormality of the philtrum	10079	ATP9A	OMIM:620242
HP:0000288	Abnormality of the philtrum	2801	GOLGA2	OMIM:620240
HP:0000288	Abnormality of the philtrum	55331	ACER3	OMIM:617762
HP:0000288	Abnormality of the philtrum	7043	TGFB3	OMIM:615582
HP:0000288	Abnormality of the philtrum	57728	WDR19	OMIM:614378
HP:0000288	Abnormality of the philtrum	10844	TUBGCP2	OMIM:618737
HP:0000288	Abnormality of the philtrum	1460	CSNK2B	OMIM:618732
HP:0000288	Abnormality of the philtrum	5052	PRDX1	OMIM:277400
HP:0000288	Abnormality of the philtrum	3763	KCNJ6	ORPHA:435628
HP:0000288	Abnormality of the philtrum	3763	KCNJ6	OMIM:614098
HP:0000288	Abnormality of the philtrum	26128	KIFBP	OMIM:609460
HP:0000288	Abnormality of the philtrum	81857	MED25	OMIM:616449
HP:0000288	Abnormality of the philtrum	81857	MED25	ORPHA:464738
HP:0000288	Abnormality of the philtrum	7021	TFAP2B	OMIM:169100
HP:0000288	Abnormality of the philtrum	7021	TFAP2B	ORPHA:46627
HP:0000288	Abnormality of the philtrum	23126	POGZ	ORPHA:468678
HP:0000288	Abnormality of the philtrum	23126	POGZ	OMIM:616364
HP:0000288	Abnormality of the philtrum	4784	NFIX	ORPHA:447980
HP:0000288	Abnormality of the philtrum	4784	NFIX	OMIM:602535
HP:0000288	Abnormality of the philtrum	4983	OPHN1	OMIM:300486
HP:0000288	Abnormality of the philtrum	23118	TAB2	ORPHA:228410
HP:0000288	Abnormality of the philtrum	116931	MED12L	OMIM:618872
HP:0000288	Abnormality of the philtrum	283489	CHAMP1	OMIM:616579
HP:0000288	Abnormality of the philtrum	10084	PQBP1	ORPHA:93945
HP:0000288	Abnormality of the philtrum	10084	PQBP1	OMIM:309500
HP:0000288	Abnormality of the philtrum	2314	FLII	ORPHA:819
HP:0000288	Abnormality of the philtrum	23096	IQSEC2	ORPHA:819
HP:0000288	Abnormality of the philtrum	10522	DEAF1	ORPHA:819
HP:0000288	Abnormality of the philtrum	23431	AP4E1	OMIM:613744
HP:0000288	Abnormality of the philtrum	23431	AP4E1	ORPHA:280763
HP:0000288	Abnormality of the philtrum	150468	CKAP2L	ORPHA:3255
HP:0000288	Abnormality of the philtrum	150468	CKAP2L	OMIM:272440
HP:0000288	Abnormality of the philtrum	4038	LRP4	ORPHA:3258
HP:0000288	Abnormality of the philtrum	28514	DLL1	ORPHA:280200
HP:0000288	Abnormality of the philtrum	2253	FGF8	ORPHA:280200
HP:0000288	Abnormality of the philtrum	6496	SIX3	ORPHA:280200
HP:0000288	Abnormality of the philtrum	7050	TGIF1	ORPHA:280200
HP:0000288	Abnormality of the philtrum	4838	NODAL	ORPHA:280200
HP:0000288	Abnormality of the philtrum	6469	SHH	ORPHA:280200
HP:0000288	Abnormality of the philtrum	51684	SUFU	ORPHA:280200
HP:0000288	Abnormality of the philtrum	2619	GAS1	ORPHA:280200
HP:0000288	Abnormality of the philtrum	84976	DISP1	ORPHA:280200
HP:0000288	Abnormality of the philtrum	2736	GLI2	ORPHA:280200
HP:0000288	Abnormality of the philtrum	2736	GLI2	OMIM:610829
HP:0000288	Abnormality of the philtrum	8928	FOXH1	ORPHA:280200
HP:0000288	Abnormality of the philtrum	50937	CDON	ORPHA:280200
HP:0000288	Abnormality of the philtrum	10559	SLC35A1	OMIM:603585
HP:0000288	Abnormality of the philtrum	7102	TSPAN7	OMIM:300210
HP:0000288	Abnormality of the philtrum	2590	GALNT2	OMIM:618885
HP:0000288	Abnormality of the philtrum	157680	VPS13B	OMIM:216550
HP:0000288	Abnormality of the philtrum	157680	VPS13B	ORPHA:193
HP:0000288	Abnormality of the philtrum	79087	ALG12	OMIM:607143
HP:0000288	Abnormality of the philtrum	79087	ALG12	ORPHA:79324
HP:0000288	Abnormality of the philtrum	9839	ZEB2	ORPHA:261552
HP:0000288	Abnormality of the philtrum	9839	ZEB2	ORPHA:261537
HP:0000288	Abnormality of the philtrum	9896	FIG4	ORPHA:3472
HP:0000288	Abnormality of the philtrum	9896	FIG4	OMIM:216340
HP:0000288	Abnormality of the philtrum	55697	VAC14	ORPHA:3472
HP:0000288	Abnormality of the philtrum	53834	FGFRL1	OMIM:194190
HP:0000288	Abnormality of the philtrum	10716	TBR1	ORPHA:1617
HP:0000288	Abnormality of the philtrum	2615	LRRC32	OMIM:619074
HP:0000288	Abnormality of the philtrum	26038	CHD5	OMIM:619873
HP:0000288	Abnormality of the philtrum	10717	AP4B1	OMIM:614066
HP:0000288	Abnormality of the philtrum	10717	AP4B1	ORPHA:280763
HP:0000288	Abnormality of the philtrum	11154	AP4S1	OMIM:614067
HP:0000288	Abnormality of the philtrum	11154	AP4S1	ORPHA:280763
HP:0000288	Abnormality of the philtrum	8905	AP1S2	ORPHA:85335
HP:0000288	Abnormality of the philtrum	8363	H4C11	OMIM:619759
HP:0000288	Abnormality of the philtrum	126695	KDF1	OMIM:617337
HP:0000288	Abnormality of the philtrum	9508	ADAMTS3	ORPHA:2136
HP:0000288	Abnormality of the philtrum	79633	FAT4	ORPHA:2136
HP:0000288	Abnormality of the philtrum	10013	HDAC6	ORPHA:163966
HP:0000288	Abnormality of the philtrum	10907	TXNL4A	OMIM:608572
HP:0000288	Abnormality of the philtrum	57459	GATAD2B	ORPHA:363686
HP:0000288	Abnormality of the philtrum	57459	GATAD2B	OMIM:615074
HP:0000288	Abnormality of the philtrum	54828	BCAS3	OMIM:619641
HP:0000288	Abnormality of the philtrum	4089	SMAD4	OMIM:139210
HP:0000288	Abnormality of the philtrum	4849	CNOT3	OMIM:618672
HP:0000288	Abnormality of the philtrum	25973	PARS2	OMIM:618437
HP:0000288	Abnormality of the philtrum	79971	WLS	OMIM:619648
HP:0000288	Abnormality of the philtrum	23065	EMC1	ORPHA:480898
HP:0000288	Abnormality of the philtrum	23065	EMC1	OMIM:616875
HP:0000288	Abnormality of the philtrum	668	FOXL2	ORPHA:572333
HP:0000288	Abnormality of the philtrum	4208	MEF2C	ORPHA:228384
HP:0000288	Abnormality of the philtrum	4208	MEF2C	OMIM:613443
HP:0000288	Abnormality of the philtrum	7355	SLC35A2	OMIM:300896
HP:0000288	Abnormality of the philtrum	7994	KAT6A	OMIM:616268
HP:0000288	Abnormality of the philtrum	22930	RAB3GAP1	ORPHA:1387
HP:0000288	Abnormality of the philtrum	22930	RAB3GAP1	ORPHA:2510
HP:0000288	Abnormality of the philtrum	51574	LARP7	ORPHA:319671
HP:0000288	Abnormality of the philtrum	51574	LARP7	OMIM:615071
HP:0000288	Abnormality of the philtrum	85440	DOCK7	OMIM:615859
HP:0000288	Abnormality of the philtrum	85440	DOCK7	ORPHA:411986
HP:0000288	Abnormality of the philtrum	117581	TWIST2	ORPHA:1807
HP:0000288	Abnormality of the philtrum	3658	IREB2	OMIM:618451
HP:0000288	Abnormality of the philtrum	55081	IFT57	OMIM:617927
HP:0000288	Abnormality of the philtrum	11160	ERLIN2	ORPHA:280384
HP:0000288	Abnormality of the philtrum	11160	ERLIN2	ORPHA:209951
HP:0000288	Abnormality of the philtrum	55217	TMLHE	OMIM:300872
HP:0000288	Abnormality of the philtrum	5898	RALA	OMIM:619311
HP:0000288	Abnormality of the philtrum	10785	WDR4	OMIM:618346
HP:0000288	Abnormality of the philtrum	56896	DPYSL5	OMIM:619435
HP:0000288	Abnormality of the philtrum	29926	GMPPA	OMIM:615510
HP:0000288	Abnormality of the philtrum	65062	TMEM237	OMIM:614424
HP:0000288	Abnormality of the philtrum	5515	PPP2CA	OMIM:618354
HP:0000288	Abnormality of the philtrum	2782	GNB1	OMIM:616973
HP:0000288	Abnormality of the philtrum	55784	MCTP2	ORPHA:1596
HP:0000288	Abnormality of the philtrum	3097	HIVEP2	OMIM:616977
HP:0000288	Abnormality of the philtrum	51114	ZDHHC9	ORPHA:776
HP:0000288	Abnormality of the philtrum	65109	UPF3B	ORPHA:776
HP:0000288	Abnormality of the philtrum	2067	ERCC1	OMIM:610758
HP:0000288	Abnormality of the philtrum	9179	AP4M1	OMIM:612936
HP:0000288	Abnormality of the philtrum	9179	AP4M1	ORPHA:280763
HP:0000288	Abnormality of the philtrum	57551	TAOK1	OMIM:619575
HP:0000288	Abnormality of the philtrum	5530	PPP3CA	OMIM:617711
HP:0000288	Abnormality of the philtrum	5308	PITX2	OMIM:180500
HP:0000288	Abnormality of the philtrum	9241	NOG	OMIM:186500
HP:0000288	Abnormality of the philtrum	6045	RNF2	OMIM:619460
HP:0000288	Abnormality of the philtrum	23258	DENND5A	OMIM:617281
HP:0000288	Abnormality of the philtrum	5718	PSMD12	ORPHA:529962
HP:0000288	Abnormality of the philtrum	2186	BPTF	ORPHA:529962
HP:0000288	Abnormality of the philtrum	79576	NKAP	OMIM:301039
HP:0000288	Abnormality of the philtrum	3188	HNRNPH2	OMIM:300986
HP:0000288	Abnormality of the philtrum	92949	ADAMTSL1	ORPHA:521445
HP:0000288	Abnormality of the philtrum	158326	FREM1	OMIM:608980
HP:0000288	Abnormality of the philtrum	57498	KIDINS220	OMIM:617296
HP:0000288	Abnormality of the philtrum	2892	GRIA3	ORPHA:364028
HP:0000288	Abnormality of the philtrum	5702	PSMC3	OMIM:619354
HP:0000288	Abnormality of the philtrum	54361	WNT4	ORPHA:247768
HP:0000288	Abnormality of the philtrum	285590	SH3PXD2B	ORPHA:137834
HP:0000288	Abnormality of the philtrum	80036	TRPM3	OMIM:620224
HP:0000288	Abnormality of the philtrum	51317	PHF21A	ORPHA:52022
HP:0000288	Abnormality of the philtrum	4841	NONO	OMIM:300967
HP:0000288	Abnormality of the philtrum	4841	NONO	ORPHA:466791
HP:0000288	Abnormality of the philtrum	83737	ITCH	OMIM:613385
HP:0000288	Abnormality of the philtrum	28952	CCDC22	OMIM:300963
HP:0000288	Abnormality of the philtrum	6786	STIM1	OMIM:185070
HP:0000288	Abnormality of the philtrum	2893	GRIA4	OMIM:617864
HP:0000288	Abnormality of the philtrum	8450	CUL4B	ORPHA:85293
HP:0000288	Abnormality of the philtrum	7291	TWIST1	OMIM:617746
HP:0000288	Abnormality of the philtrum	80267	EDEM3	OMIM:619493
HP:0000288	Abnormality of the philtrum	738	VPS51	OMIM:618606
HP:0000288	Abnormality of the philtrum	11043	MID2	OMIM:300928
HP:0000288	Abnormality of the philtrum	22931	RAB18	ORPHA:2510
HP:0000288	Abnormality of the philtrum	26123	TCTN3	ORPHA:2753
HP:0000288	Abnormality of the philtrum	860	RUNX2	OMIM:156510
HP:0000288	Abnormality of the philtrum	57647	DHX37	OMIM:618731
HP:0000288	Abnormality of the philtrum	5566	PRKACA	OMIM:619142
HP:0000288	Abnormality of the philtrum	2036	EPB41L1	OMIM:614257
HP:0000288	Abnormality of the philtrum	6929	TCF3	OMIM:619824
HP:0000288	Abnormality of the philtrum	2137	EXTL3	ORPHA:508533
HP:0000288	Abnormality of the philtrum	51399	TRAPPC4	OMIM:618741
HP:0000288	Abnormality of the philtrum	23019	CNOT1	OMIM:618500
HP:0000288	Abnormality of the philtrum	28981	IFT81	OMIM:617895
HP:0000288	Abnormality of the philtrum	5728	PTEN	OMIM:605309
HP:0000288	Abnormality of the philtrum	5728	PTEN	ORPHA:109
HP:0000288	Abnormality of the philtrum	8425	LTBP4	OMIM:613177
HP:0000288	Abnormality of the philtrum	9820	CUL7	ORPHA:2616
HP:0000288	Abnormality of the philtrum	9820	CUL7	OMIM:273750
HP:0000288	Abnormality of the philtrum	23363	OBSL1	ORPHA:2616
HP:0000288	Abnormality of the philtrum	23363	OBSL1	OMIM:612921
HP:0000288	Abnormality of the philtrum	83987	CCDC8	ORPHA:2616
HP:0000288	Abnormality of the philtrum	83987	CCDC8	OMIM:614205
HP:0000288	Abnormality of the philtrum	7360	UGP2	OMIM:618744
HP:0000288	Abnormality of the philtrum	538	ATP7A	OMIM:304150
HP:0000288	Abnormality of the philtrum	538	ATP7A	ORPHA:198
HP:0000288	Abnormality of the philtrum	5457	POU4F1	ORPHA:314647
HP:0000288	Abnormality of the philtrum	23261	CAMTA1	ORPHA:314647
HP:0000288	Abnormality of the philtrum	23261	CAMTA1	OMIM:614756
HP:0000288	Abnormality of the philtrum	55209	SETD5	ORPHA:404440
HP:0000288	Abnormality of the philtrum	55209	SETD5	OMIM:615761
HP:0000288	Abnormality of the philtrum	1836	SLC26A2	ORPHA:56304
HP:0000288	Abnormality of the philtrum	1836	SLC26A2	ORPHA:93298
HP:0000288	Abnormality of the philtrum	10743	RAI1	ORPHA:477817
HP:0000288	Abnormality of the philtrum	197131	UBR1	OMIM:243800
HP:0000288	Abnormality of the philtrum	3020	H3-3A	OMIM:619720
HP:0000288	Abnormality of the philtrum	3021	H3-3B	OMIM:619721
HP:0000288	Abnormality of the philtrum	51741	WWOX	OMIM:616211
HP:0000288	Abnormality of the philtrum	1855	DVL1	OMIM:616331
HP:0000288	Abnormality of the philtrum	1855	DVL1	OMIM:180700
HP:0000288	Abnormality of the philtrum	1855	DVL1	ORPHA:3107
HP:0000288	Abnormality of the philtrum	55790	CSGALNACT1	OMIM:618870
HP:0000288	Abnormality of the philtrum	79639	TMEM53	OMIM:619727
HP:0000288	Abnormality of the philtrum	23384	SPECC1L	ORPHA:1519
HP:0000288	Abnormality of the philtrum	23384	SPECC1L	OMIM:145420
HP:0000288	Abnormality of the philtrum	3764	KCNJ8	ORPHA:1517
HP:0000288	Abnormality of the philtrum	10060	ABCC9	ORPHA:1517
HP:0000288	Abnormality of the philtrum	10060	ABCC9	OMIM:239850
HP:0000288	Abnormality of the philtrum	79158	GNPTAB	OMIM:252500
HP:0000288	Abnormality of the philtrum	57231	SNX14	ORPHA:397709
HP:0000288	Abnormality of the philtrum	57231	SNX14	OMIM:616354
HP:0000288	Abnormality of the philtrum	57589	RIC1	OMIM:618761
HP:0000288	Abnormality of the philtrum	79868	ALG13	ORPHA:324422
HP:0000288	Abnormality of the philtrum	129685	TAF8	OMIM:619972
HP:0000288	Abnormality of the philtrum	818	CAMK2G	OMIM:618522
HP:0000288	Abnormality of the philtrum	54453	RIN2	OMIM:613075
HP:0000288	Abnormality of the philtrum	54453	RIN2	ORPHA:217335
HP:0000288	Abnormality of the philtrum	9469	CHST3	OMIM:143095
HP:0000288	Abnormality of the philtrum	9469	CHST3	ORPHA:263463
HP:0000288	Abnormality of the philtrum	9469	CHST3	OMIM:245600
HP:0000288	Abnormality of the philtrum	113189	CHST14	ORPHA:2953
HP:0000288	Abnormality of the philtrum	113189	CHST14	OMIM:601776
HP:0000288	Abnormality of the philtrum	29940	DSE	ORPHA:2953
HP:0000288	Abnormality of the philtrum	29940	DSE	OMIM:615539
HP:0000288	Abnormality of the philtrum	54880	BCOR	ORPHA:2712
HP:0000288	Abnormality of the philtrum	54880	BCOR	OMIM:300166
HP:0000288	Abnormality of the philtrum	23545	ATP6V0A2	ORPHA:2834
HP:0000288	Abnormality of the philtrum	23545	ATP6V0A2	OMIM:278250
HP:0000288	Abnormality of the philtrum	23545	ATP6V0A2	OMIM:219200
HP:0000288	Abnormality of the philtrum	23545	ATP6V0A2	ORPHA:357074
HP:0000288	Abnormality of the philtrum	4853	NOTCH2	OMIM:102500
HP:0000288	Abnormality of the philtrum	4853	NOTCH2	ORPHA:955
HP:0000288	Abnormality of the philtrum	64359	NXN	OMIM:618529
HP:0000288	Abnormality of the philtrum	64359	NXN	ORPHA:1507
HP:0000288	Abnormality of the philtrum	9968	MED12	ORPHA:93932
HP:0000288	Abnormality of the philtrum	9968	MED12	OMIM:305450
HP:0000288	Abnormality of the philtrum	9968	MED12	OMIM:300895
HP:0000288	Abnormality of the philtrum	79184	BRCC3	ORPHA:280679
HP:0000288	Abnormality of the philtrum	4920	ROR2	ORPHA:1507
HP:0000288	Abnormality of the philtrum	4920	ROR2	OMIM:268310
HP:0000288	Abnormality of the philtrum	6872	TAF1	ORPHA:480907
HP:0000288	Abnormality of the philtrum	6872	TAF1	OMIM:300966
HP:0000288	Abnormality of the philtrum	10484	SEC23A	OMIM:607812
HP:0000288	Abnormality of the philtrum	10484	SEC23A	ORPHA:50814
HP:0000288	Abnormality of the philtrum	4763	NF1	ORPHA:363700
HP:0000288	Abnormality of the philtrum	54968	TMEM70	OMIM:614052
HP:0000288	Abnormality of the philtrum	4297	KMT2A	ORPHA:319182
HP:0000288	Abnormality of the philtrum	4297	KMT2A	OMIM:605130
HP:0000288	Abnormality of the philtrum	1301	COL11A1	OMIM:228520
HP:0000288	Abnormality of the philtrum	1301	COL11A1	ORPHA:560
HP:0000288	Abnormality of the philtrum	1301	COL11A1	OMIM:154780
HP:0000288	Abnormality of the philtrum	55714	TENM3	OMIM:615145
HP:0000288	Abnormality of the philtrum	1280	COL2A1	ORPHA:90653
HP:0000288	Abnormality of the philtrum	1280	COL2A1	ORPHA:166100
HP:0000288	Abnormality of the philtrum	1280	COL2A1	OMIM:200610
HP:0000288	Abnormality of the philtrum	57178	ZMIZ1	OMIM:618659
HP:0000288	Abnormality of the philtrum	55012	PPP2R3C	OMIM:618419
HP:0000288	Abnormality of the philtrum	93627	TBCK	ORPHA:488632
HP:0000288	Abnormality of the philtrum	200734	SPRED2	OMIM:619745
HP:0000288	Abnormality of the philtrum	64132	XYLT2	ORPHA:85194
HP:0000288	Abnormality of the philtrum	4247	MGAT2	OMIM:212066
HP:0000288	Abnormality of the philtrum	1499	CTNNB1	ORPHA:404473
HP:0000288	Abnormality of the philtrum	1499	CTNNB1	OMIM:615075
HP:0000288	Abnormality of the philtrum	2074	ERCC6	OMIM:214150
HP:0000288	Abnormality of the philtrum	1182	CLCN3	OMIM:619512
HP:0000288	Abnormality of the philtrum	29081	METTL5	OMIM:618665
HP:0000288	Abnormality of the philtrum	6905	TBCE	OMIM:241410
HP:0000288	Abnormality of the philtrum	6905	TBCE	ORPHA:2323
HP:0000288	Abnormality of the philtrum	51604	PIGT	OMIM:615398
HP:0000288	Abnormality of the philtrum	51604	PIGT	ORPHA:369837
HP:0000288	Abnormality of the philtrum	7862	BRPF1	OMIM:617333
HP:0000288	Abnormality of the philtrum	57680	CHD8	OMIM:615032
HP:0000288	Abnormality of the philtrum	2200	FBN1	OMIM:614185
HP:0000288	Abnormality of the philtrum	2200	FBN1	ORPHA:969
HP:0000288	Abnormality of the philtrum	2200	FBN1	OMIM:102370
HP:0000288	Abnormality of the philtrum	8558	CDK10	OMIM:617694
HP:0000288	Abnormality of the philtrum	51633	OTUD6B	OMIM:617452
HP:0000288	Abnormality of the philtrum	51633	OTUD6B	ORPHA:505237
HP:0000288	Abnormality of the philtrum	55699	IARS2	OMIM:616007
HP:0000288	Abnormality of the philtrum	27125	AFF4	OMIM:616368
HP:0000288	Abnormality of the philtrum	27125	AFF4	ORPHA:444077
HP:0000288	Abnormality of the philtrum	9091	PIGQ	OMIM:618548
HP:0000288	Abnormality of the philtrum	5590	PRKCZ	ORPHA:1606
HP:0000288	Abnormality of the philtrum	2563	GABRD	ORPHA:1606
HP:0000288	Abnormality of the philtrum	23013	SPEN	ORPHA:1606
HP:0000288	Abnormality of the philtrum	23013	SPEN	OMIM:619312
HP:0000288	Abnormality of the philtrum	8510	MMP23B	ORPHA:1606
HP:0000288	Abnormality of the philtrum	7798	LUZP1	ORPHA:1606
HP:0000288	Abnormality of the philtrum	6497	SKI	ORPHA:1606
HP:0000288	Abnormality of the philtrum	10630	PDPN	ORPHA:1606
HP:0000288	Abnormality of the philtrum	3339	HSPG2	ORPHA:1606
HP:0000288	Abnormality of the philtrum	3339	HSPG2	ORPHA:800
HP:0000288	Abnormality of the philtrum	10277	UBE4B	ORPHA:1606
HP:0000288	Abnormality of the philtrum	8514	KCNAB2	ORPHA:1606
HP:0000288	Abnormality of the philtrum	473	RERE	ORPHA:1606
HP:0000288	Abnormality of the philtrum	63976	PRDM16	ORPHA:1606
HP:0000288	Abnormality of the philtrum	54897	CASZ1	ORPHA:1606
HP:0000288	Abnormality of the philtrum	6134	RPL10	ORPHA:459070
HP:0000288	Abnormality of the philtrum	6134	RPL10	OMIM:300998
HP:0000288	Abnormality of the philtrum	79796	ALG9	ORPHA:79328
HP:0000288	Abnormality of the philtrum	79796	ALG9	OMIM:608776
HP:0000288	Abnormality of the philtrum	8314	BAP1	OMIM:619762
HP:0000288	Abnormality of the philtrum	56098	PCDHGC4	OMIM:619880
HP:0000288	Abnormality of the philtrum	200424	TET3	OMIM:618798
HP:0000288	Abnormality of the philtrum	9772	TMEM94	OMIM:618316
HP:0000288	Abnormality of the philtrum	57492	ARID1B	ORPHA:251056
HP:0000288	Abnormality of the philtrum	57492	ARID1B	OMIM:135900
HP:0000288	Abnormality of the philtrum	2683	B4GALT1	ORPHA:79332
HP:0000288	Abnormality of the philtrum	124583	CANT1	OMIM:251450
HP:0000288	Abnormality of the philtrum	23314	SATB2	ORPHA:576283
HP:0000288	Abnormality of the philtrum	23314	SATB2	ORPHA:251028
HP:0000288	Abnormality of the philtrum	23314	SATB2	ORPHA:251019
HP:0000288	Abnormality of the philtrum	23314	SATB2	OMIM:612313
HP:0000288	Abnormality of the philtrum	5373	PMM2	ORPHA:79318
HP:0000288	Abnormality of the philtrum	57724	EPG5	OMIM:242840
HP:0000288	Abnormality of the philtrum	23556	PIGN	OMIM:614080
HP:0000288	Abnormality of the philtrum	23556	PIGN	ORPHA:2059
HP:0000288	Abnormality of the philtrum	23162	MAPK8IP3	OMIM:618443
HP:0000288	Abnormality of the philtrum	259232	NALCN	OMIM:616266
HP:0000288	Abnormality of the philtrum	259232	NALCN	ORPHA:2053
HP:0000288	Abnormality of the philtrum	388662	SLC6A17	OMIM:616269
HP:0000288	Abnormality of the philtrum	388662	SLC6A17	ORPHA:457212
HP:0000288	Abnormality of the philtrum	84168	ANTXR1	OMIM:230740
HP:0000288	Abnormality of the philtrum	84168	ANTXR1	ORPHA:2067
HP:0000288	Abnormality of the philtrum	2260	FGFR1	OMIM:166250
HP:0000288	Abnormality of the philtrum	2260	FGFR1	OMIM:190440
HP:0000288	Abnormality of the philtrum	25836	NIPBL	OMIM:122470
HP:0000288	Abnormality of the philtrum	25836	NIPBL	ORPHA:199
HP:0000288	Abnormality of the philtrum	6513	SLC2A1	ORPHA:1942
HP:0000288	Abnormality of the philtrum	8831	SYNGAP1	ORPHA:1942
HP:0000288	Abnormality of the philtrum	1173	AP2M1	ORPHA:1942
HP:0000288	Abnormality of the philtrum	6323	SCN1A	ORPHA:1942
HP:0000288	Abnormality of the philtrum	340533	NEXMIF	ORPHA:1942
HP:0000288	Abnormality of the philtrum	1106	CHD2	ORPHA:1942
HP:0000288	Abnormality of the philtrum	6529	SLC6A1	ORPHA:1942
HP:0000288	Abnormality of the philtrum	3756	KCNH1	OMIM:611816
HP:0000288	Abnormality of the philtrum	3756	KCNH1	OMIM:135500
HP:0000288	Abnormality of the philtrum	3756	KCNH1	ORPHA:420561
HP:0000288	Abnormality of the philtrum	6595	SMARCA2	OMIM:601358
HP:0000288	Abnormality of the philtrum	6595	SMARCA2	ORPHA:3051
HP:0000288	Abnormality of the philtrum	1387	CREBBP	OMIM:618332
HP:0000288	Abnormality of the philtrum	5881	RAC3	OMIM:618577
HP:0000288	Abnormality of the philtrum	26173	INTS1	OMIM:618571
HP:0000288	Abnormality of the philtrum	84188	FAR1	OMIM:616154
HP:0000288	Abnormality of the philtrum	84188	FAR1	ORPHA:438178
HP:0000288	Abnormality of the philtrum	4212	MEIS2	ORPHA:261190
HP:0000288	Abnormality of the philtrum	6878	TAF6	OMIM:617126
HP:0000288	Abnormality of the philtrum	7227	TRPS1	OMIM:190350
HP:0000288	Abnormality of the philtrum	7227	TRPS1	OMIM:190351
HP:0000288	Abnormality of the philtrum	7227	TRPS1	ORPHA:77258
HP:0000288	Abnormality of the philtrum	7227	TRPS1	ORPHA:502
HP:0000288	Abnormality of the philtrum	51013	EXOSC1	OMIM:619304
HP:0000288	Abnormality of the philtrum	55770	EXOC2	OMIM:619306
HP:0000288	Abnormality of the philtrum	81603	TRIM8	OMIM:619428
HP:0000288	Abnormality of the philtrum	4921	DDR2	OMIM:271665
HP:0000288	Abnormality of the philtrum	22827	PUF60	ORPHA:508498
HP:0000288	Abnormality of the philtrum	22827	PUF60	ORPHA:508488
HP:0000288	Abnormality of the philtrum	22827	PUF60	OMIM:615583
HP:0000288	Abnormality of the philtrum	9488	PIGB	OMIM:618580
HP:0000288	Abnormality of the philtrum	30000	TNPO2	OMIM:619556
HP:0000288	Abnormality of the philtrum	8573	CASK	OMIM:300749
HP:0000288	Abnormality of the philtrum	8573	CASK	ORPHA:163937
HP:0000288	Abnormality of the philtrum	100151683	RNU4ATAC	ORPHA:353298
HP:0000288	Abnormality of the philtrum	100151683	RNU4ATAC	OMIM:616651
HP:0000288	Abnormality of the philtrum	4703	NEB	OMIM:256030
HP:0000288	Abnormality of the philtrum	4703	NEB	ORPHA:171433
HP:0000288	Abnormality of the philtrum	55869	HDAC8	OMIM:300882
HP:0000288	Abnormality of the philtrum	55869	HDAC8	ORPHA:199
HP:0000288	Abnormality of the philtrum	2972	BRF1	ORPHA:444072
HP:0000288	Abnormality of the philtrum	1349	COX7B	OMIM:300887
HP:0000288	Abnormality of the philtrum	91754	NEK9	OMIM:617022
HP:0000288	Abnormality of the philtrum	650	BMP2	ORPHA:261295
HP:0000288	Abnormality of the philtrum	650	BMP2	OMIM:617877
HP:0000288	Abnormality of the philtrum	23030	KDM4B	OMIM:619320
HP:0000288	Abnormality of the philtrum	4081	MAB21L1	OMIM:618479
HP:0000288	Abnormality of the philtrum	4952	OCRL	ORPHA:534
HP:0000288	Abnormality of the philtrum	9126	SMC3	OMIM:610759
HP:0000288	Abnormality of the philtrum	9126	SMC3	ORPHA:199
HP:0000288	Abnormality of the philtrum	3417	IDH1	ORPHA:99646
HP:0000288	Abnormality of the philtrum	16	AARS1	OMIM:619691
HP:0000288	Abnormality of the philtrum	4621	MYH3	OMIM:193700
HP:0000288	Abnormality of the philtrum	4621	MYH3	ORPHA:2053
HP:0000288	Abnormality of the philtrum	4621	MYH3	ORPHA:2990
HP:0000288	Abnormality of the philtrum	153642	ARSK	OMIM:619698
HP:0000288	Abnormality of the philtrum	23221	RHOBTB2	OMIM:618004
HP:0000288	Abnormality of the philtrum	4052	LTBP1	OMIM:619451
HP:0000288	Abnormality of the philtrum	54496	PRMT7	OMIM:617157
HP:0000288	Abnormality of the philtrum	54496	PRMT7	ORPHA:464288
HP:0000288	Abnormality of the philtrum	8260	NAA10	OMIM:300855
HP:0000288	Abnormality of the philtrum	10082	GPC6	OMIM:258315
HP:0000288	Abnormality of the philtrum	10082	GPC6	ORPHA:93329
HP:0000288	Abnormality of the philtrum	551	AVP	OMIM:125700
HP:0000288	Abnormality of the philtrum	5831	PYCR1	OMIM:612940
HP:0000288	Abnormality of the philtrum	29920	PYCR2	ORPHA:481152
HP:0000288	Abnormality of the philtrum	29920	PYCR2	OMIM:616420
HP:0000288	Abnormality of the philtrum	1312	COMT	ORPHA:567
HP:0000288	Abnormality of the philtrum	221037	JMJD1C	ORPHA:567
HP:0000288	Abnormality of the philtrum	2812	GP1BB	ORPHA:567
HP:0000288	Abnormality of the philtrum	6239	RREB1	ORPHA:567
HP:0000288	Abnormality of the philtrum	6899	TBX1	ORPHA:567
HP:0000288	Abnormality of the philtrum	7290	HIRA	ORPHA:567
HP:0000288	Abnormality of the philtrum	9632	SEC24C	ORPHA:567
HP:0000288	Abnormality of the philtrum	7353	UFD1	ORPHA:567
HP:0000288	Abnormality of the philtrum	421	ARVCF	ORPHA:567
HP:0000288	Abnormality of the philtrum	7136	TNNI2	OMIM:601680
HP:0000288	Abnormality of the philtrum	1009	CDH11	OMIM:211380
HP:0000288	Abnormality of the philtrum	25942	SIN3A	ORPHA:94065
HP:0000288	Abnormality of the philtrum	25942	SIN3A	OMIM:613406
HP:0000288	Abnormality of the philtrum	164	AP1G1	OMIM:619467
HP:0000288	Abnormality of the philtrum	1822	ATN1	OMIM:618494
HP:0000288	Abnormality of the philtrum	26040	SETBP1	OMIM:616078
HP:0000288	Abnormality of the philtrum	5144	PDE4D	ORPHA:439822
HP:0000288	Abnormality of the philtrum	2475	MTOR	ORPHA:457485
HP:0000288	Abnormality of the philtrum	2475	MTOR	OMIM:616638
HP:0000288	Abnormality of the philtrum	1302	COL11A2	ORPHA:166100
HP:0000288	Abnormality of the philtrum	9244	CRLF1	OMIM:272430
HP:0000288	Abnormality of the philtrum	9244	CRLF1	ORPHA:1545
HP:0000288	Abnormality of the philtrum	990	CDC6	OMIM:613805
HP:0000288	Abnormality of the philtrum	11212	PLPBP	OMIM:617290
HP:0000288	Abnormality of the philtrum	8812	CCNK	OMIM:618147
HP:0000288	Abnormality of the philtrum	9851	KIAA0753	OMIM:619479
HP:0000288	Abnormality of the philtrum	10847	SRCAP	OMIM:619595
HP:0000288	Abnormality of the philtrum	145173	B3GLCT	OMIM:261540
HP:0000288	Abnormality of the philtrum	145173	B3GLCT	ORPHA:709
HP:0000288	Abnormality of the philtrum	2006	ELN	OMIM:123700
HP:0000288	Abnormality of the philtrum	2006	ELN	ORPHA:904
HP:0000288	Abnormality of the philtrum	2006	ELN	OMIM:194050
HP:0000288	Abnormality of the philtrum	526	ATP6V1B2	ORPHA:79500
HP:0000288	Abnormality of the philtrum	57465	TBC1D24	ORPHA:79500
HP:0000288	Abnormality of the philtrum	57465	TBC1D24	OMIM:220500
HP:0000288	Abnormality of the philtrum	2131	EXT1	ORPHA:502
HP:0000288	Abnormality of the philtrum	7204	TRIO	OMIM:617061
HP:0000288	Abnormality of the philtrum	7204	TRIO	OMIM:618825
HP:0000288	Abnormality of the philtrum	7204	TRIO	ORPHA:476126
HP:0000288	Abnormality of the philtrum	3636	INPPL1	OMIM:258480
HP:0000288	Abnormality of the philtrum	2571	GAD1	OMIM:619124
HP:0000288	Abnormality of the philtrum	203068	TUBB	OMIM:156610
HP:0000288	Abnormality of the philtrum	203068	TUBB	ORPHA:2505
HP:0000288	Abnormality of the philtrum	8567	MADD	OMIM:619004
HP:0000288	Abnormality of the philtrum	374879	ZNF699	OMIM:619488
HP:0000288	Abnormality of the philtrum	440138	ALG11	ORPHA:280071
HP:0000288	Abnormality of the philtrum	8239	USP9X	OMIM:300968
HP:0000288	Abnormality of the philtrum	8239	USP9X	ORPHA:480880
HP:0000288	Abnormality of the philtrum	10651	MTX2	OMIM:619127
HP:0000288	Abnormality of the philtrum	6472	SHMT2	OMIM:619121
HP:0000288	Abnormality of the philtrum	29123	ANKRD11	ORPHA:261250
HP:0000288	Abnormality of the philtrum	29123	ANKRD11	OMIM:148050
HP:0000288	Abnormality of the philtrum	29123	ANKRD11	ORPHA:2332
HP:0000288	Abnormality of the philtrum	91875	TTC5	OMIM:619244
HP:0000288	Abnormality of the philtrum	9373	PLAA	ORPHA:521426
HP:0000288	Abnormality of the philtrum	9373	PLAA	OMIM:617527
HP:0000288	Abnormality of the philtrum	93587	TRMT10A	ORPHA:391408
HP:0000288	Abnormality of the philtrum	84919	PPP1R15B	ORPHA:391408
HP:0000288	Abnormality of the philtrum	126792	B3GALT6	OMIM:271640
HP:0000288	Abnormality of the philtrum	126792	B3GALT6	ORPHA:536467
HP:0000288	Abnormality of the philtrum	5528	PPP2R5D	ORPHA:457279
HP:0000288	Abnormality of the philtrum	4781	NFIB	OMIM:618286
HP:0000288	Abnormality of the philtrum	10491	CRTAP	OMIM:610682
HP:0000288	Abnormality of the philtrum	51594	NBAS	OMIM:614800
HP:0000288	Abnormality of the philtrum	3295	HSD17B4	OMIM:261515
HP:0000288	Abnormality of the philtrum	84081	NSRP1	OMIM:620001
HP:0000288	Abnormality of the philtrum	55901	THSD1	OMIM:620244
HP:0000288	Abnormality of the philtrum	64131	XYLT1	ORPHA:370930
HP:0000288	Abnormality of the philtrum	64131	XYLT1	OMIM:615777
HP:0000288	Abnormality of the philtrum	7474	WNT5A	OMIM:180700
HP:0000288	Abnormality of the philtrum	7474	WNT5A	ORPHA:3107
HP:0000288	Abnormality of the philtrum	5727	PTCH1	ORPHA:77301
HP:0000288	Abnormality of the philtrum	129285	PPP1R21	OMIM:619383
HP:0000288	Abnormality of the philtrum	2316	FLNA	ORPHA:555877
HP:0000288	Abnormality of the philtrum	3735	KARS1	OMIM:619147
HP:0000288	Abnormality of the philtrum	84842	HPDL	OMIM:619026
HP:0000288	Abnormality of the philtrum	221927	BRAT1	OMIM:618056
HP:0000288	Abnormality of the philtrum	27445	PCLO	OMIM:608027
HP:0000288	Abnormality of the philtrum	25886	POC1A	OMIM:614813
HP:0000288	Abnormality of the philtrum	3480	IGF1R	OMIM:270450
HP:0000288	Abnormality of the philtrum	158	ADSL	OMIM:103050
HP:0000288	Abnormality of the philtrum	158	ADSL	ORPHA:46
HP:0000288	Abnormality of the philtrum	324	APC	ORPHA:261584
HP:0000288	Abnormality of the philtrum	6309	SC5D	ORPHA:46059
HP:0000288	Abnormality of the philtrum	6309	SC5D	OMIM:607330
HP:0000288	Abnormality of the philtrum	5885	RAD21	OMIM:614701
HP:0000288	Abnormality of the philtrum	5885	RAD21	ORPHA:199
HP:0000288	Abnormality of the philtrum	84282	RNF135	ORPHA:137634
HP:0000288	Abnormality of the philtrum	55112	DYNC2I1	ORPHA:93271
HP:0000288	Abnormality of the philtrum	57560	IFT80	ORPHA:93271
HP:0000288	Abnormality of the philtrum	57539	WDR35	ORPHA:93271
HP:0000288	Abnormality of the philtrum	79659	DYNC2H1	ORPHA:93271
HP:0000288	Abnormality of the philtrum	89891	DYNC2I2	ORPHA:93271
HP:0000288	Abnormality of the philtrum	374654	KIF7	OMIM:200990
HP:0000288	Abnormality of the philtrum	58	ACTA1	ORPHA:171433
HP:0000288	Abnormality of the philtrum	10324	KLHL41	ORPHA:171433
HP:0000288	Abnormality of the philtrum	7170	TPM3	ORPHA:171433
HP:0000288	Abnormality of the philtrum	6662	SOX9	OMIM:114290
HP:0000288	Abnormality of the philtrum	1717	DHCR7	ORPHA:818
HP:0000288	Abnormality of the philtrum	1717	DHCR7	OMIM:270400
HP:0000288	Abnormality of the philtrum	25782	RAB3GAP2	OMIM:212720
HP:0000288	Abnormality of the philtrum	26153	KIF26A	OMIM:620156
HP:0000288	Abnormality of the philtrum	9382	COG1	OMIM:611209
HP:0000288	Abnormality of the philtrum	9382	COG1	ORPHA:263508
HP:0000288	Abnormality of the philtrum	1185	CLCN6	OMIM:619173
HP:0000288	Abnormality of the philtrum	1146	CHRNG	OMIM:265000
HP:0000288	Abnormality of the philtrum	1146	CHRNG	ORPHA:2990
HP:0000288	Abnormality of the philtrum	4001	LMNB1	OMIM:619179
HP:0000288	Abnormality of the philtrum	170302	ARX	OMIM:300215
HP:0000288	Abnormality of the philtrum	80204	FBXO11	OMIM:618089
HP:0000288	Abnormality of the philtrum	8289	ARID1A	OMIM:614607
HP:0000288	Abnormality of the philtrum	4054	LTBP3	ORPHA:969
HP:0000288	Abnormality of the philtrum	4054	LTBP3	OMIM:617809
HP:0000288	Abnormality of the philtrum	8546	AP3B1	OMIM:608233
HP:0000288	Abnormality of the philtrum	6598	SMARCB1	OMIM:614608
HP:0000288	Abnormality of the philtrum	6597	SMARCA4	OMIM:614609
HP:0000288	Abnormality of the philtrum	64919	BCL11B	OMIM:618092
HP:0000288	Abnormality of the philtrum	6885	MAP3K7	OMIM:157800
HP:0000288	Abnormality of the philtrum	55148	UBR7	OMIM:619189
HP:0000288	Abnormality of the philtrum	1954	MEGF8	OMIM:614976
HP:0000288	Abnormality of the philtrum	4338	MOCS2	OMIM:252160
HP:0000288	Abnormality of the philtrum	649	BMP1	OMIM:614856
HP:0000288	Abnormality of the philtrum	124512	METTL23	OMIM:615942
HP:0000288	Abnormality of the philtrum	79053	ALG8	OMIM:608104
HP:0000288	Abnormality of the philtrum	2697	GJA1	OMIM:257850
HP:0000288	Abnormality of the philtrum	23265	EXOC7	OMIM:619072
HP:0000288	Abnormality of the philtrum	4593	MUSK	OMIM:208150
HP:0000288	Abnormality of the philtrum	51660	MPC1	OMIM:614741
HP:0000288	Abnormality of the philtrum	1857	DVL3	ORPHA:3107
HP:0000288	Abnormality of the philtrum	1857	DVL3	OMIM:616894
HP:0000288	Abnormality of the philtrum	2535	FZD2	ORPHA:3107
HP:0000288	Abnormality of the philtrum	2535	FZD2	OMIM:164745
HP:0000288	Abnormality of the philtrum	2535	FZD2	ORPHA:93328
HP:0000288	Abnormality of the philtrum	6804	STX1A	ORPHA:904
HP:0000288	Abnormality of the philtrum	7461	CLIP2	ORPHA:904
HP:0000288	Abnormality of the philtrum	84277	DNAJC30	ORPHA:904
HP:0000288	Abnormality of the philtrum	8468	FKBP6	ORPHA:904
HP:0000288	Abnormality of the philtrum	5982	RFC2	ORPHA:904
HP:0000288	Abnormality of the philtrum	2969	GTF2I	ORPHA:904
HP:0000288	Abnormality of the philtrum	3984	LIMK1	ORPHA:904
HP:0000288	Abnormality of the philtrum	9569	GTF2IRD1	ORPHA:904
HP:0000288	Abnormality of the philtrum	155382	VPS37D	ORPHA:904
HP:0000288	Abnormality of the philtrum	155368	METTL27	ORPHA:904
HP:0000288	Abnormality of the philtrum	114049	BUD23	ORPHA:904
HP:0000288	Abnormality of the philtrum	7458	EIF4H	ORPHA:904
HP:0000288	Abnormality of the philtrum	84163	GTF2IRD2	ORPHA:904
HP:0000288	Abnormality of the philtrum	9275	BCL7B	ORPHA:904
HP:0000288	Abnormality of the philtrum	26608	TBL2	ORPHA:904
HP:0000288	Abnormality of the philtrum	653361	NCF1	ORPHA:904
HP:0000288	Abnormality of the philtrum	135886	TMEM270	ORPHA:904
HP:0000288	Abnormality of the philtrum	51085	MLXIPL	ORPHA:904
HP:0000288	Abnormality of the philtrum	51085	MLXIPL	OMIM:194050
HP:0000288	Abnormality of the philtrum	9031	BAZ1B	ORPHA:904
HP:0000288	Abnormality of the philtrum	23345	SYNE1	ORPHA:319332
HP:0000288	Abnormality of the philtrum	9719	ADAMTSL2	OMIM:231050
HP:0000288	Abnormality of the philtrum	11128	POLR3A	OMIM:264090
HP:0000288	Abnormality of the philtrum	55719	SLF2	OMIM:620184
HP:0000288	Abnormality of the philtrum	283209	PGM2L1	OMIM:620191
HP:0000288	Abnormality of the philtrum	4094	MAF	ORPHA:1272
HP:0000288	Abnormality of the philtrum	4094	MAF	OMIM:601088
HP:0000288	Abnormality of the philtrum	9321	TRIP11	OMIM:184260
HP:0000288	Abnormality of the philtrum	9321	TRIP11	ORPHA:93299
HP:0000288	Abnormality of the philtrum	5594	MAPK1	OMIM:619087
HP:0000288	Abnormality of the philtrum	23522	KAT6B	ORPHA:85201
HP:0000288	Abnormality of the philtrum	55670	PEX26	OMIM:614872
HP:0000288	Abnormality of the philtrum	5591	PRKDC	OMIM:615966
HP:0000288	Abnormality of the philtrum	388015	RTL1	ORPHA:96334
HP:0000288	Abnormality of the philtrum	8788	DLK1	ORPHA:96334
HP:0000288	Abnormality of the philtrum	55384	MEG3	ORPHA:96334
HP:0000288	Abnormality of the philtrum	10430	TMEM147	OMIM:620075
HP:0000288	Abnormality of the philtrum	63895	PIEZO2	OMIM:248700
HP:0000288	Abnormality of the philtrum	81031	SLC2A10	OMIM:208050
HP:0000288	Abnormality of the philtrum	9652	SKIC3	OMIM:222470
HP:0000288	Abnormality of the philtrum	2146	EZH2	OMIM:277590
HP:0000288	Abnormality of the philtrum	2146	EZH2	ORPHA:3447
HP:0000288	Abnormality of the philtrum	80324	PUS1	ORPHA:2598
HP:0000288	Abnormality of the philtrum	51067	YARS2	ORPHA:2598
HP:0000288	Abnormality of the philtrum	701	BUB1B	OMIM:257300
HP:0000288	Abnormality of the philtrum	64324	NSD1	ORPHA:3447
HP:0000288	Abnormality of the philtrum	8726	EED	ORPHA:3447
HP:0000288	Abnormality of the philtrum	23512	SUZ12	ORPHA:3447
HP:0000288	Abnormality of the philtrum	28962	OSTM1	OMIM:259720
HP:0000288	Abnormality of the philtrum	55023	PHIP	ORPHA:589905
HP:0000288	Abnormality of the philtrum	55023	PHIP	OMIM:617991
HP:0000288	Abnormality of the philtrum	2702	GJA5	OMIM:612474
HP:0000288	Abnormality of the philtrum	2703	GJA8	OMIM:612474
HP:0000288	Abnormality of the philtrum	867	CBL	OMIM:613563
HP:0000288	Abnormality of the philtrum	2245	FGD1	ORPHA:915
HP:0000288	Abnormality of the philtrum	10664	CTCF	OMIM:615502
HP:0000288	Abnormality of the philtrum	10664	CTCF	ORPHA:363611
HP:0000288	Abnormality of the philtrum	10075	HUWE1	OMIM:309590
HP:0000288	Abnormality of the philtrum	55906	ZC4H2	OMIM:301041
HP:0000288	Abnormality of the philtrum	55906	ZC4H2	OMIM:314580
HP:0000288	Abnormality of the philtrum	23394	ADNP	OMIM:615873
HP:0000288	Abnormality of the philtrum	10586	MAB21L2	OMIM:615877
HP:0000288	Abnormality of the philtrum	85358	SHANK3	OMIM:606232
HP:0000288	Abnormality of the philtrum	79650	USB1	OMIM:604173
HP:0000288	Abnormality of the philtrum	4854	NOTCH3	OMIM:130720
HP:0000288	Abnormality of the philtrum	5160	PDHA1	OMIM:312170
HP:0000288	Abnormality of the philtrum	5447	POR	OMIM:207410
HP:0000288	Abnormality of the philtrum	2263	FGFR2	OMIM:207410
HP:0000288	Abnormality of the philtrum	169792	GLIS3	OMIM:610199
HP:0000288	Abnormality of the philtrum	998	CDC42	OMIM:616737
HP:0000288	Abnormality of the philtrum	998	CDC42	ORPHA:487796
HP:0000288	Abnormality of the philtrum	3767	KCNJ11	ORPHA:79134
HP:0000288	Abnormality of the philtrum	79731	NARS2	ORPHA:79134
HP:0000288	Abnormality of the philtrum	6833	ABCC8	ORPHA:79134
HP:0000288	Abnormality of the philtrum	2720	GLB1	ORPHA:79255
HP:0000288	Abnormality of the philtrum	5053	PAH	ORPHA:2209
HP:0000288	Abnormality of the philtrum	389827	MYMK	ORPHA:1358
HP:0000288	Abnormality of the philtrum	101929726	MYMX	ORPHA:1358
HP:0000288	Abnormality of the philtrum	101929726	MYMX	OMIM:619941
HP:0000288	Abnormality of the philtrum	84679	SLC9A7	OMIM:301024
HP:0000288	Abnormality of the philtrum	10735	STAG2	OMIM:301022
HP:0000288	Abnormality of the philtrum	10265	IRX5	OMIM:611174
HP:0000288	Abnormality of the philtrum	10352	WARS2	OMIM:617710
HP:0000288	Abnormality of the philtrum	134701	RIPPLY2	ORPHA:2311
HP:0000288	Abnormality of the philtrum	10683	DLL3	ORPHA:2311
HP:0000288	Abnormality of the philtrum	3955	LFNG	ORPHA:2311
HP:0000288	Abnormality of the philtrum	84667	HES7	ORPHA:2311
HP:0000288	Abnormality of the philtrum	145873	MESP2	ORPHA:2311
HP:0000288	Abnormality of the philtrum	5604	MAP2K1	ORPHA:1340
HP:0000288	Abnormality of the philtrum	5605	MAP2K2	ORPHA:1340
HP:0000288	Abnormality of the philtrum	3845	KRAS	ORPHA:1340
HP:0000288	Abnormality of the philtrum	673	BRAF	ORPHA:1340
HP:0000288	Abnormality of the philtrum	2248	FGF3	ORPHA:2791
HP:0000288	Abnormality of the philtrum	1000	CDH2	OMIM:618929
HP:0000288	Abnormality of the philtrum	64093	SMOC1	ORPHA:1106
HP:0000288	Abnormality of the philtrum	5745	PTH1R	ORPHA:50945
HP:0000288	Abnormality of the philtrum	128637	TBC1D20	OMIM:615663
HP:0000288	Abnormality of the philtrum	2313	FLI1	ORPHA:2308
HP:0000288	Abnormality of the philtrum	60	ACTB	OMIM:243310
HP:0000288	Abnormality of the philtrum	60	ACTB	ORPHA:2995
HP:0000288	Abnormality of the philtrum	23476	BRD4	ORPHA:199
HP:0000288	Abnormality of the philtrum	8243	SMC1A	ORPHA:199
HP:0000288	Abnormality of the philtrum	6628	SNRPB	OMIM:117650
HP:0000288	Abnormality of the philtrum	71	ACTG1	OMIM:614583
HP:0000288	Abnormality of the philtrum	71	ACTG1	ORPHA:2995
HP:0000288	Abnormality of the philtrum	1213	CLTC	OMIM:617854
HP:0000288	Abnormality of the philtrum	1861	TOR1A	OMIM:618947
HP:0000288	Abnormality of the philtrum	4337	MOCS1	OMIM:252150
HP:0000288	Abnormality of the philtrum	29957	SLC25A24	OMIM:612289
HP:0000288	Abnormality of the philtrum	4659	PPP1R12A	OMIM:618820
HP:0000288	Abnormality of the philtrum	91461	PKDCC	OMIM:618821
HP:0000288	Abnormality of the philtrum	4329	ALDH6A1	OMIM:614105
HP:0000288	Abnormality of the philtrum	4893	NRAS	OMIM:137550
HP:0000288	Abnormality of the philtrum	3265	HRAS	OMIM:137550
HP:0000288	Abnormality of the philtrum	55617	TASP1	OMIM:618950
HP:0000288	Abnormality of the philtrum	28957	MRPS28	OMIM:618958
HP:0000288	Abnormality of the philtrum	3832	KIF11	ORPHA:2526
HP:0000288	Abnormality of the philtrum	3832	KIF11	OMIM:152950
HP:0000288	Abnormality of the philtrum	5500	PPP1CB	OMIM:617506
HP:0000288	Abnormality of the philtrum	100506658	OCLN	OMIM:251290
HP:0000288	Abnormality of the philtrum	113246	C12orf57	OMIM:218340
HP:0000288	Abnormality of the philtrum	6591	SNAI2	ORPHA:2884
HP:0000288	Abnormality of the philtrum	3815	KIT	ORPHA:2884
HP:0000288	Abnormality of the philtrum	9320	TRIP12	OMIM:617752
HP:0000288	Abnormality of the philtrum	523	ATP6V1A	ORPHA:357074
HP:0000288	Abnormality of the philtrum	529	ATP6V1E1	ORPHA:357074
HP:0000288	Abnormality of the philtrum	529	ATP6V1E1	OMIM:617402
HP:0000288	Abnormality of the philtrum	10020	GNE	OMIM:269921
HP:0000288	Abnormality of the philtrum	84700	MYO18B	OMIM:616549
HP:0000288	Abnormality of the philtrum	10225	CD96	ORPHA:1308
HP:0000288	Abnormality of the philtrum	23529	CLCF1	ORPHA:1545
HP:0000288	Abnormality of the philtrum	26229	B3GAT3	OMIM:245600
HP:0000288	Abnormality of the philtrum	1968	EIF2S3	OMIM:300148
HP:0000288	Abnormality of the philtrum	23404	EXOSC2	OMIM:617763
HP:0000288	Abnormality of the philtrum	92935	MARS2	OMIM:616430
HP:0000288	Abnormality of the philtrum	22861	NLRP1	OMIM:615225
HP:0000288	Abnormality of the philtrum	4281	MID1	ORPHA:2745
HP:0000288	Abnormality of the philtrum	9181	ARHGEF2	OMIM:617523
HP:0000288	Abnormality of the philtrum	10982	MAPRE2	ORPHA:2505
HP:0000288	Abnormality of the philtrum	4654	MYOD1	OMIM:618975
HP:0000288	Abnormality of the philtrum	9653	HS2ST1	OMIM:619194
HP:0000288	Abnormality of the philtrum	50801	KCNK4	OMIM:618381
HP:0000288	Abnormality of the philtrum	253738	EBF3	OMIM:617330
HP:0000288	Abnormality of the philtrum	8367	H4C5	OMIM:619950
HP:0000288	Abnormality of the philtrum	8294	H4C9	OMIM:619951
HP:0000288	Abnormality of the philtrum	94005	PIGS	OMIM:618143
HP:0000288	Abnormality of the philtrum	3572	IL6ST	OMIM:619750
HP:0000288	Abnormality of the philtrum	4683	NBN	OMIM:251260
HP:0000288	Abnormality of the philtrum	4683	NBN	ORPHA:647
HP:0000288	Abnormality of the philtrum	51126	NAA20	OMIM:619717
HP:0000288	Abnormality of the philtrum	26053	AUTS2	OMIM:615834
HP:0000288	Abnormality of the philtrum	55627	SMPD4	OMIM:618622
HP:0000288	Abnormality of the philtrum	1788	DNMT3A	OMIM:615879
HP:0000288	Abnormality of the philtrum	1788	DNMT3A	ORPHA:404443
HP:0000288	Abnormality of the philtrum	8818	DPM2	ORPHA:329178
HP:0000288	Abnormality of the philtrum	4897	NRCAM	OMIM:619833
HP:0000288	Abnormality of the philtrum	7707	ZNF148	OMIM:617260
HP:0000288	Abnormality of the philtrum	1806	DPYD	ORPHA:1675
HP:0000288	Abnormality of the philtrum	9915	ARNT2	OMIM:615926
HP:0000288	Abnormality of the philtrum	6925	TCF4	OMIM:610954
HP:0000288	Abnormality of the philtrum	55343	SLC35C1	ORPHA:99843
HP:0000288	Abnormality of the philtrum	4626	MYH8	OMIM:158300
HP:0000288	Abnormality of the philtrum	4256	MGP	OMIM:245150
HP:0000288	Abnormality of the philtrum	8481	OFD1	OMIM:300804
HP:0000288	Abnormality of the philtrum	114034	TOE1	OMIM:614969
HP:0000288	Abnormality of the philtrum	22856	CHSY1	OMIM:605282
HP:0000288	Abnormality of the philtrum	7546	ZIC2	OMIM:609637
HP:0000288	Abnormality of the philtrum	6792	CDKL5	ORPHA:505652
HP:0000288	Abnormality of the philtrum	6261	RYR1	OMIM:619542
HP:0000288	Abnormality of the philtrum	2033	EP300	OMIM:618333
HP:0000288	Abnormality of the philtrum	5087	PBX1	OMIM:617641
HP:0000288	Abnormality of the philtrum	5567	PRKACB	OMIM:619143
HP:0000288	Abnormality of the philtrum	8036	SHOC2	ORPHA:2701
HP:0000288	Abnormality of the philtrum	51025	PAM16	OMIM:613320
HP:0000288	Abnormality of the philtrum	4858	NOVA2	OMIM:618859
HP:0000288	Abnormality of the philtrum	7020	TFAP2A	ORPHA:1297
HP:0000288	Abnormality of the philtrum	2783	GNB2	OMIM:619503
HP:0000288	Abnormality of the philtrum	7319	UBE2A	ORPHA:163956
HP:0000288	Abnormality of the philtrum	196528	ARID2	OMIM:617808
HP:0000288	Abnormality of the philtrum	9343	EFTUD2	OMIM:610536
HP:0000288	Abnormality of the philtrum	6888	TALDO1	OMIM:606003
HP:0000288	Abnormality of the philtrum	3720	JARID2	OMIM:620098
HP:0000288	Abnormality of the philtrum	5813	PURA	ORPHA:314655
HP:0000288	Abnormality of the philtrum	546	ATRX	OMIM:309580
HP:0000288	Abnormality of the philtrum	10015	PDCD6IP	OMIM:620047
HP:0000288	Abnormality of the philtrum	4131	MAP1B	OMIM:618918
HP:0000288	Abnormality of the philtrum	2132	EXT2	OMIM:616682
HP:0000288	Abnormality of the philtrum	4010	LMX1B	ORPHA:495818
HP:0000288	Abnormality of the philtrum	6812	STXBP1	ORPHA:495818
HP:0000288	Abnormality of the philtrum	55181	SMG8	OMIM:619268
HP:0000288	Abnormality of the philtrum	5159	PDGFRB	OMIM:601812
HP:0011210	EEG with occipital slowing	2782	GNB1	OMIM:616973
HP:4000041	AA amyloidosis	7132	TNFRSF1A	OMIM:142680
HP:0001000	Abnormality of skin pigmentation	128	ADH5	OMIM:619151
HP:0001000	Abnormality of skin pigmentation	6016	RIT1	OMIM:615355
HP:0001000	Abnormality of skin pigmentation	118429	ANTXR2	ORPHA:2176
HP:0001000	Abnormality of skin pigmentation	4173	MCM4	OMIM:609981
HP:0001000	Abnormality of skin pigmentation	10999	SLC27A4	OMIM:608649
HP:0001000	Abnormality of skin pigmentation	55315	SLC29A3	OMIM:602782
HP:0001000	Abnormality of skin pigmentation	55315	SLC29A3	ORPHA:168569
HP:0001000	Abnormality of skin pigmentation	1584	CYP11B1	OMIM:202010
HP:0001000	Abnormality of skin pigmentation	1584	CYP11B1	ORPHA:90795
HP:0001000	Abnormality of skin pigmentation	3284	HSD3B2	ORPHA:90791
HP:0001000	Abnormality of skin pigmentation	4000	LMNA	ORPHA:90153
HP:0001000	Abnormality of skin pigmentation	10651	MTX2	ORPHA:90153
HP:0001000	Abnormality of skin pigmentation	10269	ZMPSTE24	ORPHA:90154
HP:0001000	Abnormality of skin pigmentation	8626	TP63	OMIM:106260
HP:0001000	Abnormality of skin pigmentation	84196	USP48	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	7157	TP53	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	9101	USP8	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	64072	CDH23	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	2908	NR3C1	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	546	ATRX	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	10804	GJB6	OMIM:129500
HP:0001000	Abnormality of skin pigmentation	10804	GJB6	ORPHA:189
HP:0001000	Abnormality of skin pigmentation	212	ALAS2	ORPHA:75563
HP:0001000	Abnormality of skin pigmentation	215	ABCD1	OMIM:300100
HP:0001000	Abnormality of skin pigmentation	23592	LEMD3	ORPHA:94063
HP:0001000	Abnormality of skin pigmentation	1371	CPOX	OMIM:618892
HP:0001000	Abnormality of skin pigmentation	3077	HFE	OMIM:235200
HP:0001000	Abnormality of skin pigmentation	3077	HFE	ORPHA:465508
HP:0001000	Abnormality of skin pigmentation	650	BMP2	OMIM:235200
HP:0001000	Abnormality of skin pigmentation	3043	HBB	ORPHA:231214
HP:0001000	Abnormality of skin pigmentation	3043	HBB	ORPHA:231226
HP:0001000	Abnormality of skin pigmentation	8879	SGPL1	OMIM:617575
HP:0001000	Abnormality of skin pigmentation	5293	PIK3CD	ORPHA:221139
HP:0001000	Abnormality of skin pigmentation	90417	KNSTRN	ORPHA:221139
HP:0001000	Abnormality of skin pigmentation	80025	PANK2	OMIM:234200
HP:0001000	Abnormality of skin pigmentation	7036	TFR2	OMIM:604250
HP:0001000	Abnormality of skin pigmentation	2697	GJA1	OMIM:104100
HP:0001000	Abnormality of skin pigmentation	190	NR0B1	OMIM:300200
HP:0001000	Abnormality of skin pigmentation	3594	IL12RB1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	23534	TNPO3	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	3592	IL12A	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	6689	SPIB	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	5450	POU2AF1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	9966	TNFSF15	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	79258	MMEL1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	2629	GBA1	OMIM:230800
HP:0001000	Abnormality of skin pigmentation	3718	JAK3	ORPHA:35078
HP:0001000	Abnormality of skin pigmentation	654	BMP6	ORPHA:465508
HP:0001000	Abnormality of skin pigmentation	64127	NOD2	ORPHA:90340
HP:0001000	Abnormality of skin pigmentation	9333	TGM5	ORPHA:263534
HP:0001000	Abnormality of skin pigmentation	1475	CSTA	ORPHA:263534
HP:0001000	Abnormality of skin pigmentation	55181	SMG8	OMIM:619268
HP:0001000	Abnormality of skin pigmentation	55367	PIDD1	OMIM:619827
HP:0001000	Abnormality of skin pigmentation	5696	PSMB8	OMIM:256040
HP:0001000	Abnormality of skin pigmentation	6232	RPS27	OMIM:617409
HP:0001000	Abnormality of skin pigmentation	3479	IGF1	ORPHA:73272
HP:0001000	Abnormality of skin pigmentation	8036	SHOC2	OMIM:607721
HP:0001000	Abnormality of skin pigmentation	8367	H4C5	OMIM:619950
HP:0001000	Abnormality of skin pigmentation	8216	LZTR1	OMIM:616564
HP:0001000	Abnormality of skin pigmentation	8216	LZTR1	OMIM:605275
HP:0001000	Abnormality of skin pigmentation	4683	NBN	OMIM:251260
HP:0001000	Abnormality of skin pigmentation	23135	KDM6B	OMIM:618505
HP:0001000	Abnormality of skin pigmentation	55240	STEAP3	OMIM:615234
HP:0001000	Abnormality of skin pigmentation	55240	STEAP3	ORPHA:300298
HP:0001000	Abnormality of skin pigmentation	55654	TMEM127	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	5979	RET	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	4149	MAX	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	7428	VHL	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	161742	SPRED1	OMIM:611431
HP:0001000	Abnormality of skin pigmentation	5894	RAF1	OMIM:611554
HP:0001000	Abnormality of skin pigmentation	5894	RAF1	OMIM:611553
HP:0001000	Abnormality of skin pigmentation	324	APC	ORPHA:99818
HP:0001000	Abnormality of skin pigmentation	26040	SETBP1	ORPHA:436151
HP:0001000	Abnormality of skin pigmentation	10060	ABCC9	OMIM:619719
HP:0001000	Abnormality of skin pigmentation	84570	COL25A1	ORPHA:91411
HP:0001000	Abnormality of skin pigmentation	79776	ZFHX4	ORPHA:91411
HP:0001000	Abnormality of skin pigmentation	6548	SLC9A1	OMIM:616291
HP:0001000	Abnormality of skin pigmentation	197131	UBR1	OMIM:243800
HP:0001000	Abnormality of skin pigmentation	472	ATM	OMIM:208900
HP:0001000	Abnormality of skin pigmentation	3481	IGF2	OMIM:180860
HP:0001000	Abnormality of skin pigmentation	3481	IGF2	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	4763	NF1	ORPHA:363700
HP:0001000	Abnormality of skin pigmentation	4763	NF1	OMIM:162210
HP:0001000	Abnormality of skin pigmentation	7156	TOP3A	OMIM:618097
HP:0001000	Abnormality of skin pigmentation	51729	WBP11	OMIM:619227
HP:0001000	Abnormality of skin pigmentation	4771	NF2	OMIM:101000
HP:0001000	Abnormality of skin pigmentation	699	BUB1	OMIM:620183
HP:0001000	Abnormality of skin pigmentation	1387	CREBBP	OMIM:180849
HP:0001000	Abnormality of skin pigmentation	2033	EP300	OMIM:180849
HP:0001000	Abnormality of skin pigmentation	7249	TSC2	OMIM:613254
HP:0001000	Abnormality of skin pigmentation	3458	IFNG	OMIM:613254
HP:0001000	Abnormality of skin pigmentation	10283	CWC27	OMIM:250410
HP:0001000	Abnormality of skin pigmentation	10283	CWC27	ORPHA:166035
HP:0001000	Abnormality of skin pigmentation	8936	WASF1	OMIM:618707
HP:0001000	Abnormality of skin pigmentation	55719	SLF2	OMIM:620184
HP:0001000	Abnormality of skin pigmentation	5605	MAP2K2	OMIM:615280
HP:0001000	Abnormality of skin pigmentation	285590	SH3PXD2B	OMIM:249420
HP:0001000	Abnormality of skin pigmentation	5594	MAPK1	OMIM:619087
HP:0001000	Abnormality of skin pigmentation	9702	CEP57	OMIM:614114
HP:0001000	Abnormality of skin pigmentation	1028	CDKN1C	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	5324	PLAG1	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	8091	HMGA2	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	5500	PPP1CB	OMIM:617506
HP:0001000	Abnormality of skin pigmentation	7248	TSC1	OMIM:191100
HP:0001000	Abnormality of skin pigmentation	9968	MED12	OMIM:300895
HP:0001000	Abnormality of skin pigmentation	4221	MEN1	OMIM:131100
HP:0001000	Abnormality of skin pigmentation	9652	SKIC3	OMIM:222470
HP:0001000	Abnormality of skin pigmentation	9652	SKIC3	ORPHA:84064
HP:0001000	Abnormality of skin pigmentation	55023	PHIP	OMIM:617991
HP:0001000	Abnormality of skin pigmentation	55023	PHIP	ORPHA:589905
HP:0001000	Abnormality of skin pigmentation	1315	COPB1	OMIM:619255
HP:0001000	Abnormality of skin pigmentation	157570	ESCO2	OMIM:268300
HP:0001000	Abnormality of skin pigmentation	6595	SMARCA2	OMIM:601358
HP:0001000	Abnormality of skin pigmentation	5781	PTPN11	OMIM:151100
HP:0001000	Abnormality of skin pigmentation	5781	PTPN11	OMIM:163950
HP:0001000	Abnormality of skin pigmentation	867	CBL	OMIM:613563
HP:0001000	Abnormality of skin pigmentation	6499	SKIC2	ORPHA:84064
HP:0001000	Abnormality of skin pigmentation	22907	DHX30	OMIM:617804
HP:0001000	Abnormality of skin pigmentation	5426	POLE	OMIM:618336
HP:0001000	Abnormality of skin pigmentation	5604	MAP2K1	OMIM:163950
HP:0001000	Abnormality of skin pigmentation	673	BRAF	OMIM:163950
HP:0001000	Abnormality of skin pigmentation	8085	KMT2D	OMIM:147920
HP:0001000	Abnormality of skin pigmentation	7403	KDM6A	OMIM:147920
HP:0001000	Abnormality of skin pigmentation	5144	PDE4D	ORPHA:950
HP:0001000	Abnormality of skin pigmentation	1139	CHRNA7	ORPHA:199318
HP:0001000	Abnormality of skin pigmentation	23512	SUZ12	OMIM:618786
HP:0001000	Abnormality of skin pigmentation	4982	TNFRSF11B	ORPHA:2801
HP:0001000	Abnormality of skin pigmentation	8792	TNFRSF11A	ORPHA:2801
HP:0001000	Abnormality of skin pigmentation	63915	BLOC1S5	OMIM:619172
HP:0001000	Abnormality of skin pigmentation	5727	PTCH1	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	8643	PTCH2	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	51684	SUFU	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	4784	NFIX	OMIM:602535
HP:0001000	Abnormality of skin pigmentation	2146	EZH2	OMIM:277590
HP:0001000	Abnormality of skin pigmentation	22800	RRAS2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6237	RRAS	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	22808	MRAS	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	200734	SPRED2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6654	SOS1	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6655	SOS2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	5922	RASA2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	60681	FKBP10	ORPHA:1149
HP:0001000	Abnormality of skin pigmentation	7703	PCGF2	OMIM:618371
HP:0001000	Abnormality of skin pigmentation	8726	EED	OMIM:617561
HP:0001000	Abnormality of skin pigmentation	4352	MPL	ORPHA:3319
HP:0001000	Abnormality of skin pigmentation	7066	THPO	ORPHA:3319
HP:0001000	Abnormality of skin pigmentation	1001	CDH3	ORPHA:1573
HP:0001000	Abnormality of skin pigmentation	2200	FBN1	OMIM:616914
HP:0001000	Abnormality of skin pigmentation	2956	MSH6	OMIM:619097
HP:0001000	Abnormality of skin pigmentation	11285	B4GALT7	ORPHA:75496
HP:0001000	Abnormality of skin pigmentation	3981	LIG4	ORPHA:235
HP:0001000	Abnormality of skin pigmentation	54888	NSUN2	ORPHA:235
HP:0001000	Abnormality of skin pigmentation	157680	VPS13B	ORPHA:193
HP:0001000	Abnormality of skin pigmentation	4308	TRPM1	OMIM:613216
HP:0001000	Abnormality of skin pigmentation	3425	IDUA	ORPHA:93473
HP:0001000	Abnormality of skin pigmentation	5627	PROS1	ORPHA:743
HP:0001000	Abnormality of skin pigmentation	5624	PROC	ORPHA:745
HP:0001000	Abnormality of skin pigmentation	2316	FLNA	OMIM:300244
HP:0001000	Abnormality of skin pigmentation	1654	DDX3X	ORPHA:457260
HP:0001000	Abnormality of skin pigmentation	28234	SLCO1B3	OMIM:237450
HP:0001000	Abnormality of skin pigmentation	10599	SLCO1B1	OMIM:237450
HP:0001000	Abnormality of skin pigmentation	3909	LAMA3	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	1308	COL17A1	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3918	LAMC2	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3691	ITGB4	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3914	LAMB3	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	5277	PIGA	OMIM:300868
HP:0001000	Abnormality of skin pigmentation	85378	TUBGCP6	OMIM:251270
HP:0001000	Abnormality of skin pigmentation	7189	TRAF6	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	126695	KDF1	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	1497	CTNS	OMIM:219800
HP:0001000	Abnormality of skin pigmentation	5122	PCSK1	ORPHA:71528
HP:0001000	Abnormality of skin pigmentation	7355	SLC35A2	ORPHA:356961
HP:0001000	Abnormality of skin pigmentation	5443	POMC	ORPHA:71526
HP:0001000	Abnormality of skin pigmentation	84942	WDR73	OMIM:251300
HP:0001000	Abnormality of skin pigmentation	7681	MKRN3	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	3653	IPW	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:398069
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177910
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	791114	PWRN1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	100033413	SNORD116-1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	8924	HERC2	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	145624	PWAR1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	23742	NPAP1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	338433	SNORD115-1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	64324	NSD1	ORPHA:821
HP:0001000	Abnormality of skin pigmentation	29072	SETD2	ORPHA:821
HP:0001000	Abnormality of skin pigmentation	10297	APC2	ORPHA:821
HP:0001000	Abnormality of skin pigmentation	1638	DCT	OMIM:619165
HP:0001000	Abnormality of skin pigmentation	6492	SIM1	ORPHA:398079
HP:0001000	Abnormality of skin pigmentation	28960	DCPS	OMIM:616459
HP:0001000	Abnormality of skin pigmentation	1130	LYST	OMIM:214500
HP:0001000	Abnormality of skin pigmentation	1130	LYST	ORPHA:167
HP:0001000	Abnormality of skin pigmentation	5053	PAH	ORPHA:79254
HP:0001000	Abnormality of skin pigmentation	79158	GNPTAB	OMIM:252500
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:98794
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:98795
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	OMIM:105830
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:411511
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:411515
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:98794
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	OMIM:203200
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:79432
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:177910
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:177907
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	OMIM:105830
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:411515
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177910
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	3861	KRT14	ORPHA:89838
HP:0001000	Abnormality of skin pigmentation	3861	KRT14	ORPHA:69087
HP:0001000	Abnormality of skin pigmentation	3861	KRT14	ORPHA:79396
HP:0001000	Abnormality of skin pigmentation	284058	KANSL1	ORPHA:363958
HP:0001000	Abnormality of skin pigmentation	284058	KANSL1	ORPHA:363965
HP:0001000	Abnormality of skin pigmentation	4286	MITF	ORPHA:42665
HP:0001000	Abnormality of skin pigmentation	114034	TOE1	OMIM:614969
HP:0001000	Abnormality of skin pigmentation	7389	UROD	ORPHA:95159
HP:0001000	Abnormality of skin pigmentation	26258	BLOC1S6	OMIM:614171
HP:0001000	Abnormality of skin pigmentation	5498	PPOX	ORPHA:79473
HP:0001000	Abnormality of skin pigmentation	56244	BTNL2	ORPHA:797
HP:0001000	Abnormality of skin pigmentation	3123	HLA-DRB1	ORPHA:797
HP:0001000	Abnormality of skin pigmentation	64840	PORCN	OMIM:305600
HP:0001000	Abnormality of skin pigmentation	7299	TYR	OMIM:606952
HP:0001000	Abnormality of skin pigmentation	7299	TYR	ORPHA:79431
HP:0001000	Abnormality of skin pigmentation	7299	TYR	ORPHA:79434
HP:0001000	Abnormality of skin pigmentation	1186	CLCN7	OMIM:618541
HP:0001000	Abnormality of skin pigmentation	54800	KLHL24	OMIM:617294
HP:0001000	Abnormality of skin pigmentation	6711	SPTBN1	OMIM:619475
HP:0001000	Abnormality of skin pigmentation	9401	RECQL4	ORPHA:221016
HP:0001000	Abnormality of skin pigmentation	3257	HPS1	OMIM:203300
HP:0001000	Abnormality of skin pigmentation	538	ATP7A	OMIM:309400
HP:0001000	Abnormality of skin pigmentation	3845	KRAS	OMIM:163200
HP:0001000	Abnormality of skin pigmentation	4893	NRAS	OMIM:163200
HP:0001000	Abnormality of skin pigmentation	3265	HRAS	OMIM:163200
HP:0001000	Abnormality of skin pigmentation	4644	MYO5A	ORPHA:33445
HP:0001000	Abnormality of skin pigmentation	4644	MYO5A	OMIM:214450
HP:0001000	Abnormality of skin pigmentation	374879	ZNF699	OMIM:619488
HP:0001000	Abnormality of skin pigmentation	84343	HPS3	OMIM:614072
HP:0001000	Abnormality of skin pigmentation	79803	HPS6	OMIM:614075
HP:0001000	Abnormality of skin pigmentation	641	BLM	OMIM:210900
HP:0001000	Abnormality of skin pigmentation	641	BLM	ORPHA:125
HP:0001000	Abnormality of skin pigmentation	55717	WDR11	OMIM:620237
HP:0001000	Abnormality of skin pigmentation	28956	LAMTOR2	OMIM:610798
HP:0001000	Abnormality of skin pigmentation	57724	EPG5	OMIM:242840
HP:0001000	Abnormality of skin pigmentation	57724	EPG5	ORPHA:1493
HP:0001000	Abnormality of skin pigmentation	7030	TFE3	OMIM:301066
HP:0001000	Abnormality of skin pigmentation	5873	RAB27A	OMIM:607624
HP:0001000	Abnormality of skin pigmentation	348	APOE	ORPHA:158029
HP:0001000	Abnormality of skin pigmentation	7390	UROS	OMIM:263700
HP:0001000	Abnormality of skin pigmentation	7390	UROS	ORPHA:79277
HP:0001000	Abnormality of skin pigmentation	26503	SLC17A5	OMIM:269920
HP:0001000	Abnormality of skin pigmentation	4157	MC1R	OMIM:203200
HP:0001000	Abnormality of skin pigmentation	4157	MC1R	ORPHA:79432
HP:0001000	Abnormality of skin pigmentation	875	CBS	OMIM:236200
HP:0001000	Abnormality of skin pigmentation	10195	ALG3	ORPHA:79321
HP:0001000	Abnormality of skin pigmentation	7508	XPC	OMIM:278720
HP:0001000	Abnormality of skin pigmentation	5429	POLH	ORPHA:90342
HP:0001000	Abnormality of skin pigmentation	4292	MLH1	OMIM:276300
HP:0001000	Abnormality of skin pigmentation	3991	LIPE	OMIM:615980
HP:0001000	Abnormality of skin pigmentation	4254	KITLG	OMIM:619947
HP:0001000	Abnormality of skin pigmentation	3852	KRT5	ORPHA:79396
HP:0001000	Abnormality of skin pigmentation	57194	ATP10A	ORPHA:411515
HP:0001000	Abnormality of skin pigmentation	2623	GATA1	ORPHA:79277
HP:0001000	Abnormality of skin pigmentation	7306	TYRP1	ORPHA:79433
HP:0001000	Abnormality of skin pigmentation	51151	SLC45A2	ORPHA:79435
HP:0001000	Abnormality of skin pigmentation	64682	ANAPC1	ORPHA:221008
HP:0001000	Abnormality of skin pigmentation	8943	AP3D1	OMIM:617050
HP:0001000	Abnormality of skin pigmentation	83938	LRMDA	OMIM:615179
HP:0001000	Abnormality of skin pigmentation	11152	WDR45	OMIM:615179
HP:0001000	Abnormality of skin pigmentation	8546	AP3B1	OMIM:608233
HP:0001000	Abnormality of skin pigmentation	89781	HPS4	OMIM:614073
HP:0001000	Abnormality of skin pigmentation	11234	HPS5	OMIM:614074
HP:0001000	Abnormality of skin pigmentation	778	CACNA1F	OMIM:300600
HP:0001000	Abnormality of skin pigmentation	388552	BLOC1S3	OMIM:614077
HP:0001000	Abnormality of skin pigmentation	84062	DTNBP1	OMIM:614076
HP:0001000	Abnormality of skin pigmentation	23141	ANKLE2	OMIM:616681
HP:0001000	Abnormality of skin pigmentation	112858	TP53RK	OMIM:617730
HP:0001000	Abnormality of skin pigmentation	60	ACTB	ORPHA:64755
HP:0001000	Abnormality of skin pigmentation	3569	IL6	OMIM:148000
HP:0001000	Abnormality of skin pigmentation	56983	POGLUT1	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	23509	POFUT1	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	55851	PSENEN	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	56916	SMARCAD1	OMIM:129200
HP:0001000	Abnormality of skin pigmentation	1161	ERCC8	ORPHA:90321
HP:0001000	Abnormality of skin pigmentation	1161	ERCC8	ORPHA:90322
HP:0001000	Abnormality of skin pigmentation	2074	ERCC6	ORPHA:90321
HP:0001000	Abnormality of skin pigmentation	2074	ERCC6	ORPHA:90322
HP:0001000	Abnormality of skin pigmentation	2074	ERCC6	OMIM:278800
HP:0001000	Abnormality of skin pigmentation	2067	ERCC1	ORPHA:90322
HP:0001000	Abnormality of skin pigmentation	50485	SMARCAL1	ORPHA:1830
HP:0001000	Abnormality of skin pigmentation	50485	SMARCAL1	OMIM:242900
HP:0001000	Abnormality of skin pigmentation	488	ATP2A2	ORPHA:218
HP:0001000	Abnormality of skin pigmentation	488	ATP2A2	OMIM:124200
HP:0001000	Abnormality of skin pigmentation	7132	TNFRSF1A	ORPHA:32960
HP:0001000	Abnormality of skin pigmentation	1536	CYBB	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	4688	NCF2	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	1535	CYBA	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	4689	NCF4	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	653361	NCF1	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	79415	CYBC1	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	8869	ST3GAL5	OMIM:609056
HP:0001000	Abnormality of skin pigmentation	716	C1S	ORPHA:75392
HP:0001000	Abnormality of skin pigmentation	715	C1R	ORPHA:75392
HP:0001000	Abnormality of skin pigmentation	1663	DDX11	OMIM:613398
HP:0001000	Abnormality of skin pigmentation	6794	STK11	OMIM:175200
HP:0001000	Abnormality of skin pigmentation	5339	PLEC	ORPHA:79401
HP:0001000	Abnormality of skin pigmentation	4313	MMP2	OMIM:259600
HP:0001000	Abnormality of skin pigmentation	64421	DCLRE1C	ORPHA:275
HP:0001000	Abnormality of skin pigmentation	4558	MT-TF	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4572	MT-TQ	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4512	MT-CO1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4513	MT-CO2	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4514	MT-CO3	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4578	MT-TW	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4540	MT-ND5	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4541	MT-ND6	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4535	MT-ND1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4538	MT-ND4	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4567	MT-TL1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4574	MT-TS1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4575	MT-TS2	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4564	MT-TH	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	22861	NLRP1	OMIM:606579
HP:0001000	Abnormality of skin pigmentation	4791	NFKB2	ORPHA:293978
HP:0001000	Abnormality of skin pigmentation	847	CAT	ORPHA:926
HP:0001000	Abnormality of skin pigmentation	5336	PLCG2	OMIM:614468
HP:0001000	Abnormality of skin pigmentation	987	LRBA	OMIM:614700
HP:0001000	Abnormality of skin pigmentation	23126	POGZ	ORPHA:468678
HP:0001000	Abnormality of skin pigmentation	27022	FOXD3	OMIM:607836
HP:0001000	Abnormality of skin pigmentation	7852	CXCR4	ORPHA:51636
HP:0001000	Abnormality of skin pigmentation	28755	TRAC	OMIM:615387
HP:0001000	Abnormality of skin pigmentation	56259	CTNNBL1	OMIM:619846
HP:0001000	Abnormality of skin pigmentation	23065	EMC1	ORPHA:480898
HP:0001000	Abnormality of skin pigmentation	57167	SALL4	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	9935	MAFB	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	1123	CHN1	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	2261	FGFR3	ORPHA:53271
HP:0001000	Abnormality of skin pigmentation	1235	CCR6	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	79932	KIAA0319L	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	1490	CCN2	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	3663	IRF5	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	857	CAV1	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	11322	TMC6	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	3574	IL7	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	147138	TMC8	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	10519	CIB1	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	6925	TCF4	ORPHA:2896
HP:0001000	Abnormality of skin pigmentation	8517	IKBKG	ORPHA:464
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:613266
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:609136
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	ORPHA:163746
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:611584
HP:0001000	Abnormality of skin pigmentation	1908	EDN3	OMIM:613265
HP:0001000	Abnormality of skin pigmentation	6608	SMO	ORPHA:1553
HP:0001000	Abnormality of skin pigmentation	1910	EDNRB	OMIM:277580
HP:0001000	Abnormality of skin pigmentation	1910	EDNRB	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	326	AIRE	ORPHA:3453
HP:0001000	Abnormality of skin pigmentation	6591	SNAI2	ORPHA:2884
HP:0001000	Abnormality of skin pigmentation	6591	SNAI2	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	3815	KIT	ORPHA:2884
HP:0001000	Abnormality of skin pigmentation	695	BTK	ORPHA:47
HP:0001000	Abnormality of skin pigmentation	5077	PAX3	ORPHA:894
HP:0001000	Abnormality of skin pigmentation	5077	PAX3	OMIM:148820
HP:0001000	Abnormality of skin pigmentation	340024	SLC6A19	ORPHA:2116
HP:0001000	Abnormality of skin pigmentation	57393	CLTRN	ORPHA:2116
HP:0001000	Abnormality of skin pigmentation	5116	PCNT	ORPHA:2637
HP:0001000	Abnormality of skin pigmentation	2263	FGFR2	ORPHA:207
HP:0001000	Abnormality of skin pigmentation	2077	ERF	ORPHA:207
HP:0001000	Abnormality of skin pigmentation	2581	GALC	ORPHA:206436
HP:0001000	Abnormality of skin pigmentation	5660	PSAP	ORPHA:206436
HP:0001000	Abnormality of skin pigmentation	672	BRCA1	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	10459	MAD2L2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	7516	XRCC2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	29089	UBE2T	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	675	BRCA2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55120	FANCL	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2177	FANCD2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2175	FANCA	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2187	FANCB	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2176	FANCC	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2178	FANCE	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2188	FANCF	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2189	FANCG	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	5888	RAD51	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	5889	RAD51C	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55159	RFWD3	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	83990	BRIP1	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	57697	FANCM	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	79728	PALB2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	84464	SLX4	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2072	ERCC4	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2072	ERCC4	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	55215	FANCI	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	1312	COMT	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	221037	JMJD1C	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	2812	GP1BB	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	6239	RREB1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	6899	TBX1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	7290	HIRA	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	9632	SEC24C	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	7353	UFD1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	421	ARVCF	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	54539	NDUFB11	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	1349	COX7B	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	3052	HCCS	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	10483	SEC23B	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	5728	PTEN	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	6390	SDHB	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	6392	SDHD	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	6391	SDHC	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	207	AKT1	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	205717	USF3	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	5290	PIK3CA	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	100144748	KLLN	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	117581	TWIST2	ORPHA:1807
HP:0001000	Abnormality of skin pigmentation	10058	ABCB6	ORPHA:241
HP:0001000	Abnormality of skin pigmentation	80169	CTC1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	26277	TINF2	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	55651	NHP2	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	79650	USB1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	55135	WRAP53	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	51750	RTEL1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	4869	NPM1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	7012	TERC	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	55505	NOP10	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	5073	PARN	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	7015	TERT	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	1736	DKC1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	7298	TYMS	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	355	FAS	ORPHA:3437
HP:0001000	Abnormality of skin pigmentation	26191	PTPN22	ORPHA:3437
HP:0001000	Abnormality of skin pigmentation	2475	MTOR	ORPHA:457485
HP:0001000	Abnormality of skin pigmentation	84168	ANTXR1	ORPHA:2067
HP:0001000	Abnormality of skin pigmentation	1493	CTLA4	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	940	CD28	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	7133	TNFRSF1B	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	2068	ERCC2	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	7507	XPA	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	2071	ERCC3	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	1643	DDB2	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	2073	ERCC5	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	1075	CTSC	ORPHA:678
HP:0001000	Abnormality of skin pigmentation	50506	DUOX2	ORPHA:226316
HP:0001000	Abnormality of skin pigmentation	84946	LTV1	OMIM:620199
HP:0001000	Abnormality of skin pigmentation	3248	HPGD	ORPHA:1525
HP:0001000	Abnormality of skin pigmentation	128178	EDARADD	OMIM:224900
HP:0001000	Abnormality of skin pigmentation	10913	EDAR	OMIM:224900
HP:0001000	Abnormality of skin pigmentation	1896	EDA	OMIM:305100
HP:0001000	Abnormality of skin pigmentation	56992	KIF15	ORPHA:261323
HP:0001000	Abnormality of skin pigmentation	54345	SOX18	OMIM:137940
HP:0001000	Abnormality of skin pigmentation	57654	UVSSA	OMIM:614640
HP:0001000	Abnormality of skin pigmentation	7994	KAT6A	OMIM:616268
HP:0001000	Abnormality of skin pigmentation	8314	BAP1	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	1019	CDK4	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	4255	MGMT	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	54386	TERF2IP	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	1029	CDKN2A	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	25913	POT1	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	10484	SEC23A	OMIM:607812
HP:0001000	Abnormality of skin pigmentation	79644	SRD5A3	ORPHA:324737
HP:0001000	Abnormality of skin pigmentation	5566	PRKACA	ORPHA:189439
HP:0001000	Abnormality of skin pigmentation	8622	PDE8B	ORPHA:189439
HP:0001000	Abnormality of skin pigmentation	8815	BANF1	OMIM:614008
HP:0001000	Abnormality of skin pigmentation	55612	FERMT1	OMIM:173650
HP:0001000	Abnormality of skin pigmentation	9419	CRIPT	OMIM:615789
HP:0001000	Abnormality of skin pigmentation	25778	DSTYK	OMIM:270750
HP:0001000	Abnormality of skin pigmentation	10682	EBP	ORPHA:401973
HP:0001000	Abnormality of skin pigmentation	10682	EBP	OMIM:300960
HP:0001000	Abnormality of skin pigmentation	4935	GPR143	ORPHA:54
HP:0001000	Abnormality of skin pigmentation	4935	GPR143	OMIM:300500
HP:0001000	Abnormality of skin pigmentation	2778	GNAS	ORPHA:562
HP:0001000	Abnormality of skin pigmentation	2778	GNAS	OMIM:174800
HP:0001000	Abnormality of skin pigmentation	1027	CDKN1B	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	1026	CDKN1A	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	1030	CDKN2B	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	1031	CDKN2C	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	4854	NOTCH3	ORPHA:2591
HP:0001000	Abnormality of skin pigmentation	5159	PDGFRB	ORPHA:2591
HP:0001000	Abnormality of skin pigmentation	6389	SDHA	ORPHA:44890
HP:0001000	Abnormality of skin pigmentation	5156	PDGFRA	ORPHA:44890
HP:0001000	Abnormality of skin pigmentation	2767	GNA11	ORPHA:428
HP:0001000	Abnormality of skin pigmentation	846	CASR	ORPHA:428
HP:0001000	Abnormality of skin pigmentation	1776	DNASE1L3	ORPHA:36412
HP:0001000	Abnormality of skin pigmentation	2776	GNAQ	ORPHA:624
HP:0001000	Abnormality of skin pigmentation	79092	CARD14	ORPHA:2897
HP:0001000	Abnormality of skin pigmentation	3081	HGD	ORPHA:56
HP:0001000	Abnormality of skin pigmentation	1294	COL7A1	ORPHA:89842
HP:0001000	Abnormality of skin pigmentation	203068	TUBB	ORPHA:2505
HP:0001000	Abnormality of skin pigmentation	10982	MAPRE2	ORPHA:2505
HP:0001000	Abnormality of skin pigmentation	2707	GJB3	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	2531	KDSR	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	127534	GJB4	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	3930	LBR	ORPHA:779
HP:0001000	Abnormality of skin pigmentation	1281	COL3A1	ORPHA:2500
HP:0001000	Abnormality of skin pigmentation	11005	SPINK5	ORPHA:634
HP:0001000	Abnormality of skin pigmentation	2783	GNB2	OMIM:619503
HP:0001000	Abnormality of skin pigmentation	6418	SET	OMIM:618106
HP:0001000	Abnormality of skin pigmentation	5932	RBBP8	OMIM:606744
HP:0001000	Abnormality of skin pigmentation	4158	MC2R	OMIM:202200
HP:0001000	Abnormality of skin pigmentation	4158	MC2R	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	30061	SLC40A1	ORPHA:139491
HP:0001000	Abnormality of skin pigmentation	1583	CYP11A1	ORPHA:168558
HP:0001000	Abnormality of skin pigmentation	1583	CYP11A1	ORPHA:289548
HP:0001000	Abnormality of skin pigmentation	3643	INSR	ORPHA:2297
HP:0001000	Abnormality of skin pigmentation	5080	PAX6	ORPHA:2253
HP:0001000	Abnormality of skin pigmentation	65057	ACD	ORPHA:3322
HP:0001000	Abnormality of skin pigmentation	29926	GMPPA	ORPHA:869
HP:0001000	Abnormality of skin pigmentation	60684	TRAPPC11	ORPHA:869
HP:0001000	Abnormality of skin pigmentation	8086	AAAS	ORPHA:869
HP:0001000	Abnormality of skin pigmentation	83550	GPR101	ORPHA:963
HP:0001000	Abnormality of skin pigmentation	9049	AIP	ORPHA:963
HP:0001000	Abnormality of skin pigmentation	56246	MRAP	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	6770	STAR	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	23530	NNT	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	10587	TXNRD2	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	10457	GPNMB	OMIM:617920
HP:0001000	Abnormality of skin pigmentation	224	ALDH3A2	ORPHA:816
HP:0001000	Abnormality of skin pigmentation	57817	HAMP	ORPHA:79230
HP:0001000	Abnormality of skin pigmentation	148738	HJV	ORPHA:79230
HP:0001000	Abnormality of skin pigmentation	526	ATP6V1B2	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3756	KCNH1	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3782	KCNN3	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3662	IRF4	ORPHA:3452
HP:0001000	Abnormality of skin pigmentation	23556	PIGN	ORPHA:280633
HP:0001000	Abnormality of skin pigmentation	103	ADAR	OMIM:127400
HP:0001000	Abnormality of skin pigmentation	23328	SASH1	OMIM:127500
HP:0001000	Abnormality of skin pigmentation	79083	MLPH	ORPHA:79478
HP:0001000	Abnormality of skin pigmentation	55131	RBM28	ORPHA:157954
HP:0001000	Abnormality of skin pigmentation	8239	USP9X	ORPHA:480880
HP:0001000	Abnormality of skin pigmentation	6611	SMS	ORPHA:3063
HP:0001000	Abnormality of skin pigmentation	7319	UBE2A	ORPHA:163956
HP:0001000	Abnormality of skin pigmentation	8882	ZPR1	OMIM:619321
HP:0001000	Abnormality of skin pigmentation	283652	SLC24A5	OMIM:113750
HP:0001000	Abnormality of skin pigmentation	4952	OCRL	ORPHA:534
HP:0001000	Abnormality of skin pigmentation	54	ACP5	OMIM:607944
HP:0001000	Abnormality of skin pigmentation	2260	FGFR1	OMIM:613001
HP:0001000	Abnormality of skin pigmentation	4436	MSH2	OMIM:619096
HP:0001000	Abnormality of skin pigmentation	5980	REV3L	ORPHA:570
HP:0001000	Abnormality of skin pigmentation	23129	PLXND1	ORPHA:570
HP:0001000	Abnormality of skin pigmentation	11253	MAN1B1	ORPHA:397941
HP:0001000	Abnormality of skin pigmentation	8242	KDM5C	ORPHA:85279
HP:0001000	Abnormality of skin pigmentation	9184	BUB3	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	9319	TRIP13	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	701	BUB1B	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	5395	PMS2	OMIM:619101
HP:0001000	Abnormality of skin pigmentation	473	RERE	OMIM:616975
HP:0001000	Abnormality of skin pigmentation	5573	PRKAR1A	ORPHA:1359
HP:0001000	Abnormality of skin pigmentation	50940	PDE11A	ORPHA:1359
HP:0001000	Abnormality of skin pigmentation	151188	ARL6IP6	ORPHA:1556
HP:0001000	Abnormality of skin pigmentation	404672	GTF2H5	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	833	CARS1	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	7737	RNF113A	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	136647	MPLKIP	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	6897	TARS1	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	2961	GTF2E2	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	6117	RPA1	OMIM:619767
HP:0001000	Abnormality of skin pigmentation	5422	POLA1	OMIM:301220
HP:0001000	Abnormality of skin pigmentation	667	DST	OMIM:614653
HP:0001000	Abnormality of skin pigmentation	3977	LIFR	OMIM:601559
HP:0001000	Abnormality of skin pigmentation	134218	DNAJC21	OMIM:617052
HP:0001000	Abnormality of skin pigmentation	374969	SVBP	OMIM:618569
HP:0001001	Abnormality of subcutaneous fat tissue	9719	ADAMTSL2	ORPHA:1901
HP:0001001	Abnormality of subcutaneous fat tissue	9509	ADAMTS2	ORPHA:1901
HP:0001001	Abnormality of subcutaneous fat tissue	1278	COL1A2	ORPHA:1899
HP:0001001	Abnormality of subcutaneous fat tissue	1277	COL1A1	ORPHA:1899
HP:0001001	Abnormality of subcutaneous fat tissue	79053	ALG8	ORPHA:79325
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	OMIM:158350
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	ORPHA:2969
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	ORPHA:79076
HP:0001001	Abnormality of subcutaneous fat tissue	4221	MEN1	OMIM:131100
HP:0001001	Abnormality of subcutaneous fat tissue	2260	FGFR1	OMIM:613001
HP:0001001	Abnormality of subcutaneous fat tissue	5290	PIK3CA	OMIM:615108
HP:0001001	Abnormality of subcutaneous fat tissue	207	AKT1	OMIM:615109
HP:0001001	Abnormality of subcutaneous fat tissue	657	BMPR1A	ORPHA:79076
HP:0001001	Abnormality of subcutaneous fat tissue	1027	CDKN1B	ORPHA:276152
HP:0001001	Abnormality of subcutaneous fat tissue	4000	LMNA	ORPHA:280365
HP:0001001	Abnormality of subcutaneous fat tissue	6497	SKI	OMIM:182212
HP:0001001	Abnormality of subcutaneous fat tissue	8260	NAA10	OMIM:300855
HP:0001001	Abnormality of subcutaneous fat tissue	54345	SOX18	OMIM:137940
HP:0001001	Abnormality of subcutaneous fat tissue	2271	FH	OMIM:606812
HP:0001001	Abnormality of subcutaneous fat tissue	2074	ERCC6	OMIM:133540
HP:0001001	Abnormality of subcutaneous fat tissue	8367	H4C5	OMIM:619950
HP:0001001	Abnormality of subcutaneous fat tissue	2200	FBN1	OMIM:154700
HP:0001001	Abnormality of subcutaneous fat tissue	2200	FBN1	OMIM:616914
HP:0001001	Abnormality of subcutaneous fat tissue	26580	BSCL2	OMIM:269700
HP:0001001	Abnormality of subcutaneous fat tissue	26580	BSCL2	ORPHA:363400
HP:0001001	Abnormality of subcutaneous fat tissue	29957	SLC25A24	OMIM:612289
HP:0001001	Abnormality of subcutaneous fat tissue	29957	SLC25A24	ORPHA:2963
HP:0001001	Abnormality of subcutaneous fat tissue	3643	INSR	ORPHA:508
HP:0001001	Abnormality of subcutaneous fat tissue	3643	INSR	ORPHA:769
HP:0001001	Abnormality of subcutaneous fat tissue	256297	PTF1A	OMIM:609069
HP:0001001	Abnormality of subcutaneous fat tissue	10555	AGPAT2	OMIM:608594
HP:0001001	Abnormality of subcutaneous fat tissue	5346	PLIN1	ORPHA:280356
HP:0001001	Abnormality of subcutaneous fat tissue	5468	PPARG	OMIM:604367
HP:0001001	Abnormality of subcutaneous fat tissue	221496	LEMD2	OMIM:619322
HP:0001001	Abnormality of subcutaneous fat tissue	6514	SLC2A2	OMIM:227810
HP:0001001	Abnormality of subcutaneous fat tissue	51305	KCNK9	OMIM:612292
HP:0001001	Abnormality of subcutaneous fat tissue	7156	TOP3A	OMIM:618097
HP:0001001	Abnormality of subcutaneous fat tissue	7043	TGFB3	OMIM:615582
HP:0001001	Abnormality of subcutaneous fat tissue	55131	RBM28	OMIM:612079
HP:0001001	Abnormality of subcutaneous fat tissue	2783	GNB2	OMIM:619503
HP:0001001	Abnormality of subcutaneous fat tissue	3480	IGF1R	OMIM:270450
HP:0001001	Abnormality of subcutaneous fat tissue	1161	ERCC8	OMIM:216400
HP:0001001	Abnormality of subcutaneous fat tissue	3763	KCNJ6	OMIM:614098
HP:0001001	Abnormality of subcutaneous fat tissue	857	CAV1	OMIM:606721
HP:0001001	Abnormality of subcutaneous fat tissue	10269	ZMPSTE24	OMIM:608612
HP:0001001	Abnormality of subcutaneous fat tissue	26227	PHGDH	OMIM:256520
HP:0001001	Abnormality of subcutaneous fat tissue	5373	PMM2	ORPHA:79318
HP:0001001	Abnormality of subcutaneous fat tissue	5373	PMM2	OMIM:212065
HP:0001001	Abnormality of subcutaneous fat tissue	7040	TGFB1	ORPHA:1328
HP:0001001	Abnormality of subcutaneous fat tissue	23545	ATP6V0A2	ORPHA:357074
HP:0001001	Abnormality of subcutaneous fat tissue	523	ATP6V1A	ORPHA:357074
HP:0001001	Abnormality of subcutaneous fat tissue	529	ATP6V1E1	ORPHA:357074
HP:0001001	Abnormality of subcutaneous fat tissue	79718	TBL1XR1	ORPHA:487825
HP:0001001	Abnormality of subcutaneous fat tissue	11128	POLR3A	ORPHA:3455
HP:0001001	Abnormality of subcutaneous fat tissue	5566	PRKACA	OMIM:615830
HP:0001001	Abnormality of subcutaneous fat tissue	5566	PRKACA	ORPHA:189439
HP:0001001	Abnormality of subcutaneous fat tissue	79798	ARMC5	ORPHA:189427
HP:0001001	Abnormality of subcutaneous fat tissue	2778	GNAS	ORPHA:189427
HP:0001001	Abnormality of subcutaneous fat tissue	8622	PDE8B	ORPHA:189439
HP:0001001	Abnormality of subcutaneous fat tissue	5573	PRKAR1A	ORPHA:189439
HP:0001001	Abnormality of subcutaneous fat tissue	5573	PRKAR1A	ORPHA:1359
HP:0001001	Abnormality of subcutaneous fat tissue	50940	PDE11A	ORPHA:189439
HP:0001001	Abnormality of subcutaneous fat tissue	50940	PDE11A	ORPHA:1359
HP:0001001	Abnormality of subcutaneous fat tissue	7840	ALMS1	ORPHA:64
HP:0001001	Abnormality of subcutaneous fat tissue	84196	USP48	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	7157	TP53	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	9101	USP8	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	64072	CDH23	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	2908	NR3C1	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	673	BRAF	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	546	ATRX	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	93587	TRMT10A	ORPHA:391408
HP:0001001	Abnormality of subcutaneous fat tissue	93587	TRMT10A	OMIM:616033
HP:0001001	Abnormality of subcutaneous fat tissue	84919	PPP1R15B	ORPHA:391408
HP:0100750	Atelectasis	27019	DNAI1	OMIM:244400
HP:0100750	Atelectasis	27019	DNAI1	ORPHA:244
HP:0100750	Atelectasis	427	ASAH1	ORPHA:333
HP:0100750	Atelectasis	126792	B3GALT6	ORPHA:536467
HP:0100750	Atelectasis	92749	DRC1	OMIM:615294
HP:0100750	Atelectasis	92749	DRC1	ORPHA:244
HP:0100750	Atelectasis	6103	RPGR	OMIM:300455
HP:0100750	Atelectasis	6103	RPGR	ORPHA:244
HP:0100750	Atelectasis	54101	RIPK4	ORPHA:1401
HP:0100750	Atelectasis	6774	STAT3	ORPHA:2314
HP:0100750	Atelectasis	8425	LTBP4	OMIM:613177
HP:0100750	Atelectasis	10309	CCNO	OMIM:615872
HP:0100750	Atelectasis	10309	CCNO	ORPHA:244
HP:0100750	Atelectasis	2622	GAS8	OMIM:616726
HP:0100750	Atelectasis	2622	GAS8	ORPHA:244
HP:0100750	Atelectasis	1312	COMT	ORPHA:567
HP:0100750	Atelectasis	221037	JMJD1C	ORPHA:567
HP:0100750	Atelectasis	2812	GP1BB	ORPHA:567
HP:0100750	Atelectasis	6239	RREB1	ORPHA:567
HP:0100750	Atelectasis	6899	TBX1	ORPHA:567
HP:0100750	Atelectasis	6899	TBX1	OMIM:188400
HP:0100750	Atelectasis	7290	HIRA	ORPHA:567
HP:0100750	Atelectasis	9632	SEC24C	ORPHA:567
HP:0100750	Atelectasis	7353	UFD1	ORPHA:567
HP:0100750	Atelectasis	421	ARVCF	ORPHA:567
HP:0100750	Atelectasis	25981	DNAH1	ORPHA:244
HP:0100750	Atelectasis	115948	ODAD3	ORPHA:244
HP:0100750	Atelectasis	54768	HYDIN	ORPHA:244
HP:0100750	Atelectasis	352909	DNAAF3	ORPHA:244
HP:0100750	Atelectasis	27148	STK36	ORPHA:244
HP:0100750	Atelectasis	51314	NME8	ORPHA:244
HP:0100750	Atelectasis	54970	TTC12	ORPHA:244
HP:0100750	Atelectasis	152110	NEK10	ORPHA:244
HP:0100750	Atelectasis	8481	OFD1	ORPHA:244
HP:0100750	Atelectasis	2302	FOXJ1	ORPHA:244
HP:0100750	Atelectasis	221421	RSPH9	ORPHA:244
HP:0100750	Atelectasis	85478	CCDC65	ORPHA:244
HP:0100750	Atelectasis	55036	CCDC40	ORPHA:244
HP:0100750	Atelectasis	51364	ZMYND10	ORPHA:244
HP:0100750	Atelectasis	64446	DNAI2	ORPHA:244
HP:0100750	Atelectasis	6674	SPAG1	ORPHA:244
HP:0100750	Atelectasis	83544	DNAL1	ORPHA:244
HP:0100750	Atelectasis	89765	RSPH1	ORPHA:244
HP:0100750	Atelectasis	83538	ODAD4	ORPHA:244
HP:0100750	Atelectasis	200373	CFAP221	ORPHA:244
HP:0100750	Atelectasis	374407	DNAJB13	ORPHA:244
HP:0100750	Atelectasis	55172	DNAAF2	ORPHA:244
HP:0100750	Atelectasis	161582	DNAAF4	ORPHA:244
HP:0100750	Atelectasis	23639	DNAAF11	ORPHA:244
HP:0100750	Atelectasis	345895	RSPH4A	ORPHA:244
HP:0100750	Atelectasis	54919	DNAAF5	ORPHA:244
HP:0100750	Atelectasis	388389	CCDC103	ORPHA:244
HP:0100750	Atelectasis	93233	ODAD1	ORPHA:244
HP:0100750	Atelectasis	93233	ODAD1	OMIM:615067
HP:0100750	Atelectasis	55130	ODAD2	ORPHA:244
HP:0100750	Atelectasis	1767	DNAH5	ORPHA:244
HP:0100750	Atelectasis	83861	RSPH3	ORPHA:244
HP:0100750	Atelectasis	345643	MCIDAS	ORPHA:244
HP:0100750	Atelectasis	56683	CFAP298	ORPHA:244
HP:0100750	Atelectasis	79925	SPEF2	ORPHA:244
HP:0100750	Atelectasis	115399	LRRC56	ORPHA:244
HP:0100750	Atelectasis	139212	DNAAF6	ORPHA:244
HP:0100750	Atelectasis	123872	DNAAF1	ORPHA:244
HP:0100750	Atelectasis	85016	CFAP300	ORPHA:244
HP:0100750	Atelectasis	339829	CCDC39	ORPHA:244
HP:0100750	Atelectasis	8701	DNAH11	ORPHA:244
HP:0100750	Atelectasis	1770	DNAH9	ORPHA:244
HP:0100750	Atelectasis	246176	GAS2L2	ORPHA:244
HP:0100750	Atelectasis	5339	PLEC	ORPHA:254361
HP:0100750	Atelectasis	1536	CYBB	OMIM:306400
HP:0100750	Atelectasis	7852	CXCR4	ORPHA:51636
HP:0100750	Atelectasis	374354	NHLRC2	OMIM:618278
HP:0100750	Atelectasis	7161	TP73	OMIM:619466
HP:0100750	Atelectasis	7248	TSC1	ORPHA:538
HP:0100750	Atelectasis	7249	TSC2	ORPHA:538
HP:0100750	Atelectasis	6440	SFTPC	ORPHA:70587
HP:0100750	Atelectasis	21	ABCA3	ORPHA:70587
HP:0100750	Atelectasis	6439	SFTPB	ORPHA:70587
HP:0100750	Atelectasis	10551	AGR2	OMIM:620233
HP:0100750	Atelectasis	4952	OCRL	ORPHA:534
HP:0100750	Atelectasis	7080	NKX2-1	OMIM:610978
HP:0100750	Atelectasis	3908	LAMA2	ORPHA:258
HP:0100750	Atelectasis	5077	PAX3	ORPHA:896
HP:0100751	Esophageal neoplasm	6772	STAT1	ORPHA:391487
HP:0100751	Esophageal neoplasm	10043	TOM1	ORPHA:391487
HP:0100751	Esophageal neoplasm	6049	RNF6	ORPHA:99977
HP:0100751	Esophageal neoplasm	6049	RNF6	OMIM:133239
HP:0100751	Esophageal neoplasm	7048	TGFBR2	ORPHA:99977
HP:0100751	Esophageal neoplasm	7048	TGFBR2	OMIM:133239
HP:0100751	Esophageal neoplasm	51741	WWOX	ORPHA:99977
HP:0100751	Esophageal neoplasm	51741	WWOX	OMIM:133239
HP:0100751	Esophageal neoplasm	9940	DLEC1	ORPHA:99977
HP:0100751	Esophageal neoplasm	324	APC	ORPHA:247806
HP:0100751	Esophageal neoplasm	324	APC	ORPHA:79665
HP:0100751	Esophageal neoplasm	11178	LZTS1	OMIM:133239
HP:0100751	Esophageal neoplasm	1630	DCC	OMIM:133239
HP:0100751	Esophageal neoplasm	115908	CTHRC1	OMIM:614266
HP:0100751	Esophageal neoplasm	4481	MSR1	OMIM:614266
HP:0100751	Esophageal neoplasm	51008	ASCC1	OMIM:614266
HP:0100751	Esophageal neoplasm	5885	RAD21	OMIM:611376
HP:0100751	Esophageal neoplasm	4629	MYH11	OMIM:619350
HP:0100751	Esophageal neoplasm	2271	FH	ORPHA:523
HP:0100751	Esophageal neoplasm	641	BLM	ORPHA:125
HP:0100751	Esophageal neoplasm	6794	STK11	ORPHA:2869
HP:0100751	Esophageal neoplasm	79651	RHBDF2	ORPHA:2198
HP:0100751	Esophageal neoplasm	6389	SDHA	ORPHA:44890
HP:0100751	Esophageal neoplasm	6390	SDHB	ORPHA:44890
HP:0100751	Esophageal neoplasm	6391	SDHC	ORPHA:44890
HP:0100751	Esophageal neoplasm	5156	PDGFRA	ORPHA:44890
HP:0100751	Esophageal neoplasm	3815	KIT	ORPHA:44890
HP:0100751	Esophageal neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0100751	Esophageal neoplasm	50940	PDE11A	ORPHA:1359
HP:0100751	Esophageal neoplasm	1288	COL4A6	ORPHA:1018
HP:0100751	Esophageal neoplasm	1287	COL4A5	ORPHA:1018
HP:0100751	Esophageal neoplasm	7373	COL14A1	ORPHA:79501
HP:0100751	Esophageal neoplasm	79719	AAGAB	ORPHA:79501
HP:0100752	Abnormal liver lobulation	168667	BMPER	OMIM:608022
HP:0100753	Schizophrenia	5625	PRODH	OMIM:600850
HP:0100753	Schizophrenia	5625	PRODH	OMIM:239500
HP:0100753	Schizophrenia	5625	PRODH	ORPHA:419
HP:0100753	Schizophrenia	7399	USH2A	ORPHA:231178
HP:0100753	Schizophrenia	79955	PDZD7	ORPHA:231178
HP:0100753	Schizophrenia	4647	MYO7A	ORPHA:231178
HP:0100753	Schizophrenia	4647	MYO7A	ORPHA:231169
HP:0100753	Schizophrenia	25861	WHRN	ORPHA:231178
HP:0100753	Schizophrenia	84059	ADGRV1	ORPHA:231178
HP:0100753	Schizophrenia	1139	CHRNA7	ORPHA:199318
HP:0100753	Schizophrenia	123606	NIPA1	ORPHA:261183
HP:0100753	Schizophrenia	7283	TUBG1	ORPHA:261183
HP:0100753	Schizophrenia	81614	NIPA2	ORPHA:261183
HP:0100753	Schizophrenia	1788	DNMT3A	ORPHA:404443
HP:0100753	Schizophrenia	26137	ZBTB20	OMIM:259050
HP:0100753	Schizophrenia	6558	SLC12A2	OMIM:619081
HP:0100753	Schizophrenia	23600	AMACR	ORPHA:79095
HP:0100753	Schizophrenia	1312	COMT	OMIM:181500
HP:0100753	Schizophrenia	1312	COMT	ORPHA:567
HP:0100753	Schizophrenia	23780	APOL2	OMIM:181500
HP:0100753	Schizophrenia	267012	DAOA	OMIM:181500
HP:0100753	Schizophrenia	3356	HTR2A	OMIM:181500
HP:0100753	Schizophrenia	6854	SYN2	OMIM:181500
HP:0100753	Schizophrenia	1814	DRD3	OMIM:181500
HP:0100753	Schizophrenia	4524	MTHFR	OMIM:181500
HP:0100753	Schizophrenia	27184	DISC2	OMIM:181500
HP:0100753	Schizophrenia	65078	RTN4R	OMIM:181500
HP:0100753	Schizophrenia	80832	APOL4	OMIM:181500
HP:0100753	Schizophrenia	1116	CHI3L1	OMIM:181500
HP:0100753	Schizophrenia	10137	RBM12	OMIM:617629
HP:0100753	Schizophrenia	51114	ZDHHC9	ORPHA:776
HP:0100753	Schizophrenia	65109	UPF3B	ORPHA:776
HP:0100753	Schizophrenia	9968	MED12	ORPHA:776
HP:0100753	Schizophrenia	7401	CLRN1	ORPHA:231183
HP:0100753	Schizophrenia	22901	ARSG	ORPHA:231183
HP:0100753	Schizophrenia	4575	MT-TS2	ORPHA:231183
HP:0100753	Schizophrenia	3035	HARS1	ORPHA:231183
HP:0100753	Schizophrenia	84131	CEP78	ORPHA:231183
HP:0100753	Schizophrenia	488	ATP2A2	OMIM:124200
HP:0100753	Schizophrenia	147409	DSG4	ORPHA:573
HP:0100753	Schizophrenia	3892	KRT86	ORPHA:573
HP:0100753	Schizophrenia	3889	KRT83	ORPHA:573
HP:0100753	Schizophrenia	3887	KRT81	ORPHA:573
HP:0100753	Schizophrenia	410	ARSA	ORPHA:309271
HP:0100753	Schizophrenia	5660	PSAP	ORPHA:309271
HP:0100753	Schizophrenia	55154	MSTO1	OMIM:617675
HP:0100753	Schizophrenia	55154	MSTO1	ORPHA:502423
HP:0100753	Schizophrenia	24140	FTSJ1	OMIM:309549
HP:0100753	Schizophrenia	9739	SETD1A	OMIM:619056
HP:0100753	Schizophrenia	85358	SHANK3	OMIM:613950
HP:0100753	Schizophrenia	847	CAT	ORPHA:926
HP:0100753	Schizophrenia	2629	GBA1	ORPHA:411602
HP:0100753	Schizophrenia	23317	DNAJC13	ORPHA:411602
HP:0100753	Schizophrenia	1981	EIF4G1	ORPHA:411602
HP:0100753	Schizophrenia	55737	VPS35	ORPHA:411602
HP:0100753	Schizophrenia	120892	LRRK2	ORPHA:411602
HP:0100753	Schizophrenia	26058	GIGYF2	ORPHA:411602
HP:0100753	Schizophrenia	6622	SNCA	ORPHA:411602
HP:0100753	Schizophrenia	4556	MT-TE	ORPHA:2596
HP:0100753	Schizophrenia	7080	NKX2-1	ORPHA:209905
HP:0100753	Schizophrenia	221037	JMJD1C	ORPHA:567
HP:0100753	Schizophrenia	2812	GP1BB	ORPHA:567
HP:0100753	Schizophrenia	6239	RREB1	ORPHA:567
HP:0100753	Schizophrenia	6899	TBX1	ORPHA:567
HP:0100753	Schizophrenia	6899	TBX1	OMIM:188400
HP:0100753	Schizophrenia	7290	HIRA	ORPHA:567
HP:0100753	Schizophrenia	9632	SEC24C	ORPHA:567
HP:0100753	Schizophrenia	7353	UFD1	ORPHA:567
HP:0100753	Schizophrenia	421	ARVCF	ORPHA:567
HP:0100753	Schizophrenia	64072	CDH23	ORPHA:231169
HP:0100753	Schizophrenia	10083	USH1C	ORPHA:231169
HP:0100753	Schizophrenia	124590	USH1G	ORPHA:231169
HP:0100753	Schizophrenia	83715	ESPN	ORPHA:231169
HP:0100753	Schizophrenia	10518	CIB2	ORPHA:231169
HP:0100753	Schizophrenia	65217	PCDH15	ORPHA:231169
HP:0100753	Schizophrenia	10533	ATG7	OMIM:619422
HP:0100753	Schizophrenia	7466	WFS1	OMIM:614296
HP:0100753	Schizophrenia	2702	GJA5	OMIM:612474
HP:0100753	Schizophrenia	2703	GJA8	OMIM:612474
HP:0100753	Schizophrenia	2313	FLI1	ORPHA:2308
HP:0100754	Mania	291	SLC25A4	ORPHA:254892
HP:0100754	Mania	5428	POLG	ORPHA:254892
HP:0100754	Mania	56652	TWNK	ORPHA:254892
HP:0100754	Mania	11232	POLG2	ORPHA:254892
HP:0100754	Mania	50484	RRM2B	ORPHA:254892
HP:0100754	Mania	4558	MT-TF	ORPHA:550
HP:0100754	Mania	4572	MT-TQ	ORPHA:550
HP:0100754	Mania	4512	MT-CO1	ORPHA:550
HP:0100754	Mania	4513	MT-CO2	ORPHA:550
HP:0100754	Mania	4514	MT-CO3	ORPHA:550
HP:0100754	Mania	4578	MT-TW	ORPHA:550
HP:0100754	Mania	4540	MT-ND5	ORPHA:550
HP:0100754	Mania	4541	MT-ND6	ORPHA:550
HP:0100754	Mania	4535	MT-ND1	ORPHA:550
HP:0100754	Mania	4538	MT-ND4	ORPHA:550
HP:0100754	Mania	4567	MT-TL1	ORPHA:550
HP:0100754	Mania	4574	MT-TS1	ORPHA:550
HP:0100754	Mania	4575	MT-TS2	ORPHA:550
HP:0100754	Mania	4564	MT-TH	ORPHA:550
HP:0100754	Mania	64601	VPS16	OMIM:619291
HP:0100754	Mania	6609	SMPD1	ORPHA:77293
HP:0100754	Mania	1183	CLCN4	OMIM:300114
HP:0100754	Mania	1183	CLCN4	ORPHA:485350
HP:0100754	Mania	1139	CHRNA7	ORPHA:199318
HP:0100754	Mania	1788	DNMT3A	ORPHA:404443
HP:0100754	Mania	1312	COMT	ORPHA:567
HP:0100754	Mania	221037	JMJD1C	ORPHA:567
HP:0100754	Mania	2812	GP1BB	ORPHA:567
HP:0100754	Mania	6239	RREB1	ORPHA:567
HP:0100754	Mania	6899	TBX1	ORPHA:567
HP:0100754	Mania	6899	TBX1	OMIM:188400
HP:0100754	Mania	7290	HIRA	ORPHA:567
HP:0100754	Mania	9632	SEC24C	ORPHA:567
HP:0100754	Mania	7353	UFD1	ORPHA:567
HP:0100754	Mania	421	ARVCF	ORPHA:567
HP:0100754	Mania	387119	CEP85L	OMIM:618873
HP:0100754	Mania	79152	FA2H	ORPHA:329308
HP:0100754	Mania	93627	TBCK	ORPHA:488632
HP:0100754	Mania	2890	GRIA1	OMIM:619927
HP:0100754	Mania	5159	PDGFRB	OMIM:615007
HP:0100754	Mania	4204	MECP2	ORPHA:3077
HP:0100754	Mania	10137	RBM12	OMIM:617629
HP:0100754	Mania	6197	RPS6KA3	ORPHA:276630
HP:0100754	Mania	2313	FLI1	ORPHA:2308
HP:0100754	Mania	488	ATP2A2	OMIM:124200
HP:0100754	Mania	79798	ARMC5	ORPHA:189427
HP:0100754	Mania	2778	GNAS	ORPHA:189427
HP:0100754	Mania	5566	PRKACA	ORPHA:189439
HP:0100754	Mania	8622	PDE8B	ORPHA:189439
HP:0100754	Mania	5573	PRKAR1A	ORPHA:189439
HP:0100754	Mania	50940	PDE11A	ORPHA:189439
HP:0100754	Mania	5621	PRNP	OMIM:603218
HP:0100754	Mania	10165	SLC25A13	ORPHA:247585
HP:0100755	Abnormality of salivation	6335	SCN9A	OMIM:133020
HP:0100755	Abnormality of salivation	9071	CLDN10	OMIM:617671
HP:0100755	Abnormality of salivation	64834	ELOVL1	OMIM:618527
HP:0100755	Abnormality of salivation	2263	FGFR2	OMIM:149730
HP:0100755	Abnormality of salivation	2263	FGFR2	ORPHA:2363
HP:0100755	Abnormality of salivation	54551	MAGEL2	ORPHA:398069
HP:0100755	Abnormality of salivation	128178	EDARADD	OMIM:614941
HP:0100755	Abnormality of salivation	25978	CHMP2B	ORPHA:803
HP:0100755	Abnormality of salivation	3178	HNRNPA1	ORPHA:803
HP:0100755	Abnormality of salivation	8148	TAF15	ORPHA:803
HP:0100755	Abnormality of salivation	5445	PON2	ORPHA:803
HP:0100755	Abnormality of salivation	9217	VAPB	ORPHA:803
HP:0100755	Abnormality of salivation	8878	SQSTM1	ORPHA:803
HP:0100755	Abnormality of salivation	5630	PRPH	ORPHA:803
HP:0100755	Abnormality of salivation	29110	TBK1	ORPHA:803
HP:0100755	Abnormality of salivation	55830	GLT8D1	ORPHA:803
HP:0100755	Abnormality of salivation	755	CFAP410	ORPHA:803
HP:0100755	Abnormality of salivation	10891	PPARGC1A	ORPHA:803
HP:0100755	Abnormality of salivation	6647	SOD1	ORPHA:803
HP:0100755	Abnormality of salivation	10133	OPTN	ORPHA:803
HP:0100755	Abnormality of salivation	1639	DCTN1	ORPHA:803
HP:0100755	Abnormality of salivation	9896	FIG4	ORPHA:803
HP:0100755	Abnormality of salivation	5444	PON1	ORPHA:803
HP:0100755	Abnormality of salivation	5446	PON3	ORPHA:803
HP:0100755	Abnormality of salivation	4744	NEFH	ORPHA:803
HP:0100755	Abnormality of salivation	5216	PFN1	ORPHA:803
HP:0100755	Abnormality of salivation	9782	MATR3	ORPHA:803
HP:0100755	Abnormality of salivation	54209	TREM2	ORPHA:803
HP:0100755	Abnormality of salivation	7415	VCP	ORPHA:803
HP:0100755	Abnormality of salivation	283	ANG	ORPHA:803
HP:0100755	Abnormality of salivation	23435	TARDBP	ORPHA:803
HP:0100755	Abnormality of salivation	29978	UBQLN2	ORPHA:803
HP:0100755	Abnormality of salivation	2733	GLE1	ORPHA:803
HP:0100755	Abnormality of salivation	2521	FUS	ORPHA:803
HP:0100755	Abnormality of salivation	4750	NEK1	ORPHA:803
HP:0100755	Abnormality of salivation	2043	EPHA4	ORPHA:803
HP:0100755	Abnormality of salivation	6311	ATXN2	ORPHA:803
HP:0100755	Abnormality of salivation	1610	DAO	ORPHA:803
HP:0100755	Abnormality of salivation	2066	ERBB4	ORPHA:803
HP:0100755	Abnormality of salivation	311	ANXA11	ORPHA:803
HP:0100755	Abnormality of salivation	23025	UNC13A	ORPHA:803
HP:0100755	Abnormality of salivation	899	CCNF	ORPHA:803
HP:0100755	Abnormality of salivation	400916	CHCHD10	ORPHA:803
HP:0100755	Abnormality of salivation	64127	NOD2	ORPHA:90340
HP:0100755	Abnormality of salivation	64127	NOD2	OMIM:617321
HP:0100755	Abnormality of salivation	8626	TP63	OMIM:604292
HP:0100755	Abnormality of salivation	8626	TP63	ORPHA:1896
HP:0100755	Abnormality of salivation	1131	CHRM3	OMIM:100100
HP:0100755	Abnormality of salivation	2255	FGF10	OMIM:180920
HP:0100755	Abnormality of salivation	2255	FGF10	OMIM:620193
HP:0100755	Abnormality of salivation	2255	FGF10	ORPHA:2363
HP:0100755	Abnormality of salivation	6558	SLC12A2	OMIM:619080
HP:0100755	Abnormality of salivation	2934	GSN	ORPHA:85448
HP:0100755	Abnormality of salivation	6492	SIM1	ORPHA:398079
HP:0100755	Abnormality of salivation	1235	CCR6	ORPHA:220393
HP:0100755	Abnormality of salivation	1490	CCN2	ORPHA:220393
HP:0100755	Abnormality of salivation	3663	IRF5	ORPHA:220393
HP:0100755	Abnormality of salivation	857	CAV1	ORPHA:220393
HP:0100755	Abnormality of salivation	3123	HLA-DRB1	ORPHA:220393
HP:0100755	Abnormality of salivation	2261	FGFR3	ORPHA:2363
HP:0100755	Abnormality of salivation	3930	LBR	ORPHA:779
HP:0100755	Abnormality of salivation	2137	EXTL3	ORPHA:508533
HP:0100755	Abnormality of salivation	84706	GPT2	OMIM:616281
HP:0100755	Abnormality of salivation	84706	GPT2	ORPHA:477673
HP:0100755	Abnormality of salivation	55906	ZC4H2	OMIM:301041
HP:0100755	Abnormality of salivation	55906	ZC4H2	OMIM:314580
HP:0100755	Abnormality of salivation	23111	SPART	OMIM:275900
HP:0100755	Abnormality of salivation	23141	ANKLE2	OMIM:616681
HP:0100755	Abnormality of salivation	23013	SPEN	OMIM:619312
HP:0100755	Abnormality of salivation	340533	NEXMIF	OMIM:300912
HP:0100755	Abnormality of salivation	9759	HDAC4	OMIM:619797
HP:0100755	Abnormality of salivation	51126	NAA20	OMIM:619717
HP:0100755	Abnormality of salivation	10059	DNM1L	OMIM:614388
HP:0100755	Abnormality of salivation	23314	SATB2	ORPHA:251028
HP:0100755	Abnormality of salivation	23314	SATB2	ORPHA:576283
HP:0100755	Abnormality of salivation	92335	STRADA	ORPHA:500533
HP:0100755	Abnormality of salivation	9839	ZEB2	OMIM:235730
HP:0100755	Abnormality of salivation	10159	ATP6AP2	ORPHA:93952
HP:0100755	Abnormality of salivation	10159	ATP6AP2	OMIM:300423
HP:0100755	Abnormality of salivation	478	ATP1A3	OMIM:128235
HP:0100755	Abnormality of salivation	478	ATP1A3	OMIM:619606
HP:0100755	Abnormality of salivation	478	ATP1A3	ORPHA:71517
HP:0100755	Abnormality of salivation	10479	SLC9A6	OMIM:300243
HP:0100755	Abnormality of salivation	6567	SLC16A2	OMIM:300523
HP:0100755	Abnormality of salivation	55209	SETD5	OMIM:615761
HP:0100755	Abnormality of salivation	9442	MED27	OMIM:619286
HP:0100755	Abnormality of salivation	283489	CHAMP1	OMIM:616579
HP:0100755	Abnormality of salivation	3097	HIVEP2	OMIM:616977
HP:0100755	Abnormality of salivation	5010	CLDN11	OMIM:619328
HP:0100755	Abnormality of salivation	23431	AP4E1	OMIM:613744
HP:0100755	Abnormality of salivation	23431	AP4E1	ORPHA:280763
HP:0100755	Abnormality of salivation	9179	AP4M1	OMIM:612936
HP:0100755	Abnormality of salivation	9179	AP4M1	ORPHA:280763
HP:0100755	Abnormality of salivation	2192	FBLN1	ORPHA:404451
HP:0100755	Abnormality of salivation	84679	SLC9A7	OMIM:301024
HP:0100755	Abnormality of salivation	6595	SMARCA2	OMIM:619293
HP:0100755	Abnormality of salivation	6595	SMARCA2	OMIM:601358
HP:0100755	Abnormality of salivation	7337	UBE3A	ORPHA:98794
HP:0100755	Abnormality of salivation	7337	UBE3A	OMIM:105830
HP:0100755	Abnormality of salivation	7337	UBE3A	ORPHA:411511
HP:0100755	Abnormality of salivation	7337	UBE3A	ORPHA:411515
HP:0100755	Abnormality of salivation	4948	OCA2	ORPHA:98794
HP:0100755	Abnormality of salivation	55777	MBD5	OMIM:156200
HP:0100755	Abnormality of salivation	4784	NFIX	OMIM:602535
HP:0100755	Abnormality of salivation	56992	KIF15	ORPHA:261323
HP:0100755	Abnormality of salivation	8925	HERC1	ORPHA:457359
HP:0100755	Abnormality of salivation	84340	GFM2	ORPHA:565624
HP:0100755	Abnormality of salivation	84340	GFM2	OMIM:618397
HP:0100755	Abnormality of salivation	10588	MTHFS	OMIM:618367
HP:0100755	Abnormality of salivation	63035	BCORL1	OMIM:301029
HP:0100755	Abnormality of salivation	9968	MED12	ORPHA:93932
HP:0100755	Abnormality of salivation	93986	FOXP2	ORPHA:209908
HP:0100755	Abnormality of salivation	51319	RSRC1	OMIM:618402
HP:0100755	Abnormality of salivation	9378	NRXN1	OMIM:614325
HP:0100755	Abnormality of salivation	8398	PLA2G6	ORPHA:35069
HP:0100755	Abnormality of salivation	8604	SLC25A12	OMIM:612949
HP:0100755	Abnormality of salivation	2898	GRIK2	OMIM:619580
HP:0100755	Abnormality of salivation	7703	PCGF2	OMIM:618371
HP:0100755	Abnormality of salivation	6899	TBX1	OMIM:188400
HP:0100755	Abnormality of salivation	80856	LNPK	OMIM:618090
HP:0100755	Abnormality of salivation	84823	LMNB2	OMIM:619180
HP:0100755	Abnormality of salivation	10087	CERT1	OMIM:616351
HP:0100755	Abnormality of salivation	5631	PRPS1	OMIM:301835
HP:0100755	Abnormality of salivation	2906	GRIN2D	OMIM:617162
HP:0100755	Abnormality of salivation	3188	HNRNPH2	OMIM:300986
HP:0100755	Abnormality of salivation	128989	TANGO2	OMIM:616878
HP:0100755	Abnormality of salivation	6304	SATB1	OMIM:619229
HP:0100755	Abnormality of salivation	10522	DEAF1	OMIM:617171
HP:0100755	Abnormality of salivation	10522	DEAF1	ORPHA:468620
HP:0100755	Abnormality of salivation	10717	AP4B1	OMIM:614066
HP:0100755	Abnormality of salivation	10717	AP4B1	ORPHA:280763
HP:0100755	Abnormality of salivation	27107	ZBTB11	OMIM:618383
HP:0100755	Abnormality of salivation	11154	AP4S1	OMIM:614067
HP:0100755	Abnormality of salivation	11154	AP4S1	ORPHA:280763
HP:0100755	Abnormality of salivation	10846	PDE10A	ORPHA:494526
HP:0100755	Abnormality of salivation	10846	PDE10A	OMIM:616921
HP:0100755	Abnormality of salivation	5063	PAK3	OMIM:300558
HP:0100755	Abnormality of salivation	6711	SPTBN1	OMIM:619475
HP:0100755	Abnormality of salivation	3747	KCNC2	OMIM:619913
HP:0100755	Abnormality of salivation	27286	SRPX2	ORPHA:163721
HP:0100755	Abnormality of salivation	27286	SRPX2	ORPHA:98889
HP:0100755	Abnormality of salivation	27286	SRPX2	ORPHA:1945
HP:0100755	Abnormality of salivation	2903	GRIN2A	ORPHA:163721
HP:0100755	Abnormality of salivation	2903	GRIN2A	ORPHA:1945
HP:0100755	Abnormality of salivation	4361	MRE11	ORPHA:251347
HP:0100755	Abnormality of salivation	9289	ADGRG1	ORPHA:98889
HP:0100755	Abnormality of salivation	5297	PI4KA	ORPHA:98889
HP:0100755	Abnormality of salivation	6638	SNRPN	OMIM:105830
HP:0100755	Abnormality of salivation	6638	SNRPN	ORPHA:411515
HP:0100755	Abnormality of salivation	6326	SCN2A	ORPHA:33069
HP:0100755	Abnormality of salivation	2554	GABRA1	ORPHA:33069
HP:0100755	Abnormality of salivation	6323	SCN1A	ORPHA:33069
HP:0100755	Abnormality of salivation	6324	SCN1B	ORPHA:33069
HP:0100755	Abnormality of salivation	57526	PCDH19	ORPHA:33069
HP:0100755	Abnormality of salivation	2566	GABRG2	ORPHA:33069
HP:0100755	Abnormality of salivation	2566	GABRG2	ORPHA:1945
HP:0100755	Abnormality of salivation	11128	POLR3A	ORPHA:447896
HP:0100755	Abnormality of salivation	11128	POLR3A	OMIM:607694
HP:0100755	Abnormality of salivation	1737	DLAT	OMIM:245348
HP:0100755	Abnormality of salivation	55617	TASP1	OMIM:618950
HP:0100755	Abnormality of salivation	4841	NONO	OMIM:300967
HP:0100755	Abnormality of salivation	6472	SHMT2	OMIM:619121
HP:0100755	Abnormality of salivation	23230	VPS13A	OMIM:200150
HP:0100755	Abnormality of salivation	347733	TUBB2B	OMIM:610031
HP:0100755	Abnormality of salivation	23261	CAMTA1	OMIM:614756
HP:0100755	Abnormality of salivation	5376	PMP22	ORPHA:98916
HP:0100755	Abnormality of salivation	6509	SLC1A4	OMIM:616657
HP:0100755	Abnormality of salivation	8911	CACNA1I	OMIM:620114
HP:0100755	Abnormality of salivation	388015	RTL1	ORPHA:96334
HP:0100755	Abnormality of salivation	8788	DLK1	ORPHA:96334
HP:0100755	Abnormality of salivation	55384	MEG3	ORPHA:96334
HP:0100755	Abnormality of salivation	540	ATP7B	OMIM:277900
HP:0100755	Abnormality of salivation	9568	GABBR2	OMIM:617904
HP:0100755	Abnormality of salivation	2799	GNS	OMIM:252940
HP:0100755	Abnormality of salivation	84628	NTNG2	OMIM:618718
HP:0100755	Abnormality of salivation	55739	NAXD	OMIM:618321
HP:0100755	Abnormality of salivation	259232	NALCN	OMIM:616266
HP:0100755	Abnormality of salivation	27086	FOXP1	OMIM:613670
HP:0100755	Abnormality of salivation	57679	ALS2	OMIM:205100
HP:0100755	Abnormality of salivation	546	ATRX	OMIM:309580
HP:0100755	Abnormality of salivation	5455	POU3F3	OMIM:618604
HP:0100755	Abnormality of salivation	9487	PIGL	OMIM:280000
HP:0100755	Abnormality of salivation	8831	SYNGAP1	OMIM:612621
HP:0100755	Abnormality of salivation	23219	FBXO28	OMIM:619777
HP:0100755	Abnormality of salivation	84842	HPDL	OMIM:619026
HP:0100755	Abnormality of salivation	1968	EIF2S3	OMIM:300148
HP:0100755	Abnormality of salivation	170302	ARX	OMIM:300419
HP:0100755	Abnormality of salivation	79628	SH3TC2	ORPHA:99949
HP:0100755	Abnormality of salivation	9230	RAB11B	OMIM:617807
HP:0100755	Abnormality of salivation	57194	ATP10A	ORPHA:411515
HP:0100755	Abnormality of salivation	55703	POLR3B	OMIM:607694
HP:0100755	Abnormality of salivation	5805	PTS	ORPHA:13
HP:0100755	Abnormality of salivation	5805	PTS	OMIM:261640
HP:0100755	Abnormality of salivation	3106	HLA-B	ORPHA:36426
HP:0100755	Abnormality of salivation	10320	IKZF1	ORPHA:36426
HP:0100755	Abnormality of salivation	4204	MECP2	OMIM:300055
HP:0100755	Abnormality of salivation	5860	QDPR	OMIM:261630
HP:0100755	Abnormality of salivation	55697	VAC14	OMIM:617054
HP:0100755	Abnormality of salivation	2290	FOXG1	ORPHA:261144
HP:0100755	Abnormality of salivation	374654	KIF7	OMIM:200990
HP:0100755	Abnormality of salivation	57468	SLC12A5	OMIM:616645
HP:0100755	Abnormality of salivation	2643	GCH1	OMIM:233910
HP:0100755	Abnormality of salivation	9256	TSPOAP1	ORPHA:101150
HP:0100755	Abnormality of salivation	7054	TH	ORPHA:101150
HP:0100755	Abnormality of salivation	710	SERPING1	ORPHA:100050
HP:0100757	Pancreatoblastoma	23476	BRD4	ORPHA:443167
HP:0100757	Pancreatoblastoma	256646	NUTM1	ORPHA:443167
HP:0100758	Gangrene	26191	PTPN22	ORPHA:397
HP:0100758	Gangrene	26191	PTPN22	ORPHA:900
HP:0100758	Gangrene	3106	HLA-B	ORPHA:397
HP:0100758	Gangrene	3106	HLA-B	ORPHA:3287
HP:0100758	Gangrene	3106	HLA-B	ORPHA:117
HP:0100758	Gangrene	3123	HLA-DRB1	ORPHA:397
HP:0100758	Gangrene	8974	P4HA2	ORPHA:397
HP:0100758	Gangrene	1493	CTLA4	ORPHA:3162
HP:0100758	Gangrene	1493	CTLA4	ORPHA:900
HP:0100758	Gangrene	940	CD28	ORPHA:3162
HP:0100758	Gangrene	7133	TNFRSF1B	ORPHA:3162
HP:0100758	Gangrene	5167	ENPP1	ORPHA:51608
HP:0100758	Gangrene	368	ABCC6	ORPHA:51608
HP:0100758	Gangrene	189	AGXT	OMIM:259900
HP:0100758	Gangrene	847	CAT	ORPHA:926
HP:0100758	Gangrene	3593	IL12B	ORPHA:3287
HP:0100758	Gangrene	6945	MLX	ORPHA:3287
HP:0100758	Gangrene	3115	HLA-DPB1	ORPHA:900
HP:0100758	Gangrene	5657	PRTN3	ORPHA:900
HP:0100758	Gangrene	3113	HLA-DPA1	ORPHA:900
HP:0100758	Gangrene	5627	PROS1	ORPHA:743
HP:0100758	Gangrene	5624	PROC	ORPHA:745
HP:0100758	Gangrene	6774	STAT3	ORPHA:520
HP:0100758	Gangrene	5371	PML	ORPHA:520
HP:0100758	Gangrene	5914	RARA	ORPHA:520
HP:0100758	Gangrene	359948	IRF2BP2	ORPHA:520
HP:0100758	Gangrene	81608	FIP1L1	ORPHA:520
HP:0100758	Gangrene	4869	NPM1	ORPHA:520
HP:0100758	Gangrene	5573	PRKAR1A	ORPHA:520
HP:0100758	Gangrene	54880	BCOR	ORPHA:520
HP:0100758	Gangrene	64859	NABP1	ORPHA:520
HP:0100758	Gangrene	6777	STAT5B	ORPHA:520
HP:0100758	Gangrene	4926	NUMA1	ORPHA:520
HP:0100758	Gangrene	7704	ZBTB16	ORPHA:520
HP:0100758	Gangrene	79718	TBL1XR1	ORPHA:520
HP:0100758	Gangrene	3832	KIF11	ORPHA:2526
HP:0100758	Gangrene	151516	ASPRV1	ORPHA:313
HP:0100758	Gangrene	242	ALOX12B	ORPHA:313
HP:0100758	Gangrene	126410	CYP4F22	ORPHA:313
HP:0100758	Gangrene	6820	SULT2B1	ORPHA:313
HP:0100758	Gangrene	26154	ABCA12	ORPHA:313
HP:0100758	Gangrene	643418	LIPN	ORPHA:313
HP:0100758	Gangrene	59344	ALOXE3	ORPHA:313
HP:0100758	Gangrene	348938	NIPAL4	ORPHA:313
HP:0100758	Gangrene	121214	SDR9C7	ORPHA:313
HP:0100758	Gangrene	7051	TGM1	ORPHA:313
HP:0100758	Gangrene	149233	IL23R	ORPHA:117
HP:0100758	Gangrene	6775	STAT4	ORPHA:117
HP:0100758	Gangrene	3586	IL10	ORPHA:117
HP:0100758	Gangrene	4210	MEFV	ORPHA:117
HP:0100758	Gangrene	1230	CCR1	ORPHA:117
HP:0100758	Gangrene	355	FAS	ORPHA:117
HP:0100758	Gangrene	3592	IL12A	ORPHA:117
HP:0100758	Gangrene	101928376	IL12A-AS1	ORPHA:117
HP:0100758	Gangrene	7099	TLR4	ORPHA:117
HP:0100758	Gangrene	3459	IFNGR1	ORPHA:117
HP:0100758	Gangrene	720	C4A	ORPHA:117
HP:0100758	Gangrene	337867	UBAC2	ORPHA:117
HP:0100758	Gangrene	51752	ERAP1	ORPHA:117
HP:0100758	Gangrene	8302	KLRC4	ORPHA:117
HP:0100759	Clubbing of fingers	3187	HNRNPH1	OMIM:620083
HP:0100759	Clubbing of fingers	2212	FCGR2A	OMIM:219700
HP:0100759	Clubbing of fingers	7040	TGFB1	OMIM:219700
HP:0100759	Clubbing of fingers	1080	CFTR	OMIM:219700
HP:0100759	Clubbing of fingers	3071	NCKAP1L	OMIM:618982
HP:0100759	Clubbing of fingers	5745	PTH1R	OMIM:156400
HP:0100759	Clubbing of fingers	114548	NLRP3	OMIM:191900
HP:0100759	Clubbing of fingers	182	JAG1	OMIM:619574
HP:0100759	Clubbing of fingers	7015	TERT	OMIM:614742
HP:0100759	Clubbing of fingers	7015	TERT	ORPHA:2032
HP:0100759	Clubbing of fingers	7015	TERT	OMIM:178500
HP:0100759	Clubbing of fingers	6794	STK11	OMIM:175200
HP:0100759	Clubbing of fingers	987	LRBA	OMIM:614700
HP:0100759	Clubbing of fingers	6578	SLCO2A1	OMIM:167100
HP:0100759	Clubbing of fingers	6440	SFTPC	ORPHA:2032
HP:0100759	Clubbing of fingers	6440	SFTPC	OMIM:178500
HP:0100759	Clubbing of fingers	729238	SFTPA2	ORPHA:2032
HP:0100759	Clubbing of fingers	729238	SFTPA2	OMIM:178500
HP:0100759	Clubbing of fingers	79991	STN1	ORPHA:2032
HP:0100759	Clubbing of fingers	653509	SFTPA1	ORPHA:2032
HP:0100759	Clubbing of fingers	21	ABCA3	ORPHA:2032
HP:0100759	Clubbing of fingers	1832	DSP	ORPHA:2032
HP:0100759	Clubbing of fingers	1832	DSP	OMIM:605676
HP:0100759	Clubbing of fingers	727897	MUC5B	ORPHA:2032
HP:0100759	Clubbing of fingers	727897	MUC5B	OMIM:178500
HP:0100759	Clubbing of fingers	10144	FAM13A	ORPHA:2032
HP:0100759	Clubbing of fingers	23250	ATP11A	ORPHA:2032
HP:0100759	Clubbing of fingers	91039	DPP9	ORPHA:2032
HP:0100759	Clubbing of fingers	51750	RTEL1	ORPHA:2032
HP:0100759	Clubbing of fingers	7012	TERC	ORPHA:2032
HP:0100759	Clubbing of fingers	5073	PARN	ORPHA:2032
HP:0100759	Clubbing of fingers	3339	HSPG2	ORPHA:1865
HP:0100759	Clubbing of fingers	10804	GJB6	ORPHA:189
HP:0100759	Clubbing of fingers	440275	EIF2AK4	ORPHA:199241
HP:0100759	Clubbing of fingers	1604	CD55	OMIM:226300
HP:0100759	Clubbing of fingers	10568	SLC34A2	ORPHA:60025
HP:0100759	Clubbing of fingers	8884	SLC5A6	OMIM:618973
HP:0100759	Clubbing of fingers	10125	RASGRP1	OMIM:618534
HP:0100759	Clubbing of fingers	3248	HPGD	ORPHA:217059
HP:0100759	Clubbing of fingers	59067	IL21	OMIM:615767
HP:0100759	Clubbing of fingers	5728	PTEN	ORPHA:79076
HP:0100759	Clubbing of fingers	657	BMPR1A	ORPHA:79076
HP:0100759	Clubbing of fingers	5696	PSMB8	OMIM:256040
HP:0100759	Clubbing of fingers	27152	INTU	OMIM:617926
HP:0100759	Clubbing of fingers	7092	TLL1	ORPHA:99106
HP:0001009	Telangiectasia	3978	LIG1	OMIM:619774
HP:0001009	Telangiectasia	23328	SASH1	OMIM:618373
HP:0001009	Telangiectasia	4683	NBN	OMIM:251260
HP:0001009	Telangiectasia	5648	MASP1	OMIM:257920
HP:0001009	Telangiectasia	23064	SETX	OMIM:606002
HP:0001009	Telangiectasia	5190	PEX6	ORPHA:95433
HP:0001009	Telangiectasia	5476	CTSA	OMIM:256540
HP:0001009	Telangiectasia	2776	GNAQ	ORPHA:3205
HP:0001009	Telangiectasia	64840	PORCN	OMIM:305600
HP:0001009	Telangiectasia	11277	TREX1	OMIM:192315
HP:0001009	Telangiectasia	11277	TREX1	ORPHA:247691
HP:0001009	Telangiectasia	1643	DDB2	OMIM:278740
HP:0001009	Telangiectasia	1643	DDB2	ORPHA:910
HP:0001009	Telangiectasia	11284	PNKP	ORPHA:459033
HP:0001009	Telangiectasia	5728	PTEN	ORPHA:109
HP:0001009	Telangiectasia	5590	PRKCZ	ORPHA:1606
HP:0001009	Telangiectasia	2563	GABRD	ORPHA:1606
HP:0001009	Telangiectasia	23013	SPEN	ORPHA:1606
HP:0001009	Telangiectasia	8510	MMP23B	ORPHA:1606
HP:0001009	Telangiectasia	7798	LUZP1	ORPHA:1606
HP:0001009	Telangiectasia	6497	SKI	ORPHA:1606
HP:0001009	Telangiectasia	10630	PDPN	ORPHA:1606
HP:0001009	Telangiectasia	3339	HSPG2	ORPHA:1606
HP:0001009	Telangiectasia	10277	UBE4B	ORPHA:1606
HP:0001009	Telangiectasia	8514	KCNAB2	ORPHA:1606
HP:0001009	Telangiectasia	473	RERE	ORPHA:1606
HP:0001009	Telangiectasia	63976	PRDM16	ORPHA:1606
HP:0001009	Telangiectasia	54897	CASZ1	ORPHA:1606
HP:0001009	Telangiectasia	1729	DIAPH1	ORPHA:2573
HP:0001009	Telangiectasia	59	ACTA2	ORPHA:2573
HP:0001009	Telangiectasia	57674	RNF213	ORPHA:2573
HP:0001009	Telangiectasia	7507	XPA	OMIM:278700
HP:0001009	Telangiectasia	7507	XPA	ORPHA:910
HP:0001009	Telangiectasia	79650	USB1	OMIM:604173
HP:0001009	Telangiectasia	83605	CCM2	OMIM:603284
HP:0001009	Telangiectasia	3981	LIG4	OMIM:606593
HP:0001009	Telangiectasia	9401	RECQL4	OMIM:268400
HP:0001009	Telangiectasia	6888	TALDO1	ORPHA:101028
HP:0001009	Telangiectasia	6888	TALDO1	OMIM:606003
HP:0001009	Telangiectasia	2050	EPHB4	OMIM:618196
HP:0001009	Telangiectasia	2050	EPHB4	ORPHA:137667
HP:0001009	Telangiectasia	1294	COL7A1	ORPHA:158673
HP:0001009	Telangiectasia	4010	LMX1B	ORPHA:495818
HP:0001009	Telangiectasia	6812	STXBP1	ORPHA:495818
HP:0001009	Telangiectasia	5921	RASA1	ORPHA:137667
HP:0001009	Telangiectasia	2074	ERCC6	OMIM:600630
HP:0001009	Telangiectasia	2074	ERCC6	OMIM:278800
HP:0001009	Telangiectasia	8813	DPM1	OMIM:608799
HP:0001009	Telangiectasia	84992	PIGY	ORPHA:247262
HP:0001009	Telangiectasia	84720	PIGO	ORPHA:247262
HP:0001009	Telangiectasia	93210	PGAP3	ORPHA:247262
HP:0001009	Telangiectasia	284098	PIGW	ORPHA:247262
HP:0001009	Telangiectasia	27315	PGAP2	ORPHA:247262
HP:0001009	Telangiectasia	55650	PIGV	ORPHA:247262
HP:0001009	Telangiectasia	9487	PIGL	ORPHA:247262
HP:0001009	Telangiectasia	57654	UVSSA	OMIM:614640
HP:0001009	Telangiectasia	340061	STING1	OMIM:615934
HP:0001009	Telangiectasia	4361	MRE11	OMIM:604391
HP:0001009	Telangiectasia	7508	XPC	OMIM:278720
HP:0001009	Telangiectasia	7508	XPC	ORPHA:910
HP:0001009	Telangiectasia	2068	ERCC2	OMIM:601675
HP:0001009	Telangiectasia	2068	ERCC2	OMIM:278730
HP:0001009	Telangiectasia	2068	ERCC2	ORPHA:910
HP:0001009	Telangiectasia	659	BMPR2	OMIM:178600
HP:0001009	Telangiectasia	2658	GDF2	OMIM:615506
HP:0001009	Telangiectasia	165918	RNF168	ORPHA:420741
HP:0001009	Telangiectasia	4089	SMAD4	OMIM:175050
HP:0001009	Telangiectasia	4668	NAGA	ORPHA:79279
HP:0001009	Telangiectasia	2071	ERCC3	ORPHA:910
HP:0001009	Telangiectasia	2072	ERCC4	ORPHA:910
HP:0001009	Telangiectasia	2073	ERCC5	ORPHA:910
HP:0001009	Telangiectasia	3077	HFE	OMIM:235200
HP:0001009	Telangiectasia	650	BMP2	OMIM:235200
HP:0001009	Telangiectasia	4758	NEU1	ORPHA:93400
HP:0001009	Telangiectasia	64682	ANAPC1	ORPHA:221008
HP:0001009	Telangiectasia	94	ACVRL1	OMIM:600376
HP:0001009	Telangiectasia	2022	ENG	OMIM:187300
HP:0001009	Telangiectasia	54345	SOX18	OMIM:137940
HP:0001009	Telangiectasia	641	BLM	OMIM:210900
HP:0001009	Telangiectasia	170302	ARX	ORPHA:94083
HP:0001009	Telangiectasia	55315	SLC29A3	OMIM:602782
HP:0001009	Telangiectasia	55315	SLC29A3	ORPHA:168569
HP:0001009	Telangiectasia	1616	DAXX	ORPHA:100075
HP:0001009	Telangiectasia	546	ATRX	ORPHA:100075
HP:0001009	Telangiectasia	80326	WNT10A	ORPHA:50944
HP:0001009	Telangiectasia	55275	VPS53	OMIM:615851
HP:0001009	Telangiectasia	545	ATR	OMIM:614564
HP:0001009	Telangiectasia	6392	SDHD	ORPHA:100093
HP:0001009	Telangiectasia	10093	ARPC4	OMIM:620141
HP:0001009	Telangiectasia	79158	GNPTAB	ORPHA:576
HP:0001009	Telangiectasia	5426	POLE	OMIM:615139
HP:0001009	Telangiectasia	831	CAST	OMIM:616295
HP:0001009	Telangiectasia	81031	SLC2A10	OMIM:208050
HP:0001009	Telangiectasia	5184	PEPD	OMIM:170100
HP:0001009	Telangiectasia	3815	KIT	ORPHA:79455
HP:0001009	Telangiectasia	3815	KIT	OMIM:154800
HP:0001009	Telangiectasia	80169	CTC1	OMIM:612199
HP:0001009	Telangiectasia	84277	DNAJC30	OMIM:619382
HP:0001009	Telangiectasia	84277	DNAJC30	ORPHA:104
HP:0001009	Telangiectasia	2483	FRG1	OMIM:158900
HP:0001009	Telangiectasia	29072	SETD2	OMIM:620157
HP:0001009	Telangiectasia	29072	SETD2	OMIM:620155
HP:0001009	Telangiectasia	79991	STN1	OMIM:617341
HP:0001009	Telangiectasia	4535	MT-ND1	ORPHA:104
HP:0001009	Telangiectasia	4536	MT-ND2	ORPHA:104
HP:0001009	Telangiectasia	4538	MT-ND4	ORPHA:104
HP:0001009	Telangiectasia	4720	NDUFS2	ORPHA:104
HP:0001009	Telangiectasia	4512	MT-CO1	ORPHA:104
HP:0001009	Telangiectasia	4514	MT-CO3	ORPHA:104
HP:0001009	Telangiectasia	4519	MT-CYB	ORPHA:104
HP:0001009	Telangiectasia	4508	MT-ATP6	ORPHA:104
HP:0001009	Telangiectasia	4540	MT-ND5	ORPHA:104
HP:0001009	Telangiectasia	4541	MT-ND6	ORPHA:104
HP:0001009	Telangiectasia	4539	MT-ND4L	ORPHA:104
HP:0001009	Telangiectasia	2859	GPR35	ORPHA:171
HP:0001009	Telangiectasia	10507	SEMA4D	ORPHA:171
HP:0001009	Telangiectasia	4485	MST1	ORPHA:171
HP:0001009	Telangiectasia	6925	TCF4	ORPHA:171
HP:0001009	Telangiectasia	2542	SLC37A4	OMIM:232240
HP:0001009	Telangiectasia	4693	NDP	ORPHA:891
HP:0001009	Telangiectasia	1499	CTNNB1	ORPHA:891
HP:0001009	Telangiectasia	23554	TSPAN12	ORPHA:891
HP:0001009	Telangiectasia	4041	LRP5	ORPHA:891
HP:0001009	Telangiectasia	79797	ZNF408	ORPHA:891
HP:0001009	Telangiectasia	8322	FZD4	ORPHA:891
HP:0001009	Telangiectasia	5429	POLH	OMIM:278750
HP:0001009	Telangiectasia	5111	PCNA	OMIM:615919
HP:0001009	Telangiectasia	10483	SEC23B	ORPHA:201
HP:0001009	Telangiectasia	6390	SDHB	ORPHA:201
HP:0001009	Telangiectasia	6391	SDHC	ORPHA:201
HP:0001009	Telangiectasia	207	AKT1	ORPHA:201
HP:0001009	Telangiectasia	205717	USF3	ORPHA:201
HP:0001009	Telangiectasia	100144748	KLLN	ORPHA:201
HP:0001009	Telangiectasia	5290	PIK3CA	ORPHA:276280
HP:0001009	Telangiectasia	5290	PIK3CA	ORPHA:60040
HP:0001009	Telangiectasia	55699	IARS2	OMIM:616007
HP:0001009	Telangiectasia	118429	ANTXR2	ORPHA:2176
HP:0001009	Telangiectasia	7518	XRCC4	ORPHA:99812
HP:0001009	Telangiectasia	1540	CYLD	ORPHA:867
HP:0001009	Telangiectasia	1540	CYLD	ORPHA:211
HP:0001009	Telangiectasia	7486	WRN	ORPHA:902
HP:0001009	Telangiectasia	1235	CCR6	ORPHA:220402
HP:0001009	Telangiectasia	1235	CCR6	ORPHA:220393
HP:0001009	Telangiectasia	79932	KIAA0319L	ORPHA:220402
HP:0001009	Telangiectasia	1490	CCN2	ORPHA:220402
HP:0001009	Telangiectasia	1490	CCN2	ORPHA:220393
HP:0001009	Telangiectasia	3663	IRF5	ORPHA:220402
HP:0001009	Telangiectasia	3663	IRF5	ORPHA:220393
HP:0001009	Telangiectasia	857	CAV1	ORPHA:220402
HP:0001009	Telangiectasia	857	CAV1	ORPHA:220393
HP:0001009	Telangiectasia	3123	HLA-DRB1	ORPHA:220402
HP:0001009	Telangiectasia	3123	HLA-DRB1	ORPHA:220393
HP:0001009	Telangiectasia	11322	TMC6	ORPHA:302
HP:0001009	Telangiectasia	3574	IL7	ORPHA:302
HP:0001009	Telangiectasia	147138	TMC8	ORPHA:302
HP:0001009	Telangiectasia	10519	CIB1	ORPHA:302
HP:0001009	Telangiectasia	8517	IKBKG	ORPHA:464
HP:0001009	Telangiectasia	472	ATM	ORPHA:100
HP:0001009	Telangiectasia	63916	ELMO2	ORPHA:3019
HP:0001009	Telangiectasia	55612	FERMT1	OMIM:173650
HP:0001009	Telangiectasia	2767	GNA11	ORPHA:1556
HP:0001009	Telangiectasia	151188	ARL6IP6	ORPHA:1556
HP:0001009	Telangiectasia	4000	LMNA	OMIM:212112
HP:0001009	Telangiectasia	4000	LMNA	ORPHA:79474
HP:0001009	Telangiectasia	2717	GLA	ORPHA:324
HP:0001009	Telangiectasia	1281	COL3A1	ORPHA:286
HP:0001009	Telangiectasia	1281	COL3A1	ORPHA:2500
HP:0001009	Telangiectasia	5424	POLD1	OMIM:615381
HP:0001009	Telangiectasia	26277	TINF2	ORPHA:1775
HP:0001009	Telangiectasia	55651	NHP2	ORPHA:1775
HP:0001009	Telangiectasia	55135	WRAP53	ORPHA:1775
HP:0001009	Telangiectasia	51750	RTEL1	ORPHA:1775
HP:0001009	Telangiectasia	4869	NPM1	ORPHA:1775
HP:0001009	Telangiectasia	7012	TERC	ORPHA:1775
HP:0001009	Telangiectasia	55505	NOP10	ORPHA:1775
HP:0001009	Telangiectasia	5073	PARN	ORPHA:1775
HP:0001009	Telangiectasia	7015	TERT	ORPHA:1775
HP:0001009	Telangiectasia	1736	DKC1	ORPHA:1775
HP:0001009	Telangiectasia	7298	TYMS	ORPHA:1775
HP:0001009	Telangiectasia	5167	ENPP1	ORPHA:758
HP:0001009	Telangiectasia	368	ABCC6	ORPHA:758
HP:0001009	Telangiectasia	4763	NF1	ORPHA:97685
HP:0001009	Telangiectasia	3930	LBR	OMIM:613471
HP:0001008	Accumulation of melanosomes in melanocytes	5873	RAB27A	OMIM:607624
HP:0001008	Accumulation of melanosomes in melanocytes	4644	MYO5A	OMIM:214450
HP:0001005	Dermatological manifestations of systemic disorders	3561	IL2RG	ORPHA:276
HP:0001005	Dermatological manifestations of systemic disorders	3376	IARS1	OMIM:617093
HP:0001005	Dermatological manifestations of systemic disorders	229	ALDOB	OMIM:229600
HP:0001005	Dermatological manifestations of systemic disorders	229	ALDOB	ORPHA:469
HP:0001005	Dermatological manifestations of systemic disorders	55532	SLC30A10	ORPHA:309854
HP:0001005	Dermatological manifestations of systemic disorders	8573	CASK	OMIM:300908
HP:0001005	Dermatological manifestations of systemic disorders	2539	G6PD	OMIM:300908
HP:0001005	Dermatological manifestations of systemic disorders	5830	PEX5	OMIM:214110
HP:0001005	Dermatological manifestations of systemic disorders	5830	PEX5	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	80270	HSD3B7	ORPHA:79301
HP:0001005	Dermatological manifestations of systemic disorders	80270	HSD3B7	OMIM:607765
HP:0001005	Dermatological manifestations of systemic disorders	5314	PKHD1	ORPHA:53035
HP:0001005	Dermatological manifestations of systemic disorders	5314	PKHD1	ORPHA:731
HP:0001005	Dermatological manifestations of systemic disorders	9420	CYP7B1	ORPHA:79302
HP:0001005	Dermatological manifestations of systemic disorders	9420	CYP7B1	OMIM:613812
HP:0001005	Dermatological manifestations of systemic disorders	2038	EPB42	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	2038	EPB42	OMIM:612690
HP:0001005	Dermatological manifestations of systemic disorders	6708	SPTA1	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	6708	SPTA1	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	286	ANK1	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	286	ANK1	OMIM:182900
HP:0001005	Dermatological manifestations of systemic disorders	6718	AKR1D1	ORPHA:79303
HP:0001005	Dermatological manifestations of systemic disorders	6718	AKR1D1	OMIM:235555
HP:0001005	Dermatological manifestations of systemic disorders	84936	ZFYVE19	OMIM:619849
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:143500
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:237900
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:606785
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:218800
HP:0001005	Dermatological manifestations of systemic disorders	55687	TRMU	OMIM:613070
HP:0001005	Dermatological manifestations of systemic disorders	60561	RINT1	OMIM:618641
HP:0001005	Dermatological manifestations of systemic disorders	2859	GPR35	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	10507	SEMA4D	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	4485	MST1	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	11232	POLG2	OMIM:618528
HP:0001005	Dermatological manifestations of systemic disorders	8942	KYNU	OMIM:236800
HP:0001005	Dermatological manifestations of systemic disorders	1716	DGUOK	OMIM:251880
HP:0001005	Dermatological manifestations of systemic disorders	2035	EPB41	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	2035	EPB41	OMIM:611804
HP:0001005	Dermatological manifestations of systemic disorders	2995	GYPC	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	1130	LYST	ORPHA:167
HP:0001005	Dermatological manifestations of systemic disorders	1130	LYST	OMIM:214500
HP:0001005	Dermatological manifestations of systemic disorders	5313	PKLR	OMIM:266200
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:614972
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:602347
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:600803
HP:0001005	Dermatological manifestations of systemic disorders	63894	VIPAS39	OMIM:613404
HP:0001005	Dermatological manifestations of systemic disorders	4645	MYO5B	OMIM:619868
HP:0001005	Dermatological manifestations of systemic disorders	2313	FLI1	ORPHA:370348
HP:0001005	Dermatological manifestations of systemic disorders	1244	ABCC2	ORPHA:234
HP:0001005	Dermatological manifestations of systemic disorders	1244	ABCC2	OMIM:237500
HP:0001005	Dermatological manifestations of systemic disorders	51594	NBAS	OMIM:616483
HP:0001005	Dermatological manifestations of systemic disorders	5311	PKD2	OMIM:613095
HP:0001005	Dermatological manifestations of systemic disorders	54914	FOCAD	OMIM:619991
HP:0001005	Dermatological manifestations of systemic disorders	10068	IL18BP	OMIM:618549
HP:0001005	Dermatological manifestations of systemic disorders	5828	PEX2	OMIM:614866
HP:0001005	Dermatological manifestations of systemic disorders	5828	PEX2	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	540	ATP7B	ORPHA:905
HP:0001005	Dermatological manifestations of systemic disorders	540	ATP7B	OMIM:277900
HP:0001005	Dermatological manifestations of systemic disorders	5265	SERPINA1	ORPHA:60
HP:0001005	Dermatological manifestations of systemic disorders	5428	POLG	OMIM:203700
HP:0001005	Dermatological manifestations of systemic disorders	5551	PRF1	OMIM:603553
HP:0001005	Dermatological manifestations of systemic disorders	5551	PRF1	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	8676	STX11	OMIM:603552
HP:0001005	Dermatological manifestations of systemic disorders	8676	STX11	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	9095	TBX19	OMIM:201400
HP:0001005	Dermatological manifestations of systemic disorders	9971	NR1H4	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	9971	NR1H4	OMIM:617049
HP:0001005	Dermatological manifestations of systemic disorders	55670	PEX26	OMIM:614872
HP:0001005	Dermatological manifestations of systemic disorders	55670	PEX26	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	10165	SLC25A13	ORPHA:247598
HP:0001005	Dermatological manifestations of systemic disorders	9409	PEX16	OMIM:614876
HP:0001005	Dermatological manifestations of systemic disorders	9409	PEX16	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	2729	GCLC	ORPHA:33574
HP:0001005	Dermatological manifestations of systemic disorders	91949	COG7	ORPHA:79333
HP:0001005	Dermatological manifestations of systemic disorders	91949	COG7	OMIM:608779
HP:0001005	Dermatological manifestations of systemic disorders	9968	MED12	OMIM:301068
HP:0001005	Dermatological manifestations of systemic disorders	811	CALR	ORPHA:131
HP:0001005	Dermatological manifestations of systemic disorders	2153	F5	ORPHA:131
HP:0001005	Dermatological manifestations of systemic disorders	11330	CTRC	ORPHA:103918
HP:0001005	Dermatological manifestations of systemic disorders	11330	CTRC	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	6690	SPINK1	ORPHA:103918
HP:0001005	Dermatological manifestations of systemic disorders	6690	SPINK1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	79989	IFT56	OMIM:619534
HP:0001005	Dermatological manifestations of systemic disorders	9652	SKIC3	OMIM:222470
HP:0001005	Dermatological manifestations of systemic disorders	5213	PFKM	OMIM:232800
HP:0001005	Dermatological manifestations of systemic disorders	54532	USP53	OMIM:619658
HP:0001005	Dermatological manifestations of systemic disorders	5195	PEX14	OMIM:614887
HP:0001005	Dermatological manifestations of systemic disorders	5195	PEX14	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	29929	ALG6	ORPHA:79320
HP:0001005	Dermatological manifestations of systemic disorders	5825	ABCD3	OMIM:616278
HP:0001005	Dermatological manifestations of systemic disorders	113220	KIF12	OMIM:619662
HP:0001005	Dermatological manifestations of systemic disorders	27429	HTRA2	OMIM:617248
HP:0001005	Dermatological manifestations of systemic disorders	5824	PEX19	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	8504	PEX3	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	8799	PEX11B	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5190	PEX6	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5189	PEX1	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5193	PEX12	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5194	PEX13	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5192	PEX10	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	6006	RHCE	ORPHA:71275
HP:0001005	Dermatological manifestations of systemic disorders	6007	RHD	ORPHA:71275
HP:0001005	Dermatological manifestations of systemic disorders	10159	ATP6AP2	OMIM:301045
HP:0001005	Dermatological manifestations of systemic disorders	3155	HMGCL	ORPHA:20
HP:0001005	Dermatological manifestations of systemic disorders	7167	TPI1	OMIM:615512
HP:0001005	Dermatological manifestations of systemic disorders	763	CA5A	OMIM:615751
HP:0001005	Dermatological manifestations of systemic disorders	84529	CDIN1	OMIM:615631
HP:0001005	Dermatological manifestations of systemic disorders	1798	DPAGT1	OMIM:608093
HP:0001005	Dermatological manifestations of systemic disorders	3875	KRT18	OMIM:215600
HP:0001005	Dermatological manifestations of systemic disorders	4023	LPL	OMIM:238600
HP:0001005	Dermatological manifestations of systemic disorders	201294	UNC13D	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	6813	STXBP2	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	672	BRCA1	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	672	BRCA1	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	675	BRCA2	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	675	BRCA2	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	5774	PTPN3	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	11093	ADAMTS13	OMIM:274150
HP:0001005	Dermatological manifestations of systemic disorders	3930	LBR	ORPHA:779
HP:0001005	Dermatological manifestations of systemic disorders	3930	LBR	OMIM:613471
HP:0001005	Dermatological manifestations of systemic disorders	9076	CLDN1	ORPHA:59303
HP:0001005	Dermatological manifestations of systemic disorders	9076	CLDN1	OMIM:607626
HP:0001005	Dermatological manifestations of systemic disorders	7849	PAX8	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	7849	PAX8	ORPHA:95712
HP:0001005	Dermatological manifestations of systemic disorders	7253	TSHR	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	5172	SLC26A4	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	2592	GALT	ORPHA:79239
HP:0001005	Dermatological manifestations of systemic disorders	51473	DCDC2	OMIM:617394
HP:0001005	Dermatological manifestations of systemic disorders	51218	GLRX5	OMIM:616860
HP:0001005	Dermatological manifestations of systemic disorders	2821	GPI	OMIM:613470
HP:0001005	Dermatological manifestations of systemic disorders	50619	DEF6	OMIM:619573
HP:0001005	Dermatological manifestations of systemic disorders	7019	TFAM	OMIM:617156
HP:0001005	Dermatological manifestations of systemic disorders	8260	NAA10	OMIM:300855
HP:0001005	Dermatological manifestations of systemic disorders	4358	MPV17	OMIM:256810
HP:0001005	Dermatological manifestations of systemic disorders	3431	SP110	ORPHA:79124
HP:0001005	Dermatological manifestations of systemic disorders	5277	PIGA	ORPHA:447
HP:0001005	Dermatological manifestations of systemic disorders	26276	VPS33B	OMIM:208085
HP:0001005	Dermatological manifestations of systemic disorders	26276	VPS33B	OMIM:620010
HP:0001005	Dermatological manifestations of systemic disorders	7289	TULP3	OMIM:619902
HP:0001005	Dermatological manifestations of systemic disorders	285282	RABL3	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	3845	KRAS	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	1029	CDKN2A	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	79728	PALB2	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	4089	SMAD4	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	23022	PALLD	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	84701	COX4I2	OMIM:612714
HP:0001005	Dermatological manifestations of systemic disorders	9493	KIF23	OMIM:105600
HP:0001005	Dermatological manifestations of systemic disorders	5873	RAB27A	ORPHA:79477
HP:0001005	Dermatological manifestations of systemic disorders	5644	PRSS1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	5645	PRSS2	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	846	CASR	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	1080	CFTR	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	1357	CPA1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	538	ATP7A	ORPHA:198
HP:0001005	Dermatological manifestations of systemic disorders	570	BAAT	OMIM:619232
HP:0001005	Dermatological manifestations of systemic disorders	6711	SPTBN1	OMIM:619475
HP:0001005	Dermatological manifestations of systemic disorders	6928	HNF1B	ORPHA:93111
HP:0001005	Dermatological manifestations of systemic disorders	286410	ATP11C	OMIM:301015
HP:0001005	Dermatological manifestations of systemic disorders	3594	IL12RB1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	23534	TNPO3	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	3592	IL12A	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	6689	SPIB	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	5450	POU2AF1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	9966	TNFSF15	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	79258	MMEL1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	3663	IRF5	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	10483	SEC23B	OMIM:224100
HP:0001005	Dermatological manifestations of systemic disorders	51124	IER3IP1	OMIM:614231
HP:0001005	Dermatological manifestations of systemic disorders	3098	HK1	OMIM:235700
HP:0001005	Dermatological manifestations of systemic disorders	226	ALDOA	OMIM:611881
HP:0001005	Dermatological manifestations of systemic disorders	100506658	OCLN	OMIM:251290
HP:0001005	Dermatological manifestations of systemic disorders	199221	DZIP1L	ORPHA:731
HP:0001005	Dermatological manifestations of systemic disorders	2215	FCGR3B	ORPHA:464370
HP:0001005	Dermatological manifestations of systemic disorders	10577	NPC2	OMIM:607625
HP:0001005	Dermatological manifestations of systemic disorders	7390	UROS	OMIM:263700
HP:0001005	Dermatological manifestations of systemic disorders	5449	POU1F1	OMIM:613038
HP:0001005	Dermatological manifestations of systemic disorders	25974	MMACHC	ORPHA:79282
HP:0001005	Dermatological manifestations of systemic disorders	1371	CPOX	OMIM:121300
HP:0001005	Dermatological manifestations of systemic disorders	1719	DHFR	OMIM:613839
HP:0001005	Dermatological manifestations of systemic disorders	9451	EIF2AK3	ORPHA:1667
HP:0001005	Dermatological manifestations of systemic disorders	37	ACADVL	ORPHA:26793
HP:0001005	Dermatological manifestations of systemic disorders	2108	ETFA	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	2109	ETFB	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	2110	ETFDH	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	3988	LIPA	ORPHA:75234
HP:0001005	Dermatological manifestations of systemic disorders	2582	GALE	OMIM:230350
HP:0001005	Dermatological manifestations of systemic disorders	94	ACVRL1	OMIM:600376
HP:0001005	Dermatological manifestations of systemic disorders	137814	NKX2-6	ORPHA:3384
HP:0001005	Dermatological manifestations of systemic disorders	23129	PLXND1	ORPHA:3384
HP:0001005	Dermatological manifestations of systemic disorders	51422	PRKAG2	OMIM:261740
HP:0001005	Dermatological manifestations of systemic disorders	4000	LMNA	OMIM:619793
HP:0001005	Dermatological manifestations of systemic disorders	4000	LMNA	ORPHA:740
HP:0001005	Dermatological manifestations of systemic disorders	5250	SLC25A3	ORPHA:91130
HP:0001005	Dermatological manifestations of systemic disorders	5250	SLC25A3	OMIM:610773
HP:0001005	Dermatological manifestations of systemic disorders	6334	SCN8A	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	112476	PRRT2	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	3048	HBG2	OMIM:613977
HP:0001005	Dermatological manifestations of systemic disorders	6440	SFTPC	OMIM:610913
HP:0001005	Dermatological manifestations of systemic disorders	6440	SFTPC	ORPHA:70587
HP:0001005	Dermatological manifestations of systemic disorders	6439	SFTPB	OMIM:265120
HP:0001005	Dermatological manifestations of systemic disorders	6439	SFTPB	ORPHA:70587
HP:0001005	Dermatological manifestations of systemic disorders	7547	ZIC3	OMIM:306955
HP:0001005	Dermatological manifestations of systemic disorders	2022	ENG	OMIM:187300
HP:0001005	Dermatological manifestations of systemic disorders	5105	PCK1	OMIM:261680
HP:0001005	Dermatological manifestations of systemic disorders	21	ABCA3	OMIM:610921
HP:0001005	Dermatological manifestations of systemic disorders	21	ABCA3	ORPHA:70587
HP:0001005	Dermatological manifestations of systemic disorders	118856	MMP21	OMIM:616749
HP:0001005	Dermatological manifestations of systemic disorders	83480	PUS3	ORPHA:488627
HP:0001005	Dermatological manifestations of systemic disorders	1528	CYB5A	OMIM:250790
HP:0001005	Dermatological manifestations of systemic disorders	1528	CYB5A	ORPHA:621
HP:0001005	Dermatological manifestations of systemic disorders	2898	GRIK2	OMIM:619580
HP:0001005	Dermatological manifestations of systemic disorders	440275	EIF2AK4	ORPHA:199241
HP:0001005	Dermatological manifestations of systemic disorders	788	SLC25A20	ORPHA:159
HP:0001005	Dermatological manifestations of systemic disorders	7092	TLL1	ORPHA:99106
HP:0001005	Dermatological manifestations of systemic disorders	7092	TLL1	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	3028	HSD17B10	ORPHA:391428
HP:0001005	Dermatological manifestations of systemic disorders	5337	PLD1	OMIM:212093
HP:0001005	Dermatological manifestations of systemic disorders	57057	TBX20	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	4624	MYH6	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	1482	NKX2-5	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	70	ACTC1	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	10370	CITED2	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	2626	GATA4	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	2627	GATA6	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	1727	CYB5R3	OMIM:250800
HP:0001005	Dermatological manifestations of systemic disorders	1727	CYB5R3	ORPHA:621
HP:0001005	Dermatological manifestations of systemic disorders	55975	KLHL7	OMIM:617055
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	OMIM:617971
HP:0001005	Dermatological manifestations of systemic disorders	5167	ENPP1	ORPHA:51608
HP:0001005	Dermatological manifestations of systemic disorders	368	ABCC6	ORPHA:51608
HP:0001005	Dermatological manifestations of systemic disorders	3039	HBA1	OMIM:617973
HP:0001005	Dermatological manifestations of systemic disorders	4519	MT-CYB	ORPHA:137675
HP:0001005	Dermatological manifestations of systemic disorders	8021	NUP214	OMIM:618426
HP:0001005	Dermatological manifestations of systemic disorders	79770	TXNDC15	OMIM:619879
HP:0001005	Dermatological manifestations of systemic disorders	3123	HLA-DRB1	ORPHA:747
HP:0001005	Dermatological manifestations of systemic disorders	10269	ZMPSTE24	ORPHA:740
HP:0001005	Dermatological manifestations of systemic disorders	60482	SLC5A7	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	4649	MYO9A	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	1305	COL13A1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	1305	COL13A1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1103	CHAT	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6576	SLC25A1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6843	VAMP1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	375790	AGRN	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	375790	AGRN	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	127833	SYT2	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6572	SLC18A3	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6572	SLC18A3	OMIM:617239
HP:0001005	Dermatological manifestations of systemic disorders	6616	SNAP25	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6329	SCN4A	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1134	CHRNA1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	4038	LRP4	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1140	CHRNB1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1144	CHRND	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1145	CHRNE	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	4593	MUSK	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	5913	RAPSN	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	221264	AK9	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	285489	DOK7	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	8241	RBM10	ORPHA:2886
HP:0001005	Dermatological manifestations of systemic disorders	4724	NDUFS4	OMIM:252010
HP:0001005	Dermatological manifestations of systemic disorders	54916	TMEM260	OMIM:617478
HP:0001005	Dermatological manifestations of systemic disorders	10568	SLC34A2	ORPHA:60025
HP:0001005	Dermatological manifestations of systemic disorders	80199	FUZ	ORPHA:1136
HP:0001005	Dermatological manifestations of systemic disorders	84705	GTPBP3	ORPHA:444013
HP:0001005	Dermatological manifestations of systemic disorders	6513	SLC2A1	ORPHA:71277
HP:0001005	Dermatological manifestations of systemic disorders	1616	DAXX	ORPHA:100075
HP:0001005	Dermatological manifestations of systemic disorders	2934	GSN	ORPHA:85448
HP:0001005	Dermatological manifestations of systemic disorders	5624	PROC	OMIM:176860
HP:0001005	Dermatological manifestations of systemic disorders	5624	PROC	ORPHA:745
HP:0001005	Dermatological manifestations of systemic disorders	5627	PROS1	OMIM:612336
HP:0001005	Dermatological manifestations of systemic disorders	5205	ATP8B1	OMIM:243300
HP:0001005	Dermatological manifestations of systemic disorders	8647	ABCB11	OMIM:601847
HP:0001005	Dermatological manifestations of systemic disorders	28234	SLCO1B3	ORPHA:3111
HP:0001005	Dermatological manifestations of systemic disorders	10599	SLCO1B1	ORPHA:3111
HP:0001005	Dermatological manifestations of systemic disorders	6710	SPTB	OMIM:617948
HP:0001005	Dermatological manifestations of systemic disorders	6521	SLC4A1	ORPHA:3202
HP:0001005	Dermatological manifestations of systemic disorders	9780	PIEZO1	ORPHA:3202
HP:0001005	Dermatological manifestations of systemic disorders	3783	KCNN4	ORPHA:3202
HP:0001005	Dermatological manifestations of systemic disorders	6005	RHAG	ORPHA:3203
HP:0001005	Dermatological manifestations of systemic disorders	3717	JAK2	OMIM:133100
HP:0001005	Dermatological manifestations of systemic disorders	10019	SH2B3	OMIM:133100
HP:0001005	Dermatological manifestations of systemic disorders	2057	EPOR	OMIM:133100
HP:0001005	Dermatological manifestations of systemic disorders	79798	ARMC5	ORPHA:189427
HP:0001005	Dermatological manifestations of systemic disorders	2778	GNAS	ORPHA:189427
HP:0001005	Dermatological manifestations of systemic disorders	5566	PRKACA	ORPHA:189439
HP:0001005	Dermatological manifestations of systemic disorders	8622	PDE8B	ORPHA:189439
HP:0001005	Dermatological manifestations of systemic disorders	5573	PRKAR1A	ORPHA:189439
HP:0001005	Dermatological manifestations of systemic disorders	50940	PDE11A	ORPHA:189439
HP:0001005	Dermatological manifestations of systemic disorders	84196	USP48	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	7157	TP53	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	9101	USP8	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	64072	CDH23	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	2908	NR3C1	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	673	BRAF	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	546	ATRX	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	7428	VHL	OMIM:263400
HP:0001005	Dermatological manifestations of systemic disorders	23474	ETHE1	ORPHA:51188
HP:0001005	Dermatological manifestations of systemic disorders	23474	ETHE1	OMIM:602473
HP:0001005	Dermatological manifestations of systemic disorders	8518	ELP1	OMIM:223900
HP:0001005	Dermatological manifestations of systemic disorders	8518	ELP1	ORPHA:1764
HP:0001005	Dermatological manifestations of systemic disorders	6197	RPS6KA3	OMIM:303600
HP:0001005	Dermatological manifestations of systemic disorders	189	AGXT	OMIM:259900
HP:0001005	Dermatological manifestations of systemic disorders	2517	FUCA1	ORPHA:349
HP:0001005	Dermatological manifestations of systemic disorders	6925	TCF4	ORPHA:2896
HP:0001005	Dermatological manifestations of systemic disorders	4598	MVK	ORPHA:343
HP:0001005	Dermatological manifestations of systemic disorders	1277	COL1A1	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	1289	COL5A1	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	1290	COL5A2	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	11277	TREX1	OMIM:225750
HP:0001005	Dermatological manifestations of systemic disorders	11277	TREX1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	10801	SEPTIN9	ORPHA:2901
HP:0001005	Dermatological manifestations of systemic disorders	10535	RNASEH2A	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	84153	RNASEH2C	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	25939	SAMHD1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	79621	RNASEH2B	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	103	ADAR	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	100147744	RNU7-1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	134353	LSM11	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	64135	IFIH1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	5077	PAX3	ORPHA:896
HP:0001005	Dermatological manifestations of systemic disorders	10664	CTCF	ORPHA:363611
HP:0001005	Dermatological manifestations of systemic disorders	23446	SLC44A1	OMIM:618868
HP:0001005	Dermatological manifestations of systemic disorders	5626	PROP1	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	89884	LHX4	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	8022	LHX3	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	8820	HESX1	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	1593	CYP27A1	ORPHA:909
HP:0001005	Dermatological manifestations of systemic disorders	100151683	RNU4ATAC	OMIM:210710
HP:0001005	Dermatological manifestations of systemic disorders	2584	GALK1	OMIM:230200
HP:0001005	Dermatological manifestations of systemic disorders	23600	AMACR	OMIM:214950
HP:0001005	Dermatological manifestations of systemic disorders	8405	SPOP	OMIM:618828
HP:0001005	Dermatological manifestations of systemic disorders	8085	KMT2D	OMIM:620186
HP:0001005	Dermatological manifestations of systemic disorders	6609	SMPD1	OMIM:257200
HP:0001005	Dermatological manifestations of systemic disorders	64324	NSD1	ORPHA:821
HP:0001005	Dermatological manifestations of systemic disorders	64324	NSD1	OMIM:117550
HP:0001005	Dermatological manifestations of systemic disorders	29072	SETD2	ORPHA:821
HP:0001005	Dermatological manifestations of systemic disorders	10297	APC2	ORPHA:821
HP:0001005	Dermatological manifestations of systemic disorders	123264	SLC51B	OMIM:619481
HP:0001005	Dermatological manifestations of systemic disorders	5631	PRPS1	ORPHA:423479
HP:0001005	Dermatological manifestations of systemic disorders	200894	ARL13B	OMIM:612291
HP:0001005	Dermatological manifestations of systemic disorders	10525	HYOU1	OMIM:233600
HP:0001005	Dermatological manifestations of systemic disorders	5184	PEPD	OMIM:170100
HP:0001005	Dermatological manifestations of systemic disorders	50506	DUOX2	ORPHA:226316
HP:0001005	Dermatological manifestations of systemic disorders	50506	DUOX2	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	55904	KMT2E	OMIM:618512
HP:0001005	Dermatological manifestations of systemic disorders	182	JAG1	OMIM:118450
HP:0001005	Dermatological manifestations of systemic disorders	2542	SLC37A4	OMIM:619525
HP:0001005	Dermatological manifestations of systemic disorders	25973	PARS2	OMIM:618437
HP:0001005	Dermatological manifestations of systemic disorders	7252	TSHB	ORPHA:90674
HP:0001005	Dermatological manifestations of systemic disorders	6554	SLC10A1	OMIM:619256
HP:0001005	Dermatological manifestations of systemic disorders	55898	UNC45A	OMIM:619377
HP:0001005	Dermatological manifestations of systemic disorders	537	ATP6AP1	OMIM:300972
HP:0001005	Dermatological manifestations of systemic disorders	130589	GALM	OMIM:618881
HP:0001005	Dermatological manifestations of systemic disorders	8565	YARS1	OMIM:619418
HP:0001005	Dermatological manifestations of systemic disorders	405753	DUOXA2	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	6528	SLC5A5	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	7038	TG	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	7173	TPO	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	389434	IYD	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	84317	CCDC115	OMIM:616828
HP:0001005	Dermatological manifestations of systemic disorders	4864	NPC1	OMIM:257220
HP:0001005	Dermatological manifestations of systemic disorders	7201	TRHR	ORPHA:99832
HP:0001005	Dermatological manifestations of systemic disorders	6567	SLC16A2	ORPHA:59
HP:0001005	Dermatological manifestations of systemic disorders	2688	GH1	OMIM:262400
HP:0001005	Dermatological manifestations of systemic disorders	146059	CDAN1	OMIM:224120
HP:0001005	Dermatological manifestations of systemic disorders	3785	KCNQ2	ORPHA:1949
HP:0001005	Dermatological manifestations of systemic disorders	3786	KCNQ3	ORPHA:1949
HP:0001005	Dermatological manifestations of systemic disorders	171019	ADAMTS19	OMIM:620067
HP:0001005	Dermatological manifestations of systemic disorders	29968	PSAT1	ORPHA:284417
HP:0001005	Dermatological manifestations of systemic disorders	29968	PSAT1	OMIM:610992
HP:0001005	Dermatological manifestations of systemic disorders	6335	SCN9A	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	6326	SCN2A	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	2554	GABRA1	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	6323	SCN1A	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	6324	SCN1B	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	57526	PCDH19	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	2566	GABRG2	ORPHA:33069
HP:0001007	Hirsutism	10128	LRPPRC	OMIM:220111
HP:0001007	Hirsutism	6448	SGSH	OMIM:252900
HP:0001007	Hirsutism	23394	ADNP	ORPHA:404448
HP:0001007	Hirsutism	9210	BMP15	OMIM:300510
HP:0001007	Hirsutism	124997	WDR81	OMIM:610185
HP:0001007	Hirsutism	6885	MAP3K7	OMIM:617137
HP:0001007	Hirsutism	6650	CAPN15	OMIM:619318
HP:0001007	Hirsutism	857	CAV1	OMIM:612526
HP:0001007	Hirsutism	2908	NR3C1	ORPHA:786
HP:0001007	Hirsutism	2908	NR3C1	ORPHA:96253
HP:0001007	Hirsutism	2908	NR3C1	OMIM:615962
HP:0001007	Hirsutism	411	ARSB	OMIM:253200
HP:0001007	Hirsutism	5447	POR	ORPHA:95699
HP:0001007	Hirsutism	55593	OTUD5	OMIM:301056
HP:0001007	Hirsutism	10847	SRCAP	OMIM:136140
HP:0001007	Hirsutism	54453	RIN2	ORPHA:217335
HP:0001007	Hirsutism	80816	ASXL3	OMIM:615485
HP:0001007	Hirsutism	51506	UFC1	OMIM:618076
HP:0001007	Hirsutism	65082	VPS33A	OMIM:617303
HP:0001007	Hirsutism	526	ATP6V1B2	OMIM:616455
HP:0001007	Hirsutism	4081	MAB21L1	OMIM:618479
HP:0001007	Hirsutism	3097	HIVEP2	OMIM:616977
HP:0001007	Hirsutism	2720	GLB1	ORPHA:79255
HP:0001007	Hirsutism	3284	HSD3B2	ORPHA:90791
HP:0001007	Hirsutism	4131	MAP1B	OMIM:618918
HP:0001007	Hirsutism	5573	PRKAR1A	ORPHA:1359
HP:0001007	Hirsutism	5573	PRKAR1A	ORPHA:189439
HP:0001007	Hirsutism	5573	PRKAR1A	OMIM:160980
HP:0001007	Hirsutism	50940	PDE11A	ORPHA:1359
HP:0001007	Hirsutism	50940	PDE11A	ORPHA:189439
HP:0001007	Hirsutism	1584	CYP11B1	ORPHA:90795
HP:0001007	Hirsutism	6904	TBCD	ORPHA:496641
HP:0001007	Hirsutism	84196	USP48	ORPHA:96253
HP:0001007	Hirsutism	7157	TP53	ORPHA:96253
HP:0001007	Hirsutism	9101	USP8	ORPHA:96253
HP:0001007	Hirsutism	9101	USP8	OMIM:219090
HP:0001007	Hirsutism	64072	CDH23	ORPHA:96253
HP:0001007	Hirsutism	673	BRAF	ORPHA:96253
HP:0001007	Hirsutism	546	ATRX	ORPHA:96253
HP:0001007	Hirsutism	2530	FUT8	OMIM:618005
HP:0001007	Hirsutism	8913	CACNA1G	OMIM:618087
HP:0001007	Hirsutism	1020	CDK5	OMIM:616342
HP:0001007	Hirsutism	3756	KCNH1	OMIM:135500
HP:0001007	Hirsutism	6597	SMARCA4	ORPHA:1465
HP:0001007	Hirsutism	6598	SMARCB1	ORPHA:1465
HP:0001007	Hirsutism	6598	SMARCB1	OMIM:614608
HP:0001007	Hirsutism	6659	SOX4	ORPHA:1465
HP:0001007	Hirsutism	8289	ARID1A	ORPHA:1465
HP:0001007	Hirsutism	8289	ARID1A	OMIM:614607
HP:0001007	Hirsutism	5977	DPF2	ORPHA:1465
HP:0001007	Hirsutism	6601	SMARCC2	ORPHA:1465
HP:0001007	Hirsutism	6602	SMARCD1	ORPHA:1465
HP:0001007	Hirsutism	57492	ARID1B	ORPHA:1465
HP:0001007	Hirsutism	196528	ARID2	ORPHA:1465
HP:0001007	Hirsutism	6605	SMARCE1	ORPHA:1465
HP:0001007	Hirsutism	6664	SOX11	ORPHA:1465
HP:0001007	Hirsutism	7965	AIMP2	OMIM:618006
HP:0001007	Hirsutism	79140	CCDC28B	OMIM:209900
HP:0001007	Hirsutism	1201	CLN3	ORPHA:228346
HP:0001007	Hirsutism	114034	TOE1	OMIM:614969
HP:0001007	Hirsutism	4323	MMP14	OMIM:277950
HP:0001007	Hirsutism	4323	MMP14	ORPHA:371428
HP:0001007	Hirsutism	10555	AGPAT2	OMIM:608594
HP:0001007	Hirsutism	4313	MMP2	ORPHA:371428
HP:0001007	Hirsutism	4313	MMP2	OMIM:259600
HP:0001007	Hirsutism	9509	ADAMTS2	OMIM:225410
HP:0001007	Hirsutism	7403	KDM6A	OMIM:300867
HP:0001007	Hirsutism	7403	KDM6A	OMIM:147920
HP:0001007	Hirsutism	26040	SETBP1	OMIM:616078
HP:0001007	Hirsutism	4214	MAP3K1	OMIM:613762
HP:0001007	Hirsutism	93627	TBCK	ORPHA:488632
HP:0001007	Hirsutism	2783	GNB2	OMIM:619503
HP:0001007	Hirsutism	4247	MGAT2	OMIM:212066
HP:0001007	Hirsutism	4247	MGAT2	ORPHA:79329
HP:0001007	Hirsutism	9563	H6PD	OMIM:604931
HP:0001007	Hirsutism	2074	ERCC6	OMIM:214150
HP:0001007	Hirsutism	7840	ALMS1	ORPHA:64
HP:0001007	Hirsutism	1267	CNP	OMIM:619071
HP:0001007	Hirsutism	10526	IPO8	OMIM:619472
HP:0001007	Hirsutism	84504	NKX6-2	ORPHA:527497
HP:0001007	Hirsutism	5566	PRKACA	OMIM:615830
HP:0001007	Hirsutism	5566	PRKACA	ORPHA:189439
HP:0001007	Hirsutism	2737	GLI3	OMIM:175700
HP:0001007	Hirsutism	8622	PDE8B	ORPHA:189439
HP:0001007	Hirsutism	9060	PAPSS2	OMIM:612847
HP:0001007	Hirsutism	10236	HNRNPR	OMIM:620073
HP:0001007	Hirsutism	7204	TRIO	OMIM:617061
HP:0001007	Hirsutism	6872	TAF1	OMIM:300966
HP:0001007	Hirsutism	57477	SHROOM4	ORPHA:85288
HP:0001007	Hirsutism	2263	FGFR2	OMIM:614592
HP:0001007	Hirsutism	2263	FGFR2	ORPHA:313855
HP:0001007	Hirsutism	91875	TTC5	OMIM:619244
HP:0001007	Hirsutism	79798	ARMC5	ORPHA:189427
HP:0001007	Hirsutism	2778	GNAS	ORPHA:189427
HP:0001007	Hirsutism	9373	PLAA	ORPHA:521426
HP:0001007	Hirsutism	9373	PLAA	OMIM:617527
HP:0001007	Hirsutism	7841	MOGS	ORPHA:79330
HP:0001007	Hirsutism	11128	POLR3A	ORPHA:3455
HP:0001007	Hirsutism	55691	FRMD4A	OMIM:616819
HP:0001007	Hirsutism	55691	FRMD4A	ORPHA:466688
HP:0001007	Hirsutism	6603	SMARCD2	OMIM:617475
HP:0001007	Hirsutism	1315	COPB1	OMIM:619255
HP:0001007	Hirsutism	2990	GUSB	OMIM:253220
HP:0001007	Hirsutism	64919	BCL11B	OMIM:617237
HP:0001007	Hirsutism	8481	OFD1	OMIM:300804
HP:0001007	Hirsutism	54187	NANS	OMIM:610442
HP:0001007	Hirsutism	51322	WAC	OMIM:616708
HP:0001007	Hirsutism	51322	WAC	ORPHA:466950
HP:0001007	Hirsutism	138050	HGSNAT	OMIM:252930
HP:0001007	Hirsutism	2492	FSHR	ORPHA:64739
HP:0001007	Hirsutism	147372	CCBE1	OMIM:235510
HP:0001007	Hirsutism	4848	CNOT2	OMIM:618608
HP:0001007	Hirsutism	64131	XYLT1	ORPHA:370930
HP:0001007	Hirsutism	171023	ASXL1	OMIM:605039
HP:0001007	Hirsutism	55553	SOX6	OMIM:618971
HP:0001007	Hirsutism	284361	EMC10	OMIM:619264
HP:0001007	Hirsutism	29072	SETD2	OMIM:616831
HP:0001007	Hirsutism	6878	TAF6	OMIM:617126
HP:0001007	Hirsutism	284119	CAVIN1	OMIM:613327
HP:0001007	Hirsutism	4669	NAGLU	OMIM:252920
HP:0001007	Hirsutism	8085	KMT2D	OMIM:147920
HP:0001007	Hirsutism	23476	BRD4	ORPHA:199
HP:0001007	Hirsutism	9126	SMC3	ORPHA:199
HP:0001007	Hirsutism	8243	SMC1A	ORPHA:199
HP:0001007	Hirsutism	25836	NIPBL	ORPHA:199
HP:0001007	Hirsutism	55869	HDAC8	ORPHA:199
HP:0001007	Hirsutism	5885	RAD21	ORPHA:199
HP:0001007	Hirsutism	92482	BBIP1	ORPHA:110
HP:0001007	Hirsutism	80184	CEP290	ORPHA:110
HP:0001007	Hirsutism	11020	IFT27	ORPHA:110
HP:0001007	Hirsutism	582	BBS1	ORPHA:110
HP:0001007	Hirsutism	49855	SCAPER	ORPHA:110
HP:0001007	Hirsutism	4867	NPHP1	ORPHA:110
HP:0001007	Hirsutism	51057	WDPCP	ORPHA:110
HP:0001007	Hirsutism	27241	BBS9	ORPHA:110
HP:0001007	Hirsutism	84984	CEP19	ORPHA:110
HP:0001007	Hirsutism	22954	TRIM32	ORPHA:110
HP:0001007	Hirsutism	54903	MKS1	ORPHA:110
HP:0001007	Hirsutism	79738	BBS10	ORPHA:110
HP:0001007	Hirsutism	123016	TTC8	ORPHA:110
HP:0001007	Hirsutism	26160	IFT172	ORPHA:110
HP:0001007	Hirsutism	583	BBS2	ORPHA:110
HP:0001007	Hirsutism	585	BBS4	ORPHA:110
HP:0001007	Hirsutism	8195	MKKS	ORPHA:110
HP:0001007	Hirsutism	54585	LZTFL1	ORPHA:110
HP:0001007	Hirsutism	55212	BBS7	ORPHA:110
HP:0001007	Hirsutism	166379	BBS12	ORPHA:110
HP:0001007	Hirsutism	10806	SDCCAG8	ORPHA:110
HP:0001007	Hirsutism	157657	CFAP418	ORPHA:110
HP:0001007	Hirsutism	84100	ARL6	ORPHA:110
HP:0001007	Hirsutism	129880	BBS5	ORPHA:110
HP:0001007	Hirsutism	80173	IFT74	ORPHA:110
HP:0001007	Hirsutism	29957	SLC25A24	ORPHA:2095
HP:0001007	Hirsutism	29957	SLC25A24	ORPHA:2963
HP:0001007	Hirsutism	3643	INSR	ORPHA:2297
HP:0001007	Hirsutism	5593	PRKG2	OMIM:619636
HP:0001007	Hirsutism	4157	MC1R	ORPHA:626
HP:0001007	Hirsutism	4893	NRAS	ORPHA:626
HP:0001007	Hirsutism	55777	MBD5	ORPHA:228402
HP:0001007	Hirsutism	5590	PRKCZ	ORPHA:1606
HP:0001007	Hirsutism	2563	GABRD	ORPHA:1606
HP:0001007	Hirsutism	23013	SPEN	ORPHA:1606
HP:0001007	Hirsutism	8510	MMP23B	ORPHA:1606
HP:0001007	Hirsutism	7798	LUZP1	ORPHA:1606
HP:0001007	Hirsutism	6497	SKI	ORPHA:1606
HP:0001007	Hirsutism	10630	PDPN	ORPHA:1606
HP:0001007	Hirsutism	3339	HSPG2	ORPHA:1606
HP:0001007	Hirsutism	3339	HSPG2	OMIM:255800
HP:0001007	Hirsutism	3339	HSPG2	ORPHA:800
HP:0001007	Hirsutism	10277	UBE4B	ORPHA:1606
HP:0001007	Hirsutism	8514	KCNAB2	ORPHA:1606
HP:0001007	Hirsutism	473	RERE	ORPHA:1606
HP:0001007	Hirsutism	63976	PRDM16	ORPHA:1606
HP:0001007	Hirsutism	54897	CASZ1	ORPHA:1606
HP:0001007	Hirsutism	3425	IDUA	ORPHA:93473
HP:0001007	Hirsutism	3425	IDUA	ORPHA:93476
HP:0001007	Hirsutism	5728	PTEN	ORPHA:744
HP:0001007	Hirsutism	207	AKT1	ORPHA:744
HP:0001007	Hirsutism	26580	BSCL2	ORPHA:363400
HP:0001007	Hirsutism	5594	MAPK1	OMIM:619087
HP:0001007	Hirsutism	63916	ELMO2	ORPHA:3019
HP:0001007	Hirsutism	6608	SMO	ORPHA:1553
HP:0001007	Hirsutism	117581	TWIST2	ORPHA:1231
HP:0001007	Hirsutism	7291	TWIST1	OMIM:617746
HP:0001007	Hirsutism	3764	KCNJ8	ORPHA:1517
HP:0001007	Hirsutism	10060	ABCC9	ORPHA:1517
HP:0001007	Hirsutism	4297	KMT2A	OMIM:605130
HP:0001007	Hirsutism	4297	KMT2A	ORPHA:319182
HP:0001007	Hirsutism	4000	LMNA	ORPHA:280365
HP:0001007	Hirsutism	4000	LMNA	ORPHA:2348
HP:0001007	Hirsutism	10020	GNE	OMIM:269921
HP:0001007	Hirsutism	3664	IRF6	ORPHA:1300
HP:0001007	Hirsutism	5468	PPARG	ORPHA:79083
HP:0001007	Hirsutism	84823	LMNB2	ORPHA:79087
HP:0001007	Hirsutism	83550	GPR101	ORPHA:963
HP:0001007	Hirsutism	9049	AIP	ORPHA:963
HP:0001007	Hirsutism	22930	RAB3GAP1	ORPHA:2510
HP:0001007	Hirsutism	25782	RAB3GAP2	ORPHA:2510
HP:0001007	Hirsutism	22931	RAB18	ORPHA:2510
HP:0001007	Hirsutism	128637	TBC1D20	ORPHA:2510
HP:0001007	Hirsutism	8604	SLC25A12	OMIM:612949
HP:0001007	Hirsutism	4784	NFIX	ORPHA:561
HP:0001007	Hirsutism	23461	ABCA5	ORPHA:2026
HP:0001007	Hirsutism	203068	TUBB	ORPHA:2505
HP:0001007	Hirsutism	10982	MAPRE2	ORPHA:2505
HP:0001007	Hirsutism	649	BMP1	OMIM:614856
HP:0001007	Hirsutism	7319	UBE2A	ORPHA:163956
HP:0001007	Hirsutism	170302	ARX	ORPHA:2508
HP:0001007	Hirsutism	2697	GJA1	ORPHA:317
HP:0001007	Hirsutism	2707	GJB3	ORPHA:317
HP:0001007	Hirsutism	2531	KDSR	ORPHA:317
HP:0001007	Hirsutism	127534	GJB4	ORPHA:317
HP:0001007	Hirsutism	4853	NOTCH2	ORPHA:955
HP:0001007	Hirsutism	8803	SUCLA2	ORPHA:1933
HP:0001007	Hirsutism	1588	CYP19A1	ORPHA:91
HP:0001007	Hirsutism	1075	CTSC	ORPHA:678
HP:0001007	Hirsutism	5184	PEPD	OMIM:170100
HP:0001007	Hirsutism	27125	AFF4	ORPHA:444077
HP:0001007	Hirsutism	54361	WNT4	ORPHA:247768
HP:0001007	Hirsutism	129285	PPP1R21	OMIM:619383
HP:0001007	Hirsutism	1371	CPOX	ORPHA:79273
HP:0001007	Hirsutism	6913	TBX15	OMIM:260660
HP:0001007	Hirsutism	2799	GNS	OMIM:252940
HP:0001007	Hirsutism	8626	TP63	OMIM:604292
HP:0001007	Hirsutism	55617	TASP1	OMIM:618950
HP:0001007	Hirsutism	54496	PRMT7	OMIM:617157
HP:0001007	Hirsutism	1387	CREBBP	OMIM:180849
HP:0001007	Hirsutism	2033	EP300	OMIM:180849
HP:0001007	Hirsutism	2316	FLNA	OMIM:309350
HP:0001007	Hirsutism	150468	CKAP2L	OMIM:272440
HP:0001007	Hirsutism	388015	RTL1	ORPHA:96334
HP:0001007	Hirsutism	8788	DLK1	ORPHA:96334
HP:0001007	Hirsutism	55384	MEG3	ORPHA:96334
HP:0001007	Hirsutism	6134	RPL10	OMIM:300998
HP:0001007	Hirsutism	23325	WASHC4	OMIM:615817
HP:0001003	Multiple lentigines	25778	DSTYK	ORPHA:101003
HP:0001003	Multiple lentigines	25778	DSTYK	OMIM:270750
HP:0001003	Multiple lentigines	5573	PRKAR1A	OMIM:160980
HP:0001003	Multiple lentigines	5573	PRKAR1A	ORPHA:1359
HP:0001003	Multiple lentigines	5605	MAP2K2	OMIM:615280
HP:0001003	Multiple lentigines	5605	MAP2K2	ORPHA:1340
HP:0001003	Multiple lentigines	8036	SHOC2	OMIM:607721
HP:0001003	Multiple lentigines	5781	PTPN11	OMIM:151100
HP:0001003	Multiple lentigines	5781	PTPN11	ORPHA:500
HP:0001003	Multiple lentigines	5594	MAPK1	OMIM:619087
HP:0001003	Multiple lentigines	50485	SMARCAL1	ORPHA:1830
HP:0001003	Multiple lentigines	4893	NRAS	OMIM:613224
HP:0001003	Multiple lentigines	6794	STK11	ORPHA:2869
HP:0001003	Multiple lentigines	5894	RAF1	OMIM:611554
HP:0001003	Multiple lentigines	5894	RAF1	OMIM:611553
HP:0001003	Multiple lentigines	5894	RAF1	ORPHA:500
HP:0001003	Multiple lentigines	673	BRAF	OMIM:115150
HP:0001003	Multiple lentigines	673	BRAF	ORPHA:1340
HP:0001003	Multiple lentigines	673	BRAF	OMIM:613707
HP:0001003	Multiple lentigines	673	BRAF	ORPHA:500
HP:0001003	Multiple lentigines	4254	KITLG	OMIM:145250
HP:0001003	Multiple lentigines	5604	MAP2K1	ORPHA:1340
HP:0001003	Multiple lentigines	3845	KRAS	ORPHA:1340
HP:0001003	Multiple lentigines	50940	PDE11A	ORPHA:1359
HP:0011226	Aplasia/Hypoplasia of the eyelid	8092	ALX1	ORPHA:306542
HP:0011226	Aplasia/Hypoplasia of the eyelid	23394	ADNP	OMIM:615873
HP:0011226	Aplasia/Hypoplasia of the eyelid	284252	KCTD1	ORPHA:2036
HP:0011226	Aplasia/Hypoplasia of the eyelid	6154	RPL26	OMIM:614900
HP:0011226	Aplasia/Hypoplasia of the eyelid	157570	ESCO2	OMIM:268300
HP:0011226	Aplasia/Hypoplasia of the eyelid	1723	DHODH	ORPHA:246
HP:0011226	Aplasia/Hypoplasia of the eyelid	1723	DHODH	OMIM:263750
HP:0011226	Aplasia/Hypoplasia of the eyelid	84172	POLR1B	ORPHA:861
HP:0011226	Aplasia/Hypoplasia of the eyelid	9533	POLR1C	ORPHA:861
HP:0011226	Aplasia/Hypoplasia of the eyelid	51082	POLR1D	ORPHA:861
HP:0011226	Aplasia/Hypoplasia of the eyelid	6949	TCOF1	ORPHA:861
HP:0011226	Aplasia/Hypoplasia of the eyelid	3845	KRAS	OMIM:600268
HP:0011226	Aplasia/Hypoplasia of the eyelid	3845	KRAS	ORPHA:3339
HP:0011226	Aplasia/Hypoplasia of the eyelid	158326	FREM1	OMIM:248450
HP:0011226	Aplasia/Hypoplasia of the eyelid	92002	CCNQ	ORPHA:140952
HP:0011226	Aplasia/Hypoplasia of the eyelid	2260	FGFR1	OMIM:613001
HP:0011226	Aplasia/Hypoplasia of the eyelid	1009	CDH11	ORPHA:1299
HP:0011226	Aplasia/Hypoplasia of the eyelid	10535	RNASEH2A	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	84153	RNASEH2C	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	25939	SAMHD1	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	79621	RNASEH2B	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	103	ADAR	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	11277	TREX1	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	100147744	RNU7-1	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	134353	LSM11	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	64135	IFIH1	ORPHA:51
HP:0011226	Aplasia/Hypoplasia of the eyelid	2313	FLI1	ORPHA:2308
HP:0011226	Aplasia/Hypoplasia of the eyelid	55636	CHD7	ORPHA:138
HP:0011226	Aplasia/Hypoplasia of the eyelid	9723	SEMA3E	ORPHA:138
HP:0011226	Aplasia/Hypoplasia of the eyelid	7291	TWIST1	OMIM:617746
HP:0011226	Aplasia/Hypoplasia of the eyelid	10992	SF3B2	OMIM:164210
HP:0011226	Aplasia/Hypoplasia of the eyelid	29957	SLC25A24	ORPHA:2095
HP:0011226	Aplasia/Hypoplasia of the eyelid	80144	FRAS1	OMIM:219000
HP:0011226	Aplasia/Hypoplasia of the eyelid	10262	SF3B4	ORPHA:245
HP:0011226	Aplasia/Hypoplasia of the eyelid	10262	SF3B4	OMIM:154400
HP:0011226	Aplasia/Hypoplasia of the eyelid	1909	EDNRA	OMIM:616367
HP:0011226	Aplasia/Hypoplasia of the eyelid	10907	TXNL4A	OMIM:608572
HP:0011226	Aplasia/Hypoplasia of the eyelid	23426	GRIP1	OMIM:617667
HP:0011226	Aplasia/Hypoplasia of the eyelid	23426	GRIP1	ORPHA:2052
HP:0011226	Aplasia/Hypoplasia of the eyelid	341640	FREM2	OMIM:617666
HP:0011226	Aplasia/Hypoplasia of the eyelid	341640	FREM2	OMIM:123570
HP:0011226	Aplasia/Hypoplasia of the eyelid	341640	FREM2	ORPHA:2052
HP:0011226	Aplasia/Hypoplasia of the eyelid	10586	MAB21L2	OMIM:615877
HP:0011226	Aplasia/Hypoplasia of the eyelid	1984	EIF5A	OMIM:619376
HP:0011226	Aplasia/Hypoplasia of the eyelid	29968	PSAT1	OMIM:616038
HP:0011226	Aplasia/Hypoplasia of the eyelid	117581	TWIST2	ORPHA:1231
HP:0011226	Aplasia/Hypoplasia of the eyelid	117581	TWIST2	OMIM:200110
HP:0011226	Aplasia/Hypoplasia of the eyelid	117581	TWIST2	ORPHA:920
HP:0011226	Aplasia/Hypoplasia of the eyelid	54101	RIPK4	OMIM:263650
HP:0011226	Aplasia/Hypoplasia of the eyelid	25885	POLR1A	OMIM:616462
HP:0011226	Aplasia/Hypoplasia of the eyelid	26227	PHGDH	OMIM:256520
HP:0011226	Aplasia/Hypoplasia of the eyelid	8882	ZPR1	OMIM:619321
HP:0011225	Epiblepharon	7528	YY1	OMIM:617557
HP:0011225	Epiblepharon	117581	TWIST2	OMIM:209885
HP:0011225	Epiblepharon	10524	KAT5	OMIM:619103
HP:0011225	Epiblepharon	10588	MTHFS	OMIM:618367
HP:0011225	Epiblepharon	54892	NCAPG2	OMIM:618460
HP:0011223	Metopic depression	2263	FGFR2	ORPHA:313855
HP:0011229	Broad eyebrow	4094	MAF	OMIM:601088
HP:0011229	Broad eyebrow	473	RERE	ORPHA:494344
HP:0011229	Broad eyebrow	473	RERE	OMIM:616975
HP:0011229	Broad eyebrow	5422	POLA1	OMIM:301220
HP:0011229	Broad eyebrow	8925	HERC1	ORPHA:457359
HP:0011229	Broad eyebrow	55621	TRMT1	OMIM:618302
HP:0011229	Broad eyebrow	6711	SPTBN1	OMIM:619475
HP:0011229	Broad eyebrow	1984	EIF5A	OMIM:619376
HP:0011229	Broad eyebrow	11253	MAN1B1	OMIM:614202
HP:0011229	Broad eyebrow	1387	CREBBP	OMIM:180849
HP:0011229	Broad eyebrow	2033	EP300	OMIM:180849
HP:0011229	Broad eyebrow	2186	BPTF	OMIM:617755
HP:0011229	Broad eyebrow	29920	PYCR2	ORPHA:481152
HP:0011229	Broad eyebrow	11128	POLR3A	OMIM:264090
HP:0011229	Broad eyebrow	9839	ZEB2	OMIM:235730
HP:0011229	Broad eyebrow	9839	ZEB2	ORPHA:261537
HP:0011229	Broad eyebrow	9839	ZEB2	ORPHA:261552
HP:0011229	Broad eyebrow	25942	SIN3A	ORPHA:94065
HP:0011229	Broad eyebrow	1105	CHD1	OMIM:617682
HP:0011229	Broad eyebrow	6651	SON	OMIM:617140
HP:0011229	Broad eyebrow	5594	MAPK1	OMIM:619087
HP:0011229	Broad eyebrow	91875	TTC5	OMIM:619244
HP:0011229	Broad eyebrow	25871	NEPRO	OMIM:618853
HP:0011229	Broad eyebrow	118924	FRA10AC1	OMIM:620113
HP:0011229	Broad eyebrow	55343	SLC35C1	ORPHA:99843
HP:0011229	Broad eyebrow	1642	DDB1	OMIM:619426
HP:0011228	Horizontal eyebrow	50801	KCNK4	OMIM:618381
HP:0011228	Horizontal eyebrow	5898	RALA	OMIM:619311
HP:0011228	Horizontal eyebrow	253738	EBF3	OMIM:617330
HP:0011228	Horizontal eyebrow	8367	H4C5	OMIM:619950
HP:0011228	Horizontal eyebrow	93986	FOXP2	ORPHA:209908
HP:0011228	Horizontal eyebrow	1788	DNMT3A	OMIM:615879
HP:0011228	Horizontal eyebrow	5590	PRKCZ	ORPHA:1606
HP:0011228	Horizontal eyebrow	2563	GABRD	ORPHA:1606
HP:0011228	Horizontal eyebrow	23013	SPEN	ORPHA:1606
HP:0011228	Horizontal eyebrow	8510	MMP23B	ORPHA:1606
HP:0011228	Horizontal eyebrow	7798	LUZP1	ORPHA:1606
HP:0011228	Horizontal eyebrow	6497	SKI	ORPHA:1606
HP:0011228	Horizontal eyebrow	10630	PDPN	ORPHA:1606
HP:0011228	Horizontal eyebrow	3339	HSPG2	ORPHA:1606
HP:0011228	Horizontal eyebrow	10277	UBE4B	ORPHA:1606
HP:0011228	Horizontal eyebrow	8514	KCNAB2	ORPHA:1606
HP:0011228	Horizontal eyebrow	473	RERE	ORPHA:1606
HP:0011228	Horizontal eyebrow	63976	PRDM16	ORPHA:1606
HP:0011228	Horizontal eyebrow	54897	CASZ1	ORPHA:1606
HP:0011228	Horizontal eyebrow	23389	MED13L	ORPHA:369891
HP:0011228	Horizontal eyebrow	4848	CNOT2	OMIM:618608
HP:0011228	Horizontal eyebrow	80781	COL18A1	OMIM:267750
HP:0011228	Horizontal eyebrow	55027	HEATR3	OMIM:620072
HP:0011228	Horizontal eyebrow	6857	SYT1	ORPHA:522077
HP:0011228	Horizontal eyebrow	253959	RALGAPA1	OMIM:618797
HP:0011228	Horizontal eyebrow	26173	INTS1	OMIM:618571
HP:0011228	Horizontal eyebrow	83696	TRAPPC9	ORPHA:352530
HP:0011228	Horizontal eyebrow	2783	GNB2	OMIM:619503
HP:0011228	Horizontal eyebrow	1642	DDB1	OMIM:619426
HP:0011228	Horizontal eyebrow	10522	DEAF1	OMIM:615828
HP:0011228	Horizontal eyebrow	23097	CDK19	OMIM:618916
HP:0011228	Horizontal eyebrow	6868	ADAM17	ORPHA:294023
HP:0011228	Horizontal eyebrow	1956	EGFR	ORPHA:294023
HP:0011227	Elevated circulating C-reactive protein concentration	9051	PSTPIP1	OMIM:604416
HP:0011227	Elevated circulating C-reactive protein concentration	3689	ITGB2	OMIM:116920
HP:0011227	Elevated circulating C-reactive protein concentration	90268	OTULIN	OMIM:617099
HP:0011227	Elevated circulating C-reactive protein concentration	144811	LACC1	ORPHA:85414
HP:0011227	Elevated circulating C-reactive protein concentration	4282	MIF	ORPHA:85414
HP:0011227	Elevated circulating C-reactive protein concentration	3123	HLA-DRB1	ORPHA:85414
HP:0011227	Elevated circulating C-reactive protein concentration	3569	IL6	ORPHA:85414
HP:0011227	Elevated circulating C-reactive protein concentration	29775	CARD10	OMIM:619632
HP:0011227	Elevated circulating C-reactive protein concentration	3702	ITK	OMIM:613011
HP:0011227	Elevated circulating C-reactive protein concentration	114548	NLRP3	OMIM:191900
HP:0011227	Elevated circulating C-reactive protein concentration	114548	NLRP3	OMIM:607115
HP:0011227	Elevated circulating C-reactive protein concentration	114548	NLRP3	ORPHA:1451
HP:0011227	Elevated circulating C-reactive protein concentration	114548	NLRP3	OMIM:120100
HP:0011227	Elevated circulating C-reactive protein concentration	27178	IL37	OMIM:619398
HP:0011227	Elevated circulating C-reactive protein concentration	3572	IL6ST	OMIM:619750
HP:0011227	Elevated circulating C-reactive protein concentration	5580	PRKCD	OMIM:615559
HP:0011227	Elevated circulating C-reactive protein concentration	1493	CTLA4	ORPHA:900
HP:0011227	Elevated circulating C-reactive protein concentration	26191	PTPN22	ORPHA:900
HP:0011227	Elevated circulating C-reactive protein concentration	26191	PTPN22	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	3115	HLA-DPB1	ORPHA:900
HP:0011227	Elevated circulating C-reactive protein concentration	5657	PRTN3	ORPHA:900
HP:0011227	Elevated circulating C-reactive protein concentration	3113	HLA-DPA1	ORPHA:900
HP:0011227	Elevated circulating C-reactive protein concentration	58484	NLRC4	OMIM:616050
HP:0011227	Elevated circulating C-reactive protein concentration	7317	UBA1	OMIM:301054
HP:0011227	Elevated circulating C-reactive protein concentration	4210	MEFV	OMIM:249100
HP:0011227	Elevated circulating C-reactive protein concentration	4210	MEFV	ORPHA:3243
HP:0011227	Elevated circulating C-reactive protein concentration	4210	MEFV	OMIM:608068
HP:0011227	Elevated circulating C-reactive protein concentration	57169	ZNFX1	OMIM:619644
HP:0011227	Elevated circulating C-reactive protein concentration	3162	HMOX1	OMIM:614034
HP:0011227	Elevated circulating C-reactive protein concentration	22861	NLRP1	OMIM:617388
HP:0011227	Elevated circulating C-reactive protein concentration	1314	COPA	OMIM:616414
HP:0011227	Elevated circulating C-reactive protein concentration	51816	ADA2	OMIM:615688
HP:0011227	Elevated circulating C-reactive protein concentration	3557	IL1RN	OMIM:612852
HP:0011227	Elevated circulating C-reactive protein concentration	91662	NLRP12	OMIM:611762
HP:0011227	Elevated circulating C-reactive protein concentration	7132	TNFRSF1A	ORPHA:32960
HP:0011227	Elevated circulating C-reactive protein concentration	331	XIAP	OMIM:308240
HP:0011227	Elevated circulating C-reactive protein concentration	4068	SH2D1A	OMIM:308240
HP:0011227	Elevated circulating C-reactive protein concentration	51371	POMP	OMIM:618048
HP:0011227	Elevated circulating C-reactive protein concentration	50619	DEF6	OMIM:619573
HP:0011227	Elevated circulating C-reactive protein concentration	340061	STING1	OMIM:615934
HP:0011227	Elevated circulating C-reactive protein concentration	26525	IL36RN	OMIM:614204
HP:0011227	Elevated circulating C-reactive protein concentration	10095	ARPC1B	OMIM:617718
HP:0011227	Elevated circulating C-reactive protein concentration	6583	SLC22A4	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	4261	CIITA	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	51744	CD244	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	4795	NFKBIL1	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	3586	IL10	OMIM:180300
HP:0011227	Elevated circulating C-reactive protein concentration	6850	SYK	OMIM:619381
HP:0011227	Elevated circulating C-reactive protein concentration	2000	ELF4	OMIM:301074
HP:0011227	Elevated circulating C-reactive protein concentration	205327	C2orf69	OMIM:619423
HP:0011227	Elevated circulating C-reactive protein concentration	4689	NCF4	OMIM:613960
HP:0011227	Elevated circulating C-reactive protein concentration	4598	MVK	OMIM:610377
HP:0011227	Elevated circulating C-reactive protein concentration	5696	PSMB8	OMIM:256040
HP:0011227	Elevated circulating C-reactive protein concentration	11330	CTRC	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	5644	PRSS1	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	5645	PRSS2	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	6690	SPINK1	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	846	CASR	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	1080	CFTR	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	1357	CPA1	ORPHA:676
HP:0011227	Elevated circulating C-reactive protein concentration	7187	TRAF3	ORPHA:1930
HP:0011227	Elevated circulating C-reactive protein concentration	81622	UNC93B1	ORPHA:1930
HP:0011227	Elevated circulating C-reactive protein concentration	148022	TICAM1	ORPHA:1930
HP:0011227	Elevated circulating C-reactive protein concentration	7098	TLR3	ORPHA:1930
HP:0011227	Elevated circulating C-reactive protein concentration	29110	TBK1	ORPHA:1930
HP:0011222	Depressed glabella	2200	FBN1	OMIM:608328
HP:0011221	Vertical forehead creases	27125	AFF4	ORPHA:444077
HP:0011221	Vertical forehead creases	94005	PIGS	OMIM:618143
HP:0011220	Prominent forehead	10128	LRPPRC	OMIM:220111
HP:0011220	Prominent forehead	2077	ERF	OMIM:600775
HP:0011220	Prominent forehead	8036	SHOC2	OMIM:607721
HP:0011220	Prominent forehead	28981	IFT81	OMIM:617895
HP:0011220	Prominent forehead	5728	PTEN	OMIM:605309
HP:0011220	Prominent forehead	23135	KDM6B	OMIM:618505
HP:0011220	Prominent forehead	7291	TWIST1	OMIM:123100
HP:0011220	Prominent forehead	673	BRAF	OMIM:115150
HP:0011220	Prominent forehead	673	BRAF	OMIM:613707
HP:0011220	Prominent forehead	673	BRAF	OMIM:613706
HP:0011220	Prominent forehead	5894	RAF1	OMIM:611553
HP:0011220	Prominent forehead	145173	B3GLCT	ORPHA:709
HP:0011220	Prominent forehead	145173	B3GLCT	OMIM:261540
HP:0011220	Prominent forehead	64324	NSD1	ORPHA:821
HP:0011220	Prominent forehead	64324	NSD1	OMIM:117550
HP:0011220	Prominent forehead	29072	SETD2	ORPHA:821
HP:0011220	Prominent forehead	29072	SETD2	OMIM:616831
HP:0011220	Prominent forehead	10297	APC2	ORPHA:821
HP:0011220	Prominent forehead	4125	MAN2B1	ORPHA:309282
HP:0011220	Prominent forehead	3481	IGF2	ORPHA:231140
HP:0011220	Prominent forehead	3481	IGF2	ORPHA:231144
HP:0011220	Prominent forehead	3481	IGF2	OMIM:616489
HP:0011220	Prominent forehead	3481	IGF2	ORPHA:397590
HP:0011220	Prominent forehead	283120	H19	ORPHA:231140
HP:0011220	Prominent forehead	283120	H19	ORPHA:231144
HP:0011220	Prominent forehead	4983	OPHN1	OMIM:300486
HP:0011220	Prominent forehead	4281	MID1	OMIM:300000
HP:0011220	Prominent forehead	4281	MID1	ORPHA:2745
HP:0011220	Prominent forehead	374654	KIF7	OMIM:200990
HP:0011220	Prominent forehead	3020	H3-3A	OMIM:619720
HP:0011220	Prominent forehead	3021	H3-3B	OMIM:619721
HP:0011220	Prominent forehead	80816	ASXL3	OMIM:615485
HP:0011220	Prominent forehead	80816	ASXL3	ORPHA:352577
HP:0011220	Prominent forehead	7552	ZNF711	OMIM:300803
HP:0011220	Prominent forehead	10026	PIGK	OMIM:618879
HP:0011220	Prominent forehead	5830	PEX5	OMIM:202370
HP:0011220	Prominent forehead	8239	USP9X	OMIM:300919
HP:0011220	Prominent forehead	8239	USP9X	ORPHA:480880
HP:0011220	Prominent forehead	8239	USP9X	OMIM:300968
HP:0011220	Prominent forehead	79639	TMEM53	OMIM:619727
HP:0011220	Prominent forehead	5184	PEPD	OMIM:170100
HP:0011220	Prominent forehead	65082	VPS33A	OMIM:617303
HP:0011220	Prominent forehead	65082	VPS33A	ORPHA:505248
HP:0011220	Prominent forehead	55904	KMT2E	OMIM:618512
HP:0011220	Prominent forehead	2132	EXT2	ORPHA:466926
HP:0011220	Prominent forehead	23384	SPECC1L	ORPHA:1519
HP:0011220	Prominent forehead	23384	SPECC1L	OMIM:145420
HP:0011220	Prominent forehead	9915	ARNT2	OMIM:615926
HP:0011220	Prominent forehead	55780	ERMARD	ORPHA:75857
HP:0011220	Prominent forehead	150468	CKAP2L	ORPHA:3255
HP:0011220	Prominent forehead	10472	ZBTB18	ORPHA:36367
HP:0011220	Prominent forehead	10472	ZBTB18	OMIM:612337
HP:0011220	Prominent forehead	6197	RPS6KA3	OMIM:303600
HP:0011220	Prominent forehead	6197	RPS6KA3	OMIM:300844
HP:0011220	Prominent forehead	1896	EDA	OMIM:305100
HP:0011220	Prominent forehead	6023	RMRP	ORPHA:175
HP:0011220	Prominent forehead	317662	FAM149B1	OMIM:618763
HP:0011220	Prominent forehead	2261	FGFR3	OMIM:146000
HP:0011220	Prominent forehead	2261	FGFR3	OMIM:187600
HP:0011220	Prominent forehead	816	CAMK2B	OMIM:617799
HP:0011220	Prominent forehead	6499	SKIC2	OMIM:614602
HP:0011220	Prominent forehead	6499	SKIC2	ORPHA:84064
HP:0011220	Prominent forehead	1801	DPH1	OMIM:616901
HP:0011220	Prominent forehead	1801	DPH1	ORPHA:459061
HP:0011220	Prominent forehead	55681	SCYL2	OMIM:618766
HP:0011220	Prominent forehead	55699	IARS2	ORPHA:436174
HP:0011220	Prominent forehead	55699	IARS2	OMIM:616007
HP:0011220	Prominent forehead	894	CCND2	OMIM:615938
HP:0011220	Prominent forehead	23325	WASHC4	OMIM:615817
HP:0011220	Prominent forehead	9401	RECQL4	OMIM:218600
HP:0011220	Prominent forehead	5159	PDGFRB	OMIM:616592
HP:0011220	Prominent forehead	4330	MN1	OMIM:618774
HP:0011220	Prominent forehead	57231	SNX14	OMIM:616354
HP:0011220	Prominent forehead	23036	ZNF292	OMIM:619188
HP:0011220	Prominent forehead	55148	UBR7	OMIM:619189
HP:0011220	Prominent forehead	8550	MAPKAPK5	OMIM:619869
HP:0011220	Prominent forehead	5813	PURA	ORPHA:438216
HP:0011220	Prominent forehead	5813	PURA	OMIM:616158
HP:0011220	Prominent forehead	1954	MEGF8	OMIM:614976
HP:0011220	Prominent forehead	1028	CDKN1C	OMIM:614732
HP:0011220	Prominent forehead	1028	CDKN1C	ORPHA:397590
HP:0011220	Prominent forehead	25942	SIN3A	OMIM:613406
HP:0011220	Prominent forehead	26040	SETBP1	OMIM:269150
HP:0011220	Prominent forehead	54496	PRMT7	ORPHA:464288
HP:0011220	Prominent forehead	54496	PRMT7	OMIM:617157
HP:0011220	Prominent forehead	2200	FBN1	OMIM:616914
HP:0011220	Prominent forehead	5373	PMM2	OMIM:212065
HP:0011220	Prominent forehead	5373	PMM2	ORPHA:79318
HP:0011220	Prominent forehead	63901	FAM111A	OMIM:602361
HP:0011220	Prominent forehead	63901	FAM111A	OMIM:127000
HP:0011220	Prominent forehead	63901	FAM111A	ORPHA:93325
HP:0011220	Prominent forehead	1802	DPH2	OMIM:620062
HP:0011220	Prominent forehead	10804	GJB6	ORPHA:477
HP:0011220	Prominent forehead	2706	GJB2	ORPHA:477
HP:0011220	Prominent forehead	6792	CDKL5	OMIM:300672
HP:0011220	Prominent forehead	6792	CDKL5	ORPHA:505652
HP:0011220	Prominent forehead	253738	EBF3	OMIM:617330
HP:0011220	Prominent forehead	57217	TTC7A	OMIM:243150
HP:0011220	Prominent forehead	65109	UPF3B	OMIM:300676
HP:0011220	Prominent forehead	56006	SMG9	OMIM:619995
HP:0011220	Prominent forehead	56006	SMG9	OMIM:616920
HP:0011220	Prominent forehead	1182	CLCN3	OMIM:619512
HP:0011220	Prominent forehead	23512	SUZ12	OMIM:618786
HP:0011220	Prominent forehead	85301	COL27A1	OMIM:615155
HP:0011220	Prominent forehead	6905	TBCE	OMIM:241410
HP:0011220	Prominent forehead	57498	KIDINS220	ORPHA:521390
HP:0011220	Prominent forehead	57498	KIDINS220	OMIM:617296
HP:0011220	Prominent forehead	3572	IL6ST	OMIM:619750
HP:0011220	Prominent forehead	5626	PROP1	ORPHA:226307
HP:0011220	Prominent forehead	89884	LHX4	ORPHA:226307
HP:0011220	Prominent forehead	8022	LHX3	ORPHA:226307
HP:0011220	Prominent forehead	5449	POU1F1	ORPHA:226307
HP:0011220	Prominent forehead	5449	POU1F1	OMIM:613038
HP:0011220	Prominent forehead	8820	HESX1	ORPHA:226307
HP:0011220	Prominent forehead	1857	DVL3	ORPHA:3107
HP:0011220	Prominent forehead	7474	WNT5A	ORPHA:3107
HP:0011220	Prominent forehead	1855	DVL1	ORPHA:3107
HP:0011220	Prominent forehead	2535	FZD2	ORPHA:3107
HP:0011220	Prominent forehead	285175	UNC80	OMIM:616801
HP:0011220	Prominent forehead	10056	FARSB	OMIM:613658
HP:0011220	Prominent forehead	4784	NFIX	ORPHA:420179
HP:0011220	Prominent forehead	4784	NFIX	OMIM:602535
HP:0011220	Prominent forehead	4784	NFIX	ORPHA:561
HP:0011220	Prominent forehead	11128	POLR3A	OMIM:264090
HP:0011220	Prominent forehead	3675	ITGA3	OMIM:614748
HP:0011220	Prominent forehead	8085	KMT2D	OMIM:620186
HP:0011220	Prominent forehead	2517	FUCA1	ORPHA:349
HP:0011220	Prominent forehead	2517	FUCA1	OMIM:230000
HP:0011220	Prominent forehead	285362	SUMF1	OMIM:272200
HP:0011220	Prominent forehead	51611	DPH5	OMIM:620070
HP:0011220	Prominent forehead	2316	FLNA	OMIM:300321
HP:0011220	Prominent forehead	2316	FLNA	OMIM:304120
HP:0011220	Prominent forehead	728294	D2HGDH	OMIM:600721
HP:0011220	Prominent forehead	26137	ZBTB20	OMIM:259050
HP:0011220	Prominent forehead	6774	STAT3	OMIM:147060
HP:0011220	Prominent forehead	6774	STAT3	ORPHA:2314
HP:0011220	Prominent forehead	9321	TRIP11	OMIM:184260
HP:0011220	Prominent forehead	8733	GPAA1	ORPHA:529665
HP:0011220	Prominent forehead	8733	GPAA1	OMIM:617810
HP:0011220	Prominent forehead	27086	FOXP1	ORPHA:391372
HP:0011220	Prominent forehead	27086	FOXP1	OMIM:613670
HP:0011220	Prominent forehead	113179	ADAT3	OMIM:615286
HP:0011220	Prominent forehead	113179	ADAT3	ORPHA:363528
HP:0011220	Prominent forehead	4849	CNOT3	OMIM:618672
HP:0011220	Prominent forehead	5324	PLAG1	ORPHA:397590
HP:0011220	Prominent forehead	5324	PLAG1	OMIM:618907
HP:0011220	Prominent forehead	8091	HMGA2	ORPHA:397590
HP:0011220	Prominent forehead	8091	HMGA2	OMIM:618908
HP:0011220	Prominent forehead	5591	PRKDC	OMIM:615966
HP:0011220	Prominent forehead	51341	ZBTB7A	OMIM:619769
HP:0011220	Prominent forehead	9968	MED12	OMIM:305450
HP:0011220	Prominent forehead	9968	MED12	OMIM:300895
HP:0011220	Prominent forehead	9968	MED12	OMIM:309520
HP:0011220	Prominent forehead	5832	ALDH18A1	OMIM:219150
HP:0011220	Prominent forehead	5832	ALDH18A1	ORPHA:90348
HP:0011220	Prominent forehead	5832	ALDH18A1	OMIM:616603
HP:0011220	Prominent forehead	471	ATIC	OMIM:608688
HP:0011220	Prominent forehead	471	ATIC	ORPHA:250977
HP:0011220	Prominent forehead	10430	TMEM147	OMIM:620075
HP:0011220	Prominent forehead	4920	ROR2	OMIM:268310
HP:0011220	Prominent forehead	51322	WAC	ORPHA:284169
HP:0011220	Prominent forehead	51322	WAC	OMIM:616708
HP:0011220	Prominent forehead	51322	WAC	ORPHA:466950
HP:0011220	Prominent forehead	57724	EPG5	OMIM:242840
HP:0011220	Prominent forehead	5295	PIK3R1	OMIM:269880
HP:0011220	Prominent forehead	5295	PIK3R1	ORPHA:3163
HP:0011220	Prominent forehead	254065	BRWD3	OMIM:300659
HP:0011220	Prominent forehead	9652	SKIC3	OMIM:222470
HP:0011220	Prominent forehead	9652	SKIC3	ORPHA:84064
HP:0011220	Prominent forehead	2006	ELN	ORPHA:90348
HP:0011220	Prominent forehead	10516	FBLN5	ORPHA:90348
HP:0011220	Prominent forehead	3930	LBR	OMIM:169400
HP:0011220	Prominent forehead	1107	CHD3	OMIM:618205
HP:0011220	Prominent forehead	374969	SVBP	OMIM:618569
HP:0011220	Prominent forehead	6261	RYR1	ORPHA:324581
HP:0011220	Prominent forehead	51574	LARP7	ORPHA:319671
HP:0011220	Prominent forehead	79791	FBXO31	OMIM:615979
HP:0011220	Prominent forehead	4882	NPR2	ORPHA:40
HP:0011220	Prominent forehead	4882	NPR2	OMIM:602875
HP:0011220	Prominent forehead	6513	SLC2A1	ORPHA:1942
HP:0011220	Prominent forehead	8831	SYNGAP1	ORPHA:1942
HP:0011220	Prominent forehead	1173	AP2M1	ORPHA:1942
HP:0011220	Prominent forehead	6323	SCN1A	ORPHA:1942
HP:0011220	Prominent forehead	340533	NEXMIF	ORPHA:1942
HP:0011220	Prominent forehead	1106	CHD2	ORPHA:1942
HP:0011220	Prominent forehead	6529	SLC6A1	ORPHA:1942
HP:0011220	Prominent forehead	5631	PRPS1	OMIM:300661
HP:0011220	Prominent forehead	171023	ASXL1	OMIM:605039
HP:0011220	Prominent forehead	1387	CREBBP	OMIM:618332
HP:0011220	Prominent forehead	1387	CREBBP	OMIM:180849
HP:0011220	Prominent forehead	2317	FLNB	OMIM:150250
HP:0011220	Prominent forehead	2317	FLNB	ORPHA:503
HP:0011220	Prominent forehead	2033	EP300	OMIM:618333
HP:0011220	Prominent forehead	2033	EP300	OMIM:180849
HP:0011220	Prominent forehead	8295	TRRAP	OMIM:618454
HP:0011220	Prominent forehead	9742	IFT140	OMIM:266920
HP:0011220	Prominent forehead	8573	CASK	OMIM:300422
HP:0011220	Prominent forehead	2702	GJA5	OMIM:612474
HP:0011220	Prominent forehead	2703	GJA8	OMIM:612474
HP:0011220	Prominent forehead	51025	PAM16	OMIM:613320
HP:0011220	Prominent forehead	3559	IL2RA	OMIM:606367
HP:0011220	Prominent forehead	8905	AP1S2	OMIM:304340
HP:0011220	Prominent forehead	3720	JARID2	OMIM:620098
HP:0011220	Prominent forehead	865	CBFB	OMIM:620099
HP:0011220	Prominent forehead	4038	LRP4	OMIM:212780
HP:0011220	Prominent forehead	7189	TRAF6	ORPHA:1810
HP:0011220	Prominent forehead	128178	EDARADD	ORPHA:1810
HP:0011220	Prominent forehead	126695	KDF1	ORPHA:1810
HP:0011220	Prominent forehead	10913	EDAR	ORPHA:1810
HP:0011220	Prominent forehead	3479	IGF1	ORPHA:73272
HP:0011220	Prominent forehead	388015	RTL1	ORPHA:254531
HP:0011220	Prominent forehead	388015	RTL1	ORPHA:254525
HP:0011220	Prominent forehead	388015	RTL1	ORPHA:96184
HP:0011220	Prominent forehead	8788	DLK1	ORPHA:254531
HP:0011220	Prominent forehead	8788	DLK1	ORPHA:254525
HP:0011220	Prominent forehead	8788	DLK1	ORPHA:96184
HP:0011220	Prominent forehead	55384	MEG3	ORPHA:254531
HP:0011220	Prominent forehead	55384	MEG3	ORPHA:254525
HP:0011220	Prominent forehead	55384	MEG3	ORPHA:96184
HP:0011220	Prominent forehead	8925	HERC1	OMIM:617011
HP:0011220	Prominent forehead	8925	HERC1	ORPHA:457359
HP:0011220	Prominent forehead	5898	RALA	OMIM:619311
HP:0011220	Prominent forehead	60529	ALX4	OMIM:613451
HP:0011220	Prominent forehead	23394	ADNP	OMIM:615873
HP:0011220	Prominent forehead	23314	SATB2	ORPHA:251028
HP:0011220	Prominent forehead	11133	KPTN	OMIM:615637
HP:0011220	Prominent forehead	11133	KPTN	ORPHA:397612
HP:0011220	Prominent forehead	10586	MAB21L2	OMIM:615877
HP:0011220	Prominent forehead	56623	INPP5E	OMIM:213300
HP:0011220	Prominent forehead	23363	OBSL1	OMIM:612921
HP:0011220	Prominent forehead	23028	KDM1A	OMIM:616728
HP:0011220	Prominent forehead	23028	KDM1A	ORPHA:477993
HP:0011220	Prominent forehead	5745	PTH1R	OMIM:600002
HP:0011220	Prominent forehead	5308	PITX2	ORPHA:782
HP:0011220	Prominent forehead	2296	FOXC1	ORPHA:782
HP:0011220	Prominent forehead	51412	ACTL6B	OMIM:618470
HP:0011220	Prominent forehead	6651	SON	OMIM:617140
HP:0011220	Prominent forehead	6651	SON	ORPHA:500150
HP:0011220	Prominent forehead	57520	HECW2	OMIM:617268
HP:0011220	Prominent forehead	8882	ZPR1	OMIM:619321
HP:0011220	Prominent forehead	998	CDC42	OMIM:616737
HP:0011220	Prominent forehead	998	CDC42	ORPHA:487796
HP:0011220	Prominent forehead	30008	EFEMP2	OMIM:614437
HP:0011220	Prominent forehead	5831	PYCR1	OMIM:614438
HP:0011220	Prominent forehead	5831	PYCR1	OMIM:612940
HP:0011220	Prominent forehead	4297	KMT2A	OMIM:605130
HP:0011220	Prominent forehead	170302	ARX	ORPHA:452
HP:0011220	Prominent forehead	2239	GPC4	OMIM:301026
HP:0011220	Prominent forehead	4621	MYH3	OMIM:193700
HP:0011220	Prominent forehead	6777	STAT5B	OMIM:245590
HP:0011220	Prominent forehead	2332	FMR1	ORPHA:449291
HP:0011220	Prominent forehead	8260	NAA10	OMIM:300855
HP:0011220	Prominent forehead	10265	IRX5	OMIM:611174
HP:0011220	Prominent forehead	7468	NSD2	OMIM:619695
HP:0011220	Prominent forehead	1778	DYNC1H1	OMIM:614563
HP:0011220	Prominent forehead	259232	NALCN	OMIM:615419
HP:0011220	Prominent forehead	1000	CDH2	OMIM:618929
HP:0011220	Prominent forehead	64093	SMOC1	ORPHA:1106
HP:0011220	Prominent forehead	64093	SMOC1	OMIM:206920
HP:0011220	Prominent forehead	22827	PUF60	ORPHA:508488
HP:0011220	Prominent forehead	22827	PUF60	OMIM:615583
HP:0011220	Prominent forehead	372	ARCN1	OMIM:617164
HP:0011220	Prominent forehead	164	AP1G1	OMIM:619467
HP:0011220	Prominent forehead	54681	P4HTM	OMIM:618493
HP:0011220	Prominent forehead	3758	KCNJ1	OMIM:241200
HP:0011220	Prominent forehead	2475	MTOR	ORPHA:457485
HP:0011220	Prominent forehead	79633	FAT4	OMIM:615546
HP:0011220	Prominent forehead	139285	AMER1	ORPHA:2780
HP:0011220	Prominent forehead	760	CA2	ORPHA:2785
HP:0011220	Prominent forehead	9791	PTDSS1	OMIM:151050
HP:0011220	Prominent forehead	9851	KIAA0753	OMIM:619476
HP:0011220	Prominent forehead	5977	DPF2	OMIM:618027
HP:0011220	Prominent forehead	10847	SRCAP	OMIM:619595
HP:0011220	Prominent forehead	91461	PKDCC	OMIM:618821
HP:0011220	Prominent forehead	4796	TONSL	ORPHA:93357
HP:0011220	Prominent forehead	10060	ABCC9	OMIM:239850
HP:0011220	Prominent forehead	80781	COL18A1	OMIM:267750
HP:0011220	Prominent forehead	2887	GRB10	ORPHA:96182
HP:0011220	Prominent forehead	8720	MBTPS1	OMIM:618392
HP:0011220	Prominent forehead	25839	COG4	OMIM:618150
HP:0011220	Prominent forehead	4893	NRAS	OMIM:137550
HP:0011220	Prominent forehead	3265	HRAS	OMIM:137550
HP:0011220	Prominent forehead	1718	DHCR24	ORPHA:35107
HP:0011220	Prominent forehead	3636	INPPL1	OMIM:258480
HP:0011220	Prominent forehead	6872	TAF1	OMIM:300966
HP:0011220	Prominent forehead	285590	SH3PXD2B	OMIM:249420
HP:0011220	Prominent forehead	9702	CEP57	OMIM:614114
HP:0011220	Prominent forehead	57688	ZSWIM6	OMIM:617865
HP:0011220	Prominent forehead	202018	TAPT1	OMIM:616897
HP:0011220	Prominent forehead	1806	DPYD	ORPHA:1675
HP:0011220	Prominent forehead	5500	PPP1CB	OMIM:617506
HP:0011220	Prominent forehead	2260	FGFR1	OMIM:123150
HP:0011220	Prominent forehead	2263	FGFR2	OMIM:123150
HP:0011220	Prominent forehead	2799	GNS	OMIM:252940
HP:0011220	Prominent forehead	10551	AGR2	OMIM:620233
HP:0011220	Prominent forehead	126792	B3GALT6	OMIM:271640
HP:0011220	Prominent forehead	126792	B3GALT6	OMIM:615349
HP:0011220	Prominent forehead	1376	CPT2	OMIM:608836
HP:0011220	Prominent forehead	6497	SKI	OMIM:182212
HP:0011220	Prominent forehead	57020	VPS35L	OMIM:619135
HP:0011220	Prominent forehead	10020	GNE	OMIM:269921
HP:0011220	Prominent forehead	10020	GNE	ORPHA:3166
HP:0011220	Prominent forehead	5528	PPP2R5D	ORPHA:457279
HP:0011220	Prominent forehead	2733	GLE1	OMIM:611890
HP:0011220	Prominent forehead	9487	PIGL	OMIM:280000
HP:0011220	Prominent forehead	1280	COL2A1	ORPHA:85166
HP:0011220	Prominent forehead	54187	NANS	OMIM:610442
HP:0011220	Prominent forehead	23389	MED13L	OMIM:616789
HP:0011220	Prominent forehead	55901	THSD1	OMIM:620244
HP:0011220	Prominent forehead	2801	GOLGA2	OMIM:620240
HP:0011220	Prominent forehead	9130	FAM50A	OMIM:300261
HP:0011220	Prominent forehead	9469	CHST3	OMIM:245600
HP:0011220	Prominent forehead	26229	B3GAT3	OMIM:245600
HP:0011220	Prominent forehead	23404	EXOSC2	OMIM:617763
HP:0011220	Prominent forehead	3832	KIF11	OMIM:152950
HP:0011220	Prominent forehead	92935	MARS2	OMIM:616430
HP:0011220	Prominent forehead	8398	PLA2G6	OMIM:256600
HP:0011220	Prominent forehead	25886	POC1A	OMIM:614813
HP:0011220	Prominent forehead	871	SERPINH1	OMIM:613848
HP:0011220	Prominent forehead	121340	SP7	OMIM:613849
HP:0100760	Clubbing of toes	3187	HNRNPH1	OMIM:620083
HP:0100760	Clubbing of toes	6595	SMARCA2	ORPHA:3051
HP:0100760	Clubbing of toes	7319	UBE2A	ORPHA:163956
HP:0100760	Clubbing of toes	3248	HPGD	ORPHA:217059
HP:0100760	Clubbing of toes	3248	HPGD	ORPHA:2796
HP:0100760	Clubbing of toes	3248	HPGD	ORPHA:1525
HP:0100760	Clubbing of toes	79651	RHBDF2	ORPHA:2198
HP:0100760	Clubbing of toes	9487	PIGL	ORPHA:3474
HP:0100760	Clubbing of toes	672	BRCA1	ORPHA:84
HP:0100760	Clubbing of toes	10459	MAD2L2	ORPHA:84
HP:0100760	Clubbing of toes	7516	XRCC2	ORPHA:84
HP:0100760	Clubbing of toes	29089	UBE2T	ORPHA:84
HP:0100760	Clubbing of toes	675	BRCA2	ORPHA:84
HP:0100760	Clubbing of toes	55120	FANCL	ORPHA:84
HP:0100760	Clubbing of toes	2177	FANCD2	ORPHA:84
HP:0100760	Clubbing of toes	2175	FANCA	ORPHA:84
HP:0100760	Clubbing of toes	2187	FANCB	ORPHA:84
HP:0100760	Clubbing of toes	2176	FANCC	ORPHA:84
HP:0100760	Clubbing of toes	2178	FANCE	ORPHA:84
HP:0100760	Clubbing of toes	2188	FANCF	ORPHA:84
HP:0100760	Clubbing of toes	2189	FANCG	ORPHA:84
HP:0100760	Clubbing of toes	5888	RAD51	ORPHA:84
HP:0100760	Clubbing of toes	5889	RAD51C	ORPHA:84
HP:0100760	Clubbing of toes	55159	RFWD3	ORPHA:84
HP:0100760	Clubbing of toes	83990	BRIP1	ORPHA:84
HP:0100760	Clubbing of toes	57697	FANCM	ORPHA:84
HP:0100760	Clubbing of toes	79728	PALB2	ORPHA:84
HP:0100760	Clubbing of toes	84464	SLX4	ORPHA:84
HP:0100760	Clubbing of toes	2072	ERCC4	ORPHA:84
HP:0100760	Clubbing of toes	55215	FANCI	ORPHA:84
HP:0100760	Clubbing of toes	6578	SLCO2A1	ORPHA:2796
HP:0100760	Clubbing of toes	7092	TLL1	ORPHA:99106
HP:0100761	Visceral angiomatosis	2658	GDF2	ORPHA:774
HP:0100761	Visceral angiomatosis	94	ACVRL1	ORPHA:774
HP:0100761	Visceral angiomatosis	4089	SMAD4	ORPHA:774
HP:0100761	Visceral angiomatosis	2022	ENG	ORPHA:774
HP:0100761	Visceral angiomatosis	5745	PTH1R	ORPHA:296
HP:0100761	Visceral angiomatosis	3418	IDH2	ORPHA:296
HP:0100761	Visceral angiomatosis	3417	IDH1	ORPHA:296
HP:0100761	Visceral angiomatosis	2263	FGFR2	ORPHA:1555
HP:0100761	Visceral angiomatosis	7010	TEK	ORPHA:1059
HP:0100761	Visceral angiomatosis	5290	PIK3CA	ORPHA:60040
HP:0100761	Visceral angiomatosis	2260	FGFR1	ORPHA:2396
HP:0100761	Visceral angiomatosis	3845	KRAS	ORPHA:2396
HP:0100761	Visceral angiomatosis	5728	PTEN	ORPHA:109
HP:0100761	Visceral angiomatosis	5728	PTEN	ORPHA:137608
HP:0100761	Visceral angiomatosis	5728	PTEN	ORPHA:744
HP:0100761	Visceral angiomatosis	1836	SLC26A2	ORPHA:628
HP:0100761	Visceral angiomatosis	207	AKT1	ORPHA:744
HP:0100761	Visceral angiomatosis	2776	GNAQ	ORPHA:3205
HP:0100763	Abnormality of the lymphatic system	57724	EPG5	OMIM:242840
HP:0100763	Abnormality of the lymphatic system	80144	FRAS1	OMIM:219000
HP:0100763	Abnormality of the lymphatic system	137814	NKX2-6	ORPHA:3384
HP:0100763	Abnormality of the lymphatic system	23129	PLXND1	ORPHA:3384
HP:0100763	Abnormality of the lymphatic system	57217	TTC7A	OMIM:243150
HP:0100763	Abnormality of the lymphatic system	57217	TTC7A	ORPHA:436252
HP:0100763	Abnormality of the lymphatic system	84876	ORAI1	OMIM:612782
HP:0100763	Abnormality of the lymphatic system	6097	RORC	OMIM:616622
HP:0100763	Abnormality of the lymphatic system	8425	LTBP4	OMIM:613177
HP:0100763	Abnormality of the lymphatic system	92579	G6PC3	OMIM:612541
HP:0100763	Abnormality of the lymphatic system	5297	PI4KA	ORPHA:436252
HP:0100763	Abnormality of the lymphatic system	7454	WAS	ORPHA:906
HP:0100763	Abnormality of the lymphatic system	7456	WIPF1	ORPHA:906
HP:0100763	Abnormality of the lymphatic system	11128	POLR3A	OMIM:264090
HP:0100763	Abnormality of the lymphatic system	5830	PEX5	OMIM:214110
HP:0100763	Abnormality of the lymphatic system	84172	POLR1B	ORPHA:861
HP:0100763	Abnormality of the lymphatic system	9533	POLR1C	ORPHA:861
HP:0100763	Abnormality of the lymphatic system	51082	POLR1D	ORPHA:861
HP:0100763	Abnormality of the lymphatic system	6949	TCOF1	ORPHA:861
HP:0100763	Abnormality of the lymphatic system	91754	NEK9	OMIM:617022
HP:0100763	Abnormality of the lymphatic system	56160	NSMCE3	OMIM:617241
HP:0100763	Abnormality of the lymphatic system	8626	TP63	ORPHA:1896
HP:0100763	Abnormality of the lymphatic system	9652	SKIC3	ORPHA:84064
HP:0100763	Abnormality of the lymphatic system	6499	SKIC2	ORPHA:84064
HP:0100763	Abnormality of the lymphatic system	341640	FREM2	OMIM:617666
HP:0100763	Abnormality of the lymphatic system	10466	COG5	ORPHA:263487
HP:0100763	Abnormality of the lymphatic system	2632	GBE1	OMIM:232500
HP:0100763	Abnormality of the lymphatic system	55823	VPS11	ORPHA:466934
HP:0100763	Abnormality of the lymphatic system	79796	ALG9	OMIM:608776
HP:0100763	Abnormality of the lymphatic system	3074	HEXB	OMIM:268800
HP:0100763	Abnormality of the lymphatic system	3074	HEXB	ORPHA:309155
HP:0100763	Abnormality of the lymphatic system	3716	JAK1	OMIM:618999
HP:0100763	Abnormality of the lymphatic system	2122	MECOM	OMIM:616738
HP:0100763	Abnormality of the lymphatic system	5476	CTSA	OMIM:256540
HP:0100763	Abnormality of the lymphatic system	9382	COG1	ORPHA:263508
HP:0100763	Abnormality of the lymphatic system	2212	FCGR2A	OMIM:219700
HP:0100763	Abnormality of the lymphatic system	1080	CFTR	OMIM:219700
HP:0100763	Abnormality of the lymphatic system	915	CD3D	ORPHA:169160
HP:0100763	Abnormality of the lymphatic system	916	CD3E	ORPHA:169160
HP:0100763	Abnormality of the lymphatic system	1777	DNASE2	OMIM:619858
HP:0100763	Abnormality of the lymphatic system	3376	IARS1	ORPHA:541423
HP:0100763	Abnormality of the lymphatic system	26154	ABCA12	OMIM:601277
HP:0100763	Abnormality of the lymphatic system	2783	GNB2	OMIM:619503
HP:0100763	Abnormality of the lymphatic system	2584	GALK1	ORPHA:79237
HP:0100763	Abnormality of the lymphatic system	10043	TOM1	ORPHA:391487
HP:0100763	Abnormality of the lymphatic system	8517	IKBKG	OMIM:301081
HP:0100763	Abnormality of the lymphatic system	100147744	RNU7-1	OMIM:619487
HP:0100763	Abnormality of the lymphatic system	100147744	RNU7-1	ORPHA:51
HP:0100763	Abnormality of the lymphatic system	374354	NHLRC2	OMIM:618278
HP:0100763	Abnormality of the lymphatic system	2263	FGFR2	OMIM:614592
HP:0100763	Abnormality of the lymphatic system	2263	FGFR2	ORPHA:313855
HP:0100763	Abnormality of the lymphatic system	10165	SLC25A13	ORPHA:247598
HP:0100763	Abnormality of the lymphatic system	9371	KIF3B	OMIM:618955
HP:0100763	Abnormality of the lymphatic system	2729	GCLC	ORPHA:33574
HP:0100763	Abnormality of the lymphatic system	7841	MOGS	ORPHA:79330
HP:0100763	Abnormality of the lymphatic system	388015	RTL1	ORPHA:96334
HP:0100763	Abnormality of the lymphatic system	8788	DLK1	ORPHA:96334
HP:0100763	Abnormality of the lymphatic system	55384	MEG3	ORPHA:96334
HP:0100763	Abnormality of the lymphatic system	7030	TFE3	OMIM:301066
HP:0100763	Abnormality of the lymphatic system	2193	FARSA	OMIM:619013
HP:0100763	Abnormality of the lymphatic system	5194	PEX13	OMIM:614885
HP:0100763	Abnormality of the lymphatic system	9939	RBM8A	OMIM:274000
HP:0100763	Abnormality of the lymphatic system	84153	RNASEH2C	OMIM:610329
HP:0100763	Abnormality of the lymphatic system	84153	RNASEH2C	ORPHA:51
HP:0100763	Abnormality of the lymphatic system	1513	CTSK	ORPHA:763
HP:0100763	Abnormality of the lymphatic system	9742	IFT140	OMIM:266920
HP:0100763	Abnormality of the lymphatic system	25939	SAMHD1	ORPHA:51
HP:0100763	Abnormality of the lymphatic system	79621	RNASEH2B	ORPHA:51
HP:0100763	Abnormality of the lymphatic system	134353	LSM11	ORPHA:51
HP:0100763	Abnormality of the lymphatic system	6006	RHCE	ORPHA:71275
HP:0100763	Abnormality of the lymphatic system	6309	SC5D	OMIM:607330
HP:0100763	Abnormality of the lymphatic system	5590	PRKCZ	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	2563	GABRD	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	23013	SPEN	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	8510	MMP23B	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	7798	LUZP1	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	6497	SKI	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	10630	PDPN	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	3339	HSPG2	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	10277	UBE4B	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	8514	KCNAB2	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	473	RERE	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	63976	PRDM16	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	54897	CASZ1	ORPHA:1606
HP:0100763	Abnormality of the lymphatic system	8091	HMGA2	ORPHA:94063
HP:0100763	Abnormality of the lymphatic system	23592	LEMD3	ORPHA:94063
HP:0100763	Abnormality of the lymphatic system	1497	CTNS	OMIM:219800
HP:0100763	Abnormality of the lymphatic system	7293	TNFRSF4	OMIM:615593
HP:0100763	Abnormality of the lymphatic system	3783	KCNN4	OMIM:616689
HP:0100763	Abnormality of the lymphatic system	3783	KCNN4	ORPHA:3202
HP:0100763	Abnormality of the lymphatic system	2074	ERCC6	ORPHA:90324
HP:0100763	Abnormality of the lymphatic system	2074	ERCC6	OMIM:133540
HP:0100763	Abnormality of the lymphatic system	8573	CASK	OMIM:300908
HP:0100763	Abnormality of the lymphatic system	2539	G6PD	OMIM:300908
HP:0100763	Abnormality of the lymphatic system	55240	STEAP3	OMIM:615234
HP:0100763	Abnormality of the lymphatic system	2720	GLB1	OMIM:230600
HP:0100763	Abnormality of the lymphatic system	2720	GLB1	OMIM:230650
HP:0100763	Abnormality of the lymphatic system	2720	GLB1	OMIM:230500
HP:0100763	Abnormality of the lymphatic system	755	CFAP410	OMIM:602271
HP:0100763	Abnormality of the lymphatic system	148738	HJV	OMIM:602390
HP:0100763	Abnormality of the lymphatic system	80270	HSD3B7	ORPHA:79301
HP:0100763	Abnormality of the lymphatic system	80270	HSD3B7	OMIM:607765
HP:0100763	Abnormality of the lymphatic system	197131	UBR1	OMIM:243800
HP:0100763	Abnormality of the lymphatic system	84433	CARD11	OMIM:616452
HP:0100763	Abnormality of the lymphatic system	5184	PEPD	OMIM:170100
HP:0100763	Abnormality of the lymphatic system	5184	PEPD	ORPHA:742
HP:0100763	Abnormality of the lymphatic system	65082	VPS33A	OMIM:617303
HP:0100763	Abnormality of the lymphatic system	84936	ZFYVE19	OMIM:619849
HP:0100763	Abnormality of the lymphatic system	10730	YME1L1	OMIM:617302
HP:0100763	Abnormality of the lymphatic system	51473	DCDC2	OMIM:616217
HP:0100763	Abnormality of the lymphatic system	51473	DCDC2	OMIM:617394
HP:0100763	Abnormality of the lymphatic system	55768	NGLY1	ORPHA:404454
HP:0100763	Abnormality of the lymphatic system	79158	GNPTAB	OMIM:252500
HP:0100763	Abnormality of the lymphatic system	79158	GNPTAB	ORPHA:576
HP:0100763	Abnormality of the lymphatic system	60561	RINT1	OMIM:618641
HP:0100763	Abnormality of the lymphatic system	2859	GPR35	ORPHA:171
HP:0100763	Abnormality of the lymphatic system	10507	SEMA4D	ORPHA:171
HP:0100763	Abnormality of the lymphatic system	4485	MST1	ORPHA:171
HP:0100763	Abnormality of the lymphatic system	6925	TCF4	ORPHA:171
HP:0100763	Abnormality of the lymphatic system	103	ADAR	OMIM:615010
HP:0100763	Abnormality of the lymphatic system	54567	DLL4	OMIM:616589
HP:0100763	Abnormality of the lymphatic system	1716	DGUOK	OMIM:251880
HP:0100763	Abnormality of the lymphatic system	1716	DGUOK	OMIM:617068
HP:0100763	Abnormality of the lymphatic system	1441	CSF3R	OMIM:162830
HP:0100763	Abnormality of the lymphatic system	2035	EPB41	ORPHA:288
HP:0100763	Abnormality of the lymphatic system	2035	EPB41	OMIM:611804
HP:0100763	Abnormality of the lymphatic system	2995	GYPC	ORPHA:288
HP:0100763	Abnormality of the lymphatic system	6710	SPTB	ORPHA:288
HP:0100763	Abnormality of the lymphatic system	6710	SPTB	ORPHA:822
HP:0100763	Abnormality of the lymphatic system	6710	SPTB	OMIM:616649
HP:0100763	Abnormality of the lymphatic system	6708	SPTA1	ORPHA:288
HP:0100763	Abnormality of the lymphatic system	6708	SPTA1	ORPHA:822
HP:0100763	Abnormality of the lymphatic system	57231	SNX14	OMIM:616354
HP:0100763	Abnormality of the lymphatic system	2623	GATA1	OMIM:314050
HP:0100763	Abnormality of the lymphatic system	2623	GATA1	ORPHA:231393
HP:0100763	Abnormality of the lymphatic system	2623	GATA1	ORPHA:79277
HP:0100763	Abnormality of the lymphatic system	1371	CPOX	OMIM:618892
HP:0100763	Abnormality of the lymphatic system	1371	CPOX	OMIM:121300
HP:0100763	Abnormality of the lymphatic system	80739	MPIG6B	OMIM:617441
HP:0100763	Abnormality of the lymphatic system	4645	MYO5B	OMIM:619868
HP:0100763	Abnormality of the lymphatic system	3039	HBA1	ORPHA:163596
HP:0100763	Abnormality of the lymphatic system	3039	HBA1	OMIM:613978
HP:0100763	Abnormality of the lymphatic system	3040	HBA2	ORPHA:163596
HP:0100763	Abnormality of the lymphatic system	3040	HBA2	OMIM:613978
HP:0100763	Abnormality of the lymphatic system	10019	SH2B3	OMIM:133100
HP:0100763	Abnormality of the lymphatic system	10019	SH2B3	ORPHA:3318
HP:0100763	Abnormality of the lymphatic system	10019	SH2B3	OMIM:187950
HP:0100763	Abnormality of the lymphatic system	10019	SH2B3	OMIM:254450
HP:0100763	Abnormality of the lymphatic system	2057	EPOR	OMIM:133100
HP:0100763	Abnormality of the lymphatic system	54914	FOCAD	OMIM:619991
HP:0100763	Abnormality of the lymphatic system	27125	AFF4	OMIM:616368
HP:0100763	Abnormality of the lymphatic system	286	ANK1	ORPHA:251066
HP:0100763	Abnormality of the lymphatic system	286	ANK1	OMIM:182900
HP:0100763	Abnormality of the lymphatic system	286	ANK1	ORPHA:822
HP:0100763	Abnormality of the lymphatic system	285362	SUMF1	OMIM:272200
HP:0100763	Abnormality of the lymphatic system	285362	SUMF1	ORPHA:585
HP:0100763	Abnormality of the lymphatic system	2990	GUSB	ORPHA:584
HP:0100763	Abnormality of the lymphatic system	2990	GUSB	OMIM:253220
HP:0100763	Abnormality of the lymphatic system	5244	ABCB4	OMIM:602347
HP:0100763	Abnormality of the lymphatic system	11311	VPS45	OMIM:615285
HP:0100763	Abnormality of the lymphatic system	2542	SLC37A4	OMIM:619525
HP:0100763	Abnormality of the lymphatic system	2542	SLC37A4	OMIM:232220
HP:0100763	Abnormality of the lymphatic system	540	ATP7B	OMIM:277900
HP:0100763	Abnormality of the lymphatic system	540	ATP7B	ORPHA:905
HP:0100763	Abnormality of the lymphatic system	2683	B4GALT1	ORPHA:79332
HP:0100763	Abnormality of the lymphatic system	4000	LMNA	ORPHA:280365
HP:0100763	Abnormality of the lymphatic system	4000	LMNA	ORPHA:2348
HP:0100763	Abnormality of the lymphatic system	2153	F5	ORPHA:131
HP:0100763	Abnormality of the lymphatic system	79989	IFT56	OMIM:619534
HP:0100763	Abnormality of the lymphatic system	5286	PIK3C2A	OMIM:618440
HP:0100763	Abnormality of the lymphatic system	654	BMP6	ORPHA:465508
HP:0100763	Abnormality of the lymphatic system	3077	HFE	ORPHA:465508
HP:0100763	Abnormality of the lymphatic system	3077	HFE	OMIM:235200
HP:0100763	Abnormality of the lymphatic system	54532	USP53	OMIM:619658
HP:0100763	Abnormality of the lymphatic system	2184	FAH	OMIM:276700
HP:0100763	Abnormality of the lymphatic system	2184	FAH	ORPHA:882
HP:0100763	Abnormality of the lymphatic system	5825	ABCD3	OMIM:616278
HP:0100763	Abnormality of the lymphatic system	5256	PHKA2	ORPHA:264580
HP:0100763	Abnormality of the lymphatic system	5256	PHKA2	OMIM:306000
HP:0100763	Abnormality of the lymphatic system	5261	PHKG2	ORPHA:264580
HP:0100763	Abnormality of the lymphatic system	5261	PHKG2	OMIM:613027
HP:0100763	Abnormality of the lymphatic system	344	APOC2	OMIM:207750
HP:0100763	Abnormality of the lymphatic system	5277	PIGA	OMIM:301072
HP:0100763	Abnormality of the lymphatic system	846	CASR	OMIM:239200
HP:0100763	Abnormality of the lymphatic system	846	CASR	ORPHA:417
HP:0100763	Abnormality of the lymphatic system	4594	MMUT	ORPHA:79312
HP:0100763	Abnormality of the lymphatic system	65992	DDRGK1	OMIM:602557
HP:0100763	Abnormality of the lymphatic system	6448	SGSH	OMIM:252900
HP:0100763	Abnormality of the lymphatic system	22806	IKZF3	OMIM:619437
HP:0100763	Abnormality of the lymphatic system	9842	PLEKHM1	OMIM:618107
HP:0100763	Abnormality of the lymphatic system	6916	TBXAS1	ORPHA:1802
HP:0100763	Abnormality of the lymphatic system	4023	LPL	OMIM:238600
HP:0100763	Abnormality of the lymphatic system	23451	SF3B1	ORPHA:75564
HP:0100763	Abnormality of the lymphatic system	5009	OTC	ORPHA:664
HP:0100763	Abnormality of the lymphatic system	7372	UMPS	ORPHA:30
HP:0100763	Abnormality of the lymphatic system	58484	NLRC4	OMIM:616050
HP:0100763	Abnormality of the lymphatic system	57104	PNPLA2	ORPHA:565612
HP:0100763	Abnormality of the lymphatic system	11277	TREX1	OMIM:225750
HP:0100763	Abnormality of the lymphatic system	22861	NLRP1	OMIM:617388
HP:0100763	Abnormality of the lymphatic system	23218	NBEAL2	OMIM:139090
HP:0100763	Abnormality of the lymphatic system	23218	NBEAL2	ORPHA:721
HP:0100763	Abnormality of the lymphatic system	4125	MAN2B1	OMIM:248500
HP:0100763	Abnormality of the lymphatic system	3756	KCNH1	OMIM:135500
HP:0100763	Abnormality of the lymphatic system	3756	KCNH1	ORPHA:3473
HP:0100763	Abnormality of the lymphatic system	6718	AKR1D1	OMIM:235555
HP:0100763	Abnormality of the lymphatic system	4864	NPC1	OMIM:257220
HP:0100763	Abnormality of the lymphatic system	7389	UROD	ORPHA:95159
HP:0100763	Abnormality of the lymphatic system	212	ALAS2	ORPHA:75563
HP:0100763	Abnormality of the lymphatic system	55630	SLC39A4	OMIM:201100
HP:0100763	Abnormality of the lymphatic system	546	ATRX	ORPHA:231401
HP:0100763	Abnormality of the lymphatic system	6007	RHD	OMIM:619462
HP:0100763	Abnormality of the lymphatic system	55340	GIMAP5	OMIM:619463
HP:0100763	Abnormality of the lymphatic system	8883	NAE1	OMIM:620210
HP:0100763	Abnormality of the lymphatic system	84701	COX4I2	OMIM:612714
HP:0100763	Abnormality of the lymphatic system	650	BMP2	OMIM:235200
HP:0100763	Abnormality of the lymphatic system	8943	AP3D1	OMIM:617050
HP:0100763	Abnormality of the lymphatic system	57003	CCDC47	OMIM:618268
HP:0100763	Abnormality of the lymphatic system	51095	TRNT1	OMIM:616084
HP:0100763	Abnormality of the lymphatic system	9420	CYP7B1	OMIM:613812
HP:0100763	Abnormality of the lymphatic system	84868	HAVCR2	OMIM:618398
HP:0100763	Abnormality of the lymphatic system	7504	XK	OMIM:300842
HP:0100763	Abnormality of the lymphatic system	10483	SEC23B	OMIM:224100
HP:0100763	Abnormality of the lymphatic system	60468	BACH2	OMIM:618394
HP:0100763	Abnormality of the lymphatic system	226	ALDOA	OMIM:611881
HP:0100763	Abnormality of the lymphatic system	3557	IL1RN	OMIM:612852
HP:0100763	Abnormality of the lymphatic system	2799	GNS	OMIM:252940
HP:0100763	Abnormality of the lymphatic system	5264	PHYH	ORPHA:773
HP:0100763	Abnormality of the lymphatic system	5191	PEX7	ORPHA:773
HP:0100763	Abnormality of the lymphatic system	7390	UROS	OMIM:263700
HP:0100763	Abnormality of the lymphatic system	7390	UROS	ORPHA:79277
HP:0100763	Abnormality of the lymphatic system	4938	OAS1	OMIM:618042
HP:0100763	Abnormality of the lymphatic system	3295	HSD17B4	OMIM:261515
HP:0100763	Abnormality of the lymphatic system	138050	HGSNAT	OMIM:252930
HP:0100763	Abnormality of the lymphatic system	5313	PKLR	ORPHA:766
HP:0100763	Abnormality of the lymphatic system	5313	PKLR	OMIM:266200
HP:0100763	Abnormality of the lymphatic system	613	BCR	ORPHA:521
HP:0100763	Abnormality of the lymphatic system	25	ABL1	ORPHA:521
HP:0100763	Abnormality of the lymphatic system	51626	DYNC2LI1	OMIM:617088
HP:0100763	Abnormality of the lymphatic system	5257	PHKB	OMIM:261750
HP:0100763	Abnormality of the lymphatic system	5257	PHKB	ORPHA:79240
HP:0100763	Abnormality of the lymphatic system	146059	CDAN1	OMIM:224120
HP:0100763	Abnormality of the lymphatic system	10535	RNASEH2A	OMIM:610333
HP:0100763	Abnormality of the lymphatic system	4669	NAGLU	OMIM:252920
HP:0100763	Abnormality of the lymphatic system	26276	VPS33B	OMIM:620010
HP:0100763	Abnormality of the lymphatic system	7066	THPO	ORPHA:71493
HP:0100763	Abnormality of the lymphatic system	7066	THPO	OMIM:187950
HP:0100763	Abnormality of the lymphatic system	2811	GP1BA	OMIM:153670
HP:0100763	Abnormality of the lymphatic system	6521	SLC4A1	OMIM:185020
HP:0100763	Abnormality of the lymphatic system	6521	SLC4A1	ORPHA:822
HP:0100763	Abnormality of the lymphatic system	6521	SLC4A1	OMIM:612653
HP:0100763	Abnormality of the lymphatic system	6521	SLC4A1	ORPHA:3202
HP:0100763	Abnormality of the lymphatic system	55532	SLC30A10	ORPHA:309854
HP:0100763	Abnormality of the lymphatic system	673	BRAF	OMIM:115150
HP:0100763	Abnormality of the lymphatic system	857	CAV1	OMIM:612526
HP:0100763	Abnormality of the lymphatic system	4758	NEU1	OMIM:256550
HP:0100763	Abnormality of the lymphatic system	4758	NEU1	ORPHA:812
HP:0100763	Abnormality of the lymphatic system	2038	EPB42	ORPHA:822
HP:0100763	Abnormality of the lymphatic system	2038	EPB42	OMIM:612690
HP:0100763	Abnormality of the lymphatic system	1352	COX10	OMIM:619046
HP:0100763	Abnormality of the lymphatic system	6005	RHAG	OMIM:185000
HP:0100763	Abnormality of the lymphatic system	6005	RHAG	ORPHA:3203
HP:0100763	Abnormality of the lymphatic system	8647	ABCB11	OMIM:601847
HP:0100763	Abnormality of the lymphatic system	5699	PSMB10	OMIM:619175
HP:0100763	Abnormality of the lymphatic system	5468	PPARG	ORPHA:79083
HP:0100763	Abnormality of the lymphatic system	686	BTD	OMIM:253260
HP:0100763	Abnormality of the lymphatic system	8792	TNFRSF11A	OMIM:612301
HP:0100763	Abnormality of the lymphatic system	8546	AP3B1	OMIM:608233
HP:0100763	Abnormality of the lymphatic system	10555	AGPAT2	OMIM:608594
HP:0100763	Abnormality of the lymphatic system	1717	DHCR7	OMIM:270400
HP:0100763	Abnormality of the lymphatic system	23230	VPS13A	ORPHA:2388
HP:0100763	Abnormality of the lymphatic system	526	ATP6V1B2	ORPHA:3473
HP:0100763	Abnormality of the lymphatic system	3782	KCNN3	ORPHA:3473
HP:0100763	Abnormality of the lymphatic system	175	AGA	ORPHA:93
HP:0100763	Abnormality of the lymphatic system	4853	NOTCH2	ORPHA:955
HP:0100763	Abnormality of the lymphatic system	338328	GPIHBP1	OMIM:615947
HP:0100763	Abnormality of the lymphatic system	80216	ALPK1	OMIM:614979
HP:0100763	Abnormality of the lymphatic system	4069	LYZ	OMIM:105200
HP:0100763	Abnormality of the lymphatic system	335	APOA1	OMIM:105200
HP:0100763	Abnormality of the lymphatic system	567	B2M	OMIM:105200
HP:0100763	Abnormality of the lymphatic system	7840	ALMS1	ORPHA:64
HP:0100763	Abnormality of the lymphatic system	5828	PEX2	OMIM:614866
HP:0100763	Abnormality of the lymphatic system	64135	IFIH1	OMIM:615846
HP:0100763	Abnormality of the lymphatic system	8813	DPM1	OMIM:608799
HP:0100763	Abnormality of the lymphatic system	50628	GEMIN4	OMIM:617913
HP:0100763	Abnormality of the lymphatic system	57817	HAMP	OMIM:613313
HP:0100763	Abnormality of the lymphatic system	84317	CCDC115	OMIM:616828
HP:0100763	Abnormality of the lymphatic system	64241	ABCG8	OMIM:210250
HP:0100763	Abnormality of the lymphatic system	28962	OSTM1	OMIM:259720
HP:0100763	Abnormality of the lymphatic system	93183	PIGM	OMIM:610293
HP:0100763	Abnormality of the lymphatic system	284119	CAVIN1	OMIM:613327
HP:0100763	Abnormality of the lymphatic system	57410	SCYL1	OMIM:616719
HP:0100763	Abnormality of the lymphatic system	219285	SAMD9L	ORPHA:2585
HP:0100763	Abnormality of the lymphatic system	6888	TALDO1	OMIM:606003
HP:0100763	Abnormality of the lymphatic system	56052	ALG1	OMIM:608540
HP:0100763	Abnormality of the lymphatic system	91949	COG7	OMIM:608779
HP:0100763	Abnormality of the lymphatic system	7167	TPI1	OMIM:615512
HP:0100763	Abnormality of the lymphatic system	26160	IFT172	OMIM:615630
HP:0100763	Abnormality of the lymphatic system	84529	CDIN1	OMIM:615631
HP:0100763	Abnormality of the lymphatic system	6513	SLC2A1	OMIM:612126
HP:0100763	Abnormality of the lymphatic system	6513	SLC2A1	OMIM:608885
HP:0100763	Abnormality of the lymphatic system	11133	KPTN	OMIM:615637
HP:0100763	Abnormality of the lymphatic system	5156	PDGFRA	OMIM:607685
HP:0100763	Abnormality of the lymphatic system	79650	USB1	OMIM:604173
HP:0100763	Abnormality of the lymphatic system	79650	USB1	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	411	ARSB	OMIM:253200
HP:0100763	Abnormality of the lymphatic system	669	BPGM	OMIM:222800
HP:0100763	Abnormality of the lymphatic system	4792	NFKBIA	OMIM:612132
HP:0100763	Abnormality of the lymphatic system	9076	CLDN1	ORPHA:59303
HP:0100763	Abnormality of the lymphatic system	9076	CLDN1	OMIM:607626
HP:0100763	Abnormality of the lymphatic system	9663	LPIN2	ORPHA:77297
HP:0100763	Abnormality of the lymphatic system	3930	LBR	OMIM:613471
HP:0100763	Abnormality of the lymphatic system	51218	GLRX5	OMIM:616860
HP:0100763	Abnormality of the lymphatic system	2821	GPI	OMIM:613470
HP:0100763	Abnormality of the lymphatic system	6663	SOX10	ORPHA:163746
HP:0100763	Abnormality of the lymphatic system	3248	HPGD	ORPHA:2796
HP:0100763	Abnormality of the lymphatic system	6578	SLCO2A1	ORPHA:2796
HP:0100763	Abnormality of the lymphatic system	9056	SLC7A7	OMIM:222700
HP:0100763	Abnormality of the lymphatic system	57511	COG6	OMIM:614576
HP:0100763	Abnormality of the lymphatic system	56623	INPP5E	ORPHA:1454
HP:0100763	Abnormality of the lymphatic system	25839	COG4	OMIM:613489
HP:0100763	Abnormality of the lymphatic system	2328	FMO3	OMIM:602079
HP:0100763	Abnormality of the lymphatic system	5265	SERPINA1	OMIM:613490
HP:0100763	Abnormality of the lymphatic system	10367	MICU1	OMIM:615673
HP:0100763	Abnormality of the lymphatic system	26580	BSCL2	OMIM:269700
HP:0100763	Abnormality of the lymphatic system	2517	FUCA1	OMIM:230000
HP:0100763	Abnormality of the lymphatic system	2548	GAA	OMIM:232300
HP:0100763	Abnormality of the lymphatic system	5205	ATP8B1	OMIM:211600
HP:0100763	Abnormality of the lymphatic system	2065	ERBB3	OMIM:133180
HP:0100763	Abnormality of the lymphatic system	7040	TGFB1	ORPHA:1328
HP:0100763	Abnormality of the lymphatic system	1718	DHCR24	ORPHA:35107
HP:0100763	Abnormality of the lymphatic system	3098	HK1	OMIM:235700
HP:0100763	Abnormality of the lymphatic system	100506658	OCLN	OMIM:251290
HP:0100763	Abnormality of the lymphatic system	10577	NPC2	OMIM:607625
HP:0100763	Abnormality of the lymphatic system	2819	GPD1	OMIM:614480
HP:0100763	Abnormality of the lymphatic system	10020	GNE	OMIM:269921
HP:0100763	Abnormality of the lymphatic system	26503	SLC17A5	OMIM:269920
HP:0100763	Abnormality of the lymphatic system	4724	NDUFS4	OMIM:252010
HP:0100763	Abnormality of the lymphatic system	3458	IFNG	OMIM:618963
HP:0100763	Abnormality of the lymphatic system	81570	CLPB	OMIM:619813
HP:0100763	Abnormality of the lymphatic system	10464	PIBF1	OMIM:617767
HP:0100763	Abnormality of the lymphatic system	80169	CTC1	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	26277	TINF2	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	55651	NHP2	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	55135	WRAP53	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	51750	RTEL1	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	7012	TERC	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	55505	NOP10	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	5073	PARN	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	1736	DKC1	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	7298	TYMS	ORPHA:1775
HP:0100763	Abnormality of the lymphatic system	3636	INPPL1	ORPHA:2746
HP:0100763	Abnormality of the lymphatic system	6929	TCF3	OMIM:619824
HP:0100763	Abnormality of the lymphatic system	2582	GALE	OMIM:230350
HP:0100763	Abnormality of the lymphatic system	27019	DNAI1	OMIM:244400
HP:0100763	Abnormality of the lymphatic system	27019	DNAI1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	7547	ZIC3	OMIM:306955
HP:0100763	Abnormality of the lymphatic system	2294	FOXF1	OMIM:265380
HP:0100763	Abnormality of the lymphatic system	2294	FOXF1	ORPHA:210122
HP:0100763	Abnormality of the lymphatic system	326	AIRE	OMIM:240300
HP:0100763	Abnormality of the lymphatic system	2657	GDF1	OMIM:208530
HP:0100763	Abnormality of the lymphatic system	55329	MNS1	OMIM:618948
HP:0100763	Abnormality of the lymphatic system	4087	SMAD2	OMIM:619657
HP:0100763	Abnormality of the lymphatic system	284086	NEK8	OMIM:615415
HP:0100763	Abnormality of the lymphatic system	7473	WNT3	OMIM:273395
HP:0100763	Abnormality of the lymphatic system	4838	NODAL	OMIM:270100
HP:0100763	Abnormality of the lymphatic system	53335	BCL11A	ORPHA:251380
HP:0100763	Abnormality of the lymphatic system	10661	KLF1	ORPHA:251380
HP:0100763	Abnormality of the lymphatic system	3047	HBG1	ORPHA:251380
HP:0100763	Abnormality of the lymphatic system	3048	HBG2	ORPHA:251380
HP:0100763	Abnormality of the lymphatic system	25981	DNAH1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	115948	ODAD3	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	54768	HYDIN	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	352909	DNAAF3	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	27148	STK36	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	51314	NME8	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	92749	DRC1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	54970	TTC12	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	152110	NEK10	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	8481	OFD1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	2302	FOXJ1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	221421	RSPH9	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	85478	CCDC65	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	55036	CCDC40	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	51364	ZMYND10	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	64446	DNAI2	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	6674	SPAG1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	83544	DNAL1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	89765	RSPH1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	83538	ODAD4	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	200373	CFAP221	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	374407	DNAJB13	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	55172	DNAAF2	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	161582	DNAAF4	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	2622	GAS8	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	23639	DNAAF11	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	345895	RSPH4A	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	54919	DNAAF5	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	6103	RPGR	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	388389	CCDC103	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	93233	ODAD1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	55130	ODAD2	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	1767	DNAH5	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	83861	RSPH3	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	345643	MCIDAS	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	56683	CFAP298	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	79925	SPEF2	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	10309	CCNO	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	115399	LRRC56	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	139212	DNAAF6	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	123872	DNAAF1	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	85016	CFAP300	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	339829	CCDC39	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	8701	DNAH11	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	1770	DNAH9	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	246176	GAS2L2	ORPHA:244
HP:0100763	Abnormality of the lymphatic system	9839	ZEB2	ORPHA:261537
HP:0100763	Abnormality of the lymphatic system	9839	ZEB2	ORPHA:261552
HP:0100763	Abnormality of the lymphatic system	84314	TMEM107	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	26123	TCTN3	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	79867	TCTN2	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	80776	B9D2	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	79600	TCTN1	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	57096	RPGRIP1	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	79848	CSPP1	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	80184	CEP290	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	51259	TMEM216	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	57545	CC2D2A	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	79583	TMEM231	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	91147	TMEM67	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	79770	TXNDC15	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	27077	B9D1	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	23322	RPGRIP1L	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	54903	MKS1	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	54903	MKS1	OMIM:249000
HP:0100763	Abnormality of the lymphatic system	65062	TMEM237	ORPHA:564
HP:0100763	Abnormality of the lymphatic system	27031	NPHP3	OMIM:208540
HP:0100763	Abnormality of the lymphatic system	90416	CCDC32	OMIM:619123
HP:0100763	Abnormality of the lymphatic system	4613	MYCN	OMIM:164280
HP:0100763	Abnormality of the lymphatic system	7291	TWIST1	OMIM:617746
HP:0100763	Abnormality of the lymphatic system	55997	CFC1	OMIM:605376
HP:0100763	Abnormality of the lymphatic system	3921	RPSA	OMIM:271400
HP:0100763	Abnormality of the lymphatic system	745	MYRF	OMIM:618280
HP:0100763	Abnormality of the lymphatic system	157570	ESCO2	OMIM:268300
HP:0100763	Abnormality of the lymphatic system	537	ATP6AP1	OMIM:300972
HP:0100763	Abnormality of the lymphatic system	1387	CREBBP	OMIM:180849
HP:0100763	Abnormality of the lymphatic system	2033	EP300	OMIM:180849
HP:0100763	Abnormality of the lymphatic system	55012	PPP2R3C	OMIM:618419
HP:0100763	Abnormality of the lymphatic system	5557	PRIM1	OMIM:620005
HP:0100763	Abnormality of the lymphatic system	55770	EXOC2	OMIM:619306
HP:0100763	Abnormality of the lymphatic system	53834	FGFRL1	OMIM:194190
HP:0100763	Abnormality of the lymphatic system	1487	CTBP1	OMIM:194190
HP:0100763	Abnormality of the lymphatic system	3954	LETM1	OMIM:194190
HP:0100763	Abnormality of the lymphatic system	7468	NSD2	OMIM:194190
HP:0100763	Abnormality of the lymphatic system	10815	CPLX1	OMIM:194190
HP:0100763	Abnormality of the lymphatic system	1063	CENPF	OMIM:243605
HP:0100763	Abnormality of the lymphatic system	219844	HYLS1	OMIM:236680
HP:0100763	Abnormality of the lymphatic system	2239	GPC4	ORPHA:373
HP:0100763	Abnormality of the lymphatic system	2239	GPC4	OMIM:312870
HP:0100763	Abnormality of the lymphatic system	57539	WDR35	OMIM:613610
HP:0100763	Abnormality of the lymphatic system	50937	CDON	OMIM:614226
HP:0100763	Abnormality of the lymphatic system	118856	MMP21	OMIM:616749
HP:0100763	Abnormality of the lymphatic system	51715	RAB23	OMIM:201000
HP:0100763	Abnormality of the lymphatic system	51715	RAB23	ORPHA:65759
HP:0100763	Abnormality of the lymphatic system	55159	RFWD3	OMIM:617784
HP:0100763	Abnormality of the lymphatic system	25790	CFAP45	OMIM:619608
HP:0100763	Abnormality of the lymphatic system	1954	MEGF8	ORPHA:65759
HP:0100763	Abnormality of the lymphatic system	9968	MED12	OMIM:301068
HP:0100763	Abnormality of the lymphatic system	171023	ASXL1	ORPHA:98850
HP:0100763	Abnormality of the lymphatic system	54790	TET2	ORPHA:98850
HP:0100763	Abnormality of the lymphatic system	867	CBL	ORPHA:98850
HP:0100763	Abnormality of the lymphatic system	861	RUNX1	ORPHA:98850
HP:0100763	Abnormality of the lymphatic system	6427	SRSF2	ORPHA:98850
HP:0100763	Abnormality of the lymphatic system	355	FAS	ORPHA:3261
HP:0100763	Abnormality of the lymphatic system	356	FASLG	ORPHA:3261
HP:0100763	Abnormality of the lymphatic system	5580	PRKCD	ORPHA:3261
HP:0100763	Abnormality of the lymphatic system	843	CASP10	ORPHA:3261
HP:0100763	Abnormality of the lymphatic system	10125	RASGRP1	ORPHA:3261
HP:0100763	Abnormality of the lymphatic system	6609	SMPD1	ORPHA:77293
HP:0100763	Abnormality of the lymphatic system	2629	GBA1	OMIM:230800
HP:0100763	Abnormality of the lymphatic system	2629	GBA1	ORPHA:77259
HP:0100763	Abnormality of the lymphatic system	3043	HBB	ORPHA:231226
HP:0100763	Abnormality of the lymphatic system	3043	HBB	ORPHA:231214
HP:0100763	Abnormality of the lymphatic system	83737	ITCH	OMIM:613385
HP:0100763	Abnormality of the lymphatic system	83737	ITCH	ORPHA:228426
HP:0100763	Abnormality of the lymphatic system	7289	TULP3	OMIM:619902
HP:0100763	Abnormality of the lymphatic system	3988	LIPA	OMIM:278000
HP:0100763	Abnormality of the lymphatic system	4851	NOTCH1	OMIM:616028
HP:0100763	Abnormality of the lymphatic system	199221	DZIP1L	ORPHA:731
HP:0100763	Abnormality of the lymphatic system	5314	PKHD1	ORPHA:731
HP:0100763	Abnormality of the lymphatic system	5660	PSAP	OMIM:610539
HP:0100763	Abnormality of the lymphatic system	950	SCARB2	ORPHA:77259
HP:0100763	Abnormality of the lymphatic system	9780	PIEZO1	OMIM:616843
HP:0100763	Abnormality of the lymphatic system	1604	CD55	OMIM:226300
HP:0100763	Abnormality of the lymphatic system	64170	CARD9	OMIM:212050
HP:0100763	Abnormality of the lymphatic system	90268	OTULIN	OMIM:617099
HP:0100763	Abnormality of the lymphatic system	3071	NCKAP1L	OMIM:618982
HP:0100763	Abnormality of the lymphatic system	144811	LACC1	ORPHA:85414
HP:0100763	Abnormality of the lymphatic system	4282	MIF	ORPHA:85414
HP:0100763	Abnormality of the lymphatic system	3569	IL6	ORPHA:85414
HP:0100763	Abnormality of the lymphatic system	114548	NLRP3	OMIM:617772
HP:0100763	Abnormality of the lymphatic system	114548	NLRP3	OMIM:607115
HP:0100763	Abnormality of the lymphatic system	114548	NLRP3	ORPHA:1451
HP:0100763	Abnormality of the lymphatic system	3815	KIT	ORPHA:98849
HP:0100763	Abnormality of the lymphatic system	3815	KIT	ORPHA:79455
HP:0100763	Abnormality of the lymphatic system	987	LRBA	OMIM:614700
HP:0100763	Abnormality of the lymphatic system	811	CALR	ORPHA:824
HP:0100763	Abnormality of the lymphatic system	4352	MPL	ORPHA:824
HP:0100763	Abnormality of the lymphatic system	3717	JAK2	ORPHA:824
HP:0100763	Abnormality of the lymphatic system	7518	XRCC4	ORPHA:99812
HP:0100763	Abnormality of the lymphatic system	3981	LIG4	ORPHA:99812
HP:0100763	Abnormality of the lymphatic system	3981	LIG4	ORPHA:39041
HP:0100763	Abnormality of the lymphatic system	6775	STAT4	ORPHA:85408
HP:0100763	Abnormality of the lymphatic system	6775	STAT4	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	6775	STAT4	ORPHA:93552
HP:0100763	Abnormality of the lymphatic system	3560	IL2RB	ORPHA:85408
HP:0100763	Abnormality of the lymphatic system	3560	IL2RB	OMIM:618495
HP:0100763	Abnormality of the lymphatic system	79722	ANKRD55	ORPHA:85408
HP:0100763	Abnormality of the lymphatic system	919	CD247	ORPHA:85408
HP:0100763	Abnormality of the lymphatic system	5771	PTPN2	ORPHA:85408
HP:0100763	Abnormality of the lymphatic system	939	CD27	OMIM:615122
HP:0100763	Abnormality of the lymphatic system	23149	FCHO1	OMIM:619164
HP:0100763	Abnormality of the lymphatic system	841	CASP8	OMIM:607271
HP:0100763	Abnormality of the lymphatic system	56259	CTNNBL1	OMIM:619846
HP:0100763	Abnormality of the lymphatic system	54	ACP5	OMIM:607944
HP:0100763	Abnormality of the lymphatic system	6772	STAT1	OMIM:614162
HP:0100763	Abnormality of the lymphatic system	23495	TNFRSF13B	OMIM:240500
HP:0100763	Abnormality of the lymphatic system	23495	TNFRSF13B	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	115650	TNFRSF13C	OMIM:240500
HP:0100763	Abnormality of the lymphatic system	115650	TNFRSF13C	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	1380	CR2	OMIM:240500
HP:0100763	Abnormality of the lymphatic system	1380	CR2	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	29851	ICOS	OMIM:240500
HP:0100763	Abnormality of the lymphatic system	29851	ICOS	OMIM:607594
HP:0100763	Abnormality of the lymphatic system	29851	ICOS	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	930	CD19	OMIM:240500
HP:0100763	Abnormality of the lymphatic system	930	CD19	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	1493	CTLA4	OMIM:616100
HP:0100763	Abnormality of the lymphatic system	1493	CTLA4	ORPHA:2584
HP:0100763	Abnormality of the lymphatic system	1493	CTLA4	ORPHA:3162
HP:0100763	Abnormality of the lymphatic system	1130	LYST	ORPHA:167
HP:0100763	Abnormality of the lymphatic system	1130	LYST	OMIM:214500
HP:0100763	Abnormality of the lymphatic system	56984	PSMG2	OMIM:619183
HP:0100763	Abnormality of the lymphatic system	7374	UNG	OMIM:608106
HP:0100763	Abnormality of the lymphatic system	28755	TRAC	OMIM:615387
HP:0100763	Abnormality of the lymphatic system	595	CCND1	ORPHA:52416
HP:0100763	Abnormality of the lymphatic system	595	CCND1	ORPHA:29073
HP:0100763	Abnormality of the lymphatic system	3572	IL6ST	OMIM:619750
HP:0100763	Abnormality of the lymphatic system	9636	ISG15	OMIM:616126
HP:0100763	Abnormality of the lymphatic system	6049	RNF6	ORPHA:99977
HP:0100763	Abnormality of the lymphatic system	7048	TGFBR2	ORPHA:99977
HP:0100763	Abnormality of the lymphatic system	51741	WWOX	ORPHA:99977
HP:0100763	Abnormality of the lymphatic system	9940	DLEC1	ORPHA:99977
HP:0100763	Abnormality of the lymphatic system	2624	GATA2	ORPHA:3226
HP:0100763	Abnormality of the lymphatic system	4210	MEFV	ORPHA:342
HP:0100763	Abnormality of the lymphatic system	4210	MEFV	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	5551	PRF1	OMIM:603553
HP:0100763	Abnormality of the lymphatic system	5551	PRF1	ORPHA:540
HP:0100763	Abnormality of the lymphatic system	3575	IL7R	ORPHA:169154
HP:0100763	Abnormality of the lymphatic system	3575	IL7R	ORPHA:39041
HP:0100763	Abnormality of the lymphatic system	3575	IL7R	OMIM:608971
HP:0100763	Abnormality of the lymphatic system	8676	STX11	OMIM:603552
HP:0100763	Abnormality of the lymphatic system	8676	STX11	ORPHA:540
HP:0100763	Abnormality of the lymphatic system	57169	ZNFX1	OMIM:619644
HP:0100763	Abnormality of the lymphatic system	5692	PSMB4	OMIM:617591
HP:0100763	Abnormality of the lymphatic system	5698	PSMB9	OMIM:617591
HP:0100763	Abnormality of the lymphatic system	8565	YARS1	OMIM:619418
HP:0100763	Abnormality of the lymphatic system	50943	FOXP3	ORPHA:37042
HP:0100763	Abnormality of the lymphatic system	50943	FOXP3	OMIM:304790
HP:0100763	Abnormality of the lymphatic system	64127	NOD2	ORPHA:90340
HP:0100763	Abnormality of the lymphatic system	51311	TLR8	OMIM:301078
HP:0100763	Abnormality of the lymphatic system	940	CD28	ORPHA:2584
HP:0100763	Abnormality of the lymphatic system	940	CD28	ORPHA:3162
HP:0100763	Abnormality of the lymphatic system	7133	TNFRSF1B	ORPHA:2584
HP:0100763	Abnormality of the lymphatic system	7133	TNFRSF1B	ORPHA:3162
HP:0100763	Abnormality of the lymphatic system	149233	IL23R	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	3586	IL10	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	1230	CCR1	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	3592	IL12A	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	101928376	IL12A-AS1	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	7099	TLR4	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	720	C4A	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	337867	UBAC2	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	51752	ERAP1	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	8302	KLRC4	ORPHA:117
HP:0100763	Abnormality of the lymphatic system	5293	PIK3CD	OMIM:615513
HP:0100763	Abnormality of the lymphatic system	100151683	RNU4ATAC	ORPHA:353298
HP:0100763	Abnormality of the lymphatic system	100151683	RNU4ATAC	OMIM:616651
HP:0100763	Abnormality of the lymphatic system	6696	SPP1	ORPHA:93552
HP:0100763	Abnormality of the lymphatic system	3654	IRAK1	ORPHA:93552
HP:0100763	Abnormality of the lymphatic system	1776	DNASE1L3	ORPHA:36412
HP:0100763	Abnormality of the lymphatic system	4173	MCM4	OMIM:609981
HP:0100763	Abnormality of the lymphatic system	10312	TCIRG1	ORPHA:667
HP:0100763	Abnormality of the lymphatic system	1186	CLCN7	ORPHA:667
HP:0100763	Abnormality of the lymphatic system	29887	SNX10	ORPHA:667
HP:0100763	Abnormality of the lymphatic system	8600	TNFSF11	ORPHA:667
HP:0100763	Abnormality of the lymphatic system	201294	UNC13D	ORPHA:540
HP:0100763	Abnormality of the lymphatic system	6813	STXBP2	ORPHA:540
HP:0100763	Abnormality of the lymphatic system	6813	STXBP2	OMIM:613101
HP:0100763	Abnormality of the lymphatic system	57379	AICDA	OMIM:605258
HP:0100763	Abnormality of the lymphatic system	9948	WDR1	OMIM:150550
HP:0100763	Abnormality of the lymphatic system	9837	GINS1	OMIM:617827
HP:0100763	Abnormality of the lymphatic system	5978	REST	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	129563	DIS3L2	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	675	BRCA2	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	675	BRCA2	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	9319	TRIP13	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	10155	TRIM28	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	11281	POU6F2	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	2719	GPC3	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	283120	H19	ORPHA:654
HP:0100763	Abnormality of the lymphatic system	331	XIAP	OMIM:308240
HP:0100763	Abnormality of the lymphatic system	4068	SH2D1A	OMIM:308240
HP:0100763	Abnormality of the lymphatic system	427	ASAH1	ORPHA:333
HP:0100763	Abnormality of the lymphatic system	672	BRCA1	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	285282	RABL3	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	7157	TP53	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	79728	PALB2	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	4089	SMAD4	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	23022	PALLD	ORPHA:1333
HP:0100763	Abnormality of the lymphatic system	4790	NFKB1	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	4791	NFKB2	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	8742	TNFSF12	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	931	MS4A1	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	975	CD81	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	359948	IRF2BP2	ORPHA:1572
HP:0100763	Abnormality of the lymphatic system	359948	IRF2BP2	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	5873	RAB27A	ORPHA:79477
HP:0100763	Abnormality of the lymphatic system	970	CD70	OMIM:618261
HP:0100763	Abnormality of the lymphatic system	3702	ITK	OMIM:613011
HP:0100763	Abnormality of the lymphatic system	6023	RMRP	ORPHA:39041
HP:0100763	Abnormality of the lymphatic system	51816	ADA2	OMIM:615688
HP:0100763	Abnormality of the lymphatic system	3931	LCAT	ORPHA:79292
HP:0100763	Abnormality of the lymphatic system	91662	NLRP12	OMIM:611762
HP:0100763	Abnormality of the lymphatic system	51371	POMP	OMIM:618048
HP:0100763	Abnormality of the lymphatic system	8651	SOCS1	OMIM:619375
HP:0100763	Abnormality of the lymphatic system	27040	LAT	OMIM:617514
HP:0100763	Abnormality of the lymphatic system	6850	SYK	OMIM:619381
HP:0100763	Abnormality of the lymphatic system	6774	STAT3	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	5371	PML	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	5914	RARA	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	81608	FIP1L1	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	4869	NPM1	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	5573	PRKAR1A	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	54880	BCOR	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	64859	NABP1	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	6777	STAT5B	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	4926	NUMA1	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	7704	ZBTB16	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	79718	TBL1XR1	ORPHA:520
HP:0100763	Abnormality of the lymphatic system	8737	RIPK1	OMIM:618852
HP:0100763	Abnormality of the lymphatic system	9051	PSTPIP1	ORPHA:69126
HP:0100763	Abnormality of the lymphatic system	5696	PSMB8	OMIM:256040
HP:0100763	Abnormality of the lymphatic system	340061	STING1	OMIM:615934
HP:0100763	Abnormality of the lymphatic system	1616	DAXX	ORPHA:100075
HP:0100763	Abnormality of the lymphatic system	6392	SDHD	ORPHA:100093
HP:0100763	Abnormality of the lymphatic system	4860	PNP	OMIM:613179
HP:0100763	Abnormality of the lymphatic system	4609	MYC	ORPHA:543
HP:0100763	Abnormality of the lymphatic system	83706	FERMT3	OMIM:612840
HP:0100763	Abnormality of the lymphatic system	7535	ZAP70	ORPHA:911
HP:0100763	Abnormality of the lymphatic system	2304	FOXE1	ORPHA:319487
HP:0100763	Abnormality of the lymphatic system	3026	HABP2	ORPHA:319487
HP:0100763	Abnormality of the lymphatic system	9562	MINPP1	ORPHA:319487
HP:0100763	Abnormality of the lymphatic system	7852	CXCR4	ORPHA:51636
HP:0100763	Abnormality of the lymphatic system	4615	MYD88	OMIM:612260
HP:0100763	Abnormality of the lymphatic system	3394	IRF8	OMIM:614893
HP:0100763	Abnormality of the lymphatic system	5896	RAG1	ORPHA:331206
HP:0100763	Abnormality of the lymphatic system	5897	RAG2	ORPHA:331206
HP:0100763	Abnormality of the lymphatic system	10616	RBCK1	OMIM:615895
HP:0100763	Abnormality of the lymphatic system	6773	STAT2	OMIM:618886
HP:0100763	Abnormality of the lymphatic system	5880	RAC2	OMIM:618986
HP:0100763	Abnormality of the lymphatic system	3594	IL12RB1	ORPHA:319552
HP:0100763	Abnormality of the lymphatic system	5788	PTPRC	OMIM:619924
HP:0100763	Abnormality of the lymphatic system	958	CD40	OMIM:606843
HP:0100763	Abnormality of the lymphatic system	3431	SP110	OMIM:235550
HP:0100763	Abnormality of the lymphatic system	3431	SP110	ORPHA:79124
HP:0100763	Abnormality of the lymphatic system	1161	ERCC8	OMIM:216400
HP:0100763	Abnormality of the lymphatic system	2324	FLT4	OMIM:153100
HP:0100763	Abnormality of the lymphatic system	6909	TBX2	OMIM:618223
HP:0100763	Abnormality of the lymphatic system	8085	KMT2D	OMIM:620186
HP:0100763	Abnormality of the lymphatic system	4598	MVK	OMIM:610377
HP:0100763	Abnormality of the lymphatic system	7174	TPP2	OMIM:619220
HP:0100763	Abnormality of the lymphatic system	54809	SAMD9	OMIM:617053
HP:0100763	Abnormality of the lymphatic system	55388	MCM10	OMIM:619313
HP:0100763	Abnormality of the lymphatic system	5649	RELN	ORPHA:89844
HP:0100763	Abnormality of the lymphatic system	10300	KATNB1	ORPHA:89844
HP:0100763	Abnormality of the lymphatic system	54820	NDE1	ORPHA:89844
HP:0100763	Abnormality of the lymphatic system	64220	STRA6	OMIM:601186
HP:0100763	Abnormality of the lymphatic system	63901	FAM111A	OMIM:602361
HP:0100763	Abnormality of the lymphatic system	6786	STIM1	OMIM:185070
HP:0100763	Abnormality of the lymphatic system	4773	NFATC2	OMIM:620232
HP:0100763	Abnormality of the lymphatic system	165918	RNF168	ORPHA:420741
HP:0100763	Abnormality of the lymphatic system	93	ACVR2B	OMIM:613751
HP:0100763	Abnormality of the lymphatic system	472	ATM	ORPHA:100
HP:0100763	Abnormality of the lymphatic system	55636	CHD7	OMIM:214800
HP:0100763	Abnormality of the lymphatic system	118429	ANTXR2	ORPHA:2176
HP:0100763	Abnormality of the lymphatic system	204	AK2	ORPHA:33355
HP:0100763	Abnormality of the lymphatic system	199857	ALG14	OMIM:619036
HP:0100763	Abnormality of the lymphatic system	4524	MTHFR	ORPHA:563609
HP:0100763	Abnormality of the lymphatic system	57216	VANGL2	ORPHA:563609
HP:0100763	Abnormality of the lymphatic system	7020	TFAP2A	OMIM:113620
HP:0100763	Abnormality of the lymphatic system	641	BLM	ORPHA:125
HP:0100763	Abnormality of the lymphatic system	6340	SCNN1G	ORPHA:171876
HP:0100763	Abnormality of the lymphatic system	6337	SCNN1A	ORPHA:171876
HP:0100763	Abnormality of the lymphatic system	6338	SCNN1B	ORPHA:171876
HP:0100763	Abnormality of the lymphatic system	219972	MPEG1	OMIM:619223
HP:0100763	Abnormality of the lymphatic system	718	C3	OMIM:613779
HP:0100763	Abnormality of the lymphatic system	3514	IGKC	ORPHA:183675
HP:0100763	Abnormality of the lymphatic system	3501	IGHG2	ORPHA:183675
HP:0100763	Abnormality of the lymphatic system	4644	MYO5A	OMIM:214450
HP:0100763	Abnormality of the lymphatic system	2243	FGA	OMIM:202400
HP:0100763	Abnormality of the lymphatic system	2244	FGB	OMIM:202400
HP:0100763	Abnormality of the lymphatic system	2266	FGG	OMIM:202400
HP:0100763	Abnormality of the lymphatic system	3459	IFNGR1	OMIM:209950
HP:0100763	Abnormality of the lymphatic system	55315	SLC29A3	OMIM:602782
HP:0100763	Abnormality of the lymphatic system	3162	HMOX1	OMIM:614034
HP:0100763	Abnormality of the lymphatic system	50619	DEF6	OMIM:619573
HP:0100763	Abnormality of the lymphatic system	7132	TNFRSF1A	OMIM:142680
HP:0100763	Abnormality of the lymphatic system	10095	ARPC1B	OMIM:617718
HP:0100763	Abnormality of the lymphatic system	1991	ELANE	ORPHA:2686
HP:0100763	Abnormality of the lymphatic system	5915	RARB	ORPHA:2470
HP:0100763	Abnormality of the lymphatic system	374879	ZNF699	OMIM:619488
HP:0100763	Abnormality of the lymphatic system	2934	GSN	ORPHA:85448
HP:0100763	Abnormality of the lymphatic system	169792	GLIS3	OMIM:610199
HP:0100763	Abnormality of the lymphatic system	55503	TRPV6	OMIM:618188
HP:0100763	Abnormality of the lymphatic system	5295	PIK3R1	OMIM:616005
HP:0100763	Abnormality of the lymphatic system	208	AKT2	ORPHA:293964
HP:0100763	Abnormality of the lymphatic system	3425	IDUA	OMIM:607014
HP:0100763	Abnormality of the lymphatic system	3559	IL2RA	OMIM:606367
HP:0100763	Abnormality of the lymphatic system	959	CD40LG	OMIM:308230
HP:0100763	Abnormality of the lymphatic system	760	CA2	ORPHA:2785
HP:0100763	Abnormality of the lymphatic system	100	ADA	ORPHA:277
HP:0100763	Abnormality of the lymphatic system	3561	IL2RG	ORPHA:276
HP:0100763	Abnormality of the lymphatic system	64421	DCLRE1C	OMIM:602450
HP:0100763	Abnormality of the lymphatic system	19	ABCA1	ORPHA:31150
HP:0100763	Abnormality of the lymphatic system	4351	MPI	OMIM:602579
HP:0100763	Abnormality of the lymphatic system	3265	HRAS	OMIM:218040
HP:0100763	Abnormality of the lymphatic system	26040	SETBP1	OMIM:269150
HP:0100763	Abnormality of the lymphatic system	6452	SH3BP2	OMIM:118400
HP:0100763	Abnormality of the lymphatic system	3718	JAK3	OMIM:600802
HP:0100763	Abnormality of the lymphatic system	9620	CELSR1	OMIM:619319
HP:0100763	Abnormality of the lymphatic system	89970	RSPRY1	ORPHA:457395
HP:0100763	Abnormality of the lymphatic system	3423	IDS	ORPHA:217085
HP:0100763	Abnormality of the lymphatic system	3423	IDS	ORPHA:217093
HP:0100763	Abnormality of the lymphatic system	51341	ZBTB7A	OMIM:619769
HP:0100763	Abnormality of the lymphatic system	5728	PTEN	ORPHA:744
HP:0100763	Abnormality of the lymphatic system	207	AKT1	ORPHA:744
HP:0100763	Abnormality of the lymphatic system	4221	MEN1	ORPHA:652
HP:0100763	Abnormality of the lymphatic system	1027	CDKN1B	ORPHA:652
HP:0100763	Abnormality of the lymphatic system	1027	CDKN1B	ORPHA:276152
HP:0100763	Abnormality of the lymphatic system	1026	CDKN1A	ORPHA:652
HP:0100763	Abnormality of the lymphatic system	1031	CDKN2C	ORPHA:652
HP:0100763	Abnormality of the lymphatic system	26191	PTPN22	ORPHA:397
HP:0100763	Abnormality of the lymphatic system	3106	HLA-B	ORPHA:397
HP:0100763	Abnormality of the lymphatic system	3123	HLA-DRB1	ORPHA:397
HP:0100763	Abnormality of the lymphatic system	3123	HLA-DRB1	OMIM:181000
HP:0100763	Abnormality of the lymphatic system	3123	HLA-DRB1	ORPHA:545
HP:0100763	Abnormality of the lymphatic system	8974	P4HA2	ORPHA:397
HP:0100763	Abnormality of the lymphatic system	3115	HLA-DPB1	ORPHA:133
HP:0100763	Abnormality of the lymphatic system	348	APOE	ORPHA:158029
HP:0100763	Abnormality of the lymphatic system	330	BIRC3	ORPHA:52417
HP:0100763	Abnormality of the lymphatic system	10892	MALT1	ORPHA:52417
HP:0100763	Abnormality of the lymphatic system	27086	FOXP1	ORPHA:52417
HP:0100763	Abnormality of the lymphatic system	3492	IGH	ORPHA:52417
HP:0100763	Abnormality of the lymphatic system	3492	IGH	ORPHA:545
HP:0100763	Abnormality of the lymphatic system	8915	BCL10	ORPHA:52417
HP:0100763	Abnormality of the lymphatic system	84061	MAGT1	OMIM:300853
HP:0100763	Abnormality of the lymphatic system	7015	TERT	OMIM:614742
HP:0100763	Abnormality of the lymphatic system	56244	BTNL2	OMIM:612387
HP:0100763	Abnormality of the lymphatic system	596	BCL2	ORPHA:545
HP:0100763	Abnormality of the lymphatic system	604	BCL6	ORPHA:545
HP:0100763	Abnormality of the lymphatic system	440275	EIF2AK4	ORPHA:199241
HP:0100763	Abnormality of the lymphatic system	440275	EIF2AK4	OMIM:234810
HP:0100763	Abnormality of the lymphatic system	2130	EWSR1	ORPHA:83469
HP:0100763	Abnormality of the lymphatic system	7490	WT1	ORPHA:83469
HP:0100763	Abnormality of the lymphatic system	5294	PIK3CG	OMIM:619802
HP:0100763	Abnormality of the lymphatic system	3662	IRF4	ORPHA:3452
HP:0100763	Abnormality of the lymphatic system	10551	AGR2	OMIM:620233
HP:0100763	Abnormality of the lymphatic system	1536	CYBB	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	4688	NCF2	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	1535	CYBA	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	4689	NCF4	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	653361	NCF1	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	79415	CYBC1	ORPHA:379
HP:0100763	Abnormality of the lymphatic system	5290	PIK3CA	ORPHA:276280
HP:0100763	Abnormality of the lymphatic system	998	CDC42	ORPHA:487796
HP:0100763	Abnormality of the lymphatic system	54345	SOX18	ORPHA:69735
HP:0100763	Abnormality of the lymphatic system	2050	EPHB4	ORPHA:137667
HP:0100763	Abnormality of the lymphatic system	8314	BAP1	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	4286	MITF	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	1019	CDK4	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	4255	MGMT	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	54386	TERF2IP	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	4157	MC1R	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	65057	ACD	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	1029	CDKN2A	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	25913	POT1	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	1030	CDKN2B	ORPHA:618
HP:0100763	Abnormality of the lymphatic system	22800	RRAS2	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	8216	LZTR1	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	6016	RIT1	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	6237	RRAS	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	5894	RAF1	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	22808	MRAS	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	3845	KRAS	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	200734	SPRED2	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	4893	NRAS	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	6654	SOS1	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	6655	SOS2	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	5781	PTPN11	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	5922	RASA2	ORPHA:648
HP:0100763	Abnormality of the lymphatic system	7248	TSC1	ORPHA:538
HP:0100763	Abnormality of the lymphatic system	7249	TSC2	ORPHA:538
HP:0100763	Abnormality of the lymphatic system	5605	MAP2K2	ORPHA:638
HP:0100763	Abnormality of the lymphatic system	4763	NF1	ORPHA:638
HP:0100763	Abnormality of the lymphatic system	9508	ADAMTS3	ORPHA:2136
HP:0100763	Abnormality of the lymphatic system	147372	CCBE1	ORPHA:2136
HP:0100763	Abnormality of the lymphatic system	79633	FAT4	ORPHA:2136
HP:0100763	Abnormality of the lymphatic system	80781	COL18A1	ORPHA:1571
HP:0100763	Abnormality of the lymphatic system	5062	PAK2	ORPHA:1571
HP:0100763	Abnormality of the lymphatic system	5745	PTH1R	ORPHA:296
HP:0100763	Abnormality of the lymphatic system	3418	IDH2	ORPHA:296
HP:0100763	Abnormality of the lymphatic system	3417	IDH1	ORPHA:296
HP:0100763	Abnormality of the lymphatic system	3417	IDH1	ORPHA:99646
HP:0100763	Abnormality of the lymphatic system	695	BTK	ORPHA:47
HP:0100763	Abnormality of the lymphatic system	1312	COMT	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	221037	JMJD1C	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	2812	GP1BB	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	6239	RREB1	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	6899	TBX1	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	7290	HIRA	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	9632	SEC24C	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	7353	UFD1	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	421	ARVCF	ORPHA:567
HP:0100763	Abnormality of the lymphatic system	5921	RASA1	ORPHA:90307
HP:0100764	Lymphangioma	207	AKT1	OMIM:176920
HP:0100764	Lymphangioma	207	AKT1	ORPHA:744
HP:0100764	Lymphangioma	9508	ADAMTS3	ORPHA:2136
HP:0100764	Lymphangioma	147372	CCBE1	ORPHA:2136
HP:0100764	Lymphangioma	79633	FAT4	ORPHA:2136
HP:0100764	Lymphangioma	80781	COL18A1	ORPHA:1571
HP:0100764	Lymphangioma	5062	PAK2	ORPHA:1571
HP:0100764	Lymphangioma	5745	PTH1R	ORPHA:296
HP:0100764	Lymphangioma	3418	IDH2	ORPHA:296
HP:0100764	Lymphangioma	3417	IDH1	ORPHA:296
HP:0100764	Lymphangioma	3417	IDH1	ORPHA:99646
HP:0100764	Lymphangioma	5728	PTEN	ORPHA:137608
HP:0100764	Lymphangioma	5728	PTEN	ORPHA:744
HP:0100765	Abnormality of the tonsils	79415	CYBC1	OMIM:618935
HP:0100765	Abnormality of the tonsils	641	BLM	ORPHA:125
HP:0100765	Abnormality of the tonsils	6340	SCNN1G	ORPHA:171876
HP:0100765	Abnormality of the tonsils	6337	SCNN1A	ORPHA:171876
HP:0100765	Abnormality of the tonsils	6338	SCNN1B	ORPHA:171876
HP:0100765	Abnormality of the tonsils	219972	MPEG1	OMIM:619223
HP:0100765	Abnormality of the tonsils	718	C3	OMIM:613779
HP:0100765	Abnormality of the tonsils	8737	RIPK1	OMIM:618852
HP:0100765	Abnormality of the tonsils	3514	IGKC	ORPHA:183675
HP:0100765	Abnormality of the tonsils	3501	IGHG2	ORPHA:183675
HP:0100765	Abnormality of the tonsils	1991	ELANE	ORPHA:2686
HP:0100765	Abnormality of the tonsils	4644	MYO5A	OMIM:214450
HP:0100765	Abnormality of the tonsils	5295	PIK3R1	OMIM:616005
HP:0100765	Abnormality of the tonsils	208	AKT2	ORPHA:293964
HP:0100765	Abnormality of the tonsils	3425	IDUA	OMIM:607014
HP:0100765	Abnormality of the tonsils	3559	IL2RA	OMIM:606367
HP:0100765	Abnormality of the tonsils	959	CD40LG	OMIM:308230
HP:0100765	Abnormality of the tonsils	760	CA2	ORPHA:2785
HP:0100765	Abnormality of the tonsils	100	ADA	ORPHA:277
HP:0100765	Abnormality of the tonsils	3561	IL2RG	ORPHA:276
HP:0100765	Abnormality of the tonsils	64421	DCLRE1C	OMIM:602450
HP:0100765	Abnormality of the tonsils	19	ABCA1	ORPHA:31150
HP:0100765	Abnormality of the tonsils	89970	RSPRY1	ORPHA:457395
HP:0100765	Abnormality of the tonsils	3423	IDS	ORPHA:217085
HP:0100765	Abnormality of the tonsils	3423	IDS	ORPHA:217093
HP:0100765	Abnormality of the tonsils	51341	ZBTB7A	OMIM:619769
HP:0100765	Abnormality of the tonsils	695	BTK	ORPHA:47
HP:0100765	Abnormality of the tonsils	1312	COMT	ORPHA:567
HP:0100765	Abnormality of the tonsils	221037	JMJD1C	ORPHA:567
HP:0100765	Abnormality of the tonsils	2812	GP1BB	ORPHA:567
HP:0100765	Abnormality of the tonsils	6239	RREB1	ORPHA:567
HP:0100765	Abnormality of the tonsils	6899	TBX1	ORPHA:567
HP:0100765	Abnormality of the tonsils	7290	HIRA	ORPHA:567
HP:0100765	Abnormality of the tonsils	9632	SEC24C	ORPHA:567
HP:0100765	Abnormality of the tonsils	7353	UFD1	ORPHA:567
HP:0100765	Abnormality of the tonsils	421	ARVCF	ORPHA:567
HP:0100766	Abnormal lymphatic vessel morphology	9780	PIEZO1	OMIM:616843
HP:0100766	Abnormal lymphatic vessel morphology	79633	FAT4	OMIM:616006
HP:0100766	Abnormal lymphatic vessel morphology	1604	CD55	OMIM:226300
HP:0100766	Abnormal lymphatic vessel morphology	147372	CCBE1	OMIM:235510
HP:0100766	Abnormal lymphatic vessel morphology	2324	FLT4	OMIM:153100
HP:0100766	Abnormal lymphatic vessel morphology	54345	SOX18	OMIM:137940
HP:0100766	Abnormal lymphatic vessel morphology	9508	ADAMTS3	ORPHA:2136
HP:0100766	Abnormal lymphatic vessel morphology	2294	FOXF1	OMIM:265380
HP:0100766	Abnormal lymphatic vessel morphology	7249	TSC2	OMIM:613254
HP:0100766	Abnormal lymphatic vessel morphology	7249	TSC2	ORPHA:805
HP:0100766	Abnormal lymphatic vessel morphology	7249	TSC2	ORPHA:538
HP:0100766	Abnormal lymphatic vessel morphology	7249	TSC2	OMIM:606690
HP:0100766	Abnormal lymphatic vessel morphology	3458	IFNG	OMIM:613254
HP:0100766	Abnormal lymphatic vessel morphology	3458	IFNG	ORPHA:805
HP:0100766	Abnormal lymphatic vessel morphology	7248	TSC1	ORPHA:805
HP:0100766	Abnormal lymphatic vessel morphology	7248	TSC1	OMIM:191100
HP:0100766	Abnormal lymphatic vessel morphology	7248	TSC1	ORPHA:538
HP:0100766	Abnormal lymphatic vessel morphology	7248	TSC1	OMIM:606690
HP:0100766	Abnormal lymphatic vessel morphology	4351	MPI	OMIM:602579
HP:0100766	Abnormal lymphatic vessel morphology	3265	HRAS	OMIM:218040
HP:0100766	Abnormal lymphatic vessel morphology	9620	CELSR1	OMIM:619319
HP:0100766	Abnormal lymphatic vessel morphology	5921	RASA1	ORPHA:90307
HP:0100767	Abnormal placenta morphology	5324	PLAG1	ORPHA:397590
HP:0100767	Abnormal placenta morphology	8091	HMGA2	ORPHA:397590
HP:0100767	Abnormal placenta morphology	3479	IGF1	ORPHA:73272
HP:0100767	Abnormal placenta morphology	4000	LMNA	ORPHA:1662
HP:0100767	Abnormal placenta morphology	4593	MUSK	OMIM:208150
HP:0100767	Abnormal placenta morphology	26227	PHGDH	OMIM:256520
HP:0100767	Abnormal placenta morphology	3930	LBR	OMIM:215140
HP:0100767	Abnormal placenta morphology	388015	RTL1	ORPHA:254534
HP:0100767	Abnormal placenta morphology	388015	RTL1	ORPHA:96334
HP:0100767	Abnormal placenta morphology	388015	RTL1	ORPHA:254528
HP:0100767	Abnormal placenta morphology	8788	DLK1	ORPHA:254534
HP:0100767	Abnormal placenta morphology	8788	DLK1	ORPHA:96334
HP:0100767	Abnormal placenta morphology	8788	DLK1	ORPHA:254528
HP:0100767	Abnormal placenta morphology	55384	MEG3	ORPHA:254534
HP:0100767	Abnormal placenta morphology	55384	MEG3	ORPHA:96334
HP:0100767	Abnormal placenta morphology	55384	MEG3	ORPHA:254528
HP:0100767	Abnormal placenta morphology	54903	MKS1	OMIM:249000
HP:0100767	Abnormal placenta morphology	9652	SKIC3	OMIM:222470
HP:0100767	Abnormal placenta morphology	10269	ZMPSTE24	OMIM:275210
HP:0100767	Abnormal placenta morphology	2188	FANCF	OMIM:603467
HP:0100767	Abnormal placenta morphology	3075	CFH	ORPHA:244242
HP:0100767	Abnormal placenta morphology	3426	CFI	ORPHA:244242
HP:0100767	Abnormal placenta morphology	4179	CD46	ORPHA:244242
HP:0100767	Abnormal placenta morphology	101101692	HELLPAR	ORPHA:244242
HP:0100767	Abnormal placenta morphology	1028	CDKN1C	OMIM:130650
HP:0100767	Abnormal placenta morphology	10984	KCNQ1OT1	OMIM:130650
HP:0100767	Abnormal placenta morphology	3481	IGF2	OMIM:130650
HP:0100767	Abnormal placenta morphology	3784	KCNQ1	OMIM:130650
HP:0100767	Abnormal placenta morphology	3339	HSPG2	ORPHA:1865
HP:0100767	Abnormal placenta morphology	2321	FLT1	ORPHA:275555
HP:0100767	Abnormal placenta morphology	219736	STOX1	ORPHA:275555
HP:0100767	Abnormal placenta morphology	10699	CORIN	ORPHA:275555
HP:0100767	Abnormal placenta morphology	2720	GLB1	ORPHA:79255
HP:0100767	Abnormal placenta morphology	57061	HYMAI	ORPHA:96191
HP:0100767	Abnormal placenta morphology	5325	PLAGL1	ORPHA:96191
HP:0100767	Abnormal placenta morphology	6711	SPTBN1	OMIM:619475
HP:0100767	Abnormal placenta morphology	7157	TP53	OMIM:151623
HP:0100767	Abnormal placenta morphology	7157	TP53	ORPHA:524
HP:0100767	Abnormal placenta morphology	1029	CDKN2A	ORPHA:524
HP:0100767	Abnormal placenta morphology	4193	MDM2	ORPHA:524
HP:0100767	Abnormal placenta morphology	11200	CHEK2	ORPHA:524
HP:0100767	Abnormal placenta morphology	6794	STK11	OMIM:273300
HP:0100767	Abnormal placenta morphology	8915	BCL10	OMIM:273300
HP:0100767	Abnormal placenta morphology	3815	KIT	OMIM:273300
HP:0100767	Abnormal placenta morphology	2261	FGFR3	OMIM:273300
HP:0100768	Choriocarcinoma	7157	TP53	OMIM:151623
HP:0100768	Choriocarcinoma	7157	TP53	ORPHA:524
HP:0100768	Choriocarcinoma	1029	CDKN2A	ORPHA:524
HP:0100768	Choriocarcinoma	4193	MDM2	ORPHA:524
HP:0100768	Choriocarcinoma	11200	CHEK2	ORPHA:524
HP:0100768	Choriocarcinoma	6794	STK11	OMIM:273300
HP:0100768	Choriocarcinoma	8915	BCL10	OMIM:273300
HP:0100768	Choriocarcinoma	3815	KIT	OMIM:273300
HP:0100768	Choriocarcinoma	2261	FGFR3	OMIM:273300
HP:0100769	Synovitis	9663	LPIN2	ORPHA:77297
HP:0100769	Synovitis	6399	TRAPPC2	ORPHA:93284
HP:0100769	Synovitis	6775	STAT4	ORPHA:85408
HP:0100769	Synovitis	3560	IL2RB	ORPHA:85408
HP:0100769	Synovitis	79722	ANKRD55	ORPHA:85408
HP:0100769	Synovitis	26191	PTPN22	ORPHA:85408
HP:0100769	Synovitis	919	CD247	ORPHA:85408
HP:0100769	Synovitis	3559	IL2RA	ORPHA:85408
HP:0100769	Synovitis	5771	PTPN2	ORPHA:85408
HP:0100769	Synovitis	64127	NOD2	OMIM:186580
HP:0100769	Synovitis	64127	NOD2	ORPHA:90340
HP:0100769	Synovitis	2157	F8	ORPHA:169805
HP:0100769	Synovitis	2157	F8	ORPHA:169802
HP:0100769	Synovitis	11128	POLR3A	ORPHA:3455
HP:0100769	Synovitis	5604	MAP2K1	OMIM:163950
HP:0100769	Synovitis	5781	PTPN11	OMIM:163950
HP:0100769	Synovitis	673	BRAF	OMIM:163950
HP:0100769	Synovitis	3373	HYAL1	OMIM:601492
HP:0001012	Multiple lipomas	4558	MT-TF	ORPHA:551
HP:0001012	Multiple lipomas	4567	MT-TL1	ORPHA:551
HP:0001012	Multiple lipomas	4549	MT-RNR1	ORPHA:551
HP:0001012	Multiple lipomas	4574	MT-TS1	ORPHA:551
HP:0001012	Multiple lipomas	4575	MT-TS2	ORPHA:551
HP:0001012	Multiple lipomas	4571	MT-TP	ORPHA:551
HP:0001012	Multiple lipomas	4572	MT-TQ	ORPHA:551
HP:0001012	Multiple lipomas	4540	MT-ND5	ORPHA:551
HP:0001012	Multiple lipomas	4566	MT-TK	ORPHA:551
HP:0001012	Multiple lipomas	4566	MT-TK	ORPHA:1349
HP:0001012	Multiple lipomas	4564	MT-TH	ORPHA:551
HP:0001012	Multiple lipomas	5290	PIK3CA	ORPHA:276280
HP:0001012	Multiple lipomas	4221	MEN1	ORPHA:652
HP:0001012	Multiple lipomas	1027	CDKN1B	ORPHA:652
HP:0001012	Multiple lipomas	1026	CDKN1A	ORPHA:652
HP:0001012	Multiple lipomas	1030	CDKN2B	ORPHA:652
HP:0001012	Multiple lipomas	1031	CDKN2C	ORPHA:652
HP:0001012	Multiple lipomas	55154	MSTO1	OMIM:617675
HP:0001012	Multiple lipomas	161742	SPRED1	OMIM:611431
HP:0001012	Multiple lipomas	161742	SPRED1	ORPHA:137605
HP:0001012	Multiple lipomas	9927	MFN2	ORPHA:2398
HP:0001012	Multiple lipomas	2260	FGFR1	ORPHA:2396
HP:0001012	Multiple lipomas	3845	KRAS	ORPHA:2396
HP:0001012	Multiple lipomas	324	APC	OMIM:175100
HP:0001012	Multiple lipomas	57216	VANGL2	OMIM:182940
HP:0001012	Multiple lipomas	6347	CCL2	OMIM:182940
HP:0001012	Multiple lipomas	81839	VANGL1	OMIM:182940
HP:0001012	Multiple lipomas	6862	TBXT	OMIM:182940
HP:0001012	Multiple lipomas	80199	FUZ	OMIM:182940
HP:0001012	Multiple lipomas	201163	FLCN	ORPHA:122
HP:0001012	Multiple lipomas	201163	FLCN	OMIM:135150
HP:0001012	Multiple lipomas	284252	KCTD1	OMIM:181270
HP:0001012	Multiple lipomas	1175	AP2S1	OMIM:600740
HP:0001012	Multiple lipomas	207	AKT1	OMIM:176920
HP:0001012	Multiple lipomas	2767	GNA11	OMIM:145981
HP:0001012	Multiple lipomas	5167	ENPP1	ORPHA:758
HP:0001012	Multiple lipomas	368	ABCC6	ORPHA:758
HP:0001012	Multiple lipomas	23592	LEMD3	ORPHA:1879
HP:0001012	Multiple lipomas	5728	PTEN	OMIM:158350
HP:0001012	Multiple lipomas	5728	PTEN	ORPHA:2969
HP:0001012	Multiple lipomas	5728	PTEN	ORPHA:79076
HP:0001012	Multiple lipomas	657	BMPR1A	ORPHA:79076
HP:0001012	Multiple lipomas	257	ALX3	OMIM:136760
HP:0001012	Multiple lipomas	257	ALX3	ORPHA:391474
HP:0001012	Multiple lipomas	8092	ALX1	ORPHA:306542
HP:0001012	Multiple lipomas	57688	ZSWIM6	OMIM:603671
HP:0001014	Angiokeratoma	2517	FUCA1	OMIM:230000
HP:0001014	Angiokeratoma	2717	GLA	OMIM:301500
HP:0001014	Angiokeratoma	2717	GLA	ORPHA:324
HP:0001014	Angiokeratoma	4126	MANBA	OMIM:248510
HP:0001014	Angiokeratoma	4668	NAGA	ORPHA:79280
HP:0001014	Angiokeratoma	4668	NAGA	OMIM:609242
HP:0001014	Angiokeratoma	175	AGA	OMIM:208400
HP:0001014	Angiokeratoma	2720	GLB1	OMIM:230500
HP:0001013	Eruptive xanthomas	344	APOC2	OMIM:207750
HP:0001013	Eruptive xanthomas	3990	LIPC	OMIM:614025
HP:0001013	Eruptive xanthomas	3990	LIPC	ORPHA:140905
HP:0001013	Eruptive xanthomas	338328	GPIHBP1	OMIM:615947
HP:0001013	Eruptive xanthomas	4023	LPL	OMIM:238600
HP:0001019	Erythroderma	126410	CYP4F22	OMIM:604777
HP:0001019	Erythroderma	126410	CYP4F22	ORPHA:313
HP:0001019	Erythroderma	7051	TGM1	OMIM:242300
HP:0001019	Erythroderma	7051	TGM1	ORPHA:100976
HP:0001019	Erythroderma	7051	TGM1	ORPHA:79394
HP:0001019	Erythroderma	7051	TGM1	ORPHA:313
HP:0001019	Erythroderma	3858	KRT10	ORPHA:312
HP:0001019	Erythroderma	3858	KRT10	OMIM:609165
HP:0001019	Erythroderma	3848	KRT1	ORPHA:312
HP:0001019	Erythroderma	3848	KRT1	OMIM:113800
HP:0001019	Erythroderma	3815	KIT	ORPHA:280785
HP:0001019	Erythroderma	10043	TOM1	OMIM:619510
HP:0001019	Erythroderma	348938	NIPAL4	OMIM:612281
HP:0001019	Erythroderma	348938	NIPAL4	ORPHA:79394
HP:0001019	Erythroderma	348938	NIPAL4	ORPHA:313
HP:0001019	Erythroderma	9526	MPDU1	OMIM:609180
HP:0001019	Erythroderma	6023	RMRP	ORPHA:39041
HP:0001019	Erythroderma	55636	CHD7	ORPHA:39041
HP:0001019	Erythroderma	3981	LIG4	ORPHA:39041
HP:0001019	Erythroderma	5896	RAG1	ORPHA:39041
HP:0001019	Erythroderma	5896	RAG1	OMIM:603554
HP:0001019	Erythroderma	5897	RAG2	ORPHA:39041
HP:0001019	Erythroderma	5897	RAG2	OMIM:603554
HP:0001019	Erythroderma	64421	DCLRE1C	ORPHA:39041
HP:0001019	Erythroderma	64421	DCLRE1C	OMIM:603554
HP:0001019	Erythroderma	100	ADA	ORPHA:39041
HP:0001019	Erythroderma	3575	IL7R	ORPHA:39041
HP:0001019	Erythroderma	3575	IL7R	ORPHA:169154
HP:0001019	Erythroderma	3561	IL2RG	ORPHA:39041
HP:0001019	Erythroderma	50943	FOXP3	OMIM:304790
HP:0001019	Erythroderma	1041	CDSN	OMIM:270300
HP:0001019	Erythroderma	79092	CARD14	ORPHA:2897
HP:0001019	Erythroderma	5551	PRF1	ORPHA:540
HP:0001019	Erythroderma	8676	STX11	ORPHA:540
HP:0001019	Erythroderma	201294	UNC13D	ORPHA:540
HP:0001019	Erythroderma	6813	STXBP2	ORPHA:540
HP:0001019	Erythroderma	10999	SLC27A4	OMIM:608649
HP:0001019	Erythroderma	2706	GJB2	OMIM:602540
HP:0001019	Erythroderma	51360	MBTPS2	OMIM:308205
HP:0001019	Erythroderma	162	AP1B1	OMIM:242150
HP:0001019	Erythroderma	11005	SPINK5	OMIM:256500
HP:0001019	Erythroderma	11005	SPINK5	ORPHA:634
HP:0001019	Erythroderma	2137	EXTL3	OMIM:617425
HP:0001019	Erythroderma	6785	ELOVL4	OMIM:133190
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:457
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:79394
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:313
HP:0001019	Erythroderma	57609	DIP2B	OMIM:136630
HP:0001019	Erythroderma	1493	CTLA4	ORPHA:3162
HP:0001019	Erythroderma	940	CD28	ORPHA:3162
HP:0001019	Erythroderma	7133	TNFRSF1B	ORPHA:3162
HP:0001019	Erythroderma	915	CD3D	ORPHA:169160
HP:0001019	Erythroderma	916	CD3E	ORPHA:169160
HP:0001019	Erythroderma	919	CD247	ORPHA:169160
HP:0001019	Erythroderma	919	CD247	OMIM:610163
HP:0001019	Erythroderma	4047	LSS	OMIM:618840
HP:0001019	Erythroderma	2707	GJB3	OMIM:133200
HP:0001019	Erythroderma	10616	RBCK1	OMIM:615895
HP:0001019	Erythroderma	6868	ADAM17	OMIM:614328
HP:0001019	Erythroderma	10682	EBP	OMIM:302960
HP:0001019	Erythroderma	10682	EBP	ORPHA:35173
HP:0001019	Erythroderma	204219	CERS3	OMIM:615023
HP:0001019	Erythroderma	204219	CERS3	ORPHA:79394
HP:0001019	Erythroderma	285848	PNPLA1	OMIM:615024
HP:0001019	Erythroderma	285848	PNPLA1	ORPHA:79394
HP:0001019	Erythroderma	242	ALOX12B	ORPHA:79394
HP:0001019	Erythroderma	242	ALOX12B	ORPHA:313
HP:0001019	Erythroderma	59344	ALOXE3	ORPHA:79394
HP:0001019	Erythroderma	59344	ALOXE3	ORPHA:313
HP:0001019	Erythroderma	1828	DSG1	OMIM:615508
HP:0001019	Erythroderma	3559	IL2RA	OMIM:606367
HP:0001019	Erythroderma	151516	ASPRV1	ORPHA:313
HP:0001019	Erythroderma	6820	SULT2B1	ORPHA:313
HP:0001019	Erythroderma	643418	LIPN	ORPHA:313
HP:0001019	Erythroderma	121214	SDR9C7	ORPHA:313
HP:0001019	Erythroderma	404672	GTF2H5	ORPHA:33364
HP:0001019	Erythroderma	833	CARS1	ORPHA:33364
HP:0001019	Erythroderma	2068	ERCC2	ORPHA:33364
HP:0001019	Erythroderma	7737	RNF113A	ORPHA:33364
HP:0001019	Erythroderma	136647	MPLKIP	ORPHA:33364
HP:0001019	Erythroderma	6897	TARS1	ORPHA:33364
HP:0001019	Erythroderma	2071	ERCC3	ORPHA:33364
HP:0001019	Erythroderma	2961	GTF2E2	ORPHA:33364
HP:0007517	Palmoplantar cutis laxa	715	C1R	OMIM:130080
HP:0007517	Palmoplantar cutis laxa	2261	FGFR3	OMIM:616482
HP:0007517	Palmoplantar cutis laxa	22808	MRAS	OMIM:618499
HP:0007517	Palmoplantar cutis laxa	5351	PLOD1	OMIM:225400
HP:0007517	Palmoplantar cutis laxa	8216	LZTR1	OMIM:616564
HP:0007517	Palmoplantar cutis laxa	8216	LZTR1	OMIM:605275
HP:0007517	Palmoplantar cutis laxa	84627	ZNF469	OMIM:229200
HP:0007517	Palmoplantar cutis laxa	6016	RIT1	OMIM:615355
HP:0007517	Palmoplantar cutis laxa	2263	FGFR2	OMIM:123790
HP:0007517	Palmoplantar cutis laxa	23545	ATP6V0A2	OMIM:278250
HP:0001015	Prominent superficial veins	5295	PIK3R1	OMIM:269880
HP:0001015	Prominent superficial veins	10269	ZMPSTE24	OMIM:608612
HP:0001015	Prominent superficial veins	716	C1S	OMIM:617174
HP:0001015	Prominent superficial veins	29957	SLC25A24	OMIM:612289
HP:0001015	Prominent superficial veins	92579	G6PC3	OMIM:612541
HP:0001015	Prominent superficial veins	8815	BANF1	OMIM:614008
HP:0001015	Prominent superficial veins	5831	PYCR1	OMIM:612940
HP:0001015	Prominent superficial veins	5831	PYCR1	OMIM:614438
HP:0001015	Prominent superficial veins	10555	AGPAT2	ORPHA:528
HP:0001015	Prominent superficial veins	284119	CAVIN1	ORPHA:528
HP:0001015	Prominent superficial veins	26580	BSCL2	ORPHA:528
HP:0001015	Prominent superficial veins	2353	FOS	ORPHA:528
HP:0001015	Prominent superficial veins	857	CAV1	ORPHA:528
HP:0001015	Prominent superficial veins	25839	COG4	OMIM:618150
HP:0001015	Prominent superficial veins	715	C1R	OMIM:130080
HP:0001015	Prominent superficial veins	221496	LEMD2	OMIM:619322
HP:0001015	Prominent superficial veins	5159	PDGFRB	OMIM:601812
HP:0001015	Prominent superficial veins	2324	FLT4	OMIM:153100
HP:0001015	Prominent superficial veins	4000	LMNA	OMIM:151660
HP:0001015	Prominent superficial veins	4000	LMNA	ORPHA:79474
HP:0001015	Prominent superficial veins	91252	SLC39A13	OMIM:612350
HP:0001015	Prominent superficial veins	84919	PPP1R15B	OMIM:616817
HP:0001015	Prominent superficial veins	7424	VEGFC	OMIM:615907
HP:0001015	Prominent superficial veins	84168	ANTXR1	OMIM:230740
HP:0001015	Prominent superficial veins	9791	PTDSS1	OMIM:151050
HP:0001015	Prominent superficial veins	11128	POLR3A	OMIM:264090
HP:0001015	Prominent superficial veins	11128	POLR3A	ORPHA:3455
HP:0001015	Prominent superficial veins	23545	ATP6V0A2	ORPHA:2834
HP:0001015	Prominent superficial veins	23545	ATP6V0A2	ORPHA:357074
HP:0001015	Prominent superficial veins	5468	PPARG	ORPHA:79083
HP:0001015	Prominent superficial veins	165	AEBP1	ORPHA:536532
HP:0001015	Prominent superficial veins	523	ATP6V1A	ORPHA:357074
HP:0001015	Prominent superficial veins	529	ATP6V1E1	ORPHA:357074
HP:0001015	Prominent superficial veins	2859	GPR35	ORPHA:171
HP:0001015	Prominent superficial veins	10507	SEMA4D	ORPHA:171
HP:0001015	Prominent superficial veins	4485	MST1	ORPHA:171
HP:0001015	Prominent superficial veins	6925	TCF4	ORPHA:171
HP:0001018	Abnormal palmar dermatoglyphics	23394	ADNP	ORPHA:404448
HP:0001018	Abnormal palmar dermatoglyphics	324	APC	ORPHA:261584
HP:0001018	Abnormal palmar dermatoglyphics	340533	NEXMIF	OMIM:300912
HP:0001018	Abnormal palmar dermatoglyphics	8294	H4C9	OMIM:619951
HP:0001018	Abnormal palmar dermatoglyphics	83932	SPRTN	OMIM:616200
HP:0001018	Abnormal palmar dermatoglyphics	8425	LTBP4	OMIM:613177
HP:0001018	Abnormal palmar dermatoglyphics	51126	NAA20	OMIM:619717
HP:0001018	Abnormal palmar dermatoglyphics	2972	BRF1	OMIM:616202
HP:0001018	Abnormal palmar dermatoglyphics	2972	BRF1	ORPHA:444072
HP:0001018	Abnormal palmar dermatoglyphics	6228	RPS23	OMIM:617412
HP:0001018	Abnormal palmar dermatoglyphics	5885	RAD21	OMIM:614701
HP:0001018	Abnormal palmar dermatoglyphics	55627	SMPD4	OMIM:618622
HP:0001018	Abnormal palmar dermatoglyphics	81857	MED25	OMIM:616449
HP:0001018	Abnormal palmar dermatoglyphics	81857	MED25	ORPHA:464738
HP:0001018	Abnormal palmar dermatoglyphics	123263	MTFMT	OMIM:614947
HP:0001018	Abnormal palmar dermatoglyphics	10274	STAG1	ORPHA:502434
HP:0001018	Abnormal palmar dermatoglyphics	56916	SMARCAD1	OMIM:129200
HP:0001018	Abnormal palmar dermatoglyphics	5830	PEX5	OMIM:214110
HP:0001018	Abnormal palmar dermatoglyphics	197131	UBR1	OMIM:243800
HP:0001018	Abnormal palmar dermatoglyphics	9578	CDC42BPB	OMIM:619841
HP:0001018	Abnormal palmar dermatoglyphics	3020	H3-3A	OMIM:619720
HP:0001018	Abnormal palmar dermatoglyphics	10300	KATNB1	OMIM:616212
HP:0001018	Abnormal palmar dermatoglyphics	89910	UBE3B	OMIM:244450
HP:0001018	Abnormal palmar dermatoglyphics	51506	UFC1	OMIM:618076
HP:0001018	Abnormal palmar dermatoglyphics	55790	CSGALNACT1	OMIM:618870
HP:0001018	Abnormal palmar dermatoglyphics	4010	LMX1B	ORPHA:495818
HP:0001018	Abnormal palmar dermatoglyphics	6812	STXBP1	ORPHA:495818
HP:0001018	Abnormal palmar dermatoglyphics	2137	EXTL3	OMIM:617425
HP:0001018	Abnormal palmar dermatoglyphics	22858	CILK1	OMIM:612651
HP:0001018	Abnormal palmar dermatoglyphics	9382	COG1	OMIM:611209
HP:0001018	Abnormal palmar dermatoglyphics	5189	PEX1	OMIM:214100
HP:0001018	Abnormal palmar dermatoglyphics	6197	RPS6KA3	OMIM:303600
HP:0001018	Abnormal palmar dermatoglyphics	84987	COX14	OMIM:619053
HP:0001018	Abnormal palmar dermatoglyphics	57492	ARID1B	OMIM:135900
HP:0001018	Abnormal palmar dermatoglyphics	54453	RIN2	OMIM:613075
HP:0001018	Abnormal palmar dermatoglyphics	3899	AFF3	OMIM:619297
HP:0001018	Abnormal palmar dermatoglyphics	50814	NSDHL	OMIM:308050
HP:0001018	Abnormal palmar dermatoglyphics	9968	MED12	ORPHA:93932
HP:0001018	Abnormal palmar dermatoglyphics	9968	MED12	OMIM:305450
HP:0001018	Abnormal palmar dermatoglyphics	92579	G6PC3	OMIM:612541
HP:0001018	Abnormal palmar dermatoglyphics	114034	TOE1	OMIM:614969
HP:0001018	Abnormal palmar dermatoglyphics	157680	VPS13B	OMIM:216550
HP:0001018	Abnormal palmar dermatoglyphics	7020	TFAP2A	OMIM:113620
HP:0001018	Abnormal palmar dermatoglyphics	9896	FIG4	ORPHA:3472
HP:0001018	Abnormal palmar dermatoglyphics	9896	FIG4	OMIM:216340
HP:0001018	Abnormal palmar dermatoglyphics	55697	VAC14	ORPHA:3472
HP:0001018	Abnormal palmar dermatoglyphics	652	BMP4	OMIM:607932
HP:0001018	Abnormal palmar dermatoglyphics	5442	POLRMT	OMIM:619743
HP:0001018	Abnormal palmar dermatoglyphics	132158	GLYCTK	OMIM:220120
HP:0001018	Abnormal palmar dermatoglyphics	23036	ZNF292	OMIM:619188
HP:0001018	Abnormal palmar dermatoglyphics	55148	UBR7	OMIM:619189
HP:0001018	Abnormal palmar dermatoglyphics	4591	TRIM37	OMIM:253250
HP:0001018	Abnormal palmar dermatoglyphics	79813	EHMT1	OMIM:610253
HP:0001018	Abnormal palmar dermatoglyphics	55012	PPP2R3C	OMIM:618419
HP:0001018	Abnormal palmar dermatoglyphics	1954	MEGF8	OMIM:614976
HP:0001018	Abnormal palmar dermatoglyphics	2783	GNB2	OMIM:619503
HP:0001018	Abnormal palmar dermatoglyphics	53834	FGFRL1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	1487	CTBP1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	3954	LETM1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	7468	NSD2	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	10815	CPLX1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	26040	SETBP1	OMIM:269150
HP:0001018	Abnormal palmar dermatoglyphics	727857	BHLHA9	OMIM:609432
HP:0001018	Abnormal palmar dermatoglyphics	1802	DPH2	OMIM:620062
HP:0001018	Abnormal palmar dermatoglyphics	11285	B4GALT7	OMIM:130070
HP:0001018	Abnormal palmar dermatoglyphics	1186	CLCN7	OMIM:618541
HP:0001018	Abnormal palmar dermatoglyphics	55768	NGLY1	OMIM:615273
HP:0001018	Abnormal palmar dermatoglyphics	1349	COX7B	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	3052	HCCS	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	54539	NDUFB11	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	5190	PEX6	OMIM:614863
HP:0001018	Abnormal palmar dermatoglyphics	5828	PEX2	OMIM:614866
HP:0001018	Abnormal palmar dermatoglyphics	150468	CKAP2L	OMIM:272440
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	ORPHA:459070
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	OMIM:300998
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	ORPHA:435938
HP:0001018	Abnormal palmar dermatoglyphics	55165	CEP55	OMIM:236500
HP:0001018	Abnormal palmar dermatoglyphics	8085	KMT2D	OMIM:620186
HP:0001018	Abnormal palmar dermatoglyphics	23137	SMC5	OMIM:620185
HP:0001018	Abnormal palmar dermatoglyphics	27086	FOXP1	ORPHA:391372
HP:0001018	Abnormal palmar dermatoglyphics	388015	RTL1	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	388015	RTL1	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	8788	DLK1	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	8788	DLK1	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	55384	MEG3	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	55384	MEG3	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	6925	TCF4	OMIM:610954
HP:0001018	Abnormal palmar dermatoglyphics	6925	TCF4	ORPHA:2896
HP:0001018	Abnormal palmar dermatoglyphics	10430	TMEM147	OMIM:620075
HP:0001018	Abnormal palmar dermatoglyphics	23483	TGDS	OMIM:616145
HP:0001018	Abnormal palmar dermatoglyphics	6611	SMS	OMIM:309583
HP:0001018	Abnormal palmar dermatoglyphics	25836	NIPBL	OMIM:122470
HP:0001018	Abnormal palmar dermatoglyphics	23219	FBXO28	OMIM:619777
HP:0001018	Abnormal palmar dermatoglyphics	2146	EZH2	OMIM:277590
HP:0001018	Abnormal palmar dermatoglyphics	2316	FLNA	ORPHA:1826
HP:0001018	Abnormal palmar dermatoglyphics	6885	MAP3K7	ORPHA:1826
HP:0001018	Abnormal palmar dermatoglyphics	51322	WAC	ORPHA:466950
HP:0001018	Abnormal palmar dermatoglyphics	6595	SMARCA2	OMIM:601358
HP:0001018	Abnormal palmar dermatoglyphics	29123	ANKRD11	OMIM:148050
HP:0001018	Abnormal palmar dermatoglyphics	29123	ANKRD11	ORPHA:2332
HP:0001018	Abnormal palmar dermatoglyphics	2702	GJA5	OMIM:612474
HP:0001018	Abnormal palmar dermatoglyphics	2703	GJA8	OMIM:612474
HP:0001018	Abnormal palmar dermatoglyphics	4208	MEF2C	OMIM:613443
HP:0001018	Abnormal palmar dermatoglyphics	55690	PACS1	ORPHA:329224
HP:0001018	Abnormal palmar dermatoglyphics	6878	TAF6	OMIM:617126
HP:0001018	Abnormal palmar dermatoglyphics	22907	DHX30	OMIM:617804
HP:0001018	Abnormal palmar dermatoglyphics	2245	FGD1	ORPHA:915
HP:0001018	Abnormal palmar dermatoglyphics	2245	FGD1	OMIM:305400
HP:0001018	Abnormal palmar dermatoglyphics	10664	CTCF	OMIM:615502
HP:0001018	Abnormal palmar dermatoglyphics	10664	CTCF	ORPHA:363611
HP:0001018	Abnormal palmar dermatoglyphics	81603	TRIM8	OMIM:619428
HP:0001018	Abnormal palmar dermatoglyphics	9230	RAB11B	OMIM:617807
HP:0001018	Abnormal palmar dermatoglyphics	55081	IFT57	OMIM:617927
HP:0001018	Abnormal palmar dermatoglyphics	3720	JARID2	OMIM:620098
HP:0001018	Abnormal palmar dermatoglyphics	3479	IGF1	ORPHA:73272
HP:0001018	Abnormal palmar dermatoglyphics	5193	PEX12	OMIM:266510
HP:0001018	Abnormal palmar dermatoglyphics	100151683	RNU4ATAC	OMIM:210710
HP:0001018	Abnormal palmar dermatoglyphics	100151683	RNU4ATAC	OMIM:616651
HP:0001018	Abnormal palmar dermatoglyphics	1798	DPAGT1	OMIM:608093
HP:0001018	Abnormal palmar dermatoglyphics	57122	NUP107	OMIM:618348
HP:0001018	Abnormal palmar dermatoglyphics	6418	SET	OMIM:618106
HP:0001018	Abnormal palmar dermatoglyphics	5515	PPP2CA	OMIM:618354
HP:0001018	Abnormal palmar dermatoglyphics	2623	GATA1	OMIM:190685
HP:0001018	Abnormal palmar dermatoglyphics	23030	KDM4B	OMIM:619320
HP:0001018	Abnormal palmar dermatoglyphics	2902	GRIN1	OMIM:617820
HP:0001018	Abnormal palmar dermatoglyphics	55784	MCTP2	ORPHA:1596
HP:0001018	Abnormal palmar dermatoglyphics	23097	CDK19	OMIM:618916
HP:0001018	Abnormal palmar dermatoglyphics	9126	SMC3	OMIM:610759
HP:0001018	Abnormal palmar dermatoglyphics	4131	MAP1B	OMIM:618918
HP:0001018	Abnormal palmar dermatoglyphics	5530	PPP3CA	OMIM:617711
HP:0001018	Abnormal palmar dermatoglyphics	80746	TSEN2	OMIM:612389
HP:0001018	Abnormal palmar dermatoglyphics	64131	XYLT1	OMIM:615777
HP:0001018	Abnormal palmar dermatoglyphics	9361	LONP1	ORPHA:79243
HP:0001018	Abnormal palmar dermatoglyphics	5160	PDHA1	ORPHA:79243
HP:0001018	Abnormal palmar dermatoglyphics	55764	IFT122	OMIM:218330
HP:0001018	Abnormal palmar dermatoglyphics	8604	SLC25A12	OMIM:612949
HP:0001018	Abnormal palmar dermatoglyphics	9241	NOG	OMIM:186500
HP:0001018	Abnormal palmar dermatoglyphics	22827	PUF60	ORPHA:508488
HP:0001018	Abnormal palmar dermatoglyphics	10943	MSL3	OMIM:301032
HP:0001018	Abnormal palmar dermatoglyphics	3977	LIFR	OMIM:601559
HP:0001018	Abnormal palmar dermatoglyphics	545	ATR	OMIM:210600
HP:0001018	Abnormal palmar dermatoglyphics	57187	THOC2	ORPHA:457240
HP:0001018	Abnormal palmar dermatoglyphics	57572	DOCK6	OMIM:614219
HP:0001018	Abnormal palmar dermatoglyphics	94005	PIGS	OMIM:618143
HP:0001018	Abnormal palmar dermatoglyphics	145173	B3GLCT	OMIM:261540
HP:0001018	Abnormal palmar dermatoglyphics	6711	SPTBN1	OMIM:619475
HP:0001018	Abnormal palmar dermatoglyphics	6938	TCF12	OMIM:615314
HP:0001018	Abnormal palmar dermatoglyphics	92002	CCNQ	OMIM:300707
HP:0001018	Abnormal palmar dermatoglyphics	91461	PKDCC	OMIM:618821
HP:0001018	Abnormal palmar dermatoglyphics	4329	ALDH6A1	OMIM:614105
HP:0001018	Abnormal palmar dermatoglyphics	1457	CSNK2A1	OMIM:617062
HP:0001018	Abnormal palmar dermatoglyphics	7204	TRIO	OMIM:617061
HP:0001018	Abnormal palmar dermatoglyphics	55617	TASP1	OMIM:618950
HP:0001018	Abnormal palmar dermatoglyphics	51305	KCNK9	OMIM:612292
HP:0001018	Abnormal palmar dermatoglyphics	83737	ITCH	OMIM:613385
HP:0001018	Abnormal palmar dermatoglyphics	112752	IFT43	OMIM:617866
HP:0001018	Abnormal palmar dermatoglyphics	9702	CEP57	OMIM:614114
HP:0001018	Abnormal palmar dermatoglyphics	9373	PLAA	ORPHA:521426
HP:0001018	Abnormal palmar dermatoglyphics	9373	PLAA	OMIM:617527
HP:0001018	Abnormal palmar dermatoglyphics	64093	SMOC1	OMIM:206920
HP:0001018	Abnormal palmar dermatoglyphics	7169	TPM2	OMIM:108120
HP:0001018	Abnormal palmar dermatoglyphics	403	ARL3	OMIM:618161
HP:0001018	Abnormal palmar dermatoglyphics	8200	GDF5	OMIM:201250
HP:0001018	Abnormal palmar dermatoglyphics	1748	DLX4	OMIM:616788
HP:0001018	Abnormal palmar dermatoglyphics	1663	DDX11	OMIM:613398
HP:0001018	Abnormal palmar dermatoglyphics	2733	GLE1	OMIM:611890
HP:0001018	Abnormal palmar dermatoglyphics	738	VPS51	OMIM:618606
HP:0001018	Abnormal palmar dermatoglyphics	51594	NBAS	OMIM:614800
HP:0001018	Abnormal palmar dermatoglyphics	23299	BICD2	OMIM:618291
HP:0001018	Abnormal palmar dermatoglyphics	58499	ZNF462	OMIM:618619
HP:0001018	Abnormal palmar dermatoglyphics	7298	TYMS	OMIM:620040
HP:0001018	Abnormal palmar dermatoglyphics	55636	CHD7	OMIM:214800
HP:0001018	Abnormal palmar dermatoglyphics	8260	NAA10	OMIM:309800
HP:0001018	Abnormal palmar dermatoglyphics	54880	BCOR	OMIM:309800
HP:0001018	Abnormal palmar dermatoglyphics	64840	PORCN	ORPHA:2092
HP:0001018	Abnormal palmar dermatoglyphics	1387	CREBBP	OMIM:180849
HP:0001018	Abnormal palmar dermatoglyphics	2033	EP300	OMIM:180849
HP:0001018	Abnormal palmar dermatoglyphics	113189	CHST14	ORPHA:2953
HP:0001018	Abnormal palmar dermatoglyphics	29940	DSE	ORPHA:2953
HP:0001018	Abnormal palmar dermatoglyphics	26053	AUTS2	OMIM:615834
HP:0001018	Abnormal palmar dermatoglyphics	26053	AUTS2	ORPHA:352490
HP:0001018	Abnormal palmar dermatoglyphics	8985	PLOD3	OMIM:612394
HP:0001018	Abnormal palmar dermatoglyphics	55252	ASXL2	OMIM:617190
HP:0001018	Abnormal palmar dermatoglyphics	8036	SHOC2	OMIM:607721
HP:0001018	Abnormal palmar dermatoglyphics	65082	VPS33A	ORPHA:505248
HP:0001018	Abnormal palmar dermatoglyphics	3190	HNRNPK	OMIM:616580
HP:0001018	Abnormal palmar dermatoglyphics	4052	LTBP1	OMIM:619451
HP:0001018	Abnormal palmar dermatoglyphics	8558	CDK10	OMIM:617694
HP:0001018	Abnormal palmar dermatoglyphics	57479	PRR12	OMIM:619539
HP:0001018	Abnormal palmar dermatoglyphics	23545	ATP6V0A2	ORPHA:2834
HP:0001018	Abnormal palmar dermatoglyphics	23545	ATP6V0A2	OMIM:278250
HP:0001018	Abnormal palmar dermatoglyphics	29957	SLC25A24	OMIM:612289
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	OMIM:115150
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	OMIM:613706
HP:0001018	Abnormal palmar dermatoglyphics	5604	MAP2K1	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	5605	MAP2K2	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	3845	KRAS	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	83550	GPR101	ORPHA:963
HP:0001018	Abnormal palmar dermatoglyphics	9049	AIP	ORPHA:963
HP:0001018	Abnormal palmar dermatoglyphics	23384	SPECC1L	OMIM:600251
HP:0001018	Abnormal palmar dermatoglyphics	55593	OTUD5	OMIM:301056
HP:0001018	Abnormal palmar dermatoglyphics	283209	PGM2L1	OMIM:620191
HP:0001018	Abnormal palmar dermatoglyphics	79718	TBL1XR1	OMIM:602342
HP:0001018	Abnormal palmar dermatoglyphics	79718	TBL1XR1	ORPHA:487825
HP:0001018	Abnormal palmar dermatoglyphics	171023	ASXL1	OMIM:605039
HP:0001018	Abnormal palmar dermatoglyphics	10651	MTX2	OMIM:619127
HP:0001018	Abnormal palmar dermatoglyphics	80816	ASXL3	OMIM:615485
HP:0001018	Abnormal palmar dermatoglyphics	1806	DPYD	ORPHA:1675
HP:0001018	Abnormal palmar dermatoglyphics	2475	MTOR	OMIM:616638
HP:0001018	Abnormal palmar dermatoglyphics	200734	SPRED2	OMIM:619745
HP:0001018	Abnormal palmar dermatoglyphics	526	ATP6V1B2	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3756	KCNH1	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3782	KCNN3	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3265	HRAS	OMIM:218040
HP:0001018	Abnormal palmar dermatoglyphics	8241	RBM10	OMIM:311900
HP:0001018	Abnormal palmar dermatoglyphics	7291	TWIST1	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	2263	FGFR2	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	2261	FGFR3	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	23476	BRD4	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	8243	SMC1A	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	55869	HDAC8	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	5792	PTPRF	OMIM:616001
HP:0001018	Abnormal palmar dermatoglyphics	10908	PNPLA6	ORPHA:2377
HP:0001018	Abnormal palmar dermatoglyphics	9894	TELO2	ORPHA:488642
HP:0001018	Abnormal palmar dermatoglyphics	9759	HDAC4	ORPHA:1001
HP:0001018	Abnormal palmar dermatoglyphics	157570	ESCO2	ORPHA:3103
HP:0001018	Abnormal palmar dermatoglyphics	5184	PEPD	ORPHA:742
HP:0001018	Abnormal palmar dermatoglyphics	2131	EXT1	ORPHA:502
HP:0001018	Abnormal palmar dermatoglyphics	7227	TRPS1	ORPHA:502
HP:0001018	Abnormal palmar dermatoglyphics	283989	TSEN54	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	116461	TSEN15	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	79042	TSEN34	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	51091	SEPSECS	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	129563	DIS3L2	ORPHA:2849
HP:0001018	Abnormal palmar dermatoglyphics	5818	NECTIN1	ORPHA:3253
HP:0001018	Abnormal palmar dermatoglyphics	55670	PEX26	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5824	PEX19	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	8504	PEX3	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	9409	PEX16	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	8799	PEX11B	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5194	PEX13	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5195	PEX14	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5192	PEX10	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	9469	CHST3	OMIM:143095
HP:0001018	Abnormal palmar dermatoglyphics	7140	TNNT3	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	7136	TNNI2	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	23511	NUP188	OMIM:618804
HP:0001018	Abnormal palmar dermatoglyphics	658	BMPR1B	ORPHA:2639
HP:0001018	Abnormal palmar dermatoglyphics	4087	SMAD2	OMIM:619657
HP:0001018	Abnormal palmar dermatoglyphics	64359	NXN	ORPHA:1507
HP:0001018	Abnormal palmar dermatoglyphics	4920	ROR2	ORPHA:1507
HP:0001018	Abnormal palmar dermatoglyphics	10225	CD96	ORPHA:1308
HP:0001018	Abnormal palmar dermatoglyphics	23522	KAT6B	ORPHA:3047
HP:0001018	Abnormal palmar dermatoglyphics	147372	CCBE1	OMIM:235510
HP:0001018	Abnormal palmar dermatoglyphics	9496	TBX4	ORPHA:261279
HP:0001018	Abnormal palmar dermatoglyphics	1801	DPH1	ORPHA:459061
HP:0001018	Abnormal palmar dermatoglyphics	2254	FGF9	ORPHA:3237
HP:0001018	Abnormal palmar dermatoglyphics	4927	NUP88	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	7846	TUBA1A	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	4654	MYOD1	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	4593	MUSK	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	5913	RAPSN	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	6572	SLC18A3	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	285489	DOK7	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	91252	SLC39A13	ORPHA:157965
HP:0001018	Abnormal palmar dermatoglyphics	63895	PIEZO2	ORPHA:1154
HP:0001018	Abnormal palmar dermatoglyphics	4621	MYH3	ORPHA:2053
HP:0001018	Abnormal palmar dermatoglyphics	259232	NALCN	ORPHA:2053
HP:0001018	Abnormal palmar dermatoglyphics	54101	RIPK4	OMIM:263650
HP:0001018	Abnormal palmar dermatoglyphics	92949	ADAMTSL1	ORPHA:521445
HP:0001018	Abnormal palmar dermatoglyphics	22884	WDR37	OMIM:618652
HP:0001018	Abnormal palmar dermatoglyphics	7750	ZMYM2	OMIM:619522
HP:0001018	Abnormal palmar dermatoglyphics	7528	YY1	ORPHA:506358
HP:0001017	Anemic pallor	657	BMPR1A	ORPHA:329971
HP:0001017	Anemic pallor	4089	SMAD4	ORPHA:329971
HP:0001017	Anemic pallor	2022	ENG	ORPHA:329971
HP:0001017	Anemic pallor	212	ALAS2	OMIM:300751
HP:0001017	Anemic pallor	2177	FANCD2	OMIM:227646
HP:0001017	Anemic pallor	2176	FANCC	OMIM:227645
HP:0001017	Anemic pallor	2178	FANCE	OMIM:600901
HP:0001017	Anemic pallor	2175	FANCA	OMIM:227650
HP:0011236	Angulated antihelix	23511	NUP188	OMIM:618804
HP:0011235	Additional crus of antihelix	79005	SCNM1	OMIM:620107
HP:0011235	Additional crus of antihelix	6299	SALL1	OMIM:107480
HP:0011235	Additional crus of antihelix	6567	SLC16A2	OMIM:300523
HP:0011234	Absent antihelix	6134	RPL10	OMIM:300998
HP:0011238	Prominent inferior crus of antihelix	1387	CREBBP	OMIM:618332
HP:0011232	Infra-orbital fold	8565	YARS1	OMIM:619418
HP:0011232	Infra-orbital fold	9653	HS2ST1	OMIM:619194
HP:0011232	Infra-orbital fold	54453	RIN2	ORPHA:217335
HP:0011231	Prominent eyelashes	6597	SMARCA4	ORPHA:1465
HP:0011231	Prominent eyelashes	6598	SMARCB1	ORPHA:1465
HP:0011231	Prominent eyelashes	6659	SOX4	ORPHA:1465
HP:0011231	Prominent eyelashes	8289	ARID1A	ORPHA:1465
HP:0011231	Prominent eyelashes	5977	DPF2	ORPHA:1465
HP:0011231	Prominent eyelashes	6601	SMARCC2	ORPHA:1465
HP:0011231	Prominent eyelashes	6602	SMARCD1	ORPHA:1465
HP:0011231	Prominent eyelashes	57492	ARID1B	ORPHA:1465
HP:0011231	Prominent eyelashes	196528	ARID2	ORPHA:1465
HP:0011231	Prominent eyelashes	6605	SMARCE1	ORPHA:1465
HP:0011231	Prominent eyelashes	6664	SOX11	ORPHA:1465
HP:0011231	Prominent eyelashes	100151683	RNU4ATAC	ORPHA:353298
HP:0011231	Prominent eyelashes	100151683	RNU4ATAC	OMIM:616651
HP:0011231	Prominent eyelashes	4001	LMNB1	OMIM:619179
HP:0011231	Prominent eyelashes	29920	PYCR2	OMIM:616420
HP:0011231	Prominent eyelashes	8085	KMT2D	OMIM:147920
HP:0011231	Prominent eyelashes	7403	KDM6A	OMIM:147920
HP:0011230	Laterally extended eyebrow	23511	NUP188	OMIM:618804
HP:0011230	Laterally extended eyebrow	4081	MAB21L1	OMIM:618479
HP:0011230	Laterally extended eyebrow	4212	MEIS2	OMIM:600987
HP:0011230	Laterally extended eyebrow	9126	SMC3	OMIM:610759
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	242	ALOX12B	OMIM:242100
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	59344	ALOXE3	OMIM:242100
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	59344	ALOXE3	OMIM:606545
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	126410	CYP4F22	OMIM:604777
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	7051	TGM1	OMIM:242300
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	7051	TGM1	ORPHA:100976
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6820	SULT2B1	OMIM:617571
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	348938	NIPAL4	OMIM:612281
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2629	GBA1	ORPHA:85212
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2629	GBA1	OMIM:608013
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51099	ABHD5	ORPHA:98907
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51099	ABHD5	OMIM:275630
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6897	TARS1	OMIM:618546
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3858	KRT10	OMIM:609165
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	26154	ABCA12	OMIM:601277
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	10682	EBP	OMIM:302960
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51371	POMP	OMIM:601952
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2071	ERCC3	OMIM:616390
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2068	ERCC2	OMIM:601675
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	404672	GTF2H5	OMIM:616395
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	204219	CERS3	OMIM:615023
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	285848	PNPLA1	OMIM:615024
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	11005	SPINK5	OMIM:256500
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	11005	SPINK5	ORPHA:634
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	151516	ASPRV1	OMIM:146750
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6785	ELOVL4	OMIM:614457
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2531	KDSR	OMIM:617526
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	4014	LORICRIN	ORPHA:79395
HP:0100771	Hypoperistalsis	54809	SAMD9	OMIM:617053
HP:0100771	Hypoperistalsis	2982	GUCY1A1	OMIM:615750
HP:0100771	Hypoperistalsis	55699	IARS2	OMIM:616007
HP:0100771	Hypoperistalsis	55699	IARS2	ORPHA:436174
HP:0100771	Hypoperistalsis	6774	STAT3	OMIM:615952
HP:0100771	Hypoperistalsis	10625	IVNS1ABP	OMIM:618969
HP:0100771	Hypoperistalsis	29926	GMPPA	OMIM:615510
HP:0100771	Hypoperistalsis	29926	GMPPA	ORPHA:869
HP:0100771	Hypoperistalsis	60684	TRAPPC11	OMIM:615356
HP:0100771	Hypoperistalsis	60684	TRAPPC11	ORPHA:869
HP:0100771	Hypoperistalsis	8086	AAAS	ORPHA:869
HP:0100771	Hypoperistalsis	8086	AAAS	OMIM:231550
HP:0100771	Hypoperistalsis	2717	GLA	ORPHA:324
HP:0100771	Hypoperistalsis	60	ACTB	ORPHA:79107
HP:0100771	Hypoperistalsis	60	ACTB	OMIM:607371
HP:0100771	Hypoperistalsis	4212	MEIS2	OMIM:600987
HP:0100771	Hypoperistalsis	28982	FLVCR1	OMIM:609033
HP:0100771	Hypoperistalsis	1288	COL4A6	ORPHA:1018
HP:0100771	Hypoperistalsis	1287	COL4A5	ORPHA:1018
HP:0100771	Hypoperistalsis	283446	MYO1H	OMIM:619482
HP:0100771	Hypoperistalsis	4629	MYH11	OMIM:619350
HP:0100771	Hypoperistalsis	8929	PHOX2B	OMIM:209880
HP:0100771	Hypoperistalsis	5885	RAD21	OMIM:611376
HP:0100771	Hypoperistalsis	25802	LMOD1	ORPHA:2241
HP:0100771	Hypoperistalsis	72	ACTG2	ORPHA:2241
HP:0100771	Hypoperistalsis	4638	MYLK	ORPHA:2241
HP:0100771	Hypoperistalsis	59	ACTA2	OMIM:613834
HP:0100771	Hypoperistalsis	10398	MYL9	OMIM:619365
HP:0100773	Cartilage destruction	3081	HGD	ORPHA:56
HP:0100773	Cartilage destruction	2157	F8	ORPHA:169805
HP:0100773	Cartilage destruction	3106	HLA-B	ORPHA:29207
HP:0100773	Cartilage destruction	1280	COL2A1	ORPHA:2380
HP:0100774	Hyperostosis	5290	PIK3CA	OMIM:612918
HP:0100774	Hyperostosis	4125	MAN2B1	ORPHA:309282
HP:0100774	Hyperostosis	4982	TNFRSF11B	ORPHA:2801
HP:0100774	Hyperostosis	57187	THOC2	ORPHA:457240
HP:0100774	Hyperostosis	760	CA2	OMIM:259730
HP:0100774	Hyperostosis	8600	TNFSF11	OMIM:259710
HP:0100774	Hyperostosis	28962	OSTM1	OMIM:259720
HP:0100774	Hyperostosis	7840	ALMS1	ORPHA:64
HP:0100774	Hyperostosis	7840	ALMS1	OMIM:203800
HP:0100774	Hyperostosis	1277	COL1A1	ORPHA:1310
HP:0100774	Hyperostosis	1277	COL1A1	OMIM:114000
HP:0100774	Hyperostosis	5573	PRKAR1A	OMIM:101800
HP:0100774	Hyperostosis	3425	IDUA	OMIM:607014
HP:0100774	Hyperostosis	84701	COX4I2	OMIM:612714
HP:0100774	Hyperostosis	3178	HNRNPA1	ORPHA:52430
HP:0100774	Hyperostosis	7415	VCP	ORPHA:52430
HP:0100774	Hyperostosis	3181	HNRNPA2B1	ORPHA:52430
HP:0100774	Hyperostosis	4038	LRP4	ORPHA:3152
HP:0100774	Hyperostosis	6197	RPS6KA3	ORPHA:192
HP:0100774	Hyperostosis	2778	GNAS	OMIM:174800
HP:0100774	Hyperostosis	56172	ANKH	ORPHA:1522
HP:0100774	Hyperostosis	4854	NOTCH3	ORPHA:2789
HP:0100774	Hyperostosis	126792	B3GALT6	ORPHA:2725
HP:0100774	Hyperostosis	10312	TCIRG1	ORPHA:1782
HP:0100774	Hyperostosis	55315	SLC29A3	ORPHA:1782
HP:0100774	Hyperostosis	8792	TNFRSF11A	ORPHA:1782
HP:0100774	Hyperostosis	2260	FGFR1	ORPHA:2396
HP:0100774	Hyperostosis	3845	KRAS	ORPHA:2396
HP:0100774	Hyperostosis	2316	FLNA	ORPHA:2484
HP:0100774	Hyperostosis	6916	TBXAS1	ORPHA:1802
HP:0100774	Hyperostosis	4089	SMAD4	ORPHA:2588
HP:0100774	Hyperostosis	2068	ERCC2	ORPHA:910
HP:0100774	Hyperostosis	7507	XPA	ORPHA:910
HP:0100774	Hyperostosis	2071	ERCC3	ORPHA:910
HP:0100774	Hyperostosis	7508	XPC	ORPHA:910
HP:0100774	Hyperostosis	1643	DDB2	ORPHA:910
HP:0100774	Hyperostosis	2072	ERCC4	ORPHA:910
HP:0100774	Hyperostosis	2073	ERCC5	ORPHA:910
HP:0100774	Hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0100774	Hyperostosis	139285	AMER1	ORPHA:2780
HP:0100774	Hyperostosis	23516	SLC39A14	OMIM:144755
HP:0100774	Hyperostosis	50964	SOST	OMIM:269500
HP:0100774	Hyperostosis	5251	PHEX	ORPHA:89936
HP:0100774	Hyperostosis	5604	MAP2K1	OMIM:155950
HP:0100774	Hyperostosis	6578	SLCO2A1	OMIM:614441
HP:0100774	Hyperostosis	23592	LEMD3	ORPHA:166119
HP:0100774	Hyperostosis	23592	LEMD3	ORPHA:1306
HP:0100774	Hyperostosis	2591	GALNT3	OMIM:211900
HP:0100774	Hyperostosis	5728	PTEN	ORPHA:2969
HP:0100774	Hyperostosis	5728	PTEN	ORPHA:744
HP:0100774	Hyperostosis	7454	WAS	ORPHA:906
HP:0100774	Hyperostosis	7456	WIPF1	ORPHA:906
HP:0100774	Hyperostosis	7040	TGFB1	ORPHA:1328
HP:0100774	Hyperostosis	4041	LRP5	OMIM:144750
HP:0100774	Hyperostosis	2697	GJA1	ORPHA:2710
HP:0100774	Hyperostosis	207	AKT1	ORPHA:744
HP:0100774	Hyperostosis	2776	GNAQ	ORPHA:3205
HP:0100775	Dural ectasia	4088	SMAD3	ORPHA:284984
HP:0100775	Dural ectasia	4088	SMAD3	OMIM:613795
HP:0100775	Dural ectasia	4088	SMAD3	ORPHA:91387
HP:0100775	Dural ectasia	284058	KANSL1	ORPHA:363965
HP:0100775	Dural ectasia	284058	KANSL1	ORPHA:363958
HP:0100775	Dural ectasia	4854	NOTCH3	OMIM:130720
HP:0100775	Dural ectasia	4854	NOTCH3	ORPHA:2789
HP:0100775	Dural ectasia	2200	FBN1	OMIM:604308
HP:0100775	Dural ectasia	2200	FBN1	OMIM:154700
HP:0100775	Dural ectasia	2200	FBN1	OMIM:616914
HP:0100775	Dural ectasia	2200	FBN1	ORPHA:91387
HP:0100775	Dural ectasia	4015	LOX	OMIM:617168
HP:0100775	Dural ectasia	4015	LOX	ORPHA:91387
HP:0100775	Dural ectasia	8076	MFAP5	OMIM:616166
HP:0100775	Dural ectasia	8076	MFAP5	ORPHA:91387
HP:0100775	Dural ectasia	7048	TGFBR2	OMIM:610168
HP:0100775	Dural ectasia	7048	TGFBR2	ORPHA:91387
HP:0100775	Dural ectasia	5921	RASA1	ORPHA:90307
HP:0100775	Dural ectasia	7042	TGFB2	OMIM:614816
HP:0100775	Dural ectasia	7042	TGFB2	ORPHA:91387
HP:0100775	Dural ectasia	4763	NF1	ORPHA:97685
HP:0100775	Dural ectasia	4629	MYH11	ORPHA:91387
HP:0100775	Dural ectasia	7046	TGFBR1	ORPHA:91387
HP:0100775	Dural ectasia	4087	SMAD2	ORPHA:91387
HP:0100775	Dural ectasia	7043	TGFB3	ORPHA:91387
HP:0100775	Dural ectasia	4089	SMAD4	ORPHA:91387
HP:0100775	Dural ectasia	59	ACTA2	ORPHA:91387
HP:0100775	Dural ectasia	5592	PRKG1	ORPHA:91387
HP:0100775	Dural ectasia	2301	FOXE3	ORPHA:91387
HP:0100775	Dural ectasia	4144	MAT2A	ORPHA:91387
HP:0100775	Dural ectasia	23493	HEY2	ORPHA:91387
HP:0100775	Dural ectasia	4638	MYLK	ORPHA:91387
HP:0100775	Dural ectasia	2006	ELN	ORPHA:91387
HP:0100776	Recurrent pharyngitis	26191	PTPN22	ORPHA:397
HP:0100776	Recurrent pharyngitis	3106	HLA-B	ORPHA:397
HP:0100776	Recurrent pharyngitis	3123	HLA-DRB1	ORPHA:397
HP:0100776	Recurrent pharyngitis	8974	P4HA2	ORPHA:397
HP:0100776	Recurrent pharyngitis	4791	NFKB2	ORPHA:293978
HP:0100776	Recurrent pharyngitis	55315	SLC29A3	ORPHA:168569
HP:0100776	Recurrent pharyngitis	7132	TNFRSF1A	ORPHA:32960
HP:0100776	Recurrent pharyngitis	331	XIAP	OMIM:308240
HP:0100776	Recurrent pharyngitis	4068	SH2D1A	OMIM:308240
HP:0100776	Recurrent pharyngitis	79087	ALG12	ORPHA:79324
HP:0100777	Exostoses	2131	EXT1	OMIM:133700
HP:0100777	Exostoses	2132	EXT2	OMIM:133701
HP:0100777	Exostoses	4488	MSX2	ORPHA:60015
HP:0100777	Exostoses	60529	ALX4	ORPHA:60015
HP:0100777	Exostoses	6473	SHOX	OMIM:127300
HP:0100777	Exostoses	538	ATP7A	OMIM:304150
HP:0100777	Exostoses	1146	CHRNG	OMIM:265000
HP:0100777	Exostoses	10526	IPO8	OMIM:619472
HP:0100777	Exostoses	7227	TRPS1	ORPHA:502
HP:0100777	Exostoses	5781	PTPN11	OMIM:156250
HP:0100777	Exostoses	2261	FGFR3	OMIM:616482
HP:0100777	Exostoses	5885	RAD21	OMIM:614701
HP:0100777	Exostoses	176	ACAN	OMIM:165800
HP:0100777	Exostoses	5728	PTEN	ORPHA:744
HP:0100777	Exostoses	5728	PTEN	ORPHA:2969
HP:0100777	Exostoses	207	AKT1	ORPHA:744
HP:0100777	Exostoses	51317	PHF21A	ORPHA:52022
HP:0100777	Exostoses	1280	COL2A1	ORPHA:85198
HP:0100777	Exostoses	1280	COL2A1	ORPHA:166100
HP:0100777	Exostoses	3418	IDH2	ORPHA:163634
HP:0100777	Exostoses	3417	IDH1	ORPHA:163634
HP:0100777	Exostoses	1302	COL11A2	ORPHA:166100
HP:0100778	Cryoglobulinemia	4615	MYD88	ORPHA:33226
HP:0100779	Urogenital sinus anomaly	1583	CYP11A1	ORPHA:289548
HP:0100779	Urogenital sinus anomaly	1583	CYP11A1	ORPHA:168558
HP:0100779	Urogenital sinus anomaly	7026	NR2F2	OMIM:618901
HP:0100779	Urogenital sinus anomaly	6662	SOX9	ORPHA:2138
HP:0100779	Urogenital sinus anomaly	6662	SOX9	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	2516	NR5A1	ORPHA:2138
HP:0100779	Urogenital sinus anomaly	2516	NR5A1	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	6736	SRY	ORPHA:2138
HP:0100779	Urogenital sinus anomaly	6736	SRY	ORPHA:1772
HP:0100779	Urogenital sinus anomaly	6736	SRY	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	367	AR	ORPHA:90797
HP:0100779	Urogenital sinus anomaly	4659	PPP1R12A	OMIM:618820
HP:0100779	Urogenital sinus anomaly	57647	DHX37	OMIM:273250
HP:0100779	Urogenital sinus anomaly	57647	DHX37	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	6845	VAMP7	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	51741	WWOX	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	4214	MAP3K1	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	7490	WT1	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	58524	DMRT3	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	23414	ZFPM2	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	190	NR0B1	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	2626	GATA4	ORPHA:251510
HP:0100779	Urogenital sinus anomaly	8195	MKKS	ORPHA:2473
HP:0100779	Urogenital sinus anomaly	1131	CHRM3	ORPHA:2970
HP:0100779	Urogenital sinus anomaly	6716	SRD5A2	ORPHA:753
HP:0001027	Soft, doughy skin	1277	COL1A1	ORPHA:287
HP:0001027	Soft, doughy skin	1277	COL1A1	OMIM:130060
HP:0001027	Soft, doughy skin	1289	COL5A1	ORPHA:287
HP:0001027	Soft, doughy skin	1289	COL5A1	OMIM:619329
HP:0001027	Soft, doughy skin	1290	COL5A2	ORPHA:287
HP:0001027	Soft, doughy skin	1290	COL5A2	OMIM:130010
HP:0001027	Soft, doughy skin	126792	B3GALT6	ORPHA:536467
HP:0001027	Soft, doughy skin	126792	B3GALT6	OMIM:271640
HP:0001027	Soft, doughy skin	3636	INPPL1	OMIM:258480
HP:0001027	Soft, doughy skin	9509	ADAMTS2	OMIM:225410
HP:0001027	Soft, doughy skin	81031	SLC2A10	OMIM:208050
HP:0001027	Soft, doughy skin	1278	COL1A2	ORPHA:230851
HP:0001027	Soft, doughy skin	10367	MICU1	OMIM:615673
HP:0001027	Soft, doughy skin	6651	SON	ORPHA:500150
HP:0001027	Soft, doughy skin	4256	MGP	ORPHA:85202
HP:0001027	Soft, doughy skin	3376	IARS1	ORPHA:541423
HP:0001027	Soft, doughy skin	64131	XYLT1	ORPHA:370930
HP:0001026	Penetrating foot ulcers	2161	F12	ORPHA:330
HP:0001026	Penetrating foot ulcers	81846	SBF2	ORPHA:99956
HP:0001026	Penetrating foot ulcers	10558	SPTLC1	ORPHA:36386
HP:0001026	Penetrating foot ulcers	25923	ATL3	ORPHA:36386
HP:0001026	Penetrating foot ulcers	9517	SPTLC2	ORPHA:36386
HP:0001026	Penetrating foot ulcers	51062	ATL1	ORPHA:36386
HP:0001029	Poikiloderma	55612	FERMT1	ORPHA:2908
HP:0001029	Poikiloderma	55612	FERMT1	OMIM:173650
HP:0001029	Poikiloderma	9401	RECQL4	ORPHA:1225
HP:0001029	Poikiloderma	9401	RECQL4	ORPHA:221016
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:268400
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:218600
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:266280
HP:0001029	Poikiloderma	55699	IARS2	OMIM:616007
HP:0001029	Poikiloderma	1643	DDB2	OMIM:278740
HP:0001029	Poikiloderma	1643	DDB2	ORPHA:910
HP:0001029	Poikiloderma	64682	ANAPC1	OMIM:618625
HP:0001029	Poikiloderma	64682	ANAPC1	ORPHA:221008
HP:0001029	Poikiloderma	4000	LMNA	OMIM:212112
HP:0001029	Poikiloderma	4000	LMNA	OMIM:248370
HP:0001029	Poikiloderma	2074	ERCC6	OMIM:278800
HP:0001029	Poikiloderma	7508	XPC	OMIM:278720
HP:0001029	Poikiloderma	7508	XPC	ORPHA:910
HP:0001029	Poikiloderma	5429	POLH	ORPHA:90342
HP:0001029	Poikiloderma	5429	POLH	OMIM:278750
HP:0001029	Poikiloderma	7507	XPA	OMIM:278700
HP:0001029	Poikiloderma	7507	XPA	ORPHA:910
HP:0001029	Poikiloderma	79650	USB1	OMIM:604173
HP:0001029	Poikiloderma	641	BLM	ORPHA:125
HP:0001029	Poikiloderma	100147744	RNU7-1	OMIM:619487
HP:0001029	Poikiloderma	10651	MTX2	OMIM:619127
HP:0001029	Poikiloderma	1294	COL7A1	ORPHA:158673
HP:0001029	Poikiloderma	2068	ERCC2	ORPHA:220295
HP:0001029	Poikiloderma	2068	ERCC2	OMIM:278730
HP:0001029	Poikiloderma	2068	ERCC2	ORPHA:910
HP:0001029	Poikiloderma	2073	ERCC5	ORPHA:220295
HP:0001029	Poikiloderma	2073	ERCC5	ORPHA:910
HP:0001029	Poikiloderma	2072	ERCC4	ORPHA:220295
HP:0001029	Poikiloderma	2072	ERCC4	ORPHA:910
HP:0001029	Poikiloderma	2071	ERCC3	ORPHA:220295
HP:0001029	Poikiloderma	2071	ERCC3	ORPHA:910
HP:0001029	Poikiloderma	1493	CTLA4	ORPHA:2584
HP:0001029	Poikiloderma	940	CD28	ORPHA:2584
HP:0001029	Poikiloderma	7133	TNFRSF1B	ORPHA:2584
HP:0001029	Poikiloderma	374393	FAM111B	OMIM:615704
HP:0001029	Poikiloderma	84946	LTV1	OMIM:620199
HP:0001028	Hemangioma	9897	WASHC5	ORPHA:7
HP:0001028	Hemangioma	28952	CCDC22	ORPHA:7
HP:0001028	Hemangioma	171023	ASXL1	OMIM:605039
HP:0001028	Hemangioma	5500	PPP1CB	OMIM:617506
HP:0001028	Hemangioma	79644	SRD5A3	OMIM:612713
HP:0001028	Hemangioma	26040	SETBP1	OMIM:269150
HP:0001028	Hemangioma	26040	SETBP1	ORPHA:798
HP:0001028	Hemangioma	246329	STAC3	ORPHA:168572
HP:0001028	Hemangioma	1717	DHCR7	OMIM:270400
HP:0001028	Hemangioma	1717	DHCR7	ORPHA:818
HP:0001028	Hemangioma	2050	EPHB4	ORPHA:137667
HP:0001028	Hemangioma	80036	TRPM3	OMIM:620224
HP:0001028	Hemangioma	9939	RBM8A	OMIM:274000
HP:0001028	Hemangioma	8036	SHOC2	OMIM:607721
HP:0001028	Hemangioma	23013	SPEN	OMIM:619312
HP:0001028	Hemangioma	8367	H4C5	OMIM:619950
HP:0001028	Hemangioma	23135	KDM6B	OMIM:618505
HP:0001028	Hemangioma	55654	TMEM127	OMIM:171300
HP:0001028	Hemangioma	5979	RET	OMIM:171300
HP:0001028	Hemangioma	4149	MAX	OMIM:171300
HP:0001028	Hemangioma	811	CALR	ORPHA:824
HP:0001028	Hemangioma	4352	MPL	ORPHA:824
HP:0001028	Hemangioma	3717	JAK2	ORPHA:824
HP:0001028	Hemangioma	54790	TET2	ORPHA:824
HP:0001028	Hemangioma	64324	NSD1	ORPHA:821
HP:0001028	Hemangioma	29072	SETD2	ORPHA:821
HP:0001028	Hemangioma	10297	APC2	ORPHA:821
HP:0001028	Hemangioma	284058	KANSL1	ORPHA:363965
HP:0001028	Hemangioma	284058	KANSL1	ORPHA:363958
HP:0001028	Hemangioma	5476	CTSA	OMIM:256540
HP:0001028	Hemangioma	28514	DLL1	ORPHA:280200
HP:0001028	Hemangioma	2253	FGF8	ORPHA:280200
HP:0001028	Hemangioma	6496	SIX3	ORPHA:280200
HP:0001028	Hemangioma	7050	TGIF1	ORPHA:280200
HP:0001028	Hemangioma	4838	NODAL	ORPHA:280200
HP:0001028	Hemangioma	6469	SHH	ORPHA:280200
HP:0001028	Hemangioma	51684	SUFU	ORPHA:280200
HP:0001028	Hemangioma	7546	ZIC2	ORPHA:280200
HP:0001028	Hemangioma	2619	GAS1	ORPHA:280200
HP:0001028	Hemangioma	84976	DISP1	ORPHA:280200
HP:0001028	Hemangioma	2736	GLI2	ORPHA:280200
HP:0001028	Hemangioma	8928	FOXH1	ORPHA:280200
HP:0001028	Hemangioma	5727	PTCH1	ORPHA:280200
HP:0001028	Hemangioma	50937	CDON	ORPHA:280200
HP:0001028	Hemangioma	8813	DPM1	OMIM:608799
HP:0001028	Hemangioma	5745	PTH1R	ORPHA:296
HP:0001028	Hemangioma	57492	ARID1B	OMIM:135900
HP:0001028	Hemangioma	10082	GPC6	OMIM:258315
HP:0001028	Hemangioma	340665	CYP26C1	ORPHA:398189
HP:0001028	Hemangioma	23219	FBXO28	OMIM:619777
HP:0001028	Hemangioma	55109	AGGF1	ORPHA:90308
HP:0001028	Hemangioma	23592	LEMD3	ORPHA:1306
HP:0001028	Hemangioma	10312	TCIRG1	ORPHA:486
HP:0001028	Hemangioma	1991	ELANE	ORPHA:486
HP:0001028	Hemangioma	2672	GFI1	ORPHA:486
HP:0001028	Hemangioma	6729	SRP54	ORPHA:486
HP:0001028	Hemangioma	81570	CLPB	ORPHA:486
HP:0001028	Hemangioma	10943	MSL3	OMIM:301032
HP:0001028	Hemangioma	10815	CPLX1	ORPHA:280
HP:0001028	Hemangioma	10815	CPLX1	OMIM:194190
HP:0001028	Hemangioma	54872	PIGG	ORPHA:280
HP:0001028	Hemangioma	7469	NELFA	ORPHA:280
HP:0001028	Hemangioma	1487	CTBP1	ORPHA:280
HP:0001028	Hemangioma	1487	CTBP1	OMIM:194190
HP:0001028	Hemangioma	3954	LETM1	ORPHA:280
HP:0001028	Hemangioma	3954	LETM1	OMIM:194190
HP:0001028	Hemangioma	7468	NSD2	ORPHA:280
HP:0001028	Hemangioma	7468	NSD2	OMIM:194190
HP:0001028	Hemangioma	4763	NF1	ORPHA:363700
HP:0001028	Hemangioma	2475	MTOR	ORPHA:457485
HP:0001028	Hemangioma	7020	TFAP2A	ORPHA:1297
HP:0001028	Hemangioma	657	BMPR1A	ORPHA:79076
HP:0001028	Hemangioma	53834	FGFRL1	OMIM:194190
HP:0001028	Hemangioma	2658	GDF2	ORPHA:774
HP:0001028	Hemangioma	94	ACVRL1	ORPHA:774
HP:0001028	Hemangioma	4089	SMAD4	ORPHA:774
HP:0001028	Hemangioma	2022	ENG	ORPHA:774
HP:0001028	Hemangioma	10483	SEC23B	ORPHA:201
HP:0001028	Hemangioma	5728	PTEN	ORPHA:201
HP:0001028	Hemangioma	6390	SDHB	ORPHA:201
HP:0001028	Hemangioma	6392	SDHD	ORPHA:201
HP:0001028	Hemangioma	6391	SDHC	ORPHA:201
HP:0001028	Hemangioma	207	AKT1	ORPHA:201
HP:0001028	Hemangioma	205717	USF3	ORPHA:201
HP:0001028	Hemangioma	100144748	KLLN	ORPHA:201
HP:0001028	Hemangioma	3265	HRAS	ORPHA:2612
HP:0001028	Hemangioma	3845	KRAS	ORPHA:2612
HP:0001028	Hemangioma	3845	KRAS	ORPHA:1340
HP:0001028	Hemangioma	4893	NRAS	ORPHA:2612
HP:0001028	Hemangioma	7010	TEK	ORPHA:1059
HP:0001028	Hemangioma	4851	NOTCH1	OMIM:616028
HP:0001028	Hemangioma	673	BRAF	OMIM:115150
HP:0001028	Hemangioma	673	BRAF	ORPHA:1340
HP:0001028	Hemangioma	5604	MAP2K1	ORPHA:1340
HP:0001028	Hemangioma	5605	MAP2K2	ORPHA:1340
HP:0001028	Hemangioma	79158	GNPTAB	OMIM:252500
HP:0001028	Hemangioma	55901	THSD1	OMIM:620244
HP:0001028	Hemangioma	274	BIN1	ORPHA:169189
HP:0001028	Hemangioma	64419	MTMR14	ORPHA:169189
HP:0001028	Hemangioma	4618	MYF6	ORPHA:169189
HP:0001028	Hemangioma	1785	DNM2	ORPHA:169189
HP:0001028	Hemangioma	6261	RYR1	ORPHA:169189
HP:0001028	Hemangioma	3239	HOXD13	ORPHA:887
HP:0001028	Hemangioma	2535	FZD2	OMIM:164745
HP:0001028	Hemangioma	22800	RRAS2	OMIM:618624
HP:0001028	Hemangioma	6909	TBX2	OMIM:618223
HP:0001028	Hemangioma	1836	SLC26A2	ORPHA:56304
HP:0001028	Hemangioma	2137	EXTL3	ORPHA:508533
HP:0001028	Hemangioma	9653	HS2ST1	OMIM:619194
HP:0001028	Hemangioma	10484	SEC23A	ORPHA:50814
HP:0001028	Hemangioma	10484	SEC23A	OMIM:607812
HP:0001028	Hemangioma	1857	DVL3	ORPHA:3107
HP:0001028	Hemangioma	7474	WNT5A	ORPHA:3107
HP:0001028	Hemangioma	1855	DVL1	ORPHA:3107
HP:0001028	Hemangioma	2260	FGFR1	ORPHA:2396
HP:0001028	Hemangioma	526	ATP6V1B2	ORPHA:79500
HP:0001028	Hemangioma	57465	TBC1D24	ORPHA:79500
HP:0001028	Hemangioma	2776	GNAQ	ORPHA:3205
HP:0001028	Hemangioma	22827	PUF60	ORPHA:508488
HP:0001028	Hemangioma	2324	FLT4	OMIM:602089
HP:0001028	Hemangioma	84168	ANTXR1	OMIM:602089
HP:0001028	Hemangioma	3791	KDR	OMIM:602089
HP:0001028	Hemangioma	129563	DIS3L2	ORPHA:2849
HP:0001028	Hemangioma	2767	GNA11	ORPHA:1556
HP:0001028	Hemangioma	151188	ARL6IP6	ORPHA:1556
HP:0001028	Hemangioma	440275	EIF2AK4	OMIM:234810
HP:0001028	Hemangioma	440275	EIF2AK4	ORPHA:199241
HP:0001028	Hemangioma	9401	RECQL4	OMIM:218600
HP:0001028	Hemangioma	5921	RASA1	ORPHA:90307
HP:0001028	Hemangioma	3418	IDH2	ORPHA:163634
HP:0001028	Hemangioma	3417	IDH1	ORPHA:163634
HP:0001028	Hemangioma	4247	MGAT2	OMIM:212066
HP:0001028	Hemangioma	5447	POR	ORPHA:95699
HP:0001028	Hemangioma	157570	ESCO2	OMIM:268300
HP:0001028	Hemangioma	2737	GLI3	ORPHA:672
HP:0001028	Hemangioma	2737	GLI3	OMIM:146510
HP:0001028	Hemangioma	10225	CD96	ORPHA:1308
HP:0001028	Hemangioma	1743	DLST	ORPHA:29072
HP:0001028	Hemangioma	4191	MDH2	ORPHA:29072
HP:0001028	Hemangioma	6389	SDHA	ORPHA:29072
HP:0001028	Hemangioma	23095	KIF1B	ORPHA:29072
HP:0001028	Hemangioma	2271	FH	ORPHA:29072
HP:0001028	Hemangioma	8402	SLC25A11	ORPHA:29072
HP:0001028	Hemangioma	54949	SDHAF2	ORPHA:29072
HP:0001028	Hemangioma	1387	CREBBP	OMIM:180849
HP:0001028	Hemangioma	2033	EP300	OMIM:180849
HP:0001028	Hemangioma	595	CCND1	OMIM:193300
HP:0001028	Hemangioma	7428	VHL	OMIM:193300
HP:0001028	Hemangioma	9630	GNA14	ORPHA:1063
HP:0001028	Hemangioma	490	ATP2B1	OMIM:619910
HP:0001028	Hemangioma	5290	PIK3CA	OMIM:619538
HP:0001028	Hemangioma	889	KRIT1	OMIM:116860
HP:0001028	Hemangioma	11235	PDCD10	OMIM:603285
HP:0001028	Hemangioma	83605	CCM2	OMIM:603284
HP:0001028	Hemangioma	2263	FGFR2	ORPHA:1555
HP:0001022	Albinism	63915	BLOC1S5	OMIM:619172
HP:0001022	Albinism	57724	EPG5	OMIM:242840
HP:0001022	Albinism	7299	TYR	OMIM:606952
HP:0001022	Albinism	7299	TYR	OMIM:203100
HP:0001022	Albinism	7299	TYR	ORPHA:79431
HP:0001022	Albinism	7299	TYR	ORPHA:79434
HP:0001022	Albinism	8943	AP3D1	OMIM:617050
HP:0001022	Albinism	83938	LRMDA	OMIM:615179
HP:0001022	Albinism	11152	WDR45	OMIM:615179
HP:0001022	Albinism	4948	OCA2	OMIM:203200
HP:0001022	Albinism	4157	MC1R	OMIM:203200
HP:0001022	Albinism	3257	HPS1	OMIM:203300
HP:0001022	Albinism	51151	SLC45A2	OMIM:606574
HP:0001022	Albinism	51151	SLC45A2	ORPHA:79435
HP:0001022	Albinism	8546	AP3B1	OMIM:608233
HP:0001022	Albinism	1910	EDNRB	OMIM:600501
HP:0001022	Albinism	89781	HPS4	OMIM:614073
HP:0001022	Albinism	11234	HPS5	OMIM:614074
HP:0001022	Albinism	778	CACNA1F	OMIM:300600
HP:0001022	Albinism	4286	MITF	OMIM:193510
HP:0001022	Albinism	84343	HPS3	OMIM:614072
HP:0001022	Albinism	7306	TYRP1	OMIM:203290
HP:0001022	Albinism	388552	BLOC1S3	OMIM:614077
HP:0001022	Albinism	79803	HPS6	OMIM:614075
HP:0001022	Albinism	84062	DTNBP1	OMIM:614076
HP:0001025	Urticaria	171023	ASXL1	ORPHA:98850
HP:0001025	Urticaria	171023	ASXL1	ORPHA:98849
HP:0001025	Urticaria	54790	TET2	ORPHA:98850
HP:0001025	Urticaria	54790	TET2	ORPHA:98849
HP:0001025	Urticaria	867	CBL	ORPHA:98850
HP:0001025	Urticaria	861	RUNX1	ORPHA:98850
HP:0001025	Urticaria	6427	SRSF2	ORPHA:98850
HP:0001025	Urticaria	6427	SRSF2	ORPHA:98849
HP:0001025	Urticaria	3815	KIT	ORPHA:280785
HP:0001025	Urticaria	3815	KIT	OMIM:154800
HP:0001025	Urticaria	3815	KIT	ORPHA:98849
HP:0001025	Urticaria	3815	KIT	OMIM:606764
HP:0001025	Urticaria	875	CBS	ORPHA:394
HP:0001025	Urticaria	355	FAS	ORPHA:3261
HP:0001025	Urticaria	355	FAS	OMIM:601859
HP:0001025	Urticaria	356	FASLG	ORPHA:3261
HP:0001025	Urticaria	356	FASLG	OMIM:601859
HP:0001025	Urticaria	5580	PRKCD	ORPHA:3261
HP:0001025	Urticaria	843	CASP10	ORPHA:3261
HP:0001025	Urticaria	843	CASP10	OMIM:603909
HP:0001025	Urticaria	10125	RASGRP1	ORPHA:3261
HP:0001025	Urticaria	10262	SF3B4	OMIM:154400
HP:0001025	Urticaria	114548	NLRP3	OMIM:617772
HP:0001025	Urticaria	114548	NLRP3	ORPHA:575
HP:0001025	Urticaria	114548	NLRP3	ORPHA:47045
HP:0001025	Urticaria	114548	NLRP3	ORPHA:1451
HP:0001025	Urticaria	114548	NLRP3	OMIM:120100
HP:0001025	Urticaria	5880	RAC2	OMIM:618987
HP:0001025	Urticaria	118429	ANTXR2	ORPHA:2176
HP:0001025	Urticaria	7454	WAS	ORPHA:906
HP:0001025	Urticaria	7456	WIPF1	ORPHA:906
HP:0001025	Urticaria	3119	HLA-DQB1	ORPHA:703
HP:0001025	Urticaria	3123	HLA-DRB1	ORPHA:703
HP:0001025	Urticaria	4598	MVK	ORPHA:343
HP:0001025	Urticaria	7512	XPNPEP2	ORPHA:100057
HP:0001025	Urticaria	58484	NLRC4	OMIM:616050
HP:0001025	Urticaria	58484	NLRC4	OMIM:616115
HP:0001025	Urticaria	11005	SPINK5	OMIM:256500
HP:0001025	Urticaria	11005	SPINK5	ORPHA:634
HP:0001025	Urticaria	2068	ERCC2	ORPHA:220295
HP:0001025	Urticaria	2073	ERCC5	ORPHA:220295
HP:0001025	Urticaria	2072	ERCC4	ORPHA:220295
HP:0001025	Urticaria	2071	ERCC3	ORPHA:220295
HP:0001025	Urticaria	64135	IFIH1	OMIM:615846
HP:0001025	Urticaria	224	ALDH3A2	ORPHA:816
HP:0001025	Urticaria	91662	NLRP12	OMIM:611762
HP:0001025	Urticaria	710	SERPING1	ORPHA:100050
HP:0001025	Urticaria	6785	ELOVL4	ORPHA:1955
HP:0001025	Urticaria	1369	CPN1	OMIM:212070
HP:0001025	Urticaria	51360	MBTPS2	ORPHA:2273
HP:0001025	Urticaria	50943	FOXP3	ORPHA:37042
HP:0001025	Urticaria	4615	MYD88	ORPHA:33226
HP:0001025	Urticaria	6390	SDHB	OMIM:606764
HP:0001025	Urticaria	6391	SDHC	OMIM:606764
HP:0001025	Urticaria	2783	GNB2	OMIM:619503
HP:0001025	Urticaria	80216	ALPK1	OMIM:614979
HP:0001025	Urticaria	30817	ADGRE2	OMIM:125630
HP:0001025	Urticaria	11198	SUPT16H	OMIM:619480
HP:0001025	Urticaria	10999	SLC27A4	OMIM:608649
HP:0001025	Urticaria	3594	IL12RB1	ORPHA:186
HP:0001025	Urticaria	23534	TNPO3	ORPHA:186
HP:0001025	Urticaria	3592	IL12A	ORPHA:186
HP:0001025	Urticaria	6689	SPIB	ORPHA:186
HP:0001025	Urticaria	5450	POU2AF1	ORPHA:186
HP:0001025	Urticaria	9966	TNFSF15	ORPHA:186
HP:0001025	Urticaria	79258	MMEL1	ORPHA:186
HP:0001025	Urticaria	3663	IRF5	ORPHA:186
HP:0001025	Urticaria	5336	PLCG2	OMIM:614468
HP:0001025	Urticaria	146206	CARMIL2	OMIM:618131
HP:0001024	Skin dimple over apex of long bone angulation	249	ALPL	OMIM:241500
HP:0001024	Skin dimple over apex of long bone angulation	249	ALPL	OMIM:241510
HP:0011247	Prominent superior crus of antihelix	23556	PIGN	ORPHA:280633
HP:0011246	Underdeveloped superior crus of antihelix	2316	FLNA	OMIM:300321
HP:0011245	Abnormality of superior crus of antihelix	63932	STEEP1	OMIM:301013
HP:0011245	Abnormality of superior crus of antihelix	2316	FLNA	OMIM:300321
HP:0011245	Abnormality of superior crus of antihelix	23556	PIGN	ORPHA:280633
HP:0011240	Prominent stem of antihelix	6929	TCF3	OMIM:619824
HP:0011244	Abnormality of stem of antihelix	6929	TCF3	OMIM:619824
HP:0011243	Abnormality of inferior crus of antihelix	1387	CREBBP	OMIM:618332
HP:0001030	Fragile skin	5317	PKP1	OMIM:604536
HP:0001030	Fragile skin	5317	PKP1	ORPHA:158668
HP:0001030	Fragile skin	1832	DSP	ORPHA:158687
HP:0001030	Fragile skin	3728	JUP	ORPHA:158687
HP:0001030	Fragile skin	3728	JUP	OMIM:601214
HP:0001030	Fragile skin	716	C1S	OMIM:617174
HP:0001030	Fragile skin	5339	PLEC	OMIM:226730
HP:0001030	Fragile skin	5339	PLEC	ORPHA:158684
HP:0001030	Fragile skin	5339	PLEC	OMIM:612138
HP:0001030	Fragile skin	5339	PLEC	ORPHA:79401
HP:0001030	Fragile skin	3691	ITGB4	OMIM:226730
HP:0001030	Fragile skin	3691	ITGB4	ORPHA:158684
HP:0001030	Fragile skin	3691	ITGB4	ORPHA:251393
HP:0001030	Fragile skin	5566	PRKACA	OMIM:615830
HP:0001030	Fragile skin	3675	ITGA3	OMIM:614748
HP:0001030	Fragile skin	3909	LAMA3	ORPHA:79404
HP:0001030	Fragile skin	3918	LAMC2	ORPHA:79404
HP:0001030	Fragile skin	3914	LAMB3	ORPHA:79404
HP:0001030	Fragile skin	1294	COL7A1	OMIM:604129
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79408
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79409
HP:0001030	Fragile skin	1294	COL7A1	OMIM:226600
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:158676
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:89842
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:158673
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79410
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79411
HP:0001030	Fragile skin	1294	COL7A1	OMIM:132000
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:231568
HP:0001030	Fragile skin	1294	COL7A1	OMIM:131705
HP:0001030	Fragile skin	1308	COL17A1	ORPHA:79406
HP:0001030	Fragile skin	1308	COL17A1	ORPHA:251393
HP:0001030	Fragile skin	113189	CHST14	OMIM:601776
HP:0001030	Fragile skin	4312	MMP1	ORPHA:79408
HP:0001030	Fragile skin	4312	MMP1	OMIM:226600
HP:0001030	Fragile skin	715	C1R	OMIM:130080
HP:0001030	Fragile skin	831	CAST	OMIM:616295
HP:0001030	Fragile skin	1289	COL5A1	OMIM:130000
HP:0001030	Fragile skin	1289	COL5A1	ORPHA:287
HP:0001030	Fragile skin	1278	COL1A2	OMIM:617821
HP:0001030	Fragile skin	55612	FERMT1	OMIM:173650
HP:0001030	Fragile skin	126792	B3GALT6	OMIM:271640
HP:0001030	Fragile skin	1281	COL3A1	OMIM:130050
HP:0001030	Fragile skin	1290	COL5A2	OMIM:130010
HP:0001030	Fragile skin	1290	COL5A2	ORPHA:287
HP:0001030	Fragile skin	5351	PLOD1	ORPHA:1900
HP:0001030	Fragile skin	7389	UROD	ORPHA:95159
HP:0001030	Fragile skin	7389	UROD	OMIM:176100
HP:0001030	Fragile skin	1277	COL1A1	ORPHA:287
HP:0001030	Fragile skin	7286	TUFT1	OMIM:607655
HP:0001030	Fragile skin	9509	ADAMTS2	OMIM:225410
HP:0001030	Fragile skin	5159	PDGFRB	OMIM:616592
HP:0001030	Fragile skin	23086	EXPH5	OMIM:615028
HP:0001030	Fragile skin	3848	KRT1	OMIM:146590
HP:0001030	Fragile skin	1371	CPOX	ORPHA:79273
HP:0001030	Fragile skin	3077	HFE	OMIM:176100
HP:0001030	Fragile skin	3852	KRT5	ORPHA:79396
HP:0001030	Fragile skin	3861	KRT14	ORPHA:79396
HP:0001030	Fragile skin	7390	UROS	ORPHA:79277
HP:0001030	Fragile skin	2623	GATA1	ORPHA:79277
HP:0001031	Subcutaneous lipoma	5728	PTEN	OMIM:158350
HP:0001031	Subcutaneous lipoma	5728	PTEN	ORPHA:2969
HP:0001031	Subcutaneous lipoma	5728	PTEN	ORPHA:79076
HP:0001031	Subcutaneous lipoma	4221	MEN1	OMIM:131100
HP:0001031	Subcutaneous lipoma	2260	FGFR1	OMIM:613001
HP:0001031	Subcutaneous lipoma	5290	PIK3CA	OMIM:615108
HP:0001031	Subcutaneous lipoma	207	AKT1	OMIM:615109
HP:0001031	Subcutaneous lipoma	657	BMPR1A	ORPHA:79076
HP:0001031	Subcutaneous lipoma	1027	CDKN1B	ORPHA:276152
HP:0100780	Conjunctival hamartoma	3858	KRT10	ORPHA:312
HP:0100780	Conjunctival hamartoma	3848	KRT1	ORPHA:312
HP:0100780	Conjunctival hamartoma	10483	SEC23B	ORPHA:201
HP:0100780	Conjunctival hamartoma	5728	PTEN	ORPHA:201
HP:0100780	Conjunctival hamartoma	6390	SDHB	ORPHA:201
HP:0100780	Conjunctival hamartoma	6392	SDHD	ORPHA:201
HP:0100780	Conjunctival hamartoma	6391	SDHC	ORPHA:201
HP:0100780	Conjunctival hamartoma	207	AKT1	ORPHA:201
HP:0100780	Conjunctival hamartoma	205717	USF3	ORPHA:201
HP:0100780	Conjunctival hamartoma	5290	PIK3CA	ORPHA:201
HP:0100780	Conjunctival hamartoma	100144748	KLLN	ORPHA:201
HP:0100781	Abnormal sacroiliac joint morphology	3106	HLA-B	OMIM:106300
HP:0100781	Abnormal sacroiliac joint morphology	5251	PHEX	ORPHA:89936
HP:0100781	Abnormal sacroiliac joint morphology	2261	FGFR3	ORPHA:1860
HP:0100781	Abnormal sacroiliac joint morphology	117581	TWIST2	ORPHA:1807
HP:0100781	Abnormal sacroiliac joint morphology	7132	TNFRSF1A	ORPHA:32960
HP:0100781	Abnormal sacroiliac joint morphology	1758	DMP1	ORPHA:289176
HP:0100781	Abnormal sacroiliac joint morphology	5167	ENPP1	ORPHA:289176
HP:0000446	Narrow nasal bridge	2260	FGFR1	ORPHA:280200
HP:0000446	Narrow nasal bridge	28514	DLL1	ORPHA:280200
HP:0000446	Narrow nasal bridge	2253	FGF8	ORPHA:280200
HP:0000446	Narrow nasal bridge	6496	SIX3	ORPHA:280200
HP:0000446	Narrow nasal bridge	7050	TGIF1	ORPHA:280200
HP:0000446	Narrow nasal bridge	4838	NODAL	ORPHA:280200
HP:0000446	Narrow nasal bridge	6469	SHH	ORPHA:280200
HP:0000446	Narrow nasal bridge	51684	SUFU	ORPHA:280200
HP:0000446	Narrow nasal bridge	7546	ZIC2	ORPHA:280200
HP:0000446	Narrow nasal bridge	2619	GAS1	ORPHA:280200
HP:0000446	Narrow nasal bridge	84976	DISP1	ORPHA:280200
HP:0000446	Narrow nasal bridge	2736	GLI2	ORPHA:280200
HP:0000446	Narrow nasal bridge	8928	FOXH1	ORPHA:280200
HP:0000446	Narrow nasal bridge	5727	PTCH1	ORPHA:280200
HP:0000446	Narrow nasal bridge	50937	CDON	ORPHA:280200
HP:0000446	Narrow nasal bridge	64840	PORCN	OMIM:305600
HP:0000446	Narrow nasal bridge	64840	PORCN	ORPHA:2092
HP:0000446	Narrow nasal bridge	4841	NONO	ORPHA:466791
HP:0000446	Narrow nasal bridge	4841	NONO	OMIM:300967
HP:0000446	Narrow nasal bridge	3763	KCNJ6	ORPHA:435628
HP:0000446	Narrow nasal bridge	3763	KCNJ6	OMIM:614098
HP:0000446	Narrow nasal bridge	4193	MDM2	OMIM:618681
HP:0000446	Narrow nasal bridge	4781	NFIB	OMIM:618286
HP:0000446	Narrow nasal bridge	9401	RECQL4	ORPHA:1225
HP:0000446	Narrow nasal bridge	54551	MAGEL2	ORPHA:398069
HP:0000446	Narrow nasal bridge	54551	MAGEL2	OMIM:176270
HP:0000446	Narrow nasal bridge	8200	GDF5	ORPHA:2639
HP:0000446	Narrow nasal bridge	658	BMPR1B	ORPHA:2639
HP:0000446	Narrow nasal bridge	9968	MED12	OMIM:309520
HP:0000446	Narrow nasal bridge	100151683	RNU4ATAC	ORPHA:353298
HP:0000446	Narrow nasal bridge	4693	NDP	ORPHA:649
HP:0000446	Narrow nasal bridge	7681	MKRN3	OMIM:176270
HP:0000446	Narrow nasal bridge	3653	IPW	OMIM:176270
HP:0000446	Narrow nasal bridge	791114	PWRN1	OMIM:176270
HP:0000446	Narrow nasal bridge	100033413	SNORD116-1	OMIM:176270
HP:0000446	Narrow nasal bridge	8924	HERC2	OMIM:176270
HP:0000446	Narrow nasal bridge	145624	PWAR1	OMIM:176270
HP:0000446	Narrow nasal bridge	23742	NPAP1	OMIM:176270
HP:0000446	Narrow nasal bridge	338433	SNORD115-1	OMIM:176270
HP:0000446	Narrow nasal bridge	4313	MMP2	OMIM:259600
HP:0000446	Narrow nasal bridge	2697	GJA1	ORPHA:2710
HP:0000446	Narrow nasal bridge	2697	GJA1	OMIM:164200
HP:0000446	Narrow nasal bridge	6597	SMARCA4	OMIM:614609
HP:0000446	Narrow nasal bridge	10236	HNRNPR	OMIM:620073
HP:0000446	Narrow nasal bridge	25839	COG4	OMIM:618150
HP:0000446	Narrow nasal bridge	25839	COG4	ORPHA:85172
HP:0000446	Narrow nasal bridge	129285	PPP1R21	OMIM:619383
HP:0000446	Narrow nasal bridge	6595	SMARCA2	OMIM:601358
HP:0000446	Narrow nasal bridge	6595	SMARCA2	ORPHA:3051
HP:0000446	Narrow nasal bridge	1281	COL3A1	ORPHA:286
HP:0000446	Narrow nasal bridge	1387	CREBBP	OMIM:618332
HP:0000446	Narrow nasal bridge	2033	EP300	OMIM:618333
HP:0000446	Narrow nasal bridge	11342	RNF13	OMIM:618379
HP:0000446	Narrow nasal bridge	11342	RNF13	ORPHA:544503
HP:0000446	Narrow nasal bridge	51305	KCNK9	ORPHA:166108
HP:0000446	Narrow nasal bridge	6492	SIM1	ORPHA:398079
HP:0000446	Narrow nasal bridge	10847	SRCAP	ORPHA:2044
HP:0000446	Narrow nasal bridge	6638	SNRPN	ORPHA:177907
HP:0000446	Narrow nasal bridge	5077	PAX3	ORPHA:896
HP:0100783	Breast aplasia	284252	KCTD1	OMIM:181270
HP:0100783	Breast aplasia	284252	KCTD1	ORPHA:2036
HP:0100783	Breast aplasia	5980	REV3L	ORPHA:570
HP:0100783	Breast aplasia	23129	PLXND1	ORPHA:570
HP:0100783	Breast aplasia	8626	TP63	ORPHA:69085
HP:0100783	Breast aplasia	8318	CDC45	OMIM:617063
HP:0100783	Breast aplasia	8318	CDC45	ORPHA:2554
HP:0100783	Breast aplasia	1859	DYRK1A	ORPHA:268261
HP:0100783	Breast aplasia	2099	ESR1	OMIM:615363
HP:0100783	Breast aplasia	117581	TWIST2	ORPHA:1231
HP:0100783	Breast aplasia	8517	IKBKG	OMIM:308300
HP:0100783	Breast aplasia	4000	LMNA	ORPHA:90153
HP:0100783	Breast aplasia	10651	MTX2	ORPHA:90153
HP:0100783	Breast aplasia	81620	CDT1	ORPHA:2554
HP:0100783	Breast aplasia	5000	ORC4	ORPHA:2554
HP:0100783	Breast aplasia	23594	ORC6	ORPHA:2554
HP:0100783	Breast aplasia	990	CDC6	ORPHA:2554
HP:0100783	Breast aplasia	4998	ORC1	ORPHA:2554
HP:0100783	Breast aplasia	51053	GMNN	ORPHA:2554
HP:0100783	Breast aplasia	6926	TBX3	ORPHA:3138
HP:0100784	Peripheral arteriovenous fistula	2658	GDF2	ORPHA:774
HP:0100784	Peripheral arteriovenous fistula	94	ACVRL1	ORPHA:774
HP:0100784	Peripheral arteriovenous fistula	4089	SMAD4	ORPHA:774
HP:0100784	Peripheral arteriovenous fistula	2022	ENG	ORPHA:774
HP:0100784	Peripheral arteriovenous fistula	2050	EPHB4	ORPHA:137667
HP:0100784	Peripheral arteriovenous fistula	2050	EPHB4	ORPHA:1053
HP:0100784	Peripheral arteriovenous fistula	5921	RASA1	ORPHA:137667
HP:0100784	Peripheral arteriovenous fistula	5921	RASA1	ORPHA:90307
HP:0100784	Peripheral arteriovenous fistula	1281	COL3A1	ORPHA:286
HP:0100784	Peripheral arteriovenous fistula	55109	AGGF1	ORPHA:90308
HP:0100785	Insomnia	57479	PRR12	OMIM:619539
HP:0100785	Insomnia	51111	KMT5B	OMIM:617788
HP:0100785	Insomnia	2799	GNS	OMIM:252940
HP:0100785	Insomnia	1407	CRY1	OMIM:614163
HP:0100785	Insomnia	6304	SATB1	OMIM:619229
HP:0100785	Insomnia	5138	PDE2A	OMIM:619150
HP:0100785	Insomnia	5621	PRNP	ORPHA:282166
HP:0100785	Insomnia	5621	PRNP	OMIM:600072
HP:0100785	Insomnia	3064	HTT	ORPHA:399
HP:0100785	Insomnia	6515	SLC2A3	ORPHA:399
HP:0100785	Insomnia	2590	GALNT2	OMIM:618885
HP:0100785	Insomnia	10381	TUBB3	ORPHA:300570
HP:0100785	Insomnia	7994	KAT6A	OMIM:616268
HP:0100785	Insomnia	162417	NAGS	ORPHA:927
HP:0100785	Insomnia	10165	SLC25A13	ORPHA:247585
HP:0100785	Insomnia	6804	STX1A	ORPHA:904
HP:0100785	Insomnia	7461	CLIP2	ORPHA:904
HP:0100785	Insomnia	84277	DNAJC30	ORPHA:904
HP:0100785	Insomnia	8468	FKBP6	ORPHA:904
HP:0100785	Insomnia	5982	RFC2	ORPHA:904
HP:0100785	Insomnia	2969	GTF2I	ORPHA:904
HP:0100785	Insomnia	3984	LIMK1	ORPHA:904
HP:0100785	Insomnia	9569	GTF2IRD1	ORPHA:904
HP:0100785	Insomnia	155382	VPS37D	ORPHA:904
HP:0100785	Insomnia	155368	METTL27	ORPHA:904
HP:0100785	Insomnia	114049	BUD23	ORPHA:904
HP:0100785	Insomnia	7458	EIF4H	ORPHA:904
HP:0100785	Insomnia	84163	GTF2IRD2	ORPHA:904
HP:0100785	Insomnia	9275	BCL7B	ORPHA:904
HP:0100785	Insomnia	26608	TBL2	ORPHA:904
HP:0100785	Insomnia	653361	NCF1	ORPHA:904
HP:0100785	Insomnia	135886	TMEM270	ORPHA:904
HP:0100785	Insomnia	51085	MLXIPL	ORPHA:904
HP:0100785	Insomnia	9031	BAZ1B	ORPHA:904
HP:0100785	Insomnia	2006	ELN	ORPHA:904
HP:0100785	Insomnia	4221	MEN1	ORPHA:97279
HP:0100785	Insomnia	7528	YY1	ORPHA:97279
HP:0100785	Insomnia	1371	CPOX	OMIM:121300
HP:0100785	Insomnia	10273	STUB1	OMIM:618093
HP:0100785	Insomnia	3074	HEXB	ORPHA:309162
HP:0100785	Insomnia	3119	HLA-DQB1	ORPHA:83465
HP:0100785	Insomnia	3060	HCRT	ORPHA:83465
HP:0100785	Insomnia	22891	ZNF365	ORPHA:83465
HP:0100785	Insomnia	3123	HLA-DRB1	ORPHA:83465
HP:0100785	Insomnia	5205	ATP8B1	ORPHA:69665
HP:0100785	Insomnia	8647	ABCB11	ORPHA:69665
HP:0100785	Insomnia	5244	ABCB4	ORPHA:69665
HP:0100785	Insomnia	9971	NR1H4	ORPHA:69665
HP:0100785	Insomnia	54832	VPS13C	ORPHA:2828
HP:0100785	Insomnia	11315	PARK7	ORPHA:2828
HP:0100785	Insomnia	7345	UCHL1	ORPHA:2828
HP:0100785	Insomnia	27429	HTRA2	ORPHA:2828
HP:0100785	Insomnia	120892	LRRK2	ORPHA:2828
HP:0100785	Insomnia	9829	DNAJC6	ORPHA:2828
HP:0100785	Insomnia	6622	SNCA	ORPHA:2828
HP:0100785	Insomnia	5420	PODXL	ORPHA:2828
HP:0100785	Insomnia	65018	PINK1	ORPHA:2828
HP:0100785	Insomnia	8867	SYNJ1	ORPHA:2828
HP:0100785	Insomnia	5071	PRKN	ORPHA:2828
HP:0100785	Insomnia	8996	NOL3	OMIM:614937
HP:0100785	Insomnia	3145	HMBS	ORPHA:79276
HP:0100785	Insomnia	540	ATP7B	OMIM:277900
HP:0100785	Insomnia	1188	CLCNKB	ORPHA:358
HP:0100785	Insomnia	6559	SLC12A3	ORPHA:358
HP:0100785	Insomnia	10667	FARS2	ORPHA:466722
HP:0100785	Insomnia	1639	DCTN1	OMIM:168605
HP:0100786	Hypersomnia	5621	PRNP	ORPHA:282166
HP:0100786	Hypersomnia	3074	HEXB	ORPHA:309162
HP:0100786	Hypersomnia	57479	PRR12	OMIM:619539
HP:0100786	Hypersomnia	50506	DUOX2	ORPHA:226316
HP:0100786	Hypersomnia	7080	NKX2-1	ORPHA:95713
HP:0100786	Hypersomnia	7849	PAX8	ORPHA:95713
HP:0100786	Hypersomnia	7849	PAX8	ORPHA:95712
HP:0100786	Hypersomnia	1482	NKX2-5	ORPHA:95713
HP:0100786	Hypersomnia	1482	NKX2-5	ORPHA:95712
HP:0100786	Hypersomnia	2304	FOXE1	ORPHA:95713
HP:0100786	Hypersomnia	7253	TSHR	ORPHA:95713
HP:0100786	Hypersomnia	5172	SLC26A4	ORPHA:95713
HP:0100786	Hypersomnia	51567	TDP2	OMIM:616949
HP:0100786	Hypersomnia	83550	GPR101	ORPHA:963
HP:0100786	Hypersomnia	9049	AIP	ORPHA:963
HP:0100787	Prostate neoplasm	672	BRCA1	ORPHA:145
HP:0100787	Prostate neoplasm	5892	RAD51D	ORPHA:145
HP:0100787	Prostate neoplasm	675	BRCA2	ORPHA:145
HP:0100787	Prostate neoplasm	675	BRCA2	OMIM:176807
HP:0100787	Prostate neoplasm	5728	PTEN	ORPHA:145
HP:0100787	Prostate neoplasm	5728	PTEN	OMIM:176807
HP:0100787	Prostate neoplasm	10111	RAD50	ORPHA:145
HP:0100787	Prostate neoplasm	580	BARD1	ORPHA:145
HP:0100787	Prostate neoplasm	5888	RAD51	ORPHA:145
HP:0100787	Prostate neoplasm	4683	NBN	ORPHA:145
HP:0100787	Prostate neoplasm	5889	RAD51C	ORPHA:145
HP:0100787	Prostate neoplasm	83990	BRIP1	ORPHA:145
HP:0100787	Prostate neoplasm	4361	MRE11	ORPHA:145
HP:0100787	Prostate neoplasm	79728	PALB2	ORPHA:145
HP:0100787	Prostate neoplasm	11200	CHEK2	ORPHA:145
HP:0100787	Prostate neoplasm	11200	CHEK2	OMIM:176807
HP:0100787	Prostate neoplasm	11200	CHEK2	ORPHA:524
HP:0100787	Prostate neoplasm	2048	EPHB2	OMIM:603688
HP:0100787	Prostate neoplasm	463	ZFHX3	OMIM:176807
HP:0100787	Prostate neoplasm	1316	KLF6	OMIM:176807
HP:0100787	Prostate neoplasm	999	CDH1	OMIM:176807
HP:0100787	Prostate neoplasm	367	AR	OMIM:176807
HP:0100787	Prostate neoplasm	4601	MXI1	OMIM:176807
HP:0100787	Prostate neoplasm	8379	MAD1L1	OMIM:176807
HP:0100787	Prostate neoplasm	54894	RNF43	ORPHA:157798
HP:0100787	Prostate neoplasm	6041	RNASEL	OMIM:601518
HP:0100787	Prostate neoplasm	26585	GREM1	ORPHA:157794
HP:0100787	Prostate neoplasm	657	BMPR1A	ORPHA:157794
HP:0100787	Prostate neoplasm	2304	FOXE1	OMIM:616534
HP:0100787	Prostate neoplasm	4665	NAB2	ORPHA:2126
HP:0100787	Prostate neoplasm	6778	STAT6	ORPHA:2126
HP:0100787	Prostate neoplasm	4913	NTHL1	OMIM:616415
HP:0100787	Prostate neoplasm	324	APC	ORPHA:79665
HP:0100787	Prostate neoplasm	7373	COL14A1	ORPHA:79501
HP:0100787	Prostate neoplasm	79719	AAGAB	ORPHA:79501
HP:0100787	Prostate neoplasm	1029	CDKN2A	ORPHA:524
HP:0100787	Prostate neoplasm	4193	MDM2	ORPHA:524
HP:0100787	Prostate neoplasm	7157	TP53	OMIM:151623
HP:0100789	Torus palatinus	57479	PRR12	OMIM:619539
HP:0100789	Torus palatinus	4041	LRP5	OMIM:607634
HP:0100789	Torus palatinus	4041	LRP5	ORPHA:2790
HP:0100789	Torus palatinus	4041	LRP5	OMIM:144750
HP:0100789	Torus palatinus	6469	SHH	OMIM:147250
HP:0100789	Torus palatinus	26137	ZBTB20	OMIM:259050
HP:0001034	Hypermelanotic macule	3479	IGF1	ORPHA:73272
HP:0001034	Hypermelanotic macule	8367	H4C5	OMIM:619950
HP:0001034	Hypermelanotic macule	8216	LZTR1	OMIM:616564
HP:0001034	Hypermelanotic macule	8216	LZTR1	OMIM:605275
HP:0001034	Hypermelanotic macule	4683	NBN	OMIM:251260
HP:0001034	Hypermelanotic macule	55240	STEAP3	OMIM:615234
HP:0001034	Hypermelanotic macule	55240	STEAP3	ORPHA:300298
HP:0001034	Hypermelanotic macule	55654	TMEM127	OMIM:171300
HP:0001034	Hypermelanotic macule	5979	RET	OMIM:171300
HP:0001034	Hypermelanotic macule	6390	SDHB	OMIM:171300
HP:0001034	Hypermelanotic macule	6392	SDHD	OMIM:171300
HP:0001034	Hypermelanotic macule	4149	MAX	OMIM:171300
HP:0001034	Hypermelanotic macule	7428	VHL	OMIM:171300
HP:0001034	Hypermelanotic macule	161742	SPRED1	OMIM:611431
HP:0001034	Hypermelanotic macule	324	APC	ORPHA:99818
HP:0001034	Hypermelanotic macule	26040	SETBP1	ORPHA:436151
HP:0001034	Hypermelanotic macule	64682	ANAPC1	OMIM:618625
HP:0001034	Hypermelanotic macule	10060	ABCC9	OMIM:619719
HP:0001034	Hypermelanotic macule	84570	COL25A1	ORPHA:91411
HP:0001034	Hypermelanotic macule	79776	ZFHX4	ORPHA:91411
HP:0001034	Hypermelanotic macule	6548	SLC9A1	OMIM:616291
HP:0001034	Hypermelanotic macule	197131	UBR1	OMIM:243800
HP:0001034	Hypermelanotic macule	2175	FANCA	OMIM:227650
HP:0001034	Hypermelanotic macule	55215	FANCI	OMIM:609053
HP:0001034	Hypermelanotic macule	472	ATM	OMIM:208900
HP:0001034	Hypermelanotic macule	2188	FANCF	OMIM:603467
HP:0001034	Hypermelanotic macule	284058	KANSL1	ORPHA:363958
HP:0001034	Hypermelanotic macule	284058	KANSL1	ORPHA:363965
HP:0001034	Hypermelanotic macule	3481	IGF2	OMIM:180860
HP:0001034	Hypermelanotic macule	3481	IGF2	ORPHA:397590
HP:0001034	Hypermelanotic macule	2178	FANCE	OMIM:600901
HP:0001034	Hypermelanotic macule	7156	TOP3A	OMIM:618097
HP:0001034	Hypermelanotic macule	2475	MTOR	ORPHA:457485
HP:0001034	Hypermelanotic macule	2475	MTOR	OMIM:616638
HP:0001034	Hypermelanotic macule	6663	SOX10	OMIM:611584
HP:0001034	Hypermelanotic macule	51729	WBP11	OMIM:619227
HP:0001034	Hypermelanotic macule	5116	PCNT	OMIM:210720
HP:0001034	Hypermelanotic macule	4771	NF2	OMIM:101000
HP:0001034	Hypermelanotic macule	699	BUB1	OMIM:620183
HP:0001034	Hypermelanotic macule	1186	CLCN7	OMIM:618541
HP:0001034	Hypermelanotic macule	1387	CREBBP	OMIM:180849
HP:0001034	Hypermelanotic macule	2033	EP300	OMIM:180849
HP:0001034	Hypermelanotic macule	7249	TSC2	OMIM:613254
HP:0001034	Hypermelanotic macule	3458	IFNG	OMIM:613254
HP:0001034	Hypermelanotic macule	10283	CWC27	OMIM:250410
HP:0001034	Hypermelanotic macule	10283	CWC27	ORPHA:166035
HP:0001034	Hypermelanotic macule	8936	WASF1	OMIM:618707
HP:0001034	Hypermelanotic macule	55719	SLF2	OMIM:620184
HP:0001034	Hypermelanotic macule	285590	SH3PXD2B	OMIM:249420
HP:0001034	Hypermelanotic macule	9702	CEP57	OMIM:614114
HP:0001034	Hypermelanotic macule	1028	CDKN1C	ORPHA:397590
HP:0001034	Hypermelanotic macule	5324	PLAG1	ORPHA:397590
HP:0001034	Hypermelanotic macule	8091	HMGA2	ORPHA:397590
HP:0001034	Hypermelanotic macule	641	BLM	OMIM:210900
HP:0001034	Hypermelanotic macule	641	BLM	ORPHA:125
HP:0001034	Hypermelanotic macule	5500	PPP1CB	OMIM:617506
HP:0001034	Hypermelanotic macule	7248	TSC1	OMIM:191100
HP:0001034	Hypermelanotic macule	79728	PALB2	OMIM:610832
HP:0001034	Hypermelanotic macule	675	BRCA2	OMIM:605724
HP:0001034	Hypermelanotic macule	2177	FANCD2	OMIM:227646
HP:0001034	Hypermelanotic macule	2176	FANCC	OMIM:227645
HP:0001034	Hypermelanotic macule	55120	FANCL	OMIM:614083
HP:0001034	Hypermelanotic macule	9968	MED12	OMIM:300895
HP:0001034	Hypermelanotic macule	4221	MEN1	OMIM:131100
HP:0001034	Hypermelanotic macule	9652	SKIC3	OMIM:222470
HP:0001034	Hypermelanotic macule	9652	SKIC3	ORPHA:84064
HP:0001034	Hypermelanotic macule	55023	PHIP	OMIM:617991
HP:0001034	Hypermelanotic macule	55023	PHIP	ORPHA:589905
HP:0001034	Hypermelanotic macule	1315	COPB1	OMIM:619255
HP:0001034	Hypermelanotic macule	84464	SLX4	OMIM:613951
HP:0001034	Hypermelanotic macule	157570	ESCO2	OMIM:268300
HP:0001034	Hypermelanotic macule	6595	SMARCA2	OMIM:601358
HP:0001034	Hypermelanotic macule	867	CBL	OMIM:613563
HP:0001034	Hypermelanotic macule	6499	SKIC2	ORPHA:84064
HP:0001034	Hypermelanotic macule	22907	DHX30	OMIM:617804
HP:0001034	Hypermelanotic macule	5426	POLE	OMIM:618336
HP:0001034	Hypermelanotic macule	8085	KMT2D	OMIM:147920
HP:0001034	Hypermelanotic macule	7403	KDM6A	OMIM:147920
HP:0001034	Hypermelanotic macule	25778	DSTYK	ORPHA:101003
HP:0001034	Hypermelanotic macule	25778	DSTYK	OMIM:270750
HP:0001034	Hypermelanotic macule	5573	PRKAR1A	OMIM:160980
HP:0001034	Hypermelanotic macule	5573	PRKAR1A	ORPHA:1359
HP:0001034	Hypermelanotic macule	5605	MAP2K2	OMIM:615280
HP:0001034	Hypermelanotic macule	5605	MAP2K2	ORPHA:1340
HP:0001034	Hypermelanotic macule	8036	SHOC2	OMIM:607721
HP:0001034	Hypermelanotic macule	5781	PTPN11	OMIM:151100
HP:0001034	Hypermelanotic macule	5781	PTPN11	ORPHA:500
HP:0001034	Hypermelanotic macule	5594	MAPK1	OMIM:619087
HP:0001034	Hypermelanotic macule	4893	NRAS	OMIM:613224
HP:0001034	Hypermelanotic macule	5894	RAF1	OMIM:611554
HP:0001034	Hypermelanotic macule	5894	RAF1	OMIM:611553
HP:0001034	Hypermelanotic macule	5894	RAF1	ORPHA:500
HP:0001034	Hypermelanotic macule	5604	MAP2K1	ORPHA:1340
HP:0001034	Hypermelanotic macule	3845	KRAS	ORPHA:1340
HP:0001034	Hypermelanotic macule	50940	PDE11A	ORPHA:1359
HP:0001034	Hypermelanotic macule	23141	ANKLE2	OMIM:616681
HP:0001034	Hypermelanotic macule	112858	TP53RK	OMIM:617730
HP:0001034	Hypermelanotic macule	3815	KIT	OMIM:154800
HP:0001034	Hypermelanotic macule	3815	KIT	ORPHA:79455
HP:0001034	Hypermelanotic macule	23135	KDM6B	OMIM:618505
HP:0001034	Hypermelanotic macule	5290	PIK3CA	ORPHA:60040
HP:0001034	Hypermelanotic macule	60	ACTB	ORPHA:64755
HP:0001034	Hypermelanotic macule	3569	IL6	OMIM:148000
HP:0001034	Hypermelanotic macule	4254	KITLG	OMIM:145250
HP:0001034	Hypermelanotic macule	4254	KITLG	OMIM:619947
HP:0001034	Hypermelanotic macule	2261	FGFR3	ORPHA:53271
HP:0001034	Hypermelanotic macule	56983	POGLUT1	ORPHA:79145
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79145
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79397
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79399
HP:0001034	Hypermelanotic macule	23509	POFUT1	ORPHA:79145
HP:0001034	Hypermelanotic macule	55851	PSENEN	ORPHA:79145
HP:0001034	Hypermelanotic macule	56916	SMARCAD1	OMIM:129200
HP:0001034	Hypermelanotic macule	7507	XPA	OMIM:278700
HP:0001034	Hypermelanotic macule	7507	XPA	ORPHA:910
HP:0001034	Hypermelanotic macule	1161	ERCC8	ORPHA:90321
HP:0001034	Hypermelanotic macule	1161	ERCC8	ORPHA:90322
HP:0001034	Hypermelanotic macule	2072	ERCC4	ORPHA:90321
HP:0001034	Hypermelanotic macule	2072	ERCC4	ORPHA:910
HP:0001034	Hypermelanotic macule	2074	ERCC6	ORPHA:90321
HP:0001034	Hypermelanotic macule	2074	ERCC6	ORPHA:90322
HP:0001034	Hypermelanotic macule	2074	ERCC6	OMIM:278800
HP:0001034	Hypermelanotic macule	2776	GNAQ	ORPHA:624
HP:0001034	Hypermelanotic macule	2067	ERCC1	ORPHA:90322
HP:0001034	Hypermelanotic macule	4000	LMNA	ORPHA:740
HP:0001034	Hypermelanotic macule	10269	ZMPSTE24	ORPHA:740
HP:0001034	Hypermelanotic macule	50485	SMARCAL1	ORPHA:1830
HP:0001034	Hypermelanotic macule	50485	SMARCAL1	OMIM:242900
HP:0001034	Hypermelanotic macule	10058	ABCB6	OMIM:615402
HP:0001034	Hypermelanotic macule	10058	ABCB6	ORPHA:241
HP:0001034	Hypermelanotic macule	488	ATP2A2	ORPHA:218
HP:0001034	Hypermelanotic macule	488	ATP2A2	OMIM:124200
HP:0001034	Hypermelanotic macule	7132	TNFRSF1A	ORPHA:32960
HP:0001034	Hypermelanotic macule	2778	GNAS	ORPHA:2762
HP:0001034	Hypermelanotic macule	1536	CYBB	ORPHA:379
HP:0001034	Hypermelanotic macule	4688	NCF2	ORPHA:379
HP:0001034	Hypermelanotic macule	1535	CYBA	ORPHA:379
HP:0001034	Hypermelanotic macule	4689	NCF4	ORPHA:379
HP:0001034	Hypermelanotic macule	653361	NCF1	ORPHA:379
HP:0001034	Hypermelanotic macule	79415	CYBC1	ORPHA:379
HP:0001034	Hypermelanotic macule	8869	ST3GAL5	OMIM:609056
HP:0001034	Hypermelanotic macule	54	ACP5	OMIM:607944
HP:0001034	Hypermelanotic macule	716	C1S	ORPHA:75392
HP:0001034	Hypermelanotic macule	715	C1R	ORPHA:75392
HP:0001034	Hypermelanotic macule	3643	INSR	OMIM:246200
HP:0001034	Hypermelanotic macule	1663	DDX11	OMIM:613398
HP:0001034	Hypermelanotic macule	6794	STK11	OMIM:175200
HP:0001034	Hypermelanotic macule	5339	PLEC	ORPHA:79401
HP:0001034	Hypermelanotic macule	4313	MMP2	OMIM:259600
HP:0001034	Hypermelanotic macule	23328	SASH1	OMIM:618373
HP:0001034	Hypermelanotic macule	80169	CTC1	ORPHA:1775
HP:0001034	Hypermelanotic macule	26277	TINF2	ORPHA:1775
HP:0001034	Hypermelanotic macule	55651	NHP2	ORPHA:1775
HP:0001034	Hypermelanotic macule	79650	USB1	ORPHA:1775
HP:0001034	Hypermelanotic macule	55135	WRAP53	ORPHA:1775
HP:0001034	Hypermelanotic macule	51750	RTEL1	ORPHA:1775
HP:0001034	Hypermelanotic macule	4869	NPM1	ORPHA:1775
HP:0001034	Hypermelanotic macule	7012	TERC	ORPHA:1775
HP:0001034	Hypermelanotic macule	55505	NOP10	ORPHA:1775
HP:0001034	Hypermelanotic macule	5073	PARN	ORPHA:1775
HP:0001034	Hypermelanotic macule	7015	TERT	ORPHA:1775
HP:0001034	Hypermelanotic macule	1736	DKC1	ORPHA:1775
HP:0001034	Hypermelanotic macule	7298	TYMS	ORPHA:1775
HP:0001034	Hypermelanotic macule	10457	GPNMB	OMIM:617920
HP:0001034	Hypermelanotic macule	2697	GJA1	ORPHA:317
HP:0001034	Hypermelanotic macule	2707	GJB3	ORPHA:317
HP:0001034	Hypermelanotic macule	2531	KDSR	ORPHA:317
HP:0001034	Hypermelanotic macule	127534	GJB4	ORPHA:317
HP:0001034	Hypermelanotic macule	3861	KRT14	ORPHA:79397
HP:0001034	Hypermelanotic macule	3861	KRT14	ORPHA:79399
HP:0001034	Hypermelanotic macule	4763	NF1	ORPHA:97685
HP:0001034	Hypermelanotic macule	2068	ERCC2	ORPHA:910
HP:0001034	Hypermelanotic macule	2071	ERCC3	ORPHA:910
HP:0001034	Hypermelanotic macule	7508	XPC	ORPHA:910
HP:0001034	Hypermelanotic macule	1643	DDB2	ORPHA:910
HP:0001034	Hypermelanotic macule	2073	ERCC5	ORPHA:910
HP:0001034	Hypermelanotic macule	1027	CDKN1B	ORPHA:652
HP:0001034	Hypermelanotic macule	1026	CDKN1A	ORPHA:652
HP:0001034	Hypermelanotic macule	1030	CDKN2B	ORPHA:652
HP:0001034	Hypermelanotic macule	1031	CDKN2C	ORPHA:652
HP:0001034	Hypermelanotic macule	1308	COL17A1	OMIM:619787
HP:0001034	Hypermelanotic macule	2783	GNB2	OMIM:619503
HP:0001034	Hypermelanotic macule	6418	SET	OMIM:618106
HP:0001034	Hypermelanotic macule	5932	RBBP8	OMIM:606744
HP:0001034	Hypermelanotic macule	9319	TRIP13	OMIM:617598
HP:0001034	Hypermelanotic macule	673	BRAF	OMIM:613707
HP:0001034	Hypermelanotic macule	4436	MSH2	OMIM:619096
HP:0001034	Hypermelanotic macule	2956	MSH6	OMIM:619097
HP:0001034	Hypermelanotic macule	5980	REV3L	ORPHA:570
HP:0001034	Hypermelanotic macule	23129	PLXND1	ORPHA:570
HP:0001034	Hypermelanotic macule	11253	MAN1B1	ORPHA:397941
HP:0001034	Hypermelanotic macule	2189	FANCG	OMIM:614082
HP:0001034	Hypermelanotic macule	2189	FANCG	ORPHA:84
HP:0001034	Hypermelanotic macule	8242	KDM5C	ORPHA:85279
HP:0001034	Hypermelanotic macule	5728	PTEN	ORPHA:109
HP:0001034	Hypermelanotic macule	5728	PTEN	ORPHA:744
HP:0001034	Hypermelanotic macule	5728	PTEN	ORPHA:201
HP:0001034	Hypermelanotic macule	672	BRCA1	ORPHA:84
HP:0001034	Hypermelanotic macule	10459	MAD2L2	ORPHA:84
HP:0001034	Hypermelanotic macule	7516	XRCC2	ORPHA:84
HP:0001034	Hypermelanotic macule	29089	UBE2T	ORPHA:84
HP:0001034	Hypermelanotic macule	2187	FANCB	ORPHA:84
HP:0001034	Hypermelanotic macule	5888	RAD51	ORPHA:84
HP:0001034	Hypermelanotic macule	5889	RAD51C	ORPHA:84
HP:0001034	Hypermelanotic macule	55159	RFWD3	ORPHA:84
HP:0001034	Hypermelanotic macule	83990	BRIP1	ORPHA:84
HP:0001034	Hypermelanotic macule	83990	BRIP1	OMIM:609054
HP:0001034	Hypermelanotic macule	57697	FANCM	ORPHA:84
HP:0001034	Hypermelanotic macule	11322	TMC6	ORPHA:302
HP:0001034	Hypermelanotic macule	3574	IL7	ORPHA:302
HP:0001034	Hypermelanotic macule	147138	TMC8	ORPHA:302
HP:0001034	Hypermelanotic macule	10519	CIB1	ORPHA:302
HP:0001034	Hypermelanotic macule	4292	MLH1	OMIM:276300
HP:0001034	Hypermelanotic macule	207	AKT1	ORPHA:744
HP:0001034	Hypermelanotic macule	207	AKT1	ORPHA:201
HP:0001034	Hypermelanotic macule	10483	SEC23B	ORPHA:201
HP:0001034	Hypermelanotic macule	6391	SDHC	ORPHA:201
HP:0001034	Hypermelanotic macule	205717	USF3	ORPHA:201
HP:0001034	Hypermelanotic macule	100144748	KLLN	ORPHA:201
HP:0001034	Hypermelanotic macule	117581	TWIST2	ORPHA:1807
HP:0001034	Hypermelanotic macule	8626	TP63	ORPHA:69085
HP:0001034	Hypermelanotic macule	9184	BUB3	ORPHA:1052
HP:0001034	Hypermelanotic macule	701	BUB1B	ORPHA:1052
HP:0001034	Hypermelanotic macule	5395	PMS2	OMIM:619101
HP:0001034	Hypermelanotic macule	473	RERE	OMIM:616975
HP:0001034	Hypermelanotic macule	2767	GNA11	ORPHA:1556
HP:0001034	Hypermelanotic macule	151188	ARL6IP6	ORPHA:1556
HP:0001034	Hypermelanotic macule	374969	SVBP	OMIM:618569
HP:0001033	Facial flushing after alcohol intake	217	ALDH2	OMIM:610251
HP:0001036	Parakeratosis	126410	CYP4F22	OMIM:604777
HP:0001036	Parakeratosis	4014	LORICRIN	OMIM:604117
HP:0001036	Parakeratosis	4014	LORICRIN	ORPHA:79395
HP:0001036	Parakeratosis	9076	CLDN1	OMIM:607626
HP:0001036	Parakeratosis	7051	TGM1	OMIM:242300
HP:0001036	Parakeratosis	7051	TGM1	ORPHA:100976
HP:0001036	Parakeratosis	388698	FLG2	OMIM:618084
HP:0001036	Parakeratosis	3939	LDHA	ORPHA:284426
HP:0001036	Parakeratosis	348938	NIPAL4	OMIM:612281
HP:0001036	Parakeratosis	3852	KRT5	ORPHA:158681
HP:0001036	Parakeratosis	50814	NSDHL	OMIM:308050
HP:0001036	Parakeratosis	64834	ELOVL1	OMIM:618527
HP:0001036	Parakeratosis	79651	RHBDF2	OMIM:148500
HP:0001036	Parakeratosis	1041	CDSN	ORPHA:90368
HP:0001036	Parakeratosis	121391	KRT74	ORPHA:90368
HP:0001036	Parakeratosis	79092	CARD14	OMIM:173200
HP:0001036	Parakeratosis	79092	CARD14	OMIM:602723
HP:0001036	Parakeratosis	26525	IL36RN	OMIM:614204
HP:0001036	Parakeratosis	2074	ERCC6	OMIM:278800
HP:0001036	Parakeratosis	51371	POMP	OMIM:601952
HP:0001036	Parakeratosis	54795	TRPM4	OMIM:618531
HP:0001036	Parakeratosis	162514	TRPV3	OMIM:614594
HP:0001036	Parakeratosis	4598	MVK	OMIM:175900
HP:0001036	Parakeratosis	10654	PMVK	OMIM:175800
HP:0001036	Parakeratosis	22861	NLRP1	OMIM:615225
HP:0001036	Parakeratosis	51360	MBTPS2	OMIM:300918
HP:0001036	Parakeratosis	11005	SPINK5	OMIM:256500
HP:0001036	Parakeratosis	488	ATP2A2	ORPHA:79151
HP:0001036	Parakeratosis	1832	DSP	OMIM:615821
HP:0001036	Parakeratosis	64065	PERP	OMIM:619208
HP:0001036	Parakeratosis	2744	GLS	OMIM:618339
HP:0001036	Parakeratosis	4597	MVD	OMIM:614714
HP:0001036	Parakeratosis	5290	PIK3CA	ORPHA:276280
HP:0001036	Parakeratosis	3860	KRT13	OMIM:615785
HP:0001036	Parakeratosis	3858	KRT10	OMIM:607602
HP:0011368	Epidermal thickening	9509	ADAMTS2	OMIM:225410
HP:0011368	Epidermal thickening	3767	KCNJ11	ORPHA:552
HP:0011368	Epidermal thickening	8462	KLF11	ORPHA:552
HP:0011368	Epidermal thickening	2645	GCK	ORPHA:552
HP:0011368	Epidermal thickening	26060	APPL1	ORPHA:552
HP:0011368	Epidermal thickening	640	BLK	ORPHA:552
HP:0011368	Epidermal thickening	1056	CEL	ORPHA:552
HP:0011368	Epidermal thickening	4760	NEUROD1	ORPHA:552
HP:0011368	Epidermal thickening	3651	PDX1	ORPHA:552
HP:0011368	Epidermal thickening	6833	ABCC8	ORPHA:552
HP:0011368	Epidermal thickening	5078	PAX4	ORPHA:552
HP:0011368	Epidermal thickening	3172	HNF4A	ORPHA:552
HP:0011368	Epidermal thickening	6927	HNF1A	ORPHA:552
HP:0011368	Epidermal thickening	3630	INS	ORPHA:552
HP:0011368	Epidermal thickening	699	BUB1	OMIM:620183
HP:0011368	Epidermal thickening	7840	ALMS1	ORPHA:64
HP:0011368	Epidermal thickening	7840	ALMS1	OMIM:203800
HP:0011368	Epidermal thickening	3643	INSR	OMIM:262190
HP:0011368	Epidermal thickening	3643	INSR	ORPHA:508
HP:0011368	Epidermal thickening	3643	INSR	OMIM:246200
HP:0011368	Epidermal thickening	3643	INSR	ORPHA:769
HP:0011368	Epidermal thickening	286053	NSMCE2	OMIM:617253
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:616482
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:612247
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:93274
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:93262
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:146000
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:85165
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:1860
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:15
HP:0011368	Epidermal thickening	26580	BSCL2	OMIM:269700
HP:0011368	Epidermal thickening	26580	BSCL2	ORPHA:363400
HP:0011368	Epidermal thickening	26580	BSCL2	ORPHA:528
HP:0011368	Epidermal thickening	5122	PCSK1	ORPHA:71528
HP:0011368	Epidermal thickening	4160	MC4R	ORPHA:71529
HP:0011368	Epidermal thickening	3991	LIPE	ORPHA:435660
HP:0011368	Epidermal thickening	3991	LIPE	OMIM:615980
HP:0011368	Epidermal thickening	3290	HSD11B1	OMIM:614662
HP:0011368	Epidermal thickening	91461	PKDCC	OMIM:618821
HP:0011368	Epidermal thickening	63924	CIDEC	OMIM:615238
HP:0011368	Epidermal thickening	63924	CIDEC	ORPHA:435651
HP:0011368	Epidermal thickening	5443	POMC	ORPHA:71526
HP:0011368	Epidermal thickening	857	CAV1	OMIM:612526
HP:0011368	Epidermal thickening	857	CAV1	ORPHA:528
HP:0011368	Epidermal thickening	857	CAV1	OMIM:606721
HP:0011368	Epidermal thickening	5189	PEX1	ORPHA:3220
HP:0011368	Epidermal thickening	5190	PEX6	ORPHA:3220
HP:0011368	Epidermal thickening	2099	ESR1	ORPHA:785
HP:0011368	Epidermal thickening	2099	ESR1	OMIM:615363
HP:0011368	Epidermal thickening	27125	AFF4	ORPHA:444077
HP:0011368	Epidermal thickening	5346	PLIN1	ORPHA:280356
HP:0011368	Epidermal thickening	5346	PLIN1	OMIM:613877
HP:0011368	Epidermal thickening	5468	PPARG	OMIM:604367
HP:0011368	Epidermal thickening	5468	PPARG	ORPHA:79083
HP:0011368	Epidermal thickening	5468	PPARG	ORPHA:528
HP:0011368	Epidermal thickening	3728	JUP	ORPHA:34217
HP:0011368	Epidermal thickening	2263	FGFR2	ORPHA:1555
HP:0011368	Epidermal thickening	2263	FGFR2	OMIM:123790
HP:0011368	Epidermal thickening	2263	FGFR2	ORPHA:207
HP:0011368	Epidermal thickening	8450	CUL4B	ORPHA:85293
HP:0011368	Epidermal thickening	4000	LMNA	OMIM:248370
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:280365
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:79084
HP:0011368	Epidermal thickening	4000	LMNA	OMIM:151660
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:2348
HP:0011368	Epidermal thickening	9076	CLDN1	ORPHA:59303
HP:0011368	Epidermal thickening	11128	POLR3A	ORPHA:3455
HP:0011368	Epidermal thickening	7030	TFE3	OMIM:301066
HP:0011368	Epidermal thickening	5692	PSMB4	OMIM:617591
HP:0011368	Epidermal thickening	5698	PSMB9	OMIM:617591
HP:0011368	Epidermal thickening	7518	XRCC4	OMIM:616541
HP:0011368	Epidermal thickening	6603	SMARCD2	OMIM:617475
HP:0011368	Epidermal thickening	1315	COPB1	OMIM:619255
HP:0011368	Epidermal thickening	64834	ELOVL1	OMIM:618527
HP:0011368	Epidermal thickening	208	AKT2	ORPHA:79085
HP:0011368	Epidermal thickening	2077	ERF	ORPHA:207
HP:0011368	Epidermal thickening	10555	AGPAT2	ORPHA:528
HP:0011368	Epidermal thickening	10555	AGPAT2	OMIM:608594
HP:0011368	Epidermal thickening	284119	CAVIN1	ORPHA:528
HP:0011368	Epidermal thickening	284119	CAVIN1	OMIM:613327
HP:0011368	Epidermal thickening	2353	FOS	ORPHA:528
HP:0011368	Epidermal thickening	83550	GPR101	ORPHA:963
HP:0011368	Epidermal thickening	83550	GPR101	OMIM:300942
HP:0011368	Epidermal thickening	9049	AIP	ORPHA:963
HP:0011368	Epidermal thickening	3265	HRAS	ORPHA:3071
HP:0011368	Epidermal thickening	3265	HRAS	OMIM:218040
HP:0011368	Epidermal thickening	5696	PSMB8	OMIM:256040
HP:0011368	Epidermal thickening	3720	JARID2	OMIM:620098
HP:0011368	Epidermal thickening	1588	CYP19A1	ORPHA:91
HP:0011368	Epidermal thickening	11005	SPINK5	ORPHA:634
HP:0011368	Epidermal thickening	8036	SHOC2	OMIM:607721
HP:0011368	Epidermal thickening	8216	LZTR1	OMIM:616564
HP:0011368	Epidermal thickening	8216	LZTR1	OMIM:605275
HP:0011368	Epidermal thickening	25923	ATL3	OMIM:615632
HP:0011368	Epidermal thickening	25923	ATL3	ORPHA:36386
HP:0011368	Epidermal thickening	100151683	RNU4ATAC	OMIM:210710
HP:0011368	Epidermal thickening	6016	RIT1	OMIM:615355
HP:0011368	Epidermal thickening	673	BRAF	OMIM:115150
HP:0011368	Epidermal thickening	673	BRAF	ORPHA:1340
HP:0011368	Epidermal thickening	673	BRAF	OMIM:613707
HP:0011368	Epidermal thickening	4254	KITLG	OMIM:145250
HP:0011368	Epidermal thickening	9526	MPDU1	OMIM:609180
HP:0011368	Epidermal thickening	79755	ZNF750	OMIM:610227
HP:0011368	Epidermal thickening	56983	POGLUT1	ORPHA:79145
HP:0011368	Epidermal thickening	23509	POFUT1	ORPHA:79145
HP:0011368	Epidermal thickening	55851	PSENEN	ORPHA:79145
HP:0011368	Epidermal thickening	8626	TP63	OMIM:604292
HP:0011368	Epidermal thickening	8626	TP63	ORPHA:1896
HP:0011368	Epidermal thickening	3106	HLA-B	ORPHA:29207
HP:0011368	Epidermal thickening	831	CAST	OMIM:616295
HP:0011368	Epidermal thickening	23586	RIGI	OMIM:616298
HP:0011368	Epidermal thickening	1294	COL7A1	ORPHA:89843
HP:0011368	Epidermal thickening	1294	COL7A1	OMIM:131850
HP:0011368	Epidermal thickening	5167	ENPP1	OMIM:615522
HP:0011368	Epidermal thickening	51360	MBTPS2	OMIM:300918
HP:0011368	Epidermal thickening	51360	MBTPS2	ORPHA:2273
HP:0011368	Epidermal thickening	51360	MBTPS2	OMIM:308205
HP:0011368	Epidermal thickening	63916	ELMO2	ORPHA:3019
HP:0011368	Epidermal thickening	4574	MT-TS1	ORPHA:2202
HP:0011368	Epidermal thickening	79644	SRD5A3	OMIM:612379
HP:0011368	Epidermal thickening	224	ALDH3A2	ORPHA:816
HP:0011368	Epidermal thickening	64065	PERP	OMIM:619208
HP:0011368	Epidermal thickening	4758	NEU1	ORPHA:812
HP:0011368	Epidermal thickening	55780	ERMARD	ORPHA:75857
HP:0011368	Epidermal thickening	27032	ATP2C1	ORPHA:2841
HP:0011368	Epidermal thickening	164656	TMPRSS6	ORPHA:209981
HP:0011368	Epidermal thickening	284058	KANSL1	ORPHA:363958
HP:0011368	Epidermal thickening	284058	KANSL1	ORPHA:363965
HP:0011368	Epidermal thickening	102	ADAM10	OMIM:615537
HP:0011368	Epidermal thickening	5604	MAP2K1	ORPHA:1340
HP:0011368	Epidermal thickening	5604	MAP2K1	OMIM:615279
HP:0011368	Epidermal thickening	5605	MAP2K2	ORPHA:1340
HP:0011368	Epidermal thickening	3845	KRAS	ORPHA:1340
HP:0011368	Epidermal thickening	22845	DOLK	OMIM:610768
HP:0011368	Epidermal thickening	2717	GLA	ORPHA:324
HP:0011368	Epidermal thickening	6898	TAT	ORPHA:28378
HP:0011368	Epidermal thickening	1475	CSTA	OMIM:607936
HP:0011368	Epidermal thickening	57511	COG6	OMIM:614576
HP:0011368	Epidermal thickening	23086	EXPH5	OMIM:615028
HP:0011368	Epidermal thickening	84818	IL17RC	ORPHA:1334
HP:0011368	Epidermal thickening	64581	CLEC7A	ORPHA:1334
HP:0011368	Epidermal thickening	23765	IL17RA	ORPHA:1334
HP:0011368	Epidermal thickening	10758	TRAF3IP2	ORPHA:1334
HP:0011368	Epidermal thickening	112744	IL17F	ORPHA:1334
HP:0011368	Epidermal thickening	1001	CDH3	ORPHA:1573
HP:0011368	Epidermal thickening	9487	PIGL	ORPHA:3474
HP:0011368	Epidermal thickening	643418	LIPN	ORPHA:313
HP:0011368	Epidermal thickening	643418	LIPN	OMIM:613943
HP:0011368	Epidermal thickening	121214	SDR9C7	ORPHA:313
HP:0011368	Epidermal thickening	121214	SDR9C7	OMIM:617574
HP:0011368	Epidermal thickening	10558	SPTLC1	ORPHA:36386
HP:0011368	Epidermal thickening	9517	SPTLC2	ORPHA:36386
HP:0011368	Epidermal thickening	51062	ATL1	ORPHA:36386
HP:0011368	Epidermal thickening	134218	DNAJC21	OMIM:617052
HP:0011368	Epidermal thickening	1041	CDSN	ORPHA:90368
HP:0011368	Epidermal thickening	121391	KRT74	ORPHA:90368
HP:0011368	Epidermal thickening	10013	HDAC6	ORPHA:163966
HP:0011368	Epidermal thickening	7486	WRN	ORPHA:902
HP:0011368	Epidermal thickening	5184	PEPD	ORPHA:742
HP:0011368	Epidermal thickening	8517	IKBKG	ORPHA:464
HP:0011368	Epidermal thickening	8517	IKBKG	OMIM:308300
HP:0011368	Epidermal thickening	2312	FLG	ORPHA:461
HP:0011368	Epidermal thickening	5159	PDGFRB	OMIM:601812
HP:0011368	Epidermal thickening	207	AKT1	OMIM:176920
HP:0011368	Epidermal thickening	3557	IL1RN	OMIM:612852
HP:0011368	Epidermal thickening	10654	PMVK	ORPHA:735
HP:0011368	Epidermal thickening	4598	MVK	ORPHA:735
HP:0011368	Epidermal thickening	57165	GJC2	ORPHA:79452
HP:0011368	Epidermal thickening	1303	COL12A1	ORPHA:610
HP:0011368	Epidermal thickening	1291	COL6A1	ORPHA:610
HP:0011368	Epidermal thickening	1292	COL6A2	ORPHA:610
HP:0011368	Epidermal thickening	1293	COL6A3	ORPHA:610
HP:0011368	Epidermal thickening	1893	ECM1	ORPHA:530
HP:0011368	Epidermal thickening	1893	ECM1	OMIM:247100
HP:0011368	Epidermal thickening	57609	DIP2B	OMIM:136630
HP:0011368	Epidermal thickening	5422	POLA1	OMIM:301220
HP:0011368	Epidermal thickening	55612	FERMT1	ORPHA:2908
HP:0011368	Epidermal thickening	3889	KRT83	OMIM:617756
HP:0011368	Epidermal thickening	79977	GRHL2	OMIM:616029
HP:0011368	Epidermal thickening	4668	NAGA	ORPHA:79280
HP:0011368	Epidermal thickening	4668	NAGA	OMIM:609242
HP:0011368	Epidermal thickening	4668	NAGA	ORPHA:79279
HP:0011368	Epidermal thickening	5271	SERPINB8	OMIM:617115
HP:0011368	Epidermal thickening	79092	CARD14	OMIM:602723
HP:0011368	Epidermal thickening	162	AP1B1	ORPHA:171851
HP:0011368	Epidermal thickening	1174	AP1S1	ORPHA:171851
HP:0011368	Epidermal thickening	2744	GLS	OMIM:618339
HP:0011368	Epidermal thickening	29969	MDFIC	OMIM:620014
HP:0011368	Epidermal thickening	1493	CTLA4	ORPHA:2584
HP:0011368	Epidermal thickening	940	CD28	ORPHA:2584
HP:0011368	Epidermal thickening	7133	TNFRSF1B	ORPHA:2584
HP:0011368	Epidermal thickening	7299	TYR	ORPHA:79431
HP:0011368	Epidermal thickening	7507	XPA	ORPHA:910
HP:0011368	Epidermal thickening	7508	XPC	ORPHA:910
HP:0011368	Epidermal thickening	1643	DDB2	ORPHA:910
HP:0011368	Epidermal thickening	2072	ERCC4	ORPHA:910
HP:0011368	Epidermal thickening	2073	ERCC5	ORPHA:910
HP:0011368	Epidermal thickening	7424	VEGFC	OMIM:615907
HP:0011368	Epidermal thickening	5317	PKP1	OMIM:604536
HP:0011368	Epidermal thickening	55651	NHP2	OMIM:224230
HP:0011368	Epidermal thickening	55505	NOP10	OMIM:224230
HP:0011368	Epidermal thickening	1075	CTSC	OMIM:170650
HP:0011368	Epidermal thickening	1075	CTSC	OMIM:245000
HP:0011368	Epidermal thickening	1075	CTSC	ORPHA:678
HP:0011368	Epidermal thickening	3248	HPGD	OMIM:259100
HP:0011368	Epidermal thickening	10651	MTX2	OMIM:619127
HP:0011368	Epidermal thickening	5818	NECTIN1	ORPHA:3253
HP:0011368	Epidermal thickening	5818	NECTIN1	OMIM:225060
HP:0011368	Epidermal thickening	7015	TERT	OMIM:613989
HP:0011368	Epidermal thickening	9896	FIG4	OMIM:216340
HP:0011368	Epidermal thickening	7286	TUFT1	OMIM:607655
HP:0011368	Epidermal thickening	667	DST	OMIM:615425
HP:0011368	Epidermal thickening	9015	TAF1A	ORPHA:154
HP:0011368	Epidermal thickening	5663	PSEN1	ORPHA:154
HP:0011368	Epidermal thickening	6389	SDHA	ORPHA:154
HP:0011368	Epidermal thickening	7112	TMPO	ORPHA:154
HP:0011368	Epidermal thickening	9464	HAND2	ORPHA:154
HP:0011368	Epidermal thickening	4625	MYH7	ORPHA:154
HP:0011368	Epidermal thickening	88	ACTN2	ORPHA:154
HP:0011368	Epidermal thickening	10486	CAP2	ORPHA:154
HP:0011368	Epidermal thickening	10060	ABCC9	ORPHA:154
HP:0011368	Epidermal thickening	7168	TPM1	ORPHA:154
HP:0011368	Epidermal thickening	7414	VCL	ORPHA:154
HP:0011368	Epidermal thickening	70	ACTC1	ORPHA:154
HP:0011368	Epidermal thickening	27063	ANKRD1	ORPHA:154
HP:0011368	Epidermal thickening	8048	CSRP3	ORPHA:154
HP:0011368	Epidermal thickening	1410	CRYAB	ORPHA:154
HP:0011368	Epidermal thickening	7139	TNNT2	ORPHA:154
HP:0011368	Epidermal thickening	1829	DSG2	ORPHA:154
HP:0011368	Epidermal thickening	3910	LAMA4	ORPHA:154
HP:0011368	Epidermal thickening	63976	PRDM16	ORPHA:154
HP:0011368	Epidermal thickening	7273	TTN	ORPHA:154
HP:0011368	Epidermal thickening	10587	TXNRD2	ORPHA:154
HP:0011368	Epidermal thickening	9531	BAG3	ORPHA:154
HP:0011368	Epidermal thickening	5350	PLN	ORPHA:154
HP:0011368	Epidermal thickening	91624	NEXN	ORPHA:154
HP:0011368	Epidermal thickening	79717	PPCS	ORPHA:154
HP:0011368	Epidermal thickening	5664	PSEN2	ORPHA:154
HP:0011368	Epidermal thickening	4624	MYH6	ORPHA:154
HP:0011368	Epidermal thickening	9529	BAG5	ORPHA:154
HP:0011368	Epidermal thickening	4607	MYBPC3	ORPHA:154
HP:0011368	Epidermal thickening	282996	RBM20	ORPHA:154
HP:0011368	Epidermal thickening	7137	TNNI3	ORPHA:154
HP:0011368	Epidermal thickening	11155	LDB3	ORPHA:154
HP:0011368	Epidermal thickening	2274	FHL2	ORPHA:154
HP:0011368	Epidermal thickening	6901	TAFAZZIN	ORPHA:154
HP:0011368	Epidermal thickening	5894	RAF1	ORPHA:154
HP:0011368	Epidermal thickening	1756	DMD	ORPHA:154
HP:0011368	Epidermal thickening	57798	GATAD1	ORPHA:154
HP:0011368	Epidermal thickening	7134	TNNC1	ORPHA:154
HP:0011368	Epidermal thickening	84665	MYPN	ORPHA:154
HP:0011368	Epidermal thickening	1674	DES	ORPHA:154
HP:0011368	Epidermal thickening	6444	SGCD	ORPHA:154
HP:0011368	Epidermal thickening	6331	SCN5A	ORPHA:154
HP:0011368	Epidermal thickening	2218	FKTN	ORPHA:154
HP:0011368	Epidermal thickening	8557	TCAP	ORPHA:154
HP:0011368	Epidermal thickening	1308	COL17A1	ORPHA:79406
HP:0011368	Epidermal thickening	1308	COL17A1	ORPHA:79402
HP:0011368	Epidermal thickening	4312	MMP1	ORPHA:79408
HP:0011368	Epidermal thickening	1824	DSC2	OMIM:610476
HP:0011368	Epidermal thickening	6578	SLCO2A1	ORPHA:2796
HP:0011368	Epidermal thickening	3909	LAMA3	ORPHA:79402
HP:0011368	Epidermal thickening	3918	LAMC2	ORPHA:79402
HP:0011368	Epidermal thickening	3691	ITGB4	ORPHA:79402
HP:0011368	Epidermal thickening	23328	SASH1	OMIM:618373
HP:0011368	Epidermal thickening	1474	CST6	OMIM:618535
HP:0011368	Epidermal thickening	25959	KANK2	OMIM:616099
HP:0011368	Epidermal thickening	57192	MCOLN1	ORPHA:578
HP:0011368	Epidermal thickening	23592	LEMD3	ORPHA:1306
HP:0011368	Epidermal thickening	80169	CTC1	ORPHA:1775
HP:0011368	Epidermal thickening	26277	TINF2	ORPHA:1775
HP:0011368	Epidermal thickening	55135	WRAP53	ORPHA:1775
HP:0011368	Epidermal thickening	51750	RTEL1	ORPHA:1775
HP:0011368	Epidermal thickening	4869	NPM1	ORPHA:1775
HP:0011368	Epidermal thickening	7012	TERC	ORPHA:1775
HP:0011368	Epidermal thickening	5073	PARN	ORPHA:1775
HP:0011368	Epidermal thickening	1736	DKC1	ORPHA:1775
HP:0011368	Epidermal thickening	7298	TYMS	ORPHA:1775
HP:0011368	Epidermal thickening	388698	FLG2	OMIM:618084
HP:0011368	Epidermal thickening	3939	LDHA	ORPHA:284426
HP:0011368	Epidermal thickening	26525	IL36RN	OMIM:614204
HP:0011368	Epidermal thickening	2074	ERCC6	OMIM:278800
HP:0011368	Epidermal thickening	54795	TRPM4	OMIM:618531
HP:0011368	Epidermal thickening	22861	NLRP1	OMIM:615225
HP:0011368	Epidermal thickening	4597	MVD	OMIM:614714
HP:0011368	Epidermal thickening	162514	TRPV3	OMIM:616400
HP:0011368	Epidermal thickening	1832	DSP	ORPHA:65282
HP:0011368	Epidermal thickening	2697	GJA1	ORPHA:317
HP:0011368	Epidermal thickening	2707	GJB3	ORPHA:317
HP:0011368	Epidermal thickening	2707	GJB3	OMIM:133200
HP:0011368	Epidermal thickening	2531	KDSR	ORPHA:317
HP:0011368	Epidermal thickening	127534	GJB4	ORPHA:317
HP:0011368	Epidermal thickening	10483	SEC23B	ORPHA:201
HP:0011368	Epidermal thickening	6390	SDHB	ORPHA:201
HP:0011368	Epidermal thickening	6392	SDHD	ORPHA:201
HP:0011368	Epidermal thickening	6391	SDHC	ORPHA:201
HP:0011368	Epidermal thickening	205717	USF3	ORPHA:201
HP:0011368	Epidermal thickening	5290	PIK3CA	ORPHA:201
HP:0011368	Epidermal thickening	100144748	KLLN	ORPHA:201
HP:0011368	Epidermal thickening	10269	ZMPSTE24	ORPHA:1662
HP:0011368	Epidermal thickening	2517	FUCA1	ORPHA:349
HP:0011368	Epidermal thickening	242	ALOX12B	OMIM:242100
HP:0011368	Epidermal thickening	59344	ALOXE3	OMIM:242100
HP:0011368	Epidermal thickening	6768	ST14	OMIM:602400
HP:0011368	Epidermal thickening	50814	NSDHL	OMIM:308050
HP:0011368	Epidermal thickening	10682	EBP	OMIM:302960
HP:0011368	Epidermal thickening	7051	TGM1	OMIM:242300
HP:0011368	Epidermal thickening	10804	GJB6	ORPHA:477
HP:0011368	Epidermal thickening	2706	GJB2	ORPHA:477
HP:0011368	Epidermal thickening	26154	ABCA12	OMIM:242500
HP:0011368	Epidermal thickening	26154	ABCA12	ORPHA:457
HP:0011368	Epidermal thickening	404672	GTF2H5	OMIM:616395
HP:0011368	Epidermal thickening	412	STS	OMIM:308100
HP:0011368	Epidermal thickening	362	AQP5	OMIM:600231
HP:0011368	Epidermal thickening	362	AQP5	ORPHA:2337
HP:0011368	Epidermal thickening	57152	SLURP1	ORPHA:86923
HP:0011368	Epidermal thickening	145264	SERPINA12	ORPHA:86923
HP:0011368	Epidermal thickening	54800	KLHL24	OMIM:617294
HP:0011368	Epidermal thickening	9342	SNAP29	ORPHA:66631
HP:0011368	Epidermal thickening	79651	RHBDF2	OMIM:148500
HP:0011368	Epidermal thickening	2324	FLT4	OMIM:153100
HP:0011368	Epidermal thickening	3887	KRT81	OMIM:158000
HP:0011368	Epidermal thickening	3892	KRT86	OMIM:158000
HP:0011368	Epidermal thickening	3122	HLA-DRA	ORPHA:505
HP:0011368	Epidermal thickening	3858	KRT10	ORPHA:312
HP:0011368	Epidermal thickening	3858	KRT10	OMIM:607602
HP:0011368	Epidermal thickening	3849	KRT2	OMIM:146800
HP:0011368	Epidermal thickening	126410	CYP4F22	OMIM:604777
HP:0011368	Epidermal thickening	6820	SULT2B1	OMIM:617571
HP:0011368	Epidermal thickening	348938	NIPAL4	OMIM:612281
HP:0011368	Epidermal thickening	2629	GBA1	ORPHA:85212
HP:0011368	Epidermal thickening	2629	GBA1	OMIM:608013
HP:0011368	Epidermal thickening	51099	ABHD5	ORPHA:98907
HP:0011368	Epidermal thickening	51099	ABHD5	OMIM:275630
HP:0011368	Epidermal thickening	6897	TARS1	OMIM:618546
HP:0011368	Epidermal thickening	51371	POMP	OMIM:601952
HP:0011368	Epidermal thickening	2071	ERCC3	OMIM:616390
HP:0011368	Epidermal thickening	2068	ERCC2	OMIM:601675
HP:0011368	Epidermal thickening	204219	CERS3	OMIM:615023
HP:0011368	Epidermal thickening	285848	PNPLA1	OMIM:615024
HP:0011368	Epidermal thickening	151516	ASPRV1	OMIM:146750
HP:0011368	Epidermal thickening	6785	ELOVL4	OMIM:614457
HP:0011368	Epidermal thickening	4014	LORICRIN	ORPHA:79395
HP:0011368	Epidermal thickening	147409	DSG4	ORPHA:573
HP:0011368	Epidermal thickening	147409	DSG4	OMIM:607903
HP:0011368	Epidermal thickening	5351	PLOD1	OMIM:225400
HP:0011368	Epidermal thickening	55033	FKBP14	ORPHA:300179
HP:0011368	Epidermal thickening	55033	FKBP14	OMIM:614557
HP:0011368	Epidermal thickening	4035	LRP1	ORPHA:79100
HP:0011368	Epidermal thickening	10999	SLC27A4	OMIM:608649
HP:0011368	Epidermal thickening	9325	TRIP4	OMIM:617066
HP:0011368	Epidermal thickening	9325	TRIP4	ORPHA:486815
HP:0011368	Epidermal thickening	4921	DDR2	OMIM:618175
HP:0011368	Epidermal thickening	5950	RBP4	OMIM:615147
HP:0011368	Epidermal thickening	1825	DSC3	OMIM:613102
HP:0011368	Epidermal thickening	26227	PHGDH	ORPHA:79351
HP:0011368	Epidermal thickening	54345	SOX18	OMIM:137940
HP:0011368	Epidermal thickening	26276	VPS33B	OMIM:620009
HP:0011368	Epidermal thickening	5339	PLEC	OMIM:616487
HP:0011368	Epidermal thickening	3914	LAMB3	OMIM:226650
HP:0011368	Epidermal thickening	9401	RECQL4	ORPHA:221016
HP:0011368	Epidermal thickening	286887	KRT6C	OMIM:615735
HP:0011368	Epidermal thickening	29926	GMPPA	ORPHA:869
HP:0011368	Epidermal thickening	60684	TRAPPC11	ORPHA:869
HP:0011368	Epidermal thickening	8086	AAAS	ORPHA:869
HP:0011368	Epidermal thickening	79650	USB1	OMIM:604173
HP:0011368	Epidermal thickening	64682	ANAPC1	ORPHA:221008
HP:0011368	Epidermal thickening	4047	LSS	ORPHA:2850
HP:0011368	Epidermal thickening	4047	LSS	OMIM:618840
HP:0011368	Epidermal thickening	197	AHSG	ORPHA:2850
HP:0011368	Epidermal thickening	3694	ITGB6	ORPHA:2850
HP:0011368	Epidermal thickening	1120	CHKB	OMIM:602541
HP:0011368	Epidermal thickening	57104	PNPLA2	ORPHA:565612
HP:0011368	Epidermal thickening	57104	PNPLA2	OMIM:610717
HP:0011368	Epidermal thickening	57104	PNPLA2	ORPHA:98908
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:266500
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:215100
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:614879
HP:0011368	Epidermal thickening	5191	PEX7	ORPHA:773
HP:0011368	Epidermal thickening	5264	PHYH	OMIM:266500
HP:0011368	Epidermal thickening	5264	PHYH	ORPHA:773
HP:0011368	Epidermal thickening	128486	FITM2	OMIM:618635
HP:0011368	Epidermal thickening	1287	COL4A5	OMIM:301050
HP:0011368	Epidermal thickening	9837	GINS1	OMIM:617827
HP:0011368	Epidermal thickening	79631	EFL1	ORPHA:811
HP:0011368	Epidermal thickening	51119	SBDS	ORPHA:811
HP:0011368	Epidermal thickening	6729	SRP54	ORPHA:811
HP:0011368	Epidermal thickening	114548	NLRP3	ORPHA:575
HP:0011368	Epidermal thickening	54453	RIN2	OMIM:613075
HP:0011368	Epidermal thickening	4141	MARS1	OMIM:619692
HP:0011368	Epidermal thickening	29968	PSAT1	ORPHA:284417
HP:0011368	Epidermal thickening	29968	PSAT1	OMIM:616038
HP:0011368	Epidermal thickening	5277	PIGA	OMIM:300868
HP:0011368	Epidermal thickening	5277	PIGA	OMIM:301072
HP:0011368	Epidermal thickening	146206	CARMIL2	OMIM:618131
HP:0011368	Epidermal thickening	3560	IL2RB	OMIM:618495
HP:0011368	Epidermal thickening	2783	GNB2	OMIM:619503
HP:0011368	Epidermal thickening	63894	VIPAS39	OMIM:613404
HP:0011368	Epidermal thickening	8879	SGPL1	OMIM:617575
HP:0011368	Epidermal thickening	91754	NEK9	ORPHA:64754
HP:0011368	Epidermal thickening	4893	NRAS	OMIM:163200
HP:0011368	Epidermal thickening	285362	SUMF1	OMIM:272200
HP:0011368	Epidermal thickening	285362	SUMF1	ORPHA:585
HP:0011368	Epidermal thickening	10283	CWC27	ORPHA:166035
HP:0011368	Epidermal thickening	6786	STIM1	OMIM:185070
HP:0011368	Epidermal thickening	6786	STIM1	ORPHA:3204
HP:0011368	Epidermal thickening	55670	PEX26	ORPHA:772
HP:0011368	Epidermal thickening	5824	PEX19	ORPHA:772
HP:0011368	Epidermal thickening	5828	PEX2	ORPHA:772
HP:0011368	Epidermal thickening	8504	PEX3	ORPHA:772
HP:0011368	Epidermal thickening	9409	PEX16	ORPHA:772
HP:0011368	Epidermal thickening	8799	PEX11B	ORPHA:772
HP:0011368	Epidermal thickening	5830	PEX5	ORPHA:772
HP:0011368	Epidermal thickening	5193	PEX12	ORPHA:772
HP:0011368	Epidermal thickening	5194	PEX13	ORPHA:772
HP:0011368	Epidermal thickening	5195	PEX14	ORPHA:772
HP:0011368	Epidermal thickening	5192	PEX10	ORPHA:772
HP:0011368	Epidermal thickening	415	ARSL	OMIM:302950
HP:0011368	Epidermal thickening	2961	GTF2E2	OMIM:616943
HP:0011368	Epidermal thickening	2961	GTF2E2	ORPHA:33364
HP:0011368	Epidermal thickening	833	CARS1	ORPHA:33364
HP:0011368	Epidermal thickening	7737	RNF113A	ORPHA:33364
HP:0011368	Epidermal thickening	136647	MPLKIP	ORPHA:33364
HP:0011368	Epidermal thickening	64127	NOD2	ORPHA:90340
HP:0011368	Epidermal thickening	2273	FHL1	ORPHA:98863
HP:0011368	Epidermal thickening	2010	EMD	ORPHA:98863
HP:0011368	Epidermal thickening	84876	ORAI1	ORPHA:3204
HP:0011368	Epidermal thickening	9333	TGM5	ORPHA:263534
HP:0011368	Epidermal thickening	6595	SMARCA2	OMIM:601358
HP:0011368	Epidermal thickening	55315	SLC29A3	ORPHA:168569
HP:0011368	Epidermal thickening	6307	MSMO1	OMIM:616834
HP:0011368	Epidermal thickening	2260	FGFR1	ORPHA:478
HP:0011368	Epidermal thickening	10371	SEMA3A	ORPHA:478
HP:0011368	Epidermal thickening	81848	SPRY4	ORPHA:478
HP:0011368	Epidermal thickening	23767	FLRT3	ORPHA:478
HP:0011368	Epidermal thickening	128674	PROKR2	ORPHA:478
HP:0011368	Epidermal thickening	79625	NDNF	ORPHA:478
HP:0011368	Epidermal thickening	2253	FGF8	ORPHA:478
HP:0011368	Epidermal thickening	389549	FEZF1	ORPHA:478
HP:0011368	Epidermal thickening	1630	DCC	ORPHA:478
HP:0011368	Epidermal thickening	3730	ANOS1	ORPHA:478
HP:0011368	Epidermal thickening	54756	IL17RD	ORPHA:478
HP:0011368	Epidermal thickening	6663	SOX10	ORPHA:478
HP:0011368	Epidermal thickening	285025	CCDC141	ORPHA:478
HP:0011368	Epidermal thickening	60675	PROK2	ORPHA:478
HP:0011368	Epidermal thickening	55636	CHD7	ORPHA:478
HP:0011368	Epidermal thickening	1848	DUSP6	ORPHA:478
HP:0011368	Epidermal thickening	6870	TACR3	ORPHA:478
HP:0011368	Epidermal thickening	55717	WDR11	ORPHA:478
HP:0011368	Epidermal thickening	9394	HS6ST1	ORPHA:478
HP:0011368	Epidermal thickening	8820	HESX1	ORPHA:478
HP:0011368	Epidermal thickening	8822	FGF17	ORPHA:478
HP:0011368	Epidermal thickening	79188	TMEM43	ORPHA:98853
HP:0011368	Epidermal thickening	23345	SYNE1	ORPHA:98853
HP:0011368	Epidermal thickening	23224	SYNE2	ORPHA:98853
HP:0011368	Epidermal thickening	56916	SMARCAD1	OMIM:136000
HP:0011368	Epidermal thickening	55906	ZC4H2	OMIM:314580
HP:0011368	Epidermal thickening	80326	WNT10A	OMIM:150400
HP:0011368	Epidermal thickening	81607	NECTIN4	OMIM:613573
HP:0011368	Epidermal thickening	3868	KRT16	ORPHA:2199
HP:0011368	Epidermal thickening	3868	KRT16	ORPHA:2309
HP:0011368	Epidermal thickening	3857	KRT9	ORPHA:2199
HP:0011368	Epidermal thickening	3857	KRT9	OMIM:144200
HP:0011368	Epidermal thickening	3848	KRT1	ORPHA:2199
HP:0011368	Epidermal thickening	3852	KRT5	ORPHA:79397
HP:0011368	Epidermal thickening	3852	KRT5	ORPHA:79399
HP:0011368	Epidermal thickening	3852	KRT5	ORPHA:79400
HP:0011368	Epidermal thickening	3861	KRT14	ORPHA:79397
HP:0011368	Epidermal thickening	3861	KRT14	ORPHA:79399
HP:0011368	Epidermal thickening	3861	KRT14	ORPHA:79400
HP:0011368	Epidermal thickening	3853	KRT6A	OMIM:615726
HP:0011368	Epidermal thickening	3853	KRT6A	ORPHA:2309
HP:0011368	Epidermal thickening	3872	KRT17	ORPHA:2309
HP:0011368	Epidermal thickening	3854	KRT6B	ORPHA:2309
HP:0011368	Epidermal thickening	1080	CFTR	ORPHA:498359
HP:0011368	Epidermal thickening	8710	SERPINB7	OMIM:615598
HP:0011368	Epidermal thickening	284654	RSPO1	OMIM:610644
HP:0011368	Epidermal thickening	1828	DSG1	OMIM:148700
HP:0011368	Epidermal thickening	2050	EPHB4	ORPHA:90186
HP:0011368	Epidermal thickening	6720	SREBF1	OMIM:619016
HP:0011368	Epidermal thickening	3860	KRT13	OMIM:615785
HP:0011368	Epidermal thickening	126695	KDF1	OMIM:617337
HP:0011368	Epidermal thickening	79719	AAGAB	OMIM:148600
HP:0011368	Epidermal thickening	79719	AAGAB	ORPHA:79501
HP:0011368	Epidermal thickening	7373	COL14A1	ORPHA:79501
HP:0011368	Epidermal thickening	488	ATP2A2	OMIM:101900
HP:0011368	Epidermal thickening	488	ATP2A2	ORPHA:218
HP:0011368	Epidermal thickening	488	ATP2A2	OMIM:124200
HP:0011368	Epidermal thickening	5728	PTEN	OMIM:158350
HP:0011368	Epidermal thickening	5728	PTEN	ORPHA:65285
HP:0011368	Epidermal thickening	84946	LTV1	OMIM:620199
HP:0011368	Epidermal thickening	267010	RNU12	OMIM:603116
HP:0011368	Epidermal thickening	63910	SLC17A9	OMIM:616063
HP:0011368	Epidermal thickening	63910	SLC17A9	ORPHA:79152
HP:0011368	Epidermal thickening	2224	FDPS	OMIM:616631
HP:0011368	Epidermal thickening	2224	FDPS	ORPHA:79152
HP:0001032	Absent distal interphalangeal creases	7169	TPM2	OMIM:108120
HP:0001032	Absent distal interphalangeal creases	4010	LMX1B	OMIM:161200
HP:0001032	Absent distal interphalangeal creases	3549	IHH	OMIM:112500
HP:0001032	Absent distal interphalangeal creases	3239	HOXD13	OMIM:186300
HP:0001032	Absent distal interphalangeal creases	11011	TLK2	OMIM:618050
HP:0001032	Absent distal interphalangeal creases	5932	RBBP8	OMIM:251255
HP:0001038	Warfarin-induced skin necrosis	5624	PROC	OMIM:176860
HP:0001038	Warfarin-induced skin necrosis	5624	PROC	ORPHA:745
HP:0001038	Warfarin-induced skin necrosis	5627	PROS1	OMIM:612336
HP:0001039	Atheroeruptive xanthoma	116519	APOA5	OMIM:145750
HP:0011251	Underdeveloped antitragus	284252	KCTD1	OMIM:181270
HP:0011251	Underdeveloped antitragus	284252	KCTD1	ORPHA:2036
HP:0011255	Absent crus of helix	26123	TCTN3	ORPHA:2753
HP:0008200	Primary hyperparathyroidism	4221	MEN1	ORPHA:652
HP:0008200	Primary hyperparathyroidism	4221	MEN1	ORPHA:99879
HP:0008200	Primary hyperparathyroidism	4221	MEN1	ORPHA:97279
HP:0008200	Primary hyperparathyroidism	1027	CDKN1B	ORPHA:652
HP:0008200	Primary hyperparathyroidism	1027	CDKN1B	OMIM:610755
HP:0008200	Primary hyperparathyroidism	1026	CDKN1A	ORPHA:652
HP:0008200	Primary hyperparathyroidism	1030	CDKN2B	ORPHA:652
HP:0008200	Primary hyperparathyroidism	1031	CDKN2C	ORPHA:652
HP:0008200	Primary hyperparathyroidism	79577	CDC73	ORPHA:143
HP:0008200	Primary hyperparathyroidism	79577	CDC73	ORPHA:99880
HP:0008200	Primary hyperparathyroidism	79577	CDC73	OMIM:145000
HP:0008200	Primary hyperparathyroidism	79577	CDC73	ORPHA:99879
HP:0008200	Primary hyperparathyroidism	1175	AP2S1	OMIM:600740
HP:0008200	Primary hyperparathyroidism	9247	GCM2	OMIM:617343
HP:0008200	Primary hyperparathyroidism	9247	GCM2	ORPHA:99879
HP:0008200	Primary hyperparathyroidism	79798	ARMC5	ORPHA:189427
HP:0008200	Primary hyperparathyroidism	2778	GNAS	ORPHA:189427
HP:0008200	Primary hyperparathyroidism	2767	GNA11	OMIM:145981
HP:0008200	Primary hyperparathyroidism	7528	YY1	ORPHA:97279
HP:0008200	Primary hyperparathyroidism	846	CASR	OMIM:239200
HP:0001040	Multiple pterygia	4621	MYH3	OMIM:178110
HP:0001040	Multiple pterygia	4621	MYH3	ORPHA:2990
HP:0001040	Multiple pterygia	1146	CHRNG	OMIM:253290
HP:0001040	Multiple pterygia	1146	CHRNG	ORPHA:2990
HP:0001040	Multiple pterygia	1144	CHRND	OMIM:253290
HP:0001040	Multiple pterygia	1134	CHRNA1	OMIM:253290
HP:0001041	Facial erythema	51360	MBTPS2	OMIM:308800
HP:0001041	Facial erythema	399	RHOH	OMIM:618307
HP:0001041	Facial erythema	9401	RECQL4	ORPHA:221016
HP:0001041	Facial erythema	641	BLM	OMIM:210900
HP:0001041	Facial erythema	3785	KCNQ2	ORPHA:439218
HP:0001041	Facial erythema	2783	GNB2	OMIM:619503
HP:0001041	Facial erythema	9049	AIP	OMIM:219090
HP:0001041	Facial erythema	9101	USP8	OMIM:219090
HP:0001041	Facial erythema	2697	GJA1	ORPHA:1010
HP:0001041	Facial erythema	30817	ADGRE2	OMIM:125630
HP:0001041	Facial erythema	64682	ANAPC1	ORPHA:221008
HP:0100790	Hernia	8036	SHOC2	OMIM:607721
HP:0100790	Hernia	23394	ADNP	ORPHA:404448
HP:0100790	Hernia	8425	LTBP4	OMIM:613177
HP:0100790	Hernia	268	AMH	ORPHA:2856
HP:0100790	Hernia	268	AMH	OMIM:261550
HP:0100790	Hernia	269	AMHR2	ORPHA:2856
HP:0100790	Hernia	269	AMHR2	OMIM:261550
HP:0100790	Hernia	81857	MED25	OMIM:616449
HP:0100790	Hernia	81857	MED25	ORPHA:464738
HP:0100790	Hernia	64220	STRA6	OMIM:601186
HP:0100790	Hernia	64412	GZF1	OMIM:617662
HP:0100790	Hernia	477	ATP1A2	OMIM:619602
HP:0100790	Hernia	129563	DIS3L2	ORPHA:2849
HP:0100790	Hernia	79158	GNPTAB	OMIM:252500
HP:0100790	Hernia	79158	GNPTAB	ORPHA:576
HP:0100790	Hernia	64175	P3H1	OMIM:610915
HP:0100790	Hernia	57589	RIC1	OMIM:618761
HP:0100790	Hernia	29940	DSE	ORPHA:2953
HP:0100790	Hernia	29940	DSE	OMIM:615539
HP:0100790	Hernia	23545	ATP6V0A2	ORPHA:2834
HP:0100790	Hernia	23545	ATP6V0A2	OMIM:278250
HP:0100790	Hernia	23545	ATP6V0A2	OMIM:219200
HP:0100790	Hernia	23545	ATP6V0A2	ORPHA:357074
HP:0100790	Hernia	4853	NOTCH2	OMIM:102500
HP:0100790	Hernia	4853	NOTCH2	ORPHA:955
HP:0100790	Hernia	3423	IDS	ORPHA:217085
HP:0100790	Hernia	3423	IDS	OMIM:309900
HP:0100790	Hernia	3423	IDS	ORPHA:217093
HP:0100790	Hernia	1183	CLCN4	ORPHA:485350
HP:0100790	Hernia	64359	NXN	ORPHA:1507
HP:0100790	Hernia	4920	ROR2	ORPHA:1507
HP:0100790	Hernia	4920	ROR2	OMIM:268310
HP:0100790	Hernia	8626	TP63	ORPHA:93930
HP:0100790	Hernia	3670	ISL1	ORPHA:93930
HP:0100790	Hernia	1281	COL3A1	ORPHA:286
HP:0100790	Hernia	1281	COL3A1	OMIM:130050
HP:0100790	Hernia	23347	SMCHD1	OMIM:603457
HP:0100790	Hernia	23347	SMCHD1	ORPHA:2250
HP:0100790	Hernia	6926	TBX3	OMIM:181450
HP:0100790	Hernia	22872	SEC31A	OMIM:618651
HP:0100790	Hernia	54968	TMEM70	OMIM:614052
HP:0100790	Hernia	11107	PRDM5	OMIM:614170
HP:0100790	Hernia	1656	DDX6	OMIM:618653
HP:0100790	Hernia	1501	CTNND2	ORPHA:281
HP:0100790	Hernia	9037	SEMA5A	ORPHA:281
HP:0100790	Hernia	84314	TMEM107	OMIM:617563
HP:0100790	Hernia	2783	GNB2	OMIM:619503
HP:0100790	Hernia	5337	PLD1	OMIM:212093
HP:0100790	Hernia	339983	NAT8L	OMIM:614063
HP:0100790	Hernia	54914	FOCAD	OMIM:619991
HP:0100790	Hernia	5048	PAFAH1B1	ORPHA:217385
HP:0100790	Hernia	7531	YWHAE	ORPHA:217385
HP:0100790	Hernia	9091	PIGQ	OMIM:618548
HP:0100790	Hernia	6134	RPL10	ORPHA:459070
HP:0100790	Hernia	6134	RPL10	OMIM:300998
HP:0100790	Hernia	2990	GUSB	ORPHA:584
HP:0100790	Hernia	9158	FIBP	OMIM:617107
HP:0100790	Hernia	9158	FIBP	ORPHA:500095
HP:0100790	Hernia	2542	SLC37A4	OMIM:619525
HP:0100790	Hernia	9993	DGCR2	OMIM:192430
HP:0100790	Hernia	8220	ESS2	OMIM:192430
HP:0100790	Hernia	8214	DGCR6	OMIM:192430
HP:0100790	Hernia	54487	DGCR8	OMIM:192430
HP:0100790	Hernia	6899	TBX1	OMIM:192430
HP:0100790	Hernia	6899	TBX1	ORPHA:567
HP:0100790	Hernia	6899	TBX1	OMIM:188400
HP:0100790	Hernia	4621	MYH3	OMIM:178110
HP:0100790	Hernia	4621	MYH3	OMIM:193700
HP:0100790	Hernia	4621	MYH3	ORPHA:2990
HP:0100790	Hernia	2239	GPC4	ORPHA:373
HP:0100790	Hernia	2239	GPC4	OMIM:312870
HP:0100790	Hernia	2719	GPC3	ORPHA:373
HP:0100790	Hernia	2719	GPC3	OMIM:312870
HP:0100790	Hernia	79989	IFT56	OMIM:619534
HP:0100790	Hernia	284098	PIGW	OMIM:616025
HP:0100790	Hernia	259232	NALCN	OMIM:616266
HP:0100790	Hernia	23483	TGDS	OMIM:616145
HP:0100790	Hernia	4851	NOTCH1	OMIM:616028
HP:0100790	Hernia	2260	FGFR1	OMIM:166250
HP:0100790	Hernia	2260	FGFR1	ORPHA:2645
HP:0100790	Hernia	2006	ELN	ORPHA:90348
HP:0100790	Hernia	2006	ELN	OMIM:123700
HP:0100790	Hernia	2006	ELN	ORPHA:904
HP:0100790	Hernia	2006	ELN	OMIM:194050
HP:0100790	Hernia	2006	ELN	ORPHA:91387
HP:0100790	Hernia	10516	FBLN5	ORPHA:90348
HP:0100790	Hernia	10516	FBLN5	ORPHA:90349
HP:0100790	Hernia	10516	FBLN5	OMIM:219100
HP:0100790	Hernia	2720	GLB1	OMIM:230500
HP:0100790	Hernia	2720	GLB1	OMIM:253010
HP:0100790	Hernia	4052	LTBP1	ORPHA:90349
HP:0100790	Hernia	4052	LTBP1	OMIM:619451
HP:0100790	Hernia	30008	EFEMP2	ORPHA:90349
HP:0100790	Hernia	30008	EFEMP2	OMIM:614437
HP:0100790	Hernia	1107	CHD3	OMIM:618205
HP:0100790	Hernia	3339	HSPG2	OMIM:255800
HP:0100790	Hernia	3339	HSPG2	ORPHA:800
HP:0100790	Hernia	2317	FLNB	OMIM:272460
HP:0100790	Hernia	6595	SMARCA2	OMIM:601358
HP:0100790	Hernia	1387	CREBBP	OMIM:618332
HP:0100790	Hernia	8295	TRRAP	OMIM:618454
HP:0100790	Hernia	54101	RIPK4	OMIM:263650
HP:0100790	Hernia	4212	MEIS2	ORPHA:261190
HP:0100790	Hernia	1801	DPH1	ORPHA:459061
HP:0100790	Hernia	2737	GLI3	ORPHA:672
HP:0100790	Hernia	2737	GLI3	ORPHA:36
HP:0100790	Hernia	2737	GLI3	OMIM:175700
HP:0100790	Hernia	4088	SMAD3	ORPHA:284984
HP:0100790	Hernia	4088	SMAD3	OMIM:613795
HP:0100790	Hernia	4088	SMAD3	ORPHA:91387
HP:0100790	Hernia	6448	SGSH	OMIM:252900
HP:0100790	Hernia	5351	PLOD1	OMIM:225400
HP:0100790	Hernia	5351	PLOD1	ORPHA:1900
HP:0100790	Hernia	1859	DYRK1A	ORPHA:268261
HP:0100790	Hernia	10765	KDM5B	OMIM:618109
HP:0100790	Hernia	6418	SET	OMIM:618106
HP:0100790	Hernia	79813	EHMT1	ORPHA:96147
HP:0100790	Hernia	79813	EHMT1	ORPHA:261652
HP:0100790	Hernia	2627	GATA6	OMIM:600001
HP:0100790	Hernia	374654	KIF7	ORPHA:36
HP:0100790	Hernia	374654	KIF7	OMIM:200990
HP:0100790	Hernia	374654	KIF7	OMIM:607131
HP:0100790	Hernia	2972	BRF1	ORPHA:444072
HP:0100790	Hernia	5515	PPP2CA	OMIM:618354
HP:0100790	Hernia	388015	RTL1	ORPHA:254528
HP:0100790	Hernia	8788	DLK1	ORPHA:254528
HP:0100790	Hernia	55384	MEG3	ORPHA:254528
HP:0100790	Hernia	23729	SHPK	ORPHA:440713
HP:0100790	Hernia	4952	OCRL	ORPHA:534
HP:0100790	Hernia	4125	MAN2B1	OMIM:248500
HP:0100790	Hernia	6601	SMARCC2	OMIM:618362
HP:0100790	Hernia	84068	SLC10A7	OMIM:618363
HP:0100790	Hernia	165	AEBP1	OMIM:618000
HP:0100790	Hernia	165	AEBP1	ORPHA:536532
HP:0100790	Hernia	8260	NAA10	OMIM:300855
HP:0100790	Hernia	8260	NAA10	ORPHA:276432
HP:0100790	Hernia	5831	PYCR1	OMIM:612940
HP:0100790	Hernia	5831	PYCR1	OMIM:614438
HP:0100790	Hernia	1312	COMT	ORPHA:567
HP:0100790	Hernia	221037	JMJD1C	ORPHA:567
HP:0100790	Hernia	2812	GP1BB	ORPHA:567
HP:0100790	Hernia	6239	RREB1	ORPHA:567
HP:0100790	Hernia	7290	HIRA	ORPHA:567
HP:0100790	Hernia	9632	SEC24C	ORPHA:567
HP:0100790	Hernia	7353	UFD1	ORPHA:567
HP:0100790	Hernia	421	ARVCF	ORPHA:567
HP:0100790	Hernia	22827	PUF60	ORPHA:508488
HP:0100790	Hernia	27031	NPHP3	OMIM:267010
HP:0100790	Hernia	1280	COL2A1	OMIM:156550
HP:0100790	Hernia	1280	COL2A1	OMIM:184250
HP:0100790	Hernia	11342	RNF13	OMIM:618379
HP:0100790	Hernia	11342	RNF13	ORPHA:544503
HP:0100790	Hernia	7317	UBA1	OMIM:301830
HP:0100790	Hernia	26040	SETBP1	ORPHA:798
HP:0100790	Hernia	2316	FLNA	ORPHA:75497
HP:0100790	Hernia	9791	PTDSS1	OMIM:151050
HP:0100790	Hernia	9791	PTDSS1	ORPHA:2658
HP:0100790	Hernia	716	C1S	OMIM:617174
HP:0100790	Hernia	10526	IPO8	OMIM:619472
HP:0100790	Hernia	1278	COL1A2	OMIM:225320
HP:0100790	Hernia	1278	COL1A2	ORPHA:230851
HP:0100790	Hernia	1278	COL1A2	ORPHA:1899
HP:0100790	Hernia	94005	PIGS	OMIM:618143
HP:0100790	Hernia	6935	ZEB1	OMIM:609141
HP:0100790	Hernia	285590	SH3PXD2B	ORPHA:137834
HP:0100790	Hernia	10283	CWC27	ORPHA:166035
HP:0100790	Hernia	8720	MBTPS1	OMIM:618392
HP:0100790	Hernia	23405	DICER1	OMIM:618272
HP:0100790	Hernia	51360	MBTPS2	OMIM:308205
HP:0100790	Hernia	51360	MBTPS2	ORPHA:2273
HP:0100790	Hernia	1457	CSNK2A1	OMIM:617062
HP:0100790	Hernia	23112	TNRC6B	OMIM:619243
HP:0100790	Hernia	10220	GDF11	OMIM:619122
HP:0100790	Hernia	8450	CUL4B	ORPHA:85293
HP:0100790	Hernia	2799	GNS	OMIM:252940
HP:0100790	Hernia	5295	PIK3R1	ORPHA:3163
HP:0100790	Hernia	5295	PIK3R1	OMIM:269880
HP:0100790	Hernia	149461	CLDN19	ORPHA:2196
HP:0100790	Hernia	9487	PIGL	OMIM:280000
HP:0100790	Hernia	875	CBS	OMIM:236200
HP:0100790	Hernia	7474	WNT5A	OMIM:180700
HP:0100790	Hernia	7474	WNT5A	ORPHA:3107
HP:0100790	Hernia	1855	DVL1	OMIM:180700
HP:0100790	Hernia	1855	DVL1	ORPHA:3107
HP:0100790	Hernia	9897	WASHC5	ORPHA:7
HP:0100790	Hernia	28952	CCDC22	ORPHA:7
HP:0100790	Hernia	9652	SKIC3	ORPHA:84064
HP:0100790	Hernia	6499	SKIC2	ORPHA:84064
HP:0100790	Hernia	5518	PPP2R1A	ORPHA:457284
HP:0100790	Hernia	29969	MDFIC	OMIM:620014
HP:0100790	Hernia	7042	TGFB2	OMIM:614816
HP:0100790	Hernia	7042	TGFB2	ORPHA:91387
HP:0100790	Hernia	871	SERPINH1	OMIM:613848
HP:0100790	Hernia	168667	BMPER	OMIM:608022
HP:0100790	Hernia	4702	NDUFA8	OMIM:619272
HP:0100790	Hernia	10128	LRPPRC	OMIM:220111
HP:0100790	Hernia	55503	TRPV6	OMIM:618188
HP:0100790	Hernia	2904	GRIN2B	OMIM:613970
HP:0100790	Hernia	57539	WDR35	OMIM:613610
HP:0100790	Hernia	145173	B3GLCT	ORPHA:709
HP:0100790	Hernia	123263	MTFMT	OMIM:614947
HP:0100790	Hernia	4774	NFIA	OMIM:613735
HP:0100790	Hernia	4758	NEU1	OMIM:256550
HP:0100790	Hernia	4758	NEU1	ORPHA:93399
HP:0100790	Hernia	4758	NEU1	ORPHA:93400
HP:0100790	Hernia	23126	POGZ	ORPHA:468678
HP:0100790	Hernia	5352	PLOD2	OMIM:609220
HP:0100790	Hernia	64324	NSD1	ORPHA:821
HP:0100790	Hernia	64324	NSD1	ORPHA:3447
HP:0100790	Hernia	29072	SETD2	ORPHA:821
HP:0100790	Hernia	10297	APC2	ORPHA:821
HP:0100790	Hernia	10093	ARPC4	OMIM:620141
HP:0100790	Hernia	4281	MID1	OMIM:300000
HP:0100790	Hernia	4281	MID1	ORPHA:2745
HP:0100790	Hernia	8443	GNPAT	OMIM:222765
HP:0100790	Hernia	613	BCR	ORPHA:261330
HP:0100790	Hernia	1399	CRKL	ORPHA:261330
HP:0100790	Hernia	5594	MAPK1	ORPHA:261330
HP:0100790	Hernia	25782	RAB3GAP2	OMIM:212720
HP:0100790	Hernia	6197	RPS6KA3	OMIM:303600
HP:0100790	Hernia	1146	CHRNG	OMIM:265000
HP:0100790	Hernia	1146	CHRNG	ORPHA:2990
HP:0100790	Hernia	57492	ARID1B	OMIM:135900
HP:0100790	Hernia	92579	G6PC3	OMIM:612541
HP:0100790	Hernia	8289	ARID1A	OMIM:614607
HP:0100790	Hernia	6598	SMARCB1	OMIM:614608
HP:0100790	Hernia	26053	AUTS2	ORPHA:352490
HP:0100790	Hernia	26053	AUTS2	OMIM:615834
HP:0100790	Hernia	23314	SATB2	OMIM:612313
HP:0100790	Hernia	25942	SIN3A	OMIM:613406
HP:0100790	Hernia	3425	IDUA	OMIM:607014
HP:0100790	Hernia	3425	IDUA	OMIM:607015
HP:0100790	Hernia	175	AGA	ORPHA:93
HP:0100790	Hernia	5826	ABCD4	OMIM:614857
HP:0100790	Hernia	699	BUB1	OMIM:620183
HP:0100790	Hernia	1836	SLC26A2	OMIM:600972
HP:0100790	Hernia	197257	LDHD	OMIM:245450
HP:0100790	Hernia	1857	DVL3	ORPHA:3107
HP:0100790	Hernia	2535	FZD2	ORPHA:3107
HP:0100790	Hernia	6804	STX1A	ORPHA:904
HP:0100790	Hernia	7461	CLIP2	ORPHA:904
HP:0100790	Hernia	84277	DNAJC30	ORPHA:904
HP:0100790	Hernia	8468	FKBP6	ORPHA:904
HP:0100790	Hernia	5982	RFC2	ORPHA:904
HP:0100790	Hernia	2969	GTF2I	ORPHA:904
HP:0100790	Hernia	3984	LIMK1	ORPHA:904
HP:0100790	Hernia	9569	GTF2IRD1	ORPHA:904
HP:0100790	Hernia	155382	VPS37D	ORPHA:904
HP:0100790	Hernia	155368	METTL27	ORPHA:904
HP:0100790	Hernia	114049	BUD23	ORPHA:904
HP:0100790	Hernia	7458	EIF4H	ORPHA:904
HP:0100790	Hernia	84163	GTF2IRD2	ORPHA:904
HP:0100790	Hernia	9275	BCL7B	ORPHA:904
HP:0100790	Hernia	26608	TBL2	ORPHA:904
HP:0100790	Hernia	653361	NCF1	ORPHA:904
HP:0100790	Hernia	135886	TMEM270	ORPHA:904
HP:0100790	Hernia	51085	MLXIPL	ORPHA:904
HP:0100790	Hernia	51085	MLXIPL	OMIM:194050
HP:0100790	Hernia	9031	BAZ1B	ORPHA:904
HP:0100790	Hernia	10056	FARSB	OMIM:613658
HP:0100790	Hernia	54499	TMCO1	OMIM:213980
HP:0100790	Hernia	84992	PIGY	OMIM:616809
HP:0100790	Hernia	10907	TXNL4A	OMIM:608572
HP:0100790	Hernia	58508	KMT2C	ORPHA:261652
HP:0100790	Hernia	4094	MAF	ORPHA:1272
HP:0100790	Hernia	8481	OFD1	OMIM:300209
HP:0100790	Hernia	3481	IGF2	ORPHA:397590
HP:0100790	Hernia	3481	IGF2	ORPHA:2128
HP:0100790	Hernia	1028	CDKN1C	ORPHA:397590
HP:0100790	Hernia	5324	PLAG1	ORPHA:397590
HP:0100790	Hernia	8091	HMGA2	ORPHA:397590
HP:0100790	Hernia	63895	PIEZO2	ORPHA:1154
HP:0100790	Hernia	63895	PIEZO2	OMIM:248700
HP:0100790	Hernia	10984	KCNQ1OT1	ORPHA:2128
HP:0100790	Hernia	283120	H19	ORPHA:2128
HP:0100790	Hernia	2146	EZH2	OMIM:277590
HP:0100790	Hernia	2146	EZH2	ORPHA:3447
HP:0100790	Hernia	7048	TGFBR2	OMIM:610168
HP:0100790	Hernia	7048	TGFBR2	ORPHA:91387
HP:0100790	Hernia	8726	EED	ORPHA:3447
HP:0100790	Hernia	23512	SUZ12	ORPHA:3447
HP:0100790	Hernia	55690	PACS1	ORPHA:329224
HP:0100790	Hernia	2245	FGD1	ORPHA:915
HP:0100790	Hernia	2245	FGD1	OMIM:305400
HP:0100790	Hernia	2200	FBN1	ORPHA:2462
HP:0100790	Hernia	2200	FBN1	ORPHA:91387
HP:0100790	Hernia	6497	SKI	ORPHA:2462
HP:0100790	Hernia	6497	SKI	OMIM:182212
HP:0100790	Hernia	4089	SMAD4	ORPHA:2588
HP:0100790	Hernia	4089	SMAD4	ORPHA:91387
HP:0100790	Hernia	411	ARSB	OMIM:253200
HP:0100790	Hernia	10847	SRCAP	OMIM:136140
HP:0100790	Hernia	4854	NOTCH3	OMIM:130720
HP:0100790	Hernia	4854	NOTCH3	ORPHA:2789
HP:0100790	Hernia	23291	FBXW11	OMIM:618914
HP:0100790	Hernia	4953	ODC1	ORPHA:544488
HP:0100790	Hernia	998	CDC42	OMIM:616737
HP:0100790	Hernia	998	CDC42	ORPHA:487796
HP:0100790	Hernia	55033	FKBP14	OMIM:614557
HP:0100790	Hernia	2187	FANCB	ORPHA:3412
HP:0100790	Hernia	2657	GDF1	OMIM:208530
HP:0100790	Hernia	10265	IRX5	OMIM:611174
HP:0100790	Hernia	134701	RIPPLY2	ORPHA:2311
HP:0100790	Hernia	10683	DLL3	ORPHA:2311
HP:0100790	Hernia	3955	LFNG	ORPHA:2311
HP:0100790	Hernia	84667	HES7	ORPHA:2311
HP:0100790	Hernia	145873	MESP2	ORPHA:2311
HP:0100790	Hernia	55764	IFT122	OMIM:218330
HP:0100790	Hernia	367	AR	OMIM:300068
HP:0100790	Hernia	8884	SLC5A6	OMIM:619903
HP:0100790	Hernia	2626	GATA4	OMIM:615542
HP:0100790	Hernia	56623	INPP5E	ORPHA:1454
HP:0100790	Hernia	91147	TMEM67	ORPHA:1454
HP:0100790	Hernia	23322	RPGRIP1L	ORPHA:1454
HP:0100790	Hernia	57545	CC2D2A	ORPHA:1454
HP:0100790	Hernia	79633	FAT4	OMIM:615546
HP:0100790	Hernia	6785	ELOVL4	OMIM:614457
HP:0100790	Hernia	26227	PHGDH	ORPHA:79351
HP:0100790	Hernia	2313	FLI1	ORPHA:2308
HP:0100790	Hernia	10664	CTCF	ORPHA:363611
HP:0100790	Hernia	2588	GALNS	OMIM:253000
HP:0100790	Hernia	1861	TOR1A	OMIM:618947
HP:0100790	Hernia	8905	AP1S2	ORPHA:1568
HP:0100790	Hernia	55617	TASP1	OMIM:618950
HP:0100790	Hernia	523	ATP6V1A	ORPHA:357074
HP:0100790	Hernia	523	ATP6V1A	OMIM:617403
HP:0100790	Hernia	529	ATP6V1E1	ORPHA:357074
HP:0100790	Hernia	7518	XRCC4	OMIM:616541
HP:0100790	Hernia	10020	GNE	OMIM:269921
HP:0100790	Hernia	51780	KDM3B	OMIM:618846
HP:0100790	Hernia	5430	POLR2A	OMIM:618603
HP:0100790	Hernia	9469	CHST3	OMIM:245600
HP:0100790	Hernia	26229	B3GAT3	OMIM:245600
HP:0100790	Hernia	57728	WDR19	OMIM:614376
HP:0100790	Hernia	203068	TUBB	ORPHA:2505
HP:0100790	Hernia	10982	MAPRE2	ORPHA:2505
HP:0100790	Hernia	221927	BRAT1	OMIM:614498
HP:0100790	Hernia	170302	ARX	ORPHA:2508
HP:0100790	Hernia	7046	TGFBR1	ORPHA:91387
HP:0100790	Hernia	4015	LOX	ORPHA:91387
HP:0100790	Hernia	4087	SMAD2	ORPHA:91387
HP:0100790	Hernia	59	ACTA2	ORPHA:91387
HP:0100790	Hernia	5592	PRKG1	ORPHA:91387
HP:0100790	Hernia	2301	FOXE3	ORPHA:91387
HP:0100790	Hernia	4144	MAT2A	ORPHA:91387
HP:0100790	Hernia	23493	HEY2	ORPHA:91387
HP:0100790	Hernia	8076	MFAP5	ORPHA:91387
HP:0100790	Hernia	4638	MYLK	ORPHA:91387
HP:0100790	Hernia	8243	SMC1A	OMIM:301044
HP:0100790	Hernia	8243	SMC1A	ORPHA:199
HP:0100790	Hernia	10262	SF3B4	OMIM:154400
HP:0100790	Hernia	23414	ZFPM2	OMIM:610187
HP:0100790	Hernia	23414	ZFPM2	ORPHA:2140
HP:0100790	Hernia	5111	PCNA	OMIM:615919
HP:0100790	Hernia	5111	PCNA	ORPHA:438134
HP:0100790	Hernia	1349	COX7B	OMIM:300887
HP:0100790	Hernia	1349	COX7B	ORPHA:2556
HP:0100790	Hernia	1349	COX7B	OMIM:309801
HP:0100790	Hernia	113179	ADAT3	ORPHA:363528
HP:0100790	Hernia	55784	MCTP2	ORPHA:1596
HP:0100790	Hernia	8085	KMT2D	ORPHA:2322
HP:0100790	Hernia	7403	KDM6A	ORPHA:2322
HP:0100790	Hernia	5915	RARB	OMIM:615524
HP:0100790	Hernia	5915	RARB	ORPHA:2470
HP:0100790	Hernia	1717	DHCR7	ORPHA:818
HP:0100790	Hernia	10735	STAG2	OMIM:301022
HP:0100790	Hernia	51132	RLIM	OMIM:300978
HP:0100790	Hernia	51434	ANAPC7	OMIM:619699
HP:0100790	Hernia	54539	NDUFB11	ORPHA:2556
HP:0100790	Hernia	54539	NDUFB11	OMIM:309801
HP:0100790	Hernia	3052	HCCS	ORPHA:2556
HP:0100790	Hernia	3052	HCCS	OMIM:309801
HP:0100790	Hernia	4330	MN1	OMIM:618774
HP:0100790	Hernia	6885	MAP3K7	OMIM:157800
HP:0100790	Hernia	25	ABL1	OMIM:617602
HP:0100790	Hernia	6234	RPS28	OMIM:606164
HP:0100790	Hernia	23476	BRD4	ORPHA:199
HP:0100790	Hernia	9126	SMC3	ORPHA:199
HP:0100790	Hernia	55869	HDAC8	ORPHA:199
HP:0100790	Hernia	5885	RAD21	ORPHA:199
HP:0100790	Hernia	340419	RSPO2	OMIM:618022
HP:0100790	Hernia	10293	TRAIP	OMIM:616777
HP:0100790	Hernia	79971	WLS	OMIM:619648
HP:0100790	Hernia	745	MYRF	OMIM:618280
HP:0100790	Hernia	9786	KIAA0586	OMIM:616546
HP:0100790	Hernia	7473	WNT3	OMIM:273395
HP:0100790	Hernia	54361	WNT4	OMIM:611812
HP:0100790	Hernia	54361	WNT4	ORPHA:139466
HP:0100790	Hernia	25970	SH2B1	ORPHA:261197
HP:0100790	Hernia	5087	PBX1	OMIM:617641
HP:0100790	Hernia	9935	MAFB	OMIM:166300
HP:0100790	Hernia	341640	FREM2	ORPHA:2052
HP:0100790	Hernia	80144	FRAS1	ORPHA:2052
HP:0100790	Hernia	23426	GRIP1	ORPHA:2052
HP:0100790	Hernia	1788	DNMT3A	ORPHA:404443
HP:0100790	Hernia	1788	DNMT3A	OMIM:615879
HP:0100790	Hernia	4487	MSX1	ORPHA:199302
HP:0100790	Hernia	5818	NECTIN1	ORPHA:199302
HP:0100790	Hernia	3664	IRF6	ORPHA:199302
HP:0100790	Hernia	7849	PAX8	OMIM:218700
HP:0100790	Hernia	7849	PAX8	ORPHA:95712
HP:0100790	Hernia	283489	CHAMP1	OMIM:616579
HP:0100790	Hernia	72	ACTG2	ORPHA:2604
HP:0100790	Hernia	72	ACTG2	ORPHA:2241
HP:0100790	Hernia	23384	SPECC1L	ORPHA:1519
HP:0100790	Hernia	3764	KCNJ8	ORPHA:1517
HP:0100790	Hernia	10060	ABCC9	ORPHA:1517
HP:0100790	Hernia	10060	ABCC9	OMIM:239850
HP:0100790	Hernia	7253	TSHR	ORPHA:90673
HP:0100790	Hernia	7252	TSHB	ORPHA:90674
HP:0100790	Hernia	7252	TSHB	OMIM:275100
HP:0100790	Hernia	29957	SLC25A24	ORPHA:2963
HP:0100790	Hernia	29957	SLC25A24	ORPHA:2095
HP:0100790	Hernia	29957	SLC25A24	OMIM:612289
HP:0100790	Hernia	54453	RIN2	OMIM:613075
HP:0100790	Hernia	54453	RIN2	ORPHA:217335
HP:0100790	Hernia	50814	NSDHL	OMIM:308050
HP:0100790	Hernia	672	BRCA1	ORPHA:84
HP:0100790	Hernia	10459	MAD2L2	ORPHA:84
HP:0100790	Hernia	7516	XRCC2	ORPHA:84
HP:0100790	Hernia	29089	UBE2T	ORPHA:84
HP:0100790	Hernia	675	BRCA2	ORPHA:84
HP:0100790	Hernia	55120	FANCL	ORPHA:84
HP:0100790	Hernia	2177	FANCD2	ORPHA:84
HP:0100790	Hernia	2175	FANCA	ORPHA:84
HP:0100790	Hernia	2176	FANCC	ORPHA:84
HP:0100790	Hernia	2178	FANCE	ORPHA:84
HP:0100790	Hernia	2188	FANCF	ORPHA:84
HP:0100790	Hernia	2189	FANCG	ORPHA:84
HP:0100790	Hernia	5888	RAD51	ORPHA:84
HP:0100790	Hernia	5889	RAD51C	ORPHA:84
HP:0100790	Hernia	55159	RFWD3	ORPHA:84
HP:0100790	Hernia	83990	BRIP1	ORPHA:84
HP:0100790	Hernia	57697	FANCM	ORPHA:84
HP:0100790	Hernia	79728	PALB2	ORPHA:84
HP:0100790	Hernia	84464	SLX4	ORPHA:84
HP:0100790	Hernia	2072	ERCC4	ORPHA:84
HP:0100790	Hernia	55215	FANCI	ORPHA:84
HP:0100790	Hernia	2697	GJA1	ORPHA:2710
HP:0100790	Hernia	10555	AGPAT2	OMIM:608594
HP:0100790	Hernia	3070	HELLS	ORPHA:2268
HP:0100790	Hernia	1789	DNMT3B	ORPHA:2268
HP:0100790	Hernia	83879	CDCA7	ORPHA:2268
HP:0100790	Hernia	9841	ZBTB24	ORPHA:2268
HP:0100790	Hernia	1009	CDH11	ORPHA:1299
HP:0100790	Hernia	1954	MEGF8	OMIM:614976
HP:0100790	Hernia	1954	MEGF8	ORPHA:65759
HP:0100790	Hernia	649	BMP1	OMIM:614856
HP:0100790	Hernia	55636	CHD7	OMIM:214800
HP:0100790	Hernia	4036	LRP2	ORPHA:2143
HP:0100790	Hernia	4036	LRP2	OMIM:222448
HP:0100790	Hernia	1947	EFNB1	OMIM:304110
HP:0100790	Hernia	5626	PROP1	ORPHA:226307
HP:0100790	Hernia	89884	LHX4	ORPHA:226307
HP:0100790	Hernia	8022	LHX3	ORPHA:226307
HP:0100790	Hernia	5449	POU1F1	ORPHA:226307
HP:0100790	Hernia	8820	HESX1	ORPHA:226307
HP:0100790	Hernia	79753	SNIP1	OMIM:614501
HP:0100790	Hernia	5593	PRKG2	OMIM:619636
HP:0100790	Hernia	8364	H4C3	OMIM:619758
HP:0100790	Hernia	8517	IKBKG	ORPHA:464
HP:0100790	Hernia	50506	DUOX2	ORPHA:226316
HP:0100790	Hernia	50506	DUOX2	ORPHA:95716
HP:0100790	Hernia	25802	LMOD1	ORPHA:2241
HP:0100790	Hernia	55343	SLC35C1	ORPHA:99843
HP:0100790	Hernia	7030	TFE3	OMIM:301066
HP:0100790	Hernia	285203	EOGT	OMIM:615297
HP:0100790	Hernia	57479	PRR12	OMIM:619539
HP:0100790	Hernia	84168	ANTXR1	OMIM:230740
HP:0100790	Hernia	84168	ANTXR1	ORPHA:2067
HP:0100790	Hernia	64919	BCL11B	OMIM:617237
HP:0100790	Hernia	3930	LBR	OMIM:169400
HP:0100790	Hernia	404672	GTF2H5	ORPHA:33364
HP:0100790	Hernia	833	CARS1	ORPHA:33364
HP:0100790	Hernia	2068	ERCC2	ORPHA:33364
HP:0100790	Hernia	7737	RNF113A	ORPHA:33364
HP:0100790	Hernia	136647	MPLKIP	ORPHA:33364
HP:0100790	Hernia	6897	TARS1	ORPHA:33364
HP:0100790	Hernia	2071	ERCC3	ORPHA:33364
HP:0100790	Hernia	2961	GTF2E2	ORPHA:33364
HP:0100790	Hernia	147372	CCBE1	OMIM:235510
HP:0100790	Hernia	6528	SLC5A5	OMIM:274400
HP:0100790	Hernia	6528	SLC5A5	ORPHA:95716
HP:0100790	Hernia	117581	TWIST2	ORPHA:920
HP:0100790	Hernia	9742	IFT140	OMIM:266920
HP:0100790	Hernia	51053	GMNN	OMIM:616835
HP:0100790	Hernia	90417	KNSTRN	OMIM:613328
HP:0100790	Hernia	90417	KNSTRN	ORPHA:221139
HP:0100790	Hernia	5293	PIK3CD	OMIM:613328
HP:0100790	Hernia	5293	PIK3CD	ORPHA:221139
HP:0100790	Hernia	6792	CDKL5	ORPHA:1934
HP:0100790	Hernia	3736	KCNA1	ORPHA:1934
HP:0100790	Hernia	2775	GNAO1	ORPHA:1934
HP:0100790	Hernia	81603	TRIM8	ORPHA:1934
HP:0100790	Hernia	2902	GRIN1	ORPHA:1934
HP:0100790	Hernia	79751	SLC25A22	ORPHA:1934
HP:0100790	Hernia	150094	SIK1	ORPHA:1934
HP:0100790	Hernia	8573	CASK	ORPHA:1934
HP:0100790	Hernia	23312	DMXL2	ORPHA:1934
HP:0100790	Hernia	2917	GRM7	ORPHA:1934
HP:0100790	Hernia	11284	PNKP	ORPHA:1934
HP:0100790	Hernia	6326	SCN2A	ORPHA:1934
HP:0100790	Hernia	51227	PIGP	ORPHA:1934
HP:0100790	Hernia	6324	SCN1B	ORPHA:1934
HP:0100790	Hernia	4761	NEUROD2	ORPHA:1934
HP:0100790	Hernia	9759	HDAC4	ORPHA:1001
HP:0100790	Hernia	546	ATRX	OMIM:301040
HP:0100790	Hernia	6299	SALL1	OMIM:107480
HP:0100790	Hernia	3097	HIVEP2	OMIM:616977
HP:0100790	Hernia	3767	KCNJ11	ORPHA:99886
HP:0100790	Hernia	346171	ZFP57	ORPHA:99886
HP:0100790	Hernia	57061	HYMAI	ORPHA:99886
HP:0100790	Hernia	57061	HYMAI	ORPHA:96191
HP:0100790	Hernia	6833	ABCC8	ORPHA:99886
HP:0100790	Hernia	5325	PLAGL1	ORPHA:99886
HP:0100790	Hernia	5325	PLAGL1	ORPHA:96191
HP:0100790	Hernia	79068	FTO	OMIM:612938
HP:0100790	Hernia	4784	NFIX	OMIM:602535
HP:0100790	Hernia	3756	KCNH1	OMIM:135500
HP:0100790	Hernia	85358	SHANK3	ORPHA:48652
HP:0100790	Hernia	405753	DUOXA2	ORPHA:95716
HP:0100790	Hernia	7038	TG	ORPHA:95716
HP:0100790	Hernia	7173	TPO	ORPHA:95716
HP:0100790	Hernia	389434	IYD	ORPHA:95716
HP:0100790	Hernia	55603	TENT5A	OMIM:617952
HP:0100790	Hernia	2019	EN1	OMIM:619218
HP:0100790	Hernia	23389	MED13L	ORPHA:369891
HP:0100790	Hernia	1482	NKX2-5	ORPHA:95712
HP:0100790	Hernia	6045	RNF2	OMIM:619460
HP:0100790	Hernia	633	BGN	OMIM:300989
HP:0100790	Hernia	2475	MTOR	OMIM:616638
HP:0100790	Hernia	51715	RAB23	ORPHA:65759
HP:0100790	Hernia	51715	RAB23	OMIM:201000
HP:0100790	Hernia	84265	POLR3GL	OMIM:619234
HP:0100790	Hernia	26580	BSCL2	OMIM:269700
HP:0100790	Hernia	54880	BCOR	OMIM:300166
HP:0100790	Hernia	2263	FGFR2	ORPHA:1555
HP:0100790	Hernia	100506658	OCLN	OMIM:251290
HP:0100790	Hernia	23169	SLC35D1	OMIM:269250
HP:0100790	Hernia	5879	RAC1	OMIM:617751
HP:0100790	Hernia	5879	RAC1	ORPHA:500159
HP:0100790	Hernia	84231	TRAF7	OMIM:618164
HP:0100790	Hernia	10584	COLEC10	ORPHA:293843
HP:0100790	Hernia	5648	MASP1	ORPHA:293843
HP:0100790	Hernia	78989	COLEC11	ORPHA:293843
HP:0100790	Hernia	63916	ELMO2	OMIM:606893
HP:0100790	Hernia	5727	PTCH1	ORPHA:77301
HP:0100790	Hernia	55553	SOX6	OMIM:618971
HP:0100790	Hernia	9361	LONP1	OMIM:600373
HP:0100790	Hernia	2294	FOXF1	OMIM:265380
HP:0100790	Hernia	28981	IFT81	OMIM:617895
HP:0100790	Hernia	23556	PIGN	ORPHA:2059
HP:0100790	Hernia	55112	DYNC2I1	ORPHA:93271
HP:0100790	Hernia	57560	IFT80	ORPHA:93271
HP:0100790	Hernia	79659	DYNC2H1	ORPHA:93271
HP:0100790	Hernia	89891	DYNC2I2	ORPHA:93271
HP:0100790	Hernia	91754	NEK9	OMIM:617022
HP:0100790	Hernia	51259	TMEM216	OMIM:603194
HP:0100790	Hernia	10225	CD96	OMIM:211750
HP:0100790	Hernia	10225	CD96	ORPHA:1308
HP:0100790	Hernia	7547	ZIC3	OMIM:306955
HP:0100790	Hernia	1147	CHUK	OMIM:613630
HP:0100790	Hernia	158326	FREM1	ORPHA:3366
HP:0100790	Hernia	158326	FREM1	OMIM:248450
HP:0100790	Hernia	4313	MMP2	ORPHA:371428
HP:0100790	Hernia	4323	MMP14	ORPHA:371428
HP:0100790	Hernia	1301	COL11A1	OMIM:228520
HP:0100790	Hernia	1301	COL11A1	ORPHA:2021
HP:0100790	Hernia	79796	ALG9	OMIM:263210
HP:0100790	Hernia	79796	ALG9	ORPHA:79328
HP:0100790	Hernia	7067	THRA	OMIM:614450
HP:0100790	Hernia	55012	PPP2R3C	OMIM:618419
HP:0100790	Hernia	10046	MAMLD1	ORPHA:95706
HP:0100790	Hernia	1302	COL11A2	ORPHA:2021
HP:0100790	Hernia	4524	MTHFR	ORPHA:563609
HP:0100790	Hernia	57216	VANGL2	ORPHA:563609
HP:0100790	Hernia	57217	TTC7A	OMIM:243150
HP:0100790	Hernia	57217	TTC7A	ORPHA:436252
HP:0100790	Hernia	4659	PPP1R12A	OMIM:618820
HP:0100790	Hernia	2571	GAD1	OMIM:619124
HP:0100790	Hernia	9772	TMEM94	OMIM:618316
HP:0100790	Hernia	139285	AMER1	OMIM:300373
HP:0100790	Hernia	3090	HIC1	ORPHA:531
HP:0100790	Hernia	153241	CEP120	OMIM:616300
HP:0100790	Hernia	3784	KCNQ1	OMIM:130650
HP:0100790	Hernia	727857	BHLHA9	ORPHA:3329
HP:0100790	Hernia	5297	PI4KA	ORPHA:436252
HP:0100790	Hernia	219844	HYLS1	OMIM:236680
HP:0100790	Hernia	3239	HOXD13	ORPHA:887
HP:0100790	Hernia	54903	MKS1	OMIM:249000
HP:0100790	Hernia	51339	DACT1	ORPHA:63260
HP:0100790	Hernia	4629	MYH11	OMIM:619350
HP:0100790	Hernia	64840	PORCN	OMIM:305600
HP:0100790	Hernia	538	ATP7A	ORPHA:198
HP:0100790	Hernia	538	ATP7A	OMIM:304150
HP:0100790	Hernia	81031	SLC2A10	OMIM:208050
HP:0100790	Hernia	81031	SLC2A10	ORPHA:3342
HP:0100790	Hernia	9968	MED12	OMIM:300895
HP:0100790	Hernia	2132	EXT2	OMIM:616682
HP:0100790	Hernia	25836	NIPBL	OMIM:122470
HP:0100790	Hernia	84942	WDR73	OMIM:251300
HP:0100790	Hernia	84942	WDR73	ORPHA:2065
HP:0100790	Hernia	9719	ADAMTSL2	ORPHA:1901
HP:0100790	Hernia	9509	ADAMTS2	ORPHA:1901
HP:0100790	Hernia	6925	TCF4	ORPHA:2896
HP:0100790	Hernia	5832	ALDH18A1	OMIM:601162
HP:0100790	Hernia	1277	COL1A1	ORPHA:287
HP:0100790	Hernia	1289	COL5A1	ORPHA:287
HP:0100790	Hernia	1289	COL5A1	OMIM:619329
HP:0100790	Hernia	1290	COL5A2	ORPHA:287
HP:0100790	Hernia	7148	TNXB	OMIM:606408
HP:0100790	Hernia	113189	CHST14	OMIM:601776
HP:0100790	Hernia	715	C1R	OMIM:130080
HP:0100790	Hernia	2743	GLRB	ORPHA:3197
HP:0100790	Hernia	2743	GLRB	OMIM:614619
HP:0100790	Hernia	2741	GLRA1	ORPHA:3197
HP:0100790	Hernia	10243	GPHN	ORPHA:3197
HP:0100790	Hernia	84896	ATAD1	ORPHA:3197
HP:0100790	Hernia	9152	SLC6A5	ORPHA:3197
HP:0100790	Hernia	9152	SLC6A5	OMIM:614618
HP:0100790	Hernia	374879	ZNF699	OMIM:619488
HP:0100790	Hernia	7043	TGFB3	OMIM:615582
HP:0100790	Hernia	169792	GLIS3	OMIM:610199
HP:0100790	Hernia	23261	CAMTA1	OMIM:614756
HP:0100790	Hernia	84520	GON7	OMIM:619603
HP:0100790	Hernia	51002	TPRKB	ORPHA:2065
HP:0100790	Hernia	55644	OSGEP	ORPHA:2065
HP:0100790	Hernia	55644	OSGEP	OMIM:617729
HP:0100790	Hernia	57122	NUP107	ORPHA:2065
HP:0100790	Hernia	10785	WDR4	ORPHA:2065
HP:0100790	Hernia	55746	NUP133	ORPHA:2065
HP:0100790	Hernia	112858	TP53RK	ORPHA:2065
HP:0100790	Hernia	8270	LAGE3	ORPHA:2065
HP:0100790	Hernia	51341	ZBTB7A	OMIM:619769
HP:0100790	Hernia	4204	MECP2	ORPHA:1762
HP:0100790	Hernia	114548	NLRP3	ORPHA:575
HP:0100790	Hernia	7026	NR2F2	OMIM:618901
HP:0100790	Hernia	79133	NDUFAF5	OMIM:618238
HP:0100790	Hernia	8854	ALDH1A2	OMIM:620025
HP:0100790	Hernia	7490	WT1	OMIM:194080
HP:0100790	Hernia	6231	RPS26	OMIM:613309
HP:0100790	Hernia	8493	PPM1D	OMIM:617450
HP:0100790	Hernia	9578	CDC42BPB	OMIM:619841
HP:0100790	Hernia	9321	TRIP11	ORPHA:93299
HP:0100790	Hernia	375	ARF1	ORPHA:98892
HP:0100790	Hernia	4131	MAP1B	ORPHA:98892
HP:0100790	Hernia	23327	NEDD4L	ORPHA:98892
HP:0100790	Hernia	160418	TMTC3	ORPHA:98892
HP:0100790	Hernia	10564	ARFGEF2	ORPHA:98892
HP:0100790	Hernia	55780	ERMARD	ORPHA:98892
HP:0100790	Hernia	134218	DNAJC21	OMIM:617052
HP:0100790	Hernia	2517	FUCA1	OMIM:230000
HP:0100790	Hernia	5290	PIK3CA	OMIM:602501
HP:0100790	Hernia	84627	ZNF469	ORPHA:90354
HP:0100790	Hernia	65082	VPS33A	ORPHA:505248
HP:0100790	Hernia	6597	SMARCA4	ORPHA:1465
HP:0100790	Hernia	6659	SOX4	ORPHA:1465
HP:0100790	Hernia	5977	DPF2	ORPHA:1465
HP:0100790	Hernia	6602	SMARCD1	ORPHA:1465
HP:0100790	Hernia	196528	ARID2	ORPHA:1465
HP:0100790	Hernia	6605	SMARCE1	ORPHA:1465
HP:0100790	Hernia	6664	SOX11	ORPHA:1465
HP:0100790	Hernia	92344	GORAB	ORPHA:2078
HP:0100790	Hernia	138050	HGSNAT	OMIM:252930
HP:0100790	Hernia	10815	CPLX1	ORPHA:280
HP:0100790	Hernia	54872	PIGG	ORPHA:280
HP:0100790	Hernia	7469	NELFA	ORPHA:280
HP:0100790	Hernia	1487	CTBP1	ORPHA:280
HP:0100790	Hernia	3954	LETM1	ORPHA:280
HP:0100790	Hernia	7468	NSD2	ORPHA:280
HP:0100790	Hernia	10082	GPC6	ORPHA:93329
HP:0100790	Hernia	55315	SLC29A3	ORPHA:168569
HP:0001924	Sideroblastic anemia	22	ABCB7	OMIM:301310
HP:0001924	Sideroblastic anemia	80324	PUS1	OMIM:600462
HP:0001924	Sideroblastic anemia	212	ALAS2	OMIM:300751
HP:0001924	Sideroblastic anemia	7466	WFS1	OMIM:222300
HP:0001924	Sideroblastic anemia	23395	LARS2	OMIM:617021
HP:0001924	Sideroblastic anemia	51095	TRNT1	OMIM:616084
HP:0001924	Sideroblastic anemia	3313	HSPA9	OMIM:182170
HP:0001924	Sideroblastic anemia	51067	YARS2	OMIM:613561
HP:0001924	Sideroblastic anemia	10560	SLC19A2	OMIM:249270
HP:0001924	Sideroblastic anemia	54977	SLC25A38	OMIM:205950
HP:0001924	Sideroblastic anemia	23479	ISCU	OMIM:255125
HP:0001924	Sideroblastic anemia	55163	PNPO	ORPHA:79096
HP:0001924	Sideroblastic anemia	672	BRCA1	ORPHA:84
HP:0001924	Sideroblastic anemia	10459	MAD2L2	ORPHA:84
HP:0001924	Sideroblastic anemia	7516	XRCC2	ORPHA:84
HP:0001924	Sideroblastic anemia	29089	UBE2T	ORPHA:84
HP:0001924	Sideroblastic anemia	675	BRCA2	ORPHA:84
HP:0001924	Sideroblastic anemia	55120	FANCL	ORPHA:84
HP:0001924	Sideroblastic anemia	2177	FANCD2	ORPHA:84
HP:0001924	Sideroblastic anemia	2175	FANCA	ORPHA:84
HP:0001924	Sideroblastic anemia	2187	FANCB	ORPHA:84
HP:0001924	Sideroblastic anemia	2176	FANCC	ORPHA:84
HP:0001924	Sideroblastic anemia	2178	FANCE	ORPHA:84
HP:0001924	Sideroblastic anemia	2188	FANCF	ORPHA:84
HP:0001924	Sideroblastic anemia	2189	FANCG	ORPHA:84
HP:0001924	Sideroblastic anemia	5888	RAD51	ORPHA:84
HP:0001924	Sideroblastic anemia	5889	RAD51C	ORPHA:84
HP:0001924	Sideroblastic anemia	55159	RFWD3	ORPHA:84
HP:0001924	Sideroblastic anemia	83990	BRIP1	ORPHA:84
HP:0001924	Sideroblastic anemia	57697	FANCM	ORPHA:84
HP:0001924	Sideroblastic anemia	79728	PALB2	ORPHA:84
HP:0001924	Sideroblastic anemia	84464	SLX4	ORPHA:84
HP:0001924	Sideroblastic anemia	2072	ERCC4	ORPHA:84
HP:0001924	Sideroblastic anemia	55215	FANCI	ORPHA:84
HP:0100792	Acantholysis	3849	KRT2	ORPHA:455
HP:0100792	Acantholysis	1832	DSP	OMIM:609638
HP:0100792	Acantholysis	1832	DSP	ORPHA:158687
HP:0100792	Acantholysis	7286	TUFT1	OMIM:607655
HP:0100792	Acantholysis	3106	HLA-B	ORPHA:36426
HP:0100792	Acantholysis	10320	IKZF1	ORPHA:36426
HP:0100792	Acantholysis	3728	JUP	OMIM:601214
HP:0100792	Acantholysis	3728	JUP	ORPHA:158687
HP:0100792	Acantholysis	831	CAST	OMIM:616295
HP:0100792	Acantholysis	488	ATP2A2	OMIM:101900
HP:0100792	Acantholysis	488	ATP2A2	ORPHA:79151
HP:0100792	Acantholysis	488	ATP2A2	OMIM:124200
HP:0100792	Acantholysis	1828	DSG1	OMIM:615508
HP:0100792	Acantholysis	27032	ATP2C1	ORPHA:2841
HP:0100795	Abnormally straight spine	3339	HSPG2	ORPHA:800
HP:0100796	Orchitis	4210	MEFV	ORPHA:342
HP:0100796	Orchitis	4210	MEFV	OMIM:249100
HP:0100796	Orchitis	4210	MEFV	ORPHA:117
HP:0100796	Orchitis	7132	TNFRSF1A	ORPHA:32960
HP:0100796	Orchitis	149233	IL23R	ORPHA:117
HP:0100796	Orchitis	6775	STAT4	ORPHA:117
HP:0100796	Orchitis	3586	IL10	ORPHA:117
HP:0100796	Orchitis	1230	CCR1	ORPHA:117
HP:0100796	Orchitis	355	FAS	ORPHA:117
HP:0100796	Orchitis	3592	IL12A	ORPHA:117
HP:0100796	Orchitis	101928376	IL12A-AS1	ORPHA:117
HP:0100796	Orchitis	3106	HLA-B	ORPHA:117
HP:0100796	Orchitis	7099	TLR4	ORPHA:117
HP:0100796	Orchitis	3459	IFNGR1	ORPHA:117
HP:0100796	Orchitis	720	C4A	ORPHA:117
HP:0100796	Orchitis	337867	UBAC2	ORPHA:117
HP:0100796	Orchitis	51752	ERAP1	ORPHA:117
HP:0100796	Orchitis	8302	KLRC4	ORPHA:117
HP:0100797	Toenail dysplasia	727857	BHLHA9	OMIM:607539
HP:0100797	Toenail dysplasia	6872	TAF1	OMIM:300966
HP:0100797	Toenail dysplasia	285203	EOGT	OMIM:615297
HP:0100797	Toenail dysplasia	650	BMP2	OMIM:617877
HP:0100797	Toenail dysplasia	4010	LMX1B	ORPHA:2614
HP:0100797	Toenail dysplasia	8626	TP63	ORPHA:978
HP:0100797	Toenail dysplasia	85358	SHANK3	OMIM:606232
HP:0100797	Toenail dysplasia	2324	FLT4	ORPHA:79452
HP:0100797	Toenail dysplasia	57165	GJC2	ORPHA:79452
HP:0100797	Toenail dysplasia	2121	EVC	ORPHA:952
HP:0100797	Toenail dysplasia	132884	EVC2	ORPHA:952
HP:0100797	Toenail dysplasia	526	ATP6V1B2	ORPHA:79500
HP:0100797	Toenail dysplasia	57465	TBC1D24	ORPHA:79500
HP:0100797	Toenail dysplasia	7424	VEGFC	OMIM:615907
HP:0100798	Fingernail dysplasia	4038	LRP4	ORPHA:3152
HP:0100798	Fingernail dysplasia	50964	SOST	ORPHA:3152
HP:0100798	Fingernail dysplasia	3590	IL11RA	OMIM:614188
HP:0100798	Fingernail dysplasia	1857	DVL3	ORPHA:3107
HP:0100798	Fingernail dysplasia	7474	WNT5A	ORPHA:3107
HP:0100798	Fingernail dysplasia	1855	DVL1	ORPHA:3107
HP:0100798	Fingernail dysplasia	2535	FZD2	ORPHA:3107
HP:0100798	Fingernail dysplasia	4010	LMX1B	ORPHA:2614
HP:0100798	Fingernail dysplasia	7020	TFAP2A	ORPHA:1297
HP:0100798	Fingernail dysplasia	8626	TP63	ORPHA:978
HP:0100798	Fingernail dysplasia	64359	NXN	ORPHA:1507
HP:0100798	Fingernail dysplasia	4920	ROR2	ORPHA:1507
HP:0100798	Fingernail dysplasia	3868	KRT16	ORPHA:2309
HP:0100798	Fingernail dysplasia	3872	KRT17	ORPHA:2309
HP:0100798	Fingernail dysplasia	3853	KRT6A	ORPHA:2309
HP:0100798	Fingernail dysplasia	3854	KRT6B	ORPHA:2309
HP:0100799	Neoplasm of the middle ear	6850	SYK	OMIM:619381
HP:0100799	Neoplasm of the middle ear	4784	NFIX	OMIM:602535
HP:0100799	Neoplasm of the middle ear	9382	COG1	OMIM:611209
HP:0100799	Neoplasm of the middle ear	7080	NKX2-1	OMIM:610978
HP:0100799	Neoplasm of the middle ear	2138	EYA1	OMIM:113650
HP:0100799	Neoplasm of the middle ear	6495	SIX1	OMIM:113650
HP:0100799	Neoplasm of the middle ear	4921	DDR2	OMIM:618175
HP:0100799	Neoplasm of the middle ear	54914	FOCAD	OMIM:619991
HP:0100799	Neoplasm of the middle ear	64324	NSD1	ORPHA:821
HP:0100799	Neoplasm of the middle ear	29072	SETD2	ORPHA:821
HP:0100799	Neoplasm of the middle ear	10297	APC2	ORPHA:821
HP:0001049	Absent dorsal skin creases over affected joints	50515	CHST11	OMIM:618167
HP:0001048	Cavernous hemangioma	2658	GDF2	ORPHA:774
HP:0001048	Cavernous hemangioma	94	ACVRL1	ORPHA:774
HP:0001048	Cavernous hemangioma	4089	SMAD4	ORPHA:774
HP:0001048	Cavernous hemangioma	2022	ENG	ORPHA:774
HP:0001048	Cavernous hemangioma	10483	SEC23B	ORPHA:201
HP:0001048	Cavernous hemangioma	5728	PTEN	ORPHA:201
HP:0001048	Cavernous hemangioma	6390	SDHB	ORPHA:201
HP:0001048	Cavernous hemangioma	6392	SDHD	ORPHA:201
HP:0001048	Cavernous hemangioma	6391	SDHC	ORPHA:201
HP:0001048	Cavernous hemangioma	207	AKT1	ORPHA:201
HP:0001048	Cavernous hemangioma	205717	USF3	ORPHA:201
HP:0001048	Cavernous hemangioma	100144748	KLLN	ORPHA:201
HP:0001048	Cavernous hemangioma	3265	HRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	3845	KRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	3845	KRAS	ORPHA:1340
HP:0001048	Cavernous hemangioma	4893	NRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	7010	TEK	ORPHA:1059
HP:0001048	Cavernous hemangioma	4851	NOTCH1	OMIM:616028
HP:0001048	Cavernous hemangioma	673	BRAF	OMIM:115150
HP:0001048	Cavernous hemangioma	673	BRAF	ORPHA:1340
HP:0001048	Cavernous hemangioma	5604	MAP2K1	ORPHA:1340
HP:0001048	Cavernous hemangioma	5605	MAP2K2	ORPHA:1340
HP:0001048	Cavernous hemangioma	79158	GNPTAB	OMIM:252500
HP:0001048	Cavernous hemangioma	55901	THSD1	OMIM:620244
HP:0001048	Cavernous hemangioma	274	BIN1	ORPHA:169189
HP:0001048	Cavernous hemangioma	64419	MTMR14	ORPHA:169189
HP:0001048	Cavernous hemangioma	4618	MYF6	ORPHA:169189
HP:0001048	Cavernous hemangioma	1785	DNM2	ORPHA:169189
HP:0001048	Cavernous hemangioma	6261	RYR1	ORPHA:169189
HP:0001048	Cavernous hemangioma	3239	HOXD13	ORPHA:887
HP:0001048	Cavernous hemangioma	157570	ESCO2	OMIM:268300
HP:0001048	Cavernous hemangioma	3417	IDH1	ORPHA:99646
HP:0001048	Cavernous hemangioma	490	ATP2B1	OMIM:619910
HP:0001048	Cavernous hemangioma	5290	PIK3CA	OMIM:619538
HP:0001048	Cavernous hemangioma	889	KRIT1	OMIM:116860
HP:0001048	Cavernous hemangioma	11235	PDCD10	OMIM:603285
HP:0001048	Cavernous hemangioma	83605	CCM2	OMIM:603284
HP:0001045	Vitiligo	64421	DCLRE1C	ORPHA:275
HP:0001045	Vitiligo	4558	MT-TF	ORPHA:550
HP:0001045	Vitiligo	4572	MT-TQ	ORPHA:550
HP:0001045	Vitiligo	4512	MT-CO1	ORPHA:550
HP:0001045	Vitiligo	4513	MT-CO2	ORPHA:550
HP:0001045	Vitiligo	4514	MT-CO3	ORPHA:550
HP:0001045	Vitiligo	4578	MT-TW	ORPHA:550
HP:0001045	Vitiligo	4540	MT-ND5	ORPHA:550
HP:0001045	Vitiligo	4541	MT-ND6	ORPHA:550
HP:0001045	Vitiligo	4535	MT-ND1	ORPHA:550
HP:0001045	Vitiligo	4538	MT-ND4	ORPHA:550
HP:0001045	Vitiligo	4567	MT-TL1	ORPHA:550
HP:0001045	Vitiligo	4574	MT-TS1	ORPHA:550
HP:0001045	Vitiligo	4575	MT-TS2	ORPHA:550
HP:0001045	Vitiligo	4564	MT-TH	ORPHA:550
HP:0001045	Vitiligo	54	ACP5	OMIM:607944
HP:0001045	Vitiligo	54	ACP5	ORPHA:1855
HP:0001045	Vitiligo	22861	NLRP1	OMIM:606579
HP:0001045	Vitiligo	4791	NFKB2	ORPHA:293978
HP:0001045	Vitiligo	326	AIRE	OMIM:240300
HP:0001045	Vitiligo	284058	KANSL1	ORPHA:363958
HP:0001045	Vitiligo	284058	KANSL1	ORPHA:363965
HP:0001045	Vitiligo	84464	SLX4	OMIM:613951
HP:0001045	Vitiligo	847	CAT	ORPHA:926
HP:0001045	Vitiligo	4254	KITLG	OMIM:145250
HP:0001045	Vitiligo	5336	PLCG2	OMIM:614468
HP:0001045	Vitiligo	987	LRBA	OMIM:614700
HP:0001045	Vitiligo	23126	POGZ	ORPHA:468678
HP:0001045	Vitiligo	25778	DSTYK	ORPHA:101003
HP:0001045	Vitiligo	25778	DSTYK	OMIM:270750
HP:0001045	Vitiligo	27022	FOXD3	OMIM:607836
HP:0001045	Vitiligo	7852	CXCR4	ORPHA:51636
HP:0001045	Vitiligo	28755	TRAC	OMIM:615387
HP:0001045	Vitiligo	355	FAS	ORPHA:3437
HP:0001045	Vitiligo	26191	PTPN22	ORPHA:3437
HP:0001045	Vitiligo	56259	CTNNBL1	OMIM:619846
HP:0001045	Vitiligo	23065	EMC1	ORPHA:480898
HP:0001045	Vitiligo	4683	NBN	OMIM:251260
HP:0007443	Partial albinism	4286	MITF	OMIM:193510
HP:0007443	Partial albinism	7306	TYRP1	OMIM:203290
HP:0007443	Partial albinism	5077	PAX3	OMIM:193500
HP:0007443	Partial albinism	5077	PAX3	OMIM:148820
HP:0007443	Partial albinism	4644	MYO5A	ORPHA:79476
HP:0007443	Partial albinism	4644	MYO5A	ORPHA:79478
HP:0007443	Partial albinism	5873	RAB27A	ORPHA:79477
HP:0007443	Partial albinism	28956	LAMTOR2	ORPHA:90023
HP:0007443	Partial albinism	79083	MLPH	ORPHA:79478
HP:0007443	Partial albinism	3815	KIT	OMIM:172800
HP:0001047	Atopic dermatitis	2615	LRRC32	OMIM:619074
HP:0001047	Atopic dermatitis	84905	ZNF341	OMIM:618282
HP:0001047	Atopic dermatitis	388698	FLG2	OMIM:618084
HP:0001047	Atopic dermatitis	3572	IL6ST	OMIM:619752
HP:0001047	Atopic dermatitis	10526	IPO8	OMIM:619472
HP:0001047	Atopic dermatitis	91754	NEK9	OMIM:614262
HP:0001047	Atopic dermatitis	1041	CDSN	ORPHA:90368
HP:0001047	Atopic dermatitis	121391	KRT74	ORPHA:90368
HP:0001047	Atopic dermatitis	5238	PGM3	ORPHA:443811
HP:0001047	Atopic dermatitis	673	BRAF	OMIM:115150
HP:0001047	Atopic dermatitis	84433	CARD11	OMIM:617638
HP:0001047	Atopic dermatitis	22800	RRAS2	OMIM:618624
HP:0001047	Atopic dermatitis	3570	IL6R	OMIM:618944
HP:0001047	Atopic dermatitis	8456	FOXN1	OMIM:618806
HP:0001047	Atopic dermatitis	10060	ABCC9	OMIM:619719
HP:0001047	Atopic dermatitis	3514	IGKC	ORPHA:183675
HP:0001047	Atopic dermatitis	3501	IGHG2	ORPHA:183675
HP:0001047	Atopic dermatitis	1080	CFTR	ORPHA:498359
HP:0001047	Atopic dermatitis	81704	DOCK8	OMIM:243700
HP:0001047	Atopic dermatitis	81704	DOCK8	ORPHA:217390
HP:0001047	Atopic dermatitis	10847	SRCAP	OMIM:136140
HP:0001047	Atopic dermatitis	6340	SCNN1G	ORPHA:171876
HP:0001047	Atopic dermatitis	6337	SCNN1A	ORPHA:171876
HP:0001047	Atopic dermatitis	6338	SCNN1B	ORPHA:171876
HP:0001047	Atopic dermatitis	23102	TBC1D2B	ORPHA:397973
HP:0001047	Atopic dermatitis	3848	KRT1	ORPHA:530838
HP:0001047	Atopic dermatitis	3313	HSPA9	OMIM:616854
HP:0001047	Atopic dermatitis	22880	MORC2	ORPHA:466768
HP:0001047	Atopic dermatitis	64135	IFIH1	OMIM:615846
HP:0001047	Atopic dermatitis	2783	GNB2	OMIM:619503
HP:0001047	Atopic dermatitis	3716	JAK1	OMIM:618999
HP:0001046	Intermittent jaundice	5205	ATP8B1	OMIM:243300
HP:0001046	Intermittent jaundice	8647	ABCB11	OMIM:601847
HP:0001046	Intermittent jaundice	28234	SLCO1B3	ORPHA:3111
HP:0001046	Intermittent jaundice	10599	SLCO1B1	ORPHA:3111
HP:0001046	Intermittent jaundice	6710	SPTB	OMIM:617948
HP:0001046	Intermittent jaundice	6521	SLC4A1	ORPHA:3202
HP:0001046	Intermittent jaundice	9780	PIEZO1	ORPHA:3202
HP:0001046	Intermittent jaundice	3783	KCNN4	ORPHA:3202
HP:0001046	Intermittent jaundice	6005	RHAG	ORPHA:3203
HP:0001043	Prominent scalp veins	84168	ANTXR1	OMIM:230740
HP:0001043	Prominent scalp veins	9791	PTDSS1	OMIM:151050
HP:0001043	Prominent scalp veins	11128	POLR3A	OMIM:264090
HP:0001043	Prominent scalp veins	11128	POLR3A	ORPHA:3455
HP:0001042	High axial triradius	1387	CREBBP	OMIM:180849
HP:0001042	High axial triradius	2033	EP300	OMIM:180849
HP:0011268	Absent tragus	23347	SMCHD1	OMIM:603457
HP:0011268	Absent tragus	9343	EFTUD2	ORPHA:79113
HP:0011267	Microtia, third degree	117581	TWIST2	OMIM:200110
HP:0011267	Microtia, third degree	81620	CDT1	ORPHA:2554
HP:0011267	Microtia, third degree	5000	ORC4	ORPHA:2554
HP:0011267	Microtia, third degree	23594	ORC6	ORPHA:2554
HP:0011267	Microtia, third degree	8318	CDC45	ORPHA:2554
HP:0011267	Microtia, third degree	990	CDC6	ORPHA:2554
HP:0011267	Microtia, third degree	4998	ORC1	ORPHA:2554
HP:0011267	Microtia, third degree	51053	GMNN	ORPHA:2554
HP:0011267	Microtia, third degree	2187	FANCB	ORPHA:3412
HP:0011267	Microtia, third degree	26123	TCTN3	ORPHA:2753
HP:0011261	Darwin tubercle of helix	7025	NR2F1	OMIM:615722
HP:0011261	Darwin tubercle of helix	10220	GDF11	OMIM:619122
HP:0011261	Darwin tubercle of helix	8604	SLC25A12	OMIM:612949
HP:0011266	Microtia, first degree	117581	TWIST2	OMIM:209885
HP:0011266	Microtia, first degree	117581	TWIST2	OMIM:200110
HP:0011266	Microtia, first degree	6913	TBX15	OMIM:260660
HP:0011266	Microtia, first degree	9968	MED12	OMIM:305450
HP:0011266	Microtia, first degree	2248	FGF3	OMIM:610706
HP:0011265	Cleft earlobe	4123	MAN2C1	OMIM:619775
HP:0011265	Cleft earlobe	54539	NDUFB11	ORPHA:2556
HP:0011265	Cleft earlobe	1349	COX7B	ORPHA:2556
HP:0011265	Cleft earlobe	3052	HCCS	ORPHA:2556
HP:0008209	Premature ovarian insufficiency	668	FOXL2	OMIM:110100
HP:0008209	Premature ovarian insufficiency	668	FOXL2	ORPHA:572333
HP:0008209	Premature ovarian insufficiency	668	FOXL2	OMIM:608996
HP:0008209	Premature ovarian insufficiency	355	FAS	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	356	FASLG	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	5580	PRKCD	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	843	CASP10	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	10125	RASGRP1	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	55213	RCBTB1	OMIM:617175
HP:0008209	Premature ovarian insufficiency	1730	DIAPH2	OMIM:300511
HP:0008209	Premature ovarian insufficiency	9210	BMP15	OMIM:300510
HP:0008209	Premature ovarian insufficiency	9210	BMP15	ORPHA:243
HP:0008209	Premature ovarian insufficiency	4683	NBN	OMIM:251260
HP:0008209	Premature ovarian insufficiency	9453	GGPS1	OMIM:619518
HP:0008209	Premature ovarian insufficiency	84515	MCM8	OMIM:612885
HP:0008209	Premature ovarian insufficiency	2592	GALT	OMIM:230400
HP:0008209	Premature ovarian insufficiency	2592	GALT	ORPHA:79239
HP:0008209	Premature ovarian insufficiency	2516	NR5A1	OMIM:612964
HP:0008209	Premature ovarian insufficiency	2516	NR5A1	ORPHA:243
HP:0008209	Premature ovarian insufficiency	125150	ZSWIM7	OMIM:619834
HP:0008209	Premature ovarian insufficiency	125150	ZSWIM7	ORPHA:243
HP:0008209	Premature ovarian insufficiency	64682	ANAPC1	OMIM:618625
HP:0008209	Premature ovarian insufficiency	64682	ANAPC1	ORPHA:221008
HP:0008209	Premature ovarian insufficiency	80067	DCAF17	ORPHA:3464
HP:0008209	Premature ovarian insufficiency	80067	DCAF17	OMIM:241080
HP:0008209	Premature ovarian insufficiency	84570	COL25A1	ORPHA:91411
HP:0008209	Premature ovarian insufficiency	79776	ZFHX4	ORPHA:91411
HP:0008209	Premature ovarian insufficiency	79228	THOC6	ORPHA:363444
HP:0008209	Premature ovarian insufficiency	79228	THOC6	OMIM:613680
HP:0008209	Premature ovarian insufficiency	11077	HSF2BP	OMIM:619245
HP:0008209	Premature ovarian insufficiency	54453	RIN2	ORPHA:217335
HP:0008209	Premature ovarian insufficiency	317761	C14orf39	OMIM:619203
HP:0008209	Premature ovarian insufficiency	79983	POF1B	OMIM:300604
HP:0008209	Premature ovarian insufficiency	2332	FMR1	OMIM:311360
HP:0008209	Premature ovarian insufficiency	2332	FMR1	ORPHA:261483
HP:0008209	Premature ovarian insufficiency	2332	FMR1	OMIM:300623
HP:0008209	Premature ovarian insufficiency	57505	AARS2	OMIM:615889
HP:0008209	Premature ovarian insufficiency	164045	HFM1	OMIM:615724
HP:0008209	Premature ovarian insufficiency	10734	STAG3	OMIM:615723
HP:0008209	Premature ovarian insufficiency	11261	CHP1	OMIM:618438
HP:0008209	Premature ovarian insufficiency	8888	MCM3AP	OMIM:618124
HP:0008209	Premature ovarian insufficiency	326	AIRE	OMIM:240300
HP:0008209	Premature ovarian insufficiency	51434	ANAPC7	OMIM:619699
HP:0008209	Premature ovarian insufficiency	646	BNC1	OMIM:618723
HP:0008209	Premature ovarian insufficiency	646	BNC1	ORPHA:243
HP:0008209	Premature ovarian insufficiency	2072	ERCC4	OMIM:610965
HP:0008209	Premature ovarian insufficiency	55750	AGK	OMIM:212350
HP:0008209	Premature ovarian insufficiency	56652	TWNK	OMIM:609286
HP:0008209	Premature ovarian insufficiency	1967	EIF2B1	OMIM:603896
HP:0008209	Premature ovarian insufficiency	29893	PSMC3IP	ORPHA:243
HP:0008209	Premature ovarian insufficiency	171568	POLR3H	ORPHA:243
HP:0008209	Premature ovarian insufficiency	57122	NUP107	ORPHA:243
HP:0008209	Premature ovarian insufficiency	23514	SPIDR	ORPHA:243
HP:0008209	Premature ovarian insufficiency	23514	SPIDR	OMIM:619665
HP:0008209	Premature ovarian insufficiency	2492	FSHR	ORPHA:243
HP:0008209	Premature ovarian insufficiency	56945	MRPS22	ORPHA:243
HP:0008209	Premature ovarian insufficiency	641	BLM	ORPHA:125
HP:0008209	Premature ovarian insufficiency	2583	B4GALNT1	ORPHA:101006
HP:0008209	Premature ovarian insufficiency	5428	POLG	OMIM:157640
HP:0008209	Premature ovarian insufficiency	7516	XRCC2	OMIM:619146
HP:0008209	Premature ovarian insufficiency	26284	ERAL1	OMIM:617565
HP:0008209	Premature ovarian insufficiency	23395	LARS2	OMIM:615300
HP:0008209	Premature ovarian insufficiency	344018	FIGLA	OMIM:612310
HP:0008209	Premature ovarian insufficiency	11232	POLG2	OMIM:619425
HP:0008209	Premature ovarian insufficiency	4000	LMNA	ORPHA:79474
HP:0008209	Premature ovarian insufficiency	26146	TRAF3IP1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	9657	IQCB1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	10806	SDCCAG8	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	27130	INVS	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	80184	CEP290	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	4867	NPHP1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	261734	NPHP4	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	57728	WDR19	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	27031	NPHP3	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	22897	CEP164	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	135935	NOBOX	OMIM:611548
HP:0008209	Premature ovarian insufficiency	5373	PMM2	OMIM:212065
HP:0008209	Premature ovarian insufficiency	2584	GALK1	ORPHA:79237
HP:0008209	Premature ovarian insufficiency	80185	TTI2	ORPHA:391307
HP:0001050	Plethora	3717	JAK2	OMIM:133100
HP:0001050	Plethora	10019	SH2B3	OMIM:133100
HP:0001050	Plethora	2057	EPOR	OMIM:133100
HP:0001050	Plethora	79798	ARMC5	ORPHA:189427
HP:0001050	Plethora	2778	GNAS	ORPHA:189427
HP:0001050	Plethora	5566	PRKACA	ORPHA:189439
HP:0001050	Plethora	8622	PDE8B	ORPHA:189439
HP:0001050	Plethora	5573	PRKAR1A	ORPHA:189439
HP:0001050	Plethora	50940	PDE11A	ORPHA:189439
HP:0001050	Plethora	84196	USP48	ORPHA:96253
HP:0001050	Plethora	7157	TP53	ORPHA:96253
HP:0001050	Plethora	9101	USP8	ORPHA:96253
HP:0001050	Plethora	64072	CDH23	ORPHA:96253
HP:0001050	Plethora	2908	NR3C1	ORPHA:96253
HP:0001050	Plethora	673	BRAF	ORPHA:96253
HP:0001050	Plethora	546	ATRX	ORPHA:96253
HP:0001050	Plethora	7428	VHL	OMIM:263400
HP:0001051	Seborrheic dermatitis	5290	PIK3CA	ORPHA:276280
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	OMIM:614441
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	OMIM:167100
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	ORPHA:2796
HP:0001051	Seborrheic dermatitis	7922	SLC39A7	OMIM:619693
HP:0001051	Seborrheic dermatitis	686	BTD	OMIM:253260
HP:0001051	Seborrheic dermatitis	79755	ZNF750	OMIM:610227
HP:0001051	Seborrheic dermatitis	64087	MCCC2	OMIM:210210
HP:0001051	Seborrheic dermatitis	9939	RBM8A	OMIM:274000
HP:0001051	Seborrheic dermatitis	3248	HPGD	OMIM:259100
HP:0001051	Seborrheic dermatitis	3248	HPGD	ORPHA:2796
HP:0001051	Seborrheic dermatitis	1312	COMT	ORPHA:567
HP:0001051	Seborrheic dermatitis	221037	JMJD1C	ORPHA:567
HP:0001051	Seborrheic dermatitis	2812	GP1BB	ORPHA:567
HP:0001051	Seborrheic dermatitis	6239	RREB1	ORPHA:567
HP:0001051	Seborrheic dermatitis	6899	TBX1	ORPHA:567
HP:0001051	Seborrheic dermatitis	6899	TBX1	OMIM:188400
HP:0001051	Seborrheic dermatitis	7290	HIRA	ORPHA:567
HP:0001051	Seborrheic dermatitis	9632	SEC24C	ORPHA:567
HP:0001051	Seborrheic dermatitis	7353	UFD1	ORPHA:567
HP:0001051	Seborrheic dermatitis	421	ARVCF	ORPHA:567
HP:0001051	Seborrheic dermatitis	11322	TMC6	ORPHA:302
HP:0001051	Seborrheic dermatitis	3574	IL7	ORPHA:302
HP:0001051	Seborrheic dermatitis	147138	TMC8	ORPHA:302
HP:0001051	Seborrheic dermatitis	10519	CIB1	ORPHA:302
HP:0001051	Seborrheic dermatitis	5277	PIGA	OMIM:300868
HP:0001051	Seborrheic dermatitis	5277	PIGA	OMIM:301072
HP:0001051	Seborrheic dermatitis	146206	CARMIL2	OMIM:618131
HP:0001051	Seborrheic dermatitis	10758	TRAF3IP2	OMIM:615527
HP:0001051	Seborrheic dermatitis	7086	TKT	ORPHA:488618
HP:0001051	Seborrheic dermatitis	727	C5	OMIM:609536
HP:0001052	Nevus flammeus	4920	ROR2	OMIM:268310
HP:0001052	Nevus flammeus	4920	ROR2	ORPHA:1507
HP:0001052	Nevus flammeus	22827	PUF60	ORPHA:508498
HP:0001052	Nevus flammeus	80267	EDEM3	OMIM:619493
HP:0001052	Nevus flammeus	1028	CDKN1C	OMIM:130650
HP:0001052	Nevus flammeus	10984	KCNQ1OT1	OMIM:130650
HP:0001052	Nevus flammeus	3481	IGF2	OMIM:130650
HP:0001052	Nevus flammeus	3481	IGF2	ORPHA:231140
HP:0001052	Nevus flammeus	3784	KCNQ1	OMIM:130650
HP:0001052	Nevus flammeus	5290	PIK3CA	ORPHA:60040
HP:0001052	Nevus flammeus	91754	NEK9	ORPHA:64754
HP:0001052	Nevus flammeus	6804	STX1A	ORPHA:904
HP:0001052	Nevus flammeus	7461	CLIP2	ORPHA:904
HP:0001052	Nevus flammeus	84277	DNAJC30	ORPHA:904
HP:0001052	Nevus flammeus	8468	FKBP6	ORPHA:904
HP:0001052	Nevus flammeus	5982	RFC2	ORPHA:904
HP:0001052	Nevus flammeus	2969	GTF2I	ORPHA:904
HP:0001052	Nevus flammeus	3984	LIMK1	ORPHA:904
HP:0001052	Nevus flammeus	9569	GTF2IRD1	ORPHA:904
HP:0001052	Nevus flammeus	155382	VPS37D	ORPHA:904
HP:0001052	Nevus flammeus	155368	METTL27	ORPHA:904
HP:0001052	Nevus flammeus	114049	BUD23	ORPHA:904
HP:0001052	Nevus flammeus	7458	EIF4H	ORPHA:904
HP:0001052	Nevus flammeus	84163	GTF2IRD2	ORPHA:904
HP:0001052	Nevus flammeus	9275	BCL7B	ORPHA:904
HP:0001052	Nevus flammeus	26608	TBL2	ORPHA:904
HP:0001052	Nevus flammeus	653361	NCF1	ORPHA:904
HP:0001052	Nevus flammeus	135886	TMEM270	ORPHA:904
HP:0001052	Nevus flammeus	51085	MLXIPL	ORPHA:904
HP:0001052	Nevus flammeus	9031	BAZ1B	ORPHA:904
HP:0001052	Nevus flammeus	2006	ELN	ORPHA:904
HP:0001052	Nevus flammeus	2260	FGFR1	ORPHA:2396
HP:0001052	Nevus flammeus	3845	KRAS	ORPHA:2396
HP:0001052	Nevus flammeus	64359	NXN	ORPHA:1507
HP:0001052	Nevus flammeus	2776	GNAQ	OMIM:163000
HP:0001052	Nevus flammeus	2776	GNAQ	ORPHA:624
HP:0001052	Nevus flammeus	7474	WNT5A	OMIM:180700
HP:0001052	Nevus flammeus	1855	DVL1	OMIM:180700
HP:0001052	Nevus flammeus	283120	H19	ORPHA:231140
HP:0001052	Nevus flammeus	171023	ASXL1	ORPHA:97297
HP:0001052	Nevus flammeus	171023	ASXL1	OMIM:605039
HP:0001052	Nevus flammeus	1836	SLC26A2	OMIM:222600
HP:0001052	Nevus flammeus	7043	TGFB3	OMIM:615582
HP:0001052	Nevus flammeus	26040	SETBP1	OMIM:616078
HP:0001052	Nevus flammeus	4591	TRIM37	OMIM:253250
HP:0001052	Nevus flammeus	1545	CYP1B1	ORPHA:98976
HP:0001052	Nevus flammeus	4053	LTBP2	ORPHA:98976
HP:0001052	Nevus flammeus	4653	MYOC	ORPHA:98976
HP:0001052	Nevus flammeus	7010	TEK	ORPHA:98976
HP:0001052	Nevus flammeus	9126	SMC3	OMIM:610759
HP:0001052	Nevus flammeus	55252	ASXL2	OMIM:617190
HP:0001052	Nevus flammeus	81857	MED25	ORPHA:464738
HP:0001052	Nevus flammeus	81857	MED25	OMIM:616449
HP:0001052	Nevus flammeus	3930	LBR	OMIM:618019
HP:0001052	Nevus flammeus	118924	FRA10AC1	OMIM:620113
HP:0001052	Nevus flammeus	9939	RBM8A	ORPHA:3320
HP:0001052	Nevus flammeus	9939	RBM8A	OMIM:274000
HP:0001052	Nevus flammeus	5354	PLP1	ORPHA:280229
HP:0001052	Nevus flammeus	8621	CDK13	OMIM:617360
HP:0001052	Nevus flammeus	8558	CDK10	OMIM:617694
HP:0001052	Nevus flammeus	1857	DVL3	ORPHA:3107
HP:0001052	Nevus flammeus	2535	FZD2	ORPHA:3107
HP:0001052	Nevus flammeus	129563	DIS3L2	ORPHA:2849
HP:0001053	Hypopigmented skin patches	57167	SALL4	ORPHA:233
HP:0001053	Hypopigmented skin patches	9935	MAFB	ORPHA:233
HP:0001053	Hypopigmented skin patches	1123	CHN1	ORPHA:233
HP:0001053	Hypopigmented skin patches	4254	KITLG	OMIM:145250
HP:0001053	Hypopigmented skin patches	4254	KITLG	ORPHA:895
HP:0001053	Hypopigmented skin patches	2261	FGFR3	ORPHA:53271
HP:0001053	Hypopigmented skin patches	4157	MC1R	ORPHA:626
HP:0001053	Hypopigmented skin patches	4893	NRAS	ORPHA:626
HP:0001053	Hypopigmented skin patches	1235	CCR6	ORPHA:220402
HP:0001053	Hypopigmented skin patches	79932	KIAA0319L	ORPHA:220402
HP:0001053	Hypopigmented skin patches	1490	CCN2	ORPHA:220402
HP:0001053	Hypopigmented skin patches	3663	IRF5	ORPHA:220402
HP:0001053	Hypopigmented skin patches	857	CAV1	ORPHA:220402
HP:0001053	Hypopigmented skin patches	3123	HLA-DRB1	ORPHA:220402
HP:0001053	Hypopigmented skin patches	11322	TMC6	ORPHA:302
HP:0001053	Hypopigmented skin patches	3574	IL7	ORPHA:302
HP:0001053	Hypopigmented skin patches	147138	TMC8	ORPHA:302
HP:0001053	Hypopigmented skin patches	10519	CIB1	ORPHA:302
HP:0001053	Hypopigmented skin patches	6925	TCF4	ORPHA:2896
HP:0001053	Hypopigmented skin patches	8517	IKBKG	ORPHA:464
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:613266
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:609136
HP:0001053	Hypopigmented skin patches	6663	SOX10	ORPHA:895
HP:0001053	Hypopigmented skin patches	6663	SOX10	ORPHA:163746
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:611584
HP:0001053	Hypopigmented skin patches	1908	EDN3	OMIM:613265
HP:0001053	Hypopigmented skin patches	6608	SMO	ORPHA:1553
HP:0001053	Hypopigmented skin patches	1910	EDNRB	OMIM:277580
HP:0001053	Hypopigmented skin patches	1910	EDNRB	ORPHA:895
HP:0001053	Hypopigmented skin patches	326	AIRE	ORPHA:3453
HP:0001053	Hypopigmented skin patches	6591	SNAI2	ORPHA:2884
HP:0001053	Hypopigmented skin patches	6591	SNAI2	ORPHA:895
HP:0001053	Hypopigmented skin patches	3815	KIT	ORPHA:2884
HP:0001053	Hypopigmented skin patches	695	BTK	ORPHA:47
HP:0001053	Hypopigmented skin patches	4286	MITF	ORPHA:895
HP:0001053	Hypopigmented skin patches	7299	TYR	ORPHA:895
HP:0001053	Hypopigmented skin patches	5077	PAX3	ORPHA:894
HP:0001053	Hypopigmented skin patches	5077	PAX3	OMIM:148820
HP:0001053	Hypopigmented skin patches	340024	SLC6A19	ORPHA:2116
HP:0001053	Hypopigmented skin patches	57393	CLTRN	ORPHA:2116
HP:0001053	Hypopigmented skin patches	5116	PCNT	ORPHA:2637
HP:0001053	Hypopigmented skin patches	2263	FGFR2	ORPHA:207
HP:0001053	Hypopigmented skin patches	2077	ERF	ORPHA:207
HP:0001053	Hypopigmented skin patches	2581	GALC	ORPHA:206436
HP:0001053	Hypopigmented skin patches	5660	PSAP	ORPHA:206436
HP:0001053	Hypopigmented skin patches	672	BRCA1	ORPHA:84
HP:0001053	Hypopigmented skin patches	10459	MAD2L2	ORPHA:84
HP:0001053	Hypopigmented skin patches	7516	XRCC2	ORPHA:84
HP:0001053	Hypopigmented skin patches	29089	UBE2T	ORPHA:84
HP:0001053	Hypopigmented skin patches	675	BRCA2	ORPHA:84
HP:0001053	Hypopigmented skin patches	55120	FANCL	ORPHA:84
HP:0001053	Hypopigmented skin patches	2177	FANCD2	ORPHA:84
HP:0001053	Hypopigmented skin patches	2175	FANCA	ORPHA:84
HP:0001053	Hypopigmented skin patches	2187	FANCB	ORPHA:84
HP:0001053	Hypopigmented skin patches	2176	FANCC	ORPHA:84
HP:0001053	Hypopigmented skin patches	2178	FANCE	ORPHA:84
HP:0001053	Hypopigmented skin patches	2188	FANCF	ORPHA:84
HP:0001053	Hypopigmented skin patches	2189	FANCG	ORPHA:84
HP:0001053	Hypopigmented skin patches	5888	RAD51	ORPHA:84
HP:0001053	Hypopigmented skin patches	5889	RAD51C	ORPHA:84
HP:0001053	Hypopigmented skin patches	55159	RFWD3	ORPHA:84
HP:0001053	Hypopigmented skin patches	83990	BRIP1	ORPHA:84
HP:0001053	Hypopigmented skin patches	57697	FANCM	ORPHA:84
HP:0001053	Hypopigmented skin patches	79728	PALB2	ORPHA:84
HP:0001053	Hypopigmented skin patches	84464	SLX4	ORPHA:84
HP:0001053	Hypopigmented skin patches	2072	ERCC4	ORPHA:84
HP:0001053	Hypopigmented skin patches	2072	ERCC4	ORPHA:910
HP:0001053	Hypopigmented skin patches	55215	FANCI	ORPHA:84
HP:0001053	Hypopigmented skin patches	1312	COMT	ORPHA:567
HP:0001053	Hypopigmented skin patches	221037	JMJD1C	ORPHA:567
HP:0001053	Hypopigmented skin patches	2812	GP1BB	ORPHA:567
HP:0001053	Hypopigmented skin patches	6239	RREB1	ORPHA:567
HP:0001053	Hypopigmented skin patches	6899	TBX1	ORPHA:567
HP:0001053	Hypopigmented skin patches	7290	HIRA	ORPHA:567
HP:0001053	Hypopigmented skin patches	9632	SEC24C	ORPHA:567
HP:0001053	Hypopigmented skin patches	7353	UFD1	ORPHA:567
HP:0001053	Hypopigmented skin patches	421	ARVCF	ORPHA:567
HP:0001053	Hypopigmented skin patches	54539	NDUFB11	ORPHA:2556
HP:0001053	Hypopigmented skin patches	1349	COX7B	ORPHA:2556
HP:0001053	Hypopigmented skin patches	3052	HCCS	ORPHA:2556
HP:0001053	Hypopigmented skin patches	10483	SEC23B	ORPHA:201
HP:0001053	Hypopigmented skin patches	5728	PTEN	ORPHA:201
HP:0001053	Hypopigmented skin patches	6390	SDHB	ORPHA:201
HP:0001053	Hypopigmented skin patches	6392	SDHD	ORPHA:201
HP:0001053	Hypopigmented skin patches	6391	SDHC	ORPHA:201
HP:0001053	Hypopigmented skin patches	207	AKT1	ORPHA:201
HP:0001053	Hypopigmented skin patches	205717	USF3	ORPHA:201
HP:0001053	Hypopigmented skin patches	5290	PIK3CA	ORPHA:201
HP:0001053	Hypopigmented skin patches	100144748	KLLN	ORPHA:201
HP:0001053	Hypopigmented skin patches	117581	TWIST2	ORPHA:1807
HP:0001053	Hypopigmented skin patches	10058	ABCB6	ORPHA:241
HP:0001053	Hypopigmented skin patches	80169	CTC1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	26277	TINF2	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55651	NHP2	ORPHA:1775
HP:0001053	Hypopigmented skin patches	79650	USB1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55135	WRAP53	ORPHA:1775
HP:0001053	Hypopigmented skin patches	51750	RTEL1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	4869	NPM1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7012	TERC	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55505	NOP10	ORPHA:1775
HP:0001053	Hypopigmented skin patches	5073	PARN	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7015	TERT	ORPHA:1775
HP:0001053	Hypopigmented skin patches	1736	DKC1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7298	TYMS	ORPHA:1775
HP:0001053	Hypopigmented skin patches	355	FAS	ORPHA:3437
HP:0001053	Hypopigmented skin patches	26191	PTPN22	ORPHA:3437
HP:0001053	Hypopigmented skin patches	2475	MTOR	ORPHA:457485
HP:0001053	Hypopigmented skin patches	84168	ANTXR1	ORPHA:2067
HP:0001053	Hypopigmented skin patches	1493	CTLA4	ORPHA:2584
HP:0001053	Hypopigmented skin patches	940	CD28	ORPHA:2584
HP:0001053	Hypopigmented skin patches	7133	TNFRSF1B	ORPHA:2584
HP:0001053	Hypopigmented skin patches	2068	ERCC2	ORPHA:910
HP:0001053	Hypopigmented skin patches	7507	XPA	ORPHA:910
HP:0001053	Hypopigmented skin patches	2071	ERCC3	ORPHA:910
HP:0001053	Hypopigmented skin patches	7508	XPC	ORPHA:910
HP:0001053	Hypopigmented skin patches	1643	DDB2	ORPHA:910
HP:0001053	Hypopigmented skin patches	2073	ERCC5	ORPHA:910
HP:0001053	Hypopigmented skin patches	1075	CTSC	ORPHA:678
HP:0001053	Hypopigmented skin patches	10682	EBP	ORPHA:401973
HP:0001053	Hypopigmented skin patches	10682	EBP	OMIM:300960
HP:0001053	Hypopigmented skin patches	7319	UBE2A	OMIM:300860
HP:0001053	Hypopigmented skin patches	641	BLM	OMIM:210900
HP:0001053	Hypopigmented skin patches	55612	FERMT1	OMIM:173650
HP:0001053	Hypopigmented skin patches	9419	CRIPT	OMIM:615789
HP:0001053	Hypopigmented skin patches	3852	KRT5	ORPHA:79397
HP:0001053	Hypopigmented skin patches	3852	KRT5	ORPHA:79399
HP:0001053	Hypopigmented skin patches	3861	KRT14	ORPHA:79397
HP:0001053	Hypopigmented skin patches	3861	KRT14	ORPHA:79399
HP:0001053	Hypopigmented skin patches	10060	ABCC9	OMIM:619719
HP:0001053	Hypopigmented skin patches	54	ACP5	OMIM:607944
HP:0001054	Numerous nevi	7703	PCGF2	OMIM:618371
HP:0001054	Numerous nevi	284058	KANSL1	ORPHA:363965
HP:0001054	Numerous nevi	284058	KANSL1	ORPHA:363958
HP:0001054	Numerous nevi	6794	STK11	OMIM:155600
HP:0001054	Numerous nevi	673	BRAF	OMIM:155600
HP:0001054	Numerous nevi	673	BRAF	OMIM:115150
HP:0001054	Numerous nevi	673	BRAF	OMIM:613707
HP:0001054	Numerous nevi	673	BRAF	OMIM:613706
HP:0001054	Numerous nevi	1019	CDK4	OMIM:609048
HP:0001054	Numerous nevi	2261	FGFR3	OMIM:162900
HP:0001054	Numerous nevi	5290	PIK3CA	OMIM:162900
HP:0001054	Numerous nevi	4893	NRAS	OMIM:162900
HP:0001054	Numerous nevi	3265	HRAS	OMIM:162900
HP:0001055	Erysipelas	4210	MEFV	ORPHA:342
HP:0001055	Erysipelas	4210	MEFV	OMIM:249100
HP:0001055	Erysipelas	4210	MEFV	OMIM:134610
HP:0001055	Erysipelas	3832	KIF11	ORPHA:2526
HP:0001055	Erysipelas	9508	ADAMTS3	ORPHA:2136
HP:0001055	Erysipelas	147372	CCBE1	ORPHA:2136
HP:0001055	Erysipelas	147372	CCBE1	OMIM:235510
HP:0001055	Erysipelas	79633	FAT4	ORPHA:2136
HP:0001055	Erysipelas	7132	TNFRSF1A	OMIM:142680
HP:0001055	Erysipelas	7132	TNFRSF1A	ORPHA:32960
HP:0001055	Erysipelas	2324	FLT4	ORPHA:79452
HP:0001055	Erysipelas	57165	GJC2	ORPHA:79452
HP:0001055	Erysipelas	374393	FAM111B	OMIM:615704
HP:0001056	Milia	3861	KRT14	ORPHA:89838
HP:0001056	Milia	3861	KRT14	OMIM:131760
HP:0001056	Milia	3861	KRT14	ORPHA:79400
HP:0001056	Milia	3861	KRT14	ORPHA:69087
HP:0001056	Milia	3861	KRT14	OMIM:131900
HP:0001056	Milia	3861	KRT14	OMIM:131800
HP:0001056	Milia	3861	KRT14	ORPHA:79396
HP:0001056	Milia	3861	KRT14	ORPHA:79397
HP:0001056	Milia	3861	KRT14	ORPHA:79399
HP:0001056	Milia	55612	FERMT1	ORPHA:2908
HP:0001056	Milia	5339	PLEC	OMIM:226730
HP:0001056	Milia	5339	PLEC	OMIM:226670
HP:0001056	Milia	5339	PLEC	ORPHA:158684
HP:0001056	Milia	3691	ITGB4	OMIM:226730
HP:0001056	Milia	3691	ITGB4	ORPHA:158684
HP:0001056	Milia	3691	ITGB4	ORPHA:79402
HP:0001056	Milia	3691	ITGB4	ORPHA:251393
HP:0001056	Milia	3852	KRT5	OMIM:131760
HP:0001056	Milia	3852	KRT5	ORPHA:79400
HP:0001056	Milia	3852	KRT5	ORPHA:79396
HP:0001056	Milia	3852	KRT5	ORPHA:79397
HP:0001056	Milia	3852	KRT5	ORPHA:79399
HP:0001056	Milia	8481	OFD1	ORPHA:2750
HP:0001056	Milia	8481	OFD1	OMIM:311200
HP:0001056	Milia	56916	SMARCAD1	OMIM:129200
HP:0001056	Milia	56916	SMARCAD1	ORPHA:1658
HP:0001056	Milia	1540	CYLD	OMIM:605041
HP:0001056	Milia	3909	LAMA3	ORPHA:79402
HP:0001056	Milia	3909	LAMA3	OMIM:226700
HP:0001056	Milia	1308	COL17A1	ORPHA:79402
HP:0001056	Milia	1308	COL17A1	ORPHA:79406
HP:0001056	Milia	1308	COL17A1	ORPHA:251393
HP:0001056	Milia	3918	LAMC2	ORPHA:79402
HP:0001056	Milia	3918	LAMC2	OMIM:226700
HP:0001056	Milia	3914	LAMB3	ORPHA:79402
HP:0001056	Milia	3914	LAMB3	OMIM:226700
HP:0001056	Milia	1294	COL7A1	OMIM:604129
HP:0001056	Milia	1294	COL7A1	ORPHA:79408
HP:0001056	Milia	1294	COL7A1	ORPHA:79409
HP:0001056	Milia	1294	COL7A1	OMIM:226600
HP:0001056	Milia	1294	COL7A1	ORPHA:231568
HP:0001056	Milia	1294	COL7A1	ORPHA:89842
HP:0001056	Milia	1294	COL7A1	ORPHA:158673
HP:0001056	Milia	1294	COL7A1	ORPHA:89843
HP:0001056	Milia	1294	COL7A1	OMIM:131750
HP:0001056	Milia	1294	COL7A1	OMIM:131705
HP:0001056	Milia	1294	COL7A1	ORPHA:79410
HP:0001056	Milia	1294	COL7A1	ORPHA:79411
HP:0001056	Milia	4312	MMP1	ORPHA:79408
HP:0001056	Milia	4312	MMP1	OMIM:226600
HP:0001056	Milia	3977	LIFR	OMIM:601559
HP:0001056	Milia	5498	PPOX	ORPHA:79473
HP:0001056	Milia	5727	PTCH1	OMIM:109400
HP:0001057	Aplasia cutis congenita	285203	EOGT	OMIM:615297
HP:0001057	Aplasia cutis congenita	285203	EOGT	ORPHA:974
HP:0001057	Aplasia cutis congenita	5339	PLEC	ORPHA:158684
HP:0001057	Aplasia cutis congenita	5339	PLEC	OMIM:612138
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:158684
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:79403
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:251393
HP:0001057	Aplasia cutis congenita	4851	NOTCH1	OMIM:616028
HP:0001057	Aplasia cutis congenita	4851	NOTCH1	ORPHA:974
HP:0001057	Aplasia cutis congenita	3909	LAMA3	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3909	LAMA3	ORPHA:79404
HP:0001057	Aplasia cutis congenita	1308	COL17A1	ORPHA:79402
HP:0001057	Aplasia cutis congenita	1308	COL17A1	ORPHA:251393
HP:0001057	Aplasia cutis congenita	3918	LAMC2	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3918	LAMC2	ORPHA:79404
HP:0001057	Aplasia cutis congenita	3914	LAMB3	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3914	LAMB3	ORPHA:79404
HP:0001057	Aplasia cutis congenita	3655	ITGA6	ORPHA:79403
HP:0001057	Aplasia cutis congenita	7020	TFAP2A	OMIM:113620
HP:0001057	Aplasia cutis congenita	284252	KCTD1	OMIM:181270
HP:0001057	Aplasia cutis congenita	4312	MMP1	ORPHA:79408
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:79408
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:89842
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:79411
HP:0001057	Aplasia cutis congenita	1832	DSP	OMIM:609638
HP:0001057	Aplasia cutis congenita	3845	KRAS	OMIM:600268
HP:0001057	Aplasia cutis congenita	1349	COX7B	OMIM:300887
HP:0001057	Aplasia cutis congenita	6872	TAF1	OMIM:300966
HP:0001057	Aplasia cutis congenita	3313	HSPA9	OMIM:616854
HP:0001057	Aplasia cutis congenita	3852	KRT5	ORPHA:79396
HP:0001057	Aplasia cutis congenita	3861	KRT14	ORPHA:79396
HP:0001057	Aplasia cutis congenita	57572	DOCK6	OMIM:614219
HP:0001057	Aplasia cutis congenita	57572	DOCK6	ORPHA:974
HP:0001057	Aplasia cutis congenita	3516	RBPJ	OMIM:614814
HP:0001057	Aplasia cutis congenita	3516	RBPJ	ORPHA:974
HP:0001057	Aplasia cutis congenita	54567	DLL4	ORPHA:974
HP:0001057	Aplasia cutis congenita	526	ATP6V1B2	ORPHA:79499
HP:0001057	Aplasia cutis congenita	9790	BMS1	ORPHA:1114
HP:0001057	Aplasia cutis congenita	9790	BMS1	OMIM:107600
HP:0001057	Aplasia cutis congenita	55784	MCTP2	ORPHA:1596
HP:0001057	Aplasia cutis congenita	999	CDH1	OMIM:119580
HP:0001057	Aplasia cutis congenita	79796	ALG9	ORPHA:79328
HP:0001057	Aplasia cutis congenita	197131	UBR1	OMIM:243800
HP:0001057	Aplasia cutis congenita	10815	CPLX1	ORPHA:280
HP:0001057	Aplasia cutis congenita	10815	CPLX1	OMIM:194190
HP:0001057	Aplasia cutis congenita	54872	PIGG	ORPHA:280
HP:0001057	Aplasia cutis congenita	7469	NELFA	ORPHA:280
HP:0001057	Aplasia cutis congenita	1487	CTBP1	ORPHA:280
HP:0001057	Aplasia cutis congenita	1487	CTBP1	OMIM:194190
HP:0001057	Aplasia cutis congenita	3954	LETM1	ORPHA:280
HP:0001057	Aplasia cutis congenita	3954	LETM1	OMIM:194190
HP:0001057	Aplasia cutis congenita	7468	NSD2	ORPHA:280
HP:0001057	Aplasia cutis congenita	7468	NSD2	OMIM:194190
HP:0001057	Aplasia cutis congenita	4488	MSX2	ORPHA:60015
HP:0001057	Aplasia cutis congenita	4488	MSX2	OMIM:168500
HP:0001057	Aplasia cutis congenita	60529	ALX4	ORPHA:60015
HP:0001057	Aplasia cutis congenita	60529	ALX4	OMIM:609597
HP:0001057	Aplasia cutis congenita	10054	UBA2	OMIM:619959
HP:0001057	Aplasia cutis congenita	53834	FGFRL1	OMIM:194190
HP:0001057	Aplasia cutis congenita	57514	ARHGAP31	OMIM:100300
HP:0001058	Poor wound healing	2165	F13B	ORPHA:331
HP:0001058	Poor wound healing	2162	F13A1	ORPHA:331
HP:0001058	Poor wound healing	5880	RAC2	ORPHA:183707
HP:0001058	Poor wound healing	5880	RAC2	OMIM:608203
HP:0001058	Poor wound healing	3689	ITGB2	OMIM:116920
HP:0001058	Poor wound healing	84196	USP48	ORPHA:96253
HP:0001058	Poor wound healing	7157	TP53	ORPHA:96253
HP:0001058	Poor wound healing	9101	USP8	ORPHA:96253
HP:0001058	Poor wound healing	9101	USP8	OMIM:219090
HP:0001058	Poor wound healing	64072	CDH23	ORPHA:96253
HP:0001058	Poor wound healing	2908	NR3C1	ORPHA:96253
HP:0001058	Poor wound healing	673	BRAF	ORPHA:96253
HP:0001058	Poor wound healing	546	ATRX	ORPHA:96253
HP:0001058	Poor wound healing	3835	KIF22	OMIM:603546
HP:0001058	Poor wound healing	1277	COL1A1	OMIM:619115
HP:0001058	Poor wound healing	1277	COL1A1	ORPHA:287
HP:0001058	Poor wound healing	1277	COL1A1	OMIM:130060
HP:0001058	Poor wound healing	5351	PLOD1	OMIM:225400
HP:0001058	Poor wound healing	5351	PLOD1	ORPHA:1900
HP:0001058	Poor wound healing	2629	GBA1	ORPHA:2072
HP:0001058	Poor wound healing	165	AEBP1	OMIM:618000
HP:0001058	Poor wound healing	4803	NGF	ORPHA:64752
HP:0001058	Poor wound healing	4914	NTRK1	ORPHA:64752
HP:0001058	Poor wound healing	4914	NTRK1	OMIM:256800
HP:0001058	Poor wound healing	2157	F8	ORPHA:169802
HP:0001058	Poor wound healing	4000	LMNA	OMIM:212112
HP:0001058	Poor wound healing	29940	DSE	OMIM:615539
HP:0001058	Poor wound healing	2006	ELN	OMIM:123700
HP:0001058	Poor wound healing	10516	FBLN5	OMIM:219100
HP:0001058	Poor wound healing	1289	COL5A1	ORPHA:287
HP:0001058	Poor wound healing	1289	COL5A1	OMIM:130000
HP:0001058	Poor wound healing	1290	COL5A2	ORPHA:287
HP:0001058	Poor wound healing	1303	COL12A1	ORPHA:536516
HP:0001058	Poor wound healing	7148	TNXB	OMIM:606408
HP:0001058	Poor wound healing	5054	SERPINE1	ORPHA:465
HP:0001058	Poor wound healing	715	C1R	OMIM:130080
HP:0001058	Poor wound healing	9509	ADAMTS2	OMIM:225410
HP:0001058	Poor wound healing	633	BGN	OMIM:300989
HP:0001058	Poor wound healing	1278	COL1A2	ORPHA:230851
HP:0001058	Poor wound healing	1278	COL1A2	OMIM:619120
HP:0001058	Poor wound healing	4921	DDR2	OMIM:618175
HP:0001058	Poor wound healing	3075	CFH	ORPHA:244242
HP:0001058	Poor wound healing	3426	CFI	ORPHA:244242
HP:0001058	Poor wound healing	4179	CD46	ORPHA:244242
HP:0001058	Poor wound healing	101101692	HELLPAR	ORPHA:244242
HP:0001058	Poor wound healing	11280	SCN11A	OMIM:615548
HP:0001058	Poor wound healing	9049	AIP	OMIM:219090
HP:0001058	Poor wound healing	2697	GJA1	ORPHA:1010
HP:0001058	Poor wound healing	9731	CEP104	OMIM:619988
HP:0001058	Poor wound healing	10558	SPTLC1	ORPHA:36386
HP:0001058	Poor wound healing	25923	ATL3	ORPHA:36386
HP:0001058	Poor wound healing	9517	SPTLC2	ORPHA:36386
HP:0001058	Poor wound healing	51062	ATL1	ORPHA:36386
HP:0001059	Pterygium	1144	CHRND	OMIM:253290
HP:0001059	Pterygium	1134	CHRNA1	OMIM:253290
HP:0001059	Pterygium	3655	ITGA6	ORPHA:79403
HP:0001059	Pterygium	4313	MMP2	ORPHA:371428
HP:0001059	Pterygium	4323	MMP14	ORPHA:371428
HP:0001059	Pterygium	4927	NUP88	ORPHA:994
HP:0001059	Pterygium	7846	TUBA1A	ORPHA:994
HP:0001059	Pterygium	4654	MYOD1	ORPHA:994
HP:0001059	Pterygium	4593	MUSK	ORPHA:994
HP:0001059	Pterygium	5913	RAPSN	ORPHA:994
HP:0001059	Pterygium	6572	SLC18A3	ORPHA:994
HP:0001059	Pterygium	285489	DOK7	ORPHA:994
HP:0001059	Pterygium	57538	ALPK3	OMIM:618052
HP:0001059	Pterygium	3339	HSPG2	OMIM:224410
HP:0001059	Pterygium	3339	HSPG2	ORPHA:1865
HP:0001059	Pterygium	55640	FLVCR2	OMIM:225790
HP:0001059	Pterygium	55651	NHP2	OMIM:224230
HP:0001059	Pterygium	55505	NOP10	OMIM:224230
HP:0001059	Pterygium	60681	FKBP10	OMIM:259450
HP:0001059	Pterygium	60681	FKBP10	ORPHA:2771
HP:0001059	Pterygium	1736	DKC1	OMIM:305000
HP:0001059	Pterygium	5352	PLOD2	ORPHA:2771
HP:0001059	Pterygium	5352	PLOD2	OMIM:609220
HP:0001059	Pterygium	2068	ERCC2	ORPHA:910
HP:0001059	Pterygium	7507	XPA	ORPHA:910
HP:0001059	Pterygium	2071	ERCC3	ORPHA:910
HP:0001059	Pterygium	7508	XPC	ORPHA:910
HP:0001059	Pterygium	1643	DDB2	ORPHA:910
HP:0001059	Pterygium	2072	ERCC4	ORPHA:910
HP:0001059	Pterygium	2073	ERCC5	ORPHA:910
HP:0001059	Pterygium	26227	PHGDH	OMIM:256520
HP:0001059	Pterygium	10082	GPC6	OMIM:258315
HP:0001059	Pterygium	1947	EFNB1	OMIM:304110
HP:0001059	Pterygium	5339	PLEC	OMIM:226730
HP:0001059	Pterygium	3691	ITGB4	OMIM:226730
HP:0001059	Pterygium	54101	RIPK4	OMIM:263650
HP:0001059	Pterygium	5307	PITX1	OMIM:119800
HP:0001059	Pterygium	727857	BHLHA9	ORPHA:3329
HP:0001059	Pterygium	3664	IRF6	OMIM:119500
HP:0001059	Pterygium	10265	IRX5	OMIM:611174
HP:0001059	Pterygium	4010	LMX1B	OMIM:161200
HP:0001059	Pterygium	4010	LMX1B	ORPHA:2614
HP:0001059	Pterygium	1146	CHRNG	OMIM:265000
HP:0001059	Pterygium	1146	CHRNG	ORPHA:2990
HP:0001059	Pterygium	4621	MYH3	OMIM:178110
HP:0001059	Pterygium	4621	MYH3	OMIM:618469
HP:0001059	Pterygium	4621	MYH3	ORPHA:2990
HP:0001059	Pterygium	3481	IGF2	OMIM:616489
HP:0001059	Pterygium	9928	KIF14	OMIM:616258
HP:0001059	Pterygium	1147	CHUK	OMIM:619339
HP:0001059	Pterygium	57211	ADGRG6	OMIM:616503
HP:0011271	Prominent tragus	23556	PIGN	ORPHA:280633
HP:0011272	Underdeveloped tragus	2736	GLI2	OMIM:610829
HP:0011272	Underdeveloped tragus	23511	NUP188	OMIM:618804
HP:0011272	Underdeveloped tragus	7994	KAT6A	OMIM:616268
HP:0011272	Underdeveloped tragus	284252	KCTD1	OMIM:181270
HP:0011272	Underdeveloped tragus	284252	KCTD1	ORPHA:2036
HP:0011272	Underdeveloped tragus	10992	SF3B2	OMIM:164210
HP:0011272	Underdeveloped tragus	9343	EFTUD2	ORPHA:79113
HP:0011273	Anisocytosis	9493	KIF23	ORPHA:98870
HP:0011273	Anisocytosis	29127	RACGAP1	ORPHA:98870
HP:0011273	Anisocytosis	374354	NHLRC2	OMIM:618278
HP:0011273	Anisocytosis	3043	HBB	ORPHA:231226
HP:0011273	Anisocytosis	2623	GATA1	ORPHA:67044
HP:0011273	Anisocytosis	2623	GATA1	OMIM:300835
HP:0011273	Anisocytosis	2623	GATA1	ORPHA:79277
HP:0011273	Anisocytosis	51218	GLRX5	OMIM:616860
HP:0011273	Anisocytosis	146059	CDAN1	OMIM:224120
HP:0011273	Anisocytosis	6208	RPS14	ORPHA:86841
HP:0011273	Anisocytosis	164656	TMPRSS6	OMIM:206200
HP:0011273	Anisocytosis	10661	KLF1	OMIM:613673
HP:0011273	Anisocytosis	8573	CASK	OMIM:300908
HP:0011273	Anisocytosis	2539	G6PD	OMIM:300908
HP:0011273	Anisocytosis	7372	UMPS	OMIM:258900
HP:0011273	Anisocytosis	84529	CDIN1	OMIM:615631
HP:0011273	Anisocytosis	51095	TRNT1	OMIM:616959
HP:0011273	Anisocytosis	7390	UROS	ORPHA:79277
HP:0011273	Anisocytosis	6005	RHAG	ORPHA:3203
HP:0011273	Anisocytosis	6005	RHAG	ORPHA:71275
HP:0011273	Anisocytosis	6006	RHCE	ORPHA:71275
HP:0011273	Anisocytosis	6007	RHD	ORPHA:71275
HP:0011273	Anisocytosis	91647	ATPAF2	OMIM:604273
HP:0011273	Anisocytosis	5313	PKLR	ORPHA:766
HP:0011270	Duplicated tragus	10992	SF3B2	OMIM:164210
HP:0011275	Recurrent mycobacterium avium complex infections	3459	IFNGR1	OMIM:615978
HP:0011275	Recurrent mycobacterium avium complex infections	2624	GATA2	OMIM:614172
HP:0011275	Recurrent mycobacterium avium complex infections	6772	STAT1	OMIM:614892
HP:0011276	Vascular skin abnormality	3978	LIG1	OMIM:619774
HP:0011276	Vascular skin abnormality	23328	SASH1	OMIM:618373
HP:0011276	Vascular skin abnormality	4683	NBN	OMIM:251260
HP:0011276	Vascular skin abnormality	5648	MASP1	OMIM:257920
HP:0011276	Vascular skin abnormality	23064	SETX	OMIM:606002
HP:0011276	Vascular skin abnormality	5190	PEX6	ORPHA:95433
HP:0011276	Vascular skin abnormality	5476	CTSA	OMIM:256540
HP:0011276	Vascular skin abnormality	2776	GNAQ	ORPHA:3205
HP:0011276	Vascular skin abnormality	23476	BRD4	ORPHA:199
HP:0011276	Vascular skin abnormality	9126	SMC3	ORPHA:199
HP:0011276	Vascular skin abnormality	9126	SMC3	OMIM:610759
HP:0011276	Vascular skin abnormality	8243	SMC1A	ORPHA:199
HP:0011276	Vascular skin abnormality	8243	SMC1A	OMIM:300590
HP:0011276	Vascular skin abnormality	25836	NIPBL	ORPHA:199
HP:0011276	Vascular skin abnormality	25836	NIPBL	OMIM:122470
HP:0011276	Vascular skin abnormality	55869	HDAC8	ORPHA:199
HP:0011276	Vascular skin abnormality	55869	HDAC8	OMIM:300882
HP:0011276	Vascular skin abnormality	5885	RAD21	ORPHA:199
HP:0011276	Vascular skin abnormality	5885	RAD21	OMIM:614701
HP:0011276	Vascular skin abnormality	54888	NSUN2	ORPHA:235
HP:0011276	Vascular skin abnormality	9791	PTDSS1	OMIM:151050
HP:0011276	Vascular skin abnormality	2982	GUCY1A1	OMIM:615750
HP:0011276	Vascular skin abnormality	2982	GUCY1A1	ORPHA:401945
HP:0011276	Vascular skin abnormality	7737	RNF113A	OMIM:300953
HP:0011276	Vascular skin abnormality	189	AGXT	OMIM:259900
HP:0011276	Vascular skin abnormality	57514	ARHGAP31	OMIM:100300
HP:0011276	Vascular skin abnormality	57514	ARHGAP31	ORPHA:974
HP:0011276	Vascular skin abnormality	8364	H4C3	OMIM:619758
HP:0011276	Vascular skin abnormality	4629	MYH11	ORPHA:229
HP:0011276	Vascular skin abnormality	4629	MYH11	ORPHA:91387
HP:0011276	Vascular skin abnormality	10274	STAG1	ORPHA:502434
HP:0011276	Vascular skin abnormality	4774	NFIA	OMIM:613735
HP:0011276	Vascular skin abnormality	4774	NFIA	ORPHA:401986
HP:0011276	Vascular skin abnormality	10060	ABCC9	OMIM:619719
HP:0011276	Vascular skin abnormality	55027	HEATR3	OMIM:620072
HP:0011276	Vascular skin abnormality	4784	NFIX	OMIM:614753
HP:0011276	Vascular skin abnormality	54345	SOX18	ORPHA:69735
HP:0011276	Vascular skin abnormality	1717	DHCR7	ORPHA:818
HP:0011276	Vascular skin abnormality	3516	RBPJ	ORPHA:974
HP:0011276	Vascular skin abnormality	4851	NOTCH1	ORPHA:974
HP:0011276	Vascular skin abnormality	57572	DOCK6	ORPHA:974
HP:0011276	Vascular skin abnormality	57572	DOCK6	OMIM:614219
HP:0011276	Vascular skin abnormality	285203	EOGT	ORPHA:974
HP:0011276	Vascular skin abnormality	285203	EOGT	OMIM:615297
HP:0011276	Vascular skin abnormality	54567	DLL4	ORPHA:974
HP:0011276	Vascular skin abnormality	54567	DLL4	OMIM:616589
HP:0011276	Vascular skin abnormality	79068	FTO	OMIM:612938
HP:0011276	Vascular skin abnormality	6197	RPS6KA3	OMIM:303600
HP:0011276	Vascular skin abnormality	5422	POLA1	OMIM:301220
HP:0011276	Vascular skin abnormality	57492	ARID1B	OMIM:135900
HP:0011276	Vascular skin abnormality	1663	DDX11	OMIM:613398
HP:0011276	Vascular skin abnormality	10000	AKT3	OMIM:615937
HP:0011276	Vascular skin abnormality	51574	LARP7	ORPHA:319671
HP:0011276	Vascular skin abnormality	25	ABL1	OMIM:617602
HP:0011276	Vascular skin abnormality	10535	RNASEH2A	ORPHA:51
HP:0011276	Vascular skin abnormality	84153	RNASEH2C	ORPHA:51
HP:0011276	Vascular skin abnormality	25939	SAMHD1	ORPHA:51
HP:0011276	Vascular skin abnormality	79621	RNASEH2B	ORPHA:51
HP:0011276	Vascular skin abnormality	103	ADAR	ORPHA:51
HP:0011276	Vascular skin abnormality	100147744	RNU7-1	ORPHA:51
HP:0011276	Vascular skin abnormality	134353	LSM11	ORPHA:51
HP:0011276	Vascular skin abnormality	7046	TGFBR1	ORPHA:91387
HP:0011276	Vascular skin abnormality	7048	TGFBR2	ORPHA:91387
HP:0011276	Vascular skin abnormality	4015	LOX	ORPHA:91387
HP:0011276	Vascular skin abnormality	4087	SMAD2	ORPHA:91387
HP:0011276	Vascular skin abnormality	7043	TGFB3	ORPHA:91387
HP:0011276	Vascular skin abnormality	4088	SMAD3	ORPHA:91387
HP:0011276	Vascular skin abnormality	7042	TGFB2	ORPHA:91387
HP:0011276	Vascular skin abnormality	2200	FBN1	ORPHA:91387
HP:0011276	Vascular skin abnormality	5592	PRKG1	ORPHA:91387
HP:0011276	Vascular skin abnormality	2301	FOXE3	ORPHA:91387
HP:0011276	Vascular skin abnormality	4144	MAT2A	ORPHA:91387
HP:0011276	Vascular skin abnormality	23493	HEY2	ORPHA:91387
HP:0011276	Vascular skin abnormality	8076	MFAP5	ORPHA:91387
HP:0011276	Vascular skin abnormality	4638	MYLK	ORPHA:91387
HP:0011276	Vascular skin abnormality	2006	ELN	ORPHA:91387
HP:0011276	Vascular skin abnormality	3674	ITGA2B	OMIM:187800
HP:0011276	Vascular skin abnormality	3674	ITGA2B	ORPHA:853
HP:0011276	Vascular skin abnormality	2811	GP1BA	OMIM:153670
HP:0011276	Vascular skin abnormality	2811	GP1BA	ORPHA:274
HP:0011276	Vascular skin abnormality	2811	GP1BA	ORPHA:853
HP:0011276	Vascular skin abnormality	2812	GP1BB	ORPHA:274
HP:0011276	Vascular skin abnormality	2812	GP1BB	ORPHA:853
HP:0011276	Vascular skin abnormality	2815	GP9	ORPHA:274
HP:0011276	Vascular skin abnormality	7450	VWF	OMIM:193400
HP:0011276	Vascular skin abnormality	54809	SAMD9	OMIM:617053
HP:0011276	Vascular skin abnormality	83706	FERMT3	OMIM:612840
HP:0011276	Vascular skin abnormality	811	CALR	ORPHA:824
HP:0011276	Vascular skin abnormality	4352	MPL	ORPHA:824
HP:0011276	Vascular skin abnormality	3717	JAK2	ORPHA:824
HP:0011276	Vascular skin abnormality	23474	ETHE1	OMIM:602473
HP:0011276	Vascular skin abnormality	23474	ETHE1	ORPHA:51188
HP:0011276	Vascular skin abnormality	2629	GBA1	OMIM:608013
HP:0011276	Vascular skin abnormality	5551	PRF1	ORPHA:540
HP:0011276	Vascular skin abnormality	8676	STX11	ORPHA:540
HP:0011276	Vascular skin abnormality	201294	UNC13D	ORPHA:540
HP:0011276	Vascular skin abnormality	6813	STXBP2	ORPHA:540
HP:0011276	Vascular skin abnormality	2623	GATA1	OMIM:300367
HP:0011276	Vascular skin abnormality	2623	GATA1	OMIM:314050
HP:0011276	Vascular skin abnormality	2120	ETV6	OMIM:616216
HP:0011276	Vascular skin abnormality	100506658	OCLN	OMIM:251290
HP:0011276	Vascular skin abnormality	3673	ITGA2	ORPHA:853
HP:0011276	Vascular skin abnormality	135228	CD109	ORPHA:853
HP:0011276	Vascular skin abnormality	3690	ITGB3	ORPHA:853
HP:0011276	Vascular skin abnormality	2533	FYB1	OMIM:273900
HP:0011276	Vascular skin abnormality	9630	GNA14	ORPHA:1063
HP:0011276	Vascular skin abnormality	348	APOE	ORPHA:158029
HP:0011276	Vascular skin abnormality	1186	CLCN7	OMIM:611490
HP:0011276	Vascular skin abnormality	3937	LCP2	OMIM:619374
HP:0011276	Vascular skin abnormality	11274	USP18	OMIM:617397
HP:0011276	Vascular skin abnormality	9103	FCGR2C	ORPHA:3002
HP:0011276	Vascular skin abnormality	6774	STAT3	ORPHA:520
HP:0011276	Vascular skin abnormality	5371	PML	ORPHA:520
HP:0011276	Vascular skin abnormality	5914	RARA	ORPHA:520
HP:0011276	Vascular skin abnormality	359948	IRF2BP2	ORPHA:520
HP:0011276	Vascular skin abnormality	81608	FIP1L1	ORPHA:520
HP:0011276	Vascular skin abnormality	5573	PRKAR1A	ORPHA:520
HP:0011276	Vascular skin abnormality	54880	BCOR	ORPHA:520
HP:0011276	Vascular skin abnormality	64859	NABP1	ORPHA:520
HP:0011276	Vascular skin abnormality	6777	STAT5B	ORPHA:520
HP:0011276	Vascular skin abnormality	4926	NUMA1	ORPHA:520
HP:0011276	Vascular skin abnormality	7704	ZBTB16	ORPHA:520
HP:0011276	Vascular skin abnormality	79718	TBL1XR1	ORPHA:520
HP:0011276	Vascular skin abnormality	55340	GIMAP5	OMIM:619463
HP:0011276	Vascular skin abnormality	64858	DCLRE1B	OMIM:620133
HP:0011276	Vascular skin abnormality	3207	HOXA11	OMIM:605432
HP:0011276	Vascular skin abnormality	5873	RAB27A	ORPHA:79477
HP:0011276	Vascular skin abnormality	8328	GFI1B	OMIM:187900
HP:0011276	Vascular skin abnormality	2243	FGA	OMIM:202400
HP:0011276	Vascular skin abnormality	2244	FGB	OMIM:202400
HP:0011276	Vascular skin abnormality	2266	FGG	OMIM:202400
HP:0011276	Vascular skin abnormality	5351	PLOD1	OMIM:225400
HP:0011276	Vascular skin abnormality	5351	PLOD1	ORPHA:1900
HP:0011276	Vascular skin abnormality	7148	TNXB	ORPHA:230839
HP:0011276	Vascular skin abnormality	7148	TNXB	OMIM:606408
HP:0011276	Vascular skin abnormality	2778	GNAS	OMIM:219080
HP:0011276	Vascular skin abnormality	2778	GNAS	ORPHA:189427
HP:0011276	Vascular skin abnormality	10312	TCIRG1	ORPHA:667
HP:0011276	Vascular skin abnormality	29887	SNX10	ORPHA:667
HP:0011276	Vascular skin abnormality	8600	TNFSF11	ORPHA:667
HP:0011276	Vascular skin abnormality	54453	RIN2	ORPHA:217335
HP:0011276	Vascular skin abnormality	54453	RIN2	OMIM:613075
HP:0011276	Vascular skin abnormality	1278	COL1A2	ORPHA:230851
HP:0011276	Vascular skin abnormality	1278	COL1A2	OMIM:617821
HP:0011276	Vascular skin abnormality	1278	COL1A2	OMIM:225320
HP:0011276	Vascular skin abnormality	1278	COL1A2	OMIM:619120
HP:0011276	Vascular skin abnormality	2175	FANCA	OMIM:227650
HP:0011276	Vascular skin abnormality	50940	PDE11A	OMIM:610475
HP:0011276	Vascular skin abnormality	50940	PDE11A	ORPHA:1359
HP:0011276	Vascular skin abnormality	50940	PDE11A	ORPHA:189439
HP:0011276	Vascular skin abnormality	55033	FKBP14	OMIM:614557
HP:0011276	Vascular skin abnormality	55033	FKBP14	ORPHA:300179
HP:0011276	Vascular skin abnormality	10235	RASGRP2	OMIM:615888
HP:0011276	Vascular skin abnormality	1130	LYST	OMIM:214500
HP:0011276	Vascular skin abnormality	1130	LYST	ORPHA:167
HP:0011276	Vascular skin abnormality	1130	LYST	ORPHA:352723
HP:0011276	Vascular skin abnormality	23218	NBEAL2	OMIM:139090
HP:0011276	Vascular skin abnormality	23218	NBEAL2	ORPHA:721
HP:0011276	Vascular skin abnormality	63915	BLOC1S5	OMIM:619172
HP:0011276	Vascular skin abnormality	3039	HBA1	ORPHA:98791
HP:0011276	Vascular skin abnormality	3040	HBA2	ORPHA:98791
HP:0011276	Vascular skin abnormality	90993	CREB3L1	OMIM:616229
HP:0011276	Vascular skin abnormality	2155	F7	ORPHA:327
HP:0011276	Vascular skin abnormality	2155	F7	OMIM:227500
HP:0011276	Vascular skin abnormality	4627	MYH9	OMIM:155100
HP:0011276	Vascular skin abnormality	4627	MYH9	ORPHA:182050
HP:0011276	Vascular skin abnormality	22852	ANKRD26	OMIM:188000
HP:0011276	Vascular skin abnormality	9509	ADAMTS2	OMIM:225410
HP:0011276	Vascular skin abnormality	2178	FANCE	OMIM:600901
HP:0011276	Vascular skin abnormality	5339	PLEC	OMIM:131950
HP:0011276	Vascular skin abnormality	11107	PRDM5	OMIM:614170
HP:0011276	Vascular skin abnormality	11107	PRDM5	ORPHA:90354
HP:0011276	Vascular skin abnormality	633	BGN	OMIM:300989
HP:0011276	Vascular skin abnormality	4507	MTAP	OMIM:112250
HP:0011276	Vascular skin abnormality	8985	PLOD3	OMIM:612394
HP:0011276	Vascular skin abnormality	5328	PLAU	OMIM:601709
HP:0011276	Vascular skin abnormality	342618	SLFN14	OMIM:616913
HP:0011276	Vascular skin abnormality	200734	SPRED2	OMIM:619745
HP:0011276	Vascular skin abnormality	2316	FLNA	ORPHA:75497
HP:0011276	Vascular skin abnormality	5566	PRKACA	OMIM:615830
HP:0011276	Vascular skin abnormality	5566	PRKACA	ORPHA:189439
HP:0011276	Vascular skin abnormality	8622	PDE8B	ORPHA:189439
HP:0011276	Vascular skin abnormality	540	ATP7B	ORPHA:905
HP:0011276	Vascular skin abnormality	3845	KRAS	OMIM:609942
HP:0011276	Vascular skin abnormality	2624	GATA2	ORPHA:3226
HP:0011276	Vascular skin abnormality	5345	SERPINF2	ORPHA:79
HP:0011276	Vascular skin abnormality	5345	SERPINF2	OMIM:262850
HP:0011276	Vascular skin abnormality	89781	HPS4	OMIM:614073
HP:0011276	Vascular skin abnormality	11234	HPS5	OMIM:614074
HP:0011276	Vascular skin abnormality	2934	GSN	ORPHA:85448
HP:0011276	Vascular skin abnormality	84343	HPS3	OMIM:614072
HP:0011276	Vascular skin abnormality	388552	BLOC1S3	OMIM:614077
HP:0011276	Vascular skin abnormality	5594	MAPK1	OMIM:619087
HP:0011276	Vascular skin abnormality	3998	LMAN1	ORPHA:35909
HP:0011276	Vascular skin abnormality	90411	MCFD2	ORPHA:35909
HP:0011276	Vascular skin abnormality	200931	SLC51A	OMIM:619484
HP:0011276	Vascular skin abnormality	84062	DTNBP1	OMIM:614076
HP:0011276	Vascular skin abnormality	79798	ARMC5	ORPHA:189427
HP:0011276	Vascular skin abnormality	84627	ZNF469	ORPHA:90354
HP:0011276	Vascular skin abnormality	23387	SIK3	OMIM:618162
HP:0011276	Vascular skin abnormality	126792	B3GALT6	ORPHA:536467
HP:0011276	Vascular skin abnormality	11117	EMILIN1	OMIM:620080
HP:0011276	Vascular skin abnormality	2177	FANCD2	OMIM:227646
HP:0011276	Vascular skin abnormality	2176	FANCC	OMIM:227645
HP:0011276	Vascular skin abnormality	60681	FKBP10	OMIM:610968
HP:0011276	Vascular skin abnormality	4914	NTRK1	ORPHA:642
HP:0011276	Vascular skin abnormality	6654	SOS1	OMIM:610733
HP:0011276	Vascular skin abnormality	5604	MAP2K1	OMIM:163950
HP:0011276	Vascular skin abnormality	5781	PTPN11	OMIM:163950
HP:0011276	Vascular skin abnormality	950	SCARB2	ORPHA:77259
HP:0011276	Vascular skin abnormality	720	C4A	OMIM:614380
HP:0011276	Vascular skin abnormality	975	CD81	OMIM:613496
HP:0011276	Vascular skin abnormality	975	CD81	ORPHA:1572
HP:0011276	Vascular skin abnormality	10019	SH2B3	OMIM:254450
HP:0011276	Vascular skin abnormality	26191	PTPN22	ORPHA:900
HP:0011276	Vascular skin abnormality	3115	HLA-DPB1	ORPHA:900
HP:0011276	Vascular skin abnormality	5657	PRTN3	ORPHA:900
HP:0011276	Vascular skin abnormality	3113	HLA-DPA1	ORPHA:900
HP:0011276	Vascular skin abnormality	7036	TFR2	OMIM:604250
HP:0011276	Vascular skin abnormality	5624	PROC	ORPHA:745
HP:0011276	Vascular skin abnormality	5624	PROC	OMIM:612304
HP:0011276	Vascular skin abnormality	54	ACP5	OMIM:607944
HP:0011276	Vascular skin abnormality	1312	COMT	ORPHA:567
HP:0011276	Vascular skin abnormality	221037	JMJD1C	ORPHA:567
HP:0011276	Vascular skin abnormality	6239	RREB1	ORPHA:567
HP:0011276	Vascular skin abnormality	6899	TBX1	ORPHA:567
HP:0011276	Vascular skin abnormality	7290	HIRA	ORPHA:567
HP:0011276	Vascular skin abnormality	9632	SEC24C	ORPHA:567
HP:0011276	Vascular skin abnormality	7353	UFD1	ORPHA:567
HP:0011276	Vascular skin abnormality	421	ARVCF	ORPHA:567
HP:0011276	Vascular skin abnormality	84876	ORAI1	ORPHA:3204
HP:0011276	Vascular skin abnormality	6786	STIM1	ORPHA:3204
HP:0011276	Vascular skin abnormality	717	C2	OMIM:217000
HP:0011276	Vascular skin abnormality	23495	TNFRSF13B	ORPHA:1572
HP:0011276	Vascular skin abnormality	4790	NFKB1	ORPHA:1572
HP:0011276	Vascular skin abnormality	4791	NFKB2	ORPHA:1572
HP:0011276	Vascular skin abnormality	115650	TNFRSF13C	ORPHA:1572
HP:0011276	Vascular skin abnormality	1380	CR2	ORPHA:1572
HP:0011276	Vascular skin abnormality	8742	TNFSF12	ORPHA:1572
HP:0011276	Vascular skin abnormality	930	CD19	ORPHA:1572
HP:0011276	Vascular skin abnormality	29851	ICOS	ORPHA:1572
HP:0011276	Vascular skin abnormality	931	MS4A1	ORPHA:1572
HP:0011276	Vascular skin abnormality	3075	CFH	OMIM:235400
HP:0011276	Vascular skin abnormality	3078	CFHR1	OMIM:235400
HP:0011276	Vascular skin abnormality	10878	CFHR3	OMIM:235400
HP:0011276	Vascular skin abnormality	64840	PORCN	OMIM:305600
HP:0011276	Vascular skin abnormality	11277	TREX1	OMIM:192315
HP:0011276	Vascular skin abnormality	11277	TREX1	ORPHA:247691
HP:0011276	Vascular skin abnormality	1643	DDB2	OMIM:278740
HP:0011276	Vascular skin abnormality	1643	DDB2	ORPHA:910
HP:0011276	Vascular skin abnormality	11284	PNKP	ORPHA:459033
HP:0011276	Vascular skin abnormality	5728	PTEN	ORPHA:109
HP:0011276	Vascular skin abnormality	5590	PRKCZ	ORPHA:1606
HP:0011276	Vascular skin abnormality	2563	GABRD	ORPHA:1606
HP:0011276	Vascular skin abnormality	23013	SPEN	ORPHA:1606
HP:0011276	Vascular skin abnormality	8510	MMP23B	ORPHA:1606
HP:0011276	Vascular skin abnormality	7798	LUZP1	ORPHA:1606
HP:0011276	Vascular skin abnormality	6497	SKI	ORPHA:1606
HP:0011276	Vascular skin abnormality	10630	PDPN	ORPHA:1606
HP:0011276	Vascular skin abnormality	3339	HSPG2	ORPHA:1606
HP:0011276	Vascular skin abnormality	10277	UBE4B	ORPHA:1606
HP:0011276	Vascular skin abnormality	8514	KCNAB2	ORPHA:1606
HP:0011276	Vascular skin abnormality	473	RERE	ORPHA:1606
HP:0011276	Vascular skin abnormality	63976	PRDM16	ORPHA:1606
HP:0011276	Vascular skin abnormality	54897	CASZ1	ORPHA:1606
HP:0011276	Vascular skin abnormality	1729	DIAPH1	ORPHA:2573
HP:0011276	Vascular skin abnormality	59	ACTA2	ORPHA:2573
HP:0011276	Vascular skin abnormality	57674	RNF213	ORPHA:2573
HP:0011276	Vascular skin abnormality	7507	XPA	OMIM:278700
HP:0011276	Vascular skin abnormality	7507	XPA	ORPHA:910
HP:0011276	Vascular skin abnormality	79650	USB1	OMIM:604173
HP:0011276	Vascular skin abnormality	83605	CCM2	OMIM:603284
HP:0011276	Vascular skin abnormality	3981	LIG4	OMIM:606593
HP:0011276	Vascular skin abnormality	9401	RECQL4	OMIM:268400
HP:0011276	Vascular skin abnormality	6888	TALDO1	ORPHA:101028
HP:0011276	Vascular skin abnormality	6888	TALDO1	OMIM:606003
HP:0011276	Vascular skin abnormality	2050	EPHB4	OMIM:618196
HP:0011276	Vascular skin abnormality	2050	EPHB4	ORPHA:137667
HP:0011276	Vascular skin abnormality	1294	COL7A1	ORPHA:158673
HP:0011276	Vascular skin abnormality	4010	LMX1B	ORPHA:495818
HP:0011276	Vascular skin abnormality	6812	STXBP1	ORPHA:495818
HP:0011276	Vascular skin abnormality	5921	RASA1	ORPHA:137667
HP:0011276	Vascular skin abnormality	2022	ENG	OMIM:187300
HP:0011276	Vascular skin abnormality	2074	ERCC6	OMIM:600630
HP:0011276	Vascular skin abnormality	2074	ERCC6	OMIM:278800
HP:0011276	Vascular skin abnormality	8813	DPM1	OMIM:608799
HP:0011276	Vascular skin abnormality	84992	PIGY	ORPHA:247262
HP:0011276	Vascular skin abnormality	84720	PIGO	ORPHA:247262
HP:0011276	Vascular skin abnormality	93210	PGAP3	ORPHA:247262
HP:0011276	Vascular skin abnormality	284098	PIGW	ORPHA:247262
HP:0011276	Vascular skin abnormality	27315	PGAP2	ORPHA:247262
HP:0011276	Vascular skin abnormality	55650	PIGV	ORPHA:247262
HP:0011276	Vascular skin abnormality	9487	PIGL	ORPHA:247262
HP:0011276	Vascular skin abnormality	57654	UVSSA	OMIM:614640
HP:0011276	Vascular skin abnormality	545	ATR	OMIM:614564
HP:0011276	Vascular skin abnormality	340061	STING1	OMIM:615934
HP:0011276	Vascular skin abnormality	4361	MRE11	OMIM:604391
HP:0011276	Vascular skin abnormality	7508	XPC	OMIM:278720
HP:0011276	Vascular skin abnormality	7508	XPC	ORPHA:910
HP:0011276	Vascular skin abnormality	641	BLM	ORPHA:125
HP:0011276	Vascular skin abnormality	2068	ERCC2	OMIM:601675
HP:0011276	Vascular skin abnormality	2068	ERCC2	OMIM:278730
HP:0011276	Vascular skin abnormality	2068	ERCC2	ORPHA:910
HP:0011276	Vascular skin abnormality	659	BMPR2	OMIM:178600
HP:0011276	Vascular skin abnormality	2658	GDF2	OMIM:615506
HP:0011276	Vascular skin abnormality	165918	RNF168	ORPHA:420741
HP:0011276	Vascular skin abnormality	4089	SMAD4	OMIM:175050
HP:0011276	Vascular skin abnormality	4668	NAGA	ORPHA:79279
HP:0011276	Vascular skin abnormality	2071	ERCC3	ORPHA:910
HP:0011276	Vascular skin abnormality	2072	ERCC4	ORPHA:910
HP:0011276	Vascular skin abnormality	2073	ERCC5	ORPHA:910
HP:0011276	Vascular skin abnormality	3077	HFE	OMIM:235200
HP:0011276	Vascular skin abnormality	650	BMP2	OMIM:235200
HP:0011276	Vascular skin abnormality	4758	NEU1	ORPHA:93400
HP:0011276	Vascular skin abnormality	64682	ANAPC1	ORPHA:221008
HP:0011276	Vascular skin abnormality	2517	FUCA1	OMIM:230000
HP:0011276	Vascular skin abnormality	2717	GLA	OMIM:301500
HP:0011276	Vascular skin abnormality	2717	GLA	ORPHA:324
HP:0011276	Vascular skin abnormality	4126	MANBA	OMIM:248510
HP:0011276	Vascular skin abnormality	5295	PIK3R1	OMIM:269880
HP:0011276	Vascular skin abnormality	716	C1S	OMIM:617174
HP:0011276	Vascular skin abnormality	165	AEBP1	OMIM:618000
HP:0011276	Vascular skin abnormality	29957	SLC25A24	OMIM:612289
HP:0011276	Vascular skin abnormality	92579	G6PC3	OMIM:612541
HP:0011276	Vascular skin abnormality	8815	BANF1	OMIM:614008
HP:0011276	Vascular skin abnormality	5831	PYCR1	OMIM:612940
HP:0011276	Vascular skin abnormality	5831	PYCR1	OMIM:614438
HP:0011276	Vascular skin abnormality	5468	PPARG	ORPHA:528
HP:0011276	Vascular skin abnormality	5468	PPARG	OMIM:604367
HP:0011276	Vascular skin abnormality	10555	AGPAT2	ORPHA:528
HP:0011276	Vascular skin abnormality	284119	CAVIN1	ORPHA:528
HP:0011276	Vascular skin abnormality	26580	BSCL2	ORPHA:528
HP:0011276	Vascular skin abnormality	2353	FOS	ORPHA:528
HP:0011276	Vascular skin abnormality	25839	COG4	OMIM:618150
HP:0011276	Vascular skin abnormality	715	C1R	OMIM:130080
HP:0011276	Vascular skin abnormality	221496	LEMD2	OMIM:619322
HP:0011276	Vascular skin abnormality	2324	FLT4	OMIM:153100
HP:0011276	Vascular skin abnormality	91252	SLC39A13	OMIM:612350
HP:0011276	Vascular skin abnormality	529	ATP6V1E1	OMIM:617402
HP:0011276	Vascular skin abnormality	84919	PPP1R15B	OMIM:616817
HP:0011276	Vascular skin abnormality	7424	VEGFC	OMIM:615907
HP:0011276	Vascular skin abnormality	171023	ASXL1	ORPHA:98850
HP:0011276	Vascular skin abnormality	171023	ASXL1	ORPHA:98849
HP:0011276	Vascular skin abnormality	54790	TET2	ORPHA:98850
HP:0011276	Vascular skin abnormality	54790	TET2	ORPHA:98849
HP:0011276	Vascular skin abnormality	867	CBL	ORPHA:98850
HP:0011276	Vascular skin abnormality	861	RUNX1	ORPHA:98850
HP:0011276	Vascular skin abnormality	6427	SRSF2	ORPHA:98850
HP:0011276	Vascular skin abnormality	6427	SRSF2	ORPHA:98849
HP:0011276	Vascular skin abnormality	875	CBS	ORPHA:394
HP:0011276	Vascular skin abnormality	355	FAS	ORPHA:3261
HP:0011276	Vascular skin abnormality	355	FAS	OMIM:601859
HP:0011276	Vascular skin abnormality	356	FASLG	ORPHA:3261
HP:0011276	Vascular skin abnormality	356	FASLG	OMIM:601859
HP:0011276	Vascular skin abnormality	5580	PRKCD	ORPHA:3261
HP:0011276	Vascular skin abnormality	843	CASP10	ORPHA:3261
HP:0011276	Vascular skin abnormality	843	CASP10	OMIM:603909
HP:0011276	Vascular skin abnormality	10125	RASGRP1	ORPHA:3261
HP:0011276	Vascular skin abnormality	10262	SF3B4	OMIM:154400
HP:0011276	Vascular skin abnormality	114548	NLRP3	OMIM:617772
HP:0011276	Vascular skin abnormality	114548	NLRP3	ORPHA:575
HP:0011276	Vascular skin abnormality	114548	NLRP3	ORPHA:47045
HP:0011276	Vascular skin abnormality	114548	NLRP3	ORPHA:1451
HP:0011276	Vascular skin abnormality	114548	NLRP3	OMIM:120100
HP:0011276	Vascular skin abnormality	5880	RAC2	OMIM:618987
HP:0011276	Vascular skin abnormality	118429	ANTXR2	ORPHA:2176
HP:0011276	Vascular skin abnormality	7454	WAS	ORPHA:906
HP:0011276	Vascular skin abnormality	7456	WIPF1	ORPHA:906
HP:0011276	Vascular skin abnormality	3119	HLA-DQB1	ORPHA:703
HP:0011276	Vascular skin abnormality	3123	HLA-DRB1	ORPHA:703
HP:0011276	Vascular skin abnormality	4598	MVK	ORPHA:343
HP:0011276	Vascular skin abnormality	7512	XPNPEP2	ORPHA:100057
HP:0011276	Vascular skin abnormality	58484	NLRC4	OMIM:616050
HP:0011276	Vascular skin abnormality	58484	NLRC4	OMIM:616115
HP:0011276	Vascular skin abnormality	11005	SPINK5	OMIM:256500
HP:0011276	Vascular skin abnormality	11005	SPINK5	ORPHA:634
HP:0011276	Vascular skin abnormality	64135	IFIH1	OMIM:615846
HP:0011276	Vascular skin abnormality	224	ALDH3A2	ORPHA:816
HP:0011276	Vascular skin abnormality	91662	NLRP12	OMIM:611762
HP:0011276	Vascular skin abnormality	6785	ELOVL4	ORPHA:1955
HP:0011276	Vascular skin abnormality	1369	CPN1	OMIM:212070
HP:0011276	Vascular skin abnormality	51360	MBTPS2	ORPHA:2273
HP:0011276	Vascular skin abnormality	50943	FOXP3	ORPHA:37042
HP:0011276	Vascular skin abnormality	4615	MYD88	ORPHA:33226
HP:0011276	Vascular skin abnormality	6390	SDHB	OMIM:606764
HP:0011276	Vascular skin abnormality	6391	SDHC	OMIM:606764
HP:0011276	Vascular skin abnormality	2783	GNB2	OMIM:619503
HP:0011276	Vascular skin abnormality	80216	ALPK1	OMIM:614979
HP:0011276	Vascular skin abnormality	399	RHOH	OMIM:618307
HP:0011276	Vascular skin abnormality	3785	KCNQ2	ORPHA:439218
HP:0011276	Vascular skin abnormality	84168	ANTXR1	OMIM:230740
HP:0011276	Vascular skin abnormality	11128	POLR3A	OMIM:264090
HP:0011276	Vascular skin abnormality	11128	POLR3A	ORPHA:3455
HP:0011276	Vascular skin abnormality	175	AGA	OMIM:208400
HP:0011276	Vascular skin abnormality	2720	GLB1	OMIM:230500
HP:0011276	Vascular skin abnormality	2165	F13B	ORPHA:331
HP:0011276	Vascular skin abnormality	2162	F13A1	ORPHA:331
HP:0011276	Vascular skin abnormality	10559	SLC35A1	ORPHA:238459
HP:0011276	Vascular skin abnormality	10559	SLC35A1	OMIM:603585
HP:0011276	Vascular skin abnormality	5054	SERPINE1	ORPHA:465
HP:0011276	Vascular skin abnormality	2048	EPHB2	OMIM:618462
HP:0011276	Vascular skin abnormality	2157	F8	ORPHA:169805
HP:0011276	Vascular skin abnormality	113189	CHST14	ORPHA:2953
HP:0011276	Vascular skin abnormality	29940	DSE	ORPHA:2953
HP:0011276	Vascular skin abnormality	5155	PDGFB	ORPHA:1980
HP:0011276	Vascular skin abnormality	9213	XPR1	ORPHA:1980
HP:0011276	Vascular skin abnormality	5159	PDGFRB	ORPHA:1980
HP:0011276	Vascular skin abnormality	57462	MYORG	ORPHA:1980
HP:0011276	Vascular skin abnormality	6575	SLC20A2	ORPHA:1980
HP:0011276	Vascular skin abnormality	58494	JAM2	ORPHA:1980
HP:0011276	Vascular skin abnormality	5627	PROS1	ORPHA:743
HP:0011276	Vascular skin abnormality	170302	ARX	ORPHA:94083
HP:0011276	Vascular skin abnormality	55315	SLC29A3	OMIM:602782
HP:0011276	Vascular skin abnormality	55315	SLC29A3	ORPHA:168569
HP:0011276	Vascular skin abnormality	1616	DAXX	ORPHA:100075
HP:0011276	Vascular skin abnormality	55275	VPS53	OMIM:615851
HP:0011276	Vascular skin abnormality	10093	ARPC4	OMIM:620141
HP:0011276	Vascular skin abnormality	10269	ZMPSTE24	ORPHA:740
HP:0011276	Vascular skin abnormality	10269	ZMPSTE24	OMIM:275210
HP:0011276	Vascular skin abnormality	5832	ALDH18A1	OMIM:219150
HP:0011276	Vascular skin abnormality	10526	IPO8	OMIM:619472
HP:0011276	Vascular skin abnormality	538	ATP7A	ORPHA:565
HP:0011276	Vascular skin abnormality	5568	PRKACG	OMIM:616176
HP:0011276	Vascular skin abnormality	84342	COG8	ORPHA:95428
HP:0011276	Vascular skin abnormality	2159	F10	ORPHA:328
HP:0011276	Vascular skin abnormality	2153	F5	ORPHA:326
HP:0011276	Vascular skin abnormality	79158	GNPTAB	ORPHA:576
HP:0011276	Vascular skin abnormality	5426	POLE	OMIM:615139
HP:0011276	Vascular skin abnormality	831	CAST	OMIM:616295
HP:0011276	Vascular skin abnormality	23545	ATP6V0A2	ORPHA:2834
HP:0011276	Vascular skin abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0011276	Vascular skin abnormality	523	ATP6V1A	ORPHA:357074
HP:0011276	Vascular skin abnormality	5184	PEPD	OMIM:170100
HP:0011276	Vascular skin abnormality	80169	CTC1	OMIM:612199
HP:0011276	Vascular skin abnormality	94	ACVRL1	ORPHA:774
HP:0011276	Vascular skin abnormality	84277	DNAJC30	OMIM:619382
HP:0011276	Vascular skin abnormality	84277	DNAJC30	ORPHA:104
HP:0011276	Vascular skin abnormality	2483	FRG1	OMIM:158900
HP:0011276	Vascular skin abnormality	29072	SETD2	OMIM:620157
HP:0011276	Vascular skin abnormality	29072	SETD2	OMIM:620155
HP:0011276	Vascular skin abnormality	79991	STN1	OMIM:617341
HP:0011276	Vascular skin abnormality	4535	MT-ND1	ORPHA:104
HP:0011276	Vascular skin abnormality	4536	MT-ND2	ORPHA:104
HP:0011276	Vascular skin abnormality	4538	MT-ND4	ORPHA:104
HP:0011276	Vascular skin abnormality	4720	NDUFS2	ORPHA:104
HP:0011276	Vascular skin abnormality	4512	MT-CO1	ORPHA:104
HP:0011276	Vascular skin abnormality	4514	MT-CO3	ORPHA:104
HP:0011276	Vascular skin abnormality	4519	MT-CYB	ORPHA:104
HP:0011276	Vascular skin abnormality	4508	MT-ATP6	ORPHA:104
HP:0011276	Vascular skin abnormality	4540	MT-ND5	ORPHA:104
HP:0011276	Vascular skin abnormality	4541	MT-ND6	ORPHA:104
HP:0011276	Vascular skin abnormality	4539	MT-ND4L	ORPHA:104
HP:0011276	Vascular skin abnormality	4558	MT-TF	ORPHA:550
HP:0011276	Vascular skin abnormality	4572	MT-TQ	ORPHA:550
HP:0011276	Vascular skin abnormality	4513	MT-CO2	ORPHA:550
HP:0011276	Vascular skin abnormality	4578	MT-TW	ORPHA:550
HP:0011276	Vascular skin abnormality	4567	MT-TL1	ORPHA:550
HP:0011276	Vascular skin abnormality	4574	MT-TS1	ORPHA:550
HP:0011276	Vascular skin abnormality	4575	MT-TS2	ORPHA:550
HP:0011276	Vascular skin abnormality	4564	MT-TH	ORPHA:550
HP:0011276	Vascular skin abnormality	2235	FECH	OMIM:177000
HP:0011276	Vascular skin abnormality	2235	FECH	ORPHA:79278
HP:0011276	Vascular skin abnormality	3858	KRT10	OMIM:607602
HP:0011276	Vascular skin abnormality	3848	KRT1	OMIM:620148
HP:0011276	Vascular skin abnormality	3848	KRT1	ORPHA:530838
HP:0011276	Vascular skin abnormality	362	AQP5	ORPHA:2337
HP:0011276	Vascular skin abnormality	55630	SLC39A4	ORPHA:37
HP:0011276	Vascular skin abnormality	7051	TGM1	ORPHA:281127
HP:0011276	Vascular skin abnormality	162514	TRPV3	ORPHA:659
HP:0011276	Vascular skin abnormality	64065	PERP	ORPHA:659
HP:0011276	Vascular skin abnormality	7132	TNFRSF1A	ORPHA:32960
HP:0011276	Vascular skin abnormality	27032	ATP2C1	ORPHA:2841
HP:0011276	Vascular skin abnormality	27032	ATP2C1	OMIM:169600
HP:0011276	Vascular skin abnormality	6868	ADAM17	ORPHA:294023
HP:0011276	Vascular skin abnormality	1956	EGFR	ORPHA:294023
HP:0011276	Vascular skin abnormality	3849	KRT2	ORPHA:455
HP:0011276	Vascular skin abnormality	3106	HLA-B	ORPHA:36426
HP:0011276	Vascular skin abnormality	10320	IKZF1	ORPHA:36426
HP:0011276	Vascular skin abnormality	6335	SCN9A	ORPHA:90026
HP:0011276	Vascular skin abnormality	11280	SCN11A	ORPHA:90026
HP:0011276	Vascular skin abnormality	6336	SCN10A	ORPHA:90026
HP:0011276	Vascular skin abnormality	50814	NSDHL	OMIM:308050
HP:0011276	Vascular skin abnormality	26525	IL36RN	OMIM:614204
HP:0011276	Vascular skin abnormality	54539	NDUFB11	ORPHA:2556
HP:0011276	Vascular skin abnormality	1349	COX7B	ORPHA:2556
HP:0011276	Vascular skin abnormality	3052	HCCS	ORPHA:2556
HP:0011276	Vascular skin abnormality	56984	PSMG2	OMIM:619183
HP:0011276	Vascular skin abnormality	1508	CTSB	ORPHA:50943
HP:0011276	Vascular skin abnormality	1508	CTSB	OMIM:148370
HP:0011276	Vascular skin abnormality	84818	IL17RC	ORPHA:1334
HP:0011276	Vascular skin abnormality	64581	CLEC7A	ORPHA:1334
HP:0011276	Vascular skin abnormality	23765	IL17RA	ORPHA:1334
HP:0011276	Vascular skin abnormality	10758	TRAF3IP2	ORPHA:1334
HP:0011276	Vascular skin abnormality	112744	IL17F	ORPHA:1334
HP:0011276	Vascular skin abnormality	1832	DSP	OMIM:615821
HP:0011276	Vascular skin abnormality	2752	GLUL	OMIM:610015
HP:0011276	Vascular skin abnormality	2707	GJB3	ORPHA:317
HP:0011276	Vascular skin abnormality	2531	KDSR	ORPHA:317
HP:0011276	Vascular skin abnormality	2531	KDSR	ORPHA:316
HP:0011276	Vascular skin abnormality	2531	KDSR	OMIM:617526
HP:0011276	Vascular skin abnormality	127534	GJB4	ORPHA:317
HP:0011276	Vascular skin abnormality	127534	GJB4	OMIM:617524
HP:0011276	Vascular skin abnormality	9333	TGM5	OMIM:609796
HP:0011276	Vascular skin abnormality	9333	TGM5	ORPHA:263534
HP:0011276	Vascular skin abnormality	1174	AP1S1	OMIM:609313
HP:0011276	Vascular skin abnormality	4210	MEFV	OMIM:608068
HP:0011276	Vascular skin abnormality	4210	MEFV	ORPHA:342
HP:0011276	Vascular skin abnormality	54795	TRPM4	ORPHA:316
HP:0011276	Vascular skin abnormality	4014	LORICRIN	ORPHA:316
HP:0011276	Vascular skin abnormality	3889	KRT83	ORPHA:316
HP:0011276	Vascular skin abnormality	242	ALOX12B	OMIM:242100
HP:0011276	Vascular skin abnormality	59344	ALOXE3	OMIM:242100
HP:0011276	Vascular skin abnormality	59344	ALOXE3	OMIM:606545
HP:0011276	Vascular skin abnormality	6820	SULT2B1	OMIM:617571
HP:0011276	Vascular skin abnormality	4035	LRP1	OMIM:604093
HP:0011276	Vascular skin abnormality	4035	LRP1	ORPHA:79100
HP:0011276	Vascular skin abnormality	3675	ITGA3	OMIM:614748
HP:0011276	Vascular skin abnormality	3248	HPGD	OMIM:259100
HP:0011276	Vascular skin abnormality	57152	SLURP1	ORPHA:87503
HP:0011276	Vascular skin abnormality	643418	LIPN	OMIM:613943
HP:0011276	Vascular skin abnormality	147409	DSG4	OMIM:607903
HP:0011276	Vascular skin abnormality	55739	NAXD	OMIM:618321
HP:0011276	Vascular skin abnormality	64377	CHST8	OMIM:616265
HP:0011276	Vascular skin abnormality	64127	NOD2	ORPHA:90340
HP:0011276	Vascular skin abnormality	1475	CSTA	ORPHA:263534
HP:0011276	Vascular skin abnormality	4921	DDR2	OMIM:618175
HP:0011276	Vascular skin abnormality	667	DST	OMIM:614653
HP:0011276	Vascular skin abnormality	5696	PSMB8	OMIM:256040
HP:0011276	Vascular skin abnormality	3852	KRT5	ORPHA:79396
HP:0011276	Vascular skin abnormality	3861	KRT14	ORPHA:79396
HP:0011276	Vascular skin abnormality	1493	CTLA4	ORPHA:2584
HP:0011276	Vascular skin abnormality	940	CD28	ORPHA:2584
HP:0011276	Vascular skin abnormality	7133	TNFRSF1B	ORPHA:2584
HP:0011276	Vascular skin abnormality	1027	CDKN1B	ORPHA:276152
HP:0011276	Vascular skin abnormality	11235	PDCD10	ORPHA:221061
HP:0011276	Vascular skin abnormality	889	KRIT1	ORPHA:221061
HP:0011276	Vascular skin abnormality	4953	ODC1	ORPHA:544488
HP:0011276	Vascular skin abnormality	11198	SUPT16H	OMIM:619480
HP:0011276	Vascular skin abnormality	10999	SLC27A4	OMIM:608649
HP:0011276	Vascular skin abnormality	5336	PLCG2	OMIM:614468
HP:0011276	Vascular skin abnormality	3594	IL12RB1	ORPHA:186
HP:0011276	Vascular skin abnormality	23534	TNPO3	ORPHA:186
HP:0011276	Vascular skin abnormality	3592	IL12A	ORPHA:186
HP:0011276	Vascular skin abnormality	6689	SPIB	ORPHA:186
HP:0011276	Vascular skin abnormality	5450	POU2AF1	ORPHA:186
HP:0011276	Vascular skin abnormality	9966	TNFSF15	ORPHA:186
HP:0011276	Vascular skin abnormality	79258	MMEL1	ORPHA:186
HP:0011276	Vascular skin abnormality	3663	IRF5	ORPHA:186
HP:0011276	Vascular skin abnormality	710	SERPING1	ORPHA:100050
HP:0011276	Vascular skin abnormality	3815	KIT	ORPHA:79455
HP:0011276	Vascular skin abnormality	30817	ADGRE2	OMIM:125630
HP:0011276	Vascular skin abnormality	2859	GPR35	ORPHA:171
HP:0011276	Vascular skin abnormality	10507	SEMA4D	ORPHA:171
HP:0011276	Vascular skin abnormality	4485	MST1	ORPHA:171
HP:0011276	Vascular skin abnormality	6925	TCF4	ORPHA:171
HP:0011276	Vascular skin abnormality	2542	SLC37A4	OMIM:232240
HP:0011276	Vascular skin abnormality	2702	GJA5	OMIM:612474
HP:0011276	Vascular skin abnormality	2703	GJA8	OMIM:612474
HP:0011276	Vascular skin abnormality	7286	TUFT1	OMIM:607655
HP:0011276	Vascular skin abnormality	80326	WNT10A	OMIM:257980
HP:0011276	Vascular skin abnormality	2697	GJA1	OMIM:104100
HP:0011276	Vascular skin abnormality	4693	NDP	ORPHA:891
HP:0011276	Vascular skin abnormality	1499	CTNNB1	ORPHA:891
HP:0011276	Vascular skin abnormality	23554	TSPAN12	ORPHA:891
HP:0011276	Vascular skin abnormality	4041	LRP5	ORPHA:891
HP:0011276	Vascular skin abnormality	79797	ZNF408	ORPHA:891
HP:0011276	Vascular skin abnormality	8322	FZD4	ORPHA:891
HP:0011276	Vascular skin abnormality	2642	GCGR	ORPHA:438274
HP:0011276	Vascular skin abnormality	84196	USP48	ORPHA:96253
HP:0011276	Vascular skin abnormality	7157	TP53	ORPHA:96253
HP:0011276	Vascular skin abnormality	9101	USP8	ORPHA:96253
HP:0011276	Vascular skin abnormality	9101	USP8	OMIM:219090
HP:0011276	Vascular skin abnormality	64072	CDH23	ORPHA:96253
HP:0011276	Vascular skin abnormality	2908	NR3C1	ORPHA:96253
HP:0011276	Vascular skin abnormality	673	BRAF	ORPHA:96253
HP:0011276	Vascular skin abnormality	546	ATRX	ORPHA:96253
HP:0011276	Vascular skin abnormality	3458	IFNG	ORPHA:88
HP:0011276	Vascular skin abnormality	51119	SBDS	ORPHA:88
HP:0011276	Vascular skin abnormality	2677	GGCX	OMIM:277450
HP:0011276	Vascular skin abnormality	51206	GP6	OMIM:614201
HP:0011276	Vascular skin abnormality	6915	TBXA2R	OMIM:614009
HP:0011276	Vascular skin abnormality	3257	HPS1	OMIM:203300
HP:0011276	Vascular skin abnormality	2147	F2	OMIM:613679
HP:0011276	Vascular skin abnormality	64805	P2RY12	OMIM:609821
HP:0011276	Vascular skin abnormality	1277	COL1A1	ORPHA:287
HP:0011276	Vascular skin abnormality	1289	COL5A1	ORPHA:287
HP:0011276	Vascular skin abnormality	1290	COL5A2	ORPHA:287
HP:0011276	Vascular skin abnormality	79803	HPS6	OMIM:614075
HP:0011276	Vascular skin abnormality	9049	AIP	OMIM:219090
HP:0011276	Vascular skin abnormality	6720	SREBF1	OMIM:619016
HP:0011276	Vascular skin abnormality	51816	ADA2	OMIM:615688
HP:0011276	Vascular skin abnormality	51816	ADA2	OMIM:182410
HP:0011276	Vascular skin abnormality	23590	PDSS1	OMIM:614651
HP:0011276	Vascular skin abnormality	5429	POLH	OMIM:278750
HP:0011276	Vascular skin abnormality	5111	PCNA	OMIM:615919
HP:0011276	Vascular skin abnormality	10483	SEC23B	ORPHA:201
HP:0011276	Vascular skin abnormality	6392	SDHD	ORPHA:201
HP:0011276	Vascular skin abnormality	207	AKT1	ORPHA:201
HP:0011276	Vascular skin abnormality	205717	USF3	ORPHA:201
HP:0011276	Vascular skin abnormality	100144748	KLLN	ORPHA:201
HP:0011276	Vascular skin abnormality	5290	PIK3CA	ORPHA:276280
HP:0011276	Vascular skin abnormality	5290	PIK3CA	ORPHA:60040
HP:0011276	Vascular skin abnormality	55699	IARS2	OMIM:616007
HP:0011276	Vascular skin abnormality	7518	XRCC4	ORPHA:99812
HP:0011276	Vascular skin abnormality	81031	SLC2A10	ORPHA:3342
HP:0011276	Vascular skin abnormality	1540	CYLD	ORPHA:867
HP:0011276	Vascular skin abnormality	1540	CYLD	ORPHA:211
HP:0011276	Vascular skin abnormality	7486	WRN	ORPHA:902
HP:0011276	Vascular skin abnormality	1235	CCR6	ORPHA:220402
HP:0011276	Vascular skin abnormality	1235	CCR6	ORPHA:220393
HP:0011276	Vascular skin abnormality	79932	KIAA0319L	ORPHA:220402
HP:0011276	Vascular skin abnormality	1490	CCN2	ORPHA:220402
HP:0011276	Vascular skin abnormality	1490	CCN2	ORPHA:220393
HP:0011276	Vascular skin abnormality	857	CAV1	ORPHA:220402
HP:0011276	Vascular skin abnormality	857	CAV1	ORPHA:220393
HP:0011276	Vascular skin abnormality	11322	TMC6	ORPHA:302
HP:0011276	Vascular skin abnormality	3574	IL7	ORPHA:302
HP:0011276	Vascular skin abnormality	147138	TMC8	ORPHA:302
HP:0011276	Vascular skin abnormality	10519	CIB1	ORPHA:302
HP:0011276	Vascular skin abnormality	8517	IKBKG	ORPHA:464
HP:0011276	Vascular skin abnormality	472	ATM	ORPHA:100
HP:0011276	Vascular skin abnormality	63916	ELMO2	ORPHA:3019
HP:0011276	Vascular skin abnormality	55612	FERMT1	OMIM:173650
HP:0011276	Vascular skin abnormality	3930	LBR	ORPHA:779
HP:0011276	Vascular skin abnormality	2767	GNA11	ORPHA:1556
HP:0011276	Vascular skin abnormality	151188	ARL6IP6	ORPHA:1556
HP:0011276	Vascular skin abnormality	4000	LMNA	OMIM:212112
HP:0011276	Vascular skin abnormality	4000	LMNA	ORPHA:79474
HP:0011276	Vascular skin abnormality	1281	COL3A1	ORPHA:286
HP:0011276	Vascular skin abnormality	1281	COL3A1	ORPHA:2500
HP:0011276	Vascular skin abnormality	5424	POLD1	OMIM:615381
HP:0011276	Vascular skin abnormality	26277	TINF2	ORPHA:1775
HP:0011276	Vascular skin abnormality	55651	NHP2	ORPHA:1775
HP:0011276	Vascular skin abnormality	55135	WRAP53	ORPHA:1775
HP:0011276	Vascular skin abnormality	51750	RTEL1	ORPHA:1775
HP:0011276	Vascular skin abnormality	4869	NPM1	ORPHA:1775
HP:0011276	Vascular skin abnormality	7012	TERC	ORPHA:1775
HP:0011276	Vascular skin abnormality	55505	NOP10	ORPHA:1775
HP:0011276	Vascular skin abnormality	5073	PARN	ORPHA:1775
HP:0011276	Vascular skin abnormality	7015	TERT	ORPHA:1775
HP:0011276	Vascular skin abnormality	1736	DKC1	ORPHA:1775
HP:0011276	Vascular skin abnormality	7298	TYMS	ORPHA:1775
HP:0011276	Vascular skin abnormality	5167	ENPP1	ORPHA:758
HP:0011276	Vascular skin abnormality	368	ABCC6	ORPHA:758
HP:0011276	Vascular skin abnormality	4763	NF1	ORPHA:97685
HP:0011276	Vascular skin abnormality	5340	PLG	OMIM:619360
HP:0011276	Vascular skin abnormality	284	ANGPT1	OMIM:619361
HP:0011276	Vascular skin abnormality	26509	MYOF	OMIM:619366
HP:0011276	Vascular skin abnormality	64711	HS3ST6	OMIM:619367
HP:0011276	Vascular skin abnormality	3827	KNG1	OMIM:619363
HP:0011276	Vascular skin abnormality	1776	DNASE1L3	ORPHA:36412
HP:0011276	Vascular skin abnormality	2161	F12	OMIM:610618
HP:0011276	Vascular skin abnormality	6850	SYK	OMIM:619381
HP:0011276	Vascular skin abnormality	5238	PGM3	ORPHA:443811
HP:0011276	Vascular skin abnormality	5238	PGM3	OMIM:615816
HP:0011276	Vascular skin abnormality	10095	ARPC1B	OMIM:617718
HP:0011276	Vascular skin abnormality	146206	CARMIL2	OMIM:618131
HP:0011277	Abnormality of the urinary system physiology	23394	ADNP	ORPHA:404448
HP:0011277	Abnormality of the urinary system physiology	23394	ADNP	OMIM:615873
HP:0011277	Abnormality of the urinary system physiology	695	BTK	OMIM:300755
HP:0011277	Abnormality of the urinary system physiology	695	BTK	OMIM:307200
HP:0011277	Abnormality of the urinary system physiology	1859	DYRK1A	ORPHA:268261
HP:0011277	Abnormality of the urinary system physiology	4683	NBN	OMIM:251260
HP:0011277	Abnormality of the urinary system physiology	113235	SLC46A1	ORPHA:90045
HP:0011277	Abnormality of the urinary system physiology	3909	LAMA3	ORPHA:79404
HP:0011277	Abnormality of the urinary system physiology	3918	LAMC2	ORPHA:79404
HP:0011277	Abnormality of the urinary system physiology	3914	LAMB3	ORPHA:79404
HP:0011277	Abnormality of the urinary system physiology	4125	MAN2B1	ORPHA:309282
HP:0011277	Abnormality of the urinary system physiology	1387	CREBBP	ORPHA:353281
HP:0011277	Abnormality of the urinary system physiology	1387	CREBBP	ORPHA:353277
HP:0011277	Abnormality of the urinary system physiology	9578	CDC42BPB	OMIM:619841
HP:0011277	Abnormality of the urinary system physiology	613	BCR	ORPHA:261330
HP:0011277	Abnormality of the urinary system physiology	1399	CRKL	ORPHA:261330
HP:0011277	Abnormality of the urinary system physiology	5594	MAPK1	ORPHA:261330
HP:0011277	Abnormality of the urinary system physiology	3313	HSPA9	OMIM:616854
HP:0011277	Abnormality of the urinary system physiology	2033	EP300	ORPHA:353284
HP:0011277	Abnormality of the urinary system physiology	284058	KANSL1	ORPHA:363958
HP:0011277	Abnormality of the urinary system physiology	284058	KANSL1	ORPHA:363965
HP:0011277	Abnormality of the urinary system physiology	284058	KANSL1	OMIM:610443
HP:0011277	Abnormality of the urinary system physiology	54496	PRMT7	OMIM:617157
HP:0011277	Abnormality of the urinary system physiology	92579	G6PC3	OMIM:612541
HP:0011277	Abnormality of the urinary system physiology	2019	EN1	OMIM:619218
HP:0011277	Abnormality of the urinary system physiology	546	ATRX	ORPHA:847
HP:0011277	Abnormality of the urinary system physiology	8626	TP63	ORPHA:93930
HP:0011277	Abnormality of the urinary system physiology	3670	ISL1	ORPHA:93930
HP:0011277	Abnormality of the urinary system physiology	4478	MSN	OMIM:300988
HP:0011277	Abnormality of the urinary system physiology	10524	KAT5	OMIM:619103
HP:0011277	Abnormality of the urinary system physiology	3560	IL2RB	OMIM:618495
HP:0011277	Abnormality of the urinary system physiology	84818	IL17RC	ORPHA:1334
HP:0011277	Abnormality of the urinary system physiology	64581	CLEC7A	ORPHA:1334
HP:0011277	Abnormality of the urinary system physiology	23765	IL17RA	ORPHA:1334
HP:0011277	Abnormality of the urinary system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0011277	Abnormality of the urinary system physiology	112744	IL17F	ORPHA:1334
HP:0011277	Abnormality of the urinary system physiology	1380	CR2	OMIM:614699
HP:0011277	Abnormality of the urinary system physiology	6304	SATB1	OMIM:619229
HP:0011277	Abnormality of the urinary system physiology	8883	NAE1	OMIM:620210
HP:0011277	Abnormality of the urinary system physiology	28982	FLVCR1	OMIM:609033
HP:0011277	Abnormality of the urinary system physiology	538	ATP7A	ORPHA:198
HP:0011277	Abnormality of the urinary system physiology	84265	POLR3GL	OMIM:619234
HP:0011277	Abnormality of the urinary system physiology	54809	SAMD9	OMIM:617053
HP:0011277	Abnormality of the urinary system physiology	4261	CIITA	OMIM:209920
HP:0011277	Abnormality of the urinary system physiology	5994	RFXAP	OMIM:209920
HP:0011277	Abnormality of the urinary system physiology	5993	RFX5	OMIM:209920
HP:0011277	Abnormality of the urinary system physiology	8625	RFXANK	OMIM:209920
HP:0011277	Abnormality of the urinary system physiology	10056	FARSB	OMIM:613658
HP:0011277	Abnormality of the urinary system physiology	493856	CISD2	ORPHA:3463
HP:0011277	Abnormality of the urinary system physiology	7466	WFS1	ORPHA:3463
HP:0011277	Abnormality of the urinary system physiology	5293	PIK3CD	ORPHA:221139
HP:0011277	Abnormality of the urinary system physiology	90417	KNSTRN	ORPHA:221139
HP:0011277	Abnormality of the urinary system physiology	8936	WASF1	OMIM:618707
HP:0011277	Abnormality of the urinary system physiology	2131	EXT1	ORPHA:502
HP:0011277	Abnormality of the urinary system physiology	7227	TRPS1	ORPHA:502
HP:0011277	Abnormality of the urinary system physiology	79228	THOC6	ORPHA:363444
HP:0011277	Abnormality of the urinary system physiology	79228	THOC6	OMIM:613680
HP:0011277	Abnormality of the urinary system physiology	5971	RELB	OMIM:617585
HP:0011277	Abnormality of the urinary system physiology	10398	MYL9	OMIM:619365
HP:0011277	Abnormality of the urinary system physiology	10293	TRAIP	OMIM:616777
HP:0011277	Abnormality of the urinary system physiology	7148	TNXB	OMIM:615963
HP:0011277	Abnormality of the urinary system physiology	9562	MINPP1	OMIM:619527
HP:0011277	Abnormality of the urinary system physiology	5294	PIK3CG	OMIM:619802
HP:0011277	Abnormality of the urinary system physiology	11128	POLR3A	ORPHA:3455
HP:0011277	Abnormality of the urinary system physiology	55343	SLC35C1	ORPHA:99843
HP:0011277	Abnormality of the urinary system physiology	403	ARL3	OMIM:618161
HP:0011277	Abnormality of the urinary system physiology	7994	KAT6A	OMIM:616268
HP:0011277	Abnormality of the urinary system physiology	64321	SOX17	OMIM:613674
HP:0011277	Abnormality of the urinary system physiology	4052	LTBP1	ORPHA:90349
HP:0011277	Abnormality of the urinary system physiology	30008	EFEMP2	ORPHA:90349
HP:0011277	Abnormality of the urinary system physiology	10516	FBLN5	ORPHA:90349
HP:0011277	Abnormality of the urinary system physiology	3110	MNX1	OMIM:176450
HP:0011277	Abnormality of the urinary system physiology	3514	IGKC	ORPHA:183675
HP:0011277	Abnormality of the urinary system physiology	3501	IGHG2	ORPHA:183675
HP:0011277	Abnormality of the urinary system physiology	641	BLM	ORPHA:125
HP:0011277	Abnormality of the urinary system physiology	4001	LMNB1	ORPHA:99027
HP:0011277	Abnormality of the urinary system physiology	26191	PTPN22	ORPHA:397
HP:0011277	Abnormality of the urinary system physiology	26191	PTPN22	ORPHA:900
HP:0011277	Abnormality of the urinary system physiology	3106	HLA-B	ORPHA:397
HP:0011277	Abnormality of the urinary system physiology	3106	HLA-B	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	3106	HLA-B	ORPHA:36426
HP:0011277	Abnormality of the urinary system physiology	3123	HLA-DRB1	ORPHA:397
HP:0011277	Abnormality of the urinary system physiology	3123	HLA-DRB1	ORPHA:797
HP:0011277	Abnormality of the urinary system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0011277	Abnormality of the urinary system physiology	8974	P4HA2	ORPHA:397
HP:0011277	Abnormality of the urinary system physiology	51726	DNAJB11	OMIM:618061
HP:0011277	Abnormality of the urinary system physiology	51726	DNAJB11	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	4594	MMUT	ORPHA:289916
HP:0011277	Abnormality of the urinary system physiology	4594	MMUT	ORPHA:79312
HP:0011277	Abnormality of the urinary system physiology	355	FAS	ORPHA:3261
HP:0011277	Abnormality of the urinary system physiology	355	FAS	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	356	FASLG	ORPHA:3261
HP:0011277	Abnormality of the urinary system physiology	5580	PRKCD	ORPHA:3261
HP:0011277	Abnormality of the urinary system physiology	843	CASP10	ORPHA:3261
HP:0011277	Abnormality of the urinary system physiology	10125	RASGRP1	ORPHA:3261
HP:0011277	Abnormality of the urinary system physiology	9860	LRIG2	OMIM:615112
HP:0011277	Abnormality of the urinary system physiology	9860	LRIG2	ORPHA:2704
HP:0011277	Abnormality of the urinary system physiology	8518	ELP1	ORPHA:1764
HP:0011277	Abnormality of the urinary system physiology	4010	LMX1B	ORPHA:2613
HP:0011277	Abnormality of the urinary system physiology	4010	LMX1B	ORPHA:2614
HP:0011277	Abnormality of the urinary system physiology	4010	LMX1B	OMIM:161200
HP:0011277	Abnormality of the urinary system physiology	4010	LMX1B	OMIM:256020
HP:0011277	Abnormality of the urinary system physiology	1161	ERCC8	ORPHA:90324
HP:0011277	Abnormality of the urinary system physiology	1161	ERCC8	ORPHA:90321
HP:0011277	Abnormality of the urinary system physiology	1161	ERCC8	OMIM:216400
HP:0011277	Abnormality of the urinary system physiology	2074	ERCC6	ORPHA:90324
HP:0011277	Abnormality of the urinary system physiology	2074	ERCC6	ORPHA:90321
HP:0011277	Abnormality of the urinary system physiology	2074	ERCC6	OMIM:133540
HP:0011277	Abnormality of the urinary system physiology	5631	PRPS1	ORPHA:411543
HP:0011277	Abnormality of the urinary system physiology	5631	PRPS1	ORPHA:411536
HP:0011277	Abnormality of the urinary system physiology	5631	PRPS1	OMIM:300661
HP:0011277	Abnormality of the urinary system physiology	57539	WDR35	OMIM:613610
HP:0011277	Abnormality of the urinary system physiology	3209	HOXA13	OMIM:140000
HP:0011277	Abnormality of the urinary system physiology	84942	WDR73	OMIM:251300
HP:0011277	Abnormality of the urinary system physiology	84942	WDR73	ORPHA:83472
HP:0011277	Abnormality of the urinary system physiology	1131	CHRM3	ORPHA:2970
HP:0011277	Abnormality of the urinary system physiology	81839	VANGL1	ORPHA:3027
HP:0011277	Abnormality of the urinary system physiology	80199	FUZ	ORPHA:3027
HP:0011277	Abnormality of the urinary system physiology	91147	TMEM67	OMIM:602152
HP:0011277	Abnormality of the urinary system physiology	91147	TMEM67	OMIM:615991
HP:0011277	Abnormality of the urinary system physiology	91147	TMEM67	ORPHA:1454
HP:0011277	Abnormality of the urinary system physiology	4867	NPHP1	OMIM:609583
HP:0011277	Abnormality of the urinary system physiology	4867	NPHP1	OMIM:266900
HP:0011277	Abnormality of the urinary system physiology	4867	NPHP1	ORPHA:220497
HP:0011277	Abnormality of the urinary system physiology	64324	NSD1	ORPHA:821
HP:0011277	Abnormality of the urinary system physiology	29072	SETD2	ORPHA:821
HP:0011277	Abnormality of the urinary system physiology	10297	APC2	ORPHA:821
HP:0011277	Abnormality of the urinary system physiology	79848	CSPP1	ORPHA:397715
HP:0011277	Abnormality of the urinary system physiology	9786	KIAA0586	ORPHA:397715
HP:0011277	Abnormality of the urinary system physiology	11136	SLC7A9	OMIM:220100
HP:0011277	Abnormality of the urinary system physiology	6519	SLC3A1	OMIM:220100
HP:0011277	Abnormality of the urinary system physiology	23607	CD2AP	OMIM:607832
HP:0011277	Abnormality of the urinary system physiology	4312	MMP1	ORPHA:79408
HP:0011277	Abnormality of the urinary system physiology	1294	COL7A1	ORPHA:79408
HP:0011277	Abnormality of the urinary system physiology	79577	CDC73	ORPHA:143
HP:0011277	Abnormality of the urinary system physiology	79577	CDC73	ORPHA:99880
HP:0011277	Abnormality of the urinary system physiology	79577	CDC73	ORPHA:99879
HP:0011277	Abnormality of the urinary system physiology	4311	MME	ORPHA:69063
HP:0011277	Abnormality of the urinary system physiology	9380	GRHPR	OMIM:260000
HP:0011277	Abnormality of the urinary system physiology	9380	GRHPR	ORPHA:93599
HP:0011277	Abnormality of the urinary system physiology	23322	RPGRIP1L	ORPHA:220497
HP:0011277	Abnormality of the urinary system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0011277	Abnormality of the urinary system physiology	23322	RPGRIP1L	OMIM:619113
HP:0011277	Abnormality of the urinary system physiology	65062	TMEM237	ORPHA:220497
HP:0011277	Abnormality of the urinary system physiology	65062	TMEM237	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	79947	DHDDS	OMIM:613861
HP:0011277	Abnormality of the urinary system physiology	9640	ZNF592	ORPHA:83472
HP:0011277	Abnormality of the urinary system physiology	6523	SLC5A1	ORPHA:35710
HP:0011277	Abnormality of the urinary system physiology	9382	COG1	OMIM:611209
HP:0011277	Abnormality of the urinary system physiology	4868	NPHS1	OMIM:256300
HP:0011277	Abnormality of the urinary system physiology	55034	MOCOS	OMIM:603592
HP:0011277	Abnormality of the urinary system physiology	23193	GANAB	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	5310	PKD1	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	5310	PKD1	OMIM:173900
HP:0011277	Abnormality of the urinary system physiology	5311	PKD2	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	5311	PKD2	OMIM:613095
HP:0011277	Abnormality of the urinary system physiology	29880	ALG5	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	29880	ALG5	OMIM:620056
HP:0011277	Abnormality of the urinary system physiology	9742	IFT140	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	9742	IFT140	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	79796	ALG9	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	80114	BICC1	ORPHA:730
HP:0011277	Abnormality of the urinary system physiology	80114	BICC1	OMIM:601331
HP:0011277	Abnormality of the urinary system physiology	9071	CLDN10	OMIM:617671
HP:0011277	Abnormality of the urinary system physiology	81693	AMN	OMIM:618882
HP:0011277	Abnormality of the urinary system physiology	3043	HBB	OMIM:603903
HP:0011277	Abnormality of the urinary system physiology	8029	CUBN	OMIM:618884
HP:0011277	Abnormality of the urinary system physiology	2859	GPR35	ORPHA:171
HP:0011277	Abnormality of the urinary system physiology	10507	SEMA4D	ORPHA:171
HP:0011277	Abnormality of the urinary system physiology	4485	MST1	ORPHA:171
HP:0011277	Abnormality of the urinary system physiology	6925	TCF4	ORPHA:171
HP:0011277	Abnormality of the urinary system physiology	54757	FAM20A	OMIM:204690
HP:0011277	Abnormality of the urinary system physiology	54757	FAM20A	ORPHA:1031
HP:0011277	Abnormality of the urinary system physiology	353	APRT	OMIM:614723
HP:0011277	Abnormality of the urinary system physiology	353	APRT	ORPHA:976
HP:0011277	Abnormality of the urinary system physiology	412	STS	ORPHA:281090
HP:0011277	Abnormality of the urinary system physiology	7840	ALMS1	OMIM:203800
HP:0011277	Abnormality of the urinary system physiology	672	BRCA1	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	10459	MAD2L2	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	7516	XRCC2	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	29089	UBE2T	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	675	BRCA2	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	55120	FANCL	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2177	FANCD2	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2175	FANCA	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2187	FANCB	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2176	FANCC	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2178	FANCE	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2188	FANCF	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	2189	FANCG	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	5888	RAD51	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	5889	RAD51C	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	55159	RFWD3	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	83990	BRIP1	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	57697	FANCM	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	79728	PALB2	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	84464	SLX4	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	55215	FANCI	ORPHA:84
HP:0011277	Abnormality of the urinary system physiology	6899	TBX1	OMIM:188400
HP:0011277	Abnormality of the urinary system physiology	1175	AP2S1	OMIM:600740
HP:0011277	Abnormality of the urinary system physiology	203286	ANKS6	OMIM:615382
HP:0011277	Abnormality of the urinary system physiology	5224	PGAM2	OMIM:261670
HP:0011277	Abnormality of the urinary system physiology	60495	HPSE2	ORPHA:2704
HP:0011277	Abnormality of the urinary system physiology	950	SCARB2	OMIM:254900
HP:0011277	Abnormality of the urinary system physiology	9096	TBX18	OMIM:143400
HP:0011277	Abnormality of the urinary system physiology	5230	PGK1	ORPHA:713
HP:0011277	Abnormality of the urinary system physiology	5230	PGK1	OMIM:300653
HP:0011277	Abnormality of the urinary system physiology	3265	HRAS	OMIM:218040
HP:0011277	Abnormality of the urinary system physiology	7490	WT1	OMIM:194072
HP:0011277	Abnormality of the urinary system physiology	7490	WT1	ORPHA:347
HP:0011277	Abnormality of the urinary system physiology	7490	WT1	OMIM:256370
HP:0011277	Abnormality of the urinary system physiology	5080	PAX6	OMIM:194072
HP:0011277	Abnormality of the urinary system physiology	54345	SOX18	OMIM:137940
HP:0011277	Abnormality of the urinary system physiology	55112	DYNC2I1	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	26160	IFT172	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	153241	CEP120	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	57560	IFT80	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	51626	DYNC2LI1	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	79659	DYNC2H1	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	57728	WDR19	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	89891	DYNC2I2	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	79809	TTC21B	ORPHA:474
HP:0011277	Abnormality of the urinary system physiology	1187	CLCNKA	OMIM:613090
HP:0011277	Abnormality of the urinary system physiology	1188	CLCNKB	OMIM:613090
HP:0011277	Abnormality of the urinary system physiology	5314	PKHD1	OMIM:263200
HP:0011277	Abnormality of the urinary system physiology	5314	PKHD1	ORPHA:731
HP:0011277	Abnormality of the urinary system physiology	114548	NLRP3	OMIM:191900
HP:0011277	Abnormality of the urinary system physiology	10908	PNPLA6	ORPHA:2377
HP:0011277	Abnormality of the urinary system physiology	1282	COL4A1	ORPHA:73229
HP:0011277	Abnormality of the urinary system physiology	1282	COL4A1	OMIM:611773
HP:0011277	Abnormality of the urinary system physiology	6804	STX1A	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	7461	CLIP2	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	84277	DNAJC30	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	8468	FKBP6	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	5982	RFC2	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	2969	GTF2I	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	3984	LIMK1	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	9569	GTF2IRD1	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	155382	VPS37D	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	155368	METTL27	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	114049	BUD23	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	7458	EIF4H	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	84163	GTF2IRD2	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	9275	BCL7B	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	26608	TBL2	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	653361	NCF1	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	135886	TMEM270	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	51085	MLXIPL	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	51085	MLXIPL	OMIM:194050
HP:0011277	Abnormality of the urinary system physiology	9031	BAZ1B	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	2006	ELN	ORPHA:904
HP:0011277	Abnormality of the urinary system physiology	2006	ELN	OMIM:194050
HP:0011277	Abnormality of the urinary system physiology	718	C3	OMIM:613779
HP:0011277	Abnormality of the urinary system physiology	1493	CTLA4	ORPHA:900
HP:0011277	Abnormality of the urinary system physiology	3115	HLA-DPB1	ORPHA:900
HP:0011277	Abnormality of the urinary system physiology	5657	PRTN3	ORPHA:900
HP:0011277	Abnormality of the urinary system physiology	3113	HLA-DPA1	ORPHA:900
HP:0011277	Abnormality of the urinary system physiology	8659	ALDH4A1	ORPHA:79101
HP:0011277	Abnormality of the urinary system physiology	3675	ITGA3	OMIM:614748
HP:0011277	Abnormality of the urinary system physiology	4567	MT-TL1	ORPHA:225
HP:0011277	Abnormality of the urinary system physiology	4556	MT-TE	ORPHA:225
HP:0011277	Abnormality of the urinary system physiology	4566	MT-TK	ORPHA:225
HP:0011277	Abnormality of the urinary system physiology	2138	EYA1	ORPHA:107
HP:0011277	Abnormality of the urinary system physiology	147912	SIX5	ORPHA:107
HP:0011277	Abnormality of the urinary system physiology	147912	SIX5	OMIM:610896
HP:0011277	Abnormality of the urinary system physiology	6495	SIX1	ORPHA:107
HP:0011277	Abnormality of the urinary system physiology	229	ALDOB	ORPHA:469
HP:0011277	Abnormality of the urinary system physiology	56052	ALG1	ORPHA:79327
HP:0011277	Abnormality of the urinary system physiology	554	AVPR2	ORPHA:223
HP:0011277	Abnormality of the urinary system physiology	359	AQP2	ORPHA:223
HP:0011277	Abnormality of the urinary system physiology	3931	LCAT	OMIM:245900
HP:0011277	Abnormality of the urinary system physiology	3251	HPRT1	OMIM:300323
HP:0011277	Abnormality of the urinary system physiology	3251	HPRT1	ORPHA:79233
HP:0011277	Abnormality of the urinary system physiology	3251	HPRT1	ORPHA:510
HP:0011277	Abnormality of the urinary system physiology	57169	ZNFX1	OMIM:619644
HP:0011277	Abnormality of the urinary system physiology	92002	CCNQ	ORPHA:140952
HP:0011277	Abnormality of the urinary system physiology	23175	LPIN1	ORPHA:99845
HP:0011277	Abnormality of the urinary system physiology	4512	MT-CO1	ORPHA:99845
HP:0011277	Abnormality of the urinary system physiology	4514	MT-CO3	ORPHA:99845
HP:0011277	Abnormality of the urinary system physiology	9968	MED12	OMIM:301068
HP:0011277	Abnormality of the urinary system physiology	7369	UMOD	OMIM:162000
HP:0011277	Abnormality of the urinary system physiology	79989	IFT56	OMIM:619534
HP:0011277	Abnormality of the urinary system physiology	2717	GLA	OMIM:301500
HP:0011277	Abnormality of the urinary system physiology	2717	GLA	ORPHA:324
HP:0011277	Abnormality of the urinary system physiology	4193	MDM2	OMIM:618681
HP:0011277	Abnormality of the urinary system physiology	10463	SLC30A9	OMIM:617595
HP:0011277	Abnormality of the urinary system physiology	2625	GATA3	ORPHA:2237
HP:0011277	Abnormality of the urinary system physiology	54916	TMEM260	OMIM:617478
HP:0011277	Abnormality of the urinary system physiology	3458	IFNG	ORPHA:805
HP:0011277	Abnormality of the urinary system physiology	7248	TSC1	ORPHA:805
HP:0011277	Abnormality of the urinary system physiology	7249	TSC2	ORPHA:805
HP:0011277	Abnormality of the urinary system physiology	2184	FAH	OMIM:276700
HP:0011277	Abnormality of the urinary system physiology	2542	SLC37A4	OMIM:232240
HP:0011277	Abnormality of the urinary system physiology	286204	CRB2	OMIM:219730
HP:0011277	Abnormality of the urinary system physiology	4615	MYD88	ORPHA:33226
HP:0011277	Abnormality of the urinary system physiology	1376	CPT2	OMIM:255110
HP:0011277	Abnormality of the urinary system physiology	1376	CPT2	OMIM:608836
HP:0011277	Abnormality of the urinary system physiology	1376	CPT2	ORPHA:228302
HP:0011277	Abnormality of the urinary system physiology	1376	CPT2	ORPHA:228308
HP:0011277	Abnormality of the urinary system physiology	27241	BBS9	OMIM:615986
HP:0011277	Abnormality of the urinary system physiology	79738	BBS10	OMIM:615987
HP:0011277	Abnormality of the urinary system physiology	2934	GSN	OMIM:105120
HP:0011277	Abnormality of the urinary system physiology	149233	IL23R	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	6775	STAT4	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	6775	STAT4	ORPHA:93552
HP:0011277	Abnormality of the urinary system physiology	3586	IL10	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	4210	MEFV	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	4210	MEFV	OMIM:134610
HP:0011277	Abnormality of the urinary system physiology	1230	CCR1	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	3592	IL12A	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	7099	TLR4	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	3459	IFNGR1	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	720	C4A	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	337867	UBAC2	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	51752	ERAP1	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	8302	KLRC4	ORPHA:117
HP:0011277	Abnormality of the urinary system physiology	80184	CEP290	OMIM:615991
HP:0011277	Abnormality of the urinary system physiology	80184	CEP290	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	92482	BBIP1	OMIM:615995
HP:0011277	Abnormality of the urinary system physiology	11020	IFT27	OMIM:615996
HP:0011277	Abnormality of the urinary system physiology	10806	SDCCAG8	OMIM:615993
HP:0011277	Abnormality of the urinary system physiology	51259	TMEM216	OMIM:608091
HP:0011277	Abnormality of the urinary system physiology	51259	TMEM216	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	3426	CFI	OMIM:610984
HP:0011277	Abnormality of the urinary system physiology	6696	SPP1	ORPHA:93552
HP:0011277	Abnormality of the urinary system physiology	3654	IRAK1	ORPHA:93552
HP:0011277	Abnormality of the urinary system physiology	79813	EHMT1	ORPHA:96147
HP:0011277	Abnormality of the urinary system physiology	1776	DNASE1L3	ORPHA:36412
HP:0011277	Abnormality of the urinary system physiology	81570	CLPB	ORPHA:445038
HP:0011277	Abnormality of the urinary system physiology	6299	SALL1	OMIM:107480
HP:0011277	Abnormality of the urinary system physiology	6299	SALL1	ORPHA:857
HP:0011277	Abnormality of the urinary system physiology	5076	PAX2	ORPHA:1475
HP:0011277	Abnormality of the urinary system physiology	23729	SHPK	ORPHA:440713
HP:0011277	Abnormality of the urinary system physiology	3939	LDHA	OMIM:612933
HP:0011277	Abnormality of the urinary system physiology	1287	COL4A5	OMIM:301050
HP:0011277	Abnormality of the urinary system physiology	23005	MAPKBP1	OMIM:617271
HP:0011277	Abnormality of the urinary system physiology	10320	IKZF1	ORPHA:36426
HP:0011277	Abnormality of the urinary system physiology	486	FXYD2	OMIM:154020
HP:0011277	Abnormality of the urinary system physiology	1108	CHD4	OMIM:617159
HP:0011277	Abnormality of the urinary system physiology	4221	MEN1	ORPHA:99879
HP:0011277	Abnormality of the urinary system physiology	9247	GCM2	ORPHA:99879
HP:0011277	Abnormality of the urinary system physiology	79583	TMEM231	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	51524	TMEM138	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	23090	ZNF423	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	57545	CC2D2A	ORPHA:2318
HP:0011277	Abnormality of the urinary system physiology	57545	CC2D2A	ORPHA:1454
HP:0011277	Abnormality of the urinary system physiology	5277	PIGA	ORPHA:447
HP:0011277	Abnormality of the urinary system physiology	3291	HSD11B2	ORPHA:320
HP:0011277	Abnormality of the urinary system physiology	7809	BSND	OMIM:602522
HP:0011277	Abnormality of the urinary system physiology	254428	SLC41A1	OMIM:619468
HP:0011277	Abnormality of the urinary system physiology	9451	EIF2AK3	OMIM:226980
HP:0011277	Abnormality of the urinary system physiology	9451	EIF2AK3	ORPHA:1667
HP:0011277	Abnormality of the urinary system physiology	56623	INPP5E	ORPHA:1454
HP:0011277	Abnormality of the urinary system physiology	27031	NPHP3	OMIM:604387
HP:0011277	Abnormality of the urinary system physiology	27031	NPHP3	OMIM:208540
HP:0011277	Abnormality of the urinary system physiology	151516	ASPRV1	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	242	ALOX12B	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	126410	CYP4F22	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	6820	SULT2B1	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	26154	ABCA12	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	643418	LIPN	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	59344	ALOXE3	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	348938	NIPAL4	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	121214	SDR9C7	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	7051	TGM1	ORPHA:313
HP:0011277	Abnormality of the urinary system physiology	56244	BTNL2	ORPHA:797
HP:0011277	Abnormality of the urinary system physiology	23476	BRD4	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	9126	SMC3	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	8243	SMC1A	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	25836	NIPBL	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	55869	HDAC8	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	5885	RAD21	ORPHA:199
HP:0011277	Abnormality of the urinary system physiology	4613	MYCN	ORPHA:391641
HP:0011277	Abnormality of the urinary system physiology	6338	SCNN1B	OMIM:177200
HP:0011277	Abnormality of the urinary system physiology	6338	SCNN1B	ORPHA:526
HP:0011277	Abnormality of the urinary system physiology	3975	LHX1	ORPHA:261265
HP:0011277	Abnormality of the urinary system physiology	6928	HNF1B	ORPHA:261265
HP:0011277	Abnormality of the urinary system physiology	6928	HNF1B	ORPHA:93111
HP:0011277	Abnormality of the urinary system physiology	4576	MT-TT	ORPHA:254857
HP:0011277	Abnormality of the urinary system physiology	1285	COL4A3	OMIM:203780
HP:0011277	Abnormality of the urinary system physiology	1285	COL4A3	OMIM:104200
HP:0011277	Abnormality of the urinary system physiology	1286	COL4A4	OMIM:203780
HP:0011277	Abnormality of the urinary system physiology	189	AGXT	OMIM:259900
HP:0011277	Abnormality of the urinary system physiology	3257	HPS1	OMIM:203300
HP:0011277	Abnormality of the urinary system physiology	54796	BNC2	ORPHA:93110
HP:0011277	Abnormality of the urinary system physiology	2335	FN1	ORPHA:84090
HP:0011277	Abnormality of the urinary system physiology	2335	FN1	OMIM:601894
HP:0011277	Abnormality of the urinary system physiology	23630	KCNE5	ORPHA:86818
HP:0011277	Abnormality of the urinary system physiology	2182	ACSL4	ORPHA:86818
HP:0011277	Abnormality of the urinary system physiology	9949	AMMECR1	ORPHA:86818
HP:0011277	Abnormality of the urinary system physiology	284252	KCTD1	OMIM:181270
HP:0011277	Abnormality of the urinary system physiology	100147744	RNU7-1	OMIM:619487
HP:0011277	Abnormality of the urinary system physiology	6569	SLC34A1	OMIM:613388
HP:0011277	Abnormality of the urinary system physiology	100506658	OCLN	OMIM:251290
HP:0011277	Abnormality of the urinary system physiology	50485	SMARCAL1	OMIM:242900
HP:0011277	Abnormality of the urinary system physiology	51339	DACT1	ORPHA:857
HP:0011277	Abnormality of the urinary system physiology	199221	DZIP1L	ORPHA:731
HP:0011277	Abnormality of the urinary system physiology	5264	PHYH	ORPHA:773
HP:0011277	Abnormality of the urinary system physiology	5191	PEX7	ORPHA:773
HP:0011277	Abnormality of the urinary system physiology	348	APOE	OMIM:611771
HP:0011277	Abnormality of the urinary system physiology	25974	MMACHC	ORPHA:79282
HP:0011277	Abnormality of the urinary system physiology	25974	MMACHC	OMIM:277400
HP:0011277	Abnormality of the urinary system physiology	55005	RMND1	OMIM:614922
HP:0011277	Abnormality of the urinary system physiology	6340	SCNN1G	ORPHA:526
HP:0011277	Abnormality of the urinary system physiology	6337	SCNN1A	ORPHA:526
HP:0011277	Abnormality of the urinary system physiology	4853	NOTCH2	OMIM:610205
HP:0011277	Abnormality of the urinary system physiology	8481	OFD1	ORPHA:2750
HP:0011277	Abnormality of the urinary system physiology	23592	LEMD3	ORPHA:1306
HP:0011277	Abnormality of the urinary system physiology	81494	CFHR5	OMIM:614809
HP:0011277	Abnormality of the urinary system physiology	3735	KARS1	OMIM:619147
HP:0011277	Abnormality of the urinary system physiology	5087	PBX1	OMIM:617641
HP:0011277	Abnormality of the urinary system physiology	1235	CCR6	ORPHA:220393
HP:0011277	Abnormality of the urinary system physiology	1490	CCN2	ORPHA:220393
HP:0011277	Abnormality of the urinary system physiology	3663	IRF5	ORPHA:220393
HP:0011277	Abnormality of the urinary system physiology	857	CAV1	ORPHA:220393
HP:0011277	Abnormality of the urinary system physiology	4627	MYH9	ORPHA:182050
HP:0011277	Abnormality of the urinary system physiology	9935	MAFB	OMIM:166300
HP:0011277	Abnormality of the urinary system physiology	3145	HMBS	ORPHA:79276
HP:0011277	Abnormality of the urinary system physiology	5052	PRDX1	OMIM:277400
HP:0011277	Abnormality of the urinary system physiology	25970	SH2B1	ORPHA:261222
HP:0011277	Abnormality of the urinary system physiology	2132	EXT2	OMIM:616682
HP:0011277	Abnormality of the urinary system physiology	55654	TMEM127	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	55654	TMEM127	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	5979	RET	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	5979	RET	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	5979	RET	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	6390	SDHB	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	6390	SDHB	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	6390	SDHB	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	6392	SDHD	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	6392	SDHD	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	6392	SDHD	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	4149	MAX	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	4149	MAX	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	7428	VHL	OMIM:171300
HP:0011277	Abnormality of the urinary system physiology	7428	VHL	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	7428	VHL	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	396	ARHGDIA	OMIM:615244
HP:0011277	Abnormality of the urinary system physiology	396	ARHGDIA	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	3162	HMOX1	OMIM:614034
HP:0011277	Abnormality of the urinary system physiology	25959	KANK2	OMIM:617783
HP:0011277	Abnormality of the urinary system physiology	65082	VPS33A	OMIM:617303
HP:0011277	Abnormality of the urinary system physiology	65082	VPS33A	ORPHA:505248
HP:0011277	Abnormality of the urinary system physiology	6595	SMARCA2	ORPHA:2728
HP:0011277	Abnormality of the urinary system physiology	8526	DGKE	OMIM:615008
HP:0011277	Abnormality of the urinary system physiology	79693	YRDC	OMIM:619609
HP:0011277	Abnormality of the urinary system physiology	7827	NPHS2	OMIM:600995
HP:0011277	Abnormality of the urinary system physiology	7827	NPHS2	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	1777	DNASE2	OMIM:619858
HP:0011277	Abnormality of the urinary system physiology	2538	G6PC1	OMIM:232200
HP:0011277	Abnormality of the urinary system physiology	6773	STAT2	OMIM:618886
HP:0011277	Abnormality of the urinary system physiology	1801	DPH1	OMIM:616901
HP:0011277	Abnormality of the urinary system physiology	84823	LMNB2	ORPHA:79087
HP:0011277	Abnormality of the urinary system physiology	84823	LMNB2	OMIM:608709
HP:0011277	Abnormality of the urinary system physiology	1788	DNMT3A	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	2034	EPAS1	ORPHA:276621
HP:0011277	Abnormality of the urinary system physiology	83480	PUS3	ORPHA:488627
HP:0011277	Abnormality of the urinary system physiology	4036	LRP2	ORPHA:2143
HP:0011277	Abnormality of the urinary system physiology	4036	LRP2	OMIM:222448
HP:0011277	Abnormality of the urinary system physiology	54	ACP5	ORPHA:1855
HP:0011277	Abnormality of the urinary system physiology	5373	PMM2	OMIM:212065
HP:0011277	Abnormality of the urinary system physiology	5373	PMM2	ORPHA:79318
HP:0011277	Abnormality of the urinary system physiology	4069	LYZ	OMIM:105200
HP:0011277	Abnormality of the urinary system physiology	2243	FGA	OMIM:105200
HP:0011277	Abnormality of the urinary system physiology	335	APOA1	OMIM:105200
HP:0011277	Abnormality of the urinary system physiology	567	B2M	OMIM:105200
HP:0011277	Abnormality of the urinary system physiology	5972	REN	OMIM:613092
HP:0011277	Abnormality of the urinary system physiology	8879	SGPL1	OMIM:617575
HP:0011277	Abnormality of the urinary system physiology	11277	TREX1	OMIM:192315
HP:0011277	Abnormality of the urinary system physiology	11277	TREX1	ORPHA:247691
HP:0011277	Abnormality of the urinary system physiology	1743	DLST	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	4191	MDH2	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	6389	SDHA	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	23095	KIF1B	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	8402	SLC25A11	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	54949	SDHAF2	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	4763	NF1	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	6391	SDHC	ORPHA:29072
HP:0011277	Abnormality of the urinary system physiology	2321	FLT1	ORPHA:275555
HP:0011277	Abnormality of the urinary system physiology	219736	STOX1	ORPHA:275555
HP:0011277	Abnormality of the urinary system physiology	10699	CORIN	ORPHA:275555
HP:0011277	Abnormality of the urinary system physiology	4094	MAF	ORPHA:1272
HP:0011277	Abnormality of the urinary system physiology	3913	LAMB2	OMIM:614199
HP:0011277	Abnormality of the urinary system physiology	3913	LAMB2	OMIM:609049
HP:0011277	Abnormality of the urinary system physiology	5800	PTPRO	OMIM:614196
HP:0011277	Abnormality of the urinary system physiology	5800	PTPRO	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	6288	SAA1	ORPHA:85445
HP:0011277	Abnormality of the urinary system physiology	10253	SPRY2	OMIM:616818
HP:0011277	Abnormality of the urinary system physiology	4846	NOS3	OMIM:189800
HP:0011277	Abnormality of the urinary system physiology	2303	FOXC2	ORPHA:33001
HP:0011277	Abnormality of the urinary system physiology	5836	PYGL	ORPHA:369
HP:0011277	Abnormality of the urinary system physiology	51196	PLCE1	OMIM:610725
HP:0011277	Abnormality of the urinary system physiology	51196	PLCE1	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	2629	GBA1	ORPHA:77261
HP:0011277	Abnormality of the urinary system physiology	2629	GBA1	ORPHA:77259
HP:0011277	Abnormality of the urinary system physiology	54443	ANLN	OMIM:616032
HP:0011277	Abnormality of the urinary system physiology	54443	ANLN	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	51004	COQ6	OMIM:614650
HP:0011277	Abnormality of the urinary system physiology	7535	ZAP70	OMIM:617006
HP:0011277	Abnormality of the urinary system physiology	57107	PDSS2	OMIM:614652
HP:0011277	Abnormality of the urinary system physiology	6559	SLC12A3	ORPHA:358
HP:0011277	Abnormality of the urinary system physiology	1288	COL4A6	ORPHA:1018
HP:0011277	Abnormality of the urinary system physiology	4558	MT-TF	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4572	MT-TQ	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4513	MT-CO2	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4578	MT-TW	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4540	MT-ND5	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4541	MT-ND6	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4535	MT-ND1	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4538	MT-ND4	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4575	MT-TS2	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	4564	MT-TH	ORPHA:550
HP:0011277	Abnormality of the urinary system physiology	10785	WDR4	OMIM:618347
HP:0011277	Abnormality of the urinary system physiology	10785	WDR4	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	57122	NUP107	OMIM:618348
HP:0011277	Abnormality of the urinary system physiology	57122	NUP107	OMIM:616730
HP:0011277	Abnormality of the urinary system physiology	57122	NUP107	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	57122	NUP107	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	55746	NUP133	OMIM:618349
HP:0011277	Abnormality of the urinary system physiology	55746	NUP133	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	55746	NUP133	OMIM:618177
HP:0011277	Abnormality of the urinary system physiology	55746	NUP133	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	4179	CD46	OMIM:612922
HP:0011277	Abnormality of the urinary system physiology	4179	CD46	ORPHA:244242
HP:0011277	Abnormality of the urinary system physiology	629	CFB	OMIM:612924
HP:0011277	Abnormality of the urinary system physiology	7056	THBD	OMIM:612926
HP:0011277	Abnormality of the urinary system physiology	55243	KIRREL1	OMIM:619201
HP:0011277	Abnormality of the urinary system physiology	9342	SNAP29	ORPHA:66631
HP:0011277	Abnormality of the urinary system physiology	11093	ADAMTS13	OMIM:274150
HP:0011277	Abnormality of the urinary system physiology	9688	NUP93	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	4643	MYO1E	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	4643	MYO1E	OMIM:614131
HP:0011277	Abnormality of the urinary system physiology	64423	INF2	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	64423	INF2	OMIM:613237
HP:0011277	Abnormality of the urinary system physiology	64423	INF2	OMIM:614455
HP:0011277	Abnormality of the urinary system physiology	26130	GAPVD1	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	51479	ANKFY1	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	23165	NUP205	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	2013	EMP2	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	79023	NUP37	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	79902	NUP85	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	79902	NUP85	OMIM:618176
HP:0011277	Abnormality of the urinary system physiology	79934	COQ8B	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	79934	COQ8B	OMIM:615573
HP:0011277	Abnormality of the urinary system physiology	23279	NUP160	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	23279	NUP160	OMIM:618178
HP:0011277	Abnormality of the urinary system physiology	9863	MAGI2	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	9863	MAGI2	OMIM:617609
HP:0011277	Abnormality of the urinary system physiology	81	ACTN4	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	81	ACTN4	OMIM:603278
HP:0011277	Abnormality of the urinary system physiology	7225	TRPC6	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	7225	TRPC6	OMIM:603965
HP:0011277	Abnormality of the urinary system physiology	8542	APOL1	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	54885	TBC1D8B	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	54885	TBC1D8B	OMIM:301028
HP:0011277	Abnormality of the urinary system physiology	83478	ARHGAP24	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	23500	DAAM2	ORPHA:656
HP:0011277	Abnormality of the urinary system physiology	9663	LPIN2	ORPHA:77297
HP:0011277	Abnormality of the urinary system physiology	27235	COQ2	OMIM:607426
HP:0011277	Abnormality of the urinary system physiology	55644	OSGEP	OMIM:617729
HP:0011277	Abnormality of the urinary system physiology	55644	OSGEP	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	112858	TP53RK	OMIM:617730
HP:0011277	Abnormality of the urinary system physiology	112858	TP53RK	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	8270	LAGE3	OMIM:301006
HP:0011277	Abnormality of the urinary system physiology	8270	LAGE3	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	51002	TPRKB	OMIM:617731
HP:0011277	Abnormality of the urinary system physiology	51002	TPRKB	ORPHA:2065
HP:0011277	Abnormality of the urinary system physiology	10651	MTX2	OMIM:619127
HP:0011277	Abnormality of the urinary system physiology	3075	CFH	ORPHA:244242
HP:0011277	Abnormality of the urinary system physiology	101101692	HELLPAR	ORPHA:244242
HP:0011277	Abnormality of the urinary system physiology	55898	UNC45A	OMIM:619377
HP:0011277	Abnormality of the urinary system physiology	8516	ITGA8	OMIM:191830
HP:0011277	Abnormality of the urinary system physiology	9051	PSTPIP1	ORPHA:69126
HP:0011277	Abnormality of the urinary system physiology	54938	SARS2	OMIM:613845
HP:0011277	Abnormality of the urinary system physiology	22909	FAN1	OMIM:614817
HP:0011277	Abnormality of the urinary system physiology	8651	SOCS1	OMIM:619375
HP:0011277	Abnormality of the urinary system physiology	975	CD81	OMIM:613496
HP:0011277	Abnormality of the urinary system physiology	50943	FOXP3	OMIM:304790
HP:0011277	Abnormality of the urinary system physiology	81603	TRIM8	OMIM:619428
HP:0011277	Abnormality of the urinary system physiology	5921	RASA1	ORPHA:90307
HP:0011277	Abnormality of the urinary system physiology	708	C1QBP	OMIM:617713
HP:0011277	Abnormality of the urinary system physiology	79415	CYBC1	OMIM:618935
HP:0011277	Abnormality of the urinary system physiology	6662	SOX9	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	6845	VAMP7	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	51741	WWOX	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	4214	MAP3K1	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	2516	NR5A1	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	58524	DMRT3	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	57647	DHX37	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	6736	SRY	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	23414	ZFPM2	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	2626	GATA4	ORPHA:251510
HP:0011277	Abnormality of the urinary system physiology	582	BBS1	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	49855	SCAPER	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	51057	WDPCP	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	84984	CEP19	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	22954	TRIM32	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	54903	MKS1	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	123016	TTC8	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	583	BBS2	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	585	BBS4	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	8195	MKKS	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	55212	BBS7	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	166379	BBS12	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	157657	CFAP418	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	84100	ARL6	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	129880	BBS5	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	80173	IFT74	ORPHA:110
HP:0011277	Abnormality of the urinary system physiology	5265	SERPINA1	ORPHA:60
HP:0011277	Abnormality of the urinary system physiology	6023	RMRP	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	55636	CHD7	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	3981	LIG4	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	5896	RAG1	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	5897	RAG2	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	64421	DCLRE1C	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	100	ADA	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	3575	IL7R	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	3561	IL2RG	ORPHA:39041
HP:0011277	Abnormality of the urinary system physiology	113189	CHST14	OMIM:601776
HP:0011277	Abnormality of the urinary system physiology	64135	IFIH1	OMIM:615846
HP:0011277	Abnormality of the urinary system physiology	26503	SLC17A5	OMIM:269920
HP:0011277	Abnormality of the urinary system physiology	83483	PLVAP	OMIM:618183
HP:0011277	Abnormality of the urinary system physiology	9365	KL	OMIM:617994
HP:0011277	Abnormality of the urinary system physiology	3710	ITPR3	OMIM:222100
HP:0011277	Abnormality of the urinary system physiology	3569	IL6	OMIM:222100
HP:0011277	Abnormality of the urinary system physiology	6651	SON	OMIM:617140
HP:0011277	Abnormality of the urinary system physiology	58528	RRAGD	OMIM:620152
HP:0011277	Abnormality of the urinary system physiology	7454	WAS	OMIM:301000
HP:0011277	Abnormality of the urinary system physiology	7454	WAS	ORPHA:906
HP:0011277	Abnormality of the urinary system physiology	7456	WIPF1	ORPHA:906
HP:0011277	Abnormality of the urinary system physiology	2299	FOXI1	ORPHA:705
HP:0011277	Abnormality of the urinary system physiology	5172	SLC26A4	ORPHA:705
HP:0011277	Abnormality of the urinary system physiology	51816	ADA2	ORPHA:820
HP:0011277	Abnormality of the urinary system physiology	3090	HIC1	ORPHA:531
HP:0011277	Abnormality of the urinary system physiology	5048	PAFAH1B1	ORPHA:531
HP:0011277	Abnormality of the urinary system physiology	7531	YWHAE	ORPHA:531
HP:0011277	Abnormality of the urinary system physiology	4351	MPI	OMIM:602579
HP:0011277	Abnormality of the urinary system physiology	54539	NDUFB11	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	51103	NDUFAF1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	91942	NDUFAF2	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	51300	TIMMDC1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4723	NDUFV1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	55572	FOXRED1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	284184	NDUFAF8	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4729	NDUFV2	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4694	NDUFA1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4726	NDUFS6	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4728	NDUFS8	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4722	NDUFS3	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	79133	NDUFAF5	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	126328	NDUFA11	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4709	NDUFB3	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	80224	NUBPL	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	29078	NDUFAF4	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	374291	NDUFS7	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4700	NDUFA6	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4719	NDUFS1	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	4715	NDUFB9	ORPHA:2609
HP:0011277	Abnormality of the urinary system physiology	57511	COG6	OMIM:614576
HP:0011277	Abnormality of the urinary system physiology	3636	INPPL1	OMIM:258480
HP:0011277	Abnormality of the urinary system physiology	5340	PLG	OMIM:217090
HP:0011277	Abnormality of the urinary system physiology	5824	PEX19	OMIM:614886
HP:0011277	Abnormality of the urinary system physiology	3759	KCNJ2	ORPHA:37553
HP:0011277	Abnormality of the urinary system physiology	1589	CYP21A2	OMIM:201910
HP:0011277	Abnormality of the urinary system physiology	190	NR0B1	OMIM:300200
HP:0011277	Abnormality of the urinary system physiology	3773	KCNJ16	OMIM:619406
HP:0011277	Abnormality of the urinary system physiology	3284	HSD3B2	ORPHA:90791
HP:0011277	Abnormality of the urinary system physiology	1584	CYP11B1	ORPHA:90795
HP:0011277	Abnormality of the urinary system physiology	3655	ITGA6	ORPHA:79403
HP:0011277	Abnormality of the urinary system physiology	3691	ITGB4	ORPHA:79403
HP:0011277	Abnormality of the urinary system physiology	6720	SREBF1	OMIM:158310
HP:0011277	Abnormality of the urinary system physiology	23395	LARS2	OMIM:617021
HP:0011277	Abnormality of the urinary system physiology	10413	YAP1	ORPHA:1473
HP:0011277	Abnormality of the urinary system physiology	10413	YAP1	OMIM:120433
HP:0011277	Abnormality of the urinary system physiology	5978	REST	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	129563	DIS3L2	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	9319	TRIP13	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	10155	TRIM28	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	11281	POU6F2	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	2719	GPC3	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	283120	H19	ORPHA:654
HP:0011277	Abnormality of the urinary system physiology	55109	AGGF1	ORPHA:90308
HP:0011277	Abnormality of the urinary system physiology	2159	F10	ORPHA:328
HP:0011277	Abnormality of the urinary system physiology	2153	F5	ORPHA:326
HP:0011277	Abnormality of the urinary system physiology	6711	SPTBN1	OMIM:619475
HP:0011277	Abnormality of the urinary system physiology	5345	SERPINF2	ORPHA:79
HP:0011277	Abnormality of the urinary system physiology	3998	LMAN1	ORPHA:35909
HP:0011277	Abnormality of the urinary system physiology	90411	MCFD2	ORPHA:35909
HP:0011277	Abnormality of the urinary system physiology	6786	STIM1	OMIM:185070
HP:0011277	Abnormality of the urinary system physiology	3673	ITGA2	ORPHA:853
HP:0011277	Abnormality of the urinary system physiology	135228	CD109	ORPHA:853
HP:0011277	Abnormality of the urinary system physiology	2658	GDF2	ORPHA:774
HP:0011277	Abnormality of the urinary system physiology	94	ACVRL1	ORPHA:774
HP:0011277	Abnormality of the urinary system physiology	2022	ENG	ORPHA:774
HP:0011277	Abnormality of the urinary system physiology	5371	PML	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	5914	RARA	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	359948	IRF2BP2	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	81608	FIP1L1	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	4869	NPM1	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	54880	BCOR	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	64859	NABP1	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	6777	STAT5B	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	4926	NUMA1	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	7704	ZBTB16	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	79718	TBL1XR1	ORPHA:520
HP:0011277	Abnormality of the urinary system physiology	10568	SLC34A2	ORPHA:60025
HP:0011277	Abnormality of the urinary system physiology	712	C1QA	OMIM:613652
HP:0011277	Abnormality of the urinary system physiology	5238	PGM3	ORPHA:443811
HP:0011277	Abnormality of the urinary system physiology	5238	PGM3	OMIM:615816
HP:0011277	Abnormality of the urinary system physiology	525	ATP6V1B1	OMIM:267300
HP:0011277	Abnormality of the urinary system physiology	57551	TAOK1	OMIM:619575
HP:0011277	Abnormality of the urinary system physiology	26235	FBXL4	OMIM:615471
HP:0011277	Abnormality of the urinary system physiology	5257	PHKB	ORPHA:79240
HP:0011277	Abnormality of the urinary system physiology	25915	NDUFAF3	ORPHA:70474
HP:0011277	Abnormality of the urinary system physiology	4714	NDUFB8	ORPHA:70474
HP:0011277	Abnormality of the urinary system physiology	4720	NDUFS2	ORPHA:70474
HP:0011277	Abnormality of the urinary system physiology	9997	SCO2	ORPHA:70474
HP:0011277	Abnormality of the urinary system physiology	5256	PHKA2	ORPHA:264580
HP:0011277	Abnormality of the urinary system physiology	5261	PHKG2	ORPHA:264580
HP:0011277	Abnormality of the urinary system physiology	57724	EPG5	ORPHA:1493
HP:0011277	Abnormality of the urinary system physiology	283209	PGM2L1	OMIM:620191
HP:0011277	Abnormality of the urinary system physiology	291	SLC25A4	OMIM:617184
HP:0011277	Abnormality of the urinary system physiology	51660	MPC1	OMIM:614741
HP:0011277	Abnormality of the urinary system physiology	80308	FLAD1	OMIM:255100
HP:0011277	Abnormality of the urinary system physiology	686	BTD	OMIM:253260
HP:0011277	Abnormality of the urinary system physiology	686	BTD	ORPHA:79241
HP:0011277	Abnormality of the urinary system physiology	60386	SLC25A19	ORPHA:99742
HP:0011277	Abnormality of the urinary system physiology	79581	SLC52A2	OMIM:614707
HP:0011277	Abnormality of the urinary system physiology	84300	UQCC2	OMIM:615824
HP:0011277	Abnormality of the urinary system physiology	5091	PC	OMIM:266150
HP:0011277	Abnormality of the urinary system physiology	760	CA2	ORPHA:2785
HP:0011277	Abnormality of the urinary system physiology	51604	PIGT	OMIM:615398
HP:0011277	Abnormality of the urinary system physiology	51604	PIGT	ORPHA:369837
HP:0011277	Abnormality of the urinary system physiology	3643	INSR	ORPHA:508
HP:0011277	Abnormality of the urinary system physiology	2767	GNA11	ORPHA:428
HP:0011277	Abnormality of the urinary system physiology	56606	SLC2A9	ORPHA:94088
HP:0011277	Abnormality of the urinary system physiology	116085	SLC22A12	ORPHA:94088
HP:0011277	Abnormality of the urinary system physiology	55811	ADCY10	OMIM:143870
HP:0011277	Abnormality of the urinary system physiology	55811	ADCY10	ORPHA:2197
HP:0011277	Abnormality of the urinary system physiology	249	ALPL	OMIM:241500
HP:0011277	Abnormality of the urinary system physiology	10686	CLDN16	OMIM:248250
HP:0011277	Abnormality of the urinary system physiology	1027	CDKN1B	ORPHA:652
HP:0011277	Abnormality of the urinary system physiology	1026	CDKN1A	ORPHA:652
HP:0011277	Abnormality of the urinary system physiology	1030	CDKN2B	ORPHA:652
HP:0011277	Abnormality of the urinary system physiology	1031	CDKN2C	ORPHA:652
HP:0011277	Abnormality of the urinary system physiology	10916	MAGED2	OMIM:300971
HP:0011277	Abnormality of the urinary system physiology	2212	FCGR2A	OMIM:219700
HP:0011277	Abnormality of the urinary system physiology	7040	TGFB1	OMIM:219700
HP:0011277	Abnormality of the urinary system physiology	1080	CFTR	OMIM:219700
HP:0011277	Abnormality of the urinary system physiology	5286	PIK3C2A	OMIM:618440
HP:0011277	Abnormality of the urinary system physiology	3762	KCNJ5	OMIM:613677
HP:0011277	Abnormality of the urinary system physiology	3762	KCNJ5	ORPHA:251274
HP:0011277	Abnormality of the urinary system physiology	4982	TNFRSF11B	OMIM:239000
HP:0011277	Abnormality of the urinary system physiology	50617	ATP6V0A4	OMIM:602722
HP:0011277	Abnormality of the urinary system physiology	6557	SLC12A1	OMIM:601678
HP:0011277	Abnormality of the urinary system physiology	3758	KCNJ1	OMIM:241200
HP:0011277	Abnormality of the urinary system physiology	149461	CLDN19	OMIM:248190
HP:0011277	Abnormality of the urinary system physiology	1591	CYP24A1	OMIM:143880
HP:0011277	Abnormality of the urinary system physiology	1028	CDKN1C	OMIM:614732
HP:0011277	Abnormality of the urinary system physiology	444	ASPH	OMIM:601552
HP:0011277	Abnormality of the urinary system physiology	4552	MTRR	OMIM:236270
HP:0011277	Abnormality of the urinary system physiology	4524	MTHFR	OMIM:236250
HP:0011277	Abnormality of the urinary system physiology	4524	MTHFR	ORPHA:395
HP:0011277	Abnormality of the urinary system physiology	55788	LMBRD1	OMIM:277380
HP:0011277	Abnormality of the urinary system physiology	3054	HCFC1	OMIM:309541
HP:0011277	Abnormality of the urinary system physiology	875	CBS	OMIM:236200
HP:0011277	Abnormality of the urinary system physiology	5826	ABCD4	OMIM:614857
HP:0011277	Abnormality of the urinary system physiology	4548	MTR	OMIM:250940
HP:0011277	Abnormality of the urinary system physiology	27249	MMADHC	OMIM:277410
HP:0011277	Abnormality of the urinary system physiology	6448	SGSH	OMIM:252900
HP:0011277	Abnormality of the urinary system physiology	138050	HGSNAT	OMIM:252930
HP:0011277	Abnormality of the urinary system physiology	4669	NAGLU	OMIM:252920
HP:0011277	Abnormality of the urinary system physiology	2799	GNS	OMIM:252940
HP:0011277	Abnormality of the urinary system physiology	2147	F2	ORPHA:325
HP:0011277	Abnormality of the urinary system physiology	1594	CYP27B1	OMIM:264700
HP:0011277	Abnormality of the urinary system physiology	1594	CYP27B1	ORPHA:289157
HP:0011277	Abnormality of the urinary system physiology	120227	CYP2R1	ORPHA:289157
HP:0011277	Abnormality of the urinary system physiology	1716	DGUOK	OMIM:251880
HP:0011277	Abnormality of the urinary system physiology	23479	ISCU	OMIM:255125
HP:0011277	Abnormality of the urinary system physiology	226	ALDOA	ORPHA:57
HP:0011277	Abnormality of the urinary system physiology	90523	MLIP	OMIM:620138
HP:0011277	Abnormality of the urinary system physiology	6443	SGCB	ORPHA:119
HP:0011277	Abnormality of the urinary system physiology	3030	HADHA	OMIM:609015
HP:0011277	Abnormality of the urinary system physiology	203859	ANO5	ORPHA:206549
HP:0011277	Abnormality of the urinary system physiology	38	ACAT1	ORPHA:134
HP:0011277	Abnormality of the urinary system physiology	84987	COX14	OMIM:619053
HP:0011277	Abnormality of the urinary system physiology	10128	LRPPRC	OMIM:220111
HP:0011277	Abnormality of the urinary system physiology	5105	PCK1	OMIM:261680
HP:0011277	Abnormality of the urinary system physiology	1537	CYC1	OMIM:615453
HP:0011277	Abnormality of the urinary system physiology	5019	OXCT1	OMIM:245050
HP:0011277	Abnormality of the urinary system physiology	128989	TANGO2	ORPHA:480864
HP:0011277	Abnormality of the urinary system physiology	128989	TANGO2	OMIM:616878
HP:0011277	Abnormality of the urinary system physiology	6566	SLC16A1	OMIM:616095
HP:0011277	Abnormality of the urinary system physiology	56922	MCCC1	OMIM:210200
HP:0011277	Abnormality of the urinary system physiology	3034	HAL	OMIM:235800
HP:0011277	Abnormality of the urinary system physiology	3034	HAL	ORPHA:2157
HP:0011277	Abnormality of the urinary system physiology	3767	KCNJ11	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	3767	KCNJ11	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	8462	KLF11	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	2645	GCK	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	2645	GCK	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	26060	APPL1	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	640	BLK	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	1056	CEL	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	4760	NEUROD1	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	3651	PDX1	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	3651	PDX1	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	6833	ABCC8	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	6833	ABCC8	OMIM:618857
HP:0011277	Abnormality of the urinary system physiology	6833	ABCC8	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	5078	PAX4	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	6927	HNF1A	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	3630	INS	ORPHA:552
HP:0011277	Abnormality of the urinary system physiology	3630	INS	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	6524	SLC5A2	ORPHA:69076
HP:0011277	Abnormality of the urinary system physiology	6524	SLC5A2	OMIM:233100
HP:0011277	Abnormality of the urinary system physiology	286053	NSMCE2	OMIM:617253
HP:0011277	Abnormality of the urinary system physiology	2627	GATA6	OMIM:600001
HP:0011277	Abnormality of the urinary system physiology	57570	TRMT5	OMIM:616539
HP:0011277	Abnormality of the urinary system physiology	2998	GYS2	ORPHA:2089
HP:0011277	Abnormality of the urinary system physiology	387700	SLC16A12	OMIM:612018
HP:0011277	Abnormality of the urinary system physiology	4000	LMNA	ORPHA:79474
HP:0011277	Abnormality of the urinary system physiology	6774	STAT3	ORPHA:99885
HP:0011277	Abnormality of the urinary system physiology	8792	TNFRSF11A	OMIM:602080
HP:0011277	Abnormality of the urinary system physiology	8792	TNFRSF11A	OMIM:174810
HP:0011277	Abnormality of the urinary system physiology	5352	PLOD2	OMIM:609220
HP:0011277	Abnormality of the urinary system physiology	2731	GLDC	OMIM:605899
HP:0011277	Abnormality of the urinary system physiology	275	AMT	OMIM:605899
HP:0011277	Abnormality of the urinary system physiology	3712	IVD	OMIM:243500
HP:0011277	Abnormality of the urinary system physiology	153201	SLC36A2	OMIM:242600
HP:0011277	Abnormality of the urinary system physiology	153201	SLC36A2	ORPHA:42062
HP:0011277	Abnormality of the urinary system physiology	153201	SLC36A2	OMIM:138500
HP:0011277	Abnormality of the urinary system physiology	27247	NFU1	OMIM:605711
HP:0011277	Abnormality of the urinary system physiology	348932	SLC6A18	ORPHA:42062
HP:0011277	Abnormality of the urinary system physiology	54716	SLC6A20	ORPHA:42062
HP:0011277	Abnormality of the urinary system physiology	340024	SLC6A19	ORPHA:42062
HP:0011277	Abnormality of the urinary system physiology	34	ACADM	OMIM:201450
HP:0011277	Abnormality of the urinary system physiology	5625	PRODH	OMIM:239500
HP:0011277	Abnormality of the urinary system physiology	64087	MCCC2	OMIM:210210
HP:0011277	Abnormality of the urinary system physiology	5095	PCCA	OMIM:606054
HP:0011277	Abnormality of the urinary system physiology	5096	PCCB	OMIM:606054
HP:0011277	Abnormality of the urinary system physiology	8074	FGF23	ORPHA:89937
HP:0011277	Abnormality of the urinary system physiology	5745	PTH1R	OMIM:156400
HP:0011277	Abnormality of the urinary system physiology	142680	SLC34A3	ORPHA:157215
HP:0011277	Abnormality of the urinary system physiology	1758	DMP1	ORPHA:289176
HP:0011277	Abnormality of the urinary system physiology	5167	ENPP1	ORPHA:289176
HP:0011277	Abnormality of the urinary system physiology	5167	ENPP1	ORPHA:51608
HP:0011277	Abnormality of the urinary system physiology	5167	ENPP1	OMIM:613312
HP:0011277	Abnormality of the urinary system physiology	368	ABCC6	ORPHA:51608
HP:0011277	Abnormality of the urinary system physiology	9368	NHERF1	OMIM:612287
HP:0011277	Abnormality of the urinary system physiology	3845	KRAS	OMIM:163200
HP:0011277	Abnormality of the urinary system physiology	4893	NRAS	OMIM:163200
HP:0011277	Abnormality of the urinary system physiology	2778	GNAS	ORPHA:562
HP:0011277	Abnormality of the urinary system physiology	6514	SLC2A2	OMIM:227810
HP:0011277	Abnormality of the urinary system physiology	6514	SLC2A2	ORPHA:2088
HP:0011277	Abnormality of the urinary system physiology	51181	DCXR	OMIM:260800
HP:0011277	Abnormality of the urinary system physiology	112817	HOGA1	ORPHA:93600
HP:0011277	Abnormality of the urinary system physiology	84133	ZNRF3	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	7157	TP53	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	5573	PRKAR1A	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	1499	CTNNB1	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	1029	CDKN2A	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	7015	TERT	ORPHA:1501
HP:0011277	Abnormality of the urinary system physiology	5251	PHEX	ORPHA:89936
HP:0011277	Abnormality of the urinary system physiology	3766	KCNJ10	OMIM:612780
HP:0011277	Abnormality of the urinary system physiology	9581	PREPL	OMIM:616224
HP:0011277	Abnormality of the urinary system physiology	9581	PREPL	ORPHA:163690
HP:0011277	Abnormality of the urinary system physiology	9581	PREPL	ORPHA:163693
HP:0011277	Abnormality of the urinary system physiology	5495	PPM1B	ORPHA:163693
HP:0011277	Abnormality of the urinary system physiology	79823	CAMKMT	ORPHA:163693
HP:0011277	Abnormality of the urinary system physiology	26873	OPLAH	OMIM:260005
HP:0011277	Abnormality of the urinary system physiology	79783	SUGCT	ORPHA:35706
HP:0011277	Abnormality of the urinary system physiology	79783	SUGCT	OMIM:231690
HP:0011277	Abnormality of the urinary system physiology	2639	GCDH	ORPHA:25
HP:0011277	Abnormality of the urinary system physiology	2639	GCDH	OMIM:231670
HP:0011277	Abnormality of the urinary system physiology	728294	D2HGDH	OMIM:600721
HP:0011277	Abnormality of the urinary system physiology	1491	CTH	OMIM:219500
HP:0011277	Abnormality of the urinary system physiology	1491	CTH	ORPHA:212
HP:0011277	Abnormality of the urinary system physiology	9915	ARNT2	OMIM:615926
HP:0011277	Abnormality of the urinary system physiology	10861	SLC26A1	OMIM:167030
HP:0011277	Abnormality of the urinary system physiology	3242	HPD	OMIM:276710
HP:0011277	Abnormality of the urinary system physiology	3242	HPD	OMIM:140350
HP:0011277	Abnormality of the urinary system physiology	3242	HPD	ORPHA:2118
HP:0011277	Abnormality of the urinary system physiology	6898	TAT	OMIM:276600
HP:0011277	Abnormality of the urinary system physiology	7019	TFAM	OMIM:617156
HP:0011277	Abnormality of the urinary system physiology	5498	PPOX	OMIM:176200
HP:0011277	Abnormality of the urinary system physiology	5498	PPOX	ORPHA:79473
HP:0011277	Abnormality of the urinary system physiology	3077	HFE	OMIM:176200
HP:0011277	Abnormality of the urinary system physiology	10243	GPHN	OMIM:615501
HP:0011277	Abnormality of the urinary system physiology	197322	ACSF3	ORPHA:289504
HP:0011277	Abnormality of the urinary system physiology	55687	TRMU	OMIM:613070
HP:0011277	Abnormality of the urinary system physiology	37	ACADVL	OMIM:201475
HP:0011277	Abnormality of the urinary system physiology	3033	HADH	OMIM:231530
HP:0011277	Abnormality of the urinary system physiology	3033	HADH	ORPHA:71212
HP:0011277	Abnormality of the urinary system physiology	1374	CPT1A	OMIM:255120
HP:0011277	Abnormality of the urinary system physiology	55065	SLC52A1	OMIM:615026
HP:0011277	Abnormality of the urinary system physiology	788	SLC25A20	OMIM:212138
HP:0011277	Abnormality of the urinary system physiology	788	SLC25A20	ORPHA:159
HP:0011277	Abnormality of the urinary system physiology	28976	ACAD9	OMIM:611126
HP:0011277	Abnormality of the urinary system physiology	28976	ACAD9	ORPHA:99901
HP:0011277	Abnormality of the urinary system physiology	5195	PEX14	OMIM:614887
HP:0011277	Abnormality of the urinary system physiology	27034	ACAD8	ORPHA:79159
HP:0011277	Abnormality of the urinary system physiology	6584	SLC22A5	OMIM:212140
HP:0011277	Abnormality of the urinary system physiology	790	CAD	OMIM:616457
HP:0011277	Abnormality of the urinary system physiology	383	ARG1	OMIM:207800
HP:0011277	Abnormality of the urinary system physiology	445	ASS1	OMIM:215700
HP:0011277	Abnormality of the urinary system physiology	498	ATP5F1A	OMIM:620358
HP:0011277	Abnormality of the urinary system physiology	10166	SLC25A15	ORPHA:415
HP:0011277	Abnormality of the urinary system physiology	23474	ETHE1	ORPHA:51188
HP:0011277	Abnormality of the urinary system physiology	23474	ETHE1	OMIM:602473
HP:0011277	Abnormality of the urinary system physiology	3329	HSPD1	OMIM:612233
HP:0011277	Abnormality of the urinary system physiology	51241	COX16	OMIM:619355
HP:0011277	Abnormality of the urinary system physiology	2108	ETFA	OMIM:231680
HP:0011277	Abnormality of the urinary system physiology	2109	ETFB	OMIM:231680
HP:0011277	Abnormality of the urinary system physiology	2110	ETFDH	OMIM:231680
HP:0011277	Abnormality of the urinary system physiology	8802	SUCLG1	ORPHA:17
HP:0011277	Abnormality of the urinary system physiology	35	ACADS	OMIM:201470
HP:0011277	Abnormality of the urinary system physiology	35	ACADS	ORPHA:26792
HP:0011277	Abnormality of the urinary system physiology	3000	GUCY2D	OMIM:204000
HP:0011277	Abnormality of the urinary system physiology	133686	NADK2	OMIM:616034
HP:0011277	Abnormality of the urinary system physiology	10157	AASS	ORPHA:2203
HP:0011277	Abnormality of the urinary system physiology	10157	AASS	OMIM:238700
HP:0011277	Abnormality of the urinary system physiology	10157	AASS	ORPHA:3124
HP:0011277	Abnormality of the urinary system physiology	80207	OPA3	OMIM:258501
HP:0011277	Abnormality of the urinary system physiology	131118	DNAJC19	OMIM:610198
HP:0011277	Abnormality of the urinary system physiology	27429	HTRA2	OMIM:617248
HP:0011277	Abnormality of the urinary system physiology	92609	TIMM50	OMIM:617698
HP:0011277	Abnormality of the urinary system physiology	3155	HMGCL	ORPHA:20
HP:0011277	Abnormality of the urinary system physiology	3155	HMGCL	OMIM:246450
HP:0011277	Abnormality of the urinary system physiology	6530	SLC6A2	OMIM:604715
HP:0011277	Abnormality of the urinary system physiology	435	ASL	ORPHA:23
HP:0011277	Abnormality of the urinary system physiology	435	ASL	OMIM:207900
HP:0011277	Abnormality of the urinary system physiology	1497	CTNS	OMIM:219800
HP:0011277	Abnormality of the urinary system physiology	1497	CTNS	ORPHA:411629
HP:0011277	Abnormality of the urinary system physiology	1497	CTNS	ORPHA:411634
HP:0011277	Abnormality of the urinary system physiology	6505	SLC1A1	OMIM:222730
HP:0011277	Abnormality of the urinary system physiology	4952	OCRL	OMIM:300555
HP:0011277	Abnormality of the urinary system physiology	4952	OCRL	OMIM:309000
HP:0011277	Abnormality of the urinary system physiology	4952	OCRL	ORPHA:534
HP:0011277	Abnormality of the urinary system physiology	51095	TRNT1	OMIM:616084
HP:0011277	Abnormality of the urinary system physiology	4574	MT-TS1	OMIM:220110
HP:0011277	Abnormality of the urinary system physiology	4570	MT-TN	OMIM:220110
HP:0011277	Abnormality of the urinary system physiology	6834	SURF1	OMIM:220110
HP:0011277	Abnormality of the urinary system physiology	54914	FOCAD	OMIM:619991
HP:0011277	Abnormality of the urinary system physiology	2592	GALT	OMIM:230400
HP:0011277	Abnormality of the urinary system physiology	84334	COA8	ORPHA:436271
HP:0011277	Abnormality of the urinary system physiology	10667	FARS2	OMIM:614946
HP:0011277	Abnormality of the urinary system physiology	1184	CLCN5	OMIM:308990
HP:0011277	Abnormality of the urinary system physiology	1184	CLCN5	OMIM:300009
HP:0011277	Abnormality of the urinary system physiology	5830	PEX5	OMIM:214110
HP:0011277	Abnormality of the urinary system physiology	1373	CPS1	ORPHA:147
HP:0011277	Abnormality of the urinary system physiology	5009	OTC	ORPHA:664
HP:0011277	Abnormality of the urinary system physiology	7372	UMPS	ORPHA:30
HP:0011277	Abnormality of the urinary system physiology	617	BCS1L	OMIM:603358
HP:0011277	Abnormality of the urinary system physiology	617	BCS1L	OMIM:124000
HP:0011277	Abnormality of the urinary system physiology	4141	MARS1	OMIM:615486
HP:0011277	Abnormality of the urinary system physiology	2628	GATM	OMIM:134600
HP:0011277	Abnormality of the urinary system physiology	137682	NDUFAF6	OMIM:618913
HP:0011277	Abnormality of the urinary system physiology	55503	TRPV6	ORPHA:417
HP:0011277	Abnormality of the urinary system physiology	846	CASR	ORPHA:417
HP:0011277	Abnormality of the urinary system physiology	846	CASR	OMIM:239200
HP:0011277	Abnormality of the urinary system physiology	2729	GCLC	ORPHA:33574
HP:0011277	Abnormality of the urinary system physiology	4758	NEU1	ORPHA:812
HP:0011277	Abnormality of the urinary system physiology	1962	EHHADH	OMIM:615605
HP:0011277	Abnormality of the urinary system physiology	540	ATP7B	OMIM:277900
HP:0011277	Abnormality of the urinary system physiology	5189	PEX1	OMIM:214100
HP:0011277	Abnormality of the urinary system physiology	4942	OAT	ORPHA:414
HP:0011277	Abnormality of the urinary system physiology	2271	FH	OMIM:606812
HP:0011277	Abnormality of the urinary system physiology	10559	SLC35A1	OMIM:603585
HP:0011277	Abnormality of the urinary system physiology	100131801	PET100	OMIM:619055
HP:0011277	Abnormality of the urinary system physiology	10841	FTCD	OMIM:229100
HP:0011277	Abnormality of the urinary system physiology	10560	SLC19A2	OMIM:249270
HP:0011277	Abnormality of the urinary system physiology	7084	TK2	OMIM:609560
HP:0011277	Abnormality of the urinary system physiology	3172	HNF4A	OMIM:616026
HP:0011277	Abnormality of the urinary system physiology	50628	GEMIN4	OMIM:617913
HP:0011277	Abnormality of the urinary system physiology	8942	KYNU	OMIM:236800
HP:0011277	Abnormality of the urinary system physiology	4668	NAGA	OMIM:609242
HP:0011277	Abnormality of the urinary system physiology	91647	ATPAF2	OMIM:604273
HP:0011277	Abnormality of the urinary system physiology	3081	HGD	ORPHA:56
HP:0011277	Abnormality of the urinary system physiology	9056	SLC7A7	OMIM:222700
HP:0011277	Abnormality of the urinary system physiology	26276	VPS33B	OMIM:208085
HP:0011277	Abnormality of the urinary system physiology	8803	SUCLA2	OMIM:612073
HP:0011277	Abnormality of the urinary system physiology	8803	SUCLA2	ORPHA:1933
HP:0011277	Abnormality of the urinary system physiology	132158	GLYCTK	OMIM:220120
HP:0011277	Abnormality of the urinary system physiology	9054	NFS1	OMIM:619386
HP:0011277	Abnormality of the urinary system physiology	50484	RRM2B	OMIM:612075
HP:0011277	Abnormality of the urinary system physiology	63894	VIPAS39	OMIM:613404
HP:0011277	Abnormality of the urinary system physiology	26275	HIBCH	OMIM:250620
HP:0011277	Abnormality of the urinary system physiology	2068	ERCC2	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	7507	XPA	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	2071	ERCC3	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	7508	XPC	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	1643	DDB2	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	2072	ERCC4	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	2073	ERCC5	ORPHA:910
HP:0011277	Abnormality of the urinary system physiology	2582	GALE	OMIM:230350
HP:0011277	Abnormality of the urinary system physiology	11005	SPINK5	ORPHA:634
HP:0011277	Abnormality of the urinary system physiology	4337	MOCS1	OMIM:252150
HP:0011277	Abnormality of the urinary system physiology	6821	SUOX	OMIM:272300
HP:0011277	Abnormality of the urinary system physiology	6999	TDO2	OMIM:600627
HP:0011277	Abnormality of the urinary system physiology	5144	PDE4D	ORPHA:280651
HP:0011277	Abnormality of the urinary system physiology	149775	GNAS-AS1	OMIM:603233
HP:0011277	Abnormality of the urinary system physiology	8675	STX16	OMIM:603233
HP:0011277	Abnormality of the urinary system physiology	8675	STX16	ORPHA:94089
HP:0011277	Abnormality of the urinary system physiology	513	ATP5F1D	OMIM:618120
HP:0011277	Abnormality of the urinary system physiology	125988	MICOS13	OMIM:618329
HP:0011277	Abnormality of the urinary system physiology	125988	MICOS13	ORPHA:67047
HP:0011277	Abnormality of the urinary system physiology	3954	LETM1	OMIM:620089
HP:0011277	Abnormality of the urinary system physiology	549	AUH	OMIM:250950
HP:0011277	Abnormality of the urinary system physiology	549	AUH	ORPHA:67046
HP:0011277	Abnormality of the urinary system physiology	55750	AGK	OMIM:212350
HP:0011277	Abnormality of the urinary system physiology	55210	ATAD3A	ORPHA:496790
HP:0011277	Abnormality of the urinary system physiology	112812	FDX2	OMIM:251900
HP:0011277	Abnormality of the urinary system physiology	54968	TMEM70	OMIM:614052
HP:0011277	Abnormality of the urinary system physiology	54968	TMEM70	ORPHA:1194
HP:0011277	Abnormality of the urinary system physiology	514	ATP5F1E	OMIM:614053
HP:0011277	Abnormality of the urinary system physiology	6901	TAFAZZIN	OMIM:302060
HP:0011277	Abnormality of the urinary system physiology	84947	SERAC1	OMIM:614739
HP:0011277	Abnormality of the urinary system physiology	2990	GUSB	OMIM:253220
HP:0011277	Abnormality of the urinary system physiology	3425	IDUA	OMIM:607014
HP:0011277	Abnormality of the urinary system physiology	3423	IDS	OMIM:309900
HP:0011277	Abnormality of the urinary system physiology	2328	FMO3	OMIM:602079
HP:0011277	Abnormality of the urinary system physiology	2328	FMO3	ORPHA:468726
HP:0011277	Abnormality of the urinary system physiology	8573	CASK	OMIM:300908
HP:0011277	Abnormality of the urinary system physiology	2539	G6PD	OMIM:300908
HP:0011277	Abnormality of the urinary system physiology	51251	NT5C3A	OMIM:266120
HP:0011277	Abnormality of the urinary system physiology	9780	PIEZO1	OMIM:194380
HP:0011277	Abnormality of the urinary system physiology	100303755	PET117	OMIM:619063
HP:0011277	Abnormality of the urinary system physiology	4536	MT-ND2	ORPHA:255210
HP:0011277	Abnormality of the urinary system physiology	4537	MT-ND3	ORPHA:255210
HP:0011277	Abnormality of the urinary system physiology	4577	MT-TV	ORPHA:255210
HP:0011277	Abnormality of the urinary system physiology	4508	MT-ATP6	ORPHA:255210
HP:0011277	Abnormality of the urinary system physiology	4716	NDUFB10	OMIM:619003
HP:0011277	Abnormality of the urinary system physiology	197257	LDHD	OMIM:245450
HP:0011277	Abnormality of the urinary system physiology	4704	NDUFA9	OMIM:618247
HP:0011277	Abnormality of the urinary system physiology	57128	LYRM4	OMIM:615595
HP:0011277	Abnormality of the urinary system physiology	4724	NDUFS4	OMIM:252010
HP:0011277	Abnormality of the urinary system physiology	763	CA5A	OMIM:615751
HP:0011277	Abnormality of the urinary system physiology	89874	SLC25A21	OMIM:618811
HP:0011277	Abnormality of the urinary system physiology	54704	PDP1	ORPHA:79246
HP:0011277	Abnormality of the urinary system physiology	261734	NPHP4	OMIM:606996
HP:0011277	Abnormality of the urinary system physiology	261734	NPHP4	OMIM:606966
HP:0011277	Abnormality of the urinary system physiology	261734	NPHP4	ORPHA:3156
HP:0011277	Abnormality of the urinary system physiology	9722	NOS1AP	OMIM:619155
HP:0011277	Abnormality of the urinary system physiology	54585	LZTFL1	OMIM:615994
HP:0011277	Abnormality of the urinary system physiology	10677	AVIL	OMIM:618594
HP:0011277	Abnormality of the urinary system physiology	10847	SRCAP	ORPHA:2044
HP:0011277	Abnormality of the urinary system physiology	84520	GON7	OMIM:619603
HP:0011277	Abnormality of the urinary system physiology	51473	DCDC2	OMIM:616217
HP:0011277	Abnormality of the urinary system physiology	51473	DCDC2	ORPHA:84081
HP:0011277	Abnormality of the urinary system physiology	977	CD151	OMIM:609057
HP:0011277	Abnormality of the urinary system physiology	3911	LAMA5	OMIM:620049
HP:0011277	Abnormality of the urinary system physiology	26146	TRAF3IP1	OMIM:616629
HP:0011277	Abnormality of the urinary system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0011277	Abnormality of the urinary system physiology	55764	IFT122	OMIM:218330
HP:0011277	Abnormality of the urinary system physiology	25778	DSTYK	OMIM:610805
HP:0011277	Abnormality of the urinary system physiology	54806	AHI1	OMIM:608629
HP:0011277	Abnormality of the urinary system physiology	55863	TMEM126B	OMIM:618250
HP:0011277	Abnormality of the urinary system physiology	4582	MUC1	OMIM:174000
HP:0011277	Abnormality of the urinary system physiology	27130	INVS	OMIM:602088
HP:0011277	Abnormality of the urinary system physiology	27130	INVS	ORPHA:3156
HP:0011277	Abnormality of the urinary system physiology	10269	ZMPSTE24	OMIM:608612
HP:0011277	Abnormality of the urinary system physiology	182	JAG1	OMIM:118450
HP:0011277	Abnormality of the urinary system physiology	284086	NEK8	OMIM:613824
HP:0011277	Abnormality of the urinary system physiology	93649	MYOCD	OMIM:618719
HP:0011277	Abnormality of the urinary system physiology	9657	IQCB1	OMIM:609254
HP:0011277	Abnormality of the urinary system physiology	9657	IQCB1	ORPHA:3156
HP:0011277	Abnormality of the urinary system physiology	63929	XPNPEP3	OMIM:613159
HP:0011277	Abnormality of the urinary system physiology	84662	GLIS2	OMIM:611498
HP:0011277	Abnormality of the urinary system physiology	64127	NOD2	ORPHA:90340
HP:0011277	Abnormality of the urinary system physiology	112752	IFT43	OMIM:614099
HP:0011277	Abnormality of the urinary system physiology	51134	CEP83	OMIM:615862
HP:0011277	Abnormality of the urinary system physiology	22897	CEP164	ORPHA:3156
HP:0011277	Abnormality of the urinary system physiology	966	CD59	OMIM:612300
HP:0011277	Abnormality of the urinary system physiology	476	ATP1A1	OMIM:618314
HP:0011277	Abnormality of the urinary system physiology	476	ATP1A1	ORPHA:564178
HP:0011277	Abnormality of the urinary system physiology	2591	GALNT3	OMIM:211900
HP:0011277	Abnormality of the urinary system physiology	55858	TMEM165	OMIM:614727
HP:0011277	Abnormality of the urinary system physiology	3078	CFHR1	OMIM:235400
HP:0011277	Abnormality of the urinary system physiology	10878	CFHR3	OMIM:235400
HP:0011277	Abnormality of the urinary system physiology	285362	SUMF1	ORPHA:585
HP:0011277	Abnormality of the urinary system physiology	285362	SUMF1	OMIM:272200
HP:0011277	Abnormality of the urinary system physiology	84572	GNPTG	OMIM:252605
HP:0011277	Abnormality of the urinary system physiology	59341	TRPV4	OMIM:184095
HP:0011277	Abnormality of the urinary system physiology	79158	GNPTAB	OMIM:252600
HP:0011277	Abnormality of the urinary system physiology	79158	GNPTAB	OMIM:252500
HP:0011277	Abnormality of the urinary system physiology	153642	ARSK	OMIM:619698
HP:0011277	Abnormality of the urinary system physiology	411	ARSB	OMIM:253200
HP:0011277	Abnormality of the urinary system physiology	5213	PFKM	OMIM:232800
HP:0011277	Abnormality of the urinary system physiology	729920	CRPPA	ORPHA:352479
HP:0011277	Abnormality of the urinary system physiology	5255	PHKA1	OMIM:300559
HP:0011277	Abnormality of the urinary system physiology	79147	FKRP	OMIM:607155
HP:0011277	Abnormality of the urinary system physiology	1314	COPA	OMIM:616414
HP:0011277	Abnormality of the urinary system physiology	7355	SLC35A2	ORPHA:356961
HP:0011277	Abnormality of the urinary system physiology	2548	GAA	ORPHA:308552
HP:0011277	Abnormality of the urinary system physiology	57231	SNX14	OMIM:616354
HP:0011277	Abnormality of the urinary system physiology	57231	SNX14	ORPHA:397709
HP:0011277	Abnormality of the urinary system physiology	1757	SARDH	ORPHA:3129
HP:0011277	Abnormality of the urinary system physiology	7498	XDH	OMIM:278300
HP:0011277	Abnormality of the urinary system physiology	4338	MOCS2	OMIM:252160
HP:0011277	Abnormality of the urinary system physiology	4860	PNP	ORPHA:760
HP:0011277	Abnormality of the urinary system physiology	595	CCND1	ORPHA:892
HP:0011277	Abnormality of the urinary system physiology	7153	TOP2A	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	238	ALK	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	389421	LIN28B	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	4004	LMO1	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	57531	HACE1	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	8929	PHOX2B	ORPHA:635
HP:0011277	Abnormality of the urinary system physiology	6571	SLC18A2	OMIM:618049
HP:0011277	Abnormality of the urinary system physiology	1621	DBH	ORPHA:230
HP:0011277	Abnormality of the urinary system physiology	2584	GALK1	OMIM:230200
HP:0011277	Abnormality of the urinary system physiology	9652	SKIC3	OMIM:222470
HP:0011277	Abnormality of the urinary system physiology	4126	MANBA	OMIM:248510
HP:0011277	Abnormality of the urinary system physiology	2517	FUCA1	OMIM:230000
HP:0011277	Abnormality of the urinary system physiology	175	AGA	OMIM:208400
HP:0011277	Abnormality of the urinary system physiology	175	AGA	ORPHA:93
HP:0011277	Abnormality of the urinary system physiology	1280	COL2A1	ORPHA:485
HP:0011277	Abnormality of the urinary system physiology	2720	GLB1	OMIM:253010
HP:0011277	Abnormality of the urinary system physiology	2588	GALNS	OMIM:253000
HP:0011277	Abnormality of the urinary system physiology	55768	NGLY1	OMIM:615273
HP:0011277	Abnormality of the urinary system physiology	5428	POLG	OMIM:203700
HP:0011277	Abnormality of the urinary system physiology	51116	MRPS2	OMIM:617950
HP:0011277	Abnormality of the urinary system physiology	57393	CLTRN	ORPHA:2116
HP:0011277	Abnormality of the urinary system physiology	1244	ABCC2	ORPHA:234
HP:0011277	Abnormality of the urinary system physiology	1756	DMD	ORPHA:98895
HP:0011277	Abnormality of the urinary system physiology	119559	SFXN4	OMIM:615578
HP:0011277	Abnormality of the urinary system physiology	23417	MLYCD	OMIM:248360
HP:0011277	Abnormality of the urinary system physiology	4329	ALDH6A1	OMIM:614105
HP:0011277	Abnormality of the urinary system physiology	6948	TCN2	OMIM:275350
HP:0011277	Abnormality of the urinary system physiology	6948	TCN2	ORPHA:859
HP:0011277	Abnormality of the urinary system physiology	84693	MCEE	OMIM:251120
HP:0011277	Abnormality of the urinary system physiology	166785	MMAA	OMIM:251100
HP:0011277	Abnormality of the urinary system physiology	51293	CD320	OMIM:613646
HP:0011277	Abnormality of the urinary system physiology	326625	MMAB	OMIM:251110
HP:0011277	Abnormality of the urinary system physiology	1806	DPYD	OMIM:274270
HP:0011277	Abnormality of the urinary system physiology	1806	DPYD	ORPHA:1675
HP:0011277	Abnormality of the urinary system physiology	1807	DPYS	OMIM:222748
HP:0011277	Abnormality of the urinary system physiology	5551	PRF1	ORPHA:540
HP:0011277	Abnormality of the urinary system physiology	8676	STX11	ORPHA:540
HP:0011277	Abnormality of the urinary system physiology	201294	UNC13D	ORPHA:540
HP:0011277	Abnormality of the urinary system physiology	6813	STXBP2	ORPHA:540
HP:0011277	Abnormality of the urinary system physiology	1019	CDK4	ORPHA:99971
HP:0011277	Abnormality of the urinary system physiology	8091	HMGA2	ORPHA:99971
HP:0011277	Abnormality of the urinary system physiology	7276	TTR	ORPHA:85447
HP:0011277	Abnormality of the urinary system physiology	6809	STX3	ORPHA:2290
HP:0011277	Abnormality of the urinary system physiology	4645	MYO5B	ORPHA:2290
HP:0011277	Abnormality of the urinary system physiology	1534	CYB561	OMIM:618182
HP:0011277	Abnormality of the urinary system physiology	131669	UROC1	OMIM:276880
HP:0011277	Abnormality of the urinary system physiology	131669	UROC1	ORPHA:210128
HP:0011277	Abnormality of the urinary system physiology	3418	IDH2	OMIM:613657
HP:0011277	Abnormality of the urinary system physiology	3417	IDH1	ORPHA:99646
HP:0011277	Abnormality of the urinary system physiology	5832	ALDH18A1	ORPHA:90348
HP:0011277	Abnormality of the urinary system physiology	866	SERPINA6	OMIM:611489
HP:0011277	Abnormality of the urinary system physiology	100134444	KCNJ18	ORPHA:79102
HP:0011277	Abnormality of the urinary system physiology	2556	GABRA3	ORPHA:79102
HP:0011277	Abnormality of the urinary system physiology	779	CACNA1S	ORPHA:79102
HP:0011277	Abnormality of the urinary system physiology	4967	OGDH	ORPHA:31
HP:0011277	Abnormality of the urinary system physiology	9488	PIGB	OMIM:618580
HP:0011277	Abnormality of the urinary system physiology	2746	GLUD1	ORPHA:35878
HP:0011277	Abnormality of the urinary system physiology	57465	TBC1D24	OMIM:220500
HP:0011277	Abnormality of the urinary system physiology	57465	TBC1D24	ORPHA:79500
HP:0011277	Abnormality of the urinary system physiology	27010	TPK1	OMIM:614458
HP:0011277	Abnormality of the urinary system physiology	1738	DLD	ORPHA:2394
HP:0011277	Abnormality of the urinary system physiology	526	ATP6V1B2	ORPHA:79500
HP:0011277	Abnormality of the urinary system physiology	9493	KIF23	OMIM:105600
HP:0011277	Abnormality of the urinary system physiology	3716	JAK1	OMIM:618999
HP:0011277	Abnormality of the urinary system physiology	2157	F8	ORPHA:169802
HP:0011277	Abnormality of the urinary system physiology	3674	ITGA2B	ORPHA:849
HP:0011277	Abnormality of the urinary system physiology	3690	ITGB3	ORPHA:849
HP:0011277	Abnormality of the urinary system physiology	2811	GP1BA	ORPHA:274
HP:0011277	Abnormality of the urinary system physiology	2812	GP1BB	ORPHA:274
HP:0011277	Abnormality of the urinary system physiology	2815	GP9	ORPHA:274
HP:0011277	Abnormality of the urinary system physiology	1650	DDOST	ORPHA:300536
HP:0011277	Abnormality of the urinary system physiology	375056	MIA3	OMIM:619269
HP:0011277	Abnormality of the urinary system physiology	51124	IER3IP1	OMIM:614231
HP:0011277	Abnormality of the urinary system physiology	55610	VPS50	OMIM:619685
HP:0011277	Abnormality of the urinary system physiology	1583	CYP11A1	ORPHA:289548
HP:0011277	Abnormality of the urinary system physiology	1583	CYP11A1	ORPHA:168558
HP:0011277	Abnormality of the urinary system physiology	56246	MRAP	ORPHA:361
HP:0011277	Abnormality of the urinary system physiology	6770	STAR	ORPHA:361
HP:0011277	Abnormality of the urinary system physiology	4158	MC2R	ORPHA:361
HP:0011277	Abnormality of the urinary system physiology	23530	NNT	ORPHA:361
HP:0011277	Abnormality of the urinary system physiology	10587	TXNRD2	ORPHA:361
HP:0011277	Abnormality of the urinary system physiology	1585	CYP11B2	ORPHA:556030
HP:0011277	Abnormality of the urinary system physiology	29927	SEC61A1	OMIM:617056
HP:0011277	Abnormality of the urinary system physiology	374879	ZNF699	OMIM:619488
HP:0011277	Abnormality of the urinary system physiology	3190	HNRNPK	OMIM:616580
HP:0011277	Abnormality of the urinary system physiology	4914	NTRK1	ORPHA:642
HP:0011277	Abnormality of the urinary system physiology	91461	PKDCC	OMIM:618821
HP:0011277	Abnormality of the urinary system physiology	1136	CHRNA3	OMIM:191800
HP:0011277	Abnormality of the urinary system physiology	6522	SLC4A2	OMIM:620366
HP:0011277	Abnormality of the urinary system physiology	5442	POLRMT	OMIM:619743
HP:0011277	Abnormality of the urinary system physiology	85358	SHANK3	ORPHA:48652
HP:0011277	Abnormality of the urinary system physiology	7381	UQCRB	OMIM:615158
HP:0011277	Abnormality of the urinary system physiology	51601	LIPT1	OMIM:616299
HP:0011277	Abnormality of the urinary system physiology	340533	NEXMIF	OMIM:300912
HP:0011277	Abnormality of the urinary system physiology	6521	SLC4A1	OMIM:179800
HP:0011277	Abnormality of the urinary system physiology	28234	SLCO1B3	ORPHA:3111
HP:0011277	Abnormality of the urinary system physiology	10599	SLCO1B1	ORPHA:3111
HP:0011277	Abnormality of the urinary system physiology	85007	PHYKPL	OMIM:615011
HP:0011277	Abnormality of the urinary system physiology	29958	DMGDH	OMIM:605850
HP:0011277	Abnormality of the urinary system physiology	3795	KHK	ORPHA:2056
HP:0011277	Abnormality of the urinary system physiology	644	BLVRA	OMIM:614156
HP:0011277	Abnormality of the urinary system physiology	4882	NPR2	OMIM:615923
HP:0011277	Abnormality of the urinary system physiology	443	ASPA	OMIM:271900
HP:0011277	Abnormality of the urinary system physiology	64902	AGXT2	OMIM:210100
HP:0011277	Abnormality of the urinary system physiology	200205	IBA57	OMIM:615330
HP:0011277	Abnormality of the urinary system physiology	9154	SLC28A1	OMIM:618477
HP:0011277	Abnormality of the urinary system physiology	4598	MVK	OMIM:260920
HP:0011277	Abnormality of the urinary system physiology	4598	MVK	OMIM:610377
HP:0011277	Abnormality of the urinary system physiology	6341	SCO1	OMIM:619048
HP:0011277	Abnormality of the urinary system physiology	6576	SLC25A1	OMIM:615182
HP:0011277	Abnormality of the urinary system physiology	64849	SLC13A3	OMIM:618384
HP:0011277	Abnormality of the urinary system physiology	5184	PEPD	OMIM:170100
HP:0011277	Abnormality of the urinary system physiology	36	ACADSB	OMIM:610006
HP:0011277	Abnormality of the urinary system physiology	5092	PCBD1	OMIM:264070
HP:0011277	Abnormality of the urinary system physiology	3141	HLCS	OMIM:253270
HP:0011277	Abnormality of the urinary system physiology	2213	FCGR2B	OMIM:152700
HP:0011277	Abnormality of the urinary system physiology	1773	DNASE1	OMIM:152700
HP:0011277	Abnormality of the urinary system physiology	54805	CNNM2	OMIM:613882
HP:0011277	Abnormality of the urinary system physiology	1147	CHUK	OMIM:613630
HP:0011277	Abnormality of the urinary system physiology	5351	PLOD1	OMIM:225400
HP:0011277	Abnormality of the urinary system physiology	6578	SLCO2A1	OMIM:167100
HP:0011277	Abnormality of the urinary system physiology	55526	DHTKD1	OMIM:204750
HP:0011277	Abnormality of the urinary system physiology	471	ATIC	OMIM:608688
HP:0011277	Abnormality of the urinary system physiology	2678	GGT1	OMIM:231950
HP:0011277	Abnormality of the urinary system physiology	79944	L2HGDH	OMIM:236792
HP:0011277	Abnormality of the urinary system physiology	10165	SLC25A13	ORPHA:247598
HP:0011277	Abnormality of the urinary system physiology	2203	FBP1	OMIM:229700
HP:0011277	Abnormality of the urinary system physiology	2203	FBP1	ORPHA:348
HP:0011277	Abnormality of the urinary system physiology	2710	GK	OMIM:307030
HP:0011277	Abnormality of the urinary system physiology	7390	UROS	OMIM:263700
HP:0011277	Abnormality of the urinary system physiology	7389	UROD	ORPHA:95159
HP:0011277	Abnormality of the urinary system physiology	286410	ATP11C	OMIM:301015
HP:0011277	Abnormality of the urinary system physiology	5837	PYGM	OMIM:232600
HP:0011277	Abnormality of the urinary system physiology	5837	PYGM	ORPHA:368
HP:0011277	Abnormality of the urinary system physiology	1371	CPOX	ORPHA:79273
HP:0011277	Abnormality of the urinary system physiology	6718	AKR1D1	ORPHA:79303
HP:0011277	Abnormality of the urinary system physiology	210	ALAD	ORPHA:100924
HP:0011277	Abnormality of the urinary system physiology	2623	GATA1	ORPHA:79277
HP:0011277	Abnormality of the urinary system physiology	183	AGT	OMIM:267430
HP:0011277	Abnormality of the urinary system physiology	185	AGTR1	OMIM:267430
HP:0011277	Abnormality of the urinary system physiology	1636	ACE	OMIM:267430
HP:0011277	Abnormality of the urinary system physiology	4629	MYH11	OMIM:619351
HP:0011277	Abnormality of the urinary system physiology	6261	RYR1	ORPHA:466650
HP:0011277	Abnormality of the urinary system physiology	55249	YY1AP1	OMIM:602531
HP:0011277	Abnormality of the urinary system physiology	1281	COL3A1	ORPHA:286
HP:0011277	Abnormality of the urinary system physiology	6772	STAT1	ORPHA:391487
HP:0011277	Abnormality of the urinary system physiology	10043	TOM1	ORPHA:391487
HP:0011277	Abnormality of the urinary system physiology	9896	FIG4	ORPHA:3472
HP:0011277	Abnormality of the urinary system physiology	55697	VAC14	ORPHA:3472
HP:0011277	Abnormality of the urinary system physiology	64131	XYLT1	OMIM:264800
HP:0011277	Abnormality of the urinary system physiology	64132	XYLT2	OMIM:264800
HP:0011277	Abnormality of the urinary system physiology	5053	PAH	OMIM:261600
HP:0011277	Abnormality of the urinary system physiology	1629	DBT	OMIM:248600
HP:0011277	Abnormality of the urinary system physiology	593	BCKDHA	OMIM:248600
HP:0011277	Abnormality of the urinary system physiology	594	BCKDHB	OMIM:248600
HP:0011277	Abnormality of the urinary system physiology	3553	IL1B	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	4595	MUTYH	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	3557	IL1RN	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	3659	IRF1	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	2064	ERBB2	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	5290	PIK3CA	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	1316	KLF6	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	324	APC	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	2263	FGFR2	OMIM:613659
HP:0011277	Abnormality of the urinary system physiology	3875	KRT18	OMIM:215600
HP:0011277	Abnormality of the urinary system physiology	6794	STK11	OMIM:260350
HP:0011277	Abnormality of the urinary system physiology	4089	SMAD4	OMIM:260350
HP:0011277	Abnormality of the urinary system physiology	7086	TKT	ORPHA:488618
HP:0011277	Abnormality of the urinary system physiology	22934	RPIA	OMIM:608611
HP:0011277	Abnormality of the urinary system physiology	2937	GSS	OMIM:266130
HP:0011277	Abnormality of the urinary system physiology	2937	GSS	OMIM:231900
HP:0011277	Abnormality of the urinary system physiology	10020	GNE	OMIM:269921
HP:0011277	Abnormality of the urinary system physiology	3028	HSD17B10	ORPHA:391457
HP:0011277	Abnormality of the urinary system physiology	3028	HSD17B10	ORPHA:391428
HP:0011277	Abnormality of the urinary system physiology	7915	ALDH5A1	OMIM:271980
HP:0011277	Abnormality of the urinary system physiology	8671	SLC4A4	OMIM:604278
HP:0011279	Abnormality of urine bicarbonate level	229	ALDOB	OMIM:229600
HP:0011279	Abnormality of urine bicarbonate level	4952	OCRL	OMIM:309000
HP:0011279	Abnormality of urine bicarbonate level	1962	EHHADH	ORPHA:3337
HP:0011279	Abnormality of urine bicarbonate level	2628	GATM	ORPHA:3337
HP:0011279	Abnormality of urine bicarbonate level	137682	NDUFAF6	ORPHA:3337
HP:0011279	Abnormality of urine bicarbonate level	6569	SLC34A1	ORPHA:3337
HP:0011274	Recurrent mycobacterial infections	25981	DNAH1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	115948	ODAD3	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	54768	HYDIN	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	352909	DNAAF3	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	27148	STK36	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	51314	NME8	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	92749	DRC1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	54970	TTC12	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	152110	NEK10	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	8481	OFD1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	2302	FOXJ1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	221421	RSPH9	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	85478	CCDC65	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	55036	CCDC40	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	51364	ZMYND10	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	64446	DNAI2	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	6674	SPAG1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	83544	DNAL1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	89765	RSPH1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	83538	ODAD4	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	200373	CFAP221	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	374407	DNAJB13	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	55172	DNAAF2	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	161582	DNAAF4	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	2622	GAS8	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	23639	DNAAF11	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	27019	DNAI1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	345895	RSPH4A	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	54919	DNAAF5	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	6103	RPGR	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	388389	CCDC103	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	93233	ODAD1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	55130	ODAD2	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	1767	DNAH5	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	83861	RSPH3	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	345643	MCIDAS	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	56683	CFAP298	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	79925	SPEF2	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	10309	CCNO	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	115399	LRRC56	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	139212	DNAAF6	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	123872	DNAAF1	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	85016	CFAP300	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	339829	CCDC39	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	8701	DNAH11	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	1770	DNAH9	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	246176	GAS2L2	ORPHA:244
HP:0011274	Recurrent mycobacterial infections	64421	DCLRE1C	ORPHA:275
HP:0011274	Recurrent mycobacterial infections	1536	CYBB	OMIM:300645
HP:0011274	Recurrent mycobacterial infections	3594	IL12RB1	OMIM:614891
HP:0011274	Recurrent mycobacterial infections	3594	IL12RB1	ORPHA:319552
HP:0011274	Recurrent mycobacterial infections	9636	ISG15	OMIM:616126
HP:0011274	Recurrent mycobacterial infections	7297	TYK2	OMIM:611521
HP:0011274	Recurrent mycobacterial infections	3460	IFNGR2	OMIM:614889
HP:0011274	Recurrent mycobacterial infections	7535	ZAP70	ORPHA:911
HP:0011274	Recurrent mycobacterial infections	3459	IFNGR1	OMIM:615978
HP:0011274	Recurrent mycobacterial infections	2624	GATA2	OMIM:614172
HP:0011274	Recurrent mycobacterial infections	6772	STAT1	OMIM:614892
HP:0008211	Parathyroid agenesis	6899	TBX1	OMIM:188400
HP:0008211	Parathyroid agenesis	9247	GCM2	ORPHA:2239
HP:0000863	Central diabetes insipidus	6469	SHH	OMIM:142945
HP:0000863	Central diabetes insipidus	6469	SHH	ORPHA:280195
HP:0000863	Central diabetes insipidus	7546	ZIC2	OMIM:609637
HP:0000863	Central diabetes insipidus	7546	ZIC2	ORPHA:280195
HP:0000863	Central diabetes insipidus	7466	WFS1	ORPHA:411590
HP:0000863	Central diabetes insipidus	28514	DLL1	ORPHA:280195
HP:0000863	Central diabetes insipidus	2253	FGF8	ORPHA:280195
HP:0000863	Central diabetes insipidus	6496	SIX3	ORPHA:280195
HP:0000863	Central diabetes insipidus	7050	TGIF1	ORPHA:280195
HP:0000863	Central diabetes insipidus	4838	NODAL	ORPHA:280195
HP:0000863	Central diabetes insipidus	6491	STIL	ORPHA:280195
HP:0000863	Central diabetes insipidus	2619	GAS1	ORPHA:280195
HP:0000863	Central diabetes insipidus	84976	DISP1	ORPHA:280195
HP:0000863	Central diabetes insipidus	2736	GLI2	ORPHA:280195
HP:0000863	Central diabetes insipidus	8928	FOXH1	ORPHA:280195
HP:0000863	Central diabetes insipidus	5727	PTCH1	ORPHA:280195
HP:0000863	Central diabetes insipidus	50937	CDON	ORPHA:280195
HP:0000863	Central diabetes insipidus	551	AVP	OMIM:125700
HP:0000863	Central diabetes insipidus	54675	CRLS1	OMIM:620167
HP:0000863	Central diabetes insipidus	8626	TP63	OMIM:604292
HP:0000863	Central diabetes insipidus	5456	POU3F4	ORPHA:1435
HP:0000863	Central diabetes insipidus	1499	CTNNB1	ORPHA:54595
HP:0000863	Central diabetes insipidus	673	BRAF	ORPHA:54595
HP:0008247	Euthyroid hyperthyroxinemia	64072	CDH23	ORPHA:91347
HP:0008247	Euthyroid hyperthyroxinemia	213	ALB	OMIM:615999
HP:0008247	Euthyroid hyperthyroxinemia	7276	TTR	OMIM:145680
HP:0008247	Euthyroid hyperthyroxinemia	7234	TRU-TCA1-1	OMIM:620198
HP:0008214	Decreased serum estradiol	254394	MCM9	OMIM:616185
HP:0008214	Decreased serum estradiol	402381	SOHLH1	OMIM:617690
HP:0008214	Decreased serum estradiol	79625	NDNF	OMIM:618841
HP:0008214	Decreased serum estradiol	2100	ESR2	OMIM:618187
HP:0008214	Decreased serum estradiol	2796	GNRH1	OMIM:614841
HP:0008214	Decreased serum estradiol	3814	KISS1	OMIM:614842
HP:0008214	Decreased serum estradiol	8314	BAP1	ORPHA:2495
HP:0008214	Decreased serum estradiol	4771	NF2	ORPHA:2495
HP:0008214	Decreased serum estradiol	6598	SMARCB1	ORPHA:2495
HP:0008214	Decreased serum estradiol	5155	PDGFB	ORPHA:2495
HP:0008214	Decreased serum estradiol	84231	TRAF7	ORPHA:2495
HP:0008214	Decreased serum estradiol	6608	SMO	ORPHA:2495
HP:0008214	Decreased serum estradiol	207	AKT1	ORPHA:2495
HP:0008214	Decreased serum estradiol	5290	PIK3CA	ORPHA:2495
HP:0008214	Decreased serum estradiol	7015	TERT	ORPHA:2495
HP:0008214	Decreased serum estradiol	51684	SUFU	ORPHA:2495
HP:0008214	Decreased serum estradiol	6605	SMARCE1	ORPHA:2495
HP:0008214	Decreased serum estradiol	646	BNC1	OMIM:618723
HP:0008214	Decreased serum estradiol	646	BNC1	ORPHA:243
HP:0008214	Decreased serum estradiol	125150	ZSWIM7	OMIM:619834
HP:0008214	Decreased serum estradiol	125150	ZSWIM7	ORPHA:243
HP:0008214	Decreased serum estradiol	80067	DCAF17	ORPHA:3464
HP:0008214	Decreased serum estradiol	7490	WT1	ORPHA:347
HP:0008214	Decreased serum estradiol	7490	WT1	ORPHA:251510
HP:0008214	Decreased serum estradiol	5447	POR	ORPHA:95699
HP:0008214	Decreased serum estradiol	29893	PSMC3IP	ORPHA:243
HP:0008214	Decreased serum estradiol	171568	POLR3H	ORPHA:243
HP:0008214	Decreased serum estradiol	2516	NR5A1	ORPHA:243
HP:0008214	Decreased serum estradiol	2516	NR5A1	ORPHA:251510
HP:0008214	Decreased serum estradiol	9210	BMP15	ORPHA:243
HP:0008214	Decreased serum estradiol	57122	NUP107	ORPHA:243
HP:0008214	Decreased serum estradiol	23514	SPIDR	ORPHA:243
HP:0008214	Decreased serum estradiol	23514	SPIDR	OMIM:619665
HP:0008214	Decreased serum estradiol	2492	FSHR	ORPHA:243
HP:0008214	Decreased serum estradiol	56945	MRPS22	ORPHA:243
HP:0008214	Decreased serum estradiol	56945	MRPS22	OMIM:618117
HP:0008214	Decreased serum estradiol	9150	CTDP1	OMIM:604168
HP:0008214	Decreased serum estradiol	7516	XRCC2	OMIM:619146
HP:0008214	Decreased serum estradiol	2488	FSHB	ORPHA:52901
HP:0008214	Decreased serum estradiol	2661	GDF9	OMIM:618014
HP:0008214	Decreased serum estradiol	389549	FEZF1	OMIM:616030
HP:0008214	Decreased serum estradiol	1528	CYB5A	ORPHA:90796
HP:0008214	Decreased serum estradiol	1586	CYP17A1	ORPHA:90796
HP:0008214	Decreased serum estradiol	23395	LARS2	OMIM:615300
HP:0008214	Decreased serum estradiol	3953	LEPR	ORPHA:179494
HP:0008214	Decreased serum estradiol	6662	SOX9	ORPHA:251510
HP:0008214	Decreased serum estradiol	6845	VAMP7	ORPHA:251510
HP:0008214	Decreased serum estradiol	51741	WWOX	ORPHA:251510
HP:0008214	Decreased serum estradiol	4214	MAP3K1	ORPHA:251510
HP:0008214	Decreased serum estradiol	58524	DMRT3	ORPHA:251510
HP:0008214	Decreased serum estradiol	57647	DHX37	ORPHA:251510
HP:0008214	Decreased serum estradiol	6736	SRY	ORPHA:251510
HP:0008214	Decreased serum estradiol	23414	ZFPM2	ORPHA:251510
HP:0008214	Decreased serum estradiol	190	NR0B1	ORPHA:251510
HP:0008214	Decreased serum estradiol	2626	GATA4	ORPHA:251510
HP:0008214	Decreased serum estradiol	3952	LEP	ORPHA:66628
HP:0008214	Decreased serum estradiol	10371	SEMA3A	OMIM:614897
HP:0008214	Decreased serum estradiol	10734	STAG3	OMIM:615723
HP:0008214	Decreased serum estradiol	668	FOXL2	ORPHA:572333
HP:0008214	Decreased serum estradiol	50846	DHH	ORPHA:168563
HP:0008221	Adrenal hyperplasia	1589	CYP21A2	OMIM:201910
HP:0008221	Adrenal hyperplasia	8622	PDE8B	OMIM:614190
HP:0008221	Adrenal hyperplasia	8622	PDE8B	ORPHA:189439
HP:0008221	Adrenal hyperplasia	3284	HSD3B2	OMIM:201810
HP:0008221	Adrenal hyperplasia	84196	USP48	ORPHA:96253
HP:0008221	Adrenal hyperplasia	7157	TP53	ORPHA:96253
HP:0008221	Adrenal hyperplasia	9101	USP8	ORPHA:96253
HP:0008221	Adrenal hyperplasia	64072	CDH23	ORPHA:96253
HP:0008221	Adrenal hyperplasia	2908	NR3C1	ORPHA:96253
HP:0008221	Adrenal hyperplasia	2908	NR3C1	ORPHA:786
HP:0008221	Adrenal hyperplasia	673	BRAF	ORPHA:96253
HP:0008221	Adrenal hyperplasia	546	ATRX	ORPHA:96253
HP:0008221	Adrenal hyperplasia	776	CACNA1D	ORPHA:369929
HP:0008221	Adrenal hyperplasia	1586	CYP17A1	OMIM:202110
HP:0008221	Adrenal hyperplasia	5566	PRKACA	OMIM:615830
HP:0008221	Adrenal hyperplasia	5566	PRKACA	ORPHA:189439
HP:0008221	Adrenal hyperplasia	5573	PRKAR1A	ORPHA:189439
HP:0008221	Adrenal hyperplasia	50940	PDE11A	ORPHA:189439
HP:0008221	Adrenal hyperplasia	3762	KCNJ5	OMIM:613677
HP:0008221	Adrenal hyperplasia	3762	KCNJ5	ORPHA:251274
HP:0008221	Adrenal hyperplasia	1584	CYP11B1	OMIM:103900
HP:0008221	Adrenal hyperplasia	1584	CYP11B1	ORPHA:403
HP:0008221	Adrenal hyperplasia	326	AIRE	ORPHA:3453
HP:0008221	Adrenal hyperplasia	526	ATP6V1B2	ORPHA:79500
HP:0008221	Adrenal hyperplasia	57465	TBC1D24	ORPHA:79500
HP:0008221	Adrenal hyperplasia	1181	CLCN2	ORPHA:404
HP:0008221	Adrenal hyperplasia	1585	CYP11B2	ORPHA:403
HP:0008221	Adrenal hyperplasia	5447	POR	ORPHA:95699
HP:0008221	Adrenal hyperplasia	79798	ARMC5	ORPHA:189427
HP:0008221	Adrenal hyperplasia	79798	ARMC5	OMIM:615954
HP:0008221	Adrenal hyperplasia	2778	GNAS	ORPHA:189427
HP:0008221	Adrenal hyperplasia	2778	GNAS	OMIM:219080
HP:0008221	Adrenal hyperplasia	6770	STAR	OMIM:201710
HP:0008222	Female infertility	668	FOXL2	OMIM:110100
HP:0008222	Female infertility	668	FOXL2	ORPHA:572333
HP:0008222	Female infertility	347688	TUBB8	OMIM:616780
HP:0008222	Female infertility	347688	TUBB8	ORPHA:488191
HP:0008222	Female infertility	286151	FBXO43	OMIM:619697
HP:0008222	Female infertility	283677	REC114	OMIM:619176
HP:0008222	Female infertility	9319	TRIP13	OMIM:619011
HP:0008222	Female infertility	7784	ZP3	OMIM:617712
HP:0008222	Female infertility	5618	PRLR	OMIM:615555
HP:0008222	Female infertility	29893	PSMC3IP	OMIM:614324
HP:0008222	Female infertility	9453	GGPS1	OMIM:619518
HP:0008222	Female infertility	494551	WEE2	OMIM:617996
HP:0008222	Female infertility	494551	WEE2	ORPHA:488191
HP:0008222	Female infertility	25981	DNAH1	OMIM:617577
HP:0008222	Female infertility	25981	DNAH1	ORPHA:244
HP:0008222	Female infertility	22917	ZP1	OMIM:615774
HP:0008222	Female infertility	4438	MSH4	OMIM:619938
HP:0008222	Female infertility	115948	ODAD3	ORPHA:244
HP:0008222	Female infertility	54768	HYDIN	ORPHA:244
HP:0008222	Female infertility	352909	DNAAF3	ORPHA:244
HP:0008222	Female infertility	27148	STK36	ORPHA:244
HP:0008222	Female infertility	51314	NME8	ORPHA:244
HP:0008222	Female infertility	92749	DRC1	ORPHA:244
HP:0008222	Female infertility	54970	TTC12	ORPHA:244
HP:0008222	Female infertility	152110	NEK10	ORPHA:244
HP:0008222	Female infertility	8481	OFD1	ORPHA:244
HP:0008222	Female infertility	2302	FOXJ1	ORPHA:244
HP:0008222	Female infertility	221421	RSPH9	ORPHA:244
HP:0008222	Female infertility	85478	CCDC65	ORPHA:244
HP:0008222	Female infertility	55036	CCDC40	ORPHA:244
HP:0008222	Female infertility	51364	ZMYND10	ORPHA:244
HP:0008222	Female infertility	64446	DNAI2	ORPHA:244
HP:0008222	Female infertility	6674	SPAG1	ORPHA:244
HP:0008222	Female infertility	83544	DNAL1	ORPHA:244
HP:0008222	Female infertility	89765	RSPH1	ORPHA:244
HP:0008222	Female infertility	83538	ODAD4	ORPHA:244
HP:0008222	Female infertility	200373	CFAP221	ORPHA:244
HP:0008222	Female infertility	374407	DNAJB13	ORPHA:244
HP:0008222	Female infertility	55172	DNAAF2	ORPHA:244
HP:0008222	Female infertility	161582	DNAAF4	ORPHA:244
HP:0008222	Female infertility	2622	GAS8	ORPHA:244
HP:0008222	Female infertility	23639	DNAAF11	ORPHA:244
HP:0008222	Female infertility	27019	DNAI1	ORPHA:244
HP:0008222	Female infertility	345895	RSPH4A	ORPHA:244
HP:0008222	Female infertility	54919	DNAAF5	ORPHA:244
HP:0008222	Female infertility	6103	RPGR	ORPHA:244
HP:0008222	Female infertility	388389	CCDC103	ORPHA:244
HP:0008222	Female infertility	93233	ODAD1	ORPHA:244
HP:0008222	Female infertility	55130	ODAD2	ORPHA:244
HP:0008222	Female infertility	1767	DNAH5	ORPHA:244
HP:0008222	Female infertility	83861	RSPH3	ORPHA:244
HP:0008222	Female infertility	345643	MCIDAS	ORPHA:244
HP:0008222	Female infertility	56683	CFAP298	ORPHA:244
HP:0008222	Female infertility	79925	SPEF2	ORPHA:244
HP:0008222	Female infertility	10309	CCNO	ORPHA:244
HP:0008222	Female infertility	115399	LRRC56	ORPHA:244
HP:0008222	Female infertility	139212	DNAAF6	ORPHA:244
HP:0008222	Female infertility	123872	DNAAF1	ORPHA:244
HP:0008222	Female infertility	85016	CFAP300	ORPHA:244
HP:0008222	Female infertility	339829	CCDC39	ORPHA:244
HP:0008222	Female infertility	8701	DNAH11	ORPHA:244
HP:0008222	Female infertility	1770	DNAH9	ORPHA:244
HP:0008222	Female infertility	246176	GAS2L2	ORPHA:244
HP:0008222	Female infertility	11077	HSF2BP	OMIM:619245
HP:0008222	Female infertility	150365	MEI1	OMIM:618431
HP:0008222	Female infertility	79703	TOP6BL	OMIM:618432
HP:0008222	Female infertility	431705	ASTL	OMIM:619643
HP:0008222	Female infertility	79983	POF1B	OMIM:300604
HP:0008222	Female infertility	4439	MSH5	OMIM:617442
HP:0008222	Female infertility	24145	PANX1	OMIM:618550
HP:0008222	Female infertility	24145	PANX1	ORPHA:488191
HP:0008222	Female infertility	197135	PATL2	ORPHA:488191
HP:0008222	Female infertility	197135	PATL2	OMIM:617743
HP:0008222	Female infertility	7783	ZP2	OMIM:618353
HP:0008222	Female infertility	344018	FIGLA	OMIM:612310
HP:0008222	Female infertility	79816	TLE6	OMIM:616814
HP:0008222	Female infertility	54766	BTG4	OMIM:619009
HP:0008222	Female infertility	5241	PGR	OMIM:264080
HP:0008222	Female infertility	678	ZFP36L2	OMIM:620154
HP:0008222	Female infertility	1588	CYP19A1	ORPHA:91
HP:0008223	Compensated hypothyroidism	7068	THRB	OMIM:274300
HP:0008223	Compensated hypothyroidism	11277	TREX1	ORPHA:247691
HP:0008223	Compensated hypothyroidism	7080	NKX2-1	ORPHA:209905
HP:0008223	Compensated hypothyroidism	7080	NKX2-1	OMIM:610978
HP:0008223	Compensated hypothyroidism	7038	TG	OMIM:274700
HP:0008223	Compensated hypothyroidism	3766	KCNJ10	OMIM:274600
HP:0008223	Compensated hypothyroidism	2299	FOXI1	OMIM:274600
HP:0008223	Compensated hypothyroidism	5172	SLC26A4	OMIM:274600
HP:0008223	Compensated hypothyroidism	7253	TSHR	ORPHA:90673
HP:0008223	Compensated hypothyroidism	128989	TANGO2	ORPHA:480864
HP:0001060	Axillary pterygium	10082	GPC6	OMIM:258315
HP:0001060	Axillary pterygium	1146	CHRNG	OMIM:265000
HP:0001060	Axillary pterygium	1146	CHRNG	ORPHA:2990
HP:0001060	Axillary pterygium	1947	EFNB1	OMIM:304110
HP:0001060	Axillary pterygium	1147	CHUK	OMIM:619339
HP:0001060	Axillary pterygium	57211	ADGRG6	OMIM:616503
HP:0001060	Axillary pterygium	4621	MYH3	ORPHA:2990
HP:0001060	Axillary pterygium	5339	PLEC	OMIM:226730
HP:0001060	Axillary pterygium	3691	ITGB4	OMIM:226730
HP:0001060	Axillary pterygium	54101	RIPK4	OMIM:263650
HP:0001062	Atypical nevus	1019	CDK4	OMIM:609048
HP:0001062	Atypical nevus	6794	STK11	OMIM:155600
HP:0001062	Atypical nevus	673	BRAF	OMIM:155600
HP:0001063	Acrocyanosis	23474	ETHE1	ORPHA:51188
HP:0001063	Acrocyanosis	23474	ETHE1	OMIM:602473
HP:0001063	Acrocyanosis	8518	ELP1	OMIM:223900
HP:0001063	Acrocyanosis	8518	ELP1	ORPHA:1764
HP:0001063	Acrocyanosis	6197	RPS6KA3	OMIM:303600
HP:0001063	Acrocyanosis	189	AGXT	OMIM:259900
HP:0001063	Acrocyanosis	2517	FUCA1	ORPHA:349
HP:0001063	Acrocyanosis	6925	TCF4	ORPHA:2896
HP:0001063	Acrocyanosis	4598	MVK	ORPHA:343
HP:0001063	Acrocyanosis	1277	COL1A1	ORPHA:287
HP:0001063	Acrocyanosis	1289	COL5A1	ORPHA:287
HP:0001063	Acrocyanosis	1290	COL5A2	ORPHA:287
HP:0001063	Acrocyanosis	11277	TREX1	OMIM:225750
HP:0001063	Acrocyanosis	11277	TREX1	ORPHA:51
HP:0001063	Acrocyanosis	10801	SEPTIN9	ORPHA:2901
HP:0001063	Acrocyanosis	10535	RNASEH2A	ORPHA:51
HP:0001063	Acrocyanosis	84153	RNASEH2C	ORPHA:51
HP:0001063	Acrocyanosis	25939	SAMHD1	ORPHA:51
HP:0001063	Acrocyanosis	79621	RNASEH2B	ORPHA:51
HP:0001063	Acrocyanosis	103	ADAR	ORPHA:51
HP:0001063	Acrocyanosis	100147744	RNU7-1	ORPHA:51
HP:0001063	Acrocyanosis	134353	LSM11	ORPHA:51
HP:0001063	Acrocyanosis	64135	IFIH1	ORPHA:51
HP:0001063	Acrocyanosis	5077	PAX3	ORPHA:896
HP:0001069	Episodic hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0001069	Episodic hyperhidrosis	8518	ELP1	OMIM:223900
HP:0001069	Episodic hyperhidrosis	7428	VHL	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	7428	VHL	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	1743	DLST	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	5979	RET	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	5979	RET	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	2271	FH	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	55654	TMEM127	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	4763	NF1	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6391	SDHC	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6392	SDHD	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6392	SDHD	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6390	SDHB	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6390	SDHB	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	4149	MAX	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	54463	RETREG1	OMIM:613115
HP:0001069	Episodic hyperhidrosis	54463	RETREG1	OMIM:201300
HP:0001069	Episodic hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0001069	Episodic hyperhidrosis	65125	WNK1	OMIM:201300
HP:0001069	Episodic hyperhidrosis	6335	SCN9A	OMIM:201300
HP:0001069	Episodic hyperhidrosis	547	KIF1A	OMIM:201300
HP:0001069	Episodic hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0001069	Episodic hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0001069	Episodic hyperhidrosis	229	ALDOB	ORPHA:469
HP:0011281	Abnormality of urine catecholamine level	55654	TMEM127	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	55654	TMEM127	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	5979	RET	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	5979	RET	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	5979	RET	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	5979	RET	OMIM:171400
HP:0011281	Abnormality of urine catecholamine level	6390	SDHB	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	6390	SDHB	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	6390	SDHB	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	6392	SDHD	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	6392	SDHD	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	6392	SDHD	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	4149	MAX	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	4149	MAX	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	7428	VHL	OMIM:171300
HP:0011281	Abnormality of urine catecholamine level	7428	VHL	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	7428	VHL	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	1743	DLST	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	4191	MDH2	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	6389	SDHA	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	23095	KIF1B	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	2271	FH	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	8402	SLC25A11	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	54949	SDHAF2	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	4763	NF1	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	6391	SDHC	ORPHA:29072
HP:0011281	Abnormality of urine catecholamine level	1788	DNMT3A	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	2034	EPAS1	ORPHA:276621
HP:0011281	Abnormality of urine catecholamine level	6530	SLC6A2	OMIM:604715
HP:0011281	Abnormality of urine catecholamine level	595	CCND1	ORPHA:892
HP:0011281	Abnormality of urine catecholamine level	4613	MYCN	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	7153	TOP2A	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	238	ALK	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	389421	LIN28B	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	4004	LMO1	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	57531	HACE1	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	8929	PHOX2B	ORPHA:635
HP:0011281	Abnormality of urine catecholamine level	1621	DBH	ORPHA:230
HP:0011282	Abnormal hindbrain morphology	10749	KIF1C	ORPHA:397946
HP:0011282	Abnormal hindbrain morphology	10749	KIF1C	OMIM:611302
HP:0011282	Abnormal hindbrain morphology	4287	ATXN3	OMIM:109150
HP:0011282	Abnormal hindbrain morphology	4287	ATXN3	ORPHA:276238
HP:0011282	Abnormal hindbrain morphology	4287	ATXN3	ORPHA:276244
HP:0011282	Abnormal hindbrain morphology	4287	ATXN3	ORPHA:276241
HP:0011282	Abnormal hindbrain morphology	23646	PLD3	OMIM:617770
HP:0011282	Abnormal hindbrain morphology	55703	POLR3B	OMIM:614381
HP:0011282	Abnormal hindbrain morphology	55703	POLR3B	OMIM:619742
HP:0011282	Abnormal hindbrain morphology	55703	POLR3B	OMIM:607694
HP:0011282	Abnormal hindbrain morphology	26235	FBXL4	OMIM:615471
HP:0011282	Abnormal hindbrain morphology	4099	MAG	OMIM:616680
HP:0011282	Abnormal hindbrain morphology	51399	TRAPPC4	OMIM:618741
HP:0011282	Abnormal hindbrain morphology	3703	STT3A	OMIM:615596
HP:0011282	Abnormal hindbrain morphology	3703	STT3A	ORPHA:370921
HP:0011282	Abnormal hindbrain morphology	55823	VPS11	OMIM:616683
HP:0011282	Abnormal hindbrain morphology	55823	VPS11	ORPHA:466934
HP:0011282	Abnormal hindbrain morphology	51569	UFM1	OMIM:617899
HP:0011282	Abnormal hindbrain morphology	23446	SLC44A1	OMIM:618868
HP:0011282	Abnormal hindbrain morphology	2895	GRID2	OMIM:616204
HP:0011282	Abnormal hindbrain morphology	6659	SOX4	OMIM:618506
HP:0011282	Abnormal hindbrain morphology	201595	STT3B	OMIM:615597
HP:0011282	Abnormal hindbrain morphology	201595	STT3B	ORPHA:370924
HP:0011282	Abnormal hindbrain morphology	60684	TRAPPC11	OMIM:615356
HP:0011282	Abnormal hindbrain morphology	100996717	NOTCH2NLC	OMIM:618866
HP:0011282	Abnormal hindbrain morphology	81570	CLPB	OMIM:619835
HP:0011282	Abnormal hindbrain morphology	81570	CLPB	OMIM:616271
HP:0011282	Abnormal hindbrain morphology	81570	CLPB	ORPHA:445038
HP:0011282	Abnormal hindbrain morphology	1786	DNMT1	ORPHA:314404
HP:0011282	Abnormal hindbrain morphology	1786	DNMT1	OMIM:604121
HP:0011282	Abnormal hindbrain morphology	10159	ATP6AP2	ORPHA:93952
HP:0011282	Abnormal hindbrain morphology	10159	ATP6AP2	OMIM:300423
HP:0011282	Abnormal hindbrain morphology	5521	PPP2R2B	OMIM:604326
HP:0011282	Abnormal hindbrain morphology	5521	PPP2R2B	ORPHA:98762
HP:0011282	Abnormal hindbrain morphology	6687	SPG7	ORPHA:99013
HP:0011282	Abnormal hindbrain morphology	6687	SPG7	OMIM:607259
HP:0011282	Abnormal hindbrain morphology	3074	HEXB	ORPHA:309162
HP:0011282	Abnormal hindbrain morphology	10908	PNPLA6	ORPHA:139480
HP:0011282	Abnormal hindbrain morphology	10908	PNPLA6	OMIM:215470
HP:0011282	Abnormal hindbrain morphology	10908	PNPLA6	OMIM:612020
HP:0011282	Abnormal hindbrain morphology	65993	MRPS34	OMIM:617664
HP:0011282	Abnormal hindbrain morphology	10300	KATNB1	OMIM:616212
HP:0011282	Abnormal hindbrain morphology	10300	KATNB1	ORPHA:89844
HP:0011282	Abnormal hindbrain morphology	8722	CTSF	OMIM:615362
HP:0011282	Abnormal hindbrain morphology	56997	COQ8A	ORPHA:139485
HP:0011282	Abnormal hindbrain morphology	56997	COQ8A	OMIM:612016
HP:0011282	Abnormal hindbrain morphology	10026	PIGK	OMIM:618879
HP:0011282	Abnormal hindbrain morphology	477	ATP1A2	OMIM:619605
HP:0011282	Abnormal hindbrain morphology	477	ATP1A2	OMIM:602481
HP:0011282	Abnormal hindbrain morphology	477	ATP1A2	ORPHA:569
HP:0011282	Abnormal hindbrain morphology	478	ATP1A3	OMIM:619606
HP:0011282	Abnormal hindbrain morphology	478	ATP1A3	ORPHA:71517
HP:0011282	Abnormal hindbrain morphology	10501	SEMA6B	OMIM:618876
HP:0011282	Abnormal hindbrain morphology	84520	GON7	OMIM:619603
HP:0011282	Abnormal hindbrain morphology	55768	NGLY1	ORPHA:404454
HP:0011282	Abnormal hindbrain morphology	79693	YRDC	OMIM:619609
HP:0011282	Abnormal hindbrain morphology	146057	TTBK2	OMIM:604432
HP:0011282	Abnormal hindbrain morphology	535	ATP6V0A1	OMIM:619971
HP:0011282	Abnormal hindbrain morphology	7345	UCHL1	OMIM:615491
HP:0011282	Abnormal hindbrain morphology	7343	UBTF	OMIM:617672
HP:0011282	Abnormal hindbrain morphology	816	CAMK2B	OMIM:617799
HP:0011282	Abnormal hindbrain morphology	10352	WARS2	OMIM:619738
HP:0011282	Abnormal hindbrain morphology	10352	WARS2	ORPHA:572798
HP:0011282	Abnormal hindbrain morphology	10352	WARS2	OMIM:617710
HP:0011282	Abnormal hindbrain morphology	3064	HTT	OMIM:617435
HP:0011282	Abnormal hindbrain morphology	3064	HTT	OMIM:143100
HP:0011282	Abnormal hindbrain morphology	3064	HTT	ORPHA:248111
HP:0011282	Abnormal hindbrain morphology	7436	VLDLR	OMIM:224050
HP:0011282	Abnormal hindbrain morphology	9326	ZNHIT3	ORPHA:2836
HP:0011282	Abnormal hindbrain morphology	9326	ZNHIT3	OMIM:260565
HP:0011282	Abnormal hindbrain morphology	547	KIF1A	ORPHA:2836
HP:0011282	Abnormal hindbrain morphology	547	KIF1A	OMIM:610357
HP:0011282	Abnormal hindbrain morphology	547	KIF1A	OMIM:614255
HP:0011282	Abnormal hindbrain morphology	8560	DEGS1	OMIM:618404
HP:0011282	Abnormal hindbrain morphology	10939	AFG3L2	ORPHA:313772
HP:0011282	Abnormal hindbrain morphology	10939	AFG3L2	OMIM:610246
HP:0011282	Abnormal hindbrain morphology	10939	AFG3L2	OMIM:614487
HP:0011282	Abnormal hindbrain morphology	1130	LYST	ORPHA:167
HP:0011282	Abnormal hindbrain morphology	343641	TGM6	ORPHA:276193
HP:0011282	Abnormal hindbrain morphology	343641	TGM6	OMIM:613908
HP:0011282	Abnormal hindbrain morphology	10715	CERS1	OMIM:616230
HP:0011282	Abnormal hindbrain morphology	84504	NKX6-2	OMIM:617560
HP:0011282	Abnormal hindbrain morphology	84504	NKX6-2	ORPHA:527497
HP:0011282	Abnormal hindbrain morphology	10935	PRDX3	OMIM:619862
HP:0011282	Abnormal hindbrain morphology	2744	GLS	OMIM:618412
HP:0011282	Abnormal hindbrain morphology	6712	SPTBN2	OMIM:615386
HP:0011282	Abnormal hindbrain morphology	6712	SPTBN2	OMIM:600224
HP:0011282	Abnormal hindbrain morphology	6712	SPTBN2	ORPHA:98766
HP:0011282	Abnormal hindbrain morphology	6712	SPTBN2	ORPHA:352403
HP:0011282	Abnormal hindbrain morphology	83636	C19orf12	OMIM:614298
HP:0011282	Abnormal hindbrain morphology	833	CARS1	OMIM:618891
HP:0011282	Abnormal hindbrain morphology	57178	ZMIZ1	OMIM:618659
HP:0011282	Abnormal hindbrain morphology	246243	RNASEH1	OMIM:616479
HP:0011282	Abnormal hindbrain morphology	51761	ATP8A2	OMIM:615268
HP:0011282	Abnormal hindbrain morphology	54840	APTX	OMIM:208920
HP:0011282	Abnormal hindbrain morphology	79731	NARS2	OMIM:616239
HP:0011282	Abnormal hindbrain morphology	6905	TBCE	OMIM:617207
HP:0011282	Abnormal hindbrain morphology	6905	TBCE	ORPHA:496756
HP:0011282	Abnormal hindbrain morphology	950	SCARB2	OMIM:254900
HP:0011282	Abnormal hindbrain morphology	5373	PMM2	OMIM:212065
HP:0011282	Abnormal hindbrain morphology	253738	EBF3	OMIM:617330
HP:0011282	Abnormal hindbrain morphology	1186	CLCN7	OMIM:618541
HP:0011282	Abnormal hindbrain morphology	55621	TRMT1	OMIM:618302
HP:0011282	Abnormal hindbrain morphology	51604	PIGT	OMIM:615398
HP:0011282	Abnormal hindbrain morphology	51604	PIGT	ORPHA:369837
HP:0011282	Abnormal hindbrain morphology	55280	CWF19L1	OMIM:616127
HP:0011282	Abnormal hindbrain morphology	3098	HK1	OMIM:618547
HP:0011282	Abnormal hindbrain morphology	8021	NUP214	OMIM:618426
HP:0011282	Abnormal hindbrain morphology	4191	MDH2	OMIM:617339
HP:0011282	Abnormal hindbrain morphology	150468	CKAP2L	OMIM:272440
HP:0011282	Abnormal hindbrain morphology	285362	SUMF1	OMIM:272200
HP:0011282	Abnormal hindbrain morphology	56052	ALG1	ORPHA:79327
HP:0011282	Abnormal hindbrain morphology	79796	ALG9	ORPHA:79328
HP:0011282	Abnormal hindbrain morphology	79796	ALG9	OMIM:608776
HP:0011282	Abnormal hindbrain morphology	3766	KCNJ10	ORPHA:199343
HP:0011282	Abnormal hindbrain morphology	3766	KCNJ10	OMIM:612780
HP:0011282	Abnormal hindbrain morphology	55210	ATAD3A	ORPHA:496790
HP:0011282	Abnormal hindbrain morphology	55210	ATAD3A	OMIM:617183
HP:0011282	Abnormal hindbrain morphology	9533	POLR1C	OMIM:616494
HP:0011282	Abnormal hindbrain morphology	54828	BCAS3	OMIM:619641
HP:0011282	Abnormal hindbrain morphology	8733	GPAA1	ORPHA:529665
HP:0011282	Abnormal hindbrain morphology	8733	GPAA1	OMIM:617810
HP:0011282	Abnormal hindbrain morphology	5621	PRNP	ORPHA:157941
HP:0011282	Abnormal hindbrain morphology	5621	PRNP	OMIM:137440
HP:0011282	Abnormal hindbrain morphology	2232	FDXR	ORPHA:543470
HP:0011282	Abnormal hindbrain morphology	56947	MFF	ORPHA:485421
HP:0011282	Abnormal hindbrain morphology	56947	MFF	OMIM:617086
HP:0011282	Abnormal hindbrain morphology	23400	ATP13A2	OMIM:617225
HP:0011282	Abnormal hindbrain morphology	23400	ATP13A2	ORPHA:513436
HP:0011282	Abnormal hindbrain morphology	10531	PITRM1	OMIM:619405
HP:0011282	Abnormal hindbrain morphology	146227	BEAN1	ORPHA:217012
HP:0011282	Abnormal hindbrain morphology	146227	BEAN1	OMIM:117210
HP:0011282	Abnormal hindbrain morphology	256471	MFSD8	OMIM:610951
HP:0011282	Abnormal hindbrain morphology	91949	COG7	ORPHA:79333
HP:0011282	Abnormal hindbrain morphology	91949	COG7	OMIM:608779
HP:0011282	Abnormal hindbrain morphology	23556	PIGN	OMIM:614080
HP:0011282	Abnormal hindbrain morphology	23556	PIGN	ORPHA:280633
HP:0011282	Abnormal hindbrain morphology	51651	PTRH2	OMIM:616263
HP:0011282	Abnormal hindbrain morphology	23007	PLCH1	OMIM:619895
HP:0011282	Abnormal hindbrain morphology	23162	MAPK8IP3	OMIM:618443
HP:0011282	Abnormal hindbrain morphology	197258	FCSK	OMIM:618324
HP:0011282	Abnormal hindbrain morphology	11284	PNKP	OMIM:616267
HP:0011282	Abnormal hindbrain morphology	11284	PNKP	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	11284	PNKP	OMIM:613402
HP:0011282	Abnormal hindbrain morphology	259232	NALCN	OMIM:616266
HP:0011282	Abnormal hindbrain morphology	339855	KY	ORPHA:496689
HP:0011282	Abnormal hindbrain morphology	125988	MICOS13	OMIM:618329
HP:0011282	Abnormal hindbrain morphology	29960	MRM2	OMIM:618567
HP:0011282	Abnormal hindbrain morphology	2055	CLN8	ORPHA:1947
HP:0011282	Abnormal hindbrain morphology	2055	CLN8	OMIM:600143
HP:0011282	Abnormal hindbrain morphology	2055	CLN8	OMIM:610003
HP:0011282	Abnormal hindbrain morphology	8813	DPM1	ORPHA:79322
HP:0011282	Abnormal hindbrain morphology	57192	MCOLN1	OMIM:252650
HP:0011282	Abnormal hindbrain morphology	58497	PRUNE1	OMIM:617481
HP:0011282	Abnormal hindbrain morphology	58497	PRUNE1	ORPHA:544469
HP:0011282	Abnormal hindbrain morphology	5111	PCNA	ORPHA:438134
HP:0011282	Abnormal hindbrain morphology	5111	PCNA	OMIM:615919
HP:0011282	Abnormal hindbrain morphology	3980	LIG3	OMIM:619780
HP:0011282	Abnormal hindbrain morphology	11232	POLG2	OMIM:619425
HP:0011282	Abnormal hindbrain morphology	11232	POLG2	ORPHA:254892
HP:0011282	Abnormal hindbrain morphology	11232	POLG2	OMIM:610131
HP:0011282	Abnormal hindbrain morphology	6792	CDKL5	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	3736	KCNA1	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	3736	KCNA1	ORPHA:37612
HP:0011282	Abnormal hindbrain morphology	9091	PIGQ	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2775	GNAO1	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2775	GNAO1	OMIM:617493
HP:0011282	Abnormal hindbrain morphology	81603	TRIM8	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2902	GRIN1	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2902	GRIN1	OMIM:614254
HP:0011282	Abnormal hindbrain morphology	79751	SLC25A22	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	150094	SIK1	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	23312	DMXL2	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2917	GRM7	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	2917	GRM7	OMIM:618922
HP:0011282	Abnormal hindbrain morphology	170302	ARX	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	6326	SCN2A	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	51227	PIGP	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	6324	SCN1B	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	4761	NEUROD2	ORPHA:1934
HP:0011282	Abnormal hindbrain morphology	1203	CLN5	ORPHA:228360
HP:0011282	Abnormal hindbrain morphology	1203	CLN5	OMIM:256731
HP:0011282	Abnormal hindbrain morphology	291	SLC25A4	ORPHA:254892
HP:0011282	Abnormal hindbrain morphology	50484	RRM2B	ORPHA:254892
HP:0011282	Abnormal hindbrain morphology	23111	SPART	OMIM:275900
HP:0011282	Abnormal hindbrain morphology	10059	DNM1L	ORPHA:330050
HP:0011282	Abnormal hindbrain morphology	10059	DNM1L	ORPHA:98673
HP:0011282	Abnormal hindbrain morphology	8925	HERC1	OMIM:617011
HP:0011282	Abnormal hindbrain morphology	79876	UBA5	OMIM:617132
HP:0011282	Abnormal hindbrain morphology	79876	UBA5	OMIM:617133
HP:0011282	Abnormal hindbrain morphology	10466	COG5	ORPHA:263487
HP:0011282	Abnormal hindbrain morphology	10466	COG5	OMIM:613612
HP:0011282	Abnormal hindbrain morphology	9759	HDAC4	OMIM:619797
HP:0011282	Abnormal hindbrain morphology	23516	SLC39A14	OMIM:617013
HP:0011282	Abnormal hindbrain morphology	23516	SLC39A14	ORPHA:521406
HP:0011282	Abnormal hindbrain morphology	8506	CNTNAP1	OMIM:616286
HP:0011282	Abnormal hindbrain morphology	8506	CNTNAP1	OMIM:618186
HP:0011282	Abnormal hindbrain morphology	23345	SYNE1	ORPHA:88644
HP:0011282	Abnormal hindbrain morphology	23345	SYNE1	OMIM:610743
HP:0011282	Abnormal hindbrain morphology	51728	POLR3K	OMIM:619310
HP:0011282	Abnormal hindbrain morphology	10785	WDR4	OMIM:618347
HP:0011282	Abnormal hindbrain morphology	4719	NDUFS1	OMIM:618226
HP:0011282	Abnormal hindbrain morphology	51412	ACTL6B	OMIM:618468
HP:0011282	Abnormal hindbrain morphology	3708	ITPR1	ORPHA:208513
HP:0011282	Abnormal hindbrain morphology	3708	ITPR1	OMIM:206700
HP:0011282	Abnormal hindbrain morphology	3708	ITPR1	ORPHA:98769
HP:0011282	Abnormal hindbrain morphology	3708	ITPR1	OMIM:606658
HP:0011282	Abnormal hindbrain morphology	6507	SLC1A3	ORPHA:209967
HP:0011282	Abnormal hindbrain morphology	6507	SLC1A3	OMIM:612656
HP:0011282	Abnormal hindbrain morphology	128869	PIGU	OMIM:618590
HP:0011282	Abnormal hindbrain morphology	6548	SLC9A1	OMIM:616291
HP:0011282	Abnormal hindbrain morphology	55610	VPS50	OMIM:619685
HP:0011282	Abnormal hindbrain morphology	7084	TK2	ORPHA:254886
HP:0011282	Abnormal hindbrain morphology	81790	RNF170	OMIM:619686
HP:0011282	Abnormal hindbrain morphology	23102	TBC1D2B	OMIM:619323
HP:0011282	Abnormal hindbrain morphology	23114	NFASC	OMIM:618356
HP:0011282	Abnormal hindbrain morphology	6647	SOD1	OMIM:618598
HP:0011282	Abnormal hindbrain morphology	92667	MGME1	OMIM:615084
HP:0011282	Abnormal hindbrain morphology	92667	MGME1	ORPHA:352447
HP:0011282	Abnormal hindbrain morphology	25814	ATXN10	OMIM:603516
HP:0011282	Abnormal hindbrain morphology	25814	ATXN10	ORPHA:98761
HP:0011282	Abnormal hindbrain morphology	54820	NDE1	ORPHA:89844
HP:0011282	Abnormal hindbrain morphology	51601	LIPT1	OMIM:616299
HP:0011282	Abnormal hindbrain morphology	8878	SQSTM1	OMIM:617145
HP:0011282	Abnormal hindbrain morphology	29078	NDUFAF4	OMIM:618237
HP:0011282	Abnormal hindbrain morphology	11152	WDR45	ORPHA:329284
HP:0011282	Abnormal hindbrain morphology	11152	WDR45	OMIM:300894
HP:0011282	Abnormal hindbrain morphology	154881	KCTD7	OMIM:611726
HP:0011282	Abnormal hindbrain morphology	154881	KCTD7	ORPHA:263516
HP:0011282	Abnormal hindbrain morphology	9179	AP4M1	OMIM:612936
HP:0011282	Abnormal hindbrain morphology	9179	AP4M1	ORPHA:280763
HP:0011282	Abnormal hindbrain morphology	6904	TBCD	ORPHA:496641
HP:0011282	Abnormal hindbrain morphology	6904	TBCD	OMIM:617193
HP:0011282	Abnormal hindbrain morphology	4976	OPA1	ORPHA:98673
HP:0011282	Abnormal hindbrain morphology	4976	OPA1	OMIM:210000
HP:0011282	Abnormal hindbrain morphology	5934	RBL2	OMIM:619690
HP:0011282	Abnormal hindbrain morphology	25929	GEMIN5	OMIM:619333
HP:0011282	Abnormal hindbrain morphology	4621	MYH3	OMIM:193700
HP:0011282	Abnormal hindbrain morphology	56915	EXOSC5	OMIM:619576
HP:0011282	Abnormal hindbrain morphology	10588	MTHFS	OMIM:618367
HP:0011282	Abnormal hindbrain morphology	63925	ZNF335	OMIM:615095
HP:0011282	Abnormal hindbrain morphology	4704	NDUFA9	OMIM:618247
HP:0011282	Abnormal hindbrain morphology	55572	FOXRED1	OMIM:618241
HP:0011282	Abnormal hindbrain morphology	3746	KCNC1	OMIM:616187
HP:0011282	Abnormal hindbrain morphology	8120	AP3B2	OMIM:617276
HP:0011282	Abnormal hindbrain morphology	54834	GDAP2	OMIM:618369
HP:0011282	Abnormal hindbrain morphology	7965	AIMP2	OMIM:618006
HP:0011282	Abnormal hindbrain morphology	51079	NDUFA13	OMIM:618249
HP:0011282	Abnormal hindbrain morphology	26999	CYFIP2	OMIM:618008
HP:0011282	Abnormal hindbrain morphology	1201	CLN3	ORPHA:228346
HP:0011282	Abnormal hindbrain morphology	773	CACNA1A	ORPHA:569
HP:0011282	Abnormal hindbrain morphology	773	CACNA1A	OMIM:183086
HP:0011282	Abnormal hindbrain morphology	773	CACNA1A	OMIM:141500
HP:0011282	Abnormal hindbrain morphology	112476	PRRT2	ORPHA:569
HP:0011282	Abnormal hindbrain morphology	6323	SCN1A	ORPHA:569
HP:0011282	Abnormal hindbrain morphology	2898	GRIK2	OMIM:619580
HP:0011282	Abnormal hindbrain morphology	5611	DNAJC3	OMIM:616192
HP:0011282	Abnormal hindbrain morphology	5611	DNAJC3	ORPHA:445062
HP:0011282	Abnormal hindbrain morphology	2332	FMR1	OMIM:300623
HP:0011282	Abnormal hindbrain morphology	10524	KAT5	OMIM:619103
HP:0011282	Abnormal hindbrain morphology	372	ARCN1	OMIM:617164
HP:0011282	Abnormal hindbrain morphology	2705	GJB1	OMIM:302800
HP:0011282	Abnormal hindbrain morphology	523	ATP6V1A	OMIM:618012
HP:0011282	Abnormal hindbrain morphology	2257	FGF12	OMIM:617166
HP:0011282	Abnormal hindbrain morphology	2071	ERCC3	OMIM:610651
HP:0011282	Abnormal hindbrain morphology	1200	TPP1	OMIM:609270
HP:0011282	Abnormal hindbrain morphology	1200	TPP1	ORPHA:284324
HP:0011282	Abnormal hindbrain morphology	220296	HEPACAM	OMIM:613925
HP:0011282	Abnormal hindbrain morphology	1938	EEF2	ORPHA:101112
HP:0011282	Abnormal hindbrain morphology	1938	EEF2	OMIM:609306
HP:0011282	Abnormal hindbrain morphology	65260	COA7	OMIM:618387
HP:0011282	Abnormal hindbrain morphology	23316	CUX2	OMIM:618141
HP:0011282	Abnormal hindbrain morphology	64849	SLC13A3	OMIM:618384
HP:0011282	Abnormal hindbrain morphology	4361	MRE11	ORPHA:251347
HP:0011282	Abnormal hindbrain morphology	4361	MRE11	OMIM:604391
HP:0011282	Abnormal hindbrain morphology	1528	CYB5A	ORPHA:621
HP:0011282	Abnormal hindbrain morphology	1727	CYB5R3	ORPHA:621
HP:0011282	Abnormal hindbrain morphology	2571	GAD1	OMIM:619124
HP:0011282	Abnormal hindbrain morphology	6872	TAF1	OMIM:300966
HP:0011282	Abnormal hindbrain morphology	90522	YIF1B	OMIM:619125
HP:0011282	Abnormal hindbrain morphology	84340	GFM2	OMIM:618397
HP:0011282	Abnormal hindbrain morphology	79152	FA2H	ORPHA:171629
HP:0011282	Abnormal hindbrain morphology	79152	FA2H	ORPHA:329308
HP:0011282	Abnormal hindbrain morphology	79152	FA2H	OMIM:612319
HP:0011282	Abnormal hindbrain morphology	57038	RARS2	OMIM:611523
HP:0011282	Abnormal hindbrain morphology	57704	GBA2	ORPHA:320391
HP:0011282	Abnormal hindbrain morphology	57704	GBA2	OMIM:614409
HP:0011282	Abnormal hindbrain morphology	2799	GNS	OMIM:252940
HP:0011282	Abnormal hindbrain morphology	9895	TECPR2	ORPHA:320385
HP:0011282	Abnormal hindbrain morphology	6389	SDHA	OMIM:619259
HP:0011282	Abnormal hindbrain morphology	383	ARG1	OMIM:207800
HP:0011282	Abnormal hindbrain morphology	3295	HSD17B4	OMIM:261515
HP:0011282	Abnormal hindbrain morphology	3295	HSD17B4	OMIM:233400
HP:0011282	Abnormal hindbrain morphology	54936	ADPRS	OMIM:618170
HP:0011282	Abnormal hindbrain morphology	79644	SRD5A3	ORPHA:324737
HP:0011282	Abnormal hindbrain morphology	27072	VPS41	OMIM:619389
HP:0011282	Abnormal hindbrain morphology	84274	COQ5	OMIM:619028
HP:0011282	Abnormal hindbrain morphology	221927	BRAT1	OMIM:618056
HP:0011282	Abnormal hindbrain morphology	10535	RNASEH2A	OMIM:610333
HP:0011282	Abnormal hindbrain morphology	11342	RNF13	ORPHA:544503
HP:0011282	Abnormal hindbrain morphology	64858	DCLRE1B	OMIM:620133
HP:0011282	Abnormal hindbrain morphology	55129	ANO10	OMIM:613728
HP:0011282	Abnormal hindbrain morphology	55129	ANO10	ORPHA:284289
HP:0011282	Abnormal hindbrain morphology	60481	ELOVL5	ORPHA:423296
HP:0011282	Abnormal hindbrain morphology	25792	CIZ1	ORPHA:420492
HP:0011282	Abnormal hindbrain morphology	64374	SIL1	OMIM:248800
HP:0011282	Abnormal hindbrain morphology	4702	NDUFA8	OMIM:619272
HP:0011282	Abnormal hindbrain morphology	10134	BCAP31	OMIM:300475
HP:0011282	Abnormal hindbrain morphology	10134	BCAP31	ORPHA:369939
HP:0011282	Abnormal hindbrain morphology	158	ADSL	OMIM:103050
HP:0011282	Abnormal hindbrain morphology	51102	MECR	ORPHA:508093
HP:0011282	Abnormal hindbrain morphology	7355	SLC35A2	ORPHA:356961
HP:0011282	Abnormal hindbrain morphology	347734	SLC35B2	OMIM:620269
HP:0011282	Abnormal hindbrain morphology	2896	GRN	OMIM:614706
HP:0011282	Abnormal hindbrain morphology	10667	FARS2	OMIM:614946
HP:0011282	Abnormal hindbrain morphology	200205	IBA57	ORPHA:468661
HP:0011282	Abnormal hindbrain morphology	9442	MED27	OMIM:619286
HP:0011282	Abnormal hindbrain morphology	54476	RNF216	OMIM:212840
HP:0011282	Abnormal hindbrain morphology	23431	AP4E1	OMIM:613744
HP:0011282	Abnormal hindbrain morphology	23431	AP4E1	ORPHA:280763
HP:0011282	Abnormal hindbrain morphology	4884	NPTX1	OMIM:620158
HP:0011282	Abnormal hindbrain morphology	51324	SPG21	OMIM:248900
HP:0011282	Abnormal hindbrain morphology	64207	IRF2BPL	OMIM:618088
HP:0011282	Abnormal hindbrain morphology	55157	DARS2	ORPHA:137898
HP:0011282	Abnormal hindbrain morphology	5173	PDYN	OMIM:610245
HP:0011282	Abnormal hindbrain morphology	1509	CTSD	OMIM:610127
HP:0011282	Abnormal hindbrain morphology	80856	LNPK	OMIM:618090
HP:0011282	Abnormal hindbrain morphology	1327	COX4I1	OMIM:619060
HP:0011282	Abnormal hindbrain morphology	23203	PMPCA	ORPHA:1170
HP:0011282	Abnormal hindbrain morphology	7156	TOP3A	OMIM:618098
HP:0011282	Abnormal hindbrain morphology	26090	ABHD12	OMIM:612674
HP:0011282	Abnormal hindbrain morphology	55775	TDP1	OMIM:607250
HP:0011282	Abnormal hindbrain morphology	84342	COG8	ORPHA:95428
HP:0011282	Abnormal hindbrain morphology	84342	COG8	OMIM:611182
HP:0011282	Abnormal hindbrain morphology	1600	DAB1	OMIM:615945
HP:0011282	Abnormal hindbrain morphology	10382	TUBB4A	OMIM:612438
HP:0011282	Abnormal hindbrain morphology	84947	SERAC1	OMIM:614739
HP:0011282	Abnormal hindbrain morphology	9711	RUBCN	OMIM:615705
HP:0011282	Abnormal hindbrain morphology	6908	TBP	OMIM:607136
HP:0011282	Abnormal hindbrain morphology	6908	TBP	ORPHA:98759
HP:0011282	Abnormal hindbrain morphology	7915	ALDH5A1	OMIM:271980
HP:0011282	Abnormal hindbrain morphology	2259	FGF14	OMIM:620174
HP:0011282	Abnormal hindbrain morphology	2259	FGF14	ORPHA:98764
HP:0011282	Abnormal hindbrain morphology	2259	FGF14	OMIM:193003
HP:0011282	Abnormal hindbrain morphology	3475	IFRD1	ORPHA:98771
HP:0011282	Abnormal hindbrain morphology	3752	KCND3	ORPHA:98772
HP:0011282	Abnormal hindbrain morphology	3752	KCND3	OMIM:607346
HP:0011282	Abnormal hindbrain morphology	1267	CNP	OMIM:619071
HP:0011282	Abnormal hindbrain morphology	5828	PEX2	OMIM:614866
HP:0011282	Abnormal hindbrain morphology	5828	PEX2	OMIM:614867
HP:0011282	Abnormal hindbrain morphology	90624	LYRM7	OMIM:615838
HP:0011282	Abnormal hindbrain morphology	1282	COL4A1	OMIM:175780
HP:0011282	Abnormal hindbrain morphology	3748	KCNC3	ORPHA:98768
HP:0011282	Abnormal hindbrain morphology	3748	KCNC3	OMIM:605259
HP:0011282	Abnormal hindbrain morphology	83475	DOHH	OMIM:620066
HP:0011282	Abnormal hindbrain morphology	492	ATP2B3	OMIM:302500
HP:0011282	Abnormal hindbrain morphology	255928	SYT14	ORPHA:284271
HP:0011282	Abnormal hindbrain morphology	255928	SYT14	OMIM:614229
HP:0011282	Abnormal hindbrain morphology	5192	PEX10	OMIM:614871
HP:0011282	Abnormal hindbrain morphology	9409	PEX16	OMIM:614877
HP:0011282	Abnormal hindbrain morphology	64135	IFIH1	OMIM:615846
HP:0011282	Abnormal hindbrain morphology	25828	TXN2	OMIM:616811
HP:0011282	Abnormal hindbrain morphology	7274	TTPA	OMIM:277460
HP:0011282	Abnormal hindbrain morphology	22880	MORC2	OMIM:619090
HP:0011282	Abnormal hindbrain morphology	22880	MORC2	ORPHA:466768
HP:0011282	Abnormal hindbrain morphology	55275	VPS53	OMIM:615851
HP:0011282	Abnormal hindbrain morphology	1384	CRAT	OMIM:617917
HP:0011282	Abnormal hindbrain morphology	64116	SLC39A8	ORPHA:468699
HP:0011282	Abnormal hindbrain morphology	64116	SLC39A8	OMIM:616721
HP:0011282	Abnormal hindbrain morphology	200403	VWA3B	OMIM:616948
HP:0011282	Abnormal hindbrain morphology	85021	REPS1	OMIM:617916
HP:0011282	Abnormal hindbrain morphology	57017	COQ9	OMIM:614654
HP:0011282	Abnormal hindbrain morphology	55690	PACS1	ORPHA:329224
HP:0011282	Abnormal hindbrain morphology	22907	DHX30	OMIM:617804
HP:0011282	Abnormal hindbrain morphology	79628	SH3TC2	ORPHA:99949
HP:0011282	Abnormal hindbrain morphology	7407	VARS1	OMIM:617802
HP:0011282	Abnormal hindbrain morphology	339453	TMEM240	OMIM:607454
HP:0011282	Abnormal hindbrain morphology	23064	SETX	OMIM:606002
HP:0011282	Abnormal hindbrain morphology	1861	TOR1A	OMIM:128100
HP:0011282	Abnormal hindbrain morphology	80207	OPA3	ORPHA:67036
HP:0011282	Abnormal hindbrain morphology	6334	SCN8A	OMIM:614306
HP:0011282	Abnormal hindbrain morphology	55187	VPS13D	OMIM:607317
HP:0011282	Abnormal hindbrain morphology	57505	AARS2	OMIM:615889
HP:0011282	Abnormal hindbrain morphology	50	ACO2	OMIM:614559
HP:0011282	Abnormal hindbrain morphology	2891	GRIA2	OMIM:618917
HP:0011282	Abnormal hindbrain morphology	4694	NDUFA1	OMIM:301020
HP:0011282	Abnormal hindbrain morphology	23732	FRRS1L	OMIM:616981
HP:0011282	Abnormal hindbrain morphology	63035	BCORL1	OMIM:301029
HP:0011282	Abnormal hindbrain morphology	9512	PMPCB	OMIM:617954
HP:0011282	Abnormal hindbrain morphology	6709	SPTAN1	OMIM:613477
HP:0011282	Abnormal hindbrain morphology	51741	WWOX	OMIM:614322
HP:0011282	Abnormal hindbrain morphology	2058	EPRS1	OMIM:617951
HP:0011282	Abnormal hindbrain morphology	5582	PRKCG	OMIM:605361
HP:0011282	Abnormal hindbrain morphology	5422	POLA1	OMIM:301030
HP:0011282	Abnormal hindbrain morphology	84188	FAR1	ORPHA:438178
HP:0011282	Abnormal hindbrain morphology	57511	COG6	OMIM:614576
HP:0011282	Abnormal hindbrain morphology	23065	EMC1	OMIM:616875
HP:0011282	Abnormal hindbrain morphology	128637	TBC1D20	OMIM:615663
HP:0011282	Abnormal hindbrain morphology	5981	RFC1	OMIM:614575
HP:0011282	Abnormal hindbrain morphology	55644	OSGEP	OMIM:617729
HP:0011282	Abnormal hindbrain morphology	9997	SCO2	OMIM:604377
HP:0011282	Abnormal hindbrain morphology	8270	LAGE3	OMIM:301006
HP:0011282	Abnormal hindbrain morphology	80781	COL18A1	OMIM:267750
HP:0011282	Abnormal hindbrain morphology	122553	TRAPPC6B	OMIM:617862
HP:0011282	Abnormal hindbrain morphology	7222	TRPC3	OMIM:616410
HP:0011282	Abnormal hindbrain morphology	80210	ARMC9	OMIM:617622
HP:0011282	Abnormal hindbrain morphology	2670	GFAP	ORPHA:363717
HP:0011282	Abnormal hindbrain morphology	55704	CCDC88A	OMIM:617507
HP:0011282	Abnormal hindbrain morphology	55164	SHQ1	OMIM:619922
HP:0011282	Abnormal hindbrain morphology	6785	ELOVL4	OMIM:133190
HP:0011282	Abnormal hindbrain morphology	617	BCS1L	OMIM:124000
HP:0011282	Abnormal hindbrain morphology	10717	AP4B1	ORPHA:280763
HP:0011282	Abnormal hindbrain morphology	11154	AP4S1	ORPHA:280763
HP:0011282	Abnormal hindbrain morphology	9197	SLC33A1	OMIM:614482
HP:0011282	Abnormal hindbrain morphology	4724	NDUFS4	OMIM:252010
HP:0011282	Abnormal hindbrain morphology	7515	XRCC1	OMIM:617633
HP:0011282	Abnormal hindbrain morphology	133686	NADK2	ORPHA:431361
HP:0011282	Abnormal hindbrain morphology	23533	PIK3R5	OMIM:615217
HP:0011282	Abnormal hindbrain morphology	3778	KCNMA1	OMIM:618729
HP:0011282	Abnormal hindbrain morphology	3778	KCNMA1	OMIM:617643
HP:0011282	Abnormal hindbrain morphology	51075	TMX2	OMIM:618730
HP:0011282	Abnormal hindbrain morphology	23404	EXOSC2	OMIM:617763
HP:0011282	Abnormal hindbrain morphology	79587	CARS2	OMIM:616672
HP:0011282	Abnormal hindbrain morphology	2196	FAT2	OMIM:617769
HP:0011282	Abnormal hindbrain morphology	267010	RNU12	ORPHA:512260
HP:0011282	Abnormal hindbrain morphology	10682	EBP	ORPHA:401973
HP:0011282	Abnormal hindbrain morphology	10682	EBP	OMIM:300960
HP:0011282	Abnormal hindbrain morphology	10682	EBP	OMIM:302960
HP:0011282	Abnormal hindbrain morphology	56896	DPYSL5	OMIM:619435
HP:0011282	Abnormal hindbrain morphology	55112	DYNC2I1	ORPHA:93271
HP:0011282	Abnormal hindbrain morphology	57560	IFT80	ORPHA:93271
HP:0011282	Abnormal hindbrain morphology	57539	WDR35	ORPHA:93271
HP:0011282	Abnormal hindbrain morphology	89891	DYNC2I2	ORPHA:93271
HP:0011282	Abnormal hindbrain morphology	1436	CSF1R	OMIM:618476
HP:0011282	Abnormal hindbrain morphology	84892	POMGNT2	ORPHA:899
HP:0011282	Abnormal hindbrain morphology	79068	FTO	OMIM:612938
HP:0011282	Abnormal hindbrain morphology	57492	ARID1B	OMIM:135900
HP:0011282	Abnormal hindbrain morphology	57492	ARID1B	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	3899	AFF3	OMIM:619297
HP:0011282	Abnormal hindbrain morphology	6597	SMARCA4	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6597	SMARCA4	OMIM:614609
HP:0011282	Abnormal hindbrain morphology	6598	SMARCB1	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6598	SMARCB1	OMIM:614608
HP:0011282	Abnormal hindbrain morphology	8289	ARID1A	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	8289	ARID1A	OMIM:614607
HP:0011282	Abnormal hindbrain morphology	5977	DPF2	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6601	SMARCC2	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6602	SMARCD1	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	196528	ARID2	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6605	SMARCE1	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	6605	SMARCE1	OMIM:616938
HP:0011282	Abnormal hindbrain morphology	6664	SOX11	ORPHA:1465
HP:0011282	Abnormal hindbrain morphology	23545	ATP6V0A2	ORPHA:2834
HP:0011282	Abnormal hindbrain morphology	23545	ATP6V0A2	OMIM:219200
HP:0011282	Abnormal hindbrain morphology	23545	ATP6V0A2	ORPHA:357074
HP:0011282	Abnormal hindbrain morphology	1801	DPH1	OMIM:616901
HP:0011282	Abnormal hindbrain morphology	1801	DPH1	ORPHA:459061
HP:0011282	Abnormal hindbrain morphology	27315	PGAP2	OMIM:614207
HP:0011282	Abnormal hindbrain morphology	157570	ESCO2	ORPHA:2319
HP:0011282	Abnormal hindbrain morphology	5340	PLG	ORPHA:722
HP:0011282	Abnormal hindbrain morphology	5340	PLG	OMIM:217090
HP:0011282	Abnormal hindbrain morphology	84314	TMEM107	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	79867	TCTN2	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	80776	B9D2	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	80776	B9D2	OMIM:614175
HP:0011282	Abnormal hindbrain morphology	79600	TCTN1	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	79583	TMEM231	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	79583	TMEM231	ORPHA:2752
HP:0011282	Abnormal hindbrain morphology	79770	TXNDC15	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	27077	B9D1	ORPHA:564
HP:0011282	Abnormal hindbrain morphology	27031	NPHP3	OMIM:267010
HP:0011282	Abnormal hindbrain morphology	27031	NPHP3	OMIM:208540
HP:0011282	Abnormal hindbrain morphology	27031	NPHP3	ORPHA:3032
HP:0011282	Abnormal hindbrain morphology	23258	DENND5A	OMIM:617281
HP:0011282	Abnormal hindbrain morphology	171023	ASXL1	ORPHA:97297
HP:0011282	Abnormal hindbrain morphology	171023	ASXL1	OMIM:605039
HP:0011282	Abnormal hindbrain morphology	2683	B4GALT1	OMIM:607091
HP:0011282	Abnormal hindbrain morphology	2683	B4GALT1	ORPHA:79332
HP:0011282	Abnormal hindbrain morphology	26005	C2CD3	OMIM:615948
HP:0011282	Abnormal hindbrain morphology	26005	C2CD3	ORPHA:434179
HP:0011282	Abnormal hindbrain morphology	26227	PHGDH	OMIM:256520
HP:0011282	Abnormal hindbrain morphology	10804	GJB6	ORPHA:477
HP:0011282	Abnormal hindbrain morphology	2706	GJB2	ORPHA:477
HP:0011282	Abnormal hindbrain morphology	4927	NUP88	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	4654	MYOD1	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	4593	MUSK	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	5913	RAPSN	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	6572	SLC18A3	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	285489	DOK7	ORPHA:994
HP:0011282	Abnormal hindbrain morphology	56006	SMG9	OMIM:616920
HP:0011282	Abnormal hindbrain morphology	51524	TMEM138	OMIM:614465
HP:0011282	Abnormal hindbrain morphology	4534	MTM1	OMIM:310400
HP:0011282	Abnormal hindbrain morphology	54880	BCOR	OMIM:300166
HP:0011282	Abnormal hindbrain morphology	203068	TUBB	OMIM:156610
HP:0011282	Abnormal hindbrain morphology	55640	FLVCR2	OMIM:225790
HP:0011282	Abnormal hindbrain morphology	5500	PPP1CB	OMIM:617506
HP:0011282	Abnormal hindbrain morphology	54676	GTPBP2	OMIM:617988
HP:0011282	Abnormal hindbrain morphology	2239	GPC4	ORPHA:373
HP:0011282	Abnormal hindbrain morphology	2719	GPC3	ORPHA:373
HP:0011282	Abnormal hindbrain morphology	2121	EVC	OMIM:225500
HP:0011282	Abnormal hindbrain morphology	132884	EVC2	OMIM:225500
HP:0011282	Abnormal hindbrain morphology	153241	CEP120	OMIM:616300
HP:0011282	Abnormal hindbrain morphology	529	ATP6V1E1	ORPHA:357074
HP:0011282	Abnormal hindbrain morphology	3798	KIF5A	OMIM:617235
HP:0011282	Abnormal hindbrain morphology	1028	CDKN1C	OMIM:130650
HP:0011282	Abnormal hindbrain morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011282	Abnormal hindbrain morphology	3481	IGF2	OMIM:130650
HP:0011282	Abnormal hindbrain morphology	3784	KCNQ1	OMIM:130650
HP:0011282	Abnormal hindbrain morphology	1376	CPT2	ORPHA:228305
HP:0011282	Abnormal hindbrain morphology	219844	HYLS1	OMIM:236680
HP:0011282	Abnormal hindbrain morphology	9420	CYP7B1	ORPHA:100986
HP:0011282	Abnormal hindbrain morphology	9420	CYP7B1	OMIM:270800
HP:0011282	Abnormal hindbrain morphology	5626	PROP1	ORPHA:226307
HP:0011282	Abnormal hindbrain morphology	89884	LHX4	ORPHA:226307
HP:0011282	Abnormal hindbrain morphology	8022	LHX3	ORPHA:226307
HP:0011282	Abnormal hindbrain morphology	5449	POU1F1	ORPHA:226307
HP:0011282	Abnormal hindbrain morphology	4508	MT-ATP6	ORPHA:320360
HP:0011282	Abnormal hindbrain morphology	8314	BAP1	ORPHA:2495
HP:0011282	Abnormal hindbrain morphology	4771	NF2	ORPHA:2495
HP:0011282	Abnormal hindbrain morphology	4771	NF2	ORPHA:637
HP:0011282	Abnormal hindbrain morphology	84231	TRAF7	ORPHA:2495
HP:0011282	Abnormal hindbrain morphology	207	AKT1	ORPHA:2495
HP:0011282	Abnormal hindbrain morphology	207	AKT1	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	55746	NUP133	OMIM:618349
HP:0011282	Abnormal hindbrain morphology	8050	PDHX	ORPHA:255182
HP:0011282	Abnormal hindbrain morphology	10613	ERLIN1	ORPHA:401785
HP:0011282	Abnormal hindbrain morphology	10613	ERLIN1	OMIM:615681
HP:0011282	Abnormal hindbrain morphology	23503	ZFYVE26	OMIM:270700
HP:0011282	Abnormal hindbrain morphology	23503	ZFYVE26	ORPHA:100996
HP:0011282	Abnormal hindbrain morphology	2521	FUS	ORPHA:300605
HP:0011282	Abnormal hindbrain morphology	80208	SPG11	ORPHA:300605
HP:0011282	Abnormal hindbrain morphology	10280	SIGMAR1	ORPHA:300605
HP:0011282	Abnormal hindbrain morphology	10558	SPTLC1	ORPHA:300605
HP:0011282	Abnormal hindbrain morphology	57679	ALS2	ORPHA:300605
HP:0011282	Abnormal hindbrain morphology	9101	USP8	ORPHA:401795
HP:0011282	Abnormal hindbrain morphology	6609	SMPD1	ORPHA:77293
HP:0011282	Abnormal hindbrain morphology	80224	NUBPL	OMIM:618242
HP:0011282	Abnormal hindbrain morphology	84668	HYCC1	ORPHA:85163
HP:0011282	Abnormal hindbrain morphology	84668	HYCC1	OMIM:610532
HP:0011282	Abnormal hindbrain morphology	9968	MED12	ORPHA:93932
HP:0011282	Abnormal hindbrain morphology	8139	GAN	ORPHA:643
HP:0011282	Abnormal hindbrain morphology	8139	GAN	OMIM:256850
HP:0011282	Abnormal hindbrain morphology	3119	HLA-DQB1	OMIM:123400
HP:0011282	Abnormal hindbrain morphology	5832	ALDH18A1	ORPHA:447753
HP:0011282	Abnormal hindbrain morphology	10483	SEC23B	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	6390	SDHB	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	6392	SDHD	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	6391	SDHC	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	205717	USF3	ORPHA:201
HP:0011282	Abnormal hindbrain morphology	2583	B4GALNT1	ORPHA:101006
HP:0011282	Abnormal hindbrain morphology	80331	DNAJC5	OMIM:162350
HP:0011282	Abnormal hindbrain morphology	22884	WDR37	OMIM:618652
HP:0011282	Abnormal hindbrain morphology	113278	SLC52A3	OMIM:211530
HP:0011282	Abnormal hindbrain morphology	27183	VPS4A	OMIM:619273
HP:0011282	Abnormal hindbrain morphology	10128	LRPPRC	OMIM:220111
HP:0011282	Abnormal hindbrain morphology	54892	NCAPG2	OMIM:618460
HP:0011282	Abnormal hindbrain morphology	4750	NEK1	OMIM:263520
HP:0011282	Abnormal hindbrain morphology	23241	PACS2	OMIM:618067
HP:0011282	Abnormal hindbrain morphology	26160	IFT172	OMIM:615630
HP:0011282	Abnormal hindbrain morphology	55733	HHAT	OMIM:600092
HP:0011282	Abnormal hindbrain morphology	8496	PPFIBP1	OMIM:620024
HP:0011282	Abnormal hindbrain morphology	64324	NSD1	ORPHA:821
HP:0011282	Abnormal hindbrain morphology	9578	CDC42BPB	OMIM:619841
HP:0011282	Abnormal hindbrain morphology	3020	H3-3A	OMIM:619720
HP:0011282	Abnormal hindbrain morphology	219854	TMEM218	OMIM:619562
HP:0011282	Abnormal hindbrain morphology	219854	TMEM218	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	7280	TUBB2A	OMIM:615763
HP:0011282	Abnormal hindbrain morphology	95681	CEP41	ORPHA:220493
HP:0011282	Abnormal hindbrain morphology	95681	CEP41	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	29968	PSAT1	OMIM:610992
HP:0011282	Abnormal hindbrain morphology	29968	PSAT1	ORPHA:284417
HP:0011282	Abnormal hindbrain morphology	57082	KNL1	OMIM:604321
HP:0011282	Abnormal hindbrain morphology	55777	MBD5	OMIM:156200
HP:0011282	Abnormal hindbrain morphology	22930	RAB3GAP1	OMIM:600118
HP:0011282	Abnormal hindbrain morphology	22930	RAB3GAP1	ORPHA:2510
HP:0011282	Abnormal hindbrain morphology	1778	DYNC1H1	OMIM:614563
HP:0011282	Abnormal hindbrain morphology	23090	ZNF423	OMIM:614844
HP:0011282	Abnormal hindbrain morphology	23090	ZNF423	ORPHA:2318
HP:0011282	Abnormal hindbrain morphology	22897	CEP164	OMIM:614845
HP:0011282	Abnormal hindbrain morphology	54974	THG1L	OMIM:618800
HP:0011282	Abnormal hindbrain morphology	93627	TBCK	OMIM:616900
HP:0011282	Abnormal hindbrain morphology	1063	CENPF	OMIM:243605
HP:0011282	Abnormal hindbrain morphology	23116	TOGARAM1	OMIM:619185
HP:0011282	Abnormal hindbrain morphology	23116	TOGARAM1	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	7703	PCGF2	OMIM:618371
HP:0011282	Abnormal hindbrain morphology	127833	SYT2	OMIM:619461
HP:0011282	Abnormal hindbrain morphology	8550	MAPKAPK5	OMIM:619869
HP:0011282	Abnormal hindbrain morphology	545	ATR	OMIM:210600
HP:0011282	Abnormal hindbrain morphology	60386	SLC25A19	ORPHA:99742
HP:0011282	Abnormal hindbrain morphology	60386	SLC25A19	OMIM:607196
HP:0011282	Abnormal hindbrain morphology	2296	FOXC1	OMIM:602482
HP:0011282	Abnormal hindbrain morphology	2296	FOXC1	OMIM:601631
HP:0011282	Abnormal hindbrain morphology	8241	RBM10	OMIM:311900
HP:0011282	Abnormal hindbrain morphology	51684	SUFU	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	65250	CPLANE1	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	65250	CPLANE1	OMIM:277170
HP:0011282	Abnormal hindbrain morphology	65250	CPLANE1	ORPHA:2754
HP:0011282	Abnormal hindbrain morphology	200894	ARL13B	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	9731	CEP104	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	23247	KATNIP	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	23247	KATNIP	OMIM:616784
HP:0011282	Abnormal hindbrain morphology	10464	PIBF1	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	25776	CBY1	ORPHA:475
HP:0011282	Abnormal hindbrain morphology	2615	LRRC32	OMIM:619074
HP:0011282	Abnormal hindbrain morphology	4352	MPL	OMIM:604498
HP:0011282	Abnormal hindbrain morphology	163786	SASS6	OMIM:616402
HP:0011282	Abnormal hindbrain morphology	29957	SLC25A24	OMIM:612289
HP:0011282	Abnormal hindbrain morphology	51692	CPSF3	OMIM:619876
HP:0011282	Abnormal hindbrain morphology	10236	HNRNPR	OMIM:620073
HP:0011282	Abnormal hindbrain morphology	51611	DPH5	OMIM:620070
HP:0011282	Abnormal hindbrain morphology	22983	MAST1	OMIM:618273
HP:0011282	Abnormal hindbrain morphology	90416	CCDC32	OMIM:619123
HP:0011282	Abnormal hindbrain morphology	5591	PRKDC	OMIM:615966
HP:0011282	Abnormal hindbrain morphology	54499	TMCO1	ORPHA:1394
HP:0011282	Abnormal hindbrain morphology	79971	WLS	OMIM:619648
HP:0011282	Abnormal hindbrain morphology	79633	FAT4	ORPHA:314679
HP:0011282	Abnormal hindbrain morphology	8642	DCHS1	ORPHA:314679
HP:0011282	Abnormal hindbrain morphology	55691	FRMD4A	OMIM:616819
HP:0011282	Abnormal hindbrain morphology	55691	FRMD4A	ORPHA:466688
HP:0011282	Abnormal hindbrain morphology	3187	HNRNPH1	OMIM:620083
HP:0011282	Abnormal hindbrain morphology	57020	VPS35L	OMIM:619135
HP:0011282	Abnormal hindbrain morphology	4123	MAN2C1	OMIM:619775
HP:0011282	Abnormal hindbrain morphology	2806	GOT2	OMIM:618721
HP:0011282	Abnormal hindbrain morphology	84081	NSRP1	OMIM:620001
HP:0011282	Abnormal hindbrain morphology	5048	PAFAH1B1	ORPHA:95232
HP:0011282	Abnormal hindbrain morphology	9939	RBM8A	OMIM:274000
HP:0011282	Abnormal hindbrain morphology	22931	RAB18	ORPHA:2510
HP:0011282	Abnormal hindbrain morphology	10079	ATP9A	OMIM:620242
HP:0011282	Abnormal hindbrain morphology	10210	TOPORS	ORPHA:2754
HP:0011282	Abnormal hindbrain morphology	317662	FAM149B1	ORPHA:2754
HP:0011282	Abnormal hindbrain morphology	9896	FIG4	OMIM:216340
HP:0011282	Abnormal hindbrain morphology	23299	BICD2	OMIM:618291
HP:0011282	Abnormal hindbrain morphology	129285	PPP1R21	OMIM:619383
HP:0011282	Abnormal hindbrain morphology	79023	NUP37	OMIM:618179
HP:0011282	Abnormal hindbrain morphology	8295	TRRAP	OMIM:618454
HP:0011282	Abnormal hindbrain morphology	9230	RAB11B	OMIM:617807
HP:0011282	Abnormal hindbrain morphology	11113	CIT	OMIM:617090
HP:0011282	Abnormal hindbrain morphology	11253	MAN1B1	ORPHA:397941
HP:0011282	Abnormal hindbrain morphology	11253	MAN1B1	OMIM:614202
HP:0011282	Abnormal hindbrain morphology	83700	JAM3	OMIM:613730
HP:0011282	Abnormal hindbrain morphology	55627	SMPD4	OMIM:618622
HP:0011282	Abnormal hindbrain morphology	55325	UFSP2	OMIM:620028
HP:0011282	Abnormal hindbrain morphology	1736	DKC1	OMIM:305000
HP:0011282	Abnormal hindbrain morphology	1736	DKC1	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	5457	POU4F1	ORPHA:314647
HP:0011282	Abnormal hindbrain morphology	23261	CAMTA1	ORPHA:314647
HP:0011282	Abnormal hindbrain morphology	23261	CAMTA1	OMIM:614756
HP:0011282	Abnormal hindbrain morphology	85300	ATCAY	ORPHA:94122
HP:0011282	Abnormal hindbrain morphology	85300	ATCAY	OMIM:601238
HP:0011282	Abnormal hindbrain morphology	57176	VARS2	OMIM:615917
HP:0011282	Abnormal hindbrain morphology	80232	WDR26	ORPHA:513456
HP:0011282	Abnormal hindbrain morphology	5932	RBBP8	OMIM:606744
HP:0011282	Abnormal hindbrain morphology	51506	UFC1	OMIM:618076
HP:0011282	Abnormal hindbrain morphology	10730	YME1L1	OMIM:617302
HP:0011282	Abnormal hindbrain morphology	55780	ERMARD	ORPHA:75857
HP:0011282	Abnormal hindbrain morphology	7015	TERT	OMIM:613989
HP:0011282	Abnormal hindbrain morphology	7015	TERT	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	7015	TERT	OMIM:127550
HP:0011282	Abnormal hindbrain morphology	26277	TINF2	OMIM:613990
HP:0011282	Abnormal hindbrain morphology	26277	TINF2	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	26277	TINF2	OMIM:268130
HP:0011282	Abnormal hindbrain morphology	26277	TINF2	OMIM:127550
HP:0011282	Abnormal hindbrain morphology	1020	CDK5	OMIM:616342
HP:0011282	Abnormal hindbrain morphology	5119	CHMP1A	OMIM:614961
HP:0011282	Abnormal hindbrain morphology	6773	STAT2	OMIM:618886
HP:0011282	Abnormal hindbrain morphology	157680	VPS13B	OMIM:216550
HP:0011282	Abnormal hindbrain morphology	55697	VAC14	ORPHA:3472
HP:0011282	Abnormal hindbrain morphology	57498	KIDINS220	OMIM:619501
HP:0011282	Abnormal hindbrain morphology	5073	PARN	OMIM:616353
HP:0011282	Abnormal hindbrain morphology	5073	PARN	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	23036	ZNF292	OMIM:619188
HP:0011282	Abnormal hindbrain morphology	55154	MSTO1	ORPHA:502423
HP:0011282	Abnormal hindbrain morphology	4247	MGAT2	OMIM:212066
HP:0011282	Abnormal hindbrain morphology	4247	MGAT2	ORPHA:79329
HP:0011282	Abnormal hindbrain morphology	23265	EXOC7	OMIM:619072
HP:0011282	Abnormal hindbrain morphology	1798	DPAGT1	ORPHA:86309
HP:0011282	Abnormal hindbrain morphology	84879	MFSD2A	OMIM:616486
HP:0011282	Abnormal hindbrain morphology	10013	HDAC6	ORPHA:163966
HP:0011282	Abnormal hindbrain morphology	6134	RPL10	ORPHA:459070
HP:0011282	Abnormal hindbrain morphology	6134	RPL10	OMIM:300998
HP:0011282	Abnormal hindbrain morphology	55165	CEP55	OMIM:236500
HP:0011282	Abnormal hindbrain morphology	5605	MAP2K2	OMIM:615280
HP:0011282	Abnormal hindbrain morphology	79813	EHMT1	ORPHA:261652
HP:0011282	Abnormal hindbrain morphology	58508	KMT2C	ORPHA:261652
HP:0011282	Abnormal hindbrain morphology	8818	DPM2	OMIM:615042
HP:0011282	Abnormal hindbrain morphology	8818	DPM2	ORPHA:329178
HP:0011282	Abnormal hindbrain morphology	9474	ATG5	OMIM:617584
HP:0011282	Abnormal hindbrain morphology	51322	WAC	ORPHA:284169
HP:0011282	Abnormal hindbrain morphology	55120	FANCL	OMIM:614083
HP:0011282	Abnormal hindbrain morphology	10735	STAG2	ORPHA:521258
HP:0011282	Abnormal hindbrain morphology	2146	EZH2	OMIM:277590
HP:0011282	Abnormal hindbrain morphology	29929	ALG6	ORPHA:79320
HP:0011282	Abnormal hindbrain morphology	51750	RTEL1	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	51750	RTEL1	OMIM:615190
HP:0011282	Abnormal hindbrain morphology	65057	ACD	ORPHA:3322
HP:0011282	Abnormal hindbrain morphology	65057	ACD	OMIM:616553
HP:0011282	Abnormal hindbrain morphology	79087	ALG12	ORPHA:79324
HP:0011282	Abnormal hindbrain morphology	10533	ATG7	OMIM:619422
HP:0011282	Abnormal hindbrain morphology	6576	SLC25A1	OMIM:615182
HP:0011282	Abnormal hindbrain morphology	51362	CDC40	OMIM:619302
HP:0011282	Abnormal hindbrain morphology	51117	COQ4	OMIM:616276
HP:0011282	Abnormal hindbrain morphology	55656	INTS8	OMIM:618572
HP:0011282	Abnormal hindbrain morphology	30000	TNPO2	OMIM:619556
HP:0011282	Abnormal hindbrain morphology	2187	FANCB	OMIM:300514
HP:0011282	Abnormal hindbrain morphology	2879	GPX4	ORPHA:93317
HP:0011282	Abnormal hindbrain morphology	55593	OTUD5	OMIM:301056
HP:0011282	Abnormal hindbrain morphology	1062	CENPE	OMIM:616051
HP:0011282	Abnormal hindbrain morphology	27185	DISC1	ORPHA:171703
HP:0011282	Abnormal hindbrain morphology	8320	EOMES	ORPHA:171703
HP:0011282	Abnormal hindbrain morphology	7012	TERC	OMIM:127550
HP:0011282	Abnormal hindbrain morphology	7547	ZIC3	OMIM:306955
HP:0011282	Abnormal hindbrain morphology	4784	NFIX	OMIM:602535
HP:0011282	Abnormal hindbrain morphology	4784	NFIX	ORPHA:561
HP:0011282	Abnormal hindbrain morphology	23221	RHOBTB2	OMIM:618004
HP:0011282	Abnormal hindbrain morphology	79641	ROGDI	OMIM:226750
HP:0011282	Abnormal hindbrain morphology	11274	USP18	OMIM:617397
HP:0011282	Abnormal hindbrain morphology	26007	TKFC	OMIM:618805
HP:0011282	Abnormal hindbrain morphology	6821	SUOX	OMIM:272300
HP:0011282	Abnormal hindbrain morphology	4700	NDUFA6	OMIM:618253
HP:0011282	Abnormal hindbrain morphology	3188	HNRNPH2	OMIM:300986
HP:0011282	Abnormal hindbrain morphology	80347	COASY	OMIM:618266
HP:0011282	Abnormal hindbrain morphology	340075	ARSI	ORPHA:401815
HP:0011282	Abnormal hindbrain morphology	57003	CCDC47	OMIM:618268
HP:0011282	Abnormal hindbrain morphology	112858	TP53RK	OMIM:617730
HP:0011282	Abnormal hindbrain morphology	27107	ZBTB11	OMIM:618383
HP:0011282	Abnormal hindbrain morphology	5162	PDHB	ORPHA:255138
HP:0011282	Abnormal hindbrain morphology	4841	NONO	OMIM:300967
HP:0011282	Abnormal hindbrain morphology	4841	NONO	ORPHA:466791
HP:0011282	Abnormal hindbrain morphology	51124	IER3IP1	OMIM:614231
HP:0011282	Abnormal hindbrain morphology	202018	TAPT1	OMIM:616897
HP:0011282	Abnormal hindbrain morphology	7291	TWIST1	OMIM:617746
HP:0011282	Abnormal hindbrain morphology	100506658	OCLN	OMIM:251290
HP:0011282	Abnormal hindbrain morphology	93587	TRMT10A	ORPHA:391408
HP:0011282	Abnormal hindbrain morphology	84919	PPP1R15B	ORPHA:391408
HP:0011282	Abnormal hindbrain morphology	259266	ASPM	OMIM:608716
HP:0011282	Abnormal hindbrain morphology	1719	DHFR	OMIM:613839
HP:0011282	Abnormal hindbrain morphology	55074	OXR1	OMIM:213000
HP:0011282	Abnormal hindbrain morphology	57647	DHX37	OMIM:618731
HP:0011282	Abnormal hindbrain morphology	18	ABAT	OMIM:613163
HP:0011282	Abnormal hindbrain morphology	1496	CTNNA2	OMIM:618174
HP:0011282	Abnormal hindbrain morphology	498	ATP5F1A	OMIM:615228
HP:0011282	Abnormal hindbrain morphology	4953	ODC1	OMIM:619075
HP:0011282	Abnormal hindbrain morphology	9851	KIAA0753	OMIM:619479
HP:0011282	Abnormal hindbrain morphology	5879	RAC1	OMIM:617751
HP:0011282	Abnormal hindbrain morphology	64840	PORCN	OMIM:305600
HP:0011282	Abnormal hindbrain morphology	2294	FOXF1	OMIM:265380
HP:0011282	Abnormal hindbrain morphology	5251	PHEX	ORPHA:89936
HP:0011282	Abnormal hindbrain morphology	5447	POR	OMIM:201750
HP:0011282	Abnormal hindbrain morphology	5447	POR	ORPHA:95699
HP:0011282	Abnormal hindbrain morphology	6309	SC5D	ORPHA:46059
HP:0011282	Abnormal hindbrain morphology	6309	SC5D	OMIM:607330
HP:0011282	Abnormal hindbrain morphology	3590	IL11RA	OMIM:614188
HP:0011282	Abnormal hindbrain morphology	4659	PPP1R12A	OMIM:618820
HP:0011282	Abnormal hindbrain morphology	6804	STX1A	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	7461	CLIP2	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	84277	DNAJC30	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	8468	FKBP6	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	5982	RFC2	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	2969	GTF2I	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	3984	LIMK1	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	9569	GTF2IRD1	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	155382	VPS37D	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	155368	METTL27	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	114049	BUD23	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	7458	EIF4H	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	84163	GTF2IRD2	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	9275	BCL7B	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	26608	TBL2	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	653361	NCF1	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	135886	TMEM270	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	51085	MLXIPL	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	9031	BAZ1B	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	2006	ELN	ORPHA:904
HP:0011282	Abnormal hindbrain morphology	22800	RRAS2	OMIM:618624
HP:0011282	Abnormal hindbrain morphology	10992	SF3B2	OMIM:164210
HP:0011282	Abnormal hindbrain morphology	1788	DNMT3A	ORPHA:404443
HP:0011282	Abnormal hindbrain morphology	11128	POLR3A	OMIM:264090
HP:0011282	Abnormal hindbrain morphology	4796	TONSL	ORPHA:93357
HP:0011282	Abnormal hindbrain morphology	4796	TONSL	OMIM:271510
HP:0011282	Abnormal hindbrain morphology	81839	VANGL1	ORPHA:3027
HP:0011282	Abnormal hindbrain morphology	80199	FUZ	ORPHA:3027
HP:0011282	Abnormal hindbrain morphology	5745	PTH1R	OMIM:600002
HP:0011282	Abnormal hindbrain morphology	4125	MAN2B1	ORPHA:309282
HP:0011282	Abnormal hindbrain morphology	79718	TBL1XR1	OMIM:602342
HP:0011282	Abnormal hindbrain morphology	79718	TBL1XR1	ORPHA:487825
HP:0011282	Abnormal hindbrain morphology	1387	CREBBP	ORPHA:353281
HP:0011282	Abnormal hindbrain morphology	1387	CREBBP	ORPHA:353277
HP:0011282	Abnormal hindbrain morphology	29998	BICRA	OMIM:619325
HP:0011282	Abnormal hindbrain morphology	55159	RFWD3	OMIM:617784
HP:0011282	Abnormal hindbrain morphology	55215	FANCI	OMIM:609053
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	OMIM:123790
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	ORPHA:87
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	ORPHA:93260
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	ORPHA:207
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	ORPHA:93259
HP:0011282	Abnormal hindbrain morphology	2263	FGFR2	OMIM:101600
HP:0011282	Abnormal hindbrain morphology	2033	EP300	ORPHA:353284
HP:0011282	Abnormal hindbrain morphology	6299	SALL1	ORPHA:857
HP:0011282	Abnormal hindbrain morphology	51339	DACT1	ORPHA:857
HP:0011282	Abnormal hindbrain morphology	23387	SIK3	OMIM:618162
HP:0011282	Abnormal hindbrain morphology	6651	SON	ORPHA:500150
HP:0011282	Abnormal hindbrain morphology	1108	CHD4	OMIM:617159
HP:0011282	Abnormal hindbrain morphology	7048	TGFBR2	OMIM:610168
HP:0011282	Abnormal hindbrain morphology	2077	ERF	ORPHA:207
HP:0011282	Abnormal hindbrain morphology	2316	FLNA	ORPHA:1826
HP:0011282	Abnormal hindbrain morphology	6885	MAP3K7	ORPHA:1826
HP:0011282	Abnormal hindbrain morphology	2776	GNAQ	ORPHA:3205
HP:0011282	Abnormal hindbrain morphology	1513	CTSK	ORPHA:763
HP:0011282	Abnormal hindbrain morphology	9401	RECQL4	OMIM:218600
HP:0011282	Abnormal hindbrain morphology	8091	HMGA2	ORPHA:94063
HP:0011282	Abnormal hindbrain morphology	23592	LEMD3	ORPHA:94063
HP:0011282	Abnormal hindbrain morphology	54903	MKS1	OMIM:249000
HP:0011282	Abnormal hindbrain morphology	4854	NOTCH3	ORPHA:2789
HP:0011282	Abnormal hindbrain morphology	7046	TGFBR1	OMIM:609192
HP:0011282	Abnormal hindbrain morphology	2200	FBN1	ORPHA:2462
HP:0011282	Abnormal hindbrain morphology	6497	SKI	ORPHA:2462
HP:0011282	Abnormal hindbrain morphology	4853	NOTCH2	ORPHA:955
HP:0011282	Abnormal hindbrain morphology	4644	MYO5A	ORPHA:33445
HP:0011282	Abnormal hindbrain morphology	51763	INPP5K	ORPHA:559
HP:0011282	Abnormal hindbrain morphology	4208	MEF2C	ORPHA:228384
HP:0011282	Abnormal hindbrain morphology	60529	ALX4	OMIM:613451
HP:0011282	Abnormal hindbrain morphology	60529	ALX4	ORPHA:228390
HP:0011282	Abnormal hindbrain morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011282	Abnormal hindbrain morphology	80184	CEP290	OMIM:611134
HP:0011282	Abnormal hindbrain morphology	80184	CEP290	OMIM:610188
HP:0011282	Abnormal hindbrain morphology	3839	KPNA3	OMIM:620106
HP:0011282	Abnormal hindbrain morphology	65062	TMEM237	OMIM:614424
HP:0011282	Abnormal hindbrain morphology	256297	PTF1A	OMIM:609069
HP:0011282	Abnormal hindbrain morphology	9839	ZEB2	ORPHA:261537
HP:0011282	Abnormal hindbrain morphology	9839	ZEB2	ORPHA:261552
HP:0011282	Abnormal hindbrain morphology	7020	TFAP2A	OMIM:113620
HP:0011282	Abnormal hindbrain morphology	11041	B4GAT1	OMIM:615287
HP:0011282	Abnormal hindbrain morphology	5147	PDE6D	OMIM:615665
HP:0011282	Abnormal hindbrain morphology	9928	KIF14	OMIM:616258
HP:0011282	Abnormal hindbrain morphology	4598	MVK	OMIM:610377
HP:0011282	Abnormal hindbrain morphology	26123	TCTN3	OMIM:614815
HP:0011282	Abnormal hindbrain morphology	79659	DYNC2H1	OMIM:613091
HP:0011282	Abnormal hindbrain morphology	1281	COL3A1	OMIM:618343
HP:0011282	Abnormal hindbrain morphology	79042	TSEN34	ORPHA:2524
HP:0011282	Abnormal hindbrain morphology	80746	TSEN2	ORPHA:2524
HP:0011282	Abnormal hindbrain morphology	51091	SEPSECS	ORPHA:2524
HP:0011282	Abnormal hindbrain morphology	8481	OFD1	OMIM:311200
HP:0011282	Abnormal hindbrain morphology	729920	CRPPA	ORPHA:370980
HP:0011282	Abnormal hindbrain morphology	9361	LONP1	ORPHA:79243
HP:0011282	Abnormal hindbrain morphology	5160	PDHA1	ORPHA:79243
HP:0011282	Abnormal hindbrain morphology	4519	MT-CYB	ORPHA:137675
HP:0011282	Abnormal hindbrain morphology	1161	ERCC8	ORPHA:90324
HP:0011282	Abnormal hindbrain morphology	727676	SNORD118	ORPHA:542310
HP:0011282	Abnormal hindbrain morphology	6575	SLC20A2	OMIM:213600
HP:0011282	Abnormal hindbrain morphology	5155	PDGFB	OMIM:213600
HP:0011282	Abnormal hindbrain morphology	5159	PDGFRB	OMIM:213600
HP:0011282	Abnormal hindbrain morphology	54902	TTC19	OMIM:615157
HP:0011282	Abnormal hindbrain morphology	51360	MBTPS2	OMIM:308205
HP:0011282	Abnormal hindbrain morphology	2074	ERCC6	OMIM:278800
HP:0011282	Abnormal hindbrain morphology	27235	COQ2	OMIM:146500
HP:0011282	Abnormal hindbrain morphology	6310	ATXN1	OMIM:164400
HP:0011282	Abnormal hindbrain morphology	6314	ATXN7	OMIM:164500
HP:0011282	Abnormal hindbrain morphology	6311	ATXN2	OMIM:183090
HP:0011282	Abnormal hindbrain morphology	25782	RAB3GAP2	ORPHA:401830
HP:0011282	Abnormal hindbrain morphology	4281	MID1	ORPHA:2745
HP:0011282	Abnormal hindbrain morphology	95	ACY1	ORPHA:137754
HP:0011282	Abnormal hindbrain morphology	3769	KCNJ13	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	343035	RD3	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	145226	RDH12	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	1406	CRX	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	64802	NMNAT1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	57096	RPGRIP1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	10383	TUBB4B	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	9742	IFT140	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	85015	USP45	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	6121	RPE65	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	23418	CRB1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	5130	PCYT1A	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	9657	IQCB1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	392255	GDF6	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	23746	AIPL1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	3000	GUCY2D	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	9227	LRAT	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	55812	SPATA7	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	7287	TULP1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	167691	LCA5	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	3614	IMPDH1	ORPHA:65
HP:0011282	Abnormal hindbrain morphology	80055	PGAP1	ORPHA:401820
HP:0011282	Abnormal hindbrain morphology	8450	CUL4B	OMIM:300354
HP:0011282	Abnormal hindbrain morphology	375	ARF1	OMIM:618185
HP:0011282	Abnormal hindbrain morphology	9698	PUM1	OMIM:617931
HP:0011282	Abnormal hindbrain morphology	4311	MME	OMIM:617018
HP:0011282	Abnormal hindbrain morphology	4311	MME	ORPHA:497764
HP:0011282	Abnormal hindbrain morphology	9254	CACNA2D2	OMIM:618501
HP:0011282	Abnormal hindbrain morphology	26047	CNTNAP2	ORPHA:163681
HP:0011282	Abnormal hindbrain morphology	5859	QARS1	OMIM:615760
HP:0011282	Abnormal hindbrain morphology	53335	BCL11A	OMIM:617101
HP:0011282	Abnormal hindbrain morphology	1742	DLG4	OMIM:618793
HP:0011282	Abnormal hindbrain morphology	4010	LMX1B	ORPHA:495818
HP:0011282	Abnormal hindbrain morphology	6812	STXBP1	ORPHA:495818
HP:0011282	Abnormal hindbrain morphology	11261	CHP1	OMIM:618438
HP:0011282	Abnormal hindbrain morphology	5354	PLP1	OMIM:312080
HP:0011282	Abnormal hindbrain morphology	116228	COX20	OMIM:619054
HP:0011282	Abnormal hindbrain morphology	7518	XRCC4	OMIM:616541
HP:0011282	Abnormal hindbrain morphology	57410	SCYL1	ORPHA:466794
HP:0011282	Abnormal hindbrain morphology	57410	SCYL1	OMIM:616719
HP:0011282	Abnormal hindbrain morphology	6095	RORA	OMIM:618060
HP:0011282	Abnormal hindbrain morphology	1213	CLTC	OMIM:617854
HP:0011282	Abnormal hindbrain morphology	440193	CCDC88C	OMIM:616053
HP:0011282	Abnormal hindbrain morphology	440193	CCDC88C	ORPHA:423275
HP:0011282	Abnormal hindbrain morphology	3908	LAMA2	ORPHA:258
HP:0011282	Abnormal hindbrain morphology	7428	VHL	ORPHA:892
HP:0011282	Abnormal hindbrain morphology	7428	VHL	OMIM:193300
HP:0011282	Abnormal hindbrain morphology	595	CCND1	ORPHA:892
HP:0011282	Abnormal hindbrain morphology	595	CCND1	OMIM:193300
HP:0011282	Abnormal hindbrain morphology	4983	OPHN1	OMIM:300486
HP:0011282	Abnormal hindbrain morphology	4983	OPHN1	ORPHA:137831
HP:0011282	Abnormal hindbrain morphology	2892	GRIA3	ORPHA:364028
HP:0011282	Abnormal hindbrain morphology	160418	TMTC3	OMIM:617255
HP:0011282	Abnormal hindbrain morphology	27245	AHDC1	ORPHA:412069
HP:0011282	Abnormal hindbrain morphology	27245	AHDC1	OMIM:615829
HP:0011282	Abnormal hindbrain morphology	2911	GRM1	OMIM:614831
HP:0011282	Abnormal hindbrain morphology	57688	ZSWIM6	ORPHA:1827
HP:0011282	Abnormal hindbrain morphology	57688	ZSWIM6	OMIM:603671
HP:0011282	Abnormal hindbrain morphology	57572	DOCK6	OMIM:614219
HP:0011282	Abnormal hindbrain morphology	5518	PPP2R1A	ORPHA:457284
HP:0011282	Abnormal hindbrain morphology	10528	NOP56	ORPHA:276198
HP:0011282	Abnormal hindbrain morphology	8913	CACNA1G	OMIM:616795
HP:0011282	Abnormal hindbrain morphology	29899	GPSM2	OMIM:604213
HP:0011282	Abnormal hindbrain morphology	10367	MICU1	OMIM:615673
HP:0011282	Abnormal hindbrain morphology	998	CDC42	ORPHA:487796
HP:0011282	Abnormal hindbrain morphology	27286	SRPX2	ORPHA:98889
HP:0011282	Abnormal hindbrain morphology	10329	RXYLT1	OMIM:615041
HP:0011282	Abnormal hindbrain morphology	84162	BLTP1	OMIM:617822
HP:0011282	Abnormal hindbrain morphology	57187	THOC2	ORPHA:457240
HP:0011282	Abnormal hindbrain morphology	9382	COG1	ORPHA:263508
HP:0011282	Abnormal hindbrain morphology	124997	WDR81	OMIM:610185
HP:0011282	Abnormal hindbrain morphology	1822	ATN1	OMIM:125370
HP:0011282	Abnormal hindbrain morphology	63895	PIEZO2	OMIM:248700
HP:0011282	Abnormal hindbrain morphology	3897	L1CAM	OMIM:304100
HP:0011282	Abnormal hindbrain morphology	652	BMP4	OMIM:607932
HP:0011282	Abnormal hindbrain morphology	652	BMP4	ORPHA:139471
HP:0011282	Abnormal hindbrain morphology	83696	TRAPPC9	OMIM:613192
HP:0011282	Abnormal hindbrain morphology	80816	ASXL3	OMIM:615485
HP:0011282	Abnormal hindbrain morphology	26173	INTS1	OMIM:618571
HP:0011282	Abnormal hindbrain morphology	50628	GEMIN4	OMIM:617913
HP:0011282	Abnormal hindbrain morphology	6608	SMO	OMIM:601707
HP:0011282	Abnormal hindbrain morphology	6608	SMO	OMIM:241800
HP:0011282	Abnormal hindbrain morphology	4774	NFIA	OMIM:613735
HP:0011282	Abnormal hindbrain morphology	4774	NFIA	ORPHA:401986
HP:0011282	Abnormal hindbrain morphology	80036	TRPM3	OMIM:620224
HP:0011282	Abnormal hindbrain morphology	10283	CWC27	ORPHA:166035
HP:0011282	Abnormal hindbrain morphology	284058	KANSL1	ORPHA:363965
HP:0011282	Abnormal hindbrain morphology	284058	KANSL1	ORPHA:363958
HP:0011282	Abnormal hindbrain morphology	4094	MAF	ORPHA:1272
HP:0011282	Abnormal hindbrain morphology	4094	MAF	OMIM:601088
HP:0011282	Abnormal hindbrain morphology	8318	CDC45	OMIM:617063
HP:0011282	Abnormal hindbrain morphology	9772	TMEM94	OMIM:618316
HP:0011282	Abnormal hindbrain morphology	57551	TAOK1	OMIM:619575
HP:0011282	Abnormal hindbrain morphology	10274	STAG1	OMIM:617635
HP:0011282	Abnormal hindbrain morphology	4791	NFKB2	OMIM:615577
HP:0011282	Abnormal hindbrain morphology	22943	DKK1	ORPHA:268882
HP:0011282	Abnormal hindbrain morphology	79947	DHDDS	OMIM:617836
HP:0011282	Abnormal hindbrain morphology	5076	PAX2	OMIM:120330
HP:0011282	Abnormal hindbrain morphology	25970	SH2B1	ORPHA:261197
HP:0011282	Abnormal hindbrain morphology	5888	RAD51	OMIM:617244
HP:0011282	Abnormal hindbrain morphology	4858	NOVA2	OMIM:618859
HP:0011282	Abnormal hindbrain morphology	161742	SPRED1	ORPHA:137605
HP:0011282	Abnormal hindbrain morphology	26040	SETBP1	ORPHA:798
HP:0011282	Abnormal hindbrain morphology	5190	PEX6	ORPHA:95433
HP:0011282	Abnormal hindbrain morphology	58494	JAM2	OMIM:618824
HP:0011282	Abnormal hindbrain morphology	11277	TREX1	OMIM:225750
HP:0011282	Abnormal hindbrain morphology	23476	BRD4	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	9126	SMC3	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	8243	SMC1A	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	25836	NIPBL	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	55869	HDAC8	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	5885	RAD21	ORPHA:199
HP:0011282	Abnormal hindbrain morphology	5396	PRRX1	ORPHA:990
HP:0011282	Abnormal hindbrain morphology	5015	OTX2	ORPHA:990
HP:0011282	Abnormal hindbrain morphology	5015	OTX2	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	7399	USH2A	ORPHA:231178
HP:0011282	Abnormal hindbrain morphology	79955	PDZD7	ORPHA:231178
HP:0011282	Abnormal hindbrain morphology	4647	MYO7A	ORPHA:231178
HP:0011282	Abnormal hindbrain morphology	4647	MYO7A	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	25861	WHRN	ORPHA:231178
HP:0011282	Abnormal hindbrain morphology	84059	ADGRV1	ORPHA:231178
HP:0011282	Abnormal hindbrain morphology	27238	GPKOW	ORPHA:2570
HP:0011282	Abnormal hindbrain morphology	6197	RPS6KA3	ORPHA:192
HP:0011282	Abnormal hindbrain morphology	3265	HRAS	ORPHA:2612
HP:0011282	Abnormal hindbrain morphology	3845	KRAS	ORPHA:2612
HP:0011282	Abnormal hindbrain morphology	4893	NRAS	ORPHA:2612
HP:0011282	Abnormal hindbrain morphology	5290	PIK3CA	ORPHA:60040
HP:0011282	Abnormal hindbrain morphology	8239	USP9X	ORPHA:480880
HP:0011282	Abnormal hindbrain morphology	4567	MT-TL1	ORPHA:225
HP:0011282	Abnormal hindbrain morphology	4556	MT-TE	ORPHA:225
HP:0011282	Abnormal hindbrain morphology	4566	MT-TK	ORPHA:225
HP:0011282	Abnormal hindbrain morphology	2218	FKTN	ORPHA:588
HP:0011282	Abnormal hindbrain morphology	8905	AP1S2	ORPHA:1568
HP:0011282	Abnormal hindbrain morphology	2737	GLI3	ORPHA:36
HP:0011282	Abnormal hindbrain morphology	374654	KIF7	ORPHA:36
HP:0011282	Abnormal hindbrain morphology	22858	CILK1	OMIM:612651
HP:0011282	Abnormal hindbrain morphology	9640	ZNF592	ORPHA:83472
HP:0011282	Abnormal hindbrain morphology	84942	WDR73	ORPHA:83472
HP:0011282	Abnormal hindbrain morphology	1717	DHCR7	ORPHA:818
HP:0011282	Abnormal hindbrain morphology	55636	CHD7	ORPHA:138
HP:0011282	Abnormal hindbrain morphology	9723	SEMA3E	ORPHA:138
HP:0011282	Abnormal hindbrain morphology	387119	CEP85L	ORPHA:572013
HP:0011282	Abnormal hindbrain morphology	389827	MYMK	ORPHA:1358
HP:0011282	Abnormal hindbrain morphology	101929726	MYMX	ORPHA:1358
HP:0011282	Abnormal hindbrain morphology	2261	FGFR3	ORPHA:93262
HP:0011282	Abnormal hindbrain morphology	10479	SLC9A6	ORPHA:85278
HP:0011282	Abnormal hindbrain morphology	2068	ERCC2	ORPHA:1466
HP:0011282	Abnormal hindbrain morphology	2067	ERCC1	ORPHA:1466
HP:0011282	Abnormal hindbrain morphology	2073	ERCC5	ORPHA:1466
HP:0011282	Abnormal hindbrain morphology	85378	TUBGCP6	ORPHA:2518
HP:0011282	Abnormal hindbrain morphology	27229	TUBGCP4	ORPHA:2518
HP:0011282	Abnormal hindbrain morphology	4693	NDP	ORPHA:649
HP:0011282	Abnormal hindbrain morphology	2697	GJA1	ORPHA:2710
HP:0011282	Abnormal hindbrain morphology	9897	WASHC5	ORPHA:7
HP:0011282	Abnormal hindbrain morphology	28952	CCDC22	ORPHA:7
HP:0011282	Abnormal hindbrain morphology	64072	CDH23	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	10083	USH1C	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	124590	USH1G	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	83715	ESPN	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	10518	CIB2	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	65217	PCDH15	ORPHA:231169
HP:0011282	Abnormal hindbrain morphology	4524	MTHFR	ORPHA:563612
HP:0011282	Abnormal hindbrain morphology	57216	VANGL2	ORPHA:563612
HP:0011282	Abnormal hindbrain morphology	10815	CPLX1	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	54872	PIGG	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	7469	NELFA	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	1487	CTBP1	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	3954	LETM1	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	7468	NSD2	ORPHA:280
HP:0011282	Abnormal hindbrain morphology	9184	BUB3	ORPHA:1052
HP:0011282	Abnormal hindbrain morphology	699	BUB1	ORPHA:1052
HP:0011282	Abnormal hindbrain morphology	9702	CEP57	ORPHA:1052
HP:0011282	Abnormal hindbrain morphology	9319	TRIP13	ORPHA:1052
HP:0011282	Abnormal hindbrain morphology	701	BUB1B	ORPHA:1052
HP:0011282	Abnormal hindbrain morphology	23322	RPGRIP1L	ORPHA:1454
HP:0011282	Abnormal hindbrain morphology	57545	CC2D2A	ORPHA:1454
HP:0011282	Abnormal hindbrain morphology	219285	SAMD9L	ORPHA:2585
HP:0011282	Abnormal hindbrain morphology	2260	FGFR1	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	128674	PROKR2	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	6657	SOX2	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	6658	SOX3	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	9915	ARNT2	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	8820	HESX1	ORPHA:3157
HP:0011282	Abnormal hindbrain morphology	4668	NAGA	ORPHA:79279
HP:0011282	Abnormal hindbrain morphology	79944	L2HGDH	ORPHA:79314
HP:0011282	Abnormal hindbrain morphology	5277	PIGA	OMIM:300868
HP:0011282	Abnormal hindbrain morphology	2581	GALC	ORPHA:206448
HP:0011282	Abnormal hindbrain morphology	1605	DAG1	ORPHA:370997
HP:0011282	Abnormal hindbrain morphology	3417	IDH1	ORPHA:99646
HP:0011282	Abnormal hindbrain morphology	9373	PLAA	ORPHA:521426
HP:0011282	Abnormal hindbrain morphology	8882	ZPR1	OMIM:619321
HP:0011282	Abnormal hindbrain morphology	85358	SHANK3	ORPHA:48652
HP:0011282	Abnormal hindbrain morphology	1593	CYP27A1	ORPHA:909
HP:0011282	Abnormal hindbrain morphology	26278	SACS	ORPHA:98
HP:0011282	Abnormal hindbrain morphology	4001	LMNB1	ORPHA:99027
HP:0011282	Abnormal hindbrain morphology	2313	FLI1	ORPHA:370348
HP:0011282	Abnormal hindbrain morphology	54806	AHI1	OMIM:608629
HP:0011282	Abnormal hindbrain morphology	79848	CSPP1	ORPHA:397715
HP:0011282	Abnormal hindbrain morphology	79848	CSPP1	OMIM:615636
HP:0011282	Abnormal hindbrain morphology	9786	KIAA0586	ORPHA:397715
HP:0011282	Abnormal hindbrain morphology	403	ARL3	OMIM:618161
HP:0011282	Abnormal hindbrain morphology	284217	LAMA1	ORPHA:370022
HP:0011282	Abnormal hindbrain morphology	51259	TMEM216	OMIM:608091
HP:0011282	Abnormal hindbrain morphology	56623	INPP5E	OMIM:213300
HP:0011282	Abnormal hindbrain morphology	91147	TMEM67	OMIM:610688
HP:0011282	Abnormal hindbrain morphology	1182	CLCN3	OMIM:619512
HP:0011282	Abnormal hindbrain morphology	4867	NPHP1	OMIM:609583
HP:0011282	Abnormal hindbrain morphology	10015	PDCD6IP	OMIM:620047
HP:0011282	Abnormal hindbrain morphology	23028	KDM1A	ORPHA:477993
HP:0011282	Abnormal hindbrain morphology	29925	GMPPB	OMIM:615350
HP:0011282	Abnormal hindbrain morphology	29925	GMPPB	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	55773	TBC1D23	OMIM:617695
HP:0011282	Abnormal hindbrain morphology	94005	PIGS	OMIM:618143
HP:0011282	Abnormal hindbrain morphology	2972	BRF1	OMIM:616202
HP:0011282	Abnormal hindbrain morphology	2972	BRF1	ORPHA:444072
HP:0011282	Abnormal hindbrain morphology	8573	CASK	OMIM:300749
HP:0011282	Abnormal hindbrain morphology	11340	EXOSC8	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	5393	EXOSC9	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	23287	AGTPBP1	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	23287	AGTPBP1	OMIM:618276
HP:0011282	Abnormal hindbrain morphology	51010	EXOSC3	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	7443	VRK1	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	7443	VRK1	OMIM:607596
HP:0011282	Abnormal hindbrain morphology	91137	SLC25A46	ORPHA:2254
HP:0011282	Abnormal hindbrain morphology	91137	SLC25A46	OMIM:619303
HP:0011282	Abnormal hindbrain morphology	85440	DOCK7	ORPHA:411986
HP:0011282	Abnormal hindbrain morphology	85440	DOCK7	OMIM:615859
HP:0011282	Abnormal hindbrain morphology	25914	RTTN	ORPHA:468631
HP:0011282	Abnormal hindbrain morphology	5649	RELN	OMIM:257320
HP:0011282	Abnormal hindbrain morphology	23126	POGZ	ORPHA:468678
HP:0011282	Abnormal hindbrain morphology	9289	ADGRG1	ORPHA:101070
HP:0011282	Abnormal hindbrain morphology	9289	ADGRG1	OMIM:606854
HP:0011282	Abnormal hindbrain morphology	5728	PTEN	ORPHA:101070
HP:0011282	Abnormal hindbrain morphology	724066	ATXN8	ORPHA:98760
HP:0011282	Abnormal hindbrain morphology	6315	ATXN8OS	ORPHA:98760
HP:0011282	Abnormal hindbrain morphology	79147	FKRP	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	79147	FKRP	OMIM:613153
HP:0011282	Abnormal hindbrain morphology	29954	POMT2	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	84197	POMK	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	55624	POMGNT1	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	55624	POMGNT1	OMIM:613151
HP:0011282	Abnormal hindbrain morphology	10585	POMT1	ORPHA:370959
HP:0011282	Abnormal hindbrain morphology	10733	PLK4	OMIM:616171
HP:0011282	Abnormal hindbrain morphology	51112	TRAPPC12	ORPHA:500144
HP:0011282	Abnormal hindbrain morphology	51112	TRAPPC12	OMIM:617669
HP:0011282	Abnormal hindbrain morphology	283989	TSEN54	OMIM:225753
HP:0011282	Abnormal hindbrain morphology	283989	TSEN54	OMIM:277470
HP:0011282	Abnormal hindbrain morphology	116461	TSEN15	OMIM:617026
HP:0011282	Abnormal hindbrain morphology	1630	DCC	OMIM:617542
HP:0011282	Abnormal hindbrain morphology	28514	DLL1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	2253	FGF8	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	6496	SIX3	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	7050	TGIF1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	4838	NODAL	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	6469	SHH	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	7546	ZIC2	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	6491	STIL	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	2619	GAS1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	84976	DISP1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	2736	GLI2	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	8928	FOXH1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	5727	PTCH1	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	50937	CDON	ORPHA:280195
HP:0011282	Abnormal hindbrain morphology	473	RERE	OMIM:616975
HP:0011282	Abnormal hindbrain morphology	4190	MDH1	OMIM:618959
HP:0011282	Abnormal hindbrain morphology	10297	APC2	OMIM:618677
HP:0011282	Abnormal hindbrain morphology	4081	MAB21L1	OMIM:618479
HP:0011282	Abnormal hindbrain morphology	9562	MINPP1	OMIM:619527
HP:0011282	Abnormal hindbrain morphology	29072	SETD2	OMIM:620157
HP:0011282	Abnormal hindbrain morphology	29072	SETD2	OMIM:620155
HP:0011282	Abnormal hindbrain morphology	64221	ROBO3	OMIM:607313
HP:0011282	Abnormal hindbrain morphology	271	AMPD2	OMIM:615809
HP:0011282	Abnormal hindbrain morphology	57231	SNX14	ORPHA:397709
HP:0011282	Abnormal hindbrain morphology	6595	SMARCA2	OMIM:619293
HP:0011282	Abnormal hindbrain morphology	347733	TUBB2B	ORPHA:467166
HP:0011282	Abnormal hindbrain morphology	347733	TUBB2B	ORPHA:300573
HP:0011282	Abnormal hindbrain morphology	7846	TUBA1A	ORPHA:467166
HP:0011282	Abnormal hindbrain morphology	10381	TUBB3	ORPHA:467166
HP:0011282	Abnormal hindbrain morphology	440	ASNS	OMIM:615574
HP:0011282	Abnormal hindbrain morphology	9215	LARGE1	OMIM:613154
HP:0011282	Abnormal hindbrain morphology	10273	STUB1	ORPHA:412057
HP:0011282	Abnormal hindbrain morphology	738	VPS51	OMIM:618606
HP:0011282	Abnormal hindbrain morphology	23499	MACF1	OMIM:618325
HP:0011282	Abnormal hindbrain morphology	9439	MED23	OMIM:614249
HP:0011282	Abnormal hindbrain morphology	114034	TOE1	OMIM:614969
HP:0011282	Abnormal hindbrain morphology	10195	ALG3	ORPHA:79321
HP:0011282	Abnormal hindbrain morphology	148789	B3GALNT2	OMIM:615181
HP:0011282	Abnormal hindbrain morphology	191	AHCY	ORPHA:88618
HP:0011282	Abnormal hindbrain morphology	51645	PPIL1	OMIM:619301
HP:0011282	Abnormal hindbrain morphology	8884	SLC5A6	OMIM:618973
HP:0011282	Abnormal hindbrain morphology	92935	MARS2	OMIM:616430
HP:0011282	Abnormal hindbrain morphology	7471	WNT1	OMIM:615220
HP:0011282	Abnormal hindbrain morphology	7545	ZIC1	OMIM:618736
HP:0011282	Abnormal hindbrain morphology	10243	GPHN	OMIM:615501
HP:0011282	Abnormal hindbrain morphology	9181	ARHGEF2	OMIM:617523
HP:0011282	Abnormal hindbrain morphology	51013	EXOSC1	OMIM:619304
HP:0011282	Abnormal hindbrain morphology	7319	UBE2A	ORPHA:163956
HP:0011282	Abnormal hindbrain morphology	57724	EPG5	ORPHA:1493
HP:0011282	Abnormal hindbrain morphology	27445	PCLO	OMIM:608027
HP:0011282	Abnormal hindbrain morphology	5297	PI4KA	OMIM:619708
HP:0011282	Abnormal hindbrain morphology	59336	PRDM13	OMIM:619909
HP:0011282	Abnormal hindbrain morphology	2019	EN1	OMIM:619218
HP:0011282	Abnormal hindbrain morphology	8398	PLA2G6	ORPHA:35069
HP:0011282	Abnormal hindbrain morphology	84667	HES7	OMIM:613686
HP:0011282	Abnormal hindbrain morphology	128240	NAXE	OMIM:617186
HP:0011282	Abnormal hindbrain morphology	87178	PNPT1	ORPHA:101111
HP:0011282	Abnormal hindbrain morphology	5428	POLG	ORPHA:70595
HP:0011282	Abnormal hindbrain morphology	56652	TWNK	ORPHA:70595
HP:0011282	Abnormal hindbrain morphology	526	ATP6V1B2	ORPHA:79500
HP:0011282	Abnormal hindbrain morphology	57465	TBC1D24	ORPHA:79500
HP:0011282	Abnormal hindbrain morphology	55770	EXOC2	OMIM:619306
HP:0011282	Abnormal hindbrain morphology	686	BTD	OMIM:253260
HP:0011282	Abnormal hindbrain morphology	819	CAMLG	OMIM:620201
HP:0011282	Abnormal hindbrain morphology	404672	GTF2H5	ORPHA:33364
HP:0011282	Abnormal hindbrain morphology	7737	RNF113A	ORPHA:33364
HP:0011282	Abnormal hindbrain morphology	136647	MPLKIP	ORPHA:33364
HP:0011282	Abnormal hindbrain morphology	6897	TARS1	ORPHA:33364
HP:0011282	Abnormal hindbrain morphology	2961	GTF2E2	ORPHA:33364
HP:0011282	Abnormal hindbrain morphology	3912	LAMB1	OMIM:615191
HP:0011282	Abnormal hindbrain morphology	1356	CP	ORPHA:48818
HP:0011282	Abnormal hindbrain morphology	2512	FTL	ORPHA:157846
HP:0011282	Abnormal hindbrain morphology	100144748	KLLN	OMIM:615107
HP:0011283	Abnormal metencephalon morphology	10749	KIF1C	ORPHA:397946
HP:0011283	Abnormal metencephalon morphology	10749	KIF1C	OMIM:611302
HP:0011283	Abnormal metencephalon morphology	4287	ATXN3	OMIM:109150
HP:0011283	Abnormal metencephalon morphology	4287	ATXN3	ORPHA:276238
HP:0011283	Abnormal metencephalon morphology	4287	ATXN3	ORPHA:276244
HP:0011283	Abnormal metencephalon morphology	4287	ATXN3	ORPHA:276241
HP:0011283	Abnormal metencephalon morphology	23646	PLD3	OMIM:617770
HP:0011283	Abnormal metencephalon morphology	55703	POLR3B	OMIM:614381
HP:0011283	Abnormal metencephalon morphology	55703	POLR3B	OMIM:619742
HP:0011283	Abnormal metencephalon morphology	55703	POLR3B	OMIM:607694
HP:0011283	Abnormal metencephalon morphology	26235	FBXL4	OMIM:615471
HP:0011283	Abnormal metencephalon morphology	4099	MAG	OMIM:616680
HP:0011283	Abnormal metencephalon morphology	51399	TRAPPC4	OMIM:618741
HP:0011283	Abnormal metencephalon morphology	3703	STT3A	OMIM:615596
HP:0011283	Abnormal metencephalon morphology	3703	STT3A	ORPHA:370921
HP:0011283	Abnormal metencephalon morphology	55823	VPS11	OMIM:616683
HP:0011283	Abnormal metencephalon morphology	55823	VPS11	ORPHA:466934
HP:0011283	Abnormal metencephalon morphology	51569	UFM1	OMIM:617899
HP:0011283	Abnormal metencephalon morphology	23446	SLC44A1	OMIM:618868
HP:0011283	Abnormal metencephalon morphology	2895	GRID2	OMIM:616204
HP:0011283	Abnormal metencephalon morphology	6659	SOX4	OMIM:618506
HP:0011283	Abnormal metencephalon morphology	201595	STT3B	OMIM:615597
HP:0011283	Abnormal metencephalon morphology	201595	STT3B	ORPHA:370924
HP:0011283	Abnormal metencephalon morphology	60684	TRAPPC11	OMIM:615356
HP:0011283	Abnormal metencephalon morphology	100996717	NOTCH2NLC	OMIM:618866
HP:0011283	Abnormal metencephalon morphology	81570	CLPB	OMIM:619835
HP:0011283	Abnormal metencephalon morphology	81570	CLPB	OMIM:616271
HP:0011283	Abnormal metencephalon morphology	81570	CLPB	ORPHA:445038
HP:0011283	Abnormal metencephalon morphology	1786	DNMT1	ORPHA:314404
HP:0011283	Abnormal metencephalon morphology	1786	DNMT1	OMIM:604121
HP:0011283	Abnormal metencephalon morphology	10159	ATP6AP2	ORPHA:93952
HP:0011283	Abnormal metencephalon morphology	10159	ATP6AP2	OMIM:300423
HP:0011283	Abnormal metencephalon morphology	5521	PPP2R2B	OMIM:604326
HP:0011283	Abnormal metencephalon morphology	5521	PPP2R2B	ORPHA:98762
HP:0011283	Abnormal metencephalon morphology	6687	SPG7	ORPHA:99013
HP:0011283	Abnormal metencephalon morphology	6687	SPG7	OMIM:607259
HP:0011283	Abnormal metencephalon morphology	3074	HEXB	ORPHA:309162
HP:0011283	Abnormal metencephalon morphology	10908	PNPLA6	ORPHA:139480
HP:0011283	Abnormal metencephalon morphology	10908	PNPLA6	OMIM:215470
HP:0011283	Abnormal metencephalon morphology	10908	PNPLA6	OMIM:612020
HP:0011283	Abnormal metencephalon morphology	65993	MRPS34	OMIM:617664
HP:0011283	Abnormal metencephalon morphology	10300	KATNB1	OMIM:616212
HP:0011283	Abnormal metencephalon morphology	10300	KATNB1	ORPHA:89844
HP:0011283	Abnormal metencephalon morphology	8722	CTSF	OMIM:615362
HP:0011283	Abnormal metencephalon morphology	56997	COQ8A	ORPHA:139485
HP:0011283	Abnormal metencephalon morphology	56997	COQ8A	OMIM:612016
HP:0011283	Abnormal metencephalon morphology	10026	PIGK	OMIM:618879
HP:0011283	Abnormal metencephalon morphology	477	ATP1A2	OMIM:619605
HP:0011283	Abnormal metencephalon morphology	477	ATP1A2	OMIM:602481
HP:0011283	Abnormal metencephalon morphology	477	ATP1A2	ORPHA:569
HP:0011283	Abnormal metencephalon morphology	478	ATP1A3	OMIM:619606
HP:0011283	Abnormal metencephalon morphology	478	ATP1A3	ORPHA:71517
HP:0011283	Abnormal metencephalon morphology	10501	SEMA6B	OMIM:618876
HP:0011283	Abnormal metencephalon morphology	84520	GON7	OMIM:619603
HP:0011283	Abnormal metencephalon morphology	55768	NGLY1	ORPHA:404454
HP:0011283	Abnormal metencephalon morphology	79693	YRDC	OMIM:619609
HP:0011283	Abnormal metencephalon morphology	146057	TTBK2	OMIM:604432
HP:0011283	Abnormal metencephalon morphology	535	ATP6V0A1	OMIM:619971
HP:0011283	Abnormal metencephalon morphology	7345	UCHL1	OMIM:615491
HP:0011283	Abnormal metencephalon morphology	7343	UBTF	OMIM:617672
HP:0011283	Abnormal metencephalon morphology	816	CAMK2B	OMIM:617799
HP:0011283	Abnormal metencephalon morphology	10352	WARS2	OMIM:619738
HP:0011283	Abnormal metencephalon morphology	10352	WARS2	ORPHA:572798
HP:0011283	Abnormal metencephalon morphology	10352	WARS2	OMIM:617710
HP:0011283	Abnormal metencephalon morphology	3064	HTT	OMIM:617435
HP:0011283	Abnormal metencephalon morphology	3064	HTT	OMIM:143100
HP:0011283	Abnormal metencephalon morphology	3064	HTT	ORPHA:248111
HP:0011283	Abnormal metencephalon morphology	7436	VLDLR	OMIM:224050
HP:0011283	Abnormal metencephalon morphology	9326	ZNHIT3	ORPHA:2836
HP:0011283	Abnormal metencephalon morphology	9326	ZNHIT3	OMIM:260565
HP:0011283	Abnormal metencephalon morphology	547	KIF1A	ORPHA:2836
HP:0011283	Abnormal metencephalon morphology	547	KIF1A	OMIM:610357
HP:0011283	Abnormal metencephalon morphology	547	KIF1A	OMIM:614255
HP:0011283	Abnormal metencephalon morphology	8560	DEGS1	OMIM:618404
HP:0011283	Abnormal metencephalon morphology	10939	AFG3L2	ORPHA:313772
HP:0011283	Abnormal metencephalon morphology	10939	AFG3L2	OMIM:610246
HP:0011283	Abnormal metencephalon morphology	10939	AFG3L2	OMIM:614487
HP:0011283	Abnormal metencephalon morphology	1130	LYST	ORPHA:167
HP:0011283	Abnormal metencephalon morphology	343641	TGM6	ORPHA:276193
HP:0011283	Abnormal metencephalon morphology	343641	TGM6	OMIM:613908
HP:0011283	Abnormal metencephalon morphology	10715	CERS1	OMIM:616230
HP:0011283	Abnormal metencephalon morphology	84504	NKX6-2	OMIM:617560
HP:0011283	Abnormal metencephalon morphology	84504	NKX6-2	ORPHA:527497
HP:0011283	Abnormal metencephalon morphology	10935	PRDX3	OMIM:619862
HP:0011283	Abnormal metencephalon morphology	2744	GLS	OMIM:618412
HP:0011283	Abnormal metencephalon morphology	6712	SPTBN2	OMIM:615386
HP:0011283	Abnormal metencephalon morphology	6712	SPTBN2	OMIM:600224
HP:0011283	Abnormal metencephalon morphology	6712	SPTBN2	ORPHA:98766
HP:0011283	Abnormal metencephalon morphology	6712	SPTBN2	ORPHA:352403
HP:0011283	Abnormal metencephalon morphology	83636	C19orf12	OMIM:614298
HP:0011283	Abnormal metencephalon morphology	833	CARS1	OMIM:618891
HP:0011283	Abnormal metencephalon morphology	57178	ZMIZ1	OMIM:618659
HP:0011283	Abnormal metencephalon morphology	246243	RNASEH1	OMIM:616479
HP:0011283	Abnormal metencephalon morphology	51761	ATP8A2	OMIM:615268
HP:0011283	Abnormal metencephalon morphology	54840	APTX	OMIM:208920
HP:0011283	Abnormal metencephalon morphology	79731	NARS2	OMIM:616239
HP:0011283	Abnormal metencephalon morphology	6905	TBCE	OMIM:617207
HP:0011283	Abnormal metencephalon morphology	6905	TBCE	ORPHA:496756
HP:0011283	Abnormal metencephalon morphology	950	SCARB2	OMIM:254900
HP:0011283	Abnormal metencephalon morphology	5373	PMM2	OMIM:212065
HP:0011283	Abnormal metencephalon morphology	253738	EBF3	OMIM:617330
HP:0011283	Abnormal metencephalon morphology	1186	CLCN7	OMIM:618541
HP:0011283	Abnormal metencephalon morphology	55621	TRMT1	OMIM:618302
HP:0011283	Abnormal metencephalon morphology	51604	PIGT	OMIM:615398
HP:0011283	Abnormal metencephalon morphology	51604	PIGT	ORPHA:369837
HP:0011283	Abnormal metencephalon morphology	55280	CWF19L1	OMIM:616127
HP:0011283	Abnormal metencephalon morphology	3098	HK1	OMIM:618547
HP:0011283	Abnormal metencephalon morphology	8021	NUP214	OMIM:618426
HP:0011283	Abnormal metencephalon morphology	4191	MDH2	OMIM:617339
HP:0011283	Abnormal metencephalon morphology	150468	CKAP2L	OMIM:272440
HP:0011283	Abnormal metencephalon morphology	285362	SUMF1	OMIM:272200
HP:0011283	Abnormal metencephalon morphology	56052	ALG1	ORPHA:79327
HP:0011283	Abnormal metencephalon morphology	79796	ALG9	ORPHA:79328
HP:0011283	Abnormal metencephalon morphology	79796	ALG9	OMIM:608776
HP:0011283	Abnormal metencephalon morphology	3766	KCNJ10	ORPHA:199343
HP:0011283	Abnormal metencephalon morphology	3766	KCNJ10	OMIM:612780
HP:0011283	Abnormal metencephalon morphology	55210	ATAD3A	ORPHA:496790
HP:0011283	Abnormal metencephalon morphology	55210	ATAD3A	OMIM:617183
HP:0011283	Abnormal metencephalon morphology	9533	POLR1C	OMIM:616494
HP:0011283	Abnormal metencephalon morphology	54828	BCAS3	OMIM:619641
HP:0011283	Abnormal metencephalon morphology	8733	GPAA1	ORPHA:529665
HP:0011283	Abnormal metencephalon morphology	8733	GPAA1	OMIM:617810
HP:0011283	Abnormal metencephalon morphology	5621	PRNP	ORPHA:157941
HP:0011283	Abnormal metencephalon morphology	5621	PRNP	OMIM:137440
HP:0011283	Abnormal metencephalon morphology	2232	FDXR	ORPHA:543470
HP:0011283	Abnormal metencephalon morphology	56947	MFF	ORPHA:485421
HP:0011283	Abnormal metencephalon morphology	56947	MFF	OMIM:617086
HP:0011283	Abnormal metencephalon morphology	23400	ATP13A2	OMIM:617225
HP:0011283	Abnormal metencephalon morphology	23400	ATP13A2	ORPHA:513436
HP:0011283	Abnormal metencephalon morphology	10531	PITRM1	OMIM:619405
HP:0011283	Abnormal metencephalon morphology	146227	BEAN1	ORPHA:217012
HP:0011283	Abnormal metencephalon morphology	146227	BEAN1	OMIM:117210
HP:0011283	Abnormal metencephalon morphology	256471	MFSD8	OMIM:610951
HP:0011283	Abnormal metencephalon morphology	91949	COG7	ORPHA:79333
HP:0011283	Abnormal metencephalon morphology	91949	COG7	OMIM:608779
HP:0011283	Abnormal metencephalon morphology	23556	PIGN	OMIM:614080
HP:0011283	Abnormal metencephalon morphology	23556	PIGN	ORPHA:280633
HP:0011283	Abnormal metencephalon morphology	51651	PTRH2	OMIM:616263
HP:0011283	Abnormal metencephalon morphology	23007	PLCH1	OMIM:619895
HP:0011283	Abnormal metencephalon morphology	23162	MAPK8IP3	OMIM:618443
HP:0011283	Abnormal metencephalon morphology	197258	FCSK	OMIM:618324
HP:0011283	Abnormal metencephalon morphology	11284	PNKP	OMIM:616267
HP:0011283	Abnormal metencephalon morphology	11284	PNKP	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	11284	PNKP	OMIM:613402
HP:0011283	Abnormal metencephalon morphology	259232	NALCN	OMIM:616266
HP:0011283	Abnormal metencephalon morphology	339855	KY	ORPHA:496689
HP:0011283	Abnormal metencephalon morphology	125988	MICOS13	OMIM:618329
HP:0011283	Abnormal metencephalon morphology	29960	MRM2	OMIM:618567
HP:0011283	Abnormal metencephalon morphology	2055	CLN8	ORPHA:1947
HP:0011283	Abnormal metencephalon morphology	2055	CLN8	OMIM:600143
HP:0011283	Abnormal metencephalon morphology	2055	CLN8	OMIM:610003
HP:0011283	Abnormal metencephalon morphology	8813	DPM1	ORPHA:79322
HP:0011283	Abnormal metencephalon morphology	57192	MCOLN1	OMIM:252650
HP:0011283	Abnormal metencephalon morphology	58497	PRUNE1	OMIM:617481
HP:0011283	Abnormal metencephalon morphology	58497	PRUNE1	ORPHA:544469
HP:0011283	Abnormal metencephalon morphology	5111	PCNA	ORPHA:438134
HP:0011283	Abnormal metencephalon morphology	5111	PCNA	OMIM:615919
HP:0011283	Abnormal metencephalon morphology	3980	LIG3	OMIM:619780
HP:0011283	Abnormal metencephalon morphology	11232	POLG2	OMIM:619425
HP:0011283	Abnormal metencephalon morphology	11232	POLG2	ORPHA:254892
HP:0011283	Abnormal metencephalon morphology	11232	POLG2	OMIM:610131
HP:0011283	Abnormal metencephalon morphology	6792	CDKL5	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	3736	KCNA1	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	3736	KCNA1	ORPHA:37612
HP:0011283	Abnormal metencephalon morphology	9091	PIGQ	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2775	GNAO1	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2775	GNAO1	OMIM:617493
HP:0011283	Abnormal metencephalon morphology	81603	TRIM8	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2902	GRIN1	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2902	GRIN1	OMIM:614254
HP:0011283	Abnormal metencephalon morphology	79751	SLC25A22	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	150094	SIK1	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	23312	DMXL2	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2917	GRM7	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	2917	GRM7	OMIM:618922
HP:0011283	Abnormal metencephalon morphology	170302	ARX	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	6326	SCN2A	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	51227	PIGP	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	6324	SCN1B	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	4761	NEUROD2	ORPHA:1934
HP:0011283	Abnormal metencephalon morphology	1203	CLN5	ORPHA:228360
HP:0011283	Abnormal metencephalon morphology	1203	CLN5	OMIM:256731
HP:0011283	Abnormal metencephalon morphology	291	SLC25A4	ORPHA:254892
HP:0011283	Abnormal metencephalon morphology	50484	RRM2B	ORPHA:254892
HP:0011283	Abnormal metencephalon morphology	23111	SPART	OMIM:275900
HP:0011283	Abnormal metencephalon morphology	10059	DNM1L	ORPHA:330050
HP:0011283	Abnormal metencephalon morphology	10059	DNM1L	ORPHA:98673
HP:0011283	Abnormal metencephalon morphology	8925	HERC1	OMIM:617011
HP:0011283	Abnormal metencephalon morphology	79876	UBA5	OMIM:617132
HP:0011283	Abnormal metencephalon morphology	79876	UBA5	OMIM:617133
HP:0011283	Abnormal metencephalon morphology	10466	COG5	ORPHA:263487
HP:0011283	Abnormal metencephalon morphology	10466	COG5	OMIM:613612
HP:0011283	Abnormal metencephalon morphology	9759	HDAC4	OMIM:619797
HP:0011283	Abnormal metencephalon morphology	23516	SLC39A14	OMIM:617013
HP:0011283	Abnormal metencephalon morphology	23516	SLC39A14	ORPHA:521406
HP:0011283	Abnormal metencephalon morphology	8506	CNTNAP1	OMIM:616286
HP:0011283	Abnormal metencephalon morphology	8506	CNTNAP1	OMIM:618186
HP:0011283	Abnormal metencephalon morphology	23345	SYNE1	ORPHA:88644
HP:0011283	Abnormal metencephalon morphology	23345	SYNE1	OMIM:610743
HP:0011283	Abnormal metencephalon morphology	51728	POLR3K	OMIM:619310
HP:0011283	Abnormal metencephalon morphology	10785	WDR4	OMIM:618347
HP:0011283	Abnormal metencephalon morphology	4719	NDUFS1	OMIM:618226
HP:0011283	Abnormal metencephalon morphology	51412	ACTL6B	OMIM:618468
HP:0011283	Abnormal metencephalon morphology	3708	ITPR1	ORPHA:208513
HP:0011283	Abnormal metencephalon morphology	3708	ITPR1	OMIM:206700
HP:0011283	Abnormal metencephalon morphology	3708	ITPR1	ORPHA:98769
HP:0011283	Abnormal metencephalon morphology	3708	ITPR1	OMIM:606658
HP:0011283	Abnormal metencephalon morphology	6507	SLC1A3	ORPHA:209967
HP:0011283	Abnormal metencephalon morphology	6507	SLC1A3	OMIM:612656
HP:0011283	Abnormal metencephalon morphology	128869	PIGU	OMIM:618590
HP:0011283	Abnormal metencephalon morphology	6548	SLC9A1	OMIM:616291
HP:0011283	Abnormal metencephalon morphology	55610	VPS50	OMIM:619685
HP:0011283	Abnormal metencephalon morphology	7084	TK2	ORPHA:254886
HP:0011283	Abnormal metencephalon morphology	81790	RNF170	OMIM:619686
HP:0011283	Abnormal metencephalon morphology	23102	TBC1D2B	OMIM:619323
HP:0011283	Abnormal metencephalon morphology	23114	NFASC	OMIM:618356
HP:0011283	Abnormal metencephalon morphology	6647	SOD1	OMIM:618598
HP:0011283	Abnormal metencephalon morphology	92667	MGME1	OMIM:615084
HP:0011283	Abnormal metencephalon morphology	92667	MGME1	ORPHA:352447
HP:0011283	Abnormal metencephalon morphology	25814	ATXN10	OMIM:603516
HP:0011283	Abnormal metencephalon morphology	25814	ATXN10	ORPHA:98761
HP:0011283	Abnormal metencephalon morphology	54820	NDE1	ORPHA:89844
HP:0011283	Abnormal metencephalon morphology	51601	LIPT1	OMIM:616299
HP:0011283	Abnormal metencephalon morphology	8878	SQSTM1	OMIM:617145
HP:0011283	Abnormal metencephalon morphology	29078	NDUFAF4	OMIM:618237
HP:0011283	Abnormal metencephalon morphology	11152	WDR45	ORPHA:329284
HP:0011283	Abnormal metencephalon morphology	11152	WDR45	OMIM:300894
HP:0011283	Abnormal metencephalon morphology	154881	KCTD7	OMIM:611726
HP:0011283	Abnormal metencephalon morphology	154881	KCTD7	ORPHA:263516
HP:0011283	Abnormal metencephalon morphology	9179	AP4M1	OMIM:612936
HP:0011283	Abnormal metencephalon morphology	9179	AP4M1	ORPHA:280763
HP:0011283	Abnormal metencephalon morphology	6904	TBCD	ORPHA:496641
HP:0011283	Abnormal metencephalon morphology	6904	TBCD	OMIM:617193
HP:0011283	Abnormal metencephalon morphology	4976	OPA1	ORPHA:98673
HP:0011283	Abnormal metencephalon morphology	4976	OPA1	OMIM:210000
HP:0011283	Abnormal metencephalon morphology	5934	RBL2	OMIM:619690
HP:0011283	Abnormal metencephalon morphology	25929	GEMIN5	OMIM:619333
HP:0011283	Abnormal metencephalon morphology	4621	MYH3	OMIM:193700
HP:0011283	Abnormal metencephalon morphology	56915	EXOSC5	OMIM:619576
HP:0011283	Abnormal metencephalon morphology	10588	MTHFS	OMIM:618367
HP:0011283	Abnormal metencephalon morphology	63925	ZNF335	OMIM:615095
HP:0011283	Abnormal metencephalon morphology	4704	NDUFA9	OMIM:618247
HP:0011283	Abnormal metencephalon morphology	55572	FOXRED1	OMIM:618241
HP:0011283	Abnormal metencephalon morphology	3746	KCNC1	OMIM:616187
HP:0011283	Abnormal metencephalon morphology	8120	AP3B2	OMIM:617276
HP:0011283	Abnormal metencephalon morphology	54834	GDAP2	OMIM:618369
HP:0011283	Abnormal metencephalon morphology	7965	AIMP2	OMIM:618006
HP:0011283	Abnormal metencephalon morphology	51079	NDUFA13	OMIM:618249
HP:0011283	Abnormal metencephalon morphology	26999	CYFIP2	OMIM:618008
HP:0011283	Abnormal metencephalon morphology	1201	CLN3	ORPHA:228346
HP:0011283	Abnormal metencephalon morphology	773	CACNA1A	ORPHA:569
HP:0011283	Abnormal metencephalon morphology	773	CACNA1A	OMIM:183086
HP:0011283	Abnormal metencephalon morphology	773	CACNA1A	OMIM:141500
HP:0011283	Abnormal metencephalon morphology	112476	PRRT2	ORPHA:569
HP:0011283	Abnormal metencephalon morphology	6323	SCN1A	ORPHA:569
HP:0011283	Abnormal metencephalon morphology	2898	GRIK2	OMIM:619580
HP:0011283	Abnormal metencephalon morphology	5611	DNAJC3	OMIM:616192
HP:0011283	Abnormal metencephalon morphology	5611	DNAJC3	ORPHA:445062
HP:0011283	Abnormal metencephalon morphology	2332	FMR1	OMIM:300623
HP:0011283	Abnormal metencephalon morphology	10524	KAT5	OMIM:619103
HP:0011283	Abnormal metencephalon morphology	372	ARCN1	OMIM:617164
HP:0011283	Abnormal metencephalon morphology	2705	GJB1	OMIM:302800
HP:0011283	Abnormal metencephalon morphology	523	ATP6V1A	OMIM:618012
HP:0011283	Abnormal metencephalon morphology	2257	FGF12	OMIM:617166
HP:0011283	Abnormal metencephalon morphology	2071	ERCC3	OMIM:610651
HP:0011283	Abnormal metencephalon morphology	1200	TPP1	OMIM:609270
HP:0011283	Abnormal metencephalon morphology	1200	TPP1	ORPHA:284324
HP:0011283	Abnormal metencephalon morphology	220296	HEPACAM	OMIM:613925
HP:0011283	Abnormal metencephalon morphology	1938	EEF2	ORPHA:101112
HP:0011283	Abnormal metencephalon morphology	1938	EEF2	OMIM:609306
HP:0011283	Abnormal metencephalon morphology	65260	COA7	OMIM:618387
HP:0011283	Abnormal metencephalon morphology	23316	CUX2	OMIM:618141
HP:0011283	Abnormal metencephalon morphology	64849	SLC13A3	OMIM:618384
HP:0011283	Abnormal metencephalon morphology	4361	MRE11	ORPHA:251347
HP:0011283	Abnormal metencephalon morphology	4361	MRE11	OMIM:604391
HP:0011283	Abnormal metencephalon morphology	1528	CYB5A	ORPHA:621
HP:0011283	Abnormal metencephalon morphology	1727	CYB5R3	ORPHA:621
HP:0011283	Abnormal metencephalon morphology	2571	GAD1	OMIM:619124
HP:0011283	Abnormal metencephalon morphology	6872	TAF1	OMIM:300966
HP:0011283	Abnormal metencephalon morphology	90522	YIF1B	OMIM:619125
HP:0011283	Abnormal metencephalon morphology	84340	GFM2	OMIM:618397
HP:0011283	Abnormal metencephalon morphology	79152	FA2H	ORPHA:171629
HP:0011283	Abnormal metencephalon morphology	79152	FA2H	ORPHA:329308
HP:0011283	Abnormal metencephalon morphology	79152	FA2H	OMIM:612319
HP:0011283	Abnormal metencephalon morphology	57038	RARS2	OMIM:611523
HP:0011283	Abnormal metencephalon morphology	57704	GBA2	ORPHA:320391
HP:0011283	Abnormal metencephalon morphology	57704	GBA2	OMIM:614409
HP:0011283	Abnormal metencephalon morphology	2799	GNS	OMIM:252940
HP:0011283	Abnormal metencephalon morphology	9895	TECPR2	ORPHA:320385
HP:0011283	Abnormal metencephalon morphology	6389	SDHA	OMIM:619259
HP:0011283	Abnormal metencephalon morphology	383	ARG1	OMIM:207800
HP:0011283	Abnormal metencephalon morphology	3295	HSD17B4	OMIM:261515
HP:0011283	Abnormal metencephalon morphology	3295	HSD17B4	OMIM:233400
HP:0011283	Abnormal metencephalon morphology	54936	ADPRS	OMIM:618170
HP:0011283	Abnormal metencephalon morphology	79644	SRD5A3	ORPHA:324737
HP:0011283	Abnormal metencephalon morphology	27072	VPS41	OMIM:619389
HP:0011283	Abnormal metencephalon morphology	84274	COQ5	OMIM:619028
HP:0011283	Abnormal metencephalon morphology	221927	BRAT1	OMIM:618056
HP:0011283	Abnormal metencephalon morphology	10535	RNASEH2A	OMIM:610333
HP:0011283	Abnormal metencephalon morphology	11342	RNF13	ORPHA:544503
HP:0011283	Abnormal metencephalon morphology	64858	DCLRE1B	OMIM:620133
HP:0011283	Abnormal metencephalon morphology	55129	ANO10	OMIM:613728
HP:0011283	Abnormal metencephalon morphology	55129	ANO10	ORPHA:284289
HP:0011283	Abnormal metencephalon morphology	60481	ELOVL5	ORPHA:423296
HP:0011283	Abnormal metencephalon morphology	25792	CIZ1	ORPHA:420492
HP:0011283	Abnormal metencephalon morphology	64374	SIL1	OMIM:248800
HP:0011283	Abnormal metencephalon morphology	4702	NDUFA8	OMIM:619272
HP:0011283	Abnormal metencephalon morphology	10134	BCAP31	OMIM:300475
HP:0011283	Abnormal metencephalon morphology	10134	BCAP31	ORPHA:369939
HP:0011283	Abnormal metencephalon morphology	158	ADSL	OMIM:103050
HP:0011283	Abnormal metencephalon morphology	51102	MECR	ORPHA:508093
HP:0011283	Abnormal metencephalon morphology	7355	SLC35A2	ORPHA:356961
HP:0011283	Abnormal metencephalon morphology	347734	SLC35B2	OMIM:620269
HP:0011283	Abnormal metencephalon morphology	2896	GRN	OMIM:614706
HP:0011283	Abnormal metencephalon morphology	10667	FARS2	OMIM:614946
HP:0011283	Abnormal metencephalon morphology	200205	IBA57	ORPHA:468661
HP:0011283	Abnormal metencephalon morphology	9442	MED27	OMIM:619286
HP:0011283	Abnormal metencephalon morphology	54476	RNF216	OMIM:212840
HP:0011283	Abnormal metencephalon morphology	23431	AP4E1	OMIM:613744
HP:0011283	Abnormal metencephalon morphology	23431	AP4E1	ORPHA:280763
HP:0011283	Abnormal metencephalon morphology	4884	NPTX1	OMIM:620158
HP:0011283	Abnormal metencephalon morphology	51324	SPG21	OMIM:248900
HP:0011283	Abnormal metencephalon morphology	64207	IRF2BPL	OMIM:618088
HP:0011283	Abnormal metencephalon morphology	55157	DARS2	ORPHA:137898
HP:0011283	Abnormal metencephalon morphology	5173	PDYN	OMIM:610245
HP:0011283	Abnormal metencephalon morphology	1509	CTSD	OMIM:610127
HP:0011283	Abnormal metencephalon morphology	80856	LNPK	OMIM:618090
HP:0011283	Abnormal metencephalon morphology	1327	COX4I1	OMIM:619060
HP:0011283	Abnormal metencephalon morphology	23203	PMPCA	ORPHA:1170
HP:0011283	Abnormal metencephalon morphology	7156	TOP3A	OMIM:618098
HP:0011283	Abnormal metencephalon morphology	26090	ABHD12	OMIM:612674
HP:0011283	Abnormal metencephalon morphology	55775	TDP1	OMIM:607250
HP:0011283	Abnormal metencephalon morphology	84342	COG8	ORPHA:95428
HP:0011283	Abnormal metencephalon morphology	84342	COG8	OMIM:611182
HP:0011283	Abnormal metencephalon morphology	1600	DAB1	OMIM:615945
HP:0011283	Abnormal metencephalon morphology	10382	TUBB4A	OMIM:612438
HP:0011283	Abnormal metencephalon morphology	84947	SERAC1	OMIM:614739
HP:0011283	Abnormal metencephalon morphology	9711	RUBCN	OMIM:615705
HP:0011283	Abnormal metencephalon morphology	6908	TBP	OMIM:607136
HP:0011283	Abnormal metencephalon morphology	6908	TBP	ORPHA:98759
HP:0011283	Abnormal metencephalon morphology	7915	ALDH5A1	OMIM:271980
HP:0011283	Abnormal metencephalon morphology	2259	FGF14	OMIM:620174
HP:0011283	Abnormal metencephalon morphology	2259	FGF14	ORPHA:98764
HP:0011283	Abnormal metencephalon morphology	2259	FGF14	OMIM:193003
HP:0011283	Abnormal metencephalon morphology	3475	IFRD1	ORPHA:98771
HP:0011283	Abnormal metencephalon morphology	3752	KCND3	ORPHA:98772
HP:0011283	Abnormal metencephalon morphology	3752	KCND3	OMIM:607346
HP:0011283	Abnormal metencephalon morphology	1267	CNP	OMIM:619071
HP:0011283	Abnormal metencephalon morphology	5828	PEX2	OMIM:614866
HP:0011283	Abnormal metencephalon morphology	5828	PEX2	OMIM:614867
HP:0011283	Abnormal metencephalon morphology	90624	LYRM7	OMIM:615838
HP:0011283	Abnormal metencephalon morphology	1282	COL4A1	OMIM:175780
HP:0011283	Abnormal metencephalon morphology	3748	KCNC3	ORPHA:98768
HP:0011283	Abnormal metencephalon morphology	3748	KCNC3	OMIM:605259
HP:0011283	Abnormal metencephalon morphology	83475	DOHH	OMIM:620066
HP:0011283	Abnormal metencephalon morphology	492	ATP2B3	OMIM:302500
HP:0011283	Abnormal metencephalon morphology	255928	SYT14	ORPHA:284271
HP:0011283	Abnormal metencephalon morphology	255928	SYT14	OMIM:614229
HP:0011283	Abnormal metencephalon morphology	5192	PEX10	OMIM:614871
HP:0011283	Abnormal metencephalon morphology	9409	PEX16	OMIM:614877
HP:0011283	Abnormal metencephalon morphology	64135	IFIH1	OMIM:615846
HP:0011283	Abnormal metencephalon morphology	25828	TXN2	OMIM:616811
HP:0011283	Abnormal metencephalon morphology	7274	TTPA	OMIM:277460
HP:0011283	Abnormal metencephalon morphology	22880	MORC2	OMIM:619090
HP:0011283	Abnormal metencephalon morphology	22880	MORC2	ORPHA:466768
HP:0011283	Abnormal metencephalon morphology	55275	VPS53	OMIM:615851
HP:0011283	Abnormal metencephalon morphology	1384	CRAT	OMIM:617917
HP:0011283	Abnormal metencephalon morphology	64116	SLC39A8	ORPHA:468699
HP:0011283	Abnormal metencephalon morphology	64116	SLC39A8	OMIM:616721
HP:0011283	Abnormal metencephalon morphology	200403	VWA3B	OMIM:616948
HP:0011283	Abnormal metencephalon morphology	85021	REPS1	OMIM:617916
HP:0011283	Abnormal metencephalon morphology	57017	COQ9	OMIM:614654
HP:0011283	Abnormal metencephalon morphology	55690	PACS1	ORPHA:329224
HP:0011283	Abnormal metencephalon morphology	22907	DHX30	OMIM:617804
HP:0011283	Abnormal metencephalon morphology	79628	SH3TC2	ORPHA:99949
HP:0011283	Abnormal metencephalon morphology	7407	VARS1	OMIM:617802
HP:0011283	Abnormal metencephalon morphology	339453	TMEM240	OMIM:607454
HP:0011283	Abnormal metencephalon morphology	23064	SETX	OMIM:606002
HP:0011283	Abnormal metencephalon morphology	1861	TOR1A	OMIM:128100
HP:0011283	Abnormal metencephalon morphology	80207	OPA3	ORPHA:67036
HP:0011283	Abnormal metencephalon morphology	6334	SCN8A	OMIM:614306
HP:0011283	Abnormal metencephalon morphology	55187	VPS13D	OMIM:607317
HP:0011283	Abnormal metencephalon morphology	57505	AARS2	OMIM:615889
HP:0011283	Abnormal metencephalon morphology	50	ACO2	OMIM:614559
HP:0011283	Abnormal metencephalon morphology	2891	GRIA2	OMIM:618917
HP:0011283	Abnormal metencephalon morphology	4694	NDUFA1	OMIM:301020
HP:0011283	Abnormal metencephalon morphology	23732	FRRS1L	OMIM:616981
HP:0011283	Abnormal metencephalon morphology	63035	BCORL1	OMIM:301029
HP:0011283	Abnormal metencephalon morphology	9512	PMPCB	OMIM:617954
HP:0011283	Abnormal metencephalon morphology	6709	SPTAN1	OMIM:613477
HP:0011283	Abnormal metencephalon morphology	51741	WWOX	OMIM:614322
HP:0011283	Abnormal metencephalon morphology	2058	EPRS1	OMIM:617951
HP:0011283	Abnormal metencephalon morphology	5582	PRKCG	OMIM:605361
HP:0011283	Abnormal metencephalon morphology	5422	POLA1	OMIM:301030
HP:0011283	Abnormal metencephalon morphology	84188	FAR1	ORPHA:438178
HP:0011283	Abnormal metencephalon morphology	57511	COG6	OMIM:614576
HP:0011283	Abnormal metencephalon morphology	23065	EMC1	OMIM:616875
HP:0011283	Abnormal metencephalon morphology	128637	TBC1D20	OMIM:615663
HP:0011283	Abnormal metencephalon morphology	5981	RFC1	OMIM:614575
HP:0011283	Abnormal metencephalon morphology	55644	OSGEP	OMIM:617729
HP:0011283	Abnormal metencephalon morphology	9997	SCO2	OMIM:604377
HP:0011283	Abnormal metencephalon morphology	8270	LAGE3	OMIM:301006
HP:0011283	Abnormal metencephalon morphology	80781	COL18A1	OMIM:267750
HP:0011283	Abnormal metencephalon morphology	122553	TRAPPC6B	OMIM:617862
HP:0011283	Abnormal metencephalon morphology	7222	TRPC3	OMIM:616410
HP:0011283	Abnormal metencephalon morphology	80210	ARMC9	OMIM:617622
HP:0011283	Abnormal metencephalon morphology	2670	GFAP	ORPHA:363717
HP:0011283	Abnormal metencephalon morphology	55704	CCDC88A	OMIM:617507
HP:0011283	Abnormal metencephalon morphology	55164	SHQ1	OMIM:619922
HP:0011283	Abnormal metencephalon morphology	6785	ELOVL4	OMIM:133190
HP:0011283	Abnormal metencephalon morphology	617	BCS1L	OMIM:124000
HP:0011283	Abnormal metencephalon morphology	10717	AP4B1	ORPHA:280763
HP:0011283	Abnormal metencephalon morphology	11154	AP4S1	ORPHA:280763
HP:0011283	Abnormal metencephalon morphology	9197	SLC33A1	OMIM:614482
HP:0011283	Abnormal metencephalon morphology	4724	NDUFS4	OMIM:252010
HP:0011283	Abnormal metencephalon morphology	7515	XRCC1	OMIM:617633
HP:0011283	Abnormal metencephalon morphology	133686	NADK2	ORPHA:431361
HP:0011283	Abnormal metencephalon morphology	23533	PIK3R5	OMIM:615217
HP:0011283	Abnormal metencephalon morphology	3778	KCNMA1	OMIM:618729
HP:0011283	Abnormal metencephalon morphology	3778	KCNMA1	OMIM:617643
HP:0011283	Abnormal metencephalon morphology	51075	TMX2	OMIM:618730
HP:0011283	Abnormal metencephalon morphology	23404	EXOSC2	OMIM:617763
HP:0011283	Abnormal metencephalon morphology	79587	CARS2	OMIM:616672
HP:0011283	Abnormal metencephalon morphology	2196	FAT2	OMIM:617769
HP:0011283	Abnormal metencephalon morphology	267010	RNU12	ORPHA:512260
HP:0011283	Abnormal metencephalon morphology	10682	EBP	ORPHA:401973
HP:0011283	Abnormal metencephalon morphology	10682	EBP	OMIM:300960
HP:0011283	Abnormal metencephalon morphology	10682	EBP	OMIM:302960
HP:0011283	Abnormal metencephalon morphology	56896	DPYSL5	OMIM:619435
HP:0011283	Abnormal metencephalon morphology	55112	DYNC2I1	ORPHA:93271
HP:0011283	Abnormal metencephalon morphology	57560	IFT80	ORPHA:93271
HP:0011283	Abnormal metencephalon morphology	57539	WDR35	ORPHA:93271
HP:0011283	Abnormal metencephalon morphology	89891	DYNC2I2	ORPHA:93271
HP:0011283	Abnormal metencephalon morphology	1436	CSF1R	OMIM:618476
HP:0011283	Abnormal metencephalon morphology	84892	POMGNT2	ORPHA:899
HP:0011283	Abnormal metencephalon morphology	79068	FTO	OMIM:612938
HP:0011283	Abnormal metencephalon morphology	57492	ARID1B	OMIM:135900
HP:0011283	Abnormal metencephalon morphology	57492	ARID1B	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	3899	AFF3	OMIM:619297
HP:0011283	Abnormal metencephalon morphology	6597	SMARCA4	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6597	SMARCA4	OMIM:614609
HP:0011283	Abnormal metencephalon morphology	6598	SMARCB1	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6598	SMARCB1	OMIM:614608
HP:0011283	Abnormal metencephalon morphology	8289	ARID1A	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	8289	ARID1A	OMIM:614607
HP:0011283	Abnormal metencephalon morphology	5977	DPF2	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6601	SMARCC2	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6602	SMARCD1	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	196528	ARID2	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6605	SMARCE1	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	6605	SMARCE1	OMIM:616938
HP:0011283	Abnormal metencephalon morphology	6664	SOX11	ORPHA:1465
HP:0011283	Abnormal metencephalon morphology	23545	ATP6V0A2	ORPHA:2834
HP:0011283	Abnormal metencephalon morphology	23545	ATP6V0A2	OMIM:219200
HP:0011283	Abnormal metencephalon morphology	23545	ATP6V0A2	ORPHA:357074
HP:0011283	Abnormal metencephalon morphology	1801	DPH1	OMIM:616901
HP:0011283	Abnormal metencephalon morphology	1801	DPH1	ORPHA:459061
HP:0011283	Abnormal metencephalon morphology	27315	PGAP2	OMIM:614207
HP:0011283	Abnormal metencephalon morphology	157570	ESCO2	ORPHA:2319
HP:0011283	Abnormal metencephalon morphology	5340	PLG	ORPHA:722
HP:0011283	Abnormal metencephalon morphology	5340	PLG	OMIM:217090
HP:0011283	Abnormal metencephalon morphology	84314	TMEM107	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	79867	TCTN2	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	80776	B9D2	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	80776	B9D2	OMIM:614175
HP:0011283	Abnormal metencephalon morphology	79600	TCTN1	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	79583	TMEM231	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	79583	TMEM231	ORPHA:2752
HP:0011283	Abnormal metencephalon morphology	79770	TXNDC15	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	27077	B9D1	ORPHA:564
HP:0011283	Abnormal metencephalon morphology	27031	NPHP3	OMIM:267010
HP:0011283	Abnormal metencephalon morphology	27031	NPHP3	OMIM:208540
HP:0011283	Abnormal metencephalon morphology	27031	NPHP3	ORPHA:3032
HP:0011283	Abnormal metencephalon morphology	23258	DENND5A	OMIM:617281
HP:0011283	Abnormal metencephalon morphology	171023	ASXL1	ORPHA:97297
HP:0011283	Abnormal metencephalon morphology	171023	ASXL1	OMIM:605039
HP:0011283	Abnormal metencephalon morphology	2683	B4GALT1	OMIM:607091
HP:0011283	Abnormal metencephalon morphology	2683	B4GALT1	ORPHA:79332
HP:0011283	Abnormal metencephalon morphology	26005	C2CD3	OMIM:615948
HP:0011283	Abnormal metencephalon morphology	26005	C2CD3	ORPHA:434179
HP:0011283	Abnormal metencephalon morphology	26227	PHGDH	OMIM:256520
HP:0011283	Abnormal metencephalon morphology	10804	GJB6	ORPHA:477
HP:0011283	Abnormal metencephalon morphology	2706	GJB2	ORPHA:477
HP:0011283	Abnormal metencephalon morphology	4927	NUP88	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	4654	MYOD1	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	4593	MUSK	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	5913	RAPSN	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	6572	SLC18A3	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	285489	DOK7	ORPHA:994
HP:0011283	Abnormal metencephalon morphology	56006	SMG9	OMIM:616920
HP:0011283	Abnormal metencephalon morphology	51524	TMEM138	OMIM:614465
HP:0011283	Abnormal metencephalon morphology	4534	MTM1	OMIM:310400
HP:0011283	Abnormal metencephalon morphology	54880	BCOR	OMIM:300166
HP:0011283	Abnormal metencephalon morphology	203068	TUBB	OMIM:156610
HP:0011283	Abnormal metencephalon morphology	55640	FLVCR2	OMIM:225790
HP:0011283	Abnormal metencephalon morphology	5500	PPP1CB	OMIM:617506
HP:0011283	Abnormal metencephalon morphology	54676	GTPBP2	OMIM:617988
HP:0011283	Abnormal metencephalon morphology	2239	GPC4	ORPHA:373
HP:0011283	Abnormal metencephalon morphology	2719	GPC3	ORPHA:373
HP:0011283	Abnormal metencephalon morphology	2121	EVC	OMIM:225500
HP:0011283	Abnormal metencephalon morphology	132884	EVC2	OMIM:225500
HP:0011283	Abnormal metencephalon morphology	153241	CEP120	OMIM:616300
HP:0011283	Abnormal metencephalon morphology	529	ATP6V1E1	ORPHA:357074
HP:0011283	Abnormal metencephalon morphology	3798	KIF5A	OMIM:617235
HP:0011283	Abnormal metencephalon morphology	1028	CDKN1C	OMIM:130650
HP:0011283	Abnormal metencephalon morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011283	Abnormal metencephalon morphology	3481	IGF2	OMIM:130650
HP:0011283	Abnormal metencephalon morphology	3784	KCNQ1	OMIM:130650
HP:0011283	Abnormal metencephalon morphology	1376	CPT2	ORPHA:228305
HP:0011283	Abnormal metencephalon morphology	219844	HYLS1	OMIM:236680
HP:0011283	Abnormal metencephalon morphology	9420	CYP7B1	ORPHA:100986
HP:0011283	Abnormal metencephalon morphology	9420	CYP7B1	OMIM:270800
HP:0011283	Abnormal metencephalon morphology	5626	PROP1	ORPHA:226307
HP:0011283	Abnormal metencephalon morphology	89884	LHX4	ORPHA:226307
HP:0011283	Abnormal metencephalon morphology	8022	LHX3	ORPHA:226307
HP:0011283	Abnormal metencephalon morphology	5449	POU1F1	ORPHA:226307
HP:0011283	Abnormal metencephalon morphology	4508	MT-ATP6	ORPHA:320360
HP:0011283	Abnormal metencephalon morphology	8314	BAP1	ORPHA:2495
HP:0011283	Abnormal metencephalon morphology	4771	NF2	ORPHA:2495
HP:0011283	Abnormal metencephalon morphology	4771	NF2	ORPHA:637
HP:0011283	Abnormal metencephalon morphology	84231	TRAF7	ORPHA:2495
HP:0011283	Abnormal metencephalon morphology	207	AKT1	ORPHA:2495
HP:0011283	Abnormal metencephalon morphology	207	AKT1	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	55746	NUP133	OMIM:618349
HP:0011283	Abnormal metencephalon morphology	8050	PDHX	ORPHA:255182
HP:0011283	Abnormal metencephalon morphology	10613	ERLIN1	ORPHA:401785
HP:0011283	Abnormal metencephalon morphology	10613	ERLIN1	OMIM:615681
HP:0011283	Abnormal metencephalon morphology	23503	ZFYVE26	OMIM:270700
HP:0011283	Abnormal metencephalon morphology	23503	ZFYVE26	ORPHA:100996
HP:0011283	Abnormal metencephalon morphology	2521	FUS	ORPHA:300605
HP:0011283	Abnormal metencephalon morphology	80208	SPG11	ORPHA:300605
HP:0011283	Abnormal metencephalon morphology	10280	SIGMAR1	ORPHA:300605
HP:0011283	Abnormal metencephalon morphology	10558	SPTLC1	ORPHA:300605
HP:0011283	Abnormal metencephalon morphology	57679	ALS2	ORPHA:300605
HP:0011283	Abnormal metencephalon morphology	9101	USP8	ORPHA:401795
HP:0011283	Abnormal metencephalon morphology	6609	SMPD1	ORPHA:77293
HP:0011283	Abnormal metencephalon morphology	80224	NUBPL	OMIM:618242
HP:0011283	Abnormal metencephalon morphology	84668	HYCC1	ORPHA:85163
HP:0011283	Abnormal metencephalon morphology	84668	HYCC1	OMIM:610532
HP:0011283	Abnormal metencephalon morphology	9968	MED12	ORPHA:93932
HP:0011283	Abnormal metencephalon morphology	8139	GAN	ORPHA:643
HP:0011283	Abnormal metencephalon morphology	8139	GAN	OMIM:256850
HP:0011283	Abnormal metencephalon morphology	3119	HLA-DQB1	OMIM:123400
HP:0011283	Abnormal metencephalon morphology	5832	ALDH18A1	ORPHA:447753
HP:0011283	Abnormal metencephalon morphology	10483	SEC23B	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	6390	SDHB	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	6392	SDHD	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	6391	SDHC	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	205717	USF3	ORPHA:201
HP:0011283	Abnormal metencephalon morphology	2583	B4GALNT1	ORPHA:101006
HP:0011283	Abnormal metencephalon morphology	80331	DNAJC5	OMIM:162350
HP:0011283	Abnormal metencephalon morphology	22884	WDR37	OMIM:618652
HP:0011283	Abnormal metencephalon morphology	113278	SLC52A3	OMIM:211530
HP:0011283	Abnormal metencephalon morphology	27183	VPS4A	OMIM:619273
HP:0011283	Abnormal metencephalon morphology	10128	LRPPRC	OMIM:220111
HP:0011283	Abnormal metencephalon morphology	54892	NCAPG2	OMIM:618460
HP:0011283	Abnormal metencephalon morphology	4750	NEK1	OMIM:263520
HP:0011283	Abnormal metencephalon morphology	23241	PACS2	OMIM:618067
HP:0011283	Abnormal metencephalon morphology	26160	IFT172	OMIM:615630
HP:0011283	Abnormal metencephalon morphology	55733	HHAT	OMIM:600092
HP:0011283	Abnormal metencephalon morphology	8496	PPFIBP1	OMIM:620024
HP:0011283	Abnormal metencephalon morphology	64324	NSD1	ORPHA:821
HP:0011283	Abnormal metencephalon morphology	9578	CDC42BPB	OMIM:619841
HP:0011283	Abnormal metencephalon morphology	3020	H3-3A	OMIM:619720
HP:0011283	Abnormal metencephalon morphology	219854	TMEM218	OMIM:619562
HP:0011283	Abnormal metencephalon morphology	219854	TMEM218	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	7280	TUBB2A	OMIM:615763
HP:0011283	Abnormal metencephalon morphology	95681	CEP41	ORPHA:220493
HP:0011283	Abnormal metencephalon morphology	95681	CEP41	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	29968	PSAT1	OMIM:610992
HP:0011283	Abnormal metencephalon morphology	29968	PSAT1	ORPHA:284417
HP:0011283	Abnormal metencephalon morphology	57082	KNL1	OMIM:604321
HP:0011283	Abnormal metencephalon morphology	55777	MBD5	OMIM:156200
HP:0011283	Abnormal metencephalon morphology	22930	RAB3GAP1	OMIM:600118
HP:0011283	Abnormal metencephalon morphology	22930	RAB3GAP1	ORPHA:2510
HP:0011283	Abnormal metencephalon morphology	1778	DYNC1H1	OMIM:614563
HP:0011283	Abnormal metencephalon morphology	23090	ZNF423	OMIM:614844
HP:0011283	Abnormal metencephalon morphology	23090	ZNF423	ORPHA:2318
HP:0011283	Abnormal metencephalon morphology	22897	CEP164	OMIM:614845
HP:0011283	Abnormal metencephalon morphology	54974	THG1L	OMIM:618800
HP:0011283	Abnormal metencephalon morphology	93627	TBCK	OMIM:616900
HP:0011283	Abnormal metencephalon morphology	1063	CENPF	OMIM:243605
HP:0011283	Abnormal metencephalon morphology	23116	TOGARAM1	OMIM:619185
HP:0011283	Abnormal metencephalon morphology	23116	TOGARAM1	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	7703	PCGF2	OMIM:618371
HP:0011283	Abnormal metencephalon morphology	127833	SYT2	OMIM:619461
HP:0011283	Abnormal metencephalon morphology	8550	MAPKAPK5	OMIM:619869
HP:0011283	Abnormal metencephalon morphology	545	ATR	OMIM:210600
HP:0011283	Abnormal metencephalon morphology	60386	SLC25A19	ORPHA:99742
HP:0011283	Abnormal metencephalon morphology	60386	SLC25A19	OMIM:607196
HP:0011283	Abnormal metencephalon morphology	2296	FOXC1	OMIM:602482
HP:0011283	Abnormal metencephalon morphology	2296	FOXC1	OMIM:601631
HP:0011283	Abnormal metencephalon morphology	8241	RBM10	OMIM:311900
HP:0011283	Abnormal metencephalon morphology	51684	SUFU	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	65250	CPLANE1	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	65250	CPLANE1	OMIM:277170
HP:0011283	Abnormal metencephalon morphology	65250	CPLANE1	ORPHA:2754
HP:0011283	Abnormal metencephalon morphology	200894	ARL13B	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	9731	CEP104	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	23247	KATNIP	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	23247	KATNIP	OMIM:616784
HP:0011283	Abnormal metencephalon morphology	10464	PIBF1	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	25776	CBY1	ORPHA:475
HP:0011283	Abnormal metencephalon morphology	2615	LRRC32	OMIM:619074
HP:0011283	Abnormal metencephalon morphology	4352	MPL	OMIM:604498
HP:0011283	Abnormal metencephalon morphology	163786	SASS6	OMIM:616402
HP:0011283	Abnormal metencephalon morphology	29957	SLC25A24	OMIM:612289
HP:0011283	Abnormal metencephalon morphology	51692	CPSF3	OMIM:619876
HP:0011283	Abnormal metencephalon morphology	10236	HNRNPR	OMIM:620073
HP:0011283	Abnormal metencephalon morphology	51611	DPH5	OMIM:620070
HP:0011283	Abnormal metencephalon morphology	22983	MAST1	OMIM:618273
HP:0011283	Abnormal metencephalon morphology	90416	CCDC32	OMIM:619123
HP:0011283	Abnormal metencephalon morphology	5591	PRKDC	OMIM:615966
HP:0011283	Abnormal metencephalon morphology	54499	TMCO1	ORPHA:1394
HP:0011283	Abnormal metencephalon morphology	79971	WLS	OMIM:619648
HP:0011283	Abnormal metencephalon morphology	79633	FAT4	ORPHA:314679
HP:0011283	Abnormal metencephalon morphology	8642	DCHS1	ORPHA:314679
HP:0011283	Abnormal metencephalon morphology	55691	FRMD4A	OMIM:616819
HP:0011283	Abnormal metencephalon morphology	55691	FRMD4A	ORPHA:466688
HP:0011283	Abnormal metencephalon morphology	3187	HNRNPH1	OMIM:620083
HP:0011283	Abnormal metencephalon morphology	57020	VPS35L	OMIM:619135
HP:0011283	Abnormal metencephalon morphology	4123	MAN2C1	OMIM:619775
HP:0011283	Abnormal metencephalon morphology	2806	GOT2	OMIM:618721
HP:0011283	Abnormal metencephalon morphology	84081	NSRP1	OMIM:620001
HP:0011283	Abnormal metencephalon morphology	5048	PAFAH1B1	ORPHA:95232
HP:0011283	Abnormal metencephalon morphology	9939	RBM8A	OMIM:274000
HP:0011283	Abnormal metencephalon morphology	22931	RAB18	ORPHA:2510
HP:0011283	Abnormal metencephalon morphology	10079	ATP9A	OMIM:620242
HP:0011283	Abnormal metencephalon morphology	10210	TOPORS	ORPHA:2754
HP:0011283	Abnormal metencephalon morphology	317662	FAM149B1	ORPHA:2754
HP:0011283	Abnormal metencephalon morphology	9896	FIG4	OMIM:216340
HP:0011283	Abnormal metencephalon morphology	23299	BICD2	OMIM:618291
HP:0011283	Abnormal metencephalon morphology	129285	PPP1R21	OMIM:619383
HP:0011283	Abnormal metencephalon morphology	79023	NUP37	OMIM:618179
HP:0011283	Abnormal metencephalon morphology	8295	TRRAP	OMIM:618454
HP:0011283	Abnormal metencephalon morphology	9230	RAB11B	OMIM:617807
HP:0011283	Abnormal metencephalon morphology	11113	CIT	OMIM:617090
HP:0011283	Abnormal metencephalon morphology	11253	MAN1B1	ORPHA:397941
HP:0011283	Abnormal metencephalon morphology	11253	MAN1B1	OMIM:614202
HP:0011283	Abnormal metencephalon morphology	83700	JAM3	OMIM:613730
HP:0011283	Abnormal metencephalon morphology	55627	SMPD4	OMIM:618622
HP:0011283	Abnormal metencephalon morphology	55325	UFSP2	OMIM:620028
HP:0011283	Abnormal metencephalon morphology	1736	DKC1	OMIM:305000
HP:0011283	Abnormal metencephalon morphology	1736	DKC1	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	5457	POU4F1	ORPHA:314647
HP:0011283	Abnormal metencephalon morphology	23261	CAMTA1	ORPHA:314647
HP:0011283	Abnormal metencephalon morphology	23261	CAMTA1	OMIM:614756
HP:0011283	Abnormal metencephalon morphology	85300	ATCAY	ORPHA:94122
HP:0011283	Abnormal metencephalon morphology	85300	ATCAY	OMIM:601238
HP:0011283	Abnormal metencephalon morphology	57176	VARS2	OMIM:615917
HP:0011283	Abnormal metencephalon morphology	80232	WDR26	ORPHA:513456
HP:0011283	Abnormal metencephalon morphology	5932	RBBP8	OMIM:606744
HP:0011283	Abnormal metencephalon morphology	51506	UFC1	OMIM:618076
HP:0011283	Abnormal metencephalon morphology	10730	YME1L1	OMIM:617302
HP:0011283	Abnormal metencephalon morphology	55780	ERMARD	ORPHA:75857
HP:0011283	Abnormal metencephalon morphology	7015	TERT	OMIM:613989
HP:0011283	Abnormal metencephalon morphology	7015	TERT	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	7015	TERT	OMIM:127550
HP:0011283	Abnormal metencephalon morphology	26277	TINF2	OMIM:613990
HP:0011283	Abnormal metencephalon morphology	26277	TINF2	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	26277	TINF2	OMIM:268130
HP:0011283	Abnormal metencephalon morphology	26277	TINF2	OMIM:127550
HP:0011283	Abnormal metencephalon morphology	1020	CDK5	OMIM:616342
HP:0011283	Abnormal metencephalon morphology	5119	CHMP1A	OMIM:614961
HP:0011283	Abnormal metencephalon morphology	6773	STAT2	OMIM:618886
HP:0011283	Abnormal metencephalon morphology	157680	VPS13B	OMIM:216550
HP:0011283	Abnormal metencephalon morphology	55697	VAC14	ORPHA:3472
HP:0011283	Abnormal metencephalon morphology	57498	KIDINS220	OMIM:619501
HP:0011283	Abnormal metencephalon morphology	5073	PARN	OMIM:616353
HP:0011283	Abnormal metencephalon morphology	5073	PARN	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	23036	ZNF292	OMIM:619188
HP:0011283	Abnormal metencephalon morphology	55154	MSTO1	ORPHA:502423
HP:0011283	Abnormal metencephalon morphology	4247	MGAT2	OMIM:212066
HP:0011283	Abnormal metencephalon morphology	4247	MGAT2	ORPHA:79329
HP:0011283	Abnormal metencephalon morphology	23265	EXOC7	OMIM:619072
HP:0011283	Abnormal metencephalon morphology	1798	DPAGT1	ORPHA:86309
HP:0011283	Abnormal metencephalon morphology	84879	MFSD2A	OMIM:616486
HP:0011283	Abnormal metencephalon morphology	10013	HDAC6	ORPHA:163966
HP:0011283	Abnormal metencephalon morphology	6134	RPL10	ORPHA:459070
HP:0011283	Abnormal metencephalon morphology	6134	RPL10	OMIM:300998
HP:0011283	Abnormal metencephalon morphology	55165	CEP55	OMIM:236500
HP:0011283	Abnormal metencephalon morphology	5605	MAP2K2	OMIM:615280
HP:0011283	Abnormal metencephalon morphology	79813	EHMT1	ORPHA:261652
HP:0011283	Abnormal metencephalon morphology	58508	KMT2C	ORPHA:261652
HP:0011283	Abnormal metencephalon morphology	8818	DPM2	OMIM:615042
HP:0011283	Abnormal metencephalon morphology	8818	DPM2	ORPHA:329178
HP:0011283	Abnormal metencephalon morphology	9474	ATG5	OMIM:617584
HP:0011283	Abnormal metencephalon morphology	51322	WAC	ORPHA:284169
HP:0011283	Abnormal metencephalon morphology	55120	FANCL	OMIM:614083
HP:0011283	Abnormal metencephalon morphology	10735	STAG2	ORPHA:521258
HP:0011283	Abnormal metencephalon morphology	2146	EZH2	OMIM:277590
HP:0011283	Abnormal metencephalon morphology	29929	ALG6	ORPHA:79320
HP:0011283	Abnormal metencephalon morphology	51750	RTEL1	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	51750	RTEL1	OMIM:615190
HP:0011283	Abnormal metencephalon morphology	65057	ACD	ORPHA:3322
HP:0011283	Abnormal metencephalon morphology	65057	ACD	OMIM:616553
HP:0011283	Abnormal metencephalon morphology	79087	ALG12	ORPHA:79324
HP:0011283	Abnormal metencephalon morphology	10533	ATG7	OMIM:619422
HP:0011283	Abnormal metencephalon morphology	6576	SLC25A1	OMIM:615182
HP:0011283	Abnormal metencephalon morphology	51362	CDC40	OMIM:619302
HP:0011283	Abnormal metencephalon morphology	51117	COQ4	OMIM:616276
HP:0011283	Abnormal metencephalon morphology	55656	INTS8	OMIM:618572
HP:0011283	Abnormal metencephalon morphology	30000	TNPO2	OMIM:619556
HP:0011283	Abnormal metencephalon morphology	2187	FANCB	OMIM:300514
HP:0011283	Abnormal metencephalon morphology	2879	GPX4	ORPHA:93317
HP:0011283	Abnormal metencephalon morphology	55593	OTUD5	OMIM:301056
HP:0011283	Abnormal metencephalon morphology	1062	CENPE	OMIM:616051
HP:0011283	Abnormal metencephalon morphology	27185	DISC1	ORPHA:171703
HP:0011283	Abnormal metencephalon morphology	8320	EOMES	ORPHA:171703
HP:0011283	Abnormal metencephalon morphology	7012	TERC	OMIM:127550
HP:0011283	Abnormal metencephalon morphology	7547	ZIC3	OMIM:306955
HP:0011283	Abnormal metencephalon morphology	4784	NFIX	OMIM:602535
HP:0011283	Abnormal metencephalon morphology	4784	NFIX	ORPHA:561
HP:0011283	Abnormal metencephalon morphology	23221	RHOBTB2	OMIM:618004
HP:0011283	Abnormal metencephalon morphology	79641	ROGDI	OMIM:226750
HP:0011283	Abnormal metencephalon morphology	11274	USP18	OMIM:617397
HP:0011283	Abnormal metencephalon morphology	26007	TKFC	OMIM:618805
HP:0011283	Abnormal metencephalon morphology	6821	SUOX	OMIM:272300
HP:0011283	Abnormal metencephalon morphology	4700	NDUFA6	OMIM:618253
HP:0011283	Abnormal metencephalon morphology	3188	HNRNPH2	OMIM:300986
HP:0011283	Abnormal metencephalon morphology	80347	COASY	OMIM:618266
HP:0011283	Abnormal metencephalon morphology	340075	ARSI	ORPHA:401815
HP:0011283	Abnormal metencephalon morphology	57003	CCDC47	OMIM:618268
HP:0011283	Abnormal metencephalon morphology	112858	TP53RK	OMIM:617730
HP:0011283	Abnormal metencephalon morphology	27107	ZBTB11	OMIM:618383
HP:0011283	Abnormal metencephalon morphology	5162	PDHB	ORPHA:255138
HP:0011283	Abnormal metencephalon morphology	4841	NONO	OMIM:300967
HP:0011283	Abnormal metencephalon morphology	4841	NONO	ORPHA:466791
HP:0011283	Abnormal metencephalon morphology	51124	IER3IP1	OMIM:614231
HP:0011283	Abnormal metencephalon morphology	202018	TAPT1	OMIM:616897
HP:0011283	Abnormal metencephalon morphology	7291	TWIST1	OMIM:617746
HP:0011283	Abnormal metencephalon morphology	100506658	OCLN	OMIM:251290
HP:0011283	Abnormal metencephalon morphology	93587	TRMT10A	ORPHA:391408
HP:0011283	Abnormal metencephalon morphology	84919	PPP1R15B	ORPHA:391408
HP:0011283	Abnormal metencephalon morphology	259266	ASPM	OMIM:608716
HP:0011283	Abnormal metencephalon morphology	1719	DHFR	OMIM:613839
HP:0011283	Abnormal metencephalon morphology	55074	OXR1	OMIM:213000
HP:0011283	Abnormal metencephalon morphology	57647	DHX37	OMIM:618731
HP:0011283	Abnormal metencephalon morphology	18	ABAT	OMIM:613163
HP:0011283	Abnormal metencephalon morphology	1496	CTNNA2	OMIM:618174
HP:0011283	Abnormal metencephalon morphology	498	ATP5F1A	OMIM:615228
HP:0011283	Abnormal metencephalon morphology	4953	ODC1	OMIM:619075
HP:0011283	Abnormal metencephalon morphology	9851	KIAA0753	OMIM:619479
HP:0011283	Abnormal metencephalon morphology	5879	RAC1	OMIM:617751
HP:0011283	Abnormal metencephalon morphology	64840	PORCN	OMIM:305600
HP:0011283	Abnormal metencephalon morphology	2294	FOXF1	OMIM:265380
HP:0011283	Abnormal metencephalon morphology	5251	PHEX	ORPHA:89936
HP:0011283	Abnormal metencephalon morphology	5447	POR	OMIM:201750
HP:0011283	Abnormal metencephalon morphology	5447	POR	ORPHA:95699
HP:0011283	Abnormal metencephalon morphology	6309	SC5D	ORPHA:46059
HP:0011283	Abnormal metencephalon morphology	6309	SC5D	OMIM:607330
HP:0011283	Abnormal metencephalon morphology	3590	IL11RA	OMIM:614188
HP:0011283	Abnormal metencephalon morphology	4659	PPP1R12A	OMIM:618820
HP:0011283	Abnormal metencephalon morphology	6804	STX1A	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	7461	CLIP2	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	84277	DNAJC30	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	8468	FKBP6	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	5982	RFC2	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	2969	GTF2I	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	3984	LIMK1	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	9569	GTF2IRD1	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	155382	VPS37D	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	155368	METTL27	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	114049	BUD23	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	7458	EIF4H	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	84163	GTF2IRD2	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	9275	BCL7B	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	26608	TBL2	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	653361	NCF1	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	135886	TMEM270	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	51085	MLXIPL	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	9031	BAZ1B	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	2006	ELN	ORPHA:904
HP:0011283	Abnormal metencephalon morphology	22800	RRAS2	OMIM:618624
HP:0011283	Abnormal metencephalon morphology	10992	SF3B2	OMIM:164210
HP:0011283	Abnormal metencephalon morphology	1788	DNMT3A	ORPHA:404443
HP:0011283	Abnormal metencephalon morphology	11128	POLR3A	OMIM:264090
HP:0011283	Abnormal metencephalon morphology	4796	TONSL	ORPHA:93357
HP:0011283	Abnormal metencephalon morphology	4796	TONSL	OMIM:271510
HP:0011283	Abnormal metencephalon morphology	81839	VANGL1	ORPHA:3027
HP:0011283	Abnormal metencephalon morphology	80199	FUZ	ORPHA:3027
HP:0011283	Abnormal metencephalon morphology	5745	PTH1R	OMIM:600002
HP:0011283	Abnormal metencephalon morphology	4125	MAN2B1	ORPHA:309282
HP:0011283	Abnormal metencephalon morphology	79718	TBL1XR1	OMIM:602342
HP:0011283	Abnormal metencephalon morphology	79718	TBL1XR1	ORPHA:487825
HP:0011283	Abnormal metencephalon morphology	1387	CREBBP	ORPHA:353281
HP:0011283	Abnormal metencephalon morphology	1387	CREBBP	ORPHA:353277
HP:0011283	Abnormal metencephalon morphology	29998	BICRA	OMIM:619325
HP:0011283	Abnormal metencephalon morphology	55159	RFWD3	OMIM:617784
HP:0011283	Abnormal metencephalon morphology	55215	FANCI	OMIM:609053
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	OMIM:123790
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	ORPHA:87
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	ORPHA:93260
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	ORPHA:207
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	ORPHA:93259
HP:0011283	Abnormal metencephalon morphology	2263	FGFR2	OMIM:101600
HP:0011283	Abnormal metencephalon morphology	2033	EP300	ORPHA:353284
HP:0011283	Abnormal metencephalon morphology	6299	SALL1	ORPHA:857
HP:0011283	Abnormal metencephalon morphology	51339	DACT1	ORPHA:857
HP:0011283	Abnormal metencephalon morphology	23387	SIK3	OMIM:618162
HP:0011283	Abnormal metencephalon morphology	6651	SON	ORPHA:500150
HP:0011283	Abnormal metencephalon morphology	1108	CHD4	OMIM:617159
HP:0011283	Abnormal metencephalon morphology	7048	TGFBR2	OMIM:610168
HP:0011283	Abnormal metencephalon morphology	2077	ERF	ORPHA:207
HP:0011283	Abnormal metencephalon morphology	2316	FLNA	ORPHA:1826
HP:0011283	Abnormal metencephalon morphology	6885	MAP3K7	ORPHA:1826
HP:0011283	Abnormal metencephalon morphology	2776	GNAQ	ORPHA:3205
HP:0011283	Abnormal metencephalon morphology	1513	CTSK	ORPHA:763
HP:0011283	Abnormal metencephalon morphology	9401	RECQL4	OMIM:218600
HP:0011283	Abnormal metencephalon morphology	8091	HMGA2	ORPHA:94063
HP:0011283	Abnormal metencephalon morphology	23592	LEMD3	ORPHA:94063
HP:0011283	Abnormal metencephalon morphology	54903	MKS1	OMIM:249000
HP:0011283	Abnormal metencephalon morphology	4854	NOTCH3	ORPHA:2789
HP:0011283	Abnormal metencephalon morphology	7046	TGFBR1	OMIM:609192
HP:0011283	Abnormal metencephalon morphology	2200	FBN1	ORPHA:2462
HP:0011283	Abnormal metencephalon morphology	6497	SKI	ORPHA:2462
HP:0011283	Abnormal metencephalon morphology	4853	NOTCH2	ORPHA:955
HP:0011283	Abnormal metencephalon morphology	4644	MYO5A	ORPHA:33445
HP:0011283	Abnormal metencephalon morphology	51763	INPP5K	ORPHA:559
HP:0011283	Abnormal metencephalon morphology	4208	MEF2C	ORPHA:228384
HP:0011283	Abnormal metencephalon morphology	60529	ALX4	OMIM:613451
HP:0011283	Abnormal metencephalon morphology	60529	ALX4	ORPHA:228390
HP:0011283	Abnormal metencephalon morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011283	Abnormal metencephalon morphology	80184	CEP290	OMIM:611134
HP:0011283	Abnormal metencephalon morphology	80184	CEP290	OMIM:610188
HP:0011283	Abnormal metencephalon morphology	3839	KPNA3	OMIM:620106
HP:0011283	Abnormal metencephalon morphology	65062	TMEM237	OMIM:614424
HP:0011283	Abnormal metencephalon morphology	256297	PTF1A	OMIM:609069
HP:0011283	Abnormal metencephalon morphology	9839	ZEB2	ORPHA:261537
HP:0011283	Abnormal metencephalon morphology	9839	ZEB2	ORPHA:261552
HP:0011283	Abnormal metencephalon morphology	7020	TFAP2A	OMIM:113620
HP:0011283	Abnormal metencephalon morphology	11041	B4GAT1	OMIM:615287
HP:0011283	Abnormal metencephalon morphology	5147	PDE6D	OMIM:615665
HP:0011283	Abnormal metencephalon morphology	9928	KIF14	OMIM:616258
HP:0011283	Abnormal metencephalon morphology	4598	MVK	OMIM:610377
HP:0011283	Abnormal metencephalon morphology	26123	TCTN3	OMIM:614815
HP:0011283	Abnormal metencephalon morphology	79659	DYNC2H1	OMIM:613091
HP:0011283	Abnormal metencephalon morphology	1281	COL3A1	OMIM:618343
HP:0011283	Abnormal metencephalon morphology	79042	TSEN34	ORPHA:2524
HP:0011283	Abnormal metencephalon morphology	80746	TSEN2	ORPHA:2524
HP:0011283	Abnormal metencephalon morphology	51091	SEPSECS	ORPHA:2524
HP:0011283	Abnormal metencephalon morphology	8481	OFD1	OMIM:311200
HP:0011283	Abnormal metencephalon morphology	729920	CRPPA	ORPHA:370980
HP:0011283	Abnormal metencephalon morphology	9361	LONP1	ORPHA:79243
HP:0011283	Abnormal metencephalon morphology	5160	PDHA1	ORPHA:79243
HP:0011283	Abnormal metencephalon morphology	4519	MT-CYB	ORPHA:137675
HP:0011283	Abnormal metencephalon morphology	1161	ERCC8	ORPHA:90324
HP:0011283	Abnormal metencephalon morphology	727676	SNORD118	ORPHA:542310
HP:0011283	Abnormal metencephalon morphology	6575	SLC20A2	OMIM:213600
HP:0011283	Abnormal metencephalon morphology	5155	PDGFB	OMIM:213600
HP:0011283	Abnormal metencephalon morphology	5159	PDGFRB	OMIM:213600
HP:0011283	Abnormal metencephalon morphology	54902	TTC19	OMIM:615157
HP:0011283	Abnormal metencephalon morphology	51360	MBTPS2	OMIM:308205
HP:0011283	Abnormal metencephalon morphology	2074	ERCC6	OMIM:278800
HP:0011283	Abnormal metencephalon morphology	27235	COQ2	OMIM:146500
HP:0011283	Abnormal metencephalon morphology	6310	ATXN1	OMIM:164400
HP:0011283	Abnormal metencephalon morphology	6314	ATXN7	OMIM:164500
HP:0011283	Abnormal metencephalon morphology	6311	ATXN2	OMIM:183090
HP:0011283	Abnormal metencephalon morphology	25782	RAB3GAP2	ORPHA:401830
HP:0011283	Abnormal metencephalon morphology	4281	MID1	ORPHA:2745
HP:0011283	Abnormal metencephalon morphology	95	ACY1	ORPHA:137754
HP:0011283	Abnormal metencephalon morphology	3769	KCNJ13	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	343035	RD3	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	145226	RDH12	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	1406	CRX	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	64802	NMNAT1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	57096	RPGRIP1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	10383	TUBB4B	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	9742	IFT140	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	85015	USP45	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	6121	RPE65	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	23418	CRB1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	5130	PCYT1A	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	9657	IQCB1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	392255	GDF6	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	23746	AIPL1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	3000	GUCY2D	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	9227	LRAT	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	55812	SPATA7	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	7287	TULP1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	167691	LCA5	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	3614	IMPDH1	ORPHA:65
HP:0011283	Abnormal metencephalon morphology	80055	PGAP1	ORPHA:401820
HP:0011283	Abnormal metencephalon morphology	8450	CUL4B	OMIM:300354
HP:0011283	Abnormal metencephalon morphology	375	ARF1	OMIM:618185
HP:0011283	Abnormal metencephalon morphology	9698	PUM1	OMIM:617931
HP:0011283	Abnormal metencephalon morphology	4311	MME	OMIM:617018
HP:0011283	Abnormal metencephalon morphology	4311	MME	ORPHA:497764
HP:0011283	Abnormal metencephalon morphology	9254	CACNA2D2	OMIM:618501
HP:0011283	Abnormal metencephalon morphology	26047	CNTNAP2	ORPHA:163681
HP:0011283	Abnormal metencephalon morphology	5859	QARS1	OMIM:615760
HP:0011283	Abnormal metencephalon morphology	53335	BCL11A	OMIM:617101
HP:0011283	Abnormal metencephalon morphology	1742	DLG4	OMIM:618793
HP:0011283	Abnormal metencephalon morphology	4010	LMX1B	ORPHA:495818
HP:0011283	Abnormal metencephalon morphology	6812	STXBP1	ORPHA:495818
HP:0011283	Abnormal metencephalon morphology	11261	CHP1	OMIM:618438
HP:0011283	Abnormal metencephalon morphology	5354	PLP1	OMIM:312080
HP:0011283	Abnormal metencephalon morphology	116228	COX20	OMIM:619054
HP:0011283	Abnormal metencephalon morphology	7518	XRCC4	OMIM:616541
HP:0011283	Abnormal metencephalon morphology	57410	SCYL1	ORPHA:466794
HP:0011283	Abnormal metencephalon morphology	57410	SCYL1	OMIM:616719
HP:0011283	Abnormal metencephalon morphology	6095	RORA	OMIM:618060
HP:0011283	Abnormal metencephalon morphology	1213	CLTC	OMIM:617854
HP:0011283	Abnormal metencephalon morphology	440193	CCDC88C	OMIM:616053
HP:0011283	Abnormal metencephalon morphology	440193	CCDC88C	ORPHA:423275
HP:0011283	Abnormal metencephalon morphology	3908	LAMA2	ORPHA:258
HP:0011283	Abnormal metencephalon morphology	7428	VHL	ORPHA:892
HP:0011283	Abnormal metencephalon morphology	7428	VHL	OMIM:193300
HP:0011283	Abnormal metencephalon morphology	595	CCND1	ORPHA:892
HP:0011283	Abnormal metencephalon morphology	595	CCND1	OMIM:193300
HP:0011283	Abnormal metencephalon morphology	4983	OPHN1	OMIM:300486
HP:0011283	Abnormal metencephalon morphology	4983	OPHN1	ORPHA:137831
HP:0011283	Abnormal metencephalon morphology	2892	GRIA3	ORPHA:364028
HP:0011283	Abnormal metencephalon morphology	160418	TMTC3	OMIM:617255
HP:0011283	Abnormal metencephalon morphology	27245	AHDC1	ORPHA:412069
HP:0011283	Abnormal metencephalon morphology	27245	AHDC1	OMIM:615829
HP:0011283	Abnormal metencephalon morphology	2911	GRM1	OMIM:614831
HP:0011283	Abnormal metencephalon morphology	57688	ZSWIM6	ORPHA:1827
HP:0011283	Abnormal metencephalon morphology	57688	ZSWIM6	OMIM:603671
HP:0011283	Abnormal metencephalon morphology	57572	DOCK6	OMIM:614219
HP:0011283	Abnormal metencephalon morphology	5518	PPP2R1A	ORPHA:457284
HP:0011283	Abnormal metencephalon morphology	10528	NOP56	ORPHA:276198
HP:0011283	Abnormal metencephalon morphology	8913	CACNA1G	OMIM:616795
HP:0011283	Abnormal metencephalon morphology	29899	GPSM2	OMIM:604213
HP:0011283	Abnormal metencephalon morphology	10367	MICU1	OMIM:615673
HP:0011283	Abnormal metencephalon morphology	998	CDC42	ORPHA:487796
HP:0011283	Abnormal metencephalon morphology	27286	SRPX2	ORPHA:98889
HP:0011283	Abnormal metencephalon morphology	10329	RXYLT1	OMIM:615041
HP:0011283	Abnormal metencephalon morphology	84162	BLTP1	OMIM:617822
HP:0011283	Abnormal metencephalon morphology	57187	THOC2	ORPHA:457240
HP:0011283	Abnormal metencephalon morphology	9382	COG1	ORPHA:263508
HP:0011283	Abnormal metencephalon morphology	124997	WDR81	OMIM:610185
HP:0011283	Abnormal metencephalon morphology	1822	ATN1	OMIM:125370
HP:0011283	Abnormal metencephalon morphology	63895	PIEZO2	OMIM:248700
HP:0011283	Abnormal metencephalon morphology	3897	L1CAM	OMIM:304100
HP:0011283	Abnormal metencephalon morphology	652	BMP4	OMIM:607932
HP:0011283	Abnormal metencephalon morphology	652	BMP4	ORPHA:139471
HP:0011283	Abnormal metencephalon morphology	83696	TRAPPC9	OMIM:613192
HP:0011283	Abnormal metencephalon morphology	80816	ASXL3	OMIM:615485
HP:0011283	Abnormal metencephalon morphology	26173	INTS1	OMIM:618571
HP:0011283	Abnormal metencephalon morphology	50628	GEMIN4	OMIM:617913
HP:0011283	Abnormal metencephalon morphology	6608	SMO	OMIM:601707
HP:0011283	Abnormal metencephalon morphology	6608	SMO	OMIM:241800
HP:0011283	Abnormal metencephalon morphology	4774	NFIA	OMIM:613735
HP:0011283	Abnormal metencephalon morphology	4774	NFIA	ORPHA:401986
HP:0011283	Abnormal metencephalon morphology	80036	TRPM3	OMIM:620224
HP:0011283	Abnormal metencephalon morphology	10283	CWC27	ORPHA:166035
HP:0011283	Abnormal metencephalon morphology	284058	KANSL1	ORPHA:363965
HP:0011283	Abnormal metencephalon morphology	284058	KANSL1	ORPHA:363958
HP:0011283	Abnormal metencephalon morphology	4094	MAF	ORPHA:1272
HP:0011283	Abnormal metencephalon morphology	4094	MAF	OMIM:601088
HP:0011283	Abnormal metencephalon morphology	8318	CDC45	OMIM:617063
HP:0011283	Abnormal metencephalon morphology	9772	TMEM94	OMIM:618316
HP:0011283	Abnormal metencephalon morphology	57551	TAOK1	OMIM:619575
HP:0011283	Abnormal metencephalon morphology	10274	STAG1	OMIM:617635
HP:0011283	Abnormal metencephalon morphology	4791	NFKB2	OMIM:615577
HP:0011283	Abnormal metencephalon morphology	22943	DKK1	ORPHA:268882
HP:0011283	Abnormal metencephalon morphology	79947	DHDDS	OMIM:617836
HP:0011283	Abnormal metencephalon morphology	5076	PAX2	OMIM:120330
HP:0011283	Abnormal metencephalon morphology	25970	SH2B1	ORPHA:261197
HP:0011283	Abnormal metencephalon morphology	5888	RAD51	OMIM:617244
HP:0011283	Abnormal metencephalon morphology	4858	NOVA2	OMIM:618859
HP:0011283	Abnormal metencephalon morphology	161742	SPRED1	ORPHA:137605
HP:0011283	Abnormal metencephalon morphology	26040	SETBP1	ORPHA:798
HP:0011283	Abnormal metencephalon morphology	5190	PEX6	ORPHA:95433
HP:0011283	Abnormal metencephalon morphology	58494	JAM2	OMIM:618824
HP:0011283	Abnormal metencephalon morphology	11277	TREX1	OMIM:225750
HP:0011283	Abnormal metencephalon morphology	23476	BRD4	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	9126	SMC3	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	8243	SMC1A	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	25836	NIPBL	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	55869	HDAC8	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	5885	RAD21	ORPHA:199
HP:0011283	Abnormal metencephalon morphology	5396	PRRX1	ORPHA:990
HP:0011283	Abnormal metencephalon morphology	5015	OTX2	ORPHA:990
HP:0011283	Abnormal metencephalon morphology	5015	OTX2	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	7399	USH2A	ORPHA:231178
HP:0011283	Abnormal metencephalon morphology	79955	PDZD7	ORPHA:231178
HP:0011283	Abnormal metencephalon morphology	4647	MYO7A	ORPHA:231178
HP:0011283	Abnormal metencephalon morphology	4647	MYO7A	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	25861	WHRN	ORPHA:231178
HP:0011283	Abnormal metencephalon morphology	84059	ADGRV1	ORPHA:231178
HP:0011283	Abnormal metencephalon morphology	27238	GPKOW	ORPHA:2570
HP:0011283	Abnormal metencephalon morphology	6197	RPS6KA3	ORPHA:192
HP:0011283	Abnormal metencephalon morphology	3265	HRAS	ORPHA:2612
HP:0011283	Abnormal metencephalon morphology	3845	KRAS	ORPHA:2612
HP:0011283	Abnormal metencephalon morphology	4893	NRAS	ORPHA:2612
HP:0011283	Abnormal metencephalon morphology	5290	PIK3CA	ORPHA:60040
HP:0011283	Abnormal metencephalon morphology	8239	USP9X	ORPHA:480880
HP:0011283	Abnormal metencephalon morphology	4567	MT-TL1	ORPHA:225
HP:0011283	Abnormal metencephalon morphology	4556	MT-TE	ORPHA:225
HP:0011283	Abnormal metencephalon morphology	4566	MT-TK	ORPHA:225
HP:0011283	Abnormal metencephalon morphology	2218	FKTN	ORPHA:588
HP:0011283	Abnormal metencephalon morphology	8905	AP1S2	ORPHA:1568
HP:0011283	Abnormal metencephalon morphology	2737	GLI3	ORPHA:36
HP:0011283	Abnormal metencephalon morphology	374654	KIF7	ORPHA:36
HP:0011283	Abnormal metencephalon morphology	22858	CILK1	OMIM:612651
HP:0011283	Abnormal metencephalon morphology	9640	ZNF592	ORPHA:83472
HP:0011283	Abnormal metencephalon morphology	84942	WDR73	ORPHA:83472
HP:0011283	Abnormal metencephalon morphology	1717	DHCR7	ORPHA:818
HP:0011283	Abnormal metencephalon morphology	55636	CHD7	ORPHA:138
HP:0011283	Abnormal metencephalon morphology	9723	SEMA3E	ORPHA:138
HP:0011283	Abnormal metencephalon morphology	387119	CEP85L	ORPHA:572013
HP:0011283	Abnormal metencephalon morphology	389827	MYMK	ORPHA:1358
HP:0011283	Abnormal metencephalon morphology	101929726	MYMX	ORPHA:1358
HP:0011283	Abnormal metencephalon morphology	2261	FGFR3	ORPHA:93262
HP:0011283	Abnormal metencephalon morphology	10479	SLC9A6	ORPHA:85278
HP:0011283	Abnormal metencephalon morphology	2068	ERCC2	ORPHA:1466
HP:0011283	Abnormal metencephalon morphology	2067	ERCC1	ORPHA:1466
HP:0011283	Abnormal metencephalon morphology	2073	ERCC5	ORPHA:1466
HP:0011283	Abnormal metencephalon morphology	85378	TUBGCP6	ORPHA:2518
HP:0011283	Abnormal metencephalon morphology	27229	TUBGCP4	ORPHA:2518
HP:0011283	Abnormal metencephalon morphology	4693	NDP	ORPHA:649
HP:0011283	Abnormal metencephalon morphology	2697	GJA1	ORPHA:2710
HP:0011283	Abnormal metencephalon morphology	9897	WASHC5	ORPHA:7
HP:0011283	Abnormal metencephalon morphology	28952	CCDC22	ORPHA:7
HP:0011283	Abnormal metencephalon morphology	64072	CDH23	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	10083	USH1C	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	124590	USH1G	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	83715	ESPN	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	10518	CIB2	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	65217	PCDH15	ORPHA:231169
HP:0011283	Abnormal metencephalon morphology	4524	MTHFR	ORPHA:563612
HP:0011283	Abnormal metencephalon morphology	57216	VANGL2	ORPHA:563612
HP:0011283	Abnormal metencephalon morphology	10815	CPLX1	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	54872	PIGG	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	7469	NELFA	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	1487	CTBP1	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	3954	LETM1	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	7468	NSD2	ORPHA:280
HP:0011283	Abnormal metencephalon morphology	9184	BUB3	ORPHA:1052
HP:0011283	Abnormal metencephalon morphology	699	BUB1	ORPHA:1052
HP:0011283	Abnormal metencephalon morphology	9702	CEP57	ORPHA:1052
HP:0011283	Abnormal metencephalon morphology	9319	TRIP13	ORPHA:1052
HP:0011283	Abnormal metencephalon morphology	701	BUB1B	ORPHA:1052
HP:0011283	Abnormal metencephalon morphology	23322	RPGRIP1L	ORPHA:1454
HP:0011283	Abnormal metencephalon morphology	57545	CC2D2A	ORPHA:1454
HP:0011283	Abnormal metencephalon morphology	219285	SAMD9L	ORPHA:2585
HP:0011283	Abnormal metencephalon morphology	2260	FGFR1	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	128674	PROKR2	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	6657	SOX2	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	6658	SOX3	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	9915	ARNT2	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	8820	HESX1	ORPHA:3157
HP:0011283	Abnormal metencephalon morphology	4668	NAGA	ORPHA:79279
HP:0011283	Abnormal metencephalon morphology	79944	L2HGDH	ORPHA:79314
HP:0011283	Abnormal metencephalon morphology	5277	PIGA	OMIM:300868
HP:0011283	Abnormal metencephalon morphology	2581	GALC	ORPHA:206448
HP:0011283	Abnormal metencephalon morphology	1605	DAG1	ORPHA:370997
HP:0011283	Abnormal metencephalon morphology	3417	IDH1	ORPHA:99646
HP:0011283	Abnormal metencephalon morphology	9373	PLAA	ORPHA:521426
HP:0011283	Abnormal metencephalon morphology	8882	ZPR1	OMIM:619321
HP:0011283	Abnormal metencephalon morphology	85358	SHANK3	ORPHA:48652
HP:0011283	Abnormal metencephalon morphology	1593	CYP27A1	ORPHA:909
HP:0011283	Abnormal metencephalon morphology	26278	SACS	ORPHA:98
HP:0011283	Abnormal metencephalon morphology	4001	LMNB1	ORPHA:99027
HP:0011283	Abnormal metencephalon morphology	2313	FLI1	ORPHA:370348
HP:0011283	Abnormal metencephalon morphology	54806	AHI1	OMIM:608629
HP:0011283	Abnormal metencephalon morphology	79848	CSPP1	ORPHA:397715
HP:0011283	Abnormal metencephalon morphology	79848	CSPP1	OMIM:615636
HP:0011283	Abnormal metencephalon morphology	9786	KIAA0586	ORPHA:397715
HP:0011283	Abnormal metencephalon morphology	403	ARL3	OMIM:618161
HP:0011283	Abnormal metencephalon morphology	284217	LAMA1	ORPHA:370022
HP:0011283	Abnormal metencephalon morphology	51259	TMEM216	OMIM:608091
HP:0011283	Abnormal metencephalon morphology	56623	INPP5E	OMIM:213300
HP:0011283	Abnormal metencephalon morphology	91147	TMEM67	OMIM:610688
HP:0011283	Abnormal metencephalon morphology	1182	CLCN3	OMIM:619512
HP:0011283	Abnormal metencephalon morphology	4867	NPHP1	OMIM:609583
HP:0011283	Abnormal metencephalon morphology	10015	PDCD6IP	OMIM:620047
HP:0011283	Abnormal metencephalon morphology	23028	KDM1A	ORPHA:477993
HP:0011283	Abnormal metencephalon morphology	29925	GMPPB	OMIM:615350
HP:0011283	Abnormal metencephalon morphology	29925	GMPPB	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	55773	TBC1D23	OMIM:617695
HP:0011283	Abnormal metencephalon morphology	94005	PIGS	OMIM:618143
HP:0011283	Abnormal metencephalon morphology	2972	BRF1	OMIM:616202
HP:0011283	Abnormal metencephalon morphology	2972	BRF1	ORPHA:444072
HP:0011283	Abnormal metencephalon morphology	8573	CASK	OMIM:300749
HP:0011283	Abnormal metencephalon morphology	11340	EXOSC8	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	5393	EXOSC9	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	23287	AGTPBP1	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	23287	AGTPBP1	OMIM:618276
HP:0011283	Abnormal metencephalon morphology	51010	EXOSC3	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	7443	VRK1	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	7443	VRK1	OMIM:607596
HP:0011283	Abnormal metencephalon morphology	91137	SLC25A46	ORPHA:2254
HP:0011283	Abnormal metencephalon morphology	91137	SLC25A46	OMIM:619303
HP:0011283	Abnormal metencephalon morphology	85440	DOCK7	ORPHA:411986
HP:0011283	Abnormal metencephalon morphology	85440	DOCK7	OMIM:615859
HP:0011283	Abnormal metencephalon morphology	25914	RTTN	ORPHA:468631
HP:0011283	Abnormal metencephalon morphology	5649	RELN	OMIM:257320
HP:0011283	Abnormal metencephalon morphology	23126	POGZ	ORPHA:468678
HP:0011283	Abnormal metencephalon morphology	9289	ADGRG1	ORPHA:101070
HP:0011283	Abnormal metencephalon morphology	9289	ADGRG1	OMIM:606854
HP:0011283	Abnormal metencephalon morphology	5728	PTEN	ORPHA:101070
HP:0011283	Abnormal metencephalon morphology	724066	ATXN8	ORPHA:98760
HP:0011283	Abnormal metencephalon morphology	6315	ATXN8OS	ORPHA:98760
HP:0011283	Abnormal metencephalon morphology	79147	FKRP	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	79147	FKRP	OMIM:613153
HP:0011283	Abnormal metencephalon morphology	29954	POMT2	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	84197	POMK	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	55624	POMGNT1	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	55624	POMGNT1	OMIM:613151
HP:0011283	Abnormal metencephalon morphology	10585	POMT1	ORPHA:370959
HP:0011283	Abnormal metencephalon morphology	10733	PLK4	OMIM:616171
HP:0011283	Abnormal metencephalon morphology	51112	TRAPPC12	ORPHA:500144
HP:0011283	Abnormal metencephalon morphology	51112	TRAPPC12	OMIM:617669
HP:0011283	Abnormal metencephalon morphology	283989	TSEN54	OMIM:225753
HP:0011283	Abnormal metencephalon morphology	283989	TSEN54	OMIM:277470
HP:0011283	Abnormal metencephalon morphology	116461	TSEN15	OMIM:617026
HP:0011283	Abnormal metencephalon morphology	1630	DCC	OMIM:617542
HP:0011283	Abnormal metencephalon morphology	28514	DLL1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	2253	FGF8	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	6496	SIX3	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	7050	TGIF1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	4838	NODAL	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	6469	SHH	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	7546	ZIC2	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	6491	STIL	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	2619	GAS1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	84976	DISP1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	2736	GLI2	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	8928	FOXH1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	5727	PTCH1	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	50937	CDON	ORPHA:280195
HP:0011283	Abnormal metencephalon morphology	473	RERE	OMIM:616975
HP:0011283	Abnormal metencephalon morphology	4190	MDH1	OMIM:618959
HP:0011283	Abnormal metencephalon morphology	10297	APC2	OMIM:618677
HP:0011283	Abnormal metencephalon morphology	4081	MAB21L1	OMIM:618479
HP:0011283	Abnormal metencephalon morphology	9562	MINPP1	OMIM:619527
HP:0011283	Abnormal metencephalon morphology	29072	SETD2	OMIM:620157
HP:0011283	Abnormal metencephalon morphology	29072	SETD2	OMIM:620155
HP:0011283	Abnormal metencephalon morphology	64221	ROBO3	OMIM:607313
HP:0011283	Abnormal metencephalon morphology	271	AMPD2	OMIM:615809
HP:0011283	Abnormal metencephalon morphology	57231	SNX14	ORPHA:397709
HP:0011283	Abnormal metencephalon morphology	6595	SMARCA2	OMIM:619293
HP:0011283	Abnormal metencephalon morphology	347733	TUBB2B	ORPHA:467166
HP:0011283	Abnormal metencephalon morphology	347733	TUBB2B	ORPHA:300573
HP:0011283	Abnormal metencephalon morphology	7846	TUBA1A	ORPHA:467166
HP:0011283	Abnormal metencephalon morphology	10381	TUBB3	ORPHA:467166
HP:0011283	Abnormal metencephalon morphology	440	ASNS	OMIM:615574
HP:0011283	Abnormal metencephalon morphology	9215	LARGE1	OMIM:613154
HP:0011283	Abnormal metencephalon morphology	10273	STUB1	ORPHA:412057
HP:0011283	Abnormal metencephalon morphology	738	VPS51	OMIM:618606
HP:0011283	Abnormal metencephalon morphology	23499	MACF1	OMIM:618325
HP:0011283	Abnormal metencephalon morphology	9439	MED23	OMIM:614249
HP:0011283	Abnormal metencephalon morphology	114034	TOE1	OMIM:614969
HP:0011283	Abnormal metencephalon morphology	10195	ALG3	ORPHA:79321
HP:0011283	Abnormal metencephalon morphology	148789	B3GALNT2	OMIM:615181
HP:0011283	Abnormal metencephalon morphology	191	AHCY	ORPHA:88618
HP:0011283	Abnormal metencephalon morphology	51645	PPIL1	OMIM:619301
HP:0011283	Abnormal metencephalon morphology	8884	SLC5A6	OMIM:618973
HP:0011283	Abnormal metencephalon morphology	92935	MARS2	OMIM:616430
HP:0011283	Abnormal metencephalon morphology	7471	WNT1	OMIM:615220
HP:0011283	Abnormal metencephalon morphology	7545	ZIC1	OMIM:618736
HP:0011283	Abnormal metencephalon morphology	10243	GPHN	OMIM:615501
HP:0011283	Abnormal metencephalon morphology	9181	ARHGEF2	OMIM:617523
HP:0011283	Abnormal metencephalon morphology	51013	EXOSC1	OMIM:619304
HP:0011283	Abnormal metencephalon morphology	7319	UBE2A	ORPHA:163956
HP:0011283	Abnormal metencephalon morphology	57724	EPG5	ORPHA:1493
HP:0011283	Abnormal metencephalon morphology	27445	PCLO	OMIM:608027
HP:0011283	Abnormal metencephalon morphology	5297	PI4KA	OMIM:619708
HP:0011283	Abnormal metencephalon morphology	59336	PRDM13	OMIM:619909
HP:0011283	Abnormal metencephalon morphology	2019	EN1	OMIM:619218
HP:0011283	Abnormal metencephalon morphology	8398	PLA2G6	ORPHA:35069
HP:0011283	Abnormal metencephalon morphology	84667	HES7	OMIM:613686
HP:0011283	Abnormal metencephalon morphology	128240	NAXE	OMIM:617186
HP:0011283	Abnormal metencephalon morphology	87178	PNPT1	ORPHA:101111
HP:0011283	Abnormal metencephalon morphology	5428	POLG	ORPHA:70595
HP:0011283	Abnormal metencephalon morphology	56652	TWNK	ORPHA:70595
HP:0011283	Abnormal metencephalon morphology	526	ATP6V1B2	ORPHA:79500
HP:0011283	Abnormal metencephalon morphology	57465	TBC1D24	ORPHA:79500
HP:0011283	Abnormal metencephalon morphology	55770	EXOC2	OMIM:619306
HP:0011283	Abnormal metencephalon morphology	686	BTD	OMIM:253260
HP:0011283	Abnormal metencephalon morphology	819	CAMLG	OMIM:620201
HP:0011283	Abnormal metencephalon morphology	404672	GTF2H5	ORPHA:33364
HP:0011283	Abnormal metencephalon morphology	7737	RNF113A	ORPHA:33364
HP:0011283	Abnormal metencephalon morphology	136647	MPLKIP	ORPHA:33364
HP:0011283	Abnormal metencephalon morphology	6897	TARS1	ORPHA:33364
HP:0011283	Abnormal metencephalon morphology	2961	GTF2E2	ORPHA:33364
HP:0011283	Abnormal metencephalon morphology	3912	LAMB1	OMIM:615191
HP:0011283	Abnormal metencephalon morphology	1356	CP	ORPHA:48818
HP:0011283	Abnormal metencephalon morphology	2512	FTL	ORPHA:157846
HP:0011283	Abnormal metencephalon morphology	100144748	KLLN	OMIM:615107
HP:0011284	Short-segment aganglionic megacolon	2064	ERBB2	OMIM:619465
HP:0011284	Short-segment aganglionic megacolon	6663	SOX10	OMIM:609136
HP:0011285	Long-segment aganglionic megacolon	2668	GDNF	OMIM:613711
HP:0011285	Long-segment aganglionic megacolon	6663	SOX10	OMIM:609136
HP:0011286	Total colonic aganglionosis	2668	GDNF	OMIM:613711
HP:0011289	EEG with temporal sharp slow waves	2782	GNB1	OMIM:616973
HP:0011280	Abnormality of urine calcium concentration	9949	AMMECR1	OMIM:300990
HP:0011280	Abnormality of urine calcium concentration	7809	BSND	ORPHA:89938
HP:0011280	Abnormality of urine calcium concentration	1188	CLCNKB	ORPHA:89938
HP:0011280	Abnormality of urine calcium concentration	1187	CLCNKA	ORPHA:89938
HP:0011280	Abnormality of urine calcium concentration	4952	OCRL	OMIM:300555
HP:0011280	Abnormality of urine calcium concentration	4952	OCRL	ORPHA:534
HP:0011280	Abnormality of urine calcium concentration	1184	CLCN5	OMIM:300554
HP:0011280	Abnormality of urine calcium concentration	1184	CLCN5	OMIM:308990
HP:0011280	Abnormality of urine calcium concentration	1184	CLCN5	OMIM:300009
HP:0011280	Abnormality of urine calcium concentration	1184	CLCN5	OMIM:310468
HP:0011280	Abnormality of urine calcium concentration	51604	PIGT	OMIM:615398
HP:0011280	Abnormality of urine calcium concentration	51604	PIGT	ORPHA:369837
HP:0011280	Abnormality of urine calcium concentration	142680	SLC34A3	OMIM:241530
HP:0011280	Abnormality of urine calcium concentration	142680	SLC34A3	ORPHA:157215
HP:0011280	Abnormality of urine calcium concentration	6569	SLC34A1	OMIM:616963
HP:0011280	Abnormality of urine calcium concentration	6569	SLC34A1	OMIM:612286
HP:0011280	Abnormality of urine calcium concentration	6569	SLC34A1	OMIM:613388
HP:0011280	Abnormality of urine calcium concentration	6569	SLC34A1	ORPHA:3337
HP:0011280	Abnormality of urine calcium concentration	6569	SLC34A1	ORPHA:157215
HP:0011280	Abnormality of urine calcium concentration	3643	INSR	ORPHA:508
HP:0011280	Abnormality of urine calcium concentration	6804	STX1A	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	7461	CLIP2	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	84277	DNAJC30	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	8468	FKBP6	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	5982	RFC2	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	2969	GTF2I	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	3984	LIMK1	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	9569	GTF2IRD1	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	155382	VPS37D	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	155368	METTL27	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	114049	BUD23	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	7458	EIF4H	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	84163	GTF2IRD2	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	9275	BCL7B	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	26608	TBL2	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	653361	NCF1	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	135886	TMEM270	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	51085	MLXIPL	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	51085	MLXIPL	OMIM:194050
HP:0011280	Abnormality of urine calcium concentration	9031	BAZ1B	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	2006	ELN	ORPHA:904
HP:0011280	Abnormality of urine calcium concentration	2006	ELN	OMIM:194050
HP:0011280	Abnormality of urine calcium concentration	2767	GNA11	ORPHA:428
HP:0011280	Abnormality of urine calcium concentration	846	CASR	ORPHA:428
HP:0011280	Abnormality of urine calcium concentration	846	CASR	OMIM:601198
HP:0011280	Abnormality of urine calcium concentration	846	CASR	OMIM:145980
HP:0011280	Abnormality of urine calcium concentration	846	CASR	OMIM:239200
HP:0011280	Abnormality of urine calcium concentration	56606	SLC2A9	ORPHA:94088
HP:0011280	Abnormality of urine calcium concentration	116085	SLC22A12	ORPHA:94088
HP:0011280	Abnormality of urine calcium concentration	55811	ADCY10	OMIM:143870
HP:0011280	Abnormality of urine calcium concentration	55811	ADCY10	ORPHA:2197
HP:0011280	Abnormality of urine calcium concentration	79577	CDC73	ORPHA:143
HP:0011280	Abnormality of urine calcium concentration	79577	CDC73	ORPHA:99880
HP:0011280	Abnormality of urine calcium concentration	79577	CDC73	ORPHA:99879
HP:0011280	Abnormality of urine calcium concentration	6514	SLC2A2	OMIM:227810
HP:0011280	Abnormality of urine calcium concentration	6514	SLC2A2	ORPHA:2088
HP:0011280	Abnormality of urine calcium concentration	249	ALPL	OMIM:241500
HP:0011280	Abnormality of urine calcium concentration	10686	CLDN16	OMIM:248250
HP:0011280	Abnormality of urine calcium concentration	540	ATP7B	OMIM:277900
HP:0011280	Abnormality of urine calcium concentration	1962	EHHADH	ORPHA:3337
HP:0011280	Abnormality of urine calcium concentration	2628	GATM	ORPHA:3337
HP:0011280	Abnormality of urine calcium concentration	137682	NDUFAF6	ORPHA:3337
HP:0011280	Abnormality of urine calcium concentration	4221	MEN1	ORPHA:652
HP:0011280	Abnormality of urine calcium concentration	4221	MEN1	ORPHA:99879
HP:0011280	Abnormality of urine calcium concentration	1027	CDKN1B	ORPHA:652
HP:0011280	Abnormality of urine calcium concentration	1026	CDKN1A	ORPHA:652
HP:0011280	Abnormality of urine calcium concentration	1030	CDKN2B	ORPHA:652
HP:0011280	Abnormality of urine calcium concentration	1031	CDKN2C	ORPHA:652
HP:0011280	Abnormality of urine calcium concentration	10916	MAGED2	OMIM:300971
HP:0011280	Abnormality of urine calcium concentration	2212	FCGR2A	OMIM:219700
HP:0011280	Abnormality of urine calcium concentration	7040	TGFB1	OMIM:219700
HP:0011280	Abnormality of urine calcium concentration	1080	CFTR	OMIM:219700
HP:0011280	Abnormality of urine calcium concentration	3123	HLA-DRB1	OMIM:181000
HP:0011280	Abnormality of urine calcium concentration	3123	HLA-DRB1	ORPHA:797
HP:0011280	Abnormality of urine calcium concentration	5745	PTH1R	OMIM:156400
HP:0011280	Abnormality of urine calcium concentration	8074	FGF23	OMIM:617993
HP:0011280	Abnormality of urine calcium concentration	5286	PIK3C2A	OMIM:618440
HP:0011280	Abnormality of urine calcium concentration	3762	KCNJ5	OMIM:613677
HP:0011280	Abnormality of urine calcium concentration	3762	KCNJ5	ORPHA:251274
HP:0011280	Abnormality of urine calcium concentration	6928	HNF1B	ORPHA:1309
HP:0011280	Abnormality of urine calcium concentration	9247	GCM2	ORPHA:99879
HP:0011280	Abnormality of urine calcium concentration	9247	GCM2	ORPHA:2239
HP:0011280	Abnormality of urine calcium concentration	4982	TNFRSF11B	OMIM:239000
HP:0011280	Abnormality of urine calcium concentration	50617	ATP6V0A4	OMIM:602722
HP:0011280	Abnormality of urine calcium concentration	6557	SLC12A1	OMIM:601678
HP:0011280	Abnormality of urine calcium concentration	3758	KCNJ1	OMIM:241200
HP:0011280	Abnormality of urine calcium concentration	149461	CLDN19	OMIM:248190
HP:0011280	Abnormality of urine calcium concentration	1591	CYP24A1	OMIM:143880
HP:0011280	Abnormality of urine calcium concentration	1028	CDKN1C	OMIM:614732
HP:0011280	Abnormality of urine calcium concentration	56244	BTNL2	ORPHA:797
HP:0011280	Abnormality of urine calcium concentration	1175	AP2S1	OMIM:600740
HP:0011280	Abnormality of urine calcium concentration	486	FXYD2	OMIM:154020
HP:0011280	Abnormality of urine calcium concentration	9071	CLDN10	OMIM:617671
HP:0011280	Abnormality of urine calcium concentration	5251	PHEX	ORPHA:89936
HP:0011280	Abnormality of urine calcium concentration	3766	KCNJ10	OMIM:612780
HP:0011280	Abnormality of urine calcium concentration	6559	SLC12A3	OMIM:263800
HP:0011280	Abnormality of urine calcium concentration	54757	FAM20A	ORPHA:1031
HP:0008226	Androgen insufficiency	10046	MAMLD1	ORPHA:95706
HP:0008226	Androgen insufficiency	367	AR	ORPHA:95706
HP:0008226	Androgen insufficiency	3972	LHB	OMIM:228300
HP:0008226	Androgen insufficiency	140732	SUN5	ORPHA:529970
HP:0008226	Androgen insufficiency	83449	PMFBP1	ORPHA:529970
HP:0008225	Thyroid follicular hyperplasia	5573	PRKAR1A	OMIM:160980
HP:0008242	Pseudohypoaldosteronism	6337	SCNN1A	OMIM:264350
HP:0008242	Pseudohypoaldosteronism	65266	WNK4	OMIM:614491
HP:0008242	Pseudohypoaldosteronism	65125	WNK1	OMIM:614492
HP:0008242	Pseudohypoaldosteronism	26249	KLHL3	OMIM:614495
HP:0008242	Pseudohypoaldosteronism	8452	CUL3	OMIM:614496
HP:0008242	Pseudohypoaldosteronism	4306	NR3C2	OMIM:177735
HP:0008227	Pituitary resistance to thyroid hormone	2778	GNAS	ORPHA:94089
HP:0008227	Pituitary resistance to thyroid hormone	2778	GNAS	ORPHA:79443
HP:0008227	Pituitary resistance to thyroid hormone	2778	GNAS	ORPHA:79444
HP:0008227	Pituitary resistance to thyroid hormone	8675	STX16	ORPHA:94089
HP:0008229	Thyroid lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0000819	Diabetes mellitus	291	SLC25A4	ORPHA:254892
HP:0000819	Diabetes mellitus	5428	POLG	ORPHA:254892
HP:0000819	Diabetes mellitus	56652	TWNK	ORPHA:254892
HP:0000819	Diabetes mellitus	56652	TWNK	OMIM:609286
HP:0000819	Diabetes mellitus	11232	POLG2	ORPHA:254892
HP:0000819	Diabetes mellitus	50484	RRM2B	ORPHA:254892
HP:0000819	Diabetes mellitus	1497	CTNS	OMIM:219800
HP:0000819	Diabetes mellitus	4558	MT-TF	ORPHA:550
HP:0000819	Diabetes mellitus	4558	MT-TF	OMIM:540000
HP:0000819	Diabetes mellitus	4572	MT-TQ	ORPHA:550
HP:0000819	Diabetes mellitus	4572	MT-TQ	OMIM:540000
HP:0000819	Diabetes mellitus	4512	MT-CO1	ORPHA:550
HP:0000819	Diabetes mellitus	4512	MT-CO1	OMIM:540000
HP:0000819	Diabetes mellitus	4513	MT-CO2	ORPHA:550
HP:0000819	Diabetes mellitus	4513	MT-CO2	OMIM:540000
HP:0000819	Diabetes mellitus	4514	MT-CO3	ORPHA:550
HP:0000819	Diabetes mellitus	4514	MT-CO3	OMIM:540000
HP:0000819	Diabetes mellitus	4578	MT-TW	ORPHA:550
HP:0000819	Diabetes mellitus	4578	MT-TW	OMIM:540000
HP:0000819	Diabetes mellitus	4540	MT-ND5	ORPHA:550
HP:0000819	Diabetes mellitus	4540	MT-ND5	OMIM:540000
HP:0000819	Diabetes mellitus	4541	MT-ND6	ORPHA:550
HP:0000819	Diabetes mellitus	4541	MT-ND6	OMIM:540000
HP:0000819	Diabetes mellitus	4535	MT-ND1	ORPHA:550
HP:0000819	Diabetes mellitus	4535	MT-ND1	ORPHA:2609
HP:0000819	Diabetes mellitus	4535	MT-ND1	OMIM:540000
HP:0000819	Diabetes mellitus	4538	MT-ND4	ORPHA:550
HP:0000819	Diabetes mellitus	4567	MT-TL1	ORPHA:550
HP:0000819	Diabetes mellitus	4567	MT-TL1	OMIM:540000
HP:0000819	Diabetes mellitus	4574	MT-TS1	ORPHA:550
HP:0000819	Diabetes mellitus	4574	MT-TS1	OMIM:540000
HP:0000819	Diabetes mellitus	4575	MT-TS2	ORPHA:550
HP:0000819	Diabetes mellitus	4575	MT-TS2	OMIM:540000
HP:0000819	Diabetes mellitus	4564	MT-TH	ORPHA:550
HP:0000819	Diabetes mellitus	54539	NDUFB11	ORPHA:2609
HP:0000819	Diabetes mellitus	25915	NDUFAF3	ORPHA:2609
HP:0000819	Diabetes mellitus	51103	NDUFAF1	ORPHA:2609
HP:0000819	Diabetes mellitus	91942	NDUFAF2	ORPHA:2609
HP:0000819	Diabetes mellitus	51300	TIMMDC1	ORPHA:2609
HP:0000819	Diabetes mellitus	4716	NDUFB10	ORPHA:2609
HP:0000819	Diabetes mellitus	4723	NDUFV1	ORPHA:2609
HP:0000819	Diabetes mellitus	55572	FOXRED1	ORPHA:2609
HP:0000819	Diabetes mellitus	284184	NDUFAF8	ORPHA:2609
HP:0000819	Diabetes mellitus	55863	TMEM126B	ORPHA:2609
HP:0000819	Diabetes mellitus	4537	MT-ND3	ORPHA:2609
HP:0000819	Diabetes mellitus	4729	NDUFV2	ORPHA:2609
HP:0000819	Diabetes mellitus	4694	NDUFA1	ORPHA:2609
HP:0000819	Diabetes mellitus	4720	NDUFS2	ORPHA:2609
HP:0000819	Diabetes mellitus	4724	NDUFS4	ORPHA:2609
HP:0000819	Diabetes mellitus	4726	NDUFS6	ORPHA:2609
HP:0000819	Diabetes mellitus	4728	NDUFS8	ORPHA:2609
HP:0000819	Diabetes mellitus	4722	NDUFS3	ORPHA:2609
HP:0000819	Diabetes mellitus	79133	NDUFAF5	ORPHA:2609
HP:0000819	Diabetes mellitus	126328	NDUFA11	ORPHA:2609
HP:0000819	Diabetes mellitus	4709	NDUFB3	ORPHA:2609
HP:0000819	Diabetes mellitus	80224	NUBPL	ORPHA:2609
HP:0000819	Diabetes mellitus	29078	NDUFAF4	ORPHA:2609
HP:0000819	Diabetes mellitus	374291	NDUFS7	ORPHA:2609
HP:0000819	Diabetes mellitus	4700	NDUFA6	ORPHA:2609
HP:0000819	Diabetes mellitus	4536	MT-ND2	ORPHA:2609
HP:0000819	Diabetes mellitus	4719	NDUFS1	ORPHA:2609
HP:0000819	Diabetes mellitus	4715	NDUFB9	ORPHA:2609
HP:0000819	Diabetes mellitus	81555	YIPF5	OMIM:619278
HP:0000819	Diabetes mellitus	286053	NSMCE2	OMIM:617253
HP:0000819	Diabetes mellitus	1356	CP	OMIM:604290
HP:0000819	Diabetes mellitus	1356	CP	ORPHA:48818
HP:0000819	Diabetes mellitus	55627	SMPD4	OMIM:618622
HP:0000819	Diabetes mellitus	3767	KCNJ11	OMIM:616329
HP:0000819	Diabetes mellitus	4508	MT-ATP6	ORPHA:320360
HP:0000819	Diabetes mellitus	857	CAV1	OMIM:612526
HP:0000819	Diabetes mellitus	857	CAV1	ORPHA:528
HP:0000819	Diabetes mellitus	3119	HLA-DQB1	ORPHA:703
HP:0000819	Diabetes mellitus	3123	HLA-DRB1	ORPHA:703
HP:0000819	Diabetes mellitus	7068	THRB	OMIM:274300
HP:0000819	Diabetes mellitus	256297	PTF1A	OMIM:609069
HP:0000819	Diabetes mellitus	256297	PTF1A	OMIM:615935
HP:0000819	Diabetes mellitus	60675	PROK2	OMIM:610628
HP:0000819	Diabetes mellitus	2627	GATA6	OMIM:600001
HP:0000819	Diabetes mellitus	197131	UBR1	OMIM:243800
HP:0000819	Diabetes mellitus	197131	UBR1	ORPHA:2315
HP:0000819	Diabetes mellitus	57104	PNPLA2	ORPHA:565612
HP:0000819	Diabetes mellitus	57104	PNPLA2	OMIM:610717
HP:0000819	Diabetes mellitus	57104	PNPLA2	ORPHA:98908
HP:0000819	Diabetes mellitus	63916	ELMO2	ORPHA:3019
HP:0000819	Diabetes mellitus	169792	GLIS3	OMIM:610199
HP:0000819	Diabetes mellitus	472	ATM	OMIM:208900
HP:0000819	Diabetes mellitus	472	ATM	ORPHA:100
HP:0000819	Diabetes mellitus	10560	SLC19A2	ORPHA:49827
HP:0000819	Diabetes mellitus	10560	SLC19A2	OMIM:249270
HP:0000819	Diabetes mellitus	7486	WRN	OMIM:277700
HP:0000819	Diabetes mellitus	30061	SLC40A1	OMIM:606069
HP:0000819	Diabetes mellitus	348	APOE	ORPHA:412
HP:0000819	Diabetes mellitus	134218	DNAJC21	ORPHA:811
HP:0000819	Diabetes mellitus	79631	EFL1	ORPHA:811
HP:0000819	Diabetes mellitus	51119	SBDS	ORPHA:811
HP:0000819	Diabetes mellitus	6729	SRP54	ORPHA:811
HP:0000819	Diabetes mellitus	10059	DNM1L	ORPHA:98673
HP:0000819	Diabetes mellitus	4976	OPA1	ORPHA:98673
HP:0000819	Diabetes mellitus	4976	OPA1	ORPHA:1215
HP:0000819	Diabetes mellitus	4519	MT-CYB	OMIM:540000
HP:0000819	Diabetes mellitus	4511	MT-TC	OMIM:540000
HP:0000819	Diabetes mellitus	4566	MT-TK	OMIM:540000
HP:0000819	Diabetes mellitus	4577	MT-TV	OMIM:540000
HP:0000819	Diabetes mellitus	6638	SNRPN	ORPHA:177904
HP:0000819	Diabetes mellitus	6638	SNRPN	ORPHA:177901
HP:0000819	Diabetes mellitus	6638	SNRPN	ORPHA:98754
HP:0000819	Diabetes mellitus	4692	NDN	ORPHA:177904
HP:0000819	Diabetes mellitus	4692	NDN	ORPHA:177901
HP:0000819	Diabetes mellitus	4692	NDN	ORPHA:98754
HP:0000819	Diabetes mellitus	54551	MAGEL2	ORPHA:177904
HP:0000819	Diabetes mellitus	54551	MAGEL2	ORPHA:177901
HP:0000819	Diabetes mellitus	54551	MAGEL2	ORPHA:98754
HP:0000819	Diabetes mellitus	4948	OCA2	ORPHA:177904
HP:0000819	Diabetes mellitus	4948	OCA2	ORPHA:177901
HP:0000819	Diabetes mellitus	4948	OCA2	ORPHA:98754
HP:0000819	Diabetes mellitus	84196	USP48	ORPHA:96253
HP:0000819	Diabetes mellitus	7157	TP53	ORPHA:96253
HP:0000819	Diabetes mellitus	7157	TP53	ORPHA:1501
HP:0000819	Diabetes mellitus	7157	TP53	ORPHA:1333
HP:0000819	Diabetes mellitus	9101	USP8	ORPHA:96253
HP:0000819	Diabetes mellitus	64072	CDH23	ORPHA:96253
HP:0000819	Diabetes mellitus	2908	NR3C1	ORPHA:96253
HP:0000819	Diabetes mellitus	673	BRAF	ORPHA:96253
HP:0000819	Diabetes mellitus	546	ATRX	ORPHA:96253
HP:0000819	Diabetes mellitus	6772	STAT1	OMIM:614162
HP:0000819	Diabetes mellitus	2332	FMR1	ORPHA:449291
HP:0000819	Diabetes mellitus	6928	HNF1B	OMIM:137920
HP:0000819	Diabetes mellitus	6928	HNF1B	ORPHA:261265
HP:0000819	Diabetes mellitus	6928	HNF1B	ORPHA:93111
HP:0000819	Diabetes mellitus	5468	PPARG	ORPHA:79083
HP:0000819	Diabetes mellitus	5468	PPARG	ORPHA:528
HP:0000819	Diabetes mellitus	4000	LMNA	ORPHA:79084
HP:0000819	Diabetes mellitus	4000	LMNA	ORPHA:79474
HP:0000819	Diabetes mellitus	4000	LMNA	ORPHA:280365
HP:0000819	Diabetes mellitus	4000	LMNA	ORPHA:2348
HP:0000819	Diabetes mellitus	3376	IARS1	ORPHA:541423
HP:0000819	Diabetes mellitus	3953	LEPR	OMIM:614963
HP:0000819	Diabetes mellitus	84100	ARL6	OMIM:209900
HP:0000819	Diabetes mellitus	79140	CCDC28B	OMIM:209900
HP:0000819	Diabetes mellitus	582	BBS1	OMIM:209900
HP:0000819	Diabetes mellitus	83550	GPR101	ORPHA:963
HP:0000819	Diabetes mellitus	9049	AIP	ORPHA:963
HP:0000819	Diabetes mellitus	2645	GCK	OMIM:606176
HP:0000819	Diabetes mellitus	2645	GCK	OMIM:602485
HP:0000819	Diabetes mellitus	84133	ZNRF3	ORPHA:1501
HP:0000819	Diabetes mellitus	5573	PRKAR1A	ORPHA:1501
HP:0000819	Diabetes mellitus	5573	PRKAR1A	ORPHA:189439
HP:0000819	Diabetes mellitus	5573	PRKAR1A	ORPHA:280651
HP:0000819	Diabetes mellitus	1499	CTNNB1	ORPHA:1501
HP:0000819	Diabetes mellitus	1029	CDKN2A	ORPHA:1501
HP:0000819	Diabetes mellitus	1029	CDKN2A	ORPHA:1333
HP:0000819	Diabetes mellitus	7015	TERT	ORPHA:1501
HP:0000819	Diabetes mellitus	7015	TERT	ORPHA:1775
HP:0000819	Diabetes mellitus	10555	AGPAT2	OMIM:608594
HP:0000819	Diabetes mellitus	10555	AGPAT2	ORPHA:528
HP:0000819	Diabetes mellitus	7274	TTPA	ORPHA:96
HP:0000819	Diabetes mellitus	7466	WFS1	OMIM:222300
HP:0000819	Diabetes mellitus	7466	WFS1	OMIM:614296
HP:0000819	Diabetes mellitus	7466	WFS1	ORPHA:3463
HP:0000819	Diabetes mellitus	7466	WFS1	ORPHA:411590
HP:0000819	Diabetes mellitus	8091	HMGA2	ORPHA:94063
HP:0000819	Diabetes mellitus	23592	LEMD3	ORPHA:94063
HP:0000819	Diabetes mellitus	51651	PTRH2	ORPHA:456312
HP:0000819	Diabetes mellitus	51651	PTRH2	OMIM:616263
HP:0000819	Diabetes mellitus	2992	GYG1	ORPHA:263297
HP:0000819	Diabetes mellitus	5424	POLD1	OMIM:615381
HP:0000819	Diabetes mellitus	26060	APPL1	OMIM:616511
HP:0000819	Diabetes mellitus	672	BRCA1	ORPHA:1333
HP:0000819	Diabetes mellitus	285282	RABL3	ORPHA:1333
HP:0000819	Diabetes mellitus	675	BRCA2	ORPHA:1333
HP:0000819	Diabetes mellitus	3845	KRAS	ORPHA:1333
HP:0000819	Diabetes mellitus	79728	PALB2	ORPHA:1333
HP:0000819	Diabetes mellitus	4089	SMAD4	ORPHA:1333
HP:0000819	Diabetes mellitus	23022	PALLD	ORPHA:1333
HP:0000819	Diabetes mellitus	5144	PDE4D	OMIM:614613
HP:0000819	Diabetes mellitus	5144	PDE4D	ORPHA:280651
HP:0000819	Diabetes mellitus	57817	HAMP	ORPHA:79230
HP:0000819	Diabetes mellitus	148738	HJV	ORPHA:79230
HP:0000819	Diabetes mellitus	8195	MKKS	OMIM:605231
HP:0000819	Diabetes mellitus	2697	GJA1	ORPHA:317
HP:0000819	Diabetes mellitus	2707	GJB3	ORPHA:317
HP:0000819	Diabetes mellitus	2531	KDSR	ORPHA:317
HP:0000819	Diabetes mellitus	127534	GJB4	ORPHA:317
HP:0000819	Diabetes mellitus	2395	FXN	ORPHA:95
HP:0000819	Diabetes mellitus	2395	FXN	OMIM:229300
HP:0000819	Diabetes mellitus	165	AEBP1	ORPHA:536532
HP:0000819	Diabetes mellitus	11330	CTRC	ORPHA:676
HP:0000819	Diabetes mellitus	11330	CTRC	OMIM:167800
HP:0000819	Diabetes mellitus	5644	PRSS1	ORPHA:676
HP:0000819	Diabetes mellitus	5644	PRSS1	OMIM:167800
HP:0000819	Diabetes mellitus	5645	PRSS2	ORPHA:676
HP:0000819	Diabetes mellitus	5645	PRSS2	OMIM:167800
HP:0000819	Diabetes mellitus	6690	SPINK1	ORPHA:676
HP:0000819	Diabetes mellitus	6690	SPINK1	OMIM:167800
HP:0000819	Diabetes mellitus	846	CASR	ORPHA:676
HP:0000819	Diabetes mellitus	1080	CFTR	ORPHA:676
HP:0000819	Diabetes mellitus	1080	CFTR	OMIM:167800
HP:0000819	Diabetes mellitus	1357	CPA1	ORPHA:676
HP:0000819	Diabetes mellitus	3077	HFE	OMIM:235200
HP:0000819	Diabetes mellitus	3077	HFE	ORPHA:465508
HP:0000819	Diabetes mellitus	650	BMP2	OMIM:235200
HP:0000819	Diabetes mellitus	3559	IL2RA	OMIM:601942
HP:0000819	Diabetes mellitus	3630	INS	OMIM:613370
HP:0000819	Diabetes mellitus	3975	LHX1	ORPHA:261265
HP:0000819	Diabetes mellitus	3043	HBB	ORPHA:231214
HP:0000819	Diabetes mellitus	3043	HBB	ORPHA:231222
HP:0000819	Diabetes mellitus	3043	HBB	ORPHA:231226
HP:0000819	Diabetes mellitus	5566	PRKACA	OMIM:615830
HP:0000819	Diabetes mellitus	5566	PRKACA	ORPHA:189439
HP:0000819	Diabetes mellitus	222546	RFX6	OMIM:615710
HP:0000819	Diabetes mellitus	8622	PDE8B	ORPHA:189439
HP:0000819	Diabetes mellitus	50940	PDE11A	ORPHA:189439
HP:0000819	Diabetes mellitus	5189	PEX1	ORPHA:3220
HP:0000819	Diabetes mellitus	5190	PEX6	ORPHA:3220
HP:0000819	Diabetes mellitus	493856	CISD2	ORPHA:3463
HP:0000819	Diabetes mellitus	493856	CISD2	OMIM:604928
HP:0000819	Diabetes mellitus	79759	ZNF668	OMIM:620194
HP:0000819	Diabetes mellitus	26137	ZBTB20	OMIM:259050
HP:0000819	Diabetes mellitus	5244	ABCB4	ORPHA:69663
HP:0000819	Diabetes mellitus	2642	GCGR	ORPHA:438274
HP:0000819	Diabetes mellitus	27086	FOXP1	ORPHA:391372
HP:0000819	Diabetes mellitus	51124	IER3IP1	OMIM:614231
HP:0000819	Diabetes mellitus	6514	SLC2A2	ORPHA:2088
HP:0000819	Diabetes mellitus	93587	TRMT10A	ORPHA:391408
HP:0000819	Diabetes mellitus	93587	TRMT10A	OMIM:616033
HP:0000819	Diabetes mellitus	84919	PPP1R15B	ORPHA:391408
HP:0000819	Diabetes mellitus	51085	MLXIPL	OMIM:194050
HP:0000819	Diabetes mellitus	2006	ELN	OMIM:194050
HP:0000819	Diabetes mellitus	4205	MEF2A	OMIM:608320
HP:0000819	Diabetes mellitus	4854	NOTCH3	ORPHA:136
HP:0000819	Diabetes mellitus	5295	PIK3R1	ORPHA:3163
HP:0000819	Diabetes mellitus	7518	XRCC4	OMIM:616541
HP:0000819	Diabetes mellitus	2625	GATA3	ORPHA:2237
HP:0000819	Diabetes mellitus	3172	HNF4A	OMIM:616026
HP:0000819	Diabetes mellitus	5879	RAC1	ORPHA:500159
HP:0000819	Diabetes mellitus	654	BMP6	ORPHA:465508
HP:0000819	Diabetes mellitus	5078	PAX4	OMIM:612227
HP:0000819	Diabetes mellitus	1968	EIF2S3	ORPHA:85282
HP:0000819	Diabetes mellitus	2303	FOXC2	ORPHA:33001
HP:0000819	Diabetes mellitus	4693	NDP	ORPHA:649
HP:0000819	Diabetes mellitus	284119	CAVIN1	ORPHA:528
HP:0000819	Diabetes mellitus	26580	BSCL2	ORPHA:528
HP:0000819	Diabetes mellitus	2353	FOS	ORPHA:528
HP:0000819	Diabetes mellitus	3514	IGKC	ORPHA:183675
HP:0000819	Diabetes mellitus	3501	IGHG2	ORPHA:183675
HP:0000819	Diabetes mellitus	641	BLM	ORPHA:125
HP:0000819	Diabetes mellitus	5611	DNAJC3	ORPHA:445062
HP:0000819	Diabetes mellitus	80067	DCAF17	OMIM:241080
HP:0000819	Diabetes mellitus	26191	PTPN22	OMIM:222100
HP:0000819	Diabetes mellitus	3710	ITPR3	OMIM:222100
HP:0000819	Diabetes mellitus	3569	IL6	OMIM:222100
HP:0000819	Diabetes mellitus	6927	HNF1A	OMIM:222100
HP:0000819	Diabetes mellitus	3991	LIPE	OMIM:615980
HP:0000819	Diabetes mellitus	23503	ZFYVE26	ORPHA:100996
HP:0000819	Diabetes mellitus	583	BBS2	OMIM:615981
HP:0000819	Diabetes mellitus	84823	LMNB2	OMIM:608709
HP:0000819	Diabetes mellitus	80169	CTC1	ORPHA:1775
HP:0000819	Diabetes mellitus	26277	TINF2	ORPHA:1775
HP:0000819	Diabetes mellitus	55651	NHP2	ORPHA:1775
HP:0000819	Diabetes mellitus	79650	USB1	ORPHA:1775
HP:0000819	Diabetes mellitus	55135	WRAP53	ORPHA:1775
HP:0000819	Diabetes mellitus	51750	RTEL1	ORPHA:1775
HP:0000819	Diabetes mellitus	4869	NPM1	ORPHA:1775
HP:0000819	Diabetes mellitus	7012	TERC	ORPHA:1775
HP:0000819	Diabetes mellitus	55505	NOP10	ORPHA:1775
HP:0000819	Diabetes mellitus	5073	PARN	ORPHA:1775
HP:0000819	Diabetes mellitus	1736	DKC1	ORPHA:1775
HP:0000819	Diabetes mellitus	7298	TYMS	ORPHA:1775
HP:0000819	Diabetes mellitus	116519	APOA5	OMIM:144650
HP:0000819	Diabetes mellitus	55315	SLC29A3	ORPHA:168569
HP:0000819	Diabetes mellitus	54938	SARS2	OMIM:613845
HP:0000819	Diabetes mellitus	25886	POC1A	OMIM:614813
HP:0000819	Diabetes mellitus	3480	IGF1R	OMIM:270450
HP:0000819	Diabetes mellitus	10535	RNASEH2A	ORPHA:51
HP:0000819	Diabetes mellitus	84153	RNASEH2C	ORPHA:51
HP:0000819	Diabetes mellitus	25939	SAMHD1	ORPHA:51
HP:0000819	Diabetes mellitus	79621	RNASEH2B	ORPHA:51
HP:0000819	Diabetes mellitus	103	ADAR	ORPHA:51
HP:0000819	Diabetes mellitus	11277	TREX1	ORPHA:51
HP:0000819	Diabetes mellitus	100147744	RNU7-1	ORPHA:51
HP:0000819	Diabetes mellitus	134353	LSM11	ORPHA:51
HP:0000819	Diabetes mellitus	64135	IFIH1	ORPHA:51
HP:0000819	Diabetes mellitus	10269	ZMPSTE24	OMIM:608612
HP:0000819	Diabetes mellitus	10367	MICU1	ORPHA:401768
HP:0000819	Diabetes mellitus	63924	CIDEC	ORPHA:435651
HP:0000819	Diabetes mellitus	3952	LEP	ORPHA:66628
HP:0000819	Diabetes mellitus	23019	CNOT1	ORPHA:556955
HP:0000819	Diabetes mellitus	6774	STAT3	ORPHA:99885
HP:0000819	Diabetes mellitus	9451	EIF2AK3	ORPHA:1667
HP:0000819	Diabetes mellitus	5346	PLIN1	ORPHA:280356
HP:0000819	Diabetes mellitus	388015	RTL1	ORPHA:96184
HP:0000819	Diabetes mellitus	388015	RTL1	ORPHA:254531
HP:0000819	Diabetes mellitus	8788	DLK1	ORPHA:96184
HP:0000819	Diabetes mellitus	8788	DLK1	ORPHA:254531
HP:0000819	Diabetes mellitus	55384	MEG3	ORPHA:96184
HP:0000819	Diabetes mellitus	55384	MEG3	ORPHA:254531
HP:0000819	Diabetes mellitus	5092	PCBD1	ORPHA:1578
HP:0000819	Diabetes mellitus	7840	ALMS1	ORPHA:64
HP:0000819	Diabetes mellitus	92840	REEP6	ORPHA:791
HP:0000819	Diabetes mellitus	6094	ROM1	ORPHA:791
HP:0000819	Diabetes mellitus	6017	RLBP1	ORPHA:791
HP:0000819	Diabetes mellitus	7401	CLRN1	ORPHA:791
HP:0000819	Diabetes mellitus	24	ABCA4	ORPHA:791
HP:0000819	Diabetes mellitus	130557	ZNF513	ORPHA:791
HP:0000819	Diabetes mellitus	92211	CDHR1	ORPHA:791
HP:0000819	Diabetes mellitus	23568	ARL2BP	ORPHA:791
HP:0000819	Diabetes mellitus	6121	RPE65	ORPHA:791
HP:0000819	Diabetes mellitus	54806	AHI1	ORPHA:791
HP:0000819	Diabetes mellitus	6101	RP1	ORPHA:791
HP:0000819	Diabetes mellitus	3419	IDH3A	ORPHA:791
HP:0000819	Diabetes mellitus	4751	NEK2	ORPHA:791
HP:0000819	Diabetes mellitus	346007	EYS	ORPHA:791
HP:0000819	Diabetes mellitus	8100	IFT88	ORPHA:791
HP:0000819	Diabetes mellitus	23020	SNRNP200	ORPHA:791
HP:0000819	Diabetes mellitus	762	CA4	ORPHA:791
HP:0000819	Diabetes mellitus	138050	HGSNAT	ORPHA:791
HP:0000819	Diabetes mellitus	196	AHR	ORPHA:791
HP:0000819	Diabetes mellitus	3614	IMPDH1	ORPHA:791
HP:0000819	Diabetes mellitus	123016	TTC8	ORPHA:791
HP:0000819	Diabetes mellitus	6103	RPGR	ORPHA:791
HP:0000819	Diabetes mellitus	1406	CRX	ORPHA:791
HP:0000819	Diabetes mellitus	5148	PDE6G	ORPHA:791
HP:0000819	Diabetes mellitus	26160	IFT172	ORPHA:791
HP:0000819	Diabetes mellitus	26121	PRPF31	ORPHA:791
HP:0000819	Diabetes mellitus	4117	MAK	ORPHA:791
HP:0000819	Diabetes mellitus	25794	FSCN2	ORPHA:791
HP:0000819	Diabetes mellitus	375298	CERKL	ORPHA:791
HP:0000819	Diabetes mellitus	3420	IDH3B	ORPHA:791
HP:0000819	Diabetes mellitus	57670	KIAA1549	ORPHA:791
HP:0000819	Diabetes mellitus	7275	TUB	ORPHA:791
HP:0000819	Diabetes mellitus	24148	PRPF6	ORPHA:791
HP:0000819	Diabetes mellitus	23418	CRB1	ORPHA:791
HP:0000819	Diabetes mellitus	10461	MERTK	ORPHA:791
HP:0000819	Diabetes mellitus	57709	SLC7A14	ORPHA:791
HP:0000819	Diabetes mellitus	768206	PRCD	ORPHA:791
HP:0000819	Diabetes mellitus	7399	USH2A	ORPHA:791
HP:0000819	Diabetes mellitus	23370	ARHGEF18	ORPHA:791
HP:0000819	Diabetes mellitus	5949	RBP3	ORPHA:791
HP:0000819	Diabetes mellitus	6010	RHO	ORPHA:791
HP:0000819	Diabetes mellitus	6100	RP9	ORPHA:791
HP:0000819	Diabetes mellitus	10002	NR2E3	ORPHA:791
HP:0000819	Diabetes mellitus	9227	LRAT	ORPHA:791
HP:0000819	Diabetes mellitus	84140	FAM161A	ORPHA:791
HP:0000819	Diabetes mellitus	55812	SPATA7	ORPHA:791
HP:0000819	Diabetes mellitus	55624	POMGNT1	ORPHA:791
HP:0000819	Diabetes mellitus	79797	ZNF408	ORPHA:791
HP:0000819	Diabetes mellitus	403	ARL3	ORPHA:791
HP:0000819	Diabetes mellitus	5145	PDE6A	ORPHA:791
HP:0000819	Diabetes mellitus	10210	TOPORS	ORPHA:791
HP:0000819	Diabetes mellitus	8842	PROM1	ORPHA:791
HP:0000819	Diabetes mellitus	9128	PRPF4	ORPHA:791
HP:0000819	Diabetes mellitus	145226	RDH12	ORPHA:791
HP:0000819	Diabetes mellitus	50939	IMPG2	ORPHA:791
HP:0000819	Diabetes mellitus	8481	OFD1	ORPHA:791
HP:0000819	Diabetes mellitus	49855	SCAPER	ORPHA:791
HP:0000819	Diabetes mellitus	9742	IFT140	ORPHA:791
HP:0000819	Diabetes mellitus	2979	GUCA1B	ORPHA:791
HP:0000819	Diabetes mellitus	1259	CNGA1	ORPHA:791
HP:0000819	Diabetes mellitus	1258	CNGB1	ORPHA:791
HP:0000819	Diabetes mellitus	60509	AGBL5	ORPHA:791
HP:0000819	Diabetes mellitus	5961	PRPH2	ORPHA:791
HP:0000819	Diabetes mellitus	388939	PCARE	ORPHA:791
HP:0000819	Diabetes mellitus	7439	BEST1	ORPHA:791
HP:0000819	Diabetes mellitus	9785	DHX38	ORPHA:791
HP:0000819	Diabetes mellitus	7287	TULP1	ORPHA:791
HP:0000819	Diabetes mellitus	5995	RGR	ORPHA:791
HP:0000819	Diabetes mellitus	9129	PRPF3	ORPHA:791
HP:0000819	Diabetes mellitus	55975	KLHL7	ORPHA:791
HP:0000819	Diabetes mellitus	3617	IMPG1	ORPHA:791
HP:0000819	Diabetes mellitus	94137	RP1L1	ORPHA:791
HP:0000819	Diabetes mellitus	5158	PDE6B	ORPHA:791
HP:0000819	Diabetes mellitus	6102	RP2	ORPHA:791
HP:0000819	Diabetes mellitus	55857	KIZ	ORPHA:791
HP:0000819	Diabetes mellitus	64218	SEMA4A	ORPHA:791
HP:0000819	Diabetes mellitus	4901	NRL	ORPHA:791
HP:0000819	Diabetes mellitus	157657	CFAP418	ORPHA:791
HP:0000819	Diabetes mellitus	10594	PRPF8	ORPHA:791
HP:0000819	Diabetes mellitus	6295	SAG	ORPHA:791
HP:0000819	Diabetes mellitus	79947	DHDDS	ORPHA:791
HP:0000819	Diabetes mellitus	63036	CELA2A	OMIM:618620
HP:0000819	Diabetes mellitus	4160	MC4R	ORPHA:71529
HP:0000819	Diabetes mellitus	389692	MAFA	OMIM:147630
HP:0000819	Diabetes mellitus	10908	PNPLA6	ORPHA:2377
HP:0000819	Diabetes mellitus	6804	STX1A	ORPHA:904
HP:0000819	Diabetes mellitus	7461	CLIP2	ORPHA:904
HP:0000819	Diabetes mellitus	84277	DNAJC30	ORPHA:904
HP:0000819	Diabetes mellitus	8468	FKBP6	ORPHA:904
HP:0000819	Diabetes mellitus	5982	RFC2	ORPHA:904
HP:0000819	Diabetes mellitus	2969	GTF2I	ORPHA:904
HP:0000819	Diabetes mellitus	3984	LIMK1	ORPHA:904
HP:0000819	Diabetes mellitus	9569	GTF2IRD1	ORPHA:904
HP:0000819	Diabetes mellitus	155382	VPS37D	ORPHA:904
HP:0000819	Diabetes mellitus	155368	METTL27	ORPHA:904
HP:0000819	Diabetes mellitus	114049	BUD23	ORPHA:904
HP:0000819	Diabetes mellitus	7458	EIF4H	ORPHA:904
HP:0000819	Diabetes mellitus	84163	GTF2IRD2	ORPHA:904
HP:0000819	Diabetes mellitus	9275	BCL7B	ORPHA:904
HP:0000819	Diabetes mellitus	26608	TBL2	ORPHA:904
HP:0000819	Diabetes mellitus	653361	NCF1	ORPHA:904
HP:0000819	Diabetes mellitus	135886	TMEM270	ORPHA:904
HP:0000819	Diabetes mellitus	9031	BAZ1B	ORPHA:904
HP:0000819	Diabetes mellitus	3643	INSR	ORPHA:2297
HP:0000819	Diabetes mellitus	3981	LIG4	ORPHA:99812
HP:0000819	Diabetes mellitus	3981	LIG4	OMIM:606593
HP:0000819	Diabetes mellitus	7681	MKRN3	OMIM:176270
HP:0000819	Diabetes mellitus	3653	IPW	OMIM:176270
HP:0000819	Diabetes mellitus	791114	PWRN1	OMIM:176270
HP:0000819	Diabetes mellitus	100033413	SNORD116-1	OMIM:176270
HP:0000819	Diabetes mellitus	8924	HERC2	OMIM:176270
HP:0000819	Diabetes mellitus	145624	PWAR1	OMIM:176270
HP:0000819	Diabetes mellitus	23742	NPAP1	OMIM:176270
HP:0000819	Diabetes mellitus	338433	SNORD115-1	OMIM:176270
HP:0000819	Diabetes mellitus	4040	LRP6	OMIM:610947
HP:0000819	Diabetes mellitus	7555	CNBP	OMIM:602668
HP:0000819	Diabetes mellitus	6934	TCF7L2	OMIM:125853
HP:0000819	Diabetes mellitus	3990	LIPC	OMIM:125853
HP:0000819	Diabetes mellitus	9479	MAPK8IP1	OMIM:125853
HP:0000819	Diabetes mellitus	56729	RETN	OMIM:125853
HP:0000819	Diabetes mellitus	4544	MTNR1B	OMIM:125853
HP:0000819	Diabetes mellitus	5506	PPP1R3A	OMIM:125853
HP:0000819	Diabetes mellitus	208	AKT2	OMIM:125853
HP:0000819	Diabetes mellitus	10644	IGF2BP2	OMIM:125853
HP:0000819	Diabetes mellitus	5167	ENPP1	OMIM:125853
HP:0000819	Diabetes mellitus	5770	PTPN1	OMIM:125853
HP:0000819	Diabetes mellitus	8660	IRS2	OMIM:125853
HP:0000819	Diabetes mellitus	3159	HMGA1	OMIM:125853
HP:0000819	Diabetes mellitus	3667	IRS1	OMIM:125853
HP:0000819	Diabetes mellitus	169026	SLC30A8	OMIM:125853
HP:0000819	Diabetes mellitus	2820	GPD2	OMIM:125853
HP:0000819	Diabetes mellitus	6492	SIM1	ORPHA:398079
HP:0000819	Diabetes mellitus	1363	CPE	OMIM:619326
HP:0000819	Diabetes mellitus	23600	AMACR	ORPHA:79095
HP:0000819	Diabetes mellitus	5422	POLA1	ORPHA:163976
HP:0000819	Diabetes mellitus	4221	MEN1	ORPHA:99725
HP:0000819	Diabetes mellitus	1786	DNMT1	OMIM:604121
HP:0000819	Diabetes mellitus	11128	POLR3A	ORPHA:3455
HP:0000819	Diabetes mellitus	51218	GLRX5	OMIM:616860
HP:0000819	Diabetes mellitus	2200	FBN1	ORPHA:2833
HP:0000819	Diabetes mellitus	9149	DYRK1B	OMIM:615812
HP:0000819	Diabetes mellitus	367	AR	ORPHA:481
HP:0000819	Diabetes mellitus	4340	MOG	OMIM:614250
HP:0000819	Diabetes mellitus	833	CARS1	OMIM:618891
HP:0000819	Diabetes mellitus	64788	LMF1	OMIM:246650
HP:0000819	Diabetes mellitus	5333	PLCD1	ORPHA:2387
HP:0000819	Diabetes mellitus	84984	CEP19	OMIM:615703
HP:0000819	Diabetes mellitus	5116	PCNT	OMIM:210720
HP:0000819	Diabetes mellitus	25942	SIN3A	OMIM:613406
HP:0000819	Diabetes mellitus	5192	PEX10	ORPHA:247815
HP:0000819	Diabetes mellitus	1588	CYP19A1	ORPHA:91
HP:0000819	Diabetes mellitus	8462	KLF11	ORPHA:552
HP:0000819	Diabetes mellitus	640	BLK	ORPHA:552
HP:0000819	Diabetes mellitus	1056	CEL	ORPHA:552
HP:0000819	Diabetes mellitus	4760	NEUROD1	ORPHA:552
HP:0000819	Diabetes mellitus	3651	PDX1	ORPHA:552
HP:0000819	Diabetes mellitus	6833	ABCC8	ORPHA:552
HP:0000819	Diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0000819	Diabetes mellitus	6833	ABCC8	ORPHA:99886
HP:0000819	Diabetes mellitus	57061	HYMAI	OMIM:601410
HP:0000819	Diabetes mellitus	57061	HYMAI	ORPHA:99886
HP:0000819	Diabetes mellitus	346171	ZFP57	OMIM:601410
HP:0000819	Diabetes mellitus	346171	ZFP57	ORPHA:99886
HP:0000819	Diabetes mellitus	5325	PLAGL1	ORPHA:99886
HP:0000819	Diabetes mellitus	2260	FGFR1	ORPHA:280200
HP:0000819	Diabetes mellitus	2260	FGFR1	ORPHA:3157
HP:0000819	Diabetes mellitus	28514	DLL1	ORPHA:280200
HP:0000819	Diabetes mellitus	2253	FGF8	ORPHA:280200
HP:0000819	Diabetes mellitus	6496	SIX3	ORPHA:280200
HP:0000819	Diabetes mellitus	7050	TGIF1	ORPHA:280200
HP:0000819	Diabetes mellitus	4838	NODAL	ORPHA:280200
HP:0000819	Diabetes mellitus	6469	SHH	ORPHA:280200
HP:0000819	Diabetes mellitus	51684	SUFU	ORPHA:280200
HP:0000819	Diabetes mellitus	7546	ZIC2	ORPHA:280200
HP:0000819	Diabetes mellitus	2619	GAS1	ORPHA:280200
HP:0000819	Diabetes mellitus	84976	DISP1	ORPHA:280200
HP:0000819	Diabetes mellitus	2736	GLI2	ORPHA:280200
HP:0000819	Diabetes mellitus	8928	FOXH1	ORPHA:280200
HP:0000819	Diabetes mellitus	5727	PTCH1	ORPHA:280200
HP:0000819	Diabetes mellitus	50937	CDON	ORPHA:280200
HP:0000819	Diabetes mellitus	2215	FCGR3B	ORPHA:464370
HP:0000819	Diabetes mellitus	8260	NAA10	OMIM:300855
HP:0000819	Diabetes mellitus	81839	VANGL1	ORPHA:3027
HP:0000819	Diabetes mellitus	80199	FUZ	ORPHA:3027
HP:0000819	Diabetes mellitus	4524	MTHFR	ORPHA:563612
HP:0000819	Diabetes mellitus	4524	MTHFR	ORPHA:563609
HP:0000819	Diabetes mellitus	57216	VANGL2	ORPHA:563612
HP:0000819	Diabetes mellitus	57216	VANGL2	ORPHA:563609
HP:0000819	Diabetes mellitus	1482	NKX2-5	ORPHA:2248
HP:0000819	Diabetes mellitus	128674	PROKR2	ORPHA:3157
HP:0000819	Diabetes mellitus	6657	SOX2	ORPHA:3157
HP:0000819	Diabetes mellitus	6658	SOX3	ORPHA:3157
HP:0000819	Diabetes mellitus	9915	ARNT2	ORPHA:3157
HP:0000819	Diabetes mellitus	8820	HESX1	ORPHA:3157
HP:0000819	Diabetes mellitus	5015	OTX2	ORPHA:3157
HP:0000819	Diabetes mellitus	1280	COL2A1	ORPHA:93346
HP:0000819	Diabetes mellitus	10043	TOM1	ORPHA:391487
HP:0000819	Diabetes mellitus	10068	IL18BP	OMIM:618549
HP:0000819	Diabetes mellitus	2321	FLT1	ORPHA:275555
HP:0000819	Diabetes mellitus	219736	STOX1	ORPHA:275555
HP:0000819	Diabetes mellitus	10699	CORIN	ORPHA:275555
HP:0000819	Diabetes mellitus	987	LRBA	OMIM:614700
HP:0000819	Diabetes mellitus	50943	FOXP3	OMIM:304790
HP:0000819	Diabetes mellitus	50943	FOXP3	ORPHA:37042
HP:0000819	Diabetes mellitus	60401	EDA2R	ORPHA:181
HP:0000819	Diabetes mellitus	1896	EDA	ORPHA:181
HP:0000819	Diabetes mellitus	83737	ITCH	OMIM:613385
HP:0000819	Diabetes mellitus	83737	ITCH	ORPHA:228426
HP:0000819	Diabetes mellitus	84340	GFM2	OMIM:618397
HP:0000819	Diabetes mellitus	50674	NEUROG3	ORPHA:83620
HP:0000819	Diabetes mellitus	51816	ADA2	OMIM:615688
HP:0000819	Diabetes mellitus	2542	SLC37A4	OMIM:619525
HP:0000819	Diabetes mellitus	7086	TKT	ORPHA:488618
HP:0000819	Diabetes mellitus	2859	GPR35	ORPHA:171
HP:0000819	Diabetes mellitus	10507	SEMA4D	ORPHA:171
HP:0000819	Diabetes mellitus	4485	MST1	ORPHA:171
HP:0000819	Diabetes mellitus	6925	TCF4	ORPHA:171
HP:0000819	Diabetes mellitus	326	AIRE	OMIM:240300
HP:0000819	Diabetes mellitus	1777	DNASE2	OMIM:619858
HP:0000819	Diabetes mellitus	10273	STUB1	ORPHA:412057
HP:0000819	Diabetes mellitus	284252	KCTD1	ORPHA:2036
HP:0000819	Diabetes mellitus	5297	PI4KA	ORPHA:436252
HP:0000819	Diabetes mellitus	57217	TTC7A	ORPHA:436252
HP:0000819	Diabetes mellitus	847	CAT	ORPHA:926
HP:0000819	Diabetes mellitus	3117	HLA-DQA1	OMIM:212750
HP:0000819	Diabetes mellitus	9570	GOSR2	OMIM:620166
HP:0000819	Diabetes mellitus	4556	MT-TE	ORPHA:2596
HP:0000819	Diabetes mellitus	1854	DUT	OMIM:620044
HP:0000819	Diabetes mellitus	51311	TLR8	OMIM:301078
HP:0000819	Diabetes mellitus	4313	MMP2	ORPHA:371428
HP:0000819	Diabetes mellitus	4323	MMP14	ORPHA:371428
HP:0000819	Diabetes mellitus	375056	MIA3	OMIM:619269
HP:0000819	Diabetes mellitus	23312	DMXL2	OMIM:616113
HP:0000819	Diabetes mellitus	9051	PSTPIP1	ORPHA:69126
HP:0000819	Diabetes mellitus	6688	SPI1	OMIM:619707
HP:0000819	Diabetes mellitus	1188	CLCNKB	ORPHA:358
HP:0000819	Diabetes mellitus	6559	SLC12A3	ORPHA:358
HP:0040171	Decreased serum testosterone concentration	2260	FGFR1	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	81848	SPRY4	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	128674	PROKR2	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	2253	FGF8	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	60675	PROK2	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	55636	CHD7	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	6870	TACR3	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	1848	DUSP6	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	26012	NSMF	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	55717	WDR11	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	9394	HS6ST1	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	2796	GNRH1	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	2796	GNRH1	OMIM:614841
HP:0040171	Decreased serum testosterone concentration	2798	GNRHR	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	84634	KISS1R	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	6866	TAC3	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	6866	TAC3	OMIM:614839
HP:0040171	Decreased serum testosterone concentration	8822	FGF17	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	3814	KISS1	ORPHA:432
HP:0040171	Decreased serum testosterone concentration	55131	RBM28	ORPHA:157954
HP:0040171	Decreased serum testosterone concentration	2245	FGD1	OMIM:305400
HP:0040171	Decreased serum testosterone concentration	23312	DMXL2	ORPHA:453533
HP:0040171	Decreased serum testosterone concentration	57647	DHX37	OMIM:273250
HP:0040171	Decreased serum testosterone concentration	57647	DHX37	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	8314	BAP1	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	4771	NF2	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	6598	SMARCB1	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	5155	PDGFB	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	84231	TRAF7	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	6608	SMO	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	207	AKT1	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	5290	PIK3CA	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	7015	TERT	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	51684	SUFU	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	6605	SMARCE1	ORPHA:2495
HP:0040171	Decreased serum testosterone concentration	80067	DCAF17	ORPHA:3464
HP:0040171	Decreased serum testosterone concentration	80067	DCAF17	OMIM:241080
HP:0040171	Decreased serum testosterone concentration	2488	FSHB	ORPHA:52901
HP:0040171	Decreased serum testosterone concentration	3972	LHB	OMIM:228300
HP:0040171	Decreased serum testosterone concentration	1528	CYB5A	ORPHA:90796
HP:0040171	Decreased serum testosterone concentration	1586	CYP17A1	ORPHA:90796
HP:0040171	Decreased serum testosterone concentration	1586	CYP17A1	ORPHA:90793
HP:0040171	Decreased serum testosterone concentration	1363	CPE	OMIM:619326
HP:0040171	Decreased serum testosterone concentration	3952	LEP	ORPHA:66628
HP:0040171	Decreased serum testosterone concentration	5422	POLA1	ORPHA:163976
HP:0040171	Decreased serum testosterone concentration	3284	HSD3B2	ORPHA:90791
HP:0040171	Decreased serum testosterone concentration	79625	NDNF	OMIM:618841
HP:0040171	Decreased serum testosterone concentration	57697	FANCM	OMIM:618086
HP:0040171	Decreased serum testosterone concentration	654	BMP6	ORPHA:465508
HP:0040171	Decreased serum testosterone concentration	3077	HFE	ORPHA:465508
HP:0040171	Decreased serum testosterone concentration	55366	LGR4	OMIM:619613
HP:0040171	Decreased serum testosterone concentration	2583	B4GALNT1	ORPHA:101006
HP:0040171	Decreased serum testosterone concentration	2583	B4GALNT1	OMIM:609195
HP:0040171	Decreased serum testosterone concentration	3730	ANOS1	OMIM:308700
HP:0040171	Decreased serum testosterone concentration	93953	GCNA	OMIM:301077
HP:0040171	Decreased serum testosterone concentration	55630	SLC39A4	OMIM:201100
HP:0040171	Decreased serum testosterone concentration	389549	FEZF1	OMIM:616030
HP:0040171	Decreased serum testosterone concentration	6736	SRY	ORPHA:1772
HP:0040171	Decreased serum testosterone concentration	6736	SRY	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	3953	LEPR	ORPHA:179494
HP:0040171	Decreased serum testosterone concentration	6662	SOX9	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	6845	VAMP7	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	51741	WWOX	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	4214	MAP3K1	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	2516	NR5A1	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	7490	WT1	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	58524	DMRT3	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	23414	ZFPM2	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	190	NR0B1	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	2626	GATA4	ORPHA:251510
HP:0040171	Decreased serum testosterone concentration	10371	SEMA3A	OMIM:614897
HP:0040171	Decreased serum testosterone concentration	50846	DHH	ORPHA:168563
HP:0008231	Macronodular adrenal hyperplasia	79798	ARMC5	ORPHA:189427
HP:0008231	Macronodular adrenal hyperplasia	79798	ARMC5	OMIM:615954
HP:0008231	Macronodular adrenal hyperplasia	2778	GNAS	ORPHA:189427
HP:0008231	Macronodular adrenal hyperplasia	2778	GNAS	OMIM:219080
HP:0008232	Elevated circulating follicle stimulating hormone level	2245	FGD1	OMIM:305400
HP:0008232	Elevated circulating follicle stimulating hormone level	286053	NSMCE2	OMIM:617253
HP:0008232	Elevated circulating follicle stimulating hormone level	1730	DIAPH2	OMIM:300511
HP:0008232	Elevated circulating follicle stimulating hormone level	402381	SOHLH1	OMIM:617690
HP:0008232	Elevated circulating follicle stimulating hormone level	2100	ESR2	OMIM:618187
HP:0008232	Elevated circulating follicle stimulating hormone level	84515	MCM8	OMIM:612885
HP:0008232	Elevated circulating follicle stimulating hormone level	57647	DHX37	OMIM:273250
HP:0008232	Elevated circulating follicle stimulating hormone level	57647	DHX37	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	2516	NR5A1	OMIM:612964
HP:0008232	Elevated circulating follicle stimulating hormone level	2516	NR5A1	OMIM:612965
HP:0008232	Elevated circulating follicle stimulating hormone level	2516	NR5A1	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	125150	ZSWIM7	OMIM:619834
HP:0008232	Elevated circulating follicle stimulating hormone level	8468	FKBP6	OMIM:620103
HP:0008232	Elevated circulating follicle stimulating hormone level	6736	SRY	OMIM:400044
HP:0008232	Elevated circulating follicle stimulating hormone level	6736	SRY	OMIM:400045
HP:0008232	Elevated circulating follicle stimulating hormone level	6736	SRY	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	5447	POR	ORPHA:95699
HP:0008232	Elevated circulating follicle stimulating hormone level	7555	CNBP	OMIM:602668
HP:0008232	Elevated circulating follicle stimulating hormone level	317761	C14orf39	OMIM:619203
HP:0008232	Elevated circulating follicle stimulating hormone level	3972	LHB	OMIM:228300
HP:0008232	Elevated circulating follicle stimulating hormone level	1528	CYB5A	ORPHA:90796
HP:0008232	Elevated circulating follicle stimulating hormone level	1586	CYP17A1	ORPHA:90796
HP:0008232	Elevated circulating follicle stimulating hormone level	1586	CYP17A1	ORPHA:90793
HP:0008232	Elevated circulating follicle stimulating hormone level	84225	ZMYND15	OMIM:615842
HP:0008232	Elevated circulating follicle stimulating hormone level	164045	HFM1	OMIM:615724
HP:0008232	Elevated circulating follicle stimulating hormone level	84634	KISS1R	OMIM:176400
HP:0008232	Elevated circulating follicle stimulating hormone level	56945	MRPS22	OMIM:618117
HP:0008232	Elevated circulating follicle stimulating hormone level	10734	STAG3	OMIM:615723
HP:0008232	Elevated circulating follicle stimulating hormone level	668	FOXL2	ORPHA:572333
HP:0008232	Elevated circulating follicle stimulating hormone level	254394	MCM9	OMIM:616185
HP:0008232	Elevated circulating follicle stimulating hormone level	57697	FANCM	OMIM:618086
HP:0008232	Elevated circulating follicle stimulating hormone level	57697	FANCM	OMIM:618096
HP:0008232	Elevated circulating follicle stimulating hormone level	29893	PSMC3IP	OMIM:614324
HP:0008232	Elevated circulating follicle stimulating hormone level	4438	MSH4	OMIM:619938
HP:0008232	Elevated circulating follicle stimulating hormone level	2074	ERCC6	OMIM:616946
HP:0008232	Elevated circulating follicle stimulating hormone level	1583	CYP11A1	ORPHA:168558
HP:0008232	Elevated circulating follicle stimulating hormone level	1583	CYP11A1	ORPHA:289548
HP:0008232	Elevated circulating follicle stimulating hormone level	8192	CLPP	OMIM:614129
HP:0008232	Elevated circulating follicle stimulating hormone level	646	BNC1	OMIM:618723
HP:0008232	Elevated circulating follicle stimulating hormone level	658	BMPR1B	OMIM:609441
HP:0008232	Elevated circulating follicle stimulating hormone level	367	AR	OMIM:300068
HP:0008232	Elevated circulating follicle stimulating hormone level	84733	CBX2	OMIM:613080
HP:0008232	Elevated circulating follicle stimulating hormone level	93953	GCNA	OMIM:301077
HP:0008232	Elevated circulating follicle stimulating hormone level	7516	XRCC2	OMIM:619146
HP:0008232	Elevated circulating follicle stimulating hormone level	2661	GDF9	OMIM:618014
HP:0008232	Elevated circulating follicle stimulating hormone level	23514	SPIDR	OMIM:619665
HP:0008232	Elevated circulating follicle stimulating hormone level	4439	MSH5	OMIM:617442
HP:0008232	Elevated circulating follicle stimulating hormone level	55012	PPP2R3C	OMIM:618419
HP:0008232	Elevated circulating follicle stimulating hormone level	344018	FIGLA	OMIM:612310
HP:0008232	Elevated circulating follicle stimulating hormone level	158401	SHOC1	OMIM:619949
HP:0008232	Elevated circulating follicle stimulating hormone level	6662	SOX9	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	6845	VAMP7	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	51741	WWOX	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	4214	MAP3K1	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	7490	WT1	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	58524	DMRT3	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	23414	ZFPM2	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	190	NR0B1	ORPHA:251510
HP:0008232	Elevated circulating follicle stimulating hormone level	2626	GATA4	ORPHA:251510
HP:0008233	Decreased circulating progesterone	1967	EIF2B1	OMIM:603896
HP:0008233	Decreased circulating progesterone	5447	POR	OMIM:201750
HP:0008233	Decreased circulating progesterone	668	FOXL2	ORPHA:572333
HP:0001070	Mottled pigmentation	50506	DUOX2	ORPHA:226316
HP:0001070	Mottled pigmentation	4000	LMNA	OMIM:248370
HP:0001070	Mottled pigmentation	10269	ZMPSTE24	OMIM:608612
HP:0001070	Mottled pigmentation	9401	RECQL4	OMIM:266280
HP:0001070	Mottled pigmentation	3852	KRT5	ORPHA:79397
HP:0001070	Mottled pigmentation	3861	KRT14	ORPHA:79397
HP:0001070	Mottled pigmentation	84946	LTV1	OMIM:620199
HP:0001070	Mottled pigmentation	3248	HPGD	ORPHA:1525
HP:0001071	Angiokeratoma corporis diffusum	4668	NAGA	ORPHA:79280
HP:0001071	Angiokeratoma corporis diffusum	4668	NAGA	OMIM:609242
HP:0001071	Angiokeratoma corporis diffusum	175	AGA	OMIM:208400
HP:0001071	Angiokeratoma corporis diffusum	2720	GLB1	OMIM:230500
HP:0001071	Angiokeratoma corporis diffusum	2717	GLA	OMIM:301500
HP:0001072	Thickened skin	9509	ADAMTS2	OMIM:225410
HP:0001072	Thickened skin	3767	KCNJ11	ORPHA:552
HP:0001072	Thickened skin	8462	KLF11	ORPHA:552
HP:0001072	Thickened skin	2645	GCK	ORPHA:552
HP:0001072	Thickened skin	26060	APPL1	ORPHA:552
HP:0001072	Thickened skin	640	BLK	ORPHA:552
HP:0001072	Thickened skin	1056	CEL	ORPHA:552
HP:0001072	Thickened skin	4760	NEUROD1	ORPHA:552
HP:0001072	Thickened skin	3651	PDX1	ORPHA:552
HP:0001072	Thickened skin	6833	ABCC8	ORPHA:552
HP:0001072	Thickened skin	5078	PAX4	ORPHA:552
HP:0001072	Thickened skin	3172	HNF4A	ORPHA:552
HP:0001072	Thickened skin	6927	HNF1A	ORPHA:552
HP:0001072	Thickened skin	3630	INS	ORPHA:552
HP:0001072	Thickened skin	699	BUB1	OMIM:620183
HP:0001072	Thickened skin	7840	ALMS1	ORPHA:64
HP:0001072	Thickened skin	7840	ALMS1	OMIM:203800
HP:0001072	Thickened skin	3643	INSR	OMIM:262190
HP:0001072	Thickened skin	3643	INSR	ORPHA:508
HP:0001072	Thickened skin	3643	INSR	OMIM:246200
HP:0001072	Thickened skin	3643	INSR	ORPHA:769
HP:0001072	Thickened skin	286053	NSMCE2	OMIM:617253
HP:0001072	Thickened skin	2261	FGFR3	OMIM:616482
HP:0001072	Thickened skin	2261	FGFR3	OMIM:612247
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:93274
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:93262
HP:0001072	Thickened skin	2261	FGFR3	OMIM:146000
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:85165
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:1860
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:15
HP:0001072	Thickened skin	26580	BSCL2	OMIM:269700
HP:0001072	Thickened skin	26580	BSCL2	ORPHA:363400
HP:0001072	Thickened skin	26580	BSCL2	ORPHA:528
HP:0001072	Thickened skin	5122	PCSK1	ORPHA:71528
HP:0001072	Thickened skin	4160	MC4R	ORPHA:71529
HP:0001072	Thickened skin	3991	LIPE	ORPHA:435660
HP:0001072	Thickened skin	3991	LIPE	OMIM:615980
HP:0001072	Thickened skin	3290	HSD11B1	OMIM:614662
HP:0001072	Thickened skin	91461	PKDCC	OMIM:618821
HP:0001072	Thickened skin	63924	CIDEC	OMIM:615238
HP:0001072	Thickened skin	63924	CIDEC	ORPHA:435651
HP:0001072	Thickened skin	5443	POMC	ORPHA:71526
HP:0001072	Thickened skin	857	CAV1	OMIM:612526
HP:0001072	Thickened skin	857	CAV1	ORPHA:528
HP:0001072	Thickened skin	857	CAV1	OMIM:606721
HP:0001072	Thickened skin	5189	PEX1	ORPHA:3220
HP:0001072	Thickened skin	5190	PEX6	ORPHA:3220
HP:0001072	Thickened skin	2099	ESR1	ORPHA:785
HP:0001072	Thickened skin	2099	ESR1	OMIM:615363
HP:0001072	Thickened skin	27125	AFF4	ORPHA:444077
HP:0001072	Thickened skin	5346	PLIN1	ORPHA:280356
HP:0001072	Thickened skin	5346	PLIN1	OMIM:613877
HP:0001072	Thickened skin	5468	PPARG	OMIM:604367
HP:0001072	Thickened skin	5468	PPARG	ORPHA:79083
HP:0001072	Thickened skin	5468	PPARG	ORPHA:528
HP:0001072	Thickened skin	3728	JUP	ORPHA:34217
HP:0001072	Thickened skin	2263	FGFR2	ORPHA:1555
HP:0001072	Thickened skin	2263	FGFR2	OMIM:123790
HP:0001072	Thickened skin	2263	FGFR2	ORPHA:207
HP:0001072	Thickened skin	8450	CUL4B	ORPHA:85293
HP:0001072	Thickened skin	9076	CLDN1	ORPHA:59303
HP:0001072	Thickened skin	11128	POLR3A	ORPHA:3455
HP:0001072	Thickened skin	7030	TFE3	OMIM:301066
HP:0001072	Thickened skin	5692	PSMB4	OMIM:617591
HP:0001072	Thickened skin	5698	PSMB9	OMIM:617591
HP:0001072	Thickened skin	7518	XRCC4	OMIM:616541
HP:0001072	Thickened skin	6603	SMARCD2	OMIM:617475
HP:0001072	Thickened skin	1315	COPB1	OMIM:619255
HP:0001072	Thickened skin	64834	ELOVL1	OMIM:618527
HP:0001072	Thickened skin	208	AKT2	ORPHA:79085
HP:0001072	Thickened skin	2077	ERF	ORPHA:207
HP:0001072	Thickened skin	10555	AGPAT2	ORPHA:528
HP:0001072	Thickened skin	10555	AGPAT2	OMIM:608594
HP:0001072	Thickened skin	284119	CAVIN1	ORPHA:528
HP:0001072	Thickened skin	284119	CAVIN1	OMIM:613327
HP:0001072	Thickened skin	2353	FOS	ORPHA:528
HP:0001072	Thickened skin	83550	GPR101	ORPHA:963
HP:0001072	Thickened skin	83550	GPR101	OMIM:300942
HP:0001072	Thickened skin	9049	AIP	ORPHA:963
HP:0001072	Thickened skin	3265	HRAS	ORPHA:3071
HP:0001072	Thickened skin	3265	HRAS	OMIM:218040
HP:0001072	Thickened skin	5696	PSMB8	OMIM:256040
HP:0001072	Thickened skin	3720	JARID2	OMIM:620098
HP:0001072	Thickened skin	1588	CYP19A1	ORPHA:91
HP:0001072	Thickened skin	11005	SPINK5	ORPHA:634
HP:0001072	Thickened skin	8036	SHOC2	OMIM:607721
HP:0001072	Thickened skin	8216	LZTR1	OMIM:616564
HP:0001072	Thickened skin	8216	LZTR1	OMIM:605275
HP:0001072	Thickened skin	25923	ATL3	OMIM:615632
HP:0001072	Thickened skin	25923	ATL3	ORPHA:36386
HP:0001072	Thickened skin	100151683	RNU4ATAC	OMIM:210710
HP:0001072	Thickened skin	6016	RIT1	OMIM:615355
HP:0001072	Thickened skin	673	BRAF	OMIM:115150
HP:0001072	Thickened skin	673	BRAF	ORPHA:1340
HP:0001072	Thickened skin	673	BRAF	OMIM:613707
HP:0001072	Thickened skin	4254	KITLG	OMIM:145250
HP:0001072	Thickened skin	9526	MPDU1	OMIM:609180
HP:0001072	Thickened skin	79755	ZNF750	OMIM:610227
HP:0001072	Thickened skin	56983	POGLUT1	ORPHA:79145
HP:0001072	Thickened skin	23509	POFUT1	ORPHA:79145
HP:0001072	Thickened skin	55851	PSENEN	ORPHA:79145
HP:0001072	Thickened skin	8626	TP63	OMIM:604292
HP:0001072	Thickened skin	8626	TP63	ORPHA:1896
HP:0001072	Thickened skin	3106	HLA-B	ORPHA:29207
HP:0001072	Thickened skin	831	CAST	OMIM:616295
HP:0001072	Thickened skin	23586	RIGI	OMIM:616298
HP:0001072	Thickened skin	1294	COL7A1	ORPHA:89843
HP:0001072	Thickened skin	1294	COL7A1	OMIM:131850
HP:0001072	Thickened skin	5167	ENPP1	OMIM:615522
HP:0001072	Thickened skin	51360	MBTPS2	OMIM:300918
HP:0001072	Thickened skin	51360	MBTPS2	ORPHA:2273
HP:0001072	Thickened skin	51360	MBTPS2	OMIM:308205
HP:0001072	Thickened skin	63916	ELMO2	ORPHA:3019
HP:0001072	Thickened skin	4574	MT-TS1	ORPHA:2202
HP:0001072	Thickened skin	79644	SRD5A3	OMIM:612379
HP:0001072	Thickened skin	224	ALDH3A2	ORPHA:816
HP:0001072	Thickened skin	64065	PERP	OMIM:619208
HP:0001072	Thickened skin	4758	NEU1	ORPHA:812
HP:0001072	Thickened skin	55780	ERMARD	ORPHA:75857
HP:0001072	Thickened skin	27032	ATP2C1	ORPHA:2841
HP:0001072	Thickened skin	164656	TMPRSS6	ORPHA:209981
HP:0001072	Thickened skin	284058	KANSL1	ORPHA:363958
HP:0001072	Thickened skin	284058	KANSL1	ORPHA:363965
HP:0001072	Thickened skin	102	ADAM10	OMIM:615537
HP:0001072	Thickened skin	5604	MAP2K1	ORPHA:1340
HP:0001072	Thickened skin	5604	MAP2K1	OMIM:615279
HP:0001072	Thickened skin	5605	MAP2K2	ORPHA:1340
HP:0001072	Thickened skin	3845	KRAS	ORPHA:1340
HP:0001072	Thickened skin	22845	DOLK	OMIM:610768
HP:0001072	Thickened skin	2717	GLA	ORPHA:324
HP:0001072	Thickened skin	6898	TAT	ORPHA:28378
HP:0001072	Thickened skin	1475	CSTA	OMIM:607936
HP:0001072	Thickened skin	57511	COG6	OMIM:614576
HP:0001072	Thickened skin	23086	EXPH5	OMIM:615028
HP:0001072	Thickened skin	84818	IL17RC	ORPHA:1334
HP:0001072	Thickened skin	64581	CLEC7A	ORPHA:1334
HP:0001072	Thickened skin	23765	IL17RA	ORPHA:1334
HP:0001072	Thickened skin	10758	TRAF3IP2	ORPHA:1334
HP:0001072	Thickened skin	112744	IL17F	ORPHA:1334
HP:0001072	Thickened skin	1001	CDH3	ORPHA:1573
HP:0001072	Thickened skin	9487	PIGL	ORPHA:3474
HP:0001072	Thickened skin	643418	LIPN	ORPHA:313
HP:0001072	Thickened skin	643418	LIPN	OMIM:613943
HP:0001072	Thickened skin	121214	SDR9C7	ORPHA:313
HP:0001072	Thickened skin	121214	SDR9C7	OMIM:617574
HP:0001072	Thickened skin	10558	SPTLC1	ORPHA:36386
HP:0001072	Thickened skin	9517	SPTLC2	ORPHA:36386
HP:0001072	Thickened skin	51062	ATL1	ORPHA:36386
HP:0001072	Thickened skin	134218	DNAJC21	OMIM:617052
HP:0001072	Thickened skin	1041	CDSN	ORPHA:90368
HP:0001072	Thickened skin	121391	KRT74	ORPHA:90368
HP:0001072	Thickened skin	10013	HDAC6	ORPHA:163966
HP:0001072	Thickened skin	5184	PEPD	ORPHA:742
HP:0001072	Thickened skin	8517	IKBKG	ORPHA:464
HP:0001072	Thickened skin	8517	IKBKG	OMIM:308300
HP:0001072	Thickened skin	2312	FLG	ORPHA:461
HP:0001072	Thickened skin	5159	PDGFRB	OMIM:601812
HP:0001072	Thickened skin	207	AKT1	OMIM:176920
HP:0001072	Thickened skin	3557	IL1RN	OMIM:612852
HP:0001072	Thickened skin	10654	PMVK	ORPHA:735
HP:0001072	Thickened skin	4598	MVK	ORPHA:735
HP:0001072	Thickened skin	57165	GJC2	ORPHA:79452
HP:0001072	Thickened skin	1303	COL12A1	ORPHA:610
HP:0001072	Thickened skin	1291	COL6A1	ORPHA:610
HP:0001072	Thickened skin	1292	COL6A2	ORPHA:610
HP:0001072	Thickened skin	1293	COL6A3	ORPHA:610
HP:0001072	Thickened skin	1893	ECM1	ORPHA:530
HP:0001072	Thickened skin	1893	ECM1	OMIM:247100
HP:0001072	Thickened skin	57609	DIP2B	OMIM:136630
HP:0001072	Thickened skin	5422	POLA1	OMIM:301220
HP:0001072	Thickened skin	55612	FERMT1	ORPHA:2908
HP:0001072	Thickened skin	3889	KRT83	OMIM:617756
HP:0001072	Thickened skin	79977	GRHL2	OMIM:616029
HP:0001072	Thickened skin	4668	NAGA	ORPHA:79280
HP:0001072	Thickened skin	4668	NAGA	OMIM:609242
HP:0001072	Thickened skin	4668	NAGA	ORPHA:79279
HP:0001072	Thickened skin	5271	SERPINB8	OMIM:617115
HP:0001072	Thickened skin	79092	CARD14	OMIM:602723
HP:0001072	Thickened skin	162	AP1B1	ORPHA:171851
HP:0001072	Thickened skin	1174	AP1S1	ORPHA:171851
HP:0001072	Thickened skin	2744	GLS	OMIM:618339
HP:0001072	Thickened skin	29969	MDFIC	OMIM:620014
HP:0001072	Thickened skin	1493	CTLA4	ORPHA:2584
HP:0001072	Thickened skin	940	CD28	ORPHA:2584
HP:0001072	Thickened skin	7133	TNFRSF1B	ORPHA:2584
HP:0001072	Thickened skin	7299	TYR	ORPHA:79431
HP:0001072	Thickened skin	7507	XPA	ORPHA:910
HP:0001072	Thickened skin	7508	XPC	ORPHA:910
HP:0001072	Thickened skin	1643	DDB2	ORPHA:910
HP:0001072	Thickened skin	2072	ERCC4	ORPHA:910
HP:0001072	Thickened skin	2073	ERCC5	ORPHA:910
HP:0001072	Thickened skin	7424	VEGFC	OMIM:615907
HP:0001072	Thickened skin	5317	PKP1	OMIM:604536
HP:0001072	Thickened skin	55651	NHP2	OMIM:224230
HP:0001072	Thickened skin	55505	NOP10	OMIM:224230
HP:0001072	Thickened skin	1075	CTSC	OMIM:170650
HP:0001072	Thickened skin	1075	CTSC	OMIM:245000
HP:0001072	Thickened skin	1075	CTSC	ORPHA:678
HP:0001072	Thickened skin	10651	MTX2	OMIM:619127
HP:0001072	Thickened skin	5818	NECTIN1	ORPHA:3253
HP:0001072	Thickened skin	5818	NECTIN1	OMIM:225060
HP:0001072	Thickened skin	7015	TERT	OMIM:613989
HP:0001072	Thickened skin	9896	FIG4	OMIM:216340
HP:0001072	Thickened skin	7286	TUFT1	OMIM:607655
HP:0001072	Thickened skin	667	DST	OMIM:615425
HP:0001072	Thickened skin	9015	TAF1A	ORPHA:154
HP:0001072	Thickened skin	5663	PSEN1	ORPHA:154
HP:0001072	Thickened skin	6389	SDHA	ORPHA:154
HP:0001072	Thickened skin	7112	TMPO	ORPHA:154
HP:0001072	Thickened skin	9464	HAND2	ORPHA:154
HP:0001072	Thickened skin	4625	MYH7	ORPHA:154
HP:0001072	Thickened skin	88	ACTN2	ORPHA:154
HP:0001072	Thickened skin	10486	CAP2	ORPHA:154
HP:0001072	Thickened skin	10060	ABCC9	ORPHA:154
HP:0001072	Thickened skin	7168	TPM1	ORPHA:154
HP:0001072	Thickened skin	7414	VCL	ORPHA:154
HP:0001072	Thickened skin	70	ACTC1	ORPHA:154
HP:0001072	Thickened skin	27063	ANKRD1	ORPHA:154
HP:0001072	Thickened skin	8048	CSRP3	ORPHA:154
HP:0001072	Thickened skin	7139	TNNT2	ORPHA:154
HP:0001072	Thickened skin	1829	DSG2	ORPHA:154
HP:0001072	Thickened skin	3910	LAMA4	ORPHA:154
HP:0001072	Thickened skin	63976	PRDM16	ORPHA:154
HP:0001072	Thickened skin	7273	TTN	ORPHA:154
HP:0001072	Thickened skin	10587	TXNRD2	ORPHA:154
HP:0001072	Thickened skin	9531	BAG3	ORPHA:154
HP:0001072	Thickened skin	5350	PLN	ORPHA:154
HP:0001072	Thickened skin	91624	NEXN	ORPHA:154
HP:0001072	Thickened skin	79717	PPCS	ORPHA:154
HP:0001072	Thickened skin	5664	PSEN2	ORPHA:154
HP:0001072	Thickened skin	4624	MYH6	ORPHA:154
HP:0001072	Thickened skin	9529	BAG5	ORPHA:154
HP:0001072	Thickened skin	4607	MYBPC3	ORPHA:154
HP:0001072	Thickened skin	282996	RBM20	ORPHA:154
HP:0001072	Thickened skin	7137	TNNI3	ORPHA:154
HP:0001072	Thickened skin	11155	LDB3	ORPHA:154
HP:0001072	Thickened skin	2274	FHL2	ORPHA:154
HP:0001072	Thickened skin	6901	TAFAZZIN	ORPHA:154
HP:0001072	Thickened skin	5894	RAF1	ORPHA:154
HP:0001072	Thickened skin	1756	DMD	ORPHA:154
HP:0001072	Thickened skin	57798	GATAD1	ORPHA:154
HP:0001072	Thickened skin	7134	TNNC1	ORPHA:154
HP:0001072	Thickened skin	84665	MYPN	ORPHA:154
HP:0001072	Thickened skin	1674	DES	ORPHA:154
HP:0001072	Thickened skin	6444	SGCD	ORPHA:154
HP:0001072	Thickened skin	6331	SCN5A	ORPHA:154
HP:0001072	Thickened skin	2218	FKTN	ORPHA:154
HP:0001072	Thickened skin	8557	TCAP	ORPHA:154
HP:0001072	Thickened skin	1308	COL17A1	ORPHA:79406
HP:0001072	Thickened skin	1308	COL17A1	ORPHA:79402
HP:0001072	Thickened skin	4312	MMP1	ORPHA:79408
HP:0001072	Thickened skin	1824	DSC2	OMIM:610476
HP:0001072	Thickened skin	3909	LAMA3	ORPHA:79402
HP:0001072	Thickened skin	3918	LAMC2	ORPHA:79402
HP:0001072	Thickened skin	3691	ITGB4	ORPHA:79402
HP:0001072	Thickened skin	23328	SASH1	OMIM:618373
HP:0001072	Thickened skin	1474	CST6	OMIM:618535
HP:0001072	Thickened skin	25959	KANK2	OMIM:616099
HP:0001072	Thickened skin	57192	MCOLN1	ORPHA:578
HP:0001072	Thickened skin	80169	CTC1	ORPHA:1775
HP:0001072	Thickened skin	26277	TINF2	ORPHA:1775
HP:0001072	Thickened skin	55135	WRAP53	ORPHA:1775
HP:0001072	Thickened skin	51750	RTEL1	ORPHA:1775
HP:0001072	Thickened skin	4869	NPM1	ORPHA:1775
HP:0001072	Thickened skin	7012	TERC	ORPHA:1775
HP:0001072	Thickened skin	5073	PARN	ORPHA:1775
HP:0001072	Thickened skin	1736	DKC1	ORPHA:1775
HP:0001072	Thickened skin	7298	TYMS	ORPHA:1775
HP:0001072	Thickened skin	388698	FLG2	OMIM:618084
HP:0001072	Thickened skin	3939	LDHA	ORPHA:284426
HP:0001072	Thickened skin	26525	IL36RN	OMIM:614204
HP:0001072	Thickened skin	2074	ERCC6	OMIM:278800
HP:0001072	Thickened skin	54795	TRPM4	OMIM:618531
HP:0001072	Thickened skin	22861	NLRP1	OMIM:615225
HP:0001072	Thickened skin	4597	MVD	OMIM:614714
HP:0001072	Thickened skin	1798	DPAGT1	ORPHA:86309
HP:0001072	Thickened skin	2200	FBN1	OMIM:614185
HP:0001072	Thickened skin	2200	FBN1	OMIM:608328
HP:0001072	Thickened skin	2200	FBN1	ORPHA:2833
HP:0001072	Thickened skin	2200	FBN1	ORPHA:3449
HP:0001072	Thickened skin	2200	FBN1	OMIM:102370
HP:0001072	Thickened skin	118429	ANTXR2	ORPHA:2176
HP:0001072	Thickened skin	118429	ANTXR2	OMIM:228600
HP:0001072	Thickened skin	285590	SH3PXD2B	ORPHA:137834
HP:0001072	Thickened skin	6023	RMRP	ORPHA:39041
HP:0001072	Thickened skin	55636	CHD7	ORPHA:39041
HP:0001072	Thickened skin	3981	LIG4	ORPHA:39041
HP:0001072	Thickened skin	5896	RAG1	ORPHA:39041
HP:0001072	Thickened skin	5896	RAG1	OMIM:603554
HP:0001072	Thickened skin	5897	RAG2	ORPHA:39041
HP:0001072	Thickened skin	5897	RAG2	OMIM:603554
HP:0001072	Thickened skin	64421	DCLRE1C	ORPHA:39041
HP:0001072	Thickened skin	64421	DCLRE1C	OMIM:603554
HP:0001072	Thickened skin	100	ADA	ORPHA:39041
HP:0001072	Thickened skin	3575	IL7R	ORPHA:39041
HP:0001072	Thickened skin	3561	IL2RG	ORPHA:39041
HP:0001072	Thickened skin	9719	ADAMTSL2	OMIM:231050
HP:0001072	Thickened skin	411	ARSB	OMIM:253200
HP:0001072	Thickened skin	284252	KCTD1	OMIM:181270
HP:0001072	Thickened skin	4089	SMAD4	OMIM:139210
HP:0001072	Thickened skin	4089	SMAD4	ORPHA:2588
HP:0001072	Thickened skin	3832	KIF11	ORPHA:2526
HP:0001072	Thickened skin	65082	VPS33A	OMIM:617303
HP:0001072	Thickened skin	65082	VPS33A	ORPHA:505248
HP:0001072	Thickened skin	1277	COL1A1	ORPHA:31112
HP:0001072	Thickened skin	5155	PDGFB	ORPHA:31112
HP:0001072	Thickened skin	2720	GLB1	ORPHA:79255
HP:0001072	Thickened skin	3815	KIT	ORPHA:79455
HP:0001072	Thickened skin	79158	GNPTAB	ORPHA:576
HP:0001072	Thickened skin	79158	GNPTAB	OMIM:252600
HP:0001072	Thickened skin	6578	SLCO2A1	OMIM:614441
HP:0001072	Thickened skin	6578	SLCO2A1	OMIM:167100
HP:0001072	Thickened skin	6578	SLCO2A1	ORPHA:2796
HP:0001072	Thickened skin	4053	LTBP2	ORPHA:3449
HP:0001072	Thickened skin	81794	ADAMTS10	ORPHA:3449
HP:0001072	Thickened skin	81794	ADAMTS10	OMIM:277600
HP:0001072	Thickened skin	5297	PI4KA	ORPHA:436252
HP:0001072	Thickened skin	57217	TTC7A	ORPHA:436252
HP:0001072	Thickened skin	6261	RYR1	ORPHA:324581
HP:0001072	Thickened skin	51574	LARP7	ORPHA:319671
HP:0001072	Thickened skin	3248	HPGD	ORPHA:2796
HP:0001072	Thickened skin	4313	MMP2	OMIM:259600
HP:0001072	Thickened skin	538	ATP7A	ORPHA:565
HP:0001072	Thickened skin	203068	TUBB	ORPHA:2505
HP:0001072	Thickened skin	10982	MAPRE2	ORPHA:2505
HP:0001072	Thickened skin	5498	PPOX	ORPHA:79473
HP:0001072	Thickened skin	4853	NOTCH2	ORPHA:955
HP:0001072	Thickened skin	2623	GATA1	ORPHA:79277
HP:0001072	Thickened skin	3425	IDUA	OMIM:607015
HP:0001072	Thickened skin	4763	NF1	ORPHA:97685
HP:0001072	Thickened skin	51151	SLC45A2	ORPHA:79435
HP:0001072	Thickened skin	4054	LTBP3	OMIM:617809
HP:0001072	Thickened skin	162514	TRPV3	OMIM:616400
HP:0001072	Thickened skin	1832	DSP	ORPHA:65282
HP:0001072	Thickened skin	2697	GJA1	ORPHA:317
HP:0001072	Thickened skin	2707	GJB3	ORPHA:317
HP:0001072	Thickened skin	2707	GJB3	OMIM:133200
HP:0001072	Thickened skin	2531	KDSR	ORPHA:317
HP:0001072	Thickened skin	127534	GJB4	ORPHA:317
HP:0001072	Thickened skin	10483	SEC23B	ORPHA:201
HP:0001072	Thickened skin	6390	SDHB	ORPHA:201
HP:0001072	Thickened skin	6392	SDHD	ORPHA:201
HP:0001072	Thickened skin	6391	SDHC	ORPHA:201
HP:0001072	Thickened skin	205717	USF3	ORPHA:201
HP:0001072	Thickened skin	5290	PIK3CA	ORPHA:201
HP:0001072	Thickened skin	100144748	KLLN	ORPHA:201
HP:0001072	Thickened skin	10269	ZMPSTE24	ORPHA:1662
HP:0001072	Thickened skin	2517	FUCA1	ORPHA:349
HP:0001072	Thickened skin	242	ALOX12B	OMIM:242100
HP:0001072	Thickened skin	59344	ALOXE3	OMIM:242100
HP:0001072	Thickened skin	6768	ST14	OMIM:602400
HP:0001072	Thickened skin	50814	NSDHL	OMIM:308050
HP:0001072	Thickened skin	10682	EBP	OMIM:302960
HP:0001072	Thickened skin	7051	TGM1	OMIM:242300
HP:0001072	Thickened skin	10804	GJB6	ORPHA:477
HP:0001072	Thickened skin	2706	GJB2	ORPHA:477
HP:0001072	Thickened skin	26154	ABCA12	OMIM:242500
HP:0001072	Thickened skin	26154	ABCA12	ORPHA:457
HP:0001072	Thickened skin	404672	GTF2H5	OMIM:616395
HP:0001072	Thickened skin	412	STS	OMIM:308100
HP:0001072	Thickened skin	362	AQP5	OMIM:600231
HP:0001072	Thickened skin	362	AQP5	ORPHA:2337
HP:0001072	Thickened skin	57152	SLURP1	ORPHA:86923
HP:0001072	Thickened skin	145264	SERPINA12	ORPHA:86923
HP:0001072	Thickened skin	54800	KLHL24	OMIM:617294
HP:0001072	Thickened skin	9342	SNAP29	ORPHA:66631
HP:0001072	Thickened skin	79651	RHBDF2	OMIM:148500
HP:0001072	Thickened skin	2324	FLT4	OMIM:153100
HP:0001072	Thickened skin	3887	KRT81	OMIM:158000
HP:0001072	Thickened skin	3892	KRT86	OMIM:158000
HP:0001072	Thickened skin	3122	HLA-DRA	ORPHA:505
HP:0001072	Thickened skin	3858	KRT10	ORPHA:312
HP:0001072	Thickened skin	3858	KRT10	OMIM:607602
HP:0001072	Thickened skin	3849	KRT2	OMIM:146800
HP:0001072	Thickened skin	126410	CYP4F22	OMIM:604777
HP:0001072	Thickened skin	6820	SULT2B1	OMIM:617571
HP:0001072	Thickened skin	348938	NIPAL4	OMIM:612281
HP:0001072	Thickened skin	2629	GBA1	ORPHA:85212
HP:0001072	Thickened skin	2629	GBA1	OMIM:608013
HP:0001072	Thickened skin	51099	ABHD5	ORPHA:98907
HP:0001072	Thickened skin	51099	ABHD5	OMIM:275630
HP:0001072	Thickened skin	6897	TARS1	OMIM:618546
HP:0001072	Thickened skin	51371	POMP	OMIM:601952
HP:0001072	Thickened skin	2071	ERCC3	OMIM:616390
HP:0001072	Thickened skin	2068	ERCC2	OMIM:601675
HP:0001072	Thickened skin	204219	CERS3	OMIM:615023
HP:0001072	Thickened skin	285848	PNPLA1	OMIM:615024
HP:0001072	Thickened skin	151516	ASPRV1	OMIM:146750
HP:0001072	Thickened skin	6785	ELOVL4	OMIM:614457
HP:0001072	Thickened skin	4014	LORICRIN	ORPHA:79395
HP:0001072	Thickened skin	147409	DSG4	ORPHA:573
HP:0001072	Thickened skin	147409	DSG4	OMIM:607903
HP:0001072	Thickened skin	5351	PLOD1	OMIM:225400
HP:0001072	Thickened skin	55033	FKBP14	ORPHA:300179
HP:0001072	Thickened skin	55033	FKBP14	OMIM:614557
HP:0001072	Thickened skin	4035	LRP1	ORPHA:79100
HP:0001072	Thickened skin	10999	SLC27A4	OMIM:608649
HP:0001072	Thickened skin	9325	TRIP4	OMIM:617066
HP:0001072	Thickened skin	9325	TRIP4	ORPHA:486815
HP:0001072	Thickened skin	4921	DDR2	OMIM:618175
HP:0001072	Thickened skin	5950	RBP4	OMIM:615147
HP:0001072	Thickened skin	1825	DSC3	OMIM:613102
HP:0001072	Thickened skin	26227	PHGDH	ORPHA:79351
HP:0001072	Thickened skin	54345	SOX18	OMIM:137940
HP:0001072	Thickened skin	26276	VPS33B	OMIM:620009
HP:0001072	Thickened skin	5339	PLEC	OMIM:616487
HP:0001072	Thickened skin	3914	LAMB3	OMIM:226650
HP:0001072	Thickened skin	9401	RECQL4	ORPHA:221016
HP:0001072	Thickened skin	286887	KRT6C	OMIM:615735
HP:0001072	Thickened skin	29926	GMPPA	ORPHA:869
HP:0001072	Thickened skin	60684	TRAPPC11	ORPHA:869
HP:0001072	Thickened skin	8086	AAAS	ORPHA:869
HP:0001072	Thickened skin	79650	USB1	OMIM:604173
HP:0001072	Thickened skin	64682	ANAPC1	ORPHA:221008
HP:0001072	Thickened skin	4047	LSS	ORPHA:2850
HP:0001072	Thickened skin	4047	LSS	OMIM:618840
HP:0001072	Thickened skin	197	AHSG	ORPHA:2850
HP:0001072	Thickened skin	3694	ITGB6	ORPHA:2850
HP:0001072	Thickened skin	1120	CHKB	OMIM:602541
HP:0001072	Thickened skin	57104	PNPLA2	ORPHA:565612
HP:0001072	Thickened skin	57104	PNPLA2	OMIM:610717
HP:0001072	Thickened skin	57104	PNPLA2	ORPHA:98908
HP:0001072	Thickened skin	5191	PEX7	OMIM:266500
HP:0001072	Thickened skin	5191	PEX7	OMIM:215100
HP:0001072	Thickened skin	5191	PEX7	OMIM:614879
HP:0001072	Thickened skin	5191	PEX7	ORPHA:773
HP:0001072	Thickened skin	5264	PHYH	OMIM:266500
HP:0001072	Thickened skin	5264	PHYH	ORPHA:773
HP:0001072	Thickened skin	128486	FITM2	OMIM:618635
HP:0001072	Thickened skin	1287	COL4A5	OMIM:301050
HP:0001072	Thickened skin	9837	GINS1	OMIM:617827
HP:0001072	Thickened skin	79631	EFL1	ORPHA:811
HP:0001072	Thickened skin	51119	SBDS	ORPHA:811
HP:0001072	Thickened skin	6729	SRP54	ORPHA:811
HP:0001072	Thickened skin	114548	NLRP3	ORPHA:575
HP:0001072	Thickened skin	54453	RIN2	OMIM:613075
HP:0001072	Thickened skin	4141	MARS1	OMIM:619692
HP:0001072	Thickened skin	29968	PSAT1	ORPHA:284417
HP:0001072	Thickened skin	29968	PSAT1	OMIM:616038
HP:0001072	Thickened skin	5277	PIGA	OMIM:300868
HP:0001072	Thickened skin	5277	PIGA	OMIM:301072
HP:0001072	Thickened skin	146206	CARMIL2	OMIM:618131
HP:0001072	Thickened skin	3560	IL2RB	OMIM:618495
HP:0001072	Thickened skin	2783	GNB2	OMIM:619503
HP:0001072	Thickened skin	63894	VIPAS39	OMIM:613404
HP:0001072	Thickened skin	8879	SGPL1	OMIM:617575
HP:0001072	Thickened skin	91754	NEK9	ORPHA:64754
HP:0001072	Thickened skin	4893	NRAS	OMIM:163200
HP:0001072	Thickened skin	285362	SUMF1	OMIM:272200
HP:0001072	Thickened skin	285362	SUMF1	ORPHA:585
HP:0001072	Thickened skin	10283	CWC27	ORPHA:166035
HP:0001072	Thickened skin	6786	STIM1	OMIM:185070
HP:0001072	Thickened skin	6786	STIM1	ORPHA:3204
HP:0001072	Thickened skin	55670	PEX26	ORPHA:772
HP:0001072	Thickened skin	5824	PEX19	ORPHA:772
HP:0001072	Thickened skin	5828	PEX2	ORPHA:772
HP:0001072	Thickened skin	8504	PEX3	ORPHA:772
HP:0001072	Thickened skin	9409	PEX16	ORPHA:772
HP:0001072	Thickened skin	8799	PEX11B	ORPHA:772
HP:0001072	Thickened skin	5830	PEX5	ORPHA:772
HP:0001072	Thickened skin	5193	PEX12	ORPHA:772
HP:0001072	Thickened skin	5194	PEX13	ORPHA:772
HP:0001072	Thickened skin	5195	PEX14	ORPHA:772
HP:0001072	Thickened skin	5192	PEX10	ORPHA:772
HP:0001072	Thickened skin	415	ARSL	OMIM:302950
HP:0001072	Thickened skin	2961	GTF2E2	OMIM:616943
HP:0001072	Thickened skin	2961	GTF2E2	ORPHA:33364
HP:0001072	Thickened skin	833	CARS1	ORPHA:33364
HP:0001072	Thickened skin	7737	RNF113A	ORPHA:33364
HP:0001072	Thickened skin	136647	MPLKIP	ORPHA:33364
HP:0001072	Thickened skin	64127	NOD2	ORPHA:90340
HP:0001072	Thickened skin	2273	FHL1	ORPHA:98863
HP:0001072	Thickened skin	2010	EMD	ORPHA:98863
HP:0001072	Thickened skin	84876	ORAI1	ORPHA:3204
HP:0001072	Thickened skin	9333	TGM5	ORPHA:263534
HP:0001072	Thickened skin	6595	SMARCA2	OMIM:601358
HP:0001072	Thickened skin	6307	MSMO1	OMIM:616834
HP:0001072	Thickened skin	2260	FGFR1	ORPHA:478
HP:0001072	Thickened skin	10371	SEMA3A	ORPHA:478
HP:0001072	Thickened skin	81848	SPRY4	ORPHA:478
HP:0001072	Thickened skin	23767	FLRT3	ORPHA:478
HP:0001072	Thickened skin	128674	PROKR2	ORPHA:478
HP:0001072	Thickened skin	79625	NDNF	ORPHA:478
HP:0001072	Thickened skin	2253	FGF8	ORPHA:478
HP:0001072	Thickened skin	389549	FEZF1	ORPHA:478
HP:0001072	Thickened skin	1630	DCC	ORPHA:478
HP:0001072	Thickened skin	3730	ANOS1	ORPHA:478
HP:0001072	Thickened skin	54756	IL17RD	ORPHA:478
HP:0001072	Thickened skin	6663	SOX10	ORPHA:478
HP:0001072	Thickened skin	285025	CCDC141	ORPHA:478
HP:0001072	Thickened skin	60675	PROK2	ORPHA:478
HP:0001072	Thickened skin	1848	DUSP6	ORPHA:478
HP:0001072	Thickened skin	6870	TACR3	ORPHA:478
HP:0001072	Thickened skin	55717	WDR11	ORPHA:478
HP:0001072	Thickened skin	9394	HS6ST1	ORPHA:478
HP:0001072	Thickened skin	8820	HESX1	ORPHA:478
HP:0001072	Thickened skin	8822	FGF17	ORPHA:478
HP:0001072	Thickened skin	79188	TMEM43	ORPHA:98853
HP:0001072	Thickened skin	23345	SYNE1	ORPHA:98853
HP:0001072	Thickened skin	23224	SYNE2	ORPHA:98853
HP:0001072	Thickened skin	56916	SMARCAD1	OMIM:136000
HP:0001072	Thickened skin	55906	ZC4H2	OMIM:314580
HP:0001072	Thickened skin	80326	WNT10A	OMIM:150400
HP:0001072	Thickened skin	81607	NECTIN4	OMIM:613573
HP:0001072	Thickened skin	3868	KRT16	ORPHA:2199
HP:0001072	Thickened skin	3868	KRT16	ORPHA:2309
HP:0001072	Thickened skin	3857	KRT9	ORPHA:2199
HP:0001072	Thickened skin	3857	KRT9	OMIM:144200
HP:0001072	Thickened skin	3848	KRT1	ORPHA:2199
HP:0001072	Thickened skin	3852	KRT5	ORPHA:79397
HP:0001072	Thickened skin	3852	KRT5	ORPHA:79399
HP:0001072	Thickened skin	3852	KRT5	ORPHA:79400
HP:0001072	Thickened skin	3861	KRT14	ORPHA:79397
HP:0001072	Thickened skin	3861	KRT14	ORPHA:79399
HP:0001072	Thickened skin	3861	KRT14	ORPHA:79400
HP:0001072	Thickened skin	3853	KRT6A	OMIM:615726
HP:0001072	Thickened skin	3853	KRT6A	ORPHA:2309
HP:0001072	Thickened skin	3872	KRT17	ORPHA:2309
HP:0001072	Thickened skin	3854	KRT6B	ORPHA:2309
HP:0001072	Thickened skin	284654	RSPO1	OMIM:610644
HP:0001072	Thickened skin	1080	CFTR	ORPHA:498359
HP:0001072	Thickened skin	8710	SERPINB7	OMIM:615598
HP:0001072	Thickened skin	1828	DSG1	OMIM:148700
HP:0001072	Thickened skin	2050	EPHB4	ORPHA:90186
HP:0001072	Thickened skin	6720	SREBF1	OMIM:619016
HP:0001072	Thickened skin	3860	KRT13	OMIM:615785
HP:0001072	Thickened skin	126695	KDF1	OMIM:617337
HP:0001072	Thickened skin	79719	AAGAB	OMIM:148600
HP:0001072	Thickened skin	79719	AAGAB	ORPHA:79501
HP:0001072	Thickened skin	7373	COL14A1	ORPHA:79501
HP:0001072	Thickened skin	1410	CRYAB	OMIM:608810
HP:0001072	Thickened skin	7390	UROS	OMIM:263700
HP:0001072	Thickened skin	3930	LBR	OMIM:613471
HP:0001072	Thickened skin	4000	LMNA	OMIM:619793
HP:0001072	Thickened skin	4000	LMNA	ORPHA:363618
HP:0001072	Thickened skin	23592	LEMD3	ORPHA:166119
HP:0001072	Thickened skin	23592	LEMD3	ORPHA:1306
HP:0001072	Thickened skin	55315	SLC29A3	ORPHA:168569
HP:0001072	Thickened skin	5053	PAH	OMIM:261600
HP:0001072	Thickened skin	7389	UROD	OMIM:176100
HP:0001072	Thickened skin	3077	HFE	OMIM:176100
HP:0001072	Thickened skin	7486	WRN	OMIM:277700
HP:0001072	Thickened skin	1188	CLCNKB	ORPHA:358
HP:0001072	Thickened skin	6559	SLC12A3	ORPHA:358
HP:0001072	Thickened skin	3514	IGKC	ORPHA:183675
HP:0001072	Thickened skin	3501	IGHG2	ORPHA:183675
HP:0001072	Thickened skin	488	ATP2A2	OMIM:101900
HP:0001072	Thickened skin	488	ATP2A2	ORPHA:218
HP:0001072	Thickened skin	488	ATP2A2	OMIM:124200
HP:0001072	Thickened skin	5728	PTEN	OMIM:158350
HP:0001072	Thickened skin	5728	PTEN	ORPHA:65285
HP:0001072	Thickened skin	84946	LTV1	OMIM:620199
HP:0001072	Thickened skin	267010	RNU12	OMIM:603116
HP:0001072	Thickened skin	63910	SLC17A9	OMIM:616063
HP:0001072	Thickened skin	63910	SLC17A9	ORPHA:79152
HP:0001072	Thickened skin	2224	FDPS	OMIM:616631
HP:0001072	Thickened skin	2224	FDPS	ORPHA:79152
HP:0001073	Cigarette-paper scars	1281	COL3A1	OMIM:130050
HP:0001073	Cigarette-paper scars	1281	COL3A1	ORPHA:286
HP:0001073	Cigarette-paper scars	1277	COL1A1	ORPHA:287
HP:0001073	Cigarette-paper scars	1289	COL5A1	ORPHA:287
HP:0001073	Cigarette-paper scars	1289	COL5A1	OMIM:130000
HP:0001073	Cigarette-paper scars	1290	COL5A2	ORPHA:287
HP:0001073	Cigarette-paper scars	1290	COL5A2	OMIM:130010
HP:0001073	Cigarette-paper scars	1303	COL12A1	ORPHA:610
HP:0001073	Cigarette-paper scars	1291	COL6A1	ORPHA:610
HP:0001073	Cigarette-paper scars	1292	COL6A2	ORPHA:610
HP:0001073	Cigarette-paper scars	1293	COL6A3	ORPHA:610
HP:0001073	Cigarette-paper scars	1075	CTSC	ORPHA:678
HP:0001073	Cigarette-paper scars	91252	SLC39A13	OMIM:612350
HP:0001074	Atypical nevi in non-sun exposed areas	1019	CDK4	OMIM:609048
HP:0001074	Atypical nevi in non-sun exposed areas	5573	PRKAR1A	ORPHA:1359
HP:0001074	Atypical nevi in non-sun exposed areas	50940	PDE11A	ORPHA:1359
HP:0001074	Atypical nevi in non-sun exposed areas	6794	STK11	OMIM:155600
HP:0001074	Atypical nevi in non-sun exposed areas	673	BRAF	OMIM:155600
HP:0001075	Atrophic scars	1281	COL3A1	OMIM:130050
HP:0001075	Atrophic scars	1281	COL3A1	ORPHA:286
HP:0001075	Atrophic scars	1277	COL1A1	ORPHA:287
HP:0001075	Atrophic scars	1289	COL5A1	ORPHA:287
HP:0001075	Atrophic scars	1289	COL5A1	OMIM:130000
HP:0001075	Atrophic scars	1290	COL5A2	ORPHA:287
HP:0001075	Atrophic scars	1290	COL5A2	OMIM:130010
HP:0001075	Atrophic scars	1303	COL12A1	ORPHA:610
HP:0001075	Atrophic scars	1291	COL6A1	ORPHA:610
HP:0001075	Atrophic scars	1292	COL6A2	ORPHA:610
HP:0001075	Atrophic scars	1293	COL6A3	ORPHA:610
HP:0001075	Atrophic scars	1075	CTSC	ORPHA:678
HP:0001075	Atrophic scars	91252	SLC39A13	OMIM:612350
HP:0001075	Atrophic scars	11285	B4GALT7	ORPHA:75496
HP:0001075	Atrophic scars	11285	B4GALT7	OMIM:130070
HP:0001075	Atrophic scars	5339	PLEC	OMIM:226730
HP:0001075	Atrophic scars	5339	PLEC	ORPHA:158684
HP:0001075	Atrophic scars	3691	ITGB4	OMIM:226730
HP:0001075	Atrophic scars	3691	ITGB4	ORPHA:158684
HP:0001075	Atrophic scars	3691	ITGB4	ORPHA:79402
HP:0001075	Atrophic scars	3861	KRT14	OMIM:131760
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:89838
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:79400
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:79396
HP:0001075	Atrophic scars	3852	KRT5	OMIM:131760
HP:0001075	Atrophic scars	3852	KRT5	ORPHA:79400
HP:0001075	Atrophic scars	3852	KRT5	ORPHA:79396
HP:0001075	Atrophic scars	1278	COL1A2	OMIM:225320
HP:0001075	Atrophic scars	1278	COL1A2	ORPHA:230851
HP:0001075	Atrophic scars	1278	COL1A2	OMIM:617821
HP:0001075	Atrophic scars	4035	LRP1	ORPHA:79100
HP:0001075	Atrophic scars	1308	COL17A1	ORPHA:79406
HP:0001075	Atrophic scars	1308	COL17A1	ORPHA:79402
HP:0001075	Atrophic scars	113189	CHST14	OMIM:601776
HP:0001075	Atrophic scars	113189	CHST14	ORPHA:2953
HP:0001075	Atrophic scars	4312	MMP1	ORPHA:79408
HP:0001075	Atrophic scars	4312	MMP1	OMIM:226600
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79408
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79409
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:226600
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131850
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:89843
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79410
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79411
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:231568
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131750
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131705
HP:0001075	Atrophic scars	715	C1R	OMIM:130080
HP:0001075	Atrophic scars	715	C1R	ORPHA:75392
HP:0001075	Atrophic scars	55033	FKBP14	OMIM:614557
HP:0001075	Atrophic scars	55033	FKBP14	ORPHA:300179
HP:0001075	Atrophic scars	51816	ADA2	OMIM:182410
HP:0001075	Atrophic scars	126792	B3GALT6	ORPHA:536467
HP:0001075	Atrophic scars	126792	B3GALT6	OMIM:615349
HP:0001075	Atrophic scars	716	C1S	ORPHA:75392
HP:0001075	Atrophic scars	165	AEBP1	OMIM:618000
HP:0001075	Atrophic scars	29940	DSE	ORPHA:2953
HP:0001075	Atrophic scars	29940	DSE	OMIM:615539
HP:0001075	Atrophic scars	4088	SMAD3	OMIM:613795
HP:0001075	Atrophic scars	5351	PLOD1	ORPHA:1900
HP:0001075	Atrophic scars	3909	LAMA3	ORPHA:79402
HP:0001075	Atrophic scars	3909	LAMA3	OMIM:226700
HP:0001075	Atrophic scars	3918	LAMC2	ORPHA:79402
HP:0001075	Atrophic scars	3918	LAMC2	OMIM:226700
HP:0001075	Atrophic scars	3914	LAMB3	ORPHA:79402
HP:0001075	Atrophic scars	3914	LAMB3	OMIM:226700
HP:0001075	Atrophic scars	7148	TNXB	OMIM:606408
HP:0001075	Atrophic scars	9509	ADAMTS2	OMIM:225410
HP:0001075	Atrophic scars	146206	CARMIL2	OMIM:618131
HP:0001075	Atrophic scars	667	DST	OMIM:615425
HP:0001076	Glabellar hemangioma	2535	FZD2	OMIM:164745
HP:0001076	Glabellar hemangioma	22800	RRAS2	OMIM:618624
HP:0001076	Glabellar hemangioma	1836	SLC26A2	OMIM:222600
HP:0001076	Glabellar hemangioma	6909	TBX2	OMIM:618223
HP:0011295	EEG with parietal sharp waves	57465	TBC1D24	ORPHA:163727
HP:0011297	Abnormal digit morphology	10617	STAMBP	OMIM:614261
HP:0011297	Abnormal digit morphology	28981	IFT81	OMIM:617895
HP:0011297	Abnormal digit morphology	392255	GDF6	OMIM:617898
HP:0011297	Abnormal digit morphology	5238	PGM3	ORPHA:443811
HP:0011297	Abnormal digit morphology	55733	HHAT	OMIM:600092
HP:0011297	Abnormal digit morphology	4047	LSS	ORPHA:2850
HP:0011297	Abnormal digit morphology	197	AHSG	ORPHA:2850
HP:0011297	Abnormal digit morphology	3694	ITGB6	ORPHA:2850
HP:0011297	Abnormal digit morphology	1836	SLC26A2	ORPHA:56304
HP:0011297	Abnormal digit morphology	1836	SLC26A2	OMIM:226900
HP:0011297	Abnormal digit morphology	1836	SLC26A2	ORPHA:93307
HP:0011297	Abnormal digit morphology	9786	KIAA0586	ORPHA:397715
HP:0011297	Abnormal digit morphology	114803	MYSM1	ORPHA:508542
HP:0011297	Abnormal digit morphology	149775	GNAS-AS1	OMIM:603233
HP:0011297	Abnormal digit morphology	8675	STX16	OMIM:603233
HP:0011297	Abnormal digit morphology	2778	GNAS	OMIM:603233
HP:0011297	Abnormal digit morphology	2778	GNAS	ORPHA:79443
HP:0011297	Abnormal digit morphology	2778	GNAS	ORPHA:79444
HP:0011297	Abnormal digit morphology	2778	GNAS	ORPHA:79445
HP:0011297	Abnormal digit morphology	2778	GNAS	OMIM:612463
HP:0011297	Abnormal digit morphology	2778	GNAS	OMIM:612462
HP:0011297	Abnormal digit morphology	2778	GNAS	ORPHA:2762
HP:0011297	Abnormal digit morphology	2778	GNAS	OMIM:103580
HP:0011297	Abnormal digit morphology	10026	PIGK	OMIM:618879
HP:0011297	Abnormal digit morphology	28960	DCPS	OMIM:616459
HP:0011297	Abnormal digit morphology	57231	SNX14	ORPHA:397709
HP:0011297	Abnormal digit morphology	57231	SNX14	OMIM:616354
HP:0011297	Abnormal digit morphology	1513	CTSK	OMIM:265800
HP:0011297	Abnormal digit morphology	1513	CTSK	ORPHA:763
HP:0011297	Abnormal digit morphology	818	CAMK2G	OMIM:618522
HP:0011297	Abnormal digit morphology	54453	RIN2	OMIM:613075
HP:0011297	Abnormal digit morphology	54453	RIN2	ORPHA:217335
HP:0011297	Abnormal digit morphology	170691	ADAMTS17	OMIM:613195
HP:0011297	Abnormal digit morphology	9469	CHST3	OMIM:143095
HP:0011297	Abnormal digit morphology	9469	CHST3	ORPHA:263463
HP:0011297	Abnormal digit morphology	54567	DLL4	OMIM:616589
HP:0011297	Abnormal digit morphology	54567	DLL4	ORPHA:974
HP:0011297	Abnormal digit morphology	7994	KAT6A	ORPHA:457193
HP:0011297	Abnormal digit morphology	7994	KAT6A	OMIM:616268
HP:0011297	Abnormal digit morphology	84100	ARL6	OMIM:209900
HP:0011297	Abnormal digit morphology	84100	ARL6	OMIM:600151
HP:0011297	Abnormal digit morphology	79140	CCDC28B	OMIM:209900
HP:0011297	Abnormal digit morphology	582	BBS1	OMIM:209900
HP:0011297	Abnormal digit morphology	8036	SHOC2	ORPHA:2701
HP:0011297	Abnormal digit morphology	5500	PPP1CB	ORPHA:2701
HP:0011297	Abnormal digit morphology	63901	FAM111A	OMIM:602361
HP:0011297	Abnormal digit morphology	81794	ADAMTS10	OMIM:277600
HP:0011297	Abnormal digit morphology	81794	ADAMTS10	ORPHA:3449
HP:0011297	Abnormal digit morphology	153241	CEP120	ORPHA:474
HP:0011297	Abnormal digit morphology	51626	DYNC2LI1	ORPHA:474
HP:0011297	Abnormal digit morphology	51626	DYNC2LI1	OMIM:617088
HP:0011297	Abnormal digit morphology	79809	TTC21B	ORPHA:474
HP:0011297	Abnormal digit morphology	79809	TTC21B	OMIM:613819
HP:0011297	Abnormal digit morphology	8493	PPM1D	OMIM:617450
HP:0011297	Abnormal digit morphology	56006	SMG9	OMIM:619995
HP:0011297	Abnormal digit morphology	23126	POGZ	OMIM:616364
HP:0011297	Abnormal digit morphology	27125	AFF4	OMIM:616368
HP:0011297	Abnormal digit morphology	27125	AFF4	ORPHA:444077
HP:0011297	Abnormal digit morphology	1311	COMP	OMIM:177170
HP:0011297	Abnormal digit morphology	1311	COMP	ORPHA:750
HP:0011297	Abnormal digit morphology	1311	COMP	ORPHA:93308
HP:0011297	Abnormal digit morphology	4247	MGAT2	ORPHA:79329
HP:0011297	Abnormal digit morphology	8314	BAP1	OMIM:619762
HP:0011297	Abnormal digit morphology	54928	BPNT2	OMIM:614078
HP:0011297	Abnormal digit morphology	3930	LBR	OMIM:215140
HP:0011297	Abnormal digit morphology	3930	LBR	OMIM:618019
HP:0011297	Abnormal digit morphology	3930	LBR	ORPHA:1426
HP:0011297	Abnormal digit morphology	4488	MSX2	OMIM:604757
HP:0011297	Abnormal digit morphology	5727	PTCH1	ORPHA:377
HP:0011297	Abnormal digit morphology	5727	PTCH1	OMIM:109400
HP:0011297	Abnormal digit morphology	8643	PTCH2	ORPHA:377
HP:0011297	Abnormal digit morphology	51684	SUFU	ORPHA:377
HP:0011297	Abnormal digit morphology	6603	SMARCD2	OMIM:617475
HP:0011297	Abnormal digit morphology	4851	NOTCH1	OMIM:616028
HP:0011297	Abnormal digit morphology	4851	NOTCH1	ORPHA:974
HP:0011297	Abnormal digit morphology	23219	FBXO28	OMIM:619777
HP:0011297	Abnormal digit morphology	51322	WAC	ORPHA:466950
HP:0011297	Abnormal digit morphology	29929	ALG6	ORPHA:79320
HP:0011297	Abnormal digit morphology	79053	ALG8	ORPHA:79325
HP:0011297	Abnormal digit morphology	257	ALX3	OMIM:136760
HP:0011297	Abnormal digit morphology	257	ALX3	ORPHA:391474
HP:0011297	Abnormal digit morphology	2879	GPX4	OMIM:250220
HP:0011297	Abnormal digit morphology	1280	COL2A1	OMIM:132450
HP:0011297	Abnormal digit morphology	1280	COL2A1	OMIM:619248
HP:0011297	Abnormal digit morphology	1280	COL2A1	ORPHA:166011
HP:0011297	Abnormal digit morphology	1280	COL2A1	OMIM:271700
HP:0011297	Abnormal digit morphology	1280	COL2A1	OMIM:151210
HP:0011297	Abnormal digit morphology	1280	COL2A1	OMIM:184250
HP:0011297	Abnormal digit morphology	2623	GATA1	OMIM:190685
HP:0011297	Abnormal digit morphology	176	ACAN	OMIM:612813
HP:0011297	Abnormal digit morphology	176	ACAN	ORPHA:171866
HP:0011297	Abnormal digit morphology	176	ACAN	ORPHA:435804
HP:0011297	Abnormal digit morphology	176	ACAN	OMIM:165800
HP:0011297	Abnormal digit morphology	51114	ZDHHC9	ORPHA:776
HP:0011297	Abnormal digit morphology	65109	UPF3B	ORPHA:776
HP:0011297	Abnormal digit morphology	79068	FTO	OMIM:612938
HP:0011297	Abnormal digit morphology	56975	FAM20C	OMIM:259775
HP:0011297	Abnormal digit morphology	55249	YY1AP1	OMIM:602531
HP:0011297	Abnormal digit morphology	10940	POP1	OMIM:617396
HP:0011297	Abnormal digit morphology	51132	RLIM	OMIM:300978
HP:0011297	Abnormal digit morphology	4141	MARS1	OMIM:619692
HP:0011297	Abnormal digit morphology	1621	DBH	OMIM:223360
HP:0011297	Abnormal digit morphology	54496	PRMT7	OMIM:617157
HP:0011297	Abnormal digit morphology	54496	PRMT7	ORPHA:464288
HP:0011297	Abnormal digit morphology	2316	FLNA	ORPHA:88630
HP:0011297	Abnormal digit morphology	2316	FLNA	OMIM:300244
HP:0011297	Abnormal digit morphology	5077	PAX3	OMIM:148820
HP:0011297	Abnormal digit morphology	10483	SEC23B	ORPHA:201
HP:0011297	Abnormal digit morphology	6390	SDHB	ORPHA:201
HP:0011297	Abnormal digit morphology	6392	SDHD	ORPHA:201
HP:0011297	Abnormal digit morphology	6391	SDHC	ORPHA:201
HP:0011297	Abnormal digit morphology	205717	USF3	ORPHA:201
HP:0011297	Abnormal digit morphology	5290	PIK3CA	ORPHA:201
HP:0011297	Abnormal digit morphology	100144748	KLLN	ORPHA:201
HP:0011297	Abnormal digit morphology	633	BGN	OMIM:300989
HP:0011297	Abnormal digit morphology	633	BGN	OMIM:300106
HP:0011297	Abnormal digit morphology	7403	KDM6A	OMIM:300867
HP:0011297	Abnormal digit morphology	5144	PDE4D	ORPHA:439822
HP:0011297	Abnormal digit morphology	5144	PDE4D	ORPHA:950
HP:0011297	Abnormal digit morphology	5144	PDE4D	OMIM:614613
HP:0011297	Abnormal digit morphology	5144	PDE4D	ORPHA:280651
HP:0011297	Abnormal digit morphology	6023	RMRP	OMIM:607095
HP:0011297	Abnormal digit morphology	5573	PRKAR1A	OMIM:101800
HP:0011297	Abnormal digit morphology	5573	PRKAR1A	ORPHA:950
HP:0011297	Abnormal digit morphology	5573	PRKAR1A	ORPHA:280651
HP:0011297	Abnormal digit morphology	64374	SIL1	ORPHA:559
HP:0011297	Abnormal digit morphology	51763	INPP5K	ORPHA:559
HP:0011297	Abnormal digit morphology	9851	KIAA0753	OMIM:619479
HP:0011297	Abnormal digit morphology	9851	KIAA0753	ORPHA:2754
HP:0011297	Abnormal digit morphology	5530	PPP3CA	OMIM:618265
HP:0011297	Abnormal digit morphology	57514	ARHGAP31	OMIM:100300
HP:0011297	Abnormal digit morphology	57514	ARHGAP31	ORPHA:974
HP:0011297	Abnormal digit morphology	10283	CWC27	OMIM:250410
HP:0011297	Abnormal digit morphology	10283	CWC27	ORPHA:166035
HP:0011297	Abnormal digit morphology	6513	SLC2A1	ORPHA:168577
HP:0011297	Abnormal digit morphology	9060	PAPSS2	OMIM:612847
HP:0011297	Abnormal digit morphology	4796	TONSL	OMIM:271510
HP:0011297	Abnormal digit morphology	4796	TONSL	ORPHA:93357
HP:0011297	Abnormal digit morphology	2131	EXT1	ORPHA:502
HP:0011297	Abnormal digit morphology	8720	MBTPS1	OMIM:618392
HP:0011297	Abnormal digit morphology	2077	ERF	OMIM:617180
HP:0011297	Abnormal digit morphology	5130	PCYT1A	ORPHA:85167
HP:0011297	Abnormal digit morphology	5130	PCYT1A	OMIM:608940
HP:0011297	Abnormal digit morphology	23169	SLC35D1	OMIM:269250
HP:0011297	Abnormal digit morphology	57572	DOCK6	ORPHA:974
HP:0011297	Abnormal digit morphology	285203	EOGT	ORPHA:974
HP:0011297	Abnormal digit morphology	407975	MIR17HG	ORPHA:391646
HP:0011297	Abnormal digit morphology	5295	PIK3R1	ORPHA:3163
HP:0011297	Abnormal digit morphology	51371	POMP	OMIM:618048
HP:0011297	Abnormal digit morphology	57152	SLURP1	OMIM:248300
HP:0011297	Abnormal digit morphology	51594	NBAS	OMIM:614800
HP:0011297	Abnormal digit morphology	4000	LMNA	ORPHA:168796
HP:0011297	Abnormal digit morphology	4000	LMNA	OMIM:610140
HP:0011297	Abnormal digit morphology	9897	WASHC5	ORPHA:7
HP:0011297	Abnormal digit morphology	11011	TLK2	OMIM:618050
HP:0011297	Abnormal digit morphology	51109	RDH11	ORPHA:436245
HP:0011297	Abnormal digit morphology	25886	POC1A	OMIM:614813
HP:0011297	Abnormal digit morphology	4053	LTBP2	OMIM:614819
HP:0011297	Abnormal digit morphology	4053	LTBP2	ORPHA:3449
HP:0011297	Abnormal digit morphology	2690	GHR	ORPHA:633
HP:0011297	Abnormal digit morphology	9131	AIFM1	OMIM:300232
HP:0011297	Abnormal digit morphology	118429	ANTXR2	ORPHA:2176
HP:0011297	Abnormal digit morphology	5447	POR	ORPHA:95699
HP:0011297	Abnormal digit morphology	22858	CILK1	OMIM:612651
HP:0011297	Abnormal digit morphology	26153	KIF26A	OMIM:620156
HP:0011297	Abnormal digit morphology	56992	KIF15	ORPHA:261323
HP:0011297	Abnormal digit morphology	8289	ARID1A	OMIM:614607
HP:0011297	Abnormal digit morphology	4054	LTBP3	ORPHA:969
HP:0011297	Abnormal digit morphology	4054	LTBP3	OMIM:617809
HP:0011297	Abnormal digit morphology	222663	SCUBE3	OMIM:619184
HP:0011297	Abnormal digit morphology	6885	MAP3K7	OMIM:157800
HP:0011297	Abnormal digit morphology	6885	MAP3K7	ORPHA:3238
HP:0011297	Abnormal digit morphology	51021	MRPS16	OMIM:610498
HP:0011297	Abnormal digit morphology	1302	COL11A2	ORPHA:2021
HP:0011297	Abnormal digit morphology	1302	COL11A2	ORPHA:1427
HP:0011297	Abnormal digit morphology	4853	NOTCH2	ORPHA:955
HP:0011297	Abnormal digit morphology	2254	FGF9	ORPHA:3237
HP:0011297	Abnormal digit morphology	55343	SLC35C1	OMIM:266265
HP:0011297	Abnormal digit morphology	9321	TRIP11	OMIM:184260
HP:0011297	Abnormal digit morphology	5159	PDGFRB	OMIM:601812
HP:0011297	Abnormal digit morphology	5139	PDE3A	ORPHA:1276
HP:0011297	Abnormal digit morphology	7048	TGFBR2	OMIM:610168
HP:0011297	Abnormal digit morphology	8195	MKKS	ORPHA:2473
HP:0011297	Abnormal digit morphology	4882	NPR2	ORPHA:40
HP:0011297	Abnormal digit morphology	50945	TBX22	ORPHA:921
HP:0011297	Abnormal digit morphology	585	BBS4	OMIM:615982
HP:0011297	Abnormal digit morphology	129880	BBS5	OMIM:615983
HP:0011297	Abnormal digit morphology	27241	BBS9	OMIM:615986
HP:0011297	Abnormal digit morphology	196528	ARID2	OMIM:617808
HP:0011297	Abnormal digit morphology	55081	IFT57	OMIM:617927
HP:0011297	Abnormal digit morphology	6938	TCF12	ORPHA:35099
HP:0011297	Abnormal digit morphology	6938	TCF12	OMIM:615314
HP:0011297	Abnormal digit morphology	7545	ZIC1	ORPHA:35099
HP:0011297	Abnormal digit morphology	92482	BBIP1	OMIM:615995
HP:0011297	Abnormal digit morphology	54585	LZTFL1	OMIM:615994
HP:0011297	Abnormal digit morphology	5053	PAH	ORPHA:2209
HP:0011297	Abnormal digit morphology	101929726	MYMX	ORPHA:1358
HP:0011297	Abnormal digit morphology	114548	NLRP3	ORPHA:1451
HP:0011297	Abnormal digit morphology	9419	CRIPT	OMIM:615789
HP:0011297	Abnormal digit morphology	9361	LONP1	ORPHA:1458
HP:0011297	Abnormal digit morphology	8092	ALX1	ORPHA:306542
HP:0011297	Abnormal digit morphology	54361	WNT4	ORPHA:247768
HP:0011297	Abnormal digit morphology	55617	TASP1	OMIM:618950
HP:0011297	Abnormal digit morphology	5744	PTHLH	OMIM:613382
HP:0011297	Abnormal digit morphology	113246	C12orf57	OMIM:218340
HP:0011297	Abnormal digit morphology	5331	PLCB3	OMIM:618961
HP:0011297	Abnormal digit morphology	387	RHOA	OMIM:618727
HP:0011297	Abnormal digit morphology	10210	TOPORS	ORPHA:2754
HP:0011297	Abnormal digit morphology	317662	FAM149B1	ORPHA:2754
HP:0011297	Abnormal digit morphology	23404	EXOSC2	OMIM:617763
HP:0011297	Abnormal digit morphology	406932	MIR140	OMIM:618618
HP:0011297	Abnormal digit morphology	25871	NEPRO	OMIM:618853
HP:0011297	Abnormal digit morphology	255758	DYNLT2B	OMIM:617405
HP:0011297	Abnormal digit morphology	5604	MAP2K1	OMIM:163950
HP:0011297	Abnormal digit morphology	50964	SOST	OMIM:269500
HP:0011297	Abnormal digit morphology	84529	CDIN1	OMIM:615631
HP:0011297	Abnormal digit morphology	7681	MKRN3	OMIM:176270
HP:0011297	Abnormal digit morphology	3653	IPW	OMIM:176270
HP:0011297	Abnormal digit morphology	791114	PWRN1	OMIM:176270
HP:0011297	Abnormal digit morphology	100033413	SNORD116-1	OMIM:176270
HP:0011297	Abnormal digit morphology	8924	HERC2	OMIM:176270
HP:0011297	Abnormal digit morphology	145624	PWAR1	OMIM:176270
HP:0011297	Abnormal digit morphology	23742	NPAP1	OMIM:176270
HP:0011297	Abnormal digit morphology	338433	SNORD115-1	OMIM:176270
HP:0011297	Abnormal digit morphology	1723	DHODH	OMIM:263750
HP:0011297	Abnormal digit morphology	4552	MTRR	ORPHA:2169
HP:0011297	Abnormal digit morphology	2192	FBLN1	ORPHA:404451
HP:0011297	Abnormal digit morphology	8913	CACNA1G	OMIM:618087
HP:0011297	Abnormal digit morphology	23389	MED13L	ORPHA:369891
HP:0011297	Abnormal digit morphology	8550	MAPKAPK5	OMIM:619869
HP:0011297	Abnormal digit morphology	79633	FAT4	OMIM:616006
HP:0011297	Abnormal digit morphology	79633	FAT4	ORPHA:314679
HP:0011297	Abnormal digit morphology	29957	SLC25A24	OMIM:612289
HP:0011297	Abnormal digit morphology	4659	PPP1R12A	OMIM:618820
HP:0011297	Abnormal digit morphology	6305	SBF1	OMIM:615284
HP:0011297	Abnormal digit morphology	8642	DCHS1	ORPHA:314679
HP:0011297	Abnormal digit morphology	57688	ZSWIM6	OMIM:603671
HP:0011297	Abnormal digit morphology	79989	IFT56	OMIM:619534
HP:0011297	Abnormal digit morphology	775	CACNA1C	OMIM:618447
HP:0011297	Abnormal digit morphology	8831	SYNGAP1	ORPHA:1942
HP:0011297	Abnormal digit morphology	1173	AP2M1	ORPHA:1942
HP:0011297	Abnormal digit morphology	6323	SCN1A	ORPHA:1942
HP:0011297	Abnormal digit morphology	1106	CHD2	ORPHA:1942
HP:0011297	Abnormal digit morphology	6529	SLC6A1	ORPHA:1942
HP:0011297	Abnormal digit morphology	6910	TBX5	OMIM:142900
HP:0011297	Abnormal digit morphology	3914	LAMB3	OMIM:226700
HP:0011297	Abnormal digit morphology	3909	LAMA3	OMIM:226700
HP:0011297	Abnormal digit morphology	3918	LAMC2	OMIM:226700
HP:0011297	Abnormal digit morphology	54101	RIPK4	OMIM:263650
HP:0011297	Abnormal digit morphology	92935	MARS2	OMIM:616430
HP:0011297	Abnormal digit morphology	146059	CDAN1	OMIM:224120
HP:0011297	Abnormal digit morphology	4038	LRP4	OMIM:212780
HP:0011297	Abnormal digit morphology	54806	AHI1	ORPHA:475
HP:0011297	Abnormal digit morphology	54806	AHI1	ORPHA:220493
HP:0011297	Abnormal digit morphology	200894	ARL13B	ORPHA:475
HP:0011297	Abnormal digit morphology	9731	CEP104	ORPHA:475
HP:0011297	Abnormal digit morphology	23247	KATNIP	ORPHA:475
HP:0011297	Abnormal digit morphology	219854	TMEM218	ORPHA:475
HP:0011297	Abnormal digit morphology	95681	CEP41	ORPHA:475
HP:0011297	Abnormal digit morphology	95681	CEP41	ORPHA:220493
HP:0011297	Abnormal digit morphology	10464	PIBF1	ORPHA:475
HP:0011297	Abnormal digit morphology	23116	TOGARAM1	ORPHA:475
HP:0011297	Abnormal digit morphology	25776	CBY1	ORPHA:475
HP:0011297	Abnormal digit morphology	403	ARL3	ORPHA:475
HP:0011297	Abnormal digit morphology	5626	PROP1	ORPHA:226307
HP:0011297	Abnormal digit morphology	89884	LHX4	ORPHA:226307
HP:0011297	Abnormal digit morphology	8022	LHX3	ORPHA:226307
HP:0011297	Abnormal digit morphology	5449	POU1F1	ORPHA:226307
HP:0011297	Abnormal digit morphology	8820	HESX1	ORPHA:226307
HP:0011297	Abnormal digit morphology	51	ACOX1	ORPHA:2971
HP:0011297	Abnormal digit morphology	7547	ZIC3	OMIM:314390
HP:0011297	Abnormal digit morphology	26154	ABCA12	ORPHA:457
HP:0011297	Abnormal digit morphology	8241	RBM10	ORPHA:2886
HP:0011297	Abnormal digit morphology	51524	TMEM138	ORPHA:2318
HP:0011297	Abnormal digit morphology	23090	ZNF423	ORPHA:2318
HP:0011297	Abnormal digit morphology	5566	PRKACA	ORPHA:289
HP:0011297	Abnormal digit morphology	2313	FLI1	ORPHA:2308
HP:0011297	Abnormal digit morphology	6309	SC5D	ORPHA:46059
HP:0011297	Abnormal digit morphology	6309	SC5D	OMIM:607330
HP:0011297	Abnormal digit morphology	894	CCND2	ORPHA:83473
HP:0011297	Abnormal digit morphology	894	CCND2	OMIM:615938
HP:0011297	Abnormal digit morphology	5296	PIK3R2	ORPHA:83473
HP:0011297	Abnormal digit morphology	10000	AKT3	ORPHA:83473
HP:0011297	Abnormal digit morphology	10000	AKT3	OMIM:615937
HP:0011297	Abnormal digit morphology	56623	INPP5E	OMIM:213300
HP:0011297	Abnormal digit morphology	56623	INPP5E	ORPHA:1454
HP:0011297	Abnormal digit morphology	55593	OTUD5	OMIM:301056
HP:0011297	Abnormal digit morphology	83479	DDX59	OMIM:174300
HP:0011297	Abnormal digit morphology	83479	DDX59	ORPHA:2919
HP:0011297	Abnormal digit morphology	285600	KIAA0825	OMIM:618498
HP:0011297	Abnormal digit morphology	26005	C2CD3	OMIM:615948
HP:0011297	Abnormal digit morphology	26005	C2CD3	ORPHA:434179
HP:0011297	Abnormal digit morphology	26040	SETBP1	OMIM:269150
HP:0011297	Abnormal digit morphology	11020	IFT27	ORPHA:110
HP:0011297	Abnormal digit morphology	49855	SCAPER	ORPHA:110
HP:0011297	Abnormal digit morphology	4867	NPHP1	ORPHA:110
HP:0011297	Abnormal digit morphology	84984	CEP19	ORPHA:110
HP:0011297	Abnormal digit morphology	22954	TRIM32	ORPHA:110
HP:0011297	Abnormal digit morphology	79738	BBS10	ORPHA:110
HP:0011297	Abnormal digit morphology	123016	TTC8	ORPHA:110
HP:0011297	Abnormal digit morphology	583	BBS2	ORPHA:110
HP:0011297	Abnormal digit morphology	583	BBS2	OMIM:615981
HP:0011297	Abnormal digit morphology	166379	BBS12	ORPHA:110
HP:0011297	Abnormal digit morphology	166379	BBS12	OMIM:615989
HP:0011297	Abnormal digit morphology	10806	SDCCAG8	ORPHA:110
HP:0011297	Abnormal digit morphology	157657	CFAP418	ORPHA:110
HP:0011297	Abnormal digit morphology	157657	CFAP418	OMIM:617406
HP:0011297	Abnormal digit morphology	80173	IFT74	ORPHA:110
HP:0011297	Abnormal digit morphology	79005	SCNM1	OMIM:620107
HP:0011297	Abnormal digit morphology	2736	GLI2	OMIM:610829
HP:0011297	Abnormal digit morphology	51360	MBTPS2	OMIM:308205
HP:0011297	Abnormal digit morphology	51360	MBTPS2	ORPHA:85284
HP:0011297	Abnormal digit morphology	80210	ARMC9	OMIM:617622
HP:0011297	Abnormal digit morphology	23288	IQCE	OMIM:617642
HP:0011297	Abnormal digit morphology	137392	CIBAR1	OMIM:618219
HP:0011297	Abnormal digit morphology	7700	ZNF141	OMIM:615226
HP:0011297	Abnormal digit morphology	64132	XYLT2	OMIM:605822
HP:0011297	Abnormal digit morphology	4088	SMAD3	ORPHA:284984
HP:0011297	Abnormal digit morphology	4088	SMAD3	OMIM:613795
HP:0011297	Abnormal digit morphology	4088	SMAD3	ORPHA:91387
HP:0011297	Abnormal digit morphology	875	CBS	ORPHA:394
HP:0011297	Abnormal digit morphology	875	CBS	OMIM:236200
HP:0011297	Abnormal digit morphology	25970	SH2B1	ORPHA:261222
HP:0011297	Abnormal digit morphology	199857	ALG14	OMIM:619036
HP:0011297	Abnormal digit morphology	8925	HERC1	OMIM:617011
HP:0011297	Abnormal digit morphology	8925	HERC1	ORPHA:457359
HP:0011297	Abnormal digit morphology	1075	CTSC	OMIM:245010
HP:0011297	Abnormal digit morphology	1075	CTSC	ORPHA:678
HP:0011297	Abnormal digit morphology	5351	PLOD1	OMIM:225400
HP:0011297	Abnormal digit morphology	8076	MFAP5	OMIM:616166
HP:0011297	Abnormal digit morphology	8076	MFAP5	ORPHA:91387
HP:0011297	Abnormal digit morphology	80816	ASXL3	OMIM:615485
HP:0011297	Abnormal digit morphology	80816	ASXL3	ORPHA:352577
HP:0011297	Abnormal digit morphology	72	ACTG2	ORPHA:2604
HP:0011297	Abnormal digit morphology	30008	EFEMP2	OMIM:614437
HP:0011297	Abnormal digit morphology	79693	YRDC	OMIM:619609
HP:0011297	Abnormal digit morphology	1146	CHRNG	OMIM:265000
HP:0011297	Abnormal digit morphology	284058	KANSL1	ORPHA:363958
HP:0011297	Abnormal digit morphology	284058	KANSL1	ORPHA:363965
HP:0011297	Abnormal digit morphology	1272	CNTN1	OMIM:612540
HP:0011297	Abnormal digit morphology	29920	PYCR2	ORPHA:481152
HP:0011297	Abnormal digit morphology	29920	PYCR2	OMIM:616420
HP:0011297	Abnormal digit morphology	1312	COMT	ORPHA:567
HP:0011297	Abnormal digit morphology	221037	JMJD1C	ORPHA:567
HP:0011297	Abnormal digit morphology	2812	GP1BB	ORPHA:567
HP:0011297	Abnormal digit morphology	6239	RREB1	ORPHA:567
HP:0011297	Abnormal digit morphology	7290	HIRA	ORPHA:567
HP:0011297	Abnormal digit morphology	9632	SEC24C	ORPHA:567
HP:0011297	Abnormal digit morphology	7353	UFD1	ORPHA:567
HP:0011297	Abnormal digit morphology	421	ARVCF	ORPHA:567
HP:0011297	Abnormal digit morphology	444	ASPH	OMIM:601552
HP:0011297	Abnormal digit morphology	79576	NKAP	OMIM:301039
HP:0011297	Abnormal digit morphology	3188	HNRNPH2	OMIM:300986
HP:0011297	Abnormal digit morphology	23152	CIC	OMIM:617600
HP:0011297	Abnormal digit morphology	649	BMP1	OMIM:614856
HP:0011297	Abnormal digit morphology	165	AEBP1	ORPHA:536532
HP:0011297	Abnormal digit morphology	11285	B4GALT7	ORPHA:75496
HP:0011297	Abnormal digit morphology	11285	B4GALT7	OMIM:130070
HP:0011297	Abnormal digit morphology	10526	IPO8	OMIM:619472
HP:0011297	Abnormal digit morphology	10526	IPO8	ORPHA:60030
HP:0011297	Abnormal digit morphology	4534	MTM1	OMIM:310400
HP:0011297	Abnormal digit morphology	5184	PEPD	ORPHA:742
HP:0011297	Abnormal digit morphology	715	C1R	OMIM:130080
HP:0011297	Abnormal digit morphology	60676	PAPPA2	OMIM:619489
HP:0011297	Abnormal digit morphology	1742	DLG4	OMIM:618793
HP:0011297	Abnormal digit morphology	6605	SMARCE1	OMIM:616938
HP:0011297	Abnormal digit morphology	11107	PRDM5	ORPHA:90354
HP:0011297	Abnormal digit morphology	84627	ZNF469	ORPHA:90354
HP:0011297	Abnormal digit morphology	4677	NARS1	OMIM:619092
HP:0011297	Abnormal digit morphology	6651	SON	ORPHA:500150
HP:0011297	Abnormal digit morphology	2193	FARSA	OMIM:619013
HP:0011297	Abnormal digit morphology	4087	SMAD2	OMIM:619656
HP:0011297	Abnormal digit morphology	4087	SMAD2	ORPHA:91387
HP:0011297	Abnormal digit morphology	29893	PSMC3IP	ORPHA:243
HP:0011297	Abnormal digit morphology	171568	POLR3H	ORPHA:243
HP:0011297	Abnormal digit morphology	2516	NR5A1	ORPHA:243
HP:0011297	Abnormal digit morphology	125150	ZSWIM7	ORPHA:243
HP:0011297	Abnormal digit morphology	9210	BMP15	ORPHA:243
HP:0011297	Abnormal digit morphology	23514	SPIDR	ORPHA:243
HP:0011297	Abnormal digit morphology	2492	FSHR	ORPHA:243
HP:0011297	Abnormal digit morphology	56945	MRPS22	ORPHA:243
HP:0011297	Abnormal digit morphology	646	BNC1	ORPHA:243
HP:0011297	Abnormal digit morphology	4883	NPR3	OMIM:619543
HP:0011297	Abnormal digit morphology	7043	TGFB3	OMIM:615582
HP:0011297	Abnormal digit morphology	7043	TGFB3	ORPHA:91387
HP:0011297	Abnormal digit morphology	7046	TGFBR1	ORPHA:60030
HP:0011297	Abnormal digit morphology	7046	TGFBR1	OMIM:609192
HP:0011297	Abnormal digit morphology	7046	TGFBR1	ORPHA:91387
HP:0011297	Abnormal digit morphology	56603	CYP26B1	OMIM:614416
HP:0011297	Abnormal digit morphology	7042	TGFB2	OMIM:614816
HP:0011297	Abnormal digit morphology	7042	TGFB2	ORPHA:91387
HP:0011297	Abnormal digit morphology	4629	MYH11	ORPHA:91387
HP:0011297	Abnormal digit morphology	4015	LOX	ORPHA:91387
HP:0011297	Abnormal digit morphology	59	ACTA2	ORPHA:91387
HP:0011297	Abnormal digit morphology	5592	PRKG1	ORPHA:91387
HP:0011297	Abnormal digit morphology	2301	FOXE3	ORPHA:91387
HP:0011297	Abnormal digit morphology	4144	MAT2A	ORPHA:91387
HP:0011297	Abnormal digit morphology	23493	HEY2	ORPHA:91387
HP:0011297	Abnormal digit morphology	4638	MYLK	ORPHA:91387
HP:0011297	Abnormal digit morphology	1593	CYP27A1	ORPHA:909
HP:0011297	Abnormal digit morphology	23400	ATP13A2	ORPHA:306674
HP:0011297	Abnormal digit morphology	134218	DNAJC21	ORPHA:811
HP:0011297	Abnormal digit morphology	79631	EFL1	ORPHA:811
HP:0011297	Abnormal digit morphology	51119	SBDS	ORPHA:811
HP:0011297	Abnormal digit morphology	6729	SRP54	ORPHA:811
HP:0011297	Abnormal digit morphology	6926	TBX3	ORPHA:3138
HP:0011297	Abnormal digit morphology	2189	FANCG	OMIM:614082
HP:0011297	Abnormal digit morphology	2189	FANCG	ORPHA:84
HP:0011297	Abnormal digit morphology	80207	OPA3	ORPHA:67036
HP:0011297	Abnormal digit morphology	9158	FIBP	ORPHA:500095
HP:0011297	Abnormal digit morphology	9968	MED12	ORPHA:93932
HP:0011297	Abnormal digit morphology	8200	GDF5	ORPHA:2639
HP:0011297	Abnormal digit morphology	658	BMPR1B	ORPHA:2639
HP:0011297	Abnormal digit morphology	672	BRCA1	ORPHA:84
HP:0011297	Abnormal digit morphology	10459	MAD2L2	ORPHA:84
HP:0011297	Abnormal digit morphology	7516	XRCC2	ORPHA:84
HP:0011297	Abnormal digit morphology	29089	UBE2T	ORPHA:84
HP:0011297	Abnormal digit morphology	675	BRCA2	ORPHA:84
HP:0011297	Abnormal digit morphology	55120	FANCL	ORPHA:84
HP:0011297	Abnormal digit morphology	2175	FANCA	ORPHA:84
HP:0011297	Abnormal digit morphology	2187	FANCB	ORPHA:84
HP:0011297	Abnormal digit morphology	2176	FANCC	ORPHA:84
HP:0011297	Abnormal digit morphology	2178	FANCE	ORPHA:84
HP:0011297	Abnormal digit morphology	2188	FANCF	ORPHA:84
HP:0011297	Abnormal digit morphology	5888	RAD51	ORPHA:84
HP:0011297	Abnormal digit morphology	5889	RAD51C	ORPHA:84
HP:0011297	Abnormal digit morphology	55159	RFWD3	ORPHA:84
HP:0011297	Abnormal digit morphology	83990	BRIP1	ORPHA:84
HP:0011297	Abnormal digit morphology	57697	FANCM	ORPHA:84
HP:0011297	Abnormal digit morphology	79728	PALB2	ORPHA:84
HP:0011297	Abnormal digit morphology	84464	SLX4	ORPHA:84
HP:0011297	Abnormal digit morphology	2072	ERCC4	ORPHA:84
HP:0011297	Abnormal digit morphology	55215	FANCI	ORPHA:84
HP:0011297	Abnormal digit morphology	64093	SMOC1	ORPHA:1106
HP:0011297	Abnormal digit morphology	2261	FGFR3	OMIM:620192
HP:0011297	Abnormal digit morphology	2261	FGFR3	ORPHA:2363
HP:0011297	Abnormal digit morphology	23111	SPART	ORPHA:101000
HP:0011297	Abnormal digit morphology	25942	SIN3A	ORPHA:94065
HP:0011297	Abnormal digit morphology	1193	CLIC2	ORPHA:324410
HP:0011297	Abnormal digit morphology	860	RUNX2	ORPHA:1452
HP:0011297	Abnormal digit morphology	2255	FGF10	ORPHA:2363
HP:0011297	Abnormal digit morphology	6469	SHH	ORPHA:93321
HP:0011297	Abnormal digit morphology	57167	SALL4	ORPHA:233
HP:0011297	Abnormal digit morphology	57167	SALL4	ORPHA:959
HP:0011297	Abnormal digit morphology	57167	SALL4	ORPHA:2307
HP:0011297	Abnormal digit morphology	9935	MAFB	ORPHA:233
HP:0011297	Abnormal digit morphology	1123	CHN1	ORPHA:233
HP:0011297	Abnormal digit morphology	2137	EXTL3	ORPHA:508533
HP:0011297	Abnormal digit morphology	22827	PUF60	ORPHA:508498
HP:0011297	Abnormal digit morphology	65250	CPLANE1	OMIM:277170
HP:0011297	Abnormal digit morphology	6608	SMO	OMIM:601707
HP:0011297	Abnormal digit morphology	6608	SMO	ORPHA:1553
HP:0011297	Abnormal digit morphology	4750	NEK1	OMIM:263520
HP:0011297	Abnormal digit morphology	2737	GLI3	OMIM:175700
HP:0011297	Abnormal digit morphology	2737	GLI3	ORPHA:380
HP:0011297	Abnormal digit morphology	2737	GLI3	OMIM:174200
HP:0011297	Abnormal digit morphology	64327	LMBR1	ORPHA:2378
HP:0011297	Abnormal digit morphology	64327	LMBR1	OMIM:174500
HP:0011297	Abnormal digit morphology	55027	HEATR3	OMIM:620072
HP:0011297	Abnormal digit morphology	6299	SALL1	OMIM:107480
HP:0011297	Abnormal digit morphology	6299	SALL1	ORPHA:857
HP:0011297	Abnormal digit morphology	55112	DYNC2I1	ORPHA:93271
HP:0011297	Abnormal digit morphology	57560	IFT80	ORPHA:93271
HP:0011297	Abnormal digit morphology	57539	WDR35	ORPHA:93271
HP:0011297	Abnormal digit morphology	79659	DYNC2H1	ORPHA:93271
HP:0011297	Abnormal digit morphology	89891	DYNC2I2	ORPHA:93271
HP:0011297	Abnormal digit morphology	374879	ZNF699	OMIM:619488
HP:0011297	Abnormal digit morphology	374654	KIF7	OMIM:200990
HP:0011297	Abnormal digit morphology	8318	CDC45	OMIM:617063
HP:0011297	Abnormal digit morphology	51339	DACT1	ORPHA:857
HP:0011297	Abnormal digit morphology	2177	FANCD2	OMIM:227646
HP:0011297	Abnormal digit morphology	727857	BHLHA9	ORPHA:3329
HP:0011297	Abnormal digit morphology	23133	PHF8	ORPHA:85287
HP:0011297	Abnormal digit morphology	8481	OFD1	ORPHA:2750
HP:0011297	Abnormal digit morphology	219844	HYLS1	OMIM:236680
HP:0011297	Abnormal digit morphology	26123	TCTN3	ORPHA:2753
HP:0011297	Abnormal digit morphology	26123	TCTN3	ORPHA:564
HP:0011297	Abnormal digit morphology	2697	GJA1	ORPHA:2710
HP:0011297	Abnormal digit morphology	3239	HOXD13	ORPHA:887
HP:0011297	Abnormal digit morphology	7020	TFAP2A	OMIM:113620
HP:0011297	Abnormal digit morphology	7020	TFAP2A	ORPHA:1297
HP:0011297	Abnormal digit morphology	84314	TMEM107	ORPHA:564
HP:0011297	Abnormal digit morphology	79867	TCTN2	ORPHA:564
HP:0011297	Abnormal digit morphology	80776	B9D2	ORPHA:564
HP:0011297	Abnormal digit morphology	79600	TCTN1	ORPHA:564
HP:0011297	Abnormal digit morphology	57096	RPGRIP1	ORPHA:564
HP:0011297	Abnormal digit morphology	79848	CSPP1	ORPHA:564
HP:0011297	Abnormal digit morphology	80184	CEP290	ORPHA:564
HP:0011297	Abnormal digit morphology	51259	TMEM216	ORPHA:564
HP:0011297	Abnormal digit morphology	57545	CC2D2A	ORPHA:564
HP:0011297	Abnormal digit morphology	79583	TMEM231	ORPHA:564
HP:0011297	Abnormal digit morphology	91147	TMEM67	ORPHA:564
HP:0011297	Abnormal digit morphology	79770	TXNDC15	ORPHA:564
HP:0011297	Abnormal digit morphology	27077	B9D1	ORPHA:564
HP:0011297	Abnormal digit morphology	23322	RPGRIP1L	ORPHA:564
HP:0011297	Abnormal digit morphology	54903	MKS1	ORPHA:564
HP:0011297	Abnormal digit morphology	65062	TMEM237	ORPHA:564
HP:0011297	Abnormal digit morphology	10815	CPLX1	ORPHA:280
HP:0011297	Abnormal digit morphology	10815	CPLX1	OMIM:194190
HP:0011297	Abnormal digit morphology	54872	PIGG	ORPHA:280
HP:0011297	Abnormal digit morphology	7469	NELFA	ORPHA:280
HP:0011297	Abnormal digit morphology	1487	CTBP1	ORPHA:280
HP:0011297	Abnormal digit morphology	1487	CTBP1	OMIM:194190
HP:0011297	Abnormal digit morphology	3954	LETM1	ORPHA:280
HP:0011297	Abnormal digit morphology	3954	LETM1	OMIM:194190
HP:0011297	Abnormal digit morphology	7468	NSD2	ORPHA:280
HP:0011297	Abnormal digit morphology	7468	NSD2	OMIM:194190
HP:0011297	Abnormal digit morphology	2735	GLI1	OMIM:174400
HP:0011297	Abnormal digit morphology	53834	FGFRL1	OMIM:194190
HP:0011297	Abnormal digit morphology	9343	EFTUD2	OMIM:610536
HP:0011297	Abnormal digit morphology	9343	EFTUD2	ORPHA:79113
HP:0011297	Abnormal digit morphology	2263	FGFR2	OMIM:101200
HP:0011297	Abnormal digit morphology	157570	ESCO2	OMIM:268300
HP:0011297	Abnormal digit morphology	64840	PORCN	OMIM:305600
HP:0011297	Abnormal digit morphology	7480	WNT10B	OMIM:225300
HP:0011297	Abnormal digit morphology	7476	WNT7A	OMIM:228930
HP:0011297	Abnormal digit morphology	7476	WNT7A	ORPHA:2879
HP:0011297	Abnormal digit morphology	7476	WNT7A	OMIM:276820
HP:0011297	Abnormal digit morphology	9401	RECQL4	ORPHA:1225
HP:0011297	Abnormal digit morphology	25836	NIPBL	OMIM:122470
HP:0011297	Abnormal digit morphology	6154	RPL26	OMIM:614900
HP:0011297	Abnormal digit morphology	1749	DLX5	OMIM:183600
HP:0011297	Abnormal digit morphology	10262	SF3B4	ORPHA:1788
HP:0011297	Abnormal digit morphology	1802	DPH2	OMIM:620062
HP:0011297	Abnormal digit morphology	91949	COG7	OMIM:608779
HP:0011297	Abnormal digit morphology	91949	COG7	ORPHA:79333
HP:0011297	Abnormal digit morphology	27238	GPKOW	ORPHA:2570
HP:0011297	Abnormal digit morphology	23141	ANKLE2	OMIM:616681
HP:0011297	Abnormal digit morphology	29895	MYL11	OMIM:619110
HP:0011297	Abnormal digit morphology	5393	EXOSC9	OMIM:618065
HP:0011297	Abnormal digit morphology	1861	TOR1A	OMIM:618947
HP:0011297	Abnormal digit morphology	55627	SMPD4	OMIM:618622
HP:0011297	Abnormal digit morphology	6804	STX1A	ORPHA:904
HP:0011297	Abnormal digit morphology	7461	CLIP2	ORPHA:904
HP:0011297	Abnormal digit morphology	84277	DNAJC30	ORPHA:904
HP:0011297	Abnormal digit morphology	8468	FKBP6	ORPHA:904
HP:0011297	Abnormal digit morphology	5982	RFC2	ORPHA:904
HP:0011297	Abnormal digit morphology	2969	GTF2I	ORPHA:904
HP:0011297	Abnormal digit morphology	3984	LIMK1	ORPHA:904
HP:0011297	Abnormal digit morphology	9569	GTF2IRD1	ORPHA:904
HP:0011297	Abnormal digit morphology	155382	VPS37D	ORPHA:904
HP:0011297	Abnormal digit morphology	155368	METTL27	ORPHA:904
HP:0011297	Abnormal digit morphology	114049	BUD23	ORPHA:904
HP:0011297	Abnormal digit morphology	7458	EIF4H	ORPHA:904
HP:0011297	Abnormal digit morphology	84163	GTF2IRD2	ORPHA:904
HP:0011297	Abnormal digit morphology	9275	BCL7B	ORPHA:904
HP:0011297	Abnormal digit morphology	26608	TBL2	ORPHA:904
HP:0011297	Abnormal digit morphology	653361	NCF1	ORPHA:904
HP:0011297	Abnormal digit morphology	135886	TMEM270	ORPHA:904
HP:0011297	Abnormal digit morphology	51085	MLXIPL	ORPHA:904
HP:0011297	Abnormal digit morphology	9031	BAZ1B	ORPHA:904
HP:0011297	Abnormal digit morphology	2006	ELN	ORPHA:904
HP:0011297	Abnormal digit morphology	2006	ELN	ORPHA:90348
HP:0011297	Abnormal digit morphology	5832	ALDH18A1	OMIM:616603
HP:0011297	Abnormal digit morphology	5832	ALDH18A1	OMIM:219150
HP:0011297	Abnormal digit morphology	5832	ALDH18A1	ORPHA:90348
HP:0011297	Abnormal digit morphology	347734	SLC35B2	OMIM:620269
HP:0011297	Abnormal digit morphology	23345	SYNE1	ORPHA:319332
HP:0011297	Abnormal digit morphology	23345	SYNE1	OMIM:618484
HP:0011297	Abnormal digit morphology	1291	COL6A1	ORPHA:75840
HP:0011297	Abnormal digit morphology	1292	COL6A2	ORPHA:75840
HP:0011297	Abnormal digit morphology	1293	COL6A3	ORPHA:75840
HP:0011297	Abnormal digit morphology	9839	ZEB2	ORPHA:261537
HP:0011297	Abnormal digit morphology	9839	ZEB2	ORPHA:261552
HP:0011297	Abnormal digit morphology	215	ABCD1	ORPHA:388
HP:0011297	Abnormal digit morphology	5979	RET	ORPHA:388
HP:0011297	Abnormal digit morphology	2668	GDNF	ORPHA:388
HP:0011297	Abnormal digit morphology	6720	SREBF1	ORPHA:388
HP:0011297	Abnormal digit morphology	1908	EDN3	ORPHA:388
HP:0011297	Abnormal digit morphology	223117	SEMA3D	ORPHA:388
HP:0011297	Abnormal digit morphology	538	ATP7A	ORPHA:388
HP:0011297	Abnormal digit morphology	1910	EDNRB	ORPHA:388
HP:0011297	Abnormal digit morphology	10512	SEMA3C	ORPHA:388
HP:0011297	Abnormal digit morphology	2064	ERBB2	ORPHA:388
HP:0011297	Abnormal digit morphology	2065	ERBB3	ORPHA:388
HP:0011297	Abnormal digit morphology	4902	NRTN	ORPHA:388
HP:0011297	Abnormal digit morphology	10479	SLC9A6	OMIM:300243
HP:0011297	Abnormal digit morphology	10479	SLC9A6	ORPHA:85278
HP:0011297	Abnormal digit morphology	91754	NEK9	OMIM:617022
HP:0011297	Abnormal digit morphology	5649	RELN	ORPHA:89844
HP:0011297	Abnormal digit morphology	54820	NDE1	ORPHA:89844
HP:0011297	Abnormal digit morphology	58	ACTA1	ORPHA:171430
HP:0011297	Abnormal digit morphology	4703	NEB	ORPHA:171430
HP:0011297	Abnormal digit morphology	4703	NEB	OMIM:619334
HP:0011297	Abnormal digit morphology	131377	KLHL40	ORPHA:171430
HP:0011297	Abnormal digit morphology	10324	KLHL41	ORPHA:171430
HP:0011297	Abnormal digit morphology	56203	LMOD3	ORPHA:171430
HP:0011297	Abnormal digit morphology	26227	PHGDH	OMIM:601815
HP:0011297	Abnormal digit morphology	26227	PHGDH	ORPHA:79351
HP:0011297	Abnormal digit morphology	84162	BLTP1	OMIM:617822
HP:0011297	Abnormal digit morphology	202018	TAPT1	OMIM:616897
HP:0011297	Abnormal digit morphology	2201	FBN2	OMIM:121050
HP:0011297	Abnormal digit morphology	91869	RFT1	OMIM:612015
HP:0011297	Abnormal digit morphology	2033	EP300	ORPHA:353284
HP:0011297	Abnormal digit morphology	4621	MYH3	OMIM:618436
HP:0011297	Abnormal digit morphology	4621	MYH3	OMIM:193700
HP:0011297	Abnormal digit morphology	4621	MYH3	ORPHA:1147
HP:0011297	Abnormal digit morphology	4621	MYH3	ORPHA:1146
HP:0011297	Abnormal digit morphology	3897	L1CAM	ORPHA:306617
HP:0011297	Abnormal digit morphology	3897	L1CAM	OMIM:303350
HP:0011297	Abnormal digit morphology	3897	L1CAM	OMIM:307000
HP:0011297	Abnormal digit morphology	3897	L1CAM	ORPHA:2182
HP:0011297	Abnormal digit morphology	388015	RTL1	ORPHA:96334
HP:0011297	Abnormal digit morphology	8788	DLK1	ORPHA:96334
HP:0011297	Abnormal digit morphology	55384	MEG3	ORPHA:96334
HP:0011297	Abnormal digit morphology	2067	ERCC1	OMIM:610758
HP:0011297	Abnormal digit morphology	9179	AP4M1	OMIM:612936
HP:0011297	Abnormal digit morphology	7169	TPM2	OMIM:108120
HP:0011297	Abnormal digit morphology	7169	TPM2	ORPHA:1147
HP:0011297	Abnormal digit morphology	7169	TPM2	ORPHA:1146
HP:0011297	Abnormal digit morphology	126792	B3GALT6	ORPHA:536467
HP:0011297	Abnormal digit morphology	50515	CHST11	OMIM:618167
HP:0011297	Abnormal digit morphology	79868	ALG13	ORPHA:324422
HP:0011297	Abnormal digit morphology	259232	NALCN	OMIM:616266
HP:0011297	Abnormal digit morphology	259232	NALCN	ORPHA:1147
HP:0011297	Abnormal digit morphology	259232	NALCN	ORPHA:1146
HP:0011297	Abnormal digit morphology	23483	TGDS	OMIM:616145
HP:0011297	Abnormal digit morphology	729920	CRPPA	OMIM:614643
HP:0011297	Abnormal digit morphology	7136	TNNI2	ORPHA:1147
HP:0011297	Abnormal digit morphology	7136	TNNI2	ORPHA:1146
HP:0011297	Abnormal digit morphology	10273	STUB1	ORPHA:412057
HP:0011297	Abnormal digit morphology	1387	CREBBP	ORPHA:353277
HP:0011297	Abnormal digit morphology	4604	MYBPC1	ORPHA:1146
HP:0011297	Abnormal digit morphology	10516	FBLN5	ORPHA:90348
HP:0011297	Abnormal digit morphology	57211	ADGRG6	OMIM:616503
HP:0011297	Abnormal digit morphology	9939	RBM8A	ORPHA:3320
HP:0011297	Abnormal digit morphology	9939	RBM8A	OMIM:274000
HP:0011297	Abnormal digit morphology	23299	BICD2	OMIM:618291
HP:0011297	Abnormal digit morphology	10195	ALG3	OMIM:601110
HP:0011297	Abnormal digit morphology	10943	MSL3	OMIM:301032
HP:0011297	Abnormal digit morphology	3977	LIFR	OMIM:601559
HP:0011297	Abnormal digit morphology	9427	ECEL1	OMIM:615065
HP:0011297	Abnormal digit morphology	6999	TDO2	OMIM:600627
HP:0011297	Abnormal digit morphology	84896	ATAD1	OMIM:618011
HP:0011297	Abnormal digit morphology	2036	EPB41L1	OMIM:614257
HP:0011297	Abnormal digit morphology	51002	TPRKB	ORPHA:2065
HP:0011297	Abnormal digit morphology	84942	WDR73	ORPHA:2065
HP:0011297	Abnormal digit morphology	55644	OSGEP	ORPHA:2065
HP:0011297	Abnormal digit morphology	57122	NUP107	ORPHA:2065
HP:0011297	Abnormal digit morphology	10785	WDR4	ORPHA:2065
HP:0011297	Abnormal digit morphology	55746	NUP133	ORPHA:2065
HP:0011297	Abnormal digit morphology	8270	LAGE3	ORPHA:2065
HP:0011297	Abnormal digit morphology	8367	H4C5	OMIM:619950
HP:0011297	Abnormal digit morphology	9853	RUSC2	OMIM:617773
HP:0011297	Abnormal digit morphology	23019	CNOT1	OMIM:619033
HP:0011297	Abnormal digit morphology	26128	KIFBP	OMIM:609460
HP:0011297	Abnormal digit morphology	2972	BRF1	OMIM:616202
HP:0011297	Abnormal digit morphology	2972	BRF1	ORPHA:444072
HP:0011297	Abnormal digit morphology	56916	SMARCAD1	OMIM:129200
HP:0011297	Abnormal digit morphology	56916	SMARCAD1	OMIM:181600
HP:0011297	Abnormal digit morphology	9578	CDC42BPB	OMIM:619841
HP:0011297	Abnormal digit morphology	3020	H3-3A	OMIM:619720
HP:0011297	Abnormal digit morphology	170302	ARX	OMIM:300004
HP:0011297	Abnormal digit morphology	3021	H3-3B	OMIM:619721
HP:0011297	Abnormal digit morphology	10300	KATNB1	OMIM:616212
HP:0011297	Abnormal digit morphology	2624	GATA2	OMIM:614038
HP:0011297	Abnormal digit morphology	55904	KMT2E	OMIM:618512
HP:0011297	Abnormal digit morphology	10978	CLP1	OMIM:615803
HP:0011297	Abnormal digit morphology	55650	PIGV	OMIM:239300
HP:0011297	Abnormal digit morphology	6335	SCN9A	ORPHA:970
HP:0011297	Abnormal digit morphology	65125	WNK1	ORPHA:970
HP:0011297	Abnormal digit morphology	54463	RETREG1	ORPHA:970
HP:0011297	Abnormal digit morphology	547	KIF1A	ORPHA:970
HP:0011297	Abnormal digit morphology	547	KIF1A	ORPHA:2836
HP:0011297	Abnormal digit morphology	6595	SMARCA2	OMIM:619293
HP:0011297	Abnormal digit morphology	80204	FBXO11	OMIM:618089
HP:0011297	Abnormal digit morphology	113189	CHST14	ORPHA:2953
HP:0011297	Abnormal digit morphology	29940	DSE	ORPHA:2953
HP:0011297	Abnormal digit morphology	1889	ECE1	OMIM:613870
HP:0011297	Abnormal digit morphology	9326	ZNHIT3	ORPHA:2836
HP:0011297	Abnormal digit morphology	9326	ZNHIT3	OMIM:260565
HP:0011297	Abnormal digit morphology	2770	GNAI1	OMIM:619854
HP:0011297	Abnormal digit morphology	83550	GPR101	ORPHA:963
HP:0011297	Abnormal digit morphology	9049	AIP	ORPHA:963
HP:0011297	Abnormal digit morphology	157680	VPS13B	OMIM:216550
HP:0011297	Abnormal digit morphology	157680	VPS13B	ORPHA:193
HP:0011297	Abnormal digit morphology	2626	GATA4	ORPHA:251071
HP:0011297	Abnormal digit morphology	84823	LMNB2	OMIM:619180
HP:0011297	Abnormal digit morphology	9896	FIG4	ORPHA:3472
HP:0011297	Abnormal digit morphology	9896	FIG4	OMIM:216340
HP:0011297	Abnormal digit morphology	55697	VAC14	ORPHA:3472
HP:0011297	Abnormal digit morphology	6792	CDKL5	OMIM:300672
HP:0011297	Abnormal digit morphology	7025	NR2F1	ORPHA:401777
HP:0011297	Abnormal digit morphology	7025	NR2F1	OMIM:615722
HP:0011297	Abnormal digit morphology	253738	EBF3	OMIM:617330
HP:0011297	Abnormal digit morphology	55699	IARS2	OMIM:616007
HP:0011297	Abnormal digit morphology	8239	USP9X	ORPHA:480880
HP:0011297	Abnormal digit morphology	8239	USP9X	OMIM:300968
HP:0011297	Abnormal digit morphology	285175	UNC80	OMIM:616801
HP:0011297	Abnormal digit morphology	79753	SNIP1	OMIM:614501
HP:0011297	Abnormal digit morphology	6134	RPL10	ORPHA:459070
HP:0011297	Abnormal digit morphology	6134	RPL10	OMIM:300998
HP:0011297	Abnormal digit morphology	6134	RPL10	ORPHA:435938
HP:0011297	Abnormal digit morphology	1859	DYRK1A	ORPHA:464311
HP:0011297	Abnormal digit morphology	1859	DYRK1A	ORPHA:268261
HP:0011297	Abnormal digit morphology	1303	COL12A1	ORPHA:536516
HP:0011297	Abnormal digit morphology	51611	DPH5	OMIM:620070
HP:0011297	Abnormal digit morphology	79813	EHMT1	ORPHA:261652
HP:0011297	Abnormal digit morphology	58508	KMT2C	ORPHA:261652
HP:0011297	Abnormal digit morphology	4094	MAF	ORPHA:1272
HP:0011297	Abnormal digit morphology	4094	MAF	OMIM:601088
HP:0011297	Abnormal digit morphology	7750	ZMYM2	OMIM:619522
HP:0011297	Abnormal digit morphology	5594	MAPK1	OMIM:619087
HP:0011297	Abnormal digit morphology	4849	CNOT3	OMIM:618672
HP:0011297	Abnormal digit morphology	6942	TCF20	OMIM:618430
HP:0011297	Abnormal digit morphology	81887	LAS1L	ORPHA:3459
HP:0011297	Abnormal digit morphology	81887	LAS1L	OMIM:309585
HP:0011297	Abnormal digit morphology	55869	HDAC8	ORPHA:3459
HP:0011297	Abnormal digit morphology	7140	TNNT3	OMIM:618435
HP:0011297	Abnormal digit morphology	6925	TCF4	OMIM:610954
HP:0011297	Abnormal digit morphology	6925	TCF4	ORPHA:2896
HP:0011297	Abnormal digit morphology	7030	TFE3	OMIM:301066
HP:0011297	Abnormal digit morphology	546	ATRX	OMIM:309580
HP:0011297	Abnormal digit morphology	546	ATRX	OMIM:301040
HP:0011297	Abnormal digit morphology	374969	SVBP	OMIM:618569
HP:0011297	Abnormal digit morphology	84295	PHF6	ORPHA:127
HP:0011297	Abnormal digit morphology	84295	PHF6	OMIM:301900
HP:0011297	Abnormal digit morphology	91252	SLC39A13	ORPHA:157965
HP:0011297	Abnormal digit morphology	91252	SLC39A13	OMIM:612350
HP:0011297	Abnormal digit morphology	171023	ASXL1	OMIM:605039
HP:0011297	Abnormal digit morphology	22907	DHX30	OMIM:617804
HP:0011297	Abnormal digit morphology	9230	RAB11B	OMIM:617807
HP:0011297	Abnormal digit morphology	5277	PIGA	OMIM:301072
HP:0011297	Abnormal digit morphology	389827	MYMK	OMIM:254940
HP:0011297	Abnormal digit morphology	10075	HUWE1	OMIM:309590
HP:0011297	Abnormal digit morphology	9488	PIGB	OMIM:618580
HP:0011297	Abnormal digit morphology	8243	SMC1A	OMIM:301044
HP:0011297	Abnormal digit morphology	23013	SPEN	OMIM:619312
HP:0011297	Abnormal digit morphology	56896	DPYSL5	OMIM:619435
HP:0011297	Abnormal digit morphology	9698	PUM1	OMIM:617931
HP:0011297	Abnormal digit morphology	23028	KDM1A	OMIM:616728
HP:0011297	Abnormal digit morphology	23028	KDM1A	ORPHA:477993
HP:0011297	Abnormal digit morphology	5575	PRKAR1B	OMIM:619680
HP:0011297	Abnormal digit morphology	91179	SCARF2	OMIM:600920
HP:0011297	Abnormal digit morphology	6492	SIM1	ORPHA:171829
HP:0011297	Abnormal digit morphology	2782	GNB1	OMIM:616973
HP:0011297	Abnormal digit morphology	4953	ODC1	ORPHA:544488
HP:0011297	Abnormal digit morphology	998	CDC42	OMIM:616737
HP:0011297	Abnormal digit morphology	998	CDC42	ORPHA:487796
HP:0011297	Abnormal digit morphology	3097	HIVEP2	OMIM:616977
HP:0011297	Abnormal digit morphology	4131	MAP1B	OMIM:618918
HP:0011297	Abnormal digit morphology	56915	EXOSC5	OMIM:619576
HP:0011297	Abnormal digit morphology	10588	MTHFS	OMIM:618367
HP:0011297	Abnormal digit morphology	63035	BCORL1	OMIM:301029
HP:0011297	Abnormal digit morphology	10265	IRX5	OMIM:611174
HP:0011297	Abnormal digit morphology	1108	CHD4	OMIM:617159
HP:0011297	Abnormal digit morphology	91137	SLC25A46	OMIM:616505
HP:0011297	Abnormal digit morphology	8604	SLC25A12	OMIM:612949
HP:0011297	Abnormal digit morphology	7703	PCGF2	OMIM:618371
HP:0011297	Abnormal digit morphology	83696	TRAPPC9	ORPHA:352530
HP:0011297	Abnormal digit morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011297	Abnormal digit morphology	54551	MAGEL2	OMIM:615547
HP:0011297	Abnormal digit morphology	2707	GJB3	ORPHA:317
HP:0011297	Abnormal digit morphology	2531	KDSR	ORPHA:317
HP:0011297	Abnormal digit morphology	127534	GJB4	ORPHA:317
HP:0011297	Abnormal digit morphology	9244	CRLF1	OMIM:272430
HP:0011297	Abnormal digit morphology	8812	CCNK	OMIM:618147
HP:0011297	Abnormal digit morphology	112858	TP53RK	OMIM:617730
HP:0011297	Abnormal digit morphology	80036	TRPM3	OMIM:620224
HP:0011297	Abnormal digit morphology	8936	WASF1	OMIM:618707
HP:0011297	Abnormal digit morphology	8405	SPOP	OMIM:618829
HP:0011297	Abnormal digit morphology	23630	KCNE5	ORPHA:86818
HP:0011297	Abnormal digit morphology	2182	ACSL4	ORPHA:86818
HP:0011297	Abnormal digit morphology	9949	AMMECR1	ORPHA:86818
HP:0011297	Abnormal digit morphology	11198	SUPT16H	OMIM:619480
HP:0011297	Abnormal digit morphology	23556	PIGN	ORPHA:280633
HP:0011297	Abnormal digit morphology	23067	SETD1B	OMIM:619000
HP:0011297	Abnormal digit morphology	23233	EXOC6B	OMIM:618395
HP:0011297	Abnormal digit morphology	5075	PAX1	OMIM:615560
HP:0011297	Abnormal digit morphology	55704	CCDC88A	OMIM:617507
HP:0011297	Abnormal digit morphology	1376	CPT2	OMIM:608836
HP:0011297	Abnormal digit morphology	8242	KDM5C	ORPHA:85279
HP:0011297	Abnormal digit morphology	1315	COPB1	OMIM:619255
HP:0011297	Abnormal digit morphology	51317	PHF21A	OMIM:618725
HP:0011297	Abnormal digit morphology	1968	EIF2S3	ORPHA:85282
HP:0011297	Abnormal digit morphology	5557	PRIM1	OMIM:620005
HP:0011297	Abnormal digit morphology	1795	DOCK3	OMIM:618292
HP:0011297	Abnormal digit morphology	3636	INPPL1	ORPHA:2746
HP:0011297	Abnormal digit morphology	4654	MYOD1	OMIM:618975
HP:0011297	Abnormal digit morphology	11342	RNF13	ORPHA:544503
HP:0011297	Abnormal digit morphology	6197	RPS6KA3	OMIM:303600
HP:0011297	Abnormal digit morphology	9791	PTDSS1	OMIM:151050
HP:0011297	Abnormal digit morphology	2245	FGD1	OMIM:305400
HP:0011297	Abnormal digit morphology	9759	HDAC4	OMIM:619797
HP:0011297	Abnormal digit morphology	3756	KCNH1	OMIM:135500
HP:0011297	Abnormal digit morphology	57479	PRR12	OMIM:619539
HP:0011297	Abnormal digit morphology	6611	SMS	OMIM:309583
HP:0011297	Abnormal digit morphology	673	BRAF	OMIM:115150
HP:0011297	Abnormal digit morphology	91461	PKDCC	OMIM:618821
HP:0011297	Abnormal digit morphology	92344	GORAB	OMIM:231070
HP:0011297	Abnormal digit morphology	54499	TMCO1	OMIM:213980
HP:0011297	Abnormal digit morphology	387733	IFITM5	OMIM:610967
HP:0011297	Abnormal digit morphology	51633	OTUD6B	ORPHA:505237
HP:0011297	Abnormal digit morphology	23114	NFASC	OMIM:618356
HP:0011297	Abnormal digit morphology	1289	COL5A1	OMIM:130000
HP:0011297	Abnormal digit morphology	1278	COL1A2	OMIM:617821
HP:0011297	Abnormal digit morphology	427	ASAH1	OMIM:228000
HP:0011297	Abnormal digit morphology	9373	PLAA	ORPHA:521426
HP:0011297	Abnormal digit morphology	2783	GNB2	OMIM:619503
HP:0011297	Abnormal digit morphology	3265	HRAS	OMIM:218040
HP:0011297	Abnormal digit morphology	2200	FBN1	OMIM:616914
HP:0011297	Abnormal digit morphology	121340	SP7	OMIM:613849
HP:0011297	Abnormal digit morphology	3782	KCNN3	OMIM:618658
HP:0011297	Abnormal digit morphology	5063	PAK3	OMIM:300558
HP:0011297	Abnormal digit morphology	6228	RPS23	OMIM:617412
HP:0011297	Abnormal digit morphology	79718	TBL1XR1	OMIM:602342
HP:0011297	Abnormal digit morphology	79718	TBL1XR1	ORPHA:487825
HP:0011297	Abnormal digit morphology	23065	EMC1	ORPHA:480898
HP:0011297	Abnormal digit morphology	23065	EMC1	OMIM:616875
HP:0011297	Abnormal digit morphology	1105	CHD1	OMIM:617682
HP:0011297	Abnormal digit morphology	94	ACVRL1	OMIM:600376
HP:0011297	Abnormal digit morphology	6340	SCNN1G	ORPHA:60033
HP:0011297	Abnormal digit morphology	1080	CFTR	ORPHA:60033
HP:0011297	Abnormal digit morphology	6337	SCNN1A	ORPHA:60033
HP:0011297	Abnormal digit morphology	6338	SCNN1B	ORPHA:60033
HP:0011297	Abnormal digit morphology	3123	HLA-DRB1	ORPHA:747
HP:0011297	Abnormal digit morphology	3123	HLA-DRB1	OMIM:181000
HP:0011297	Abnormal digit morphology	65082	VPS33A	OMIM:617303
HP:0011297	Abnormal digit morphology	6440	SFTPC	OMIM:610913
HP:0011297	Abnormal digit morphology	6439	SFTPB	OMIM:265120
HP:0011297	Abnormal digit morphology	2022	ENG	OMIM:187300
HP:0011297	Abnormal digit morphology	653509	SFTPA1	OMIM:619611
HP:0011297	Abnormal digit morphology	6578	SLCO2A1	OMIM:614441
HP:0011297	Abnormal digit morphology	738	VPS51	OMIM:618606
HP:0011297	Abnormal digit morphology	56244	BTNL2	OMIM:612387
HP:0011297	Abnormal digit morphology	3572	IL6ST	OMIM:618523
HP:0011297	Abnormal digit morphology	6794	STK11	OMIM:175200
HP:0011297	Abnormal digit morphology	404672	GTF2H5	ORPHA:33364
HP:0011297	Abnormal digit morphology	833	CARS1	ORPHA:33364
HP:0011297	Abnormal digit morphology	7737	RNF113A	ORPHA:33364
HP:0011297	Abnormal digit morphology	136647	MPLKIP	ORPHA:33364
HP:0011297	Abnormal digit morphology	6897	TARS1	ORPHA:33364
HP:0011297	Abnormal digit morphology	2071	ERCC3	ORPHA:33364
HP:0011297	Abnormal digit morphology	2961	GTF2E2	ORPHA:33364
HP:0011297	Abnormal digit morphology	21	ABCA3	OMIM:610921
HP:0011297	Abnormal digit morphology	3858	KRT10	OMIM:609165
HP:0011297	Abnormal digit morphology	25981	DNAH1	ORPHA:244
HP:0011297	Abnormal digit morphology	115948	ODAD3	ORPHA:244
HP:0011297	Abnormal digit morphology	54768	HYDIN	ORPHA:244
HP:0011297	Abnormal digit morphology	352909	DNAAF3	ORPHA:244
HP:0011297	Abnormal digit morphology	27148	STK36	ORPHA:244
HP:0011297	Abnormal digit morphology	51314	NME8	ORPHA:244
HP:0011297	Abnormal digit morphology	92749	DRC1	ORPHA:244
HP:0011297	Abnormal digit morphology	54970	TTC12	ORPHA:244
HP:0011297	Abnormal digit morphology	152110	NEK10	ORPHA:244
HP:0011297	Abnormal digit morphology	2302	FOXJ1	ORPHA:244
HP:0011297	Abnormal digit morphology	221421	RSPH9	ORPHA:244
HP:0011297	Abnormal digit morphology	85478	CCDC65	ORPHA:244
HP:0011297	Abnormal digit morphology	55036	CCDC40	ORPHA:244
HP:0011297	Abnormal digit morphology	51364	ZMYND10	ORPHA:244
HP:0011297	Abnormal digit morphology	64446	DNAI2	ORPHA:244
HP:0011297	Abnormal digit morphology	6674	SPAG1	ORPHA:244
HP:0011297	Abnormal digit morphology	83544	DNAL1	ORPHA:244
HP:0011297	Abnormal digit morphology	89765	RSPH1	ORPHA:244
HP:0011297	Abnormal digit morphology	83538	ODAD4	ORPHA:244
HP:0011297	Abnormal digit morphology	200373	CFAP221	ORPHA:244
HP:0011297	Abnormal digit morphology	374407	DNAJB13	ORPHA:244
HP:0011297	Abnormal digit morphology	55172	DNAAF2	ORPHA:244
HP:0011297	Abnormal digit morphology	161582	DNAAF4	ORPHA:244
HP:0011297	Abnormal digit morphology	2622	GAS8	ORPHA:244
HP:0011297	Abnormal digit morphology	23639	DNAAF11	ORPHA:244
HP:0011297	Abnormal digit morphology	27019	DNAI1	ORPHA:244
HP:0011297	Abnormal digit morphology	345895	RSPH4A	ORPHA:244
HP:0011297	Abnormal digit morphology	54919	DNAAF5	ORPHA:244
HP:0011297	Abnormal digit morphology	6103	RPGR	ORPHA:244
HP:0011297	Abnormal digit morphology	388389	CCDC103	ORPHA:244
HP:0011297	Abnormal digit morphology	93233	ODAD1	ORPHA:244
HP:0011297	Abnormal digit morphology	55130	ODAD2	ORPHA:244
HP:0011297	Abnormal digit morphology	1767	DNAH5	ORPHA:244
HP:0011297	Abnormal digit morphology	83861	RSPH3	ORPHA:244
HP:0011297	Abnormal digit morphology	345643	MCIDAS	ORPHA:244
HP:0011297	Abnormal digit morphology	56683	CFAP298	ORPHA:244
HP:0011297	Abnormal digit morphology	79925	SPEF2	ORPHA:244
HP:0011297	Abnormal digit morphology	10309	CCNO	ORPHA:244
HP:0011297	Abnormal digit morphology	115399	LRRC56	ORPHA:244
HP:0011297	Abnormal digit morphology	139212	DNAAF6	ORPHA:244
HP:0011297	Abnormal digit morphology	123872	DNAAF1	ORPHA:244
HP:0011297	Abnormal digit morphology	85016	CFAP300	ORPHA:244
HP:0011297	Abnormal digit morphology	339829	CCDC39	ORPHA:244
HP:0011297	Abnormal digit morphology	8701	DNAH11	ORPHA:244
HP:0011297	Abnormal digit morphology	1770	DNAH9	ORPHA:244
HP:0011297	Abnormal digit morphology	246176	GAS2L2	ORPHA:244
HP:0011297	Abnormal digit morphology	1604	CD55	OMIM:226300
HP:0011297	Abnormal digit morphology	10892	MALT1	OMIM:615468
HP:0011297	Abnormal digit morphology	7317	UBA1	ORPHA:1145
HP:0011297	Abnormal digit morphology	3868	KRT16	ORPHA:2199
HP:0011297	Abnormal digit morphology	3857	KRT9	ORPHA:2199
HP:0011297	Abnormal digit morphology	3848	KRT1	ORPHA:2199
HP:0011297	Abnormal digit morphology	3861	KRT14	ORPHA:69087
HP:0011297	Abnormal digit morphology	1001	CDH3	OMIM:225280
HP:0011297	Abnormal digit morphology	79796	ALG9	ORPHA:79328
HP:0011297	Abnormal digit morphology	3955	LFNG	OMIM:609813
HP:0011297	Abnormal digit morphology	10525	HYOU1	OMIM:233600
HP:0011297	Abnormal digit morphology	4810	NHS	OMIM:302350
HP:0011297	Abnormal digit morphology	1499	CTNNB1	OMIM:615075
HP:0011297	Abnormal digit morphology	9181	ARHGEF2	OMIM:617523
HP:0011297	Abnormal digit morphology	3248	HPGD	ORPHA:217059
HP:0011297	Abnormal digit morphology	5593	PRKG2	OMIM:619636
HP:0011297	Abnormal digit morphology	3736	KCNA1	ORPHA:1934
HP:0011297	Abnormal digit morphology	9091	PIGQ	ORPHA:1934
HP:0011297	Abnormal digit morphology	2775	GNAO1	ORPHA:1934
HP:0011297	Abnormal digit morphology	81603	TRIM8	ORPHA:1934
HP:0011297	Abnormal digit morphology	2902	GRIN1	ORPHA:1934
HP:0011297	Abnormal digit morphology	79751	SLC25A22	ORPHA:1934
HP:0011297	Abnormal digit morphology	150094	SIK1	ORPHA:1934
HP:0011297	Abnormal digit morphology	8573	CASK	ORPHA:1934
HP:0011297	Abnormal digit morphology	23312	DMXL2	ORPHA:1934
HP:0011297	Abnormal digit morphology	2917	GRM7	ORPHA:1934
HP:0011297	Abnormal digit morphology	11284	PNKP	ORPHA:1934
HP:0011297	Abnormal digit morphology	6326	SCN2A	ORPHA:1934
HP:0011297	Abnormal digit morphology	51227	PIGP	ORPHA:1934
HP:0011297	Abnormal digit morphology	6324	SCN1B	ORPHA:1934
HP:0011297	Abnormal digit morphology	4761	NEUROD2	ORPHA:1934
HP:0011297	Abnormal digit morphology	65260	COA7	OMIM:618387
HP:0011297	Abnormal digit morphology	5376	PMP22	OMIM:118300
HP:0011297	Abnormal digit morphology	5376	PMP22	OMIM:118220
HP:0011297	Abnormal digit morphology	5376	PMP22	OMIM:180800
HP:0011297	Abnormal digit morphology	5376	PMP22	ORPHA:90658
HP:0011297	Abnormal digit morphology	5376	PMP22	OMIM:145900
HP:0011297	Abnormal digit morphology	127833	SYT2	OMIM:616040
HP:0011297	Abnormal digit morphology	112	ADCY6	OMIM:616287
HP:0011297	Abnormal digit morphology	7415	VCP	ORPHA:435387
HP:0011297	Abnormal digit morphology	7415	VCP	OMIM:616687
HP:0011297	Abnormal digit morphology	9927	MFN2	OMIM:609260
HP:0011297	Abnormal digit morphology	50717	DCAF8	OMIM:610100
HP:0011297	Abnormal digit morphology	4897	NRCAM	OMIM:619833
HP:0011297	Abnormal digit morphology	2617	GARS1	ORPHA:139536
HP:0011297	Abnormal digit morphology	2617	GARS1	OMIM:600794
HP:0011297	Abnormal digit morphology	2617	GARS1	OMIM:601472
HP:0011297	Abnormal digit morphology	26580	BSCL2	ORPHA:139536
HP:0011297	Abnormal digit morphology	65055	REEP1	ORPHA:139536
HP:0011297	Abnormal digit morphology	4359	MPZ	OMIM:180800
HP:0011297	Abnormal digit morphology	4359	MPZ	OMIM:118200
HP:0011297	Abnormal digit morphology	4359	MPZ	OMIM:145900
HP:0011297	Abnormal digit morphology	7879	RAB7A	OMIM:600882
HP:0011297	Abnormal digit morphology	10397	NDRG1	OMIM:601455
HP:0011297	Abnormal digit morphology	10397	NDRG1	ORPHA:99950
HP:0011297	Abnormal digit morphology	5375	PMP2	OMIM:618279
HP:0011297	Abnormal digit morphology	23095	KIF1B	OMIM:118210
HP:0011297	Abnormal digit morphology	8566	PDXK	OMIM:618511
HP:0011297	Abnormal digit morphology	400916	CHCHD10	OMIM:615048
HP:0011297	Abnormal digit morphology	3035	HARS1	ORPHA:488333
HP:0011297	Abnormal digit morphology	3035	HARS1	OMIM:616625
HP:0011297	Abnormal digit morphology	90678	LRSAM1	OMIM:614436
HP:0011297	Abnormal digit morphology	11261	CHP1	OMIM:618438
HP:0011297	Abnormal digit morphology	3710	ITPR3	OMIM:620111
HP:0011297	Abnormal digit morphology	81846	SBF2	OMIM:604563
HP:0011297	Abnormal digit morphology	10280	SIGMAR1	OMIM:605726
HP:0011297	Abnormal digit morphology	5264	PHYH	ORPHA:773
HP:0011297	Abnormal digit morphology	5191	PEX7	ORPHA:773
HP:0011297	Abnormal digit morphology	4358	MPV17	OMIM:618400
HP:0011297	Abnormal digit morphology	57449	PLEKHG5	OMIM:615376
HP:0011297	Abnormal digit morphology	3295	HSD17B4	OMIM:261515
HP:0011297	Abnormal digit morphology	79628	SH3TC2	OMIM:601596
HP:0011297	Abnormal digit morphology	79628	SH3TC2	ORPHA:99949
HP:0011297	Abnormal digit morphology	59345	GNB4	OMIM:615185
HP:0011297	Abnormal digit morphology	64423	INF2	OMIM:614455
HP:0011297	Abnormal digit morphology	16	AARS1	OMIM:613287
HP:0011297	Abnormal digit morphology	1959	EGR2	OMIM:145900
HP:0011297	Abnormal digit morphology	57716	PRX	OMIM:145900
HP:0011297	Abnormal digit morphology	168667	BMPER	OMIM:608022
HP:0011297	Abnormal digit morphology	8729	GBF1	OMIM:606483
HP:0011297	Abnormal digit morphology	28957	MRPS28	OMIM:618958
HP:0011297	Abnormal digit morphology	25923	ATL3	OMIM:615632
HP:0011297	Abnormal digit morphology	6567	SLC16A2	OMIM:300523
HP:0011297	Abnormal digit morphology	2629	GBA1	ORPHA:2072
HP:0011297	Abnormal digit morphology	6736	SRY	ORPHA:1772
HP:0011297	Abnormal digit morphology	27031	NPHP3	OMIM:267010
HP:0011297	Abnormal digit morphology	242	ALOX12B	OMIM:242100
HP:0011297	Abnormal digit morphology	59344	ALOXE3	OMIM:242100
HP:0011297	Abnormal digit morphology	5896	RAG1	ORPHA:39041
HP:0011297	Abnormal digit morphology	5897	RAG2	ORPHA:39041
HP:0011297	Abnormal digit morphology	64421	DCLRE1C	ORPHA:39041
HP:0011297	Abnormal digit morphology	100	ADA	ORPHA:39041
HP:0011297	Abnormal digit morphology	3575	IL7R	ORPHA:39041
HP:0011297	Abnormal digit morphology	3561	IL2RG	ORPHA:39041
HP:0011297	Abnormal digit morphology	3039	HBA1	ORPHA:98791
HP:0011297	Abnormal digit morphology	3040	HBA2	ORPHA:98791
HP:0011297	Abnormal digit morphology	118987	PDZD8	OMIM:620021
HP:0011297	Abnormal digit morphology	79228	THOC6	ORPHA:363444
HP:0011297	Abnormal digit morphology	6647	SOD1	OMIM:618598
HP:0011297	Abnormal digit morphology	6536	SLC6A9	OMIM:617301
HP:0011297	Abnormal digit morphology	54916	TMEM260	OMIM:617478
HP:0011297	Abnormal digit morphology	26173	INTS1	OMIM:618571
HP:0011297	Abnormal digit morphology	55656	INTS8	OMIM:618572
HP:0011297	Abnormal digit morphology	529	ATP6V1E1	OMIM:617402
HP:0011297	Abnormal digit morphology	8813	DPM1	ORPHA:79322
HP:0011297	Abnormal digit morphology	8425	LTBP4	OMIM:613177
HP:0011297	Abnormal digit morphology	1349	COX7B	OMIM:300887
HP:0011297	Abnormal digit morphology	2590	GALNT2	OMIM:618885
HP:0011297	Abnormal digit morphology	6049	RNF6	ORPHA:99977
HP:0011297	Abnormal digit morphology	51741	WWOX	ORPHA:99977
HP:0011297	Abnormal digit morphology	9940	DLEC1	ORPHA:99977
HP:0011297	Abnormal digit morphology	2643	GCH1	ORPHA:98808
HP:0011297	Abnormal digit morphology	4929	NR4A2	ORPHA:98808
HP:0011297	Abnormal digit morphology	3615	IMPDH2	ORPHA:98808
HP:0011297	Abnormal digit morphology	3315	HSPB1	OMIM:608634
HP:0011297	Abnormal digit morphology	26353	HSPB8	OMIM:158590
HP:0011297	Abnormal digit morphology	340533	NEXMIF	OMIM:300912
HP:0011297	Abnormal digit morphology	1139	CHRNA7	ORPHA:199318
HP:0011297	Abnormal digit morphology	1139	CHRNA7	OMIM:612001
HP:0011297	Abnormal digit morphology	2132	EXT2	OMIM:616682
HP:0011297	Abnormal digit morphology	23135	KDM6B	OMIM:618505
HP:0011297	Abnormal digit morphology	6659	SOX4	OMIM:618506
HP:0011297	Abnormal digit morphology	1947	EFNB1	ORPHA:1520
HP:0011297	Abnormal digit morphology	1947	EFNB1	OMIM:304110
HP:0011297	Abnormal digit morphology	4010	LMX1B	ORPHA:2614
HP:0011297	Abnormal digit morphology	4010	LMX1B	OMIM:161200
HP:0011297	Abnormal digit morphology	10054	UBA2	OMIM:619959
HP:0011297	Abnormal digit morphology	51126	NAA20	OMIM:619717
HP:0011297	Abnormal digit morphology	9820	CUL7	ORPHA:2616
HP:0011297	Abnormal digit morphology	9820	CUL7	OMIM:273750
HP:0011297	Abnormal digit morphology	23363	OBSL1	ORPHA:2616
HP:0011297	Abnormal digit morphology	83987	CCDC8	ORPHA:2616
HP:0011297	Abnormal digit morphology	83987	CCDC8	OMIM:614205
HP:0011297	Abnormal digit morphology	7021	TFAP2B	OMIM:169100
HP:0011297	Abnormal digit morphology	7021	TFAP2B	ORPHA:46627
HP:0011297	Abnormal digit morphology	7021	TFAP2B	OMIM:617035
HP:0011297	Abnormal digit morphology	3481	IGF2	ORPHA:231140
HP:0011297	Abnormal digit morphology	3481	IGF2	ORPHA:231144
HP:0011297	Abnormal digit morphology	3481	IGF2	OMIM:616489
HP:0011297	Abnormal digit morphology	3481	IGF2	OMIM:180860
HP:0011297	Abnormal digit morphology	3481	IGF2	ORPHA:397590
HP:0011297	Abnormal digit morphology	283120	H19	ORPHA:231140
HP:0011297	Abnormal digit morphology	283120	H19	ORPHA:231144
HP:0011297	Abnormal digit morphology	197131	UBR1	OMIM:243800
HP:0011297	Abnormal digit morphology	4286	MITF	OMIM:617306
HP:0011297	Abnormal digit morphology	23384	SPECC1L	ORPHA:1519
HP:0011297	Abnormal digit morphology	51098	IFT52	ORPHA:1515
HP:0011297	Abnormal digit morphology	55764	IFT122	ORPHA:1515
HP:0011297	Abnormal digit morphology	57728	WDR19	ORPHA:1515
HP:0011297	Abnormal digit morphology	55636	CHD7	ORPHA:138
HP:0011297	Abnormal digit morphology	9723	SEMA3E	ORPHA:138
HP:0011297	Abnormal digit morphology	90	ACVR1	OMIM:135100
HP:0011297	Abnormal digit morphology	90	ACVR1	ORPHA:337
HP:0011297	Abnormal digit morphology	3190	HNRNPK	OMIM:616580
HP:0011297	Abnormal digit morphology	10606	PAICS	OMIM:619859
HP:0011297	Abnormal digit morphology	1009	CDH11	OMIM:619736
HP:0011297	Abnormal digit morphology	64359	NXN	ORPHA:1507
HP:0011297	Abnormal digit morphology	4920	ROR2	ORPHA:1507
HP:0011297	Abnormal digit morphology	652	BMP4	OMIM:607932
HP:0011297	Abnormal digit morphology	1301	COL11A1	OMIM:228520
HP:0011297	Abnormal digit morphology	1301	COL11A1	OMIM:154780
HP:0011297	Abnormal digit morphology	7291	TWIST1	OMIM:101400
HP:0011297	Abnormal digit morphology	7291	TWIST1	ORPHA:794
HP:0011297	Abnormal digit morphology	3981	LIG4	ORPHA:235
HP:0011297	Abnormal digit morphology	3981	LIG4	ORPHA:99812
HP:0011297	Abnormal digit morphology	3981	LIG4	OMIM:606593
HP:0011297	Abnormal digit morphology	1182	CLCN3	OMIM:619512
HP:0011297	Abnormal digit morphology	85301	COL27A1	OMIM:615155
HP:0011297	Abnormal digit morphology	5048	PAFAH1B1	ORPHA:217385
HP:0011297	Abnormal digit morphology	5048	PAFAH1B1	ORPHA:531
HP:0011297	Abnormal digit morphology	7531	YWHAE	ORPHA:217385
HP:0011297	Abnormal digit morphology	7531	YWHAE	ORPHA:531
HP:0011297	Abnormal digit morphology	2121	EVC	OMIM:193530
HP:0011297	Abnormal digit morphology	2121	EVC	ORPHA:952
HP:0011297	Abnormal digit morphology	132884	EVC2	OMIM:193530
HP:0011297	Abnormal digit morphology	132884	EVC2	ORPHA:952
HP:0011297	Abnormal digit morphology	8364	H4C3	OMIM:619758
HP:0011297	Abnormal digit morphology	5590	PRKCZ	ORPHA:1606
HP:0011297	Abnormal digit morphology	2563	GABRD	ORPHA:1606
HP:0011297	Abnormal digit morphology	8510	MMP23B	ORPHA:1606
HP:0011297	Abnormal digit morphology	7798	LUZP1	ORPHA:1606
HP:0011297	Abnormal digit morphology	6497	SKI	ORPHA:1606
HP:0011297	Abnormal digit morphology	10630	PDPN	ORPHA:1606
HP:0011297	Abnormal digit morphology	3339	HSPG2	ORPHA:1606
HP:0011297	Abnormal digit morphology	10277	UBE4B	ORPHA:1606
HP:0011297	Abnormal digit morphology	8514	KCNAB2	ORPHA:1606
HP:0011297	Abnormal digit morphology	473	RERE	ORPHA:1606
HP:0011297	Abnormal digit morphology	473	RERE	OMIM:616975
HP:0011297	Abnormal digit morphology	63976	PRDM16	ORPHA:1606
HP:0011297	Abnormal digit morphology	54897	CASZ1	ORPHA:1606
HP:0011297	Abnormal digit morphology	641	BLM	OMIM:210900
HP:0011297	Abnormal digit morphology	57492	ARID1B	ORPHA:251056
HP:0011297	Abnormal digit morphology	57492	ARID1B	OMIM:135900
HP:0011297	Abnormal digit morphology	63895	PIEZO2	ORPHA:376
HP:0011297	Abnormal digit morphology	23314	SATB2	ORPHA:576283
HP:0011297	Abnormal digit morphology	23314	SATB2	ORPHA:251028
HP:0011297	Abnormal digit morphology	23314	SATB2	ORPHA:251019
HP:0011297	Abnormal digit morphology	2239	GPC4	ORPHA:373
HP:0011297	Abnormal digit morphology	2239	GPC4	ORPHA:2662
HP:0011297	Abnormal digit morphology	2719	GPC3	ORPHA:373
HP:0011297	Abnormal digit morphology	23162	MAPK8IP3	OMIM:618443
HP:0011297	Abnormal digit morphology	2317	FLNB	OMIM:272460
HP:0011297	Abnormal digit morphology	79087	ALG12	ORPHA:79324
HP:0011297	Abnormal digit morphology	6473	SHOX	ORPHA:240
HP:0011297	Abnormal digit morphology	26100	WIPI2	OMIM:618453
HP:0011297	Abnormal digit morphology	10533	ATG7	OMIM:619422
HP:0011297	Abnormal digit morphology	8295	TRRAP	OMIM:618454
HP:0011297	Abnormal digit morphology	9742	IFT140	OMIM:266920
HP:0011297	Abnormal digit morphology	7227	TRPS1	ORPHA:77258
HP:0011297	Abnormal digit morphology	3479	IGF1	ORPHA:73272
HP:0011297	Abnormal digit morphology	3479	IGF1	OMIM:608747
HP:0011297	Abnormal digit morphology	6477	SIAH1	OMIM:619314
HP:0011297	Abnormal digit morphology	8473	OGT	OMIM:300997
HP:0011297	Abnormal digit morphology	1798	DPAGT1	OMIM:608093
HP:0011297	Abnormal digit morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0011297	Abnormal digit morphology	100151683	RNU4ATAC	OMIM:226960
HP:0011297	Abnormal digit morphology	100151683	RNU4ATAC	OMIM:616651
HP:0011297	Abnormal digit morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011297	Abnormal digit morphology	117581	TWIST2	OMIM:200110
HP:0011297	Abnormal digit morphology	117581	TWIST2	OMIM:209885
HP:0011297	Abnormal digit morphology	23030	KDM4B	OMIM:619320
HP:0011297	Abnormal digit morphology	9126	SMC3	OMIM:610759
HP:0011297	Abnormal digit morphology	9126	SMC3	ORPHA:199
HP:0011297	Abnormal digit morphology	1725	DHPS	OMIM:618480
HP:0011297	Abnormal digit morphology	55777	MBD5	OMIM:156200
HP:0011297	Abnormal digit morphology	55777	MBD5	ORPHA:228402
HP:0011297	Abnormal digit morphology	5980	REV3L	ORPHA:570
HP:0011297	Abnormal digit morphology	23129	PLXND1	ORPHA:570
HP:0011297	Abnormal digit morphology	4784	NFIX	OMIM:602535
HP:0011297	Abnormal digit morphology	4998	ORC1	OMIM:224690
HP:0011297	Abnormal digit morphology	4998	ORC1	ORPHA:2554
HP:0011297	Abnormal digit morphology	4052	LTBP1	OMIM:619451
HP:0011297	Abnormal digit morphology	8260	NAA10	OMIM:300855
HP:0011297	Abnormal digit morphology	8260	NAA10	ORPHA:568
HP:0011297	Abnormal digit morphology	9496	TBX4	ORPHA:261279
HP:0011297	Abnormal digit morphology	8091	HMGA2	ORPHA:94063
HP:0011297	Abnormal digit morphology	8091	HMGA2	ORPHA:397590
HP:0011297	Abnormal digit morphology	23592	LEMD3	ORPHA:94063
HP:0011297	Abnormal digit morphology	5283	PIGH	OMIM:618010
HP:0011297	Abnormal digit morphology	50801	KCNK4	OMIM:618381
HP:0011297	Abnormal digit morphology	57003	CCDC47	OMIM:618268
HP:0011297	Abnormal digit morphology	5977	DPF2	OMIM:618027
HP:0011297	Abnormal digit morphology	94005	PIGS	OMIM:618143
HP:0011297	Abnormal digit morphology	145173	B3GLCT	OMIM:261540
HP:0011297	Abnormal digit morphology	145173	B3GLCT	ORPHA:709
HP:0011297	Abnormal digit morphology	285590	SH3PXD2B	ORPHA:137834
HP:0011297	Abnormal digit morphology	526	ATP6V1B2	ORPHA:79500
HP:0011297	Abnormal digit morphology	57465	TBC1D24	ORPHA:79500
HP:0011297	Abnormal digit morphology	57465	TBC1D24	OMIM:220500
HP:0011297	Abnormal digit morphology	5728	PTEN	ORPHA:744
HP:0011297	Abnormal digit morphology	207	AKT1	ORPHA:744
HP:0011297	Abnormal digit morphology	2887	GRB10	ORPHA:96182
HP:0011297	Abnormal digit morphology	1457	CSNK2A1	OMIM:617062
HP:0011297	Abnormal digit morphology	51715	RAB23	OMIM:201000
HP:0011297	Abnormal digit morphology	28952	CCDC22	OMIM:300963
HP:0011297	Abnormal digit morphology	90416	CCDC32	OMIM:619123
HP:0011297	Abnormal digit morphology	8450	CUL4B	ORPHA:85293
HP:0011297	Abnormal digit morphology	55717	WDR11	OMIM:620237
HP:0011297	Abnormal digit morphology	118924	FRA10AC1	OMIM:620113
HP:0011297	Abnormal digit morphology	22995	CEP152	OMIM:613823
HP:0011297	Abnormal digit morphology	22995	CEP152	ORPHA:808
HP:0011297	Abnormal digit morphology	3549	IHH	OMIM:112500
HP:0011297	Abnormal digit morphology	3549	IHH	ORPHA:93388
HP:0011297	Abnormal digit morphology	3090	HIC1	ORPHA:531
HP:0011297	Abnormal digit morphology	10436	EMG1	OMIM:211180
HP:0011297	Abnormal digit morphology	10436	EMG1	ORPHA:1270
HP:0011297	Abnormal digit morphology	10084	PQBP1	OMIM:309500
HP:0011297	Abnormal digit morphology	5745	PTH1R	OMIM:156400
HP:0011297	Abnormal digit morphology	89970	RSPRY1	ORPHA:457395
HP:0011297	Abnormal digit morphology	9487	PIGL	OMIM:280000
HP:0011297	Abnormal digit morphology	22800	RRAS2	ORPHA:648
HP:0011297	Abnormal digit morphology	867	CBL	ORPHA:648
HP:0011297	Abnormal digit morphology	8216	LZTR1	ORPHA:648
HP:0011297	Abnormal digit morphology	6016	RIT1	ORPHA:648
HP:0011297	Abnormal digit morphology	6237	RRAS	ORPHA:648
HP:0011297	Abnormal digit morphology	5894	RAF1	ORPHA:648
HP:0011297	Abnormal digit morphology	22808	MRAS	ORPHA:648
HP:0011297	Abnormal digit morphology	3845	KRAS	ORPHA:648
HP:0011297	Abnormal digit morphology	200734	SPRED2	ORPHA:648
HP:0011297	Abnormal digit morphology	4893	NRAS	ORPHA:648
HP:0011297	Abnormal digit morphology	6654	SOS1	ORPHA:648
HP:0011297	Abnormal digit morphology	6655	SOS2	ORPHA:648
HP:0011297	Abnormal digit morphology	5781	PTPN11	ORPHA:648
HP:0011297	Abnormal digit morphology	5922	RASA2	ORPHA:648
HP:0011297	Abnormal digit morphology	23522	KAT6B	ORPHA:3047
HP:0011297	Abnormal digit morphology	79023	NUP37	OMIM:618179
HP:0011297	Abnormal digit morphology	375056	MIA3	OMIM:619269
HP:0011297	Abnormal digit morphology	27161	AGO2	OMIM:619149
HP:0011297	Abnormal digit morphology	5567	PRKACB	OMIM:619143
HP:0011297	Abnormal digit morphology	221927	BRAT1	OMIM:618056
HP:0011297	Abnormal digit morphology	8823	FGF16	OMIM:309630
HP:0011297	Abnormal digit morphology	5518	PPP2R1A	ORPHA:457284
HP:0011297	Abnormal digit morphology	161742	SPRED1	ORPHA:137605
HP:0011297	Abnormal digit morphology	7337	UBE3A	ORPHA:238446
HP:0011297	Abnormal digit morphology	1832	DSP	ORPHA:158687
HP:0011297	Abnormal digit morphology	1832	DSP	OMIM:609638
HP:0011297	Abnormal digit morphology	3728	JUP	ORPHA:158687
HP:0011297	Abnormal digit morphology	23241	PACS2	OMIM:618067
HP:0011297	Abnormal digit morphology	7518	XRCC4	ORPHA:99812
HP:0011297	Abnormal digit morphology	3209	HOXA13	OMIM:140000
HP:0011297	Abnormal digit morphology	3209	HOXA13	ORPHA:2438
HP:0011297	Abnormal digit morphology	613	BCR	ORPHA:261330
HP:0011297	Abnormal digit morphology	1399	CRKL	ORPHA:261330
HP:0011297	Abnormal digit morphology	89910	UBE3B	OMIM:244450
HP:0011297	Abnormal digit morphology	2314	FLII	ORPHA:819
HP:0011297	Abnormal digit morphology	23096	IQSEC2	ORPHA:819
HP:0011297	Abnormal digit morphology	10522	DEAF1	ORPHA:819
HP:0011297	Abnormal digit morphology	150468	CKAP2L	ORPHA:3255
HP:0011297	Abnormal digit morphology	9184	BUB3	ORPHA:1052
HP:0011297	Abnormal digit morphology	699	BUB1	ORPHA:1052
HP:0011297	Abnormal digit morphology	699	BUB1	OMIM:620183
HP:0011297	Abnormal digit morphology	9702	CEP57	ORPHA:1052
HP:0011297	Abnormal digit morphology	9702	CEP57	OMIM:614114
HP:0011297	Abnormal digit morphology	9319	TRIP13	ORPHA:1052
HP:0011297	Abnormal digit morphology	701	BUB1B	ORPHA:1052
HP:0011297	Abnormal digit morphology	54476	RNF216	ORPHA:1173
HP:0011297	Abnormal digit morphology	10908	PNPLA6	ORPHA:1173
HP:0011297	Abnormal digit morphology	23036	ZNF292	OMIM:619188
HP:0011297	Abnormal digit morphology	51199	NIN	OMIM:614851
HP:0011297	Abnormal digit morphology	51199	NIN	ORPHA:319675
HP:0011297	Abnormal digit morphology	1954	MEGF8	OMIM:614976
HP:0011297	Abnormal digit morphology	1857	DVL3	ORPHA:3107
HP:0011297	Abnormal digit morphology	7474	WNT5A	ORPHA:3107
HP:0011297	Abnormal digit morphology	1855	DVL1	ORPHA:3107
HP:0011297	Abnormal digit morphology	2535	FZD2	ORPHA:3107
HP:0011297	Abnormal digit morphology	2535	FZD2	OMIM:164745
HP:0011297	Abnormal digit morphology	26053	AUTS2	OMIM:615834
HP:0011297	Abnormal digit morphology	2122	MECOM	ORPHA:71289
HP:0011297	Abnormal digit morphology	3207	HOXA11	ORPHA:71289
HP:0011297	Abnormal digit morphology	3207	HOXA11	OMIM:605432
HP:0011297	Abnormal digit morphology	81031	SLC2A10	ORPHA:3342
HP:0011297	Abnormal digit morphology	10236	HNRNPR	OMIM:620073
HP:0011297	Abnormal digit morphology	6628	SNRPB	ORPHA:1393
HP:0011297	Abnormal digit morphology	6628	SNRPB	OMIM:117650
HP:0011297	Abnormal digit morphology	1028	CDKN1C	ORPHA:397590
HP:0011297	Abnormal digit morphology	5324	PLAG1	ORPHA:397590
HP:0011297	Abnormal digit morphology	9555	MACROH2A1	ORPHA:1275
HP:0011297	Abnormal digit morphology	5307	PITX1	ORPHA:1275
HP:0011297	Abnormal digit morphology	5422	POLA1	ORPHA:163976
HP:0011297	Abnormal digit morphology	5422	POLA1	OMIM:301030
HP:0011297	Abnormal digit morphology	55906	ZC4H2	ORPHA:3454
HP:0011297	Abnormal digit morphology	10430	TMEM147	OMIM:620075
HP:0011297	Abnormal digit morphology	3187	HNRNPH1	OMIM:620083
HP:0011297	Abnormal digit morphology	23414	ZFPM2	OMIM:187500
HP:0011297	Abnormal digit morphology	23414	ZFPM2	ORPHA:3303
HP:0011297	Abnormal digit morphology	1482	NKX2-5	OMIM:187500
HP:0011297	Abnormal digit morphology	1482	NKX2-5	ORPHA:3303
HP:0011297	Abnormal digit morphology	182	JAG1	OMIM:187500
HP:0011297	Abnormal digit morphology	182	JAG1	ORPHA:3303
HP:0011297	Abnormal digit morphology	6899	TBX1	OMIM:187500
HP:0011297	Abnormal digit morphology	6899	TBX1	ORPHA:3303
HP:0011297	Abnormal digit morphology	2627	GATA6	OMIM:187500
HP:0011297	Abnormal digit morphology	2627	GATA6	ORPHA:3303
HP:0011297	Abnormal digit morphology	545	ATR	ORPHA:808
HP:0011297	Abnormal digit morphology	545	ATR	OMIM:210600
HP:0011297	Abnormal digit morphology	1062	CENPE	ORPHA:808
HP:0011297	Abnormal digit morphology	5116	PCNT	ORPHA:808
HP:0011297	Abnormal digit morphology	5116	PCNT	OMIM:210720
HP:0011297	Abnormal digit morphology	5116	PCNT	ORPHA:2637
HP:0011297	Abnormal digit morphology	79902	NUP85	ORPHA:808
HP:0011297	Abnormal digit morphology	84126	ATRIP	ORPHA:808
HP:0011297	Abnormal digit morphology	55835	CENPJ	ORPHA:808
HP:0011297	Abnormal digit morphology	10293	TRAIP	ORPHA:808
HP:0011297	Abnormal digit morphology	10733	PLK4	ORPHA:808
HP:0011297	Abnormal digit morphology	29123	ANKRD11	OMIM:148050
HP:0011297	Abnormal digit morphology	9775	EIF4A3	OMIM:268305
HP:0011297	Abnormal digit morphology	2702	GJA5	OMIM:612474
HP:0011297	Abnormal digit morphology	2702	GJA5	ORPHA:3303
HP:0011297	Abnormal digit morphology	2703	GJA8	OMIM:612474
HP:0011297	Abnormal digit morphology	55690	PACS1	ORPHA:329224
HP:0011297	Abnormal digit morphology	22856	CHSY1	ORPHA:363417
HP:0011297	Abnormal digit morphology	51621	KLF13	OMIM:612001
HP:0011297	Abnormal digit morphology	5648	MASP1	OMIM:257920
HP:0011297	Abnormal digit morphology	11133	KPTN	OMIM:615637
HP:0011297	Abnormal digit morphology	11133	KPTN	ORPHA:397612
HP:0011297	Abnormal digit morphology	137814	NKX2-6	ORPHA:3303
HP:0011297	Abnormal digit morphology	3791	KDR	ORPHA:3303
HP:0011297	Abnormal digit morphology	2657	GDF1	ORPHA:3303
HP:0011297	Abnormal digit morphology	140628	GATA5	ORPHA:3303
HP:0011297	Abnormal digit morphology	2324	FLT4	ORPHA:3303
HP:0011297	Abnormal digit morphology	10370	CITED2	ORPHA:3303
HP:0011297	Abnormal digit morphology	2334	AFF2	ORPHA:100973
HP:0011297	Abnormal digit morphology	10847	SRCAP	OMIM:136140
HP:0011297	Abnormal digit morphology	54808	DYM	OMIM:223800
HP:0011297	Abnormal digit morphology	84679	SLC9A7	OMIM:301024
HP:0011297	Abnormal digit morphology	10735	STAG2	OMIM:301022
HP:0011297	Abnormal digit morphology	5925	RB1	ORPHA:1587
HP:0011297	Abnormal digit morphology	7874	USP7	OMIM:616863
HP:0011297	Abnormal digit morphology	81620	CDT1	ORPHA:2554
HP:0011297	Abnormal digit morphology	5000	ORC4	ORPHA:2554
HP:0011297	Abnormal digit morphology	23594	ORC6	ORPHA:2554
HP:0011297	Abnormal digit morphology	990	CDC6	ORPHA:2554
HP:0011297	Abnormal digit morphology	51053	GMNN	ORPHA:2554
HP:0011297	Abnormal digit morphology	25	ABL1	OMIM:617602
HP:0011297	Abnormal digit morphology	29980	DONSON	OMIM:617604
HP:0011297	Abnormal digit morphology	6638	SNRPN	ORPHA:177907
HP:0011297	Abnormal digit morphology	23476	BRD4	ORPHA:199
HP:0011297	Abnormal digit morphology	22931	RAB18	OMIM:614222
HP:0011297	Abnormal digit morphology	490	ATP2B1	OMIM:619910
HP:0011297	Abnormal digit morphology	54870	QRICH1	OMIM:617982
HP:0011297	Abnormal digit morphology	139285	AMER1	OMIM:300373
HP:0011297	Abnormal digit morphology	4841	NONO	ORPHA:466791
HP:0011297	Abnormal digit morphology	2186	BPTF	OMIM:617755
HP:0011297	Abnormal digit morphology	59341	TRPV4	ORPHA:2635
HP:0011297	Abnormal digit morphology	10225	CD96	ORPHA:1308
HP:0011297	Abnormal digit morphology	64131	XYLT1	ORPHA:1425
HP:0011297	Abnormal digit morphology	124583	CANT1	ORPHA:1425
HP:0011297	Abnormal digit morphology	4204	MECP2	OMIM:300260
HP:0011297	Abnormal digit morphology	55553	SOX6	OMIM:618971
HP:0011297	Abnormal digit morphology	84148	KAT8	OMIM:618974
HP:0011297	Abnormal digit morphology	58499	ZNF462	OMIM:618619
HP:0011297	Abnormal digit morphology	6598	SMARCB1	OMIM:614608
HP:0011297	Abnormal digit morphology	8838	CCN6	ORPHA:1159
HP:0011297	Abnormal digit morphology	4148	MATN3	ORPHA:93311
HP:0011297	Abnormal digit morphology	10682	EBP	ORPHA:401973
HP:0011297	Abnormal digit morphology	10682	EBP	OMIM:300960
HP:0011297	Abnormal digit morphology	650	BMP2	OMIM:112600
HP:0011297	Abnormal digit morphology	11253	MAN1B1	ORPHA:397941
HP:0011297	Abnormal digit morphology	23394	ADNP	ORPHA:404448
HP:0011297	Abnormal digit morphology	5898	RALA	OMIM:619311
HP:0011297	Abnormal digit morphology	8294	H4C9	OMIM:619951
HP:0011297	Abnormal digit morphology	8506	CNTNAP1	OMIM:618186
HP:0011297	Abnormal digit morphology	4683	NBN	OMIM:251260
HP:0011297	Abnormal digit morphology	5885	RAD21	OMIM:614701
HP:0011297	Abnormal digit morphology	81857	MED25	OMIM:616449
HP:0011297	Abnormal digit morphology	81857	MED25	ORPHA:464738
HP:0011297	Abnormal digit morphology	10586	MAB21L2	OMIM:615877
HP:0011297	Abnormal digit morphology	8854	ALDH1A2	OMIM:620025
HP:0011297	Abnormal digit morphology	10274	STAG1	ORPHA:502434
HP:0011297	Abnormal digit morphology	85358	SHANK3	OMIM:606232
HP:0011297	Abnormal digit morphology	64324	NSD1	ORPHA:821
HP:0011297	Abnormal digit morphology	29072	SETD2	ORPHA:821
HP:0011297	Abnormal digit morphology	10297	APC2	ORPHA:821
HP:0011297	Abnormal digit morphology	55209	SETD5	ORPHA:404440
HP:0011297	Abnormal digit morphology	10743	RAI1	ORPHA:477817
HP:0011297	Abnormal digit morphology	55790	CSGALNACT1	OMIM:618870
HP:0011297	Abnormal digit morphology	23291	FBXW11	OMIM:618914
HP:0011297	Abnormal digit morphology	10982	MAPRE2	OMIM:616734
HP:0011297	Abnormal digit morphology	1717	DHCR7	ORPHA:818
HP:0011297	Abnormal digit morphology	1717	DHCR7	OMIM:270400
HP:0011297	Abnormal digit morphology	4297	KMT2A	OMIM:605130
HP:0011297	Abnormal digit morphology	8626	TP63	OMIM:106260
HP:0011297	Abnormal digit morphology	6660	SOX5	ORPHA:313892
HP:0011297	Abnormal digit morphology	54880	BCOR	ORPHA:2712
HP:0011297	Abnormal digit morphology	54880	BCOR	OMIM:300166
HP:0011297	Abnormal digit morphology	51057	WDPCP	OMIM:217085
HP:0011297	Abnormal digit morphology	9241	NOG	OMIM:186500
HP:0011297	Abnormal digit morphology	7319	UBE2A	OMIM:300860
HP:0011297	Abnormal digit morphology	10087	CERT1	OMIM:616351
HP:0011297	Abnormal digit morphology	372	ARCN1	OMIM:617164
HP:0011297	Abnormal digit morphology	164	AP1G1	OMIM:619467
HP:0011297	Abnormal digit morphology	1656	DDX6	OMIM:618653
HP:0011297	Abnormal digit morphology	4212	MEIS2	OMIM:600987
HP:0011297	Abnormal digit morphology	23327	NEDD4L	OMIM:617201
HP:0011297	Abnormal digit morphology	5147	PDE6D	OMIM:615665
HP:0011297	Abnormal digit morphology	57178	ZMIZ1	OMIM:618659
HP:0011297	Abnormal digit morphology	93627	TBCK	ORPHA:488632
HP:0011297	Abnormal digit morphology	6304	SATB1	OMIM:619229
HP:0011297	Abnormal digit morphology	80185	TTI2	ORPHA:391307
HP:0011297	Abnormal digit morphology	26160	IFT172	OMIM:619471
HP:0011297	Abnormal digit morphology	10664	CTCF	ORPHA:363611
HP:0011297	Abnormal digit morphology	3590	IL11RA	OMIM:614188
HP:0011297	Abnormal digit morphology	55165	CEP55	OMIM:236500
HP:0011297	Abnormal digit morphology	84992	PIGY	OMIM:616809
HP:0011297	Abnormal digit morphology	10907	TXNL4A	OMIM:608572
HP:0011297	Abnormal digit morphology	284252	KCTD1	OMIM:181270
HP:0011297	Abnormal digit morphology	6558	SLC12A2	OMIM:619080
HP:0011297	Abnormal digit morphology	7204	TRIO	OMIM:617061
HP:0011297	Abnormal digit morphology	7204	TRIO	ORPHA:476126
HP:0011297	Abnormal digit morphology	2222	FDFT1	OMIM:618156
HP:0011297	Abnormal digit morphology	4089	SMAD4	OMIM:139210
HP:0011297	Abnormal digit morphology	6857	SYT1	ORPHA:522077
HP:0011297	Abnormal digit morphology	6472	SHMT2	OMIM:619121
HP:0011297	Abnormal digit morphology	112752	IFT43	OMIM:617866
HP:0011297	Abnormal digit morphology	112752	IFT43	OMIM:614099
HP:0011297	Abnormal digit morphology	57570	TRMT5	OMIM:616539
HP:0011297	Abnormal digit morphology	2260	FGFR1	OMIM:123150
HP:0011297	Abnormal digit morphology	23529	CLCF1	OMIM:610313
HP:0011297	Abnormal digit morphology	11128	POLR3A	ORPHA:3455
HP:0011297	Abnormal digit morphology	745	MYRF	OMIM:618280
HP:0011297	Abnormal digit morphology	23387	SIK3	OMIM:618162
HP:0011297	Abnormal digit morphology	10020	GNE	OMIM:269921
HP:0011297	Abnormal digit morphology	10020	GNE	ORPHA:3166
HP:0011297	Abnormal digit morphology	1663	DDX11	OMIM:613398
HP:0011297	Abnormal digit morphology	5718	PSMD12	OMIM:617516
HP:0011297	Abnormal digit morphology	9757	KMT2B	OMIM:619934
HP:0011297	Abnormal digit morphology	4848	CNOT2	OMIM:618608
HP:0011297	Abnormal digit morphology	55023	PHIP	ORPHA:589905
HP:0011297	Abnormal digit morphology	341208	HEPHL1	OMIM:261990
HP:0011297	Abnormal digit morphology	55212	BBS7	OMIM:615984
HP:0011297	Abnormal digit morphology	4208	MEF2C	OMIM:613443
HP:0011297	Abnormal digit morphology	3516	RBPJ	OMIM:614814
HP:0011297	Abnormal digit morphology	3720	JARID2	OMIM:620098
HP:0011297	Abnormal digit morphology	3762	KCNJ5	ORPHA:37553
HP:0011297	Abnormal digit morphology	3759	KCNJ2	ORPHA:37553
HP:0011297	Abnormal digit morphology	9990	SLC12A6	OMIM:218000
HP:0011297	Abnormal digit morphology	4613	MYCN	ORPHA:391641
HP:0011297	Abnormal digit morphology	4613	MYCN	OMIM:164280
HP:0011297	Abnormal digit morphology	51776	MAP3K20	OMIM:616890
HP:0011297	Abnormal digit morphology	51776	MAP3K20	ORPHA:488232
HP:0011297	Abnormal digit morphology	6913	TBX15	OMIM:260660
HP:0011297	Abnormal digit morphology	54888	NSUN2	OMIM:611091
HP:0011297	Abnormal digit morphology	50814	NSDHL	OMIM:308050
HP:0011297	Abnormal digit morphology	92002	CCNQ	OMIM:300707
HP:0011297	Abnormal digit morphology	81607	NECTIN4	OMIM:613573
HP:0011297	Abnormal digit morphology	9894	TELO2	ORPHA:488642
HP:0011297	Abnormal digit morphology	5932	RBBP8	OMIM:251255
HP:0011297	Abnormal digit morphology	6662	SOX9	OMIM:114290
HP:0011297	Abnormal digit morphology	55628	ZNF407	OMIM:619557
HP:0011297	Abnormal digit morphology	84265	POLR3GL	OMIM:619234
HP:0011297	Abnormal digit morphology	1327	COX4I1	OMIM:619060
HP:0011297	Abnormal digit morphology	1147	CHUK	OMIM:619339
HP:0011297	Abnormal digit morphology	10079	ATP9A	OMIM:620242
HP:0011297	Abnormal digit morphology	23261	CAMTA1	OMIM:614756
HP:0011297	Abnormal digit morphology	11160	ERLIN2	ORPHA:209951
HP:0011297	Abnormal digit morphology	22978	NT5C2	ORPHA:320396
HP:0011297	Abnormal digit morphology	1984	EIF5A	OMIM:619376
HP:0011297	Abnormal digit morphology	51305	KCNK9	ORPHA:166108
HP:0011297	Abnormal digit morphology	825	CAPN3	ORPHA:267
HP:0011297	Abnormal digit morphology	113179	ADAT3	ORPHA:363528
HP:0011297	Abnormal digit morphology	83452	RAB33B	OMIM:615222
HP:0011297	Abnormal digit morphology	1788	DNMT3A	OMIM:618724
HP:0011297	Abnormal digit morphology	54332	GDAP1	ORPHA:99948
HP:0011297	Abnormal digit morphology	4233	MET	OMIM:620019
HP:0011297	Abnormal digit morphology	54681	P4HTM	OMIM:618493
HP:0011297	Abnormal digit morphology	128674	PROKR2	OMIM:244200
HP:0011297	Abnormal digit morphology	22861	NLRP1	OMIM:615225
HP:0011297	Abnormal digit morphology	3373	HYAL1	OMIM:601492
HP:0011297	Abnormal digit morphology	79639	TMEM53	OMIM:619727
HP:0011297	Abnormal digit morphology	341640	FREM2	ORPHA:2052
HP:0011297	Abnormal digit morphology	80144	FRAS1	ORPHA:2052
HP:0011297	Abnormal digit morphology	23426	GRIP1	ORPHA:2052
HP:0011297	Abnormal digit morphology	9790	BMS1	ORPHA:1114
HP:0011297	Abnormal digit morphology	5339	PLEC	ORPHA:1114
HP:0011297	Abnormal digit morphology	3691	ITGB4	ORPHA:1114
HP:0011297	Abnormal digit morphology	1750	DLX6	ORPHA:2440
HP:0011297	Abnormal digit morphology	7979	SEM1	ORPHA:2440
HP:0011297	Abnormal digit morphology	8945	BTRC	ORPHA:2440
HP:0011297	Abnormal digit morphology	58513	EPS15L1	ORPHA:2440
HP:0011297	Abnormal digit morphology	6468	FBXW4	ORPHA:2440
HP:0011297	Abnormal digit morphology	5818	NECTIN1	ORPHA:3253
HP:0011297	Abnormal digit morphology	324	APC	ORPHA:3258
HP:0011297	Abnormal digit morphology	1500	CTNND1	ORPHA:1997
HP:0011297	Abnormal digit morphology	134701	RIPPLY2	ORPHA:2311
HP:0011297	Abnormal digit morphology	10683	DLL3	ORPHA:2311
HP:0011297	Abnormal digit morphology	84667	HES7	ORPHA:2311
HP:0011297	Abnormal digit morphology	145873	MESP2	ORPHA:2311
HP:0011297	Abnormal digit morphology	1501	CTNND2	ORPHA:281
HP:0011297	Abnormal digit morphology	9037	SEMA5A	ORPHA:281
HP:0011297	Abnormal digit morphology	9508	ADAMTS3	ORPHA:2136
HP:0011297	Abnormal digit morphology	147372	CCBE1	ORPHA:2136
HP:0011297	Abnormal digit morphology	8517	IKBKG	ORPHA:464
HP:0011297	Abnormal digit morphology	2767	GNA11	ORPHA:1556
HP:0011297	Abnormal digit morphology	151188	ARL6IP6	ORPHA:1556
HP:0011297	Abnormal digit morphology	55612	FERMT1	ORPHA:2908
HP:0011297	Abnormal digit morphology	3664	IRF6	ORPHA:1300
HP:0011297	Abnormal digit morphology	29968	PSAT1	OMIM:616038
HP:0011297	Abnormal digit morphology	9451	EIF2AK3	OMIM:226980
HP:0011297	Abnormal digit morphology	64135	IFIH1	OMIM:182250
HP:0011297	Abnormal digit morphology	3376	IARS1	ORPHA:541423
HP:0011297	Abnormal digit morphology	5830	PEX5	OMIM:616716
HP:0011297	Abnormal digit morphology	6583	SLC22A4	OMIM:180300
HP:0011297	Abnormal digit morphology	26191	PTPN22	OMIM:180300
HP:0011297	Abnormal digit morphology	4261	CIITA	OMIM:180300
HP:0011297	Abnormal digit morphology	51744	CD244	OMIM:180300
HP:0011297	Abnormal digit morphology	4795	NFKBIL1	OMIM:180300
HP:0011297	Abnormal digit morphology	3586	IL10	OMIM:180300
HP:0011297	Abnormal digit morphology	26278	SACS	OMIM:270550
HP:0011297	Abnormal digit morphology	79158	GNPTAB	OMIM:252600
HP:0011297	Abnormal digit morphology	7466	WFS1	OMIM:222300
HP:0011297	Abnormal digit morphology	54829	ASPN	OMIM:607850
HP:0011297	Abnormal digit morphology	1290	COL5A2	ORPHA:287
HP:0011297	Abnormal digit morphology	84342	COG8	OMIM:611182
HP:0011297	Abnormal digit morphology	2273	FHL1	OMIM:300280
HP:0011297	Abnormal digit morphology	79912	PYROXD1	OMIM:617258
HP:0011297	Abnormal digit morphology	10765	KDM5B	OMIM:618109
HP:0011297	Abnormal digit morphology	10093	ARPC4	OMIM:620141
HP:0011297	Abnormal digit morphology	5879	RAC1	ORPHA:500159
HP:0011297	Abnormal digit morphology	1144	CHRND	OMIM:253290
HP:0011297	Abnormal digit morphology	1134	CHRNA1	OMIM:253290
HP:0011297	Abnormal digit morphology	2019	EN1	OMIM:619218
HP:0011297	Abnormal digit morphology	51651	PTRH2	OMIM:616263
HP:0011297	Abnormal digit morphology	51651	PTRH2	ORPHA:456312
HP:0011297	Abnormal digit morphology	22930	RAB3GAP1	ORPHA:1387
HP:0011297	Abnormal digit morphology	25782	RAB3GAP2	ORPHA:1387
HP:0011297	Abnormal digit morphology	9382	COG1	OMIM:611209
HP:0011297	Abnormal digit morphology	2146	EZH2	OMIM:277590
HP:0011297	Abnormal digit morphology	3480	IGF1R	OMIM:270450
HP:0011297	Abnormal digit morphology	1277	COL1A1	OMIM:130060
HP:0011297	Abnormal digit morphology	6909	TBX2	OMIM:618223
HP:0011297	Abnormal digit morphology	8985	PLOD3	OMIM:612394
HP:0011297	Abnormal digit morphology	55012	PPP2R3C	OMIM:618419
HP:0011297	Abnormal digit morphology	55280	CWF19L1	ORPHA:453521
HP:0011297	Abnormal digit morphology	579	NKX3-2	OMIM:613330
HP:0011297	Abnormal digit morphology	5293	PIK3CD	ORPHA:221139
HP:0011297	Abnormal digit morphology	90417	KNSTRN	ORPHA:221139
HP:0011297	Abnormal digit morphology	23586	RIGI	OMIM:616298
HP:0011297	Abnormal digit morphology	340419	RSPO2	OMIM:618022
HP:0011297	Abnormal digit morphology	8452	CUL3	OMIM:619239
HP:0011297	Abnormal digit morphology	3417	IDH1	ORPHA:99646
HP:0011297	Abnormal digit morphology	1807	DPYS	OMIM:222748
HP:0011297	Abnormal digit morphology	9509	ADAMTS2	OMIM:225410
HP:0011297	Abnormal digit morphology	64682	ANAPC1	ORPHA:221008
HP:0011297	Abnormal digit morphology	8815	BANF1	OMIM:614008
HP:0011297	Abnormal digit morphology	4921	DDR2	OMIM:271665
HP:0011297	Abnormal digit morphology	26229	B3GAT3	OMIM:245600
HP:0011297	Abnormal digit morphology	51412	ACTL6B	OMIM:618470
HP:0011297	Abnormal digit morphology	55784	MCTP2	ORPHA:1596
HP:0011297	Abnormal digit morphology	10651	MTX2	ORPHA:90153
HP:0011297	Abnormal digit morphology	10269	ZMPSTE24	ORPHA:90154
HP:0011297	Abnormal digit morphology	24140	FTSJ1	OMIM:309549
HP:0011297	Abnormal digit morphology	2475	MTOR	OMIM:616638
HP:0011297	Abnormal digit morphology	54	ACP5	ORPHA:1855
HP:0011297	Abnormal digit morphology	1300	COL10A1	OMIM:156500
HP:0011297	Abnormal digit morphology	5281	PIGF	OMIM:619356
HP:0011297	Abnormal digit morphology	2677	GGCX	OMIM:277450
HP:0011297	Abnormal digit morphology	415	ARSL	ORPHA:79345
HP:0011297	Abnormal digit morphology	415	ARSL	OMIM:302950
HP:0011297	Abnormal digit morphology	25839	COG4	OMIM:618150
HP:0011297	Abnormal digit morphology	26137	ZBTB20	OMIM:259050
HP:0011297	Abnormal digit morphology	60401	EDA2R	ORPHA:181
HP:0011297	Abnormal digit morphology	1896	EDA	ORPHA:181
HP:0011297	Abnormal digit morphology	4256	MGP	ORPHA:85202
HP:0011297	Abnormal digit morphology	4256	MGP	OMIM:245150
HP:0011297	Abnormal digit morphology	1186	CLCN7	ORPHA:53
HP:0011297	Abnormal digit morphology	865	CBFB	OMIM:620099
HP:0011297	Abnormal digit morphology	6711	SPTBN1	OMIM:619475
HP:0011297	Abnormal digit morphology	71	ACTG1	ORPHA:2995
HP:0011297	Abnormal digit morphology	6135	RPL11	ORPHA:124
HP:0011297	Abnormal digit morphology	6138	RPL15	ORPHA:124
HP:0011297	Abnormal digit morphology	6229	RPS24	ORPHA:124
HP:0011297	Abnormal digit morphology	6125	RPL5	ORPHA:124
HP:0011297	Abnormal digit morphology	6204	RPS10	ORPHA:124
HP:0011297	Abnormal digit morphology	6224	RPS20	ORPHA:124
HP:0011297	Abnormal digit morphology	6165	RPL35A	ORPHA:124
HP:0011297	Abnormal digit morphology	6223	RPS19	ORPHA:124
HP:0011297	Abnormal digit morphology	6223	RPS19	OMIM:105650
HP:0011297	Abnormal digit morphology	6232	RPS27	ORPHA:124
HP:0011297	Abnormal digit morphology	6231	RPS26	ORPHA:124
HP:0011297	Abnormal digit morphology	11224	RPL35	ORPHA:124
HP:0011297	Abnormal digit morphology	6160	RPL31	ORPHA:124
HP:0011297	Abnormal digit morphology	6218	RPS17	ORPHA:124
HP:0011297	Abnormal digit morphology	6201	RPS7	ORPHA:124
HP:0011297	Abnormal digit morphology	6155	RPL27	ORPHA:124
HP:0011297	Abnormal digit morphology	6210	RPS15A	ORPHA:124
HP:0011297	Abnormal digit morphology	90121	TSR2	ORPHA:124
HP:0011297	Abnormal digit morphology	6141	RPL18	ORPHA:124
HP:0011297	Abnormal digit morphology	6235	RPS29	ORPHA:124
HP:0011297	Abnormal digit morphology	6234	RPS28	ORPHA:124
HP:0011297	Abnormal digit morphology	51816	ADA2	ORPHA:124
HP:0011297	Abnormal digit morphology	10992	SF3B2	OMIM:164210
HP:0011297	Abnormal digit morphology	27152	INTU	OMIM:617926
HP:0011297	Abnormal digit morphology	57020	VPS35L	OMIM:619135
HP:0011297	Abnormal digit morphology	3911	LAMA5	OMIM:620076
HP:0011297	Abnormal digit morphology	10059	DNM1L	OMIM:614388
HP:0011297	Abnormal digit morphology	4329	ALDH6A1	OMIM:614105
HP:0011297	Abnormal digit morphology	6878	TAF6	OMIM:617126
HP:0011297	Abnormal digit morphology	285362	SUMF1	ORPHA:585
HP:0011297	Abnormal digit morphology	3764	KCNJ8	ORPHA:1517
HP:0011297	Abnormal digit morphology	10060	ABCC9	ORPHA:1517
HP:0011297	Abnormal digit morphology	60	ACTB	OMIM:243310
HP:0011297	Abnormal digit morphology	10716	TBR1	ORPHA:1617
HP:0011297	Abnormal digit morphology	9653	HS2ST1	OMIM:619194
HP:0011297	Abnormal digit morphology	1161	ERCC8	OMIM:216400
HP:0011297	Abnormal digit morphology	158326	FREM1	ORPHA:217266
HP:0011297	Abnormal digit morphology	3170	FOXA2	ORPHA:95494
HP:0011297	Abnormal digit morphology	5015	OTX2	ORPHA:95494
HP:0011297	Abnormal digit morphology	3899	AFF3	OMIM:619297
HP:0011297	Abnormal digit morphology	22897	CEP164	OMIM:614845
HP:0011297	Abnormal digit morphology	3643	INSR	ORPHA:769
HP:0011297	Abnormal digit morphology	26146	TRAF3IP1	OMIM:616629
HP:0011297	Abnormal digit morphology	7840	ALMS1	OMIM:203800
HP:0011297	Abnormal digit morphology	8802	SUCLG1	ORPHA:17
HP:0011297	Abnormal digit morphology	83879	CDCA7	OMIM:616910
HP:0011297	Abnormal digit morphology	5813	PURA	ORPHA:314655
HP:0011297	Abnormal digit morphology	4758	NEU1	ORPHA:93400
HP:0011297	Abnormal digit morphology	51111	KMT5B	OMIM:617788
HP:0011297	Abnormal digit morphology	80347	COASY	OMIM:618266
HP:0011297	Abnormal digit morphology	54809	SAMD9	OMIM:617053
HP:0011297	Abnormal digit morphology	348180	CTU2	OMIM:618142
HP:0011297	Abnormal digit morphology	7841	MOGS	OMIM:606056
HP:0011297	Abnormal digit morphology	7841	MOGS	ORPHA:79330
HP:0011297	Abnormal digit morphology	256297	PTF1A	OMIM:609069
HP:0011297	Abnormal digit morphology	129285	PPP1R21	OMIM:619383
HP:0011297	Abnormal digit morphology	8567	MADD	OMIM:619004
HP:0011297	Abnormal digit morphology	5297	PI4KA	OMIM:616531
HP:0011297	Abnormal digit morphology	5297	PI4KA	OMIM:619708
HP:0011297	Abnormal digit morphology	1822	ATN1	OMIM:618494
HP:0011297	Abnormal digit morphology	5591	PRKDC	OMIM:615966
HP:0011297	Abnormal digit morphology	4626	MYH8	OMIM:158300
HP:0011297	Abnormal digit morphology	64116	SLC39A8	ORPHA:468699
HP:0011297	Abnormal digit morphology	11146	GLMN	ORPHA:83454
HP:0011297	Abnormal digit morphology	29998	BICRA	OMIM:619325
HP:0011297	Abnormal digit morphology	8726	EED	OMIM:617561
HP:0011297	Abnormal digit morphology	8726	EED	ORPHA:3447
HP:0011297	Abnormal digit morphology	657	BMPR1A	ORPHA:79076
HP:0011297	Abnormal digit morphology	4123	MAN2C1	OMIM:619775
HP:0011297	Abnormal digit morphology	60529	ALX4	ORPHA:60015
HP:0011297	Abnormal digit morphology	5587	PRKD1	OMIM:617364
HP:0011297	Abnormal digit morphology	6872	TAF1	OMIM:300966
HP:0011297	Abnormal digit morphology	3835	KIF22	OMIM:603546
HP:0011297	Abnormal digit morphology	6840	SVIL	OMIM:619040
HP:0011297	Abnormal digit morphology	342035	GLDN	OMIM:617194
HP:0011297	Abnormal digit morphology	57190	SELENON	ORPHA:2020
HP:0011297	Abnormal digit morphology	4633	MYL2	ORPHA:2020
HP:0011297	Abnormal digit morphology	3679	ITGA7	ORPHA:2020
HP:0011297	Abnormal digit morphology	9200	HACD1	ORPHA:2020
HP:0011297	Abnormal digit morphology	7170	TPM3	ORPHA:2020
HP:0011297	Abnormal digit morphology	28982	FLVCR1	ORPHA:88628
HP:0011297	Abnormal digit morphology	28982	FLVCR1	OMIM:609033
HP:0011297	Abnormal digit morphology	22880	MORC2	ORPHA:466768
HP:0011297	Abnormal digit morphology	4747	NEFL	ORPHA:101085
HP:0011297	Abnormal digit morphology	203859	ANO5	ORPHA:206549
HP:0011297	Abnormal digit morphology	6399	TRAPPC2	ORPHA:93284
HP:0011297	Abnormal digit morphology	5696	PSMB8	OMIM:256040
HP:0011297	Abnormal digit morphology	5692	PSMB4	OMIM:617591
HP:0011297	Abnormal digit morphology	5698	PSMB9	OMIM:617591
HP:0011297	Abnormal digit morphology	4952	OCRL	OMIM:309000
HP:0011297	Abnormal digit morphology	4313	MMP2	OMIM:259600
HP:0011297	Abnormal digit morphology	83932	SPRTN	OMIM:616200
HP:0011297	Abnormal digit morphology	26012	NSMF	OMIM:614838
HP:0011297	Abnormal digit morphology	55780	ERMARD	ORPHA:75857
HP:0011297	Abnormal digit morphology	10559	SLC35A1	OMIM:603585
HP:0011297	Abnormal digit morphology	84720	PIGO	ORPHA:247262
HP:0011297	Abnormal digit morphology	93210	PGAP3	ORPHA:247262
HP:0011297	Abnormal digit morphology	284098	PIGW	ORPHA:247262
HP:0011297	Abnormal digit morphology	27315	PGAP2	ORPHA:247262
HP:0011297	Abnormal digit morphology	10584	COLEC10	OMIM:248340
HP:0011297	Abnormal digit morphology	92579	G6PC3	OMIM:612541
HP:0011297	Abnormal digit morphology	23512	SUZ12	OMIM:618786
HP:0011297	Abnormal digit morphology	8558	CDK10	OMIM:617694
HP:0011297	Abnormal digit morphology	8085	KMT2D	OMIM:620186
HP:0011297	Abnormal digit morphology	23137	SMC5	OMIM:620185
HP:0011297	Abnormal digit morphology	79759	ZNF668	OMIM:620194
HP:0011297	Abnormal digit morphology	27086	FOXP1	ORPHA:391372
HP:0011297	Abnormal digit morphology	56098	PCDHGC4	OMIM:619880
HP:0011297	Abnormal digit morphology	8621	CDK13	OMIM:617360
HP:0011297	Abnormal digit morphology	5881	RAC3	OMIM:618577
HP:0011297	Abnormal digit morphology	5426	POLE	OMIM:618336
HP:0011297	Abnormal digit morphology	6664	SOX11	OMIM:615866
HP:0011297	Abnormal digit morphology	6664	SOX11	ORPHA:1465
HP:0011297	Abnormal digit morphology	54892	NCAPG2	OMIM:618460
HP:0011297	Abnormal digit morphology	2335	FN1	ORPHA:93315
HP:0011297	Abnormal digit morphology	55315	SLC29A3	OMIM:602782
HP:0011297	Abnormal digit morphology	999	CDH1	OMIM:119580
HP:0011297	Abnormal digit morphology	23511	NUP188	OMIM:618804
HP:0011297	Abnormal digit morphology	6597	SMARCA4	ORPHA:1465
HP:0011297	Abnormal digit morphology	6601	SMARCC2	ORPHA:1465
HP:0011297	Abnormal digit morphology	6602	SMARCD1	ORPHA:1465
HP:0011297	Abnormal digit morphology	83737	ITCH	OMIM:613385
HP:0011297	Abnormal digit morphology	83737	ITCH	ORPHA:228426
HP:0011297	Abnormal digit morphology	93587	TRMT10A	ORPHA:391408
HP:0011297	Abnormal digit morphology	84919	PPP1R15B	ORPHA:391408
HP:0011297	Abnormal digit morphology	6748	SSR4	OMIM:300934
HP:0011297	Abnormal digit morphology	9320	TRIP12	OMIM:617752
HP:0011297	Abnormal digit morphology	84231	TRAF7	OMIM:618164
HP:0011297	Abnormal digit morphology	11043	MID2	OMIM:300928
HP:0011297	Abnormal digit morphology	5286	PIK3C2A	ORPHA:557003
HP:0011297	Abnormal digit morphology	23309	SIN3B	ORPHA:500166
HP:0011297	Abnormal digit morphology	128	ADH5	OMIM:619151
HP:0011297	Abnormal digit morphology	126129	CPT1C	OMIM:616282
HP:0011297	Abnormal digit morphology	1747	DLX3	ORPHA:3352
HP:0011297	Abnormal digit morphology	3767	KCNJ11	ORPHA:79134
HP:0011297	Abnormal digit morphology	79731	NARS2	ORPHA:79134
HP:0011297	Abnormal digit morphology	6833	ABCC8	ORPHA:79134
HP:0011297	Abnormal digit morphology	1063	CENPF	OMIM:243605
HP:0011297	Abnormal digit morphology	26047	CNTNAP2	ORPHA:163681
HP:0011297	Abnormal digit morphology	9371	KIF3B	OMIM:618955
HP:0011297	Abnormal digit morphology	286204	CRB2	OMIM:219730
HP:0011297	Abnormal digit morphology	57511	COG6	OMIM:614576
HP:0011297	Abnormal digit morphology	84300	UQCC2	OMIM:615824
HP:0011297	Abnormal digit morphology	5528	PPP2R5D	ORPHA:457279
HP:0011297	Abnormal digit morphology	2218	FKTN	ORPHA:272
HP:0011297	Abnormal digit morphology	3094	HINT1	ORPHA:324442
HP:0011297	Abnormal digit morphology	7355	SLC35A2	ORPHA:356961
HP:0011297	Abnormal digit morphology	54968	TMEM70	ORPHA:1194
HP:0011297	Abnormal digit morphology	84466	MEGF10	OMIM:614399
HP:0011297	Abnormal digit morphology	10216	PRG4	ORPHA:2848
HP:0011297	Abnormal digit morphology	3508	IGHMBP2	OMIM:604320
HP:0011297	Abnormal digit morphology	10381	TUBB3	OMIM:600638
HP:0011297	Abnormal digit morphology	3423	IDS	ORPHA:217085
HP:0011297	Abnormal digit morphology	3423	IDS	ORPHA:217093
HP:0011297	Abnormal digit morphology	64127	NOD2	OMIM:186580
HP:0011297	Abnormal digit morphology	64127	NOD2	ORPHA:90340
HP:0011297	Abnormal digit morphology	3425	IDUA	OMIM:607015
HP:0011297	Abnormal digit morphology	3425	IDUA	ORPHA:93473
HP:0011297	Abnormal digit morphology	4593	MUSK	OMIM:208150
HP:0011297	Abnormal digit morphology	4593	MUSK	ORPHA:994
HP:0011297	Abnormal digit morphology	5189	PEX1	ORPHA:3220
HP:0011297	Abnormal digit morphology	5190	PEX6	ORPHA:3220
HP:0011297	Abnormal digit morphology	9719	ADAMTSL2	OMIM:231050
HP:0011297	Abnormal digit morphology	10466	COG5	ORPHA:263487
HP:0011297	Abnormal digit morphology	23102	TBC1D2B	OMIM:619323
HP:0011297	Abnormal digit morphology	2068	ERCC2	OMIM:610756
HP:0011297	Abnormal digit morphology	2068	ERCC2	ORPHA:1466
HP:0011297	Abnormal digit morphology	2074	ERCC6	ORPHA:1466
HP:0011297	Abnormal digit morphology	2073	ERCC5	ORPHA:1466
HP:0011297	Abnormal digit morphology	4927	NUP88	ORPHA:994
HP:0011297	Abnormal digit morphology	7846	TUBA1A	ORPHA:994
HP:0011297	Abnormal digit morphology	5913	RAPSN	ORPHA:994
HP:0011297	Abnormal digit morphology	6572	SLC18A3	ORPHA:994
HP:0011297	Abnormal digit morphology	285489	DOK7	ORPHA:994
HP:0011297	Abnormal digit morphology	9150	CTDP1	ORPHA:48431
HP:0011297	Abnormal digit morphology	23443	SLC35A3	OMIM:615553
HP:0011297	Abnormal digit morphology	25914	RTTN	ORPHA:468631
HP:0011297	Abnormal digit morphology	26092	TOR1AIP1	OMIM:617072
HP:0011297	Abnormal digit morphology	2212	FCGR2A	OMIM:219700
HP:0011297	Abnormal digit morphology	7040	TGFB1	OMIM:219700
HP:0011297	Abnormal digit morphology	3071	NCKAP1L	OMIM:618982
HP:0011297	Abnormal digit morphology	7015	TERT	OMIM:614742
HP:0011297	Abnormal digit morphology	7015	TERT	ORPHA:2032
HP:0011297	Abnormal digit morphology	7015	TERT	OMIM:178500
HP:0011297	Abnormal digit morphology	987	LRBA	OMIM:614700
HP:0011297	Abnormal digit morphology	729238	SFTPA2	ORPHA:2032
HP:0011297	Abnormal digit morphology	729238	SFTPA2	OMIM:178500
HP:0011297	Abnormal digit morphology	79991	STN1	ORPHA:2032
HP:0011297	Abnormal digit morphology	727897	MUC5B	ORPHA:2032
HP:0011297	Abnormal digit morphology	727897	MUC5B	OMIM:178500
HP:0011297	Abnormal digit morphology	10144	FAM13A	ORPHA:2032
HP:0011297	Abnormal digit morphology	23250	ATP11A	ORPHA:2032
HP:0011297	Abnormal digit morphology	91039	DPP9	ORPHA:2032
HP:0011297	Abnormal digit morphology	51750	RTEL1	ORPHA:2032
HP:0011297	Abnormal digit morphology	7012	TERC	ORPHA:2032
HP:0011297	Abnormal digit morphology	5073	PARN	ORPHA:2032
HP:0011297	Abnormal digit morphology	10804	GJB6	ORPHA:189
HP:0011297	Abnormal digit morphology	440275	EIF2AK4	ORPHA:199241
HP:0011297	Abnormal digit morphology	10568	SLC34A2	ORPHA:60025
HP:0011297	Abnormal digit morphology	8884	SLC5A6	OMIM:618973
HP:0011297	Abnormal digit morphology	10125	RASGRP1	OMIM:618534
HP:0011297	Abnormal digit morphology	59067	IL21	OMIM:615767
HP:0011297	Abnormal digit morphology	79651	RHBDF2	ORPHA:2198
HP:0011297	Abnormal digit morphology	7092	TLL1	ORPHA:99106
HP:0011297	Abnormal digit morphology	274	BIN1	ORPHA:169186
HP:0011297	Abnormal digit morphology	10290	SPEG	ORPHA:169186
HP:0011297	Abnormal digit morphology	6261	RYR1	ORPHA:169186
HP:0011297	Abnormal digit morphology	7273	TTN	ORPHA:169186
HP:0011297	Abnormal digit morphology	57459	GATAD2B	OMIM:615074
HP:0011297	Abnormal digit morphology	57459	GATAD2B	ORPHA:363686
HP:0011297	Abnormal digit morphology	1281	COL3A1	OMIM:618343
HP:0011297	Abnormal digit morphology	51520	LARS1	OMIM:615438
HP:0011297	Abnormal digit morphology	116931	MED12L	OMIM:618872
HP:0011297	Abnormal digit morphology	203068	TUBB	OMIM:156610
HP:0011297	Abnormal digit morphology	9772	TMEM94	OMIM:618316
HP:0011297	Abnormal digit morphology	79971	WLS	OMIM:619648
HP:0011297	Abnormal digit morphology	2556	GABRA3	OMIM:301091
HP:0011297	Abnormal digit morphology	5373	PMM2	ORPHA:79318
HP:0011297	Abnormal digit morphology	7528	YY1	OMIM:617557
HP:0011297	Abnormal digit morphology	55768	NGLY1	ORPHA:404454
HP:0011298	Prominent digit pad	8367	H4C5	OMIM:619950
HP:0011298	Prominent digit pad	10664	CTCF	ORPHA:363611
HP:0011298	Prominent digit pad	8260	NAA10	OMIM:309800
HP:0011298	Prominent digit pad	54880	BCOR	OMIM:309800
HP:0011298	Prominent digit pad	9853	RUSC2	OMIM:617773
HP:0011298	Prominent digit pad	5063	PAK3	OMIM:300558
HP:0011298	Prominent digit pad	1387	CREBBP	OMIM:180849
HP:0011298	Prominent digit pad	2033	EP300	OMIM:180849
HP:0011298	Prominent digit pad	2033	EP300	OMIM:613684
HP:0011298	Prominent digit pad	23394	ADNP	OMIM:615873
HP:0011298	Prominent digit pad	6228	RPS23	OMIM:617412
HP:0011298	Prominent digit pad	55628	ZNF407	OMIM:619557
HP:0011298	Prominent digit pad	91461	PKDCC	OMIM:618821
HP:0011298	Prominent digit pad	11133	KPTN	OMIM:615637
HP:0011298	Prominent digit pad	79718	TBL1XR1	OMIM:602342
HP:0011298	Prominent digit pad	79718	TBL1XR1	ORPHA:487825
HP:0011298	Prominent digit pad	284058	KANSL1	ORPHA:363965
HP:0011298	Prominent digit pad	284058	KANSL1	ORPHA:363958
HP:0011298	Prominent digit pad	284058	KANSL1	OMIM:610443
HP:0011298	Prominent digit pad	116931	MED12L	OMIM:618872
HP:0011298	Prominent digit pad	27086	FOXP1	ORPHA:391372
HP:0011298	Prominent digit pad	3021	H3-3B	OMIM:619721
HP:0011298	Prominent digit pad	28952	CCDC22	OMIM:300963
HP:0011298	Prominent digit pad	7025	NR2F1	OMIM:615722
HP:0011298	Prominent digit pad	9968	MED12	OMIM:305450
HP:0011298	Prominent digit pad	6925	TCF4	OMIM:610954
HP:0011298	Prominent digit pad	23065	EMC1	ORPHA:480898
HP:0011298	Prominent digit pad	23065	EMC1	OMIM:616875
HP:0011298	Prominent digit pad	4131	MAP1B	OMIM:618918
HP:0011298	Prominent digit pad	4784	NFIX	OMIM:602535
HP:0011298	Prominent digit pad	57492	ARID1B	OMIM:135900
HP:0011298	Prominent digit pad	57479	PRR12	OMIM:619539
HP:0011298	Prominent digit pad	64359	NXN	OMIM:618529
HP:0011298	Prominent digit pad	2146	EZH2	OMIM:277590
HP:0011298	Prominent digit pad	51322	WAC	ORPHA:466950
HP:0011298	Prominent digit pad	1105	CHD1	OMIM:617682
HP:0011298	Prominent digit pad	1822	ATN1	OMIM:618494
HP:0011298	Prominent digit pad	7403	KDM6A	OMIM:300867
HP:0011298	Prominent digit pad	7403	KDM6A	OMIM:147920
HP:0011298	Prominent digit pad	23036	ZNF292	OMIM:619188
HP:0011298	Prominent digit pad	3188	HNRNPH2	OMIM:300986
HP:0011298	Prominent digit pad	2702	GJA5	OMIM:612474
HP:0011298	Prominent digit pad	2703	GJA8	OMIM:612474
HP:0011298	Prominent digit pad	22907	DHX30	OMIM:617804
HP:0011298	Prominent digit pad	10522	DEAF1	OMIM:615828
HP:0011298	Prominent digit pad	3720	JARID2	OMIM:620098
HP:0011298	Prominent digit pad	8085	KMT2D	OMIM:147920
HP:0011298	Prominent digit pad	117581	TWIST2	OMIM:209885
HP:0011298	Prominent digit pad	4297	KMT2A	OMIM:605130
HP:0008237	Hypothalamic hypothyroidism	7200	TRH	OMIM:275120
HP:0008237	Hypothalamic hypothyroidism	8314	BAP1	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	4771	NF2	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	6598	SMARCB1	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	5155	PDGFB	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	84231	TRAF7	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	6608	SMO	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	207	AKT1	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	5290	PIK3CA	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	7015	TERT	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	51684	SUFU	ORPHA:2495
HP:0008237	Hypothalamic hypothyroidism	6605	SMARCE1	ORPHA:2495
HP:0008236	Isosexual precocious puberty	4041	LRP5	ORPHA:2788
HP:0008236	Isosexual precocious puberty	84634	KISS1R	OMIM:176400
HP:0008236	Isosexual precocious puberty	1584	CYP11B1	ORPHA:90795
HP:0008239	Adrenal medullary hypoplasia	51256	TBC1D7	OMIM:248000
HP:0010627	Anterior pituitary hypoplasia	8820	HESX1	OMIM:182230
HP:0010627	Anterior pituitary hypoplasia	8820	HESX1	ORPHA:226307
HP:0010627	Anterior pituitary hypoplasia	8820	HESX1	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	8820	HESX1	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	55599	RNPC3	OMIM:618160
HP:0010627	Anterior pituitary hypoplasia	4841	NONO	ORPHA:466791
HP:0010627	Anterior pituitary hypoplasia	9791	PTDSS1	OMIM:151050
HP:0010627	Anterior pituitary hypoplasia	55131	RBM28	ORPHA:157954
HP:0010627	Anterior pituitary hypoplasia	6638	SNRPN	ORPHA:177904
HP:0010627	Anterior pituitary hypoplasia	6638	SNRPN	ORPHA:177901
HP:0010627	Anterior pituitary hypoplasia	6638	SNRPN	ORPHA:177907
HP:0010627	Anterior pituitary hypoplasia	6638	SNRPN	ORPHA:98754
HP:0010627	Anterior pituitary hypoplasia	4692	NDN	ORPHA:177904
HP:0010627	Anterior pituitary hypoplasia	4692	NDN	ORPHA:177901
HP:0010627	Anterior pituitary hypoplasia	4692	NDN	ORPHA:98754
HP:0010627	Anterior pituitary hypoplasia	54551	MAGEL2	ORPHA:177904
HP:0010627	Anterior pituitary hypoplasia	54551	MAGEL2	ORPHA:177901
HP:0010627	Anterior pituitary hypoplasia	54551	MAGEL2	ORPHA:98754
HP:0010627	Anterior pituitary hypoplasia	4948	OCA2	ORPHA:177904
HP:0010627	Anterior pituitary hypoplasia	4948	OCA2	ORPHA:177901
HP:0010627	Anterior pituitary hypoplasia	4948	OCA2	ORPHA:98754
HP:0010627	Anterior pituitary hypoplasia	79989	IFT56	OMIM:619534
HP:0010627	Anterior pituitary hypoplasia	23312	DMXL2	ORPHA:453533
HP:0010627	Anterior pituitary hypoplasia	23312	DMXL2	OMIM:616113
HP:0010627	Anterior pituitary hypoplasia	5626	PROP1	ORPHA:226307
HP:0010627	Anterior pituitary hypoplasia	5626	PROP1	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	5626	PROP1	ORPHA:90695
HP:0010627	Anterior pituitary hypoplasia	89884	LHX4	ORPHA:226307
HP:0010627	Anterior pituitary hypoplasia	89884	LHX4	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	8022	LHX3	ORPHA:226307
HP:0010627	Anterior pituitary hypoplasia	8022	LHX3	OMIM:221750
HP:0010627	Anterior pituitary hypoplasia	8022	LHX3	ORPHA:231720
HP:0010627	Anterior pituitary hypoplasia	5449	POU1F1	ORPHA:226307
HP:0010627	Anterior pituitary hypoplasia	5449	POU1F1	OMIM:613038
HP:0010627	Anterior pituitary hypoplasia	5449	POU1F1	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	2688	GH1	OMIM:173100
HP:0010627	Anterior pituitary hypoplasia	57688	ZSWIM6	ORPHA:1827
HP:0010627	Anterior pituitary hypoplasia	2736	GLI2	OMIM:610829
HP:0010627	Anterior pituitary hypoplasia	2736	GLI2	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	2736	GLI2	OMIM:615849
HP:0010627	Anterior pituitary hypoplasia	3170	FOXA2	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	5015	OTX2	ORPHA:95494
HP:0010627	Anterior pituitary hypoplasia	5015	OTX2	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	4524	MTHFR	ORPHA:563612
HP:0010627	Anterior pituitary hypoplasia	57216	VANGL2	ORPHA:563612
HP:0010627	Anterior pituitary hypoplasia	6926	TBX3	OMIM:181450
HP:0010627	Anterior pituitary hypoplasia	8567	MADD	OMIM:619004
HP:0010627	Anterior pituitary hypoplasia	2692	GHRHR	OMIM:618157
HP:0010627	Anterior pituitary hypoplasia	283987	HID1	OMIM:619983
HP:0010627	Anterior pituitary hypoplasia	6658	SOX3	ORPHA:67045
HP:0010627	Anterior pituitary hypoplasia	6658	SOX3	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	6658	SOX3	ORPHA:90695
HP:0010627	Anterior pituitary hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0010627	Anterior pituitary hypoplasia	9915	ARNT2	OMIM:615926
HP:0010627	Anterior pituitary hypoplasia	9915	ARNT2	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	4990	SIX6	OMIM:206900
HP:0010627	Anterior pituitary hypoplasia	6657	SOX2	OMIM:206900
HP:0010627	Anterior pituitary hypoplasia	6657	SOX2	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	2260	FGFR1	ORPHA:3157
HP:0010627	Anterior pituitary hypoplasia	128674	PROKR2	ORPHA:3157
HP:0008216	Adrenal gland dysgenesis	219844	HYLS1	OMIM:236680
HP:0008216	Adrenal gland dysgenesis	7473	WNT3	OMIM:273395
HP:0008216	Adrenal gland dysgenesis	54361	WNT4	OMIM:611812
HP:0008240	Secondary growth hormone deficiency	64072	CDH23	ORPHA:91347
HP:0008240	Secondary growth hormone deficiency	64072	CDH23	ORPHA:2965
HP:0008240	Secondary growth hormone deficiency	2737	GLI3	ORPHA:672
HP:0008240	Secondary growth hormone deficiency	4221	MEN1	ORPHA:2965
HP:0008240	Secondary growth hormone deficiency	9049	AIP	ORPHA:2965
HP:0008240	Secondary growth hormone deficiency	8314	BAP1	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	4771	NF2	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	6598	SMARCB1	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	5155	PDGFB	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	84231	TRAF7	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	6608	SMO	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	207	AKT1	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	5290	PIK3CA	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	7015	TERT	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	51684	SUFU	ORPHA:2495
HP:0008240	Secondary growth hormone deficiency	6605	SMARCE1	ORPHA:2495
HP:0000836	Hyperthyroidism	291	SLC25A4	ORPHA:254892
HP:0000836	Hyperthyroidism	5428	POLG	ORPHA:254892
HP:0000836	Hyperthyroidism	56652	TWNK	ORPHA:254892
HP:0000836	Hyperthyroidism	11232	POLG2	ORPHA:254892
HP:0000836	Hyperthyroidism	50484	RRM2B	ORPHA:254892
HP:0000836	Hyperthyroidism	2332	FMR1	ORPHA:449291
HP:0000836	Hyperthyroidism	55154	MSTO1	OMIM:617675
HP:0000836	Hyperthyroidism	55154	MSTO1	ORPHA:502423
HP:0000836	Hyperthyroidism	2778	GNAS	OMIM:174800
HP:0000836	Hyperthyroidism	2778	GNAS	ORPHA:562
HP:0000836	Hyperthyroidism	7068	THRB	OMIM:145650
HP:0000836	Hyperthyroidism	50943	FOXP3	ORPHA:37042
HP:0000836	Hyperthyroidism	100134444	KCNJ18	OMIM:613239
HP:0000836	Hyperthyroidism	100134444	KCNJ18	ORPHA:79102
HP:0000836	Hyperthyroidism	7253	TSHR	ORPHA:99819
HP:0000836	Hyperthyroidism	7253	TSHR	ORPHA:424
HP:0000836	Hyperthyroidism	7253	TSHR	OMIM:609152
HP:0000836	Hyperthyroidism	7253	TSHR	OMIM:603373
HP:0000836	Hyperthyroidism	3759	KCNJ2	OMIM:170390
HP:0000836	Hyperthyroidism	2556	GABRA3	ORPHA:79102
HP:0000836	Hyperthyroidism	779	CACNA1S	ORPHA:79102
HP:0000836	Hyperthyroidism	779	CACNA1S	OMIM:188580
HP:0000836	Hyperthyroidism	1312	COMT	ORPHA:567
HP:0000836	Hyperthyroidism	221037	JMJD1C	ORPHA:567
HP:0000836	Hyperthyroidism	2812	GP1BB	ORPHA:567
HP:0000836	Hyperthyroidism	6239	RREB1	ORPHA:567
HP:0000836	Hyperthyroidism	6899	TBX1	ORPHA:567
HP:0000836	Hyperthyroidism	7290	HIRA	ORPHA:567
HP:0000836	Hyperthyroidism	9632	SEC24C	ORPHA:567
HP:0000836	Hyperthyroidism	7353	UFD1	ORPHA:567
HP:0000836	Hyperthyroidism	421	ARVCF	ORPHA:567
HP:0000836	Hyperthyroidism	79783	SUGCT	OMIM:231690
HP:0000836	Hyperthyroidism	5728	PTEN	OMIM:158350
HP:0000836	Hyperthyroidism	93627	TBCK	ORPHA:488632
HP:0000836	Hyperthyroidism	5290	PIK3CA	OMIM:615108
HP:0000836	Hyperthyroidism	207	AKT1	OMIM:615109
HP:0000836	Hyperthyroidism	9817	KEAP1	ORPHA:276399
HP:0000836	Hyperthyroidism	23405	DICER1	ORPHA:276399
HP:0000836	Hyperthyroidism	11128	POLR3A	ORPHA:3455
HP:0000836	Hyperthyroidism	56244	BTNL2	ORPHA:797
HP:0000836	Hyperthyroidism	3123	HLA-DRB1	ORPHA:797
HP:0000836	Hyperthyroidism	64072	CDH23	ORPHA:91347
HP:0000836	Hyperthyroidism	1188	CLCNKB	ORPHA:358
HP:0000836	Hyperthyroidism	6559	SLC12A3	ORPHA:358
HP:0008244	Congenital adrenal hypoplasia	4000	LMNA	ORPHA:1662
HP:0008244	Congenital adrenal hypoplasia	10269	ZMPSTE24	ORPHA:1662
HP:0008244	Congenital adrenal hypoplasia	5426	POLE	OMIM:618336
HP:0001080	Biliary tract abnormality	157570	ESCO2	OMIM:268300
HP:0001080	Biliary tract abnormality	1244	ABCC2	ORPHA:234
HP:0001080	Biliary tract abnormality	1244	ABCC2	OMIM:237500
HP:0001080	Biliary tract abnormality	6928	HNF1B	OMIM:137920
HP:0001080	Biliary tract abnormality	145173	B3GLCT	OMIM:261540
HP:0001080	Biliary tract abnormality	84100	ARL6	OMIM:209900
HP:0001080	Biliary tract abnormality	79140	CCDC28B	OMIM:209900
HP:0001080	Biliary tract abnormality	582	BBS1	OMIM:209900
HP:0001080	Biliary tract abnormality	53834	FGFRL1	OMIM:194190
HP:0001080	Biliary tract abnormality	1487	CTBP1	OMIM:194190
HP:0001080	Biliary tract abnormality	3954	LETM1	OMIM:194190
HP:0001080	Biliary tract abnormality	7468	NSD2	OMIM:194190
HP:0001080	Biliary tract abnormality	10815	CPLX1	OMIM:194190
HP:0001080	Biliary tract abnormality	54658	UGT1A1	ORPHA:79234
HP:0001080	Biliary tract abnormality	80270	HSD3B7	ORPHA:79301
HP:0001080	Biliary tract abnormality	5828	PEX2	OMIM:614866
HP:0001080	Biliary tract abnormality	5830	PEX5	OMIM:214110
HP:0001080	Biliary tract abnormality	5189	PEX1	OMIM:214100
HP:0001080	Biliary tract abnormality	57545	CC2D2A	OMIM:612284
HP:0001080	Biliary tract abnormality	125988	MICOS13	OMIM:618329
HP:0001080	Biliary tract abnormality	80184	CEP290	OMIM:611134
HP:0001080	Biliary tract abnormality	57539	WDR35	OMIM:613610
HP:0001080	Biliary tract abnormality	3295	HSD17B4	OMIM:261515
HP:0001080	Biliary tract abnormality	9420	CYP7B1	OMIM:613812
HP:0001080	Biliary tract abnormality	9420	CYP7B1	ORPHA:79302
HP:0001080	Biliary tract abnormality	10056	FARSB	OMIM:613658
HP:0001080	Biliary tract abnormality	5428	POLG	OMIM:203700
HP:0001080	Biliary tract abnormality	27031	NPHP3	OMIM:267010
HP:0001080	Biliary tract abnormality	27031	NPHP3	OMIM:208540
HP:0001080	Biliary tract abnormality	54903	MKS1	OMIM:249000
HP:0001080	Biliary tract abnormality	23322	RPGRIP1L	OMIM:611561
HP:0001080	Biliary tract abnormality	5261	PHKG2	OMIM:613027
HP:0001080	Biliary tract abnormality	2542	SLC37A4	OMIM:619525
HP:0001080	Biliary tract abnormality	51259	TMEM216	OMIM:603194
HP:0001080	Biliary tract abnormality	2212	FCGR2A	OMIM:219700
HP:0001080	Biliary tract abnormality	7040	TGFB1	OMIM:219700
HP:0001080	Biliary tract abnormality	1080	CFTR	OMIM:219700
HP:0001080	Biliary tract abnormality	3930	LBR	OMIM:613471
HP:0001080	Biliary tract abnormality	3875	KRT18	OMIM:215600
HP:0001080	Biliary tract abnormality	2629	GBA1	ORPHA:77259
HP:0001080	Biliary tract abnormality	950	SCARB2	ORPHA:77259
HP:0001080	Biliary tract abnormality	9361	LONP1	ORPHA:1458
HP:0001080	Biliary tract abnormality	56623	INPP5E	ORPHA:1454
HP:0001080	Biliary tract abnormality	26123	TCTN3	OMIM:614815
HP:0001080	Biliary tract abnormality	26276	VPS33B	OMIM:208085
HP:0001080	Biliary tract abnormality	2627	GATA6	OMIM:600001
HP:0001080	Biliary tract abnormality	2627	GATA6	ORPHA:2255
HP:0001080	Biliary tract abnormality	222546	RFX6	OMIM:615710
HP:0001080	Biliary tract abnormality	7547	ZIC3	OMIM:306955
HP:0001080	Biliary tract abnormality	2072	ERCC4	OMIM:615272
HP:0001080	Biliary tract abnormality	54914	FOCAD	OMIM:619991
HP:0001080	Biliary tract abnormality	182	JAG1	OMIM:118450
HP:0001080	Biliary tract abnormality	55788	LMBRD1	ORPHA:79284
HP:0001080	Biliary tract abnormality	5195	PEX14	OMIM:614887
HP:0001080	Biliary tract abnormality	4000	LMNA	ORPHA:363618
HP:0001080	Biliary tract abnormality	3594	IL12RB1	ORPHA:186
HP:0001080	Biliary tract abnormality	23534	TNPO3	ORPHA:186
HP:0001080	Biliary tract abnormality	3592	IL12A	ORPHA:186
HP:0001080	Biliary tract abnormality	6689	SPIB	ORPHA:186
HP:0001080	Biliary tract abnormality	5450	POU2AF1	ORPHA:186
HP:0001080	Biliary tract abnormality	9966	TNFSF15	ORPHA:186
HP:0001080	Biliary tract abnormality	79258	MMEL1	ORPHA:186
HP:0001080	Biliary tract abnormality	3663	IRF5	ORPHA:186
HP:0001080	Biliary tract abnormality	199221	DZIP1L	ORPHA:731
HP:0001080	Biliary tract abnormality	5314	PKHD1	ORPHA:731
HP:0001080	Biliary tract abnormality	6718	AKR1D1	ORPHA:79303
HP:0001080	Biliary tract abnormality	2642	GCGR	ORPHA:438274
HP:0001080	Biliary tract abnormality	9742	IFT140	OMIM:266920
HP:0001080	Biliary tract abnormality	50615	IL21R	OMIM:615207
HP:0001080	Biliary tract abnormality	26525	IL36RN	OMIM:614204
HP:0001080	Biliary tract abnormality	83737	ITCH	ORPHA:228426
HP:0001080	Biliary tract abnormality	617	BCS1L	OMIM:124000
HP:0001080	Biliary tract abnormality	3514	IGKC	ORPHA:183675
HP:0001080	Biliary tract abnormality	3501	IGHG2	ORPHA:183675
HP:0001080	Biliary tract abnormality	654	BMP6	ORPHA:465508
HP:0001080	Biliary tract abnormality	3077	HFE	ORPHA:465508
HP:0001080	Biliary tract abnormality	9076	CLDN1	OMIM:607626
HP:0001080	Biliary tract abnormality	5994	RFXAP	ORPHA:572
HP:0001080	Biliary tract abnormality	4261	CIITA	ORPHA:572
HP:0001080	Biliary tract abnormality	5993	RFX5	ORPHA:572
HP:0001080	Biliary tract abnormality	8625	RFXANK	ORPHA:572
HP:0001080	Biliary tract abnormality	5966	REL	OMIM:619652
HP:0001080	Biliary tract abnormality	5244	ABCB4	ORPHA:69663
HP:0001080	Biliary tract abnormality	51473	DCDC2	OMIM:617394
HP:0001080	Biliary tract abnormality	959	CD40LG	OMIM:308230
HP:0001080	Biliary tract abnormality	113220	KIF12	OMIM:619662
HP:0001080	Biliary tract abnormality	9968	MED12	OMIM:301068
HP:0001080	Biliary tract abnormality	91147	TMEM67	OMIM:216360
HP:0001080	Biliary tract abnormality	57728	WDR19	OMIM:614377
HP:0001080	Biliary tract abnormality	57728	WDR19	OMIM:616307
HP:0001080	Biliary tract abnormality	9371	KIF3B	OMIM:618955
HP:0001080	Biliary tract abnormality	79989	IFT56	OMIM:619534
HP:0001080	Biliary tract abnormality	84936	ZFYVE19	OMIM:619849
HP:0001080	Biliary tract abnormality	672	BRCA1	ORPHA:70567
HP:0001080	Biliary tract abnormality	675	BRCA2	ORPHA:70567
HP:0001080	Biliary tract abnormality	5774	PTPN3	ORPHA:70567
HP:0001080	Biliary tract abnormality	6794	STK11	ORPHA:2869
HP:0001080	Biliary tract abnormality	54894	RNF43	ORPHA:157798
HP:0001080	Biliary tract abnormality	410	ARSA	ORPHA:309271
HP:0001080	Biliary tract abnormality	5660	PSAP	ORPHA:309271
HP:0001080	Biliary tract abnormality	2859	GPR35	ORPHA:171
HP:0001080	Biliary tract abnormality	10507	SEMA4D	ORPHA:171
HP:0001080	Biliary tract abnormality	4485	MST1	ORPHA:171
HP:0001080	Biliary tract abnormality	6925	TCF4	ORPHA:171
HP:0001080	Biliary tract abnormality	5297	PI4KA	ORPHA:436252
HP:0001080	Biliary tract abnormality	57217	TTC7A	ORPHA:436252
HP:0001080	Biliary tract abnormality	11198	SUPT16H	OMIM:619480
HP:0001080	Biliary tract abnormality	8239	USP9X	ORPHA:480880
HP:0001081	Cholelithiasis	27183	VPS4A	OMIM:619273
HP:0001081	Cholelithiasis	2235	FECH	OMIM:177000
HP:0001081	Cholelithiasis	2235	FECH	ORPHA:79278
HP:0001081	Cholelithiasis	57003	CCDC47	OMIM:618268
HP:0001081	Cholelithiasis	212	ALAS2	OMIM:300752
HP:0001081	Cholelithiasis	1593	CYP27A1	ORPHA:909
HP:0001081	Cholelithiasis	1593	CYP27A1	OMIM:213700
HP:0001081	Cholelithiasis	7167	TPI1	OMIM:615512
HP:0001081	Cholelithiasis	6804	STX1A	ORPHA:904
HP:0001081	Cholelithiasis	7461	CLIP2	ORPHA:904
HP:0001081	Cholelithiasis	84277	DNAJC30	ORPHA:904
HP:0001081	Cholelithiasis	8468	FKBP6	ORPHA:904
HP:0001081	Cholelithiasis	5982	RFC2	ORPHA:904
HP:0001081	Cholelithiasis	2969	GTF2I	ORPHA:904
HP:0001081	Cholelithiasis	3984	LIMK1	ORPHA:904
HP:0001081	Cholelithiasis	9569	GTF2IRD1	ORPHA:904
HP:0001081	Cholelithiasis	155382	VPS37D	ORPHA:904
HP:0001081	Cholelithiasis	155368	METTL27	ORPHA:904
HP:0001081	Cholelithiasis	114049	BUD23	ORPHA:904
HP:0001081	Cholelithiasis	7458	EIF4H	ORPHA:904
HP:0001081	Cholelithiasis	84163	GTF2IRD2	ORPHA:904
HP:0001081	Cholelithiasis	9275	BCL7B	ORPHA:904
HP:0001081	Cholelithiasis	26608	TBL2	ORPHA:904
HP:0001081	Cholelithiasis	653361	NCF1	ORPHA:904
HP:0001081	Cholelithiasis	135886	TMEM270	ORPHA:904
HP:0001081	Cholelithiasis	51085	MLXIPL	ORPHA:904
HP:0001081	Cholelithiasis	9031	BAZ1B	ORPHA:904
HP:0001081	Cholelithiasis	2006	ELN	ORPHA:904
HP:0001081	Cholelithiasis	5205	ATP8B1	OMIM:211600
HP:0001081	Cholelithiasis	9780	PIEZO1	OMIM:194380
HP:0001081	Cholelithiasis	9780	PIEZO1	ORPHA:3202
HP:0001081	Cholelithiasis	5314	PKHD1	ORPHA:53035
HP:0001081	Cholelithiasis	286	ANK1	OMIM:182900
HP:0001081	Cholelithiasis	286	ANK1	ORPHA:822
HP:0001081	Cholelithiasis	2038	EPB42	ORPHA:822
HP:0001081	Cholelithiasis	6521	SLC4A1	ORPHA:822
HP:0001081	Cholelithiasis	6521	SLC4A1	ORPHA:3202
HP:0001081	Cholelithiasis	6710	SPTB	ORPHA:822
HP:0001081	Cholelithiasis	6710	SPTB	ORPHA:288
HP:0001081	Cholelithiasis	6708	SPTA1	ORPHA:822
HP:0001081	Cholelithiasis	6708	SPTA1	ORPHA:288
HP:0001081	Cholelithiasis	6340	SCNN1G	ORPHA:171876
HP:0001081	Cholelithiasis	6337	SCNN1A	ORPHA:171876
HP:0001081	Cholelithiasis	6338	SCNN1B	ORPHA:171876
HP:0001081	Cholelithiasis	2642	GCGR	ORPHA:438274
HP:0001081	Cholelithiasis	10483	SEC23B	OMIM:224100
HP:0001081	Cholelithiasis	3098	HK1	OMIM:235700
HP:0001081	Cholelithiasis	644	BLVRA	OMIM:614156
HP:0001081	Cholelithiasis	226	ALDOA	OMIM:611881
HP:0001081	Cholelithiasis	23600	AMACR	ORPHA:79095
HP:0001081	Cholelithiasis	1760	DMPK	OMIM:160900
HP:0001081	Cholelithiasis	2658	GDF2	ORPHA:774
HP:0001081	Cholelithiasis	94	ACVRL1	ORPHA:774
HP:0001081	Cholelithiasis	4089	SMAD4	ORPHA:774
HP:0001081	Cholelithiasis	2022	ENG	ORPHA:774
HP:0001081	Cholelithiasis	7030	TFE3	OMIM:301066
HP:0001081	Cholelithiasis	6609	SMPD1	ORPHA:77293
HP:0001081	Cholelithiasis	8242	KDM5C	OMIM:300534
HP:0001081	Cholelithiasis	7390	UROS	OMIM:263700
HP:0001081	Cholelithiasis	2859	GPR35	ORPHA:171
HP:0001081	Cholelithiasis	10507	SEMA4D	ORPHA:171
HP:0001081	Cholelithiasis	4485	MST1	ORPHA:171
HP:0001081	Cholelithiasis	6925	TCF4	ORPHA:171
HP:0001081	Cholelithiasis	326	AIRE	OMIM:240300
HP:0001081	Cholelithiasis	2629	GBA1	ORPHA:2072
HP:0001081	Cholelithiasis	5213	PFKM	OMIM:232800
HP:0001081	Cholelithiasis	81857	MED25	ORPHA:464738
HP:0001081	Cholelithiasis	5824	PEX19	OMIM:614886
HP:0001081	Cholelithiasis	10020	GNE	ORPHA:3166
HP:0001081	Cholelithiasis	1312	COMT	ORPHA:567
HP:0001081	Cholelithiasis	221037	JMJD1C	ORPHA:567
HP:0001081	Cholelithiasis	2812	GP1BB	ORPHA:567
HP:0001081	Cholelithiasis	6239	RREB1	ORPHA:567
HP:0001081	Cholelithiasis	6899	TBX1	ORPHA:567
HP:0001081	Cholelithiasis	6899	TBX1	OMIM:188400
HP:0001081	Cholelithiasis	7290	HIRA	ORPHA:567
HP:0001081	Cholelithiasis	9632	SEC24C	ORPHA:567
HP:0001081	Cholelithiasis	7353	UFD1	ORPHA:567
HP:0001081	Cholelithiasis	421	ARVCF	ORPHA:567
HP:0001081	Cholelithiasis	3783	KCNN4	ORPHA:3202
HP:0001081	Cholelithiasis	2035	EPB41	ORPHA:288
HP:0001081	Cholelithiasis	2995	GYPC	ORPHA:288
HP:0001081	Cholelithiasis	5313	PKLR	OMIM:266200
HP:0001081	Cholelithiasis	171023	ASXL1	ORPHA:97297
HP:0001081	Cholelithiasis	8647	ABCB11	OMIM:605479
HP:0001081	Cholelithiasis	7386	UQCRFS1	OMIM:618775
HP:0001081	Cholelithiasis	64241	ABCG8	OMIM:611465
HP:0001081	Cholelithiasis	5244	ABCB4	OMIM:600803
HP:0001081	Cholelithiasis	1581	CYP7A1	ORPHA:209902
HP:0001081	Cholelithiasis	3043	HBB	ORPHA:232
HP:0001081	Cholelithiasis	2821	GPI	OMIM:613470
HP:0001082	Cholecystitis	2658	GDF2	ORPHA:774
HP:0001082	Cholecystitis	94	ACVRL1	ORPHA:774
HP:0001082	Cholecystitis	4089	SMAD4	ORPHA:774
HP:0001082	Cholecystitis	2022	ENG	ORPHA:774
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309271
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309256
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309263
HP:0001082	Cholecystitis	410	ARSA	OMIM:250100
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309271
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309256
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309263
HP:0001082	Cholecystitis	7030	TFE3	OMIM:301066
HP:0001082	Cholecystitis	811	CALR	ORPHA:131
HP:0001082	Cholecystitis	3717	JAK2	ORPHA:131
HP:0001082	Cholecystitis	2153	F5	ORPHA:131
HP:0001082	Cholecystitis	2821	GPI	OMIM:613470
HP:0001082	Cholecystitis	7167	TPI1	OMIM:615512
HP:0001082	Cholecystitis	57104	PNPLA2	ORPHA:98908
HP:0001082	Cholecystitis	3514	IGKC	ORPHA:183675
HP:0001082	Cholecystitis	3501	IGHG2	ORPHA:183675
HP:0001082	Cholecystitis	5313	PKLR	OMIM:266200
HP:0001082	Cholecystitis	5244	ABCB4	ORPHA:69663
HP:0001082	Cholecystitis	5244	ABCB4	OMIM:600803
HP:0001082	Cholecystitis	5244	ABCB4	ORPHA:69665
HP:0001082	Cholecystitis	5205	ATP8B1	ORPHA:69665
HP:0001082	Cholecystitis	8647	ABCB11	ORPHA:69665
HP:0001082	Cholecystitis	9971	NR1H4	ORPHA:69665
HP:0001082	Cholecystitis	3098	HK1	OMIM:235700
HP:0001082	Cholecystitis	226	ALDOA	OMIM:611881
HP:0001082	Cholecystitis	4204	MECP2	ORPHA:778
HP:0001085	Papilledema	50964	SOST	OMIM:269500
HP:0001085	Papilledema	50964	SOST	OMIM:122860
HP:0001085	Papilledema	7428	VHL	ORPHA:892
HP:0001085	Papilledema	595	CCND1	ORPHA:892
HP:0001085	Papilledema	26160	IFT172	OMIM:619471
HP:0001085	Papilledema	2629	GBA1	ORPHA:2072
HP:0001085	Papilledema	3423	IDS	OMIM:309900
HP:0001085	Papilledema	3423	IDS	ORPHA:217085
HP:0001085	Papilledema	3423	IDS	ORPHA:217093
HP:0001085	Papilledema	3590	IL11RA	OMIM:614188
HP:0001085	Papilledema	7157	TP53	OMIM:260500
HP:0001085	Papilledema	324	APC	ORPHA:99818
HP:0001085	Papilledema	8314	BAP1	ORPHA:2495
HP:0001085	Papilledema	4771	NF2	ORPHA:2495
HP:0001085	Papilledema	6598	SMARCB1	ORPHA:2495
HP:0001085	Papilledema	5155	PDGFB	ORPHA:2495
HP:0001085	Papilledema	84231	TRAF7	ORPHA:2495
HP:0001085	Papilledema	6608	SMO	ORPHA:2495
HP:0001085	Papilledema	207	AKT1	ORPHA:2495
HP:0001085	Papilledema	5290	PIK3CA	ORPHA:2495
HP:0001085	Papilledema	7015	TERT	ORPHA:2495
HP:0001085	Papilledema	51684	SUFU	ORPHA:2495
HP:0001085	Papilledema	6605	SMARCE1	ORPHA:2495
HP:0001085	Papilledema	63901	FAM111A	OMIM:127000
HP:0001085	Papilledema	63901	FAM111A	ORPHA:93325
HP:0001085	Papilledema	6522	SLC4A2	OMIM:620366
HP:0001085	Papilledema	4313	MMP2	ORPHA:371428
HP:0001085	Papilledema	4323	MMP14	ORPHA:371428
HP:0001085	Papilledema	7386	UQCRFS1	OMIM:618775
HP:0001085	Papilledema	114548	NLRP3	OMIM:607115
HP:0001085	Papilledema	1499	CTNNB1	ORPHA:54595
HP:0001085	Papilledema	673	BRAF	ORPHA:54595
HP:0001112	Leber optic atrophy	4514	MT-CO3	OMIM:535000
HP:0001112	Leber optic atrophy	4519	MT-CYB	OMIM:535000
HP:0001112	Leber optic atrophy	4541	MT-ND6	OMIM:535000
HP:0001112	Leber optic atrophy	4540	MT-ND5	OMIM:535000
HP:0001112	Leber optic atrophy	4508	MT-ATP6	OMIM:535000
HP:0001112	Leber optic atrophy	4539	MT-ND4L	OMIM:535000
HP:0001112	Leber optic atrophy	4535	MT-ND1	OMIM:535000
HP:0001112	Leber optic atrophy	4536	MT-ND2	OMIM:535000
HP:0001112	Leber optic atrophy	4538	MT-ND4	OMIM:535000
HP:0001112	Leber optic atrophy	4007	PRICKLE3	OMIM:308905
HP:0001087	Developmental glaucoma	7837	PXDN	OMIM:269400
HP:0001087	Developmental glaucoma	2776	GNAQ	OMIM:185300
HP:0001087	Developmental glaucoma	220202	ATOH7	OMIM:221900
HP:0001087	Developmental glaucoma	220202	ATOH7	ORPHA:91495
HP:0001087	Developmental glaucoma	29954	POMT2	OMIM:613150
HP:0001087	Developmental glaucoma	29954	POMT2	OMIM:236670
HP:0001087	Developmental glaucoma	2530	FUT8	OMIM:618005
HP:0001087	Developmental glaucoma	54892	NCAPG2	OMIM:618460
HP:0001087	Developmental glaucoma	92949	ADAMTSL1	ORPHA:521445
HP:0001087	Developmental glaucoma	7291	TWIST1	OMIM:101400
HP:0001087	Developmental glaucoma	2263	FGFR2	OMIM:101400
HP:0001087	Developmental glaucoma	4081	MAB21L1	OMIM:618479
HP:0001087	Developmental glaucoma	1605	DAG1	OMIM:616538
HP:0001087	Developmental glaucoma	1605	DAG1	ORPHA:370997
HP:0001087	Developmental glaucoma	55624	POMGNT1	OMIM:253280
HP:0001087	Developmental glaucoma	4693	NDP	OMIM:310600
HP:0001087	Developmental glaucoma	4693	NDP	ORPHA:91495
HP:0001087	Developmental glaucoma	8322	FZD4	ORPHA:91495
HP:0001087	Developmental glaucoma	4990	SIX6	OMIM:212550
HP:0001087	Developmental glaucoma	4952	OCRL	ORPHA:534
HP:0001087	Developmental glaucoma	4053	LTBP2	OMIM:251750
HP:0001087	Developmental glaucoma	9215	LARGE1	OMIM:236670
HP:0001087	Developmental glaucoma	79147	FKRP	OMIM:236670
HP:0001087	Developmental glaucoma	10585	POMT1	OMIM:236670
HP:0001087	Developmental glaucoma	2218	FKTN	OMIM:236670
HP:0001087	Developmental glaucoma	5728	PTEN	ORPHA:744
HP:0001087	Developmental glaucoma	207	AKT1	ORPHA:744
HP:0001087	Developmental glaucoma	9469	CHST3	OMIM:245600
HP:0001087	Developmental glaucoma	26229	B3GAT3	OMIM:245600
HP:0001087	Developmental glaucoma	6135	RPL11	ORPHA:124
HP:0001087	Developmental glaucoma	6138	RPL15	ORPHA:124
HP:0001087	Developmental glaucoma	6229	RPS24	ORPHA:124
HP:0001087	Developmental glaucoma	6125	RPL5	ORPHA:124
HP:0001087	Developmental glaucoma	6204	RPS10	ORPHA:124
HP:0001087	Developmental glaucoma	6224	RPS20	ORPHA:124
HP:0001087	Developmental glaucoma	6165	RPL35A	ORPHA:124
HP:0001087	Developmental glaucoma	2623	GATA1	ORPHA:124
HP:0001087	Developmental glaucoma	6223	RPS19	ORPHA:124
HP:0001087	Developmental glaucoma	6232	RPS27	ORPHA:124
HP:0001087	Developmental glaucoma	6231	RPS26	ORPHA:124
HP:0001087	Developmental glaucoma	11224	RPL35	ORPHA:124
HP:0001087	Developmental glaucoma	6160	RPL31	ORPHA:124
HP:0001087	Developmental glaucoma	6218	RPS17	ORPHA:124
HP:0001087	Developmental glaucoma	6201	RPS7	ORPHA:124
HP:0001087	Developmental glaucoma	6155	RPL27	ORPHA:124
HP:0001087	Developmental glaucoma	6154	RPL26	ORPHA:124
HP:0001087	Developmental glaucoma	6210	RPS15A	ORPHA:124
HP:0001087	Developmental glaucoma	90121	TSR2	ORPHA:124
HP:0001087	Developmental glaucoma	6141	RPL18	ORPHA:124
HP:0001087	Developmental glaucoma	6235	RPS29	ORPHA:124
HP:0001087	Developmental glaucoma	6234	RPS28	ORPHA:124
HP:0001087	Developmental glaucoma	51816	ADA2	ORPHA:124
HP:0001087	Developmental glaucoma	285590	SH3PXD2B	OMIM:249420
HP:0001087	Developmental glaucoma	389692	MAFA	OMIM:147630
HP:0001087	Developmental glaucoma	6736	SRY	ORPHA:1772
HP:0001087	Developmental glaucoma	169792	GLIS3	OMIM:610199
HP:0001087	Developmental glaucoma	5831	PYCR1	OMIM:614438
HP:0001087	Developmental glaucoma	5080	PAX6	ORPHA:708
HP:0001087	Developmental glaucoma	2301	FOXE3	ORPHA:708
HP:0001087	Developmental glaucoma	5308	PITX2	ORPHA:708
HP:0001087	Developmental glaucoma	2296	FOXC1	ORPHA:708
HP:0001087	Developmental glaucoma	81846	SBF2	ORPHA:99956
HP:0001087	Developmental glaucoma	10535	RNASEH2A	ORPHA:51
HP:0001087	Developmental glaucoma	84153	RNASEH2C	ORPHA:51
HP:0001087	Developmental glaucoma	25939	SAMHD1	ORPHA:51
HP:0001087	Developmental glaucoma	79621	RNASEH2B	ORPHA:51
HP:0001087	Developmental glaucoma	103	ADAR	ORPHA:51
HP:0001087	Developmental glaucoma	11277	TREX1	ORPHA:51
HP:0001087	Developmental glaucoma	100147744	RNU7-1	ORPHA:51
HP:0001087	Developmental glaucoma	134353	LSM11	ORPHA:51
HP:0001087	Developmental glaucoma	64135	IFIH1	ORPHA:51
HP:0001087	Developmental glaucoma	124583	CANT1	OMIM:251450
HP:0001087	Developmental glaucoma	2316	FLNA	ORPHA:90652
HP:0001087	Developmental glaucoma	4010	LMX1B	ORPHA:2614
HP:0001087	Developmental glaucoma	7010	TEK	OMIM:600975
HP:0001087	Developmental glaucoma	1545	CYP1B1	OMIM:231300
HP:0001088	Brushfield spots	57479	PRR12	OMIM:619539
HP:0001088	Brushfield spots	5828	PEX2	OMIM:614866
HP:0001088	Brushfield spots	5828	PEX2	ORPHA:912
HP:0001088	Brushfield spots	55670	PEX26	ORPHA:912
HP:0001088	Brushfield spots	5824	PEX19	ORPHA:912
HP:0001088	Brushfield spots	8504	PEX3	ORPHA:912
HP:0001088	Brushfield spots	8799	PEX11B	ORPHA:912
HP:0001088	Brushfield spots	9409	PEX16	ORPHA:912
HP:0001088	Brushfield spots	5190	PEX6	ORPHA:912
HP:0001088	Brushfield spots	5830	PEX5	ORPHA:912
HP:0001088	Brushfield spots	5830	PEX5	OMIM:214110
HP:0001088	Brushfield spots	5189	PEX1	ORPHA:912
HP:0001088	Brushfield spots	5189	PEX1	OMIM:214100
HP:0001088	Brushfield spots	5193	PEX12	ORPHA:912
HP:0001088	Brushfield spots	5194	PEX13	ORPHA:912
HP:0001088	Brushfield spots	5195	PEX14	ORPHA:912
HP:0001088	Brushfield spots	5192	PEX10	ORPHA:912
HP:0001088	Brushfield spots	2623	GATA1	OMIM:190685
HP:0001089	Iris atrophy	444	ASPH	OMIM:601552
HP:0001089	Iris atrophy	58495	OVOL2	OMIM:122000
HP:0001089	Iris atrophy	9839	ZEB2	ORPHA:261552
HP:0001089	Iris atrophy	4041	LRP5	OMIM:259770
HP:0001089	Iris atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001089	Iris atrophy	27235	COQ2	OMIM:146500
HP:0008245	Pituitary hypothyroidism	2737	GLI3	ORPHA:672
HP:0008245	Pituitary hypothyroidism	55131	RBM28	ORPHA:157954
HP:0008245	Pituitary hypothyroidism	5626	PROP1	ORPHA:226307
HP:0008245	Pituitary hypothyroidism	5626	PROP1	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	5626	PROP1	ORPHA:90695
HP:0008245	Pituitary hypothyroidism	89884	LHX4	ORPHA:226307
HP:0008245	Pituitary hypothyroidism	89884	LHX4	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	8022	LHX3	ORPHA:226307
HP:0008245	Pituitary hypothyroidism	8022	LHX3	ORPHA:231720
HP:0008245	Pituitary hypothyroidism	5449	POU1F1	ORPHA:226307
HP:0008245	Pituitary hypothyroidism	5449	POU1F1	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	8820	HESX1	ORPHA:226307
HP:0008245	Pituitary hypothyroidism	8820	HESX1	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	5122	PCSK1	ORPHA:71528
HP:0008245	Pituitary hypothyroidism	3953	LEPR	OMIM:614963
HP:0008245	Pituitary hypothyroidism	3953	LEPR	ORPHA:179494
HP:0008245	Pituitary hypothyroidism	8314	BAP1	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	4771	NF2	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	6598	SMARCB1	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	5155	PDGFB	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	84231	TRAF7	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	6608	SMO	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	207	AKT1	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	5290	PIK3CA	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	7015	TERT	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	51684	SUFU	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	6605	SMARCE1	ORPHA:2495
HP:0008245	Pituitary hypothyroidism	5443	POMC	ORPHA:71526
HP:0008245	Pituitary hypothyroidism	91147	TMEM67	OMIM:602152
HP:0008245	Pituitary hypothyroidism	7201	TRHR	ORPHA:99832
HP:0008245	Pituitary hypothyroidism	2736	GLI2	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	3170	FOXA2	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	5015	OTX2	ORPHA:95494
HP:0008245	Pituitary hypothyroidism	283987	HID1	OMIM:619983
HP:0008245	Pituitary hypothyroidism	4221	MEN1	ORPHA:2965
HP:0008245	Pituitary hypothyroidism	64072	CDH23	ORPHA:2965
HP:0008245	Pituitary hypothyroidism	9049	AIP	ORPHA:2965
HP:0008245	Pituitary hypothyroidism	3952	LEP	ORPHA:66628
HP:0008245	Pituitary hypothyroidism	9915	ARNT2	OMIM:615926
HP:0008245	Pituitary hypothyroidism	6658	SOX3	ORPHA:90695
HP:0008245	Pituitary hypothyroidism	7252	TSHB	ORPHA:90674
HP:0008245	Pituitary hypothyroidism	5456	POU3F4	ORPHA:1435
HP:0008245	Pituitary hypothyroidism	1499	CTNNB1	ORPHA:54595
HP:0008245	Pituitary hypothyroidism	673	BRAF	ORPHA:54595
HP:0008249	Thyroid hyperplasia	5573	PRKAR1A	OMIM:160980
HP:0008249	Thyroid hyperplasia	7253	TSHR	OMIM:609152
HP:0008249	Thyroid hyperplasia	7253	TSHR	ORPHA:99819
HP:0008249	Thyroid hyperplasia	7253	TSHR	ORPHA:424
HP:0008249	Thyroid hyperplasia	5979	RET	OMIM:171400
HP:0008249	Thyroid hyperplasia	54539	NDUFB11	OMIM:300952
HP:0008207	Primary adrenal insufficiency	6338	SCNN1B	OMIM:177200
HP:0008207	Primary adrenal insufficiency	326	AIRE	OMIM:240300
HP:0008207	Primary adrenal insufficiency	326	AIRE	ORPHA:3453
HP:0008207	Primary adrenal insufficiency	6337	SCNN1A	OMIM:618126
HP:0008207	Primary adrenal insufficiency	1585	CYP11B2	OMIM:203400
HP:0008207	Primary adrenal insufficiency	1585	CYP11B2	OMIM:610600
HP:0008207	Primary adrenal insufficiency	1585	CYP11B2	ORPHA:556030
HP:0008207	Primary adrenal insufficiency	3291	HSD11B2	OMIM:218030
HP:0008207	Primary adrenal insufficiency	3291	HSD11B2	ORPHA:320
HP:0008207	Primary adrenal insufficiency	2908	NR3C1	ORPHA:786
HP:0008207	Primary adrenal insufficiency	4306	NR3C2	OMIM:605115
HP:0008207	Primary adrenal insufficiency	6340	SCNN1G	OMIM:618114
HP:0008207	Primary adrenal insufficiency	9095	TBX19	ORPHA:199296
HP:0008207	Primary adrenal insufficiency	9095	TBX19	OMIM:201400
HP:0008207	Primary adrenal insufficiency	4791	NFKB2	ORPHA:293978
HP:0008207	Primary adrenal insufficiency	5122	PCSK1	OMIM:600955
HP:0008207	Primary adrenal insufficiency	5447	POR	OMIM:201750
HP:0008207	Primary adrenal insufficiency	5447	POR	ORPHA:95699
HP:0008207	Primary adrenal insufficiency	4158	MC2R	OMIM:202200
HP:0008207	Primary adrenal insufficiency	4158	MC2R	ORPHA:361
HP:0008207	Primary adrenal insufficiency	215	ABCD1	ORPHA:139396
HP:0008207	Primary adrenal insufficiency	1583	CYP11A1	ORPHA:168558
HP:0008207	Primary adrenal insufficiency	1583	CYP11A1	ORPHA:289548
HP:0008207	Primary adrenal insufficiency	8314	BAP1	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	4771	NF2	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	6598	SMARCB1	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	5155	PDGFB	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	84231	TRAF7	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	6608	SMO	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	207	AKT1	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	5290	PIK3CA	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	7015	TERT	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	51684	SUFU	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	6605	SMARCE1	ORPHA:2495
HP:0008207	Primary adrenal insufficiency	8086	AAAS	OMIM:231550
HP:0008207	Primary adrenal insufficiency	56246	MRAP	ORPHA:361
HP:0008207	Primary adrenal insufficiency	56246	MRAP	OMIM:607398
HP:0008207	Primary adrenal insufficiency	6770	STAR	ORPHA:361
HP:0008207	Primary adrenal insufficiency	23530	NNT	ORPHA:361
HP:0008207	Primary adrenal insufficiency	23530	NNT	OMIM:614736
HP:0008207	Primary adrenal insufficiency	10587	TXNRD2	ORPHA:361
HP:0008207	Primary adrenal insufficiency	10587	TXNRD2	OMIM:617825
HP:0008207	Primary adrenal insufficiency	190	NR0B1	OMIM:300200
HP:0008207	Primary adrenal insufficiency	5443	POMC	OMIM:609734
HP:0008207	Primary adrenal insufficiency	55278	QRSL1	OMIM:618835
HP:0008207	Primary adrenal insufficiency	5188	GATB	OMIM:618838
HP:0008207	Primary adrenal insufficiency	866	SERPINA6	OMIM:611489
HP:0008207	Primary adrenal insufficiency	3284	HSD3B2	ORPHA:90791
HP:0008207	Primary adrenal insufficiency	283459	GATC	OMIM:618839
HP:0008207	Primary adrenal insufficiency	2737	GLI3	OMIM:146510
HP:0008207	Primary adrenal insufficiency	1586	CYP17A1	ORPHA:90793
HP:0008207	Primary adrenal insufficiency	1584	CYP11B1	ORPHA:90795
HP:0008207	Primary adrenal insufficiency	55670	PEX26	ORPHA:44
HP:0008207	Primary adrenal insufficiency	55670	PEX26	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5824	PEX19	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5824	PEX19	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5828	PEX2	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5828	PEX2	ORPHA:912
HP:0008207	Primary adrenal insufficiency	8504	PEX3	ORPHA:44
HP:0008207	Primary adrenal insufficiency	8504	PEX3	ORPHA:912
HP:0008207	Primary adrenal insufficiency	9409	PEX16	ORPHA:44
HP:0008207	Primary adrenal insufficiency	9409	PEX16	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5190	PEX6	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5190	PEX6	ORPHA:912
HP:0008207	Primary adrenal insufficiency	8799	PEX11B	ORPHA:44
HP:0008207	Primary adrenal insufficiency	8799	PEX11B	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5830	PEX5	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5830	PEX5	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5189	PEX1	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5189	PEX1	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5193	PEX12	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5193	PEX12	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5194	PEX13	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5194	PEX13	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5195	PEX14	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5195	PEX14	ORPHA:912
HP:0008207	Primary adrenal insufficiency	5192	PEX10	ORPHA:44
HP:0008207	Primary adrenal insufficiency	5192	PEX10	ORPHA:912
HP:0008207	Primary adrenal insufficiency	284058	KANSL1	ORPHA:363958
HP:0008207	Primary adrenal insufficiency	284058	KANSL1	ORPHA:363965
HP:0008207	Primary adrenal insufficiency	51081	MRPS7	OMIM:617872
HP:0008207	Primary adrenal insufficiency	3295	HSD17B4	OMIM:261515
HP:0008207	Primary adrenal insufficiency	26123	TCTN3	ORPHA:2753
HP:0000846	Adrenal insufficiency	3988	LIPA	ORPHA:75233
HP:0000846	Adrenal insufficiency	3988	LIPA	OMIM:278000
HP:0000846	Adrenal insufficiency	54809	SAMD9	OMIM:617053
HP:0000846	Adrenal insufficiency	326	AIRE	OMIM:240300
HP:0000846	Adrenal insufficiency	3043	HBB	ORPHA:231214
HP:0000846	Adrenal insufficiency	3043	HBB	ORPHA:231222
HP:0000846	Adrenal insufficiency	3043	HBB	ORPHA:231226
HP:0000846	Adrenal insufficiency	55240	STEAP3	ORPHA:300298
HP:0000846	Adrenal insufficiency	8879	SGPL1	OMIM:617575
HP:0000846	Adrenal insufficiency	5190	PEX6	OMIM:614863
HP:0000846	Adrenal insufficiency	29926	GMPPA	OMIM:615510
HP:0000846	Adrenal insufficiency	29926	GMPPA	ORPHA:869
HP:0000846	Adrenal insufficiency	89884	LHX4	OMIM:262700
HP:0000846	Adrenal insufficiency	60684	TRAPPC11	ORPHA:869
HP:0000846	Adrenal insufficiency	4173	MCM4	OMIM:609981
HP:0000846	Adrenal insufficiency	7681	MKRN3	OMIM:176270
HP:0000846	Adrenal insufficiency	3653	IPW	OMIM:176270
HP:0000846	Adrenal insufficiency	791114	PWRN1	OMIM:176270
HP:0000846	Adrenal insufficiency	100033413	SNORD116-1	OMIM:176270
HP:0000846	Adrenal insufficiency	8924	HERC2	OMIM:176270
HP:0000846	Adrenal insufficiency	145624	PWAR1	OMIM:176270
HP:0000846	Adrenal insufficiency	23742	NPAP1	OMIM:176270
HP:0000846	Adrenal insufficiency	338433	SNORD115-1	OMIM:176270
HP:0000846	Adrenal insufficiency	54880	BCOR	OMIM:300166
HP:0000846	Adrenal insufficiency	64432	MRPS25	OMIM:619025
HP:0000846	Adrenal insufficiency	5626	PROP1	OMIM:262600
HP:0000846	Adrenal insufficiency	9054	NFS1	OMIM:619386
HP:0000846	Adrenal insufficiency	6288	SAA1	ORPHA:85445
HP:0000846	Adrenal insufficiency	5830	PEX5	OMIM:202370
HP:0000846	Adrenal insufficiency	79133	NDUFAF5	OMIM:618238
HP:0000846	Adrenal insufficiency	6662	SOX9	ORPHA:251510
HP:0000846	Adrenal insufficiency	6845	VAMP7	ORPHA:251510
HP:0000846	Adrenal insufficiency	51741	WWOX	ORPHA:251510
HP:0000846	Adrenal insufficiency	4214	MAP3K1	ORPHA:251510
HP:0000846	Adrenal insufficiency	2516	NR5A1	ORPHA:251510
HP:0000846	Adrenal insufficiency	7490	WT1	ORPHA:251510
HP:0000846	Adrenal insufficiency	58524	DMRT3	ORPHA:251510
HP:0000846	Adrenal insufficiency	57647	DHX37	ORPHA:251510
HP:0000846	Adrenal insufficiency	6736	SRY	ORPHA:251510
HP:0000846	Adrenal insufficiency	23414	ZFPM2	ORPHA:251510
HP:0000846	Adrenal insufficiency	2626	GATA4	ORPHA:251510
HP:0000846	Adrenal insufficiency	2710	GK	OMIM:307030
HP:0000846	Adrenal insufficiency	6338	SCNN1B	OMIM:177200
HP:0000846	Adrenal insufficiency	6337	SCNN1A	OMIM:618126
HP:0000846	Adrenal insufficiency	1585	CYP11B2	OMIM:203400
HP:0000846	Adrenal insufficiency	1585	CYP11B2	OMIM:610600
HP:0000846	Adrenal insufficiency	1585	CYP11B2	ORPHA:556030
HP:0000846	Adrenal insufficiency	3291	HSD11B2	OMIM:218030
HP:0000846	Adrenal insufficiency	3291	HSD11B2	ORPHA:320
HP:0000846	Adrenal insufficiency	2908	NR3C1	ORPHA:786
HP:0000846	Adrenal insufficiency	4306	NR3C2	OMIM:605115
HP:0000846	Adrenal insufficiency	6340	SCNN1G	OMIM:618114
HP:0000846	Adrenal insufficiency	9095	TBX19	ORPHA:199296
HP:0000846	Adrenal insufficiency	9095	TBX19	OMIM:201400
HP:0000846	Adrenal insufficiency	4791	NFKB2	ORPHA:293978
HP:0000846	Adrenal insufficiency	5122	PCSK1	OMIM:600955
HP:0000846	Adrenal insufficiency	5447	POR	OMIM:201750
HP:0000846	Adrenal insufficiency	5447	POR	ORPHA:95699
HP:0000846	Adrenal insufficiency	4158	MC2R	OMIM:202200
HP:0000846	Adrenal insufficiency	4158	MC2R	ORPHA:361
HP:0000846	Adrenal insufficiency	215	ABCD1	ORPHA:139396
HP:0000846	Adrenal insufficiency	1583	CYP11A1	ORPHA:168558
HP:0000846	Adrenal insufficiency	1583	CYP11A1	ORPHA:289548
HP:0000846	Adrenal insufficiency	8314	BAP1	ORPHA:2495
HP:0000846	Adrenal insufficiency	4771	NF2	ORPHA:2495
HP:0000846	Adrenal insufficiency	6598	SMARCB1	ORPHA:2495
HP:0000846	Adrenal insufficiency	5155	PDGFB	ORPHA:2495
HP:0000846	Adrenal insufficiency	84231	TRAF7	ORPHA:2495
HP:0000846	Adrenal insufficiency	6608	SMO	ORPHA:2495
HP:0000846	Adrenal insufficiency	207	AKT1	ORPHA:2495
HP:0000846	Adrenal insufficiency	5290	PIK3CA	ORPHA:2495
HP:0000846	Adrenal insufficiency	7015	TERT	ORPHA:2495
HP:0000846	Adrenal insufficiency	51684	SUFU	ORPHA:2495
HP:0000846	Adrenal insufficiency	6605	SMARCE1	ORPHA:2495
HP:0000846	Adrenal insufficiency	8086	AAAS	OMIM:231550
HP:0000846	Adrenal insufficiency	56246	MRAP	ORPHA:361
HP:0000846	Adrenal insufficiency	56246	MRAP	OMIM:607398
HP:0000846	Adrenal insufficiency	6770	STAR	ORPHA:361
HP:0000846	Adrenal insufficiency	23530	NNT	ORPHA:361
HP:0000846	Adrenal insufficiency	23530	NNT	OMIM:614736
HP:0000846	Adrenal insufficiency	10587	TXNRD2	ORPHA:361
HP:0000846	Adrenal insufficiency	10587	TXNRD2	OMIM:617825
HP:0000846	Adrenal insufficiency	190	NR0B1	OMIM:300200
HP:0000846	Adrenal insufficiency	5443	POMC	OMIM:609734
HP:0000846	Adrenal insufficiency	55278	QRSL1	OMIM:618835
HP:0000846	Adrenal insufficiency	5188	GATB	OMIM:618838
HP:0000846	Adrenal insufficiency	866	SERPINA6	OMIM:611489
HP:0000846	Adrenal insufficiency	3284	HSD3B2	ORPHA:90791
HP:0000846	Adrenal insufficiency	283459	GATC	OMIM:618839
HP:0000846	Adrenal insufficiency	2737	GLI3	OMIM:146510
HP:0000846	Adrenal insufficiency	1586	CYP17A1	ORPHA:90793
HP:0000846	Adrenal insufficiency	1584	CYP11B1	ORPHA:90795
HP:0000846	Adrenal insufficiency	55670	PEX26	ORPHA:44
HP:0000846	Adrenal insufficiency	55670	PEX26	ORPHA:912
HP:0000846	Adrenal insufficiency	5824	PEX19	ORPHA:44
HP:0000846	Adrenal insufficiency	5824	PEX19	ORPHA:912
HP:0000846	Adrenal insufficiency	5828	PEX2	ORPHA:44
HP:0000846	Adrenal insufficiency	5828	PEX2	ORPHA:912
HP:0000846	Adrenal insufficiency	8504	PEX3	ORPHA:44
HP:0000846	Adrenal insufficiency	8504	PEX3	ORPHA:912
HP:0000846	Adrenal insufficiency	9409	PEX16	ORPHA:44
HP:0000846	Adrenal insufficiency	9409	PEX16	ORPHA:912
HP:0000846	Adrenal insufficiency	8799	PEX11B	ORPHA:44
HP:0000846	Adrenal insufficiency	8799	PEX11B	ORPHA:912
HP:0000846	Adrenal insufficiency	5189	PEX1	ORPHA:44
HP:0000846	Adrenal insufficiency	5189	PEX1	ORPHA:912
HP:0000846	Adrenal insufficiency	5193	PEX12	ORPHA:44
HP:0000846	Adrenal insufficiency	5193	PEX12	ORPHA:912
HP:0000846	Adrenal insufficiency	5194	PEX13	ORPHA:44
HP:0000846	Adrenal insufficiency	5194	PEX13	ORPHA:912
HP:0000846	Adrenal insufficiency	5195	PEX14	ORPHA:44
HP:0000846	Adrenal insufficiency	5195	PEX14	ORPHA:912
HP:0000846	Adrenal insufficiency	5192	PEX10	ORPHA:44
HP:0000846	Adrenal insufficiency	5192	PEX10	ORPHA:912
HP:0000846	Adrenal insufficiency	284058	KANSL1	ORPHA:363958
HP:0000846	Adrenal insufficiency	284058	KANSL1	ORPHA:363965
HP:0000846	Adrenal insufficiency	51081	MRPS7	OMIM:617872
HP:0000846	Adrenal insufficiency	3295	HSD17B4	OMIM:261515
HP:0000846	Adrenal insufficiency	26123	TCTN3	ORPHA:2753
HP:0000846	Adrenal insufficiency	6638	SNRPN	ORPHA:177904
HP:0000846	Adrenal insufficiency	6638	SNRPN	ORPHA:177901
HP:0000846	Adrenal insufficiency	6638	SNRPN	ORPHA:98754
HP:0000846	Adrenal insufficiency	4692	NDN	ORPHA:177904
HP:0000846	Adrenal insufficiency	4692	NDN	ORPHA:177901
HP:0000846	Adrenal insufficiency	4692	NDN	ORPHA:98754
HP:0000846	Adrenal insufficiency	54551	MAGEL2	ORPHA:177904
HP:0000846	Adrenal insufficiency	54551	MAGEL2	ORPHA:177901
HP:0000846	Adrenal insufficiency	54551	MAGEL2	ORPHA:98754
HP:0000846	Adrenal insufficiency	4948	OCA2	ORPHA:177904
HP:0000846	Adrenal insufficiency	4948	OCA2	ORPHA:177901
HP:0000846	Adrenal insufficiency	4948	OCA2	ORPHA:98754
HP:0000846	Adrenal insufficiency	64072	CDH23	ORPHA:91347
HP:0000846	Adrenal insufficiency	64072	CDH23	ORPHA:2965
HP:0000846	Adrenal insufficiency	55699	IARS2	OMIM:616007
HP:0000846	Adrenal insufficiency	4221	MEN1	ORPHA:2965
HP:0000846	Adrenal insufficiency	9049	AIP	ORPHA:2965
HP:0000846	Adrenal insufficiency	55131	RBM28	OMIM:612079
HP:0000846	Adrenal insufficiency	93627	TBCK	ORPHA:488632
HP:0000846	Adrenal insufficiency	1499	CTNNB1	ORPHA:54595
HP:0000846	Adrenal insufficiency	673	BRAF	ORPHA:54595
HP:0008202	Reduced circulating prolactin concentration	55131	RBM28	ORPHA:157954
HP:0008202	Reduced circulating prolactin concentration	5626	PROP1	OMIM:262600
HP:0008202	Reduced circulating prolactin concentration	5626	PROP1	ORPHA:226307
HP:0008202	Reduced circulating prolactin concentration	1621	DBH	OMIM:223360
HP:0008202	Reduced circulating prolactin concentration	3547	IGSF1	OMIM:300888
HP:0008202	Reduced circulating prolactin concentration	89884	LHX4	ORPHA:226307
HP:0008202	Reduced circulating prolactin concentration	8022	LHX3	ORPHA:226307
HP:0008202	Reduced circulating prolactin concentration	5449	POU1F1	ORPHA:226307
HP:0008202	Reduced circulating prolactin concentration	5449	POU1F1	OMIM:613038
HP:0008202	Reduced circulating prolactin concentration	8820	HESX1	ORPHA:226307
HP:0008202	Reduced circulating prolactin concentration	8314	BAP1	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	4771	NF2	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	6598	SMARCB1	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	5155	PDGFB	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	84231	TRAF7	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	6608	SMO	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	207	AKT1	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	5290	PIK3CA	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	7015	TERT	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	51684	SUFU	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	6605	SMARCE1	ORPHA:2495
HP:0008202	Reduced circulating prolactin concentration	2778	GNAS	ORPHA:79443
HP:0008202	Reduced circulating prolactin concentration	2778	GNAS	ORPHA:79444
HP:0008202	Reduced circulating prolactin concentration	7201	TRHR	ORPHA:99832
HP:0008204	Precocious puberty with Sertoli cell tumor	6794	STK11	OMIM:175200
HP:0000821	Hypothyroidism	83483	PLVAP	OMIM:618183
HP:0000821	Hypothyroidism	7528	YY1	ORPHA:506358
HP:0000821	Hypothyroidism	2904	GRIN2B	OMIM:613970
HP:0000821	Hypothyroidism	84515	MCM8	OMIM:612885
HP:0000821	Hypothyroidism	987	LRBA	OMIM:614700
HP:0000821	Hypothyroidism	64682	ANAPC1	OMIM:618625
HP:0000821	Hypothyroidism	64682	ANAPC1	ORPHA:221008
HP:0000821	Hypothyroidism	7518	XRCC4	ORPHA:99812
HP:0000821	Hypothyroidism	7518	XRCC4	OMIM:616541
HP:0000821	Hypothyroidism	3981	LIG4	ORPHA:99812
HP:0000821	Hypothyroidism	3981	LIG4	OMIM:606593
HP:0000821	Hypothyroidism	3981	LIG4	ORPHA:39041
HP:0000821	Hypothyroidism	3766	KCNJ10	ORPHA:705
HP:0000821	Hypothyroidism	2299	FOXI1	ORPHA:705
HP:0000821	Hypothyroidism	5172	SLC26A4	ORPHA:705
HP:0000821	Hypothyroidism	5172	SLC26A4	ORPHA:95720
HP:0000821	Hypothyroidism	5172	SLC26A4	ORPHA:95713
HP:0000821	Hypothyroidism	64324	NSD1	ORPHA:821
HP:0000821	Hypothyroidism	29072	SETD2	ORPHA:821
HP:0000821	Hypothyroidism	10297	APC2	ORPHA:821
HP:0000821	Hypothyroidism	3190	HNRNPK	ORPHA:453504
HP:0000821	Hypothyroidism	3190	HNRNPK	ORPHA:352665
HP:0000821	Hypothyroidism	7849	PAX8	OMIM:218700
HP:0000821	Hypothyroidism	7849	PAX8	ORPHA:95720
HP:0000821	Hypothyroidism	7849	PAX8	ORPHA:95713
HP:0000821	Hypothyroidism	7849	PAX8	ORPHA:95712
HP:0000821	Hypothyroidism	6658	SOX3	OMIM:300123
HP:0000821	Hypothyroidism	197131	UBR1	OMIM:243800
HP:0000821	Hypothyroidism	7018	TF	ORPHA:1195
HP:0000821	Hypothyroidism	4141	MARS1	OMIM:615486
HP:0000821	Hypothyroidism	2314	FLII	ORPHA:819
HP:0000821	Hypothyroidism	23096	IQSEC2	ORPHA:819
HP:0000821	Hypothyroidism	10743	RAI1	ORPHA:819
HP:0000821	Hypothyroidism	10522	DEAF1	ORPHA:819
HP:0000821	Hypothyroidism	3716	JAK1	OMIM:618999
HP:0000821	Hypothyroidism	79048	SECISBP2	OMIM:609698
HP:0000821	Hypothyroidism	4038	LRP4	ORPHA:3258
HP:0000821	Hypothyroidism	324	APC	ORPHA:3258
HP:0000821	Hypothyroidism	4868	NPHS1	OMIM:256300
HP:0000821	Hypothyroidism	2260	FGFR1	ORPHA:280200
HP:0000821	Hypothyroidism	28514	DLL1	ORPHA:280200
HP:0000821	Hypothyroidism	2253	FGF8	ORPHA:280200
HP:0000821	Hypothyroidism	6496	SIX3	ORPHA:280200
HP:0000821	Hypothyroidism	7050	TGIF1	ORPHA:280200
HP:0000821	Hypothyroidism	4838	NODAL	ORPHA:280200
HP:0000821	Hypothyroidism	6469	SHH	ORPHA:280200
HP:0000821	Hypothyroidism	51684	SUFU	ORPHA:280200
HP:0000821	Hypothyroidism	7546	ZIC2	ORPHA:280200
HP:0000821	Hypothyroidism	2619	GAS1	ORPHA:280200
HP:0000821	Hypothyroidism	84976	DISP1	ORPHA:280200
HP:0000821	Hypothyroidism	2736	GLI2	ORPHA:280200
HP:0000821	Hypothyroidism	8928	FOXH1	ORPHA:280200
HP:0000821	Hypothyroidism	5727	PTCH1	ORPHA:280200
HP:0000821	Hypothyroidism	50937	CDON	ORPHA:280200
HP:0000821	Hypothyroidism	50937	CDON	ORPHA:95496
HP:0000821	Hypothyroidism	54	ACP5	OMIM:607944
HP:0000821	Hypothyroidism	54	ACP5	ORPHA:1855
HP:0000821	Hypothyroidism	6772	STAT1	OMIM:614162
HP:0000821	Hypothyroidism	23250	ATP11A	OMIM:619851
HP:0000821	Hypothyroidism	284058	KANSL1	ORPHA:363958
HP:0000821	Hypothyroidism	284058	KANSL1	ORPHA:363965
HP:0000821	Hypothyroidism	55870	ASH1L	OMIM:617796
HP:0000821	Hypothyroidism	23522	KAT6B	OMIM:606170
HP:0000821	Hypothyroidism	23522	KAT6B	OMIM:603736
HP:0000821	Hypothyroidism	23522	KAT6B	ORPHA:3047
HP:0000821	Hypothyroidism	7840	ALMS1	OMIM:203800
HP:0000821	Hypothyroidism	2332	FMR1	ORPHA:93256
HP:0000821	Hypothyroidism	2332	FMR1	ORPHA:449291
HP:0000821	Hypothyroidism	2332	FMR1	OMIM:300623
HP:0000821	Hypothyroidism	10020	GNE	ORPHA:602
HP:0000821	Hypothyroidism	6899	TBX1	OMIM:188400
HP:0000821	Hypothyroidism	6899	TBX1	ORPHA:567
HP:0000821	Hypothyroidism	7466	WFS1	OMIM:222300
HP:0000821	Hypothyroidism	7466	WFS1	ORPHA:411590
HP:0000821	Hypothyroidism	652	BMP4	OMIM:607932
HP:0000821	Hypothyroidism	9184	BUB3	ORPHA:1052
HP:0000821	Hypothyroidism	699	BUB1	ORPHA:1052
HP:0000821	Hypothyroidism	9702	CEP57	ORPHA:1052
HP:0000821	Hypothyroidism	9702	CEP57	OMIM:614114
HP:0000821	Hypothyroidism	9319	TRIP13	ORPHA:1052
HP:0000821	Hypothyroidism	701	BUB1B	ORPHA:1052
HP:0000821	Hypothyroidism	51651	PTRH2	ORPHA:456312
HP:0000821	Hypothyroidism	51651	PTRH2	OMIM:616263
HP:0000821	Hypothyroidism	2992	GYG1	ORPHA:263297
HP:0000821	Hypothyroidism	55148	UBR7	OMIM:619189
HP:0000821	Hypothyroidism	1482	NKX2-5	OMIM:225250
HP:0000821	Hypothyroidism	1482	NKX2-5	ORPHA:95713
HP:0000821	Hypothyroidism	1482	NKX2-5	ORPHA:95712
HP:0000821	Hypothyroidism	93627	TBCK	ORPHA:488632
HP:0000821	Hypothyroidism	55636	CHD7	OMIM:214800
HP:0000821	Hypothyroidism	55636	CHD7	ORPHA:39041
HP:0000821	Hypothyroidism	79053	ALG8	OMIM:608104
HP:0000821	Hypothyroidism	5373	PMM2	OMIM:212065
HP:0000821	Hypothyroidism	3043	HBB	ORPHA:231214
HP:0000821	Hypothyroidism	3043	HBB	ORPHA:231222
HP:0000821	Hypothyroidism	3043	HBB	ORPHA:231226
HP:0000821	Hypothyroidism	388662	SLC6A17	ORPHA:457212
HP:0000821	Hypothyroidism	8879	SGPL1	OMIM:617575
HP:0000821	Hypothyroidism	3572	IL6ST	OMIM:619750
HP:0000821	Hypothyroidism	1593	CYP27A1	ORPHA:909
HP:0000821	Hypothyroidism	6774	STAT3	OMIM:615952
HP:0000821	Hypothyroidism	25981	DNAH1	OMIM:617577
HP:0000821	Hypothyroidism	6804	STX1A	ORPHA:904
HP:0000821	Hypothyroidism	7461	CLIP2	ORPHA:904
HP:0000821	Hypothyroidism	84277	DNAJC30	ORPHA:904
HP:0000821	Hypothyroidism	8468	FKBP6	ORPHA:904
HP:0000821	Hypothyroidism	5982	RFC2	ORPHA:904
HP:0000821	Hypothyroidism	2969	GTF2I	ORPHA:904
HP:0000821	Hypothyroidism	3984	LIMK1	ORPHA:904
HP:0000821	Hypothyroidism	9569	GTF2IRD1	ORPHA:904
HP:0000821	Hypothyroidism	155382	VPS37D	ORPHA:904
HP:0000821	Hypothyroidism	155368	METTL27	ORPHA:904
HP:0000821	Hypothyroidism	114049	BUD23	ORPHA:904
HP:0000821	Hypothyroidism	7458	EIF4H	ORPHA:904
HP:0000821	Hypothyroidism	84163	GTF2IRD2	ORPHA:904
HP:0000821	Hypothyroidism	9275	BCL7B	ORPHA:904
HP:0000821	Hypothyroidism	26608	TBL2	ORPHA:904
HP:0000821	Hypothyroidism	653361	NCF1	ORPHA:904
HP:0000821	Hypothyroidism	135886	TMEM270	ORPHA:904
HP:0000821	Hypothyroidism	51085	MLXIPL	ORPHA:904
HP:0000821	Hypothyroidism	51085	MLXIPL	OMIM:194050
HP:0000821	Hypothyroidism	9031	BAZ1B	ORPHA:904
HP:0000821	Hypothyroidism	2006	ELN	ORPHA:904
HP:0000821	Hypothyroidism	2006	ELN	OMIM:194050
HP:0000821	Hypothyroidism	54440	SASH3	OMIM:301082
HP:0000821	Hypothyroidism	5590	PRKCZ	ORPHA:1606
HP:0000821	Hypothyroidism	2563	GABRD	ORPHA:1606
HP:0000821	Hypothyroidism	23013	SPEN	ORPHA:1606
HP:0000821	Hypothyroidism	8510	MMP23B	ORPHA:1606
HP:0000821	Hypothyroidism	7798	LUZP1	ORPHA:1606
HP:0000821	Hypothyroidism	6497	SKI	ORPHA:1606
HP:0000821	Hypothyroidism	10630	PDPN	ORPHA:1606
HP:0000821	Hypothyroidism	3339	HSPG2	ORPHA:1606
HP:0000821	Hypothyroidism	10277	UBE4B	ORPHA:1606
HP:0000821	Hypothyroidism	8514	KCNAB2	ORPHA:1606
HP:0000821	Hypothyroidism	473	RERE	ORPHA:1606
HP:0000821	Hypothyroidism	63976	PRDM16	ORPHA:1606
HP:0000821	Hypothyroidism	54897	CASZ1	ORPHA:1606
HP:0000821	Hypothyroidism	6329	SCN4A	ORPHA:99736
HP:0000821	Hypothyroidism	80067	DCAF17	ORPHA:3464
HP:0000821	Hypothyroidism	128674	PROKR2	ORPHA:95496
HP:0000821	Hypothyroidism	89884	LHX4	ORPHA:95496
HP:0000821	Hypothyroidism	89884	LHX4	OMIM:262700
HP:0000821	Hypothyroidism	55717	WDR11	ORPHA:95496
HP:0000821	Hypothyroidism	6091	ROBO1	ORPHA:95496
HP:0000821	Hypothyroidism	8820	HESX1	ORPHA:95496
HP:0000821	Hypothyroidism	23432	GPR161	ORPHA:95496
HP:0000821	Hypothyroidism	8085	KMT2D	OMIM:620186
HP:0000821	Hypothyroidism	2517	FUCA1	ORPHA:349
HP:0000821	Hypothyroidism	7173	TPO	OMIM:274500
HP:0000821	Hypothyroidism	55719	SLF2	OMIM:620184
HP:0000821	Hypothyroidism	26137	ZBTB20	OMIM:259050
HP:0000821	Hypothyroidism	27086	FOXP1	ORPHA:391372
HP:0000821	Hypothyroidism	5205	ATP8B1	ORPHA:69665
HP:0000821	Hypothyroidism	8647	ABCB11	ORPHA:69665
HP:0000821	Hypothyroidism	5244	ABCB4	ORPHA:69665
HP:0000821	Hypothyroidism	9971	NR1H4	ORPHA:69665
HP:0000821	Hypothyroidism	6288	SAA1	ORPHA:85445
HP:0000821	Hypothyroidism	3481	IGF2	ORPHA:397590
HP:0000821	Hypothyroidism	1028	CDKN1C	ORPHA:397590
HP:0000821	Hypothyroidism	5324	PLAG1	ORPHA:397590
HP:0000821	Hypothyroidism	8091	HMGA2	ORPHA:397590
HP:0000821	Hypothyroidism	84634	KISS1R	OMIM:176400
HP:0000821	Hypothyroidism	64135	IFIH1	OMIM:615846
HP:0000821	Hypothyroidism	64135	IFIH1	ORPHA:51
HP:0000821	Hypothyroidism	7248	TSC1	OMIM:191100
HP:0000821	Hypothyroidism	111	ADCY5	OMIM:619647
HP:0000821	Hypothyroidism	84919	PPP1R15B	OMIM:616817
HP:0000821	Hypothyroidism	84919	PPP1R15B	ORPHA:391408
HP:0000821	Hypothyroidism	7841	MOGS	ORPHA:79330
HP:0000821	Hypothyroidism	3662	IRF4	ORPHA:3452
HP:0000821	Hypothyroidism	2683	B4GALT1	ORPHA:79332
HP:0000821	Hypothyroidism	4351	MPI	ORPHA:79319
HP:0000821	Hypothyroidism	775	CACNA1C	OMIM:601005
HP:0000821	Hypothyroidism	326	AIRE	OMIM:240300
HP:0000821	Hypothyroidism	85365	ALG2	OMIM:607906
HP:0000821	Hypothyroidism	5286	PIK3C2A	OMIM:618440
HP:0000821	Hypothyroidism	10661	KLF1	OMIM:613673
HP:0000821	Hypothyroidism	3977	LIFR	ORPHA:3206
HP:0000821	Hypothyroidism	2778	GNAS	OMIM:612462
HP:0000821	Hypothyroidism	2778	GNAS	OMIM:103580
HP:0000821	Hypothyroidism	50943	FOXP3	ORPHA:37042
HP:0000821	Hypothyroidism	50943	FOXP3	OMIM:304790
HP:0000821	Hypothyroidism	654	BMP6	ORPHA:465508
HP:0000821	Hypothyroidism	3077	HFE	ORPHA:465508
HP:0000821	Hypothyroidism	374969	SVBP	OMIM:618569
HP:0000821	Hypothyroidism	3242	HPD	ORPHA:2118
HP:0000821	Hypothyroidism	6528	SLC5A5	OMIM:274400
HP:0000821	Hypothyroidism	1642	DDB1	OMIM:619426
HP:0000821	Hypothyroidism	3559	IL2RA	OMIM:606367
HP:0000821	Hypothyroidism	10535	RNASEH2A	ORPHA:51
HP:0000821	Hypothyroidism	84153	RNASEH2C	ORPHA:51
HP:0000821	Hypothyroidism	25939	SAMHD1	ORPHA:51
HP:0000821	Hypothyroidism	79621	RNASEH2B	ORPHA:51
HP:0000821	Hypothyroidism	103	ADAR	ORPHA:51
HP:0000821	Hypothyroidism	11277	TREX1	ORPHA:51
HP:0000821	Hypothyroidism	11277	TREX1	OMIM:225750
HP:0000821	Hypothyroidism	100147744	RNU7-1	ORPHA:51
HP:0000821	Hypothyroidism	100147744	RNU7-1	OMIM:619487
HP:0000821	Hypothyroidism	134353	LSM11	ORPHA:51
HP:0000821	Hypothyroidism	291	SLC25A4	ORPHA:254892
HP:0000821	Hypothyroidism	5428	POLG	ORPHA:254892
HP:0000821	Hypothyroidism	56652	TWNK	ORPHA:254892
HP:0000821	Hypothyroidism	11232	POLG2	ORPHA:254892
HP:0000821	Hypothyroidism	50484	RRM2B	ORPHA:254892
HP:0000821	Hypothyroidism	4558	MT-TF	ORPHA:550
HP:0000821	Hypothyroidism	4572	MT-TQ	ORPHA:550
HP:0000821	Hypothyroidism	4512	MT-CO1	ORPHA:550
HP:0000821	Hypothyroidism	4513	MT-CO2	ORPHA:550
HP:0000821	Hypothyroidism	4514	MT-CO3	ORPHA:550
HP:0000821	Hypothyroidism	4578	MT-TW	ORPHA:550
HP:0000821	Hypothyroidism	4540	MT-ND5	ORPHA:550
HP:0000821	Hypothyroidism	4541	MT-ND6	ORPHA:550
HP:0000821	Hypothyroidism	4535	MT-ND1	ORPHA:550
HP:0000821	Hypothyroidism	4538	MT-ND4	ORPHA:550
HP:0000821	Hypothyroidism	4567	MT-TL1	ORPHA:550
HP:0000821	Hypothyroidism	4567	MT-TL1	ORPHA:663
HP:0000821	Hypothyroidism	4574	MT-TS1	ORPHA:550
HP:0000821	Hypothyroidism	4574	MT-TS1	ORPHA:663
HP:0000821	Hypothyroidism	4575	MT-TS2	ORPHA:550
HP:0000821	Hypothyroidism	4564	MT-TH	ORPHA:550
HP:0000821	Hypothyroidism	1859	DYRK1A	ORPHA:268261
HP:0000821	Hypothyroidism	9780	PIEZO1	OMIM:616843
HP:0000821	Hypothyroidism	10785	WDR4	OMIM:618347
HP:0000821	Hypothyroidism	50506	DUOX2	OMIM:607200
HP:0000821	Hypothyroidism	81570	CLPB	ORPHA:445038
HP:0000821	Hypothyroidism	2258	FGF13	OMIM:301058
HP:0000821	Hypothyroidism	27125	AFF4	ORPHA:444077
HP:0000821	Hypothyroidism	4568	MT-TL2	ORPHA:663
HP:0000821	Hypothyroidism	4570	MT-TN	ORPHA:663
HP:0000821	Hypothyroidism	6299	SALL1	OMIM:107480
HP:0000821	Hypothyroidism	6299	SALL1	ORPHA:857
HP:0000821	Hypothyroidism	6567	SLC16A2	OMIM:300523
HP:0000821	Hypothyroidism	2623	GATA1	OMIM:190685
HP:0000821	Hypothyroidism	29998	BICRA	OMIM:619325
HP:0000821	Hypothyroidism	113179	ADAT3	ORPHA:363528
HP:0000821	Hypothyroidism	3547	IGSF1	OMIM:300888
HP:0000821	Hypothyroidism	55215	FANCI	OMIM:609053
HP:0000821	Hypothyroidism	7200	TRH	OMIM:275120
HP:0000821	Hypothyroidism	1027	CDKN1B	OMIM:610755
HP:0000821	Hypothyroidism	348	APOE	ORPHA:412
HP:0000821	Hypothyroidism	3767	KCNJ11	ORPHA:99886
HP:0000821	Hypothyroidism	346171	ZFP57	ORPHA:99886
HP:0000821	Hypothyroidism	57061	HYMAI	ORPHA:99886
HP:0000821	Hypothyroidism	6833	ABCC8	ORPHA:99886
HP:0000821	Hypothyroidism	5325	PLAGL1	ORPHA:99886
HP:0000821	Hypothyroidism	7253	TSHR	ORPHA:95720
HP:0000821	Hypothyroidism	7253	TSHR	ORPHA:95713
HP:0000821	Hypothyroidism	7253	TSHR	OMIM:275200
HP:0000821	Hypothyroidism	2542	SLC37A4	ORPHA:79259
HP:0000821	Hypothyroidism	10059	DNM1L	ORPHA:98673
HP:0000821	Hypothyroidism	4976	OPA1	ORPHA:98673
HP:0000821	Hypothyroidism	2530	FUT8	OMIM:618005
HP:0000821	Hypothyroidism	55240	STEAP3	ORPHA:300298
HP:0000821	Hypothyroidism	7080	NKX2-1	ORPHA:95713
HP:0000821	Hypothyroidism	2304	FOXE1	ORPHA:95713
HP:0000821	Hypothyroidism	201163	FLCN	OMIM:610883
HP:0000821	Hypothyroidism	708	C1QBP	OMIM:617713
HP:0000821	Hypothyroidism	2917	GRM7	OMIM:618922
HP:0000821	Hypothyroidism	1312	COMT	ORPHA:567
HP:0000821	Hypothyroidism	221037	JMJD1C	ORPHA:567
HP:0000821	Hypothyroidism	2812	GP1BB	ORPHA:567
HP:0000821	Hypothyroidism	6239	RREB1	ORPHA:567
HP:0000821	Hypothyroidism	7290	HIRA	ORPHA:567
HP:0000821	Hypothyroidism	9632	SEC24C	ORPHA:567
HP:0000821	Hypothyroidism	7353	UFD1	ORPHA:567
HP:0000821	Hypothyroidism	421	ARVCF	ORPHA:567
HP:0000821	Hypothyroidism	4547	MTTP	ORPHA:14
HP:0000821	Hypothyroidism	112812	FDX2	OMIM:251900
HP:0000821	Hypothyroidism	3293	HSD17B3	OMIM:264300
HP:0000821	Hypothyroidism	3293	HSD17B3	ORPHA:752
HP:0000821	Hypothyroidism	128989	TANGO2	OMIM:616878
HP:0000821	Hypothyroidism	55186	SLC25A36	OMIM:620211
HP:0000821	Hypothyroidism	56244	BTNL2	ORPHA:797
HP:0000821	Hypothyroidism	3123	HLA-DRB1	ORPHA:797
HP:0000821	Hypothyroidism	7074	TIAM1	OMIM:619908
HP:0000821	Hypothyroidism	9757	KMT2B	ORPHA:589618
HP:0000821	Hypothyroidism	84265	POLR3GL	OMIM:619234
HP:0000821	Hypothyroidism	57003	CCDC47	OMIM:618268
HP:0000821	Hypothyroidism	10526	IPO8	OMIM:619472
HP:0000821	Hypothyroidism	2643	GCH1	ORPHA:98808
HP:0000821	Hypothyroidism	4929	NR4A2	ORPHA:98808
HP:0000821	Hypothyroidism	3615	IMPDH2	ORPHA:98808
HP:0000821	Hypothyroidism	7249	TSC2	OMIM:613254
HP:0000821	Hypothyroidism	3458	IFNG	OMIM:613254
HP:0000821	Hypothyroidism	6023	RMRP	ORPHA:39041
HP:0000821	Hypothyroidism	5896	RAG1	ORPHA:39041
HP:0000821	Hypothyroidism	5897	RAG2	ORPHA:39041
HP:0000821	Hypothyroidism	64421	DCLRE1C	ORPHA:39041
HP:0000821	Hypothyroidism	100	ADA	ORPHA:39041
HP:0000821	Hypothyroidism	3575	IL7R	ORPHA:39041
HP:0000821	Hypothyroidism	3561	IL2RG	ORPHA:39041
HP:0000821	Hypothyroidism	6928	HNF1B	ORPHA:93111
HP:0000821	Hypothyroidism	4796	TONSL	ORPHA:93357
HP:0000821	Hypothyroidism	8405	SPOP	OMIM:618829
HP:0000821	Hypothyroidism	2132	EXT2	ORPHA:52022
HP:0000821	Hypothyroidism	60529	ALX4	ORPHA:52022
HP:0000821	Hypothyroidism	51317	PHF21A	ORPHA:52022
HP:0000821	Hypothyroidism	405753	DUOXA2	OMIM:274900
HP:0000821	Hypothyroidism	5728	PTEN	OMIM:158350
HP:0000821	Hypothyroidism	54880	BCOR	OMIM:300166
HP:0000821	Hypothyroidism	83737	ITCH	OMIM:613385
HP:0000821	Hypothyroidism	83737	ITCH	ORPHA:228426
HP:0000821	Hypothyroidism	2890	GRIA1	OMIM:619927
HP:0000821	Hypothyroidism	51339	DACT1	ORPHA:857
HP:0000821	Hypothyroidism	93587	TRMT10A	ORPHA:391408
HP:0000821	Hypothyroidism	2767	GNA11	ORPHA:1556
HP:0000821	Hypothyroidism	151188	ARL6IP6	ORPHA:1556
HP:0000821	Hypothyroidism	9759	HDAC4	OMIM:600430
HP:0000821	Hypothyroidism	2193	FARSA	OMIM:619013
HP:0000821	Hypothyroidism	10273	STUB1	ORPHA:412057
HP:0000821	Hypothyroidism	4194	MDM4	OMIM:618849
HP:0000821	Hypothyroidism	131118	DNAJC19	ORPHA:66634
HP:0000821	Hypothyroidism	5449	POU1F1	OMIM:613038
HP:0000821	Hypothyroidism	5557	PRIM1	OMIM:620005
HP:0000821	Hypothyroidism	3643	INSR	ORPHA:769
HP:0000821	Hypothyroidism	9451	EIF2AK3	ORPHA:1667
HP:0000821	Hypothyroidism	79644	SRD5A3	ORPHA:324737
HP:0000821	Hypothyroidism	389434	IYD	OMIM:274800
HP:0000821	Hypothyroidism	1604	CD55	OMIM:226300
HP:0000821	Hypothyroidism	3735	KARS1	OMIM:619147
HP:0000821	Hypothyroidism	5626	PROP1	OMIM:262600
HP:0000821	Hypothyroidism	23404	EXOSC2	OMIM:617763
HP:0000821	Hypothyroidism	9652	SKIC3	ORPHA:84064
HP:0000821	Hypothyroidism	6499	SKIC2	ORPHA:84064
HP:0000821	Hypothyroidism	6736	SRY	ORPHA:1772
HP:0000821	Hypothyroidism	5290	PIK3CA	OMIM:615108
HP:0000821	Hypothyroidism	207	AKT1	OMIM:615109
HP:0000821	Hypothyroidism	1497	CTNS	ORPHA:411634
HP:0000821	Hypothyroidism	5167	ENPP1	ORPHA:758
HP:0000821	Hypothyroidism	368	ABCC6	ORPHA:758
HP:0000821	Hypothyroidism	7252	TSHB	OMIM:275100
HP:0000821	Hypothyroidism	1650	DDOST	ORPHA:300536
HP:0000821	Hypothyroidism	10043	TOM1	ORPHA:391487
HP:0000821	Hypothyroidism	2627	GATA6	ORPHA:2255
HP:0000821	Hypothyroidism	145173	B3GLCT	ORPHA:709
HP:0000821	Hypothyroidism	526	ATP6V1B2	ORPHA:79500
HP:0000821	Hypothyroidism	57465	TBC1D24	ORPHA:79500
HP:0000821	Hypothyroidism	5573	PRKAR1A	ORPHA:280651
HP:0000821	Hypothyroidism	5573	PRKAR1A	OMIM:101800
HP:0000821	Hypothyroidism	5144	PDE4D	ORPHA:280651
HP:0000821	Hypothyroidism	5144	PDE4D	OMIM:614613
HP:0000821	Hypothyroidism	56246	MRAP	ORPHA:361
HP:0000821	Hypothyroidism	6770	STAR	ORPHA:361
HP:0000821	Hypothyroidism	4158	MC2R	ORPHA:361
HP:0000821	Hypothyroidism	23530	NNT	ORPHA:361
HP:0000821	Hypothyroidism	23530	NNT	OMIM:614736
HP:0000821	Hypothyroidism	10587	TXNRD2	ORPHA:361
HP:0000821	Hypothyroidism	7067	THRA	OMIM:614450
HP:0000821	Hypothyroidism	83696	TRAPPC9	ORPHA:352530
HP:0000821	Hypothyroidism	92949	ADAMTSL1	ORPHA:521445
HP:0000821	Hypothyroidism	2782	GNB1	OMIM:616973
HP:0000821	Hypothyroidism	169792	GLIS3	OMIM:610199
HP:0000821	Hypothyroidism	9373	PLAA	OMIM:617527
HP:0000821	Hypothyroidism	79693	YRDC	OMIM:619609
HP:0000821	Hypothyroidism	7403	KDM6A	OMIM:147920
HP:0000821	Hypothyroidism	7068	THRB	OMIM:274300
HP:0000821	Hypothyroidism	7038	TG	OMIM:274700
HP:0000821	Hypothyroidism	2737	GLI3	ORPHA:672
HP:0000821	Hypothyroidism	55131	RBM28	ORPHA:157954
HP:0000821	Hypothyroidism	8022	LHX3	ORPHA:226307
HP:0000821	Hypothyroidism	8022	LHX3	ORPHA:231720
HP:0000821	Hypothyroidism	5122	PCSK1	ORPHA:71528
HP:0000821	Hypothyroidism	3953	LEPR	OMIM:614963
HP:0000821	Hypothyroidism	3953	LEPR	ORPHA:179494
HP:0000821	Hypothyroidism	8314	BAP1	ORPHA:2495
HP:0000821	Hypothyroidism	4771	NF2	ORPHA:2495
HP:0000821	Hypothyroidism	6598	SMARCB1	ORPHA:2495
HP:0000821	Hypothyroidism	5155	PDGFB	ORPHA:2495
HP:0000821	Hypothyroidism	84231	TRAF7	ORPHA:2495
HP:0000821	Hypothyroidism	6608	SMO	ORPHA:2495
HP:0000821	Hypothyroidism	7015	TERT	ORPHA:2495
HP:0000821	Hypothyroidism	6605	SMARCE1	ORPHA:2495
HP:0000821	Hypothyroidism	5443	POMC	ORPHA:71526
HP:0000821	Hypothyroidism	91147	TMEM67	OMIM:602152
HP:0000821	Hypothyroidism	7201	TRHR	ORPHA:99832
HP:0000821	Hypothyroidism	3170	FOXA2	ORPHA:95494
HP:0000821	Hypothyroidism	5015	OTX2	ORPHA:95494
HP:0000821	Hypothyroidism	283987	HID1	OMIM:619983
HP:0000821	Hypothyroidism	4221	MEN1	ORPHA:2965
HP:0000821	Hypothyroidism	64072	CDH23	ORPHA:2965
HP:0000821	Hypothyroidism	9049	AIP	ORPHA:2965
HP:0000821	Hypothyroidism	3952	LEP	ORPHA:66628
HP:0000821	Hypothyroidism	9915	ARNT2	OMIM:615926
HP:0000821	Hypothyroidism	5456	POU3F4	ORPHA:1435
HP:0000821	Hypothyroidism	1499	CTNNB1	ORPHA:54595
HP:0000821	Hypothyroidism	673	BRAF	ORPHA:54595
HP:0000821	Hypothyroidism	6638	SNRPN	ORPHA:177904
HP:0000821	Hypothyroidism	6638	SNRPN	ORPHA:177901
HP:0000821	Hypothyroidism	6638	SNRPN	ORPHA:98754
HP:0000821	Hypothyroidism	4692	NDN	ORPHA:177904
HP:0000821	Hypothyroidism	4692	NDN	ORPHA:177901
HP:0000821	Hypothyroidism	4692	NDN	ORPHA:98754
HP:0000821	Hypothyroidism	54551	MAGEL2	ORPHA:177904
HP:0000821	Hypothyroidism	54551	MAGEL2	ORPHA:177901
HP:0000821	Hypothyroidism	54551	MAGEL2	ORPHA:398069
HP:0000821	Hypothyroidism	54551	MAGEL2	ORPHA:98754
HP:0000821	Hypothyroidism	4948	OCA2	ORPHA:177904
HP:0000821	Hypothyroidism	4948	OCA2	ORPHA:177901
HP:0000821	Hypothyroidism	4948	OCA2	ORPHA:98754
HP:0000821	Hypothyroidism	6134	RPL10	OMIM:300998
HP:0000821	Hypothyroidism	340533	NEXMIF	OMIM:300912
HP:0000821	Hypothyroidism	23247	KATNIP	OMIM:616784
HP:0000821	Hypothyroidism	23312	DMXL2	ORPHA:453533
HP:0000821	Hypothyroidism	23312	DMXL2	OMIM:616113
HP:0000821	Hypothyroidism	10735	STAG2	ORPHA:220386
HP:0000821	Hypothyroidism	10735	STAG2	ORPHA:93925
HP:0000821	Hypothyroidism	8243	SMC1A	ORPHA:220386
HP:0000821	Hypothyroidism	6491	STIL	ORPHA:220386
HP:0000821	Hypothyroidism	6491	STIL	ORPHA:93926
HP:0000821	Hypothyroidism	6491	STIL	ORPHA:93924
HP:0000821	Hypothyroidism	6491	STIL	ORPHA:93925
HP:0000821	Hypothyroidism	8471	IRS4	OMIM:301035
HP:0000821	Hypothyroidism	6907	TBL1X	OMIM:301033
HP:0000821	Hypothyroidism	51199	NIN	OMIM:614851
HP:0000821	Hypothyroidism	6492	SIM1	ORPHA:398079
HP:0000821	Hypothyroidism	1363	CPE	OMIM:619326
HP:0000821	Hypothyroidism	23007	PLCH1	ORPHA:93925
HP:0000821	Hypothyroidism	26040	SETBP1	ORPHA:798
HP:0008205	Insulin-dependent but ketosis-resistant diabetes	11330	CTRC	ORPHA:103918
HP:0008205	Insulin-dependent but ketosis-resistant diabetes	6690	SPINK1	ORPHA:103918
HP:0008205	Insulin-dependent but ketosis-resistant diabetes	6690	SPINK1	OMIM:608189
HP:0008208	Parathyroid hyperplasia	5979	RET	OMIM:162300
HP:0008208	Parathyroid hyperplasia	4221	MEN1	ORPHA:652
HP:0008208	Parathyroid hyperplasia	1027	CDKN1B	ORPHA:652
HP:0008208	Parathyroid hyperplasia	1027	CDKN1B	ORPHA:276152
HP:0008208	Parathyroid hyperplasia	1026	CDKN1A	ORPHA:652
HP:0008208	Parathyroid hyperplasia	1030	CDKN2B	ORPHA:652
HP:0008208	Parathyroid hyperplasia	1031	CDKN2C	ORPHA:652
HP:0008208	Parathyroid hyperplasia	3458	IFNG	ORPHA:805
HP:0008208	Parathyroid hyperplasia	7248	TSC1	ORPHA:805
HP:0008208	Parathyroid hyperplasia	7249	TSC2	ORPHA:805
HP:0008208	Parathyroid hyperplasia	9365	KL	OMIM:617994
HP:0001090	Abnormally large globe	7837	PXDN	OMIM:269400
HP:0001090	Abnormally large globe	2776	GNAQ	OMIM:185300
HP:0001090	Abnormally large globe	220202	ATOH7	OMIM:221900
HP:0001090	Abnormally large globe	220202	ATOH7	ORPHA:91495
HP:0001090	Abnormally large globe	285590	SH3PXD2B	OMIM:249420
HP:0001090	Abnormally large globe	29954	POMT2	OMIM:613150
HP:0001090	Abnormally large globe	29954	POMT2	OMIM:236670
HP:0001090	Abnormally large globe	2530	FUT8	OMIM:618005
HP:0001090	Abnormally large globe	54892	NCAPG2	OMIM:618460
HP:0001090	Abnormally large globe	92949	ADAMTSL1	ORPHA:521445
HP:0001090	Abnormally large globe	1545	CYP1B1	OMIM:231300
HP:0001090	Abnormally large globe	169792	GLIS3	OMIM:610199
HP:0001090	Abnormally large globe	7291	TWIST1	OMIM:101400
HP:0001090	Abnormally large globe	2263	FGFR2	OMIM:101400
HP:0001090	Abnormally large globe	4081	MAB21L1	OMIM:618479
HP:0001090	Abnormally large globe	1605	DAG1	OMIM:616538
HP:0001090	Abnormally large globe	1605	DAG1	ORPHA:370997
HP:0001090	Abnormally large globe	55624	POMGNT1	OMIM:253280
HP:0001090	Abnormally large globe	4693	NDP	OMIM:310600
HP:0001090	Abnormally large globe	4693	NDP	ORPHA:91495
HP:0001090	Abnormally large globe	81846	SBF2	ORPHA:99956
HP:0001090	Abnormally large globe	8322	FZD4	ORPHA:91495
HP:0001090	Abnormally large globe	4990	SIX6	OMIM:212550
HP:0001090	Abnormally large globe	4952	OCRL	ORPHA:534
HP:0001090	Abnormally large globe	4053	LTBP2	OMIM:251750
HP:0001090	Abnormally large globe	9215	LARGE1	OMIM:236670
HP:0001090	Abnormally large globe	79147	FKRP	OMIM:236670
HP:0001090	Abnormally large globe	10585	POMT1	OMIM:236670
HP:0001090	Abnormally large globe	2218	FKTN	OMIM:236670
HP:0001090	Abnormally large globe	5728	PTEN	ORPHA:744
HP:0001090	Abnormally large globe	207	AKT1	ORPHA:744
HP:0001090	Abnormally large globe	9469	CHST3	OMIM:245600
HP:0001090	Abnormally large globe	26229	B3GAT3	OMIM:245600
HP:0001090	Abnormally large globe	5296	PIK3R2	OMIM:603387
HP:0001090	Abnormally large globe	1280	COL2A1	OMIM:200610
HP:0001090	Abnormally large globe	3763	KCNJ6	ORPHA:435628
HP:0001090	Abnormally large globe	3763	KCNJ6	OMIM:614098
HP:0001090	Abnormally large globe	170302	ARX	OMIM:300004
HP:0001090	Abnormally large globe	3758	KCNJ1	OMIM:241200
HP:0001090	Abnormally large globe	22856	CHSY1	ORPHA:363417
HP:0001090	Abnormally large globe	545	ATR	OMIM:210600
HP:0001090	Abnormally large globe	8573	CASK	OMIM:300749
HP:0001090	Abnormally large globe	84197	POMK	OMIM:615249
HP:0001090	Abnormally large globe	91801	ALKBH8	OMIM:618504
HP:0001090	Abnormally large globe	55650	PIGV	OMIM:239300
HP:0001090	Abnormally large globe	29894	CPSF1	OMIM:618827
HP:0001090	Abnormally large globe	80232	WDR26	ORPHA:513456
HP:0001090	Abnormally large globe	2200	FBN1	OMIM:154700
HP:0001090	Abnormally large globe	4043	LRPAP1	OMIM:615431
HP:0001092	Absent lacrimal punctum	2255	FGF10	OMIM:620193
HP:0001092	Absent lacrimal punctum	2255	FGF10	ORPHA:2363
HP:0001092	Absent lacrimal punctum	2255	FGF10	OMIM:180920
HP:0001092	Absent lacrimal punctum	2261	FGFR3	OMIM:620192
HP:0001092	Absent lacrimal punctum	2261	FGFR3	ORPHA:2363
HP:0001092	Absent lacrimal punctum	197131	UBR1	OMIM:243800
HP:0001092	Absent lacrimal punctum	197131	UBR1	ORPHA:2315
HP:0001092	Absent lacrimal punctum	8626	TP63	ORPHA:69085
HP:0001092	Absent lacrimal punctum	8626	TP63	OMIM:129400
HP:0001092	Absent lacrimal punctum	2263	FGFR2	OMIM:149730
HP:0001092	Absent lacrimal punctum	2263	FGFR2	ORPHA:2363
HP:0001093	Optic nerve dysplasia	5076	PAX2	ORPHA:1475
HP:0001093	Optic nerve dysplasia	5828	PEX2	OMIM:614866
HP:0001093	Optic nerve dysplasia	673	BRAF	OMIM:115150
HP:0001093	Optic nerve dysplasia	27151	CPAMD8	OMIM:617319
HP:0001093	Optic nerve dysplasia	57498	KIDINS220	OMIM:617296
HP:0001093	Optic nerve dysplasia	11041	B4GAT1	OMIM:615287
HP:0001093	Optic nerve dysplasia	5830	PEX5	OMIM:214110
HP:0001094	Iridocyclitis	10273	STUB1	ORPHA:412057
HP:0001094	Iridocyclitis	3123	HLA-DRB1	OMIM:181000
HP:0001094	Iridocyclitis	6775	STAT4	ORPHA:85408
HP:0001094	Iridocyclitis	3560	IL2RB	ORPHA:85408
HP:0001094	Iridocyclitis	79722	ANKRD55	ORPHA:85408
HP:0001094	Iridocyclitis	26191	PTPN22	ORPHA:85408
HP:0001094	Iridocyclitis	919	CD247	ORPHA:85408
HP:0001094	Iridocyclitis	3559	IL2RA	ORPHA:85408
HP:0001094	Iridocyclitis	5771	PTPN2	ORPHA:85408
HP:0001094	Iridocyclitis	326	AIRE	OMIM:240300
HP:0001094	Iridocyclitis	64127	NOD2	ORPHA:90340
HP:0001095	Hypertensive retinopathy	3291	HSD11B2	ORPHA:320
HP:0001095	Hypertensive retinopathy	3291	HSD11B2	OMIM:218030
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:892
HP:0001095	Hypertensive retinopathy	7428	VHL	OMIM:171300
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:29072
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:276621
HP:0001095	Hypertensive retinopathy	595	CCND1	ORPHA:892
HP:0001095	Hypertensive retinopathy	55654	TMEM127	OMIM:171300
HP:0001095	Hypertensive retinopathy	55654	TMEM127	ORPHA:29072
HP:0001095	Hypertensive retinopathy	5979	RET	OMIM:171300
HP:0001095	Hypertensive retinopathy	5979	RET	ORPHA:29072
HP:0001095	Hypertensive retinopathy	5979	RET	ORPHA:276621
HP:0001095	Hypertensive retinopathy	6390	SDHB	OMIM:171300
HP:0001095	Hypertensive retinopathy	6390	SDHB	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6390	SDHB	ORPHA:276621
HP:0001095	Hypertensive retinopathy	6392	SDHD	OMIM:171300
HP:0001095	Hypertensive retinopathy	6392	SDHD	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6392	SDHD	ORPHA:276621
HP:0001095	Hypertensive retinopathy	4149	MAX	OMIM:171300
HP:0001095	Hypertensive retinopathy	4149	MAX	ORPHA:29072
HP:0001095	Hypertensive retinopathy	1743	DLST	ORPHA:29072
HP:0001095	Hypertensive retinopathy	4191	MDH2	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6389	SDHA	ORPHA:29072
HP:0001095	Hypertensive retinopathy	23095	KIF1B	ORPHA:29072
HP:0001095	Hypertensive retinopathy	2271	FH	ORPHA:29072
HP:0001095	Hypertensive retinopathy	8402	SLC25A11	ORPHA:29072
HP:0001095	Hypertensive retinopathy	54949	SDHAF2	ORPHA:29072
HP:0001095	Hypertensive retinopathy	4763	NF1	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6391	SDHC	ORPHA:29072
HP:0001095	Hypertensive retinopathy	1788	DNMT3A	ORPHA:276621
HP:0001095	Hypertensive retinopathy	2034	EPAS1	ORPHA:276621
HP:0001096	Keratoconjunctivitis	6720	SREBF1	OMIM:158310
HP:0001096	Keratoconjunctivitis	2263	FGFR2	ORPHA:2363
HP:0001096	Keratoconjunctivitis	2261	FGFR3	ORPHA:2363
HP:0001096	Keratoconjunctivitis	2255	FGF10	ORPHA:2363
HP:0001096	Keratoconjunctivitis	3141	HLCS	ORPHA:79242
HP:0001096	Keratoconjunctivitis	7390	UROS	ORPHA:79277
HP:0001096	Keratoconjunctivitis	2623	GATA1	ORPHA:79277
HP:0001096	Keratoconjunctivitis	326	AIRE	OMIM:240300
HP:0001096	Keratoconjunctivitis	7389	UROD	ORPHA:95159
HP:0001096	Keratoconjunctivitis	6335	SCN9A	OMIM:133020
HP:0001096	Keratoconjunctivitis	10804	GJB6	ORPHA:477
HP:0001096	Keratoconjunctivitis	2706	GJB2	ORPHA:477
HP:0001096	Keratoconjunctivitis	2706	GJB2	OMIM:148210
HP:0001096	Keratoconjunctivitis	54941	RNF125	OMIM:616260
HP:0001096	Keratoconjunctivitis	55699	IARS2	OMIM:616007
HP:0001096	Keratoconjunctivitis	1161	ERCC8	ORPHA:90324
HP:0001096	Keratoconjunctivitis	2074	ERCC6	ORPHA:90324
HP:0001096	Keratoconjunctivitis	404672	GTF2H5	ORPHA:33364
HP:0001096	Keratoconjunctivitis	833	CARS1	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2068	ERCC2	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2068	ERCC2	OMIM:601675
HP:0001096	Keratoconjunctivitis	2068	ERCC2	OMIM:278730
HP:0001096	Keratoconjunctivitis	7737	RNF113A	ORPHA:33364
HP:0001096	Keratoconjunctivitis	136647	MPLKIP	ORPHA:33364
HP:0001096	Keratoconjunctivitis	136647	MPLKIP	OMIM:234050
HP:0001096	Keratoconjunctivitis	6897	TARS1	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2071	ERCC3	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2961	GTF2E2	ORPHA:33364
HP:0001096	Keratoconjunctivitis	1308	COL17A1	ORPHA:293381
HP:0001096	Keratoconjunctivitis	4547	MTTP	ORPHA:14
HP:0001096	Keratoconjunctivitis	2934	GSN	ORPHA:85448
HP:0001096	Keratoconjunctivitis	22861	NLRP1	OMIM:617388
HP:0001096	Keratoconjunctivitis	64127	NOD2	OMIM:617321
HP:0001096	Keratoconjunctivitis	4081	MAB21L1	OMIM:618479
HP:0001096	Keratoconjunctivitis	3930	LBR	ORPHA:779
HP:0001096	Keratoconjunctivitis	2200	FBN1	OMIM:616914
HP:0001096	Keratoconjunctivitis	165	AEBP1	ORPHA:536532
HP:0001096	Keratoconjunctivitis	56244	BTNL2	ORPHA:797
HP:0001096	Keratoconjunctivitis	3123	HLA-DRB1	ORPHA:797
HP:0001096	Keratoconjunctivitis	149233	IL23R	ORPHA:117
HP:0001096	Keratoconjunctivitis	6775	STAT4	ORPHA:117
HP:0001096	Keratoconjunctivitis	3586	IL10	ORPHA:117
HP:0001096	Keratoconjunctivitis	4210	MEFV	ORPHA:117
HP:0001096	Keratoconjunctivitis	1230	CCR1	ORPHA:117
HP:0001096	Keratoconjunctivitis	355	FAS	ORPHA:117
HP:0001096	Keratoconjunctivitis	3592	IL12A	ORPHA:117
HP:0001096	Keratoconjunctivitis	101928376	IL12A-AS1	ORPHA:117
HP:0001096	Keratoconjunctivitis	3106	HLA-B	ORPHA:117
HP:0001096	Keratoconjunctivitis	7099	TLR4	ORPHA:117
HP:0001096	Keratoconjunctivitis	3459	IFNGR1	ORPHA:117
HP:0001096	Keratoconjunctivitis	720	C4A	ORPHA:117
HP:0001096	Keratoconjunctivitis	337867	UBAC2	ORPHA:117
HP:0001096	Keratoconjunctivitis	51752	ERAP1	ORPHA:117
HP:0001096	Keratoconjunctivitis	8302	KLRC4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	6335	SCN9A	OMIM:133020
HP:0001097	Keratoconjunctivitis sicca	10804	GJB6	ORPHA:477
HP:0001097	Keratoconjunctivitis sicca	2706	GJB2	ORPHA:477
HP:0001097	Keratoconjunctivitis sicca	2706	GJB2	OMIM:148210
HP:0001097	Keratoconjunctivitis sicca	6720	SREBF1	OMIM:619016
HP:0001097	Keratoconjunctivitis sicca	54941	RNF125	OMIM:616260
HP:0001097	Keratoconjunctivitis sicca	55699	IARS2	OMIM:616007
HP:0001097	Keratoconjunctivitis sicca	1161	ERCC8	ORPHA:90324
HP:0001097	Keratoconjunctivitis sicca	2074	ERCC6	ORPHA:90324
HP:0001097	Keratoconjunctivitis sicca	404672	GTF2H5	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	833	CARS1	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	OMIM:601675
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	OMIM:278730
HP:0001097	Keratoconjunctivitis sicca	7737	RNF113A	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	136647	MPLKIP	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	136647	MPLKIP	OMIM:234050
HP:0001097	Keratoconjunctivitis sicca	6897	TARS1	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2071	ERCC3	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2961	GTF2E2	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	1308	COL17A1	ORPHA:293381
HP:0001097	Keratoconjunctivitis sicca	4547	MTTP	ORPHA:14
HP:0001097	Keratoconjunctivitis sicca	2934	GSN	ORPHA:85448
HP:0001097	Keratoconjunctivitis sicca	22861	NLRP1	OMIM:617388
HP:0001097	Keratoconjunctivitis sicca	64127	NOD2	OMIM:617321
HP:0001097	Keratoconjunctivitis sicca	4081	MAB21L1	OMIM:618479
HP:0001097	Keratoconjunctivitis sicca	2263	FGFR2	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	2261	FGFR3	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	2255	FGF10	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	3930	LBR	ORPHA:779
HP:0001097	Keratoconjunctivitis sicca	2200	FBN1	OMIM:616914
HP:0001097	Keratoconjunctivitis sicca	165	AEBP1	ORPHA:536532
HP:0001097	Keratoconjunctivitis sicca	56244	BTNL2	ORPHA:797
HP:0001097	Keratoconjunctivitis sicca	3123	HLA-DRB1	ORPHA:797
HP:0001097	Keratoconjunctivitis sicca	149233	IL23R	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	6775	STAT4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3586	IL10	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	4210	MEFV	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	1230	CCR1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	355	FAS	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3592	IL12A	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	101928376	IL12A-AS1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3106	HLA-B	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	7099	TLR4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3459	IFNGR1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	720	C4A	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	337867	UBAC2	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	51752	ERAP1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	8302	KLRC4	ORPHA:117
HP:0001098	Abnormal fundus morphology	85300	ATCAY	OMIM:601238
HP:0001098	Abnormal fundus morphology	85300	ATCAY	ORPHA:94122
HP:0001098	Abnormal fundus morphology	611	OPN1SW	ORPHA:88629
HP:0001098	Abnormal fundus morphology	112802	KRT71	ORPHA:170
HP:0001098	Abnormal fundus morphology	121391	KRT74	ORPHA:170
HP:0001098	Abnormal fundus morphology	200879	LIPH	ORPHA:170
HP:0001098	Abnormal fundus morphology	10161	LPAR6	ORPHA:170
HP:0001098	Abnormal fundus morphology	147183	KRT25	ORPHA:170
HP:0001098	Abnormal fundus morphology	5649	RELN	ORPHA:89844
HP:0001098	Abnormal fundus morphology	10300	KATNB1	ORPHA:89844
HP:0001098	Abnormal fundus morphology	65250	CPLANE1	OMIM:614615
HP:0001098	Abnormal fundus morphology	4123	MAN2C1	OMIM:619775
HP:0001098	Abnormal fundus morphology	9158	FIBP	ORPHA:500095
HP:0001098	Abnormal fundus morphology	9158	FIBP	OMIM:617107
HP:0001098	Abnormal fundus morphology	9487	PIGL	OMIM:280000
HP:0001098	Abnormal fundus morphology	9487	PIGL	ORPHA:3474
HP:0001098	Abnormal fundus morphology	2248	FGF3	ORPHA:2791
HP:0001098	Abnormal fundus morphology	57167	SALL4	OMIM:607323
HP:0001098	Abnormal fundus morphology	7020	TFAP2A	OMIM:113620
HP:0001098	Abnormal fundus morphology	26173	INTS1	OMIM:618571
HP:0001098	Abnormal fundus morphology	95681	CEP41	ORPHA:220493
HP:0001098	Abnormal fundus morphology	6297	SALL2	OMIM:216820
HP:0001098	Abnormal fundus morphology	3767	KCNJ11	ORPHA:552
HP:0001098	Abnormal fundus morphology	3767	KCNJ11	ORPHA:99885
HP:0001098	Abnormal fundus morphology	8462	KLF11	ORPHA:552
HP:0001098	Abnormal fundus morphology	2645	GCK	ORPHA:552
HP:0001098	Abnormal fundus morphology	2645	GCK	ORPHA:99885
HP:0001098	Abnormal fundus morphology	26060	APPL1	ORPHA:552
HP:0001098	Abnormal fundus morphology	640	BLK	ORPHA:552
HP:0001098	Abnormal fundus morphology	1056	CEL	ORPHA:552
HP:0001098	Abnormal fundus morphology	4760	NEUROD1	ORPHA:552
HP:0001098	Abnormal fundus morphology	3651	PDX1	ORPHA:552
HP:0001098	Abnormal fundus morphology	3651	PDX1	ORPHA:99885
HP:0001098	Abnormal fundus morphology	6833	ABCC8	ORPHA:552
HP:0001098	Abnormal fundus morphology	6833	ABCC8	ORPHA:99885
HP:0001098	Abnormal fundus morphology	5078	PAX4	ORPHA:552
HP:0001098	Abnormal fundus morphology	3172	HNF4A	ORPHA:552
HP:0001098	Abnormal fundus morphology	6927	HNF1A	ORPHA:552
HP:0001098	Abnormal fundus morphology	3630	INS	ORPHA:552
HP:0001098	Abnormal fundus morphology	3630	INS	ORPHA:99885
HP:0001098	Abnormal fundus morphology	1493	CTLA4	ORPHA:900
HP:0001098	Abnormal fundus morphology	3115	HLA-DPB1	ORPHA:900
HP:0001098	Abnormal fundus morphology	5657	PRTN3	ORPHA:900
HP:0001098	Abnormal fundus morphology	3113	HLA-DPA1	ORPHA:900
HP:0001098	Abnormal fundus morphology	3425	IDUA	ORPHA:93473
HP:0001098	Abnormal fundus morphology	5627	PROS1	ORPHA:743
HP:0001098	Abnormal fundus morphology	4556	MT-TE	ORPHA:225
HP:0001098	Abnormal fundus morphology	3043	HBB	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3043	HBB	OMIM:603903
HP:0001098	Abnormal fundus morphology	53335	BCL11A	ORPHA:251380
HP:0001098	Abnormal fundus morphology	10661	KLF1	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3047	HBG1	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3048	HBG2	ORPHA:251380
HP:0001098	Abnormal fundus morphology	1387	CREBBP	ORPHA:353281
HP:0001098	Abnormal fundus morphology	8314	BAP1	ORPHA:618
HP:0001098	Abnormal fundus morphology	1019	CDK4	ORPHA:618
HP:0001098	Abnormal fundus morphology	4255	MGMT	ORPHA:618
HP:0001098	Abnormal fundus morphology	54386	TERF2IP	ORPHA:618
HP:0001098	Abnormal fundus morphology	65057	ACD	ORPHA:618
HP:0001098	Abnormal fundus morphology	1029	CDKN2A	ORPHA:618
HP:0001098	Abnormal fundus morphology	7015	TERT	ORPHA:618
HP:0001098	Abnormal fundus morphology	25913	POT1	ORPHA:618
HP:0001098	Abnormal fundus morphology	1030	CDKN2B	ORPHA:618
HP:0001098	Abnormal fundus morphology	51128	SAR1B	ORPHA:71
HP:0001098	Abnormal fundus morphology	6774	STAT3	ORPHA:99885
HP:0001098	Abnormal fundus morphology	3643	INSR	ORPHA:769
HP:0001098	Abnormal fundus morphology	3593	IL12B	ORPHA:3287
HP:0001098	Abnormal fundus morphology	6945	MLX	ORPHA:3287
HP:0001098	Abnormal fundus morphology	5727	PTCH1	ORPHA:77301
HP:0001098	Abnormal fundus morphology	641	BLM	ORPHA:125
HP:0001098	Abnormal fundus morphology	375056	MIA3	OMIM:619269
HP:0001098	Abnormal fundus morphology	9907	AP5Z1	ORPHA:306511
HP:0001098	Abnormal fundus morphology	9907	AP5Z1	OMIM:613647
HP:0001098	Abnormal fundus morphology	1301	COL11A1	ORPHA:90654
HP:0001098	Abnormal fundus morphology	203068	TUBB	ORPHA:2505
HP:0001098	Abnormal fundus morphology	10982	MAPRE2	ORPHA:2505
HP:0001098	Abnormal fundus morphology	22954	TRIM32	OMIM:615988
HP:0001098	Abnormal fundus morphology	79158	GNPTAB	OMIM:252600
HP:0001098	Abnormal fundus morphology	65217	PCDH15	OMIM:601067
HP:0001098	Abnormal fundus morphology	65217	PCDH15	OMIM:602083
HP:0001098	Abnormal fundus morphology	64072	CDH23	OMIM:601067
HP:0001098	Abnormal fundus morphology	64072	CDH23	OMIM:601386
HP:0001098	Abnormal fundus morphology	261734	NPHP4	OMIM:606996
HP:0001098	Abnormal fundus morphology	25970	SH2B1	ORPHA:261222
HP:0001098	Abnormal fundus morphology	91452	ACBD5	OMIM:618863
HP:0001098	Abnormal fundus morphology	5949	RBP3	OMIM:615233
HP:0001098	Abnormal fundus morphology	5949	RBP3	OMIM:268000
HP:0001098	Abnormal fundus morphology	583	BBS2	OMIM:616562
HP:0001098	Abnormal fundus morphology	583	BBS2	OMIM:615981
HP:0001098	Abnormal fundus morphology	4598	MVK	OMIM:260920
HP:0001098	Abnormal fundus morphology	2677	GGCX	ORPHA:436274
HP:0001098	Abnormal fundus morphology	6010	RHO	OMIM:613731
HP:0001098	Abnormal fundus morphology	755	CFAP410	OMIM:602271
HP:0001098	Abnormal fundus morphology	130557	ZNF513	OMIM:613617
HP:0001098	Abnormal fundus morphology	6094	ROM1	OMIM:608133
HP:0001098	Abnormal fundus morphology	6094	ROM1	OMIM:268000
HP:0001098	Abnormal fundus morphology	91147	TMEM67	OMIM:602152
HP:0001098	Abnormal fundus morphology	91147	TMEM67	ORPHA:140976
HP:0001098	Abnormal fundus morphology	91147	TMEM67	OMIM:615991
HP:0001098	Abnormal fundus morphology	23126	POGZ	ORPHA:468678
HP:0001098	Abnormal fundus morphology	23126	POGZ	OMIM:616364
HP:0001098	Abnormal fundus morphology	4535	MT-ND1	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4536	MT-ND2	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4537	MT-ND3	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4538	MT-ND4	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4567	MT-TL1	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4578	MT-TW	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4577	MT-TV	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4508	MT-ATP6	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4508	MT-ATP6	OMIM:551500
HP:0001098	Abnormal fundus morphology	4508	MT-ATP6	ORPHA:644
HP:0001098	Abnormal fundus morphology	4540	MT-ND5	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4541	MT-ND6	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4566	MT-TK	ORPHA:255210
HP:0001098	Abnormal fundus morphology	8842	PROM1	OMIM:612095
HP:0001098	Abnormal fundus morphology	6311	ATXN2	OMIM:183090
HP:0001098	Abnormal fundus morphology	24148	PRPF6	OMIM:613983
HP:0001098	Abnormal fundus morphology	92840	REEP6	OMIM:617304
HP:0001098	Abnormal fundus morphology	10461	MERTK	OMIM:613862
HP:0001098	Abnormal fundus morphology	79947	DHDDS	OMIM:613861
HP:0001098	Abnormal fundus morphology	9128	PRPF4	OMIM:615922
HP:0001098	Abnormal fundus morphology	57545	CC2D2A	OMIM:619845
HP:0001098	Abnormal fundus morphology	768206	PRCD	OMIM:610599
HP:0001098	Abnormal fundus morphology	84140	FAM161A	OMIM:606068
HP:0001098	Abnormal fundus morphology	23020	SNRNP200	OMIM:610359
HP:0001098	Abnormal fundus morphology	4646	MYO6	OMIM:607821
HP:0001098	Abnormal fundus morphology	7439	BEST1	OMIM:613194
HP:0001098	Abnormal fundus morphology	6103	RPGR	OMIM:300455
HP:0001098	Abnormal fundus morphology	6103	RPGR	ORPHA:244
HP:0001098	Abnormal fundus morphology	6103	RPGR	OMIM:300029
HP:0001098	Abnormal fundus morphology	4901	NRL	OMIM:613750
HP:0001098	Abnormal fundus morphology	1259	CNGA1	OMIM:613756
HP:0001098	Abnormal fundus morphology	1259	CNGA1	OMIM:268000
HP:0001098	Abnormal fundus morphology	51109	RDH11	OMIM:616108
HP:0001098	Abnormal fundus morphology	51109	RDH11	ORPHA:436245
HP:0001098	Abnormal fundus morphology	84100	ARL6	OMIM:209900
HP:0001098	Abnormal fundus morphology	84100	ARL6	OMIM:600151
HP:0001098	Abnormal fundus morphology	84100	ARL6	OMIM:613575
HP:0001098	Abnormal fundus morphology	84100	ARL6	OMIM:268000
HP:0001098	Abnormal fundus morphology	79140	CCDC28B	OMIM:209900
HP:0001098	Abnormal fundus morphology	582	BBS1	OMIM:209900
HP:0001098	Abnormal fundus morphology	6295	SAG	OMIM:613758
HP:0001098	Abnormal fundus morphology	6295	SAG	OMIM:620228
HP:0001098	Abnormal fundus morphology	6295	SAG	ORPHA:75382
HP:0001098	Abnormal fundus morphology	1509	CTSD	OMIM:610127
HP:0001098	Abnormal fundus morphology	6100	RP9	OMIM:180104
HP:0001098	Abnormal fundus morphology	3614	IMPDH1	OMIM:180105
HP:0001098	Abnormal fundus morphology	24	ABCA4	OMIM:601718
HP:0001098	Abnormal fundus morphology	26090	ABHD12	OMIM:612674
HP:0001098	Abnormal fundus morphology	10352	WARS2	ORPHA:572798
HP:0001098	Abnormal fundus morphology	10352	WARS2	OMIM:617710
HP:0001098	Abnormal fundus morphology	55012	PPP2R3C	OMIM:618419
HP:0001098	Abnormal fundus morphology	1201	CLN3	OMIM:204200
HP:0001098	Abnormal fundus morphology	1258	CNGB1	OMIM:613767
HP:0001098	Abnormal fundus morphology	5995	RGR	OMIM:613769
HP:0001098	Abnormal fundus morphology	5373	PMM2	OMIM:212065
HP:0001098	Abnormal fundus morphology	5373	PMM2	ORPHA:79318
HP:0001098	Abnormal fundus morphology	491	ATP2B2	OMIM:601386
HP:0001098	Abnormal fundus morphology	1798	DPAGT1	ORPHA:86309
HP:0001098	Abnormal fundus morphology	7401	CLRN1	OMIM:614180
HP:0001098	Abnormal fundus morphology	7401	CLRN1	OMIM:268000
HP:0001098	Abnormal fundus morphology	7401	CLRN1	OMIM:276902
HP:0001098	Abnormal fundus morphology	10594	PRPF8	OMIM:600059
HP:0001098	Abnormal fundus morphology	25794	FSCN2	OMIM:607921
HP:0001098	Abnormal fundus morphology	4117	MAK	OMIM:614181
HP:0001098	Abnormal fundus morphology	5190	PEX6	OMIM:614863
HP:0001098	Abnormal fundus morphology	5190	PEX6	ORPHA:772
HP:0001098	Abnormal fundus morphology	5828	PEX2	OMIM:614866
HP:0001098	Abnormal fundus morphology	5828	PEX2	OMIM:614867
HP:0001098	Abnormal fundus morphology	5828	PEX2	ORPHA:772
HP:0001098	Abnormal fundus morphology	3098	HK1	OMIM:618547
HP:0001098	Abnormal fundus morphology	4191	MDH2	OMIM:617339
HP:0001098	Abnormal fundus morphology	6134	RPL10	ORPHA:459070
HP:0001098	Abnormal fundus morphology	6134	RPL10	OMIM:300998
HP:0001098	Abnormal fundus morphology	10518	CIB2	OMIM:614869
HP:0001098	Abnormal fundus morphology	6101	RP1	OMIM:180100
HP:0001098	Abnormal fundus morphology	124590	USH1G	OMIM:606943
HP:0001098	Abnormal fundus morphology	402	ARL2	OMIM:619082
HP:0001098	Abnormal fundus morphology	92211	CDHR1	OMIM:613660
HP:0001098	Abnormal fundus morphology	3420	IDH3B	OMIM:612572
HP:0001098	Abnormal fundus morphology	57709	SLC7A14	OMIM:615725
HP:0001098	Abnormal fundus morphology	388939	PCARE	OMIM:613428
HP:0001098	Abnormal fundus morphology	5191	PEX7	OMIM:614879
HP:0001098	Abnormal fundus morphology	5191	PEX7	OMIM:266500
HP:0001098	Abnormal fundus morphology	80025	PANK2	OMIM:607236
HP:0001098	Abnormal fundus morphology	80025	PANK2	ORPHA:216866
HP:0001098	Abnormal fundus morphology	7355	SLC35A2	OMIM:300896
HP:0001098	Abnormal fundus morphology	9319	TRIP13	OMIM:617598
HP:0001098	Abnormal fundus morphology	50484	RRM2B	OMIM:268315
HP:0001098	Abnormal fundus morphology	64218	SEMA4A	OMIM:610282
HP:0001098	Abnormal fundus morphology	64218	SEMA4A	OMIM:610283
HP:0001098	Abnormal fundus morphology	7867	MAPKAPK3	OMIM:617111
HP:0001098	Abnormal fundus morphology	6121	RPE65	OMIM:613794
HP:0001098	Abnormal fundus morphology	10002	NR2E3	OMIM:611131
HP:0001098	Abnormal fundus morphology	2625	GATA3	ORPHA:2237
HP:0001098	Abnormal fundus morphology	2779	GNAT1	OMIM:616389
HP:0001098	Abnormal fundus morphology	80173	IFT74	OMIM:617119
HP:0001098	Abnormal fundus morphology	29929	ALG6	ORPHA:79320
HP:0001098	Abnormal fundus morphology	3166	HMX1	OMIM:612109
HP:0001098	Abnormal fundus morphology	25981	DNAH1	ORPHA:244
HP:0001098	Abnormal fundus morphology	115948	ODAD3	ORPHA:244
HP:0001098	Abnormal fundus morphology	54768	HYDIN	ORPHA:244
HP:0001098	Abnormal fundus morphology	352909	DNAAF3	ORPHA:244
HP:0001098	Abnormal fundus morphology	27148	STK36	ORPHA:244
HP:0001098	Abnormal fundus morphology	51314	NME8	ORPHA:244
HP:0001098	Abnormal fundus morphology	92749	DRC1	ORPHA:244
HP:0001098	Abnormal fundus morphology	54970	TTC12	ORPHA:244
HP:0001098	Abnormal fundus morphology	152110	NEK10	ORPHA:244
HP:0001098	Abnormal fundus morphology	8481	OFD1	ORPHA:244
HP:0001098	Abnormal fundus morphology	8481	OFD1	OMIM:300424
HP:0001098	Abnormal fundus morphology	8481	OFD1	OMIM:300804
HP:0001098	Abnormal fundus morphology	2302	FOXJ1	ORPHA:244
HP:0001098	Abnormal fundus morphology	221421	RSPH9	ORPHA:244
HP:0001098	Abnormal fundus morphology	85478	CCDC65	ORPHA:244
HP:0001098	Abnormal fundus morphology	55036	CCDC40	ORPHA:244
HP:0001098	Abnormal fundus morphology	51364	ZMYND10	ORPHA:244
HP:0001098	Abnormal fundus morphology	64446	DNAI2	ORPHA:244
HP:0001098	Abnormal fundus morphology	6674	SPAG1	ORPHA:244
HP:0001098	Abnormal fundus morphology	83544	DNAL1	ORPHA:244
HP:0001098	Abnormal fundus morphology	89765	RSPH1	ORPHA:244
HP:0001098	Abnormal fundus morphology	83538	ODAD4	ORPHA:244
HP:0001098	Abnormal fundus morphology	200373	CFAP221	ORPHA:244
HP:0001098	Abnormal fundus morphology	374407	DNAJB13	ORPHA:244
HP:0001098	Abnormal fundus morphology	55172	DNAAF2	ORPHA:244
HP:0001098	Abnormal fundus morphology	161582	DNAAF4	ORPHA:244
HP:0001098	Abnormal fundus morphology	2622	GAS8	ORPHA:244
HP:0001098	Abnormal fundus morphology	23639	DNAAF11	ORPHA:244
HP:0001098	Abnormal fundus morphology	27019	DNAI1	ORPHA:244
HP:0001098	Abnormal fundus morphology	345895	RSPH4A	ORPHA:244
HP:0001098	Abnormal fundus morphology	54919	DNAAF5	ORPHA:244
HP:0001098	Abnormal fundus morphology	388389	CCDC103	ORPHA:244
HP:0001098	Abnormal fundus morphology	93233	ODAD1	ORPHA:244
HP:0001098	Abnormal fundus morphology	55130	ODAD2	ORPHA:244
HP:0001098	Abnormal fundus morphology	1767	DNAH5	ORPHA:244
HP:0001098	Abnormal fundus morphology	83861	RSPH3	ORPHA:244
HP:0001098	Abnormal fundus morphology	345643	MCIDAS	ORPHA:244
HP:0001098	Abnormal fundus morphology	56683	CFAP298	ORPHA:244
HP:0001098	Abnormal fundus morphology	79925	SPEF2	ORPHA:244
HP:0001098	Abnormal fundus morphology	10309	CCNO	ORPHA:244
HP:0001098	Abnormal fundus morphology	115399	LRRC56	ORPHA:244
HP:0001098	Abnormal fundus morphology	139212	DNAAF6	ORPHA:244
HP:0001098	Abnormal fundus morphology	123872	DNAAF1	ORPHA:244
HP:0001098	Abnormal fundus morphology	85016	CFAP300	ORPHA:244
HP:0001098	Abnormal fundus morphology	339829	CCDC39	ORPHA:244
HP:0001098	Abnormal fundus morphology	8701	DNAH11	ORPHA:244
HP:0001098	Abnormal fundus morphology	1770	DNAH9	ORPHA:244
HP:0001098	Abnormal fundus morphology	246176	GAS2L2	ORPHA:244
HP:0001098	Abnormal fundus morphology	3329	HSPD1	ORPHA:100994
HP:0001098	Abnormal fundus morphology	3798	KIF5A	ORPHA:100991
HP:0001098	Abnormal fundus morphology	26160	IFT172	OMIM:616394
HP:0001098	Abnormal fundus morphology	26160	IFT172	OMIM:619471
HP:0001098	Abnormal fundus morphology	9742	IFT140	OMIM:266920
HP:0001098	Abnormal fundus morphology	25861	WHRN	OMIM:611383
HP:0001098	Abnormal fundus morphology	55212	BBS7	OMIM:615984
HP:0001098	Abnormal fundus morphology	123016	TTC8	OMIM:615985
HP:0001098	Abnormal fundus morphology	123016	TTC8	OMIM:613464
HP:0001098	Abnormal fundus morphology	585	BBS4	OMIM:615982
HP:0001098	Abnormal fundus morphology	129880	BBS5	OMIM:615983
HP:0001098	Abnormal fundus morphology	166379	BBS12	OMIM:615989
HP:0001098	Abnormal fundus morphology	27241	BBS9	OMIM:615986
HP:0001098	Abnormal fundus morphology	79738	BBS10	OMIM:615987
HP:0001098	Abnormal fundus morphology	7287	TULP1	OMIM:600132
HP:0001098	Abnormal fundus morphology	26121	PRPF31	OMIM:600138
HP:0001098	Abnormal fundus morphology	196	AHR	OMIM:618345
HP:0001098	Abnormal fundus morphology	80184	CEP290	OMIM:615991
HP:0001098	Abnormal fundus morphology	80184	CEP290	OMIM:610188
HP:0001098	Abnormal fundus morphology	80184	CEP290	OMIM:610189
HP:0001098	Abnormal fundus morphology	9785	DHX38	OMIM:618220
HP:0001098	Abnormal fundus morphology	54903	MKS1	OMIM:615990
HP:0001098	Abnormal fundus morphology	5193	PEX12	OMIM:266510
HP:0001098	Abnormal fundus morphology	5193	PEX12	ORPHA:772
HP:0001098	Abnormal fundus morphology	92482	BBIP1	OMIM:615995
HP:0001098	Abnormal fundus morphology	89891	DYNC2I2	OMIM:615633
HP:0001098	Abnormal fundus morphology	11020	IFT27	OMIM:615996
HP:0001098	Abnormal fundus morphology	10806	SDCCAG8	OMIM:615993
HP:0001098	Abnormal fundus morphology	54585	LZTFL1	OMIM:615994
HP:0001098	Abnormal fundus morphology	23600	AMACR	OMIM:614307
HP:0001098	Abnormal fundus morphology	9227	LRAT	OMIM:268000
HP:0001098	Abnormal fundus morphology	9227	LRAT	OMIM:613341
HP:0001098	Abnormal fundus morphology	5148	PDE6G	OMIM:268000
HP:0001098	Abnormal fundus morphology	5148	PDE6G	OMIM:613582
HP:0001098	Abnormal fundus morphology	23746	AIPL1	OMIM:268000
HP:0001098	Abnormal fundus morphology	1406	CRX	OMIM:268000
HP:0001098	Abnormal fundus morphology	5264	PHYH	OMIM:266500
HP:0001098	Abnormal fundus morphology	50939	IMPG2	OMIM:613581
HP:0001098	Abnormal fundus morphology	60509	AGBL5	OMIM:617023
HP:0001098	Abnormal fundus morphology	443	ASPA	ORPHA:314918
HP:0001098	Abnormal fundus morphology	346007	EYS	OMIM:602772
HP:0001098	Abnormal fundus morphology	4694	NDUFA1	OMIM:301020
HP:0001098	Abnormal fundus morphology	27235	COQ2	OMIM:607426
HP:0001098	Abnormal fundus morphology	28982	FLVCR1	ORPHA:88628
HP:0001098	Abnormal fundus morphology	28982	FLVCR1	OMIM:609033
HP:0001098	Abnormal fundus morphology	4704	NDUFA9	OMIM:618247
HP:0001098	Abnormal fundus morphology	5631	PRPS1	OMIM:311070
HP:0001098	Abnormal fundus morphology	8120	AP3B2	OMIM:617276
HP:0001098	Abnormal fundus morphology	55975	KLHL7	OMIM:612943
HP:0001098	Abnormal fundus morphology	55975	KLHL7	OMIM:617055
HP:0001098	Abnormal fundus morphology	26146	TRAF3IP1	OMIM:616629
HP:0001098	Abnormal fundus morphology	2232	FDXR	OMIM:617717
HP:0001098	Abnormal fundus morphology	6102	RP2	OMIM:312600
HP:0001098	Abnormal fundus morphology	4647	MYO7A	OMIM:276900
HP:0001098	Abnormal fundus morphology	10083	USH1C	OMIM:276900
HP:0001098	Abnormal fundus morphology	10083	USH1C	OMIM:276904
HP:0001098	Abnormal fundus morphology	4547	MTTP	ORPHA:14
HP:0001098	Abnormal fundus morphology	7399	USH2A	OMIM:276901
HP:0001098	Abnormal fundus morphology	7399	USH2A	OMIM:613809
HP:0001098	Abnormal fundus morphology	79955	PDZD7	OMIM:276901
HP:0001098	Abnormal fundus morphology	79955	PDZD7	OMIM:605472
HP:0001098	Abnormal fundus morphology	23418	CRB1	OMIM:600105
HP:0001098	Abnormal fundus morphology	55857	KIZ	OMIM:615780
HP:0001098	Abnormal fundus morphology	149461	CLDN19	OMIM:248190
HP:0001098	Abnormal fundus morphology	8195	MKKS	OMIM:605231
HP:0001098	Abnormal fundus morphology	5158	PDE6B	OMIM:613801
HP:0001098	Abnormal fundus morphology	3028	HSD17B10	ORPHA:391428
HP:0001098	Abnormal fundus morphology	84059	ADGRV1	OMIM:605472
HP:0001098	Abnormal fundus morphology	23568	ARL2BP	OMIM:615434
HP:0001098	Abnormal fundus morphology	9894	TELO2	ORPHA:488642
HP:0001098	Abnormal fundus morphology	338	APOB	OMIM:615558
HP:0001098	Abnormal fundus morphology	5145	PDE6A	OMIM:613810
HP:0001098	Abnormal fundus morphology	10283	CWC27	OMIM:250410
HP:0001098	Abnormal fundus morphology	10283	CWC27	ORPHA:166035
HP:0001098	Abnormal fundus morphology	6011	GRK1	ORPHA:75382
HP:0001098	Abnormal fundus morphology	9129	PRPF3	OMIM:601414
HP:0001098	Abnormal fundus morphology	5189	PEX1	OMIM:601539
HP:0001098	Abnormal fundus morphology	5189	PEX1	ORPHA:772
HP:0001098	Abnormal fundus morphology	4751	NEK2	OMIM:615565
HP:0001098	Abnormal fundus morphology	9371	KIF3B	OMIM:618955
HP:0001098	Abnormal fundus morphology	617	BCS1L	OMIM:124000
HP:0001098	Abnormal fundus morphology	2979	GUCA1B	OMIM:613827
HP:0001098	Abnormal fundus morphology	9657	IQCB1	OMIM:609254
HP:0001098	Abnormal fundus morphology	55670	PEX26	ORPHA:772
HP:0001098	Abnormal fundus morphology	5824	PEX19	ORPHA:772
HP:0001098	Abnormal fundus morphology	8504	PEX3	ORPHA:772
HP:0001098	Abnormal fundus morphology	9409	PEX16	ORPHA:772
HP:0001098	Abnormal fundus morphology	8799	PEX11B	ORPHA:772
HP:0001098	Abnormal fundus morphology	5830	PEX5	ORPHA:772
HP:0001098	Abnormal fundus morphology	5194	PEX13	ORPHA:772
HP:0001098	Abnormal fundus morphology	5195	PEX14	ORPHA:772
HP:0001098	Abnormal fundus morphology	5192	PEX10	ORPHA:772
HP:0001098	Abnormal fundus morphology	51	ACOX1	OMIM:264470
HP:0001098	Abnormal fundus morphology	403	ARL3	OMIM:618161
HP:0001098	Abnormal fundus morphology	403	ARL3	OMIM:618173
HP:0001098	Abnormal fundus morphology	10210	TOPORS	OMIM:609923
HP:0001098	Abnormal fundus morphology	57728	WDR19	OMIM:616307
HP:0001098	Abnormal fundus morphology	57728	WDR19	OMIM:614378
HP:0001098	Abnormal fundus morphology	253827	MSRB3	OMIM:613718
HP:0001098	Abnormal fundus morphology	79644	SRD5A3	ORPHA:324737
HP:0001098	Abnormal fundus morphology	23404	EXOSC2	OMIM:617763
HP:0001098	Abnormal fundus morphology	375298	CERKL	OMIM:608380
HP:0001098	Abnormal fundus morphology	6399	TRAPPC2	ORPHA:93284
HP:0001098	Abnormal fundus morphology	286053	NSMCE2	OMIM:617253
HP:0001098	Abnormal fundus morphology	286053	NSMCE2	ORPHA:436182
HP:0001098	Abnormal fundus morphology	5351	PLOD1	OMIM:225400
HP:0001098	Abnormal fundus morphology	5351	PLOD1	ORPHA:1900
HP:0001098	Abnormal fundus morphology	1859	DYRK1A	ORPHA:268261
HP:0001098	Abnormal fundus morphology	1859	DYRK1A	ORPHA:464311
HP:0001098	Abnormal fundus morphology	2314	FLII	ORPHA:819
HP:0001098	Abnormal fundus morphology	23096	IQSEC2	ORPHA:819
HP:0001098	Abnormal fundus morphology	10743	RAI1	ORPHA:819
HP:0001098	Abnormal fundus morphology	10743	RAI1	OMIM:182290
HP:0001098	Abnormal fundus morphology	10522	DEAF1	ORPHA:819
HP:0001098	Abnormal fundus morphology	2200	FBN1	OMIM:154700
HP:0001098	Abnormal fundus morphology	2200	FBN1	ORPHA:2833
HP:0001098	Abnormal fundus morphology	1298	COL9A2	OMIM:614284
HP:0001098	Abnormal fundus morphology	1298	COL9A2	ORPHA:250984
HP:0001098	Abnormal fundus morphology	113189	CHST14	ORPHA:2953
HP:0001098	Abnormal fundus morphology	113189	CHST14	OMIM:601776
HP:0001098	Abnormal fundus morphology	29940	DSE	ORPHA:2953
HP:0001098	Abnormal fundus morphology	91851	CHRDL1	OMIM:309300
HP:0001098	Abnormal fundus morphology	79087	ALG12	OMIM:607143
HP:0001098	Abnormal fundus morphology	79087	ALG12	ORPHA:79324
HP:0001098	Abnormal fundus morphology	92949	ADAMTSL1	ORPHA:521445
HP:0001098	Abnormal fundus morphology	54507	ADAMTSL4	OMIM:225200
HP:0001098	Abnormal fundus morphology	10526	IPO8	OMIM:619472
HP:0001098	Abnormal fundus morphology	4810	NHS	ORPHA:627
HP:0001098	Abnormal fundus morphology	7518	XRCC4	ORPHA:436182
HP:0001098	Abnormal fundus morphology	11107	PRDM5	ORPHA:90354
HP:0001098	Abnormal fundus morphology	84627	ZNF469	ORPHA:90354
HP:0001098	Abnormal fundus morphology	151188	ARL6IP6	ORPHA:1556
HP:0001098	Abnormal fundus morphology	1302	COL11A2	ORPHA:1427
HP:0001098	Abnormal fundus morphology	84695	LOXL3	OMIM:619781
HP:0001098	Abnormal fundus morphology	84695	LOXL3	ORPHA:250984
HP:0001098	Abnormal fundus morphology	1297	COL9A1	ORPHA:250984
HP:0001098	Abnormal fundus morphology	1299	COL9A3	ORPHA:250984
HP:0001098	Abnormal fundus morphology	4053	LTBP2	ORPHA:98976
HP:0001098	Abnormal fundus morphology	80036	TRPM3	OMIM:620253
HP:0001098	Abnormal fundus morphology	9488	PIGB	OMIM:618580
HP:0001098	Abnormal fundus morphology	2895	GRID2	OMIM:616204
HP:0001098	Abnormal fundus morphology	7167	TPI1	OMIM:615512
HP:0001098	Abnormal fundus morphology	83700	JAM3	OMIM:613730
HP:0001098	Abnormal fundus morphology	6809	STX3	OMIM:619446
HP:0001098	Abnormal fundus morphology	84816	RTN4IP1	OMIM:616732
HP:0001098	Abnormal fundus morphology	5010	CLDN11	OMIM:619328
HP:0001098	Abnormal fundus morphology	9179	AP4M1	OMIM:612936
HP:0001098	Abnormal fundus morphology	4718	NDUFC2	OMIM:619170
HP:0001098	Abnormal fundus morphology	84340	GFM2	ORPHA:565624
HP:0001098	Abnormal fundus morphology	64834	ELOVL1	OMIM:618527
HP:0001098	Abnormal fundus morphology	23327	NEDD4L	OMIM:617201
HP:0001098	Abnormal fundus morphology	8550	MAPKAPK5	OMIM:619869
HP:0001098	Abnormal fundus morphology	54664	TMEM106B	OMIM:617964
HP:0001098	Abnormal fundus morphology	149371	EXOC8	OMIM:619076
HP:0001098	Abnormal fundus morphology	1861	TOR1A	OMIM:618947
HP:0001098	Abnormal fundus morphology	90624	LYRM7	OMIM:615838
HP:0001098	Abnormal fundus morphology	55617	TASP1	OMIM:618950
HP:0001098	Abnormal fundus morphology	3187	HNRNPH1	OMIM:620083
HP:0001098	Abnormal fundus morphology	2055	CLN8	ORPHA:1947
HP:0001098	Abnormal fundus morphology	55181	SMG8	OMIM:619268
HP:0001098	Abnormal fundus morphology	55331	ACER3	OMIM:617762
HP:0001098	Abnormal fundus morphology	9181	ARHGEF2	OMIM:617523
HP:0001098	Abnormal fundus morphology	10681	GNB5	OMIM:617173
HP:0001098	Abnormal fundus morphology	10681	GNB5	ORPHA:542306
HP:0001098	Abnormal fundus morphology	54982	CLN6	OMIM:601780
HP:0001098	Abnormal fundus morphology	4081	MAB21L1	OMIM:618479
HP:0001098	Abnormal fundus morphology	1200	TPP1	OMIM:204500
HP:0001098	Abnormal fundus morphology	284086	NEK8	OMIM:613824
HP:0001098	Abnormal fundus morphology	4125	MAN2B1	OMIM:248500
HP:0001098	Abnormal fundus morphology	1203	CLN5	OMIM:256731
HP:0001098	Abnormal fundus morphology	1737	DLAT	ORPHA:79244
HP:0001098	Abnormal fundus morphology	10464	PIBF1	OMIM:617767
HP:0001098	Abnormal fundus morphology	80216	ALPK1	OMIM:614979
HP:0001098	Abnormal fundus morphology	27183	VPS4A	OMIM:619273
HP:0001098	Abnormal fundus morphology	55213	RCBTB1	OMIM:617175
HP:0001098	Abnormal fundus morphology	134218	DNAJC21	OMIM:617052
HP:0001098	Abnormal fundus morphology	4750	NEK1	OMIM:263520
HP:0001098	Abnormal fundus morphology	51524	TMEM138	OMIM:614465
HP:0001098	Abnormal fundus morphology	51524	TMEM138	ORPHA:2318
HP:0001098	Abnormal fundus morphology	286	ANK1	ORPHA:251066
HP:0001098	Abnormal fundus morphology	4036	LRP2	OMIM:222448
HP:0001098	Abnormal fundus morphology	4036	LRP2	ORPHA:2143
HP:0001098	Abnormal fundus morphology	219854	TMEM218	OMIM:619562
HP:0001098	Abnormal fundus morphology	92002	CCNQ	ORPHA:140952
HP:0001098	Abnormal fundus morphology	80210	ARMC9	OMIM:617622
HP:0001098	Abnormal fundus morphology	80055	PGAP1	OMIM:615802
HP:0001098	Abnormal fundus morphology	652	BMP4	ORPHA:139471
HP:0001098	Abnormal fundus morphology	652	BMP4	OMIM:607932
HP:0001098	Abnormal fundus morphology	5230	PGK1	OMIM:300653
HP:0001098	Abnormal fundus morphology	5230	PGK1	ORPHA:713
HP:0001098	Abnormal fundus morphology	23090	ZNF423	ORPHA:2318
HP:0001098	Abnormal fundus morphology	55764	IFT122	OMIM:218330
HP:0001098	Abnormal fundus morphology	57531	HACE1	ORPHA:464282
HP:0001098	Abnormal fundus morphology	57531	HACE1	OMIM:616756
HP:0001098	Abnormal fundus morphology	283987	HID1	OMIM:619983
HP:0001098	Abnormal fundus morphology	4921	DDR2	OMIM:618175
HP:0001098	Abnormal fundus morphology	9445	ITM2B	OMIM:616079
HP:0001098	Abnormal fundus morphology	1410	CRYAB	OMIM:613763
HP:0001098	Abnormal fundus morphology	6711	SPTBN1	OMIM:619475
HP:0001098	Abnormal fundus morphology	6469	SHH	OMIM:611638
HP:0001098	Abnormal fundus morphology	79759	ZNF668	OMIM:620194
HP:0001098	Abnormal fundus morphology	6299	SALL1	OMIM:107480
HP:0001098	Abnormal fundus morphology	6299	SALL1	ORPHA:857
HP:0001098	Abnormal fundus morphology	64412	GZF1	OMIM:617662
HP:0001098	Abnormal fundus morphology	3149	HMGB3	OMIM:300915
HP:0001098	Abnormal fundus morphology	51339	DACT1	ORPHA:857
HP:0001098	Abnormal fundus morphology	113246	C12orf57	OMIM:218340
HP:0001098	Abnormal fundus morphology	51322	WAC	ORPHA:284169
HP:0001098	Abnormal fundus morphology	57020	VPS35L	OMIM:619135
HP:0001098	Abnormal fundus morphology	6496	SIX3	OMIM:157170
HP:0001098	Abnormal fundus morphology	50945	TBX22	ORPHA:921
HP:0001098	Abnormal fundus morphology	2639	GCDH	ORPHA:25
HP:0001098	Abnormal fundus morphology	5551	PRF1	ORPHA:88
HP:0001098	Abnormal fundus morphology	7012	TERC	ORPHA:88
HP:0001098	Abnormal fundus morphology	51119	SBDS	ORPHA:88
HP:0001098	Abnormal fundus morphology	4615	MYD88	ORPHA:33226
HP:0001098	Abnormal fundus morphology	1785	DNM2	OMIM:615368
HP:0001098	Abnormal fundus morphology	667	DST	OMIM:614653
HP:0001098	Abnormal fundus morphology	54892	NCAPG2	OMIM:618460
HP:0001098	Abnormal fundus morphology	246243	RNASEH1	ORPHA:329336
HP:0001098	Abnormal fundus morphology	1351	COX8A	OMIM:619059
HP:0001098	Abnormal fundus morphology	55154	MSTO1	OMIM:617675
HP:0001098	Abnormal fundus morphology	55154	MSTO1	ORPHA:502423
HP:0001098	Abnormal fundus morphology	80201	HKDC1	OMIM:619614
HP:0001098	Abnormal fundus morphology	80324	PUS1	OMIM:600462
HP:0001098	Abnormal fundus morphology	857	CAV1	OMIM:606721
HP:0001098	Abnormal fundus morphology	4591	TRIM37	OMIM:253250
HP:0001098	Abnormal fundus morphology	51057	WDPCP	ORPHA:110
HP:0001098	Abnormal fundus morphology	84984	CEP19	ORPHA:110
HP:0001098	Abnormal fundus morphology	81689	ISCA1	OMIM:617613
HP:0001098	Abnormal fundus morphology	3032	HADHB	ORPHA:746
HP:0001098	Abnormal fundus morphology	200894	ARL13B	OMIM:612291
HP:0001098	Abnormal fundus morphology	182	JAG1	OMIM:118450
HP:0001098	Abnormal fundus morphology	3033	HADH	ORPHA:71212
HP:0001098	Abnormal fundus morphology	2937	GSS	OMIM:266130
HP:0001098	Abnormal fundus morphology	326	AIRE	OMIM:240300
HP:0001098	Abnormal fundus morphology	6390	SDHB	ORPHA:3208
HP:0001098	Abnormal fundus morphology	6392	SDHD	ORPHA:3208
HP:0001098	Abnormal fundus morphology	644096	SDHAF1	ORPHA:3208
HP:0001098	Abnormal fundus morphology	5052	PRDX1	OMIM:277400
HP:0001098	Abnormal fundus morphology	2624	GATA2	ORPHA:3226
HP:0001098	Abnormal fundus morphology	9131	AIFM1	ORPHA:83629
HP:0001098	Abnormal fundus morphology	2187	FANCB	ORPHA:3412
HP:0001098	Abnormal fundus morphology	3476	IGBP1	OMIM:300472
HP:0001098	Abnormal fundus morphology	3476	IGBP1	ORPHA:52055
HP:0001098	Abnormal fundus morphology	4072	EPCAM	ORPHA:92050
HP:0001098	Abnormal fundus morphology	105371045	PERCC1	ORPHA:92050
HP:0001098	Abnormal fundus morphology	8260	NAA10	OMIM:309800
HP:0001098	Abnormal fundus morphology	8260	NAA10	ORPHA:568
HP:0001098	Abnormal fundus morphology	54880	BCOR	OMIM:309800
HP:0001098	Abnormal fundus morphology	54880	BCOR	ORPHA:568
HP:0001098	Abnormal fundus morphology	54496	PRMT7	OMIM:617157
HP:0001098	Abnormal fundus morphology	1663	DDX11	OMIM:613398
HP:0001098	Abnormal fundus morphology	55733	HHAT	OMIM:600092
HP:0001098	Abnormal fundus morphology	8085	KMT2D	OMIM:620186
HP:0001098	Abnormal fundus morphology	10653	SPINT2	OMIM:270420
HP:0001098	Abnormal fundus morphology	8295	TRRAP	OMIM:618454
HP:0001098	Abnormal fundus morphology	6608	SMO	ORPHA:1553
HP:0001098	Abnormal fundus morphology	83479	DDX59	OMIM:174300
HP:0001098	Abnormal fundus morphology	735	C9	OMIM:615591
HP:0001098	Abnormal fundus morphology	5654	HTRA1	OMIM:610149
HP:0001098	Abnormal fundus morphology	1471	CST3	OMIM:611953
HP:0001098	Abnormal fundus morphology	80208	SPG11	OMIM:604360
HP:0001098	Abnormal fundus morphology	427	ASAH1	ORPHA:333
HP:0001098	Abnormal fundus morphology	55129	ANO10	ORPHA:284289
HP:0001098	Abnormal fundus morphology	84131	CEP78	OMIM:617236
HP:0001098	Abnormal fundus morphology	404672	GTF2H5	ORPHA:33364
HP:0001098	Abnormal fundus morphology	833	CARS1	ORPHA:33364
HP:0001098	Abnormal fundus morphology	6897	TARS1	ORPHA:33364
HP:0001098	Abnormal fundus morphology	2961	GTF2E2	ORPHA:33364
HP:0001098	Abnormal fundus morphology	3980	LIG3	OMIM:619780
HP:0001098	Abnormal fundus morphology	5062	PAK2	ORPHA:1571
HP:0001098	Abnormal fundus morphology	8820	HESX1	OMIM:182230
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:3157
HP:0001098	Abnormal fundus morphology	50801	KCNK4	OMIM:618381
HP:0001098	Abnormal fundus morphology	22827	PUF60	ORPHA:508498
HP:0001098	Abnormal fundus morphology	22827	PUF60	ORPHA:508488
HP:0001098	Abnormal fundus morphology	22827	PUF60	OMIM:615583
HP:0001098	Abnormal fundus morphology	10735	STAG2	OMIM:301043
HP:0001098	Abnormal fundus morphology	23259	DDHD2	OMIM:615033
HP:0001098	Abnormal fundus morphology	7737	RNF113A	OMIM:300953
HP:0001098	Abnormal fundus morphology	5626	PROP1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5626	PROP1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	89884	LHX4	ORPHA:226307
HP:0001098	Abnormal fundus morphology	89884	LHX4	ORPHA:95494
HP:0001098	Abnormal fundus morphology	8022	LHX3	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5449	POU1F1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5449	POU1F1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	775	CACNA1C	OMIM:620029
HP:0001098	Abnormal fundus morphology	84282	RNF135	ORPHA:137634
HP:0001098	Abnormal fundus morphology	1788	DNMT3A	OMIM:615879
HP:0001098	Abnormal fundus morphology	51807	TUBA8	ORPHA:250972
HP:0001098	Abnormal fundus morphology	54820	NDE1	ORPHA:2177
HP:0001098	Abnormal fundus morphology	8854	ALDH1A2	OMIM:620025
HP:0001098	Abnormal fundus morphology	8405	SPOP	OMIM:618828
HP:0001098	Abnormal fundus morphology	415	ARSL	ORPHA:79345
HP:0001098	Abnormal fundus morphology	256297	PTF1A	OMIM:609069
HP:0001098	Abnormal fundus morphology	256297	PTF1A	ORPHA:65288
HP:0001098	Abnormal fundus morphology	55593	OTUD5	OMIM:301056
HP:0001098	Abnormal fundus morphology	3190	HNRNPK	ORPHA:453504
HP:0001098	Abnormal fundus morphology	3190	HNRNPK	ORPHA:352665
HP:0001098	Abnormal fundus morphology	2736	GLI2	OMIM:610829
HP:0001098	Abnormal fundus morphology	2736	GLI2	ORPHA:95494
HP:0001098	Abnormal fundus morphology	57459	GATAD2B	ORPHA:363686
HP:0001098	Abnormal fundus morphology	3170	FOXA2	ORPHA:95494
HP:0001098	Abnormal fundus morphology	8443	GNPAT	OMIM:222765
HP:0001098	Abnormal fundus morphology	2222	FDFT1	OMIM:618156
HP:0001098	Abnormal fundus morphology	29123	ANKRD11	ORPHA:261250
HP:0001098	Abnormal fundus morphology	55215	FANCI	OMIM:609053
HP:0001098	Abnormal fundus morphology	2893	GRIA4	OMIM:617864
HP:0001098	Abnormal fundus morphology	5500	PPP1CB	OMIM:617506
HP:0001098	Abnormal fundus morphology	29072	SETD2	OMIM:620157
HP:0001098	Abnormal fundus morphology	29072	SETD2	OMIM:620155
HP:0001098	Abnormal fundus morphology	57688	ZSWIM6	OMIM:603671
HP:0001098	Abnormal fundus morphology	23499	MACF1	ORPHA:572013
HP:0001098	Abnormal fundus morphology	387119	CEP85L	ORPHA:572013
HP:0001098	Abnormal fundus morphology	7846	TUBA1A	ORPHA:171680
HP:0001098	Abnormal fundus morphology	4208	MEF2C	ORPHA:228384
HP:0001098	Abnormal fundus morphology	51360	MBTPS2	ORPHA:85284
HP:0001098	Abnormal fundus morphology	9968	MED12	ORPHA:93932
HP:0001098	Abnormal fundus morphology	10381	TUBB3	ORPHA:300570
HP:0001098	Abnormal fundus morphology	9928	KIF14	OMIM:617914
HP:0001098	Abnormal fundus morphology	25930	PTPN23	OMIM:618890
HP:0001098	Abnormal fundus morphology	132158	GLYCTK	OMIM:220120
HP:0001098	Abnormal fundus morphology	7545	ZIC1	OMIM:618736
HP:0001098	Abnormal fundus morphology	5518	PPP2R1A	ORPHA:457284
HP:0001098	Abnormal fundus morphology	4747	NEFL	ORPHA:101085
HP:0001098	Abnormal fundus morphology	2260	FGFR1	ORPHA:3157
HP:0001098	Abnormal fundus morphology	128674	PROKR2	ORPHA:3157
HP:0001098	Abnormal fundus morphology	6658	SOX3	ORPHA:3157
HP:0001098	Abnormal fundus morphology	9915	ARNT2	ORPHA:3157
HP:0001098	Abnormal fundus morphology	64127	NOD2	ORPHA:90340
HP:0001098	Abnormal fundus morphology	4763	NF1	ORPHA:97685
HP:0001098	Abnormal fundus morphology	1188	CLCNKB	OMIM:607364
HP:0001098	Abnormal fundus morphology	5167	ENPP1	ORPHA:51608
HP:0001098	Abnormal fundus morphology	368	ABCC6	ORPHA:51608
HP:0001098	Abnormal fundus morphology	26191	PTPN22	ORPHA:397
HP:0001098	Abnormal fundus morphology	3106	HLA-B	ORPHA:397
HP:0001098	Abnormal fundus morphology	3123	HLA-DRB1	ORPHA:397
HP:0001098	Abnormal fundus morphology	8974	P4HA2	ORPHA:397
HP:0001098	Abnormal fundus morphology	2218	FKTN	ORPHA:272
HP:0001098	Abnormal fundus morphology	2218	FKTN	ORPHA:588
HP:0001098	Abnormal fundus morphology	2218	FKTN	OMIM:236670
HP:0001098	Abnormal fundus morphology	2218	FKTN	ORPHA:899
HP:0001098	Abnormal fundus morphology	2218	FKTN	OMIM:253800
HP:0001098	Abnormal fundus morphology	4524	MTHFR	ORPHA:395
HP:0001098	Abnormal fundus morphology	55703	POLR3B	OMIM:614381
HP:0001098	Abnormal fundus morphology	55703	POLR3B	OMIM:607694
HP:0001098	Abnormal fundus morphology	10617	STAMBP	OMIM:614261
HP:0001098	Abnormal fundus morphology	4099	MAG	OMIM:616680
HP:0001098	Abnormal fundus morphology	51256	TBC1D7	OMIM:248000
HP:0001098	Abnormal fundus morphology	55823	VPS11	OMIM:616683
HP:0001098	Abnormal fundus morphology	55823	VPS11	ORPHA:466934
HP:0001098	Abnormal fundus morphology	23446	SLC44A1	OMIM:618868
HP:0001098	Abnormal fundus morphology	8518	ELP1	ORPHA:1764
HP:0001098	Abnormal fundus morphology	201595	STT3B	OMIM:615597
HP:0001098	Abnormal fundus morphology	201595	STT3B	ORPHA:370924
HP:0001098	Abnormal fundus morphology	10059	DNM1L	OMIM:614388
HP:0001098	Abnormal fundus morphology	10059	DNM1L	OMIM:610708
HP:0001098	Abnormal fundus morphology	10059	DNM1L	ORPHA:330050
HP:0001098	Abnormal fundus morphology	10059	DNM1L	ORPHA:98673
HP:0001098	Abnormal fundus morphology	4897	NRCAM	OMIM:619833
HP:0001098	Abnormal fundus morphology	2720	GLB1	OMIM:230600
HP:0001098	Abnormal fundus morphology	84334	COA8	ORPHA:436271
HP:0001098	Abnormal fundus morphology	1786	DNMT1	ORPHA:314404
HP:0001098	Abnormal fundus morphology	1786	DNMT1	OMIM:604121
HP:0001098	Abnormal fundus morphology	84942	WDR73	OMIM:251300
HP:0001098	Abnormal fundus morphology	84942	WDR73	ORPHA:83472
HP:0001098	Abnormal fundus morphology	1736	DKC1	OMIM:305000
HP:0001098	Abnormal fundus morphology	1161	ERCC8	ORPHA:90321
HP:0001098	Abnormal fundus morphology	1161	ERCC8	OMIM:216400
HP:0001098	Abnormal fundus morphology	6687	SPG7	ORPHA:99013
HP:0001098	Abnormal fundus morphology	6687	SPG7	OMIM:607259
HP:0001098	Abnormal fundus morphology	5354	PLP1	ORPHA:99015
HP:0001098	Abnormal fundus morphology	5354	PLP1	ORPHA:280234
HP:0001098	Abnormal fundus morphology	5354	PLP1	OMIM:312080
HP:0001098	Abnormal fundus morphology	5354	PLP1	OMIM:312920
HP:0001098	Abnormal fundus morphology	57165	GJC2	OMIM:608804
HP:0001098	Abnormal fundus morphology	8566	PDXK	OMIM:618511
HP:0001098	Abnormal fundus morphology	65993	MRPS34	OMIM:617664
HP:0001098	Abnormal fundus morphology	6536	SLC6A9	OMIM:617301
HP:0001098	Abnormal fundus morphology	51741	WWOX	OMIM:616211
HP:0001098	Abnormal fundus morphology	51741	WWOX	ORPHA:442835
HP:0001098	Abnormal fundus morphology	51741	WWOX	OMIM:614322
HP:0001098	Abnormal fundus morphology	200205	IBA57	OMIM:616451
HP:0001098	Abnormal fundus morphology	200205	IBA57	ORPHA:468661
HP:0001098	Abnormal fundus morphology	200205	IBA57	OMIM:615330
HP:0001098	Abnormal fundus morphology	79639	TMEM53	OMIM:619727
HP:0001098	Abnormal fundus morphology	10730	YME1L1	OMIM:617302
HP:0001098	Abnormal fundus morphology	55768	NGLY1	ORPHA:404454
HP:0001098	Abnormal fundus morphology	55636	CHD7	ORPHA:138
HP:0001098	Abnormal fundus morphology	9723	SEMA3E	ORPHA:138
HP:0001098	Abnormal fundus morphology	50964	SOST	ORPHA:1513
HP:0001098	Abnormal fundus morphology	50964	SOST	OMIM:122860
HP:0001098	Abnormal fundus morphology	50964	SOST	ORPHA:3152
HP:0001098	Abnormal fundus morphology	50964	SOST	OMIM:269500
HP:0001098	Abnormal fundus morphology	6660	SOX5	ORPHA:313892
HP:0001098	Abnormal fundus morphology	6660	SOX5	OMIM:616803
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309271
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309263
HP:0001098	Abnormal fundus morphology	410	ARSA	OMIM:250100
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309256
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309271
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309263
HP:0001098	Abnormal fundus morphology	5660	PSAP	OMIM:611721
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309256
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:206436
HP:0001098	Abnormal fundus morphology	7345	UCHL1	OMIM:615491
HP:0001098	Abnormal fundus morphology	7345	UCHL1	OMIM:620221
HP:0001098	Abnormal fundus morphology	284058	KANSL1	ORPHA:363958
HP:0001098	Abnormal fundus morphology	284058	KANSL1	ORPHA:363965
HP:0001098	Abnormal fundus morphology	5105	PCK1	OMIM:261680
HP:0001098	Abnormal fundus morphology	7994	KAT6A	ORPHA:457193
HP:0001098	Abnormal fundus morphology	7994	KAT6A	OMIM:616268
HP:0001098	Abnormal fundus morphology	9326	ZNHIT3	ORPHA:2836
HP:0001098	Abnormal fundus morphology	9326	ZNHIT3	OMIM:260565
HP:0001098	Abnormal fundus morphology	547	KIF1A	ORPHA:2836
HP:0001098	Abnormal fundus morphology	547	KIF1A	OMIM:614255
HP:0001098	Abnormal fundus morphology	55681	SCYL2	OMIM:618766
HP:0001098	Abnormal fundus morphology	85465	SELENOI	OMIM:618768
HP:0001098	Abnormal fundus morphology	2697	GJA1	ORPHA:2710
HP:0001098	Abnormal fundus morphology	2697	GJA1	OMIM:218400
HP:0001098	Abnormal fundus morphology	9401	RECQL4	OMIM:218600
HP:0001098	Abnormal fundus morphology	55149	MTPAP	ORPHA:254343
HP:0001098	Abnormal fundus morphology	55149	MTPAP	OMIM:613672
HP:0001098	Abnormal fundus morphology	171023	ASXL1	ORPHA:97297
HP:0001098	Abnormal fundus morphology	10484	SEC23A	OMIM:607812
HP:0001098	Abnormal fundus morphology	10815	CPLX1	ORPHA:280
HP:0001098	Abnormal fundus morphology	54872	PIGG	ORPHA:280
HP:0001098	Abnormal fundus morphology	7469	NELFA	ORPHA:280
HP:0001098	Abnormal fundus morphology	1487	CTBP1	ORPHA:280
HP:0001098	Abnormal fundus morphology	3954	LETM1	ORPHA:280
HP:0001098	Abnormal fundus morphology	3954	LETM1	OMIM:620089
HP:0001098	Abnormal fundus morphology	7468	NSD2	ORPHA:280
HP:0001098	Abnormal fundus morphology	22872	SEC31A	OMIM:618651
HP:0001098	Abnormal fundus morphology	83636	C19orf12	OMIM:614298
HP:0001098	Abnormal fundus morphology	83636	C19orf12	OMIM:615043
HP:0001098	Abnormal fundus morphology	5833	PCYT2	OMIM:618770
HP:0001098	Abnormal fundus morphology	7466	WFS1	OMIM:614296
HP:0001098	Abnormal fundus morphology	7466	WFS1	OMIM:222300
HP:0001098	Abnormal fundus morphology	7466	WFS1	ORPHA:3463
HP:0001098	Abnormal fundus morphology	7466	WFS1	ORPHA:411590
HP:0001098	Abnormal fundus morphology	388962	BOLA3	OMIM:614299
HP:0001098	Abnormal fundus morphology	284184	NDUFAF8	OMIM:618776
HP:0001098	Abnormal fundus morphology	79731	NARS2	OMIM:616239
HP:0001098	Abnormal fundus morphology	89910	UBE3B	ORPHA:2707
HP:0001098	Abnormal fundus morphology	3737	KCNA2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1759	DNM1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1759	DNM1	OMIM:620352
HP:0001098	Abnormal fundus morphology	523	ATP6V1A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	523	ATP6V1A	OMIM:618012
HP:0001098	Abnormal fundus morphology	10991	SLC38A3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	51343	FZR1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	22906	TRAK1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2566	GABRG2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1917	EEF1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2561	GABRB2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	8831	SYNGAP1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	7532	YWHAG	ORPHA:442835
HP:0001098	Abnormal fundus morphology	79876	UBA5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6328	SCN3A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2558	GABRA5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	781	CACNA2D1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2906	GRIN2D	ORPHA:442835
HP:0001098	Abnormal fundus morphology	10659	CELF2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	774	CACNA1B	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1213	CLTC	ORPHA:442835
HP:0001098	Abnormal fundus morphology	23334	SZT2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	51412	ACTL6B	ORPHA:442835
HP:0001098	Abnormal fundus morphology	348980	HCN1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6506	SLC1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	8867	SYNJ1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2258	FGF13	ORPHA:442835
HP:0001098	Abnormal fundus morphology	477	ATP1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	3745	KCNB1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	284111	SLC13A5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	25977	NECAP1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	16	AARS1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6334	SCN8A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	22866	CNKSR2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	9568	GABBR2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2555	GABRA2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	55152	DALRD3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	773	CACNA1A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	26999	CYFIP2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	4915	NTRK2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	4915	NTRK2	OMIM:617830
HP:0001098	Abnormal fundus morphology	25973	PARS2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	25973	PARS2	OMIM:618437
HP:0001098	Abnormal fundus morphology	23097	CDK19	ORPHA:442835
HP:0001098	Abnormal fundus morphology	5530	PPP3CA	ORPHA:442835
HP:0001098	Abnormal fundus morphology	478	ATP1A3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	478	ATP1A3	OMIM:601338
HP:0001098	Abnormal fundus morphology	478	ATP1A3	ORPHA:1171
HP:0001098	Abnormal fundus morphology	6905	TBCE	OMIM:617207
HP:0001098	Abnormal fundus morphology	6905	TBCE	ORPHA:496756
HP:0001098	Abnormal fundus morphology	9927	MFN2	OMIM:601152
HP:0001098	Abnormal fundus morphology	9927	MFN2	OMIM:609260
HP:0001098	Abnormal fundus morphology	9927	MFN2	OMIM:617087
HP:0001098	Abnormal fundus morphology	9927	MFN2	ORPHA:99947
HP:0001098	Abnormal fundus morphology	673	BRAF	ORPHA:54595
HP:0001098	Abnormal fundus morphology	673	BRAF	ORPHA:1340
HP:0001098	Abnormal fundus morphology	8241	RBM10	OMIM:311900
HP:0001098	Abnormal fundus morphology	8241	RBM10	ORPHA:2886
HP:0001098	Abnormal fundus morphology	1182	CLCN3	OMIM:619512
HP:0001098	Abnormal fundus morphology	91574	MTRFR	OMIM:615035
HP:0001098	Abnormal fundus morphology	91574	MTRFR	ORPHA:320375
HP:0001098	Abnormal fundus morphology	91574	MTRFR	ORPHA:254930
HP:0001098	Abnormal fundus morphology	91574	MTRFR	OMIM:613559
HP:0001098	Abnormal fundus morphology	27125	AFF4	OMIM:616368
HP:0001098	Abnormal fundus morphology	92609	TIMM50	OMIM:617698
HP:0001098	Abnormal fundus morphology	92609	TIMM50	ORPHA:505216
HP:0001098	Abnormal fundus morphology	51692	CPSF3	OMIM:619876
HP:0001098	Abnormal fundus morphology	150468	CKAP2L	OMIM:272440
HP:0001098	Abnormal fundus morphology	150468	CKAP2L	ORPHA:3255
HP:0001098	Abnormal fundus morphology	5590	PRKCZ	ORPHA:1606
HP:0001098	Abnormal fundus morphology	2563	GABRD	ORPHA:1606
HP:0001098	Abnormal fundus morphology	23013	SPEN	ORPHA:1606
HP:0001098	Abnormal fundus morphology	8510	MMP23B	ORPHA:1606
HP:0001098	Abnormal fundus morphology	7798	LUZP1	ORPHA:1606
HP:0001098	Abnormal fundus morphology	6497	SKI	ORPHA:1606
HP:0001098	Abnormal fundus morphology	10630	PDPN	ORPHA:1606
HP:0001098	Abnormal fundus morphology	3339	HSPG2	ORPHA:1606
HP:0001098	Abnormal fundus morphology	10277	UBE4B	ORPHA:1606
HP:0001098	Abnormal fundus morphology	8514	KCNAB2	ORPHA:1606
HP:0001098	Abnormal fundus morphology	473	RERE	ORPHA:1606
HP:0001098	Abnormal fundus morphology	473	RERE	ORPHA:494344
HP:0001098	Abnormal fundus morphology	473	RERE	OMIM:616975
HP:0001098	Abnormal fundus morphology	63976	PRDM16	ORPHA:1606
HP:0001098	Abnormal fundus morphology	54897	CASZ1	ORPHA:1606
HP:0001098	Abnormal fundus morphology	4720	NDUFS2	ORPHA:104
HP:0001098	Abnormal fundus morphology	4720	NDUFS2	OMIM:618228
HP:0001098	Abnormal fundus morphology	4720	NDUFS2	ORPHA:70474
HP:0001098	Abnormal fundus morphology	4720	NDUFS2	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4512	MT-CO1	ORPHA:104
HP:0001098	Abnormal fundus morphology	4512	MT-CO1	ORPHA:550
HP:0001098	Abnormal fundus morphology	4514	MT-CO3	ORPHA:104
HP:0001098	Abnormal fundus morphology	4514	MT-CO3	OMIM:535000
HP:0001098	Abnormal fundus morphology	4514	MT-CO3	ORPHA:550
HP:0001098	Abnormal fundus morphology	4519	MT-CYB	ORPHA:104
HP:0001098	Abnormal fundus morphology	4519	MT-CYB	OMIM:535000
HP:0001098	Abnormal fundus morphology	4519	MT-CYB	ORPHA:137675
HP:0001098	Abnormal fundus morphology	4539	MT-ND4L	ORPHA:104
HP:0001098	Abnormal fundus morphology	4539	MT-ND4L	OMIM:535000
HP:0001098	Abnormal fundus morphology	148789	B3GALNT2	ORPHA:588
HP:0001098	Abnormal fundus morphology	148789	B3GALNT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	29925	GMPPB	ORPHA:588
HP:0001098	Abnormal fundus morphology	29925	GMPPB	ORPHA:370959
HP:0001098	Abnormal fundus morphology	79147	FKRP	ORPHA:588
HP:0001098	Abnormal fundus morphology	79147	FKRP	OMIM:236670
HP:0001098	Abnormal fundus morphology	79147	FKRP	ORPHA:899
HP:0001098	Abnormal fundus morphology	79147	FKRP	ORPHA:370959
HP:0001098	Abnormal fundus morphology	9215	LARGE1	ORPHA:588
HP:0001098	Abnormal fundus morphology	9215	LARGE1	OMIM:236670
HP:0001098	Abnormal fundus morphology	9215	LARGE1	ORPHA:899
HP:0001098	Abnormal fundus morphology	9215	LARGE1	OMIM:613154
HP:0001098	Abnormal fundus morphology	29954	POMT2	ORPHA:588
HP:0001098	Abnormal fundus morphology	29954	POMT2	OMIM:236670
HP:0001098	Abnormal fundus morphology	29954	POMT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	29954	POMT2	ORPHA:370959
HP:0001098	Abnormal fundus morphology	10585	POMT1	ORPHA:588
HP:0001098	Abnormal fundus morphology	10585	POMT1	OMIM:236670
HP:0001098	Abnormal fundus morphology	10585	POMT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	10585	POMT1	ORPHA:370959
HP:0001098	Abnormal fundus morphology	55210	ATAD3A	ORPHA:496790
HP:0001098	Abnormal fundus morphology	55210	ATAD3A	OMIM:617183
HP:0001098	Abnormal fundus morphology	4644	MYO5A	ORPHA:33445
HP:0001098	Abnormal fundus morphology	8818	DPM2	OMIM:615042
HP:0001098	Abnormal fundus morphology	8818	DPM2	ORPHA:329178
HP:0001098	Abnormal fundus morphology	122961	ISCA2	OMIM:616370
HP:0001098	Abnormal fundus morphology	8733	GPAA1	ORPHA:529665
HP:0001098	Abnormal fundus morphology	8733	GPAA1	OMIM:617810
HP:0001098	Abnormal fundus morphology	4849	CNOT3	OMIM:618672
HP:0001098	Abnormal fundus morphology	56947	MFF	ORPHA:485421
HP:0001098	Abnormal fundus morphology	56947	MFF	OMIM:617086
HP:0001098	Abnormal fundus morphology	2263	FGFR2	OMIM:123790
HP:0001098	Abnormal fundus morphology	2263	FGFR2	ORPHA:794
HP:0001098	Abnormal fundus morphology	2263	FGFR2	OMIM:123500
HP:0001098	Abnormal fundus morphology	2263	FGFR2	ORPHA:207
HP:0001098	Abnormal fundus morphology	2263	FGFR2	ORPHA:87
HP:0001098	Abnormal fundus morphology	2263	FGFR2	ORPHA:1555
HP:0001098	Abnormal fundus morphology	9562	MINPP1	OMIM:619527
HP:0001098	Abnormal fundus morphology	9562	MINPP1	ORPHA:284339
HP:0001098	Abnormal fundus morphology	256471	MFSD8	OMIM:610951
HP:0001098	Abnormal fundus morphology	7841	MOGS	ORPHA:79330
HP:0001098	Abnormal fundus morphology	7841	MOGS	OMIM:606056
HP:0001098	Abnormal fundus morphology	56652	TWNK	OMIM:271245
HP:0001098	Abnormal fundus morphology	56652	TWNK	ORPHA:1186
HP:0001098	Abnormal fundus morphology	2271	FH	OMIM:606812
HP:0001098	Abnormal fundus morphology	5981	RFC1	ORPHA:504476
HP:0001098	Abnormal fundus morphology	197258	FCSK	OMIM:618324
HP:0001098	Abnormal fundus morphology	2395	FXN	OMIM:229300
HP:0001098	Abnormal fundus morphology	2395	FXN	ORPHA:95
HP:0001098	Abnormal fundus morphology	10463	SLC30A9	OMIM:617595
HP:0001098	Abnormal fundus morphology	125988	MICOS13	OMIM:618329
HP:0001098	Abnormal fundus morphology	84168	ANTXR1	OMIM:230740
HP:0001098	Abnormal fundus morphology	84168	ANTXR1	ORPHA:2067
HP:0001098	Abnormal fundus morphology	25836	NIPBL	OMIM:122470
HP:0001098	Abnormal fundus morphology	9725	TMEM63A	OMIM:618688
HP:0001098	Abnormal fundus morphology	8813	DPM1	ORPHA:79322
HP:0001098	Abnormal fundus morphology	8813	DPM1	OMIM:608799
HP:0001098	Abnormal fundus morphology	9526	MPDU1	ORPHA:79323
HP:0001098	Abnormal fundus morphology	9526	MPDU1	OMIM:609180
HP:0001098	Abnormal fundus morphology	79053	ALG8	ORPHA:79325
HP:0001098	Abnormal fundus morphology	1967	EIF2B1	OMIM:603896
HP:0001098	Abnormal fundus morphology	10195	ALG3	OMIM:601110
HP:0001098	Abnormal fundus morphology	10533	ATG7	OMIM:619422
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	OMIM:619303
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	ORPHA:2254
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	OMIM:616505
HP:0001098	Abnormal fundus morphology	58497	PRUNE1	OMIM:617481
HP:0001098	Abnormal fundus morphology	58497	PRUNE1	ORPHA:544469
HP:0001098	Abnormal fundus morphology	55656	INTS8	OMIM:618572
HP:0001098	Abnormal fundus morphology	11232	POLG2	OMIM:619425
HP:0001098	Abnormal fundus morphology	8905	AP1S2	OMIM:304340
HP:0001098	Abnormal fundus morphology	4594	MMUT	ORPHA:79312
HP:0001098	Abnormal fundus morphology	4594	MMUT	ORPHA:289916
HP:0001098	Abnormal fundus morphology	7291	TWIST1	ORPHA:794
HP:0001098	Abnormal fundus morphology	2261	FGFR3	ORPHA:794
HP:0001098	Abnormal fundus morphology	2261	FGFR3	ORPHA:93262
HP:0001098	Abnormal fundus morphology	4558	MT-TF	ORPHA:551
HP:0001098	Abnormal fundus morphology	4558	MT-TF	ORPHA:550
HP:0001098	Abnormal fundus morphology	4549	MT-RNR1	ORPHA:551
HP:0001098	Abnormal fundus morphology	4574	MT-TS1	ORPHA:551
HP:0001098	Abnormal fundus morphology	4574	MT-TS1	ORPHA:550
HP:0001098	Abnormal fundus morphology	4574	MT-TS1	OMIM:220110
HP:0001098	Abnormal fundus morphology	4575	MT-TS2	ORPHA:551
HP:0001098	Abnormal fundus morphology	4575	MT-TS2	ORPHA:550
HP:0001098	Abnormal fundus morphology	4571	MT-TP	ORPHA:551
HP:0001098	Abnormal fundus morphology	4572	MT-TQ	ORPHA:551
HP:0001098	Abnormal fundus morphology	4572	MT-TQ	ORPHA:550
HP:0001098	Abnormal fundus morphology	4564	MT-TH	ORPHA:551
HP:0001098	Abnormal fundus morphology	4564	MT-TH	ORPHA:550
HP:0001098	Abnormal fundus morphology	3912	LAMB1	OMIM:615191
HP:0001098	Abnormal fundus morphology	3912	LAMB1	ORPHA:352682
HP:0001098	Abnormal fundus morphology	4513	MT-CO2	ORPHA:550
HP:0001098	Abnormal fundus morphology	10785	WDR4	OMIM:618346
HP:0001098	Abnormal fundus morphology	50	ACO2	OMIM:616289
HP:0001098	Abnormal fundus morphology	50	ACO2	OMIM:614559
HP:0001098	Abnormal fundus morphology	160418	TMTC3	OMIM:617255
HP:0001098	Abnormal fundus morphology	51728	POLR3K	OMIM:619310
HP:0001098	Abnormal fundus morphology	4719	NDUFS1	OMIM:618226
HP:0001098	Abnormal fundus morphology	4719	NDUFS1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4729	NDUFV2	OMIM:618229
HP:0001098	Abnormal fundus morphology	4729	NDUFV2	ORPHA:255241
HP:0001098	Abnormal fundus morphology	2767	GNA11	ORPHA:428
HP:0001098	Abnormal fundus morphology	846	CASR	ORPHA:428
HP:0001098	Abnormal fundus morphology	23345	SYNE1	OMIM:610743
HP:0001098	Abnormal fundus morphology	5428	POLG	OMIM:258450
HP:0001098	Abnormal fundus morphology	5428	POLG	ORPHA:254886
HP:0001098	Abnormal fundus morphology	10102	TSFM	OMIM:610505
HP:0001098	Abnormal fundus morphology	128869	PIGU	OMIM:618590
HP:0001098	Abnormal fundus morphology	29887	SNX10	OMIM:615085
HP:0001098	Abnormal fundus morphology	91942	NDUFAF2	OMIM:618233
HP:0001098	Abnormal fundus morphology	91942	NDUFAF2	ORPHA:255241
HP:0001098	Abnormal fundus morphology	7084	TK2	ORPHA:254886
HP:0001098	Abnormal fundus morphology	81790	RNF170	OMIM:619686
HP:0001098	Abnormal fundus morphology	23102	TBC1D2B	OMIM:619323
HP:0001098	Abnormal fundus morphology	1436	CSF1R	OMIM:618476
HP:0001098	Abnormal fundus morphology	26610	ELP4	OMIM:617141
HP:0001098	Abnormal fundus morphology	79868	ALG13	OMIM:300884
HP:0001098	Abnormal fundus morphology	126328	NDUFA11	OMIM:618236
HP:0001098	Abnormal fundus morphology	6651	SON	OMIM:617140
HP:0001098	Abnormal fundus morphology	6651	SON	ORPHA:500150
HP:0001098	Abnormal fundus morphology	10978	CLP1	ORPHA:411493
HP:0001098	Abnormal fundus morphology	9342	SNAP29	ORPHA:66631
HP:0001098	Abnormal fundus morphology	8882	ZPR1	OMIM:619321
HP:0001098	Abnormal fundus morphology	29078	NDUFAF4	OMIM:618237
HP:0001098	Abnormal fundus morphology	79133	NDUFAF5	OMIM:618238
HP:0001098	Abnormal fundus morphology	79133	NDUFAF5	ORPHA:255241
HP:0001098	Abnormal fundus morphology	7248	TSC1	ORPHA:538
HP:0001098	Abnormal fundus morphology	7249	TSC2	ORPHA:538
HP:0001098	Abnormal fundus morphology	11152	WDR45	ORPHA:329284
HP:0001098	Abnormal fundus morphology	154881	KCTD7	OMIM:611726
HP:0001098	Abnormal fundus morphology	154881	KCTD7	ORPHA:263516
HP:0001098	Abnormal fundus morphology	84892	POMGNT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	1282	COL4A1	ORPHA:899
HP:0001098	Abnormal fundus morphology	729920	CRPPA	ORPHA:899
HP:0001098	Abnormal fundus morphology	10329	RXYLT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	1605	DAG1	ORPHA:899
HP:0001098	Abnormal fundus morphology	11041	B4GAT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	84197	POMK	ORPHA:899
HP:0001098	Abnormal fundus morphology	84197	POMK	ORPHA:370959
HP:0001098	Abnormal fundus morphology	79944	L2HGDH	OMIM:236792
HP:0001098	Abnormal fundus morphology	8869	ST3GAL5	OMIM:609056
HP:0001098	Abnormal fundus morphology	6904	TBCD	ORPHA:496641
HP:0001098	Abnormal fundus morphology	6904	TBCD	OMIM:617193
HP:0001098	Abnormal fundus morphology	5934	RBL2	OMIM:619690
HP:0001098	Abnormal fundus morphology	56915	EXOSC5	OMIM:619576
HP:0001098	Abnormal fundus morphology	55572	FOXRED1	OMIM:618241
HP:0001098	Abnormal fundus morphology	55572	FOXRED1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	123263	MTFMT	OMIM:618248
HP:0001098	Abnormal fundus morphology	123263	MTFMT	OMIM:614947
HP:0001098	Abnormal fundus morphology	123263	MTFMT	ORPHA:255241
HP:0001098	Abnormal fundus morphology	51079	NDUFA13	OMIM:618249
HP:0001098	Abnormal fundus morphology	51079	NDUFA13	ORPHA:255241
HP:0001098	Abnormal fundus morphology	2077	ERF	ORPHA:207
HP:0001098	Abnormal fundus morphology	549	AUH	OMIM:250950
HP:0001098	Abnormal fundus morphology	1312	COMT	ORPHA:567
HP:0001098	Abnormal fundus morphology	221037	JMJD1C	ORPHA:567
HP:0001098	Abnormal fundus morphology	2812	GP1BB	ORPHA:567
HP:0001098	Abnormal fundus morphology	6239	RREB1	ORPHA:567
HP:0001098	Abnormal fundus morphology	6899	TBX1	ORPHA:567
HP:0001098	Abnormal fundus morphology	7290	HIRA	ORPHA:567
HP:0001098	Abnormal fundus morphology	9632	SEC24C	ORPHA:567
HP:0001098	Abnormal fundus morphology	7353	UFD1	ORPHA:567
HP:0001098	Abnormal fundus morphology	421	ARVCF	ORPHA:567
HP:0001098	Abnormal fundus morphology	2717	GLA	ORPHA:324
HP:0001098	Abnormal fundus morphology	84314	TMEM107	ORPHA:564
HP:0001098	Abnormal fundus morphology	26123	TCTN3	ORPHA:564
HP:0001098	Abnormal fundus morphology	79867	TCTN2	ORPHA:564
HP:0001098	Abnormal fundus morphology	80776	B9D2	ORPHA:564
HP:0001098	Abnormal fundus morphology	79600	TCTN1	ORPHA:564
HP:0001098	Abnormal fundus morphology	51259	TMEM216	ORPHA:564
HP:0001098	Abnormal fundus morphology	79583	TMEM231	ORPHA:564
HP:0001098	Abnormal fundus morphology	79770	TXNDC15	ORPHA:564
HP:0001098	Abnormal fundus morphology	27077	B9D1	ORPHA:564
HP:0001098	Abnormal fundus morphology	23322	RPGRIP1L	ORPHA:564
HP:0001098	Abnormal fundus morphology	65062	TMEM237	ORPHA:564
HP:0001098	Abnormal fundus morphology	65062	TMEM237	OMIM:614424
HP:0001098	Abnormal fundus morphology	112812	FDX2	OMIM:251900
HP:0001098	Abnormal fundus morphology	51102	MECR	OMIM:617282
HP:0001098	Abnormal fundus morphology	51102	MECR	ORPHA:508093
HP:0001098	Abnormal fundus morphology	23258	DENND5A	OMIM:617281
HP:0001098	Abnormal fundus morphology	4784	NFIX	ORPHA:561
HP:0001098	Abnormal fundus morphology	9758	FRMPD4	OMIM:300983
HP:0001098	Abnormal fundus morphology	54681	P4HTM	OMIM:618493
HP:0001098	Abnormal fundus morphology	4700	NDUFA6	OMIM:618253
HP:0001098	Abnormal fundus morphology	2071	ERCC3	OMIM:610651
HP:0001098	Abnormal fundus morphology	2071	ERCC3	ORPHA:910
HP:0001098	Abnormal fundus morphology	2071	ERCC3	ORPHA:220295
HP:0001098	Abnormal fundus morphology	5573	PRKAR1A	OMIM:101800
HP:0001098	Abnormal fundus morphology	64374	SIL1	ORPHA:559
HP:0001098	Abnormal fundus morphology	51763	INPP5K	ORPHA:559
HP:0001098	Abnormal fundus morphology	60386	SLC25A19	ORPHA:99742
HP:0001098	Abnormal fundus morphology	60386	SLC25A19	OMIM:607196
HP:0001098	Abnormal fundus morphology	84065	TMEM222	OMIM:619470
HP:0001098	Abnormal fundus morphology	29926	GMPPA	ORPHA:869
HP:0001098	Abnormal fundus morphology	60684	TRAPPC11	ORPHA:869
HP:0001098	Abnormal fundus morphology	8086	AAAS	ORPHA:869
HP:0001098	Abnormal fundus morphology	8086	AAAS	OMIM:231550
HP:0001098	Abnormal fundus morphology	526	ATP6V1B2	ORPHA:79500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	ORPHA:79500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	ORPHA:352596
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	OMIM:220500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	OMIM:615338
HP:0001098	Abnormal fundus morphology	136647	MPLKIP	OMIM:234050
HP:0001098	Abnormal fundus morphology	493856	CISD2	OMIM:604928
HP:0001098	Abnormal fundus morphology	493856	CISD2	ORPHA:3463
HP:0001098	Abnormal fundus morphology	22978	NT5C2	ORPHA:320396
HP:0001098	Abnormal fundus morphology	22978	NT5C2	OMIM:613162
HP:0001098	Abnormal fundus morphology	100147744	RNU7-1	OMIM:619487
HP:0001098	Abnormal fundus morphology	51715	RAB23	OMIM:201000
HP:0001098	Abnormal fundus morphology	79152	FA2H	ORPHA:171629
HP:0001098	Abnormal fundus morphology	79152	FA2H	ORPHA:329308
HP:0001098	Abnormal fundus morphology	79152	FA2H	OMIM:612319
HP:0001098	Abnormal fundus morphology	9373	PLAA	ORPHA:521426
HP:0001098	Abnormal fundus morphology	9373	PLAA	OMIM:617527
HP:0001098	Abnormal fundus morphology	23516	SLC39A14	OMIM:144755
HP:0001098	Abnormal fundus morphology	23636	NUP62	ORPHA:225154
HP:0001098	Abnormal fundus morphology	23636	NUP62	OMIM:271930
HP:0001098	Abnormal fundus morphology	103	ADAR	ORPHA:225154
HP:0001098	Abnormal fundus morphology	6389	SDHA	OMIM:619259
HP:0001098	Abnormal fundus morphology	6389	SDHA	ORPHA:255241
HP:0001098	Abnormal fundus morphology	6389	SDHA	OMIM:252011
HP:0001098	Abnormal fundus morphology	84231	TRAF7	OMIM:618164
HP:0001098	Abnormal fundus morphology	4668	NAGA	OMIM:609241
HP:0001098	Abnormal fundus morphology	4668	NAGA	ORPHA:79279
HP:0001098	Abnormal fundus morphology	131118	DNAJC19	ORPHA:66634
HP:0001098	Abnormal fundus morphology	131118	DNAJC19	OMIM:610198
HP:0001098	Abnormal fundus morphology	51594	NBAS	OMIM:614800
HP:0001098	Abnormal fundus morphology	11043	MID2	OMIM:300928
HP:0001098	Abnormal fundus morphology	2581	GALC	ORPHA:206436
HP:0001098	Abnormal fundus morphology	2581	GALC	OMIM:245200
HP:0001098	Abnormal fundus morphology	84233	TMEM126A	OMIM:612989
HP:0001098	Abnormal fundus morphology	9897	WASHC5	ORPHA:7
HP:0001098	Abnormal fundus morphology	28952	CCDC22	ORPHA:7
HP:0001098	Abnormal fundus morphology	1678	TIMM8A	ORPHA:52368
HP:0001098	Abnormal fundus morphology	129285	PPP1R21	OMIM:619383
HP:0001098	Abnormal fundus morphology	114034	TOE1	ORPHA:284339
HP:0001098	Abnormal fundus morphology	114034	TOE1	OMIM:614969
HP:0001098	Abnormal fundus morphology	4038	LRP4	ORPHA:3152
HP:0001098	Abnormal fundus morphology	1496	CTNNA2	OMIM:618174
HP:0001098	Abnormal fundus morphology	27445	PCLO	OMIM:608027
HP:0001098	Abnormal fundus morphology	8517	IKBKG	OMIM:308300
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	OMIM:610217
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	ORPHA:35069
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	OMIM:256600
HP:0001098	Abnormal fundus morphology	10134	BCAP31	OMIM:300475
HP:0001098	Abnormal fundus morphology	10134	BCAP31	ORPHA:369939
HP:0001098	Abnormal fundus morphology	23769	FLRT1	ORPHA:320406
HP:0001098	Abnormal fundus morphology	64837	KLC2	ORPHA:320406
HP:0001098	Abnormal fundus morphology	64837	KLC2	OMIM:609541
HP:0001098	Abnormal fundus morphology	4570	MT-TN	OMIM:220110
HP:0001098	Abnormal fundus morphology	6834	SURF1	OMIM:220110
HP:0001098	Abnormal fundus morphology	6834	SURF1	ORPHA:70474
HP:0001098	Abnormal fundus morphology	6834	SURF1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	25821	MTO1	OMIM:614702
HP:0001098	Abnormal fundus morphology	145173	B3GLCT	ORPHA:709
HP:0001098	Abnormal fundus morphology	2896	GRN	OMIM:614706
HP:0001098	Abnormal fundus morphology	80207	OPA3	OMIM:165300
HP:0001098	Abnormal fundus morphology	80207	OPA3	OMIM:258501
HP:0001098	Abnormal fundus morphology	80207	OPA3	ORPHA:67036
HP:0001098	Abnormal fundus morphology	79581	SLC52A2	OMIM:614707
HP:0001098	Abnormal fundus morphology	51218	GLRX5	ORPHA:401866
HP:0001098	Abnormal fundus morphology	51218	GLRX5	OMIM:616859
HP:0001098	Abnormal fundus morphology	374654	KIF7	OMIM:200990
HP:0001098	Abnormal fundus morphology	170302	ARX	OMIM:300004
HP:0001098	Abnormal fundus morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0001098	Abnormal fundus morphology	9640	ZNF592	ORPHA:83472
HP:0001098	Abnormal fundus morphology	1717	DHCR7	ORPHA:818
HP:0001098	Abnormal fundus morphology	5290	PIK3CA	ORPHA:99802
HP:0001098	Abnormal fundus morphology	5290	PIK3CA	ORPHA:60040
HP:0001098	Abnormal fundus morphology	2475	MTOR	ORPHA:99802
HP:0001098	Abnormal fundus morphology	10000	AKT3	ORPHA:99802
HP:0001098	Abnormal fundus morphology	271	AMPD2	OMIM:615809
HP:0001098	Abnormal fundus morphology	51204	TACO1	OMIM:619052
HP:0001098	Abnormal fundus morphology	51204	TACO1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	55037	PTCD3	OMIM:619057
HP:0001098	Abnormal fundus morphology	1757	SARDH	ORPHA:3129
HP:0001098	Abnormal fundus morphology	1716	DGUOK	ORPHA:329314
HP:0001098	Abnormal fundus morphology	55157	DARS2	ORPHA:137898
HP:0001098	Abnormal fundus morphology	686	BTD	OMIM:253260
HP:0001098	Abnormal fundus morphology	686	BTD	ORPHA:79241
HP:0001098	Abnormal fundus morphology	546	ATRX	ORPHA:847
HP:0001098	Abnormal fundus morphology	546	ATRX	OMIM:309580
HP:0001098	Abnormal fundus morphology	10367	MICU1	ORPHA:401768
HP:0001098	Abnormal fundus morphology	10367	MICU1	OMIM:615673
HP:0001098	Abnormal fundus morphology	9839	ZEB2	ORPHA:261552
HP:0001098	Abnormal fundus morphology	10382	TUBB4A	OMIM:612438
HP:0001098	Abnormal fundus morphology	84947	SERAC1	OMIM:614739
HP:0001098	Abnormal fundus morphology	7025	NR2F1	ORPHA:401777
HP:0001098	Abnormal fundus morphology	7025	NR2F1	OMIM:615722
HP:0001098	Abnormal fundus morphology	1593	CYP27A1	ORPHA:909
HP:0001098	Abnormal fundus morphology	11340	EXOSC8	ORPHA:2254
HP:0001098	Abnormal fundus morphology	5393	EXOSC9	ORPHA:2254
HP:0001098	Abnormal fundus morphology	23287	AGTPBP1	ORPHA:2254
HP:0001098	Abnormal fundus morphology	51010	EXOSC3	ORPHA:2254
HP:0001098	Abnormal fundus morphology	7443	VRK1	ORPHA:2254
HP:0001098	Abnormal fundus morphology	3748	KCNC3	ORPHA:98768
HP:0001098	Abnormal fundus morphology	3748	KCNC3	OMIM:605259
HP:0001098	Abnormal fundus morphology	11128	POLR3A	ORPHA:447896
HP:0001098	Abnormal fundus morphology	11128	POLR3A	ORPHA:3455
HP:0001098	Abnormal fundus morphology	11128	POLR3A	OMIM:607694
HP:0001098	Abnormal fundus morphology	8050	PDHX	OMIM:245349
HP:0001098	Abnormal fundus morphology	4256	MGP	ORPHA:85202
HP:0001098	Abnormal fundus morphology	25828	TXN2	OMIM:616811
HP:0001098	Abnormal fundus morphology	471	ATIC	OMIM:608688
HP:0001098	Abnormal fundus morphology	23065	EMC1	ORPHA:480898
HP:0001098	Abnormal fundus morphology	23065	EMC1	OMIM:616875
HP:0001098	Abnormal fundus morphology	6310	ATXN1	ORPHA:98755
HP:0001098	Abnormal fundus morphology	6310	ATXN1	OMIM:164400
HP:0001098	Abnormal fundus morphology	8573	CASK	ORPHA:163937
HP:0001098	Abnormal fundus morphology	55275	VPS53	OMIM:615851
HP:0001098	Abnormal fundus morphology	50628	GEMIN4	OMIM:617913
HP:0001098	Abnormal fundus morphology	283989	TSEN54	OMIM:277470
HP:0001098	Abnormal fundus morphology	81846	SBF2	ORPHA:99956
HP:0001098	Abnormal fundus morphology	22856	CHSY1	OMIM:605282
HP:0001098	Abnormal fundus morphology	22856	CHSY1	ORPHA:363417
HP:0001098	Abnormal fundus morphology	2776	GNAQ	ORPHA:3205
HP:0001098	Abnormal fundus morphology	92154	MTSS2	OMIM:620086
HP:0001098	Abnormal fundus morphology	28962	OSTM1	OMIM:259720
HP:0001098	Abnormal fundus morphology	23590	PDSS1	OMIM:614651
HP:0001098	Abnormal fundus morphology	79628	SH3TC2	ORPHA:99949
HP:0001098	Abnormal fundus morphology	9230	RAB11B	OMIM:617807
HP:0001098	Abnormal fundus morphology	90417	KNSTRN	OMIM:613328
HP:0001098	Abnormal fundus morphology	5293	PIK3CD	OMIM:613328
HP:0001098	Abnormal fundus morphology	7507	XPA	ORPHA:910
HP:0001098	Abnormal fundus morphology	7508	XPC	ORPHA:910
HP:0001098	Abnormal fundus morphology	1643	DDB2	ORPHA:910
HP:0001098	Abnormal fundus morphology	8600	TNFSF11	OMIM:259710
HP:0001098	Abnormal fundus morphology	10075	HUWE1	OMIM:309590
HP:0001098	Abnormal fundus morphology	53616	ADAM22	OMIM:617933
HP:0001098	Abnormal fundus morphology	7473	WNT3	ORPHA:3301
HP:0001098	Abnormal fundus morphology	340419	RSPO2	ORPHA:3301
HP:0001098	Abnormal fundus morphology	1806	DPYD	OMIM:274270
HP:0001098	Abnormal fundus morphology	998	CDC42	OMIM:616737
HP:0001098	Abnormal fundus morphology	998	CDC42	ORPHA:487796
HP:0001098	Abnormal fundus morphology	10413	YAP1	ORPHA:1473
HP:0001098	Abnormal fundus morphology	10560	SLC19A2	ORPHA:49827
HP:0001098	Abnormal fundus morphology	10560	SLC19A2	OMIM:249270
HP:0001098	Abnormal fundus morphology	6314	ATXN7	OMIM:164500
HP:0001098	Abnormal fundus morphology	10342	TFG	ORPHA:431329
HP:0001098	Abnormal fundus morphology	10342	TFG	OMIM:615658
HP:0001098	Abnormal fundus morphology	9512	PMPCB	OMIM:617954
HP:0001098	Abnormal fundus morphology	2058	EPRS1	OMIM:617951
HP:0001098	Abnormal fundus morphology	54974	THG1L	OMIM:618800
HP:0001098	Abnormal fundus morphology	5604	MAP2K1	ORPHA:1340
HP:0001098	Abnormal fundus morphology	5605	MAP2K2	ORPHA:1340
HP:0001098	Abnormal fundus morphology	3845	KRAS	ORPHA:1340
HP:0001098	Abnormal fundus morphology	259232	NALCN	OMIM:615419
HP:0001098	Abnormal fundus morphology	128989	TANGO2	ORPHA:480864
HP:0001098	Abnormal fundus morphology	128989	TANGO2	OMIM:616878
HP:0001098	Abnormal fundus morphology	64093	SMOC1	ORPHA:1106
HP:0001098	Abnormal fundus morphology	9420	CYP7B1	OMIM:270800
HP:0001098	Abnormal fundus morphology	4007	PRICKLE3	OMIM:308905
HP:0001098	Abnormal fundus morphology	57511	COG6	OMIM:614576
HP:0001098	Abnormal fundus morphology	1729	DIAPH1	OMIM:616632
HP:0001098	Abnormal fundus morphology	57572	DOCK6	OMIM:614219
HP:0001098	Abnormal fundus morphology	760	CA2	ORPHA:2785
HP:0001098	Abnormal fundus morphology	64840	PORCN	OMIM:305600
HP:0001098	Abnormal fundus morphology	51501	HIKESHI	OMIM:616881
HP:0001098	Abnormal fundus morphology	22934	RPIA	OMIM:608611
HP:0001098	Abnormal fundus morphology	7040	TGFB1	ORPHA:1328
HP:0001098	Abnormal fundus morphology	25915	NDUFAF3	ORPHA:70474
HP:0001098	Abnormal fundus morphology	4714	NDUFB8	ORPHA:70474
HP:0001098	Abnormal fundus morphology	9997	SCO2	ORPHA:70474
HP:0001098	Abnormal fundus morphology	6452	SH3BP2	ORPHA:184
HP:0001098	Abnormal fundus morphology	51124	IER3IP1	OMIM:614231
HP:0001098	Abnormal fundus morphology	51816	ADA2	OMIM:615688
HP:0001098	Abnormal fundus morphology	55704	CCDC88A	OMIM:617507
HP:0001098	Abnormal fundus morphology	54676	GTPBP2	OMIM:617988
HP:0001098	Abnormal fundus morphology	5456	POU3F4	ORPHA:1435
HP:0001098	Abnormal fundus morphology	80704	SLC19A3	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4723	NDUFV1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	55967	NDUFA12	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4724	NDUFS4	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4728	NDUFS8	ORPHA:255241
HP:0001098	Abnormal fundus morphology	137682	NDUFAF6	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4722	NDUFS3	ORPHA:255241
HP:0001098	Abnormal fundus morphology	5160	PDHA1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	100131801	PET100	ORPHA:255241
HP:0001098	Abnormal fundus morphology	1355	COX15	ORPHA:255241
HP:0001098	Abnormal fundus morphology	1892	ECHS1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	374291	NDUFS7	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4705	NDUFA10	ORPHA:255241
HP:0001098	Abnormal fundus morphology	51601	LIPT1	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4695	NDUFA2	ORPHA:255241
HP:0001098	Abnormal fundus morphology	4697	NDUFA4	ORPHA:255241
HP:0001098	Abnormal fundus morphology	5538	PPT1	OMIM:256730
HP:0001098	Abnormal fundus morphology	387	RHOA	OMIM:618727
HP:0001098	Abnormal fundus morphology	55315	SLC29A3	ORPHA:1782
HP:0001098	Abnormal fundus morphology	8777	MPDZ	OMIM:615219
HP:0001098	Abnormal fundus morphology	57410	SCYL1	ORPHA:466794
HP:0001098	Abnormal fundus morphology	35	ACADS	ORPHA:26792
HP:0001098	Abnormal fundus morphology	80169	CTC1	OMIM:612199
HP:0001098	Abnormal fundus morphology	10844	TUBGCP2	OMIM:618737
HP:0001098	Abnormal fundus morphology	221927	BRAT1	OMIM:614498
HP:0001098	Abnormal fundus morphology	55753	OGDHL	OMIM:619701
HP:0001098	Abnormal fundus morphology	10939	AFG3L2	OMIM:618977
HP:0001098	Abnormal fundus morphology	5297	PI4KA	OMIM:619708
HP:0001098	Abnormal fundus morphology	344	APOC2	OMIM:207750
HP:0001098	Abnormal fundus morphology	2538	G6PC1	OMIM:232200
HP:0001098	Abnormal fundus morphology	338328	GPIHBP1	OMIM:615947
HP:0001098	Abnormal fundus morphology	4023	LPL	OMIM:238600
HP:0001098	Abnormal fundus morphology	2542	SLC37A4	OMIM:232220
HP:0001098	Abnormal fundus morphology	3590	IL11RA	OMIM:614188
HP:0001098	Abnormal fundus morphology	6598	SMARCB1	ORPHA:2495
HP:0001098	Abnormal fundus morphology	5155	PDGFB	ORPHA:2495
HP:0001098	Abnormal fundus morphology	51684	SUFU	ORPHA:2495
HP:0001098	Abnormal fundus morphology	6605	SMARCE1	ORPHA:2495
HP:0001098	Abnormal fundus morphology	6522	SLC4A2	OMIM:620366
HP:0001098	Abnormal fundus morphology	4313	MMP2	ORPHA:371428
HP:0001098	Abnormal fundus morphology	4323	MMP14	ORPHA:371428
HP:0001098	Abnormal fundus morphology	7386	UQCRFS1	OMIM:618775
HP:0001098	Abnormal fundus morphology	27151	CPAMD8	OMIM:617319
HP:0001098	Abnormal fundus morphology	57498	KIDINS220	OMIM:617296
HP:0001098	Abnormal fundus morphology	3291	HSD11B2	ORPHA:320
HP:0001098	Abnormal fundus morphology	3291	HSD11B2	OMIM:218030
HP:0001098	Abnormal fundus morphology	2034	EPAS1	ORPHA:276621
HP:0001098	Abnormal fundus morphology	283652	SLC24A5	ORPHA:370097
HP:0001098	Abnormal fundus morphology	8787	RGS9	OMIM:608415
HP:0001098	Abnormal fundus morphology	57105	CYSLTR2	ORPHA:39044
HP:0001098	Abnormal fundus morphology	23451	SF3B1	ORPHA:39044
HP:0001098	Abnormal fundus morphology	2591	GALNT3	OMIM:211900
HP:0001098	Abnormal fundus morphology	6609	SMPD1	OMIM:607616
HP:0001098	Abnormal fundus morphology	9382	COG1	ORPHA:263508
HP:0001098	Abnormal fundus morphology	10682	EBP	OMIM:300960
HP:0001098	Abnormal fundus morphology	4094	MAF	OMIM:610202
HP:0001098	Abnormal fundus morphology	22901	ARSG	OMIM:618144
HP:0001098	Abnormal fundus morphology	406987	MIR204	OMIM:616722
HP:0001098	Abnormal fundus morphology	10273	STUB1	ORPHA:412057
HP:0001098	Abnormal fundus morphology	284217	LAMA1	OMIM:615960
HP:0001098	Abnormal fundus morphology	284217	LAMA1	ORPHA:370022
HP:0001098	Abnormal fundus morphology	56623	INPP5E	ORPHA:75858
HP:0001098	Abnormal fundus morphology	63915	BLOC1S5	OMIM:619172
HP:0001098	Abnormal fundus morphology	8943	AP3D1	OMIM:617050
HP:0001098	Abnormal fundus morphology	8943	AP3D1	ORPHA:1000
HP:0001098	Abnormal fundus morphology	8943	AP3D1	ORPHA:54
HP:0001098	Abnormal fundus morphology	3257	HPS1	OMIM:203300
HP:0001098	Abnormal fundus morphology	8546	AP3B1	OMIM:608233
HP:0001098	Abnormal fundus morphology	4935	GPR143	ORPHA:54
HP:0001098	Abnormal fundus morphology	4935	GPR143	OMIM:300500
HP:0001098	Abnormal fundus morphology	89781	HPS4	OMIM:614073
HP:0001098	Abnormal fundus morphology	11234	HPS5	OMIM:614074
HP:0001098	Abnormal fundus morphology	26258	BLOC1S6	OMIM:614171
HP:0001098	Abnormal fundus morphology	388552	BLOC1S3	OMIM:614077
HP:0001098	Abnormal fundus morphology	79803	HPS6	OMIM:614075
HP:0001098	Abnormal fundus morphology	84062	DTNBP1	OMIM:614076
HP:0001098	Abnormal fundus morphology	55714	TENM3	OMIM:615145
HP:0001098	Abnormal fundus morphology	6804	STX1A	ORPHA:904
HP:0001098	Abnormal fundus morphology	7461	CLIP2	ORPHA:904
HP:0001098	Abnormal fundus morphology	8468	FKBP6	ORPHA:904
HP:0001098	Abnormal fundus morphology	5982	RFC2	ORPHA:904
HP:0001098	Abnormal fundus morphology	2969	GTF2I	ORPHA:904
HP:0001098	Abnormal fundus morphology	3984	LIMK1	ORPHA:904
HP:0001098	Abnormal fundus morphology	9569	GTF2IRD1	ORPHA:904
HP:0001098	Abnormal fundus morphology	155382	VPS37D	ORPHA:904
HP:0001098	Abnormal fundus morphology	155368	METTL27	ORPHA:904
HP:0001098	Abnormal fundus morphology	114049	BUD23	ORPHA:904
HP:0001098	Abnormal fundus morphology	7458	EIF4H	ORPHA:904
HP:0001098	Abnormal fundus morphology	84163	GTF2IRD2	ORPHA:904
HP:0001098	Abnormal fundus morphology	9275	BCL7B	ORPHA:904
HP:0001098	Abnormal fundus morphology	26608	TBL2	ORPHA:904
HP:0001098	Abnormal fundus morphology	653361	NCF1	ORPHA:904
HP:0001098	Abnormal fundus morphology	135886	TMEM270	ORPHA:904
HP:0001098	Abnormal fundus morphology	51085	MLXIPL	ORPHA:904
HP:0001098	Abnormal fundus morphology	51085	MLXIPL	OMIM:194050
HP:0001098	Abnormal fundus morphology	9031	BAZ1B	ORPHA:904
HP:0001098	Abnormal fundus morphology	2006	ELN	ORPHA:904
HP:0001098	Abnormal fundus morphology	2006	ELN	OMIM:194050
HP:0001098	Abnormal fundus morphology	1822	ATN1	ORPHA:101
HP:0001098	Abnormal fundus morphology	3949	LDLR	ORPHA:391665
HP:0001098	Abnormal fundus morphology	255738	PCSK9	ORPHA:391665
HP:0001098	Abnormal fundus morphology	26119	LDLRAP1	ORPHA:391665
HP:0001098	Abnormal fundus morphology	64240	ABCG5	ORPHA:391665
HP:0001098	Abnormal fundus morphology	64241	ABCG8	ORPHA:391665
HP:0001098	Abnormal fundus morphology	51103	NDUFAF1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	51300	TIMMDC1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4716	NDUFB10	ORPHA:2609
HP:0001098	Abnormal fundus morphology	55863	TMEM126B	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4726	NDUFS6	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4709	NDUFB3	ORPHA:2609
HP:0001098	Abnormal fundus morphology	80224	NUBPL	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4715	NDUFB9	ORPHA:2609
HP:0001098	Abnormal fundus morphology	55717	WDR11	OMIM:620237
HP:0001098	Abnormal fundus morphology	1969	EPHA2	OMIM:116600
HP:0001098	Abnormal fundus morphology	8565	YARS1	OMIM:619418
HP:0001098	Abnormal fundus morphology	2629	GBA1	OMIM:230800
HP:0001098	Abnormal fundus morphology	169522	KCNV2	OMIM:610356
HP:0001098	Abnormal fundus morphology	2811	GP1BA	OMIM:258660
HP:0001098	Abnormal fundus morphology	4854	NOTCH3	OMIM:125310
HP:0001098	Abnormal fundus morphology	83696	TRAPPC9	ORPHA:352530
HP:0001098	Abnormal fundus morphology	4595	MUTYH	ORPHA:247798
HP:0001098	Abnormal fundus morphology	388015	RTL1	ORPHA:96334
HP:0001098	Abnormal fundus morphology	8788	DLK1	ORPHA:96334
HP:0001098	Abnormal fundus morphology	55384	MEG3	ORPHA:96334
HP:0001098	Abnormal fundus morphology	875	CBS	ORPHA:394
HP:0001098	Abnormal fundus morphology	54806	AHI1	ORPHA:791
HP:0001098	Abnormal fundus morphology	8100	IFT88	ORPHA:791
HP:0001098	Abnormal fundus morphology	762	CA4	ORPHA:791
HP:0001098	Abnormal fundus morphology	23370	ARHGEF18	ORPHA:791
HP:0001098	Abnormal fundus morphology	55624	POMGNT1	ORPHA:791
HP:0001098	Abnormal fundus morphology	3617	IMPG1	ORPHA:791
HP:0001098	Abnormal fundus morphology	6873	TAF2	ORPHA:397951
HP:0001098	Abnormal fundus morphology	63916	ELMO2	ORPHA:3019
HP:0001098	Abnormal fundus morphology	5956	OPN1LW	ORPHA:1872
HP:0001098	Abnormal fundus morphology	5956	OPN1LW	ORPHA:16
HP:0001098	Abnormal fundus morphology	778	CACNA1F	ORPHA:1872
HP:0001098	Abnormal fundus morphology	778	CACNA1F	ORPHA:215
HP:0001098	Abnormal fundus morphology	8754	ADAM9	ORPHA:1872
HP:0001098	Abnormal fundus morphology	22999	RIMS1	ORPHA:1872
HP:0001098	Abnormal fundus morphology	128338	DRAM2	ORPHA:1872
HP:0001098	Abnormal fundus morphology	2652	OPN1MW	ORPHA:1872
HP:0001098	Abnormal fundus morphology	2652	OPN1MW	ORPHA:16
HP:0001098	Abnormal fundus morphology	9094	UNC119	ORPHA:1872
HP:0001098	Abnormal fundus morphology	93589	CACNA2D4	ORPHA:1872
HP:0001098	Abnormal fundus morphology	93589	CACNA2D4	ORPHA:215
HP:0001098	Abnormal fundus morphology	282809	POC1B	ORPHA:1872
HP:0001098	Abnormal fundus morphology	83394	PITPNM3	ORPHA:1872
HP:0001098	Abnormal fundus morphology	23093	TTLL5	ORPHA:1872
HP:0001098	Abnormal fundus morphology	9364	RAB28	ORPHA:1872
HP:0001098	Abnormal fundus morphology	22880	MORC2	ORPHA:466768
HP:0001098	Abnormal fundus morphology	1908	EDN3	ORPHA:897
HP:0001098	Abnormal fundus morphology	4286	MITF	ORPHA:897
HP:0001098	Abnormal fundus morphology	1910	EDNRB	ORPHA:897
HP:0001098	Abnormal fundus morphology	6663	SOX10	ORPHA:897
HP:0001098	Abnormal fundus morphology	5080	PAX6	ORPHA:35737
HP:0001098	Abnormal fundus morphology	65082	VPS33A	ORPHA:505248
HP:0001098	Abnormal fundus morphology	26022	TMEM98	ORPHA:35612
HP:0001098	Abnormal fundus morphology	6657	SOX2	ORPHA:35612
HP:0001098	Abnormal fundus morphology	220	ALDH1A3	ORPHA:35612
HP:0001098	Abnormal fundus morphology	646960	PRSS56	ORPHA:35612
HP:0001098	Abnormal fundus morphology	30062	RAX	ORPHA:35612
HP:0001098	Abnormal fundus morphology	5015	OTX2	ORPHA:35612
HP:0001098	Abnormal fundus morphology	4990	SIX6	ORPHA:35612
HP:0001098	Abnormal fundus morphology	6023	RMRP	ORPHA:175
HP:0001098	Abnormal fundus morphology	2068	ERCC2	ORPHA:1466
HP:0001098	Abnormal fundus morphology	2067	ERCC1	ORPHA:1466
HP:0001098	Abnormal fundus morphology	2074	ERCC6	ORPHA:1466
HP:0001098	Abnormal fundus morphology	2073	ERCC5	ORPHA:1466
HP:0001098	Abnormal fundus morphology	3423	IDS	ORPHA:217085
HP:0001098	Abnormal fundus morphology	3423	IDS	ORPHA:217093
HP:0001098	Abnormal fundus morphology	3423	IDS	OMIM:309900
HP:0001098	Abnormal fundus morphology	54539	NDUFB11	ORPHA:2556
HP:0001098	Abnormal fundus morphology	1349	COX7B	ORPHA:2556
HP:0001098	Abnormal fundus morphology	3052	HCCS	ORPHA:2556
HP:0001098	Abnormal fundus morphology	1130	LYST	ORPHA:167
HP:0001098	Abnormal fundus morphology	7274	TTPA	ORPHA:96
HP:0001098	Abnormal fundus morphology	54476	RNF216	ORPHA:1173
HP:0001098	Abnormal fundus morphology	10908	PNPLA6	ORPHA:1173
HP:0001098	Abnormal fundus morphology	4000	LMNA	ORPHA:79474
HP:0001098	Abnormal fundus morphology	2202	EFEMP1	ORPHA:75376
HP:0001098	Abnormal fundus morphology	3075	CFH	ORPHA:75376
HP:0001098	Abnormal fundus morphology	3426	CFI	ORPHA:75376
HP:0001098	Abnormal fundus morphology	55112	DYNC2I1	ORPHA:474
HP:0001098	Abnormal fundus morphology	153241	CEP120	ORPHA:474
HP:0001098	Abnormal fundus morphology	57560	IFT80	ORPHA:474
HP:0001098	Abnormal fundus morphology	51626	DYNC2LI1	ORPHA:474
HP:0001098	Abnormal fundus morphology	79659	DYNC2H1	ORPHA:474
HP:0001098	Abnormal fundus morphology	79809	TTC21B	ORPHA:474
HP:0001098	Abnormal fundus morphology	343035	RD3	ORPHA:65
HP:0001098	Abnormal fundus morphology	10383	TUBB4B	ORPHA:65
HP:0001098	Abnormal fundus morphology	5130	PCYT1A	ORPHA:65
HP:0001098	Abnormal fundus morphology	5130	PCYT1A	ORPHA:85167
HP:0001098	Abnormal fundus morphology	392255	GDF6	ORPHA:65
HP:0001098	Abnormal fundus morphology	6197	RPS6KA3	ORPHA:192
HP:0001098	Abnormal fundus morphology	157680	VPS13B	ORPHA:193
HP:0001098	Abnormal fundus morphology	7486	WRN	ORPHA:902
HP:0001098	Abnormal fundus morphology	63895	PIEZO2	OMIM:108145
HP:0001098	Abnormal fundus morphology	5184	PEPD	ORPHA:742
HP:0001098	Abnormal fundus morphology	5728	PTEN	ORPHA:744
HP:0001098	Abnormal fundus morphology	207	AKT1	ORPHA:744
HP:0001098	Abnormal fundus morphology	285362	SUMF1	ORPHA:585
HP:0001098	Abnormal fundus morphology	4982	TNFRSF11B	ORPHA:2801
HP:0001098	Abnormal fundus morphology	8792	TNFRSF11A	ORPHA:2801
HP:0001098	Abnormal fundus morphology	3832	KIF11	ORPHA:2526
HP:0001098	Abnormal fundus morphology	1356	CP	ORPHA:48818
HP:0001098	Abnormal fundus morphology	4308	TRPM1	ORPHA:215
HP:0001098	Abnormal fundus morphology	57010	CABP4	ORPHA:215
HP:0001098	Abnormal fundus morphology	345193	LRIT3	ORPHA:215
HP:0001098	Abnormal fundus morphology	2916	GRM6	ORPHA:215
HP:0001098	Abnormal fundus morphology	440435	GPR179	ORPHA:215
HP:0001098	Abnormal fundus morphology	2784	GNB3	ORPHA:215
HP:0001098	Abnormal fundus morphology	60506	NYX	ORPHA:215
HP:0001098	Abnormal fundus morphology	57192	MCOLN1	ORPHA:578
HP:0001098	Abnormal fundus morphology	85378	TUBGCP6	ORPHA:2518
HP:0001098	Abnormal fundus morphology	85378	TUBGCP6	OMIM:251270
HP:0001098	Abnormal fundus morphology	27229	TUBGCP4	ORPHA:2518
HP:0001098	Abnormal fundus morphology	10733	PLK4	ORPHA:2518
HP:0001098	Abnormal fundus morphology	2317	FLNB	OMIM:272460
HP:0001098	Abnormal fundus morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0001098	Abnormal fundus morphology	22930	RAB3GAP1	ORPHA:2510
HP:0001098	Abnormal fundus morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001098	Abnormal fundus morphology	22931	RAB18	ORPHA:2510
HP:0001098	Abnormal fundus morphology	128637	TBC1D20	ORPHA:2510
HP:0001098	Abnormal fundus morphology	201163	FLCN	ORPHA:122
HP:0001098	Abnormal fundus morphology	3030	HADHA	ORPHA:5
HP:0001098	Abnormal fundus morphology	4509	MT-ATP8	ORPHA:480
HP:0001098	Abnormal fundus morphology	9990	SLC12A6	ORPHA:1496
HP:0001098	Abnormal fundus morphology	57724	EPG5	ORPHA:1493
HP:0001098	Abnormal fundus morphology	27130	INVS	ORPHA:3156
HP:0001098	Abnormal fundus morphology	4867	NPHP1	ORPHA:3156
HP:0001098	Abnormal fundus morphology	27031	NPHP3	ORPHA:3156
HP:0001098	Abnormal fundus morphology	22897	CEP164	ORPHA:3156
HP:0001098	Abnormal fundus morphology	4157	MC1R	ORPHA:79432
HP:0001098	Abnormal fundus morphology	4948	OCA2	ORPHA:79432
HP:0001098	Abnormal fundus morphology	7299	TYR	ORPHA:79434
HP:0001098	Abnormal fundus morphology	51151	SLC45A2	ORPHA:79435
HP:0001098	Abnormal fundus morphology	1001	CDH3	ORPHA:1897
HP:0001098	Abnormal fundus morphology	7840	ALMS1	ORPHA:64
HP:0001098	Abnormal fundus morphology	285440	CYP4V2	ORPHA:41751
HP:0001098	Abnormal fundus morphology	6785	ELOVL4	ORPHA:827
HP:0001098	Abnormal fundus morphology	6247	RS1	OMIM:312700
HP:0001098	Abnormal fundus morphology	224	ALDH3A2	OMIM:270200
HP:0001098	Abnormal fundus morphology	83552	MFRP	OMIM:611040
HP:0001098	Abnormal fundus morphology	7078	TIMP3	ORPHA:59181
HP:0001098	Abnormal fundus morphology	1462	VCAN	OMIM:143200
HP:0001098	Abnormal fundus morphology	4952	OCRL	ORPHA:534
HP:0001098	Abnormal fundus morphology	57479	PRR12	OMIM:619539
HP:0001098	Abnormal fundus morphology	7360	UGP2	OMIM:618744
HP:0001098	Abnormal fundus morphology	4166	CHST6	OMIM:217800
HP:0001098	Abnormal fundus morphology	93426	SYCE1	OMIM:616947
HP:0001098	Abnormal fundus morphology	2658	GDF2	ORPHA:774
HP:0001098	Abnormal fundus morphology	4089	SMAD4	ORPHA:774
HP:0001098	Abnormal fundus morphology	2022	ENG	ORPHA:774
HP:0001098	Abnormal fundus morphology	79991	STN1	OMIM:617341
HP:0001098	Abnormal fundus morphology	5111	PCNA	ORPHA:438134
HP:0001098	Abnormal fundus morphology	9935	MAFB	ORPHA:233
HP:0001098	Abnormal fundus morphology	1123	CHN1	ORPHA:233
HP:0001098	Abnormal fundus morphology	3192	HNRNPU	ORPHA:238769
HP:0001098	Abnormal fundus morphology	54802	TRIT1	OMIM:617873
HP:0001098	Abnormal fundus morphology	55770	EXOC2	OMIM:619306
HP:0001098	Abnormal fundus morphology	5361	PLXNA1	OMIM:619955
HP:0001098	Abnormal fundus morphology	9573	GDF3	OMIM:613703
HP:0001098	Abnormal fundus morphology	84196	USP48	ORPHA:96253
HP:0001098	Abnormal fundus morphology	7157	TP53	ORPHA:96253
HP:0001098	Abnormal fundus morphology	9101	USP8	ORPHA:96253
HP:0001098	Abnormal fundus morphology	2908	NR3C1	ORPHA:96253
HP:0001098	Abnormal fundus morphology	1497	CTNS	OMIM:219800
HP:0001098	Abnormal fundus morphology	1497	CTNS	OMIM:219900
HP:0001098	Abnormal fundus morphology	4683	NBN	OMIM:251260
HP:0001098	Abnormal fundus morphology	4329	ALDH6A1	OMIM:614105
HP:0001098	Abnormal fundus morphology	23761	PISD	OMIM:618889
HP:0001098	Abnormal fundus morphology	27072	VPS41	OMIM:619389
HP:0001098	Abnormal fundus morphology	51098	IFT52	OMIM:617102
HP:0001098	Abnormal fundus morphology	8449	DHX16	OMIM:618733
HP:0001098	Abnormal fundus morphology	1121	CHM	OMIM:303100
HP:0001098	Abnormal fundus morphology	94137	RP1L1	OMIM:618826
HP:0001098	Abnormal fundus morphology	3035	HARS1	OMIM:614504
HP:0001098	Abnormal fundus morphology	84839	RAX2	OMIM:620102
HP:0001098	Abnormal fundus morphology	25914	RTTN	ORPHA:468631
HP:0001098	Abnormal fundus morphology	80781	COL18A1	OMIM:267750
HP:0001098	Abnormal fundus morphology	49855	SCAPER	OMIM:618195
HP:0001098	Abnormal fundus morphology	5959	RDH5	ORPHA:52427
HP:0001098	Abnormal fundus morphology	55812	SPATA7	ORPHA:364055
HP:0001098	Abnormal fundus morphology	167691	LCA5	ORPHA:364055
HP:0001098	Abnormal fundus morphology	64801	ARV1	OMIM:617020
HP:0001098	Abnormal fundus morphology	3419	IDH3A	OMIM:619007
HP:0001098	Abnormal fundus morphology	85015	USP45	OMIM:618513
HP:0001098	Abnormal fundus morphology	57096	RPGRIP1	OMIM:613826
HP:0001098	Abnormal fundus morphology	6742	SSBP1	OMIM:165510
HP:0001098	Abnormal fundus morphology	22926	ATF6	ORPHA:49382
HP:0001098	Abnormal fundus morphology	5146	PDE6C	ORPHA:49382
HP:0001098	Abnormal fundus morphology	5149	PDE6H	ORPHA:49382
HP:0001098	Abnormal fundus morphology	2780	GNAT2	ORPHA:49382
HP:0001098	Abnormal fundus morphology	1261	CNGA3	ORPHA:49382
HP:0001098	Abnormal fundus morphology	54714	CNGB3	ORPHA:49382
HP:0001098	Abnormal fundus morphology	83723	TLCD3B	OMIM:619531
HP:0001098	Abnormal fundus morphology	112752	IFT43	OMIM:617871
HP:0001098	Abnormal fundus morphology	7275	TUB	OMIM:616188
HP:0001098	Abnormal fundus morphology	9187	SLC24A1	OMIM:613830
HP:0001098	Abnormal fundus morphology	26504	CNNM4	OMIM:217080
HP:0001098	Abnormal fundus morphology	6533	SLC6A6	OMIM:145350
HP:0001098	Abnormal fundus morphology	64802	NMNAT1	OMIM:608553
HP:0001098	Abnormal fundus morphology	64802	NMNAT1	OMIM:619260
HP:0001098	Abnormal fundus morphology	2072	ERCC4	OMIM:610965
HP:0001098	Abnormal fundus morphology	23155	CLCC1	OMIM:609913
HP:0001098	Abnormal fundus morphology	116150	NUS1	OMIM:617082
HP:0001098	Abnormal fundus morphology	2257	FGF12	OMIM:617166
HP:0001098	Abnormal fundus morphology	57670	KIAA1549	OMIM:618613
HP:0001098	Abnormal fundus morphology	145226	RDH12	OMIM:612712
HP:0001098	Abnormal fundus morphology	63901	FAM111A	OMIM:127000
HP:0001098	Abnormal fundus morphology	63901	FAM111A	ORPHA:93325
HP:0001098	Abnormal fundus morphology	59	ACTA2	OMIM:613834
HP:0001098	Abnormal fundus morphology	5077	PAX3	OMIM:193500
HP:0001098	Abnormal fundus morphology	26277	TINF2	OMIM:268130
HP:0001098	Abnormal fundus morphology	26277	TINF2	OMIM:613990
HP:0001098	Abnormal fundus morphology	220202	ATOH7	ORPHA:91495
HP:0001098	Abnormal fundus morphology	26278	SACS	ORPHA:98
HP:0001098	Abnormal fundus morphology	26278	SACS	OMIM:270550
HP:0001098	Abnormal fundus morphology	5159	PDGFRB	OMIM:601812
HP:0001098	Abnormal fundus morphology	7003	TEAD1	OMIM:108985
HP:0001098	Abnormal fundus morphology	10312	TCIRG1	ORPHA:210110
HP:0001098	Abnormal fundus morphology	1186	CLCN7	ORPHA:210110
HP:0001098	Abnormal fundus morphology	9842	PLEKHM1	ORPHA:210110
HP:0001098	Abnormal fundus morphology	1495	CTNNA1	OMIM:608970
HP:0001098	Abnormal fundus morphology	2301	FOXE3	ORPHA:83461
HP:0001098	Abnormal fundus morphology	5147	PDE6D	OMIM:615665
HP:0001098	Abnormal fundus morphology	2161	F12	ORPHA:330
HP:0001098	Abnormal fundus morphology	55214	P3H2	OMIM:614292
HP:0001098	Abnormal fundus morphology	146167	SLC38A8	OMIM:609218
HP:0001098	Abnormal fundus morphology	25974	MMACHC	ORPHA:79282
HP:0001098	Abnormal fundus morphology	22947	DUX4L1	ORPHA:269
HP:0001098	Abnormal fundus morphology	1789	DNMT3B	ORPHA:269
HP:0001098	Abnormal fundus morphology	23347	SMCHD1	ORPHA:269
HP:0001098	Abnormal fundus morphology	100288687	DUX4	ORPHA:269
HP:0001098	Abnormal fundus morphology	2296	FOXC1	ORPHA:250923
HP:0001098	Abnormal fundus morphology	54765	TRIM44	ORPHA:250923
HP:0001098	Abnormal fundus morphology	1743	DLST	ORPHA:29072
HP:0001098	Abnormal fundus morphology	5979	RET	ORPHA:29072
HP:0001098	Abnormal fundus morphology	23095	KIF1B	ORPHA:29072
HP:0001098	Abnormal fundus morphology	8402	SLC25A11	ORPHA:29072
HP:0001098	Abnormal fundus morphology	54949	SDHAF2	ORPHA:29072
HP:0001098	Abnormal fundus morphology	55654	TMEM127	ORPHA:29072
HP:0001098	Abnormal fundus morphology	6391	SDHC	ORPHA:29072
HP:0001098	Abnormal fundus morphology	4149	MAX	ORPHA:29072
HP:0001098	Abnormal fundus morphology	3458	IFNG	OMIM:613254
HP:0001098	Abnormal fundus morphology	5925	RB1	ORPHA:1587
HP:0001098	Abnormal fundus morphology	5925	RB1	OMIM:180200
HP:0001098	Abnormal fundus morphology	5925	RB1	OMIM:259500
HP:0001098	Abnormal fundus morphology	11200	CHEK2	OMIM:259500
HP:0001098	Abnormal fundus morphology	5476	CTSA	ORPHA:351
HP:0001098	Abnormal fundus morphology	5476	CTSA	OMIM:256540
HP:0001098	Abnormal fundus morphology	3074	HEXB	ORPHA:309155
HP:0001098	Abnormal fundus morphology	3074	HEXB	OMIM:268800
HP:0001098	Abnormal fundus morphology	3073	HEXA	OMIM:272800
HP:0001098	Abnormal fundus morphology	1615	DARS1	OMIM:615281
HP:0001098	Abnormal fundus morphology	2760	GM2A	ORPHA:309246
HP:0001098	Abnormal fundus morphology	54499	TMCO1	OMIM:213980
HP:0001098	Abnormal fundus morphology	54675	CRLS1	OMIM:620167
HP:0001098	Abnormal fundus morphology	64131	XYLT1	OMIM:264800
HP:0001098	Abnormal fundus morphology	64132	XYLT2	OMIM:264800
HP:0001098	Abnormal fundus morphology	7123	CLEC3B	OMIM:619977
HP:0001098	Abnormal fundus morphology	2201	FBN2	OMIM:616118
HP:0001098	Abnormal fundus morphology	2192	FBLN1	ORPHA:404451
HP:0001098	Abnormal fundus morphology	5076	PAX2	OMIM:120330
HP:0001098	Abnormal fundus morphology	83715	ESPN	OMIM:618632
HP:0001098	Abnormal fundus morphology	10516	FBLN5	OMIM:608895
HP:0001098	Abnormal fundus morphology	11235	PDCD10	ORPHA:221061
HP:0001098	Abnormal fundus morphology	83605	CCM2	ORPHA:221061
HP:0001098	Abnormal fundus morphology	889	KRIT1	ORPHA:221061
HP:0001098	Abnormal fundus morphology	1280	COL2A1	OMIM:108300
HP:0001098	Abnormal fundus morphology	4693	NDP	OMIM:305390
HP:0001098	Abnormal fundus morphology	3769	KCNJ13	OMIM:193230
HP:0001098	Abnormal fundus morphology	5322	PLA2G5	OMIM:228980
HP:0001098	Abnormal fundus morphology	4942	OAT	OMIM:258870
HP:0001098	Abnormal fundus morphology	2483	FRG1	OMIM:158900
HP:0001098	Abnormal fundus morphology	4016	LOXL1	OMIM:177650
HP:0001098	Abnormal fundus morphology	462	SERPINC1	ORPHA:82
HP:0001098	Abnormal fundus morphology	5718	PSMD12	OMIM:617516
HP:0001098	Abnormal fundus morphology	7010	TEK	OMIM:617272
HP:0001098	Abnormal fundus morphology	1009	CDH11	OMIM:211380
HP:0001098	Abnormal fundus morphology	136371	ASB10	OMIM:603383
HP:0001098	Abnormal fundus morphology	23474	ETHE1	ORPHA:51188
HP:0001098	Abnormal fundus morphology	9993	DGCR2	OMIM:192430
HP:0001098	Abnormal fundus morphology	8220	ESS2	OMIM:192430
HP:0001098	Abnormal fundus morphology	8214	DGCR6	OMIM:192430
HP:0001098	Abnormal fundus morphology	54487	DGCR8	OMIM:192430
HP:0001098	Abnormal fundus morphology	1063	CENPF	OMIM:243605
HP:0001098	Abnormal fundus morphology	3913	LAMB2	OMIM:609049
HP:0001098	Abnormal fundus morphology	7490	WT1	OMIM:106210
HP:0001098	Abnormal fundus morphology	4976	OPA1	ORPHA:1215
HP:0001098	Abnormal fundus morphology	84277	DNAJC30	OMIM:619382
HP:0001098	Abnormal fundus morphology	157657	CFAP418	OMIM:614500
HP:0001098	Abnormal fundus morphology	5961	PRPH2	OMIM:169150
HP:0001098	Abnormal fundus morphology	10625	IVNS1ABP	OMIM:618969
HP:0001098	Abnormal fundus morphology	3932	LCK	OMIM:615758
HP:0001098	Abnormal fundus morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001098	Abnormal fundus morphology	529	ATP6V1E1	ORPHA:357074
HP:0001098	Abnormal fundus morphology	1545	CYP1B1	ORPHA:98977
HP:0001098	Abnormal fundus morphology	4653	MYOC	ORPHA:98977
HP:0001098	Abnormal fundus morphology	3490	IGFBP7	OMIM:614224
HP:0001098	Abnormal fundus morphology	7306	TYRP1	ORPHA:79433
HP:0001098	Abnormal fundus morphology	9699	RIMS2	OMIM:618970
HP:0001098	Abnormal fundus morphology	94	ACVRL1	OMIM:600376
HP:0001098	Abnormal fundus morphology	2673	GFPT1	OMIM:610542
HP:0001098	Abnormal fundus morphology	1181	CLCN2	OMIM:615651
HP:0001098	Abnormal fundus morphology	71	ACTG1	ORPHA:2995
HP:0001098	Abnormal fundus morphology	60	ACTB	ORPHA:2995
HP:0001098	Abnormal fundus morphology	23503	ZFYVE26	ORPHA:100996
HP:0001098	Abnormal fundus morphology	4758	NEU1	ORPHA:93400
HP:0001098	Abnormal fundus morphology	189	AGXT	OMIM:259900
HP:0001098	Abnormal fundus morphology	2615	LRRC32	OMIM:619074
HP:0001098	Abnormal fundus morphology	726	CAPN5	OMIM:193235
HP:0001098	Abnormal fundus morphology	3000	GUCY2D	ORPHA:75377
HP:0001098	Abnormal fundus morphology	2978	GUCA1A	ORPHA:75377
HP:0001098	Abnormal fundus morphology	9786	KIAA0586	ORPHA:397715
HP:0001098	Abnormal fundus morphology	11277	TREX1	ORPHA:247691
HP:0001098	Abnormal fundus morphology	348	APOE	OMIM:603075
HP:0001098	Abnormal fundus morphology	83872	HMCN1	OMIM:603075
HP:0001098	Abnormal fundus morphology	3078	CFHR1	OMIM:603075
HP:0001098	Abnormal fundus morphology	10878	CFHR3	OMIM:603075
HP:0001098	Abnormal fundus morphology	10058	ABCB6	OMIM:614497
HP:0001098	Abnormal fundus morphology	51134	CEP83	OMIM:615862
HP:0001098	Abnormal fundus morphology	26005	C2CD3	OMIM:615948
HP:0001098	Abnormal fundus morphology	6017	RLBP1	ORPHA:85128
HP:0001098	Abnormal fundus morphology	79848	CSPP1	OMIM:615636
HP:0001098	Abnormal fundus morphology	51112	TRAPPC12	OMIM:617669
HP:0001098	Abnormal fundus morphology	5950	RBP4	OMIM:616428
HP:0001098	Abnormal fundus morphology	6492	SIM1	ORPHA:398079
HP:0001098	Abnormal fundus morphology	54551	MAGEL2	ORPHA:398069
HP:0001098	Abnormal fundus morphology	1638	DCT	OMIM:619165
HP:0001098	Abnormal fundus morphology	10166	SLC25A15	ORPHA:415
HP:0001098	Abnormal fundus morphology	7428	VHL	ORPHA:892
HP:0001098	Abnormal fundus morphology	595	CCND1	ORPHA:892
HP:0001098	Abnormal fundus morphology	3105	HLA-A	ORPHA:179
HP:0001098	Abnormal fundus morphology	1499	CTNNB1	ORPHA:891
HP:0001098	Abnormal fundus morphology	23554	TSPAN12	ORPHA:891
HP:0001098	Abnormal fundus morphology	4041	LRP5	ORPHA:891
HP:0001098	Abnormal fundus morphology	79797	ZNF408	ORPHA:891
HP:0001098	Abnormal fundus morphology	8322	FZD4	ORPHA:891
HP:0001098	Abnormal fundus morphology	114902	C1QTNF5	ORPHA:67042
HP:0001098	Abnormal fundus morphology	138050	HGSNAT	OMIM:616544
HP:0001098	Abnormal fundus morphology	114548	NLRP3	OMIM:148200
HP:0001098	Abnormal fundus morphology	324	APC	ORPHA:99818
HP:0001098	Abnormal fundus morphology	4771	NF2	ORPHA:637
HP:0001098	Abnormal fundus morphology	4771	NF2	OMIM:101000
HP:0001098	Abnormal fundus morphology	51095	TRNT1	OMIM:616959
HP:0001098	Abnormal fundus morphology	51284	TLR7	OMIM:301080
HP:0001098	Abnormal fundus morphology	149233	IL23R	ORPHA:117
HP:0001098	Abnormal fundus morphology	6775	STAT4	ORPHA:117
HP:0001098	Abnormal fundus morphology	3586	IL10	ORPHA:117
HP:0001098	Abnormal fundus morphology	4210	MEFV	ORPHA:117
HP:0001098	Abnormal fundus morphology	1230	CCR1	ORPHA:117
HP:0001098	Abnormal fundus morphology	355	FAS	ORPHA:117
HP:0001098	Abnormal fundus morphology	3592	IL12A	ORPHA:117
HP:0001098	Abnormal fundus morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001098	Abnormal fundus morphology	7099	TLR4	ORPHA:117
HP:0001098	Abnormal fundus morphology	3459	IFNGR1	ORPHA:117
HP:0001098	Abnormal fundus morphology	720	C4A	ORPHA:117
HP:0001098	Abnormal fundus morphology	337867	UBAC2	ORPHA:117
HP:0001098	Abnormal fundus morphology	51752	ERAP1	ORPHA:117
HP:0001098	Abnormal fundus morphology	8302	KLRC4	ORPHA:117
HP:0001098	Abnormal fundus morphology	9692	PRORP	OMIM:619737
HP:0001098	Abnormal fundus morphology	6091	ROBO1	ORPHA:95496
HP:0001098	Abnormal fundus morphology	50937	CDON	ORPHA:95496
HP:0001098	Abnormal fundus morphology	23432	GPR161	ORPHA:95496
HP:0001098	Abnormal fundus morphology	9578	CDC42BPB	OMIM:619841
HP:0001098	Abnormal fundus morphology	170692	ADAMTS18	OMIM:615458
HP:0001098	Abnormal fundus morphology	1804	DPP6	OMIM:616311
HP:0001098	Abnormal fundus morphology	6935	ZEB1	ORPHA:98973
HP:0001098	Abnormal fundus morphology	30813	VSX1	ORPHA:98973
HP:0001098	Abnormal fundus morphology	58495	OVOL2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	79977	GRHL2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	1296	COL8A2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	55901	THSD1	OMIM:620244
HP:0001098	Abnormal fundus morphology	126792	B3GALT6	ORPHA:536467
HP:0001098	Abnormal fundus morphology	4327	MMP19	OMIM:611543
HP:0001099	Fundus atrophy	3000	GUCY2D	OMIM:204000
HP:0001099	Fundus atrophy	6121	RPE65	OMIM:204100
HP:0001099	Fundus atrophy	388939	PCARE	OMIM:613428
HP:0001099	Fundus atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001099	Fundus atrophy	6102	RP2	OMIM:312600
HP:0003072	Hypercalcemia	3939	LDHA	ORPHA:284426
HP:0003072	Hypercalcemia	595	CCND1	ORPHA:29073
HP:0003072	Hypercalcemia	51604	PIGT	ORPHA:369837
HP:0003072	Hypercalcemia	6569	SLC34A1	OMIM:616963
HP:0003072	Hypercalcemia	55654	TMEM127	OMIM:171300
HP:0003072	Hypercalcemia	55654	TMEM127	ORPHA:29072
HP:0003072	Hypercalcemia	5979	RET	OMIM:171300
HP:0003072	Hypercalcemia	5979	RET	ORPHA:29072
HP:0003072	Hypercalcemia	5979	RET	ORPHA:276621
HP:0003072	Hypercalcemia	6390	SDHB	OMIM:171300
HP:0003072	Hypercalcemia	6390	SDHB	ORPHA:29072
HP:0003072	Hypercalcemia	6390	SDHB	ORPHA:276621
HP:0003072	Hypercalcemia	6392	SDHD	OMIM:171300
HP:0003072	Hypercalcemia	6392	SDHD	ORPHA:29072
HP:0003072	Hypercalcemia	6392	SDHD	ORPHA:276621
HP:0003072	Hypercalcemia	4149	MAX	OMIM:171300
HP:0003072	Hypercalcemia	4149	MAX	ORPHA:29072
HP:0003072	Hypercalcemia	7428	VHL	OMIM:171300
HP:0003072	Hypercalcemia	7428	VHL	ORPHA:29072
HP:0003072	Hypercalcemia	7428	VHL	ORPHA:276621
HP:0003072	Hypercalcemia	1743	DLST	ORPHA:29072
HP:0003072	Hypercalcemia	4191	MDH2	ORPHA:29072
HP:0003072	Hypercalcemia	6389	SDHA	ORPHA:29072
HP:0003072	Hypercalcemia	23095	KIF1B	ORPHA:29072
HP:0003072	Hypercalcemia	2271	FH	ORPHA:29072
HP:0003072	Hypercalcemia	8402	SLC25A11	ORPHA:29072
HP:0003072	Hypercalcemia	54949	SDHAF2	ORPHA:29072
HP:0003072	Hypercalcemia	4763	NF1	ORPHA:29072
HP:0003072	Hypercalcemia	6391	SDHC	ORPHA:29072
HP:0003072	Hypercalcemia	6804	STX1A	ORPHA:904
HP:0003072	Hypercalcemia	7461	CLIP2	ORPHA:904
HP:0003072	Hypercalcemia	84277	DNAJC30	ORPHA:904
HP:0003072	Hypercalcemia	8468	FKBP6	ORPHA:904
HP:0003072	Hypercalcemia	5982	RFC2	ORPHA:904
HP:0003072	Hypercalcemia	2969	GTF2I	ORPHA:904
HP:0003072	Hypercalcemia	3984	LIMK1	ORPHA:904
HP:0003072	Hypercalcemia	9569	GTF2IRD1	ORPHA:904
HP:0003072	Hypercalcemia	155382	VPS37D	ORPHA:904
HP:0003072	Hypercalcemia	155368	METTL27	ORPHA:904
HP:0003072	Hypercalcemia	114049	BUD23	ORPHA:904
HP:0003072	Hypercalcemia	7458	EIF4H	ORPHA:904
HP:0003072	Hypercalcemia	84163	GTF2IRD2	ORPHA:904
HP:0003072	Hypercalcemia	9275	BCL7B	ORPHA:904
HP:0003072	Hypercalcemia	26608	TBL2	ORPHA:904
HP:0003072	Hypercalcemia	653361	NCF1	ORPHA:904
HP:0003072	Hypercalcemia	135886	TMEM270	ORPHA:904
HP:0003072	Hypercalcemia	51085	MLXIPL	ORPHA:904
HP:0003072	Hypercalcemia	51085	MLXIPL	OMIM:194050
HP:0003072	Hypercalcemia	9031	BAZ1B	ORPHA:904
HP:0003072	Hypercalcemia	2006	ELN	ORPHA:904
HP:0003072	Hypercalcemia	2006	ELN	OMIM:194050
HP:0003072	Hypercalcemia	64324	NSD1	ORPHA:821
HP:0003072	Hypercalcemia	29072	SETD2	ORPHA:821
HP:0003072	Hypercalcemia	10297	APC2	ORPHA:821
HP:0003072	Hypercalcemia	79577	CDC73	ORPHA:143
HP:0003072	Hypercalcemia	79577	CDC73	OMIM:145000
HP:0003072	Hypercalcemia	79577	CDC73	OMIM:145001
HP:0003072	Hypercalcemia	79577	CDC73	ORPHA:99880
HP:0003072	Hypercalcemia	79577	CDC73	ORPHA:99879
HP:0003072	Hypercalcemia	79577	CDC73	OMIM:608266
HP:0003072	Hypercalcemia	249	ALPL	OMIM:241500
HP:0003072	Hypercalcemia	7204	TRIO	ORPHA:476126
HP:0003072	Hypercalcemia	9247	GCM2	OMIM:617343
HP:0003072	Hypercalcemia	9247	GCM2	ORPHA:99879
HP:0003072	Hypercalcemia	6523	SLC5A1	ORPHA:35710
HP:0003072	Hypercalcemia	4221	MEN1	ORPHA:652
HP:0003072	Hypercalcemia	4221	MEN1	OMIM:131100
HP:0003072	Hypercalcemia	4221	MEN1	ORPHA:99879
HP:0003072	Hypercalcemia	1027	CDKN1B	ORPHA:652
HP:0003072	Hypercalcemia	1027	CDKN1B	ORPHA:276152
HP:0003072	Hypercalcemia	1026	CDKN1A	ORPHA:652
HP:0003072	Hypercalcemia	1030	CDKN2B	ORPHA:652
HP:0003072	Hypercalcemia	1031	CDKN2C	ORPHA:652
HP:0003072	Hypercalcemia	4854	NOTCH3	ORPHA:2591
HP:0003072	Hypercalcemia	5159	PDGFRB	ORPHA:2591
HP:0003072	Hypercalcemia	5745	PTH1R	OMIM:156400
HP:0003072	Hypercalcemia	9365	KL	OMIM:617994
HP:0003072	Hypercalcemia	5286	PIK3C2A	OMIM:618440
HP:0003072	Hypercalcemia	5286	PIK3C2A	ORPHA:557003
HP:0003072	Hypercalcemia	2591	GALNT3	OMIM:211900
HP:0003072	Hypercalcemia	1788	DNMT3A	ORPHA:276621
HP:0003072	Hypercalcemia	2034	EPAS1	ORPHA:276621
HP:0003072	Hypercalcemia	6557	SLC12A1	OMIM:601678
HP:0003072	Hypercalcemia	1175	AP2S1	OMIM:600740
HP:0003072	Hypercalcemia	846	CASR	OMIM:145980
HP:0003072	Hypercalcemia	846	CASR	OMIM:239200
HP:0003072	Hypercalcemia	2767	GNA11	OMIM:145981
HP:0003072	Hypercalcemia	1591	CYP24A1	OMIM:143880
HP:0003072	Hypercalcemia	8792	TNFRSF11A	OMIM:602080
HP:0003072	Hypercalcemia	1028	CDKN1C	OMIM:614732
HP:0003072	Hypercalcemia	56244	BTNL2	ORPHA:797
HP:0003072	Hypercalcemia	3123	HLA-DRB1	ORPHA:797
HP:0001953	Diabetic ketoacidosis	3767	KCNJ11	ORPHA:552
HP:0001953	Diabetic ketoacidosis	3767	KCNJ11	ORPHA:99886
HP:0001953	Diabetic ketoacidosis	8462	KLF11	ORPHA:552
HP:0001953	Diabetic ketoacidosis	2645	GCK	ORPHA:552
HP:0001953	Diabetic ketoacidosis	26060	APPL1	ORPHA:552
HP:0001953	Diabetic ketoacidosis	640	BLK	ORPHA:552
HP:0001953	Diabetic ketoacidosis	1056	CEL	ORPHA:552
HP:0001953	Diabetic ketoacidosis	4760	NEUROD1	ORPHA:552
HP:0001953	Diabetic ketoacidosis	3651	PDX1	ORPHA:552
HP:0001953	Diabetic ketoacidosis	6833	ABCC8	ORPHA:552
HP:0001953	Diabetic ketoacidosis	6833	ABCC8	ORPHA:99886
HP:0001953	Diabetic ketoacidosis	5078	PAX4	ORPHA:552
HP:0001953	Diabetic ketoacidosis	3172	HNF4A	ORPHA:552
HP:0001953	Diabetic ketoacidosis	6927	HNF1A	ORPHA:552
HP:0001953	Diabetic ketoacidosis	3630	INS	ORPHA:552
HP:0001953	Diabetic ketoacidosis	3630	INS	OMIM:618858
HP:0001953	Diabetic ketoacidosis	3630	INS	OMIM:613370
HP:0001953	Diabetic ketoacidosis	3643	INSR	OMIM:262190
HP:0001953	Diabetic ketoacidosis	3643	INSR	ORPHA:769
HP:0001953	Diabetic ketoacidosis	63924	CIDEC	OMIM:615238
HP:0001953	Diabetic ketoacidosis	1188	CLCNKB	ORPHA:358
HP:0001953	Diabetic ketoacidosis	6559	SLC12A3	ORPHA:358
HP:0001953	Diabetic ketoacidosis	346171	ZFP57	ORPHA:99886
HP:0001953	Diabetic ketoacidosis	57061	HYMAI	ORPHA:99886
HP:0001953	Diabetic ketoacidosis	5325	PLAGL1	ORPHA:99886
HP:0008255	Transient neonatal diabetes mellitus	3767	KCNJ11	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	3767	KCNJ11	OMIM:610582
HP:0008255	Transient neonatal diabetes mellitus	3767	KCNJ11	ORPHA:99886
HP:0008255	Transient neonatal diabetes mellitus	8462	KLF11	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	2645	GCK	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	26060	APPL1	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	640	BLK	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	1056	CEL	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	4760	NEUROD1	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	3651	PDX1	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	6833	ABCC8	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0008255	Transient neonatal diabetes mellitus	6833	ABCC8	ORPHA:99886
HP:0008255	Transient neonatal diabetes mellitus	5078	PAX4	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	3172	HNF4A	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	6927	HNF1A	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	3630	INS	ORPHA:552
HP:0008255	Transient neonatal diabetes mellitus	57061	HYMAI	OMIM:601410
HP:0008255	Transient neonatal diabetes mellitus	57061	HYMAI	ORPHA:99886
HP:0008255	Transient neonatal diabetes mellitus	346171	ZFP57	OMIM:601410
HP:0008255	Transient neonatal diabetes mellitus	346171	ZFP57	ORPHA:99886
HP:0008255	Transient neonatal diabetes mellitus	5325	PLAGL1	ORPHA:99886
HP:0008259	Adrenocorticotropin receptor defect	8086	AAAS	OMIM:231550
HP:0008258	Congenital adrenal hyperplasia	6770	STAR	OMIM:201710
HP:0008258	Congenital adrenal hyperplasia	3284	HSD3B2	ORPHA:90791
HP:0008258	Congenital adrenal hyperplasia	1586	CYP17A1	ORPHA:90793
HP:0008258	Congenital adrenal hyperplasia	1584	CYP11B1	OMIM:202010
HP:0008258	Congenital adrenal hyperplasia	5447	POR	OMIM:613571
HP:0034116	Anti-thyrotropin receptor antibody	7068	THRB	OMIM:274300
HP:0008261	Pancreatic islet cell adenoma	389692	MAFA	OMIM:147630
HP:0008261	Pancreatic islet cell adenoma	3767	KCNJ11	ORPHA:79644
HP:0008261	Pancreatic islet cell adenoma	7428	VHL	ORPHA:892
HP:0008261	Pancreatic islet cell adenoma	595	CCND1	ORPHA:892
HP:0008261	Pancreatic islet cell adenoma	4221	MEN1	OMIM:131100
HP:0008261	Pancreatic islet cell adenoma	1027	CDKN1B	ORPHA:652
HP:0008261	Pancreatic islet cell adenoma	1027	CDKN1B	ORPHA:276152
HP:0008261	Pancreatic islet cell adenoma	1026	CDKN1A	ORPHA:652
HP:0008261	Pancreatic islet cell adenoma	1030	CDKN2B	ORPHA:652
HP:0008261	Pancreatic islet cell adenoma	1031	CDKN2C	ORPHA:652
HP:0008264	Neutrophil inclusion bodies	4627	MYH9	OMIM:155100
HP:0008263	Thyroid defect in oxidation and organification of iodide	405753	DUOXA2	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	6528	SLC5A5	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	7038	TG	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	7173	TPO	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	7173	TPO	OMIM:274500
HP:0008263	Thyroid defect in oxidation and organification of iodide	389434	IYD	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	50506	DUOX2	ORPHA:95716
HP:0008263	Thyroid defect in oxidation and organification of iodide	50506	DUOX2	ORPHA:226316
HP:0010639	Elevated alkaline phosphatase of bone origin	4883	NPR3	OMIM:619543
HP:0010639	Elevated alkaline phosphatase of bone origin	142680	SLC34A3	ORPHA:157215
HP:0010639	Elevated alkaline phosphatase of bone origin	6569	SLC34A1	ORPHA:157215
HP:0010639	Elevated alkaline phosphatase of bone origin	1758	DMP1	ORPHA:289176
HP:0010639	Elevated alkaline phosphatase of bone origin	5167	ENPP1	ORPHA:289176
HP:0010639	Elevated alkaline phosphatase of bone origin	5167	ENPP1	ORPHA:51608
HP:0010639	Elevated alkaline phosphatase of bone origin	368	ABCC6	ORPHA:51608
HP:0010639	Elevated alkaline phosphatase of bone origin	1594	CYP27B1	ORPHA:289157
HP:0010639	Elevated alkaline phosphatase of bone origin	120227	CYP2R1	ORPHA:289157
HP:0010639	Elevated alkaline phosphatase of bone origin	2099	ESR1	OMIM:615363
HP:0010639	Elevated alkaline phosphatase of bone origin	4882	NPR2	OMIM:615923
HP:0010639	Elevated alkaline phosphatase of bone origin	1497	CTNS	ORPHA:411634
HP:0010639	Elevated alkaline phosphatase of bone origin	7415	VCP	OMIM:167320
HP:0010639	Elevated alkaline phosphatase of bone origin	84317	CCDC115	OMIM:616828
HP:0008269	Increased red cell hemolysis by shear stress	9780	PIEZO1	OMIM:194380
HP:4000094	Corpus cavernosum hypoplasia	2626	GATA4	OMIM:615542
HP:4000095	Elevated circulating thymine concentration	1807	DPYS	OMIM:222748
HP:4000093	Ectopic tooth eruption	63916	ELMO2	OMIM:606893
HP:4000090	Abnormal gesture use	57680	CHD8	OMIM:615032
HP:0008271	Abnormal cartilage collagen	1280	COL2A1	ORPHA:485
HP:0008271	Abnormal cartilage collagen	1280	COL2A1	OMIM:156550
HP:0008273	Transient aminoaciduria	229	ALDOB	OMIM:229600
HP:0008275	Abnormal light-adapted electroretinogram	611	OPN1SW	OMIM:190900
HP:0008275	Abnormal light-adapted electroretinogram	22926	ATF6	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	5146	PDE6C	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	5146	PDE6C	OMIM:613093
HP:0008275	Abnormal light-adapted electroretinogram	6103	RPGR	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	5149	PDE6H	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	2780	GNAT2	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	1261	CNGA3	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	1261	CNGA3	OMIM:216900
HP:0008275	Abnormal light-adapted electroretinogram	54714	CNGB3	ORPHA:49382
HP:0008275	Abnormal light-adapted electroretinogram	9371	KIF3B	OMIM:618955
HP:0008275	Abnormal light-adapted electroretinogram	5193	PEX12	OMIM:266510
HP:0008275	Abnormal light-adapted electroretinogram	778	CACNA1F	OMIM:300071
HP:0004921	Abnormal magnesium concentration	140803	TRPM6	OMIM:602014
HP:0004921	Abnormal magnesium concentration	83483	PLVAP	OMIM:618183
HP:0004921	Abnormal magnesium concentration	1497	CTNS	OMIM:219800
HP:0004921	Abnormal magnesium concentration	7809	BSND	ORPHA:89938
HP:0004921	Abnormal magnesium concentration	1188	CLCNKB	ORPHA:89938
HP:0004921	Abnormal magnesium concentration	1188	CLCNKB	ORPHA:358
HP:0004921	Abnormal magnesium concentration	1187	CLCNKA	ORPHA:89938
HP:0004921	Abnormal magnesium concentration	486	FXYD2	OMIM:154020
HP:0004921	Abnormal magnesium concentration	6905	TBCE	OMIM:244460
HP:0004921	Abnormal magnesium concentration	1621	DBH	OMIM:223360
HP:0004921	Abnormal magnesium concentration	3766	KCNJ10	OMIM:612780
HP:0004921	Abnormal magnesium concentration	3766	KCNJ10	ORPHA:199343
HP:0004921	Abnormal magnesium concentration	476	ATP1A1	ORPHA:564178
HP:0004921	Abnormal magnesium concentration	476	ATP1A1	OMIM:618314
HP:0004921	Abnormal magnesium concentration	50943	FOXP3	ORPHA:37042
HP:0004921	Abnormal magnesium concentration	2767	GNA11	ORPHA:428
HP:0004921	Abnormal magnesium concentration	846	CASR	ORPHA:428
HP:0004921	Abnormal magnesium concentration	846	CASR	OMIM:601198
HP:0004921	Abnormal magnesium concentration	100134444	KCNJ18	ORPHA:79102
HP:0004921	Abnormal magnesium concentration	2556	GABRA3	ORPHA:79102
HP:0004921	Abnormal magnesium concentration	779	CACNA1S	ORPHA:79102
HP:0004921	Abnormal magnesium concentration	1950	EGF	OMIM:611718
HP:0004921	Abnormal magnesium concentration	9247	GCM2	ORPHA:2239
HP:0004921	Abnormal magnesium concentration	6557	SLC12A1	OMIM:601678
HP:0004921	Abnormal magnesium concentration	5442	POLRMT	OMIM:619743
HP:0004921	Abnormal magnesium concentration	3758	KCNJ1	OMIM:241200
HP:0004921	Abnormal magnesium concentration	54805	CNNM2	OMIM:613882
HP:0004921	Abnormal magnesium concentration	54805	CNNM2	OMIM:616418
HP:0004921	Abnormal magnesium concentration	149461	CLDN19	OMIM:248190
HP:0004921	Abnormal magnesium concentration	10686	CLDN16	OMIM:248250
HP:0004921	Abnormal magnesium concentration	6559	SLC12A3	OMIM:263800
HP:0004921	Abnormal magnesium concentration	6559	SLC12A3	ORPHA:358
HP:0004921	Abnormal magnesium concentration	2783	GNB2	OMIM:619503
HP:0004921	Abnormal magnesium concentration	54938	SARS2	OMIM:613845
HP:0004921	Abnormal magnesium concentration	7074	TIAM1	OMIM:619908
HP:0004921	Abnormal magnesium concentration	5092	PCBD1	ORPHA:1578
HP:0004921	Abnormal magnesium concentration	58528	RRAGD	OMIM:620152
HP:0004921	Abnormal magnesium concentration	1175	AP2S1	OMIM:600740
HP:0004921	Abnormal magnesium concentration	9071	CLDN10	OMIM:617671
HP:0004921	Abnormal magnesium concentration	229	ALDOB	ORPHA:469
HP:0008277	Abnormal blood zinc concentration	64116	SLC39A8	ORPHA:468699
HP:0008277	Abnormal blood zinc concentration	9056	SLC7A7	ORPHA:470
HP:0008277	Abnormal blood zinc concentration	4312	MMP1	ORPHA:79408
HP:0008277	Abnormal blood zinc concentration	1294	COL7A1	ORPHA:79408
HP:0008277	Abnormal blood zinc concentration	1294	COL7A1	ORPHA:89842
HP:0008277	Abnormal blood zinc concentration	3376	IARS1	ORPHA:541423
HP:0008277	Abnormal blood zinc concentration	3376	IARS1	OMIM:617093
HP:0008277	Abnormal blood zinc concentration	7780	SLC30A2	OMIM:608118
HP:0008277	Abnormal blood zinc concentration	55630	SLC39A4	OMIM:201100
HP:0008279	Transient hyperlipidemia	1374	CPT1A	ORPHA:156
HP:0008279	Transient hyperlipidemia	1374	CPT1A	OMIM:255120
HP:0008278	Cerebellar cortical atrophy	64374	SIL1	OMIM:248800
HP:0008278	Cerebellar cortical atrophy	9373	PLAA	ORPHA:521426
HP:0008278	Cerebellar cortical atrophy	6309	SC5D	ORPHA:46059
HP:0008278	Cerebellar cortical atrophy	56652	TWNK	OMIM:271245
HP:0008278	Cerebellar cortical atrophy	8882	ZPR1	OMIM:619321
HP:0008278	Cerebellar cortical atrophy	85358	SHANK3	ORPHA:48652
HP:4000081	Reduced production of gestures	57680	CHD8	OMIM:615032
HP:4000079	Sensory seeking	4137	MAPT	OMIM:600274
HP:4000079	Sensory seeking	4137	MAPT	ORPHA:275864
HP:4000079	Sensory seeking	4137	MAPT	OMIM:172700
HP:4000079	Sensory seeking	5663	PSEN1	OMIM:600274
HP:4000079	Sensory seeking	5663	PSEN1	ORPHA:275864
HP:4000079	Sensory seeking	5663	PSEN1	OMIM:172700
HP:4000079	Sensory seeking	25978	CHMP2B	ORPHA:275864
HP:4000079	Sensory seeking	25978	CHMP2B	OMIM:600795
HP:4000079	Sensory seeking	2896	GRN	ORPHA:275864
HP:4000079	Sensory seeking	2896	GRN	OMIM:607485
HP:4000079	Sensory seeking	54664	TMEM106B	ORPHA:275864
HP:4000079	Sensory seeking	8878	SQSTM1	ORPHA:275864
HP:4000079	Sensory seeking	54209	TREM2	ORPHA:275864
HP:4000079	Sensory seeking	7415	VCP	ORPHA:275864
HP:4000079	Sensory seeking	5621	PRNP	OMIM:606688
HP:4000079	Sensory seeking	6638	SNRPN	ORPHA:411515
HP:4000079	Sensory seeking	7337	UBE3A	ORPHA:411515
HP:4000079	Sensory seeking	57194	ATP10A	ORPHA:411515
HP:4000079	Sensory seeking	85358	SHANK3	OMIM:606232
HP:4000079	Sensory seeking	54675	CRLS1	OMIM:620167
HP:4000079	Sensory seeking	1639	DCTN1	OMIM:168605
HP:4000079	Sensory seeking	3000	GUCY2D	OMIM:204000
HP:4000079	Sensory seeking	6121	RPE65	OMIM:204100
HP:4000079	Sensory seeking	7287	TULP1	OMIM:613843
HP:4000079	Sensory seeking	23418	CRB1	OMIM:613835
HP:4000079	Sensory seeking	64802	NMNAT1	OMIM:608553
HP:4000079	Sensory seeking	10743	RAI1	OMIM:182290
HP:4000079	Sensory seeking	5575	PRKAR1B	OMIM:619680
HP:4000076	Use of another person's body to communicate	51111	KMT5B	OMIM:617788
HP:4000072	Abnormal language feature	5339	PLEC	ORPHA:257
HP:4000072	Abnormal language feature	1540	CYLD	OMIM:619132
HP:4000072	Abnormal language feature	57680	CHD8	OMIM:615032
HP:4000072	Abnormal language feature	4137	MAPT	OMIM:172700
HP:4000072	Abnormal language feature	4137	MAPT	ORPHA:275864
HP:4000072	Abnormal language feature	5663	PSEN1	OMIM:172700
HP:4000072	Abnormal language feature	5663	PSEN1	ORPHA:275864
HP:4000072	Abnormal language feature	6711	SPTBN1	OMIM:619475
HP:4000072	Abnormal language feature	23394	ADNP	OMIM:615873
HP:4000072	Abnormal language feature	162417	NAGS	ORPHA:927
HP:4000072	Abnormal language feature	10165	SLC25A13	ORPHA:247585
HP:4000072	Abnormal language feature	8924	HERC2	OMIM:615516
HP:4000072	Abnormal language feature	201163	FLCN	OMIM:610883
HP:4000072	Abnormal language feature	2260	FGFR1	ORPHA:2396
HP:4000072	Abnormal language feature	3845	KRAS	ORPHA:2396
HP:4000072	Abnormal language feature	3067	HDC	OMIM:137580
HP:4000072	Abnormal language feature	114798	SLITRK1	OMIM:137580
HP:4000072	Abnormal language feature	79813	EHMT1	ORPHA:96147
HP:4000072	Abnormal language feature	9719	ADAMTSL2	ORPHA:1901
HP:4000072	Abnormal language feature	9509	ADAMTS2	ORPHA:1901
HP:4000072	Abnormal language feature	118987	PDZD8	OMIM:620021
HP:4000072	Abnormal language feature	10159	ATP6AP2	ORPHA:93952
HP:4000072	Abnormal language feature	6925	TCF4	ORPHA:2896
HP:4000072	Abnormal language feature	71	ACTG1	ORPHA:2995
HP:4000072	Abnormal language feature	60	ACTB	ORPHA:2995
HP:4000072	Abnormal language feature	54539	NDUFB11	ORPHA:2556
HP:4000072	Abnormal language feature	1349	COX7B	ORPHA:2556
HP:4000072	Abnormal language feature	3052	HCCS	ORPHA:2556
HP:4000072	Abnormal language feature	55343	SLC35C1	OMIM:266265
HP:4000072	Abnormal language feature	22827	PUF60	ORPHA:508488
HP:4000072	Abnormal language feature	2898	GRIK2	OMIM:619580
HP:4000072	Abnormal language feature	6595	SMARCA2	ORPHA:3051
HP:4000072	Abnormal language feature	7319	UBE2A	OMIM:300860
HP:4000072	Abnormal language feature	7319	UBE2A	ORPHA:163956
HP:4000072	Abnormal language feature	6616	SNAP25	OMIM:616330
HP:4000072	Abnormal language feature	25978	CHMP2B	ORPHA:275864
HP:4000072	Abnormal language feature	2896	GRN	ORPHA:275864
HP:4000072	Abnormal language feature	54664	TMEM106B	ORPHA:275864
HP:4000072	Abnormal language feature	8878	SQSTM1	ORPHA:275864
HP:4000072	Abnormal language feature	54209	TREM2	ORPHA:275864
HP:4000072	Abnormal language feature	7415	VCP	ORPHA:275864
HP:4000072	Abnormal language feature	139285	AMER1	ORPHA:2780
HP:4000072	Abnormal language feature	150468	CKAP2L	ORPHA:3255
HP:4000072	Abnormal language feature	10743	RAI1	ORPHA:1713
HP:4000072	Abnormal language feature	1278	COL1A2	ORPHA:1899
HP:4000072	Abnormal language feature	1277	COL1A1	ORPHA:1899
HP:4000072	Abnormal language feature	9213	XPR1	OMIM:616413
HP:4000072	Abnormal language feature	80025	PANK2	OMIM:234200
HP:0007688	Undetectable light- and dark-adapted electroretinogram	10002	NR2E3	OMIM:611131
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6121	RPE65	OMIM:204100
HP:0007688	Undetectable light- and dark-adapted electroretinogram	375298	CERKL	OMIM:608380
HP:0007688	Undetectable light- and dark-adapted electroretinogram	57096	RPGRIP1	OMIM:608194
HP:0007688	Undetectable light- and dark-adapted electroretinogram	7401	CLRN1	OMIM:614180
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6101	RP1	OMIM:180100
HP:0007688	Undetectable light- and dark-adapted electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	23636	NUP62	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	103	ADAR	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6100	RP9	OMIM:180104
HP:0007688	Undetectable light- and dark-adapted electroretinogram	5130	PCYT1A	ORPHA:85167
HP:0007688	Undetectable light- and dark-adapted electroretinogram	23746	AIPL1	OMIM:604393
HP:0007688	Undetectable light- and dark-adapted electroretinogram	3614	IMPDH1	OMIM:180105
HP:0008282	Unconjugated hyperbilirubinemia	5313	PKLR	OMIM:266200
HP:0008282	Unconjugated hyperbilirubinemia	5313	PKLR	ORPHA:766
HP:0008282	Unconjugated hyperbilirubinemia	3043	HBB	ORPHA:232
HP:0008282	Unconjugated hyperbilirubinemia	54658	UGT1A1	OMIM:218800
HP:0008282	Unconjugated hyperbilirubinemia	54658	UGT1A1	OMIM:606785
HP:0008282	Unconjugated hyperbilirubinemia	54658	UGT1A1	ORPHA:79234
HP:0008282	Unconjugated hyperbilirubinemia	54658	UGT1A1	ORPHA:79235
HP:0008282	Unconjugated hyperbilirubinemia	54658	UGT1A1	OMIM:143500
HP:0008282	Unconjugated hyperbilirubinemia	55532	SLC30A10	OMIM:613280
HP:0008282	Unconjugated hyperbilirubinemia	6554	SLC10A1	OMIM:619256
HP:0008282	Unconjugated hyperbilirubinemia	374354	NHLRC2	OMIM:618278
HP:0008282	Unconjugated hyperbilirubinemia	10661	KLF1	OMIM:613673
HP:0008282	Unconjugated hyperbilirubinemia	8573	CASK	OMIM:300908
HP:0008282	Unconjugated hyperbilirubinemia	2539	G6PD	OMIM:300908
HP:0008282	Unconjugated hyperbilirubinemia	6005	RHAG	OMIM:268150
HP:0008282	Unconjugated hyperbilirubinemia	10056	FARSB	OMIM:613658
HP:0008282	Unconjugated hyperbilirubinemia	7390	UROS	ORPHA:79277
HP:0008282	Unconjugated hyperbilirubinemia	2623	GATA1	ORPHA:79277
HP:0008282	Unconjugated hyperbilirubinemia	8085	KMT2D	OMIM:620186
HP:0008282	Unconjugated hyperbilirubinemia	5277	PIGA	ORPHA:447
HP:0008281	Acute hyperammonemia	162417	NAGS	ORPHA:927
HP:0008281	Acute hyperammonemia	10165	SLC25A13	ORPHA:247585
HP:0008281	Acute hyperammonemia	56922	MCCC1	OMIM:210200
HP:0008281	Acute hyperammonemia	64087	MCCC2	OMIM:210210
HP:0008283	Fasting hyperinsulinemia	2746	GLUD1	ORPHA:35878
HP:0008283	Fasting hyperinsulinemia	3643	INSR	ORPHA:263458
HP:0008283	Fasting hyperinsulinemia	3643	INSR	OMIM:609968
HP:0008283	Fasting hyperinsulinemia	3643	INSR	ORPHA:769
HP:0008283	Fasting hyperinsulinemia	3033	HADH	ORPHA:71212
HP:0008283	Fasting hyperinsulinemia	4000	LMNA	ORPHA:79474
HP:0008283	Fasting hyperinsulinemia	4221	MEN1	ORPHA:97279
HP:0008283	Fasting hyperinsulinemia	7528	YY1	ORPHA:97279
HP:0008283	Fasting hyperinsulinemia	60676	PAPPA2	OMIM:619489
HP:0008283	Fasting hyperinsulinemia	2645	GCK	ORPHA:79299
HP:0008283	Fasting hyperinsulinemia	1027	CDKN1B	ORPHA:276152
HP:0008285	Transient hypophosphatemia	63901	FAM111A	OMIM:127000
HP:0008285	Transient hypophosphatemia	100134444	KCNJ18	ORPHA:79102
HP:0008285	Transient hypophosphatemia	2556	GABRA3	ORPHA:79102
HP:0008285	Transient hypophosphatemia	779	CACNA1S	ORPHA:79102
HP:0008288	Nonketotic hyperglycinemia	3664	IRF6	ORPHA:1300
HP:0008288	Nonketotic hyperglycinemia	51218	GLRX5	ORPHA:401866
HP:0008288	Nonketotic hyperglycinemia	132158	GLYCTK	ORPHA:941
HP:0008288	Nonketotic hyperglycinemia	132158	GLYCTK	OMIM:220120
HP:0003223	Decreased methylcobalamin	4552	MTRR	OMIM:236270
HP:0003223	Decreased methylcobalamin	55788	LMBRD1	OMIM:277380
HP:0003223	Decreased methylcobalamin	55788	LMBRD1	ORPHA:79284
HP:0003223	Decreased methylcobalamin	4522	MTHFD1	OMIM:617780
HP:0003223	Decreased methylcobalamin	5826	ABCD4	OMIM:614857
HP:0003223	Decreased methylcobalamin	4548	MTR	OMIM:250940
HP:0003223	Decreased methylcobalamin	27249	MMADHC	OMIM:277410
HP:0003223	Decreased methylcobalamin	25974	MMACHC	OMIM:277400
HP:0003223	Decreased methylcobalamin	5052	PRDX1	OMIM:277400
HP:4000073	Pronoun reversal	57680	CHD8	OMIM:615032
HP:4000070	Fixated interests	51111	KMT5B	OMIM:617788
HP:4000067	Iliac artery aneurysm	10526	IPO8	OMIM:619472
HP:4000066	Abnormal iliac artery morphology	4907	NT5E	OMIM:211800
HP:4000066	Abnormal iliac artery morphology	10526	IPO8	OMIM:619472
HP:4000061	Pancreatic alpha-cell hyperplasia	2642	GCGR	OMIM:619290
HP:4000060	Abnormal pulmonary alveolar system development	2294	FOXF1	OMIM:265380
HP:4000060	Abnormal pulmonary alveolar system development	64220	STRA6	OMIM:601186
HP:4000059	Abnormal lung development	137814	NKX2-6	ORPHA:3384
HP:4000059	Abnormal lung development	23129	PLXND1	ORPHA:3384
HP:4000059	Abnormal lung development	341640	FREM2	ORPHA:2052
HP:4000059	Abnormal lung development	80144	FRAS1	ORPHA:2052
HP:4000059	Abnormal lung development	80144	FRAS1	OMIM:219000
HP:4000059	Abnormal lung development	23426	GRIP1	ORPHA:2052
HP:4000059	Abnormal lung development	28981	IFT81	OMIM:617895
HP:4000059	Abnormal lung development	4750	NEK1	OMIM:263520
HP:4000059	Abnormal lung development	8425	LTBP4	OMIM:613177
HP:4000059	Abnormal lung development	23556	PIGN	ORPHA:2059
HP:4000059	Abnormal lung development	23556	PIGN	OMIM:614080
HP:4000059	Abnormal lung development	2733	GLE1	ORPHA:1486
HP:4000059	Abnormal lung development	2733	GLE1	OMIM:253310
HP:4000059	Abnormal lung development	79848	CSPP1	OMIM:615636
HP:4000059	Abnormal lung development	5396	PRRX1	OMIM:202650
HP:4000059	Abnormal lung development	8195	MKKS	OMIM:236700
HP:4000059	Abnormal lung development	8854	ALDH1A2	OMIM:620025
HP:4000059	Abnormal lung development	10992	SF3B2	OMIM:164210
HP:4000059	Abnormal lung development	64220	STRA6	OMIM:601186
HP:4000059	Abnormal lung development	64220	STRA6	ORPHA:2470
HP:4000059	Abnormal lung development	2629	GBA1	OMIM:608013
HP:4000059	Abnormal lung development	81839	VANGL1	ORPHA:3027
HP:4000059	Abnormal lung development	80199	FUZ	ORPHA:3027
HP:4000059	Abnormal lung development	183	AGT	OMIM:267430
HP:4000059	Abnormal lung development	5972	REN	OMIM:267430
HP:4000059	Abnormal lung development	185	AGTR1	OMIM:267430
HP:4000059	Abnormal lung development	1636	ACE	OMIM:267430
HP:4000059	Abnormal lung development	57539	WDR35	ORPHA:93271
HP:4000059	Abnormal lung development	57539	WDR35	OMIM:614091
HP:4000059	Abnormal lung development	91754	NEK9	OMIM:617022
HP:4000059	Abnormal lung development	58	ACTA1	ORPHA:171430
HP:4000059	Abnormal lung development	4703	NEB	ORPHA:171430
HP:4000059	Abnormal lung development	131377	KLHL40	ORPHA:171430
HP:4000059	Abnormal lung development	10324	KLHL41	ORPHA:171430
HP:4000059	Abnormal lung development	56203	LMOD3	ORPHA:171430
HP:4000059	Abnormal lung development	10229	COQ7	OMIM:616733
HP:4000059	Abnormal lung development	55784	MCTP2	ORPHA:1596
HP:4000059	Abnormal lung development	5915	RARB	OMIM:615524
HP:4000059	Abnormal lung development	5915	RARB	ORPHA:2470
HP:4000059	Abnormal lung development	1717	DHCR7	ORPHA:818
HP:4000059	Abnormal lung development	1717	DHCR7	OMIM:270400
HP:4000059	Abnormal lung development	5189	PEX1	OMIM:214100
HP:4000059	Abnormal lung development	2187	FANCB	ORPHA:3412
HP:4000059	Abnormal lung development	2187	FANCB	OMIM:314390
HP:4000059	Abnormal lung development	56975	FAM20C	OMIM:259775
HP:4000059	Abnormal lung development	1146	CHRNG	OMIM:265000
HP:4000059	Abnormal lung development	1146	CHRNG	ORPHA:2990
HP:4000059	Abnormal lung development	1146	CHRNG	OMIM:253290
HP:4000059	Abnormal lung development	51132	RLIM	OMIM:300978
HP:4000059	Abnormal lung development	8260	NAA10	OMIM:300855
HP:4000059	Abnormal lung development	8260	NAA10	OMIM:309800
HP:4000059	Abnormal lung development	50814	NSDHL	OMIM:308050
HP:4000059	Abnormal lung development	23522	KAT6B	OMIM:606170
HP:4000059	Abnormal lung development	23522	KAT6B	ORPHA:85201
HP:4000059	Abnormal lung development	6261	RYR1	OMIM:255320
HP:4000059	Abnormal lung development	51008	ASCC1	OMIM:616867
HP:4000059	Abnormal lung development	57211	ADGRG6	OMIM:616503
HP:4000059	Abnormal lung development	9325	TRIP4	OMIM:616866
HP:4000059	Abnormal lung development	284086	NEK8	OMIM:615415
HP:4000059	Abnormal lung development	3339	HSPG2	ORPHA:1865
HP:4000059	Abnormal lung development	3339	HSPG2	OMIM:224410
HP:4000059	Abnormal lung development	23414	ZFPM2	ORPHA:2140
HP:4000059	Abnormal lung development	9361	LONP1	ORPHA:2140
HP:4000059	Abnormal lung development	2627	GATA6	ORPHA:2140
HP:4000059	Abnormal lung development	5745	PTH1R	ORPHA:50945
HP:4000059	Abnormal lung development	3977	LIFR	OMIM:601559
HP:4000059	Abnormal lung development	79796	ALG9	OMIM:263210
HP:4000059	Abnormal lung development	79796	ALG9	ORPHA:79328
HP:4000059	Abnormal lung development	23384	SPECC1L	OMIM:145420
HP:4000059	Abnormal lung development	27130	INVS	OMIM:602088
HP:4000059	Abnormal lung development	26040	SETBP1	ORPHA:798
HP:4000059	Abnormal lung development	29980	DONSON	OMIM:251230
HP:4000059	Abnormal lung development	26227	PHGDH	OMIM:256520
HP:4000059	Abnormal lung development	2316	FLNA	ORPHA:90652
HP:4000059	Abnormal lung development	4927	NUP88	ORPHA:994
HP:4000059	Abnormal lung development	7846	TUBA1A	ORPHA:994
HP:4000059	Abnormal lung development	4654	MYOD1	ORPHA:994
HP:4000059	Abnormal lung development	4654	MYOD1	OMIM:618975
HP:4000059	Abnormal lung development	4593	MUSK	ORPHA:994
HP:4000059	Abnormal lung development	4593	MUSK	OMIM:208150
HP:4000059	Abnormal lung development	5913	RAPSN	ORPHA:994
HP:4000059	Abnormal lung development	6572	SLC18A3	ORPHA:994
HP:4000059	Abnormal lung development	285489	DOK7	ORPHA:994
HP:4000059	Abnormal lung development	1798	DPAGT1	ORPHA:86309
HP:4000059	Abnormal lung development	1280	COL2A1	OMIM:151210
HP:4000059	Abnormal lung development	1280	COL2A1	ORPHA:85166
HP:4000059	Abnormal lung development	1280	COL2A1	ORPHA:93296
HP:4000059	Abnormal lung development	54880	BCOR	OMIM:309800
HP:4000059	Abnormal lung development	4629	MYH11	OMIM:619351
HP:4000059	Abnormal lung development	5314	PKHD1	OMIM:263200
HP:4000059	Abnormal lung development	5314	PKHD1	ORPHA:731
HP:4000059	Abnormal lung development	57545	CC2D2A	OMIM:612284
HP:4000059	Abnormal lung development	29957	SLC25A24	OMIM:612289
HP:4000059	Abnormal lung development	6608	SMO	OMIM:241800
HP:4000059	Abnormal lung development	79770	TXNDC15	OMIM:619879
HP:4000059	Abnormal lung development	5979	RET	ORPHA:1848
HP:4000059	Abnormal lung development	8516	ITGA8	ORPHA:1848
HP:4000059	Abnormal lung development	8516	ITGA8	OMIM:191830
HP:4000059	Abnormal lung development	26281	FGF20	ORPHA:1848
HP:4000059	Abnormal lung development	26281	FGF20	OMIM:615721
HP:4000059	Abnormal lung development	2674	GFRA1	ORPHA:1848
HP:4000059	Abnormal lung development	2674	GFRA1	OMIM:619887
HP:4000059	Abnormal lung development	7484	WNT9B	ORPHA:1848
HP:4000059	Abnormal lung development	80000	GREB1L	ORPHA:1848
HP:4000059	Abnormal lung development	55165	CEP55	OMIM:236500
HP:4000059	Abnormal lung development	7547	ZIC3	OMIM:314390
HP:4000059	Abnormal lung development	4716	NDUFB10	OMIM:619003
HP:4000059	Abnormal lung development	8318	CDC45	OMIM:617063
HP:4000059	Abnormal lung development	5297	PI4KA	OMIM:616531
HP:4000059	Abnormal lung development	5297	PI4KA	OMIM:619708
HP:4000059	Abnormal lung development	27031	NPHP3	OMIM:208540
HP:4000059	Abnormal lung development	27031	NPHP3	ORPHA:3032
HP:4000059	Abnormal lung development	202018	TAPT1	OMIM:616897
HP:4000059	Abnormal lung development	163175	LGI4	OMIM:617468
HP:4000059	Abnormal lung development	9772	TMEM94	OMIM:618316
HP:4000059	Abnormal lung development	388015	RTL1	ORPHA:96334
HP:4000059	Abnormal lung development	8788	DLK1	ORPHA:96334
HP:4000059	Abnormal lung development	55384	MEG3	ORPHA:96334
HP:4000059	Abnormal lung development	199221	DZIP1L	ORPHA:731
HP:4000059	Abnormal lung development	8241	RBM10	ORPHA:2886
HP:4000059	Abnormal lung development	745	MYRF	OMIM:618280
HP:4000059	Abnormal lung development	3930	LBR	OMIM:215140
HP:4000059	Abnormal lung development	63895	PIEZO2	OMIM:248700
HP:4000059	Abnormal lung development	342035	GLDN	OMIM:617194
HP:4000059	Abnormal lung development	9786	KIAA0586	OMIM:616546
HP:4000059	Abnormal lung development	4000	LMNA	ORPHA:1662
HP:4000059	Abnormal lung development	10269	ZMPSTE24	ORPHA:1662
HP:4000059	Abnormal lung development	10269	ZMPSTE24	OMIM:275210
HP:4000059	Abnormal lung development	4621	MYH3	ORPHA:2990
HP:4000059	Abnormal lung development	10195	ALG3	ORPHA:79321
HP:4000059	Abnormal lung development	54361	WNT4	OMIM:611812
HP:4000059	Abnormal lung development	54361	WNT4	ORPHA:139466
HP:4000059	Abnormal lung development	26123	TCTN3	ORPHA:2753
HP:4000059	Abnormal lung development	57505	AARS2	OMIM:614096
HP:4000059	Abnormal lung development	54903	MKS1	OMIM:249000
HP:4000059	Abnormal lung development	1496	CTNNA2	OMIM:618174
HP:4000059	Abnormal lung development	27152	INTU	OMIM:617925
HP:4000059	Abnormal lung development	1144	CHRND	OMIM:253290
HP:4000059	Abnormal lung development	1134	CHRNA1	OMIM:253290
HP:4000059	Abnormal lung development	498	ATP5F1A	OMIM:615228
HP:4000059	Abnormal lung development	2108	ETFA	OMIM:231680
HP:4000059	Abnormal lung development	2109	ETFB	OMIM:231680
HP:4000059	Abnormal lung development	2110	ETFDH	OMIM:231680
HP:4000059	Abnormal lung development	168667	BMPER	OMIM:608022
HP:4000059	Abnormal lung development	2737	GLI3	ORPHA:672
HP:4000059	Abnormal lung development	2737	GLI3	OMIM:146510
HP:4000059	Abnormal lung development	2294	FOXF1	OMIM:265380
HP:4000059	Abnormal lung development	2657	GDF1	OMIM:208530
HP:4000059	Abnormal lung development	51604	PIGT	ORPHA:369837
HP:4000059	Abnormal lung development	1312	COMT	ORPHA:567
HP:4000059	Abnormal lung development	221037	JMJD1C	ORPHA:567
HP:4000059	Abnormal lung development	2812	GP1BB	ORPHA:567
HP:4000059	Abnormal lung development	6239	RREB1	ORPHA:567
HP:4000059	Abnormal lung development	7290	HIRA	ORPHA:567
HP:4000059	Abnormal lung development	9632	SEC24C	ORPHA:567
HP:4000059	Abnormal lung development	7353	UFD1	ORPHA:567
HP:4000059	Abnormal lung development	421	ARVCF	ORPHA:567
HP:4000059	Abnormal lung development	219844	HYLS1	OMIM:236680
HP:4000059	Abnormal lung development	5728	PTEN	ORPHA:744
HP:4000059	Abnormal lung development	207	AKT1	ORPHA:744
HP:4000059	Abnormal lung development	22827	PUF60	ORPHA:508488
HP:4000059	Abnormal lung development	9184	BUB3	ORPHA:1052
HP:4000059	Abnormal lung development	699	BUB1	ORPHA:1052
HP:4000059	Abnormal lung development	9702	CEP57	ORPHA:1052
HP:4000059	Abnormal lung development	9702	CEP57	OMIM:614114
HP:4000059	Abnormal lung development	9319	TRIP13	ORPHA:1052
HP:4000059	Abnormal lung development	701	BUB1B	ORPHA:1052
HP:4000059	Abnormal lung development	10436	EMG1	ORPHA:1270
HP:4000059	Abnormal lung development	2719	GPC3	OMIM:312870
HP:4000059	Abnormal lung development	2239	GPC4	OMIM:312870
HP:4000059	Abnormal lung development	9993	DGCR2	OMIM:192430
HP:4000059	Abnormal lung development	8220	ESS2	OMIM:192430
HP:4000059	Abnormal lung development	8214	DGCR6	OMIM:192430
HP:4000059	Abnormal lung development	54487	DGCR8	OMIM:192430
HP:4000059	Abnormal lung development	6899	TBX1	OMIM:192430
HP:4000059	Abnormal lung development	55112	DYNC2I1	ORPHA:474
HP:4000059	Abnormal lung development	26160	IFT172	ORPHA:474
HP:4000059	Abnormal lung development	153241	CEP120	ORPHA:474
HP:4000059	Abnormal lung development	57560	IFT80	ORPHA:474
HP:4000059	Abnormal lung development	51626	DYNC2LI1	ORPHA:474
HP:4000059	Abnormal lung development	51626	DYNC2LI1	ORPHA:289
HP:4000059	Abnormal lung development	79659	DYNC2H1	ORPHA:474
HP:4000059	Abnormal lung development	9742	IFT140	ORPHA:474
HP:4000059	Abnormal lung development	57728	WDR19	ORPHA:474
HP:4000059	Abnormal lung development	89891	DYNC2I2	ORPHA:474
HP:4000059	Abnormal lung development	79809	TTC21B	ORPHA:474
HP:4000059	Abnormal lung development	27238	GPKOW	ORPHA:2570
HP:4000059	Abnormal lung development	64840	PORCN	ORPHA:2092
HP:4000059	Abnormal lung development	59341	TRPV4	ORPHA:2635
HP:4000059	Abnormal lung development	2261	FGFR3	ORPHA:1860
HP:4000059	Abnormal lung development	2261	FGFR3	ORPHA:93274
HP:4000059	Abnormal lung development	2317	FLNB	ORPHA:1263
HP:4000059	Abnormal lung development	1836	SLC26A2	ORPHA:93298
HP:4000059	Abnormal lung development	9321	TRIP11	ORPHA:93299
HP:4000059	Abnormal lung development	1131	CHRM3	ORPHA:2970
HP:4000059	Abnormal lung development	7473	WNT3	ORPHA:3301
HP:4000059	Abnormal lung development	340419	RSPO2	ORPHA:3301
HP:4000059	Abnormal lung development	3239	HOXD13	ORPHA:887
HP:4000059	Abnormal lung development	5566	PRKACA	ORPHA:289
HP:4000059	Abnormal lung development	5567	PRKACB	ORPHA:289
HP:4000059	Abnormal lung development	2735	GLI1	ORPHA:289
HP:4000059	Abnormal lung development	2121	EVC	ORPHA:289
HP:4000059	Abnormal lung development	132884	EVC2	ORPHA:289
HP:4000059	Abnormal lung development	7490	WT1	ORPHA:3097
HP:4000059	Abnormal lung development	10815	CPLX1	ORPHA:280
HP:4000059	Abnormal lung development	54872	PIGG	ORPHA:280
HP:4000059	Abnormal lung development	7469	NELFA	ORPHA:280
HP:4000059	Abnormal lung development	1487	CTBP1	ORPHA:280
HP:4000059	Abnormal lung development	3954	LETM1	ORPHA:280
HP:4000059	Abnormal lung development	7468	NSD2	ORPHA:280
HP:4000059	Abnormal lung development	126792	B3GALT6	ORPHA:2725
HP:4000059	Abnormal lung development	25981	DNAH1	ORPHA:244
HP:4000059	Abnormal lung development	115948	ODAD3	ORPHA:244
HP:4000059	Abnormal lung development	54768	HYDIN	ORPHA:244
HP:4000059	Abnormal lung development	352909	DNAAF3	ORPHA:244
HP:4000059	Abnormal lung development	27148	STK36	ORPHA:244
HP:4000059	Abnormal lung development	51314	NME8	ORPHA:244
HP:4000059	Abnormal lung development	92749	DRC1	ORPHA:244
HP:4000059	Abnormal lung development	54970	TTC12	ORPHA:244
HP:4000059	Abnormal lung development	152110	NEK10	ORPHA:244
HP:4000059	Abnormal lung development	8481	OFD1	ORPHA:244
HP:4000059	Abnormal lung development	2302	FOXJ1	ORPHA:244
HP:4000059	Abnormal lung development	221421	RSPH9	ORPHA:244
HP:4000059	Abnormal lung development	85478	CCDC65	ORPHA:244
HP:4000059	Abnormal lung development	55036	CCDC40	ORPHA:244
HP:4000059	Abnormal lung development	51364	ZMYND10	ORPHA:244
HP:4000059	Abnormal lung development	64446	DNAI2	ORPHA:244
HP:4000059	Abnormal lung development	6674	SPAG1	ORPHA:244
HP:4000059	Abnormal lung development	83544	DNAL1	ORPHA:244
HP:4000059	Abnormal lung development	89765	RSPH1	ORPHA:244
HP:4000059	Abnormal lung development	83538	ODAD4	ORPHA:244
HP:4000059	Abnormal lung development	200373	CFAP221	ORPHA:244
HP:4000059	Abnormal lung development	374407	DNAJB13	ORPHA:244
HP:4000059	Abnormal lung development	55172	DNAAF2	ORPHA:244
HP:4000059	Abnormal lung development	161582	DNAAF4	ORPHA:244
HP:4000059	Abnormal lung development	2622	GAS8	ORPHA:244
HP:4000059	Abnormal lung development	23639	DNAAF11	ORPHA:244
HP:4000059	Abnormal lung development	27019	DNAI1	ORPHA:244
HP:4000059	Abnormal lung development	345895	RSPH4A	ORPHA:244
HP:4000059	Abnormal lung development	54919	DNAAF5	ORPHA:244
HP:4000059	Abnormal lung development	6103	RPGR	ORPHA:244
HP:4000059	Abnormal lung development	388389	CCDC103	ORPHA:244
HP:4000059	Abnormal lung development	93233	ODAD1	ORPHA:244
HP:4000059	Abnormal lung development	55130	ODAD2	ORPHA:244
HP:4000059	Abnormal lung development	1767	DNAH5	ORPHA:244
HP:4000059	Abnormal lung development	83861	RSPH3	ORPHA:244
HP:4000059	Abnormal lung development	345643	MCIDAS	ORPHA:244
HP:4000059	Abnormal lung development	56683	CFAP298	ORPHA:244
HP:4000059	Abnormal lung development	79925	SPEF2	ORPHA:244
HP:4000059	Abnormal lung development	10309	CCNO	ORPHA:244
HP:4000059	Abnormal lung development	115399	LRRC56	ORPHA:244
HP:4000059	Abnormal lung development	139212	DNAAF6	ORPHA:244
HP:4000059	Abnormal lung development	123872	DNAAF1	ORPHA:244
HP:4000059	Abnormal lung development	85016	CFAP300	ORPHA:244
HP:4000059	Abnormal lung development	339829	CCDC39	ORPHA:244
HP:4000059	Abnormal lung development	8701	DNAH11	ORPHA:244
HP:4000059	Abnormal lung development	1770	DNAH9	ORPHA:244
HP:4000059	Abnormal lung development	246176	GAS2L2	ORPHA:244
HP:4000059	Abnormal lung development	1147	CHUK	OMIM:613630
HP:4000059	Abnormal lung development	4838	NODAL	OMIM:270100
HP:4000059	Abnormal lung development	6651	SON	OMIM:617140
HP:4000059	Abnormal lung development	6651	SON	ORPHA:500150
HP:4000059	Abnormal lung development	4212	MEIS2	OMIM:600987
HP:4000059	Abnormal lung development	201163	FLCN	ORPHA:122
HP:4000059	Abnormal lung development	1523	CUX1	OMIM:618330
HP:0008291	Pituitary corticotropic cell adenoma	4221	MEN1	ORPHA:652
HP:0008291	Pituitary corticotropic cell adenoma	1027	CDKN1B	ORPHA:652
HP:0008291	Pituitary corticotropic cell adenoma	1027	CDKN1B	ORPHA:276152
HP:0008291	Pituitary corticotropic cell adenoma	1026	CDKN1A	ORPHA:652
HP:0008291	Pituitary corticotropic cell adenoma	1030	CDKN2B	ORPHA:652
HP:0008291	Pituitary corticotropic cell adenoma	1031	CDKN2C	ORPHA:652
HP:0008291	Pituitary corticotropic cell adenoma	84196	USP48	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	7157	TP53	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	9101	USP8	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	64072	CDH23	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	2908	NR3C1	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	673	BRAF	ORPHA:96253
HP:0008291	Pituitary corticotropic cell adenoma	546	ATRX	ORPHA:96253
HP:0008293	Long-chain dicarboxylic aciduria	1376	CPT2	OMIM:608836
HP:0000829	Hypoparathyroidism	3981	LIG4	ORPHA:235
HP:0000829	Hypoparathyroidism	54888	NSUN2	ORPHA:235
HP:0000829	Hypoparathyroidism	4558	MT-TF	ORPHA:550
HP:0000829	Hypoparathyroidism	4572	MT-TQ	ORPHA:550
HP:0000829	Hypoparathyroidism	4512	MT-CO1	ORPHA:550
HP:0000829	Hypoparathyroidism	4513	MT-CO2	ORPHA:550
HP:0000829	Hypoparathyroidism	4514	MT-CO3	ORPHA:550
HP:0000829	Hypoparathyroidism	4578	MT-TW	ORPHA:550
HP:0000829	Hypoparathyroidism	4540	MT-ND5	ORPHA:550
HP:0000829	Hypoparathyroidism	4541	MT-ND6	ORPHA:550
HP:0000829	Hypoparathyroidism	4535	MT-ND1	ORPHA:550
HP:0000829	Hypoparathyroidism	4538	MT-ND4	ORPHA:550
HP:0000829	Hypoparathyroidism	4567	MT-TL1	ORPHA:550
HP:0000829	Hypoparathyroidism	4574	MT-TS1	ORPHA:550
HP:0000829	Hypoparathyroidism	4575	MT-TS2	ORPHA:550
HP:0000829	Hypoparathyroidism	4564	MT-TH	ORPHA:550
HP:0000829	Hypoparathyroidism	6909	TBX2	OMIM:618223
HP:0000829	Hypoparathyroidism	5745	PTH1R	OMIM:156400
HP:0000829	Hypoparathyroidism	326	AIRE	OMIM:240300
HP:0000829	Hypoparathyroidism	326	AIRE	ORPHA:3453
HP:0000829	Hypoparathyroidism	3043	HBB	ORPHA:231214
HP:0000829	Hypoparathyroidism	3043	HBB	ORPHA:231222
HP:0000829	Hypoparathyroidism	3043	HBB	ORPHA:231226
HP:0000829	Hypoparathyroidism	10265	IRX5	OMIM:611174
HP:0000829	Hypoparathyroidism	51604	PIGT	ORPHA:369837
HP:0000829	Hypoparathyroidism	2625	GATA3	ORPHA:2237
HP:0000829	Hypoparathyroidism	2625	GATA3	OMIM:146255
HP:0000829	Hypoparathyroidism	5741	PTH	OMIM:146200
HP:0000829	Hypoparathyroidism	63901	FAM111A	OMIM:127000
HP:0000829	Hypoparathyroidism	3032	HADHB	ORPHA:746
HP:0000829	Hypoparathyroidism	3030	HADHA	ORPHA:746
HP:0000829	Hypoparathyroidism	7080	NKX2-1	ORPHA:209905
HP:0000829	Hypoparathyroidism	1312	COMT	ORPHA:567
HP:0000829	Hypoparathyroidism	221037	JMJD1C	ORPHA:567
HP:0000829	Hypoparathyroidism	2812	GP1BB	ORPHA:567
HP:0000829	Hypoparathyroidism	6239	RREB1	ORPHA:567
HP:0000829	Hypoparathyroidism	6899	TBX1	ORPHA:567
HP:0000829	Hypoparathyroidism	6899	TBX1	OMIM:192430
HP:0000829	Hypoparathyroidism	7290	HIRA	ORPHA:567
HP:0000829	Hypoparathyroidism	9632	SEC24C	ORPHA:567
HP:0000829	Hypoparathyroidism	7353	UFD1	ORPHA:567
HP:0000829	Hypoparathyroidism	421	ARVCF	ORPHA:567
HP:0000829	Hypoparathyroidism	6905	TBCE	ORPHA:496756
HP:0000829	Hypoparathyroidism	6905	TBCE	ORPHA:2323
HP:0000829	Hypoparathyroidism	55636	CHD7	OMIM:214800
HP:0000829	Hypoparathyroidism	9993	DGCR2	OMIM:192430
HP:0000829	Hypoparathyroidism	8220	ESS2	OMIM:192430
HP:0000829	Hypoparathyroidism	8214	DGCR6	OMIM:192430
HP:0000829	Hypoparathyroidism	54487	DGCR8	OMIM:192430
HP:0000829	Hypoparathyroidism	1287	COL4A5	OMIM:301050
HP:0000829	Hypoparathyroidism	540	ATP7B	OMIM:277900
HP:0000829	Hypoparathyroidism	9247	GCM2	ORPHA:2239
HP:0003010	Prolonged bleeding time	745	MYRF	OMIM:618280
HP:0003010	Prolonged bleeding time	3674	ITGA2B	OMIM:273800
HP:0003010	Prolonged bleeding time	3674	ITGA2B	ORPHA:849
HP:0003010	Prolonged bleeding time	7454	WAS	OMIM:301000
HP:0003010	Prolonged bleeding time	7454	WAS	ORPHA:906
HP:0003010	Prolonged bleeding time	7450	VWF	OMIM:193400
HP:0003010	Prolonged bleeding time	7450	VWF	OMIM:277480
HP:0003010	Prolonged bleeding time	2153	F5	OMIM:227400
HP:0003010	Prolonged bleeding time	54453	RIN2	OMIM:613075
HP:0003010	Prolonged bleeding time	2811	GP1BA	OMIM:177820
HP:0003010	Prolonged bleeding time	2811	GP1BA	OMIM:231200
HP:0003010	Prolonged bleeding time	51206	GP6	OMIM:614201
HP:0003010	Prolonged bleeding time	3257	HPS1	OMIM:203300
HP:0003010	Prolonged bleeding time	3690	ITGB3	ORPHA:849
HP:0003010	Prolonged bleeding time	3690	ITGB3	OMIM:619267
HP:0003010	Prolonged bleeding time	90993	CREB3L1	OMIM:616229
HP:0003010	Prolonged bleeding time	2147	F2	OMIM:613679
HP:0003010	Prolonged bleeding time	55109	AGGF1	ORPHA:90308
HP:0003010	Prolonged bleeding time	7456	WIPF1	ORPHA:906
HP:0003010	Prolonged bleeding time	9719	ADAMTSL2	ORPHA:1901
HP:0003010	Prolonged bleeding time	9509	ADAMTS2	ORPHA:1901
HP:0003010	Prolonged bleeding time	8546	AP3B1	OMIM:608233
HP:0003010	Prolonged bleeding time	2624	GATA2	ORPHA:3226
HP:0003010	Prolonged bleeding time	1277	COL1A1	ORPHA:287
HP:0003010	Prolonged bleeding time	1289	COL5A1	ORPHA:287
HP:0003010	Prolonged bleeding time	1290	COL5A2	ORPHA:287
HP:0003010	Prolonged bleeding time	861	RUNX1	OMIM:601399
HP:0003010	Prolonged bleeding time	10559	SLC35A1	ORPHA:238459
HP:0003010	Prolonged bleeding time	4627	MYH9	OMIM:155100
HP:0003010	Prolonged bleeding time	4627	MYH9	ORPHA:182050
HP:0003010	Prolonged bleeding time	948	CD36	OMIM:608404
HP:0003010	Prolonged bleeding time	11234	HPS5	OMIM:614074
HP:0003010	Prolonged bleeding time	79803	HPS6	OMIM:614075
HP:0003010	Prolonged bleeding time	2623	GATA1	OMIM:314050
HP:0003010	Prolonged bleeding time	84062	DTNBP1	OMIM:614076
HP:0003010	Prolonged bleeding time	2815	GP9	OMIM:231200
HP:0003010	Prolonged bleeding time	2812	GP1BB	OMIM:231200
HP:0003010	Prolonged bleeding time	7010	TEK	ORPHA:1059
HP:0003010	Prolonged bleeding time	9790	BMS1	ORPHA:1114
HP:0003010	Prolonged bleeding time	5339	PLEC	ORPHA:1114
HP:0003010	Prolonged bleeding time	10054	UBA2	ORPHA:1114
HP:0003010	Prolonged bleeding time	3691	ITGB4	ORPHA:1114
HP:0003010	Prolonged bleeding time	54567	DLL4	ORPHA:1114
HP:0003010	Prolonged bleeding time	10019	SH2B3	ORPHA:3318
HP:0003010	Prolonged bleeding time	811	CALR	ORPHA:3318
HP:0003010	Prolonged bleeding time	7157	TP53	ORPHA:3318
HP:0003010	Prolonged bleeding time	4352	MPL	ORPHA:3318
HP:0003010	Prolonged bleeding time	3717	JAK2	ORPHA:3318
HP:0003010	Prolonged bleeding time	54790	TET2	ORPHA:3318
HP:0003010	Prolonged bleeding time	10235	RASGRP2	OMIM:615888
HP:0003010	Prolonged bleeding time	5605	MAP2K2	ORPHA:638
HP:0003010	Prolonged bleeding time	4763	NF1	ORPHA:638
HP:0003010	Prolonged bleeding time	8328	GFI1B	OMIM:187900
HP:0003010	Prolonged bleeding time	23218	NBEAL2	OMIM:139090
HP:0008297	Transient hyperphenylalaninemia	2643	GCH1	ORPHA:98808
HP:0008297	Transient hyperphenylalaninemia	2643	GCH1	OMIM:128230
HP:0008297	Transient hyperphenylalaninemia	4929	NR4A2	ORPHA:98808
HP:0008297	Transient hyperphenylalaninemia	3615	IMPDH2	ORPHA:98808
HP:0008297	Transient hyperphenylalaninemia	5092	PCBD1	OMIM:264070
HP:0008297	Transient hyperphenylalaninemia	6697	SPR	OMIM:612716
HP:4000056	Abnormal apoptosis	54790	TET2	OMIM:619126
HP:4000057	Decreased FasL-mediated apoptosis	54790	TET2	OMIM:619126
HP:4000054	Exanthem	4598	MVK	OMIM:610377
HP:4000054	Exanthem	5551	PRF1	ORPHA:540
HP:4000054	Exanthem	8676	STX11	ORPHA:540
HP:4000054	Exanthem	201294	UNC13D	ORPHA:540
HP:4000054	Exanthem	6813	STXBP2	ORPHA:540
HP:4000054	Exanthem	171023	ASXL1	ORPHA:98850
HP:4000054	Exanthem	54790	TET2	ORPHA:98850
HP:4000054	Exanthem	867	CBL	ORPHA:98850
HP:4000054	Exanthem	861	RUNX1	ORPHA:98850
HP:4000054	Exanthem	6427	SRSF2	ORPHA:98850
HP:4000054	Exanthem	57169	ZNFX1	OMIM:619644
HP:4000054	Exanthem	114548	NLRP3	OMIM:191900
HP:4000054	Exanthem	7132	TNFRSF1A	OMIM:142680
HP:4000054	Exanthem	8517	IKBKG	OMIM:308300
HP:4000054	Exanthem	3815	KIT	ORPHA:79455
HP:4000054	Exanthem	56244	BTNL2	ORPHA:797
HP:4000054	Exanthem	3123	HLA-DRB1	ORPHA:797
HP:4000054	Exanthem	2038	EPB42	ORPHA:822
HP:4000054	Exanthem	6521	SLC4A1	ORPHA:822
HP:4000054	Exanthem	6710	SPTB	ORPHA:822
HP:4000054	Exanthem	6708	SPTA1	ORPHA:822
HP:4000054	Exanthem	286	ANK1	ORPHA:822
HP:4000055	Intestinal inflammation	1777	DNASE2	OMIM:619858
HP:0005787	Lumbar platyspondyly	1280	COL2A1	ORPHA:166011
HP:0005787	Lumbar platyspondyly	5331	PLCB3	OMIM:618961
HP:0010066	Duplication of phalanx of hallux	60	ACTB	OMIM:243310
HP:0010066	Duplication of phalanx of hallux	1387	CREBBP	OMIM:180849
HP:0010066	Duplication of phalanx of hallux	2033	EP300	OMIM:180849
HP:0010066	Duplication of phalanx of hallux	64327	LMBR1	OMIM:174500
HP:0010066	Duplication of phalanx of hallux	9851	KIAA0753	OMIM:617127
HP:0010066	Duplication of phalanx of hallux	374654	KIF7	OMIM:200990
HP:0010066	Duplication of phalanx of hallux	219844	HYLS1	OMIM:236680
HP:0010066	Duplication of phalanx of hallux	26005	C2CD3	ORPHA:434179
HP:0010066	Duplication of phalanx of hallux	7291	TWIST1	OMIM:180750
HP:0010066	Duplication of phalanx of hallux	51715	RAB23	OMIM:201000
HP:0010066	Duplication of phalanx of hallux	124583	CANT1	OMIM:251450
HP:0010066	Duplication of phalanx of hallux	4750	NEK1	ORPHA:2751
HP:0034156	Anti-beta-2-Glycoprotein I IgG antibody positivity	51371	POMP	OMIM:618048
HP:0034159	Paget disease of bone	3181	HNRNPA2B1	OMIM:615422
HP:0034159	Paget disease of bone	7415	VCP	OMIM:167320
HP:0005793	Shortening of all distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0005793	Shortening of all distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0005793	Shortening of all distal phalanges of the toes	59341	TRPV4	ORPHA:85169
HP:0005791	Cortical thickening of long bone diaphyses	4125	MAN2B1	ORPHA:309282
HP:0005791	Cortical thickening of long bone diaphyses	1277	COL1A1	ORPHA:1310
HP:0005791	Cortical thickening of long bone diaphyses	6905	TBCE	ORPHA:93324
HP:0005791	Cortical thickening of long bone diaphyses	7040	TGFB1	ORPHA:1328
HP:0005791	Cortical thickening of long bone diaphyses	7040	TGFB1	OMIM:131300
HP:0005791	Cortical thickening of long bone diaphyses	63901	FAM111A	ORPHA:93325
HP:0005790	Short mandibular condyles	5332	PLCB4	OMIM:614669
HP:0005790	Short mandibular condyles	5332	PLCB4	ORPHA:137888
HP:0005790	Short mandibular condyles	1906	EDN1	ORPHA:137888
HP:0005790	Short mandibular condyles	2773	GNAI3	ORPHA:137888
HP:0005790	Short mandibular condyles	2773	GNAI3	OMIM:602483
HP:0005789	Generalized osteosclerosis	1718	DHCR24	OMIM:602398
HP:0005789	Generalized osteosclerosis	1513	CTSK	ORPHA:763
HP:0005789	Generalized osteosclerosis	4041	LRP5	OMIM:607634
HP:0005789	Generalized osteosclerosis	4041	LRP5	ORPHA:2790
HP:0005789	Generalized osteosclerosis	4041	LRP5	ORPHA:3416
HP:0005789	Generalized osteosclerosis	1186	CLCN7	ORPHA:53
HP:0005789	Generalized osteosclerosis	1186	CLCN7	ORPHA:210110
HP:0005789	Generalized osteosclerosis	1186	CLCN7	OMIM:166600
HP:0005789	Generalized osteosclerosis	10312	TCIRG1	ORPHA:210110
HP:0005789	Generalized osteosclerosis	9842	PLEKHM1	ORPHA:210110
HP:0005789	Generalized osteosclerosis	5251	PHEX	ORPHA:89936
HP:0005789	Generalized osteosclerosis	50964	SOST	ORPHA:3416
HP:0005789	Generalized osteosclerosis	23592	LEMD3	ORPHA:1306
HP:0005789	Generalized osteosclerosis	5745	PTH1R	OMIM:215045
HP:0031609	Geographic atrophy	64802	NMNAT1	OMIM:619260
HP:0031609	Geographic atrophy	138050	HGSNAT	OMIM:616544
HP:0031609	Geographic atrophy	3614	IMPDH1	OMIM:180105
HP:0031609	Geographic atrophy	348	APOE	OMIM:603075
HP:0031609	Geographic atrophy	83872	HMCN1	OMIM:603075
HP:0031609	Geographic atrophy	3078	CFHR1	OMIM:603075
HP:0031609	Geographic atrophy	10878	CFHR3	OMIM:603075
HP:0031602	Abnormal mucociliary clearance	7161	TP73	OMIM:619466
HP:0031602	Abnormal mucociliary clearance	246176	GAS2L2	OMIM:618449
HP:0031610	Recurrent shoulder dislocation	4000	LMNA	OMIM:212112
HP:0031610	Recurrent shoulder dislocation	1278	COL1A2	ORPHA:230851
HP:0031613	Inferior chorioretinal coloboma	10058	ABCB6	OMIM:614497
HP:0031625	Pseudoaneurysm	2131	EXT1	ORPHA:321
HP:0031625	Pseudoaneurysm	2132	EXT2	ORPHA:321
HP:0034162	Abnormal circulating interleukin 10 concentration	8772	FADD	OMIM:613759
HP:0034162	Abnormal circulating interleukin 10 concentration	29775	CARD10	OMIM:619632
HP:0034163	Reduced circulating interleukin 10 concentration	29775	CARD10	OMIM:619632
HP:0034164	Abnormal circulating interleukin 21 concentration	29775	CARD10	OMIM:619632
HP:0034165	Reduced circulating interleukin 21 concentration	29775	CARD10	OMIM:619632
HP:0034167	Abnormal circulating interleukin 22 concentration	29775	CARD10	OMIM:619632
HP:0034168	Reduced circulating interleukin 22 concentration	29775	CARD10	OMIM:619632
HP:0031628	Aborted sudden cardiac death	5236	PGM1	OMIM:614921
HP:0031628	Aborted sudden cardiac death	775	CACNA1C	OMIM:618447
HP:0031628	Aborted sudden cardiac death	6262	RYR2	OMIM:115000
HP:0031628	Aborted sudden cardiac death	51422	PRKAG2	OMIM:600858
HP:0031629	Impaired tandem gait	3708	ITPR1	OMIM:117360
HP:0031629	Impaired tandem gait	3781	KCNN2	OMIM:619724
HP:0031629	Impaired tandem gait	2332	FMR1	OMIM:300623
HP:0031629	Impaired tandem gait	91574	MTRFR	ORPHA:254930
HP:0031629	Impaired tandem gait	65217	PCDH15	OMIM:602083
HP:0031629	Impaired tandem gait	10159	ATP6AP2	OMIM:300423
HP:0031629	Impaired tandem gait	54332	GDAP1	ORPHA:101097
HP:0031629	Impaired tandem gait	84274	COQ5	OMIM:619028
HP:0031629	Impaired tandem gait	5351	PLOD1	ORPHA:1900
HP:0031629	Impaired tandem gait	55343	SLC35C1	ORPHA:99843
HP:0031629	Impaired tandem gait	57465	TBC1D24	OMIM:605021
HP:0031629	Impaired tandem gait	182	JAG1	OMIM:619574
HP:0031623	Brow ptosis	4297	KMT2A	OMIM:605130
HP:0031624	Moderate myopia	444	ASPH	OMIM:601552
HP:0031624	Moderate myopia	2316	FLNA	ORPHA:555877
HP:0031624	Moderate myopia	8364	H4C3	OMIM:619758
HP:0031624	Moderate myopia	8367	H4C5	OMIM:619950
HP:0031624	Moderate myopia	1299	COL9A3	OMIM:620022
HP:0031630	Abnormal subpleural morphology	10568	SLC34A2	ORPHA:60025
HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	137814	NKX2-6	ORPHA:3384
HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	23129	PLXND1	ORPHA:3384
HP:0031649	Aortic rupture	55033	FKBP14	OMIM:614557
HP:0031649	Aortic rupture	4638	MYLK	OMIM:613780
HP:0031640	Abnormal radial artery morphology	6135	RPL11	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6138	RPL15	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6229	RPS24	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6125	RPL5	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6204	RPS10	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6224	RPS20	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6165	RPL35A	ORPHA:124
HP:0031640	Abnormal radial artery morphology	2623	GATA1	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6223	RPS19	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6232	RPS27	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6231	RPS26	ORPHA:124
HP:0031640	Abnormal radial artery morphology	11224	RPL35	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6160	RPL31	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6218	RPS17	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6201	RPS7	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6155	RPL27	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6154	RPL26	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6210	RPS15A	ORPHA:124
HP:0031640	Abnormal radial artery morphology	90121	TSR2	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6141	RPL18	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6235	RPS29	ORPHA:124
HP:0031640	Abnormal radial artery morphology	6234	RPS28	ORPHA:124
HP:0031640	Abnormal radial artery morphology	51816	ADA2	ORPHA:124
HP:0034170	Abnormal circulating interleukin 23 concentration	29775	CARD10	OMIM:619632
HP:0034171	Reduced circulating interleukin 23 concentration	29775	CARD10	OMIM:619632
HP:0034173	Abnormal circulating interleukin 27 concentration	29775	CARD10	OMIM:619632
HP:0034174	Reduced circulating interleukin 27 concentration	29775	CARD10	OMIM:619632
HP:0034176	Abnormal circulating interleukin 17A concentration	29775	CARD10	OMIM:619632
HP:0034177	Reduced circulating interleukin 17A concentration	29775	CARD10	OMIM:619632
HP:0034179	Vertebral artery aneurysm	4087	SMAD2	OMIM:619656
HP:0031643	Fusiform ascending tubular aorta aneurysm	4015	LOX	OMIM:617168
HP:0031658	Third heart sound	7092	TLL1	ORPHA:99106
HP:0031659	Fourth heart sound	4625	MYH7	OMIM:255160
HP:0031650	Abnormal atrioventricular valve physiology	4088	SMAD3	ORPHA:284984
HP:0031650	Abnormal atrioventricular valve physiology	4088	SMAD3	OMIM:613795
HP:0031650	Abnormal atrioventricular valve physiology	10128	LRPPRC	OMIM:220111
HP:0031650	Abnormal atrioventricular valve physiology	894	CCND2	ORPHA:83473
HP:0031650	Abnormal atrioventricular valve physiology	5296	PIK3R2	ORPHA:83473
HP:0031650	Abnormal atrioventricular valve physiology	5296	PIK3R2	OMIM:603387
HP:0031650	Abnormal atrioventricular valve physiology	10000	AKT3	ORPHA:83473
HP:0031650	Abnormal atrioventricular valve physiology	151648	SGO1	OMIM:616201
HP:0031650	Abnormal atrioventricular valve physiology	6016	RIT1	OMIM:615355
HP:0031650	Abnormal atrioventricular valve physiology	23394	ADNP	OMIM:615873
HP:0031650	Abnormal atrioventricular valve physiology	79912	PYROXD1	OMIM:617258
HP:0031650	Abnormal atrioventricular valve physiology	1788	DNMT3A	OMIM:615879
HP:0031650	Abnormal atrioventricular valve physiology	1788	DNMT3A	ORPHA:404443
HP:0031650	Abnormal atrioventricular valve physiology	4091	SMAD6	OMIM:614823
HP:0031650	Abnormal atrioventricular valve physiology	2316	FLNA	OMIM:314400
HP:0031650	Abnormal atrioventricular valve physiology	2316	FLNA	ORPHA:88630
HP:0031650	Abnormal atrioventricular valve physiology	2316	FLNA	ORPHA:555877
HP:0031650	Abnormal atrioventricular valve physiology	5428	POLG	OMIM:258450
HP:0031650	Abnormal atrioventricular valve physiology	5428	POLG	OMIM:607459
HP:0031650	Abnormal atrioventricular valve physiology	5894	RAF1	OMIM:615916
HP:0031650	Abnormal atrioventricular valve physiology	4125	MAN2B1	ORPHA:309282
HP:0031650	Abnormal atrioventricular valve physiology	1837	DTNA	OMIM:604169
HP:0031650	Abnormal atrioventricular valve physiology	1278	COL1A2	ORPHA:230851
HP:0031650	Abnormal atrioventricular valve physiology	1278	COL1A2	OMIM:225320
HP:0031650	Abnormal atrioventricular valve physiology	6392	SDHD	OMIM:619167
HP:0031650	Abnormal atrioventricular valve physiology	84665	MYPN	OMIM:615248
HP:0031650	Abnormal atrioventricular valve physiology	84665	MYPN	ORPHA:75249
HP:0031650	Abnormal atrioventricular valve physiology	10516	FBLN5	OMIM:614434
HP:0031650	Abnormal atrioventricular valve physiology	10516	FBLN5	ORPHA:90348
HP:0031650	Abnormal atrioventricular valve physiology	2201	FBN2	OMIM:121050
HP:0031650	Abnormal atrioventricular valve physiology	10216	PRG4	ORPHA:2848
HP:0031650	Abnormal atrioventricular valve physiology	55033	FKBP14	OMIM:614557
HP:0031650	Abnormal atrioventricular valve physiology	3949	LDLR	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	255738	PCSK9	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	26119	LDLRAP1	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	338	APOB	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	64240	ABCG5	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	64241	ABCG8	ORPHA:391665
HP:0031650	Abnormal atrioventricular valve physiology	6660	SOX5	ORPHA:313892
HP:0031650	Abnormal atrioventricular valve physiology	6197	RPS6KA3	OMIM:303600
HP:0031650	Abnormal atrioventricular valve physiology	2626	GATA4	OMIM:607941
HP:0031650	Abnormal atrioventricular valve physiology	2626	GATA4	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	65082	VPS33A	ORPHA:505248
HP:0031650	Abnormal atrioventricular valve physiology	3074	HEXB	ORPHA:309155
HP:0031650	Abnormal atrioventricular valve physiology	56915	EXOSC5	OMIM:619576
HP:0031650	Abnormal atrioventricular valve physiology	8642	DCHS1	OMIM:607829
HP:0031650	Abnormal atrioventricular valve physiology	63976	PRDM16	OMIM:615373
HP:0031650	Abnormal atrioventricular valve physiology	10265	IRX5	OMIM:611174
HP:0031650	Abnormal atrioventricular valve physiology	92579	G6PC3	OMIM:612541
HP:0031650	Abnormal atrioventricular valve physiology	29940	DSE	OMIM:615539
HP:0031650	Abnormal atrioventricular valve physiology	83550	GPR101	ORPHA:963
HP:0031650	Abnormal atrioventricular valve physiology	9049	AIP	ORPHA:963
HP:0031650	Abnormal atrioventricular valve physiology	2717	GLA	ORPHA:324
HP:0031650	Abnormal atrioventricular valve physiology	54539	NDUFB11	ORPHA:2556
HP:0031650	Abnormal atrioventricular valve physiology	1349	COX7B	ORPHA:2556
HP:0031650	Abnormal atrioventricular valve physiology	3052	HCCS	ORPHA:2556
HP:0031650	Abnormal atrioventricular valve physiology	1277	COL1A1	ORPHA:287
HP:0031650	Abnormal atrioventricular valve physiology	1289	COL5A1	ORPHA:287
HP:0031650	Abnormal atrioventricular valve physiology	1290	COL5A2	ORPHA:287
HP:0031650	Abnormal atrioventricular valve physiology	4763	NF1	ORPHA:363700
HP:0031650	Abnormal atrioventricular valve physiology	1193	CLIC2	ORPHA:324410
HP:0031650	Abnormal atrioventricular valve physiology	79576	NKAP	OMIM:301039
HP:0031650	Abnormal atrioventricular valve physiology	2318	FLNC	OMIM:617047
HP:0031650	Abnormal atrioventricular valve physiology	2318	FLNC	ORPHA:75249
HP:0031650	Abnormal atrioventricular valve physiology	4015	LOX	OMIM:617168
HP:0031650	Abnormal atrioventricular valve physiology	6885	MAP3K7	OMIM:157800
HP:0031650	Abnormal atrioventricular valve physiology	6885	MAP3K7	ORPHA:3238
HP:0031650	Abnormal atrioventricular valve physiology	2720	GLB1	OMIM:253010
HP:0031650	Abnormal atrioventricular valve physiology	175	AGA	OMIM:208400
HP:0031650	Abnormal atrioventricular valve physiology	3425	IDUA	OMIM:607014
HP:0031650	Abnormal atrioventricular valve physiology	3425	IDUA	OMIM:607015
HP:0031650	Abnormal atrioventricular valve physiology	9531	BAG3	OMIM:612954
HP:0031650	Abnormal atrioventricular valve physiology	4089	SMAD4	OMIM:175050
HP:0031650	Abnormal atrioventricular valve physiology	7092	TLL1	ORPHA:99106
HP:0031650	Abnormal atrioventricular valve physiology	7092	TLL1	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	81794	ADAMTS10	OMIM:277600
HP:0031650	Abnormal atrioventricular valve physiology	81794	ADAMTS10	ORPHA:3449
HP:0031650	Abnormal atrioventricular valve physiology	57057	TBX20	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	4624	MYH6	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	70	ACTC1	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	10370	CITED2	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	2627	GATA6	ORPHA:99103
HP:0031650	Abnormal atrioventricular valve physiology	10664	CTCF	ORPHA:363611
HP:0031650	Abnormal atrioventricular valve physiology	3572	IL6ST	OMIM:619750
HP:0031650	Abnormal atrioventricular valve physiology	6125	RPL5	OMIM:612561
HP:0031650	Abnormal atrioventricular valve physiology	5828	PEX2	OMIM:614866
HP:0031650	Abnormal atrioventricular valve physiology	6804	STX1A	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	7461	CLIP2	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	84277	DNAJC30	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	8468	FKBP6	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	5982	RFC2	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	2969	GTF2I	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	3984	LIMK1	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	9569	GTF2IRD1	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	155382	VPS37D	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	155368	METTL27	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	114049	BUD23	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	7458	EIF4H	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	84163	GTF2IRD2	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	9275	BCL7B	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	26608	TBL2	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	653361	NCF1	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	135886	TMEM270	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	51085	MLXIPL	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	51085	MLXIPL	OMIM:194050
HP:0031650	Abnormal atrioventricular valve physiology	9031	BAZ1B	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	2006	ELN	ORPHA:904
HP:0031650	Abnormal atrioventricular valve physiology	2006	ELN	OMIM:123700
HP:0031650	Abnormal atrioventricular valve physiology	2006	ELN	OMIM:194050
HP:0031650	Abnormal atrioventricular valve physiology	2006	ELN	ORPHA:90348
HP:0031650	Abnormal atrioventricular valve physiology	79770	TXNDC15	OMIM:619879
HP:0031650	Abnormal atrioventricular valve physiology	10290	SPEG	OMIM:615959
HP:0031650	Abnormal atrioventricular valve physiology	3032	HADHB	ORPHA:746
HP:0031650	Abnormal atrioventricular valve physiology	3030	HADHA	ORPHA:746
HP:0031650	Abnormal atrioventricular valve physiology	7139	TNNT2	ORPHA:75249
HP:0031650	Abnormal atrioventricular valve physiology	7137	TNNI3	ORPHA:75249
HP:0031650	Abnormal atrioventricular valve physiology	10112	KIF20A	ORPHA:75249
HP:0031650	Abnormal atrioventricular valve physiology	7168	TPM1	OMIM:611878
HP:0031650	Abnormal atrioventricular valve physiology	83475	DOHH	OMIM:620066
HP:0031650	Abnormal atrioventricular valve physiology	51284	TLR7	OMIM:301080
HP:0031650	Abnormal atrioventricular valve physiology	25915	NDUFAF3	ORPHA:70474
HP:0031650	Abnormal atrioventricular valve physiology	4714	NDUFB8	ORPHA:70474
HP:0031650	Abnormal atrioventricular valve physiology	4720	NDUFS2	ORPHA:70474
HP:0031650	Abnormal atrioventricular valve physiology	9997	SCO2	ORPHA:70474
HP:0031650	Abnormal atrioventricular valve physiology	6834	SURF1	ORPHA:70474
HP:0031650	Abnormal atrioventricular valve physiology	113189	CHST14	OMIM:601776
HP:0031650	Abnormal atrioventricular valve physiology	10651	MTX2	OMIM:619127
HP:0031650	Abnormal atrioventricular valve physiology	5594	MAPK1	OMIM:619087
HP:0031650	Abnormal atrioventricular valve physiology	29123	ANKRD11	ORPHA:261250
HP:0031650	Abnormal atrioventricular valve physiology	5500	PPP1CB	OMIM:617506
HP:0031650	Abnormal atrioventricular valve physiology	4625	MYH7	OMIM:613426
HP:0031650	Abnormal atrioventricular valve physiology	54800	KLHL24	OMIM:620236
HP:0031650	Abnormal atrioventricular valve physiology	2799	GNS	OMIM:252940
HP:0031650	Abnormal atrioventricular valve physiology	2273	FHL1	OMIM:300280
HP:0031650	Abnormal atrioventricular valve physiology	126792	B3GALT6	OMIM:271640
HP:0031650	Abnormal atrioventricular valve physiology	6123	RPL3L	OMIM:619371
HP:0031650	Abnormal atrioventricular valve physiology	442721	LMOD2	OMIM:619897
HP:0031650	Abnormal atrioventricular valve physiology	89970	RSPRY1	ORPHA:457395
HP:0031650	Abnormal atrioventricular valve physiology	4053	LTBP2	ORPHA:3449
HP:0031650	Abnormal atrioventricular valve physiology	5832	ALDH18A1	ORPHA:90348
HP:0031650	Abnormal atrioventricular valve physiology	5832	ALDH18A1	ORPHA:447753
HP:0031650	Abnormal atrioventricular valve physiology	8815	BANF1	OMIM:614008
HP:0031650	Abnormal atrioventricular valve physiology	22873	DZIP1	OMIM:610840
HP:0031650	Abnormal atrioventricular valve physiology	55901	THSD1	OMIM:620244
HP:0031650	Abnormal atrioventricular valve physiology	84188	FAR1	ORPHA:447753
HP:0031650	Abnormal atrioventricular valve physiology	57538	ALPK3	OMIM:618052
HP:0031650	Abnormal atrioventricular valve physiology	56652	TWNK	OMIM:607459
HP:0031650	Abnormal atrioventricular valve physiology	1410	CRYAB	OMIM:615184
HP:0031650	Abnormal atrioventricular valve physiology	4633	MYL2	OMIM:619424
HP:0031650	Abnormal atrioventricular valve physiology	5310	PKD1	OMIM:173900
HP:0031650	Abnormal atrioventricular valve physiology	7043	TGFB3	OMIM:615582
HP:0031650	Abnormal atrioventricular valve physiology	341208	HEPHL1	OMIM:261990
HP:0031650	Abnormal atrioventricular valve physiology	867	CBL	OMIM:613563
HP:0031650	Abnormal atrioventricular valve physiology	23590	PDSS1	OMIM:614651
HP:0031650	Abnormal atrioventricular valve physiology	6497	SKI	ORPHA:2462
HP:0031650	Abnormal atrioventricular valve physiology	4054	LTBP3	OMIM:617809
HP:0031650	Abnormal atrioventricular valve physiology	149233	IL23R	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	6775	STAT4	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	3586	IL10	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	4210	MEFV	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	1230	CCR1	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	355	FAS	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	3592	IL12A	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	3106	HLA-B	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	7099	TLR4	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	3459	IFNGR1	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	720	C4A	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	337867	UBAC2	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	51752	ERAP1	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	8302	KLRC4	ORPHA:117
HP:0031650	Abnormal atrioventricular valve physiology	6584	SLC22A5	OMIM:212140
HP:0031650	Abnormal atrioventricular valve physiology	5337	PLD1	OMIM:212093
HP:0031650	Abnormal atrioventricular valve physiology	7547	ZIC3	OMIM:306955
HP:0031650	Abnormal atrioventricular valve physiology	4000	LMNA	ORPHA:740
HP:0031650	Abnormal atrioventricular valve physiology	10269	ZMPSTE24	ORPHA:740
HP:0031650	Abnormal atrioventricular valve physiology	7707	ZNF148	OMIM:617260
HP:0031650	Abnormal atrioventricular valve physiology	23498	HAAO	OMIM:617660
HP:0031650	Abnormal atrioventricular valve physiology	64131	XYLT1	OMIM:264800
HP:0031650	Abnormal atrioventricular valve physiology	64132	XYLT2	OMIM:264800
HP:0031650	Abnormal atrioventricular valve physiology	368	ABCC6	OMIM:264800
HP:0031650	Abnormal atrioventricular valve physiology	8216	LZTR1	OMIM:616564
HP:0031650	Abnormal atrioventricular valve physiology	8216	LZTR1	OMIM:605275
HP:0031650	Abnormal atrioventricular valve physiology	127833	SYT2	OMIM:619461
HP:0031650	Abnormal atrioventricular valve physiology	2200	FBN1	OMIM:614185
HP:0031650	Abnormal atrioventricular valve physiology	9469	CHST3	OMIM:143095
HP:0031650	Abnormal atrioventricular valve physiology	2697	GJA1	ORPHA:2248
HP:0031650	Abnormal atrioventricular valve physiology	1482	NKX2-5	ORPHA:2248
HP:0031650	Abnormal atrioventricular valve physiology	55784	MCTP2	ORPHA:1596
HP:0031650	Abnormal atrioventricular valve physiology	2629	GBA1	OMIM:231005
HP:0031650	Abnormal atrioventricular valve physiology	7319	UBE2A	ORPHA:163956
HP:0031650	Abnormal atrioventricular valve physiology	4853	NOTCH2	ORPHA:955
HP:0031650	Abnormal atrioventricular valve physiology	9719	ADAMTSL2	OMIM:231050
HP:0031650	Abnormal atrioventricular valve physiology	4851	NOTCH1	OMIM:109730
HP:0031650	Abnormal atrioventricular valve physiology	411	ARSB	OMIM:253200
HP:0031650	Abnormal atrioventricular valve physiology	6331	SCN5A	OMIM:614022
HP:0031650	Abnormal atrioventricular valve physiology	54892	NCAPG2	OMIM:618460
HP:0031650	Abnormal atrioventricular valve physiology	4750	NEK1	OMIM:263520
HP:0031650	Abnormal atrioventricular valve physiology	29957	SLC25A24	OMIM:612289
HP:0031650	Abnormal atrioventricular valve physiology	171019	ADAMTS19	OMIM:620067
HP:0031650	Abnormal atrioventricular valve physiology	79796	ALG9	ORPHA:79328
HP:0031650	Abnormal atrioventricular valve physiology	114803	MYSM1	ORPHA:508542
HP:0031650	Abnormal atrioventricular valve physiology	23118	TAB2	ORPHA:228410
HP:0031650	Abnormal atrioventricular valve physiology	1857	DVL3	OMIM:616894
HP:0031650	Abnormal atrioventricular valve physiology	55790	CSGALNACT1	OMIM:618870
HP:0031650	Abnormal atrioventricular valve physiology	6901	TAFAZZIN	OMIM:302060
HP:0031650	Abnormal atrioventricular valve physiology	5573	PRKAR1A	ORPHA:615
HP:0031650	Abnormal atrioventricular valve physiology	10551	AGR2	OMIM:620233
HP:0031650	Abnormal atrioventricular valve physiology	7125	TNNC2	OMIM:620161
HP:0031650	Abnormal atrioventricular valve physiology	1340	COX6B1	OMIM:619051
HP:0031650	Abnormal atrioventricular valve physiology	4841	NONO	ORPHA:466791
HP:0031650	Abnormal atrioventricular valve physiology	79989	IFT56	OMIM:619534
HP:0031650	Abnormal atrioventricular valve physiology	537	ATP6AP1	OMIM:300972
HP:0031650	Abnormal atrioventricular valve physiology	54567	DLL4	OMIM:616589
HP:0031650	Abnormal atrioventricular valve physiology	388753	COA6	OMIM:616501
HP:0031650	Abnormal atrioventricular valve physiology	5885	RAD21	OMIM:611376
HP:0031650	Abnormal atrioventricular valve physiology	84100	ARL6	OMIM:600151
HP:0031650	Abnormal atrioventricular valve physiology	1000	CDH2	OMIM:618929
HP:0031650	Abnormal atrioventricular valve physiology	6045	RNF2	OMIM:619460
HP:0031650	Abnormal atrioventricular valve physiology	1616	DAXX	ORPHA:100075
HP:0031650	Abnormal atrioventricular valve physiology	546	ATRX	ORPHA:100075
HP:0031650	Abnormal atrioventricular valve physiology	22884	WDR37	OMIM:618652
HP:0031650	Abnormal atrioventricular valve physiology	96459	FNIP1	OMIM:619705
HP:0031650	Abnormal atrioventricular valve physiology	529	ATP6V1E1	OMIM:617402
HP:0031650	Abnormal atrioventricular valve physiology	1954	MEGF8	OMIM:614976
HP:0031650	Abnormal atrioventricular valve physiology	4613	MYCN	ORPHA:391641
HP:0031650	Abnormal atrioventricular valve physiology	4613	MYCN	OMIM:164280
HP:0031650	Abnormal atrioventricular valve physiology	6223	RPS19	OMIM:105650
HP:0031650	Abnormal atrioventricular valve physiology	79158	GNPTAB	ORPHA:576
HP:0031650	Abnormal atrioventricular valve physiology	80206	FHOD3	OMIM:619402
HP:0031651	Abnormal tricuspid valve physiology	5337	PLD1	OMIM:212093
HP:0031651	Abnormal tricuspid valve physiology	7092	TLL1	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	7092	TLL1	ORPHA:99106
HP:0031651	Abnormal tricuspid valve physiology	57057	TBX20	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	4624	MYH6	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	1482	NKX2-5	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	70	ACTC1	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	10370	CITED2	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	10370	CITED2	ORPHA:99105
HP:0031651	Abnormal tricuspid valve physiology	2626	GATA4	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	2627	GATA6	ORPHA:99103
HP:0031651	Abnormal tricuspid valve physiology	10112	KIF20A	OMIM:619433
HP:0031651	Abnormal tricuspid valve physiology	10112	KIF20A	ORPHA:75249
HP:0031651	Abnormal tricuspid valve physiology	6331	SCN5A	OMIM:614022
HP:0031651	Abnormal tricuspid valve physiology	54892	NCAPG2	OMIM:618460
HP:0031651	Abnormal tricuspid valve physiology	4750	NEK1	OMIM:263520
HP:0031651	Abnormal tricuspid valve physiology	29957	SLC25A24	OMIM:612289
HP:0031651	Abnormal tricuspid valve physiology	5828	PEX2	OMIM:614866
HP:0031651	Abnormal tricuspid valve physiology	1788	DNMT3A	OMIM:615879
HP:0031651	Abnormal tricuspid valve physiology	1788	DNMT3A	ORPHA:404443
HP:0031651	Abnormal tricuspid valve physiology	2316	FLNA	OMIM:314400
HP:0031651	Abnormal tricuspid valve physiology	2316	FLNA	ORPHA:555877
HP:0031651	Abnormal tricuspid valve physiology	79770	TXNDC15	OMIM:619879
HP:0031651	Abnormal tricuspid valve physiology	3032	HADHB	ORPHA:746
HP:0031651	Abnormal tricuspid valve physiology	3030	HADHA	ORPHA:746
HP:0031651	Abnormal tricuspid valve physiology	84665	MYPN	ORPHA:75249
HP:0031651	Abnormal tricuspid valve physiology	2318	FLNC	ORPHA:75249
HP:0031651	Abnormal tricuspid valve physiology	7139	TNNT2	ORPHA:75249
HP:0031651	Abnormal tricuspid valve physiology	7137	TNNI3	ORPHA:75249
HP:0031651	Abnormal tricuspid valve physiology	171019	ADAMTS19	OMIM:620067
HP:0031651	Abnormal tricuspid valve physiology	2200	FBN1	ORPHA:284979
HP:0031651	Abnormal tricuspid valve physiology	2200	FBN1	OMIM:154700
HP:0031651	Abnormal tricuspid valve physiology	83475	DOHH	OMIM:620066
HP:0031651	Abnormal tricuspid valve physiology	411	ARSB	OMIM:253200
HP:0031651	Abnormal tricuspid valve physiology	79796	ALG9	ORPHA:79328
HP:0031651	Abnormal tricuspid valve physiology	114803	MYSM1	ORPHA:508542
HP:0031651	Abnormal tricuspid valve physiology	113189	CHST14	OMIM:601776
HP:0031651	Abnormal tricuspid valve physiology	23118	TAB2	ORPHA:228410
HP:0031651	Abnormal tricuspid valve physiology	1278	COL1A2	ORPHA:230851
HP:0031651	Abnormal tricuspid valve physiology	10651	MTX2	OMIM:619127
HP:0031651	Abnormal tricuspid valve physiology	1857	DVL3	OMIM:616894
HP:0031651	Abnormal tricuspid valve physiology	368	ABCC6	OMIM:614473
HP:0031651	Abnormal tricuspid valve physiology	55790	CSGALNACT1	OMIM:618870
HP:0031651	Abnormal tricuspid valve physiology	6392	SDHD	OMIM:619167
HP:0031651	Abnormal tricuspid valve physiology	6392	SDHD	ORPHA:100093
HP:0031651	Abnormal tricuspid valve physiology	5500	PPP1CB	OMIM:617506
HP:0031651	Abnormal tricuspid valve physiology	4625	MYH7	OMIM:613426
HP:0031651	Abnormal tricuspid valve physiology	55033	FKBP14	OMIM:614557
HP:0031651	Abnormal tricuspid valve physiology	6901	TAFAZZIN	OMIM:302060
HP:0031651	Abnormal tricuspid valve physiology	5573	PRKAR1A	ORPHA:615
HP:0031651	Abnormal tricuspid valve physiology	10551	AGR2	OMIM:620233
HP:0031651	Abnormal tricuspid valve physiology	7125	TNNC2	OMIM:620161
HP:0031651	Abnormal tricuspid valve physiology	1340	COX6B1	OMIM:619051
HP:0031651	Abnormal tricuspid valve physiology	6123	RPL3L	OMIM:619371
HP:0031651	Abnormal tricuspid valve physiology	4841	NONO	ORPHA:466791
HP:0031651	Abnormal tricuspid valve physiology	65082	VPS33A	ORPHA:505248
HP:0031651	Abnormal tricuspid valve physiology	56915	EXOSC5	OMIM:619576
HP:0031651	Abnormal tricuspid valve physiology	79989	IFT56	OMIM:619534
HP:0031651	Abnormal tricuspid valve physiology	442721	LMOD2	OMIM:619897
HP:0031651	Abnormal tricuspid valve physiology	537	ATP6AP1	OMIM:300972
HP:0031651	Abnormal tricuspid valve physiology	9469	CHST3	OMIM:143095
HP:0031651	Abnormal tricuspid valve physiology	54567	DLL4	OMIM:616589
HP:0031651	Abnormal tricuspid valve physiology	388753	COA6	OMIM:616501
HP:0031651	Abnormal tricuspid valve physiology	5885	RAD21	OMIM:611376
HP:0031651	Abnormal tricuspid valve physiology	84100	ARL6	OMIM:600151
HP:0031651	Abnormal tricuspid valve physiology	1000	CDH2	OMIM:618929
HP:0031651	Abnormal tricuspid valve physiology	54539	NDUFB11	ORPHA:2556
HP:0031651	Abnormal tricuspid valve physiology	1349	COX7B	ORPHA:2556
HP:0031651	Abnormal tricuspid valve physiology	3052	HCCS	ORPHA:2556
HP:0031651	Abnormal tricuspid valve physiology	6045	RNF2	OMIM:619460
HP:0031651	Abnormal tricuspid valve physiology	57538	ALPK3	OMIM:618052
HP:0031651	Abnormal tricuspid valve physiology	1616	DAXX	ORPHA:100075
HP:0031651	Abnormal tricuspid valve physiology	546	ATRX	ORPHA:100075
HP:0031651	Abnormal tricuspid valve physiology	22884	WDR37	OMIM:618652
HP:0031651	Abnormal tricuspid valve physiology	1193	CLIC2	ORPHA:324410
HP:0031651	Abnormal tricuspid valve physiology	341208	HEPHL1	OMIM:261990
HP:0031651	Abnormal tricuspid valve physiology	96459	FNIP1	OMIM:619705
HP:0031651	Abnormal tricuspid valve physiology	529	ATP6V1E1	OMIM:617402
HP:0031651	Abnormal tricuspid valve physiology	1954	MEGF8	OMIM:614976
HP:0031651	Abnormal tricuspid valve physiology	4613	MYCN	ORPHA:391641
HP:0031651	Abnormal tricuspid valve physiology	4613	MYCN	OMIM:164280
HP:0031651	Abnormal tricuspid valve physiology	9719	ADAMTSL2	OMIM:231050
HP:0031651	Abnormal tricuspid valve physiology	6223	RPS19	OMIM:105650
HP:0031652	Abnormal aortic valve physiology	60	ACTB	OMIM:243310
HP:0031652	Abnormal aortic valve physiology	11285	B4GALT7	ORPHA:75496
HP:0031652	Abnormal aortic valve physiology	10682	EBP	ORPHA:401973
HP:0031652	Abnormal aortic valve physiology	10682	EBP	OMIM:300960
HP:0031652	Abnormal aortic valve physiology	7450	VWF	OMIM:193400
HP:0031652	Abnormal aortic valve physiology	23118	TAB2	OMIM:614980
HP:0031652	Abnormal aortic valve physiology	23118	TAB2	ORPHA:228410
HP:0031652	Abnormal aortic valve physiology	1859	DYRK1A	ORPHA:268261
HP:0031652	Abnormal aortic valve physiology	1859	DYRK1A	ORPHA:464311
HP:0031652	Abnormal aortic valve physiology	2200	FBN1	OMIM:614185
HP:0031652	Abnormal aortic valve physiology	2200	FBN1	OMIM:608328
HP:0031652	Abnormal aortic valve physiology	2200	FBN1	ORPHA:3449
HP:0031652	Abnormal aortic valve physiology	6873	TAF2	OMIM:615599
HP:0031652	Abnormal aortic valve physiology	7291	TWIST1	OMIM:123100
HP:0031652	Abnormal aortic valve physiology	57514	ARHGAP31	OMIM:100300
HP:0031652	Abnormal aortic valve physiology	4091	SMAD6	OMIM:614823
HP:0031652	Abnormal aortic valve physiology	4091	SMAD6	ORPHA:402075
HP:0031652	Abnormal aortic valve physiology	79753	SNIP1	OMIM:614501
HP:0031652	Abnormal aortic valve physiology	79813	EHMT1	ORPHA:96147
HP:0031652	Abnormal aortic valve physiology	9719	ADAMTSL2	OMIM:231050
HP:0031652	Abnormal aortic valve physiology	9839	ZEB2	ORPHA:261537
HP:0031652	Abnormal aortic valve physiology	9839	ZEB2	ORPHA:261552
HP:0031652	Abnormal aortic valve physiology	4000	LMNA	ORPHA:740
HP:0031652	Abnormal aortic valve physiology	4000	LMNA	ORPHA:363618
HP:0031652	Abnormal aortic valve physiology	4000	LMNA	ORPHA:79474
HP:0031652	Abnormal aortic valve physiology	10269	ZMPSTE24	ORPHA:740
HP:0031652	Abnormal aortic valve physiology	54880	BCOR	OMIM:300166
HP:0031652	Abnormal aortic valve physiology	7490	WT1	ORPHA:3097
HP:0031652	Abnormal aortic valve physiology	23498	HAAO	OMIM:617660
HP:0031652	Abnormal aortic valve physiology	1387	CREBBP	ORPHA:353281
HP:0031652	Abnormal aortic valve physiology	1387	CREBBP	ORPHA:353277
HP:0031652	Abnormal aortic valve physiology	2629	GBA1	OMIM:230800
HP:0031652	Abnormal aortic valve physiology	4089	SMAD4	OMIM:139210
HP:0031652	Abnormal aortic valve physiology	27031	NPHP3	OMIM:208540
HP:0031652	Abnormal aortic valve physiology	27031	NPHP3	OMIM:267010
HP:0031652	Abnormal aortic valve physiology	23586	RIGI	OMIM:616298
HP:0031652	Abnormal aortic valve physiology	7276	TTR	ORPHA:85451
HP:0031652	Abnormal aortic valve physiology	2033	EP300	ORPHA:353284
HP:0031652	Abnormal aortic valve physiology	4851	NOTCH1	ORPHA:402075
HP:0031652	Abnormal aortic valve physiology	4851	NOTCH1	OMIM:109730
HP:0031652	Abnormal aortic valve physiology	1482	NKX2-5	ORPHA:402075
HP:0031652	Abnormal aortic valve physiology	140628	GATA5	ORPHA:402075
HP:0031652	Abnormal aortic valve physiology	140628	GATA5	OMIM:617912
HP:0031652	Abnormal aortic valve physiology	64135	IFIH1	OMIM:182250
HP:0031652	Abnormal aortic valve physiology	9897	WASHC5	OMIM:220210
HP:0031652	Abnormal aortic valve physiology	9897	WASHC5	ORPHA:7
HP:0031652	Abnormal aortic valve physiology	84572	GNPTG	OMIM:252605
HP:0031652	Abnormal aortic valve physiology	153642	ARSK	OMIM:619698
HP:0031652	Abnormal aortic valve physiology	81031	SLC2A10	OMIM:208050
HP:0031652	Abnormal aortic valve physiology	84231	TRAF7	OMIM:618164
HP:0031652	Abnormal aortic valve physiology	9469	CHST3	OMIM:143095
HP:0031652	Abnormal aortic valve physiology	4053	LTBP2	ORPHA:3449
HP:0031652	Abnormal aortic valve physiology	4053	LTBP2	OMIM:614819
HP:0031652	Abnormal aortic valve physiology	81794	ADAMTS10	ORPHA:3449
HP:0031652	Abnormal aortic valve physiology	81794	ADAMTS10	OMIM:277600
HP:0031652	Abnormal aortic valve physiology	6324	SCN1B	OMIM:615377
HP:0031652	Abnormal aortic valve physiology	7026	NR2F2	OMIM:615779
HP:0031652	Abnormal aortic valve physiology	2260	FGFR1	ORPHA:2396
HP:0031652	Abnormal aortic valve physiology	3845	KRAS	ORPHA:2396
HP:0031652	Abnormal aortic valve physiology	284086	NEK8	OMIM:615415
HP:0031652	Abnormal aortic valve physiology	28952	CCDC22	ORPHA:7
HP:0031652	Abnormal aortic valve physiology	2294	FOXF1	ORPHA:210122
HP:0031652	Abnormal aortic valve physiology	203286	ANKS6	OMIM:615382
HP:0031652	Abnormal aortic valve physiology	1193	CLIC2	ORPHA:324410
HP:0031652	Abnormal aortic valve physiology	93233	ODAD1	OMIM:615067
HP:0031652	Abnormal aortic valve physiology	54538	ROBO4	OMIM:618496
HP:0031652	Abnormal aortic valve physiology	2720	GLB1	OMIM:253010
HP:0031652	Abnormal aortic valve physiology	867	CBL	OMIM:613563
HP:0031652	Abnormal aortic valve physiology	6023	RMRP	OMIM:607095
HP:0031652	Abnormal aortic valve physiology	139285	AMER1	ORPHA:2780
HP:0031652	Abnormal aortic valve physiology	4853	NOTCH2	ORPHA:955
HP:0031652	Abnormal aortic valve physiology	3425	IDUA	OMIM:607016
HP:0031652	Abnormal aortic valve physiology	2313	FLI1	ORPHA:2308
HP:0031652	Abnormal aortic valve physiology	1801	DPH1	ORPHA:459061
HP:0031652	Abnormal aortic valve physiology	375	ARF1	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	4131	MAP1B	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	2316	FLNA	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	2316	FLNA	OMIM:314400
HP:0031652	Abnormal aortic valve physiology	2316	FLNA	ORPHA:555877
HP:0031652	Abnormal aortic valve physiology	23327	NEDD4L	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	160418	TMTC3	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	10564	ARFGEF2	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	55780	ERMARD	ORPHA:98892
HP:0031652	Abnormal aortic valve physiology	4088	SMAD3	ORPHA:284984
HP:0031652	Abnormal aortic valve physiology	4088	SMAD3	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	22827	PUF60	ORPHA:508498
HP:0031652	Abnormal aortic valve physiology	8036	SHOC2	OMIM:607721
HP:0031652	Abnormal aortic valve physiology	137814	NKX2-6	ORPHA:3384
HP:0031652	Abnormal aortic valve physiology	23129	PLXND1	ORPHA:3384
HP:0031652	Abnormal aortic valve physiology	1278	COL1A2	OMIM:225320
HP:0031652	Abnormal aortic valve physiology	1278	COL1A2	ORPHA:230851
HP:0031652	Abnormal aortic valve physiology	6711	SPTBN1	OMIM:619475
HP:0031652	Abnormal aortic valve physiology	26128	KIFBP	OMIM:609460
HP:0031652	Abnormal aortic valve physiology	23334	SZT2	OMIM:615476
HP:0031652	Abnormal aortic valve physiology	5828	PEX2	OMIM:614866
HP:0031652	Abnormal aortic valve physiology	5832	ALDH18A1	OMIM:616603
HP:0031652	Abnormal aortic valve physiology	5832	ALDH18A1	ORPHA:90348
HP:0031652	Abnormal aortic valve physiology	4629	MYH11	ORPHA:229
HP:0031652	Abnormal aortic valve physiology	4629	MYH11	OMIM:132900
HP:0031652	Abnormal aortic valve physiology	4629	MYH11	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	171019	ADAMTS19	OMIM:620067
HP:0031652	Abnormal aortic valve physiology	83475	DOHH	OMIM:620066
HP:0031652	Abnormal aortic valve physiology	55027	HEATR3	OMIM:620072
HP:0031652	Abnormal aortic valve physiology	10021	HCN4	OMIM:163800
HP:0031652	Abnormal aortic valve physiology	4125	MAN2B1	ORPHA:309282
HP:0031652	Abnormal aortic valve physiology	4125	MAN2B1	ORPHA:309288
HP:0031652	Abnormal aortic valve physiology	113189	CHST14	OMIM:601776
HP:0031652	Abnormal aortic valve physiology	728294	D2HGDH	OMIM:600721
HP:0031652	Abnormal aortic valve physiology	3106	HLA-B	ORPHA:29207
HP:0031652	Abnormal aortic valve physiology	3106	HLA-B	OMIM:106300
HP:0031652	Abnormal aortic valve physiology	3106	HLA-B	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	613	BCR	ORPHA:261330
HP:0031652	Abnormal aortic valve physiology	1399	CRKL	ORPHA:261330
HP:0031652	Abnormal aortic valve physiology	5594	MAPK1	ORPHA:261330
HP:0031652	Abnormal aortic valve physiology	6651	SON	OMIM:617140
HP:0031652	Abnormal aortic valve physiology	9702	CEP57	OMIM:614114
HP:0031652	Abnormal aortic valve physiology	9702	CEP57	ORPHA:1052
HP:0031652	Abnormal aortic valve physiology	92002	CCNQ	ORPHA:140952
HP:0031652	Abnormal aortic valve physiology	55249	YY1AP1	ORPHA:79094
HP:0031652	Abnormal aortic valve physiology	79158	GNPTAB	OMIM:252500
HP:0031652	Abnormal aortic valve physiology	79158	GNPTAB	ORPHA:576
HP:0031652	Abnormal aortic valve physiology	79158	GNPTAB	OMIM:252600
HP:0031652	Abnormal aortic valve physiology	113246	C12orf57	OMIM:218340
HP:0031652	Abnormal aortic valve physiology	10559	SLC35A1	OMIM:603585
HP:0031652	Abnormal aortic valve physiology	2626	GATA4	OMIM:607941
HP:0031652	Abnormal aortic valve physiology	79989	IFT56	OMIM:619534
HP:0031652	Abnormal aortic valve physiology	442721	LMOD2	OMIM:619897
HP:0031652	Abnormal aortic valve physiology	9652	SKIC3	OMIM:222470
HP:0031652	Abnormal aortic valve physiology	9652	SKIC3	ORPHA:84064
HP:0031652	Abnormal aortic valve physiology	388753	COA6	OMIM:616501
HP:0031652	Abnormal aortic valve physiology	7703	PCGF2	OMIM:618371
HP:0031652	Abnormal aortic valve physiology	9184	BUB3	ORPHA:1052
HP:0031652	Abnormal aortic valve physiology	699	BUB1	ORPHA:1052
HP:0031652	Abnormal aortic valve physiology	9319	TRIP13	ORPHA:1052
HP:0031652	Abnormal aortic valve physiology	701	BUB1B	ORPHA:1052
HP:0031652	Abnormal aortic valve physiology	2702	GJA5	OMIM:612474
HP:0031652	Abnormal aortic valve physiology	2703	GJA8	OMIM:612474
HP:0031652	Abnormal aortic valve physiology	79875	THSD4	OMIM:619825
HP:0031652	Abnormal aortic valve physiology	6499	SKIC2	ORPHA:84064
HP:0031652	Abnormal aortic valve physiology	23590	PDSS1	OMIM:614651
HP:0031652	Abnormal aortic valve physiology	529	ATP6V1E1	OMIM:617402
HP:0031652	Abnormal aortic valve physiology	200734	SPRED2	OMIM:619745
HP:0031652	Abnormal aortic valve physiology	7046	TGFBR1	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	7048	TGFBR2	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	4015	LOX	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	4087	SMAD2	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	7043	TGFB3	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	7042	TGFB2	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	59	ACTA2	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	5592	PRKG1	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	2301	FOXE3	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	4144	MAT2A	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	23493	HEY2	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	8076	MFAP5	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	4638	MYLK	ORPHA:91387
HP:0031652	Abnormal aortic valve physiology	149233	IL23R	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	6775	STAT4	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	3586	IL10	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	4210	MEFV	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	1230	CCR1	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	355	FAS	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	3592	IL12A	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	7099	TLR4	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	3459	IFNGR1	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	720	C4A	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	337867	UBAC2	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	51752	ERAP1	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	8302	KLRC4	ORPHA:117
HP:0031652	Abnormal aortic valve physiology	3949	LDLR	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	255738	PCSK9	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	26119	LDLRAP1	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	338	APOB	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	64240	ABCG5	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	64241	ABCG8	ORPHA:391665
HP:0031652	Abnormal aortic valve physiology	2006	ELN	OMIM:185500
HP:0031652	Abnormal aortic valve physiology	2006	ELN	ORPHA:3193
HP:0031652	Abnormal aortic valve physiology	2006	ELN	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	2006	ELN	OMIM:194050
HP:0031652	Abnormal aortic valve physiology	4052	LTBP1	ORPHA:90349
HP:0031652	Abnormal aortic valve physiology	30008	EFEMP2	ORPHA:90349
HP:0031652	Abnormal aortic valve physiology	10516	FBLN5	ORPHA:90349
HP:0031652	Abnormal aortic valve physiology	10516	FBLN5	OMIM:219100
HP:0031652	Abnormal aortic valve physiology	6804	STX1A	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	7461	CLIP2	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	84277	DNAJC30	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	8468	FKBP6	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	5982	RFC2	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	2969	GTF2I	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	3984	LIMK1	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	9569	GTF2IRD1	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	155382	VPS37D	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	155368	METTL27	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	114049	BUD23	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	7458	EIF4H	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	84163	GTF2IRD2	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	9275	BCL7B	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	26608	TBL2	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	653361	NCF1	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	135886	TMEM270	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	51085	MLXIPL	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	51085	MLXIPL	OMIM:194050
HP:0031652	Abnormal aortic valve physiology	9031	BAZ1B	ORPHA:904
HP:0031652	Abnormal aortic valve physiology	22800	RRAS2	OMIM:618624
HP:0031652	Abnormal aortic valve physiology	85440	DOCK7	OMIM:615859
HP:0031653	Abnormal heart valve physiology	1281	COL3A1	OMIM:618343
HP:0031653	Abnormal heart valve physiology	6909	TBX2	OMIM:618223
HP:0031653	Abnormal heart valve physiology	151648	SGO1	OMIM:616201
HP:0031653	Abnormal heart valve physiology	91754	NEK9	OMIM:614262
HP:0031653	Abnormal heart valve physiology	6016	RIT1	OMIM:615355
HP:0031653	Abnormal heart valve physiology	132	ADK	OMIM:614300
HP:0031653	Abnormal heart valve physiology	6885	MAP3K7	OMIM:617137
HP:0031653	Abnormal heart valve physiology	673	BRAF	OMIM:115150
HP:0031653	Abnormal heart valve physiology	673	BRAF	ORPHA:1340
HP:0031653	Abnormal heart valve physiology	673	BRAF	ORPHA:500
HP:0031653	Abnormal heart valve physiology	673	BRAF	OMIM:613706
HP:0031653	Abnormal heart valve physiology	673	BRAF	OMIM:163950
HP:0031653	Abnormal heart valve physiology	84282	RNF135	ORPHA:137634
HP:0031653	Abnormal heart valve physiology	5894	RAF1	OMIM:611553
HP:0031653	Abnormal heart valve physiology	5894	RAF1	ORPHA:500
HP:0031653	Abnormal heart valve physiology	145173	B3GLCT	ORPHA:709
HP:0031653	Abnormal heart valve physiology	145173	B3GLCT	OMIM:261540
HP:0031653	Abnormal heart valve physiology	2657	GDF1	OMIM:613854
HP:0031653	Abnormal heart valve physiology	2657	GDF1	OMIM:208530
HP:0031653	Abnormal heart valve physiology	64220	STRA6	OMIM:601186
HP:0031653	Abnormal heart valve physiology	10093	ARPC4	OMIM:620141
HP:0031653	Abnormal heart valve physiology	55593	OTUD5	OMIM:301056
HP:0031653	Abnormal heart valve physiology	55315	SLC29A3	OMIM:602782
HP:0031653	Abnormal heart valve physiology	23291	FBXW11	OMIM:618914
HP:0031653	Abnormal heart valve physiology	4893	NRAS	OMIM:613224
HP:0031653	Abnormal heart valve physiology	998	CDC42	OMIM:616737
HP:0031653	Abnormal heart valve physiology	80055	PGAP1	OMIM:615802
HP:0031653	Abnormal heart valve physiology	3097	HIVEP2	OMIM:616977
HP:0031653	Abnormal heart valve physiology	9126	SMC3	OMIM:610759
HP:0031653	Abnormal heart valve physiology	4763	NF1	OMIM:601321
HP:0031653	Abnormal heart valve physiology	4763	NF1	ORPHA:363700
HP:0031653	Abnormal heart valve physiology	4763	NF1	ORPHA:97685
HP:0031653	Abnormal heart valve physiology	4763	NF1	OMIM:193520
HP:0031653	Abnormal heart valve physiology	4763	NF1	ORPHA:638
HP:0031653	Abnormal heart valve physiology	284058	KANSL1	ORPHA:363958
HP:0031653	Abnormal heart valve physiology	284058	KANSL1	ORPHA:363965
HP:0031653	Abnormal heart valve physiology	284058	KANSL1	OMIM:610443
HP:0031653	Abnormal heart valve physiology	1757	SARDH	ORPHA:3129
HP:0031653	Abnormal heart valve physiology	92579	G6PC3	OMIM:612541
HP:0031653	Abnormal heart valve physiology	9378	NRXN1	OMIM:614325
HP:0031653	Abnormal heart valve physiology	5604	MAP2K1	ORPHA:1340
HP:0031653	Abnormal heart valve physiology	5604	MAP2K1	OMIM:615279
HP:0031653	Abnormal heart valve physiology	5604	MAP2K1	OMIM:163950
HP:0031653	Abnormal heart valve physiology	5605	MAP2K2	ORPHA:1340
HP:0031653	Abnormal heart valve physiology	5605	MAP2K2	OMIM:615280
HP:0031653	Abnormal heart valve physiology	5605	MAP2K2	ORPHA:638
HP:0031653	Abnormal heart valve physiology	6597	SMARCA4	OMIM:614609
HP:0031653	Abnormal heart valve physiology	3265	HRAS	ORPHA:3071
HP:0031653	Abnormal heart valve physiology	3265	HRAS	OMIM:218040
HP:0031653	Abnormal heart valve physiology	22808	MRAS	OMIM:618499
HP:0031653	Abnormal heart valve physiology	5718	PSMD12	ORPHA:529962
HP:0031653	Abnormal heart valve physiology	2186	BPTF	ORPHA:529962
HP:0031653	Abnormal heart valve physiology	7403	KDM6A	OMIM:300867
HP:0031653	Abnormal heart valve physiology	23152	CIC	OMIM:617600
HP:0031653	Abnormal heart valve physiology	93627	TBCK	ORPHA:488632
HP:0031653	Abnormal heart valve physiology	55636	CHD7	OMIM:214800
HP:0031653	Abnormal heart valve physiology	2324	FLT4	OMIM:618780
HP:0031653	Abnormal heart valve physiology	3490	IGFBP7	OMIM:614224
HP:0031653	Abnormal heart valve physiology	8452	CUL3	OMIM:619239
HP:0031653	Abnormal heart valve physiology	2218	FKTN	OMIM:253800
HP:0031653	Abnormal heart valve physiology	5781	PTPN11	ORPHA:500
HP:0031653	Abnormal heart valve physiology	5781	PTPN11	OMIM:151100
HP:0031653	Abnormal heart valve physiology	5781	PTPN11	OMIM:163950
HP:0031653	Abnormal heart valve physiology	25915	NDUFAF3	ORPHA:70474
HP:0031653	Abnormal heart valve physiology	4714	NDUFB8	ORPHA:70474
HP:0031653	Abnormal heart valve physiology	4720	NDUFS2	ORPHA:70474
HP:0031653	Abnormal heart valve physiology	9997	SCO2	ORPHA:70474
HP:0031653	Abnormal heart valve physiology	6834	SURF1	ORPHA:70474
HP:0031653	Abnormal heart valve physiology	374879	ZNF699	OMIM:619488
HP:0031653	Abnormal heart valve physiology	51715	RAB23	OMIM:201000
HP:0031653	Abnormal heart valve physiology	90416	CCDC32	OMIM:619123
HP:0031653	Abnormal heart valve physiology	79633	FAT4	ORPHA:314679
HP:0031653	Abnormal heart valve physiology	8642	DCHS1	ORPHA:314679
HP:0031653	Abnormal heart valve physiology	11128	POLR3A	ORPHA:3455
HP:0031653	Abnormal heart valve physiology	11107	PRDM5	ORPHA:90354
HP:0031653	Abnormal heart valve physiology	84627	ZNF469	ORPHA:90354
HP:0031653	Abnormal heart valve physiology	51322	WAC	ORPHA:284169
HP:0031653	Abnormal heart valve physiology	84905	ZNF341	OMIM:618282
HP:0031653	Abnormal heart valve physiology	4256	MGP	OMIM:245150
HP:0031653	Abnormal heart valve physiology	650	BMP2	OMIM:617877
HP:0031653	Abnormal heart valve physiology	5167	ENPP1	OMIM:613312
HP:0031653	Abnormal heart valve physiology	7994	KAT6A	OMIM:616268
HP:0031653	Abnormal heart valve physiology	1107	CHD3	OMIM:618205
HP:0031653	Abnormal heart valve physiology	3756	KCNH1	OMIM:611816
HP:0031653	Abnormal heart valve physiology	27161	AGO2	OMIM:619149
HP:0031653	Abnormal heart valve physiology	54361	WNT4	ORPHA:139466
HP:0031653	Abnormal heart valve physiology	6155	RPL27	OMIM:617408
HP:0031653	Abnormal heart valve physiology	6655	SOS2	OMIM:616559
HP:0031653	Abnormal heart valve physiology	2719	GPC3	OMIM:312870
HP:0031653	Abnormal heart valve physiology	2239	GPC4	OMIM:312870
HP:0031653	Abnormal heart valve physiology	100128908	CIROP	OMIM:619702
HP:0031653	Abnormal heart valve physiology	1828	DSG1	OMIM:615508
HP:0031653	Abnormal heart valve physiology	6654	SOS1	OMIM:610733
HP:0031653	Abnormal heart valve physiology	4038	LRP4	OMIM:212780
HP:0031653	Abnormal heart valve physiology	27034	ACAD8	ORPHA:79159
HP:0031653	Abnormal heart valve physiology	60	ACTB	OMIM:243310
HP:0031653	Abnormal heart valve physiology	11285	B4GALT7	ORPHA:75496
HP:0031653	Abnormal heart valve physiology	10682	EBP	ORPHA:401973
HP:0031653	Abnormal heart valve physiology	10682	EBP	OMIM:300960
HP:0031653	Abnormal heart valve physiology	7450	VWF	OMIM:193400
HP:0031653	Abnormal heart valve physiology	23118	TAB2	OMIM:614980
HP:0031653	Abnormal heart valve physiology	23118	TAB2	ORPHA:228410
HP:0031653	Abnormal heart valve physiology	1859	DYRK1A	ORPHA:268261
HP:0031653	Abnormal heart valve physiology	1859	DYRK1A	ORPHA:464311
HP:0031653	Abnormal heart valve physiology	2200	FBN1	OMIM:614185
HP:0031653	Abnormal heart valve physiology	2200	FBN1	OMIM:608328
HP:0031653	Abnormal heart valve physiology	2200	FBN1	ORPHA:3449
HP:0031653	Abnormal heart valve physiology	6873	TAF2	OMIM:615599
HP:0031653	Abnormal heart valve physiology	7291	TWIST1	OMIM:123100
HP:0031653	Abnormal heart valve physiology	57514	ARHGAP31	OMIM:100300
HP:0031653	Abnormal heart valve physiology	4091	SMAD6	OMIM:614823
HP:0031653	Abnormal heart valve physiology	4091	SMAD6	ORPHA:402075
HP:0031653	Abnormal heart valve physiology	79753	SNIP1	OMIM:614501
HP:0031653	Abnormal heart valve physiology	79813	EHMT1	ORPHA:96147
HP:0031653	Abnormal heart valve physiology	9719	ADAMTSL2	OMIM:231050
HP:0031653	Abnormal heart valve physiology	9839	ZEB2	ORPHA:261537
HP:0031653	Abnormal heart valve physiology	9839	ZEB2	ORPHA:261552
HP:0031653	Abnormal heart valve physiology	4000	LMNA	ORPHA:740
HP:0031653	Abnormal heart valve physiology	4000	LMNA	ORPHA:363618
HP:0031653	Abnormal heart valve physiology	4000	LMNA	ORPHA:79474
HP:0031653	Abnormal heart valve physiology	10269	ZMPSTE24	ORPHA:740
HP:0031653	Abnormal heart valve physiology	54880	BCOR	OMIM:300166
HP:0031653	Abnormal heart valve physiology	7490	WT1	ORPHA:3097
HP:0031653	Abnormal heart valve physiology	23498	HAAO	OMIM:617660
HP:0031653	Abnormal heart valve physiology	1387	CREBBP	ORPHA:353281
HP:0031653	Abnormal heart valve physiology	1387	CREBBP	ORPHA:353277
HP:0031653	Abnormal heart valve physiology	2629	GBA1	OMIM:230800
HP:0031653	Abnormal heart valve physiology	4089	SMAD4	OMIM:139210
HP:0031653	Abnormal heart valve physiology	27031	NPHP3	OMIM:208540
HP:0031653	Abnormal heart valve physiology	27031	NPHP3	OMIM:267010
HP:0031653	Abnormal heart valve physiology	23586	RIGI	OMIM:616298
HP:0031653	Abnormal heart valve physiology	7276	TTR	ORPHA:85451
HP:0031653	Abnormal heart valve physiology	2033	EP300	ORPHA:353284
HP:0031653	Abnormal heart valve physiology	4851	NOTCH1	ORPHA:402075
HP:0031653	Abnormal heart valve physiology	4851	NOTCH1	OMIM:109730
HP:0031653	Abnormal heart valve physiology	1482	NKX2-5	ORPHA:402075
HP:0031653	Abnormal heart valve physiology	140628	GATA5	ORPHA:402075
HP:0031653	Abnormal heart valve physiology	140628	GATA5	OMIM:617912
HP:0031653	Abnormal heart valve physiology	64135	IFIH1	OMIM:182250
HP:0031653	Abnormal heart valve physiology	9897	WASHC5	OMIM:220210
HP:0031653	Abnormal heart valve physiology	9897	WASHC5	ORPHA:7
HP:0031653	Abnormal heart valve physiology	84572	GNPTG	OMIM:252605
HP:0031653	Abnormal heart valve physiology	153642	ARSK	OMIM:619698
HP:0031653	Abnormal heart valve physiology	81031	SLC2A10	OMIM:208050
HP:0031653	Abnormal heart valve physiology	84231	TRAF7	OMIM:618164
HP:0031653	Abnormal heart valve physiology	9469	CHST3	OMIM:143095
HP:0031653	Abnormal heart valve physiology	4053	LTBP2	ORPHA:3449
HP:0031653	Abnormal heart valve physiology	4053	LTBP2	OMIM:614819
HP:0031653	Abnormal heart valve physiology	81794	ADAMTS10	ORPHA:3449
HP:0031653	Abnormal heart valve physiology	81794	ADAMTS10	OMIM:277600
HP:0031653	Abnormal heart valve physiology	6324	SCN1B	OMIM:615377
HP:0031653	Abnormal heart valve physiology	7026	NR2F2	OMIM:615779
HP:0031653	Abnormal heart valve physiology	2260	FGFR1	ORPHA:2396
HP:0031653	Abnormal heart valve physiology	3845	KRAS	ORPHA:2396
HP:0031653	Abnormal heart valve physiology	284086	NEK8	OMIM:615415
HP:0031653	Abnormal heart valve physiology	28952	CCDC22	ORPHA:7
HP:0031653	Abnormal heart valve physiology	2294	FOXF1	ORPHA:210122
HP:0031653	Abnormal heart valve physiology	203286	ANKS6	OMIM:615382
HP:0031653	Abnormal heart valve physiology	1193	CLIC2	ORPHA:324410
HP:0031653	Abnormal heart valve physiology	93233	ODAD1	OMIM:615067
HP:0031653	Abnormal heart valve physiology	54538	ROBO4	OMIM:618496
HP:0031653	Abnormal heart valve physiology	2720	GLB1	OMIM:253010
HP:0031653	Abnormal heart valve physiology	867	CBL	OMIM:613563
HP:0031653	Abnormal heart valve physiology	6023	RMRP	OMIM:607095
HP:0031653	Abnormal heart valve physiology	139285	AMER1	ORPHA:2780
HP:0031653	Abnormal heart valve physiology	4853	NOTCH2	ORPHA:955
HP:0031653	Abnormal heart valve physiology	3425	IDUA	OMIM:607016
HP:0031653	Abnormal heart valve physiology	2313	FLI1	ORPHA:2308
HP:0031653	Abnormal heart valve physiology	1801	DPH1	ORPHA:459061
HP:0031653	Abnormal heart valve physiology	10128	LRPPRC	OMIM:220111
HP:0031653	Abnormal heart valve physiology	894	CCND2	ORPHA:83473
HP:0031653	Abnormal heart valve physiology	5296	PIK3R2	ORPHA:83473
HP:0031653	Abnormal heart valve physiology	5296	PIK3R2	OMIM:603387
HP:0031653	Abnormal heart valve physiology	10000	AKT3	ORPHA:83473
HP:0031653	Abnormal heart valve physiology	23394	ADNP	OMIM:615873
HP:0031653	Abnormal heart valve physiology	79912	PYROXD1	OMIM:617258
HP:0031653	Abnormal heart valve physiology	5428	POLG	OMIM:258450
HP:0031653	Abnormal heart valve physiology	5428	POLG	OMIM:607459
HP:0031653	Abnormal heart valve physiology	1837	DTNA	OMIM:604169
HP:0031653	Abnormal heart valve physiology	2201	FBN2	OMIM:121050
HP:0031653	Abnormal heart valve physiology	10216	PRG4	ORPHA:2848
HP:0031653	Abnormal heart valve physiology	6660	SOX5	ORPHA:313892
HP:0031653	Abnormal heart valve physiology	6197	RPS6KA3	OMIM:303600
HP:0031653	Abnormal heart valve physiology	3074	HEXB	ORPHA:309155
HP:0031653	Abnormal heart valve physiology	63976	PRDM16	OMIM:615373
HP:0031653	Abnormal heart valve physiology	10265	IRX5	OMIM:611174
HP:0031653	Abnormal heart valve physiology	29940	DSE	OMIM:615539
HP:0031653	Abnormal heart valve physiology	83550	GPR101	ORPHA:963
HP:0031653	Abnormal heart valve physiology	9049	AIP	ORPHA:963
HP:0031653	Abnormal heart valve physiology	2717	GLA	ORPHA:324
HP:0031653	Abnormal heart valve physiology	79576	NKAP	OMIM:301039
HP:0031653	Abnormal heart valve physiology	175	AGA	OMIM:208400
HP:0031653	Abnormal heart valve physiology	9531	BAG3	OMIM:612954
HP:0031653	Abnormal heart valve physiology	10664	CTCF	ORPHA:363611
HP:0031653	Abnormal heart valve physiology	3572	IL6ST	OMIM:619750
HP:0031653	Abnormal heart valve physiology	6125	RPL5	OMIM:612561
HP:0031653	Abnormal heart valve physiology	10290	SPEG	OMIM:615959
HP:0031653	Abnormal heart valve physiology	7168	TPM1	OMIM:611878
HP:0031653	Abnormal heart valve physiology	51284	TLR7	OMIM:301080
HP:0031653	Abnormal heart valve physiology	29123	ANKRD11	ORPHA:261250
HP:0031653	Abnormal heart valve physiology	2799	GNS	OMIM:252940
HP:0031653	Abnormal heart valve physiology	2273	FHL1	OMIM:300280
HP:0031653	Abnormal heart valve physiology	126792	B3GALT6	OMIM:271640
HP:0031653	Abnormal heart valve physiology	89970	RSPRY1	ORPHA:457395
HP:0031653	Abnormal heart valve physiology	8815	BANF1	OMIM:614008
HP:0031653	Abnormal heart valve physiology	22873	DZIP1	OMIM:610840
HP:0031653	Abnormal heart valve physiology	55901	THSD1	OMIM:620244
HP:0031653	Abnormal heart valve physiology	84188	FAR1	ORPHA:447753
HP:0031653	Abnormal heart valve physiology	56652	TWNK	OMIM:607459
HP:0031653	Abnormal heart valve physiology	1410	CRYAB	OMIM:615184
HP:0031653	Abnormal heart valve physiology	5310	PKD1	OMIM:173900
HP:0031653	Abnormal heart valve physiology	6497	SKI	ORPHA:2462
HP:0031653	Abnormal heart valve physiology	4054	LTBP3	OMIM:617809
HP:0031653	Abnormal heart valve physiology	6584	SLC22A5	OMIM:212140
HP:0031653	Abnormal heart valve physiology	375	ARF1	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	4131	MAP1B	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	23327	NEDD4L	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	160418	TMTC3	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	10564	ARFGEF2	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	55780	ERMARD	ORPHA:98892
HP:0031653	Abnormal heart valve physiology	4088	SMAD3	ORPHA:284984
HP:0031653	Abnormal heart valve physiology	4088	SMAD3	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	22827	PUF60	ORPHA:508498
HP:0031653	Abnormal heart valve physiology	8036	SHOC2	OMIM:607721
HP:0031653	Abnormal heart valve physiology	6711	SPTBN1	OMIM:619475
HP:0031653	Abnormal heart valve physiology	26128	KIFBP	OMIM:609460
HP:0031653	Abnormal heart valve physiology	23334	SZT2	OMIM:615476
HP:0031653	Abnormal heart valve physiology	5832	ALDH18A1	OMIM:616603
HP:0031653	Abnormal heart valve physiology	5832	ALDH18A1	ORPHA:90348
HP:0031653	Abnormal heart valve physiology	4629	MYH11	ORPHA:229
HP:0031653	Abnormal heart valve physiology	4629	MYH11	OMIM:132900
HP:0031653	Abnormal heart valve physiology	4629	MYH11	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	55027	HEATR3	OMIM:620072
HP:0031653	Abnormal heart valve physiology	10021	HCN4	OMIM:163800
HP:0031653	Abnormal heart valve physiology	4125	MAN2B1	ORPHA:309282
HP:0031653	Abnormal heart valve physiology	4125	MAN2B1	ORPHA:309288
HP:0031653	Abnormal heart valve physiology	728294	D2HGDH	OMIM:600721
HP:0031653	Abnormal heart valve physiology	3106	HLA-B	ORPHA:29207
HP:0031653	Abnormal heart valve physiology	3106	HLA-B	OMIM:106300
HP:0031653	Abnormal heart valve physiology	3106	HLA-B	ORPHA:117
HP:0031653	Abnormal heart valve physiology	613	BCR	ORPHA:261330
HP:0031653	Abnormal heart valve physiology	1399	CRKL	ORPHA:261330
HP:0031653	Abnormal heart valve physiology	5594	MAPK1	ORPHA:261330
HP:0031653	Abnormal heart valve physiology	6651	SON	OMIM:617140
HP:0031653	Abnormal heart valve physiology	9702	CEP57	OMIM:614114
HP:0031653	Abnormal heart valve physiology	9702	CEP57	ORPHA:1052
HP:0031653	Abnormal heart valve physiology	55249	YY1AP1	ORPHA:79094
HP:0031653	Abnormal heart valve physiology	113246	C12orf57	OMIM:218340
HP:0031653	Abnormal heart valve physiology	10559	SLC35A1	OMIM:603585
HP:0031653	Abnormal heart valve physiology	9652	SKIC3	OMIM:222470
HP:0031653	Abnormal heart valve physiology	9652	SKIC3	ORPHA:84064
HP:0031653	Abnormal heart valve physiology	7703	PCGF2	OMIM:618371
HP:0031653	Abnormal heart valve physiology	9184	BUB3	ORPHA:1052
HP:0031653	Abnormal heart valve physiology	699	BUB1	ORPHA:1052
HP:0031653	Abnormal heart valve physiology	9319	TRIP13	ORPHA:1052
HP:0031653	Abnormal heart valve physiology	701	BUB1B	ORPHA:1052
HP:0031653	Abnormal heart valve physiology	2702	GJA5	OMIM:612474
HP:0031653	Abnormal heart valve physiology	2703	GJA8	OMIM:612474
HP:0031653	Abnormal heart valve physiology	79875	THSD4	OMIM:619825
HP:0031653	Abnormal heart valve physiology	6499	SKIC2	ORPHA:84064
HP:0031653	Abnormal heart valve physiology	23590	PDSS1	OMIM:614651
HP:0031653	Abnormal heart valve physiology	200734	SPRED2	OMIM:619745
HP:0031653	Abnormal heart valve physiology	7046	TGFBR1	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	7048	TGFBR2	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	4015	LOX	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	4087	SMAD2	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	7043	TGFB3	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	7042	TGFB2	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	59	ACTA2	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	5592	PRKG1	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	2301	FOXE3	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	4144	MAT2A	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	23493	HEY2	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	8076	MFAP5	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	4638	MYLK	ORPHA:91387
HP:0031653	Abnormal heart valve physiology	149233	IL23R	ORPHA:117
HP:0031653	Abnormal heart valve physiology	6775	STAT4	ORPHA:117
HP:0031653	Abnormal heart valve physiology	3586	IL10	ORPHA:117
HP:0031653	Abnormal heart valve physiology	4210	MEFV	ORPHA:117
HP:0031653	Abnormal heart valve physiology	1230	CCR1	ORPHA:117
HP:0031653	Abnormal heart valve physiology	355	FAS	ORPHA:117
HP:0031653	Abnormal heart valve physiology	3592	IL12A	ORPHA:117
HP:0031653	Abnormal heart valve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031653	Abnormal heart valve physiology	7099	TLR4	ORPHA:117
HP:0031653	Abnormal heart valve physiology	3459	IFNGR1	ORPHA:117
HP:0031653	Abnormal heart valve physiology	720	C4A	ORPHA:117
HP:0031653	Abnormal heart valve physiology	337867	UBAC2	ORPHA:117
HP:0031653	Abnormal heart valve physiology	51752	ERAP1	ORPHA:117
HP:0031653	Abnormal heart valve physiology	8302	KLRC4	ORPHA:117
HP:0031653	Abnormal heart valve physiology	7547	ZIC3	OMIM:306955
HP:0031653	Abnormal heart valve physiology	7707	ZNF148	OMIM:617260
HP:0031653	Abnormal heart valve physiology	64131	XYLT1	OMIM:264800
HP:0031653	Abnormal heart valve physiology	64132	XYLT2	OMIM:264800
HP:0031653	Abnormal heart valve physiology	8216	LZTR1	OMIM:616564
HP:0031653	Abnormal heart valve physiology	8216	LZTR1	OMIM:605275
HP:0031653	Abnormal heart valve physiology	127833	SYT2	OMIM:619461
HP:0031653	Abnormal heart valve physiology	2697	GJA1	ORPHA:2248
HP:0031653	Abnormal heart valve physiology	55784	MCTP2	ORPHA:1596
HP:0031653	Abnormal heart valve physiology	7319	UBE2A	ORPHA:163956
HP:0031653	Abnormal heart valve physiology	3949	LDLR	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	255738	PCSK9	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	26119	LDLRAP1	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	338	APOB	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	64240	ABCG5	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	64241	ABCG8	ORPHA:391665
HP:0031653	Abnormal heart valve physiology	2006	ELN	OMIM:185500
HP:0031653	Abnormal heart valve physiology	2006	ELN	ORPHA:3193
HP:0031653	Abnormal heart valve physiology	2006	ELN	ORPHA:904
HP:0031653	Abnormal heart valve physiology	2006	ELN	OMIM:194050
HP:0031653	Abnormal heart valve physiology	4052	LTBP1	ORPHA:90349
HP:0031653	Abnormal heart valve physiology	10516	FBLN5	ORPHA:90349
HP:0031653	Abnormal heart valve physiology	10516	FBLN5	OMIM:219100
HP:0031653	Abnormal heart valve physiology	6804	STX1A	ORPHA:904
HP:0031653	Abnormal heart valve physiology	7461	CLIP2	ORPHA:904
HP:0031653	Abnormal heart valve physiology	84277	DNAJC30	ORPHA:904
HP:0031653	Abnormal heart valve physiology	8468	FKBP6	ORPHA:904
HP:0031653	Abnormal heart valve physiology	5982	RFC2	ORPHA:904
HP:0031653	Abnormal heart valve physiology	2969	GTF2I	ORPHA:904
HP:0031653	Abnormal heart valve physiology	3984	LIMK1	ORPHA:904
HP:0031653	Abnormal heart valve physiology	9569	GTF2IRD1	ORPHA:904
HP:0031653	Abnormal heart valve physiology	155382	VPS37D	ORPHA:904
HP:0031653	Abnormal heart valve physiology	155368	METTL27	ORPHA:904
HP:0031653	Abnormal heart valve physiology	114049	BUD23	ORPHA:904
HP:0031653	Abnormal heart valve physiology	7458	EIF4H	ORPHA:904
HP:0031653	Abnormal heart valve physiology	84163	GTF2IRD2	ORPHA:904
HP:0031653	Abnormal heart valve physiology	9275	BCL7B	ORPHA:904
HP:0031653	Abnormal heart valve physiology	26608	TBL2	ORPHA:904
HP:0031653	Abnormal heart valve physiology	653361	NCF1	ORPHA:904
HP:0031653	Abnormal heart valve physiology	135886	TMEM270	ORPHA:904
HP:0031653	Abnormal heart valve physiology	51085	MLXIPL	ORPHA:904
HP:0031653	Abnormal heart valve physiology	51085	MLXIPL	OMIM:194050
HP:0031653	Abnormal heart valve physiology	9031	BAZ1B	ORPHA:904
HP:0031653	Abnormal heart valve physiology	22800	RRAS2	OMIM:618624
HP:0031653	Abnormal heart valve physiology	85440	DOCK7	OMIM:615859
HP:0031653	Abnormal heart valve physiology	7092	TLL1	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	7092	TLL1	ORPHA:99106
HP:0031653	Abnormal heart valve physiology	57057	TBX20	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	4624	MYH6	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	70	ACTC1	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	10370	CITED2	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	10370	CITED2	ORPHA:99105
HP:0031653	Abnormal heart valve physiology	2626	GATA4	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	2627	GATA6	ORPHA:99103
HP:0031653	Abnormal heart valve physiology	6331	SCN5A	OMIM:614022
HP:0031653	Abnormal heart valve physiology	54892	NCAPG2	OMIM:618460
HP:0031653	Abnormal heart valve physiology	4750	NEK1	OMIM:263520
HP:0031653	Abnormal heart valve physiology	29957	SLC25A24	OMIM:612289
HP:0031653	Abnormal heart valve physiology	5828	PEX2	OMIM:614866
HP:0031653	Abnormal heart valve physiology	1788	DNMT3A	OMIM:615879
HP:0031653	Abnormal heart valve physiology	1788	DNMT3A	ORPHA:404443
HP:0031653	Abnormal heart valve physiology	79770	TXNDC15	OMIM:619879
HP:0031653	Abnormal heart valve physiology	3032	HADHB	ORPHA:746
HP:0031653	Abnormal heart valve physiology	3030	HADHA	ORPHA:746
HP:0031653	Abnormal heart valve physiology	84665	MYPN	ORPHA:75249
HP:0031653	Abnormal heart valve physiology	2318	FLNC	ORPHA:75249
HP:0031653	Abnormal heart valve physiology	7139	TNNT2	ORPHA:75249
HP:0031653	Abnormal heart valve physiology	7137	TNNI3	ORPHA:75249
HP:0031653	Abnormal heart valve physiology	83475	DOHH	OMIM:620066
HP:0031653	Abnormal heart valve physiology	79796	ALG9	ORPHA:79328
HP:0031653	Abnormal heart valve physiology	114803	MYSM1	ORPHA:508542
HP:0031653	Abnormal heart valve physiology	113189	CHST14	OMIM:601776
HP:0031653	Abnormal heart valve physiology	10651	MTX2	OMIM:619127
HP:0031653	Abnormal heart valve physiology	1857	DVL3	OMIM:616894
HP:0031653	Abnormal heart valve physiology	368	ABCC6	OMIM:614473
HP:0031653	Abnormal heart valve physiology	55790	CSGALNACT1	OMIM:618870
HP:0031653	Abnormal heart valve physiology	6392	SDHD	OMIM:619167
HP:0031653	Abnormal heart valve physiology	6392	SDHD	ORPHA:100093
HP:0031653	Abnormal heart valve physiology	5500	PPP1CB	OMIM:617506
HP:0031653	Abnormal heart valve physiology	4625	MYH7	OMIM:613426
HP:0031653	Abnormal heart valve physiology	55033	FKBP14	OMIM:614557
HP:0031653	Abnormal heart valve physiology	6901	TAFAZZIN	OMIM:302060
HP:0031653	Abnormal heart valve physiology	5573	PRKAR1A	ORPHA:615
HP:0031653	Abnormal heart valve physiology	10551	AGR2	OMIM:620233
HP:0031653	Abnormal heart valve physiology	7125	TNNC2	OMIM:620161
HP:0031653	Abnormal heart valve physiology	1340	COX6B1	OMIM:619051
HP:0031653	Abnormal heart valve physiology	6123	RPL3L	OMIM:619371
HP:0031653	Abnormal heart valve physiology	4841	NONO	ORPHA:466791
HP:0031653	Abnormal heart valve physiology	65082	VPS33A	ORPHA:505248
HP:0031653	Abnormal heart valve physiology	56915	EXOSC5	OMIM:619576
HP:0031653	Abnormal heart valve physiology	79989	IFT56	OMIM:619534
HP:0031653	Abnormal heart valve physiology	442721	LMOD2	OMIM:619897
HP:0031653	Abnormal heart valve physiology	537	ATP6AP1	OMIM:300972
HP:0031653	Abnormal heart valve physiology	54567	DLL4	OMIM:616589
HP:0031653	Abnormal heart valve physiology	388753	COA6	OMIM:616501
HP:0031653	Abnormal heart valve physiology	5885	RAD21	OMIM:611376
HP:0031653	Abnormal heart valve physiology	84100	ARL6	OMIM:600151
HP:0031653	Abnormal heart valve physiology	1000	CDH2	OMIM:618929
HP:0031653	Abnormal heart valve physiology	54539	NDUFB11	ORPHA:2556
HP:0031653	Abnormal heart valve physiology	1349	COX7B	ORPHA:2556
HP:0031653	Abnormal heart valve physiology	3052	HCCS	ORPHA:2556
HP:0031653	Abnormal heart valve physiology	6045	RNF2	OMIM:619460
HP:0031653	Abnormal heart valve physiology	57538	ALPK3	OMIM:618052
HP:0031653	Abnormal heart valve physiology	1616	DAXX	ORPHA:100075
HP:0031653	Abnormal heart valve physiology	546	ATRX	ORPHA:100075
HP:0031653	Abnormal heart valve physiology	22884	WDR37	OMIM:618652
HP:0031653	Abnormal heart valve physiology	341208	HEPHL1	OMIM:261990
HP:0031653	Abnormal heart valve physiology	96459	FNIP1	OMIM:619705
HP:0031653	Abnormal heart valve physiology	529	ATP6V1E1	OMIM:617402
HP:0031653	Abnormal heart valve physiology	1954	MEGF8	OMIM:614976
HP:0031653	Abnormal heart valve physiology	100	ADA	ORPHA:277
HP:0031653	Abnormal heart valve physiology	2316	FLNA	ORPHA:555877
HP:0031653	Abnormal heart valve physiology	221496	LEMD2	OMIM:619322
HP:0031653	Abnormal heart valve physiology	10112	KIF20A	OMIM:619433
HP:0031653	Abnormal heart valve physiology	1278	COL1A2	ORPHA:230851
HP:0031653	Abnormal heart valve physiology	1278	COL1A2	OMIM:166210
HP:0031653	Abnormal heart valve physiology	30008	EFEMP2	OMIM:614437
HP:0031653	Abnormal heart valve physiology	83544	DNAL1	OMIM:614017
HP:0031653	Abnormal heart valve physiology	1277	COL1A1	OMIM:166210
HP:0031653	Abnormal heart valve physiology	6440	SFTPC	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	729238	SFTPA2	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	79991	STN1	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	653509	SFTPA1	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	21	ABCA3	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	1832	DSP	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	727897	MUC5B	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	10144	FAM13A	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	23250	ATP11A	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	91039	DPP9	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	51750	RTEL1	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	7012	TERC	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	5073	PARN	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	7015	TERT	ORPHA:2032
HP:0031653	Abnormal heart valve physiology	171019	ADAMTS19	OMIM:620067
HP:0031653	Abnormal heart valve physiology	27130	INVS	OMIM:602088
HP:0031653	Abnormal heart valve physiology	411	ARSB	OMIM:253200
HP:0031653	Abnormal heart valve physiology	4613	MYCN	ORPHA:391641
HP:0031653	Abnormal heart valve physiology	4613	MYCN	OMIM:164280
HP:0031653	Abnormal heart valve physiology	6223	RPS19	OMIM:105650
HP:0031653	Abnormal heart valve physiology	79158	GNPTAB	ORPHA:576
HP:0031653	Abnormal heart valve physiology	1289	COL5A1	ORPHA:287
HP:0031653	Abnormal heart valve physiology	1290	COL5A2	ORPHA:287
HP:0031653	Abnormal heart valve physiology	137814	NKX2-6	ORPHA:3384
HP:0031653	Abnormal heart valve physiology	23129	PLXND1	ORPHA:3384
HP:0031653	Abnormal heart valve physiology	4633	MYL2	OMIM:608758
HP:0031653	Abnormal heart valve physiology	54800	KLHL24	OMIM:620236
HP:0031653	Abnormal heart valve physiology	80206	FHOD3	OMIM:619402
HP:0031653	Abnormal heart valve physiology	5337	PLD1	OMIM:212093
HP:0031653	Abnormal heart valve physiology	161742	SPRED1	OMIM:611431
HP:0031653	Abnormal heart valve physiology	23137	SMC5	OMIM:620185
HP:0031653	Abnormal heart valve physiology	92002	CCNQ	OMIM:300707
HP:0031654	Abnormal pulmonary valve physiology	4088	SMAD3	ORPHA:284984
HP:0031654	Abnormal pulmonary valve physiology	4088	SMAD3	OMIM:613795
HP:0031654	Abnormal pulmonary valve physiology	8036	SHOC2	OMIM:607721
HP:0031654	Abnormal pulmonary valve physiology	8036	SHOC2	ORPHA:2701
HP:0031654	Abnormal pulmonary valve physiology	137814	NKX2-6	ORPHA:3384
HP:0031654	Abnormal pulmonary valve physiology	23129	PLXND1	ORPHA:3384
HP:0031654	Abnormal pulmonary valve physiology	1281	COL3A1	OMIM:618343
HP:0031654	Abnormal pulmonary valve physiology	6909	TBX2	OMIM:618223
HP:0031654	Abnormal pulmonary valve physiology	8216	LZTR1	OMIM:616564
HP:0031654	Abnormal pulmonary valve physiology	8216	LZTR1	OMIM:605275
HP:0031654	Abnormal pulmonary valve physiology	151648	SGO1	OMIM:616201
HP:0031654	Abnormal pulmonary valve physiology	91754	NEK9	OMIM:614262
HP:0031654	Abnormal pulmonary valve physiology	6016	RIT1	OMIM:615355
HP:0031654	Abnormal pulmonary valve physiology	132	ADK	OMIM:614300
HP:0031654	Abnormal pulmonary valve physiology	6885	MAP3K7	OMIM:617137
HP:0031654	Abnormal pulmonary valve physiology	673	BRAF	OMIM:115150
HP:0031654	Abnormal pulmonary valve physiology	673	BRAF	ORPHA:1340
HP:0031654	Abnormal pulmonary valve physiology	673	BRAF	ORPHA:500
HP:0031654	Abnormal pulmonary valve physiology	673	BRAF	OMIM:613706
HP:0031654	Abnormal pulmonary valve physiology	673	BRAF	OMIM:163950
HP:0031654	Abnormal pulmonary valve physiology	84282	RNF135	ORPHA:137634
HP:0031654	Abnormal pulmonary valve physiology	4091	SMAD6	OMIM:614823
HP:0031654	Abnormal pulmonary valve physiology	5894	RAF1	OMIM:611553
HP:0031654	Abnormal pulmonary valve physiology	5894	RAF1	ORPHA:500
HP:0031654	Abnormal pulmonary valve physiology	145173	B3GLCT	ORPHA:709
HP:0031654	Abnormal pulmonary valve physiology	145173	B3GLCT	OMIM:261540
HP:0031654	Abnormal pulmonary valve physiology	2657	GDF1	OMIM:613854
HP:0031654	Abnormal pulmonary valve physiology	2657	GDF1	OMIM:208530
HP:0031654	Abnormal pulmonary valve physiology	2626	GATA4	OMIM:614429
HP:0031654	Abnormal pulmonary valve physiology	2626	GATA4	OMIM:607941
HP:0031654	Abnormal pulmonary valve physiology	9839	ZEB2	OMIM:235730
HP:0031654	Abnormal pulmonary valve physiology	9839	ZEB2	ORPHA:261552
HP:0031654	Abnormal pulmonary valve physiology	9839	ZEB2	ORPHA:261537
HP:0031654	Abnormal pulmonary valve physiology	64220	STRA6	OMIM:601186
HP:0031654	Abnormal pulmonary valve physiology	10093	ARPC4	OMIM:620141
HP:0031654	Abnormal pulmonary valve physiology	55593	OTUD5	OMIM:301056
HP:0031654	Abnormal pulmonary valve physiology	2627	GATA6	OMIM:600001
HP:0031654	Abnormal pulmonary valve physiology	2627	GATA6	ORPHA:2255
HP:0031654	Abnormal pulmonary valve physiology	55315	SLC29A3	OMIM:602782
HP:0031654	Abnormal pulmonary valve physiology	23118	TAB2	ORPHA:228410
HP:0031654	Abnormal pulmonary valve physiology	1387	CREBBP	ORPHA:353281
HP:0031654	Abnormal pulmonary valve physiology	1387	CREBBP	ORPHA:353277
HP:0031654	Abnormal pulmonary valve physiology	23291	FBXW11	OMIM:618914
HP:0031654	Abnormal pulmonary valve physiology	4893	NRAS	OMIM:613224
HP:0031654	Abnormal pulmonary valve physiology	998	CDC42	OMIM:616737
HP:0031654	Abnormal pulmonary valve physiology	80055	PGAP1	OMIM:615802
HP:0031654	Abnormal pulmonary valve physiology	2033	EP300	ORPHA:353284
HP:0031654	Abnormal pulmonary valve physiology	3097	HIVEP2	OMIM:616977
HP:0031654	Abnormal pulmonary valve physiology	9126	SMC3	OMIM:610759
HP:0031654	Abnormal pulmonary valve physiology	4763	NF1	OMIM:601321
HP:0031654	Abnormal pulmonary valve physiology	4763	NF1	ORPHA:363700
HP:0031654	Abnormal pulmonary valve physiology	4763	NF1	ORPHA:97685
HP:0031654	Abnormal pulmonary valve physiology	4763	NF1	OMIM:193520
HP:0031654	Abnormal pulmonary valve physiology	4763	NF1	ORPHA:638
HP:0031654	Abnormal pulmonary valve physiology	7547	ZIC3	OMIM:306955
HP:0031654	Abnormal pulmonary valve physiology	284058	KANSL1	ORPHA:363958
HP:0031654	Abnormal pulmonary valve physiology	284058	KANSL1	ORPHA:363965
HP:0031654	Abnormal pulmonary valve physiology	284058	KANSL1	OMIM:610443
HP:0031654	Abnormal pulmonary valve physiology	9469	CHST3	OMIM:143095
HP:0031654	Abnormal pulmonary valve physiology	1757	SARDH	ORPHA:3129
HP:0031654	Abnormal pulmonary valve physiology	92579	G6PC3	OMIM:612541
HP:0031654	Abnormal pulmonary valve physiology	9378	NRXN1	OMIM:614325
HP:0031654	Abnormal pulmonary valve physiology	5604	MAP2K1	ORPHA:1340
HP:0031654	Abnormal pulmonary valve physiology	5604	MAP2K1	OMIM:615279
HP:0031654	Abnormal pulmonary valve physiology	5604	MAP2K1	OMIM:163950
HP:0031654	Abnormal pulmonary valve physiology	5605	MAP2K2	ORPHA:1340
HP:0031654	Abnormal pulmonary valve physiology	5605	MAP2K2	OMIM:615280
HP:0031654	Abnormal pulmonary valve physiology	5605	MAP2K2	ORPHA:638
HP:0031654	Abnormal pulmonary valve physiology	3845	KRAS	ORPHA:1340
HP:0031654	Abnormal pulmonary valve physiology	3845	KRAS	OMIM:609942
HP:0031654	Abnormal pulmonary valve physiology	284086	NEK8	OMIM:615415
HP:0031654	Abnormal pulmonary valve physiology	6597	SMARCA4	OMIM:614609
HP:0031654	Abnormal pulmonary valve physiology	3265	HRAS	ORPHA:3071
HP:0031654	Abnormal pulmonary valve physiology	3265	HRAS	OMIM:218040
HP:0031654	Abnormal pulmonary valve physiology	203286	ANKS6	OMIM:615382
HP:0031654	Abnormal pulmonary valve physiology	22808	MRAS	OMIM:618499
HP:0031654	Abnormal pulmonary valve physiology	5718	PSMD12	ORPHA:529962
HP:0031654	Abnormal pulmonary valve physiology	2186	BPTF	ORPHA:529962
HP:0031654	Abnormal pulmonary valve physiology	7403	KDM6A	OMIM:300867
HP:0031654	Abnormal pulmonary valve physiology	5500	PPP1CB	ORPHA:2701
HP:0031654	Abnormal pulmonary valve physiology	5500	PPP1CB	OMIM:617506
HP:0031654	Abnormal pulmonary valve physiology	23152	CIC	OMIM:617600
HP:0031654	Abnormal pulmonary valve physiology	93627	TBCK	ORPHA:488632
HP:0031654	Abnormal pulmonary valve physiology	55636	CHD7	OMIM:214800
HP:0031654	Abnormal pulmonary valve physiology	200734	SPRED2	OMIM:619745
HP:0031654	Abnormal pulmonary valve physiology	81794	ADAMTS10	OMIM:277600
HP:0031654	Abnormal pulmonary valve physiology	81794	ADAMTS10	ORPHA:3449
HP:0031654	Abnormal pulmonary valve physiology	11285	B4GALT7	ORPHA:75496
HP:0031654	Abnormal pulmonary valve physiology	2006	ELN	OMIM:185500
HP:0031654	Abnormal pulmonary valve physiology	2006	ELN	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	2006	ELN	OMIM:194050
HP:0031654	Abnormal pulmonary valve physiology	2324	FLT4	OMIM:618780
HP:0031654	Abnormal pulmonary valve physiology	3490	IGFBP7	OMIM:614224
HP:0031654	Abnormal pulmonary valve physiology	57514	ARHGAP31	OMIM:100300
HP:0031654	Abnormal pulmonary valve physiology	6804	STX1A	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	7461	CLIP2	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	84277	DNAJC30	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	8468	FKBP6	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	5982	RFC2	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	2969	GTF2I	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	3984	LIMK1	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	9569	GTF2IRD1	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	155382	VPS37D	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	155368	METTL27	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	114049	BUD23	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	7458	EIF4H	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	84163	GTF2IRD2	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	9275	BCL7B	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	26608	TBL2	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	653361	NCF1	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	135886	TMEM270	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	51085	MLXIPL	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	51085	MLXIPL	OMIM:194050
HP:0031654	Abnormal pulmonary valve physiology	9031	BAZ1B	ORPHA:904
HP:0031654	Abnormal pulmonary valve physiology	8452	CUL3	OMIM:619239
HP:0031654	Abnormal pulmonary valve physiology	2218	FKTN	OMIM:253800
HP:0031654	Abnormal pulmonary valve physiology	5781	PTPN11	ORPHA:500
HP:0031654	Abnormal pulmonary valve physiology	5781	PTPN11	OMIM:151100
HP:0031654	Abnormal pulmonary valve physiology	5781	PTPN11	OMIM:163950
HP:0031654	Abnormal pulmonary valve physiology	23137	SMC5	OMIM:620185
HP:0031654	Abnormal pulmonary valve physiology	25915	NDUFAF3	ORPHA:70474
HP:0031654	Abnormal pulmonary valve physiology	4714	NDUFB8	ORPHA:70474
HP:0031654	Abnormal pulmonary valve physiology	4720	NDUFS2	ORPHA:70474
HP:0031654	Abnormal pulmonary valve physiology	9997	SCO2	ORPHA:70474
HP:0031654	Abnormal pulmonary valve physiology	6834	SURF1	ORPHA:70474
HP:0031654	Abnormal pulmonary valve physiology	2200	FBN1	OMIM:608328
HP:0031654	Abnormal pulmonary valve physiology	2200	FBN1	ORPHA:3449
HP:0031654	Abnormal pulmonary valve physiology	54880	BCOR	OMIM:300166
HP:0031654	Abnormal pulmonary valve physiology	374879	ZNF699	OMIM:619488
HP:0031654	Abnormal pulmonary valve physiology	51715	RAB23	OMIM:201000
HP:0031654	Abnormal pulmonary valve physiology	90416	CCDC32	OMIM:619123
HP:0031654	Abnormal pulmonary valve physiology	79633	FAT4	ORPHA:314679
HP:0031654	Abnormal pulmonary valve physiology	8642	DCHS1	ORPHA:314679
HP:0031654	Abnormal pulmonary valve physiology	11128	POLR3A	ORPHA:3455
HP:0031654	Abnormal pulmonary valve physiology	11107	PRDM5	ORPHA:90354
HP:0031654	Abnormal pulmonary valve physiology	84627	ZNF469	ORPHA:90354
HP:0031654	Abnormal pulmonary valve physiology	51322	WAC	ORPHA:284169
HP:0031654	Abnormal pulmonary valve physiology	84905	ZNF341	OMIM:618282
HP:0031654	Abnormal pulmonary valve physiology	9897	WASHC5	OMIM:220210
HP:0031654	Abnormal pulmonary valve physiology	9897	WASHC5	ORPHA:7
HP:0031654	Abnormal pulmonary valve physiology	4256	MGP	OMIM:245150
HP:0031654	Abnormal pulmonary valve physiology	9652	SKIC3	OMIM:222470
HP:0031654	Abnormal pulmonary valve physiology	650	BMP2	OMIM:617877
HP:0031654	Abnormal pulmonary valve physiology	4053	LTBP2	ORPHA:3449
HP:0031654	Abnormal pulmonary valve physiology	4053	LTBP2	OMIM:614819
HP:0031654	Abnormal pulmonary valve physiology	4851	NOTCH1	OMIM:616028
HP:0031654	Abnormal pulmonary valve physiology	5167	ENPP1	OMIM:613312
HP:0031654	Abnormal pulmonary valve physiology	5885	RAD21	OMIM:611376
HP:0031654	Abnormal pulmonary valve physiology	7994	KAT6A	OMIM:616268
HP:0031654	Abnormal pulmonary valve physiology	4087	SMAD2	OMIM:619657
HP:0031654	Abnormal pulmonary valve physiology	1107	CHD3	OMIM:618205
HP:0031654	Abnormal pulmonary valve physiology	4853	NOTCH2	OMIM:610205
HP:0031654	Abnormal pulmonary valve physiology	701	BUB1B	OMIM:257300
HP:0031654	Abnormal pulmonary valve physiology	3756	KCNH1	OMIM:611816
HP:0031654	Abnormal pulmonary valve physiology	28952	CCDC22	ORPHA:7
HP:0031654	Abnormal pulmonary valve physiology	27161	AGO2	OMIM:619149
HP:0031654	Abnormal pulmonary valve physiology	54361	WNT4	ORPHA:139466
HP:0031654	Abnormal pulmonary valve physiology	6155	RPL27	OMIM:617408
HP:0031654	Abnormal pulmonary valve physiology	6655	SOS2	OMIM:616559
HP:0031654	Abnormal pulmonary valve physiology	2719	GPC3	OMIM:312870
HP:0031654	Abnormal pulmonary valve physiology	2239	GPC4	OMIM:312870
HP:0031654	Abnormal pulmonary valve physiology	100128908	CIROP	OMIM:619702
HP:0031654	Abnormal pulmonary valve physiology	1828	DSG1	OMIM:615508
HP:0031654	Abnormal pulmonary valve physiology	161742	SPRED1	ORPHA:137605
HP:0031654	Abnormal pulmonary valve physiology	6654	SOS1	OMIM:610733
HP:0031654	Abnormal pulmonary valve physiology	4038	LRP4	OMIM:212780
HP:0031654	Abnormal pulmonary valve physiology	27034	ACAD8	ORPHA:79159
HP:0031654	Abnormal pulmonary valve physiology	100	ADA	ORPHA:277
HP:0031654	Abnormal pulmonary valve physiology	79158	GNPTAB	ORPHA:576
HP:0031654	Abnormal pulmonary valve physiology	2294	FOXF1	OMIM:265380
HP:0031654	Abnormal pulmonary valve physiology	2316	FLNA	ORPHA:555877
HP:0031654	Abnormal pulmonary valve physiology	221496	LEMD2	OMIM:619322
HP:0031654	Abnormal pulmonary valve physiology	10112	KIF20A	OMIM:619433
HP:0031654	Abnormal pulmonary valve physiology	1278	COL1A2	ORPHA:230851
HP:0031654	Abnormal pulmonary valve physiology	1278	COL1A2	OMIM:166210
HP:0031654	Abnormal pulmonary valve physiology	30008	EFEMP2	OMIM:614437
HP:0031654	Abnormal pulmonary valve physiology	83544	DNAL1	OMIM:614017
HP:0031654	Abnormal pulmonary valve physiology	1277	COL1A1	OMIM:166210
HP:0031654	Abnormal pulmonary valve physiology	6440	SFTPC	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	729238	SFTPA2	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	79991	STN1	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	653509	SFTPA1	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	21	ABCA3	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	1832	DSP	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	727897	MUC5B	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	10144	FAM13A	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	23250	ATP11A	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	91039	DPP9	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	51750	RTEL1	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	7012	TERC	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	5073	PARN	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	7015	TERT	ORPHA:2032
HP:0031654	Abnormal pulmonary valve physiology	171019	ADAMTS19	OMIM:620067
HP:0031654	Abnormal pulmonary valve physiology	27130	INVS	OMIM:602088
HP:0031654	Abnormal pulmonary valve physiology	411	ARSB	OMIM:253200
HP:0031654	Abnormal pulmonary valve physiology	84231	TRAF7	OMIM:618164
HP:0031654	Abnormal pulmonary valve physiology	5337	PLD1	OMIM:212093
HP:0031654	Abnormal pulmonary valve physiology	92002	CCNQ	OMIM:300707
HP:0031655	Quadricuspid aortic valve	7148	TNXB	OMIM:606408
HP:0031656	Systolic anterior motion of the mitral valve	4633	MYL2	OMIM:608758
HP:0031656	Systolic anterior motion of the mitral valve	54800	KLHL24	OMIM:620236
HP:0031656	Systolic anterior motion of the mitral valve	80206	FHOD3	OMIM:619402
HP:0031657	Abnormal heart sound	3949	LDLR	ORPHA:391665
HP:0031657	Abnormal heart sound	255738	PCSK9	ORPHA:391665
HP:0031657	Abnormal heart sound	26119	LDLRAP1	ORPHA:391665
HP:0031657	Abnormal heart sound	338	APOB	ORPHA:391665
HP:0031657	Abnormal heart sound	64240	ABCG5	ORPHA:391665
HP:0031657	Abnormal heart sound	64241	ABCG8	ORPHA:391665
HP:0031657	Abnormal heart sound	6711	SPTBN1	OMIM:619475
HP:0031657	Abnormal heart sound	3423	IDS	ORPHA:217085
HP:0031657	Abnormal heart sound	3423	IDS	ORPHA:217093
HP:0031657	Abnormal heart sound	23394	ADNP	OMIM:615873
HP:0031657	Abnormal heart sound	5828	PEX2	OMIM:614866
HP:0031657	Abnormal heart sound	291	SLC25A4	OMIM:615418
HP:0031657	Abnormal heart sound	171019	ADAMTS19	OMIM:620067
HP:0031657	Abnormal heart sound	2200	FBN1	ORPHA:284979
HP:0031657	Abnormal heart sound	10283	CWC27	ORPHA:166035
HP:0031657	Abnormal heart sound	9896	FIG4	OMIM:216340
HP:0031657	Abnormal heart sound	5932	RBBP8	OMIM:606744
HP:0031657	Abnormal heart sound	1656	DDX6	OMIM:618653
HP:0031657	Abnormal heart sound	2548	GAA	ORPHA:308552
HP:0031657	Abnormal heart sound	29998	BICRA	OMIM:619325
HP:0031657	Abnormal heart sound	23152	CIC	OMIM:617600
HP:0031657	Abnormal heart sound	6595	SMARCA2	ORPHA:2728
HP:0031657	Abnormal heart sound	5573	PRKAR1A	ORPHA:615
HP:0031657	Abnormal heart sound	6392	SDHD	ORPHA:100093
HP:0031657	Abnormal heart sound	4851	NOTCH1	ORPHA:402075
HP:0031657	Abnormal heart sound	1482	NKX2-5	ORPHA:402075
HP:0031657	Abnormal heart sound	140628	GATA5	ORPHA:402075
HP:0031657	Abnormal heart sound	4091	SMAD6	ORPHA:402075
HP:0031657	Abnormal heart sound	79158	GNPTAB	OMIM:252500
HP:0031657	Abnormal heart sound	7092	TLL1	ORPHA:99106
HP:0031657	Abnormal heart sound	4625	MYH7	OMIM:255160
HP:0031657	Abnormal heart sound	10370	CITED2	ORPHA:99105
HP:0031657	Abnormal heart sound	57057	TBX20	ORPHA:99103
HP:0031657	Abnormal heart sound	4624	MYH6	ORPHA:99103
HP:0031657	Abnormal heart sound	70	ACTC1	ORPHA:99103
HP:0031657	Abnormal heart sound	2626	GATA4	ORPHA:99103
HP:0031657	Abnormal heart sound	2627	GATA6	ORPHA:99103
HP:0031657	Abnormal heart sound	54914	FOCAD	OMIM:619991
HP:0031657	Abnormal heart sound	7291	TWIST1	OMIM:123100
HP:0031657	Abnormal heart sound	54916	TMEM260	OMIM:617478
HP:0031657	Abnormal heart sound	659	BMPR2	OMIM:265450
HP:0031657	Abnormal heart sound	4093	SMAD9	OMIM:615342
HP:0031661	Abnormal second heart sound	7092	TLL1	ORPHA:99106
HP:0031661	Abnormal second heart sound	10370	CITED2	ORPHA:99105
HP:0031661	Abnormal second heart sound	659	BMPR2	OMIM:265450
HP:0031661	Abnormal second heart sound	4093	SMAD9	OMIM:615342
HP:0031662	Fixed splitting of the second heart sound	7092	TLL1	ORPHA:99106
HP:0031663	Paradoxical splitting of the second heart sound	10370	CITED2	ORPHA:99105
HP:0031664	Systolic heart murmur	7092	TLL1	ORPHA:99103
HP:0031664	Systolic heart murmur	7092	TLL1	ORPHA:99106
HP:0031664	Systolic heart murmur	57057	TBX20	ORPHA:99103
HP:0031664	Systolic heart murmur	4624	MYH6	ORPHA:99103
HP:0031664	Systolic heart murmur	1482	NKX2-5	ORPHA:99103
HP:0031664	Systolic heart murmur	70	ACTC1	ORPHA:99103
HP:0031664	Systolic heart murmur	10370	CITED2	ORPHA:99103
HP:0031664	Systolic heart murmur	10370	CITED2	ORPHA:99105
HP:0031664	Systolic heart murmur	2626	GATA4	ORPHA:99103
HP:0031664	Systolic heart murmur	2627	GATA6	ORPHA:99103
HP:0031664	Systolic heart murmur	54914	FOCAD	OMIM:619991
HP:0031664	Systolic heart murmur	7291	TWIST1	OMIM:123100
HP:0031664	Systolic heart murmur	54916	TMEM260	OMIM:617478
HP:0031664	Systolic heart murmur	171019	ADAMTS19	OMIM:620067
HP:0034180	Fusion of the caudate and putamen	10381	TUBB3	OMIM:614039
HP:0034184	Increased insulin like growth factor binding protein acid labile subunit concentration	60676	PAPPA2	OMIM:619489
HP:0034185	Median pseudocleft lip	79971	WLS	OMIM:619648
HP:0034185	Median pseudocleft lip	8364	H4C3	OMIM:619758
HP:0034187	Clavicular pseudarthrosis	55777	MBD5	OMIM:156200
HP:0034187	Clavicular pseudarthrosis	59341	TRPV4	OMIM:156530
HP:0034188	Midline liver	93	ACVR2B	OMIM:613751
HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity	7068	THRB	OMIM:274300
HP:0031676	Monomorphic ventricular tachycardia	442721	LMOD2	OMIM:619897
HP:0031677	Polymorphic ventricular tachycardia	805	CALM2	OMIM:616249
HP:0031677	Polymorphic ventricular tachycardia	10345	TRDN	OMIM:615441
HP:0031677	Polymorphic ventricular tachycardia	3762	KCNJ5	ORPHA:37553
HP:0031677	Polymorphic ventricular tachycardia	3759	KCNJ2	ORPHA:37553
HP:0031677	Polymorphic ventricular tachycardia	845	CASQ2	OMIM:611938
HP:0031677	Polymorphic ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0031678	Atherosclerotic lesion	348	APOE	ORPHA:412
HP:0031684	Renal artery atherosclerosis	57104	PNPLA2	ORPHA:565612
HP:0031687	Abnormally loud pulmonic component of the second heart sound	659	BMPR2	OMIM:265450
HP:0031687	Abnormally loud pulmonic component of the second heart sound	4093	SMAD9	OMIM:615342
HP:0031687	Abnormally loud pulmonic component of the second heart sound	7092	TLL1	ORPHA:99106
HP:0034190	Abnormal fetal cardiovascular physiology	7386	UQCRFS1	OMIM:618775
HP:0034192	Pulmonary thromboembolism	4625	MYH7	OMIM:613426
HP:0034193	Stratum basale cleavage	3691	ITGB4	OMIM:619816
HP:0034193	Stratum basale cleavage	3861	KRT14	OMIM:601001
HP:0034193	Stratum basale cleavage	3861	KRT14	OMIM:131800
HP:0034193	Stratum basale cleavage	3861	KRT14	OMIM:131760
HP:0034193	Stratum basale cleavage	3852	KRT5	OMIM:619555
HP:0034193	Stratum basale cleavage	3852	KRT5	OMIM:131760
HP:0034193	Stratum basale cleavage	5339	PLEC	OMIM:616487
HP:0034194	Suprabasal cleavage	3861	KRT14	OMIM:131900
HP:0034197	Third trimester onset	342035	GLDN	OMIM:617194
HP:0034197	Third trimester onset	54345	SOX18	OMIM:607823
HP:0034197	Third trimester onset	80347	COASY	OMIM:618266
HP:0034197	Third trimester onset	51422	PRKAG2	OMIM:261740
HP:0034197	Third trimester onset	112	ADCY6	OMIM:616287
HP:0034197	Third trimester onset	54539	NDUFB11	OMIM:300952
HP:0034197	Third trimester onset	8506	CNTNAP1	OMIM:616286
HP:0034197	Third trimester onset	9631	NUP155	OMIM:615770
HP:0034197	Third trimester onset	5530	PPP3CA	OMIM:618265
HP:0034197	Third trimester onset	55503	TRPV6	OMIM:618188
HP:0034197	Third trimester onset	5831	PYCR1	OMIM:612940
HP:0034197	Third trimester onset	8777	MPDZ	OMIM:615219
HP:0034197	Third trimester onset	6154	RPL26	OMIM:614900
HP:0034197	Third trimester onset	57211	ADGRG6	OMIM:616503
HP:0034197	Third trimester onset	9757	KMT2B	OMIM:619934
HP:0034197	Third trimester onset	10269	ZMPSTE24	OMIM:275210
HP:0034197	Third trimester onset	51343	FZR1	OMIM:620145
HP:0034197	Third trimester onset	54675	CRLS1	OMIM:620167
HP:0034197	Third trimester onset	8085	KMT2D	OMIM:620186
HP:0034197	Third trimester onset	23299	BICD2	OMIM:618291
HP:0034197	Third trimester onset	56945	MRPS22	OMIM:611719
HP:0034197	Third trimester onset	57538	ALPK3	OMIM:618052
HP:0034197	Third trimester onset	9401	RECQL4	OMIM:218600
HP:0034197	Third trimester onset	197131	UBR1	OMIM:243800
HP:0034197	Third trimester onset	2187	FANCB	OMIM:314390
HP:0034197	Third trimester onset	7547	ZIC3	OMIM:314390
HP:0034197	Third trimester onset	6616	SNAP25	OMIM:616330
HP:0034197	Third trimester onset	6389	SDHA	OMIM:613642
HP:0034197	Third trimester onset	8792	TNFRSF11A	OMIM:602080
HP:0034197	Third trimester onset	84197	POMK	OMIM:615249
HP:0034197	Third trimester onset	5340	PLG	OMIM:217090
HP:0034197	Third trimester onset	55164	SHQ1	OMIM:619922
HP:0034197	Third trimester onset	29969	MDFIC	OMIM:620014
HP:0034197	Third trimester onset	871	SERPINH1	OMIM:613848
HP:0034197	Third trimester onset	9837	GINS1	OMIM:617827
HP:0034197	Third trimester onset	56052	ALG1	OMIM:608540
HP:0034198	Second trimester onset	745	MYRF	OMIM:618280
HP:0034198	Second trimester onset	2261	FGFR3	OMIM:187601
HP:0034198	Second trimester onset	2271	FH	OMIM:606812
HP:0034198	Second trimester onset	9321	TRIP11	OMIM:200600
HP:0034198	Second trimester onset	3376	IARS1	OMIM:617093
HP:0034198	Second trimester onset	80347	COASY	OMIM:618266
HP:0034198	Second trimester onset	9928	KIF14	OMIM:617914
HP:0034198	Second trimester onset	9928	KIF14	OMIM:616258
HP:0034198	Second trimester onset	440193	CCDC88C	OMIM:236600
HP:0034198	Second trimester onset	90993	CREB3L1	OMIM:616229
HP:0034198	Second trimester onset	57211	ADGRG6	OMIM:616503
HP:0034198	Second trimester onset	284086	NEK8	OMIM:615415
HP:0034198	Second trimester onset	79770	TXNDC15	OMIM:619879
HP:0034198	Second trimester onset	7490	WT1	OMIM:194080
HP:0034198	Second trimester onset	55901	THSD1	OMIM:620244
HP:0034198	Second trimester onset	8085	KMT2D	OMIM:620186
HP:0034198	Second trimester onset	64220	STRA6	OMIM:601186
HP:0034198	Second trimester onset	6331	SCN5A	OMIM:603830
HP:0034198	Second trimester onset	23299	BICD2	OMIM:618291
HP:0034198	Second trimester onset	4927	NUP88	OMIM:618393
HP:0034198	Second trimester onset	57538	ALPK3	OMIM:618052
HP:0034198	Second trimester onset	9401	RECQL4	OMIM:218600
HP:0034198	Second trimester onset	3897	L1CAM	OMIM:304100
HP:0034198	Second trimester onset	1280	COL2A1	OMIM:200610
HP:0034198	Second trimester onset	2073	ERCC5	OMIM:616570
HP:0034198	Second trimester onset	54903	MKS1	OMIM:249000
HP:0034198	Second trimester onset	11041	B4GAT1	OMIM:615287
HP:0034198	Second trimester onset	23426	GRIP1	OMIM:617667
HP:0034198	Second trimester onset	6023	RMRP	OMIM:607095
HP:0034198	Second trimester onset	2674	GFRA1	OMIM:619887
HP:0034198	Second trimester onset	26123	TCTN3	OMIM:614815
HP:0034198	Second trimester onset	25942	SIN3A	OMIM:613406
HP:0034198	Second trimester onset	4713	NDUFB7	OMIM:620135
HP:0034198	Second trimester onset	29969	MDFIC	OMIM:620014
HP:0034198	Second trimester onset	60386	SLC25A19	OMIM:607196
HP:0034198	Second trimester onset	6862	TBXT	OMIM:615709
HP:0034198	Second trimester onset	168667	BMPER	OMIM:608022
HP:0034199	Late first trimester onset	2261	FGFR3	OMIM:187601
HP:0034199	Late first trimester onset	79770	TXNDC15	OMIM:619879
HP:0034199	Late first trimester onset	27077	B9D1	OMIM:614209
HP:0034199	Late first trimester onset	8085	KMT2D	OMIM:620186
HP:0034199	Late first trimester onset	6862	TBXT	OMIM:615709
HP:0034199	Late first trimester onset	168667	BMPER	OMIM:608022
HP:0031688	Erythroid dysplasia	114803	MYSM1	ORPHA:508542
HP:0031688	Erythroid dysplasia	7317	UBA1	OMIM:301054
HP:0031688	Erythroid dysplasia	6573	SLC19A1	OMIM:601775
HP:0031688	Erythroid dysplasia	51428	DDX41	OMIM:616871
HP:0031689	Megakaryocyte dysplasia	54809	SAMD9	OMIM:619041
HP:0031689	Megakaryocyte dysplasia	114803	MYSM1	ORPHA:508542
HP:0031689	Megakaryocyte dysplasia	4627	MYH9	OMIM:155100
HP:0031689	Megakaryocyte dysplasia	7317	UBA1	OMIM:301054
HP:0031689	Megakaryocyte dysplasia	55159	RFWD3	OMIM:617784
HP:0031690	Opportunistic infection	100	ADA	ORPHA:277
HP:0031690	Opportunistic infection	3561	IL2RG	ORPHA:276
HP:0031690	Opportunistic infection	4860	PNP	OMIM:613179
HP:0031690	Opportunistic infection	5896	RAG1	OMIM:601457
HP:0031690	Opportunistic infection	5897	RAG2	OMIM:601457
HP:0031690	Opportunistic infection	55651	NHP2	OMIM:613987
HP:0031690	Opportunistic infection	64421	DCLRE1C	ORPHA:275
HP:0031690	Opportunistic infection	7535	ZAP70	ORPHA:911
HP:0031690	Opportunistic infection	3575	IL7R	OMIM:608971
HP:0031690	Opportunistic infection	3718	JAK3	ORPHA:35078
HP:0031690	Opportunistic infection	51311	TLR8	OMIM:301078
HP:0031690	Opportunistic infection	9841	ZBTB24	OMIM:614069
HP:0031690	Opportunistic infection	50615	IL21R	OMIM:615207
HP:0031690	Opportunistic infection	84433	CARD11	OMIM:615206
HP:0031690	Opportunistic infection	1991	ELANE	ORPHA:2686
HP:0031690	Opportunistic infection	4153	MBL2	OMIM:614372
HP:0031690	Opportunistic infection	3594	IL12RB1	ORPHA:319552
HP:0031690	Opportunistic infection	6772	STAT1	OMIM:614162
HP:0031690	Opportunistic infection	6804	STX1A	ORPHA:586
HP:0031690	Opportunistic infection	2947	GSTM3	ORPHA:586
HP:0031690	Opportunistic infection	7040	TGFB1	ORPHA:586
HP:0031690	Opportunistic infection	2729	GCLC	ORPHA:586
HP:0031690	Opportunistic infection	1084	CEACAM3	ORPHA:586
HP:0031690	Opportunistic infection	6556	SLC11A1	ORPHA:586
HP:0031690	Opportunistic infection	51164	DCTN4	ORPHA:586
HP:0031690	Opportunistic infection	3783	KCNN4	ORPHA:586
HP:0031690	Opportunistic infection	4282	MIF	ORPHA:586
HP:0031690	Opportunistic infection	1909	EDNRA	ORPHA:586
HP:0031690	Opportunistic infection	6550	SLC9A3	ORPHA:586
HP:0031690	Opportunistic infection	3162	HMOX1	ORPHA:586
HP:0031690	Opportunistic infection	115019	SLC26A9	ORPHA:586
HP:0031690	Opportunistic infection	3077	HFE	ORPHA:586
HP:0031690	Opportunistic infection	11254	SLC6A14	ORPHA:586
HP:0031690	Opportunistic infection	5265	SERPINA1	ORPHA:586
HP:0031690	Opportunistic infection	1080	CFTR	ORPHA:586
HP:0031690	Opportunistic infection	22802	CLCA4	ORPHA:586
HP:0031690	Opportunistic infection	4680	CEACAM6	ORPHA:586
HP:0031690	Opportunistic infection	219972	MPEG1	OMIM:619223
HP:0031690	Opportunistic infection	1536	CYBB	OMIM:300645
HP:0031690	Opportunistic infection	3514	IGKC	ORPHA:183675
HP:0031690	Opportunistic infection	3501	IGHG2	ORPHA:183675
HP:0031690	Opportunistic infection	57169	ZNFX1	OMIM:619644
HP:0031690	Opportunistic infection	8517	IKBKG	OMIM:300636
HP:0031690	Opportunistic infection	84905	ZNF341	OMIM:618282
HP:0031690	Opportunistic infection	5293	PIK3CD	OMIM:619281
HP:0031690	Opportunistic infection	84818	IL17RC	OMIM:616445
HP:0031690	Opportunistic infection	959	CD40LG	OMIM:308230
HP:0031691	Severe viral infection	57169	ZNFX1	OMIM:619644
HP:0031691	Severe viral infection	135	ADORA2A	ORPHA:363549
HP:0031691	Severe viral infection	9636	ISG15	OMIM:616126
HP:0031691	Severe viral infection	6773	STAT2	OMIM:616636
HP:0031691	Severe viral infection	915	CD3D	OMIM:615617
HP:0031691	Severe viral infection	84433	CARD11	OMIM:617638
HP:0031691	Severe viral infection	55388	MCM10	OMIM:619313
HP:0031691	Severe viral infection	8517	IKBKG	OMIM:300291
HP:0031691	Severe viral infection	50619	DEF6	OMIM:619573
HP:0031691	Severe viral infection	1777	DNASE2	OMIM:619858
HP:0031691	Severe viral infection	331	XIAP	OMIM:308240
HP:0031691	Severe viral infection	4068	SH2D1A	OMIM:308240
HP:0031691	Severe viral infection	641	BLM	ORPHA:125
HP:0031691	Severe viral infection	970	CD70	OMIM:618261
HP:0031691	Severe viral infection	84061	MAGT1	OMIM:300853
HP:0031691	Severe viral infection	7040	TGFB1	OMIM:618213
HP:0031691	Severe viral infection	939	CD27	OMIM:615122
HP:0031691	Severe viral infection	28755	TRAC	OMIM:615387
HP:0031691	Severe viral infection	1503	CTPS1	OMIM:615897
HP:0031691	Severe viral infection	1794	DOCK2	OMIM:616433
HP:0031691	Severe viral infection	5880	RAC2	OMIM:618986
HP:0031691	Severe viral infection	5238	PGM3	OMIM:615816
HP:0031691	Severe viral infection	54440	SASH3	OMIM:301082
HP:0031691	Severe viral infection	2214	FCGR3A	OMIM:615707
HP:0031691	Severe viral infection	3559	IL2RA	OMIM:606367
HP:0031691	Severe viral infection	27040	LAT	OMIM:617514
HP:0031691	Severe viral infection	5295	PIK3R1	OMIM:616005
HP:0031691	Severe viral infection	5966	REL	OMIM:619652
HP:0031691	Severe viral infection	7174	TPP2	OMIM:619220
HP:0031691	Severe viral infection	3560	IL2RB	OMIM:618495
HP:0031691	Severe viral infection	51284	TLR7	OMIM:301051
HP:0031691	Severe viral infection	3665	IRF7	OMIM:616345
HP:0031692	Severe cytomegalovirus infection	84433	CARD11	OMIM:617638
HP:0031692	Severe cytomegalovirus infection	55388	MCM10	OMIM:619313
HP:0031692	Severe cytomegalovirus infection	8517	IKBKG	OMIM:300291
HP:0031692	Severe cytomegalovirus infection	50619	DEF6	OMIM:619573
HP:0031692	Severe cytomegalovirus infection	27040	LAT	OMIM:617514
HP:0031692	Severe cytomegalovirus infection	5295	PIK3R1	OMIM:616005
HP:0031692	Severe cytomegalovirus infection	5966	REL	OMIM:619652
HP:0031692	Severe cytomegalovirus infection	84061	MAGT1	OMIM:300853
HP:0031692	Severe cytomegalovirus infection	7174	TPP2	OMIM:619220
HP:0031692	Severe cytomegalovirus infection	3560	IL2RB	OMIM:618495
HP:0031693	Severe Epstein Barr virus infection	1777	DNASE2	OMIM:619858
HP:0031693	Severe Epstein Barr virus infection	331	XIAP	OMIM:308240
HP:0031693	Severe Epstein Barr virus infection	4068	SH2D1A	OMIM:308240
HP:0020087	BCGosis	6097	RORC	OMIM:616622
HP:0020087	BCGosis	3458	IFNG	OMIM:618963
HP:0020087	BCGosis	1536	CYBB	OMIM:300645
HP:0020087	BCGosis	30009	TBX21	OMIM:619630
HP:0020087	BCGosis	5966	REL	OMIM:619652
HP:0020087	BCGosis	3594	IL12RB1	ORPHA:319552
HP:0020087	BCGosis	57169	ZNFX1	OMIM:619644
HP:0031699	Disseminated cryptosporidium infection	4153	MBL2	OMIM:614372
HP:0500001	Body odor	2328	FMO3	ORPHA:468726
HP:0500001	Body odor	29958	DMGDH	ORPHA:243343
HP:0500001	Body odor	29958	DMGDH	OMIM:605850
HP:0500001	Body odor	38	ACAT1	ORPHA:134
HP:0500001	Body odor	83550	GPR101	OMIM:300942
HP:0500005	Anal pain	6335	SCN9A	OMIM:167400
HP:0500007	Iris flocculi	59	ACTA2	OMIM:611788
HP:0500009	Dysplastic gangliocytoma of the cerebellum	5728	PTEN	OMIM:158350
HP:0500009	Dysplastic gangliocytoma of the cerebellum	100144748	KLLN	OMIM:615107
HP:0005807	Absent distal phalanges	9241	NOG	OMIM:186500
HP:0005807	Absent distal phalanges	3930	LBR	OMIM:215140
HP:0005807	Absent distal phalanges	29957	SLC25A24	OMIM:612289
HP:0005807	Absent distal phalanges	7048	TGFBR2	OMIM:610168
HP:0005807	Absent distal phalanges	1147	CHUK	OMIM:619339
HP:0005807	Absent distal phalanges	3782	KCNN3	OMIM:618658
HP:0005807	Absent distal phalanges	57572	DOCK6	OMIM:614219
HP:0500011	Moon facies	5566	PRKACA	OMIM:615830
HP:0500011	Moon facies	5566	PRKACA	ORPHA:189439
HP:0500011	Moon facies	79798	ARMC5	ORPHA:189427
HP:0500011	Moon facies	2778	GNAS	ORPHA:189427
HP:0500011	Moon facies	8622	PDE8B	ORPHA:189439
HP:0500011	Moon facies	5573	PRKAR1A	ORPHA:189439
HP:0500011	Moon facies	5573	PRKAR1A	ORPHA:1359
HP:0500011	Moon facies	50940	PDE11A	ORPHA:189439
HP:0500011	Moon facies	50940	PDE11A	ORPHA:1359
HP:0500011	Moon facies	84196	USP48	ORPHA:96253
HP:0500011	Moon facies	7157	TP53	ORPHA:96253
HP:0500011	Moon facies	9101	USP8	ORPHA:96253
HP:0500011	Moon facies	64072	CDH23	ORPHA:96253
HP:0500011	Moon facies	2908	NR3C1	ORPHA:96253
HP:0500011	Moon facies	673	BRAF	ORPHA:96253
HP:0500011	Moon facies	546	ATRX	ORPHA:96253
HP:0500011	Moon facies	8367	H4C5	OMIM:619950
HP:0500011	Moon facies	64131	XYLT1	ORPHA:370930
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	3730	ANOS1	OMIM:308700
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	3730	ANOS1	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	79625	NDNF	OMIM:618841
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	79625	NDNF	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	2260	FGFR1	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	10371	SEMA3A	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	81848	SPRY4	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	23767	FLRT3	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	128674	PROKR2	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	2253	FGF8	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	389549	FEZF1	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	1630	DCC	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	54756	IL17RD	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	6663	SOX10	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	285025	CCDC141	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	60675	PROK2	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	55636	CHD7	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	1848	DUSP6	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	6870	TACR3	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	55717	WDR11	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	9394	HS6ST1	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	8820	HESX1	ORPHA:478
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	8822	FGF17	ORPHA:478
HP:0500015	Abnormal cardiac test	6840	SVIL	OMIM:619040
HP:0500015	Abnormal cardiac test	1829	DSG2	OMIM:610193
HP:0500015	Abnormal cardiac test	6331	SCN5A	ORPHA:1344
HP:0500015	Abnormal cardiac test	4878	NPPA	ORPHA:1344
HP:0500015	Abnormal cardiac test	7276	TTR	ORPHA:85451
HP:0500015	Abnormal cardiac test	801	CALM1	ORPHA:101016
HP:0500015	Abnormal cardiac test	3753	KCNE1	ORPHA:101016
HP:0500015	Abnormal cardiac test	3762	KCNJ5	ORPHA:101016
HP:0500015	Abnormal cardiac test	805	CALM2	ORPHA:101016
HP:0500015	Abnormal cardiac test	6910	TBX5	ORPHA:101016
HP:0500015	Abnormal cardiac test	6336	SCN10A	ORPHA:101016
HP:0500015	Abnormal cardiac test	3757	KCNH2	ORPHA:101016
HP:0500015	Abnormal cardiac test	9992	KCNE2	ORPHA:101016
HP:0500015	Abnormal cardiac test	10142	AKAP9	ORPHA:101016
HP:0500015	Abnormal cardiac test	9722	NOS1AP	ORPHA:101016
HP:0500015	Abnormal cardiac test	775	CACNA1C	ORPHA:101016
HP:0500015	Abnormal cardiac test	3784	KCNQ1	ORPHA:101016
HP:0500015	Abnormal cardiac test	10345	TRDN	ORPHA:101016
HP:0500015	Abnormal cardiac test	6330	SCN4B	ORPHA:101016
HP:0500015	Abnormal cardiac test	808	CALM3	ORPHA:101016
HP:0500015	Abnormal cardiac test	6640	SNTA1	ORPHA:101016
HP:0500015	Abnormal cardiac test	859	CAV3	ORPHA:101016
HP:0500015	Abnormal cardiac test	287	ANK2	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	801	CALM1	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	3753	KCNE1	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	3762	KCNJ5	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	805	CALM2	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	6910	TBX5	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	6336	SCN10A	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	3757	KCNH2	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	9992	KCNE2	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	10142	AKAP9	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	9722	NOS1AP	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	775	CACNA1C	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	3784	KCNQ1	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	10345	TRDN	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	6331	SCN5A	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	6330	SCN4B	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	808	CALM3	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	6640	SNTA1	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	859	CAV3	ORPHA:101016
HP:0500018	Abnormal cardiac exercise stress test	287	ANK2	ORPHA:101016
HP:0010713	1-5 toe syndactyly	2737	GLI3	OMIM:174700
HP:0005817	Postaxial polysyndactyly of foot	83479	DDX59	ORPHA:2919
HP:0005817	Postaxial polysyndactyly of foot	4750	NEK1	OMIM:263520
HP:0500020	Abnormal cardiac biomarker test	6840	SVIL	OMIM:619040
HP:0500020	Abnormal cardiac biomarker test	1829	DSG2	OMIM:610193
HP:0500020	Abnormal cardiac biomarker test	6331	SCN5A	ORPHA:1344
HP:0500020	Abnormal cardiac biomarker test	4878	NPPA	ORPHA:1344
HP:0500020	Abnormal cardiac biomarker test	7276	TTR	ORPHA:85451
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	56246	MRAP	ORPHA:361
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	6770	STAR	ORPHA:361
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	4158	MC2R	ORPHA:361
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	23530	NNT	ORPHA:361
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	10587	TXNRD2	ORPHA:361
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	5573	PRKAR1A	OMIM:610489
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	5447	POR	OMIM:201750
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	3284	HSD3B2	OMIM:201810
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	54361	WNT4	OMIM:158330
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	1586	CYP17A1	ORPHA:90793
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	84133	ZNRF3	ORPHA:1501
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	7157	TP53	ORPHA:1501
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	1499	CTNNB1	ORPHA:1501
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	1029	CDKN2A	ORPHA:1501
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	7015	TERT	ORPHA:1501
HP:0005824	Clinodactyly of the 2nd toe	10236	HNRNPR	OMIM:620073
HP:0004692	4-5 toe syndactyly	3239	HOXD13	OMIM:186000
HP:0004692	4-5 toe syndactyly	3239	HOXD13	OMIM:186300
HP:0004692	4-5 toe syndactyly	6299	SALL1	OMIM:107480
HP:0004692	4-5 toe syndactyly	4613	MYCN	ORPHA:391641
HP:0004692	4-5 toe syndactyly	4613	MYCN	OMIM:164280
HP:0004692	4-5 toe syndactyly	51776	MAP3K20	OMIM:616890
HP:0004692	4-5 toe syndactyly	51776	MAP3K20	ORPHA:488232
HP:0004692	4-5 toe syndactyly	6913	TBX15	OMIM:260660
HP:0004692	4-5 toe syndactyly	54888	NSUN2	OMIM:611091
HP:0004692	4-5 toe syndactyly	50814	NSDHL	OMIM:308050
HP:0004692	4-5 toe syndactyly	92002	CCNQ	OMIM:300707
HP:0004692	4-5 toe syndactyly	81607	NECTIN4	OMIM:613573
HP:0004692	4-5 toe syndactyly	79583	TMEM231	OMIM:614970
HP:0004692	4-5 toe syndactyly	9894	TELO2	ORPHA:488642
HP:0004692	4-5 toe syndactyly	5932	RBBP8	OMIM:251255
HP:0500030	Abnormal hepatic glycogen storage	5236	PGM1	OMIM:614921
HP:0500030	Abnormal hepatic glycogen storage	5261	PHKG2	OMIM:613027
HP:0500030	Abnormal hepatic glycogen storage	3172	HNF4A	ORPHA:263455
HP:0500030	Abnormal hepatic glycogen storage	5836	PYGL	OMIM:232700
HP:0500030	Abnormal hepatic glycogen storage	5836	PYGL	ORPHA:369
HP:0500030	Abnormal hepatic glycogen storage	208	AKT2	ORPHA:293964
HP:0500030	Abnormal hepatic glycogen storage	5257	PHKB	OMIM:261750
HP:0500030	Abnormal hepatic glycogen storage	10667	FARS2	OMIM:614946
HP:0500030	Abnormal hepatic glycogen storage	6389	SDHA	OMIM:619259
HP:0500030	Abnormal hepatic glycogen storage	54914	FOCAD	OMIM:619991
HP:0500030	Abnormal hepatic glycogen storage	2542	SLC37A4	ORPHA:79259
HP:0500030	Abnormal hepatic glycogen storage	6514	SLC2A2	ORPHA:2088
HP:0500033	Abnormal natural killer subset distribution	3718	JAK3	OMIM:600802
HP:0500033	Abnormal natural killer subset distribution	3718	JAK3	ORPHA:35078
HP:0500033	Abnormal natural killer subset distribution	9837	GINS1	OMIM:617827
HP:0005831	Type B brachydactyly	9241	NOG	ORPHA:140908
HP:0005831	Type B brachydactyly	4920	ROR2	OMIM:113000
HP:0005832	Dysharmonic delayed bone age	80152	CENPT	OMIM:618702
HP:0005897	Severe generalized osteoporosis	1277	COL1A1	OMIM:259420
HP:0005897	Severe generalized osteoporosis	1278	COL1A2	OMIM:259420
HP:0500041	Myopic astigmatism	7407	VARS1	OMIM:617802
HP:0500041	Myopic astigmatism	1261	CNGA3	OMIM:216900
HP:0500041	Myopic astigmatism	7030	TFE3	OMIM:301066
HP:0500041	Myopic astigmatism	23162	MAPK8IP3	OMIM:618443
HP:0500041	Myopic astigmatism	1278	COL1A2	ORPHA:230851
HP:0500041	Myopic astigmatism	388552	BLOC1S3	OMIM:614077
HP:0500041	Myopic astigmatism	3832	KIF11	OMIM:152950
HP:0500041	Myopic astigmatism	10093	ARPC4	OMIM:620141
HP:0500043	Eyelid retraction	6452	SH3BP2	OMIM:118400
HP:0500046	Seborrhoeic blepharitis	7390	UROS	ORPHA:79277
HP:0500046	Seborrhoeic blepharitis	2623	GATA1	ORPHA:79277
HP:0500046	Seborrhoeic blepharitis	7389	UROD	ORPHA:95159
HP:0500049	Retinopathy of prematurity	55901	THSD1	OMIM:620244
HP:0005841	Calcific stippling of infantile cartilaginous skeleton	5191	PEX7	OMIM:215100
HP:0003084	Fractures of the long bones	6904	TBCD	ORPHA:496641
HP:0003084	Fractures of the long bones	8878	SQSTM1	OMIM:167250
HP:0003084	Fractures of the long bones	8792	TNFRSF11A	OMIM:602080
HP:0003084	Fractures of the long bones	4507	MTAP	OMIM:112250
HP:0003084	Fractures of the long bones	1186	CLCN7	OMIM:166600
HP:0003084	Fractures of the long bones	202018	TAPT1	OMIM:616897
HP:0003084	Fractures of the long bones	3930	LBR	OMIM:215140
HP:0003084	Fractures of the long bones	55503	TRPV6	OMIM:618188
HP:0005852	Limited elbow extension and supination	9968	MED12	ORPHA:93932
HP:0005852	Limited elbow extension and supination	7474	WNT5A	OMIM:180700
HP:0005852	Limited elbow extension and supination	1855	DVL1	OMIM:180700
HP:0005853	Congenital foot contraction deformities	23299	BICD2	ORPHA:363454
HP:0100800	Aplasia/Hypoplasia of the pancreas	2627	GATA6	OMIM:600001
HP:0100800	Aplasia/Hypoplasia of the pancreas	2627	GATA6	ORPHA:2255
HP:0100800	Aplasia/Hypoplasia of the pancreas	3767	KCNJ11	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3767	KCNJ11	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	8462	KLF11	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	2645	GCK	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	2645	GCK	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	26060	APPL1	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	640	BLK	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	1056	CEL	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	4760	NEUROD1	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3651	PDX1	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3651	PDX1	OMIM:260370
HP:0100800	Aplasia/Hypoplasia of the pancreas	3651	PDX1	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	6833	ABCC8	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	6833	ABCC8	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	5078	PAX4	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3172	HNF4A	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	6927	HNF1A	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3630	INS	ORPHA:552
HP:0100800	Aplasia/Hypoplasia of the pancreas	3630	INS	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	55315	SLC29A3	OMIM:602782
HP:0100800	Aplasia/Hypoplasia of the pancreas	6928	HNF1B	OMIM:137920
HP:0100800	Aplasia/Hypoplasia of the pancreas	54914	FOCAD	OMIM:619991
HP:0100800	Aplasia/Hypoplasia of the pancreas	222546	RFX6	OMIM:615710
HP:0100800	Aplasia/Hypoplasia of the pancreas	169792	GLIS3	OMIM:610199
HP:0100800	Aplasia/Hypoplasia of the pancreas	256297	PTF1A	OMIM:615935
HP:0100800	Aplasia/Hypoplasia of the pancreas	256297	PTF1A	OMIM:609069
HP:0100800	Aplasia/Hypoplasia of the pancreas	6774	STAT3	ORPHA:99885
HP:0100800	Aplasia/Hypoplasia of the pancreas	134218	DNAJC21	ORPHA:811
HP:0100800	Aplasia/Hypoplasia of the pancreas	79631	EFL1	ORPHA:811
HP:0100800	Aplasia/Hypoplasia of the pancreas	51119	SBDS	ORPHA:811
HP:0100800	Aplasia/Hypoplasia of the pancreas	6729	SRP54	ORPHA:811
HP:0100800	Aplasia/Hypoplasia of the pancreas	51651	PTRH2	ORPHA:456312
HP:0100800	Aplasia/Hypoplasia of the pancreas	64220	STRA6	ORPHA:2470
HP:0100800	Aplasia/Hypoplasia of the pancreas	5915	RARB	ORPHA:2470
HP:0100800	Aplasia/Hypoplasia of the pancreas	23019	CNOT1	ORPHA:556955
HP:0100800	Aplasia/Hypoplasia of the pancreas	23019	CNOT1	OMIM:618500
HP:0100800	Aplasia/Hypoplasia of the pancreas	3975	LHX1	ORPHA:261265
HP:0100801	Pancreatic aplasia	3651	PDX1	OMIM:260370
HP:0100801	Pancreatic aplasia	2627	GATA6	ORPHA:2255
HP:0100801	Pancreatic aplasia	23019	CNOT1	ORPHA:556955
HP:0100801	Pancreatic aplasia	23019	CNOT1	OMIM:618500
HP:0100801	Pancreatic aplasia	256297	PTF1A	OMIM:615935
HP:0100801	Pancreatic aplasia	256297	PTF1A	OMIM:609069
HP:0100801	Pancreatic aplasia	3975	LHX1	ORPHA:261265
HP:0100801	Pancreatic aplasia	6928	HNF1B	ORPHA:261265
HP:0100802	Malposition of the stomach	10526	IPO8	OMIM:619472
HP:0100803	Abnormality of the periungual region	6774	STAT3	ORPHA:2314
HP:0100803	Abnormality of the periungual region	3909	LAMA3	ORPHA:79404
HP:0100803	Abnormality of the periungual region	3918	LAMC2	ORPHA:79404
HP:0100803	Abnormality of the periungual region	3914	LAMB3	ORPHA:79404
HP:0100803	Abnormality of the periungual region	641	BLM	ORPHA:125
HP:0100803	Abnormality of the periungual region	55630	SLC39A4	ORPHA:37
HP:0100803	Abnormality of the periungual region	55630	SLC39A4	OMIM:201100
HP:0100803	Abnormality of the periungual region	6868	ADAM17	OMIM:614328
HP:0100803	Abnormality of the periungual region	54463	RETREG1	OMIM:201300
HP:0100803	Abnormality of the periungual region	65125	WNK1	OMIM:201300
HP:0100803	Abnormality of the periungual region	6335	SCN9A	OMIM:201300
HP:0100803	Abnormality of the periungual region	547	KIF1A	OMIM:201300
HP:0100803	Abnormality of the periungual region	3868	KRT16	ORPHA:2309
HP:0100803	Abnormality of the periungual region	3872	KRT17	ORPHA:2309
HP:0100803	Abnormality of the periungual region	3853	KRT6A	ORPHA:2309
HP:0100803	Abnormality of the periungual region	3854	KRT6B	ORPHA:2309
HP:0100803	Abnormality of the periungual region	1053	CEBPE	OMIM:260570
HP:0100803	Abnormality of the periungual region	51360	MBTPS2	OMIM:308205
HP:0100803	Abnormality of the periungual region	340061	STING1	OMIM:615934
HP:0100803	Abnormality of the periungual region	4791	NFKB2	ORPHA:293978
HP:0100803	Abnormality of the periungual region	3458	IFNG	ORPHA:805
HP:0100803	Abnormality of the periungual region	7248	TSC1	ORPHA:805
HP:0100803	Abnormality of the periungual region	7248	TSC1	ORPHA:538
HP:0100803	Abnormality of the periungual region	7249	TSC2	ORPHA:805
HP:0100803	Abnormality of the periungual region	7249	TSC2	ORPHA:538
HP:0100804	Ungual fibroma	3458	IFNG	ORPHA:805
HP:0100804	Ungual fibroma	7248	TSC1	ORPHA:805
HP:0100804	Ungual fibroma	7248	TSC1	ORPHA:538
HP:0100804	Ungual fibroma	7249	TSC2	ORPHA:805
HP:0100804	Ungual fibroma	7249	TSC2	ORPHA:538
HP:0100806	Sepsis	3575	IL7R	ORPHA:169154
HP:0100806	Sepsis	92579	G6PC3	OMIM:612541
HP:0100806	Sepsis	25839	COG4	ORPHA:263501
HP:0100806	Sepsis	84947	SERAC1	OMIM:614739
HP:0100806	Sepsis	3561	IL2RG	ORPHA:276
HP:0100806	Sepsis	3561	IL2RG	ORPHA:39041
HP:0100806	Sepsis	4594	MMUT	ORPHA:289916
HP:0100806	Sepsis	4791	NFKB2	ORPHA:293978
HP:0100806	Sepsis	695	BTK	OMIM:300755
HP:0100806	Sepsis	695	BTK	ORPHA:47
HP:0100806	Sepsis	5238	PGM3	ORPHA:443811
HP:0100806	Sepsis	5880	RAC2	OMIM:618986
HP:0100806	Sepsis	987	LRBA	OMIM:614700
HP:0100806	Sepsis	959	CD40LG	OMIM:308230
HP:0100806	Sepsis	3909	LAMA3	ORPHA:79404
HP:0100806	Sepsis	3918	LAMC2	ORPHA:79404
HP:0100806	Sepsis	3914	LAMB3	ORPHA:79404
HP:0100806	Sepsis	215	ABCD1	ORPHA:388
HP:0100806	Sepsis	5979	RET	ORPHA:388
HP:0100806	Sepsis	2668	GDNF	ORPHA:388
HP:0100806	Sepsis	6608	SMO	ORPHA:388
HP:0100806	Sepsis	1889	ECE1	ORPHA:388
HP:0100806	Sepsis	6720	SREBF1	ORPHA:388
HP:0100806	Sepsis	1908	EDN3	ORPHA:388
HP:0100806	Sepsis	223117	SEMA3D	ORPHA:388
HP:0100806	Sepsis	538	ATP7A	ORPHA:388
HP:0100806	Sepsis	538	ATP7A	ORPHA:565
HP:0100806	Sepsis	1910	EDNRB	ORPHA:388
HP:0100806	Sepsis	10512	SEMA3C	ORPHA:388
HP:0100806	Sepsis	2064	ERBB2	ORPHA:388
HP:0100806	Sepsis	2065	ERBB3	ORPHA:388
HP:0100806	Sepsis	4902	NRTN	ORPHA:388
HP:0100806	Sepsis	939	CD27	OMIM:615122
HP:0100806	Sepsis	3162	HMOX1	OMIM:614034
HP:0100806	Sepsis	10525	HYOU1	OMIM:233600
HP:0100806	Sepsis	65082	VPS33A	OMIM:617303
HP:0100806	Sepsis	65082	VPS33A	ORPHA:505248
HP:0100806	Sepsis	1536	CYBB	ORPHA:379
HP:0100806	Sepsis	4688	NCF2	ORPHA:379
HP:0100806	Sepsis	1535	CYBA	ORPHA:379
HP:0100806	Sepsis	4689	NCF4	ORPHA:379
HP:0100806	Sepsis	653361	NCF1	ORPHA:379
HP:0100806	Sepsis	79415	CYBC1	ORPHA:379
HP:0100806	Sepsis	1991	ELANE	ORPHA:2686
HP:0100806	Sepsis	134218	DNAJC21	ORPHA:811
HP:0100806	Sepsis	79631	EFL1	ORPHA:811
HP:0100806	Sepsis	51119	SBDS	ORPHA:811
HP:0100806	Sepsis	6729	SRP54	ORPHA:811
HP:0100806	Sepsis	3417	IDH1	ORPHA:99646
HP:0100806	Sepsis	2592	GALT	ORPHA:79239
HP:0100806	Sepsis	3106	HLA-B	ORPHA:36426
HP:0100806	Sepsis	10320	IKZF1	ORPHA:36426
HP:0100806	Sepsis	1351	COX8A	OMIM:619059
HP:0100806	Sepsis	7037	TFRC	OMIM:616740
HP:0100806	Sepsis	4615	MYD88	OMIM:612260
HP:0100806	Sepsis	50619	DEF6	OMIM:619573
HP:0100806	Sepsis	1493	CTLA4	OMIM:616100
HP:0100806	Sepsis	130589	GALM	ORPHA:570422
HP:0100806	Sepsis	7852	CXCR4	ORPHA:51636
HP:0100806	Sepsis	151516	ASPRV1	ORPHA:313
HP:0100806	Sepsis	242	ALOX12B	ORPHA:313
HP:0100806	Sepsis	126410	CYP4F22	ORPHA:313
HP:0100806	Sepsis	6820	SULT2B1	ORPHA:313
HP:0100806	Sepsis	26154	ABCA12	ORPHA:313
HP:0100806	Sepsis	643418	LIPN	ORPHA:313
HP:0100806	Sepsis	59344	ALOXE3	ORPHA:313
HP:0100806	Sepsis	348938	NIPAL4	ORPHA:313
HP:0100806	Sepsis	121214	SDR9C7	ORPHA:313
HP:0100806	Sepsis	7051	TGM1	ORPHA:313
HP:0100806	Sepsis	10804	GJB6	ORPHA:477
HP:0100806	Sepsis	2706	GJB2	ORPHA:477
HP:0100806	Sepsis	1499	CTNNB1	ORPHA:873
HP:0100806	Sepsis	324	APC	ORPHA:873
HP:0100806	Sepsis	7454	WAS	OMIM:301000
HP:0100806	Sepsis	7454	WAS	ORPHA:906
HP:0100806	Sepsis	10664	CTCF	ORPHA:363611
HP:0100806	Sepsis	54809	SAMD9	OMIM:617053
HP:0100806	Sepsis	3852	KRT5	OMIM:619599
HP:0100806	Sepsis	3852	KRT5	ORPHA:79396
HP:0100806	Sepsis	54914	FOCAD	OMIM:619991
HP:0100806	Sepsis	83706	FERMT3	OMIM:612840
HP:0100806	Sepsis	7456	WIPF1	ORPHA:906
HP:0100806	Sepsis	54440	SASH3	OMIM:301082
HP:0100806	Sepsis	6023	RMRP	ORPHA:39041
HP:0100806	Sepsis	55636	CHD7	ORPHA:39041
HP:0100806	Sepsis	3981	LIG4	ORPHA:39041
HP:0100806	Sepsis	5896	RAG1	ORPHA:39041
HP:0100806	Sepsis	5896	RAG1	ORPHA:231154
HP:0100806	Sepsis	5897	RAG2	ORPHA:39041
HP:0100806	Sepsis	64421	DCLRE1C	ORPHA:39041
HP:0100806	Sepsis	64421	DCLRE1C	OMIM:602450
HP:0100806	Sepsis	100	ADA	ORPHA:39041
HP:0100806	Sepsis	56052	ALG1	ORPHA:79327
HP:0100806	Sepsis	25802	LMOD1	OMIM:619362
HP:0100806	Sepsis	25802	LMOD1	ORPHA:2241
HP:0100806	Sepsis	11005	SPINK5	OMIM:256500
HP:0100806	Sepsis	4629	MYH11	ORPHA:2241
HP:0100806	Sepsis	72	ACTG2	ORPHA:2241
HP:0100806	Sepsis	4638	MYLK	ORPHA:2241
HP:0100806	Sepsis	2215	FCGR3B	ORPHA:464370
HP:0100806	Sepsis	5317	PKP1	ORPHA:158668
HP:0100806	Sepsis	6603	SMARCD2	OMIM:617475
HP:0100806	Sepsis	204	AK2	OMIM:267500
HP:0100806	Sepsis	204	AK2	ORPHA:33355
HP:0100806	Sepsis	8565	YARS1	OMIM:619418
HP:0100806	Sepsis	57591	MRTFA	OMIM:618847
HP:0100806	Sepsis	50943	FOXP3	ORPHA:37042
HP:0100806	Sepsis	5824	PEX19	OMIM:614886
HP:0100806	Sepsis	3110	MNX1	OMIM:176450
HP:0100806	Sepsis	3514	IGKC	ORPHA:183675
HP:0100806	Sepsis	3501	IGHG2	ORPHA:183675
HP:0100806	Sepsis	79087	ALG12	ORPHA:79324
HP:0100806	Sepsis	11277	TREX1	ORPHA:247691
HP:0100806	Sepsis	11342	RNF13	ORPHA:544503
HP:0100806	Sepsis	3861	KRT14	ORPHA:79396
HP:0100806	Sepsis	6440	SFTPC	ORPHA:70587
HP:0100806	Sepsis	21	ABCA3	ORPHA:70587
HP:0100806	Sepsis	6439	SFTPB	ORPHA:70587
HP:0100806	Sepsis	6929	TCF3	ORPHA:33110
HP:0100806	Sepsis	973	CD79A	ORPHA:33110
HP:0100806	Sepsis	974	CD79B	ORPHA:33110
HP:0100806	Sepsis	3543	IGLL1	ORPHA:33110
HP:0100806	Sepsis	3507	IGHM	ORPHA:33110
HP:0100806	Sepsis	29760	BLNK	ORPHA:33110
HP:0100806	Sepsis	5295	PIK3R1	ORPHA:33110
HP:0100806	Sepsis	56262	LRRC8A	ORPHA:33110
HP:0100808	Gastric diverticulum	54894	RNF43	ORPHA:157798
HP:0100809	Scalp tenderness	4488	MSX2	ORPHA:60015
HP:0100809	Scalp tenderness	60529	ALX4	ORPHA:60015
HP:0001155	Abnormality of the hand	83932	SPRTN	OMIM:616200
HP:0001155	Abnormality of the hand	8425	LTBP4	OMIM:613177
HP:0001155	Abnormality of the hand	6228	RPS23	OMIM:617412
HP:0001155	Abnormality of the hand	51506	UFC1	OMIM:618076
HP:0001155	Abnormality of the hand	6812	STXBP1	ORPHA:495818
HP:0001155	Abnormality of the hand	84987	COX14	OMIM:619053
HP:0001155	Abnormality of the hand	54453	RIN2	OMIM:613075
HP:0001155	Abnormality of the hand	3899	AFF3	OMIM:619297
HP:0001155	Abnormality of the hand	114034	TOE1	OMIM:614969
HP:0001155	Abnormality of the hand	5442	POLRMT	OMIM:619743
HP:0001155	Abnormality of the hand	132158	GLYCTK	OMIM:220120
HP:0001155	Abnormality of the hand	55148	UBR7	OMIM:619189
HP:0001155	Abnormality of the hand	4591	TRIM37	OMIM:253250
HP:0001155	Abnormality of the hand	1349	COX7B	OMIM:309801
HP:0001155	Abnormality of the hand	3052	HCCS	OMIM:309801
HP:0001155	Abnormality of the hand	54539	NDUFB11	OMIM:309801
HP:0001155	Abnormality of the hand	5828	PEX2	OMIM:614866
HP:0001155	Abnormality of the hand	23137	SMC5	OMIM:620185
HP:0001155	Abnormality of the hand	27086	FOXP1	ORPHA:391372
HP:0001155	Abnormality of the hand	6878	TAF6	OMIM:617126
HP:0001155	Abnormality of the hand	3720	JARID2	OMIM:620098
HP:0001155	Abnormality of the hand	5193	PEX12	OMIM:266510
HP:0001155	Abnormality of the hand	6418	SET	OMIM:618106
HP:0001155	Abnormality of the hand	5515	PPP2CA	OMIM:618354
HP:0001155	Abnormality of the hand	23097	CDK19	OMIM:618916
HP:0001155	Abnormality of the hand	5530	PPP3CA	OMIM:617711
HP:0001155	Abnormality of the hand	80746	TSEN2	OMIM:612389
HP:0001155	Abnormality of the hand	5160	PDHA1	ORPHA:79243
HP:0001155	Abnormality of the hand	57187	THOC2	ORPHA:457240
HP:0001155	Abnormality of the hand	4329	ALDH6A1	OMIM:614105
HP:0001155	Abnormality of the hand	55617	TASP1	OMIM:618950
HP:0001155	Abnormality of the hand	83737	ITCH	OMIM:613385
HP:0001155	Abnormality of the hand	1748	DLX4	OMIM:616788
HP:0001155	Abnormality of the hand	738	VPS51	OMIM:618606
HP:0001155	Abnormality of the hand	51594	NBAS	OMIM:614800
HP:0001155	Abnormality of the hand	3858	KRT10	OMIM:607602
HP:0001155	Abnormality of the hand	3858	KRT10	OMIM:609165
HP:0001155	Abnormality of the hand	121214	SDR9C7	OMIM:617574
HP:0001155	Abnormality of the hand	55651	NHP2	OMIM:224230
HP:0001155	Abnormality of the hand	55505	NOP10	OMIM:224230
HP:0001155	Abnormality of the hand	121391	KRT74	OMIM:194300
HP:0001155	Abnormality of the hand	7373	COL14A1	ORPHA:79501
HP:0001155	Abnormality of the hand	57511	COG6	ORPHA:363523
HP:0001155	Abnormality of the hand	57511	COG6	OMIM:615328
HP:0001155	Abnormality of the hand	22861	NLRP1	OMIM:617388
HP:0001155	Abnormality of the hand	5818	NECTIN1	ORPHA:3253
HP:0001155	Abnormality of the hand	5818	NECTIN1	OMIM:225060
HP:0001155	Abnormality of the hand	3889	KRT83	OMIM:617756
HP:0001155	Abnormality of the hand	7286	TUFT1	OMIM:607655
HP:0001155	Abnormality of the hand	9015	TAF1A	ORPHA:154
HP:0001155	Abnormality of the hand	5663	PSEN1	ORPHA:154
HP:0001155	Abnormality of the hand	6389	SDHA	ORPHA:154
HP:0001155	Abnormality of the hand	7112	TMPO	ORPHA:154
HP:0001155	Abnormality of the hand	9464	HAND2	ORPHA:154
HP:0001155	Abnormality of the hand	88	ACTN2	ORPHA:154
HP:0001155	Abnormality of the hand	10486	CAP2	ORPHA:154
HP:0001155	Abnormality of the hand	7168	TPM1	ORPHA:154
HP:0001155	Abnormality of the hand	7414	VCL	ORPHA:154
HP:0001155	Abnormality of the hand	70	ACTC1	ORPHA:154
HP:0001155	Abnormality of the hand	27063	ANKRD1	ORPHA:154
HP:0001155	Abnormality of the hand	8048	CSRP3	ORPHA:154
HP:0001155	Abnormality of the hand	1410	CRYAB	ORPHA:154
HP:0001155	Abnormality of the hand	7139	TNNT2	ORPHA:154
HP:0001155	Abnormality of the hand	1829	DSG2	ORPHA:154
HP:0001155	Abnormality of the hand	3910	LAMA4	ORPHA:154
HP:0001155	Abnormality of the hand	10587	TXNRD2	ORPHA:154
HP:0001155	Abnormality of the hand	9531	BAG3	ORPHA:154
HP:0001155	Abnormality of the hand	5350	PLN	ORPHA:154
HP:0001155	Abnormality of the hand	91624	NEXN	ORPHA:154
HP:0001155	Abnormality of the hand	79717	PPCS	ORPHA:154
HP:0001155	Abnormality of the hand	5664	PSEN2	ORPHA:154
HP:0001155	Abnormality of the hand	4624	MYH6	ORPHA:154
HP:0001155	Abnormality of the hand	9529	BAG5	ORPHA:154
HP:0001155	Abnormality of the hand	4607	MYBPC3	ORPHA:154
HP:0001155	Abnormality of the hand	282996	RBM20	ORPHA:154
HP:0001155	Abnormality of the hand	7137	TNNI3	ORPHA:154
HP:0001155	Abnormality of the hand	2274	FHL2	ORPHA:154
HP:0001155	Abnormality of the hand	6901	TAFAZZIN	ORPHA:154
HP:0001155	Abnormality of the hand	22845	DOLK	ORPHA:154
HP:0001155	Abnormality of the hand	1756	DMD	ORPHA:154
HP:0001155	Abnormality of the hand	57798	GATAD1	ORPHA:154
HP:0001155	Abnormality of the hand	7134	TNNC1	ORPHA:154
HP:0001155	Abnormality of the hand	84665	MYPN	ORPHA:154
HP:0001155	Abnormality of the hand	1674	DES	ORPHA:154
HP:0001155	Abnormality of the hand	6444	SGCD	ORPHA:154
HP:0001155	Abnormality of the hand	6331	SCN5A	ORPHA:154
HP:0001155	Abnormality of the hand	8557	TCAP	ORPHA:154
HP:0001155	Abnormality of the hand	79092	CARD14	OMIM:173200
HP:0001155	Abnormality of the hand	79092	CARD14	ORPHA:2897
HP:0001155	Abnormality of the hand	79650	USB1	OMIM:604173
HP:0001155	Abnormality of the hand	79650	USB1	ORPHA:1775
HP:0001155	Abnormality of the hand	162	AP1B1	OMIM:242150
HP:0001155	Abnormality of the hand	4574	MT-TS1	ORPHA:2202
HP:0001155	Abnormality of the hand	1824	DSC2	OMIM:610476
HP:0001155	Abnormality of the hand	3849	KRT2	ORPHA:455
HP:0001155	Abnormality of the hand	6898	TAT	ORPHA:28378
HP:0001155	Abnormality of the hand	10483	SEC23B	ORPHA:201
HP:0001155	Abnormality of the hand	6392	SDHD	ORPHA:201
HP:0001155	Abnormality of the hand	205717	USF3	ORPHA:201
HP:0001155	Abnormality of the hand	100144748	KLLN	ORPHA:201
HP:0001155	Abnormality of the hand	285848	PNPLA1	OMIM:615024
HP:0001155	Abnormality of the hand	285848	PNPLA1	ORPHA:79394
HP:0001155	Abnormality of the hand	23328	SASH1	OMIM:618373
HP:0001155	Abnormality of the hand	1474	CST6	OMIM:618535
HP:0001155	Abnormality of the hand	412	STS	OMIM:308100
HP:0001155	Abnormality of the hand	54795	TRPM4	ORPHA:316
HP:0001155	Abnormality of the hand	242	ALOX12B	OMIM:242100
HP:0001155	Abnormality of the hand	242	ALOX12B	ORPHA:79394
HP:0001155	Abnormality of the hand	59344	ALOXE3	OMIM:242100
HP:0001155	Abnormality of the hand	59344	ALOXE3	OMIM:606545
HP:0001155	Abnormality of the hand	59344	ALOXE3	ORPHA:79394
HP:0001155	Abnormality of the hand	126410	CYP4F22	OMIM:604777
HP:0001155	Abnormality of the hand	348938	NIPAL4	OMIM:612281
HP:0001155	Abnormality of the hand	348938	NIPAL4	ORPHA:79394
HP:0001155	Abnormality of the hand	25959	KANK2	OMIM:616099
HP:0001155	Abnormality of the hand	57192	MCOLN1	ORPHA:578
HP:0001155	Abnormality of the hand	1493	CTLA4	ORPHA:3162
HP:0001155	Abnormality of the hand	940	CD28	ORPHA:3162
HP:0001155	Abnormality of the hand	7133	TNFRSF1B	ORPHA:3162
HP:0001155	Abnormality of the hand	79977	GRHL2	OMIM:616029
HP:0001155	Abnormality of the hand	286887	KRT6C	OMIM:615735
HP:0001155	Abnormality of the hand	79644	SRD5A3	ORPHA:324737
HP:0001155	Abnormality of the hand	80169	CTC1	ORPHA:1775
HP:0001155	Abnormality of the hand	26277	TINF2	ORPHA:1775
HP:0001155	Abnormality of the hand	55135	WRAP53	ORPHA:1775
HP:0001155	Abnormality of the hand	4869	NPM1	ORPHA:1775
HP:0001155	Abnormality of the hand	1736	DKC1	ORPHA:1775
HP:0001155	Abnormality of the hand	204219	CERS3	ORPHA:79394
HP:0001155	Abnormality of the hand	7298	TYMS	OMIM:620040
HP:0001155	Abnormality of the hand	1593	CYP27A1	ORPHA:909
HP:0001155	Abnormality of the hand	7355	SLC35A2	ORPHA:356961
HP:0001155	Abnormality of the hand	540	ATP7B	ORPHA:905
HP:0001155	Abnormality of the hand	56983	POGLUT1	ORPHA:79145
HP:0001155	Abnormality of the hand	3852	KRT5	ORPHA:79145
HP:0001155	Abnormality of the hand	23509	POFUT1	ORPHA:79145
HP:0001155	Abnormality of the hand	55851	PSENEN	ORPHA:79145
HP:0001155	Abnormality of the hand	6775	STAT4	ORPHA:85408
HP:0001155	Abnormality of the hand	3560	IL2RB	ORPHA:85408
HP:0001155	Abnormality of the hand	79722	ANKRD55	ORPHA:85408
HP:0001155	Abnormality of the hand	26191	PTPN22	ORPHA:85408
HP:0001155	Abnormality of the hand	919	CD247	ORPHA:85408
HP:0001155	Abnormality of the hand	3559	IL2RA	ORPHA:85408
HP:0001155	Abnormality of the hand	5771	PTPN2	ORPHA:85408
HP:0001155	Abnormality of the hand	57152	SLURP1	ORPHA:87503
HP:0001155	Abnormality of the hand	9993	DGCR2	OMIM:192430
HP:0001155	Abnormality of the hand	8220	ESS2	OMIM:192430
HP:0001155	Abnormality of the hand	8214	DGCR6	OMIM:192430
HP:0001155	Abnormality of the hand	54487	DGCR8	OMIM:192430
HP:0001155	Abnormality of the hand	5428	POLG	ORPHA:298
HP:0001155	Abnormality of the hand	1890	TYMP	ORPHA:298
HP:0001155	Abnormality of the hand	3980	LIG3	ORPHA:298
HP:0001155	Abnormality of the hand	50484	RRM2B	ORPHA:298
HP:0001155	Abnormality of the hand	84572	GNPTG	OMIM:252605
HP:0001155	Abnormality of the hand	51360	MBTPS2	ORPHA:2273
HP:0001155	Abnormality of the hand	2717	GLA	OMIM:301500
HP:0001155	Abnormality of the hand	22930	RAB3GAP1	ORPHA:1387
HP:0001155	Abnormality of the hand	25782	RAB3GAP2	ORPHA:1387
HP:0001155	Abnormality of the hand	4210	MEFV	ORPHA:3243
HP:0001155	Abnormality of the hand	7840	ALMS1	OMIM:203800
HP:0001155	Abnormality of the hand	23389	MED13L	ORPHA:369891
HP:0001155	Abnormality of the hand	10804	GJB6	OMIM:129500
HP:0001155	Abnormality of the hand	3098	HK1	ORPHA:99953
HP:0001155	Abnormality of the hand	51651	PTRH2	ORPHA:456312
HP:0001155	Abnormality of the hand	7305	TYROBP	OMIM:221770
HP:0001155	Abnormality of the hand	9927	MFN2	ORPHA:99947
HP:0001155	Abnormality of the hand	54806	AHI1	ORPHA:475
HP:0001155	Abnormality of the hand	54806	AHI1	ORPHA:220493
HP:0001155	Abnormality of the hand	200894	ARL13B	ORPHA:475
HP:0001155	Abnormality of the hand	9731	CEP104	ORPHA:475
HP:0001155	Abnormality of the hand	23247	KATNIP	ORPHA:475
HP:0001155	Abnormality of the hand	219854	TMEM218	ORPHA:475
HP:0001155	Abnormality of the hand	95681	CEP41	ORPHA:475
HP:0001155	Abnormality of the hand	95681	CEP41	ORPHA:220493
HP:0001155	Abnormality of the hand	9786	KIAA0586	ORPHA:475
HP:0001155	Abnormality of the hand	10464	PIBF1	ORPHA:475
HP:0001155	Abnormality of the hand	23116	TOGARAM1	ORPHA:475
HP:0001155	Abnormality of the hand	25776	CBY1	ORPHA:475
HP:0001155	Abnormality of the hand	403	ARL3	ORPHA:475
HP:0001155	Abnormality of the hand	10682	EBP	ORPHA:401973
HP:0001155	Abnormality of the hand	5626	PROP1	ORPHA:226307
HP:0001155	Abnormality of the hand	89884	LHX4	ORPHA:226307
HP:0001155	Abnormality of the hand	8022	LHX3	ORPHA:226307
HP:0001155	Abnormality of the hand	5449	POU1F1	ORPHA:226307
HP:0001155	Abnormality of the hand	8820	HESX1	ORPHA:226307
HP:0001155	Abnormality of the hand	5290	PIK3CA	ORPHA:60040
HP:0001155	Abnormality of the hand	51	ACOX1	ORPHA:2971
HP:0001155	Abnormality of the hand	7547	ZIC3	OMIM:314390
HP:0001155	Abnormality of the hand	26154	ABCA12	ORPHA:457
HP:0001155	Abnormality of the hand	8241	RBM10	ORPHA:2886
HP:0001155	Abnormality of the hand	51524	TMEM138	ORPHA:2318
HP:0001155	Abnormality of the hand	23090	ZNF423	ORPHA:2318
HP:0001155	Abnormality of the hand	10210	TOPORS	ORPHA:2754
HP:0001155	Abnormality of the hand	317662	FAM149B1	ORPHA:2754
HP:0001155	Abnormality of the hand	9897	WASHC5	ORPHA:7
HP:0001155	Abnormality of the hand	5566	PRKACA	ORPHA:289
HP:0001155	Abnormality of the hand	2313	FLI1	ORPHA:2308
HP:0001155	Abnormality of the hand	6309	SC5D	ORPHA:46059
HP:0001155	Abnormality of the hand	6309	SC5D	OMIM:607330
HP:0001155	Abnormality of the hand	894	CCND2	ORPHA:83473
HP:0001155	Abnormality of the hand	894	CCND2	OMIM:615938
HP:0001155	Abnormality of the hand	5296	PIK3R2	ORPHA:83473
HP:0001155	Abnormality of the hand	10000	AKT3	ORPHA:83473
HP:0001155	Abnormality of the hand	10000	AKT3	OMIM:615937
HP:0001155	Abnormality of the hand	26160	IFT172	OMIM:615630
HP:0001155	Abnormality of the hand	26160	IFT172	ORPHA:474
HP:0001155	Abnormality of the hand	26160	IFT172	OMIM:619471
HP:0001155	Abnormality of the hand	26160	IFT172	ORPHA:110
HP:0001155	Abnormality of the hand	54585	LZTFL1	OMIM:615994
HP:0001155	Abnormality of the hand	54585	LZTFL1	ORPHA:110
HP:0001155	Abnormality of the hand	8195	MKKS	OMIM:236700
HP:0001155	Abnormality of the hand	8195	MKKS	ORPHA:110
HP:0001155	Abnormality of the hand	8195	MKKS	ORPHA:2473
HP:0001155	Abnormality of the hand	56623	INPP5E	OMIM:213300
HP:0001155	Abnormality of the hand	56623	INPP5E	ORPHA:1454
HP:0001155	Abnormality of the hand	55593	OTUD5	OMIM:301056
HP:0001155	Abnormality of the hand	83479	DDX59	OMIM:174300
HP:0001155	Abnormality of the hand	83479	DDX59	ORPHA:2919
HP:0001155	Abnormality of the hand	84100	ARL6	OMIM:209900
HP:0001155	Abnormality of the hand	84100	ARL6	ORPHA:110
HP:0001155	Abnormality of the hand	79140	CCDC28B	OMIM:209900
HP:0001155	Abnormality of the hand	582	BBS1	OMIM:209900
HP:0001155	Abnormality of the hand	582	BBS1	ORPHA:110
HP:0001155	Abnormality of the hand	51057	WDPCP	OMIM:217085
HP:0001155	Abnormality of the hand	51057	WDPCP	ORPHA:110
HP:0001155	Abnormality of the hand	285600	KIAA0825	OMIM:618498
HP:0001155	Abnormality of the hand	5147	PDE6D	OMIM:615665
HP:0001155	Abnormality of the hand	26005	C2CD3	OMIM:615948
HP:0001155	Abnormality of the hand	26005	C2CD3	ORPHA:434179
HP:0001155	Abnormality of the hand	26040	SETBP1	OMIM:269150
HP:0001155	Abnormality of the hand	153241	CEP120	ORPHA:474
HP:0001155	Abnormality of the hand	51626	DYNC2LI1	ORPHA:474
HP:0001155	Abnormality of the hand	51626	DYNC2LI1	OMIM:617088
HP:0001155	Abnormality of the hand	79809	TTC21B	ORPHA:474
HP:0001155	Abnormality of the hand	92482	BBIP1	ORPHA:110
HP:0001155	Abnormality of the hand	11020	IFT27	ORPHA:110
HP:0001155	Abnormality of the hand	49855	SCAPER	ORPHA:110
HP:0001155	Abnormality of the hand	4867	NPHP1	ORPHA:110
HP:0001155	Abnormality of the hand	27241	BBS9	ORPHA:110
HP:0001155	Abnormality of the hand	27241	BBS9	OMIM:615986
HP:0001155	Abnormality of the hand	84984	CEP19	ORPHA:110
HP:0001155	Abnormality of the hand	22954	TRIM32	ORPHA:110
HP:0001155	Abnormality of the hand	79738	BBS10	ORPHA:110
HP:0001155	Abnormality of the hand	123016	TTC8	ORPHA:110
HP:0001155	Abnormality of the hand	583	BBS2	ORPHA:110
HP:0001155	Abnormality of the hand	583	BBS2	OMIM:615981
HP:0001155	Abnormality of the hand	585	BBS4	ORPHA:110
HP:0001155	Abnormality of the hand	55212	BBS7	ORPHA:110
HP:0001155	Abnormality of the hand	166379	BBS12	ORPHA:110
HP:0001155	Abnormality of the hand	166379	BBS12	OMIM:615989
HP:0001155	Abnormality of the hand	10806	SDCCAG8	ORPHA:110
HP:0001155	Abnormality of the hand	157657	CFAP418	ORPHA:110
HP:0001155	Abnormality of the hand	157657	CFAP418	OMIM:617406
HP:0001155	Abnormality of the hand	129880	BBS5	ORPHA:110
HP:0001155	Abnormality of the hand	80173	IFT74	ORPHA:110
HP:0001155	Abnormality of the hand	79005	SCNM1	OMIM:620107
HP:0001155	Abnormality of the hand	2736	GLI2	OMIM:610829
HP:0001155	Abnormality of the hand	80210	ARMC9	OMIM:617622
HP:0001155	Abnormality of the hand	257	ALX3	OMIM:136760
HP:0001155	Abnormality of the hand	23288	IQCE	OMIM:617642
HP:0001155	Abnormality of the hand	137392	CIBAR1	OMIM:618219
HP:0001155	Abnormality of the hand	7700	ZNF141	OMIM:615226
HP:0001155	Abnormality of the hand	9851	KIAA0753	OMIM:617127
HP:0001155	Abnormality of the hand	255758	DYNLT2B	OMIM:617405
HP:0001155	Abnormality of the hand	64132	XYLT2	OMIM:605822
HP:0001155	Abnormality of the hand	4088	SMAD3	ORPHA:284984
HP:0001155	Abnormality of the hand	4088	SMAD3	OMIM:613795
HP:0001155	Abnormality of the hand	4088	SMAD3	ORPHA:91387
HP:0001155	Abnormality of the hand	875	CBS	ORPHA:394
HP:0001155	Abnormality of the hand	875	CBS	OMIM:236200
HP:0001155	Abnormality of the hand	25970	SH2B1	ORPHA:261222
HP:0001155	Abnormality of the hand	199857	ALG14	OMIM:619036
HP:0001155	Abnormality of the hand	1075	CTSC	OMIM:245010
HP:0001155	Abnormality of the hand	1075	CTSC	ORPHA:678
HP:0001155	Abnormality of the hand	5351	PLOD1	OMIM:225400
HP:0001155	Abnormality of the hand	8076	MFAP5	OMIM:616166
HP:0001155	Abnormality of the hand	8076	MFAP5	ORPHA:91387
HP:0001155	Abnormality of the hand	72	ACTG2	ORPHA:2604
HP:0001155	Abnormality of the hand	30008	EFEMP2	OMIM:614437
HP:0001155	Abnormality of the hand	51114	ZDHHC9	ORPHA:776
HP:0001155	Abnormality of the hand	51114	ZDHHC9	OMIM:300799
HP:0001155	Abnormality of the hand	65109	UPF3B	ORPHA:776
HP:0001155	Abnormality of the hand	79693	YRDC	OMIM:619609
HP:0001155	Abnormality of the hand	1146	CHRNG	OMIM:265000
HP:0001155	Abnormality of the hand	2316	FLNA	OMIM:305620
HP:0001155	Abnormality of the hand	284058	KANSL1	ORPHA:363958
HP:0001155	Abnormality of the hand	284058	KANSL1	ORPHA:363965
HP:0001155	Abnormality of the hand	1272	CNTN1	OMIM:612540
HP:0001155	Abnormality of the hand	29920	PYCR2	ORPHA:481152
HP:0001155	Abnormality of the hand	29920	PYCR2	OMIM:616420
HP:0001155	Abnormality of the hand	1312	COMT	ORPHA:567
HP:0001155	Abnormality of the hand	221037	JMJD1C	ORPHA:567
HP:0001155	Abnormality of the hand	2812	GP1BB	ORPHA:567
HP:0001155	Abnormality of the hand	6239	RREB1	ORPHA:567
HP:0001155	Abnormality of the hand	7290	HIRA	ORPHA:567
HP:0001155	Abnormality of the hand	9632	SEC24C	ORPHA:567
HP:0001155	Abnormality of the hand	7353	UFD1	ORPHA:567
HP:0001155	Abnormality of the hand	421	ARVCF	ORPHA:567
HP:0001155	Abnormality of the hand	444	ASPH	OMIM:601552
HP:0001155	Abnormality of the hand	633	BGN	OMIM:300989
HP:0001155	Abnormality of the hand	79576	NKAP	OMIM:301039
HP:0001155	Abnormality of the hand	3188	HNRNPH2	OMIM:300986
HP:0001155	Abnormality of the hand	23152	CIC	OMIM:617600
HP:0001155	Abnormality of the hand	649	BMP1	OMIM:614856
HP:0001155	Abnormality of the hand	165	AEBP1	ORPHA:536532
HP:0001155	Abnormality of the hand	11285	B4GALT7	ORPHA:75496
HP:0001155	Abnormality of the hand	11285	B4GALT7	OMIM:130070
HP:0001155	Abnormality of the hand	10526	IPO8	OMIM:619472
HP:0001155	Abnormality of the hand	10526	IPO8	ORPHA:60030
HP:0001155	Abnormality of the hand	4534	MTM1	OMIM:310400
HP:0001155	Abnormality of the hand	5184	PEPD	ORPHA:742
HP:0001155	Abnormality of the hand	715	C1R	OMIM:130080
HP:0001155	Abnormality of the hand	60676	PAPPA2	OMIM:619489
HP:0001155	Abnormality of the hand	1742	DLG4	OMIM:618793
HP:0001155	Abnormality of the hand	6605	SMARCE1	OMIM:616938
HP:0001155	Abnormality of the hand	11107	PRDM5	ORPHA:90354
HP:0001155	Abnormality of the hand	84627	ZNF469	ORPHA:90354
HP:0001155	Abnormality of the hand	5727	PTCH1	ORPHA:377
HP:0001155	Abnormality of the hand	8643	PTCH2	ORPHA:377
HP:0001155	Abnormality of the hand	51684	SUFU	ORPHA:377
HP:0001155	Abnormality of the hand	4677	NARS1	OMIM:619092
HP:0001155	Abnormality of the hand	6651	SON	ORPHA:500150
HP:0001155	Abnormality of the hand	2193	FARSA	OMIM:619013
HP:0001155	Abnormality of the hand	4087	SMAD2	OMIM:619656
HP:0001155	Abnormality of the hand	4087	SMAD2	ORPHA:91387
HP:0001155	Abnormality of the hand	7048	TGFBR2	OMIM:610168
HP:0001155	Abnormality of the hand	7048	TGFBR2	ORPHA:60030
HP:0001155	Abnormality of the hand	7048	TGFBR2	ORPHA:91387
HP:0001155	Abnormality of the hand	29893	PSMC3IP	ORPHA:243
HP:0001155	Abnormality of the hand	171568	POLR3H	ORPHA:243
HP:0001155	Abnormality of the hand	2516	NR5A1	ORPHA:243
HP:0001155	Abnormality of the hand	125150	ZSWIM7	ORPHA:243
HP:0001155	Abnormality of the hand	9210	BMP15	ORPHA:243
HP:0001155	Abnormality of the hand	23514	SPIDR	ORPHA:243
HP:0001155	Abnormality of the hand	2492	FSHR	ORPHA:243
HP:0001155	Abnormality of the hand	56945	MRPS22	ORPHA:243
HP:0001155	Abnormality of the hand	646	BNC1	ORPHA:243
HP:0001155	Abnormality of the hand	4883	NPR3	OMIM:619543
HP:0001155	Abnormality of the hand	7043	TGFB3	OMIM:615582
HP:0001155	Abnormality of the hand	7043	TGFB3	ORPHA:91387
HP:0001155	Abnormality of the hand	7046	TGFBR1	ORPHA:60030
HP:0001155	Abnormality of the hand	7046	TGFBR1	OMIM:609192
HP:0001155	Abnormality of the hand	7046	TGFBR1	ORPHA:91387
HP:0001155	Abnormality of the hand	56603	CYP26B1	OMIM:614416
HP:0001155	Abnormality of the hand	7042	TGFB2	OMIM:614816
HP:0001155	Abnormality of the hand	7042	TGFB2	ORPHA:91387
HP:0001155	Abnormality of the hand	4629	MYH11	ORPHA:91387
HP:0001155	Abnormality of the hand	4015	LOX	ORPHA:91387
HP:0001155	Abnormality of the hand	4089	SMAD4	ORPHA:91387
HP:0001155	Abnormality of the hand	59	ACTA2	ORPHA:91387
HP:0001155	Abnormality of the hand	5592	PRKG1	ORPHA:91387
HP:0001155	Abnormality of the hand	2301	FOXE3	ORPHA:91387
HP:0001155	Abnormality of the hand	4144	MAT2A	ORPHA:91387
HP:0001155	Abnormality of the hand	23493	HEY2	ORPHA:91387
HP:0001155	Abnormality of the hand	4638	MYLK	ORPHA:91387
HP:0001155	Abnormality of the hand	23400	ATP13A2	ORPHA:306674
HP:0001155	Abnormality of the hand	64374	SIL1	ORPHA:559
HP:0001155	Abnormality of the hand	51763	INPP5K	ORPHA:559
HP:0001155	Abnormality of the hand	5077	PAX3	ORPHA:896
HP:0001155	Abnormality of the hand	134218	DNAJC21	ORPHA:811
HP:0001155	Abnormality of the hand	79631	EFL1	ORPHA:811
HP:0001155	Abnormality of the hand	51119	SBDS	ORPHA:811
HP:0001155	Abnormality of the hand	6729	SRP54	ORPHA:811
HP:0001155	Abnormality of the hand	6926	TBX3	ORPHA:3138
HP:0001155	Abnormality of the hand	54808	DYM	OMIM:223800
HP:0001155	Abnormality of the hand	1280	COL2A1	OMIM:271700
HP:0001155	Abnormality of the hand	3930	LBR	OMIM:215140
HP:0001155	Abnormality of the hand	4921	DDR2	OMIM:271665
HP:0001155	Abnormality of the hand	3549	IHH	OMIM:112500
HP:0001155	Abnormality of the hand	2245	FGD1	OMIM:305400
HP:0001155	Abnormality of the hand	2245	FGD1	ORPHA:915
HP:0001155	Abnormality of the hand	9131	AIFM1	OMIM:300232
HP:0001155	Abnormality of the hand	10743	RAI1	OMIM:182290
HP:0001155	Abnormality of the hand	145173	B3GLCT	OMIM:261540
HP:0001155	Abnormality of the hand	23135	KDM6B	OMIM:618505
HP:0001155	Abnormality of the hand	54880	BCOR	ORPHA:2712
HP:0001155	Abnormality of the hand	1778	DYNC1H1	OMIM:614563
HP:0001155	Abnormality of the hand	4796	TONSL	ORPHA:93357
HP:0001155	Abnormality of the hand	5745	PTH1R	ORPHA:79106
HP:0001155	Abnormality of the hand	79718	TBL1XR1	OMIM:602342
HP:0001155	Abnormality of the hand	2200	FBN1	OMIM:608328
HP:0001155	Abnormality of the hand	171023	ASXL1	OMIM:605039
HP:0001155	Abnormality of the hand	2623	GATA1	OMIM:190685
HP:0001155	Abnormality of the hand	5277	PIGA	OMIM:300868
HP:0001155	Abnormality of the hand	55012	PPP2R3C	OMIM:618419
HP:0001155	Abnormality of the hand	23384	SPECC1L	OMIM:145420
HP:0001155	Abnormality of the hand	22907	DHX30	OMIM:617804
HP:0001155	Abnormality of the hand	2719	GPC3	OMIM:312870
HP:0001155	Abnormality of the hand	2239	GPC4	OMIM:312870
HP:0001155	Abnormality of the hand	5573	PRKAR1A	OMIM:101800
HP:0001155	Abnormality of the hand	2799	GNS	OMIM:252940
HP:0001155	Abnormality of the hand	2273	FHL1	OMIM:300280
HP:0001155	Abnormality of the hand	55343	SLC35C1	ORPHA:99843
HP:0001155	Abnormality of the hand	81794	ADAMTS10	OMIM:277600
HP:0001155	Abnormality of the hand	64840	PORCN	OMIM:305600
HP:0001155	Abnormality of the hand	64840	PORCN	ORPHA:2092
HP:0001155	Abnormality of the hand	6910	TBX5	ORPHA:392
HP:0001155	Abnormality of the hand	3094	HINT1	ORPHA:324442
HP:0001155	Abnormality of the hand	22880	MORC2	OMIM:616688
HP:0001155	Abnormality of the hand	1001	CDH3	OMIM:225280
HP:0001155	Abnormality of the hand	8626	TP63	OMIM:604292
HP:0001155	Abnormality of the hand	8626	TP63	ORPHA:2440
HP:0001155	Abnormality of the hand	8626	TP63	OMIM:103285
HP:0001155	Abnormality of the hand	8626	TP63	OMIM:603543
HP:0001155	Abnormality of the hand	8626	TP63	OMIM:605289
HP:0001155	Abnormality of the hand	8626	TP63	ORPHA:1896
HP:0001155	Abnormality of the hand	4047	LSS	ORPHA:2850
HP:0001155	Abnormality of the hand	197	AHSG	ORPHA:2850
HP:0001155	Abnormality of the hand	3694	ITGB6	ORPHA:2850
HP:0001155	Abnormality of the hand	79581	SLC52A2	OMIM:614707
HP:0001155	Abnormality of the hand	411	ARSB	OMIM:253200
HP:0001155	Abnormality of the hand	9150	CTDP1	OMIM:604168
HP:0001155	Abnormality of the hand	56704	JPH1	OMIM:607831
HP:0001155	Abnormality of the hand	51776	MAP3K20	OMIM:616890
HP:0001155	Abnormality of the hand	1750	DLX6	ORPHA:2440
HP:0001155	Abnormality of the hand	7979	SEM1	ORPHA:2440
HP:0001155	Abnormality of the hand	8945	BTRC	ORPHA:2440
HP:0001155	Abnormality of the hand	58513	EPS15L1	ORPHA:2440
HP:0001155	Abnormality of the hand	6468	FBXW4	ORPHA:2440
HP:0001155	Abnormality of the hand	7480	WNT10B	ORPHA:2440
HP:0001155	Abnormality of the hand	7480	WNT10B	OMIM:225300
HP:0001155	Abnormality of the hand	1749	DLX5	ORPHA:2440
HP:0001155	Abnormality of the hand	1749	DLX5	OMIM:183600
HP:0001155	Abnormality of the hand	1749	DLX5	OMIM:220600
HP:0001155	Abnormality of the hand	1717	DHCR7	ORPHA:818
HP:0001155	Abnormality of the hand	79158	GNPTAB	OMIM:252500
HP:0001155	Abnormality of the hand	79158	GNPTAB	OMIM:252600
HP:0001155	Abnormality of the hand	3516	RBPJ	ORPHA:974
HP:0001155	Abnormality of the hand	4851	NOTCH1	ORPHA:974
HP:0001155	Abnormality of the hand	57514	ARHGAP31	ORPHA:974
HP:0001155	Abnormality of the hand	57572	DOCK6	ORPHA:974
HP:0001155	Abnormality of the hand	285203	EOGT	ORPHA:974
HP:0001155	Abnormality of the hand	54567	DLL4	ORPHA:974
HP:0001155	Abnormality of the hand	8888	MCM3AP	OMIM:618124
HP:0001155	Abnormality of the hand	3423	IDS	OMIM:309900
HP:0001155	Abnormality of the hand	3664	IRF6	ORPHA:1300
HP:0001155	Abnormality of the hand	374969	SVBP	OMIM:618569
HP:0001155	Abnormality of the hand	3295	HSD17B4	OMIM:261515
HP:0001155	Abnormality of the hand	7476	WNT7A	OMIM:276820
HP:0001155	Abnormality of the hand	1509	CTSD	OMIM:610127
HP:0001155	Abnormality of the hand	64359	NXN	ORPHA:1507
HP:0001155	Abnormality of the hand	4920	ROR2	ORPHA:1507
HP:0001155	Abnormality of the hand	4313	MMP2	OMIM:259600
HP:0001155	Abnormality of the hand	2260	FGFR1	ORPHA:2117
HP:0001155	Abnormality of the hand	10397	NDRG1	ORPHA:99950
HP:0001155	Abnormality of the hand	2189	FANCG	OMIM:614082
HP:0001155	Abnormality of the hand	2189	FANCG	ORPHA:84
HP:0001155	Abnormality of the hand	80207	OPA3	ORPHA:67036
HP:0001155	Abnormality of the hand	9968	MED12	ORPHA:93932
HP:0001155	Abnormality of the hand	8200	GDF5	ORPHA:2639
HP:0001155	Abnormality of the hand	658	BMPR1B	ORPHA:2639
HP:0001155	Abnormality of the hand	672	BRCA1	ORPHA:84
HP:0001155	Abnormality of the hand	10459	MAD2L2	ORPHA:84
HP:0001155	Abnormality of the hand	7516	XRCC2	ORPHA:84
HP:0001155	Abnormality of the hand	29089	UBE2T	ORPHA:84
HP:0001155	Abnormality of the hand	675	BRCA2	ORPHA:84
HP:0001155	Abnormality of the hand	55120	FANCL	ORPHA:84
HP:0001155	Abnormality of the hand	2175	FANCA	ORPHA:84
HP:0001155	Abnormality of the hand	2187	FANCB	ORPHA:84
HP:0001155	Abnormality of the hand	2176	FANCC	ORPHA:84
HP:0001155	Abnormality of the hand	2178	FANCE	ORPHA:84
HP:0001155	Abnormality of the hand	2188	FANCF	ORPHA:84
HP:0001155	Abnormality of the hand	5888	RAD51	ORPHA:84
HP:0001155	Abnormality of the hand	5889	RAD51C	ORPHA:84
HP:0001155	Abnormality of the hand	55159	RFWD3	ORPHA:84
HP:0001155	Abnormality of the hand	83990	BRIP1	ORPHA:84
HP:0001155	Abnormality of the hand	57697	FANCM	ORPHA:84
HP:0001155	Abnormality of the hand	79728	PALB2	ORPHA:84
HP:0001155	Abnormality of the hand	84464	SLX4	ORPHA:84
HP:0001155	Abnormality of the hand	2072	ERCC4	ORPHA:84
HP:0001155	Abnormality of the hand	55215	FANCI	ORPHA:84
HP:0001155	Abnormality of the hand	64093	SMOC1	ORPHA:1106
HP:0001155	Abnormality of the hand	2261	FGFR3	OMIM:620192
HP:0001155	Abnormality of the hand	2261	FGFR3	ORPHA:2363
HP:0001155	Abnormality of the hand	23111	SPART	ORPHA:101000
HP:0001155	Abnormality of the hand	25942	SIN3A	ORPHA:94065
HP:0001155	Abnormality of the hand	1193	CLIC2	ORPHA:324410
HP:0001155	Abnormality of the hand	860	RUNX2	ORPHA:1452
HP:0001155	Abnormality of the hand	2255	FGF10	ORPHA:2363
HP:0001155	Abnormality of the hand	6469	SHH	ORPHA:93321
HP:0001155	Abnormality of the hand	6197	RPS6KA3	ORPHA:192
HP:0001155	Abnormality of the hand	6197	RPS6KA3	ORPHA:276630
HP:0001155	Abnormality of the hand	8925	HERC1	OMIM:617011
HP:0001155	Abnormality of the hand	5447	POR	OMIM:201750
HP:0001155	Abnormality of the hand	23512	SUZ12	OMIM:618786
HP:0001155	Abnormality of the hand	23512	SUZ12	ORPHA:3447
HP:0001155	Abnormality of the hand	9158	FIBP	ORPHA:500095
HP:0001155	Abnormality of the hand	9158	FIBP	OMIM:617107
HP:0001155	Abnormality of the hand	26580	BSCL2	OMIM:269700
HP:0001155	Abnormality of the hand	26580	BSCL2	ORPHA:528
HP:0001155	Abnormality of the hand	100151683	RNU4ATAC	OMIM:210710
HP:0001155	Abnormality of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0001155	Abnormality of the hand	3643	INSR	ORPHA:508
HP:0001155	Abnormality of the hand	3643	INSR	OMIM:246200
HP:0001155	Abnormality of the hand	5189	PEX1	ORPHA:3220
HP:0001155	Abnormality of the hand	5190	PEX6	ORPHA:3220
HP:0001155	Abnormality of the hand	85358	SHANK3	OMIM:606232
HP:0001155	Abnormality of the hand	85358	SHANK3	ORPHA:48652
HP:0001155	Abnormality of the hand	11128	POLR3A	OMIM:264090
HP:0001155	Abnormality of the hand	64324	NSD1	ORPHA:821
HP:0001155	Abnormality of the hand	64324	NSD1	OMIM:117550
HP:0001155	Abnormality of the hand	64324	NSD1	ORPHA:3447
HP:0001155	Abnormality of the hand	29072	SETD2	ORPHA:821
HP:0001155	Abnormality of the hand	10297	APC2	ORPHA:821
HP:0001155	Abnormality of the hand	55690	PACS1	OMIM:615009
HP:0001155	Abnormality of the hand	4221	MEN1	ORPHA:99725
HP:0001155	Abnormality of the hand	9049	AIP	ORPHA:99725
HP:0001155	Abnormality of the hand	9049	AIP	ORPHA:963
HP:0001155	Abnormality of the hand	8242	KDM5C	OMIM:300534
HP:0001155	Abnormality of the hand	440	ASNS	OMIM:615574
HP:0001155	Abnormality of the hand	9487	PIGL	OMIM:280000
HP:0001155	Abnormality of the hand	2146	EZH2	OMIM:277590
HP:0001155	Abnormality of the hand	2146	EZH2	ORPHA:3447
HP:0001155	Abnormality of the hand	5468	PPARG	ORPHA:528
HP:0001155	Abnormality of the hand	10555	AGPAT2	ORPHA:528
HP:0001155	Abnormality of the hand	10555	AGPAT2	OMIM:608594
HP:0001155	Abnormality of the hand	284119	CAVIN1	ORPHA:528
HP:0001155	Abnormality of the hand	2353	FOS	ORPHA:528
HP:0001155	Abnormality of the hand	857	CAV1	ORPHA:528
HP:0001155	Abnormality of the hand	83550	GPR101	ORPHA:963
HP:0001155	Abnormality of the hand	8726	EED	ORPHA:3447
HP:0001155	Abnormality of the hand	8726	EED	OMIM:617561
HP:0001155	Abnormality of the hand	6390	SDHB	OMIM:606764
HP:0001155	Abnormality of the hand	6391	SDHC	OMIM:606764
HP:0001155	Abnormality of the hand	3815	KIT	OMIM:606764
HP:0001155	Abnormality of the hand	4763	NF1	ORPHA:363700
HP:0001155	Abnormality of the hand	4763	NF1	ORPHA:97685
HP:0001155	Abnormality of the hand	372	ARCN1	OMIM:617164
HP:0001155	Abnormality of the hand	57167	SALL4	ORPHA:233
HP:0001155	Abnormality of the hand	57167	SALL4	ORPHA:959
HP:0001155	Abnormality of the hand	57167	SALL4	ORPHA:2307
HP:0001155	Abnormality of the hand	9935	MAFB	ORPHA:233
HP:0001155	Abnormality of the hand	1123	CHN1	ORPHA:233
HP:0001155	Abnormality of the hand	2137	EXTL3	ORPHA:508533
HP:0001155	Abnormality of the hand	22827	PUF60	ORPHA:508498
HP:0001155	Abnormality of the hand	65250	CPLANE1	OMIM:277170
HP:0001155	Abnormality of the hand	6608	SMO	OMIM:601707
HP:0001155	Abnormality of the hand	6608	SMO	ORPHA:1553
HP:0001155	Abnormality of the hand	4750	NEK1	OMIM:263520
HP:0001155	Abnormality of the hand	2737	GLI3	OMIM:175700
HP:0001155	Abnormality of the hand	2737	GLI3	ORPHA:380
HP:0001155	Abnormality of the hand	2737	GLI3	OMIM:174200
HP:0001155	Abnormality of the hand	64327	LMBR1	ORPHA:2378
HP:0001155	Abnormality of the hand	64327	LMBR1	OMIM:174500
HP:0001155	Abnormality of the hand	55027	HEATR3	OMIM:620072
HP:0001155	Abnormality of the hand	6299	SALL1	OMIM:107480
HP:0001155	Abnormality of the hand	6299	SALL1	ORPHA:857
HP:0001155	Abnormality of the hand	55112	DYNC2I1	ORPHA:93271
HP:0001155	Abnormality of the hand	57560	IFT80	ORPHA:93271
HP:0001155	Abnormality of the hand	57539	WDR35	ORPHA:93271
HP:0001155	Abnormality of the hand	79659	DYNC2H1	ORPHA:93271
HP:0001155	Abnormality of the hand	89891	DYNC2I2	ORPHA:93271
HP:0001155	Abnormality of the hand	374879	ZNF699	OMIM:619488
HP:0001155	Abnormality of the hand	374654	KIF7	OMIM:200990
HP:0001155	Abnormality of the hand	8318	CDC45	OMIM:617063
HP:0001155	Abnormality of the hand	51339	DACT1	ORPHA:857
HP:0001155	Abnormality of the hand	2177	FANCD2	OMIM:227646
HP:0001155	Abnormality of the hand	727857	BHLHA9	ORPHA:3329
HP:0001155	Abnormality of the hand	23133	PHF8	ORPHA:85287
HP:0001155	Abnormality of the hand	8481	OFD1	ORPHA:2750
HP:0001155	Abnormality of the hand	219844	HYLS1	OMIM:236680
HP:0001155	Abnormality of the hand	26123	TCTN3	ORPHA:2753
HP:0001155	Abnormality of the hand	26123	TCTN3	ORPHA:564
HP:0001155	Abnormality of the hand	2697	GJA1	ORPHA:2710
HP:0001155	Abnormality of the hand	3239	HOXD13	ORPHA:887
HP:0001155	Abnormality of the hand	7020	TFAP2A	OMIM:113620
HP:0001155	Abnormality of the hand	7020	TFAP2A	ORPHA:1297
HP:0001155	Abnormality of the hand	84314	TMEM107	ORPHA:564
HP:0001155	Abnormality of the hand	79867	TCTN2	ORPHA:564
HP:0001155	Abnormality of the hand	80776	B9D2	ORPHA:564
HP:0001155	Abnormality of the hand	79600	TCTN1	ORPHA:564
HP:0001155	Abnormality of the hand	57096	RPGRIP1	ORPHA:564
HP:0001155	Abnormality of the hand	79848	CSPP1	ORPHA:564
HP:0001155	Abnormality of the hand	80184	CEP290	ORPHA:564
HP:0001155	Abnormality of the hand	51259	TMEM216	ORPHA:564
HP:0001155	Abnormality of the hand	57545	CC2D2A	ORPHA:564
HP:0001155	Abnormality of the hand	79583	TMEM231	ORPHA:564
HP:0001155	Abnormality of the hand	91147	TMEM67	ORPHA:564
HP:0001155	Abnormality of the hand	79770	TXNDC15	ORPHA:564
HP:0001155	Abnormality of the hand	27077	B9D1	ORPHA:564
HP:0001155	Abnormality of the hand	23322	RPGRIP1L	ORPHA:564
HP:0001155	Abnormality of the hand	54903	MKS1	ORPHA:564
HP:0001155	Abnormality of the hand	65062	TMEM237	ORPHA:564
HP:0001155	Abnormality of the hand	10815	CPLX1	ORPHA:280
HP:0001155	Abnormality of the hand	10815	CPLX1	OMIM:194190
HP:0001155	Abnormality of the hand	54872	PIGG	ORPHA:280
HP:0001155	Abnormality of the hand	7469	NELFA	ORPHA:280
HP:0001155	Abnormality of the hand	1487	CTBP1	ORPHA:280
HP:0001155	Abnormality of the hand	1487	CTBP1	OMIM:194190
HP:0001155	Abnormality of the hand	3954	LETM1	ORPHA:280
HP:0001155	Abnormality of the hand	3954	LETM1	OMIM:194190
HP:0001155	Abnormality of the hand	7468	NSD2	ORPHA:280
HP:0001155	Abnormality of the hand	7468	NSD2	OMIM:194190
HP:0001155	Abnormality of the hand	2735	GLI1	OMIM:174400
HP:0001155	Abnormality of the hand	53834	FGFRL1	OMIM:194190
HP:0001155	Abnormality of the hand	9343	EFTUD2	OMIM:610536
HP:0001155	Abnormality of the hand	9343	EFTUD2	ORPHA:79113
HP:0001155	Abnormality of the hand	2263	FGFR2	OMIM:101200
HP:0001155	Abnormality of the hand	54332	GDAP1	OMIM:607706
HP:0001155	Abnormality of the hand	54332	GDAP1	OMIM:214400
HP:0001155	Abnormality of the hand	54332	GDAP1	OMIM:608340
HP:0001155	Abnormality of the hand	5376	PMP22	OMIM:118220
HP:0001155	Abnormality of the hand	5376	PMP22	OMIM:145900
HP:0001155	Abnormality of the hand	4747	NEFL	OMIM:607684
HP:0001155	Abnormality of the hand	3315	HSPB1	OMIM:606595
HP:0001155	Abnormality of the hand	4359	MPZ	OMIM:118200
HP:0001155	Abnormality of the hand	4359	MPZ	OMIM:145900
HP:0001155	Abnormality of the hand	1959	EGR2	OMIM:145900
HP:0001155	Abnormality of the hand	57716	PRX	OMIM:145900
HP:0001155	Abnormality of the hand	4358	MPV17	OMIM:618400
HP:0001155	Abnormality of the hand	81846	SBF2	OMIM:604563
HP:0001155	Abnormality of the hand	157570	ESCO2	OMIM:268300
HP:0001155	Abnormality of the hand	9401	RECQL4	ORPHA:1225
HP:0001155	Abnormality of the hand	25836	NIPBL	OMIM:122470
HP:0001155	Abnormality of the hand	6154	RPL26	OMIM:614900
HP:0001155	Abnormality of the hand	10262	SF3B4	ORPHA:1788
HP:0001155	Abnormality of the hand	1802	DPH2	OMIM:620062
HP:0001155	Abnormality of the hand	91949	COG7	OMIM:608779
HP:0001155	Abnormality of the hand	91949	COG7	ORPHA:79333
HP:0001155	Abnormality of the hand	27238	GPKOW	ORPHA:2570
HP:0001155	Abnormality of the hand	23141	ANKLE2	OMIM:616681
HP:0001155	Abnormality of the hand	29895	MYL11	OMIM:619110
HP:0001155	Abnormality of the hand	5393	EXOSC9	OMIM:618065
HP:0001155	Abnormality of the hand	55627	SMPD4	OMIM:618622
HP:0001155	Abnormality of the hand	6804	STX1A	ORPHA:904
HP:0001155	Abnormality of the hand	7461	CLIP2	ORPHA:904
HP:0001155	Abnormality of the hand	84277	DNAJC30	ORPHA:904
HP:0001155	Abnormality of the hand	8468	FKBP6	ORPHA:904
HP:0001155	Abnormality of the hand	5982	RFC2	ORPHA:904
HP:0001155	Abnormality of the hand	2969	GTF2I	ORPHA:904
HP:0001155	Abnormality of the hand	3984	LIMK1	ORPHA:904
HP:0001155	Abnormality of the hand	9569	GTF2IRD1	ORPHA:904
HP:0001155	Abnormality of the hand	155382	VPS37D	ORPHA:904
HP:0001155	Abnormality of the hand	155368	METTL27	ORPHA:904
HP:0001155	Abnormality of the hand	114049	BUD23	ORPHA:904
HP:0001155	Abnormality of the hand	7458	EIF4H	ORPHA:904
HP:0001155	Abnormality of the hand	84163	GTF2IRD2	ORPHA:904
HP:0001155	Abnormality of the hand	9275	BCL7B	ORPHA:904
HP:0001155	Abnormality of the hand	26608	TBL2	ORPHA:904
HP:0001155	Abnormality of the hand	653361	NCF1	ORPHA:904
HP:0001155	Abnormality of the hand	135886	TMEM270	ORPHA:904
HP:0001155	Abnormality of the hand	51085	MLXIPL	ORPHA:904
HP:0001155	Abnormality of the hand	9031	BAZ1B	ORPHA:904
HP:0001155	Abnormality of the hand	2006	ELN	ORPHA:904
HP:0001155	Abnormality of the hand	2006	ELN	ORPHA:90348
HP:0001155	Abnormality of the hand	5832	ALDH18A1	OMIM:616603
HP:0001155	Abnormality of the hand	5832	ALDH18A1	OMIM:219150
HP:0001155	Abnormality of the hand	5832	ALDH18A1	ORPHA:90348
HP:0001155	Abnormality of the hand	347734	SLC35B2	OMIM:620269
HP:0001155	Abnormality of the hand	84992	PIGY	OMIM:616809
HP:0001155	Abnormality of the hand	1291	COL6A1	ORPHA:75840
HP:0001155	Abnormality of the hand	1292	COL6A2	ORPHA:75840
HP:0001155	Abnormality of the hand	1293	COL6A3	ORPHA:75840
HP:0001155	Abnormality of the hand	9839	ZEB2	ORPHA:261537
HP:0001155	Abnormality of the hand	9839	ZEB2	ORPHA:261552
HP:0001155	Abnormality of the hand	215	ABCD1	ORPHA:388
HP:0001155	Abnormality of the hand	5979	RET	ORPHA:388
HP:0001155	Abnormality of the hand	2668	GDNF	ORPHA:388
HP:0001155	Abnormality of the hand	6720	SREBF1	ORPHA:388
HP:0001155	Abnormality of the hand	1908	EDN3	ORPHA:388
HP:0001155	Abnormality of the hand	223117	SEMA3D	ORPHA:388
HP:0001155	Abnormality of the hand	538	ATP7A	ORPHA:388
HP:0001155	Abnormality of the hand	1910	EDNRB	ORPHA:388
HP:0001155	Abnormality of the hand	10512	SEMA3C	ORPHA:388
HP:0001155	Abnormality of the hand	2064	ERBB2	ORPHA:388
HP:0001155	Abnormality of the hand	2065	ERBB3	ORPHA:388
HP:0001155	Abnormality of the hand	4902	NRTN	ORPHA:388
HP:0001155	Abnormality of the hand	10479	SLC9A6	OMIM:300243
HP:0001155	Abnormality of the hand	10479	SLC9A6	ORPHA:85278
HP:0001155	Abnormality of the hand	91754	NEK9	OMIM:617022
HP:0001155	Abnormality of the hand	5649	RELN	ORPHA:89844
HP:0001155	Abnormality of the hand	54820	NDE1	ORPHA:89844
HP:0001155	Abnormality of the hand	6472	SHMT2	OMIM:619121
HP:0001155	Abnormality of the hand	58	ACTA1	ORPHA:171430
HP:0001155	Abnormality of the hand	131377	KLHL40	ORPHA:171430
HP:0001155	Abnormality of the hand	10324	KLHL41	ORPHA:171430
HP:0001155	Abnormality of the hand	56203	LMOD3	ORPHA:171430
HP:0001155	Abnormality of the hand	26227	PHGDH	OMIM:601815
HP:0001155	Abnormality of the hand	26227	PHGDH	ORPHA:79351
HP:0001155	Abnormality of the hand	202018	TAPT1	OMIM:616897
HP:0001155	Abnormality of the hand	2201	FBN2	OMIM:121050
HP:0001155	Abnormality of the hand	91869	RFT1	OMIM:612015
HP:0001155	Abnormality of the hand	2033	EP300	ORPHA:353284
HP:0001155	Abnormality of the hand	4621	MYH3	OMIM:618436
HP:0001155	Abnormality of the hand	4621	MYH3	OMIM:193700
HP:0001155	Abnormality of the hand	4621	MYH3	ORPHA:1147
HP:0001155	Abnormality of the hand	4621	MYH3	ORPHA:1146
HP:0001155	Abnormality of the hand	388015	RTL1	ORPHA:96334
HP:0001155	Abnormality of the hand	8788	DLK1	ORPHA:96334
HP:0001155	Abnormality of the hand	55384	MEG3	ORPHA:96334
HP:0001155	Abnormality of the hand	2067	ERCC1	OMIM:610758
HP:0001155	Abnormality of the hand	9179	AP4M1	OMIM:612936
HP:0001155	Abnormality of the hand	126792	B3GALT6	ORPHA:536467
HP:0001155	Abnormality of the hand	50515	CHST11	OMIM:618167
HP:0001155	Abnormality of the hand	79868	ALG13	ORPHA:324422
HP:0001155	Abnormality of the hand	259232	NALCN	OMIM:616266
HP:0001155	Abnormality of the hand	259232	NALCN	ORPHA:1147
HP:0001155	Abnormality of the hand	259232	NALCN	ORPHA:1146
HP:0001155	Abnormality of the hand	23483	TGDS	OMIM:616145
HP:0001155	Abnormality of the hand	729920	CRPPA	OMIM:614643
HP:0001155	Abnormality of the hand	7136	TNNI2	ORPHA:1147
HP:0001155	Abnormality of the hand	7136	TNNI2	ORPHA:1146
HP:0001155	Abnormality of the hand	10273	STUB1	ORPHA:412057
HP:0001155	Abnormality of the hand	1387	CREBBP	ORPHA:353277
HP:0001155	Abnormality of the hand	4604	MYBPC1	ORPHA:1146
HP:0001155	Abnormality of the hand	10516	FBLN5	ORPHA:90348
HP:0001155	Abnormality of the hand	81857	MED25	ORPHA:464738
HP:0001155	Abnormality of the hand	57211	ADGRG6	OMIM:616503
HP:0001155	Abnormality of the hand	9939	RBM8A	ORPHA:3320
HP:0001155	Abnormality of the hand	9939	RBM8A	OMIM:274000
HP:0001155	Abnormality of the hand	10195	ALG3	OMIM:601110
HP:0001155	Abnormality of the hand	10943	MSL3	OMIM:301032
HP:0001155	Abnormality of the hand	3977	LIFR	OMIM:601559
HP:0001155	Abnormality of the hand	9427	ECEL1	OMIM:615065
HP:0001155	Abnormality of the hand	6999	TDO2	OMIM:600627
HP:0001155	Abnormality of the hand	84896	ATAD1	OMIM:618011
HP:0001155	Abnormality of the hand	2036	EPB41L1	OMIM:614257
HP:0001155	Abnormality of the hand	51002	TPRKB	ORPHA:2065
HP:0001155	Abnormality of the hand	55644	OSGEP	ORPHA:2065
HP:0001155	Abnormality of the hand	57122	NUP107	ORPHA:2065
HP:0001155	Abnormality of the hand	10785	WDR4	ORPHA:2065
HP:0001155	Abnormality of the hand	55746	NUP133	ORPHA:2065
HP:0001155	Abnormality of the hand	8270	LAGE3	ORPHA:2065
HP:0001155	Abnormality of the hand	8367	H4C5	OMIM:619950
HP:0001155	Abnormality of the hand	9853	RUSC2	OMIM:617773
HP:0001155	Abnormality of the hand	23019	CNOT1	OMIM:619033
HP:0001155	Abnormality of the hand	26128	KIFBP	OMIM:609460
HP:0001155	Abnormality of the hand	2972	BRF1	OMIM:616202
HP:0001155	Abnormality of the hand	2972	BRF1	ORPHA:444072
HP:0001155	Abnormality of the hand	56916	SMARCAD1	OMIM:129200
HP:0001155	Abnormality of the hand	56916	SMARCAD1	OMIM:181600
HP:0001155	Abnormality of the hand	9578	CDC42BPB	OMIM:619841
HP:0001155	Abnormality of the hand	3020	H3-3A	OMIM:619720
HP:0001155	Abnormality of the hand	170302	ARX	OMIM:300004
HP:0001155	Abnormality of the hand	3021	H3-3B	OMIM:619721
HP:0001155	Abnormality of the hand	10300	KATNB1	OMIM:616212
HP:0001155	Abnormality of the hand	2624	GATA2	OMIM:614038
HP:0001155	Abnormality of the hand	55904	KMT2E	OMIM:618512
HP:0001155	Abnormality of the hand	10978	CLP1	OMIM:615803
HP:0001155	Abnormality of the hand	55650	PIGV	OMIM:239300
HP:0001155	Abnormality of the hand	6335	SCN9A	ORPHA:970
HP:0001155	Abnormality of the hand	65125	WNK1	ORPHA:970
HP:0001155	Abnormality of the hand	54463	RETREG1	ORPHA:970
HP:0001155	Abnormality of the hand	547	KIF1A	ORPHA:970
HP:0001155	Abnormality of the hand	547	KIF1A	ORPHA:2836
HP:0001155	Abnormality of the hand	6595	SMARCA2	OMIM:619293
HP:0001155	Abnormality of the hand	80204	FBXO11	OMIM:618089
HP:0001155	Abnormality of the hand	113189	CHST14	ORPHA:2953
HP:0001155	Abnormality of the hand	29940	DSE	ORPHA:2953
HP:0001155	Abnormality of the hand	1889	ECE1	OMIM:613870
HP:0001155	Abnormality of the hand	9326	ZNHIT3	ORPHA:2836
HP:0001155	Abnormality of the hand	9326	ZNHIT3	OMIM:260565
HP:0001155	Abnormality of the hand	2770	GNAI1	OMIM:619854
HP:0001155	Abnormality of the hand	157680	VPS13B	OMIM:216550
HP:0001155	Abnormality of the hand	157680	VPS13B	ORPHA:193
HP:0001155	Abnormality of the hand	2626	GATA4	ORPHA:251071
HP:0001155	Abnormality of the hand	84823	LMNB2	OMIM:619180
HP:0001155	Abnormality of the hand	9896	FIG4	ORPHA:3472
HP:0001155	Abnormality of the hand	9896	FIG4	OMIM:216340
HP:0001155	Abnormality of the hand	55697	VAC14	ORPHA:3472
HP:0001155	Abnormality of the hand	1656	DDX6	OMIM:618653
HP:0001155	Abnormality of the hand	4297	KMT2A	ORPHA:319182
HP:0001155	Abnormality of the hand	4297	KMT2A	OMIM:605130
HP:0001155	Abnormality of the hand	57178	ZMIZ1	OMIM:618659
HP:0001155	Abnormality of the hand	6792	CDKL5	OMIM:300672
HP:0001155	Abnormality of the hand	7025	NR2F1	ORPHA:401777
HP:0001155	Abnormality of the hand	7025	NR2F1	OMIM:615722
HP:0001155	Abnormality of the hand	253738	EBF3	OMIM:617330
HP:0001155	Abnormality of the hand	55699	IARS2	OMIM:616007
HP:0001155	Abnormality of the hand	8239	USP9X	ORPHA:480880
HP:0001155	Abnormality of the hand	8239	USP9X	OMIM:300968
HP:0001155	Abnormality of the hand	285175	UNC80	OMIM:616801
HP:0001155	Abnormality of the hand	79753	SNIP1	OMIM:614501
HP:0001155	Abnormality of the hand	6134	RPL10	ORPHA:459070
HP:0001155	Abnormality of the hand	6134	RPL10	OMIM:300998
HP:0001155	Abnormality of the hand	6134	RPL10	ORPHA:435938
HP:0001155	Abnormality of the hand	1859	DYRK1A	ORPHA:464311
HP:0001155	Abnormality of the hand	1859	DYRK1A	ORPHA:268261
HP:0001155	Abnormality of the hand	1303	COL12A1	ORPHA:536516
HP:0001155	Abnormality of the hand	51611	DPH5	OMIM:620070
HP:0001155	Abnormality of the hand	79813	EHMT1	ORPHA:261652
HP:0001155	Abnormality of the hand	58508	KMT2C	ORPHA:261652
HP:0001155	Abnormality of the hand	4094	MAF	ORPHA:1272
HP:0001155	Abnormality of the hand	4094	MAF	OMIM:601088
HP:0001155	Abnormality of the hand	7750	ZMYM2	OMIM:619522
HP:0001155	Abnormality of the hand	5594	MAPK1	OMIM:619087
HP:0001155	Abnormality of the hand	4849	CNOT3	OMIM:618672
HP:0001155	Abnormality of the hand	6942	TCF20	OMIM:618430
HP:0001155	Abnormality of the hand	81887	LAS1L	ORPHA:3459
HP:0001155	Abnormality of the hand	81887	LAS1L	OMIM:309585
HP:0001155	Abnormality of the hand	55869	HDAC8	ORPHA:3459
HP:0001155	Abnormality of the hand	7140	TNNT3	OMIM:618435
HP:0001155	Abnormality of the hand	6925	TCF4	OMIM:610954
HP:0001155	Abnormality of the hand	6925	TCF4	ORPHA:2896
HP:0001155	Abnormality of the hand	7030	TFE3	OMIM:301066
HP:0001155	Abnormality of the hand	546	ATRX	OMIM:309580
HP:0001155	Abnormality of the hand	546	ATRX	OMIM:301040
HP:0001155	Abnormality of the hand	84295	PHF6	ORPHA:127
HP:0001155	Abnormality of the hand	84295	PHF6	OMIM:301900
HP:0001155	Abnormality of the hand	91252	SLC39A13	ORPHA:157965
HP:0001155	Abnormality of the hand	91252	SLC39A13	OMIM:612350
HP:0001155	Abnormality of the hand	55023	PHIP	ORPHA:589905
HP:0001155	Abnormality of the hand	55023	PHIP	OMIM:617991
HP:0001155	Abnormality of the hand	9230	RAB11B	OMIM:617807
HP:0001155	Abnormality of the hand	389827	MYMK	OMIM:254940
HP:0001155	Abnormality of the hand	10075	HUWE1	OMIM:309590
HP:0001155	Abnormality of the hand	9488	PIGB	OMIM:618580
HP:0001155	Abnormality of the hand	8243	SMC1A	OMIM:301044
HP:0001155	Abnormality of the hand	23013	SPEN	OMIM:619312
HP:0001155	Abnormality of the hand	56896	DPYSL5	OMIM:619435
HP:0001155	Abnormality of the hand	9698	PUM1	OMIM:617931
HP:0001155	Abnormality of the hand	23394	ADNP	OMIM:615873
HP:0001155	Abnormality of the hand	23028	KDM1A	OMIM:616728
HP:0001155	Abnormality of the hand	23028	KDM1A	ORPHA:477993
HP:0001155	Abnormality of the hand	5575	PRKAR1B	OMIM:619680
HP:0001155	Abnormality of the hand	91179	SCARF2	OMIM:600920
HP:0001155	Abnormality of the hand	6492	SIM1	ORPHA:171829
HP:0001155	Abnormality of the hand	4953	ODC1	ORPHA:544488
HP:0001155	Abnormality of the hand	998	CDC42	OMIM:616737
HP:0001155	Abnormality of the hand	998	CDC42	ORPHA:487796
HP:0001155	Abnormality of the hand	3097	HIVEP2	OMIM:616977
HP:0001155	Abnormality of the hand	10982	MAPRE2	OMIM:616734
HP:0001155	Abnormality of the hand	4131	MAP1B	OMIM:618918
HP:0001155	Abnormality of the hand	56915	EXOSC5	OMIM:619576
HP:0001155	Abnormality of the hand	10588	MTHFS	OMIM:618367
HP:0001155	Abnormality of the hand	63035	BCORL1	OMIM:301029
HP:0001155	Abnormality of the hand	10265	IRX5	OMIM:611174
HP:0001155	Abnormality of the hand	1108	CHD4	OMIM:617159
HP:0001155	Abnormality of the hand	91137	SLC25A46	OMIM:616505
HP:0001155	Abnormality of the hand	8604	SLC25A12	OMIM:612949
HP:0001155	Abnormality of the hand	7703	PCGF2	OMIM:618371
HP:0001155	Abnormality of the hand	83696	TRAPPC9	ORPHA:352530
HP:0001155	Abnormality of the hand	92949	ADAMTSL1	ORPHA:521445
HP:0001155	Abnormality of the hand	54551	MAGEL2	OMIM:615547
HP:0001155	Abnormality of the hand	2707	GJB3	ORPHA:317
HP:0001155	Abnormality of the hand	2531	KDSR	ORPHA:317
HP:0001155	Abnormality of the hand	127534	GJB4	ORPHA:317
HP:0001155	Abnormality of the hand	9244	CRLF1	OMIM:272430
HP:0001155	Abnormality of the hand	8812	CCNK	OMIM:618147
HP:0001155	Abnormality of the hand	112858	TP53RK	OMIM:617730
HP:0001155	Abnormality of the hand	7204	TRIO	OMIM:618825
HP:0001155	Abnormality of the hand	7204	TRIO	OMIM:617061
HP:0001155	Abnormality of the hand	7204	TRIO	ORPHA:476126
HP:0001155	Abnormality of the hand	9894	TELO2	ORPHA:488642
HP:0001155	Abnormality of the hand	80036	TRPM3	OMIM:620224
HP:0001155	Abnormality of the hand	8936	WASF1	OMIM:618707
HP:0001155	Abnormality of the hand	8405	SPOP	OMIM:618829
HP:0001155	Abnormality of the hand	23630	KCNE5	ORPHA:86818
HP:0001155	Abnormality of the hand	2182	ACSL4	ORPHA:86818
HP:0001155	Abnormality of the hand	9949	AMMECR1	ORPHA:86818
HP:0001155	Abnormality of the hand	11198	SUPT16H	OMIM:619480
HP:0001155	Abnormality of the hand	23556	PIGN	ORPHA:280633
HP:0001155	Abnormality of the hand	23067	SETD1B	OMIM:619000
HP:0001155	Abnormality of the hand	23233	EXOC6B	OMIM:618395
HP:0001155	Abnormality of the hand	5075	PAX1	OMIM:615560
HP:0001155	Abnormality of the hand	55704	CCDC88A	OMIM:617507
HP:0001155	Abnormality of the hand	1376	CPT2	OMIM:608836
HP:0001155	Abnormality of the hand	1315	COPB1	OMIM:619255
HP:0001155	Abnormality of the hand	51317	PHF21A	OMIM:618725
HP:0001155	Abnormality of the hand	1968	EIF2S3	ORPHA:85282
HP:0001155	Abnormality of the hand	5557	PRIM1	OMIM:620005
HP:0001155	Abnormality of the hand	1795	DOCK3	OMIM:618292
HP:0001155	Abnormality of the hand	3636	INPPL1	ORPHA:2746
HP:0001155	Abnormality of the hand	11342	RNF13	ORPHA:544503
HP:0001155	Abnormality of the hand	9990	SLC12A6	OMIM:218000
HP:0001155	Abnormality of the hand	9791	PTDSS1	OMIM:151050
HP:0001155	Abnormality of the hand	9759	HDAC4	OMIM:619797
HP:0001155	Abnormality of the hand	3756	KCNH1	OMIM:135500
HP:0001155	Abnormality of the hand	57479	PRR12	OMIM:619539
HP:0001155	Abnormality of the hand	6611	SMS	OMIM:309583
HP:0001155	Abnormality of the hand	673	BRAF	OMIM:115150
HP:0001155	Abnormality of the hand	91461	PKDCC	OMIM:618821
HP:0001155	Abnormality of the hand	92344	GORAB	OMIM:231070
HP:0001155	Abnormality of the hand	54499	TMCO1	OMIM:213980
HP:0001155	Abnormality of the hand	387733	IFITM5	OMIM:610967
HP:0001155	Abnormality of the hand	51633	OTUD6B	ORPHA:505237
HP:0001155	Abnormality of the hand	23114	NFASC	OMIM:618356
HP:0001155	Abnormality of the hand	1289	COL5A1	OMIM:130000
HP:0001155	Abnormality of the hand	1278	COL1A2	OMIM:617821
HP:0001155	Abnormality of the hand	427	ASAH1	OMIM:228000
HP:0001155	Abnormality of the hand	9373	PLAA	ORPHA:521426
HP:0001155	Abnormality of the hand	2783	GNB2	OMIM:619503
HP:0001155	Abnormality of the hand	3265	HRAS	OMIM:218040
HP:0001155	Abnormality of the hand	121340	SP7	OMIM:613849
HP:0001155	Abnormality of the hand	7169	TPM2	OMIM:108120
HP:0001155	Abnormality of the hand	3187	HNRNPH1	OMIM:620083
HP:0001155	Abnormality of the hand	8506	CNTNAP1	OMIM:618186
HP:0001155	Abnormality of the hand	1020	CDK5	OMIM:616342
HP:0001155	Abnormality of the hand	56006	SMG9	OMIM:616920
HP:0001155	Abnormality of the hand	2733	GLE1	OMIM:611890
HP:0001155	Abnormality of the hand	1861	TOR1A	OMIM:618947
HP:0001155	Abnormality of the hand	55681	SCYL2	OMIM:618766
HP:0001155	Abnormality of the hand	84942	WDR73	OMIM:251300
HP:0001155	Abnormality of the hand	7841	MOGS	OMIM:606056
HP:0001155	Abnormality of the hand	4703	NEB	OMIM:256030
HP:0001155	Abnormality of the hand	23345	SYNE1	ORPHA:319332
HP:0001155	Abnormality of the hand	23299	BICD2	OMIM:618291
HP:0001155	Abnormality of the hand	2317	FLNB	ORPHA:56305
HP:0001155	Abnormality of the hand	2898	GRIK2	OMIM:619580
HP:0001155	Abnormality of the hand	57498	KIDINS220	OMIM:619501
HP:0001155	Abnormality of the hand	80816	ASXL3	OMIM:615485
HP:0001155	Abnormality of the hand	6536	SLC6A9	OMIM:617301
HP:0001155	Abnormality of the hand	51741	WWOX	OMIM:616211
HP:0001155	Abnormality of the hand	84162	BLTP1	OMIM:617822
HP:0001155	Abnormality of the hand	667	DST	OMIM:614653
HP:0001155	Abnormality of the hand	2782	GNB1	OMIM:616973
HP:0001155	Abnormality of the hand	3897	L1CAM	ORPHA:2466
HP:0001155	Abnormality of the hand	529	ATP6V1E1	OMIM:617402
HP:0001155	Abnormality of the hand	4654	MYOD1	OMIM:618975
HP:0001155	Abnormality of the hand	54676	GTPBP2	OMIM:617988
HP:0001155	Abnormality of the hand	4137	MAPT	ORPHA:240103
HP:0001155	Abnormality of the hand	10716	TBR1	ORPHA:1617
HP:0001155	Abnormality of the hand	3736	KCNA1	ORPHA:37612
HP:0001155	Abnormality of the hand	2131	EXT1	ORPHA:321
HP:0001155	Abnormality of the hand	1836	SLC26A2	ORPHA:56304
HP:0001155	Abnormality of the hand	4488	MSX2	OMIM:604757
HP:0001155	Abnormality of the hand	3782	KCNN3	OMIM:618658
HP:0001155	Abnormality of the hand	5063	PAK3	OMIM:300558
HP:0001155	Abnormality of the hand	23065	EMC1	ORPHA:480898
HP:0001155	Abnormality of the hand	23065	EMC1	OMIM:616875
HP:0001155	Abnormality of the hand	1105	CHD1	OMIM:617682
HP:0001155	Abnormality of the hand	8720	MBTPS1	OMIM:618392
HP:0001155	Abnormality of the hand	55325	UFSP2	OMIM:617974
HP:0001155	Abnormality of the hand	7317	UBA1	ORPHA:1145
HP:0001155	Abnormality of the hand	2588	GALNS	OMIM:253000
HP:0001155	Abnormality of the hand	2720	GLB1	ORPHA:79255
HP:0001155	Abnormality of the hand	3955	LFNG	OMIM:609813
HP:0001155	Abnormality of the hand	10525	HYOU1	OMIM:233600
HP:0001155	Abnormality of the hand	93587	TRMT10A	ORPHA:391408
HP:0001155	Abnormality of the hand	84919	PPP1R15B	ORPHA:391408
HP:0001155	Abnormality of the hand	11117	EMILIN1	OMIM:620080
HP:0001155	Abnormality of the hand	1499	CTNNB1	OMIM:615075
HP:0001155	Abnormality of the hand	9181	ARHGEF2	OMIM:617523
HP:0001155	Abnormality of the hand	93627	TBCK	ORPHA:488632
HP:0001155	Abnormality of the hand	93627	TBCK	OMIM:616900
HP:0001155	Abnormality of the hand	9091	PIGQ	ORPHA:1934
HP:0001155	Abnormality of the hand	2775	GNAO1	ORPHA:1934
HP:0001155	Abnormality of the hand	81603	TRIM8	ORPHA:1934
HP:0001155	Abnormality of the hand	2902	GRIN1	ORPHA:1934
HP:0001155	Abnormality of the hand	79751	SLC25A22	ORPHA:1934
HP:0001155	Abnormality of the hand	150094	SIK1	ORPHA:1934
HP:0001155	Abnormality of the hand	8573	CASK	ORPHA:1934
HP:0001155	Abnormality of the hand	23312	DMXL2	ORPHA:1934
HP:0001155	Abnormality of the hand	2917	GRM7	ORPHA:1934
HP:0001155	Abnormality of the hand	11284	PNKP	ORPHA:1934
HP:0001155	Abnormality of the hand	6326	SCN2A	ORPHA:1934
HP:0001155	Abnormality of the hand	51227	PIGP	ORPHA:1934
HP:0001155	Abnormality of the hand	6324	SCN1B	ORPHA:1934
HP:0001155	Abnormality of the hand	4761	NEUROD2	ORPHA:1934
HP:0001155	Abnormality of the hand	2617	GARS1	OMIM:600794
HP:0001155	Abnormality of the hand	2617	GARS1	ORPHA:139536
HP:0001155	Abnormality of the hand	2617	GARS1	OMIM:601472
HP:0001155	Abnormality of the hand	8985	PLOD3	OMIM:612394
HP:0001155	Abnormality of the hand	8884	SLC5A6	OMIM:619903
HP:0001155	Abnormality of the hand	5165	PDK3	ORPHA:352675
HP:0001155	Abnormality of the hand	65055	REEP1	OMIM:614751
HP:0001155	Abnormality of the hand	65055	REEP1	ORPHA:139536
HP:0001155	Abnormality of the hand	3710	ITPR3	OMIM:620111
HP:0001155	Abnormality of the hand	3425	IDUA	OMIM:607015
HP:0001155	Abnormality of the hand	80208	SPG11	OMIM:604360
HP:0001155	Abnormality of the hand	8729	GBF1	OMIM:606483
HP:0001155	Abnormality of the hand	8517	IKBKG	ORPHA:464
HP:0001155	Abnormality of the hand	3909	LAMA3	ORPHA:79404
HP:0001155	Abnormality of the hand	3918	LAMC2	ORPHA:79404
HP:0001155	Abnormality of the hand	3914	LAMB3	ORPHA:79404
HP:0001155	Abnormality of the hand	1308	COL17A1	ORPHA:79406
HP:0001155	Abnormality of the hand	1308	COL17A1	ORPHA:251393
HP:0001155	Abnormality of the hand	4312	MMP1	ORPHA:79408
HP:0001155	Abnormality of the hand	4312	MMP1	OMIM:226600
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79408
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79409
HP:0001155	Abnormality of the hand	1294	COL7A1	OMIM:226600
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79410
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79411
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:89842
HP:0001155	Abnormality of the hand	3691	ITGB4	ORPHA:251393
HP:0001155	Abnormality of the hand	54809	SAMD9	OMIM:617053
HP:0001155	Abnormality of the hand	11253	MAN1B1	ORPHA:397941
HP:0001155	Abnormality of the hand	11253	MAN1B1	OMIM:614202
HP:0001155	Abnormality of the hand	340533	NEXMIF	OMIM:300912
HP:0001155	Abnormality of the hand	1139	CHRNA7	ORPHA:199318
HP:0001155	Abnormality of the hand	1139	CHRNA7	OMIM:612001
HP:0001155	Abnormality of the hand	2132	EXT2	OMIM:616682
HP:0001155	Abnormality of the hand	6659	SOX4	OMIM:618506
HP:0001155	Abnormality of the hand	1947	EFNB1	ORPHA:1520
HP:0001155	Abnormality of the hand	1947	EFNB1	OMIM:304110
HP:0001155	Abnormality of the hand	4010	LMX1B	ORPHA:2614
HP:0001155	Abnormality of the hand	4010	LMX1B	OMIM:161200
HP:0001155	Abnormality of the hand	10054	UBA2	OMIM:619959
HP:0001155	Abnormality of the hand	51126	NAA20	OMIM:619717
HP:0001155	Abnormality of the hand	9820	CUL7	ORPHA:2616
HP:0001155	Abnormality of the hand	9820	CUL7	OMIM:273750
HP:0001155	Abnormality of the hand	23363	OBSL1	ORPHA:2616
HP:0001155	Abnormality of the hand	83987	CCDC8	ORPHA:2616
HP:0001155	Abnormality of the hand	83987	CCDC8	OMIM:614205
HP:0001155	Abnormality of the hand	7021	TFAP2B	OMIM:169100
HP:0001155	Abnormality of the hand	7021	TFAP2B	ORPHA:46627
HP:0001155	Abnormality of the hand	7021	TFAP2B	OMIM:617035
HP:0001155	Abnormality of the hand	3481	IGF2	ORPHA:231140
HP:0001155	Abnormality of the hand	3481	IGF2	ORPHA:231144
HP:0001155	Abnormality of the hand	3481	IGF2	OMIM:616489
HP:0001155	Abnormality of the hand	3481	IGF2	OMIM:180860
HP:0001155	Abnormality of the hand	3481	IGF2	ORPHA:397590
HP:0001155	Abnormality of the hand	283120	H19	ORPHA:231140
HP:0001155	Abnormality of the hand	283120	H19	ORPHA:231144
HP:0001155	Abnormality of the hand	197131	UBR1	OMIM:243800
HP:0001155	Abnormality of the hand	4286	MITF	OMIM:617306
HP:0001155	Abnormality of the hand	112752	IFT43	ORPHA:1515
HP:0001155	Abnormality of the hand	51098	IFT52	ORPHA:1515
HP:0001155	Abnormality of the hand	55764	IFT122	ORPHA:1515
HP:0001155	Abnormality of the hand	57728	WDR19	ORPHA:1515
HP:0001155	Abnormality of the hand	55636	CHD7	ORPHA:138
HP:0001155	Abnormality of the hand	9723	SEMA3E	ORPHA:138
HP:0001155	Abnormality of the hand	90	ACVR1	OMIM:135100
HP:0001155	Abnormality of the hand	90	ACVR1	ORPHA:337
HP:0001155	Abnormality of the hand	3190	HNRNPK	OMIM:616580
HP:0001155	Abnormality of the hand	10606	PAICS	OMIM:619859
HP:0001155	Abnormality of the hand	1009	CDH11	OMIM:619736
HP:0001155	Abnormality of the hand	652	BMP4	OMIM:607932
HP:0001155	Abnormality of the hand	1301	COL11A1	OMIM:228520
HP:0001155	Abnormality of the hand	1301	COL11A1	OMIM:154780
HP:0001155	Abnormality of the hand	23327	NEDD4L	OMIM:617201
HP:0001155	Abnormality of the hand	7291	TWIST1	OMIM:101400
HP:0001155	Abnormality of the hand	7291	TWIST1	ORPHA:794
HP:0001155	Abnormality of the hand	3981	LIG4	ORPHA:235
HP:0001155	Abnormality of the hand	3981	LIG4	ORPHA:99812
HP:0001155	Abnormality of the hand	3981	LIG4	OMIM:606593
HP:0001155	Abnormality of the hand	54888	NSUN2	ORPHA:235
HP:0001155	Abnormality of the hand	1182	CLCN3	OMIM:619512
HP:0001155	Abnormality of the hand	85301	COL27A1	OMIM:615155
HP:0001155	Abnormality of the hand	5048	PAFAH1B1	ORPHA:217385
HP:0001155	Abnormality of the hand	5048	PAFAH1B1	ORPHA:531
HP:0001155	Abnormality of the hand	7531	YWHAE	ORPHA:217385
HP:0001155	Abnormality of the hand	7531	YWHAE	ORPHA:531
HP:0001155	Abnormality of the hand	2121	EVC	OMIM:193530
HP:0001155	Abnormality of the hand	2121	EVC	ORPHA:952
HP:0001155	Abnormality of the hand	132884	EVC2	OMIM:193530
HP:0001155	Abnormality of the hand	132884	EVC2	ORPHA:952
HP:0001155	Abnormality of the hand	8364	H4C3	OMIM:619758
HP:0001155	Abnormality of the hand	5590	PRKCZ	ORPHA:1606
HP:0001155	Abnormality of the hand	2563	GABRD	ORPHA:1606
HP:0001155	Abnormality of the hand	8510	MMP23B	ORPHA:1606
HP:0001155	Abnormality of the hand	7798	LUZP1	ORPHA:1606
HP:0001155	Abnormality of the hand	6497	SKI	ORPHA:1606
HP:0001155	Abnormality of the hand	10630	PDPN	ORPHA:1606
HP:0001155	Abnormality of the hand	3339	HSPG2	ORPHA:1606
HP:0001155	Abnormality of the hand	10277	UBE4B	ORPHA:1606
HP:0001155	Abnormality of the hand	8514	KCNAB2	ORPHA:1606
HP:0001155	Abnormality of the hand	473	RERE	ORPHA:1606
HP:0001155	Abnormality of the hand	473	RERE	OMIM:616975
HP:0001155	Abnormality of the hand	63976	PRDM16	ORPHA:1606
HP:0001155	Abnormality of the hand	54897	CASZ1	ORPHA:1606
HP:0001155	Abnormality of the hand	641	BLM	OMIM:210900
HP:0001155	Abnormality of the hand	57492	ARID1B	ORPHA:251056
HP:0001155	Abnormality of the hand	57492	ARID1B	OMIM:135900
HP:0001155	Abnormality of the hand	63895	PIEZO2	ORPHA:376
HP:0001155	Abnormality of the hand	23314	SATB2	ORPHA:576283
HP:0001155	Abnormality of the hand	23314	SATB2	ORPHA:251028
HP:0001155	Abnormality of the hand	23314	SATB2	ORPHA:251019
HP:0001155	Abnormality of the hand	23162	MAPK8IP3	OMIM:618443
HP:0001155	Abnormality of the hand	79087	ALG12	ORPHA:79324
HP:0001155	Abnormality of the hand	6473	SHOX	ORPHA:240
HP:0001155	Abnormality of the hand	26100	WIPI2	OMIM:618453
HP:0001155	Abnormality of the hand	10533	ATG7	OMIM:619422
HP:0001155	Abnormality of the hand	8295	TRRAP	OMIM:618454
HP:0001155	Abnormality of the hand	9742	IFT140	OMIM:266920
HP:0001155	Abnormality of the hand	7227	TRPS1	ORPHA:77258
HP:0001155	Abnormality of the hand	3479	IGF1	ORPHA:73272
HP:0001155	Abnormality of the hand	3479	IGF1	OMIM:608747
HP:0001155	Abnormality of the hand	650	BMP2	OMIM:112600
HP:0001155	Abnormality of the hand	650	BMP2	ORPHA:93396
HP:0001155	Abnormality of the hand	650	BMP2	OMIM:617877
HP:0001155	Abnormality of the hand	6477	SIAH1	OMIM:619314
HP:0001155	Abnormality of the hand	8473	OGT	OMIM:300997
HP:0001155	Abnormality of the hand	1798	DPAGT1	OMIM:608093
HP:0001155	Abnormality of the hand	117581	TWIST2	OMIM:200110
HP:0001155	Abnormality of the hand	117581	TWIST2	OMIM:209885
HP:0001155	Abnormality of the hand	23030	KDM4B	OMIM:619320
HP:0001155	Abnormality of the hand	9126	SMC3	OMIM:610759
HP:0001155	Abnormality of the hand	9126	SMC3	ORPHA:199
HP:0001155	Abnormality of the hand	1725	DHPS	OMIM:618480
HP:0001155	Abnormality of the hand	55777	MBD5	OMIM:156200
HP:0001155	Abnormality of the hand	55777	MBD5	ORPHA:228402
HP:0001155	Abnormality of the hand	5980	REV3L	ORPHA:570
HP:0001155	Abnormality of the hand	23129	PLXND1	ORPHA:570
HP:0001155	Abnormality of the hand	4784	NFIX	OMIM:602535
HP:0001155	Abnormality of the hand	4998	ORC1	OMIM:224690
HP:0001155	Abnormality of the hand	4998	ORC1	ORPHA:2554
HP:0001155	Abnormality of the hand	4052	LTBP1	OMIM:619451
HP:0001155	Abnormality of the hand	8260	NAA10	OMIM:300855
HP:0001155	Abnormality of the hand	8260	NAA10	ORPHA:568
HP:0001155	Abnormality of the hand	9496	TBX4	ORPHA:261279
HP:0001155	Abnormality of the hand	8091	HMGA2	ORPHA:94063
HP:0001155	Abnormality of the hand	8091	HMGA2	ORPHA:397590
HP:0001155	Abnormality of the hand	23592	LEMD3	ORPHA:94063
HP:0001155	Abnormality of the hand	164	AP1G1	OMIM:619467
HP:0001155	Abnormality of the hand	5283	PIGH	OMIM:618010
HP:0001155	Abnormality of the hand	50801	KCNK4	OMIM:618381
HP:0001155	Abnormality of the hand	9757	KMT2B	ORPHA:589618
HP:0001155	Abnormality of the hand	4613	MYCN	ORPHA:391641
HP:0001155	Abnormality of the hand	57003	CCDC47	OMIM:618268
HP:0001155	Abnormality of the hand	5977	DPF2	OMIM:618027
HP:0001155	Abnormality of the hand	94005	PIGS	OMIM:618143
HP:0001155	Abnormality of the hand	92002	CCNQ	OMIM:300707
HP:0001155	Abnormality of the hand	92002	CCNQ	ORPHA:140952
HP:0001155	Abnormality of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0001155	Abnormality of the hand	526	ATP6V1B2	ORPHA:79500
HP:0001155	Abnormality of the hand	57465	TBC1D24	ORPHA:79500
HP:0001155	Abnormality of the hand	57465	TBC1D24	OMIM:220500
HP:0001155	Abnormality of the hand	5728	PTEN	ORPHA:744
HP:0001155	Abnormality of the hand	207	AKT1	ORPHA:744
HP:0001155	Abnormality of the hand	2887	GRB10	ORPHA:96182
HP:0001155	Abnormality of the hand	1457	CSNK2A1	OMIM:617062
HP:0001155	Abnormality of the hand	51715	RAB23	OMIM:201000
HP:0001155	Abnormality of the hand	28952	CCDC22	OMIM:300963
HP:0001155	Abnormality of the hand	90416	CCDC32	OMIM:619123
HP:0001155	Abnormality of the hand	8450	CUL4B	ORPHA:85293
HP:0001155	Abnormality of the hand	55717	WDR11	OMIM:620237
HP:0001155	Abnormality of the hand	118924	FRA10AC1	OMIM:620113
HP:0001155	Abnormality of the hand	22995	CEP152	OMIM:613823
HP:0001155	Abnormality of the hand	22995	CEP152	ORPHA:808
HP:0001155	Abnormality of the hand	3090	HIC1	ORPHA:531
HP:0001155	Abnormality of the hand	10436	EMG1	OMIM:211180
HP:0001155	Abnormality of the hand	10436	EMG1	ORPHA:1270
HP:0001155	Abnormality of the hand	23387	SIK3	OMIM:618162
HP:0001155	Abnormality of the hand	10084	PQBP1	OMIM:309500
HP:0001155	Abnormality of the hand	89970	RSPRY1	ORPHA:457395
HP:0001155	Abnormality of the hand	22800	RRAS2	ORPHA:648
HP:0001155	Abnormality of the hand	867	CBL	ORPHA:648
HP:0001155	Abnormality of the hand	8216	LZTR1	ORPHA:648
HP:0001155	Abnormality of the hand	6016	RIT1	ORPHA:648
HP:0001155	Abnormality of the hand	6237	RRAS	ORPHA:648
HP:0001155	Abnormality of the hand	5894	RAF1	ORPHA:648
HP:0001155	Abnormality of the hand	22808	MRAS	ORPHA:648
HP:0001155	Abnormality of the hand	3845	KRAS	ORPHA:648
HP:0001155	Abnormality of the hand	200734	SPRED2	ORPHA:648
HP:0001155	Abnormality of the hand	4893	NRAS	ORPHA:648
HP:0001155	Abnormality of the hand	6654	SOS1	ORPHA:648
HP:0001155	Abnormality of the hand	6655	SOS2	ORPHA:648
HP:0001155	Abnormality of the hand	5781	PTPN11	ORPHA:648
HP:0001155	Abnormality of the hand	5922	RASA2	ORPHA:648
HP:0001155	Abnormality of the hand	23522	KAT6B	ORPHA:3047
HP:0001155	Abnormality of the hand	6913	TBX15	OMIM:260660
HP:0001155	Abnormality of the hand	79023	NUP37	OMIM:618179
HP:0001155	Abnormality of the hand	375056	MIA3	OMIM:619269
HP:0001155	Abnormality of the hand	27161	AGO2	OMIM:619149
HP:0001155	Abnormality of the hand	5567	PRKACB	OMIM:619143
HP:0001155	Abnormality of the hand	221927	BRAT1	OMIM:618056
HP:0001155	Abnormality of the hand	8823	FGF16	OMIM:309630
HP:0001155	Abnormality of the hand	5518	PPP2R1A	ORPHA:457284
HP:0001155	Abnormality of the hand	161742	SPRED1	ORPHA:137605
HP:0001155	Abnormality of the hand	7337	UBE3A	ORPHA:238446
HP:0001155	Abnormality of the hand	1832	DSP	ORPHA:158687
HP:0001155	Abnormality of the hand	1832	DSP	OMIM:609638
HP:0001155	Abnormality of the hand	3728	JUP	ORPHA:158687
HP:0001155	Abnormality of the hand	23241	PACS2	OMIM:618067
HP:0001155	Abnormality of the hand	5885	RAD21	OMIM:614701
HP:0001155	Abnormality of the hand	5885	RAD21	ORPHA:199
HP:0001155	Abnormality of the hand	7518	XRCC4	ORPHA:99812
HP:0001155	Abnormality of the hand	3209	HOXA13	OMIM:140000
HP:0001155	Abnormality of the hand	3209	HOXA13	ORPHA:2438
HP:0001155	Abnormality of the hand	8854	ALDH1A2	OMIM:620025
HP:0001155	Abnormality of the hand	10274	STAG1	ORPHA:502434
HP:0001155	Abnormality of the hand	9241	NOG	ORPHA:3250
HP:0001155	Abnormality of the hand	9241	NOG	OMIM:186500
HP:0001155	Abnormality of the hand	613	BCR	ORPHA:261330
HP:0001155	Abnormality of the hand	1399	CRKL	ORPHA:261330
HP:0001155	Abnormality of the hand	89910	UBE3B	OMIM:244450
HP:0001155	Abnormality of the hand	2314	FLII	ORPHA:819
HP:0001155	Abnormality of the hand	23096	IQSEC2	ORPHA:819
HP:0001155	Abnormality of the hand	10522	DEAF1	ORPHA:819
HP:0001155	Abnormality of the hand	150468	CKAP2L	ORPHA:3255
HP:0001155	Abnormality of the hand	9184	BUB3	ORPHA:1052
HP:0001155	Abnormality of the hand	699	BUB1	ORPHA:1052
HP:0001155	Abnormality of the hand	699	BUB1	OMIM:620183
HP:0001155	Abnormality of the hand	9702	CEP57	ORPHA:1052
HP:0001155	Abnormality of the hand	9702	CEP57	OMIM:614114
HP:0001155	Abnormality of the hand	9319	TRIP13	ORPHA:1052
HP:0001155	Abnormality of the hand	701	BUB1B	ORPHA:1052
HP:0001155	Abnormality of the hand	54476	RNF216	ORPHA:1173
HP:0001155	Abnormality of the hand	10908	PNPLA6	ORPHA:1173
HP:0001155	Abnormality of the hand	23036	ZNF292	OMIM:619188
HP:0001155	Abnormality of the hand	51199	NIN	OMIM:614851
HP:0001155	Abnormality of the hand	51199	NIN	ORPHA:319675
HP:0001155	Abnormality of the hand	1954	MEGF8	OMIM:614976
HP:0001155	Abnormality of the hand	1857	DVL3	ORPHA:3107
HP:0001155	Abnormality of the hand	7474	WNT5A	ORPHA:3107
HP:0001155	Abnormality of the hand	1855	DVL1	ORPHA:3107
HP:0001155	Abnormality of the hand	2535	FZD2	ORPHA:3107
HP:0001155	Abnormality of the hand	2535	FZD2	OMIM:164745
HP:0001155	Abnormality of the hand	26053	AUTS2	OMIM:615834
HP:0001155	Abnormality of the hand	2122	MECOM	ORPHA:71289
HP:0001155	Abnormality of the hand	3207	HOXA11	ORPHA:71289
HP:0001155	Abnormality of the hand	3207	HOXA11	OMIM:605432
HP:0001155	Abnormality of the hand	81031	SLC2A10	ORPHA:3342
HP:0001155	Abnormality of the hand	55165	CEP55	OMIM:236500
HP:0001155	Abnormality of the hand	10236	HNRNPR	OMIM:620073
HP:0001155	Abnormality of the hand	6628	SNRPB	ORPHA:1393
HP:0001155	Abnormality of the hand	6628	SNRPB	OMIM:117650
HP:0001155	Abnormality of the hand	1028	CDKN1C	ORPHA:397590
HP:0001155	Abnormality of the hand	5324	PLAG1	ORPHA:397590
HP:0001155	Abnormality of the hand	9555	MACROH2A1	ORPHA:1275
HP:0001155	Abnormality of the hand	5307	PITX1	ORPHA:1275
HP:0001155	Abnormality of the hand	5422	POLA1	ORPHA:163976
HP:0001155	Abnormality of the hand	5422	POLA1	OMIM:301030
HP:0001155	Abnormality of the hand	55906	ZC4H2	ORPHA:3454
HP:0001155	Abnormality of the hand	10430	TMEM147	OMIM:620075
HP:0001155	Abnormality of the hand	23414	ZFPM2	OMIM:187500
HP:0001155	Abnormality of the hand	23414	ZFPM2	ORPHA:3303
HP:0001155	Abnormality of the hand	1482	NKX2-5	OMIM:187500
HP:0001155	Abnormality of the hand	1482	NKX2-5	ORPHA:3303
HP:0001155	Abnormality of the hand	182	JAG1	OMIM:187500
HP:0001155	Abnormality of the hand	182	JAG1	ORPHA:3303
HP:0001155	Abnormality of the hand	6899	TBX1	OMIM:187500
HP:0001155	Abnormality of the hand	6899	TBX1	ORPHA:3303
HP:0001155	Abnormality of the hand	2627	GATA6	OMIM:187500
HP:0001155	Abnormality of the hand	2627	GATA6	ORPHA:3303
HP:0001155	Abnormality of the hand	545	ATR	ORPHA:808
HP:0001155	Abnormality of the hand	545	ATR	OMIM:210600
HP:0001155	Abnormality of the hand	1062	CENPE	ORPHA:808
HP:0001155	Abnormality of the hand	5116	PCNT	ORPHA:808
HP:0001155	Abnormality of the hand	5116	PCNT	OMIM:210720
HP:0001155	Abnormality of the hand	5116	PCNT	ORPHA:2637
HP:0001155	Abnormality of the hand	79902	NUP85	ORPHA:808
HP:0001155	Abnormality of the hand	84126	ATRIP	ORPHA:808
HP:0001155	Abnormality of the hand	55835	CENPJ	ORPHA:808
HP:0001155	Abnormality of the hand	10293	TRAIP	ORPHA:808
HP:0001155	Abnormality of the hand	10733	PLK4	ORPHA:808
HP:0001155	Abnormality of the hand	29123	ANKRD11	OMIM:148050
HP:0001155	Abnormality of the hand	9775	EIF4A3	OMIM:268305
HP:0001155	Abnormality of the hand	2702	GJA5	OMIM:612474
HP:0001155	Abnormality of the hand	2702	GJA5	ORPHA:3303
HP:0001155	Abnormality of the hand	2703	GJA8	OMIM:612474
HP:0001155	Abnormality of the hand	4208	MEF2C	OMIM:613443
HP:0001155	Abnormality of the hand	22856	CHSY1	ORPHA:363417
HP:0001155	Abnormality of the hand	51621	KLF13	OMIM:612001
HP:0001155	Abnormality of the hand	5648	MASP1	OMIM:257920
HP:0001155	Abnormality of the hand	11133	KPTN	OMIM:615637
HP:0001155	Abnormality of the hand	11133	KPTN	ORPHA:397612
HP:0001155	Abnormality of the hand	137814	NKX2-6	ORPHA:3303
HP:0001155	Abnormality of the hand	3791	KDR	ORPHA:3303
HP:0001155	Abnormality of the hand	2657	GDF1	ORPHA:3303
HP:0001155	Abnormality of the hand	140628	GATA5	ORPHA:3303
HP:0001155	Abnormality of the hand	2324	FLT4	ORPHA:3303
HP:0001155	Abnormality of the hand	10370	CITED2	ORPHA:3303
HP:0001155	Abnormality of the hand	2334	AFF2	ORPHA:100973
HP:0001155	Abnormality of the hand	10847	SRCAP	OMIM:136140
HP:0001155	Abnormality of the hand	84679	SLC9A7	OMIM:301024
HP:0001155	Abnormality of the hand	10735	STAG2	OMIM:301022
HP:0001155	Abnormality of the hand	5925	RB1	ORPHA:1587
HP:0001155	Abnormality of the hand	7874	USP7	OMIM:616863
HP:0001155	Abnormality of the hand	3759	KCNJ2	OMIM:170390
HP:0001155	Abnormality of the hand	81620	CDT1	ORPHA:2554
HP:0001155	Abnormality of the hand	5000	ORC4	ORPHA:2554
HP:0001155	Abnormality of the hand	23594	ORC6	ORPHA:2554
HP:0001155	Abnormality of the hand	990	CDC6	ORPHA:2554
HP:0001155	Abnormality of the hand	51053	GMNN	ORPHA:2554
HP:0001155	Abnormality of the hand	25	ABL1	OMIM:617602
HP:0001155	Abnormality of the hand	29980	DONSON	OMIM:617604
HP:0001155	Abnormality of the hand	6638	SNRPN	ORPHA:177907
HP:0001155	Abnormality of the hand	23476	BRD4	ORPHA:199
HP:0001155	Abnormality of the hand	10664	CTCF	ORPHA:363611
HP:0001155	Abnormality of the hand	22931	RAB18	OMIM:614222
HP:0001155	Abnormality of the hand	490	ATP2B1	OMIM:619910
HP:0001155	Abnormality of the hand	284252	KCTD1	OMIM:181270
HP:0001155	Abnormality of the hand	54870	QRICH1	OMIM:617982
HP:0001155	Abnormality of the hand	139285	AMER1	OMIM:300373
HP:0001155	Abnormality of the hand	4841	NONO	ORPHA:466791
HP:0001155	Abnormality of the hand	1663	DDX11	OMIM:613398
HP:0001155	Abnormality of the hand	2186	BPTF	OMIM:617755
HP:0001155	Abnormality of the hand	59341	TRPV4	ORPHA:2635
HP:0001155	Abnormality of the hand	10225	CD96	ORPHA:1308
HP:0001155	Abnormality of the hand	4848	CNOT2	OMIM:618608
HP:0001155	Abnormality of the hand	64131	XYLT1	ORPHA:1425
HP:0001155	Abnormality of the hand	124583	CANT1	ORPHA:1425
HP:0001155	Abnormality of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0001155	Abnormality of the hand	4204	MECP2	OMIM:300260
HP:0001155	Abnormality of the hand	55553	SOX6	OMIM:618971
HP:0001155	Abnormality of the hand	84148	KAT8	OMIM:618974
HP:0001155	Abnormality of the hand	58499	ZNF462	OMIM:618619
HP:0001155	Abnormality of the hand	6598	SMARCB1	OMIM:614608
HP:0001155	Abnormality of the hand	84068	SLC10A7	OMIM:618363
HP:0001155	Abnormality of the hand	5144	PDE4D	OMIM:614613
HP:0001155	Abnormality of the hand	54187	NANS	OMIM:610442
HP:0001155	Abnormality of the hand	23169	SLC35D1	OMIM:269250
HP:0001155	Abnormality of the hand	9451	EIF2AK3	OMIM:226980
HP:0001155	Abnormality of the hand	10568	SLC34A2	ORPHA:60025
HP:0001155	Abnormality of the hand	3417	IDH1	ORPHA:99646
HP:0001155	Abnormality of the hand	8838	CCN6	ORPHA:1159
HP:0001155	Abnormality of the hand	4148	MATN3	ORPHA:93311
HP:0001155	Abnormality of the hand	3480	IGF1R	ORPHA:73273
HP:0001155	Abnormality of the hand	2879	GPX4	ORPHA:93317
HP:0001155	Abnormality of the hand	124997	WDR81	OMIM:610185
HP:0001155	Abnormality of the hand	118429	ANTXR2	ORPHA:2176
HP:0001155	Abnormality of the hand	79639	TMEM53	OMIM:619727
HP:0001155	Abnormality of the hand	55249	YY1AP1	ORPHA:79094
HP:0001155	Abnormality of the hand	6023	RMRP	ORPHA:175
HP:0001155	Abnormality of the hand	6023	RMRP	OMIM:607095
HP:0001155	Abnormality of the hand	6023	RMRP	OMIM:250250
HP:0001155	Abnormality of the hand	818	CAMK2G	OMIM:618522
HP:0001155	Abnormality of the hand	4054	LTBP3	ORPHA:969
HP:0001155	Abnormality of the hand	222663	SCUBE3	OMIM:619184
HP:0001155	Abnormality of the hand	80311	KLHL15	OMIM:300982
HP:0001155	Abnormality of the hand	4000	LMNA	ORPHA:79474
HP:0001155	Abnormality of the hand	2254	FGF9	ORPHA:3237
HP:0001155	Abnormality of the hand	6885	MAP3K7	ORPHA:3238
HP:0001155	Abnormality of the hand	9321	TRIP11	ORPHA:166272
HP:0001155	Abnormality of the hand	9321	TRIP11	ORPHA:93299
HP:0001155	Abnormality of the hand	6905	TBCE	OMIM:241410
HP:0001155	Abnormality of the hand	6905	TBCE	OMIM:244460
HP:0001155	Abnormality of the hand	10013	HDAC6	ORPHA:163966
HP:0001155	Abnormality of the hand	9719	ADAMTSL2	OMIM:231050
HP:0001155	Abnormality of the hand	1298	COL9A2	OMIM:600204
HP:0001155	Abnormality of the hand	5159	PDGFRB	OMIM:601812
HP:0001155	Abnormality of the hand	28957	MRPS28	OMIM:618958
HP:0001155	Abnormality of the hand	23261	CAMTA1	OMIM:614756
HP:0001155	Abnormality of the hand	25839	COG4	ORPHA:85172
HP:0001155	Abnormality of the hand	5295	PIK3R1	ORPHA:3163
HP:0001155	Abnormality of the hand	8813	DPM1	OMIM:608799
HP:0001155	Abnormality of the hand	51322	WAC	ORPHA:466950
HP:0001155	Abnormality of the hand	147372	CCBE1	OMIM:235510
HP:0001155	Abnormality of the hand	4692	NDN	ORPHA:177910
HP:0001155	Abnormality of the hand	7681	MKRN3	OMIM:176270
HP:0001155	Abnormality of the hand	3653	IPW	OMIM:176270
HP:0001155	Abnormality of the hand	791114	PWRN1	OMIM:176270
HP:0001155	Abnormality of the hand	100033413	SNORD116-1	OMIM:176270
HP:0001155	Abnormality of the hand	8924	HERC2	OMIM:176270
HP:0001155	Abnormality of the hand	145624	PWAR1	OMIM:176270
HP:0001155	Abnormality of the hand	23742	NPAP1	OMIM:176270
HP:0001155	Abnormality of the hand	338433	SNORD115-1	OMIM:176270
HP:0001155	Abnormality of the hand	579	NKX3-2	OMIM:613330
HP:0001155	Abnormality of the hand	324	APC	ORPHA:3258
HP:0001155	Abnormality of the hand	162514	TRPV3	OMIM:616400
HP:0001155	Abnormality of the hand	55628	ZNF407	OMIM:619557
HP:0001155	Abnormality of the hand	23219	FBXO28	OMIM:619777
HP:0001155	Abnormality of the hand	84265	POLR3GL	OMIM:619234
HP:0001155	Abnormality of the hand	3798	KIF5A	ORPHA:100991
HP:0001155	Abnormality of the hand	5281	PIGF	OMIM:619356
HP:0001155	Abnormality of the hand	1311	COMP	ORPHA:750
HP:0001155	Abnormality of the hand	4882	NPR2	OMIM:615923
HP:0001155	Abnormality of the hand	11011	TLK2	OMIM:618050
HP:0001155	Abnormality of the hand	5932	RBBP8	OMIM:251255
HP:0001155	Abnormality of the hand	51305	KCNK9	ORPHA:166108
HP:0001155	Abnormality of the hand	825	CAPN3	ORPHA:267
HP:0001155	Abnormality of the hand	10216	PRG4	OMIM:208250
HP:0001155	Abnormality of the hand	4323	MMP14	ORPHA:371428
HP:0001155	Abnormality of the hand	9130	FAM50A	OMIM:300261
HP:0001155	Abnormality of the hand	8139	GAN	ORPHA:643
HP:0001155	Abnormality of the hand	9365	KL	OMIM:617994
HP:0001155	Abnormality of the hand	4233	MET	OMIM:620019
HP:0001155	Abnormality of the hand	6678	SPARC	OMIM:616507
HP:0001155	Abnormality of the hand	54681	P4HTM	OMIM:618493
HP:0001155	Abnormality of the hand	128674	PROKR2	OMIM:244200
HP:0001155	Abnormality of the hand	3373	HYAL1	OMIM:601492
HP:0001155	Abnormality of the hand	84720	PIGO	ORPHA:247262
HP:0001155	Abnormality of the hand	84720	PIGO	OMIM:614749
HP:0001155	Abnormality of the hand	93210	PGAP3	ORPHA:247262
HP:0001155	Abnormality of the hand	93210	PGAP3	OMIM:615716
HP:0001155	Abnormality of the hand	284098	PIGW	ORPHA:247262
HP:0001155	Abnormality of the hand	27315	PGAP2	ORPHA:247262
HP:0001155	Abnormality of the hand	27315	PGAP2	OMIM:614207
HP:0001155	Abnormality of the hand	29929	ALG6	ORPHA:79320
HP:0001155	Abnormality of the hand	2990	GUSB	OMIM:253220
HP:0001155	Abnormality of the hand	10558	SPTLC1	OMIM:162400
HP:0001155	Abnormality of the hand	22948	CCT5	OMIM:256840
HP:0001155	Abnormality of the hand	22948	CCT5	ORPHA:139578
HP:0001155	Abnormality of the hand	4803	NGF	OMIM:608654
HP:0001155	Abnormality of the hand	3376	IARS1	ORPHA:541423
HP:0001155	Abnormality of the hand	79068	FTO	OMIM:612938
HP:0001155	Abnormality of the hand	4256	MGP	OMIM:245150
HP:0001155	Abnormality of the hand	5830	PEX5	OMIM:616716
HP:0001155	Abnormality of the hand	6583	SLC22A4	OMIM:180300
HP:0001155	Abnormality of the hand	4261	CIITA	OMIM:180300
HP:0001155	Abnormality of the hand	51744	CD244	OMIM:180300
HP:0001155	Abnormality of the hand	4795	NFKBIL1	OMIM:180300
HP:0001155	Abnormality of the hand	3586	IL10	OMIM:180300
HP:0001155	Abnormality of the hand	56098	PCDHGC4	OMIM:619880
HP:0001155	Abnormality of the hand	26278	SACS	OMIM:270550
HP:0001155	Abnormality of the hand	4041	LRP5	OMIM:144750
HP:0001155	Abnormality of the hand	4853	NOTCH2	OMIM:102500
HP:0001155	Abnormality of the hand	7994	KAT6A	OMIM:616268
HP:0001155	Abnormality of the hand	1297	COL9A1	ORPHA:166002
HP:0001155	Abnormality of the hand	1299	COL9A3	ORPHA:166002
HP:0001155	Abnormality of the hand	55252	ASXL2	OMIM:617190
HP:0001155	Abnormality of the hand	8036	SHOC2	OMIM:607721
HP:0001155	Abnormality of the hand	65082	VPS33A	ORPHA:505248
HP:0001155	Abnormality of the hand	8558	CDK10	OMIM:617694
HP:0001155	Abnormality of the hand	29957	SLC25A24	OMIM:612289
HP:0001155	Abnormality of the hand	5604	MAP2K1	ORPHA:1340
HP:0001155	Abnormality of the hand	5605	MAP2K2	ORPHA:1340
HP:0001155	Abnormality of the hand	283209	PGM2L1	OMIM:620191
HP:0001155	Abnormality of the hand	10651	MTX2	OMIM:619127
HP:0001155	Abnormality of the hand	1806	DPYD	ORPHA:1675
HP:0001155	Abnormality of the hand	2475	MTOR	OMIM:616638
HP:0001155	Abnormality of the hand	9987	HNRNPDL	OMIM:609115
HP:0001155	Abnormality of the hand	3848	KRT1	ORPHA:530838
HP:0001155	Abnormality of the hand	7466	WFS1	OMIM:222300
HP:0001155	Abnormality of the hand	64135	IFIH1	OMIM:182250
HP:0001155	Abnormality of the hand	54829	ASPN	OMIM:607850
HP:0001155	Abnormality of the hand	1302	COL11A2	OMIM:215150
HP:0001155	Abnormality of the hand	6597	SMARCA4	OMIM:614609
HP:0001155	Abnormality of the hand	1290	COL5A2	ORPHA:287
HP:0001155	Abnormality of the hand	1508	CTSB	OMIM:148370
HP:0001155	Abnormality of the hand	80326	WNT10A	OMIM:150400
HP:0001155	Abnormality of the hand	80326	WNT10A	OMIM:257980
HP:0001155	Abnormality of the hand	8710	SERPINB7	OMIM:615598
HP:0001155	Abnormality of the hand	64065	PERP	ORPHA:659
HP:0001155	Abnormality of the hand	284654	RSPO1	OMIM:610644
HP:0001155	Abnormality of the hand	1041	CDSN	OMIM:270300
HP:0001155	Abnormality of the hand	5317	PKP1	OMIM:604536
HP:0001155	Abnormality of the hand	3868	KRT16	ORPHA:2309
HP:0001155	Abnormality of the hand	3872	KRT17	ORPHA:2309
HP:0001155	Abnormality of the hand	3853	KRT6A	ORPHA:2309
HP:0001155	Abnormality of the hand	3854	KRT6B	ORPHA:2309
HP:0001155	Abnormality of the hand	5339	PLEC	ORPHA:79401
HP:0001155	Abnormality of the hand	1828	DSG1	OMIM:148700
HP:0001155	Abnormality of the hand	362	AQP5	OMIM:600231
HP:0001155	Abnormality of the hand	362	AQP5	ORPHA:2337
HP:0001155	Abnormality of the hand	145264	SERPINA12	ORPHA:86923
HP:0001155	Abnormality of the hand	54800	KLHL24	OMIM:617294
HP:0001155	Abnormality of the hand	9342	SNAP29	ORPHA:66631
HP:0001155	Abnormality of the hand	79651	RHBDF2	OMIM:148500
HP:0001155	Abnormality of the hand	3857	KRT9	ORPHA:2199
HP:0001155	Abnormality of the hand	2706	GJB2	ORPHA:494
HP:0001155	Abnormality of the hand	2706	GJB2	OMIM:124500
HP:0001155	Abnormality of the hand	7051	TGM1	ORPHA:100976
HP:0001155	Abnormality of the hand	9517	SPTLC2	OMIM:613640
HP:0001155	Abnormality of the hand	4914	NTRK1	OMIM:256800
HP:0001155	Abnormality of the hand	11277	TREX1	OMIM:610448
HP:0001155	Abnormality of the hand	51062	ATL1	OMIM:613708
HP:0001155	Abnormality of the hand	4014	LORICRIN	OMIM:604117
HP:0001155	Abnormality of the hand	4014	LORICRIN	ORPHA:79395
HP:0001155	Abnormality of the hand	51371	POMP	OMIM:601952
HP:0001155	Abnormality of the hand	23545	ATP6V0A2	OMIM:278250
HP:0001155	Abnormality of the hand	5167	ENPP1	OMIM:615522
HP:0001155	Abnormality of the hand	488	ATP2A2	OMIM:101900
HP:0001155	Abnormality of the hand	488	ATP2A2	ORPHA:79151
HP:0001155	Abnormality of the hand	3861	KRT14	ORPHA:69087
HP:0001155	Abnormality of the hand	831	CAST	OMIM:616295
HP:0001155	Abnormality of the hand	79719	AAGAB	OMIM:148600
HP:0001155	Abnormality of the hand	26276	VPS33B	OMIM:620009
HP:0001155	Abnormality of the hand	5792	PTPRF	OMIM:616001
HP:0001155	Abnormality of the hand	283989	TSEN54	ORPHA:2524
HP:0001155	Abnormality of the hand	116461	TSEN15	ORPHA:2524
HP:0001155	Abnormality of the hand	79042	TSEN34	ORPHA:2524
HP:0001155	Abnormality of the hand	51091	SEPSECS	ORPHA:2524
HP:0001155	Abnormality of the hand	129563	DIS3L2	ORPHA:2849
HP:0001155	Abnormality of the hand	55670	PEX26	ORPHA:44
HP:0001155	Abnormality of the hand	5824	PEX19	ORPHA:44
HP:0001155	Abnormality of the hand	8504	PEX3	ORPHA:44
HP:0001155	Abnormality of the hand	9409	PEX16	ORPHA:44
HP:0001155	Abnormality of the hand	8799	PEX11B	ORPHA:44
HP:0001155	Abnormality of the hand	5194	PEX13	ORPHA:44
HP:0001155	Abnormality of the hand	5195	PEX14	ORPHA:44
HP:0001155	Abnormality of the hand	5192	PEX10	ORPHA:44
HP:0001155	Abnormality of the hand	23511	NUP188	OMIM:618804
HP:0001155	Abnormality of the hand	9333	TGM5	ORPHA:263534
HP:0001155	Abnormality of the hand	1475	CSTA	ORPHA:263534
HP:0001155	Abnormality of the hand	23321	TRIM2	OMIM:615490
HP:0001155	Abnormality of the hand	1678	TIMM8A	OMIM:304700
HP:0001155	Abnormality of the hand	400916	CHCHD10	ORPHA:276435
HP:0001155	Abnormality of the hand	55958	KLHL9	ORPHA:399081
HP:0001155	Abnormality of the hand	10280	SIGMAR1	OMIM:614373
HP:0001155	Abnormality of the hand	7415	VCP	ORPHA:329478
HP:0001155	Abnormality of the hand	7415	VCP	OMIM:616687
HP:0001155	Abnormality of the hand	81545	FBXO38	OMIM:615575
HP:0001155	Abnormality of the hand	57863	CADM3	OMIM:619519
HP:0001155	Abnormality of the hand	6786	STIM1	OMIM:160565
HP:0001155	Abnormality of the hand	7273	TTN	ORPHA:609
HP:0001155	Abnormality of the hand	8878	SQSTM1	ORPHA:603
HP:0001155	Abnormality of the hand	7072	TIA1	ORPHA:603
HP:0001155	Abnormality of the hand	11155	LDB3	ORPHA:98912
HP:0001155	Abnormality of the hand	6329	SCN4A	ORPHA:98913
HP:0001155	Abnormality of the hand	1134	CHRNA1	ORPHA:98913
HP:0001155	Abnormality of the hand	4038	LRP4	ORPHA:98913
HP:0001155	Abnormality of the hand	1305	COL13A1	ORPHA:98913
HP:0001155	Abnormality of the hand	1140	CHRNB1	ORPHA:98913
HP:0001155	Abnormality of the hand	1144	CHRND	ORPHA:98913
HP:0001155	Abnormality of the hand	1145	CHRNE	ORPHA:98913
HP:0001155	Abnormality of the hand	4593	MUSK	ORPHA:98913
HP:0001155	Abnormality of the hand	5913	RAPSN	ORPHA:98913
HP:0001155	Abnormality of the hand	375790	AGRN	ORPHA:98913
HP:0001155	Abnormality of the hand	221264	AK9	ORPHA:98913
HP:0001155	Abnormality of the hand	285489	DOK7	ORPHA:98913
HP:0001155	Abnormality of the hand	10020	GNE	ORPHA:602
HP:0001155	Abnormality of the hand	4625	MYH7	OMIM:160500
HP:0001155	Abnormality of the hand	57679	ALS2	OMIM:205100
HP:0001155	Abnormality of the hand	80199	FUZ	ORPHA:1136
HP:0001155	Abnormality of the hand	10342	TFG	OMIM:615658
HP:0001155	Abnormality of the hand	89874	SLC25A21	OMIM:618811
HP:0001155	Abnormality of the hand	113278	SLC52A3	OMIM:211530
HP:0001155	Abnormality of the hand	2395	FXN	ORPHA:95
HP:0001155	Abnormality of the hand	368	ABCC6	ORPHA:51608
HP:0001155	Abnormality of the hand	79912	PYROXD1	OMIM:617258
HP:0001155	Abnormality of the hand	10093	ARPC4	OMIM:620141
HP:0001155	Abnormality of the hand	56992	KIF15	ORPHA:261323
HP:0001155	Abnormality of the hand	6601	SMARCC2	ORPHA:1465
HP:0001155	Abnormality of the hand	6602	SMARCD1	ORPHA:1465
HP:0001155	Abnormality of the hand	196528	ARID2	ORPHA:1465
HP:0001155	Abnormality of the hand	5879	RAC1	ORPHA:500159
HP:0001155	Abnormality of the hand	5286	PIK3C2A	ORPHA:557003
HP:0001155	Abnormality of the hand	1327	COX4I1	OMIM:619060
HP:0001155	Abnormality of the hand	7403	KDM6A	OMIM:300867
HP:0001155	Abnormality of the hand	7403	KDM6A	ORPHA:2322
HP:0001155	Abnormality of the hand	7403	KDM6A	OMIM:147920
HP:0001155	Abnormality of the hand	8085	KMT2D	ORPHA:2322
HP:0001155	Abnormality of the hand	8085	KMT2D	OMIM:147920
HP:0001155	Abnormality of the hand	23291	FBXW11	OMIM:618914
HP:0001155	Abnormality of the hand	10765	KDM5B	OMIM:618109
HP:0001155	Abnormality of the hand	6909	TBX2	OMIM:618223
HP:0001155	Abnormality of the hand	50814	NSDHL	OMIM:308050
HP:0001155	Abnormality of the hand	2019	EN1	OMIM:619218
HP:0001155	Abnormality of the hand	50945	TBX22	ORPHA:921
HP:0001155	Abnormality of the hand	9382	COG1	OMIM:611209
HP:0001155	Abnormality of the hand	101929726	MYMX	ORPHA:1358
HP:0001155	Abnormality of the hand	1277	COL1A1	OMIM:130060
HP:0001155	Abnormality of the hand	1718	DHCR24	OMIM:602398
HP:0001155	Abnormality of the hand	1235	CCR6	ORPHA:220402
HP:0001155	Abnormality of the hand	79932	KIAA0319L	ORPHA:220402
HP:0001155	Abnormality of the hand	1490	CCN2	ORPHA:220402
HP:0001155	Abnormality of the hand	3663	IRF5	ORPHA:220402
HP:0001155	Abnormality of the hand	3123	HLA-DRB1	ORPHA:220402
HP:0001155	Abnormality of the hand	113179	ADAT3	ORPHA:363528
HP:0001155	Abnormality of the hand	9215	LARGE1	OMIM:608840
HP:0001155	Abnormality of the hand	7390	UROS	OMIM:263700
HP:0001155	Abnormality of the hand	10381	TUBB3	OMIM:600638
HP:0001155	Abnormality of the hand	3572	IL6ST	OMIM:618523
HP:0001155	Abnormality of the hand	57449	PLEKHG5	OMIM:611067
HP:0001155	Abnormality of the hand	28982	FLVCR1	OMIM:609033
HP:0001155	Abnormality of the hand	55131	RBM28	ORPHA:157954
HP:0001155	Abnormality of the hand	55131	RBM28	OMIM:612079
HP:0001155	Abnormality of the hand	4123	MAN2C1	OMIM:619775
HP:0001155	Abnormality of the hand	79796	ALG9	ORPHA:79328
HP:0001155	Abnormality of the hand	79796	ALG9	OMIM:263210
HP:0001155	Abnormality of the hand	22858	CILK1	OMIM:612651
HP:0001155	Abnormality of the hand	80144	FRAS1	OMIM:219000
HP:0001155	Abnormality of the hand	5053	PAH	ORPHA:2209
HP:0001155	Abnormality of the hand	55280	CWF19L1	ORPHA:453521
HP:0001155	Abnormality of the hand	8314	BAP1	OMIM:619762
HP:0001155	Abnormality of the hand	4247	MGAT2	OMIM:212066
HP:0001155	Abnormality of the hand	5293	PIK3CD	ORPHA:221139
HP:0001155	Abnormality of the hand	90417	KNSTRN	ORPHA:221139
HP:0001155	Abnormality of the hand	2778	GNAS	ORPHA:79445
HP:0001155	Abnormality of the hand	26092	TOR1AIP1	OMIM:617072
HP:0001155	Abnormality of the hand	6662	SOX9	OMIM:114290
HP:0001155	Abnormality of the hand	64682	ANAPC1	ORPHA:221008
HP:0001155	Abnormality of the hand	6938	TCF12	ORPHA:35099
HP:0001155	Abnormality of the hand	7545	ZIC1	ORPHA:35099
HP:0001155	Abnormality of the hand	2192	FBLN1	OMIM:608180
HP:0001155	Abnormality of the hand	23586	RIGI	OMIM:616298
HP:0001155	Abnormality of the hand	25923	ATL3	OMIM:615632
HP:0001155	Abnormality of the hand	4626	MYH8	ORPHA:3377
HP:0001155	Abnormality of the hand	340419	RSPO2	OMIM:618022
HP:0001155	Abnormality of the hand	8452	CUL3	OMIM:619239
HP:0001155	Abnormality of the hand	407975	MIR17HG	ORPHA:391646
HP:0001155	Abnormality of the hand	4053	LTBP2	ORPHA:3449
HP:0001155	Abnormality of the hand	3590	IL11RA	OMIM:614188
HP:0001155	Abnormality of the hand	1807	DPYS	OMIM:222748
HP:0001155	Abnormality of the hand	9509	ADAMTS2	OMIM:225410
HP:0001155	Abnormality of the hand	9653	HS2ST1	OMIM:619194
HP:0001155	Abnormality of the hand	55209	SETD5	ORPHA:404440
HP:0001155	Abnormality of the hand	55209	SETD5	OMIM:615761
HP:0001155	Abnormality of the hand	50964	SOST	ORPHA:3152
HP:0001155	Abnormality of the hand	1513	CTSK	ORPHA:763
HP:0001155	Abnormality of the hand	1513	CTSK	OMIM:265800
HP:0001155	Abnormality of the hand	8815	BANF1	OMIM:614008
HP:0001155	Abnormality of the hand	9469	CHST3	OMIM:245600
HP:0001155	Abnormality of the hand	26229	B3GAT3	OMIM:245600
HP:0001155	Abnormality of the hand	10617	STAMBP	OMIM:614261
HP:0001155	Abnormality of the hand	2335	FN1	ORPHA:93315
HP:0001155	Abnormality of the hand	51412	ACTL6B	OMIM:618470
HP:0001155	Abnormality of the hand	55784	MCTP2	ORPHA:1596
HP:0001155	Abnormality of the hand	5744	PTHLH	ORPHA:93387
HP:0001155	Abnormality of the hand	3764	KCNJ8	ORPHA:1517
HP:0001155	Abnormality of the hand	10060	ABCC9	ORPHA:1517
HP:0001155	Abnormality of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0001155	Abnormality of the hand	24140	FTSJ1	OMIM:309549
HP:0001155	Abnormality of the hand	54496	PRMT7	OMIM:617157
HP:0001155	Abnormality of the hand	8289	ARID1A	OMIM:614607
HP:0001155	Abnormality of the hand	9419	CRIPT	OMIM:615789
HP:0001155	Abnormality of the hand	54	ACP5	ORPHA:1855
HP:0001155	Abnormality of the hand	1300	COL10A1	OMIM:156500
HP:0001155	Abnormality of the hand	2677	GGCX	OMIM:277450
HP:0001155	Abnormality of the hand	10283	CWC27	OMIM:250410
HP:0001155	Abnormality of the hand	415	ARSL	ORPHA:79345
HP:0001155	Abnormality of the hand	415	ARSL	OMIM:302950
HP:0001155	Abnormality of the hand	26137	ZBTB20	OMIM:259050
HP:0001155	Abnormality of the hand	60401	EDA2R	ORPHA:181
HP:0001155	Abnormality of the hand	1896	EDA	ORPHA:181
HP:0001155	Abnormality of the hand	1186	CLCN7	ORPHA:53
HP:0001155	Abnormality of the hand	6664	SOX11	OMIM:615866
HP:0001155	Abnormality of the hand	55081	IFT57	OMIM:617927
HP:0001155	Abnormality of the hand	25886	POC1A	OMIM:614813
HP:0001155	Abnormality of the hand	865	CBFB	OMIM:620099
HP:0001155	Abnormality of the hand	6711	SPTBN1	OMIM:619475
HP:0001155	Abnormality of the hand	71	ACTG1	ORPHA:2995
HP:0001155	Abnormality of the hand	60	ACTB	ORPHA:2995
HP:0001155	Abnormality of the hand	6135	RPL11	ORPHA:124
HP:0001155	Abnormality of the hand	6138	RPL15	ORPHA:124
HP:0001155	Abnormality of the hand	6229	RPS24	ORPHA:124
HP:0001155	Abnormality of the hand	6125	RPL5	ORPHA:124
HP:0001155	Abnormality of the hand	6204	RPS10	ORPHA:124
HP:0001155	Abnormality of the hand	6224	RPS20	ORPHA:124
HP:0001155	Abnormality of the hand	6165	RPL35A	ORPHA:124
HP:0001155	Abnormality of the hand	6223	RPS19	ORPHA:124
HP:0001155	Abnormality of the hand	6223	RPS19	OMIM:105650
HP:0001155	Abnormality of the hand	6232	RPS27	ORPHA:124
HP:0001155	Abnormality of the hand	6231	RPS26	ORPHA:124
HP:0001155	Abnormality of the hand	11224	RPL35	ORPHA:124
HP:0001155	Abnormality of the hand	6160	RPL31	ORPHA:124
HP:0001155	Abnormality of the hand	6218	RPS17	ORPHA:124
HP:0001155	Abnormality of the hand	6201	RPS7	ORPHA:124
HP:0001155	Abnormality of the hand	6155	RPL27	ORPHA:124
HP:0001155	Abnormality of the hand	6210	RPS15A	ORPHA:124
HP:0001155	Abnormality of the hand	90121	TSR2	ORPHA:124
HP:0001155	Abnormality of the hand	6141	RPL18	ORPHA:124
HP:0001155	Abnormality of the hand	6235	RPS29	ORPHA:124
HP:0001155	Abnormality of the hand	6234	RPS28	ORPHA:124
HP:0001155	Abnormality of the hand	51816	ADA2	ORPHA:124
HP:0001155	Abnormality of the hand	10992	SF3B2	OMIM:164210
HP:0001155	Abnormality of the hand	27152	INTU	OMIM:617926
HP:0001155	Abnormality of the hand	57020	VPS35L	OMIM:619135
HP:0001155	Abnormality of the hand	3911	LAMA5	OMIM:620076
HP:0001155	Abnormality of the hand	6736	SRY	ORPHA:1772
HP:0001155	Abnormality of the hand	79633	FAT4	OMIM:615546
HP:0001155	Abnormality of the hand	8642	DCHS1	OMIM:601390
HP:0001155	Abnormality of the hand	26224	FBXL3	OMIM:606220
HP:0001155	Abnormality of the hand	55612	FERMT1	ORPHA:2908
HP:0001155	Abnormality of the hand	9361	LONP1	OMIM:600373
HP:0001155	Abnormality of the hand	9361	LONP1	ORPHA:1458
HP:0001155	Abnormality of the hand	55733	HHAT	OMIM:600092
HP:0001155	Abnormality of the hand	55733	HHAT	ORPHA:1422
HP:0001155	Abnormality of the hand	114803	MYSM1	ORPHA:508542
HP:0001155	Abnormality of the hand	149775	GNAS-AS1	OMIM:603233
HP:0001155	Abnormality of the hand	8675	STX16	OMIM:603233
HP:0001155	Abnormality of the hand	64175	P3H1	OMIM:610915
HP:0001155	Abnormality of the hand	5139	PDE3A	OMIM:112410
HP:0001155	Abnormality of the hand	5139	PDE3A	ORPHA:1276
HP:0001155	Abnormality of the hand	5593	PRKG2	OMIM:619636
HP:0001155	Abnormality of the hand	4810	NHS	ORPHA:627
HP:0001155	Abnormality of the hand	5130	PCYT1A	ORPHA:85167
HP:0001155	Abnormality of the hand	5130	PCYT1A	OMIM:608940
HP:0001155	Abnormality of the hand	54928	BPNT2	OMIM:614078
HP:0001155	Abnormality of the hand	5264	PHYH	ORPHA:773
HP:0001155	Abnormality of the hand	5191	PEX7	ORPHA:773
HP:0001155	Abnormality of the hand	1788	DNMT3A	OMIM:618724
HP:0001155	Abnormality of the hand	54101	RIPK4	OMIM:263650
HP:0001155	Abnormality of the hand	83452	RAB33B	OMIM:615222
HP:0001155	Abnormality of the hand	25871	NEPRO	OMIM:618853
HP:0001155	Abnormality of the hand	2074	ERCC6	OMIM:133540
HP:0001155	Abnormality of the hand	1161	ERCC8	OMIM:216400
HP:0001155	Abnormality of the hand	29926	GMPPA	ORPHA:869
HP:0001155	Abnormality of the hand	60684	TRAPPC11	ORPHA:869
HP:0001155	Abnormality of the hand	8086	AAAS	ORPHA:869
HP:0001155	Abnormality of the hand	121512	FGD4	OMIM:609311
HP:0001155	Abnormality of the hand	4927	NUP88	ORPHA:994
HP:0001155	Abnormality of the hand	7846	TUBA1A	ORPHA:994
HP:0001155	Abnormality of the hand	6572	SLC18A3	ORPHA:994
HP:0001155	Abnormality of the hand	22884	WDR37	OMIM:618652
HP:0001155	Abnormality of the hand	80347	COASY	OMIM:618266
HP:0001155	Abnormality of the hand	348180	CTU2	OMIM:618142
HP:0001155	Abnormality of the hand	256297	PTF1A	OMIM:609069
HP:0001155	Abnormality of the hand	129285	PPP1R21	OMIM:619383
HP:0001155	Abnormality of the hand	8567	MADD	OMIM:619004
HP:0001155	Abnormality of the hand	5297	PI4KA	OMIM:616531
HP:0001155	Abnormality of the hand	5297	PI4KA	OMIM:619708
HP:0001155	Abnormality of the hand	1822	ATN1	OMIM:618494
HP:0001155	Abnormality of the hand	5591	PRKDC	OMIM:615966
HP:0001155	Abnormality of the hand	10519	CIB1	OMIM:618267
HP:0001155	Abnormality of the hand	81607	NECTIN4	OMIM:613573
HP:0001155	Abnormality of the hand	10059	DNM1L	OMIM:614388
HP:0001155	Abnormality of the hand	29998	BICRA	OMIM:619325
HP:0001155	Abnormality of the hand	176	ACAN	OMIM:612813
HP:0001155	Abnormality of the hand	176	ACAN	ORPHA:171866
HP:0001155	Abnormality of the hand	51132	RLIM	OMIM:300978
HP:0001155	Abnormality of the hand	92579	G6PC3	OMIM:612541
HP:0001155	Abnormality of the hand	5718	PSMD12	ORPHA:529962
HP:0001155	Abnormality of the hand	4212	MEIS2	OMIM:600987
HP:0001155	Abnormality of the hand	23126	POGZ	OMIM:616364
HP:0001155	Abnormality of the hand	285362	SUMF1	OMIM:272200
HP:0001155	Abnormality of the hand	285362	SUMF1	ORPHA:585
HP:0001155	Abnormality of the hand	79759	ZNF668	OMIM:620194
HP:0001155	Abnormality of the hand	60529	ALX4	ORPHA:60015
HP:0001155	Abnormality of the hand	79989	IFT56	OMIM:619534
HP:0001155	Abnormality of the hand	23404	EXOSC2	OMIM:617763
HP:0001155	Abnormality of the hand	5587	PRKD1	OMIM:617364
HP:0001155	Abnormality of the hand	7528	YY1	ORPHA:506358
HP:0001155	Abnormality of the hand	654	BMP6	ORPHA:465508
HP:0001155	Abnormality of the hand	3077	HFE	ORPHA:465508
HP:0001155	Abnormality of the hand	3835	KIF22	OMIM:603546
HP:0001155	Abnormality of the hand	6840	SVIL	OMIM:619040
HP:0001155	Abnormality of the hand	342035	GLDN	OMIM:617194
HP:0001155	Abnormality of the hand	57190	SELENON	ORPHA:2020
HP:0001155	Abnormality of the hand	4633	MYL2	ORPHA:2020
HP:0001155	Abnormality of the hand	3679	ITGA7	ORPHA:2020
HP:0001155	Abnormality of the hand	9200	HACD1	ORPHA:2020
HP:0001155	Abnormality of the hand	7170	TPM3	ORPHA:2020
HP:0001155	Abnormality of the hand	203859	ANO5	ORPHA:206549
HP:0001155	Abnormality of the hand	6399	TRAPPC2	ORPHA:93284
HP:0001155	Abnormality of the hand	5696	PSMB8	OMIM:256040
HP:0001155	Abnormality of the hand	5692	PSMB4	OMIM:617591
HP:0001155	Abnormality of the hand	5698	PSMB9	OMIM:617591
HP:0001155	Abnormality of the hand	4952	OCRL	OMIM:309000
HP:0001155	Abnormality of the hand	4141	MARS1	OMIM:616280
HP:0001155	Abnormality of the hand	8988	HSPB3	OMIM:613376
HP:0001155	Abnormality of the hand	9782	MATR3	OMIM:606070
HP:0001155	Abnormality of the hand	57104	PNPLA2	ORPHA:98908
HP:0001155	Abnormality of the hand	859	CAV3	OMIM:614321
HP:0001155	Abnormality of the hand	1639	DCTN1	OMIM:607641
HP:0001155	Abnormality of the hand	7084	TK2	ORPHA:254886
HP:0001155	Abnormality of the hand	2705	GJB1	OMIM:302800
HP:0001155	Abnormality of the hand	2992	GYG1	OMIM:616199
HP:0001155	Abnormality of the hand	3035	HARS1	ORPHA:488333
HP:0001155	Abnormality of the hand	8292	COLQ	ORPHA:98915
HP:0001155	Abnormality of the hand	3913	LAMB2	ORPHA:98915
HP:0001155	Abnormality of the hand	8565	YARS1	OMIM:608323
HP:0001155	Abnormality of the hand	2318	FLNC	ORPHA:63273
HP:0001155	Abnormality of the hand	8291	DYSF	ORPHA:178400
HP:0001155	Abnormality of the hand	128	ADH5	OMIM:619151
HP:0001155	Abnormality of the hand	10625	IVNS1ABP	OMIM:618969
HP:0001155	Abnormality of the hand	920	CD4	OMIM:619238
HP:0001155	Abnormality of the hand	126695	KDF1	OMIM:617337
HP:0001155	Abnormality of the hand	2312	FLG	OMIM:146700
HP:0001155	Abnormality of the hand	64423	INF2	OMIM:614455
HP:0001155	Abnormality of the hand	8566	PDXK	OMIM:618511
HP:0001155	Abnormality of the hand	10466	COG5	ORPHA:263487
HP:0001155	Abnormality of the hand	8092	ALX1	ORPHA:306542
HP:0001155	Abnormality of the hand	84342	COG8	OMIM:611182
HP:0001155	Abnormality of the hand	1747	DLX3	ORPHA:3352
HP:0001155	Abnormality of the hand	3767	KCNJ11	ORPHA:79134
HP:0001155	Abnormality of the hand	79731	NARS2	ORPHA:79134
HP:0001155	Abnormality of the hand	6833	ABCC8	ORPHA:79134
HP:0001155	Abnormality of the hand	2218	FKTN	ORPHA:272
HP:0001155	Abnormality of the hand	8294	H4C9	OMIM:619951
HP:0001155	Abnormality of the hand	54968	TMEM70	ORPHA:1194
HP:0001155	Abnormality of the hand	84466	MEGF10	OMIM:614399
HP:0001155	Abnormality of the hand	3508	IGHMBP2	OMIM:604320
HP:0001155	Abnormality of the hand	64127	NOD2	OMIM:186580
HP:0001155	Abnormality of the hand	64127	NOD2	ORPHA:90340
HP:0001155	Abnormality of the hand	9508	ADAMTS3	ORPHA:2136
HP:0001155	Abnormality of the hand	1723	DHODH	ORPHA:246
HP:0001155	Abnormality of the hand	55315	SLC29A3	OMIM:602782
HP:0001155	Abnormality of the hand	23102	TBC1D2B	OMIM:619323
HP:0001155	Abnormality of the hand	2068	ERCC2	OMIM:610756
HP:0001155	Abnormality of the hand	2068	ERCC2	ORPHA:1466
HP:0001155	Abnormality of the hand	2073	ERCC5	ORPHA:1466
HP:0001155	Abnormality of the hand	134701	RIPPLY2	ORPHA:2311
HP:0001155	Abnormality of the hand	10683	DLL3	ORPHA:2311
HP:0001155	Abnormality of the hand	84667	HES7	ORPHA:2311
HP:0001155	Abnormality of the hand	145873	MESP2	ORPHA:2311
HP:0001155	Abnormality of the hand	23443	SLC35A3	OMIM:615553
HP:0001155	Abnormality of the hand	25914	RTTN	ORPHA:468631
HP:0001155	Abnormality of the hand	23529	CLCF1	ORPHA:1545
HP:0001155	Abnormality of the hand	2212	FCGR2A	OMIM:219700
HP:0001155	Abnormality of the hand	7040	TGFB1	OMIM:219700
HP:0001155	Abnormality of the hand	1080	CFTR	OMIM:219700
HP:0001155	Abnormality of the hand	3071	NCKAP1L	OMIM:618982
HP:0001155	Abnormality of the hand	114548	NLRP3	OMIM:191900
HP:0001155	Abnormality of the hand	7015	TERT	OMIM:614742
HP:0001155	Abnormality of the hand	7015	TERT	ORPHA:2032
HP:0001155	Abnormality of the hand	7015	TERT	OMIM:178500
HP:0001155	Abnormality of the hand	6794	STK11	OMIM:175200
HP:0001155	Abnormality of the hand	987	LRBA	OMIM:614700
HP:0001155	Abnormality of the hand	6578	SLCO2A1	OMIM:167100
HP:0001155	Abnormality of the hand	6440	SFTPC	ORPHA:2032
HP:0001155	Abnormality of the hand	6440	SFTPC	OMIM:178500
HP:0001155	Abnormality of the hand	729238	SFTPA2	ORPHA:2032
HP:0001155	Abnormality of the hand	729238	SFTPA2	OMIM:178500
HP:0001155	Abnormality of the hand	79991	STN1	ORPHA:2032
HP:0001155	Abnormality of the hand	653509	SFTPA1	ORPHA:2032
HP:0001155	Abnormality of the hand	21	ABCA3	ORPHA:2032
HP:0001155	Abnormality of the hand	727897	MUC5B	ORPHA:2032
HP:0001155	Abnormality of the hand	727897	MUC5B	OMIM:178500
HP:0001155	Abnormality of the hand	10144	FAM13A	ORPHA:2032
HP:0001155	Abnormality of the hand	23250	ATP11A	ORPHA:2032
HP:0001155	Abnormality of the hand	91039	DPP9	ORPHA:2032
HP:0001155	Abnormality of the hand	51750	RTEL1	ORPHA:2032
HP:0001155	Abnormality of the hand	7012	TERC	ORPHA:2032
HP:0001155	Abnormality of the hand	5073	PARN	ORPHA:2032
HP:0001155	Abnormality of the hand	440275	EIF2AK4	ORPHA:199241
HP:0001155	Abnormality of the hand	1604	CD55	OMIM:226300
HP:0001155	Abnormality of the hand	10125	RASGRP1	OMIM:618534
HP:0001155	Abnormality of the hand	3248	HPGD	ORPHA:217059
HP:0001155	Abnormality of the hand	59067	IL21	OMIM:615767
HP:0001155	Abnormality of the hand	657	BMPR1A	ORPHA:79076
HP:0001155	Abnormality of the hand	7092	TLL1	ORPHA:99106
HP:0001155	Abnormality of the hand	274	BIN1	ORPHA:169186
HP:0001155	Abnormality of the hand	10290	SPEG	ORPHA:169186
HP:0001155	Abnormality of the hand	6261	RYR1	ORPHA:169186
HP:0001155	Abnormality of the hand	57459	GATAD2B	OMIM:615074
HP:0001155	Abnormality of the hand	57459	GATAD2B	ORPHA:363686
HP:0001155	Abnormality of the hand	1281	COL3A1	OMIM:618343
HP:0001155	Abnormality of the hand	6660	SOX5	OMIM:616803
HP:0001155	Abnormality of the hand	51520	LARS1	OMIM:615438
HP:0001155	Abnormality of the hand	116931	MED12L	OMIM:618872
HP:0001155	Abnormality of the hand	203068	TUBB	OMIM:156610
HP:0001155	Abnormality of the hand	9772	TMEM94	OMIM:618316
HP:0001155	Abnormality of the hand	79971	WLS	OMIM:619648
HP:0001155	Abnormality of the hand	2556	GABRA3	OMIM:301091
HP:0001155	Abnormality of the hand	5373	PMM2	ORPHA:79318
HP:0001155	Abnormality of the hand	94	ACVRL1	OMIM:600376
HP:0001155	Abnormality of the hand	54345	SOX18	ORPHA:69735
HP:0001155	Abnormality of the hand	54345	SOX18	OMIM:607823
HP:0001155	Abnormality of the hand	2859	GPR35	ORPHA:171
HP:0001155	Abnormality of the hand	10507	SEMA4D	ORPHA:171
HP:0001155	Abnormality of the hand	4485	MST1	ORPHA:171
HP:0001155	Abnormality of the hand	55768	NGLY1	ORPHA:404454
HP:0001155	Abnormality of the hand	781	CACNA2D1	OMIM:620149
HP:0001155	Abnormality of the hand	123263	MTFMT	OMIM:614947
HP:0001155	Abnormality of the hand	27125	AFF4	ORPHA:444077
HP:0001155	Abnormality of the hand	22854	NTNG1	ORPHA:3095
HP:0001155	Abnormality of the hand	9568	GABBR2	ORPHA:3095
HP:0001155	Abnormality of the hand	9568	GABBR2	OMIM:617903
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:177904
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:177901
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:98754
HP:0001155	Abnormality of the hand	2590	GALNT2	OMIM:618885
HP:0001155	Abnormality of the hand	3064	HTT	OMIM:617435
HP:0001155	Abnormality of the hand	1147	CHUK	OMIM:619339
HP:0001155	Abnormality of the hand	6045	RNF2	OMIM:619460
HP:0001155	Abnormality of the hand	1501	CTNND2	ORPHA:281
HP:0001155	Abnormality of the hand	9037	SEMA5A	ORPHA:281
HP:0001155	Abnormality of the hand	6304	SATB1	OMIM:619229
HP:0001155	Abnormality of the hand	8493	PPM1D	OMIM:617450
HP:0001155	Abnormality of the hand	7486	WRN	ORPHA:902
HP:0001155	Abnormality of the hand	3800	KIF5C	OMIM:615282
HP:0001155	Abnormality of the hand	2332	FMR1	ORPHA:261483
HP:0001155	Abnormality of the hand	388662	SLC6A17	OMIM:616269
HP:0001155	Abnormality of the hand	406932	MIR140	OMIM:618618
HP:0001155	Abnormality of the hand	1801	DPH1	ORPHA:459061
HP:0001155	Abnormality of the hand	3762	KCNJ5	ORPHA:37553
HP:0005857	Cervical spina bifida	51339	DACT1	ORPHA:63260
HP:0005856	Ulnar radial head dislocation	6473	SHOX	ORPHA:314795
HP:4000105	Abnormal four chamber view of the fetal heart	3190	HNRNPK	OMIM:616580
HP:0005864	Pseudoarthrosis	2260	FGFR1	OMIM:166250
HP:0005864	Pseudoarthrosis	4233	MET	OMIM:607278
HP:0005864	Pseudoarthrosis	79879	CCDC134	OMIM:619795
HP:0005864	Pseudoarthrosis	4617	MYF5	OMIM:618155
HP:0005864	Pseudoarthrosis	1947	EFNB1	ORPHA:1520
HP:0005864	Pseudoarthrosis	1947	EFNB1	OMIM:304110
HP:0005864	Pseudoarthrosis	7476	WNT7A	OMIM:276820
HP:0005864	Pseudoarthrosis	10269	ZMPSTE24	OMIM:275210
HP:0005864	Pseudoarthrosis	865	CBFB	OMIM:620099
HP:0005864	Pseudoarthrosis	4763	NF1	OMIM:162200
HP:0100811	Aplasia/Hypoplasia of the colon	2627	GATA6	OMIM:600001
HP:0100811	Aplasia/Hypoplasia of the colon	2984	GUCY2C	OMIM:614665
HP:0100811	Aplasia/Hypoplasia of the colon	4000	LMNA	ORPHA:1662
HP:0100811	Aplasia/Hypoplasia of the colon	10269	ZMPSTE24	ORPHA:1662
HP:0100811	Aplasia/Hypoplasia of the colon	6663	SOX10	ORPHA:163746
HP:0100811	Aplasia/Hypoplasia of the colon	25802	LMOD1	ORPHA:2241
HP:0100811	Aplasia/Hypoplasia of the colon	25802	LMOD1	OMIM:619362
HP:0100811	Aplasia/Hypoplasia of the colon	4629	MYH11	ORPHA:2241
HP:0100811	Aplasia/Hypoplasia of the colon	4629	MYH11	OMIM:619351
HP:0100811	Aplasia/Hypoplasia of the colon	72	ACTG2	ORPHA:2241
HP:0100811	Aplasia/Hypoplasia of the colon	72	ACTG2	OMIM:155310
HP:0100811	Aplasia/Hypoplasia of the colon	72	ACTG2	OMIM:619431
HP:0100811	Aplasia/Hypoplasia of the colon	4638	MYLK	ORPHA:2241
HP:0100811	Aplasia/Hypoplasia of the colon	1174	AP1S1	OMIM:609313
HP:0100812	Halitosis	4143	MAT1A	OMIM:250850
HP:0100812	Halitosis	8991	SELENBP1	OMIM:618148
HP:0100812	Halitosis	6340	SCNN1G	ORPHA:60033
HP:0100812	Halitosis	1080	CFTR	ORPHA:60033
HP:0100812	Halitosis	6337	SCNN1A	ORPHA:60033
HP:0100812	Halitosis	6338	SCNN1B	ORPHA:60033
HP:0100813	Testicular torsion	11285	B4GALT7	ORPHA:75496
HP:0100813	Testicular torsion	3339	HSPG2	ORPHA:800
HP:0100814	Blue nevus	815	CAMK2A	OMIM:617798
HP:0100814	Blue nevus	3074	HEXB	ORPHA:309155
HP:0100814	Blue nevus	55617	TASP1	OMIM:618950
HP:0100814	Blue nevus	7306	TYRP1	ORPHA:79433
HP:0100814	Blue nevus	83480	PUS3	ORPHA:488627
HP:0100814	Blue nevus	3265	HRAS	ORPHA:2874
HP:0100814	Blue nevus	5573	PRKAR1A	ORPHA:1359
HP:0100814	Blue nevus	50940	PDE11A	ORPHA:1359
HP:0100814	Blue nevus	54914	FOCAD	OMIM:619991
HP:0100814	Blue nevus	2767	GNA11	ORPHA:1556
HP:0100814	Blue nevus	151188	ARL6IP6	ORPHA:1556
HP:0100816	Lip hyperpigmentation	215	ABCD1	ORPHA:139399
HP:0100817	Renovascular hypertension	55249	YY1AP1	OMIM:602531
HP:0100817	Renovascular hypertension	6804	STX1A	ORPHA:904
HP:0100817	Renovascular hypertension	7461	CLIP2	ORPHA:904
HP:0100817	Renovascular hypertension	84277	DNAJC30	ORPHA:904
HP:0100817	Renovascular hypertension	8468	FKBP6	ORPHA:904
HP:0100817	Renovascular hypertension	5982	RFC2	ORPHA:904
HP:0100817	Renovascular hypertension	2969	GTF2I	ORPHA:904
HP:0100817	Renovascular hypertension	3984	LIMK1	ORPHA:904
HP:0100817	Renovascular hypertension	9569	GTF2IRD1	ORPHA:904
HP:0100817	Renovascular hypertension	155382	VPS37D	ORPHA:904
HP:0100817	Renovascular hypertension	155368	METTL27	ORPHA:904
HP:0100817	Renovascular hypertension	114049	BUD23	ORPHA:904
HP:0100817	Renovascular hypertension	7458	EIF4H	ORPHA:904
HP:0100817	Renovascular hypertension	84163	GTF2IRD2	ORPHA:904
HP:0100817	Renovascular hypertension	9275	BCL7B	ORPHA:904
HP:0100817	Renovascular hypertension	26608	TBL2	ORPHA:904
HP:0100817	Renovascular hypertension	653361	NCF1	ORPHA:904
HP:0100817	Renovascular hypertension	135886	TMEM270	ORPHA:904
HP:0100817	Renovascular hypertension	51085	MLXIPL	ORPHA:904
HP:0100817	Renovascular hypertension	9031	BAZ1B	ORPHA:904
HP:0100817	Renovascular hypertension	2006	ELN	ORPHA:904
HP:0100817	Renovascular hypertension	1281	COL3A1	ORPHA:286
HP:0100817	Renovascular hypertension	6772	STAT1	ORPHA:391487
HP:0100817	Renovascular hypertension	10043	TOM1	ORPHA:391487
HP:0100817	Renovascular hypertension	9896	FIG4	ORPHA:3472
HP:0100817	Renovascular hypertension	55697	VAC14	ORPHA:3472
HP:0100817	Renovascular hypertension	64131	XYLT1	OMIM:264800
HP:0100817	Renovascular hypertension	64132	XYLT2	OMIM:264800
HP:0100817	Renovascular hypertension	368	ABCC6	OMIM:264800
HP:0100817	Renovascular hypertension	4763	NF1	ORPHA:97685
HP:0100818	Long thorax	59341	TRPV4	ORPHA:2635
HP:0100818	Long thorax	7994	KAT6A	OMIM:616268
HP:0100818	Long thorax	7703	PCGF2	OMIM:618371
HP:0100818	Long thorax	27152	INTU	OMIM:617925
HP:0100818	Long thorax	5566	PRKACA	OMIM:619142
HP:0100818	Long thorax	5567	PRKACB	OMIM:619143
HP:0100818	Long thorax	8260	NAA10	ORPHA:568
HP:0100818	Long thorax	54880	BCOR	ORPHA:568
HP:0100819	Intestinal fistula	9361	LONP1	OMIM:600373
HP:0100819	Intestinal fistula	57167	SALL4	OMIM:147750
HP:0100819	Intestinal fistula	57167	SALL4	ORPHA:2307
HP:0100819	Intestinal fistula	92002	CCNQ	OMIM:300707
HP:0100819	Intestinal fistula	8195	MKKS	OMIM:236700
HP:0100819	Intestinal fistula	3588	IL10RB	OMIM:612567
HP:0100819	Intestinal fistula	3110	MNX1	OMIM:176450
HP:0100819	Intestinal fistula	26123	TCTN3	ORPHA:2753
HP:0100819	Intestinal fistula	10653	SPINT2	OMIM:270420
HP:0100819	Intestinal fistula	84172	POLR1B	ORPHA:861
HP:0100819	Intestinal fistula	9533	POLR1C	ORPHA:861
HP:0100819	Intestinal fistula	51082	POLR1D	ORPHA:861
HP:0100819	Intestinal fistula	6949	TCOF1	ORPHA:861
HP:0100819	Intestinal fistula	9401	RECQL4	OMIM:218600
HP:0100819	Intestinal fistula	197131	UBR1	OMIM:243800
HP:0100819	Intestinal fistula	6299	SALL1	OMIM:107480
HP:0100819	Intestinal fistula	6299	SALL1	ORPHA:857
HP:0100819	Intestinal fistula	267010	RNU12	OMIM:603116
HP:0100819	Intestinal fistula	374654	KIF7	OMIM:200990
HP:0100819	Intestinal fistula	51339	DACT1	OMIM:617466
HP:0100819	Intestinal fistula	51339	DACT1	ORPHA:857
HP:0100819	Intestinal fistula	1642	DDB1	OMIM:619426
HP:0100819	Intestinal fistula	3718	JAK3	ORPHA:35078
HP:0100819	Intestinal fistula	158326	FREM1	OMIM:608980
HP:0100819	Intestinal fistula	5297	PI4KA	OMIM:619708
HP:0100819	Intestinal fistula	1024	CDK8	OMIM:618748
HP:0100819	Intestinal fistula	6850	SYK	OMIM:619381
HP:0100819	Intestinal fistula	4689	NCF4	OMIM:613960
HP:0100819	Intestinal fistula	2000	ELF4	OMIM:301074
HP:0100819	Intestinal fistula	917	CD3G	OMIM:615607
HP:0100819	Intestinal fistula	5317	PKP1	ORPHA:158668
HP:0100819	Intestinal fistula	7040	TGFB1	OMIM:618213
HP:0100819	Intestinal fistula	8085	KMT2D	OMIM:147920
HP:0100819	Intestinal fistula	7403	KDM6A	OMIM:147920
HP:0100819	Intestinal fistula	23556	PIGN	ORPHA:280633
HP:0100819	Intestinal fistula	4281	MID1	OMIM:300000
HP:0100819	Intestinal fistula	1794	DOCK2	OMIM:616433
HP:0100819	Intestinal fistula	145173	B3GLCT	ORPHA:709
HP:0500070	Conjunctival dermolipoma	5308	PITX2	OMIM:180550
HP:0007626	Mandibular osteomyelitis	203859	ANO5	ORPHA:53697
HP:0007626	Mandibular osteomyelitis	1186	CLCN7	ORPHA:53
HP:0007626	Mandibular osteomyelitis	1186	CLCN7	OMIM:166600
HP:0007626	Mandibular osteomyelitis	8600	TNFSF11	OMIM:259710
HP:0005868	Metaphyseal enchondromatosis	1280	COL2A1	ORPHA:85198
HP:0005868	Metaphyseal enchondromatosis	3417	IDH1	ORPHA:99646
HP:0005867	4-5 metacarpal synostosis	8823	FGF16	OMIM:309630
HP:0005867	4-5 metacarpal synostosis	3239	HOXD13	OMIM:186300
HP:0005867	4-5 metacarpal synostosis	64093	SMOC1	OMIM:206920
HP:0005867	4-5 metacarpal synostosis	9775	EIF4A3	OMIM:268305
HP:0005866	Opposable triphalangeal thumb	64327	LMBR1	OMIM:174500
HP:0004977	Bilateral radial aplasia	9939	RBM8A	OMIM:274000
HP:0004977	Bilateral radial aplasia	2187	FANCB	OMIM:300514
HP:0005873	Polysyndactyly of hallux	4750	NEK1	ORPHA:2751
HP:0005873	Polysyndactyly of hallux	4750	NEK1	OMIM:263520
HP:0001217	Clubbing	94	ACVRL1	OMIM:600376
HP:0001217	Clubbing	6340	SCNN1G	ORPHA:60033
HP:0001217	Clubbing	6337	SCNN1A	ORPHA:60033
HP:0001217	Clubbing	6338	SCNN1B	ORPHA:60033
HP:0001217	Clubbing	3123	HLA-DRB1	ORPHA:747
HP:0001217	Clubbing	3123	HLA-DRB1	OMIM:181000
HP:0001217	Clubbing	8318	CDC45	OMIM:617063
HP:0001217	Clubbing	4141	MARS1	OMIM:615486
HP:0001217	Clubbing	65082	VPS33A	OMIM:617303
HP:0001217	Clubbing	6925	TCF4	OMIM:610954
HP:0001217	Clubbing	6439	SFTPB	OMIM:265120
HP:0001217	Clubbing	2022	ENG	OMIM:187300
HP:0001217	Clubbing	5422	POLA1	OMIM:301220
HP:0001217	Clubbing	4089	SMAD4	OMIM:174900
HP:0001217	Clubbing	4089	SMAD4	OMIM:175050
HP:0001217	Clubbing	738	VPS51	OMIM:618606
HP:0001217	Clubbing	56244	BTNL2	OMIM:612387
HP:0001217	Clubbing	3572	IL6ST	OMIM:618523
HP:0001217	Clubbing	3868	KRT16	ORPHA:2199
HP:0001217	Clubbing	3857	KRT9	ORPHA:2199
HP:0001217	Clubbing	3848	KRT1	ORPHA:2199
HP:0001217	Clubbing	404672	GTF2H5	ORPHA:33364
HP:0001217	Clubbing	833	CARS1	ORPHA:33364
HP:0001217	Clubbing	2068	ERCC2	ORPHA:33364
HP:0001217	Clubbing	7737	RNF113A	ORPHA:33364
HP:0001217	Clubbing	136647	MPLKIP	ORPHA:33364
HP:0001217	Clubbing	6897	TARS1	ORPHA:33364
HP:0001217	Clubbing	2071	ERCC3	ORPHA:33364
HP:0001217	Clubbing	2961	GTF2E2	ORPHA:33364
HP:0001217	Clubbing	2317	FLNB	OMIM:108720
HP:0001217	Clubbing	3858	KRT10	OMIM:609165
HP:0001217	Clubbing	25981	DNAH1	ORPHA:244
HP:0001217	Clubbing	115948	ODAD3	ORPHA:244
HP:0001217	Clubbing	54768	HYDIN	ORPHA:244
HP:0001217	Clubbing	352909	DNAAF3	ORPHA:244
HP:0001217	Clubbing	27148	STK36	ORPHA:244
HP:0001217	Clubbing	51314	NME8	ORPHA:244
HP:0001217	Clubbing	92749	DRC1	ORPHA:244
HP:0001217	Clubbing	54970	TTC12	ORPHA:244
HP:0001217	Clubbing	152110	NEK10	ORPHA:244
HP:0001217	Clubbing	8481	OFD1	ORPHA:244
HP:0001217	Clubbing	2302	FOXJ1	ORPHA:244
HP:0001217	Clubbing	221421	RSPH9	ORPHA:244
HP:0001217	Clubbing	85478	CCDC65	ORPHA:244
HP:0001217	Clubbing	55036	CCDC40	ORPHA:244
HP:0001217	Clubbing	51364	ZMYND10	ORPHA:244
HP:0001217	Clubbing	64446	DNAI2	ORPHA:244
HP:0001217	Clubbing	6674	SPAG1	ORPHA:244
HP:0001217	Clubbing	83544	DNAL1	ORPHA:244
HP:0001217	Clubbing	89765	RSPH1	ORPHA:244
HP:0001217	Clubbing	83538	ODAD4	ORPHA:244
HP:0001217	Clubbing	200373	CFAP221	ORPHA:244
HP:0001217	Clubbing	374407	DNAJB13	ORPHA:244
HP:0001217	Clubbing	55172	DNAAF2	ORPHA:244
HP:0001217	Clubbing	161582	DNAAF4	ORPHA:244
HP:0001217	Clubbing	2622	GAS8	ORPHA:244
HP:0001217	Clubbing	23639	DNAAF11	ORPHA:244
HP:0001217	Clubbing	27019	DNAI1	ORPHA:244
HP:0001217	Clubbing	345895	RSPH4A	ORPHA:244
HP:0001217	Clubbing	54919	DNAAF5	ORPHA:244
HP:0001217	Clubbing	6103	RPGR	ORPHA:244
HP:0001217	Clubbing	388389	CCDC103	ORPHA:244
HP:0001217	Clubbing	93233	ODAD1	ORPHA:244
HP:0001217	Clubbing	55130	ODAD2	ORPHA:244
HP:0001217	Clubbing	1767	DNAH5	ORPHA:244
HP:0001217	Clubbing	83861	RSPH3	ORPHA:244
HP:0001217	Clubbing	345643	MCIDAS	ORPHA:244
HP:0001217	Clubbing	56683	CFAP298	ORPHA:244
HP:0001217	Clubbing	79925	SPEF2	ORPHA:244
HP:0001217	Clubbing	10309	CCNO	ORPHA:244
HP:0001217	Clubbing	115399	LRRC56	ORPHA:244
HP:0001217	Clubbing	139212	DNAAF6	ORPHA:244
HP:0001217	Clubbing	123872	DNAAF1	ORPHA:244
HP:0001217	Clubbing	85016	CFAP300	ORPHA:244
HP:0001217	Clubbing	339829	CCDC39	ORPHA:244
HP:0001217	Clubbing	8701	DNAH11	ORPHA:244
HP:0001217	Clubbing	1770	DNAH9	ORPHA:244
HP:0001217	Clubbing	246176	GAS2L2	ORPHA:244
HP:0001217	Clubbing	26154	ABCA12	OMIM:601277
HP:0001217	Clubbing	56916	SMARCAD1	OMIM:136000
HP:0001217	Clubbing	3977	LIFR	OMIM:601559
HP:0001217	Clubbing	5567	PRKACB	OMIM:619143
HP:0001217	Clubbing	10892	MALT1	OMIM:615468
HP:0001217	Clubbing	3187	HNRNPH1	OMIM:620083
HP:0001217	Clubbing	2212	FCGR2A	OMIM:219700
HP:0001217	Clubbing	7040	TGFB1	OMIM:219700
HP:0001217	Clubbing	1080	CFTR	OMIM:219700
HP:0001217	Clubbing	3071	NCKAP1L	OMIM:618982
HP:0001217	Clubbing	5745	PTH1R	OMIM:156400
HP:0001217	Clubbing	114548	NLRP3	OMIM:191900
HP:0001217	Clubbing	182	JAG1	OMIM:619574
HP:0001217	Clubbing	7015	TERT	OMIM:614742
HP:0001217	Clubbing	7015	TERT	ORPHA:2032
HP:0001217	Clubbing	7015	TERT	OMIM:178500
HP:0001217	Clubbing	6794	STK11	OMIM:175200
HP:0001217	Clubbing	987	LRBA	OMIM:614700
HP:0001217	Clubbing	6578	SLCO2A1	OMIM:167100
HP:0001217	Clubbing	6440	SFTPC	ORPHA:2032
HP:0001217	Clubbing	6440	SFTPC	OMIM:178500
HP:0001217	Clubbing	729238	SFTPA2	ORPHA:2032
HP:0001217	Clubbing	729238	SFTPA2	OMIM:178500
HP:0001217	Clubbing	79991	STN1	ORPHA:2032
HP:0001217	Clubbing	653509	SFTPA1	ORPHA:2032
HP:0001217	Clubbing	21	ABCA3	ORPHA:2032
HP:0001217	Clubbing	1832	DSP	ORPHA:2032
HP:0001217	Clubbing	1832	DSP	OMIM:605676
HP:0001217	Clubbing	727897	MUC5B	ORPHA:2032
HP:0001217	Clubbing	727897	MUC5B	OMIM:178500
HP:0001217	Clubbing	10144	FAM13A	ORPHA:2032
HP:0001217	Clubbing	23250	ATP11A	ORPHA:2032
HP:0001217	Clubbing	91039	DPP9	ORPHA:2032
HP:0001217	Clubbing	51750	RTEL1	ORPHA:2032
HP:0001217	Clubbing	7012	TERC	ORPHA:2032
HP:0001217	Clubbing	5073	PARN	ORPHA:2032
HP:0001217	Clubbing	3339	HSPG2	ORPHA:1865
HP:0001217	Clubbing	10804	GJB6	ORPHA:189
HP:0001217	Clubbing	440275	EIF2AK4	ORPHA:199241
HP:0001217	Clubbing	1604	CD55	OMIM:226300
HP:0001217	Clubbing	10568	SLC34A2	ORPHA:60025
HP:0001217	Clubbing	8884	SLC5A6	OMIM:618973
HP:0001217	Clubbing	10125	RASGRP1	OMIM:618534
HP:0001217	Clubbing	3248	HPGD	ORPHA:217059
HP:0001217	Clubbing	59067	IL21	OMIM:615767
HP:0001217	Clubbing	5728	PTEN	ORPHA:79076
HP:0001217	Clubbing	657	BMPR1A	ORPHA:79076
HP:0001217	Clubbing	5696	PSMB8	OMIM:256040
HP:0001217	Clubbing	27152	INTU	OMIM:617926
HP:0001217	Clubbing	7092	TLL1	ORPHA:99106
HP:0001217	Clubbing	6595	SMARCA2	ORPHA:3051
HP:0001217	Clubbing	7319	UBE2A	ORPHA:163956
HP:0001217	Clubbing	79651	RHBDF2	ORPHA:2198
HP:0001217	Clubbing	9487	PIGL	ORPHA:3474
HP:0001217	Clubbing	672	BRCA1	ORPHA:84
HP:0001217	Clubbing	10459	MAD2L2	ORPHA:84
HP:0001217	Clubbing	7516	XRCC2	ORPHA:84
HP:0001217	Clubbing	29089	UBE2T	ORPHA:84
HP:0001217	Clubbing	675	BRCA2	ORPHA:84
HP:0001217	Clubbing	55120	FANCL	ORPHA:84
HP:0001217	Clubbing	2177	FANCD2	ORPHA:84
HP:0001217	Clubbing	2175	FANCA	ORPHA:84
HP:0001217	Clubbing	2187	FANCB	ORPHA:84
HP:0001217	Clubbing	2176	FANCC	ORPHA:84
HP:0001217	Clubbing	2178	FANCE	ORPHA:84
HP:0001217	Clubbing	2188	FANCF	ORPHA:84
HP:0001217	Clubbing	2189	FANCG	ORPHA:84
HP:0001217	Clubbing	5888	RAD51	ORPHA:84
HP:0001217	Clubbing	5889	RAD51C	ORPHA:84
HP:0001217	Clubbing	55159	RFWD3	ORPHA:84
HP:0001217	Clubbing	83990	BRIP1	ORPHA:84
HP:0001217	Clubbing	57697	FANCM	ORPHA:84
HP:0001217	Clubbing	79728	PALB2	ORPHA:84
HP:0001217	Clubbing	84464	SLX4	ORPHA:84
HP:0001217	Clubbing	2072	ERCC4	ORPHA:84
HP:0001217	Clubbing	55215	FANCI	ORPHA:84
HP:0100820	Glomerulopathy	9663	LPIN2	ORPHA:77297
HP:0100820	Glomerulopathy	8518	ELP1	ORPHA:1764
HP:0100820	Glomerulopathy	4010	LMX1B	ORPHA:2613
HP:0100820	Glomerulopathy	348	APOE	OMIM:611771
HP:0100820	Glomerulopathy	25974	MMACHC	ORPHA:79282
HP:0100820	Glomerulopathy	7454	WAS	ORPHA:906
HP:0100820	Glomerulopathy	7456	WIPF1	ORPHA:906
HP:0100820	Glomerulopathy	84823	LMNB2	ORPHA:79087
HP:0100820	Glomerulopathy	1493	CTLA4	ORPHA:900
HP:0100820	Glomerulopathy	26191	PTPN22	ORPHA:900
HP:0100820	Glomerulopathy	3115	HLA-DPB1	ORPHA:900
HP:0100820	Glomerulopathy	5657	PRTN3	ORPHA:900
HP:0100820	Glomerulopathy	3113	HLA-DPA1	ORPHA:900
HP:0100820	Glomerulopathy	2303	FOXC2	ORPHA:33001
HP:0100820	Glomerulopathy	2335	FN1	ORPHA:84090
HP:0100820	Glomerulopathy	1776	DNASE1L3	ORPHA:36412
HP:0100820	Glomerulopathy	6928	HNF1B	ORPHA:93111
HP:0100820	Glomerulopathy	7490	WT1	ORPHA:347
HP:0100820	Glomerulopathy	2717	GLA	ORPHA:324
HP:0100820	Glomerulopathy	4567	MT-TL1	ORPHA:225
HP:0100820	Glomerulopathy	4556	MT-TE	ORPHA:225
HP:0100820	Glomerulopathy	4566	MT-TK	ORPHA:225
HP:0100820	Glomerulopathy	23630	KCNE5	ORPHA:86818
HP:0100820	Glomerulopathy	2182	ACSL4	ORPHA:86818
HP:0100820	Glomerulopathy	9949	AMMECR1	ORPHA:86818
HP:0100820	Glomerulopathy	4552	MTRR	ORPHA:2169
HP:0100820	Glomerulopathy	950	SCARB2	OMIM:254900
HP:0100820	Glomerulopathy	4952	OCRL	ORPHA:534
HP:0100820	Glomerulopathy	149233	IL23R	ORPHA:117
HP:0100820	Glomerulopathy	6775	STAT4	ORPHA:117
HP:0100820	Glomerulopathy	3586	IL10	ORPHA:117
HP:0100820	Glomerulopathy	4210	MEFV	ORPHA:117
HP:0100820	Glomerulopathy	1230	CCR1	ORPHA:117
HP:0100820	Glomerulopathy	355	FAS	ORPHA:117
HP:0100820	Glomerulopathy	3592	IL12A	ORPHA:117
HP:0100820	Glomerulopathy	101928376	IL12A-AS1	ORPHA:117
HP:0100820	Glomerulopathy	3106	HLA-B	ORPHA:117
HP:0100820	Glomerulopathy	7099	TLR4	ORPHA:117
HP:0100820	Glomerulopathy	3459	IFNGR1	ORPHA:117
HP:0100820	Glomerulopathy	720	C4A	ORPHA:117
HP:0100820	Glomerulopathy	337867	UBAC2	ORPHA:117
HP:0100820	Glomerulopathy	51752	ERAP1	ORPHA:117
HP:0100820	Glomerulopathy	8302	KLRC4	ORPHA:117
HP:0100820	Glomerulopathy	4000	LMNA	ORPHA:2348
HP:0100823	Genital hernia	1277	COL1A1	ORPHA:287
HP:0100823	Genital hernia	1289	COL5A1	ORPHA:287
HP:0100823	Genital hernia	1290	COL5A2	ORPHA:287
HP:0100823	Genital hernia	6197	RPS6KA3	OMIM:303600
HP:0100823	Genital hernia	2006	ELN	OMIM:123700
HP:0100823	Genital hernia	1281	COL3A1	OMIM:130050
HP:0100823	Genital hernia	1281	COL3A1	ORPHA:286
HP:0100823	Genital hernia	4088	SMAD3	OMIM:613795
HP:0000139	Uterine prolapse	1281	COL3A1	OMIM:130050
HP:0000139	Uterine prolapse	1281	COL3A1	ORPHA:286
HP:0000139	Uterine prolapse	1277	COL1A1	ORPHA:287
HP:0000139	Uterine prolapse	1289	COL5A1	ORPHA:287
HP:0000139	Uterine prolapse	1290	COL5A2	ORPHA:287
HP:0000139	Uterine prolapse	4088	SMAD3	ORPHA:284984
HP:0000139	Uterine prolapse	4088	SMAD3	OMIM:613795
HP:0000139	Uterine prolapse	6197	RPS6KA3	OMIM:303600
HP:0000139	Uterine prolapse	2006	ELN	OMIM:123700
HP:0100825	Cheilitis	10804	GJB6	ORPHA:477
HP:0100825	Cheilitis	2706	GJB2	ORPHA:477
HP:0100825	Cheilitis	8029	CUBN	ORPHA:35858
HP:0100825	Cheilitis	81693	AMN	ORPHA:35858
HP:0100825	Cheilitis	1825	DSC3	OMIM:613102
HP:0100825	Cheilitis	3872	KRT17	OMIM:167210
HP:0100825	Cheilitis	3872	KRT17	ORPHA:2309
HP:0100825	Cheilitis	3868	KRT16	ORPHA:2309
HP:0100825	Cheilitis	3853	KRT6A	ORPHA:2309
HP:0100825	Cheilitis	3854	KRT6B	ORPHA:2309
HP:0100825	Cheilitis	6720	SREBF1	OMIM:619016
HP:0100825	Cheilitis	641	BLM	ORPHA:125
HP:0100825	Cheilitis	55630	SLC39A4	ORPHA:37
HP:0100825	Cheilitis	51360	MBTPS2	ORPHA:2273
HP:0100825	Cheilitis	5317	PKP1	ORPHA:158668
HP:0100825	Cheilitis	831	CAST	OMIM:616295
HP:0100825	Cheilitis	55612	FERMT1	ORPHA:2908
HP:0100825	Cheilitis	10892	MALT1	OMIM:615468
HP:0100825	Cheilitis	84818	IL17RC	ORPHA:1334
HP:0100825	Cheilitis	64581	CLEC7A	ORPHA:1334
HP:0100825	Cheilitis	23765	IL17RA	ORPHA:1334
HP:0100825	Cheilitis	10758	TRAF3IP2	ORPHA:1334
HP:0100825	Cheilitis	10758	TRAF3IP2	OMIM:615527
HP:0100825	Cheilitis	112744	IL17F	ORPHA:1334
HP:0100825	Cheilitis	64065	PERP	OMIM:619208
HP:0100825	Cheilitis	4952	OCRL	ORPHA:534
HP:0100825	Cheilitis	113235	SLC46A1	ORPHA:90045
HP:0100826	Neoplasm of the nail	3458	IFNG	ORPHA:805
HP:0100826	Neoplasm of the nail	7248	TSC1	ORPHA:805
HP:0100826	Neoplasm of the nail	7248	TSC1	ORPHA:538
HP:0100826	Neoplasm of the nail	7249	TSC2	ORPHA:805
HP:0100826	Neoplasm of the nail	7249	TSC2	ORPHA:538
HP:0100828	Increased T cell count	56244	BTNL2	ORPHA:797
HP:0100828	Increased T cell count	3123	HLA-DRB1	ORPHA:797
HP:0100829	Galactorrhea	4221	MEN1	ORPHA:652
HP:0100829	Galactorrhea	4221	MEN1	ORPHA:2965
HP:0100829	Galactorrhea	4221	MEN1	ORPHA:99725
HP:0100829	Galactorrhea	1027	CDKN1B	ORPHA:652
HP:0100829	Galactorrhea	1026	CDKN1A	ORPHA:652
HP:0100829	Galactorrhea	1030	CDKN2B	ORPHA:652
HP:0100829	Galactorrhea	1031	CDKN2C	ORPHA:652
HP:0100829	Galactorrhea	5618	PRLR	ORPHA:397685
HP:0100829	Galactorrhea	5618	PRLR	OMIM:615555
HP:0100829	Galactorrhea	64072	CDH23	ORPHA:2965
HP:0100829	Galactorrhea	9049	AIP	ORPHA:2965
HP:0100829	Galactorrhea	9049	AIP	ORPHA:99725
HP:0100829	Galactorrhea	9049	AIP	ORPHA:963
HP:0100829	Galactorrhea	9049	AIP	OMIM:102200
HP:0100829	Galactorrhea	3662	IRF4	ORPHA:3452
HP:0100829	Galactorrhea	83550	GPR101	ORPHA:963
HP:0005876	Progressive flexion contractures	118429	ANTXR2	ORPHA:2028
HP:0005876	Progressive flexion contractures	118429	ANTXR2	OMIM:228600
HP:0005876	Progressive flexion contractures	2643	GCH1	ORPHA:98808
HP:0005876	Progressive flexion contractures	4929	NR4A2	ORPHA:98808
HP:0005876	Progressive flexion contractures	3615	IMPDH2	ORPHA:98808
HP:0005876	Progressive flexion contractures	9968	MED12	ORPHA:93932
HP:0005876	Progressive flexion contractures	6857	SYT1	ORPHA:522077
HP:0005876	Progressive flexion contractures	157570	ESCO2	ORPHA:3103
HP:0500087	Peripapillary atrophy	80781	COL18A1	OMIM:267750
HP:0500087	Peripapillary atrophy	49855	SCAPER	OMIM:618195
HP:0500087	Peripapillary atrophy	126792	B3GALT6	ORPHA:536467
HP:0500087	Peripapillary atrophy	114902	C1QTNF5	ORPHA:67042
HP:0500087	Peripapillary atrophy	7275	TUB	OMIM:616188
HP:0500087	Peripapillary atrophy	55624	POMGNT1	OMIM:617123
HP:0500087	Peripapillary atrophy	79797	ZNF408	OMIM:616469
HP:0500087	Peripapillary atrophy	138050	HGSNAT	OMIM:616544
HP:0500087	Peripapillary atrophy	4327	MMP19	OMIM:611543
HP:0500087	Peripapillary atrophy	10383	TUBB4B	OMIM:617879
HP:0500087	Peripapillary atrophy	1261	CNGA3	OMIM:216900
HP:0500087	Peripapillary atrophy	7287	TULP1	OMIM:613843
HP:0500087	Peripapillary atrophy	1282	COL4A1	OMIM:175780
HP:0500087	Peripapillary atrophy	55975	KLHL7	OMIM:612943
HP:0500089	Optic nerve sheath meningioma	4771	NF2	OMIM:101000
HP:0005879	Congenital finger flexion contractures	51305	KCNK9	ORPHA:166108
HP:0005879	Congenital finger flexion contractures	1303	COL12A1	ORPHA:536516
HP:0005879	Congenital finger flexion contractures	22880	MORC2	ORPHA:466768
HP:0005879	Congenital finger flexion contractures	825	CAPN3	ORPHA:267
HP:0005879	Congenital finger flexion contractures	2201	FBN2	OMIM:121050
HP:0005879	Congenital finger flexion contractures	63895	PIEZO2	ORPHA:1154
HP:0005879	Congenital finger flexion contractures	63895	PIEZO2	OMIM:108145
HP:0005879	Congenital finger flexion contractures	10216	PRG4	OMIM:208250
HP:0005879	Congenital finger flexion contractures	113179	ADAT3	ORPHA:363528
HP:0005879	Congenital finger flexion contractures	7043	TGFB3	OMIM:615582
HP:0005877	Multiple small vertebral fractures	79879	CCDC134	OMIM:619795
HP:0005877	Multiple small vertebral fractures	860	RUNX2	OMIM:156510
HP:0005877	Multiple small vertebral fractures	4148	MATN3	ORPHA:93311
HP:0005881	Spinal instability	2137	EXTL3	ORPHA:508533
HP:0005881	Spinal instability	2137	EXTL3	OMIM:617425
HP:0005881	Spinal instability	4853	NOTCH2	OMIM:102500
HP:0005881	Spinal instability	1280	COL2A1	ORPHA:94068
HP:0005881	Spinal instability	1280	COL2A1	ORPHA:93346
HP:0010055	Broad hallux	10682	EBP	ORPHA:401973
HP:0010055	Broad hallux	10682	EBP	OMIM:300960
HP:0010055	Broad hallux	658	BMPR1B	OMIM:112600
HP:0010055	Broad hallux	8200	GDF5	OMIM:112600
HP:0010055	Broad hallux	650	BMP2	OMIM:112600
HP:0010055	Broad hallux	22827	PUF60	ORPHA:508498
HP:0010055	Broad hallux	1947	EFNB1	OMIM:304110
HP:0010055	Broad hallux	8243	SMC1A	OMIM:301044
HP:0010055	Broad hallux	23394	ADNP	ORPHA:404448
HP:0010055	Broad hallux	23394	ADNP	OMIM:615873
HP:0010055	Broad hallux	5518	PPP2R1A	OMIM:616362
HP:0010055	Broad hallux	5518	PPP2R1A	ORPHA:457284
HP:0010055	Broad hallux	10262	SF3B4	OMIM:154400
HP:0010055	Broad hallux	6477	SIAH1	OMIM:619314
HP:0010055	Broad hallux	3590	IL11RA	OMIM:614188
HP:0010055	Broad hallux	26005	C2CD3	ORPHA:434179
HP:0010055	Broad hallux	26005	C2CD3	OMIM:615948
HP:0010055	Broad hallux	1387	CREBBP	OMIM:180849
HP:0010055	Broad hallux	1387	CREBBP	ORPHA:353281
HP:0010055	Broad hallux	1387	CREBBP	ORPHA:353277
HP:0010055	Broad hallux	1387	CREBBP	OMIM:618332
HP:0010055	Broad hallux	2033	EP300	OMIM:180849
HP:0010055	Broad hallux	2033	EP300	ORPHA:353284
HP:0010055	Broad hallux	2033	EP300	OMIM:613684
HP:0010055	Broad hallux	2737	GLI3	OMIM:175700
HP:0010055	Broad hallux	10059	DNM1L	OMIM:614388
HP:0010055	Broad hallux	2263	FGFR2	OMIM:149730
HP:0010055	Broad hallux	2263	FGFR2	OMIM:123150
HP:0010055	Broad hallux	2263	FGFR2	OMIM:101600
HP:0010055	Broad hallux	23314	SATB2	ORPHA:251028
HP:0010055	Broad hallux	2254	FGF9	OMIM:612961
HP:0010055	Broad hallux	79005	SCNM1	OMIM:620107
HP:0010055	Broad hallux	4329	ALDH6A1	OMIM:614105
HP:0010055	Broad hallux	84720	PIGO	OMIM:614749
HP:0010055	Broad hallux	80036	TRPM3	OMIM:620224
HP:0010055	Broad hallux	8085	KMT2D	OMIM:620186
HP:0010055	Broad hallux	285362	SUMF1	OMIM:272200
HP:0010055	Broad hallux	10060	ABCC9	OMIM:239850
HP:0010055	Broad hallux	9839	ZEB2	ORPHA:261537
HP:0010055	Broad hallux	9839	ZEB2	ORPHA:261552
HP:0010055	Broad hallux	10236	HNRNPR	OMIM:620073
HP:0010055	Broad hallux	9241	NOG	OMIM:184460
HP:0010055	Broad hallux	1457	CSNK2A1	OMIM:617062
HP:0010055	Broad hallux	2316	FLNA	OMIM:300321
HP:0010055	Broad hallux	2316	FLNA	OMIM:304120
HP:0010055	Broad hallux	2316	FLNA	OMIM:311300
HP:0010055	Broad hallux	3239	HOXD13	OMIM:186000
HP:0010055	Broad hallux	54880	BCOR	OMIM:300166
HP:0010055	Broad hallux	28952	CCDC22	OMIM:300963
HP:0010055	Broad hallux	8239	USP9X	OMIM:300919
HP:0010055	Broad hallux	7140	TNNT3	OMIM:618435
HP:0010055	Broad hallux	4882	NPR2	OMIM:615923
HP:0010055	Broad hallux	2260	FGFR1	OMIM:123150
HP:0010055	Broad hallux	2260	FGFR1	OMIM:101600
HP:0010055	Broad hallux	9968	MED12	OMIM:305450
HP:0010055	Broad hallux	137814	NKX2-6	OMIM:217095
HP:0010055	Broad hallux	1482	NKX2-5	OMIM:217095
HP:0010055	Broad hallux	6899	TBX1	OMIM:217095
HP:0010055	Broad hallux	2627	GATA6	OMIM:217095
HP:0010055	Broad hallux	1749	DLX5	OMIM:183600
HP:0010055	Broad hallux	2239	GPC4	OMIM:301026
HP:0010055	Broad hallux	50515	CHST11	OMIM:618167
HP:0010055	Broad hallux	8260	NAA10	OMIM:300855
HP:0010055	Broad hallux	8260	NAA10	ORPHA:276432
HP:0010055	Broad hallux	2186	BPTF	OMIM:617755
HP:0010055	Broad hallux	387	RHOA	OMIM:618727
HP:0010055	Broad hallux	64359	NXN	OMIM:618529
HP:0010055	Broad hallux	51594	NBAS	OMIM:614800
HP:0010055	Broad hallux	29920	PYCR2	ORPHA:481152
HP:0010055	Broad hallux	9757	KMT2B	OMIM:619934
HP:0010055	Broad hallux	51057	WDPCP	OMIM:217085
HP:0010055	Broad hallux	4750	NEK1	ORPHA:2751
HP:0010055	Broad hallux	176	ACAN	OMIM:165800
HP:0010055	Broad hallux	3756	KCNH1	OMIM:611816
HP:0010055	Broad hallux	444	ASPH	OMIM:601552
HP:0010055	Broad hallux	7319	UBE2A	OMIM:300860
HP:0010055	Broad hallux	4212	MEIS2	OMIM:600987
HP:0010055	Broad hallux	26040	SETBP1	OMIM:616078
HP:0010055	Broad hallux	2261	FGFR3	OMIM:602849
HP:0010055	Broad hallux	2702	GJA5	OMIM:612474
HP:0010055	Broad hallux	2703	GJA8	OMIM:612474
HP:0010055	Broad hallux	5144	PDE4D	ORPHA:439822
HP:0010055	Broad hallux	57178	ZMIZ1	OMIM:618659
HP:0010055	Broad hallux	9851	KIAA0753	OMIM:617127
HP:0010055	Broad hallux	6878	TAF6	OMIM:617126
HP:0010055	Broad hallux	3930	LBR	OMIM:618019
HP:0010055	Broad hallux	7291	TWIST1	OMIM:180750
HP:0010055	Broad hallux	1280	COL2A1	ORPHA:1856
HP:0010055	Broad hallux	4038	LRP4	OMIM:212780
HP:0100830	Round ear	9702	CEP57	OMIM:614114
HP:0100830	Round ear	7140	TNNT3	ORPHA:1147
HP:0100830	Round ear	4621	MYH3	ORPHA:1147
HP:0100830	Round ear	7169	TPM2	ORPHA:1147
HP:0100830	Round ear	259232	NALCN	ORPHA:1147
HP:0100830	Round ear	7136	TNNI2	ORPHA:1147
HP:0100830	Round ear	5702	PSMC3	OMIM:619354
HP:0100831	Abnormality of vitamin K metabolism	9414	TJP2	OMIM:607748
HP:0100831	Abnormality of vitamin K metabolism	23600	AMACR	ORPHA:79095
HP:0100831	Abnormality of vitamin K metabolism	3117	HLA-DQA1	OMIM:212750
HP:0100831	Abnormality of vitamin K metabolism	3119	HLA-DQB1	OMIM:212750
HP:0100831	Abnormality of vitamin K metabolism	2859	GPR35	ORPHA:171
HP:0100831	Abnormality of vitamin K metabolism	10507	SEMA4D	ORPHA:171
HP:0100831	Abnormality of vitamin K metabolism	4485	MST1	ORPHA:171
HP:0100831	Abnormality of vitamin K metabolism	6925	TCF4	ORPHA:171
HP:0100831	Abnormality of vitamin K metabolism	199221	DZIP1L	ORPHA:731
HP:0100831	Abnormality of vitamin K metabolism	5314	PKHD1	ORPHA:731
HP:0100831	Abnormality of vitamin K metabolism	134218	DNAJC21	ORPHA:811
HP:0100831	Abnormality of vitamin K metabolism	79631	EFL1	ORPHA:811
HP:0100831	Abnormality of vitamin K metabolism	51119	SBDS	ORPHA:811
HP:0100831	Abnormality of vitamin K metabolism	6729	SRP54	ORPHA:811
HP:0100832	Vitreous floaters	8322	FZD4	OMIM:133780
HP:0100832	Vitreous floaters	8322	FZD4	ORPHA:891
HP:0100832	Vitreous floaters	4041	LRP5	OMIM:133780
HP:0100832	Vitreous floaters	4041	LRP5	ORPHA:891
HP:0100832	Vitreous floaters	3105	HLA-A	ORPHA:179
HP:0100832	Vitreous floaters	403	ARL3	OMIM:618173
HP:0100832	Vitreous floaters	4693	NDP	ORPHA:891
HP:0100832	Vitreous floaters	1499	CTNNB1	ORPHA:891
HP:0100832	Vitreous floaters	23554	TSPAN12	ORPHA:891
HP:0100832	Vitreous floaters	79797	ZNF408	ORPHA:891
HP:0100832	Vitreous floaters	7276	TTR	ORPHA:85447
HP:0100832	Vitreous floaters	153642	ARSK	OMIM:619698
HP:0100832	Vitreous floaters	55214	P3H2	OMIM:614292
HP:0100832	Vitreous floaters	5062	PAK2	OMIM:618458
HP:0100833	Neoplasm of the small intestine	6392	SDHD	ORPHA:100093
HP:0100833	Neoplasm of the small intestine	4436	MSH2	OMIM:158320
HP:0100833	Neoplasm of the small intestine	324	APC	OMIM:175100
HP:0100833	Neoplasm of the small intestine	324	APC	ORPHA:247806
HP:0100833	Neoplasm of the small intestine	4913	NTHL1	OMIM:616415
HP:0100833	Neoplasm of the small intestine	4913	NTHL1	ORPHA:454840
HP:0100833	Neoplasm of the small intestine	4089	SMAD4	OMIM:174900
HP:0100833	Neoplasm of the small intestine	657	BMPR1A	OMIM:174900
HP:0100833	Neoplasm of the small intestine	657	BMPR1A	ORPHA:157794
HP:0100833	Neoplasm of the small intestine	26585	GREM1	ORPHA:157794
HP:0100833	Neoplasm of the small intestine	4292	MLH1	OMIM:276300
HP:0100833	Neoplasm of the small intestine	7373	COL14A1	ORPHA:79501
HP:0100833	Neoplasm of the small intestine	79719	AAGAB	ORPHA:79501
HP:0100833	Neoplasm of the small intestine	6794	STK11	ORPHA:2869
HP:0100833	Neoplasm of the small intestine	4000	LMNA	ORPHA:79474
HP:0100833	Neoplasm of the small intestine	7486	WRN	ORPHA:902
HP:0100833	Neoplasm of the small intestine	6389	SDHA	ORPHA:44890
HP:0100833	Neoplasm of the small intestine	6390	SDHB	ORPHA:44890
HP:0100833	Neoplasm of the small intestine	6391	SDHC	ORPHA:44890
HP:0100833	Neoplasm of the small intestine	5156	PDGFRA	ORPHA:44890
HP:0100833	Neoplasm of the small intestine	3815	KIT	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	4436	MSH2	OMIM:158320
HP:0100834	Neoplasm of the large intestine	4436	MSH2	OMIM:619096
HP:0100834	Neoplasm of the large intestine	4436	MSH2	OMIM:120435
HP:0100834	Neoplasm of the large intestine	4436	MSH2	ORPHA:144
HP:0100834	Neoplasm of the large intestine	4436	MSH2	ORPHA:587
HP:0100834	Neoplasm of the large intestine	30011	SH3KBP1	OMIM:300310
HP:0100834	Neoplasm of the large intestine	716	C1S	OMIM:617174
HP:0100834	Neoplasm of the large intestine	5378	PMS1	OMIM:120435
HP:0100834	Neoplasm of the large intestine	5378	PMS1	ORPHA:144
HP:0100834	Neoplasm of the large intestine	4092	SMAD7	OMIM:612229
HP:0100834	Neoplasm of the large intestine	6223	RPS19	OMIM:105650
HP:0100834	Neoplasm of the large intestine	1029	CDKN2A	ORPHA:524
HP:0100834	Neoplasm of the large intestine	1029	CDKN2A	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	4193	MDM2	ORPHA:524
HP:0100834	Neoplasm of the large intestine	22909	FAN1	ORPHA:144
HP:0100834	Neoplasm of the large intestine	3845	KRAS	ORPHA:144
HP:0100834	Neoplasm of the large intestine	3845	KRAS	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	9184	BUB3	ORPHA:1052
HP:0100834	Neoplasm of the large intestine	9702	CEP57	ORPHA:1052
HP:0100834	Neoplasm of the large intestine	9319	TRIP13	ORPHA:1052
HP:0100834	Neoplasm of the large intestine	672	BRCA1	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	285282	RABL3	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	675	BRCA2	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	79728	PALB2	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	23022	PALLD	ORPHA:1333
HP:0100834	Neoplasm of the large intestine	2304	FOXE1	ORPHA:319487
HP:0100834	Neoplasm of the large intestine	3026	HABP2	ORPHA:319487
HP:0100834	Neoplasm of the large intestine	9562	MINPP1	ORPHA:319487
HP:0100834	Neoplasm of the large intestine	8313	AXIN2	ORPHA:401911
HP:0100834	Neoplasm of the large intestine	8313	AXIN2	OMIM:608615
HP:0100834	Neoplasm of the large intestine	324	APC	ORPHA:261584
HP:0100834	Neoplasm of the large intestine	324	APC	ORPHA:99818
HP:0100834	Neoplasm of the large intestine	324	APC	OMIM:175100
HP:0100834	Neoplasm of the large intestine	324	APC	ORPHA:247806
HP:0100834	Neoplasm of the large intestine	324	APC	ORPHA:79665
HP:0100834	Neoplasm of the large intestine	54894	RNF43	ORPHA:157798
HP:0100834	Neoplasm of the large intestine	26585	GREM1	ORPHA:157794
HP:0100834	Neoplasm of the large intestine	657	BMPR1A	ORPHA:157794
HP:0100834	Neoplasm of the large intestine	657	BMPR1A	ORPHA:329971
HP:0100834	Neoplasm of the large intestine	657	BMPR1A	OMIM:610069
HP:0100834	Neoplasm of the large intestine	657	BMPR1A	ORPHA:79076
HP:0100834	Neoplasm of the large intestine	4913	NTHL1	ORPHA:454840
HP:0100834	Neoplasm of the large intestine	4913	NTHL1	OMIM:616415
HP:0100834	Neoplasm of the large intestine	4089	SMAD4	ORPHA:329971
HP:0100834	Neoplasm of the large intestine	2022	ENG	ORPHA:329971
HP:0100834	Neoplasm of the large intestine	8930	MBD4	OMIM:619975
HP:0100834	Neoplasm of the large intestine	4595	MUTYH	OMIM:608456
HP:0100834	Neoplasm of the large intestine	4595	MUTYH	ORPHA:247798
HP:0100834	Neoplasm of the large intestine	5426	POLE	ORPHA:447877
HP:0100834	Neoplasm of the large intestine	5424	POLD1	ORPHA:447877
HP:0100834	Neoplasm of the large intestine	4292	MLH1	OMIM:276300
HP:0100834	Neoplasm of the large intestine	5395	PMS2	OMIM:619101
HP:0100834	Neoplasm of the large intestine	4437	MSH3	OMIM:617100
HP:0100834	Neoplasm of the large intestine	4437	MSH3	ORPHA:480536
HP:0100834	Neoplasm of the large intestine	4072	EPCAM	OMIM:613244
HP:0100834	Neoplasm of the large intestine	5728	PTEN	ORPHA:79076
HP:0100834	Neoplasm of the large intestine	6714	SRC	OMIM:114500
HP:0100834	Neoplasm of the large intestine	201163	FLCN	OMIM:114500
HP:0100834	Neoplasm of the large intestine	10395	DLC1	OMIM:114500
HP:0100834	Neoplasm of the large intestine	11200	CHEK2	OMIM:114500
HP:0100834	Neoplasm of the large intestine	5290	PIK3CA	OMIM:114500
HP:0100834	Neoplasm of the large intestine	2033	EP300	OMIM:114500
HP:0100834	Neoplasm of the large intestine	5782	PTPN12	OMIM:114500
HP:0100834	Neoplasm of the large intestine	5320	PLA2G2A	OMIM:114500
HP:0100834	Neoplasm of the large intestine	6790	AURKA	OMIM:114500
HP:0100834	Neoplasm of the large intestine	1630	DCC	OMIM:114500
HP:0100834	Neoplasm of the large intestine	27030	MLH3	OMIM:114500
HP:0100834	Neoplasm of the large intestine	27030	MLH3	OMIM:614385
HP:0100834	Neoplasm of the large intestine	581	BAX	OMIM:114500
HP:0100834	Neoplasm of the large intestine	25788	RAD54B	OMIM:114500
HP:0100834	Neoplasm of the large intestine	595	CCND1	OMIM:114500
HP:0100834	Neoplasm of the large intestine	699	BUB1	OMIM:114500
HP:0100834	Neoplasm of the large intestine	701	BUB1B	OMIM:114500
HP:0100834	Neoplasm of the large intestine	2261	FGFR3	OMIM:114500
HP:0100834	Neoplasm of the large intestine	7097	TLR2	OMIM:114500
HP:0100834	Neoplasm of the large intestine	4893	NRAS	OMIM:114500
HP:0100834	Neoplasm of the large intestine	1499	CTNNB1	OMIM:114500
HP:0100834	Neoplasm of the large intestine	7157	TP53	OMIM:114500
HP:0100834	Neoplasm of the large intestine	4163	MCC	OMIM:114500
HP:0100834	Neoplasm of the large intestine	207	AKT1	OMIM:114500
HP:0100834	Neoplasm of the large intestine	5157	PDGFRL	OMIM:114500
HP:0100834	Neoplasm of the large intestine	5795	PTPRJ	OMIM:114500
HP:0100834	Neoplasm of the large intestine	673	BRAF	OMIM:114500
HP:0100834	Neoplasm of the large intestine	7048	TGFBR2	OMIM:614331
HP:0100834	Neoplasm of the large intestine	2956	MSH6	OMIM:614350
HP:0100834	Neoplasm of the large intestine	81704	DOCK8	ORPHA:217390
HP:0100834	Neoplasm of the large intestine	2859	GPR35	ORPHA:171
HP:0100834	Neoplasm of the large intestine	10507	SEMA4D	ORPHA:171
HP:0100834	Neoplasm of the large intestine	4485	MST1	ORPHA:171
HP:0100834	Neoplasm of the large intestine	6925	TCF4	ORPHA:171
HP:0100834	Neoplasm of the large intestine	6135	RPL11	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6138	RPL15	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6229	RPS24	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6125	RPL5	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6204	RPS10	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6165	RPL35A	ORPHA:124
HP:0100834	Neoplasm of the large intestine	2623	GATA1	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6232	RPS27	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6231	RPS26	ORPHA:124
HP:0100834	Neoplasm of the large intestine	11224	RPL35	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6160	RPL31	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6218	RPS17	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6201	RPS7	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6155	RPL27	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6154	RPL26	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6210	RPS15A	ORPHA:124
HP:0100834	Neoplasm of the large intestine	90121	TSR2	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6141	RPL18	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6235	RPS29	ORPHA:124
HP:0100834	Neoplasm of the large intestine	6234	RPS28	ORPHA:124
HP:0100834	Neoplasm of the large intestine	51816	ADA2	ORPHA:124
HP:0100834	Neoplasm of the large intestine	7373	COL14A1	ORPHA:79501
HP:0100834	Neoplasm of the large intestine	79719	AAGAB	ORPHA:79501
HP:0100834	Neoplasm of the large intestine	64218	SEMA4A	ORPHA:440437
HP:0100834	Neoplasm of the large intestine	6224	RPS20	ORPHA:440437
HP:0100834	Neoplasm of the large intestine	641	BLM	ORPHA:125
HP:0100834	Neoplasm of the large intestine	6794	STK11	ORPHA:2869
HP:0100834	Neoplasm of the large intestine	6389	SDHA	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	6390	SDHB	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	6391	SDHC	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	5156	PDGFRA	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	3815	KIT	ORPHA:44890
HP:0100834	Neoplasm of the large intestine	5573	PRKAR1A	ORPHA:1359
HP:0100834	Neoplasm of the large intestine	50940	PDE11A	ORPHA:1359
HP:0100834	Neoplasm of the large intestine	10483	SEC23B	ORPHA:201
HP:0100834	Neoplasm of the large intestine	6392	SDHD	ORPHA:201
HP:0100834	Neoplasm of the large intestine	205717	USF3	ORPHA:201
HP:0100834	Neoplasm of the large intestine	100144748	KLLN	ORPHA:201
HP:0100834	Neoplasm of the large intestine	9817	KEAP1	ORPHA:276399
HP:0100834	Neoplasm of the large intestine	23405	DICER1	ORPHA:276399
HP:0100835	Benign neoplasm of the central nervous system	2737	GLI3	ORPHA:672
HP:0100835	Benign neoplasm of the central nervous system	2737	GLI3	OMIM:146510
HP:0100835	Benign neoplasm of the central nervous system	8481	OFD1	OMIM:311200
HP:0100835	Benign neoplasm of the central nervous system	8481	OFD1	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	6608	SMO	OMIM:241800
HP:0100835	Benign neoplasm of the central nervous system	64601	VPS16	OMIM:619291
HP:0100835	Benign neoplasm of the central nervous system	4990	SIX6	OMIM:206900
HP:0100835	Benign neoplasm of the central nervous system	6657	SOX2	OMIM:206900
HP:0100835	Benign neoplasm of the central nervous system	4123	MAN2C1	OMIM:619775
HP:0100835	Benign neoplasm of the central nervous system	65250	CPLANE1	OMIM:277170
HP:0100835	Benign neoplasm of the central nervous system	65250	CPLANE1	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	7074	TIAM1	OMIM:619908
HP:0100835	Benign neoplasm of the central nervous system	10210	TOPORS	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	9851	KIAA0753	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	26123	TCTN3	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	5147	PDE6D	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	51259	TMEM216	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	317662	FAM149B1	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	374654	KIF7	ORPHA:2754
HP:0100835	Benign neoplasm of the central nervous system	4221	MEN1	ORPHA:652
HP:0100835	Benign neoplasm of the central nervous system	1027	CDKN1B	ORPHA:652
HP:0100835	Benign neoplasm of the central nervous system	1026	CDKN1A	ORPHA:652
HP:0100835	Benign neoplasm of the central nervous system	1030	CDKN2B	ORPHA:652
HP:0100835	Benign neoplasm of the central nervous system	1031	CDKN2C	ORPHA:652
HP:0100835	Benign neoplasm of the central nervous system	4763	NF1	OMIM:162200
HP:0100835	Benign neoplasm of the central nervous system	4913	NTHL1	ORPHA:454840
HP:0100835	Benign neoplasm of the central nervous system	4913	NTHL1	OMIM:616415
HP:0100835	Benign neoplasm of the central nervous system	1387	CREBBP	ORPHA:353277
HP:0100835	Benign neoplasm of the central nervous system	1387	CREBBP	ORPHA:353281
HP:0100835	Benign neoplasm of the central nervous system	8930	MBD4	OMIM:619975
HP:0100835	Benign neoplasm of the central nervous system	7486	WRN	ORPHA:902
HP:0100835	Benign neoplasm of the central nervous system	7486	WRN	OMIM:277700
HP:0100835	Benign neoplasm of the central nervous system	11200	CHEK2	OMIM:609265
HP:0100835	Benign neoplasm of the central nervous system	10483	SEC23B	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	6390	SDHB	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	6392	SDHD	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	6391	SDHC	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	205717	USF3	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	100144748	KLLN	ORPHA:201
HP:0100835	Benign neoplasm of the central nervous system	11235	PDCD10	ORPHA:221061
HP:0100835	Benign neoplasm of the central nervous system	83605	CCM2	ORPHA:221061
HP:0100835	Benign neoplasm of the central nervous system	889	KRIT1	ORPHA:221061
HP:0100835	Benign neoplasm of the central nervous system	8665	EIF3F	OMIM:618295
HP:0100835	Benign neoplasm of the central nervous system	4893	NRAS	OMIM:249400
HP:0100835	Benign neoplasm of the central nervous system	79798	ARMC5	ORPHA:189427
HP:0100835	Benign neoplasm of the central nervous system	2778	GNAS	ORPHA:189427
HP:0100835	Benign neoplasm of the central nervous system	2033	EP300	ORPHA:353284
HP:0100835	Benign neoplasm of the central nervous system	4000	LMNA	ORPHA:79474
HP:0100835	Benign neoplasm of the central nervous system	4330	MN1	OMIM:607174
HP:0100835	Benign neoplasm of the central nervous system	7428	VHL	ORPHA:892
HP:0100835	Benign neoplasm of the central nervous system	7428	VHL	OMIM:193300
HP:0100835	Benign neoplasm of the central nervous system	595	CCND1	ORPHA:892
HP:0100835	Benign neoplasm of the central nervous system	595	CCND1	OMIM:193300
HP:0100835	Benign neoplasm of the central nervous system	257	ALX3	OMIM:136760
HP:0100835	Benign neoplasm of the central nervous system	257	ALX3	ORPHA:391474
HP:0100835	Benign neoplasm of the central nervous system	8092	ALX1	ORPHA:306542
HP:0100835	Benign neoplasm of the central nervous system	1743	DLST	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	4191	MDH2	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	5979	RET	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	6389	SDHA	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	23095	KIF1B	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	2271	FH	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	8402	SLC25A11	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	54949	SDHAF2	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	55654	TMEM127	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	4149	MAX	ORPHA:29072
HP:0100835	Benign neoplasm of the central nervous system	2639	GCDH	ORPHA:25
HP:0100835	Benign neoplasm of the central nervous system	7249	TSC2	OMIM:613254
HP:0100835	Benign neoplasm of the central nervous system	7249	TSC2	ORPHA:805
HP:0100835	Benign neoplasm of the central nervous system	3458	IFNG	OMIM:613254
HP:0100835	Benign neoplasm of the central nervous system	3458	IFNG	ORPHA:805
HP:0100835	Benign neoplasm of the central nervous system	7248	TSC1	ORPHA:805
HP:0100835	Benign neoplasm of the central nervous system	7248	TSC1	OMIM:191100
HP:0100835	Benign neoplasm of the central nervous system	5728	PTEN	ORPHA:79076
HP:0100835	Benign neoplasm of the central nervous system	657	BMPR1A	ORPHA:79076
HP:0100835	Benign neoplasm of the central nervous system	57688	ZSWIM6	OMIM:603671
HP:0100835	Benign neoplasm of the central nervous system	8314	BAP1	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	4771	NF2	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	4771	NF2	ORPHA:637
HP:0100835	Benign neoplasm of the central nervous system	6598	SMARCB1	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	5155	PDGFB	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	84231	TRAF7	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	207	AKT1	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	5290	PIK3CA	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	7015	TERT	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	51684	SUFU	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	6605	SMARCE1	ORPHA:2495
HP:0100835	Benign neoplasm of the central nervous system	2260	FGFR1	OMIM:613001
HP:0100835	Benign neoplasm of the central nervous system	64218	SEMA4A	ORPHA:440437
HP:0100835	Benign neoplasm of the central nervous system	6224	RPS20	ORPHA:440437
HP:0100835	Benign neoplasm of the central nervous system	4072	EPCAM	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	4292	MLH1	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	5395	PMS2	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	27030	MLH3	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	22909	FAN1	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	7048	TGFBR2	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	3845	KRAS	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	2956	MSH6	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	5378	PMS1	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	4436	MSH2	ORPHA:144
HP:0100835	Benign neoplasm of the central nervous system	9508	ADAMTS3	ORPHA:2136
HP:0100835	Benign neoplasm of the central nervous system	147372	CCBE1	ORPHA:2136
HP:0100835	Benign neoplasm of the central nervous system	79633	FAT4	ORPHA:2136
HP:0100835	Benign neoplasm of the central nervous system	4854	NOTCH3	ORPHA:2591
HP:0100835	Benign neoplasm of the central nervous system	5159	PDGFRB	ORPHA:2591
HP:0100835	Benign neoplasm of the central nervous system	4952	OCRL	ORPHA:534
HP:0100835	Benign neoplasm of the central nervous system	51057	WDPCP	ORPHA:1338
HP:0100835	Benign neoplasm of the central nervous system	7157	TP53	OMIM:260500
HP:0100835	Benign neoplasm of the central nervous system	7157	TP53	ORPHA:2807
HP:0100836	Malignant neoplasm of the central nervous system	23405	DICER1	OMIM:601200
HP:0100836	Malignant neoplasm of the central nervous system	5727	PTCH1	ORPHA:77301
HP:0100836	Malignant neoplasm of the central nervous system	5727	PTCH1	OMIM:109400
HP:0100836	Malignant neoplasm of the central nervous system	171023	ASXL1	ORPHA:97297
HP:0100836	Malignant neoplasm of the central nervous system	23432	GPR161	OMIM:155255
HP:0100836	Malignant neoplasm of the central nervous system	51684	SUFU	OMIM:155255
HP:0100836	Malignant neoplasm of the central nervous system	8518	ELP1	OMIM:155255
HP:0100836	Malignant neoplasm of the central nervous system	8643	PTCH2	OMIM:155255
HP:0100836	Malignant neoplasm of the central nervous system	1499	CTNNB1	OMIM:155255
HP:0100836	Malignant neoplasm of the central nervous system	79728	PALB2	OMIM:610832
HP:0100836	Malignant neoplasm of the central nervous system	4221	MEN1	ORPHA:652
HP:0100836	Malignant neoplasm of the central nervous system	1027	CDKN1B	ORPHA:652
HP:0100836	Malignant neoplasm of the central nervous system	1026	CDKN1A	ORPHA:652
HP:0100836	Malignant neoplasm of the central nervous system	1030	CDKN2B	ORPHA:652
HP:0100836	Malignant neoplasm of the central nervous system	1031	CDKN2C	ORPHA:652
HP:0100836	Malignant neoplasm of the central nervous system	65998	ZFTA	ORPHA:251636
HP:0100836	Malignant neoplasm of the central nervous system	5970	RELA	ORPHA:251636
HP:0100836	Malignant neoplasm of the central nervous system	26040	SETBP1	ORPHA:798
HP:0100836	Malignant neoplasm of the central nervous system	7528	YY1	ORPHA:506358
HP:0100836	Malignant neoplasm of the central nervous system	2239	GPC4	ORPHA:373
HP:0100836	Malignant neoplasm of the central nervous system	2719	GPC3	ORPHA:373
HP:0100836	Malignant neoplasm of the central nervous system	6390	SDHB	OMIM:115310
HP:0100836	Malignant neoplasm of the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	2563	GABRD	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	23013	SPEN	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	8510	MMP23B	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	7798	LUZP1	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	6497	SKI	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	10630	PDPN	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	3339	HSPG2	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	10277	UBE4B	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	473	RERE	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	63976	PRDM16	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	54897	CASZ1	ORPHA:1606
HP:0100836	Malignant neoplasm of the central nervous system	5781	PTPN11	ORPHA:500
HP:0100836	Malignant neoplasm of the central nervous system	673	BRAF	ORPHA:500
HP:0100836	Malignant neoplasm of the central nervous system	5894	RAF1	ORPHA:500
HP:0100836	Malignant neoplasm of the central nervous system	861	RUNX1	OMIM:601399
HP:0100836	Malignant neoplasm of the central nervous system	5979	RET	ORPHA:99803
HP:0100836	Malignant neoplasm of the central nervous system	429	ASCL1	ORPHA:99803
HP:0100836	Malignant neoplasm of the central nervous system	23476	BRD4	ORPHA:443167
HP:0100836	Malignant neoplasm of the central nervous system	256646	NUTM1	ORPHA:443167
HP:0100836	Malignant neoplasm of the central nervous system	8929	PHOX2B	OMIM:613013
HP:0100836	Malignant neoplasm of the central nervous system	8929	PHOX2B	ORPHA:661
HP:0100836	Malignant neoplasm of the central nervous system	8929	PHOX2B	ORPHA:2151
HP:0100836	Malignant neoplasm of the central nervous system	8929	PHOX2B	OMIM:209880
HP:0100836	Malignant neoplasm of the central nervous system	1908	EDN3	ORPHA:661
HP:0100836	Malignant neoplasm of the central nervous system	2668	GDNF	ORPHA:661
HP:0100836	Malignant neoplasm of the central nervous system	627	BDNF	ORPHA:661
HP:0100836	Malignant neoplasm of the central nervous system	283446	MYO1H	ORPHA:661
HP:0100836	Malignant neoplasm of the central nervous system	23095	KIF1B	OMIM:256700
HP:0100836	Malignant neoplasm of the central nervous system	203068	TUBB	ORPHA:2505
HP:0100836	Malignant neoplasm of the central nervous system	203068	TUBB	OMIM:156610
HP:0100836	Malignant neoplasm of the central nervous system	10982	MAPRE2	ORPHA:2505
HP:0100836	Malignant neoplasm of the central nervous system	9817	KEAP1	ORPHA:276399
HP:0100836	Malignant neoplasm of the central nervous system	2956	MSH6	OMIM:619097
HP:0100836	Malignant neoplasm of the central nervous system	7157	TP53	OMIM:137800
HP:0100836	Malignant neoplasm of the central nervous system	7157	TP53	ORPHA:524
HP:0100836	Malignant neoplasm of the central nervous system	2064	ERBB2	OMIM:137800
HP:0100836	Malignant neoplasm of the central nervous system	3417	IDH1	OMIM:137800
HP:0100836	Malignant neoplasm of the central nervous system	3417	IDH1	ORPHA:163634
HP:0100836	Malignant neoplasm of the central nervous system	1029	CDKN2A	OMIM:155755
HP:0100836	Malignant neoplasm of the central nervous system	1029	CDKN2A	ORPHA:524
HP:0100836	Malignant neoplasm of the central nervous system	25913	POT1	OMIM:616568
HP:0100836	Malignant neoplasm of the central nervous system	324	APC	ORPHA:99818
HP:0100836	Malignant neoplasm of the central nervous system	324	APC	OMIM:175100
HP:0100836	Malignant neoplasm of the central nervous system	324	APC	ORPHA:247806
HP:0100836	Malignant neoplasm of the central nervous system	324	APC	ORPHA:79665
HP:0100836	Malignant neoplasm of the central nervous system	4292	MLH1	OMIM:276300
HP:0100836	Malignant neoplasm of the central nervous system	64324	NSD1	ORPHA:821
HP:0100836	Malignant neoplasm of the central nervous system	29072	SETD2	ORPHA:821
HP:0100836	Malignant neoplasm of the central nervous system	10297	APC2	ORPHA:821
HP:0100836	Malignant neoplasm of the central nervous system	4193	MDM2	ORPHA:524
HP:0100836	Malignant neoplasm of the central nervous system	11200	CHEK2	ORPHA:524
HP:0100836	Malignant neoplasm of the central nervous system	5395	PMS2	OMIM:619101
HP:0100836	Malignant neoplasm of the central nervous system	4437	MSH3	OMIM:617100
HP:0100836	Malignant neoplasm of the central nervous system	4437	MSH3	ORPHA:480536
HP:0100836	Malignant neoplasm of the central nervous system	2260	FGFR1	OMIM:613001
HP:0100836	Malignant neoplasm of the central nervous system	3418	IDH2	ORPHA:163634
HP:0100836	Malignant neoplasm of the central nervous system	675	BRCA2	OMIM:613029
HP:0100836	Malignant neoplasm of the central nervous system	4771	NF2	ORPHA:637
HP:0100836	Malignant neoplasm of the central nervous system	4771	NF2	OMIM:101000
HP:0100836	Malignant neoplasm of the central nervous system	7249	TSC2	OMIM:613254
HP:0100836	Malignant neoplasm of the central nervous system	7249	TSC2	ORPHA:805
HP:0100836	Malignant neoplasm of the central nervous system	3458	IFNG	OMIM:613254
HP:0100836	Malignant neoplasm of the central nervous system	3458	IFNG	ORPHA:805
HP:0100836	Malignant neoplasm of the central nervous system	7248	TSC1	ORPHA:805
HP:0100836	Malignant neoplasm of the central nervous system	4683	NBN	OMIM:251260
HP:0100836	Malignant neoplasm of the central nervous system	4683	NBN	ORPHA:647
HP:0100836	Malignant neoplasm of the central nervous system	6608	SMO	OMIM:241800
HP:0100836	Malignant neoplasm of the central nervous system	161742	SPRED1	ORPHA:137605
HP:0100836	Malignant neoplasm of the central nervous system	4763	NF1	ORPHA:97685
HP:0100836	Malignant neoplasm of the central nervous system	64218	SEMA4A	ORPHA:440437
HP:0100836	Malignant neoplasm of the central nervous system	657	BMPR1A	ORPHA:440437
HP:0100836	Malignant neoplasm of the central nervous system	6224	RPS20	ORPHA:440437
HP:0100836	Malignant neoplasm of the central nervous system	4072	EPCAM	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	27030	MLH3	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	22909	FAN1	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	7048	TGFBR2	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	3845	KRAS	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	5290	PIK3CA	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	5378	PMS1	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	4436	MSH2	ORPHA:144
HP:0100836	Malignant neoplasm of the central nervous system	4436	MSH2	OMIM:619096
HP:0100836	Malignant neoplasm of the central nervous system	6598	SMARCB1	ORPHA:99966
HP:0100837	Atrophodermia vermiculata	22861	NLRP1	OMIM:618803
HP:0100838	Recurrent cutaneous abscess formation	695	BTK	ORPHA:47
HP:0100838	Recurrent cutaneous abscess formation	10804	GJB6	ORPHA:477
HP:0100838	Recurrent cutaneous abscess formation	2706	GJB2	ORPHA:477
HP:0100838	Recurrent cutaneous abscess formation	146206	CARMIL2	OMIM:618131
HP:0100838	Recurrent cutaneous abscess formation	3937	LCP2	OMIM:619374
HP:0100838	Recurrent cutaneous abscess formation	7319	UBE2A	ORPHA:163956
HP:0100838	Recurrent cutaneous abscess formation	55851	PSENEN	OMIM:613736
HP:0100838	Recurrent cutaneous abscess formation	5663	PSEN1	OMIM:613737
HP:0100838	Recurrent cutaneous abscess formation	1075	CTSC	ORPHA:678
HP:0011302	Long palm	6611	SMS	OMIM:309583
HP:0011302	Long palm	81031	SLC2A10	ORPHA:3342
HP:0011302	Long palm	65109	UPF3B	OMIM:300676
HP:0011302	Long palm	89910	UBE3B	OMIM:244450
HP:0011302	Long palm	5447	POR	ORPHA:95699
HP:0011300	Broad fingertip	3248	HPGD	ORPHA:217059
HP:0011300	Broad fingertip	10847	SRCAP	ORPHA:2044
HP:0011300	Broad fingertip	10847	SRCAP	OMIM:136140
HP:0011300	Broad fingertip	25782	RAB3GAP2	OMIM:212720
HP:0011300	Broad fingertip	6925	TCF4	OMIM:610954
HP:0011300	Broad fingertip	6925	TCF4	ORPHA:2896
HP:0011308	Slender toe	6611	SMS	ORPHA:3063
HP:0011308	Slender toe	11285	B4GALT7	OMIM:130070
HP:0011308	Slender toe	93587	TRMT10A	ORPHA:391408
HP:0011308	Slender toe	84919	PPP1R15B	ORPHA:391408
HP:0011308	Slender toe	157680	VPS13B	ORPHA:193
HP:0011308	Slender toe	4534	MTM1	OMIM:310400
HP:0011305	Partial absence of toe	4853	NOTCH2	ORPHA:955
HP:0500093	Food allergy	9939	RBM8A	OMIM:274000
HP:0500093	Food allergy	54914	FOCAD	OMIM:619991
HP:0500093	Food allergy	10999	SLC27A4	OMIM:608649
HP:0500093	Food allergy	81704	DOCK8	OMIM:243700
HP:0500093	Food allergy	55553	SOX6	OMIM:618971
HP:0500093	Food allergy	3572	IL6ST	OMIM:619752
HP:0500093	Food allergy	3572	IL6ST	OMIM:618523
HP:0500093	Food allergy	6711	SPTBN1	OMIM:619475
HP:0500093	Food allergy	816	CAMK2B	OMIM:617799
HP:0500093	Food allergy	11005	SPINK5	OMIM:256500
HP:0500093	Food allergy	84433	CARD11	OMIM:617638
HP:0500093	Food allergy	3716	JAK1	OMIM:618999
HP:0500093	Food allergy	1828	DSG1	OMIM:615508
HP:0500093	Food allergy	5238	PGM3	OMIM:615816
HP:0500093	Food allergy	50943	FOXP3	OMIM:304790
HP:0500093	Food allergy	10060	ABCC9	OMIM:619719
HP:0500093	Food allergy	3514	IGKC	ORPHA:183675
HP:0500093	Food allergy	3501	IGHG2	ORPHA:183675
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54345	SOX18	OMIM:137940
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54345	SOX18	ORPHA:69735
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54345	SOX18	OMIM:607823
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5317	PKP1	OMIM:604536
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4953	ODC1	OMIM:619075
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4953	ODC1	ORPHA:544488
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8313	AXIN2	OMIM:608615
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1832	DSP	ORPHA:158687
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3728	JUP	ORPHA:158687
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3845	KRAS	OMIM:615278
HP:0100840	Aplasia/Hypoplasia of the eyebrow	673	BRAF	OMIM:115150
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8092	ALX1	OMIM:613456
HP:0100840	Aplasia/Hypoplasia of the eyebrow	128178	EDARADD	OMIM:614941
HP:0100840	Aplasia/Hypoplasia of the eyebrow	64682	ANAPC1	OMIM:618625
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11128	POLR3A	OMIM:264090
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80144	FRAS1	OMIM:219000
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3891	KRT85	OMIM:602032
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55806	HR	ORPHA:701
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55806	HR	OMIM:203655
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10283	CWC27	ORPHA:166035
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9401	RECQL4	OMIM:268400
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10804	GJB6	ORPHA:189
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4000	LMNA	ORPHA:740
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4000	LMNA	ORPHA:363618
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10269	ZMPSTE24	ORPHA:740
HP:0100840	Aplasia/Hypoplasia of the eyebrow	51360	MBTPS2	OMIM:308205
HP:0100840	Aplasia/Hypoplasia of the eyebrow	51360	MBTPS2	ORPHA:2273
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5605	MAP2K2	OMIM:615280
HP:0100840	Aplasia/Hypoplasia of the eyebrow	117581	TWIST2	OMIM:200110
HP:0100840	Aplasia/Hypoplasia of the eyebrow	117581	TWIST2	ORPHA:920
HP:0100840	Aplasia/Hypoplasia of the eyebrow	84946	LTV1	OMIM:620199
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1896	EDA	OMIM:305100
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7390	UROS	OMIM:263700
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5297	PI4KA	ORPHA:436252
HP:0100840	Aplasia/Hypoplasia of the eyebrow	57217	TTC7A	ORPHA:436252
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6595	SMARCA2	OMIM:601358
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54101	RIPK4	OMIM:263650
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2697	GJA1	ORPHA:1010
HP:0100840	Aplasia/Hypoplasia of the eyebrow	89910	UBE3B	ORPHA:2707
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1001	CDH3	ORPHA:1897
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54888	NSUN2	ORPHA:235
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8367	H4C5	OMIM:619950
HP:0100840	Aplasia/Hypoplasia of the eyebrow	126695	KDF1	OMIM:617337
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80232	WDR26	OMIM:617616
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80232	WDR26	ORPHA:513456
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5361	PLXNA1	OMIM:619955
HP:0100840	Aplasia/Hypoplasia of the eyebrow	57511	COG6	ORPHA:363523
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10026	PIGK	OMIM:618879
HP:0100840	Aplasia/Hypoplasia of the eyebrow	51111	KMT5B	OMIM:617788
HP:0100840	Aplasia/Hypoplasia of the eyebrow	112802	KRT71	ORPHA:170
HP:0100840	Aplasia/Hypoplasia of the eyebrow	147183	KRT25	ORPHA:170
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10084	PQBP1	OMIM:309500
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3190	HNRNPK	OMIM:616580
HP:0100840	Aplasia/Hypoplasia of the eyebrow	92255	LMBRD2	OMIM:619694
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9487	PIGL	OMIM:280000
HP:0100840	Aplasia/Hypoplasia of the eyebrow	545	ATR	OMIM:614564
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23184	MESD	OMIM:618644
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6926	TBX3	OMIM:181450
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10524	KAT5	OMIM:619103
HP:0100840	Aplasia/Hypoplasia of the eyebrow	341208	HEPHL1	OMIM:261990
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5813	PURA	ORPHA:314655
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23511	NUP188	OMIM:618804
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7994	KAT6A	OMIM:616268
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6925	TCF4	OMIM:610954
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6477	SIAH1	OMIM:619314
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5934	RBL2	OMIM:619690
HP:0100840	Aplasia/Hypoplasia of the eyebrow	83999	KREMEN1	OMIM:617392
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8812	CCNK	OMIM:618147
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23483	TGDS	OMIM:616145
HP:0100840	Aplasia/Hypoplasia of the eyebrow	165	AEBP1	OMIM:618000
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10274	STAG1	OMIM:617635
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10274	STAG1	ORPHA:502434
HP:0100840	Aplasia/Hypoplasia of the eyebrow	773	CACNA1A	ORPHA:2131
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6507	SLC1A3	ORPHA:2131
HP:0100840	Aplasia/Hypoplasia of the eyebrow	477	ATP1A2	ORPHA:2131
HP:0100840	Aplasia/Hypoplasia of the eyebrow	478	ATP1A3	ORPHA:2131
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5189	PEX1	ORPHA:3220
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5190	PEX6	ORPHA:3220
HP:0100840	Aplasia/Hypoplasia of the eyebrow	64919	BCL11B	OMIM:618092
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8318	CDC45	OMIM:617063
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80816	ASXL3	OMIM:615485
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23030	KDM4B	OMIM:619320
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10157	AASS	ORPHA:2203
HP:0100840	Aplasia/Hypoplasia of the eyebrow	22907	DHX30	OMIM:617804
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7528	YY1	ORPHA:506358
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7528	YY1	OMIM:617557
HP:0100840	Aplasia/Hypoplasia of the eyebrow	147495	APCDD1	OMIM:605389
HP:0100840	Aplasia/Hypoplasia of the eyebrow	147495	APCDD1	ORPHA:55654
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11253	MAN1B1	ORPHA:397941
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11253	MAN1B1	OMIM:614202
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8925	HERC1	OMIM:617011
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8925	HERC1	ORPHA:457359
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8216	LZTR1	OMIM:616564
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8216	LZTR1	OMIM:605275
HP:0100840	Aplasia/Hypoplasia of the eyebrow	60529	ALX4	OMIM:613451
HP:0100840	Aplasia/Hypoplasia of the eyebrow	100151683	RNU4ATAC	OMIM:210710
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2972	BRF1	OMIM:616202
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2972	BRF1	ORPHA:444072
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9759	HDAC4	ORPHA:1001
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5894	RAF1	OMIM:611553
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8626	TP63	OMIM:604292
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8626	TP63	OMIM:129400
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8626	TP63	ORPHA:69085
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8626	TP63	ORPHA:1896
HP:0100840	Aplasia/Hypoplasia of the eyebrow	79650	USB1	OMIM:604173
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2706	GJB2	OMIM:602540
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2706	GJB2	ORPHA:477
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2706	GJB2	OMIM:148210
HP:0100840	Aplasia/Hypoplasia of the eyebrow	267010	RNU12	OMIM:603116
HP:0100840	Aplasia/Hypoplasia of the eyebrow	116931	MED12L	OMIM:618872
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9578	CDC42BPB	OMIM:619841
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3020	H3-3A	OMIM:619720
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6651	SON	OMIM:617140
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6651	SON	ORPHA:500150
HP:0100840	Aplasia/Hypoplasia of the eyebrow	57520	HECW2	OMIM:617268
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1825	DSC3	OMIM:613102
HP:0100840	Aplasia/Hypoplasia of the eyebrow	998	CDC42	OMIM:616737
HP:0100840	Aplasia/Hypoplasia of the eyebrow	998	CDC42	ORPHA:487796
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3872	KRT17	OMIM:167210
HP:0100840	Aplasia/Hypoplasia of the eyebrow	26128	KIFBP	ORPHA:66629
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9076	CLDN1	ORPHA:59303
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9076	CLDN1	OMIM:607626
HP:0100840	Aplasia/Hypoplasia of the eyebrow	79158	GNPTAB	OMIM:252500
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6904	TBCD	ORPHA:496641
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6904	TBCD	OMIM:617193
HP:0100840	Aplasia/Hypoplasia of the eyebrow	16	AARS1	OMIM:619691
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23221	RHOBTB2	OMIM:618004
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9469	CHST3	ORPHA:263463
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9469	CHST3	OMIM:143095
HP:0100840	Aplasia/Hypoplasia of the eyebrow	64324	NSD1	OMIM:117550
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54453	RIN2	OMIM:613075
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4141	MARS1	OMIM:619692
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10265	IRX5	OMIM:611174
HP:0100840	Aplasia/Hypoplasia of the eyebrow	81857	MED25	ORPHA:464738
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1801	DPH1	OMIM:616901
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1801	DPH1	ORPHA:459061
HP:0100840	Aplasia/Hypoplasia of the eyebrow	22845	DOLK	OMIM:610768
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6768	ST14	OMIM:602400
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7286	TUFT1	OMIM:607655
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1301	COL11A1	ORPHA:560
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9896	FIG4	ORPHA:3472
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9896	FIG4	OMIM:216340
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55697	VAC14	ORPHA:3472
HP:0100840	Aplasia/Hypoplasia of the eyebrow	23028	KDM1A	ORPHA:477993
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4212	MEIS2	OMIM:600987
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10682	EBP	ORPHA:35173
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10682	EBP	OMIM:302960
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8550	MAPKAPK5	OMIM:619869
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55012	PPP2R3C	OMIM:618419
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1954	MEGF8	OMIM:614976
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55210	ATAD3A	OMIM:618810
HP:0100840	Aplasia/Hypoplasia of the eyebrow	200734	SPRED2	OMIM:619745
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9419	CRIPT	OMIM:615789
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55623	THUMPD1	OMIM:619989
HP:0100840	Aplasia/Hypoplasia of the eyebrow	374393	FAM111B	OMIM:615704
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6234	RPS28	OMIM:606164
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11285	B4GALT7	ORPHA:75496
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6611	SMS	ORPHA:3063
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6611	SMS	OMIM:309583
HP:0100840	Aplasia/Hypoplasia of the eyebrow	200879	LIPH	OMIM:604379
HP:0100840	Aplasia/Hypoplasia of the eyebrow	200879	LIPH	ORPHA:55654
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7737	RNF113A	OMIM:300953
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4035	LRP1	OMIM:604093
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3675	ITGA3	OMIM:614748
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8085	KMT2D	OMIM:620186
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8085	KMT2D	OMIM:147920
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8405	SPOP	OMIM:618829
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10913	EDAR	OMIM:129490
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10913	EDAR	OMIM:224900
HP:0100840	Aplasia/Hypoplasia of the eyebrow	147409	DSG4	ORPHA:55654
HP:0100840	Aplasia/Hypoplasia of the eyebrow	147409	DSG4	OMIM:607903
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10161	LPAR6	ORPHA:55654
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10161	LPAR6	OMIM:278150
HP:0100840	Aplasia/Hypoplasia of the eyebrow	51611	DPH5	OMIM:620070
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2571	GAD1	OMIM:619124
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10651	MTX2	OMIM:619127
HP:0100840	Aplasia/Hypoplasia of the eyebrow	25959	KANK2	OMIM:616099
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11005	SPINK5	OMIM:256500
HP:0100840	Aplasia/Hypoplasia of the eyebrow	11005	SPINK5	ORPHA:634
HP:0100840	Aplasia/Hypoplasia of the eyebrow	54676	GTPBP2	OMIM:617988
HP:0100840	Aplasia/Hypoplasia of the eyebrow	79971	WLS	OMIM:619648
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10430	TMEM147	OMIM:620075
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7480	WNT10B	OMIM:617073
HP:0100840	Aplasia/Hypoplasia of the eyebrow	9968	MED12	OMIM:300895
HP:0100840	Aplasia/Hypoplasia of the eyebrow	153241	CEP120	OMIM:616300
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4781	NFIB	OMIM:618286
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4763	NF1	ORPHA:139474
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1748	DLX4	OMIM:616788
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10735	STAG2	ORPHA:521258
HP:0100840	Aplasia/Hypoplasia of the eyebrow	84168	ANTXR1	OMIM:230740
HP:0100840	Aplasia/Hypoplasia of the eyebrow	84168	ANTXR1	ORPHA:2067
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8815	BANF1	OMIM:614008
HP:0100840	Aplasia/Hypoplasia of the eyebrow	51574	LARP7	ORPHA:319671
HP:0100840	Aplasia/Hypoplasia of the eyebrow	121391	KRT74	OMIM:614929
HP:0100840	Aplasia/Hypoplasia of the eyebrow	120766137	HRURF	OMIM:146550
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6655	SOS2	OMIM:616559
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6654	SOS1	OMIM:610733
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3720	JARID2	OMIM:620098
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7403	KDM6A	OMIM:147920
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7227	TRPS1	ORPHA:77258
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5396	PRRX1	ORPHA:990
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5015	OTX2	ORPHA:990
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3039	HBA1	ORPHA:98791
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3040	HBA2	ORPHA:98791
HP:0100840	Aplasia/Hypoplasia of the eyebrow	134218	DNAJC21	OMIM:617052
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6635	SNRPE	OMIM:615059
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5116	PCNT	ORPHA:2637
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5604	MAP2K1	ORPHA:1340
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6023	RMRP	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	55636	CHD7	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3981	LIG4	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5896	RAG1	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5897	RAG2	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	64421	DCLRE1C	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	100	ADA	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3575	IL7R	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3561	IL2RG	ORPHA:39041
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80067	DCAF17	ORPHA:3464
HP:0100840	Aplasia/Hypoplasia of the eyebrow	4047	LSS	ORPHA:2850
HP:0100840	Aplasia/Hypoplasia of the eyebrow	197	AHSG	ORPHA:2850
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3694	ITGB6	ORPHA:2850
HP:0100840	Aplasia/Hypoplasia of the eyebrow	79574	EPS8L3	ORPHA:444
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10262	SF3B4	ORPHA:245
HP:0100840	Aplasia/Hypoplasia of the eyebrow	57539	WDR35	OMIM:614091
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1281	COL3A1	ORPHA:286
HP:0100840	Aplasia/Hypoplasia of the eyebrow	60401	EDA2R	ORPHA:181
HP:0100840	Aplasia/Hypoplasia of the eyebrow	80326	WNT10A	ORPHA:50944
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6144	RPL21	OMIM:615885
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8036	SHOC2	ORPHA:2701
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5500	PPP1CB	ORPHA:2701
HP:0100840	Aplasia/Hypoplasia of the eyebrow	5818	NECTIN1	ORPHA:3253
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8260	NAA10	ORPHA:276432
HP:0100840	Aplasia/Hypoplasia of the eyebrow	2313	FLI1	ORPHA:2308
HP:0100840	Aplasia/Hypoplasia of the eyebrow	151516	ASPRV1	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	242	ALOX12B	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	126410	CYP4F22	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	6820	SULT2B1	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	26154	ABCA12	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	643418	LIPN	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	59344	ALOXE3	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	348938	NIPAL4	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	121214	SDR9C7	ORPHA:313
HP:0100840	Aplasia/Hypoplasia of the eyebrow	7051	TGM1	ORPHA:313
HP:0100842	Septo-optic dysplasia	5626	PROP1	ORPHA:95494
HP:0100842	Septo-optic dysplasia	2736	GLI2	ORPHA:95494
HP:0100842	Septo-optic dysplasia	89884	LHX4	ORPHA:95494
HP:0100842	Septo-optic dysplasia	89884	LHX4	ORPHA:95496
HP:0100842	Septo-optic dysplasia	3170	FOXA2	ORPHA:95494
HP:0100842	Septo-optic dysplasia	5449	POU1F1	ORPHA:95494
HP:0100842	Septo-optic dysplasia	8820	HESX1	ORPHA:95494
HP:0100842	Septo-optic dysplasia	8820	HESX1	ORPHA:95496
HP:0100842	Septo-optic dysplasia	8820	HESX1	ORPHA:3157
HP:0100842	Septo-optic dysplasia	5015	OTX2	ORPHA:95494
HP:0100842	Septo-optic dysplasia	5015	OTX2	ORPHA:3157
HP:0100842	Septo-optic dysplasia	10735	STAG2	OMIM:301043
HP:0100842	Septo-optic dysplasia	128674	PROKR2	ORPHA:95496
HP:0100842	Septo-optic dysplasia	128674	PROKR2	ORPHA:3157
HP:0100842	Septo-optic dysplasia	55717	WDR11	ORPHA:95496
HP:0100842	Septo-optic dysplasia	6091	ROBO1	ORPHA:95496
HP:0100842	Septo-optic dysplasia	50937	CDON	ORPHA:95496
HP:0100842	Septo-optic dysplasia	23432	GPR161	ORPHA:95496
HP:0100842	Septo-optic dysplasia	9578	CDC42BPB	OMIM:619841
HP:0100842	Septo-optic dysplasia	2260	FGFR1	ORPHA:3157
HP:0100842	Septo-optic dysplasia	6657	SOX2	ORPHA:3157
HP:0100842	Septo-optic dysplasia	6658	SOX3	ORPHA:3157
HP:0100842	Septo-optic dysplasia	9915	ARNT2	ORPHA:3157
HP:0100842	Septo-optic dysplasia	7473	WNT3	ORPHA:3301
HP:0100842	Septo-optic dysplasia	340419	RSPO2	ORPHA:3301
HP:0100845	Anaphylactic shock	171023	ASXL1	ORPHA:98850
HP:0100845	Anaphylactic shock	54790	TET2	ORPHA:98850
HP:0100845	Anaphylactic shock	867	CBL	ORPHA:98850
HP:0100845	Anaphylactic shock	861	RUNX1	ORPHA:98850
HP:0100845	Anaphylactic shock	6427	SRSF2	ORPHA:98850
HP:0100845	Anaphylactic shock	3815	KIT	ORPHA:79455
HP:0100848	Neoplasm of the male external genitalia	6662	SOX9	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	6845	VAMP7	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	51741	WWOX	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	4214	MAP3K1	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	2516	NR5A1	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	7490	WT1	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	58524	DMRT3	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	57647	DHX37	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	6736	SRY	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	23414	ZFPM2	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	190	NR0B1	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	2626	GATA4	ORPHA:251510
HP:0100848	Neoplasm of the male external genitalia	6794	STK11	OMIM:175200
HP:0100848	Neoplasm of the male external genitalia	79577	CDC73	ORPHA:143
HP:0100848	Neoplasm of the male external genitalia	79577	CDC73	ORPHA:99880
HP:0100848	Neoplasm of the male external genitalia	284058	KANSL1	ORPHA:363965
HP:0100848	Neoplasm of the male external genitalia	284058	KANSL1	ORPHA:363958
HP:0100848	Neoplasm of the male external genitalia	2130	EWSR1	ORPHA:83469
HP:0100848	Neoplasm of the male external genitalia	5566	PRKACA	ORPHA:189439
HP:0100848	Neoplasm of the male external genitalia	8622	PDE8B	ORPHA:189439
HP:0100848	Neoplasm of the male external genitalia	412	STS	OMIM:308100
HP:0100848	Neoplasm of the male external genitalia	367	AR	ORPHA:99429
HP:0100848	Neoplasm of the male external genitalia	1027	CDKN1B	ORPHA:276152
HP:0100848	Neoplasm of the male external genitalia	5728	PTEN	ORPHA:744
HP:0100848	Neoplasm of the male external genitalia	207	AKT1	ORPHA:744
HP:0100848	Neoplasm of the male external genitalia	7157	TP53	ORPHA:524
HP:0100848	Neoplasm of the male external genitalia	1029	CDKN2A	ORPHA:524
HP:0100848	Neoplasm of the male external genitalia	4193	MDM2	ORPHA:524
HP:0100848	Neoplasm of the male external genitalia	11200	CHEK2	ORPHA:524
HP:0100848	Neoplasm of the male external genitalia	56246	MRAP	ORPHA:361
HP:0100848	Neoplasm of the male external genitalia	6770	STAR	ORPHA:361
HP:0100848	Neoplasm of the male external genitalia	4158	MC2R	ORPHA:361
HP:0100848	Neoplasm of the male external genitalia	23530	NNT	ORPHA:361
HP:0100848	Neoplasm of the male external genitalia	10587	TXNRD2	ORPHA:361
HP:0100848	Neoplasm of the male external genitalia	5573	PRKAR1A	ORPHA:1359
HP:0100848	Neoplasm of the male external genitalia	50940	PDE11A	ORPHA:1359
HP:0100848	Neoplasm of the male external genitalia	1584	CYP11B1	ORPHA:90795
HP:0100848	Neoplasm of the male external genitalia	3481	IGF2	OMIM:180860
HP:0100848	Neoplasm of the male external genitalia	9817	KEAP1	ORPHA:276399
HP:0100848	Neoplasm of the male external genitalia	23405	DICER1	ORPHA:276399
HP:0100848	Neoplasm of the male external genitalia	2313	FLI1	ORPHA:370348
HP:0100849	Neoplasm of the scrotum	2313	FLI1	ORPHA:370348
HP:0011313	Narrow nail	80326	WNT10A	OMIM:224750
HP:0011311	Sydney crease	7528	YY1	ORPHA:506358
HP:0011317	Right unicoronal synostosis	6938	TCF12	OMIM:615314
HP:0011317	Right unicoronal synostosis	9839	ZEB2	ORPHA:261537
HP:0011317	Right unicoronal synostosis	9839	ZEB2	ORPHA:261552
HP:0011317	Right unicoronal synostosis	7291	TWIST1	OMIM:123100
HP:0011318	Bicoronal synostosis	7545	ZIC1	OMIM:618736
HP:0011318	Bicoronal synostosis	7545	ZIC1	OMIM:616602
HP:0011318	Bicoronal synostosis	6938	TCF12	OMIM:615314
HP:0011318	Bicoronal synostosis	6938	TCF12	OMIM:619718
HP:0011318	Bicoronal synostosis	4488	MSX2	OMIM:604757
HP:0011318	Bicoronal synostosis	222663	SCUBE3	OMIM:619184
HP:0011318	Bicoronal synostosis	9401	RECQL4	OMIM:218600
HP:0011318	Bicoronal synostosis	2077	ERF	OMIM:600775
HP:0011318	Bicoronal synostosis	8294	H4C9	OMIM:619951
HP:0011318	Bicoronal synostosis	2260	FGFR1	ORPHA:93258
HP:0011318	Bicoronal synostosis	2263	FGFR2	ORPHA:93258
HP:0011318	Bicoronal synostosis	6608	SMO	OMIM:601707
HP:0011316	Left unicoronal synostosis	6938	TCF12	OMIM:615314
HP:0011316	Left unicoronal synostosis	84720	PIGO	OMIM:614749
HP:0011315	Unicoronal synostosis	4488	MSX2	OMIM:604757
HP:0011315	Unicoronal synostosis	153241	CEP120	OMIM:616300
HP:0011315	Unicoronal synostosis	6608	SMO	OMIM:601707
HP:0011315	Unicoronal synostosis	84720	PIGO	OMIM:614749
HP:0011315	Unicoronal synostosis	6938	TCF12	OMIM:615314
HP:0011315	Unicoronal synostosis	9839	ZEB2	ORPHA:261537
HP:0011315	Unicoronal synostosis	9839	ZEB2	ORPHA:261552
HP:0011315	Unicoronal synostosis	7291	TWIST1	OMIM:123100
HP:0005895	Radial deviation of thumb terminal phalanx	1387	CREBBP	OMIM:180849
HP:0005895	Radial deviation of thumb terminal phalanx	2033	EP300	OMIM:180849
HP:0005895	Radial deviation of thumb terminal phalanx	2735	GLI1	OMIM:174400
HP:0005892	Proximal tibial and fibular fusion	2737	GLI3	ORPHA:93322
HP:0005892	Proximal tibial and fibular fusion	5447	POR	ORPHA:95699
HP:0005890	Hyperostosis cranialis interna	23516	SLC39A14	OMIM:144755
HP:0005890	Hyperostosis cranialis interna	6916	TBXAS1	OMIM:231095
HP:0001100	Heterochromia iridis	3265	HRAS	ORPHA:79414
HP:0001100	Heterochromia iridis	4286	MITF	ORPHA:895
HP:0001100	Heterochromia iridis	4286	MITF	OMIM:193510
HP:0001100	Heterochromia iridis	4286	MITF	OMIM:103500
HP:0001100	Heterochromia iridis	7299	TYR	ORPHA:895
HP:0001100	Heterochromia iridis	6591	SNAI2	ORPHA:895
HP:0001100	Heterochromia iridis	6591	SNAI2	ORPHA:2884
HP:0001100	Heterochromia iridis	1910	EDNRB	ORPHA:895
HP:0001100	Heterochromia iridis	1910	EDNRB	OMIM:277580
HP:0001100	Heterochromia iridis	4254	KITLG	ORPHA:895
HP:0001100	Heterochromia iridis	4254	KITLG	OMIM:619947
HP:0001100	Heterochromia iridis	6663	SOX10	ORPHA:895
HP:0001100	Heterochromia iridis	6663	SOX10	ORPHA:163746
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:613266
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:611584
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:609136
HP:0001100	Heterochromia iridis	5077	PAX3	ORPHA:894
HP:0001100	Heterochromia iridis	5077	PAX3	OMIM:193500
HP:0001100	Heterochromia iridis	5077	PAX3	OMIM:148820
HP:0001100	Heterochromia iridis	80153	EDC3	OMIM:616460
HP:0001100	Heterochromia iridis	3815	KIT	OMIM:172800
HP:0001100	Heterochromia iridis	3815	KIT	ORPHA:2884
HP:0001100	Heterochromia iridis	8518	ELP1	ORPHA:1764
HP:0001100	Heterochromia iridis	71	ACTG1	ORPHA:2995
HP:0001100	Heterochromia iridis	60	ACTB	ORPHA:2995
HP:0001100	Heterochromia iridis	2776	GNAQ	ORPHA:3205
HP:0001100	Heterochromia iridis	1908	EDN3	OMIM:613265
HP:0001100	Heterochromia iridis	5728	PTEN	ORPHA:2969
HP:0001100	Heterochromia iridis	4157	MC1R	ORPHA:79432
HP:0001100	Heterochromia iridis	4948	OCA2	ORPHA:79432
HP:0001100	Heterochromia iridis	57167	SALL4	ORPHA:233
HP:0001100	Heterochromia iridis	9935	MAFB	ORPHA:233
HP:0001100	Heterochromia iridis	1123	CHN1	ORPHA:233
HP:0001100	Heterochromia iridis	10908	PNPLA6	OMIM:275400
HP:0001100	Heterochromia iridis	207	AKT1	ORPHA:744
HP:0001100	Heterochromia iridis	4010	LMX1B	ORPHA:2614
HP:0001100	Heterochromia iridis	4010	LMX1B	OMIM:161200
HP:0001101	Iritis	64127	NOD2	OMIM:186580
HP:0001102	Angioid streaks of the fundus	4982	TNFRSF11B	OMIM:239000
HP:0001102	Angioid streaks of the fundus	2591	GALNT3	OMIM:211900
HP:0001102	Angioid streaks of the fundus	5290	PIK3CA	OMIM:615108
HP:0001102	Angioid streaks of the fundus	207	AKT1	OMIM:615109
HP:0001102	Angioid streaks of the fundus	5728	PTEN	OMIM:158350
HP:0001102	Angioid streaks of the fundus	5167	ENPP1	ORPHA:758
HP:0001102	Angioid streaks of the fundus	5167	ENPP1	ORPHA:51608
HP:0001102	Angioid streaks of the fundus	368	ABCC6	ORPHA:758
HP:0001102	Angioid streaks of the fundus	368	ABCC6	OMIM:177850
HP:0001102	Angioid streaks of the fundus	368	ABCC6	OMIM:264800
HP:0001102	Angioid streaks of the fundus	368	ABCC6	ORPHA:51608
HP:0001102	Angioid streaks of the fundus	2677	GGCX	OMIM:610842
HP:0001102	Angioid streaks of the fundus	2677	GGCX	ORPHA:91135
HP:0001102	Angioid streaks of the fundus	64131	XYLT1	OMIM:264800
HP:0001102	Angioid streaks of the fundus	64132	XYLT2	OMIM:264800
HP:0001103	Abnormal macular morphology	3423	IDS	ORPHA:217085
HP:0001103	Abnormal macular morphology	3423	IDS	ORPHA:217093
HP:0001103	Abnormal macular morphology	735	C9	OMIM:615591
HP:0001103	Abnormal macular morphology	83394	PITPNM3	OMIM:600977
HP:0001103	Abnormal macular morphology	94137	RP1L1	OMIM:618826
HP:0001103	Abnormal macular morphology	5654	HTRA1	OMIM:610149
HP:0001103	Abnormal macular morphology	1471	CST3	OMIM:611953
HP:0001103	Abnormal macular morphology	130557	ZNF513	OMIM:613617
HP:0001103	Abnormal macular morphology	10516	FBLN5	OMIM:608895
HP:0001103	Abnormal macular morphology	10516	FBLN5	OMIM:619764
HP:0001103	Abnormal macular morphology	23503	ZFYVE26	OMIM:270700
HP:0001103	Abnormal macular morphology	49855	SCAPER	OMIM:618195
HP:0001103	Abnormal macular morphology	6011	GRK1	ORPHA:75382
HP:0001103	Abnormal macular morphology	6295	SAG	ORPHA:75382
HP:0001103	Abnormal macular morphology	368	ABCC6	OMIM:177850
HP:0001103	Abnormal macular morphology	368	ABCC6	OMIM:264800
HP:0001103	Abnormal macular morphology	64131	XYLT1	OMIM:264800
HP:0001103	Abnormal macular morphology	64132	XYLT2	OMIM:264800
HP:0001103	Abnormal macular morphology	123016	TTC8	OMIM:613464
HP:0001103	Abnormal macular morphology	1356	CP	ORPHA:48818
HP:0001103	Abnormal macular morphology	9128	PRPF4	OMIM:615922
HP:0001103	Abnormal macular morphology	768206	PRCD	OMIM:610599
HP:0001103	Abnormal macular morphology	2979	GUCA1B	OMIM:613827
HP:0001103	Abnormal macular morphology	6314	ATXN7	OMIM:164500
HP:0001103	Abnormal macular morphology	6314	ATXN7	ORPHA:94147
HP:0001103	Abnormal macular morphology	80208	SPG11	OMIM:604360
HP:0001103	Abnormal macular morphology	2192	FBLN1	ORPHA:404451
HP:0001103	Abnormal macular morphology	427	ASAH1	ORPHA:333
HP:0001103	Abnormal macular morphology	55129	ANO10	ORPHA:284289
HP:0001103	Abnormal macular morphology	64218	SEMA4A	OMIM:610283
HP:0001103	Abnormal macular morphology	5538	PPT1	OMIM:256730
HP:0001103	Abnormal macular morphology	57096	RPGRIP1	OMIM:608194
HP:0001103	Abnormal macular morphology	84131	CEP78	OMIM:617236
HP:0001103	Abnormal macular morphology	404672	GTF2H5	ORPHA:33364
HP:0001103	Abnormal macular morphology	833	CARS1	ORPHA:33364
HP:0001103	Abnormal macular morphology	2068	ERCC2	ORPHA:33364
HP:0001103	Abnormal macular morphology	7737	RNF113A	ORPHA:33364
HP:0001103	Abnormal macular morphology	136647	MPLKIP	ORPHA:33364
HP:0001103	Abnormal macular morphology	6897	TARS1	ORPHA:33364
HP:0001103	Abnormal macular morphology	2071	ERCC3	ORPHA:33364
HP:0001103	Abnormal macular morphology	2961	GTF2E2	ORPHA:33364
HP:0001103	Abnormal macular morphology	26146	TRAF3IP1	OMIM:616629
HP:0001103	Abnormal macular morphology	5076	PAX2	OMIM:120330
HP:0001103	Abnormal macular morphology	3980	LIG3	OMIM:619780
HP:0001103	Abnormal macular morphology	1201	CLN3	OMIM:204200
HP:0001103	Abnormal macular morphology	1001	CDH3	ORPHA:1573
HP:0001103	Abnormal macular morphology	80781	COL18A1	ORPHA:1571
HP:0001103	Abnormal macular morphology	5062	PAK2	ORPHA:1571
HP:0001103	Abnormal macular morphology	1258	CNGB1	OMIM:613767
HP:0001103	Abnormal macular morphology	2201	FBN2	OMIM:616118
HP:0001103	Abnormal macular morphology	6609	SMPD1	OMIM:607616
HP:0001103	Abnormal macular morphology	8813	DPM1	OMIM:608799
HP:0001103	Abnormal macular morphology	1908	EDN3	ORPHA:897
HP:0001103	Abnormal macular morphology	4286	MITF	ORPHA:897
HP:0001103	Abnormal macular morphology	1910	EDNRB	ORPHA:897
HP:0001103	Abnormal macular morphology	6663	SOX10	ORPHA:897
HP:0001103	Abnormal macular morphology	9382	COG1	ORPHA:263508
HP:0001103	Abnormal macular morphology	10682	EBP	OMIM:300960
HP:0001103	Abnormal macular morphology	1806	DPYD	ORPHA:1675
HP:0001103	Abnormal macular morphology	8777	MPDZ	OMIM:615219
HP:0001103	Abnormal macular morphology	4094	MAF	OMIM:610202
HP:0001103	Abnormal macular morphology	1130	LYST	OMIM:214500
HP:0001103	Abnormal macular morphology	220202	ATOH7	ORPHA:91495
HP:0001103	Abnormal macular morphology	3166	HMX1	OMIM:612109
HP:0001103	Abnormal macular morphology	3913	LAMB2	OMIM:609049
HP:0001103	Abnormal macular morphology	5631	PRPS1	ORPHA:423479
HP:0001103	Abnormal macular morphology	149461	CLDN19	ORPHA:2196
HP:0001103	Abnormal macular morphology	149461	CLDN19	OMIM:248190
HP:0001103	Abnormal macular morphology	55714	TENM3	OMIM:615145
HP:0001103	Abnormal macular morphology	23418	CRB1	OMIM:613835
HP:0001103	Abnormal macular morphology	57724	EPG5	OMIM:242840
HP:0001103	Abnormal macular morphology	26121	PRPF31	OMIM:600138
HP:0001103	Abnormal macular morphology	22999	RIMS1	OMIM:603649
HP:0001103	Abnormal macular morphology	84839	RAX2	OMIM:610381
HP:0001103	Abnormal macular morphology	9785	DHX38	OMIM:618220
HP:0001103	Abnormal macular morphology	7867	MAPKAPK3	OMIM:617111
HP:0001103	Abnormal macular morphology	128338	DRAM2	OMIM:616502
HP:0001103	Abnormal macular morphology	23568	ARL2BP	OMIM:615434
HP:0001103	Abnormal macular morphology	4901	NRL	OMIM:613750
HP:0001103	Abnormal macular morphology	8565	YARS1	OMIM:619418
HP:0001103	Abnormal macular morphology	54585	LZTFL1	OMIM:615994
HP:0001103	Abnormal macular morphology	57728	WDR19	OMIM:616307
HP:0001103	Abnormal macular morphology	9187	SLC24A1	OMIM:613830
HP:0001103	Abnormal macular morphology	26504	CNNM4	OMIM:217080
HP:0001103	Abnormal macular morphology	6533	SLC6A6	OMIM:145350
HP:0001103	Abnormal macular morphology	6247	RS1	OMIM:312700
HP:0001103	Abnormal macular morphology	6100	RP9	OMIM:180104
HP:0001103	Abnormal macular morphology	64802	NMNAT1	OMIM:608553
HP:0001103	Abnormal macular morphology	64802	NMNAT1	OMIM:619260
HP:0001103	Abnormal macular morphology	4990	SIX6	OMIM:212550
HP:0001103	Abnormal macular morphology	23746	AIPL1	OMIM:604393
HP:0001103	Abnormal macular morphology	10733	PLK4	OMIM:616171
HP:0001103	Abnormal macular morphology	6017	RLBP1	ORPHA:52427
HP:0001103	Abnormal macular morphology	6010	RHO	ORPHA:52427
HP:0001103	Abnormal macular morphology	5959	RDH5	ORPHA:52427
HP:0001103	Abnormal macular morphology	9742	IFT140	OMIM:617781
HP:0001103	Abnormal macular morphology	2629	GBA1	OMIM:230800
HP:0001103	Abnormal macular morphology	3098	HK1	OMIM:617460
HP:0001103	Abnormal macular morphology	5130	PCYT1A	ORPHA:85167
HP:0001103	Abnormal macular morphology	10461	MERTK	OMIM:613862
HP:0001103	Abnormal macular morphology	22926	ATF6	OMIM:616517
HP:0001103	Abnormal macular morphology	169522	KCNV2	OMIM:610356
HP:0001103	Abnormal macular morphology	63915	BLOC1S5	OMIM:619172
HP:0001103	Abnormal macular morphology	57479	PRR12	OMIM:619539
HP:0001103	Abnormal macular morphology	7299	TYR	OMIM:203100
HP:0001103	Abnormal macular morphology	7299	TYR	ORPHA:79431
HP:0001103	Abnormal macular morphology	7299	TYR	ORPHA:79434
HP:0001103	Abnormal macular morphology	4948	OCA2	OMIM:203200
HP:0001103	Abnormal macular morphology	4948	OCA2	ORPHA:79432
HP:0001103	Abnormal macular morphology	4157	MC1R	OMIM:203200
HP:0001103	Abnormal macular morphology	4157	MC1R	ORPHA:79432
HP:0001103	Abnormal macular morphology	7360	UGP2	OMIM:618744
HP:0001103	Abnormal macular morphology	92154	MTSS2	OMIM:620086
HP:0001103	Abnormal macular morphology	8943	AP3D1	ORPHA:54
HP:0001103	Abnormal macular morphology	4935	GPR143	ORPHA:54
HP:0001103	Abnormal macular morphology	4935	GPR143	OMIM:300500
HP:0001103	Abnormal macular morphology	89781	HPS4	OMIM:614073
HP:0001103	Abnormal macular morphology	11234	HPS5	OMIM:614074
HP:0001103	Abnormal macular morphology	388552	BLOC1S3	OMIM:614077
HP:0001103	Abnormal macular morphology	1638	DCT	OMIM:619165
HP:0001103	Abnormal macular morphology	9573	GDF3	OMIM:613703
HP:0001103	Abnormal macular morphology	392255	GDF6	OMIM:613703
HP:0001103	Abnormal macular morphology	8517	IKBKG	OMIM:308300
HP:0001103	Abnormal macular morphology	7490	WT1	OMIM:106210
HP:0001103	Abnormal macular morphology	60386	SLC25A19	OMIM:607196
HP:0001103	Abnormal macular morphology	51151	SLC45A2	ORPHA:79435
HP:0001103	Abnormal macular morphology	4758	NEU1	ORPHA:93400
HP:0001103	Abnormal macular morphology	4166	CHST6	OMIM:217800
HP:0001103	Abnormal macular morphology	5189	PEX1	OMIM:234580
HP:0001103	Abnormal macular morphology	93426	SYCE1	OMIM:616947
HP:0001103	Abnormal macular morphology	4567	MT-TL1	ORPHA:225
HP:0001103	Abnormal macular morphology	4556	MT-TE	ORPHA:225
HP:0001103	Abnormal macular morphology	4566	MT-TK	ORPHA:225
HP:0001103	Abnormal macular morphology	256471	MFSD8	OMIM:616170
HP:0001103	Abnormal macular morphology	50939	IMPG2	OMIM:616152
HP:0001103	Abnormal macular morphology	7439	BEST1	OMIM:153700
HP:0001103	Abnormal macular morphology	92002	CCNQ	ORPHA:140952
HP:0001103	Abnormal macular morphology	129880	BBS5	OMIM:615983
HP:0001103	Abnormal macular morphology	9227	LRAT	ORPHA:364055
HP:0001103	Abnormal macular morphology	55812	SPATA7	ORPHA:364055
HP:0001103	Abnormal macular morphology	167691	LCA5	ORPHA:364055
HP:0001103	Abnormal macular morphology	1121	CHM	OMIM:303100
HP:0001103	Abnormal macular morphology	103	ADAR	ORPHA:41
HP:0001103	Abnormal macular morphology	80173	IFT74	OMIM:617119
HP:0001103	Abnormal macular morphology	146167	SLC38A8	OMIM:609218
HP:0001103	Abnormal macular morphology	3617	IMPG1	OMIM:153870
HP:0001103	Abnormal macular morphology	1495	CTNNA1	OMIM:608970
HP:0001103	Abnormal macular morphology	25974	MMACHC	ORPHA:79282
HP:0001103	Abnormal macular morphology	343035	RD3	OMIM:610612
HP:0001103	Abnormal macular morphology	5956	OPN1LW	OMIM:303700
HP:0001103	Abnormal macular morphology	2652	OPN1MW	OMIM:303700
HP:0001103	Abnormal macular morphology	8842	PROM1	ORPHA:827
HP:0001103	Abnormal macular morphology	6785	ELOVL4	ORPHA:827
HP:0001103	Abnormal macular morphology	24	ABCA4	ORPHA:827
HP:0001103	Abnormal macular morphology	54714	CNGB3	ORPHA:827
HP:0001103	Abnormal macular morphology	283652	SLC24A5	ORPHA:370097
HP:0001103	Abnormal macular morphology	4644	MYO5A	ORPHA:33445
HP:0001103	Abnormal macular morphology	5080	PAX6	ORPHA:250923
HP:0001103	Abnormal macular morphology	2296	FOXC1	ORPHA:250923
HP:0001103	Abnormal macular morphology	54765	TRIM44	ORPHA:250923
HP:0001103	Abnormal macular morphology	4117	MAK	OMIM:614181
HP:0001103	Abnormal macular morphology	3035	HARS1	OMIM:614504
HP:0001103	Abnormal macular morphology	54499	TMCO1	OMIM:213980
HP:0001103	Abnormal macular morphology	6102	RP2	OMIM:312600
HP:0001103	Abnormal macular morphology	54675	CRLS1	OMIM:620167
HP:0001103	Abnormal macular morphology	3614	IMPDH1	OMIM:180105
HP:0001103	Abnormal macular morphology	157680	VPS13B	OMIM:216550
HP:0001103	Abnormal macular morphology	403	ARL3	OMIM:618173
HP:0001103	Abnormal macular morphology	10594	PRPF8	OMIM:600059
HP:0001103	Abnormal macular morphology	64127	NOD2	OMIM:186580
HP:0001103	Abnormal macular morphology	23370	ARHGEF18	OMIM:617433
HP:0001103	Abnormal macular morphology	55624	POMGNT1	OMIM:617123
HP:0001103	Abnormal macular morphology	92840	REEP6	OMIM:617304
HP:0001103	Abnormal macular morphology	285440	CYP4V2	ORPHA:41751
HP:0001103	Abnormal macular morphology	79947	DHDDS	OMIM:613861
HP:0001103	Abnormal macular morphology	3419	IDH3A	OMIM:619007
HP:0001103	Abnormal macular morphology	57670	KIAA1549	OMIM:618613
HP:0001103	Abnormal macular morphology	55975	KLHL7	OMIM:612943
HP:0001103	Abnormal macular morphology	1181	CLCN2	OMIM:615651
HP:0001103	Abnormal macular morphology	5167	ENPP1	ORPHA:51608
HP:0001103	Abnormal macular morphology	189	AGXT	OMIM:259900
HP:0001103	Abnormal macular morphology	7123	CLEC3B	OMIM:619977
HP:0001103	Abnormal macular morphology	1406	CRX	OMIM:120970
HP:0001103	Abnormal macular morphology	83552	MFRP	OMIM:611040
HP:0001103	Abnormal macular morphology	9364	RAB28	OMIM:615374
HP:0001103	Abnormal macular morphology	157657	CFAP418	OMIM:614500
HP:0001103	Abnormal macular morphology	4693	NDP	ORPHA:891
HP:0001103	Abnormal macular morphology	1499	CTNNB1	ORPHA:891
HP:0001103	Abnormal macular morphology	23554	TSPAN12	ORPHA:891
HP:0001103	Abnormal macular morphology	4041	LRP5	ORPHA:891
HP:0001103	Abnormal macular morphology	79797	ZNF408	ORPHA:891
HP:0001103	Abnormal macular morphology	8322	FZD4	ORPHA:891
HP:0001103	Abnormal macular morphology	4942	OAT	OMIM:258870
HP:0001103	Abnormal macular morphology	2202	EFEMP1	ORPHA:75376
HP:0001103	Abnormal macular morphology	3075	CFH	ORPHA:75376
HP:0001103	Abnormal macular morphology	3426	CFI	ORPHA:75376
HP:0001103	Abnormal macular morphology	348	APOE	OMIM:603075
HP:0001103	Abnormal macular morphology	83872	HMCN1	OMIM:603075
HP:0001103	Abnormal macular morphology	3078	CFHR1	OMIM:603075
HP:0001103	Abnormal macular morphology	10878	CFHR3	OMIM:603075
HP:0001103	Abnormal macular morphology	7078	TIMP3	ORPHA:59181
HP:0001103	Abnormal macular morphology	224	ALDH3A2	OMIM:270200
HP:0001103	Abnormal macular morphology	778	CACNA1F	OMIM:300476
HP:0001103	Abnormal macular morphology	5146	PDE6C	ORPHA:49382
HP:0001103	Abnormal macular morphology	5146	PDE6C	OMIM:613093
HP:0001103	Abnormal macular morphology	6103	RPGR	ORPHA:49382
HP:0001103	Abnormal macular morphology	5149	PDE6H	ORPHA:49382
HP:0001103	Abnormal macular morphology	2780	GNAT2	ORPHA:49382
HP:0001103	Abnormal macular morphology	1261	CNGA3	ORPHA:49382
HP:0001103	Abnormal macular morphology	1261	CNGA3	OMIM:216900
HP:0001103	Abnormal macular morphology	83723	TLCD3B	OMIM:619531
HP:0001103	Abnormal macular morphology	8481	OFD1	OMIM:300424
HP:0001103	Abnormal macular morphology	79803	HPS6	OMIM:614075
HP:0001103	Abnormal macular morphology	5148	PDE6G	OMIM:613582
HP:0001103	Abnormal macular morphology	6121	RPE65	OMIM:204100
HP:0001103	Abnormal macular morphology	5950	RBP4	OMIM:615147
HP:0001103	Abnormal macular morphology	5961	PRPH2	ORPHA:75377
HP:0001103	Abnormal macular morphology	3000	GUCY2D	ORPHA:75377
HP:0001103	Abnormal macular morphology	2978	GUCA1A	ORPHA:75377
HP:0001103	Abnormal macular morphology	7287	TULP1	OMIM:613843
HP:0001103	Abnormal macular morphology	7428	VHL	ORPHA:892
HP:0001103	Abnormal macular morphology	595	CCND1	ORPHA:892
HP:0001103	Abnormal macular morphology	10002	NR2E3	OMIM:268100
HP:0001103	Abnormal macular morphology	11277	TREX1	ORPHA:247691
HP:0001103	Abnormal macular morphology	11277	TREX1	OMIM:192315
HP:0001103	Abnormal macular morphology	3105	HLA-A	ORPHA:179
HP:0001103	Abnormal macular morphology	114902	C1QTNF5	ORPHA:67042
HP:0001103	Abnormal macular morphology	138050	HGSNAT	OMIM:616544
HP:0001103	Abnormal macular morphology	114548	NLRP3	OMIM:148200
HP:0001103	Abnormal macular morphology	324	APC	ORPHA:99818
HP:0001103	Abnormal macular morphology	4771	NF2	ORPHA:637
HP:0001103	Abnormal macular morphology	4771	NF2	OMIM:101000
HP:0001103	Abnormal macular morphology	51095	TRNT1	OMIM:616959
HP:0001103	Abnormal macular morphology	4982	TNFRSF11B	OMIM:239000
HP:0001103	Abnormal macular morphology	6452	SH3BP2	OMIM:118400
HP:0001104	Macular hypoplasia	80781	COL18A1	OMIM:267750
HP:0001104	Macular hypoplasia	57724	EPG5	OMIM:242840
HP:0001104	Macular hypoplasia	10682	EBP	OMIM:300960
HP:0001104	Macular hypoplasia	79803	HPS6	OMIM:614075
HP:0001104	Macular hypoplasia	1806	DPYD	ORPHA:1675
HP:0001104	Macular hypoplasia	5080	PAX6	ORPHA:2334
HP:0001104	Macular hypoplasia	8777	MPDZ	OMIM:615219
HP:0001104	Macular hypoplasia	4094	MAF	OMIM:610202
HP:0001104	Macular hypoplasia	1130	LYST	OMIM:214500
HP:0001104	Macular hypoplasia	51151	SLC45A2	OMIM:606574
HP:0001104	Macular hypoplasia	4693	NDP	ORPHA:91495
HP:0001104	Macular hypoplasia	220202	ATOH7	ORPHA:91495
HP:0001104	Macular hypoplasia	8322	FZD4	ORPHA:91495
HP:0001104	Macular hypoplasia	3166	HMX1	OMIM:612109
HP:0001104	Macular hypoplasia	3913	LAMB2	OMIM:609049
HP:0001105	Retinal atrophy	22901	ARSG	OMIM:618144
HP:0001105	Retinal atrophy	406987	MIR204	OMIM:616722
HP:0001105	Retinal atrophy	1161	ERCC8	ORPHA:90324
HP:0001105	Retinal atrophy	1161	ERCC8	OMIM:216400
HP:0001105	Retinal atrophy	2074	ERCC6	ORPHA:90324
HP:0001105	Retinal atrophy	10273	STUB1	ORPHA:412057
HP:0001105	Retinal atrophy	84131	CEP78	OMIM:617236
HP:0001105	Retinal atrophy	55624	POMGNT1	OMIM:253280
HP:0001105	Retinal atrophy	1509	CTSD	OMIM:610127
HP:0001105	Retinal atrophy	171023	ASXL1	ORPHA:97297
HP:0001105	Retinal atrophy	92840	REEP6	OMIM:617304
HP:0001105	Retinal atrophy	284217	LAMA1	OMIM:615960
HP:0001105	Retinal atrophy	284217	LAMA1	ORPHA:370022
HP:0001105	Retinal atrophy	57709	SLC7A14	OMIM:615725
HP:0001105	Retinal atrophy	56623	INPP5E	ORPHA:75858
HP:0001105	Retinal atrophy	760	CA2	ORPHA:2785
HP:0001105	Retinal atrophy	29954	POMT2	OMIM:236670
HP:0001105	Retinal atrophy	9215	LARGE1	OMIM:236670
HP:0001105	Retinal atrophy	79147	FKRP	OMIM:236670
HP:0001105	Retinal atrophy	10585	POMT1	OMIM:236670
HP:0001105	Retinal atrophy	2218	FKTN	OMIM:236670
HP:0001105	Retinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0001105	Retinal atrophy	3075	CFH	ORPHA:75376
HP:0001105	Retinal atrophy	3426	CFI	ORPHA:75376
HP:0001105	Retinal atrophy	6785	ELOVL4	OMIM:600110
HP:0001105	Retinal atrophy	57724	EPG5	OMIM:242840
HP:0001105	Retinal atrophy	26121	PRPF31	OMIM:600138
HP:0001105	Retinal atrophy	22999	RIMS1	OMIM:603649
HP:0001105	Retinal atrophy	84839	RAX2	OMIM:610381
HP:0001105	Retinal atrophy	9785	DHX38	OMIM:618220
HP:0001105	Retinal atrophy	7867	MAPKAPK3	OMIM:617111
HP:0001105	Retinal atrophy	128338	DRAM2	OMIM:616502
HP:0001105	Retinal atrophy	23568	ARL2BP	OMIM:615434
HP:0001105	Retinal atrophy	4901	NRL	OMIM:613750
HP:0001105	Retinal atrophy	8565	YARS1	OMIM:619418
HP:0001105	Retinal atrophy	157657	CFAP418	OMIM:614500
HP:0001105	Retinal atrophy	54585	LZTFL1	OMIM:615994
HP:0001105	Retinal atrophy	57728	WDR19	OMIM:616307
HP:0001105	Retinal atrophy	9187	SLC24A1	OMIM:613830
HP:0001105	Retinal atrophy	26504	CNNM4	OMIM:217080
HP:0001105	Retinal atrophy	6247	RS1	OMIM:312700
HP:0001105	Retinal atrophy	6100	RP9	OMIM:180104
HP:0001105	Retinal atrophy	2978	GUCA1A	OMIM:602093
HP:0001105	Retinal atrophy	2978	GUCA1A	ORPHA:75377
HP:0001105	Retinal atrophy	4990	SIX6	OMIM:212550
HP:0001105	Retinal atrophy	23746	AIPL1	OMIM:604393
HP:0001105	Retinal atrophy	10733	PLK4	OMIM:616171
HP:0001105	Retinal atrophy	3000	GUCY2D	OMIM:601777
HP:0001105	Retinal atrophy	3000	GUCY2D	ORPHA:75377
HP:0001105	Retinal atrophy	5961	PRPH2	ORPHA:52427
HP:0001105	Retinal atrophy	5961	PRPH2	OMIM:608161
HP:0001105	Retinal atrophy	5961	PRPH2	ORPHA:75377
HP:0001105	Retinal atrophy	6017	RLBP1	ORPHA:52427
HP:0001105	Retinal atrophy	6010	RHO	ORPHA:52427
HP:0001105	Retinal atrophy	5959	RDH5	ORPHA:52427
HP:0001105	Retinal atrophy	9742	IFT140	OMIM:617781
HP:0001105	Retinal atrophy	2629	GBA1	OMIM:230800
HP:0001105	Retinal atrophy	3098	HK1	OMIM:617460
HP:0001105	Retinal atrophy	5130	PCYT1A	ORPHA:85167
HP:0001105	Retinal atrophy	22926	ATF6	OMIM:616517
HP:0001105	Retinal atrophy	169522	KCNV2	OMIM:610356
HP:0001105	Retinal atrophy	7439	BEST1	OMIM:611809
HP:0001105	Retinal atrophy	10210	TOPORS	OMIM:609923
HP:0001105	Retinal atrophy	7840	ALMS1	ORPHA:64
HP:0001105	Retinal atrophy	5146	PDE6C	ORPHA:49382
HP:0001105	Retinal atrophy	6103	RPGR	ORPHA:49382
HP:0001105	Retinal atrophy	6103	RPGR	OMIM:304020
HP:0001105	Retinal atrophy	5149	PDE6H	ORPHA:49382
HP:0001105	Retinal atrophy	2780	GNAT2	ORPHA:49382
HP:0001105	Retinal atrophy	1261	CNGA3	ORPHA:49382
HP:0001105	Retinal atrophy	54714	CNGB3	ORPHA:49382
HP:0001105	Retinal atrophy	54714	CNGB3	ORPHA:827
HP:0001105	Retinal atrophy	83723	TLCD3B	OMIM:619531
HP:0001105	Retinal atrophy	112752	IFT43	OMIM:617871
HP:0001105	Retinal atrophy	7275	TUB	OMIM:616188
HP:0001105	Retinal atrophy	285440	CYP4V2	ORPHA:41751
HP:0001105	Retinal atrophy	8842	PROM1	OMIM:608051
HP:0001105	Retinal atrophy	8842	PROM1	ORPHA:827
HP:0001105	Retinal atrophy	24	ABCA4	ORPHA:827
HP:0001105	Retinal atrophy	24	ABCA4	OMIM:601718
HP:0001105	Retinal atrophy	1406	CRX	OMIM:120970
HP:0001105	Retinal atrophy	224	ALDH3A2	OMIM:270200
HP:0001105	Retinal atrophy	9227	LRAT	ORPHA:364055
HP:0001105	Retinal atrophy	55812	SPATA7	ORPHA:364055
HP:0001105	Retinal atrophy	6121	RPE65	ORPHA:364055
HP:0001105	Retinal atrophy	167691	LCA5	ORPHA:364055
HP:0001105	Retinal atrophy	8481	OFD1	OMIM:300424
HP:0001105	Retinal atrophy	50939	IMPG2	OMIM:613581
HP:0001105	Retinal atrophy	83552	MFRP	OMIM:611040
HP:0001105	Retinal atrophy	92211	CDHR1	OMIM:613660
HP:0001105	Retinal atrophy	24148	PRPF6	OMIM:613983
HP:0001105	Retinal atrophy	3419	IDH3A	OMIM:619007
HP:0001105	Retinal atrophy	7078	TIMP3	ORPHA:59181
HP:0001105	Retinal atrophy	57670	KIAA1549	OMIM:618613
HP:0001105	Retinal atrophy	23020	SNRNP200	OMIM:610359
HP:0001105	Retinal atrophy	51095	TRNT1	OMIM:616959
HP:0001105	Retinal atrophy	1462	VCAN	OMIM:143200
HP:0001105	Retinal atrophy	51109	RDH11	ORPHA:436245
HP:0001105	Retinal atrophy	79797	ZNF408	OMIM:616468
HP:0001105	Retinal atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001105	Retinal atrophy	64802	NMNAT1	OMIM:619260
HP:0001105	Retinal atrophy	138050	HGSNAT	OMIM:616544
HP:0001105	Retinal atrophy	3614	IMPDH1	OMIM:180105
HP:0001105	Retinal atrophy	348	APOE	OMIM:603075
HP:0001105	Retinal atrophy	83872	HMCN1	OMIM:603075
HP:0001105	Retinal atrophy	3078	CFHR1	OMIM:603075
HP:0001105	Retinal atrophy	10878	CFHR3	OMIM:603075
HP:0001105	Retinal atrophy	4982	TNFRSF11B	OMIM:239000
HP:0001105	Retinal atrophy	3105	HLA-A	ORPHA:179
HP:0001105	Retinal atrophy	6452	SH3BP2	OMIM:118400
HP:0001105	Retinal atrophy	10461	MERTK	OMIM:613862
HP:0001105	Retinal atrophy	5950	RBP4	OMIM:615147
HP:0001105	Retinal atrophy	6533	SLC6A6	OMIM:145350
HP:0001106	Periorbital hyperpigmentation	128178	EDARADD	OMIM:224900
HP:0001106	Periorbital hyperpigmentation	10913	EDAR	OMIM:224900
HP:0001106	Periorbital hyperpigmentation	1896	EDA	OMIM:305100
HP:0001106	Periorbital hyperpigmentation	56992	KIF15	ORPHA:261323
HP:0001107	Ocular albinism	63915	BLOC1S5	OMIM:619172
HP:0001107	Ocular albinism	57724	EPG5	OMIM:242840
HP:0001107	Ocular albinism	8943	AP3D1	OMIM:617050
HP:0001107	Ocular albinism	8943	AP3D1	ORPHA:1000
HP:0001107	Ocular albinism	8943	AP3D1	ORPHA:54
HP:0001107	Ocular albinism	7299	TYR	OMIM:203100
HP:0001107	Ocular albinism	7299	TYR	ORPHA:79431
HP:0001107	Ocular albinism	3257	HPS1	OMIM:203300
HP:0001107	Ocular albinism	5590	PRKCZ	ORPHA:1606
HP:0001107	Ocular albinism	2563	GABRD	ORPHA:1606
HP:0001107	Ocular albinism	23013	SPEN	ORPHA:1606
HP:0001107	Ocular albinism	8510	MMP23B	ORPHA:1606
HP:0001107	Ocular albinism	7798	LUZP1	ORPHA:1606
HP:0001107	Ocular albinism	6497	SKI	ORPHA:1606
HP:0001107	Ocular albinism	10630	PDPN	ORPHA:1606
HP:0001107	Ocular albinism	3339	HSPG2	ORPHA:1606
HP:0001107	Ocular albinism	10277	UBE4B	ORPHA:1606
HP:0001107	Ocular albinism	8514	KCNAB2	ORPHA:1606
HP:0001107	Ocular albinism	473	RERE	ORPHA:1606
HP:0001107	Ocular albinism	63976	PRDM16	ORPHA:1606
HP:0001107	Ocular albinism	54897	CASZ1	ORPHA:1606
HP:0001107	Ocular albinism	8546	AP3B1	OMIM:608233
HP:0001107	Ocular albinism	1130	LYST	ORPHA:352723
HP:0001107	Ocular albinism	1130	LYST	OMIM:214500
HP:0001107	Ocular albinism	4935	GPR143	ORPHA:54
HP:0001107	Ocular albinism	4935	GPR143	OMIM:300500
HP:0001107	Ocular albinism	89781	HPS4	OMIM:614073
HP:0001107	Ocular albinism	11234	HPS5	OMIM:614074
HP:0001107	Ocular albinism	26258	BLOC1S6	OMIM:614171
HP:0001107	Ocular albinism	388552	BLOC1S3	OMIM:614077
HP:0001107	Ocular albinism	79803	HPS6	OMIM:614075
HP:0001107	Ocular albinism	84062	DTNBP1	OMIM:614076
HP:0001107	Ocular albinism	6663	SOX10	OMIM:611584
HP:0001107	Ocular albinism	51151	SLC45A2	ORPHA:79435
HP:0000519	Developmental cataract	2074	ERCC6	OMIM:133540
HP:0000519	Developmental cataract	2074	ERCC6	ORPHA:90322
HP:0000519	Developmental cataract	9361	LONP1	OMIM:600373
HP:0000519	Developmental cataract	64374	SIL1	OMIM:248800
HP:0000519	Developmental cataract	1409	CRYAA	OMIM:604219
HP:0000519	Developmental cataract	27183	VPS4A	OMIM:619273
HP:0000519	Developmental cataract	406987	MIR204	OMIM:616722
HP:0000519	Developmental cataract	55654	TMEM127	OMIM:171300
HP:0000519	Developmental cataract	5979	RET	OMIM:171300
HP:0000519	Developmental cataract	6390	SDHB	OMIM:171300
HP:0000519	Developmental cataract	6392	SDHD	OMIM:171300
HP:0000519	Developmental cataract	4149	MAX	OMIM:171300
HP:0000519	Developmental cataract	7428	VHL	OMIM:171300
HP:0000519	Developmental cataract	5832	ALDH18A1	OMIM:616603
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:90348
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:447757
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:447753
HP:0000519	Developmental cataract	5309	PITX3	OMIM:610623
HP:0000519	Developmental cataract	4693	NDP	ORPHA:91495
HP:0000519	Developmental cataract	220202	ATOH7	ORPHA:91495
HP:0000519	Developmental cataract	8322	FZD4	ORPHA:91495
HP:0000519	Developmental cataract	2671	GFER	ORPHA:330054
HP:0000519	Developmental cataract	2671	GFER	OMIM:613076
HP:0000519	Developmental cataract	1417	CRYBB3	OMIM:609741
HP:0000519	Developmental cataract	1161	ERCC8	ORPHA:90322
HP:0000519	Developmental cataract	2067	ERCC1	ORPHA:90322
HP:0000519	Developmental cataract	10093	ARPC4	OMIM:620141
HP:0000519	Developmental cataract	1411	CRYBA1	OMIM:600881
HP:0000519	Developmental cataract	1421	CRYGD	OMIM:115700
HP:0000519	Developmental cataract	9150	CTDP1	OMIM:604168
HP:0000519	Developmental cataract	23094	SIPA1L3	OMIM:616851
HP:0000519	Developmental cataract	25782	RAB3GAP2	OMIM:212720
HP:0000519	Developmental cataract	25782	RAB3GAP2	OMIM:614225
HP:0000519	Developmental cataract	1287	COL4A5	OMIM:301050
HP:0000519	Developmental cataract	2068	ERCC2	OMIM:610756
HP:0000519	Developmental cataract	2068	ERCC2	ORPHA:33364
HP:0000519	Developmental cataract	3417	IDH1	ORPHA:99646
HP:0000519	Developmental cataract	87178	PNPT1	ORPHA:319514
HP:0000519	Developmental cataract	4512	MT-CO1	OMIM:540000
HP:0000519	Developmental cataract	4513	MT-CO2	OMIM:540000
HP:0000519	Developmental cataract	4514	MT-CO3	OMIM:540000
HP:0000519	Developmental cataract	4519	MT-CYB	OMIM:540000
HP:0000519	Developmental cataract	4511	MT-TC	OMIM:540000
HP:0000519	Developmental cataract	4574	MT-TS1	OMIM:540000
HP:0000519	Developmental cataract	4575	MT-TS2	OMIM:540000
HP:0000519	Developmental cataract	4558	MT-TF	OMIM:540000
HP:0000519	Developmental cataract	4541	MT-ND6	OMIM:540000
HP:0000519	Developmental cataract	4567	MT-TL1	OMIM:540000
HP:0000519	Developmental cataract	4540	MT-ND5	OMIM:540000
HP:0000519	Developmental cataract	4566	MT-TK	OMIM:540000
HP:0000519	Developmental cataract	4535	MT-ND1	OMIM:540000
HP:0000519	Developmental cataract	4572	MT-TQ	OMIM:540000
HP:0000519	Developmental cataract	4577	MT-TV	OMIM:540000
HP:0000519	Developmental cataract	4578	MT-TW	OMIM:540000
HP:0000519	Developmental cataract	4810	NHS	OMIM:302350
HP:0000519	Developmental cataract	57589	RIC1	OMIM:618761
HP:0000519	Developmental cataract	22930	RAB3GAP1	OMIM:600118
HP:0000519	Developmental cataract	22930	RAB3GAP1	OMIM:619420
HP:0000519	Developmental cataract	284058	KANSL1	ORPHA:363958
HP:0000519	Developmental cataract	284058	KANSL1	ORPHA:363965
HP:0000519	Developmental cataract	23511	NUP188	OMIM:618804
HP:0000519	Developmental cataract	81857	MED25	ORPHA:464738
HP:0000519	Developmental cataract	55699	IARS2	ORPHA:436174
HP:0000519	Developmental cataract	4047	LSS	OMIM:616509
HP:0000519	Developmental cataract	55750	AGK	OMIM:212350
HP:0000519	Developmental cataract	55750	AGK	OMIM:614691
HP:0000519	Developmental cataract	5191	PEX7	OMIM:215100
HP:0000519	Developmental cataract	20	ABCA2	OMIM:618808
HP:0000519	Developmental cataract	3339	HSPG2	ORPHA:1865
HP:0000519	Developmental cataract	1420	CRYGC	OMIM:604307
HP:0000519	Developmental cataract	857	CAV1	OMIM:606721
HP:0000519	Developmental cataract	7086	TKT	OMIM:617044
HP:0000519	Developmental cataract	22872	SEC31A	OMIM:618651
HP:0000519	Developmental cataract	128637	TBC1D20	OMIM:615663
HP:0000519	Developmental cataract	1410	CRYAB	OMIM:613763
HP:0000519	Developmental cataract	55210	ATAD3A	OMIM:618810
HP:0000519	Developmental cataract	55210	ATAD3A	OMIM:617183
HP:0000519	Developmental cataract	84668	HYCC1	OMIM:610532
HP:0000519	Developmental cataract	84668	HYCC1	ORPHA:85163
HP:0000519	Developmental cataract	26227	PHGDH	ORPHA:79351
HP:0000519	Developmental cataract	26227	PHGDH	OMIM:601815
HP:0000519	Developmental cataract	4000	LMNA	ORPHA:79474
HP:0000519	Developmental cataract	57572	DOCK6	OMIM:614219
HP:0000519	Developmental cataract	4758	NEU1	ORPHA:93400
HP:0000519	Developmental cataract	1798	DPAGT1	ORPHA:86309
HP:0000519	Developmental cataract	1415	CRYBB2	OMIM:601547
HP:0000519	Developmental cataract	1969	EPHA2	OMIM:116600
HP:0000519	Developmental cataract	5702	PSMC3	OMIM:619354
HP:0000519	Developmental cataract	22931	RAB18	OMIM:614222
HP:0000519	Developmental cataract	9401	RECQL4	ORPHA:221016
HP:0000519	Developmental cataract	389692	MAFA	OMIM:147630
HP:0000519	Developmental cataract	9894	TELO2	ORPHA:488642
HP:0000519	Developmental cataract	8419	BFSP2	OMIM:611597
HP:0000519	Developmental cataract	1282	COL4A1	OMIM:175780
HP:0000519	Developmental cataract	4952	OCRL	OMIM:309000
HP:0000519	Developmental cataract	84992	PIGY	OMIM:616809
HP:0000519	Developmental cataract	23137	SMC5	OMIM:620185
HP:0000519	Developmental cataract	80781	COL18A1	OMIM:267750
HP:0000519	Developmental cataract	1412	CRYBA2	OMIM:115900
HP:0000519	Developmental cataract	284252	KCTD1	OMIM:181270
HP:0000519	Developmental cataract	54880	BCOR	OMIM:300166
HP:0000519	Developmental cataract	79813	EHMT1	ORPHA:261652
HP:0000519	Developmental cataract	58508	KMT2C	ORPHA:261652
HP:0000519	Developmental cataract	4094	MAF	ORPHA:1272
HP:0000519	Developmental cataract	4094	MAF	OMIM:601088
HP:0000519	Developmental cataract	953	ENTPD1	OMIM:615683
HP:0000519	Developmental cataract	57724	EPG5	OMIM:242840
HP:0000519	Developmental cataract	2651	GCNT2	OMIM:116700
HP:0000519	Developmental cataract	3739	KCNA4	OMIM:618284
HP:0000519	Developmental cataract	9197	SLC33A1	OMIM:614482
HP:0000519	Developmental cataract	9215	LARGE1	OMIM:613154
HP:0000519	Developmental cataract	5286	PIK3C2A	OMIM:618440
HP:0000519	Developmental cataract	5286	PIK3C2A	ORPHA:557003
HP:0000519	Developmental cataract	10585	POMT1	OMIM:613155
HP:0000519	Developmental cataract	2006	ELN	ORPHA:90348
HP:0000519	Developmental cataract	10516	FBLN5	ORPHA:90348
HP:0000519	Developmental cataract	8799	PEX11B	OMIM:614920
HP:0000519	Developmental cataract	63901	FAM111A	OMIM:127000
HP:0000519	Developmental cataract	63901	FAM111A	ORPHA:93325
HP:0000519	Developmental cataract	404672	GTF2H5	ORPHA:33364
HP:0000519	Developmental cataract	404672	GTF2H5	OMIM:616395
HP:0000519	Developmental cataract	833	CARS1	ORPHA:33364
HP:0000519	Developmental cataract	7737	RNF113A	ORPHA:33364
HP:0000519	Developmental cataract	136647	MPLKIP	ORPHA:33364
HP:0000519	Developmental cataract	6897	TARS1	ORPHA:33364
HP:0000519	Developmental cataract	2071	ERCC3	ORPHA:33364
HP:0000519	Developmental cataract	2961	GTF2E2	ORPHA:33364
HP:0000519	Developmental cataract	3166	HMX1	OMIM:612109
HP:0000519	Developmental cataract	84188	FAR1	ORPHA:447753
HP:0000519	Developmental cataract	5080	PAX6	OMIM:604229
HP:0000519	Developmental cataract	6135	RPL11	ORPHA:124
HP:0000519	Developmental cataract	6138	RPL15	ORPHA:124
HP:0000519	Developmental cataract	6229	RPS24	ORPHA:124
HP:0000519	Developmental cataract	6125	RPL5	ORPHA:124
HP:0000519	Developmental cataract	6204	RPS10	ORPHA:124
HP:0000519	Developmental cataract	6224	RPS20	ORPHA:124
HP:0000519	Developmental cataract	6165	RPL35A	ORPHA:124
HP:0000519	Developmental cataract	2623	GATA1	ORPHA:124
HP:0000519	Developmental cataract	6223	RPS19	ORPHA:124
HP:0000519	Developmental cataract	6232	RPS27	ORPHA:124
HP:0000519	Developmental cataract	6231	RPS26	ORPHA:124
HP:0000519	Developmental cataract	11224	RPL35	ORPHA:124
HP:0000519	Developmental cataract	6160	RPL31	ORPHA:124
HP:0000519	Developmental cataract	6218	RPS17	ORPHA:124
HP:0000519	Developmental cataract	6201	RPS7	ORPHA:124
HP:0000519	Developmental cataract	6155	RPL27	ORPHA:124
HP:0000519	Developmental cataract	6154	RPL26	ORPHA:124
HP:0000519	Developmental cataract	6210	RPS15A	ORPHA:124
HP:0000519	Developmental cataract	90121	TSR2	ORPHA:124
HP:0000519	Developmental cataract	6141	RPL18	ORPHA:124
HP:0000519	Developmental cataract	6235	RPS29	ORPHA:124
HP:0000519	Developmental cataract	6234	RPS28	ORPHA:124
HP:0000519	Developmental cataract	51816	ADA2	ORPHA:124
HP:0000519	Developmental cataract	1419	CRYGB	OMIM:615188
HP:0000519	Developmental cataract	7319	UBE2A	ORPHA:163956
HP:0000519	Developmental cataract	6307	MSMO1	OMIM:616834
HP:0000519	Developmental cataract	7439	BEST1	OMIM:193220
HP:0000519	Developmental cataract	1414	CRYBB1	OMIM:611544
HP:0000519	Developmental cataract	5830	PEX5	OMIM:616716
HP:0000519	Developmental cataract	2108	ETFA	OMIM:231680
HP:0000519	Developmental cataract	2109	ETFB	OMIM:231680
HP:0000519	Developmental cataract	2110	ETFDH	OMIM:231680
HP:0000519	Developmental cataract	64682	ANAPC1	ORPHA:221008
HP:0100854	Aplasia of the musculature	1146	CHRNG	OMIM:253290
HP:0100854	Aplasia of the musculature	1144	CHRND	OMIM:253290
HP:0100854	Aplasia of the musculature	1134	CHRNA1	OMIM:253290
HP:0100854	Aplasia of the musculature	59341	TRPV4	OMIM:181405
HP:0100854	Aplasia of the musculature	6910	TBX5	OMIM:142900
HP:0100854	Aplasia of the musculature	5980	REV3L	ORPHA:570
HP:0100854	Aplasia of the musculature	23129	PLXND1	ORPHA:570
HP:0100854	Aplasia of the musculature	6926	TBX3	ORPHA:3138
HP:0100854	Aplasia of the musculature	389827	MYMK	ORPHA:1358
HP:0100854	Aplasia of the musculature	101929726	MYMX	ORPHA:1358
HP:0100854	Aplasia of the musculature	4010	LMX1B	OMIM:161200
HP:0100851	Abnormal emotion/affect behavior	8518	ELP1	OMIM:223900
HP:0100851	Abnormal emotion/affect behavior	23111	SPART	OMIM:275900
HP:0100851	Abnormal emotion/affect behavior	23111	SPART	ORPHA:101000
HP:0100851	Abnormal emotion/affect behavior	2767	GNA11	ORPHA:428
HP:0100851	Abnormal emotion/affect behavior	846	CASR	ORPHA:428
HP:0100851	Abnormal emotion/affect behavior	5428	POLG	OMIM:258450
HP:0100851	Abnormal emotion/affect behavior	5428	POLG	OMIM:607459
HP:0100851	Abnormal emotion/affect behavior	8722	CTSF	OMIM:615362
HP:0100851	Abnormal emotion/affect behavior	23043	TNIK	OMIM:617028
HP:0100851	Abnormal emotion/affect behavior	50940	PDE11A	OMIM:610475
HP:0100851	Abnormal emotion/affect behavior	50940	PDE11A	ORPHA:189439
HP:0100851	Abnormal emotion/affect behavior	410	ARSA	ORPHA:309271
HP:0100851	Abnormal emotion/affect behavior	410	ARSA	ORPHA:309263
HP:0100851	Abnormal emotion/affect behavior	410	ARSA	ORPHA:309256
HP:0100851	Abnormal emotion/affect behavior	410	ARSA	OMIM:250100
HP:0100851	Abnormal emotion/affect behavior	1757	SARDH	ORPHA:3129
HP:0100851	Abnormal emotion/affect behavior	340024	SLC6A19	OMIM:234500
HP:0100851	Abnormal emotion/affect behavior	340024	SLC6A19	ORPHA:2116
HP:0100851	Abnormal emotion/affect behavior	10381	TUBB3	ORPHA:300570
HP:0100851	Abnormal emotion/affect behavior	10015	PDCD6IP	OMIM:620047
HP:0100851	Abnormal emotion/affect behavior	55149	MTPAP	ORPHA:254343
HP:0100851	Abnormal emotion/affect behavior	55149	MTPAP	OMIM:613672
HP:0100851	Abnormal emotion/affect behavior	83636	C19orf12	OMIM:614298
HP:0100851	Abnormal emotion/affect behavior	80208	SPG11	ORPHA:2822
HP:0100851	Abnormal emotion/affect behavior	4914	NTRK1	OMIM:256800
HP:0100851	Abnormal emotion/affect behavior	9049	AIP	OMIM:219090
HP:0100851	Abnormal emotion/affect behavior	2512	FTL	OMIM:606159
HP:0100851	Abnormal emotion/affect behavior	2512	FTL	ORPHA:157846
HP:0100851	Abnormal emotion/affect behavior	7809	BSND	ORPHA:89938
HP:0100851	Abnormal emotion/affect behavior	1188	CLCNKB	ORPHA:89938
HP:0100851	Abnormal emotion/affect behavior	1187	CLCNKA	ORPHA:89938
HP:0100851	Abnormal emotion/affect behavior	5566	PRKACA	OMIM:615830
HP:0100851	Abnormal emotion/affect behavior	5566	PRKACA	ORPHA:189439
HP:0100851	Abnormal emotion/affect behavior	8622	PDE8B	ORPHA:189439
HP:0100851	Abnormal emotion/affect behavior	8314	BAP1	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	4771	NF2	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	5155	PDGFB	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	84231	TRAF7	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	6608	SMO	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	207	AKT1	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	51684	SUFU	ORPHA:2495
HP:0100851	Abnormal emotion/affect behavior	378884	NHLRC1	ORPHA:501
HP:0100851	Abnormal emotion/affect behavior	7957	EPM2A	ORPHA:501
HP:0100851	Abnormal emotion/affect behavior	23503	ZFYVE26	OMIM:270700
HP:0100851	Abnormal emotion/affect behavior	81887	LAS1L	ORPHA:3459
HP:0100851	Abnormal emotion/affect behavior	81887	LAS1L	OMIM:309585
HP:0100851	Abnormal emotion/affect behavior	79798	ARMC5	ORPHA:189427
HP:0100851	Abnormal emotion/affect behavior	617	BCS1L	OMIM:124000
HP:0100851	Abnormal emotion/affect behavior	407975	MIR17HG	ORPHA:391646
HP:0100851	Abnormal emotion/affect behavior	91942	NDUFAF2	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	6834	SURF1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4723	NDUFV1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4729	NDUFV2	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	55967	NDUFA12	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	51204	TACO1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4720	NDUFS2	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4724	NDUFS4	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4728	NDUFS8	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	137682	NDUFAF6	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4722	NDUFS3	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	79133	NDUFAF5	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	5160	PDHA1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	100131801	PET100	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	1355	COX15	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	1892	ECHS1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	123263	MTFMT	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	51079	NDUFA13	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	374291	NDUFS7	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4705	NDUFA10	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	51601	LIPT1	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4697	NDUFA4	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	4704	NDUFA9	ORPHA:255241
HP:0100851	Abnormal emotion/affect behavior	23162	MAPK8IP3	OMIM:618443
HP:0100851	Abnormal emotion/affect behavior	54941	RNF125	OMIM:616260
HP:0100851	Abnormal emotion/affect behavior	5230	PGK1	OMIM:300653
HP:0100851	Abnormal emotion/affect behavior	57393	CLTRN	ORPHA:2116
HP:0100851	Abnormal emotion/affect behavior	727676	SNORD118	ORPHA:542310
HP:0100851	Abnormal emotion/affect behavior	23435	TARDBP	OMIM:612069
HP:0100851	Abnormal emotion/affect behavior	23435	TARDBP	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	3178	HNRNPA1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	8148	TAF15	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	5445	PON2	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	9217	VAPB	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	5630	PRPH	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	29110	TBK1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	55830	GLT8D1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	755	CFAP410	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	10891	PPARGC1A	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	6647	SOD1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	10133	OPTN	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	5444	PON1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	5446	PON3	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	4744	NEFH	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	5216	PFN1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	9782	MATR3	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	283	ANG	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	29978	UBQLN2	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	2733	GLE1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	2521	FUS	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	4750	NEK1	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	2043	EPHA4	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	6311	ATXN2	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	1610	DAO	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	2066	ERBB4	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	311	ANXA11	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	23025	UNC13A	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	899	CCNF	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	400916	CHCHD10	ORPHA:803
HP:0100851	Abnormal emotion/affect behavior	27286	SRPX2	ORPHA:1945
HP:0100851	Abnormal emotion/affect behavior	2566	GABRG2	ORPHA:1945
HP:0100851	Abnormal emotion/affect behavior	1967	EIF2B1	OMIM:603896
HP:0100851	Abnormal emotion/affect behavior	56652	TWNK	OMIM:607459
HP:0100851	Abnormal emotion/affect behavior	80199	FUZ	ORPHA:1136
HP:0100851	Abnormal emotion/affect behavior	2583	B4GALNT1	OMIM:609195
HP:0100851	Abnormal emotion/affect behavior	165918	RNF168	ORPHA:420741
HP:0100851	Abnormal emotion/affect behavior	5133	PDCD1	OMIM:126200
HP:0100851	Abnormal emotion/affect behavior	3123	HLA-DRB1	OMIM:126200
HP:0100851	Abnormal emotion/affect behavior	10682	EBP	ORPHA:401973
HP:0100851	Abnormal emotion/affect behavior	5138	PDE2A	OMIM:619150
HP:0100851	Abnormal emotion/affect behavior	199857	ALG14	OMIM:619031
HP:0100851	Abnormal emotion/affect behavior	8450	CUL4B	OMIM:300354
HP:0100851	Abnormal emotion/affect behavior	8450	CUL4B	ORPHA:85293
HP:0100851	Abnormal emotion/affect behavior	6535	SLC6A8	OMIM:300352
HP:0100851	Abnormal emotion/affect behavior	26960	NBEA	OMIM:619157
HP:0100851	Abnormal emotion/affect behavior	1183	CLCN4	OMIM:300114
HP:0100851	Abnormal emotion/affect behavior	1183	CLCN4	ORPHA:485350
HP:0100851	Abnormal emotion/affect behavior	9853	RUSC2	OMIM:617773
HP:0100851	Abnormal emotion/affect behavior	2972	BRF1	OMIM:616202
HP:0100851	Abnormal emotion/affect behavior	7109	TRAPPC10	OMIM:620027
HP:0100851	Abnormal emotion/affect behavior	3703	STT3A	OMIM:619714
HP:0100851	Abnormal emotion/affect behavior	1788	DNMT3A	ORPHA:404443
HP:0100851	Abnormal emotion/affect behavior	1119	CHKA	OMIM:620023
HP:0100851	Abnormal emotion/affect behavior	5457	POU4F1	ORPHA:314647
HP:0100851	Abnormal emotion/affect behavior	23261	CAMTA1	ORPHA:314647
HP:0100851	Abnormal emotion/affect behavior	23261	CAMTA1	OMIM:614756
HP:0100851	Abnormal emotion/affect behavior	79581	SLC52A2	OMIM:614707
HP:0100851	Abnormal emotion/affect behavior	64324	NSD1	ORPHA:821
HP:0100851	Abnormal emotion/affect behavior	64324	NSD1	OMIM:117550
HP:0100851	Abnormal emotion/affect behavior	29072	SETD2	ORPHA:821
HP:0100851	Abnormal emotion/affect behavior	29072	SETD2	OMIM:616831
HP:0100851	Abnormal emotion/affect behavior	10297	APC2	ORPHA:821
HP:0100851	Abnormal emotion/affect behavior	10093	ARPC4	OMIM:620141
HP:0100851	Abnormal emotion/affect behavior	2593	GAMT	ORPHA:382
HP:0100851	Abnormal emotion/affect behavior	2593	GAMT	OMIM:612736
HP:0100851	Abnormal emotion/affect behavior	116931	MED12L	OMIM:618872
HP:0100851	Abnormal emotion/affect behavior	9578	CDC42BPB	OMIM:619841
HP:0100851	Abnormal emotion/affect behavior	51111	KMT5B	OMIM:617788
HP:0100851	Abnormal emotion/affect behavior	8239	USP9X	OMIM:300919
HP:0100851	Abnormal emotion/affect behavior	55690	PACS1	OMIM:615009
HP:0100851	Abnormal emotion/affect behavior	55904	KMT2E	OMIM:618512
HP:0100851	Abnormal emotion/affect behavior	56623	INPP5E	ORPHA:75858
HP:0100851	Abnormal emotion/affect behavior	56623	INPP5E	OMIM:213300
HP:0100851	Abnormal emotion/affect behavior	10847	SRCAP	ORPHA:2044
HP:0100851	Abnormal emotion/affect behavior	10847	SRCAP	OMIM:136140
HP:0100851	Abnormal emotion/affect behavior	5689	PSMB1	OMIM:620038
HP:0100851	Abnormal emotion/affect behavior	57082	KNL1	OMIM:604321
HP:0100851	Abnormal emotion/affect behavior	284403	WDR62	OMIM:604317
HP:0100851	Abnormal emotion/affect behavior	6660	SOX5	ORPHA:313892
HP:0100851	Abnormal emotion/affect behavior	64601	VPS16	OMIM:619291
HP:0100851	Abnormal emotion/affect behavior	288	ANK3	OMIM:615493
HP:0100851	Abnormal emotion/affect behavior	288	ANK3	ORPHA:356996
HP:0100851	Abnormal emotion/affect behavior	2892	GRIA3	OMIM:300699
HP:0100851	Abnormal emotion/affect behavior	2892	GRIA3	ORPHA:364028
HP:0100851	Abnormal emotion/affect behavior	10134	BCAP31	ORPHA:369939
HP:0100851	Abnormal emotion/affect behavior	57492	ARID1B	OMIM:135900
HP:0100851	Abnormal emotion/affect behavior	57492	ARID1B	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	9739	SETD1A	OMIM:619056
HP:0100851	Abnormal emotion/affect behavior	10352	WARS2	OMIM:619738
HP:0100851	Abnormal emotion/affect behavior	10352	WARS2	ORPHA:572798
HP:0100851	Abnormal emotion/affect behavior	10352	WARS2	OMIM:617710
HP:0100851	Abnormal emotion/affect behavior	81857	MED25	ORPHA:464738
HP:0100851	Abnormal emotion/affect behavior	3953	LEPR	OMIM:614963
HP:0100851	Abnormal emotion/affect behavior	23732	FRRS1L	ORPHA:725
HP:0100851	Abnormal emotion/affect behavior	2903	GRIN2A	ORPHA:725
HP:0100851	Abnormal emotion/affect behavior	2903	GRIN2A	ORPHA:98818
HP:0100851	Abnormal emotion/affect behavior	83480	PUS3	ORPHA:488627
HP:0100851	Abnormal emotion/affect behavior	1717	DHCR7	OMIM:270400
HP:0100851	Abnormal emotion/affect behavior	2562	GABRB3	ORPHA:2382
HP:0100851	Abnormal emotion/affect behavior	5602	MAPK10	ORPHA:2382
HP:0100851	Abnormal emotion/affect behavior	6323	SCN1A	ORPHA:2382
HP:0100851	Abnormal emotion/affect behavior	23316	CUX2	ORPHA:2382
HP:0100851	Abnormal emotion/affect behavior	1106	CHD2	ORPHA:2382
HP:0100851	Abnormal emotion/affect behavior	4297	KMT2A	ORPHA:319182
HP:0100851	Abnormal emotion/affect behavior	4297	KMT2A	OMIM:605130
HP:0100851	Abnormal emotion/affect behavior	3612	IMPA1	OMIM:617323
HP:0100851	Abnormal emotion/affect behavior	6999	TDO2	OMIM:600627
HP:0100851	Abnormal emotion/affect behavior	57178	ZMIZ1	OMIM:618659
HP:0100851	Abnormal emotion/affect behavior	22995	CEP152	OMIM:614852
HP:0100851	Abnormal emotion/affect behavior	3340	NDST1	OMIM:616116
HP:0100851	Abnormal emotion/affect behavior	79583	TMEM231	OMIM:614970
HP:0100851	Abnormal emotion/affect behavior	84300	UQCC2	OMIM:615824
HP:0100851	Abnormal emotion/affect behavior	25942	SIN3A	OMIM:613406
HP:0100851	Abnormal emotion/affect behavior	10522	DEAF1	OMIM:615828
HP:0100851	Abnormal emotion/affect behavior	10522	DEAF1	OMIM:617171
HP:0100851	Abnormal emotion/affect behavior	10522	DEAF1	ORPHA:468620
HP:0100851	Abnormal emotion/affect behavior	4247	MGAT2	OMIM:212066
HP:0100851	Abnormal emotion/affect behavior	6908	TBP	OMIM:607136
HP:0100851	Abnormal emotion/affect behavior	7915	ALDH5A1	OMIM:271980
HP:0100851	Abnormal emotion/affect behavior	4953	ODC1	OMIM:619075
HP:0100851	Abnormal emotion/affect behavior	4953	ODC1	ORPHA:544488
HP:0100851	Abnormal emotion/affect behavior	26038	CHD5	OMIM:619873
HP:0100851	Abnormal emotion/affect behavior	54880	BCOR	OMIM:309800
HP:0100851	Abnormal emotion/affect behavior	29081	METTL5	OMIM:618665
HP:0100851	Abnormal emotion/affect behavior	388662	SLC6A17	ORPHA:457212
HP:0100851	Abnormal emotion/affect behavior	388662	SLC6A17	OMIM:616269
HP:0100851	Abnormal emotion/affect behavior	3028	HSD17B10	OMIM:300438
HP:0100851	Abnormal emotion/affect behavior	5063	PAK3	OMIM:300558
HP:0100851	Abnormal emotion/affect behavior	8905	AP1S2	ORPHA:85335
HP:0100851	Abnormal emotion/affect behavior	8905	AP1S2	ORPHA:85329
HP:0100851	Abnormal emotion/affect behavior	8905	AP1S2	OMIM:304340
HP:0100851	Abnormal emotion/affect behavior	9354	UBE4A	OMIM:619639
HP:0100851	Abnormal emotion/affect behavior	54902	TTC19	OMIM:615157
HP:0100851	Abnormal emotion/affect behavior	92609	TIMM50	OMIM:617698
HP:0100851	Abnormal emotion/affect behavior	92609	TIMM50	ORPHA:505216
HP:0100851	Abnormal emotion/affect behavior	540	ATP7B	ORPHA:905
HP:0100851	Abnormal emotion/affect behavior	6507	SLC1A3	ORPHA:2131
HP:0100851	Abnormal emotion/affect behavior	477	ATP1A2	ORPHA:2131
HP:0100851	Abnormal emotion/affect behavior	478	ATP1A3	ORPHA:2131
HP:0100851	Abnormal emotion/affect behavior	8659	ALDH4A1	ORPHA:79101
HP:0100851	Abnormal emotion/affect behavior	4952	OCRL	OMIM:309000
HP:0100851	Abnormal emotion/affect behavior	2259	FGF14	ORPHA:98764
HP:0100851	Abnormal emotion/affect behavior	84992	PIGY	OMIM:616809
HP:0100851	Abnormal emotion/affect behavior	25814	ATXN10	ORPHA:98761
HP:0100851	Abnormal emotion/affect behavior	283209	PGM2L1	OMIM:620191
HP:0100851	Abnormal emotion/affect behavior	26137	ZBTB20	OMIM:259050
HP:0100851	Abnormal emotion/affect behavior	5594	MAPK1	OMIM:619087
HP:0100851	Abnormal emotion/affect behavior	25970	SH2B1	ORPHA:329249
HP:0100851	Abnormal emotion/affect behavior	113179	ADAT3	OMIM:615286
HP:0100851	Abnormal emotion/affect behavior	113179	ADAT3	ORPHA:363528
HP:0100851	Abnormal emotion/affect behavior	6942	TCF20	OMIM:618430
HP:0100851	Abnormal emotion/affect behavior	23400	ATP13A2	OMIM:617225
HP:0100851	Abnormal emotion/affect behavior	23400	ATP13A2	OMIM:606693
HP:0100851	Abnormal emotion/affect behavior	9993	DGCR2	OMIM:192430
HP:0100851	Abnormal emotion/affect behavior	8220	ESS2	OMIM:192430
HP:0100851	Abnormal emotion/affect behavior	8214	DGCR6	OMIM:192430
HP:0100851	Abnormal emotion/affect behavior	54487	DGCR8	OMIM:192430
HP:0100851	Abnormal emotion/affect behavior	6899	TBX1	OMIM:192430
HP:0100851	Abnormal emotion/affect behavior	10430	TMEM147	OMIM:620075
HP:0100851	Abnormal emotion/affect behavior	51322	WAC	ORPHA:284169
HP:0100851	Abnormal emotion/affect behavior	51322	WAC	OMIM:616708
HP:0100851	Abnormal emotion/affect behavior	51322	WAC	ORPHA:466950
HP:0100851	Abnormal emotion/affect behavior	11152	WDR45	OMIM:300894
HP:0100851	Abnormal emotion/affect behavior	11152	WDR45	ORPHA:329284
HP:0100851	Abnormal emotion/affect behavior	7030	TFE3	OMIM:301066
HP:0100851	Abnormal emotion/affect behavior	8242	KDM5C	OMIM:300534
HP:0100851	Abnormal emotion/affect behavior	8242	KDM5C	ORPHA:85279
HP:0100851	Abnormal emotion/affect behavior	9922	IQSEC1	OMIM:618687
HP:0100851	Abnormal emotion/affect behavior	27086	FOXP1	OMIM:613670
HP:0100851	Abnormal emotion/affect behavior	26047	CNTNAP2	OMIM:610042
HP:0100851	Abnormal emotion/affect behavior	26047	CNTNAP2	ORPHA:163681
HP:0100851	Abnormal emotion/affect behavior	3458	IFNG	ORPHA:805
HP:0100851	Abnormal emotion/affect behavior	7248	TSC1	ORPHA:805
HP:0100851	Abnormal emotion/affect behavior	7249	TSC2	ORPHA:805
HP:0100851	Abnormal emotion/affect behavior	6683	SPAST	OMIM:182601
HP:0100851	Abnormal emotion/affect behavior	6595	SMARCA2	OMIM:601358
HP:0100851	Abnormal emotion/affect behavior	1917	EEF1A2	OMIM:616393
HP:0100851	Abnormal emotion/affect behavior	1917	EEF1A2	OMIM:616409
HP:0100851	Abnormal emotion/affect behavior	7319	UBE2A	ORPHA:163956
HP:0100851	Abnormal emotion/affect behavior	7319	UBE2A	OMIM:300860
HP:0100851	Abnormal emotion/affect behavior	164	AP1G1	OMIM:619548
HP:0100851	Abnormal emotion/affect behavior	164	AP1G1	OMIM:619467
HP:0100851	Abnormal emotion/affect behavior	339453	TMEM240	OMIM:607454
HP:0100851	Abnormal emotion/affect behavior	3720	JARID2	OMIM:620098
HP:0100851	Abnormal emotion/affect behavior	1203	CLN5	ORPHA:228360
HP:0100851	Abnormal emotion/affect behavior	57526	PCDH19	ORPHA:101039
HP:0100851	Abnormal emotion/affect behavior	57526	PCDH19	OMIM:300088
HP:0100851	Abnormal emotion/affect behavior	23013	SPEN	OMIM:619312
HP:0100851	Abnormal emotion/affect behavior	84894	LINGO1	OMIM:618103
HP:0100851	Abnormal emotion/affect behavior	56896	DPYSL5	OMIM:619435
HP:0100851	Abnormal emotion/affect behavior	54517	PUS7	OMIM:618342
HP:0100851	Abnormal emotion/affect behavior	57102	C12orf4	OMIM:618221
HP:0100851	Abnormal emotion/affect behavior	10765	KDM5B	OMIM:618109
HP:0100851	Abnormal emotion/affect behavior	80184	CEP290	OMIM:610188
HP:0100851	Abnormal emotion/affect behavior	8924	HERC2	OMIM:615516
HP:0100851	Abnormal emotion/affect behavior	114327	EFHC1	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	2563	GABRD	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	1181	CLCN2	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	2554	GABRA1	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	3786	KCNQ3	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	22858	CILK1	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	8629	JRK	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	785	CACNB4	ORPHA:307
HP:0100851	Abnormal emotion/affect behavior	3067	HDC	OMIM:137580
HP:0100851	Abnormal emotion/affect behavior	114798	SLITRK1	OMIM:137580
HP:0100851	Abnormal emotion/affect behavior	85358	SHANK3	OMIM:606232
HP:0100851	Abnormal emotion/affect behavior	2334	AFF2	ORPHA:100973
HP:0100851	Abnormal emotion/affect behavior	2334	AFF2	OMIM:309548
HP:0100851	Abnormal emotion/affect behavior	1387	CREBBP	ORPHA:353281
HP:0100851	Abnormal emotion/affect behavior	1387	CREBBP	ORPHA:353277
HP:0100851	Abnormal emotion/affect behavior	23114	NFASC	OMIM:618356
HP:0100851	Abnormal emotion/affect behavior	6096	RORB	OMIM:618357
HP:0100851	Abnormal emotion/affect behavior	23030	KDM4B	OMIM:619320
HP:0100851	Abnormal emotion/affect behavior	23291	FBXW11	OMIM:618914
HP:0100851	Abnormal emotion/affect behavior	2782	GNB1	OMIM:616973
HP:0100851	Abnormal emotion/affect behavior	4081	MAB21L1	OMIM:618479
HP:0100851	Abnormal emotion/affect behavior	1654	DDX3X	ORPHA:457260
HP:0100851	Abnormal emotion/affect behavior	1654	DDX3X	OMIM:300958
HP:0100851	Abnormal emotion/affect behavior	2033	EP300	ORPHA:353284
HP:0100851	Abnormal emotion/affect behavior	3097	HIVEP2	OMIM:616977
HP:0100851	Abnormal emotion/affect behavior	6301	SARS1	OMIM:617709
HP:0100851	Abnormal emotion/affect behavior	5932	RBBP8	OMIM:251255
HP:0100851	Abnormal emotion/affect behavior	26224	FBXL3	OMIM:606220
HP:0100851	Abnormal emotion/affect behavior	55777	MBD5	OMIM:156200
HP:0100851	Abnormal emotion/affect behavior	55250	ELP2	OMIM:617270
HP:0100851	Abnormal emotion/affect behavior	51132	RLIM	OMIM:300978
HP:0100851	Abnormal emotion/affect behavior	4128	MAOA	OMIM:300615
HP:0100851	Abnormal emotion/affect behavior	24140	FTSJ1	OMIM:309549
HP:0100851	Abnormal emotion/affect behavior	6601	SMARCC2	OMIM:618362
HP:0100851	Abnormal emotion/affect behavior	6601	SMARCC2	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	63035	BCORL1	OMIM:301029
HP:0100851	Abnormal emotion/affect behavior	7468	NSD2	OMIM:619695
HP:0100851	Abnormal emotion/affect behavior	11253	MAN1B1	OMIM:614202
HP:0100851	Abnormal emotion/affect behavior	7874	USP7	OMIM:616863
HP:0100851	Abnormal emotion/affect behavior	7874	USP7	ORPHA:500055
HP:0100851	Abnormal emotion/affect behavior	6597	SMARCA4	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	6659	SOX4	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	8289	ARID1A	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	5977	DPF2	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	6602	SMARCD1	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	196528	ARID2	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	6605	SMARCE1	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	6664	SOX11	ORPHA:1465
HP:0100851	Abnormal emotion/affect behavior	54834	GDAP2	OMIM:618369
HP:0100851	Abnormal emotion/affect behavior	1201	CLN3	ORPHA:228346
HP:0100851	Abnormal emotion/affect behavior	23389	MED13L	ORPHA:369891
HP:0100851	Abnormal emotion/affect behavior	20	ABCA2	OMIM:618808
HP:0100851	Abnormal emotion/affect behavior	1781	DYNC1I2	OMIM:618492
HP:0100851	Abnormal emotion/affect behavior	5718	PSMD12	ORPHA:529962
HP:0100851	Abnormal emotion/affect behavior	2186	BPTF	ORPHA:529962
HP:0100851	Abnormal emotion/affect behavior	9758	FRMPD4	OMIM:300983
HP:0100851	Abnormal emotion/affect behavior	8802	SUCLG1	ORPHA:17
HP:0100851	Abnormal emotion/affect behavior	79576	NKAP	OMIM:301039
HP:0100851	Abnormal emotion/affect behavior	5283	PIGH	OMIM:618010
HP:0100851	Abnormal emotion/affect behavior	4126	MANBA	OMIM:248510
HP:0100851	Abnormal emotion/affect behavior	26040	SETBP1	OMIM:616078
HP:0100851	Abnormal emotion/affect behavior	3188	HNRNPH2	OMIM:300986
HP:0100851	Abnormal emotion/affect behavior	8398	PLA2G6	OMIM:612953
HP:0100851	Abnormal emotion/affect behavior	6697	SPR	OMIM:612716
HP:0100851	Abnormal emotion/affect behavior	84065	TMEM222	OMIM:619470
HP:0100851	Abnormal emotion/affect behavior	10771	ZMYND11	OMIM:616083
HP:0100851	Abnormal emotion/affect behavior	953	ENTPD1	ORPHA:401810
HP:0100851	Abnormal emotion/affect behavior	953	ENTPD1	OMIM:615683
HP:0100851	Abnormal emotion/affect behavior	139411	PTCHD1	OMIM:300830
HP:0100851	Abnormal emotion/affect behavior	55180	LINS1	OMIM:614340
HP:0100851	Abnormal emotion/affect behavior	81562	LMAN2L	OMIM:616887
HP:0100851	Abnormal emotion/affect behavior	163786	SASS6	OMIM:616402
HP:0100851	Abnormal emotion/affect behavior	7204	TRIO	OMIM:618825
HP:0100851	Abnormal emotion/affect behavior	7204	TRIO	OMIM:617061
HP:0100851	Abnormal emotion/affect behavior	7204	TRIO	ORPHA:476126
HP:0100851	Abnormal emotion/affect behavior	131669	UROC1	OMIM:276880
HP:0100851	Abnormal emotion/affect behavior	23040	MYT1L	OMIM:616521
HP:0100851	Abnormal emotion/affect behavior	162417	NAGS	OMIM:237310
HP:0100851	Abnormal emotion/affect behavior	7343	UBTF	ORPHA:500180
HP:0100851	Abnormal emotion/affect behavior	63932	STEEP1	OMIM:301013
HP:0100851	Abnormal emotion/affect behavior	4841	NONO	OMIM:300967
HP:0100851	Abnormal emotion/affect behavior	4841	NONO	ORPHA:466791
HP:0100851	Abnormal emotion/affect behavior	6472	SHMT2	OMIM:619121
HP:0100851	Abnormal emotion/affect behavior	91875	TTC5	OMIM:619244
HP:0100851	Abnormal emotion/affect behavior	23096	IQSEC2	OMIM:309530
HP:0100851	Abnormal emotion/affect behavior	6853	SYN1	ORPHA:85294
HP:0100851	Abnormal emotion/affect behavior	6853	SYN1	OMIM:300491
HP:0100851	Abnormal emotion/affect behavior	5625	PRODH	OMIM:239500
HP:0100851	Abnormal emotion/affect behavior	2799	GNS	OMIM:252940
HP:0100851	Abnormal emotion/affect behavior	9759	HDAC4	OMIM:600430
HP:0100851	Abnormal emotion/affect behavior	9320	TRIP12	OMIM:617752
HP:0100851	Abnormal emotion/affect behavior	5528	PPP2R5D	ORPHA:457279
HP:0100851	Abnormal emotion/affect behavior	4781	NFIB	OMIM:618286
HP:0100851	Abnormal emotion/affect behavior	55023	PHIP	OMIM:617991
HP:0100851	Abnormal emotion/affect behavior	51780	KDM3B	OMIM:618846
HP:0100851	Abnormal emotion/affect behavior	10079	ATP9A	OMIM:620242
HP:0100851	Abnormal emotion/affect behavior	1893	ECM1	OMIM:247100
HP:0100851	Abnormal emotion/affect behavior	1968	EIF2S3	OMIM:300148
HP:0100851	Abnormal emotion/affect behavior	27161	AGO2	OMIM:619149
HP:0100851	Abnormal emotion/affect behavior	3832	KIF11	OMIM:152950
HP:0100851	Abnormal emotion/affect behavior	341208	HEPHL1	OMIM:261990
HP:0100851	Abnormal emotion/affect behavior	2328	FMO3	ORPHA:468726
HP:0100851	Abnormal emotion/affect behavior	4669	NAGLU	OMIM:252920
HP:0100851	Abnormal emotion/affect behavior	9131	AIFM1	ORPHA:238329
HP:0100851	Abnormal emotion/affect behavior	9131	AIFM1	OMIM:300816
HP:0100851	Abnormal emotion/affect behavior	51126	NAA20	OMIM:619717
HP:0100851	Abnormal emotion/affect behavior	5009	OTC	OMIM:311250
HP:0100851	Abnormal emotion/affect behavior	4897	NRCAM	OMIM:619833
HP:0100851	Abnormal emotion/affect behavior	2731	GLDC	OMIM:605899
HP:0100851	Abnormal emotion/affect behavior	275	AMT	OMIM:605899
HP:0100851	Abnormal emotion/affect behavior	4072	EPCAM	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	4072	EPCAM	ORPHA:92050
HP:0100851	Abnormal emotion/affect behavior	4292	MLH1	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	5395	PMS2	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	27030	MLH3	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	22909	FAN1	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	7048	TGFBR2	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	3845	KRAS	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	5290	PIK3CA	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	2956	MSH6	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	5378	PMS1	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	4436	MSH2	ORPHA:144
HP:0100851	Abnormal emotion/affect behavior	4784	NFIX	ORPHA:447980
HP:0100851	Abnormal emotion/affect behavior	51218	GLRX5	ORPHA:401866
HP:0100851	Abnormal emotion/affect behavior	6531	SLC6A3	ORPHA:238455
HP:0100851	Abnormal emotion/affect behavior	249	ALPL	OMIM:241500
HP:0100851	Abnormal emotion/affect behavior	51506	UFC1	OMIM:618076
HP:0100851	Abnormal emotion/affect behavior	644096	SDHAF1	OMIM:619166
HP:0100851	Abnormal emotion/affect behavior	644096	SDHAF1	ORPHA:3208
HP:0100851	Abnormal emotion/affect behavior	64218	SEMA4A	ORPHA:440437
HP:0100851	Abnormal emotion/affect behavior	657	BMPR1A	ORPHA:440437
HP:0100851	Abnormal emotion/affect behavior	6224	RPS20	ORPHA:440437
HP:0100851	Abnormal emotion/affect behavior	6487	ST3GAL3	OMIM:615006
HP:0100851	Abnormal emotion/affect behavior	3141	HLCS	OMIM:253270
HP:0100851	Abnormal emotion/affect behavior	3141	HLCS	ORPHA:79242
HP:0100851	Abnormal emotion/affect behavior	271	AMPD2	OMIM:615809
HP:0100851	Abnormal emotion/affect behavior	105371045	PERCC1	ORPHA:92050
HP:0100851	Abnormal emotion/affect behavior	25839	COG4	ORPHA:263501
HP:0100851	Abnormal emotion/affect behavior	25839	COG4	OMIM:613489
HP:0100851	Abnormal emotion/affect behavior	55687	TRMU	OMIM:613070
HP:0100851	Abnormal emotion/affect behavior	55870	ASH1L	OMIM:617796
HP:0100851	Abnormal emotion/affect behavior	103	ADAR	OMIM:615010
HP:0100851	Abnormal emotion/affect behavior	103	ADAR	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	816	CAMK2B	OMIM:617799
HP:0100851	Abnormal emotion/affect behavior	7084	TK2	OMIM:609560
HP:0100851	Abnormal emotion/affect behavior	815	CAMK2A	OMIM:617798
HP:0100851	Abnormal emotion/affect behavior	2055	CLN8	OMIM:610003
HP:0100851	Abnormal emotion/affect behavior	501	ALDH7A1	ORPHA:3006
HP:0100851	Abnormal emotion/affect behavior	11212	PLPBP	ORPHA:3006
HP:0100851	Abnormal emotion/affect behavior	11212	PLPBP	OMIM:617290
HP:0100851	Abnormal emotion/affect behavior	84133	ZNRF3	ORPHA:1501
HP:0100851	Abnormal emotion/affect behavior	5573	PRKAR1A	ORPHA:1501
HP:0100851	Abnormal emotion/affect behavior	1499	CTNNB1	ORPHA:1501
HP:0100851	Abnormal emotion/affect behavior	1029	CDKN2A	ORPHA:1501
HP:0100851	Abnormal emotion/affect behavior	7015	TERT	ORPHA:1501
HP:0100851	Abnormal emotion/affect behavior	10273	STUB1	OMIM:618093
HP:0100851	Abnormal emotion/affect behavior	1594	CYP27B1	OMIM:264700
HP:0100851	Abnormal emotion/affect behavior	1594	CYP27B1	ORPHA:289157
HP:0100851	Abnormal emotion/affect behavior	8789	FBP2	OMIM:619864
HP:0100851	Abnormal emotion/affect behavior	833	CARS1	OMIM:618891
HP:0100851	Abnormal emotion/affect behavior	23230	VPS13A	ORPHA:2388
HP:0100851	Abnormal emotion/affect behavior	28514	DLL1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	28514	DLL1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	28514	DLL1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	28514	DLL1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	2253	FGF8	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	2253	FGF8	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	2253	FGF8	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	2253	FGF8	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	6496	SIX3	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	6496	SIX3	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	6496	SIX3	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	6496	SIX3	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	7050	TGIF1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	7050	TGIF1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	7050	TGIF1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	7050	TGIF1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	4838	NODAL	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	4838	NODAL	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	4838	NODAL	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	4838	NODAL	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	6469	SHH	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	6469	SHH	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	6469	SHH	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	6469	SHH	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	7546	ZIC2	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	7546	ZIC2	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	7546	ZIC2	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	7546	ZIC2	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	6491	STIL	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	6491	STIL	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	6491	STIL	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	6491	STIL	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	2619	GAS1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	2619	GAS1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	2619	GAS1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	2619	GAS1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	84976	DISP1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	84976	DISP1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	84976	DISP1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	84976	DISP1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	2736	GLI2	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	2736	GLI2	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	2736	GLI2	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	2736	GLI2	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	8928	FOXH1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	8928	FOXH1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	8928	FOXH1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	8928	FOXH1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	5727	PTCH1	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	5727	PTCH1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	5727	PTCH1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	5727	PTCH1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	50937	CDON	ORPHA:93926
HP:0100851	Abnormal emotion/affect behavior	50937	CDON	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	50937	CDON	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	50937	CDON	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	4338	MOCS2	OMIM:252160
HP:0100851	Abnormal emotion/affect behavior	2260	FGFR1	ORPHA:93924
HP:0100851	Abnormal emotion/affect behavior	2260	FGFR1	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	113235	SLC46A1	OMIM:229050
HP:0100851	Abnormal emotion/affect behavior	23007	PLCH1	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	10735	STAG2	ORPHA:93925
HP:0100851	Abnormal emotion/affect behavior	10735	STAG2	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	6513	SLC2A1	ORPHA:98811
HP:0100851	Abnormal emotion/affect behavior	6513	SLC2A1	OMIM:612126
HP:0100851	Abnormal emotion/affect behavior	112476	PRRT2	ORPHA:98811
HP:0100851	Abnormal emotion/affect behavior	788	SLC25A20	ORPHA:159
HP:0100851	Abnormal emotion/affect behavior	788	SLC25A20	OMIM:212138
HP:0100851	Abnormal emotion/affect behavior	1267	CNP	OMIM:619071
HP:0100851	Abnormal emotion/affect behavior	3043	HBB	ORPHA:231214
HP:0100851	Abnormal emotion/affect behavior	3043	HBB	ORPHA:231226
HP:0100851	Abnormal emotion/affect behavior	149371	EXOC8	OMIM:619076
HP:0100851	Abnormal emotion/affect behavior	23126	POGZ	OMIM:616364
HP:0100851	Abnormal emotion/affect behavior	120227	CYP2R1	ORPHA:289157
HP:0100851	Abnormal emotion/affect behavior	54914	FOCAD	OMIM:619991
HP:0100851	Abnormal emotion/affect behavior	2643	GCH1	OMIM:233910
HP:0100851	Abnormal emotion/affect behavior	80704	SLC19A3	OMIM:607483
HP:0100851	Abnormal emotion/affect behavior	80704	SLC19A3	ORPHA:263410
HP:0100851	Abnormal emotion/affect behavior	6609	SMPD1	OMIM:257200
HP:0100851	Abnormal emotion/affect behavior	2203	FBP1	ORPHA:348
HP:0100851	Abnormal emotion/affect behavior	2203	FBP1	OMIM:229700
HP:0100851	Abnormal emotion/affect behavior	5551	PRF1	OMIM:603553
HP:0100851	Abnormal emotion/affect behavior	79796	ALG9	ORPHA:79328
HP:0100851	Abnormal emotion/affect behavior	1615	DARS1	OMIM:615281
HP:0100851	Abnormal emotion/affect behavior	554	AVPR2	OMIM:304800
HP:0100851	Abnormal emotion/affect behavior	554	AVPR2	OMIM:300539
HP:0100851	Abnormal emotion/affect behavior	6506	SLC1A2	OMIM:617105
HP:0100851	Abnormal emotion/affect behavior	64135	IFIH1	OMIM:615846
HP:0100851	Abnormal emotion/affect behavior	64135	IFIH1	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	6598	SMARCB1	ORPHA:99966
HP:0100851	Abnormal emotion/affect behavior	9968	MED12	OMIM:301068
HP:0100851	Abnormal emotion/affect behavior	55739	NAXD	OMIM:618321
HP:0100851	Abnormal emotion/affect behavior	6389	SDHA	ORPHA:3208
HP:0100851	Abnormal emotion/affect behavior	6390	SDHB	ORPHA:3208
HP:0100851	Abnormal emotion/affect behavior	6390	SDHB	OMIM:619224
HP:0100851	Abnormal emotion/affect behavior	6392	SDHD	ORPHA:3208
HP:0100851	Abnormal emotion/affect behavior	5741	PTH	OMIM:146200
HP:0100851	Abnormal emotion/affect behavior	55275	VPS53	OMIM:615851
HP:0100851	Abnormal emotion/affect behavior	10165	SLC25A13	ORPHA:247585
HP:0100851	Abnormal emotion/affect behavior	445	ASS1	OMIM:215700
HP:0100851	Abnormal emotion/affect behavior	2778	GNAS	ORPHA:79443
HP:0100851	Abnormal emotion/affect behavior	2778	GNAS	ORPHA:79444
HP:0100851	Abnormal emotion/affect behavior	2778	GNAS	ORPHA:94089
HP:0100851	Abnormal emotion/affect behavior	5836	PYGL	ORPHA:369
HP:0100851	Abnormal emotion/affect behavior	6509	SLC1A4	ORPHA:447997
HP:0100851	Abnormal emotion/affect behavior	6509	SLC1A4	OMIM:616657
HP:0100851	Abnormal emotion/affect behavior	3339	HSPG2	ORPHA:800
HP:0100851	Abnormal emotion/affect behavior	28962	OSTM1	OMIM:259720
HP:0100851	Abnormal emotion/affect behavior	11277	TREX1	ORPHA:247691
HP:0100851	Abnormal emotion/affect behavior	11277	TREX1	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	6576	SLC25A1	OMIM:615182
HP:0100851	Abnormal emotion/affect behavior	10535	RNASEH2A	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	84153	RNASEH2C	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	25939	SAMHD1	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	25939	SAMHD1	OMIM:612952
HP:0100851	Abnormal emotion/affect behavior	79621	RNASEH2B	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	100147744	RNU7-1	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	100147744	RNU7-1	OMIM:619487
HP:0100851	Abnormal emotion/affect behavior	134353	LSM11	ORPHA:51
HP:0100851	Abnormal emotion/affect behavior	134353	LSM11	OMIM:619486
HP:0100851	Abnormal emotion/affect behavior	149233	IL23R	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	6775	STAT4	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	3586	IL10	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	4210	MEFV	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	1230	CCR1	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	355	FAS	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	3592	IL12A	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	101928376	IL12A-AS1	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	3106	HLA-B	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	7099	TLR4	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	3459	IFNGR1	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	720	C4A	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	337867	UBAC2	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	51752	ERAP1	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	8302	KLRC4	ORPHA:117
HP:0100851	Abnormal emotion/affect behavior	79876	UBA5	OMIM:617132
HP:0100851	Abnormal emotion/affect behavior	23516	SLC39A14	OMIM:617013
HP:0100851	Abnormal emotion/affect behavior	359	AQP2	OMIM:125800
HP:0100851	Abnormal emotion/affect behavior	2290	FOXG1	OMIM:613454
HP:0100851	Abnormal emotion/affect behavior	4719	NDUFS1	OMIM:618226
HP:0100851	Abnormal emotion/affect behavior	65062	TMEM237	OMIM:614424
HP:0100851	Abnormal emotion/affect behavior	6948	TCN2	OMIM:275350
HP:0100851	Abnormal emotion/affect behavior	79813	EHMT1	ORPHA:96147
HP:0100851	Abnormal emotion/affect behavior	9256	TSPOAP1	ORPHA:101150
HP:0100851	Abnormal emotion/affect behavior	7054	TH	ORPHA:101150
HP:0100851	Abnormal emotion/affect behavior	8675	STX16	ORPHA:94089
HP:0100851	Abnormal emotion/affect behavior	50814	NSDHL	ORPHA:251383
HP:0100851	Abnormal emotion/affect behavior	50814	NSDHL	OMIM:300831
HP:0100851	Abnormal emotion/affect behavior	2581	GALC	ORPHA:206443
HP:0100851	Abnormal emotion/affect behavior	2581	GALC	ORPHA:206436
HP:0100851	Abnormal emotion/affect behavior	55610	VPS50	OMIM:619685
HP:0100851	Abnormal emotion/affect behavior	26275	HIBCH	ORPHA:88639
HP:0100851	Abnormal emotion/affect behavior	26275	HIBCH	OMIM:250620
HP:0100851	Abnormal emotion/affect behavior	6567	SLC16A2	OMIM:300523
HP:0100851	Abnormal emotion/affect behavior	64801	ARV1	OMIM:617020
HP:0100851	Abnormal emotion/affect behavior	4695	NDUFA2	OMIM:618235
HP:0100851	Abnormal emotion/affect behavior	116461	TSEN15	OMIM:617026
HP:0100851	Abnormal emotion/affect behavior	10978	CLP1	ORPHA:411493
HP:0100851	Abnormal emotion/affect behavior	112939	NACC1	ORPHA:500545
HP:0100851	Abnormal emotion/affect behavior	112939	NACC1	OMIM:617393
HP:0100851	Abnormal emotion/affect behavior	5053	PAH	OMIM:261600
HP:0100851	Abnormal emotion/affect behavior	29078	NDUFAF4	OMIM:618237
HP:0100851	Abnormal emotion/affect behavior	6833	ABCC8	OMIM:240800
HP:0100851	Abnormal emotion/affect behavior	1644	DDC	OMIM:608643
HP:0100851	Abnormal emotion/affect behavior	443	ASPA	ORPHA:314911
HP:0100851	Abnormal emotion/affect behavior	4868	NPHS1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	23607	CD2AP	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	9688	NUP93	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	4643	MYO1E	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	64423	INF2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	26130	GAPVD1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	7490	WT1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	57122	NUP107	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	51479	ANKFY1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	54443	ANLN	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	5800	PTPRO	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	286204	CRB2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	23165	NUP205	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	2013	EMP2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	79023	NUP37	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	51196	PLCE1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	79902	NUP85	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	1285	COL4A3	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	396	ARHGDIA	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	79934	COQ8B	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	23279	NUP160	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	9863	MAGI2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	81	ACTN4	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	7225	TRPC6	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	8542	APOL1	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	54885	TBC1D8B	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	7827	NPHS2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	83478	ARHGAP24	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	23500	DAAM2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	5076	PAX2	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	55746	NUP133	ORPHA:656
HP:0100851	Abnormal emotion/affect behavior	8869	ST3GAL5	OMIM:609056
HP:0100851	Abnormal emotion/affect behavior	10588	MTHFS	OMIM:618367
HP:0100851	Abnormal emotion/affect behavior	55572	FOXRED1	OMIM:618241
HP:0100851	Abnormal emotion/affect behavior	8260	NAA10	OMIM:300855
HP:0100851	Abnormal emotion/affect behavior	29920	PYCR2	ORPHA:481152
HP:0100851	Abnormal emotion/affect behavior	3119	HLA-DQB1	OMIM:123400
HP:0100851	Abnormal emotion/affect behavior	55630	SLC39A4	OMIM:201100
HP:0100851	Abnormal emotion/affect behavior	11342	RNF13	OMIM:618379
HP:0100851	Abnormal emotion/affect behavior	11342	RNF13	ORPHA:544503
HP:0100851	Abnormal emotion/affect behavior	4700	NDUFA6	OMIM:618253
HP:0100851	Abnormal emotion/affect behavior	427	ASAH1	OMIM:228000
HP:0100851	Abnormal emotion/affect behavior	7421	VDR	OMIM:277440
HP:0100851	Abnormal emotion/affect behavior	773	CACNA1A	ORPHA:71518
HP:0100851	Abnormal emotion/affect behavior	26227	PHGDH	ORPHA:79351
HP:0100851	Abnormal emotion/affect behavior	4204	MECP2	ORPHA:3077
HP:0100851	Abnormal emotion/affect behavior	60386	SLC25A19	ORPHA:99742
HP:0100851	Abnormal emotion/affect behavior	60386	SLC25A19	OMIM:607196
HP:0100851	Abnormal emotion/affect behavior	5092	PCBD1	ORPHA:1578
HP:0100851	Abnormal emotion/affect behavior	80185	TTI2	ORPHA:391307
HP:0100851	Abnormal emotion/affect behavior	11340	EXOSC8	OMIM:616081
HP:0100851	Abnormal emotion/affect behavior	5167	ENPP1	ORPHA:51608
HP:0100851	Abnormal emotion/affect behavior	368	ABCC6	ORPHA:51608
HP:0100851	Abnormal emotion/affect behavior	51501	HIKESHI	OMIM:616881
HP:0100851	Abnormal emotion/affect behavior	435	ASL	OMIM:207900
HP:0100851	Abnormal emotion/affect behavior	3704	ITPA	OMIM:616647
HP:0100851	Abnormal emotion/affect behavior	51091	SEPSECS	OMIM:613811
HP:0100851	Abnormal emotion/affect behavior	2222	FDFT1	OMIM:618156
HP:0100851	Abnormal emotion/affect behavior	90522	YIF1B	OMIM:619125
HP:0100851	Abnormal emotion/affect behavior	374354	NHLRC2	OMIM:618278
HP:0100851	Abnormal emotion/affect behavior	128240	NAXE	OMIM:617186
HP:0100851	Abnormal emotion/affect behavior	1806	DPYD	ORPHA:1675
HP:0100851	Abnormal emotion/affect behavior	2893	GRIA4	OMIM:617864
HP:0100851	Abnormal emotion/affect behavior	57570	TRMT5	OMIM:616539
HP:0100851	Abnormal emotion/affect behavior	2998	GYS2	ORPHA:2089
HP:0100851	Abnormal emotion/affect behavior	1786	DNMT1	OMIM:614116
HP:0100851	Abnormal emotion/affect behavior	1759	DNM1	OMIM:620352
HP:0100851	Abnormal emotion/affect behavior	51	ACOX1	OMIM:264470
HP:0100851	Abnormal emotion/affect behavior	5805	PTS	OMIM:261640
HP:0100851	Abnormal emotion/affect behavior	551	AVP	ORPHA:30925
HP:0100851	Abnormal emotion/affect behavior	200205	IBA57	OMIM:615330
HP:0100851	Abnormal emotion/affect behavior	5538	PPT1	OMIM:256730
HP:0100851	Abnormal emotion/affect behavior	8243	SMC1A	ORPHA:220386
HP:0100851	Abnormal emotion/affect behavior	383	ARG1	OMIM:207800
HP:0100851	Abnormal emotion/affect behavior	9439	MED23	OMIM:614249
HP:0100851	Abnormal emotion/affect behavior	5660	PSAP	ORPHA:206436
HP:0100851	Abnormal emotion/affect behavior	4693	NDP	ORPHA:649
HP:0100851	Abnormal emotion/affect behavior	4508	MT-ATP6	ORPHA:644
HP:0100851	Abnormal emotion/affect behavior	5860	QDPR	OMIM:261630
HP:0100851	Abnormal emotion/affect behavior	8803	SUCLA2	OMIM:612073
HP:0100851	Abnormal emotion/affect behavior	498	ATP5F1A	OMIM:615228
HP:0100851	Abnormal emotion/affect behavior	1373	CPS1	OMIM:237300
HP:0100851	Abnormal emotion/affect behavior	3155	HMGCL	ORPHA:20
HP:0100851	Abnormal emotion/affect behavior	3155	HMGCL	OMIM:246450
HP:0100851	Abnormal emotion/affect behavior	27235	COQ2	ORPHA:227510
HP:0100851	Abnormal emotion/affect behavior	27235	COQ2	ORPHA:98933
HP:0100851	Abnormal emotion/affect behavior	10102	TSFM	OMIM:610505
HP:0100851	Abnormal emotion/affect behavior	203228	C9orf72	OMIM:105550
HP:0100851	Abnormal emotion/affect behavior	3073	HEXA	OMIM:272800
HP:0100851	Abnormal emotion/affect behavior	2670	GFAP	OMIM:203450
HP:0100851	Abnormal emotion/affect behavior	1356	CP	ORPHA:48818
HP:0100851	Abnormal emotion/affect behavior	38	ACAT1	ORPHA:134
HP:0100851	Abnormal emotion/affect behavior	5354	PLP1	OMIM:312080
HP:0100851	Abnormal emotion/affect behavior	210	ALAD	ORPHA:100924
HP:0100851	Abnormal emotion/affect behavior	654	BMP6	ORPHA:465508
HP:0100851	Abnormal emotion/affect behavior	3077	HFE	ORPHA:465508
HP:0100851	Abnormal emotion/affect behavior	54832	VPS13C	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	11315	PARK7	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	7345	UCHL1	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	27429	HTRA2	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	9829	DNAJC6	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	5420	PODXL	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	65018	PINK1	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	8867	SYNJ1	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	5071	PRKN	ORPHA:2828
HP:0100851	Abnormal emotion/affect behavior	2760	GM2A	OMIM:272750
HP:0100851	Abnormal emotion/affect behavior	339983	NAT8L	OMIM:614063
HP:0100851	Abnormal emotion/affect behavior	8367	H4C5	OMIM:619950
HP:0100851	Abnormal emotion/affect behavior	54499	TMCO1	OMIM:213980
HP:0100851	Abnormal emotion/affect behavior	8567	MADD	OMIM:619004
HP:0100851	Abnormal emotion/affect behavior	8567	MADD	OMIM:619005
HP:0100851	Abnormal emotion/affect behavior	79868	ALG13	OMIM:300884
HP:0100851	Abnormal emotion/affect behavior	54820	NDE1	OMIM:605013
HP:0100851	Abnormal emotion/affect behavior	113246	C12orf57	OMIM:218340
HP:0100851	Abnormal emotion/affect behavior	818	CAMK2G	OMIM:618522
HP:0100851	Abnormal emotion/affect behavior	8218	CLTCL1	ORPHA:453510
HP:0100851	Abnormal emotion/affect behavior	51574	LARP7	ORPHA:319671
HP:0100851	Abnormal emotion/affect behavior	549	AUH	OMIM:250950
HP:0100851	Abnormal emotion/affect behavior	55181	SMG8	OMIM:619268
HP:0100851	Abnormal emotion/affect behavior	10533	ATG7	OMIM:619422
HP:0100851	Abnormal emotion/affect behavior	55636	CHD7	OMIM:214800
HP:0100851	Abnormal emotion/affect behavior	57187	THOC2	ORPHA:457240
HP:0100851	Abnormal emotion/affect behavior	22827	PUF60	ORPHA:508488
HP:0100851	Abnormal emotion/affect behavior	57459	GATAD2B	ORPHA:363686
HP:0100851	Abnormal emotion/affect behavior	4983	OPHN1	OMIM:300486
HP:0100851	Abnormal emotion/affect behavior	2783	GNB2	OMIM:619503
HP:0100851	Abnormal emotion/affect behavior	2629	GBA1	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	23317	DNAJC13	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	1981	EIF4G1	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	55737	VPS35	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	120892	LRRK2	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	26058	GIGYF2	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	6622	SNCA	ORPHA:411602
HP:0100851	Abnormal emotion/affect behavior	3000	GUCY2D	OMIM:204000
HP:0100851	Abnormal emotion/affect behavior	6121	RPE65	OMIM:204100
HP:0100851	Abnormal emotion/affect behavior	7287	TULP1	OMIM:613843
HP:0100851	Abnormal emotion/affect behavior	23418	CRB1	OMIM:613835
HP:0100851	Abnormal emotion/affect behavior	64802	NMNAT1	OMIM:608553
HP:0100851	Abnormal emotion/affect behavior	9487	PIGL	OMIM:280000
HP:0100851	Abnormal emotion/affect behavior	4692	NDN	ORPHA:177904
HP:0100851	Abnormal emotion/affect behavior	4692	NDN	ORPHA:177901
HP:0100851	Abnormal emotion/affect behavior	4692	NDN	ORPHA:98754
HP:0100851	Abnormal emotion/affect behavior	54551	MAGEL2	ORPHA:177904
HP:0100851	Abnormal emotion/affect behavior	54551	MAGEL2	ORPHA:177901
HP:0100851	Abnormal emotion/affect behavior	54551	MAGEL2	ORPHA:398069
HP:0100851	Abnormal emotion/affect behavior	54551	MAGEL2	OMIM:615547
HP:0100851	Abnormal emotion/affect behavior	54551	MAGEL2	ORPHA:98754
HP:0100851	Abnormal emotion/affect behavior	6492	SIM1	ORPHA:398079
HP:0100851	Abnormal emotion/affect behavior	6532	SLC6A4	OMIM:164230
HP:0100851	Abnormal emotion/affect behavior	3356	HTR2A	OMIM:164230
HP:0100851	Abnormal emotion/affect behavior	374969	SVBP	OMIM:618569
HP:0100851	Abnormal emotion/affect behavior	57551	TAOK1	OMIM:619575
HP:0100851	Abnormal emotion/affect behavior	10524	KAT5	OMIM:619103
HP:0100851	Abnormal emotion/affect behavior	5281	PIGF	OMIM:619356
HP:0100851	Abnormal emotion/affect behavior	10743	RAI1	OMIM:182290
HP:0100851	Abnormal emotion/affect behavior	55367	PIDD1	OMIM:619827
HP:0100851	Abnormal emotion/affect behavior	10059	DNM1L	OMIM:614388
HP:0100851	Abnormal emotion/affect behavior	476	ATP1A1	OMIM:618314
HP:0100851	Abnormal emotion/affect behavior	9731	CEP104	OMIM:619988
HP:0100851	Abnormal emotion/affect behavior	6857	SYT1	ORPHA:522077
HP:0100851	Abnormal emotion/affect behavior	340533	NEXMIF	OMIM:300912
HP:0100851	Abnormal emotion/affect behavior	5654	HTRA1	ORPHA:199354
HP:0100851	Abnormal emotion/affect behavior	4854	NOTCH3	OMIM:125310
HP:0100851	Abnormal emotion/affect behavior	1641	DCX	ORPHA:2148
HP:0100851	Abnormal emotion/affect behavior	51324	SPG21	OMIM:248900
HP:0100851	Abnormal emotion/affect behavior	5621	PRNP	ORPHA:282166
HP:0100851	Abnormal emotion/affect behavior	25978	CHMP2B	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	5663	PSEN1	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	5663	PSEN1	OMIM:172700
HP:0100851	Abnormal emotion/affect behavior	2896	GRN	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	54664	TMEM106B	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	8878	SQSTM1	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	4137	MAPT	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	4137	MAPT	OMIM:172700
HP:0100851	Abnormal emotion/affect behavior	54209	TREM2	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	7415	VCP	ORPHA:275864
HP:0100851	Abnormal emotion/affect behavior	1798	DPAGT1	ORPHA:86309
HP:0100851	Abnormal emotion/affect behavior	57338	JPH3	OMIM:606438
HP:0100851	Abnormal emotion/affect behavior	80025	PANK2	ORPHA:216873
HP:0100851	Abnormal emotion/affect behavior	2332	FMR1	ORPHA:93256
HP:0100851	Abnormal emotion/affect behavior	6310	ATXN1	ORPHA:98755
HP:0100851	Abnormal emotion/affect behavior	5575	PRKAR1B	ORPHA:412066
HP:0100851	Abnormal emotion/affect behavior	1593	CYP27A1	ORPHA:909
HP:0100851	Abnormal emotion/affect behavior	3064	HTT	ORPHA:399
HP:0100851	Abnormal emotion/affect behavior	6515	SLC2A3	ORPHA:399
HP:0100851	Abnormal emotion/affect behavior	1137	CHRNA4	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	1135	CHRNA2	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	57010	CABP4	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	1141	CHRNB2	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	57582	KCNT1	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	1392	CRH	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	9681	DEPDC5	ORPHA:98784
HP:0100851	Abnormal emotion/affect behavior	51473	DCDC2	ORPHA:84081
HP:0100851	Abnormal emotion/affect behavior	91147	TMEM67	ORPHA:84081
HP:0100851	Abnormal emotion/affect behavior	84196	USP48	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	7157	TP53	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	9101	USP8	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	64072	CDH23	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	2908	NR3C1	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	673	BRAF	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	546	ATRX	ORPHA:96253
HP:0100851	Abnormal emotion/affect behavior	9896	FIG4	ORPHA:208441
HP:0100851	Abnormal emotion/affect behavior	387119	CEP85L	OMIM:618873
HP:0100851	Abnormal emotion/affect behavior	1639	DCTN1	OMIM:168605
HP:0100851	Abnormal emotion/affect behavior	6711	SPTBN1	OMIM:619475
HP:0100851	Abnormal emotion/affect behavior	7305	TYROBP	OMIM:221770
HP:0100851	Abnormal emotion/affect behavior	23314	SATB2	ORPHA:576283
HP:0100851	Abnormal emotion/affect behavior	23314	SATB2	OMIM:612313
HP:0100851	Abnormal emotion/affect behavior	7337	UBE3A	ORPHA:98794
HP:0100851	Abnormal emotion/affect behavior	7337	UBE3A	OMIM:105830
HP:0100851	Abnormal emotion/affect behavior	7337	UBE3A	ORPHA:411511
HP:0100851	Abnormal emotion/affect behavior	7337	UBE3A	ORPHA:411515
HP:0100851	Abnormal emotion/affect behavior	4948	OCA2	ORPHA:98794
HP:0100851	Abnormal emotion/affect behavior	158	ADSL	OMIM:103050
HP:0100851	Abnormal emotion/affect behavior	55773	TBC1D23	OMIM:617695
HP:0100851	Abnormal emotion/affect behavior	1859	DYRK1A	OMIM:614104
HP:0100851	Abnormal emotion/affect behavior	23394	ADNP	OMIM:615873
HP:0100851	Abnormal emotion/affect behavior	80232	WDR26	OMIM:617616
HP:0100851	Abnormal emotion/affect behavior	6638	SNRPN	OMIM:105830
HP:0100851	Abnormal emotion/affect behavior	6638	SNRPN	ORPHA:177907
HP:0100851	Abnormal emotion/affect behavior	6638	SNRPN	ORPHA:411515
HP:0100851	Abnormal emotion/affect behavior	9839	ZEB2	OMIM:235730
HP:0100851	Abnormal emotion/affect behavior	9839	ZEB2	ORPHA:261537
HP:0100851	Abnormal emotion/affect behavior	9839	ZEB2	ORPHA:261552
HP:0100851	Abnormal emotion/affect behavior	6925	TCF4	ORPHA:2896
HP:0100851	Abnormal emotion/affect behavior	2898	GRIK2	OMIM:619580
HP:0100851	Abnormal emotion/affect behavior	55869	HDAC8	OMIM:300882
HP:0100851	Abnormal emotion/affect behavior	10479	SLC9A6	OMIM:300243
HP:0100851	Abnormal emotion/affect behavior	171023	ASXL1	ORPHA:97297
HP:0100851	Abnormal emotion/affect behavior	55617	TASP1	OMIM:618950
HP:0100851	Abnormal emotion/affect behavior	57688	ZSWIM6	OMIM:617865
HP:0100851	Abnormal emotion/affect behavior	9230	RAB11B	OMIM:617807
HP:0100851	Abnormal emotion/affect behavior	57194	ATP10A	ORPHA:411515
HP:0100851	Abnormal emotion/affect behavior	284058	KANSL1	OMIM:610443
HP:0100851	Abnormal emotion/affect behavior	259232	NALCN	ORPHA:371364
HP:0100851	Abnormal emotion/affect behavior	285175	UNC80	ORPHA:371364
HP:0100851	Abnormal emotion/affect behavior	2775	GNAO1	OMIM:617493
HP:0100851	Abnormal emotion/affect behavior	2775	GNAO1	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	123606	NIPA1	ORPHA:261183
HP:0100851	Abnormal emotion/affect behavior	7283	TUBG1	ORPHA:261183
HP:0100851	Abnormal emotion/affect behavior	81614	NIPA2	ORPHA:261183
HP:0100851	Abnormal emotion/affect behavior	11133	KPTN	OMIM:615637
HP:0100851	Abnormal emotion/affect behavior	11133	KPTN	ORPHA:397612
HP:0100851	Abnormal emotion/affect behavior	7681	MKRN3	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	3653	IPW	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	791114	PWRN1	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	100033413	SNORD116-1	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	145624	PWAR1	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	23742	NPAP1	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	338433	SNORD115-1	OMIM:176270
HP:0100851	Abnormal emotion/affect behavior	5515	PPP2CA	OMIM:618354
HP:0100851	Abnormal emotion/affect behavior	80816	ASXL3	OMIM:615485
HP:0100851	Abnormal emotion/affect behavior	57520	HECW2	OMIM:617268
HP:0100851	Abnormal emotion/affect behavior	2902	GRIN1	OMIM:617820
HP:0100851	Abnormal emotion/affect behavior	2902	GRIN1	OMIM:614254
HP:0100851	Abnormal emotion/affect behavior	2902	GRIN1	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	2902	GRIN1	ORPHA:208447
HP:0100851	Abnormal emotion/affect behavior	2314	FLII	ORPHA:819
HP:0100851	Abnormal emotion/affect behavior	7086	TKT	ORPHA:488618
HP:0100851	Abnormal emotion/affect behavior	7086	TKT	OMIM:617044
HP:0100851	Abnormal emotion/affect behavior	2891	GRIA2	OMIM:618917
HP:0100851	Abnormal emotion/affect behavior	5934	RBL2	OMIM:619690
HP:0100851	Abnormal emotion/affect behavior	473	RERE	ORPHA:494344
HP:0100851	Abnormal emotion/affect behavior	473	RERE	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	56992	KIF15	ORPHA:261323
HP:0100851	Abnormal emotion/affect behavior	23221	RHOBTB2	OMIM:618004
HP:0100851	Abnormal emotion/affect behavior	6844	VAMP2	OMIM:618760
HP:0100851	Abnormal emotion/affect behavior	535	ATP6V0A1	OMIM:619970
HP:0100851	Abnormal emotion/affect behavior	23325	WASHC4	OMIM:615817
HP:0100851	Abnormal emotion/affect behavior	1000	CDH2	OMIM:618929
HP:0100851	Abnormal emotion/affect behavior	51185	CRBN	OMIM:607417
HP:0100851	Abnormal emotion/affect behavior	3735	KARS1	OMIM:613641
HP:0100851	Abnormal emotion/affect behavior	6197	RPS6KA3	ORPHA:192
HP:0100851	Abnormal emotion/affect behavior	1182	CLCN3	OMIM:619512
HP:0100851	Abnormal emotion/affect behavior	5590	PRKCZ	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	8510	MMP23B	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	7798	LUZP1	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	6497	SKI	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	10630	PDPN	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	10277	UBE4B	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	8514	KCNAB2	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	63976	PRDM16	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	54897	CASZ1	ORPHA:1606
HP:0100851	Abnormal emotion/affect behavior	25914	RTTN	ORPHA:468631
HP:0100851	Abnormal emotion/affect behavior	8405	SPOP	OMIM:618828
HP:0100851	Abnormal emotion/affect behavior	8936	WASF1	OMIM:618707
HP:0100851	Abnormal emotion/affect behavior	6134	RPL10	ORPHA:435938
HP:0100851	Abnormal emotion/affect behavior	3251	HPRT1	OMIM:300322
HP:0100851	Abnormal emotion/affect behavior	58508	KMT2C	ORPHA:261652
HP:0100851	Abnormal emotion/affect behavior	58508	KMT2C	OMIM:617768
HP:0100851	Abnormal emotion/affect behavior	3800	KIF5C	OMIM:615282
HP:0100851	Abnormal emotion/affect behavior	53335	BCL11A	OMIM:617101
HP:0100851	Abnormal emotion/affect behavior	55164	SHQ1	OMIM:619922
HP:0100851	Abnormal emotion/affect behavior	79633	FAT4	ORPHA:314679
HP:0100851	Abnormal emotion/affect behavior	8642	DCHS1	ORPHA:314679
HP:0100851	Abnormal emotion/affect behavior	9568	GABBR2	OMIM:617904
HP:0100851	Abnormal emotion/affect behavior	26154	ABCA12	ORPHA:457
HP:0100851	Abnormal emotion/affect behavior	84628	NTNG2	OMIM:618718
HP:0100851	Abnormal emotion/affect behavior	2706	GJB2	ORPHA:494
HP:0100851	Abnormal emotion/affect behavior	25836	NIPBL	OMIM:122470
HP:0100851	Abnormal emotion/affect behavior	2890	GRIA1	OMIM:619931
HP:0100851	Abnormal emotion/affect behavior	2702	GJA5	OMIM:612474
HP:0100851	Abnormal emotion/affect behavior	2703	GJA8	OMIM:612474
HP:0100851	Abnormal emotion/affect behavior	2744	GLS	OMIM:618339
HP:0100851	Abnormal emotion/affect behavior	6792	CDKL5	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	3736	KCNA1	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	9091	PIGQ	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	81603	TRIM8	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	79751	SLC25A22	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	150094	SIK1	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	8573	CASK	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	23312	DMXL2	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	2917	GRM7	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	170302	ARX	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	11284	PNKP	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	6326	SCN2A	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	51227	PIGP	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	6324	SCN1B	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	4761	NEUROD2	ORPHA:1934
HP:0100851	Abnormal emotion/affect behavior	8831	SYNGAP1	ORPHA:1942
HP:0100851	Abnormal emotion/affect behavior	1173	AP2M1	ORPHA:1942
HP:0100851	Abnormal emotion/affect behavior	6529	SLC6A1	ORPHA:1942
HP:0100852	Abnormal fear/anxiety-related behavior	5621	PRNP	ORPHA:282166
HP:0100852	Abnormal fear/anxiety-related behavior	5621	PRNP	OMIM:603218
HP:0100852	Abnormal fear/anxiety-related behavior	5621	PRNP	ORPHA:280397
HP:0100852	Abnormal fear/anxiety-related behavior	5621	PRNP	OMIM:123400
HP:0100852	Abnormal fear/anxiety-related behavior	3064	HTT	ORPHA:399
HP:0100852	Abnormal fear/anxiety-related behavior	6515	SLC2A3	ORPHA:399
HP:0100852	Abnormal fear/anxiety-related behavior	199857	ALG14	OMIM:619031
HP:0100852	Abnormal fear/anxiety-related behavior	7528	YY1	ORPHA:506358
HP:0100852	Abnormal fear/anxiety-related behavior	7528	YY1	OMIM:617557
HP:0100852	Abnormal fear/anxiety-related behavior	7528	YY1	ORPHA:97279
HP:0100852	Abnormal fear/anxiety-related behavior	6513	SLC2A1	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	2562	GABRB3	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	2554	GABRA1	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	2554	GABRA1	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	8912	CACNA1H	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	8629	JRK	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	2566	GABRG2	ORPHA:64280
HP:0100852	Abnormal fear/anxiety-related behavior	2566	GABRG2	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	2566	GABRG2	ORPHA:1945
HP:0100852	Abnormal fear/anxiety-related behavior	2566	GABRG2	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	23394	ADNP	ORPHA:404448
HP:0100852	Abnormal fear/anxiety-related behavior	23394	ADNP	OMIM:615873
HP:0100852	Abnormal fear/anxiety-related behavior	7384	UQCRC1	OMIM:619279
HP:0100852	Abnormal fear/anxiety-related behavior	340533	NEXMIF	OMIM:300912
HP:0100852	Abnormal fear/anxiety-related behavior	1183	CLCN4	OMIM:300114
HP:0100852	Abnormal fear/anxiety-related behavior	1183	CLCN4	ORPHA:485350
HP:0100852	Abnormal fear/anxiety-related behavior	50651	SLC45A1	OMIM:617532
HP:0100852	Abnormal fear/anxiety-related behavior	6938	TCF12	OMIM:619718
HP:0100852	Abnormal fear/anxiety-related behavior	3008	H1-4	OMIM:617537
HP:0100852	Abnormal fear/anxiety-related behavior	10060	ABCC9	OMIM:619719
HP:0100852	Abnormal fear/anxiety-related behavior	478	ATP1A3	OMIM:128235
HP:0100852	Abnormal fear/anxiety-related behavior	478	ATP1A3	ORPHA:71517
HP:0100852	Abnormal fear/anxiety-related behavior	64324	NSD1	ORPHA:821
HP:0100852	Abnormal fear/anxiety-related behavior	29072	SETD2	ORPHA:821
HP:0100852	Abnormal fear/anxiety-related behavior	29072	SETD2	OMIM:616831
HP:0100852	Abnormal fear/anxiety-related behavior	10297	APC2	ORPHA:821
HP:0100852	Abnormal fear/anxiety-related behavior	55209	SETD5	ORPHA:404440
HP:0100852	Abnormal fear/anxiety-related behavior	5521	PPP2R2B	OMIM:604326
HP:0100852	Abnormal fear/anxiety-related behavior	4072	EPCAM	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	4292	MLH1	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	5395	PMS2	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	27030	MLH3	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	22909	FAN1	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	7048	TGFBR2	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	3845	KRAS	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	5290	PIK3CA	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	2956	MSH6	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	5378	PMS1	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	4436	MSH2	ORPHA:144
HP:0100852	Abnormal fear/anxiety-related behavior	4125	MAN2B1	ORPHA:309282
HP:0100852	Abnormal fear/anxiety-related behavior	4125	MAN2B1	ORPHA:309288
HP:0100852	Abnormal fear/anxiety-related behavior	4312	MMP1	ORPHA:79408
HP:0100852	Abnormal fear/anxiety-related behavior	1294	COL7A1	ORPHA:79408
HP:0100852	Abnormal fear/anxiety-related behavior	1294	COL7A1	ORPHA:89842
HP:0100852	Abnormal fear/anxiety-related behavior	116931	MED12L	OMIM:618872
HP:0100852	Abnormal fear/anxiety-related behavior	3074	HEXB	ORPHA:309169
HP:0100852	Abnormal fear/anxiety-related behavior	9578	CDC42BPB	OMIM:619841
HP:0100852	Abnormal fear/anxiety-related behavior	5155	PDGFB	OMIM:615483
HP:0100852	Abnormal fear/anxiety-related behavior	5575	PRKAR1B	ORPHA:412066
HP:0100852	Abnormal fear/anxiety-related behavior	64218	SEMA4A	ORPHA:440437
HP:0100852	Abnormal fear/anxiety-related behavior	657	BMPR1A	ORPHA:440437
HP:0100852	Abnormal fear/anxiety-related behavior	6224	RPS20	ORPHA:440437
HP:0100852	Abnormal fear/anxiety-related behavior	4137	MAPT	ORPHA:240085
HP:0100852	Abnormal fear/anxiety-related behavior	4137	MAPT	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	7532	YWHAG	OMIM:617665
HP:0100852	Abnormal fear/anxiety-related behavior	50940	PDE11A	OMIM:610475
HP:0100852	Abnormal fear/anxiety-related behavior	55904	KMT2E	OMIM:618512
HP:0100852	Abnormal fear/anxiety-related behavior	2314	FLII	ORPHA:819
HP:0100852	Abnormal fear/anxiety-related behavior	23096	IQSEC2	ORPHA:819
HP:0100852	Abnormal fear/anxiety-related behavior	10743	RAI1	ORPHA:819
HP:0100852	Abnormal fear/anxiety-related behavior	10743	RAI1	ORPHA:1713
HP:0100852	Abnormal fear/anxiety-related behavior	10522	DEAF1	ORPHA:819
HP:0100852	Abnormal fear/anxiety-related behavior	10847	SRCAP	ORPHA:2044
HP:0100852	Abnormal fear/anxiety-related behavior	27102	EIF2AK1	OMIM:618878
HP:0100852	Abnormal fear/anxiety-related behavior	6660	SOX5	ORPHA:313892
HP:0100852	Abnormal fear/anxiety-related behavior	6660	SOX5	OMIM:616803
HP:0100852	Abnormal fear/anxiety-related behavior	284058	KANSL1	ORPHA:363958
HP:0100852	Abnormal fear/anxiety-related behavior	284058	KANSL1	ORPHA:363965
HP:0100852	Abnormal fear/anxiety-related behavior	284058	KANSL1	OMIM:610443
HP:0100852	Abnormal fear/anxiety-related behavior	55870	ASH1L	OMIM:617796
HP:0100852	Abnormal fear/anxiety-related behavior	55154	MSTO1	OMIM:617675
HP:0100852	Abnormal fear/anxiety-related behavior	55154	MSTO1	ORPHA:502423
HP:0100852	Abnormal fear/anxiety-related behavior	50484	RRM2B	OMIM:613077
HP:0100852	Abnormal fear/anxiety-related behavior	50484	RRM2B	ORPHA:254892
HP:0100852	Abnormal fear/anxiety-related behavior	9739	SETD1A	OMIM:619056
HP:0100852	Abnormal fear/anxiety-related behavior	10352	WARS2	OMIM:619738
HP:0100852	Abnormal fear/anxiety-related behavior	3117	HLA-DQA1	OMIM:212750
HP:0100852	Abnormal fear/anxiety-related behavior	3119	HLA-DQB1	OMIM:212750
HP:0100852	Abnormal fear/anxiety-related behavior	3119	HLA-DQB1	OMIM:123400
HP:0100852	Abnormal fear/anxiety-related behavior	83550	GPR101	ORPHA:963
HP:0100852	Abnormal fear/anxiety-related behavior	2332	FMR1	ORPHA:93256
HP:0100852	Abnormal fear/anxiety-related behavior	2332	FMR1	ORPHA:908
HP:0100852	Abnormal fear/anxiety-related behavior	2332	FMR1	ORPHA:449291
HP:0100852	Abnormal fear/anxiety-related behavior	2332	FMR1	OMIM:300623
HP:0100852	Abnormal fear/anxiety-related behavior	7276	TTR	OMIM:105210
HP:0100852	Abnormal fear/anxiety-related behavior	10273	STUB1	OMIM:618093
HP:0100852	Abnormal fear/anxiety-related behavior	64919	BCL11B	OMIM:618092
HP:0100852	Abnormal fear/anxiety-related behavior	5159	PDGFRB	OMIM:616592
HP:0100852	Abnormal fear/anxiety-related behavior	79152	FA2H	ORPHA:329308
HP:0100852	Abnormal fear/anxiety-related behavior	4297	KMT2A	ORPHA:319182
HP:0100852	Abnormal fear/anxiety-related behavior	7466	WFS1	OMIM:614296
HP:0100852	Abnormal fear/anxiety-related behavior	7466	WFS1	ORPHA:411590
HP:0100852	Abnormal fear/anxiety-related behavior	5813	PURA	ORPHA:438216
HP:0100852	Abnormal fear/anxiety-related behavior	1201	CLN3	OMIM:204200
HP:0100852	Abnormal fear/anxiety-related behavior	1201	CLN3	ORPHA:228346
HP:0100852	Abnormal fear/anxiety-related behavior	23230	VPS13A	ORPHA:2388
HP:0100852	Abnormal fear/anxiety-related behavior	23230	VPS13A	OMIM:200150
HP:0100852	Abnormal fear/anxiety-related behavior	28514	DLL1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	28514	DLL1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	28514	DLL1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	28514	DLL1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	2253	FGF8	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	2253	FGF8	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	2253	FGF8	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	2253	FGF8	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	2253	FGF8	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	6496	SIX3	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	6496	SIX3	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	6496	SIX3	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	6496	SIX3	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	7050	TGIF1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	7050	TGIF1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	7050	TGIF1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	7050	TGIF1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	4838	NODAL	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	4838	NODAL	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	4838	NODAL	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	4838	NODAL	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	6469	SHH	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	6469	SHH	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	6469	SHH	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	6469	SHH	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	7546	ZIC2	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	7546	ZIC2	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	7546	ZIC2	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	7546	ZIC2	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	6491	STIL	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	6491	STIL	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	6491	STIL	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	6491	STIL	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	2619	GAS1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	2619	GAS1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	2619	GAS1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	2619	GAS1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	84976	DISP1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	84976	DISP1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	84976	DISP1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	84976	DISP1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	2736	GLI2	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	2736	GLI2	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	2736	GLI2	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	2736	GLI2	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	8928	FOXH1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	8928	FOXH1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	8928	FOXH1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	8928	FOXH1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	5727	PTCH1	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	5727	PTCH1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	5727	PTCH1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	5727	PTCH1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	50937	CDON	ORPHA:93926
HP:0100852	Abnormal fear/anxiety-related behavior	50937	CDON	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	50937	CDON	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	50937	CDON	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	2260	FGFR1	ORPHA:93924
HP:0100852	Abnormal fear/anxiety-related behavior	2260	FGFR1	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	2260	FGFR1	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	23007	PLCH1	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	10735	STAG2	ORPHA:93925
HP:0100852	Abnormal fear/anxiety-related behavior	10735	STAG2	ORPHA:521258
HP:0100852	Abnormal fear/anxiety-related behavior	10735	STAG2	ORPHA:220386
HP:0100852	Abnormal fear/anxiety-related behavior	2903	GRIN2A	ORPHA:98818
HP:0100852	Abnormal fear/anxiety-related behavior	2903	GRIN2A	ORPHA:1945
HP:0100852	Abnormal fear/anxiety-related behavior	25942	SIN3A	OMIM:613406
HP:0100852	Abnormal fear/anxiety-related behavior	27235	COQ2	ORPHA:98933
HP:0100852	Abnormal fear/anxiety-related behavior	27235	COQ2	ORPHA:227510
HP:0100852	Abnormal fear/anxiety-related behavior	6335	SCN9A	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	6335	SCN9A	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	112755	STX1B	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	2563	GABRD	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	6326	SCN2A	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	6326	SCN2A	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	6323	SCN1A	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	6323	SCN1A	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	6324	SCN1B	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	6324	SCN1B	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	348980	HCN1	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	84059	ADGRV1	ORPHA:36387
HP:0100852	Abnormal fear/anxiety-related behavior	84059	ADGRV1	ORPHA:231178
HP:0100852	Abnormal fear/anxiety-related behavior	7915	ALDH5A1	OMIM:271980
HP:0100852	Abnormal fear/anxiety-related behavior	84138	SLC7A6OS	OMIM:619191
HP:0100852	Abnormal fear/anxiety-related behavior	8493	PPM1D	OMIM:617450
HP:0100852	Abnormal fear/anxiety-related behavior	1182	CLCN3	OMIM:619512
HP:0100852	Abnormal fear/anxiety-related behavior	2324	FLT4	OMIM:618780
HP:0100852	Abnormal fear/anxiety-related behavior	23126	POGZ	OMIM:616364
HP:0100852	Abnormal fear/anxiety-related behavior	57680	CHD8	OMIM:615032
HP:0100852	Abnormal fear/anxiety-related behavior	5063	PAK3	OMIM:300558
HP:0100852	Abnormal fear/anxiety-related behavior	54902	TTC19	OMIM:615157
HP:0100852	Abnormal fear/anxiety-related behavior	6804	STX1A	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	6804	STX1A	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	7461	CLIP2	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	84277	DNAJC30	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	8468	FKBP6	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	5982	RFC2	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	2969	GTF2I	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	3984	LIMK1	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	9569	GTF2IRD1	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	155382	VPS37D	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	155368	METTL27	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	114049	BUD23	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	7458	EIF4H	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	84163	GTF2IRD2	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	9275	BCL7B	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	26608	TBL2	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	653361	NCF1	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	135886	TMEM270	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	51085	MLXIPL	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	51085	MLXIPL	OMIM:194050
HP:0100852	Abnormal fear/anxiety-related behavior	9031	BAZ1B	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	2006	ELN	ORPHA:904
HP:0100852	Abnormal fear/anxiety-related behavior	2006	ELN	OMIM:194050
HP:0100852	Abnormal fear/anxiety-related behavior	6899	TBX1	ORPHA:1727
HP:0100852	Abnormal fear/anxiety-related behavior	6899	TBX1	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	4784	NFIX	ORPHA:420179
HP:0100852	Abnormal fear/anxiety-related behavior	4784	NFIX	OMIM:614753
HP:0100852	Abnormal fear/anxiety-related behavior	54499	TMCO1	OMIM:213980
HP:0100852	Abnormal fear/anxiety-related behavior	8659	ALDH4A1	ORPHA:79101
HP:0100852	Abnormal fear/anxiety-related behavior	1859	DYRK1A	ORPHA:464311
HP:0100852	Abnormal fear/anxiety-related behavior	1859	DYRK1A	ORPHA:268261
HP:0100852	Abnormal fear/anxiety-related behavior	51284	TLR7	OMIM:301080
HP:0100852	Abnormal fear/anxiety-related behavior	23137	SMC5	OMIM:620185
HP:0100852	Abnormal fear/anxiety-related behavior	55343	SLC35C1	OMIM:266265
HP:0100852	Abnormal fear/anxiety-related behavior	111	ADCY5	OMIM:606703
HP:0100852	Abnormal fear/anxiety-related behavior	111	ADCY5	OMIM:619651
HP:0100852	Abnormal fear/anxiety-related behavior	2947	GSTM3	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	7040	TGFB1	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	2729	GCLC	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	1084	CEACAM3	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	6556	SLC11A1	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	51164	DCTN4	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	3783	KCNN4	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	4282	MIF	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	1909	EDNRA	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	6550	SLC9A3	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	3162	HMOX1	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	115019	SLC26A9	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	3077	HFE	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	11254	SLC6A14	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	5265	SERPINA1	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	1080	CFTR	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	22802	CLCA4	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	4680	CEACAM6	ORPHA:586
HP:0100852	Abnormal fear/anxiety-related behavior	26137	ZBTB20	OMIM:259050
HP:0100852	Abnormal fear/anxiety-related behavior	27086	FOXP1	ORPHA:391372
HP:0100852	Abnormal fear/anxiety-related behavior	27086	FOXP1	OMIM:613670
HP:0100852	Abnormal fear/anxiety-related behavior	5594	MAPK1	OMIM:619087
HP:0100852	Abnormal fear/anxiety-related behavior	6942	TCF20	OMIM:618430
HP:0100852	Abnormal fear/anxiety-related behavior	200424	TET3	OMIM:618798
HP:0100852	Abnormal fear/anxiety-related behavior	10430	TMEM147	OMIM:620075
HP:0100852	Abnormal fear/anxiety-related behavior	4854	NOTCH3	ORPHA:136
HP:0100852	Abnormal fear/anxiety-related behavior	51322	WAC	ORPHA:284169
HP:0100852	Abnormal fear/anxiety-related behavior	51322	WAC	OMIM:616708
HP:0100852	Abnormal fear/anxiety-related behavior	51322	WAC	ORPHA:466950
HP:0100852	Abnormal fear/anxiety-related behavior	11152	WDR45	OMIM:300894
HP:0100852	Abnormal fear/anxiety-related behavior	54941	RNF125	OMIM:616260
HP:0100852	Abnormal fear/anxiety-related behavior	7415	VCP	ORPHA:329478
HP:0100852	Abnormal fear/anxiety-related behavior	7415	VCP	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	7415	VCP	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	340024	SLC6A19	ORPHA:2116
HP:0100852	Abnormal fear/anxiety-related behavior	57393	CLTRN	ORPHA:2116
HP:0100852	Abnormal fear/anxiety-related behavior	57479	PRR12	OMIM:619539
HP:0100852	Abnormal fear/anxiety-related behavior	162417	NAGS	ORPHA:927
HP:0100852	Abnormal fear/anxiety-related behavior	3458	IFNG	ORPHA:805
HP:0100852	Abnormal fear/anxiety-related behavior	7248	TSC1	ORPHA:805
HP:0100852	Abnormal fear/anxiety-related behavior	7249	TSC2	ORPHA:805
HP:0100852	Abnormal fear/anxiety-related behavior	51574	LARP7	ORPHA:319671
HP:0100852	Abnormal fear/anxiety-related behavior	51574	LARP7	OMIM:615071
HP:0100852	Abnormal fear/anxiety-related behavior	25978	CHMP2B	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	25978	CHMP2B	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	3178	HNRNPA1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	8148	TAF15	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	5445	PON2	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	9217	VAPB	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	8878	SQSTM1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	5630	PRPH	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	29110	TBK1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	55830	GLT8D1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	755	CFAP410	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	10891	PPARGC1A	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	6647	SOD1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	10133	OPTN	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	1639	DCTN1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	1639	DCTN1	OMIM:168605
HP:0100852	Abnormal fear/anxiety-related behavior	5444	PON1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	5446	PON3	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	4744	NEFH	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	5216	PFN1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	9782	MATR3	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	54209	TREM2	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	54209	TREM2	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	283	ANG	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	23435	TARDBP	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	29978	UBQLN2	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	2733	GLE1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	2521	FUS	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	4750	NEK1	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	2043	EPHA4	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	6311	ATXN2	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	1610	DAO	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	2066	ERBB4	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	311	ANXA11	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	23025	UNC13A	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	899	CCNF	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	400916	CHCHD10	ORPHA:803
HP:0100852	Abnormal fear/anxiety-related behavior	27286	SRPX2	ORPHA:1945
HP:0100852	Abnormal fear/anxiety-related behavior	2778	GNAS	ORPHA:79443
HP:0100852	Abnormal fear/anxiety-related behavior	2778	GNAS	ORPHA:79444
HP:0100852	Abnormal fear/anxiety-related behavior	2778	GNAS	OMIM:219080
HP:0100852	Abnormal fear/anxiety-related behavior	2778	GNAS	ORPHA:94089
HP:0100852	Abnormal fear/anxiety-related behavior	3339	HSPG2	ORPHA:800
HP:0100852	Abnormal fear/anxiety-related behavior	84978	FRMD5	OMIM:620094
HP:0100852	Abnormal fear/anxiety-related behavior	5654	HTRA1	OMIM:600142
HP:0100852	Abnormal fear/anxiety-related behavior	11277	TREX1	ORPHA:247691
HP:0100852	Abnormal fear/anxiety-related behavior	80199	FUZ	ORPHA:1136
HP:0100852	Abnormal fear/anxiety-related behavior	11232	POLG2	OMIM:619425
HP:0100852	Abnormal fear/anxiety-related behavior	11232	POLG2	ORPHA:254892
HP:0100852	Abnormal fear/anxiety-related behavior	1642	DDB1	OMIM:619426
HP:0100852	Abnormal fear/anxiety-related behavior	196528	ARID2	OMIM:617808
HP:0100852	Abnormal fear/anxiety-related behavior	1801	DPH1	ORPHA:459061
HP:0100852	Abnormal fear/anxiety-related behavior	5663	PSEN1	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	2896	GRN	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	54664	TMEM106B	ORPHA:100070
HP:0100852	Abnormal fear/anxiety-related behavior	1203	CLN5	ORPHA:228360
HP:0100852	Abnormal fear/anxiety-related behavior	291	SLC25A4	ORPHA:254892
HP:0100852	Abnormal fear/anxiety-related behavior	5428	POLG	ORPHA:254892
HP:0100852	Abnormal fear/anxiety-related behavior	56652	TWNK	ORPHA:254892
HP:0100852	Abnormal fear/anxiety-related behavior	81848	SPRY4	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	128674	PROKR2	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	60675	PROK2	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	55636	CHD7	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	6870	TACR3	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	1848	DUSP6	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	26012	NSMF	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	55717	WDR11	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	9394	HS6ST1	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	2796	GNRH1	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	2798	GNRHR	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	84634	KISS1R	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	6866	TAC3	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	8822	FGF17	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	3814	KISS1	ORPHA:432
HP:0100852	Abnormal fear/anxiety-related behavior	57526	PCDH19	ORPHA:101039
HP:0100852	Abnormal fear/anxiety-related behavior	57526	PCDH19	ORPHA:33069
HP:0100852	Abnormal fear/anxiety-related behavior	4558	MT-TF	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4572	MT-TQ	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4512	MT-CO1	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4513	MT-CO2	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4514	MT-CO3	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4578	MT-TW	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4540	MT-ND5	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4541	MT-ND6	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4535	MT-ND1	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4538	MT-ND4	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4567	MT-TL1	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4574	MT-TS1	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4575	MT-TS2	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	4575	MT-TS2	ORPHA:231183
HP:0100852	Abnormal fear/anxiety-related behavior	4564	MT-TH	ORPHA:550
HP:0100852	Abnormal fear/anxiety-related behavior	7080	NKX2-1	OMIM:118700
HP:0100852	Abnormal fear/anxiety-related behavior	11133	KPTN	OMIM:615637
HP:0100852	Abnormal fear/anxiety-related behavior	11133	KPTN	ORPHA:397612
HP:0100852	Abnormal fear/anxiety-related behavior	2767	GNA11	ORPHA:428
HP:0100852	Abnormal fear/anxiety-related behavior	846	CASR	ORPHA:428
HP:0100852	Abnormal fear/anxiety-related behavior	79813	EHMT1	ORPHA:96147
HP:0100852	Abnormal fear/anxiety-related behavior	8675	STX16	ORPHA:94089
HP:0100852	Abnormal fear/anxiety-related behavior	26115	TANC2	OMIM:618906
HP:0100852	Abnormal fear/anxiety-related behavior	23114	NFASC	OMIM:618356
HP:0100852	Abnormal fear/anxiety-related behavior	2782	GNB1	OMIM:616973
HP:0100852	Abnormal fear/anxiety-related behavior	23314	SATB2	ORPHA:251019
HP:0100852	Abnormal fear/anxiety-related behavior	5053	PAH	OMIM:261600
HP:0100852	Abnormal fear/anxiety-related behavior	3097	HIVEP2	OMIM:616977
HP:0100852	Abnormal fear/anxiety-related behavior	4952	OCRL	ORPHA:534
HP:0100852	Abnormal fear/anxiety-related behavior	2592	GALT	ORPHA:79239
HP:0100852	Abnormal fear/anxiety-related behavior	55777	MBD5	OMIM:156200
HP:0100852	Abnormal fear/anxiety-related behavior	51132	RLIM	OMIM:300978
HP:0100852	Abnormal fear/anxiety-related behavior	24140	FTSJ1	OMIM:309549
HP:0100852	Abnormal fear/anxiety-related behavior	7468	NSD2	OMIM:619695
HP:0100852	Abnormal fear/anxiety-related behavior	1737	DLAT	ORPHA:79244
HP:0100852	Abnormal fear/anxiety-related behavior	1312	COMT	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	1312	COMT	OMIM:167870
HP:0100852	Abnormal fear/anxiety-related behavior	221037	JMJD1C	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	2812	GP1BB	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	6239	RREB1	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	7290	HIRA	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	9632	SEC24C	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	7353	UFD1	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	421	ARVCF	ORPHA:567
HP:0100852	Abnormal fear/anxiety-related behavior	2717	GLA	ORPHA:324
HP:0100852	Abnormal fear/anxiety-related behavior	1000	CDH2	OMIM:618929
HP:0100852	Abnormal fear/anxiety-related behavior	2898	GRIK2	OMIM:619580
HP:0100852	Abnormal fear/anxiety-related behavior	1137	CHRNA4	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	1135	CHRNA2	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	57010	CABP4	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	1141	CHRNB2	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	57582	KCNT1	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	1392	CRH	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	9681	DEPDC5	ORPHA:98784
HP:0100852	Abnormal fear/anxiety-related behavior	23258	DENND5A	OMIM:617281
HP:0100852	Abnormal fear/anxiety-related behavior	164	AP1G1	OMIM:619467
HP:0100852	Abnormal fear/anxiety-related behavior	5718	PSMD12	ORPHA:529962
HP:0100852	Abnormal fear/anxiety-related behavior	2186	BPTF	ORPHA:529962
HP:0100852	Abnormal fear/anxiety-related behavior	26040	SETBP1	OMIM:616078
HP:0100852	Abnormal fear/anxiety-related behavior	3188	HNRNPH2	OMIM:300986
HP:0100852	Abnormal fear/anxiety-related behavior	23152	CIC	OMIM:617600
HP:0100852	Abnormal fear/anxiety-related behavior	10046	MAMLD1	ORPHA:95706
HP:0100852	Abnormal fear/anxiety-related behavior	367	AR	ORPHA:95706
HP:0100852	Abnormal fear/anxiety-related behavior	57187	THOC2	ORPHA:457240
HP:0100852	Abnormal fear/anxiety-related behavior	57187	THOC2	OMIM:300957
HP:0100852	Abnormal fear/anxiety-related behavior	6638	SNRPN	ORPHA:177907
HP:0100852	Abnormal fear/anxiety-related behavior	5498	PPOX	ORPHA:79473
HP:0100852	Abnormal fear/anxiety-related behavior	773	CACNA1A	OMIM:141500
HP:0100852	Abnormal fear/anxiety-related behavior	23476	BRD4	ORPHA:199
HP:0100852	Abnormal fear/anxiety-related behavior	9126	SMC3	ORPHA:199
HP:0100852	Abnormal fear/anxiety-related behavior	25836	NIPBL	ORPHA:199
HP:0100852	Abnormal fear/anxiety-related behavior	55869	HDAC8	ORPHA:199
HP:0100852	Abnormal fear/anxiety-related behavior	5885	RAD21	ORPHA:199
HP:0100852	Abnormal fear/anxiety-related behavior	57338	JPH3	OMIM:606438
HP:0100852	Abnormal fear/anxiety-related behavior	9757	KMT2B	ORPHA:589618
HP:0100852	Abnormal fear/anxiety-related behavior	7399	USH2A	ORPHA:231178
HP:0100852	Abnormal fear/anxiety-related behavior	79955	PDZD7	ORPHA:231178
HP:0100852	Abnormal fear/anxiety-related behavior	4647	MYO7A	ORPHA:231178
HP:0100852	Abnormal fear/anxiety-related behavior	4647	MYO7A	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	25861	WHRN	ORPHA:231178
HP:0100852	Abnormal fear/anxiety-related behavior	6711	SPTBN1	OMIM:619475
HP:0100852	Abnormal fear/anxiety-related behavior	2643	GCH1	ORPHA:98808
HP:0100852	Abnormal fear/anxiety-related behavior	4929	NR4A2	ORPHA:98808
HP:0100852	Abnormal fear/anxiety-related behavior	3615	IMPDH2	ORPHA:98808
HP:0100852	Abnormal fear/anxiety-related behavior	4221	MEN1	ORPHA:97279
HP:0100852	Abnormal fear/anxiety-related behavior	63932	STEEP1	OMIM:301013
HP:0100852	Abnormal fear/anxiety-related behavior	7504	XK	OMIM:300842
HP:0100852	Abnormal fear/anxiety-related behavior	6872	TAF1	OMIM:300966
HP:0100852	Abnormal fear/anxiety-related behavior	23067	SETD1B	OMIM:619000
HP:0100852	Abnormal fear/anxiety-related behavior	5500	PPP1CB	OMIM:617506
HP:0100852	Abnormal fear/anxiety-related behavior	55164	SHQ1	OMIM:619922
HP:0100852	Abnormal fear/anxiety-related behavior	3145	HMBS	OMIM:176000
HP:0100852	Abnormal fear/anxiety-related behavior	3145	HMBS	ORPHA:79276
HP:0100852	Abnormal fear/anxiety-related behavior	7401	CLRN1	ORPHA:231183
HP:0100852	Abnormal fear/anxiety-related behavior	22901	ARSG	ORPHA:231183
HP:0100852	Abnormal fear/anxiety-related behavior	3035	HARS1	ORPHA:231183
HP:0100852	Abnormal fear/anxiety-related behavior	84131	CEP78	ORPHA:231183
HP:0100852	Abnormal fear/anxiety-related behavior	407975	MIR17HG	ORPHA:391646
HP:0100852	Abnormal fear/anxiety-related behavior	595	CCND1	ORPHA:892
HP:0100852	Abnormal fear/anxiety-related behavior	4841	NONO	ORPHA:466791
HP:0100852	Abnormal fear/anxiety-related behavior	10846	PDE10A	ORPHA:494541
HP:0100852	Abnormal fear/anxiety-related behavior	10084	PQBP1	OMIM:309500
HP:0100852	Abnormal fear/anxiety-related behavior	9320	TRIP12	OMIM:617752
HP:0100852	Abnormal fear/anxiety-related behavior	4781	NFIB	OMIM:618286
HP:0100852	Abnormal fear/anxiety-related behavior	55023	PHIP	OMIM:617991
HP:0100852	Abnormal fear/anxiety-related behavior	51317	PHF21A	OMIM:618725
HP:0100852	Abnormal fear/anxiety-related behavior	203190	LGI3	OMIM:620007
HP:0100852	Abnormal fear/anxiety-related behavior	6532	SLC6A4	OMIM:164230
HP:0100852	Abnormal fear/anxiety-related behavior	3356	HTR2A	OMIM:164230
HP:0100852	Abnormal fear/anxiety-related behavior	4693	NDP	ORPHA:649
HP:0100852	Abnormal fear/anxiety-related behavior	1371	CPOX	OMIM:121300
HP:0100852	Abnormal fear/anxiety-related behavior	11011	TLK2	OMIM:618050
HP:0100852	Abnormal fear/anxiety-related behavior	10083	USH1C	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	124590	USH1G	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	83715	ESPN	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	10518	CIB2	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	65217	PCDH15	ORPHA:231169
HP:0100852	Abnormal fear/anxiety-related behavior	2182	ACSL4	OMIM:300387
HP:0100852	Abnormal fear/anxiety-related behavior	9699	RIMS2	OMIM:618970
HP:0100852	Abnormal fear/anxiety-related behavior	284361	EMC10	OMIM:619264
HP:0100852	Abnormal fear/anxiety-related behavior	2328	FMO3	ORPHA:468726
HP:0100852	Abnormal fear/anxiety-related behavior	3480	IGF1R	OMIM:270450
HP:0100852	Abnormal fear/anxiety-related behavior	25792	CIZ1	ORPHA:420492
HP:0100852	Abnormal fear/anxiety-related behavior	6792	CDKL5	ORPHA:3095
HP:0100852	Abnormal fear/anxiety-related behavior	22854	NTNG1	ORPHA:3095
HP:0100852	Abnormal fear/anxiety-related behavior	9568	GABBR2	ORPHA:3095
HP:0100852	Abnormal fear/anxiety-related behavior	8243	SMC1A	ORPHA:3095
HP:0100852	Abnormal fear/anxiety-related behavior	23111	SPART	ORPHA:101000
HP:0100852	Abnormal fear/anxiety-related behavior	84196	USP48	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	7157	TP53	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	7157	TP53	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	64072	CDH23	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	2908	NR3C1	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	673	BRAF	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	546	ATRX	ORPHA:96253
HP:0100852	Abnormal fear/anxiety-related behavior	1813	DRD2	ORPHA:36899
HP:0100852	Abnormal fear/anxiety-related behavior	8910	SGCE	ORPHA:36899
HP:0100852	Abnormal fear/anxiety-related behavior	8910	SGCE	OMIM:159900
HP:0100852	Abnormal fear/anxiety-related behavior	79734	KCTD17	ORPHA:36899
HP:0100852	Abnormal fear/anxiety-related behavior	1861	TOR1A	ORPHA:36899
HP:0100852	Abnormal fear/anxiety-related behavior	23384	SPECC1L	OMIM:145420
HP:0100852	Abnormal fear/anxiety-related behavior	7428	VHL	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	7428	VHL	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	1743	DLST	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	4191	MDH2	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	5979	RET	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	5979	RET	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	6389	SDHA	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	23095	KIF1B	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	2271	FH	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	8402	SLC25A11	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	54949	SDHAF2	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	55654	TMEM127	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	4763	NF1	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	6391	SDHC	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	6392	SDHD	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	6392	SDHD	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	6390	SDHB	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	6390	SDHB	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	4149	MAX	ORPHA:29072
HP:0100852	Abnormal fear/anxiety-related behavior	54832	VPS13C	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	11315	PARK7	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	7345	UCHL1	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	27429	HTRA2	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	120892	LRRK2	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	9829	DNAJC6	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	6622	SNCA	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	5420	PODXL	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	65018	PINK1	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	8867	SYNJ1	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	5071	PRKN	ORPHA:2828
HP:0100852	Abnormal fear/anxiety-related behavior	3781	KCNN2	OMIM:619725
HP:0100852	Abnormal fear/anxiety-related behavior	1788	DNMT3A	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	2034	EPAS1	ORPHA:276621
HP:0100852	Abnormal fear/anxiety-related behavior	84133	ZNRF3	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	5573	PRKAR1A	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	1499	CTNNB1	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	1029	CDKN2A	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	7015	TERT	ORPHA:1501
HP:0100852	Abnormal fear/anxiety-related behavior	1387	CREBBP	ORPHA:353277
HP:0100852	Abnormal fear/anxiety-related behavior	1387	CREBBP	ORPHA:353281
HP:0100852	Abnormal fear/anxiety-related behavior	9049	AIP	OMIM:219090
HP:0100852	Abnormal fear/anxiety-related behavior	9101	USP8	OMIM:219090
HP:0100852	Abnormal fear/anxiety-related behavior	2033	EP300	ORPHA:353284
HP:0100852	Abnormal fear/anxiety-related behavior	9896	FIG4	ORPHA:208441
HP:0100852	Abnormal fear/anxiety-related behavior	4204	MECP2	ORPHA:3077
HP:0100852	Abnormal fear/anxiety-related behavior	210	ALAD	ORPHA:100924
HP:0100852	Abnormal fear/anxiety-related behavior	2760	GM2A	ORPHA:309246
HP:0100857	Flat sella turcica	5832	ALDH18A1	OMIM:616603
HP:0100857	Flat sella turcica	2316	FLNA	OMIM:304120
HP:0100858	Dilatation of celiac artery	2022	ENG	OMIM:187300
HP:0100858	Dilatation of celiac artery	1289	COL5A1	OMIM:619329
HP:0100856	Poorly ossified vertebrae	6662	SOX9	ORPHA:140
HP:0100856	Poorly ossified vertebrae	6662	SOX9	OMIM:114290
HP:0100856	Poorly ossified vertebrae	2317	FLNB	ORPHA:1263
HP:0100856	Poorly ossified vertebrae	57020	VPS35L	OMIM:619135
HP:0011325	Pansynostosis	2077	ERF	OMIM:600775
HP:0011325	Pansynostosis	7291	TWIST1	OMIM:180750
HP:0011324	Multiple suture craniosynostosis	2263	FGFR2	ORPHA:207
HP:0011324	Multiple suture craniosynostosis	1312	COMT	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	221037	JMJD1C	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	2812	GP1BB	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	6239	RREB1	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	6899	TBX1	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	7290	HIRA	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	9632	SEC24C	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	7353	UFD1	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	421	ARVCF	ORPHA:567
HP:0011324	Multiple suture craniosynostosis	2077	ERF	OMIM:600775
HP:0011324	Multiple suture craniosynostosis	7291	TWIST1	OMIM:180750
HP:0011323	Cleft of chin	7020	TFAP2A	OMIM:113620
HP:0011323	Cleft of chin	7291	TWIST1	OMIM:101400
HP:0011323	Cleft of chin	2263	FGFR2	OMIM:101400
HP:0011322	Right unilambdoid synostosis	7545	ZIC1	OMIM:616602
HP:0011329	Abnormality of cranial sutures	9791	PTDSS1	OMIM:151050
HP:0011329	Abnormality of cranial sutures	9791	PTDSS1	ORPHA:2658
HP:0011329	Abnormality of cranial sutures	538	ATP7A	ORPHA:198
HP:0011329	Abnormality of cranial sutures	10269	ZMPSTE24	OMIM:608612
HP:0011329	Abnormality of cranial sutures	5626	PROP1	ORPHA:226307
HP:0011329	Abnormality of cranial sutures	89884	LHX4	ORPHA:226307
HP:0011329	Abnormality of cranial sutures	8022	LHX3	ORPHA:226307
HP:0011329	Abnormality of cranial sutures	5449	POU1F1	ORPHA:226307
HP:0011329	Abnormality of cranial sutures	5449	POU1F1	OMIM:613038
HP:0011329	Abnormality of cranial sutures	8820	HESX1	ORPHA:226307
HP:0011329	Abnormality of cranial sutures	1387	CREBBP	OMIM:180849
HP:0011329	Abnormality of cranial sutures	2033	EP300	OMIM:180849
HP:0011329	Abnormality of cranial sutures	5832	ALDH18A1	OMIM:616603
HP:0011329	Abnormality of cranial sutures	5832	ALDH18A1	ORPHA:90348
HP:0011329	Abnormality of cranial sutures	5590	PRKCZ	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	2563	GABRD	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	23013	SPEN	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	8510	MMP23B	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	7798	LUZP1	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	10630	PDPN	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	3339	HSPG2	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	10277	UBE4B	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	8514	KCNAB2	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	473	RERE	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	63976	PRDM16	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	54897	CASZ1	ORPHA:1606
HP:0011329	Abnormality of cranial sutures	285590	SH3PXD2B	OMIM:249420
HP:0011329	Abnormality of cranial sutures	5159	PDGFRB	OMIM:601812
HP:0011329	Abnormality of cranial sutures	10651	MTX2	OMIM:619127
HP:0011329	Abnormality of cranial sutures	4920	ROR2	OMIM:113000
HP:0011329	Abnormality of cranial sutures	4920	ROR2	OMIM:268310
HP:0011329	Abnormality of cranial sutures	4000	LMNA	OMIM:248370
HP:0011329	Abnormality of cranial sutures	56975	FAM20C	ORPHA:1832
HP:0011329	Abnormality of cranial sutures	7252	TSHB	ORPHA:90674
HP:0011329	Abnormality of cranial sutures	54941	RNF125	OMIM:616260
HP:0011329	Abnormality of cranial sutures	405753	DUOXA2	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	6528	SLC5A5	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	7038	TG	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	7173	TPO	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	389434	IYD	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	50506	DUOX2	ORPHA:95716
HP:0011329	Abnormality of cranial sutures	7874	USP7	OMIM:616863
HP:0011329	Abnormality of cranial sutures	10491	CRTAP	OMIM:610682
HP:0011329	Abnormality of cranial sutures	2006	ELN	ORPHA:90348
HP:0011329	Abnormality of cranial sutures	10516	FBLN5	ORPHA:90348
HP:0011329	Abnormality of cranial sutures	10516	FBLN5	ORPHA:90349
HP:0011329	Abnormality of cranial sutures	30008	EFEMP2	ORPHA:90349
HP:0011329	Abnormality of cranial sutures	3295	HSD17B4	OMIM:261515
HP:0011329	Abnormality of cranial sutures	6223	RPS19	OMIM:105650
HP:0011329	Abnormality of cranial sutures	129285	PPP1R21	OMIM:619383
HP:0011329	Abnormality of cranial sutures	1656	DDX6	OMIM:618653
HP:0011329	Abnormality of cranial sutures	2137	EXTL3	ORPHA:508533
HP:0011329	Abnormality of cranial sutures	4088	SMAD3	ORPHA:284984
HP:0011329	Abnormality of cranial sutures	4088	SMAD3	OMIM:613795
HP:0011329	Abnormality of cranial sutures	7528	YY1	ORPHA:506358
HP:0011329	Abnormality of cranial sutures	64116	SLC39A8	OMIM:616721
HP:0011329	Abnormality of cranial sutures	64116	SLC39A8	ORPHA:468699
HP:0011329	Abnormality of cranial sutures	10312	TCIRG1	OMIM:259700
HP:0011329	Abnormality of cranial sutures	10312	TCIRG1	ORPHA:667
HP:0011329	Abnormality of cranial sutures	7355	SLC35A2	ORPHA:356961
HP:0011329	Abnormality of cranial sutures	57539	WDR35	OMIM:613610
HP:0011329	Abnormality of cranial sutures	57539	WDR35	ORPHA:1515
HP:0011329	Abnormality of cranial sutures	89970	RSPRY1	OMIM:616723
HP:0011329	Abnormality of cranial sutures	89970	RSPRY1	ORPHA:457395
HP:0011329	Abnormality of cranial sutures	26115	TANC2	OMIM:618906
HP:0011329	Abnormality of cranial sutures	64324	NSD1	ORPHA:821
HP:0011329	Abnormality of cranial sutures	29072	SETD2	ORPHA:821
HP:0011329	Abnormality of cranial sutures	10297	APC2	ORPHA:821
HP:0011329	Abnormality of cranial sutures	1186	CLCN7	ORPHA:667
HP:0011329	Abnormality of cranial sutures	29887	SNX10	ORPHA:667
HP:0011329	Abnormality of cranial sutures	8600	TNFSF11	ORPHA:667
HP:0011329	Abnormality of cranial sutures	55593	OTUD5	OMIM:301056
HP:0011329	Abnormality of cranial sutures	4125	MAN2B1	ORPHA:309282
HP:0011329	Abnormality of cranial sutures	4774	NFIA	ORPHA:401986
HP:0011329	Abnormality of cranial sutures	249	ALPL	OMIM:241500
HP:0011329	Abnormality of cranial sutures	249	ALPL	OMIM:241510
HP:0011329	Abnormality of cranial sutures	91179	SCARF2	OMIM:600920
HP:0011329	Abnormality of cranial sutures	2737	GLI3	ORPHA:380
HP:0011329	Abnormality of cranial sutures	2737	GLI3	OMIM:175700
HP:0011329	Abnormality of cranial sutures	27245	AHDC1	ORPHA:412069
HP:0011329	Abnormality of cranial sutures	10157	AASS	ORPHA:2203
HP:0011329	Abnormality of cranial sutures	79158	GNPTAB	OMIM:252500
HP:0011329	Abnormality of cranial sutures	79158	GNPTAB	ORPHA:576
HP:0011329	Abnormality of cranial sutures	79158	GNPTAB	OMIM:252600
HP:0011329	Abnormality of cranial sutures	51098	IFT52	ORPHA:1515
HP:0011329	Abnormality of cranial sutures	4784	NFIX	OMIM:602535
HP:0011329	Abnormality of cranial sutures	4784	NFIX	ORPHA:561
HP:0011329	Abnormality of cranial sutures	284058	KANSL1	ORPHA:363958
HP:0011329	Abnormality of cranial sutures	284058	KANSL1	ORPHA:363965
HP:0011329	Abnormality of cranial sutures	4052	LTBP1	OMIM:619451
HP:0011329	Abnormality of cranial sutures	9739	SETD1A	OMIM:619056
HP:0011329	Abnormality of cranial sutures	10265	IRX5	OMIM:611174
HP:0011329	Abnormality of cranial sutures	113189	CHST14	ORPHA:2953
HP:0011329	Abnormality of cranial sutures	29940	DSE	ORPHA:2953
HP:0011329	Abnormality of cranial sutures	6774	STAT3	ORPHA:2314
HP:0011329	Abnormality of cranial sutures	6774	STAT3	OMIM:147060
HP:0011329	Abnormality of cranial sutures	7994	KAT6A	ORPHA:457193
HP:0011329	Abnormality of cranial sutures	7994	KAT6A	OMIM:616268
HP:0011329	Abnormality of cranial sutures	3572	IL6ST	OMIM:618523
HP:0011329	Abnormality of cranial sutures	4091	SMAD6	OMIM:617439
HP:0011329	Abnormality of cranial sutures	81620	CDT1	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	5000	ORC4	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	23594	ORC6	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	990	CDC6	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	4998	ORC1	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	51053	GMNN	ORPHA:2554
HP:0011329	Abnormality of cranial sutures	29968	PSAT1	ORPHA:284417
HP:0011329	Abnormality of cranial sutures	1009	CDH11	ORPHA:1299
HP:0011329	Abnormality of cranial sutures	1954	MEGF8	OMIM:614976
HP:0011329	Abnormality of cranial sutures	1954	MEGF8	ORPHA:65759
HP:0011329	Abnormality of cranial sutures	1028	CDKN1C	OMIM:614732
HP:0011329	Abnormality of cranial sutures	2200	FBN1	OMIM:616914
HP:0011329	Abnormality of cranial sutures	2200	FBN1	ORPHA:2462
HP:0011329	Abnormality of cranial sutures	29980	DONSON	OMIM:251230
HP:0011329	Abnormality of cranial sutures	3981	LIG4	ORPHA:235
HP:0011329	Abnormality of cranial sutures	54888	NSUN2	ORPHA:235
HP:0011329	Abnormality of cranial sutures	11285	B4GALT7	OMIM:130070
HP:0011329	Abnormality of cranial sutures	5251	PHEX	ORPHA:89936
HP:0011329	Abnormality of cranial sutures	26038	CHD5	OMIM:619873
HP:0011329	Abnormality of cranial sutures	10664	CTCF	ORPHA:363611
HP:0011329	Abnormality of cranial sutures	149371	EXOC8	OMIM:619076
HP:0011329	Abnormality of cranial sutures	4041	LRP5	ORPHA:178377
HP:0011329	Abnormality of cranial sutures	145173	B3GLCT	OMIM:261540
HP:0011329	Abnormality of cranial sutures	5530	PPP3CA	OMIM:618265
HP:0011329	Abnormality of cranial sutures	92002	CCNQ	OMIM:300707
HP:0011329	Abnormality of cranial sutures	9508	ADAMTS3	ORPHA:2136
HP:0011329	Abnormality of cranial sutures	79633	FAT4	ORPHA:2136
HP:0011329	Abnormality of cranial sutures	10283	CWC27	OMIM:250410
HP:0011329	Abnormality of cranial sutures	10283	CWC27	ORPHA:166035
HP:0011329	Abnormality of cranial sutures	81031	SLC2A10	ORPHA:3342
HP:0011329	Abnormality of cranial sutures	54499	TMCO1	OMIM:213980
HP:0011329	Abnormality of cranial sutures	25914	RTTN	ORPHA:468631
HP:0011329	Abnormality of cranial sutures	157570	ESCO2	ORPHA:3103
HP:0011329	Abnormality of cranial sutures	157570	ESCO2	OMIM:268300
HP:0011329	Abnormality of cranial sutures	2317	FLNB	ORPHA:503
HP:0011329	Abnormality of cranial sutures	5728	PTEN	ORPHA:744
HP:0011329	Abnormality of cranial sutures	207	AKT1	ORPHA:744
HP:0011329	Abnormality of cranial sutures	78989	COLEC11	OMIM:265050
HP:0011329	Abnormality of cranial sutures	78989	COLEC11	ORPHA:293843
HP:0011329	Abnormality of cranial sutures	4094	MAF	ORPHA:1272
HP:0011329	Abnormality of cranial sutures	374879	ZNF699	OMIM:619488
HP:0011329	Abnormality of cranial sutures	9702	CEP57	OMIM:614114
HP:0011329	Abnormality of cranial sutures	5500	PPP1CB	OMIM:617506
HP:0011329	Abnormality of cranial sutures	6497	SKI	OMIM:182212
HP:0011329	Abnormality of cranial sutures	6497	SKI	ORPHA:2462
HP:0011329	Abnormality of cranial sutures	126792	B3GALT6	ORPHA:536467
HP:0011329	Abnormality of cranial sutures	4621	MYH3	OMIM:178110
HP:0011329	Abnormality of cranial sutures	1758	DMP1	ORPHA:289176
HP:0011329	Abnormality of cranial sutures	1758	DMP1	OMIM:241520
HP:0011329	Abnormality of cranial sutures	5167	ENPP1	ORPHA:289176
HP:0011329	Abnormality of cranial sutures	7048	TGFBR2	OMIM:610168
HP:0011329	Abnormality of cranial sutures	7048	TGFBR2	ORPHA:60030
HP:0011329	Abnormality of cranial sutures	545	ATR	ORPHA:808
HP:0011329	Abnormality of cranial sutures	1062	CENPE	ORPHA:808
HP:0011329	Abnormality of cranial sutures	5116	PCNT	ORPHA:808
HP:0011329	Abnormality of cranial sutures	5932	RBBP8	ORPHA:808
HP:0011329	Abnormality of cranial sutures	79902	NUP85	ORPHA:808
HP:0011329	Abnormality of cranial sutures	84126	ATRIP	ORPHA:808
HP:0011329	Abnormality of cranial sutures	55835	CENPJ	ORPHA:808
HP:0011329	Abnormality of cranial sutures	10293	TRAIP	ORPHA:808
HP:0011329	Abnormality of cranial sutures	22995	CEP152	ORPHA:808
HP:0011329	Abnormality of cranial sutures	10733	PLK4	ORPHA:808
HP:0011329	Abnormality of cranial sutures	5557	PRIM1	OMIM:620005
HP:0011329	Abnormality of cranial sutures	10584	COLEC10	ORPHA:293843
HP:0011329	Abnormality of cranial sutures	6885	MAP3K7	ORPHA:1826
HP:0011329	Abnormality of cranial sutures	404672	GTF2H5	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	833	CARS1	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	2068	ERCC2	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	7737	RNF113A	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	136647	MPLKIP	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	6897	TARS1	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	2071	ERCC3	ORPHA:33364
HP:0011329	Abnormality of cranial sutures	23592	LEMD3	ORPHA:1306
HP:0011329	Abnormality of cranial sutures	11011	TLK2	OMIM:618050
HP:0011329	Abnormality of cranial sutures	9469	CHST3	OMIM:245600
HP:0011329	Abnormality of cranial sutures	26229	B3GAT3	OMIM:245600
HP:0011329	Abnormality of cranial sutures	11133	KPTN	ORPHA:397612
HP:0011329	Abnormality of cranial sutures	25970	SH2B1	ORPHA:261197
HP:0011329	Abnormality of cranial sutures	9742	IFT140	OMIM:266920
HP:0011329	Abnormality of cranial sutures	7046	TGFBR1	ORPHA:60030
HP:0011329	Abnormality of cranial sutures	7046	TGFBR1	OMIM:609192
HP:0011329	Abnormality of cranial sutures	10526	IPO8	ORPHA:60030
HP:0011329	Abnormality of cranial sutures	10082	GPC6	ORPHA:93329
HP:0011329	Abnormality of cranial sutures	4281	MID1	ORPHA:2745
HP:0011329	Abnormality of cranial sutures	9990	SLC12A6	ORPHA:1496
HP:0011329	Abnormality of cranial sutures	56603	CYP26B1	OMIM:614416
HP:0011329	Abnormality of cranial sutures	3852	KRT5	ORPHA:79396
HP:0011329	Abnormality of cranial sutures	3861	KRT14	ORPHA:79396
HP:0011329	Abnormality of cranial sutures	10075	HUWE1	OMIM:309590
HP:0011329	Abnormality of cranial sutures	139285	AMER1	OMIM:300373
HP:0011329	Abnormality of cranial sutures	6197	RPS6KA3	OMIM:303600
HP:0011329	Abnormality of cranial sutures	443	ASPA	OMIM:271900
HP:0011329	Abnormality of cranial sutures	6905	TBCE	OMIM:244460
HP:0011329	Abnormality of cranial sutures	9759	HDAC4	OMIM:619797
HP:0011329	Abnormality of cranial sutures	23545	ATP6V0A2	ORPHA:357074
HP:0011329	Abnormality of cranial sutures	23545	ATP6V0A2	ORPHA:2834
HP:0011329	Abnormality of cranial sutures	23545	ATP6V0A2	OMIM:278250
HP:0011329	Abnormality of cranial sutures	523	ATP6V1A	ORPHA:357074
HP:0011329	Abnormality of cranial sutures	529	ATP6V1E1	ORPHA:357074
HP:0011329	Abnormality of cranial sutures	54892	NCAPG2	OMIM:618460
HP:0011329	Abnormality of cranial sutures	84168	ANTXR1	OMIM:230740
HP:0011329	Abnormality of cranial sutures	8815	BANF1	OMIM:614008
HP:0011329	Abnormality of cranial sutures	5824	PEX19	OMIM:614886
HP:0011329	Abnormality of cranial sutures	5195	PEX14	OMIM:614887
HP:0011329	Abnormality of cranial sutures	63901	FAM111A	OMIM:127000
HP:0011329	Abnormality of cranial sutures	11128	POLR3A	OMIM:264090
HP:0011329	Abnormality of cranial sutures	4313	MMP2	OMIM:259600
HP:0011329	Abnormality of cranial sutures	2887	GRB10	ORPHA:96182
HP:0011329	Abnormality of cranial sutures	3481	IGF2	ORPHA:231140
HP:0011329	Abnormality of cranial sutures	283120	H19	ORPHA:231140
HP:0011329	Abnormality of cranial sutures	10484	SEC23A	OMIM:607812
HP:0011329	Abnormality of cranial sutures	1277	COL1A1	OMIM:130060
HP:0011329	Abnormality of cranial sutures	9509	ADAMTS2	OMIM:225410
HP:0011329	Abnormality of cranial sutures	7545	ZIC1	OMIM:618736
HP:0011329	Abnormality of cranial sutures	114548	NLRP3	ORPHA:1451
HP:0011329	Abnormality of cranial sutures	2316	FLNA	OMIM:311300
HP:0011329	Abnormality of cranial sutures	2316	FLNA	OMIM:304120
HP:0011329	Abnormality of cranial sutures	9968	MED12	OMIM:305450
HP:0011329	Abnormality of cranial sutures	9126	SMC3	OMIM:610759
HP:0011329	Abnormality of cranial sutures	9131	AIFM1	OMIM:300232
HP:0011329	Abnormality of cranial sutures	79879	CCDC134	OMIM:619795
HP:0011329	Abnormality of cranial sutures	23126	POGZ	OMIM:616364
HP:0011329	Abnormality of cranial sutures	5593	PRKG2	OMIM:619638
HP:0011329	Abnormality of cranial sutures	5352	PLOD2	ORPHA:2771
HP:0011329	Abnormality of cranial sutures	5352	PLOD2	OMIM:609220
HP:0011329	Abnormality of cranial sutures	60681	FKBP10	ORPHA:2771
HP:0011329	Abnormality of cranial sutures	60681	FKBP10	OMIM:610968
HP:0011329	Abnormality of cranial sutures	1278	COL1A2	OMIM:259420
HP:0011329	Abnormality of cranial sutures	1278	COL1A2	OMIM:617821
HP:0011329	Abnormality of cranial sutures	1278	COL1A2	OMIM:166210
HP:0011329	Abnormality of cranial sutures	1278	COL1A2	OMIM:166220
HP:0011329	Abnormality of cranial sutures	3248	HPGD	OMIM:259100
HP:0011329	Abnormality of cranial sutures	27125	AFF4	ORPHA:444077
HP:0011329	Abnormality of cranial sutures	221496	LEMD2	OMIM:619322
HP:0011329	Abnormality of cranial sutures	202018	TAPT1	OMIM:616897
HP:0011329	Abnormality of cranial sutures	388015	RTL1	ORPHA:96334
HP:0011329	Abnormality of cranial sutures	8788	DLK1	ORPHA:96334
HP:0011329	Abnormality of cranial sutures	55384	MEG3	ORPHA:96334
HP:0011329	Abnormality of cranial sutures	64175	P3H1	OMIM:610915
HP:0011329	Abnormality of cranial sutures	6335	SCN9A	ORPHA:970
HP:0011329	Abnormality of cranial sutures	65125	WNK1	ORPHA:970
HP:0011329	Abnormality of cranial sutures	54463	RETREG1	ORPHA:970
HP:0011329	Abnormality of cranial sutures	547	KIF1A	ORPHA:970
HP:0011329	Abnormality of cranial sutures	11014	KDELR2	OMIM:619131
HP:0011329	Abnormality of cranial sutures	55603	TENT5A	OMIM:617952
HP:0011329	Abnormality of cranial sutures	4853	NOTCH2	OMIM:102500
HP:0011329	Abnormality of cranial sutures	4853	NOTCH2	ORPHA:955
HP:0011329	Abnormality of cranial sutures	64919	BCL11B	OMIM:617237
HP:0011329	Abnormality of cranial sutures	1108	CHD4	OMIM:617159
HP:0011329	Abnormality of cranial sutures	5831	PYCR1	OMIM:612940
HP:0011329	Abnormality of cranial sutures	23184	MESD	OMIM:618644
HP:0011329	Abnormality of cranial sutures	90993	CREB3L1	OMIM:616229
HP:0011329	Abnormality of cranial sutures	5479	PPIB	OMIM:259440
HP:0011329	Abnormality of cranial sutures	92344	GORAB	OMIM:231070
HP:0011329	Abnormality of cranial sutures	387733	IFITM5	OMIM:610967
HP:0011329	Abnormality of cranial sutures	7067	THRA	OMIM:614450
HP:0011329	Abnormality of cranial sutures	51025	PAM16	OMIM:613320
HP:0011329	Abnormality of cranial sutures	649	BMP1	OMIM:614856
HP:0011329	Abnormality of cranial sutures	196528	ARID2	OMIM:617808
HP:0011329	Abnormality of cranial sutures	121340	SP7	OMIM:613849
HP:0011329	Abnormality of cranial sutures	1947	EFNB1	OMIM:304110
HP:0011329	Abnormality of cranial sutures	29957	SLC25A24	ORPHA:2095
HP:0011329	Abnormality of cranial sutures	29957	SLC25A24	OMIM:612289
HP:0011329	Abnormality of cranial sutures	5034	P4HB	OMIM:112240
HP:0011329	Abnormality of cranial sutures	2961	GTF2E2	OMIM:616943
HP:0011329	Abnormality of cranial sutures	2261	FGFR3	ORPHA:53271
HP:0011329	Abnormality of cranial sutures	2261	FGFR3	OMIM:602849
HP:0011329	Abnormality of cranial sutures	147372	CCBE1	OMIM:235510
HP:0011329	Abnormality of cranial sutures	1513	CTSK	ORPHA:763
HP:0011329	Abnormality of cranial sutures	60529	ALX4	ORPHA:228390
HP:0011329	Abnormality of cranial sutures	54928	BPNT2	OMIM:614078
HP:0011329	Abnormality of cranial sutures	2260	FGFR1	OMIM:101600
HP:0011329	Abnormality of cranial sutures	2260	FGFR1	OMIM:123150
HP:0011329	Abnormality of cranial sutures	5422	POLA1	ORPHA:163976
HP:0011329	Abnormality of cranial sutures	5977	DPF2	OMIM:618027
HP:0011329	Abnormality of cranial sutures	6651	SON	ORPHA:500150
HP:0011329	Abnormality of cranial sutures	6938	TCF12	OMIM:615314
HP:0011329	Abnormality of cranial sutures	1801	DPH1	OMIM:616901
HP:0011329	Abnormality of cranial sutures	1801	DPH1	ORPHA:459061
HP:0011329	Abnormality of cranial sutures	1788	DNMT3A	OMIM:615879
HP:0011329	Abnormality of cranial sutures	3845	KRAS	OMIM:609942
HP:0011329	Abnormality of cranial sutures	526	ATP6V1B2	ORPHA:79500
HP:0011329	Abnormality of cranial sutures	57465	TBC1D24	ORPHA:79500
HP:0011329	Abnormality of cranial sutures	55764	IFT122	OMIM:218330
HP:0011329	Abnormality of cranial sutures	8318	CDC45	OMIM:617063
HP:0011329	Abnormality of cranial sutures	112752	IFT43	OMIM:614099
HP:0011329	Abnormality of cranial sutures	57728	WDR19	OMIM:614378
HP:0011329	Abnormality of cranial sutures	23384	SPECC1L	OMIM:145420
HP:0011329	Abnormality of cranial sutures	169792	GLIS3	OMIM:610199
HP:0011329	Abnormality of cranial sutures	3190	HNRNPK	ORPHA:453504
HP:0011329	Abnormality of cranial sutures	3190	HNRNPK	ORPHA:352665
HP:0011329	Abnormality of cranial sutures	9401	RECQL4	OMIM:218600
HP:0011329	Abnormality of cranial sutures	2077	ERF	OMIM:600775
HP:0011329	Abnormality of cranial sutures	267010	RNU12	OMIM:603116
HP:0011329	Abnormality of cranial sutures	652	BMP4	OMIM:607932
HP:0011329	Abnormality of cranial sutures	9871	SEC24D	OMIM:616294
HP:0011329	Abnormality of cranial sutures	51715	RAB23	OMIM:201000
HP:0011329	Abnormality of cranial sutures	3590	IL11RA	OMIM:614188
HP:0011329	Abnormality of cranial sutures	51604	PIGT	OMIM:615398
HP:0011329	Abnormality of cranial sutures	5648	MASP1	OMIM:257920
HP:0011329	Abnormality of cranial sutures	5447	POR	OMIM:207410
HP:0011329	Abnormality of cranial sutures	2263	FGFR2	OMIM:207410
HP:0011329	Abnormality of cranial sutures	2263	FGFR2	OMIM:101400
HP:0011329	Abnormality of cranial sutures	2263	FGFR2	OMIM:123500
HP:0011329	Abnormality of cranial sutures	2263	FGFR2	OMIM:101200
HP:0011329	Abnormality of cranial sutures	7291	TWIST1	OMIM:101400
HP:0011329	Abnormality of cranial sutures	5828	PEX2	OMIM:614866
HP:0011329	Abnormality of cranial sutures	29123	ANKRD11	ORPHA:2332
HP:0011329	Abnormality of cranial sutures	860	RUNX2	OMIM:119600
HP:0011329	Abnormality of cranial sutures	2688	GH1	OMIM:262400
HP:0011329	Abnormality of cranial sutures	183	AGT	OMIM:267430
HP:0011329	Abnormality of cranial sutures	5972	REN	OMIM:267430
HP:0011329	Abnormality of cranial sutures	185	AGTR1	OMIM:267430
HP:0011329	Abnormality of cranial sutures	1636	ACE	OMIM:267430
HP:0011329	Abnormality of cranial sutures	1594	CYP27B1	OMIM:264700
HP:0011329	Abnormality of cranial sutures	142680	SLC34A3	OMIM:241530
HP:0011329	Abnormality of cranial sutures	7421	VDR	OMIM:277440
HP:0011329	Abnormality of cranial sutures	120227	CYP2R1	OMIM:600081
HP:0011329	Abnormality of cranial sutures	5189	PEX1	OMIM:214100
HP:0011329	Abnormality of cranial sutures	8241	RBM10	ORPHA:2886
HP:0011329	Abnormality of cranial sutures	4323	MMP14	ORPHA:371428
HP:0011329	Abnormality of cranial sutures	1301	COL11A1	OMIM:228520
HP:0011329	Abnormality of cranial sutures	3192	HNRNPU	ORPHA:238769
HP:0011329	Abnormality of cranial sutures	158	ADSL	OMIM:103050
HP:0011329	Abnormality of cranial sutures	158	ADSL	ORPHA:46
HP:0011329	Abnormality of cranial sutures	5518	PPP2R1A	OMIM:616362
HP:0011329	Abnormality of cranial sutures	5518	PPP2R1A	ORPHA:457284
HP:0011329	Abnormality of cranial sutures	6309	SC5D	ORPHA:46059
HP:0011329	Abnormality of cranial sutures	104	ADARB1	OMIM:618862
HP:0011329	Abnormality of cranial sutures	2290	FOXG1	ORPHA:261144
HP:0011329	Abnormality of cranial sutures	1182	CLCN3	OMIM:619512
HP:0011329	Abnormality of cranial sutures	56006	SMG9	OMIM:616920
HP:0011329	Abnormality of cranial sutures	10765	KDM5B	OMIM:618109
HP:0011329	Abnormality of cranial sutures	100151683	RNU4ATAC	OMIM:210710
HP:0011329	Abnormality of cranial sutures	84570	COL25A1	ORPHA:91411
HP:0011329	Abnormality of cranial sutures	79776	ZFHX4	ORPHA:91411
HP:0011329	Abnormality of cranial sutures	79796	ALG9	ORPHA:79328
HP:0011329	Abnormality of cranial sutures	10847	SRCAP	OMIM:136140
HP:0011329	Abnormality of cranial sutures	3021	H3-3B	OMIM:619721
HP:0011329	Abnormality of cranial sutures	5594	MAPK1	OMIM:619087
HP:0011329	Abnormality of cranial sutures	23030	KDM4B	OMIM:619320
HP:0011329	Abnormality of cranial sutures	4010	LMX1B	ORPHA:495818
HP:0011329	Abnormality of cranial sutures	6812	STXBP1	ORPHA:495818
HP:0011329	Abnormality of cranial sutures	55780	ERMARD	ORPHA:75857
HP:0011329	Abnormality of cranial sutures	471	ATIC	OMIM:608688
HP:0011329	Abnormality of cranial sutures	3767	KCNJ11	ORPHA:79134
HP:0011329	Abnormality of cranial sutures	3767	KCNJ11	ORPHA:99885
HP:0011329	Abnormality of cranial sutures	3767	KCNJ11	OMIM:618856
HP:0011329	Abnormality of cranial sutures	79731	NARS2	ORPHA:79134
HP:0011329	Abnormality of cranial sutures	6833	ABCC8	ORPHA:79134
HP:0011329	Abnormality of cranial sutures	6833	ABCC8	ORPHA:99885
HP:0011329	Abnormality of cranial sutures	2645	GCK	ORPHA:99885
HP:0011329	Abnormality of cranial sutures	3651	PDX1	ORPHA:99885
HP:0011329	Abnormality of cranial sutures	3630	INS	ORPHA:99885
HP:0011329	Abnormality of cranial sutures	4131	MAP1B	OMIM:618918
HP:0011329	Abnormality of cranial sutures	10984	KCNQ1OT1	OMIM:130650
HP:0011329	Abnormality of cranial sutures	3784	KCNQ1	OMIM:130650
HP:0011329	Abnormality of cranial sutures	8260	NAA10	OMIM:300855
HP:0011329	Abnormality of cranial sutures	2067	ERCC1	ORPHA:1466
HP:0011329	Abnormality of cranial sutures	2074	ERCC6	ORPHA:1466
HP:0011329	Abnormality of cranial sutures	2073	ERCC5	ORPHA:1466
HP:0011329	Abnormality of cranial sutures	23511	NUP188	OMIM:618804
HP:0011329	Abnormality of cranial sutures	84081	NSRP1	OMIM:620001
HP:0011329	Abnormality of cranial sutures	71	ACTG1	ORPHA:2995
HP:0011329	Abnormality of cranial sutures	60	ACTB	ORPHA:2995
HP:0011329	Abnormality of cranial sutures	23116	TOGARAM1	OMIM:619185
HP:0011329	Abnormality of cranial sutures	171023	ASXL1	ORPHA:97297
HP:0011329	Abnormality of cranial sutures	171023	ASXL1	OMIM:605039
HP:0011329	Abnormality of cranial sutures	23036	ZNF292	OMIM:619188
HP:0011329	Abnormality of cranial sutures	2702	GJA5	OMIM:612474
HP:0011329	Abnormality of cranial sutures	2703	GJA8	OMIM:612474
HP:0011329	Abnormality of cranial sutures	92949	ADAMTSL1	ORPHA:521445
HP:0011329	Abnormality of cranial sutures	4854	NOTCH3	ORPHA:2789
HP:0011329	Abnormality of cranial sutures	93627	TBCK	ORPHA:488632
HP:0011329	Abnormality of cranial sutures	6602	SMARCD1	OMIM:618779
HP:0011329	Abnormality of cranial sutures	27152	INTU	OMIM:617926
HP:0011329	Abnormality of cranial sutures	58499	ZNF462	OMIM:618619
HP:0011329	Abnormality of cranial sutures	5813	PURA	ORPHA:314655
HP:0011329	Abnormality of cranial sutures	26040	SETBP1	OMIM:269150
HP:0011329	Abnormality of cranial sutures	9896	FIG4	OMIM:216340
HP:0011329	Abnormality of cranial sutures	9896	FIG4	ORPHA:3472
HP:0011329	Abnormality of cranial sutures	55697	VAC14	ORPHA:3472
HP:0011329	Abnormality of cranial sutures	27161	AGO2	OMIM:619149
HP:0011329	Abnormality of cranial sutures	55503	TRPV6	OMIM:618188
HP:0011329	Abnormality of cranial sutures	8642	DCHS1	OMIM:601390
HP:0011329	Abnormality of cranial sutures	2697	GJA1	OMIM:257850
HP:0011329	Abnormality of cranial sutures	29998	BICRA	OMIM:619325
HP:0011329	Abnormality of cranial sutures	153241	CEP120	OMIM:616300
HP:0011329	Abnormality of cranial sutures	84720	PIGO	OMIM:614749
HP:0011329	Abnormality of cranial sutures	9839	ZEB2	ORPHA:261537
HP:0011329	Abnormality of cranial sutures	9839	ZEB2	ORPHA:261552
HP:0011329	Abnormality of cranial sutures	4488	MSX2	OMIM:604757
HP:0011329	Abnormality of cranial sutures	222663	SCUBE3	OMIM:619184
HP:0011329	Abnormality of cranial sutures	8294	H4C9	OMIM:619951
HP:0011329	Abnormality of cranial sutures	6608	SMO	OMIM:601707
HP:0011329	Abnormality of cranial sutures	5881	RAC3	OMIM:618577
HP:0011329	Abnormality of cranial sutures	1312	COMT	ORPHA:567
HP:0011329	Abnormality of cranial sutures	221037	JMJD1C	ORPHA:567
HP:0011329	Abnormality of cranial sutures	2812	GP1BB	ORPHA:567
HP:0011329	Abnormality of cranial sutures	6239	RREB1	ORPHA:567
HP:0011329	Abnormality of cranial sutures	6899	TBX1	ORPHA:567
HP:0011329	Abnormality of cranial sutures	7290	HIRA	ORPHA:567
HP:0011329	Abnormality of cranial sutures	9632	SEC24C	ORPHA:567
HP:0011329	Abnormality of cranial sutures	7353	UFD1	ORPHA:567
HP:0011329	Abnormality of cranial sutures	421	ARVCF	ORPHA:567
HP:0011329	Abnormality of cranial sutures	8925	HERC1	ORPHA:457359
HP:0011329	Abnormality of cranial sutures	158326	FREM1	OMIM:614485
HP:0011329	Abnormality of cranial sutures	1024	CDK8	OMIM:618748
HP:0011329	Abnormality of cranial sutures	51259	TMEM216	OMIM:608091
HP:0011329	Abnormality of cranial sutures	8496	PPFIBP1	OMIM:620024
HP:0011329	Abnormality of cranial sutures	5727	PTCH1	ORPHA:77301
HP:0011329	Abnormality of cranial sutures	80816	ASXL3	OMIM:615485
HP:0011329	Abnormality of cranial sutures	5277	PIGA	OMIM:300868
HP:0011329	Abnormality of cranial sutures	56098	PCDHGC4	OMIM:619880
HP:0011329	Abnormality of cranial sutures	10736	SIX2	ORPHA:488437
HP:0011329	Abnormality of cranial sutures	1642	DDB1	OMIM:619426
HP:0011329	Abnormality of cranial sutures	2719	GPC3	OMIM:312870
HP:0011329	Abnormality of cranial sutures	2239	GPC4	OMIM:312870
HP:0011328	Abnormality of fontanelles	23114	NFASC	OMIM:618356
HP:0011328	Abnormality of fontanelles	57061	HYMAI	ORPHA:96191
HP:0011328	Abnormality of fontanelles	5325	PLAGL1	ORPHA:96191
HP:0011328	Abnormality of fontanelles	4998	ORC1	OMIM:224690
HP:0011328	Abnormality of fontanelles	545	ATR	OMIM:210600
HP:0011328	Abnormality of fontanelles	100151683	RNU4ATAC	OMIM:210710
HP:0011328	Abnormality of fontanelles	4613	MYCN	OMIM:164280
HP:0011328	Abnormality of fontanelles	7407	VARS1	OMIM:617802
HP:0011328	Abnormality of fontanelles	60386	SLC25A19	OMIM:607196
HP:0011328	Abnormality of fontanelles	9791	PTDSS1	OMIM:151050
HP:0011328	Abnormality of fontanelles	9791	PTDSS1	ORPHA:2658
HP:0011328	Abnormality of fontanelles	3975	LHX1	ORPHA:261265
HP:0011328	Abnormality of fontanelles	6928	HNF1B	ORPHA:261265
HP:0011328	Abnormality of fontanelles	1182	CLCN3	OMIM:619512
HP:0011328	Abnormality of fontanelles	4598	MVK	ORPHA:29
HP:0011328	Abnormality of fontanelles	4598	MVK	OMIM:610377
HP:0011328	Abnormality of fontanelles	6711	SPTBN1	OMIM:619475
HP:0011328	Abnormality of fontanelles	8425	LTBP4	OMIM:613177
HP:0011328	Abnormality of fontanelles	3248	HPGD	OMIM:259100
HP:0011328	Abnormality of fontanelles	3248	HPGD	ORPHA:1525
HP:0011328	Abnormality of fontanelles	113189	CHST14	OMIM:601776
HP:0011328	Abnormality of fontanelles	113189	CHST14	ORPHA:2953
HP:0011328	Abnormality of fontanelles	267010	RNU12	OMIM:603116
HP:0011328	Abnormality of fontanelles	3636	INPPL1	OMIM:258480
HP:0011328	Abnormality of fontanelles	3636	INPPL1	ORPHA:2746
HP:0011328	Abnormality of fontanelles	8443	GNPAT	OMIM:222765
HP:0011328	Abnormality of fontanelles	4094	MAF	ORPHA:1272
HP:0011328	Abnormality of fontanelles	80816	ASXL3	OMIM:615485
HP:0011328	Abnormality of fontanelles	58	ACTA1	ORPHA:171430
HP:0011328	Abnormality of fontanelles	4703	NEB	ORPHA:171430
HP:0011328	Abnormality of fontanelles	4703	NEB	OMIM:619334
HP:0011328	Abnormality of fontanelles	131377	KLHL40	ORPHA:171430
HP:0011328	Abnormality of fontanelles	10324	KLHL41	ORPHA:171430
HP:0011328	Abnormality of fontanelles	56203	LMOD3	ORPHA:171430
HP:0011328	Abnormality of fontanelles	5831	PYCR1	OMIM:614438
HP:0011328	Abnormality of fontanelles	5831	PYCR1	OMIM:612940
HP:0011328	Abnormality of fontanelles	23729	SHPK	ORPHA:440713
HP:0011328	Abnormality of fontanelles	5832	ALDH18A1	OMIM:219150
HP:0011328	Abnormality of fontanelles	10651	MTX2	ORPHA:90153
HP:0011328	Abnormality of fontanelles	56975	FAM20C	ORPHA:1832
HP:0011328	Abnormality of fontanelles	56975	FAM20C	OMIM:259775
HP:0011328	Abnormality of fontanelles	5172	SLC26A4	ORPHA:95720
HP:0011328	Abnormality of fontanelles	5172	SLC26A4	ORPHA:95713
HP:0011328	Abnormality of fontanelles	1028	CDKN1C	OMIM:130650
HP:0011328	Abnormality of fontanelles	10984	KCNQ1OT1	OMIM:130650
HP:0011328	Abnormality of fontanelles	3784	KCNQ1	OMIM:130650
HP:0011328	Abnormality of fontanelles	7874	USP7	OMIM:616863
HP:0011328	Abnormality of fontanelles	7080	NKX2-1	ORPHA:95713
HP:0011328	Abnormality of fontanelles	1482	NKX2-5	ORPHA:95713
HP:0011328	Abnormality of fontanelles	1482	NKX2-5	ORPHA:95712
HP:0011328	Abnormality of fontanelles	2304	FOXE1	ORPHA:95713
HP:0011328	Abnormality of fontanelles	3295	HSD17B4	OMIM:261515
HP:0011328	Abnormality of fontanelles	57688	ZSWIM6	ORPHA:1827
HP:0011328	Abnormality of fontanelles	71	ACTG1	ORPHA:2995
HP:0011328	Abnormality of fontanelles	60	ACTB	ORPHA:2995
HP:0011328	Abnormality of fontanelles	3239	HOXD13	ORPHA:887
HP:0011328	Abnormality of fontanelles	9896	FIG4	OMIM:216340
HP:0011328	Abnormality of fontanelles	857	CAV1	OMIM:606721
HP:0011328	Abnormality of fontanelles	27031	NPHP3	OMIM:267010
HP:0011328	Abnormality of fontanelles	5277	PIGA	OMIM:300868
HP:0011328	Abnormality of fontanelles	51025	PAM16	OMIM:613320
HP:0011328	Abnormality of fontanelles	79053	ALG8	OMIM:608104
HP:0011328	Abnormality of fontanelles	56052	ALG1	OMIM:608540
HP:0011328	Abnormality of fontanelles	2697	GJA1	OMIM:257850
HP:0011328	Abnormality of fontanelles	168667	BMPER	OMIM:608022
HP:0011328	Abnormality of fontanelles	10682	EBP	ORPHA:401973
HP:0011328	Abnormality of fontanelles	4921	DDR2	OMIM:271665
HP:0011328	Abnormality of fontanelles	5648	MASP1	OMIM:257920
HP:0011328	Abnormality of fontanelles	9526	MPDU1	OMIM:609180
HP:0011328	Abnormality of fontanelles	9526	MPDU1	ORPHA:79323
HP:0011328	Abnormality of fontanelles	1278	COL1A2	OMIM:259420
HP:0011328	Abnormality of fontanelles	5447	POR	ORPHA:95699
HP:0011328	Abnormality of fontanelles	5447	POR	OMIM:207410
HP:0011328	Abnormality of fontanelles	2737	GLI3	ORPHA:36
HP:0011328	Abnormality of fontanelles	374654	KIF7	ORPHA:36
HP:0011328	Abnormality of fontanelles	374654	KIF7	OMIM:200990
HP:0011328	Abnormality of fontanelles	4281	MID1	OMIM:300000
HP:0011328	Abnormality of fontanelles	4920	ROR2	OMIM:113000
HP:0011328	Abnormality of fontanelles	4920	ROR2	OMIM:268310
HP:0011328	Abnormality of fontanelles	2263	FGFR2	OMIM:207410
HP:0011328	Abnormality of fontanelles	169792	GLIS3	OMIM:610199
HP:0011328	Abnormality of fontanelles	6662	SOX9	OMIM:114290
HP:0011328	Abnormality of fontanelles	5189	PEX1	OMIM:214100
HP:0011328	Abnormality of fontanelles	5189	PEX1	ORPHA:44
HP:0011328	Abnormality of fontanelles	5189	PEX1	ORPHA:912
HP:0011328	Abnormality of fontanelles	29957	SLC25A24	ORPHA:2963
HP:0011328	Abnormality of fontanelles	29957	SLC25A24	OMIM:612289
HP:0011328	Abnormality of fontanelles	64175	P3H1	OMIM:610915
HP:0011328	Abnormality of fontanelles	170302	ARX	OMIM:300215
HP:0011328	Abnormality of fontanelles	25915	NDUFAF3	OMIM:618240
HP:0011328	Abnormality of fontanelles	8260	NAA10	OMIM:300855
HP:0011328	Abnormality of fontanelles	2261	FGFR3	ORPHA:1860
HP:0011328	Abnormality of fontanelles	2261	FGFR3	ORPHA:15
HP:0011328	Abnormality of fontanelles	2261	FGFR3	OMIM:616482
HP:0011328	Abnormality of fontanelles	1147	CHUK	OMIM:619339
HP:0011328	Abnormality of fontanelles	1009	CDH11	OMIM:619736
HP:0011328	Abnormality of fontanelles	7490	WT1	OMIM:194080
HP:0011328	Abnormality of fontanelles	9377	COX5A	OMIM:619064
HP:0011328	Abnormality of fontanelles	7703	PCGF2	OMIM:618371
HP:0011328	Abnormality of fontanelles	9401	RECQL4	OMIM:218600
HP:0011328	Abnormality of fontanelles	1301	COL11A1	OMIM:228520
HP:0011328	Abnormality of fontanelles	1301	COL11A1	ORPHA:2021
HP:0011328	Abnormality of fontanelles	79796	ALG9	OMIM:263210
HP:0011328	Abnormality of fontanelles	79796	ALG9	ORPHA:79328
HP:0011328	Abnormality of fontanelles	2475	MTOR	OMIM:616638
HP:0011328	Abnormality of fontanelles	79633	FAT4	OMIM:615546
HP:0011328	Abnormality of fontanelles	4036	LRP2	ORPHA:2143
HP:0011328	Abnormality of fontanelles	4036	LRP2	OMIM:222448
HP:0011328	Abnormality of fontanelles	1302	COL11A2	ORPHA:2021
HP:0011328	Abnormality of fontanelles	8642	DCHS1	OMIM:601390
HP:0011328	Abnormality of fontanelles	5193	PEX12	OMIM:614859
HP:0011328	Abnormality of fontanelles	5193	PEX12	ORPHA:44
HP:0011328	Abnormality of fontanelles	5193	PEX12	ORPHA:912
HP:0011328	Abnormality of fontanelles	3265	HRAS	OMIM:218040
HP:0011328	Abnormality of fontanelles	26040	SETBP1	ORPHA:798
HP:0011328	Abnormality of fontanelles	3981	LIG4	ORPHA:235
HP:0011328	Abnormality of fontanelles	54888	NSUN2	ORPHA:235
HP:0011328	Abnormality of fontanelles	145173	B3GLCT	OMIM:261540
HP:0011328	Abnormality of fontanelles	56006	SMG9	OMIM:616920
HP:0011328	Abnormality of fontanelles	1387	CREBBP	OMIM:180849
HP:0011328	Abnormality of fontanelles	2033	EP300	OMIM:180849
HP:0011328	Abnormality of fontanelles	5828	PEX2	OMIM:614866
HP:0011328	Abnormality of fontanelles	5828	PEX2	ORPHA:44
HP:0011328	Abnormality of fontanelles	5828	PEX2	ORPHA:912
HP:0011328	Abnormality of fontanelles	9091	PIGQ	OMIM:618548
HP:0011328	Abnormality of fontanelles	25839	COG4	OMIM:618150
HP:0011328	Abnormality of fontanelles	23405	DICER1	OMIM:618272
HP:0011328	Abnormality of fontanelles	285590	SH3PXD2B	OMIM:249420
HP:0011328	Abnormality of fontanelles	8318	CDC45	OMIM:617063
HP:0011328	Abnormality of fontanelles	28952	CCDC22	OMIM:300963
HP:0011328	Abnormality of fontanelles	55670	PEX26	OMIM:614872
HP:0011328	Abnormality of fontanelles	55670	PEX26	ORPHA:44
HP:0011328	Abnormality of fontanelles	55670	PEX26	ORPHA:912
HP:0011328	Abnormality of fontanelles	7291	TWIST1	OMIM:617746
HP:0011328	Abnormality of fontanelles	388015	RTL1	ORPHA:96334
HP:0011328	Abnormality of fontanelles	8788	DLK1	ORPHA:96334
HP:0011328	Abnormality of fontanelles	55384	MEG3	ORPHA:96334
HP:0011328	Abnormality of fontanelles	63895	PIEZO2	OMIM:248700
HP:0011328	Abnormality of fontanelles	6497	SKI	OMIM:182212
HP:0011328	Abnormality of fontanelles	8504	PEX3	ORPHA:44
HP:0011328	Abnormality of fontanelles	8504	PEX3	ORPHA:912
HP:0011328	Abnormality of fontanelles	9409	PEX16	ORPHA:44
HP:0011328	Abnormality of fontanelles	9409	PEX16	ORPHA:912
HP:0011328	Abnormality of fontanelles	5190	PEX6	ORPHA:44
HP:0011328	Abnormality of fontanelles	5190	PEX6	ORPHA:912
HP:0011328	Abnormality of fontanelles	8799	PEX11B	ORPHA:44
HP:0011328	Abnormality of fontanelles	8799	PEX11B	ORPHA:912
HP:0011328	Abnormality of fontanelles	5830	PEX5	ORPHA:44
HP:0011328	Abnormality of fontanelles	5830	PEX5	ORPHA:912
HP:0011328	Abnormality of fontanelles	5194	PEX13	ORPHA:44
HP:0011328	Abnormality of fontanelles	5194	PEX13	OMIM:614883
HP:0011328	Abnormality of fontanelles	5194	PEX13	ORPHA:912
HP:0011328	Abnormality of fontanelles	5192	PEX10	ORPHA:44
HP:0011328	Abnormality of fontanelles	5192	PEX10	ORPHA:912
HP:0011328	Abnormality of fontanelles	57020	VPS35L	OMIM:619135
HP:0011328	Abnormality of fontanelles	5528	PPP2R5D	ORPHA:457279
HP:0011328	Abnormality of fontanelles	10661	KLF1	OMIM:613673
HP:0011328	Abnormality of fontanelles	10491	CRTAP	OMIM:610682
HP:0011328	Abnormality of fontanelles	4052	LTBP1	ORPHA:90349
HP:0011328	Abnormality of fontanelles	30008	EFEMP2	ORPHA:90349
HP:0011328	Abnormality of fontanelles	10516	FBLN5	ORPHA:90349
HP:0011328	Abnormality of fontanelles	10269	ZMPSTE24	OMIM:275210
HP:0011328	Abnormality of fontanelles	7474	WNT5A	OMIM:180700
HP:0011328	Abnormality of fontanelles	1855	DVL1	OMIM:180700
HP:0011328	Abnormality of fontanelles	56160	NSMCE3	OMIM:617241
HP:0011328	Abnormality of fontanelles	9742	IFT140	OMIM:266920
HP:0011328	Abnormality of fontanelles	10736	SIX2	ORPHA:488437
HP:0011328	Abnormality of fontanelles	25871	NEPRO	OMIM:618853
HP:0011328	Abnormality of fontanelles	27152	INTU	OMIM:617925
HP:0011328	Abnormality of fontanelles	7252	TSHB	OMIM:275100
HP:0011328	Abnormality of fontanelles	6888	TALDO1	OMIM:606003
HP:0011328	Abnormality of fontanelles	2108	ETFA	OMIM:231680
HP:0011328	Abnormality of fontanelles	2109	ETFB	OMIM:231680
HP:0011328	Abnormality of fontanelles	2110	ETFDH	OMIM:231680
HP:0011328	Abnormality of fontanelles	865	CBFB	OMIM:620099
HP:0011328	Abnormality of fontanelles	139285	AMER1	OMIM:300373
HP:0011328	Abnormality of fontanelles	6197	RPS6KA3	OMIM:303600
HP:0011328	Abnormality of fontanelles	443	ASPA	OMIM:271900
HP:0011328	Abnormality of fontanelles	6905	TBCE	OMIM:244460
HP:0011328	Abnormality of fontanelles	9759	HDAC4	OMIM:619797
HP:0011328	Abnormality of fontanelles	23545	ATP6V0A2	ORPHA:357074
HP:0011328	Abnormality of fontanelles	23545	ATP6V0A2	ORPHA:2834
HP:0011328	Abnormality of fontanelles	23545	ATP6V0A2	OMIM:278250
HP:0011328	Abnormality of fontanelles	523	ATP6V1A	ORPHA:357074
HP:0011328	Abnormality of fontanelles	529	ATP6V1E1	ORPHA:357074
HP:0011328	Abnormality of fontanelles	54892	NCAPG2	OMIM:618460
HP:0011328	Abnormality of fontanelles	84168	ANTXR1	OMIM:230740
HP:0011328	Abnormality of fontanelles	8815	BANF1	OMIM:614008
HP:0011328	Abnormality of fontanelles	5824	PEX19	OMIM:614886
HP:0011328	Abnormality of fontanelles	5195	PEX14	OMIM:614887
HP:0011328	Abnormality of fontanelles	63901	FAM111A	OMIM:127000
HP:0011328	Abnormality of fontanelles	11128	POLR3A	OMIM:264090
HP:0011328	Abnormality of fontanelles	4313	MMP2	OMIM:259600
HP:0011328	Abnormality of fontanelles	2887	GRB10	ORPHA:96182
HP:0011328	Abnormality of fontanelles	3481	IGF2	ORPHA:231140
HP:0011328	Abnormality of fontanelles	283120	H19	ORPHA:231140
HP:0011328	Abnormality of fontanelles	10484	SEC23A	OMIM:607812
HP:0011328	Abnormality of fontanelles	1277	COL1A1	OMIM:130060
HP:0011328	Abnormality of fontanelles	9509	ADAMTS2	OMIM:225410
HP:0011328	Abnormality of fontanelles	7545	ZIC1	OMIM:618736
HP:0011328	Abnormality of fontanelles	114548	NLRP3	ORPHA:1451
HP:0011328	Abnormality of fontanelles	2316	FLNA	OMIM:311300
HP:0011328	Abnormality of fontanelles	2316	FLNA	OMIM:304120
HP:0011328	Abnormality of fontanelles	9968	MED12	OMIM:305450
HP:0011328	Abnormality of fontanelles	9126	SMC3	OMIM:610759
HP:0011328	Abnormality of fontanelles	1513	CTSK	ORPHA:763
HP:0011328	Abnormality of fontanelles	1513	CTSK	OMIM:265800
HP:0011328	Abnormality of fontanelles	29123	ANKRD11	ORPHA:2332
HP:0011328	Abnormality of fontanelles	860	RUNX2	OMIM:119600
HP:0011328	Abnormality of fontanelles	2688	GH1	OMIM:262400
HP:0011328	Abnormality of fontanelles	538	ATP7A	OMIM:304150
HP:0011328	Abnormality of fontanelles	29940	DSE	OMIM:615539
HP:0011328	Abnormality of fontanelles	7849	PAX8	OMIM:218700
HP:0011328	Abnormality of fontanelles	5626	PROP1	ORPHA:226307
HP:0011328	Abnormality of fontanelles	89884	LHX4	ORPHA:226307
HP:0011328	Abnormality of fontanelles	8022	LHX3	ORPHA:226307
HP:0011328	Abnormality of fontanelles	5449	POU1F1	ORPHA:226307
HP:0011328	Abnormality of fontanelles	8820	HESX1	ORPHA:226307
HP:0011328	Abnormality of fontanelles	405753	DUOXA2	ORPHA:95716
HP:0011328	Abnormality of fontanelles	6528	SLC5A5	ORPHA:95716
HP:0011328	Abnormality of fontanelles	7038	TG	ORPHA:95716
HP:0011328	Abnormality of fontanelles	7173	TPO	ORPHA:95716
HP:0011328	Abnormality of fontanelles	389434	IYD	ORPHA:95716
HP:0011328	Abnormality of fontanelles	50506	DUOX2	ORPHA:95716
HP:0011328	Abnormality of fontanelles	7253	TSHR	ORPHA:90673
HP:0011328	Abnormality of fontanelles	2879	GPX4	OMIM:250220
HP:0011328	Abnormality of fontanelles	183	AGT	OMIM:267430
HP:0011328	Abnormality of fontanelles	5972	REN	OMIM:267430
HP:0011328	Abnormality of fontanelles	185	AGTR1	OMIM:267430
HP:0011328	Abnormality of fontanelles	1636	ACE	OMIM:267430
HP:0011328	Abnormality of fontanelles	249	ALPL	OMIM:241500
HP:0011328	Abnormality of fontanelles	1594	CYP27B1	OMIM:264700
HP:0011328	Abnormality of fontanelles	142680	SLC34A3	OMIM:241530
HP:0011328	Abnormality of fontanelles	7421	VDR	OMIM:277440
HP:0011328	Abnormality of fontanelles	4000	LMNA	ORPHA:1662
HP:0011328	Abnormality of fontanelles	4488	MSX2	OMIM:168550
HP:0011328	Abnormality of fontanelles	120227	CYP2R1	OMIM:600081
HP:0011328	Abnormality of fontanelles	8241	RBM10	ORPHA:2886
HP:0011328	Abnormality of fontanelles	1509	CTSD	OMIM:610127
HP:0011328	Abnormality of fontanelles	2067	ERCC1	OMIM:610758
HP:0011328	Abnormality of fontanelles	197131	UBR1	OMIM:243800
HP:0011328	Abnormality of fontanelles	79158	GNPTAB	OMIM:252500
HP:0011328	Abnormality of fontanelles	56896	DPYSL5	OMIM:619435
HP:0011328	Abnormality of fontanelles	54820	NDE1	ORPHA:2177
HP:0011328	Abnormality of fontanelles	546	ATRX	ORPHA:847
HP:0011327	Posterior plagiocephaly	815	CAMK2A	OMIM:617798
HP:0011327	Posterior plagiocephaly	23394	ADNP	OMIM:615873
HP:0011327	Posterior plagiocephaly	2890	GRIA1	OMIM:619927
HP:0011327	Posterior plagiocephaly	781	CACNA2D1	OMIM:620149
HP:0011327	Posterior plagiocephaly	9578	CDC42BPB	OMIM:619841
HP:0011327	Posterior plagiocephaly	79087	ALG12	ORPHA:79324
HP:0011326	Anterior plagiocephaly	6938	TCF12	OMIM:619718
HP:0011326	Anterior plagiocephaly	84720	PIGO	OMIM:614749
HP:0011326	Anterior plagiocephaly	526	ATP6V1B2	ORPHA:79500
HP:0011326	Anterior plagiocephaly	57465	TBC1D24	ORPHA:79500
HP:0011326	Anterior plagiocephaly	60529	ALX4	OMIM:613451
HP:0011321	Left unilambdoid synostosis	3845	KRAS	OMIM:609942
HP:0011320	Unilambdoid synostosis	5881	RAC3	OMIM:618577
HP:0011320	Unilambdoid synostosis	3845	KRAS	OMIM:609942
HP:0011320	Unilambdoid synostosis	7545	ZIC1	OMIM:616602
HP:0007894	Hypopigmentation of the fundus	4935	GPR143	OMIM:300500
HP:0007894	Hypopigmentation of the fundus	4547	MTTP	ORPHA:14
HP:0007894	Hypopigmentation of the fundus	57724	EPG5	OMIM:242840
HP:0007894	Hypopigmentation of the fundus	7299	TYR	OMIM:606952
HP:0007894	Hypopigmentation of the fundus	1910	EDNRB	OMIM:600501
HP:0007894	Hypopigmentation of the fundus	1121	CHM	OMIM:303100
HP:0007894	Hypopigmentation of the fundus	374654	KIF7	OMIM:200990
HP:0007894	Hypopigmentation of the fundus	26258	BLOC1S6	OMIM:614171
HP:0007894	Hypopigmentation of the fundus	5077	PAX3	OMIM:193500
HP:0007894	Hypopigmentation of the fundus	778	CACNA1F	ORPHA:178333
HP:0007894	Hypopigmentation of the fundus	6663	SOX10	OMIM:611584
HP:0007894	Hypopigmentation of the fundus	4286	MITF	OMIM:103500
HP:0007894	Hypopigmentation of the fundus	4948	OCA2	OMIM:203200
HP:0007894	Hypopigmentation of the fundus	4157	MC1R	OMIM:203200
HP:0007894	Hypopigmentation of the fundus	1282	COL4A1	OMIM:175780
HP:0007894	Hypopigmentation of the fundus	51151	SLC45A2	OMIM:606574
HP:0007894	Hypopigmentation of the fundus	3913	LAMB2	OMIM:609049
HP:0007894	Hypopigmentation of the fundus	10166	SLC25A15	OMIM:238970
HP:0007894	Hypopigmentation of the fundus	2677	GGCX	ORPHA:436274
HP:0007894	Hypopigmentation of the fundus	5961	PRPH2	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	3000	GUCY2D	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	2978	GUCA1A	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	7249	TSC2	OMIM:613254
HP:0007894	Hypopigmentation of the fundus	3458	IFNG	OMIM:613254
HP:0007894	Hypopigmentation of the fundus	7248	TSC1	OMIM:191100
HP:0000518	Cataract	1409	CRYAA	OMIM:604219
HP:0000518	Cataract	1409	CRYAA	ORPHA:1377
HP:0000518	Cataract	875	CBS	ORPHA:394
HP:0000518	Cataract	2218	FKTN	ORPHA:272
HP:0000518	Cataract	2218	FKTN	ORPHA:588
HP:0000518	Cataract	2218	FKTN	OMIM:236670
HP:0000518	Cataract	2218	FKTN	ORPHA:899
HP:0000518	Cataract	2218	FKTN	OMIM:253800
HP:0000518	Cataract	1410	CRYAB	OMIM:608810
HP:0000518	Cataract	1410	CRYAB	OMIM:615184
HP:0000518	Cataract	26235	FBXL4	OMIM:615471
HP:0000518	Cataract	29925	GMPPB	OMIM:615350
HP:0000518	Cataract	29925	GMPPB	OMIM:615351
HP:0000518	Cataract	29925	GMPPB	OMIM:615352
HP:0000518	Cataract	29925	GMPPB	ORPHA:588
HP:0000518	Cataract	29925	GMPPB	ORPHA:370959
HP:0000518	Cataract	29925	GMPPB	ORPHA:363623
HP:0000518	Cataract	83932	SPRTN	OMIM:616200
HP:0000518	Cataract	2200	FBN1	ORPHA:1885
HP:0000518	Cataract	2200	FBN1	OMIM:184900
HP:0000518	Cataract	2200	FBN1	OMIM:608328
HP:0000518	Cataract	2200	FBN1	ORPHA:3449
HP:0000518	Cataract	2200	FBN1	OMIM:154700
HP:0000518	Cataract	54507	ADAMTSL4	ORPHA:1885
HP:0000518	Cataract	54507	ADAMTSL4	OMIM:225200
HP:0000518	Cataract	1161	ERCC8	ORPHA:90324
HP:0000518	Cataract	1161	ERCC8	ORPHA:90321
HP:0000518	Cataract	1161	ERCC8	OMIM:216400
HP:0000518	Cataract	2074	ERCC6	ORPHA:90324
HP:0000518	Cataract	2074	ERCC6	ORPHA:90321
HP:0000518	Cataract	2074	ERCC6	OMIM:214150
HP:0000518	Cataract	2074	ERCC6	ORPHA:1466
HP:0000518	Cataract	2972	BRF1	OMIM:616202
HP:0000518	Cataract	2972	BRF1	ORPHA:444072
HP:0000518	Cataract	60684	TRAPPC11	OMIM:615356
HP:0000518	Cataract	60684	TRAPPC11	ORPHA:369840
HP:0000518	Cataract	60684	TRAPPC11	ORPHA:369847
HP:0000518	Cataract	4897	NRCAM	OMIM:619833
HP:0000518	Cataract	81857	MED25	OMIM:616449
HP:0000518	Cataract	1786	DNMT1	ORPHA:314404
HP:0000518	Cataract	84942	WDR73	OMIM:251300
HP:0000518	Cataract	4693	NDP	OMIM:310600
HP:0000518	Cataract	4693	NDP	ORPHA:891
HP:0000518	Cataract	4693	NDP	ORPHA:649
HP:0000518	Cataract	4693	NDP	ORPHA:91495
HP:0000518	Cataract	4693	NDP	ORPHA:190
HP:0000518	Cataract	1736	DKC1	OMIM:305000
HP:0000518	Cataract	1736	DKC1	ORPHA:1775
HP:0000518	Cataract	5830	PEX5	OMIM:214110
HP:0000518	Cataract	5830	PEX5	ORPHA:772
HP:0000518	Cataract	5830	PEX5	ORPHA:44
HP:0000518	Cataract	5830	PEX5	ORPHA:912
HP:0000518	Cataract	2072	ERCC4	ORPHA:90321
HP:0000518	Cataract	2072	ERCC4	ORPHA:84
HP:0000518	Cataract	2072	ERCC4	ORPHA:910
HP:0000518	Cataract	347733	TUBB2B	ORPHA:1766
HP:0000518	Cataract	7436	VLDLR	ORPHA:1766
HP:0000518	Cataract	7436	VLDLR	OMIM:224050
HP:0000518	Cataract	124997	WDR81	ORPHA:1766
HP:0000518	Cataract	51761	ATP8A2	ORPHA:1766
HP:0000518	Cataract	767	CA8	ORPHA:1766
HP:0000518	Cataract	6720	SREBF1	OMIM:158310
HP:0000518	Cataract	6720	SREBF1	OMIM:619016
HP:0000518	Cataract	4125	MAN2B1	ORPHA:309282
HP:0000518	Cataract	4125	MAN2B1	ORPHA:309288
HP:0000518	Cataract	114803	MYSM1	ORPHA:508542
HP:0000518	Cataract	54714	CNGB3	OMIM:262300
HP:0000518	Cataract	126792	B3GALT6	ORPHA:2725
HP:0000518	Cataract	5728	PTEN	ORPHA:2969
HP:0000518	Cataract	5728	PTEN	ORPHA:201
HP:0000518	Cataract	5728	PTEN	ORPHA:744
HP:0000518	Cataract	5728	PTEN	OMIM:158350
HP:0000518	Cataract	84197	POMK	OMIM:615249
HP:0000518	Cataract	84197	POMK	ORPHA:899
HP:0000518	Cataract	84197	POMK	ORPHA:370959
HP:0000518	Cataract	4286	MITF	OMIM:617306
HP:0000518	Cataract	7486	WRN	OMIM:277700
HP:0000518	Cataract	7486	WRN	ORPHA:902
HP:0000518	Cataract	7086	TKT	ORPHA:488618
HP:0000518	Cataract	5189	PEX1	OMIM:214100
HP:0000518	Cataract	5189	PEX1	ORPHA:772
HP:0000518	Cataract	5189	PEX1	ORPHA:44
HP:0000518	Cataract	5189	PEX1	ORPHA:912
HP:0000518	Cataract	3105	HLA-A	ORPHA:179
HP:0000518	Cataract	220202	ATOH7	OMIM:221900
HP:0000518	Cataract	220202	ATOH7	ORPHA:91495
HP:0000518	Cataract	112802	KRT71	ORPHA:170
HP:0000518	Cataract	121391	KRT74	ORPHA:170
HP:0000518	Cataract	200879	LIPH	ORPHA:170
HP:0000518	Cataract	10161	LPAR6	ORPHA:170
HP:0000518	Cataract	147183	KRT25	ORPHA:170
HP:0000518	Cataract	23250	ATP11A	OMIM:619851
HP:0000518	Cataract	5832	ALDH18A1	OMIM:616586
HP:0000518	Cataract	5832	ALDH18A1	OMIM:601162
HP:0000518	Cataract	5832	ALDH18A1	ORPHA:35664
HP:0000518	Cataract	5832	ALDH18A1	OMIM:219150
HP:0000518	Cataract	1298	COL9A2	OMIM:614284
HP:0000518	Cataract	1298	COL9A2	ORPHA:250984
HP:0000518	Cataract	130589	GALM	OMIM:618881
HP:0000518	Cataract	130589	GALM	ORPHA:570422
HP:0000518	Cataract	2671	GFER	OMIM:613076
HP:0000518	Cataract	79797	ZNF408	OMIM:616468
HP:0000518	Cataract	79797	ZNF408	ORPHA:791
HP:0000518	Cataract	79797	ZNF408	ORPHA:891
HP:0000518	Cataract	54880	BCOR	ORPHA:2712
HP:0000518	Cataract	54880	BCOR	ORPHA:568
HP:0000518	Cataract	55699	IARS2	ORPHA:436174
HP:0000518	Cataract	55699	IARS2	OMIM:616007
HP:0000518	Cataract	27151	CPAMD8	OMIM:617319
HP:0000518	Cataract	51109	RDH11	OMIM:616108
HP:0000518	Cataract	84100	ARL6	OMIM:209900
HP:0000518	Cataract	84100	ARL6	ORPHA:791
HP:0000518	Cataract	79140	CCDC28B	OMIM:209900
HP:0000518	Cataract	582	BBS1	OMIM:209900
HP:0000518	Cataract	582	BBS1	ORPHA:791
HP:0000518	Cataract	79184	BRCC3	ORPHA:280679
HP:0000518	Cataract	6100	RP9	OMIM:180104
HP:0000518	Cataract	6100	RP9	ORPHA:791
HP:0000518	Cataract	2697	GJA1	ORPHA:2710
HP:0000518	Cataract	2697	GJA1	ORPHA:317
HP:0000518	Cataract	2697	GJA1	OMIM:164200
HP:0000518	Cataract	2697	GJA1	OMIM:257850
HP:0000518	Cataract	7020	TFAP2A	OMIM:113620
HP:0000518	Cataract	7020	TFAP2A	ORPHA:1297
HP:0000518	Cataract	2512	FTL	ORPHA:163
HP:0000518	Cataract	2512	FTL	ORPHA:254704
HP:0000518	Cataract	857	CAV1	OMIM:606721
HP:0000518	Cataract	23347	SMCHD1	OMIM:603457
HP:0000518	Cataract	23347	SMCHD1	ORPHA:2250
HP:0000518	Cataract	8726	EED	OMIM:617561
HP:0000518	Cataract	54968	TMEM70	OMIM:614052
HP:0000518	Cataract	55214	P3H2	OMIM:614292
HP:0000518	Cataract	1280	COL2A1	ORPHA:90653
HP:0000518	Cataract	1280	COL2A1	ORPHA:1856
HP:0000518	Cataract	1280	COL2A1	ORPHA:485
HP:0000518	Cataract	1280	COL2A1	OMIM:132450
HP:0000518	Cataract	1280	COL2A1	OMIM:156550
HP:0000518	Cataract	1280	COL2A1	ORPHA:166011
HP:0000518	Cataract	1280	COL2A1	OMIM:108300
HP:0000518	Cataract	1280	COL2A1	ORPHA:93296
HP:0000518	Cataract	8550	MAPKAPK5	OMIM:619869
HP:0000518	Cataract	1301	COL11A1	ORPHA:90654
HP:0000518	Cataract	1301	COL11A1	OMIM:604841
HP:0000518	Cataract	1301	COL11A1	ORPHA:560
HP:0000518	Cataract	1301	COL11A1	OMIM:154780
HP:0000518	Cataract	1301	COL11A1	ORPHA:250984
HP:0000518	Cataract	1201	CLN3	OMIM:204200
HP:0000518	Cataract	1201	CLN3	ORPHA:228346
HP:0000518	Cataract	64132	XYLT2	ORPHA:85194
HP:0000518	Cataract	64132	XYLT2	OMIM:605822
HP:0000518	Cataract	23268	DNMBP	OMIM:618415
HP:0000518	Cataract	10716	TBR1	ORPHA:1617
HP:0000518	Cataract	2316	FLNA	ORPHA:90652
HP:0000518	Cataract	2316	FLNA	OMIM:304120
HP:0000518	Cataract	81794	ADAMTS10	OMIM:277600
HP:0000518	Cataract	81794	ADAMTS10	ORPHA:3449
HP:0000518	Cataract	3981	LIG4	ORPHA:235
HP:0000518	Cataract	54888	NSUN2	ORPHA:235
HP:0000518	Cataract	1349	COX7B	OMIM:309801
HP:0000518	Cataract	3052	HCCS	OMIM:309801
HP:0000518	Cataract	54539	NDUFB11	OMIM:309801
HP:0000518	Cataract	2936	GSR	OMIM:618660
HP:0000518	Cataract	3769	KCNJ13	OMIM:614186
HP:0000518	Cataract	3769	KCNJ13	ORPHA:65
HP:0000518	Cataract	3769	KCNJ13	OMIM:193230
HP:0000518	Cataract	27125	AFF4	OMIM:616368
HP:0000518	Cataract	27125	AFF4	ORPHA:444077
HP:0000518	Cataract	2592	GALT	OMIM:230400
HP:0000518	Cataract	2592	GALT	ORPHA:79239
HP:0000518	Cataract	116115	ZNF526	OMIM:619877
HP:0000518	Cataract	5590	PRKCZ	ORPHA:1606
HP:0000518	Cataract	2563	GABRD	ORPHA:1606
HP:0000518	Cataract	23013	SPEN	ORPHA:1606
HP:0000518	Cataract	8510	MMP23B	ORPHA:1606
HP:0000518	Cataract	7798	LUZP1	ORPHA:1606
HP:0000518	Cataract	6497	SKI	ORPHA:1606
HP:0000518	Cataract	10630	PDPN	ORPHA:1606
HP:0000518	Cataract	3339	HSPG2	ORPHA:1606
HP:0000518	Cataract	3339	HSPG2	OMIM:255800
HP:0000518	Cataract	3339	HSPG2	OMIM:224410
HP:0000518	Cataract	3339	HSPG2	ORPHA:800
HP:0000518	Cataract	10277	UBE4B	ORPHA:1606
HP:0000518	Cataract	8514	KCNAB2	ORPHA:1606
HP:0000518	Cataract	473	RERE	ORPHA:1606
HP:0000518	Cataract	63976	PRDM16	ORPHA:1606
HP:0000518	Cataract	54897	CASZ1	ORPHA:1606
HP:0000518	Cataract	415	ARSL	ORPHA:79345
HP:0000518	Cataract	415	ARSL	OMIM:302950
HP:0000518	Cataract	4567	MT-TL1	ORPHA:225
HP:0000518	Cataract	4556	MT-TE	ORPHA:225
HP:0000518	Cataract	4566	MT-TK	ORPHA:225
HP:0000518	Cataract	148789	B3GALNT2	ORPHA:588
HP:0000518	Cataract	148789	B3GALNT2	OMIM:615181
HP:0000518	Cataract	148789	B3GALNT2	ORPHA:899
HP:0000518	Cataract	79147	FKRP	ORPHA:588
HP:0000518	Cataract	79147	FKRP	OMIM:236670
HP:0000518	Cataract	79147	FKRP	ORPHA:899
HP:0000518	Cataract	79147	FKRP	ORPHA:370959
HP:0000518	Cataract	79147	FKRP	OMIM:613153
HP:0000518	Cataract	9215	LARGE1	ORPHA:588
HP:0000518	Cataract	9215	LARGE1	OMIM:236670
HP:0000518	Cataract	9215	LARGE1	ORPHA:899
HP:0000518	Cataract	29954	POMT2	ORPHA:588
HP:0000518	Cataract	29954	POMT2	OMIM:236670
HP:0000518	Cataract	29954	POMT2	ORPHA:899
HP:0000518	Cataract	29954	POMT2	ORPHA:370959
HP:0000518	Cataract	29954	POMT2	OMIM:613150
HP:0000518	Cataract	55624	POMGNT1	ORPHA:588
HP:0000518	Cataract	55624	POMGNT1	ORPHA:791
HP:0000518	Cataract	55624	POMGNT1	ORPHA:899
HP:0000518	Cataract	55624	POMGNT1	ORPHA:370959
HP:0000518	Cataract	55624	POMGNT1	OMIM:253280
HP:0000518	Cataract	10585	POMT1	ORPHA:588
HP:0000518	Cataract	10585	POMT1	OMIM:236670
HP:0000518	Cataract	10585	POMT1	ORPHA:899
HP:0000518	Cataract	10585	POMT1	ORPHA:370959
HP:0000518	Cataract	229	ALDOB	ORPHA:469
HP:0000518	Cataract	85365	ALG2	ORPHA:79326
HP:0000518	Cataract	85365	ALG2	OMIM:607906
HP:0000518	Cataract	285362	SUMF1	ORPHA:585
HP:0000518	Cataract	8517	IKBKG	ORPHA:464
HP:0000518	Cataract	8517	IKBKG	OMIM:308300
HP:0000518	Cataract	55210	ATAD3A	ORPHA:496790
HP:0000518	Cataract	5605	MAP2K2	OMIM:615280
HP:0000518	Cataract	253959	RALGAPA1	OMIM:618797
HP:0000518	Cataract	2232	FDXR	ORPHA:543470
HP:0000518	Cataract	4285	MIPEP	OMIM:617228
HP:0000518	Cataract	6121	RPE65	OMIM:204100
HP:0000518	Cataract	6121	RPE65	ORPHA:791
HP:0000518	Cataract	6121	RPE65	ORPHA:65
HP:0000518	Cataract	9562	MINPP1	OMIM:619527
HP:0000518	Cataract	26154	ABCA12	ORPHA:457
HP:0000518	Cataract	5373	PMM2	ORPHA:79318
HP:0000518	Cataract	5727	PTCH1	ORPHA:377
HP:0000518	Cataract	5727	PTCH1	OMIM:109400
HP:0000518	Cataract	5727	PTCH1	ORPHA:77301
HP:0000518	Cataract	8643	PTCH2	ORPHA:377
HP:0000518	Cataract	51684	SUFU	ORPHA:377
HP:0000518	Cataract	57724	EPG5	OMIM:242840
HP:0000518	Cataract	57724	EPG5	ORPHA:1493
HP:0000518	Cataract	55739	NAXD	OMIM:618321
HP:0000518	Cataract	326	AIRE	OMIM:240300
HP:0000518	Cataract	326	AIRE	ORPHA:3453
HP:0000518	Cataract	57479	PRR12	OMIM:619539
HP:0000518	Cataract	5741	PTH	OMIM:146200
HP:0000518	Cataract	4052	LTBP1	ORPHA:90349
HP:0000518	Cataract	30008	EFEMP2	ORPHA:90349
HP:0000518	Cataract	10516	FBLN5	ORPHA:90349
HP:0000518	Cataract	2303	FOXC2	ORPHA:33001
HP:0000518	Cataract	2317	FLNB	OMIM:272460
HP:0000518	Cataract	10195	ALG3	ORPHA:79321
HP:0000518	Cataract	64127	NOD2	ORPHA:90340
HP:0000518	Cataract	64127	NOD2	OMIM:186580
HP:0000518	Cataract	2778	GNAS	ORPHA:79443
HP:0000518	Cataract	2778	GNAS	ORPHA:79444
HP:0000518	Cataract	2778	GNAS	ORPHA:94089
HP:0000518	Cataract	2778	GNAS	OMIM:612463
HP:0000518	Cataract	2778	GNAS	OMIM:612462
HP:0000518	Cataract	2778	GNAS	OMIM:103580
HP:0000518	Cataract	84295	PHF6	ORPHA:127
HP:0000518	Cataract	79053	ALG8	ORPHA:79325
HP:0000518	Cataract	9896	FIG4	OMIM:216340
HP:0000518	Cataract	9896	FIG4	ORPHA:3472
HP:0000518	Cataract	257	ALX3	OMIM:136760
HP:0000518	Cataract	257	ALX3	ORPHA:391474
HP:0000518	Cataract	23676	SMPX	OMIM:301075
HP:0000518	Cataract	404672	GTF2H5	OMIM:616395
HP:0000518	Cataract	1387	CREBBP	OMIM:618332
HP:0000518	Cataract	1387	CREBBP	ORPHA:353281
HP:0000518	Cataract	1387	CREBBP	OMIM:180849
HP:0000518	Cataract	1387	CREBBP	ORPHA:353277
HP:0000518	Cataract	9742	IFT140	OMIM:266920
HP:0000518	Cataract	9742	IFT140	ORPHA:791
HP:0000518	Cataract	9742	IFT140	ORPHA:65
HP:0000518	Cataract	58497	PRUNE1	OMIM:617481
HP:0000518	Cataract	58497	PRUNE1	ORPHA:544469
HP:0000518	Cataract	3980	LIG3	OMIM:619780
HP:0000518	Cataract	26173	INTS1	OMIM:618571
HP:0000518	Cataract	84695	LOXL3	OMIM:619781
HP:0000518	Cataract	84695	LOXL3	ORPHA:250984
HP:0000518	Cataract	22930	RAB3GAP1	OMIM:619420
HP:0000518	Cataract	22930	RAB3GAP1	ORPHA:1387
HP:0000518	Cataract	22930	RAB3GAP1	ORPHA:2510
HP:0000518	Cataract	84188	FAR1	OMIM:616154
HP:0000518	Cataract	84188	FAR1	OMIM:619338
HP:0000518	Cataract	3000	GUCY2D	OMIM:204000
HP:0000518	Cataract	3000	GUCY2D	ORPHA:65
HP:0000518	Cataract	29968	PSAT1	OMIM:616038
HP:0000518	Cataract	27429	HTRA2	OMIM:617248
HP:0000518	Cataract	389827	MYMK	OMIM:254940
HP:0000518	Cataract	149233	IL23R	ORPHA:117
HP:0000518	Cataract	6775	STAT4	ORPHA:117
HP:0000518	Cataract	6775	STAT4	ORPHA:85410
HP:0000518	Cataract	3586	IL10	ORPHA:117
HP:0000518	Cataract	4210	MEFV	ORPHA:117
HP:0000518	Cataract	1230	CCR1	ORPHA:117
HP:0000518	Cataract	355	FAS	ORPHA:117
HP:0000518	Cataract	355	FAS	ORPHA:3437
HP:0000518	Cataract	3592	IL12A	ORPHA:117
HP:0000518	Cataract	101928376	IL12A-AS1	ORPHA:117
HP:0000518	Cataract	3106	HLA-B	ORPHA:117
HP:0000518	Cataract	7099	TLR4	ORPHA:117
HP:0000518	Cataract	3459	IFNGR1	ORPHA:117
HP:0000518	Cataract	720	C4A	ORPHA:117
HP:0000518	Cataract	337867	UBAC2	ORPHA:117
HP:0000518	Cataract	51752	ERAP1	ORPHA:117
HP:0000518	Cataract	8302	KLRC4	ORPHA:117
HP:0000518	Cataract	9949	AMMECR1	OMIM:300990
HP:0000518	Cataract	291	SLC25A4	ORPHA:254892
HP:0000518	Cataract	291	SLC25A4	ORPHA:1369
HP:0000518	Cataract	291	SLC25A4	OMIM:615418
HP:0000518	Cataract	5428	POLG	ORPHA:254892
HP:0000518	Cataract	5428	POLG	OMIM:157640
HP:0000518	Cataract	5428	POLG	OMIM:607459
HP:0000518	Cataract	5428	POLG	ORPHA:70595
HP:0000518	Cataract	56652	TWNK	ORPHA:254892
HP:0000518	Cataract	56652	TWNK	OMIM:609286
HP:0000518	Cataract	56652	TWNK	OMIM:607459
HP:0000518	Cataract	56652	TWNK	ORPHA:70595
HP:0000518	Cataract	11232	POLG2	ORPHA:254892
HP:0000518	Cataract	50484	RRM2B	ORPHA:254892
HP:0000518	Cataract	50484	RRM2B	OMIM:268315
HP:0000518	Cataract	9361	LONP1	OMIM:600373
HP:0000518	Cataract	9361	LONP1	ORPHA:1458
HP:0000518	Cataract	3912	LAMB1	OMIM:615191
HP:0000518	Cataract	8504	PEX3	OMIM:617370
HP:0000518	Cataract	8504	PEX3	ORPHA:772
HP:0000518	Cataract	8504	PEX3	ORPHA:44
HP:0000518	Cataract	8504	PEX3	OMIM:614882
HP:0000518	Cataract	8504	PEX3	ORPHA:912
HP:0000518	Cataract	6247	RS1	ORPHA:792
HP:0000518	Cataract	92840	REEP6	ORPHA:791
HP:0000518	Cataract	6094	ROM1	ORPHA:791
HP:0000518	Cataract	6017	RLBP1	ORPHA:791
HP:0000518	Cataract	7401	CLRN1	ORPHA:791
HP:0000518	Cataract	7401	CLRN1	ORPHA:231183
HP:0000518	Cataract	24	ABCA4	ORPHA:791
HP:0000518	Cataract	130557	ZNF513	ORPHA:791
HP:0000518	Cataract	92211	CDHR1	ORPHA:791
HP:0000518	Cataract	23568	ARL2BP	ORPHA:791
HP:0000518	Cataract	54806	AHI1	ORPHA:791
HP:0000518	Cataract	6101	RP1	ORPHA:791
HP:0000518	Cataract	3419	IDH3A	ORPHA:791
HP:0000518	Cataract	4751	NEK2	ORPHA:791
HP:0000518	Cataract	346007	EYS	ORPHA:791
HP:0000518	Cataract	8100	IFT88	ORPHA:791
HP:0000518	Cataract	23020	SNRNP200	ORPHA:791
HP:0000518	Cataract	762	CA4	ORPHA:791
HP:0000518	Cataract	138050	HGSNAT	ORPHA:791
HP:0000518	Cataract	196	AHR	ORPHA:791
HP:0000518	Cataract	3614	IMPDH1	ORPHA:791
HP:0000518	Cataract	3614	IMPDH1	ORPHA:65
HP:0000518	Cataract	123016	TTC8	ORPHA:791
HP:0000518	Cataract	6103	RPGR	ORPHA:791
HP:0000518	Cataract	1406	CRX	ORPHA:791
HP:0000518	Cataract	1406	CRX	OMIM:613829
HP:0000518	Cataract	1406	CRX	ORPHA:65
HP:0000518	Cataract	5148	PDE6G	ORPHA:791
HP:0000518	Cataract	26160	IFT172	ORPHA:791
HP:0000518	Cataract	26121	PRPF31	ORPHA:791
HP:0000518	Cataract	583	BBS2	ORPHA:791
HP:0000518	Cataract	4117	MAK	ORPHA:791
HP:0000518	Cataract	25794	FSCN2	ORPHA:791
HP:0000518	Cataract	375298	CERKL	ORPHA:791
HP:0000518	Cataract	3420	IDH3B	ORPHA:791
HP:0000518	Cataract	57670	KIAA1549	ORPHA:791
HP:0000518	Cataract	7275	TUB	ORPHA:791
HP:0000518	Cataract	24148	PRPF6	ORPHA:791
HP:0000518	Cataract	23418	CRB1	ORPHA:791
HP:0000518	Cataract	23418	CRB1	OMIM:613835
HP:0000518	Cataract	23418	CRB1	ORPHA:65
HP:0000518	Cataract	10461	MERTK	ORPHA:791
HP:0000518	Cataract	57709	SLC7A14	ORPHA:791
HP:0000518	Cataract	768206	PRCD	ORPHA:791
HP:0000518	Cataract	7399	USH2A	ORPHA:791
HP:0000518	Cataract	7399	USH2A	ORPHA:231178
HP:0000518	Cataract	23370	ARHGEF18	ORPHA:791
HP:0000518	Cataract	5949	RBP3	ORPHA:791
HP:0000518	Cataract	6010	RHO	ORPHA:791
HP:0000518	Cataract	6010	RHO	OMIM:613731
HP:0000518	Cataract	10002	NR2E3	ORPHA:791
HP:0000518	Cataract	10002	NR2E3	OMIM:268100
HP:0000518	Cataract	9227	LRAT	ORPHA:791
HP:0000518	Cataract	9227	LRAT	ORPHA:65
HP:0000518	Cataract	84140	FAM161A	ORPHA:791
HP:0000518	Cataract	55812	SPATA7	ORPHA:791
HP:0000518	Cataract	55812	SPATA7	ORPHA:65
HP:0000518	Cataract	403	ARL3	ORPHA:791
HP:0000518	Cataract	5145	PDE6A	ORPHA:791
HP:0000518	Cataract	10210	TOPORS	ORPHA:791
HP:0000518	Cataract	8842	PROM1	ORPHA:791
HP:0000518	Cataract	9128	PRPF4	ORPHA:791
HP:0000518	Cataract	145226	RDH12	ORPHA:791
HP:0000518	Cataract	145226	RDH12	ORPHA:65
HP:0000518	Cataract	50939	IMPG2	ORPHA:791
HP:0000518	Cataract	8481	OFD1	ORPHA:791
HP:0000518	Cataract	49855	SCAPER	ORPHA:791
HP:0000518	Cataract	2979	GUCA1B	ORPHA:791
HP:0000518	Cataract	1259	CNGA1	ORPHA:791
HP:0000518	Cataract	1258	CNGB1	ORPHA:791
HP:0000518	Cataract	60509	AGBL5	ORPHA:791
HP:0000518	Cataract	5961	PRPH2	ORPHA:791
HP:0000518	Cataract	388939	PCARE	ORPHA:791
HP:0000518	Cataract	7439	BEST1	ORPHA:791
HP:0000518	Cataract	9785	DHX38	ORPHA:791
HP:0000518	Cataract	9785	DHX38	OMIM:618220
HP:0000518	Cataract	7287	TULP1	ORPHA:791
HP:0000518	Cataract	7287	TULP1	ORPHA:65
HP:0000518	Cataract	5995	RGR	ORPHA:791
HP:0000518	Cataract	9129	PRPF3	ORPHA:791
HP:0000518	Cataract	55975	KLHL7	ORPHA:791
HP:0000518	Cataract	3617	IMPG1	ORPHA:791
HP:0000518	Cataract	94137	RP1L1	ORPHA:791
HP:0000518	Cataract	5158	PDE6B	ORPHA:791
HP:0000518	Cataract	5158	PDE6B	OMIM:613801
HP:0000518	Cataract	6102	RP2	ORPHA:791
HP:0000518	Cataract	6102	RP2	OMIM:312600
HP:0000518	Cataract	55857	KIZ	ORPHA:791
HP:0000518	Cataract	64218	SEMA4A	ORPHA:791
HP:0000518	Cataract	4901	NRL	ORPHA:791
HP:0000518	Cataract	157657	CFAP418	ORPHA:791
HP:0000518	Cataract	157657	CFAP418	OMIM:614500
HP:0000518	Cataract	10594	PRPF8	ORPHA:791
HP:0000518	Cataract	6295	SAG	ORPHA:791
HP:0000518	Cataract	79947	DHDDS	ORPHA:791
HP:0000518	Cataract	51422	PRKAG2	OMIM:261740
HP:0000518	Cataract	1859	DYRK1A	ORPHA:268261
HP:0000518	Cataract	4598	MVK	ORPHA:29
HP:0000518	Cataract	4598	MVK	OMIM:610377
HP:0000518	Cataract	160418	TMTC3	OMIM:617255
HP:0000518	Cataract	79876	UBA5	OMIM:617133
HP:0000518	Cataract	335	APOA1	OMIM:618463
HP:0000518	Cataract	1798	DPAGT1	OMIM:608093
HP:0000518	Cataract	5309	PITX3	OMIM:610623
HP:0000518	Cataract	8675	STX16	ORPHA:94089
HP:0000518	Cataract	1605	DAG1	ORPHA:370997
HP:0000518	Cataract	1605	DAG1	ORPHA:899
HP:0000518	Cataract	1605	DAG1	OMIM:616538
HP:0000518	Cataract	10733	PLK4	OMIM:616171
HP:0000518	Cataract	1294	COL7A1	OMIM:226600
HP:0000518	Cataract	4312	MMP1	OMIM:226600
HP:0000518	Cataract	54765	TRIM44	OMIM:617142
HP:0000518	Cataract	54765	TRIM44	ORPHA:250923
HP:0000518	Cataract	26610	ELP4	OMIM:617141
HP:0000518	Cataract	5053	PAH	OMIM:261600
HP:0000518	Cataract	5053	PAH	ORPHA:79254
HP:0000518	Cataract	2033	EP300	ORPHA:353284
HP:0000518	Cataract	2033	EP300	OMIM:180849
HP:0000518	Cataract	2250	FGF5	OMIM:190330
HP:0000518	Cataract	4041	LRP5	OMIM:259770
HP:0000518	Cataract	4041	LRP5	ORPHA:891
HP:0000518	Cataract	2068	ERCC2	OMIM:610756
HP:0000518	Cataract	2068	ERCC2	OMIM:601675
HP:0000518	Cataract	2068	ERCC2	ORPHA:910
HP:0000518	Cataract	2068	ERCC2	ORPHA:1466
HP:0000518	Cataract	2068	ERCC2	OMIM:278730
HP:0000518	Cataract	1760	DMPK	OMIM:160900
HP:0000518	Cataract	1760	DMPK	ORPHA:589821
HP:0000518	Cataract	4952	OCRL	ORPHA:534
HP:0000518	Cataract	84892	POMGNT2	ORPHA:899
HP:0000518	Cataract	1282	COL4A1	ORPHA:899
HP:0000518	Cataract	729920	CRPPA	ORPHA:899
HP:0000518	Cataract	729920	CRPPA	OMIM:614643
HP:0000518	Cataract	10329	RXYLT1	ORPHA:899
HP:0000518	Cataract	11041	B4GAT1	ORPHA:899
HP:0000518	Cataract	4942	OAT	ORPHA:414
HP:0000518	Cataract	147409	DSG4	ORPHA:573
HP:0000518	Cataract	3892	KRT86	ORPHA:573
HP:0000518	Cataract	3889	KRT83	ORPHA:573
HP:0000518	Cataract	3887	KRT81	ORPHA:573
HP:0000518	Cataract	10059	DNM1L	ORPHA:98673
HP:0000518	Cataract	4976	OPA1	ORPHA:98673
HP:0000518	Cataract	28982	FLVCR1	ORPHA:88628
HP:0000518	Cataract	28982	FLVCR1	OMIM:609033
HP:0000518	Cataract	63925	ZNF335	OMIM:615095
HP:0000518	Cataract	112939	NACC1	OMIM:617393
HP:0000518	Cataract	92255	LMBRD2	OMIM:619694
HP:0000518	Cataract	3756	KCNH1	OMIM:135500
HP:0000518	Cataract	3756	KCNH1	ORPHA:3473
HP:0000518	Cataract	91851	CHRDL1	OMIM:309300
HP:0000518	Cataract	3913	LAMB2	OMIM:609049
HP:0000518	Cataract	1312	COMT	ORPHA:567
HP:0000518	Cataract	221037	JMJD1C	ORPHA:567
HP:0000518	Cataract	2812	GP1BB	ORPHA:567
HP:0000518	Cataract	6239	RREB1	ORPHA:567
HP:0000518	Cataract	6899	TBX1	ORPHA:567
HP:0000518	Cataract	7290	HIRA	ORPHA:567
HP:0000518	Cataract	9632	SEC24C	ORPHA:567
HP:0000518	Cataract	7353	UFD1	ORPHA:567
HP:0000518	Cataract	421	ARVCF	ORPHA:567
HP:0000518	Cataract	55750	AGK	OMIM:212350
HP:0000518	Cataract	55750	AGK	ORPHA:1369
HP:0000518	Cataract	2717	GLA	ORPHA:324
HP:0000518	Cataract	1009	CDH11	OMIM:211380
HP:0000518	Cataract	8260	NAA10	ORPHA:568
HP:0000518	Cataract	444	ASPH	OMIM:601552
HP:0000518	Cataract	10483	SEC23B	ORPHA:201
HP:0000518	Cataract	6390	SDHB	ORPHA:201
HP:0000518	Cataract	6392	SDHD	ORPHA:201
HP:0000518	Cataract	6391	SDHC	ORPHA:201
HP:0000518	Cataract	207	AKT1	ORPHA:201
HP:0000518	Cataract	207	AKT1	ORPHA:744
HP:0000518	Cataract	207	AKT1	OMIM:615109
HP:0000518	Cataract	205717	USF3	ORPHA:201
HP:0000518	Cataract	5290	PIK3CA	ORPHA:201
HP:0000518	Cataract	5290	PIK3CA	OMIM:615108
HP:0000518	Cataract	100144748	KLLN	ORPHA:201
HP:0000518	Cataract	84314	TMEM107	ORPHA:564
HP:0000518	Cataract	26123	TCTN3	ORPHA:564
HP:0000518	Cataract	79867	TCTN2	ORPHA:564
HP:0000518	Cataract	80776	B9D2	ORPHA:564
HP:0000518	Cataract	79600	TCTN1	ORPHA:564
HP:0000518	Cataract	57096	RPGRIP1	ORPHA:564
HP:0000518	Cataract	57096	RPGRIP1	OMIM:613826
HP:0000518	Cataract	57096	RPGRIP1	ORPHA:65
HP:0000518	Cataract	79848	CSPP1	ORPHA:564
HP:0000518	Cataract	80184	CEP290	ORPHA:564
HP:0000518	Cataract	80184	CEP290	ORPHA:3156
HP:0000518	Cataract	80184	CEP290	ORPHA:65
HP:0000518	Cataract	51259	TMEM216	ORPHA:564
HP:0000518	Cataract	57545	CC2D2A	ORPHA:564
HP:0000518	Cataract	57545	CC2D2A	OMIM:612285
HP:0000518	Cataract	79583	TMEM231	ORPHA:564
HP:0000518	Cataract	91147	TMEM67	ORPHA:564
HP:0000518	Cataract	79770	TXNDC15	ORPHA:564
HP:0000518	Cataract	27077	B9D1	ORPHA:564
HP:0000518	Cataract	23322	RPGRIP1L	ORPHA:564
HP:0000518	Cataract	54903	MKS1	ORPHA:564
HP:0000518	Cataract	65062	TMEM237	ORPHA:564
HP:0000518	Cataract	2583	B4GALNT1	ORPHA:101006
HP:0000518	Cataract	372	ARCN1	OMIM:617164
HP:0000518	Cataract	11342	RNF13	OMIM:618379
HP:0000518	Cataract	11342	RNF13	ORPHA:544503
HP:0000518	Cataract	2071	ERCC3	OMIM:610651
HP:0000518	Cataract	2071	ERCC3	ORPHA:910
HP:0000518	Cataract	79644	SRD5A3	OMIM:612713
HP:0000518	Cataract	79644	SRD5A3	ORPHA:324737
HP:0000518	Cataract	79644	SRD5A3	OMIM:612379
HP:0000518	Cataract	2707	GJB3	ORPHA:317
HP:0000518	Cataract	2531	KDSR	ORPHA:317
HP:0000518	Cataract	127534	GJB4	ORPHA:317
HP:0000518	Cataract	4990	SIX6	OMIM:206900
HP:0000518	Cataract	4990	SIX6	OMIM:212550
HP:0000518	Cataract	6657	SOX2	OMIM:206900
HP:0000518	Cataract	6297	SALL2	OMIM:216820
HP:0000518	Cataract	64374	SIL1	ORPHA:559
HP:0000518	Cataract	51763	INPP5K	ORPHA:559
HP:0000518	Cataract	51763	INPP5K	OMIM:617404
HP:0000518	Cataract	56244	BTNL2	ORPHA:797
HP:0000518	Cataract	3123	HLA-DRB1	ORPHA:797
HP:0000518	Cataract	145173	B3GLCT	OMIM:261540
HP:0000518	Cataract	145173	B3GLCT	ORPHA:709
HP:0000518	Cataract	6711	SPTBN1	OMIM:619475
HP:0000518	Cataract	1286	COL4A4	OMIM:203780
HP:0000518	Cataract	10413	YAP1	OMIM:120433
HP:0000518	Cataract	10413	YAP1	ORPHA:1473
HP:0000518	Cataract	526	ATP6V1B2	ORPHA:79500
HP:0000518	Cataract	526	ATP6V1B2	ORPHA:3473
HP:0000518	Cataract	57465	TBC1D24	ORPHA:79500
HP:0000518	Cataract	57465	TBC1D24	OMIM:220500
HP:0000518	Cataract	1412	CRYBA2	OMIM:115900
HP:0000518	Cataract	8720	MBTPS1	OMIM:618392
HP:0000518	Cataract	25839	COG4	OMIM:618150
HP:0000518	Cataract	25839	COG4	ORPHA:85172
HP:0000518	Cataract	84172	POLR1B	ORPHA:861
HP:0000518	Cataract	9533	POLR1C	ORPHA:861
HP:0000518	Cataract	51082	POLR1D	ORPHA:861
HP:0000518	Cataract	6949	TCOF1	ORPHA:861
HP:0000518	Cataract	8239	USP9X	OMIM:300968
HP:0000518	Cataract	8239	USP9X	ORPHA:480880
HP:0000518	Cataract	57477	SHROOM4	ORPHA:85288
HP:0000518	Cataract	57704	GBA2	ORPHA:320391
HP:0000518	Cataract	57704	GBA2	OMIM:614409
HP:0000518	Cataract	6299	SALL1	ORPHA:857
HP:0000518	Cataract	51339	DACT1	ORPHA:857
HP:0000518	Cataract	3516	RBPJ	ORPHA:974
HP:0000518	Cataract	4851	NOTCH1	ORPHA:974
HP:0000518	Cataract	57514	ARHGAP31	ORPHA:974
HP:0000518	Cataract	57572	DOCK6	ORPHA:974
HP:0000518	Cataract	285203	EOGT	ORPHA:974
HP:0000518	Cataract	54567	DLL4	ORPHA:974
HP:0000518	Cataract	55670	PEX26	ORPHA:772
HP:0000518	Cataract	55670	PEX26	OMIM:614872
HP:0000518	Cataract	55670	PEX26	ORPHA:44
HP:0000518	Cataract	55670	PEX26	ORPHA:912
HP:0000518	Cataract	5824	PEX19	ORPHA:772
HP:0000518	Cataract	5824	PEX19	ORPHA:44
HP:0000518	Cataract	5824	PEX19	ORPHA:912
HP:0000518	Cataract	5828	PEX2	ORPHA:772
HP:0000518	Cataract	5828	PEX2	OMIM:614866
HP:0000518	Cataract	5828	PEX2	ORPHA:44
HP:0000518	Cataract	5828	PEX2	ORPHA:912
HP:0000518	Cataract	9409	PEX16	ORPHA:772
HP:0000518	Cataract	9409	PEX16	OMIM:614877
HP:0000518	Cataract	9409	PEX16	OMIM:614876
HP:0000518	Cataract	9409	PEX16	ORPHA:44
HP:0000518	Cataract	9409	PEX16	ORPHA:912
HP:0000518	Cataract	5190	PEX6	ORPHA:772
HP:0000518	Cataract	5190	PEX6	ORPHA:44
HP:0000518	Cataract	5190	PEX6	ORPHA:912
HP:0000518	Cataract	8799	PEX11B	ORPHA:772
HP:0000518	Cataract	8799	PEX11B	ORPHA:44
HP:0000518	Cataract	8799	PEX11B	ORPHA:912
HP:0000518	Cataract	5193	PEX12	ORPHA:772
HP:0000518	Cataract	5193	PEX12	ORPHA:44
HP:0000518	Cataract	5193	PEX12	ORPHA:912
HP:0000518	Cataract	5194	PEX13	ORPHA:772
HP:0000518	Cataract	5194	PEX13	ORPHA:44
HP:0000518	Cataract	5194	PEX13	OMIM:614885
HP:0000518	Cataract	5194	PEX13	ORPHA:912
HP:0000518	Cataract	5195	PEX14	ORPHA:772
HP:0000518	Cataract	5195	PEX14	ORPHA:44
HP:0000518	Cataract	5195	PEX14	ORPHA:912
HP:0000518	Cataract	5192	PEX10	ORPHA:772
HP:0000518	Cataract	5192	PEX10	ORPHA:44
HP:0000518	Cataract	5192	PEX10	ORPHA:912
HP:0000518	Cataract	627	BDNF	ORPHA:893
HP:0000518	Cataract	5264	PHYH	ORPHA:773
HP:0000518	Cataract	5264	PHYH	OMIM:266500
HP:0000518	Cataract	5191	PEX7	ORPHA:773
HP:0000518	Cataract	5191	PEX7	OMIM:614879
HP:0000518	Cataract	5191	PEX7	OMIM:266500
HP:0000518	Cataract	1499	CTNNB1	ORPHA:891
HP:0000518	Cataract	23554	TSPAN12	ORPHA:891
HP:0000518	Cataract	8322	FZD4	ORPHA:891
HP:0000518	Cataract	8322	FZD4	ORPHA:91495
HP:0000518	Cataract	26137	ZBTB20	ORPHA:3042
HP:0000518	Cataract	10084	PQBP1	OMIM:309500
HP:0000518	Cataract	1315	COPB1	OMIM:619255
HP:0000518	Cataract	284058	KANSL1	OMIM:610443
HP:0000518	Cataract	5557	PRIM1	OMIM:620005
HP:0000518	Cataract	2271	FH	ORPHA:523
HP:0000518	Cataract	5076	PAX2	OMIM:120330
HP:0000518	Cataract	64802	NMNAT1	OMIM:619260
HP:0000518	Cataract	64802	NMNAT1	ORPHA:65
HP:0000518	Cataract	55181	SMG8	OMIM:619268
HP:0000518	Cataract	87178	PNPT1	OMIM:614932
HP:0000518	Cataract	161742	SPRED1	ORPHA:137605
HP:0000518	Cataract	1462	VCAN	OMIM:143200
HP:0000518	Cataract	26146	TRAF3IP1	ORPHA:3156
HP:0000518	Cataract	9657	IQCB1	ORPHA:3156
HP:0000518	Cataract	9657	IQCB1	ORPHA:65
HP:0000518	Cataract	10806	SDCCAG8	ORPHA:3156
HP:0000518	Cataract	27130	INVS	ORPHA:3156
HP:0000518	Cataract	4867	NPHP1	ORPHA:3156
HP:0000518	Cataract	261734	NPHP4	ORPHA:3156
HP:0000518	Cataract	57728	WDR19	ORPHA:3156
HP:0000518	Cataract	57728	WDR19	OMIM:614376
HP:0000518	Cataract	27031	NPHP3	ORPHA:3156
HP:0000518	Cataract	22897	CEP164	ORPHA:3156
HP:0000518	Cataract	9987	HNRNPDL	OMIM:609115
HP:0000518	Cataract	80036	TRPM3	OMIM:620253
HP:0000518	Cataract	6309	SC5D	ORPHA:46059
HP:0000518	Cataract	6309	SC5D	OMIM:607330
HP:0000518	Cataract	3560	IL2RB	ORPHA:85410
HP:0000518	Cataract	79722	ANKRD55	ORPHA:85410
HP:0000518	Cataract	26191	PTPN22	ORPHA:85410
HP:0000518	Cataract	26191	PTPN22	ORPHA:3437
HP:0000518	Cataract	919	CD247	ORPHA:85410
HP:0000518	Cataract	3559	IL2RA	ORPHA:85410
HP:0000518	Cataract	5771	PTPN2	ORPHA:85410
HP:0000518	Cataract	83700	JAM3	OMIM:613730
HP:0000518	Cataract	1593	CYP27A1	OMIM:213700
HP:0000518	Cataract	4758	NEU1	OMIM:256550
HP:0000518	Cataract	4758	NEU1	ORPHA:93399
HP:0000518	Cataract	4758	NEU1	ORPHA:812
HP:0000518	Cataract	4758	NEU1	ORPHA:93400
HP:0000518	Cataract	9839	ZEB2	OMIM:235730
HP:0000518	Cataract	9839	ZEB2	ORPHA:261552
HP:0000518	Cataract	9839	ZEB2	ORPHA:261537
HP:0000518	Cataract	64324	NSD1	ORPHA:821
HP:0000518	Cataract	29072	SETD2	ORPHA:821
HP:0000518	Cataract	29072	SETD2	OMIM:620157
HP:0000518	Cataract	29072	SETD2	OMIM:620155
HP:0000518	Cataract	10297	APC2	ORPHA:821
HP:0000518	Cataract	55112	DYNC2I1	ORPHA:93271
HP:0000518	Cataract	57560	IFT80	ORPHA:93271
HP:0000518	Cataract	57539	WDR35	ORPHA:93271
HP:0000518	Cataract	79659	DYNC2H1	ORPHA:93271
HP:0000518	Cataract	89891	DYNC2I2	ORPHA:93271
HP:0000518	Cataract	4016	LOXL1	OMIM:177650
HP:0000518	Cataract	9442	MED27	OMIM:619286
HP:0000518	Cataract	23600	AMACR	ORPHA:79095
HP:0000518	Cataract	23600	AMACR	OMIM:614307
HP:0000518	Cataract	56623	INPP5E	ORPHA:75858
HP:0000518	Cataract	56623	INPP5E	OMIM:610156
HP:0000518	Cataract	1717	DHCR7	ORPHA:818
HP:0000518	Cataract	1717	DHCR7	OMIM:270400
HP:0000518	Cataract	25782	RAB3GAP2	OMIM:212720
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:1387
HP:0000518	Cataract	25782	RAB3GAP2	OMIM:614225
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:401830
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:2510
HP:0000518	Cataract	30061	SLC40A1	OMIM:606069
HP:0000518	Cataract	4038	LRP4	ORPHA:3258
HP:0000518	Cataract	324	APC	ORPHA:3258
HP:0000518	Cataract	4072	EPCAM	ORPHA:92050
HP:0000518	Cataract	105371045	PERCC1	ORPHA:92050
HP:0000518	Cataract	1716	DGUOK	ORPHA:329314
HP:0000518	Cataract	284252	KCTD1	ORPHA:2036
HP:0000518	Cataract	284252	KCTD1	OMIM:181270
HP:0000518	Cataract	5015	OTX2	OMIM:610125
HP:0000518	Cataract	7555	CNBP	ORPHA:606
HP:0000518	Cataract	55107	ANO1	OMIM:620045
HP:0000518	Cataract	672	BRCA1	ORPHA:84
HP:0000518	Cataract	10459	MAD2L2	ORPHA:84
HP:0000518	Cataract	7516	XRCC2	ORPHA:84
HP:0000518	Cataract	29089	UBE2T	ORPHA:84
HP:0000518	Cataract	675	BRCA2	ORPHA:84
HP:0000518	Cataract	55120	FANCL	ORPHA:84
HP:0000518	Cataract	2177	FANCD2	ORPHA:84
HP:0000518	Cataract	2175	FANCA	ORPHA:84
HP:0000518	Cataract	2187	FANCB	ORPHA:84
HP:0000518	Cataract	2176	FANCC	ORPHA:84
HP:0000518	Cataract	2178	FANCE	ORPHA:84
HP:0000518	Cataract	2188	FANCF	ORPHA:84
HP:0000518	Cataract	2189	FANCG	ORPHA:84
HP:0000518	Cataract	5888	RAD51	ORPHA:84
HP:0000518	Cataract	5889	RAD51C	ORPHA:84
HP:0000518	Cataract	55159	RFWD3	ORPHA:84
HP:0000518	Cataract	83990	BRIP1	ORPHA:84
HP:0000518	Cataract	57697	FANCM	ORPHA:84
HP:0000518	Cataract	79728	PALB2	ORPHA:84
HP:0000518	Cataract	84464	SLX4	ORPHA:84
HP:0000518	Cataract	55215	FANCI	ORPHA:84
HP:0000518	Cataract	7466	WFS1	OMIM:222300
HP:0000518	Cataract	55697	VAC14	ORPHA:3472
HP:0000518	Cataract	9184	BUB3	ORPHA:1052
HP:0000518	Cataract	699	BUB1	ORPHA:1052
HP:0000518	Cataract	9702	CEP57	ORPHA:1052
HP:0000518	Cataract	9319	TRIP13	ORPHA:1052
HP:0000518	Cataract	701	BUB1B	ORPHA:1052
HP:0000518	Cataract	701	BUB1B	OMIM:257300
HP:0000518	Cataract	26090	ABHD12	OMIM:612674
HP:0000518	Cataract	60	ACTB	OMIM:607371
HP:0000518	Cataract	60	ACTB	ORPHA:79107
HP:0000518	Cataract	2301	FOXE3	OMIM:610256
HP:0000518	Cataract	55636	CHD7	OMIM:214800
HP:0000518	Cataract	57167	SALL4	ORPHA:959
HP:0000518	Cataract	57167	SALL4	OMIM:607323
HP:0000518	Cataract	23424	TDRD7	OMIM:613887
HP:0000518	Cataract	25942	SIN3A	OMIM:613406
HP:0000518	Cataract	3782	KCNN3	ORPHA:3473
HP:0000518	Cataract	4853	NOTCH2	ORPHA:955
HP:0000518	Cataract	374393	FAM111B	OMIM:615704
HP:0000518	Cataract	1174	AP1S1	OMIM:609313
HP:0000518	Cataract	26227	PHGDH	OMIM:256520
HP:0000518	Cataract	7840	ALMS1	ORPHA:64
HP:0000518	Cataract	343035	RD3	ORPHA:65
HP:0000518	Cataract	10383	TUBB4B	ORPHA:65
HP:0000518	Cataract	85015	USP45	ORPHA:65
HP:0000518	Cataract	5130	PCYT1A	ORPHA:65
HP:0000518	Cataract	392255	GDF6	ORPHA:65
HP:0000518	Cataract	23746	AIPL1	ORPHA:65
HP:0000518	Cataract	167691	LCA5	ORPHA:65
HP:0000518	Cataract	91754	NEK9	ORPHA:64754
HP:0000518	Cataract	10908	PNPLA6	ORPHA:2377
HP:0000518	Cataract	6804	STX1A	ORPHA:904
HP:0000518	Cataract	7461	CLIP2	ORPHA:904
HP:0000518	Cataract	84277	DNAJC30	ORPHA:904
HP:0000518	Cataract	8468	FKBP6	ORPHA:904
HP:0000518	Cataract	5982	RFC2	ORPHA:904
HP:0000518	Cataract	2969	GTF2I	ORPHA:904
HP:0000518	Cataract	3984	LIMK1	ORPHA:904
HP:0000518	Cataract	9569	GTF2IRD1	ORPHA:904
HP:0000518	Cataract	155382	VPS37D	ORPHA:904
HP:0000518	Cataract	155368	METTL27	ORPHA:904
HP:0000518	Cataract	114049	BUD23	ORPHA:904
HP:0000518	Cataract	7458	EIF4H	ORPHA:904
HP:0000518	Cataract	84163	GTF2IRD2	ORPHA:904
HP:0000518	Cataract	9275	BCL7B	ORPHA:904
HP:0000518	Cataract	26608	TBL2	ORPHA:904
HP:0000518	Cataract	653361	NCF1	ORPHA:904
HP:0000518	Cataract	135886	TMEM270	ORPHA:904
HP:0000518	Cataract	51085	MLXIPL	ORPHA:904
HP:0000518	Cataract	9031	BAZ1B	ORPHA:904
HP:0000518	Cataract	2006	ELN	ORPHA:904
HP:0000518	Cataract	2073	ERCC5	OMIM:278780
HP:0000518	Cataract	2073	ERCC5	ORPHA:910
HP:0000518	Cataract	2073	ERCC5	ORPHA:1466
HP:0000518	Cataract	11128	POLR3A	OMIM:264090
HP:0000518	Cataract	11128	POLR3A	ORPHA:3455
HP:0000518	Cataract	157570	ESCO2	ORPHA:3103
HP:0000518	Cataract	157570	ESCO2	OMIM:268300
HP:0000518	Cataract	55719	SLF2	OMIM:620184
HP:0000518	Cataract	4036	LRP2	OMIM:222448
HP:0000518	Cataract	402	ARL2	OMIM:619082
HP:0000518	Cataract	4094	MAF	ORPHA:1272
HP:0000518	Cataract	4094	MAF	ORPHA:1377
HP:0000518	Cataract	4089	SMAD4	OMIM:139210
HP:0000518	Cataract	4089	SMAD4	ORPHA:2588
HP:0000518	Cataract	2934	GSN	ORPHA:85448
HP:0000518	Cataract	81887	LAS1L	ORPHA:3459
HP:0000518	Cataract	55869	HDAC8	ORPHA:3459
HP:0000518	Cataract	55869	HDAC8	ORPHA:199
HP:0000518	Cataract	182	JAG1	OMIM:118450
HP:0000518	Cataract	5336	PLCG2	OMIM:614878
HP:0000518	Cataract	10165	SLC25A13	ORPHA:247598
HP:0000518	Cataract	3178	HNRNPA1	ORPHA:52430
HP:0000518	Cataract	7415	VCP	ORPHA:52430
HP:0000518	Cataract	3181	HNRNPA2B1	ORPHA:52430
HP:0000518	Cataract	7837	PXDN	OMIM:269400
HP:0000518	Cataract	55129	ANO10	ORPHA:284289
HP:0000518	Cataract	5295	PIK3R1	OMIM:269880
HP:0000518	Cataract	8573	CASK	ORPHA:163937
HP:0000518	Cataract	4053	LTBP2	ORPHA:3449
HP:0000518	Cataract	4088	SMAD3	OMIM:613795
HP:0000518	Cataract	50628	GEMIN4	OMIM:617913
HP:0000518	Cataract	2961	GTF2E2	OMIM:616943
HP:0000518	Cataract	81846	SBF2	ORPHA:99956
HP:0000518	Cataract	3954	LETM1	OMIM:620089
HP:0000518	Cataract	3166	HMX1	OMIM:612109
HP:0000518	Cataract	2702	GJA5	OMIM:612474
HP:0000518	Cataract	2703	GJA8	OMIM:612474
HP:0000518	Cataract	2703	GJA8	ORPHA:1377
HP:0000518	Cataract	1413	CRYBA4	ORPHA:1377
HP:0000518	Cataract	1415	CRYBB2	ORPHA:1377
HP:0000518	Cataract	1414	CRYBB1	ORPHA:1377
HP:0000518	Cataract	1421	CRYGD	ORPHA:1377
HP:0000518	Cataract	1297	COL9A1	ORPHA:250984
HP:0000518	Cataract	1299	COL9A3	ORPHA:250984
HP:0000518	Cataract	27241	BBS9	OMIM:615986
HP:0000518	Cataract	7507	XPA	ORPHA:910
HP:0000518	Cataract	7508	XPC	ORPHA:910
HP:0000518	Cataract	1643	DDB2	ORPHA:910
HP:0000518	Cataract	1288	COL4A6	ORPHA:1018
HP:0000518	Cataract	1287	COL4A5	ORPHA:1018
HP:0000518	Cataract	9158	FIBP	ORPHA:500095
HP:0000518	Cataract	9420	CYP7B1	ORPHA:100986
HP:0000518	Cataract	9420	CYP7B1	OMIM:270800
HP:0000518	Cataract	92482	BBIP1	OMIM:615995
HP:0000518	Cataract	2584	GALK1	OMIM:230200
HP:0000518	Cataract	2584	GALK1	ORPHA:79237
HP:0000518	Cataract	10586	MAB21L2	OMIM:615877
HP:0000518	Cataract	7473	WNT3	ORPHA:3301
HP:0000518	Cataract	7473	WNT3	OMIM:273395
HP:0000518	Cataract	340419	RSPO2	ORPHA:3301
HP:0000518	Cataract	26007	TKFC	ORPHA:1369
HP:0000518	Cataract	26007	TKFC	OMIM:618805
HP:0000518	Cataract	4010	LMX1B	OMIM:161200
HP:0000518	Cataract	83552	MFRP	OMIM:611040
HP:0000518	Cataract	84162	BLTP1	OMIM:617822
HP:0000518	Cataract	3313	HSPA9	OMIM:616854
HP:0000518	Cataract	22880	MORC2	ORPHA:466768
HP:0000518	Cataract	5831	PYCR1	OMIM:614438
HP:0000518	Cataract	387700	SLC16A12	OMIM:612018
HP:0000518	Cataract	4000	LMNA	ORPHA:90153
HP:0000518	Cataract	10651	MTX2	ORPHA:90153
HP:0000518	Cataract	8671	SLC4A4	OMIM:604278
HP:0000518	Cataract	7283	TUBG1	OMIM:615412
HP:0000518	Cataract	2067	ERCC1	ORPHA:1466
HP:0000518	Cataract	5925	RB1	ORPHA:1587
HP:0000518	Cataract	2248	FGF3	ORPHA:2791
HP:0000518	Cataract	1063	CENPF	OMIM:243605
HP:0000518	Cataract	10804	GJB6	OMIM:129500
HP:0000518	Cataract	7045	TGFBI	OMIM:121900
HP:0000518	Cataract	5745	PTH1R	ORPHA:50945
HP:0000518	Cataract	338917	VSX2	OMIM:610092
HP:0000518	Cataract	8985	PLOD3	OMIM:612394
HP:0000518	Cataract	175	AGA	OMIM:208400
HP:0000518	Cataract	80781	COL18A1	ORPHA:1571
HP:0000518	Cataract	5062	PAK2	ORPHA:1571
HP:0000518	Cataract	139285	AMER1	ORPHA:2780
HP:0000518	Cataract	2313	FLI1	ORPHA:2308
HP:0000518	Cataract	23476	BRD4	ORPHA:199
HP:0000518	Cataract	9126	SMC3	ORPHA:199
HP:0000518	Cataract	8243	SMC1A	ORPHA:199
HP:0000518	Cataract	25836	NIPBL	ORPHA:199
HP:0000518	Cataract	5885	RAD21	ORPHA:199
HP:0000518	Cataract	79955	PDZD7	ORPHA:231178
HP:0000518	Cataract	4647	MYO7A	ORPHA:231178
HP:0000518	Cataract	4647	MYO7A	ORPHA:231169
HP:0000518	Cataract	25861	WHRN	ORPHA:231178
HP:0000518	Cataract	84059	ADGRV1	ORPHA:231178
HP:0000518	Cataract	6197	RPS6KA3	ORPHA:192
HP:0000518	Cataract	9150	CTDP1	ORPHA:48431
HP:0000518	Cataract	8092	ALX1	ORPHA:306542
HP:0000518	Cataract	2296	FOXC1	ORPHA:250923
HP:0000518	Cataract	22931	RAB18	OMIM:614222
HP:0000518	Cataract	22931	RAB18	ORPHA:2510
HP:0000518	Cataract	4329	ALDH6A1	OMIM:614105
HP:0000518	Cataract	3704	ITPA	OMIM:616647
HP:0000518	Cataract	4796	TONSL	ORPHA:93357
HP:0000518	Cataract	28957	MRPS28	OMIM:618958
HP:0000518	Cataract	3832	KIF11	ORPHA:2526
HP:0000518	Cataract	3832	KIF11	OMIM:152950
HP:0000518	Cataract	54676	GTPBP2	OMIM:617988
HP:0000518	Cataract	100506658	OCLN	OMIM:251290
HP:0000518	Cataract	617	BCS1L	OMIM:124000
HP:0000518	Cataract	22901	ARSG	ORPHA:231183
HP:0000518	Cataract	4575	MT-TS2	ORPHA:231183
HP:0000518	Cataract	3035	HARS1	ORPHA:231183
HP:0000518	Cataract	84131	CEP78	ORPHA:231183
HP:0000518	Cataract	10558	SPTLC1	OMIM:162400
HP:0000518	Cataract	1376	CPT2	OMIM:608836
HP:0000518	Cataract	652	BMP4	ORPHA:139471
HP:0000518	Cataract	7518	XRCC4	OMIM:616541
HP:0000518	Cataract	59341	TRPV4	ORPHA:2635
HP:0000518	Cataract	387	RHOA	OMIM:618727
HP:0000518	Cataract	4668	NAGA	ORPHA:79281
HP:0000518	Cataract	9939	RBM8A	OMIM:274000
HP:0000518	Cataract	1302	COL11A2	ORPHA:1427
HP:0000518	Cataract	128637	TBC1D20	ORPHA:2510
HP:0000518	Cataract	9130	FAM50A	OMIM:300261
HP:0000518	Cataract	64072	CDH23	ORPHA:231169
HP:0000518	Cataract	10083	USH1C	ORPHA:231169
HP:0000518	Cataract	124590	USH1G	ORPHA:231169
HP:0000518	Cataract	83715	ESPN	ORPHA:231169
HP:0000518	Cataract	10518	CIB2	ORPHA:231169
HP:0000518	Cataract	65217	PCDH15	ORPHA:231169
HP:0000518	Cataract	80169	CTC1	ORPHA:1775
HP:0000518	Cataract	26277	TINF2	ORPHA:1775
HP:0000518	Cataract	55651	NHP2	ORPHA:1775
HP:0000518	Cataract	79650	USB1	ORPHA:1775
HP:0000518	Cataract	55135	WRAP53	ORPHA:1775
HP:0000518	Cataract	51750	RTEL1	ORPHA:1775
HP:0000518	Cataract	4869	NPM1	ORPHA:1775
HP:0000518	Cataract	7012	TERC	ORPHA:1775
HP:0000518	Cataract	55505	NOP10	ORPHA:1775
HP:0000518	Cataract	5073	PARN	ORPHA:1775
HP:0000518	Cataract	7015	TERT	ORPHA:1775
HP:0000518	Cataract	7298	TYMS	ORPHA:1775
HP:0000518	Cataract	85378	TUBGCP6	OMIM:251270
HP:0000518	Cataract	523	ATP6V1A	OMIM:617403
HP:0000518	Cataract	27183	VPS4A	OMIM:619273
HP:0000518	Cataract	406987	MIR204	OMIM:616722
HP:0000518	Cataract	55654	TMEM127	OMIM:171300
HP:0000518	Cataract	5979	RET	OMIM:171300
HP:0000518	Cataract	4149	MAX	OMIM:171300
HP:0000518	Cataract	7428	VHL	OMIM:171300
HP:0000518	Cataract	1417	CRYBB3	OMIM:609741
HP:0000518	Cataract	10093	ARPC4	OMIM:620141
HP:0000518	Cataract	23094	SIPA1L3	OMIM:616851
HP:0000518	Cataract	3417	IDH1	ORPHA:99646
HP:0000518	Cataract	4512	MT-CO1	OMIM:540000
HP:0000518	Cataract	4513	MT-CO2	OMIM:540000
HP:0000518	Cataract	4514	MT-CO3	OMIM:540000
HP:0000518	Cataract	4519	MT-CYB	OMIM:540000
HP:0000518	Cataract	4511	MT-TC	OMIM:540000
HP:0000518	Cataract	4574	MT-TS1	OMIM:540000
HP:0000518	Cataract	4558	MT-TF	OMIM:540000
HP:0000518	Cataract	4541	MT-ND6	OMIM:540000
HP:0000518	Cataract	4540	MT-ND5	OMIM:540000
HP:0000518	Cataract	4535	MT-ND1	OMIM:540000
HP:0000518	Cataract	4572	MT-TQ	OMIM:540000
HP:0000518	Cataract	4577	MT-TV	OMIM:540000
HP:0000518	Cataract	4578	MT-TW	OMIM:540000
HP:0000518	Cataract	57589	RIC1	OMIM:618761
HP:0000518	Cataract	23511	NUP188	OMIM:618804
HP:0000518	Cataract	4047	LSS	OMIM:616509
HP:0000518	Cataract	20	ABCA2	OMIM:618808
HP:0000518	Cataract	22872	SEC31A	OMIM:618651
HP:0000518	Cataract	84668	HYCC1	OMIM:610532
HP:0000518	Cataract	84668	HYCC1	ORPHA:85163
HP:0000518	Cataract	1969	EPHA2	OMIM:116600
HP:0000518	Cataract	5702	PSMC3	OMIM:619354
HP:0000518	Cataract	389692	MAFA	OMIM:147630
HP:0000518	Cataract	9894	TELO2	ORPHA:488642
HP:0000518	Cataract	8419	BFSP2	OMIM:611597
HP:0000518	Cataract	84992	PIGY	OMIM:616809
HP:0000518	Cataract	23137	SMC5	OMIM:620185
HP:0000518	Cataract	79813	EHMT1	ORPHA:261652
HP:0000518	Cataract	58508	KMT2C	ORPHA:261652
HP:0000518	Cataract	953	ENTPD1	OMIM:615683
HP:0000518	Cataract	2651	GCNT2	OMIM:116700
HP:0000518	Cataract	3739	KCNA4	OMIM:618284
HP:0000518	Cataract	9197	SLC33A1	OMIM:614482
HP:0000518	Cataract	5286	PIK3C2A	OMIM:618440
HP:0000518	Cataract	5286	PIK3C2A	ORPHA:557003
HP:0000518	Cataract	63901	FAM111A	OMIM:127000
HP:0000518	Cataract	63901	FAM111A	ORPHA:93325
HP:0000518	Cataract	833	CARS1	ORPHA:33364
HP:0000518	Cataract	7737	RNF113A	ORPHA:33364
HP:0000518	Cataract	136647	MPLKIP	ORPHA:33364
HP:0000518	Cataract	6897	TARS1	ORPHA:33364
HP:0000518	Cataract	6135	RPL11	ORPHA:124
HP:0000518	Cataract	6138	RPL15	ORPHA:124
HP:0000518	Cataract	6229	RPS24	ORPHA:124
HP:0000518	Cataract	6125	RPL5	ORPHA:124
HP:0000518	Cataract	6204	RPS10	ORPHA:124
HP:0000518	Cataract	6224	RPS20	ORPHA:124
HP:0000518	Cataract	6165	RPL35A	ORPHA:124
HP:0000518	Cataract	2623	GATA1	ORPHA:124
HP:0000518	Cataract	6223	RPS19	ORPHA:124
HP:0000518	Cataract	6232	RPS27	ORPHA:124
HP:0000518	Cataract	6231	RPS26	ORPHA:124
HP:0000518	Cataract	11224	RPL35	ORPHA:124
HP:0000518	Cataract	6160	RPL31	ORPHA:124
HP:0000518	Cataract	6218	RPS17	ORPHA:124
HP:0000518	Cataract	6201	RPS7	ORPHA:124
HP:0000518	Cataract	6155	RPL27	ORPHA:124
HP:0000518	Cataract	6154	RPL26	ORPHA:124
HP:0000518	Cataract	6210	RPS15A	ORPHA:124
HP:0000518	Cataract	90121	TSR2	ORPHA:124
HP:0000518	Cataract	6141	RPL18	ORPHA:124
HP:0000518	Cataract	6235	RPS29	ORPHA:124
HP:0000518	Cataract	6234	RPS28	ORPHA:124
HP:0000518	Cataract	51816	ADA2	ORPHA:124
HP:0000518	Cataract	7319	UBE2A	ORPHA:163956
HP:0000518	Cataract	6307	MSMO1	OMIM:616834
HP:0000518	Cataract	2108	ETFA	OMIM:231680
HP:0000518	Cataract	2109	ETFB	OMIM:231680
HP:0000518	Cataract	2110	ETFDH	OMIM:231680
HP:0000518	Cataract	64682	ANAPC1	ORPHA:221008
HP:0000518	Cataract	51099	ABHD5	ORPHA:98907
HP:0000518	Cataract	51099	ABHD5	OMIM:275630
HP:0000518	Cataract	1545	CYP1B1	ORPHA:708
HP:0000518	Cataract	5308	PITX2	ORPHA:708
HP:0000518	Cataract	9445	ITM2B	OMIM:117300
HP:0000518	Cataract	4204	MECP2	OMIM:300055
HP:0000518	Cataract	23394	ADNP	ORPHA:404448
HP:0000518	Cataract	7053	TGM3	OMIM:617251
HP:0000518	Cataract	221496	LEMD2	OMIM:212500
HP:0000518	Cataract	9653	HS2ST1	OMIM:619194
HP:0000518	Cataract	3299	HSF4	OMIM:116800
HP:0000518	Cataract	10682	EBP	OMIM:300960
HP:0000518	Cataract	406960	MIR184	OMIM:614303
HP:0000518	Cataract	1285	COL4A3	OMIM:104200
HP:0000518	Cataract	57551	TAOK1	OMIM:619575
HP:0000518	Cataract	1419	CRYGB	OMIM:615188
HP:0000518	Cataract	3982	LIM2	OMIM:615277
HP:0000518	Cataract	84265	POLR3GL	OMIM:619234
HP:0000518	Cataract	170692	ADAMTS18	OMIM:615458
HP:0000518	Cataract	755	CFAP410	OMIM:617547
HP:0000518	Cataract	146862	UNC45B	OMIM:616279
HP:0000518	Cataract	4627	MYH9	ORPHA:182050
HP:0000518	Cataract	4507	MTAP	OMIM:112250
HP:0000518	Cataract	4771	NF2	OMIM:101000
HP:0000518	Cataract	84816	RTN4IP1	OMIM:616732
HP:0000518	Cataract	4810	NHS	OMIM:302350
HP:0000518	Cataract	10484	SEC23A	OMIM:607812
HP:0000518	Cataract	10484	SEC23A	ORPHA:50814
HP:0000518	Cataract	7431	VIM	OMIM:116300
HP:0000518	Cataract	35	ACADS	OMIM:201470
HP:0000518	Cataract	9401	RECQL4	OMIM:268400
HP:0000518	Cataract	1411	CRYBA1	OMIM:600881
HP:0000518	Cataract	2700	GJA3	OMIM:601885
HP:0000518	Cataract	8443	GNPAT	OMIM:222765
HP:0000518	Cataract	6513	SLC2A1	ORPHA:168577
HP:0000518	Cataract	81570	CLPB	OMIM:616271
HP:0000518	Cataract	8314	BAP1	ORPHA:39044
HP:0000518	Cataract	57105	CYSLTR2	ORPHA:39044
HP:0000518	Cataract	2776	GNAQ	ORPHA:39044
HP:0000518	Cataract	2767	GNA11	ORPHA:39044
HP:0000518	Cataract	23451	SF3B1	ORPHA:39044
HP:0000518	Cataract	1427	CRYGS	OMIM:116100
HP:0000518	Cataract	128866	CHMP4B	OMIM:605387
HP:0000518	Cataract	7490	WT1	OMIM:106210
HP:0000518	Cataract	5080	PAX6	OMIM:106210
HP:0000518	Cataract	80207	OPA3	ORPHA:67036
HP:0000518	Cataract	55229	PANK4	OMIM:619593
HP:0000518	Cataract	1420	CRYGC	OMIM:604307
HP:0000518	Cataract	631	BFSP1	OMIM:611391
HP:0000518	Cataract	4284	MIP	OMIM:615274
HP:0000518	Cataract	10216	PRG4	ORPHA:2848
HP:0000518	Cataract	79443	FYCO1	OMIM:610019
HP:0001114	Xanthelasma	255738	PCSK9	OMIM:603776
HP:0001114	Xanthelasma	5159	PDGFRB	OMIM:616592
HP:0001114	Xanthelasma	338	APOB	OMIM:144010
HP:0001114	Xanthelasma	336	APOA2	OMIM:143890
HP:0001114	Xanthelasma	2053	EPHX2	OMIM:143890
HP:0001114	Xanthelasma	10842	PPP1R17	OMIM:143890
HP:0001114	Xanthelasma	2690	GHR	OMIM:143890
HP:0001114	Xanthelasma	3949	LDLR	OMIM:143890
HP:0001114	Xanthelasma	2538	G6PC1	OMIM:232200
HP:0001114	Xanthelasma	1593	CYP27A1	OMIM:213700
HP:0001114	Xanthelasma	4023	LPL	OMIM:144250
HP:0001114	Xanthelasma	7274	TTPA	OMIM:277460
HP:0001114	Xanthelasma	161742	SPRED1	ORPHA:137605
HP:0001114	Xanthelasma	2542	SLC37A4	OMIM:232220
HP:0001114	Xanthelasma	2542	SLC37A4	OMIM:232240
HP:0001114	Xanthelasma	2542	SLC37A4	ORPHA:79259
HP:0001114	Xanthelasma	348	APOE	ORPHA:412
HP:0001114	Xanthelasma	64241	ABCG8	OMIM:210250
HP:0001114	Xanthelasma	335	APOA1	ORPHA:425
HP:0001114	Xanthelasma	19	ABCA1	ORPHA:425
HP:0001115	Posterior polar cataract	5309	PITX3	OMIM:107250
HP:0001115	Posterior polar cataract	1410	CRYAB	OMIM:613763
HP:0001115	Posterior polar cataract	26137	ZBTB20	OMIM:259050
HP:0001115	Posterior polar cataract	9445	ITM2B	OMIM:117300
HP:0001115	Posterior polar cataract	324	APC	ORPHA:261584
HP:0001115	Posterior polar cataract	1969	EPHA2	OMIM:116600
HP:0001115	Posterior polar cataract	583	BBS2	OMIM:616562
HP:0001115	Posterior polar cataract	7431	VIM	OMIM:116300
HP:0001116	Macular coloboma	64802	NMNAT1	OMIM:619260
HP:0001116	Macular coloboma	64802	NMNAT1	OMIM:608553
HP:0001116	Macular coloboma	5631	PRPS1	ORPHA:423479
HP:0001116	Macular coloboma	9227	LRAT	ORPHA:364055
HP:0001116	Macular coloboma	55812	SPATA7	ORPHA:364055
HP:0001116	Macular coloboma	6121	RPE65	ORPHA:364055
HP:0001116	Macular coloboma	167691	LCA5	ORPHA:364055
HP:0001116	Macular coloboma	149461	CLDN19	ORPHA:2196
HP:0001116	Macular coloboma	149461	CLDN19	OMIM:248190
HP:0001116	Macular coloboma	55714	TENM3	OMIM:615145
HP:0001116	Macular coloboma	9785	DHX38	OMIM:618220
HP:0001116	Macular coloboma	25974	MMACHC	ORPHA:79282
HP:0001116	Macular coloboma	23418	CRB1	OMIM:613835
HP:0001117	Sudden loss of visual acuity	64072	CDH23	ORPHA:91347
HP:0001117	Sudden loss of visual acuity	64072	CDH23	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	4221	MEN1	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	9049	AIP	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	1499	CTNNB1	ORPHA:54595
HP:0001117	Sudden loss of visual acuity	673	BRAF	ORPHA:54595
HP:0001118	Juvenile cataract	4204	MECP2	OMIM:300055
HP:0001118	Juvenile cataract	23394	ADNP	ORPHA:404448
HP:0001118	Juvenile cataract	7053	TGM3	OMIM:617251
HP:0001118	Juvenile cataract	84188	FAR1	ORPHA:438178
HP:0001118	Juvenile cataract	6711	SPTBN1	OMIM:619475
HP:0001118	Juvenile cataract	1593	CYP27A1	ORPHA:909
HP:0001118	Juvenile cataract	51109	RDH11	ORPHA:436245
HP:0001118	Juvenile cataract	9401	RECQL4	ORPHA:221016
HP:0001118	Juvenile cataract	112939	NACC1	ORPHA:500545
HP:0001118	Juvenile cataract	221496	LEMD2	OMIM:212500
HP:0001118	Juvenile cataract	64682	ANAPC1	OMIM:618625
HP:0001118	Juvenile cataract	64682	ANAPC1	ORPHA:221008
HP:0001119	Keratoglobus	81031	SLC2A10	ORPHA:3342
HP:0001119	Keratoglobus	11107	PRDM5	OMIM:614170
HP:0001119	Keratoglobus	11107	PRDM5	ORPHA:90354
HP:0001119	Keratoglobus	63895	PIEZO2	OMIM:108145
HP:0001119	Keratoglobus	84627	ZNF469	ORPHA:90354
HP:0001119	Keratoglobus	84627	ZNF469	OMIM:229200
HP:0100861	Sclerotic vertebral body	4041	LRP5	ORPHA:2790
HP:0100861	Sclerotic vertebral body	4041	LRP5	OMIM:144750
HP:0100861	Sclerotic vertebral body	1436	CSF1R	OMIM:618476
HP:0100864	Short femoral neck	1280	COL2A1	OMIM:184255
HP:0100864	Short femoral neck	1280	COL2A1	ORPHA:93316
HP:0100864	Short femoral neck	1280	COL2A1	OMIM:609162
HP:0100864	Short femoral neck	1280	COL2A1	ORPHA:94068
HP:0100864	Short femoral neck	1280	COL2A1	ORPHA:166011
HP:0100864	Short femoral neck	2335	FN1	OMIM:184255
HP:0100864	Short femoral neck	1311	COMP	ORPHA:750
HP:0100864	Short femoral neck	1311	COMP	OMIM:132400
HP:0100864	Short femoral neck	6399	TRAPPC2	ORPHA:93284
HP:0100864	Short femoral neck	6399	TRAPPC2	OMIM:313400
HP:0100864	Short femoral neck	65992	DDRGK1	OMIM:602557
HP:0100864	Short femoral neck	9131	AIFM1	OMIM:300232
HP:0100864	Short femoral neck	5885	RAD21	OMIM:614701
HP:0100864	Short femoral neck	89970	RSPRY1	OMIM:616723
HP:0100864	Short femoral neck	89970	RSPRY1	ORPHA:457395
HP:0100864	Short femoral neck	755	CFAP410	OMIM:602271
HP:0100864	Short femoral neck	4796	TONSL	ORPHA:93357
HP:0100864	Short femoral neck	59341	TRPV4	ORPHA:93314
HP:0100864	Short femoral neck	59341	TRPV4	OMIM:113500
HP:0100864	Short femoral neck	91147	TMEM67	OMIM:602152
HP:0100864	Short femoral neck	8720	MBTPS1	OMIM:618392
HP:0100864	Short femoral neck	10651	MTX2	OMIM:619127
HP:0100864	Short femoral neck	6473	SHOX	OMIM:249700
HP:0100864	Short femoral neck	6473	SHOX	ORPHA:2632
HP:0100864	Short femoral neck	23233	EXOC6B	OMIM:618395
HP:0100864	Short femoral neck	8838	CCN6	ORPHA:1159
HP:0100864	Short femoral neck	1836	SLC26A2	ORPHA:93307
HP:0100864	Short femoral neck	10216	PRG4	ORPHA:2848
HP:0100864	Short femoral neck	388015	RTL1	ORPHA:96334
HP:0100864	Short femoral neck	8788	DLK1	ORPHA:96334
HP:0100864	Short femoral neck	55384	MEG3	ORPHA:96334
HP:0100864	Short femoral neck	124583	CANT1	OMIM:251450
HP:0100864	Short femoral neck	124583	CANT1	OMIM:617719
HP:0100864	Short femoral neck	4148	MATN3	OMIM:607078
HP:0100864	Short femoral neck	126792	B3GALT6	OMIM:271640
HP:0100864	Short femoral neck	10940	POP1	OMIM:617396
HP:0100864	Short femoral neck	4318	MMP9	OMIM:613073
HP:0100864	Short femoral neck	84068	SLC10A7	OMIM:618363
HP:0100864	Short femoral neck	5286	PIK3C2A	OMIM:618440
HP:0100864	Short femoral neck	9469	CHST3	OMIM:143095
HP:0100864	Short femoral neck	2261	FGFR3	OMIM:146000
HP:0100864	Short femoral neck	2261	FGFR3	OMIM:100800
HP:0100864	Short femoral neck	1108	CHD4	OMIM:617159
HP:0100864	Short femoral neck	54187	NANS	OMIM:610442
HP:0100864	Short femoral neck	64131	XYLT1	ORPHA:370930
HP:0100864	Short femoral neck	658	BMPR1B	OMIM:609441
HP:0100864	Short femoral neck	91252	SLC39A13	ORPHA:157965
HP:0100864	Short femoral neck	91252	SLC39A13	OMIM:612350
HP:0100864	Short femoral neck	3549	IHH	OMIM:607778
HP:0100864	Short femoral neck	860	RUNX2	OMIM:119600
HP:0100864	Short femoral neck	9742	IFT140	OMIM:266920
HP:0100864	Short femoral neck	80169	CTC1	OMIM:612199
HP:0100864	Short femoral neck	3930	LBR	OMIM:618019
HP:0100864	Short femoral neck	25886	POC1A	OMIM:614813
HP:0100864	Short femoral neck	5830	PEX5	OMIM:616716
HP:0100865	Broad ischia	2137	EXTL3	ORPHA:508533
HP:0100865	Broad ischia	79639	TMEM53	OMIM:619727
HP:0100865	Broad ischia	79796	ALG9	ORPHA:79328
HP:0100865	Broad ischia	3977	LIFR	OMIM:601559
HP:0100865	Broad ischia	1301	COL11A1	OMIM:228520
HP:0100869	Palmar telangiectasia	94	ACVRL1	OMIM:600376
HP:0100869	Palmar telangiectasia	54345	SOX18	ORPHA:69735
HP:0100869	Palmar telangiectasia	54345	SOX18	OMIM:607823
HP:0100869	Palmar telangiectasia	2859	GPR35	ORPHA:171
HP:0100869	Palmar telangiectasia	10507	SEMA4D	ORPHA:171
HP:0100869	Palmar telangiectasia	4485	MST1	ORPHA:171
HP:0100869	Palmar telangiectasia	6925	TCF4	ORPHA:171
HP:0100869	Palmar telangiectasia	3930	LBR	OMIM:613471
HP:0100866	Short iliac bones	57728	WDR19	OMIM:614376
HP:0100866	Short iliac bones	1280	COL2A1	ORPHA:93316
HP:0100866	Short iliac bones	54	ACP5	OMIM:607944
HP:0011336	Bitemporal forceps marks	117581	TWIST2	OMIM:227260
HP:0011336	Bitemporal forceps marks	340665	CYP26C1	OMIM:614974
HP:0011335	Frontal hirsutism	55617	TASP1	OMIM:618950
HP:0011335	Frontal hirsutism	54496	PRMT7	OMIM:617157
HP:0011335	Frontal hirsutism	1387	CREBBP	OMIM:180849
HP:0011335	Frontal hirsutism	2033	EP300	OMIM:180849
HP:0011335	Frontal hirsutism	2316	FLNA	OMIM:309350
HP:0011335	Frontal hirsutism	150468	CKAP2L	OMIM:272440
HP:0011335	Frontal hirsutism	388015	RTL1	ORPHA:96334
HP:0011335	Frontal hirsutism	8788	DLK1	ORPHA:96334
HP:0011335	Frontal hirsutism	55384	MEG3	ORPHA:96334
HP:0011335	Frontal hirsutism	8604	SLC25A12	OMIM:612949
HP:0011334	Facial shape deformation	26281	FGF20	OMIM:615721
HP:0011334	Facial shape deformation	183	AGT	OMIM:267430
HP:0011334	Facial shape deformation	5972	REN	OMIM:267430
HP:0011334	Facial shape deformation	185	AGTR1	OMIM:267430
HP:0011334	Facial shape deformation	1636	ACE	OMIM:267430
HP:0011334	Facial shape deformation	7317	UBA1	ORPHA:1145
HP:0011334	Facial shape deformation	2674	GFRA1	OMIM:619887
HP:0011334	Facial shape deformation	5076	PAX2	ORPHA:97362
HP:0011334	Facial shape deformation	5087	PBX1	ORPHA:97362
HP:0011334	Facial shape deformation	8516	ITGA8	OMIM:191830
HP:0011334	Facial shape deformation	55165	CEP55	OMIM:236500
HP:0011334	Facial shape deformation	27031	NPHP3	OMIM:208540
HP:0011334	Facial shape deformation	5314	PKHD1	OMIM:263200
HP:0011334	Facial shape deformation	4125	MAN2B1	ORPHA:309282
HP:0011334	Facial shape deformation	26275	HIBCH	ORPHA:88639
HP:0011333	Asymmetric crying face	23556	PIGN	ORPHA:280633
HP:0011333	Asymmetric crying face	4094	MAF	ORPHA:1272
HP:0011339	Abnormality of upper lip vermillion	1301	COL11A1	OMIM:154780
HP:0011339	Abnormality of upper lip vermillion	1301	COL11A1	ORPHA:560
HP:0011339	Abnormality of upper lip vermillion	54888	NSUN2	OMIM:611091
HP:0011339	Abnormality of upper lip vermillion	324	APC	ORPHA:261584
HP:0011339	Abnormality of upper lip vermillion	79029	AFG2B	OMIM:619616
HP:0011339	Abnormality of upper lip vermillion	117581	TWIST2	OMIM:227260
HP:0011339	Abnormality of upper lip vermillion	51126	NAA20	OMIM:619717
HP:0011339	Abnormality of upper lip vermillion	6201	RPS7	OMIM:612563
HP:0011339	Abnormality of upper lip vermillion	114034	TOE1	OMIM:614969
HP:0011339	Abnormality of upper lip vermillion	114034	TOE1	ORPHA:284339
HP:0011339	Abnormality of upper lip vermillion	79228	THOC6	ORPHA:363444
HP:0011339	Abnormality of upper lip vermillion	9562	MINPP1	ORPHA:284339
HP:0011339	Abnormality of upper lip vermillion	672	BRCA1	OMIM:617883
HP:0011339	Abnormality of upper lip vermillion	79639	TMEM53	OMIM:619727
HP:0011339	Abnormality of upper lip vermillion	22858	CILK1	OMIM:612651
HP:0011339	Abnormality of upper lip vermillion	6309	SC5D	OMIM:607330
HP:0011339	Abnormality of upper lip vermillion	8243	SMC1A	OMIM:300590
HP:0011339	Abnormality of upper lip vermillion	8243	SMC1A	OMIM:301044
HP:0011339	Abnormality of upper lip vermillion	158	ADSL	OMIM:103050
HP:0011339	Abnormality of upper lip vermillion	158	ADSL	ORPHA:46
HP:0011339	Abnormality of upper lip vermillion	11253	MAN1B1	ORPHA:397941
HP:0011339	Abnormality of upper lip vermillion	11253	MAN1B1	OMIM:614202
HP:0011339	Abnormality of upper lip vermillion	23394	ADNP	ORPHA:404448
HP:0011339	Abnormality of upper lip vermillion	23394	ADNP	OMIM:615873
HP:0011339	Abnormality of upper lip vermillion	8367	H4C5	OMIM:619950
HP:0011339	Abnormality of upper lip vermillion	104	ADARB1	OMIM:618862
HP:0011339	Abnormality of upper lip vermillion	23241	PACS2	OMIM:618067
HP:0011339	Abnormality of upper lip vermillion	5885	RAD21	OMIM:614701
HP:0011339	Abnormality of upper lip vermillion	775	CACNA1C	OMIM:620029
HP:0011339	Abnormality of upper lip vermillion	775	CACNA1C	OMIM:601005
HP:0011339	Abnormality of upper lip vermillion	84282	RNF135	ORPHA:137634
HP:0011339	Abnormality of upper lip vermillion	3703	STT3A	OMIM:619714
HP:0011339	Abnormality of upper lip vermillion	4774	NFIA	OMIM:613735
HP:0011339	Abnormality of upper lip vermillion	10060	ABCC9	OMIM:619719
HP:0011339	Abnormality of upper lip vermillion	23126	POGZ	ORPHA:468678
HP:0011339	Abnormality of upper lip vermillion	55209	SETD5	ORPHA:404440
HP:0011339	Abnormality of upper lip vermillion	55209	SETD5	OMIM:615761
HP:0011339	Abnormality of upper lip vermillion	1836	SLC26A2	ORPHA:56304
HP:0011339	Abnormality of upper lip vermillion	4983	OPHN1	OMIM:300486
HP:0011339	Abnormality of upper lip vermillion	4281	MID1	OMIM:300000
HP:0011339	Abnormality of upper lip vermillion	116931	MED12L	OMIM:618872
HP:0011339	Abnormality of upper lip vermillion	9578	CDC42BPB	OMIM:619841
HP:0011339	Abnormality of upper lip vermillion	613	BCR	ORPHA:261330
HP:0011339	Abnormality of upper lip vermillion	1399	CRKL	ORPHA:261330
HP:0011339	Abnormality of upper lip vermillion	10300	KATNB1	OMIM:616212
HP:0011339	Abnormality of upper lip vermillion	80816	ASXL3	OMIM:615485
HP:0011339	Abnormality of upper lip vermillion	89910	UBE3B	OMIM:244450
HP:0011339	Abnormality of upper lip vermillion	1855	DVL1	OMIM:616331
HP:0011339	Abnormality of upper lip vermillion	1855	DVL1	OMIM:180700
HP:0011339	Abnormality of upper lip vermillion	10026	PIGK	OMIM:618879
HP:0011339	Abnormality of upper lip vermillion	55690	PACS1	OMIM:615009
HP:0011339	Abnormality of upper lip vermillion	55690	PACS1	ORPHA:329224
HP:0011339	Abnormality of upper lip vermillion	55788	LMBRD1	OMIM:277380
HP:0011339	Abnormality of upper lip vermillion	28960	DCPS	OMIM:616459
HP:0011339	Abnormality of upper lip vermillion	10978	CLP1	OMIM:615803
HP:0011339	Abnormality of upper lip vermillion	9382	COG1	OMIM:611209
HP:0011339	Abnormality of upper lip vermillion	9382	COG1	ORPHA:263508
HP:0011339	Abnormality of upper lip vermillion	1185	CLCN6	OMIM:619173
HP:0011339	Abnormality of upper lip vermillion	56992	KIF15	ORPHA:261323
HP:0011339	Abnormality of upper lip vermillion	170302	ARX	OMIM:300215
HP:0011339	Abnormality of upper lip vermillion	57492	ARID1B	OMIM:135900
HP:0011339	Abnormality of upper lip vermillion	57492	ARID1B	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	3899	AFF3	OMIM:619297
HP:0011339	Abnormality of upper lip vermillion	113189	CHST14	ORPHA:2953
HP:0011339	Abnormality of upper lip vermillion	113189	CHST14	OMIM:601776
HP:0011339	Abnormality of upper lip vermillion	29940	DSE	ORPHA:2953
HP:0011339	Abnormality of upper lip vermillion	7994	KAT6A	ORPHA:457193
HP:0011339	Abnormality of upper lip vermillion	7994	KAT6A	OMIM:616268
HP:0011339	Abnormality of upper lip vermillion	1009	CDH11	OMIM:619736
HP:0011339	Abnormality of upper lip vermillion	1009	CDH11	OMIM:211380
HP:0011339	Abnormality of upper lip vermillion	23325	WASHC4	OMIM:615817
HP:0011339	Abnormality of upper lip vermillion	8546	AP3B1	OMIM:608233
HP:0011339	Abnormality of upper lip vermillion	79087	ALG12	OMIM:607143
HP:0011339	Abnormality of upper lip vermillion	79087	ALG12	ORPHA:79324
HP:0011339	Abnormality of upper lip vermillion	6872	TAF1	ORPHA:480907
HP:0011339	Abnormality of upper lip vermillion	6872	TAF1	OMIM:300966
HP:0011339	Abnormality of upper lip vermillion	10484	SEC23A	OMIM:607812
HP:0011339	Abnormality of upper lip vermillion	64919	BCL11B	OMIM:618092
HP:0011339	Abnormality of upper lip vermillion	5159	PDGFRB	OMIM:616592
HP:0011339	Abnormality of upper lip vermillion	51651	PTRH2	ORPHA:456312
HP:0011339	Abnormality of upper lip vermillion	51651	PTRH2	OMIM:616263
HP:0011339	Abnormality of upper lip vermillion	23036	ZNF292	OMIM:619188
HP:0011339	Abnormality of upper lip vermillion	54872	PIGG	ORPHA:488635
HP:0011339	Abnormality of upper lip vermillion	10352	WARS2	ORPHA:572798
HP:0011339	Abnormality of upper lip vermillion	2783	GNB2	OMIM:619503
HP:0011339	Abnormality of upper lip vermillion	26057	ANKRD17	OMIM:619504
HP:0011339	Abnormality of upper lip vermillion	55623	THUMPD1	OMIM:619989
HP:0011339	Abnormality of upper lip vermillion	25942	SIN3A	OMIM:613406
HP:0011339	Abnormality of upper lip vermillion	5373	PMM2	OMIM:212065
HP:0011339	Abnormality of upper lip vermillion	5373	PMM2	ORPHA:79318
HP:0011339	Abnormality of upper lip vermillion	1499	CTNNB1	ORPHA:404473
HP:0011339	Abnormality of upper lip vermillion	1499	CTNNB1	OMIM:615075
HP:0011339	Abnormality of upper lip vermillion	699	BUB1	OMIM:620183
HP:0011339	Abnormality of upper lip vermillion	9653	HS2ST1	OMIM:619194
HP:0011339	Abnormality of upper lip vermillion	4953	ODC1	OMIM:619075
HP:0011339	Abnormality of upper lip vermillion	253738	EBF3	OMIM:617330
HP:0011339	Abnormality of upper lip vermillion	8493	PPM1D	OMIM:617450
HP:0011339	Abnormality of upper lip vermillion	29081	METTL5	OMIM:618665
HP:0011339	Abnormality of upper lip vermillion	29081	METTL5	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	6905	TBCE	OMIM:241410
HP:0011339	Abnormality of upper lip vermillion	2200	FBN1	OMIM:614185
HP:0011339	Abnormality of upper lip vermillion	8558	CDK10	OMIM:617694
HP:0011339	Abnormality of upper lip vermillion	5063	PAK3	OMIM:300558
HP:0011339	Abnormality of upper lip vermillion	51633	OTUD6B	OMIM:617452
HP:0011339	Abnormality of upper lip vermillion	51633	OTUD6B	ORPHA:505237
HP:0011339	Abnormality of upper lip vermillion	51660	MPC1	OMIM:614741
HP:0011339	Abnormality of upper lip vermillion	8239	USP9X	ORPHA:480880
HP:0011339	Abnormality of upper lip vermillion	116115	ZNF526	OMIM:619877
HP:0011339	Abnormality of upper lip vermillion	3098	HK1	OMIM:618547
HP:0011339	Abnormality of upper lip vermillion	9091	PIGQ	OMIM:618548
HP:0011339	Abnormality of upper lip vermillion	6134	RPL10	ORPHA:459070
HP:0011339	Abnormality of upper lip vermillion	6134	RPL10	OMIM:300998
HP:0011339	Abnormality of upper lip vermillion	6134	RPL10	ORPHA:435938
HP:0011339	Abnormality of upper lip vermillion	8085	KMT2D	OMIM:620186
HP:0011339	Abnormality of upper lip vermillion	79796	ALG9	ORPHA:79328
HP:0011339	Abnormality of upper lip vermillion	283209	PGM2L1	OMIM:620191
HP:0011339	Abnormality of upper lip vermillion	57459	GATAD2B	ORPHA:363686
HP:0011339	Abnormality of upper lip vermillion	57459	GATAD2B	OMIM:615074
HP:0011339	Abnormality of upper lip vermillion	4094	MAF	ORPHA:1272
HP:0011339	Abnormality of upper lip vermillion	4094	MAF	OMIM:601088
HP:0011339	Abnormality of upper lip vermillion	8818	DPM2	OMIM:615042
HP:0011339	Abnormality of upper lip vermillion	8818	DPM2	ORPHA:329178
HP:0011339	Abnormality of upper lip vermillion	4089	SMAD4	OMIM:139210
HP:0011339	Abnormality of upper lip vermillion	53335	BCL11A	OMIM:617101
HP:0011339	Abnormality of upper lip vermillion	92002	CCNQ	ORPHA:140952
HP:0011339	Abnormality of upper lip vermillion	92002	CCNQ	OMIM:300707
HP:0011339	Abnormality of upper lip vermillion	81887	LAS1L	ORPHA:3459
HP:0011339	Abnormality of upper lip vermillion	55869	HDAC8	ORPHA:3459
HP:0011339	Abnormality of upper lip vermillion	5591	PRKDC	OMIM:615966
HP:0011339	Abnormality of upper lip vermillion	10472	ZBTB18	OMIM:612337
HP:0011339	Abnormality of upper lip vermillion	6605	SMARCE1	OMIM:616938
HP:0011339	Abnormality of upper lip vermillion	6605	SMARCE1	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	471	ATIC	OMIM:608688
HP:0011339	Abnormality of upper lip vermillion	471	ATIC	ORPHA:250977
HP:0011339	Abnormality of upper lip vermillion	2683	B4GALT1	ORPHA:79332
HP:0011339	Abnormality of upper lip vermillion	11128	POLR3A	ORPHA:3455
HP:0011339	Abnormality of upper lip vermillion	23314	SATB2	ORPHA:576283
HP:0011339	Abnormality of upper lip vermillion	8242	KDM5C	OMIM:300534
HP:0011339	Abnormality of upper lip vermillion	23162	MAPK8IP3	OMIM:618443
HP:0011339	Abnormality of upper lip vermillion	25836	NIPBL	OMIM:122470
HP:0011339	Abnormality of upper lip vermillion	51322	WAC	OMIM:616708
HP:0011339	Abnormality of upper lip vermillion	51322	WAC	ORPHA:466950
HP:0011339	Abnormality of upper lip vermillion	6513	SLC2A1	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	8831	SYNGAP1	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	1173	AP2M1	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	1173	AP2M1	OMIM:618587
HP:0011339	Abnormality of upper lip vermillion	6323	SCN1A	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	1106	CHD2	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	6529	SLC6A1	ORPHA:1942
HP:0011339	Abnormality of upper lip vermillion	9896	FIG4	OMIM:216340
HP:0011339	Abnormality of upper lip vermillion	2033	EP300	OMIM:618333
HP:0011339	Abnormality of upper lip vermillion	2033	EP300	OMIM:180849
HP:0011339	Abnormality of upper lip vermillion	8295	TRRAP	OMIM:618454
HP:0011339	Abnormality of upper lip vermillion	54903	MKS1	OMIM:249000
HP:0011339	Abnormality of upper lip vermillion	8621	CDK13	OMIM:617360
HP:0011339	Abnormality of upper lip vermillion	1523	CUX1	OMIM:618330
HP:0011339	Abnormality of upper lip vermillion	84188	FAR1	OMIM:616154
HP:0011339	Abnormality of upper lip vermillion	84188	FAR1	ORPHA:438178
HP:0011339	Abnormality of upper lip vermillion	2702	GJA5	OMIM:612474
HP:0011339	Abnormality of upper lip vermillion	2703	GJA8	OMIM:612474
HP:0011339	Abnormality of upper lip vermillion	4208	MEF2C	OMIM:613443
HP:0011339	Abnormality of upper lip vermillion	6878	TAF6	OMIM:617126
HP:0011339	Abnormality of upper lip vermillion	7227	TRPS1	OMIM:190350
HP:0011339	Abnormality of upper lip vermillion	7227	TRPS1	OMIM:190351
HP:0011339	Abnormality of upper lip vermillion	7227	TRPS1	ORPHA:502
HP:0011339	Abnormality of upper lip vermillion	6857	SYT1	OMIM:618218
HP:0011339	Abnormality of upper lip vermillion	6857	SYT1	ORPHA:522077
HP:0011339	Abnormality of upper lip vermillion	10075	HUWE1	OMIM:309590
HP:0011339	Abnormality of upper lip vermillion	9949	AMMECR1	OMIM:300990
HP:0011339	Abnormality of upper lip vermillion	22827	PUF60	ORPHA:508498
HP:0011339	Abnormality of upper lip vermillion	22827	PUF60	ORPHA:508488
HP:0011339	Abnormality of upper lip vermillion	22827	PUF60	OMIM:615583
HP:0011339	Abnormality of upper lip vermillion	23013	SPEN	OMIM:619312
HP:0011339	Abnormality of upper lip vermillion	8473	OGT	OMIM:300997
HP:0011339	Abnormality of upper lip vermillion	55628	ZNF407	OMIM:619557
HP:0011339	Abnormality of upper lip vermillion	100151683	RNU4ATAC	ORPHA:353298
HP:0011339	Abnormality of upper lip vermillion	100151683	RNU4ATAC	OMIM:616651
HP:0011339	Abnormality of upper lip vermillion	23028	KDM1A	OMIM:616728
HP:0011339	Abnormality of upper lip vermillion	23028	KDM1A	ORPHA:477993
HP:0011339	Abnormality of upper lip vermillion	7681	MKRN3	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	3653	IPW	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	54551	MAGEL2	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	54551	MAGEL2	ORPHA:177901
HP:0011339	Abnormality of upper lip vermillion	54551	MAGEL2	ORPHA:398069
HP:0011339	Abnormality of upper lip vermillion	791114	PWRN1	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	100033413	SNORD116-1	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	8924	HERC2	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	145624	PWAR1	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	23742	NPAP1	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	338433	SNORD115-1	OMIM:176270
HP:0011339	Abnormality of upper lip vermillion	128869	PIGU	OMIM:618590
HP:0011339	Abnormality of upper lip vermillion	27125	AFF4	ORPHA:444077
HP:0011339	Abnormality of upper lip vermillion	5575	PRKAR1B	OMIM:619680
HP:0011339	Abnormality of upper lip vermillion	57465	TBC1D24	OMIM:220500
HP:0011339	Abnormality of upper lip vermillion	57465	TBC1D24	ORPHA:79500
HP:0011339	Abnormality of upper lip vermillion	10847	SRCAP	OMIM:136140
HP:0011339	Abnormality of upper lip vermillion	10847	SRCAP	OMIM:619595
HP:0011339	Abnormality of upper lip vermillion	63895	PIEZO2	OMIM:617146
HP:0011339	Abnormality of upper lip vermillion	83479	DDX59	OMIM:174300
HP:0011339	Abnormality of upper lip vermillion	6492	SIM1	ORPHA:398079
HP:0011339	Abnormality of upper lip vermillion	55784	MCTP2	ORPHA:1596
HP:0011339	Abnormality of upper lip vermillion	169792	GLIS3	OMIM:610199
HP:0011339	Abnormality of upper lip vermillion	3097	HIVEP2	OMIM:616977
HP:0011339	Abnormality of upper lip vermillion	10982	MAPRE2	OMIM:616734
HP:0011339	Abnormality of upper lip vermillion	4952	OCRL	ORPHA:534
HP:0011339	Abnormality of upper lip vermillion	9126	SMC3	OMIM:610759
HP:0011339	Abnormality of upper lip vermillion	84679	SLC9A7	OMIM:301024
HP:0011339	Abnormality of upper lip vermillion	64135	IFIH1	OMIM:182250
HP:0011339	Abnormality of upper lip vermillion	1725	DHPS	OMIM:618480
HP:0011339	Abnormality of upper lip vermillion	16	AARS1	OMIM:619691
HP:0011339	Abnormality of upper lip vermillion	6638	SNRPN	ORPHA:177901
HP:0011339	Abnormality of upper lip vermillion	6638	SNRPN	ORPHA:177907
HP:0011339	Abnormality of upper lip vermillion	4692	NDN	ORPHA:177901
HP:0011339	Abnormality of upper lip vermillion	4948	OCA2	ORPHA:177901
HP:0011339	Abnormality of upper lip vermillion	10735	STAG2	OMIM:301022
HP:0011339	Abnormality of upper lip vermillion	23221	RHOBTB2	OMIM:618004
HP:0011339	Abnormality of upper lip vermillion	6601	SMARCC2	OMIM:618362
HP:0011339	Abnormality of upper lip vermillion	6601	SMARCC2	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	10265	IRX5	OMIM:611174
HP:0011339	Abnormality of upper lip vermillion	6598	SMARCB1	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	8289	ARID1A	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	5977	DPF2	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	5977	DPF2	OMIM:618027
HP:0011339	Abnormality of upper lip vermillion	6602	SMARCD1	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	196528	ARID2	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	6664	SOX11	ORPHA:1465
HP:0011339	Abnormality of upper lip vermillion	57211	ADGRG6	OMIM:616503
HP:0011339	Abnormality of upper lip vermillion	9969	MED13	OMIM:618009
HP:0011339	Abnormality of upper lip vermillion	5308	PITX2	OMIM:180500
HP:0011339	Abnormality of upper lip vermillion	3759	KCNJ2	OMIM:170390
HP:0011339	Abnormality of upper lip vermillion	3759	KCNJ2	ORPHA:37553
HP:0011339	Abnormality of upper lip vermillion	1000	CDH2	OMIM:618929
HP:0011339	Abnormality of upper lip vermillion	9241	NOG	OMIM:186500
HP:0011339	Abnormality of upper lip vermillion	7703	PCGF2	OMIM:618371
HP:0011339	Abnormality of upper lip vermillion	23522	KAT6B	OMIM:603736
HP:0011339	Abnormality of upper lip vermillion	5718	PSMD12	ORPHA:529962
HP:0011339	Abnormality of upper lip vermillion	2186	BPTF	ORPHA:529962
HP:0011339	Abnormality of upper lip vermillion	2186	BPTF	OMIM:617755
HP:0011339	Abnormality of upper lip vermillion	1822	ATN1	OMIM:618494
HP:0011339	Abnormality of upper lip vermillion	26040	SETBP1	OMIM:616078
HP:0011339	Abnormality of upper lip vermillion	5144	PDE4D	ORPHA:439822
HP:0011339	Abnormality of upper lip vermillion	83696	TRAPPC9	ORPHA:352530
HP:0011339	Abnormality of upper lip vermillion	23384	SPECC1L	OMIM:145420
HP:0011339	Abnormality of upper lip vermillion	2475	MTOR	OMIM:616638
HP:0011339	Abnormality of upper lip vermillion	79718	TBL1XR1	ORPHA:487825
HP:0011339	Abnormality of upper lip vermillion	60	ACTB	OMIM:243310
HP:0011339	Abnormality of upper lip vermillion	11212	PLPBP	OMIM:617290
HP:0011339	Abnormality of upper lip vermillion	10664	CTCF	ORPHA:363611
HP:0011339	Abnormality of upper lip vermillion	8812	CCNK	OMIM:618147
HP:0011339	Abnormality of upper lip vermillion	71	ACTG1	OMIM:614583
HP:0011339	Abnormality of upper lip vermillion	6711	SPTBN1	OMIM:619475
HP:0011339	Abnormality of upper lip vermillion	10815	CPLX1	OMIM:617976
HP:0011339	Abnormality of upper lip vermillion	1213	CLTC	OMIM:617854
HP:0011339	Abnormality of upper lip vermillion	1859	DYRK1A	OMIM:614104
HP:0011339	Abnormality of upper lip vermillion	29957	SLC25A24	OMIM:612289
HP:0011339	Abnormality of upper lip vermillion	9968	MED12	OMIM:309520
HP:0011339	Abnormality of upper lip vermillion	526	ATP6V1B2	ORPHA:79500
HP:0011339	Abnormality of upper lip vermillion	2131	EXT1	ORPHA:502
HP:0011339	Abnormality of upper lip vermillion	63932	STEEP1	OMIM:301013
HP:0011339	Abnormality of upper lip vermillion	1457	CSNK2A1	OMIM:617062
HP:0011339	Abnormality of upper lip vermillion	7204	TRIO	OMIM:617061
HP:0011339	Abnormality of upper lip vermillion	2571	GAD1	OMIM:619124
HP:0011339	Abnormality of upper lip vermillion	285590	SH3PXD2B	OMIM:249420
HP:0011339	Abnormality of upper lip vermillion	55617	TASP1	OMIM:618950
HP:0011339	Abnormality of upper lip vermillion	54870	QRICH1	OMIM:617982
HP:0011339	Abnormality of upper lip vermillion	6472	SHMT2	OMIM:619121
HP:0011339	Abnormality of upper lip vermillion	23112	TNRC6B	OMIM:619243
HP:0011339	Abnormality of upper lip vermillion	112752	IFT43	OMIM:617866
HP:0011339	Abnormality of upper lip vermillion	5500	PPP1CB	OMIM:617506
HP:0011339	Abnormality of upper lip vermillion	93587	TRMT10A	ORPHA:391408
HP:0011339	Abnormality of upper lip vermillion	84919	PPP1R15B	ORPHA:391408
HP:0011339	Abnormality of upper lip vermillion	10551	AGR2	OMIM:620233
HP:0011339	Abnormality of upper lip vermillion	55252	ASXL2	OMIM:617190
HP:0011339	Abnormality of upper lip vermillion	80267	EDEM3	OMIM:619493
HP:0011339	Abnormality of upper lip vermillion	4841	NONO	ORPHA:466791
HP:0011339	Abnormality of upper lip vermillion	10084	PQBP1	OMIM:309500
HP:0011339	Abnormality of upper lip vermillion	57020	VPS35L	OMIM:619135
HP:0011339	Abnormality of upper lip vermillion	10020	GNE	OMIM:269921
HP:0011339	Abnormality of upper lip vermillion	10020	GNE	ORPHA:3166
HP:0011339	Abnormality of upper lip vermillion	5528	PPP2R5D	ORPHA:457279
HP:0011339	Abnormality of upper lip vermillion	1984	EIF5A	OMIM:619376
HP:0011339	Abnormality of upper lip vermillion	178	AGL	OMIM:232400
HP:0011339	Abnormality of upper lip vermillion	650	BMP2	OMIM:617877
HP:0011339	Abnormality of upper lip vermillion	51780	KDM3B	OMIM:618846
HP:0011339	Abnormality of upper lip vermillion	3664	IRF6	ORPHA:1300
HP:0011339	Abnormality of upper lip vermillion	738	VPS51	OMIM:618606
HP:0011339	Abnormality of upper lip vermillion	84700	MYO18B	OMIM:616549
HP:0011339	Abnormality of upper lip vermillion	3778	KCNMA1	OMIM:618729
HP:0011339	Abnormality of upper lip vermillion	4848	CNOT2	OMIM:618608
HP:0011339	Abnormality of upper lip vermillion	10079	ATP9A	OMIM:620242
HP:0011339	Abnormality of upper lip vermillion	7474	WNT5A	OMIM:180700
HP:0011339	Abnormality of upper lip vermillion	9276	COPB2	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	11113	CIT	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	9928	KIF14	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	22995	CEP152	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	284403	WDR62	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	55262	TRAPPC14	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	163786	SASS6	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	29920	PYCR2	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	84879	MFSD2A	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	4176	MCM7	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	80254	CEP63	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	23310	NCAPD3	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	55755	CDK5RAP2	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	79648	MCPH1	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	6491	STIL	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	23141	ANKLE2	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	259266	ASPM	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	7109	TRAPPC10	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	1911	PHC1	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	6884	TAF13	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	9662	CEP135	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	55835	CENPJ	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	57082	KNL1	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	1021	CDK6	ORPHA:2512
HP:0011339	Abnormality of upper lip vermillion	11011	TLK2	OMIM:618050
HP:0011339	Abnormality of upper lip vermillion	27161	AGO2	OMIM:619149
HP:0011339	Abnormality of upper lip vermillion	101929726	MYMX	OMIM:619941
HP:0011339	Abnormality of upper lip vermillion	23404	EXOSC2	OMIM:617763
HP:0011339	Abnormality of upper lip vermillion	3832	KIF11	OMIM:152950
HP:0011339	Abnormality of upper lip vermillion	5087	PBX1	OMIM:617641
HP:0011339	Abnormality of upper lip vermillion	10844	TUBGCP2	OMIM:618737
HP:0011339	Abnormality of upper lip vermillion	9181	ARHGEF2	OMIM:617523
HP:0011339	Abnormality of upper lip vermillion	57728	WDR19	OMIM:614376
HP:0011339	Abnormality of upper lip vermillion	3480	IGF1R	OMIM:270450
HP:0011339	Abnormality of upper lip vermillion	3762	KCNJ5	ORPHA:37553
HP:0011339	Abnormality of upper lip vermillion	3192	HNRNPU	ORPHA:238769
HP:0011339	Abnormality of upper lip vermillion	6595	SMARCA2	OMIM:619293
HP:0011339	Abnormality of upper lip vermillion	5898	RALA	OMIM:619311
HP:0011339	Abnormality of upper lip vermillion	7355	SLC35A2	OMIM:300896
HP:0011339	Abnormality of upper lip vermillion	9320	TRIP12	OMIM:617752
HP:0011339	Abnormality of upper lip vermillion	145173	B3GLCT	OMIM:261540
HP:0011339	Abnormality of upper lip vermillion	145173	B3GLCT	ORPHA:709
HP:0011339	Abnormality of upper lip vermillion	6659	SOX4	OMIM:618506
HP:0011339	Abnormality of upper lip vermillion	79753	SNIP1	OMIM:614501
HP:0011339	Abnormality of upper lip vermillion	773	CACNA1A	ORPHA:2131
HP:0011339	Abnormality of upper lip vermillion	6507	SLC1A3	ORPHA:2131
HP:0011339	Abnormality of upper lip vermillion	477	ATP1A2	ORPHA:2131
HP:0011339	Abnormality of upper lip vermillion	478	ATP1A3	ORPHA:2131
HP:0011339	Abnormality of upper lip vermillion	3190	HNRNPK	ORPHA:352665
HP:0011339	Abnormality of upper lip vermillion	3190	HNRNPK	ORPHA:453504
HP:0011339	Abnormality of upper lip vermillion	11198	SUPT16H	OMIM:619480
HP:0011339	Abnormality of upper lip vermillion	9442	MED27	OMIM:619286
HP:0011339	Abnormality of upper lip vermillion	57178	ZMIZ1	OMIM:618659
HP:0011339	Abnormality of upper lip vermillion	9772	TMEM94	OMIM:618316
HP:0011339	Abnormality of upper lip vermillion	55770	EXOC2	OMIM:619306
HP:0011339	Abnormality of upper lip vermillion	3720	JARID2	OMIM:620098
HP:0011339	Abnormality of upper lip vermillion	58499	ZNF462	OMIM:618619
HP:0011339	Abnormality of upper lip vermillion	4297	KMT2A	OMIM:605130
HP:0011339	Abnormality of upper lip vermillion	128178	EDARADD	OMIM:224900
HP:0011339	Abnormality of upper lip vermillion	10913	EDAR	OMIM:224900
HP:0011339	Abnormality of upper lip vermillion	50801	KCNK4	OMIM:618381
HP:0011339	Abnormality of upper lip vermillion	57724	EPG5	OMIM:242840
HP:0011339	Abnormality of upper lip vermillion	10717	AP4B1	ORPHA:280763
HP:0011339	Abnormality of upper lip vermillion	9179	AP4M1	ORPHA:280763
HP:0011339	Abnormality of upper lip vermillion	11154	AP4S1	ORPHA:280763
HP:0011339	Abnormality of upper lip vermillion	23431	AP4E1	ORPHA:280763
HP:0011339	Abnormality of upper lip vermillion	1896	EDA	OMIM:305100
HP:0011339	Abnormality of upper lip vermillion	1896	EDA	ORPHA:181
HP:0011339	Abnormality of upper lip vermillion	80232	WDR26	ORPHA:513456
HP:0011339	Abnormality of upper lip vermillion	60401	EDA2R	ORPHA:181
HP:0011339	Abnormality of upper lip vermillion	1387	CREBBP	OMIM:618332
HP:0011339	Abnormality of upper lip vermillion	374654	KIF7	OMIM:200990
HP:0011339	Abnormality of upper lip vermillion	8294	H4C9	OMIM:619951
HP:0011339	Abnormality of upper lip vermillion	9739	SETD1A	OMIM:619056
HP:0011339	Abnormality of upper lip vermillion	8260	NAA10	OMIM:300855
HP:0011339	Abnormality of upper lip vermillion	8260	NAA10	ORPHA:276432
HP:0011339	Abnormality of upper lip vermillion	1788	DNMT3A	OMIM:615879
HP:0011339	Abnormality of upper lip vermillion	6929	TCF3	OMIM:619824
HP:0011339	Abnormality of upper lip vermillion	2629	GBA1	OMIM:608013
HP:0011339	Abnormality of upper lip vermillion	4131	MAP1B	OMIM:618918
HP:0011339	Abnormality of upper lip vermillion	6597	SMARCA4	OMIM:614609
HP:0011339	Abnormality of upper lip vermillion	9488	PIGB	OMIM:618580
HP:0011339	Abnormality of upper lip vermillion	3763	KCNJ6	ORPHA:435628
HP:0011339	Abnormality of upper lip vermillion	3763	KCNJ6	OMIM:614098
HP:0011339	Abnormality of upper lip vermillion	340533	NEXMIF	OMIM:300912
HP:0011339	Abnormality of upper lip vermillion	340533	NEXMIF	ORPHA:85277
HP:0011339	Abnormality of upper lip vermillion	10785	WDR4	OMIM:618346
HP:0011339	Abnormality of upper lip vermillion	54892	NCAPG2	OMIM:618460
HP:0011339	Abnormality of upper lip vermillion	4204	MECP2	ORPHA:1762
HP:0011339	Abnormality of upper lip vermillion	4204	MECP2	OMIM:300260
HP:0011339	Abnormality of upper lip vermillion	23556	PIGN	ORPHA:2059
HP:0011339	Abnormality of upper lip vermillion	23556	PIGN	ORPHA:280633
HP:0011339	Abnormality of upper lip vermillion	92335	STRADA	ORPHA:500533
HP:0011339	Abnormality of upper lip vermillion	55627	SMPD4	OMIM:618622
HP:0011339	Abnormality of upper lip vermillion	4897	NRCAM	OMIM:619833
HP:0011339	Abnormality of upper lip vermillion	81857	MED25	OMIM:616449
HP:0011339	Abnormality of upper lip vermillion	81857	MED25	ORPHA:464738
HP:0011339	Abnormality of upper lip vermillion	65062	TMEM237	OMIM:614424
HP:0011339	Abnormality of upper lip vermillion	89970	RSPRY1	OMIM:616723
HP:0011339	Abnormality of upper lip vermillion	89970	RSPRY1	ORPHA:457395
HP:0011339	Abnormality of upper lip vermillion	781	CACNA2D1	OMIM:620149
HP:0011339	Abnormality of upper lip vermillion	55777	MBD5	ORPHA:228402
HP:0011339	Abnormality of upper lip vermillion	1436	CSF1R	OMIM:618476
HP:0011339	Abnormality of upper lip vermillion	3020	H3-3A	OMIM:619720
HP:0011339	Abnormality of upper lip vermillion	51506	UFC1	OMIM:618076
HP:0011339	Abnormality of upper lip vermillion	23030	KDM4B	OMIM:619320
HP:0011339	Abnormality of upper lip vermillion	283489	CHAMP1	OMIM:616579
HP:0011339	Abnormality of upper lip vermillion	2314	FLII	ORPHA:819
HP:0011339	Abnormality of upper lip vermillion	23096	IQSEC2	ORPHA:819
HP:0011339	Abnormality of upper lip vermillion	10743	RAI1	ORPHA:819
HP:0011339	Abnormality of upper lip vermillion	10522	DEAF1	ORPHA:819
HP:0011339	Abnormality of upper lip vermillion	10522	DEAF1	OMIM:615828
HP:0011339	Abnormality of upper lip vermillion	5077	PAX3	ORPHA:896
HP:0011339	Abnormality of upper lip vermillion	5077	PAX3	ORPHA:894
HP:0011339	Abnormality of upper lip vermillion	55650	PIGV	OMIM:239300
HP:0011339	Abnormality of upper lip vermillion	55650	PIGV	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	2260	FGFR1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	28514	DLL1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	2253	FGF8	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	6496	SIX3	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	7050	TGIF1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	4838	NODAL	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	6469	SHH	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	51684	SUFU	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	7546	ZIC2	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	2619	GAS1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	84976	DISP1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	2736	GLI2	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	8928	FOXH1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	5727	PTCH1	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	50937	CDON	ORPHA:280200
HP:0011339	Abnormality of upper lip vermillion	84992	PIGY	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	84720	PIGO	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	84720	PIGO	OMIM:614749
HP:0011339	Abnormality of upper lip vermillion	93210	PGAP3	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	93210	PGAP3	OMIM:615716
HP:0011339	Abnormality of upper lip vermillion	284098	PIGW	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	284098	PIGW	OMIM:616025
HP:0011339	Abnormality of upper lip vermillion	27315	PGAP2	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	27315	PGAP2	OMIM:614207
HP:0011339	Abnormality of upper lip vermillion	9487	PIGL	ORPHA:247262
HP:0011339	Abnormality of upper lip vermillion	129685	TAF8	OMIM:619972
HP:0011339	Abnormality of upper lip vermillion	2590	GALNT2	OMIM:618885
HP:0011339	Abnormality of upper lip vermillion	5119	CHMP1A	OMIM:614961
HP:0011339	Abnormality of upper lip vermillion	9581	PREPL	OMIM:616224
HP:0011339	Abnormality of upper lip vermillion	23184	MESD	OMIM:618644
HP:0011339	Abnormality of upper lip vermillion	2770	GNAI1	OMIM:619854
HP:0011339	Abnormality of upper lip vermillion	91137	SLC25A46	OMIM:616505
HP:0011339	Abnormality of upper lip vermillion	93627	TBCK	OMIM:616900
HP:0011339	Abnormality of upper lip vermillion	93627	TBCK	ORPHA:488632
HP:0011339	Abnormality of upper lip vermillion	26999	CYFIP2	OMIM:618008
HP:0011339	Abnormality of upper lip vermillion	64359	NXN	ORPHA:1507
HP:0011339	Abnormality of upper lip vermillion	4920	ROR2	ORPHA:1507
HP:0011339	Abnormality of upper lip vermillion	4920	ROR2	OMIM:268310
HP:0011339	Abnormality of upper lip vermillion	546	ATRX	ORPHA:847
HP:0011339	Abnormality of upper lip vermillion	546	ATRX	OMIM:309580
HP:0011339	Abnormality of upper lip vermillion	23258	DENND5A	OMIM:617281
HP:0011339	Abnormality of upper lip vermillion	10943	MSL3	OMIM:301032
HP:0011339	Abnormality of upper lip vermillion	1760	DMPK	ORPHA:589821
HP:0011339	Abnormality of upper lip vermillion	4212	MEIS2	OMIM:600987
HP:0011339	Abnormality of upper lip vermillion	51305	KCNK9	ORPHA:166108
HP:0011339	Abnormality of upper lip vermillion	51305	KCNK9	OMIM:612292
HP:0011339	Abnormality of upper lip vermillion	92949	ADAMTSL1	ORPHA:521445
HP:0011339	Abnormality of upper lip vermillion	5813	PURA	ORPHA:438216
HP:0011339	Abnormality of upper lip vermillion	5813	PURA	OMIM:616158
HP:0011339	Abnormality of upper lip vermillion	5813	PURA	ORPHA:314655
HP:0011339	Abnormality of upper lip vermillion	79633	FAT4	OMIM:615546
HP:0011339	Abnormality of upper lip vermillion	8642	DCHS1	OMIM:601390
HP:0011339	Abnormality of upper lip vermillion	2239	GPC4	ORPHA:2662
HP:0011339	Abnormality of upper lip vermillion	129563	DIS3L2	OMIM:267000
HP:0011339	Abnormality of upper lip vermillion	5518	PPP2R1A	OMIM:616362
HP:0011339	Abnormality of upper lip vermillion	5913	RAPSN	OMIM:618388
HP:0011339	Abnormality of upper lip vermillion	2290	FOXG1	ORPHA:261144
HP:0011339	Abnormality of upper lip vermillion	10367	MICU1	OMIM:615673
HP:0011339	Abnormality of upper lip vermillion	51604	PIGT	ORPHA:369837
HP:0011339	Abnormality of upper lip vermillion	1182	CLCN3	OMIM:619517
HP:0011339	Abnormality of upper lip vermillion	998	CDC42	ORPHA:487796
HP:0011339	Abnormality of upper lip vermillion	4329	ALDH6A1	OMIM:614105
HP:0011339	Abnormality of upper lip vermillion	3211	HOXB1	OMIM:614744
HP:0011339	Abnormality of upper lip vermillion	259232	NALCN	ORPHA:371364
HP:0011339	Abnormality of upper lip vermillion	285175	UNC80	ORPHA:371364
HP:0011339	Abnormality of upper lip vermillion	8314	BAP1	OMIM:619762
HP:0011339	Abnormality of upper lip vermillion	51124	IER3IP1	OMIM:614231
HP:0011339	Abnormality of upper lip vermillion	9326	ZNHIT3	OMIM:260565
HP:0011339	Abnormality of upper lip vermillion	91875	TTC5	OMIM:619244
HP:0011339	Abnormality of upper lip vermillion	6942	TCF20	OMIM:618430
HP:0011339	Abnormality of upper lip vermillion	9373	PLAA	ORPHA:521426
HP:0011339	Abnormality of upper lip vermillion	9373	PLAA	OMIM:617527
HP:0011339	Abnormality of upper lip vermillion	388015	RTL1	ORPHA:96334
HP:0011339	Abnormality of upper lip vermillion	8788	DLK1	ORPHA:96334
HP:0011339	Abnormality of upper lip vermillion	55384	MEG3	ORPHA:96334
HP:0011339	Abnormality of upper lip vermillion	3756	KCNH1	ORPHA:420561
HP:0011339	Abnormality of upper lip vermillion	10430	TMEM147	OMIM:620075
HP:0011339	Abnormality of upper lip vermillion	2535	FZD2	OMIM:164745
HP:0011339	Abnormality of upper lip vermillion	23219	FBXO28	OMIM:619777
HP:0011339	Abnormality of upper lip vermillion	6261	RYR1	ORPHA:98905
HP:0011339	Abnormality of upper lip vermillion	84081	NSRP1	OMIM:620001
HP:0011339	Abnormality of upper lip vermillion	8813	DPM1	ORPHA:79322
HP:0011339	Abnormality of upper lip vermillion	2801	GOLGA2	OMIM:620240
HP:0011339	Abnormality of upper lip vermillion	129285	PPP1R21	OMIM:619383
HP:0011339	Abnormality of upper lip vermillion	11141	IL1RAPL1	OMIM:300143
HP:0011339	Abnormality of upper lip vermillion	1917	EEF1A2	OMIM:616393
HP:0011339	Abnormality of upper lip vermillion	4633	MYL2	OMIM:619424
HP:0011339	Abnormality of upper lip vermillion	29123	ANKRD11	OMIM:148050
HP:0011339	Abnormality of upper lip vermillion	5567	PRKACB	OMIM:619143
HP:0011339	Abnormality of upper lip vermillion	7043	TGFB3	OMIM:615582
HP:0011339	Abnormality of upper lip vermillion	221927	BRAT1	OMIM:618056
HP:0011339	Abnormality of upper lip vermillion	4654	MYOD1	OMIM:618975
HP:0011339	Abnormality of upper lip vermillion	1642	DDB1	OMIM:619426
HP:0011339	Abnormality of upper lip vermillion	9230	RAB11B	OMIM:617807
HP:0011339	Abnormality of upper lip vermillion	55906	ZC4H2	OMIM:301041
HP:0011339	Abnormality of upper lip vermillion	55906	ZC4H2	OMIM:314580
HP:0011339	Abnormality of upper lip vermillion	5594	MAPK1	OMIM:619087
HP:0011339	Abnormality of upper lip vermillion	79813	EHMT1	OMIM:610253
HP:0011339	Abnormality of upper lip vermillion	23097	CDK19	OMIM:618916
HP:0011339	Abnormality of upper lip vermillion	57688	ZSWIM6	OMIM:603671
HP:0011339	Abnormality of upper lip vermillion	7528	YY1	ORPHA:506358
HP:0011339	Abnormality of upper lip vermillion	6748	SSR4	ORPHA:370927
HP:0011338	Abnormality of mouth shape	2137	EXTL3	ORPHA:508533
HP:0011338	Abnormality of mouth shape	5573	PRKAR1A	ORPHA:950
HP:0011338	Abnormality of mouth shape	5144	PDE4D	ORPHA:950
HP:0011338	Abnormality of mouth shape	3763	KCNJ6	ORPHA:435628
HP:0011338	Abnormality of mouth shape	3763	KCNJ6	OMIM:614098
HP:0011338	Abnormality of mouth shape	23141	ANKLE2	OMIM:616681
HP:0011338	Abnormality of mouth shape	8367	H4C5	OMIM:619950
HP:0011338	Abnormality of mouth shape	340533	NEXMIF	OMIM:300912
HP:0011338	Abnormality of mouth shape	8473	OGT	OMIM:300997
HP:0011338	Abnormality of mouth shape	54517	PUS7	OMIM:618342
HP:0011338	Abnormality of mouth shape	6228	RPS23	OMIM:617412
HP:0011338	Abnormality of mouth shape	673	BRAF	OMIM:115150
HP:0011338	Abnormality of mouth shape	92335	STRADA	ORPHA:500533
HP:0011338	Abnormality of mouth shape	92335	STRADA	OMIM:611087
HP:0011338	Abnormality of mouth shape	65062	TMEM237	OMIM:614424
HP:0011338	Abnormality of mouth shape	53616	ADAM22	OMIM:617933
HP:0011338	Abnormality of mouth shape	55777	MBD5	ORPHA:228402
HP:0011338	Abnormality of mouth shape	55777	MBD5	OMIM:156200
HP:0011338	Abnormality of mouth shape	118987	PDZD8	OMIM:620021
HP:0011338	Abnormality of mouth shape	2629	GBA1	OMIM:608013
HP:0011338	Abnormality of mouth shape	23126	POGZ	ORPHA:468678
HP:0011338	Abnormality of mouth shape	3190	HNRNPK	ORPHA:453504
HP:0011338	Abnormality of mouth shape	3190	HNRNPK	OMIM:616580
HP:0011338	Abnormality of mouth shape	3190	HNRNPK	ORPHA:352665
HP:0011338	Abnormality of mouth shape	10479	SLC9A6	OMIM:300243
HP:0011338	Abnormality of mouth shape	57465	TBC1D24	OMIM:220500
HP:0011338	Abnormality of mouth shape	57465	TBC1D24	ORPHA:79500
HP:0011338	Abnormality of mouth shape	6535	SLC6A8	ORPHA:52503
HP:0011338	Abnormality of mouth shape	116931	MED12L	OMIM:618872
HP:0011338	Abnormality of mouth shape	374654	KIF7	OMIM:200990
HP:0011338	Abnormality of mouth shape	3020	H3-3A	OMIM:619720
HP:0011338	Abnormality of mouth shape	388015	RTL1	ORPHA:254528
HP:0011338	Abnormality of mouth shape	8788	DLK1	ORPHA:254528
HP:0011338	Abnormality of mouth shape	55384	MEG3	ORPHA:254528
HP:0011338	Abnormality of mouth shape	283489	CHAMP1	OMIM:616579
HP:0011338	Abnormality of mouth shape	129563	DIS3L2	ORPHA:2849
HP:0011338	Abnormality of mouth shape	129563	DIS3L2	OMIM:267000
HP:0011338	Abnormality of mouth shape	2314	FLII	ORPHA:819
HP:0011338	Abnormality of mouth shape	23096	IQSEC2	ORPHA:819
HP:0011338	Abnormality of mouth shape	10743	RAI1	ORPHA:819
HP:0011338	Abnormality of mouth shape	10522	DEAF1	ORPHA:819
HP:0011338	Abnormality of mouth shape	4952	OCRL	ORPHA:534
HP:0011338	Abnormality of mouth shape	3908	LAMA2	ORPHA:258
HP:0011338	Abnormality of mouth shape	6197	RPS6KA3	OMIM:303600
HP:0011338	Abnormality of mouth shape	6197	RPS6KA3	ORPHA:192
HP:0011338	Abnormality of mouth shape	5980	REV3L	ORPHA:570
HP:0011338	Abnormality of mouth shape	23129	PLXND1	ORPHA:570
HP:0011338	Abnormality of mouth shape	84340	GFM2	ORPHA:565624
HP:0011338	Abnormality of mouth shape	317662	FAM149B1	OMIM:618763
HP:0011338	Abnormality of mouth shape	284058	KANSL1	ORPHA:363958
HP:0011338	Abnormality of mouth shape	284058	KANSL1	ORPHA:363965
HP:0011338	Abnormality of mouth shape	284058	KANSL1	OMIM:610443
HP:0011338	Abnormality of mouth shape	55870	ASH1L	OMIM:617796
HP:0011338	Abnormality of mouth shape	9968	MED12	ORPHA:93932
HP:0011338	Abnormality of mouth shape	9968	MED12	OMIM:309520
HP:0011338	Abnormality of mouth shape	9326	ZNHIT3	ORPHA:2836
HP:0011338	Abnormality of mouth shape	9326	ZNHIT3	OMIM:260565
HP:0011338	Abnormality of mouth shape	547	KIF1A	ORPHA:2836
HP:0011338	Abnormality of mouth shape	23389	MED13L	ORPHA:369891
HP:0011338	Abnormality of mouth shape	23389	MED13L	OMIM:616789
HP:0011338	Abnormality of mouth shape	157680	VPS13B	OMIM:216550
HP:0011338	Abnormality of mouth shape	157680	VPS13B	ORPHA:193
HP:0011338	Abnormality of mouth shape	54806	AHI1	OMIM:608629
HP:0011338	Abnormality of mouth shape	23258	DENND5A	OMIM:617281
HP:0011338	Abnormality of mouth shape	4784	NFIX	ORPHA:561
HP:0011338	Abnormality of mouth shape	9839	ZEB2	ORPHA:261552
HP:0011338	Abnormality of mouth shape	9839	ZEB2	ORPHA:261537
HP:0011338	Abnormality of mouth shape	5442	POLRMT	OMIM:619743
HP:0011338	Abnormality of mouth shape	5528	PPP2R5D	OMIM:616355
HP:0011338	Abnormality of mouth shape	79576	NKAP	OMIM:301039
HP:0011338	Abnormality of mouth shape	1822	ATN1	OMIM:618494
HP:0011338	Abnormality of mouth shape	26040	SETBP1	OMIM:616078
HP:0011338	Abnormality of mouth shape	51305	KCNK9	ORPHA:166108
HP:0011338	Abnormality of mouth shape	2475	MTOR	ORPHA:457485
HP:0011338	Abnormality of mouth shape	2475	MTOR	OMIM:616638
HP:0011338	Abnormality of mouth shape	54551	MAGEL2	OMIM:615547
HP:0011338	Abnormality of mouth shape	25942	SIN3A	OMIM:613406
HP:0011338	Abnormality of mouth shape	4247	MGAT2	OMIM:212066
HP:0011338	Abnormality of mouth shape	4247	MGAT2	ORPHA:79329
HP:0011338	Abnormality of mouth shape	5518	PPP2R1A	OMIM:616362
HP:0011338	Abnormality of mouth shape	5518	PPP2R1A	ORPHA:457284
HP:0011338	Abnormality of mouth shape	55768	NGLY1	OMIM:615273
HP:0011338	Abnormality of mouth shape	5281	PIGF	OMIM:619356
HP:0011338	Abnormality of mouth shape	2892	GRIA3	ORPHA:364028
HP:0011338	Abnormality of mouth shape	51604	PIGT	OMIM:615398
HP:0011338	Abnormality of mouth shape	57680	CHD8	OMIM:615032
HP:0011338	Abnormality of mouth shape	5063	PAK3	OMIM:300558
HP:0011338	Abnormality of mouth shape	1213	CLTC	OMIM:617854
HP:0011338	Abnormality of mouth shape	6660	SOX5	OMIM:616803
HP:0011338	Abnormality of mouth shape	10382	TUBB4A	ORPHA:98805
HP:0011338	Abnormality of mouth shape	285175	UNC80	OMIM:616801
HP:0011338	Abnormality of mouth shape	3211	HOXB1	OMIM:614744
HP:0011338	Abnormality of mouth shape	526	ATP6V1B2	ORPHA:79500
HP:0011338	Abnormality of mouth shape	8905	AP1S2	ORPHA:85329
HP:0011338	Abnormality of mouth shape	4893	NRAS	OMIM:137550
HP:0011338	Abnormality of mouth shape	3265	HRAS	OMIM:137550
HP:0011338	Abnormality of mouth shape	54828	BCAS3	OMIM:619641
HP:0011338	Abnormality of mouth shape	4841	NONO	OMIM:300967
HP:0011338	Abnormality of mouth shape	4841	NONO	ORPHA:466791
HP:0011338	Abnormality of mouth shape	27086	FOXP1	ORPHA:391372
HP:0011338	Abnormality of mouth shape	27086	FOXP1	OMIM:613670
HP:0011338	Abnormality of mouth shape	6942	TCF20	OMIM:618430
HP:0011338	Abnormality of mouth shape	57688	ZSWIM6	OMIM:617865
HP:0011338	Abnormality of mouth shape	1806	DPYD	ORPHA:1675
HP:0011338	Abnormality of mouth shape	207	AKT1	OMIM:176920
HP:0011338	Abnormality of mouth shape	55704	CCDC88A	OMIM:617507
HP:0011338	Abnormality of mouth shape	200424	TET3	OMIM:618798
HP:0011338	Abnormality of mouth shape	25973	PARS2	OMIM:618437
HP:0011338	Abnormality of mouth shape	9993	DGCR2	OMIM:192430
HP:0011338	Abnormality of mouth shape	8220	ESS2	OMIM:192430
HP:0011338	Abnormality of mouth shape	8214	DGCR6	OMIM:192430
HP:0011338	Abnormality of mouth shape	54487	DGCR8	OMIM:192430
HP:0011338	Abnormality of mouth shape	6899	TBX1	OMIM:192430
HP:0011338	Abnormality of mouth shape	8911	CACNA1I	OMIM:620114
HP:0011338	Abnormality of mouth shape	51244	CCDC174	OMIM:616816
HP:0011338	Abnormality of mouth shape	6925	TCF4	OMIM:610954
HP:0011338	Abnormality of mouth shape	51085	MLXIPL	OMIM:194050
HP:0011338	Abnormality of mouth shape	2006	ELN	OMIM:194050
HP:0011338	Abnormality of mouth shape	3756	KCNH1	ORPHA:420561
HP:0011338	Abnormality of mouth shape	4208	MEF2C	ORPHA:228384
HP:0011338	Abnormality of mouth shape	23556	PIGN	OMIM:614080
HP:0011338	Abnormality of mouth shape	7030	TFE3	OMIM:301066
HP:0011338	Abnormality of mouth shape	7355	SLC35A2	OMIM:300896
HP:0011338	Abnormality of mouth shape	5879	RAC1	OMIM:617751
HP:0011338	Abnormality of mouth shape	5879	RAC1	ORPHA:500159
HP:0011338	Abnormality of mouth shape	29954	POMT2	OMIM:613156
HP:0011338	Abnormality of mouth shape	546	ATRX	OMIM:309580
HP:0011338	Abnormality of mouth shape	9487	PIGL	OMIM:280000
HP:0011338	Abnormality of mouth shape	11141	IL1RAPL1	OMIM:300143
HP:0011338	Abnormality of mouth shape	1968	EIF2S3	OMIM:300148
HP:0011338	Abnormality of mouth shape	27161	AGO2	OMIM:619149
HP:0011338	Abnormality of mouth shape	9427	ECEL1	OMIM:615065
HP:0011338	Abnormality of mouth shape	667	DST	OMIM:614653
HP:0011338	Abnormality of mouth shape	5813	PURA	OMIM:616158
HP:0011338	Abnormality of mouth shape	22907	DHX30	OMIM:617804
HP:0011338	Abnormality of mouth shape	1460	CSNK2B	OMIM:618732
HP:0011338	Abnormality of mouth shape	6664	SOX11	OMIM:615866
HP:0011338	Abnormality of mouth shape	80816	ASXL3	ORPHA:352577
HP:0011338	Abnormality of mouth shape	4621	MYH3	OMIM:193700
HP:0011338	Abnormality of mouth shape	3339	HSPG2	OMIM:255800
HP:0011338	Abnormality of mouth shape	3339	HSPG2	ORPHA:800
HP:0011338	Abnormality of mouth shape	3977	LIFR	OMIM:601559
HP:0011338	Abnormality of mouth shape	259232	NALCN	OMIM:616266
HP:0011338	Abnormality of mouth shape	29895	MYL11	OMIM:619110
HP:0011338	Abnormality of mouth shape	4920	ROR2	OMIM:268310
HP:0011338	Abnormality of mouth shape	1146	CHRNG	OMIM:265000
HP:0011338	Abnormality of mouth shape	2068	ERCC2	OMIM:601675
HP:0011338	Abnormality of mouth shape	8314	BAP1	OMIM:619762
HP:0011338	Abnormality of mouth shape	1857	DVL3	OMIM:616894
HP:0011338	Abnormality of mouth shape	54892	NCAPG2	OMIM:618460
HP:0011338	Abnormality of mouth shape	5277	PIGA	OMIM:300868
HP:0011338	Abnormality of mouth shape	1855	DVL1	OMIM:616331
HP:0011338	Abnormality of mouth shape	1855	DVL1	OMIM:180700
HP:0011338	Abnormality of mouth shape	7021	TFAP2B	ORPHA:46627
HP:0011338	Abnormality of mouth shape	7021	TFAP2B	OMIM:169100
HP:0011338	Abnormality of mouth shape	64359	NXN	OMIM:618529
HP:0011338	Abnormality of mouth shape	5500	PPP1CB	OMIM:617506
HP:0011338	Abnormality of mouth shape	8292	COLQ	ORPHA:98915
HP:0011338	Abnormality of mouth shape	3913	LAMB2	ORPHA:98915
HP:0011338	Abnormality of mouth shape	54676	GTPBP2	OMIM:617988
HP:0011338	Abnormality of mouth shape	7474	WNT5A	OMIM:180700
HP:0011338	Abnormality of mouth shape	701	BUB1B	OMIM:257300
HP:0011338	Abnormality of mouth shape	8243	SMC1A	OMIM:300590
HP:0011338	Abnormality of mouth shape	8243	SMC1A	OMIM:301044
HP:0011338	Abnormality of mouth shape	8243	SMC1A	ORPHA:199
HP:0011338	Abnormality of mouth shape	6309	SC5D	ORPHA:46059
HP:0011338	Abnormality of mouth shape	23241	PACS2	OMIM:618067
HP:0011338	Abnormality of mouth shape	775	CACNA1C	OMIM:620029
HP:0011338	Abnormality of mouth shape	55209	SETD5	ORPHA:404440
HP:0011338	Abnormality of mouth shape	55209	SETD5	OMIM:615761
HP:0011338	Abnormality of mouth shape	197131	UBR1	OMIM:243800
HP:0011338	Abnormality of mouth shape	55690	PACS1	OMIM:615009
HP:0011338	Abnormality of mouth shape	55690	PACS1	ORPHA:329224
HP:0011338	Abnormality of mouth shape	55650	PIGV	OMIM:239300
HP:0011338	Abnormality of mouth shape	55650	PIGV	ORPHA:247262
HP:0011338	Abnormality of mouth shape	56992	KIF15	ORPHA:261323
HP:0011338	Abnormality of mouth shape	83696	TRAPPC9	OMIM:613192
HP:0011338	Abnormality of mouth shape	83696	TRAPPC9	ORPHA:352530
HP:0011338	Abnormality of mouth shape	84992	PIGY	ORPHA:247262
HP:0011338	Abnormality of mouth shape	84720	PIGO	ORPHA:247262
HP:0011338	Abnormality of mouth shape	93210	PGAP3	ORPHA:247262
HP:0011338	Abnormality of mouth shape	284098	PIGW	ORPHA:247262
HP:0011338	Abnormality of mouth shape	27315	PGAP2	ORPHA:247262
HP:0011338	Abnormality of mouth shape	3899	AFF3	OMIM:619297
HP:0011338	Abnormality of mouth shape	1020	CDK5	OMIM:616342
HP:0011338	Abnormality of mouth shape	80204	FBXO11	OMIM:618089
HP:0011338	Abnormality of mouth shape	7994	KAT6A	ORPHA:457193
HP:0011338	Abnormality of mouth shape	7994	KAT6A	OMIM:616268
HP:0011338	Abnormality of mouth shape	57531	HACE1	ORPHA:464282
HP:0011338	Abnormality of mouth shape	10815	CPLX1	ORPHA:280
HP:0011338	Abnormality of mouth shape	10815	CPLX1	OMIM:194190
HP:0011338	Abnormality of mouth shape	54872	PIGG	ORPHA:280
HP:0011338	Abnormality of mouth shape	7469	NELFA	ORPHA:280
HP:0011338	Abnormality of mouth shape	1487	CTBP1	ORPHA:280
HP:0011338	Abnormality of mouth shape	1487	CTBP1	OMIM:194190
HP:0011338	Abnormality of mouth shape	3954	LETM1	ORPHA:280
HP:0011338	Abnormality of mouth shape	3954	LETM1	OMIM:194190
HP:0011338	Abnormality of mouth shape	7468	NSD2	ORPHA:280
HP:0011338	Abnormality of mouth shape	7468	NSD2	OMIM:194190
HP:0011338	Abnormality of mouth shape	22884	WDR37	OMIM:618652
HP:0011338	Abnormality of mouth shape	1009	CDH11	ORPHA:1299
HP:0011338	Abnormality of mouth shape	2783	GNB2	OMIM:619503
HP:0011338	Abnormality of mouth shape	6602	SMARCD1	OMIM:618779
HP:0011338	Abnormality of mouth shape	8642	DCHS1	OMIM:601390
HP:0011338	Abnormality of mouth shape	53834	FGFRL1	OMIM:194190
HP:0011338	Abnormality of mouth shape	4853	NOTCH2	ORPHA:955
HP:0011338	Abnormality of mouth shape	253738	EBF3	OMIM:617330
HP:0011338	Abnormality of mouth shape	7862	BRPF1	OMIM:617333
HP:0011338	Abnormality of mouth shape	2535	FZD2	ORPHA:3107
HP:0011338	Abnormality of mouth shape	8363	H4C11	OMIM:619759
HP:0011338	Abnormality of mouth shape	27125	AFF4	OMIM:616368
HP:0011338	Abnormality of mouth shape	27125	AFF4	ORPHA:444077
HP:0011338	Abnormality of mouth shape	64327	LMBR1	ORPHA:2378
HP:0011338	Abnormality of mouth shape	773	CACNA1A	ORPHA:2131
HP:0011338	Abnormality of mouth shape	6507	SLC1A3	ORPHA:2131
HP:0011338	Abnormality of mouth shape	477	ATP1A2	ORPHA:2131
HP:0011338	Abnormality of mouth shape	478	ATP1A3	ORPHA:2131
HP:0011338	Abnormality of mouth shape	9091	PIGQ	OMIM:618548
HP:0011338	Abnormality of mouth shape	11128	POLR3A	OMIM:264090
HP:0011338	Abnormality of mouth shape	11128	POLR3A	ORPHA:3455
HP:0011338	Abnormality of mouth shape	8085	KMT2D	OMIM:620186
HP:0011338	Abnormality of mouth shape	23137	SMC5	OMIM:620185
HP:0011338	Abnormality of mouth shape	51611	DPH5	OMIM:620070
HP:0011338	Abnormality of mouth shape	78989	COLEC11	OMIM:265050
HP:0011338	Abnormality of mouth shape	78989	COLEC11	ORPHA:293843
HP:0011338	Abnormality of mouth shape	26137	ZBTB20	OMIM:259050
HP:0011338	Abnormality of mouth shape	7750	ZMYM2	OMIM:619522
HP:0011338	Abnormality of mouth shape	4849	CNOT3	OMIM:618672
HP:0011338	Abnormality of mouth shape	23261	CAMTA1	OMIM:614756
HP:0011338	Abnormality of mouth shape	84919	PPP1R15B	OMIM:616817
HP:0011338	Abnormality of mouth shape	84919	PPP1R15B	ORPHA:391408
HP:0011338	Abnormality of mouth shape	6638	SNRPN	ORPHA:98754
HP:0011338	Abnormality of mouth shape	6638	SNRPN	ORPHA:177904
HP:0011338	Abnormality of mouth shape	6638	SNRPN	ORPHA:177901
HP:0011338	Abnormality of mouth shape	6638	SNRPN	ORPHA:177907
HP:0011338	Abnormality of mouth shape	4692	NDN	ORPHA:98754
HP:0011338	Abnormality of mouth shape	4692	NDN	ORPHA:177904
HP:0011338	Abnormality of mouth shape	4692	NDN	ORPHA:177901
HP:0011338	Abnormality of mouth shape	4948	OCA2	ORPHA:98754
HP:0011338	Abnormality of mouth shape	4948	OCA2	ORPHA:177904
HP:0011338	Abnormality of mouth shape	4948	OCA2	ORPHA:177901
HP:0011338	Abnormality of mouth shape	5295	PIK3R1	OMIM:269880
HP:0011338	Abnormality of mouth shape	57479	PRR12	OMIM:619539
HP:0011338	Abnormality of mouth shape	25836	NIPBL	OMIM:122470
HP:0011338	Abnormality of mouth shape	25836	NIPBL	ORPHA:199
HP:0011338	Abnormality of mouth shape	79718	TBL1XR1	OMIM:616944
HP:0011338	Abnormality of mouth shape	51322	WAC	OMIM:616708
HP:0011338	Abnormality of mouth shape	117581	TWIST2	ORPHA:1807
HP:0011338	Abnormality of mouth shape	1917	EEF1A2	OMIM:616393
HP:0011338	Abnormality of mouth shape	8621	CDK13	OMIM:617360
HP:0011338	Abnormality of mouth shape	26173	INTS1	OMIM:618571
HP:0011338	Abnormality of mouth shape	7319	UBE2A	ORPHA:163956
HP:0011338	Abnormality of mouth shape	7319	UBE2A	OMIM:300860
HP:0011338	Abnormality of mouth shape	55906	ZC4H2	OMIM:301041
HP:0011338	Abnormality of mouth shape	29926	GMPPA	OMIM:615510
HP:0011338	Abnormality of mouth shape	9759	HDAC4	ORPHA:1001
HP:0011338	Abnormality of mouth shape	10785	WDR4	OMIM:618347
HP:0011338	Abnormality of mouth shape	55628	ZNF407	OMIM:619557
HP:0011338	Abnormality of mouth shape	100151683	RNU4ATAC	ORPHA:353298
HP:0011338	Abnormality of mouth shape	100151683	RNU4ATAC	OMIM:616651
HP:0011338	Abnormality of mouth shape	79813	EHMT1	ORPHA:96147
HP:0011338	Abnormality of mouth shape	23028	KDM1A	OMIM:616728
HP:0011338	Abnormality of mouth shape	7681	MKRN3	OMIM:176270
HP:0011338	Abnormality of mouth shape	3653	IPW	OMIM:176270
HP:0011338	Abnormality of mouth shape	791114	PWRN1	OMIM:176270
HP:0011338	Abnormality of mouth shape	100033413	SNORD116-1	OMIM:176270
HP:0011338	Abnormality of mouth shape	8924	HERC2	OMIM:176270
HP:0011338	Abnormality of mouth shape	145624	PWAR1	OMIM:176270
HP:0011338	Abnormality of mouth shape	23742	NPAP1	OMIM:176270
HP:0011338	Abnormality of mouth shape	338433	SNORD115-1	OMIM:176270
HP:0011338	Abnormality of mouth shape	128869	PIGU	OMIM:618590
HP:0011338	Abnormality of mouth shape	5575	PRKAR1B	OMIM:619680
HP:0011338	Abnormality of mouth shape	55869	HDAC8	OMIM:300882
HP:0011338	Abnormality of mouth shape	55869	HDAC8	ORPHA:199
HP:0011338	Abnormality of mouth shape	10847	SRCAP	OMIM:136140
HP:0011338	Abnormality of mouth shape	6651	SON	OMIM:617140
HP:0011338	Abnormality of mouth shape	6651	SON	ORPHA:500150
HP:0011338	Abnormality of mouth shape	23030	KDM4B	OMIM:619320
HP:0011338	Abnormality of mouth shape	8882	ZPR1	OMIM:619321
HP:0011338	Abnormality of mouth shape	6492	SIM1	ORPHA:398079
HP:0011338	Abnormality of mouth shape	998	CDC42	OMIM:616737
HP:0011338	Abnormality of mouth shape	998	CDC42	ORPHA:487796
HP:0011338	Abnormality of mouth shape	3767	KCNJ11	ORPHA:79134
HP:0011338	Abnormality of mouth shape	3767	KCNJ11	ORPHA:99885
HP:0011338	Abnormality of mouth shape	3767	KCNJ11	OMIM:618856
HP:0011338	Abnormality of mouth shape	79731	NARS2	ORPHA:79134
HP:0011338	Abnormality of mouth shape	6833	ABCC8	ORPHA:79134
HP:0011338	Abnormality of mouth shape	6833	ABCC8	ORPHA:99885
HP:0011338	Abnormality of mouth shape	6774	STAT3	ORPHA:99885
HP:0011338	Abnormality of mouth shape	2645	GCK	ORPHA:99885
HP:0011338	Abnormality of mouth shape	3651	PDX1	ORPHA:99885
HP:0011338	Abnormality of mouth shape	3630	INS	ORPHA:99885
HP:0011338	Abnormality of mouth shape	2710	GK	OMIM:307030
HP:0011338	Abnormality of mouth shape	9126	SMC3	OMIM:610759
HP:0011338	Abnormality of mouth shape	9126	SMC3	ORPHA:199
HP:0011338	Abnormality of mouth shape	90161	HS6ST2	OMIM:301025
HP:0011338	Abnormality of mouth shape	2239	GPC4	OMIM:301026
HP:0011338	Abnormality of mouth shape	51132	RLIM	OMIM:300978
HP:0011338	Abnormality of mouth shape	3481	IGF2	OMIM:180860
HP:0011338	Abnormality of mouth shape	7703	PCGF2	OMIM:618371
HP:0011338	Abnormality of mouth shape	5422	POLA1	OMIM:301030
HP:0011338	Abnormality of mouth shape	10943	MSL3	OMIM:301032
HP:0011338	Abnormality of mouth shape	8091	HMGA2	ORPHA:94063
HP:0011338	Abnormality of mouth shape	23592	LEMD3	ORPHA:94063
HP:0011338	Abnormality of mouth shape	8985	PLOD3	OMIM:612394
HP:0011338	Abnormality of mouth shape	25	ABL1	OMIM:617602
HP:0011338	Abnormality of mouth shape	79633	FAT4	OMIM:615546
HP:0011338	Abnormality of mouth shape	23476	BRD4	ORPHA:199
HP:0011338	Abnormality of mouth shape	5885	RAD21	ORPHA:199
HP:0011338	Abnormality of mouth shape	9851	KIAA0753	OMIM:619476
HP:0011338	Abnormality of mouth shape	57003	CCDC47	OMIM:618268
HP:0011338	Abnormality of mouth shape	134218	DNAJC21	OMIM:617052
HP:0011338	Abnormality of mouth shape	5977	DPF2	OMIM:618027
HP:0011338	Abnormality of mouth shape	22931	RAB18	OMIM:614222
HP:0011338	Abnormality of mouth shape	9894	TELO2	ORPHA:488642
HP:0011338	Abnormality of mouth shape	79005	SCNM1	OMIM:620107
HP:0011338	Abnormality of mouth shape	246329	STAC3	ORPHA:168572
HP:0011338	Abnormality of mouth shape	246329	STAC3	OMIM:255995
HP:0011338	Abnormality of mouth shape	9935	MAFB	ORPHA:2774
HP:0011338	Abnormality of mouth shape	2132	EXT2	ORPHA:52022
HP:0011338	Abnormality of mouth shape	60529	ALX4	ORPHA:52022
HP:0011338	Abnormality of mouth shape	51317	PHF21A	ORPHA:52022
HP:0011338	Abnormality of mouth shape	2887	GRB10	ORPHA:96182
HP:0011338	Abnormality of mouth shape	55617	TASP1	OMIM:618950
HP:0011338	Abnormality of mouth shape	6472	SHMT2	OMIM:619121
HP:0011338	Abnormality of mouth shape	93587	TRMT10A	ORPHA:391408
HP:0011338	Abnormality of mouth shape	84628	NTNG2	OMIM:618718
HP:0011338	Abnormality of mouth shape	9320	TRIP12	OMIM:617752
HP:0011338	Abnormality of mouth shape	10584	COLEC10	ORPHA:293843
HP:0011338	Abnormality of mouth shape	5648	MASP1	ORPHA:293843
HP:0011338	Abnormality of mouth shape	3778	KCNMA1	OMIM:618729
HP:0011338	Abnormality of mouth shape	57647	DHX37	OMIM:618731
HP:0011338	Abnormality of mouth shape	101929726	MYMX	OMIM:619941
HP:0011338	Abnormality of mouth shape	4858	NOVA2	OMIM:618859
HP:0011338	Abnormality of mouth shape	84148	KAT8	OMIM:618974
HP:0011338	Abnormality of mouth shape	27445	PCLO	OMIM:608027
HP:0011338	Abnormality of mouth shape	10682	EBP	ORPHA:401973
HP:0011338	Abnormality of mouth shape	9241	NOG	OMIM:186500
HP:0011338	Abnormality of mouth shape	10992	SF3B2	OMIM:164210
HP:0011338	Abnormality of mouth shape	56623	INPP5E	OMIM:213300
HP:0011337	Abnormality of mouth size	8450	CUL4B	OMIM:300354
HP:0011337	Abnormality of mouth size	8450	CUL4B	ORPHA:85293
HP:0011337	Abnormality of mouth size	158	ADSL	OMIM:103050
HP:0011337	Abnormality of mouth size	10262	SF3B4	OMIM:154400
HP:0011337	Abnormality of mouth size	10262	SF3B4	ORPHA:245
HP:0011337	Abnormality of mouth size	8367	H4C5	OMIM:619950
HP:0011337	Abnormality of mouth size	23241	PACS2	OMIM:618067
HP:0011337	Abnormality of mouth size	23135	KDM6B	OMIM:618505
HP:0011337	Abnormality of mouth size	6659	SOX4	OMIM:618506
HP:0011337	Abnormality of mouth size	6659	SOX4	ORPHA:1465
HP:0011337	Abnormality of mouth size	23556	PIGN	ORPHA:2059
HP:0011337	Abnormality of mouth size	23556	PIGN	ORPHA:280633
HP:0011337	Abnormality of mouth size	5894	RAF1	OMIM:611553
HP:0011337	Abnormality of mouth size	145173	B3GLCT	ORPHA:709
HP:0011337	Abnormality of mouth size	10274	STAG1	ORPHA:502434
HP:0011337	Abnormality of mouth size	10274	STAG1	OMIM:617635
HP:0011337	Abnormality of mouth size	84942	WDR73	OMIM:251300
HP:0011337	Abnormality of mouth size	10992	SF3B2	OMIM:164210
HP:0011337	Abnormality of mouth size	54968	TMEM70	ORPHA:1194
HP:0011337	Abnormality of mouth size	374654	KIF7	OMIM:200990
HP:0011337	Abnormality of mouth size	9578	CDC42BPB	OMIM:619841
HP:0011337	Abnormality of mouth size	3020	H3-3A	OMIM:619720
HP:0011337	Abnormality of mouth size	10300	KATNB1	OMIM:616212
HP:0011337	Abnormality of mouth size	80816	ASXL3	OMIM:615485
HP:0011337	Abnormality of mouth size	1855	DVL1	OMIM:616331
HP:0011337	Abnormality of mouth size	55690	PACS1	OMIM:615009
HP:0011337	Abnormality of mouth size	55690	PACS1	ORPHA:329224
HP:0011337	Abnormality of mouth size	80055	PGAP1	OMIM:615802
HP:0011337	Abnormality of mouth size	10847	SRCAP	ORPHA:2044
HP:0011337	Abnormality of mouth size	10847	SRCAP	OMIM:136140
HP:0011337	Abnormality of mouth size	10847	SRCAP	OMIM:619595
HP:0011337	Abnormality of mouth size	1717	DHCR7	ORPHA:818
HP:0011337	Abnormality of mouth size	23431	AP4E1	OMIM:613744
HP:0011337	Abnormality of mouth size	23431	AP4E1	ORPHA:280763
HP:0011337	Abnormality of mouth size	3764	KCNJ8	ORPHA:1517
HP:0011337	Abnormality of mouth size	10060	ABCC9	ORPHA:1517
HP:0011337	Abnormality of mouth size	10225	CD96	OMIM:211750
HP:0011337	Abnormality of mouth size	79158	GNPTAB	OMIM:252500
HP:0011337	Abnormality of mouth size	6595	SMARCA2	OMIM:619293
HP:0011337	Abnormality of mouth size	6595	SMARCA2	OMIM:601358
HP:0011337	Abnormality of mouth size	6595	SMARCA2	ORPHA:3051
HP:0011337	Abnormality of mouth size	57492	ARID1B	OMIM:135900
HP:0011337	Abnormality of mouth size	57492	ARID1B	ORPHA:1465
HP:0011337	Abnormality of mouth size	3899	AFF3	OMIM:619297
HP:0011337	Abnormality of mouth size	9739	SETD1A	OMIM:619056
HP:0011337	Abnormality of mouth size	815	CAMK2A	OMIM:617798
HP:0011337	Abnormality of mouth size	9968	MED12	ORPHA:93932
HP:0011337	Abnormality of mouth size	9968	MED12	OMIM:305450
HP:0011337	Abnormality of mouth size	64359	NXN	ORPHA:1507
HP:0011337	Abnormality of mouth size	4920	ROR2	ORPHA:1507
HP:0011337	Abnormality of mouth size	4920	ROR2	OMIM:268310
HP:0011337	Abnormality of mouth size	8289	ARID1A	OMIM:614607
HP:0011337	Abnormality of mouth size	8289	ARID1A	ORPHA:1465
HP:0011337	Abnormality of mouth size	6598	SMARCB1	OMIM:614608
HP:0011337	Abnormality of mouth size	6598	SMARCB1	ORPHA:1465
HP:0011337	Abnormality of mouth size	6597	SMARCA4	OMIM:614609
HP:0011337	Abnormality of mouth size	6597	SMARCA4	ORPHA:1465
HP:0011337	Abnormality of mouth size	10484	SEC23A	OMIM:607812
HP:0011337	Abnormality of mouth size	10484	SEC23A	ORPHA:50814
HP:0011337	Abnormality of mouth size	6885	MAP3K7	OMIM:157800
HP:0011337	Abnormality of mouth size	56992	KIF15	OMIM:619981
HP:0011337	Abnormality of mouth size	2720	GLB1	OMIM:253010
HP:0011337	Abnormality of mouth size	57178	ZMIZ1	OMIM:618659
HP:0011337	Abnormality of mouth size	2783	GNB2	OMIM:619503
HP:0011337	Abnormality of mouth size	200734	SPRED2	OMIM:619745
HP:0011337	Abnormality of mouth size	89910	UBE3B	ORPHA:2707
HP:0011337	Abnormality of mouth size	6602	SMARCD1	OMIM:618779
HP:0011337	Abnormality of mouth size	6602	SMARCD1	ORPHA:1465
HP:0011337	Abnormality of mouth size	55623	THUMPD1	OMIM:619989
HP:0011337	Abnormality of mouth size	526	ATP6V1B2	ORPHA:3473
HP:0011337	Abnormality of mouth size	3756	KCNH1	ORPHA:3473
HP:0011337	Abnormality of mouth size	3756	KCNH1	OMIM:611816
HP:0011337	Abnormality of mouth size	3756	KCNH1	OMIM:135500
HP:0011337	Abnormality of mouth size	3756	KCNH1	ORPHA:420561
HP:0011337	Abnormality of mouth size	3782	KCNN3	ORPHA:3473
HP:0011337	Abnormality of mouth size	4247	MGAT2	OMIM:212066
HP:0011337	Abnormality of mouth size	9653	HS2ST1	OMIM:619194
HP:0011337	Abnormality of mouth size	3981	LIG4	ORPHA:235
HP:0011337	Abnormality of mouth size	54888	NSUN2	ORPHA:235
HP:0011337	Abnormality of mouth size	8493	PPM1D	OMIM:617450
HP:0011337	Abnormality of mouth size	10717	AP4B1	OMIM:614066
HP:0011337	Abnormality of mouth size	10717	AP4B1	ORPHA:280763
HP:0011337	Abnormality of mouth size	11154	AP4S1	OMIM:614067
HP:0011337	Abnormality of mouth size	11154	AP4S1	ORPHA:280763
HP:0011337	Abnormality of mouth size	7862	BRPF1	OMIM:617333
HP:0011337	Abnormality of mouth size	8363	H4C11	OMIM:619759
HP:0011337	Abnormality of mouth size	5604	MAP2K1	OMIM:615279
HP:0011337	Abnormality of mouth size	5290	PIK3CA	ORPHA:60040
HP:0011337	Abnormality of mouth size	26053	AUTS2	OMIM:615834
HP:0011337	Abnormality of mouth size	10013	HDAC6	ORPHA:163966
HP:0011337	Abnormality of mouth size	6804	STX1A	ORPHA:904
HP:0011337	Abnormality of mouth size	7461	CLIP2	ORPHA:904
HP:0011337	Abnormality of mouth size	84277	DNAJC30	ORPHA:904
HP:0011337	Abnormality of mouth size	8468	FKBP6	ORPHA:904
HP:0011337	Abnormality of mouth size	5982	RFC2	ORPHA:904
HP:0011337	Abnormality of mouth size	2969	GTF2I	ORPHA:904
HP:0011337	Abnormality of mouth size	3984	LIMK1	ORPHA:904
HP:0011337	Abnormality of mouth size	9569	GTF2IRD1	ORPHA:904
HP:0011337	Abnormality of mouth size	155382	VPS37D	ORPHA:904
HP:0011337	Abnormality of mouth size	155368	METTL27	ORPHA:904
HP:0011337	Abnormality of mouth size	114049	BUD23	ORPHA:904
HP:0011337	Abnormality of mouth size	7458	EIF4H	ORPHA:904
HP:0011337	Abnormality of mouth size	84163	GTF2IRD2	ORPHA:904
HP:0011337	Abnormality of mouth size	9275	BCL7B	ORPHA:904
HP:0011337	Abnormality of mouth size	26608	TBL2	ORPHA:904
HP:0011337	Abnormality of mouth size	653361	NCF1	ORPHA:904
HP:0011337	Abnormality of mouth size	135886	TMEM270	ORPHA:904
HP:0011337	Abnormality of mouth size	51085	MLXIPL	ORPHA:904
HP:0011337	Abnormality of mouth size	9031	BAZ1B	ORPHA:904
HP:0011337	Abnormality of mouth size	2006	ELN	ORPHA:904
HP:0011337	Abnormality of mouth size	116115	ZNF526	OMIM:619877
HP:0011337	Abnormality of mouth size	79753	SNIP1	OMIM:614501
HP:0011337	Abnormality of mouth size	8364	H4C3	OMIM:619758
HP:0011337	Abnormality of mouth size	6638	SNRPN	OMIM:105830
HP:0011337	Abnormality of mouth size	6638	SNRPN	ORPHA:177907
HP:0011337	Abnormality of mouth size	6638	SNRPN	ORPHA:411515
HP:0011337	Abnormality of mouth size	7337	UBE3A	OMIM:105830
HP:0011337	Abnormality of mouth size	7337	UBE3A	ORPHA:98794
HP:0011337	Abnormality of mouth size	7337	UBE3A	ORPHA:98795
HP:0011337	Abnormality of mouth size	7337	UBE3A	ORPHA:411511
HP:0011337	Abnormality of mouth size	7337	UBE3A	ORPHA:411515
HP:0011337	Abnormality of mouth size	9719	ADAMTSL2	OMIM:231050
HP:0011337	Abnormality of mouth size	79796	ALG9	ORPHA:79328
HP:0011337	Abnormality of mouth size	79796	ALG9	OMIM:608776
HP:0011337	Abnormality of mouth size	57459	GATAD2B	ORPHA:363686
HP:0011337	Abnormality of mouth size	57459	GATAD2B	OMIM:615074
HP:0011337	Abnormality of mouth size	6558	SLC12A2	OMIM:619080
HP:0011337	Abnormality of mouth size	253959	RALGAPA1	OMIM:618797
HP:0011337	Abnormality of mouth size	5594	MAPK1	OMIM:619087
HP:0011337	Abnormality of mouth size	4285	MIPEP	OMIM:617228
HP:0011337	Abnormality of mouth size	7025	NR2F1	OMIM:615722
HP:0011337	Abnormality of mouth size	54499	TMCO1	ORPHA:1394
HP:0011337	Abnormality of mouth size	79971	WLS	OMIM:619648
HP:0011337	Abnormality of mouth size	6605	SMARCE1	OMIM:616938
HP:0011337	Abnormality of mouth size	6605	SMARCE1	ORPHA:1465
HP:0011337	Abnormality of mouth size	471	ATIC	OMIM:608688
HP:0011337	Abnormality of mouth size	471	ATIC	ORPHA:250977
HP:0011337	Abnormality of mouth size	6925	TCF4	OMIM:610954
HP:0011337	Abnormality of mouth size	6925	TCF4	ORPHA:2896
HP:0011337	Abnormality of mouth size	10743	RAI1	ORPHA:1713
HP:0011337	Abnormality of mouth size	10430	TMEM147	OMIM:620075
HP:0011337	Abnormality of mouth size	5373	PMM2	ORPHA:79318
HP:0011337	Abnormality of mouth size	2239	GPC4	ORPHA:373
HP:0011337	Abnormality of mouth size	2239	GPC4	OMIM:312870
HP:0011337	Abnormality of mouth size	2719	GPC3	ORPHA:373
HP:0011337	Abnormality of mouth size	2719	GPC3	OMIM:312870
HP:0011337	Abnormality of mouth size	54941	RNF125	OMIM:616260
HP:0011337	Abnormality of mouth size	6949	TCOF1	OMIM:154500
HP:0011337	Abnormality of mouth size	6949	TCOF1	ORPHA:861
HP:0011337	Abnormality of mouth size	9652	SKIC3	OMIM:222470
HP:0011337	Abnormality of mouth size	546	ATRX	OMIM:309580
HP:0011337	Abnormality of mouth size	7994	KAT6A	OMIM:616268
HP:0011337	Abnormality of mouth size	57688	ZSWIM6	ORPHA:1827
HP:0011337	Abnormality of mouth size	51574	LARP7	ORPHA:319671
HP:0011337	Abnormality of mouth size	51574	LARP7	OMIM:615071
HP:0011337	Abnormality of mouth size	51322	WAC	ORPHA:466950
HP:0011337	Abnormality of mouth size	6513	SLC2A1	ORPHA:1942
HP:0011337	Abnormality of mouth size	8831	SYNGAP1	ORPHA:1942
HP:0011337	Abnormality of mouth size	8831	SYNGAP1	ORPHA:544254
HP:0011337	Abnormality of mouth size	1173	AP2M1	ORPHA:1942
HP:0011337	Abnormality of mouth size	6323	SCN1A	ORPHA:1942
HP:0011337	Abnormality of mouth size	340533	NEXMIF	ORPHA:1942
HP:0011337	Abnormality of mouth size	1106	CHD2	ORPHA:1942
HP:0011337	Abnormality of mouth size	6529	SLC6A1	ORPHA:1942
HP:0011337	Abnormality of mouth size	117581	TWIST2	ORPHA:920
HP:0011337	Abnormality of mouth size	117581	TWIST2	OMIM:200110
HP:0011337	Abnormality of mouth size	117581	TWIST2	ORPHA:1231
HP:0011337	Abnormality of mouth size	117581	TWIST2	OMIM:209885
HP:0011337	Abnormality of mouth size	5631	PRPS1	OMIM:300661
HP:0011337	Abnormality of mouth size	8295	TRRAP	OMIM:618454
HP:0011337	Abnormality of mouth size	9742	IFT140	OMIM:266920
HP:0011337	Abnormality of mouth size	54903	MKS1	OMIM:249000
HP:0011337	Abnormality of mouth size	1642	DDB1	OMIM:619426
HP:0011337	Abnormality of mouth size	7319	UBE2A	ORPHA:163956
HP:0011337	Abnormality of mouth size	7319	UBE2A	OMIM:300860
HP:0011337	Abnormality of mouth size	6654	SOS1	OMIM:610733
HP:0011337	Abnormality of mouth size	8905	AP1S2	OMIM:304340
HP:0011337	Abnormality of mouth size	6888	TALDO1	OMIM:606003
HP:0011337	Abnormality of mouth size	10075	HUWE1	OMIM:309590
HP:0011337	Abnormality of mouth size	11160	ERLIN2	ORPHA:280384
HP:0011337	Abnormality of mouth size	11160	ERLIN2	ORPHA:209951
HP:0011337	Abnormality of mouth size	9488	PIGB	OMIM:618580
HP:0011337	Abnormality of mouth size	23013	SPEN	OMIM:619312
HP:0011337	Abnormality of mouth size	56896	DPYSL5	OMIM:619435
HP:0011337	Abnormality of mouth size	23394	ADNP	OMIM:615873
HP:0011337	Abnormality of mouth size	92335	STRADA	ORPHA:500533
HP:0011337	Abnormality of mouth size	92335	STRADA	OMIM:611087
HP:0011337	Abnormality of mouth size	10785	WDR4	OMIM:618347
HP:0011337	Abnormality of mouth size	6418	SET	OMIM:618106
HP:0011337	Abnormality of mouth size	91147	TMEM67	OMIM:216360
HP:0011337	Abnormality of mouth size	128869	PIGU	OMIM:618590
HP:0011337	Abnormality of mouth size	51412	ACTL6B	OMIM:618470
HP:0011337	Abnormality of mouth size	7707	ZNF148	OMIM:617260
HP:0011337	Abnormality of mouth size	57520	HECW2	OMIM:617268
HP:0011337	Abnormality of mouth size	113179	ADAT3	ORPHA:363528
HP:0011337	Abnormality of mouth size	998	CDC42	OMIM:616737
HP:0011337	Abnormality of mouth size	998	CDC42	ORPHA:487796
HP:0011337	Abnormality of mouth size	23097	CDK19	OMIM:618916
HP:0011337	Abnormality of mouth size	9179	AP4M1	OMIM:612936
HP:0011337	Abnormality of mouth size	9179	AP4M1	ORPHA:280763
HP:0011337	Abnormality of mouth size	56975	FAM20C	OMIM:259775
HP:0011337	Abnormality of mouth size	4948	OCA2	ORPHA:98794
HP:0011337	Abnormality of mouth size	55777	MBD5	OMIM:156200
HP:0011337	Abnormality of mouth size	56915	EXOSC5	OMIM:619576
HP:0011337	Abnormality of mouth size	10265	IRX5	OMIM:611174
HP:0011337	Abnormality of mouth size	3643	INSR	OMIM:246200
HP:0011337	Abnormality of mouth size	5977	DPF2	ORPHA:1465
HP:0011337	Abnormality of mouth size	5977	DPF2	OMIM:618027
HP:0011337	Abnormality of mouth size	6601	SMARCC2	ORPHA:1465
HP:0011337	Abnormality of mouth size	196528	ARID2	ORPHA:1465
HP:0011337	Abnormality of mouth size	6664	SOX11	ORPHA:1465
HP:0011337	Abnormality of mouth size	27315	PGAP2	OMIM:614207
HP:0011337	Abnormality of mouth size	201163	FLCN	OMIM:610883
HP:0011337	Abnormality of mouth size	9378	NRXN1	OMIM:614325
HP:0011337	Abnormality of mouth size	9969	MED13	OMIM:618009
HP:0011337	Abnormality of mouth size	1063	CENPF	OMIM:243605
HP:0011337	Abnormality of mouth size	259232	NALCN	OMIM:615419
HP:0011337	Abnormality of mouth size	23389	MED13L	ORPHA:369891
HP:0011337	Abnormality of mouth size	23389	MED13L	OMIM:616789
HP:0011337	Abnormality of mouth size	91647	ATPAF2	OMIM:604273
HP:0011337	Abnormality of mouth size	80311	KLHL15	OMIM:300982
HP:0011337	Abnormality of mouth size	6045	RNF2	OMIM:619460
HP:0011337	Abnormality of mouth size	5422	POLA1	OMIM:301030
HP:0011337	Abnormality of mouth size	10524	KAT5	OMIM:619103
HP:0011337	Abnormality of mouth size	3188	HNRNPH2	OMIM:300986
HP:0011337	Abnormality of mouth size	2475	MTOR	ORPHA:457485
HP:0011337	Abnormality of mouth size	2475	MTOR	OMIM:616638
HP:0011337	Abnormality of mouth size	175	AGA	OMIM:208400
HP:0011337	Abnormality of mouth size	5723	PSPH	ORPHA:79350
HP:0011337	Abnormality of mouth size	26040	SETBP1	ORPHA:798
HP:0011337	Abnormality of mouth size	60	ACTB	OMIM:243310
HP:0011337	Abnormality of mouth size	60	ACTB	ORPHA:2995
HP:0011337	Abnormality of mouth size	50801	KCNK4	OMIM:618381
HP:0011337	Abnormality of mouth size	10771	ZMYND11	OMIM:616083
HP:0011337	Abnormality of mouth size	6197	RPS6KA3	ORPHA:192
HP:0011337	Abnormality of mouth size	57003	CCDC47	OMIM:618268
HP:0011337	Abnormality of mouth size	71	ACTG1	OMIM:614583
HP:0011337	Abnormality of mouth size	71	ACTG1	ORPHA:2995
HP:0011337	Abnormality of mouth size	7737	RNF113A	OMIM:300953
HP:0011337	Abnormality of mouth size	7204	TRIO	OMIM:618825
HP:0011337	Abnormality of mouth size	2588	GALNS	OMIM:253000
HP:0011337	Abnormality of mouth size	9791	PTDSS1	ORPHA:2658
HP:0011337	Abnormality of mouth size	23040	MYT1L	OMIM:616521
HP:0011337	Abnormality of mouth size	285590	SH3PXD2B	ORPHA:137834
HP:0011337	Abnormality of mouth size	285590	SH3PXD2B	OMIM:249420
HP:0011337	Abnormality of mouth size	3425	IDUA	ORPHA:93474
HP:0011337	Abnormality of mouth size	80036	TRPM3	OMIM:620224
HP:0011337	Abnormality of mouth size	84172	POLR1B	ORPHA:861
HP:0011337	Abnormality of mouth size	9533	POLR1C	ORPHA:861
HP:0011337	Abnormality of mouth size	51082	POLR1D	ORPHA:861
HP:0011337	Abnormality of mouth size	374879	ZNF699	OMIM:619488
HP:0011337	Abnormality of mouth size	55617	TASP1	OMIM:618950
HP:0011337	Abnormality of mouth size	4841	NONO	OMIM:300967
HP:0011337	Abnormality of mouth size	4841	NONO	ORPHA:466791
HP:0011337	Abnormality of mouth size	54870	QRICH1	OMIM:617982
HP:0011337	Abnormality of mouth size	29123	ANKRD11	ORPHA:261250
HP:0011337	Abnormality of mouth size	6299	SALL1	ORPHA:857
HP:0011337	Abnormality of mouth size	51339	DACT1	ORPHA:857
HP:0011337	Abnormality of mouth size	2799	GNS	OMIM:252940
HP:0011337	Abnormality of mouth size	6748	SSR4	ORPHA:370927
HP:0011337	Abnormality of mouth size	6748	SSR4	OMIM:300934
HP:0011337	Abnormality of mouth size	9320	TRIP12	OMIM:617752
HP:0011337	Abnormality of mouth size	51780	KDM3B	OMIM:618846
HP:0011337	Abnormality of mouth size	1663	DDX11	OMIM:613398
HP:0011337	Abnormality of mouth size	9487	PIGL	OMIM:280000
HP:0011337	Abnormality of mouth size	9757	KMT2B	OMIM:619934
HP:0011337	Abnormality of mouth size	3778	KCNMA1	OMIM:618729
HP:0011337	Abnormality of mouth size	64802	NMNAT1	OMIM:619260
HP:0011337	Abnormality of mouth size	1806	DPYD	ORPHA:293948
HP:0011337	Abnormality of mouth size	57194	ATP10A	ORPHA:411515
HP:0011337	Abnormality of mouth size	2137	EXTL3	ORPHA:508533
HP:0011337	Abnormality of mouth size	25970	SH2B1	ORPHA:261222
HP:0011337	Abnormality of mouth size	4621	MYH3	ORPHA:2053
HP:0011337	Abnormality of mouth size	4621	MYH3	OMIM:618436
HP:0011337	Abnormality of mouth size	4621	MYH3	ORPHA:1146
HP:0011337	Abnormality of mouth size	4621	MYH3	OMIM:193700
HP:0011337	Abnormality of mouth size	324	APC	ORPHA:261584
HP:0011337	Abnormality of mouth size	894	CCND2	ORPHA:83473
HP:0011337	Abnormality of mouth size	5296	PIK3R2	ORPHA:83473
HP:0011337	Abnormality of mouth size	10000	AKT3	ORPHA:83473
HP:0011337	Abnormality of mouth size	775	CACNA1C	OMIM:620029
HP:0011337	Abnormality of mouth size	5077	PAX3	ORPHA:1529
HP:0011337	Abnormality of mouth size	4774	NFIA	OMIM:613735
HP:0011337	Abnormality of mouth size	5457	POU4F1	ORPHA:314647
HP:0011337	Abnormality of mouth size	23261	CAMTA1	ORPHA:314647
HP:0011337	Abnormality of mouth size	23261	CAMTA1	OMIM:614756
HP:0011337	Abnormality of mouth size	2629	GBA1	OMIM:608013
HP:0011337	Abnormality of mouth size	23126	POGZ	ORPHA:468678
HP:0011337	Abnormality of mouth size	5447	POR	ORPHA:95699
HP:0011337	Abnormality of mouth size	4784	NFIX	ORPHA:447980
HP:0011337	Abnormality of mouth size	4784	NFIX	ORPHA:420179
HP:0011337	Abnormality of mouth size	4784	NFIX	OMIM:614753
HP:0011337	Abnormality of mouth size	4312	MMP1	ORPHA:79408
HP:0011337	Abnormality of mouth size	4312	MMP1	OMIM:226600
HP:0011337	Abnormality of mouth size	1294	COL7A1	ORPHA:79408
HP:0011337	Abnormality of mouth size	1294	COL7A1	OMIM:226600
HP:0011337	Abnormality of mouth size	1294	COL7A1	ORPHA:89842
HP:0011337	Abnormality of mouth size	116931	MED12L	OMIM:618872
HP:0011337	Abnormality of mouth size	613	BCR	ORPHA:261330
HP:0011337	Abnormality of mouth size	1399	CRKL	ORPHA:261330
HP:0011337	Abnormality of mouth size	51506	UFC1	OMIM:618076
HP:0011337	Abnormality of mouth size	4010	LMX1B	ORPHA:495818
HP:0011337	Abnormality of mouth size	6812	STXBP1	ORPHA:495818
HP:0011337	Abnormality of mouth size	341640	FREM2	OMIM:617666
HP:0011337	Abnormality of mouth size	25914	RTTN	OMIM:614833
HP:0011337	Abnormality of mouth size	25914	RTTN	ORPHA:468631
HP:0011337	Abnormality of mouth size	10084	PQBP1	ORPHA:93946
HP:0011337	Abnormality of mouth size	10084	PQBP1	OMIM:309500
HP:0011337	Abnormality of mouth size	6662	SOX9	OMIM:114290
HP:0011337	Abnormality of mouth size	28960	DCPS	OMIM:616459
HP:0011337	Abnormality of mouth size	55636	CHD7	ORPHA:138
HP:0011337	Abnormality of mouth size	9723	SEMA3E	ORPHA:138
HP:0011337	Abnormality of mouth size	9382	COG1	OMIM:611209
HP:0011337	Abnormality of mouth size	9382	COG1	ORPHA:263508
HP:0011337	Abnormality of mouth size	1146	CHRNG	OMIM:265000
HP:0011337	Abnormality of mouth size	80204	FBXO11	OMIM:618089
HP:0011337	Abnormality of mouth size	113189	CHST14	ORPHA:2953
HP:0011337	Abnormality of mouth size	113189	CHST14	OMIM:601776
HP:0011337	Abnormality of mouth size	29940	DSE	ORPHA:2953
HP:0011337	Abnormality of mouth size	29940	DSE	OMIM:615539
HP:0011337	Abnormality of mouth size	4853	NOTCH2	OMIM:102500
HP:0011337	Abnormality of mouth size	4853	NOTCH2	ORPHA:955
HP:0011337	Abnormality of mouth size	55681	SCYL2	OMIM:618766
HP:0011337	Abnormality of mouth size	55699	IARS2	ORPHA:436174
HP:0011337	Abnormality of mouth size	55699	IARS2	OMIM:616007
HP:0011337	Abnormality of mouth size	4604	MYBPC1	OMIM:618524
HP:0011337	Abnormality of mouth size	4604	MYBPC1	ORPHA:1146
HP:0011337	Abnormality of mouth size	2200	FBN1	ORPHA:969
HP:0011337	Abnormality of mouth size	2200	FBN1	OMIM:102370
HP:0011337	Abnormality of mouth size	4054	LTBP3	ORPHA:969
HP:0011337	Abnormality of mouth size	3339	HSPG2	ORPHA:1865
HP:0011337	Abnormality of mouth size	3339	HSPG2	ORPHA:1606
HP:0011337	Abnormality of mouth size	3339	HSPG2	OMIM:224410
HP:0011337	Abnormality of mouth size	3339	HSPG2	OMIM:255800
HP:0011337	Abnormality of mouth size	3339	HSPG2	ORPHA:800
HP:0011337	Abnormality of mouth size	9401	RECQL4	OMIM:218600
HP:0011337	Abnormality of mouth size	9401	RECQL4	ORPHA:1225
HP:0011337	Abnormality of mouth size	857	CAV1	OMIM:606721
HP:0011337	Abnormality of mouth size	1281	COL3A1	ORPHA:286
HP:0011337	Abnormality of mouth size	64919	BCL11B	OMIM:618092
HP:0011337	Abnormality of mouth size	5424	POLD1	OMIM:615381
HP:0011337	Abnormality of mouth size	1301	COL11A1	OMIM:228520
HP:0011337	Abnormality of mouth size	1301	COL11A1	ORPHA:2021
HP:0011337	Abnormality of mouth size	4174	MCM5	OMIM:617564
HP:0011337	Abnormality of mouth size	23327	NEDD4L	OMIM:617201
HP:0011337	Abnormality of mouth size	23314	SATB2	OMIM:612313
HP:0011337	Abnormality of mouth size	23314	SATB2	ORPHA:251028
HP:0011337	Abnormality of mouth size	23314	SATB2	ORPHA:251019
HP:0011337	Abnormality of mouth size	1302	COL11A2	ORPHA:2021
HP:0011337	Abnormality of mouth size	1906	EDN1	ORPHA:137888
HP:0011337	Abnormality of mouth size	5332	PLCB4	ORPHA:137888
HP:0011337	Abnormality of mouth size	5332	PLCB4	OMIM:614669
HP:0011337	Abnormality of mouth size	2773	GNAI3	ORPHA:137888
HP:0011337	Abnormality of mouth size	2773	GNAI3	OMIM:602483
HP:0011337	Abnormality of mouth size	5728	PTEN	ORPHA:79076
HP:0011337	Abnormality of mouth size	5728	PTEN	OMIM:158350
HP:0011337	Abnormality of mouth size	657	BMPR1A	ORPHA:79076
HP:0011337	Abnormality of mouth size	25942	SIN3A	OMIM:613406
HP:0011337	Abnormality of mouth size	25942	SIN3A	ORPHA:94065
HP:0011337	Abnormality of mouth size	2697	GJA1	OMIM:257850
HP:0011337	Abnormality of mouth size	2316	FLNA	ORPHA:90652
HP:0011337	Abnormality of mouth size	2316	FLNA	OMIM:304120
HP:0011337	Abnormality of mouth size	2316	FLNA	OMIM:311300
HP:0011337	Abnormality of mouth size	10801	SEPTIN9	OMIM:162100
HP:0011337	Abnormality of mouth size	10801	SEPTIN9	ORPHA:2901
HP:0011337	Abnormality of mouth size	11285	B4GALT7	OMIM:130070
HP:0011337	Abnormality of mouth size	11285	B4GALT7	ORPHA:75496
HP:0011337	Abnormality of mouth size	1182	CLCN3	OMIM:619512
HP:0011337	Abnormality of mouth size	4593	MUSK	OMIM:208150
HP:0011337	Abnormality of mouth size	5048	PAFAH1B1	ORPHA:217385
HP:0011337	Abnormality of mouth size	7531	YWHAE	ORPHA:217385
HP:0011337	Abnormality of mouth size	79633	FAT4	OMIM:616006
HP:0011337	Abnormality of mouth size	79633	FAT4	ORPHA:2136
HP:0011337	Abnormality of mouth size	79633	FAT4	ORPHA:314679
HP:0011337	Abnormality of mouth size	9508	ADAMTS3	ORPHA:2136
HP:0011337	Abnormality of mouth size	147372	CCBE1	ORPHA:2136
HP:0011337	Abnormality of mouth size	147372	CCBE1	OMIM:235510
HP:0011337	Abnormality of mouth size	10290	SPEG	OMIM:615959
HP:0011337	Abnormality of mouth size	10290	SPEG	ORPHA:169186
HP:0011337	Abnormality of mouth size	5590	PRKCZ	ORPHA:1606
HP:0011337	Abnormality of mouth size	2563	GABRD	ORPHA:1606
HP:0011337	Abnormality of mouth size	8510	MMP23B	ORPHA:1606
HP:0011337	Abnormality of mouth size	7798	LUZP1	ORPHA:1606
HP:0011337	Abnormality of mouth size	6497	SKI	ORPHA:1606
HP:0011337	Abnormality of mouth size	10630	PDPN	ORPHA:1606
HP:0011337	Abnormality of mouth size	10277	UBE4B	ORPHA:1606
HP:0011337	Abnormality of mouth size	8514	KCNAB2	ORPHA:1606
HP:0011337	Abnormality of mouth size	473	RERE	ORPHA:1606
HP:0011337	Abnormality of mouth size	63976	PRDM16	ORPHA:1606
HP:0011337	Abnormality of mouth size	54897	CASZ1	ORPHA:1606
HP:0011337	Abnormality of mouth size	8626	TP63	OMIM:129400
HP:0011337	Abnormality of mouth size	6134	RPL10	ORPHA:459070
HP:0011337	Abnormality of mouth size	6134	RPL10	OMIM:300998
HP:0011337	Abnormality of mouth size	11128	POLR3A	OMIM:264090
HP:0011337	Abnormality of mouth size	11128	POLR3A	ORPHA:3455
HP:0011337	Abnormality of mouth size	3675	ITGA3	OMIM:614748
HP:0011337	Abnormality of mouth size	145258	GSC	OMIM:602471
HP:0011337	Abnormality of mouth size	10907	TXNL4A	OMIM:608572
HP:0011337	Abnormality of mouth size	55027	HEATR3	OMIM:620072
HP:0011337	Abnormality of mouth size	26137	ZBTB20	OMIM:259050
HP:0011337	Abnormality of mouth size	4094	MAF	ORPHA:1272
HP:0011337	Abnormality of mouth size	4094	MAF	OMIM:601088
HP:0011337	Abnormality of mouth size	4089	SMAD4	OMIM:139210
HP:0011337	Abnormality of mouth size	4089	SMAD4	ORPHA:2588
HP:0011337	Abnormality of mouth size	54928	BPNT2	OMIM:614078
HP:0011337	Abnormality of mouth size	2263	FGFR2	OMIM:123790
HP:0011337	Abnormality of mouth size	2263	FGFR2	ORPHA:1555
HP:0011337	Abnormality of mouth size	7140	TNNT3	OMIM:618435
HP:0011337	Abnormality of mouth size	7140	TNNT3	ORPHA:1146
HP:0011337	Abnormality of mouth size	8642	DCHS1	ORPHA:314679
HP:0011337	Abnormality of mouth size	5832	ALDH18A1	OMIM:219150
HP:0011337	Abnormality of mouth size	84919	PPP1R15B	OMIM:616817
HP:0011337	Abnormality of mouth size	84919	PPP1R15B	ORPHA:391408
HP:0011337	Abnormality of mouth size	388015	RTL1	ORPHA:96334
HP:0011337	Abnormality of mouth size	388015	RTL1	ORPHA:96184
HP:0011337	Abnormality of mouth size	8788	DLK1	ORPHA:96334
HP:0011337	Abnormality of mouth size	8788	DLK1	ORPHA:96184
HP:0011337	Abnormality of mouth size	55384	MEG3	ORPHA:96334
HP:0011337	Abnormality of mouth size	55384	MEG3	ORPHA:96184
HP:0011337	Abnormality of mouth size	91949	COG7	ORPHA:79333
HP:0011337	Abnormality of mouth size	91949	COG7	OMIM:608779
HP:0011337	Abnormality of mouth size	124583	CANT1	OMIM:251450
HP:0011337	Abnormality of mouth size	2556	GABRA3	OMIM:301091
HP:0011337	Abnormality of mouth size	63895	PIEZO2	OMIM:248700
HP:0011337	Abnormality of mouth size	63895	PIEZO2	ORPHA:2461
HP:0011337	Abnormality of mouth size	23162	MAPK8IP3	OMIM:618443
HP:0011337	Abnormality of mouth size	23483	TGDS	OMIM:616145
HP:0011337	Abnormality of mouth size	4193	MDM2	OMIM:618681
HP:0011337	Abnormality of mouth size	7169	TPM2	ORPHA:1146
HP:0011337	Abnormality of mouth size	7169	TPM2	OMIM:108120
HP:0011337	Abnormality of mouth size	7136	TNNI2	ORPHA:1146
HP:0011337	Abnormality of mouth size	7136	TNNI2	OMIM:601680
HP:0011337	Abnormality of mouth size	6261	RYR1	ORPHA:324581
HP:0011337	Abnormality of mouth size	6261	RYR1	ORPHA:169186
HP:0011337	Abnormality of mouth size	171023	ASXL1	OMIM:605039
HP:0011337	Abnormality of mouth size	8621	CDK13	OMIM:617360
HP:0011337	Abnormality of mouth size	9775	EIF4A3	OMIM:268305
HP:0011337	Abnormality of mouth size	9427	ECEL1	OMIM:615065
HP:0011337	Abnormality of mouth size	55212	BBS7	OMIM:615984
HP:0011337	Abnormality of mouth size	6878	TAF6	OMIM:617126
HP:0011337	Abnormality of mouth size	10664	CTCF	OMIM:615502
HP:0011337	Abnormality of mouth size	10664	CTCF	ORPHA:363611
HP:0011337	Abnormality of mouth size	9949	AMMECR1	OMIM:300990
HP:0011337	Abnormality of mouth size	274	BIN1	ORPHA:169186
HP:0011337	Abnormality of mouth size	7273	TTN	ORPHA:169186
HP:0011337	Abnormality of mouth size	1280	COL2A1	OMIM:132450
HP:0011337	Abnormality of mouth size	55217	TMLHE	OMIM:300872
HP:0011337	Abnormality of mouth size	22856	CHSY1	ORPHA:363417
HP:0011337	Abnormality of mouth size	5396	PRRX1	OMIM:202650
HP:0011337	Abnormality of mouth size	5396	PRRX1	ORPHA:990
HP:0011337	Abnormality of mouth size	4703	NEB	OMIM:256030
HP:0011337	Abnormality of mouth size	7473	WNT3	ORPHA:3301
HP:0011337	Abnormality of mouth size	340419	RSPO2	ORPHA:3301
HP:0011337	Abnormality of mouth size	221496	LEMD2	OMIM:619322
HP:0011337	Abnormality of mouth size	650	BMP2	ORPHA:261295
HP:0011337	Abnormality of mouth size	91179	SCARF2	OMIM:600920
HP:0011337	Abnormality of mouth size	6651	SON	OMIM:617140
HP:0011337	Abnormality of mouth size	54101	RIPK4	ORPHA:1234
HP:0011337	Abnormality of mouth size	3097	HIVEP2	OMIM:616977
HP:0011337	Abnormality of mouth size	10982	MAPRE2	OMIM:616734
HP:0011337	Abnormality of mouth size	10269	ZMPSTE24	ORPHA:90154
HP:0011337	Abnormality of mouth size	10269	ZMPSTE24	OMIM:608612
HP:0011337	Abnormality of mouth size	10269	ZMPSTE24	ORPHA:740
HP:0011337	Abnormality of mouth size	10269	ZMPSTE24	ORPHA:1662
HP:0011337	Abnormality of mouth size	10269	ZMPSTE24	OMIM:275210
HP:0011337	Abnormality of mouth size	51132	RLIM	OMIM:300978
HP:0011337	Abnormality of mouth size	22930	RAB3GAP1	OMIM:600118
HP:0011337	Abnormality of mouth size	4998	ORC1	OMIM:224690
HP:0011337	Abnormality of mouth size	4998	ORC1	ORPHA:2554
HP:0011337	Abnormality of mouth size	9325	TRIP4	OMIM:616866
HP:0011337	Abnormality of mouth size	1312	COMT	ORPHA:567
HP:0011337	Abnormality of mouth size	221037	JMJD1C	ORPHA:567
HP:0011337	Abnormality of mouth size	2812	GP1BB	ORPHA:567
HP:0011337	Abnormality of mouth size	6239	RREB1	ORPHA:567
HP:0011337	Abnormality of mouth size	6899	TBX1	ORPHA:567
HP:0011337	Abnormality of mouth size	7290	HIRA	ORPHA:567
HP:0011337	Abnormality of mouth size	9632	SEC24C	ORPHA:567
HP:0011337	Abnormality of mouth size	7353	UFD1	ORPHA:567
HP:0011337	Abnormality of mouth size	421	ARVCF	ORPHA:567
HP:0011337	Abnormality of mouth size	81620	CDT1	ORPHA:2554
HP:0011337	Abnormality of mouth size	81620	CDT1	OMIM:613804
HP:0011337	Abnormality of mouth size	5000	ORC4	ORPHA:2554
HP:0011337	Abnormality of mouth size	5000	ORC4	OMIM:613800
HP:0011337	Abnormality of mouth size	23594	ORC6	ORPHA:2554
HP:0011337	Abnormality of mouth size	23594	ORC6	OMIM:613803
HP:0011337	Abnormality of mouth size	8318	CDC45	ORPHA:2554
HP:0011337	Abnormality of mouth size	8318	CDC45	OMIM:617063
HP:0011337	Abnormality of mouth size	990	CDC6	ORPHA:2554
HP:0011337	Abnormality of mouth size	51053	GMNN	ORPHA:2554
HP:0011337	Abnormality of mouth size	7703	PCGF2	OMIM:618371
HP:0011337	Abnormality of mouth size	9496	TBX4	ORPHA:261279
HP:0011337	Abnormality of mouth size	5277	PIGA	OMIM:300868
HP:0011337	Abnormality of mouth size	128637	TBC1D20	OMIM:615663
HP:0011337	Abnormality of mouth size	55210	ATAD3A	OMIM:618810
HP:0011337	Abnormality of mouth size	9244	CRLF1	OMIM:272430
HP:0011337	Abnormality of mouth size	9244	CRLF1	ORPHA:1545
HP:0011337	Abnormality of mouth size	55644	OSGEP	OMIM:617729
HP:0011337	Abnormality of mouth size	760	CA2	ORPHA:2785
HP:0011337	Abnormality of mouth size	29980	DONSON	OMIM:251230
HP:0011337	Abnormality of mouth size	6611	SMS	ORPHA:3063
HP:0011337	Abnormality of mouth size	5015	OTX2	ORPHA:990
HP:0011337	Abnormality of mouth size	5281	PIGF	OMIM:619356
HP:0011337	Abnormality of mouth size	29895	MYL11	OMIM:619110
HP:0011337	Abnormality of mouth size	1387	CREBBP	OMIM:180849
HP:0011337	Abnormality of mouth size	2033	EP300	OMIM:180849
HP:0011337	Abnormality of mouth size	29957	SLC25A24	OMIM:612289
HP:0011337	Abnormality of mouth size	79005	SCNM1	OMIM:620107
HP:0011337	Abnormality of mouth size	80152	CENPT	OMIM:618702
HP:0011337	Abnormality of mouth size	23545	ATP6V0A2	OMIM:219200
HP:0011337	Abnormality of mouth size	11198	SUPT16H	OMIM:619480
HP:0011337	Abnormality of mouth size	2887	GRB10	ORPHA:96182
HP:0011337	Abnormality of mouth size	4000	LMNA	ORPHA:740
HP:0011337	Abnormality of mouth size	4000	LMNA	ORPHA:1662
HP:0011337	Abnormality of mouth size	1718	DHCR24	ORPHA:35107
HP:0011337	Abnormality of mouth size	203068	TUBB	OMIM:156610
HP:0011337	Abnormality of mouth size	8567	MADD	OMIM:619004
HP:0011337	Abnormality of mouth size	10651	MTX2	OMIM:619127
HP:0011337	Abnormality of mouth size	9702	CEP57	OMIM:614114
HP:0011337	Abnormality of mouth size	57570	TRMT5	OMIM:616539
HP:0011337	Abnormality of mouth size	7291	TWIST1	OMIM:617746
HP:0011337	Abnormality of mouth size	93587	TRMT10A	ORPHA:391408
HP:0011337	Abnormality of mouth size	2186	BPTF	OMIM:617755
HP:0011337	Abnormality of mouth size	203190	LGI3	OMIM:620007
HP:0011337	Abnormality of mouth size	23529	CLCF1	ORPHA:1545
HP:0011337	Abnormality of mouth size	5727	PTCH1	ORPHA:77301
HP:0011337	Abnormality of mouth size	11011	TLK2	OMIM:618050
HP:0011337	Abnormality of mouth size	9469	CHST3	OMIM:245600
HP:0011337	Abnormality of mouth size	26229	B3GAT3	OMIM:245600
HP:0011337	Abnormality of mouth size	4204	MECP2	OMIM:300260
HP:0011337	Abnormality of mouth size	55553	SOX6	OMIM:618971
HP:0011337	Abnormality of mouth size	3735	KARS1	OMIM:619147
HP:0011337	Abnormality of mouth size	221692	PHACTR1	OMIM:618298
HP:0011337	Abnormality of mouth size	529	ATP6V1E1	OMIM:617402
HP:0011337	Abnormality of mouth size	207	AKT1	OMIM:615109
HP:0011337	Abnormality of mouth size	3480	IGF1R	OMIM:270450
HP:0011337	Abnormality of mouth size	121340	SP7	OMIM:613849
HP:0011332	Hemifacial hypoplasia	22827	PUF60	ORPHA:508488
HP:0011332	Hemifacial hypoplasia	387	RHOA	OMIM:618727
HP:0011332	Hemifacial hypoplasia	147912	SIX5	OMIM:610896
HP:0011332	Hemifacial hypoplasia	10992	SF3B2	OMIM:164210
HP:0011330	Metopic synostosis	4488	MSX2	OMIM:604757
HP:0011330	Metopic synostosis	2077	ERF	OMIM:600775
HP:0011330	Metopic synostosis	8925	HERC1	ORPHA:457359
HP:0011330	Metopic synostosis	3590	IL11RA	OMIM:614188
HP:0011330	Metopic synostosis	51604	PIGT	OMIM:615398
HP:0011330	Metopic synostosis	6651	SON	ORPHA:500150
HP:0011330	Metopic synostosis	158326	FREM1	OMIM:614485
HP:0011330	Metopic synostosis	2737	GLI3	OMIM:175700
HP:0011330	Metopic synostosis	1024	CDK8	OMIM:618748
HP:0011330	Metopic synostosis	57539	WDR35	OMIM:613610
HP:0011330	Metopic synostosis	2260	FGFR1	OMIM:190440
HP:0011330	Metopic synostosis	51259	TMEM216	OMIM:608091
HP:0011330	Metopic synostosis	4774	NFIA	OMIM:613735
HP:0011330	Metopic synostosis	8496	PPFIBP1	OMIM:620024
HP:0011330	Metopic synostosis	3190	HNRNPK	ORPHA:352665
HP:0011330	Metopic synostosis	3190	HNRNPK	ORPHA:453504
HP:0011330	Metopic synostosis	55593	OTUD5	OMIM:301056
HP:0011330	Metopic synostosis	5727	PTCH1	ORPHA:77301
HP:0011330	Metopic synostosis	80816	ASXL3	OMIM:615485
HP:0011330	Metopic synostosis	5277	PIGA	OMIM:300868
HP:0011330	Metopic synostosis	56098	PCDHGC4	OMIM:619880
HP:0011330	Metopic synostosis	10736	SIX2	ORPHA:488437
HP:0011330	Metopic synostosis	1642	DDB1	OMIM:619426
HP:0011330	Metopic synostosis	2719	GPC3	OMIM:312870
HP:0011330	Metopic synostosis	2239	GPC4	OMIM:312870
HP:0001120	Abnormality of corneal size	5309	PITX3	OMIM:107250
HP:0001120	Abnormality of corneal size	2074	ERCC6	OMIM:133540
HP:0001120	Abnormality of corneal size	2074	ERCC6	ORPHA:90324
HP:0001120	Abnormality of corneal size	1409	CRYAA	OMIM:604219
HP:0001120	Abnormality of corneal size	1409	CRYAA	ORPHA:1377
HP:0001120	Abnormality of corneal size	6309	SC5D	ORPHA:46059
HP:0001120	Abnormality of corneal size	5351	PLOD1	OMIM:225400
HP:0001120	Abnormality of corneal size	5351	PLOD1	ORPHA:1900
HP:0001120	Abnormality of corneal size	1161	ERCC8	ORPHA:90324
HP:0001120	Abnormality of corneal size	5080	PAX6	ORPHA:2334
HP:0001120	Abnormality of corneal size	5080	PAX6	OMIM:604229
HP:0001120	Abnormality of corneal size	81857	MED25	OMIM:616449
HP:0001120	Abnormality of corneal size	81857	MED25	ORPHA:464738
HP:0001120	Abnormality of corneal size	406960	MIR184	OMIM:614303
HP:0001120	Abnormality of corneal size	145173	B3GLCT	ORPHA:709
HP:0001120	Abnormality of corneal size	10586	MAB21L2	OMIM:615877
HP:0001120	Abnormality of corneal size	4693	NDP	ORPHA:91495
HP:0001120	Abnormality of corneal size	220202	ATOH7	ORPHA:91495
HP:0001120	Abnormality of corneal size	220202	ATOH7	OMIM:221900
HP:0001120	Abnormality of corneal size	8322	FZD4	ORPHA:91495
HP:0001120	Abnormality of corneal size	7473	WNT3	ORPHA:3301
HP:0001120	Abnormality of corneal size	340419	RSPO2	ORPHA:3301
HP:0001120	Abnormality of corneal size	9839	ZEB2	OMIM:235730
HP:0001120	Abnormality of corneal size	9839	ZEB2	ORPHA:261552
HP:0001120	Abnormality of corneal size	9401	RECQL4	OMIM:268400
HP:0001120	Abnormality of corneal size	4010	LMX1B	OMIM:161200
HP:0001120	Abnormality of corneal size	10733	PLK4	OMIM:616171
HP:0001120	Abnormality of corneal size	9150	CTDP1	OMIM:604168
HP:0001120	Abnormality of corneal size	9150	CTDP1	ORPHA:48431
HP:0001120	Abnormality of corneal size	89910	UBE3B	OMIM:244450
HP:0001120	Abnormality of corneal size	89910	UBE3B	ORPHA:2707
HP:0001120	Abnormality of corneal size	8085	KMT2D	ORPHA:2322
HP:0001120	Abnormality of corneal size	7403	KDM6A	ORPHA:2322
HP:0001120	Abnormality of corneal size	3149	HMGB3	OMIM:300915
HP:0001120	Abnormality of corneal size	387700	SLC16A12	OMIM:612018
HP:0001120	Abnormality of corneal size	2314	FLII	ORPHA:819
HP:0001120	Abnormality of corneal size	23096	IQSEC2	ORPHA:819
HP:0001120	Abnormality of corneal size	10743	RAI1	ORPHA:819
HP:0001120	Abnormality of corneal size	10522	DEAF1	ORPHA:819
HP:0001120	Abnormality of corneal size	10982	MAPRE2	OMIM:616734
HP:0001120	Abnormality of corneal size	10982	MAPRE2	ORPHA:2505
HP:0001120	Abnormality of corneal size	55033	FKBP14	OMIM:614557
HP:0001120	Abnormality of corneal size	55033	FKBP14	ORPHA:300179
HP:0001120	Abnormality of corneal size	4286	MITF	OMIM:617306
HP:0001120	Abnormality of corneal size	2187	FANCB	ORPHA:3412
HP:0001120	Abnormality of corneal size	84892	POMGNT2	ORPHA:899
HP:0001120	Abnormality of corneal size	148789	B3GALNT2	ORPHA:899
HP:0001120	Abnormality of corneal size	1282	COL4A1	ORPHA:899
HP:0001120	Abnormality of corneal size	1282	COL4A1	OMIM:175780
HP:0001120	Abnormality of corneal size	729920	CRPPA	ORPHA:899
HP:0001120	Abnormality of corneal size	10329	RXYLT1	ORPHA:899
HP:0001120	Abnormality of corneal size	1605	DAG1	ORPHA:899
HP:0001120	Abnormality of corneal size	11041	B4GAT1	ORPHA:899
HP:0001120	Abnormality of corneal size	4810	NHS	OMIM:302350
HP:0001120	Abnormality of corneal size	4810	NHS	ORPHA:627
HP:0001120	Abnormality of corneal size	22930	RAB3GAP1	OMIM:600118
HP:0001120	Abnormality of corneal size	22930	RAB3GAP1	ORPHA:2510
HP:0001120	Abnormality of corneal size	54880	BCOR	ORPHA:2712
HP:0001120	Abnormality of corneal size	54880	BCOR	ORPHA:568
HP:0001120	Abnormality of corneal size	54880	BCOR	OMIM:309800
HP:0001120	Abnormality of corneal size	54880	BCOR	OMIM:300166
HP:0001120	Abnormality of corneal size	5015	OTX2	OMIM:610125
HP:0001120	Abnormality of corneal size	2248	FGF3	ORPHA:2791
HP:0001120	Abnormality of corneal size	1063	CENPF	OMIM:243605
HP:0001120	Abnormality of corneal size	646960	PRSS56	OMIM:613517
HP:0001120	Abnormality of corneal size	2697	GJA1	ORPHA:2710
HP:0001120	Abnormality of corneal size	2697	GJA1	OMIM:164200
HP:0001120	Abnormality of corneal size	2697	GJA1	OMIM:257850
HP:0001120	Abnormality of corneal size	8260	NAA10	ORPHA:568
HP:0001120	Abnormality of corneal size	8260	NAA10	OMIM:309800
HP:0001120	Abnormality of corneal size	1420	CRYGC	OMIM:604307
HP:0001120	Abnormality of corneal size	1420	CRYGC	ORPHA:1377
HP:0001120	Abnormality of corneal size	84314	TMEM107	ORPHA:564
HP:0001120	Abnormality of corneal size	26123	TCTN3	ORPHA:564
HP:0001120	Abnormality of corneal size	79867	TCTN2	ORPHA:564
HP:0001120	Abnormality of corneal size	80776	B9D2	ORPHA:564
HP:0001120	Abnormality of corneal size	79600	TCTN1	ORPHA:564
HP:0001120	Abnormality of corneal size	57096	RPGRIP1	ORPHA:564
HP:0001120	Abnormality of corneal size	79848	CSPP1	ORPHA:564
HP:0001120	Abnormality of corneal size	80184	CEP290	ORPHA:564
HP:0001120	Abnormality of corneal size	51259	TMEM216	ORPHA:564
HP:0001120	Abnormality of corneal size	57545	CC2D2A	ORPHA:564
HP:0001120	Abnormality of corneal size	79583	TMEM231	ORPHA:564
HP:0001120	Abnormality of corneal size	91147	TMEM67	ORPHA:564
HP:0001120	Abnormality of corneal size	79770	TXNDC15	ORPHA:564
HP:0001120	Abnormality of corneal size	27077	B9D1	ORPHA:564
HP:0001120	Abnormality of corneal size	23322	RPGRIP1L	ORPHA:564
HP:0001120	Abnormality of corneal size	54903	MKS1	ORPHA:564
HP:0001120	Abnormality of corneal size	65062	TMEM237	ORPHA:564
HP:0001120	Abnormality of corneal size	2068	ERCC2	OMIM:601675
HP:0001120	Abnormality of corneal size	2068	ERCC2	ORPHA:33364
HP:0001120	Abnormality of corneal size	652	BMP4	OMIM:607932
HP:0001120	Abnormality of corneal size	652	BMP4	ORPHA:139471
HP:0001120	Abnormality of corneal size	55714	TENM3	OMIM:615145
HP:0001120	Abnormality of corneal size	10682	EBP	ORPHA:35173
HP:0001120	Abnormality of corneal size	128637	TBC1D20	OMIM:615663
HP:0001120	Abnormality of corneal size	128637	TBC1D20	ORPHA:2510
HP:0001120	Abnormality of corneal size	5950	RBP4	OMIM:615147
HP:0001120	Abnormality of corneal size	7020	TFAP2A	ORPHA:1297
HP:0001120	Abnormality of corneal size	2301	FOXE3	OMIM:610256
HP:0001120	Abnormality of corneal size	57167	SALL4	ORPHA:959
HP:0001120	Abnormality of corneal size	57167	SALL4	ORPHA:233
HP:0001120	Abnormality of corneal size	2313	FLI1	ORPHA:2308
HP:0001120	Abnormality of corneal size	79718	TBL1XR1	ORPHA:487825
HP:0001120	Abnormality of corneal size	79718	TBL1XR1	OMIM:602342
HP:0001120	Abnormality of corneal size	668	FOXL2	OMIM:110100
HP:0001120	Abnormality of corneal size	9935	MAFB	ORPHA:233
HP:0001120	Abnormality of corneal size	1123	CHN1	ORPHA:233
HP:0001120	Abnormality of corneal size	23476	BRD4	ORPHA:199
HP:0001120	Abnormality of corneal size	9126	SMC3	ORPHA:199
HP:0001120	Abnormality of corneal size	8243	SMC1A	ORPHA:199
HP:0001120	Abnormality of corneal size	25836	NIPBL	ORPHA:199
HP:0001120	Abnormality of corneal size	25836	NIPBL	OMIM:122470
HP:0001120	Abnormality of corneal size	55869	HDAC8	ORPHA:199
HP:0001120	Abnormality of corneal size	5885	RAD21	ORPHA:199
HP:0001120	Abnormality of corneal size	2703	GJA8	OMIM:116200
HP:0001120	Abnormality of corneal size	2703	GJA8	ORPHA:1377
HP:0001120	Abnormality of corneal size	10664	CTCF	ORPHA:363611
HP:0001120	Abnormality of corneal size	25782	RAB3GAP2	OMIM:614225
HP:0001120	Abnormality of corneal size	25782	RAB3GAP2	ORPHA:2510
HP:0001120	Abnormality of corneal size	22931	RAB18	OMIM:614222
HP:0001120	Abnormality of corneal size	22931	RAB18	ORPHA:2510
HP:0001120	Abnormality of corneal size	286	ANK1	ORPHA:251066
HP:0001120	Abnormality of corneal size	113189	CHST14	OMIM:601776
HP:0001120	Abnormality of corneal size	136647	MPLKIP	OMIM:234050
HP:0001120	Abnormality of corneal size	136647	MPLKIP	ORPHA:33364
HP:0001120	Abnormality of corneal size	402	ARL2	OMIM:619082
HP:0001120	Abnormality of corneal size	203068	TUBB	OMIM:156610
HP:0001120	Abnormality of corneal size	203068	TUBB	ORPHA:2505
HP:0001120	Abnormality of corneal size	51715	RAB23	OMIM:201000
HP:0001120	Abnormality of corneal size	1806	DPYD	ORPHA:1675
HP:0001120	Abnormality of corneal size	182	JAG1	OMIM:118450
HP:0001120	Abnormality of corneal size	7837	PXDN	OMIM:269400
HP:0001120	Abnormality of corneal size	126792	B3GALT6	ORPHA:536467
HP:0001120	Abnormality of corneal size	57479	PRR12	OMIM:619539
HP:0001120	Abnormality of corneal size	92344	GORAB	ORPHA:2078
HP:0001120	Abnormality of corneal size	5831	PYCR1	ORPHA:2078
HP:0001120	Abnormality of corneal size	170692	ADAMTS18	OMIM:615458
HP:0001120	Abnormality of corneal size	2961	GTF2E2	OMIM:616943
HP:0001120	Abnormality of corneal size	2961	GTF2E2	ORPHA:33364
HP:0001120	Abnormality of corneal size	404672	GTF2H5	ORPHA:33364
HP:0001120	Abnormality of corneal size	833	CARS1	ORPHA:33364
HP:0001120	Abnormality of corneal size	7737	RNF113A	ORPHA:33364
HP:0001120	Abnormality of corneal size	6897	TARS1	ORPHA:33364
HP:0001120	Abnormality of corneal size	2071	ERCC3	ORPHA:33364
HP:0001120	Abnormality of corneal size	3339	HSPG2	OMIM:255800
HP:0001120	Abnormality of corneal size	3339	HSPG2	ORPHA:800
HP:0001120	Abnormality of corneal size	3166	HMX1	OMIM:612109
HP:0001120	Abnormality of corneal size	71	ACTG1	ORPHA:2995
HP:0001120	Abnormality of corneal size	60	ACTB	ORPHA:2995
HP:0001120	Abnormality of corneal size	50945	TBX22	ORPHA:921
HP:0001120	Abnormality of corneal size	3845	KRAS	OMIM:600268
HP:0001120	Abnormality of corneal size	6913	TBX15	OMIM:260660
HP:0001120	Abnormality of corneal size	3832	KIF11	OMIM:152950
HP:0001120	Abnormality of corneal size	1413	CRYBA4	ORPHA:1377
HP:0001120	Abnormality of corneal size	1415	CRYBB2	ORPHA:1377
HP:0001120	Abnormality of corneal size	1414	CRYBB1	ORPHA:1377
HP:0001120	Abnormality of corneal size	1414	CRYBB1	OMIM:611544
HP:0001120	Abnormality of corneal size	1421	CRYGD	ORPHA:1377
HP:0001120	Abnormality of corneal size	7439	BEST1	OMIM:193220
HP:0001120	Abnormality of corneal size	5295	PIK3R1	OMIM:269880
HP:0001120	Abnormality of corneal size	5295	PIK3R1	ORPHA:3163
HP:0001120	Abnormality of corneal size	26277	TINF2	OMIM:268130
HP:0001120	Abnormality of corneal size	7010	TEK	OMIM:617272
HP:0001120	Abnormality of corneal size	26128	KIFBP	OMIM:609460
HP:0001120	Abnormality of corneal size	84168	ANTXR1	OMIM:230740
HP:0001120	Abnormality of corneal size	4519	MT-CYB	ORPHA:137675
HP:0001120	Abnormality of corneal size	6804	STX1A	ORPHA:904
HP:0001120	Abnormality of corneal size	7461	CLIP2	ORPHA:904
HP:0001120	Abnormality of corneal size	84277	DNAJC30	ORPHA:904
HP:0001120	Abnormality of corneal size	8468	FKBP6	ORPHA:904
HP:0001120	Abnormality of corneal size	5982	RFC2	ORPHA:904
HP:0001120	Abnormality of corneal size	2969	GTF2I	ORPHA:904
HP:0001120	Abnormality of corneal size	3984	LIMK1	ORPHA:904
HP:0001120	Abnormality of corneal size	9569	GTF2IRD1	ORPHA:904
HP:0001120	Abnormality of corneal size	155382	VPS37D	ORPHA:904
HP:0001120	Abnormality of corneal size	155368	METTL27	ORPHA:904
HP:0001120	Abnormality of corneal size	114049	BUD23	ORPHA:904
HP:0001120	Abnormality of corneal size	7458	EIF4H	ORPHA:904
HP:0001120	Abnormality of corneal size	84163	GTF2IRD2	ORPHA:904
HP:0001120	Abnormality of corneal size	9275	BCL7B	ORPHA:904
HP:0001120	Abnormality of corneal size	26608	TBL2	ORPHA:904
HP:0001120	Abnormality of corneal size	653361	NCF1	ORPHA:904
HP:0001120	Abnormality of corneal size	135886	TMEM270	ORPHA:904
HP:0001120	Abnormality of corneal size	51085	MLXIPL	ORPHA:904
HP:0001120	Abnormality of corneal size	9031	BAZ1B	ORPHA:904
HP:0001120	Abnormality of corneal size	2006	ELN	ORPHA:904
HP:0001120	Abnormality of corneal size	91851	CHRDL1	OMIM:309300
HP:0001120	Abnormality of corneal size	55624	POMGNT1	OMIM:253280
HP:0001120	Abnormality of corneal size	55624	POMGNT1	ORPHA:370959
HP:0001120	Abnormality of corneal size	5308	PITX2	OMIM:180500
HP:0001120	Abnormality of corneal size	2263	FGFR2	ORPHA:313855
HP:0001120	Abnormality of corneal size	2200	FBN1	ORPHA:284979
HP:0001120	Abnormality of corneal size	3778	KCNMA1	OMIM:618729
HP:0001120	Abnormality of corneal size	1009	CDH11	OMIM:211380
HP:0001120	Abnormality of corneal size	29925	GMPPB	ORPHA:370959
HP:0001120	Abnormality of corneal size	79147	FKRP	ORPHA:370959
HP:0001120	Abnormality of corneal size	79147	FKRP	OMIM:236670
HP:0001120	Abnormality of corneal size	29954	POMT2	ORPHA:370959
HP:0001120	Abnormality of corneal size	29954	POMT2	OMIM:236670
HP:0001120	Abnormality of corneal size	84197	POMK	ORPHA:370959
HP:0001120	Abnormality of corneal size	10585	POMT1	ORPHA:370959
HP:0001120	Abnormality of corneal size	10585	POMT1	OMIM:236670
HP:0001120	Abnormality of corneal size	10815	CPLX1	ORPHA:280
HP:0001120	Abnormality of corneal size	54872	PIGG	ORPHA:280
HP:0001120	Abnormality of corneal size	7469	NELFA	ORPHA:280
HP:0001120	Abnormality of corneal size	1487	CTBP1	ORPHA:280
HP:0001120	Abnormality of corneal size	3954	LETM1	ORPHA:280
HP:0001120	Abnormality of corneal size	7468	NSD2	ORPHA:280
HP:0001120	Abnormality of corneal size	4094	MAF	ORPHA:1272
HP:0001120	Abnormality of corneal size	5515	PPP2CA	OMIM:618354
HP:0001120	Abnormality of corneal size	285590	SH3PXD2B	OMIM:249420
HP:0001120	Abnormality of corneal size	11107	PRDM5	OMIM:614170
HP:0001120	Abnormality of corneal size	1301	COL11A1	OMIM:228520
HP:0001120	Abnormality of corneal size	2245	FGD1	ORPHA:915
HP:0001120	Abnormality of corneal size	79158	GNPTAB	OMIM:252500
HP:0001120	Abnormality of corneal size	4053	LTBP2	OMIM:251750
HP:0001120	Abnormality of corneal size	9215	LARGE1	OMIM:236670
HP:0001120	Abnormality of corneal size	2218	FKTN	OMIM:236670
HP:0001357	Plagiocephaly	7291	TWIST1	ORPHA:794
HP:0001357	Plagiocephaly	7291	TWIST1	OMIM:101400
HP:0001357	Plagiocephaly	7291	TWIST1	OMIM:180750
HP:0001357	Plagiocephaly	2263	FGFR2	ORPHA:794
HP:0001357	Plagiocephaly	2263	FGFR2	OMIM:101400
HP:0001357	Plagiocephaly	2261	FGFR3	ORPHA:794
HP:0001357	Plagiocephaly	2261	FGFR3	ORPHA:53271
HP:0001357	Plagiocephaly	2261	FGFR3	OMIM:602849
HP:0001357	Plagiocephaly	2218	FKTN	ORPHA:272
HP:0001357	Plagiocephaly	23394	ADNP	ORPHA:404448
HP:0001357	Plagiocephaly	26235	FBXL4	OMIM:615471
HP:0001357	Plagiocephaly	104	ADARB1	OMIM:618862
HP:0001357	Plagiocephaly	56896	DPYSL5	OMIM:619435
HP:0001357	Plagiocephaly	3265	HRAS	ORPHA:2612
HP:0001357	Plagiocephaly	3845	KRAS	ORPHA:2612
HP:0001357	Plagiocephaly	4893	NRAS	ORPHA:2612
HP:0001357	Plagiocephaly	1947	EFNB1	ORPHA:1520
HP:0001357	Plagiocephaly	8573	CASK	OMIM:300749
HP:0001357	Plagiocephaly	8924	HERC2	OMIM:615516
HP:0001357	Plagiocephaly	57539	WDR35	OMIM:613610
HP:0001357	Plagiocephaly	6418	SET	OMIM:618106
HP:0001357	Plagiocephaly	4897	NRCAM	OMIM:619833
HP:0001357	Plagiocephaly	7545	ZIC1	OMIM:616602
HP:0001357	Plagiocephaly	56623	INPP5E	OMIM:213300
HP:0001357	Plagiocephaly	170302	ARX	OMIM:308350
HP:0001357	Plagiocephaly	1836	SLC26A2	ORPHA:56304
HP:0001357	Plagiocephaly	27125	AFF4	ORPHA:444077
HP:0001357	Plagiocephaly	5575	PRKAR1B	OMIM:619680
HP:0001357	Plagiocephaly	5515	PPP2CA	OMIM:618354
HP:0001357	Plagiocephaly	9578	CDC42BPB	OMIM:619841
HP:0001357	Plagiocephaly	3020	H3-3A	OMIM:619720
HP:0001357	Plagiocephaly	3021	H3-3B	OMIM:619721
HP:0001357	Plagiocephaly	113179	ADAT3	ORPHA:363528
HP:0001357	Plagiocephaly	283489	CHAMP1	OMIM:616579
HP:0001357	Plagiocephaly	84162	BLTP1	OMIM:617822
HP:0001357	Plagiocephaly	4010	LMX1B	ORPHA:495818
HP:0001357	Plagiocephaly	6812	STXBP1	ORPHA:495818
HP:0001357	Plagiocephaly	55780	ERMARD	ORPHA:75857
HP:0001357	Plagiocephaly	64221	ROBO3	OMIM:607313
HP:0001357	Plagiocephaly	9126	SMC3	OMIM:610759
HP:0001357	Plagiocephaly	55650	PIGV	OMIM:239300
HP:0001357	Plagiocephaly	55650	PIGV	ORPHA:247262
HP:0001357	Plagiocephaly	56975	FAM20C	OMIM:259775
HP:0001357	Plagiocephaly	6904	TBCD	ORPHA:496641
HP:0001357	Plagiocephaly	6904	TBCD	OMIM:617193
HP:0001357	Plagiocephaly	6595	SMARCA2	OMIM:619293
HP:0001357	Plagiocephaly	84992	PIGY	ORPHA:247262
HP:0001357	Plagiocephaly	84720	PIGO	ORPHA:247262
HP:0001357	Plagiocephaly	84720	PIGO	OMIM:614749
HP:0001357	Plagiocephaly	93210	PGAP3	ORPHA:247262
HP:0001357	Plagiocephaly	284098	PIGW	ORPHA:247262
HP:0001357	Plagiocephaly	27315	PGAP2	ORPHA:247262
HP:0001357	Plagiocephaly	9487	PIGL	ORPHA:247262
HP:0001357	Plagiocephaly	9487	PIGL	OMIM:280000
HP:0001357	Plagiocephaly	3190	HNRNPK	OMIM:616580
HP:0001357	Plagiocephaly	57492	ARID1B	OMIM:135900
HP:0001357	Plagiocephaly	57492	ARID1B	ORPHA:251056
HP:0001357	Plagiocephaly	80204	FBXO11	OMIM:618089
HP:0001357	Plagiocephaly	1778	DYNC1H1	OMIM:614563
HP:0001357	Plagiocephaly	9968	MED12	ORPHA:93932
HP:0001357	Plagiocephaly	9968	MED12	OMIM:305450
HP:0001357	Plagiocephaly	10381	TUBB3	ORPHA:300570
HP:0001357	Plagiocephaly	7994	KAT6A	ORPHA:457193
HP:0001357	Plagiocephaly	7994	KAT6A	OMIM:616268
HP:0001357	Plagiocephaly	23184	MESD	OMIM:618644
HP:0001357	Plagiocephaly	26999	CYFIP2	OMIM:618008
HP:0001357	Plagiocephaly	23389	MED13L	ORPHA:369891
HP:0001357	Plagiocephaly	23389	MED13L	OMIM:616789
HP:0001357	Plagiocephaly	7703	PCGF2	OMIM:618371
HP:0001357	Plagiocephaly	652	BMP4	OMIM:607932
HP:0001357	Plagiocephaly	2009	EML1	OMIM:600348
HP:0001357	Plagiocephaly	4330	MN1	OMIM:618774
HP:0001357	Plagiocephaly	23036	ZNF292	OMIM:619188
HP:0001357	Plagiocephaly	51729	WBP11	OMIM:619227
HP:0001357	Plagiocephaly	1301	COL11A1	ORPHA:2021
HP:0001357	Plagiocephaly	1302	COL11A2	ORPHA:2021
HP:0001357	Plagiocephaly	760	CA2	ORPHA:2785
HP:0001357	Plagiocephaly	57167	SALL4	ORPHA:233
HP:0001357	Plagiocephaly	9935	MAFB	ORPHA:233
HP:0001357	Plagiocephaly	1123	CHN1	ORPHA:233
HP:0001357	Plagiocephaly	5518	PPP2R1A	OMIM:616362
HP:0001357	Plagiocephaly	5518	PPP2R1A	ORPHA:457284
HP:0001357	Plagiocephaly	7874	USP7	ORPHA:500055
HP:0001357	Plagiocephaly	57498	KIDINS220	OMIM:617296
HP:0001357	Plagiocephaly	57498	KIDINS220	ORPHA:521390
HP:0001357	Plagiocephaly	57003	CCDC47	OMIM:618268
HP:0001357	Plagiocephaly	1182	CLCN3	OMIM:619512
HP:0001357	Plagiocephaly	112858	TP53RK	OMIM:617730
HP:0001357	Plagiocephaly	54914	FOCAD	OMIM:619991
HP:0001357	Plagiocephaly	5530	PPP3CA	OMIM:618265
HP:0001357	Plagiocephaly	6711	SPTBN1	OMIM:619475
HP:0001357	Plagiocephaly	91461	PKDCC	OMIM:618821
HP:0001357	Plagiocephaly	490	ATP2B1	OMIM:619910
HP:0001357	Plagiocephaly	285175	UNC80	OMIM:616801
HP:0001357	Plagiocephaly	285175	UNC80	ORPHA:371364
HP:0001357	Plagiocephaly	259232	NALCN	ORPHA:371364
HP:0001357	Plagiocephaly	9091	PIGQ	OMIM:618548
HP:0001357	Plagiocephaly	80036	TRPM3	OMIM:620224
HP:0001357	Plagiocephaly	4784	NFIX	ORPHA:420179
HP:0001357	Plagiocephaly	11198	SUPT16H	OMIM:619480
HP:0001357	Plagiocephaly	79813	EHMT1	ORPHA:261652
HP:0001357	Plagiocephaly	58508	KMT2C	ORPHA:261652
HP:0001357	Plagiocephaly	58508	KMT2C	OMIM:617768
HP:0001357	Plagiocephaly	4094	MAF	ORPHA:1272
HP:0001357	Plagiocephaly	374879	ZNF699	OMIM:619488
HP:0001357	Plagiocephaly	8567	MADD	OMIM:619005
HP:0001357	Plagiocephaly	5594	MAPK1	OMIM:619087
HP:0001357	Plagiocephaly	7358	UGDH	OMIM:618792
HP:0001357	Plagiocephaly	4849	CNOT3	OMIM:618672
HP:0001357	Plagiocephaly	6942	TCF20	OMIM:618430
HP:0001357	Plagiocephaly	388015	RTL1	ORPHA:96334
HP:0001357	Plagiocephaly	8788	DLK1	ORPHA:96334
HP:0001357	Plagiocephaly	55384	MEG3	ORPHA:96334
HP:0001357	Plagiocephaly	3187	HNRNPH1	OMIM:620083
HP:0001357	Plagiocephaly	4841	NONO	ORPHA:466791
HP:0001357	Plagiocephaly	126792	B3GALT6	ORPHA:536467
HP:0001357	Plagiocephaly	26137	ZBTB20	ORPHA:3042
HP:0001357	Plagiocephaly	57502	NLGN4X	OMIM:300495
HP:0001357	Plagiocephaly	5879	RAC1	OMIM:617751
HP:0001357	Plagiocephaly	5879	RAC1	ORPHA:500159
HP:0001357	Plagiocephaly	5528	PPP2R5D	ORPHA:457279
HP:0001357	Plagiocephaly	1984	EIF5A	OMIM:619376
HP:0001357	Plagiocephaly	51360	MBTPS2	ORPHA:85284
HP:0001357	Plagiocephaly	51317	PHF21A	OMIM:618725
HP:0001357	Plagiocephaly	84168	ANTXR1	OMIM:230740
HP:0001357	Plagiocephaly	55681	SCYL2	ORPHA:1143
HP:0001357	Plagiocephaly	84570	COL25A1	ORPHA:1143
HP:0001357	Plagiocephaly	57222	ERGIC1	ORPHA:1143
HP:0001357	Plagiocephaly	5430	POLR2A	OMIM:618603
HP:0001357	Plagiocephaly	22856	CHSY1	OMIM:605282
HP:0001357	Plagiocephaly	1807	DPYS	OMIM:222748
HP:0001357	Plagiocephaly	129285	PPP1R21	OMIM:619383
HP:0001357	Plagiocephaly	27161	AGO2	OMIM:619149
HP:0001357	Plagiocephaly	58497	PRUNE1	OMIM:617481
HP:0001357	Plagiocephaly	58497	PRUNE1	ORPHA:544469
HP:0001357	Plagiocephaly	57647	DHX37	OMIM:618731
HP:0001357	Plagiocephaly	8621	CDK13	OMIM:617360
HP:0001357	Plagiocephaly	5881	RAC3	OMIM:618577
HP:0001357	Plagiocephaly	284361	EMC10	OMIM:619264
HP:0001357	Plagiocephaly	1523	CUX1	OMIM:618330
HP:0001357	Plagiocephaly	341208	HEPHL1	OMIM:261990
HP:0001357	Plagiocephaly	25871	NEPRO	OMIM:618853
HP:0001357	Plagiocephaly	196528	ARID2	OMIM:617808
HP:0001357	Plagiocephaly	5277	PIGA	OMIM:301072
HP:0001357	Plagiocephaly	10535	RNASEH2A	ORPHA:51
HP:0001357	Plagiocephaly	84153	RNASEH2C	ORPHA:51
HP:0001357	Plagiocephaly	25939	SAMHD1	ORPHA:51
HP:0001357	Plagiocephaly	79621	RNASEH2B	ORPHA:51
HP:0001357	Plagiocephaly	103	ADAR	ORPHA:51
HP:0001357	Plagiocephaly	11277	TREX1	ORPHA:51
HP:0001357	Plagiocephaly	100147744	RNU7-1	ORPHA:51
HP:0001357	Plagiocephaly	134353	LSM11	ORPHA:51
HP:0001357	Plagiocephaly	64135	IFIH1	ORPHA:51
HP:0001357	Plagiocephaly	389827	MYMK	OMIM:254940
HP:0001357	Plagiocephaly	865	CBFB	OMIM:620099
HP:0001357	Plagiocephaly	6938	TCF12	OMIM:619718
HP:0001357	Plagiocephaly	526	ATP6V1B2	ORPHA:79500
HP:0001357	Plagiocephaly	57465	TBC1D24	ORPHA:79500
HP:0001357	Plagiocephaly	60529	ALX4	OMIM:613451
HP:0001357	Plagiocephaly	815	CAMK2A	OMIM:617798
HP:0001357	Plagiocephaly	2890	GRIA1	OMIM:619927
HP:0001357	Plagiocephaly	781	CACNA2D1	OMIM:620149
HP:0001357	Plagiocephaly	79087	ALG12	ORPHA:79324
HP:0000610	Abnormal choroid morphology	3030	HADHA	ORPHA:5
HP:0000610	Abnormal choroid morphology	3105	HLA-A	ORPHA:179
HP:0000610	Abnormal choroid morphology	84314	TMEM107	ORPHA:564
HP:0000610	Abnormal choroid morphology	26123	TCTN3	ORPHA:564
HP:0000610	Abnormal choroid morphology	79867	TCTN2	ORPHA:564
HP:0000610	Abnormal choroid morphology	80776	B9D2	ORPHA:564
HP:0000610	Abnormal choroid morphology	79600	TCTN1	ORPHA:564
HP:0000610	Abnormal choroid morphology	57096	RPGRIP1	ORPHA:564
HP:0000610	Abnormal choroid morphology	79848	CSPP1	ORPHA:564
HP:0000610	Abnormal choroid morphology	80184	CEP290	ORPHA:564
HP:0000610	Abnormal choroid morphology	51259	TMEM216	ORPHA:564
HP:0000610	Abnormal choroid morphology	57545	CC2D2A	ORPHA:564
HP:0000610	Abnormal choroid morphology	79583	TMEM231	ORPHA:564
HP:0000610	Abnormal choroid morphology	91147	TMEM67	ORPHA:564
HP:0000610	Abnormal choroid morphology	79770	TXNDC15	ORPHA:564
HP:0000610	Abnormal choroid morphology	27077	B9D1	ORPHA:564
HP:0000610	Abnormal choroid morphology	23322	RPGRIP1L	ORPHA:564
HP:0000610	Abnormal choroid morphology	54903	MKS1	ORPHA:564
HP:0000610	Abnormal choroid morphology	65062	TMEM237	ORPHA:564
HP:0000610	Abnormal choroid morphology	55670	PEX26	ORPHA:912
HP:0000610	Abnormal choroid morphology	5824	PEX19	ORPHA:912
HP:0000610	Abnormal choroid morphology	5828	PEX2	ORPHA:912
HP:0000610	Abnormal choroid morphology	8504	PEX3	ORPHA:912
HP:0000610	Abnormal choroid morphology	8799	PEX11B	ORPHA:912
HP:0000610	Abnormal choroid morphology	9409	PEX16	ORPHA:912
HP:0000610	Abnormal choroid morphology	5190	PEX6	ORPHA:912
HP:0000610	Abnormal choroid morphology	5830	PEX5	ORPHA:912
HP:0000610	Abnormal choroid morphology	5189	PEX1	ORPHA:912
HP:0000610	Abnormal choroid morphology	5193	PEX12	ORPHA:912
HP:0000610	Abnormal choroid morphology	5194	PEX13	ORPHA:912
HP:0000610	Abnormal choroid morphology	5195	PEX14	ORPHA:912
HP:0000610	Abnormal choroid morphology	5192	PEX10	ORPHA:912
HP:0000610	Abnormal choroid morphology	4693	NDP	ORPHA:649
HP:0000610	Abnormal choroid morphology	4567	MT-TL1	ORPHA:225
HP:0000610	Abnormal choroid morphology	4556	MT-TE	ORPHA:225
HP:0000610	Abnormal choroid morphology	4566	MT-TK	ORPHA:225
HP:0000610	Abnormal choroid morphology	5456	POU3F4	ORPHA:1435
HP:0000610	Abnormal choroid morphology	346007	EYS	OMIM:602772
HP:0000610	Abnormal choroid morphology	1499	CTNNB1	ORPHA:891
HP:0000610	Abnormal choroid morphology	23554	TSPAN12	ORPHA:891
HP:0000610	Abnormal choroid morphology	4041	LRP5	ORPHA:891
HP:0000610	Abnormal choroid morphology	79797	ZNF408	ORPHA:891
HP:0000610	Abnormal choroid morphology	79797	ZNF408	OMIM:616468
HP:0000610	Abnormal choroid morphology	8322	FZD4	ORPHA:891
HP:0000610	Abnormal choroid morphology	25794	FSCN2	OMIM:607921
HP:0000610	Abnormal choroid morphology	1181	CLCN2	OMIM:615651
HP:0000610	Abnormal choroid morphology	4901	NRL	OMIM:613750
HP:0000610	Abnormal choroid morphology	54820	NDE1	ORPHA:2177
HP:0000610	Abnormal choroid morphology	6295	SAG	OMIM:613758
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	OMIM:215500
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	OMIM:601777
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	ORPHA:75377
HP:0000610	Abnormal choroid morphology	3166	HMX1	OMIM:612109
HP:0000610	Abnormal choroid morphology	1406	CRX	OMIM:120970
HP:0000610	Abnormal choroid morphology	6094	ROM1	OMIM:608133
HP:0000610	Abnormal choroid morphology	5076	PAX2	OMIM:120330
HP:0000610	Abnormal choroid morphology	80781	COL18A1	OMIM:267750
HP:0000610	Abnormal choroid morphology	9227	LRAT	ORPHA:364055
HP:0000610	Abnormal choroid morphology	55812	SPATA7	ORPHA:364055
HP:0000610	Abnormal choroid morphology	6121	RPE65	ORPHA:364055
HP:0000610	Abnormal choroid morphology	6121	RPE65	OMIM:618697
HP:0000610	Abnormal choroid morphology	167691	LCA5	ORPHA:364055
HP:0000610	Abnormal choroid morphology	3845	KRAS	OMIM:600268
HP:0000610	Abnormal choroid morphology	100147744	RNU7-1	OMIM:619487
HP:0000610	Abnormal choroid morphology	182	JAG1	OMIM:118450
HP:0000610	Abnormal choroid morphology	1462	VCAN	OMIM:143200
HP:0000610	Abnormal choroid morphology	2978	GUCA1A	ORPHA:75377
HP:0000610	Abnormal choroid morphology	10166	SLC25A15	ORPHA:415
HP:0000610	Abnormal choroid morphology	10166	SLC25A15	OMIM:238970
HP:0000610	Abnormal choroid morphology	60	ACTB	OMIM:243310
HP:0000610	Abnormal choroid morphology	57167	SALL4	ORPHA:233
HP:0000610	Abnormal choroid morphology	57167	SALL4	ORPHA:959
HP:0000610	Abnormal choroid morphology	9935	MAFB	ORPHA:233
HP:0000610	Abnormal choroid morphology	1123	CHN1	ORPHA:233
HP:0000610	Abnormal choroid morphology	64840	PORCN	OMIM:305600
HP:0000610	Abnormal choroid morphology	64840	PORCN	ORPHA:2092
HP:0000610	Abnormal choroid morphology	8260	NAA10	OMIM:309800
HP:0000610	Abnormal choroid morphology	8260	NAA10	ORPHA:568
HP:0000610	Abnormal choroid morphology	54880	BCOR	OMIM:309800
HP:0000610	Abnormal choroid morphology	54880	BCOR	ORPHA:568
HP:0000610	Abnormal choroid morphology	6711	SPTBN1	OMIM:619475
HP:0000610	Abnormal choroid morphology	56623	INPP5E	OMIM:213300
HP:0000610	Abnormal choroid morphology	56623	INPP5E	ORPHA:1454
HP:0000610	Abnormal choroid morphology	10413	YAP1	OMIM:120433
HP:0000610	Abnormal choroid morphology	10413	YAP1	ORPHA:1473
HP:0000610	Abnormal choroid morphology	9839	ZEB2	OMIM:235730
HP:0000610	Abnormal choroid morphology	6469	SHH	OMIM:611638
HP:0000610	Abnormal choroid morphology	5728	PTEN	ORPHA:744
HP:0000610	Abnormal choroid morphology	207	AKT1	ORPHA:744
HP:0000610	Abnormal choroid morphology	79759	ZNF668	OMIM:620194
HP:0000610	Abnormal choroid morphology	6299	SALL1	OMIM:107480
HP:0000610	Abnormal choroid morphology	6299	SALL1	ORPHA:857
HP:0000610	Abnormal choroid morphology	64412	GZF1	OMIM:617662
HP:0000610	Abnormal choroid morphology	3149	HMGB3	OMIM:300915
HP:0000610	Abnormal choroid morphology	51339	DACT1	ORPHA:857
HP:0000610	Abnormal choroid morphology	9573	GDF3	OMIM:613702
HP:0000610	Abnormal choroid morphology	55636	CHD7	ORPHA:138
HP:0000610	Abnormal choroid morphology	9723	SEMA3E	ORPHA:138
HP:0000610	Abnormal choroid morphology	113246	C12orf57	OMIM:218340
HP:0000610	Abnormal choroid morphology	51322	WAC	ORPHA:284169
HP:0000610	Abnormal choroid morphology	473	RERE	ORPHA:494344
HP:0000610	Abnormal choroid morphology	652	BMP4	ORPHA:139471
HP:0000610	Abnormal choroid morphology	57020	VPS35L	OMIM:619135
HP:0000610	Abnormal choroid morphology	149461	CLDN19	ORPHA:2196
HP:0000610	Abnormal choroid morphology	8573	CASK	ORPHA:163937
HP:0000610	Abnormal choroid morphology	55733	HHAT	ORPHA:1422
HP:0000610	Abnormal choroid morphology	9487	PIGL	OMIM:280000
HP:0000610	Abnormal choroid morphology	8777	MPDZ	OMIM:615219
HP:0000610	Abnormal choroid morphology	5950	RBP4	OMIM:616428
HP:0000610	Abnormal choroid morphology	51524	TMEM138	ORPHA:2318
HP:0000610	Abnormal choroid morphology	23090	ZNF423	ORPHA:2318
HP:0000610	Abnormal choroid morphology	6496	SIX3	OMIM:157170
HP:0000610	Abnormal choroid morphology	50945	TBX22	ORPHA:921
HP:0000610	Abnormal choroid morphology	9897	WASHC5	ORPHA:7
HP:0000610	Abnormal choroid morphology	28952	CCDC22	ORPHA:7
HP:0000610	Abnormal choroid morphology	8842	PROM1	ORPHA:827
HP:0000610	Abnormal choroid morphology	6785	ELOVL4	ORPHA:827
HP:0000610	Abnormal choroid morphology	24	ABCA4	ORPHA:827
HP:0000610	Abnormal choroid morphology	54714	CNGB3	ORPHA:827
HP:0000610	Abnormal choroid morphology	7078	TIMP3	ORPHA:59181
HP:0000610	Abnormal choroid morphology	23418	CRB1	ORPHA:35612
HP:0000610	Abnormal choroid morphology	26022	TMEM98	ORPHA:35612
HP:0000610	Abnormal choroid morphology	6657	SOX2	ORPHA:35612
HP:0000610	Abnormal choroid morphology	220	ALDH1A3	ORPHA:35612
HP:0000610	Abnormal choroid morphology	646960	PRSS56	ORPHA:35612
HP:0000610	Abnormal choroid morphology	83552	MFRP	ORPHA:35612
HP:0000610	Abnormal choroid morphology	30062	RAX	ORPHA:35612
HP:0000610	Abnormal choroid morphology	5015	OTX2	ORPHA:35612
HP:0000610	Abnormal choroid morphology	4990	SIX6	ORPHA:35612
HP:0000610	Abnormal choroid morphology	6017	RLBP1	ORPHA:85128
HP:0000610	Abnormal choroid morphology	64127	NOD2	ORPHA:90340
HP:0000610	Abnormal choroid morphology	4763	NF1	ORPHA:97685
HP:0000610	Abnormal choroid morphology	1188	CLCNKB	OMIM:607364
HP:0000610	Abnormal choroid morphology	2776	GNAQ	ORPHA:3205
HP:0000610	Abnormal choroid morphology	10908	PNPLA6	OMIM:215470
HP:0000610	Abnormal choroid morphology	10908	PNPLA6	ORPHA:1180
HP:0000610	Abnormal choroid morphology	89910	UBE3B	ORPHA:2707
HP:0000610	Abnormal choroid morphology	157680	VPS13B	ORPHA:193
HP:0000610	Abnormal choroid morphology	157680	VPS13B	OMIM:216550
HP:0000610	Abnormal choroid morphology	50939	IMPG2	ORPHA:99000
HP:0000610	Abnormal choroid morphology	3617	IMPG1	ORPHA:99000
HP:0000610	Abnormal choroid morphology	1969	EPHA2	OMIM:116600
HP:0000610	Abnormal choroid morphology	7439	BEST1	OMIM:193220
HP:0000610	Abnormal choroid morphology	85378	TUBGCP6	OMIM:251270
HP:0000610	Abnormal choroid morphology	27229	TUBGCP4	OMIM:616335
HP:0000610	Abnormal choroid morphology	4952	OCRL	ORPHA:534
HP:0000610	Abnormal choroid morphology	84892	POMGNT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	148789	B3GALNT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	79147	FKRP	ORPHA:899
HP:0000610	Abnormal choroid morphology	29954	POMT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	9215	LARGE1	ORPHA:899
HP:0000610	Abnormal choroid morphology	1282	COL4A1	ORPHA:899
HP:0000610	Abnormal choroid morphology	729920	CRPPA	ORPHA:899
HP:0000610	Abnormal choroid morphology	10329	RXYLT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	1605	DAG1	ORPHA:899
HP:0000610	Abnormal choroid morphology	11041	B4GAT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	10585	POMT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	84197	POMK	ORPHA:899
HP:0000610	Abnormal choroid morphology	2218	FKTN	ORPHA:899
HP:0000610	Abnormal choroid morphology	55624	POMGNT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	54539	NDUFB11	ORPHA:2556
HP:0000610	Abnormal choroid morphology	1349	COX7B	ORPHA:2556
HP:0000610	Abnormal choroid morphology	3052	HCCS	ORPHA:2556
HP:0000610	Abnormal choroid morphology	8449	DHX16	OMIM:618733
HP:0000610	Abnormal choroid morphology	3832	KIF11	OMIM:152950
HP:0000610	Abnormal choroid morphology	11235	PDCD10	ORPHA:221061
HP:0000610	Abnormal choroid morphology	83605	CCM2	ORPHA:221061
HP:0000610	Abnormal choroid morphology	889	KRIT1	ORPHA:221061
HP:0000610	Abnormal choroid morphology	7003	TEAD1	OMIM:108985
HP:0000610	Abnormal choroid morphology	2202	EFEMP1	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3075	CFH	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3426	CFI	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3426	CFI	OMIM:615439
HP:0000610	Abnormal choroid morphology	64131	XYLT1	OMIM:264800
HP:0000610	Abnormal choroid morphology	64132	XYLT2	OMIM:264800
HP:0000610	Abnormal choroid morphology	368	ABCC6	OMIM:264800
HP:0000610	Abnormal choroid morphology	368	ABCC6	ORPHA:51608
HP:0000610	Abnormal choroid morphology	5167	ENPP1	ORPHA:51608
HP:0000610	Abnormal choroid morphology	7867	MAPKAPK3	OMIM:617111
HP:0000610	Abnormal choroid morphology	189	AGXT	OMIM:259900
HP:0000610	Abnormal choroid morphology	7123	CLEC3B	OMIM:619977
HP:0000610	Abnormal choroid morphology	2201	FBN2	OMIM:616118
HP:0000610	Abnormal choroid morphology	10516	FBLN5	OMIM:608895
HP:0000610	Abnormal choroid morphology	348	APOE	OMIM:603075
HP:0000610	Abnormal choroid morphology	83872	HMCN1	OMIM:603075
HP:0000610	Abnormal choroid morphology	3078	CFHR1	OMIM:603075
HP:0000610	Abnormal choroid morphology	10878	CFHR3	OMIM:603075
HP:0000610	Abnormal choroid morphology	2192	FBLN1	ORPHA:404451
HP:0000610	Abnormal choroid morphology	3123	HLA-DRB1	OMIM:181000
HP:0000610	Abnormal choroid morphology	8517	IKBKG	OMIM:301081
HP:0000610	Abnormal choroid morphology	5961	PRPH2	OMIM:169150
HP:0000610	Abnormal choroid morphology	94	ACVRL1	OMIM:600376
HP:0000610	Abnormal choroid morphology	10058	ABCB6	OMIM:614497
HP:0000610	Abnormal choroid morphology	65082	VPS33A	OMIM:617303
HP:0000610	Abnormal choroid morphology	6492	SIM1	ORPHA:398079
HP:0000610	Abnormal choroid morphology	54551	MAGEL2	ORPHA:398069
HP:0000610	Abnormal choroid morphology	3458	IFNG	ORPHA:805
HP:0000610	Abnormal choroid morphology	7248	TSC1	ORPHA:805
HP:0000610	Abnormal choroid morphology	7249	TSC2	ORPHA:805
HP:0000610	Abnormal choroid morphology	7490	WT1	OMIM:106210
HP:0000610	Abnormal choroid morphology	5080	PAX6	OMIM:106210
HP:0000610	Abnormal choroid morphology	1638	DCT	OMIM:619165
HP:0000610	Abnormal choroid morphology	125988	MICOS13	OMIM:618329
HP:0000610	Abnormal choroid morphology	285440	CYP4V2	ORPHA:41751
HP:0000610	Abnormal choroid morphology	170692	ADAMTS18	OMIM:615458
HP:0000610	Abnormal choroid morphology	1121	CHM	OMIM:303100
HP:0000610	Abnormal choroid morphology	6102	RP2	OMIM:312600
HP:0000610	Abnormal choroid morphology	1804	DPP6	OMIM:616311
HP:0000610	Abnormal choroid morphology	6935	ZEB1	ORPHA:98973
HP:0000610	Abnormal choroid morphology	30813	VSX1	ORPHA:98973
HP:0000610	Abnormal choroid morphology	58495	OVOL2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	79977	GRHL2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	1296	COL8A2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	114902	C1QTNF5	OMIM:605670
HP:0000610	Abnormal choroid morphology	4942	OAT	ORPHA:414
HP:0001123	Visual field defect	4547	MTTP	ORPHA:14
HP:0001123	Visual field defect	9129	PRPF3	OMIM:601414
HP:0001123	Visual field defect	91137	SLC25A46	OMIM:616505
HP:0001123	Visual field defect	169522	KCNV2	OMIM:610356
HP:0001123	Visual field defect	26504	CNNM4	OMIM:217080
HP:0001123	Visual field defect	686	BTD	ORPHA:79241
HP:0001123	Visual field defect	80207	OPA3	OMIM:165300
HP:0001123	Visual field defect	773	CACNA1A	ORPHA:569
HP:0001123	Visual field defect	112476	PRRT2	ORPHA:569
HP:0001123	Visual field defect	6323	SCN1A	ORPHA:569
HP:0001123	Visual field defect	477	ATP1A2	ORPHA:569
HP:0001123	Visual field defect	114902	C1QTNF5	OMIM:605670
HP:0001123	Visual field defect	4539	MT-ND4L	OMIM:535000
HP:0001123	Visual field defect	4539	MT-ND4L	ORPHA:104
HP:0001123	Visual field defect	4536	MT-ND2	OMIM:535000
HP:0001123	Visual field defect	4536	MT-ND2	ORPHA:104
HP:0001123	Visual field defect	4538	MT-ND4	OMIM:535000
HP:0001123	Visual field defect	4538	MT-ND4	ORPHA:104
HP:0001123	Visual field defect	84277	DNAJC30	ORPHA:104
HP:0001123	Visual field defect	4720	NDUFS2	ORPHA:104
HP:0001123	Visual field defect	778	CACNA1F	OMIM:300476
HP:0001123	Visual field defect	22926	ATF6	ORPHA:49382
HP:0001123	Visual field defect	22926	ATF6	OMIM:616517
HP:0001123	Visual field defect	5146	PDE6C	ORPHA:49382
HP:0001123	Visual field defect	5149	PDE6H	ORPHA:49382
HP:0001123	Visual field defect	2780	GNAT2	ORPHA:49382
HP:0001123	Visual field defect	1261	CNGA3	ORPHA:49382
HP:0001123	Visual field defect	54714	CNGB3	ORPHA:49382
HP:0001123	Visual field defect	54714	CNGB3	ORPHA:827
HP:0001123	Visual field defect	83394	PITPNM3	OMIM:600977
HP:0001123	Visual field defect	9364	RAB28	OMIM:615374
HP:0001123	Visual field defect	6785	ELOVL4	ORPHA:827
HP:0001123	Visual field defect	256471	MFSD8	OMIM:616170
HP:0001123	Visual field defect	2232	FDXR	ORPHA:543470
HP:0001123	Visual field defect	9445	ITM2B	OMIM:616079
HP:0001123	Visual field defect	755	CFAP410	OMIM:617547
HP:0001123	Visual field defect	9927	MFN2	OMIM:601152
HP:0001123	Visual field defect	26191	PTPN22	ORPHA:397
HP:0001123	Visual field defect	3106	HLA-B	ORPHA:397
HP:0001123	Visual field defect	3123	HLA-DRB1	ORPHA:397
HP:0001123	Visual field defect	8974	P4HA2	ORPHA:397
HP:0001123	Visual field defect	4352	MPL	ORPHA:71493
HP:0001123	Visual field defect	7066	THPO	ORPHA:71493
HP:0001123	Visual field defect	3717	JAK2	ORPHA:71493
HP:0001123	Visual field defect	7025	NR2F1	ORPHA:401777
HP:0001123	Visual field defect	7025	NR2F1	OMIM:615722
HP:0001123	Visual field defect	91574	MTRFR	ORPHA:254930
HP:0001123	Visual field defect	4117	MAK	OMIM:614181
HP:0001123	Visual field defect	3769	KCNJ13	OMIM:614186
HP:0001123	Visual field defect	7439	BEST1	ORPHA:1243
HP:0001123	Visual field defect	7439	BEST1	ORPHA:99000
HP:0001123	Visual field defect	1282	COL4A1	OMIM:175780
HP:0001123	Visual field defect	51816	ADA2	ORPHA:820
HP:0001123	Visual field defect	10283	CWC27	ORPHA:166035
HP:0001123	Visual field defect	4072	EPCAM	ORPHA:144
HP:0001123	Visual field defect	4292	MLH1	ORPHA:144
HP:0001123	Visual field defect	5395	PMS2	ORPHA:144
HP:0001123	Visual field defect	27030	MLH3	ORPHA:144
HP:0001123	Visual field defect	22909	FAN1	ORPHA:144
HP:0001123	Visual field defect	7048	TGFBR2	ORPHA:144
HP:0001123	Visual field defect	3845	KRAS	ORPHA:144
HP:0001123	Visual field defect	2956	MSH6	ORPHA:144
HP:0001123	Visual field defect	5378	PMS1	ORPHA:144
HP:0001123	Visual field defect	4436	MSH2	ORPHA:144
HP:0001123	Visual field defect	6011	GRK1	ORPHA:75382
HP:0001123	Visual field defect	200205	IBA57	ORPHA:468661
HP:0001123	Visual field defect	200205	IBA57	OMIM:616451
HP:0001123	Visual field defect	50939	IMPG2	OMIM:613581
HP:0001123	Visual field defect	50939	IMPG2	ORPHA:99000
HP:0001123	Visual field defect	64218	SEMA4A	ORPHA:440437
HP:0001123	Visual field defect	657	BMPR1A	ORPHA:440437
HP:0001123	Visual field defect	6224	RPS20	ORPHA:440437
HP:0001123	Visual field defect	57709	SLC7A14	OMIM:615725
HP:0001123	Visual field defect	4488	MSX2	OMIM:604757
HP:0001123	Visual field defect	10210	TOPORS	OMIM:609923
HP:0001123	Visual field defect	84196	USP48	ORPHA:96253
HP:0001123	Visual field defect	7157	TP53	ORPHA:96253
HP:0001123	Visual field defect	9101	USP8	ORPHA:96253
HP:0001123	Visual field defect	2908	NR3C1	ORPHA:96253
HP:0001123	Visual field defect	546	ATRX	ORPHA:96253
HP:0001123	Visual field defect	3617	IMPG1	ORPHA:99000
HP:0001123	Visual field defect	23370	ARHGEF18	OMIM:617433
HP:0001123	Visual field defect	1181	CLCN2	OMIM:615651
HP:0001123	Visual field defect	80781	COL18A1	OMIM:618880
HP:0001123	Visual field defect	2395	FXN	OMIM:229300
HP:0001123	Visual field defect	79152	FA2H	ORPHA:329308
HP:0001123	Visual field defect	4327	MMP19	OMIM:611543
HP:0001123	Visual field defect	1462	VCAN	OMIM:143200
HP:0001123	Visual field defect	55901	THSD1	ORPHA:231160
HP:0001123	Visual field defect	7049	TGFBR3	ORPHA:231160
HP:0001123	Visual field defect	1281	COL3A1	ORPHA:231160
HP:0001123	Visual field defect	83854	ANGPTL6	ORPHA:231160
HP:0001123	Visual field defect	2022	ENG	ORPHA:231160
HP:0001123	Visual field defect	7078	TIMP3	ORPHA:59181
HP:0001123	Visual field defect	6017	RLBP1	ORPHA:85128
HP:0001123	Visual field defect	50964	SOST	OMIM:269500
HP:0001123	Visual field defect	7287	TULP1	OMIM:600132
HP:0001123	Visual field defect	7287	TULP1	OMIM:613843
HP:0001123	Visual field defect	26160	IFT172	OMIM:619471
HP:0001123	Visual field defect	26121	PRPF31	OMIM:600138
HP:0001123	Visual field defect	10594	PRPF8	OMIM:600059
HP:0001123	Visual field defect	1121	CHM	OMIM:303100
HP:0001123	Visual field defect	5949	RBP3	OMIM:615233
HP:0001123	Visual field defect	5949	RBP3	OMIM:268000
HP:0001123	Visual field defect	583	BBS2	OMIM:616562
HP:0001123	Visual field defect	22901	ARSG	OMIM:618144
HP:0001123	Visual field defect	285440	CYP4V2	ORPHA:41751
HP:0001123	Visual field defect	285440	CYP4V2	OMIM:210370
HP:0001123	Visual field defect	6295	SAG	OMIM:620228
HP:0001123	Visual field defect	84839	RAX2	OMIM:620102
HP:0001123	Visual field defect	23600	AMACR	OMIM:614307
HP:0001123	Visual field defect	5961	PRPH2	OMIM:608133
HP:0001123	Visual field defect	6094	ROM1	OMIM:608133
HP:0001123	Visual field defect	6094	ROM1	OMIM:268000
HP:0001123	Visual field defect	10059	DNM1L	OMIM:610708
HP:0001123	Visual field defect	84100	ARL6	OMIM:268000
HP:0001123	Visual field defect	9227	LRAT	OMIM:268000
HP:0001123	Visual field defect	7401	CLRN1	OMIM:268000
HP:0001123	Visual field defect	5148	PDE6G	OMIM:268000
HP:0001123	Visual field defect	5148	PDE6G	OMIM:613582
HP:0001123	Visual field defect	1259	CNGA1	OMIM:268000
HP:0001123	Visual field defect	23746	AIPL1	OMIM:268000
HP:0001123	Visual field defect	1406	CRX	OMIM:268000
HP:0001123	Visual field defect	1406	CRX	OMIM:120970
HP:0001123	Visual field defect	157657	CFAP418	OMIM:268000
HP:0001123	Visual field defect	157657	CFAP418	OMIM:617406
HP:0001123	Visual field defect	6101	RP1	OMIM:180100
HP:0001123	Visual field defect	3098	HK1	OMIM:617460
HP:0001123	Visual field defect	92211	CDHR1	OMIM:613660
HP:0001123	Visual field defect	3420	IDH3B	OMIM:612572
HP:0001123	Visual field defect	24148	PRPF6	OMIM:613983
HP:0001123	Visual field defect	92840	REEP6	OMIM:617304
HP:0001123	Visual field defect	10461	MERTK	OMIM:613862
HP:0001123	Visual field defect	79947	DHDDS	OMIM:613861
HP:0001123	Visual field defect	9128	PRPF4	OMIM:615922
HP:0001123	Visual field defect	3419	IDH3A	OMIM:619007
HP:0001123	Visual field defect	57545	CC2D2A	OMIM:619845
HP:0001123	Visual field defect	9371	KIF3B	OMIM:618955
HP:0001123	Visual field defect	93589	CACNA2D4	OMIM:610478
HP:0001123	Visual field defect	84140	FAM161A	OMIM:606068
HP:0001123	Visual field defect	5191	PEX7	OMIM:614879
HP:0001123	Visual field defect	4942	OAT	ORPHA:414
HP:0001123	Visual field defect	55670	PEX26	ORPHA:772
HP:0001123	Visual field defect	5824	PEX19	ORPHA:772
HP:0001123	Visual field defect	5828	PEX2	ORPHA:772
HP:0001123	Visual field defect	8504	PEX3	ORPHA:772
HP:0001123	Visual field defect	9409	PEX16	ORPHA:772
HP:0001123	Visual field defect	5190	PEX6	ORPHA:772
HP:0001123	Visual field defect	8799	PEX11B	ORPHA:772
HP:0001123	Visual field defect	5830	PEX5	ORPHA:772
HP:0001123	Visual field defect	5189	PEX1	ORPHA:772
HP:0001123	Visual field defect	5193	PEX12	ORPHA:772
HP:0001123	Visual field defect	5194	PEX13	ORPHA:772
HP:0001123	Visual field defect	5195	PEX14	ORPHA:772
HP:0001123	Visual field defect	5192	PEX10	ORPHA:772
HP:0001123	Visual field defect	346007	EYS	OMIM:602772
HP:0001123	Visual field defect	6452	SH3BP2	OMIM:118400
HP:0001123	Visual field defect	326	AIRE	OMIM:240300
HP:0001123	Visual field defect	79797	ZNF408	OMIM:616469
HP:0001123	Visual field defect	282809	POC1B	OMIM:615973
HP:0001123	Visual field defect	4901	NRL	OMIM:613750
HP:0001123	Visual field defect	10002	NR2E3	OMIM:611131
HP:0001123	Visual field defect	8565	YARS1	OMIM:619418
HP:0001123	Visual field defect	64834	ELOVL1	OMIM:618527
HP:0001123	Visual field defect	138050	HGSNAT	OMIM:616544
HP:0001123	Visual field defect	2779	GNAT1	OMIM:616389
HP:0001123	Visual field defect	80201	HKDC1	OMIM:619614
HP:0001123	Visual field defect	6100	RP9	OMIM:180104
HP:0001123	Visual field defect	55812	SPATA7	OMIM:604232
HP:0001123	Visual field defect	7840	ALMS1	OMIM:203800
HP:0001123	Visual field defect	6102	RP2	OMIM:312600
HP:0001123	Visual field defect	84233	TMEM126A	OMIM:612989
HP:0001123	Visual field defect	4508	MT-ATP6	ORPHA:644
HP:0001123	Visual field defect	3614	IMPDH1	OMIM:180105
HP:0001123	Visual field defect	1678	TIMM8A	OMIM:304700
HP:0001123	Visual field defect	403	ARL3	OMIM:618173
HP:0001123	Visual field defect	6103	RPGR	OMIM:300029
HP:0001123	Visual field defect	8481	OFD1	OMIM:300424
HP:0001123	Visual field defect	24	ABCA4	OMIM:601718
HP:0001123	Visual field defect	55857	KIZ	OMIM:615780
HP:0001123	Visual field defect	55624	POMGNT1	OMIM:617123
HP:0001123	Visual field defect	51109	RDH11	ORPHA:436245
HP:0001123	Visual field defect	375298	CERKL	OMIM:608380
HP:0001123	Visual field defect	5995	RGR	OMIM:613769
HP:0001123	Visual field defect	4976	OPA1	ORPHA:1215
HP:0001123	Visual field defect	136371	ASB10	OMIM:603383
HP:0001123	Visual field defect	6010	RHO	ORPHA:52427
HP:0001123	Visual field defect	5959	RDH5	ORPHA:52427
HP:0001123	Visual field defect	1499	CTNNB1	ORPHA:54595
HP:0001123	Visual field defect	673	BRAF	ORPHA:54595
HP:0001123	Visual field defect	6389	SDHA	OMIM:619259
HP:0001123	Visual field defect	50484	RRM2B	OMIM:268315
HP:0001123	Visual field defect	3423	IDS	ORPHA:217085
HP:0001123	Visual field defect	3423	IDS	ORPHA:217093
HP:0001123	Visual field defect	79140	CCDC28B	OMIM:209900
HP:0001123	Visual field defect	582	BBS1	OMIM:209900
HP:0001123	Visual field defect	6533	SLC6A6	OMIM:145350
HP:0001123	Visual field defect	5145	PDE6A	OMIM:613810
HP:0001123	Visual field defect	130557	ZNF513	OMIM:613617
HP:0001123	Visual field defect	1737	DLAT	ORPHA:79244
HP:0001123	Visual field defect	3000	GUCY2D	OMIM:601777
HP:0001123	Visual field defect	6121	RPE65	ORPHA:364055
HP:0001123	Visual field defect	6121	RPE65	OMIM:618697
HP:0001123	Visual field defect	167691	LCA5	ORPHA:364055
HP:0001123	Visual field defect	9742	IFT140	OMIM:266920
HP:0001123	Visual field defect	100151683	RNU4ATAC	OMIM:226960
HP:0001123	Visual field defect	8842	PROM1	OMIM:612095
HP:0001123	Visual field defect	60509	AGBL5	OMIM:617023
HP:0001123	Visual field defect	79628	SH3TC2	ORPHA:99949
HP:0001123	Visual field defect	1258	CNGB1	OMIM:613767
HP:0001123	Visual field defect	1545	CYP1B1	ORPHA:98977
HP:0001123	Visual field defect	4653	MYOC	ORPHA:98977
HP:0001123	Visual field defect	5456	POU3F4	ORPHA:1435
HP:0001123	Visual field defect	4512	MT-CO1	OMIM:540000
HP:0001123	Visual field defect	4513	MT-CO2	OMIM:540000
HP:0001123	Visual field defect	4514	MT-CO3	OMIM:540000
HP:0001123	Visual field defect	4519	MT-CYB	OMIM:540000
HP:0001123	Visual field defect	4511	MT-TC	OMIM:540000
HP:0001123	Visual field defect	4574	MT-TS1	OMIM:540000
HP:0001123	Visual field defect	4575	MT-TS2	OMIM:540000
HP:0001123	Visual field defect	4575	MT-TS2	ORPHA:231183
HP:0001123	Visual field defect	4558	MT-TF	OMIM:540000
HP:0001123	Visual field defect	4541	MT-ND6	OMIM:540000
HP:0001123	Visual field defect	4567	MT-TL1	OMIM:540000
HP:0001123	Visual field defect	4540	MT-ND5	OMIM:540000
HP:0001123	Visual field defect	4566	MT-TK	OMIM:540000
HP:0001123	Visual field defect	4535	MT-ND1	OMIM:540000
HP:0001123	Visual field defect	4572	MT-TQ	OMIM:540000
HP:0001123	Visual field defect	4577	MT-TV	OMIM:540000
HP:0001123	Visual field defect	4578	MT-TW	OMIM:540000
HP:0001123	Visual field defect	10083	USH1C	ORPHA:231169
HP:0001123	Visual field defect	124590	USH1G	ORPHA:231169
HP:0001123	Visual field defect	83715	ESPN	ORPHA:231169
HP:0001123	Visual field defect	10518	CIB2	ORPHA:231169
HP:0001123	Visual field defect	4647	MYO7A	ORPHA:231169
HP:0001123	Visual field defect	4647	MYO7A	ORPHA:231178
HP:0001123	Visual field defect	65217	PCDH15	ORPHA:231169
HP:0001123	Visual field defect	7399	USH2A	ORPHA:231178
HP:0001123	Visual field defect	79955	PDZD7	ORPHA:231178
HP:0001123	Visual field defect	25861	WHRN	ORPHA:231178
HP:0001123	Visual field defect	84059	ADGRV1	ORPHA:231178
HP:0001123	Visual field defect	11277	TREX1	ORPHA:247691
HP:0001123	Visual field defect	347733	TUBB2B	ORPHA:300573
HP:0001123	Visual field defect	16	AARS1	OMIM:619661
HP:0001123	Visual field defect	83550	GPR101	OMIM:300942
HP:0001123	Visual field defect	9692	PRORP	OMIM:619737
HP:0001123	Visual field defect	5290	PIK3CA	ORPHA:99802
HP:0001123	Visual field defect	2475	MTOR	ORPHA:99802
HP:0001123	Visual field defect	10000	AKT3	ORPHA:99802
HP:0001123	Visual field defect	3035	HARS1	ORPHA:231183
HP:0001123	Visual field defect	84131	CEP78	ORPHA:231183
HP:0001123	Visual field defect	2776	GNAQ	ORPHA:3205
HP:0001123	Visual field defect	55209	SETD5	ORPHA:404440
HP:0001123	Visual field defect	64072	CDH23	ORPHA:91347
HP:0001123	Visual field defect	64072	CDH23	ORPHA:2965
HP:0001123	Visual field defect	4221	MEN1	ORPHA:2965
HP:0001123	Visual field defect	9049	AIP	ORPHA:2965
HP:0001123	Visual field defect	8314	BAP1	ORPHA:2495
HP:0001123	Visual field defect	4771	NF2	ORPHA:2495
HP:0001123	Visual field defect	6598	SMARCB1	ORPHA:2495
HP:0001123	Visual field defect	5155	PDGFB	ORPHA:2495
HP:0001123	Visual field defect	84231	TRAF7	ORPHA:2495
HP:0001123	Visual field defect	6608	SMO	ORPHA:2495
HP:0001123	Visual field defect	207	AKT1	ORPHA:2495
HP:0001123	Visual field defect	7015	TERT	ORPHA:2495
HP:0001123	Visual field defect	51684	SUFU	ORPHA:2495
HP:0001123	Visual field defect	6605	SMARCE1	ORPHA:2495
HP:0001123	Visual field defect	2202	EFEMP1	ORPHA:75376
HP:0001123	Visual field defect	3075	CFH	ORPHA:75376
HP:0001123	Visual field defect	3426	CFI	ORPHA:75376
HP:0001123	Visual field defect	50	ACO2	OMIM:616289
HP:0001123	Visual field defect	51095	TRNT1	OMIM:616959
HP:0001123	Visual field defect	28982	FLVCR1	OMIM:609033
HP:0001123	Visual field defect	3105	HLA-A	ORPHA:179
HP:0001123	Visual field defect	84816	RTN4IP1	OMIM:616732
HP:0001123	Visual field defect	7466	WFS1	OMIM:614296
HP:0007814	Retinal pigment epithelial mottling	2202	EFEMP1	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	3075	CFH	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	3426	CFI	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	85465	SELENOI	ORPHA:506353
HP:0007814	Retinal pigment epithelial mottling	1497	CTNS	OMIM:219800
HP:0007814	Retinal pigment epithelial mottling	1497	CTNS	OMIM:219900
HP:0007814	Retinal pigment epithelial mottling	22926	ATF6	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	5146	PDE6C	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	6103	RPGR	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	6103	RPGR	OMIM:304020
HP:0007814	Retinal pigment epithelial mottling	5149	PDE6H	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	2780	GNAT2	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	1261	CNGA3	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	54714	CNGB3	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	54714	CNGB3	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	1121	CHM	OMIM:303100
HP:0007814	Retinal pigment epithelial mottling	83394	PITPNM3	OMIM:600977
HP:0007814	Retinal pigment epithelial mottling	4683	NBN	OMIM:251260
HP:0007814	Retinal pigment epithelial mottling	1182	CLCN3	OMIM:619517
HP:0007814	Retinal pigment epithelial mottling	285440	CYP4V2	ORPHA:41751
HP:0007814	Retinal pigment epithelial mottling	8842	PROM1	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:75377
HP:0007814	Retinal pigment epithelial mottling	6785	ELOVL4	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	24	ABCA4	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	10383	TUBB4B	OMIM:617879
HP:0007814	Retinal pigment epithelial mottling	4329	ALDH6A1	OMIM:614105
HP:0007814	Retinal pigment epithelial mottling	26504	CNNM4	OMIM:217080
HP:0007814	Retinal pigment epithelial mottling	23761	PISD	OMIM:618889
HP:0007814	Retinal pigment epithelial mottling	6533	SLC6A6	OMIM:145350
HP:0007814	Retinal pigment epithelial mottling	64802	NMNAT1	OMIM:608553
HP:0007814	Retinal pigment epithelial mottling	5189	PEX1	OMIM:234580
HP:0007814	Retinal pigment epithelial mottling	4508	MT-ATP6	ORPHA:644
HP:0007814	Retinal pigment epithelial mottling	4508	MT-ATP6	OMIM:551500
HP:0007814	Retinal pigment epithelial mottling	6017	RLBP1	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	6017	RLBP1	ORPHA:85128
HP:0007814	Retinal pigment epithelial mottling	6010	RHO	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	5959	RDH5	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	9227	LRAT	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	55812	SPATA7	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	6121	RPE65	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	167691	LCA5	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	5428	POLG	OMIM:607459
HP:0007814	Retinal pigment epithelial mottling	56652	TWNK	OMIM:607459
HP:0007814	Retinal pigment epithelial mottling	27072	VPS41	OMIM:619389
HP:0007814	Retinal pigment epithelial mottling	51098	IFT52	OMIM:617102
HP:0007814	Retinal pigment epithelial mottling	755	CFAP410	OMIM:617547
HP:0007814	Retinal pigment epithelial mottling	8449	DHX16	OMIM:618733
HP:0007814	Retinal pigment epithelial mottling	93589	CACNA2D4	OMIM:610478
HP:0007814	Retinal pigment epithelial mottling	1161	ERCC8	OMIM:216400
HP:0007814	Retinal pigment epithelial mottling	3000	GUCY2D	ORPHA:75377
HP:0007814	Retinal pigment epithelial mottling	2978	GUCA1A	ORPHA:75377
HP:0001125	Transient unilateral blurring of vision	773	CACNA1A	OMIM:141500
HP:0001125	Transient unilateral blurring of vision	477	ATP1A2	OMIM:602481
HP:0001128	Trichiasis	1387	CREBBP	ORPHA:353277
HP:0001128	Trichiasis	2706	GJB2	OMIM:148210
HP:0001128	Trichiasis	2033	EP300	ORPHA:353284
HP:0001128	Trichiasis	54892	NCAPG2	OMIM:618460
HP:0001129	Large central visual field defect	285440	CYP4V2	ORPHA:41751
HP:0001129	Large central visual field defect	7078	TIMP3	ORPHA:59181
HP:0001129	Large central visual field defect	6017	RLBP1	ORPHA:85128
HP:0100871	Abnormal palm morphology	23394	ADNP	ORPHA:404448
HP:0100871	Abnormal palm morphology	324	APC	ORPHA:261584
HP:0100871	Abnormal palm morphology	340533	NEXMIF	OMIM:300912
HP:0100871	Abnormal palm morphology	8294	H4C9	OMIM:619951
HP:0100871	Abnormal palm morphology	83932	SPRTN	OMIM:616200
HP:0100871	Abnormal palm morphology	8425	LTBP4	OMIM:613177
HP:0100871	Abnormal palm morphology	51126	NAA20	OMIM:619717
HP:0100871	Abnormal palm morphology	2972	BRF1	OMIM:616202
HP:0100871	Abnormal palm morphology	2972	BRF1	ORPHA:444072
HP:0100871	Abnormal palm morphology	6228	RPS23	OMIM:617412
HP:0100871	Abnormal palm morphology	5885	RAD21	OMIM:614701
HP:0100871	Abnormal palm morphology	55627	SMPD4	OMIM:618622
HP:0100871	Abnormal palm morphology	81857	MED25	OMIM:616449
HP:0100871	Abnormal palm morphology	81857	MED25	ORPHA:464738
HP:0100871	Abnormal palm morphology	123263	MTFMT	OMIM:614947
HP:0100871	Abnormal palm morphology	10274	STAG1	ORPHA:502434
HP:0100871	Abnormal palm morphology	5830	PEX5	OMIM:214110
HP:0100871	Abnormal palm morphology	197131	UBR1	OMIM:243800
HP:0100871	Abnormal palm morphology	9578	CDC42BPB	OMIM:619841
HP:0100871	Abnormal palm morphology	3020	H3-3A	OMIM:619720
HP:0100871	Abnormal palm morphology	10300	KATNB1	OMIM:616212
HP:0100871	Abnormal palm morphology	51506	UFC1	OMIM:618076
HP:0100871	Abnormal palm morphology	55790	CSGALNACT1	OMIM:618870
HP:0100871	Abnormal palm morphology	4010	LMX1B	ORPHA:495818
HP:0100871	Abnormal palm morphology	6812	STXBP1	ORPHA:495818
HP:0100871	Abnormal palm morphology	2137	EXTL3	OMIM:617425
HP:0100871	Abnormal palm morphology	22858	CILK1	OMIM:612651
HP:0100871	Abnormal palm morphology	9382	COG1	OMIM:611209
HP:0100871	Abnormal palm morphology	5189	PEX1	OMIM:214100
HP:0100871	Abnormal palm morphology	6197	RPS6KA3	OMIM:303600
HP:0100871	Abnormal palm morphology	84987	COX14	OMIM:619053
HP:0100871	Abnormal palm morphology	57492	ARID1B	OMIM:135900
HP:0100871	Abnormal palm morphology	54453	RIN2	OMIM:613075
HP:0100871	Abnormal palm morphology	3899	AFF3	OMIM:619297
HP:0100871	Abnormal palm morphology	50814	NSDHL	OMIM:308050
HP:0100871	Abnormal palm morphology	9968	MED12	ORPHA:93932
HP:0100871	Abnormal palm morphology	9968	MED12	OMIM:305450
HP:0100871	Abnormal palm morphology	92579	G6PC3	OMIM:612541
HP:0100871	Abnormal palm morphology	114034	TOE1	OMIM:614969
HP:0100871	Abnormal palm morphology	7020	TFAP2A	OMIM:113620
HP:0100871	Abnormal palm morphology	9896	FIG4	ORPHA:3472
HP:0100871	Abnormal palm morphology	9896	FIG4	OMIM:216340
HP:0100871	Abnormal palm morphology	55697	VAC14	ORPHA:3472
HP:0100871	Abnormal palm morphology	652	BMP4	OMIM:607932
HP:0100871	Abnormal palm morphology	5442	POLRMT	OMIM:619743
HP:0100871	Abnormal palm morphology	132158	GLYCTK	OMIM:220120
HP:0100871	Abnormal palm morphology	23036	ZNF292	OMIM:619188
HP:0100871	Abnormal palm morphology	55148	UBR7	OMIM:619189
HP:0100871	Abnormal palm morphology	4591	TRIM37	OMIM:253250
HP:0100871	Abnormal palm morphology	79813	EHMT1	OMIM:610253
HP:0100871	Abnormal palm morphology	55012	PPP2R3C	OMIM:618419
HP:0100871	Abnormal palm morphology	1954	MEGF8	OMIM:614976
HP:0100871	Abnormal palm morphology	2783	GNB2	OMIM:619503
HP:0100871	Abnormal palm morphology	53834	FGFRL1	OMIM:194190
HP:0100871	Abnormal palm morphology	1487	CTBP1	OMIM:194190
HP:0100871	Abnormal palm morphology	3954	LETM1	OMIM:194190
HP:0100871	Abnormal palm morphology	7468	NSD2	OMIM:194190
HP:0100871	Abnormal palm morphology	10815	CPLX1	OMIM:194190
HP:0100871	Abnormal palm morphology	26040	SETBP1	OMIM:269150
HP:0100871	Abnormal palm morphology	727857	BHLHA9	OMIM:609432
HP:0100871	Abnormal palm morphology	1802	DPH2	OMIM:620062
HP:0100871	Abnormal palm morphology	11285	B4GALT7	OMIM:130070
HP:0100871	Abnormal palm morphology	1186	CLCN7	OMIM:618541
HP:0100871	Abnormal palm morphology	55768	NGLY1	OMIM:615273
HP:0100871	Abnormal palm morphology	1349	COX7B	OMIM:309801
HP:0100871	Abnormal palm morphology	3052	HCCS	OMIM:309801
HP:0100871	Abnormal palm morphology	54539	NDUFB11	OMIM:309801
HP:0100871	Abnormal palm morphology	5190	PEX6	OMIM:614863
HP:0100871	Abnormal palm morphology	5828	PEX2	OMIM:614866
HP:0100871	Abnormal palm morphology	150468	CKAP2L	OMIM:272440
HP:0100871	Abnormal palm morphology	6134	RPL10	ORPHA:459070
HP:0100871	Abnormal palm morphology	6134	RPL10	OMIM:300998
HP:0100871	Abnormal palm morphology	6134	RPL10	ORPHA:435938
HP:0100871	Abnormal palm morphology	55165	CEP55	OMIM:236500
HP:0100871	Abnormal palm morphology	8085	KMT2D	OMIM:620186
HP:0100871	Abnormal palm morphology	23137	SMC5	OMIM:620185
HP:0100871	Abnormal palm morphology	27086	FOXP1	ORPHA:391372
HP:0100871	Abnormal palm morphology	388015	RTL1	ORPHA:96334
HP:0100871	Abnormal palm morphology	388015	RTL1	ORPHA:254528
HP:0100871	Abnormal palm morphology	8788	DLK1	ORPHA:96334
HP:0100871	Abnormal palm morphology	8788	DLK1	ORPHA:254528
HP:0100871	Abnormal palm morphology	55384	MEG3	ORPHA:96334
HP:0100871	Abnormal palm morphology	55384	MEG3	ORPHA:254528
HP:0100871	Abnormal palm morphology	6925	TCF4	OMIM:610954
HP:0100871	Abnormal palm morphology	6925	TCF4	ORPHA:2896
HP:0100871	Abnormal palm morphology	10430	TMEM147	OMIM:620075
HP:0100871	Abnormal palm morphology	23483	TGDS	OMIM:616145
HP:0100871	Abnormal palm morphology	25836	NIPBL	OMIM:122470
HP:0100871	Abnormal palm morphology	23219	FBXO28	OMIM:619777
HP:0100871	Abnormal palm morphology	2146	EZH2	OMIM:277590
HP:0100871	Abnormal palm morphology	2316	FLNA	ORPHA:1826
HP:0100871	Abnormal palm morphology	6885	MAP3K7	ORPHA:1826
HP:0100871	Abnormal palm morphology	51322	WAC	ORPHA:466950
HP:0100871	Abnormal palm morphology	6595	SMARCA2	OMIM:601358
HP:0100871	Abnormal palm morphology	29123	ANKRD11	OMIM:148050
HP:0100871	Abnormal palm morphology	29123	ANKRD11	ORPHA:2332
HP:0100871	Abnormal palm morphology	2702	GJA5	OMIM:612474
HP:0100871	Abnormal palm morphology	2703	GJA8	OMIM:612474
HP:0100871	Abnormal palm morphology	4208	MEF2C	OMIM:613443
HP:0100871	Abnormal palm morphology	55690	PACS1	ORPHA:329224
HP:0100871	Abnormal palm morphology	6878	TAF6	OMIM:617126
HP:0100871	Abnormal palm morphology	22907	DHX30	OMIM:617804
HP:0100871	Abnormal palm morphology	2245	FGD1	ORPHA:915
HP:0100871	Abnormal palm morphology	2245	FGD1	OMIM:305400
HP:0100871	Abnormal palm morphology	10664	CTCF	OMIM:615502
HP:0100871	Abnormal palm morphology	10664	CTCF	ORPHA:363611
HP:0100871	Abnormal palm morphology	81603	TRIM8	OMIM:619428
HP:0100871	Abnormal palm morphology	9230	RAB11B	OMIM:617807
HP:0100871	Abnormal palm morphology	55081	IFT57	OMIM:617927
HP:0100871	Abnormal palm morphology	3720	JARID2	OMIM:620098
HP:0100871	Abnormal palm morphology	3479	IGF1	ORPHA:73272
HP:0100871	Abnormal palm morphology	5193	PEX12	OMIM:266510
HP:0100871	Abnormal palm morphology	100151683	RNU4ATAC	OMIM:210710
HP:0100871	Abnormal palm morphology	100151683	RNU4ATAC	OMIM:616651
HP:0100871	Abnormal palm morphology	1798	DPAGT1	OMIM:608093
HP:0100871	Abnormal palm morphology	57122	NUP107	OMIM:618348
HP:0100871	Abnormal palm morphology	6418	SET	OMIM:618106
HP:0100871	Abnormal palm morphology	5515	PPP2CA	OMIM:618354
HP:0100871	Abnormal palm morphology	2623	GATA1	OMIM:190685
HP:0100871	Abnormal palm morphology	23030	KDM4B	OMIM:619320
HP:0100871	Abnormal palm morphology	2902	GRIN1	OMIM:617820
HP:0100871	Abnormal palm morphology	55784	MCTP2	ORPHA:1596
HP:0100871	Abnormal palm morphology	23097	CDK19	OMIM:618916
HP:0100871	Abnormal palm morphology	9126	SMC3	OMIM:610759
HP:0100871	Abnormal palm morphology	4131	MAP1B	OMIM:618918
HP:0100871	Abnormal palm morphology	5530	PPP3CA	OMIM:617711
HP:0100871	Abnormal palm morphology	80746	TSEN2	OMIM:612389
HP:0100871	Abnormal palm morphology	64131	XYLT1	OMIM:615777
HP:0100871	Abnormal palm morphology	9361	LONP1	ORPHA:79243
HP:0100871	Abnormal palm morphology	5160	PDHA1	ORPHA:79243
HP:0100871	Abnormal palm morphology	55764	IFT122	OMIM:218330
HP:0100871	Abnormal palm morphology	8604	SLC25A12	OMIM:612949
HP:0100871	Abnormal palm morphology	9241	NOG	OMIM:186500
HP:0100871	Abnormal palm morphology	22827	PUF60	ORPHA:508488
HP:0100871	Abnormal palm morphology	10943	MSL3	OMIM:301032
HP:0100871	Abnormal palm morphology	3977	LIFR	OMIM:601559
HP:0100871	Abnormal palm morphology	545	ATR	OMIM:210600
HP:0100871	Abnormal palm morphology	57187	THOC2	ORPHA:457240
HP:0100871	Abnormal palm morphology	57572	DOCK6	OMIM:614219
HP:0100871	Abnormal palm morphology	94005	PIGS	OMIM:618143
HP:0100871	Abnormal palm morphology	145173	B3GLCT	OMIM:261540
HP:0100871	Abnormal palm morphology	6711	SPTBN1	OMIM:619475
HP:0100871	Abnormal palm morphology	1387	CREBBP	OMIM:180849
HP:0100871	Abnormal palm morphology	2033	EP300	OMIM:180849
HP:0100871	Abnormal palm morphology	6938	TCF12	OMIM:615314
HP:0100871	Abnormal palm morphology	92002	CCNQ	OMIM:300707
HP:0100871	Abnormal palm morphology	91461	PKDCC	OMIM:618821
HP:0100871	Abnormal palm morphology	4329	ALDH6A1	OMIM:614105
HP:0100871	Abnormal palm morphology	1457	CSNK2A1	OMIM:617062
HP:0100871	Abnormal palm morphology	7204	TRIO	OMIM:617061
HP:0100871	Abnormal palm morphology	55617	TASP1	OMIM:618950
HP:0100871	Abnormal palm morphology	51305	KCNK9	OMIM:612292
HP:0100871	Abnormal palm morphology	83737	ITCH	OMIM:613385
HP:0100871	Abnormal palm morphology	112752	IFT43	OMIM:617866
HP:0100871	Abnormal palm morphology	9702	CEP57	OMIM:614114
HP:0100871	Abnormal palm morphology	9373	PLAA	ORPHA:521426
HP:0100871	Abnormal palm morphology	9373	PLAA	OMIM:617527
HP:0100871	Abnormal palm morphology	64093	SMOC1	OMIM:206920
HP:0100871	Abnormal palm morphology	7169	TPM2	OMIM:108120
HP:0100871	Abnormal palm morphology	403	ARL3	OMIM:618161
HP:0100871	Abnormal palm morphology	8200	GDF5	OMIM:201250
HP:0100871	Abnormal palm morphology	1748	DLX4	OMIM:616788
HP:0100871	Abnormal palm morphology	1663	DDX11	OMIM:613398
HP:0100871	Abnormal palm morphology	2733	GLE1	OMIM:611890
HP:0100871	Abnormal palm morphology	738	VPS51	OMIM:618606
HP:0100871	Abnormal palm morphology	51594	NBAS	OMIM:614800
HP:0100871	Abnormal palm morphology	23299	BICD2	OMIM:618291
HP:0100871	Abnormal palm morphology	58499	ZNF462	OMIM:618619
HP:0100871	Abnormal palm morphology	7051	TGM1	OMIM:242300
HP:0100871	Abnormal palm morphology	7051	TGM1	ORPHA:100976
HP:0100871	Abnormal palm morphology	3858	KRT10	OMIM:607602
HP:0100871	Abnormal palm morphology	3858	KRT10	OMIM:609165
HP:0100871	Abnormal palm morphology	121214	SDR9C7	OMIM:617574
HP:0100871	Abnormal palm morphology	55651	NHP2	OMIM:224230
HP:0100871	Abnormal palm morphology	55505	NOP10	OMIM:224230
HP:0100871	Abnormal palm morphology	1075	CTSC	OMIM:170650
HP:0100871	Abnormal palm morphology	1075	CTSC	OMIM:245000
HP:0100871	Abnormal palm morphology	1075	CTSC	ORPHA:678
HP:0100871	Abnormal palm morphology	8710	SERPINB7	OMIM:615598
HP:0100871	Abnormal palm morphology	121391	KRT74	OMIM:194300
HP:0100871	Abnormal palm morphology	3248	HPGD	OMIM:259100
HP:0100871	Abnormal palm morphology	7373	COL14A1	ORPHA:79501
HP:0100871	Abnormal palm morphology	79719	AAGAB	ORPHA:79501
HP:0100871	Abnormal palm morphology	10804	GJB6	ORPHA:189
HP:0100871	Abnormal palm morphology	10804	GJB6	OMIM:129500
HP:0100871	Abnormal palm morphology	5728	PTEN	OMIM:158350
HP:0100871	Abnormal palm morphology	57511	COG6	ORPHA:363523
HP:0100871	Abnormal palm morphology	57511	COG6	OMIM:615328
HP:0100871	Abnormal palm morphology	5159	PDGFRB	OMIM:601812
HP:0100871	Abnormal palm morphology	22861	NLRP1	OMIM:617388
HP:0100871	Abnormal palm morphology	51360	MBTPS2	OMIM:300918
HP:0100871	Abnormal palm morphology	64065	PERP	OMIM:619209
HP:0100871	Abnormal palm morphology	64065	PERP	OMIM:619208
HP:0100871	Abnormal palm morphology	55612	FERMT1	OMIM:173650
HP:0100871	Abnormal palm morphology	7015	TERT	OMIM:613989
HP:0100871	Abnormal palm morphology	3889	KRT83	OMIM:617756
HP:0100871	Abnormal palm morphology	9487	PIGL	OMIM:280000
HP:0100871	Abnormal palm morphology	8086	AAAS	OMIM:231550
HP:0100871	Abnormal palm morphology	7286	TUFT1	OMIM:607655
HP:0100871	Abnormal palm morphology	5290	PIK3CA	OMIM:615108
HP:0100871	Abnormal palm morphology	207	AKT1	OMIM:615109
HP:0100871	Abnormal palm morphology	667	DST	OMIM:615425
HP:0100871	Abnormal palm morphology	9015	TAF1A	ORPHA:154
HP:0100871	Abnormal palm morphology	5663	PSEN1	ORPHA:154
HP:0100871	Abnormal palm morphology	6389	SDHA	ORPHA:154
HP:0100871	Abnormal palm morphology	7112	TMPO	ORPHA:154
HP:0100871	Abnormal palm morphology	9464	HAND2	ORPHA:154
HP:0100871	Abnormal palm morphology	4625	MYH7	ORPHA:154
HP:0100871	Abnormal palm morphology	88	ACTN2	ORPHA:154
HP:0100871	Abnormal palm morphology	10486	CAP2	ORPHA:154
HP:0100871	Abnormal palm morphology	10060	ABCC9	ORPHA:154
HP:0100871	Abnormal palm morphology	7168	TPM1	ORPHA:154
HP:0100871	Abnormal palm morphology	7414	VCL	ORPHA:154
HP:0100871	Abnormal palm morphology	70	ACTC1	ORPHA:154
HP:0100871	Abnormal palm morphology	27063	ANKRD1	ORPHA:154
HP:0100871	Abnormal palm morphology	8048	CSRP3	ORPHA:154
HP:0100871	Abnormal palm morphology	1410	CRYAB	ORPHA:154
HP:0100871	Abnormal palm morphology	7139	TNNT2	ORPHA:154
HP:0100871	Abnormal palm morphology	1829	DSG2	ORPHA:154
HP:0100871	Abnormal palm morphology	3910	LAMA4	ORPHA:154
HP:0100871	Abnormal palm morphology	63976	PRDM16	ORPHA:154
HP:0100871	Abnormal palm morphology	7273	TTN	ORPHA:154
HP:0100871	Abnormal palm morphology	10587	TXNRD2	ORPHA:154
HP:0100871	Abnormal palm morphology	9531	BAG3	ORPHA:154
HP:0100871	Abnormal palm morphology	5350	PLN	ORPHA:154
HP:0100871	Abnormal palm morphology	91624	NEXN	ORPHA:154
HP:0100871	Abnormal palm morphology	79717	PPCS	ORPHA:154
HP:0100871	Abnormal palm morphology	5664	PSEN2	ORPHA:154
HP:0100871	Abnormal palm morphology	4624	MYH6	ORPHA:154
HP:0100871	Abnormal palm morphology	9529	BAG5	ORPHA:154
HP:0100871	Abnormal palm morphology	4607	MYBPC3	ORPHA:154
HP:0100871	Abnormal palm morphology	282996	RBM20	ORPHA:154
HP:0100871	Abnormal palm morphology	7137	TNNI3	ORPHA:154
HP:0100871	Abnormal palm morphology	11155	LDB3	ORPHA:154
HP:0100871	Abnormal palm morphology	2274	FHL2	ORPHA:154
HP:0100871	Abnormal palm morphology	6901	TAFAZZIN	ORPHA:154
HP:0100871	Abnormal palm morphology	22845	DOLK	ORPHA:154
HP:0100871	Abnormal palm morphology	5894	RAF1	ORPHA:154
HP:0100871	Abnormal palm morphology	1756	DMD	ORPHA:154
HP:0100871	Abnormal palm morphology	57798	GATAD1	ORPHA:154
HP:0100871	Abnormal palm morphology	7134	TNNC1	ORPHA:154
HP:0100871	Abnormal palm morphology	84665	MYPN	ORPHA:154
HP:0100871	Abnormal palm morphology	1674	DES	ORPHA:154
HP:0100871	Abnormal palm morphology	6444	SGCD	ORPHA:154
HP:0100871	Abnormal palm morphology	6331	SCN5A	ORPHA:154
HP:0100871	Abnormal palm morphology	2218	FKTN	ORPHA:154
HP:0100871	Abnormal palm morphology	8557	TCAP	ORPHA:154
HP:0100871	Abnormal palm morphology	79092	CARD14	OMIM:173200
HP:0100871	Abnormal palm morphology	79092	CARD14	ORPHA:2897
HP:0100871	Abnormal palm morphology	79650	USB1	OMIM:604173
HP:0100871	Abnormal palm morphology	79650	USB1	ORPHA:1775
HP:0100871	Abnormal palm morphology	1308	COL17A1	ORPHA:79406
HP:0100871	Abnormal palm morphology	1308	COL17A1	ORPHA:79402
HP:0100871	Abnormal palm morphology	4312	MMP1	ORPHA:79408
HP:0100871	Abnormal palm morphology	162	AP1B1	OMIM:242150
HP:0100871	Abnormal palm morphology	4574	MT-TS1	ORPHA:2202
HP:0100871	Abnormal palm morphology	1824	DSC2	OMIM:610476
HP:0100871	Abnormal palm morphology	8626	TP63	OMIM:106260
HP:0100871	Abnormal palm morphology	8626	TP63	OMIM:129400
HP:0100871	Abnormal palm morphology	3849	KRT2	ORPHA:455
HP:0100871	Abnormal palm morphology	6578	SLCO2A1	ORPHA:2796
HP:0100871	Abnormal palm morphology	3909	LAMA3	ORPHA:79402
HP:0100871	Abnormal palm morphology	3918	LAMC2	ORPHA:79402
HP:0100871	Abnormal palm morphology	3691	ITGB4	ORPHA:79402
HP:0100871	Abnormal palm morphology	26154	ABCA12	OMIM:601277
HP:0100871	Abnormal palm morphology	26154	ABCA12	ORPHA:79394
HP:0100871	Abnormal palm morphology	6898	TAT	ORPHA:28378
HP:0100871	Abnormal palm morphology	10483	SEC23B	ORPHA:201
HP:0100871	Abnormal palm morphology	6390	SDHB	ORPHA:201
HP:0100871	Abnormal palm morphology	6392	SDHD	ORPHA:201
HP:0100871	Abnormal palm morphology	6391	SDHC	ORPHA:201
HP:0100871	Abnormal palm morphology	205717	USF3	ORPHA:201
HP:0100871	Abnormal palm morphology	100144748	KLLN	ORPHA:201
HP:0100871	Abnormal palm morphology	285848	PNPLA1	OMIM:615024
HP:0100871	Abnormal palm morphology	285848	PNPLA1	ORPHA:79394
HP:0100871	Abnormal palm morphology	23328	SASH1	OMIM:618373
HP:0100871	Abnormal palm morphology	1474	CST6	OMIM:618535
HP:0100871	Abnormal palm morphology	54795	TRPM4	ORPHA:316
HP:0100871	Abnormal palm morphology	348938	NIPAL4	OMIM:612281
HP:0100871	Abnormal palm morphology	348938	NIPAL4	ORPHA:79394
HP:0100871	Abnormal palm morphology	29926	GMPPA	ORPHA:869
HP:0100871	Abnormal palm morphology	60684	TRAPPC11	ORPHA:869
HP:0100871	Abnormal palm morphology	25959	KANK2	OMIM:616099
HP:0100871	Abnormal palm morphology	57192	MCOLN1	ORPHA:578
HP:0100871	Abnormal palm morphology	1493	CTLA4	ORPHA:3162
HP:0100871	Abnormal palm morphology	940	CD28	ORPHA:3162
HP:0100871	Abnormal palm morphology	7133	TNFRSF1B	ORPHA:3162
HP:0100871	Abnormal palm morphology	79977	GRHL2	OMIM:616029
HP:0100871	Abnormal palm morphology	286887	KRT6C	OMIM:615735
HP:0100871	Abnormal palm morphology	23592	LEMD3	ORPHA:1306
HP:0100871	Abnormal palm morphology	79644	SRD5A3	ORPHA:324737
HP:0100871	Abnormal palm morphology	80169	CTC1	ORPHA:1775
HP:0100871	Abnormal palm morphology	26277	TINF2	ORPHA:1775
HP:0100871	Abnormal palm morphology	55135	WRAP53	ORPHA:1775
HP:0100871	Abnormal palm morphology	51750	RTEL1	ORPHA:1775
HP:0100871	Abnormal palm morphology	4869	NPM1	ORPHA:1775
HP:0100871	Abnormal palm morphology	7012	TERC	ORPHA:1775
HP:0100871	Abnormal palm morphology	5073	PARN	ORPHA:1775
HP:0100871	Abnormal palm morphology	1736	DKC1	ORPHA:1775
HP:0100871	Abnormal palm morphology	7298	TYMS	OMIM:620040
HP:0100871	Abnormal palm morphology	55636	CHD7	OMIM:214800
HP:0100871	Abnormal palm morphology	8260	NAA10	OMIM:309800
HP:0100871	Abnormal palm morphology	64840	PORCN	ORPHA:2092
HP:0100871	Abnormal palm morphology	54808	DYM	OMIM:223800
HP:0100871	Abnormal palm morphology	1280	COL2A1	OMIM:271700
HP:0100871	Abnormal palm morphology	3930	LBR	OMIM:215140
HP:0100871	Abnormal palm morphology	4921	DDR2	OMIM:271665
HP:0100871	Abnormal palm morphology	3549	IHH	OMIM:112500
HP:0100871	Abnormal palm morphology	9131	AIFM1	OMIM:300232
HP:0100871	Abnormal palm morphology	10743	RAI1	OMIM:182290
HP:0100871	Abnormal palm morphology	23135	KDM6B	OMIM:618505
HP:0100871	Abnormal palm morphology	54880	BCOR	ORPHA:2712
HP:0100871	Abnormal palm morphology	1778	DYNC1H1	OMIM:614563
HP:0100871	Abnormal palm morphology	2260	FGFR1	OMIM:166250
HP:0100871	Abnormal palm morphology	4796	TONSL	ORPHA:93357
HP:0100871	Abnormal palm morphology	5745	PTH1R	ORPHA:79106
HP:0100871	Abnormal palm morphology	2200	FBN1	OMIM:608328
HP:0100871	Abnormal palm morphology	5277	PIGA	OMIM:300868
HP:0100871	Abnormal palm morphology	57560	IFT80	OMIM:611263
HP:0100871	Abnormal palm morphology	2719	GPC3	OMIM:312870
HP:0100871	Abnormal palm morphology	2239	GPC4	OMIM:312870
HP:0100871	Abnormal palm morphology	5573	PRKAR1A	OMIM:101800
HP:0100871	Abnormal palm morphology	2799	GNS	OMIM:252940
HP:0100871	Abnormal palm morphology	2273	FHL1	OMIM:300280
HP:0100871	Abnormal palm morphology	55343	SLC35C1	ORPHA:99843
HP:0100871	Abnormal palm morphology	81794	ADAMTS10	OMIM:277600
HP:0100871	Abnormal palm morphology	3480	IGF1R	ORPHA:73273
HP:0100871	Abnormal palm morphology	22856	CHSY1	ORPHA:363417
HP:0100871	Abnormal palm morphology	2879	GPX4	ORPHA:93317
HP:0100871	Abnormal palm morphology	124997	WDR81	OMIM:610185
HP:0100871	Abnormal palm morphology	118429	ANTXR2	ORPHA:2176
HP:0100871	Abnormal palm morphology	55777	MBD5	ORPHA:228402
HP:0100871	Abnormal palm morphology	55777	MBD5	OMIM:156200
HP:0100871	Abnormal palm morphology	9401	RECQL4	OMIM:268400
HP:0100871	Abnormal palm morphology	1302	COL11A2	OMIM:215150
HP:0100871	Abnormal palm morphology	55112	DYNC2I1	ORPHA:93271
HP:0100871	Abnormal palm morphology	57539	WDR35	ORPHA:93271
HP:0100871	Abnormal palm morphology	79659	DYNC2H1	ORPHA:93271
HP:0100871	Abnormal palm morphology	89891	DYNC2I2	ORPHA:93271
HP:0100871	Abnormal palm morphology	613	BCR	ORPHA:261330
HP:0100871	Abnormal palm morphology	1399	CRKL	ORPHA:261330
HP:0100871	Abnormal palm morphology	5594	MAPK1	ORPHA:261330
HP:0100871	Abnormal palm morphology	79639	TMEM53	OMIM:619727
HP:0100871	Abnormal palm morphology	55249	YY1AP1	ORPHA:79094
HP:0100871	Abnormal palm morphology	10982	MAPRE2	OMIM:616734
HP:0100871	Abnormal palm morphology	25782	RAB3GAP2	OMIM:212720
HP:0100871	Abnormal palm morphology	6023	RMRP	ORPHA:175
HP:0100871	Abnormal palm morphology	6023	RMRP	OMIM:607095
HP:0100871	Abnormal palm morphology	6023	RMRP	OMIM:250250
HP:0100871	Abnormal palm morphology	818	CAMK2G	OMIM:618522
HP:0100871	Abnormal palm morphology	4998	ORC1	OMIM:224690
HP:0100871	Abnormal palm morphology	4054	LTBP3	ORPHA:969
HP:0100871	Abnormal palm morphology	3759	KCNJ2	OMIM:170390
HP:0100871	Abnormal palm morphology	222663	SCUBE3	OMIM:619184
HP:0100871	Abnormal palm morphology	80311	KLHL15	OMIM:300982
HP:0100871	Abnormal palm morphology	633	BGN	OMIM:300106
HP:0100871	Abnormal palm morphology	1301	COL11A1	OMIM:228520
HP:0100871	Abnormal palm morphology	25942	SIN3A	OMIM:613406
HP:0100871	Abnormal palm morphology	64374	SIL1	ORPHA:559
HP:0100871	Abnormal palm morphology	51763	INPP5K	ORPHA:559
HP:0100871	Abnormal palm morphology	9244	CRLF1	OMIM:272430
HP:0100871	Abnormal palm morphology	4000	LMNA	ORPHA:79474
HP:0100871	Abnormal palm morphology	9321	TRIP11	ORPHA:166272
HP:0100871	Abnormal palm morphology	9321	TRIP11	ORPHA:93299
HP:0100871	Abnormal palm morphology	538	ATP7A	ORPHA:198
HP:0100871	Abnormal palm morphology	6905	TBCE	OMIM:241410
HP:0100871	Abnormal palm morphology	6905	TBCE	OMIM:244460
HP:0100871	Abnormal palm morphology	1857	DVL3	ORPHA:3107
HP:0100871	Abnormal palm morphology	7474	WNT5A	ORPHA:3107
HP:0100871	Abnormal palm morphology	7474	WNT5A	OMIM:180700
HP:0100871	Abnormal palm morphology	1855	DVL1	ORPHA:3107
HP:0100871	Abnormal palm morphology	1855	DVL1	OMIM:180700
HP:0100871	Abnormal palm morphology	2535	FZD2	ORPHA:3107
HP:0100871	Abnormal palm morphology	2535	FZD2	ORPHA:93328
HP:0100871	Abnormal palm morphology	9791	PTDSS1	ORPHA:2658
HP:0100871	Abnormal palm morphology	2121	EVC	OMIM:193530
HP:0100871	Abnormal palm morphology	132884	EVC2	OMIM:193530
HP:0100871	Abnormal palm morphology	10013	HDAC6	ORPHA:163966
HP:0100871	Abnormal palm morphology	79753	SNIP1	OMIM:614501
HP:0100871	Abnormal palm morphology	9719	ADAMTSL2	OMIM:231050
HP:0100871	Abnormal palm morphology	10236	HNRNPR	OMIM:620073
HP:0100871	Abnormal palm morphology	1298	COL9A2	OMIM:600204
HP:0100871	Abnormal palm morphology	3636	INPPL1	OMIM:258480
HP:0100871	Abnormal palm morphology	285590	SH3PXD2B	OMIM:249420
HP:0100871	Abnormal palm morphology	28957	MRPS28	OMIM:618958
HP:0100871	Abnormal palm morphology	23261	CAMTA1	OMIM:614756
HP:0100871	Abnormal palm morphology	8450	CUL4B	ORPHA:85293
HP:0100871	Abnormal palm morphology	25839	COG4	ORPHA:85172
HP:0100871	Abnormal palm morphology	5295	PIK3R1	ORPHA:3163
HP:0100871	Abnormal palm morphology	8813	DPM1	OMIM:608799
HP:0100871	Abnormal palm morphology	8242	KDM5C	ORPHA:85279
HP:0100871	Abnormal palm morphology	89970	RSPRY1	ORPHA:457395
HP:0100871	Abnormal palm morphology	3516	RBPJ	OMIM:614814
HP:0100871	Abnormal palm morphology	4089	SMAD4	ORPHA:2588
HP:0100871	Abnormal palm morphology	6638	SNRPN	ORPHA:177910
HP:0100871	Abnormal palm morphology	4692	NDN	ORPHA:177910
HP:0100871	Abnormal palm morphology	54551	MAGEL2	ORPHA:177910
HP:0100871	Abnormal palm morphology	54551	MAGEL2	OMIM:615547
HP:0100871	Abnormal palm morphology	54551	MAGEL2	OMIM:176270
HP:0100871	Abnormal palm morphology	157680	VPS13B	ORPHA:193
HP:0100871	Abnormal palm morphology	157680	VPS13B	OMIM:216550
HP:0100871	Abnormal palm morphology	26053	AUTS2	ORPHA:352490
HP:0100871	Abnormal palm morphology	56896	DPYSL5	OMIM:619435
HP:0100871	Abnormal palm morphology	89910	UBE3B	OMIM:244450
HP:0100871	Abnormal palm morphology	2782	GNB1	OMIM:616973
HP:0100871	Abnormal palm morphology	6611	SMS	OMIM:309583
HP:0100871	Abnormal palm morphology	284058	KANSL1	OMIM:610443
HP:0100871	Abnormal palm morphology	9757	KMT2B	OMIM:619934
HP:0100871	Abnormal palm morphology	7681	MKRN3	OMIM:176270
HP:0100871	Abnormal palm morphology	3653	IPW	OMIM:176270
HP:0100871	Abnormal palm morphology	791114	PWRN1	OMIM:176270
HP:0100871	Abnormal palm morphology	100033413	SNORD116-1	OMIM:176270
HP:0100871	Abnormal palm morphology	8924	HERC2	OMIM:176270
HP:0100871	Abnormal palm morphology	145624	PWAR1	OMIM:176270
HP:0100871	Abnormal palm morphology	23742	NPAP1	OMIM:176270
HP:0100871	Abnormal palm morphology	338433	SNORD115-1	OMIM:176270
HP:0100871	Abnormal palm morphology	162514	TRPV3	OMIM:616400
HP:0100871	Abnormal palm morphology	1832	DSP	ORPHA:65282
HP:0100871	Abnormal palm morphology	2697	GJA1	ORPHA:317
HP:0100871	Abnormal palm morphology	2707	GJB3	ORPHA:317
HP:0100871	Abnormal palm morphology	2707	GJB3	OMIM:133200
HP:0100871	Abnormal palm morphology	2531	KDSR	ORPHA:317
HP:0100871	Abnormal palm morphology	127534	GJB4	ORPHA:317
HP:0100871	Abnormal palm morphology	3914	LAMB3	OMIM:226650
HP:0100871	Abnormal palm morphology	113189	CHST14	ORPHA:2953
HP:0100871	Abnormal palm morphology	29940	DSE	ORPHA:2953
HP:0100871	Abnormal palm morphology	8985	PLOD3	OMIM:612394
HP:0100871	Abnormal palm morphology	55252	ASXL2	OMIM:617190
HP:0100871	Abnormal palm morphology	8036	SHOC2	OMIM:607721
HP:0100871	Abnormal palm morphology	65082	VPS33A	ORPHA:505248
HP:0100871	Abnormal palm morphology	3190	HNRNPK	OMIM:616580
HP:0100871	Abnormal palm morphology	4052	LTBP1	OMIM:619451
HP:0100871	Abnormal palm morphology	8558	CDK10	OMIM:617694
HP:0100871	Abnormal palm morphology	57479	PRR12	OMIM:619539
HP:0100871	Abnormal palm morphology	29957	SLC25A24	OMIM:612289
HP:0100871	Abnormal palm morphology	673	BRAF	OMIM:115150
HP:0100871	Abnormal palm morphology	673	BRAF	ORPHA:1340
HP:0100871	Abnormal palm morphology	673	BRAF	OMIM:613706
HP:0100871	Abnormal palm morphology	5604	MAP2K1	ORPHA:1340
HP:0100871	Abnormal palm morphology	5605	MAP2K2	ORPHA:1340
HP:0100871	Abnormal palm morphology	3845	KRAS	ORPHA:1340
HP:0100871	Abnormal palm morphology	83550	GPR101	ORPHA:963
HP:0100871	Abnormal palm morphology	9049	AIP	ORPHA:963
HP:0100871	Abnormal palm morphology	23384	SPECC1L	OMIM:600251
HP:0100871	Abnormal palm morphology	55593	OTUD5	OMIM:301056
HP:0100871	Abnormal palm morphology	283209	PGM2L1	OMIM:620191
HP:0100871	Abnormal palm morphology	79718	TBL1XR1	OMIM:602342
HP:0100871	Abnormal palm morphology	79718	TBL1XR1	ORPHA:487825
HP:0100871	Abnormal palm morphology	171023	ASXL1	OMIM:605039
HP:0100871	Abnormal palm morphology	10651	MTX2	OMIM:619127
HP:0100871	Abnormal palm morphology	80816	ASXL3	OMIM:615485
HP:0100871	Abnormal palm morphology	1806	DPYD	ORPHA:1675
HP:0100871	Abnormal palm morphology	2475	MTOR	OMIM:616638
HP:0100871	Abnormal palm morphology	200734	SPRED2	OMIM:619745
HP:0100871	Abnormal palm morphology	526	ATP6V1B2	ORPHA:3473
HP:0100871	Abnormal palm morphology	3756	KCNH1	ORPHA:3473
HP:0100871	Abnormal palm morphology	3782	KCNN3	ORPHA:3473
HP:0100871	Abnormal palm morphology	3265	HRAS	OMIM:218040
HP:0100871	Abnormal palm morphology	8241	RBM10	OMIM:311900
HP:0100871	Abnormal palm morphology	1080	CFTR	ORPHA:498359
HP:0100871	Abnormal palm morphology	1508	CTSB	OMIM:148370
HP:0100871	Abnormal palm morphology	284654	RSPO1	OMIM:610644
HP:0100871	Abnormal palm morphology	1041	CDSN	OMIM:270300
HP:0100871	Abnormal palm morphology	5317	PKP1	OMIM:604536
HP:0100871	Abnormal palm morphology	1294	COL7A1	ORPHA:79409
HP:0100871	Abnormal palm morphology	1294	COL7A1	ORPHA:79410
HP:0100871	Abnormal palm morphology	5339	PLEC	ORPHA:79401
HP:0100871	Abnormal palm morphology	1828	DSG1	OMIM:148700
HP:0100871	Abnormal palm morphology	362	AQP5	OMIM:600231
HP:0100871	Abnormal palm morphology	362	AQP5	ORPHA:2337
HP:0100871	Abnormal palm morphology	3728	JUP	OMIM:601214
HP:0100871	Abnormal palm morphology	57152	SLURP1	ORPHA:86923
HP:0100871	Abnormal palm morphology	145264	SERPINA12	ORPHA:86923
HP:0100871	Abnormal palm morphology	54800	KLHL24	OMIM:617294
HP:0100871	Abnormal palm morphology	9342	SNAP29	ORPHA:66631
HP:0100871	Abnormal palm morphology	79651	RHBDF2	OMIM:148500
HP:0100871	Abnormal palm morphology	4014	LORICRIN	OMIM:604117
HP:0100871	Abnormal palm morphology	4014	LORICRIN	ORPHA:79395
HP:0100871	Abnormal palm morphology	2706	GJB2	OMIM:124500
HP:0100871	Abnormal palm morphology	2706	GJB2	ORPHA:494
HP:0100871	Abnormal palm morphology	51371	POMP	OMIM:601952
HP:0100871	Abnormal palm morphology	715	C1R	OMIM:130080
HP:0100871	Abnormal palm morphology	2261	FGFR3	OMIM:616482
HP:0100871	Abnormal palm morphology	22808	MRAS	OMIM:618499
HP:0100871	Abnormal palm morphology	5351	PLOD1	OMIM:225400
HP:0100871	Abnormal palm morphology	8216	LZTR1	OMIM:616564
HP:0100871	Abnormal palm morphology	8216	LZTR1	OMIM:605275
HP:0100871	Abnormal palm morphology	84627	ZNF469	OMIM:229200
HP:0100871	Abnormal palm morphology	6016	RIT1	OMIM:615355
HP:0100871	Abnormal palm morphology	2263	FGFR2	OMIM:123790
HP:0100871	Abnormal palm morphology	23545	ATP6V0A2	OMIM:278250
HP:0100871	Abnormal palm morphology	5167	ENPP1	OMIM:615522
HP:0100871	Abnormal palm morphology	831	CAST	OMIM:616295
HP:0100871	Abnormal palm morphology	26276	VPS33B	OMIM:620009
HP:0100871	Abnormal palm morphology	7291	TWIST1	ORPHA:794
HP:0100871	Abnormal palm morphology	23476	BRD4	ORPHA:199
HP:0100871	Abnormal palm morphology	8243	SMC1A	ORPHA:199
HP:0100871	Abnormal palm morphology	55869	HDAC8	ORPHA:199
HP:0100871	Abnormal palm morphology	5792	PTPRF	OMIM:616001
HP:0100871	Abnormal palm morphology	10908	PNPLA6	ORPHA:2377
HP:0100871	Abnormal palm morphology	9894	TELO2	ORPHA:488642
HP:0100871	Abnormal palm morphology	9759	HDAC4	ORPHA:1001
HP:0100871	Abnormal palm morphology	157570	ESCO2	ORPHA:3103
HP:0100871	Abnormal palm morphology	5184	PEPD	ORPHA:742
HP:0100871	Abnormal palm morphology	2131	EXT1	ORPHA:502
HP:0100871	Abnormal palm morphology	7227	TRPS1	ORPHA:502
HP:0100871	Abnormal palm morphology	283989	TSEN54	ORPHA:2524
HP:0100871	Abnormal palm morphology	116461	TSEN15	ORPHA:2524
HP:0100871	Abnormal palm morphology	79042	TSEN34	ORPHA:2524
HP:0100871	Abnormal palm morphology	51091	SEPSECS	ORPHA:2524
HP:0100871	Abnormal palm morphology	129563	DIS3L2	ORPHA:2849
HP:0100871	Abnormal palm morphology	5818	NECTIN1	ORPHA:3253
HP:0100871	Abnormal palm morphology	55670	PEX26	ORPHA:44
HP:0100871	Abnormal palm morphology	5824	PEX19	ORPHA:44
HP:0100871	Abnormal palm morphology	8504	PEX3	ORPHA:44
HP:0100871	Abnormal palm morphology	9409	PEX16	ORPHA:44
HP:0100871	Abnormal palm morphology	8799	PEX11B	ORPHA:44
HP:0100871	Abnormal palm morphology	5194	PEX13	ORPHA:44
HP:0100871	Abnormal palm morphology	5195	PEX14	ORPHA:44
HP:0100871	Abnormal palm morphology	5192	PEX10	ORPHA:44
HP:0100871	Abnormal palm morphology	9469	CHST3	OMIM:143095
HP:0100871	Abnormal palm morphology	7140	TNNT3	ORPHA:1147
HP:0100871	Abnormal palm morphology	7136	TNNI2	ORPHA:1147
HP:0100871	Abnormal palm morphology	23511	NUP188	OMIM:618804
HP:0100871	Abnormal palm morphology	658	BMPR1B	ORPHA:2639
HP:0100871	Abnormal palm morphology	4087	SMAD2	OMIM:619657
HP:0100871	Abnormal palm morphology	64359	NXN	ORPHA:1507
HP:0100871	Abnormal palm morphology	4920	ROR2	ORPHA:1507
HP:0100871	Abnormal palm morphology	10225	CD96	ORPHA:1308
HP:0100871	Abnormal palm morphology	23522	KAT6B	ORPHA:3047
HP:0100871	Abnormal palm morphology	147372	CCBE1	OMIM:235510
HP:0100871	Abnormal palm morphology	9496	TBX4	ORPHA:261279
HP:0100871	Abnormal palm morphology	1801	DPH1	ORPHA:459061
HP:0100871	Abnormal palm morphology	2254	FGF9	ORPHA:3237
HP:0100871	Abnormal palm morphology	9333	TGM5	ORPHA:263534
HP:0100871	Abnormal palm morphology	1475	CSTA	ORPHA:263534
HP:0100871	Abnormal palm morphology	4927	NUP88	ORPHA:994
HP:0100871	Abnormal palm morphology	7846	TUBA1A	ORPHA:994
HP:0100871	Abnormal palm morphology	4654	MYOD1	ORPHA:994
HP:0100871	Abnormal palm morphology	4593	MUSK	ORPHA:994
HP:0100871	Abnormal palm morphology	5913	RAPSN	ORPHA:994
HP:0100871	Abnormal palm morphology	6572	SLC18A3	ORPHA:994
HP:0100871	Abnormal palm morphology	285489	DOK7	ORPHA:994
HP:0100871	Abnormal palm morphology	91252	SLC39A13	ORPHA:157965
HP:0100871	Abnormal palm morphology	63895	PIEZO2	ORPHA:1154
HP:0100871	Abnormal palm morphology	4621	MYH3	ORPHA:2053
HP:0100871	Abnormal palm morphology	259232	NALCN	ORPHA:2053
HP:0100871	Abnormal palm morphology	54101	RIPK4	OMIM:263650
HP:0100871	Abnormal palm morphology	92949	ADAMTSL1	ORPHA:521445
HP:0100871	Abnormal palm morphology	22884	WDR37	OMIM:618652
HP:0100871	Abnormal palm morphology	7750	ZMYM2	OMIM:619522
HP:0100871	Abnormal palm morphology	5727	PTCH1	ORPHA:77301
HP:0100871	Abnormal palm morphology	5727	PTCH1	ORPHA:377
HP:0100871	Abnormal palm morphology	5727	PTCH1	OMIM:109400
HP:0100871	Abnormal palm morphology	8643	PTCH2	ORPHA:377
HP:0100871	Abnormal palm morphology	51684	SUFU	ORPHA:377
HP:0100871	Abnormal palm morphology	10519	CIB1	OMIM:618267
HP:0100871	Abnormal palm morphology	56983	POGLUT1	ORPHA:79145
HP:0100871	Abnormal palm morphology	23509	POFUT1	ORPHA:79145
HP:0100871	Abnormal palm morphology	55851	PSENEN	ORPHA:79145
HP:0100871	Abnormal palm morphology	488	ATP2A2	OMIM:124200
HP:0100871	Abnormal palm morphology	56916	SMARCAD1	OMIM:136000
HP:0100871	Abnormal palm morphology	55906	ZC4H2	OMIM:314580
HP:0100871	Abnormal palm morphology	80326	WNT10A	OMIM:150400
HP:0100871	Abnormal palm morphology	81607	NECTIN4	OMIM:613573
HP:0100871	Abnormal palm morphology	3868	KRT16	ORPHA:2199
HP:0100871	Abnormal palm morphology	3868	KRT16	ORPHA:2309
HP:0100871	Abnormal palm morphology	3857	KRT9	ORPHA:2199
HP:0100871	Abnormal palm morphology	3857	KRT9	OMIM:144200
HP:0100871	Abnormal palm morphology	3848	KRT1	ORPHA:2199
HP:0100871	Abnormal palm morphology	3852	KRT5	ORPHA:79397
HP:0100871	Abnormal palm morphology	3852	KRT5	ORPHA:79399
HP:0100871	Abnormal palm morphology	3852	KRT5	ORPHA:79400
HP:0100871	Abnormal palm morphology	3861	KRT14	ORPHA:79397
HP:0100871	Abnormal palm morphology	3861	KRT14	ORPHA:79399
HP:0100871	Abnormal palm morphology	3861	KRT14	ORPHA:79400
HP:0100871	Abnormal palm morphology	3853	KRT6A	OMIM:615726
HP:0100871	Abnormal palm morphology	3853	KRT6A	ORPHA:2309
HP:0100871	Abnormal palm morphology	3872	KRT17	ORPHA:2309
HP:0100871	Abnormal palm morphology	3854	KRT6B	ORPHA:2309
HP:0100871	Abnormal palm morphology	81031	SLC2A10	ORPHA:3342
HP:0100871	Abnormal palm morphology	65109	UPF3B	OMIM:300676
HP:0100871	Abnormal palm morphology	5447	POR	ORPHA:95699
HP:0100871	Abnormal palm morphology	7528	YY1	ORPHA:506358
HP:0100871	Abnormal palm morphology	10625	IVNS1ABP	OMIM:618969
HP:0100871	Abnormal palm morphology	920	CD4	OMIM:619238
HP:0100871	Abnormal palm morphology	242	ALOX12B	OMIM:242100
HP:0100871	Abnormal palm morphology	59344	ALOXE3	OMIM:242100
HP:0100871	Abnormal palm morphology	59344	ALOXE3	OMIM:606545
HP:0100871	Abnormal palm morphology	126410	CYP4F22	OMIM:604777
HP:0100871	Abnormal palm morphology	126695	KDF1	OMIM:617337
HP:0100871	Abnormal palm morphology	412	STS	OMIM:308100
HP:0100871	Abnormal palm morphology	204219	CERS3	OMIM:615023
HP:0100871	Abnormal palm morphology	2312	FLG	OMIM:146700
HP:0100871	Abnormal palm morphology	94	ACVRL1	OMIM:600376
HP:0100871	Abnormal palm morphology	54345	SOX18	ORPHA:69735
HP:0100871	Abnormal palm morphology	54345	SOX18	OMIM:607823
HP:0100871	Abnormal palm morphology	2859	GPR35	ORPHA:171
HP:0100871	Abnormal palm morphology	10507	SEMA4D	ORPHA:171
HP:0100871	Abnormal palm morphology	4485	MST1	ORPHA:171
HP:0100872	Abnormality of the plantar skin of foot	7051	TGM1	OMIM:242300
HP:0100872	Abnormality of the plantar skin of foot	7051	TGM1	ORPHA:100976
HP:0100872	Abnormality of the plantar skin of foot	3858	KRT10	OMIM:607602
HP:0100872	Abnormality of the plantar skin of foot	3858	KRT10	OMIM:609165
HP:0100872	Abnormality of the plantar skin of foot	121214	SDR9C7	OMIM:617574
HP:0100872	Abnormality of the plantar skin of foot	55651	NHP2	OMIM:224230
HP:0100872	Abnormality of the plantar skin of foot	55505	NOP10	OMIM:224230
HP:0100872	Abnormality of the plantar skin of foot	1075	CTSC	OMIM:170650
HP:0100872	Abnormality of the plantar skin of foot	1075	CTSC	OMIM:245000
HP:0100872	Abnormality of the plantar skin of foot	1075	CTSC	ORPHA:678
HP:0100872	Abnormality of the plantar skin of foot	8710	SERPINB7	OMIM:615598
HP:0100872	Abnormality of the plantar skin of foot	121391	KRT74	OMIM:194300
HP:0100872	Abnormality of the plantar skin of foot	3248	HPGD	OMIM:259100
HP:0100872	Abnormality of the plantar skin of foot	3857	KRT9	OMIM:144200
HP:0100872	Abnormality of the plantar skin of foot	3857	KRT9	ORPHA:2199
HP:0100872	Abnormality of the plantar skin of foot	7373	COL14A1	ORPHA:79501
HP:0100872	Abnormality of the plantar skin of foot	79719	AAGAB	ORPHA:79501
HP:0100872	Abnormality of the plantar skin of foot	10804	GJB6	ORPHA:189
HP:0100872	Abnormality of the plantar skin of foot	10804	GJB6	OMIM:129500
HP:0100872	Abnormality of the plantar skin of foot	5605	MAP2K2	OMIM:615280
HP:0100872	Abnormality of the plantar skin of foot	5728	PTEN	OMIM:158350
HP:0100872	Abnormality of the plantar skin of foot	57511	COG6	ORPHA:363523
HP:0100872	Abnormality of the plantar skin of foot	57511	COG6	OMIM:615328
HP:0100872	Abnormality of the plantar skin of foot	5159	PDGFRB	OMIM:601812
HP:0100872	Abnormality of the plantar skin of foot	10651	MTX2	OMIM:619127
HP:0100872	Abnormality of the plantar skin of foot	22861	NLRP1	OMIM:617388
HP:0100872	Abnormality of the plantar skin of foot	51360	MBTPS2	OMIM:300918
HP:0100872	Abnormality of the plantar skin of foot	64065	PERP	OMIM:619209
HP:0100872	Abnormality of the plantar skin of foot	64065	PERP	OMIM:619208
HP:0100872	Abnormality of the plantar skin of foot	55612	FERMT1	OMIM:173650
HP:0100872	Abnormality of the plantar skin of foot	5818	NECTIN1	ORPHA:3253
HP:0100872	Abnormality of the plantar skin of foot	5818	NECTIN1	OMIM:225060
HP:0100872	Abnormality of the plantar skin of foot	7015	TERT	OMIM:613989
HP:0100872	Abnormality of the plantar skin of foot	3889	KRT83	OMIM:617756
HP:0100872	Abnormality of the plantar skin of foot	9487	PIGL	OMIM:280000
HP:0100872	Abnormality of the plantar skin of foot	80326	WNT10A	OMIM:257980
HP:0100872	Abnormality of the plantar skin of foot	8086	AAAS	OMIM:231550
HP:0100872	Abnormality of the plantar skin of foot	9896	FIG4	OMIM:216340
HP:0100872	Abnormality of the plantar skin of foot	7286	TUFT1	OMIM:607655
HP:0100872	Abnormality of the plantar skin of foot	5290	PIK3CA	OMIM:615108
HP:0100872	Abnormality of the plantar skin of foot	207	AKT1	OMIM:615109
HP:0100872	Abnormality of the plantar skin of foot	667	DST	OMIM:615425
HP:0100872	Abnormality of the plantar skin of foot	2531	KDSR	OMIM:617526
HP:0100872	Abnormality of the plantar skin of foot	9015	TAF1A	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	5663	PSEN1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	6389	SDHA	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7112	TMPO	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	9464	HAND2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	4625	MYH7	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	88	ACTN2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	10486	CAP2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7168	TPM1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7414	VCL	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	70	ACTC1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	27063	ANKRD1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	8048	CSRP3	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	1410	CRYAB	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	4000	LMNA	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7139	TNNT2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	1829	DSG2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	3910	LAMA4	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	63976	PRDM16	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7273	TTN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	10587	TXNRD2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	9531	BAG3	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	5350	PLN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	91624	NEXN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	79717	PPCS	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	5664	PSEN2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	4624	MYH6	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	9529	BAG5	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	4607	MYBPC3	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	282996	RBM20	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7137	TNNI3	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	11155	LDB3	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	2274	FHL2	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	6901	TAFAZZIN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	22845	DOLK	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	5894	RAF1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	1756	DMD	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	57798	GATAD1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	7134	TNNC1	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	84665	MYPN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	1674	DES	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	6444	SGCD	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	6331	SCN5A	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	2218	FKTN	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	8557	TCAP	ORPHA:154
HP:0100872	Abnormality of the plantar skin of foot	79092	CARD14	OMIM:173200
HP:0100872	Abnormality of the plantar skin of foot	79092	CARD14	ORPHA:2897
HP:0100872	Abnormality of the plantar skin of foot	1308	COL17A1	ORPHA:79406
HP:0100872	Abnormality of the plantar skin of foot	1308	COL17A1	ORPHA:79402
HP:0100872	Abnormality of the plantar skin of foot	4312	MMP1	ORPHA:79408
HP:0100872	Abnormality of the plantar skin of foot	162	AP1B1	OMIM:242150
HP:0100872	Abnormality of the plantar skin of foot	4574	MT-TS1	ORPHA:2202
HP:0100872	Abnormality of the plantar skin of foot	1824	DSC2	OMIM:610476
HP:0100872	Abnormality of the plantar skin of foot	8626	TP63	OMIM:106260
HP:0100872	Abnormality of the plantar skin of foot	8626	TP63	OMIM:129400
HP:0100872	Abnormality of the plantar skin of foot	3849	KRT2	ORPHA:455
HP:0100872	Abnormality of the plantar skin of foot	5604	MAP2K1	ORPHA:1340
HP:0100872	Abnormality of the plantar skin of foot	3845	KRAS	ORPHA:1340
HP:0100872	Abnormality of the plantar skin of foot	6578	SLCO2A1	ORPHA:2796
HP:0100872	Abnormality of the plantar skin of foot	3909	LAMA3	ORPHA:79402
HP:0100872	Abnormality of the plantar skin of foot	3918	LAMC2	ORPHA:79402
HP:0100872	Abnormality of the plantar skin of foot	3691	ITGB4	ORPHA:79402
HP:0100872	Abnormality of the plantar skin of foot	26154	ABCA12	OMIM:601277
HP:0100872	Abnormality of the plantar skin of foot	26154	ABCA12	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	6898	TAT	ORPHA:28378
HP:0100872	Abnormality of the plantar skin of foot	10483	SEC23B	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	6390	SDHB	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	6392	SDHD	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	6391	SDHC	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	205717	USF3	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	100144748	KLLN	ORPHA:201
HP:0100872	Abnormality of the plantar skin of foot	1475	CSTA	OMIM:607936
HP:0100872	Abnormality of the plantar skin of foot	285848	PNPLA1	OMIM:615024
HP:0100872	Abnormality of the plantar skin of foot	285848	PNPLA1	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	23328	SASH1	OMIM:618373
HP:0100872	Abnormality of the plantar skin of foot	1474	CST6	OMIM:618535
HP:0100872	Abnormality of the plantar skin of foot	412	STS	OMIM:308100
HP:0100872	Abnormality of the plantar skin of foot	54795	TRPM4	ORPHA:316
HP:0100872	Abnormality of the plantar skin of foot	242	ALOX12B	OMIM:242100
HP:0100872	Abnormality of the plantar skin of foot	242	ALOX12B	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	59344	ALOXE3	OMIM:242100
HP:0100872	Abnormality of the plantar skin of foot	59344	ALOXE3	OMIM:606545
HP:0100872	Abnormality of the plantar skin of foot	59344	ALOXE3	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	126410	CYP4F22	OMIM:604777
HP:0100872	Abnormality of the plantar skin of foot	348938	NIPAL4	OMIM:612281
HP:0100872	Abnormality of the plantar skin of foot	348938	NIPAL4	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	5184	PEPD	ORPHA:742
HP:0100872	Abnormality of the plantar skin of foot	25959	KANK2	OMIM:616099
HP:0100872	Abnormality of the plantar skin of foot	57192	MCOLN1	ORPHA:578
HP:0100872	Abnormality of the plantar skin of foot	1493	CTLA4	ORPHA:3162
HP:0100872	Abnormality of the plantar skin of foot	940	CD28	ORPHA:3162
HP:0100872	Abnormality of the plantar skin of foot	7133	TNFRSF1B	ORPHA:3162
HP:0100872	Abnormality of the plantar skin of foot	79977	GRHL2	OMIM:616029
HP:0100872	Abnormality of the plantar skin of foot	23592	LEMD3	ORPHA:1306
HP:0100872	Abnormality of the plantar skin of foot	79644	SRD5A3	ORPHA:324737
HP:0100872	Abnormality of the plantar skin of foot	80169	CTC1	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	26277	TINF2	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	55135	WRAP53	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	51750	RTEL1	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	4869	NPM1	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	7012	TERC	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	5073	PARN	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	1736	DKC1	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	7298	TYMS	ORPHA:1775
HP:0100872	Abnormality of the plantar skin of foot	204219	CERS3	ORPHA:79394
HP:0100872	Abnormality of the plantar skin of foot	171023	ASXL1	OMIM:605039
HP:0100872	Abnormality of the plantar skin of foot	3190	HNRNPK	OMIM:616580
HP:0100872	Abnormality of the plantar skin of foot	5587	PRKD1	OMIM:617364
HP:0100872	Abnormality of the plantar skin of foot	2475	MTOR	OMIM:616638
HP:0100872	Abnormality of the plantar skin of foot	9091	PIGQ	OMIM:618548
HP:0100872	Abnormality of the plantar skin of foot	526	ATP6V1B2	ORPHA:3473
HP:0100872	Abnormality of the plantar skin of foot	3756	KCNH1	ORPHA:3473
HP:0100872	Abnormality of the plantar skin of foot	3782	KCNN3	ORPHA:3473
HP:0100872	Abnormality of the plantar skin of foot	3265	HRAS	OMIM:218040
HP:0100872	Abnormality of the plantar skin of foot	3764	KCNJ8	ORPHA:1517
HP:0100872	Abnormality of the plantar skin of foot	10060	ABCC9	ORPHA:1517
HP:0100872	Abnormality of the plantar skin of foot	83550	GPR101	ORPHA:963
HP:0100872	Abnormality of the plantar skin of foot	9049	AIP	ORPHA:963
HP:0100872	Abnormality of the plantar skin of foot	2074	ERCC6	OMIM:214150
HP:0100872	Abnormality of the plantar skin of foot	23556	PIGN	ORPHA:280633
HP:0100872	Abnormality of the plantar skin of foot	162514	TRPV3	OMIM:616400
HP:0100872	Abnormality of the plantar skin of foot	1832	DSP	ORPHA:65282
HP:0100872	Abnormality of the plantar skin of foot	2697	GJA1	ORPHA:317
HP:0100872	Abnormality of the plantar skin of foot	2707	GJB3	ORPHA:317
HP:0100872	Abnormality of the plantar skin of foot	2707	GJB3	OMIM:133200
HP:0100872	Abnormality of the plantar skin of foot	127534	GJB4	ORPHA:317
HP:0100872	Abnormality of the plantar skin of foot	1080	CFTR	ORPHA:498359
HP:0100872	Abnormality of the plantar skin of foot	1508	CTSB	OMIM:148370
HP:0100872	Abnormality of the plantar skin of foot	9373	PLAA	OMIM:617527
HP:0100872	Abnormality of the plantar skin of foot	284654	RSPO1	OMIM:610644
HP:0100872	Abnormality of the plantar skin of foot	1041	CDSN	OMIM:270300
HP:0100872	Abnormality of the plantar skin of foot	5317	PKP1	OMIM:604536
HP:0100872	Abnormality of the plantar skin of foot	1294	COL7A1	ORPHA:79409
HP:0100872	Abnormality of the plantar skin of foot	1294	COL7A1	ORPHA:79410
HP:0100872	Abnormality of the plantar skin of foot	3861	KRT14	ORPHA:89838
HP:0100872	Abnormality of the plantar skin of foot	3861	KRT14	OMIM:131800
HP:0100872	Abnormality of the plantar skin of foot	3861	KRT14	ORPHA:79400
HP:0100872	Abnormality of the plantar skin of foot	3852	KRT5	OMIM:619555
HP:0100872	Abnormality of the plantar skin of foot	3852	KRT5	OMIM:619588
HP:0100872	Abnormality of the plantar skin of foot	3852	KRT5	OMIM:619594
HP:0100872	Abnormality of the plantar skin of foot	3852	KRT5	ORPHA:79400
HP:0100872	Abnormality of the plantar skin of foot	3848	KRT1	ORPHA:530838
HP:0100872	Abnormality of the plantar skin of foot	3868	KRT16	ORPHA:2309
HP:0100872	Abnormality of the plantar skin of foot	3872	KRT17	ORPHA:2309
HP:0100872	Abnormality of the plantar skin of foot	3853	KRT6A	ORPHA:2309
HP:0100872	Abnormality of the plantar skin of foot	3854	KRT6B	ORPHA:2309
HP:0100872	Abnormality of the plantar skin of foot	5339	PLEC	ORPHA:79401
HP:0100872	Abnormality of the plantar skin of foot	1828	DSG1	OMIM:148700
HP:0100872	Abnormality of the plantar skin of foot	362	AQP5	OMIM:600231
HP:0100872	Abnormality of the plantar skin of foot	362	AQP5	ORPHA:2337
HP:0100872	Abnormality of the plantar skin of foot	3728	JUP	OMIM:601214
HP:0100872	Abnormality of the plantar skin of foot	57152	SLURP1	ORPHA:86923
HP:0100872	Abnormality of the plantar skin of foot	145264	SERPINA12	ORPHA:86923
HP:0100872	Abnormality of the plantar skin of foot	54800	KLHL24	OMIM:617294
HP:0100872	Abnormality of the plantar skin of foot	9342	SNAP29	ORPHA:66631
HP:0100872	Abnormality of the plantar skin of foot	79651	RHBDF2	OMIM:148500
HP:0100872	Abnormality of the plantar skin of foot	4014	LORICRIN	OMIM:604117
HP:0100872	Abnormality of the plantar skin of foot	4014	LORICRIN	ORPHA:79395
HP:0100872	Abnormality of the plantar skin of foot	2706	GJB2	OMIM:124500
HP:0100872	Abnormality of the plantar skin of foot	2706	GJB2	ORPHA:494
HP:0100872	Abnormality of the plantar skin of foot	51371	POMP	OMIM:601952
HP:0100872	Abnormality of the plantar skin of foot	11285	B4GALT7	ORPHA:75496
HP:0100872	Abnormality of the plantar skin of foot	11285	B4GALT7	OMIM:130070
HP:0100872	Abnormality of the plantar skin of foot	715	C1R	OMIM:130080
HP:0100872	Abnormality of the plantar skin of foot	2261	FGFR3	OMIM:616482
HP:0100872	Abnormality of the plantar skin of foot	22808	MRAS	OMIM:618499
HP:0100872	Abnormality of the plantar skin of foot	5351	PLOD1	OMIM:225400
HP:0100872	Abnormality of the plantar skin of foot	8216	LZTR1	OMIM:616564
HP:0100872	Abnormality of the plantar skin of foot	8216	LZTR1	OMIM:605275
HP:0100872	Abnormality of the plantar skin of foot	84627	ZNF469	OMIM:229200
HP:0100872	Abnormality of the plantar skin of foot	6016	RIT1	OMIM:615355
HP:0100872	Abnormality of the plantar skin of foot	2263	FGFR2	OMIM:123790
HP:0100872	Abnormality of the plantar skin of foot	23545	ATP6V0A2	OMIM:278250
HP:0100872	Abnormality of the plantar skin of foot	5167	ENPP1	OMIM:615522
HP:0100872	Abnormality of the plantar skin of foot	831	CAST	OMIM:616295
HP:0100872	Abnormality of the plantar skin of foot	26276	VPS33B	OMIM:620009
HP:0100872	Abnormality of the plantar skin of foot	56916	SMARCAD1	OMIM:181600
HP:0100872	Abnormality of the plantar skin of foot	3914	LAMB3	OMIM:226650
HP:0100872	Abnormality of the plantar skin of foot	9401	RECQL4	ORPHA:221016
HP:0100872	Abnormality of the plantar skin of foot	286887	KRT6C	OMIM:615735
HP:0100872	Abnormality of the plantar skin of foot	29926	GMPPA	ORPHA:869
HP:0100872	Abnormality of the plantar skin of foot	60684	TRAPPC11	ORPHA:869
HP:0100872	Abnormality of the plantar skin of foot	79650	USB1	OMIM:604173
HP:0100872	Abnormality of the plantar skin of foot	64682	ANAPC1	ORPHA:221008
HP:0100872	Abnormality of the plantar skin of foot	1387	CREBBP	OMIM:180849
HP:0100872	Abnormality of the plantar skin of foot	2033	EP300	OMIM:180849
HP:0100872	Abnormality of the plantar skin of foot	673	BRAF	OMIM:115150
HP:0100872	Abnormality of the plantar skin of foot	5727	PTCH1	ORPHA:77301
HP:0100872	Abnormality of the plantar skin of foot	5727	PTCH1	ORPHA:377
HP:0100872	Abnormality of the plantar skin of foot	5727	PTCH1	OMIM:109400
HP:0100872	Abnormality of the plantar skin of foot	8643	PTCH2	ORPHA:377
HP:0100872	Abnormality of the plantar skin of foot	51684	SUFU	ORPHA:377
HP:0100872	Abnormality of the plantar skin of foot	488	ATP2A2	ORPHA:218
HP:0100872	Abnormality of the plantar skin of foot	488	ATP2A2	OMIM:124200
HP:0100872	Abnormality of the plantar skin of foot	10625	IVNS1ABP	OMIM:618969
HP:0100872	Abnormality of the plantar skin of foot	920	CD4	OMIM:619238
HP:0100872	Abnormality of the plantar skin of foot	3981	LIG4	OMIM:606593
HP:0100872	Abnormality of the plantar skin of foot	54345	SOX18	ORPHA:69735
HP:0100872	Abnormality of the plantar skin of foot	1593	CYP27A1	ORPHA:909
HP:0100872	Abnormality of the plantar skin of foot	79718	TBL1XR1	ORPHA:487825
HP:0100870	Plantar telangiectasia	54345	SOX18	ORPHA:69735
HP:0100876	Infra-orbital crease	4036	LRP2	OMIM:222448
HP:0100876	Infra-orbital crease	1725	DHPS	OMIM:618480
HP:0100876	Infra-orbital crease	16	AARS1	OMIM:619691
HP:0100876	Infra-orbital crease	8260	NAA10	OMIM:300855
HP:0100876	Infra-orbital crease	54517	PUS7	OMIM:618342
HP:0100876	Infra-orbital crease	55699	IARS2	OMIM:616007
HP:0100876	Infra-orbital crease	6659	SOX4	OMIM:618506
HP:0100876	Infra-orbital crease	4190	MDH1	OMIM:618959
HP:0100876	Infra-orbital crease	2263	FGFR2	OMIM:123790
HP:0100874	Thick hair	9076	CLDN1	OMIM:607626
HP:0100874	Thick hair	50801	KCNK4	OMIM:618381
HP:0100874	Thick hair	25839	COG4	ORPHA:263501
HP:0100874	Thick hair	25839	COG4	OMIM:613489
HP:0100874	Thick hair	65082	VPS33A	ORPHA:505248
HP:0100874	Thick hair	538	ATP7A	ORPHA:198
HP:0100874	Thick hair	157680	VPS13B	ORPHA:193
HP:0100874	Thick hair	55154	MSTO1	OMIM:617675
HP:0100874	Thick hair	55154	MSTO1	ORPHA:502423
HP:0100874	Thick hair	23545	ATP6V0A2	ORPHA:357074
HP:0100874	Thick hair	523	ATP6V1A	ORPHA:357074
HP:0100874	Thick hair	529	ATP6V1E1	ORPHA:357074
HP:0100874	Thick hair	9853	RUSC2	OMIM:617773
HP:0100874	Thick hair	3756	KCNH1	OMIM:135500
HP:0100874	Thick hair	27125	AFF4	OMIM:616368
HP:0100874	Thick hair	27125	AFF4	ORPHA:444077
HP:0100874	Thick hair	3643	INSR	ORPHA:769
HP:0100874	Thick hair	4750	NEK1	ORPHA:2751
HP:0100874	Thick hair	171023	ASXL1	OMIM:605039
HP:0100874	Thick hair	137682	NDUFAF6	OMIM:618239
HP:0100874	Thick hair	3782	KCNN3	OMIM:618658
HP:0100874	Thick hair	9126	SMC3	OMIM:610759
HP:0100874	Thick hair	4297	KMT2A	OMIM:605130
HP:0100879	Enlarged ovaries	1528	CYB5A	ORPHA:90796
HP:0100879	Enlarged ovaries	1586	CYP17A1	ORPHA:90796
HP:0100879	Enlarged ovaries	2099	ESR1	ORPHA:785
HP:0100879	Enlarged ovaries	10483	SEC23B	ORPHA:201
HP:0100879	Enlarged ovaries	5728	PTEN	ORPHA:201
HP:0100879	Enlarged ovaries	5728	PTEN	ORPHA:744
HP:0100879	Enlarged ovaries	6390	SDHB	ORPHA:201
HP:0100879	Enlarged ovaries	6392	SDHD	ORPHA:201
HP:0100879	Enlarged ovaries	6391	SDHC	ORPHA:201
HP:0100879	Enlarged ovaries	207	AKT1	ORPHA:201
HP:0100879	Enlarged ovaries	207	AKT1	ORPHA:744
HP:0100879	Enlarged ovaries	205717	USF3	ORPHA:201
HP:0100879	Enlarged ovaries	5290	PIK3CA	ORPHA:201
HP:0100879	Enlarged ovaries	100144748	KLLN	ORPHA:201
HP:0100879	Enlarged ovaries	6794	STK11	ORPHA:2869
HP:0100879	Enlarged ovaries	2492	FSHR	ORPHA:64739
HP:0100879	Enlarged ovaries	1588	CYP19A1	ORPHA:91
HP:0100879	Enlarged ovaries	5447	POR	ORPHA:95699
HP:0100879	Enlarged ovaries	4281	MID1	ORPHA:2745
HP:0100879	Enlarged ovaries	3643	INSR	ORPHA:508
HP:0100879	Enlarged ovaries	3643	INSR	ORPHA:769
HP:0011347	Abnormality of ocular abduction	64221	ROBO3	OMIM:607313
HP:0011347	Abnormality of ocular abduction	9935	MAFB	OMIM:617041
HP:0011347	Abnormality of ocular abduction	57167	SALL4	OMIM:607323
HP:0011347	Abnormality of ocular abduction	389827	MYMK	ORPHA:1358
HP:0011347	Abnormality of ocular abduction	101929726	MYMX	ORPHA:1358
HP:0011347	Abnormality of ocular abduction	2911	GRM1	ORPHA:324262
HP:0011344	Severe global developmental delay	2137	EXTL3	ORPHA:508533
HP:0011344	Severe global developmental delay	4702	NDUFA8	OMIM:619272
HP:0011344	Severe global developmental delay	27183	VPS4A	OMIM:619273
HP:0011344	Severe global developmental delay	7528	YY1	ORPHA:506358
HP:0011344	Severe global developmental delay	158	ADSL	OMIM:103050
HP:0011344	Severe global developmental delay	158	ADSL	ORPHA:46
HP:0011344	Severe global developmental delay	3763	KCNJ6	ORPHA:435628
HP:0011344	Severe global developmental delay	23394	ADNP	ORPHA:404448
HP:0011344	Severe global developmental delay	10617	STAMBP	OMIM:614261
HP:0011344	Severe global developmental delay	26235	FBXL4	OMIM:615471
HP:0011344	Severe global developmental delay	8367	H4C5	OMIM:619950
HP:0011344	Severe global developmental delay	55823	VPS11	OMIM:616683
HP:0011344	Severe global developmental delay	4204	MECP2	ORPHA:1762
HP:0011344	Severe global developmental delay	4204	MECP2	ORPHA:3095
HP:0011344	Severe global developmental delay	4204	MECP2	OMIM:300260
HP:0011344	Severe global developmental delay	23556	PIGN	ORPHA:2059
HP:0011344	Severe global developmental delay	23556	PIGN	ORPHA:280633
HP:0011344	Severe global developmental delay	7360	UGP2	OMIM:618744
HP:0011344	Severe global developmental delay	55624	POMGNT1	OMIM:253280
HP:0011344	Severe global developmental delay	1119	CHKA	OMIM:620023
HP:0011344	Severe global developmental delay	51343	FZR1	OMIM:620145
HP:0011344	Severe global developmental delay	132158	GLYCTK	ORPHA:941
HP:0011344	Severe global developmental delay	4535	MT-ND1	ORPHA:255210
HP:0011344	Severe global developmental delay	4536	MT-ND2	ORPHA:255210
HP:0011344	Severe global developmental delay	4537	MT-ND3	ORPHA:255210
HP:0011344	Severe global developmental delay	4538	MT-ND4	ORPHA:255210
HP:0011344	Severe global developmental delay	4567	MT-TL1	ORPHA:255210
HP:0011344	Severe global developmental delay	4578	MT-TW	ORPHA:255210
HP:0011344	Severe global developmental delay	4577	MT-TV	ORPHA:255210
HP:0011344	Severe global developmental delay	4508	MT-ATP6	ORPHA:255210
HP:0011344	Severe global developmental delay	4540	MT-ND5	ORPHA:255210
HP:0011344	Severe global developmental delay	4541	MT-ND6	ORPHA:255210
HP:0011344	Severe global developmental delay	4566	MT-TK	ORPHA:255210
HP:0011344	Severe global developmental delay	2593	GAMT	ORPHA:382
HP:0011344	Severe global developmental delay	2593	GAMT	OMIM:612736
HP:0011344	Severe global developmental delay	80232	WDR26	ORPHA:513456
HP:0011344	Severe global developmental delay	51112	TRAPPC12	ORPHA:500144
HP:0011344	Severe global developmental delay	51112	TRAPPC12	OMIM:617669
HP:0011344	Severe global developmental delay	80816	ASXL3	OMIM:615485
HP:0011344	Severe global developmental delay	6487	ST3GAL3	OMIM:615006
HP:0011344	Severe global developmental delay	4552	MTRR	ORPHA:2169
HP:0011344	Severe global developmental delay	84197	POMK	OMIM:615249
HP:0011344	Severe global developmental delay	2911	GRM1	OMIM:614831
HP:0011344	Severe global developmental delay	25782	RAB3GAP2	OMIM:212720
HP:0011344	Severe global developmental delay	25782	RAB3GAP2	OMIM:614225
HP:0011344	Severe global developmental delay	9915	ARNT2	OMIM:615926
HP:0011344	Severe global developmental delay	79158	GNPTAB	OMIM:252500
HP:0011344	Severe global developmental delay	57231	SNX14	ORPHA:397709
HP:0011344	Severe global developmental delay	284403	WDR62	OMIM:604317
HP:0011344	Severe global developmental delay	56992	KIF15	ORPHA:261323
HP:0011344	Severe global developmental delay	170302	ARX	OMIM:300215
HP:0011344	Severe global developmental delay	170302	ARX	OMIM:308350
HP:0011344	Severe global developmental delay	170302	ARX	ORPHA:2508
HP:0011344	Severe global developmental delay	129685	TAF8	OMIM:619972
HP:0011344	Severe global developmental delay	103	ADAR	OMIM:615010
HP:0011344	Severe global developmental delay	9692	PRORP	OMIM:619737
HP:0011344	Severe global developmental delay	10381	TUBB3	ORPHA:300570
HP:0011344	Severe global developmental delay	81857	MED25	ORPHA:464738
HP:0011344	Severe global developmental delay	170825	GSX2	OMIM:618646
HP:0011344	Severe global developmental delay	8560	DEGS1	OMIM:618404
HP:0011344	Severe global developmental delay	84504	NKX6-2	OMIM:617560
HP:0011344	Severe global developmental delay	4330	MN1	OMIM:618774
HP:0011344	Severe global developmental delay	1501	CTNND2	ORPHA:281
HP:0011344	Severe global developmental delay	9037	SEMA5A	ORPHA:281
HP:0011344	Severe global developmental delay	4212	MEIS2	OMIM:600987
HP:0011344	Severe global developmental delay	497661	C18orf32	OMIM:619985
HP:0011344	Severe global developmental delay	5442	POLRMT	OMIM:619743
HP:0011344	Severe global developmental delay	51199	NIN	OMIM:614851
HP:0011344	Severe global developmental delay	54872	PIGG	ORPHA:488635
HP:0011344	Severe global developmental delay	8550	MAPKAPK5	OMIM:619869
HP:0011344	Severe global developmental delay	5813	PURA	ORPHA:438216
HP:0011344	Severe global developmental delay	93627	TBCK	ORPHA:488632
HP:0011344	Severe global developmental delay	84342	COG8	ORPHA:95428
HP:0011344	Severe global developmental delay	4915	NTRK2	OMIM:613886
HP:0011344	Severe global developmental delay	2752	GLUL	OMIM:610015
HP:0011344	Severe global developmental delay	10716	TBR1	ORPHA:1617
HP:0011344	Severe global developmental delay	4247	MGAT2	OMIM:212066
HP:0011344	Severe global developmental delay	149371	EXOC8	OMIM:619076
HP:0011344	Severe global developmental delay	285175	UNC80	OMIM:616801
HP:0011344	Severe global developmental delay	79753	SNIP1	OMIM:614501
HP:0011344	Severe global developmental delay	3912	LAMB1	ORPHA:352682
HP:0011344	Severe global developmental delay	3912	LAMB1	OMIM:615191
HP:0011344	Severe global developmental delay	85365	ALG2	ORPHA:79326
HP:0011344	Severe global developmental delay	85365	ALG2	OMIM:607906
HP:0011344	Severe global developmental delay	56052	ALG1	ORPHA:79327
HP:0011344	Severe global developmental delay	5626	PROP1	ORPHA:95494
HP:0011344	Severe global developmental delay	2736	GLI2	ORPHA:95494
HP:0011344	Severe global developmental delay	89884	LHX4	ORPHA:95494
HP:0011344	Severe global developmental delay	3170	FOXA2	ORPHA:95494
HP:0011344	Severe global developmental delay	5449	POU1F1	ORPHA:95494
HP:0011344	Severe global developmental delay	8820	HESX1	ORPHA:95494
HP:0011344	Severe global developmental delay	5015	OTX2	ORPHA:95494
HP:0011344	Severe global developmental delay	10436	EMG1	ORPHA:1270
HP:0011344	Severe global developmental delay	253959	RALGAPA1	OMIM:618797
HP:0011344	Severe global developmental delay	25828	TXN2	ORPHA:478029
HP:0011344	Severe global developmental delay	25828	TXN2	OMIM:616811
HP:0011344	Severe global developmental delay	5192	PEX10	OMIM:614870
HP:0011344	Severe global developmental delay	5192	PEX10	ORPHA:44
HP:0011344	Severe global developmental delay	7358	UGDH	OMIM:618792
HP:0011344	Severe global developmental delay	182	JAG1	OMIM:118450
HP:0011344	Severe global developmental delay	2555	GABRA2	OMIM:618557
HP:0011344	Severe global developmental delay	9409	PEX16	OMIM:614876
HP:0011344	Severe global developmental delay	9409	PEX16	ORPHA:44
HP:0011344	Severe global developmental delay	388015	RTL1	ORPHA:96334
HP:0011344	Severe global developmental delay	8788	DLK1	ORPHA:96334
HP:0011344	Severe global developmental delay	55384	MEG3	ORPHA:96334
HP:0011344	Severe global developmental delay	8813	DPM1	OMIM:608799
HP:0011344	Severe global developmental delay	55670	PEX26	ORPHA:44
HP:0011344	Severe global developmental delay	5824	PEX19	ORPHA:44
HP:0011344	Severe global developmental delay	5828	PEX2	ORPHA:44
HP:0011344	Severe global developmental delay	8504	PEX3	ORPHA:44
HP:0011344	Severe global developmental delay	8504	PEX3	OMIM:614882
HP:0011344	Severe global developmental delay	5190	PEX6	ORPHA:44
HP:0011344	Severe global developmental delay	8799	PEX11B	ORPHA:44
HP:0011344	Severe global developmental delay	5830	PEX5	ORPHA:44
HP:0011344	Severe global developmental delay	5189	PEX1	ORPHA:44
HP:0011344	Severe global developmental delay	5193	PEX12	ORPHA:44
HP:0011344	Severe global developmental delay	5194	PEX13	ORPHA:44
HP:0011344	Severe global developmental delay	5195	PEX14	ORPHA:44
HP:0011344	Severe global developmental delay	8573	CASK	ORPHA:163937
HP:0011344	Severe global developmental delay	79989	IFT56	OMIM:619534
HP:0011344	Severe global developmental delay	284098	PIGW	OMIM:616025
HP:0011344	Severe global developmental delay	10463	SLC30A9	OMIM:617595
HP:0011344	Severe global developmental delay	8218	CLTCL1	ORPHA:453510
HP:0011344	Severe global developmental delay	55275	VPS53	OMIM:615851
HP:0011344	Severe global developmental delay	50628	GEMIN4	OMIM:617913
HP:0011344	Severe global developmental delay	283989	TSEN54	OMIM:277470
HP:0011344	Severe global developmental delay	283989	TSEN54	OMIM:225753
HP:0011344	Severe global developmental delay	283989	TSEN54	ORPHA:2524
HP:0011344	Severe global developmental delay	79087	ALG12	ORPHA:79324
HP:0011344	Severe global developmental delay	701	BUB1B	OMIM:257300
HP:0011344	Severe global developmental delay	9896	FIG4	OMIM:216340
HP:0011344	Severe global developmental delay	91137	SLC25A46	OMIM:619303
HP:0011344	Severe global developmental delay	1892	ECHS1	OMIM:616277
HP:0011344	Severe global developmental delay	26173	INTS1	OMIM:618571
HP:0011344	Severe global developmental delay	51693	TRAPPC2L	OMIM:618331
HP:0011344	Severe global developmental delay	9276	COPB2	OMIM:617800
HP:0011344	Severe global developmental delay	10243	GPHN	OMIM:615501
HP:0011344	Severe global developmental delay	55770	EXOC2	OMIM:619306
HP:0011344	Severe global developmental delay	81603	TRIM8	OMIM:619428
HP:0011344	Severe global developmental delay	2902	GRIN1	ORPHA:208447
HP:0011344	Severe global developmental delay	2902	GRIN1	OMIM:619814
HP:0011344	Severe global developmental delay	8243	SMC1A	OMIM:301044
HP:0011344	Severe global developmental delay	8243	SMC1A	ORPHA:3095
HP:0011344	Severe global developmental delay	56896	DPYSL5	OMIM:619435
HP:0011344	Severe global developmental delay	10765	KDM5B	OMIM:618109
HP:0011344	Severe global developmental delay	132	ADK	OMIM:614300
HP:0011344	Severe global developmental delay	23314	SATB2	ORPHA:251028
HP:0011344	Severe global developmental delay	92335	STRADA	ORPHA:500533
HP:0011344	Severe global developmental delay	51412	ACTL6B	OMIM:618468
HP:0011344	Severe global developmental delay	51412	ACTL6B	OMIM:618470
HP:0011344	Severe global developmental delay	51807	TUBA8	ORPHA:250972
HP:0011344	Severe global developmental delay	9526	MPDU1	OMIM:609180
HP:0011344	Severe global developmental delay	1605	DAG1	ORPHA:370997
HP:0011344	Severe global developmental delay	2258	FGF13	OMIM:301058
HP:0011344	Severe global developmental delay	128869	PIGU	OMIM:618590
HP:0011344	Severe global developmental delay	6792	CDKL5	ORPHA:3095
HP:0011344	Severe global developmental delay	6792	CDKL5	ORPHA:505652
HP:0011344	Severe global developmental delay	22854	NTNG1	ORPHA:3095
HP:0011344	Severe global developmental delay	9568	GABBR2	ORPHA:3095
HP:0011344	Severe global developmental delay	55610	VPS50	OMIM:619685
HP:0011344	Severe global developmental delay	6567	SLC16A2	OMIM:300523
HP:0011344	Severe global developmental delay	5649	RELN	ORPHA:89844
HP:0011344	Severe global developmental delay	10300	KATNB1	ORPHA:89844
HP:0011344	Severe global developmental delay	54820	NDE1	ORPHA:89844
HP:0011344	Severe global developmental delay	8882	ZPR1	OMIM:619321
HP:0011344	Severe global developmental delay	7280	TUBB2A	OMIM:615763
HP:0011344	Severe global developmental delay	50	ACO2	OMIM:614559
HP:0011344	Severe global developmental delay	55152	DALRD3	OMIM:618910
HP:0011344	Severe global developmental delay	79068	FTO	OMIM:612938
HP:0011344	Severe global developmental delay	54808	DYM	OMIM:223800
HP:0011344	Severe global developmental delay	5934	RBL2	OMIM:619690
HP:0011344	Severe global developmental delay	84340	GFM2	ORPHA:565624
HP:0011344	Severe global developmental delay	63925	ZNF335	OMIM:615095
HP:0011344	Severe global developmental delay	2530	FUT8	OMIM:618005
HP:0011344	Severe global developmental delay	54496	PRMT7	OMIM:617157
HP:0011344	Severe global developmental delay	8260	NAA10	OMIM:300855
HP:0011344	Severe global developmental delay	2068	ERCC2	ORPHA:1466
HP:0011344	Severe global developmental delay	2067	ERCC1	ORPHA:1466
HP:0011344	Severe global developmental delay	2074	ERCC6	ORPHA:1466
HP:0011344	Severe global developmental delay	2073	ERCC5	ORPHA:1466
HP:0011344	Severe global developmental delay	29920	PYCR2	ORPHA:481152
HP:0011344	Severe global developmental delay	2917	GRM7	OMIM:618922
HP:0011344	Severe global developmental delay	128989	TANGO2	ORPHA:480864
HP:0011344	Severe global developmental delay	91647	ATPAF2	OMIM:604273
HP:0011344	Severe global developmental delay	6045	RNF2	OMIM:619460
HP:0011344	Severe global developmental delay	1781	DYNC1I2	OMIM:618492
HP:0011344	Severe global developmental delay	23258	DENND5A	OMIM:617281
HP:0011344	Severe global developmental delay	8635	RNASET2	OMIM:612951
HP:0011344	Severe global developmental delay	26227	PHGDH	ORPHA:79351
HP:0011344	Severe global developmental delay	57572	DOCK6	OMIM:614219
HP:0011344	Severe global developmental delay	60386	SLC25A19	ORPHA:99742
HP:0011344	Severe global developmental delay	79718	TBL1XR1	ORPHA:487825
HP:0011344	Severe global developmental delay	8943	AP3D1	OMIM:617050
HP:0011344	Severe global developmental delay	6197	RPS6KA3	ORPHA:192
HP:0011344	Severe global developmental delay	57003	CCDC47	OMIM:618268
HP:0011344	Severe global developmental delay	4576	MT-TT	ORPHA:254857
HP:0011344	Severe global developmental delay	5167	ENPP1	ORPHA:51608
HP:0011344	Severe global developmental delay	368	ABCC6	ORPHA:51608
HP:0011344	Severe global developmental delay	6812	STXBP1	OMIM:612164
HP:0011344	Severe global developmental delay	94005	PIGS	OMIM:618143
HP:0011344	Severe global developmental delay	5702	PSMC3	OMIM:619354
HP:0011344	Severe global developmental delay	3747	KCNC2	OMIM:619913
HP:0011344	Severe global developmental delay	1859	DYRK1A	OMIM:614104
HP:0011344	Severe global developmental delay	9894	TELO2	ORPHA:488642
HP:0011344	Severe global developmental delay	3643	INSR	ORPHA:508
HP:0011344	Severe global developmental delay	25914	RTTN	ORPHA:468631
HP:0011344	Severe global developmental delay	1528	CYB5A	ORPHA:621
HP:0011344	Severe global developmental delay	1727	CYB5R3	ORPHA:621
HP:0011344	Severe global developmental delay	8567	MADD	OMIM:619004
HP:0011344	Severe global developmental delay	8567	MADD	OMIM:619005
HP:0011344	Severe global developmental delay	6857	SYT1	ORPHA:522077
HP:0011344	Severe global developmental delay	2566	GABRG2	OMIM:618396
HP:0011344	Severe global developmental delay	134353	LSM11	OMIM:619486
HP:0011344	Severe global developmental delay	116461	TSEN15	ORPHA:2524
HP:0011344	Severe global developmental delay	79042	TSEN34	ORPHA:2524
HP:0011344	Severe global developmental delay	80746	TSEN2	ORPHA:2524
HP:0011344	Severe global developmental delay	51091	SEPSECS	ORPHA:2524
HP:0011344	Severe global developmental delay	1806	DPYD	ORPHA:1675
HP:0011344	Severe global developmental delay	54676	GTPBP2	OMIM:617988
HP:0011344	Severe global developmental delay	8911	CACNA1I	OMIM:620114
HP:0011344	Severe global developmental delay	10522	DEAF1	ORPHA:468620
HP:0011344	Severe global developmental delay	1759	DNM1	OMIM:620352
HP:0011344	Severe global developmental delay	3756	KCNH1	ORPHA:420561
HP:0011344	Severe global developmental delay	51	ACOX1	OMIM:264470
HP:0011344	Severe global developmental delay	57020	VPS35L	OMIM:619135
HP:0011344	Severe global developmental delay	5331	PLCB3	OMIM:618961
HP:0011344	Severe global developmental delay	340533	NEXMIF	ORPHA:85277
HP:0011344	Severe global developmental delay	440	ASNS	OMIM:615574
HP:0011344	Severe global developmental delay	10479	SLC9A6	ORPHA:85278
HP:0011344	Severe global developmental delay	9197	SLC33A1	OMIM:614482
HP:0011344	Severe global developmental delay	2261	FGFR3	ORPHA:85165
HP:0011344	Severe global developmental delay	738	VPS51	OMIM:618606
HP:0011344	Severe global developmental delay	1968	EIF2S3	ORPHA:85282
HP:0011344	Severe global developmental delay	5557	PRIM1	OMIM:620005
HP:0011344	Severe global developmental delay	9757	KMT2B	OMIM:619934
HP:0011344	Severe global developmental delay	84153	RNASEH2C	OMIM:610329
HP:0011344	Severe global developmental delay	129285	PPP1R21	OMIM:619383
HP:0011344	Severe global developmental delay	23102	TBC1D2B	ORPHA:397973
HP:0011344	Severe global developmental delay	3735	KARS1	OMIM:619147
HP:0011344	Severe global developmental delay	1496	CTNNA2	OMIM:618174
HP:0011344	Severe global developmental delay	8803	SUCLA2	OMIM:612073
HP:0011344	Severe global developmental delay	221692	PHACTR1	OMIM:618298
HP:0011344	Severe global developmental delay	6326	SCN2A	OMIM:613721
HP:0011344	Severe global developmental delay	10535	RNASEH2A	OMIM:610333
HP:0011344	Severe global developmental delay	55753	OGDHL	OMIM:619701
HP:0011343	Moderate global developmental delay	9131	AIFM1	ORPHA:238329
HP:0011343	Moderate global developmental delay	23394	ADNP	ORPHA:404448
HP:0011343	Moderate global developmental delay	10265	IRX5	OMIM:611174
HP:0011343	Moderate global developmental delay	5702	PSMC3	OMIM:619354
HP:0011343	Moderate global developmental delay	10765	KDM5B	OMIM:618109
HP:0011343	Moderate global developmental delay	6389	SDHA	ORPHA:3208
HP:0011343	Moderate global developmental delay	6390	SDHB	ORPHA:3208
HP:0011343	Moderate global developmental delay	6392	SDHD	ORPHA:3208
HP:0011343	Moderate global developmental delay	644096	SDHAF1	ORPHA:3208
HP:0011343	Moderate global developmental delay	3034	HAL	ORPHA:2157
HP:0011343	Moderate global developmental delay	5238	PGM3	ORPHA:443811
HP:0011343	Moderate global developmental delay	7174	TPP2	ORPHA:444463
HP:0011343	Moderate global developmental delay	128989	TANGO2	ORPHA:480864
HP:0011343	Moderate global developmental delay	6792	CDKL5	ORPHA:505652
HP:0011343	Moderate global developmental delay	9496	TBX4	ORPHA:261279
HP:0011343	Moderate global developmental delay	54968	TMEM70	ORPHA:1194
HP:0011343	Moderate global developmental delay	54790	TET2	OMIM:619126
HP:0011343	Moderate global developmental delay	8567	MADD	OMIM:619005
HP:0011343	Moderate global developmental delay	23310	NCAPD3	OMIM:617984
HP:0011343	Moderate global developmental delay	4763	NF1	OMIM:193520
HP:0011343	Moderate global developmental delay	6662	SOX9	OMIM:114290
HP:0011343	Moderate global developmental delay	26227	PHGDH	ORPHA:79351
HP:0011343	Moderate global developmental delay	388015	RTL1	ORPHA:96334
HP:0011343	Moderate global developmental delay	8788	DLK1	ORPHA:96334
HP:0011343	Moderate global developmental delay	55384	MEG3	ORPHA:96334
HP:0011343	Moderate global developmental delay	5354	PLP1	ORPHA:280229
HP:0011343	Moderate global developmental delay	3028	HSD17B10	ORPHA:391428
HP:0011342	Mild global developmental delay	11285	B4GALT7	OMIM:130070
HP:0011342	Mild global developmental delay	23394	ADNP	ORPHA:404448
HP:0011342	Mild global developmental delay	10841	FTCD	ORPHA:51208
HP:0011342	Mild global developmental delay	6909	TBX2	OMIM:618223
HP:0011342	Mild global developmental delay	4952	OCRL	OMIM:300555
HP:0011342	Mild global developmental delay	2138	EYA1	OMIM:113650
HP:0011342	Mild global developmental delay	6495	SIX1	OMIM:113650
HP:0011342	Mild global developmental delay	4041	LRP5	ORPHA:178377
HP:0011342	Mild global developmental delay	4041	LRP5	ORPHA:891
HP:0011342	Mild global developmental delay	1000	CDH2	OMIM:619957
HP:0011342	Mild global developmental delay	6938	TCF12	OMIM:615314
HP:0011342	Mild global developmental delay	55526	DHTKD1	OMIM:204750
HP:0011342	Mild global developmental delay	5332	PLCB4	OMIM:614669
HP:0011342	Mild global developmental delay	22800	RRAS2	OMIM:618624
HP:0011342	Mild global developmental delay	10992	SF3B2	OMIM:164210
HP:0011342	Mild global developmental delay	22845	DOLK	ORPHA:91131
HP:0011342	Mild global developmental delay	8659	ALDH4A1	ORPHA:79101
HP:0011342	Mild global developmental delay	4173	MCM4	OMIM:609981
HP:0011342	Mild global developmental delay	9227	LRAT	ORPHA:364055
HP:0011342	Mild global developmental delay	55812	SPATA7	ORPHA:364055
HP:0011342	Mild global developmental delay	6121	RPE65	ORPHA:364055
HP:0011342	Mild global developmental delay	167691	LCA5	ORPHA:364055
HP:0011342	Mild global developmental delay	80232	WDR26	ORPHA:513456
HP:0011342	Mild global developmental delay	213	ALB	ORPHA:86816
HP:0011342	Mild global developmental delay	5932	RBBP8	OMIM:606744
HP:0011342	Mild global developmental delay	5932	RBBP8	ORPHA:808
HP:0011342	Mild global developmental delay	6658	SOX3	ORPHA:67045
HP:0011342	Mild global developmental delay	4841	NONO	OMIM:300967
HP:0011342	Mild global developmental delay	51163	DBR1	OMIM:619441
HP:0011342	Mild global developmental delay	443	ASPA	ORPHA:314918
HP:0011342	Mild global developmental delay	4780	NFE2L2	OMIM:617744
HP:0011342	Mild global developmental delay	10157	AASS	ORPHA:2203
HP:0011342	Mild global developmental delay	5184	PEPD	OMIM:170100
HP:0011342	Mild global developmental delay	6662	SOX9	OMIM:114290
HP:0011342	Mild global developmental delay	3767	KCNJ11	ORPHA:79134
HP:0011342	Mild global developmental delay	79731	NARS2	ORPHA:79134
HP:0011342	Mild global developmental delay	6833	ABCC8	ORPHA:79134
HP:0011342	Mild global developmental delay	5354	PLP1	ORPHA:280229
HP:0011342	Mild global developmental delay	9382	COG1	OMIM:611209
HP:0011342	Mild global developmental delay	9382	COG1	ORPHA:263508
HP:0011342	Mild global developmental delay	338657	CENATAC	OMIM:620153
HP:0011342	Mild global developmental delay	4131	MAP1B	OMIM:618918
HP:0011342	Mild global developmental delay	4693	NDP	ORPHA:891
HP:0011342	Mild global developmental delay	1499	CTNNB1	ORPHA:891
HP:0011342	Mild global developmental delay	23554	TSPAN12	ORPHA:891
HP:0011342	Mild global developmental delay	79797	ZNF408	ORPHA:891
HP:0011342	Mild global developmental delay	8322	FZD4	ORPHA:891
HP:0011342	Mild global developmental delay	3376	IARS1	ORPHA:541423
HP:0011342	Mild global developmental delay	545	ATR	ORPHA:808
HP:0011342	Mild global developmental delay	1062	CENPE	ORPHA:808
HP:0011342	Mild global developmental delay	5116	PCNT	ORPHA:808
HP:0011342	Mild global developmental delay	79902	NUP85	ORPHA:808
HP:0011342	Mild global developmental delay	84126	ATRIP	ORPHA:808
HP:0011342	Mild global developmental delay	55835	CENPJ	ORPHA:808
HP:0011342	Mild global developmental delay	10293	TRAIP	ORPHA:808
HP:0011342	Mild global developmental delay	22995	CEP152	ORPHA:808
HP:0011342	Mild global developmental delay	10733	PLK4	ORPHA:808
HP:0011342	Mild global developmental delay	5257	PHKB	ORPHA:79240
HP:0011342	Mild global developmental delay	256297	PTF1A	OMIM:615935
HP:0011342	Mild global developmental delay	81615	TMEM163	OMIM:620243
HP:0011342	Mild global developmental delay	54704	PDP1	ORPHA:79246
HP:0011342	Mild global developmental delay	4566	MT-TK	ORPHA:1349
HP:0011342	Mild global developmental delay	8546	AP3B1	OMIM:608233
HP:0011342	Mild global developmental delay	20	ABCA2	OMIM:618808
HP:0011342	Mild global developmental delay	128989	TANGO2	ORPHA:480864
HP:0011342	Mild global developmental delay	506	ATP5F1B	OMIM:620085
HP:0011342	Mild global developmental delay	2697	GJA1	ORPHA:2710
HP:0011342	Mild global developmental delay	2697	GJA1	OMIM:257850
HP:0011342	Mild global developmental delay	1513	CTSK	ORPHA:763
HP:0011342	Mild global developmental delay	9496	TBX4	ORPHA:261279
HP:0011342	Mild global developmental delay	56160	NSMCE3	OMIM:617241
HP:0011342	Mild global developmental delay	5442	POLRMT	OMIM:619743
HP:0011342	Mild global developmental delay	7156	TOP3A	OMIM:618097
HP:0011342	Mild global developmental delay	7174	TPP2	OMIM:619220
HP:0011342	Mild global developmental delay	55780	ERMARD	OMIM:615544
HP:0011342	Mild global developmental delay	60	ACTB	OMIM:607371
HP:0011342	Mild global developmental delay	2783	GNB2	OMIM:619503
HP:0011342	Mild global developmental delay	5573	PRKAR1A	OMIM:101800
HP:0011342	Mild global developmental delay	165918	RNF168	OMIM:611943
HP:0011342	Mild global developmental delay	58499	ZNF462	OMIM:618619
HP:0011342	Mild global developmental delay	990	CDC6	OMIM:613805
HP:0011342	Mild global developmental delay	27034	ACAD8	ORPHA:79159
HP:0011341	Long upper lip	129563	DIS3L2	OMIM:267000
HP:0011341	Long upper lip	79718	TBL1XR1	OMIM:602342
HP:0011341	Long upper lip	79718	TBL1XR1	ORPHA:487825
HP:0011341	Long upper lip	9401	RECQL4	OMIM:218600
HP:0011341	Long upper lip	170302	ARX	OMIM:300215
HP:0011341	Long upper lip	2334	AFF2	OMIM:309548
HP:0011341	Long upper lip	23233	EXOC6B	ORPHA:93359
HP:0011341	Long upper lip	126792	B3GALT6	ORPHA:93359
HP:0011341	Long upper lip	126792	B3GALT6	OMIM:615349
HP:0011341	Long upper lip	126792	B3GALT6	OMIM:271640
HP:0011341	Long upper lip	55343	SLC35C1	ORPHA:99843
HP:0011341	Long upper lip	7227	TRPS1	ORPHA:77258
HP:0011340	Incomplete cleft of the upper lip	65250	CPLANE1	OMIM:277170
HP:0011340	Incomplete cleft of the upper lip	153241	CEP120	OMIM:616300
HP:0001132	Lens subluxation	80781	COL18A1	OMIM:267750
HP:0001132	Lens subluxation	444	ASPH	OMIM:601552
HP:0001132	Lens subluxation	4016	LOXL1	OMIM:177650
HP:0001132	Lens subluxation	26610	ELP4	OMIM:617141
HP:0001132	Lens subluxation	55214	P3H2	OMIM:614292
HP:0001132	Lens subluxation	5130	PCYT1A	ORPHA:85167
HP:0001132	Lens subluxation	91851	CHRDL1	OMIM:309300
HP:0001132	Lens subluxation	875	CBS	OMIM:236200
HP:0001132	Lens subluxation	6297	SALL2	OMIM:216820
HP:0001132	Lens subluxation	1280	COL2A1	ORPHA:93296
HP:0001132	Lens subluxation	8314	BAP1	ORPHA:39044
HP:0001132	Lens subluxation	57105	CYSLTR2	ORPHA:39044
HP:0001132	Lens subluxation	2776	GNAQ	ORPHA:39044
HP:0001132	Lens subluxation	2767	GNA11	ORPHA:39044
HP:0001132	Lens subluxation	23451	SF3B1	ORPHA:39044
HP:0001133	Constriction of peripheral visual field	50964	SOST	OMIM:269500
HP:0001133	Constriction of peripheral visual field	7287	TULP1	OMIM:600132
HP:0001133	Constriction of peripheral visual field	7287	TULP1	OMIM:613843
HP:0001133	Constriction of peripheral visual field	26160	IFT172	OMIM:619471
HP:0001133	Constriction of peripheral visual field	26121	PRPF31	OMIM:600138
HP:0001133	Constriction of peripheral visual field	10594	PRPF8	OMIM:600059
HP:0001133	Constriction of peripheral visual field	1121	CHM	OMIM:303100
HP:0001133	Constriction of peripheral visual field	5949	RBP3	OMIM:615233
HP:0001133	Constriction of peripheral visual field	5949	RBP3	OMIM:268000
HP:0001133	Constriction of peripheral visual field	583	BBS2	OMIM:616562
HP:0001133	Constriction of peripheral visual field	22901	ARSG	OMIM:618144
HP:0001133	Constriction of peripheral visual field	285440	CYP4V2	ORPHA:41751
HP:0001133	Constriction of peripheral visual field	285440	CYP4V2	OMIM:210370
HP:0001133	Constriction of peripheral visual field	6295	SAG	OMIM:620228
HP:0001133	Constriction of peripheral visual field	84839	RAX2	OMIM:620102
HP:0001133	Constriction of peripheral visual field	23600	AMACR	OMIM:614307
HP:0001133	Constriction of peripheral visual field	5961	PRPH2	OMIM:608133
HP:0001133	Constriction of peripheral visual field	6094	ROM1	OMIM:608133
HP:0001133	Constriction of peripheral visual field	6094	ROM1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	10059	DNM1L	OMIM:610708
HP:0001133	Constriction of peripheral visual field	84100	ARL6	OMIM:268000
HP:0001133	Constriction of peripheral visual field	9227	LRAT	OMIM:268000
HP:0001133	Constriction of peripheral visual field	7401	CLRN1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	5148	PDE6G	OMIM:268000
HP:0001133	Constriction of peripheral visual field	5148	PDE6G	OMIM:613582
HP:0001133	Constriction of peripheral visual field	1259	CNGA1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	23746	AIPL1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	1406	CRX	OMIM:268000
HP:0001133	Constriction of peripheral visual field	1406	CRX	OMIM:120970
HP:0001133	Constriction of peripheral visual field	157657	CFAP418	OMIM:268000
HP:0001133	Constriction of peripheral visual field	157657	CFAP418	OMIM:617406
HP:0001133	Constriction of peripheral visual field	6101	RP1	OMIM:180100
HP:0001133	Constriction of peripheral visual field	3098	HK1	OMIM:617460
HP:0001133	Constriction of peripheral visual field	92211	CDHR1	OMIM:613660
HP:0001133	Constriction of peripheral visual field	3420	IDH3B	OMIM:612572
HP:0001133	Constriction of peripheral visual field	24148	PRPF6	OMIM:613983
HP:0001133	Constriction of peripheral visual field	92840	REEP6	OMIM:617304
HP:0001133	Constriction of peripheral visual field	10461	MERTK	OMIM:613862
HP:0001133	Constriction of peripheral visual field	79947	DHDDS	OMIM:613861
HP:0001133	Constriction of peripheral visual field	9128	PRPF4	OMIM:615922
HP:0001133	Constriction of peripheral visual field	3419	IDH3A	OMIM:619007
HP:0001133	Constriction of peripheral visual field	57545	CC2D2A	OMIM:619845
HP:0001133	Constriction of peripheral visual field	9371	KIF3B	OMIM:618955
HP:0001133	Constriction of peripheral visual field	93589	CACNA2D4	OMIM:610478
HP:0001133	Constriction of peripheral visual field	84140	FAM161A	OMIM:606068
HP:0001133	Constriction of peripheral visual field	5191	PEX7	OMIM:614879
HP:0001133	Constriction of peripheral visual field	4942	OAT	ORPHA:414
HP:0001133	Constriction of peripheral visual field	55670	PEX26	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5824	PEX19	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5828	PEX2	ORPHA:772
HP:0001133	Constriction of peripheral visual field	8504	PEX3	ORPHA:772
HP:0001133	Constriction of peripheral visual field	9409	PEX16	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5190	PEX6	ORPHA:772
HP:0001133	Constriction of peripheral visual field	8799	PEX11B	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5830	PEX5	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5189	PEX1	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5193	PEX12	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5194	PEX13	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5195	PEX14	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5192	PEX10	ORPHA:772
HP:0001133	Constriction of peripheral visual field	346007	EYS	OMIM:602772
HP:0001133	Constriction of peripheral visual field	6452	SH3BP2	OMIM:118400
HP:0001133	Constriction of peripheral visual field	326	AIRE	OMIM:240300
HP:0001133	Constriction of peripheral visual field	79797	ZNF408	OMIM:616469
HP:0001133	Constriction of peripheral visual field	282809	POC1B	OMIM:615973
HP:0001133	Constriction of peripheral visual field	4901	NRL	OMIM:613750
HP:0001133	Constriction of peripheral visual field	10002	NR2E3	OMIM:611131
HP:0001133	Constriction of peripheral visual field	8565	YARS1	OMIM:619418
HP:0001133	Constriction of peripheral visual field	64834	ELOVL1	OMIM:618527
HP:0001133	Constriction of peripheral visual field	138050	HGSNAT	OMIM:616544
HP:0001133	Constriction of peripheral visual field	2779	GNAT1	OMIM:616389
HP:0001133	Constriction of peripheral visual field	80201	HKDC1	OMIM:619614
HP:0001133	Constriction of peripheral visual field	6100	RP9	OMIM:180104
HP:0001133	Constriction of peripheral visual field	55812	SPATA7	OMIM:604232
HP:0001133	Constriction of peripheral visual field	7840	ALMS1	OMIM:203800
HP:0001133	Constriction of peripheral visual field	6102	RP2	OMIM:312600
HP:0001133	Constriction of peripheral visual field	84233	TMEM126A	OMIM:612989
HP:0001133	Constriction of peripheral visual field	4508	MT-ATP6	ORPHA:644
HP:0001133	Constriction of peripheral visual field	3614	IMPDH1	OMIM:180105
HP:0001133	Constriction of peripheral visual field	1678	TIMM8A	OMIM:304700
HP:0001133	Constriction of peripheral visual field	403	ARL3	OMIM:618173
HP:0001133	Constriction of peripheral visual field	6103	RPGR	OMIM:300029
HP:0001133	Constriction of peripheral visual field	8481	OFD1	OMIM:300424
HP:0001133	Constriction of peripheral visual field	24	ABCA4	OMIM:601718
HP:0001133	Constriction of peripheral visual field	55857	KIZ	OMIM:615780
HP:0001133	Constriction of peripheral visual field	55624	POMGNT1	OMIM:617123
HP:0001133	Constriction of peripheral visual field	51109	RDH11	ORPHA:436245
HP:0001133	Constriction of peripheral visual field	375298	CERKL	OMIM:608380
HP:0001133	Constriction of peripheral visual field	5995	RGR	OMIM:613769
HP:0001133	Constriction of peripheral visual field	4976	OPA1	ORPHA:1215
HP:0001133	Constriction of peripheral visual field	6389	SDHA	OMIM:619259
HP:0001133	Constriction of peripheral visual field	50484	RRM2B	OMIM:268315
HP:0001133	Constriction of peripheral visual field	64218	SEMA4A	OMIM:610283
HP:0001133	Constriction of peripheral visual field	3423	IDS	ORPHA:217085
HP:0001133	Constriction of peripheral visual field	3423	IDS	ORPHA:217093
HP:0001133	Constriction of peripheral visual field	79140	CCDC28B	OMIM:209900
HP:0001133	Constriction of peripheral visual field	582	BBS1	OMIM:209900
HP:0001133	Constriction of peripheral visual field	6533	SLC6A6	OMIM:145350
HP:0001133	Constriction of peripheral visual field	5145	PDE6A	OMIM:613810
HP:0001133	Constriction of peripheral visual field	10283	CWC27	OMIM:250410
HP:0001133	Constriction of peripheral visual field	130557	ZNF513	OMIM:613617
HP:0001133	Constriction of peripheral visual field	1737	DLAT	ORPHA:79244
HP:0001133	Constriction of peripheral visual field	3000	GUCY2D	OMIM:601777
HP:0001133	Constriction of peripheral visual field	6017	RLBP1	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	6010	RHO	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	5959	RDH5	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	6121	RPE65	ORPHA:364055
HP:0001133	Constriction of peripheral visual field	6121	RPE65	OMIM:618697
HP:0001133	Constriction of peripheral visual field	167691	LCA5	ORPHA:364055
HP:0001133	Constriction of peripheral visual field	9742	IFT140	OMIM:266920
HP:0001133	Constriction of peripheral visual field	100151683	RNU4ATAC	OMIM:226960
HP:0001133	Constriction of peripheral visual field	8842	PROM1	OMIM:612095
HP:0001133	Constriction of peripheral visual field	60509	AGBL5	OMIM:617023
HP:0001133	Constriction of peripheral visual field	79628	SH3TC2	ORPHA:99949
HP:0001133	Constriction of peripheral visual field	1258	CNGB1	OMIM:613767
HP:0001133	Constriction of peripheral visual field	2202	EFEMP1	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	1545	CYP1B1	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	4653	MYOC	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	5456	POU3F4	ORPHA:1435
HP:0001134	Anterior polar cataract	9653	HS2ST1	OMIM:619194
HP:0001134	Anterior polar cataract	3299	HSF4	OMIM:116800
HP:0001134	Anterior polar cataract	10682	EBP	OMIM:300960
HP:0001134	Anterior polar cataract	406960	MIR184	OMIM:614303
HP:0001134	Anterior polar cataract	1285	COL4A3	OMIM:104200
HP:0001134	Anterior polar cataract	57551	TAOK1	OMIM:619575
HP:0001134	Anterior polar cataract	1419	CRYGB	OMIM:615188
HP:0001135	Chorioretinal dystrophy	10908	PNPLA6	OMIM:215470
HP:0001135	Chorioretinal dystrophy	10908	PNPLA6	ORPHA:1180
HP:0001135	Chorioretinal dystrophy	89910	UBE3B	ORPHA:2707
HP:0001135	Chorioretinal dystrophy	157680	VPS13B	ORPHA:193
HP:0001135	Chorioretinal dystrophy	157680	VPS13B	OMIM:216550
HP:0001136	Retinal arteriolar tortuosity	84168	ANTXR1	OMIM:230740
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:180000
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:611773
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:175780
HP:0001136	Retinal arteriolar tortuosity	6804	STX1A	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	7461	CLIP2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	84277	DNAJC30	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	8468	FKBP6	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	5982	RFC2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2969	GTF2I	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	3984	LIMK1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	9569	GTF2IRD1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	155382	VPS37D	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	155368	METTL27	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	114049	BUD23	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	7458	EIF4H	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	84163	GTF2IRD2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	9275	BCL7B	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	26608	TBL2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	653361	NCF1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	135886	TMEM270	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	51085	MLXIPL	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	51085	MLXIPL	OMIM:194050
HP:0001136	Retinal arteriolar tortuosity	9031	BAZ1B	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2006	ELN	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2006	ELN	OMIM:194050
HP:0001136	Retinal arteriolar tortuosity	4693	NDP	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	4041	LRP5	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	8322	FZD4	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	4508	MT-ATP6	ORPHA:644
HP:0001136	Retinal arteriolar tortuosity	1312	COMT	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	221037	JMJD1C	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	2812	GP1BB	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	6239	RREB1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	6899	TBX1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	7290	HIRA	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	9632	SEC24C	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	7353	UFD1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	421	ARVCF	ORPHA:567
HP:0001137	Alternating esotropia	1804	DPP6	ORPHA:2514
HP:0001137	Alternating esotropia	4001	LMNB1	ORPHA:2514
HP:0001137	Alternating esotropia	1185	CLCN6	OMIM:619173
HP:0001137	Alternating esotropia	84342	COG8	ORPHA:95428
HP:0001137	Alternating esotropia	84342	COG8	OMIM:611182
HP:0001137	Alternating esotropia	8777	MPDZ	OMIM:615219
HP:0001137	Alternating esotropia	324	APC	ORPHA:99818
HP:0001137	Alternating esotropia	146167	SLC38A8	OMIM:609218
HP:0001137	Alternating esotropia	9578	CDC42BPB	OMIM:619841
HP:0001137	Alternating esotropia	5528	PPP2R5D	ORPHA:457279
HP:0001137	Alternating esotropia	92255	LMBRD2	OMIM:619694
HP:0001138	Optic neuropathy	1822	ATN1	ORPHA:101
HP:0001138	Optic neuropathy	3949	LDLR	ORPHA:391665
HP:0001138	Optic neuropathy	255738	PCSK9	ORPHA:391665
HP:0001138	Optic neuropathy	26119	LDLRAP1	ORPHA:391665
HP:0001138	Optic neuropathy	338	APOB	ORPHA:391665
HP:0001138	Optic neuropathy	64240	ABCG5	ORPHA:391665
HP:0001138	Optic neuropathy	64241	ABCG8	ORPHA:391665
HP:0001138	Optic neuropathy	3123	HLA-DRB1	OMIM:181000
HP:0001138	Optic neuropathy	493856	CISD2	OMIM:604928
HP:0001138	Optic neuropathy	54539	NDUFB11	ORPHA:2609
HP:0001138	Optic neuropathy	25915	NDUFAF3	ORPHA:2609
HP:0001138	Optic neuropathy	51103	NDUFAF1	ORPHA:2609
HP:0001138	Optic neuropathy	91942	NDUFAF2	ORPHA:2609
HP:0001138	Optic neuropathy	51300	TIMMDC1	ORPHA:2609
HP:0001138	Optic neuropathy	4716	NDUFB10	ORPHA:2609
HP:0001138	Optic neuropathy	4723	NDUFV1	ORPHA:2609
HP:0001138	Optic neuropathy	55572	FOXRED1	ORPHA:2609
HP:0001138	Optic neuropathy	284184	NDUFAF8	ORPHA:2609
HP:0001138	Optic neuropathy	55863	TMEM126B	ORPHA:2609
HP:0001138	Optic neuropathy	4535	MT-ND1	ORPHA:2609
HP:0001138	Optic neuropathy	4535	MT-ND1	OMIM:535000
HP:0001138	Optic neuropathy	4537	MT-ND3	ORPHA:2609
HP:0001138	Optic neuropathy	4729	NDUFV2	ORPHA:2609
HP:0001138	Optic neuropathy	4694	NDUFA1	ORPHA:2609
HP:0001138	Optic neuropathy	4720	NDUFS2	ORPHA:2609
HP:0001138	Optic neuropathy	4724	NDUFS4	ORPHA:2609
HP:0001138	Optic neuropathy	4724	NDUFS4	OMIM:252010
HP:0001138	Optic neuropathy	4726	NDUFS6	ORPHA:2609
HP:0001138	Optic neuropathy	4728	NDUFS8	ORPHA:2609
HP:0001138	Optic neuropathy	4722	NDUFS3	ORPHA:2609
HP:0001138	Optic neuropathy	79133	NDUFAF5	ORPHA:2609
HP:0001138	Optic neuropathy	126328	NDUFA11	ORPHA:2609
HP:0001138	Optic neuropathy	4709	NDUFB3	ORPHA:2609
HP:0001138	Optic neuropathy	80224	NUBPL	ORPHA:2609
HP:0001138	Optic neuropathy	29078	NDUFAF4	ORPHA:2609
HP:0001138	Optic neuropathy	374291	NDUFS7	ORPHA:2609
HP:0001138	Optic neuropathy	4700	NDUFA6	ORPHA:2609
HP:0001138	Optic neuropathy	4536	MT-ND2	ORPHA:2609
HP:0001138	Optic neuropathy	4536	MT-ND2	OMIM:535000
HP:0001138	Optic neuropathy	4719	NDUFS1	ORPHA:2609
HP:0001138	Optic neuropathy	4715	NDUFB9	ORPHA:2609
HP:0001138	Optic neuropathy	6452	SH3BP2	OMIM:118400
HP:0001138	Optic neuropathy	91574	MTRFR	ORPHA:320375
HP:0001138	Optic neuropathy	1181	CLCN2	OMIM:615651
HP:0001138	Optic neuropathy	25828	TXN2	ORPHA:478029
HP:0001138	Optic neuropathy	25828	TXN2	OMIM:616811
HP:0001138	Optic neuropathy	1593	CYP27A1	ORPHA:909
HP:0001138	Optic neuropathy	79639	TMEM53	OMIM:619727
HP:0001138	Optic neuropathy	189	AGXT	OMIM:259900
HP:0001138	Optic neuropathy	51079	NDUFA13	OMIM:618249
HP:0001138	Optic neuropathy	55717	WDR11	OMIM:620237
HP:0001138	Optic neuropathy	686	BTD	ORPHA:79241
HP:0001138	Optic neuropathy	2202	EFEMP1	ORPHA:98977
HP:0001138	Optic neuropathy	1545	CYP1B1	ORPHA:98977
HP:0001138	Optic neuropathy	4653	MYOC	ORPHA:98977
HP:0001138	Optic neuropathy	4514	MT-CO3	OMIM:535000
HP:0001138	Optic neuropathy	4519	MT-CYB	OMIM:535000
HP:0001138	Optic neuropathy	4541	MT-ND6	OMIM:535000
HP:0001138	Optic neuropathy	4540	MT-ND5	OMIM:535000
HP:0001138	Optic neuropathy	4508	MT-ATP6	OMIM:535000
HP:0001138	Optic neuropathy	4539	MT-ND4L	OMIM:535000
HP:0001138	Optic neuropathy	4538	MT-ND4	OMIM:535000
HP:0001138	Optic neuropathy	10102	TSFM	OMIM:610505
HP:0001138	Optic neuropathy	2811	GP1BA	OMIM:258660
HP:0001138	Optic neuropathy	4854	NOTCH3	OMIM:125310
HP:0001139	Choroideremia	7439	BEST1	ORPHA:1243
HP:0001139	Choroideremia	7439	BEST1	ORPHA:99000
HP:0001139	Choroideremia	5961	PRPH2	ORPHA:99000
HP:0001139	Choroideremia	50939	IMPG2	ORPHA:99000
HP:0001139	Choroideremia	3617	IMPG1	ORPHA:99000
HP:0001139	Choroideremia	89910	UBE3B	ORPHA:2707
HP:0001139	Choroideremia	1121	CHM	OMIM:303100
HP:0001139	Choroideremia	1969	EPHA2	OMIM:116600
HP:0001139	Choroideremia	5456	POU3F4	ORPHA:1435
HP:0100886	Abnormality of globe location	8216	LZTR1	OMIM:616564
HP:0100886	Abnormality of globe location	8216	LZTR1	OMIM:605275
HP:0100886	Abnormality of globe location	8216	LZTR1	ORPHA:648
HP:0100886	Abnormality of globe location	54101	RIPK4	ORPHA:1401
HP:0100886	Abnormality of globe location	54101	RIPK4	OMIM:263650
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:149730
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:168624
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:123790
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:794
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:123500
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:87
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:93260
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:93258
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:93259
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:614592
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:101400
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:101200
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:207
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:313855
HP:0100886	Abnormality of globe location	2263	FGFR2	OMIM:101600
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:1555
HP:0100886	Abnormality of globe location	2263	FGFR2	ORPHA:1540
HP:0100886	Abnormality of globe location	4897	NRCAM	OMIM:619833
HP:0100886	Abnormality of globe location	7021	TFAP2B	OMIM:169100
HP:0100886	Abnormality of globe location	7021	TFAP2B	ORPHA:46627
HP:0100886	Abnormality of globe location	2261	FGFR3	ORPHA:53271
HP:0100886	Abnormality of globe location	2261	FGFR3	ORPHA:794
HP:0100886	Abnormality of globe location	2261	FGFR3	ORPHA:93262
HP:0100886	Abnormality of globe location	2261	FGFR3	OMIM:602849
HP:0100886	Abnormality of globe location	2261	FGFR3	ORPHA:35099
HP:0100886	Abnormality of globe location	2261	FGFR3	OMIM:612247
HP:0100886	Abnormality of globe location	1788	DNMT3A	ORPHA:404443
HP:0100886	Abnormality of globe location	1788	DNMT3A	OMIM:615879
HP:0100886	Abnormality of globe location	51	ACOX1	ORPHA:2971
HP:0100886	Abnormality of globe location	51	ACOX1	OMIM:264470
HP:0100886	Abnormality of globe location	1836	SLC26A2	ORPHA:56304
HP:0100886	Abnormality of globe location	1836	SLC26A2	ORPHA:628
HP:0100886	Abnormality of globe location	4125	MAN2B1	ORPHA:309282
HP:0100886	Abnormality of globe location	6662	SOX9	ORPHA:140
HP:0100886	Abnormality of globe location	6662	SOX9	OMIM:114290
HP:0100886	Abnormality of globe location	9578	CDC42BPB	OMIM:619841
HP:0100886	Abnormality of globe location	2737	GLI3	ORPHA:380
HP:0100886	Abnormality of globe location	2737	GLI3	ORPHA:36
HP:0100886	Abnormality of globe location	2737	GLI3	ORPHA:672
HP:0100886	Abnormality of globe location	2737	GLI3	OMIM:175700
HP:0100886	Abnormality of globe location	1855	DVL1	OMIM:616331
HP:0100886	Abnormality of globe location	1855	DVL1	OMIM:180700
HP:0100886	Abnormality of globe location	1855	DVL1	ORPHA:3107
HP:0100886	Abnormality of globe location	5184	PEPD	OMIM:170100
HP:0100886	Abnormality of globe location	5184	PEPD	ORPHA:742
HP:0100886	Abnormality of globe location	126792	B3GALT6	ORPHA:2725
HP:0100886	Abnormality of globe location	55690	PACS1	OMIM:615009
HP:0100886	Abnormality of globe location	55690	PACS1	ORPHA:329224
HP:0100886	Abnormality of globe location	2132	EXT2	ORPHA:466926
HP:0100886	Abnormality of globe location	2132	EXT2	OMIM:616682
HP:0100886	Abnormality of globe location	84520	GON7	OMIM:619603
HP:0100886	Abnormality of globe location	57082	KNL1	OMIM:604321
HP:0100886	Abnormality of globe location	79158	GNPTAB	OMIM:252500
HP:0100886	Abnormality of globe location	55636	CHD7	ORPHA:138
HP:0100886	Abnormality of globe location	55636	CHD7	OMIM:214800
HP:0100886	Abnormality of globe location	55636	CHD7	ORPHA:432
HP:0100886	Abnormality of globe location	9723	SEMA3E	ORPHA:138
HP:0100886	Abnormality of globe location	55650	PIGV	OMIM:239300
HP:0100886	Abnormality of globe location	55650	PIGV	ORPHA:247262
HP:0100886	Abnormality of globe location	79868	ALG13	ORPHA:324422
HP:0100886	Abnormality of globe location	79868	ALG13	OMIM:300884
HP:0100886	Abnormality of globe location	113189	CHST14	ORPHA:2953
HP:0100886	Abnormality of globe location	113189	CHST14	OMIM:601776
HP:0100886	Abnormality of globe location	29940	DSE	ORPHA:2953
HP:0100886	Abnormality of globe location	29940	DSE	OMIM:615539
HP:0100886	Abnormality of globe location	10606	PAICS	OMIM:619859
HP:0100886	Abnormality of globe location	64359	NXN	OMIM:618529
HP:0100886	Abnormality of globe location	64359	NXN	ORPHA:1507
HP:0100886	Abnormality of globe location	9968	MED12	ORPHA:93932
HP:0100886	Abnormality of globe location	9968	MED12	OMIM:305450
HP:0100886	Abnormality of globe location	9968	MED12	OMIM:300895
HP:0100886	Abnormality of globe location	81857	MED25	ORPHA:464738
HP:0100886	Abnormality of globe location	81857	MED25	OMIM:616449
HP:0100886	Abnormality of globe location	158326	FREM1	ORPHA:2717
HP:0100886	Abnormality of globe location	158326	FREM1	OMIM:248450
HP:0100886	Abnormality of globe location	158326	FREM1	OMIM:614485
HP:0100886	Abnormality of globe location	9401	RECQL4	OMIM:218600
HP:0100886	Abnormality of globe location	9401	RECQL4	OMIM:268400
HP:0100886	Abnormality of globe location	9401	RECQL4	ORPHA:1225
HP:0100886	Abnormality of globe location	171023	ASXL1	ORPHA:97297
HP:0100886	Abnormality of globe location	171023	ASXL1	OMIM:605039
HP:0100886	Abnormality of globe location	10484	SEC23A	OMIM:607812
HP:0100886	Abnormality of globe location	10484	SEC23A	ORPHA:50814
HP:0100886	Abnormality of globe location	23347	SMCHD1	OMIM:603457
HP:0100886	Abnormality of globe location	1500	CTNND1	OMIM:617681
HP:0100886	Abnormality of globe location	1500	CTNND1	ORPHA:1997
HP:0100886	Abnormality of globe location	4330	MN1	OMIM:618774
HP:0100886	Abnormality of globe location	8036	SHOC2	ORPHA:2701
HP:0100886	Abnormality of globe location	8036	SHOC2	OMIM:607721
HP:0100886	Abnormality of globe location	5500	PPP1CB	ORPHA:2701
HP:0100886	Abnormality of globe location	5500	PPP1CB	OMIM:617506
HP:0100886	Abnormality of globe location	6602	SMARCD1	OMIM:618779
HP:0100886	Abnormality of globe location	10716	TBR1	ORPHA:1617
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:90650
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:90652
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:1826
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:555877
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:309350
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:305620
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:304120
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:88630
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:314400
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:300244
HP:0100886	Abnormality of globe location	2316	FLNA	ORPHA:2484
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:311300
HP:0100886	Abnormality of globe location	2316	FLNA	OMIM:300048
HP:0100886	Abnormality of globe location	11285	B4GALT7	OMIM:130070
HP:0100886	Abnormality of globe location	5518	PPP2R1A	OMIM:616362
HP:0100886	Abnormality of globe location	5518	PPP2R1A	ORPHA:457284
HP:0100886	Abnormality of globe location	1186	CLCN7	OMIM:618541
HP:0100886	Abnormality of globe location	55768	NGLY1	OMIM:615273
HP:0100886	Abnormality of globe location	23512	SUZ12	OMIM:618786
HP:0100886	Abnormality of globe location	23512	SUZ12	ORPHA:3447
HP:0100886	Abnormality of globe location	3590	IL11RA	OMIM:614188
HP:0100886	Abnormality of globe location	23126	POGZ	OMIM:616364
HP:0100886	Abnormality of globe location	23126	POGZ	ORPHA:468678
HP:0100886	Abnormality of globe location	57680	CHD8	OMIM:615032
HP:0100886	Abnormality of globe location	8558	CDK10	OMIM:617694
HP:0100886	Abnormality of globe location	27125	AFF4	OMIM:616368
HP:0100886	Abnormality of globe location	116115	ZNF526	OMIM:619877
HP:0100886	Abnormality of globe location	79770	TXNDC15	OMIM:619879
HP:0100886	Abnormality of globe location	79770	TXNDC15	ORPHA:564
HP:0100886	Abnormality of globe location	5979	RET	ORPHA:1848
HP:0100886	Abnormality of globe location	8516	ITGA8	ORPHA:1848
HP:0100886	Abnormality of globe location	8516	ITGA8	OMIM:191830
HP:0100886	Abnormality of globe location	26281	FGF20	ORPHA:1848
HP:0100886	Abnormality of globe location	2674	GFRA1	ORPHA:1848
HP:0100886	Abnormality of globe location	7484	WNT9B	ORPHA:1848
HP:0100886	Abnormality of globe location	80000	GREB1L	ORPHA:1848
HP:0100886	Abnormality of globe location	54828	BCAS3	OMIM:619641
HP:0100886	Abnormality of globe location	30813	VSX1	OMIM:614195
HP:0100886	Abnormality of globe location	83479	DDX59	ORPHA:2919
HP:0100886	Abnormality of globe location	83479	DDX59	OMIM:174300
HP:0100886	Abnormality of globe location	79633	FAT4	ORPHA:314679
HP:0100886	Abnormality of globe location	79633	FAT4	ORPHA:2136
HP:0100886	Abnormality of globe location	79633	FAT4	OMIM:616006
HP:0100886	Abnormality of globe location	79633	FAT4	OMIM:615546
HP:0100886	Abnormality of globe location	8642	DCHS1	ORPHA:314679
HP:0100886	Abnormality of globe location	8642	DCHS1	OMIM:601390
HP:0100886	Abnormality of globe location	79728	PALB2	OMIM:610832
HP:0100886	Abnormality of globe location	79728	PALB2	ORPHA:84
HP:0100886	Abnormality of globe location	57688	ZSWIM6	OMIM:603671
HP:0100886	Abnormality of globe location	57688	ZSWIM6	ORPHA:1827
HP:0100886	Abnormality of globe location	3930	LBR	OMIM:215140
HP:0100886	Abnormality of globe location	3930	LBR	OMIM:169400
HP:0100886	Abnormality of globe location	8643	PTCH2	ORPHA:377
HP:0100886	Abnormality of globe location	2239	GPC4	ORPHA:373
HP:0100886	Abnormality of globe location	2239	GPC4	OMIM:301026
HP:0100886	Abnormality of globe location	2239	GPC4	OMIM:312870
HP:0100886	Abnormality of globe location	2239	GPC4	ORPHA:2662
HP:0100886	Abnormality of globe location	2719	GPC3	ORPHA:373
HP:0100886	Abnormality of globe location	2719	GPC3	OMIM:312870
HP:0100886	Abnormality of globe location	23483	TGDS	OMIM:616145
HP:0100886	Abnormality of globe location	23483	TGDS	ORPHA:1388
HP:0100886	Abnormality of globe location	84168	ANTXR1	OMIM:230740
HP:0100886	Abnormality of globe location	84168	ANTXR1	ORPHA:2067
HP:0100886	Abnormality of globe location	64919	BCL11B	OMIM:617237
HP:0100886	Abnormality of globe location	64919	BCL11B	OMIM:618092
HP:0100886	Abnormality of globe location	2720	GLB1	OMIM:230500
HP:0100886	Abnormality of globe location	23499	MACF1	OMIM:618325
HP:0100886	Abnormality of globe location	6885	MAP3K7	ORPHA:1826
HP:0100886	Abnormality of globe location	6885	MAP3K7	OMIM:157800
HP:0100886	Abnormality of globe location	6885	MAP3K7	OMIM:617137
HP:0100886	Abnormality of globe location	6135	RPL11	ORPHA:124
HP:0100886	Abnormality of globe location	6138	RPL15	ORPHA:124
HP:0100886	Abnormality of globe location	6229	RPS24	ORPHA:124
HP:0100886	Abnormality of globe location	6125	RPL5	ORPHA:124
HP:0100886	Abnormality of globe location	6125	RPL5	OMIM:612561
HP:0100886	Abnormality of globe location	6204	RPS10	ORPHA:124
HP:0100886	Abnormality of globe location	6224	RPS20	ORPHA:124
HP:0100886	Abnormality of globe location	6165	RPL35A	ORPHA:124
HP:0100886	Abnormality of globe location	6165	RPL35A	OMIM:612528
HP:0100886	Abnormality of globe location	2623	GATA1	ORPHA:124
HP:0100886	Abnormality of globe location	6223	RPS19	ORPHA:124
HP:0100886	Abnormality of globe location	6223	RPS19	OMIM:105650
HP:0100886	Abnormality of globe location	6232	RPS27	ORPHA:124
HP:0100886	Abnormality of globe location	6231	RPS26	ORPHA:124
HP:0100886	Abnormality of globe location	11224	RPL35	ORPHA:124
HP:0100886	Abnormality of globe location	6160	RPL31	ORPHA:124
HP:0100886	Abnormality of globe location	6218	RPS17	ORPHA:124
HP:0100886	Abnormality of globe location	6201	RPS7	ORPHA:124
HP:0100886	Abnormality of globe location	6201	RPS7	OMIM:612563
HP:0100886	Abnormality of globe location	6155	RPL27	ORPHA:124
HP:0100886	Abnormality of globe location	6154	RPL26	ORPHA:124
HP:0100886	Abnormality of globe location	6210	RPS15A	ORPHA:124
HP:0100886	Abnormality of globe location	90121	TSR2	ORPHA:124
HP:0100886	Abnormality of globe location	6141	RPL18	ORPHA:124
HP:0100886	Abnormality of globe location	6235	RPS29	ORPHA:124
HP:0100886	Abnormality of globe location	6234	RPS28	ORPHA:124
HP:0100886	Abnormality of globe location	51816	ADA2	ORPHA:124
HP:0100886	Abnormality of globe location	257	ALX3	ORPHA:391474
HP:0100886	Abnormality of globe location	257	ALX3	OMIM:136760
HP:0100886	Abnormality of globe location	25970	SH2B1	ORPHA:261197
HP:0100886	Abnormality of globe location	56160	NSMCE3	OMIM:617241
HP:0100886	Abnormality of globe location	9742	IFT140	OMIM:266920
HP:0100886	Abnormality of globe location	5881	RAC3	OMIM:618577
HP:0100886	Abnormality of globe location	60529	ALX4	ORPHA:228390
HP:0100886	Abnormality of globe location	60529	ALX4	OMIM:609597
HP:0100886	Abnormality of globe location	60529	ALX4	OMIM:613451
HP:0100886	Abnormality of globe location	26173	INTS1	OMIM:618571
HP:0100886	Abnormality of globe location	55656	INTS8	OMIM:618572
HP:0100886	Abnormality of globe location	84188	FAR1	OMIM:616154
HP:0100886	Abnormality of globe location	84188	FAR1	ORPHA:438178
HP:0100886	Abnormality of globe location	7046	TGFBR1	OMIM:609192
HP:0100886	Abnormality of globe location	7046	TGFBR1	ORPHA:60030
HP:0100886	Abnormality of globe location	7046	TGFBR1	ORPHA:91387
HP:0100886	Abnormality of globe location	7291	TWIST1	ORPHA:794
HP:0100886	Abnormality of globe location	7291	TWIST1	OMIM:180750
HP:0100886	Abnormality of globe location	7291	TWIST1	OMIM:101400
HP:0100886	Abnormality of globe location	7291	TWIST1	ORPHA:35099
HP:0100886	Abnormality of globe location	7291	TWIST1	OMIM:617746
HP:0100886	Abnormality of globe location	4088	SMAD3	ORPHA:284984
HP:0100886	Abnormality of globe location	4088	SMAD3	OMIM:613795
HP:0100886	Abnormality of globe location	4088	SMAD3	ORPHA:91387
HP:0100886	Abnormality of globe location	4921	DDR2	OMIM:271665
HP:0100886	Abnormality of globe location	9488	PIGB	OMIM:618580
HP:0100886	Abnormality of globe location	8925	HERC1	OMIM:617011
HP:0100886	Abnormality of globe location	8925	HERC1	ORPHA:457359
HP:0100886	Abnormality of globe location	8473	OGT	OMIM:300997
HP:0100886	Abnormality of globe location	8573	CASK	OMIM:300749
HP:0100886	Abnormality of globe location	8573	CASK	ORPHA:163937
HP:0100886	Abnormality of globe location	8573	CASK	OMIM:300422
HP:0100886	Abnormality of globe location	6418	SET	OMIM:618106
HP:0100886	Abnormality of globe location	51259	TMEM216	OMIM:608091
HP:0100886	Abnormality of globe location	51259	TMEM216	ORPHA:564
HP:0100886	Abnormality of globe location	51259	TMEM216	ORPHA:2754
HP:0100886	Abnormality of globe location	79813	EHMT1	ORPHA:96147
HP:0100886	Abnormality of globe location	79813	EHMT1	OMIM:610253
HP:0100886	Abnormality of globe location	4703	NEB	OMIM:256030
HP:0100886	Abnormality of globe location	4703	NEB	ORPHA:171433
HP:0100886	Abnormality of globe location	4703	NEB	ORPHA:171439
HP:0100886	Abnormality of globe location	5308	PITX2	ORPHA:782
HP:0100886	Abnormality of globe location	2296	FOXC1	ORPHA:782
HP:0100886	Abnormality of globe location	2296	FOXC1	OMIM:602482
HP:0100886	Abnormality of globe location	7372	UMPS	ORPHA:30
HP:0100886	Abnormality of globe location	5515	PPP2CA	OMIM:618354
HP:0100886	Abnormality of globe location	23114	NFASC	OMIM:618356
HP:0100886	Abnormality of globe location	5649	RELN	ORPHA:89844
HP:0100886	Abnormality of globe location	10300	KATNB1	ORPHA:89844
HP:0100886	Abnormality of globe location	54820	NDE1	ORPHA:89844
HP:0100886	Abnormality of globe location	56975	FAM20C	OMIM:259775
HP:0100886	Abnormality of globe location	5934	RBL2	OMIM:619690
HP:0100886	Abnormality of globe location	55777	MBD5	OMIM:156200
HP:0100886	Abnormality of globe location	3039	HBA1	ORPHA:98791
HP:0100886	Abnormality of globe location	3040	HBA2	ORPHA:98791
HP:0100886	Abnormality of globe location	51132	RLIM	OMIM:300978
HP:0100886	Abnormality of globe location	51434	ANAPC7	OMIM:619699
HP:0100886	Abnormality of globe location	7468	NSD2	OMIM:619695
HP:0100886	Abnormality of globe location	7468	NSD2	OMIM:194190
HP:0100886	Abnormality of globe location	7468	NSD2	ORPHA:280
HP:0100886	Abnormality of globe location	551	AVP	OMIM:125700
HP:0100886	Abnormality of globe location	201163	FLCN	OMIM:610883
HP:0100886	Abnormality of globe location	1312	COMT	ORPHA:567
HP:0100886	Abnormality of globe location	221037	JMJD1C	ORPHA:567
HP:0100886	Abnormality of globe location	2812	GP1BB	ORPHA:567
HP:0100886	Abnormality of globe location	6239	RREB1	ORPHA:567
HP:0100886	Abnormality of globe location	6899	TBX1	ORPHA:567
HP:0100886	Abnormality of globe location	6899	TBX1	OMIM:217095
HP:0100886	Abnormality of globe location	6899	TBX1	ORPHA:1727
HP:0100886	Abnormality of globe location	6899	TBX1	OMIM:188400
HP:0100886	Abnormality of globe location	7290	HIRA	ORPHA:567
HP:0100886	Abnormality of globe location	9632	SEC24C	ORPHA:567
HP:0100886	Abnormality of globe location	7353	UFD1	ORPHA:567
HP:0100886	Abnormality of globe location	421	ARVCF	ORPHA:567
HP:0100886	Abnormality of globe location	1009	CDH11	OMIM:211380
HP:0100886	Abnormality of globe location	1009	CDH11	ORPHA:1299
HP:0100886	Abnormality of globe location	1009	CDH11	OMIM:619736
HP:0100886	Abnormality of globe location	84314	TMEM107	ORPHA:564
HP:0100886	Abnormality of globe location	26123	TCTN3	ORPHA:564
HP:0100886	Abnormality of globe location	26123	TCTN3	OMIM:258860
HP:0100886	Abnormality of globe location	26123	TCTN3	ORPHA:2753
HP:0100886	Abnormality of globe location	26123	TCTN3	ORPHA:2754
HP:0100886	Abnormality of globe location	79867	TCTN2	ORPHA:564
HP:0100886	Abnormality of globe location	80776	B9D2	ORPHA:564
HP:0100886	Abnormality of globe location	79600	TCTN1	ORPHA:564
HP:0100886	Abnormality of globe location	57096	RPGRIP1	ORPHA:564
HP:0100886	Abnormality of globe location	79848	CSPP1	ORPHA:564
HP:0100886	Abnormality of globe location	79848	CSPP1	OMIM:615636
HP:0100886	Abnormality of globe location	79848	CSPP1	ORPHA:397715
HP:0100886	Abnormality of globe location	80184	CEP290	ORPHA:564
HP:0100886	Abnormality of globe location	57545	CC2D2A	ORPHA:564
HP:0100886	Abnormality of globe location	79583	TMEM231	ORPHA:564
HP:0100886	Abnormality of globe location	79583	TMEM231	ORPHA:2752
HP:0100886	Abnormality of globe location	27077	B9D1	ORPHA:564
HP:0100886	Abnormality of globe location	23322	RPGRIP1L	ORPHA:564
HP:0100886	Abnormality of globe location	54903	MKS1	ORPHA:564
HP:0100886	Abnormality of globe location	54903	MKS1	OMIM:617121
HP:0100886	Abnormality of globe location	54903	MKS1	OMIM:249000
HP:0100886	Abnormality of globe location	23111	SPART	ORPHA:101000
HP:0100886	Abnormality of globe location	23111	SPART	OMIM:275900
HP:0100886	Abnormality of globe location	1301	COL11A1	ORPHA:560
HP:0100886	Abnormality of globe location	1301	COL11A1	OMIM:154780
HP:0100886	Abnormality of globe location	1301	COL11A1	ORPHA:2021
HP:0100886	Abnormality of globe location	633	BGN	OMIM:300989
HP:0100886	Abnormality of globe location	63931	MRPS14	OMIM:618378
HP:0100886	Abnormality of globe location	3188	HNRNPH2	OMIM:300986
HP:0100886	Abnormality of globe location	4927	NUP88	ORPHA:994
HP:0100886	Abnormality of globe location	7846	TUBA1A	ORPHA:994
HP:0100886	Abnormality of globe location	4654	MYOD1	ORPHA:994
HP:0100886	Abnormality of globe location	4593	MUSK	ORPHA:994
HP:0100886	Abnormality of globe location	4593	MUSK	OMIM:208150
HP:0100886	Abnormality of globe location	5913	RAPSN	ORPHA:994
HP:0100886	Abnormality of globe location	5913	RAPSN	OMIM:618388
HP:0100886	Abnormality of globe location	6572	SLC18A3	ORPHA:994
HP:0100886	Abnormality of globe location	285489	DOK7	ORPHA:994
HP:0100886	Abnormality of globe location	29957	SLC25A24	ORPHA:2095
HP:0100886	Abnormality of globe location	29957	SLC25A24	OMIM:612289
HP:0100886	Abnormality of globe location	8812	CCNK	OMIM:618147
HP:0100886	Abnormality of globe location	65250	CPLANE1	OMIM:277170
HP:0100886	Abnormality of globe location	65250	CPLANE1	ORPHA:2754
HP:0100886	Abnormality of globe location	348180	CTU2	OMIM:618142
HP:0100886	Abnormality of globe location	3643	INSR	ORPHA:508
HP:0100886	Abnormality of globe location	5781	PTPN11	ORPHA:500
HP:0100886	Abnormality of globe location	5781	PTPN11	ORPHA:648
HP:0100886	Abnormality of globe location	5781	PTPN11	OMIM:151100
HP:0100886	Abnormality of globe location	5781	PTPN11	OMIM:163950
HP:0100886	Abnormality of globe location	673	BRAF	ORPHA:500
HP:0100886	Abnormality of globe location	673	BRAF	OMIM:613707
HP:0100886	Abnormality of globe location	673	BRAF	OMIM:613706
HP:0100886	Abnormality of globe location	673	BRAF	OMIM:115150
HP:0100886	Abnormality of globe location	673	BRAF	ORPHA:1340
HP:0100886	Abnormality of globe location	673	BRAF	OMIM:163950
HP:0100886	Abnormality of globe location	5894	RAF1	ORPHA:500
HP:0100886	Abnormality of globe location	5894	RAF1	ORPHA:648
HP:0100886	Abnormality of globe location	5894	RAF1	OMIM:611554
HP:0100886	Abnormality of globe location	5894	RAF1	OMIM:611553
HP:0100886	Abnormality of globe location	2317	FLNB	ORPHA:503
HP:0100886	Abnormality of globe location	2317	FLNB	OMIM:272460
HP:0100886	Abnormality of globe location	2317	FLNB	ORPHA:1190
HP:0100886	Abnormality of globe location	2317	FLNB	OMIM:108720
HP:0100886	Abnormality of globe location	2317	FLNB	OMIM:150250
HP:0100886	Abnormality of globe location	5728	PTEN	ORPHA:744
HP:0100886	Abnormality of globe location	5728	PTEN	ORPHA:79076
HP:0100886	Abnormality of globe location	207	AKT1	ORPHA:744
HP:0100886	Abnormality of globe location	11198	SUPT16H	OMIM:619480
HP:0100886	Abnormality of globe location	1457	CSNK2A1	OMIM:617062
HP:0100886	Abnormality of globe location	7204	TRIO	OMIM:617061
HP:0100886	Abnormality of globe location	7204	TRIO	OMIM:618825
HP:0100886	Abnormality of globe location	3636	INPPL1	OMIM:258480
HP:0100886	Abnormality of globe location	203068	TUBB	OMIM:156610
HP:0100886	Abnormality of globe location	374879	ZNF699	OMIM:619488
HP:0100886	Abnormality of globe location	28952	CCDC22	OMIM:300963
HP:0100886	Abnormality of globe location	28952	CCDC22	ORPHA:7
HP:0100886	Abnormality of globe location	9508	ADAMTS3	OMIM:618154
HP:0100886	Abnormality of globe location	9508	ADAMTS3	ORPHA:2136
HP:0100886	Abnormality of globe location	1654	DDX3X	OMIM:300958
HP:0100886	Abnormality of globe location	50964	SOST	OMIM:122860
HP:0100886	Abnormality of globe location	50964	SOST	OMIM:269500
HP:0100886	Abnormality of globe location	23387	SIK3	OMIM:618162
HP:0100886	Abnormality of globe location	5745	PTH1R	OMIM:156400
HP:0100886	Abnormality of globe location	5745	PTH1R	OMIM:600002
HP:0100886	Abnormality of globe location	89970	RSPRY1	ORPHA:457395
HP:0100886	Abnormality of globe location	89970	RSPRY1	OMIM:616723
HP:0100886	Abnormality of globe location	51594	NBAS	OMIM:614800
HP:0100886	Abnormality of globe location	10020	GNE	ORPHA:3166
HP:0100886	Abnormality of globe location	10020	GNE	OMIM:269921
HP:0100886	Abnormality of globe location	84081	NSRP1	OMIM:620001
HP:0100886	Abnormality of globe location	55901	THSD1	OMIM:620244
HP:0100886	Abnormality of globe location	7474	WNT5A	OMIM:180700
HP:0100886	Abnormality of globe location	7474	WNT5A	ORPHA:3107
HP:0100886	Abnormality of globe location	9897	WASHC5	ORPHA:7
HP:0100886	Abnormality of globe location	9897	WASHC5	OMIM:220210
HP:0100886	Abnormality of globe location	84842	HPDL	OMIM:619026
HP:0100886	Abnormality of globe location	5077	PAX3	OMIM:122880
HP:0100886	Abnormality of globe location	5077	PAX3	ORPHA:1529
HP:0100886	Abnormality of globe location	5077	PAX3	OMIM:193500
HP:0100886	Abnormality of globe location	84942	WDR73	ORPHA:2065
HP:0100886	Abnormality of globe location	84942	WDR73	OMIM:251300
HP:0100886	Abnormality of globe location	57122	NUP107	ORPHA:2065
HP:0100886	Abnormality of globe location	10785	WDR4	ORPHA:2065
HP:0100886	Abnormality of globe location	55746	NUP133	ORPHA:2065
HP:0100886	Abnormality of globe location	112858	TP53RK	ORPHA:2065
HP:0100886	Abnormality of globe location	112858	TP53RK	OMIM:617730
HP:0100886	Abnormality of globe location	8270	LAGE3	ORPHA:2065
HP:0100886	Abnormality of globe location	168667	BMPER	OMIM:608022
HP:0100886	Abnormality of globe location	10682	EBP	ORPHA:401973
HP:0100886	Abnormality of globe location	10682	EBP	ORPHA:35173
HP:0100886	Abnormality of globe location	324	APC	ORPHA:261584
HP:0100886	Abnormality of globe location	324	APC	ORPHA:3258
HP:0100886	Abnormality of globe location	894	CCND2	ORPHA:83473
HP:0100886	Abnormality of globe location	5296	PIK3R2	ORPHA:83473
HP:0100886	Abnormality of globe location	10000	AKT3	ORPHA:83473
HP:0100886	Abnormality of globe location	5393	EXOSC9	OMIM:618065
HP:0100886	Abnormality of globe location	23241	PACS2	OMIM:618067
HP:0100886	Abnormality of globe location	161742	SPRED1	OMIM:611431
HP:0100886	Abnormality of globe location	5885	RAD21	OMIM:614701
HP:0100886	Abnormality of globe location	57539	WDR35	OMIM:613610
HP:0100886	Abnormality of globe location	80144	FRAS1	OMIM:219000
HP:0100886	Abnormality of globe location	80144	FRAS1	ORPHA:2052
HP:0100886	Abnormality of globe location	89910	UBE3B	OMIM:244450
HP:0100886	Abnormality of globe location	51506	UFC1	OMIM:618076
HP:0100886	Abnormality of globe location	1717	DHCR7	ORPHA:818
HP:0100886	Abnormality of globe location	1717	DHCR7	OMIM:270400
HP:0100886	Abnormality of globe location	29072	SETD2	OMIM:620157
HP:0100886	Abnormality of globe location	29072	SETD2	OMIM:620155
HP:0100886	Abnormality of globe location	55780	ERMARD	ORPHA:75857
HP:0100886	Abnormality of globe location	9382	COG1	OMIM:611209
HP:0100886	Abnormality of globe location	9382	COG1	ORPHA:263508
HP:0100886	Abnormality of globe location	4038	LRP4	ORPHA:3258
HP:0100886	Abnormality of globe location	4038	LRP4	OMIM:614305
HP:0100886	Abnormality of globe location	4038	LRP4	OMIM:212780
HP:0100886	Abnormality of globe location	6197	RPS6KA3	OMIM:303600
HP:0100886	Abnormality of globe location	6197	RPS6KA3	ORPHA:192
HP:0100886	Abnormality of globe location	6197	RPS6KA3	ORPHA:276630
HP:0100886	Abnormality of globe location	1185	CLCN6	OMIM:619173
HP:0100886	Abnormality of globe location	56992	KIF15	ORPHA:261323
HP:0100886	Abnormality of globe location	84720	PIGO	ORPHA:247262
HP:0100886	Abnormality of globe location	84720	PIGO	OMIM:614749
HP:0100886	Abnormality of globe location	93210	PGAP3	ORPHA:247262
HP:0100886	Abnormality of globe location	93210	PGAP3	OMIM:615716
HP:0100886	Abnormality of globe location	284098	PIGW	ORPHA:247262
HP:0100886	Abnormality of globe location	27315	PGAP2	ORPHA:247262
HP:0100886	Abnormality of globe location	27315	PGAP2	OMIM:614207
HP:0100886	Abnormality of globe location	9487	PIGL	ORPHA:247262
HP:0100886	Abnormality of globe location	9487	PIGL	ORPHA:3474
HP:0100886	Abnormality of globe location	9487	PIGL	OMIM:280000
HP:0100886	Abnormality of globe location	4001	LMNB1	OMIM:619179
HP:0100886	Abnormality of globe location	64324	NSD1	OMIM:117550
HP:0100886	Abnormality of globe location	64324	NSD1	ORPHA:3447
HP:0100886	Abnormality of globe location	1272	CNTN1	OMIM:612540
HP:0100886	Abnormality of globe location	1801	DPH1	OMIM:616901
HP:0100886	Abnormality of globe location	1801	DPH1	ORPHA:459061
HP:0100886	Abnormality of globe location	672	BRCA1	ORPHA:84
HP:0100886	Abnormality of globe location	672	BRCA1	OMIM:617883
HP:0100886	Abnormality of globe location	10459	MAD2L2	ORPHA:84
HP:0100886	Abnormality of globe location	7516	XRCC2	ORPHA:84
HP:0100886	Abnormality of globe location	29089	UBE2T	ORPHA:84
HP:0100886	Abnormality of globe location	675	BRCA2	ORPHA:84
HP:0100886	Abnormality of globe location	55120	FANCL	ORPHA:84
HP:0100886	Abnormality of globe location	55120	FANCL	OMIM:614083
HP:0100886	Abnormality of globe location	2177	FANCD2	ORPHA:84
HP:0100886	Abnormality of globe location	2177	FANCD2	OMIM:227646
HP:0100886	Abnormality of globe location	2175	FANCA	ORPHA:84
HP:0100886	Abnormality of globe location	2187	FANCB	ORPHA:84
HP:0100886	Abnormality of globe location	2176	FANCC	ORPHA:84
HP:0100886	Abnormality of globe location	2178	FANCE	ORPHA:84
HP:0100886	Abnormality of globe location	2188	FANCF	ORPHA:84
HP:0100886	Abnormality of globe location	2189	FANCG	ORPHA:84
HP:0100886	Abnormality of globe location	5888	RAD51	ORPHA:84
HP:0100886	Abnormality of globe location	5889	RAD51C	ORPHA:84
HP:0100886	Abnormality of globe location	55159	RFWD3	ORPHA:84
HP:0100886	Abnormality of globe location	83990	BRIP1	ORPHA:84
HP:0100886	Abnormality of globe location	57697	FANCM	ORPHA:84
HP:0100886	Abnormality of globe location	84464	SLX4	ORPHA:84
HP:0100886	Abnormality of globe location	55215	FANCI	ORPHA:84
HP:0100886	Abnormality of globe location	546	ATRX	ORPHA:847
HP:0100886	Abnormality of globe location	546	ATRX	OMIM:309580
HP:0100886	Abnormality of globe location	546	ATRX	OMIM:301040
HP:0100886	Abnormality of globe location	51057	WDPCP	OMIM:217085
HP:0100886	Abnormality of globe location	9896	FIG4	ORPHA:3472
HP:0100886	Abnormality of globe location	9896	FIG4	OMIM:216340
HP:0100886	Abnormality of globe location	55697	VAC14	ORPHA:3472
HP:0100886	Abnormality of globe location	6999	TDO2	OMIM:600627
HP:0100886	Abnormality of globe location	23036	ZNF292	OMIM:619188
HP:0100886	Abnormality of globe location	55148	UBR7	OMIM:619189
HP:0100886	Abnormality of globe location	23545	ATP6V0A2	OMIM:278250
HP:0100886	Abnormality of globe location	23545	ATP6V0A2	ORPHA:2834
HP:0100886	Abnormality of globe location	23545	ATP6V0A2	ORPHA:357074
HP:0100886	Abnormality of globe location	1954	MEGF8	OMIM:614976
HP:0100886	Abnormality of globe location	3070	HELLS	OMIM:616911
HP:0100886	Abnormality of globe location	3070	HELLS	ORPHA:2268
HP:0100886	Abnormality of globe location	4036	LRP2	ORPHA:2143
HP:0100886	Abnormality of globe location	4036	LRP2	OMIM:222448
HP:0100886	Abnormality of globe location	83879	CDCA7	OMIM:616910
HP:0100886	Abnormality of globe location	83879	CDCA7	ORPHA:2268
HP:0100886	Abnormality of globe location	79053	ALG8	OMIM:608104
HP:0100886	Abnormality of globe location	79053	ALG8	ORPHA:79325
HP:0100886	Abnormality of globe location	526	ATP6V1B2	ORPHA:3473
HP:0100886	Abnormality of globe location	526	ATP6V1B2	ORPHA:79500
HP:0100886	Abnormality of globe location	3756	KCNH1	ORPHA:3473
HP:0100886	Abnormality of globe location	3756	KCNH1	OMIM:611816
HP:0100886	Abnormality of globe location	3756	KCNH1	ORPHA:420561
HP:0100886	Abnormality of globe location	3782	KCNN3	ORPHA:3473
HP:0100886	Abnormality of globe location	3425	IDUA	OMIM:607014
HP:0100886	Abnormality of globe location	175	AGA	ORPHA:93
HP:0100886	Abnormality of globe location	53834	FGFRL1	OMIM:194190
HP:0100886	Abnormality of globe location	3954	LETM1	OMIM:194190
HP:0100886	Abnormality of globe location	3954	LETM1	ORPHA:280
HP:0100886	Abnormality of globe location	10815	CPLX1	OMIM:194190
HP:0100886	Abnormality of globe location	10815	CPLX1	ORPHA:280
HP:0100886	Abnormality of globe location	10815	CPLX1	OMIM:617976
HP:0100886	Abnormality of globe location	3192	HNRNPU	ORPHA:238769
HP:0100886	Abnormality of globe location	9653	HS2ST1	OMIM:619194
HP:0100886	Abnormality of globe location	5447	POR	OMIM:201750
HP:0100886	Abnormality of globe location	57217	TTC7A	OMIM:243150
HP:0100886	Abnormality of globe location	56006	SMG9	OMIM:616920
HP:0100886	Abnormality of globe location	64327	LMBR1	ORPHA:2378
HP:0100886	Abnormality of globe location	147372	CCBE1	ORPHA:2136
HP:0100886	Abnormality of globe location	147372	CCBE1	OMIM:235510
HP:0100886	Abnormality of globe location	26053	AUTS2	OMIM:615834
HP:0100886	Abnormality of globe location	26053	AUTS2	ORPHA:352490
HP:0100886	Abnormality of globe location	54499	TMCO1	OMIM:213980
HP:0100886	Abnormality of globe location	54499	TMCO1	ORPHA:1394
HP:0100886	Abnormality of globe location	3675	ITGA3	OMIM:614748
HP:0100886	Abnormality of globe location	8085	KMT2D	OMIM:620186
HP:0100886	Abnormality of globe location	10907	TXNL4A	OMIM:608572
HP:0100886	Abnormality of globe location	10907	TXNL4A	ORPHA:1200
HP:0100886	Abnormality of globe location	8050	PDHX	OMIM:245349
HP:0100886	Abnormality of globe location	4094	MAF	ORPHA:1272
HP:0100886	Abnormality of globe location	4094	MAF	OMIM:601088
HP:0100886	Abnormality of globe location	23522	KAT6B	ORPHA:85201
HP:0100886	Abnormality of globe location	8481	OFD1	OMIM:311200
HP:0100886	Abnormality of globe location	8481	OFD1	ORPHA:2750
HP:0100886	Abnormality of globe location	8481	OFD1	ORPHA:2754
HP:0100886	Abnormality of globe location	10472	ZBTB18	OMIM:612337
HP:0100886	Abnormality of globe location	10472	ZBTB18	ORPHA:36367
HP:0100886	Abnormality of globe location	137814	NKX2-6	OMIM:217095
HP:0100886	Abnormality of globe location	1482	NKX2-5	OMIM:217095
HP:0100886	Abnormality of globe location	2627	GATA6	OMIM:217095
HP:0100886	Abnormality of globe location	55343	SLC35C1	ORPHA:99843
HP:0100886	Abnormality of globe location	2535	FZD2	OMIM:164745
HP:0100886	Abnormality of globe location	2535	FZD2	ORPHA:3107
HP:0100886	Abnormality of globe location	2535	FZD2	ORPHA:93328
HP:0100886	Abnormality of globe location	8813	DPM1	OMIM:608799
HP:0100886	Abnormality of globe location	8813	DPM1	ORPHA:79322
HP:0100886	Abnormality of globe location	9652	SKIC3	OMIM:222470
HP:0100886	Abnormality of globe location	9652	SKIC3	ORPHA:84064
HP:0100886	Abnormality of globe location	27086	FOXP1	OMIM:613670
HP:0100886	Abnormality of globe location	27086	FOXP1	ORPHA:391372
HP:0100886	Abnormality of globe location	6611	SMS	OMIM:309583
HP:0100886	Abnormality of globe location	6611	SMS	ORPHA:3063
HP:0100886	Abnormality of globe location	2146	EZH2	OMIM:277590
HP:0100886	Abnormality of globe location	2146	EZH2	ORPHA:3447
HP:0100886	Abnormality of globe location	7048	TGFBR2	OMIM:610168
HP:0100886	Abnormality of globe location	7048	TGFBR2	ORPHA:60030
HP:0100886	Abnormality of globe location	7048	TGFBR2	ORPHA:91387
HP:0100886	Abnormality of globe location	22856	CHSY1	OMIM:605282
HP:0100886	Abnormality of globe location	6509	SLC1A4	ORPHA:447997
HP:0100886	Abnormality of globe location	701	BUB1B	OMIM:257300
HP:0100886	Abnormality of globe location	8726	EED	ORPHA:3447
HP:0100886	Abnormality of globe location	8726	EED	OMIM:617561
HP:0100886	Abnormality of globe location	29123	ANKRD11	OMIM:148050
HP:0100886	Abnormality of globe location	29123	ANKRD11	ORPHA:2332
HP:0100886	Abnormality of globe location	91252	SLC39A13	OMIM:612350
HP:0100886	Abnormality of globe location	57724	EPG5	ORPHA:1493
HP:0100886	Abnormality of globe location	57724	EPG5	OMIM:242840
HP:0100886	Abnormality of globe location	56052	ALG1	OMIM:608540
HP:0100886	Abnormality of globe location	2245	FGD1	OMIM:305400
HP:0100886	Abnormality of globe location	2245	FGD1	ORPHA:915
HP:0100886	Abnormality of globe location	5648	MASP1	OMIM:257920
HP:0100886	Abnormality of globe location	5648	MASP1	ORPHA:293843
HP:0100886	Abnormality of globe location	132	ADK	OMIM:614300
HP:0100886	Abnormality of globe location	2733	GLE1	ORPHA:1486
HP:0100886	Abnormality of globe location	23394	ADNP	OMIM:615873
HP:0100886	Abnormality of globe location	11133	KPTN	OMIM:615637
HP:0100886	Abnormality of globe location	8092	ALX1	OMIM:613456
HP:0100886	Abnormality of globe location	8092	ALX1	ORPHA:306542
HP:0100886	Abnormality of globe location	79796	ALG9	OMIM:608776
HP:0100886	Abnormality of globe location	79796	ALG9	ORPHA:79328
HP:0100886	Abnormality of globe location	79796	ALG9	OMIM:263210
HP:0100886	Abnormality of globe location	79650	USB1	OMIM:604173
HP:0100886	Abnormality of globe location	55593	OTUD5	OMIM:301056
HP:0100886	Abnormality of globe location	4854	NOTCH3	OMIM:130720
HP:0100886	Abnormality of globe location	4854	NOTCH3	ORPHA:2789
HP:0100886	Abnormality of globe location	84162	BLTP1	OMIM:617822
HP:0100886	Abnormality of globe location	4893	NRAS	OMIM:613224
HP:0100886	Abnormality of globe location	4893	NRAS	OMIM:137550
HP:0100886	Abnormality of globe location	4893	NRAS	ORPHA:648
HP:0100886	Abnormality of globe location	998	CDC42	OMIM:616737
HP:0100886	Abnormality of globe location	998	CDC42	ORPHA:487796
HP:0100886	Abnormality of globe location	79644	SRD5A3	OMIM:612379
HP:0100886	Abnormality of globe location	117581	TWIST2	ORPHA:1231
HP:0100886	Abnormality of globe location	117581	TWIST2	OMIM:209885
HP:0100886	Abnormality of globe location	117581	TWIST2	OMIM:200110
HP:0100886	Abnormality of globe location	3097	HIVEP2	OMIM:616977
HP:0100886	Abnormality of globe location	10982	MAPRE2	OMIM:616734
HP:0100886	Abnormality of globe location	23097	CDK19	OMIM:618916
HP:0100886	Abnormality of globe location	7547	ZIC3	OMIM:306955
HP:0100886	Abnormality of globe location	63035	BCORL1	OMIM:301029
HP:0100886	Abnormality of globe location	57211	ADGRG6	OMIM:616503
HP:0100886	Abnormality of globe location	3759	KCNJ2	OMIM:170390
HP:0100886	Abnormality of globe location	3759	KCNJ2	ORPHA:37553
HP:0100886	Abnormality of globe location	157570	ESCO2	ORPHA:2319
HP:0100886	Abnormality of globe location	157570	ESCO2	OMIM:216100
HP:0100886	Abnormality of globe location	157570	ESCO2	ORPHA:3103
HP:0100886	Abnormality of globe location	157570	ESCO2	OMIM:268300
HP:0100886	Abnormality of globe location	60	ACTB	ORPHA:79107
HP:0100886	Abnormality of globe location	60	ACTB	OMIM:243310
HP:0100886	Abnormality of globe location	60	ACTB	ORPHA:2995
HP:0100886	Abnormality of globe location	23028	KDM1A	ORPHA:477993
HP:0100886	Abnormality of globe location	83696	TRAPPC9	ORPHA:352530
HP:0100886	Abnormality of globe location	83696	TRAPPC9	OMIM:613192
HP:0100886	Abnormality of globe location	860	RUNX2	ORPHA:1452
HP:0100886	Abnormality of globe location	860	RUNX2	OMIM:119600
HP:0100886	Abnormality of globe location	2313	FLI1	ORPHA:2308
HP:0100886	Abnormality of globe location	71	ACTG1	OMIM:614583
HP:0100886	Abnormality of globe location	71	ACTG1	ORPHA:2995
HP:0100886	Abnormality of globe location	10367	MICU1	OMIM:615673
HP:0100886	Abnormality of globe location	2517	FUCA1	OMIM:230000
HP:0100886	Abnormality of globe location	25885	POLR1A	ORPHA:1200
HP:0100886	Abnormality of globe location	9894	TELO2	ORPHA:488642
HP:0100886	Abnormality of globe location	4329	ALDH6A1	OMIM:614105
HP:0100886	Abnormality of globe location	3265	HRAS	OMIM:137550
HP:0100886	Abnormality of globe location	3265	HRAS	OMIM:218040
HP:0100886	Abnormality of globe location	23556	PIGN	ORPHA:280633
HP:0100886	Abnormality of globe location	23556	PIGN	OMIM:614080
HP:0100886	Abnormality of globe location	23556	PIGN	ORPHA:2059
HP:0100886	Abnormality of globe location	55617	TASP1	OMIM:618950
HP:0100886	Abnormality of globe location	112752	IFT43	OMIM:617866
HP:0100886	Abnormality of globe location	92335	STRADA	OMIM:611087
HP:0100886	Abnormality of globe location	113246	C12orf57	OMIM:218340
HP:0100886	Abnormality of globe location	139285	AMER1	OMIM:300373
HP:0100886	Abnormality of globe location	54888	NSUN2	OMIM:611091
HP:0100886	Abnormality of globe location	54888	NSUN2	ORPHA:235
HP:0100886	Abnormality of globe location	5331	PLCB3	OMIM:618961
HP:0100886	Abnormality of globe location	153241	CEP120	OMIM:616300
HP:0100886	Abnormality of globe location	23247	KATNIP	OMIM:616784
HP:0100886	Abnormality of globe location	1748	DLX4	OMIM:616788
HP:0100886	Abnormality of globe location	4000	LMNA	ORPHA:1662
HP:0100886	Abnormality of globe location	10269	ZMPSTE24	ORPHA:1662
HP:0100886	Abnormality of globe location	10269	ZMPSTE24	OMIM:275210
HP:0100886	Abnormality of globe location	23389	MED13L	OMIM:616789
HP:0100886	Abnormality of globe location	23389	MED13L	ORPHA:369891
HP:0100886	Abnormality of globe location	1146	CHRNG	ORPHA:2990
HP:0100886	Abnormality of globe location	1146	CHRNG	OMIM:265000
HP:0100886	Abnormality of globe location	1146	CHRNG	OMIM:253290
HP:0100886	Abnormality of globe location	3778	KCNMA1	OMIM:618729
HP:0100886	Abnormality of globe location	10210	TOPORS	ORPHA:2754
HP:0100886	Abnormality of globe location	9851	KIAA0753	ORPHA:2754
HP:0100886	Abnormality of globe location	9851	KIAA0753	OMIM:617127
HP:0100886	Abnormality of globe location	5147	PDE6D	ORPHA:2754
HP:0100886	Abnormality of globe location	317662	FAM149B1	ORPHA:2754
HP:0100886	Abnormality of globe location	11141	IL1RAPL1	OMIM:300143
HP:0100886	Abnormality of globe location	55553	SOX6	OMIM:618971
HP:0100886	Abnormality of globe location	57647	DHX37	OMIM:618731
HP:0100886	Abnormality of globe location	10736	SIX2	ORPHA:488437
HP:0100886	Abnormality of globe location	79875	THSD4	OMIM:619825
HP:0100886	Abnormality of globe location	4281	MID1	ORPHA:2745
HP:0100886	Abnormality of globe location	4281	MID1	OMIM:300000
HP:0100886	Abnormality of globe location	523	ATP6V1A	OMIM:617403
HP:0100886	Abnormality of globe location	523	ATP6V1A	ORPHA:357074
HP:0100886	Abnormality of globe location	529	ATP6V1E1	OMIM:617402
HP:0100886	Abnormality of globe location	529	ATP6V1E1	ORPHA:357074
HP:0100886	Abnormality of globe location	6655	SOS2	OMIM:616559
HP:0100886	Abnormality of globe location	6655	SOS2	ORPHA:648
HP:0100886	Abnormality of globe location	6929	TCF3	OMIM:619824
HP:0100886	Abnormality of globe location	6929	TCF3	ORPHA:33110
HP:0100886	Abnormality of globe location	1278	COL1A2	ORPHA:1899
HP:0100886	Abnormality of globe location	1277	COL1A1	ORPHA:1899
HP:0100886	Abnormality of globe location	3762	KCNJ5	ORPHA:37553
HP:0100886	Abnormality of globe location	11253	MAN1B1	ORPHA:397941
HP:0100886	Abnormality of globe location	11253	MAN1B1	OMIM:614202
HP:0100886	Abnormality of globe location	10617	STAMBP	OMIM:614261
HP:0100886	Abnormality of globe location	8294	H4C9	OMIM:619951
HP:0100886	Abnormality of globe location	50651	SLC45A1	OMIM:617532
HP:0100886	Abnormality of globe location	9853	RUSC2	OMIM:617773
HP:0100886	Abnormality of globe location	56172	ANKH	ORPHA:1522
HP:0100886	Abnormality of globe location	56172	ANKH	OMIM:123000
HP:0100886	Abnormality of globe location	8425	LTBP4	OMIM:613177
HP:0100886	Abnormality of globe location	6016	RIT1	OMIM:615355
HP:0100886	Abnormality of globe location	6016	RIT1	ORPHA:648
HP:0100886	Abnormality of globe location	1947	EFNB1	ORPHA:1520
HP:0100886	Abnormality of globe location	1947	EFNB1	OMIM:304110
HP:0100886	Abnormality of globe location	5830	PEX5	OMIM:214110
HP:0100886	Abnormality of globe location	9786	KIAA0586	ORPHA:397715
HP:0100886	Abnormality of globe location	79639	TMEM53	OMIM:619727
HP:0100886	Abnormality of globe location	23384	SPECC1L	ORPHA:1519
HP:0100886	Abnormality of globe location	23384	SPECC1L	OMIM:145420
HP:0100886	Abnormality of globe location	5189	PEX1	OMIM:214100
HP:0100886	Abnormality of globe location	999	CDH1	ORPHA:1997
HP:0100886	Abnormality of globe location	999	CDH1	OMIM:119580
HP:0100886	Abnormality of globe location	2590	GALNT2	OMIM:618885
HP:0100886	Abnormality of globe location	10584	COLEC10	OMIM:248340
HP:0100886	Abnormality of globe location	10584	COLEC10	ORPHA:293843
HP:0100886	Abnormality of globe location	9469	CHST3	OMIM:143095
HP:0100886	Abnormality of globe location	9469	CHST3	ORPHA:263463
HP:0100886	Abnormality of globe location	9469	CHST3	OMIM:245600
HP:0100886	Abnormality of globe location	9692	PRORP	OMIM:619737
HP:0100886	Abnormality of globe location	4853	NOTCH2	OMIM:102500
HP:0100886	Abnormality of globe location	4853	NOTCH2	ORPHA:955
HP:0100886	Abnormality of globe location	51319	RSRC1	OMIM:618402
HP:0100886	Abnormality of globe location	4920	ROR2	ORPHA:1507
HP:0100886	Abnormality of globe location	4920	ROR2	OMIM:268310
HP:0100886	Abnormality of globe location	7020	TFAP2A	OMIM:113620
HP:0100886	Abnormality of globe location	54872	PIGG	ORPHA:280
HP:0100886	Abnormality of globe location	54872	PIGG	ORPHA:488635
HP:0100886	Abnormality of globe location	7469	NELFA	ORPHA:280
HP:0100886	Abnormality of globe location	283987	HID1	OMIM:619983
HP:0100886	Abnormality of globe location	22884	WDR37	OMIM:618652
HP:0100886	Abnormality of globe location	1656	DDX6	OMIM:618653
HP:0100886	Abnormality of globe location	1501	CTNND2	ORPHA:281
HP:0100886	Abnormality of globe location	9037	SEMA5A	ORPHA:281
HP:0100886	Abnormality of globe location	4297	KMT2A	ORPHA:319182
HP:0100886	Abnormality of globe location	4297	KMT2A	OMIM:605130
HP:0100886	Abnormality of globe location	55714	TENM3	OMIM:615145
HP:0100886	Abnormality of globe location	57178	ZMIZ1	OMIM:618659
HP:0100886	Abnormality of globe location	200734	SPRED2	OMIM:619745
HP:0100886	Abnormality of globe location	200734	SPRED2	ORPHA:648
HP:0100886	Abnormality of globe location	64132	XYLT2	ORPHA:85194
HP:0100886	Abnormality of globe location	55623	THUMPD1	OMIM:619989
HP:0100886	Abnormality of globe location	8241	RBM10	OMIM:311900
HP:0100886	Abnormality of globe location	8241	RBM10	ORPHA:2886
HP:0100886	Abnormality of globe location	1789	DNMT3B	OMIM:242860
HP:0100886	Abnormality of globe location	1789	DNMT3B	ORPHA:2268
HP:0100886	Abnormality of globe location	3981	LIG4	ORPHA:235
HP:0100886	Abnormality of globe location	1182	CLCN3	OMIM:619512
HP:0100886	Abnormality of globe location	85301	COL27A1	OMIM:615155
HP:0100886	Abnormality of globe location	11154	AP4S1	OMIM:614067
HP:0100886	Abnormality of globe location	7862	BRPF1	OMIM:617333
HP:0100886	Abnormality of globe location	3572	IL6ST	OMIM:619750
HP:0100886	Abnormality of globe location	8363	H4C11	OMIM:619759
HP:0100886	Abnormality of globe location	5048	PAFAH1B1	ORPHA:217385
HP:0100886	Abnormality of globe location	7531	YWHAE	ORPHA:217385
HP:0100886	Abnormality of globe location	9841	ZBTB24	OMIM:614069
HP:0100886	Abnormality of globe location	9841	ZBTB24	ORPHA:2268
HP:0100886	Abnormality of globe location	8364	H4C3	OMIM:619758
HP:0100886	Abnormality of globe location	286	ANK1	ORPHA:251066
HP:0100886	Abnormality of globe location	4247	MGAT2	ORPHA:79329
HP:0100886	Abnormality of globe location	7750	ZMYM2	OMIM:619522
HP:0100886	Abnormality of globe location	8733	GPAA1	ORPHA:529665
HP:0100886	Abnormality of globe location	2542	SLC37A4	OMIM:619525
HP:0100886	Abnormality of globe location	25973	PARS2	OMIM:618437
HP:0100886	Abnormality of globe location	57492	ARID1B	ORPHA:251056
HP:0100886	Abnormality of globe location	57492	ARID1B	OMIM:135900
HP:0100886	Abnormality of globe location	2683	B4GALT1	ORPHA:79332
HP:0100886	Abnormality of globe location	2271	FH	OMIM:606812
HP:0100886	Abnormality of globe location	5373	PMM2	ORPHA:79318
HP:0100886	Abnormality of globe location	7030	TFE3	OMIM:301066
HP:0100886	Abnormality of globe location	51651	PTRH2	OMIM:616263
HP:0100886	Abnormality of globe location	51651	PTRH2	ORPHA:456312
HP:0100886	Abnormality of globe location	4123	MAN2C1	OMIM:619775
HP:0100886	Abnormality of globe location	1107	CHD3	OMIM:618205
HP:0100886	Abnormality of globe location	6261	RYR1	ORPHA:324581
HP:0100886	Abnormality of globe location	6261	RYR1	OMIM:619542
HP:0100886	Abnormality of globe location	404672	GTF2H5	ORPHA:33364
HP:0100886	Abnormality of globe location	7737	RNF113A	ORPHA:33364
HP:0100886	Abnormality of globe location	136647	MPLKIP	ORPHA:33364
HP:0100886	Abnormality of globe location	6897	TARS1	ORPHA:33364
HP:0100886	Abnormality of globe location	2071	ERCC3	ORPHA:33364
HP:0100886	Abnormality of globe location	2961	GTF2E2	ORPHA:33364
HP:0100886	Abnormality of globe location	29929	ALG6	ORPHA:79320
HP:0100886	Abnormality of globe location	8621	CDK13	OMIM:617360
HP:0100886	Abnormality of globe location	29968	PSAT1	OMIM:616038
HP:0100886	Abnormality of globe location	29968	PSAT1	ORPHA:284417
HP:0100886	Abnormality of globe location	164	AP1G1	OMIM:619548
HP:0100886	Abnormality of globe location	55770	EXOC2	OMIM:619306
HP:0100886	Abnormality of globe location	6654	SOS1	OMIM:610733
HP:0100886	Abnormality of globe location	6654	SOS1	ORPHA:648
HP:0100886	Abnormality of globe location	973	CD79A	ORPHA:33110
HP:0100886	Abnormality of globe location	974	CD79B	ORPHA:33110
HP:0100886	Abnormality of globe location	3543	IGLL1	ORPHA:33110
HP:0100886	Abnormality of globe location	3507	IGHM	ORPHA:33110
HP:0100886	Abnormality of globe location	29760	BLNK	ORPHA:33110
HP:0100886	Abnormality of globe location	56262	LRRC8A	ORPHA:33110
HP:0100886	Abnormality of globe location	56262	LRRC8A	OMIM:613506
HP:0100886	Abnormality of globe location	81848	SPRY4	ORPHA:432
HP:0100886	Abnormality of globe location	128674	PROKR2	ORPHA:432
HP:0100886	Abnormality of globe location	60675	PROK2	ORPHA:432
HP:0100886	Abnormality of globe location	6870	TACR3	ORPHA:432
HP:0100886	Abnormality of globe location	1848	DUSP6	ORPHA:432
HP:0100886	Abnormality of globe location	26012	NSMF	ORPHA:432
HP:0100886	Abnormality of globe location	55717	WDR11	ORPHA:432
HP:0100886	Abnormality of globe location	9394	HS6ST1	ORPHA:432
HP:0100886	Abnormality of globe location	2796	GNRH1	ORPHA:432
HP:0100886	Abnormality of globe location	2798	GNRHR	ORPHA:432
HP:0100886	Abnormality of globe location	84634	KISS1R	ORPHA:432
HP:0100886	Abnormality of globe location	6866	TAC3	ORPHA:432
HP:0100886	Abnormality of globe location	8822	FGF17	ORPHA:432
HP:0100886	Abnormality of globe location	3814	KISS1	ORPHA:432
HP:0100886	Abnormality of globe location	6909	TBX2	OMIM:618223
HP:0100886	Abnormality of globe location	6477	SIAH1	OMIM:619314
HP:0100886	Abnormality of globe location	6323	SCN1A	OMIM:619317
HP:0100886	Abnormality of globe location	100151683	RNU4ATAC	ORPHA:353298
HP:0100886	Abnormality of globe location	51412	ACTL6B	OMIM:618470
HP:0100886	Abnormality of globe location	1349	COX7B	OMIM:300887
HP:0100886	Abnormality of globe location	650	BMP2	ORPHA:261295
HP:0100886	Abnormality of globe location	9871	SEC24D	OMIM:616294
HP:0100886	Abnormality of globe location	9342	SNAP29	ORPHA:66631
HP:0100886	Abnormality of globe location	9342	SNAP29	OMIM:609528
HP:0100886	Abnormality of globe location	26128	KIFBP	ORPHA:66629
HP:0100886	Abnormality of globe location	2710	GK	OMIM:307030
HP:0100886	Abnormality of globe location	83999	KREMEN1	OMIM:617392
HP:0100886	Abnormality of globe location	57551	TAOK1	OMIM:619575
HP:0100886	Abnormality of globe location	50619	DEF6	OMIM:619573
HP:0100886	Abnormality of globe location	1108	CHD4	OMIM:617159
HP:0100886	Abnormality of globe location	29920	PYCR2	ORPHA:481152
HP:0100886	Abnormality of globe location	9969	MED13	OMIM:618009
HP:0100886	Abnormality of globe location	1280	COL2A1	ORPHA:94068
HP:0100886	Abnormality of globe location	1280	COL2A1	ORPHA:93346
HP:0100886	Abnormality of globe location	2077	ERF	ORPHA:207
HP:0100886	Abnormality of globe location	2077	ERF	OMIM:617180
HP:0100886	Abnormality of globe location	2077	ERF	OMIM:600775
HP:0100886	Abnormality of globe location	8604	SLC25A12	OMIM:612949
HP:0100886	Abnormality of globe location	80324	PUS1	OMIM:600462
HP:0100886	Abnormality of globe location	9496	TBX4	ORPHA:261279
HP:0100886	Abnormality of globe location	22808	MRAS	OMIM:618499
HP:0100886	Abnormality of globe location	22808	MRAS	ORPHA:648
HP:0100886	Abnormality of globe location	9451	EIF2AK3	OMIM:226980
HP:0100886	Abnormality of globe location	5277	PIGA	OMIM:300868
HP:0100886	Abnormality of globe location	5144	PDE4D	ORPHA:439822
HP:0100886	Abnormality of globe location	5144	PDE4D	ORPHA:950
HP:0100886	Abnormality of globe location	2475	MTOR	ORPHA:457485
HP:0100886	Abnormality of globe location	2475	MTOR	OMIM:616638
HP:0100886	Abnormality of globe location	6023	RMRP	OMIM:607095
HP:0100886	Abnormality of globe location	5573	PRKAR1A	OMIM:101800
HP:0100886	Abnormality of globe location	5573	PRKAR1A	ORPHA:950
HP:0100886	Abnormality of globe location	57187	THOC2	ORPHA:457240
HP:0100886	Abnormality of globe location	9791	PTDSS1	OMIM:151050
HP:0100886	Abnormality of globe location	9791	PTDSS1	ORPHA:2658
HP:0100886	Abnormality of globe location	10771	ZMYND11	OMIM:616083
HP:0100886	Abnormality of globe location	57003	CCDC47	OMIM:618268
HP:0100886	Abnormality of globe location	5977	DPF2	OMIM:618027
HP:0100886	Abnormality of globe location	340419	RSPO2	OMIM:618021
HP:0100886	Abnormality of globe location	4041	LRP5	ORPHA:178377
HP:0100886	Abnormality of globe location	145173	B3GLCT	OMIM:261540
HP:0100886	Abnormality of globe location	145173	B3GLCT	ORPHA:709
HP:0100886	Abnormality of globe location	79005	SCNM1	OMIM:620107
HP:0100886	Abnormality of globe location	4796	TONSL	OMIM:271510
HP:0100886	Abnormality of globe location	57465	TBC1D24	ORPHA:79500
HP:0100886	Abnormality of globe location	57465	TBC1D24	OMIM:220500
HP:0100886	Abnormality of globe location	10653	SPINT2	OMIM:270420
HP:0100886	Abnormality of globe location	84172	POLR1B	ORPHA:861
HP:0100886	Abnormality of globe location	9533	POLR1C	ORPHA:861
HP:0100886	Abnormality of globe location	51082	POLR1D	ORPHA:861
HP:0100886	Abnormality of globe location	6949	TCOF1	ORPHA:861
HP:0100886	Abnormality of globe location	23405	DICER1	OMIM:618272
HP:0100886	Abnormality of globe location	2571	GAD1	OMIM:619124
HP:0100886	Abnormality of globe location	90416	CCDC32	OMIM:619123
HP:0100886	Abnormality of globe location	118924	FRA10AC1	OMIM:620113
HP:0100886	Abnormality of globe location	55252	ASXL2	OMIM:617190
HP:0100886	Abnormality of globe location	57020	VPS35L	OMIM:619135
HP:0100886	Abnormality of globe location	23154	NCDN	OMIM:619373
HP:0100886	Abnormality of globe location	55835	CENPJ	OMIM:608393
HP:0100886	Abnormality of globe location	3295	HSD17B4	OMIM:261515
HP:0100886	Abnormality of globe location	22800	RRAS2	ORPHA:648
HP:0100886	Abnormality of globe location	867	CBL	ORPHA:648
HP:0100886	Abnormality of globe location	867	CBL	OMIM:613563
HP:0100886	Abnormality of globe location	6237	RRAS	ORPHA:648
HP:0100886	Abnormality of globe location	3845	KRAS	ORPHA:648
HP:0100886	Abnormality of globe location	3845	KRAS	ORPHA:1340
HP:0100886	Abnormality of globe location	3845	KRAS	OMIM:609942
HP:0100886	Abnormality of globe location	5922	RASA2	ORPHA:648
HP:0100886	Abnormality of globe location	11011	TLK2	OMIM:618050
HP:0100886	Abnormality of globe location	129285	PPP1R21	OMIM:619383
HP:0100886	Abnormality of globe location	5567	PRKACB	OMIM:619143
HP:0100886	Abnormality of globe location	221692	PHACTR1	OMIM:618298
HP:0100886	Abnormality of globe location	6499	SKIC2	ORPHA:84064
HP:0100886	Abnormality of globe location	6499	SKIC2	OMIM:614602
HP:0100886	Abnormality of globe location	5605	MAP2K2	ORPHA:638
HP:0100886	Abnormality of globe location	5605	MAP2K2	ORPHA:1340
HP:0100886	Abnormality of globe location	11113	CIT	OMIM:617090
HP:0100886	Abnormality of globe location	10128	LRPPRC	OMIM:220111
HP:0100886	Abnormality of globe location	9131	AIFM1	OMIM:300232
HP:0100886	Abnormality of globe location	341640	FREM2	ORPHA:2052
HP:0100886	Abnormality of globe location	23426	GRIP1	ORPHA:2052
HP:0100886	Abnormality of globe location	95	ACY1	ORPHA:137754
HP:0100886	Abnormality of globe location	95	ACY1	OMIM:609924
HP:0100886	Abnormality of globe location	118987	PDZD8	OMIM:620021
HP:0100886	Abnormality of globe location	2629	GBA1	OMIM:608013
HP:0100886	Abnormality of globe location	58	ACTA1	ORPHA:171433
HP:0100886	Abnormality of globe location	58	ACTA1	ORPHA:171439
HP:0100886	Abnormality of globe location	10324	KLHL41	ORPHA:171433
HP:0100886	Abnormality of globe location	10324	KLHL41	ORPHA:171439
HP:0100886	Abnormality of globe location	7170	TPM3	ORPHA:171433
HP:0100886	Abnormality of globe location	7170	TPM3	ORPHA:171439
HP:0100886	Abnormality of globe location	9442	MED27	OMIM:619286
HP:0100886	Abnormality of globe location	6595	SMARCA2	OMIM:619293
HP:0100886	Abnormality of globe location	3899	AFF3	OMIM:619297
HP:0100886	Abnormality of globe location	4591	TRIM37	OMIM:253250
HP:0100886	Abnormality of globe location	10352	WARS2	ORPHA:572798
HP:0100886	Abnormality of globe location	4338	MOCS2	OMIM:252160
HP:0100886	Abnormality of globe location	1302	COL11A2	ORPHA:2021
HP:0100886	Abnormality of globe location	657	BMPR1A	ORPHA:79076
HP:0100886	Abnormality of globe location	5826	ABCD4	OMIM:614857
HP:0100886	Abnormality of globe location	26227	PHGDH	OMIM:256520
HP:0100886	Abnormality of globe location	5190	PEX6	OMIM:614862
HP:0100886	Abnormality of globe location	5190	PEX6	OMIM:614863
HP:0100886	Abnormality of globe location	1857	DVL3	ORPHA:3107
HP:0100886	Abnormality of globe location	1857	DVL3	OMIM:616894
HP:0100886	Abnormality of globe location	5828	PEX2	OMIM:614866
HP:0100886	Abnormality of globe location	81031	SLC2A10	ORPHA:3342
HP:0100886	Abnormality of globe location	81031	SLC2A10	OMIM:208050
HP:0100886	Abnormality of globe location	55027	HEATR3	OMIM:620072
HP:0100886	Abnormality of globe location	78989	COLEC11	OMIM:265050
HP:0100886	Abnormality of globe location	78989	COLEC11	ORPHA:293843
HP:0100886	Abnormality of globe location	5159	PDGFRB	OMIM:601812
HP:0100886	Abnormality of globe location	5832	ALDH18A1	OMIM:219150
HP:0100886	Abnormality of globe location	10430	TMEM147	OMIM:620075
HP:0100886	Abnormality of globe location	4677	NARS1	OMIM:619092
HP:0100886	Abnormality of globe location	8504	PEX3	OMIM:614882
HP:0100886	Abnormality of globe location	84665	MYPN	ORPHA:171439
HP:0100886	Abnormality of globe location	7169	TPM2	ORPHA:171439
HP:0100886	Abnormality of globe location	390594	KBTBD13	ORPHA:171439
HP:0100886	Abnormality of globe location	55681	SCYL2	ORPHA:1143
HP:0100886	Abnormality of globe location	84570	COL25A1	ORPHA:1143
HP:0100886	Abnormality of globe location	57222	ERGIC1	ORPHA:1143
HP:0100886	Abnormality of globe location	4313	MMP2	OMIM:259600
HP:0100886	Abnormality of globe location	27152	INTU	OMIM:617925
HP:0100886	Abnormality of globe location	1144	CHRND	OMIM:253290
HP:0100886	Abnormality of globe location	1134	CHRNA1	OMIM:253290
HP:0100886	Abnormality of globe location	6938	TCF12	ORPHA:35099
HP:0100886	Abnormality of globe location	7545	ZIC1	ORPHA:35099
HP:0100886	Abnormality of globe location	7545	ZIC1	OMIM:616602
HP:0100886	Abnormality of globe location	579	NKX3-2	OMIM:613330
HP:0100886	Abnormality of globe location	51621	KLF13	OMIM:612001
HP:0100886	Abnormality of globe location	1139	CHRNA7	OMIM:612001
HP:0100886	Abnormality of globe location	113179	ADAT3	ORPHA:363528
HP:0100886	Abnormality of globe location	55784	MCTP2	ORPHA:1596
HP:0100886	Abnormality of globe location	30008	EFEMP2	OMIM:614437
HP:0100886	Abnormality of globe location	10265	IRX5	OMIM:611174
HP:0100886	Abnormality of globe location	5530	PPP3CA	OMIM:617711
HP:0100886	Abnormality of globe location	5925	RB1	ORPHA:1587
HP:0100886	Abnormality of globe location	5604	MAP2K1	ORPHA:1340
HP:0100886	Abnormality of globe location	5604	MAP2K1	OMIM:163950
HP:0100886	Abnormality of globe location	9325	TRIP4	OMIM:616866
HP:0100886	Abnormality of globe location	2248	FGF3	ORPHA:90024
HP:0100886	Abnormality of globe location	7067	THRA	OMIM:614450
HP:0100886	Abnormality of globe location	57572	DOCK6	OMIM:614219
HP:0100886	Abnormality of globe location	59336	PRDM13	OMIM:619909
HP:0100886	Abnormality of globe location	4337	MOCS1	OMIM:252150
HP:0100886	Abnormality of globe location	51524	TMEM138	OMIM:614465
HP:0100886	Abnormality of globe location	4659	PPP1R12A	OMIM:618820
HP:0100886	Abnormality of globe location	54796	BNC2	ORPHA:93110
HP:0100886	Abnormality of globe location	26047	CNTNAP2	ORPHA:163681
HP:0100886	Abnormality of globe location	54870	QRICH1	OMIM:617982
HP:0100886	Abnormality of globe location	83737	ITCH	OMIM:613385
HP:0100886	Abnormality of globe location	202018	TAPT1	OMIM:616897
HP:0100886	Abnormality of globe location	6608	SMO	ORPHA:1553
HP:0100886	Abnormality of globe location	4841	NONO	ORPHA:466791
HP:0100886	Abnormality of globe location	9320	TRIP12	OMIM:617752
HP:0100886	Abnormality of globe location	738	VPS51	OMIM:618606
HP:0100886	Abnormality of globe location	10312	TCIRG1	ORPHA:1782
HP:0100886	Abnormality of globe location	55315	SLC29A3	ORPHA:1782
HP:0100886	Abnormality of globe location	8792	TNFRSF11A	ORPHA:1782
HP:0100886	Abnormality of globe location	5430	POLR2A	OMIM:618603
HP:0100886	Abnormality of globe location	26229	B3GAT3	OMIM:245600
HP:0100886	Abnormality of globe location	5307	PITX1	OMIM:119800
HP:0100886	Abnormality of globe location	92935	MARS2	OMIM:616430
HP:0100886	Abnormality of globe location	7043	TGFB3	OMIM:615582
HP:0100886	Abnormality of globe location	7043	TGFB3	ORPHA:91387
HP:0100886	Abnormality of globe location	4629	MYH11	ORPHA:91387
HP:0100886	Abnormality of globe location	4015	LOX	ORPHA:91387
HP:0100886	Abnormality of globe location	4087	SMAD2	ORPHA:91387
HP:0100886	Abnormality of globe location	59	ACTA2	ORPHA:91387
HP:0100886	Abnormality of globe location	5592	PRKG1	ORPHA:91387
HP:0100886	Abnormality of globe location	2301	FOXE3	ORPHA:91387
HP:0100886	Abnormality of globe location	4144	MAT2A	ORPHA:91387
HP:0100886	Abnormality of globe location	23493	HEY2	ORPHA:91387
HP:0100886	Abnormality of globe location	8076	MFAP5	ORPHA:91387
HP:0100886	Abnormality of globe location	4638	MYLK	ORPHA:91387
HP:0100886	Abnormality of globe location	2006	ELN	ORPHA:91387
HP:0100886	Abnormality of globe location	63901	FAM111A	ORPHA:93325
HP:0100886	Abnormality of globe location	9990	SLC12A6	OMIM:218000
HP:0100886	Abnormality of globe location	2137	EXTL3	ORPHA:508533
HP:0100886	Abnormality of globe location	2294	FOXF1	OMIM:265380
HP:0100886	Abnormality of globe location	4621	MYH3	ORPHA:2053
HP:0100886	Abnormality of globe location	4621	MYH3	OMIM:193700
HP:0100886	Abnormality of globe location	259232	NALCN	ORPHA:2053
HP:0100886	Abnormality of globe location	8367	H4C5	OMIM:619950
HP:0100886	Abnormality of globe location	1161	ERCC8	ORPHA:90324
HP:0100886	Abnormality of globe location	1161	ERCC8	ORPHA:90321
HP:0100886	Abnormality of globe location	1161	ERCC8	OMIM:216400
HP:0100886	Abnormality of globe location	2074	ERCC6	ORPHA:90324
HP:0100886	Abnormality of globe location	2074	ERCC6	ORPHA:90321
HP:0100886	Abnormality of globe location	2074	ERCC6	OMIM:214150
HP:0100886	Abnormality of globe location	2074	ERCC6	OMIM:133540
HP:0100886	Abnormality of globe location	10059	DNM1L	OMIM:614388
HP:0100886	Abnormality of globe location	91801	ALKBH8	OMIM:618504
HP:0100886	Abnormality of globe location	10274	STAG1	ORPHA:502434
HP:0100886	Abnormality of globe location	10274	STAG1	OMIM:617635
HP:0100886	Abnormality of globe location	5457	POU4F1	ORPHA:314647
HP:0100886	Abnormality of globe location	23261	CAMTA1	ORPHA:314647
HP:0100886	Abnormality of globe location	9839	ZEB2	OMIM:235730
HP:0100886	Abnormality of globe location	9839	ZEB2	ORPHA:261552
HP:0100886	Abnormality of globe location	9839	ZEB2	ORPHA:261537
HP:0100886	Abnormality of globe location	91147	TMEM67	OMIM:602152
HP:0100886	Abnormality of globe location	91147	TMEM67	ORPHA:140976
HP:0100886	Abnormality of globe location	2072	ERCC4	ORPHA:90321
HP:0100886	Abnormality of globe location	2072	ERCC4	OMIM:610965
HP:0100886	Abnormality of globe location	2072	ERCC4	OMIM:278760
HP:0100886	Abnormality of globe location	4983	OPHN1	OMIM:300486
HP:0100886	Abnormality of globe location	4983	OPHN1	ORPHA:137831
HP:0100886	Abnormality of globe location	116931	MED12L	OMIM:618872
HP:0100886	Abnormality of globe location	3020	H3-3A	OMIM:619720
HP:0100886	Abnormality of globe location	613	BCR	ORPHA:261330
HP:0100886	Abnormality of globe location	1399	CRKL	ORPHA:261330
HP:0100886	Abnormality of globe location	5594	MAPK1	ORPHA:261330
HP:0100886	Abnormality of globe location	80816	ASXL3	OMIM:615485
HP:0100886	Abnormality of globe location	27245	AHDC1	ORPHA:412069
HP:0100886	Abnormality of globe location	22858	CILK1	OMIM:612651
HP:0100886	Abnormality of globe location	55904	KMT2E	OMIM:618512
HP:0100886	Abnormality of globe location	80055	PGAP1	OMIM:615802
HP:0100886	Abnormality of globe location	129563	DIS3L2	ORPHA:2849
HP:0100886	Abnormality of globe location	2314	FLII	ORPHA:819
HP:0100886	Abnormality of globe location	23096	IQSEC2	ORPHA:819
HP:0100886	Abnormality of globe location	10743	RAI1	ORPHA:819
HP:0100886	Abnormality of globe location	10743	RAI1	OMIM:182290
HP:0100886	Abnormality of globe location	10522	DEAF1	ORPHA:819
HP:0100886	Abnormality of globe location	10847	SRCAP	ORPHA:2044
HP:0100886	Abnormality of globe location	10847	SRCAP	OMIM:136140
HP:0100886	Abnormality of globe location	28960	DCPS	OMIM:616459
HP:0100886	Abnormality of globe location	9915	ARNT2	OMIM:615926
HP:0100886	Abnormality of globe location	10559	SLC35A1	OMIM:603585
HP:0100886	Abnormality of globe location	28958	COA3	OMIM:619058
HP:0100886	Abnormality of globe location	2892	GRIA3	OMIM:300699
HP:0100886	Abnormality of globe location	2892	GRIA3	ORPHA:364028
HP:0100886	Abnormality of globe location	1351	COX8A	OMIM:619059
HP:0100886	Abnormality of globe location	55870	ASH1L	OMIM:617796
HP:0100886	Abnormality of globe location	8913	CACNA1G	OMIM:618087
HP:0100886	Abnormality of globe location	9739	SETD1A	OMIM:619056
HP:0100886	Abnormality of globe location	80204	FBXO11	OMIM:618089
HP:0100886	Abnormality of globe location	816	CAMK2B	OMIM:617799
HP:0100886	Abnormality of globe location	93627	TBCK	OMIM:616900
HP:0100886	Abnormality of globe location	93627	TBCK	ORPHA:488632
HP:0100886	Abnormality of globe location	79184	BRCC3	ORPHA:280679
HP:0100886	Abnormality of globe location	10015	PDCD6IP	OMIM:620047
HP:0100886	Abnormality of globe location	2697	GJA1	ORPHA:2710
HP:0100886	Abnormality of globe location	2697	GJA1	OMIM:257850
HP:0100886	Abnormality of globe location	2626	GATA4	ORPHA:251071
HP:0100886	Abnormality of globe location	23116	TOGARAM1	OMIM:619185
HP:0100886	Abnormality of globe location	9377	COX5A	OMIM:619064
HP:0100886	Abnormality of globe location	6872	TAF1	ORPHA:480907
HP:0100886	Abnormality of globe location	6872	TAF1	OMIM:300966
HP:0100886	Abnormality of globe location	57531	HACE1	ORPHA:464282
HP:0100886	Abnormality of globe location	1281	COL3A1	ORPHA:286
HP:0100886	Abnormality of globe location	1281	COL3A1	OMIM:618343
HP:0100886	Abnormality of globe location	4212	MEIS2	OMIM:600987
HP:0100886	Abnormality of globe location	4212	MEIS2	ORPHA:261190
HP:0100886	Abnormality of globe location	5528	PPP2R5D	OMIM:616355
HP:0100886	Abnormality of globe location	23327	NEDD4L	OMIM:617201
HP:0100886	Abnormality of globe location	132158	GLYCTK	OMIM:220120
HP:0100886	Abnormality of globe location	833	CARS1	OMIM:618891
HP:0100886	Abnormality of globe location	2783	GNB2	OMIM:619503
HP:0100886	Abnormality of globe location	26057	ANKRD17	OMIM:619504
HP:0100886	Abnormality of globe location	25942	SIN3A	OMIM:613406
HP:0100886	Abnormality of globe location	54496	PRMT7	ORPHA:464288
HP:0100886	Abnormality of globe location	54496	PRMT7	OMIM:617157
HP:0100886	Abnormality of globe location	2200	FBN1	OMIM:616914
HP:0100886	Abnormality of globe location	2200	FBN1	ORPHA:284979
HP:0100886	Abnormality of globe location	2200	FBN1	OMIM:154700
HP:0100886	Abnormality of globe location	57167	SALL4	ORPHA:233
HP:0100886	Abnormality of globe location	9935	MAFB	ORPHA:233
HP:0100886	Abnormality of globe location	1123	CHN1	ORPHA:233
HP:0100886	Abnormality of globe location	4953	ODC1	OMIM:619075
HP:0100886	Abnormality of globe location	4953	ODC1	ORPHA:544488
HP:0100886	Abnormality of globe location	10801	SEPTIN9	OMIM:162100
HP:0100886	Abnormality of globe location	7840	ALMS1	ORPHA:64
HP:0100886	Abnormality of globe location	6792	CDKL5	OMIM:300672
HP:0100886	Abnormality of globe location	6792	CDKL5	ORPHA:505652
HP:0100886	Abnormality of globe location	253738	EBF3	OMIM:617330
HP:0100886	Abnormality of globe location	6905	TBCE	OMIM:241410
HP:0100886	Abnormality of globe location	6905	TBCE	ORPHA:2323
HP:0100886	Abnormality of globe location	57498	KIDINS220	ORPHA:521390
HP:0100886	Abnormality of globe location	57498	KIDINS220	OMIM:617296
HP:0100886	Abnormality of globe location	5063	PAK3	OMIM:300558
HP:0100886	Abnormality of globe location	55699	IARS2	OMIM:616007
HP:0100886	Abnormality of globe location	4803	NGF	ORPHA:64752
HP:0100886	Abnormality of globe location	4914	NTRK1	ORPHA:64752
HP:0100886	Abnormality of globe location	5290	PIK3CA	ORPHA:60040
HP:0100886	Abnormality of globe location	5590	PRKCZ	ORPHA:1606
HP:0100886	Abnormality of globe location	2563	GABRD	ORPHA:1606
HP:0100886	Abnormality of globe location	23013	SPEN	ORPHA:1606
HP:0100886	Abnormality of globe location	23013	SPEN	OMIM:619312
HP:0100886	Abnormality of globe location	8510	MMP23B	ORPHA:1606
HP:0100886	Abnormality of globe location	7798	LUZP1	ORPHA:1606
HP:0100886	Abnormality of globe location	6497	SKI	ORPHA:1606
HP:0100886	Abnormality of globe location	10630	PDPN	ORPHA:1606
HP:0100886	Abnormality of globe location	3339	HSPG2	ORPHA:1606
HP:0100886	Abnormality of globe location	10277	UBE4B	ORPHA:1606
HP:0100886	Abnormality of globe location	8514	KCNAB2	ORPHA:1606
HP:0100886	Abnormality of globe location	473	RERE	ORPHA:1606
HP:0100886	Abnormality of globe location	473	RERE	OMIM:616975
HP:0100886	Abnormality of globe location	63976	PRDM16	ORPHA:1606
HP:0100886	Abnormality of globe location	54897	CASZ1	ORPHA:1606
HP:0100886	Abnormality of globe location	10056	FARSB	OMIM:613658
HP:0100886	Abnormality of globe location	4784	NFIX	ORPHA:420179
HP:0100886	Abnormality of globe location	6638	SNRPN	OMIM:105830
HP:0100886	Abnormality of globe location	6638	SNRPN	ORPHA:177907
HP:0100886	Abnormality of globe location	7337	UBE3A	OMIM:105830
HP:0100886	Abnormality of globe location	11128	POLR3A	OMIM:264090
HP:0100886	Abnormality of globe location	11128	POLR3A	ORPHA:447896
HP:0100886	Abnormality of globe location	11128	POLR3A	ORPHA:3455
HP:0100886	Abnormality of globe location	1859	DYRK1A	ORPHA:464311
HP:0100886	Abnormality of globe location	1859	DYRK1A	ORPHA:268261
HP:0100886	Abnormality of globe location	1859	DYRK1A	OMIM:614104
HP:0100886	Abnormality of globe location	84992	PIGY	OMIM:616809
HP:0100886	Abnormality of globe location	145258	GSC	OMIM:602471
HP:0100886	Abnormality of globe location	79759	ZNF668	OMIM:620194
HP:0100886	Abnormality of globe location	51611	DPH5	OMIM:620070
HP:0100886	Abnormality of globe location	79718	TBL1XR1	OMIM:602342
HP:0100886	Abnormality of globe location	79718	TBL1XR1	ORPHA:487825
HP:0100886	Abnormality of globe location	79228	THOC6	ORPHA:363444
HP:0100886	Abnormality of globe location	79228	THOC6	OMIM:613680
HP:0100886	Abnormality of globe location	55210	ATAD3A	ORPHA:496790
HP:0100886	Abnormality of globe location	55210	ATAD3A	OMIM:617183
HP:0100886	Abnormality of globe location	57459	GATAD2B	ORPHA:363686
HP:0100886	Abnormality of globe location	57459	GATAD2B	OMIM:615074
HP:0100886	Abnormality of globe location	26137	ZBTB20	OMIM:259050
HP:0100886	Abnormality of globe location	8314	BAP1	OMIM:619762
HP:0100886	Abnormality of globe location	4089	SMAD4	OMIM:139210
HP:0100886	Abnormality of globe location	253959	RALGAPA1	OMIM:618797
HP:0100886	Abnormality of globe location	7358	UGDH	OMIM:618792
HP:0100886	Abnormality of globe location	4849	CNOT3	OMIM:618672
HP:0100886	Abnormality of globe location	6942	TCF20	OMIM:618430
HP:0100886	Abnormality of globe location	81887	LAS1L	ORPHA:3459
HP:0100886	Abnormality of globe location	55869	HDAC8	ORPHA:3459
HP:0100886	Abnormality of globe location	55869	HDAC8	OMIM:300882
HP:0100886	Abnormality of globe location	4285	MIPEP	OMIM:617228
HP:0100886	Abnormality of globe location	9158	FIBP	OMIM:617107
HP:0100886	Abnormality of globe location	9158	FIBP	ORPHA:500095
HP:0100886	Abnormality of globe location	5591	PRKDC	OMIM:615966
HP:0100886	Abnormality of globe location	182	JAG1	OMIM:118450
HP:0100886	Abnormality of globe location	63895	PIEZO2	ORPHA:1154
HP:0100886	Abnormality of globe location	63895	PIEZO2	OMIM:108145
HP:0100886	Abnormality of globe location	9772	TMEM94	OMIM:618316
HP:0100886	Abnormality of globe location	6901	TAFAZZIN	OMIM:302060
HP:0100886	Abnormality of globe location	388015	RTL1	ORPHA:96334
HP:0100886	Abnormality of globe location	8788	DLK1	ORPHA:96334
HP:0100886	Abnormality of globe location	55384	MEG3	ORPHA:96334
HP:0100886	Abnormality of globe location	6714	SRC	OMIM:616937
HP:0100886	Abnormality of globe location	6925	TCF4	OMIM:610954
HP:0100886	Abnormality of globe location	6925	TCF4	ORPHA:2896
HP:0100886	Abnormality of globe location	5354	PLP1	ORPHA:280229
HP:0100886	Abnormality of globe location	23065	EMC1	ORPHA:480898
HP:0100886	Abnormality of globe location	23065	EMC1	OMIM:616875
HP:0100886	Abnormality of globe location	4208	MEF2C	ORPHA:228384
HP:0100886	Abnormality of globe location	4208	MEF2C	OMIM:613443
HP:0100886	Abnormality of globe location	51322	WAC	ORPHA:284169
HP:0100886	Abnormality of globe location	51322	WAC	OMIM:616708
HP:0100886	Abnormality of globe location	51322	WAC	ORPHA:466950
HP:0100886	Abnormality of globe location	5295	PIK3R1	OMIM:269880
HP:0100886	Abnormality of globe location	5295	PIK3R1	ORPHA:3163
HP:0100886	Abnormality of globe location	8242	KDM5C	OMIM:300534
HP:0100886	Abnormality of globe location	8242	KDM5C	ORPHA:85279
HP:0100886	Abnormality of globe location	23162	MAPK8IP3	OMIM:618443
HP:0100886	Abnormality of globe location	79989	IFT56	OMIM:619534
HP:0100886	Abnormality of globe location	9319	TRIP13	OMIM:617598
HP:0100886	Abnormality of globe location	57479	PRR12	OMIM:619539
HP:0100886	Abnormality of globe location	8565	YARS1	OMIM:619418
HP:0100886	Abnormality of globe location	729920	CRPPA	OMIM:614643
HP:0100886	Abnormality of globe location	7994	KAT6A	OMIM:616268
HP:0100886	Abnormality of globe location	51574	LARP7	ORPHA:319671
HP:0100886	Abnormality of globe location	51574	LARP7	OMIM:615071
HP:0100886	Abnormality of globe location	79791	FBXO31	OMIM:615979
HP:0100886	Abnormality of globe location	1487	CTBP1	OMIM:617915
HP:0100886	Abnormality of globe location	84295	PHF6	ORPHA:127
HP:0100886	Abnormality of globe location	84295	PHF6	OMIM:301900
HP:0100886	Abnormality of globe location	84876	ORAI1	ORPHA:3204
HP:0100886	Abnormality of globe location	6786	STIM1	ORPHA:3204
HP:0100886	Abnormality of globe location	6786	STIM1	OMIM:185070
HP:0100886	Abnormality of globe location	1387	CREBBP	OMIM:618332
HP:0100886	Abnormality of globe location	1387	CREBBP	OMIM:180849
HP:0100886	Abnormality of globe location	8295	TRRAP	OMIM:618454
HP:0100886	Abnormality of globe location	1917	EEF1A2	OMIM:616393
HP:0100886	Abnormality of globe location	55212	BBS7	OMIM:615984
HP:0100886	Abnormality of globe location	2702	GJA5	OMIM:612474
HP:0100886	Abnormality of globe location	2703	GJA8	OMIM:612474
HP:0100886	Abnormality of globe location	81603	TRIM8	OMIM:619428
HP:0100886	Abnormality of globe location	8905	AP1S2	OMIM:304340
HP:0100886	Abnormality of globe location	3720	JARID2	OMIM:620098
HP:0100886	Abnormality of globe location	10075	HUWE1	OMIM:309590
HP:0100886	Abnormality of globe location	55906	ZC4H2	OMIM:301041
HP:0100886	Abnormality of globe location	27238	GPKOW	ORPHA:2570
HP:0100886	Abnormality of globe location	56896	DPYSL5	OMIM:619435
HP:0100886	Abnormality of globe location	54517	PUS7	OMIM:618342
HP:0100886	Abnormality of globe location	9759	HDAC4	ORPHA:1001
HP:0100886	Abnormality of globe location	9759	HDAC4	OMIM:600430
HP:0100886	Abnormality of globe location	65062	TMEM237	OMIM:614424
HP:0100886	Abnormality of globe location	85358	SHANK3	OMIM:606232
HP:0100886	Abnormality of globe location	85358	SHANK3	ORPHA:48652
HP:0100886	Abnormality of globe location	128869	PIGU	OMIM:618590
HP:0100886	Abnormality of globe location	5631	PRPS1	ORPHA:423479
HP:0100886	Abnormality of globe location	29998	BICRA	OMIM:619325
HP:0100886	Abnormality of globe location	6651	SON	OMIM:617140
HP:0100886	Abnormality of globe location	6651	SON	ORPHA:500150
HP:0100886	Abnormality of globe location	57520	HECW2	OMIM:617268
HP:0100886	Abnormality of globe location	8882	ZPR1	OMIM:619321
HP:0100886	Abnormality of globe location	5831	PYCR1	OMIM:614438
HP:0100886	Abnormality of globe location	5831	PYCR1	OMIM:612940
HP:0100886	Abnormality of globe location	5339	PLEC	OMIM:612138
HP:0100886	Abnormality of globe location	1289	COL5A1	OMIM:619329
HP:0100886	Abnormality of globe location	2068	ERCC2	OMIM:610756
HP:0100886	Abnormality of globe location	4952	OCRL	ORPHA:534
HP:0100886	Abnormality of globe location	2067	ERCC1	OMIM:610758
HP:0100886	Abnormality of globe location	84679	SLC9A7	OMIM:301024
HP:0100886	Abnormality of globe location	90161	HS6ST2	OMIM:301025
HP:0100886	Abnormality of globe location	1725	DHPS	OMIM:618480
HP:0100886	Abnormality of globe location	23221	RHOBTB2	OMIM:618004
HP:0100886	Abnormality of globe location	22930	RAB3GAP1	OMIM:600118
HP:0100886	Abnormality of globe location	8831	SYNGAP1	ORPHA:544254
HP:0100886	Abnormality of globe location	8260	NAA10	OMIM:300855
HP:0100886	Abnormality of globe location	6774	STAT3	ORPHA:2314
HP:0100886	Abnormality of globe location	92344	GORAB	OMIM:231070
HP:0100886	Abnormality of globe location	1063	CENPF	OMIM:243605
HP:0100886	Abnormality of globe location	1000	CDH2	OMIM:618929
HP:0100886	Abnormality of globe location	6821	SUOX	OMIM:272300
HP:0100886	Abnormality of globe location	22827	PUF60	ORPHA:508488
HP:0100886	Abnormality of globe location	6045	RNF2	OMIM:619460
HP:0100886	Abnormality of globe location	7319	UBE2A	OMIM:300860
HP:0100886	Abnormality of globe location	10943	MSL3	OMIM:301032
HP:0100886	Abnormality of globe location	8091	HMGA2	ORPHA:94063
HP:0100886	Abnormality of globe location	23592	LEMD3	ORPHA:94063
HP:0100886	Abnormality of globe location	5718	PSMD12	ORPHA:529962
HP:0100886	Abnormality of globe location	2186	BPTF	ORPHA:529962
HP:0100886	Abnormality of globe location	3977	LIFR	OMIM:601559
HP:0100886	Abnormality of globe location	80185	TTI2	OMIM:615541
HP:0100886	Abnormality of globe location	80185	TTI2	ORPHA:391307
HP:0100886	Abnormality of globe location	1822	ATN1	OMIM:618494
HP:0100886	Abnormality of globe location	26040	SETBP1	OMIM:616078
HP:0100886	Abnormality of globe location	25	ABL1	OMIM:617602
HP:0100886	Abnormality of globe location	128637	TBC1D20	OMIM:615663
HP:0100886	Abnormality of globe location	55644	OSGEP	OMIM:617729
HP:0100886	Abnormality of globe location	4763	NF1	ORPHA:97685
HP:0100886	Abnormality of globe location	50801	KCNK4	OMIM:618381
HP:0100886	Abnormality of globe location	10664	CTCF	ORPHA:363611
HP:0100886	Abnormality of globe location	134218	DNAJC21	OMIM:617052
HP:0100886	Abnormality of globe location	10526	IPO8	OMIM:619472
HP:0100886	Abnormality of globe location	6711	SPTBN1	OMIM:619475
HP:0100886	Abnormality of globe location	2033	EP300	OMIM:180849
HP:0100886	Abnormality of globe location	25782	RAB3GAP2	OMIM:614225
HP:0100886	Abnormality of globe location	51002	TPRKB	OMIM:617731
HP:0100886	Abnormality of globe location	285590	SH3PXD2B	ORPHA:137834
HP:0100886	Abnormality of globe location	80036	TRPM3	OMIM:620224
HP:0100886	Abnormality of globe location	8405	SPOP	OMIM:618828
HP:0100886	Abnormality of globe location	8405	SPOP	OMIM:618829
HP:0100886	Abnormality of globe location	5293	PIK3CD	ORPHA:221139
HP:0100886	Abnormality of globe location	90417	KNSTRN	ORPHA:221139
HP:0100886	Abnormality of globe location	8936	WASF1	OMIM:618707
HP:0100886	Abnormality of globe location	5058	PAK1	OMIM:618158
HP:0100886	Abnormality of globe location	9702	CEP57	OMIM:614114
HP:0100886	Abnormality of globe location	57038	RARS2	OMIM:611523
HP:0100886	Abnormality of globe location	2799	GNS	OMIM:252940
HP:0100886	Abnormality of globe location	80267	EDEM3	OMIM:619493
HP:0100886	Abnormality of globe location	6748	SSR4	ORPHA:370927
HP:0100886	Abnormality of globe location	6748	SSR4	OMIM:300934
HP:0100886	Abnormality of globe location	6904	TBCD	OMIM:617193
HP:0100886	Abnormality of globe location	2332	FMR1	ORPHA:261483
HP:0100886	Abnormality of globe location	7518	XRCC4	OMIM:616541
HP:0100886	Abnormality of globe location	10479	SLC9A6	ORPHA:85278
HP:0100886	Abnormality of globe location	55023	PHIP	OMIM:617991
HP:0100886	Abnormality of globe location	2193	FARSA	OMIM:619013
HP:0100886	Abnormality of globe location	1984	EIF5A	OMIM:619376
HP:0100886	Abnormality of globe location	178	AGL	OMIM:232400
HP:0100886	Abnormality of globe location	55733	HHAT	ORPHA:1422
HP:0100886	Abnormality of globe location	5449	POU1F1	OMIM:613038
HP:0100886	Abnormality of globe location	9757	KMT2B	OMIM:619934
HP:0100886	Abnormality of globe location	23418	CRB1	OMIM:613835
HP:0100886	Abnormality of globe location	4693	NDP	ORPHA:649
HP:0100886	Abnormality of globe location	4693	NDP	OMIM:305390
HP:0100886	Abnormality of globe location	6913	TBX15	ORPHA:93333
HP:0100886	Abnormality of globe location	6913	TBX15	OMIM:260660
HP:0100886	Abnormality of globe location	27161	AGO2	OMIM:619149
HP:0100886	Abnormality of globe location	23404	EXOSC2	OMIM:617763
HP:0100886	Abnormality of globe location	1806	DPYD	ORPHA:293948
HP:0100886	Abnormality of globe location	2902	GRIN1	OMIM:614254
HP:0100886	Abnormality of globe location	2036	EPB41L1	OMIM:614257
HP:0100886	Abnormality of globe location	4858	NOVA2	OMIM:618859
HP:0100886	Abnormality of globe location	219844	HYLS1	ORPHA:2189
HP:0100886	Abnormality of globe location	374654	KIF7	ORPHA:2189
HP:0100886	Abnormality of globe location	7042	TGFB2	OMIM:614816
HP:0100886	Abnormality of globe location	25886	POC1A	OMIM:614813
HP:0100886	Abnormality of globe location	3480	IGF1R	OMIM:270450
HP:0100886	Abnormality of globe location	3763	KCNJ6	ORPHA:435628
HP:0100886	Abnormality of globe location	3763	KCNJ6	OMIM:614098
HP:0100886	Abnormality of globe location	4287	ATXN3	OMIM:109150
HP:0100886	Abnormality of globe location	4287	ATXN3	ORPHA:276238
HP:0100886	Abnormality of globe location	4287	ATXN3	ORPHA:276244
HP:0100886	Abnormality of globe location	4287	ATXN3	ORPHA:276241
HP:0100886	Abnormality of globe location	5034	P4HB	ORPHA:2050
HP:0100886	Abnormality of globe location	5034	P4HB	OMIM:112240
HP:0100886	Abnormality of globe location	28981	IFT81	OMIM:617895
HP:0100886	Abnormality of globe location	775	CACNA1C	OMIM:620029
HP:0100886	Abnormality of globe location	7253	TSHR	ORPHA:99819
HP:0100886	Abnormality of globe location	7253	TSHR	ORPHA:424
HP:0100886	Abnormality of globe location	7253	TSHR	OMIM:609152
HP:0100886	Abnormality of globe location	7068	THRB	OMIM:274300
HP:0100886	Abnormality of globe location	10978	CLP1	OMIM:615803
HP:0100886	Abnormality of globe location	10978	CLP1	ORPHA:411493
HP:0100886	Abnormality of globe location	64175	P3H1	OMIM:610915
HP:0100886	Abnormality of globe location	6452	SH3BP2	OMIM:118400
HP:0100886	Abnormality of globe location	6452	SH3BP2	ORPHA:184
HP:0100886	Abnormality of globe location	7040	TGFB1	OMIM:131300
HP:0100886	Abnormality of globe location	7040	TGFB1	ORPHA:1328
HP:0100886	Abnormality of globe location	4524	MTHFR	ORPHA:563612
HP:0100886	Abnormality of globe location	57216	VANGL2	ORPHA:563612
HP:0100886	Abnormality of globe location	5424	POLD1	OMIM:615381
HP:0100886	Abnormality of globe location	26154	ABCA12	OMIM:242500
HP:0100886	Abnormality of globe location	54914	FOCAD	OMIM:619991
HP:0100886	Abnormality of globe location	1593	CYP27A1	ORPHA:909
HP:0100886	Abnormality of globe location	4771	NF2	ORPHA:2495
HP:0100886	Abnormality of globe location	6598	SMARCB1	ORPHA:2495
HP:0100886	Abnormality of globe location	5155	PDGFB	ORPHA:2495
HP:0100886	Abnormality of globe location	84231	TRAF7	ORPHA:2495
HP:0100886	Abnormality of globe location	7015	TERT	ORPHA:2495
HP:0100886	Abnormality of globe location	6605	SMARCE1	ORPHA:2495
HP:0100886	Abnormality of globe location	150468	CKAP2L	OMIM:272440
HP:0100886	Abnormality of globe location	1493	CTLA4	ORPHA:900
HP:0100886	Abnormality of globe location	26191	PTPN22	ORPHA:900
HP:0100886	Abnormality of globe location	3115	HLA-DPB1	ORPHA:900
HP:0100886	Abnormality of globe location	5657	PRTN3	ORPHA:900
HP:0100886	Abnormality of globe location	3113	HLA-DPA1	ORPHA:900
HP:0100886	Abnormality of globe location	54928	BPNT2	OMIM:614078
HP:0100886	Abnormality of globe location	3662	IRF4	ORPHA:3452
HP:0100886	Abnormality of globe location	114548	NLRP3	OMIM:607115
HP:0100886	Abnormality of globe location	114548	NLRP3	ORPHA:1451
HP:0100886	Abnormality of globe location	124583	CANT1	OMIM:251450
HP:0100886	Abnormality of globe location	124583	CANT1	ORPHA:1425
HP:0100886	Abnormality of globe location	23414	ZFPM2	OMIM:187500
HP:0100886	Abnormality of globe location	23414	ZFPM2	ORPHA:3303
HP:0100886	Abnormality of globe location	249	ALPL	OMIM:241510
HP:0100886	Abnormality of globe location	1028	CDKN1C	OMIM:130650
HP:0100886	Abnormality of globe location	10984	KCNQ1OT1	OMIM:130650
HP:0100886	Abnormality of globe location	3481	IGF2	OMIM:130650
HP:0100886	Abnormality of globe location	3784	KCNQ1	OMIM:130650
HP:0100886	Abnormality of globe location	25836	NIPBL	OMIM:122470
HP:0100886	Abnormality of globe location	28962	OSTM1	OMIM:259720
HP:0100886	Abnormality of globe location	4615	MYD88	ORPHA:33226
HP:0100886	Abnormality of globe location	58497	PRUNE1	OMIM:617481
HP:0100886	Abnormality of globe location	2335	FN1	ORPHA:93315
HP:0100886	Abnormality of globe location	3791	KDR	ORPHA:3303
HP:0100886	Abnormality of globe location	2657	GDF1	ORPHA:3303
HP:0100886	Abnormality of globe location	140628	GATA5	ORPHA:3303
HP:0100886	Abnormality of globe location	2324	FLT4	ORPHA:3303
HP:0100886	Abnormality of globe location	10370	CITED2	ORPHA:3303
HP:0100886	Abnormality of globe location	10733	PLK4	OMIM:616171
HP:0100886	Abnormality of globe location	221496	LEMD2	OMIM:619322
HP:0100886	Abnormality of globe location	10651	MTX2	ORPHA:90153
HP:0100886	Abnormality of globe location	10651	MTX2	OMIM:619127
HP:0100886	Abnormality of globe location	4052	LTBP1	OMIM:619451
HP:0100886	Abnormality of globe location	8120	AP3B2	OMIM:617276
HP:0100886	Abnormality of globe location	64131	XYLT1	OMIM:615777
HP:0100886	Abnormality of globe location	64131	XYLT1	ORPHA:370930
HP:0100886	Abnormality of globe location	64131	XYLT1	ORPHA:1425
HP:0100886	Abnormality of globe location	1781	DYNC1I2	OMIM:618492
HP:0100886	Abnormality of globe location	9419	CRIPT	OMIM:615789
HP:0100886	Abnormality of globe location	84265	POLR3GL	OMIM:619234
HP:0100886	Abnormality of globe location	23233	EXOC6B	ORPHA:93359
HP:0100886	Abnormality of globe location	91461	PKDCC	OMIM:618821
HP:0100886	Abnormality of globe location	2254	FGF9	OMIM:612961
HP:0100886	Abnormality of globe location	25839	COG4	OMIM:618150
HP:0100886	Abnormality of globe location	25839	COG4	ORPHA:85172
HP:0100886	Abnormality of globe location	8318	CDC45	OMIM:617063
HP:0100886	Abnormality of globe location	55755	CDK5RAP2	OMIM:604804
HP:0100886	Abnormality of globe location	23516	SLC39A14	OMIM:144755
HP:0100886	Abnormality of globe location	259266	ASPM	OMIM:608716
HP:0100886	Abnormality of globe location	10491	CRTAP	OMIM:610682
HP:0100886	Abnormality of globe location	8815	BANF1	OMIM:614008
HP:0100886	Abnormality of globe location	63916	ELMO2	OMIM:606893
HP:0100886	Abnormality of globe location	55790	CSGALNACT1	ORPHA:1425
HP:0100886	Abnormality of globe location	1513	CTSK	ORPHA:763
HP:0100886	Abnormality of globe location	27445	PCLO	OMIM:608027
HP:0100886	Abnormality of globe location	5696	PSMB8	OMIM:256040
HP:0100886	Abnormality of globe location	3190	HNRNPK	OMIM:616580
HP:0100886	Abnormality of globe location	3190	HNRNPK	ORPHA:352665
HP:0100886	Abnormality of globe location	3190	HNRNPK	ORPHA:453504
HP:0100886	Abnormality of globe location	57061	HYMAI	ORPHA:96191
HP:0100886	Abnormality of globe location	5325	PLAGL1	ORPHA:96191
HP:0100886	Abnormality of globe location	5422	POLA1	OMIM:301030
HP:0100886	Abnormality of globe location	8985	PLOD3	OMIM:612394
HP:0100886	Abnormality of globe location	4286	MITF	OMIM:617306
HP:0100886	Abnormality of globe location	871	SERPINH1	OMIM:613848
HP:0100886	Abnormality of globe location	81794	ADAMTS10	OMIM:277600
HP:0100886	Abnormality of globe location	84706	GPT2	OMIM:616281
HP:0100886	Abnormality of globe location	84706	GPT2	ORPHA:477673
HP:0100886	Abnormality of globe location	91452	ACBD5	OMIM:618863
HP:0100886	Abnormality of globe location	23019	CNOT1	OMIM:618500
HP:0100886	Abnormality of globe location	23019	CNOT1	ORPHA:556955
HP:0100886	Abnormality of globe location	55627	SMPD4	OMIM:618622
HP:0100886	Abnormality of globe location	8818	DPM2	ORPHA:329178
HP:0100886	Abnormality of globe location	8818	DPM2	OMIM:615042
HP:0100886	Abnormality of globe location	10060	ABCC9	OMIM:619719
HP:0100886	Abnormality of globe location	5575	PRKAR1B	OMIM:619680
HP:0100886	Abnormality of globe location	5859	QARS1	OMIM:615760
HP:0100886	Abnormality of globe location	2624	GATA2	OMIM:614038
HP:0100886	Abnormality of globe location	10157	AASS	ORPHA:2203
HP:0100886	Abnormality of globe location	55033	FKBP14	OMIM:614557
HP:0100886	Abnormality of globe location	26153	KIF26A	OMIM:620156
HP:0100886	Abnormality of globe location	5053	PAH	ORPHA:2209
HP:0100886	Abnormality of globe location	51098	IFT52	ORPHA:1515
HP:0100886	Abnormality of globe location	55764	IFT122	ORPHA:1515
HP:0100886	Abnormality of globe location	55764	IFT122	OMIM:218330
HP:0100886	Abnormality of globe location	57728	WDR19	ORPHA:1515
HP:0100886	Abnormality of globe location	84987	COX14	OMIM:619053
HP:0100886	Abnormality of globe location	16	AARS1	OMIM:619691
HP:0100886	Abnormality of globe location	537	ATP6AP1	OMIM:300972
HP:0100886	Abnormality of globe location	815	CAMK2A	OMIM:617798
HP:0100886	Abnormality of globe location	372	ARCN1	OMIM:617164
HP:0100886	Abnormality of globe location	5442	POLRMT	OMIM:619743
HP:0100886	Abnormality of globe location	51199	NIN	OMIM:614851
HP:0100886	Abnormality of globe location	51199	NIN	ORPHA:319675
HP:0100886	Abnormality of globe location	55154	MSTO1	ORPHA:502423
HP:0100886	Abnormality of globe location	8943	AP3D1	OMIM:617050
HP:0100886	Abnormality of globe location	2121	EVC	OMIM:193530
HP:0100886	Abnormality of globe location	132884	EVC2	OMIM:193530
HP:0100886	Abnormality of globe location	25914	RTTN	ORPHA:468631
HP:0100886	Abnormality of globe location	284252	KCTD1	OMIM:181270
HP:0100886	Abnormality of globe location	8239	USP9X	OMIM:300968
HP:0100886	Abnormality of globe location	84919	PPP1R15B	OMIM:616817
HP:0100886	Abnormality of globe location	84919	PPP1R15B	ORPHA:391408
HP:0100886	Abnormality of globe location	93587	TRMT10A	ORPHA:391408
HP:0100886	Abnormality of globe location	51085	MLXIPL	OMIM:194050
HP:0100886	Abnormality of globe location	84628	NTNG2	OMIM:618718
HP:0100886	Abnormality of globe location	4488	MSX2	OMIM:604757
HP:0100886	Abnormality of globe location	2678	GGT1	OMIM:231950
HP:0100886	Abnormality of globe location	284058	KANSL1	OMIM:610443
HP:0100886	Abnormality of globe location	1523	CUX1	OMIM:618330
HP:0100886	Abnormality of globe location	84148	KAT8	OMIM:618974
HP:0100886	Abnormality of globe location	1642	DDB1	OMIM:619426
HP:0100886	Abnormality of globe location	64858	DCLRE1B	OMIM:620133
HP:0100886	Abnormality of globe location	6469	SHH	OMIM:142945
HP:0100886	Abnormality of globe location	6469	SHH	ORPHA:280200
HP:0100886	Abnormality of globe location	6469	SHH	ORPHA:220386
HP:0100886	Abnormality of globe location	6469	SHH	ORPHA:93926
HP:0100886	Abnormality of globe location	6469	SHH	OMIM:147250
HP:0100886	Abnormality of globe location	6469	SHH	ORPHA:93924
HP:0100886	Abnormality of globe location	6469	SHH	ORPHA:93925
HP:0100886	Abnormality of globe location	2260	FGFR1	ORPHA:280200
HP:0100886	Abnormality of globe location	2260	FGFR1	ORPHA:220386
HP:0100886	Abnormality of globe location	2260	FGFR1	ORPHA:93924
HP:0100886	Abnormality of globe location	28514	DLL1	ORPHA:280200
HP:0100886	Abnormality of globe location	28514	DLL1	ORPHA:220386
HP:0100886	Abnormality of globe location	28514	DLL1	ORPHA:93926
HP:0100886	Abnormality of globe location	28514	DLL1	ORPHA:93924
HP:0100886	Abnormality of globe location	28514	DLL1	ORPHA:93925
HP:0100886	Abnormality of globe location	2253	FGF8	ORPHA:280200
HP:0100886	Abnormality of globe location	2253	FGF8	ORPHA:220386
HP:0100886	Abnormality of globe location	2253	FGF8	ORPHA:93926
HP:0100886	Abnormality of globe location	2253	FGF8	ORPHA:93924
HP:0100886	Abnormality of globe location	2253	FGF8	ORPHA:93925
HP:0100886	Abnormality of globe location	6496	SIX3	ORPHA:280200
HP:0100886	Abnormality of globe location	6496	SIX3	ORPHA:220386
HP:0100886	Abnormality of globe location	6496	SIX3	ORPHA:93926
HP:0100886	Abnormality of globe location	6496	SIX3	ORPHA:93924
HP:0100886	Abnormality of globe location	6496	SIX3	ORPHA:93925
HP:0100886	Abnormality of globe location	6496	SIX3	OMIM:157170
HP:0100886	Abnormality of globe location	7050	TGIF1	ORPHA:280200
HP:0100886	Abnormality of globe location	7050	TGIF1	ORPHA:220386
HP:0100886	Abnormality of globe location	7050	TGIF1	ORPHA:93926
HP:0100886	Abnormality of globe location	7050	TGIF1	ORPHA:93924
HP:0100886	Abnormality of globe location	7050	TGIF1	ORPHA:93925
HP:0100886	Abnormality of globe location	4838	NODAL	ORPHA:280200
HP:0100886	Abnormality of globe location	4838	NODAL	ORPHA:220386
HP:0100886	Abnormality of globe location	4838	NODAL	ORPHA:93926
HP:0100886	Abnormality of globe location	4838	NODAL	ORPHA:93924
HP:0100886	Abnormality of globe location	4838	NODAL	ORPHA:93925
HP:0100886	Abnormality of globe location	51684	SUFU	ORPHA:280200
HP:0100886	Abnormality of globe location	7546	ZIC2	ORPHA:280200
HP:0100886	Abnormality of globe location	7546	ZIC2	ORPHA:220386
HP:0100886	Abnormality of globe location	7546	ZIC2	ORPHA:93926
HP:0100886	Abnormality of globe location	7546	ZIC2	ORPHA:93924
HP:0100886	Abnormality of globe location	7546	ZIC2	ORPHA:93925
HP:0100886	Abnormality of globe location	2619	GAS1	ORPHA:280200
HP:0100886	Abnormality of globe location	2619	GAS1	ORPHA:220386
HP:0100886	Abnormality of globe location	2619	GAS1	ORPHA:93926
HP:0100886	Abnormality of globe location	2619	GAS1	ORPHA:93924
HP:0100886	Abnormality of globe location	2619	GAS1	ORPHA:93925
HP:0100886	Abnormality of globe location	84976	DISP1	ORPHA:280200
HP:0100886	Abnormality of globe location	84976	DISP1	ORPHA:220386
HP:0100886	Abnormality of globe location	84976	DISP1	ORPHA:93926
HP:0100886	Abnormality of globe location	84976	DISP1	ORPHA:93924
HP:0100886	Abnormality of globe location	84976	DISP1	ORPHA:93925
HP:0100886	Abnormality of globe location	2736	GLI2	ORPHA:280200
HP:0100886	Abnormality of globe location	2736	GLI2	ORPHA:220386
HP:0100886	Abnormality of globe location	2736	GLI2	ORPHA:93926
HP:0100886	Abnormality of globe location	2736	GLI2	ORPHA:93924
HP:0100886	Abnormality of globe location	2736	GLI2	ORPHA:93925
HP:0100886	Abnormality of globe location	8928	FOXH1	ORPHA:280200
HP:0100886	Abnormality of globe location	8928	FOXH1	ORPHA:220386
HP:0100886	Abnormality of globe location	8928	FOXH1	ORPHA:93926
HP:0100886	Abnormality of globe location	8928	FOXH1	ORPHA:93924
HP:0100886	Abnormality of globe location	8928	FOXH1	ORPHA:93925
HP:0100886	Abnormality of globe location	5727	PTCH1	ORPHA:280200
HP:0100886	Abnormality of globe location	5727	PTCH1	ORPHA:220386
HP:0100886	Abnormality of globe location	5727	PTCH1	ORPHA:93926
HP:0100886	Abnormality of globe location	5727	PTCH1	ORPHA:93924
HP:0100886	Abnormality of globe location	5727	PTCH1	ORPHA:93925
HP:0100886	Abnormality of globe location	50937	CDON	ORPHA:280200
HP:0100886	Abnormality of globe location	50937	CDON	ORPHA:220386
HP:0100886	Abnormality of globe location	50937	CDON	ORPHA:93926
HP:0100886	Abnormality of globe location	50937	CDON	ORPHA:93924
HP:0100886	Abnormality of globe location	50937	CDON	ORPHA:93925
HP:0100886	Abnormality of globe location	10735	STAG2	OMIM:301043
HP:0100886	Abnormality of globe location	10735	STAG2	ORPHA:220386
HP:0100886	Abnormality of globe location	10735	STAG2	ORPHA:93925
HP:0100886	Abnormality of globe location	5396	PRRX1	ORPHA:990
HP:0100886	Abnormality of globe location	5015	OTX2	ORPHA:990
HP:0100886	Abnormality of globe location	23007	PLCH1	OMIM:619895
HP:0100886	Abnormality of globe location	23007	PLCH1	ORPHA:93925
HP:0100886	Abnormality of globe location	8243	SMC1A	ORPHA:220386
HP:0100886	Abnormality of globe location	6491	STIL	ORPHA:220386
HP:0100886	Abnormality of globe location	6491	STIL	ORPHA:93926
HP:0100886	Abnormality of globe location	6491	STIL	ORPHA:93924
HP:0100886	Abnormality of globe location	6491	STIL	ORPHA:93925
HP:0100886	Abnormality of globe location	23314	SATB2	ORPHA:576283
HP:0100886	Abnormality of globe location	23729	SHPK	ORPHA:440713
HP:0100887	Abnormality of globe size	64840	PORCN	OMIM:305600
HP:0100887	Abnormality of globe size	341640	FREM2	ORPHA:2052
HP:0100887	Abnormality of globe size	80144	FRAS1	ORPHA:2052
HP:0100887	Abnormality of globe size	80144	FRAS1	OMIM:219000
HP:0100887	Abnormality of globe size	23426	GRIP1	ORPHA:2052
HP:0100887	Abnormality of globe size	23347	SMCHD1	ORPHA:2250
HP:0100887	Abnormality of globe size	8260	NAA10	OMIM:309800
HP:0100887	Abnormality of globe size	54880	BCOR	OMIM:309800
HP:0100887	Abnormality of globe size	54880	BCOR	OMIM:300166
HP:0100887	Abnormality of globe size	220	ALDH1A3	OMIM:615113
HP:0100887	Abnormality of globe size	79848	CSPP1	OMIM:615636
HP:0100887	Abnormality of globe size	79848	CSPP1	ORPHA:564
HP:0100887	Abnormality of globe size	30062	RAX	OMIM:611038
HP:0100887	Abnormality of globe size	85440	DOCK7	ORPHA:411986
HP:0100887	Abnormality of globe size	10586	MAB21L2	OMIM:615877
HP:0100887	Abnormality of globe size	10992	SF3B2	OMIM:164210
HP:0100887	Abnormality of globe size	64220	STRA6	OMIM:601186
HP:0100887	Abnormality of globe size	64220	STRA6	ORPHA:2470
HP:0100887	Abnormality of globe size	6469	SHH	OMIM:611638
HP:0100887	Abnormality of globe size	6469	SHH	OMIM:147250
HP:0100887	Abnormality of globe size	1161	ERCC8	ORPHA:90321
HP:0100887	Abnormality of globe size	1161	ERCC8	ORPHA:90322
HP:0100887	Abnormality of globe size	2072	ERCC4	ORPHA:90321
HP:0100887	Abnormality of globe size	2074	ERCC6	ORPHA:90321
HP:0100887	Abnormality of globe size	2074	ERCC6	ORPHA:90322
HP:0100887	Abnormality of globe size	2067	ERCC1	ORPHA:90322
HP:0100887	Abnormality of globe size	2736	GLI2	OMIM:610829
HP:0100887	Abnormality of globe size	158326	FREM1	OMIM:248450
HP:0100887	Abnormality of globe size	158326	FREM1	ORPHA:2717
HP:0100887	Abnormality of globe size	3832	KIF11	ORPHA:2526
HP:0100887	Abnormality of globe size	5915	RARB	OMIM:615524
HP:0100887	Abnormality of globe size	5915	RARB	ORPHA:2470
HP:0100887	Abnormality of globe size	64093	SMOC1	OMIM:206920
HP:0100887	Abnormality of globe size	9723	SEMA3E	ORPHA:138
HP:0100887	Abnormality of globe size	2187	FANCB	ORPHA:3412
HP:0100887	Abnormality of globe size	84892	POMGNT2	ORPHA:899
HP:0100887	Abnormality of globe size	148789	B3GALNT2	ORPHA:899
HP:0100887	Abnormality of globe size	79147	FKRP	ORPHA:899
HP:0100887	Abnormality of globe size	29954	POMT2	ORPHA:899
HP:0100887	Abnormality of globe size	9215	LARGE1	ORPHA:899
HP:0100887	Abnormality of globe size	1282	COL4A1	ORPHA:899
HP:0100887	Abnormality of globe size	729920	CRPPA	ORPHA:899
HP:0100887	Abnormality of globe size	10329	RXYLT1	ORPHA:899
HP:0100887	Abnormality of globe size	1605	DAG1	ORPHA:899
HP:0100887	Abnormality of globe size	11041	B4GAT1	ORPHA:899
HP:0100887	Abnormality of globe size	10585	POMT1	ORPHA:899
HP:0100887	Abnormality of globe size	84197	POMK	ORPHA:899
HP:0100887	Abnormality of globe size	2218	FKTN	ORPHA:899
HP:0100887	Abnormality of globe size	55624	POMGNT1	ORPHA:899
HP:0100887	Abnormality of globe size	6657	SOX2	ORPHA:77298
HP:0100887	Abnormality of globe size	6657	SOX2	OMIM:206900
HP:0100887	Abnormality of globe size	652	BMP4	ORPHA:139471
HP:0100887	Abnormality of globe size	652	BMP4	OMIM:607932
HP:0100887	Abnormality of globe size	81788	NUAK2	OMIM:619452
HP:0100887	Abnormality of globe size	5950	RBP4	OMIM:616428
HP:0100887	Abnormality of globe size	5015	OTX2	OMIM:610125
HP:0100887	Abnormality of globe size	54539	NDUFB11	ORPHA:2556
HP:0100887	Abnormality of globe size	1349	COX7B	ORPHA:2556
HP:0100887	Abnormality of globe size	3052	HCCS	ORPHA:2556
HP:0100887	Abnormality of globe size	7020	TFAP2A	OMIM:113620
HP:0100887	Abnormality of globe size	84314	TMEM107	ORPHA:564
HP:0100887	Abnormality of globe size	26123	TCTN3	ORPHA:564
HP:0100887	Abnormality of globe size	79867	TCTN2	ORPHA:564
HP:0100887	Abnormality of globe size	79867	TCTN2	OMIM:613885
HP:0100887	Abnormality of globe size	80776	B9D2	ORPHA:564
HP:0100887	Abnormality of globe size	79600	TCTN1	ORPHA:564
HP:0100887	Abnormality of globe size	57096	RPGRIP1	ORPHA:564
HP:0100887	Abnormality of globe size	80184	CEP290	ORPHA:564
HP:0100887	Abnormality of globe size	51259	TMEM216	ORPHA:564
HP:0100887	Abnormality of globe size	57545	CC2D2A	ORPHA:564
HP:0100887	Abnormality of globe size	79583	TMEM231	ORPHA:564
HP:0100887	Abnormality of globe size	91147	TMEM67	ORPHA:564
HP:0100887	Abnormality of globe size	79770	TXNDC15	ORPHA:564
HP:0100887	Abnormality of globe size	27077	B9D1	ORPHA:564
HP:0100887	Abnormality of globe size	23322	RPGRIP1L	ORPHA:564
HP:0100887	Abnormality of globe size	54903	MKS1	ORPHA:564
HP:0100887	Abnormality of globe size	65062	TMEM237	ORPHA:564
HP:0100887	Abnormality of globe size	219844	HYLS1	ORPHA:2189
HP:0100887	Abnormality of globe size	374654	KIF7	ORPHA:2189
HP:0100887	Abnormality of globe size	4990	SIX6	OMIM:206900
HP:0100887	Abnormality of globe size	2776	GNAQ	OMIM:185300
HP:0100887	Abnormality of globe size	285590	SH3PXD2B	OMIM:249420
HP:0100887	Abnormality of globe size	2530	FUT8	OMIM:618005
HP:0100887	Abnormality of globe size	54892	NCAPG2	OMIM:618460
HP:0100887	Abnormality of globe size	92949	ADAMTSL1	ORPHA:521445
HP:0100887	Abnormality of globe size	1545	CYP1B1	OMIM:231300
HP:0100887	Abnormality of globe size	169792	GLIS3	OMIM:610199
HP:0100887	Abnormality of globe size	7291	TWIST1	OMIM:101400
HP:0100887	Abnormality of globe size	2263	FGFR2	OMIM:101400
HP:0100887	Abnormality of globe size	4081	MAB21L1	OMIM:618479
HP:0100887	Abnormality of globe size	81846	SBF2	ORPHA:99956
HP:0100887	Abnormality of globe size	4053	LTBP2	OMIM:251750
HP:0100887	Abnormality of globe size	5728	PTEN	ORPHA:744
HP:0100887	Abnormality of globe size	207	AKT1	ORPHA:744
HP:0100887	Abnormality of globe size	10682	EBP	ORPHA:401973
HP:0100887	Abnormality of globe size	10682	EBP	ORPHA:35173
HP:0100887	Abnormality of globe size	10682	EBP	OMIM:302960
HP:0100887	Abnormality of globe size	1409	CRYAA	OMIM:604219
HP:0100887	Abnormality of globe size	3265	HRAS	ORPHA:2612
HP:0100887	Abnormality of globe size	3845	KRAS	ORPHA:2612
HP:0100887	Abnormality of globe size	4893	NRAS	ORPHA:2612
HP:0100887	Abnormality of globe size	83700	JAM3	OMIM:613730
HP:0100887	Abnormality of globe size	23556	PIGN	ORPHA:2059
HP:0100887	Abnormality of globe size	81857	MED25	OMIM:616449
HP:0100887	Abnormality of globe size	81857	MED25	ORPHA:464738
HP:0100887	Abnormality of globe size	84942	WDR73	OMIM:251300
HP:0100887	Abnormality of globe size	4693	NDP	OMIM:310600
HP:0100887	Abnormality of globe size	4693	NDP	ORPHA:91495
HP:0100887	Abnormality of globe size	4693	NDP	ORPHA:891
HP:0100887	Abnormality of globe size	4693	NDP	ORPHA:649
HP:0100887	Abnormality of globe size	4693	NDP	OMIM:305390
HP:0100887	Abnormality of globe size	9839	ZEB2	OMIM:235730
HP:0100887	Abnormality of globe size	9839	ZEB2	ORPHA:261552
HP:0100887	Abnormality of globe size	9839	ZEB2	ORPHA:261537
HP:0100887	Abnormality of globe size	55209	SETD5	ORPHA:404440
HP:0100887	Abnormality of globe size	9401	RECQL4	OMIM:268400
HP:0100887	Abnormality of globe size	146167	SLC38A8	OMIM:609218
HP:0100887	Abnormality of globe size	5932	RBBP8	OMIM:606744
HP:0100887	Abnormality of globe size	2073	ERCC5	OMIM:616570
HP:0100887	Abnormality of globe size	2073	ERCC5	OMIM:278780
HP:0100887	Abnormality of globe size	2073	ERCC5	ORPHA:1466
HP:0100887	Abnormality of globe size	2175	FANCA	OMIM:227650
HP:0100887	Abnormality of globe size	2175	FANCA	ORPHA:84
HP:0100887	Abnormality of globe size	27229	TUBGCP4	OMIM:616335
HP:0100887	Abnormality of globe size	25914	RTTN	OMIM:614833
HP:0100887	Abnormality of globe size	3149	HMGB3	OMIM:300915
HP:0100887	Abnormality of globe size	6595	SMARCA2	ORPHA:2728
HP:0100887	Abnormality of globe size	25782	RAB3GAP2	OMIM:212720
HP:0100887	Abnormality of globe size	25782	RAB3GAP2	OMIM:614225
HP:0100887	Abnormality of globe size	25782	RAB3GAP2	ORPHA:2510
HP:0100887	Abnormality of globe size	4286	MITF	OMIM:617306
HP:0100887	Abnormality of globe size	2188	FANCF	OMIM:603467
HP:0100887	Abnormality of globe size	2188	FANCF	ORPHA:84
HP:0100887	Abnormality of globe size	84987	COX14	OMIM:619053
HP:0100887	Abnormality of globe size	220202	ATOH7	OMIM:221900
HP:0100887	Abnormality of globe size	220202	ATOH7	ORPHA:91495
HP:0100887	Abnormality of globe size	23418	CRB1	ORPHA:35612
HP:0100887	Abnormality of globe size	7439	BEST1	ORPHA:35612
HP:0100887	Abnormality of globe size	7439	BEST1	OMIM:193220
HP:0100887	Abnormality of globe size	26022	TMEM98	ORPHA:35612
HP:0100887	Abnormality of globe size	26022	TMEM98	OMIM:615972
HP:0100887	Abnormality of globe size	646960	PRSS56	ORPHA:35612
HP:0100887	Abnormality of globe size	646960	PRSS56	OMIM:613517
HP:0100887	Abnormality of globe size	83552	MFRP	ORPHA:35612
HP:0100887	Abnormality of globe size	83552	MFRP	OMIM:609549
HP:0100887	Abnormality of globe size	83552	MFRP	OMIM:611040
HP:0100887	Abnormality of globe size	2301	FOXE3	ORPHA:83461
HP:0100887	Abnormality of globe size	2301	FOXE3	OMIM:610256
HP:0100887	Abnormality of globe size	672	BRCA1	ORPHA:84
HP:0100887	Abnormality of globe size	672	BRCA1	OMIM:617883
HP:0100887	Abnormality of globe size	10459	MAD2L2	ORPHA:84
HP:0100887	Abnormality of globe size	7516	XRCC2	ORPHA:84
HP:0100887	Abnormality of globe size	29089	UBE2T	ORPHA:84
HP:0100887	Abnormality of globe size	675	BRCA2	ORPHA:84
HP:0100887	Abnormality of globe size	55120	FANCL	ORPHA:84
HP:0100887	Abnormality of globe size	55120	FANCL	OMIM:614083
HP:0100887	Abnormality of globe size	2177	FANCD2	ORPHA:84
HP:0100887	Abnormality of globe size	2177	FANCD2	OMIM:227646
HP:0100887	Abnormality of globe size	2176	FANCC	ORPHA:84
HP:0100887	Abnormality of globe size	2176	FANCC	OMIM:227645
HP:0100887	Abnormality of globe size	2178	FANCE	ORPHA:84
HP:0100887	Abnormality of globe size	2178	FANCE	OMIM:600901
HP:0100887	Abnormality of globe size	2189	FANCG	ORPHA:84
HP:0100887	Abnormality of globe size	2189	FANCG	OMIM:614082
HP:0100887	Abnormality of globe size	5888	RAD51	ORPHA:84
HP:0100887	Abnormality of globe size	5888	RAD51	OMIM:617244
HP:0100887	Abnormality of globe size	5889	RAD51C	ORPHA:84
HP:0100887	Abnormality of globe size	55159	RFWD3	ORPHA:84
HP:0100887	Abnormality of globe size	83990	BRIP1	ORPHA:84
HP:0100887	Abnormality of globe size	83990	BRIP1	OMIM:609054
HP:0100887	Abnormality of globe size	57697	FANCM	ORPHA:84
HP:0100887	Abnormality of globe size	79728	PALB2	ORPHA:84
HP:0100887	Abnormality of globe size	84464	SLX4	ORPHA:84
HP:0100887	Abnormality of globe size	55215	FANCI	ORPHA:84
HP:0100887	Abnormality of globe size	55215	FANCI	OMIM:609053
HP:0100887	Abnormality of globe size	23116	TOGARAM1	OMIM:619185
HP:0100887	Abnormality of globe size	9896	FIG4	ORPHA:3472
HP:0100887	Abnormality of globe size	55697	VAC14	ORPHA:3472
HP:0100887	Abnormality of globe size	9184	BUB3	ORPHA:1052
HP:0100887	Abnormality of globe size	699	BUB1	ORPHA:1052
HP:0100887	Abnormality of globe size	9702	CEP57	ORPHA:1052
HP:0100887	Abnormality of globe size	9319	TRIP13	ORPHA:1052
HP:0100887	Abnormality of globe size	701	BUB1B	ORPHA:1052
HP:0100887	Abnormality of globe size	22884	WDR37	OMIM:618652
HP:0100887	Abnormality of globe size	55714	TENM3	OMIM:615145
HP:0100887	Abnormality of globe size	56992	KIF15	OMIM:619981
HP:0100887	Abnormality of globe size	57167	SALL4	ORPHA:959
HP:0100887	Abnormality of globe size	57167	SALL4	OMIM:607323
HP:0100887	Abnormality of globe size	64132	XYLT2	ORPHA:85194
HP:0100887	Abnormality of globe size	25942	SIN3A	OMIM:613406
HP:0100887	Abnormality of globe size	10716	TBR1	ORPHA:1617
HP:0100887	Abnormality of globe size	2697	GJA1	OMIM:164200
HP:0100887	Abnormality of globe size	2697	GJA1	OMIM:257850
HP:0100887	Abnormality of globe size	63901	FAM111A	OMIM:602361
HP:0100887	Abnormality of globe size	63901	FAM111A	OMIM:127000
HP:0100887	Abnormality of globe size	26227	PHGDH	OMIM:256520
HP:0100887	Abnormality of globe size	11081	KERA	OMIM:217300
HP:0100887	Abnormality of globe size	392255	GDF6	OMIM:613094
HP:0100887	Abnormality of globe size	6905	TBCE	OMIM:241410
HP:0100887	Abnormality of globe size	6608	SMO	OMIM:601707
HP:0100887	Abnormality of globe size	6608	SMO	ORPHA:1553
HP:0100887	Abnormality of globe size	56006	SMG9	OMIM:616920
HP:0100887	Abnormality of globe size	4519	MT-CYB	ORPHA:137675
HP:0100887	Abnormality of globe size	10013	HDAC6	ORPHA:163966
HP:0100887	Abnormality of globe size	10013	HDAC6	OMIM:300863
HP:0100887	Abnormality of globe size	4952	OCRL	OMIM:309000
HP:0100887	Abnormality of globe size	4952	OCRL	ORPHA:534
HP:0100887	Abnormality of globe size	157570	ESCO2	ORPHA:3103
HP:0100887	Abnormality of globe size	157570	ESCO2	OMIM:268300
HP:0100887	Abnormality of globe size	8085	KMT2D	OMIM:620186
HP:0100887	Abnormality of globe size	23137	SMC5	OMIM:620185
HP:0100887	Abnormality of globe size	8517	IKBKG	ORPHA:464
HP:0100887	Abnormality of globe size	8517	IKBKG	OMIM:308300
HP:0100887	Abnormality of globe size	5727	PTCH1	OMIM:610828
HP:0100887	Abnormality of globe size	5727	PTCH1	OMIM:109400
HP:0100887	Abnormality of globe size	5727	PTCH1	ORPHA:77301
HP:0100887	Abnormality of globe size	79718	TBL1XR1	OMIM:602342
HP:0100887	Abnormality of globe size	79718	TBL1XR1	ORPHA:487825
HP:0100887	Abnormality of globe size	4089	SMAD4	OMIM:139210
HP:0100887	Abnormality of globe size	5159	PDGFRB	OMIM:601812
HP:0100887	Abnormality of globe size	7837	PXDN	OMIM:269400
HP:0100887	Abnormality of globe size	63895	PIEZO2	OMIM:248700
HP:0100887	Abnormality of globe size	9968	MED12	OMIM:300895
HP:0100887	Abnormality of globe size	285203	EOGT	OMIM:615297
HP:0100887	Abnormality of globe size	285203	EOGT	ORPHA:974
HP:0100887	Abnormality of globe size	57479	PRR12	OMIM:619539
HP:0100887	Abnormality of globe size	9928	KIF14	OMIM:617914
HP:0100887	Abnormality of globe size	11023	VAX1	OMIM:614402
HP:0100887	Abnormality of globe size	93426	SYCE1	OMIM:616947
HP:0100887	Abnormality of globe size	3166	HMX1	OMIM:612109
HP:0100887	Abnormality of globe size	6513	SLC2A1	ORPHA:1942
HP:0100887	Abnormality of globe size	8831	SYNGAP1	ORPHA:1942
HP:0100887	Abnormality of globe size	1173	AP2M1	ORPHA:1942
HP:0100887	Abnormality of globe size	6323	SCN1A	ORPHA:1942
HP:0100887	Abnormality of globe size	340533	NEXMIF	ORPHA:1942
HP:0100887	Abnormality of globe size	1106	CHD2	ORPHA:1942
HP:0100887	Abnormality of globe size	6529	SLC6A1	ORPHA:1942
HP:0100887	Abnormality of globe size	2260	FGFR1	ORPHA:2117
HP:0100887	Abnormality of globe size	2260	FGFR1	OMIM:613001
HP:0100887	Abnormality of globe size	257	ALX3	OMIM:136760
HP:0100887	Abnormality of globe size	257	ALX3	ORPHA:391474
HP:0100887	Abnormality of globe size	404672	GTF2H5	OMIM:616395
HP:0100887	Abnormality of globe size	54101	RIPK4	OMIM:263650
HP:0100887	Abnormality of globe size	60529	ALX4	ORPHA:228390
HP:0100887	Abnormality of globe size	60529	ALX4	OMIM:613451
HP:0100887	Abnormality of globe size	26173	INTS1	OMIM:618571
HP:0100887	Abnormality of globe size	2303	FOXC2	OMIM:153400
HP:0100887	Abnormality of globe size	2702	GJA5	OMIM:612474
HP:0100887	Abnormality of globe size	2703	GJA8	OMIM:612474
HP:0100887	Abnormality of globe size	27152	INTU	OMIM:617925
HP:0100887	Abnormality of globe size	3720	JARID2	OMIM:620098
HP:0100887	Abnormality of globe size	2737	GLI3	ORPHA:672
HP:0100887	Abnormality of globe size	2737	GLI3	OMIM:146510
HP:0100887	Abnormality of globe size	22827	PUF60	ORPHA:508498
HP:0100887	Abnormality of globe size	160418	TMTC3	OMIM:617255
HP:0100887	Abnormality of globe size	8092	ALX1	OMIM:613456
HP:0100887	Abnormality of globe size	8092	ALX1	ORPHA:306542
HP:0100887	Abnormality of globe size	5309	PITX3	OMIM:610623
HP:0100887	Abnormality of globe size	8322	FZD4	ORPHA:91495
HP:0100887	Abnormality of globe size	8322	FZD4	ORPHA:891
HP:0100887	Abnormality of globe size	7473	WNT3	ORPHA:3301
HP:0100887	Abnormality of globe size	7473	WNT3	OMIM:273395
HP:0100887	Abnormality of globe size	340419	RSPO2	ORPHA:3301
HP:0100887	Abnormality of globe size	23384	SPECC1L	OMIM:600251
HP:0100887	Abnormality of globe size	170302	ARX	OMIM:308350
HP:0100887	Abnormality of globe size	10733	PLK4	OMIM:616171
HP:0100887	Abnormality of globe size	473	RERE	OMIM:616975
HP:0100887	Abnormality of globe size	473	RERE	ORPHA:494344
HP:0100887	Abnormality of globe size	1806	DPYD	OMIM:274270
HP:0100887	Abnormality of globe size	23291	FBXW11	OMIM:618914
HP:0100887	Abnormality of globe size	79644	SRD5A3	OMIM:612379
HP:0100887	Abnormality of globe size	10413	YAP1	ORPHA:1473
HP:0100887	Abnormality of globe size	10413	YAP1	OMIM:120433
HP:0100887	Abnormality of globe size	387700	SLC16A12	OMIM:612018
HP:0100887	Abnormality of globe size	10982	MAPRE2	OMIM:616734
HP:0100887	Abnormality of globe size	10982	MAPRE2	ORPHA:2505
HP:0100887	Abnormality of globe size	4041	LRP5	OMIM:259770
HP:0100887	Abnormality of globe size	4041	LRP5	ORPHA:2788
HP:0100887	Abnormality of globe size	4041	LRP5	ORPHA:891
HP:0100887	Abnormality of globe size	2068	ERCC2	OMIM:610756
HP:0100887	Abnormality of globe size	2068	ERCC2	ORPHA:1466
HP:0100887	Abnormality of globe size	2068	ERCC2	OMIM:601675
HP:0100887	Abnormality of globe size	2068	ERCC2	OMIM:278730
HP:0100887	Abnormality of globe size	4810	NHS	OMIM:302350
HP:0100887	Abnormality of globe size	4810	NHS	ORPHA:627
HP:0100887	Abnormality of globe size	22930	RAB3GAP1	OMIM:600118
HP:0100887	Abnormality of globe size	22930	RAB3GAP1	ORPHA:2510
HP:0100887	Abnormality of globe size	203068	TUBB	OMIM:615771
HP:0100887	Abnormality of globe size	203068	TUBB	OMIM:156610
HP:0100887	Abnormality of globe size	203068	TUBB	ORPHA:2505
HP:0100887	Abnormality of globe size	92255	LMBRD2	OMIM:619694
HP:0100887	Abnormality of globe size	5925	RB1	ORPHA:1587
HP:0100887	Abnormality of globe size	23511	NUP188	OMIM:618804
HP:0100887	Abnormality of globe size	26007	TKFC	OMIM:618805
HP:0100887	Abnormality of globe size	1147	CHUK	OMIM:619339
HP:0100887	Abnormality of globe size	2248	FGF3	ORPHA:2791
HP:0100887	Abnormality of globe size	1063	CENPF	OMIM:243605
HP:0100887	Abnormality of globe size	3913	LAMB2	OMIM:609049
HP:0100887	Abnormality of globe size	1312	COMT	ORPHA:567
HP:0100887	Abnormality of globe size	221037	JMJD1C	ORPHA:567
HP:0100887	Abnormality of globe size	2812	GP1BB	ORPHA:567
HP:0100887	Abnormality of globe size	6239	RREB1	ORPHA:567
HP:0100887	Abnormality of globe size	6899	TBX1	ORPHA:567
HP:0100887	Abnormality of globe size	7290	HIRA	ORPHA:567
HP:0100887	Abnormality of globe size	9632	SEC24C	ORPHA:567
HP:0100887	Abnormality of globe size	7353	UFD1	ORPHA:567
HP:0100887	Abnormality of globe size	421	ARVCF	ORPHA:567
HP:0100887	Abnormality of globe size	444	ASPH	OMIM:601552
HP:0100887	Abnormality of globe size	338917	VSX2	OMIM:610092
HP:0100887	Abnormality of globe size	338917	VSX2	OMIM:610093
HP:0100887	Abnormality of globe size	1822	ATN1	OMIM:618494
HP:0100887	Abnormality of globe size	5147	PDE6D	OMIM:615665
HP:0100887	Abnormality of globe size	128637	TBC1D20	OMIM:615663
HP:0100887	Abnormality of globe size	128637	TBC1D20	ORPHA:2510
HP:0100887	Abnormality of globe size	2071	ERCC3	OMIM:610651
HP:0100887	Abnormality of globe size	55644	OSGEP	OMIM:617729
HP:0100887	Abnormality of globe size	57572	DOCK6	OMIM:614219
HP:0100887	Abnormality of globe size	57572	DOCK6	ORPHA:974
HP:0100887	Abnormality of globe size	29980	DONSON	OMIM:251230
HP:0100887	Abnormality of globe size	60	ACTB	OMIM:243310
HP:0100887	Abnormality of globe size	668	FOXL2	OMIM:110100
HP:0100887	Abnormality of globe size	157680	VPS13B	ORPHA:193
HP:0100887	Abnormality of globe size	71	ACTG1	OMIM:614583
HP:0100887	Abnormality of globe size	9150	CTDP1	ORPHA:48431
HP:0100887	Abnormality of globe size	22931	RAB18	OMIM:614222
HP:0100887	Abnormality of globe size	22931	RAB18	ORPHA:2510
HP:0100887	Abnormality of globe size	29957	SLC25A24	OMIM:612289
HP:0100887	Abnormality of globe size	57514	ARHGAP31	OMIM:100300
HP:0100887	Abnormality of globe size	57514	ARHGAP31	ORPHA:974
HP:0100887	Abnormality of globe size	4329	ALDH6A1	OMIM:614105
HP:0100887	Abnormality of globe size	84172	POLR1B	ORPHA:861
HP:0100887	Abnormality of globe size	9533	POLR1C	ORPHA:861
HP:0100887	Abnormality of globe size	51082	POLR1D	ORPHA:861
HP:0100887	Abnormality of globe size	6949	TCOF1	ORPHA:861
HP:0100887	Abnormality of globe size	29925	GMPPB	ORPHA:370959
HP:0100887	Abnormality of globe size	136647	MPLKIP	OMIM:234050
HP:0100887	Abnormality of globe size	5290	PIK3CA	OMIM:602501
HP:0100887	Abnormality of globe size	374879	ZNF699	OMIM:619488
HP:0100887	Abnormality of globe size	5130	PCYT1A	ORPHA:85167
HP:0100887	Abnormality of globe size	6299	SALL1	ORPHA:857
HP:0100887	Abnormality of globe size	51339	DACT1	ORPHA:857
HP:0100887	Abnormality of globe size	9573	GDF3	OMIM:613704
HP:0100887	Abnormality of globe size	3516	RBPJ	ORPHA:974
HP:0100887	Abnormality of globe size	4851	NOTCH1	ORPHA:974
HP:0100887	Abnormality of globe size	54567	DLL4	ORPHA:974
HP:0100887	Abnormality of globe size	113246	C12orf57	OMIM:218340
HP:0100887	Abnormality of globe size	5264	PHYH	ORPHA:773
HP:0100887	Abnormality of globe size	5191	PEX7	ORPHA:773
HP:0100887	Abnormality of globe size	1499	CTNNB1	ORPHA:891
HP:0100887	Abnormality of globe size	23554	TSPAN12	ORPHA:891
HP:0100887	Abnormality of globe size	79797	ZNF408	ORPHA:891
HP:0100887	Abnormality of globe size	10084	PQBP1	OMIM:309500
HP:0100887	Abnormality of globe size	57020	VPS35L	OMIM:619135
HP:0100887	Abnormality of globe size	153241	CEP120	OMIM:616300
HP:0100887	Abnormality of globe size	51360	MBTPS2	ORPHA:85284
HP:0100887	Abnormality of globe size	387	RHOA	OMIM:618727
HP:0100887	Abnormality of globe size	5557	PRIM1	OMIM:620005
HP:0100887	Abnormality of globe size	6496	SIX3	OMIM:157170
HP:0100887	Abnormality of globe size	5076	PAX2	OMIM:120330
HP:0100887	Abnormality of globe size	6913	TBX15	OMIM:260660
HP:0100887	Abnormality of globe size	85378	TUBGCP6	OMIM:251270
HP:0100887	Abnormality of globe size	10058	ABCB6	OMIM:614497
HP:0100887	Abnormality of globe size	9469	CHST3	OMIM:245600
HP:0100887	Abnormality of globe size	26229	B3GAT3	OMIM:245600
HP:0100887	Abnormality of globe size	5296	PIK3R2	OMIM:603387
HP:0100887	Abnormality of globe size	1280	COL2A1	OMIM:200610
HP:0100887	Abnormality of globe size	3763	KCNJ6	ORPHA:435628
HP:0100887	Abnormality of globe size	3763	KCNJ6	OMIM:614098
HP:0100887	Abnormality of globe size	3758	KCNJ1	OMIM:241200
HP:0100887	Abnormality of globe size	22856	CHSY1	ORPHA:363417
HP:0100887	Abnormality of globe size	545	ATR	OMIM:210600
HP:0100887	Abnormality of globe size	8573	CASK	OMIM:300749
HP:0100887	Abnormality of globe size	91801	ALKBH8	OMIM:618504
HP:0100887	Abnormality of globe size	55650	PIGV	OMIM:239300
HP:0100887	Abnormality of globe size	833	CARS1	ORPHA:33364
HP:0100887	Abnormality of globe size	7737	RNF113A	ORPHA:33364
HP:0100887	Abnormality of globe size	6897	TARS1	ORPHA:33364
HP:0100887	Abnormality of globe size	2961	GTF2E2	ORPHA:33364
HP:0100887	Abnormality of globe size	23389	MED13L	ORPHA:369891
HP:0100887	Abnormality of globe size	29894	CPSF1	OMIM:618827
HP:0100887	Abnormality of globe size	80232	WDR26	ORPHA:513456
HP:0100887	Abnormality of globe size	2200	FBN1	OMIM:154700
HP:0100887	Abnormality of globe size	4043	LRPAP1	OMIM:615431
HP:0100887	Abnormality of globe size	55636	CHD7	OMIM:214800
HP:0100887	Abnormality of globe size	6650	CAPN15	OMIM:619318
HP:0100887	Abnormality of globe size	29887	SNX10	OMIM:615085
HP:0100887	Abnormality of globe size	5080	PAX6	ORPHA:137902
HP:0100887	Abnormality of globe size	114928	GPRASP2	OMIM:301018
HP:0100887	Abnormality of globe size	55154	MSTO1	ORPHA:502423
HP:0100889	Abnormality of the ductus choledochus	5297	PI4KA	ORPHA:436252
HP:0100889	Abnormality of the ductus choledochus	57217	TTC7A	ORPHA:436252
HP:0100889	Abnormality of the ductus choledochus	11198	SUPT16H	OMIM:619480
HP:0100889	Abnormality of the ductus choledochus	8239	USP9X	ORPHA:480880
HP:0100880	Nephrogenic rest	129563	DIS3L2	OMIM:267000
HP:0100880	Nephrogenic rest	168667	BMPER	OMIM:608022
HP:0011358	Generalized hypopigmentation of hair	25778	DSTYK	ORPHA:101003
HP:0011358	Generalized hypopigmentation of hair	5873	RAB27A	OMIM:607624
HP:0011358	Generalized hypopigmentation of hair	1130	LYST	OMIM:214500
HP:0011358	Generalized hypopigmentation of hair	79083	MLPH	OMIM:609227
HP:0011358	Generalized hypopigmentation of hair	388552	BLOC1S3	OMIM:614077
HP:0011358	Generalized hypopigmentation of hair	63915	BLOC1S5	OMIM:619172
HP:0011358	Generalized hypopigmentation of hair	5573	PRKAR1A	ORPHA:280651
HP:0011358	Generalized hypopigmentation of hair	5144	PDE4D	ORPHA:280651
HP:0011358	Generalized hypopigmentation of hair	5144	PDE4D	OMIM:614613
HP:0011358	Generalized hypopigmentation of hair	23556	PIGN	ORPHA:280633
HP:0011358	Generalized hypopigmentation of hair	197131	UBR1	OMIM:243800
HP:0011358	Generalized hypopigmentation of hair	284058	KANSL1	ORPHA:363965
HP:0011358	Generalized hypopigmentation of hair	284058	KANSL1	ORPHA:363958
HP:0011358	Generalized hypopigmentation of hair	284058	KANSL1	OMIM:610443
HP:0011358	Generalized hypopigmentation of hair	9742	IFT140	OMIM:266920
HP:0011358	Generalized hypopigmentation of hair	26503	SLC17A5	OMIM:269920
HP:0011358	Generalized hypopigmentation of hair	283652	SLC24A5	OMIM:113750
HP:0011358	Generalized hypopigmentation of hair	6023	RMRP	OMIM:250250
HP:0011358	Generalized hypopigmentation of hair	5053	PAH	OMIM:261600
HP:0011358	Generalized hypopigmentation of hair	10161	LPAR6	OMIM:278150
HP:0011358	Generalized hypopigmentation of hair	6901	TAFAZZIN	OMIM:302060
HP:0011358	Generalized hypopigmentation of hair	7841	MOGS	ORPHA:79330
HP:0011358	Generalized hypopigmentation of hair	8626	TP63	OMIM:103285
HP:0011358	Generalized hypopigmentation of hair	8626	TP63	OMIM:604292
HP:0011358	Generalized hypopigmentation of hair	6638	SNRPN	OMIM:105830
HP:0011358	Generalized hypopigmentation of hair	7337	UBE3A	OMIM:105830
HP:0011358	Generalized hypopigmentation of hair	8546	AP3B1	OMIM:608233
HP:0011358	Generalized hypopigmentation of hair	20	ABCA2	OMIM:618808
HP:0011358	Generalized hypopigmentation of hair	65057	ACD	ORPHA:3322
HP:0011358	Generalized hypopigmentation of hair	7306	TYRP1	ORPHA:79433
HP:0011358	Generalized hypopigmentation of hair	79158	GNPTAB	ORPHA:576
HP:0011358	Generalized hypopigmentation of hair	5077	PAX3	ORPHA:894
HP:0011358	Generalized hypopigmentation of hair	5077	PAX3	ORPHA:896
HP:0011358	Generalized hypopigmentation of hair	80169	CTC1	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	26277	TINF2	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	55651	NHP2	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	79650	USB1	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	55135	WRAP53	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	51750	RTEL1	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	4869	NPM1	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	7012	TERC	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	55505	NOP10	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	5073	PARN	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	7015	TERT	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	1736	DKC1	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	7298	TYMS	ORPHA:1775
HP:0011358	Generalized hypopigmentation of hair	4254	KITLG	OMIM:619947
HP:0011358	Generalized hypopigmentation of hair	51702	PADI3	ORPHA:1410
HP:0011358	Generalized hypopigmentation of hair	7053	TGM3	ORPHA:1410
HP:0011358	Generalized hypopigmentation of hair	7299	TYR	OMIM:203100
HP:0011358	Generalized hypopigmentation of hair	4157	MC1R	ORPHA:79432
HP:0011358	Generalized hypopigmentation of hair	4948	OCA2	ORPHA:79432
HP:0011358	Generalized hypopigmentation of hair	4644	MYO5A	ORPHA:79476
HP:0011358	Generalized hypopigmentation of hair	51151	SLC45A2	ORPHA:79435
HP:0011356	Regional abnormality of skin	324	APC	ORPHA:261584
HP:0011356	Regional abnormality of skin	340533	NEXMIF	OMIM:300912
HP:0011356	Regional abnormality of skin	8294	H4C9	OMIM:619951
HP:0011356	Regional abnormality of skin	83932	SPRTN	OMIM:616200
HP:0011356	Regional abnormality of skin	8425	LTBP4	OMIM:613177
HP:0011356	Regional abnormality of skin	51126	NAA20	OMIM:619717
HP:0011356	Regional abnormality of skin	2972	BRF1	OMIM:616202
HP:0011356	Regional abnormality of skin	2972	BRF1	ORPHA:444072
HP:0011356	Regional abnormality of skin	5885	RAD21	OMIM:614701
HP:0011356	Regional abnormality of skin	55627	SMPD4	OMIM:618622
HP:0011356	Regional abnormality of skin	81857	MED25	OMIM:616449
HP:0011356	Regional abnormality of skin	81857	MED25	ORPHA:464738
HP:0011356	Regional abnormality of skin	123263	MTFMT	OMIM:614947
HP:0011356	Regional abnormality of skin	10274	STAG1	ORPHA:502434
HP:0011356	Regional abnormality of skin	5830	PEX5	OMIM:214110
HP:0011356	Regional abnormality of skin	197131	UBR1	OMIM:243800
HP:0011356	Regional abnormality of skin	9578	CDC42BPB	OMIM:619841
HP:0011356	Regional abnormality of skin	3020	H3-3A	OMIM:619720
HP:0011356	Regional abnormality of skin	10300	KATNB1	OMIM:616212
HP:0011356	Regional abnormality of skin	89910	UBE3B	OMIM:244450
HP:0011356	Regional abnormality of skin	51506	UFC1	OMIM:618076
HP:0011356	Regional abnormality of skin	55790	CSGALNACT1	OMIM:618870
HP:0011356	Regional abnormality of skin	4010	LMX1B	ORPHA:495818
HP:0011356	Regional abnormality of skin	6812	STXBP1	ORPHA:495818
HP:0011356	Regional abnormality of skin	2137	EXTL3	OMIM:617425
HP:0011356	Regional abnormality of skin	22858	CILK1	OMIM:612651
HP:0011356	Regional abnormality of skin	9382	COG1	OMIM:611209
HP:0011356	Regional abnormality of skin	5189	PEX1	OMIM:214100
HP:0011356	Regional abnormality of skin	6197	RPS6KA3	OMIM:303600
HP:0011356	Regional abnormality of skin	84987	COX14	OMIM:619053
HP:0011356	Regional abnormality of skin	54453	RIN2	OMIM:613075
HP:0011356	Regional abnormality of skin	3899	AFF3	OMIM:619297
HP:0011356	Regional abnormality of skin	50814	NSDHL	OMIM:308050
HP:0011356	Regional abnormality of skin	92579	G6PC3	OMIM:612541
HP:0011356	Regional abnormality of skin	114034	TOE1	OMIM:614969
HP:0011356	Regional abnormality of skin	157680	VPS13B	OMIM:216550
HP:0011356	Regional abnormality of skin	7020	TFAP2A	OMIM:113620
HP:0011356	Regional abnormality of skin	9896	FIG4	ORPHA:3472
HP:0011356	Regional abnormality of skin	9896	FIG4	OMIM:216340
HP:0011356	Regional abnormality of skin	55697	VAC14	ORPHA:3472
HP:0011356	Regional abnormality of skin	652	BMP4	OMIM:607932
HP:0011356	Regional abnormality of skin	5442	POLRMT	OMIM:619743
HP:0011356	Regional abnormality of skin	132158	GLYCTK	OMIM:220120
HP:0011356	Regional abnormality of skin	55148	UBR7	OMIM:619189
HP:0011356	Regional abnormality of skin	4591	TRIM37	OMIM:253250
HP:0011356	Regional abnormality of skin	79813	EHMT1	OMIM:610253
HP:0011356	Regional abnormality of skin	55012	PPP2R3C	OMIM:618419
HP:0011356	Regional abnormality of skin	1954	MEGF8	OMIM:614976
HP:0011356	Regional abnormality of skin	2783	GNB2	OMIM:619503
HP:0011356	Regional abnormality of skin	53834	FGFRL1	OMIM:194190
HP:0011356	Regional abnormality of skin	1487	CTBP1	OMIM:194190
HP:0011356	Regional abnormality of skin	3954	LETM1	OMIM:194190
HP:0011356	Regional abnormality of skin	7468	NSD2	OMIM:194190
HP:0011356	Regional abnormality of skin	10815	CPLX1	OMIM:194190
HP:0011356	Regional abnormality of skin	26040	SETBP1	OMIM:269150
HP:0011356	Regional abnormality of skin	727857	BHLHA9	OMIM:609432
HP:0011356	Regional abnormality of skin	1802	DPH2	OMIM:620062
HP:0011356	Regional abnormality of skin	11285	B4GALT7	OMIM:130070
HP:0011356	Regional abnormality of skin	1186	CLCN7	OMIM:618541
HP:0011356	Regional abnormality of skin	55768	NGLY1	OMIM:615273
HP:0011356	Regional abnormality of skin	1349	COX7B	OMIM:309801
HP:0011356	Regional abnormality of skin	3052	HCCS	OMIM:309801
HP:0011356	Regional abnormality of skin	54539	NDUFB11	OMIM:309801
HP:0011356	Regional abnormality of skin	5190	PEX6	OMIM:614863
HP:0011356	Regional abnormality of skin	5828	PEX2	OMIM:614866
HP:0011356	Regional abnormality of skin	150468	CKAP2L	OMIM:272440
HP:0011356	Regional abnormality of skin	6134	RPL10	ORPHA:459070
HP:0011356	Regional abnormality of skin	6134	RPL10	OMIM:300998
HP:0011356	Regional abnormality of skin	6134	RPL10	ORPHA:435938
HP:0011356	Regional abnormality of skin	55165	CEP55	OMIM:236500
HP:0011356	Regional abnormality of skin	23137	SMC5	OMIM:620185
HP:0011356	Regional abnormality of skin	388015	RTL1	ORPHA:96334
HP:0011356	Regional abnormality of skin	388015	RTL1	ORPHA:254528
HP:0011356	Regional abnormality of skin	8788	DLK1	ORPHA:96334
HP:0011356	Regional abnormality of skin	8788	DLK1	ORPHA:254528
HP:0011356	Regional abnormality of skin	55384	MEG3	ORPHA:96334
HP:0011356	Regional abnormality of skin	55384	MEG3	ORPHA:254528
HP:0011356	Regional abnormality of skin	10430	TMEM147	OMIM:620075
HP:0011356	Regional abnormality of skin	23483	TGDS	OMIM:616145
HP:0011356	Regional abnormality of skin	6611	SMS	OMIM:309583
HP:0011356	Regional abnormality of skin	25836	NIPBL	OMIM:122470
HP:0011356	Regional abnormality of skin	23219	FBXO28	OMIM:619777
HP:0011356	Regional abnormality of skin	2316	FLNA	ORPHA:1826
HP:0011356	Regional abnormality of skin	6885	MAP3K7	ORPHA:1826
HP:0011356	Regional abnormality of skin	6595	SMARCA2	OMIM:601358
HP:0011356	Regional abnormality of skin	29123	ANKRD11	OMIM:148050
HP:0011356	Regional abnormality of skin	29123	ANKRD11	ORPHA:2332
HP:0011356	Regional abnormality of skin	4208	MEF2C	OMIM:613443
HP:0011356	Regional abnormality of skin	55690	PACS1	ORPHA:329224
HP:0011356	Regional abnormality of skin	6878	TAF6	OMIM:617126
HP:0011356	Regional abnormality of skin	2245	FGD1	ORPHA:915
HP:0011356	Regional abnormality of skin	2245	FGD1	OMIM:305400
HP:0011356	Regional abnormality of skin	81603	TRIM8	OMIM:619428
HP:0011356	Regional abnormality of skin	9230	RAB11B	OMIM:617807
HP:0011356	Regional abnormality of skin	55081	IFT57	OMIM:617927
HP:0011356	Regional abnormality of skin	3479	IGF1	ORPHA:73272
HP:0011356	Regional abnormality of skin	5193	PEX12	OMIM:266510
HP:0011356	Regional abnormality of skin	100151683	RNU4ATAC	OMIM:210710
HP:0011356	Regional abnormality of skin	100151683	RNU4ATAC	OMIM:616651
HP:0011356	Regional abnormality of skin	1798	DPAGT1	OMIM:608093
HP:0011356	Regional abnormality of skin	57122	NUP107	OMIM:618348
HP:0011356	Regional abnormality of skin	6418	SET	OMIM:618106
HP:0011356	Regional abnormality of skin	5515	PPP2CA	OMIM:618354
HP:0011356	Regional abnormality of skin	2623	GATA1	OMIM:190685
HP:0011356	Regional abnormality of skin	23030	KDM4B	OMIM:619320
HP:0011356	Regional abnormality of skin	2902	GRIN1	OMIM:617820
HP:0011356	Regional abnormality of skin	55784	MCTP2	ORPHA:1596
HP:0011356	Regional abnormality of skin	23097	CDK19	OMIM:618916
HP:0011356	Regional abnormality of skin	9126	SMC3	OMIM:610759
HP:0011356	Regional abnormality of skin	5530	PPP3CA	OMIM:617711
HP:0011356	Regional abnormality of skin	80746	TSEN2	OMIM:612389
HP:0011356	Regional abnormality of skin	64131	XYLT1	OMIM:615777
HP:0011356	Regional abnormality of skin	9361	LONP1	ORPHA:79243
HP:0011356	Regional abnormality of skin	5160	PDHA1	ORPHA:79243
HP:0011356	Regional abnormality of skin	55764	IFT122	OMIM:218330
HP:0011356	Regional abnormality of skin	8604	SLC25A12	OMIM:612949
HP:0011356	Regional abnormality of skin	9241	NOG	OMIM:186500
HP:0011356	Regional abnormality of skin	22827	PUF60	ORPHA:508488
HP:0011356	Regional abnormality of skin	10943	MSL3	OMIM:301032
HP:0011356	Regional abnormality of skin	3977	LIFR	OMIM:601559
HP:0011356	Regional abnormality of skin	545	ATR	OMIM:210600
HP:0011356	Regional abnormality of skin	57187	THOC2	ORPHA:457240
HP:0011356	Regional abnormality of skin	57572	DOCK6	OMIM:614219
HP:0011356	Regional abnormality of skin	94005	PIGS	OMIM:618143
HP:0011356	Regional abnormality of skin	145173	B3GLCT	OMIM:261540
HP:0011356	Regional abnormality of skin	6711	SPTBN1	OMIM:619475
HP:0011356	Regional abnormality of skin	6938	TCF12	OMIM:615314
HP:0011356	Regional abnormality of skin	92002	CCNQ	OMIM:300707
HP:0011356	Regional abnormality of skin	4329	ALDH6A1	OMIM:614105
HP:0011356	Regional abnormality of skin	1457	CSNK2A1	OMIM:617062
HP:0011356	Regional abnormality of skin	7204	TRIO	OMIM:617061
HP:0011356	Regional abnormality of skin	55617	TASP1	OMIM:618950
HP:0011356	Regional abnormality of skin	51305	KCNK9	OMIM:612292
HP:0011356	Regional abnormality of skin	83737	ITCH	OMIM:613385
HP:0011356	Regional abnormality of skin	112752	IFT43	OMIM:617866
HP:0011356	Regional abnormality of skin	9702	CEP57	OMIM:614114
HP:0011356	Regional abnormality of skin	9373	PLAA	ORPHA:521426
HP:0011356	Regional abnormality of skin	9373	PLAA	OMIM:617527
HP:0011356	Regional abnormality of skin	64093	SMOC1	OMIM:206920
HP:0011356	Regional abnormality of skin	7169	TPM2	OMIM:108120
HP:0011356	Regional abnormality of skin	403	ARL3	OMIM:618161
HP:0011356	Regional abnormality of skin	8200	GDF5	OMIM:201250
HP:0011356	Regional abnormality of skin	1748	DLX4	OMIM:616788
HP:0011356	Regional abnormality of skin	1663	DDX11	OMIM:613398
HP:0011356	Regional abnormality of skin	2733	GLE1	OMIM:611890
HP:0011356	Regional abnormality of skin	738	VPS51	OMIM:618606
HP:0011356	Regional abnormality of skin	51594	NBAS	OMIM:614800
HP:0011356	Regional abnormality of skin	23299	BICD2	OMIM:618291
HP:0011356	Regional abnormality of skin	58499	ZNF462	OMIM:618619
HP:0011356	Regional abnormality of skin	7051	TGM1	OMIM:242300
HP:0011356	Regional abnormality of skin	7051	TGM1	ORPHA:100976
HP:0011356	Regional abnormality of skin	3858	KRT10	OMIM:607602
HP:0011356	Regional abnormality of skin	3858	KRT10	OMIM:609165
HP:0011356	Regional abnormality of skin	121214	SDR9C7	OMIM:617574
HP:0011356	Regional abnormality of skin	1075	CTSC	OMIM:170650
HP:0011356	Regional abnormality of skin	1075	CTSC	OMIM:245000
HP:0011356	Regional abnormality of skin	1075	CTSC	ORPHA:678
HP:0011356	Regional abnormality of skin	8710	SERPINB7	OMIM:615598
HP:0011356	Regional abnormality of skin	121391	KRT74	OMIM:194300
HP:0011356	Regional abnormality of skin	7373	COL14A1	ORPHA:79501
HP:0011356	Regional abnormality of skin	79719	AAGAB	ORPHA:79501
HP:0011356	Regional abnormality of skin	10804	GJB6	ORPHA:189
HP:0011356	Regional abnormality of skin	10804	GJB6	OMIM:129500
HP:0011356	Regional abnormality of skin	5728	PTEN	OMIM:158350
HP:0011356	Regional abnormality of skin	57511	COG6	ORPHA:363523
HP:0011356	Regional abnormality of skin	57511	COG6	OMIM:615328
HP:0011356	Regional abnormality of skin	5159	PDGFRB	OMIM:601812
HP:0011356	Regional abnormality of skin	22861	NLRP1	OMIM:617388
HP:0011356	Regional abnormality of skin	64065	PERP	OMIM:619209
HP:0011356	Regional abnormality of skin	64065	PERP	OMIM:619208
HP:0011356	Regional abnormality of skin	55612	FERMT1	OMIM:173650
HP:0011356	Regional abnormality of skin	7015	TERT	OMIM:613989
HP:0011356	Regional abnormality of skin	3889	KRT83	OMIM:617756
HP:0011356	Regional abnormality of skin	7286	TUFT1	OMIM:607655
HP:0011356	Regional abnormality of skin	5290	PIK3CA	OMIM:615108
HP:0011356	Regional abnormality of skin	667	DST	OMIM:615425
HP:0011356	Regional abnormality of skin	9015	TAF1A	ORPHA:154
HP:0011356	Regional abnormality of skin	5663	PSEN1	ORPHA:154
HP:0011356	Regional abnormality of skin	6389	SDHA	ORPHA:154
HP:0011356	Regional abnormality of skin	7112	TMPO	ORPHA:154
HP:0011356	Regional abnormality of skin	9464	HAND2	ORPHA:154
HP:0011356	Regional abnormality of skin	4625	MYH7	ORPHA:154
HP:0011356	Regional abnormality of skin	88	ACTN2	ORPHA:154
HP:0011356	Regional abnormality of skin	10486	CAP2	ORPHA:154
HP:0011356	Regional abnormality of skin	7168	TPM1	ORPHA:154
HP:0011356	Regional abnormality of skin	7414	VCL	ORPHA:154
HP:0011356	Regional abnormality of skin	70	ACTC1	ORPHA:154
HP:0011356	Regional abnormality of skin	27063	ANKRD1	ORPHA:154
HP:0011356	Regional abnormality of skin	8048	CSRP3	ORPHA:154
HP:0011356	Regional abnormality of skin	1410	CRYAB	ORPHA:154
HP:0011356	Regional abnormality of skin	4000	LMNA	ORPHA:154
HP:0011356	Regional abnormality of skin	7139	TNNT2	ORPHA:154
HP:0011356	Regional abnormality of skin	1829	DSG2	ORPHA:154
HP:0011356	Regional abnormality of skin	3910	LAMA4	ORPHA:154
HP:0011356	Regional abnormality of skin	63976	PRDM16	ORPHA:154
HP:0011356	Regional abnormality of skin	7273	TTN	ORPHA:154
HP:0011356	Regional abnormality of skin	10587	TXNRD2	ORPHA:154
HP:0011356	Regional abnormality of skin	9531	BAG3	ORPHA:154
HP:0011356	Regional abnormality of skin	5350	PLN	ORPHA:154
HP:0011356	Regional abnormality of skin	91624	NEXN	ORPHA:154
HP:0011356	Regional abnormality of skin	79717	PPCS	ORPHA:154
HP:0011356	Regional abnormality of skin	5664	PSEN2	ORPHA:154
HP:0011356	Regional abnormality of skin	4624	MYH6	ORPHA:154
HP:0011356	Regional abnormality of skin	9529	BAG5	ORPHA:154
HP:0011356	Regional abnormality of skin	4607	MYBPC3	ORPHA:154
HP:0011356	Regional abnormality of skin	282996	RBM20	ORPHA:154
HP:0011356	Regional abnormality of skin	7137	TNNI3	ORPHA:154
HP:0011356	Regional abnormality of skin	11155	LDB3	ORPHA:154
HP:0011356	Regional abnormality of skin	2274	FHL2	ORPHA:154
HP:0011356	Regional abnormality of skin	6901	TAFAZZIN	ORPHA:154
HP:0011356	Regional abnormality of skin	22845	DOLK	ORPHA:154
HP:0011356	Regional abnormality of skin	1756	DMD	ORPHA:154
HP:0011356	Regional abnormality of skin	57798	GATAD1	ORPHA:154
HP:0011356	Regional abnormality of skin	7134	TNNC1	ORPHA:154
HP:0011356	Regional abnormality of skin	84665	MYPN	ORPHA:154
HP:0011356	Regional abnormality of skin	1674	DES	ORPHA:154
HP:0011356	Regional abnormality of skin	6444	SGCD	ORPHA:154
HP:0011356	Regional abnormality of skin	6331	SCN5A	ORPHA:154
HP:0011356	Regional abnormality of skin	2218	FKTN	ORPHA:154
HP:0011356	Regional abnormality of skin	8557	TCAP	ORPHA:154
HP:0011356	Regional abnormality of skin	79092	CARD14	OMIM:173200
HP:0011356	Regional abnormality of skin	79092	CARD14	ORPHA:2897
HP:0011356	Regional abnormality of skin	4312	MMP1	ORPHA:79408
HP:0011356	Regional abnormality of skin	162	AP1B1	OMIM:242150
HP:0011356	Regional abnormality of skin	4574	MT-TS1	ORPHA:2202
HP:0011356	Regional abnormality of skin	1824	DSC2	OMIM:610476
HP:0011356	Regional abnormality of skin	3849	KRT2	ORPHA:455
HP:0011356	Regional abnormality of skin	26154	ABCA12	OMIM:601277
HP:0011356	Regional abnormality of skin	26154	ABCA12	ORPHA:79394
HP:0011356	Regional abnormality of skin	6898	TAT	ORPHA:28378
HP:0011356	Regional abnormality of skin	10483	SEC23B	ORPHA:201
HP:0011356	Regional abnormality of skin	6390	SDHB	ORPHA:201
HP:0011356	Regional abnormality of skin	6392	SDHD	ORPHA:201
HP:0011356	Regional abnormality of skin	6391	SDHC	ORPHA:201
HP:0011356	Regional abnormality of skin	205717	USF3	ORPHA:201
HP:0011356	Regional abnormality of skin	100144748	KLLN	ORPHA:201
HP:0011356	Regional abnormality of skin	285848	PNPLA1	OMIM:615024
HP:0011356	Regional abnormality of skin	285848	PNPLA1	ORPHA:79394
HP:0011356	Regional abnormality of skin	23328	SASH1	OMIM:618373
HP:0011356	Regional abnormality of skin	1474	CST6	OMIM:618535
HP:0011356	Regional abnormality of skin	54795	TRPM4	ORPHA:316
HP:0011356	Regional abnormality of skin	348938	NIPAL4	OMIM:612281
HP:0011356	Regional abnormality of skin	348938	NIPAL4	ORPHA:79394
HP:0011356	Regional abnormality of skin	25959	KANK2	OMIM:616099
HP:0011356	Regional abnormality of skin	57192	MCOLN1	ORPHA:578
HP:0011356	Regional abnormality of skin	1493	CTLA4	ORPHA:3162
HP:0011356	Regional abnormality of skin	940	CD28	ORPHA:3162
HP:0011356	Regional abnormality of skin	7133	TNFRSF1B	ORPHA:3162
HP:0011356	Regional abnormality of skin	79977	GRHL2	OMIM:616029
HP:0011356	Regional abnormality of skin	23592	LEMD3	ORPHA:1306
HP:0011356	Regional abnormality of skin	79644	SRD5A3	ORPHA:324737
HP:0011356	Regional abnormality of skin	80169	CTC1	ORPHA:1775
HP:0011356	Regional abnormality of skin	26277	TINF2	ORPHA:1775
HP:0011356	Regional abnormality of skin	55135	WRAP53	ORPHA:1775
HP:0011356	Regional abnormality of skin	51750	RTEL1	ORPHA:1775
HP:0011356	Regional abnormality of skin	4869	NPM1	ORPHA:1775
HP:0011356	Regional abnormality of skin	7012	TERC	ORPHA:1775
HP:0011356	Regional abnormality of skin	5073	PARN	ORPHA:1775
HP:0011356	Regional abnormality of skin	7298	TYMS	OMIM:620040
HP:0011356	Regional abnormality of skin	55636	CHD7	OMIM:214800
HP:0011356	Regional abnormality of skin	64840	PORCN	ORPHA:2092
HP:0011356	Regional abnormality of skin	1144	CHRND	OMIM:253290
HP:0011356	Regional abnormality of skin	1134	CHRNA1	OMIM:253290
HP:0011356	Regional abnormality of skin	3655	ITGA6	ORPHA:79403
HP:0011356	Regional abnormality of skin	4313	MMP2	ORPHA:371428
HP:0011356	Regional abnormality of skin	4323	MMP14	ORPHA:371428
HP:0011356	Regional abnormality of skin	57538	ALPK3	OMIM:618052
HP:0011356	Regional abnormality of skin	3339	HSPG2	OMIM:224410
HP:0011356	Regional abnormality of skin	3339	HSPG2	ORPHA:1865
HP:0011356	Regional abnormality of skin	55640	FLVCR2	OMIM:225790
HP:0011356	Regional abnormality of skin	55651	NHP2	OMIM:224230
HP:0011356	Regional abnormality of skin	55505	NOP10	OMIM:224230
HP:0011356	Regional abnormality of skin	60681	FKBP10	OMIM:259450
HP:0011356	Regional abnormality of skin	60681	FKBP10	ORPHA:2771
HP:0011356	Regional abnormality of skin	1736	DKC1	OMIM:305000
HP:0011356	Regional abnormality of skin	5352	PLOD2	ORPHA:2771
HP:0011356	Regional abnormality of skin	5352	PLOD2	OMIM:609220
HP:0011356	Regional abnormality of skin	2068	ERCC2	ORPHA:910
HP:0011356	Regional abnormality of skin	7507	XPA	ORPHA:910
HP:0011356	Regional abnormality of skin	2071	ERCC3	ORPHA:910
HP:0011356	Regional abnormality of skin	7508	XPC	ORPHA:910
HP:0011356	Regional abnormality of skin	1643	DDB2	ORPHA:910
HP:0011356	Regional abnormality of skin	2072	ERCC4	ORPHA:910
HP:0011356	Regional abnormality of skin	2073	ERCC5	ORPHA:910
HP:0011356	Regional abnormality of skin	26227	PHGDH	OMIM:256520
HP:0011356	Regional abnormality of skin	10082	GPC6	OMIM:258315
HP:0011356	Regional abnormality of skin	1146	CHRNG	OMIM:265000
HP:0011356	Regional abnormality of skin	1146	CHRNG	ORPHA:2990
HP:0011356	Regional abnormality of skin	1947	EFNB1	OMIM:304110
HP:0011356	Regional abnormality of skin	1147	CHUK	OMIM:619339
HP:0011356	Regional abnormality of skin	57211	ADGRG6	OMIM:616503
HP:0011356	Regional abnormality of skin	3691	ITGB4	OMIM:226730
HP:0011356	Regional abnormality of skin	8367	H4C5	OMIM:619950
HP:0011356	Regional abnormality of skin	10664	CTCF	ORPHA:363611
HP:0011356	Regional abnormality of skin	8260	NAA10	OMIM:309800
HP:0011356	Regional abnormality of skin	54880	BCOR	OMIM:309800
HP:0011356	Regional abnormality of skin	9853	RUSC2	OMIM:617773
HP:0011356	Regional abnormality of skin	5063	PAK3	OMIM:300558
HP:0011356	Regional abnormality of skin	1387	CREBBP	OMIM:180849
HP:0011356	Regional abnormality of skin	2033	EP300	OMIM:180849
HP:0011356	Regional abnormality of skin	2033	EP300	OMIM:613684
HP:0011356	Regional abnormality of skin	23394	ADNP	OMIM:615873
HP:0011356	Regional abnormality of skin	6228	RPS23	OMIM:617412
HP:0011356	Regional abnormality of skin	55628	ZNF407	OMIM:619557
HP:0011356	Regional abnormality of skin	91461	PKDCC	OMIM:618821
HP:0011356	Regional abnormality of skin	11133	KPTN	OMIM:615637
HP:0011356	Regional abnormality of skin	79718	TBL1XR1	OMIM:602342
HP:0011356	Regional abnormality of skin	79718	TBL1XR1	ORPHA:487825
HP:0011356	Regional abnormality of skin	284058	KANSL1	ORPHA:363965
HP:0011356	Regional abnormality of skin	284058	KANSL1	ORPHA:363958
HP:0011356	Regional abnormality of skin	284058	KANSL1	OMIM:610443
HP:0011356	Regional abnormality of skin	116931	MED12L	OMIM:618872
HP:0011356	Regional abnormality of skin	27086	FOXP1	ORPHA:391372
HP:0011356	Regional abnormality of skin	3021	H3-3B	OMIM:619721
HP:0011356	Regional abnormality of skin	28952	CCDC22	OMIM:300963
HP:0011356	Regional abnormality of skin	7025	NR2F1	OMIM:615722
HP:0011356	Regional abnormality of skin	9968	MED12	OMIM:305450
HP:0011356	Regional abnormality of skin	6925	TCF4	OMIM:610954
HP:0011356	Regional abnormality of skin	23065	EMC1	ORPHA:480898
HP:0011356	Regional abnormality of skin	23065	EMC1	OMIM:616875
HP:0011356	Regional abnormality of skin	4131	MAP1B	OMIM:618918
HP:0011356	Regional abnormality of skin	4784	NFIX	OMIM:602535
HP:0011356	Regional abnormality of skin	57492	ARID1B	OMIM:135900
HP:0011356	Regional abnormality of skin	57479	PRR12	OMIM:619539
HP:0011356	Regional abnormality of skin	64359	NXN	OMIM:618529
HP:0011356	Regional abnormality of skin	2146	EZH2	OMIM:277590
HP:0011356	Regional abnormality of skin	51322	WAC	ORPHA:466950
HP:0011356	Regional abnormality of skin	1105	CHD1	OMIM:617682
HP:0011356	Regional abnormality of skin	1822	ATN1	OMIM:618494
HP:0011356	Regional abnormality of skin	7403	KDM6A	OMIM:300867
HP:0011356	Regional abnormality of skin	7403	KDM6A	OMIM:147920
HP:0011356	Regional abnormality of skin	23036	ZNF292	OMIM:619188
HP:0011356	Regional abnormality of skin	3188	HNRNPH2	OMIM:300986
HP:0011356	Regional abnormality of skin	2702	GJA5	OMIM:612474
HP:0011356	Regional abnormality of skin	2703	GJA8	OMIM:612474
HP:0011356	Regional abnormality of skin	22907	DHX30	OMIM:617804
HP:0011356	Regional abnormality of skin	10522	DEAF1	OMIM:615828
HP:0011356	Regional abnormality of skin	3720	JARID2	OMIM:620098
HP:0011356	Regional abnormality of skin	8085	KMT2D	OMIM:147920
HP:0011356	Regional abnormality of skin	6774	STAT3	ORPHA:2314
HP:0011356	Regional abnormality of skin	3909	LAMA3	ORPHA:79404
HP:0011356	Regional abnormality of skin	3918	LAMC2	ORPHA:79404
HP:0011356	Regional abnormality of skin	3914	LAMB3	ORPHA:79404
HP:0011356	Regional abnormality of skin	641	BLM	ORPHA:125
HP:0011356	Regional abnormality of skin	55630	SLC39A4	ORPHA:37
HP:0011356	Regional abnormality of skin	55630	SLC39A4	OMIM:201100
HP:0011356	Regional abnormality of skin	6868	ADAM17	OMIM:614328
HP:0011356	Regional abnormality of skin	54463	RETREG1	OMIM:201300
HP:0011356	Regional abnormality of skin	65125	WNK1	OMIM:201300
HP:0011356	Regional abnormality of skin	6335	SCN9A	OMIM:201300
HP:0011356	Regional abnormality of skin	547	KIF1A	OMIM:201300
HP:0011356	Regional abnormality of skin	1053	CEBPE	OMIM:260570
HP:0011356	Regional abnormality of skin	5587	PRKD1	OMIM:617364
HP:0011356	Regional abnormality of skin	9091	PIGQ	OMIM:618548
HP:0011356	Regional abnormality of skin	3764	KCNJ8	ORPHA:1517
HP:0011356	Regional abnormality of skin	10060	ABCC9	ORPHA:1517
HP:0011356	Regional abnormality of skin	2074	ERCC6	OMIM:214150
HP:0011356	Regional abnormality of skin	23556	PIGN	ORPHA:280633
HP:0011356	Regional abnormality of skin	162514	TRPV3	OMIM:616400
HP:0011356	Regional abnormality of skin	1832	DSP	ORPHA:65282
HP:0011356	Regional abnormality of skin	2697	GJA1	ORPHA:317
HP:0011356	Regional abnormality of skin	2707	GJB3	ORPHA:317
HP:0011356	Regional abnormality of skin	2707	GJB3	OMIM:133200
HP:0011356	Regional abnormality of skin	2531	KDSR	ORPHA:317
HP:0011356	Regional abnormality of skin	127534	GJB4	ORPHA:317
HP:0011356	Regional abnormality of skin	113189	CHST14	ORPHA:2953
HP:0011356	Regional abnormality of skin	29940	DSE	ORPHA:2953
HP:0011356	Regional abnormality of skin	26053	AUTS2	OMIM:615834
HP:0011356	Regional abnormality of skin	26053	AUTS2	ORPHA:352490
HP:0011356	Regional abnormality of skin	8985	PLOD3	OMIM:612394
HP:0011356	Regional abnormality of skin	55252	ASXL2	OMIM:617190
HP:0011356	Regional abnormality of skin	8036	SHOC2	OMIM:607721
HP:0011356	Regional abnormality of skin	65082	VPS33A	ORPHA:505248
HP:0011356	Regional abnormality of skin	3190	HNRNPK	OMIM:616580
HP:0011356	Regional abnormality of skin	4052	LTBP1	OMIM:619451
HP:0011356	Regional abnormality of skin	8558	CDK10	OMIM:617694
HP:0011356	Regional abnormality of skin	29957	SLC25A24	OMIM:612289
HP:0011356	Regional abnormality of skin	673	BRAF	OMIM:115150
HP:0011356	Regional abnormality of skin	673	BRAF	ORPHA:1340
HP:0011356	Regional abnormality of skin	673	BRAF	OMIM:613706
HP:0011356	Regional abnormality of skin	5604	MAP2K1	ORPHA:1340
HP:0011356	Regional abnormality of skin	5605	MAP2K2	ORPHA:1340
HP:0011356	Regional abnormality of skin	3845	KRAS	ORPHA:1340
HP:0011356	Regional abnormality of skin	83550	GPR101	ORPHA:963
HP:0011356	Regional abnormality of skin	9049	AIP	ORPHA:963
HP:0011356	Regional abnormality of skin	23384	SPECC1L	OMIM:600251
HP:0011356	Regional abnormality of skin	55593	OTUD5	OMIM:301056
HP:0011356	Regional abnormality of skin	283209	PGM2L1	OMIM:620191
HP:0011356	Regional abnormality of skin	171023	ASXL1	OMIM:605039
HP:0011356	Regional abnormality of skin	10651	MTX2	OMIM:619127
HP:0011356	Regional abnormality of skin	80816	ASXL3	OMIM:615485
HP:0011356	Regional abnormality of skin	1806	DPYD	ORPHA:1675
HP:0011356	Regional abnormality of skin	2475	MTOR	OMIM:616638
HP:0011356	Regional abnormality of skin	200734	SPRED2	OMIM:619745
HP:0011356	Regional abnormality of skin	526	ATP6V1B2	ORPHA:3473
HP:0011356	Regional abnormality of skin	3756	KCNH1	ORPHA:3473
HP:0011356	Regional abnormality of skin	3782	KCNN3	ORPHA:3473
HP:0011356	Regional abnormality of skin	3265	HRAS	OMIM:218040
HP:0011356	Regional abnormality of skin	8241	RBM10	OMIM:311900
HP:0011356	Regional abnormality of skin	207	AKT1	OMIM:176920
HP:0011356	Regional abnormality of skin	1080	CFTR	ORPHA:498359
HP:0011356	Regional abnormality of skin	1508	CTSB	OMIM:148370
HP:0011356	Regional abnormality of skin	284654	RSPO1	OMIM:610644
HP:0011356	Regional abnormality of skin	1041	CDSN	OMIM:270300
HP:0011356	Regional abnormality of skin	5317	PKP1	OMIM:604536
HP:0011356	Regional abnormality of skin	1294	COL7A1	ORPHA:79409
HP:0011356	Regional abnormality of skin	1294	COL7A1	ORPHA:79410
HP:0011356	Regional abnormality of skin	5339	PLEC	ORPHA:79401
HP:0011356	Regional abnormality of skin	1828	DSG1	OMIM:148700
HP:0011356	Regional abnormality of skin	362	AQP5	OMIM:600231
HP:0011356	Regional abnormality of skin	362	AQP5	ORPHA:2337
HP:0011356	Regional abnormality of skin	3728	JUP	OMIM:601214
HP:0011356	Regional abnormality of skin	57152	SLURP1	ORPHA:86923
HP:0011356	Regional abnormality of skin	145264	SERPINA12	ORPHA:86923
HP:0011356	Regional abnormality of skin	54800	KLHL24	OMIM:617294
HP:0011356	Regional abnormality of skin	9342	SNAP29	ORPHA:66631
HP:0011356	Regional abnormality of skin	79651	RHBDF2	OMIM:148500
HP:0011356	Regional abnormality of skin	1308	COL17A1	ORPHA:79406
HP:0011356	Regional abnormality of skin	8626	TP63	OMIM:103285
HP:0011356	Regional abnormality of skin	4014	LORICRIN	OMIM:604117
HP:0011356	Regional abnormality of skin	4014	LORICRIN	ORPHA:79395
HP:0011356	Regional abnormality of skin	2706	GJB2	OMIM:124500
HP:0011356	Regional abnormality of skin	2706	GJB2	ORPHA:494
HP:0011356	Regional abnormality of skin	51371	POMP	OMIM:601952
HP:0011356	Regional abnormality of skin	27238	GPKOW	ORPHA:2570
HP:0011356	Regional abnormality of skin	6804	STX1A	ORPHA:904
HP:0011356	Regional abnormality of skin	7461	CLIP2	ORPHA:904
HP:0011356	Regional abnormality of skin	84277	DNAJC30	ORPHA:904
HP:0011356	Regional abnormality of skin	8468	FKBP6	ORPHA:904
HP:0011356	Regional abnormality of skin	5982	RFC2	ORPHA:904
HP:0011356	Regional abnormality of skin	2969	GTF2I	ORPHA:904
HP:0011356	Regional abnormality of skin	3984	LIMK1	ORPHA:904
HP:0011356	Regional abnormality of skin	9569	GTF2IRD1	ORPHA:904
HP:0011356	Regional abnormality of skin	155382	VPS37D	ORPHA:904
HP:0011356	Regional abnormality of skin	155368	METTL27	ORPHA:904
HP:0011356	Regional abnormality of skin	114049	BUD23	ORPHA:904
HP:0011356	Regional abnormality of skin	7458	EIF4H	ORPHA:904
HP:0011356	Regional abnormality of skin	84163	GTF2IRD2	ORPHA:904
HP:0011356	Regional abnormality of skin	9275	BCL7B	ORPHA:904
HP:0011356	Regional abnormality of skin	26608	TBL2	ORPHA:904
HP:0011356	Regional abnormality of skin	653361	NCF1	ORPHA:904
HP:0011356	Regional abnormality of skin	135886	TMEM270	ORPHA:904
HP:0011356	Regional abnormality of skin	51085	MLXIPL	ORPHA:904
HP:0011356	Regional abnormality of skin	9031	BAZ1B	ORPHA:904
HP:0011356	Regional abnormality of skin	2006	ELN	ORPHA:904
HP:0011356	Regional abnormality of skin	90416	CCDC32	OMIM:619123
HP:0011356	Regional abnormality of skin	1717	DHCR7	ORPHA:818
HP:0011356	Regional abnormality of skin	5818	NECTIN1	ORPHA:3253
HP:0011356	Regional abnormality of skin	4038	LRP4	ORPHA:3258
HP:0011356	Regional abnormality of skin	5925	RB1	ORPHA:1587
HP:0011356	Regional abnormality of skin	22930	RAB3GAP1	ORPHA:1387
HP:0011356	Regional abnormality of skin	25782	RAB3GAP2	ORPHA:1387
HP:0011356	Regional abnormality of skin	55681	SCYL2	ORPHA:1143
HP:0011356	Regional abnormality of skin	84570	COL25A1	ORPHA:1143
HP:0011356	Regional abnormality of skin	57222	ERGIC1	ORPHA:1143
HP:0011356	Regional abnormality of skin	22800	RRAS2	ORPHA:648
HP:0011356	Regional abnormality of skin	867	CBL	ORPHA:648
HP:0011356	Regional abnormality of skin	6237	RRAS	ORPHA:648
HP:0011356	Regional abnormality of skin	5894	RAF1	ORPHA:648
HP:0011356	Regional abnormality of skin	4893	NRAS	ORPHA:648
HP:0011356	Regional abnormality of skin	6654	SOS1	ORPHA:648
HP:0011356	Regional abnormality of skin	6655	SOS2	ORPHA:648
HP:0011356	Regional abnormality of skin	5781	PTPN11	ORPHA:648
HP:0011356	Regional abnormality of skin	5922	RASA2	ORPHA:648
HP:0011356	Regional abnormality of skin	2138	EYA1	ORPHA:2792
HP:0011356	Regional abnormality of skin	5075	PAX1	ORPHA:2792
HP:0011356	Regional abnormality of skin	3209	HOXA13	ORPHA:2438
HP:0011356	Regional abnormality of skin	1723	DHODH	ORPHA:246
HP:0011356	Regional abnormality of skin	9487	PIGL	ORPHA:3474
HP:0011356	Regional abnormality of skin	57167	SALL4	ORPHA:2307
HP:0011356	Regional abnormality of skin	715	C1R	OMIM:130080
HP:0011356	Regional abnormality of skin	2261	FGFR3	OMIM:616482
HP:0011356	Regional abnormality of skin	22808	MRAS	OMIM:618499
HP:0011356	Regional abnormality of skin	5351	PLOD1	OMIM:225400
HP:0011356	Regional abnormality of skin	8216	LZTR1	OMIM:616564
HP:0011356	Regional abnormality of skin	8216	LZTR1	OMIM:605275
HP:0011356	Regional abnormality of skin	84627	ZNF469	OMIM:229200
HP:0011356	Regional abnormality of skin	6016	RIT1	OMIM:615355
HP:0011356	Regional abnormality of skin	2263	FGFR2	OMIM:123790
HP:0011356	Regional abnormality of skin	23545	ATP6V0A2	OMIM:278250
HP:0011356	Regional abnormality of skin	5167	ENPP1	OMIM:615522
HP:0011356	Regional abnormality of skin	26276	VPS33B	OMIM:620009
HP:0011356	Regional abnormality of skin	9401	RECQL4	ORPHA:221016
HP:0011356	Regional abnormality of skin	286887	KRT6C	OMIM:615735
HP:0011356	Regional abnormality of skin	29926	GMPPA	ORPHA:869
HP:0011356	Regional abnormality of skin	60684	TRAPPC11	ORPHA:869
HP:0011356	Regional abnormality of skin	8086	AAAS	ORPHA:869
HP:0011356	Regional abnormality of skin	79650	USB1	OMIM:604173
HP:0011356	Regional abnormality of skin	64682	ANAPC1	ORPHA:221008
HP:0011356	Regional abnormality of skin	7291	TWIST1	ORPHA:794
HP:0011356	Regional abnormality of skin	23476	BRD4	ORPHA:199
HP:0011356	Regional abnormality of skin	8243	SMC1A	ORPHA:199
HP:0011356	Regional abnormality of skin	55869	HDAC8	ORPHA:199
HP:0011356	Regional abnormality of skin	5792	PTPRF	OMIM:616001
HP:0011356	Regional abnormality of skin	10908	PNPLA6	ORPHA:2377
HP:0011356	Regional abnormality of skin	9894	TELO2	ORPHA:488642
HP:0011356	Regional abnormality of skin	9759	HDAC4	ORPHA:1001
HP:0011356	Regional abnormality of skin	157570	ESCO2	ORPHA:3103
HP:0011356	Regional abnormality of skin	5184	PEPD	ORPHA:742
HP:0011356	Regional abnormality of skin	2131	EXT1	ORPHA:502
HP:0011356	Regional abnormality of skin	7227	TRPS1	ORPHA:502
HP:0011356	Regional abnormality of skin	283989	TSEN54	ORPHA:2524
HP:0011356	Regional abnormality of skin	116461	TSEN15	ORPHA:2524
HP:0011356	Regional abnormality of skin	79042	TSEN34	ORPHA:2524
HP:0011356	Regional abnormality of skin	51091	SEPSECS	ORPHA:2524
HP:0011356	Regional abnormality of skin	129563	DIS3L2	ORPHA:2849
HP:0011356	Regional abnormality of skin	55670	PEX26	ORPHA:44
HP:0011356	Regional abnormality of skin	5824	PEX19	ORPHA:44
HP:0011356	Regional abnormality of skin	8504	PEX3	ORPHA:44
HP:0011356	Regional abnormality of skin	9409	PEX16	ORPHA:44
HP:0011356	Regional abnormality of skin	8799	PEX11B	ORPHA:44
HP:0011356	Regional abnormality of skin	5194	PEX13	ORPHA:44
HP:0011356	Regional abnormality of skin	5195	PEX14	ORPHA:44
HP:0011356	Regional abnormality of skin	5192	PEX10	ORPHA:44
HP:0011356	Regional abnormality of skin	9469	CHST3	OMIM:143095
HP:0011356	Regional abnormality of skin	7140	TNNT3	ORPHA:1147
HP:0011356	Regional abnormality of skin	7136	TNNI2	ORPHA:1147
HP:0011356	Regional abnormality of skin	23511	NUP188	OMIM:618804
HP:0011356	Regional abnormality of skin	658	BMPR1B	ORPHA:2639
HP:0011356	Regional abnormality of skin	4087	SMAD2	OMIM:619657
HP:0011356	Regional abnormality of skin	4920	ROR2	ORPHA:1507
HP:0011356	Regional abnormality of skin	10225	CD96	ORPHA:1308
HP:0011356	Regional abnormality of skin	23522	KAT6B	ORPHA:3047
HP:0011356	Regional abnormality of skin	147372	CCBE1	OMIM:235510
HP:0011356	Regional abnormality of skin	9496	TBX4	ORPHA:261279
HP:0011356	Regional abnormality of skin	1801	DPH1	ORPHA:459061
HP:0011356	Regional abnormality of skin	2254	FGF9	ORPHA:3237
HP:0011356	Regional abnormality of skin	9333	TGM5	ORPHA:263534
HP:0011356	Regional abnormality of skin	1475	CSTA	ORPHA:263534
HP:0011356	Regional abnormality of skin	5307	PITX1	OMIM:119800
HP:0011356	Regional abnormality of skin	3664	IRF6	OMIM:119500
HP:0011356	Regional abnormality of skin	10265	IRX5	OMIM:611174
HP:0011356	Regional abnormality of skin	3481	IGF2	OMIM:616489
HP:0011356	Regional abnormality of skin	9928	KIF14	OMIM:616258
HP:0011356	Regional abnormality of skin	4927	NUP88	ORPHA:994
HP:0011356	Regional abnormality of skin	7846	TUBA1A	ORPHA:994
HP:0011356	Regional abnormality of skin	4654	MYOD1	ORPHA:994
HP:0011356	Regional abnormality of skin	4593	MUSK	ORPHA:994
HP:0011356	Regional abnormality of skin	5913	RAPSN	ORPHA:994
HP:0011356	Regional abnormality of skin	6572	SLC18A3	ORPHA:994
HP:0011356	Regional abnormality of skin	285489	DOK7	ORPHA:994
HP:0011356	Regional abnormality of skin	91252	SLC39A13	ORPHA:157965
HP:0011356	Regional abnormality of skin	63895	PIEZO2	ORPHA:1154
HP:0011356	Regional abnormality of skin	4621	MYH3	ORPHA:2053
HP:0011356	Regional abnormality of skin	259232	NALCN	ORPHA:2053
HP:0011356	Regional abnormality of skin	54101	RIPK4	OMIM:263650
HP:0011356	Regional abnormality of skin	92949	ADAMTSL1	ORPHA:521445
HP:0011356	Regional abnormality of skin	22884	WDR37	OMIM:618652
HP:0011356	Regional abnormality of skin	7750	ZMYM2	OMIM:619522
HP:0011356	Regional abnormality of skin	6578	SLCO2A1	OMIM:167100
HP:0011356	Regional abnormality of skin	6578	SLCO2A1	ORPHA:2796
HP:0011356	Regional abnormality of skin	54820	NDE1	OMIM:605013
HP:0011356	Regional abnormality of skin	3248	HPGD	ORPHA:2796
HP:0011356	Regional abnormality of skin	5727	PTCH1	ORPHA:77301
HP:0011356	Regional abnormality of skin	5727	PTCH1	ORPHA:377
HP:0011356	Regional abnormality of skin	5727	PTCH1	OMIM:109400
HP:0011356	Regional abnormality of skin	8643	PTCH2	ORPHA:377
HP:0011356	Regional abnormality of skin	51684	SUFU	ORPHA:377
HP:0011356	Regional abnormality of skin	10519	CIB1	OMIM:618267
HP:0011356	Regional abnormality of skin	56983	POGLUT1	ORPHA:79145
HP:0011356	Regional abnormality of skin	23509	POFUT1	ORPHA:79145
HP:0011356	Regional abnormality of skin	55851	PSENEN	ORPHA:79145
HP:0011356	Regional abnormality of skin	488	ATP2A2	OMIM:124200
HP:0011356	Regional abnormality of skin	56916	SMARCAD1	OMIM:136000
HP:0011356	Regional abnormality of skin	55906	ZC4H2	OMIM:314580
HP:0011356	Regional abnormality of skin	80326	WNT10A	OMIM:150400
HP:0011356	Regional abnormality of skin	81607	NECTIN4	OMIM:613573
HP:0011356	Regional abnormality of skin	3868	KRT16	ORPHA:2199
HP:0011356	Regional abnormality of skin	3868	KRT16	ORPHA:2309
HP:0011356	Regional abnormality of skin	3857	KRT9	ORPHA:2199
HP:0011356	Regional abnormality of skin	3857	KRT9	OMIM:144200
HP:0011356	Regional abnormality of skin	3848	KRT1	ORPHA:2199
HP:0011356	Regional abnormality of skin	3852	KRT5	ORPHA:79397
HP:0011356	Regional abnormality of skin	3852	KRT5	ORPHA:79399
HP:0011356	Regional abnormality of skin	3852	KRT5	ORPHA:79400
HP:0011356	Regional abnormality of skin	3861	KRT14	ORPHA:79397
HP:0011356	Regional abnormality of skin	3861	KRT14	ORPHA:79399
HP:0011356	Regional abnormality of skin	3861	KRT14	ORPHA:79400
HP:0011356	Regional abnormality of skin	3853	KRT6A	OMIM:615726
HP:0011356	Regional abnormality of skin	3853	KRT6A	ORPHA:2309
HP:0011356	Regional abnormality of skin	3872	KRT17	ORPHA:2309
HP:0011356	Regional abnormality of skin	3854	KRT6B	ORPHA:2309
HP:0011356	Regional abnormality of skin	117581	TWIST2	OMIM:209885
HP:0011356	Regional abnormality of skin	4297	KMT2A	OMIM:605130
HP:0011356	Regional abnormality of skin	7528	YY1	ORPHA:506358
HP:0011356	Regional abnormality of skin	3939	LDHA	ORPHA:284426
HP:0011356	Regional abnormality of skin	2934	GSN	ORPHA:85448
HP:0011356	Regional abnormality of skin	831	CAST	OMIM:616295
HP:0011356	Regional abnormality of skin	10625	IVNS1ABP	OMIM:618969
HP:0011356	Regional abnormality of skin	920	CD4	OMIM:619238
HP:0011356	Regional abnormality of skin	3981	LIG4	OMIM:606593
HP:0011356	Regional abnormality of skin	242	ALOX12B	OMIM:242100
HP:0011356	Regional abnormality of skin	59344	ALOXE3	OMIM:242100
HP:0011356	Regional abnormality of skin	59344	ALOXE3	OMIM:606545
HP:0011356	Regional abnormality of skin	126410	CYP4F22	OMIM:604777
HP:0011356	Regional abnormality of skin	126695	KDF1	OMIM:617337
HP:0011356	Regional abnormality of skin	412	STS	OMIM:308100
HP:0011356	Regional abnormality of skin	204219	CERS3	OMIM:615023
HP:0011356	Regional abnormality of skin	2312	FLG	OMIM:146700
HP:0011356	Regional abnormality of skin	51360	MBTPS2	OMIM:308205
HP:0011356	Regional abnormality of skin	340061	STING1	OMIM:615934
HP:0011356	Regional abnormality of skin	4791	NFKB2	ORPHA:293978
HP:0011356	Regional abnormality of skin	3458	IFNG	ORPHA:805
HP:0011356	Regional abnormality of skin	7248	TSC1	ORPHA:805
HP:0011356	Regional abnormality of skin	7248	TSC1	ORPHA:538
HP:0011356	Regional abnormality of skin	7249	TSC2	ORPHA:805
HP:0011356	Regional abnormality of skin	7249	TSC2	ORPHA:538
HP:0011356	Regional abnormality of skin	94	ACVRL1	OMIM:600376
HP:0011356	Regional abnormality of skin	2859	GPR35	ORPHA:171
HP:0011356	Regional abnormality of skin	10507	SEMA4D	ORPHA:171
HP:0011356	Regional abnormality of skin	4485	MST1	ORPHA:171
HP:0011356	Regional abnormality of skin	3930	LBR	OMIM:613471
HP:0011356	Regional abnormality of skin	54345	SOX18	ORPHA:69735
HP:0011356	Regional abnormality of skin	1593	CYP27A1	ORPHA:909
HP:0011356	Regional abnormality of skin	7253	TSHR	OMIM:609152
HP:0011356	Regional abnormality of skin	5449	POU1F1	OMIM:613038
HP:0011355	Localized skin lesion	10262	SF3B4	OMIM:154400
HP:0011355	Localized skin lesion	8294	H4C9	OMIM:619951
HP:0011355	Localized skin lesion	2132	EXT2	OMIM:616682
HP:0011355	Localized skin lesion	2335	FN1	ORPHA:93315
HP:0011355	Localized skin lesion	2972	BRF1	OMIM:616202
HP:0011355	Localized skin lesion	10992	SF3B2	OMIM:164210
HP:0011355	Localized skin lesion	6299	SALL1	OMIM:107480
HP:0011355	Localized skin lesion	6299	SALL1	ORPHA:857
HP:0011355	Localized skin lesion	374654	KIF7	OMIM:200990
HP:0011355	Localized skin lesion	55636	CHD7	ORPHA:138
HP:0011355	Localized skin lesion	9723	SEMA3E	ORPHA:138
HP:0011355	Localized skin lesion	10735	STAG2	OMIM:301022
HP:0011355	Localized skin lesion	10265	IRX5	OMIM:611174
HP:0011355	Localized skin lesion	23389	MED13L	ORPHA:369891
HP:0011355	Localized skin lesion	54880	BCOR	ORPHA:568
HP:0011355	Localized skin lesion	1501	CTNND2	ORPHA:281
HP:0011355	Localized skin lesion	9037	SEMA5A	ORPHA:281
HP:0011355	Localized skin lesion	4041	LRP5	ORPHA:2788
HP:0011355	Localized skin lesion	147912	SIX5	OMIM:610896
HP:0011355	Localized skin lesion	147912	SIX5	ORPHA:107
HP:0011355	Localized skin lesion	6638	SNRPN	ORPHA:177907
HP:0011355	Localized skin lesion	9343	EFTUD2	OMIM:610536
HP:0011355	Localized skin lesion	9343	EFTUD2	ORPHA:79113
HP:0011355	Localized skin lesion	3192	HNRNPU	ORPHA:238769
HP:0011355	Localized skin lesion	157680	VPS13B	ORPHA:193
HP:0011355	Localized skin lesion	8092	ALX1	ORPHA:306542
HP:0011355	Localized skin lesion	94005	PIGS	OMIM:618143
HP:0011355	Localized skin lesion	1909	EDNRA	OMIM:616367
HP:0011355	Localized skin lesion	8364	H4C3	OMIM:619758
HP:0011355	Localized skin lesion	10907	TXNL4A	OMIM:608572
HP:0011355	Localized skin lesion	79759	ZNF668	OMIM:620194
HP:0011355	Localized skin lesion	84172	POLR1B	ORPHA:861
HP:0011355	Localized skin lesion	9533	POLR1C	ORPHA:861
HP:0011355	Localized skin lesion	51082	POLR1D	ORPHA:861
HP:0011355	Localized skin lesion	6949	TCOF1	ORPHA:861
HP:0011355	Localized skin lesion	6949	TCOF1	OMIM:154500
HP:0011355	Localized skin lesion	29123	ANKRD11	ORPHA:261250
HP:0011355	Localized skin lesion	51339	DACT1	ORPHA:857
HP:0011355	Localized skin lesion	54916	TMEM260	OMIM:617478
HP:0011355	Localized skin lesion	2317	FLNB	OMIM:272460
HP:0011355	Localized skin lesion	9897	WASHC5	ORPHA:7
HP:0011355	Localized skin lesion	28952	CCDC22	ORPHA:7
HP:0011355	Localized skin lesion	2719	GPC3	OMIM:312870
HP:0011355	Localized skin lesion	2239	GPC4	OMIM:312870
HP:0011355	Localized skin lesion	3479	IGF1	ORPHA:73272
HP:0011355	Localized skin lesion	8036	SHOC2	OMIM:607721
HP:0011355	Localized skin lesion	4683	NBN	OMIM:251260
HP:0011355	Localized skin lesion	55240	STEAP3	OMIM:615234
HP:0011355	Localized skin lesion	55240	STEAP3	ORPHA:300298
HP:0011355	Localized skin lesion	55654	TMEM127	OMIM:171300
HP:0011355	Localized skin lesion	5979	RET	OMIM:171300
HP:0011355	Localized skin lesion	4149	MAX	OMIM:171300
HP:0011355	Localized skin lesion	7428	VHL	OMIM:171300
HP:0011355	Localized skin lesion	79776	ZFHX4	ORPHA:91411
HP:0011355	Localized skin lesion	6548	SLC9A1	OMIM:616291
HP:0011355	Localized skin lesion	7156	TOP3A	OMIM:618097
HP:0011355	Localized skin lesion	51729	WBP11	OMIM:619227
HP:0011355	Localized skin lesion	4771	NF2	OMIM:101000
HP:0011355	Localized skin lesion	1186	CLCN7	OMIM:618541
HP:0011355	Localized skin lesion	10283	CWC27	OMIM:250410
HP:0011355	Localized skin lesion	10283	CWC27	ORPHA:166035
HP:0011355	Localized skin lesion	8936	WASF1	OMIM:618707
HP:0011355	Localized skin lesion	55719	SLF2	OMIM:620184
HP:0011355	Localized skin lesion	285590	SH3PXD2B	OMIM:249420
HP:0011355	Localized skin lesion	5594	MAPK1	OMIM:619087
HP:0011355	Localized skin lesion	5324	PLAG1	ORPHA:397590
HP:0011355	Localized skin lesion	8091	HMGA2	ORPHA:397590
HP:0011355	Localized skin lesion	5500	PPP1CB	OMIM:617506
HP:0011355	Localized skin lesion	9652	SKIC3	OMIM:222470
HP:0011355	Localized skin lesion	9652	SKIC3	ORPHA:84064
HP:0011355	Localized skin lesion	55023	PHIP	OMIM:617991
HP:0011355	Localized skin lesion	55023	PHIP	ORPHA:589905
HP:0011355	Localized skin lesion	157570	ESCO2	OMIM:268300
HP:0011355	Localized skin lesion	6595	SMARCA2	OMIM:601358
HP:0011355	Localized skin lesion	6499	SKIC2	ORPHA:84064
HP:0011355	Localized skin lesion	22907	DHX30	OMIM:617804
HP:0011355	Localized skin lesion	5426	POLE	OMIM:618336
HP:0011355	Localized skin lesion	2137	EXTL3	ORPHA:508533
HP:0011355	Localized skin lesion	54892	NCAPG2	OMIM:618460
HP:0011355	Localized skin lesion	1859	DYRK1A	ORPHA:268261
HP:0011355	Localized skin lesion	5648	MASP1	OMIM:257920
HP:0011355	Localized skin lesion	145173	B3GLCT	ORPHA:709
HP:0011355	Localized skin lesion	6650	CAPN15	OMIM:619318
HP:0011355	Localized skin lesion	85358	SHANK3	OMIM:606232
HP:0011355	Localized skin lesion	85358	SHANK3	ORPHA:48652
HP:0011355	Localized skin lesion	57216	VANGL2	OMIM:182940
HP:0011355	Localized skin lesion	6347	CCL2	OMIM:182940
HP:0011355	Localized skin lesion	6862	TBXT	OMIM:182940
HP:0011355	Localized skin lesion	80199	FUZ	OMIM:182940
HP:0011355	Localized skin lesion	79783	SUGCT	ORPHA:35706
HP:0011355	Localized skin lesion	91179	SCARF2	OMIM:600920
HP:0011355	Localized skin lesion	55209	SETD5	OMIM:615761
HP:0011355	Localized skin lesion	4953	ODC1	ORPHA:544488
HP:0011355	Localized skin lesion	4297	KMT2A	OMIM:605130
HP:0011355	Localized skin lesion	4297	KMT2A	ORPHA:319182
HP:0011355	Localized skin lesion	1725	DHPS	OMIM:618480
HP:0011355	Localized skin lesion	6023	RMRP	ORPHA:175
HP:0011355	Localized skin lesion	56992	KIF15	ORPHA:261323
HP:0011355	Localized skin lesion	3190	HNRNPK	OMIM:616580
HP:0011355	Localized skin lesion	57492	ARID1B	OMIM:135900
HP:0011355	Localized skin lesion	10584	COLEC10	OMIM:248340
HP:0011355	Localized skin lesion	818	CAMK2G	OMIM:618522
HP:0011355	Localized skin lesion	3899	AFF3	OMIM:619297
HP:0011355	Localized skin lesion	54496	PRMT7	OMIM:617157
HP:0011355	Localized skin lesion	3209	HOXA13	ORPHA:2438
HP:0011355	Localized skin lesion	1717	DHCR7	OMIM:270400
HP:0011355	Localized skin lesion	5422	POLA1	OMIM:301030
HP:0011355	Localized skin lesion	9496	TBX4	ORPHA:261279
HP:0011355	Localized skin lesion	80776	B9D2	OMIM:614175
HP:0011355	Localized skin lesion	51305	KCNK9	ORPHA:166108
HP:0011355	Localized skin lesion	51305	KCNK9	OMIM:612292
HP:0011355	Localized skin lesion	79633	FAT4	OMIM:615546
HP:0011355	Localized skin lesion	8642	DCHS1	OMIM:601390
HP:0011355	Localized skin lesion	10522	DEAF1	OMIM:615828
HP:0011355	Localized skin lesion	3981	LIG4	ORPHA:235
HP:0011355	Localized skin lesion	54888	NSUN2	ORPHA:235
HP:0011355	Localized skin lesion	10664	CTCF	ORPHA:363611
HP:0011355	Localized skin lesion	10664	CTCF	OMIM:615502
HP:0011355	Localized skin lesion	56006	SMG9	OMIM:619995
HP:0011355	Localized skin lesion	51633	OTUD6B	OMIM:617452
HP:0011355	Localized skin lesion	51633	OTUD6B	ORPHA:505237
HP:0011355	Localized skin lesion	1857	DVL3	ORPHA:3107
HP:0011355	Localized skin lesion	1857	DVL3	OMIM:616894
HP:0011355	Localized skin lesion	2535	FZD2	ORPHA:3107
HP:0011355	Localized skin lesion	8239	USP9X	ORPHA:480880
HP:0011355	Localized skin lesion	8239	USP9X	OMIM:300968
HP:0011355	Localized skin lesion	6134	RPL10	ORPHA:459070
HP:0011355	Localized skin lesion	286	ANK1	ORPHA:251066
HP:0011355	Localized skin lesion	54499	TMCO1	OMIM:213980
HP:0011355	Localized skin lesion	8405	SPOP	OMIM:618828
HP:0011355	Localized skin lesion	23137	SMC5	OMIM:620185
HP:0011355	Localized skin lesion	23405	DICER1	OMIM:618272
HP:0011355	Localized skin lesion	7547	ZIC3	OMIM:314390
HP:0011355	Localized skin lesion	374879	ZNF699	OMIM:619488
HP:0011355	Localized skin lesion	51715	RAB23	OMIM:201000
HP:0011355	Localized skin lesion	64093	SMOC1	OMIM:206920
HP:0011355	Localized skin lesion	79971	WLS	OMIM:619648
HP:0011355	Localized skin lesion	3090	HIC1	ORPHA:531
HP:0011355	Localized skin lesion	5048	PAFAH1B1	ORPHA:531
HP:0011355	Localized skin lesion	7531	YWHAE	ORPHA:531
HP:0011355	Localized skin lesion	4123	MAN2C1	OMIM:619775
HP:0011355	Localized skin lesion	57479	PRR12	OMIM:619539
HP:0011355	Localized skin lesion	5718	PSMD12	OMIM:617516
HP:0011355	Localized skin lesion	55191	NADSYN1	OMIM:618845
HP:0011355	Localized skin lesion	10225	CD96	ORPHA:1308
HP:0011355	Localized skin lesion	23299	BICD2	OMIM:618291
HP:0011355	Localized skin lesion	23394	ADNP	OMIM:615873
HP:0011355	Localized skin lesion	1278	COL1A2	ORPHA:230851
HP:0011355	Localized skin lesion	1278	COL1A2	OMIM:166210
HP:0011355	Localized skin lesion	1278	COL1A2	OMIM:225320
HP:0011355	Localized skin lesion	1278	COL1A2	ORPHA:1899
HP:0011355	Localized skin lesion	89910	UBE3B	OMIM:244450
HP:0011355	Localized skin lesion	5831	PYCR1	OMIM:614438
HP:0011355	Localized skin lesion	5831	PYCR1	ORPHA:2078
HP:0011355	Localized skin lesion	3849	KRT2	ORPHA:455
HP:0011355	Localized skin lesion	2332	FMR1	ORPHA:449291
HP:0011355	Localized skin lesion	4998	ORC1	OMIM:224690
HP:0011355	Localized skin lesion	10616	RBCK1	OMIM:615895
HP:0011355	Localized skin lesion	1147	CHUK	OMIM:613630
HP:0011355	Localized skin lesion	9719	ADAMTSL2	ORPHA:1901
HP:0011355	Localized skin lesion	9509	ADAMTS2	ORPHA:1901
HP:0011355	Localized skin lesion	4507	MTAP	OMIM:112250
HP:0011355	Localized skin lesion	25	ABL1	OMIM:617602
HP:0011355	Localized skin lesion	23314	SATB2	OMIM:612313
HP:0011355	Localized skin lesion	375	ARF1	ORPHA:98892
HP:0011355	Localized skin lesion	4131	MAP1B	ORPHA:98892
HP:0011355	Localized skin lesion	23327	NEDD4L	ORPHA:98892
HP:0011355	Localized skin lesion	160418	TMTC3	ORPHA:98892
HP:0011355	Localized skin lesion	10564	ARFGEF2	ORPHA:98892
HP:0011355	Localized skin lesion	55780	ERMARD	ORPHA:98892
HP:0011355	Localized skin lesion	80326	WNT10A	OMIM:150400
HP:0011355	Localized skin lesion	81031	SLC2A10	ORPHA:3342
HP:0011355	Localized skin lesion	81031	SLC2A10	OMIM:208050
HP:0011355	Localized skin lesion	11128	POLR3A	OMIM:264090
HP:0011355	Localized skin lesion	11128	POLR3A	ORPHA:3455
HP:0011355	Localized skin lesion	5832	ALDH18A1	OMIM:219150
HP:0011355	Localized skin lesion	126792	B3GALT6	ORPHA:536467
HP:0011355	Localized skin lesion	5295	PIK3R1	OMIM:269880
HP:0011355	Localized skin lesion	92344	GORAB	ORPHA:2078
HP:0011355	Localized skin lesion	91252	SLC39A13	ORPHA:157965
HP:0011355	Localized skin lesion	91252	SLC39A13	OMIM:612350
HP:0011355	Localized skin lesion	4921	DDR2	OMIM:618175
HP:0011355	Localized skin lesion	5587	PRKD1	OMIM:617364
HP:0011355	Localized skin lesion	7189	TRAF6	ORPHA:1810
HP:0011355	Localized skin lesion	128178	EDARADD	ORPHA:1810
HP:0011355	Localized skin lesion	10913	EDAR	ORPHA:1810
HP:0011355	Localized skin lesion	11285	B4GALT7	ORPHA:75496
HP:0011355	Localized skin lesion	92840	REEP6	ORPHA:791
HP:0011355	Localized skin lesion	6094	ROM1	ORPHA:791
HP:0011355	Localized skin lesion	6017	RLBP1	ORPHA:791
HP:0011355	Localized skin lesion	7401	CLRN1	ORPHA:791
HP:0011355	Localized skin lesion	24	ABCA4	ORPHA:791
HP:0011355	Localized skin lesion	130557	ZNF513	ORPHA:791
HP:0011355	Localized skin lesion	582	BBS1	ORPHA:791
HP:0011355	Localized skin lesion	92211	CDHR1	ORPHA:791
HP:0011355	Localized skin lesion	23568	ARL2BP	ORPHA:791
HP:0011355	Localized skin lesion	6121	RPE65	ORPHA:791
HP:0011355	Localized skin lesion	54806	AHI1	ORPHA:791
HP:0011355	Localized skin lesion	6101	RP1	ORPHA:791
HP:0011355	Localized skin lesion	3419	IDH3A	ORPHA:791
HP:0011355	Localized skin lesion	4751	NEK2	ORPHA:791
HP:0011355	Localized skin lesion	346007	EYS	ORPHA:791
HP:0011355	Localized skin lesion	8100	IFT88	ORPHA:791
HP:0011355	Localized skin lesion	23020	SNRNP200	ORPHA:791
HP:0011355	Localized skin lesion	762	CA4	ORPHA:791
HP:0011355	Localized skin lesion	138050	HGSNAT	ORPHA:791
HP:0011355	Localized skin lesion	196	AHR	ORPHA:791
HP:0011355	Localized skin lesion	3614	IMPDH1	ORPHA:791
HP:0011355	Localized skin lesion	123016	TTC8	ORPHA:791
HP:0011355	Localized skin lesion	6103	RPGR	ORPHA:791
HP:0011355	Localized skin lesion	1406	CRX	ORPHA:791
HP:0011355	Localized skin lesion	5148	PDE6G	ORPHA:791
HP:0011355	Localized skin lesion	26160	IFT172	ORPHA:791
HP:0011355	Localized skin lesion	26121	PRPF31	ORPHA:791
HP:0011355	Localized skin lesion	583	BBS2	ORPHA:791
HP:0011355	Localized skin lesion	4117	MAK	ORPHA:791
HP:0011355	Localized skin lesion	25794	FSCN2	ORPHA:791
HP:0011355	Localized skin lesion	375298	CERKL	ORPHA:791
HP:0011355	Localized skin lesion	3420	IDH3B	ORPHA:791
HP:0011355	Localized skin lesion	57670	KIAA1549	ORPHA:791
HP:0011355	Localized skin lesion	7275	TUB	ORPHA:791
HP:0011355	Localized skin lesion	24148	PRPF6	ORPHA:791
HP:0011355	Localized skin lesion	23418	CRB1	ORPHA:791
HP:0011355	Localized skin lesion	10461	MERTK	ORPHA:791
HP:0011355	Localized skin lesion	57709	SLC7A14	ORPHA:791
HP:0011355	Localized skin lesion	768206	PRCD	ORPHA:791
HP:0011355	Localized skin lesion	7399	USH2A	ORPHA:791
HP:0011355	Localized skin lesion	23370	ARHGEF18	ORPHA:791
HP:0011355	Localized skin lesion	5949	RBP3	ORPHA:791
HP:0011355	Localized skin lesion	6010	RHO	ORPHA:791
HP:0011355	Localized skin lesion	6100	RP9	ORPHA:791
HP:0011355	Localized skin lesion	10002	NR2E3	ORPHA:791
HP:0011355	Localized skin lesion	9227	LRAT	ORPHA:791
HP:0011355	Localized skin lesion	84140	FAM161A	ORPHA:791
HP:0011355	Localized skin lesion	55812	SPATA7	ORPHA:791
HP:0011355	Localized skin lesion	55624	POMGNT1	ORPHA:791
HP:0011355	Localized skin lesion	79797	ZNF408	ORPHA:791
HP:0011355	Localized skin lesion	403	ARL3	ORPHA:791
HP:0011355	Localized skin lesion	5145	PDE6A	ORPHA:791
HP:0011355	Localized skin lesion	10210	TOPORS	ORPHA:791
HP:0011355	Localized skin lesion	8842	PROM1	ORPHA:791
HP:0011355	Localized skin lesion	9128	PRPF4	ORPHA:791
HP:0011355	Localized skin lesion	145226	RDH12	ORPHA:791
HP:0011355	Localized skin lesion	50939	IMPG2	ORPHA:791
HP:0011355	Localized skin lesion	49855	SCAPER	ORPHA:791
HP:0011355	Localized skin lesion	9742	IFT140	ORPHA:791
HP:0011355	Localized skin lesion	2979	GUCA1B	ORPHA:791
HP:0011355	Localized skin lesion	1259	CNGA1	ORPHA:791
HP:0011355	Localized skin lesion	1258	CNGB1	ORPHA:791
HP:0011355	Localized skin lesion	60509	AGBL5	ORPHA:791
HP:0011355	Localized skin lesion	5961	PRPH2	ORPHA:791
HP:0011355	Localized skin lesion	388939	PCARE	ORPHA:791
HP:0011355	Localized skin lesion	7439	BEST1	ORPHA:791
HP:0011355	Localized skin lesion	9785	DHX38	ORPHA:791
HP:0011355	Localized skin lesion	7287	TULP1	ORPHA:791
HP:0011355	Localized skin lesion	5995	RGR	ORPHA:791
HP:0011355	Localized skin lesion	9129	PRPF3	ORPHA:791
HP:0011355	Localized skin lesion	55975	KLHL7	ORPHA:791
HP:0011355	Localized skin lesion	3617	IMPG1	ORPHA:791
HP:0011355	Localized skin lesion	94137	RP1L1	ORPHA:791
HP:0011355	Localized skin lesion	5158	PDE6B	ORPHA:791
HP:0011355	Localized skin lesion	6102	RP2	ORPHA:791
HP:0011355	Localized skin lesion	55857	KIZ	ORPHA:791
HP:0011355	Localized skin lesion	64218	SEMA4A	ORPHA:791
HP:0011355	Localized skin lesion	4901	NRL	ORPHA:791
HP:0011355	Localized skin lesion	157657	CFAP418	ORPHA:791
HP:0011355	Localized skin lesion	10594	PRPF8	ORPHA:791
HP:0011355	Localized skin lesion	84100	ARL6	ORPHA:791
HP:0011355	Localized skin lesion	6295	SAG	ORPHA:791
HP:0011355	Localized skin lesion	79947	DHDDS	ORPHA:791
HP:0011355	Localized skin lesion	4914	NTRK1	ORPHA:642
HP:0011355	Localized skin lesion	23385	NCSTN	OMIM:142690
HP:0011355	Localized skin lesion	1371	CPOX	ORPHA:79273
HP:0011355	Localized skin lesion	3949	LDLR	ORPHA:391665
HP:0011355	Localized skin lesion	255738	PCSK9	ORPHA:391665
HP:0011355	Localized skin lesion	26119	LDLRAP1	ORPHA:391665
HP:0011355	Localized skin lesion	338	APOB	ORPHA:391665
HP:0011355	Localized skin lesion	64240	ABCG5	ORPHA:391665
HP:0011355	Localized skin lesion	2538	G6PC1	OMIM:232200
HP:0011355	Localized skin lesion	5468	PPARG	ORPHA:79083
HP:0011355	Localized skin lesion	2542	SLC37A4	OMIM:232220
HP:0011355	Localized skin lesion	2542	SLC37A4	OMIM:232240
HP:0011355	Localized skin lesion	6609	SMPD1	OMIM:257200
HP:0011355	Localized skin lesion	335	APOA1	ORPHA:425
HP:0011355	Localized skin lesion	19	ABCA1	ORPHA:425
HP:0011355	Localized skin lesion	1281	COL3A1	OMIM:130050
HP:0011355	Localized skin lesion	1277	COL1A1	ORPHA:287
HP:0011355	Localized skin lesion	1289	COL5A1	ORPHA:287
HP:0011355	Localized skin lesion	1289	COL5A1	OMIM:130000
HP:0011355	Localized skin lesion	1290	COL5A2	ORPHA:287
HP:0011355	Localized skin lesion	1290	COL5A2	OMIM:130010
HP:0011355	Localized skin lesion	5351	PLOD1	OMIM:225400
HP:0011355	Localized skin lesion	84627	ZNF469	OMIM:229200
HP:0011355	Localized skin lesion	5144	PDE4D	ORPHA:950
HP:0011355	Localized skin lesion	1139	CHRNA7	ORPHA:199318
HP:0011355	Localized skin lesion	23512	SUZ12	OMIM:618786
HP:0011355	Localized skin lesion	6711	SPTBN1	OMIM:619475
HP:0011355	Localized skin lesion	3257	HPS1	OMIM:203300
HP:0011355	Localized skin lesion	5781	PTPN11	ORPHA:500
HP:0011355	Localized skin lesion	5781	PTPN11	ORPHA:648
HP:0011355	Localized skin lesion	5894	RAF1	ORPHA:500
HP:0011355	Localized skin lesion	5894	RAF1	ORPHA:648
HP:0011355	Localized skin lesion	4982	TNFRSF11B	ORPHA:2801
HP:0011355	Localized skin lesion	8792	TNFRSF11A	ORPHA:2801
HP:0011355	Localized skin lesion	63915	BLOC1S5	OMIM:619172
HP:0011355	Localized skin lesion	8643	PTCH2	ORPHA:377
HP:0011355	Localized skin lesion	51684	SUFU	ORPHA:377
HP:0011355	Localized skin lesion	4784	NFIX	OMIM:602535
HP:0011355	Localized skin lesion	2146	EZH2	OMIM:277590
HP:0011355	Localized skin lesion	22800	RRAS2	ORPHA:648
HP:0011355	Localized skin lesion	867	CBL	ORPHA:648
HP:0011355	Localized skin lesion	8216	LZTR1	ORPHA:648
HP:0011355	Localized skin lesion	6016	RIT1	ORPHA:648
HP:0011355	Localized skin lesion	6237	RRAS	ORPHA:648
HP:0011355	Localized skin lesion	22808	MRAS	ORPHA:648
HP:0011355	Localized skin lesion	200734	SPRED2	ORPHA:648
HP:0011355	Localized skin lesion	6654	SOS1	ORPHA:648
HP:0011355	Localized skin lesion	6655	SOS2	ORPHA:648
HP:0011355	Localized skin lesion	5922	RASA2	ORPHA:648
HP:0011355	Localized skin lesion	60681	FKBP10	ORPHA:1149
HP:0011355	Localized skin lesion	8726	EED	OMIM:617561
HP:0011355	Localized skin lesion	55131	RBM28	OMIM:612079
HP:0011355	Localized skin lesion	4352	MPL	ORPHA:3319
HP:0011355	Localized skin lesion	7066	THPO	ORPHA:3319
HP:0011355	Localized skin lesion	1001	CDH3	ORPHA:1573
HP:0011355	Localized skin lesion	2200	FBN1	OMIM:616914
HP:0011355	Localized skin lesion	25778	DSTYK	ORPHA:101003
HP:0011355	Localized skin lesion	25778	DSTYK	OMIM:270750
HP:0011355	Localized skin lesion	344	APOC2	OMIM:207750
HP:0011355	Localized skin lesion	3990	LIPC	OMIM:614025
HP:0011355	Localized skin lesion	3990	LIPC	ORPHA:140905
HP:0011355	Localized skin lesion	338328	GPIHBP1	OMIM:615947
HP:0011355	Localized skin lesion	4023	LPL	OMIM:238600
HP:0011355	Localized skin lesion	249	ALPL	OMIM:241500
HP:0011355	Localized skin lesion	249	ALPL	OMIM:241510
HP:0011355	Localized skin lesion	2161	F12	ORPHA:330
HP:0011355	Localized skin lesion	81846	SBF2	ORPHA:99956
HP:0011355	Localized skin lesion	10558	SPTLC1	ORPHA:36386
HP:0011355	Localized skin lesion	25923	ATL3	ORPHA:36386
HP:0011355	Localized skin lesion	9517	SPTLC2	ORPHA:36386
HP:0011355	Localized skin lesion	51062	ATL1	ORPHA:36386
HP:0011355	Localized skin lesion	23141	ANKLE2	OMIM:616681
HP:0011355	Localized skin lesion	112858	TP53RK	OMIM:617730
HP:0011355	Localized skin lesion	23135	KDM6B	OMIM:618505
HP:0011355	Localized skin lesion	60	ACTB	ORPHA:64755
HP:0011355	Localized skin lesion	3569	IL6	OMIM:148000
HP:0011355	Localized skin lesion	1161	ERCC8	ORPHA:90321
HP:0011355	Localized skin lesion	1161	ERCC8	ORPHA:90322
HP:0011355	Localized skin lesion	2067	ERCC1	ORPHA:90322
HP:0011355	Localized skin lesion	8869	ST3GAL5	OMIM:609056
HP:0011355	Localized skin lesion	54	ACP5	OMIM:607944
HP:0011355	Localized skin lesion	716	C1S	ORPHA:75392
HP:0011355	Localized skin lesion	715	C1R	ORPHA:75392
HP:0011355	Localized skin lesion	3643	INSR	OMIM:246200
HP:0011355	Localized skin lesion	1663	DDX11	OMIM:613398
HP:0011355	Localized skin lesion	4313	MMP2	OMIM:259600
HP:0011355	Localized skin lesion	10457	GPNMB	OMIM:617920
HP:0011355	Localized skin lesion	116519	APOA5	OMIM:145750
HP:0011355	Localized skin lesion	4920	ROR2	OMIM:268310
HP:0011355	Localized skin lesion	4920	ROR2	ORPHA:1507
HP:0011355	Localized skin lesion	22827	PUF60	ORPHA:508498
HP:0011355	Localized skin lesion	80267	EDEM3	OMIM:619493
HP:0011355	Localized skin lesion	1028	CDKN1C	OMIM:130650
HP:0011355	Localized skin lesion	10984	KCNQ1OT1	OMIM:130650
HP:0011355	Localized skin lesion	3481	IGF2	OMIM:130650
HP:0011355	Localized skin lesion	3481	IGF2	ORPHA:231140
HP:0011355	Localized skin lesion	3784	KCNQ1	OMIM:130650
HP:0011355	Localized skin lesion	5290	PIK3CA	ORPHA:60040
HP:0011355	Localized skin lesion	91754	NEK9	ORPHA:64754
HP:0011355	Localized skin lesion	6804	STX1A	ORPHA:904
HP:0011355	Localized skin lesion	7461	CLIP2	ORPHA:904
HP:0011355	Localized skin lesion	84277	DNAJC30	ORPHA:904
HP:0011355	Localized skin lesion	8468	FKBP6	ORPHA:904
HP:0011355	Localized skin lesion	5982	RFC2	ORPHA:904
HP:0011355	Localized skin lesion	2969	GTF2I	ORPHA:904
HP:0011355	Localized skin lesion	3984	LIMK1	ORPHA:904
HP:0011355	Localized skin lesion	9569	GTF2IRD1	ORPHA:904
HP:0011355	Localized skin lesion	155382	VPS37D	ORPHA:904
HP:0011355	Localized skin lesion	155368	METTL27	ORPHA:904
HP:0011355	Localized skin lesion	114049	BUD23	ORPHA:904
HP:0011355	Localized skin lesion	7458	EIF4H	ORPHA:904
HP:0011355	Localized skin lesion	84163	GTF2IRD2	ORPHA:904
HP:0011355	Localized skin lesion	9275	BCL7B	ORPHA:904
HP:0011355	Localized skin lesion	26608	TBL2	ORPHA:904
HP:0011355	Localized skin lesion	653361	NCF1	ORPHA:904
HP:0011355	Localized skin lesion	135886	TMEM270	ORPHA:904
HP:0011355	Localized skin lesion	51085	MLXIPL	ORPHA:904
HP:0011355	Localized skin lesion	9031	BAZ1B	ORPHA:904
HP:0011355	Localized skin lesion	2006	ELN	ORPHA:904
HP:0011355	Localized skin lesion	2260	FGFR1	ORPHA:2396
HP:0011355	Localized skin lesion	64359	NXN	ORPHA:1507
HP:0011355	Localized skin lesion	2776	GNAQ	OMIM:163000
HP:0011355	Localized skin lesion	2776	GNAQ	ORPHA:624
HP:0011355	Localized skin lesion	7474	WNT5A	OMIM:180700
HP:0011355	Localized skin lesion	1855	DVL1	OMIM:180700
HP:0011355	Localized skin lesion	283120	H19	ORPHA:231140
HP:0011355	Localized skin lesion	171023	ASXL1	ORPHA:97297
HP:0011355	Localized skin lesion	171023	ASXL1	OMIM:605039
HP:0011355	Localized skin lesion	1836	SLC26A2	OMIM:222600
HP:0011355	Localized skin lesion	7043	TGFB3	OMIM:615582
HP:0011355	Localized skin lesion	26040	SETBP1	OMIM:616078
HP:0011355	Localized skin lesion	4591	TRIM37	OMIM:253250
HP:0011355	Localized skin lesion	1545	CYP1B1	ORPHA:98976
HP:0011355	Localized skin lesion	4053	LTBP2	ORPHA:98976
HP:0011355	Localized skin lesion	4653	MYOC	ORPHA:98976
HP:0011355	Localized skin lesion	7010	TEK	ORPHA:98976
HP:0011355	Localized skin lesion	9126	SMC3	OMIM:610759
HP:0011355	Localized skin lesion	57167	SALL4	ORPHA:233
HP:0011355	Localized skin lesion	9935	MAFB	ORPHA:233
HP:0011355	Localized skin lesion	1123	CHN1	ORPHA:233
HP:0011355	Localized skin lesion	4254	KITLG	OMIM:145250
HP:0011355	Localized skin lesion	4254	KITLG	ORPHA:895
HP:0011355	Localized skin lesion	4157	MC1R	ORPHA:626
HP:0011355	Localized skin lesion	1235	CCR6	ORPHA:220402
HP:0011355	Localized skin lesion	79932	KIAA0319L	ORPHA:220402
HP:0011355	Localized skin lesion	1490	CCN2	ORPHA:220402
HP:0011355	Localized skin lesion	3663	IRF5	ORPHA:220402
HP:0011355	Localized skin lesion	857	CAV1	ORPHA:220402
HP:0011355	Localized skin lesion	3123	HLA-DRB1	ORPHA:220402
HP:0011355	Localized skin lesion	11322	TMC6	ORPHA:302
HP:0011355	Localized skin lesion	3574	IL7	ORPHA:302
HP:0011355	Localized skin lesion	147138	TMC8	ORPHA:302
HP:0011355	Localized skin lesion	10519	CIB1	ORPHA:302
HP:0011355	Localized skin lesion	6925	TCF4	ORPHA:2896
HP:0011355	Localized skin lesion	8517	IKBKG	ORPHA:464
HP:0011355	Localized skin lesion	6663	SOX10	OMIM:613266
HP:0011355	Localized skin lesion	6663	SOX10	OMIM:609136
HP:0011355	Localized skin lesion	6663	SOX10	ORPHA:895
HP:0011355	Localized skin lesion	6663	SOX10	ORPHA:163746
HP:0011355	Localized skin lesion	6663	SOX10	OMIM:611584
HP:0011355	Localized skin lesion	1908	EDN3	OMIM:613265
HP:0011355	Localized skin lesion	6608	SMO	ORPHA:1553
HP:0011355	Localized skin lesion	1910	EDNRB	OMIM:277580
HP:0011355	Localized skin lesion	1910	EDNRB	ORPHA:895
HP:0011355	Localized skin lesion	326	AIRE	ORPHA:3453
HP:0011355	Localized skin lesion	6591	SNAI2	ORPHA:2884
HP:0011355	Localized skin lesion	6591	SNAI2	ORPHA:895
HP:0011355	Localized skin lesion	3815	KIT	ORPHA:2884
HP:0011355	Localized skin lesion	695	BTK	ORPHA:47
HP:0011355	Localized skin lesion	4286	MITF	ORPHA:895
HP:0011355	Localized skin lesion	7299	TYR	ORPHA:895
HP:0011355	Localized skin lesion	5077	PAX3	ORPHA:894
HP:0011355	Localized skin lesion	5077	PAX3	OMIM:148820
HP:0011355	Localized skin lesion	340024	SLC6A19	ORPHA:2116
HP:0011355	Localized skin lesion	57393	CLTRN	ORPHA:2116
HP:0011355	Localized skin lesion	5116	PCNT	ORPHA:2637
HP:0011355	Localized skin lesion	2077	ERF	ORPHA:207
HP:0011355	Localized skin lesion	2581	GALC	ORPHA:206436
HP:0011355	Localized skin lesion	5660	PSAP	ORPHA:206436
HP:0011355	Localized skin lesion	672	BRCA1	ORPHA:84
HP:0011355	Localized skin lesion	10459	MAD2L2	ORPHA:84
HP:0011355	Localized skin lesion	7516	XRCC2	ORPHA:84
HP:0011355	Localized skin lesion	29089	UBE2T	ORPHA:84
HP:0011355	Localized skin lesion	675	BRCA2	ORPHA:84
HP:0011355	Localized skin lesion	55120	FANCL	ORPHA:84
HP:0011355	Localized skin lesion	2177	FANCD2	ORPHA:84
HP:0011355	Localized skin lesion	2175	FANCA	ORPHA:84
HP:0011355	Localized skin lesion	2187	FANCB	ORPHA:84
HP:0011355	Localized skin lesion	2176	FANCC	ORPHA:84
HP:0011355	Localized skin lesion	2178	FANCE	ORPHA:84
HP:0011355	Localized skin lesion	2188	FANCF	ORPHA:84
HP:0011355	Localized skin lesion	2189	FANCG	ORPHA:84
HP:0011355	Localized skin lesion	5888	RAD51	ORPHA:84
HP:0011355	Localized skin lesion	5889	RAD51C	ORPHA:84
HP:0011355	Localized skin lesion	55159	RFWD3	ORPHA:84
HP:0011355	Localized skin lesion	83990	BRIP1	ORPHA:84
HP:0011355	Localized skin lesion	57697	FANCM	ORPHA:84
HP:0011355	Localized skin lesion	79728	PALB2	ORPHA:84
HP:0011355	Localized skin lesion	84464	SLX4	ORPHA:84
HP:0011355	Localized skin lesion	2072	ERCC4	ORPHA:84
HP:0011355	Localized skin lesion	2072	ERCC4	ORPHA:910
HP:0011355	Localized skin lesion	55215	FANCI	ORPHA:84
HP:0011355	Localized skin lesion	1312	COMT	ORPHA:567
HP:0011355	Localized skin lesion	221037	JMJD1C	ORPHA:567
HP:0011355	Localized skin lesion	2812	GP1BB	ORPHA:567
HP:0011355	Localized skin lesion	6239	RREB1	ORPHA:567
HP:0011355	Localized skin lesion	6899	TBX1	ORPHA:567
HP:0011355	Localized skin lesion	7290	HIRA	ORPHA:567
HP:0011355	Localized skin lesion	9632	SEC24C	ORPHA:567
HP:0011355	Localized skin lesion	7353	UFD1	ORPHA:567
HP:0011355	Localized skin lesion	421	ARVCF	ORPHA:567
HP:0011355	Localized skin lesion	54539	NDUFB11	ORPHA:2556
HP:0011355	Localized skin lesion	3052	HCCS	ORPHA:2556
HP:0011355	Localized skin lesion	10483	SEC23B	ORPHA:201
HP:0011355	Localized skin lesion	6390	SDHB	ORPHA:201
HP:0011355	Localized skin lesion	6392	SDHD	ORPHA:201
HP:0011355	Localized skin lesion	6391	SDHC	ORPHA:201
HP:0011355	Localized skin lesion	205717	USF3	ORPHA:201
HP:0011355	Localized skin lesion	100144748	KLLN	ORPHA:201
HP:0011355	Localized skin lesion	117581	TWIST2	ORPHA:1807
HP:0011355	Localized skin lesion	10058	ABCB6	ORPHA:241
HP:0011355	Localized skin lesion	80169	CTC1	ORPHA:1775
HP:0011355	Localized skin lesion	26277	TINF2	ORPHA:1775
HP:0011355	Localized skin lesion	55651	NHP2	ORPHA:1775
HP:0011355	Localized skin lesion	79650	USB1	ORPHA:1775
HP:0011355	Localized skin lesion	55135	WRAP53	ORPHA:1775
HP:0011355	Localized skin lesion	51750	RTEL1	ORPHA:1775
HP:0011355	Localized skin lesion	4869	NPM1	ORPHA:1775
HP:0011355	Localized skin lesion	7012	TERC	ORPHA:1775
HP:0011355	Localized skin lesion	55505	NOP10	ORPHA:1775
HP:0011355	Localized skin lesion	5073	PARN	ORPHA:1775
HP:0011355	Localized skin lesion	7015	TERT	ORPHA:1775
HP:0011355	Localized skin lesion	1736	DKC1	ORPHA:1775
HP:0011355	Localized skin lesion	7298	TYMS	ORPHA:1775
HP:0011355	Localized skin lesion	355	FAS	ORPHA:3437
HP:0011355	Localized skin lesion	26191	PTPN22	ORPHA:3437
HP:0011355	Localized skin lesion	2475	MTOR	ORPHA:457485
HP:0011355	Localized skin lesion	1493	CTLA4	ORPHA:2584
HP:0011355	Localized skin lesion	940	CD28	ORPHA:2584
HP:0011355	Localized skin lesion	7133	TNFRSF1B	ORPHA:2584
HP:0011355	Localized skin lesion	2068	ERCC2	ORPHA:910
HP:0011355	Localized skin lesion	7507	XPA	ORPHA:910
HP:0011355	Localized skin lesion	2071	ERCC3	ORPHA:910
HP:0011355	Localized skin lesion	7508	XPC	ORPHA:910
HP:0011355	Localized skin lesion	1643	DDB2	ORPHA:910
HP:0011355	Localized skin lesion	2073	ERCC5	ORPHA:910
HP:0011355	Localized skin lesion	1075	CTSC	ORPHA:678
HP:0011355	Localized skin lesion	7703	PCGF2	OMIM:618371
HP:0011355	Localized skin lesion	284058	KANSL1	ORPHA:363965
HP:0011355	Localized skin lesion	284058	KANSL1	ORPHA:363958
HP:0011355	Localized skin lesion	6794	STK11	OMIM:155600
HP:0011355	Localized skin lesion	673	BRAF	OMIM:155600
HP:0011355	Localized skin lesion	673	BRAF	OMIM:115150
HP:0011355	Localized skin lesion	673	BRAF	OMIM:613707
HP:0011355	Localized skin lesion	673	BRAF	OMIM:613706
HP:0011355	Localized skin lesion	1019	CDK4	OMIM:609048
HP:0011355	Localized skin lesion	4893	NRAS	OMIM:162900
HP:0011355	Localized skin lesion	3265	HRAS	OMIM:162900
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:89838
HP:0011355	Localized skin lesion	3861	KRT14	OMIM:131760
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:79400
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:69087
HP:0011355	Localized skin lesion	3861	KRT14	OMIM:131900
HP:0011355	Localized skin lesion	3861	KRT14	OMIM:131800
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:79396
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:79397
HP:0011355	Localized skin lesion	3861	KRT14	ORPHA:79399
HP:0011355	Localized skin lesion	55612	FERMT1	ORPHA:2908
HP:0011355	Localized skin lesion	5339	PLEC	OMIM:226730
HP:0011355	Localized skin lesion	5339	PLEC	OMIM:226670
HP:0011355	Localized skin lesion	5339	PLEC	ORPHA:158684
HP:0011355	Localized skin lesion	3691	ITGB4	OMIM:226730
HP:0011355	Localized skin lesion	3691	ITGB4	ORPHA:158684
HP:0011355	Localized skin lesion	3691	ITGB4	ORPHA:79402
HP:0011355	Localized skin lesion	3691	ITGB4	ORPHA:251393
HP:0011355	Localized skin lesion	3852	KRT5	OMIM:131760
HP:0011355	Localized skin lesion	3852	KRT5	ORPHA:79400
HP:0011355	Localized skin lesion	3852	KRT5	ORPHA:79396
HP:0011355	Localized skin lesion	3852	KRT5	ORPHA:79397
HP:0011355	Localized skin lesion	3852	KRT5	ORPHA:79399
HP:0011355	Localized skin lesion	8481	OFD1	ORPHA:2750
HP:0011355	Localized skin lesion	8481	OFD1	OMIM:311200
HP:0011355	Localized skin lesion	56916	SMARCAD1	OMIM:129200
HP:0011355	Localized skin lesion	56916	SMARCAD1	ORPHA:1658
HP:0011355	Localized skin lesion	1540	CYLD	OMIM:605041
HP:0011355	Localized skin lesion	3909	LAMA3	ORPHA:79402
HP:0011355	Localized skin lesion	3909	LAMA3	OMIM:226700
HP:0011355	Localized skin lesion	1308	COL17A1	ORPHA:79402
HP:0011355	Localized skin lesion	1308	COL17A1	ORPHA:79406
HP:0011355	Localized skin lesion	1308	COL17A1	ORPHA:251393
HP:0011355	Localized skin lesion	3918	LAMC2	ORPHA:79402
HP:0011355	Localized skin lesion	3918	LAMC2	OMIM:226700
HP:0011355	Localized skin lesion	3914	LAMB3	ORPHA:79402
HP:0011355	Localized skin lesion	3914	LAMB3	OMIM:226700
HP:0011355	Localized skin lesion	1294	COL7A1	OMIM:604129
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:79408
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:79409
HP:0011355	Localized skin lesion	1294	COL7A1	OMIM:226600
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:231568
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:89842
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:158673
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:89843
HP:0011355	Localized skin lesion	1294	COL7A1	OMIM:131750
HP:0011355	Localized skin lesion	1294	COL7A1	OMIM:131705
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:79410
HP:0011355	Localized skin lesion	1294	COL7A1	ORPHA:79411
HP:0011355	Localized skin lesion	4312	MMP1	ORPHA:79408
HP:0011355	Localized skin lesion	4312	MMP1	OMIM:226600
HP:0011355	Localized skin lesion	3977	LIFR	OMIM:601559
HP:0011355	Localized skin lesion	5498	PPOX	ORPHA:79473
HP:0011355	Localized skin lesion	5727	PTCH1	OMIM:109400
HP:0011355	Localized skin lesion	285203	EOGT	OMIM:615297
HP:0011355	Localized skin lesion	285203	EOGT	ORPHA:974
HP:0011355	Localized skin lesion	4851	NOTCH1	OMIM:616028
HP:0011355	Localized skin lesion	4851	NOTCH1	ORPHA:974
HP:0011355	Localized skin lesion	3655	ITGA6	ORPHA:79403
HP:0011355	Localized skin lesion	7020	TFAP2A	OMIM:113620
HP:0011355	Localized skin lesion	284252	KCTD1	OMIM:181270
HP:0011355	Localized skin lesion	1832	DSP	OMIM:609638
HP:0011355	Localized skin lesion	3845	KRAS	OMIM:600268
HP:0011355	Localized skin lesion	1349	COX7B	OMIM:300887
HP:0011355	Localized skin lesion	6872	TAF1	OMIM:300966
HP:0011355	Localized skin lesion	3313	HSPA9	OMIM:616854
HP:0011355	Localized skin lesion	57572	DOCK6	OMIM:614219
HP:0011355	Localized skin lesion	57572	DOCK6	ORPHA:974
HP:0011355	Localized skin lesion	3516	RBPJ	OMIM:614814
HP:0011355	Localized skin lesion	3516	RBPJ	ORPHA:974
HP:0011355	Localized skin lesion	57514	ARHGAP31	ORPHA:974
HP:0011355	Localized skin lesion	54567	DLL4	ORPHA:974
HP:0011355	Localized skin lesion	526	ATP6V1B2	ORPHA:79499
HP:0011355	Localized skin lesion	4088	SMAD3	ORPHA:284984
HP:0011355	Localized skin lesion	4088	SMAD3	OMIM:613795
HP:0011355	Localized skin lesion	8450	CUL4B	OMIM:300354
HP:0011355	Localized skin lesion	84196	USP48	ORPHA:96253
HP:0011355	Localized skin lesion	7157	TP53	ORPHA:96253
HP:0011355	Localized skin lesion	7157	TP53	ORPHA:1501
HP:0011355	Localized skin lesion	9101	USP8	ORPHA:96253
HP:0011355	Localized skin lesion	9101	USP8	OMIM:219090
HP:0011355	Localized skin lesion	64072	CDH23	ORPHA:96253
HP:0011355	Localized skin lesion	2908	NR3C1	ORPHA:96253
HP:0011355	Localized skin lesion	546	ATRX	ORPHA:96253
HP:0011355	Localized skin lesion	23013	SPEN	OMIM:619312
HP:0011355	Localized skin lesion	1315	COPB1	OMIM:619255
HP:0011355	Localized skin lesion	5566	PRKACA	ORPHA:189439
HP:0011355	Localized skin lesion	8622	PDE8B	ORPHA:189439
HP:0011355	Localized skin lesion	4087	SMAD2	OMIM:619656
HP:0011355	Localized skin lesion	7048	TGFBR2	OMIM:610168
HP:0011355	Localized skin lesion	7048	TGFBR2	ORPHA:60030
HP:0011355	Localized skin lesion	84133	ZNRF3	ORPHA:1501
HP:0011355	Localized skin lesion	1499	CTNNB1	ORPHA:1501
HP:0011355	Localized skin lesion	7148	TNXB	OMIM:606408
HP:0011355	Localized skin lesion	633	BGN	OMIM:300989
HP:0011355	Localized skin lesion	4015	LOX	OMIM:617168
HP:0011355	Localized skin lesion	1742	DLG4	OMIM:618793
HP:0011355	Localized skin lesion	7046	TGFBR1	ORPHA:60030
HP:0011355	Localized skin lesion	10526	IPO8	ORPHA:60030
HP:0011355	Localized skin lesion	79798	ARMC5	ORPHA:189427
HP:0011355	Localized skin lesion	9049	AIP	OMIM:219090
HP:0011355	Localized skin lesion	5167	ENPP1	ORPHA:758
HP:0011355	Localized skin lesion	368	ABCC6	ORPHA:758
HP:0011355	Localized skin lesion	7042	TGFB2	OMIM:614816
HP:0011355	Localized skin lesion	1303	COL12A1	ORPHA:610
HP:0011355	Localized skin lesion	1291	COL6A1	ORPHA:610
HP:0011355	Localized skin lesion	1292	COL6A2	ORPHA:610
HP:0011355	Localized skin lesion	1293	COL6A3	ORPHA:610
HP:0011355	Localized skin lesion	113189	CHST14	OMIM:601776
HP:0011355	Localized skin lesion	113189	CHST14	ORPHA:2953
HP:0011355	Localized skin lesion	55033	FKBP14	OMIM:614557
HP:0011355	Localized skin lesion	55033	FKBP14	ORPHA:300179
HP:0011355	Localized skin lesion	29940	DSE	ORPHA:2953
HP:0011355	Localized skin lesion	29940	DSE	OMIM:615539
HP:0011355	Localized skin lesion	146206	CARMIL2	OMIM:618131
HP:0011355	Localized skin lesion	667	DST	OMIM:615425
HP:0011355	Localized skin lesion	114803	MYSM1	ORPHA:508542
HP:0011355	Localized skin lesion	2717	GLA	ORPHA:324
HP:0011355	Localized skin lesion	567	B2M	OMIM:241600
HP:0011355	Localized skin lesion	83706	FERMT3	OMIM:612840
HP:0011355	Localized skin lesion	4193	MDM2	ORPHA:99971
HP:0011355	Localized skin lesion	2521	FUS	ORPHA:99967
HP:0011355	Localized skin lesion	1649	DDIT3	ORPHA:99967
HP:0011355	Localized skin lesion	90	ACVR1	ORPHA:337
HP:0011355	Localized skin lesion	2744	GLS	OMIM:618339
HP:0011355	Localized skin lesion	8367	H4C5	OMIM:619950
HP:0011355	Localized skin lesion	60529	ALX4	OMIM:613451
HP:0011355	Localized skin lesion	50814	NSDHL	OMIM:308050
HP:0011355	Localized skin lesion	998	CDC42	ORPHA:487796
HP:0011355	Localized skin lesion	998	CDC42	OMIM:616737
HP:0011355	Localized skin lesion	340665	CYP26C1	ORPHA:398189
HP:0011355	Localized skin lesion	3008	H1-4	OMIM:617537
HP:0011355	Localized skin lesion	4621	MYH3	ORPHA:2990
HP:0011355	Localized skin lesion	1146	CHRNG	ORPHA:2990
HP:0011355	Localized skin lesion	1854	DUT	OMIM:620044
HP:0011355	Localized skin lesion	1009	CDH11	OMIM:211380
HP:0011355	Localized skin lesion	55027	HEATR3	OMIM:620072
HP:0011355	Localized skin lesion	55869	HDAC8	OMIM:300882
HP:0011355	Localized skin lesion	10943	MSL3	OMIM:301032
HP:0011355	Localized skin lesion	8314	BAP1	ORPHA:618
HP:0011355	Localized skin lesion	4255	MGMT	ORPHA:618
HP:0011355	Localized skin lesion	54386	TERF2IP	ORPHA:618
HP:0011355	Localized skin lesion	65057	ACD	ORPHA:618
HP:0011355	Localized skin lesion	1029	CDKN2A	ORPHA:618
HP:0011355	Localized skin lesion	25913	POT1	ORPHA:618
HP:0011355	Localized skin lesion	23592	LEMD3	OMIM:166700
HP:0011355	Localized skin lesion	51151	SLC45A2	ORPHA:79435
HP:0011355	Localized skin lesion	2074	ERCC6	OMIM:133540
HP:0011355	Localized skin lesion	2074	ERCC6	OMIM:278800
HP:0011355	Localized skin lesion	64840	PORCN	OMIM:305600
HP:0011355	Localized skin lesion	64840	PORCN	ORPHA:2092
HP:0011355	Localized skin lesion	10269	ZMPSTE24	OMIM:608612
HP:0011355	Localized skin lesion	10269	ZMPSTE24	ORPHA:740
HP:0011355	Localized skin lesion	10269	ZMPSTE24	ORPHA:90154
HP:0011355	Localized skin lesion	10269	ZMPSTE24	ORPHA:1662
HP:0011355	Localized skin lesion	54800	KLHL24	OMIM:617294
HP:0011355	Localized skin lesion	9401	RECQL4	ORPHA:221016
HP:0011355	Localized skin lesion	9401	RECQL4	OMIM:268400
HP:0011355	Localized skin lesion	9401	RECQL4	OMIM:218600
HP:0011355	Localized skin lesion	4000	LMNA	ORPHA:740
HP:0011355	Localized skin lesion	4000	LMNA	OMIM:248370
HP:0011355	Localized skin lesion	4000	LMNA	ORPHA:90153
HP:0011355	Localized skin lesion	4000	LMNA	ORPHA:1662
HP:0011355	Localized skin lesion	1718	DHCR24	ORPHA:35107
HP:0011355	Localized skin lesion	5159	PDGFRB	OMIM:601812
HP:0011355	Localized skin lesion	4256	MGP	ORPHA:85202
HP:0011355	Localized skin lesion	54345	SOX18	ORPHA:69735
HP:0011355	Localized skin lesion	5429	POLH	OMIM:278750
HP:0011355	Localized skin lesion	5429	POLH	ORPHA:90342
HP:0011355	Localized skin lesion	10651	MTX2	ORPHA:90153
HP:0011355	Localized skin lesion	5424	POLD1	OMIM:615381
HP:0011355	Localized skin lesion	64682	ANAPC1	ORPHA:221008
HP:0011355	Localized skin lesion	6850	SYK	OMIM:619381
HP:0011355	Localized skin lesion	3098	HK1	OMIM:618547
HP:0011355	Localized skin lesion	80036	TRPM3	OMIM:620224
HP:0011355	Localized skin lesion	145258	GSC	OMIM:602471
HP:0011355	Localized skin lesion	2702	GJA5	ORPHA:3303
HP:0011355	Localized skin lesion	1482	NKX2-5	ORPHA:3303
HP:0011355	Localized skin lesion	1482	NKX2-5	OMIM:187500
HP:0011355	Localized skin lesion	137814	NKX2-6	ORPHA:3303
HP:0011355	Localized skin lesion	23414	ZFPM2	ORPHA:3303
HP:0011355	Localized skin lesion	23414	ZFPM2	OMIM:187500
HP:0011355	Localized skin lesion	2626	GATA4	ORPHA:3303
HP:0011355	Localized skin lesion	2626	GATA4	OMIM:187500
HP:0011355	Localized skin lesion	3791	KDR	ORPHA:3303
HP:0011355	Localized skin lesion	2627	GATA6	ORPHA:3303
HP:0011355	Localized skin lesion	2627	GATA6	OMIM:187500
HP:0011355	Localized skin lesion	2657	GDF1	ORPHA:3303
HP:0011355	Localized skin lesion	182	JAG1	ORPHA:3303
HP:0011355	Localized skin lesion	182	JAG1	OMIM:187500
HP:0011355	Localized skin lesion	140628	GATA5	ORPHA:3303
HP:0011355	Localized skin lesion	2324	FLT4	ORPHA:3303
HP:0011355	Localized skin lesion	10370	CITED2	ORPHA:3303
HP:0011355	Localized skin lesion	27031	NPHP3	OMIM:208540
HP:0011355	Localized skin lesion	5075	PAX1	OMIM:615560
HP:0011355	Localized skin lesion	5075	PAX1	ORPHA:2792
HP:0011355	Localized skin lesion	7994	KAT6A	ORPHA:457193
HP:0011355	Localized skin lesion	3759	KCNJ2	OMIM:170390
HP:0011355	Localized skin lesion	9451	EIF2AK3	OMIM:226980
HP:0011355	Localized skin lesion	4281	MID1	ORPHA:2745
HP:0011355	Localized skin lesion	58499	ZNF462	OMIM:618619
HP:0011355	Localized skin lesion	55784	MCTP2	ORPHA:1596
HP:0011355	Localized skin lesion	126695	KDF1	OMIM:617337
HP:0011355	Localized skin lesion	387	RHOA	OMIM:618727
HP:0011355	Localized skin lesion	9076	CLDN1	ORPHA:59303
HP:0011355	Localized skin lesion	7390	UROS	ORPHA:79277
HP:0011355	Localized skin lesion	2623	GATA1	ORPHA:79277
HP:0011355	Localized skin lesion	7389	UROD	ORPHA:95159
HP:0011355	Localized skin lesion	10682	EBP	ORPHA:401973
HP:0011355	Localized skin lesion	10682	EBP	OMIM:300960
HP:0011355	Localized skin lesion	7319	UBE2A	OMIM:300860
HP:0011355	Localized skin lesion	641	BLM	OMIM:210900
HP:0011355	Localized skin lesion	9419	CRIPT	OMIM:615789
HP:0011355	Localized skin lesion	10060	ABCC9	OMIM:619719
HP:0011355	Localized skin lesion	54463	RETREG1	OMIM:201300
HP:0011355	Localized skin lesion	54463	RETREG1	OMIM:613115
HP:0011355	Localized skin lesion	65125	WNK1	OMIM:201300
HP:0011355	Localized skin lesion	6335	SCN9A	OMIM:201300
HP:0011355	Localized skin lesion	547	KIF1A	OMIM:201300
HP:0011355	Localized skin lesion	547	KIF1A	OMIM:614213
HP:0011355	Localized skin lesion	4358	MPV17	OMIM:256810
HP:0011355	Localized skin lesion	4803	NGF	OMIM:608654
HP:0011355	Localized skin lesion	9790	BMS1	ORPHA:1114
HP:0011355	Localized skin lesion	10054	UBA2	ORPHA:1114
HP:0011355	Localized skin lesion	79796	ALG9	ORPHA:79328
HP:0011355	Localized skin lesion	197131	UBR1	OMIM:243800
HP:0011355	Localized skin lesion	10815	CPLX1	ORPHA:280
HP:0011355	Localized skin lesion	10815	CPLX1	OMIM:194190
HP:0011355	Localized skin lesion	54872	PIGG	ORPHA:280
HP:0011355	Localized skin lesion	7469	NELFA	ORPHA:280
HP:0011355	Localized skin lesion	1487	CTBP1	ORPHA:280
HP:0011355	Localized skin lesion	1487	CTBP1	OMIM:194190
HP:0011355	Localized skin lesion	3954	LETM1	ORPHA:280
HP:0011355	Localized skin lesion	3954	LETM1	OMIM:194190
HP:0011355	Localized skin lesion	7468	NSD2	ORPHA:280
HP:0011355	Localized skin lesion	7468	NSD2	OMIM:194190
HP:0011355	Localized skin lesion	53834	FGFRL1	OMIM:194190
HP:0011355	Localized skin lesion	1896	EDA	OMIM:305100
HP:0011355	Localized skin lesion	55252	ASXL2	OMIM:617190
HP:0011355	Localized skin lesion	81857	MED25	ORPHA:464738
HP:0011355	Localized skin lesion	81857	MED25	OMIM:616449
HP:0011355	Localized skin lesion	3930	LBR	OMIM:618019
HP:0011355	Localized skin lesion	118924	FRA10AC1	OMIM:620113
HP:0011355	Localized skin lesion	9939	RBM8A	ORPHA:3320
HP:0011355	Localized skin lesion	9939	RBM8A	OMIM:274000
HP:0011355	Localized skin lesion	5354	PLP1	ORPHA:280229
HP:0011355	Localized skin lesion	8621	CDK13	OMIM:617360
HP:0011355	Localized skin lesion	8558	CDK10	OMIM:617694
HP:0011355	Localized skin lesion	2783	GNB2	OMIM:619503
HP:0011355	Localized skin lesion	6418	SET	OMIM:618106
HP:0011355	Localized skin lesion	5932	RBBP8	OMIM:606744
HP:0011355	Localized skin lesion	3939	LDHA	ORPHA:284426
HP:0011355	Localized skin lesion	64127	NOD2	OMIM:186580
HP:0011355	Localized skin lesion	23556	PIGN	ORPHA:280633
HP:0011355	Localized skin lesion	103	ADAR	OMIM:127400
HP:0011355	Localized skin lesion	23328	SASH1	OMIM:127500
HP:0011355	Localized skin lesion	4221	MEN1	ORPHA:652
HP:0011355	Localized skin lesion	4221	MEN1	OMIM:131100
HP:0011355	Localized skin lesion	1027	CDKN1B	ORPHA:652
HP:0011355	Localized skin lesion	1027	CDKN1B	ORPHA:276152
HP:0011355	Localized skin lesion	1026	CDKN1A	ORPHA:652
HP:0011355	Localized skin lesion	1030	CDKN2B	ORPHA:652
HP:0011355	Localized skin lesion	1031	CDKN2C	ORPHA:652
HP:0011355	Localized skin lesion	4841	NONO	ORPHA:466791
HP:0011355	Localized skin lesion	3458	IFNG	ORPHA:805
HP:0011355	Localized skin lesion	7248	TSC1	ORPHA:805
HP:0011355	Localized skin lesion	7249	TSC2	ORPHA:805
HP:0011355	Localized skin lesion	55699	IARS2	ORPHA:436174
HP:0011355	Localized skin lesion	4948	OCA2	ORPHA:79432
HP:0011355	Localized skin lesion	2934	GSN	ORPHA:85448
HP:0011355	Localized skin lesion	4763	NF1	OMIM:601321
HP:0011355	Localized skin lesion	4763	NF1	OMIM:162200
HP:0011355	Localized skin lesion	4763	NF1	OMIM:193520
HP:0011355	Localized skin lesion	4763	NF1	ORPHA:638
HP:0011355	Localized skin lesion	4763	NF1	ORPHA:97685
HP:0011355	Localized skin lesion	4436	MSH2	OMIM:619096
HP:0011355	Localized skin lesion	2956	MSH6	OMIM:619097
HP:0011355	Localized skin lesion	5980	REV3L	ORPHA:570
HP:0011355	Localized skin lesion	23129	PLXND1	ORPHA:570
HP:0011355	Localized skin lesion	11253	MAN1B1	ORPHA:397941
HP:0011355	Localized skin lesion	8242	KDM5C	ORPHA:85279
HP:0011355	Localized skin lesion	5604	MAP2K1	ORPHA:1340
HP:0011355	Localized skin lesion	5605	MAP2K2	ORPHA:1340
HP:0011355	Localized skin lesion	5605	MAP2K2	ORPHA:638
HP:0011355	Localized skin lesion	4292	MLH1	OMIM:276300
HP:0011355	Localized skin lesion	472	ATM	ORPHA:100
HP:0011355	Localized skin lesion	8626	TP63	ORPHA:69085
HP:0011355	Localized skin lesion	9184	BUB3	ORPHA:1052
HP:0011355	Localized skin lesion	699	BUB1	ORPHA:1052
HP:0011355	Localized skin lesion	9702	CEP57	ORPHA:1052
HP:0011355	Localized skin lesion	9319	TRIP13	ORPHA:1052
HP:0011355	Localized skin lesion	701	BUB1B	ORPHA:1052
HP:0011355	Localized skin lesion	5395	PMS2	OMIM:619101
HP:0011355	Localized skin lesion	473	RERE	OMIM:616975
HP:0011355	Localized skin lesion	161742	SPRED1	ORPHA:137605
HP:0011355	Localized skin lesion	5573	PRKAR1A	ORPHA:1359
HP:0011355	Localized skin lesion	50940	PDE11A	ORPHA:1359
HP:0011355	Localized skin lesion	2767	GNA11	ORPHA:1556
HP:0011355	Localized skin lesion	151188	ARL6IP6	ORPHA:1556
HP:0011355	Localized skin lesion	9791	PTDSS1	ORPHA:2658
HP:0011355	Localized skin lesion	10312	TCIRG1	ORPHA:1782
HP:0011355	Localized skin lesion	55315	SLC29A3	ORPHA:1782
HP:0011355	Localized skin lesion	7486	WRN	ORPHA:902
HP:0011355	Localized skin lesion	5627	PROS1	ORPHA:743
HP:0011355	Localized skin lesion	5624	PROC	ORPHA:745
HP:0011355	Localized skin lesion	10654	PMVK	ORPHA:735
HP:0011355	Localized skin lesion	134218	DNAJC21	OMIM:617052
HP:0011355	Localized skin lesion	29957	SLC25A24	ORPHA:2963
HP:0011355	Localized skin lesion	538	ATP7A	ORPHA:198
HP:0011355	Localized skin lesion	1387	CREBBP	ORPHA:353281
HP:0011355	Localized skin lesion	1387	CREBBP	OMIM:180849
HP:0011355	Localized skin lesion	1387	CREBBP	ORPHA:353277
HP:0011355	Localized skin lesion	4854	NOTCH3	OMIM:130720
HP:0011355	Localized skin lesion	2033	EP300	OMIM:180849
HP:0011355	Localized skin lesion	2033	EP300	ORPHA:353284
HP:0011355	Localized skin lesion	6885	MAP3K7	OMIM:617137
HP:0011355	Localized skin lesion	6885	MAP3K7	ORPHA:1826
HP:0011355	Localized skin lesion	324	APC	OMIM:175100
HP:0011355	Localized skin lesion	324	APC	ORPHA:79665
HP:0011355	Localized skin lesion	2316	FLNA	ORPHA:1826
HP:0011355	Localized skin lesion	4952	OCRL	OMIM:309000
HP:0011355	Localized skin lesion	201163	FLCN	ORPHA:122
HP:0011355	Localized skin lesion	5728	PTEN	OMIM:158350
HP:0011355	Localized skin lesion	286053	NSMCE2	OMIM:617253
HP:0011355	Localized skin lesion	2261	FGFR3	OMIM:616482
HP:0011355	Localized skin lesion	54101	RIPK4	OMIM:263650
HP:0011355	Localized skin lesion	2263	FGFR2	OMIM:123790
HP:0011355	Localized skin lesion	207	AKT1	OMIM:615109
HP:0011355	Localized skin lesion	84168	ANTXR1	ORPHA:2067
HP:0011355	Localized skin lesion	9968	MED12	OMIM:305450
HP:0011355	Localized skin lesion	2248	FGF3	ORPHA:90024
HP:0011355	Localized skin lesion	2248	FGF3	OMIM:610706
HP:0011355	Localized skin lesion	129563	DIS3L2	ORPHA:2849
HP:0011355	Localized skin lesion	1798	DPAGT1	ORPHA:86309
HP:0011355	Localized skin lesion	1798	DPAGT1	OMIM:608093
HP:0011355	Localized skin lesion	55681	SCYL2	ORPHA:1143
HP:0011355	Localized skin lesion	84570	COL25A1	ORPHA:1143
HP:0011355	Localized skin lesion	57222	ERGIC1	ORPHA:1143
HP:0011355	Localized skin lesion	471	ATIC	OMIM:608688
HP:0011355	Localized skin lesion	2887	GRB10	ORPHA:96182
HP:0011355	Localized skin lesion	336	APOA2	OMIM:143890
HP:0011355	Localized skin lesion	2053	EPHX2	OMIM:143890
HP:0011355	Localized skin lesion	10842	PPP1R17	OMIM:143890
HP:0011355	Localized skin lesion	2690	GHR	OMIM:143890
HP:0011355	Localized skin lesion	1071	CETP	ORPHA:79506
HP:0011355	Localized skin lesion	345	APOC3	ORPHA:79506
HP:0011355	Localized skin lesion	7274	TTPA	OMIM:277460
HP:0011355	Localized skin lesion	348	APOE	ORPHA:412
HP:0011355	Localized skin lesion	4323	MMP14	ORPHA:371428
HP:0011355	Localized skin lesion	9630	GNA14	ORPHA:1063
HP:0011355	Localized skin lesion	3423	IDS	ORPHA:217085
HP:0011355	Localized skin lesion	3423	IDS	ORPHA:217093
HP:0011355	Localized skin lesion	374969	SVBP	OMIM:618569
HP:0011355	Localized skin lesion	7373	COL14A1	ORPHA:79501
HP:0011355	Localized skin lesion	79719	AAGAB	ORPHA:79501
HP:0011355	Localized skin lesion	3119	HLA-DQB1	ORPHA:703
HP:0011355	Localized skin lesion	5590	PRKCZ	ORPHA:1606
HP:0011355	Localized skin lesion	2563	GABRD	ORPHA:1606
HP:0011355	Localized skin lesion	8510	MMP23B	ORPHA:1606
HP:0011355	Localized skin lesion	7798	LUZP1	ORPHA:1606
HP:0011355	Localized skin lesion	6497	SKI	ORPHA:1606
HP:0011355	Localized skin lesion	10630	PDPN	ORPHA:1606
HP:0011355	Localized skin lesion	3339	HSPG2	ORPHA:1606
HP:0011355	Localized skin lesion	10277	UBE4B	ORPHA:1606
HP:0011355	Localized skin lesion	8514	KCNAB2	ORPHA:1606
HP:0011355	Localized skin lesion	63976	PRDM16	ORPHA:1606
HP:0011355	Localized skin lesion	54897	CASZ1	ORPHA:1606
HP:0011355	Localized skin lesion	2050	EPHB4	ORPHA:137667
HP:0011355	Localized skin lesion	5921	RASA1	ORPHA:137667
HP:0011355	Localized skin lesion	50485	SMARCAL1	OMIM:242900
HP:0011355	Localized skin lesion	7132	TNFRSF1A	ORPHA:32960
HP:0011355	Localized skin lesion	6785	ELOVL4	ORPHA:1955
HP:0011355	Localized skin lesion	1536	CYBB	ORPHA:379
HP:0011355	Localized skin lesion	4688	NCF2	ORPHA:379
HP:0011355	Localized skin lesion	1535	CYBA	ORPHA:379
HP:0011355	Localized skin lesion	4689	NCF4	ORPHA:379
HP:0011355	Localized skin lesion	79415	CYBC1	ORPHA:379
HP:0011355	Localized skin lesion	3106	HLA-B	ORPHA:36426
HP:0011355	Localized skin lesion	10320	IKZF1	ORPHA:36426
HP:0011355	Localized skin lesion	102	ADAM10	OMIM:615537
HP:0011355	Localized skin lesion	9333	TGM5	ORPHA:263534
HP:0011355	Localized skin lesion	1475	CSTA	ORPHA:263534
HP:0011355	Localized skin lesion	2697	GJA1	ORPHA:317
HP:0011355	Localized skin lesion	2707	GJB3	ORPHA:317
HP:0011355	Localized skin lesion	2531	KDSR	ORPHA:317
HP:0011355	Localized skin lesion	127534	GJB4	ORPHA:317
HP:0011355	Localized skin lesion	23384	SPECC1L	OMIM:145420
HP:0011355	Localized skin lesion	2778	GNAS	OMIM:166350
HP:0011355	Localized skin lesion	2778	GNAS	ORPHA:79443
HP:0011355	Localized skin lesion	2778	GNAS	ORPHA:79444
HP:0011355	Localized skin lesion	2778	GNAS	ORPHA:79445
HP:0011355	Localized skin lesion	440275	EIF2AK4	ORPHA:199241
HP:0011355	Localized skin lesion	10617	STAMBP	OMIM:614261
HP:0011355	Localized skin lesion	8260	NAA10	ORPHA:276432
HP:0011355	Localized skin lesion	8260	NAA10	OMIM:300855
HP:0011355	Localized skin lesion	81839	VANGL1	OMIM:600145
HP:0011355	Localized skin lesion	257	ALX3	ORPHA:391474
HP:0011355	Localized skin lesion	4488	MSX2	OMIM:168550
HP:0011355	Localized skin lesion	57688	ZSWIM6	ORPHA:1827
HP:0011355	Localized skin lesion	6857	SYT1	ORPHA:522077
HP:0011355	Localized skin lesion	3868	KRT16	ORPHA:2309
HP:0011355	Localized skin lesion	3872	KRT17	ORPHA:2309
HP:0011355	Localized skin lesion	3853	KRT6A	ORPHA:2309
HP:0011355	Localized skin lesion	3854	KRT6B	ORPHA:2309
HP:0011355	Localized skin lesion	4035	LRP1	OMIM:604093
HP:0011355	Localized skin lesion	10161	LPAR6	OMIM:278150
HP:0011355	Localized skin lesion	200879	LIPH	OMIM:604379
HP:0011355	Localized skin lesion	1991	ELANE	ORPHA:486
HP:0011355	Localized skin lesion	2672	GFI1	ORPHA:486
HP:0011355	Localized skin lesion	6729	SRP54	ORPHA:486
HP:0011355	Localized skin lesion	81570	CLPB	ORPHA:486
HP:0011355	Localized skin lesion	9051	PSTPIP1	OMIM:604416
HP:0011355	Localized skin lesion	4790	NFKB1	OMIM:616576
HP:0011355	Localized skin lesion	90268	OTULIN	OMIM:619986
HP:0011355	Localized skin lesion	9948	WDR1	OMIM:150550
HP:0011355	Localized skin lesion	3858	KRT10	OMIM:607602
HP:0011355	Localized skin lesion	9526	MPDU1	ORPHA:79323
HP:0011355	Localized skin lesion	1280	COL2A1	ORPHA:485
HP:0011355	Localized skin lesion	5580	PRKCD	OMIM:615559
HP:0011355	Localized skin lesion	64131	XYLT1	OMIM:264800
HP:0011355	Localized skin lesion	64132	XYLT2	OMIM:264800
HP:0011355	Localized skin lesion	51371	POMP	OMIM:618048
HP:0011355	Localized skin lesion	84868	HAVCR2	ORPHA:86884
HP:0011355	Localized skin lesion	64421	DCLRE1C	OMIM:602450
HP:0011355	Localized skin lesion	51816	ADA2	OMIM:615688
HP:0011355	Localized skin lesion	162514	TRPV3	ORPHA:659
HP:0011355	Localized skin lesion	64065	PERP	ORPHA:659
HP:0011355	Localized skin lesion	165	AEBP1	ORPHA:536532
HP:0011355	Localized skin lesion	1593	CYP27A1	OMIM:213700
HP:0011355	Localized skin lesion	64241	ABCG8	OMIM:210250
HP:0011355	Localized skin lesion	64788	LMF1	OMIM:246650
HP:0011355	Localized skin lesion	57152	SLURP1	ORPHA:87503
HP:0011355	Localized skin lesion	6662	SOX9	OMIM:114290
HP:0011355	Localized skin lesion	10982	MAPRE2	OMIM:616734
HP:0011355	Localized skin lesion	203068	TUBB	OMIM:156610
HP:0011355	Localized skin lesion	3848	KRT1	OMIM:146590
HP:0011355	Localized skin lesion	57822	GRHL3	OMIM:606713
HP:0011355	Localized skin lesion	57822	GRHL3	ORPHA:888
HP:0011355	Localized skin lesion	3664	IRF6	ORPHA:1300
HP:0011355	Localized skin lesion	3664	IRF6	ORPHA:141291
HP:0011355	Localized skin lesion	3664	IRF6	ORPHA:888
HP:0011355	Localized skin lesion	4487	MSX1	ORPHA:141291
HP:0011355	Localized skin lesion	5818	NECTIN1	ORPHA:141291
HP:0011355	Localized skin lesion	8085	KMT2D	ORPHA:2322
HP:0011355	Localized skin lesion	7403	KDM6A	ORPHA:2322
HP:0011355	Localized skin lesion	2138	EYA1	ORPHA:52429
HP:0011355	Localized skin lesion	6495	SIX1	ORPHA:52429
HP:0011355	Localized skin lesion	1906	EDN1	ORPHA:137888
HP:0011355	Localized skin lesion	5332	PLCB4	ORPHA:137888
HP:0011355	Localized skin lesion	2773	GNAI3	ORPHA:137888
HP:0011355	Localized skin lesion	26053	AUTS2	ORPHA:352490
HP:0011355	Localized skin lesion	815	CAMK2A	OMIM:617798
HP:0011355	Localized skin lesion	3074	HEXB	ORPHA:309155
HP:0011355	Localized skin lesion	55617	TASP1	OMIM:618950
HP:0011355	Localized skin lesion	7306	TYRP1	ORPHA:79433
HP:0011355	Localized skin lesion	83480	PUS3	ORPHA:488627
HP:0011355	Localized skin lesion	54914	FOCAD	OMIM:619991
HP:0011355	Localized skin lesion	22861	NLRP1	OMIM:618803
HP:0011355	Localized skin lesion	488	ATP2A2	OMIM:101900
HP:0011355	Localized skin lesion	488	ATP2A2	ORPHA:218
HP:0011355	Localized skin lesion	488	ATP2A2	OMIM:124200
HP:0011355	Localized skin lesion	84946	LTV1	OMIM:620199
HP:0011355	Localized skin lesion	2677	GGCX	ORPHA:436274
HP:0011355	Localized skin lesion	2677	GGCX	ORPHA:91135
HP:0011355	Localized skin lesion	3115	HLA-DPB1	ORPHA:900
HP:0011355	Localized skin lesion	5657	PRTN3	ORPHA:900
HP:0011355	Localized skin lesion	3113	HLA-DPA1	ORPHA:900
HP:0011355	Localized skin lesion	5184	PEPD	ORPHA:742
HP:0011355	Localized skin lesion	79092	CARD14	ORPHA:2897
HP:0011355	Localized skin lesion	362	AQP5	ORPHA:2337
HP:0011355	Localized skin lesion	4598	MVK	ORPHA:343
HP:0011355	Localized skin lesion	9663	LPIN2	ORPHA:77297
HP:0011355	Localized skin lesion	51360	MBTPS2	ORPHA:2273
HP:0011355	Localized skin lesion	63910	SLC17A9	OMIM:616063
HP:0011355	Localized skin lesion	1956	EGFR	OMIM:616069
HP:0011355	Localized skin lesion	4668	NAGA	ORPHA:79280
HP:0011355	Localized skin lesion	118429	ANTXR2	ORPHA:2028
HP:0011355	Localized skin lesion	84818	IL17RC	ORPHA:1334
HP:0011355	Localized skin lesion	64581	CLEC7A	ORPHA:1334
HP:0011355	Localized skin lesion	23765	IL17RA	ORPHA:1334
HP:0011355	Localized skin lesion	10758	TRAF3IP2	ORPHA:1334
HP:0011355	Localized skin lesion	112744	IL17F	ORPHA:1334
HP:0011355	Localized skin lesion	114548	NLRP3	ORPHA:1451
HP:0011355	Localized skin lesion	5277	PIGA	OMIM:301072
HP:0011355	Localized skin lesion	149233	IL23R	ORPHA:117
HP:0011355	Localized skin lesion	6775	STAT4	ORPHA:117
HP:0011355	Localized skin lesion	3586	IL10	ORPHA:117
HP:0011355	Localized skin lesion	1230	CCR1	ORPHA:117
HP:0011355	Localized skin lesion	3592	IL12A	ORPHA:117
HP:0011355	Localized skin lesion	101928376	IL12A-AS1	ORPHA:117
HP:0011355	Localized skin lesion	7099	TLR4	ORPHA:117
HP:0011355	Localized skin lesion	3459	IFNGR1	ORPHA:117
HP:0011355	Localized skin lesion	720	C4A	ORPHA:117
HP:0011355	Localized skin lesion	337867	UBAC2	ORPHA:117
HP:0011355	Localized skin lesion	51752	ERAP1	ORPHA:117
HP:0011355	Localized skin lesion	8302	KLRC4	ORPHA:117
HP:0011355	Localized skin lesion	1080	CFTR	ORPHA:498359
HP:0011355	Localized skin lesion	7317	UBA1	OMIM:301054
HP:0011355	Localized skin lesion	1893	ECM1	OMIM:247100
HP:0011355	Localized skin lesion	5696	PSMB8	OMIM:256040
HP:0011355	Localized skin lesion	54795	TRPM4	ORPHA:316
HP:0011355	Localized skin lesion	4014	LORICRIN	ORPHA:316
HP:0011355	Localized skin lesion	3889	KRT83	ORPHA:316
HP:0011355	Localized skin lesion	3417	IDH1	ORPHA:99646
HP:0011355	Localized skin lesion	10804	GJB6	ORPHA:477
HP:0011355	Localized skin lesion	2706	GJB2	ORPHA:477
HP:0011355	Localized skin lesion	427	ASAH1	ORPHA:2590
HP:0011355	Localized skin lesion	11146	GLMN	ORPHA:83454
HP:0011355	Localized skin lesion	596	BCL2	ORPHA:545
HP:0011355	Localized skin lesion	3492	IGH	ORPHA:545
HP:0011355	Localized skin lesion	604	BCL6	ORPHA:545
HP:0011355	Localized skin lesion	23095	KIF1B	OMIM:256700
HP:0011355	Localized skin lesion	56244	BTNL2	ORPHA:797
HP:0011355	Localized skin lesion	6774	STAT3	ORPHA:2314
HP:0011355	Localized skin lesion	1825	DSC3	OMIM:613102
HP:0011355	Localized skin lesion	4210	MEFV	ORPHA:3243
HP:0011355	Localized skin lesion	56983	POGLUT1	ORPHA:79145
HP:0011355	Localized skin lesion	23509	POFUT1	ORPHA:79145
HP:0011355	Localized skin lesion	55851	PSENEN	ORPHA:79145
HP:0011355	Localized skin lesion	27032	ATP2C1	ORPHA:2841
HP:0011355	Localized skin lesion	55343	SLC35C1	ORPHA:99843
HP:0011355	Localized skin lesion	1500	CTNND1	ORPHA:1997
HP:0011355	Localized skin lesion	999	CDH1	ORPHA:1997
HP:0011355	Localized skin lesion	128240	NAXE	OMIM:617186
HP:0011355	Localized skin lesion	8974	P4HA2	ORPHA:397
HP:0011355	Localized skin lesion	3689	ITGB2	OMIM:116920
HP:0011355	Localized skin lesion	5238	PGM3	ORPHA:443811
HP:0011355	Localized skin lesion	6890	TAP1	OMIM:604571
HP:0011355	Localized skin lesion	6891	TAP2	OMIM:604571
HP:0011355	Localized skin lesion	6892	TAPBP	OMIM:604571
HP:0011355	Localized skin lesion	2038	EPB42	ORPHA:822
HP:0011355	Localized skin lesion	6521	SLC4A1	ORPHA:822
HP:0011355	Localized skin lesion	6710	SPTB	ORPHA:822
HP:0011355	Localized skin lesion	6708	SPTA1	ORPHA:822
HP:0011355	Localized skin lesion	55630	SLC39A4	ORPHA:37
HP:0011355	Localized skin lesion	5155	PDGFB	ORPHA:31112
HP:0011355	Localized skin lesion	5745	PTH1R	ORPHA:296
HP:0011355	Localized skin lesion	3418	IDH2	ORPHA:296
HP:0011355	Localized skin lesion	2632	GBE1	ORPHA:206583
HP:0011355	Localized skin lesion	4853	NOTCH2	ORPHA:955
HP:0011355	Localized skin lesion	9487	PIGL	ORPHA:3474
HP:0011355	Localized skin lesion	3043	HBB	ORPHA:231214
HP:0011355	Localized skin lesion	3043	HBB	ORPHA:231222
HP:0011355	Localized skin lesion	3043	HBB	ORPHA:231226
HP:0011355	Localized skin lesion	22948	CCT5	ORPHA:139578
HP:0011355	Localized skin lesion	7454	WAS	ORPHA:906
HP:0011355	Localized skin lesion	7456	WIPF1	ORPHA:906
HP:0011355	Localized skin lesion	1130	LYST	ORPHA:352723
HP:0011355	Localized skin lesion	3832	KIF11	ORPHA:2526
HP:0011355	Localized skin lesion	2629	GBA1	ORPHA:2072
HP:0011355	Localized skin lesion	3593	IL12B	ORPHA:3287
HP:0011355	Localized skin lesion	6945	MLX	ORPHA:3287
HP:0011355	Localized skin lesion	11277	TREX1	OMIM:610448
HP:0011355	Localized skin lesion	204	AK2	ORPHA:33355
HP:0011355	Localized skin lesion	81704	DOCK8	ORPHA:217390
HP:0011359	Dry hair	2074	ERCC6	OMIM:133540
HP:0011359	Dry hair	2074	ERCC6	ORPHA:90324
HP:0011359	Dry hair	79158	GNPTAB	ORPHA:576
HP:0011359	Dry hair	6595	SMARCA2	OMIM:601358
HP:0011359	Dry hair	57492	ARID1B	OMIM:135900
HP:0011359	Dry hair	617	BCS1L	OMIM:262000
HP:0011359	Dry hair	54914	FOCAD	OMIM:619991
HP:0011359	Dry hair	6144	RPL21	OMIM:615885
HP:0011359	Dry hair	1161	ERCC8	ORPHA:90324
HP:0011359	Dry hair	1161	ERCC8	OMIM:216400
HP:0011359	Dry hair	51702	PADI3	OMIM:191480
HP:0011359	Dry hair	121391	KRT74	OMIM:194300
HP:0011359	Dry hair	8481	OFD1	OMIM:311200
HP:0011359	Dry hair	435	ASL	OMIM:207900
HP:0011359	Dry hair	10161	LPAR6	OMIM:278150
HP:0011359	Dry hair	374969	SVBP	OMIM:618569
HP:0011359	Dry hair	10084	PQBP1	ORPHA:93947
HP:0011359	Dry hair	3872	KRT17	OMIM:167210
HP:0011359	Dry hair	2697	GJA1	OMIM:164200
HP:0011359	Dry hair	80326	WNT10A	OMIM:257980
HP:0011354	Generalized abnormality of skin	3930	LBR	OMIM:613471
HP:0011354	Generalized abnormality of skin	2658	GDF2	ORPHA:774
HP:0011354	Generalized abnormality of skin	4089	SMAD4	ORPHA:774
HP:0011354	Generalized abnormality of skin	3978	LIG1	OMIM:619774
HP:0011354	Generalized abnormality of skin	23328	SASH1	OMIM:618373
HP:0011354	Generalized abnormality of skin	4683	NBN	OMIM:251260
HP:0011354	Generalized abnormality of skin	5648	MASP1	OMIM:257920
HP:0011354	Generalized abnormality of skin	472	ATM	OMIM:208900
HP:0011354	Generalized abnormality of skin	23064	SETX	OMIM:606002
HP:0011354	Generalized abnormality of skin	5190	PEX6	ORPHA:95433
HP:0011354	Generalized abnormality of skin	165918	RNF168	ORPHA:420741
HP:0011354	Generalized abnormality of skin	5111	PCNA	OMIM:615919
HP:0011354	Generalized abnormality of skin	5476	CTSA	OMIM:256540
HP:0011354	Generalized abnormality of skin	2717	GLA	ORPHA:324
HP:0011354	Generalized abnormality of skin	2068	ERCC2	ORPHA:910
HP:0011354	Generalized abnormality of skin	7507	XPA	ORPHA:910
HP:0011354	Generalized abnormality of skin	2071	ERCC3	ORPHA:910
HP:0011354	Generalized abnormality of skin	7508	XPC	ORPHA:910
HP:0011354	Generalized abnormality of skin	1643	DDB2	ORPHA:910
HP:0011354	Generalized abnormality of skin	2072	ERCC4	ORPHA:910
HP:0011354	Generalized abnormality of skin	2073	ERCC5	ORPHA:910
HP:0011354	Generalized abnormality of skin	2776	GNAQ	ORPHA:3205
HP:0011354	Generalized abnormality of skin	1009	CDH11	ORPHA:1299
HP:0011354	Generalized abnormality of skin	1896	EDA	OMIM:305100
HP:0011354	Generalized abnormality of skin	3561	IL2RG	ORPHA:276
HP:0011354	Generalized abnormality of skin	3376	IARS1	OMIM:617093
HP:0011354	Generalized abnormality of skin	229	ALDOB	OMIM:229600
HP:0011354	Generalized abnormality of skin	229	ALDOB	ORPHA:469
HP:0011354	Generalized abnormality of skin	55532	SLC30A10	ORPHA:309854
HP:0011354	Generalized abnormality of skin	3048	HBG2	OMIM:613977
HP:0011354	Generalized abnormality of skin	5830	PEX5	OMIM:214110
HP:0011354	Generalized abnormality of skin	5830	PEX5	ORPHA:912
HP:0011354	Generalized abnormality of skin	80270	HSD3B7	ORPHA:79301
HP:0011354	Generalized abnormality of skin	80270	HSD3B7	OMIM:607765
HP:0011354	Generalized abnormality of skin	5314	PKHD1	ORPHA:53035
HP:0011354	Generalized abnormality of skin	5314	PKHD1	ORPHA:731
HP:0011354	Generalized abnormality of skin	9420	CYP7B1	ORPHA:79302
HP:0011354	Generalized abnormality of skin	9420	CYP7B1	OMIM:613812
HP:0011354	Generalized abnormality of skin	2038	EPB42	ORPHA:822
HP:0011354	Generalized abnormality of skin	2038	EPB42	OMIM:612690
HP:0011354	Generalized abnormality of skin	286	ANK1	ORPHA:822
HP:0011354	Generalized abnormality of skin	286	ANK1	OMIM:182900
HP:0011354	Generalized abnormality of skin	84936	ZFYVE19	OMIM:619849
HP:0011354	Generalized abnormality of skin	55687	TRMU	OMIM:613070
HP:0011354	Generalized abnormality of skin	3043	HBB	OMIM:603903
HP:0011354	Generalized abnormality of skin	3043	HBB	ORPHA:231214
HP:0011354	Generalized abnormality of skin	3043	HBB	ORPHA:231222
HP:0011354	Generalized abnormality of skin	3043	HBB	ORPHA:231226
HP:0011354	Generalized abnormality of skin	60561	RINT1	OMIM:618641
HP:0011354	Generalized abnormality of skin	2859	GPR35	ORPHA:171
HP:0011354	Generalized abnormality of skin	10507	SEMA4D	ORPHA:171
HP:0011354	Generalized abnormality of skin	4485	MST1	ORPHA:171
HP:0011354	Generalized abnormality of skin	11232	POLG2	OMIM:618528
HP:0011354	Generalized abnormality of skin	8942	KYNU	OMIM:236800
HP:0011354	Generalized abnormality of skin	1716	DGUOK	OMIM:251880
HP:0011354	Generalized abnormality of skin	5244	ABCB4	OMIM:614972
HP:0011354	Generalized abnormality of skin	5244	ABCB4	OMIM:602347
HP:0011354	Generalized abnormality of skin	5244	ABCB4	ORPHA:69665
HP:0011354	Generalized abnormality of skin	5244	ABCB4	OMIM:600803
HP:0011354	Generalized abnormality of skin	63894	VIPAS39	OMIM:613404
HP:0011354	Generalized abnormality of skin	4645	MYO5B	OMIM:619868
HP:0011354	Generalized abnormality of skin	2313	FLI1	ORPHA:370348
HP:0011354	Generalized abnormality of skin	1244	ABCC2	ORPHA:234
HP:0011354	Generalized abnormality of skin	1244	ABCC2	OMIM:237500
HP:0011354	Generalized abnormality of skin	51594	NBAS	OMIM:616483
HP:0011354	Generalized abnormality of skin	5311	PKD2	OMIM:613095
HP:0011354	Generalized abnormality of skin	54914	FOCAD	OMIM:619991
HP:0011354	Generalized abnormality of skin	10068	IL18BP	OMIM:618549
HP:0011354	Generalized abnormality of skin	5828	PEX2	OMIM:614866
HP:0011354	Generalized abnormality of skin	5828	PEX2	ORPHA:912
HP:0011354	Generalized abnormality of skin	5265	SERPINA1	ORPHA:60
HP:0011354	Generalized abnormality of skin	5428	POLG	OMIM:203700
HP:0011354	Generalized abnormality of skin	9971	NR1H4	ORPHA:69665
HP:0011354	Generalized abnormality of skin	9971	NR1H4	OMIM:617049
HP:0011354	Generalized abnormality of skin	55670	PEX26	OMIM:614872
HP:0011354	Generalized abnormality of skin	55670	PEX26	ORPHA:912
HP:0011354	Generalized abnormality of skin	10165	SLC25A13	ORPHA:247598
HP:0011354	Generalized abnormality of skin	9409	PEX16	OMIM:614876
HP:0011354	Generalized abnormality of skin	9409	PEX16	ORPHA:912
HP:0011354	Generalized abnormality of skin	2729	GCLC	ORPHA:33574
HP:0011354	Generalized abnormality of skin	11330	CTRC	ORPHA:103918
HP:0011354	Generalized abnormality of skin	11330	CTRC	ORPHA:676
HP:0011354	Generalized abnormality of skin	6690	SPINK1	ORPHA:103918
HP:0011354	Generalized abnormality of skin	6690	SPINK1	ORPHA:676
HP:0011354	Generalized abnormality of skin	9652	SKIC3	OMIM:222470
HP:0011354	Generalized abnormality of skin	5213	PFKM	OMIM:232800
HP:0011354	Generalized abnormality of skin	54532	USP53	OMIM:619658
HP:0011354	Generalized abnormality of skin	5195	PEX14	OMIM:614887
HP:0011354	Generalized abnormality of skin	5195	PEX14	ORPHA:912
HP:0011354	Generalized abnormality of skin	29929	ALG6	ORPHA:79320
HP:0011354	Generalized abnormality of skin	5825	ABCD3	OMIM:616278
HP:0011354	Generalized abnormality of skin	113220	KIF12	OMIM:619662
HP:0011354	Generalized abnormality of skin	27429	HTRA2	OMIM:617248
HP:0011354	Generalized abnormality of skin	5824	PEX19	ORPHA:912
HP:0011354	Generalized abnormality of skin	8504	PEX3	ORPHA:912
HP:0011354	Generalized abnormality of skin	8799	PEX11B	ORPHA:912
HP:0011354	Generalized abnormality of skin	5193	PEX12	ORPHA:912
HP:0011354	Generalized abnormality of skin	5194	PEX13	ORPHA:912
HP:0011354	Generalized abnormality of skin	6006	RHCE	ORPHA:71275
HP:0011354	Generalized abnormality of skin	6007	RHD	ORPHA:71275
HP:0011354	Generalized abnormality of skin	10159	ATP6AP2	OMIM:301045
HP:0011354	Generalized abnormality of skin	3155	HMGCL	ORPHA:20
HP:0011354	Generalized abnormality of skin	763	CA5A	OMIM:615751
HP:0011354	Generalized abnormality of skin	84529	CDIN1	OMIM:615631
HP:0011354	Generalized abnormality of skin	1798	DPAGT1	OMIM:608093
HP:0011354	Generalized abnormality of skin	3875	KRT18	OMIM:215600
HP:0011354	Generalized abnormality of skin	4023	LPL	OMIM:238600
HP:0011354	Generalized abnormality of skin	672	BRCA1	ORPHA:70567
HP:0011354	Generalized abnormality of skin	672	BRCA1	ORPHA:1333
HP:0011354	Generalized abnormality of skin	675	BRCA2	ORPHA:70567
HP:0011354	Generalized abnormality of skin	675	BRCA2	ORPHA:1333
HP:0011354	Generalized abnormality of skin	5774	PTPN3	ORPHA:70567
HP:0011354	Generalized abnormality of skin	9076	CLDN1	ORPHA:59303
HP:0011354	Generalized abnormality of skin	9076	CLDN1	OMIM:607626
HP:0011354	Generalized abnormality of skin	7849	PAX8	ORPHA:95720
HP:0011354	Generalized abnormality of skin	7849	PAX8	ORPHA:95712
HP:0011354	Generalized abnormality of skin	5172	SLC26A4	ORPHA:95720
HP:0011354	Generalized abnormality of skin	2592	GALT	ORPHA:79239
HP:0011354	Generalized abnormality of skin	51473	DCDC2	OMIM:617394
HP:0011354	Generalized abnormality of skin	51218	GLRX5	OMIM:616860
HP:0011354	Generalized abnormality of skin	2821	GPI	OMIM:613470
HP:0011354	Generalized abnormality of skin	50619	DEF6	OMIM:619573
HP:0011354	Generalized abnormality of skin	7019	TFAM	OMIM:617156
HP:0011354	Generalized abnormality of skin	3431	SP110	ORPHA:79124
HP:0011354	Generalized abnormality of skin	1482	NKX2-5	ORPHA:95712
HP:0011354	Generalized abnormality of skin	5277	PIGA	ORPHA:447
HP:0011354	Generalized abnormality of skin	26276	VPS33B	OMIM:208085
HP:0011354	Generalized abnormality of skin	26276	VPS33B	OMIM:620010
HP:0011354	Generalized abnormality of skin	7289	TULP3	OMIM:619902
HP:0011354	Generalized abnormality of skin	285282	RABL3	ORPHA:1333
HP:0011354	Generalized abnormality of skin	1029	CDKN2A	ORPHA:1333
HP:0011354	Generalized abnormality of skin	79728	PALB2	ORPHA:1333
HP:0011354	Generalized abnormality of skin	23022	PALLD	ORPHA:1333
HP:0011354	Generalized abnormality of skin	84701	COX4I2	OMIM:612714
HP:0011354	Generalized abnormality of skin	9493	KIF23	OMIM:105600
HP:0011354	Generalized abnormality of skin	5644	PRSS1	ORPHA:676
HP:0011354	Generalized abnormality of skin	5645	PRSS2	ORPHA:676
HP:0011354	Generalized abnormality of skin	846	CASR	ORPHA:676
HP:0011354	Generalized abnormality of skin	1357	CPA1	ORPHA:676
HP:0011354	Generalized abnormality of skin	570	BAAT	OMIM:619232
HP:0011354	Generalized abnormality of skin	6711	SPTBN1	OMIM:619475
HP:0011354	Generalized abnormality of skin	6928	HNF1B	ORPHA:93111
HP:0011354	Generalized abnormality of skin	286410	ATP11C	OMIM:301015
HP:0011354	Generalized abnormality of skin	10483	SEC23B	OMIM:224100
HP:0011354	Generalized abnormality of skin	51124	IER3IP1	OMIM:614231
HP:0011354	Generalized abnormality of skin	3098	HK1	OMIM:235700
HP:0011354	Generalized abnormality of skin	226	ALDOA	OMIM:611881
HP:0011354	Generalized abnormality of skin	100506658	OCLN	OMIM:251290
HP:0011354	Generalized abnormality of skin	199221	DZIP1L	ORPHA:731
HP:0011354	Generalized abnormality of skin	2215	FCGR3B	ORPHA:464370
HP:0011354	Generalized abnormality of skin	25974	MMACHC	ORPHA:79282
HP:0011354	Generalized abnormality of skin	1719	DHFR	OMIM:613839
HP:0011354	Generalized abnormality of skin	9451	EIF2AK3	ORPHA:1667
HP:0011354	Generalized abnormality of skin	37	ACADVL	ORPHA:26793
HP:0011354	Generalized abnormality of skin	2108	ETFA	OMIM:231680
HP:0011354	Generalized abnormality of skin	2109	ETFB	OMIM:231680
HP:0011354	Generalized abnormality of skin	2110	ETFDH	OMIM:231680
HP:0011354	Generalized abnormality of skin	3988	LIPA	ORPHA:75234
HP:0011354	Generalized abnormality of skin	2582	GALE	OMIM:230350
HP:0011354	Generalized abnormality of skin	137814	NKX2-6	ORPHA:3384
HP:0011354	Generalized abnormality of skin	23129	PLXND1	ORPHA:3384
HP:0011354	Generalized abnormality of skin	51422	PRKAG2	OMIM:261740
HP:0011354	Generalized abnormality of skin	5250	SLC25A3	ORPHA:91130
HP:0011354	Generalized abnormality of skin	5250	SLC25A3	OMIM:610773
HP:0011354	Generalized abnormality of skin	6334	SCN8A	ORPHA:306
HP:0011354	Generalized abnormality of skin	6326	SCN2A	ORPHA:306
HP:0011354	Generalized abnormality of skin	6326	SCN2A	OMIM:607745
HP:0011354	Generalized abnormality of skin	112476	PRRT2	ORPHA:306
HP:0011354	Generalized abnormality of skin	6440	SFTPC	OMIM:610913
HP:0011354	Generalized abnormality of skin	6440	SFTPC	ORPHA:70587
HP:0011354	Generalized abnormality of skin	6439	SFTPB	OMIM:265120
HP:0011354	Generalized abnormality of skin	6439	SFTPB	ORPHA:70587
HP:0011354	Generalized abnormality of skin	7547	ZIC3	OMIM:306955
HP:0011354	Generalized abnormality of skin	5105	PCK1	OMIM:261680
HP:0011354	Generalized abnormality of skin	21	ABCA3	OMIM:610921
HP:0011354	Generalized abnormality of skin	21	ABCA3	ORPHA:70587
HP:0011354	Generalized abnormality of skin	118856	MMP21	OMIM:616749
HP:0011354	Generalized abnormality of skin	83480	PUS3	ORPHA:488627
HP:0011354	Generalized abnormality of skin	1528	CYB5A	OMIM:250790
HP:0011354	Generalized abnormality of skin	1528	CYB5A	ORPHA:621
HP:0011354	Generalized abnormality of skin	2898	GRIK2	OMIM:619580
HP:0011354	Generalized abnormality of skin	440275	EIF2AK4	ORPHA:199241
HP:0011354	Generalized abnormality of skin	788	SLC25A20	ORPHA:159
HP:0011354	Generalized abnormality of skin	7092	TLL1	ORPHA:99106
HP:0011354	Generalized abnormality of skin	7092	TLL1	ORPHA:99103
HP:0011354	Generalized abnormality of skin	3028	HSD17B10	ORPHA:391428
HP:0011354	Generalized abnormality of skin	5337	PLD1	OMIM:212093
HP:0011354	Generalized abnormality of skin	57057	TBX20	ORPHA:99103
HP:0011354	Generalized abnormality of skin	4624	MYH6	ORPHA:99103
HP:0011354	Generalized abnormality of skin	70	ACTC1	ORPHA:99103
HP:0011354	Generalized abnormality of skin	10370	CITED2	ORPHA:99103
HP:0011354	Generalized abnormality of skin	2626	GATA4	ORPHA:99103
HP:0011354	Generalized abnormality of skin	2627	GATA6	ORPHA:99103
HP:0011354	Generalized abnormality of skin	1727	CYB5R3	OMIM:250800
HP:0011354	Generalized abnormality of skin	1727	CYB5R3	ORPHA:621
HP:0011354	Generalized abnormality of skin	55975	KLHL7	OMIM:617055
HP:0011354	Generalized abnormality of skin	8021	NUP214	OMIM:618426
HP:0011354	Generalized abnormality of skin	79770	TXNDC15	OMIM:619879
HP:0011354	Generalized abnormality of skin	60482	SLC5A7	ORPHA:98914
HP:0011354	Generalized abnormality of skin	4649	MYO9A	ORPHA:98914
HP:0011354	Generalized abnormality of skin	1305	COL13A1	ORPHA:98914
HP:0011354	Generalized abnormality of skin	1305	COL13A1	ORPHA:98913
HP:0011354	Generalized abnormality of skin	1103	CHAT	ORPHA:98914
HP:0011354	Generalized abnormality of skin	6576	SLC25A1	ORPHA:98914
HP:0011354	Generalized abnormality of skin	6843	VAMP1	ORPHA:98914
HP:0011354	Generalized abnormality of skin	375790	AGRN	ORPHA:98914
HP:0011354	Generalized abnormality of skin	375790	AGRN	ORPHA:98913
HP:0011354	Generalized abnormality of skin	127833	SYT2	ORPHA:98914
HP:0011354	Generalized abnormality of skin	6572	SLC18A3	ORPHA:98914
HP:0011354	Generalized abnormality of skin	6572	SLC18A3	OMIM:617239
HP:0011354	Generalized abnormality of skin	6616	SNAP25	ORPHA:98914
HP:0011354	Generalized abnormality of skin	6329	SCN4A	ORPHA:98913
HP:0011354	Generalized abnormality of skin	1134	CHRNA1	ORPHA:98913
HP:0011354	Generalized abnormality of skin	4038	LRP4	ORPHA:98913
HP:0011354	Generalized abnormality of skin	1140	CHRNB1	ORPHA:98913
HP:0011354	Generalized abnormality of skin	1144	CHRND	ORPHA:98913
HP:0011354	Generalized abnormality of skin	1145	CHRNE	ORPHA:98913
HP:0011354	Generalized abnormality of skin	4593	MUSK	ORPHA:98913
HP:0011354	Generalized abnormality of skin	5913	RAPSN	ORPHA:98913
HP:0011354	Generalized abnormality of skin	221264	AK9	ORPHA:98913
HP:0011354	Generalized abnormality of skin	285489	DOK7	ORPHA:98913
HP:0011354	Generalized abnormality of skin	8241	RBM10	ORPHA:2886
HP:0011354	Generalized abnormality of skin	4724	NDUFS4	OMIM:252010
HP:0011354	Generalized abnormality of skin	54916	TMEM260	OMIM:617478
HP:0011354	Generalized abnormality of skin	10568	SLC34A2	ORPHA:60025
HP:0011354	Generalized abnormality of skin	80199	FUZ	ORPHA:1136
HP:0011354	Generalized abnormality of skin	84705	GTPBP3	ORPHA:444013
HP:0011354	Generalized abnormality of skin	23476	BRD4	ORPHA:199
HP:0011354	Generalized abnormality of skin	9126	SMC3	ORPHA:199
HP:0011354	Generalized abnormality of skin	9126	SMC3	OMIM:610759
HP:0011354	Generalized abnormality of skin	8243	SMC1A	ORPHA:199
HP:0011354	Generalized abnormality of skin	8243	SMC1A	OMIM:300590
HP:0011354	Generalized abnormality of skin	25836	NIPBL	ORPHA:199
HP:0011354	Generalized abnormality of skin	25836	NIPBL	OMIM:122470
HP:0011354	Generalized abnormality of skin	55869	HDAC8	ORPHA:199
HP:0011354	Generalized abnormality of skin	55869	HDAC8	OMIM:300882
HP:0011354	Generalized abnormality of skin	5885	RAD21	ORPHA:199
HP:0011354	Generalized abnormality of skin	5885	RAD21	OMIM:614701
HP:0011354	Generalized abnormality of skin	57514	ARHGAP31	OMIM:100300
HP:0011354	Generalized abnormality of skin	57514	ARHGAP31	ORPHA:974
HP:0011354	Generalized abnormality of skin	8364	H4C3	OMIM:619758
HP:0011354	Generalized abnormality of skin	10274	STAG1	ORPHA:502434
HP:0011354	Generalized abnormality of skin	4774	NFIA	OMIM:613735
HP:0011354	Generalized abnormality of skin	4774	NFIA	ORPHA:401986
HP:0011354	Generalized abnormality of skin	10060	ABCC9	OMIM:619719
HP:0011354	Generalized abnormality of skin	55027	HEATR3	OMIM:620072
HP:0011354	Generalized abnormality of skin	3516	RBPJ	ORPHA:974
HP:0011354	Generalized abnormality of skin	4851	NOTCH1	ORPHA:974
HP:0011354	Generalized abnormality of skin	57572	DOCK6	ORPHA:974
HP:0011354	Generalized abnormality of skin	57572	DOCK6	OMIM:614219
HP:0011354	Generalized abnormality of skin	285203	EOGT	ORPHA:974
HP:0011354	Generalized abnormality of skin	285203	EOGT	OMIM:615297
HP:0011354	Generalized abnormality of skin	54567	DLL4	ORPHA:974
HP:0011354	Generalized abnormality of skin	54567	DLL4	OMIM:616589
HP:0011354	Generalized abnormality of skin	79068	FTO	OMIM:612938
HP:0011354	Generalized abnormality of skin	5422	POLA1	OMIM:301220
HP:0011354	Generalized abnormality of skin	57492	ARID1B	OMIM:135900
HP:0011354	Generalized abnormality of skin	1663	DDX11	OMIM:613398
HP:0011354	Generalized abnormality of skin	10000	AKT3	OMIM:615937
HP:0011354	Generalized abnormality of skin	51574	LARP7	ORPHA:319671
HP:0011354	Generalized abnormality of skin	25	ABL1	OMIM:617602
HP:0011354	Generalized abnormality of skin	54809	SAMD9	OMIM:617053
HP:0011354	Generalized abnormality of skin	83706	FERMT3	OMIM:612840
HP:0011354	Generalized abnormality of skin	2533	FYB1	OMIM:273900
HP:0011354	Generalized abnormality of skin	348	APOE	ORPHA:158029
HP:0011354	Generalized abnormality of skin	3937	LCP2	OMIM:619374
HP:0011354	Generalized abnormality of skin	11274	USP18	OMIM:617397
HP:0011354	Generalized abnormality of skin	55340	GIMAP5	OMIM:619463
HP:0011354	Generalized abnormality of skin	64858	DCLRE1B	OMIM:620133
HP:0011354	Generalized abnormality of skin	8313	AXIN2	ORPHA:401911
HP:0011354	Generalized abnormality of skin	83999	KREMEN1	OMIM:617392
HP:0011354	Generalized abnormality of skin	2121	EVC	OMIM:225500
HP:0011354	Generalized abnormality of skin	132884	EVC2	OMIM:225500
HP:0011354	Generalized abnormality of skin	284058	KANSL1	ORPHA:363958
HP:0011354	Generalized abnormality of skin	284058	KANSL1	ORPHA:363965
HP:0011354	Generalized abnormality of skin	5818	NECTIN1	OMIM:225060
HP:0011354	Generalized abnormality of skin	5818	NECTIN1	ORPHA:3253
HP:0011354	Generalized abnormality of skin	81607	NECTIN4	OMIM:613573
HP:0011354	Generalized abnormality of skin	1001	CDH3	OMIM:225280
HP:0011354	Generalized abnormality of skin	57539	WDR35	OMIM:613610
HP:0011354	Generalized abnormality of skin	128178	EDARADD	OMIM:614941
HP:0011354	Generalized abnormality of skin	128178	EDARADD	OMIM:129490
HP:0011354	Generalized abnormality of skin	56916	SMARCAD1	OMIM:129200
HP:0011354	Generalized abnormality of skin	55764	IFT122	OMIM:218330
HP:0011354	Generalized abnormality of skin	10913	EDAR	OMIM:129490
HP:0011354	Generalized abnormality of skin	112752	IFT43	OMIM:614099
HP:0011354	Generalized abnormality of skin	22861	NLRP1	OMIM:615225
HP:0011354	Generalized abnormality of skin	3229	HOXC13	OMIM:614931
HP:0011354	Generalized abnormality of skin	4088	SMAD3	ORPHA:284984
HP:0011354	Generalized abnormality of skin	4088	SMAD3	OMIM:613795
HP:0011354	Generalized abnormality of skin	4088	SMAD3	ORPHA:91387
HP:0011354	Generalized abnormality of skin	355	FAS	ORPHA:3261
HP:0011354	Generalized abnormality of skin	356	FASLG	ORPHA:3261
HP:0011354	Generalized abnormality of skin	843	CASP10	ORPHA:3261
HP:0011354	Generalized abnormality of skin	10125	RASGRP1	ORPHA:3261
HP:0011354	Generalized abnormality of skin	2243	FGA	OMIM:202400
HP:0011354	Generalized abnormality of skin	2244	FGB	OMIM:202400
HP:0011354	Generalized abnormality of skin	2266	FGG	OMIM:202400
HP:0011354	Generalized abnormality of skin	10312	TCIRG1	ORPHA:667
HP:0011354	Generalized abnormality of skin	1186	CLCN7	ORPHA:667
HP:0011354	Generalized abnormality of skin	29887	SNX10	ORPHA:667
HP:0011354	Generalized abnormality of skin	8600	TNFSF11	ORPHA:667
HP:0011354	Generalized abnormality of skin	54453	RIN2	ORPHA:217335
HP:0011354	Generalized abnormality of skin	54453	RIN2	OMIM:613075
HP:0011354	Generalized abnormality of skin	2175	FANCA	OMIM:227650
HP:0011354	Generalized abnormality of skin	2120	ETV6	OMIM:616216
HP:0011354	Generalized abnormality of skin	55033	FKBP14	OMIM:614557
HP:0011354	Generalized abnormality of skin	55033	FKBP14	ORPHA:300179
HP:0011354	Generalized abnormality of skin	10235	RASGRP2	OMIM:615888
HP:0011354	Generalized abnormality of skin	1130	LYST	OMIM:214500
HP:0011354	Generalized abnormality of skin	1130	LYST	ORPHA:167
HP:0011354	Generalized abnormality of skin	1130	LYST	ORPHA:352723
HP:0011354	Generalized abnormality of skin	2542	SLC37A4	ORPHA:79259
HP:0011354	Generalized abnormality of skin	23218	NBEAL2	OMIM:139090
HP:0011354	Generalized abnormality of skin	23218	NBEAL2	ORPHA:721
HP:0011354	Generalized abnormality of skin	63915	BLOC1S5	OMIM:619172
HP:0011354	Generalized abnormality of skin	3039	HBA1	ORPHA:98791
HP:0011354	Generalized abnormality of skin	3040	HBA2	ORPHA:98791
HP:0011354	Generalized abnormality of skin	51206	GP6	OMIM:614201
HP:0011354	Generalized abnormality of skin	90993	CREB3L1	OMIM:616229
HP:0011354	Generalized abnormality of skin	2155	F7	ORPHA:327
HP:0011354	Generalized abnormality of skin	2155	F7	OMIM:227500
HP:0011354	Generalized abnormality of skin	4627	MYH9	OMIM:155100
HP:0011354	Generalized abnormality of skin	4627	MYH9	ORPHA:182050
HP:0011354	Generalized abnormality of skin	4784	NFIX	ORPHA:561
HP:0011354	Generalized abnormality of skin	22852	ANKRD26	OMIM:188000
HP:0011354	Generalized abnormality of skin	2178	FANCE	OMIM:600901
HP:0011354	Generalized abnormality of skin	11107	PRDM5	OMIM:614170
HP:0011354	Generalized abnormality of skin	11107	PRDM5	ORPHA:90354
HP:0011354	Generalized abnormality of skin	4507	MTAP	OMIM:112250
HP:0011354	Generalized abnormality of skin	8985	PLOD3	OMIM:612394
HP:0011354	Generalized abnormality of skin	5328	PLAU	OMIM:601709
HP:0011354	Generalized abnormality of skin	342618	SLFN14	OMIM:616913
HP:0011354	Generalized abnormality of skin	200734	SPRED2	OMIM:619745
HP:0011354	Generalized abnormality of skin	2316	FLNA	ORPHA:75497
HP:0011354	Generalized abnormality of skin	2677	GGCX	OMIM:277450
HP:0011354	Generalized abnormality of skin	540	ATP7B	ORPHA:905
HP:0011354	Generalized abnormality of skin	3257	HPS1	OMIM:203300
HP:0011354	Generalized abnormality of skin	64805	P2RY12	OMIM:609821
HP:0011354	Generalized abnormality of skin	2624	GATA2	ORPHA:3226
HP:0011354	Generalized abnormality of skin	5345	SERPINF2	ORPHA:79
HP:0011354	Generalized abnormality of skin	5345	SERPINF2	OMIM:262850
HP:0011354	Generalized abnormality of skin	89781	HPS4	OMIM:614073
HP:0011354	Generalized abnormality of skin	11234	HPS5	OMIM:614074
HP:0011354	Generalized abnormality of skin	2934	GSN	ORPHA:85448
HP:0011354	Generalized abnormality of skin	84343	HPS3	OMIM:614072
HP:0011354	Generalized abnormality of skin	388552	BLOC1S3	OMIM:614077
HP:0011354	Generalized abnormality of skin	5594	MAPK1	OMIM:619087
HP:0011354	Generalized abnormality of skin	3998	LMAN1	ORPHA:35909
HP:0011354	Generalized abnormality of skin	90411	MCFD2	ORPHA:35909
HP:0011354	Generalized abnormality of skin	200931	SLC51A	OMIM:619484
HP:0011354	Generalized abnormality of skin	79803	HPS6	OMIM:614075
HP:0011354	Generalized abnormality of skin	84062	DTNBP1	OMIM:614076
HP:0011354	Generalized abnormality of skin	84627	ZNF469	ORPHA:90354
HP:0011354	Generalized abnormality of skin	23387	SIK3	OMIM:618162
HP:0011354	Generalized abnormality of skin	11117	EMILIN1	OMIM:620080
HP:0011354	Generalized abnormality of skin	2177	FANCD2	OMIM:227646
HP:0011354	Generalized abnormality of skin	2176	FANCC	OMIM:227645
HP:0011354	Generalized abnormality of skin	6915	TBXA2R	OMIM:614009
HP:0011354	Generalized abnormality of skin	2147	F2	OMIM:613679
HP:0011354	Generalized abnormality of skin	60681	FKBP10	OMIM:610968
HP:0011354	Generalized abnormality of skin	91252	SLC39A13	ORPHA:157965
HP:0011354	Generalized abnormality of skin	91252	SLC39A13	OMIM:612350
HP:0011354	Generalized abnormality of skin	7046	TGFBR1	ORPHA:60030
HP:0011354	Generalized abnormality of skin	7046	TGFBR1	ORPHA:91387
HP:0011354	Generalized abnormality of skin	7048	TGFBR2	ORPHA:60030
HP:0011354	Generalized abnormality of skin	7048	TGFBR2	ORPHA:91387
HP:0011354	Generalized abnormality of skin	7042	TGFB2	OMIM:614816
HP:0011354	Generalized abnormality of skin	7042	TGFB2	ORPHA:91387
HP:0011354	Generalized abnormality of skin	6654	SOS1	OMIM:610733
HP:0011354	Generalized abnormality of skin	4015	LOX	ORPHA:91387
HP:0011354	Generalized abnormality of skin	4087	SMAD2	ORPHA:91387
HP:0011354	Generalized abnormality of skin	5592	PRKG1	ORPHA:91387
HP:0011354	Generalized abnormality of skin	2301	FOXE3	ORPHA:91387
HP:0011354	Generalized abnormality of skin	4144	MAT2A	ORPHA:91387
HP:0011354	Generalized abnormality of skin	23493	HEY2	ORPHA:91387
HP:0011354	Generalized abnormality of skin	8076	MFAP5	ORPHA:91387
HP:0011354	Generalized abnormality of skin	4638	MYLK	ORPHA:91387
HP:0011354	Generalized abnormality of skin	950	SCARB2	ORPHA:77259
HP:0011354	Generalized abnormality of skin	8328	GFI1B	OMIM:187900
HP:0011354	Generalized abnormality of skin	3674	ITGA2B	OMIM:273800
HP:0011354	Generalized abnormality of skin	3674	ITGA2B	ORPHA:853
HP:0011354	Generalized abnormality of skin	3674	ITGA2B	ORPHA:849
HP:0011354	Generalized abnormality of skin	7454	WAS	OMIM:301000
HP:0011354	Generalized abnormality of skin	7454	WAS	ORPHA:906
HP:0011354	Generalized abnormality of skin	7450	VWF	OMIM:193400
HP:0011354	Generalized abnormality of skin	720	C4A	OMIM:614380
HP:0011354	Generalized abnormality of skin	975	CD81	OMIM:613496
HP:0011354	Generalized abnormality of skin	975	CD81	ORPHA:1572
HP:0011354	Generalized abnormality of skin	811	CALR	OMIM:254450
HP:0011354	Generalized abnormality of skin	811	CALR	ORPHA:824
HP:0011354	Generalized abnormality of skin	4352	MPL	OMIM:254450
HP:0011354	Generalized abnormality of skin	4352	MPL	ORPHA:824
HP:0011354	Generalized abnormality of skin	7456	WIPF1	ORPHA:906
HP:0011354	Generalized abnormality of skin	26191	PTPN22	ORPHA:900
HP:0011354	Generalized abnormality of skin	3115	HLA-DPB1	ORPHA:900
HP:0011354	Generalized abnormality of skin	5657	PRTN3	ORPHA:900
HP:0011354	Generalized abnormality of skin	3113	HLA-DPA1	ORPHA:900
HP:0011354	Generalized abnormality of skin	5627	PROS1	ORPHA:743
HP:0011354	Generalized abnormality of skin	5627	PROS1	OMIM:614514
HP:0011354	Generalized abnormality of skin	5627	PROS1	OMIM:612336
HP:0011354	Generalized abnormality of skin	7036	TFR2	OMIM:604250
HP:0011354	Generalized abnormality of skin	5624	PROC	ORPHA:745
HP:0011354	Generalized abnormality of skin	5624	PROC	OMIM:612304
HP:0011354	Generalized abnormality of skin	5551	PRF1	ORPHA:540
HP:0011354	Generalized abnormality of skin	8676	STX11	ORPHA:540
HP:0011354	Generalized abnormality of skin	201294	UNC13D	ORPHA:540
HP:0011354	Generalized abnormality of skin	6813	STXBP2	ORPHA:540
HP:0011354	Generalized abnormality of skin	2811	GP1BA	ORPHA:853
HP:0011354	Generalized abnormality of skin	2811	GP1BA	OMIM:231200
HP:0011354	Generalized abnormality of skin	2812	GP1BB	ORPHA:853
HP:0011354	Generalized abnormality of skin	2812	GP1BB	ORPHA:567
HP:0011354	Generalized abnormality of skin	2812	GP1BB	OMIM:231200
HP:0011354	Generalized abnormality of skin	3673	ITGA2	ORPHA:853
HP:0011354	Generalized abnormality of skin	135228	CD109	ORPHA:853
HP:0011354	Generalized abnormality of skin	3690	ITGB3	ORPHA:853
HP:0011354	Generalized abnormality of skin	3690	ITGB3	ORPHA:849
HP:0011354	Generalized abnormality of skin	2767	GNA11	ORPHA:1556
HP:0011354	Generalized abnormality of skin	151188	ARL6IP6	ORPHA:1556
HP:0011354	Generalized abnormality of skin	54	ACP5	OMIM:607944
HP:0011354	Generalized abnormality of skin	9630	GNA14	ORPHA:1063
HP:0011354	Generalized abnormality of skin	9103	FCGR2C	ORPHA:3002
HP:0011354	Generalized abnormality of skin	1312	COMT	ORPHA:567
HP:0011354	Generalized abnormality of skin	221037	JMJD1C	ORPHA:567
HP:0011354	Generalized abnormality of skin	6239	RREB1	ORPHA:567
HP:0011354	Generalized abnormality of skin	6899	TBX1	ORPHA:567
HP:0011354	Generalized abnormality of skin	7290	HIRA	ORPHA:567
HP:0011354	Generalized abnormality of skin	9632	SEC24C	ORPHA:567
HP:0011354	Generalized abnormality of skin	7353	UFD1	ORPHA:567
HP:0011354	Generalized abnormality of skin	421	ARVCF	ORPHA:567
HP:0011354	Generalized abnormality of skin	84876	ORAI1	ORPHA:3204
HP:0011354	Generalized abnormality of skin	6786	STIM1	ORPHA:3204
HP:0011354	Generalized abnormality of skin	717	C2	OMIM:217000
HP:0011354	Generalized abnormality of skin	5371	PML	ORPHA:520
HP:0011354	Generalized abnormality of skin	5914	RARA	ORPHA:520
HP:0011354	Generalized abnormality of skin	359948	IRF2BP2	ORPHA:520
HP:0011354	Generalized abnormality of skin	359948	IRF2BP2	ORPHA:1572
HP:0011354	Generalized abnormality of skin	81608	FIP1L1	ORPHA:520
HP:0011354	Generalized abnormality of skin	4869	NPM1	ORPHA:520
HP:0011354	Generalized abnormality of skin	54880	BCOR	ORPHA:520
HP:0011354	Generalized abnormality of skin	64859	NABP1	ORPHA:520
HP:0011354	Generalized abnormality of skin	6777	STAT5B	ORPHA:520
HP:0011354	Generalized abnormality of skin	4926	NUMA1	ORPHA:520
HP:0011354	Generalized abnormality of skin	7704	ZBTB16	ORPHA:520
HP:0011354	Generalized abnormality of skin	4615	MYD88	ORPHA:33226
HP:0011354	Generalized abnormality of skin	2815	GP9	OMIM:231200
HP:0011354	Generalized abnormality of skin	23495	TNFRSF13B	ORPHA:1572
HP:0011354	Generalized abnormality of skin	4790	NFKB1	ORPHA:1572
HP:0011354	Generalized abnormality of skin	4791	NFKB2	ORPHA:1572
HP:0011354	Generalized abnormality of skin	115650	TNFRSF13C	ORPHA:1572
HP:0011354	Generalized abnormality of skin	1380	CR2	ORPHA:1572
HP:0011354	Generalized abnormality of skin	8742	TNFSF12	ORPHA:1572
HP:0011354	Generalized abnormality of skin	5580	PRKCD	ORPHA:1572
HP:0011354	Generalized abnormality of skin	930	CD19	ORPHA:1572
HP:0011354	Generalized abnormality of skin	29851	ICOS	ORPHA:1572
HP:0011354	Generalized abnormality of skin	931	MS4A1	ORPHA:1572
HP:0011354	Generalized abnormality of skin	3207	HOXA11	OMIM:605432
HP:0011354	Generalized abnormality of skin	3078	CFHR1	OMIM:235400
HP:0011354	Generalized abnormality of skin	10878	CFHR3	OMIM:235400
HP:0011354	Generalized abnormality of skin	212	ALAS2	OMIM:300752
HP:0011354	Generalized abnormality of skin	144165	PRICKLE1	ORPHA:308
HP:0011354	Generalized abnormality of skin	1476	CSTB	ORPHA:308
HP:0011354	Generalized abnormality of skin	7681	MKRN3	OMIM:176270
HP:0011354	Generalized abnormality of skin	3653	IPW	OMIM:176270
HP:0011354	Generalized abnormality of skin	54551	MAGEL2	OMIM:176270
HP:0011354	Generalized abnormality of skin	791114	PWRN1	OMIM:176270
HP:0011354	Generalized abnormality of skin	100033413	SNORD116-1	OMIM:176270
HP:0011354	Generalized abnormality of skin	8924	HERC2	OMIM:176270
HP:0011354	Generalized abnormality of skin	145624	PWAR1	OMIM:176270
HP:0011354	Generalized abnormality of skin	23742	NPAP1	OMIM:176270
HP:0011354	Generalized abnormality of skin	338433	SNORD115-1	OMIM:176270
HP:0011354	Generalized abnormality of skin	6096	RORB	OMIM:618357
HP:0011354	Generalized abnormality of skin	5429	POLH	OMIM:278750
HP:0011354	Generalized abnormality of skin	5429	POLH	ORPHA:90342
HP:0011354	Generalized abnormality of skin	5498	PPOX	OMIM:176200
HP:0011354	Generalized abnormality of skin	5498	PPOX	ORPHA:79473
HP:0011354	Generalized abnormality of skin	1717	DHCR7	ORPHA:818
HP:0011354	Generalized abnormality of skin	8626	TP63	OMIM:103285
HP:0011354	Generalized abnormality of skin	1536	CYBB	ORPHA:379
HP:0011354	Generalized abnormality of skin	4688	NCF2	ORPHA:379
HP:0011354	Generalized abnormality of skin	1535	CYBA	ORPHA:379
HP:0011354	Generalized abnormality of skin	4689	NCF4	ORPHA:379
HP:0011354	Generalized abnormality of skin	653361	NCF1	ORPHA:379
HP:0011354	Generalized abnormality of skin	79415	CYBC1	ORPHA:379
HP:0011354	Generalized abnormality of skin	8831	SYNGAP1	ORPHA:544254
HP:0011354	Generalized abnormality of skin	2067	ERCC1	ORPHA:1466
HP:0011354	Generalized abnormality of skin	340024	SLC6A19	OMIM:234500
HP:0011354	Generalized abnormality of skin	340024	SLC6A19	ORPHA:2116
HP:0011354	Generalized abnormality of skin	10845	CLPX	OMIM:618015
HP:0011354	Generalized abnormality of skin	1656	DDX6	OMIM:618653
HP:0011354	Generalized abnormality of skin	54888	NSUN2	ORPHA:235
HP:0011354	Generalized abnormality of skin	7737	RNF113A	OMIM:300953
HP:0011354	Generalized abnormality of skin	7737	RNF113A	ORPHA:33364
HP:0011354	Generalized abnormality of skin	6897	TARS1	OMIM:618546
HP:0011354	Generalized abnormality of skin	6897	TARS1	ORPHA:33364
HP:0011354	Generalized abnormality of skin	375748	ERCC6L2	OMIM:615715
HP:0011354	Generalized abnormality of skin	284252	KCTD1	OMIM:181270
HP:0011354	Generalized abnormality of skin	2222	FDFT1	OMIM:618156
HP:0011354	Generalized abnormality of skin	10654	PMVK	ORPHA:735
HP:0011354	Generalized abnormality of skin	57393	CLTRN	ORPHA:2116
HP:0011354	Generalized abnormality of skin	57654	UVSSA	OMIM:614640
HP:0011354	Generalized abnormality of skin	2961	GTF2E2	OMIM:616943
HP:0011354	Generalized abnormality of skin	2961	GTF2E2	ORPHA:33364
HP:0011354	Generalized abnormality of skin	404672	GTF2H5	ORPHA:33364
HP:0011354	Generalized abnormality of skin	404672	GTF2H5	OMIM:616395
HP:0011354	Generalized abnormality of skin	833	CARS1	ORPHA:33364
HP:0011354	Generalized abnormality of skin	136647	MPLKIP	ORPHA:33364
HP:0011354	Generalized abnormality of skin	10058	ABCB6	ORPHA:241
HP:0011354	Generalized abnormality of skin	10457	GPNMB	OMIM:617920
HP:0011354	Generalized abnormality of skin	2212	FCGR2A	OMIM:152700
HP:0011354	Generalized abnormality of skin	2213	FCGR2B	OMIM:152700
HP:0011354	Generalized abnormality of skin	1773	DNASE1	OMIM:152700
HP:0011354	Generalized abnormality of skin	7957	EPM2A	OMIM:254780
HP:0011354	Generalized abnormality of skin	378884	NHLRC1	OMIM:254780
HP:0011354	Generalized abnormality of skin	2224	FDPS	ORPHA:79152
HP:0011354	Generalized abnormality of skin	4597	MVD	ORPHA:79152
HP:0011354	Generalized abnormality of skin	63910	SLC17A9	ORPHA:79152
HP:0011354	Generalized abnormality of skin	11284	PNKP	ORPHA:459033
HP:0011354	Generalized abnormality of skin	5590	PRKCZ	ORPHA:1606
HP:0011354	Generalized abnormality of skin	2563	GABRD	ORPHA:1606
HP:0011354	Generalized abnormality of skin	23013	SPEN	ORPHA:1606
HP:0011354	Generalized abnormality of skin	8510	MMP23B	ORPHA:1606
HP:0011354	Generalized abnormality of skin	7798	LUZP1	ORPHA:1606
HP:0011354	Generalized abnormality of skin	6497	SKI	ORPHA:1606
HP:0011354	Generalized abnormality of skin	10630	PDPN	ORPHA:1606
HP:0011354	Generalized abnormality of skin	3339	HSPG2	ORPHA:1606
HP:0011354	Generalized abnormality of skin	10277	UBE4B	ORPHA:1606
HP:0011354	Generalized abnormality of skin	8514	KCNAB2	ORPHA:1606
HP:0011354	Generalized abnormality of skin	473	RERE	ORPHA:1606
HP:0011354	Generalized abnormality of skin	63976	PRDM16	ORPHA:1606
HP:0011354	Generalized abnormality of skin	54897	CASZ1	ORPHA:1606
HP:0011354	Generalized abnormality of skin	1729	DIAPH1	ORPHA:2573
HP:0011354	Generalized abnormality of skin	57674	RNF213	ORPHA:2573
HP:0011354	Generalized abnormality of skin	79650	USB1	OMIM:604173
HP:0011354	Generalized abnormality of skin	83605	CCM2	OMIM:603284
HP:0011354	Generalized abnormality of skin	2050	EPHB4	OMIM:618196
HP:0011354	Generalized abnormality of skin	2050	EPHB4	ORPHA:137667
HP:0011354	Generalized abnormality of skin	4010	LMX1B	ORPHA:495818
HP:0011354	Generalized abnormality of skin	6812	STXBP1	ORPHA:495818
HP:0011354	Generalized abnormality of skin	8813	DPM1	OMIM:608799
HP:0011354	Generalized abnormality of skin	84992	PIGY	ORPHA:247262
HP:0011354	Generalized abnormality of skin	84720	PIGO	ORPHA:247262
HP:0011354	Generalized abnormality of skin	93210	PGAP3	ORPHA:247262
HP:0011354	Generalized abnormality of skin	284098	PIGW	ORPHA:247262
HP:0011354	Generalized abnormality of skin	27315	PGAP2	ORPHA:247262
HP:0011354	Generalized abnormality of skin	55650	PIGV	ORPHA:247262
HP:0011354	Generalized abnormality of skin	4361	MRE11	OMIM:604391
HP:0011354	Generalized abnormality of skin	659	BMPR2	OMIM:178600
HP:0011354	Generalized abnormality of skin	650	BMP2	OMIM:235200
HP:0011354	Generalized abnormality of skin	4758	NEU1	ORPHA:93400
HP:0011354	Generalized abnormality of skin	4126	MANBA	OMIM:248510
HP:0011354	Generalized abnormality of skin	92579	G6PC3	OMIM:612541
HP:0011354	Generalized abnormality of skin	284119	CAVIN1	ORPHA:528
HP:0011354	Generalized abnormality of skin	2353	FOS	ORPHA:528
HP:0011354	Generalized abnormality of skin	2324	FLT4	OMIM:153100
HP:0011354	Generalized abnormality of skin	7424	VEGFC	OMIM:615907
HP:0011354	Generalized abnormality of skin	875	CBS	ORPHA:394
HP:0011354	Generalized abnormality of skin	10262	SF3B4	OMIM:154400
HP:0011354	Generalized abnormality of skin	118429	ANTXR2	ORPHA:2176
HP:0011354	Generalized abnormality of skin	58484	NLRC4	OMIM:616050
HP:0011354	Generalized abnormality of skin	58484	NLRC4	OMIM:616115
HP:0011354	Generalized abnormality of skin	91662	NLRP12	OMIM:611762
HP:0011354	Generalized abnormality of skin	50943	FOXP3	ORPHA:37042
HP:0011354	Generalized abnormality of skin	80216	ALPK1	OMIM:614979
HP:0011354	Generalized abnormality of skin	5317	PKP1	OMIM:604536
HP:0011354	Generalized abnormality of skin	5317	PKP1	ORPHA:158668
HP:0011354	Generalized abnormality of skin	1832	DSP	ORPHA:158687
HP:0011354	Generalized abnormality of skin	3728	JUP	ORPHA:158687
HP:0011354	Generalized abnormality of skin	3728	JUP	OMIM:601214
HP:0011354	Generalized abnormality of skin	716	C1S	OMIM:617174
HP:0011354	Generalized abnormality of skin	5339	PLEC	OMIM:226730
HP:0011354	Generalized abnormality of skin	5339	PLEC	ORPHA:158684
HP:0011354	Generalized abnormality of skin	5339	PLEC	OMIM:612138
HP:0011354	Generalized abnormality of skin	5339	PLEC	ORPHA:79401
HP:0011354	Generalized abnormality of skin	3691	ITGB4	OMIM:226730
HP:0011354	Generalized abnormality of skin	3691	ITGB4	ORPHA:158684
HP:0011354	Generalized abnormality of skin	3691	ITGB4	ORPHA:251393
HP:0011354	Generalized abnormality of skin	3675	ITGA3	OMIM:614748
HP:0011354	Generalized abnormality of skin	3909	LAMA3	ORPHA:79404
HP:0011354	Generalized abnormality of skin	3918	LAMC2	ORPHA:79404
HP:0011354	Generalized abnormality of skin	3914	LAMB3	ORPHA:79404
HP:0011354	Generalized abnormality of skin	1294	COL7A1	OMIM:604129
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:79408
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:79409
HP:0011354	Generalized abnormality of skin	1294	COL7A1	OMIM:226600
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:158676
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:89842
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:158673
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:79410
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:79411
HP:0011354	Generalized abnormality of skin	1294	COL7A1	OMIM:132000
HP:0011354	Generalized abnormality of skin	1294	COL7A1	ORPHA:231568
HP:0011354	Generalized abnormality of skin	1294	COL7A1	OMIM:131705
HP:0011354	Generalized abnormality of skin	1308	COL17A1	ORPHA:79406
HP:0011354	Generalized abnormality of skin	1308	COL17A1	ORPHA:251393
HP:0011354	Generalized abnormality of skin	113189	CHST14	OMIM:601776
HP:0011354	Generalized abnormality of skin	4312	MMP1	ORPHA:79408
HP:0011354	Generalized abnormality of skin	4312	MMP1	OMIM:226600
HP:0011354	Generalized abnormality of skin	831	CAST	OMIM:616295
HP:0011354	Generalized abnormality of skin	55612	FERMT1	OMIM:173650
HP:0011354	Generalized abnormality of skin	126792	B3GALT6	OMIM:271640
HP:0011354	Generalized abnormality of skin	7389	UROD	ORPHA:95159
HP:0011354	Generalized abnormality of skin	7389	UROD	OMIM:176100
HP:0011354	Generalized abnormality of skin	5159	PDGFRB	OMIM:616592
HP:0011354	Generalized abnormality of skin	23086	EXPH5	OMIM:615028
HP:0011354	Generalized abnormality of skin	3848	KRT1	OMIM:146590
HP:0011354	Generalized abnormality of skin	1371	CPOX	ORPHA:79273
HP:0011354	Generalized abnormality of skin	3077	HFE	OMIM:176100
HP:0011354	Generalized abnormality of skin	3852	KRT5	ORPHA:79396
HP:0011354	Generalized abnormality of skin	3861	KRT14	ORPHA:79396
HP:0011354	Generalized abnormality of skin	7390	UROS	ORPHA:79277
HP:0011354	Generalized abnormality of skin	2623	GATA1	ORPHA:79277
HP:0011354	Generalized abnormality of skin	4221	MEN1	OMIM:131100
HP:0011354	Generalized abnormality of skin	2260	FGFR1	OMIM:613001
HP:0011354	Generalized abnormality of skin	5290	PIK3CA	OMIM:615108
HP:0011354	Generalized abnormality of skin	657	BMPR1A	ORPHA:79076
HP:0011354	Generalized abnormality of skin	1027	CDKN1B	ORPHA:276152
HP:0011354	Generalized abnormality of skin	217	ALDH2	OMIM:610251
HP:0011354	Generalized abnormality of skin	399	RHOH	OMIM:618307
HP:0011354	Generalized abnormality of skin	3785	KCNQ2	ORPHA:439218
HP:0011354	Generalized abnormality of skin	64682	ANAPC1	ORPHA:221008
HP:0011354	Generalized abnormality of skin	84168	ANTXR1	OMIM:230740
HP:0011354	Generalized abnormality of skin	9791	PTDSS1	OMIM:151050
HP:0011354	Generalized abnormality of skin	5205	ATP8B1	OMIM:243300
HP:0011354	Generalized abnormality of skin	8647	ABCB11	OMIM:601847
HP:0011354	Generalized abnormality of skin	28234	SLCO1B3	ORPHA:3111
HP:0011354	Generalized abnormality of skin	10599	SLCO1B1	ORPHA:3111
HP:0011354	Generalized abnormality of skin	6521	SLC4A1	ORPHA:3202
HP:0011354	Generalized abnormality of skin	9780	PIEZO1	ORPHA:3202
HP:0011354	Generalized abnormality of skin	3783	KCNN4	ORPHA:3202
HP:0011354	Generalized abnormality of skin	3717	JAK2	OMIM:133100
HP:0011354	Generalized abnormality of skin	10019	SH2B3	OMIM:133100
HP:0011354	Generalized abnormality of skin	2057	EPOR	OMIM:133100
HP:0011354	Generalized abnormality of skin	7428	VHL	OMIM:263400
HP:0011354	Generalized abnormality of skin	2165	F13B	ORPHA:331
HP:0011354	Generalized abnormality of skin	2162	F13A1	ORPHA:331
HP:0011354	Generalized abnormality of skin	5880	RAC2	ORPHA:183707
HP:0011354	Generalized abnormality of skin	5880	RAC2	OMIM:608203
HP:0011354	Generalized abnormality of skin	3689	ITGB2	OMIM:116920
HP:0011354	Generalized abnormality of skin	84196	USP48	ORPHA:96253
HP:0011354	Generalized abnormality of skin	7157	TP53	ORPHA:96253
HP:0011354	Generalized abnormality of skin	9101	USP8	ORPHA:96253
HP:0011354	Generalized abnormality of skin	9101	USP8	OMIM:219090
HP:0011354	Generalized abnormality of skin	64072	CDH23	ORPHA:96253
HP:0011354	Generalized abnormality of skin	2908	NR3C1	ORPHA:96253
HP:0011354	Generalized abnormality of skin	673	BRAF	ORPHA:96253
HP:0011354	Generalized abnormality of skin	546	ATRX	ORPHA:96253
HP:0011354	Generalized abnormality of skin	3835	KIF22	OMIM:603546
HP:0011354	Generalized abnormality of skin	1277	COL1A1	OMIM:619115
HP:0011354	Generalized abnormality of skin	1277	COL1A1	ORPHA:287
HP:0011354	Generalized abnormality of skin	1277	COL1A1	OMIM:130060
HP:0011354	Generalized abnormality of skin	5351	PLOD1	OMIM:225400
HP:0011354	Generalized abnormality of skin	5351	PLOD1	ORPHA:1900
HP:0011354	Generalized abnormality of skin	2629	GBA1	ORPHA:2072
HP:0011354	Generalized abnormality of skin	165	AEBP1	OMIM:618000
HP:0011354	Generalized abnormality of skin	4803	NGF	ORPHA:64752
HP:0011354	Generalized abnormality of skin	4914	NTRK1	ORPHA:64752
HP:0011354	Generalized abnormality of skin	4914	NTRK1	OMIM:256800
HP:0011354	Generalized abnormality of skin	2157	F8	ORPHA:169802
HP:0011354	Generalized abnormality of skin	4000	LMNA	OMIM:212112
HP:0011354	Generalized abnormality of skin	29940	DSE	OMIM:615539
HP:0011354	Generalized abnormality of skin	2006	ELN	OMIM:123700
HP:0011354	Generalized abnormality of skin	10516	FBLN5	OMIM:219100
HP:0011354	Generalized abnormality of skin	1289	COL5A1	ORPHA:287
HP:0011354	Generalized abnormality of skin	1289	COL5A1	OMIM:130000
HP:0011354	Generalized abnormality of skin	1290	COL5A2	ORPHA:287
HP:0011354	Generalized abnormality of skin	1303	COL12A1	ORPHA:536516
HP:0011354	Generalized abnormality of skin	7148	TNXB	OMIM:606408
HP:0011354	Generalized abnormality of skin	5054	SERPINE1	ORPHA:465
HP:0011354	Generalized abnormality of skin	715	C1R	OMIM:130080
HP:0011354	Generalized abnormality of skin	9509	ADAMTS2	OMIM:225410
HP:0011354	Generalized abnormality of skin	633	BGN	OMIM:300989
HP:0011354	Generalized abnormality of skin	1278	COL1A2	ORPHA:230851
HP:0011354	Generalized abnormality of skin	1278	COL1A2	OMIM:619120
HP:0011354	Generalized abnormality of skin	4921	DDR2	OMIM:618175
HP:0011354	Generalized abnormality of skin	3075	CFH	ORPHA:244242
HP:0011354	Generalized abnormality of skin	3426	CFI	ORPHA:244242
HP:0011354	Generalized abnormality of skin	4179	CD46	ORPHA:244242
HP:0011354	Generalized abnormality of skin	101101692	HELLPAR	ORPHA:244242
HP:0011354	Generalized abnormality of skin	11280	SCN11A	OMIM:615548
HP:0011354	Generalized abnormality of skin	9049	AIP	OMIM:219090
HP:0011354	Generalized abnormality of skin	2697	GJA1	ORPHA:1010
HP:0011354	Generalized abnormality of skin	9731	CEP104	OMIM:619988
HP:0011354	Generalized abnormality of skin	10558	SPTLC1	ORPHA:36386
HP:0011354	Generalized abnormality of skin	25923	ATL3	ORPHA:36386
HP:0011354	Generalized abnormality of skin	9517	SPTLC2	ORPHA:36386
HP:0011354	Generalized abnormality of skin	51062	ATL1	ORPHA:36386
HP:0011354	Generalized abnormality of skin	23474	ETHE1	ORPHA:51188
HP:0011354	Generalized abnormality of skin	23474	ETHE1	OMIM:602473
HP:0011354	Generalized abnormality of skin	8518	ELP1	OMIM:223900
HP:0011354	Generalized abnormality of skin	8518	ELP1	ORPHA:1764
HP:0011354	Generalized abnormality of skin	6197	RPS6KA3	OMIM:303600
HP:0011354	Generalized abnormality of skin	189	AGXT	OMIM:259900
HP:0011354	Generalized abnormality of skin	2517	FUCA1	ORPHA:349
HP:0011354	Generalized abnormality of skin	6925	TCF4	ORPHA:2896
HP:0011354	Generalized abnormality of skin	4598	MVK	ORPHA:343
HP:0011354	Generalized abnormality of skin	11277	TREX1	OMIM:225750
HP:0011354	Generalized abnormality of skin	11277	TREX1	ORPHA:51
HP:0011354	Generalized abnormality of skin	10801	SEPTIN9	ORPHA:2901
HP:0011354	Generalized abnormality of skin	10535	RNASEH2A	ORPHA:51
HP:0011354	Generalized abnormality of skin	84153	RNASEH2C	ORPHA:51
HP:0011354	Generalized abnormality of skin	25939	SAMHD1	ORPHA:51
HP:0011354	Generalized abnormality of skin	79621	RNASEH2B	ORPHA:51
HP:0011354	Generalized abnormality of skin	103	ADAR	ORPHA:51
HP:0011354	Generalized abnormality of skin	100147744	RNU7-1	ORPHA:51
HP:0011354	Generalized abnormality of skin	134353	LSM11	ORPHA:51
HP:0011354	Generalized abnormality of skin	64135	IFIH1	ORPHA:51
HP:0011354	Generalized abnormality of skin	5077	PAX3	ORPHA:896
HP:0011354	Generalized abnormality of skin	175	AGA	OMIM:208400
HP:0011354	Generalized abnormality of skin	2720	GLB1	OMIM:230500
HP:0011354	Generalized abnormality of skin	10559	SLC35A1	ORPHA:238459
HP:0011354	Generalized abnormality of skin	10559	SLC35A1	OMIM:603585
HP:0011354	Generalized abnormality of skin	2048	EPHB2	OMIM:618462
HP:0011354	Generalized abnormality of skin	9213	XPR1	ORPHA:1980
HP:0011354	Generalized abnormality of skin	57462	MYORG	ORPHA:1980
HP:0011354	Generalized abnormality of skin	6575	SLC20A2	ORPHA:1980
HP:0011354	Generalized abnormality of skin	58494	JAM2	ORPHA:1980
HP:0011354	Generalized abnormality of skin	83932	SPRTN	OMIM:616200
HP:0011354	Generalized abnormality of skin	7012	TERC	OMIM:614743
HP:0011354	Generalized abnormality of skin	7012	TERC	OMIM:127550
HP:0011354	Generalized abnormality of skin	7012	TERC	ORPHA:1775
HP:0011354	Generalized abnormality of skin	4644	MYO5A	ORPHA:33445
HP:0011354	Generalized abnormality of skin	4644	MYO5A	ORPHA:79476
HP:0011354	Generalized abnormality of skin	374879	ZNF699	OMIM:619488
HP:0011354	Generalized abnormality of skin	4286	MITF	OMIM:193510
HP:0011354	Generalized abnormality of skin	4286	MITF	ORPHA:897
HP:0011354	Generalized abnormality of skin	4286	MITF	ORPHA:895
HP:0011354	Generalized abnormality of skin	6663	SOX10	OMIM:613266
HP:0011354	Generalized abnormality of skin	6663	SOX10	ORPHA:897
HP:0011354	Generalized abnormality of skin	6663	SOX10	ORPHA:895
HP:0011354	Generalized abnormality of skin	6663	SOX10	ORPHA:163746
HP:0011354	Generalized abnormality of skin	6663	SOX10	OMIM:611584
HP:0011354	Generalized abnormality of skin	1908	EDN3	OMIM:613265
HP:0011354	Generalized abnormality of skin	1908	EDN3	ORPHA:897
HP:0011354	Generalized abnormality of skin	6117	RPA1	OMIM:619767
HP:0011354	Generalized abnormality of skin	1910	EDNRB	OMIM:277580
HP:0011354	Generalized abnormality of skin	1910	EDNRB	ORPHA:897
HP:0011354	Generalized abnormality of skin	1910	EDNRB	ORPHA:895
HP:0011354	Generalized abnormality of skin	7299	TYR	ORPHA:895
HP:0011354	Generalized abnormality of skin	6591	SNAI2	ORPHA:895
HP:0011354	Generalized abnormality of skin	4254	KITLG	ORPHA:895
HP:0011354	Generalized abnormality of skin	4254	KITLG	OMIM:619947
HP:0011354	Generalized abnormality of skin	4193	MDM2	OMIM:618681
HP:0011354	Generalized abnormality of skin	79184	BRCC3	ORPHA:280679
HP:0011354	Generalized abnormality of skin	7020	TFAP2A	OMIM:113620
HP:0011354	Generalized abnormality of skin	7020	TFAP2A	ORPHA:1297
HP:0011354	Generalized abnormality of skin	55651	NHP2	ORPHA:1775
HP:0011354	Generalized abnormality of skin	55135	WRAP53	ORPHA:1775
HP:0011354	Generalized abnormality of skin	55505	NOP10	ORPHA:1775
HP:0011354	Generalized abnormality of skin	7298	TYMS	ORPHA:1775
HP:0011354	Generalized abnormality of skin	8884	SLC5A6	OMIM:619903
HP:0011354	Generalized abnormality of skin	5873	RAB27A	ORPHA:79477
HP:0011354	Generalized abnormality of skin	94	ACVRL1	OMIM:600376
HP:0011354	Generalized abnormality of skin	2022	ENG	OMIM:187300
HP:0011354	Generalized abnormality of skin	54345	SOX18	OMIM:137940
HP:0011354	Generalized abnormality of skin	2074	ERCC6	OMIM:133540
HP:0011354	Generalized abnormality of skin	2200	FBN1	OMIM:154700
HP:0011354	Generalized abnormality of skin	2200	FBN1	OMIM:616914
HP:0011354	Generalized abnormality of skin	26580	BSCL2	OMIM:269700
HP:0011354	Generalized abnormality of skin	26580	BSCL2	ORPHA:363400
HP:0011354	Generalized abnormality of skin	29957	SLC25A24	OMIM:612289
HP:0011354	Generalized abnormality of skin	29957	SLC25A24	ORPHA:2963
HP:0011354	Generalized abnormality of skin	3643	INSR	ORPHA:508
HP:0011354	Generalized abnormality of skin	3643	INSR	ORPHA:769
HP:0011354	Generalized abnormality of skin	857	CAV1	OMIM:612526
HP:0011354	Generalized abnormality of skin	857	CAV1	OMIM:606721
HP:0011354	Generalized abnormality of skin	11128	POLR3A	OMIM:264090
HP:0011354	Generalized abnormality of skin	11128	POLR3A	ORPHA:3455
HP:0011354	Generalized abnormality of skin	256297	PTF1A	OMIM:609069
HP:0011354	Generalized abnormality of skin	10555	AGPAT2	OMIM:608594
HP:0011354	Generalized abnormality of skin	5346	PLIN1	ORPHA:280356
HP:0011354	Generalized abnormality of skin	5468	PPARG	OMIM:604367
HP:0011354	Generalized abnormality of skin	221496	LEMD2	OMIM:619322
HP:0011354	Generalized abnormality of skin	6514	SLC2A2	OMIM:227810
HP:0011354	Generalized abnormality of skin	51305	KCNK9	OMIM:612292
HP:0011354	Generalized abnormality of skin	7156	TOP3A	OMIM:618097
HP:0011354	Generalized abnormality of skin	7043	TGFB3	OMIM:615582
HP:0011354	Generalized abnormality of skin	55131	RBM28	OMIM:612079
HP:0011354	Generalized abnormality of skin	2783	GNB2	OMIM:619503
HP:0011354	Generalized abnormality of skin	3480	IGF1R	OMIM:270450
HP:0011354	Generalized abnormality of skin	1161	ERCC8	OMIM:216400
HP:0011354	Generalized abnormality of skin	25778	DSTYK	OMIM:270750
HP:0011354	Generalized abnormality of skin	11285	B4GALT7	ORPHA:75496
HP:0011354	Generalized abnormality of skin	10804	GJB6	ORPHA:477
HP:0011354	Generalized abnormality of skin	2706	GJB2	ORPHA:477
HP:0011354	Generalized abnormality of skin	8425	LTBP4	OMIM:613177
HP:0011354	Generalized abnormality of skin	10273	STUB1	ORPHA:412057
HP:0011354	Generalized abnormality of skin	8815	BANF1	OMIM:614008
HP:0011354	Generalized abnormality of skin	84823	LMNB2	ORPHA:79087
HP:0011354	Generalized abnormality of skin	25839	COG4	OMIM:618150
HP:0011354	Generalized abnormality of skin	23404	EXOSC2	OMIM:617763
HP:0011354	Generalized abnormality of skin	641	BLM	OMIM:210900
HP:0011354	Generalized abnormality of skin	10664	CTCF	ORPHA:363611
HP:0011354	Generalized abnormality of skin	23446	SLC44A1	OMIM:618868
HP:0011354	Generalized abnormality of skin	5626	PROP1	ORPHA:226307
HP:0011354	Generalized abnormality of skin	89884	LHX4	ORPHA:226307
HP:0011354	Generalized abnormality of skin	8022	LHX3	ORPHA:226307
HP:0011354	Generalized abnormality of skin	5449	POU1F1	ORPHA:226307
HP:0011354	Generalized abnormality of skin	5449	POU1F1	OMIM:613038
HP:0011354	Generalized abnormality of skin	8820	HESX1	ORPHA:226307
HP:0011354	Generalized abnormality of skin	1593	CYP27A1	ORPHA:909
HP:0011354	Generalized abnormality of skin	7167	TPI1	OMIM:615512
HP:0011354	Generalized abnormality of skin	8573	CASK	OMIM:300908
HP:0011354	Generalized abnormality of skin	2539	G6PD	OMIM:300908
HP:0011354	Generalized abnormality of skin	100151683	RNU4ATAC	OMIM:210710
HP:0011354	Generalized abnormality of skin	2584	GALK1	OMIM:230200
HP:0011354	Generalized abnormality of skin	23600	AMACR	OMIM:214950
HP:0011354	Generalized abnormality of skin	8405	SPOP	OMIM:618828
HP:0011354	Generalized abnormality of skin	8085	KMT2D	OMIM:620186
HP:0011354	Generalized abnormality of skin	6609	SMPD1	OMIM:257200
HP:0011354	Generalized abnormality of skin	6718	AKR1D1	ORPHA:79303
HP:0011354	Generalized abnormality of skin	123264	SLC51B	OMIM:619481
HP:0011354	Generalized abnormality of skin	5631	PRPS1	ORPHA:423479
HP:0011354	Generalized abnormality of skin	200894	ARL13B	OMIM:612291
HP:0011354	Generalized abnormality of skin	10525	HYOU1	OMIM:233600
HP:0011354	Generalized abnormality of skin	50506	DUOX2	ORPHA:226316
HP:0011354	Generalized abnormality of skin	50506	DUOX2	ORPHA:95716
HP:0011354	Generalized abnormality of skin	5192	PEX10	OMIM:614871
HP:0011354	Generalized abnormality of skin	55904	KMT2E	OMIM:618512
HP:0011354	Generalized abnormality of skin	182	JAG1	OMIM:118450
HP:0011354	Generalized abnormality of skin	25973	PARS2	OMIM:618437
HP:0011354	Generalized abnormality of skin	11093	ADAMTS13	OMIM:274150
HP:0011354	Generalized abnormality of skin	5189	PEX1	OMIM:214100
HP:0011354	Generalized abnormality of skin	7253	TSHR	ORPHA:90673
HP:0011354	Generalized abnormality of skin	7252	TSHB	ORPHA:90674
HP:0011354	Generalized abnormality of skin	9968	MED12	OMIM:301068
HP:0011354	Generalized abnormality of skin	6005	RHAG	OMIM:185000
HP:0011354	Generalized abnormality of skin	9095	TBX19	ORPHA:199296
HP:0011354	Generalized abnormality of skin	10577	NPC2	OMIM:607625
HP:0011354	Generalized abnormality of skin	6554	SLC10A1	OMIM:619256
HP:0011354	Generalized abnormality of skin	55898	UNC45A	OMIM:619377
HP:0011354	Generalized abnormality of skin	79989	IFT56	OMIM:619534
HP:0011354	Generalized abnormality of skin	537	ATP6AP1	OMIM:300972
HP:0011354	Generalized abnormality of skin	130589	GALM	OMIM:618881
HP:0011354	Generalized abnormality of skin	8565	YARS1	OMIM:619418
HP:0011354	Generalized abnormality of skin	405753	DUOXA2	ORPHA:95716
HP:0011354	Generalized abnormality of skin	6528	SLC5A5	ORPHA:95716
HP:0011354	Generalized abnormality of skin	7038	TG	ORPHA:95716
HP:0011354	Generalized abnormality of skin	7173	TPO	ORPHA:95716
HP:0011354	Generalized abnormality of skin	389434	IYD	ORPHA:95716
HP:0011354	Generalized abnormality of skin	4358	MPV17	OMIM:256810
HP:0011354	Generalized abnormality of skin	84317	CCDC115	OMIM:616828
HP:0011354	Generalized abnormality of skin	4864	NPC1	OMIM:257220
HP:0011354	Generalized abnormality of skin	7201	TRHR	ORPHA:99832
HP:0011354	Generalized abnormality of skin	5313	PKLR	ORPHA:766
HP:0011354	Generalized abnormality of skin	2035	EPB41	ORPHA:288
HP:0011354	Generalized abnormality of skin	2995	GYPC	ORPHA:288
HP:0011354	Generalized abnormality of skin	6710	SPTB	ORPHA:288
HP:0011354	Generalized abnormality of skin	6708	SPTA1	ORPHA:288
HP:0011354	Generalized abnormality of skin	6567	SLC16A2	ORPHA:59
HP:0011354	Generalized abnormality of skin	2688	GH1	OMIM:262400
HP:0011354	Generalized abnormality of skin	146059	CDAN1	OMIM:224120
HP:0011354	Generalized abnormality of skin	54658	UGT1A1	ORPHA:79234
HP:0011354	Generalized abnormality of skin	54658	UGT1A1	ORPHA:79235
HP:0011354	Generalized abnormality of skin	170302	ARX	ORPHA:94083
HP:0011354	Generalized abnormality of skin	55315	SLC29A3	OMIM:602782
HP:0011354	Generalized abnormality of skin	55315	SLC29A3	ORPHA:168569
HP:0011354	Generalized abnormality of skin	1616	DAXX	ORPHA:100075
HP:0011354	Generalized abnormality of skin	55275	VPS53	OMIM:615851
HP:0011354	Generalized abnormality of skin	545	ATR	OMIM:614564
HP:0011354	Generalized abnormality of skin	10093	ARPC4	OMIM:620141
HP:0011354	Generalized abnormality of skin	6595	SMARCA2	OMIM:601358
HP:0011354	Generalized abnormality of skin	6595	SMARCA2	ORPHA:3051
HP:0011354	Generalized abnormality of skin	91949	COG7	OMIM:608779
HP:0011354	Generalized abnormality of skin	91949	COG7	ORPHA:79333
HP:0011354	Generalized abnormality of skin	1281	COL3A1	ORPHA:286
HP:0011354	Generalized abnormality of skin	1281	COL3A1	ORPHA:2500
HP:0011354	Generalized abnormality of skin	5295	PIK3R1	ORPHA:3163
HP:0011354	Generalized abnormality of skin	8367	H4C5	OMIM:619950
HP:0011354	Generalized abnormality of skin	23545	ATP6V0A2	ORPHA:357074
HP:0011354	Generalized abnormality of skin	23545	ATP6V0A2	ORPHA:2834
HP:0011354	Generalized abnormality of skin	23545	ATP6V0A2	OMIM:219200
HP:0011354	Generalized abnormality of skin	523	ATP6V1A	ORPHA:357074
HP:0011354	Generalized abnormality of skin	529	ATP6V1E1	ORPHA:357074
HP:0011354	Generalized abnormality of skin	2261	FGFR3	ORPHA:1860
HP:0011354	Generalized abnormality of skin	5831	PYCR1	OMIM:612940
HP:0011354	Generalized abnormality of skin	5831	PYCR1	OMIM:614438
HP:0011354	Generalized abnormality of skin	5604	MAP2K1	ORPHA:1340
HP:0011354	Generalized abnormality of skin	5605	MAP2K2	ORPHA:1340
HP:0011354	Generalized abnormality of skin	3845	KRAS	ORPHA:1340
HP:0011354	Generalized abnormality of skin	5167	ENPP1	ORPHA:758
HP:0011354	Generalized abnormality of skin	368	ABCC6	ORPHA:758
HP:0011354	Generalized abnormality of skin	9719	ADAMTSL2	ORPHA:1901
HP:0011354	Generalized abnormality of skin	51750	RTEL1	ORPHA:3322
HP:0011354	Generalized abnormality of skin	65057	ACD	ORPHA:3322
HP:0011354	Generalized abnormality of skin	5073	PARN	ORPHA:3322
HP:0011354	Generalized abnormality of skin	7015	TERT	ORPHA:3322
HP:0011354	Generalized abnormality of skin	26277	TINF2	ORPHA:3322
HP:0011354	Generalized abnormality of skin	1736	DKC1	ORPHA:3322
HP:0011354	Generalized abnormality of skin	5781	PTPN11	ORPHA:500
HP:0011354	Generalized abnormality of skin	5894	RAF1	ORPHA:500
HP:0011354	Generalized abnormality of skin	5728	PTEN	ORPHA:137608
HP:0011354	Generalized abnormality of skin	117581	TWIST2	ORPHA:920
HP:0011354	Generalized abnormality of skin	10269	ZMPSTE24	ORPHA:740
HP:0011354	Generalized abnormality of skin	10269	ZMPSTE24	OMIM:275210
HP:0011354	Generalized abnormality of skin	5921	RASA1	ORPHA:90307
HP:0011354	Generalized abnormality of skin	5832	ALDH18A1	OMIM:219150
HP:0011354	Generalized abnormality of skin	10526	IPO8	OMIM:619472
HP:0011354	Generalized abnormality of skin	1080	CFTR	ORPHA:498359
HP:0011354	Generalized abnormality of skin	538	ATP7A	ORPHA:565
HP:0011354	Generalized abnormality of skin	5568	PRKACG	OMIM:616176
HP:0011354	Generalized abnormality of skin	84342	COG8	ORPHA:95428
HP:0011354	Generalized abnormality of skin	2159	F10	ORPHA:328
HP:0011354	Generalized abnormality of skin	2153	F5	ORPHA:326
HP:0011354	Generalized abnormality of skin	79158	GNPTAB	ORPHA:576
HP:0011354	Generalized abnormality of skin	5426	POLE	OMIM:615139
HP:0011354	Generalized abnormality of skin	81031	SLC2A10	OMIM:208050
HP:0011354	Generalized abnormality of skin	4668	NAGA	ORPHA:79280
HP:0011354	Generalized abnormality of skin	4668	NAGA	OMIM:609242
HP:0011354	Generalized abnormality of skin	121391	KRT74	OMIM:614929
HP:0011354	Generalized abnormality of skin	3891	KRT85	OMIM:602032
HP:0011354	Generalized abnormality of skin	4792	NFKBIA	OMIM:612132
HP:0011354	Generalized abnormality of skin	55806	HR	OMIM:209500
HP:0011354	Generalized abnormality of skin	8260	NAA10	OMIM:300855
HP:0011354	Generalized abnormality of skin	22930	RAB3GAP1	ORPHA:1387
HP:0011354	Generalized abnormality of skin	25782	RAB3GAP2	ORPHA:1387
HP:0011354	Generalized abnormality of skin	6804	STX1A	ORPHA:904
HP:0011354	Generalized abnormality of skin	7461	CLIP2	ORPHA:904
HP:0011354	Generalized abnormality of skin	84277	DNAJC30	ORPHA:904
HP:0011354	Generalized abnormality of skin	8468	FKBP6	ORPHA:904
HP:0011354	Generalized abnormality of skin	5982	RFC2	ORPHA:904
HP:0011354	Generalized abnormality of skin	2969	GTF2I	ORPHA:904
HP:0011354	Generalized abnormality of skin	3984	LIMK1	ORPHA:904
HP:0011354	Generalized abnormality of skin	9569	GTF2IRD1	ORPHA:904
HP:0011354	Generalized abnormality of skin	155382	VPS37D	ORPHA:904
HP:0011354	Generalized abnormality of skin	155368	METTL27	ORPHA:904
HP:0011354	Generalized abnormality of skin	114049	BUD23	ORPHA:904
HP:0011354	Generalized abnormality of skin	7458	EIF4H	ORPHA:904
HP:0011354	Generalized abnormality of skin	84163	GTF2IRD2	ORPHA:904
HP:0011354	Generalized abnormality of skin	9275	BCL7B	ORPHA:904
HP:0011354	Generalized abnormality of skin	26608	TBL2	ORPHA:904
HP:0011354	Generalized abnormality of skin	135886	TMEM270	ORPHA:904
HP:0011354	Generalized abnormality of skin	51085	MLXIPL	ORPHA:904
HP:0011354	Generalized abnormality of skin	9031	BAZ1B	ORPHA:904
HP:0011354	Generalized abnormality of skin	1062	CENPE	ORPHA:808
HP:0011354	Generalized abnormality of skin	5116	PCNT	ORPHA:808
HP:0011354	Generalized abnormality of skin	5932	RBBP8	ORPHA:808
HP:0011354	Generalized abnormality of skin	79902	NUP85	ORPHA:808
HP:0011354	Generalized abnormality of skin	84126	ATRIP	ORPHA:808
HP:0011354	Generalized abnormality of skin	55835	CENPJ	ORPHA:808
HP:0011354	Generalized abnormality of skin	10293	TRAIP	ORPHA:808
HP:0011354	Generalized abnormality of skin	22995	CEP152	ORPHA:808
HP:0011354	Generalized abnormality of skin	10733	PLK4	ORPHA:808
HP:0011354	Generalized abnormality of skin	7486	WRN	ORPHA:902
HP:0011354	Generalized abnormality of skin	7486	WRN	OMIM:277700
HP:0011354	Generalized abnormality of skin	10651	MTX2	ORPHA:90153
HP:0011354	Generalized abnormality of skin	2690	GHR	ORPHA:633
HP:0011354	Generalized abnormality of skin	22808	MRAS	OMIM:618499
HP:0011354	Generalized abnormality of skin	8216	LZTR1	OMIM:616564
HP:0011354	Generalized abnormality of skin	8216	LZTR1	OMIM:605275
HP:0011354	Generalized abnormality of skin	6016	RIT1	OMIM:615355
HP:0011354	Generalized abnormality of skin	2263	FGFR2	OMIM:123790
HP:0011354	Generalized abnormality of skin	26227	PHGDH	OMIM:256520
HP:0011354	Generalized abnormality of skin	526	ATP6V1B2	OMIM:124480
HP:0011354	Generalized abnormality of skin	5373	PMM2	ORPHA:79318
HP:0011354	Generalized abnormality of skin	5373	PMM2	OMIM:212065
HP:0011354	Generalized abnormality of skin	7040	TGFB1	ORPHA:1328
HP:0011354	Generalized abnormality of skin	79718	TBL1XR1	ORPHA:487825
HP:0011354	Generalized abnormality of skin	207	AKT1	ORPHA:744
HP:0011354	Generalized abnormality of skin	8074	FGF23	OMIM:617993
HP:0011354	Generalized abnormality of skin	5702	PSMC3	OMIM:619354
HP:0011354	Generalized abnormality of skin	80169	CTC1	OMIM:612199
HP:0011354	Generalized abnormality of skin	2483	FRG1	OMIM:158900
HP:0011354	Generalized abnormality of skin	79991	STN1	OMIM:617341
HP:0011354	Generalized abnormality of skin	4536	MT-ND2	ORPHA:104
HP:0011354	Generalized abnormality of skin	4720	NDUFS2	ORPHA:104
HP:0011354	Generalized abnormality of skin	4519	MT-CYB	ORPHA:104
HP:0011354	Generalized abnormality of skin	4508	MT-ATP6	ORPHA:104
HP:0011354	Generalized abnormality of skin	4539	MT-ND4L	ORPHA:104
HP:0011354	Generalized abnormality of skin	4558	MT-TF	ORPHA:550
HP:0011354	Generalized abnormality of skin	4572	MT-TQ	ORPHA:550
HP:0011354	Generalized abnormality of skin	4512	MT-CO1	ORPHA:550
HP:0011354	Generalized abnormality of skin	4513	MT-CO2	ORPHA:550
HP:0011354	Generalized abnormality of skin	4514	MT-CO3	ORPHA:550
HP:0011354	Generalized abnormality of skin	4578	MT-TW	ORPHA:550
HP:0011354	Generalized abnormality of skin	4540	MT-ND5	ORPHA:550
HP:0011354	Generalized abnormality of skin	4541	MT-ND6	ORPHA:550
HP:0011354	Generalized abnormality of skin	4535	MT-ND1	ORPHA:550
HP:0011354	Generalized abnormality of skin	4538	MT-ND4	ORPHA:550
HP:0011354	Generalized abnormality of skin	4567	MT-TL1	ORPHA:550
HP:0011354	Generalized abnormality of skin	4574	MT-TS1	ORPHA:550
HP:0011354	Generalized abnormality of skin	4575	MT-TS2	ORPHA:550
HP:0011354	Generalized abnormality of skin	4564	MT-TH	ORPHA:550
HP:0011354	Generalized abnormality of skin	2235	FECH	OMIM:177000
HP:0011354	Generalized abnormality of skin	2235	FECH	ORPHA:79278
HP:0011354	Generalized abnormality of skin	3858	KRT10	OMIM:607602
HP:0011354	Generalized abnormality of skin	3119	HLA-DQB1	ORPHA:703
HP:0011354	Generalized abnormality of skin	3123	HLA-DRB1	ORPHA:703
HP:0011354	Generalized abnormality of skin	7518	XRCC4	ORPHA:99812
HP:0011354	Generalized abnormality of skin	3981	LIG4	ORPHA:99812
HP:0011354	Generalized abnormality of skin	362	AQP5	ORPHA:2337
HP:0011354	Generalized abnormality of skin	7512	XPNPEP2	ORPHA:100057
HP:0011354	Generalized abnormality of skin	55630	SLC39A4	ORPHA:37
HP:0011354	Generalized abnormality of skin	7051	TGM1	ORPHA:281127
HP:0011354	Generalized abnormality of skin	224	ALDH3A2	ORPHA:816
HP:0011354	Generalized abnormality of skin	51360	MBTPS2	ORPHA:659
HP:0011354	Generalized abnormality of skin	51360	MBTPS2	ORPHA:2273
HP:0011354	Generalized abnormality of skin	162514	TRPV3	ORPHA:659
HP:0011354	Generalized abnormality of skin	64065	PERP	ORPHA:659
HP:0011354	Generalized abnormality of skin	7132	TNFRSF1A	ORPHA:32960
HP:0011354	Generalized abnormality of skin	5155	PDGFB	ORPHA:31112
HP:0011354	Generalized abnormality of skin	27032	ATP2C1	ORPHA:2841
HP:0011354	Generalized abnormality of skin	27032	ATP2C1	OMIM:169600
HP:0011354	Generalized abnormality of skin	6868	ADAM17	ORPHA:294023
HP:0011354	Generalized abnormality of skin	1956	EGFR	ORPHA:294023
HP:0011354	Generalized abnormality of skin	3849	KRT2	ORPHA:455
HP:0011354	Generalized abnormality of skin	3106	HLA-B	ORPHA:36426
HP:0011354	Generalized abnormality of skin	10320	IKZF1	ORPHA:36426
HP:0011354	Generalized abnormality of skin	114548	NLRP3	ORPHA:47045
HP:0011354	Generalized abnormality of skin	6336	SCN10A	ORPHA:90026
HP:0011354	Generalized abnormality of skin	50814	NSDHL	OMIM:308050
HP:0011354	Generalized abnormality of skin	340061	STING1	OMIM:615934
HP:0011354	Generalized abnormality of skin	26525	IL36RN	OMIM:614204
HP:0011354	Generalized abnormality of skin	54539	NDUFB11	ORPHA:2556
HP:0011354	Generalized abnormality of skin	1349	COX7B	ORPHA:2556
HP:0011354	Generalized abnormality of skin	3052	HCCS	ORPHA:2556
HP:0011354	Generalized abnormality of skin	56984	PSMG2	OMIM:619183
HP:0011354	Generalized abnormality of skin	9401	RECQL4	OMIM:218600
HP:0011354	Generalized abnormality of skin	9401	RECQL4	ORPHA:221016
HP:0011354	Generalized abnormality of skin	1508	CTSB	ORPHA:50943
HP:0011354	Generalized abnormality of skin	1508	CTSB	OMIM:148370
HP:0011354	Generalized abnormality of skin	84818	IL17RC	ORPHA:1334
HP:0011354	Generalized abnormality of skin	64581	CLEC7A	ORPHA:1334
HP:0011354	Generalized abnormality of skin	23765	IL17RA	ORPHA:1334
HP:0011354	Generalized abnormality of skin	10758	TRAF3IP2	ORPHA:1334
HP:0011354	Generalized abnormality of skin	112744	IL17F	ORPHA:1334
HP:0011354	Generalized abnormality of skin	6785	ELOVL4	OMIM:614457
HP:0011354	Generalized abnormality of skin	2752	GLUL	OMIM:610015
HP:0011354	Generalized abnormality of skin	2707	GJB3	ORPHA:317
HP:0011354	Generalized abnormality of skin	2531	KDSR	ORPHA:317
HP:0011354	Generalized abnormality of skin	2531	KDSR	ORPHA:316
HP:0011354	Generalized abnormality of skin	2531	KDSR	OMIM:617526
HP:0011354	Generalized abnormality of skin	127534	GJB4	ORPHA:317
HP:0011354	Generalized abnormality of skin	127534	GJB4	OMIM:617524
HP:0011354	Generalized abnormality of skin	9487	PIGL	ORPHA:3474
HP:0011354	Generalized abnormality of skin	9333	TGM5	OMIM:609796
HP:0011354	Generalized abnormality of skin	9333	TGM5	ORPHA:263534
HP:0011354	Generalized abnormality of skin	1174	AP1S1	OMIM:609313
HP:0011354	Generalized abnormality of skin	4210	MEFV	OMIM:608068
HP:0011354	Generalized abnormality of skin	4210	MEFV	ORPHA:342
HP:0011354	Generalized abnormality of skin	54795	TRPM4	ORPHA:316
HP:0011354	Generalized abnormality of skin	4014	LORICRIN	ORPHA:316
HP:0011354	Generalized abnormality of skin	3889	KRT83	ORPHA:316
HP:0011354	Generalized abnormality of skin	242	ALOX12B	OMIM:242100
HP:0011354	Generalized abnormality of skin	59344	ALOXE3	OMIM:242100
HP:0011354	Generalized abnormality of skin	59344	ALOXE3	OMIM:606545
HP:0011354	Generalized abnormality of skin	6820	SULT2B1	OMIM:617571
HP:0011354	Generalized abnormality of skin	64840	PORCN	ORPHA:2092
HP:0011354	Generalized abnormality of skin	4035	LRP1	OMIM:604093
HP:0011354	Generalized abnormality of skin	4035	LRP1	ORPHA:79100
HP:0011354	Generalized abnormality of skin	5184	PEPD	ORPHA:742
HP:0011354	Generalized abnormality of skin	8517	IKBKG	ORPHA:464
HP:0011354	Generalized abnormality of skin	8517	IKBKG	OMIM:308300
HP:0011354	Generalized abnormality of skin	6774	STAT3	OMIM:147060
HP:0011354	Generalized abnormality of skin	57152	SLURP1	ORPHA:87503
HP:0011354	Generalized abnormality of skin	643418	LIPN	OMIM:613943
HP:0011354	Generalized abnormality of skin	147409	DSG4	OMIM:607903
HP:0011354	Generalized abnormality of skin	55739	NAXD	OMIM:618321
HP:0011354	Generalized abnormality of skin	64377	CHST8	OMIM:616265
HP:0011354	Generalized abnormality of skin	64127	NOD2	ORPHA:90340
HP:0011354	Generalized abnormality of skin	710	SERPING1	OMIM:106100
HP:0011354	Generalized abnormality of skin	1475	CSTA	ORPHA:263534
HP:0011354	Generalized abnormality of skin	667	DST	OMIM:614653
HP:0011354	Generalized abnormality of skin	5696	PSMB8	OMIM:256040
HP:0011354	Generalized abnormality of skin	1493	CTLA4	ORPHA:2584
HP:0011354	Generalized abnormality of skin	940	CD28	ORPHA:2584
HP:0011354	Generalized abnormality of skin	7133	TNFRSF1B	ORPHA:2584
HP:0011354	Generalized abnormality of skin	11235	PDCD10	ORPHA:221061
HP:0011354	Generalized abnormality of skin	889	KRIT1	ORPHA:221061
HP:0011354	Generalized abnormality of skin	4953	ODC1	ORPHA:544488
HP:0011354	Generalized abnormality of skin	11146	GLMN	ORPHA:83454
HP:0011354	Generalized abnormality of skin	3458	IFNG	ORPHA:805
HP:0011354	Generalized abnormality of skin	7248	TSC1	ORPHA:805
HP:0011354	Generalized abnormality of skin	7249	TSC2	ORPHA:805
HP:0011354	Generalized abnormality of skin	56983	POGLUT1	ORPHA:79145
HP:0011354	Generalized abnormality of skin	23509	POFUT1	ORPHA:79145
HP:0011354	Generalized abnormality of skin	55851	PSENEN	ORPHA:79145
HP:0011354	Generalized abnormality of skin	11198	SUPT16H	OMIM:619480
HP:0011354	Generalized abnormality of skin	10999	SLC27A4	OMIM:608649
HP:0011354	Generalized abnormality of skin	23534	TNPO3	ORPHA:186
HP:0011354	Generalized abnormality of skin	3592	IL12A	ORPHA:186
HP:0011354	Generalized abnormality of skin	6689	SPIB	ORPHA:186
HP:0011354	Generalized abnormality of skin	5450	POU2AF1	ORPHA:186
HP:0011354	Generalized abnormality of skin	9966	TNFSF15	ORPHA:186
HP:0011354	Generalized abnormality of skin	79258	MMEL1	ORPHA:186
HP:0011354	Generalized abnormality of skin	3663	IRF5	ORPHA:186
HP:0011354	Generalized abnormality of skin	5566	PRKACA	OMIM:615830
HP:0011354	Generalized abnormality of skin	5566	PRKACA	ORPHA:189439
HP:0011354	Generalized abnormality of skin	79798	ARMC5	ORPHA:189427
HP:0011354	Generalized abnormality of skin	2778	GNAS	ORPHA:189427
HP:0011354	Generalized abnormality of skin	8622	PDE8B	ORPHA:189439
HP:0011354	Generalized abnormality of skin	5573	PRKAR1A	ORPHA:189439
HP:0011354	Generalized abnormality of skin	5573	PRKAR1A	ORPHA:1359
HP:0011354	Generalized abnormality of skin	50940	PDE11A	ORPHA:189439
HP:0011354	Generalized abnormality of skin	50940	PDE11A	ORPHA:1359
HP:0011354	Generalized abnormality of skin	7840	ALMS1	ORPHA:64
HP:0011354	Generalized abnormality of skin	93587	TRMT10A	ORPHA:391408
HP:0011354	Generalized abnormality of skin	93587	TRMT10A	OMIM:616033
HP:0011354	Generalized abnormality of skin	84919	PPP1R15B	ORPHA:391408
HP:0011354	Generalized abnormality of skin	2702	GJA5	OMIM:612474
HP:0011354	Generalized abnormality of skin	2703	GJA8	OMIM:612474
HP:0011354	Generalized abnormality of skin	7286	TUFT1	OMIM:607655
HP:0011354	Generalized abnormality of skin	80326	WNT10A	OMIM:257980
HP:0011354	Generalized abnormality of skin	4693	NDP	ORPHA:891
HP:0011354	Generalized abnormality of skin	1499	CTNNB1	ORPHA:891
HP:0011354	Generalized abnormality of skin	23554	TSPAN12	ORPHA:891
HP:0011354	Generalized abnormality of skin	4041	LRP5	ORPHA:891
HP:0011354	Generalized abnormality of skin	79797	ZNF408	ORPHA:891
HP:0011354	Generalized abnormality of skin	8322	FZD4	ORPHA:891
HP:0011354	Generalized abnormality of skin	2642	GCGR	ORPHA:438274
HP:0011354	Generalized abnormality of skin	5979	RET	OMIM:162300
HP:0011354	Generalized abnormality of skin	5979	RET	ORPHA:29072
HP:0011354	Generalized abnormality of skin	5979	RET	ORPHA:276621
HP:0011354	Generalized abnormality of skin	171023	ASXL1	ORPHA:98850
HP:0011354	Generalized abnormality of skin	171023	ASXL1	ORPHA:98849
HP:0011354	Generalized abnormality of skin	54790	TET2	ORPHA:98850
HP:0011354	Generalized abnormality of skin	54790	TET2	ORPHA:98849
HP:0011354	Generalized abnormality of skin	867	CBL	ORPHA:98850
HP:0011354	Generalized abnormality of skin	861	RUNX1	ORPHA:98850
HP:0011354	Generalized abnormality of skin	6427	SRSF2	ORPHA:98850
HP:0011354	Generalized abnormality of skin	6427	SRSF2	ORPHA:98849
HP:0011354	Generalized abnormality of skin	4128	MAOA	OMIM:300615
HP:0011354	Generalized abnormality of skin	1743	DLST	ORPHA:29072
HP:0011354	Generalized abnormality of skin	4191	MDH2	ORPHA:29072
HP:0011354	Generalized abnormality of skin	6389	SDHA	ORPHA:29072
HP:0011354	Generalized abnormality of skin	23095	KIF1B	ORPHA:29072
HP:0011354	Generalized abnormality of skin	2271	FH	ORPHA:29072
HP:0011354	Generalized abnormality of skin	8402	SLC25A11	ORPHA:29072
HP:0011354	Generalized abnormality of skin	54949	SDHAF2	ORPHA:29072
HP:0011354	Generalized abnormality of skin	55654	TMEM127	ORPHA:29072
HP:0011354	Generalized abnormality of skin	4763	NF1	ORPHA:29072
HP:0011354	Generalized abnormality of skin	6391	SDHC	ORPHA:29072
HP:0011354	Generalized abnormality of skin	6392	SDHD	ORPHA:29072
HP:0011354	Generalized abnormality of skin	6392	SDHD	ORPHA:276621
HP:0011354	Generalized abnormality of skin	6390	SDHB	ORPHA:29072
HP:0011354	Generalized abnormality of skin	6390	SDHB	ORPHA:276621
HP:0011354	Generalized abnormality of skin	4149	MAX	ORPHA:29072
HP:0011354	Generalized abnormality of skin	3815	KIT	ORPHA:98849
HP:0011354	Generalized abnormality of skin	3815	KIT	ORPHA:79455
HP:0011354	Generalized abnormality of skin	773	CACNA1A	ORPHA:2131
HP:0011354	Generalized abnormality of skin	6507	SLC1A3	ORPHA:2131
HP:0011354	Generalized abnormality of skin	477	ATP1A2	ORPHA:2131
HP:0011354	Generalized abnormality of skin	478	ATP1A3	ORPHA:2131
HP:0011354	Generalized abnormality of skin	6335	SCN9A	OMIM:167400
HP:0011354	Generalized abnormality of skin	1788	DNMT3A	ORPHA:276621
HP:0011354	Generalized abnormality of skin	2034	EPAS1	ORPHA:276621
HP:0011354	Generalized abnormality of skin	6261	RYR1	ORPHA:466650
HP:0011354	Generalized abnormality of skin	3248	HPGD	OMIM:259100
HP:0011354	Generalized abnormality of skin	8131	NPRL3	ORPHA:98820
HP:0011354	Generalized abnormality of skin	10641	NPRL2	ORPHA:98820
HP:0011354	Generalized abnormality of skin	9681	DEPDC5	ORPHA:98820
HP:0011354	Generalized abnormality of skin	64324	NSD1	ORPHA:821
HP:0011354	Generalized abnormality of skin	29072	SETD2	ORPHA:821
HP:0011354	Generalized abnormality of skin	10297	APC2	ORPHA:821
HP:0011354	Generalized abnormality of skin	3172	HNF4A	OMIM:125850
HP:0011354	Generalized abnormality of skin	30817	ADGRE2	OMIM:125630
HP:0011354	Generalized abnormality of skin	51119	SBDS	ORPHA:88
HP:0011354	Generalized abnormality of skin	3786	KCNQ3	ORPHA:1949
HP:0011354	Generalized abnormality of skin	6720	SREBF1	OMIM:619016
HP:0011354	Generalized abnormality of skin	23590	PDSS1	OMIM:614651
HP:0011354	Generalized abnormality of skin	51816	ADA2	OMIM:182410
HP:0011354	Generalized abnormality of skin	4629	MYH11	OMIM:132900
HP:0011354	Generalized abnormality of skin	59	ACTA2	OMIM:611788
HP:0011354	Generalized abnormality of skin	2982	GUCY1A1	OMIM:615750
HP:0011354	Generalized abnormality of skin	171019	ADAMTS19	OMIM:620067
HP:0011354	Generalized abnormality of skin	205717	USF3	ORPHA:201
HP:0011354	Generalized abnormality of skin	100144748	KLLN	ORPHA:201
HP:0011354	Generalized abnormality of skin	55699	IARS2	OMIM:616007
HP:0011354	Generalized abnormality of skin	1540	CYLD	ORPHA:867
HP:0011354	Generalized abnormality of skin	1540	CYLD	ORPHA:211
HP:0011354	Generalized abnormality of skin	1235	CCR6	ORPHA:220402
HP:0011354	Generalized abnormality of skin	1235	CCR6	ORPHA:220393
HP:0011354	Generalized abnormality of skin	79932	KIAA0319L	ORPHA:220402
HP:0011354	Generalized abnormality of skin	1490	CCN2	ORPHA:220402
HP:0011354	Generalized abnormality of skin	1490	CCN2	ORPHA:220393
HP:0011354	Generalized abnormality of skin	11322	TMC6	ORPHA:302
HP:0011354	Generalized abnormality of skin	3574	IL7	ORPHA:302
HP:0011354	Generalized abnormality of skin	147138	TMC8	ORPHA:302
HP:0011354	Generalized abnormality of skin	10519	CIB1	ORPHA:302
HP:0011354	Generalized abnormality of skin	63916	ELMO2	ORPHA:3019
HP:0011354	Generalized abnormality of skin	5424	POLD1	OMIM:615381
HP:0011354	Generalized abnormality of skin	5340	PLG	OMIM:619360
HP:0011354	Generalized abnormality of skin	1369	CPN1	OMIM:212070
HP:0011354	Generalized abnormality of skin	284	ANGPT1	OMIM:619361
HP:0011354	Generalized abnormality of skin	26509	MYOF	OMIM:619366
HP:0011354	Generalized abnormality of skin	64711	HS3ST6	OMIM:619367
HP:0011354	Generalized abnormality of skin	3827	KNG1	OMIM:619363
HP:0011354	Generalized abnormality of skin	11005	SPINK5	OMIM:256500
HP:0011354	Generalized abnormality of skin	1776	DNASE1L3	ORPHA:36412
HP:0011354	Generalized abnormality of skin	2161	F12	OMIM:610618
HP:0011354	Generalized abnormality of skin	3763	KCNJ6	ORPHA:435628
HP:0011354	Generalized abnormality of skin	10466	COG5	ORPHA:263487
HP:0011354	Generalized abnormality of skin	51116	MRPS2	OMIM:617950
HP:0011354	Generalized abnormality of skin	1861	TOR1A	OMIM:618947
HP:0011354	Generalized abnormality of skin	92344	GORAB	OMIM:231070
HP:0011354	Generalized abnormality of skin	6513	SLC2A1	ORPHA:1942
HP:0011354	Generalized abnormality of skin	1173	AP2M1	ORPHA:1942
HP:0011354	Generalized abnormality of skin	6323	SCN1A	ORPHA:1942
HP:0011354	Generalized abnormality of skin	340533	NEXMIF	ORPHA:1942
HP:0011354	Generalized abnormality of skin	1106	CHD2	ORPHA:1942
HP:0011354	Generalized abnormality of skin	6529	SLC6A1	ORPHA:1942
HP:0011354	Generalized abnormality of skin	79053	ALG8	ORPHA:79325
HP:0011354	Generalized abnormality of skin	6888	TALDO1	ORPHA:101028
HP:0011354	Generalized abnormality of skin	3977	LIFR	OMIM:601559
HP:0011354	Generalized abnormality of skin	6850	SYK	OMIM:619381
HP:0011354	Generalized abnormality of skin	5238	PGM3	ORPHA:443811
HP:0011354	Generalized abnormality of skin	5238	PGM3	OMIM:615816
HP:0011354	Generalized abnormality of skin	10095	ARPC1B	OMIM:617718
HP:0011354	Generalized abnormality of skin	3594	IL12RB1	ORPHA:319552
HP:0011354	Generalized abnormality of skin	29968	PSAT1	ORPHA:284417
HP:0011354	Generalized abnormality of skin	29968	PSAT1	OMIM:610992
HP:0011354	Generalized abnormality of skin	2554	GABRA1	ORPHA:33069
HP:0011354	Generalized abnormality of skin	6324	SCN1B	ORPHA:33069
HP:0011354	Generalized abnormality of skin	57526	PCDH19	ORPHA:33069
HP:0011354	Generalized abnormality of skin	2566	GABRG2	ORPHA:33069
HP:0011354	Generalized abnormality of skin	5336	PLCG2	OMIM:614468
HP:0011354	Generalized abnormality of skin	146206	CARMIL2	OMIM:618131
HP:0011353	Arterial intimal fibrosis	659	BMPR2	OMIM:178600
HP:0011352	Severe receptive language delay	2782	GNB1	OMIM:616973
HP:0011351	Moderate receptive language delay	25970	SH2B1	ORPHA:261222
HP:0011351	Moderate receptive language delay	25970	SH2B1	ORPHA:261197
HP:0011351	Moderate receptive language delay	79813	EHMT1	ORPHA:261652
HP:0011351	Moderate receptive language delay	58508	KMT2C	ORPHA:261652
HP:0008301	Dermatan sulfate excretion in urine	2990	GUSB	OMIM:253220
HP:0008301	Dermatan sulfate excretion in urine	3423	IDS	ORPHA:217085
HP:0008301	Dermatan sulfate excretion in urine	3423	IDS	OMIM:309900
HP:0008301	Dermatan sulfate excretion in urine	3423	IDS	ORPHA:217093
HP:0008301	Dermatan sulfate excretion in urine	3425	IDUA	OMIM:607014
HP:0008301	Dermatan sulfate excretion in urine	3425	IDUA	OMIM:607015
HP:0008301	Dermatan sulfate excretion in urine	153642	ARSK	OMIM:619698
HP:0008301	Dermatan sulfate excretion in urine	411	ARSB	OMIM:253200
HP:0001140	Limbal dermoid	2260	FGFR1	OMIM:613001
HP:0001140	Limbal dermoid	3845	KRAS	ORPHA:3339
HP:0001140	Limbal dermoid	3845	KRAS	OMIM:600268
HP:0001140	Limbal dermoid	207	AKT1	OMIM:176920
HP:0001140	Limbal dermoid	5728	PTEN	ORPHA:2969
HP:0001140	Limbal dermoid	6299	SALL1	ORPHA:857
HP:0001140	Limbal dermoid	51339	DACT1	ORPHA:857
HP:0001140	Limbal dermoid	10992	SF3B2	OMIM:164210
HP:0001142	Lenticonus	1410	CRYAB	OMIM:613763
HP:0001142	Lenticonus	5961	PRPH2	ORPHA:52427
HP:0001142	Lenticonus	6017	RLBP1	ORPHA:52427
HP:0001142	Lenticonus	6010	RHO	ORPHA:52427
HP:0001142	Lenticonus	5959	RDH5	ORPHA:52427
HP:0001142	Lenticonus	1285	COL4A3	OMIM:104200
HP:0001142	Lenticonus	1287	COL4A5	OMIM:301050
HP:0001142	Lenticonus	1286	COL4A4	OMIM:203780
HP:0001142	Lenticonus	1288	COL4A6	ORPHA:1018
HP:0001142	Lenticonus	3913	LAMB2	OMIM:609049
HP:0007633	Bilateral microphthalmos	5727	PTCH1	OMIM:610828
HP:0007633	Bilateral microphthalmos	22827	PUF60	ORPHA:508488
HP:0007633	Bilateral microphthalmos	9896	FIG4	ORPHA:3472
HP:0007633	Bilateral microphthalmos	55697	VAC14	ORPHA:3472
HP:0007633	Bilateral microphthalmos	6949	TCOF1	OMIM:154500
HP:0007633	Bilateral microphthalmos	5080	PAX6	ORPHA:2334
HP:0007633	Bilateral microphthalmos	6650	CAPN15	OMIM:619318
HP:0007633	Bilateral microphthalmos	9573	GDF3	OMIM:613703
HP:0007633	Bilateral microphthalmos	392255	GDF6	OMIM:613703
HP:0007633	Bilateral microphthalmos	404672	GTF2H5	ORPHA:33364
HP:0007633	Bilateral microphthalmos	833	CARS1	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2068	ERCC2	ORPHA:33364
HP:0007633	Bilateral microphthalmos	7737	RNF113A	ORPHA:33364
HP:0007633	Bilateral microphthalmos	136647	MPLKIP	ORPHA:33364
HP:0007633	Bilateral microphthalmos	6897	TARS1	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2071	ERCC3	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2961	GTF2E2	ORPHA:33364
HP:0007633	Bilateral microphthalmos	25914	RTTN	ORPHA:468631
HP:0007633	Bilateral microphthalmos	23389	MED13L	ORPHA:369891
HP:0007633	Bilateral microphthalmos	2067	ERCC1	OMIM:610758
HP:0007633	Bilateral microphthalmos	80144	FRAS1	OMIM:219000
HP:0007633	Bilateral microphthalmos	63901	FAM111A	ORPHA:93325
HP:0007633	Bilateral microphthalmos	64220	STRA6	OMIM:601186
HP:0007633	Bilateral microphthalmos	6469	SHH	OMIM:611638
HP:0001144	Orbital cyst	652	BMP4	OMIM:607932
HP:0001144	Orbital cyst	5076	PAX2	OMIM:120330
HP:0001144	Orbital cyst	5727	PTCH1	OMIM:109400
HP:0001144	Orbital cyst	5075	PAX1	OMIM:615560
HP:0000532	Abnormal chorioretinal morphology	3030	HADHA	ORPHA:5
HP:0000532	Abnormal chorioretinal morphology	3105	HLA-A	ORPHA:179
HP:0000532	Abnormal chorioretinal morphology	84314	TMEM107	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	26123	TCTN3	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79867	TCTN2	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	80776	B9D2	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79600	TCTN1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	57096	RPGRIP1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79848	CSPP1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	80184	CEP290	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	51259	TMEM216	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	57545	CC2D2A	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79583	TMEM231	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	91147	TMEM67	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79770	TXNDC15	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	27077	B9D1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	23322	RPGRIP1L	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	54903	MKS1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	65062	TMEM237	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	55670	PEX26	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5824	PEX19	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5828	PEX2	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	8504	PEX3	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	8799	PEX11B	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	9409	PEX16	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5190	PEX6	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5830	PEX5	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5189	PEX1	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5193	PEX12	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5194	PEX13	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5195	PEX14	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5192	PEX10	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	4693	NDP	ORPHA:649
HP:0000532	Abnormal chorioretinal morphology	4567	MT-TL1	ORPHA:225
HP:0000532	Abnormal chorioretinal morphology	4556	MT-TE	ORPHA:225
HP:0000532	Abnormal chorioretinal morphology	4566	MT-TK	ORPHA:225
HP:0000532	Abnormal chorioretinal morphology	5456	POU3F4	ORPHA:1435
HP:0000532	Abnormal chorioretinal morphology	346007	EYS	OMIM:602772
HP:0000532	Abnormal chorioretinal morphology	1499	CTNNB1	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	23554	TSPAN12	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	4041	LRP5	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	79797	ZNF408	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	79797	ZNF408	OMIM:616468
HP:0000532	Abnormal chorioretinal morphology	8322	FZD4	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	25794	FSCN2	OMIM:607921
HP:0000532	Abnormal chorioretinal morphology	1181	CLCN2	OMIM:615651
HP:0000532	Abnormal chorioretinal morphology	54820	NDE1	ORPHA:2177
HP:0000532	Abnormal chorioretinal morphology	6295	SAG	OMIM:613758
HP:0000532	Abnormal chorioretinal morphology	1406	CRX	OMIM:120970
HP:0000532	Abnormal chorioretinal morphology	6094	ROM1	OMIM:608133
HP:0000532	Abnormal chorioretinal morphology	5076	PAX2	OMIM:120330
HP:0000532	Abnormal chorioretinal morphology	80781	COL18A1	OMIM:267750
HP:0000532	Abnormal chorioretinal morphology	9227	LRAT	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	55812	SPATA7	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	6121	RPE65	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	6121	RPE65	OMIM:618697
HP:0000532	Abnormal chorioretinal morphology	167691	LCA5	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	3845	KRAS	OMIM:600268
HP:0000532	Abnormal chorioretinal morphology	100147744	RNU7-1	OMIM:619487
HP:0000532	Abnormal chorioretinal morphology	182	JAG1	OMIM:118450
HP:0000532	Abnormal chorioretinal morphology	1462	VCAN	OMIM:143200
HP:0000532	Abnormal chorioretinal morphology	60	ACTB	OMIM:243310
HP:0000532	Abnormal chorioretinal morphology	57167	SALL4	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	57167	SALL4	ORPHA:959
HP:0000532	Abnormal chorioretinal morphology	9935	MAFB	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	1123	CHN1	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	64840	PORCN	OMIM:305600
HP:0000532	Abnormal chorioretinal morphology	64840	PORCN	ORPHA:2092
HP:0000532	Abnormal chorioretinal morphology	8260	NAA10	OMIM:309800
HP:0000532	Abnormal chorioretinal morphology	8260	NAA10	ORPHA:568
HP:0000532	Abnormal chorioretinal morphology	54880	BCOR	OMIM:309800
HP:0000532	Abnormal chorioretinal morphology	54880	BCOR	ORPHA:568
HP:0000532	Abnormal chorioretinal morphology	6711	SPTBN1	OMIM:619475
HP:0000532	Abnormal chorioretinal morphology	56623	INPP5E	OMIM:213300
HP:0000532	Abnormal chorioretinal morphology	56623	INPP5E	ORPHA:1454
HP:0000532	Abnormal chorioretinal morphology	10413	YAP1	OMIM:120433
HP:0000532	Abnormal chorioretinal morphology	10413	YAP1	ORPHA:1473
HP:0000532	Abnormal chorioretinal morphology	9839	ZEB2	OMIM:235730
HP:0000532	Abnormal chorioretinal morphology	6469	SHH	OMIM:611638
HP:0000532	Abnormal chorioretinal morphology	5728	PTEN	ORPHA:744
HP:0000532	Abnormal chorioretinal morphology	207	AKT1	ORPHA:744
HP:0000532	Abnormal chorioretinal morphology	79759	ZNF668	OMIM:620194
HP:0000532	Abnormal chorioretinal morphology	6299	SALL1	OMIM:107480
HP:0000532	Abnormal chorioretinal morphology	6299	SALL1	ORPHA:857
HP:0000532	Abnormal chorioretinal morphology	64412	GZF1	OMIM:617662
HP:0000532	Abnormal chorioretinal morphology	3149	HMGB3	OMIM:300915
HP:0000532	Abnormal chorioretinal morphology	51339	DACT1	ORPHA:857
HP:0000532	Abnormal chorioretinal morphology	9573	GDF3	OMIM:613702
HP:0000532	Abnormal chorioretinal morphology	55636	CHD7	ORPHA:138
HP:0000532	Abnormal chorioretinal morphology	9723	SEMA3E	ORPHA:138
HP:0000532	Abnormal chorioretinal morphology	113246	C12orf57	OMIM:218340
HP:0000532	Abnormal chorioretinal morphology	51322	WAC	ORPHA:284169
HP:0000532	Abnormal chorioretinal morphology	473	RERE	ORPHA:494344
HP:0000532	Abnormal chorioretinal morphology	652	BMP4	ORPHA:139471
HP:0000532	Abnormal chorioretinal morphology	57020	VPS35L	OMIM:619135
HP:0000532	Abnormal chorioretinal morphology	149461	CLDN19	ORPHA:2196
HP:0000532	Abnormal chorioretinal morphology	8573	CASK	ORPHA:163937
HP:0000532	Abnormal chorioretinal morphology	55733	HHAT	ORPHA:1422
HP:0000532	Abnormal chorioretinal morphology	9487	PIGL	OMIM:280000
HP:0000532	Abnormal chorioretinal morphology	8777	MPDZ	OMIM:615219
HP:0000532	Abnormal chorioretinal morphology	5950	RBP4	OMIM:616428
HP:0000532	Abnormal chorioretinal morphology	4990	SIX6	OMIM:212550
HP:0000532	Abnormal chorioretinal morphology	3166	HMX1	OMIM:612109
HP:0000532	Abnormal chorioretinal morphology	51524	TMEM138	ORPHA:2318
HP:0000532	Abnormal chorioretinal morphology	23090	ZNF423	ORPHA:2318
HP:0000532	Abnormal chorioretinal morphology	6496	SIX3	OMIM:157170
HP:0000532	Abnormal chorioretinal morphology	50945	TBX22	ORPHA:921
HP:0000532	Abnormal chorioretinal morphology	9897	WASHC5	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	28952	CCDC22	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	10908	PNPLA6	OMIM:215470
HP:0000532	Abnormal chorioretinal morphology	10908	PNPLA6	ORPHA:1180
HP:0000532	Abnormal chorioretinal morphology	89910	UBE3B	ORPHA:2707
HP:0000532	Abnormal chorioretinal morphology	157680	VPS13B	ORPHA:193
HP:0000532	Abnormal chorioretinal morphology	157680	VPS13B	OMIM:216550
HP:0000532	Abnormal chorioretinal morphology	7439	BEST1	OMIM:193220
HP:0000532	Abnormal chorioretinal morphology	85378	TUBGCP6	OMIM:251270
HP:0000532	Abnormal chorioretinal morphology	27229	TUBGCP4	OMIM:616335
HP:0000532	Abnormal chorioretinal morphology	4952	OCRL	ORPHA:534
HP:0000532	Abnormal chorioretinal morphology	84892	POMGNT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	148789	B3GALNT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	79147	FKRP	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	29954	POMT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	9215	LARGE1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	1282	COL4A1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	729920	CRPPA	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	10329	RXYLT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	1605	DAG1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	11041	B4GAT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	10585	POMT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	84197	POMK	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	2218	FKTN	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	55624	POMGNT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	54539	NDUFB11	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	1349	COX7B	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	3052	HCCS	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	8449	DHX16	OMIM:618733
HP:0000532	Abnormal chorioretinal morphology	3832	KIF11	OMIM:152950
HP:0000532	Abnormal chorioretinal morphology	23418	CRB1	OMIM:172870
HP:0000532	Abnormal chorioretinal morphology	4901	NRL	OMIM:613750
HP:0000532	Abnormal chorioretinal morphology	2202	EFEMP1	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	3075	CFH	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	3426	CFI	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	7003	TEAD1	OMIM:108985
HP:0000532	Abnormal chorioretinal morphology	3123	HLA-DRB1	OMIM:181000
HP:0000532	Abnormal chorioretinal morphology	8517	IKBKG	OMIM:301081
HP:0000532	Abnormal chorioretinal morphology	94	ACVRL1	OMIM:600376
HP:0000532	Abnormal chorioretinal morphology	285440	CYP4V2	ORPHA:41751
HP:0000532	Abnormal chorioretinal morphology	7078	TIMP3	ORPHA:59181
HP:0000532	Abnormal chorioretinal morphology	3000	GUCY2D	OMIM:215500
HP:0000532	Abnormal chorioretinal morphology	3000	GUCY2D	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	5961	PRPH2	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	2978	GUCA1A	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	10058	ABCB6	OMIM:614497
HP:0000532	Abnormal chorioretinal morphology	65082	VPS33A	OMIM:617303
HP:0000532	Abnormal chorioretinal morphology	6492	SIM1	ORPHA:398079
HP:0000532	Abnormal chorioretinal morphology	54551	MAGEL2	ORPHA:398069
HP:0000532	Abnormal chorioretinal morphology	3458	IFNG	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7248	TSC1	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7249	TSC2	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7490	WT1	OMIM:106210
HP:0000532	Abnormal chorioretinal morphology	5080	PAX6	OMIM:106210
HP:0000532	Abnormal chorioretinal morphology	1638	DCT	OMIM:619165
HP:0000532	Abnormal chorioretinal morphology	10166	SLC25A15	ORPHA:415
HP:0000532	Abnormal chorioretinal morphology	125988	MICOS13	OMIM:618329
HP:0000532	Abnormal chorioretinal morphology	4942	OAT	ORPHA:414
HP:0000532	Abnormal chorioretinal morphology	170692	ADAMTS18	OMIM:615458
HP:0000532	Abnormal chorioretinal morphology	1121	CHM	OMIM:303100
HP:0000532	Abnormal chorioretinal morphology	6102	RP2	OMIM:312600
HP:0000532	Abnormal chorioretinal morphology	1804	DPP6	OMIM:616311
HP:0000532	Abnormal chorioretinal morphology	6935	ZEB1	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	30813	VSX1	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	58495	OVOL2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	79977	GRHL2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	1296	COL8A2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	114902	C1QTNF5	OMIM:605670
HP:0001147	Retinal exudate	23554	TSPAN12	OMIM:613310
HP:0001147	Retinal exudate	8322	FZD4	OMIM:133780
HP:0001147	Retinal exudate	4041	LRP5	OMIM:133780
HP:0001147	Retinal exudate	4041	LRP5	OMIM:601813
HP:0001147	Retinal exudate	79797	ZNF408	OMIM:616468
HP:0001147	Retinal exudate	11277	TREX1	OMIM:192315
HP:0001147	Retinal exudate	80169	CTC1	OMIM:612199
HP:0001147	Retinal exudate	26277	TINF2	OMIM:268130
HP:0001147	Retinal exudate	26277	TINF2	OMIM:613990
HP:0001147	Retinal exudate	4693	NDP	OMIM:305390
HP:0000543	Optic disc pallor	9488	PIGB	OMIM:618580
HP:0000543	Optic disc pallor	778	CACNA1F	OMIM:300476
HP:0000543	Optic disc pallor	26121	PRPF31	OMIM:600138
HP:0000543	Optic disc pallor	9131	AIFM1	OMIM:300232
HP:0000543	Optic disc pallor	23769	FLRT1	ORPHA:320406
HP:0000543	Optic disc pallor	64837	KLC2	ORPHA:320406
HP:0000543	Optic disc pallor	64837	KLC2	OMIM:609541
HP:0000543	Optic disc pallor	54539	NDUFB11	ORPHA:2609
HP:0000543	Optic disc pallor	25915	NDUFAF3	ORPHA:2609
HP:0000543	Optic disc pallor	25915	NDUFAF3	OMIM:618240
HP:0000543	Optic disc pallor	51103	NDUFAF1	ORPHA:2609
HP:0000543	Optic disc pallor	91942	NDUFAF2	ORPHA:2609
HP:0000543	Optic disc pallor	51300	TIMMDC1	ORPHA:2609
HP:0000543	Optic disc pallor	4716	NDUFB10	ORPHA:2609
HP:0000543	Optic disc pallor	4723	NDUFV1	ORPHA:2609
HP:0000543	Optic disc pallor	55572	FOXRED1	ORPHA:2609
HP:0000543	Optic disc pallor	284184	NDUFAF8	ORPHA:2609
HP:0000543	Optic disc pallor	284184	NDUFAF8	OMIM:618776
HP:0000543	Optic disc pallor	55863	TMEM126B	ORPHA:2609
HP:0000543	Optic disc pallor	4535	MT-ND1	ORPHA:2609
HP:0000543	Optic disc pallor	4537	MT-ND3	ORPHA:2609
HP:0000543	Optic disc pallor	4729	NDUFV2	ORPHA:2609
HP:0000543	Optic disc pallor	4694	NDUFA1	ORPHA:2609
HP:0000543	Optic disc pallor	4720	NDUFS2	ORPHA:2609
HP:0000543	Optic disc pallor	4720	NDUFS2	OMIM:618228
HP:0000543	Optic disc pallor	4724	NDUFS4	ORPHA:2609
HP:0000543	Optic disc pallor	4724	NDUFS4	OMIM:252010
HP:0000543	Optic disc pallor	4726	NDUFS6	ORPHA:2609
HP:0000543	Optic disc pallor	4728	NDUFS8	ORPHA:2609
HP:0000543	Optic disc pallor	4722	NDUFS3	ORPHA:2609
HP:0000543	Optic disc pallor	4722	NDUFS3	OMIM:618230
HP:0000543	Optic disc pallor	79133	NDUFAF5	ORPHA:2609
HP:0000543	Optic disc pallor	126328	NDUFA11	ORPHA:2609
HP:0000543	Optic disc pallor	4709	NDUFB3	ORPHA:2609
HP:0000543	Optic disc pallor	80224	NUBPL	ORPHA:2609
HP:0000543	Optic disc pallor	29078	NDUFAF4	ORPHA:2609
HP:0000543	Optic disc pallor	374291	NDUFS7	ORPHA:2609
HP:0000543	Optic disc pallor	4700	NDUFA6	ORPHA:2609
HP:0000543	Optic disc pallor	4536	MT-ND2	ORPHA:2609
HP:0000543	Optic disc pallor	4719	NDUFS1	ORPHA:2609
HP:0000543	Optic disc pallor	4715	NDUFB9	ORPHA:2609
HP:0000543	Optic disc pallor	50	ACO2	OMIM:616289
HP:0000543	Optic disc pallor	5949	RBP3	OMIM:615233
HP:0000543	Optic disc pallor	583	BBS2	OMIM:616562
HP:0000543	Optic disc pallor	2895	GRID2	OMIM:616204
HP:0000543	Optic disc pallor	7167	TPI1	OMIM:615512
HP:0000543	Optic disc pallor	1161	ERCC8	ORPHA:90324
HP:0000543	Optic disc pallor	2074	ERCC6	ORPHA:90324
HP:0000543	Optic disc pallor	4598	MVK	OMIM:260920
HP:0000543	Optic disc pallor	4598	MVK	OMIM:610377
HP:0000543	Optic disc pallor	83700	JAM3	OMIM:613730
HP:0000543	Optic disc pallor	10059	DNM1L	OMIM:614388
HP:0000543	Optic disc pallor	10059	DNM1L	OMIM:610708
HP:0000543	Optic disc pallor	8573	CASK	OMIM:300749
HP:0000543	Optic disc pallor	1593	CYP27A1	OMIM:213700
HP:0000543	Optic disc pallor	1593	CYP27A1	ORPHA:909
HP:0000543	Optic disc pallor	123263	MTFMT	OMIM:614947
HP:0000543	Optic disc pallor	56623	INPP5E	OMIM:213300
HP:0000543	Optic disc pallor	130557	ZNF513	OMIM:613617
HP:0000543	Optic disc pallor	80207	OPA3	OMIM:165300
HP:0000543	Optic disc pallor	6687	SPG7	ORPHA:99013
HP:0000543	Optic disc pallor	91147	TMEM67	OMIM:216360
HP:0000543	Optic disc pallor	4125	MAN2B1	ORPHA:309282
HP:0000543	Optic disc pallor	4125	MAN2B1	ORPHA:309288
HP:0000543	Optic disc pallor	5631	PRPS1	ORPHA:423479
HP:0000543	Optic disc pallor	10733	PLK4	OMIM:616171
HP:0000543	Optic disc pallor	256471	MFSD8	OMIM:616170
HP:0000543	Optic disc pallor	9227	LRAT	ORPHA:364055
HP:0000543	Optic disc pallor	9227	LRAT	OMIM:613341
HP:0000543	Optic disc pallor	55812	SPATA7	ORPHA:364055
HP:0000543	Optic disc pallor	6121	RPE65	ORPHA:364055
HP:0000543	Optic disc pallor	6121	RPE65	OMIM:204100
HP:0000543	Optic disc pallor	167691	LCA5	ORPHA:364055
HP:0000543	Optic disc pallor	1349	COX7B	OMIM:300887
HP:0000543	Optic disc pallor	6809	STX3	OMIM:619446
HP:0000543	Optic disc pallor	83715	ESPN	OMIM:618632
HP:0000543	Optic disc pallor	8566	PDXK	OMIM:618511
HP:0000543	Optic disc pallor	50939	IMPG2	OMIM:613581
HP:0000543	Optic disc pallor	89910	UBE3B	OMIM:244450
HP:0000543	Optic disc pallor	8842	PROM1	OMIM:612095
HP:0000543	Optic disc pallor	83552	MFRP	OMIM:611040
HP:0000543	Optic disc pallor	5148	PDE6G	OMIM:613582
HP:0000543	Optic disc pallor	6392	SDHD	OMIM:619167
HP:0000543	Optic disc pallor	84816	RTN4IP1	OMIM:616732
HP:0000543	Optic disc pallor	24148	PRPF6	OMIM:613983
HP:0000543	Optic disc pallor	10461	MERTK	OMIM:613862
HP:0000543	Optic disc pallor	9128	PRPF4	OMIM:615922
HP:0000543	Optic disc pallor	85015	USP45	OMIM:618513
HP:0000543	Optic disc pallor	5010	CLDN11	OMIM:619328
HP:0000543	Optic disc pallor	768206	PRCD	OMIM:610599
HP:0000543	Optic disc pallor	84140	FAM161A	OMIM:606068
HP:0000543	Optic disc pallor	23020	SNRNP200	OMIM:610359
HP:0000543	Optic disc pallor	55768	NGLY1	ORPHA:404454
HP:0000543	Optic disc pallor	5189	PEX1	OMIM:214100
HP:0000543	Optic disc pallor	9179	AP4M1	OMIM:612936
HP:0000543	Optic disc pallor	346007	EYS	OMIM:602772
HP:0000543	Optic disc pallor	3105	HLA-A	ORPHA:179
HP:0000543	Optic disc pallor	4718	NDUFC2	OMIM:619170
HP:0000543	Optic disc pallor	84340	GFM2	ORPHA:565624
HP:0000543	Optic disc pallor	7439	BEST1	OMIM:613194
HP:0000543	Optic disc pallor	23370	ARHGEF18	OMIM:617433
HP:0000543	Optic disc pallor	8120	AP3B2	OMIM:617276
HP:0000543	Optic disc pallor	64834	ELOVL1	OMIM:618527
HP:0000543	Optic disc pallor	9692	PRORP	OMIM:619737
HP:0000543	Optic disc pallor	51079	NDUFA13	OMIM:618249
HP:0000543	Optic disc pallor	1259	CNGA1	OMIM:613756
HP:0000543	Optic disc pallor	26504	CNNM4	OMIM:217080
HP:0000543	Optic disc pallor	23761	PISD	OMIM:618889
HP:0000543	Optic disc pallor	23746	AIPL1	OMIM:604393
HP:0000543	Optic disc pallor	3614	IMPDH1	OMIM:180105
HP:0000543	Optic disc pallor	51102	MECR	OMIM:617282
HP:0000543	Optic disc pallor	23418	CRB1	OMIM:600105
HP:0000543	Optic disc pallor	24	ABCA4	OMIM:601718
HP:0000543	Optic disc pallor	24	ABCA4	OMIM:604116
HP:0000543	Optic disc pallor	9445	ITM2B	OMIM:616079
HP:0000543	Optic disc pallor	23327	NEDD4L	OMIM:617201
HP:0000543	Optic disc pallor	7466	WFS1	OMIM:614296
HP:0000543	Optic disc pallor	2257	FGF12	OMIM:617166
HP:0000543	Optic disc pallor	8550	MAPKAPK5	OMIM:619869
HP:0000543	Optic disc pallor	54664	TMEM106B	OMIM:617964
HP:0000543	Optic disc pallor	55154	MSTO1	ORPHA:502423
HP:0000543	Optic disc pallor	145226	RDH12	OMIM:612712
HP:0000543	Optic disc pallor	9927	MFN2	OMIM:601152
HP:0000543	Optic disc pallor	9927	MFN2	OMIM:617087
HP:0000543	Optic disc pallor	7840	ALMS1	ORPHA:64
HP:0000543	Optic disc pallor	4117	MAK	OMIM:614181
HP:0000543	Optic disc pallor	149371	EXOC8	OMIM:619076
HP:0000543	Optic disc pallor	3769	KCNJ13	OMIM:614186
HP:0000543	Optic disc pallor	23568	ARL2BP	OMIM:615434
HP:0000543	Optic disc pallor	157657	CFAP418	OMIM:614500
HP:0000543	Optic disc pallor	1861	TOR1A	OMIM:618947
HP:0000543	Optic disc pallor	94137	RP1L1	OMIM:618826
HP:0000543	Optic disc pallor	3035	HARS1	OMIM:614504
HP:0000543	Optic disc pallor	5145	PDE6A	OMIM:613810
HP:0000543	Optic disc pallor	90624	LYRM7	OMIM:615838
HP:0000543	Optic disc pallor	84839	RAX2	OMIM:620102
HP:0000543	Optic disc pallor	3748	KCNC3	ORPHA:98768
HP:0000543	Optic disc pallor	4784	NFIX	ORPHA:420179
HP:0000543	Optic disc pallor	25914	RTTN	ORPHA:468631
HP:0000543	Optic disc pallor	1859	DYRK1A	ORPHA:464311
HP:0000543	Optic disc pallor	6101	RP1	OMIM:180100
HP:0000543	Optic disc pallor	30813	VSX1	OMIM:614195
HP:0000543	Optic disc pallor	1615	DARS1	OMIM:615281
HP:0000543	Optic disc pallor	55617	TASP1	OMIM:618950
HP:0000543	Optic disc pallor	3098	HK1	OMIM:617460
HP:0000543	Optic disc pallor	200894	ARL13B	OMIM:612291
HP:0000543	Optic disc pallor	388552	BLOC1S3	OMIM:614077
HP:0000543	Optic disc pallor	56947	MFF	ORPHA:485421
HP:0000543	Optic disc pallor	56947	MFF	OMIM:617086
HP:0000543	Optic disc pallor	3420	IDH3B	OMIM:612572
HP:0000543	Optic disc pallor	7025	NR2F1	OMIM:615722
HP:0000543	Optic disc pallor	25973	PARS2	OMIM:618437
HP:0000543	Optic disc pallor	3187	HNRNPH1	OMIM:620083
HP:0000543	Optic disc pallor	3798	KIF5A	OMIM:617235
HP:0000543	Optic disc pallor	50484	RRM2B	OMIM:268315
HP:0000543	Optic disc pallor	1186	CLCN7	OMIM:611490
HP:0000543	Optic disc pallor	112752	IFT43	OMIM:617871
HP:0000543	Optic disc pallor	282809	POC1B	OMIM:615973
HP:0000543	Optic disc pallor	2779	GNAT1	OMIM:616389
HP:0000543	Optic disc pallor	2055	CLN8	ORPHA:1947
HP:0000543	Optic disc pallor	64802	NMNAT1	OMIM:608553
HP:0000543	Optic disc pallor	64802	NMNAT1	OMIM:619260
HP:0000543	Optic disc pallor	84233	TMEM126A	OMIM:612989
HP:0000543	Optic disc pallor	4508	MT-ATP6	ORPHA:644
HP:0000543	Optic disc pallor	28962	OSTM1	OMIM:259720
HP:0000543	Optic disc pallor	23155	CLCC1	OMIM:609913
HP:0000543	Optic disc pallor	116150	NUS1	OMIM:617082
HP:0000543	Optic disc pallor	9699	RIMS2	OMIM:618970
HP:0000543	Optic disc pallor	54903	MKS1	OMIM:617121
HP:0000543	Optic disc pallor	26160	IFT172	OMIM:616394
HP:0000543	Optic disc pallor	55181	SMG8	OMIM:619268
HP:0000543	Optic disc pallor	27072	VPS41	OMIM:619389
HP:0000543	Optic disc pallor	55331	ACER3	OMIM:617762
HP:0000543	Optic disc pallor	80025	PANK2	ORPHA:216866
HP:0000543	Optic disc pallor	85378	TUBGCP6	OMIM:251270
HP:0000543	Optic disc pallor	9181	ARHGEF2	OMIM:617523
HP:0000543	Optic disc pallor	375298	CERKL	OMIM:608380
HP:0000543	Optic disc pallor	57670	KIAA1549	OMIM:618613
HP:0000543	Optic disc pallor	10939	AFG3L2	OMIM:618977
HP:0000543	Optic disc pallor	27445	PCLO	OMIM:608027
HP:0000543	Optic disc pallor	51095	TRNT1	OMIM:616959
HP:0000543	Optic disc pallor	6310	ATXN1	OMIM:164400
HP:0000543	Optic disc pallor	4099	MAG	ORPHA:459056
HP:0000543	Optic disc pallor	4976	OPA1	ORPHA:98673
HP:0000543	Optic disc pallor	4976	OPA1	ORPHA:1215
HP:0000543	Optic disc pallor	2202	EFEMP1	ORPHA:98977
HP:0000543	Optic disc pallor	1545	CYP1B1	ORPHA:98977
HP:0000543	Optic disc pallor	4653	MYOC	ORPHA:98977
HP:0000543	Optic disc pallor	1798	DPAGT1	ORPHA:86309
HP:0000543	Optic disc pallor	80781	COL18A1	OMIM:267750
HP:0000543	Optic disc pallor	49855	SCAPER	OMIM:618195
HP:0000543	Optic disc pallor	126792	B3GALT6	ORPHA:536467
HP:0000543	Optic disc pallor	114902	C1QTNF5	ORPHA:67042
HP:0000543	Optic disc pallor	7275	TUB	OMIM:616188
HP:0000543	Optic disc pallor	55624	POMGNT1	OMIM:617123
HP:0000543	Optic disc pallor	79797	ZNF408	OMIM:616469
HP:0000543	Optic disc pallor	138050	HGSNAT	OMIM:616544
HP:0000543	Optic disc pallor	4327	MMP19	OMIM:611543
HP:0000543	Optic disc pallor	10383	TUBB4B	OMIM:617879
HP:0000543	Optic disc pallor	1261	CNGA3	OMIM:216900
HP:0000543	Optic disc pallor	7287	TULP1	OMIM:613843
HP:0000543	Optic disc pallor	1282	COL4A1	OMIM:175780
HP:0000543	Optic disc pallor	55975	KLHL7	OMIM:612943
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:608471
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:607541
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:122200
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	ORPHA:98964
HP:0001149	Lattice corneal dystrophy	2934	GSN	ORPHA:85448
HP:0001149	Lattice corneal dystrophy	2934	GSN	OMIM:105120
HP:0100890	Cyst of the ductus choledochus	11198	SUPT16H	OMIM:619480
HP:0100890	Cyst of the ductus choledochus	8239	USP9X	ORPHA:480880
HP:0100896	Rectal polyposis	4595	MUTYH	ORPHA:247798
HP:0100896	Rectal polyposis	657	BMPR1A	ORPHA:329971
HP:0100896	Rectal polyposis	657	BMPR1A	ORPHA:157794
HP:0100896	Rectal polyposis	4089	SMAD4	ORPHA:329971
HP:0100896	Rectal polyposis	2022	ENG	ORPHA:329971
HP:0100896	Rectal polyposis	26585	GREM1	ORPHA:157794
HP:0100898	Connective tissue nevi	7249	TSC2	OMIM:613254
HP:0100898	Connective tissue nevi	7249	TSC2	ORPHA:805
HP:0100898	Connective tissue nevi	7249	TSC2	ORPHA:538
HP:0100898	Connective tissue nevi	3458	IFNG	OMIM:613254
HP:0100898	Connective tissue nevi	3458	IFNG	ORPHA:805
HP:0100898	Connective tissue nevi	7248	TSC1	ORPHA:805
HP:0100898	Connective tissue nevi	7248	TSC1	OMIM:191100
HP:0100898	Connective tissue nevi	7248	TSC1	ORPHA:538
HP:0100898	Connective tissue nevi	5728	PTEN	ORPHA:2969
HP:0100898	Connective tissue nevi	29957	SLC25A24	ORPHA:2963
HP:0100898	Connective tissue nevi	23592	LEMD3	ORPHA:1306
HP:0100898	Connective tissue nevi	23592	LEMD3	OMIM:166700
HP:0010804	Tented upper lip vermilion	9488	PIGB	OMIM:618580
HP:0010804	Tented upper lip vermilion	3763	KCNJ6	ORPHA:435628
HP:0010804	Tented upper lip vermilion	3763	KCNJ6	OMIM:614098
HP:0010804	Tented upper lip vermilion	340533	NEXMIF	OMIM:300912
HP:0010804	Tented upper lip vermilion	340533	NEXMIF	ORPHA:85277
HP:0010804	Tented upper lip vermilion	10785	WDR4	OMIM:618346
HP:0010804	Tented upper lip vermilion	54892	NCAPG2	OMIM:618460
HP:0010804	Tented upper lip vermilion	4204	MECP2	ORPHA:1762
HP:0010804	Tented upper lip vermilion	4204	MECP2	OMIM:300260
HP:0010804	Tented upper lip vermilion	23556	PIGN	ORPHA:2059
HP:0010804	Tented upper lip vermilion	23556	PIGN	ORPHA:280633
HP:0010804	Tented upper lip vermilion	92335	STRADA	ORPHA:500533
HP:0010804	Tented upper lip vermilion	55627	SMPD4	OMIM:618622
HP:0010804	Tented upper lip vermilion	4897	NRCAM	OMIM:619833
HP:0010804	Tented upper lip vermilion	81857	MED25	OMIM:616449
HP:0010804	Tented upper lip vermilion	81857	MED25	ORPHA:464738
HP:0010804	Tented upper lip vermilion	65062	TMEM237	OMIM:614424
HP:0010804	Tented upper lip vermilion	89970	RSPRY1	OMIM:616723
HP:0010804	Tented upper lip vermilion	89970	RSPRY1	ORPHA:457395
HP:0010804	Tented upper lip vermilion	781	CACNA2D1	OMIM:620149
HP:0010804	Tented upper lip vermilion	55777	MBD5	ORPHA:228402
HP:0010804	Tented upper lip vermilion	1436	CSF1R	OMIM:618476
HP:0010804	Tented upper lip vermilion	3020	H3-3A	OMIM:619720
HP:0010804	Tented upper lip vermilion	51506	UFC1	OMIM:618076
HP:0010804	Tented upper lip vermilion	23030	KDM4B	OMIM:619320
HP:0010804	Tented upper lip vermilion	283489	CHAMP1	OMIM:616579
HP:0010804	Tented upper lip vermilion	2314	FLII	ORPHA:819
HP:0010804	Tented upper lip vermilion	23096	IQSEC2	ORPHA:819
HP:0010804	Tented upper lip vermilion	10743	RAI1	ORPHA:819
HP:0010804	Tented upper lip vermilion	10522	DEAF1	ORPHA:819
HP:0010804	Tented upper lip vermilion	10522	DEAF1	OMIM:615828
HP:0010804	Tented upper lip vermilion	5077	PAX3	ORPHA:896
HP:0010804	Tented upper lip vermilion	5077	PAX3	ORPHA:894
HP:0010804	Tented upper lip vermilion	55650	PIGV	OMIM:239300
HP:0010804	Tented upper lip vermilion	55650	PIGV	ORPHA:247262
HP:0010804	Tented upper lip vermilion	2260	FGFR1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	28514	DLL1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	2253	FGF8	ORPHA:280200
HP:0010804	Tented upper lip vermilion	6496	SIX3	ORPHA:280200
HP:0010804	Tented upper lip vermilion	7050	TGIF1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	4838	NODAL	ORPHA:280200
HP:0010804	Tented upper lip vermilion	6469	SHH	ORPHA:280200
HP:0010804	Tented upper lip vermilion	51684	SUFU	ORPHA:280200
HP:0010804	Tented upper lip vermilion	7546	ZIC2	ORPHA:280200
HP:0010804	Tented upper lip vermilion	2619	GAS1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	84976	DISP1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	2736	GLI2	ORPHA:280200
HP:0010804	Tented upper lip vermilion	8928	FOXH1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	5727	PTCH1	ORPHA:280200
HP:0010804	Tented upper lip vermilion	50937	CDON	ORPHA:280200
HP:0010804	Tented upper lip vermilion	84992	PIGY	ORPHA:247262
HP:0010804	Tented upper lip vermilion	84720	PIGO	ORPHA:247262
HP:0010804	Tented upper lip vermilion	84720	PIGO	OMIM:614749
HP:0010804	Tented upper lip vermilion	93210	PGAP3	ORPHA:247262
HP:0010804	Tented upper lip vermilion	93210	PGAP3	OMIM:615716
HP:0010804	Tented upper lip vermilion	284098	PIGW	ORPHA:247262
HP:0010804	Tented upper lip vermilion	284098	PIGW	OMIM:616025
HP:0010804	Tented upper lip vermilion	27315	PGAP2	ORPHA:247262
HP:0010804	Tented upper lip vermilion	27315	PGAP2	OMIM:614207
HP:0010804	Tented upper lip vermilion	9487	PIGL	ORPHA:247262
HP:0010804	Tented upper lip vermilion	129685	TAF8	OMIM:619972
HP:0010804	Tented upper lip vermilion	2590	GALNT2	OMIM:618885
HP:0010804	Tented upper lip vermilion	5119	CHMP1A	OMIM:614961
HP:0010804	Tented upper lip vermilion	9581	PREPL	OMIM:616224
HP:0010804	Tented upper lip vermilion	23184	MESD	OMIM:618644
HP:0010804	Tented upper lip vermilion	2770	GNAI1	OMIM:619854
HP:0010804	Tented upper lip vermilion	91137	SLC25A46	OMIM:616505
HP:0010804	Tented upper lip vermilion	93627	TBCK	OMIM:616900
HP:0010804	Tented upper lip vermilion	93627	TBCK	ORPHA:488632
HP:0010804	Tented upper lip vermilion	26999	CYFIP2	OMIM:618008
HP:0010804	Tented upper lip vermilion	64359	NXN	ORPHA:1507
HP:0010804	Tented upper lip vermilion	4920	ROR2	ORPHA:1507
HP:0010804	Tented upper lip vermilion	4920	ROR2	OMIM:268310
HP:0010804	Tented upper lip vermilion	546	ATRX	ORPHA:847
HP:0010804	Tented upper lip vermilion	546	ATRX	OMIM:309580
HP:0010804	Tented upper lip vermilion	23258	DENND5A	OMIM:617281
HP:0010804	Tented upper lip vermilion	10943	MSL3	OMIM:301032
HP:0010804	Tented upper lip vermilion	1760	DMPK	ORPHA:589821
HP:0010804	Tented upper lip vermilion	4212	MEIS2	OMIM:600987
HP:0010804	Tented upper lip vermilion	51305	KCNK9	ORPHA:166108
HP:0010804	Tented upper lip vermilion	51305	KCNK9	OMIM:612292
HP:0010804	Tented upper lip vermilion	92949	ADAMTSL1	ORPHA:521445
HP:0010804	Tented upper lip vermilion	5813	PURA	ORPHA:438216
HP:0010804	Tented upper lip vermilion	5813	PURA	OMIM:616158
HP:0010804	Tented upper lip vermilion	5813	PURA	ORPHA:314655
HP:0010804	Tented upper lip vermilion	79633	FAT4	OMIM:615546
HP:0010804	Tented upper lip vermilion	8642	DCHS1	OMIM:601390
HP:0010804	Tented upper lip vermilion	2239	GPC4	ORPHA:2662
HP:0010804	Tented upper lip vermilion	129563	DIS3L2	OMIM:267000
HP:0010804	Tented upper lip vermilion	5518	PPP2R1A	OMIM:616362
HP:0010804	Tented upper lip vermilion	5913	RAPSN	OMIM:618388
HP:0010804	Tented upper lip vermilion	2290	FOXG1	ORPHA:261144
HP:0010804	Tented upper lip vermilion	10367	MICU1	OMIM:615673
HP:0010804	Tented upper lip vermilion	51604	PIGT	ORPHA:369837
HP:0010804	Tented upper lip vermilion	1182	CLCN3	OMIM:619517
HP:0010804	Tented upper lip vermilion	998	CDC42	ORPHA:487796
HP:0010804	Tented upper lip vermilion	4329	ALDH6A1	OMIM:614105
HP:0010804	Tented upper lip vermilion	3211	HOXB1	OMIM:614744
HP:0010804	Tented upper lip vermilion	259232	NALCN	ORPHA:371364
HP:0010804	Tented upper lip vermilion	285175	UNC80	ORPHA:371364
HP:0010804	Tented upper lip vermilion	8314	BAP1	OMIM:619762
HP:0010804	Tented upper lip vermilion	51124	IER3IP1	OMIM:614231
HP:0010804	Tented upper lip vermilion	9326	ZNHIT3	OMIM:260565
HP:0010804	Tented upper lip vermilion	91875	TTC5	OMIM:619244
HP:0010804	Tented upper lip vermilion	6942	TCF20	OMIM:618430
HP:0010804	Tented upper lip vermilion	9373	PLAA	ORPHA:521426
HP:0010804	Tented upper lip vermilion	9373	PLAA	OMIM:617527
HP:0010804	Tented upper lip vermilion	388015	RTL1	ORPHA:96334
HP:0010804	Tented upper lip vermilion	8788	DLK1	ORPHA:96334
HP:0010804	Tented upper lip vermilion	55384	MEG3	ORPHA:96334
HP:0010804	Tented upper lip vermilion	3756	KCNH1	ORPHA:420561
HP:0010804	Tented upper lip vermilion	10430	TMEM147	OMIM:620075
HP:0010804	Tented upper lip vermilion	2535	FZD2	OMIM:164745
HP:0010804	Tented upper lip vermilion	23219	FBXO28	OMIM:619777
HP:0010804	Tented upper lip vermilion	6261	RYR1	ORPHA:98905
HP:0010804	Tented upper lip vermilion	84081	NSRP1	OMIM:620001
HP:0010804	Tented upper lip vermilion	8813	DPM1	ORPHA:79322
HP:0010804	Tented upper lip vermilion	2801	GOLGA2	OMIM:620240
HP:0010804	Tented upper lip vermilion	129285	PPP1R21	OMIM:619383
HP:0010804	Tented upper lip vermilion	11141	IL1RAPL1	OMIM:300143
HP:0010804	Tented upper lip vermilion	1917	EEF1A2	OMIM:616393
HP:0010804	Tented upper lip vermilion	4633	MYL2	OMIM:619424
HP:0010804	Tented upper lip vermilion	29123	ANKRD11	OMIM:148050
HP:0010804	Tented upper lip vermilion	5567	PRKACB	OMIM:619143
HP:0010804	Tented upper lip vermilion	7043	TGFB3	OMIM:615582
HP:0010804	Tented upper lip vermilion	221927	BRAT1	OMIM:618056
HP:0010804	Tented upper lip vermilion	4654	MYOD1	OMIM:618975
HP:0010804	Tented upper lip vermilion	1642	DDB1	OMIM:619426
HP:0010804	Tented upper lip vermilion	9230	RAB11B	OMIM:617807
HP:0100899	Sclerosis of finger phalanx	2697	GJA1	OMIM:218400
HP:0100899	Sclerosis of finger phalanx	2074	ERCC6	OMIM:133540
HP:0100899	Sclerosis of finger phalanx	1161	ERCC8	OMIM:216400
HP:0100899	Sclerosis of finger phalanx	4796	TONSL	ORPHA:93357
HP:0100899	Sclerosis of finger phalanx	9451	EIF2AK3	OMIM:226980
HP:0100899	Sclerosis of finger phalanx	7227	TRPS1	OMIM:190350
HP:0100899	Sclerosis of finger phalanx	10847	SRCAP	OMIM:136140
HP:0100899	Sclerosis of finger phalanx	55768	NGLY1	ORPHA:404454
HP:0011369	Mongolian blue spot	374969	SVBP	OMIM:618569
HP:0011367	Yellow nails	545	ATR	OMIM:614564
HP:0011367	Yellow nails	2303	FOXC2	OMIM:153400
HP:0011367	Yellow nails	1828	DSG1	OMIM:148700
HP:0200104	Absent fifth fingernail	526	ATP6V1B2	OMIM:124480
HP:0200104	Absent fifth fingernail	526	ATP6V1B2	ORPHA:79499
HP:0200104	Absent fifth fingernail	8289	ARID1A	OMIM:614607
HP:0011361	Congenital abnormal hair pattern	7291	TWIST1	ORPHA:794
HP:0011361	Congenital abnormal hair pattern	7291	TWIST1	OMIM:101400
HP:0011361	Congenital abnormal hair pattern	7291	TWIST1	OMIM:617746
HP:0011361	Congenital abnormal hair pattern	2263	FGFR2	ORPHA:794
HP:0011361	Congenital abnormal hair pattern	2263	FGFR2	OMIM:101400
HP:0011361	Congenital abnormal hair pattern	2261	FGFR3	ORPHA:794
HP:0011361	Congenital abnormal hair pattern	2261	FGFR3	OMIM:602849
HP:0011361	Congenital abnormal hair pattern	11113	CIT	OMIM:617090
HP:0011361	Congenital abnormal hair pattern	10128	LRPPRC	OMIM:220111
HP:0011361	Congenital abnormal hair pattern	91949	COG7	OMIM:608779
HP:0011361	Congenital abnormal hair pattern	25970	SH2B1	ORPHA:261222
HP:0011361	Congenital abnormal hair pattern	9131	AIFM1	OMIM:300232
HP:0011361	Congenital abnormal hair pattern	6909	TBX2	OMIM:618223
HP:0011361	Congenital abnormal hair pattern	23013	SPEN	OMIM:619312
HP:0011361	Congenital abnormal hair pattern	8367	H4C5	OMIM:619950
HP:0011361	Congenital abnormal hair pattern	117581	TWIST2	OMIM:227260
HP:0011361	Congenital abnormal hair pattern	117581	TWIST2	OMIM:209885
HP:0011361	Congenital abnormal hair pattern	6885	MAP3K7	OMIM:617137
HP:0011361	Congenital abnormal hair pattern	55627	SMPD4	OMIM:618622
HP:0011361	Congenital abnormal hair pattern	8818	DPM2	ORPHA:329178
HP:0011361	Congenital abnormal hair pattern	7545	ZIC1	OMIM:616602
HP:0011361	Congenital abnormal hair pattern	7545	ZIC1	OMIM:618736
HP:0011361	Congenital abnormal hair pattern	7518	XRCC4	ORPHA:99812
HP:0011361	Congenital abnormal hair pattern	3981	LIG4	ORPHA:99812
HP:0011361	Congenital abnormal hair pattern	3981	LIG4	OMIM:606593
HP:0011361	Congenital abnormal hair pattern	3981	LIG4	ORPHA:235
HP:0011361	Congenital abnormal hair pattern	55209	SETD5	ORPHA:404440
HP:0011361	Congenital abnormal hair pattern	55209	SETD5	OMIM:615761
HP:0011361	Congenital abnormal hair pattern	57465	TBC1D24	OMIM:220500
HP:0011361	Congenital abnormal hair pattern	57465	TBC1D24	ORPHA:79500
HP:0011361	Congenital abnormal hair pattern	9578	CDC42BPB	OMIM:619841
HP:0011361	Congenital abnormal hair pattern	170302	ARX	OMIM:300004
HP:0011361	Congenital abnormal hair pattern	29998	BICRA	OMIM:619325
HP:0011361	Congenital abnormal hair pattern	341640	FREM2	OMIM:617666
HP:0011361	Congenital abnormal hair pattern	55690	PACS1	OMIM:615009
HP:0011361	Congenital abnormal hair pattern	55690	PACS1	ORPHA:329224
HP:0011361	Congenital abnormal hair pattern	4081	MAB21L1	OMIM:618479
HP:0011361	Congenital abnormal hair pattern	318	NUDT2	OMIM:619844
HP:0011361	Congenital abnormal hair pattern	10982	MAPRE2	OMIM:616734
HP:0011361	Congenital abnormal hair pattern	55780	ERMARD	ORPHA:75857
HP:0011361	Congenital abnormal hair pattern	5934	RBL2	OMIM:619690
HP:0011361	Congenital abnormal hair pattern	83999	KREMEN1	OMIM:617392
HP:0011361	Congenital abnormal hair pattern	10735	STAG2	OMIM:301022
HP:0011361	Congenital abnormal hair pattern	23221	RHOBTB2	OMIM:618004
HP:0011361	Congenital abnormal hair pattern	55870	ASH1L	OMIM:617796
HP:0011361	Congenital abnormal hair pattern	4125	MAN2B1	OMIM:248500
HP:0011361	Congenital abnormal hair pattern	1020	CDK5	OMIM:616342
HP:0011361	Congenital abnormal hair pattern	3756	KCNH1	OMIM:135500
HP:0011361	Congenital abnormal hair pattern	3756	KCNH1	ORPHA:420561
HP:0011361	Congenital abnormal hair pattern	79029	AFG2B	OMIM:619616
HP:0011361	Congenital abnormal hair pattern	6597	SMARCA4	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	6598	SMARCB1	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	6659	SOX4	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	8289	ARID1A	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	8289	ARID1A	OMIM:614607
HP:0011361	Congenital abnormal hair pattern	5977	DPF2	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	6601	SMARCC2	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	57492	ARID1B	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	196528	ARID2	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	6605	SMARCE1	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	6605	SMARCE1	OMIM:616938
HP:0011361	Congenital abnormal hair pattern	6664	SOX11	ORPHA:1465
HP:0011361	Congenital abnormal hair pattern	23389	MED13L	ORPHA:369891
HP:0011361	Congenital abnormal hair pattern	23065	EMC1	OMIM:616875
HP:0011361	Congenital abnormal hair pattern	23065	EMC1	ORPHA:480898
HP:0011361	Congenital abnormal hair pattern	128637	TBC1D20	OMIM:615663
HP:0011361	Congenital abnormal hair pattern	1954	MEGF8	OMIM:614976
HP:0011361	Congenital abnormal hair pattern	3782	KCNN3	OMIM:618658
HP:0011361	Congenital abnormal hair pattern	4853	NOTCH2	ORPHA:955
HP:0011361	Congenital abnormal hair pattern	57572	DOCK6	OMIM:614219
HP:0011361	Congenital abnormal hair pattern	59336	PRDM13	OMIM:619909
HP:0011361	Congenital abnormal hair pattern	54888	NSUN2	ORPHA:235
HP:0011361	Congenital abnormal hair pattern	9895	TECPR2	OMIM:615031
HP:0011361	Congenital abnormal hair pattern	9895	TECPR2	ORPHA:320385
HP:0011361	Congenital abnormal hair pattern	157680	VPS13B	ORPHA:193
HP:0011361	Congenital abnormal hair pattern	1182	CLCN3	OMIM:619512
HP:0011361	Congenital abnormal hair pattern	6938	TCF12	OMIM:615314
HP:0011361	Congenital abnormal hair pattern	22931	RAB18	OMIM:614222
HP:0011361	Congenital abnormal hair pattern	85440	DOCK7	ORPHA:411986
HP:0011361	Congenital abnormal hair pattern	85440	DOCK7	OMIM:615859
HP:0011361	Congenital abnormal hair pattern	80036	TRPM3	OMIM:620224
HP:0011361	Congenital abnormal hair pattern	8405	SPOP	OMIM:618828
HP:0011361	Congenital abnormal hair pattern	526	ATP6V1B2	ORPHA:79500
HP:0011361	Congenital abnormal hair pattern	84172	POLR1B	ORPHA:861
HP:0011361	Congenital abnormal hair pattern	9533	POLR1C	ORPHA:861
HP:0011361	Congenital abnormal hair pattern	51082	POLR1D	ORPHA:861
HP:0011361	Congenital abnormal hair pattern	6949	TCOF1	ORPHA:861
HP:0011361	Congenital abnormal hair pattern	7204	TRIO	OMIM:617061
HP:0011361	Congenital abnormal hair pattern	253959	RALGAPA1	OMIM:618797
HP:0011361	Congenital abnormal hair pattern	91875	TTC5	OMIM:619244
HP:0011361	Congenital abnormal hair pattern	440138	ALG11	OMIM:613661
HP:0011361	Congenital abnormal hair pattern	93587	TRMT10A	ORPHA:391408
HP:0011361	Congenital abnormal hair pattern	93587	TRMT10A	OMIM:616033
HP:0011361	Congenital abnormal hair pattern	84919	PPP1R15B	ORPHA:391408
HP:0011361	Congenital abnormal hair pattern	55343	SLC35C1	ORPHA:99843
HP:0011361	Congenital abnormal hair pattern	55691	FRMD4A	OMIM:616819
HP:0011361	Congenital abnormal hair pattern	55691	FRMD4A	ORPHA:466688
HP:0011361	Congenital abnormal hair pattern	79147	FKRP	OMIM:613153
HP:0011361	Congenital abnormal hair pattern	374969	SVBP	OMIM:618569
HP:0011361	Congenital abnormal hair pattern	3643	INSR	ORPHA:769
HP:0011361	Congenital abnormal hair pattern	4683	NBN	ORPHA:647
HP:0011361	Congenital abnormal hair pattern	3339	HSPG2	ORPHA:800
HP:0011361	Congenital abnormal hair pattern	6135	RPL11	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6138	RPL15	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6229	RPS24	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6125	RPL5	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6204	RPS10	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6224	RPS20	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6165	RPL35A	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	2623	GATA1	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6223	RPS19	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6232	RPS27	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6231	RPS26	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	11224	RPL35	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6160	RPL31	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6218	RPS17	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6201	RPS7	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6155	RPL27	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6154	RPL26	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6210	RPS15A	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	90121	TSR2	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6141	RPL18	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	6235	RPS29	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	51816	ADA2	ORPHA:124
HP:0011361	Congenital abnormal hair pattern	171023	ASXL1	OMIM:605039
HP:0011361	Congenital abnormal hair pattern	672	BRCA1	OMIM:617883
HP:0011361	Congenital abnormal hair pattern	6878	TAF6	OMIM:617126
HP:0011361	Congenital abnormal hair pattern	9990	SLC12A6	OMIM:218000
HP:0011361	Congenital abnormal hair pattern	8092	ALX1	ORPHA:306542
HP:0011361	Congenital abnormal hair pattern	55027	HEATR3	OMIM:620072
HP:0011361	Congenital abnormal hair pattern	257	ALX3	OMIM:136760
HP:0011361	Congenital abnormal hair pattern	257	ALX3	ORPHA:391474
HP:0011361	Congenital abnormal hair pattern	4281	MID1	OMIM:300000
HP:0011361	Congenital abnormal hair pattern	4281	MID1	ORPHA:2745
HP:0011361	Congenital abnormal hair pattern	6857	SYT1	ORPHA:522077
HP:0011361	Congenital abnormal hair pattern	10220	GDF11	OMIM:619122
HP:0011361	Congenital abnormal hair pattern	473	RERE	OMIM:616975
HP:0011361	Congenital abnormal hair pattern	23384	SPECC1L	OMIM:145420
HP:0011361	Congenital abnormal hair pattern	23384	SPECC1L	ORPHA:1519
HP:0011361	Congenital abnormal hair pattern	22907	DHX30	OMIM:617804
HP:0011361	Congenital abnormal hair pattern	6304	SATB1	OMIM:619229
HP:0011361	Congenital abnormal hair pattern	4036	LRP2	ORPHA:2143
HP:0011361	Congenital abnormal hair pattern	10522	DEAF1	OMIM:615828
HP:0011361	Congenital abnormal hair pattern	2316	FLNA	OMIM:304120
HP:0011361	Congenital abnormal hair pattern	10466	COG5	ORPHA:263487
HP:0011361	Congenital abnormal hair pattern	64132	XYLT2	OMIM:605822
HP:0011361	Congenital abnormal hair pattern	64132	XYLT2	ORPHA:85194
HP:0011361	Congenital abnormal hair pattern	3479	IGF1	ORPHA:73272
HP:0011361	Congenital abnormal hair pattern	324	APC	ORPHA:261584
HP:0011361	Congenital abnormal hair pattern	1947	EFNB1	ORPHA:1520
HP:0011361	Congenital abnormal hair pattern	1947	EFNB1	OMIM:304110
HP:0011361	Congenital abnormal hair pattern	161742	SPRED1	OMIM:611431
HP:0011361	Congenital abnormal hair pattern	673	BRAF	OMIM:115150
HP:0011361	Congenital abnormal hair pattern	673	BRAF	ORPHA:1340
HP:0011361	Congenital abnormal hair pattern	673	BRAF	OMIM:613707
HP:0011361	Congenital abnormal hair pattern	673	BRAF	OMIM:613706
HP:0011361	Congenital abnormal hair pattern	673	BRAF	OMIM:163950
HP:0011361	Congenital abnormal hair pattern	79650	USB1	OMIM:604173
HP:0011361	Congenital abnormal hair pattern	10847	SRCAP	OMIM:136140
HP:0011361	Congenital abnormal hair pattern	3020	H3-3A	OMIM:619720
HP:0011361	Congenital abnormal hair pattern	23030	KDM4B	OMIM:619320
HP:0011361	Congenital abnormal hair pattern	5184	PEPD	OMIM:170100
HP:0011361	Congenital abnormal hair pattern	4893	NRAS	OMIM:613224
HP:0011361	Congenital abnormal hair pattern	4893	NRAS	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	65082	VPS33A	OMIM:617303
HP:0011361	Congenital abnormal hair pattern	80055	PGAP1	OMIM:615802
HP:0011361	Congenital abnormal hair pattern	25782	RAB3GAP2	OMIM:212720
HP:0011361	Congenital abnormal hair pattern	25782	RAB3GAP2	ORPHA:1387
HP:0011361	Congenital abnormal hair pattern	3764	KCNJ8	ORPHA:1517
HP:0011361	Congenital abnormal hair pattern	10060	ABCC9	ORPHA:1517
HP:0011361	Congenital abnormal hair pattern	4297	KMT2A	OMIM:605130
HP:0011361	Congenital abnormal hair pattern	4763	NF1	OMIM:601321
HP:0011361	Congenital abnormal hair pattern	55777	MBD5	OMIM:156200
HP:0011361	Congenital abnormal hair pattern	165	AEBP1	OMIM:618000
HP:0011361	Congenital abnormal hair pattern	5604	MAP2K1	ORPHA:1340
HP:0011361	Congenital abnormal hair pattern	5604	MAP2K1	OMIM:163950
HP:0011361	Congenital abnormal hair pattern	5605	MAP2K2	ORPHA:1340
HP:0011361	Congenital abnormal hair pattern	3845	KRAS	ORPHA:1340
HP:0011361	Congenital abnormal hair pattern	3845	KRAS	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	1000	CDH2	OMIM:618929
HP:0011361	Congenital abnormal hair pattern	7020	TFAP2A	OMIM:113620
HP:0011361	Congenital abnormal hair pattern	7319	UBE2A	OMIM:300860
HP:0011361	Congenital abnormal hair pattern	7319	UBE2A	ORPHA:163956
HP:0011361	Congenital abnormal hair pattern	10815	CPLX1	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	10815	CPLX1	OMIM:194190
HP:0011361	Congenital abnormal hair pattern	54872	PIGG	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	7469	NELFA	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	1487	CTBP1	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	1487	CTBP1	OMIM:194190
HP:0011361	Congenital abnormal hair pattern	3954	LETM1	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	3954	LETM1	OMIM:194190
HP:0011361	Congenital abnormal hair pattern	7468	NSD2	ORPHA:280
HP:0011361	Congenital abnormal hair pattern	7468	NSD2	OMIM:194190
HP:0011361	Congenital abnormal hair pattern	8036	SHOC2	ORPHA:2701
HP:0011361	Congenital abnormal hair pattern	5500	PPP1CB	ORPHA:2701
HP:0011361	Congenital abnormal hair pattern	5500	PPP1CB	OMIM:617506
HP:0011361	Congenital abnormal hair pattern	4854	NOTCH3	ORPHA:2789
HP:0011361	Congenital abnormal hair pattern	51729	WBP11	OMIM:619227
HP:0011361	Congenital abnormal hair pattern	200734	SPRED2	OMIM:619745
HP:0011361	Congenital abnormal hair pattern	200734	SPRED2	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	6602	SMARCD1	OMIM:618779
HP:0011361	Congenital abnormal hair pattern	53834	FGFRL1	OMIM:194190
HP:0011361	Congenital abnormal hair pattern	6234	RPS28	OMIM:606164
HP:0011361	Congenital abnormal hair pattern	60	ACTB	OMIM:243310
HP:0011361	Congenital abnormal hair pattern	60	ACTB	ORPHA:2995
HP:0011361	Congenital abnormal hair pattern	57167	SALL4	ORPHA:233
HP:0011361	Congenital abnormal hair pattern	9935	MAFB	ORPHA:233
HP:0011361	Congenital abnormal hair pattern	1123	CHN1	ORPHA:233
HP:0011361	Congenital abnormal hair pattern	23476	BRD4	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	9126	SMC3	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	8243	SMC1A	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	25836	NIPBL	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	25836	NIPBL	OMIM:122470
HP:0011361	Congenital abnormal hair pattern	55869	HDAC8	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	5885	RAD21	ORPHA:199
HP:0011361	Congenital abnormal hair pattern	392255	GDF6	OMIM:118100
HP:0011361	Congenital abnormal hair pattern	392255	GDF6	ORPHA:2345
HP:0011361	Congenital abnormal hair pattern	1387	CREBBP	OMIM:180849
HP:0011361	Congenital abnormal hair pattern	2033	EP300	OMIM:180849
HP:0011361	Congenital abnormal hair pattern	29957	SLC25A24	OMIM:612289
HP:0011361	Congenital abnormal hair pattern	79005	SCNM1	OMIM:620107
HP:0011361	Congenital abnormal hair pattern	4784	NFIX	ORPHA:420179
HP:0011361	Congenital abnormal hair pattern	54499	TMCO1	OMIM:213980
HP:0011361	Congenital abnormal hair pattern	54499	TMCO1	ORPHA:1394
HP:0011361	Congenital abnormal hair pattern	5293	PIK3CD	ORPHA:221139
HP:0011361	Congenital abnormal hair pattern	90417	KNSTRN	ORPHA:221139
HP:0011361	Congenital abnormal hair pattern	79796	ALG9	ORPHA:79328
HP:0011361	Congenital abnormal hair pattern	8567	MADD	OMIM:619004
HP:0011361	Congenital abnormal hair pattern	374879	ZNF699	OMIM:619488
HP:0011361	Congenital abnormal hair pattern	5594	MAPK1	OMIM:619087
HP:0011361	Congenital abnormal hair pattern	28952	CCDC22	OMIM:300963
HP:0011361	Congenital abnormal hair pattern	4849	CNOT3	OMIM:618672
HP:0011361	Congenital abnormal hair pattern	226	ALDOA	OMIM:611881
HP:0011361	Congenital abnormal hair pattern	4222	MEOX1	OMIM:214300
HP:0011361	Congenital abnormal hair pattern	4222	MEOX1	ORPHA:2345
HP:0011361	Congenital abnormal hair pattern	80267	EDEM3	OMIM:619493
HP:0011361	Congenital abnormal hair pattern	9897	WASHC5	OMIM:220210
HP:0011361	Congenital abnormal hair pattern	10020	GNE	OMIM:269921
HP:0011361	Congenital abnormal hair pattern	5286	PIK3C2A	OMIM:618440
HP:0011361	Congenital abnormal hair pattern	738	VPS51	OMIM:618606
HP:0011361	Congenital abnormal hair pattern	22930	RAB3GAP1	ORPHA:1387
HP:0011361	Congenital abnormal hair pattern	23133	PHF8	ORPHA:85287
HP:0011361	Congenital abnormal hair pattern	23133	PHF8	OMIM:300263
HP:0011361	Congenital abnormal hair pattern	54187	NANS	OMIM:610442
HP:0011361	Congenital abnormal hair pattern	84700	MYO18B	OMIM:616549
HP:0011361	Congenital abnormal hair pattern	22800	RRAS2	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	867	CBL	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	867	CBL	OMIM:613563
HP:0011361	Congenital abnormal hair pattern	8216	LZTR1	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	8216	LZTR1	OMIM:605275
HP:0011361	Congenital abnormal hair pattern	6016	RIT1	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	6237	RRAS	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	5894	RAF1	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	22808	MRAS	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	6654	SOS1	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	6655	SOS2	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	5781	PTPN11	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	5781	PTPN11	OMIM:163950
HP:0011361	Congenital abnormal hair pattern	5922	RASA2	ORPHA:648
HP:0011361	Congenital abnormal hair pattern	4621	MYH3	ORPHA:2990
HP:0011361	Congenital abnormal hair pattern	1146	CHRNG	ORPHA:2990
HP:0011361	Congenital abnormal hair pattern	5468	PPARG	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	10555	AGPAT2	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	284119	CAVIN1	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	26580	BSCL2	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	2353	FOS	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	857	CAV1	ORPHA:528
HP:0011361	Congenital abnormal hair pattern	6913	TBX15	ORPHA:93333
HP:0011361	Congenital abnormal hair pattern	79087	ALG12	ORPHA:79324
HP:0011361	Congenital abnormal hair pattern	71	ACTG1	ORPHA:2995
HP:0011361	Congenital abnormal hair pattern	9469	CHST3	OMIM:245600
HP:0011361	Congenital abnormal hair pattern	26229	B3GAT3	OMIM:245600
HP:0011361	Congenital abnormal hair pattern	6595	SMARCA2	OMIM:601358
HP:0011361	Congenital abnormal hair pattern	29123	ANKRD11	OMIM:148050
HP:0011361	Congenital abnormal hair pattern	8621	CDK13	OMIM:617360
HP:0011361	Congenital abnormal hair pattern	9181	ARHGEF2	OMIM:617523
HP:0011361	Congenital abnormal hair pattern	9573	GDF3	ORPHA:2345
HP:0011361	Congenital abnormal hair pattern	6736	SRY	ORPHA:1772
HP:0011361	Congenital abnormal hair pattern	27152	INTU	OMIM:617925
HP:0011361	Congenital abnormal hair pattern	10075	HUWE1	OMIM:309590
HP:0011361	Congenital abnormal hair pattern	7528	YY1	ORPHA:506358
HP:0011361	Congenital abnormal hair pattern	7528	YY1	OMIM:617557
HP:0011361	Congenital abnormal hair pattern	5422	POLA1	OMIM:301220
HP:0011361	Congenital abnormal hair pattern	9759	HDAC4	OMIM:619797
HP:0011361	Congenital abnormal hair pattern	8473	OGT	OMIM:300997
HP:0011361	Congenital abnormal hair pattern	815	CAMK2A	OMIM:617798
HP:0011361	Congenital abnormal hair pattern	7681	MKRN3	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	3653	IPW	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	54551	MAGEL2	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	791114	PWRN1	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	100033413	SNORD116-1	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	8924	HERC2	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	145624	PWAR1	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	23742	NPAP1	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	338433	SNORD115-1	OMIM:176270
HP:0011361	Congenital abnormal hair pattern	197131	UBR1	OMIM:243800
HP:0011361	Congenital abnormal hair pattern	9742	IFT140	OMIM:266920
HP:0011361	Congenital abnormal hair pattern	27086	FOXP1	ORPHA:391372
HP:0011361	Congenital abnormal hair pattern	9758	FRMPD4	OMIM:300983
HP:0011361	Congenital abnormal hair pattern	9442	MED27	OMIM:619286
HP:0011361	Congenital abnormal hair pattern	55012	PPP2R3C	OMIM:618419
HP:0011361	Congenital abnormal hair pattern	23261	CAMTA1	OMIM:614756
HP:0011361	Congenital abnormal hair pattern	6925	TCF4	OMIM:610954
HP:0011361	Congenital abnormal hair pattern	3891	KRT85	OMIM:602032
HP:0011361	Congenital abnormal hair pattern	10297	APC2	ORPHA:821
HP:0011361	Congenital abnormal hair pattern	1371	CPOX	ORPHA:79273
HP:0011361	Congenital abnormal hair pattern	80144	FRAS1	OMIM:219000
HP:0011361	Congenital abnormal hair pattern	3265	HRAS	ORPHA:79414
HP:0011361	Congenital abnormal hair pattern	5824	PEX19	OMIM:614886
HP:0011361	Congenital abnormal hair pattern	158326	FREM1	OMIM:248450
HP:0011361	Congenital abnormal hair pattern	7248	TSC1	OMIM:191100
HP:0011361	Congenital abnormal hair pattern	9653	HS2ST1	OMIM:619194
HP:0011361	Congenital abnormal hair pattern	1802	DPH2	OMIM:620062
HP:0011361	Congenital abnormal hair pattern	23394	ADNP	ORPHA:404448
HP:0011361	Congenital abnormal hair pattern	23394	ADNP	OMIM:615873
HP:0011361	Congenital abnormal hair pattern	104	ADARB1	OMIM:618862
HP:0011361	Congenital abnormal hair pattern	8812	CCNK	OMIM:618147
HP:0011361	Congenital abnormal hair pattern	6608	SMO	OMIM:601707
HP:0011361	Congenital abnormal hair pattern	4010	LMX1B	ORPHA:2614
HP:0011361	Congenital abnormal hair pattern	29926	GMPPA	OMIM:615510
HP:0011361	Congenital abnormal hair pattern	54361	WNT4	ORPHA:247768
HP:0011361	Congenital abnormal hair pattern	7360	UGP2	OMIM:618744
HP:0011361	Congenital abnormal hair pattern	3008	H1-4	OMIM:617537
HP:0011361	Congenital abnormal hair pattern	3703	STT3A	OMIM:619714
HP:0011361	Congenital abnormal hair pattern	5189	PEX1	ORPHA:3220
HP:0011361	Congenital abnormal hair pattern	5190	PEX6	ORPHA:3220
HP:0011361	Congenital abnormal hair pattern	10283	CWC27	OMIM:250410
HP:0011361	Congenital abnormal hair pattern	79718	TBL1XR1	OMIM:602342
HP:0011361	Congenital abnormal hair pattern	79718	TBL1XR1	ORPHA:487825
HP:0011361	Congenital abnormal hair pattern	79228	THOC6	ORPHA:363444
HP:0011361	Congenital abnormal hair pattern	79228	THOC6	OMIM:613680
HP:0011361	Congenital abnormal hair pattern	10026	PIGK	OMIM:618879
HP:0011361	Congenital abnormal hair pattern	10525	HYOU1	OMIM:233600
HP:0011361	Congenital abnormal hair pattern	999	CDH1	OMIM:119580
HP:0011361	Congenital abnormal hair pattern	84679	SLC9A7	OMIM:301024
HP:0011361	Congenital abnormal hair pattern	64135	IFIH1	OMIM:182250
HP:0011361	Congenital abnormal hair pattern	9968	MED12	OMIM:300895
HP:0011361	Congenital abnormal hair pattern	64324	NSD1	OMIM:117550
HP:0011361	Congenital abnormal hair pattern	55906	ZC4H2	OMIM:314580
HP:0011361	Congenital abnormal hair pattern	1748	DLX4	OMIM:616788
HP:0011361	Congenital abnormal hair pattern	25942	SIN3A	ORPHA:94065
HP:0011361	Congenital abnormal hair pattern	25942	SIN3A	OMIM:613406
HP:0011361	Congenital abnormal hair pattern	23028	KDM1A	ORPHA:477993
HP:0011361	Congenital abnormal hair pattern	4212	MEIS2	OMIM:600987
HP:0011361	Congenital abnormal hair pattern	5587	PRKD1	OMIM:617364
HP:0011361	Congenital abnormal hair pattern	29072	SETD2	OMIM:616831
HP:0011361	Congenital abnormal hair pattern	4858	NOVA2	OMIM:618859
HP:0011361	Congenital abnormal hair pattern	25871	NEPRO	OMIM:618853
HP:0011361	Congenital abnormal hair pattern	2245	FGD1	ORPHA:915
HP:0011361	Congenital abnormal hair pattern	2783	GNB2	OMIM:619503
HP:0011361	Congenital abnormal hair pattern	79633	FAT4	OMIM:615546
HP:0011361	Congenital abnormal hair pattern	26057	ANKRD17	OMIM:619504
HP:0011361	Congenital abnormal hair pattern	3720	JARID2	OMIM:620098
HP:0011361	Congenital abnormal hair pattern	5518	PPP2R1A	ORPHA:457284
HP:0011361	Congenital abnormal hair pattern	5518	PPP2R1A	OMIM:616362
HP:0011361	Congenital abnormal hair pattern	10617	STAMBP	OMIM:614261
HP:0011361	Congenital abnormal hair pattern	4000	LMNA	ORPHA:79474
HP:0011361	Congenital abnormal hair pattern	7486	WRN	ORPHA:902
HP:0011361	Congenital abnormal hair pattern	84231	TRAF7	OMIM:618164
HP:0011361	Congenital abnormal hair pattern	10265	IRX5	OMIM:611174
HP:0011361	Congenital abnormal hair pattern	11253	MAN1B1	ORPHA:397941
HP:0011360	Acquired abnormal hair pattern	8626	TP63	OMIM:106260
HP:0011360	Acquired abnormal hair pattern	147409	DSG4	ORPHA:573
HP:0011360	Acquired abnormal hair pattern	3892	KRT86	ORPHA:573
HP:0011360	Acquired abnormal hair pattern	3889	KRT83	ORPHA:573
HP:0011360	Acquired abnormal hair pattern	3887	KRT81	ORPHA:573
HP:0011360	Acquired abnormal hair pattern	64840	PORCN	OMIM:305600
HP:0011360	Acquired abnormal hair pattern	8242	KDM5C	OMIM:300534
HP:0011360	Acquired abnormal hair pattern	8242	KDM5C	ORPHA:85279
HP:0011360	Acquired abnormal hair pattern	3914	LAMB3	OMIM:226650
HP:0011360	Acquired abnormal hair pattern	81607	NECTIN4	OMIM:613573
HP:0011360	Acquired abnormal hair pattern	3265	HRAS	ORPHA:2874
HP:0011360	Acquired abnormal hair pattern	55806	HR	ORPHA:701
HP:0011360	Acquired abnormal hair pattern	10682	EBP	OMIM:302960
HP:0011360	Acquired abnormal hair pattern	10682	EBP	ORPHA:35173
HP:0011360	Acquired abnormal hair pattern	641	BLM	ORPHA:125
HP:0011360	Acquired abnormal hair pattern	284252	KCTD1	OMIM:181270
HP:0011360	Acquired abnormal hair pattern	4000	LMNA	ORPHA:740
HP:0011360	Acquired abnormal hair pattern	10269	ZMPSTE24	ORPHA:740
HP:0011360	Acquired abnormal hair pattern	1893	ECM1	OMIM:247100
HP:0011360	Acquired abnormal hair pattern	23404	EXOSC2	OMIM:617763
HP:0011360	Acquired abnormal hair pattern	28755	TRAC	OMIM:615387
HP:0011360	Acquired abnormal hair pattern	51702	PADI3	ORPHA:1410
HP:0011360	Acquired abnormal hair pattern	7053	TGM3	ORPHA:1410
HP:0011360	Acquired abnormal hair pattern	3559	IL2RA	OMIM:606367
HP:0011360	Acquired abnormal hair pattern	84168	ANTXR1	ORPHA:2067
HP:0011360	Acquired abnormal hair pattern	324	APC	ORPHA:261584
HP:0011360	Acquired abnormal hair pattern	2702	GJA5	OMIM:612474
HP:0011360	Acquired abnormal hair pattern	2703	GJA8	OMIM:612474
HP:0011360	Acquired abnormal hair pattern	10084	PQBP1	ORPHA:93945
HP:0011360	Acquired abnormal hair pattern	54361	WNT4	ORPHA:247768
HP:0011360	Acquired abnormal hair pattern	7555	CNBP	OMIM:602668
HP:0011360	Acquired abnormal hair pattern	7840	ALMS1	ORPHA:64
HP:0011360	Acquired abnormal hair pattern	1760	DMPK	OMIM:160900
HP:0011360	Acquired abnormal hair pattern	2908	NR3C1	ORPHA:786
HP:0011360	Acquired abnormal hair pattern	215	ABCD1	ORPHA:139399
HP:0011360	Acquired abnormal hair pattern	6513	SLC2A1	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	8831	SYNGAP1	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	1173	AP2M1	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	6323	SCN1A	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	340533	NEXMIF	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	1106	CHD2	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	6529	SLC6A1	ORPHA:1942
HP:0011360	Acquired abnormal hair pattern	8517	IKBKG	OMIM:308300
HP:0011360	Acquired abnormal hair pattern	1308	COL17A1	ORPHA:251393
HP:0011360	Acquired abnormal hair pattern	3691	ITGB4	ORPHA:251393
HP:0011365	Patchy hypopigmentation of hair	4286	MITF	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	4286	MITF	OMIM:193510
HP:0011365	Patchy hypopigmentation of hair	4286	MITF	ORPHA:897
HP:0011365	Patchy hypopigmentation of hair	7299	TYR	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	6591	SNAI2	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	6591	SNAI2	ORPHA:2884
HP:0011365	Patchy hypopigmentation of hair	1910	EDNRB	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	1910	EDNRB	OMIM:277580
HP:0011365	Patchy hypopigmentation of hair	1910	EDNRB	ORPHA:897
HP:0011365	Patchy hypopigmentation of hair	4254	KITLG	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	4254	KITLG	OMIM:619947
HP:0011365	Patchy hypopigmentation of hair	6663	SOX10	ORPHA:895
HP:0011365	Patchy hypopigmentation of hair	6663	SOX10	OMIM:613266
HP:0011365	Patchy hypopigmentation of hair	6663	SOX10	OMIM:611584
HP:0011365	Patchy hypopigmentation of hair	6663	SOX10	OMIM:609136
HP:0011365	Patchy hypopigmentation of hair	6663	SOX10	ORPHA:897
HP:0011365	Patchy hypopigmentation of hair	5077	PAX3	ORPHA:894
HP:0011365	Patchy hypopigmentation of hair	5077	PAX3	OMIM:193500
HP:0011365	Patchy hypopigmentation of hair	5077	PAX3	OMIM:148820
HP:0011365	Patchy hypopigmentation of hair	3815	KIT	OMIM:172800
HP:0011365	Patchy hypopigmentation of hair	3815	KIT	ORPHA:2884
HP:0011365	Patchy hypopigmentation of hair	7486	WRN	ORPHA:902
HP:0011365	Patchy hypopigmentation of hair	5184	PEPD	ORPHA:742
HP:0011365	Patchy hypopigmentation of hair	7020	TFAP2A	OMIM:113620
HP:0011365	Patchy hypopigmentation of hair	1908	EDN3	OMIM:613265
HP:0011365	Patchy hypopigmentation of hair	1908	EDN3	ORPHA:897
HP:0011365	Patchy hypopigmentation of hair	4000	LMNA	ORPHA:79474
HP:0011365	Patchy hypopigmentation of hair	7015	TERT	OMIM:613989
HP:0011365	Patchy hypopigmentation of hair	355	FAS	ORPHA:3437
HP:0011365	Patchy hypopigmentation of hair	26191	PTPN22	ORPHA:3437
HP:0011365	Patchy hypopigmentation of hair	54499	TMCO1	OMIM:213980
HP:0011365	Patchy hypopigmentation of hair	3265	HRAS	ORPHA:79414
HP:0011365	Patchy hypopigmentation of hair	57167	SALL4	ORPHA:233
HP:0011365	Patchy hypopigmentation of hair	9935	MAFB	ORPHA:233
HP:0011365	Patchy hypopigmentation of hair	1123	CHN1	ORPHA:233
HP:0011364	White hair	79158	GNPTAB	ORPHA:576
HP:0011364	White hair	5077	PAX3	ORPHA:894
HP:0011364	White hair	5077	PAX3	ORPHA:896
HP:0011364	White hair	80169	CTC1	ORPHA:1775
HP:0011364	White hair	26277	TINF2	ORPHA:1775
HP:0011364	White hair	55651	NHP2	ORPHA:1775
HP:0011364	White hair	79650	USB1	ORPHA:1775
HP:0011364	White hair	55135	WRAP53	ORPHA:1775
HP:0011364	White hair	51750	RTEL1	ORPHA:1775
HP:0011364	White hair	4869	NPM1	ORPHA:1775
HP:0011364	White hair	7012	TERC	ORPHA:1775
HP:0011364	White hair	55505	NOP10	ORPHA:1775
HP:0011364	White hair	5073	PARN	ORPHA:1775
HP:0011364	White hair	7015	TERT	ORPHA:1775
HP:0011364	White hair	1736	DKC1	ORPHA:1775
HP:0011364	White hair	7298	TYMS	ORPHA:1775
HP:0011364	White hair	4254	KITLG	OMIM:619947
HP:0011364	White hair	51702	PADI3	ORPHA:1410
HP:0011364	White hair	7053	TGM3	ORPHA:1410
HP:0011364	White hair	7299	TYR	OMIM:203100
HP:0011364	White hair	4157	MC1R	ORPHA:79432
HP:0011364	White hair	4948	OCA2	ORPHA:79432
HP:0011364	White hair	4644	MYO5A	ORPHA:79476
HP:0011364	White hair	51151	SLC45A2	ORPHA:79435
HP:0011363	Abnormality of hair growth rate	128178	EDARADD	OMIM:129490
HP:0011363	Abnormality of hair growth rate	10913	EDAR	OMIM:129490
HP:0011363	Abnormality of hair growth rate	147409	DSG4	ORPHA:573
HP:0011363	Abnormality of hair growth rate	3892	KRT86	ORPHA:573
HP:0011363	Abnormality of hair growth rate	3889	KRT83	ORPHA:573
HP:0011363	Abnormality of hair growth rate	3887	KRT81	ORPHA:573
HP:0011363	Abnormality of hair growth rate	112802	KRT71	ORPHA:170
HP:0011363	Abnormality of hair growth rate	200879	LIPH	ORPHA:170
HP:0011363	Abnormality of hair growth rate	10161	LPAR6	ORPHA:170
HP:0011363	Abnormality of hair growth rate	147183	KRT25	ORPHA:170
HP:0011363	Abnormality of hair growth rate	7737	RNF113A	OMIM:300953
HP:0011363	Abnormality of hair growth rate	6144	RPL21	OMIM:615885
HP:0011363	Abnormality of hair growth rate	8626	TP63	ORPHA:1896
HP:0011363	Abnormality of hair growth rate	8626	TP63	OMIM:129400
HP:0011363	Abnormality of hair growth rate	7227	TRPS1	OMIM:190350
HP:0011363	Abnormality of hair growth rate	673	BRAF	OMIM:115150
HP:0011363	Abnormality of hair growth rate	673	BRAF	ORPHA:1340
HP:0011363	Abnormality of hair growth rate	5500	PPP1CB	OMIM:617506
HP:0011363	Abnormality of hair growth rate	1474	CST6	OMIM:618535
HP:0011363	Abnormality of hair growth rate	7025	NR2F1	OMIM:615722
HP:0011363	Abnormality of hair growth rate	5604	MAP2K1	ORPHA:1340
HP:0011363	Abnormality of hair growth rate	5605	MAP2K2	ORPHA:1340
HP:0011363	Abnormality of hair growth rate	3845	KRAS	ORPHA:1340
HP:0011363	Abnormality of hair growth rate	2961	GTF2E2	OMIM:616943
HP:0011363	Abnormality of hair growth rate	2697	GJA1	OMIM:164200
HP:0011363	Abnormality of hair growth rate	2697	GJA1	ORPHA:2710
HP:0011363	Abnormality of hair growth rate	55764	IFT122	OMIM:218330
HP:0011363	Abnormality of hair growth rate	10804	GJB6	OMIM:129500
HP:0011363	Abnormality of hair growth rate	1041	CDSN	ORPHA:90368
HP:0011363	Abnormality of hair growth rate	121391	KRT74	ORPHA:90368
HP:0011363	Abnormality of hair growth rate	6868	ADAM17	ORPHA:294023
HP:0011363	Abnormality of hair growth rate	1956	EGFR	ORPHA:294023
HP:0008309	Medium chain dicarboxylic aciduria	34	ACADM	OMIM:201450
HP:0000533	Chorioretinal atrophy	346007	EYS	OMIM:602772
HP:0000533	Chorioretinal atrophy	4693	NDP	ORPHA:891
HP:0000533	Chorioretinal atrophy	1499	CTNNB1	ORPHA:891
HP:0000533	Chorioretinal atrophy	23554	TSPAN12	ORPHA:891
HP:0000533	Chorioretinal atrophy	4041	LRP5	ORPHA:891
HP:0000533	Chorioretinal atrophy	79797	ZNF408	ORPHA:891
HP:0000533	Chorioretinal atrophy	79797	ZNF408	OMIM:616468
HP:0000533	Chorioretinal atrophy	8322	FZD4	ORPHA:891
HP:0000533	Chorioretinal atrophy	25794	FSCN2	OMIM:607921
HP:0000533	Chorioretinal atrophy	1121	CHM	OMIM:303100
HP:0000533	Chorioretinal atrophy	1181	CLCN2	OMIM:615651
HP:0000533	Chorioretinal atrophy	54820	NDE1	ORPHA:2177
HP:0000533	Chorioretinal atrophy	6295	SAG	OMIM:613758
HP:0000533	Chorioretinal atrophy	4942	OAT	OMIM:258870
HP:0000533	Chorioretinal atrophy	4942	OAT	ORPHA:414
HP:0000533	Chorioretinal atrophy	3166	HMX1	OMIM:612109
HP:0000533	Chorioretinal atrophy	1406	CRX	OMIM:120970
HP:0000533	Chorioretinal atrophy	6094	ROM1	OMIM:608133
HP:0000533	Chorioretinal atrophy	5076	PAX2	OMIM:120330
HP:0000533	Chorioretinal atrophy	80781	COL18A1	OMIM:267750
HP:0000533	Chorioretinal atrophy	3030	HADHA	ORPHA:5
HP:0000533	Chorioretinal atrophy	10908	PNPLA6	OMIM:245800
HP:0000533	Chorioretinal atrophy	9227	LRAT	ORPHA:364055
HP:0000533	Chorioretinal atrophy	55812	SPATA7	ORPHA:364055
HP:0000533	Chorioretinal atrophy	6121	RPE65	ORPHA:364055
HP:0000533	Chorioretinal atrophy	6121	RPE65	OMIM:618697
HP:0000533	Chorioretinal atrophy	167691	LCA5	ORPHA:364055
HP:0000533	Chorioretinal atrophy	3845	KRAS	OMIM:600268
HP:0000533	Chorioretinal atrophy	100147744	RNU7-1	OMIM:619487
HP:0000533	Chorioretinal atrophy	114902	C1QTNF5	ORPHA:67042
HP:0000533	Chorioretinal atrophy	182	JAG1	OMIM:118450
HP:0000533	Chorioretinal atrophy	1462	VCAN	OMIM:143200
HP:0000533	Chorioretinal atrophy	10166	SLC25A15	ORPHA:415
HP:0000533	Chorioretinal atrophy	10166	SLC25A15	OMIM:238970
HP:0000533	Chorioretinal atrophy	23418	CRB1	OMIM:172870
HP:0000533	Chorioretinal atrophy	4901	NRL	OMIM:613750
HP:0000533	Chorioretinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0000533	Chorioretinal atrophy	3075	CFH	ORPHA:75376
HP:0000533	Chorioretinal atrophy	3426	CFI	ORPHA:75376
HP:0000533	Chorioretinal atrophy	7003	TEAD1	OMIM:108985
HP:0000533	Chorioretinal atrophy	94	ACVRL1	OMIM:600376
HP:0000533	Chorioretinal atrophy	285440	CYP4V2	ORPHA:41751
HP:0000533	Chorioretinal atrophy	7078	TIMP3	ORPHA:59181
HP:0000533	Chorioretinal atrophy	3000	GUCY2D	OMIM:215500
HP:0000533	Chorioretinal atrophy	3000	GUCY2D	ORPHA:75377
HP:0000533	Chorioretinal atrophy	5961	PRPH2	ORPHA:75377
HP:0000533	Chorioretinal atrophy	2978	GUCA1A	ORPHA:75377
HP:0001151	Impaired horizontal smooth pursuit	5981	RFC1	OMIM:614575
HP:0001151	Impaired horizontal smooth pursuit	4287	ATXN3	OMIM:109150
HP:0001151	Impaired horizontal smooth pursuit	1938	EEF2	OMIM:609306
HP:0001151	Impaired horizontal smooth pursuit	1938	EEF2	ORPHA:101112
HP:0001151	Impaired horizontal smooth pursuit	55703	POLR3B	OMIM:614381
HP:0001151	Impaired horizontal smooth pursuit	6310	ATXN1	OMIM:164400
HP:0001151	Impaired horizontal smooth pursuit	6311	ATXN2	OMIM:183090
HP:0001151	Impaired horizontal smooth pursuit	6812	STXBP1	OMIM:612164
HP:0001152	Saccadic smooth pursuit	1200	TPP1	ORPHA:284324
HP:0001152	Saccadic smooth pursuit	1200	TPP1	OMIM:609270
HP:0001152	Saccadic smooth pursuit	55129	ANO10	ORPHA:284289
HP:0001152	Saccadic smooth pursuit	8913	CACNA1G	ORPHA:458803
HP:0001152	Saccadic smooth pursuit	8913	CACNA1G	OMIM:616795
HP:0001152	Saccadic smooth pursuit	10273	STUB1	ORPHA:412057
HP:0001152	Saccadic smooth pursuit	7515	XRCC1	OMIM:617633
HP:0001152	Saccadic smooth pursuit	23533	PIK3R5	ORPHA:64753
HP:0001152	Saccadic smooth pursuit	23064	SETX	ORPHA:64753
HP:0001152	Saccadic smooth pursuit	23064	SETX	OMIM:606002
HP:0001152	Saccadic smooth pursuit	57679	ALS2	OMIM:606353
HP:0001152	Saccadic smooth pursuit	7345	UCHL1	OMIM:620221
HP:0001152	Saccadic smooth pursuit	3752	KCND3	OMIM:607346
HP:0001152	Saccadic smooth pursuit	23203	PMPCA	OMIM:213200
HP:0001152	Saccadic smooth pursuit	57410	SCYL1	ORPHA:466794
HP:0001152	Saccadic smooth pursuit	5582	PRKCG	ORPHA:98763
HP:0001152	Saccadic smooth pursuit	773	CACNA1A	OMIM:108500
HP:0001152	Saccadic smooth pursuit	1822	ATN1	ORPHA:101
HP:0001152	Saccadic smooth pursuit	2332	FMR1	OMIM:300623
HP:0001152	Saccadic smooth pursuit	81790	RNF170	OMIM:619686
HP:0001152	Saccadic smooth pursuit	10935	PRDX3	OMIM:619862
HP:0001152	Saccadic smooth pursuit	23503	ZFYVE26	ORPHA:100996
HP:0001152	Saccadic smooth pursuit	54664	TMEM106B	OMIM:617964
HP:0001152	Saccadic smooth pursuit	80208	SPG11	ORPHA:2822
HP:0001152	Saccadic smooth pursuit	2705	GJB1	ORPHA:1175
HP:0001152	Saccadic smooth pursuit	492	ATP2B3	ORPHA:314978
HP:0001152	Saccadic smooth pursuit	9711	RUBCN	OMIM:615705
HP:0001152	Saccadic smooth pursuit	9711	RUBCN	ORPHA:404499
HP:0001152	Saccadic smooth pursuit	339453	TMEM240	OMIM:607454
HP:0001153	Septate vagina	8195	MKKS	OMIM:236700
HP:0001153	Septate vagina	8626	TP63	OMIM:604292
HP:0001153	Septate vagina	9839	ZEB2	ORPHA:261537
HP:0001153	Septate vagina	9839	ZEB2	ORPHA:261552
HP:0001153	Septate vagina	1717	DHCR7	OMIM:270400
HP:0001153	Septate vagina	7490	WT1	OMIM:608978
HP:0001153	Septate vagina	7490	WT1	OMIM:194080
HP:0001153	Septate vagina	197131	UBR1	OMIM:243800
HP:0001153	Septate vagina	54880	BCOR	OMIM:300166
HP:0001153	Septate vagina	2625	GATA3	ORPHA:2237
HP:0001153	Septate vagina	2625	GATA3	OMIM:146255
HP:0001153	Septate vagina	92002	CCNQ	OMIM:300707
HP:0001153	Septate vagina	27152	INTU	OMIM:617925
HP:0001153	Septate vagina	3110	MNX1	OMIM:176450
HP:0001153	Septate vagina	3209	HOXA13	OMIM:140000
HP:0000013	Hypoplasia of the uterus	668	FOXL2	OMIM:110100
HP:0000013	Hypoplasia of the uterus	668	FOXL2	ORPHA:572333
HP:0000013	Hypoplasia of the uterus	668	FOXL2	OMIM:608996
HP:0000013	Hypoplasia of the uterus	128	ADH5	OMIM:619151
HP:0000013	Hypoplasia of the uterus	2260	FGFR1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	81848	SPRY4	ORPHA:432
HP:0000013	Hypoplasia of the uterus	128674	PROKR2	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2253	FGF8	ORPHA:432
HP:0000013	Hypoplasia of the uterus	60675	PROK2	ORPHA:432
HP:0000013	Hypoplasia of the uterus	55636	CHD7	ORPHA:432
HP:0000013	Hypoplasia of the uterus	6870	TACR3	ORPHA:432
HP:0000013	Hypoplasia of the uterus	1848	DUSP6	ORPHA:432
HP:0000013	Hypoplasia of the uterus	26012	NSMF	ORPHA:432
HP:0000013	Hypoplasia of the uterus	55717	WDR11	ORPHA:432
HP:0000013	Hypoplasia of the uterus	9394	HS6ST1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2796	GNRH1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2796	GNRH1	OMIM:614841
HP:0000013	Hypoplasia of the uterus	2798	GNRHR	ORPHA:432
HP:0000013	Hypoplasia of the uterus	84634	KISS1R	ORPHA:432
HP:0000013	Hypoplasia of the uterus	84634	KISS1R	OMIM:614837
HP:0000013	Hypoplasia of the uterus	6866	TAC3	ORPHA:432
HP:0000013	Hypoplasia of the uterus	8822	FGF17	ORPHA:432
HP:0000013	Hypoplasia of the uterus	3814	KISS1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	3814	KISS1	OMIM:614842
HP:0000013	Hypoplasia of the uterus	5447	POR	OMIM:201750
HP:0000013	Hypoplasia of the uterus	402381	SOHLH1	OMIM:617690
HP:0000013	Hypoplasia of the uterus	9210	BMP15	OMIM:300510
HP:0000013	Hypoplasia of the uterus	1349	COX7B	OMIM:309801
HP:0000013	Hypoplasia of the uterus	3052	HCCS	OMIM:309801
HP:0000013	Hypoplasia of the uterus	54539	NDUFB11	OMIM:309801
HP:0000013	Hypoplasia of the uterus	145173	B3GLCT	OMIM:261540
HP:0000013	Hypoplasia of the uterus	145173	B3GLCT	ORPHA:709
HP:0000013	Hypoplasia of the uterus	54361	WNT4	ORPHA:247768
HP:0000013	Hypoplasia of the uterus	2516	NR5A1	OMIM:612964
HP:0000013	Hypoplasia of the uterus	2516	NR5A1	OMIM:612965
HP:0000013	Hypoplasia of the uterus	80067	DCAF17	ORPHA:3464
HP:0000013	Hypoplasia of the uterus	80067	DCAF17	OMIM:241080
HP:0000013	Hypoplasia of the uterus	64220	STRA6	OMIM:601186
HP:0000013	Hypoplasia of the uterus	2099	ESR1	ORPHA:785
HP:0000013	Hypoplasia of the uterus	2099	ESR1	OMIM:615363
HP:0000013	Hypoplasia of the uterus	317761	C14orf39	OMIM:619203
HP:0000013	Hypoplasia of the uterus	1584	CYP11B1	OMIM:202010
HP:0000013	Hypoplasia of the uterus	3664	IRF6	OMIM:119500
HP:0000013	Hypoplasia of the uterus	57122	NUP107	OMIM:618078
HP:0000013	Hypoplasia of the uterus	1528	CYB5A	ORPHA:90796
HP:0000013	Hypoplasia of the uterus	1586	CYP17A1	ORPHA:90796
HP:0000013	Hypoplasia of the uterus	9928	KIF14	OMIM:616258
HP:0000013	Hypoplasia of the uterus	9928	KIF14	OMIM:617914
HP:0000013	Hypoplasia of the uterus	56945	MRPS22	OMIM:618117
HP:0000013	Hypoplasia of the uterus	6928	HNF1B	OMIM:137920
HP:0000013	Hypoplasia of the uterus	8192	CLPP	OMIM:614129
HP:0000013	Hypoplasia of the uterus	658	BMPR1B	OMIM:609441
HP:0000013	Hypoplasia of the uterus	23514	SPIDR	OMIM:619665
HP:0000013	Hypoplasia of the uterus	26284	ERAL1	OMIM:617565
HP:0000013	Hypoplasia of the uterus	4439	MSH5	OMIM:617442
HP:0000013	Hypoplasia of the uterus	51199	NIN	OMIM:614851
HP:0000013	Hypoplasia of the uterus	23395	LARS2	OMIM:615300
HP:0000013	Hypoplasia of the uterus	55012	PPP2R3C	OMIM:618419
HP:0000013	Hypoplasia of the uterus	344018	FIGLA	OMIM:612310
HP:0000013	Hypoplasia of the uterus	6664	SOX11	OMIM:615866
HP:0000013	Hypoplasia of the uterus	50846	DHH	OMIM:233420
HP:0000013	Hypoplasia of the uterus	50846	DHH	ORPHA:168563
HP:0001159	Syndactyly	28981	IFT81	OMIM:617895
HP:0001159	Syndactyly	23135	KDM6B	OMIM:618505
HP:0001159	Syndactyly	84529	CDIN1	OMIM:615631
HP:0001159	Syndactyly	7681	MKRN3	OMIM:176270
HP:0001159	Syndactyly	3653	IPW	OMIM:176270
HP:0001159	Syndactyly	54551	MAGEL2	OMIM:176270
HP:0001159	Syndactyly	791114	PWRN1	OMIM:176270
HP:0001159	Syndactyly	100033413	SNORD116-1	OMIM:176270
HP:0001159	Syndactyly	8924	HERC2	OMIM:176270
HP:0001159	Syndactyly	145624	PWAR1	OMIM:176270
HP:0001159	Syndactyly	23742	NPAP1	OMIM:176270
HP:0001159	Syndactyly	338433	SNORD115-1	OMIM:176270
HP:0001159	Syndactyly	473	RERE	OMIM:616975
HP:0001159	Syndactyly	4552	MTRR	ORPHA:2169
HP:0001159	Syndactyly	22858	CILK1	OMIM:612651
HP:0001159	Syndactyly	55249	YY1AP1	ORPHA:79094
HP:0001159	Syndactyly	55249	YY1AP1	OMIM:602531
HP:0001159	Syndactyly	4052	LTBP1	OMIM:619451
HP:0001159	Syndactyly	8913	CACNA1G	OMIM:618087
HP:0001159	Syndactyly	10265	IRX5	OMIM:611174
HP:0001159	Syndactyly	79140	CCDC28B	OMIM:209900
HP:0001159	Syndactyly	894	CCND2	OMIM:615938
HP:0001159	Syndactyly	3481	IGF2	OMIM:180860
HP:0001159	Syndactyly	3481	IGF2	OMIM:616489
HP:0001159	Syndactyly	3481	IGF2	ORPHA:397590
HP:0001159	Syndactyly	23389	MED13L	ORPHA:369891
HP:0001159	Syndactyly	9839	ZEB2	ORPHA:261552
HP:0001159	Syndactyly	9839	ZEB2	ORPHA:261537
HP:0001159	Syndactyly	55697	VAC14	ORPHA:3472
HP:0001159	Syndactyly	8550	MAPKAPK5	OMIM:619869
HP:0001159	Syndactyly	9419	CRIPT	OMIM:615789
HP:0001159	Syndactyly	4000	LMNA	OMIM:610140
HP:0001159	Syndactyly	29957	SLC25A24	OMIM:612289
HP:0001159	Syndactyly	4659	PPP1R12A	OMIM:618820
HP:0001159	Syndactyly	79770	TXNDC15	OMIM:619879
HP:0001159	Syndactyly	2887	GRB10	ORPHA:96182
HP:0001159	Syndactyly	6305	SBF1	OMIM:615284
HP:0001159	Syndactyly	1028	CDKN1C	ORPHA:397590
HP:0001159	Syndactyly	5324	PLAG1	ORPHA:397590
HP:0001159	Syndactyly	8091	HMGA2	ORPHA:397590
HP:0001159	Syndactyly	641	BLM	OMIM:210900
HP:0001159	Syndactyly	57688	ZSWIM6	OMIM:603671
HP:0001159	Syndactyly	4677	NARS1	OMIM:619091
HP:0001159	Syndactyly	4677	NARS1	OMIM:619092
HP:0001159	Syndactyly	79989	IFT56	OMIM:619534
HP:0001159	Syndactyly	51317	PHF21A	OMIM:618725
HP:0001159	Syndactyly	51594	NBAS	OMIM:614800
HP:0001159	Syndactyly	7048	TGFBR2	OMIM:610168
HP:0001159	Syndactyly	6513	SLC2A1	ORPHA:1942
HP:0001159	Syndactyly	8831	SYNGAP1	ORPHA:1942
HP:0001159	Syndactyly	1173	AP2M1	ORPHA:1942
HP:0001159	Syndactyly	6323	SCN1A	ORPHA:1942
HP:0001159	Syndactyly	340533	NEXMIF	ORPHA:1942
HP:0001159	Syndactyly	1106	CHD2	ORPHA:1942
HP:0001159	Syndactyly	6529	SLC6A1	ORPHA:1942
HP:0001159	Syndactyly	10210	TOPORS	ORPHA:2754
HP:0001159	Syndactyly	9851	KIAA0753	ORPHA:2754
HP:0001159	Syndactyly	51259	TMEM216	ORPHA:2754
HP:0001159	Syndactyly	317662	FAM149B1	ORPHA:2754
HP:0001159	Syndactyly	3914	LAMB3	OMIM:226700
HP:0001159	Syndactyly	3909	LAMA3	OMIM:226700
HP:0001159	Syndactyly	3918	LAMC2	OMIM:226700
HP:0001159	Syndactyly	171023	ASXL1	OMIM:605039
HP:0001159	Syndactyly	92935	MARS2	OMIM:616430
HP:0001159	Syndactyly	146059	CDAN1	OMIM:224120
HP:0001159	Syndactyly	10464	PIBF1	OMIM:617767
HP:0001159	Syndactyly	50964	SOST	OMIM:269500
HP:0001159	Syndactyly	50964	SOST	ORPHA:3152
HP:0001159	Syndactyly	5307	PITX1	OMIM:186550
HP:0001159	Syndactyly	1001	CDH3	OMIM:225280
HP:0001159	Syndactyly	51057	WDPCP	OMIM:217085
HP:0001159	Syndactyly	51057	WDPCP	ORPHA:1338
HP:0001159	Syndactyly	341640	FREM2	ORPHA:2052
HP:0001159	Syndactyly	80144	FRAS1	ORPHA:2052
HP:0001159	Syndactyly	23426	GRIP1	ORPHA:2052
HP:0001159	Syndactyly	10262	SF3B4	OMIM:154400
HP:0001159	Syndactyly	6309	SC5D	ORPHA:46059
HP:0001159	Syndactyly	6309	SC5D	OMIM:607330
HP:0001159	Syndactyly	9759	HDAC4	ORPHA:1001
HP:0001159	Syndactyly	145173	B3GLCT	ORPHA:709
HP:0001159	Syndactyly	9241	NOG	OMIM:184460
HP:0001159	Syndactyly	55869	HDAC8	OMIM:300882
HP:0001159	Syndactyly	55869	HDAC8	ORPHA:199
HP:0001159	Syndactyly	117581	TWIST2	OMIM:200110
HP:0001159	Syndactyly	117581	TWIST2	ORPHA:920
HP:0001159	Syndactyly	374654	KIF7	OMIM:200990
HP:0001159	Syndactyly	3020	H3-3A	OMIM:619720
HP:0001159	Syndactyly	613	BCR	ORPHA:261330
HP:0001159	Syndactyly	1399	CRKL	ORPHA:261330
HP:0001159	Syndactyly	5594	MAPK1	ORPHA:261330
HP:0001159	Syndactyly	9790	BMS1	ORPHA:1114
HP:0001159	Syndactyly	5339	PLEC	ORPHA:1114
HP:0001159	Syndactyly	10054	UBA2	ORPHA:1114
HP:0001159	Syndactyly	3691	ITGB4	ORPHA:1114
HP:0001159	Syndactyly	54567	DLL4	ORPHA:1114
HP:0001159	Syndactyly	54101	RIPK4	ORPHA:1234
HP:0001159	Syndactyly	2314	FLII	ORPHA:819
HP:0001159	Syndactyly	23096	IQSEC2	ORPHA:819
HP:0001159	Syndactyly	23096	IQSEC2	ORPHA:217377
HP:0001159	Syndactyly	10743	RAI1	ORPHA:819
HP:0001159	Syndactyly	10522	DEAF1	ORPHA:819
HP:0001159	Syndactyly	5818	NECTIN1	ORPHA:3253
HP:0001159	Syndactyly	10225	CD96	OMIM:211750
HP:0001159	Syndactyly	10225	CD96	ORPHA:1308
HP:0001159	Syndactyly	4038	LRP4	ORPHA:3258
HP:0001159	Syndactyly	324	APC	ORPHA:3258
HP:0001159	Syndactyly	9126	SMC3	OMIM:610759
HP:0001159	Syndactyly	9126	SMC3	ORPHA:199
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:87
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:93260
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:93258
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:93259
HP:0001159	Syndactyly	2263	FGFR2	OMIM:101400
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:168624
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:2363
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:1540
HP:0001159	Syndactyly	7480	WNT10B	OMIM:225300
HP:0001159	Syndactyly	7476	WNT7A	OMIM:228930
HP:0001159	Syndactyly	7021	TFAP2B	ORPHA:46627
HP:0001159	Syndactyly	2019	EN1	OMIM:619218
HP:0001159	Syndactyly	64359	NXN	ORPHA:1507
HP:0001159	Syndactyly	4920	ROR2	ORPHA:1507
HP:0001159	Syndactyly	672	BRCA1	ORPHA:84
HP:0001159	Syndactyly	10459	MAD2L2	ORPHA:84
HP:0001159	Syndactyly	7516	XRCC2	ORPHA:84
HP:0001159	Syndactyly	29089	UBE2T	ORPHA:84
HP:0001159	Syndactyly	675	BRCA2	ORPHA:84
HP:0001159	Syndactyly	55120	FANCL	ORPHA:84
HP:0001159	Syndactyly	2177	FANCD2	ORPHA:84
HP:0001159	Syndactyly	2175	FANCA	ORPHA:84
HP:0001159	Syndactyly	2187	FANCB	ORPHA:84
HP:0001159	Syndactyly	2176	FANCC	ORPHA:84
HP:0001159	Syndactyly	2178	FANCE	ORPHA:84
HP:0001159	Syndactyly	2188	FANCF	ORPHA:84
HP:0001159	Syndactyly	2189	FANCG	ORPHA:84
HP:0001159	Syndactyly	5888	RAD51	ORPHA:84
HP:0001159	Syndactyly	5889	RAD51C	ORPHA:84
HP:0001159	Syndactyly	55159	RFWD3	ORPHA:84
HP:0001159	Syndactyly	83990	BRIP1	ORPHA:84
HP:0001159	Syndactyly	57697	FANCM	ORPHA:84
HP:0001159	Syndactyly	79728	PALB2	ORPHA:84
HP:0001159	Syndactyly	84464	SLX4	ORPHA:84
HP:0001159	Syndactyly	2072	ERCC4	ORPHA:84
HP:0001159	Syndactyly	55215	FANCI	ORPHA:84
HP:0001159	Syndactyly	3759	KCNJ2	OMIM:170390
HP:0001159	Syndactyly	157570	ESCO2	ORPHA:2319
HP:0001159	Syndactyly	2260	FGFR1	ORPHA:93258
HP:0001159	Syndactyly	64093	SMOC1	ORPHA:1106
HP:0001159	Syndactyly	64093	SMOC1	OMIM:206920
HP:0001159	Syndactyly	727857	BHLHA9	ORPHA:157801
HP:0001159	Syndactyly	652	BMP4	OMIM:607932
HP:0001159	Syndactyly	64327	LMBR1	ORPHA:93405
HP:0001159	Syndactyly	64327	LMBR1	ORPHA:2378
HP:0001159	Syndactyly	6469	SHH	ORPHA:93405
HP:0001159	Syndactyly	7291	TWIST1	OMIM:101400
HP:0001159	Syndactyly	3239	HOXD13	ORPHA:93409
HP:0001159	Syndactyly	2192	FBLN1	OMIM:608180
HP:0001159	Syndactyly	57167	SALL4	ORPHA:959
HP:0001159	Syndactyly	51715	RAB23	ORPHA:65759
HP:0001159	Syndactyly	51715	RAB23	OMIM:201000
HP:0001159	Syndactyly	1954	MEGF8	ORPHA:65759
HP:0001159	Syndactyly	25942	SIN3A	OMIM:613406
HP:0001159	Syndactyly	10716	TBR1	ORPHA:1617
HP:0001159	Syndactyly	2313	FLI1	ORPHA:2308
HP:0001159	Syndactyly	26227	PHGDH	OMIM:256520
HP:0001159	Syndactyly	23476	BRD4	ORPHA:199
HP:0001159	Syndactyly	8243	SMC1A	ORPHA:199
HP:0001159	Syndactyly	25836	NIPBL	ORPHA:199
HP:0001159	Syndactyly	5885	RAD21	ORPHA:199
HP:0001159	Syndactyly	55112	DYNC2I1	ORPHA:474
HP:0001159	Syndactyly	26160	IFT172	ORPHA:474
HP:0001159	Syndactyly	153241	CEP120	ORPHA:474
HP:0001159	Syndactyly	57560	IFT80	ORPHA:474
HP:0001159	Syndactyly	51626	DYNC2LI1	ORPHA:474
HP:0001159	Syndactyly	79659	DYNC2H1	ORPHA:474
HP:0001159	Syndactyly	9742	IFT140	ORPHA:474
HP:0001159	Syndactyly	57728	WDR19	ORPHA:474
HP:0001159	Syndactyly	89891	DYNC2I2	ORPHA:474
HP:0001159	Syndactyly	79809	TTC21B	ORPHA:474
HP:0001159	Syndactyly	3981	LIG4	ORPHA:235
HP:0001159	Syndactyly	54888	NSUN2	ORPHA:235
HP:0001159	Syndactyly	64840	PORCN	OMIM:305600
HP:0001159	Syndactyly	64840	PORCN	ORPHA:2092
HP:0001159	Syndactyly	1947	EFNB1	OMIM:304110
HP:0001159	Syndactyly	4613	MYCN	ORPHA:391641
HP:0001159	Syndactyly	84265	POLR3GL	OMIM:619234
HP:0001159	Syndactyly	65250	CPLANE1	OMIM:277170
HP:0001159	Syndactyly	92002	CCNQ	OMIM:300707
HP:0001159	Syndactyly	92002	CCNQ	ORPHA:140952
HP:0001159	Syndactyly	5290	PIK3CA	ORPHA:60040
HP:0001159	Syndactyly	91754	NEK9	ORPHA:64754
HP:0001159	Syndactyly	57514	ARHGAP31	OMIM:100300
HP:0001159	Syndactyly	79005	SCNM1	OMIM:620107
HP:0001159	Syndactyly	6608	SMO	OMIM:241800
HP:0001159	Syndactyly	6608	SMO	ORPHA:1553
HP:0001159	Syndactyly	6134	RPL10	ORPHA:459070
HP:0001159	Syndactyly	84992	PIGY	OMIM:616809
HP:0001159	Syndactyly	51633	OTUD6B	ORPHA:505237
HP:0001159	Syndactyly	374879	ZNF699	OMIM:619488
HP:0001159	Syndactyly	28957	MRPS28	OMIM:618958
HP:0001159	Syndactyly	8450	CUL4B	ORPHA:85293
HP:0001159	Syndactyly	2261	FGFR3	ORPHA:2363
HP:0001159	Syndactyly	2255	FGF10	ORPHA:2363
HP:0001159	Syndactyly	79971	WLS	OMIM:619648
HP:0001159	Syndactyly	6299	SALL1	ORPHA:857
HP:0001159	Syndactyly	51339	DACT1	ORPHA:857
HP:0001159	Syndactyly	526	ATP6V1B2	OMIM:124480
HP:0001159	Syndactyly	2316	FLNA	OMIM:304120
HP:0001159	Syndactyly	2316	FLNA	OMIM:311300
HP:0001159	Syndactyly	407975	MIR17HG	ORPHA:391646
HP:0001159	Syndactyly	2767	GNA11	ORPHA:1556
HP:0001159	Syndactyly	151188	ARL6IP6	ORPHA:1556
HP:0001159	Syndactyly	4208	MEF2C	ORPHA:228384
HP:0001159	Syndactyly	2239	GPC4	ORPHA:373
HP:0001159	Syndactyly	2719	GPC3	ORPHA:373
HP:0001159	Syndactyly	3664	IRF6	ORPHA:1300
HP:0001159	Syndactyly	4087	SMAD2	OMIM:619657
HP:0001159	Syndactyly	50945	TBX22	ORPHA:921
HP:0001159	Syndactyly	9896	FIG4	OMIM:216340
HP:0001159	Syndactyly	29968	PSAT1	OMIM:616038
HP:0001159	Syndactyly	26123	TCTN3	OMIM:258860
HP:0001159	Syndactyly	10682	EBP	ORPHA:401973
HP:0001159	Syndactyly	10682	EBP	OMIM:300960
HP:0001159	Syndactyly	658	BMPR1B	OMIM:112600
HP:0001159	Syndactyly	8200	GDF5	OMIM:112600
HP:0001159	Syndactyly	650	BMP2	OMIM:112600
HP:0001159	Syndactyly	22827	PUF60	ORPHA:508498
HP:0001159	Syndactyly	11253	MAN1B1	ORPHA:397941
HP:0001159	Syndactyly	23394	ADNP	ORPHA:404448
HP:0001159	Syndactyly	5898	RALA	OMIM:619311
HP:0001159	Syndactyly	8506	CNTNAP1	OMIM:618186
HP:0001159	Syndactyly	4683	NBN	OMIM:251260
HP:0001159	Syndactyly	81857	MED25	OMIM:616449
HP:0001159	Syndactyly	81857	MED25	ORPHA:464738
HP:0001159	Syndactyly	8854	ALDH1A2	OMIM:620025
HP:0001159	Syndactyly	10274	STAG1	ORPHA:502434
HP:0001159	Syndactyly	85358	SHANK3	OMIM:606232
HP:0001159	Syndactyly	64324	NSD1	ORPHA:821
HP:0001159	Syndactyly	29072	SETD2	ORPHA:821
HP:0001159	Syndactyly	10297	APC2	ORPHA:821
HP:0001159	Syndactyly	55209	SETD5	ORPHA:404440
HP:0001159	Syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0001159	Syndactyly	23291	FBXW11	OMIM:618914
HP:0001159	Syndactyly	10982	MAPRE2	OMIM:616734
HP:0001159	Syndactyly	4297	KMT2A	OMIM:605130
HP:0001159	Syndactyly	6660	SOX5	ORPHA:313892
HP:0001159	Syndactyly	7319	UBE2A	OMIM:300860
HP:0001159	Syndactyly	10087	CERT1	OMIM:616351
HP:0001159	Syndactyly	372	ARCN1	OMIM:617164
HP:0001159	Syndactyly	164	AP1G1	OMIM:619467
HP:0001159	Syndactyly	1656	DDX6	OMIM:618653
HP:0001159	Syndactyly	5147	PDE6D	OMIM:615665
HP:0001159	Syndactyly	57178	ZMIZ1	OMIM:618659
HP:0001159	Syndactyly	93627	TBCK	ORPHA:488632
HP:0001159	Syndactyly	6304	SATB1	OMIM:619229
HP:0001159	Syndactyly	80185	TTI2	ORPHA:391307
HP:0001159	Syndactyly	10664	CTCF	ORPHA:363611
HP:0001159	Syndactyly	3590	IL11RA	OMIM:614188
HP:0001159	Syndactyly	10907	TXNL4A	OMIM:608572
HP:0001159	Syndactyly	6558	SLC12A2	OMIM:619080
HP:0001159	Syndactyly	7204	TRIO	OMIM:617061
HP:0001159	Syndactyly	7204	TRIO	ORPHA:476126
HP:0001159	Syndactyly	2222	FDFT1	OMIM:618156
HP:0001159	Syndactyly	4089	SMAD4	OMIM:139210
HP:0001159	Syndactyly	6857	SYT1	ORPHA:522077
HP:0001159	Syndactyly	6472	SHMT2	OMIM:619121
HP:0001159	Syndactyly	57570	TRMT5	OMIM:616539
HP:0001159	Syndactyly	23529	CLCF1	OMIM:610313
HP:0001159	Syndactyly	11128	POLR3A	ORPHA:3455
HP:0001159	Syndactyly	745	MYRF	OMIM:618280
HP:0001159	Syndactyly	23387	SIK3	OMIM:618162
HP:0001159	Syndactyly	10020	GNE	OMIM:269921
HP:0001159	Syndactyly	10020	GNE	ORPHA:3166
HP:0001159	Syndactyly	1663	DDX11	OMIM:613398
HP:0001159	Syndactyly	5718	PSMD12	OMIM:617516
HP:0001159	Syndactyly	9757	KMT2B	OMIM:619934
HP:0001159	Syndactyly	4848	CNOT2	OMIM:618608
HP:0001159	Syndactyly	55023	PHIP	ORPHA:589905
HP:0001159	Syndactyly	341208	HEPHL1	OMIM:261990
HP:0001159	Syndactyly	55212	BBS7	OMIM:615984
HP:0001159	Syndactyly	3516	RBPJ	OMIM:614814
HP:0001159	Syndactyly	3720	JARID2	OMIM:620098
HP:0001159	Syndactyly	3762	KCNJ5	ORPHA:37553
HP:0001159	Syndactyly	9990	SLC12A6	OMIM:218000
HP:0001159	Syndactyly	6913	TBX15	OMIM:260660
HP:0001159	Syndactyly	79583	TMEM231	OMIM:614970
HP:0001159	Syndactyly	9894	TELO2	ORPHA:488642
HP:0001159	Syndactyly	5932	RBBP8	OMIM:251255
HP:0001159	Syndactyly	1147	CHUK	OMIM:619339
HP:0001159	Syndactyly	1717	DHCR7	OMIM:270400
HP:0001159	Syndactyly	4204	MECP2	OMIM:300260
HP:0001159	Syndactyly	54880	BCOR	OMIM:300166
HP:0001159	Syndactyly	8295	TRRAP	OMIM:618454
HP:0001159	Syndactyly	91179	SCARF2	OMIM:600920
HP:0001159	Syndactyly	23288	IQCE	OMIM:617642
HP:0001159	Syndactyly	5587	PRKD1	OMIM:617364
HP:0001159	Syndactyly	55784	MCTP2	ORPHA:1596
HP:0001159	Syndactyly	23261	CAMTA1	OMIM:614756
HP:0001159	Syndactyly	8823	FGF16	OMIM:309630
HP:0001159	Syndactyly	10079	ATP9A	OMIM:620242
HP:0001159	Syndactyly	2556	GABRA3	OMIM:301091
HP:0001159	Syndactyly	51776	MAP3K20	ORPHA:488232
HP:0001159	Syndactyly	374969	SVBP	OMIM:618569
HP:0001159	Syndactyly	1859	DYRK1A	ORPHA:268261
HP:0001159	Syndactyly	79639	TMEM53	OMIM:619727
HP:0001159	Syndactyly	10586	MAB21L2	OMIM:615877
HP:0001159	Syndactyly	7337	UBE3A	ORPHA:238446
HP:0001159	Syndactyly	6910	TBX5	ORPHA:392
HP:0001159	Syndactyly	1750	DLX6	ORPHA:2440
HP:0001159	Syndactyly	7979	SEM1	ORPHA:2440
HP:0001159	Syndactyly	8945	BTRC	ORPHA:2440
HP:0001159	Syndactyly	58513	EPS15L1	ORPHA:2440
HP:0001159	Syndactyly	6468	FBXW4	ORPHA:2440
HP:0001159	Syndactyly	1749	DLX5	ORPHA:2440
HP:0001159	Syndactyly	23384	SPECC1L	ORPHA:1519
HP:0001159	Syndactyly	26128	KIFBP	ORPHA:66629
HP:0001159	Syndactyly	3764	KCNJ8	ORPHA:1517
HP:0001159	Syndactyly	10060	ABCC9	ORPHA:1517
HP:0001159	Syndactyly	57539	WDR35	ORPHA:1515
HP:0001159	Syndactyly	51098	IFT52	ORPHA:1515
HP:0001159	Syndactyly	55764	IFT122	ORPHA:1515
HP:0001159	Syndactyly	5980	REV3L	ORPHA:570
HP:0001159	Syndactyly	23129	PLXND1	ORPHA:570
HP:0001159	Syndactyly	5925	RB1	ORPHA:1587
HP:0001159	Syndactyly	9968	MED12	ORPHA:93932
HP:0001159	Syndactyly	134701	RIPPLY2	ORPHA:2311
HP:0001159	Syndactyly	10683	DLL3	ORPHA:2311
HP:0001159	Syndactyly	3955	LFNG	ORPHA:2311
HP:0001159	Syndactyly	84667	HES7	ORPHA:2311
HP:0001159	Syndactyly	145873	MESP2	ORPHA:2311
HP:0001159	Syndactyly	8260	NAA10	ORPHA:568
HP:0001159	Syndactyly	1501	CTNND2	ORPHA:281
HP:0001159	Syndactyly	9037	SEMA5A	ORPHA:281
HP:0001159	Syndactyly	92482	BBIP1	ORPHA:110
HP:0001159	Syndactyly	80184	CEP290	ORPHA:110
HP:0001159	Syndactyly	11020	IFT27	ORPHA:110
HP:0001159	Syndactyly	582	BBS1	ORPHA:110
HP:0001159	Syndactyly	49855	SCAPER	ORPHA:110
HP:0001159	Syndactyly	4867	NPHP1	ORPHA:110
HP:0001159	Syndactyly	27241	BBS9	ORPHA:110
HP:0001159	Syndactyly	84984	CEP19	ORPHA:110
HP:0001159	Syndactyly	22954	TRIM32	ORPHA:110
HP:0001159	Syndactyly	54903	MKS1	ORPHA:110
HP:0001159	Syndactyly	79738	BBS10	ORPHA:110
HP:0001159	Syndactyly	123016	TTC8	ORPHA:110
HP:0001159	Syndactyly	583	BBS2	ORPHA:110
HP:0001159	Syndactyly	585	BBS4	ORPHA:110
HP:0001159	Syndactyly	8195	MKKS	ORPHA:110
HP:0001159	Syndactyly	8195	MKKS	ORPHA:2473
HP:0001159	Syndactyly	54585	LZTFL1	ORPHA:110
HP:0001159	Syndactyly	166379	BBS12	ORPHA:110
HP:0001159	Syndactyly	10806	SDCCAG8	ORPHA:110
HP:0001159	Syndactyly	157657	CFAP418	ORPHA:110
HP:0001159	Syndactyly	84100	ARL6	ORPHA:110
HP:0001159	Syndactyly	129880	BBS5	ORPHA:110
HP:0001159	Syndactyly	80173	IFT74	ORPHA:110
HP:0001159	Syndactyly	157680	VPS13B	ORPHA:193
HP:0001159	Syndactyly	1857	DVL3	ORPHA:3107
HP:0001159	Syndactyly	7474	WNT5A	ORPHA:3107
HP:0001159	Syndactyly	1855	DVL1	ORPHA:3107
HP:0001159	Syndactyly	2535	FZD2	ORPHA:3107
HP:0001159	Syndactyly	9508	ADAMTS3	ORPHA:2136
HP:0001159	Syndactyly	10908	PNPLA6	ORPHA:2377
HP:0001159	Syndactyly	2122	MECOM	ORPHA:71289
HP:0001159	Syndactyly	3207	HOXA11	ORPHA:71289
HP:0001159	Syndactyly	2317	FLNB	ORPHA:503
HP:0001159	Syndactyly	2317	FLNB	ORPHA:1263
HP:0001159	Syndactyly	5728	PTEN	ORPHA:744
HP:0001159	Syndactyly	207	AKT1	ORPHA:744
HP:0001159	Syndactyly	8517	IKBKG	ORPHA:464
HP:0001159	Syndactyly	8314	BAP1	OMIM:619762
HP:0001159	Syndactyly	4851	NOTCH1	ORPHA:974
HP:0001159	Syndactyly	57572	DOCK6	ORPHA:974
HP:0001159	Syndactyly	285203	EOGT	ORPHA:974
HP:0001159	Syndactyly	55612	FERMT1	ORPHA:2908
HP:0001159	Syndactyly	1146	CHRNG	ORPHA:2990
HP:0001159	Syndactyly	9939	RBM8A	ORPHA:3320
HP:0001159	Syndactyly	9939	RBM8A	OMIM:274000
HP:0001159	Syndactyly	8481	OFD1	ORPHA:2750
HP:0001159	Syndactyly	4750	NEK1	ORPHA:2751
HP:0001159	Syndactyly	8726	EED	ORPHA:3447
HP:0001159	Syndactyly	23512	SUZ12	ORPHA:3447
HP:0001159	Syndactyly	2146	EZH2	ORPHA:3447
HP:0001159	Syndactyly	9897	WASHC5	ORPHA:7
HP:0001159	Syndactyly	28952	CCDC22	ORPHA:7
HP:0001159	Syndactyly	1723	DHODH	ORPHA:246
HP:0001159	Syndactyly	2245	FGD1	ORPHA:915
HP:0001159	Syndactyly	387	RHOA	OMIM:618727
HP:0001159	Syndactyly	9791	PTDSS1	OMIM:151050
HP:0001159	Syndactyly	4621	MYH3	OMIM:178110
HP:0001159	Syndactyly	63895	PIEZO2	OMIM:114300
HP:0001159	Syndactyly	4998	ORC1	OMIM:224690
HP:0001159	Syndactyly	22856	CHSY1	ORPHA:363417
HP:0001159	Syndactyly	23592	LEMD3	ORPHA:1306
HP:0001159	Syndactyly	147372	CCBE1	OMIM:235510
HP:0001159	Syndactyly	1009	CDH11	OMIM:211380
HP:0001159	Syndactyly	5077	PAX3	OMIM:148820
HP:0001159	Syndactyly	5077	PAX3	ORPHA:896
HP:0001159	Syndactyly	26040	SETBP1	OMIM:616078
HP:0001159	Syndactyly	55012	PPP2R3C	OMIM:618419
HP:0001159	Syndactyly	8642	DCHS1	OMIM:601390
HP:0001159	Syndactyly	4626	MYH8	OMIM:158300
HP:0001159	Syndactyly	2254	FGF9	OMIM:612961
HP:0001159	Syndactyly	79633	FAT4	OMIM:615546
HP:0001159	Syndactyly	1387	CREBBP	OMIM:618332
HP:0001159	Syndactyly	64116	SLC39A8	ORPHA:468699
HP:0001159	Syndactyly	2033	EP300	OMIM:618333
HP:0001159	Syndactyly	56916	SMARCAD1	OMIM:129200
HP:0001159	Syndactyly	50814	NSDHL	OMIM:308050
HP:0001159	Syndactyly	1832	DSP	ORPHA:158687
HP:0001159	Syndactyly	3728	JUP	ORPHA:158687
HP:0001159	Syndactyly	25914	RTTN	ORPHA:468631
HP:0001159	Syndactyly	23327	NEDD4L	OMIM:617201
HP:0001159	Syndactyly	81607	NECTIN4	OMIM:613573
HP:0001159	Syndactyly	8318	CDC45	OMIM:617063
HP:0001159	Syndactyly	112752	IFT43	OMIM:614099
HP:0001159	Syndactyly	2737	GLI3	ORPHA:672
HP:0001159	Syndactyly	284252	KCTD1	OMIM:181270
HP:0001159	Syndactyly	8626	TP63	ORPHA:69085
HP:0001159	Syndactyly	8294	H4C9	OMIM:619951
HP:0001159	Syndactyly	7994	KAT6A	OMIM:616268
HP:0001159	Syndactyly	775	CACNA1C	OMIM:620029
HP:0001159	Syndactyly	2697	GJA1	OMIM:257850
HP:0001159	Syndactyly	29123	ANKRD11	ORPHA:2332
HP:0001159	Syndactyly	29123	ANKRD11	OMIM:148050
HP:0001159	Syndactyly	64131	XYLT1	OMIM:615777
HP:0001159	Syndactyly	150468	CKAP2L	OMIM:272440
HP:0001159	Syndactyly	55165	CEP55	OMIM:236500
HP:0001159	Syndactyly	57465	TBC1D24	ORPHA:79500
HP:0001159	Syndactyly	1500	CTNND1	OMIM:617681
HP:0001159	Syndactyly	4212	MEIS2	OMIM:600987
HP:0001159	Syndactyly	29998	BICRA	OMIM:619325
HP:0001159	Syndactyly	84162	BLTP1	OMIM:617822
HP:0001159	Syndactyly	9772	TMEM94	OMIM:618316
HP:0001159	Syndactyly	999	CDH1	OMIM:119580
HP:0001159	Syndactyly	8241	RBM10	OMIM:311900
HP:0011372	Aplasia of the inner ear	2248	FGF3	ORPHA:90024
HP:0011372	Aplasia of the inner ear	2248	FGF3	OMIM:610706
HP:0011370	Recurrent cutaneous fungal infections	57724	EPG5	OMIM:242840
HP:0011370	Recurrent cutaneous fungal infections	3689	ITGB2	OMIM:116920
HP:0011370	Recurrent cutaneous fungal infections	5994	RFXAP	ORPHA:572
HP:0011370	Recurrent cutaneous fungal infections	5994	RFXAP	OMIM:209920
HP:0011370	Recurrent cutaneous fungal infections	4261	CIITA	ORPHA:572
HP:0011370	Recurrent cutaneous fungal infections	4261	CIITA	OMIM:209920
HP:0011370	Recurrent cutaneous fungal infections	5993	RFX5	ORPHA:572
HP:0011370	Recurrent cutaneous fungal infections	5993	RFX5	OMIM:209920
HP:0011370	Recurrent cutaneous fungal infections	8625	RFXANK	ORPHA:572
HP:0011370	Recurrent cutaneous fungal infections	8625	RFXANK	OMIM:209920
HP:0011370	Recurrent cutaneous fungal infections	10043	TOM1	ORPHA:391487
HP:0011370	Recurrent cutaneous fungal infections	3572	IL6ST	OMIM:619752
HP:0011370	Recurrent cutaneous fungal infections	100	ADA	OMIM:102700
HP:0011370	Recurrent cutaneous fungal infections	84818	IL17RC	OMIM:616445
HP:0011370	Recurrent cutaneous fungal infections	5238	PGM3	OMIM:615816
HP:0011370	Recurrent cutaneous fungal infections	112744	IL17F	OMIM:613956
HP:0011370	Recurrent cutaneous fungal infections	3575	IL7R	OMIM:608971
HP:0011370	Recurrent cutaneous fungal infections	3431	SP110	ORPHA:79124
HP:0011370	Recurrent cutaneous fungal infections	6720	SREBF1	OMIM:158310
HP:0011370	Recurrent cutaneous fungal infections	6774	STAT3	OMIM:147060
HP:0011370	Recurrent cutaneous fungal infections	146206	CARMIL2	OMIM:618131
HP:0011370	Recurrent cutaneous fungal infections	64170	CARD9	OMIM:212050
HP:0011370	Recurrent cutaneous fungal infections	84905	ZNF341	OMIM:618282
HP:0011370	Recurrent cutaneous fungal infections	915	CD3D	ORPHA:169160
HP:0011370	Recurrent cutaneous fungal infections	916	CD3E	ORPHA:169160
HP:0011370	Recurrent cutaneous fungal infections	919	CD247	ORPHA:169160
HP:0011370	Recurrent cutaneous fungal infections	64421	DCLRE1C	ORPHA:275
HP:0011370	Recurrent cutaneous fungal infections	3551	IKBKB	OMIM:615592
HP:0011370	Recurrent cutaneous fungal infections	6772	STAT1	OMIM:614162
HP:0011370	Recurrent cutaneous fungal infections	326	AIRE	OMIM:240300
HP:0011370	Recurrent cutaneous fungal infections	7037	TFRC	OMIM:616740
HP:0011370	Recurrent cutaneous fungal infections	4598	MVK	OMIM:260920
HP:0011370	Recurrent cutaneous fungal infections	3932	LCK	OMIM:615758
HP:0011370	Recurrent cutaneous fungal infections	959	CD40LG	OMIM:308230
HP:0011370	Recurrent cutaneous fungal infections	5293	PIK3CD	ORPHA:221139
HP:0011370	Recurrent cutaneous fungal infections	90417	KNSTRN	ORPHA:221139
HP:0011370	Recurrent cutaneous fungal infections	8546	AP3B1	OMIM:608233
HP:0011370	Recurrent cutaneous fungal infections	51311	TLR8	OMIM:301078
HP:0011370	Recurrent cutaneous fungal infections	9948	WDR1	OMIM:150550
HP:0011370	Recurrent cutaneous fungal infections	28755	TRAC	OMIM:615387
HP:0011370	Recurrent cutaneous fungal infections	11151	CORO1A	OMIM:615401
HP:0011370	Recurrent cutaneous fungal infections	1794	DOCK2	OMIM:616433
HP:0011370	Recurrent cutaneous fungal infections	10758	TRAF3IP2	OMIM:615527
HP:0011370	Recurrent cutaneous fungal infections	917	CD3G	OMIM:615607
HP:0011370	Recurrent cutaneous fungal infections	7535	ZAP70	ORPHA:911
HP:0011370	Recurrent cutaneous fungal infections	3559	IL2RA	OMIM:606367
HP:0011370	Recurrent cutaneous fungal infections	3718	JAK3	ORPHA:35078
HP:0011370	Recurrent cutaneous fungal infections	6097	RORC	OMIM:616622
HP:0011370	Recurrent cutaneous fungal infections	3561	IL2RG	ORPHA:276
HP:0011370	Recurrent cutaneous fungal infections	10804	GJB6	ORPHA:477
HP:0011370	Recurrent cutaneous fungal infections	2706	GJB2	ORPHA:477
HP:0011370	Recurrent cutaneous fungal infections	84196	USP48	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	7157	TP53	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	9101	USP8	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	64072	CDH23	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	2908	NR3C1	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	673	BRAF	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	546	ATRX	ORPHA:96253
HP:0011370	Recurrent cutaneous fungal infections	23765	IL17RA	OMIM:613953
HP:0011370	Recurrent cutaneous fungal infections	64581	CLEC7A	OMIM:613108
HP:0011375	Cochlear aplasia	80000	GREB1L	OMIM:619274
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6663	SOX10	OMIM:611584
HP:0011376	Morphological abnormality of the vestibule of the inner ear	80000	GREB1L	OMIM:619274
HP:0011376	Morphological abnormality of the vestibule of the inner ear	2263	FGFR2	ORPHA:87
HP:0011376	Morphological abnormality of the vestibule of the inner ear	54845	ESRP1	OMIM:618013
HP:0011376	Morphological abnormality of the vestibule of the inner ear	22800	RRAS2	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	867	CBL	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	8216	LZTR1	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6016	RIT1	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6237	RRAS	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	5894	RAF1	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	22808	MRAS	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	3845	KRAS	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	200734	SPRED2	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	4893	NRAS	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6654	SOS1	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6655	SOS2	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	5781	PTPN11	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	5922	RASA2	ORPHA:648
HP:0011376	Morphological abnormality of the vestibule of the inner ear	55636	CHD7	ORPHA:138
HP:0011376	Morphological abnormality of the vestibule of the inner ear	9723	SEMA3E	ORPHA:138
HP:0011376	Morphological abnormality of the vestibule of the inner ear	3265	HRAS	ORPHA:79414
HP:0011376	Morphological abnormality of the vestibule of the inner ear	3766	KCNJ10	OMIM:600791
HP:0011376	Morphological abnormality of the vestibule of the inner ear	3766	KCNJ10	ORPHA:705
HP:0011376	Morphological abnormality of the vestibule of the inner ear	2299	FOXI1	OMIM:600791
HP:0011376	Morphological abnormality of the vestibule of the inner ear	2299	FOXI1	ORPHA:705
HP:0011376	Morphological abnormality of the vestibule of the inner ear	5172	SLC26A4	OMIM:600791
HP:0011376	Morphological abnormality of the vestibule of the inner ear	5172	SLC26A4	ORPHA:705
HP:0011376	Morphological abnormality of the vestibule of the inner ear	2138	EYA1	OMIM:113650
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6495	SIX1	OMIM:113650
HP:0011376	Morphological abnormality of the vestibule of the inner ear	6885	MAP3K7	OMIM:157800
HP:0011379	Dilated vestibule of the inner ear	6663	SOX10	OMIM:611584
HP:0011379	Dilated vestibule of the inner ear	80000	GREB1L	OMIM:619274
HP:0011373	Incomplete partition of the cochlea	3766	KCNJ10	OMIM:600791
HP:0011373	Incomplete partition of the cochlea	2299	FOXI1	OMIM:600791
HP:0011373	Incomplete partition of the cochlea	5172	SLC26A4	OMIM:600791
HP:0011373	Incomplete partition of the cochlea	23498	HAAO	OMIM:617660
HP:0011373	Incomplete partition of the cochlea	2138	EYA1	OMIM:113650
HP:0011373	Incomplete partition of the cochlea	6495	SIX1	OMIM:113650
HP:0011373	Incomplete partition of the cochlea	4998	ORC1	OMIM:224690
HP:0011373	Incomplete partition of the cochlea	1288	COL4A6	OMIM:300914
HP:0008305	Exercise-induced myoglobinuria	5213	PFKM	OMIM:232800
HP:0008305	Exercise-induced myoglobinuria	3939	LDHA	ORPHA:284426
HP:0008305	Exercise-induced myoglobinuria	23175	LPIN1	ORPHA:99845
HP:0008305	Exercise-induced myoglobinuria	4512	MT-CO1	ORPHA:99845
HP:0008305	Exercise-induced myoglobinuria	4514	MT-CO3	ORPHA:99845
HP:0008305	Exercise-induced myoglobinuria	37	ACADVL	OMIM:201475
HP:0008305	Exercise-induced myoglobinuria	5230	PGK1	OMIM:300653
HP:0008305	Exercise-induced myoglobinuria	729920	CRPPA	ORPHA:352479
HP:0008305	Exercise-induced myoglobinuria	5837	PYGM	ORPHA:368
HP:0008305	Exercise-induced myoglobinuria	5255	PHKA1	OMIM:300559
HP:0008305	Exercise-induced myoglobinuria	79147	FKRP	OMIM:607155
HP:0001987	Hyperammonemia	435	ASL	ORPHA:23
HP:0001987	Hyperammonemia	435	ASL	OMIM:207900
HP:0001987	Hyperammonemia	4594	MMUT	ORPHA:289916
HP:0001987	Hyperammonemia	4594	MMUT	OMIM:251000
HP:0001987	Hyperammonemia	4594	MMUT	ORPHA:79312
HP:0001987	Hyperammonemia	10128	LRPPRC	OMIM:220111
HP:0001987	Hyperammonemia	3155	HMGCL	ORPHA:20
HP:0001987	Hyperammonemia	3155	HMGCL	OMIM:246450
HP:0001987	Hyperammonemia	3376	IARS1	OMIM:617093
HP:0001987	Hyperammonemia	26235	FBXL4	OMIM:615471
HP:0001987	Hyperammonemia	763	CA5A	OMIM:615751
HP:0001987	Hyperammonemia	5009	OTC	OMIM:311250
HP:0001987	Hyperammonemia	5009	OTC	ORPHA:664
HP:0001987	Hyperammonemia	25821	MTO1	OMIM:614702
HP:0001987	Hyperammonemia	10102	TSFM	OMIM:610505
HP:0001987	Hyperammonemia	5095	PCCA	ORPHA:35
HP:0001987	Hyperammonemia	5095	PCCA	OMIM:606054
HP:0001987	Hyperammonemia	5096	PCCB	ORPHA:35
HP:0001987	Hyperammonemia	5096	PCCB	OMIM:606054
HP:0001987	Hyperammonemia	56945	MRPS22	OMIM:611719
HP:0001987	Hyperammonemia	1373	CPS1	ORPHA:147
HP:0001987	Hyperammonemia	1373	CPS1	OMIM:237300
HP:0001987	Hyperammonemia	54968	TMEM70	ORPHA:1194
HP:0001987	Hyperammonemia	54968	TMEM70	OMIM:614052
HP:0001987	Hyperammonemia	4141	MARS1	OMIM:615486
HP:0001987	Hyperammonemia	1376	CPT2	OMIM:600649
HP:0001987	Hyperammonemia	1376	CPT2	OMIM:608836
HP:0001987	Hyperammonemia	1376	CPT2	ORPHA:228308
HP:0001987	Hyperammonemia	790	CAD	OMIM:616457
HP:0001987	Hyperammonemia	10157	AASS	ORPHA:2203
HP:0001987	Hyperammonemia	10157	AASS	ORPHA:3124
HP:0001987	Hyperammonemia	3141	HLCS	OMIM:253270
HP:0001987	Hyperammonemia	3141	HLCS	ORPHA:79242
HP:0001987	Hyperammonemia	4204	MECP2	ORPHA:778
HP:0001987	Hyperammonemia	10166	SLC25A15	ORPHA:415
HP:0001987	Hyperammonemia	10166	SLC25A15	OMIM:238970
HP:0001987	Hyperammonemia	1340	COX6B1	OMIM:619051
HP:0001987	Hyperammonemia	1738	DLD	ORPHA:2394
HP:0001987	Hyperammonemia	60561	RINT1	OMIM:618641
HP:0001987	Hyperammonemia	513	ATP5F1D	OMIM:618120
HP:0001987	Hyperammonemia	686	BTD	OMIM:253260
HP:0001987	Hyperammonemia	686	BTD	ORPHA:79241
HP:0001987	Hyperammonemia	128989	TANGO2	ORPHA:480864
HP:0001987	Hyperammonemia	128989	TANGO2	OMIM:616878
HP:0001987	Hyperammonemia	9056	SLC7A7	OMIM:222700
HP:0001987	Hyperammonemia	9056	SLC7A7	ORPHA:470
HP:0001987	Hyperammonemia	4700	NDUFA6	OMIM:618253
HP:0001987	Hyperammonemia	9971	NR1H4	OMIM:617049
HP:0001987	Hyperammonemia	2752	GLUL	OMIM:610015
HP:0001987	Hyperammonemia	284439	SLC25A42	OMIM:618416
HP:0001987	Hyperammonemia	84947	SERAC1	OMIM:614739
HP:0001987	Hyperammonemia	28976	ACAD9	ORPHA:99901
HP:0001987	Hyperammonemia	55186	SLC25A36	OMIM:620211
HP:0001987	Hyperammonemia	326625	MMAB	OMIM:251110
HP:0001987	Hyperammonemia	788	SLC25A20	ORPHA:159
HP:0001987	Hyperammonemia	788	SLC25A20	OMIM:212138
HP:0001987	Hyperammonemia	383	ARG1	ORPHA:90
HP:0001987	Hyperammonemia	383	ARG1	OMIM:207800
HP:0001987	Hyperammonemia	3028	HSD17B10	ORPHA:391428
HP:0001987	Hyperammonemia	51594	NBAS	OMIM:616483
HP:0001987	Hyperammonemia	37	ACADVL	OMIM:201475
HP:0001987	Hyperammonemia	37	ACADVL	ORPHA:26793
HP:0001987	Hyperammonemia	54914	FOCAD	OMIM:619991
HP:0001987	Hyperammonemia	166785	MMAA	OMIM:251100
HP:0001987	Hyperammonemia	7385	UQCRC2	OMIM:615160
HP:0001987	Hyperammonemia	5162	PDHB	OMIM:614111
HP:0001987	Hyperammonemia	440138	ALG11	OMIM:613661
HP:0001987	Hyperammonemia	498	ATP5F1A	OMIM:620358
HP:0001987	Hyperammonemia	3033	HADH	ORPHA:71212
HP:0001987	Hyperammonemia	5832	ALDH18A1	OMIM:219150
HP:0001987	Hyperammonemia	7284	TUFM	OMIM:610678
HP:0001987	Hyperammonemia	3030	HADHA	OMIM:609015
HP:0001987	Hyperammonemia	38	ACAT1	ORPHA:134
HP:0001987	Hyperammonemia	34	ACADM	ORPHA:42
HP:0001987	Hyperammonemia	1537	CYC1	OMIM:615453
HP:0001987	Hyperammonemia	1374	CPT1A	OMIM:255120
HP:0001987	Hyperammonemia	2806	GOT2	OMIM:618721
HP:0001987	Hyperammonemia	29960	MRM2	OMIM:618567
HP:0001987	Hyperammonemia	25974	MMACHC	ORPHA:79282
HP:0001987	Hyperammonemia	445	ASS1	OMIM:215700
HP:0001987	Hyperammonemia	9451	EIF2AK3	ORPHA:1667
HP:0001987	Hyperammonemia	506	ATP5F1B	OMIM:620085
HP:0001987	Hyperammonemia	79587	CARS2	OMIM:616672
HP:0001987	Hyperammonemia	7388	UQCRH	OMIM:620137
HP:0001987	Hyperammonemia	6584	SLC22A5	OMIM:212140
HP:0001987	Hyperammonemia	2746	GLUD1	ORPHA:35878
HP:0001987	Hyperammonemia	2746	GLUD1	OMIM:606762
HP:0001987	Hyperammonemia	162417	NAGS	ORPHA:927
HP:0001987	Hyperammonemia	10165	SLC25A13	ORPHA:247585
HP:0001987	Hyperammonemia	56922	MCCC1	OMIM:210200
HP:0001987	Hyperammonemia	64087	MCCC2	OMIM:210210
HP:0008348	Decreased circulating IgG2 level	919	CD247	OMIM:610163
HP:0008348	Decreased circulating IgG2 level	100	ADA	OMIM:102700
HP:0008348	Decreased circulating IgG2 level	1503	CTPS1	OMIM:615897
HP:0008348	Decreased circulating IgG2 level	57724	EPG5	OMIM:242840
HP:0008348	Decreased circulating IgG2 level	57724	EPG5	ORPHA:1493
HP:0008348	Decreased circulating IgG2 level	472	ATM	OMIM:208900
HP:0008348	Decreased circulating IgG2 level	30011	SH3KBP1	OMIM:300310
HP:0008348	Decreased circulating IgG2 level	5293	PIK3CD	OMIM:615513
HP:0008348	Decreased circulating IgG2 level	917	CD3G	OMIM:615607
HP:0008311	Spinal cord posterior columns myelin loss	5631	PRPS1	ORPHA:1187
HP:0008311	Spinal cord posterior columns myelin loss	5631	PRPS1	OMIM:301835
HP:0008311	Spinal cord posterior columns myelin loss	6311	ATXN2	ORPHA:98756
HP:0008314	Decreased activity of mitochondrial complex II	200205	IBA57	ORPHA:468661
HP:0008314	Decreased activity of mitochondrial complex II	200205	IBA57	OMIM:615330
HP:0008314	Decreased activity of mitochondrial complex II	112812	FDX2	OMIM:251900
HP:0008314	Decreased activity of mitochondrial complex II	27247	NFU1	OMIM:605711
HP:0008314	Decreased activity of mitochondrial complex II	6390	SDHB	OMIM:619224
HP:0008314	Decreased activity of mitochondrial complex II	51102	MECR	ORPHA:508093
HP:0008314	Decreased activity of mitochondrial complex II	9054	NFS1	OMIM:619386
HP:0008314	Decreased activity of mitochondrial complex II	6392	SDHD	OMIM:619167
HP:0008314	Decreased activity of mitochondrial complex II	125170	MIEF2	OMIM:619024
HP:0008314	Decreased activity of mitochondrial complex II	388962	BOLA3	OMIM:614299
HP:0008314	Decreased activity of mitochondrial complex II	6389	SDHA	OMIM:613642
HP:0008314	Decreased activity of mitochondrial complex II	6389	SDHA	OMIM:252011
HP:0008314	Decreased activity of mitochondrial complex II	400916	CHCHD10	OMIM:616209
HP:0008314	Decreased activity of mitochondrial complex II	84300	UQCC2	OMIM:615824
HP:0008314	Decreased activity of mitochondrial complex II	64116	SLC39A8	ORPHA:468699
HP:0008314	Decreased activity of mitochondrial complex II	23479	ISCU	OMIM:255125
HP:0008320	Impaired collagen-induced platelet aggregation	63915	BLOC1S5	OMIM:619172
HP:0008320	Impaired collagen-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0008320	Impaired collagen-induced platelet aggregation	3690	ITGB3	OMIM:619267
HP:0008320	Impaired collagen-induced platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0008320	Impaired collagen-induced platelet aggregation	51206	GP6	OMIM:614201
HP:0008320	Impaired collagen-induced platelet aggregation	64376	IKZF5	OMIM:619130
HP:0008320	Impaired collagen-induced platelet aggregation	10019	SH2B3	OMIM:187950
HP:0008320	Impaired collagen-induced platelet aggregation	811	CALR	OMIM:187950
HP:0008320	Impaired collagen-induced platelet aggregation	7066	THPO	OMIM:187950
HP:0008320	Impaired collagen-induced platelet aggregation	493856	CISD2	OMIM:604928
HP:0008320	Impaired collagen-induced platelet aggregation	3937	LCP2	OMIM:619374
HP:0008320	Impaired collagen-induced platelet aggregation	8328	GFI1B	OMIM:187900
HP:0008320	Impaired collagen-induced platelet aggregation	23218	NBEAL2	OMIM:139090
HP:0008321	Reduced factor X activity	2677	GGCX	OMIM:277450
HP:0008321	Reduced factor X activity	2677	GGCX	OMIM:610842
HP:0008321	Reduced factor X activity	2159	F10	OMIM:227600
HP:0008321	Reduced factor X activity	2159	F10	ORPHA:328
HP:0008321	Reduced factor X activity	79001	VKORC1	OMIM:607473
HP:0008321	Reduced factor X activity	196527	ANO6	OMIM:262890
HP:0008322	Abnormal mitochondrial morphology	6687	SPG7	ORPHA:99013
HP:0008322	Abnormal mitochondrial morphology	6901	TAFAZZIN	ORPHA:111
HP:0008322	Abnormal mitochondrial morphology	6901	TAFAZZIN	OMIM:302060
HP:0008322	Abnormal mitochondrial morphology	63931	MRPS14	OMIM:618378
HP:0008322	Abnormal mitochondrial morphology	2521	FUS	ORPHA:275872
HP:0008322	Abnormal mitochondrial morphology	8878	SQSTM1	ORPHA:275872
HP:0008322	Abnormal mitochondrial morphology	7415	VCP	ORPHA:275872
HP:0008322	Abnormal mitochondrial morphology	23435	TARDBP	ORPHA:275872
HP:0008322	Abnormal mitochondrial morphology	29110	TBK1	ORPHA:275872
HP:0008322	Abnormal mitochondrial morphology	3028	HSD17B10	OMIM:300438
HP:0008322	Abnormal mitochondrial morphology	56947	MFF	ORPHA:485421
HP:0008322	Abnormal mitochondrial morphology	5250	SLC25A3	OMIM:610773
HP:0008322	Abnormal mitochondrial morphology	8802	SUCLG1	ORPHA:17
HP:0008322	Abnormal mitochondrial morphology	2232	FDXR	ORPHA:543470
HP:0008322	Abnormal mitochondrial morphology	2271	FH	OMIM:606812
HP:0008322	Abnormal mitochondrial morphology	55863	TMEM126B	OMIM:618250
HP:0008322	Abnormal mitochondrial morphology	79784	MYH14	ORPHA:397744
HP:0008322	Abnormal mitochondrial morphology	57128	LYRM4	OMIM:615595
HP:0008322	Abnormal mitochondrial morphology	9453	GGPS1	OMIM:619518
HP:0008322	Abnormal mitochondrial morphology	1120	CHKB	OMIM:602541
HP:0008322	Abnormal mitochondrial morphology	1763	DNA2	ORPHA:352470
HP:0008322	Abnormal mitochondrial morphology	92667	MGME1	ORPHA:352447
HP:0008322	Abnormal mitochondrial morphology	119559	SFXN4	OMIM:615578
HP:0008322	Abnormal mitochondrial morphology	100303755	PET117	OMIM:619063
HP:0008322	Abnormal mitochondrial morphology	400916	CHCHD10	ORPHA:457050
HP:0008322	Abnormal mitochondrial morphology	2992	GYG1	ORPHA:263297
HP:0008323	Abnormal light- and dark-adapted electroretinogram	51	ACOX1	OMIM:264470
HP:0008323	Abnormal light- and dark-adapted electroretinogram	10195	ALG3	OMIM:601110
HP:0008323	Abnormal light- and dark-adapted electroretinogram	7439	BEST1	OMIM:611809
HP:0008323	Abnormal light- and dark-adapted electroretinogram	9227	LRAT	OMIM:613341
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5538	PPT1	OMIM:256730
HP:0008323	Abnormal light- and dark-adapted electroretinogram	3000	GUCY2D	OMIM:204000
HP:0008323	Abnormal light- and dark-adapted electroretinogram	3420	IDH3B	OMIM:612572
HP:0008323	Abnormal light- and dark-adapted electroretinogram	3423	IDS	ORPHA:217085
HP:0008323	Abnormal light- and dark-adapted electroretinogram	3423	IDS	ORPHA:217093
HP:0008323	Abnormal light- and dark-adapted electroretinogram	285440	CYP4V2	ORPHA:41751
HP:0008323	Abnormal light- and dark-adapted electroretinogram	85015	USP45	OMIM:618513
HP:0008323	Abnormal light- and dark-adapted electroretinogram	55624	POMGNT1	OMIM:253280
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6295	SAG	OMIM:613758
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5995	RGR	OMIM:613769
HP:0008323	Abnormal light- and dark-adapted electroretinogram	9215	LARGE1	OMIM:608840
HP:0008323	Abnormal light- and dark-adapted electroretinogram	57192	MCOLN1	OMIM:252650
HP:0008323	Abnormal light- and dark-adapted electroretinogram	10002	NR2E3	OMIM:611131
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6121	RPE65	OMIM:204100
HP:0008323	Abnormal light- and dark-adapted electroretinogram	375298	CERKL	OMIM:608380
HP:0008323	Abnormal light- and dark-adapted electroretinogram	57096	RPGRIP1	OMIM:608194
HP:0008323	Abnormal light- and dark-adapted electroretinogram	7401	CLRN1	OMIM:614180
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6101	RP1	OMIM:180100
HP:0008323	Abnormal light- and dark-adapted electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0008323	Abnormal light- and dark-adapted electroretinogram	23636	NUP62	ORPHA:225154
HP:0008323	Abnormal light- and dark-adapted electroretinogram	103	ADAR	ORPHA:225154
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6100	RP9	OMIM:180104
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5130	PCYT1A	ORPHA:85167
HP:0008323	Abnormal light- and dark-adapted electroretinogram	23746	AIPL1	OMIM:604393
HP:0008323	Abnormal light- and dark-adapted electroretinogram	3614	IMPDH1	OMIM:180105
HP:0008323	Abnormal light- and dark-adapted electroretinogram	123016	TTC8	OMIM:613464
HP:0008323	Abnormal light- and dark-adapted electroretinogram	778	CACNA1F	OMIM:300476
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5961	PRPH2	ORPHA:52427
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6017	RLBP1	ORPHA:52427
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6010	RHO	ORPHA:52427
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5959	RDH5	ORPHA:52427
HP:0008323	Abnormal light- and dark-adapted electroretinogram	5158	PDE6B	OMIM:613801
HP:0008323	Abnormal light- and dark-adapted electroretinogram	8842	PROM1	OMIM:612657
HP:0008323	Abnormal light- and dark-adapted electroretinogram	130557	ZNF513	OMIM:613617
HP:0008323	Abnormal light- and dark-adapted electroretinogram	83552	MFRP	OMIM:611040
HP:0001161	Hand polydactyly	54806	AHI1	ORPHA:475
HP:0001161	Hand polydactyly	54806	AHI1	ORPHA:220493
HP:0001161	Hand polydactyly	200894	ARL13B	ORPHA:475
HP:0001161	Hand polydactyly	9731	CEP104	ORPHA:475
HP:0001161	Hand polydactyly	23247	KATNIP	ORPHA:475
HP:0001161	Hand polydactyly	219854	TMEM218	ORPHA:475
HP:0001161	Hand polydactyly	95681	CEP41	ORPHA:475
HP:0001161	Hand polydactyly	95681	CEP41	ORPHA:220493
HP:0001161	Hand polydactyly	9786	KIAA0586	ORPHA:475
HP:0001161	Hand polydactyly	10464	PIBF1	ORPHA:475
HP:0001161	Hand polydactyly	23116	TOGARAM1	ORPHA:475
HP:0001161	Hand polydactyly	25776	CBY1	ORPHA:475
HP:0001161	Hand polydactyly	403	ARL3	ORPHA:475
HP:0001161	Hand polydactyly	10682	EBP	ORPHA:401973
HP:0001161	Hand polydactyly	5626	PROP1	ORPHA:226307
HP:0001161	Hand polydactyly	89884	LHX4	ORPHA:226307
HP:0001161	Hand polydactyly	8022	LHX3	ORPHA:226307
HP:0001161	Hand polydactyly	5449	POU1F1	ORPHA:226307
HP:0001161	Hand polydactyly	8820	HESX1	ORPHA:226307
HP:0001161	Hand polydactyly	1947	EFNB1	ORPHA:1520
HP:0001161	Hand polydactyly	5290	PIK3CA	ORPHA:60040
HP:0001161	Hand polydactyly	10908	PNPLA6	ORPHA:2377
HP:0001161	Hand polydactyly	51	ACOX1	ORPHA:2971
HP:0001161	Hand polydactyly	2187	FANCB	OMIM:314390
HP:0001161	Hand polydactyly	7547	ZIC3	OMIM:314390
HP:0001161	Hand polydactyly	641	BLM	OMIM:210900
HP:0001161	Hand polydactyly	2314	FLII	ORPHA:819
HP:0001161	Hand polydactyly	23096	IQSEC2	ORPHA:819
HP:0001161	Hand polydactyly	10743	RAI1	ORPHA:819
HP:0001161	Hand polydactyly	10522	DEAF1	ORPHA:819
HP:0001161	Hand polydactyly	26154	ABCA12	ORPHA:457
HP:0001161	Hand polydactyly	8241	RBM10	ORPHA:2886
HP:0001161	Hand polydactyly	1312	COMT	ORPHA:567
HP:0001161	Hand polydactyly	221037	JMJD1C	ORPHA:567
HP:0001161	Hand polydactyly	2812	GP1BB	ORPHA:567
HP:0001161	Hand polydactyly	6239	RREB1	ORPHA:567
HP:0001161	Hand polydactyly	6899	TBX1	ORPHA:567
HP:0001161	Hand polydactyly	7290	HIRA	ORPHA:567
HP:0001161	Hand polydactyly	9632	SEC24C	ORPHA:567
HP:0001161	Hand polydactyly	7353	UFD1	ORPHA:567
HP:0001161	Hand polydactyly	421	ARVCF	ORPHA:567
HP:0001161	Hand polydactyly	51524	TMEM138	ORPHA:2318
HP:0001161	Hand polydactyly	23090	ZNF423	ORPHA:2318
HP:0001161	Hand polydactyly	10210	TOPORS	ORPHA:2754
HP:0001161	Hand polydactyly	9897	WASHC5	ORPHA:7
HP:0001161	Hand polydactyly	28952	CCDC22	ORPHA:7
HP:0001161	Hand polydactyly	5566	PRKACA	ORPHA:289
HP:0001161	Hand polydactyly	25970	SH2B1	ORPHA:261197
HP:0001161	Hand polydactyly	5728	PTEN	ORPHA:65285
HP:0001161	Hand polydactyly	6469	SHH	ORPHA:93405
HP:0001161	Hand polydactyly	55636	CHD7	OMIM:214800
HP:0001161	Hand polydactyly	2313	FLI1	ORPHA:2308
HP:0001161	Hand polydactyly	6309	SC5D	ORPHA:46059
HP:0001161	Hand polydactyly	6309	SC5D	OMIM:607330
HP:0001161	Hand polydactyly	894	CCND2	ORPHA:83473
HP:0001161	Hand polydactyly	894	CCND2	OMIM:615938
HP:0001161	Hand polydactyly	5296	PIK3R2	ORPHA:83473
HP:0001161	Hand polydactyly	10000	AKT3	ORPHA:83473
HP:0001161	Hand polydactyly	10000	AKT3	OMIM:615937
HP:0001161	Hand polydactyly	26160	IFT172	OMIM:615630
HP:0001161	Hand polydactyly	26160	IFT172	ORPHA:474
HP:0001161	Hand polydactyly	26160	IFT172	OMIM:619471
HP:0001161	Hand polydactyly	26160	IFT172	ORPHA:110
HP:0001161	Hand polydactyly	56623	INPP5E	OMIM:213300
HP:0001161	Hand polydactyly	56623	INPP5E	ORPHA:1454
HP:0001161	Hand polydactyly	55593	OTUD5	OMIM:301056
HP:0001161	Hand polydactyly	83479	DDX59	OMIM:174300
HP:0001161	Hand polydactyly	83479	DDX59	ORPHA:2919
HP:0001161	Hand polydactyly	1717	DHCR7	ORPHA:818
HP:0001161	Hand polydactyly	1717	DHCR7	OMIM:270400
HP:0001161	Hand polydactyly	10225	CD96	OMIM:211750
HP:0001161	Hand polydactyly	6926	TBX3	ORPHA:3138
HP:0001161	Hand polydactyly	6926	TBX3	OMIM:181450
HP:0001161	Hand polydactyly	7476	WNT7A	OMIM:228930
HP:0001161	Hand polydactyly	84100	ARL6	OMIM:209900
HP:0001161	Hand polydactyly	84100	ARL6	ORPHA:110
HP:0001161	Hand polydactyly	79140	CCDC28B	OMIM:209900
HP:0001161	Hand polydactyly	582	BBS1	OMIM:209900
HP:0001161	Hand polydactyly	582	BBS1	ORPHA:110
HP:0001161	Hand polydactyly	3209	HOXA13	ORPHA:2438
HP:0001161	Hand polydactyly	3209	HOXA13	OMIM:176305
HP:0001161	Hand polydactyly	64093	SMOC1	ORPHA:1106
HP:0001161	Hand polydactyly	64093	SMOC1	OMIM:206920
HP:0001161	Hand polydactyly	8200	GDF5	OMIM:113100
HP:0001161	Hand polydactyly	8200	GDF5	OMIM:200700
HP:0001161	Hand polydactyly	8200	GDF5	ORPHA:2098
HP:0001161	Hand polydactyly	5147	PDE6D	OMIM:615665
HP:0001161	Hand polydactyly	51715	RAB23	ORPHA:65759
HP:0001161	Hand polydactyly	51715	RAB23	OMIM:201000
HP:0001161	Hand polydactyly	26005	C2CD3	OMIM:615948
HP:0001161	Hand polydactyly	26005	C2CD3	ORPHA:434179
HP:0001161	Hand polydactyly	26040	SETBP1	OMIM:269150
HP:0001161	Hand polydactyly	2121	EVC	ORPHA:952
HP:0001161	Hand polydactyly	2121	EVC	OMIM:193530
HP:0001161	Hand polydactyly	2121	EVC	OMIM:225500
HP:0001161	Hand polydactyly	132884	EVC2	ORPHA:952
HP:0001161	Hand polydactyly	132884	EVC2	OMIM:193530
HP:0001161	Hand polydactyly	132884	EVC2	OMIM:225500
HP:0001161	Hand polydactyly	153241	CEP120	ORPHA:474
HP:0001161	Hand polydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001161	Hand polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0001161	Hand polydactyly	9742	IFT140	ORPHA:474
HP:0001161	Hand polydactyly	9742	IFT140	OMIM:266920
HP:0001161	Hand polydactyly	57728	WDR19	ORPHA:474
HP:0001161	Hand polydactyly	79809	TTC21B	ORPHA:474
HP:0001161	Hand polydactyly	64840	PORCN	OMIM:305600
HP:0001161	Hand polydactyly	92482	BBIP1	ORPHA:110
HP:0001161	Hand polydactyly	11020	IFT27	ORPHA:110
HP:0001161	Hand polydactyly	49855	SCAPER	ORPHA:110
HP:0001161	Hand polydactyly	4867	NPHP1	ORPHA:110
HP:0001161	Hand polydactyly	27241	BBS9	ORPHA:110
HP:0001161	Hand polydactyly	27241	BBS9	OMIM:615986
HP:0001161	Hand polydactyly	84984	CEP19	ORPHA:110
HP:0001161	Hand polydactyly	22954	TRIM32	ORPHA:110
HP:0001161	Hand polydactyly	79738	BBS10	ORPHA:110
HP:0001161	Hand polydactyly	123016	TTC8	ORPHA:110
HP:0001161	Hand polydactyly	583	BBS2	ORPHA:110
HP:0001161	Hand polydactyly	583	BBS2	OMIM:615981
HP:0001161	Hand polydactyly	585	BBS4	ORPHA:110
HP:0001161	Hand polydactyly	55212	BBS7	ORPHA:110
HP:0001161	Hand polydactyly	166379	BBS12	ORPHA:110
HP:0001161	Hand polydactyly	166379	BBS12	OMIM:615989
HP:0001161	Hand polydactyly	10806	SDCCAG8	ORPHA:110
HP:0001161	Hand polydactyly	157657	CFAP418	ORPHA:110
HP:0001161	Hand polydactyly	157657	CFAP418	OMIM:617406
HP:0001161	Hand polydactyly	129880	BBS5	ORPHA:110
HP:0001161	Hand polydactyly	80173	IFT74	ORPHA:110
HP:0001161	Hand polydactyly	79005	SCNM1	OMIM:620107
HP:0001161	Hand polydactyly	658	BMPR1B	ORPHA:2098
HP:0001161	Hand polydactyly	54499	TMCO1	OMIM:213980
HP:0001161	Hand polydactyly	2736	GLI2	OMIM:610829
HP:0001161	Hand polydactyly	51360	MBTPS2	OMIM:308205
HP:0001161	Hand polydactyly	51360	MBTPS2	ORPHA:85284
HP:0001161	Hand polydactyly	80210	ARMC9	OMIM:617622
HP:0001161	Hand polydactyly	9373	PLAA	ORPHA:521426
HP:0001161	Hand polydactyly	2316	FLNA	OMIM:304120
HP:0001161	Hand polydactyly	3930	LBR	OMIM:215140
HP:0001161	Hand polydactyly	2239	GPC4	ORPHA:373
HP:0001161	Hand polydactyly	2239	GPC4	OMIM:312870
HP:0001161	Hand polydactyly	2719	GPC3	ORPHA:373
HP:0001161	Hand polydactyly	2719	GPC3	OMIM:312870
HP:0001161	Hand polydactyly	51684	SUFU	OMIM:617757
HP:0001161	Hand polydactyly	257	ALX3	OMIM:136760
HP:0001161	Hand polydactyly	23288	IQCE	OMIM:617642
HP:0001161	Hand polydactyly	5567	PRKACB	OMIM:619143
HP:0001161	Hand polydactyly	137392	CIBAR1	OMIM:618219
HP:0001161	Hand polydactyly	7700	ZNF141	OMIM:615226
HP:0001161	Hand polydactyly	9851	KIAA0753	OMIM:617127
HP:0001161	Hand polydactyly	7046	TGFBR1	OMIM:609192
HP:0001161	Hand polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:233
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:959
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:2307
HP:0001161	Hand polydactyly	9935	MAFB	ORPHA:233
HP:0001161	Hand polydactyly	1123	CHN1	ORPHA:233
HP:0001161	Hand polydactyly	2137	EXTL3	ORPHA:508533
HP:0001161	Hand polydactyly	22827	PUF60	ORPHA:508498
HP:0001161	Hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0001161	Hand polydactyly	6608	SMO	OMIM:601707
HP:0001161	Hand polydactyly	6608	SMO	ORPHA:1553
HP:0001161	Hand polydactyly	4750	NEK1	OMIM:263520
HP:0001161	Hand polydactyly	2737	GLI3	OMIM:175700
HP:0001161	Hand polydactyly	2737	GLI3	ORPHA:380
HP:0001161	Hand polydactyly	2737	GLI3	OMIM:174200
HP:0001161	Hand polydactyly	64327	LMBR1	ORPHA:2378
HP:0001161	Hand polydactyly	64327	LMBR1	OMIM:174500
HP:0001161	Hand polydactyly	55027	HEATR3	OMIM:620072
HP:0001161	Hand polydactyly	6299	SALL1	OMIM:107480
HP:0001161	Hand polydactyly	6299	SALL1	ORPHA:857
HP:0001161	Hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001161	Hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001161	Hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001161	Hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001161	Hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001161	Hand polydactyly	374879	ZNF699	OMIM:619488
HP:0001161	Hand polydactyly	374654	KIF7	OMIM:200990
HP:0001161	Hand polydactyly	8318	CDC45	OMIM:617063
HP:0001161	Hand polydactyly	51339	DACT1	ORPHA:857
HP:0001161	Hand polydactyly	2177	FANCD2	OMIM:227646
HP:0001161	Hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001161	Hand polydactyly	23133	PHF8	ORPHA:85287
HP:0001161	Hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001161	Hand polydactyly	219844	HYLS1	OMIM:236680
HP:0001161	Hand polydactyly	26123	TCTN3	ORPHA:2753
HP:0001161	Hand polydactyly	26123	TCTN3	ORPHA:564
HP:0001161	Hand polydactyly	2697	GJA1	ORPHA:2710
HP:0001161	Hand polydactyly	3239	HOXD13	ORPHA:887
HP:0001161	Hand polydactyly	7020	TFAP2A	OMIM:113620
HP:0001161	Hand polydactyly	7020	TFAP2A	ORPHA:1297
HP:0001161	Hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001161	Hand polydactyly	79867	TCTN2	ORPHA:564
HP:0001161	Hand polydactyly	80776	B9D2	ORPHA:564
HP:0001161	Hand polydactyly	79600	TCTN1	ORPHA:564
HP:0001161	Hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001161	Hand polydactyly	79848	CSPP1	ORPHA:564
HP:0001161	Hand polydactyly	80184	CEP290	ORPHA:564
HP:0001161	Hand polydactyly	51259	TMEM216	ORPHA:564
HP:0001161	Hand polydactyly	57545	CC2D2A	ORPHA:564
HP:0001161	Hand polydactyly	79583	TMEM231	ORPHA:564
HP:0001161	Hand polydactyly	91147	TMEM67	ORPHA:564
HP:0001161	Hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001161	Hand polydactyly	27077	B9D1	ORPHA:564
HP:0001161	Hand polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001161	Hand polydactyly	54903	MKS1	ORPHA:564
HP:0001161	Hand polydactyly	65062	TMEM237	ORPHA:564
HP:0001161	Hand polydactyly	10815	CPLX1	ORPHA:280
HP:0001161	Hand polydactyly	10815	CPLX1	OMIM:194190
HP:0001161	Hand polydactyly	54872	PIGG	ORPHA:280
HP:0001161	Hand polydactyly	7469	NELFA	ORPHA:280
HP:0001161	Hand polydactyly	1487	CTBP1	ORPHA:280
HP:0001161	Hand polydactyly	1487	CTBP1	OMIM:194190
HP:0001161	Hand polydactyly	3954	LETM1	ORPHA:280
HP:0001161	Hand polydactyly	3954	LETM1	OMIM:194190
HP:0001161	Hand polydactyly	7468	NSD2	ORPHA:280
HP:0001161	Hand polydactyly	7468	NSD2	OMIM:194190
HP:0001161	Hand polydactyly	2735	GLI1	OMIM:174400
HP:0001161	Hand polydactyly	53834	FGFRL1	OMIM:194190
HP:0001161	Hand polydactyly	9343	EFTUD2	OMIM:610536
HP:0001161	Hand polydactyly	9343	EFTUD2	ORPHA:79113
HP:0001161	Hand polydactyly	2263	FGFR2	OMIM:101200
HP:0001161	Hand polydactyly	285600	KIAA0825	OMIM:618498
HP:0001161	Hand polydactyly	51057	WDPCP	OMIM:217085
HP:0001161	Hand polydactyly	1954	MEGF8	OMIM:614976
HP:0001161	Hand polydactyly	7021	TFAP2B	ORPHA:46627
HP:0001161	Hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0001161	Hand polydactyly	8195	MKKS	OMIM:236700
HP:0001161	Hand polydactyly	51776	MAP3K20	OMIM:616890
HP:0001161	Hand polydactyly	317662	FAM149B1	OMIM:618763
HP:0001161	Hand polydactyly	22856	CHSY1	ORPHA:363417
HP:0001161	Hand polydactyly	7291	TWIST1	OMIM:101400
HP:0005916	Abnormal metacarpal morphology	2720	GLB1	OMIM:253010
HP:0005916	Abnormal metacarpal morphology	2588	GALNS	OMIM:253000
HP:0005916	Abnormal metacarpal morphology	4313	MMP2	ORPHA:371428
HP:0005916	Abnormal metacarpal morphology	4313	MMP2	OMIM:259600
HP:0005916	Abnormal metacarpal morphology	4323	MMP14	ORPHA:371428
HP:0005916	Abnormal metacarpal morphology	4323	MMP14	OMIM:277950
HP:0005916	Abnormal metacarpal morphology	7030	TFE3	OMIM:301066
HP:0005916	Abnormal metacarpal morphology	9742	IFT140	OMIM:266920
HP:0005916	Abnormal metacarpal morphology	81794	ADAMTS10	OMIM:277600
HP:0005916	Abnormal metacarpal morphology	9935	MAFB	OMIM:166300
HP:0005916	Abnormal metacarpal morphology	9935	MAFB	ORPHA:2774
HP:0005916	Abnormal metacarpal morphology	64093	SMOC1	OMIM:206920
HP:0005916	Abnormal metacarpal morphology	4920	ROR2	OMIM:268310
HP:0005916	Abnormal metacarpal morphology	5980	REV3L	ORPHA:570
HP:0005916	Abnormal metacarpal morphology	23129	PLXND1	ORPHA:570
HP:0005916	Abnormal metacarpal morphology	7476	WNT7A	OMIM:276820
HP:0005916	Abnormal metacarpal morphology	7476	WNT7A	OMIM:228930
HP:0005916	Abnormal metacarpal morphology	8626	TP63	OMIM:605289
HP:0005916	Abnormal metacarpal morphology	6910	TBX5	ORPHA:392
HP:0005916	Abnormal metacarpal morphology	29957	SLC25A24	ORPHA:2095
HP:0005916	Abnormal metacarpal morphology	9791	PTDSS1	ORPHA:2658
HP:0005916	Abnormal metacarpal morphology	285590	SH3PXD2B	ORPHA:137834
HP:0005916	Abnormal metacarpal morphology	5728	PTEN	ORPHA:744
HP:0005916	Abnormal metacarpal morphology	207	AKT1	ORPHA:744
HP:0005916	Abnormal metacarpal morphology	1717	DHCR7	ORPHA:818
HP:0005916	Abnormal metacarpal morphology	3516	RBPJ	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	4851	NOTCH1	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	57514	ARHGAP31	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	57572	DOCK6	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	285203	EOGT	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	54567	DLL4	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	4038	LRP4	ORPHA:3258
HP:0005916	Abnormal metacarpal morphology	324	APC	ORPHA:3258
HP:0005916	Abnormal metacarpal morphology	2261	FGFR3	ORPHA:93262
HP:0005916	Abnormal metacarpal morphology	8195	MKKS	ORPHA:2473
HP:0005916	Abnormal metacarpal morphology	157570	ESCO2	ORPHA:2319
HP:0005916	Abnormal metacarpal morphology	157570	ESCO2	OMIM:268300
HP:0005916	Abnormal metacarpal morphology	1186	CLCN7	ORPHA:53
HP:0005916	Abnormal metacarpal morphology	51763	INPP5K	ORPHA:559
HP:0005916	Abnormal metacarpal morphology	4750	NEK1	ORPHA:2751
HP:0005916	Abnormal metacarpal morphology	4784	NFIX	OMIM:602535
HP:0005916	Abnormal metacarpal morphology	9365	KL	OMIM:617994
HP:0005916	Abnormal metacarpal morphology	171023	ASXL1	ORPHA:97297
HP:0005916	Abnormal metacarpal morphology	11342	RNF13	ORPHA:544503
HP:0005916	Abnormal metacarpal morphology	29895	MYL11	OMIM:619110
HP:0005916	Abnormal metacarpal morphology	6678	SPARC	OMIM:616507
HP:0005916	Abnormal metacarpal morphology	1281	COL3A1	OMIM:130050
HP:0005916	Abnormal metacarpal morphology	26229	B3GAT3	OMIM:245600
HP:0005916	Abnormal metacarpal morphology	2332	FMR1	OMIM:300624
HP:0005916	Abnormal metacarpal morphology	2990	GUSB	OMIM:253220
HP:0005916	Abnormal metacarpal morphology	65250	CPLANE1	OMIM:277170
HP:0005916	Abnormal metacarpal morphology	65250	CPLANE1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	27152	INTU	OMIM:617926
HP:0005916	Abnormal metacarpal morphology	10210	TOPORS	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	9851	KIAA0753	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	26123	TCTN3	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	5147	PDE6D	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	51259	TMEM216	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	8481	OFD1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	317662	FAM149B1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	374654	KIF7	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	9719	ADAMTSL2	OMIM:231050
HP:0005916	Abnormal metacarpal morphology	4041	LRP5	OMIM:144750
HP:0005916	Abnormal metacarpal morphology	6299	SALL1	OMIM:107480
HP:0005916	Abnormal metacarpal morphology	64135	IFIH1	OMIM:182250
HP:0005916	Abnormal metacarpal morphology	3835	KIF22	ORPHA:93360
HP:0005916	Abnormal metacarpal morphology	91179	SCARF2	OMIM:600920
HP:0005916	Abnormal metacarpal morphology	1297	COL9A1	ORPHA:166002
HP:0005916	Abnormal metacarpal morphology	1298	COL9A2	ORPHA:166002
HP:0005916	Abnormal metacarpal morphology	53834	FGFRL1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	1487	CTBP1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	3954	LETM1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	7468	NSD2	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	10815	CPLX1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	10084	PQBP1	OMIM:309500
HP:0005916	Abnormal metacarpal morphology	727857	BHLHA9	ORPHA:157801
HP:0005916	Abnormal metacarpal morphology	2192	FBLN1	OMIM:608180
HP:0005916	Abnormal metacarpal morphology	2254	FGF9	OMIM:612961
HP:0005916	Abnormal metacarpal morphology	7291	TWIST1	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	6938	TCF12	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	7545	ZIC1	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	4841	NONO	ORPHA:466791
HP:0005916	Abnormal metacarpal morphology	79848	CSPP1	ORPHA:397715
HP:0005916	Abnormal metacarpal morphology	9786	KIAA0586	ORPHA:397715
HP:0005916	Abnormal metacarpal morphology	4883	NPR3	OMIM:619543
HP:0005916	Abnormal metacarpal morphology	2535	FZD2	OMIM:164745
HP:0005916	Abnormal metacarpal morphology	2535	FZD2	ORPHA:93328
HP:0005916	Abnormal metacarpal morphology	23476	BRD4	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	9126	SMC3	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	8243	SMC1A	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	25836	NIPBL	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	55869	HDAC8	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	5885	RAD21	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	90	ACVR1	OMIM:135100
HP:0005916	Abnormal metacarpal morphology	57020	VPS35L	OMIM:619135
HP:0005916	Abnormal metacarpal morphology	3209	HOXA13	OMIM:140000
HP:0005916	Abnormal metacarpal morphology	3209	HOXA13	ORPHA:2438
HP:0005916	Abnormal metacarpal morphology	55215	FANCI	OMIM:609053
HP:0005916	Abnormal metacarpal morphology	6662	SOX9	OMIM:114290
HP:0005916	Abnormal metacarpal morphology	5116	PCNT	OMIM:210720
HP:0005916	Abnormal metacarpal morphology	26040	SETBP1	OMIM:269150
HP:0005916	Abnormal metacarpal morphology	26040	SETBP1	ORPHA:798
HP:0005916	Abnormal metacarpal morphology	388015	RTL1	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	8788	DLK1	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	55384	MEG3	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	3911	LAMA5	OMIM:620076
HP:0005916	Abnormal metacarpal morphology	124583	CANT1	OMIM:251450
HP:0005916	Abnormal metacarpal morphology	7516	XRCC2	OMIM:617247
HP:0005916	Abnormal metacarpal morphology	2177	FANCD2	OMIM:227646
HP:0005916	Abnormal metacarpal morphology	9896	FIG4	ORPHA:3472
HP:0005916	Abnormal metacarpal morphology	55697	VAC14	ORPHA:3472
HP:0005916	Abnormal metacarpal morphology	6469	SHH	ORPHA:93321
HP:0005916	Abnormal metacarpal morphology	7204	TRIO	ORPHA:476126
HP:0005916	Abnormal metacarpal morphology	2737	GLI3	ORPHA:93322
HP:0005916	Abnormal metacarpal morphology	658	BMPR1B	ORPHA:93396
HP:0005916	Abnormal metacarpal morphology	94005	PIGS	OMIM:618143
HP:0005916	Abnormal metacarpal morphology	6473	SHOX	OMIM:127300
HP:0005916	Abnormal metacarpal morphology	6736	SRY	ORPHA:1772
HP:0005916	Abnormal metacarpal morphology	79633	FAT4	OMIM:615546
HP:0005916	Abnormal metacarpal morphology	8642	DCHS1	OMIM:601390
HP:0005916	Abnormal metacarpal morphology	26224	FBXL3	OMIM:606220
HP:0005916	Abnormal metacarpal morphology	5727	PTCH1	OMIM:109400
HP:0005916	Abnormal metacarpal morphology	6926	TBX3	OMIM:181450
HP:0005916	Abnormal metacarpal morphology	55612	FERMT1	ORPHA:2908
HP:0005916	Abnormal metacarpal morphology	650	BMP2	OMIM:617877
HP:0005916	Abnormal metacarpal morphology	374969	SVBP	OMIM:618569
HP:0005916	Abnormal metacarpal morphology	860	RUNX2	OMIM:156510
HP:0005916	Abnormal metacarpal morphology	8823	FGF16	OMIM:309630
HP:0005916	Abnormal metacarpal morphology	9241	NOG	OMIM:185800
HP:0005916	Abnormal metacarpal morphology	64327	LMBR1	OMIM:200500
HP:0005916	Abnormal metacarpal morphology	57167	SALL4	OMIM:607323
HP:0005916	Abnormal metacarpal morphology	2137	EXTL3	ORPHA:508533
HP:0005916	Abnormal metacarpal morphology	1280	COL2A1	OMIM:271700
HP:0005916	Abnormal metacarpal morphology	1280	COL2A1	OMIM:609162
HP:0005916	Abnormal metacarpal morphology	9361	LONP1	OMIM:600373
HP:0005916	Abnormal metacarpal morphology	9361	LONP1	ORPHA:1458
HP:0005916	Abnormal metacarpal morphology	5573	PRKAR1A	ORPHA:950
HP:0005916	Abnormal metacarpal morphology	5573	PRKAR1A	OMIM:101800
HP:0005916	Abnormal metacarpal morphology	5573	PRKAR1A	ORPHA:280651
HP:0005916	Abnormal metacarpal morphology	5144	PDE4D	ORPHA:950
HP:0005916	Abnormal metacarpal morphology	5144	PDE4D	ORPHA:439822
HP:0005916	Abnormal metacarpal morphology	5144	PDE4D	OMIM:614613
HP:0005916	Abnormal metacarpal morphology	5144	PDE4D	ORPHA:280651
HP:0005916	Abnormal metacarpal morphology	64374	SIL1	OMIM:248800
HP:0005916	Abnormal metacarpal morphology	4921	DDR2	OMIM:271665
HP:0005916	Abnormal metacarpal morphology	54808	DYM	OMIM:607326
HP:0005916	Abnormal metacarpal morphology	54808	DYM	OMIM:223800
HP:0005916	Abnormal metacarpal morphology	2131	EXT1	OMIM:133700
HP:0005916	Abnormal metacarpal morphology	2131	EXT1	ORPHA:321
HP:0005916	Abnormal metacarpal morphology	2132	EXT2	OMIM:133701
HP:0005916	Abnormal metacarpal morphology	2132	EXT2	ORPHA:321
HP:0005916	Abnormal metacarpal morphology	2879	GPX4	ORPHA:93317
HP:0005916	Abnormal metacarpal morphology	2879	GPX4	OMIM:250220
HP:0005916	Abnormal metacarpal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005916	Abnormal metacarpal morphology	100151683	RNU4ATAC	OMIM:616651
HP:0005916	Abnormal metacarpal morphology	6885	MAP3K7	OMIM:617137
HP:0005916	Abnormal metacarpal morphology	6885	MAP3K7	ORPHA:1826
HP:0005916	Abnormal metacarpal morphology	9759	HDAC4	ORPHA:1001
HP:0005916	Abnormal metacarpal morphology	9759	HDAC4	OMIM:600430
HP:0005916	Abnormal metacarpal morphology	89970	RSPRY1	OMIM:616723
HP:0005916	Abnormal metacarpal morphology	89970	RSPRY1	ORPHA:457395
HP:0005916	Abnormal metacarpal morphology	55733	HHAT	OMIM:600092
HP:0005916	Abnormal metacarpal morphology	55733	HHAT	ORPHA:1422
HP:0005916	Abnormal metacarpal morphology	5447	POR	ORPHA:95699
HP:0005916	Abnormal metacarpal morphology	1836	SLC26A2	ORPHA:56304
HP:0005916	Abnormal metacarpal morphology	1836	SLC26A2	ORPHA:93307
HP:0005916	Abnormal metacarpal morphology	1836	SLC26A2	OMIM:226900
HP:0005916	Abnormal metacarpal morphology	114803	MYSM1	ORPHA:508542
HP:0005916	Abnormal metacarpal morphology	149775	GNAS-AS1	OMIM:603233
HP:0005916	Abnormal metacarpal morphology	8675	STX16	OMIM:603233
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	OMIM:603233
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	OMIM:612463
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	OMIM:612462
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	ORPHA:79444
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	OMIM:103580
HP:0005916	Abnormal metacarpal morphology	8200	GDF5	OMIM:228900
HP:0005916	Abnormal metacarpal morphology	8200	GDF5	ORPHA:968
HP:0005916	Abnormal metacarpal morphology	117581	TWIST2	OMIM:200110
HP:0005916	Abnormal metacarpal morphology	10847	SRCAP	ORPHA:2044
HP:0005916	Abnormal metacarpal morphology	25782	RAB3GAP2	OMIM:212720
HP:0005916	Abnormal metacarpal morphology	5744	PTHLH	ORPHA:93387
HP:0005916	Abnormal metacarpal morphology	5744	PTHLH	OMIM:613382
HP:0005916	Abnormal metacarpal morphology	3239	HOXD13	ORPHA:93387
HP:0005916	Abnormal metacarpal morphology	3239	HOXD13	OMIM:113300
HP:0005916	Abnormal metacarpal morphology	10225	CD96	OMIM:211750
HP:0005916	Abnormal metacarpal morphology	64175	P3H1	OMIM:610915
HP:0005916	Abnormal metacarpal morphology	6197	RPS6KA3	OMIM:303600
HP:0005916	Abnormal metacarpal morphology	6197	RPS6KA3	ORPHA:192
HP:0005916	Abnormal metacarpal morphology	9469	CHST3	ORPHA:263463
HP:0005916	Abnormal metacarpal morphology	9469	CHST3	OMIM:143095
HP:0005916	Abnormal metacarpal morphology	54496	PRMT7	OMIM:617157
HP:0005916	Abnormal metacarpal morphology	64131	XYLT1	OMIM:615777
HP:0005916	Abnormal metacarpal morphology	2200	FBN1	ORPHA:969
HP:0005916	Abnormal metacarpal morphology	2200	FBN1	OMIM:608328
HP:0005916	Abnormal metacarpal morphology	2200	FBN1	OMIM:102370
HP:0005916	Abnormal metacarpal morphology	4054	LTBP3	ORPHA:969
HP:0005916	Abnormal metacarpal morphology	3759	KCNJ2	OMIM:170390
HP:0005916	Abnormal metacarpal morphology	2317	FLNB	OMIM:108720
HP:0005916	Abnormal metacarpal morphology	2317	FLNB	OMIM:272460
HP:0005916	Abnormal metacarpal morphology	2317	FLNB	OMIM:150250
HP:0005916	Abnormal metacarpal morphology	157680	VPS13B	OMIM:216550
HP:0005916	Abnormal metacarpal morphology	5139	PDE3A	OMIM:112410
HP:0005916	Abnormal metacarpal morphology	5139	PDE3A	ORPHA:1276
HP:0005916	Abnormal metacarpal morphology	3549	IHH	OMIM:607778
HP:0005916	Abnormal metacarpal morphology	3549	IHH	OMIM:112500
HP:0005916	Abnormal metacarpal morphology	633	BGN	OMIM:300106
HP:0005916	Abnormal metacarpal morphology	5745	PTH1R	ORPHA:50945
HP:0005916	Abnormal metacarpal morphology	1311	COMP	OMIM:132400
HP:0005916	Abnormal metacarpal morphology	1311	COMP	OMIM:177170
HP:0005916	Abnormal metacarpal morphology	29980	DONSON	OMIM:617604
HP:0005916	Abnormal metacarpal morphology	64840	PORCN	OMIM:305600
HP:0005916	Abnormal metacarpal morphology	4882	NPR2	OMIM:602875
HP:0005916	Abnormal metacarpal morphology	145173	B3GLCT	OMIM:261540
HP:0005916	Abnormal metacarpal morphology	9401	RECQL4	ORPHA:221016
HP:0005916	Abnormal metacarpal morphology	5593	PRKG2	OMIM:619636
HP:0005916	Abnormal metacarpal morphology	10283	CWC27	OMIM:250410
HP:0005916	Abnormal metacarpal morphology	10283	CWC27	ORPHA:166035
HP:0005916	Abnormal metacarpal morphology	4810	NHS	ORPHA:627
HP:0005916	Abnormal metacarpal morphology	25839	COG4	OMIM:618150
HP:0005916	Abnormal metacarpal morphology	3636	INPPL1	OMIM:258480
HP:0005916	Abnormal metacarpal morphology	9321	TRIP11	OMIM:184260
HP:0005916	Abnormal metacarpal morphology	5130	PCYT1A	ORPHA:85167
HP:0005916	Abnormal metacarpal morphology	5130	PCYT1A	OMIM:608940
HP:0005916	Abnormal metacarpal morphology	54928	BPNT2	OMIM:614078
HP:0005916	Abnormal metacarpal morphology	51098	IFT52	OMIM:617102
HP:0005916	Abnormal metacarpal morphology	1299	COL9A3	OMIM:600969
HP:0005916	Abnormal metacarpal morphology	2316	FLNA	OMIM:304120
HP:0005916	Abnormal metacarpal morphology	2316	FLNA	ORPHA:1826
HP:0005916	Abnormal metacarpal morphology	4148	MATN3	OMIM:607078
HP:0005916	Abnormal metacarpal morphology	126792	B3GALT6	OMIM:271640
HP:0005916	Abnormal metacarpal morphology	55252	ASXL2	OMIM:617190
HP:0005916	Abnormal metacarpal morphology	3930	LBR	OMIM:215140
HP:0005916	Abnormal metacarpal morphology	5264	PHYH	ORPHA:773
HP:0005916	Abnormal metacarpal morphology	5191	PEX7	ORPHA:773
HP:0005916	Abnormal metacarpal morphology	23483	TGDS	OMIM:616145
HP:0005916	Abnormal metacarpal morphology	2260	FGFR1	OMIM:166250
HP:0005916	Abnormal metacarpal morphology	1788	DNMT3A	OMIM:618724
HP:0005916	Abnormal metacarpal morphology	1302	COL11A2	ORPHA:1427
HP:0005916	Abnormal metacarpal morphology	22856	CHSY1	OMIM:605282
HP:0005916	Abnormal metacarpal morphology	6595	SMARCA2	OMIM:601358
HP:0005916	Abnormal metacarpal morphology	9775	EIF4A3	OMIM:268305
HP:0005916	Abnormal metacarpal morphology	54101	RIPK4	OMIM:263650
HP:0005916	Abnormal metacarpal morphology	83452	RAB33B	OMIM:615222
HP:0005916	Abnormal metacarpal morphology	91252	SLC39A13	OMIM:612350
HP:0005916	Abnormal metacarpal morphology	57560	IFT80	OMIM:611263
HP:0005916	Abnormal metacarpal morphology	25871	NEPRO	OMIM:618853
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	OMIM:190350
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	OMIM:190351
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	ORPHA:77258
HP:0005916	Abnormal metacarpal morphology	90417	KNSTRN	OMIM:613328
HP:0005916	Abnormal metacarpal morphology	5293	PIK3CD	OMIM:613328
HP:0005916	Abnormal metacarpal morphology	25886	POC1A	OMIM:614813
HP:0005916	Abnormal metacarpal morphology	6023	RMRP	OMIM:250460
HP:0005916	Abnormal metacarpal morphology	64682	ANAPC1	ORPHA:221008
HP:0005916	Abnormal metacarpal morphology	64324	NSD1	OMIM:117550
HP:0005916	Abnormal metacarpal morphology	10216	PRG4	OMIM:208250
HP:0005916	Abnormal metacarpal morphology	10804	GJB6	ORPHA:189
HP:0005916	Abnormal metacarpal morphology	654	BMP6	ORPHA:465508
HP:0005916	Abnormal metacarpal morphology	3077	HFE	ORPHA:465508
HP:0005916	Abnormal metacarpal morphology	6775	STAT4	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	3560	IL2RB	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	79722	ANKRD55	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	26191	PTPN22	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	919	CD247	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	3559	IL2RA	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	5771	PTPN2	ORPHA:85408
HP:0004279	Short palm	3480	IGF1R	ORPHA:73273
HP:0004279	Short palm	4921	DDR2	OMIM:271665
HP:0004279	Short palm	22827	PUF60	ORPHA:508498
HP:0004279	Short palm	2245	FGD1	OMIM:305400
HP:0004279	Short palm	2245	FGD1	ORPHA:915
HP:0004279	Short palm	22856	CHSY1	ORPHA:363417
HP:0004279	Short palm	2879	GPX4	ORPHA:93317
HP:0004279	Short palm	124997	WDR81	OMIM:610185
HP:0004279	Short palm	9759	HDAC4	ORPHA:1001
HP:0004279	Short palm	118429	ANTXR2	ORPHA:2176
HP:0004279	Short palm	2261	FGFR3	ORPHA:53271
HP:0004279	Short palm	55777	MBD5	ORPHA:228402
HP:0004279	Short palm	55777	MBD5	OMIM:156200
HP:0004279	Short palm	7681	MKRN3	OMIM:176270
HP:0004279	Short palm	3653	IPW	OMIM:176270
HP:0004279	Short palm	54551	MAGEL2	OMIM:176270
HP:0004279	Short palm	791114	PWRN1	OMIM:176270
HP:0004279	Short palm	100033413	SNORD116-1	OMIM:176270
HP:0004279	Short palm	8924	HERC2	OMIM:176270
HP:0004279	Short palm	145624	PWAR1	OMIM:176270
HP:0004279	Short palm	23742	NPAP1	OMIM:176270
HP:0004279	Short palm	338433	SNORD115-1	OMIM:176270
HP:0004279	Short palm	9401	RECQL4	OMIM:268400
HP:0004279	Short palm	1302	COL11A2	OMIM:215150
HP:0004279	Short palm	55112	DYNC2I1	ORPHA:93271
HP:0004279	Short palm	57560	IFT80	ORPHA:93271
HP:0004279	Short palm	57539	WDR35	ORPHA:93271
HP:0004279	Short palm	79659	DYNC2H1	ORPHA:93271
HP:0004279	Short palm	89891	DYNC2I2	ORPHA:93271
HP:0004279	Short palm	613	BCR	ORPHA:261330
HP:0004279	Short palm	1399	CRKL	ORPHA:261330
HP:0004279	Short palm	5594	MAPK1	ORPHA:261330
HP:0004279	Short palm	2623	GATA1	OMIM:190685
HP:0004279	Short palm	23030	KDM4B	OMIM:619320
HP:0004279	Short palm	79639	TMEM53	OMIM:619727
HP:0004279	Short palm	55249	YY1AP1	ORPHA:79094
HP:0004279	Short palm	10982	MAPRE2	OMIM:616734
HP:0004279	Short palm	25782	RAB3GAP2	OMIM:212720
HP:0004279	Short palm	6023	RMRP	ORPHA:175
HP:0004279	Short palm	6023	RMRP	OMIM:607095
HP:0004279	Short palm	6023	RMRP	OMIM:250250
HP:0004279	Short palm	3549	IHH	ORPHA:63446
HP:0004279	Short palm	3549	IHH	OMIM:607778
HP:0004279	Short palm	3549	IHH	OMIM:112500
HP:0004279	Short palm	818	CAMK2G	OMIM:618522
HP:0004279	Short palm	4998	ORC1	OMIM:224690
HP:0004279	Short palm	1778	DYNC1H1	OMIM:614563
HP:0004279	Short palm	2200	FBN1	ORPHA:969
HP:0004279	Short palm	2200	FBN1	OMIM:614185
HP:0004279	Short palm	2200	FBN1	OMIM:102370
HP:0004279	Short palm	4054	LTBP3	ORPHA:969
HP:0004279	Short palm	3759	KCNJ2	OMIM:170390
HP:0004279	Short palm	2260	FGFR1	ORPHA:93258
HP:0004279	Short palm	2260	FGFR1	OMIM:166250
HP:0004279	Short palm	2263	FGFR2	ORPHA:93258
HP:0004279	Short palm	5745	PTH1R	ORPHA:79106
HP:0004279	Short palm	222663	SCUBE3	OMIM:619184
HP:0004279	Short palm	80311	KLHL15	OMIM:300982
HP:0004279	Short palm	727857	BHLHA9	ORPHA:157801
HP:0004279	Short palm	10943	MSL3	OMIM:301032
HP:0004279	Short palm	633	BGN	OMIM:300106
HP:0004279	Short palm	1301	COL11A1	OMIM:228520
HP:0004279	Short palm	55012	PPP2R3C	OMIM:618419
HP:0004279	Short palm	5573	PRKAR1A	OMIM:101800
HP:0004279	Short palm	25942	SIN3A	OMIM:613406
HP:0004279	Short palm	64374	SIL1	ORPHA:559
HP:0004279	Short palm	51763	INPP5K	ORPHA:559
HP:0004279	Short palm	9487	PIGL	ORPHA:3474
HP:0004279	Short palm	9244	CRLF1	OMIM:272430
HP:0004279	Short palm	4000	LMNA	ORPHA:79474
HP:0004279	Short palm	2316	FLNA	ORPHA:90650
HP:0004279	Short palm	2316	FLNA	ORPHA:90652
HP:0004279	Short palm	9241	NOG	ORPHA:3237
HP:0004279	Short palm	8200	GDF5	ORPHA:3237
HP:0004279	Short palm	2254	FGF9	ORPHA:3237
HP:0004279	Short palm	6885	MAP3K7	ORPHA:3238
HP:0004279	Short palm	9321	TRIP11	ORPHA:166272
HP:0004279	Short palm	9321	TRIP11	ORPHA:93299
HP:0004279	Short palm	538	ATP7A	ORPHA:198
HP:0004279	Short palm	6905	TBCE	OMIM:241410
HP:0004279	Short palm	6905	TBCE	OMIM:244460
HP:0004279	Short palm	145173	B3GLCT	OMIM:261540
HP:0004279	Short palm	1857	DVL3	ORPHA:3107
HP:0004279	Short palm	7474	WNT5A	ORPHA:3107
HP:0004279	Short palm	7474	WNT5A	OMIM:180700
HP:0004279	Short palm	1855	DVL1	ORPHA:3107
HP:0004279	Short palm	1855	DVL1	OMIM:180700
HP:0004279	Short palm	2535	FZD2	ORPHA:3107
HP:0004279	Short palm	2535	FZD2	ORPHA:93328
HP:0004279	Short palm	9791	PTDSS1	ORPHA:2658
HP:0004279	Short palm	2121	EVC	OMIM:193530
HP:0004279	Short palm	132884	EVC2	OMIM:193530
HP:0004279	Short palm	10013	HDAC6	ORPHA:163966
HP:0004279	Short palm	79753	SNIP1	OMIM:614501
HP:0004279	Short palm	9719	ADAMTSL2	OMIM:231050
HP:0004279	Short palm	4796	TONSL	ORPHA:93357
HP:0004279	Short palm	10236	HNRNPR	OMIM:620073
HP:0004279	Short palm	79718	TBL1XR1	OMIM:602342
HP:0004279	Short palm	6595	SMARCA2	ORPHA:3051
HP:0004279	Short palm	1298	COL9A2	OMIM:600204
HP:0004279	Short palm	3636	INPPL1	OMIM:258480
HP:0004279	Short palm	285590	SH3PXD2B	OMIM:249420
HP:0004279	Short palm	5159	PDGFRB	OMIM:601812
HP:0004279	Short palm	23522	KAT6B	ORPHA:85201
HP:0004279	Short palm	7204	TRIO	ORPHA:476126
HP:0004279	Short palm	3845	KRAS	ORPHA:3339
HP:0004279	Short palm	28957	MRPS28	OMIM:618958
HP:0004279	Short palm	23261	CAMTA1	OMIM:614756
HP:0004279	Short palm	8450	CUL4B	ORPHA:85293
HP:0004279	Short palm	25839	COG4	ORPHA:85172
HP:0004279	Short palm	6925	TCF4	OMIM:610954
HP:0004279	Short palm	4920	ROR2	OMIM:268310
HP:0004279	Short palm	5295	PIK3R1	ORPHA:3163
HP:0004279	Short palm	8813	DPM1	OMIM:608799
HP:0004279	Short palm	10743	RAI1	OMIM:182290
HP:0004279	Short palm	8242	KDM5C	ORPHA:85279
HP:0004279	Short palm	89970	RSPRY1	ORPHA:457395
HP:0004279	Short palm	100151683	RNU4ATAC	ORPHA:2636
HP:0004279	Short palm	1280	COL2A1	ORPHA:85166
HP:0004279	Short palm	51322	WAC	ORPHA:466950
HP:0004279	Short palm	147372	CCBE1	OMIM:235510
HP:0004279	Short palm	29123	ANKRD11	OMIM:148050
HP:0004279	Short palm	2719	GPC3	OMIM:312870
HP:0004279	Short palm	2239	GPC4	OMIM:312870
HP:0004279	Short palm	7227	TRPS1	OMIM:190351
HP:0004279	Short palm	3516	RBPJ	OMIM:614814
HP:0004279	Short palm	4089	SMAD4	ORPHA:2588
HP:0001166	Arachnodactyly	64132	XYLT2	OMIM:605822
HP:0001166	Arachnodactyly	4088	SMAD3	ORPHA:284984
HP:0001166	Arachnodactyly	4088	SMAD3	OMIM:613795
HP:0001166	Arachnodactyly	4088	SMAD3	ORPHA:91387
HP:0001166	Arachnodactyly	875	CBS	ORPHA:394
HP:0001166	Arachnodactyly	875	CBS	OMIM:236200
HP:0001166	Arachnodactyly	25970	SH2B1	ORPHA:261222
HP:0001166	Arachnodactyly	199857	ALG14	OMIM:619036
HP:0001166	Arachnodactyly	8925	HERC1	OMIM:617011
HP:0001166	Arachnodactyly	8925	HERC1	ORPHA:457359
HP:0001166	Arachnodactyly	1075	CTSC	OMIM:245010
HP:0001166	Arachnodactyly	1075	CTSC	ORPHA:678
HP:0001166	Arachnodactyly	5351	PLOD1	OMIM:225400
HP:0001166	Arachnodactyly	8076	MFAP5	OMIM:616166
HP:0001166	Arachnodactyly	8076	MFAP5	ORPHA:91387
HP:0001166	Arachnodactyly	57122	NUP107	OMIM:618348
HP:0001166	Arachnodactyly	57122	NUP107	OMIM:616730
HP:0001166	Arachnodactyly	57122	NUP107	ORPHA:243
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:284979
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:154700
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:604308
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:616914
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:2462
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:91387
HP:0001166	Arachnodactyly	5447	POR	ORPHA:95699
HP:0001166	Arachnodactyly	5447	POR	OMIM:207410
HP:0001166	Arachnodactyly	5447	POR	OMIM:201750
HP:0001166	Arachnodactyly	1301	COL11A1	OMIM:604841
HP:0001166	Arachnodactyly	91179	SCARF2	OMIM:600920
HP:0001166	Arachnodactyly	613	BCR	ORPHA:261330
HP:0001166	Arachnodactyly	1399	CRKL	ORPHA:261330
HP:0001166	Arachnodactyly	5594	MAPK1	ORPHA:261330
HP:0001166	Arachnodactyly	3021	H3-3B	OMIM:619721
HP:0001166	Arachnodactyly	80816	ASXL3	OMIM:615485
HP:0001166	Arachnodactyly	80816	ASXL3	ORPHA:352577
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:617146
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:108145
HP:0001166	Arachnodactyly	63895	PIEZO2	ORPHA:1154
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:248700
HP:0001166	Arachnodactyly	63895	PIEZO2	ORPHA:2461
HP:0001166	Arachnodactyly	23314	SATB2	ORPHA:251019
HP:0001166	Arachnodactyly	23314	SATB2	OMIM:612313
HP:0001166	Arachnodactyly	2263	FGFR2	OMIM:207410
HP:0001166	Arachnodactyly	126792	B3GALT6	ORPHA:2725
HP:0001166	Arachnodactyly	126792	B3GALT6	ORPHA:536467
HP:0001166	Arachnodactyly	72	ACTG2	ORPHA:2604
HP:0001166	Arachnodactyly	2261	FGFR3	OMIM:610474
HP:0001166	Arachnodactyly	2201	FBN2	OMIM:121050
HP:0001166	Arachnodactyly	2201	FBN2	ORPHA:115
HP:0001166	Arachnodactyly	30008	EFEMP2	OMIM:614437
HP:0001166	Arachnodactyly	4882	NPR2	OMIM:615923
HP:0001166	Arachnodactyly	10084	PQBP1	ORPHA:93946
HP:0001166	Arachnodactyly	51114	ZDHHC9	ORPHA:776
HP:0001166	Arachnodactyly	51114	ZDHHC9	OMIM:300799
HP:0001166	Arachnodactyly	65109	UPF3B	ORPHA:776
HP:0001166	Arachnodactyly	9968	MED12	ORPHA:776
HP:0001166	Arachnodactyly	9968	MED12	OMIM:309520
HP:0001166	Arachnodactyly	79693	YRDC	OMIM:619609
HP:0001166	Arachnodactyly	1146	CHRNG	OMIM:265000
HP:0001166	Arachnodactyly	2316	FLNA	OMIM:305620
HP:0001166	Arachnodactyly	284058	KANSL1	ORPHA:363958
HP:0001166	Arachnodactyly	284058	KANSL1	ORPHA:363965
HP:0001166	Arachnodactyly	1272	CNTN1	OMIM:612540
HP:0001166	Arachnodactyly	29920	PYCR2	ORPHA:481152
HP:0001166	Arachnodactyly	29920	PYCR2	OMIM:616420
HP:0001166	Arachnodactyly	29940	DSE	OMIM:615539
HP:0001166	Arachnodactyly	1312	COMT	ORPHA:567
HP:0001166	Arachnodactyly	221037	JMJD1C	ORPHA:567
HP:0001166	Arachnodactyly	2812	GP1BB	ORPHA:567
HP:0001166	Arachnodactyly	6239	RREB1	ORPHA:567
HP:0001166	Arachnodactyly	6899	TBX1	ORPHA:567
HP:0001166	Arachnodactyly	7290	HIRA	ORPHA:567
HP:0001166	Arachnodactyly	9632	SEC24C	ORPHA:567
HP:0001166	Arachnodactyly	7353	UFD1	ORPHA:567
HP:0001166	Arachnodactyly	421	ARVCF	ORPHA:567
HP:0001166	Arachnodactyly	444	ASPH	OMIM:601552
HP:0001166	Arachnodactyly	9839	ZEB2	ORPHA:261552
HP:0001166	Arachnodactyly	9839	ZEB2	ORPHA:261537
HP:0001166	Arachnodactyly	10815	CPLX1	ORPHA:280
HP:0001166	Arachnodactyly	54872	PIGG	ORPHA:280
HP:0001166	Arachnodactyly	7469	NELFA	ORPHA:280
HP:0001166	Arachnodactyly	1487	CTBP1	ORPHA:280
HP:0001166	Arachnodactyly	3954	LETM1	ORPHA:280
HP:0001166	Arachnodactyly	7468	NSD2	ORPHA:280
HP:0001166	Arachnodactyly	633	BGN	OMIM:300989
HP:0001166	Arachnodactyly	79576	NKAP	OMIM:301039
HP:0001166	Arachnodactyly	3188	HNRNPH2	OMIM:300986
HP:0001166	Arachnodactyly	25	ABL1	OMIM:617602
HP:0001166	Arachnodactyly	23152	CIC	OMIM:617600
HP:0001166	Arachnodactyly	649	BMP1	OMIM:614856
HP:0001166	Arachnodactyly	89910	UBE3B	ORPHA:2707
HP:0001166	Arachnodactyly	25942	SIN3A	OMIM:613406
HP:0001166	Arachnodactyly	55644	OSGEP	OMIM:617729
HP:0001166	Arachnodactyly	165	AEBP1	ORPHA:536532
HP:0001166	Arachnodactyly	11285	B4GALT7	ORPHA:75496
HP:0001166	Arachnodactyly	11285	B4GALT7	OMIM:130070
HP:0001166	Arachnodactyly	1798	DPAGT1	ORPHA:86309
HP:0001166	Arachnodactyly	6611	SMS	ORPHA:3063
HP:0001166	Arachnodactyly	157680	VPS13B	ORPHA:193
HP:0001166	Arachnodactyly	10526	IPO8	OMIM:619472
HP:0001166	Arachnodactyly	10526	IPO8	ORPHA:60030
HP:0001166	Arachnodactyly	8270	LAGE3	OMIM:301006
HP:0001166	Arachnodactyly	490	ATP2B1	OMIM:619910
HP:0001166	Arachnodactyly	259232	NALCN	ORPHA:371364
HP:0001166	Arachnodactyly	285175	UNC80	ORPHA:371364
HP:0001166	Arachnodactyly	81031	SLC2A10	ORPHA:3342
HP:0001166	Arachnodactyly	81031	SLC2A10	OMIM:208050
HP:0001166	Arachnodactyly	4534	MTM1	OMIM:310400
HP:0001166	Arachnodactyly	1280	COL2A1	OMIM:108300
HP:0001166	Arachnodactyly	5184	PEPD	ORPHA:742
HP:0001166	Arachnodactyly	113189	CHST14	OMIM:601776
HP:0001166	Arachnodactyly	715	C1R	OMIM:130080
HP:0001166	Arachnodactyly	51633	OTUD6B	ORPHA:505237
HP:0001166	Arachnodactyly	60676	PAPPA2	OMIM:619489
HP:0001166	Arachnodactyly	1742	DLG4	OMIM:618793
HP:0001166	Arachnodactyly	6605	SMARCE1	OMIM:616938
HP:0001166	Arachnodactyly	11107	PRDM5	ORPHA:90354
HP:0001166	Arachnodactyly	84627	ZNF469	ORPHA:90354
HP:0001166	Arachnodactyly	139285	AMER1	OMIM:300373
HP:0001166	Arachnodactyly	3187	HNRNPH1	OMIM:620083
HP:0001166	Arachnodactyly	5727	PTCH1	ORPHA:377
HP:0001166	Arachnodactyly	8643	PTCH2	ORPHA:377
HP:0001166	Arachnodactyly	51684	SUFU	ORPHA:377
HP:0001166	Arachnodactyly	6497	SKI	OMIM:182212
HP:0001166	Arachnodactyly	6497	SKI	ORPHA:2462
HP:0001166	Arachnodactyly	4677	NARS1	OMIM:619092
HP:0001166	Arachnodactyly	6651	SON	ORPHA:500150
HP:0001166	Arachnodactyly	2193	FARSA	OMIM:619013
HP:0001166	Arachnodactyly	10273	STUB1	ORPHA:412057
HP:0001166	Arachnodactyly	4087	SMAD2	OMIM:619656
HP:0001166	Arachnodactyly	4087	SMAD2	ORPHA:91387
HP:0001166	Arachnodactyly	7048	TGFBR2	OMIM:610168
HP:0001166	Arachnodactyly	7048	TGFBR2	ORPHA:60030
HP:0001166	Arachnodactyly	7048	TGFBR2	ORPHA:91387
HP:0001166	Arachnodactyly	10516	FBLN5	OMIM:219100
HP:0001166	Arachnodactyly	23133	PHF8	OMIM:300263
HP:0001166	Arachnodactyly	29893	PSMC3IP	ORPHA:243
HP:0001166	Arachnodactyly	171568	POLR3H	ORPHA:243
HP:0001166	Arachnodactyly	2516	NR5A1	ORPHA:243
HP:0001166	Arachnodactyly	125150	ZSWIM7	ORPHA:243
HP:0001166	Arachnodactyly	9210	BMP15	ORPHA:243
HP:0001166	Arachnodactyly	23514	SPIDR	ORPHA:243
HP:0001166	Arachnodactyly	2492	FSHR	ORPHA:243
HP:0001166	Arachnodactyly	56945	MRPS22	ORPHA:243
HP:0001166	Arachnodactyly	646	BNC1	ORPHA:243
HP:0001166	Arachnodactyly	55553	SOX6	OMIM:618971
HP:0001166	Arachnodactyly	4883	NPR3	OMIM:619543
HP:0001166	Arachnodactyly	7043	TGFB3	OMIM:615582
HP:0001166	Arachnodactyly	7043	TGFB3	ORPHA:91387
HP:0001166	Arachnodactyly	7046	TGFBR1	ORPHA:60030
HP:0001166	Arachnodactyly	7046	TGFBR1	OMIM:609192
HP:0001166	Arachnodactyly	7046	TGFBR1	ORPHA:91387
HP:0001166	Arachnodactyly	56603	CYP26B1	OMIM:614416
HP:0001166	Arachnodactyly	7042	TGFB2	OMIM:614816
HP:0001166	Arachnodactyly	7042	TGFB2	ORPHA:91387
HP:0001166	Arachnodactyly	4629	MYH11	ORPHA:91387
HP:0001166	Arachnodactyly	4015	LOX	ORPHA:91387
HP:0001166	Arachnodactyly	4089	SMAD4	ORPHA:91387
HP:0001166	Arachnodactyly	59	ACTA2	ORPHA:91387
HP:0001166	Arachnodactyly	5592	PRKG1	ORPHA:91387
HP:0001166	Arachnodactyly	2301	FOXE3	ORPHA:91387
HP:0001166	Arachnodactyly	4144	MAT2A	ORPHA:91387
HP:0001166	Arachnodactyly	23493	HEY2	ORPHA:91387
HP:0001166	Arachnodactyly	4638	MYLK	ORPHA:91387
HP:0001166	Arachnodactyly	2006	ELN	ORPHA:91387
HP:0001167	Abnormal finger morphology	54806	AHI1	ORPHA:475
HP:0001167	Abnormal finger morphology	54806	AHI1	ORPHA:220493
HP:0001167	Abnormal finger morphology	200894	ARL13B	ORPHA:475
HP:0001167	Abnormal finger morphology	9731	CEP104	ORPHA:475
HP:0001167	Abnormal finger morphology	23247	KATNIP	ORPHA:475
HP:0001167	Abnormal finger morphology	219854	TMEM218	ORPHA:475
HP:0001167	Abnormal finger morphology	95681	CEP41	ORPHA:475
HP:0001167	Abnormal finger morphology	95681	CEP41	ORPHA:220493
HP:0001167	Abnormal finger morphology	9786	KIAA0586	ORPHA:475
HP:0001167	Abnormal finger morphology	10464	PIBF1	ORPHA:475
HP:0001167	Abnormal finger morphology	23116	TOGARAM1	ORPHA:475
HP:0001167	Abnormal finger morphology	25776	CBY1	ORPHA:475
HP:0001167	Abnormal finger morphology	403	ARL3	ORPHA:475
HP:0001167	Abnormal finger morphology	10682	EBP	ORPHA:401973
HP:0001167	Abnormal finger morphology	5626	PROP1	ORPHA:226307
HP:0001167	Abnormal finger morphology	89884	LHX4	ORPHA:226307
HP:0001167	Abnormal finger morphology	8022	LHX3	ORPHA:226307
HP:0001167	Abnormal finger morphology	5449	POU1F1	ORPHA:226307
HP:0001167	Abnormal finger morphology	8820	HESX1	ORPHA:226307
HP:0001167	Abnormal finger morphology	5290	PIK3CA	ORPHA:60040
HP:0001167	Abnormal finger morphology	51	ACOX1	ORPHA:2971
HP:0001167	Abnormal finger morphology	7547	ZIC3	OMIM:314390
HP:0001167	Abnormal finger morphology	26154	ABCA12	ORPHA:457
HP:0001167	Abnormal finger morphology	8241	RBM10	ORPHA:2886
HP:0001167	Abnormal finger morphology	51524	TMEM138	ORPHA:2318
HP:0001167	Abnormal finger morphology	23090	ZNF423	ORPHA:2318
HP:0001167	Abnormal finger morphology	10210	TOPORS	ORPHA:2754
HP:0001167	Abnormal finger morphology	317662	FAM149B1	ORPHA:2754
HP:0001167	Abnormal finger morphology	9897	WASHC5	ORPHA:7
HP:0001167	Abnormal finger morphology	5566	PRKACA	ORPHA:289
HP:0001167	Abnormal finger morphology	2313	FLI1	ORPHA:2308
HP:0001167	Abnormal finger morphology	6309	SC5D	ORPHA:46059
HP:0001167	Abnormal finger morphology	6309	SC5D	OMIM:607330
HP:0001167	Abnormal finger morphology	894	CCND2	ORPHA:83473
HP:0001167	Abnormal finger morphology	894	CCND2	OMIM:615938
HP:0001167	Abnormal finger morphology	5296	PIK3R2	ORPHA:83473
HP:0001167	Abnormal finger morphology	10000	AKT3	ORPHA:83473
HP:0001167	Abnormal finger morphology	10000	AKT3	OMIM:615937
HP:0001167	Abnormal finger morphology	26160	IFT172	OMIM:615630
HP:0001167	Abnormal finger morphology	26160	IFT172	ORPHA:474
HP:0001167	Abnormal finger morphology	26160	IFT172	OMIM:619471
HP:0001167	Abnormal finger morphology	26160	IFT172	ORPHA:110
HP:0001167	Abnormal finger morphology	54585	LZTFL1	OMIM:615994
HP:0001167	Abnormal finger morphology	54585	LZTFL1	ORPHA:110
HP:0001167	Abnormal finger morphology	8195	MKKS	OMIM:236700
HP:0001167	Abnormal finger morphology	8195	MKKS	ORPHA:110
HP:0001167	Abnormal finger morphology	8195	MKKS	ORPHA:2473
HP:0001167	Abnormal finger morphology	56623	INPP5E	OMIM:213300
HP:0001167	Abnormal finger morphology	56623	INPP5E	ORPHA:1454
HP:0001167	Abnormal finger morphology	55593	OTUD5	OMIM:301056
HP:0001167	Abnormal finger morphology	83479	DDX59	OMIM:174300
HP:0001167	Abnormal finger morphology	83479	DDX59	ORPHA:2919
HP:0001167	Abnormal finger morphology	1717	DHCR7	ORPHA:818
HP:0001167	Abnormal finger morphology	1717	DHCR7	OMIM:270400
HP:0001167	Abnormal finger morphology	84100	ARL6	OMIM:209900
HP:0001167	Abnormal finger morphology	84100	ARL6	ORPHA:110
HP:0001167	Abnormal finger morphology	79140	CCDC28B	OMIM:209900
HP:0001167	Abnormal finger morphology	582	BBS1	OMIM:209900
HP:0001167	Abnormal finger morphology	582	BBS1	ORPHA:110
HP:0001167	Abnormal finger morphology	51057	WDPCP	OMIM:217085
HP:0001167	Abnormal finger morphology	51057	WDPCP	ORPHA:110
HP:0001167	Abnormal finger morphology	285600	KIAA0825	OMIM:618498
HP:0001167	Abnormal finger morphology	5147	PDE6D	OMIM:615665
HP:0001167	Abnormal finger morphology	26005	C2CD3	OMIM:615948
HP:0001167	Abnormal finger morphology	26005	C2CD3	ORPHA:434179
HP:0001167	Abnormal finger morphology	26040	SETBP1	OMIM:269150
HP:0001167	Abnormal finger morphology	153241	CEP120	ORPHA:474
HP:0001167	Abnormal finger morphology	51626	DYNC2LI1	ORPHA:474
HP:0001167	Abnormal finger morphology	51626	DYNC2LI1	OMIM:617088
HP:0001167	Abnormal finger morphology	79809	TTC21B	ORPHA:474
HP:0001167	Abnormal finger morphology	92482	BBIP1	ORPHA:110
HP:0001167	Abnormal finger morphology	11020	IFT27	ORPHA:110
HP:0001167	Abnormal finger morphology	49855	SCAPER	ORPHA:110
HP:0001167	Abnormal finger morphology	4867	NPHP1	ORPHA:110
HP:0001167	Abnormal finger morphology	27241	BBS9	ORPHA:110
HP:0001167	Abnormal finger morphology	27241	BBS9	OMIM:615986
HP:0001167	Abnormal finger morphology	84984	CEP19	ORPHA:110
HP:0001167	Abnormal finger morphology	22954	TRIM32	ORPHA:110
HP:0001167	Abnormal finger morphology	79738	BBS10	ORPHA:110
HP:0001167	Abnormal finger morphology	123016	TTC8	ORPHA:110
HP:0001167	Abnormal finger morphology	583	BBS2	ORPHA:110
HP:0001167	Abnormal finger morphology	583	BBS2	OMIM:615981
HP:0001167	Abnormal finger morphology	585	BBS4	ORPHA:110
HP:0001167	Abnormal finger morphology	55212	BBS7	ORPHA:110
HP:0001167	Abnormal finger morphology	166379	BBS12	ORPHA:110
HP:0001167	Abnormal finger morphology	166379	BBS12	OMIM:615989
HP:0001167	Abnormal finger morphology	10806	SDCCAG8	ORPHA:110
HP:0001167	Abnormal finger morphology	157657	CFAP418	ORPHA:110
HP:0001167	Abnormal finger morphology	157657	CFAP418	OMIM:617406
HP:0001167	Abnormal finger morphology	129880	BBS5	ORPHA:110
HP:0001167	Abnormal finger morphology	80173	IFT74	ORPHA:110
HP:0001167	Abnormal finger morphology	79005	SCNM1	OMIM:620107
HP:0001167	Abnormal finger morphology	2736	GLI2	OMIM:610829
HP:0001167	Abnormal finger morphology	51360	MBTPS2	OMIM:308205
HP:0001167	Abnormal finger morphology	51360	MBTPS2	ORPHA:85284
HP:0001167	Abnormal finger morphology	80210	ARMC9	OMIM:617622
HP:0001167	Abnormal finger morphology	3930	LBR	OMIM:215140
HP:0001167	Abnormal finger morphology	257	ALX3	OMIM:136760
HP:0001167	Abnormal finger morphology	23288	IQCE	OMIM:617642
HP:0001167	Abnormal finger morphology	137392	CIBAR1	OMIM:618219
HP:0001167	Abnormal finger morphology	7700	ZNF141	OMIM:615226
HP:0001167	Abnormal finger morphology	9851	KIAA0753	OMIM:617127
HP:0001167	Abnormal finger morphology	255758	DYNLT2B	OMIM:617405
HP:0001167	Abnormal finger morphology	64132	XYLT2	OMIM:605822
HP:0001167	Abnormal finger morphology	4088	SMAD3	ORPHA:284984
HP:0001167	Abnormal finger morphology	4088	SMAD3	OMIM:613795
HP:0001167	Abnormal finger morphology	4088	SMAD3	ORPHA:91387
HP:0001167	Abnormal finger morphology	875	CBS	ORPHA:394
HP:0001167	Abnormal finger morphology	875	CBS	OMIM:236200
HP:0001167	Abnormal finger morphology	25970	SH2B1	ORPHA:261222
HP:0001167	Abnormal finger morphology	199857	ALG14	OMIM:619036
HP:0001167	Abnormal finger morphology	8925	HERC1	OMIM:617011
HP:0001167	Abnormal finger morphology	8925	HERC1	ORPHA:457359
HP:0001167	Abnormal finger morphology	1075	CTSC	OMIM:245010
HP:0001167	Abnormal finger morphology	1075	CTSC	ORPHA:678
HP:0001167	Abnormal finger morphology	5351	PLOD1	OMIM:225400
HP:0001167	Abnormal finger morphology	8076	MFAP5	OMIM:616166
HP:0001167	Abnormal finger morphology	8076	MFAP5	ORPHA:91387
HP:0001167	Abnormal finger morphology	5447	POR	ORPHA:95699
HP:0001167	Abnormal finger morphology	5447	POR	OMIM:207410
HP:0001167	Abnormal finger morphology	5447	POR	OMIM:201750
HP:0001167	Abnormal finger morphology	80816	ASXL3	OMIM:615485
HP:0001167	Abnormal finger morphology	80816	ASXL3	ORPHA:352577
HP:0001167	Abnormal finger morphology	72	ACTG2	ORPHA:2604
HP:0001167	Abnormal finger morphology	30008	EFEMP2	OMIM:614437
HP:0001167	Abnormal finger morphology	51114	ZDHHC9	ORPHA:776
HP:0001167	Abnormal finger morphology	51114	ZDHHC9	OMIM:300799
HP:0001167	Abnormal finger morphology	65109	UPF3B	ORPHA:776
HP:0001167	Abnormal finger morphology	79693	YRDC	OMIM:619609
HP:0001167	Abnormal finger morphology	1146	CHRNG	OMIM:265000
HP:0001167	Abnormal finger morphology	2316	FLNA	OMIM:305620
HP:0001167	Abnormal finger morphology	284058	KANSL1	ORPHA:363958
HP:0001167	Abnormal finger morphology	284058	KANSL1	ORPHA:363965
HP:0001167	Abnormal finger morphology	1272	CNTN1	OMIM:612540
HP:0001167	Abnormal finger morphology	29920	PYCR2	ORPHA:481152
HP:0001167	Abnormal finger morphology	29920	PYCR2	OMIM:616420
HP:0001167	Abnormal finger morphology	1312	COMT	ORPHA:567
HP:0001167	Abnormal finger morphology	221037	JMJD1C	ORPHA:567
HP:0001167	Abnormal finger morphology	2812	GP1BB	ORPHA:567
HP:0001167	Abnormal finger morphology	6239	RREB1	ORPHA:567
HP:0001167	Abnormal finger morphology	7290	HIRA	ORPHA:567
HP:0001167	Abnormal finger morphology	9632	SEC24C	ORPHA:567
HP:0001167	Abnormal finger morphology	7353	UFD1	ORPHA:567
HP:0001167	Abnormal finger morphology	421	ARVCF	ORPHA:567
HP:0001167	Abnormal finger morphology	444	ASPH	OMIM:601552
HP:0001167	Abnormal finger morphology	633	BGN	OMIM:300989
HP:0001167	Abnormal finger morphology	79576	NKAP	OMIM:301039
HP:0001167	Abnormal finger morphology	3188	HNRNPH2	OMIM:300986
HP:0001167	Abnormal finger morphology	23152	CIC	OMIM:617600
HP:0001167	Abnormal finger morphology	649	BMP1	OMIM:614856
HP:0001167	Abnormal finger morphology	165	AEBP1	ORPHA:536532
HP:0001167	Abnormal finger morphology	11285	B4GALT7	ORPHA:75496
HP:0001167	Abnormal finger morphology	11285	B4GALT7	OMIM:130070
HP:0001167	Abnormal finger morphology	10526	IPO8	OMIM:619472
HP:0001167	Abnormal finger morphology	10526	IPO8	ORPHA:60030
HP:0001167	Abnormal finger morphology	4534	MTM1	OMIM:310400
HP:0001167	Abnormal finger morphology	1280	COL2A1	OMIM:108300
HP:0001167	Abnormal finger morphology	5184	PEPD	ORPHA:742
HP:0001167	Abnormal finger morphology	715	C1R	OMIM:130080
HP:0001167	Abnormal finger morphology	60676	PAPPA2	OMIM:619489
HP:0001167	Abnormal finger morphology	1742	DLG4	OMIM:618793
HP:0001167	Abnormal finger morphology	6605	SMARCE1	OMIM:616938
HP:0001167	Abnormal finger morphology	11107	PRDM5	ORPHA:90354
HP:0001167	Abnormal finger morphology	84627	ZNF469	ORPHA:90354
HP:0001167	Abnormal finger morphology	5727	PTCH1	ORPHA:377
HP:0001167	Abnormal finger morphology	8643	PTCH2	ORPHA:377
HP:0001167	Abnormal finger morphology	51684	SUFU	ORPHA:377
HP:0001167	Abnormal finger morphology	4677	NARS1	OMIM:619092
HP:0001167	Abnormal finger morphology	6651	SON	ORPHA:500150
HP:0001167	Abnormal finger morphology	2193	FARSA	OMIM:619013
HP:0001167	Abnormal finger morphology	4087	SMAD2	OMIM:619656
HP:0001167	Abnormal finger morphology	4087	SMAD2	ORPHA:91387
HP:0001167	Abnormal finger morphology	7048	TGFBR2	OMIM:610168
HP:0001167	Abnormal finger morphology	7048	TGFBR2	ORPHA:60030
HP:0001167	Abnormal finger morphology	7048	TGFBR2	ORPHA:91387
HP:0001167	Abnormal finger morphology	29893	PSMC3IP	ORPHA:243
HP:0001167	Abnormal finger morphology	171568	POLR3H	ORPHA:243
HP:0001167	Abnormal finger morphology	2516	NR5A1	ORPHA:243
HP:0001167	Abnormal finger morphology	125150	ZSWIM7	ORPHA:243
HP:0001167	Abnormal finger morphology	9210	BMP15	ORPHA:243
HP:0001167	Abnormal finger morphology	23514	SPIDR	ORPHA:243
HP:0001167	Abnormal finger morphology	2492	FSHR	ORPHA:243
HP:0001167	Abnormal finger morphology	56945	MRPS22	ORPHA:243
HP:0001167	Abnormal finger morphology	646	BNC1	ORPHA:243
HP:0001167	Abnormal finger morphology	4883	NPR3	OMIM:619543
HP:0001167	Abnormal finger morphology	7043	TGFB3	OMIM:615582
HP:0001167	Abnormal finger morphology	7043	TGFB3	ORPHA:91387
HP:0001167	Abnormal finger morphology	7046	TGFBR1	ORPHA:60030
HP:0001167	Abnormal finger morphology	7046	TGFBR1	OMIM:609192
HP:0001167	Abnormal finger morphology	7046	TGFBR1	ORPHA:91387
HP:0001167	Abnormal finger morphology	56603	CYP26B1	OMIM:614416
HP:0001167	Abnormal finger morphology	7042	TGFB2	OMIM:614816
HP:0001167	Abnormal finger morphology	7042	TGFB2	ORPHA:91387
HP:0001167	Abnormal finger morphology	4629	MYH11	ORPHA:91387
HP:0001167	Abnormal finger morphology	4015	LOX	ORPHA:91387
HP:0001167	Abnormal finger morphology	4089	SMAD4	ORPHA:91387
HP:0001167	Abnormal finger morphology	59	ACTA2	ORPHA:91387
HP:0001167	Abnormal finger morphology	5592	PRKG1	ORPHA:91387
HP:0001167	Abnormal finger morphology	2301	FOXE3	ORPHA:91387
HP:0001167	Abnormal finger morphology	4144	MAT2A	ORPHA:91387
HP:0001167	Abnormal finger morphology	23493	HEY2	ORPHA:91387
HP:0001167	Abnormal finger morphology	4638	MYLK	ORPHA:91387
HP:0001167	Abnormal finger morphology	1593	CYP27A1	ORPHA:909
HP:0001167	Abnormal finger morphology	23400	ATP13A2	ORPHA:306674
HP:0001167	Abnormal finger morphology	64374	SIL1	ORPHA:559
HP:0001167	Abnormal finger morphology	51763	INPP5K	ORPHA:559
HP:0001167	Abnormal finger morphology	5077	PAX3	ORPHA:896
HP:0001167	Abnormal finger morphology	134218	DNAJC21	ORPHA:811
HP:0001167	Abnormal finger morphology	79631	EFL1	ORPHA:811
HP:0001167	Abnormal finger morphology	51119	SBDS	ORPHA:811
HP:0001167	Abnormal finger morphology	6729	SRP54	ORPHA:811
HP:0001167	Abnormal finger morphology	6926	TBX3	ORPHA:3138
HP:0001167	Abnormal finger morphology	2189	FANCG	OMIM:614082
HP:0001167	Abnormal finger morphology	2189	FANCG	ORPHA:84
HP:0001167	Abnormal finger morphology	80207	OPA3	ORPHA:67036
HP:0001167	Abnormal finger morphology	9158	FIBP	ORPHA:500095
HP:0001167	Abnormal finger morphology	9968	MED12	ORPHA:93932
HP:0001167	Abnormal finger morphology	8200	GDF5	ORPHA:2639
HP:0001167	Abnormal finger morphology	658	BMPR1B	ORPHA:2639
HP:0001167	Abnormal finger morphology	672	BRCA1	ORPHA:84
HP:0001167	Abnormal finger morphology	10459	MAD2L2	ORPHA:84
HP:0001167	Abnormal finger morphology	7516	XRCC2	ORPHA:84
HP:0001167	Abnormal finger morphology	29089	UBE2T	ORPHA:84
HP:0001167	Abnormal finger morphology	675	BRCA2	ORPHA:84
HP:0001167	Abnormal finger morphology	55120	FANCL	ORPHA:84
HP:0001167	Abnormal finger morphology	2175	FANCA	ORPHA:84
HP:0001167	Abnormal finger morphology	2187	FANCB	ORPHA:84
HP:0001167	Abnormal finger morphology	2176	FANCC	ORPHA:84
HP:0001167	Abnormal finger morphology	2178	FANCE	ORPHA:84
HP:0001167	Abnormal finger morphology	2188	FANCF	ORPHA:84
HP:0001167	Abnormal finger morphology	5888	RAD51	ORPHA:84
HP:0001167	Abnormal finger morphology	5889	RAD51C	ORPHA:84
HP:0001167	Abnormal finger morphology	55159	RFWD3	ORPHA:84
HP:0001167	Abnormal finger morphology	83990	BRIP1	ORPHA:84
HP:0001167	Abnormal finger morphology	57697	FANCM	ORPHA:84
HP:0001167	Abnormal finger morphology	79728	PALB2	ORPHA:84
HP:0001167	Abnormal finger morphology	84464	SLX4	ORPHA:84
HP:0001167	Abnormal finger morphology	2072	ERCC4	ORPHA:84
HP:0001167	Abnormal finger morphology	55215	FANCI	ORPHA:84
HP:0001167	Abnormal finger morphology	64093	SMOC1	ORPHA:1106
HP:0001167	Abnormal finger morphology	2261	FGFR3	OMIM:620192
HP:0001167	Abnormal finger morphology	2261	FGFR3	ORPHA:2363
HP:0001167	Abnormal finger morphology	23111	SPART	ORPHA:101000
HP:0001167	Abnormal finger morphology	25942	SIN3A	ORPHA:94065
HP:0001167	Abnormal finger morphology	1193	CLIC2	ORPHA:324410
HP:0001167	Abnormal finger morphology	860	RUNX2	ORPHA:1452
HP:0001167	Abnormal finger morphology	2255	FGF10	ORPHA:2363
HP:0001167	Abnormal finger morphology	6469	SHH	ORPHA:93321
HP:0001167	Abnormal finger morphology	57167	SALL4	ORPHA:233
HP:0001167	Abnormal finger morphology	57167	SALL4	ORPHA:959
HP:0001167	Abnormal finger morphology	57167	SALL4	ORPHA:2307
HP:0001167	Abnormal finger morphology	9935	MAFB	ORPHA:233
HP:0001167	Abnormal finger morphology	1123	CHN1	ORPHA:233
HP:0001167	Abnormal finger morphology	2137	EXTL3	ORPHA:508533
HP:0001167	Abnormal finger morphology	22827	PUF60	ORPHA:508498
HP:0001167	Abnormal finger morphology	65250	CPLANE1	OMIM:277170
HP:0001167	Abnormal finger morphology	6608	SMO	OMIM:601707
HP:0001167	Abnormal finger morphology	6608	SMO	ORPHA:1553
HP:0001167	Abnormal finger morphology	4750	NEK1	OMIM:263520
HP:0001167	Abnormal finger morphology	2737	GLI3	OMIM:175700
HP:0001167	Abnormal finger morphology	2737	GLI3	ORPHA:380
HP:0001167	Abnormal finger morphology	2737	GLI3	OMIM:174200
HP:0001167	Abnormal finger morphology	64327	LMBR1	ORPHA:2378
HP:0001167	Abnormal finger morphology	64327	LMBR1	OMIM:174500
HP:0001167	Abnormal finger morphology	55027	HEATR3	OMIM:620072
HP:0001167	Abnormal finger morphology	6299	SALL1	OMIM:107480
HP:0001167	Abnormal finger morphology	6299	SALL1	ORPHA:857
HP:0001167	Abnormal finger morphology	55112	DYNC2I1	ORPHA:93271
HP:0001167	Abnormal finger morphology	57560	IFT80	ORPHA:93271
HP:0001167	Abnormal finger morphology	57539	WDR35	ORPHA:93271
HP:0001167	Abnormal finger morphology	79659	DYNC2H1	ORPHA:93271
HP:0001167	Abnormal finger morphology	89891	DYNC2I2	ORPHA:93271
HP:0001167	Abnormal finger morphology	374879	ZNF699	OMIM:619488
HP:0001167	Abnormal finger morphology	374654	KIF7	OMIM:200990
HP:0001167	Abnormal finger morphology	8318	CDC45	OMIM:617063
HP:0001167	Abnormal finger morphology	51339	DACT1	ORPHA:857
HP:0001167	Abnormal finger morphology	2177	FANCD2	OMIM:227646
HP:0001167	Abnormal finger morphology	727857	BHLHA9	ORPHA:3329
HP:0001167	Abnormal finger morphology	23133	PHF8	ORPHA:85287
HP:0001167	Abnormal finger morphology	8481	OFD1	ORPHA:2750
HP:0001167	Abnormal finger morphology	219844	HYLS1	OMIM:236680
HP:0001167	Abnormal finger morphology	26123	TCTN3	ORPHA:2753
HP:0001167	Abnormal finger morphology	26123	TCTN3	ORPHA:564
HP:0001167	Abnormal finger morphology	2697	GJA1	ORPHA:2710
HP:0001167	Abnormal finger morphology	3239	HOXD13	ORPHA:887
HP:0001167	Abnormal finger morphology	7020	TFAP2A	OMIM:113620
HP:0001167	Abnormal finger morphology	7020	TFAP2A	ORPHA:1297
HP:0001167	Abnormal finger morphology	84314	TMEM107	ORPHA:564
HP:0001167	Abnormal finger morphology	79867	TCTN2	ORPHA:564
HP:0001167	Abnormal finger morphology	80776	B9D2	ORPHA:564
HP:0001167	Abnormal finger morphology	79600	TCTN1	ORPHA:564
HP:0001167	Abnormal finger morphology	57096	RPGRIP1	ORPHA:564
HP:0001167	Abnormal finger morphology	79848	CSPP1	ORPHA:564
HP:0001167	Abnormal finger morphology	80184	CEP290	ORPHA:564
HP:0001167	Abnormal finger morphology	51259	TMEM216	ORPHA:564
HP:0001167	Abnormal finger morphology	57545	CC2D2A	ORPHA:564
HP:0001167	Abnormal finger morphology	79583	TMEM231	ORPHA:564
HP:0001167	Abnormal finger morphology	91147	TMEM67	ORPHA:564
HP:0001167	Abnormal finger morphology	79770	TXNDC15	ORPHA:564
HP:0001167	Abnormal finger morphology	27077	B9D1	ORPHA:564
HP:0001167	Abnormal finger morphology	23322	RPGRIP1L	ORPHA:564
HP:0001167	Abnormal finger morphology	54903	MKS1	ORPHA:564
HP:0001167	Abnormal finger morphology	65062	TMEM237	ORPHA:564
HP:0001167	Abnormal finger morphology	10815	CPLX1	ORPHA:280
HP:0001167	Abnormal finger morphology	10815	CPLX1	OMIM:194190
HP:0001167	Abnormal finger morphology	54872	PIGG	ORPHA:280
HP:0001167	Abnormal finger morphology	7469	NELFA	ORPHA:280
HP:0001167	Abnormal finger morphology	1487	CTBP1	ORPHA:280
HP:0001167	Abnormal finger morphology	1487	CTBP1	OMIM:194190
HP:0001167	Abnormal finger morphology	3954	LETM1	ORPHA:280
HP:0001167	Abnormal finger morphology	3954	LETM1	OMIM:194190
HP:0001167	Abnormal finger morphology	7468	NSD2	ORPHA:280
HP:0001167	Abnormal finger morphology	7468	NSD2	OMIM:194190
HP:0001167	Abnormal finger morphology	2735	GLI1	OMIM:174400
HP:0001167	Abnormal finger morphology	53834	FGFRL1	OMIM:194190
HP:0001167	Abnormal finger morphology	9343	EFTUD2	OMIM:610536
HP:0001167	Abnormal finger morphology	9343	EFTUD2	ORPHA:79113
HP:0001167	Abnormal finger morphology	2263	FGFR2	OMIM:101200
HP:0001167	Abnormal finger morphology	157570	ESCO2	OMIM:268300
HP:0001167	Abnormal finger morphology	64840	PORCN	OMIM:305600
HP:0001167	Abnormal finger morphology	7480	WNT10B	OMIM:225300
HP:0001167	Abnormal finger morphology	7476	WNT7A	OMIM:228930
HP:0001167	Abnormal finger morphology	7476	WNT7A	ORPHA:2879
HP:0001167	Abnormal finger morphology	7476	WNT7A	OMIM:276820
HP:0001167	Abnormal finger morphology	9401	RECQL4	ORPHA:1225
HP:0001167	Abnormal finger morphology	25836	NIPBL	OMIM:122470
HP:0001167	Abnormal finger morphology	6154	RPL26	OMIM:614900
HP:0001167	Abnormal finger morphology	1749	DLX5	OMIM:183600
HP:0001167	Abnormal finger morphology	10262	SF3B4	ORPHA:1788
HP:0001167	Abnormal finger morphology	1802	DPH2	OMIM:620062
HP:0001167	Abnormal finger morphology	91949	COG7	OMIM:608779
HP:0001167	Abnormal finger morphology	91949	COG7	ORPHA:79333
HP:0001167	Abnormal finger morphology	27238	GPKOW	ORPHA:2570
HP:0001167	Abnormal finger morphology	23141	ANKLE2	OMIM:616681
HP:0001167	Abnormal finger morphology	29895	MYL11	OMIM:619110
HP:0001167	Abnormal finger morphology	5393	EXOSC9	OMIM:618065
HP:0001167	Abnormal finger morphology	1861	TOR1A	OMIM:618947
HP:0001167	Abnormal finger morphology	55627	SMPD4	OMIM:618622
HP:0001167	Abnormal finger morphology	6804	STX1A	ORPHA:904
HP:0001167	Abnormal finger morphology	7461	CLIP2	ORPHA:904
HP:0001167	Abnormal finger morphology	84277	DNAJC30	ORPHA:904
HP:0001167	Abnormal finger morphology	8468	FKBP6	ORPHA:904
HP:0001167	Abnormal finger morphology	5982	RFC2	ORPHA:904
HP:0001167	Abnormal finger morphology	2969	GTF2I	ORPHA:904
HP:0001167	Abnormal finger morphology	3984	LIMK1	ORPHA:904
HP:0001167	Abnormal finger morphology	9569	GTF2IRD1	ORPHA:904
HP:0001167	Abnormal finger morphology	155382	VPS37D	ORPHA:904
HP:0001167	Abnormal finger morphology	155368	METTL27	ORPHA:904
HP:0001167	Abnormal finger morphology	114049	BUD23	ORPHA:904
HP:0001167	Abnormal finger morphology	7458	EIF4H	ORPHA:904
HP:0001167	Abnormal finger morphology	84163	GTF2IRD2	ORPHA:904
HP:0001167	Abnormal finger morphology	9275	BCL7B	ORPHA:904
HP:0001167	Abnormal finger morphology	26608	TBL2	ORPHA:904
HP:0001167	Abnormal finger morphology	653361	NCF1	ORPHA:904
HP:0001167	Abnormal finger morphology	135886	TMEM270	ORPHA:904
HP:0001167	Abnormal finger morphology	51085	MLXIPL	ORPHA:904
HP:0001167	Abnormal finger morphology	9031	BAZ1B	ORPHA:904
HP:0001167	Abnormal finger morphology	2006	ELN	ORPHA:904
HP:0001167	Abnormal finger morphology	2006	ELN	ORPHA:90348
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	OMIM:616603
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	OMIM:219150
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	ORPHA:90348
HP:0001167	Abnormal finger morphology	347734	SLC35B2	OMIM:620269
HP:0001167	Abnormal finger morphology	23345	SYNE1	ORPHA:319332
HP:0001167	Abnormal finger morphology	23345	SYNE1	OMIM:618484
HP:0001167	Abnormal finger morphology	84992	PIGY	OMIM:616809
HP:0001167	Abnormal finger morphology	1291	COL6A1	ORPHA:75840
HP:0001167	Abnormal finger morphology	1292	COL6A2	ORPHA:75840
HP:0001167	Abnormal finger morphology	1293	COL6A3	ORPHA:75840
HP:0001167	Abnormal finger morphology	9839	ZEB2	ORPHA:261537
HP:0001167	Abnormal finger morphology	9839	ZEB2	ORPHA:261552
HP:0001167	Abnormal finger morphology	215	ABCD1	ORPHA:388
HP:0001167	Abnormal finger morphology	5979	RET	ORPHA:388
HP:0001167	Abnormal finger morphology	2668	GDNF	ORPHA:388
HP:0001167	Abnormal finger morphology	6720	SREBF1	ORPHA:388
HP:0001167	Abnormal finger morphology	1908	EDN3	ORPHA:388
HP:0001167	Abnormal finger morphology	223117	SEMA3D	ORPHA:388
HP:0001167	Abnormal finger morphology	538	ATP7A	ORPHA:388
HP:0001167	Abnormal finger morphology	1910	EDNRB	ORPHA:388
HP:0001167	Abnormal finger morphology	10512	SEMA3C	ORPHA:388
HP:0001167	Abnormal finger morphology	2064	ERBB2	ORPHA:388
HP:0001167	Abnormal finger morphology	2065	ERBB3	ORPHA:388
HP:0001167	Abnormal finger morphology	4902	NRTN	ORPHA:388
HP:0001167	Abnormal finger morphology	10479	SLC9A6	OMIM:300243
HP:0001167	Abnormal finger morphology	10479	SLC9A6	ORPHA:85278
HP:0001167	Abnormal finger morphology	91754	NEK9	OMIM:617022
HP:0001167	Abnormal finger morphology	5649	RELN	ORPHA:89844
HP:0001167	Abnormal finger morphology	54820	NDE1	ORPHA:89844
HP:0001167	Abnormal finger morphology	6472	SHMT2	OMIM:619121
HP:0001167	Abnormal finger morphology	58	ACTA1	ORPHA:171430
HP:0001167	Abnormal finger morphology	4703	NEB	ORPHA:171430
HP:0001167	Abnormal finger morphology	4703	NEB	OMIM:619334
HP:0001167	Abnormal finger morphology	131377	KLHL40	ORPHA:171430
HP:0001167	Abnormal finger morphology	10324	KLHL41	ORPHA:171430
HP:0001167	Abnormal finger morphology	56203	LMOD3	ORPHA:171430
HP:0001167	Abnormal finger morphology	26227	PHGDH	OMIM:601815
HP:0001167	Abnormal finger morphology	26227	PHGDH	ORPHA:79351
HP:0001167	Abnormal finger morphology	84162	BLTP1	OMIM:617822
HP:0001167	Abnormal finger morphology	202018	TAPT1	OMIM:616897
HP:0001167	Abnormal finger morphology	2201	FBN2	OMIM:121050
HP:0001167	Abnormal finger morphology	91869	RFT1	OMIM:612015
HP:0001167	Abnormal finger morphology	2033	EP300	ORPHA:353284
HP:0001167	Abnormal finger morphology	4621	MYH3	OMIM:618436
HP:0001167	Abnormal finger morphology	4621	MYH3	OMIM:193700
HP:0001167	Abnormal finger morphology	4621	MYH3	ORPHA:1147
HP:0001167	Abnormal finger morphology	4621	MYH3	ORPHA:1146
HP:0001167	Abnormal finger morphology	3897	L1CAM	ORPHA:306617
HP:0001167	Abnormal finger morphology	3897	L1CAM	OMIM:303350
HP:0001167	Abnormal finger morphology	3897	L1CAM	OMIM:307000
HP:0001167	Abnormal finger morphology	3897	L1CAM	ORPHA:2182
HP:0001167	Abnormal finger morphology	388015	RTL1	ORPHA:96334
HP:0001167	Abnormal finger morphology	8788	DLK1	ORPHA:96334
HP:0001167	Abnormal finger morphology	55384	MEG3	ORPHA:96334
HP:0001167	Abnormal finger morphology	2067	ERCC1	OMIM:610758
HP:0001167	Abnormal finger morphology	9179	AP4M1	OMIM:612936
HP:0001167	Abnormal finger morphology	7169	TPM2	OMIM:108120
HP:0001167	Abnormal finger morphology	7169	TPM2	ORPHA:1147
HP:0001167	Abnormal finger morphology	7169	TPM2	ORPHA:1146
HP:0001167	Abnormal finger morphology	126792	B3GALT6	ORPHA:536467
HP:0001167	Abnormal finger morphology	50515	CHST11	OMIM:618167
HP:0001167	Abnormal finger morphology	79868	ALG13	ORPHA:324422
HP:0001167	Abnormal finger morphology	259232	NALCN	OMIM:616266
HP:0001167	Abnormal finger morphology	259232	NALCN	ORPHA:1147
HP:0001167	Abnormal finger morphology	259232	NALCN	ORPHA:1146
HP:0001167	Abnormal finger morphology	23483	TGDS	OMIM:616145
HP:0001167	Abnormal finger morphology	729920	CRPPA	OMIM:614643
HP:0001167	Abnormal finger morphology	7136	TNNI2	ORPHA:1147
HP:0001167	Abnormal finger morphology	7136	TNNI2	ORPHA:1146
HP:0001167	Abnormal finger morphology	10273	STUB1	ORPHA:412057
HP:0001167	Abnormal finger morphology	1387	CREBBP	ORPHA:353277
HP:0001167	Abnormal finger morphology	4604	MYBPC1	ORPHA:1146
HP:0001167	Abnormal finger morphology	10516	FBLN5	ORPHA:90348
HP:0001167	Abnormal finger morphology	81857	MED25	ORPHA:464738
HP:0001167	Abnormal finger morphology	57211	ADGRG6	OMIM:616503
HP:0001167	Abnormal finger morphology	9939	RBM8A	ORPHA:3320
HP:0001167	Abnormal finger morphology	9939	RBM8A	OMIM:274000
HP:0001167	Abnormal finger morphology	23299	BICD2	OMIM:618291
HP:0001167	Abnormal finger morphology	10195	ALG3	OMIM:601110
HP:0001167	Abnormal finger morphology	10943	MSL3	OMIM:301032
HP:0001167	Abnormal finger morphology	3977	LIFR	OMIM:601559
HP:0001167	Abnormal finger morphology	9427	ECEL1	OMIM:615065
HP:0001167	Abnormal finger morphology	6999	TDO2	OMIM:600627
HP:0001167	Abnormal finger morphology	84896	ATAD1	OMIM:618011
HP:0001167	Abnormal finger morphology	2036	EPB41L1	OMIM:614257
HP:0001167	Abnormal finger morphology	51002	TPRKB	ORPHA:2065
HP:0001167	Abnormal finger morphology	84942	WDR73	ORPHA:2065
HP:0001167	Abnormal finger morphology	55644	OSGEP	ORPHA:2065
HP:0001167	Abnormal finger morphology	57122	NUP107	ORPHA:2065
HP:0001167	Abnormal finger morphology	10785	WDR4	ORPHA:2065
HP:0001167	Abnormal finger morphology	55746	NUP133	ORPHA:2065
HP:0001167	Abnormal finger morphology	8270	LAGE3	ORPHA:2065
HP:0001167	Abnormal finger morphology	8367	H4C5	OMIM:619950
HP:0001167	Abnormal finger morphology	9853	RUSC2	OMIM:617773
HP:0001167	Abnormal finger morphology	23019	CNOT1	OMIM:619033
HP:0001167	Abnormal finger morphology	26128	KIFBP	OMIM:609460
HP:0001167	Abnormal finger morphology	2972	BRF1	OMIM:616202
HP:0001167	Abnormal finger morphology	2972	BRF1	ORPHA:444072
HP:0001167	Abnormal finger morphology	56916	SMARCAD1	OMIM:129200
HP:0001167	Abnormal finger morphology	56916	SMARCAD1	OMIM:181600
HP:0001167	Abnormal finger morphology	9578	CDC42BPB	OMIM:619841
HP:0001167	Abnormal finger morphology	3020	H3-3A	OMIM:619720
HP:0001167	Abnormal finger morphology	170302	ARX	OMIM:300004
HP:0001167	Abnormal finger morphology	3021	H3-3B	OMIM:619721
HP:0001167	Abnormal finger morphology	10300	KATNB1	OMIM:616212
HP:0001167	Abnormal finger morphology	2624	GATA2	OMIM:614038
HP:0001167	Abnormal finger morphology	55904	KMT2E	OMIM:618512
HP:0001167	Abnormal finger morphology	10978	CLP1	OMIM:615803
HP:0001167	Abnormal finger morphology	55650	PIGV	OMIM:239300
HP:0001167	Abnormal finger morphology	6335	SCN9A	ORPHA:970
HP:0001167	Abnormal finger morphology	65125	WNK1	ORPHA:970
HP:0001167	Abnormal finger morphology	54463	RETREG1	ORPHA:970
HP:0001167	Abnormal finger morphology	547	KIF1A	ORPHA:970
HP:0001167	Abnormal finger morphology	547	KIF1A	ORPHA:2836
HP:0001167	Abnormal finger morphology	6595	SMARCA2	OMIM:619293
HP:0001167	Abnormal finger morphology	80204	FBXO11	OMIM:618089
HP:0001167	Abnormal finger morphology	113189	CHST14	ORPHA:2953
HP:0001167	Abnormal finger morphology	29940	DSE	ORPHA:2953
HP:0001167	Abnormal finger morphology	1889	ECE1	OMIM:613870
HP:0001167	Abnormal finger morphology	9326	ZNHIT3	ORPHA:2836
HP:0001167	Abnormal finger morphology	9326	ZNHIT3	OMIM:260565
HP:0001167	Abnormal finger morphology	2770	GNAI1	OMIM:619854
HP:0001167	Abnormal finger morphology	83550	GPR101	ORPHA:963
HP:0001167	Abnormal finger morphology	9049	AIP	ORPHA:963
HP:0001167	Abnormal finger morphology	157680	VPS13B	OMIM:216550
HP:0001167	Abnormal finger morphology	157680	VPS13B	ORPHA:193
HP:0001167	Abnormal finger morphology	2626	GATA4	ORPHA:251071
HP:0001167	Abnormal finger morphology	84823	LMNB2	OMIM:619180
HP:0001167	Abnormal finger morphology	9896	FIG4	ORPHA:3472
HP:0001167	Abnormal finger morphology	9896	FIG4	OMIM:216340
HP:0001167	Abnormal finger morphology	55697	VAC14	ORPHA:3472
HP:0001167	Abnormal finger morphology	1656	DDX6	OMIM:618653
HP:0001167	Abnormal finger morphology	4297	KMT2A	ORPHA:319182
HP:0001167	Abnormal finger morphology	4297	KMT2A	OMIM:605130
HP:0001167	Abnormal finger morphology	57178	ZMIZ1	OMIM:618659
HP:0001167	Abnormal finger morphology	6792	CDKL5	OMIM:300672
HP:0001167	Abnormal finger morphology	7025	NR2F1	ORPHA:401777
HP:0001167	Abnormal finger morphology	7025	NR2F1	OMIM:615722
HP:0001167	Abnormal finger morphology	253738	EBF3	OMIM:617330
HP:0001167	Abnormal finger morphology	55699	IARS2	OMIM:616007
HP:0001167	Abnormal finger morphology	8239	USP9X	ORPHA:480880
HP:0001167	Abnormal finger morphology	8239	USP9X	OMIM:300968
HP:0001167	Abnormal finger morphology	285175	UNC80	OMIM:616801
HP:0001167	Abnormal finger morphology	79753	SNIP1	OMIM:614501
HP:0001167	Abnormal finger morphology	6134	RPL10	ORPHA:459070
HP:0001167	Abnormal finger morphology	6134	RPL10	OMIM:300998
HP:0001167	Abnormal finger morphology	6134	RPL10	ORPHA:435938
HP:0001167	Abnormal finger morphology	1859	DYRK1A	ORPHA:464311
HP:0001167	Abnormal finger morphology	1859	DYRK1A	ORPHA:268261
HP:0001167	Abnormal finger morphology	1303	COL12A1	ORPHA:536516
HP:0001167	Abnormal finger morphology	51611	DPH5	OMIM:620070
HP:0001167	Abnormal finger morphology	79813	EHMT1	ORPHA:261652
HP:0001167	Abnormal finger morphology	58508	KMT2C	ORPHA:261652
HP:0001167	Abnormal finger morphology	4094	MAF	ORPHA:1272
HP:0001167	Abnormal finger morphology	4094	MAF	OMIM:601088
HP:0001167	Abnormal finger morphology	7750	ZMYM2	OMIM:619522
HP:0001167	Abnormal finger morphology	5594	MAPK1	OMIM:619087
HP:0001167	Abnormal finger morphology	4849	CNOT3	OMIM:618672
HP:0001167	Abnormal finger morphology	6942	TCF20	OMIM:618430
HP:0001167	Abnormal finger morphology	81887	LAS1L	ORPHA:3459
HP:0001167	Abnormal finger morphology	81887	LAS1L	OMIM:309585
HP:0001167	Abnormal finger morphology	55869	HDAC8	ORPHA:3459
HP:0001167	Abnormal finger morphology	7140	TNNT3	OMIM:618435
HP:0001167	Abnormal finger morphology	6925	TCF4	OMIM:610954
HP:0001167	Abnormal finger morphology	6925	TCF4	ORPHA:2896
HP:0001167	Abnormal finger morphology	7030	TFE3	OMIM:301066
HP:0001167	Abnormal finger morphology	546	ATRX	OMIM:309580
HP:0001167	Abnormal finger morphology	546	ATRX	OMIM:301040
HP:0001167	Abnormal finger morphology	374969	SVBP	OMIM:618569
HP:0001167	Abnormal finger morphology	84295	PHF6	ORPHA:127
HP:0001167	Abnormal finger morphology	84295	PHF6	OMIM:301900
HP:0001167	Abnormal finger morphology	91252	SLC39A13	ORPHA:157965
HP:0001167	Abnormal finger morphology	91252	SLC39A13	OMIM:612350
HP:0001167	Abnormal finger morphology	171023	ASXL1	OMIM:605039
HP:0001167	Abnormal finger morphology	55023	PHIP	ORPHA:589905
HP:0001167	Abnormal finger morphology	55023	PHIP	OMIM:617991
HP:0001167	Abnormal finger morphology	22907	DHX30	OMIM:617804
HP:0001167	Abnormal finger morphology	9230	RAB11B	OMIM:617807
HP:0001167	Abnormal finger morphology	5277	PIGA	OMIM:301072
HP:0001167	Abnormal finger morphology	389827	MYMK	OMIM:254940
HP:0001167	Abnormal finger morphology	10075	HUWE1	OMIM:309590
HP:0001167	Abnormal finger morphology	9488	PIGB	OMIM:618580
HP:0001167	Abnormal finger morphology	8243	SMC1A	OMIM:301044
HP:0001167	Abnormal finger morphology	23013	SPEN	OMIM:619312
HP:0001167	Abnormal finger morphology	56896	DPYSL5	OMIM:619435
HP:0001167	Abnormal finger morphology	9698	PUM1	OMIM:617931
HP:0001167	Abnormal finger morphology	23394	ADNP	OMIM:615873
HP:0001167	Abnormal finger morphology	23028	KDM1A	OMIM:616728
HP:0001167	Abnormal finger morphology	23028	KDM1A	ORPHA:477993
HP:0001167	Abnormal finger morphology	5575	PRKAR1B	OMIM:619680
HP:0001167	Abnormal finger morphology	91179	SCARF2	OMIM:600920
HP:0001167	Abnormal finger morphology	6492	SIM1	ORPHA:171829
HP:0001167	Abnormal finger morphology	2782	GNB1	OMIM:616973
HP:0001167	Abnormal finger morphology	4953	ODC1	ORPHA:544488
HP:0001167	Abnormal finger morphology	998	CDC42	OMIM:616737
HP:0001167	Abnormal finger morphology	998	CDC42	ORPHA:487796
HP:0001167	Abnormal finger morphology	3097	HIVEP2	OMIM:616977
HP:0001167	Abnormal finger morphology	10982	MAPRE2	OMIM:616734
HP:0001167	Abnormal finger morphology	4131	MAP1B	OMIM:618918
HP:0001167	Abnormal finger morphology	56915	EXOSC5	OMIM:619576
HP:0001167	Abnormal finger morphology	10588	MTHFS	OMIM:618367
HP:0001167	Abnormal finger morphology	63035	BCORL1	OMIM:301029
HP:0001167	Abnormal finger morphology	10265	IRX5	OMIM:611174
HP:0001167	Abnormal finger morphology	1108	CHD4	OMIM:617159
HP:0001167	Abnormal finger morphology	91137	SLC25A46	OMIM:616505
HP:0001167	Abnormal finger morphology	8604	SLC25A12	OMIM:612949
HP:0001167	Abnormal finger morphology	7703	PCGF2	OMIM:618371
HP:0001167	Abnormal finger morphology	83696	TRAPPC9	ORPHA:352530
HP:0001167	Abnormal finger morphology	92949	ADAMTSL1	ORPHA:521445
HP:0001167	Abnormal finger morphology	54551	MAGEL2	OMIM:615547
HP:0001167	Abnormal finger morphology	2707	GJB3	ORPHA:317
HP:0001167	Abnormal finger morphology	2531	KDSR	ORPHA:317
HP:0001167	Abnormal finger morphology	127534	GJB4	ORPHA:317
HP:0001167	Abnormal finger morphology	9244	CRLF1	OMIM:272430
HP:0001167	Abnormal finger morphology	8812	CCNK	OMIM:618147
HP:0001167	Abnormal finger morphology	112858	TP53RK	OMIM:617730
HP:0001167	Abnormal finger morphology	7204	TRIO	OMIM:618825
HP:0001167	Abnormal finger morphology	7204	TRIO	OMIM:617061
HP:0001167	Abnormal finger morphology	7204	TRIO	ORPHA:476126
HP:0001167	Abnormal finger morphology	9894	TELO2	ORPHA:488642
HP:0001167	Abnormal finger morphology	80036	TRPM3	OMIM:620224
HP:0001167	Abnormal finger morphology	8936	WASF1	OMIM:618707
HP:0001167	Abnormal finger morphology	8405	SPOP	OMIM:618829
HP:0001167	Abnormal finger morphology	23630	KCNE5	ORPHA:86818
HP:0001167	Abnormal finger morphology	2182	ACSL4	ORPHA:86818
HP:0001167	Abnormal finger morphology	9949	AMMECR1	ORPHA:86818
HP:0001167	Abnormal finger morphology	11198	SUPT16H	OMIM:619480
HP:0001167	Abnormal finger morphology	23556	PIGN	ORPHA:280633
HP:0001167	Abnormal finger morphology	23067	SETD1B	OMIM:619000
HP:0001167	Abnormal finger morphology	23233	EXOC6B	OMIM:618395
HP:0001167	Abnormal finger morphology	5075	PAX1	OMIM:615560
HP:0001167	Abnormal finger morphology	55704	CCDC88A	OMIM:617507
HP:0001167	Abnormal finger morphology	1376	CPT2	OMIM:608836
HP:0001167	Abnormal finger morphology	8242	KDM5C	ORPHA:85279
HP:0001167	Abnormal finger morphology	1315	COPB1	OMIM:619255
HP:0001167	Abnormal finger morphology	51317	PHF21A	OMIM:618725
HP:0001167	Abnormal finger morphology	1968	EIF2S3	ORPHA:85282
HP:0001167	Abnormal finger morphology	5557	PRIM1	OMIM:620005
HP:0001167	Abnormal finger morphology	1795	DOCK3	OMIM:618292
HP:0001167	Abnormal finger morphology	3636	INPPL1	ORPHA:2746
HP:0001167	Abnormal finger morphology	4654	MYOD1	OMIM:618975
HP:0001167	Abnormal finger morphology	11342	RNF13	ORPHA:544503
HP:0001167	Abnormal finger morphology	9990	SLC12A6	OMIM:218000
HP:0001167	Abnormal finger morphology	6197	RPS6KA3	OMIM:303600
HP:0001167	Abnormal finger morphology	9791	PTDSS1	OMIM:151050
HP:0001167	Abnormal finger morphology	2245	FGD1	OMIM:305400
HP:0001167	Abnormal finger morphology	9759	HDAC4	OMIM:619797
HP:0001167	Abnormal finger morphology	3756	KCNH1	OMIM:135500
HP:0001167	Abnormal finger morphology	57479	PRR12	OMIM:619539
HP:0001167	Abnormal finger morphology	6611	SMS	OMIM:309583
HP:0001167	Abnormal finger morphology	673	BRAF	OMIM:115150
HP:0001167	Abnormal finger morphology	91461	PKDCC	OMIM:618821
HP:0001167	Abnormal finger morphology	92344	GORAB	OMIM:231070
HP:0001167	Abnormal finger morphology	54499	TMCO1	OMIM:213980
HP:0001167	Abnormal finger morphology	387733	IFITM5	OMIM:610967
HP:0001167	Abnormal finger morphology	51633	OTUD6B	ORPHA:505237
HP:0001167	Abnormal finger morphology	23114	NFASC	OMIM:618356
HP:0001167	Abnormal finger morphology	1289	COL5A1	OMIM:130000
HP:0001167	Abnormal finger morphology	1278	COL1A2	OMIM:617821
HP:0001167	Abnormal finger morphology	427	ASAH1	OMIM:228000
HP:0001167	Abnormal finger morphology	9373	PLAA	ORPHA:521426
HP:0001167	Abnormal finger morphology	2783	GNB2	OMIM:619503
HP:0001167	Abnormal finger morphology	3265	HRAS	OMIM:218040
HP:0001167	Abnormal finger morphology	2200	FBN1	OMIM:616914
HP:0001167	Abnormal finger morphology	121340	SP7	OMIM:613849
HP:0001167	Abnormal finger morphology	4488	MSX2	OMIM:604757
HP:0001167	Abnormal finger morphology	3782	KCNN3	OMIM:618658
HP:0001167	Abnormal finger morphology	3909	LAMA3	ORPHA:79404
HP:0001167	Abnormal finger morphology	3918	LAMC2	ORPHA:79404
HP:0001167	Abnormal finger morphology	5063	PAK3	OMIM:300558
HP:0001167	Abnormal finger morphology	6228	RPS23	OMIM:617412
HP:0001167	Abnormal finger morphology	79718	TBL1XR1	OMIM:602342
HP:0001167	Abnormal finger morphology	79718	TBL1XR1	ORPHA:487825
HP:0001167	Abnormal finger morphology	27086	FOXP1	ORPHA:391372
HP:0001167	Abnormal finger morphology	23065	EMC1	ORPHA:480898
HP:0001167	Abnormal finger morphology	23065	EMC1	OMIM:616875
HP:0001167	Abnormal finger morphology	51322	WAC	ORPHA:466950
HP:0001167	Abnormal finger morphology	1105	CHD1	OMIM:617682
HP:0001167	Abnormal finger morphology	3720	JARID2	OMIM:620098
HP:0001167	Abnormal finger morphology	7317	UBA1	ORPHA:1145
HP:0001167	Abnormal finger morphology	3868	KRT16	ORPHA:2199
HP:0001167	Abnormal finger morphology	3857	KRT9	ORPHA:2199
HP:0001167	Abnormal finger morphology	3848	KRT1	ORPHA:2199
HP:0001167	Abnormal finger morphology	79796	ALG9	ORPHA:79328
HP:0001167	Abnormal finger morphology	22858	CILK1	OMIM:612651
HP:0001167	Abnormal finger morphology	54928	BPNT2	OMIM:614078
HP:0001167	Abnormal finger morphology	3955	LFNG	OMIM:609813
HP:0001167	Abnormal finger morphology	10525	HYOU1	OMIM:233600
HP:0001167	Abnormal finger morphology	93587	TRMT10A	ORPHA:391408
HP:0001167	Abnormal finger morphology	84919	PPP1R15B	ORPHA:391408
HP:0001167	Abnormal finger morphology	4810	NHS	OMIM:302350
HP:0001167	Abnormal finger morphology	1499	CTNNB1	OMIM:615075
HP:0001167	Abnormal finger morphology	9181	ARHGEF2	OMIM:617523
HP:0001167	Abnormal finger morphology	93627	TBCK	ORPHA:488632
HP:0001167	Abnormal finger morphology	93627	TBCK	OMIM:616900
HP:0001167	Abnormal finger morphology	5593	PRKG2	OMIM:619636
HP:0001167	Abnormal finger morphology	3736	KCNA1	ORPHA:1934
HP:0001167	Abnormal finger morphology	9091	PIGQ	ORPHA:1934
HP:0001167	Abnormal finger morphology	2775	GNAO1	ORPHA:1934
HP:0001167	Abnormal finger morphology	81603	TRIM8	ORPHA:1934
HP:0001167	Abnormal finger morphology	2902	GRIN1	ORPHA:1934
HP:0001167	Abnormal finger morphology	79751	SLC25A22	ORPHA:1934
HP:0001167	Abnormal finger morphology	150094	SIK1	ORPHA:1934
HP:0001167	Abnormal finger morphology	8573	CASK	ORPHA:1934
HP:0001167	Abnormal finger morphology	23312	DMXL2	ORPHA:1934
HP:0001167	Abnormal finger morphology	2917	GRM7	ORPHA:1934
HP:0001167	Abnormal finger morphology	11284	PNKP	ORPHA:1934
HP:0001167	Abnormal finger morphology	6326	SCN2A	ORPHA:1934
HP:0001167	Abnormal finger morphology	51227	PIGP	ORPHA:1934
HP:0001167	Abnormal finger morphology	6324	SCN1B	ORPHA:1934
HP:0001167	Abnormal finger morphology	4761	NEUROD2	ORPHA:1934
HP:0001167	Abnormal finger morphology	11253	MAN1B1	ORPHA:397941
HP:0001167	Abnormal finger morphology	11253	MAN1B1	OMIM:614202
HP:0001167	Abnormal finger morphology	340533	NEXMIF	OMIM:300912
HP:0001167	Abnormal finger morphology	1139	CHRNA7	ORPHA:199318
HP:0001167	Abnormal finger morphology	1139	CHRNA7	OMIM:612001
HP:0001167	Abnormal finger morphology	2132	EXT2	OMIM:616682
HP:0001167	Abnormal finger morphology	23135	KDM6B	OMIM:618505
HP:0001167	Abnormal finger morphology	6659	SOX4	OMIM:618506
HP:0001167	Abnormal finger morphology	1947	EFNB1	ORPHA:1520
HP:0001167	Abnormal finger morphology	1947	EFNB1	OMIM:304110
HP:0001167	Abnormal finger morphology	4010	LMX1B	ORPHA:2614
HP:0001167	Abnormal finger morphology	4010	LMX1B	OMIM:161200
HP:0001167	Abnormal finger morphology	10054	UBA2	OMIM:619959
HP:0001167	Abnormal finger morphology	51126	NAA20	OMIM:619717
HP:0001167	Abnormal finger morphology	9820	CUL7	ORPHA:2616
HP:0001167	Abnormal finger morphology	9820	CUL7	OMIM:273750
HP:0001167	Abnormal finger morphology	23363	OBSL1	ORPHA:2616
HP:0001167	Abnormal finger morphology	83987	CCDC8	ORPHA:2616
HP:0001167	Abnormal finger morphology	83987	CCDC8	OMIM:614205
HP:0001167	Abnormal finger morphology	7021	TFAP2B	OMIM:169100
HP:0001167	Abnormal finger morphology	7021	TFAP2B	ORPHA:46627
HP:0001167	Abnormal finger morphology	7021	TFAP2B	OMIM:617035
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:231140
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:231144
HP:0001167	Abnormal finger morphology	3481	IGF2	OMIM:616489
HP:0001167	Abnormal finger morphology	3481	IGF2	OMIM:180860
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:397590
HP:0001167	Abnormal finger morphology	283120	H19	ORPHA:231140
HP:0001167	Abnormal finger morphology	283120	H19	ORPHA:231144
HP:0001167	Abnormal finger morphology	197131	UBR1	OMIM:243800
HP:0001167	Abnormal finger morphology	4286	MITF	OMIM:617306
HP:0001167	Abnormal finger morphology	23384	SPECC1L	ORPHA:1519
HP:0001167	Abnormal finger morphology	112752	IFT43	ORPHA:1515
HP:0001167	Abnormal finger morphology	51098	IFT52	ORPHA:1515
HP:0001167	Abnormal finger morphology	55764	IFT122	ORPHA:1515
HP:0001167	Abnormal finger morphology	57728	WDR19	ORPHA:1515
HP:0001167	Abnormal finger morphology	55636	CHD7	ORPHA:138
HP:0001167	Abnormal finger morphology	9723	SEMA3E	ORPHA:138
HP:0001167	Abnormal finger morphology	90	ACVR1	OMIM:135100
HP:0001167	Abnormal finger morphology	90	ACVR1	ORPHA:337
HP:0001167	Abnormal finger morphology	3190	HNRNPK	OMIM:616580
HP:0001167	Abnormal finger morphology	54880	BCOR	ORPHA:2712
HP:0001167	Abnormal finger morphology	54880	BCOR	ORPHA:568
HP:0001167	Abnormal finger morphology	10606	PAICS	OMIM:619859
HP:0001167	Abnormal finger morphology	1009	CDH11	OMIM:619736
HP:0001167	Abnormal finger morphology	64359	NXN	ORPHA:1507
HP:0001167	Abnormal finger morphology	4920	ROR2	ORPHA:1507
HP:0001167	Abnormal finger morphology	652	BMP4	OMIM:607932
HP:0001167	Abnormal finger morphology	1301	COL11A1	OMIM:228520
HP:0001167	Abnormal finger morphology	1301	COL11A1	OMIM:154780
HP:0001167	Abnormal finger morphology	23327	NEDD4L	OMIM:617201
HP:0001167	Abnormal finger morphology	7291	TWIST1	OMIM:101400
HP:0001167	Abnormal finger morphology	7291	TWIST1	ORPHA:794
HP:0001167	Abnormal finger morphology	3981	LIG4	ORPHA:235
HP:0001167	Abnormal finger morphology	3981	LIG4	ORPHA:99812
HP:0001167	Abnormal finger morphology	3981	LIG4	OMIM:606593
HP:0001167	Abnormal finger morphology	54888	NSUN2	ORPHA:235
HP:0001167	Abnormal finger morphology	1182	CLCN3	OMIM:619512
HP:0001167	Abnormal finger morphology	85301	COL27A1	OMIM:615155
HP:0001167	Abnormal finger morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001167	Abnormal finger morphology	5048	PAFAH1B1	ORPHA:531
HP:0001167	Abnormal finger morphology	7531	YWHAE	ORPHA:217385
HP:0001167	Abnormal finger morphology	7531	YWHAE	ORPHA:531
HP:0001167	Abnormal finger morphology	2121	EVC	OMIM:193530
HP:0001167	Abnormal finger morphology	2121	EVC	ORPHA:952
HP:0001167	Abnormal finger morphology	132884	EVC2	OMIM:193530
HP:0001167	Abnormal finger morphology	132884	EVC2	ORPHA:952
HP:0001167	Abnormal finger morphology	8364	H4C3	OMIM:619758
HP:0001167	Abnormal finger morphology	5590	PRKCZ	ORPHA:1606
HP:0001167	Abnormal finger morphology	2563	GABRD	ORPHA:1606
HP:0001167	Abnormal finger morphology	8510	MMP23B	ORPHA:1606
HP:0001167	Abnormal finger morphology	7798	LUZP1	ORPHA:1606
HP:0001167	Abnormal finger morphology	6497	SKI	ORPHA:1606
HP:0001167	Abnormal finger morphology	10630	PDPN	ORPHA:1606
HP:0001167	Abnormal finger morphology	3339	HSPG2	ORPHA:1606
HP:0001167	Abnormal finger morphology	10277	UBE4B	ORPHA:1606
HP:0001167	Abnormal finger morphology	8514	KCNAB2	ORPHA:1606
HP:0001167	Abnormal finger morphology	473	RERE	ORPHA:1606
HP:0001167	Abnormal finger morphology	473	RERE	OMIM:616975
HP:0001167	Abnormal finger morphology	63976	PRDM16	ORPHA:1606
HP:0001167	Abnormal finger morphology	54897	CASZ1	ORPHA:1606
HP:0001167	Abnormal finger morphology	641	BLM	OMIM:210900
HP:0001167	Abnormal finger morphology	57492	ARID1B	ORPHA:251056
HP:0001167	Abnormal finger morphology	57492	ARID1B	OMIM:135900
HP:0001167	Abnormal finger morphology	63895	PIEZO2	ORPHA:376
HP:0001167	Abnormal finger morphology	23314	SATB2	ORPHA:576283
HP:0001167	Abnormal finger morphology	23314	SATB2	ORPHA:251028
HP:0001167	Abnormal finger morphology	23314	SATB2	ORPHA:251019
HP:0001167	Abnormal finger morphology	2239	GPC4	ORPHA:373
HP:0001167	Abnormal finger morphology	2239	GPC4	ORPHA:2662
HP:0001167	Abnormal finger morphology	2719	GPC3	ORPHA:373
HP:0001167	Abnormal finger morphology	23162	MAPK8IP3	OMIM:618443
HP:0001167	Abnormal finger morphology	2317	FLNB	OMIM:272460
HP:0001167	Abnormal finger morphology	79087	ALG12	ORPHA:79324
HP:0001167	Abnormal finger morphology	6473	SHOX	ORPHA:240
HP:0001167	Abnormal finger morphology	26100	WIPI2	OMIM:618453
HP:0001167	Abnormal finger morphology	10533	ATG7	OMIM:619422
HP:0001167	Abnormal finger morphology	8295	TRRAP	OMIM:618454
HP:0001167	Abnormal finger morphology	9742	IFT140	OMIM:266920
HP:0001167	Abnormal finger morphology	7227	TRPS1	ORPHA:77258
HP:0001167	Abnormal finger morphology	3479	IGF1	ORPHA:73272
HP:0001167	Abnormal finger morphology	3479	IGF1	OMIM:608747
HP:0001167	Abnormal finger morphology	650	BMP2	OMIM:112600
HP:0001167	Abnormal finger morphology	650	BMP2	ORPHA:93396
HP:0001167	Abnormal finger morphology	650	BMP2	OMIM:617877
HP:0001167	Abnormal finger morphology	6477	SIAH1	OMIM:619314
HP:0001167	Abnormal finger morphology	8473	OGT	OMIM:300997
HP:0001167	Abnormal finger morphology	1798	DPAGT1	OMIM:608093
HP:0001167	Abnormal finger morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001167	Abnormal finger morphology	100151683	RNU4ATAC	OMIM:226960
HP:0001167	Abnormal finger morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001167	Abnormal finger morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0001167	Abnormal finger morphology	117581	TWIST2	OMIM:200110
HP:0001167	Abnormal finger morphology	117581	TWIST2	OMIM:209885
HP:0001167	Abnormal finger morphology	23030	KDM4B	OMIM:619320
HP:0001167	Abnormal finger morphology	9126	SMC3	OMIM:610759
HP:0001167	Abnormal finger morphology	9126	SMC3	ORPHA:199
HP:0001167	Abnormal finger morphology	1725	DHPS	OMIM:618480
HP:0001167	Abnormal finger morphology	55777	MBD5	OMIM:156200
HP:0001167	Abnormal finger morphology	55777	MBD5	ORPHA:228402
HP:0001167	Abnormal finger morphology	5980	REV3L	ORPHA:570
HP:0001167	Abnormal finger morphology	23129	PLXND1	ORPHA:570
HP:0001167	Abnormal finger morphology	4784	NFIX	OMIM:602535
HP:0001167	Abnormal finger morphology	4998	ORC1	OMIM:224690
HP:0001167	Abnormal finger morphology	4998	ORC1	ORPHA:2554
HP:0001167	Abnormal finger morphology	4052	LTBP1	OMIM:619451
HP:0001167	Abnormal finger morphology	8260	NAA10	OMIM:300855
HP:0001167	Abnormal finger morphology	8260	NAA10	ORPHA:568
HP:0001167	Abnormal finger morphology	9496	TBX4	ORPHA:261279
HP:0001167	Abnormal finger morphology	8091	HMGA2	ORPHA:94063
HP:0001167	Abnormal finger morphology	8091	HMGA2	ORPHA:397590
HP:0001167	Abnormal finger morphology	23592	LEMD3	ORPHA:94063
HP:0001167	Abnormal finger morphology	164	AP1G1	OMIM:619467
HP:0001167	Abnormal finger morphology	5283	PIGH	OMIM:618010
HP:0001167	Abnormal finger morphology	50801	KCNK4	OMIM:618381
HP:0001167	Abnormal finger morphology	9757	KMT2B	ORPHA:589618
HP:0001167	Abnormal finger morphology	4613	MYCN	ORPHA:391641
HP:0001167	Abnormal finger morphology	57003	CCDC47	OMIM:618268
HP:0001167	Abnormal finger morphology	5977	DPF2	OMIM:618027
HP:0001167	Abnormal finger morphology	94005	PIGS	OMIM:618143
HP:0001167	Abnormal finger morphology	145173	B3GLCT	OMIM:261540
HP:0001167	Abnormal finger morphology	145173	B3GLCT	ORPHA:709
HP:0001167	Abnormal finger morphology	92002	CCNQ	OMIM:300707
HP:0001167	Abnormal finger morphology	92002	CCNQ	ORPHA:140952
HP:0001167	Abnormal finger morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001167	Abnormal finger morphology	526	ATP6V1B2	ORPHA:79500
HP:0001167	Abnormal finger morphology	57465	TBC1D24	ORPHA:79500
HP:0001167	Abnormal finger morphology	57465	TBC1D24	OMIM:220500
HP:0001167	Abnormal finger morphology	5728	PTEN	ORPHA:744
HP:0001167	Abnormal finger morphology	207	AKT1	ORPHA:744
HP:0001167	Abnormal finger morphology	2887	GRB10	ORPHA:96182
HP:0001167	Abnormal finger morphology	1457	CSNK2A1	OMIM:617062
HP:0001167	Abnormal finger morphology	51715	RAB23	OMIM:201000
HP:0001167	Abnormal finger morphology	28952	CCDC22	OMIM:300963
HP:0001167	Abnormal finger morphology	90416	CCDC32	OMIM:619123
HP:0001167	Abnormal finger morphology	8450	CUL4B	ORPHA:85293
HP:0001167	Abnormal finger morphology	55717	WDR11	OMIM:620237
HP:0001167	Abnormal finger morphology	118924	FRA10AC1	OMIM:620113
HP:0001167	Abnormal finger morphology	22995	CEP152	OMIM:613823
HP:0001167	Abnormal finger morphology	22995	CEP152	ORPHA:808
HP:0001167	Abnormal finger morphology	3549	IHH	OMIM:112500
HP:0001167	Abnormal finger morphology	3549	IHH	ORPHA:93388
HP:0001167	Abnormal finger morphology	3090	HIC1	ORPHA:531
HP:0001167	Abnormal finger morphology	10436	EMG1	OMIM:211180
HP:0001167	Abnormal finger morphology	10436	EMG1	ORPHA:1270
HP:0001167	Abnormal finger morphology	23387	SIK3	OMIM:618162
HP:0001167	Abnormal finger morphology	10084	PQBP1	OMIM:309500
HP:0001167	Abnormal finger morphology	5745	PTH1R	OMIM:156400
HP:0001167	Abnormal finger morphology	89970	RSPRY1	ORPHA:457395
HP:0001167	Abnormal finger morphology	9487	PIGL	OMIM:280000
HP:0001167	Abnormal finger morphology	22800	RRAS2	ORPHA:648
HP:0001167	Abnormal finger morphology	867	CBL	ORPHA:648
HP:0001167	Abnormal finger morphology	8216	LZTR1	ORPHA:648
HP:0001167	Abnormal finger morphology	6016	RIT1	ORPHA:648
HP:0001167	Abnormal finger morphology	6237	RRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	5894	RAF1	ORPHA:648
HP:0001167	Abnormal finger morphology	22808	MRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	3845	KRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	200734	SPRED2	ORPHA:648
HP:0001167	Abnormal finger morphology	4893	NRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	6654	SOS1	ORPHA:648
HP:0001167	Abnormal finger morphology	6655	SOS2	ORPHA:648
HP:0001167	Abnormal finger morphology	5781	PTPN11	ORPHA:648
HP:0001167	Abnormal finger morphology	5922	RASA2	ORPHA:648
HP:0001167	Abnormal finger morphology	23522	KAT6B	ORPHA:3047
HP:0001167	Abnormal finger morphology	6913	TBX15	OMIM:260660
HP:0001167	Abnormal finger morphology	79023	NUP37	OMIM:618179
HP:0001167	Abnormal finger morphology	375056	MIA3	OMIM:619269
HP:0001167	Abnormal finger morphology	27161	AGO2	OMIM:619149
HP:0001167	Abnormal finger morphology	5567	PRKACB	OMIM:619143
HP:0001167	Abnormal finger morphology	221927	BRAT1	OMIM:618056
HP:0001167	Abnormal finger morphology	8823	FGF16	OMIM:309630
HP:0001167	Abnormal finger morphology	5518	PPP2R1A	ORPHA:457284
HP:0001167	Abnormal finger morphology	161742	SPRED1	ORPHA:137605
HP:0001167	Abnormal finger morphology	7337	UBE3A	ORPHA:238446
HP:0001167	Abnormal finger morphology	1832	DSP	ORPHA:158687
HP:0001167	Abnormal finger morphology	1832	DSP	OMIM:609638
HP:0001167	Abnormal finger morphology	3728	JUP	ORPHA:158687
HP:0001167	Abnormal finger morphology	23241	PACS2	OMIM:618067
HP:0001167	Abnormal finger morphology	5885	RAD21	OMIM:614701
HP:0001167	Abnormal finger morphology	5885	RAD21	ORPHA:199
HP:0001167	Abnormal finger morphology	7518	XRCC4	ORPHA:99812
HP:0001167	Abnormal finger morphology	3209	HOXA13	OMIM:140000
HP:0001167	Abnormal finger morphology	3209	HOXA13	ORPHA:2438
HP:0001167	Abnormal finger morphology	8854	ALDH1A2	OMIM:620025
HP:0001167	Abnormal finger morphology	10274	STAG1	ORPHA:502434
HP:0001167	Abnormal finger morphology	9241	NOG	ORPHA:3250
HP:0001167	Abnormal finger morphology	9241	NOG	OMIM:186500
HP:0001167	Abnormal finger morphology	613	BCR	ORPHA:261330
HP:0001167	Abnormal finger morphology	1399	CRKL	ORPHA:261330
HP:0001167	Abnormal finger morphology	89910	UBE3B	OMIM:244450
HP:0001167	Abnormal finger morphology	2314	FLII	ORPHA:819
HP:0001167	Abnormal finger morphology	23096	IQSEC2	ORPHA:819
HP:0001167	Abnormal finger morphology	10743	RAI1	ORPHA:819
HP:0001167	Abnormal finger morphology	10522	DEAF1	ORPHA:819
HP:0001167	Abnormal finger morphology	150468	CKAP2L	ORPHA:3255
HP:0001167	Abnormal finger morphology	9184	BUB3	ORPHA:1052
HP:0001167	Abnormal finger morphology	699	BUB1	ORPHA:1052
HP:0001167	Abnormal finger morphology	699	BUB1	OMIM:620183
HP:0001167	Abnormal finger morphology	9702	CEP57	ORPHA:1052
HP:0001167	Abnormal finger morphology	9702	CEP57	OMIM:614114
HP:0001167	Abnormal finger morphology	9319	TRIP13	ORPHA:1052
HP:0001167	Abnormal finger morphology	701	BUB1B	ORPHA:1052
HP:0001167	Abnormal finger morphology	54476	RNF216	ORPHA:1173
HP:0001167	Abnormal finger morphology	10908	PNPLA6	ORPHA:1173
HP:0001167	Abnormal finger morphology	23036	ZNF292	OMIM:619188
HP:0001167	Abnormal finger morphology	51199	NIN	OMIM:614851
HP:0001167	Abnormal finger morphology	51199	NIN	ORPHA:319675
HP:0001167	Abnormal finger morphology	1954	MEGF8	OMIM:614976
HP:0001167	Abnormal finger morphology	1857	DVL3	ORPHA:3107
HP:0001167	Abnormal finger morphology	7474	WNT5A	ORPHA:3107
HP:0001167	Abnormal finger morphology	1855	DVL1	ORPHA:3107
HP:0001167	Abnormal finger morphology	2535	FZD2	ORPHA:3107
HP:0001167	Abnormal finger morphology	2535	FZD2	OMIM:164745
HP:0001167	Abnormal finger morphology	26053	AUTS2	OMIM:615834
HP:0001167	Abnormal finger morphology	2122	MECOM	ORPHA:71289
HP:0001167	Abnormal finger morphology	3207	HOXA11	ORPHA:71289
HP:0001167	Abnormal finger morphology	3207	HOXA11	OMIM:605432
HP:0001167	Abnormal finger morphology	81031	SLC2A10	ORPHA:3342
HP:0001167	Abnormal finger morphology	55165	CEP55	OMIM:236500
HP:0001167	Abnormal finger morphology	10236	HNRNPR	OMIM:620073
HP:0001167	Abnormal finger morphology	6628	SNRPB	ORPHA:1393
HP:0001167	Abnormal finger morphology	6628	SNRPB	OMIM:117650
HP:0001167	Abnormal finger morphology	1028	CDKN1C	ORPHA:397590
HP:0001167	Abnormal finger morphology	5324	PLAG1	ORPHA:397590
HP:0001167	Abnormal finger morphology	9555	MACROH2A1	ORPHA:1275
HP:0001167	Abnormal finger morphology	5307	PITX1	ORPHA:1275
HP:0001167	Abnormal finger morphology	5422	POLA1	ORPHA:163976
HP:0001167	Abnormal finger morphology	5422	POLA1	OMIM:301030
HP:0001167	Abnormal finger morphology	55906	ZC4H2	ORPHA:3454
HP:0001167	Abnormal finger morphology	10430	TMEM147	OMIM:620075
HP:0001167	Abnormal finger morphology	3187	HNRNPH1	OMIM:620083
HP:0001167	Abnormal finger morphology	23414	ZFPM2	OMIM:187500
HP:0001167	Abnormal finger morphology	23414	ZFPM2	ORPHA:3303
HP:0001167	Abnormal finger morphology	1482	NKX2-5	OMIM:187500
HP:0001167	Abnormal finger morphology	1482	NKX2-5	ORPHA:3303
HP:0001167	Abnormal finger morphology	182	JAG1	OMIM:187500
HP:0001167	Abnormal finger morphology	182	JAG1	ORPHA:3303
HP:0001167	Abnormal finger morphology	6899	TBX1	OMIM:187500
HP:0001167	Abnormal finger morphology	6899	TBX1	ORPHA:3303
HP:0001167	Abnormal finger morphology	2627	GATA6	OMIM:187500
HP:0001167	Abnormal finger morphology	2627	GATA6	ORPHA:3303
HP:0001167	Abnormal finger morphology	545	ATR	ORPHA:808
HP:0001167	Abnormal finger morphology	545	ATR	OMIM:210600
HP:0001167	Abnormal finger morphology	1062	CENPE	ORPHA:808
HP:0001167	Abnormal finger morphology	5116	PCNT	ORPHA:808
HP:0001167	Abnormal finger morphology	5116	PCNT	OMIM:210720
HP:0001167	Abnormal finger morphology	5116	PCNT	ORPHA:2637
HP:0001167	Abnormal finger morphology	79902	NUP85	ORPHA:808
HP:0001167	Abnormal finger morphology	84126	ATRIP	ORPHA:808
HP:0001167	Abnormal finger morphology	55835	CENPJ	ORPHA:808
HP:0001167	Abnormal finger morphology	10293	TRAIP	ORPHA:808
HP:0001167	Abnormal finger morphology	10733	PLK4	ORPHA:808
HP:0001167	Abnormal finger morphology	8626	TP63	ORPHA:69085
HP:0001167	Abnormal finger morphology	29123	ANKRD11	OMIM:148050
HP:0001167	Abnormal finger morphology	9775	EIF4A3	OMIM:268305
HP:0001167	Abnormal finger morphology	2702	GJA5	OMIM:612474
HP:0001167	Abnormal finger morphology	2702	GJA5	ORPHA:3303
HP:0001167	Abnormal finger morphology	2703	GJA8	OMIM:612474
HP:0001167	Abnormal finger morphology	4208	MEF2C	OMIM:613443
HP:0001167	Abnormal finger morphology	55690	PACS1	ORPHA:329224
HP:0001167	Abnormal finger morphology	22856	CHSY1	ORPHA:363417
HP:0001167	Abnormal finger morphology	51621	KLF13	OMIM:612001
HP:0001167	Abnormal finger morphology	5648	MASP1	OMIM:257920
HP:0001167	Abnormal finger morphology	11133	KPTN	OMIM:615637
HP:0001167	Abnormal finger morphology	11133	KPTN	ORPHA:397612
HP:0001167	Abnormal finger morphology	85358	SHANK3	OMIM:606232
HP:0001167	Abnormal finger morphology	85358	SHANK3	ORPHA:48652
HP:0001167	Abnormal finger morphology	137814	NKX2-6	ORPHA:3303
HP:0001167	Abnormal finger morphology	3791	KDR	ORPHA:3303
HP:0001167	Abnormal finger morphology	2657	GDF1	ORPHA:3303
HP:0001167	Abnormal finger morphology	140628	GATA5	ORPHA:3303
HP:0001167	Abnormal finger morphology	2324	FLT4	ORPHA:3303
HP:0001167	Abnormal finger morphology	10370	CITED2	ORPHA:3303
HP:0001167	Abnormal finger morphology	2334	AFF2	ORPHA:100973
HP:0001167	Abnormal finger morphology	10847	SRCAP	OMIM:136140
HP:0001167	Abnormal finger morphology	54808	DYM	OMIM:223800
HP:0001167	Abnormal finger morphology	84679	SLC9A7	OMIM:301024
HP:0001167	Abnormal finger morphology	10735	STAG2	OMIM:301022
HP:0001167	Abnormal finger morphology	5925	RB1	ORPHA:1587
HP:0001167	Abnormal finger morphology	7874	USP7	OMIM:616863
HP:0001167	Abnormal finger morphology	3759	KCNJ2	OMIM:170390
HP:0001167	Abnormal finger morphology	81620	CDT1	ORPHA:2554
HP:0001167	Abnormal finger morphology	5000	ORC4	ORPHA:2554
HP:0001167	Abnormal finger morphology	23594	ORC6	ORPHA:2554
HP:0001167	Abnormal finger morphology	990	CDC6	ORPHA:2554
HP:0001167	Abnormal finger morphology	51053	GMNN	ORPHA:2554
HP:0001167	Abnormal finger morphology	25	ABL1	OMIM:617602
HP:0001167	Abnormal finger morphology	29980	DONSON	OMIM:617604
HP:0001167	Abnormal finger morphology	6638	SNRPN	ORPHA:177907
HP:0001167	Abnormal finger morphology	23476	BRD4	ORPHA:199
HP:0001167	Abnormal finger morphology	10664	CTCF	ORPHA:363611
HP:0001167	Abnormal finger morphology	22931	RAB18	OMIM:614222
HP:0001167	Abnormal finger morphology	490	ATP2B1	OMIM:619910
HP:0001167	Abnormal finger morphology	284252	KCTD1	OMIM:181270
HP:0001167	Abnormal finger morphology	54870	QRICH1	OMIM:617982
HP:0001167	Abnormal finger morphology	139285	AMER1	OMIM:300373
HP:0001167	Abnormal finger morphology	4841	NONO	ORPHA:466791
HP:0001167	Abnormal finger morphology	1663	DDX11	OMIM:613398
HP:0001167	Abnormal finger morphology	2186	BPTF	OMIM:617755
HP:0001167	Abnormal finger morphology	59341	TRPV4	ORPHA:2635
HP:0001167	Abnormal finger morphology	10225	CD96	ORPHA:1308
HP:0001167	Abnormal finger morphology	4848	CNOT2	OMIM:618608
HP:0001167	Abnormal finger morphology	64131	XYLT1	ORPHA:1425
HP:0001167	Abnormal finger morphology	124583	CANT1	ORPHA:1425
HP:0001167	Abnormal finger morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001167	Abnormal finger morphology	4204	MECP2	OMIM:300260
HP:0001167	Abnormal finger morphology	55553	SOX6	OMIM:618971
HP:0001167	Abnormal finger morphology	84148	KAT8	OMIM:618974
HP:0001167	Abnormal finger morphology	58499	ZNF462	OMIM:618619
HP:0001167	Abnormal finger morphology	6598	SMARCB1	OMIM:614608
HP:0001167	Abnormal finger morphology	8838	CCN6	ORPHA:1159
HP:0001167	Abnormal finger morphology	4148	MATN3	ORPHA:93311
HP:0001167	Abnormal finger morphology	55628	ZNF407	OMIM:619557
HP:0001167	Abnormal finger morphology	23219	FBXO28	OMIM:619777
HP:0001167	Abnormal finger morphology	84265	POLR3GL	OMIM:619234
HP:0001167	Abnormal finger morphology	29072	SETD2	ORPHA:821
HP:0001167	Abnormal finger morphology	10297	APC2	ORPHA:821
HP:0001167	Abnormal finger morphology	5281	PIGF	OMIM:619356
HP:0001167	Abnormal finger morphology	4882	NPR2	OMIM:615923
HP:0001167	Abnormal finger morphology	11011	TLK2	OMIM:618050
HP:0001167	Abnormal finger morphology	5932	RBBP8	OMIM:251255
HP:0001167	Abnormal finger morphology	1147	CHUK	OMIM:619339
HP:0001167	Abnormal finger morphology	51305	KCNK9	ORPHA:166108
HP:0001167	Abnormal finger morphology	22880	MORC2	ORPHA:466768
HP:0001167	Abnormal finger morphology	825	CAPN3	ORPHA:267
HP:0001167	Abnormal finger morphology	10216	PRG4	OMIM:208250
HP:0001167	Abnormal finger morphology	113179	ADAT3	ORPHA:363528
HP:0001167	Abnormal finger morphology	54332	GDAP1	ORPHA:99948
HP:0001167	Abnormal finger morphology	4233	MET	OMIM:620019
HP:0001167	Abnormal finger morphology	54681	P4HTM	OMIM:618493
HP:0001167	Abnormal finger morphology	128674	PROKR2	OMIM:244200
HP:0001167	Abnormal finger morphology	22861	NLRP1	OMIM:615225
HP:0001167	Abnormal finger morphology	3373	HYAL1	OMIM:601492
HP:0001167	Abnormal finger morphology	64135	IFIH1	OMIM:182250
HP:0001167	Abnormal finger morphology	84720	PIGO	ORPHA:247262
HP:0001167	Abnormal finger morphology	84720	PIGO	OMIM:614749
HP:0001167	Abnormal finger morphology	93210	PGAP3	ORPHA:247262
HP:0001167	Abnormal finger morphology	93210	PGAP3	OMIM:615716
HP:0001167	Abnormal finger morphology	284098	PIGW	ORPHA:247262
HP:0001167	Abnormal finger morphology	27315	PGAP2	ORPHA:247262
HP:0001167	Abnormal finger morphology	27315	PGAP2	OMIM:614207
HP:0001167	Abnormal finger morphology	29929	ALG6	ORPHA:79320
HP:0001167	Abnormal finger morphology	3376	IARS1	ORPHA:541423
HP:0001167	Abnormal finger morphology	79068	FTO	OMIM:612938
HP:0001167	Abnormal finger morphology	4256	MGP	OMIM:245150
HP:0001167	Abnormal finger morphology	1311	COMP	ORPHA:750
HP:0001167	Abnormal finger morphology	5830	PEX5	OMIM:616716
HP:0001167	Abnormal finger morphology	6583	SLC22A4	OMIM:180300
HP:0001167	Abnormal finger morphology	26191	PTPN22	OMIM:180300
HP:0001167	Abnormal finger morphology	4261	CIITA	OMIM:180300
HP:0001167	Abnormal finger morphology	51744	CD244	OMIM:180300
HP:0001167	Abnormal finger morphology	4795	NFKBIL1	OMIM:180300
HP:0001167	Abnormal finger morphology	3586	IL10	OMIM:180300
HP:0001167	Abnormal finger morphology	56098	PCDHGC4	OMIM:619880
HP:0001167	Abnormal finger morphology	26278	SACS	OMIM:270550
HP:0001167	Abnormal finger morphology	64324	NSD1	OMIM:117550
HP:0001167	Abnormal finger morphology	51776	MAP3K20	OMIM:616890
HP:0001167	Abnormal finger morphology	79158	GNPTAB	OMIM:252600
HP:0001167	Abnormal finger morphology	7994	KAT6A	OMIM:616268
HP:0001167	Abnormal finger morphology	7466	WFS1	OMIM:222300
HP:0001167	Abnormal finger morphology	54829	ASPN	OMIM:607850
HP:0001167	Abnormal finger morphology	1302	COL11A2	OMIM:215150
HP:0001167	Abnormal finger morphology	6597	SMARCA4	OMIM:614609
HP:0001167	Abnormal finger morphology	1290	COL5A2	ORPHA:287
HP:0001167	Abnormal finger morphology	3861	KRT14	ORPHA:69087
HP:0001167	Abnormal finger morphology	79912	PYROXD1	OMIM:617258
HP:0001167	Abnormal finger morphology	10093	ARPC4	OMIM:620141
HP:0001167	Abnormal finger morphology	56992	KIF15	ORPHA:261323
HP:0001167	Abnormal finger morphology	6601	SMARCC2	ORPHA:1465
HP:0001167	Abnormal finger morphology	6602	SMARCD1	ORPHA:1465
HP:0001167	Abnormal finger morphology	196528	ARID2	ORPHA:1465
HP:0001167	Abnormal finger morphology	5879	RAC1	ORPHA:500159
HP:0001167	Abnormal finger morphology	5286	PIK3C2A	ORPHA:557003
HP:0001167	Abnormal finger morphology	1327	COX4I1	OMIM:619060
HP:0001167	Abnormal finger morphology	7403	KDM6A	OMIM:300867
HP:0001167	Abnormal finger morphology	7403	KDM6A	ORPHA:2322
HP:0001167	Abnormal finger morphology	7403	KDM6A	OMIM:147920
HP:0001167	Abnormal finger morphology	8085	KMT2D	ORPHA:2322
HP:0001167	Abnormal finger morphology	8085	KMT2D	OMIM:147920
HP:0001167	Abnormal finger morphology	23291	FBXW11	OMIM:618914
HP:0001167	Abnormal finger morphology	10765	KDM5B	OMIM:618109
HP:0001167	Abnormal finger morphology	6909	TBX2	OMIM:618223
HP:0001167	Abnormal finger morphology	242	ALOX12B	OMIM:242100
HP:0001167	Abnormal finger morphology	59344	ALOXE3	OMIM:242100
HP:0001167	Abnormal finger morphology	7840	ALMS1	ORPHA:64
HP:0001167	Abnormal finger morphology	9131	AIFM1	OMIM:300232
HP:0001167	Abnormal finger morphology	1144	CHRND	OMIM:253290
HP:0001167	Abnormal finger morphology	1134	CHRNA1	OMIM:253290
HP:0001167	Abnormal finger morphology	50814	NSDHL	OMIM:308050
HP:0001167	Abnormal finger morphology	2019	EN1	OMIM:619218
HP:0001167	Abnormal finger morphology	51651	PTRH2	OMIM:616263
HP:0001167	Abnormal finger morphology	51651	PTRH2	ORPHA:456312
HP:0001167	Abnormal finger morphology	22930	RAB3GAP1	ORPHA:1387
HP:0001167	Abnormal finger morphology	25782	RAB3GAP2	ORPHA:1387
HP:0001167	Abnormal finger morphology	1836	SLC26A2	ORPHA:628
HP:0001167	Abnormal finger morphology	1836	SLC26A2	OMIM:222600
HP:0001167	Abnormal finger morphology	50945	TBX22	ORPHA:921
HP:0001167	Abnormal finger morphology	9382	COG1	OMIM:611209
HP:0001167	Abnormal finger morphology	101929726	MYMX	ORPHA:1358
HP:0001167	Abnormal finger morphology	5295	PIK3R1	OMIM:269880
HP:0001167	Abnormal finger morphology	2146	EZH2	OMIM:277590
HP:0001167	Abnormal finger morphology	7681	MKRN3	OMIM:176270
HP:0001167	Abnormal finger morphology	3653	IPW	OMIM:176270
HP:0001167	Abnormal finger morphology	791114	PWRN1	OMIM:176270
HP:0001167	Abnormal finger morphology	100033413	SNORD116-1	OMIM:176270
HP:0001167	Abnormal finger morphology	8924	HERC2	OMIM:176270
HP:0001167	Abnormal finger morphology	145624	PWAR1	OMIM:176270
HP:0001167	Abnormal finger morphology	23742	NPAP1	OMIM:176270
HP:0001167	Abnormal finger morphology	338433	SNORD115-1	OMIM:176270
HP:0001167	Abnormal finger morphology	3480	IGF1R	OMIM:270450
HP:0001167	Abnormal finger morphology	5604	MAP2K1	OMIM:163950
HP:0001167	Abnormal finger morphology	1277	COL1A1	OMIM:130060
HP:0001167	Abnormal finger morphology	8985	PLOD3	OMIM:612394
HP:0001167	Abnormal finger morphology	80144	FRAS1	OMIM:219000
HP:0001167	Abnormal finger morphology	55012	PPP2R3C	OMIM:618419
HP:0001167	Abnormal finger morphology	5053	PAH	ORPHA:2209
HP:0001167	Abnormal finger morphology	55280	CWF19L1	ORPHA:453521
HP:0001167	Abnormal finger morphology	9361	LONP1	OMIM:600373
HP:0001167	Abnormal finger morphology	579	NKX3-2	OMIM:613330
HP:0001167	Abnormal finger morphology	8314	BAP1	OMIM:619762
HP:0001167	Abnormal finger morphology	4247	MGAT2	OMIM:212066
HP:0001167	Abnormal finger morphology	6885	MAP3K7	ORPHA:1826
HP:0001167	Abnormal finger morphology	5293	PIK3CD	ORPHA:221139
HP:0001167	Abnormal finger morphology	90417	KNSTRN	ORPHA:221139
HP:0001167	Abnormal finger morphology	2778	GNAS	ORPHA:79445
HP:0001167	Abnormal finger morphology	26092	TOR1AIP1	OMIM:617072
HP:0001167	Abnormal finger morphology	6662	SOX9	OMIM:114290
HP:0001167	Abnormal finger morphology	3425	IDUA	OMIM:607015
HP:0001167	Abnormal finger morphology	23586	RIGI	OMIM:616298
HP:0001167	Abnormal finger morphology	25923	ATL3	OMIM:615632
HP:0001167	Abnormal finger morphology	4626	MYH8	ORPHA:3377
HP:0001167	Abnormal finger morphology	340419	RSPO2	OMIM:618022
HP:0001167	Abnormal finger morphology	8452	CUL3	OMIM:619239
HP:0001167	Abnormal finger morphology	324	APC	ORPHA:3258
HP:0001167	Abnormal finger morphology	407975	MIR17HG	ORPHA:391646
HP:0001167	Abnormal finger morphology	4053	LTBP2	ORPHA:3449
HP:0001167	Abnormal finger morphology	81794	ADAMTS10	ORPHA:3449
HP:0001167	Abnormal finger morphology	3590	IL11RA	OMIM:614188
HP:0001167	Abnormal finger morphology	55733	HHAT	OMIM:600092
HP:0001167	Abnormal finger morphology	55733	HHAT	ORPHA:1422
HP:0001167	Abnormal finger morphology	5130	PCYT1A	ORPHA:85167
HP:0001167	Abnormal finger morphology	5139	PDE3A	ORPHA:1276
HP:0001167	Abnormal finger morphology	5139	PDE3A	OMIM:112410
HP:0001167	Abnormal finger morphology	3417	IDH1	ORPHA:99646
HP:0001167	Abnormal finger morphology	1788	DNMT3A	OMIM:618724
HP:0001167	Abnormal finger morphology	1807	DPYS	OMIM:222748
HP:0001167	Abnormal finger morphology	5144	PDE4D	ORPHA:280651
HP:0001167	Abnormal finger morphology	5144	PDE4D	ORPHA:439822
HP:0001167	Abnormal finger morphology	5144	PDE4D	OMIM:614613
HP:0001167	Abnormal finger morphology	9509	ADAMTS2	OMIM:225410
HP:0001167	Abnormal finger morphology	54101	RIPK4	OMIM:263650
HP:0001167	Abnormal finger morphology	83452	RAB33B	OMIM:615222
HP:0001167	Abnormal finger morphology	64682	ANAPC1	ORPHA:221008
HP:0001167	Abnormal finger morphology	9653	HS2ST1	OMIM:619194
HP:0001167	Abnormal finger morphology	55209	SETD5	ORPHA:404440
HP:0001167	Abnormal finger morphology	55209	SETD5	OMIM:615761
HP:0001167	Abnormal finger morphology	4038	LRP4	ORPHA:3152
HP:0001167	Abnormal finger morphology	50964	SOST	ORPHA:3152
HP:0001167	Abnormal finger morphology	1513	CTSK	ORPHA:763
HP:0001167	Abnormal finger morphology	1513	CTSK	OMIM:265800
HP:0001167	Abnormal finger morphology	8815	BANF1	OMIM:614008
HP:0001167	Abnormal finger morphology	25871	NEPRO	OMIM:618853
HP:0001167	Abnormal finger morphology	4921	DDR2	OMIM:271665
HP:0001167	Abnormal finger morphology	9469	CHST3	OMIM:245600
HP:0001167	Abnormal finger morphology	26229	B3GAT3	OMIM:245600
HP:0001167	Abnormal finger morphology	10617	STAMBP	OMIM:614261
HP:0001167	Abnormal finger morphology	2335	FN1	ORPHA:93315
HP:0001167	Abnormal finger morphology	51412	ACTL6B	OMIM:618470
HP:0001167	Abnormal finger morphology	55784	MCTP2	ORPHA:1596
HP:0001167	Abnormal finger morphology	5744	PTHLH	ORPHA:93387
HP:0001167	Abnormal finger morphology	3764	KCNJ8	ORPHA:1517
HP:0001167	Abnormal finger morphology	10060	ABCC9	ORPHA:1517
HP:0001167	Abnormal finger morphology	10651	MTX2	ORPHA:90153
HP:0001167	Abnormal finger morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001167	Abnormal finger morphology	29957	SLC25A24	ORPHA:2963
HP:0001167	Abnormal finger morphology	29957	SLC25A24	ORPHA:2095
HP:0001167	Abnormal finger morphology	29957	SLC25A24	OMIM:612289
HP:0001167	Abnormal finger morphology	24140	FTSJ1	OMIM:309549
HP:0001167	Abnormal finger morphology	54496	PRMT7	OMIM:617157
HP:0001167	Abnormal finger morphology	8289	ARID1A	OMIM:614607
HP:0001167	Abnormal finger morphology	2475	MTOR	OMIM:616638
HP:0001167	Abnormal finger morphology	9419	CRIPT	OMIM:615789
HP:0001167	Abnormal finger morphology	4853	NOTCH2	ORPHA:955
HP:0001167	Abnormal finger morphology	54	ACP5	ORPHA:1855
HP:0001167	Abnormal finger morphology	1300	COL10A1	OMIM:156500
HP:0001167	Abnormal finger morphology	2677	GGCX	OMIM:277450
HP:0001167	Abnormal finger morphology	10283	CWC27	OMIM:250410
HP:0001167	Abnormal finger morphology	415	ARSL	ORPHA:79345
HP:0001167	Abnormal finger morphology	415	ARSL	OMIM:302950
HP:0001167	Abnormal finger morphology	25839	COG4	OMIM:618150
HP:0001167	Abnormal finger morphology	26137	ZBTB20	OMIM:259050
HP:0001167	Abnormal finger morphology	60401	EDA2R	ORPHA:181
HP:0001167	Abnormal finger morphology	1896	EDA	ORPHA:181
HP:0001167	Abnormal finger morphology	5159	PDGFRB	OMIM:601812
HP:0001167	Abnormal finger morphology	3516	RBPJ	ORPHA:974
HP:0001167	Abnormal finger morphology	3516	RBPJ	OMIM:614814
HP:0001167	Abnormal finger morphology	4851	NOTCH1	ORPHA:974
HP:0001167	Abnormal finger morphology	57514	ARHGAP31	ORPHA:974
HP:0001167	Abnormal finger morphology	57572	DOCK6	ORPHA:974
HP:0001167	Abnormal finger morphology	285203	EOGT	ORPHA:974
HP:0001167	Abnormal finger morphology	54567	DLL4	ORPHA:974
HP:0001167	Abnormal finger morphology	1186	CLCN7	ORPHA:53
HP:0001167	Abnormal finger morphology	6664	SOX11	OMIM:615866
HP:0001167	Abnormal finger morphology	55081	IFT57	OMIM:617927
HP:0001167	Abnormal finger morphology	25886	POC1A	OMIM:614813
HP:0001167	Abnormal finger morphology	865	CBFB	OMIM:620099
HP:0001167	Abnormal finger morphology	6711	SPTBN1	OMIM:619475
HP:0001167	Abnormal finger morphology	71	ACTG1	ORPHA:2995
HP:0001167	Abnormal finger morphology	60	ACTB	ORPHA:2995
HP:0001167	Abnormal finger morphology	6910	TBX5	OMIM:142900
HP:0001167	Abnormal finger morphology	6135	RPL11	ORPHA:124
HP:0001167	Abnormal finger morphology	6138	RPL15	ORPHA:124
HP:0001167	Abnormal finger morphology	6229	RPS24	ORPHA:124
HP:0001167	Abnormal finger morphology	6125	RPL5	ORPHA:124
HP:0001167	Abnormal finger morphology	6204	RPS10	ORPHA:124
HP:0001167	Abnormal finger morphology	6224	RPS20	ORPHA:124
HP:0001167	Abnormal finger morphology	6165	RPL35A	ORPHA:124
HP:0001167	Abnormal finger morphology	2623	GATA1	ORPHA:124
HP:0001167	Abnormal finger morphology	6223	RPS19	ORPHA:124
HP:0001167	Abnormal finger morphology	6223	RPS19	OMIM:105650
HP:0001167	Abnormal finger morphology	6232	RPS27	ORPHA:124
HP:0001167	Abnormal finger morphology	6231	RPS26	ORPHA:124
HP:0001167	Abnormal finger morphology	11224	RPL35	ORPHA:124
HP:0001167	Abnormal finger morphology	6160	RPL31	ORPHA:124
HP:0001167	Abnormal finger morphology	6218	RPS17	ORPHA:124
HP:0001167	Abnormal finger morphology	6201	RPS7	ORPHA:124
HP:0001167	Abnormal finger morphology	6155	RPL27	ORPHA:124
HP:0001167	Abnormal finger morphology	6210	RPS15A	ORPHA:124
HP:0001167	Abnormal finger morphology	90121	TSR2	ORPHA:124
HP:0001167	Abnormal finger morphology	6141	RPL18	ORPHA:124
HP:0001167	Abnormal finger morphology	6235	RPS29	ORPHA:124
HP:0001167	Abnormal finger morphology	6234	RPS28	ORPHA:124
HP:0001167	Abnormal finger morphology	51816	ADA2	ORPHA:124
HP:0001167	Abnormal finger morphology	10992	SF3B2	OMIM:164210
HP:0001167	Abnormal finger morphology	27152	INTU	OMIM:617926
HP:0001167	Abnormal finger morphology	57020	VPS35L	OMIM:619135
HP:0001167	Abnormal finger morphology	3911	LAMA5	OMIM:620076
HP:0001167	Abnormal finger morphology	2131	EXT1	ORPHA:502
HP:0001167	Abnormal finger morphology	9321	TRIP11	OMIM:184260
HP:0001167	Abnormal finger morphology	5573	PRKAR1A	OMIM:101800
HP:0001167	Abnormal finger morphology	6023	RMRP	OMIM:250460
HP:0001167	Abnormal finger morphology	2879	GPX4	OMIM:250220
HP:0001167	Abnormal finger morphology	2074	ERCC6	OMIM:133540
HP:0001167	Abnormal finger morphology	1161	ERCC8	OMIM:216400
HP:0001167	Abnormal finger morphology	4796	TONSL	ORPHA:93357
HP:0001167	Abnormal finger morphology	9451	EIF2AK3	OMIM:226980
HP:0001167	Abnormal finger morphology	28957	MRPS28	OMIM:618958
HP:0001167	Abnormal finger morphology	80347	COASY	OMIM:618266
HP:0001167	Abnormal finger morphology	54809	SAMD9	OMIM:617053
HP:0001167	Abnormal finger morphology	348180	CTU2	OMIM:618142
HP:0001167	Abnormal finger morphology	7841	MOGS	OMIM:606056
HP:0001167	Abnormal finger morphology	7841	MOGS	ORPHA:79330
HP:0001167	Abnormal finger morphology	256297	PTF1A	OMIM:609069
HP:0001167	Abnormal finger morphology	129285	PPP1R21	OMIM:619383
HP:0001167	Abnormal finger morphology	8567	MADD	OMIM:619004
HP:0001167	Abnormal finger morphology	5297	PI4KA	OMIM:616531
HP:0001167	Abnormal finger morphology	5297	PI4KA	OMIM:619708
HP:0001167	Abnormal finger morphology	1822	ATN1	OMIM:618494
HP:0001167	Abnormal finger morphology	5591	PRKDC	OMIM:615966
HP:0001167	Abnormal finger morphology	10059	DNM1L	OMIM:614388
HP:0001167	Abnormal finger morphology	29998	BICRA	OMIM:619325
HP:0001167	Abnormal finger morphology	176	ACAN	OMIM:612813
HP:0001167	Abnormal finger morphology	176	ACAN	ORPHA:171866
HP:0001167	Abnormal finger morphology	51132	RLIM	OMIM:300978
HP:0001167	Abnormal finger morphology	92579	G6PC3	OMIM:612541
HP:0001167	Abnormal finger morphology	2260	FGFR1	ORPHA:93258
HP:0001167	Abnormal finger morphology	2260	FGFR1	OMIM:166250
HP:0001167	Abnormal finger morphology	2260	FGFR1	OMIM:101600
HP:0001167	Abnormal finger morphology	8726	EED	OMIM:617561
HP:0001167	Abnormal finger morphology	8726	EED	ORPHA:3447
HP:0001167	Abnormal finger morphology	5718	PSMD12	ORPHA:529962
HP:0001167	Abnormal finger morphology	4212	MEIS2	OMIM:600987
HP:0001167	Abnormal finger morphology	2254	FGF9	ORPHA:3237
HP:0001167	Abnormal finger morphology	2254	FGF9	OMIM:612961
HP:0001167	Abnormal finger morphology	23126	POGZ	OMIM:616364
HP:0001167	Abnormal finger morphology	285362	SUMF1	OMIM:272200
HP:0001167	Abnormal finger morphology	285362	SUMF1	ORPHA:585
HP:0001167	Abnormal finger morphology	79759	ZNF668	OMIM:620194
HP:0001167	Abnormal finger morphology	4123	MAN2C1	OMIM:619775
HP:0001167	Abnormal finger morphology	60529	ALX4	ORPHA:60015
HP:0001167	Abnormal finger morphology	79989	IFT56	OMIM:619534
HP:0001167	Abnormal finger morphology	23512	SUZ12	ORPHA:3447
HP:0001167	Abnormal finger morphology	23404	EXOSC2	OMIM:617763
HP:0001167	Abnormal finger morphology	5587	PRKD1	OMIM:617364
HP:0001167	Abnormal finger morphology	3835	KIF22	OMIM:603546
HP:0001167	Abnormal finger morphology	6840	SVIL	OMIM:619040
HP:0001167	Abnormal finger morphology	342035	GLDN	OMIM:617194
HP:0001167	Abnormal finger morphology	57190	SELENON	ORPHA:2020
HP:0001167	Abnormal finger morphology	4633	MYL2	ORPHA:2020
HP:0001167	Abnormal finger morphology	3679	ITGA7	ORPHA:2020
HP:0001167	Abnormal finger morphology	9200	HACD1	ORPHA:2020
HP:0001167	Abnormal finger morphology	7170	TPM3	ORPHA:2020
HP:0001167	Abnormal finger morphology	28982	FLVCR1	ORPHA:88628
HP:0001167	Abnormal finger morphology	28982	FLVCR1	OMIM:609033
HP:0001167	Abnormal finger morphology	4747	NEFL	ORPHA:101085
HP:0001167	Abnormal finger morphology	203859	ANO5	ORPHA:206549
HP:0001167	Abnormal finger morphology	6399	TRAPPC2	ORPHA:93284
HP:0001167	Abnormal finger morphology	5696	PSMB8	OMIM:256040
HP:0001167	Abnormal finger morphology	5692	PSMB4	OMIM:617591
HP:0001167	Abnormal finger morphology	5698	PSMB9	OMIM:617591
HP:0001167	Abnormal finger morphology	4952	OCRL	OMIM:309000
HP:0001167	Abnormal finger morphology	4313	MMP2	OMIM:259600
HP:0001167	Abnormal finger morphology	128	ADH5	OMIM:619151
HP:0001167	Abnormal finger morphology	4000	LMNA	OMIM:212112
HP:0001167	Abnormal finger morphology	55249	YY1AP1	OMIM:602531
HP:0001167	Abnormal finger morphology	10466	COG5	ORPHA:263487
HP:0001167	Abnormal finger morphology	8092	ALX1	ORPHA:306542
HP:0001167	Abnormal finger morphology	84342	COG8	OMIM:611182
HP:0001167	Abnormal finger morphology	1747	DLX3	ORPHA:3352
HP:0001167	Abnormal finger morphology	3767	KCNJ11	ORPHA:79134
HP:0001167	Abnormal finger morphology	79731	NARS2	ORPHA:79134
HP:0001167	Abnormal finger morphology	6833	ABCC8	ORPHA:79134
HP:0001167	Abnormal finger morphology	2218	FKTN	ORPHA:272
HP:0001167	Abnormal finger morphology	8294	H4C9	OMIM:619951
HP:0001167	Abnormal finger morphology	3094	HINT1	ORPHA:324442
HP:0001167	Abnormal finger morphology	7355	SLC35A2	ORPHA:356961
HP:0001167	Abnormal finger morphology	118429	ANTXR2	ORPHA:2176
HP:0001167	Abnormal finger morphology	54968	TMEM70	ORPHA:1194
HP:0001167	Abnormal finger morphology	84466	MEGF10	OMIM:614399
HP:0001167	Abnormal finger morphology	3508	IGHMBP2	OMIM:604320
HP:0001167	Abnormal finger morphology	10381	TUBB3	OMIM:600638
HP:0001167	Abnormal finger morphology	3423	IDS	ORPHA:217085
HP:0001167	Abnormal finger morphology	3423	IDS	ORPHA:217093
HP:0001167	Abnormal finger morphology	64127	NOD2	OMIM:186580
HP:0001167	Abnormal finger morphology	64127	NOD2	ORPHA:90340
HP:0001167	Abnormal finger morphology	4593	MUSK	OMIM:208150
HP:0001167	Abnormal finger morphology	4593	MUSK	ORPHA:994
HP:0001167	Abnormal finger morphology	56006	SMG9	OMIM:616920
HP:0001167	Abnormal finger morphology	9508	ADAMTS3	ORPHA:2136
HP:0001167	Abnormal finger morphology	147372	CCBE1	ORPHA:2136
HP:0001167	Abnormal finger morphology	79633	FAT4	ORPHA:2136
HP:0001167	Abnormal finger morphology	5189	PEX1	ORPHA:3220
HP:0001167	Abnormal finger morphology	5190	PEX6	ORPHA:3220
HP:0001167	Abnormal finger morphology	9719	ADAMTSL2	OMIM:231050
HP:0001167	Abnormal finger morphology	8517	IKBKG	ORPHA:464
HP:0001167	Abnormal finger morphology	55612	FERMT1	ORPHA:2908
HP:0001167	Abnormal finger morphology	1723	DHODH	ORPHA:246
HP:0001167	Abnormal finger morphology	55315	SLC29A3	OMIM:602782
HP:0001167	Abnormal finger morphology	23102	TBC1D2B	OMIM:619323
HP:0001167	Abnormal finger morphology	2068	ERCC2	OMIM:610756
HP:0001167	Abnormal finger morphology	2068	ERCC2	ORPHA:1466
HP:0001167	Abnormal finger morphology	2073	ERCC5	ORPHA:1466
HP:0001167	Abnormal finger morphology	134701	RIPPLY2	ORPHA:2311
HP:0001167	Abnormal finger morphology	10683	DLL3	ORPHA:2311
HP:0001167	Abnormal finger morphology	84667	HES7	ORPHA:2311
HP:0001167	Abnormal finger morphology	145873	MESP2	ORPHA:2311
HP:0001167	Abnormal finger morphology	4927	NUP88	ORPHA:994
HP:0001167	Abnormal finger morphology	7846	TUBA1A	ORPHA:994
HP:0001167	Abnormal finger morphology	5913	RAPSN	ORPHA:994
HP:0001167	Abnormal finger morphology	6572	SLC18A3	ORPHA:994
HP:0001167	Abnormal finger morphology	285489	DOK7	ORPHA:994
HP:0001167	Abnormal finger morphology	3914	LAMB3	OMIM:226650
HP:0001167	Abnormal finger morphology	9150	CTDP1	ORPHA:48431
HP:0001167	Abnormal finger morphology	23443	SLC35A3	OMIM:615553
HP:0001167	Abnormal finger morphology	25914	RTTN	ORPHA:468631
HP:0001167	Abnormal finger morphology	23529	CLCF1	ORPHA:1545
HP:0001167	Abnormal finger morphology	2212	FCGR2A	OMIM:219700
HP:0001167	Abnormal finger morphology	7040	TGFB1	OMIM:219700
HP:0001167	Abnormal finger morphology	1080	CFTR	OMIM:219700
HP:0001167	Abnormal finger morphology	3071	NCKAP1L	OMIM:618982
HP:0001167	Abnormal finger morphology	114548	NLRP3	OMIM:191900
HP:0001167	Abnormal finger morphology	7015	TERT	OMIM:614742
HP:0001167	Abnormal finger morphology	7015	TERT	ORPHA:2032
HP:0001167	Abnormal finger morphology	7015	TERT	OMIM:178500
HP:0001167	Abnormal finger morphology	6794	STK11	OMIM:175200
HP:0001167	Abnormal finger morphology	987	LRBA	OMIM:614700
HP:0001167	Abnormal finger morphology	6578	SLCO2A1	OMIM:167100
HP:0001167	Abnormal finger morphology	6440	SFTPC	ORPHA:2032
HP:0001167	Abnormal finger morphology	6440	SFTPC	OMIM:178500
HP:0001167	Abnormal finger morphology	729238	SFTPA2	ORPHA:2032
HP:0001167	Abnormal finger morphology	729238	SFTPA2	OMIM:178500
HP:0001167	Abnormal finger morphology	79991	STN1	ORPHA:2032
HP:0001167	Abnormal finger morphology	653509	SFTPA1	ORPHA:2032
HP:0001167	Abnormal finger morphology	21	ABCA3	ORPHA:2032
HP:0001167	Abnormal finger morphology	727897	MUC5B	ORPHA:2032
HP:0001167	Abnormal finger morphology	727897	MUC5B	OMIM:178500
HP:0001167	Abnormal finger morphology	10144	FAM13A	ORPHA:2032
HP:0001167	Abnormal finger morphology	23250	ATP11A	ORPHA:2032
HP:0001167	Abnormal finger morphology	91039	DPP9	ORPHA:2032
HP:0001167	Abnormal finger morphology	51750	RTEL1	ORPHA:2032
HP:0001167	Abnormal finger morphology	7012	TERC	ORPHA:2032
HP:0001167	Abnormal finger morphology	5073	PARN	ORPHA:2032
HP:0001167	Abnormal finger morphology	10804	GJB6	ORPHA:189
HP:0001167	Abnormal finger morphology	440275	EIF2AK4	ORPHA:199241
HP:0001167	Abnormal finger morphology	1604	CD55	OMIM:226300
HP:0001167	Abnormal finger morphology	10568	SLC34A2	ORPHA:60025
HP:0001167	Abnormal finger morphology	8884	SLC5A6	OMIM:618973
HP:0001167	Abnormal finger morphology	10125	RASGRP1	OMIM:618534
HP:0001167	Abnormal finger morphology	3248	HPGD	ORPHA:217059
HP:0001167	Abnormal finger morphology	59067	IL21	OMIM:615767
HP:0001167	Abnormal finger morphology	657	BMPR1A	ORPHA:79076
HP:0001167	Abnormal finger morphology	7092	TLL1	ORPHA:99106
HP:0001167	Abnormal finger morphology	274	BIN1	ORPHA:169186
HP:0001167	Abnormal finger morphology	10290	SPEG	ORPHA:169186
HP:0001167	Abnormal finger morphology	6261	RYR1	ORPHA:169186
HP:0001167	Abnormal finger morphology	7273	TTN	ORPHA:169186
HP:0001167	Abnormal finger morphology	57459	GATAD2B	OMIM:615074
HP:0001167	Abnormal finger morphology	57459	GATAD2B	ORPHA:363686
HP:0001167	Abnormal finger morphology	1281	COL3A1	OMIM:618343
HP:0001167	Abnormal finger morphology	6660	SOX5	OMIM:616803
HP:0001167	Abnormal finger morphology	51520	LARS1	OMIM:615438
HP:0001167	Abnormal finger morphology	11128	POLR3A	OMIM:264090
HP:0001167	Abnormal finger morphology	11128	POLR3A	ORPHA:3455
HP:0001167	Abnormal finger morphology	116931	MED12L	OMIM:618872
HP:0001167	Abnormal finger morphology	203068	TUBB	OMIM:156610
HP:0001167	Abnormal finger morphology	9772	TMEM94	OMIM:618316
HP:0001167	Abnormal finger morphology	79971	WLS	OMIM:619648
HP:0001167	Abnormal finger morphology	2556	GABRA3	OMIM:301091
HP:0001167	Abnormal finger morphology	5373	PMM2	ORPHA:79318
HP:0001167	Abnormal finger morphology	7528	YY1	OMIM:617557
HP:0001167	Abnormal finger morphology	10716	TBR1	ORPHA:1617
HP:0001167	Abnormal finger morphology	55768	NGLY1	ORPHA:404454
HP:0001169	Broad palm	54808	DYM	OMIM:223800
HP:0001169	Broad palm	1280	COL2A1	OMIM:271700
HP:0001169	Broad palm	3930	LBR	OMIM:215140
HP:0001169	Broad palm	6197	RPS6KA3	OMIM:303600
HP:0001169	Broad palm	4921	DDR2	OMIM:271665
HP:0001169	Broad palm	3549	IHH	OMIM:112500
HP:0001169	Broad palm	2245	FGD1	OMIM:305400
HP:0001169	Broad palm	2245	FGD1	ORPHA:915
HP:0001169	Broad palm	9131	AIFM1	OMIM:300232
HP:0001169	Broad palm	10743	RAI1	OMIM:182290
HP:0001169	Broad palm	145173	B3GLCT	OMIM:261540
HP:0001169	Broad palm	23135	KDM6B	OMIM:618505
HP:0001169	Broad palm	54880	BCOR	ORPHA:2712
HP:0001169	Broad palm	1778	DYNC1H1	OMIM:614563
HP:0001169	Broad palm	2260	FGFR1	OMIM:166250
HP:0001169	Broad palm	4796	TONSL	ORPHA:93357
HP:0001169	Broad palm	5745	PTH1R	ORPHA:79106
HP:0001169	Broad palm	79718	TBL1XR1	OMIM:602342
HP:0001169	Broad palm	2200	FBN1	OMIM:608328
HP:0001169	Broad palm	171023	ASXL1	OMIM:605039
HP:0001169	Broad palm	2623	GATA1	OMIM:190685
HP:0001169	Broad palm	5277	PIGA	OMIM:300868
HP:0001169	Broad palm	57560	IFT80	OMIM:611263
HP:0001169	Broad palm	55012	PPP2R3C	OMIM:618419
HP:0001169	Broad palm	23384	SPECC1L	OMIM:145420
HP:0001169	Broad palm	22907	DHX30	OMIM:617804
HP:0001169	Broad palm	2719	GPC3	OMIM:312870
HP:0001169	Broad palm	2239	GPC4	OMIM:312870
HP:0001169	Broad palm	5573	PRKAR1A	OMIM:101800
HP:0001169	Broad palm	2799	GNS	OMIM:252940
HP:0001169	Broad palm	2273	FHL1	OMIM:300280
HP:0001169	Broad palm	55343	SLC35C1	ORPHA:99843
HP:0001169	Broad palm	81794	ADAMTS10	OMIM:277600
HP:0011381	Aplasia of the semicircular canal	6663	SOX10	OMIM:611584
HP:0011381	Aplasia of the semicircular canal	55636	CHD7	OMIM:214800
HP:0011381	Aplasia of the semicircular canal	22800	RRAS2	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	867	CBL	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	8216	LZTR1	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	6016	RIT1	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	6237	RRAS	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	5894	RAF1	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	22808	MRAS	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	3845	KRAS	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	200734	SPRED2	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	4893	NRAS	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	6654	SOS1	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	6655	SOS2	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	5781	PTPN11	ORPHA:648
HP:0011381	Aplasia of the semicircular canal	5922	RASA2	ORPHA:648
HP:0011382	Hypoplasia of the semicircular canal	6663	SOX10	OMIM:611584
HP:0011382	Hypoplasia of the semicircular canal	6663	SOX10	OMIM:609136
HP:0011382	Hypoplasia of the semicircular canal	55636	CHD7	ORPHA:138
HP:0011382	Hypoplasia of the semicircular canal	9723	SEMA3E	ORPHA:138
HP:0011380	Morphological abnormality of the semicircular canal	2263	FGFR2	ORPHA:87
HP:0011380	Morphological abnormality of the semicircular canal	54845	ESRP1	OMIM:618013
HP:0011380	Morphological abnormality of the semicircular canal	80000	GREB1L	OMIM:619274
HP:0011380	Morphological abnormality of the semicircular canal	22800	RRAS2	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	867	CBL	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	8216	LZTR1	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	6016	RIT1	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	6237	RRAS	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	5894	RAF1	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	22808	MRAS	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	3845	KRAS	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	200734	SPRED2	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	4893	NRAS	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	6654	SOS1	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	6655	SOS2	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	5781	PTPN11	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	5922	RASA2	ORPHA:648
HP:0011380	Morphological abnormality of the semicircular canal	6663	SOX10	OMIM:611584
HP:0011380	Morphological abnormality of the semicircular canal	6663	SOX10	OMIM:609136
HP:0011380	Morphological abnormality of the semicircular canal	55636	CHD7	ORPHA:138
HP:0011380	Morphological abnormality of the semicircular canal	9723	SEMA3E	ORPHA:138
HP:0011386	Narrow internal auditory canal	57167	SALL4	ORPHA:233
HP:0011386	Narrow internal auditory canal	9935	MAFB	ORPHA:233
HP:0011386	Narrow internal auditory canal	1123	CHN1	ORPHA:233
HP:0011386	Narrow internal auditory canal	7291	TWIST1	ORPHA:794
HP:0011386	Narrow internal auditory canal	2263	FGFR2	ORPHA:794
HP:0011386	Narrow internal auditory canal	2263	FGFR2	ORPHA:207
HP:0011386	Narrow internal auditory canal	2261	FGFR3	ORPHA:794
HP:0011386	Narrow internal auditory canal	84172	POLR1B	ORPHA:861
HP:0011386	Narrow internal auditory canal	9533	POLR1C	ORPHA:861
HP:0011386	Narrow internal auditory canal	51082	POLR1D	ORPHA:861
HP:0011386	Narrow internal auditory canal	6949	TCOF1	ORPHA:861
HP:0011386	Narrow internal auditory canal	5396	PRRX1	ORPHA:990
HP:0011386	Narrow internal auditory canal	5015	OTX2	ORPHA:990
HP:0011386	Narrow internal auditory canal	2077	ERF	ORPHA:207
HP:0011386	Narrow internal auditory canal	5728	PTEN	ORPHA:744
HP:0011386	Narrow internal auditory canal	207	AKT1	ORPHA:744
HP:0011387	Enlarged vestibular aqueduct	3265	HRAS	ORPHA:79414
HP:0011387	Enlarged vestibular aqueduct	3766	KCNJ10	OMIM:600791
HP:0011387	Enlarged vestibular aqueduct	3766	KCNJ10	ORPHA:705
HP:0011387	Enlarged vestibular aqueduct	2299	FOXI1	OMIM:600791
HP:0011387	Enlarged vestibular aqueduct	2299	FOXI1	ORPHA:705
HP:0011387	Enlarged vestibular aqueduct	5172	SLC26A4	OMIM:600791
HP:0011387	Enlarged vestibular aqueduct	5172	SLC26A4	ORPHA:705
HP:0011387	Enlarged vestibular aqueduct	2138	EYA1	OMIM:113650
HP:0011387	Enlarged vestibular aqueduct	6495	SIX1	OMIM:113650
HP:0011387	Enlarged vestibular aqueduct	6885	MAP3K7	OMIM:157800
HP:0011388	Enlarged cochlear aqueduct	2138	EYA1	ORPHA:107
HP:0011388	Enlarged cochlear aqueduct	147912	SIX5	ORPHA:107
HP:0011388	Enlarged cochlear aqueduct	6495	SIX1	ORPHA:107
HP:0011389	Functional abnormality of the inner ear	3479	IGF1	ORPHA:73272
HP:0011389	Functional abnormality of the inner ear	153562	MARVELD2	OMIM:610153
HP:0011389	Functional abnormality of the inner ear	107	ADCY1	OMIM:610154
HP:0011389	Functional abnormality of the inner ear	55699	IARS2	ORPHA:436174
HP:0011389	Functional abnormality of the inner ear	3082	HGF	OMIM:608265
HP:0011389	Functional abnormality of the inner ear	2549	GAB1	OMIM:605428
HP:0011389	Functional abnormality of the inner ear	9015	TAF1A	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	5663	PSEN1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7112	TMPO	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	9464	HAND2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	4625	MYH7	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	88	ACTN2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	10486	CAP2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	10060	ABCC9	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7168	TPM1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7414	VCL	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	1832	DSP	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	70	ACTC1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	27063	ANKRD1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	8048	CSRP3	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	1410	CRYAB	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7139	TNNT2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	1829	DSG2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	3910	LAMA4	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	63976	PRDM16	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	63976	PRDM16	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	7273	TTN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	10587	TXNRD2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	9531	BAG3	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	5350	PLN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	91624	NEXN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	79717	PPCS	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	5664	PSEN2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	4624	MYH6	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	9529	BAG5	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	4607	MYBPC3	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	282996	RBM20	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7137	TNNI3	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	11155	LDB3	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	2274	FHL2	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	6901	TAFAZZIN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	22845	DOLK	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	5894	RAF1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	5894	RAF1	ORPHA:500
HP:0011389	Functional abnormality of the inner ear	5894	RAF1	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	1756	DMD	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	57798	GATAD1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	7134	TNNC1	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	84665	MYPN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	1674	DES	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	6444	SGCD	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	2218	FKTN	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	8557	TCAP	ORPHA:154
HP:0011389	Functional abnormality of the inner ear	51399	TRAPPC4	OMIM:618741
HP:0011389	Functional abnormality of the inner ear	23019	CNOT1	OMIM:618500
HP:0011389	Functional abnormality of the inner ear	1024	CDK8	OMIM:618748
HP:0011389	Functional abnormality of the inner ear	55823	VPS11	ORPHA:466934
HP:0011389	Functional abnormality of the inner ear	5238	PGM3	ORPHA:443811
HP:0011389	Functional abnormality of the inner ear	5238	PGM3	OMIM:615816
HP:0011389	Functional abnormality of the inner ear	5165	PDK3	OMIM:300905
HP:0011389	Functional abnormality of the inner ear	5165	PDK3	ORPHA:352675
HP:0011389	Functional abnormality of the inner ear	1786	DNMT1	ORPHA:314404
HP:0011389	Functional abnormality of the inner ear	1786	DNMT1	OMIM:614116
HP:0011389	Functional abnormality of the inner ear	1786	DNMT1	OMIM:604121
HP:0011389	Functional abnormality of the inner ear	91147	TMEM67	OMIM:602152
HP:0011389	Functional abnormality of the inner ear	51099	ABHD5	OMIM:275630
HP:0011389	Functional abnormality of the inner ear	51099	ABHD5	ORPHA:98907
HP:0011389	Functional abnormality of the inner ear	215	ABCD1	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	2668	GDNF	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	6608	SMO	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	1889	ECE1	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	6720	SREBF1	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	1908	EDN3	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	1908	EDN3	OMIM:613265
HP:0011389	Functional abnormality of the inner ear	223117	SEMA3D	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	538	ATP7A	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	1910	EDNRB	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	1910	EDNRB	OMIM:277580
HP:0011389	Functional abnormality of the inner ear	1910	EDNRB	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	10512	SEMA3C	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	2064	ERBB2	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	2064	ERBB2	OMIM:619465
HP:0011389	Functional abnormality of the inner ear	2065	ERBB3	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	4902	NRTN	ORPHA:388
HP:0011389	Functional abnormality of the inner ear	197131	UBR1	OMIM:243800
HP:0011389	Functional abnormality of the inner ear	197131	UBR1	ORPHA:2315
HP:0011389	Functional abnormality of the inner ear	23498	HAAO	OMIM:617660
HP:0011389	Functional abnormality of the inner ear	83959	SLC4A11	ORPHA:293603
HP:0011389	Functional abnormality of the inner ear	83959	SLC4A11	ORPHA:1490
HP:0011389	Functional abnormality of the inner ear	83959	SLC4A11	OMIM:217400
HP:0011389	Functional abnormality of the inner ear	9578	CDC42BPB	OMIM:619841
HP:0011389	Functional abnormality of the inner ear	396	ARHGDIA	OMIM:615244
HP:0011389	Functional abnormality of the inner ear	56616	DIABLO	OMIM:614152
HP:0011389	Functional abnormality of the inner ear	1841	DTYMK	OMIM:619847
HP:0011389	Functional abnormality of the inner ear	166378	AFG2A	OMIM:616577
HP:0011389	Functional abnormality of the inner ear	84197	POMK	OMIM:615249
HP:0011389	Functional abnormality of the inner ear	81846	SBF2	OMIM:604563
HP:0011389	Functional abnormality of the inner ear	81846	SBF2	ORPHA:99956
HP:0011389	Functional abnormality of the inner ear	55650	PIGV	OMIM:239300
HP:0011389	Functional abnormality of the inner ear	90	ACVR1	OMIM:135100
HP:0011389	Functional abnormality of the inner ear	9885	OSBPL2	OMIM:616340
HP:0011389	Functional abnormality of the inner ear	3190	HNRNPK	OMIM:616580
HP:0011389	Functional abnormality of the inner ear	3190	HNRNPK	ORPHA:453504
HP:0011389	Functional abnormality of the inner ear	3190	HNRNPK	ORPHA:352665
HP:0011389	Functional abnormality of the inner ear	317662	FAM149B1	OMIM:618763
HP:0011389	Functional abnormality of the inner ear	64834	ELOVL1	OMIM:618527
HP:0011389	Functional abnormality of the inner ear	3423	IDS	ORPHA:217085
HP:0011389	Functional abnormality of the inner ear	3423	IDS	ORPHA:217093
HP:0011389	Functional abnormality of the inner ear	79029	AFG2B	OMIM:619615
HP:0011389	Functional abnormality of the inner ear	85465	SELENOI	OMIM:618768
HP:0011389	Functional abnormality of the inner ear	5191	PEX7	OMIM:215100
HP:0011389	Functional abnormality of the inner ear	5191	PEX7	ORPHA:773
HP:0011389	Functional abnormality of the inner ear	5191	PEX7	OMIM:614879
HP:0011389	Functional abnormality of the inner ear	5191	PEX7	OMIM:266500
HP:0011389	Functional abnormality of the inner ear	4571	MT-TP	OMIM:545000
HP:0011389	Functional abnormality of the inner ear	4571	MT-TP	ORPHA:551
HP:0011389	Functional abnormality of the inner ear	4565	MT-TI	OMIM:545000
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	OMIM:618533
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	ORPHA:90654
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	ORPHA:440354
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	ORPHA:560
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	OMIM:154780
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	OMIM:604841
HP:0011389	Functional abnormality of the inner ear	1301	COL11A1	ORPHA:250984
HP:0011389	Functional abnormality of the inner ear	57231	SNX14	OMIM:616354
HP:0011389	Functional abnormality of the inner ear	57231	SNX14	ORPHA:397709
HP:0011389	Functional abnormality of the inner ear	23327	NEDD4L	OMIM:617201
HP:0011389	Functional abnormality of the inner ear	1280	COL2A1	ORPHA:90653
HP:0011389	Functional abnormality of the inner ear	1280	COL2A1	ORPHA:166100
HP:0011389	Functional abnormality of the inner ear	1280	COL2A1	OMIM:271700
HP:0011389	Functional abnormality of the inner ear	1280	COL2A1	OMIM:108300
HP:0011389	Functional abnormality of the inner ear	28514	DLL1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	28514	DLL1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	28514	DLL1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	28514	DLL1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	2253	FGF8	OMIM:612702
HP:0011389	Functional abnormality of the inner ear	6496	SIX3	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	6496	SIX3	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	6496	SIX3	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	6496	SIX3	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	7050	TGIF1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	7050	TGIF1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	7050	TGIF1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	7050	TGIF1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	4838	NODAL	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	4838	NODAL	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	4838	NODAL	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	4838	NODAL	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	6469	SHH	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	6469	SHH	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	6469	SHH	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	6469	SHH	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	7546	ZIC2	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	7546	ZIC2	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	7546	ZIC2	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	7546	ZIC2	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	6491	STIL	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	6491	STIL	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	6491	STIL	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	6491	STIL	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2619	GAS1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	2619	GAS1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	2619	GAS1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	2619	GAS1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	84976	DISP1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	84976	DISP1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	84976	DISP1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	84976	DISP1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2736	GLI2	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	2736	GLI2	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	2736	GLI2	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	2736	GLI2	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	8928	FOXH1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	8928	FOXH1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	8928	FOXH1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	8928	FOXH1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	5727	PTCH1	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	5727	PTCH1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	5727	PTCH1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	5727	PTCH1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	50937	CDON	ORPHA:93926
HP:0011389	Functional abnormality of the inner ear	50937	CDON	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	50937	CDON	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	50937	CDON	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2260	FGFR1	ORPHA:93924
HP:0011389	Functional abnormality of the inner ear	2260	FGFR1	OMIM:147950
HP:0011389	Functional abnormality of the inner ear	2260	FGFR1	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	2260	FGFR1	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	2260	FGFR1	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	8295	TRRAP	OMIM:618778
HP:0011389	Functional abnormality of the inner ear	23007	PLCH1	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	10735	STAG2	ORPHA:93925
HP:0011389	Functional abnormality of the inner ear	10735	STAG2	OMIM:301022
HP:0011389	Functional abnormality of the inner ear	10735	STAG2	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	4747	NEFL	ORPHA:101085
HP:0011389	Functional abnormality of the inner ear	4747	NEFL	OMIM:617882
HP:0011389	Functional abnormality of the inner ear	4247	MGAT2	OMIM:212066
HP:0011389	Functional abnormality of the inner ear	5590	PRKCZ	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	2563	GABRD	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	23013	SPEN	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	8510	MMP23B	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	7798	LUZP1	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	6497	SKI	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	10630	PDPN	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	3339	HSPG2	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	10277	UBE4B	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	8514	KCNAB2	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	473	RERE	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	473	RERE	OMIM:616975
HP:0011389	Functional abnormality of the inner ear	54897	CASZ1	ORPHA:1606
HP:0011389	Functional abnormality of the inner ear	285362	SUMF1	ORPHA:585
HP:0011389	Functional abnormality of the inner ear	3773	KCNJ16	OMIM:619406
HP:0011389	Functional abnormality of the inner ear	5981	RFC1	ORPHA:504476
HP:0011389	Functional abnormality of the inner ear	1758	DMP1	ORPHA:289176
HP:0011389	Functional abnormality of the inner ear	1758	DMP1	OMIM:241520
HP:0011389	Functional abnormality of the inner ear	125988	MICOS13	OMIM:618329
HP:0011389	Functional abnormality of the inner ear	84131	CEP78	OMIM:617236
HP:0011389	Functional abnormality of the inner ear	84131	CEP78	ORPHA:231183
HP:0011389	Functional abnormality of the inner ear	25836	NIPBL	OMIM:122470
HP:0011389	Functional abnormality of the inner ear	25836	NIPBL	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	2778	GNAS	ORPHA:79443
HP:0011389	Functional abnormality of the inner ear	617	BCS1L	ORPHA:123
HP:0011389	Functional abnormality of the inner ear	617	BCS1L	OMIM:262000
HP:0011389	Functional abnormality of the inner ear	25970	SH2B1	ORPHA:261197
HP:0011389	Functional abnormality of the inner ear	55151	TMEM38B	OMIM:615066
HP:0011389	Functional abnormality of the inner ear	3000	GUCY2D	OMIM:204000
HP:0011389	Functional abnormality of the inner ear	27429	HTRA2	OMIM:617248
HP:0011389	Functional abnormality of the inner ear	4001	LMNB1	ORPHA:99027
HP:0011389	Functional abnormality of the inner ear	389827	MYMK	OMIM:254940
HP:0011389	Functional abnormality of the inner ear	64132	XYLT2	OMIM:605822
HP:0011389	Functional abnormality of the inner ear	7291	TWIST1	ORPHA:794
HP:0011389	Functional abnormality of the inner ear	4549	MT-RNR1	ORPHA:551
HP:0011389	Functional abnormality of the inner ear	4564	MT-TH	ORPHA:551
HP:0011389	Functional abnormality of the inner ear	4564	MT-TH	ORPHA:550
HP:0011389	Functional abnormality of the inner ear	9361	LONP1	OMIM:600373
HP:0011389	Functional abnormality of the inner ear	9361	LONP1	ORPHA:1458
HP:0011389	Functional abnormality of the inner ear	4538	MT-ND4	ORPHA:550
HP:0011389	Functional abnormality of the inner ear	4538	MT-ND4	ORPHA:255210
HP:0011389	Functional abnormality of the inner ear	92840	REEP6	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6094	ROM1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6017	RLBP1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	24	ABCA4	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	130557	ZNF513	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	582	BBS1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	92211	CDHR1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	23568	ARL2BP	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6121	RPE65	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	54806	AHI1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6101	RP1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	3419	IDH3A	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	4751	NEK2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	346007	EYS	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	8100	IFT88	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	23020	SNRNP200	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	762	CA4	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	138050	HGSNAT	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	196	AHR	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	3614	IMPDH1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	123016	TTC8	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6103	RPGR	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	1406	CRX	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5148	PDE6G	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	26160	IFT172	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	26121	PRPF31	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	583	BBS2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	4117	MAK	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	25794	FSCN2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	375298	CERKL	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	3420	IDH3B	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	57670	KIAA1549	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	7275	TUB	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	24148	PRPF6	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	23418	CRB1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	10461	MERTK	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	57709	SLC7A14	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	768206	PRCD	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	7399	USH2A	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	7399	USH2A	ORPHA:231178
HP:0011389	Functional abnormality of the inner ear	23370	ARHGEF18	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5949	RBP3	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6010	RHO	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6100	RP9	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	10002	NR2E3	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	9227	LRAT	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	84140	FAM161A	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	55812	SPATA7	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	55624	POMGNT1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	79797	ZNF408	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	403	ARL3	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5145	PDE6A	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	10210	TOPORS	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	8842	PROM1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	9128	PRPF4	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	145226	RDH12	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	50939	IMPG2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	8481	OFD1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	49855	SCAPER	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	9742	IFT140	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	2979	GUCA1B	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	1259	CNGA1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	1258	CNGB1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	60509	AGBL5	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5961	PRPH2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	388939	PCARE	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	7439	BEST1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	9785	DHX38	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	7287	TULP1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5995	RGR	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	9129	PRPF3	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	55975	KLHL7	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	3617	IMPG1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	94137	RP1L1	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	5158	PDE6B	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6102	RP2	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	55857	KIZ	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	64218	SEMA4A	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	4901	NRL	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	157657	CFAP418	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	10594	PRPF8	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	84100	ARL6	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	6295	SAG	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	79947	DHDDS	ORPHA:791
HP:0011389	Functional abnormality of the inner ear	79947	DHDDS	OMIM:613861
HP:0011389	Functional abnormality of the inner ear	54517	PUS7	OMIM:618342
HP:0011389	Functional abnormality of the inner ear	8573	CASK	OMIM:300749
HP:0011389	Functional abnormality of the inner ear	8573	CASK	ORPHA:163937
HP:0011389	Functional abnormality of the inner ear	8573	CASK	OMIM:300422
HP:0011389	Functional abnormality of the inner ear	5551	PRF1	ORPHA:540
HP:0011389	Functional abnormality of the inner ear	8676	STX11	ORPHA:540
HP:0011389	Functional abnormality of the inner ear	201294	UNC13D	ORPHA:540
HP:0011389	Functional abnormality of the inner ear	2737	GLI3	ORPHA:36
HP:0011389	Functional abnormality of the inner ear	374654	KIF7	ORPHA:36
HP:0011389	Functional abnormality of the inner ear	55315	SLC29A3	OMIM:602782
HP:0011389	Functional abnormality of the inner ear	10397	NDRG1	OMIM:601455
HP:0011389	Functional abnormality of the inner ear	10397	NDRG1	ORPHA:99950
HP:0011389	Functional abnormality of the inner ear	6299	SALL1	OMIM:107480
HP:0011389	Functional abnormality of the inner ear	57104	PNPLA2	ORPHA:565612
HP:0011389	Functional abnormality of the inner ear	57104	PNPLA2	ORPHA:98908
HP:0011389	Functional abnormality of the inner ear	57104	PNPLA2	OMIM:610717
HP:0011389	Functional abnormality of the inner ear	55182	RNF220	OMIM:619688
HP:0011389	Functional abnormality of the inner ear	79158	GNPTAB	ORPHA:576
HP:0011389	Functional abnormality of the inner ear	7007	TECTA	OMIM:603629
HP:0011389	Functional abnormality of the inner ear	7007	TECTA	OMIM:601543
HP:0011389	Functional abnormality of the inner ear	537	ATP6AP1	OMIM:300972
HP:0011389	Functional abnormality of the inner ear	7922	SLC39A7	OMIM:619693
HP:0011389	Functional abnormality of the inner ear	3376	IARS1	ORPHA:541423
HP:0011389	Functional abnormality of the inner ear	3376	IARS1	OMIM:617093
HP:0011389	Functional abnormality of the inner ear	5077	PAX3	OMIM:148820
HP:0011389	Functional abnormality of the inner ear	5077	PAX3	OMIM:122880
HP:0011389	Functional abnormality of the inner ear	5077	PAX3	ORPHA:1529
HP:0011389	Functional abnormality of the inner ear	4627	MYH9	OMIM:155100
HP:0011389	Functional abnormality of the inner ear	4627	MYH9	ORPHA:182050
HP:0011389	Functional abnormality of the inner ear	11342	RNF13	OMIM:618379
HP:0011389	Functional abnormality of the inner ear	11342	RNF13	ORPHA:544503
HP:0011389	Functional abnormality of the inner ear	8802	SUCLG1	ORPHA:17
HP:0011389	Functional abnormality of the inner ear	9294	S1PR2	OMIM:610419
HP:0011389	Functional abnormality of the inner ear	4613	MYCN	ORPHA:391641
HP:0011389	Functional abnormality of the inner ear	57187	THOC2	OMIM:300957
HP:0011389	Functional abnormality of the inner ear	84196	USP48	OMIM:620227
HP:0011389	Functional abnormality of the inner ear	5781	PTPN11	ORPHA:500
HP:0011389	Functional abnormality of the inner ear	5781	PTPN11	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	5781	PTPN11	OMIM:151100
HP:0011389	Functional abnormality of the inner ear	5781	PTPN11	OMIM:163950
HP:0011389	Functional abnormality of the inner ear	25839	COG4	OMIM:618150
HP:0011389	Functional abnormality of the inner ear	493856	CISD2	OMIM:604928
HP:0011389	Functional abnormality of the inner ear	493856	CISD2	ORPHA:3463
HP:0011389	Functional abnormality of the inner ear	374879	ZNF699	OMIM:619488
HP:0011389	Functional abnormality of the inner ear	8318	CDC45	OMIM:617063
HP:0011389	Functional abnormality of the inner ear	9373	PLAA	ORPHA:521426
HP:0011389	Functional abnormality of the inner ear	100127206	MINAR2	OMIM:620238
HP:0011389	Functional abnormality of the inner ear	91662	NLRP12	OMIM:611762
HP:0011389	Functional abnormality of the inner ear	55717	WDR11	OMIM:620237
HP:0011389	Functional abnormality of the inner ear	55717	WDR11	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	93587	TRMT10A	ORPHA:391408
HP:0011389	Functional abnormality of the inner ear	84919	PPP1R15B	ORPHA:391408
HP:0011389	Functional abnormality of the inner ear	84919	PPP1R15B	OMIM:616817
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	OMIM:609136
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	ORPHA:163746
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	OMIM:613266
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	6663	SOX10	OMIM:611584
HP:0011389	Functional abnormality of the inner ear	7169	TPM2	OMIM:108120
HP:0011389	Functional abnormality of the inner ear	55670	PEX26	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	55670	PEX26	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	55670	PEX26	OMIM:614873
HP:0011389	Functional abnormality of the inner ear	55670	PEX26	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5824	PEX19	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5824	PEX19	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5824	PEX19	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5828	PEX2	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5828	PEX2	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5828	PEX2	OMIM:614866
HP:0011389	Functional abnormality of the inner ear	5828	PEX2	OMIM:614867
HP:0011389	Functional abnormality of the inner ear	5828	PEX2	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	8504	PEX3	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	8504	PEX3	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	8504	PEX3	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	9409	PEX16	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	9409	PEX16	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	9409	PEX16	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	ORPHA:3220
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	OMIM:614863
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5190	PEX6	OMIM:616617
HP:0011389	Functional abnormality of the inner ear	8799	PEX11B	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	8799	PEX11B	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	8799	PEX11B	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5830	PEX5	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5830	PEX5	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5830	PEX5	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	ORPHA:3220
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	OMIM:214100
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	OMIM:234580
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	OMIM:601539
HP:0011389	Functional abnormality of the inner ear	5189	PEX1	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5193	PEX12	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5193	PEX12	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5193	PEX12	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5193	PEX12	OMIM:266510
HP:0011389	Functional abnormality of the inner ear	5194	PEX13	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5194	PEX13	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5194	PEX13	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5195	PEX14	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5195	PEX14	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5195	PEX14	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5192	PEX10	ORPHA:772
HP:0011389	Functional abnormality of the inner ear	5192	PEX10	ORPHA:44
HP:0011389	Functional abnormality of the inner ear	5192	PEX10	OMIM:614871
HP:0011389	Functional abnormality of the inner ear	5192	PEX10	ORPHA:912
HP:0011389	Functional abnormality of the inner ear	5264	PHYH	ORPHA:773
HP:0011389	Functional abnormality of the inner ear	5264	PHYH	OMIM:266500
HP:0011389	Functional abnormality of the inner ear	5295	PIK3R1	ORPHA:3163
HP:0011389	Functional abnormality of the inner ear	5295	PIK3R1	OMIM:269880
HP:0011389	Functional abnormality of the inner ear	81624	DIAPH3	OMIM:609129
HP:0011389	Functional abnormality of the inner ear	2629	GBA1	ORPHA:2072
HP:0011389	Functional abnormality of the inner ear	26276	VPS33B	OMIM:620009
HP:0011389	Functional abnormality of the inner ear	54936	ADPRS	OMIM:618170
HP:0011389	Functional abnormality of the inner ear	4860	PNP	ORPHA:760
HP:0011389	Functional abnormality of the inner ear	64802	NMNAT1	OMIM:619260
HP:0011389	Functional abnormality of the inner ear	50964	SOST	ORPHA:3152
HP:0011389	Functional abnormality of the inner ear	50964	SOST	ORPHA:3416
HP:0011389	Functional abnormality of the inner ear	375056	MIA3	OMIM:619269
HP:0011389	Functional abnormality of the inner ear	8022	LHX3	ORPHA:231720
HP:0011389	Functional abnormality of the inner ear	8022	LHX3	ORPHA:226307
HP:0011389	Functional abnormality of the inner ear	8022	LHX3	OMIM:221750
HP:0011389	Functional abnormality of the inner ear	51473	DCDC2	OMIM:610212
HP:0011389	Functional abnormality of the inner ear	128674	PROKR2	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	128674	PROKR2	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	6658	SOX3	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	9915	ARNT2	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	8820	HESX1	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	8820	HESX1	ORPHA:226307
HP:0011389	Functional abnormality of the inner ear	8820	HESX1	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	5015	OTX2	ORPHA:3157
HP:0011389	Functional abnormality of the inner ear	7355	SLC35A2	ORPHA:356961
HP:0011389	Functional abnormality of the inner ear	283310	OTOGL	OMIM:614944
HP:0011389	Functional abnormality of the inner ear	340990	OTOG	OMIM:614945
HP:0011389	Functional abnormality of the inner ear	79581	SLC52A2	OMIM:614707
HP:0011389	Functional abnormality of the inner ear	9241	NOG	ORPHA:3250
HP:0011389	Functional abnormality of the inner ear	9241	NOG	OMIM:611377
HP:0011389	Functional abnormality of the inner ear	8200	GDF5	ORPHA:3250
HP:0011389	Functional abnormality of the inner ear	146183	OTOA	OMIM:607039
HP:0011389	Functional abnormality of the inner ear	613	BCR	ORPHA:261330
HP:0011389	Functional abnormality of the inner ear	1399	CRKL	ORPHA:261330
HP:0011389	Functional abnormality of the inner ear	5594	MAPK1	ORPHA:261330
HP:0011389	Functional abnormality of the inner ear	63916	ELMO2	ORPHA:3019
HP:0011389	Functional abnormality of the inner ear	1717	DHCR7	ORPHA:818
HP:0011389	Functional abnormality of the inner ear	375611	SLC26A5	OMIM:613865
HP:0011389	Functional abnormality of the inner ear	4758	NEU1	ORPHA:812
HP:0011389	Functional abnormality of the inner ear	4758	NEU1	OMIM:256550
HP:0011389	Functional abnormality of the inner ear	429	ASCL1	ORPHA:99803
HP:0011389	Functional abnormality of the inner ear	8929	PHOX2B	ORPHA:99803
HP:0011389	Functional abnormality of the inner ear	29072	SETD2	OMIM:620155
HP:0011389	Functional abnormality of the inner ear	525	ATP6V1B1	OMIM:267300
HP:0011389	Functional abnormality of the inner ear	6197	RPS6KA3	OMIM:303600
HP:0011389	Functional abnormality of the inner ear	6197	RPS6KA3	ORPHA:192
HP:0011389	Functional abnormality of the inner ear	2483	FRG1	OMIM:158900
HP:0011389	Functional abnormality of the inner ear	2483	FRG1	ORPHA:269
HP:0011389	Functional abnormality of the inner ear	92579	G6PC3	OMIM:612541
HP:0011389	Functional abnormality of the inner ear	29967	LRP12	OMIM:164310
HP:0011389	Functional abnormality of the inner ear	546	ATRX	ORPHA:847
HP:0011389	Functional abnormality of the inner ear	546	ATRX	OMIM:309580
HP:0011389	Functional abnormality of the inner ear	546	ATRX	OMIM:301040
HP:0011389	Functional abnormality of the inner ear	54675	CRLS1	OMIM:620167
HP:0011389	Functional abnormality of the inner ear	57531	HACE1	ORPHA:464282
HP:0011389	Functional abnormality of the inner ear	57531	HACE1	OMIM:616756
HP:0011389	Functional abnormality of the inner ear	9839	ZEB2	ORPHA:261552
HP:0011389	Functional abnormality of the inner ear	9839	ZEB2	ORPHA:261537
HP:0011389	Functional abnormality of the inner ear	7156	TOP3A	OMIM:618098
HP:0011389	Functional abnormality of the inner ear	6999	TDO2	OMIM:600627
HP:0011389	Functional abnormality of the inner ear	10682	EBP	ORPHA:35173
HP:0011389	Functional abnormality of the inner ear	1954	MEGF8	OMIM:614976
HP:0011389	Functional abnormality of the inner ear	1729	DIAPH1	OMIM:124900
HP:0011389	Functional abnormality of the inner ear	84300	UQCC2	OMIM:615824
HP:0011389	Functional abnormality of the inner ear	4036	LRP2	ORPHA:2143
HP:0011389	Functional abnormality of the inner ear	4036	LRP2	OMIM:222448
HP:0011389	Functional abnormality of the inner ear	25942	SIN3A	OMIM:613406
HP:0011389	Functional abnormality of the inner ear	3756	KCNH1	ORPHA:3473
HP:0011389	Functional abnormality of the inner ear	3782	KCNN3	ORPHA:3473
HP:0011389	Functional abnormality of the inner ear	53834	FGFRL1	OMIM:194190
HP:0011389	Functional abnormality of the inner ear	1487	CTBP1	OMIM:194190
HP:0011389	Functional abnormality of the inner ear	7468	NSD2	OMIM:194190
HP:0011389	Functional abnormality of the inner ear	10815	CPLX1	OMIM:194190
HP:0011389	Functional abnormality of the inner ear	84947	SERAC1	OMIM:614739
HP:0011389	Functional abnormality of the inner ear	54496	PRMT7	ORPHA:464288
HP:0011389	Functional abnormality of the inner ear	113278	SLC52A3	OMIM:211530
HP:0011389	Functional abnormality of the inner ear	9653	HS2ST1	OMIM:619194
HP:0011389	Functional abnormality of the inner ear	5626	PROP1	ORPHA:226307
HP:0011389	Functional abnormality of the inner ear	89884	LHX4	ORPHA:226307
HP:0011389	Functional abnormality of the inner ear	5449	POU1F1	ORPHA:226307
HP:0011389	Functional abnormality of the inner ear	10908	PNPLA6	ORPHA:2377
HP:0011389	Functional abnormality of the inner ear	3211	HOXB1	OMIM:614744
HP:0011389	Functional abnormality of the inner ear	2122	MECOM	ORPHA:71289
HP:0011389	Functional abnormality of the inner ear	2122	MECOM	OMIM:616738
HP:0011389	Functional abnormality of the inner ear	3207	HOXA11	ORPHA:71289
HP:0011389	Functional abnormality of the inner ear	3207	HOXA11	OMIM:605432
HP:0011389	Functional abnormality of the inner ear	90665	TBL1Y	OMIM:400047
HP:0011389	Functional abnormality of the inner ear	4094	MAF	ORPHA:1272
HP:0011389	Functional abnormality of the inner ear	4094	MAF	OMIM:601088
HP:0011389	Functional abnormality of the inner ear	440138	ALG11	OMIM:613661
HP:0011389	Functional abnormality of the inner ear	2103	ESRRB	OMIM:608565
HP:0011389	Functional abnormality of the inner ear	695	BTK	ORPHA:47
HP:0011389	Functional abnormality of the inner ear	427	ASAH1	ORPHA:2590
HP:0011389	Functional abnormality of the inner ear	286676	ILDR1	OMIM:609646
HP:0011389	Functional abnormality of the inner ear	51322	WAC	OMIM:616708
HP:0011389	Functional abnormality of the inner ear	9455	HOMER2	OMIM:616707
HP:0011389	Functional abnormality of the inner ear	4233	MET	OMIM:616705
HP:0011389	Functional abnormality of the inner ear	4556	MT-TE	ORPHA:2596
HP:0011389	Functional abnormality of the inner ear	4556	MT-TE	ORPHA:225
HP:0011389	Functional abnormality of the inner ear	147372	CCBE1	OMIM:235510
HP:0011389	Functional abnormality of the inner ear	84188	FAR1	ORPHA:447753
HP:0011389	Functional abnormality of the inner ear	5832	ALDH18A1	ORPHA:447753
HP:0011389	Functional abnormality of the inner ear	57165	GJC2	OMIM:613206
HP:0011389	Functional abnormality of the inner ear	57165	GJC2	ORPHA:320401
HP:0011389	Functional abnormality of the inner ear	57724	EPG5	ORPHA:1493
HP:0011389	Functional abnormality of the inner ear	57724	EPG5	OMIM:242840
HP:0011389	Functional abnormality of the inner ear	1287	COL4A5	ORPHA:1018
HP:0011389	Functional abnormality of the inner ear	1287	COL4A5	OMIM:301050
HP:0011389	Functional abnormality of the inner ear	91949	COG7	OMIM:608779
HP:0011389	Functional abnormality of the inner ear	124997	WDR81	OMIM:610185
HP:0011389	Functional abnormality of the inner ear	132	ADK	OMIM:614300
HP:0011389	Functional abnormality of the inner ear	79848	CSPP1	OMIM:615636
HP:0011389	Functional abnormality of the inner ear	8943	AP3D1	ORPHA:1000
HP:0011389	Functional abnormality of the inner ear	1776	DNASE1L3	ORPHA:36412
HP:0011389	Functional abnormality of the inner ear	4010	LMX1B	OMIM:161200
HP:0011389	Functional abnormality of the inner ear	7317	UBA1	OMIM:301054
HP:0011389	Functional abnormality of the inner ear	54931	TRMT10C	OMIM:616974
HP:0011389	Functional abnormality of the inner ear	4041	LRP5	ORPHA:3416
HP:0011389	Functional abnormality of the inner ear	4041	LRP5	ORPHA:2790
HP:0011389	Functional abnormality of the inner ear	4041	LRP5	OMIM:144750
HP:0011389	Functional abnormality of the inner ear	2782	GNB1	OMIM:616973
HP:0011389	Functional abnormality of the inner ear	4893	NRAS	OMIM:613224
HP:0011389	Functional abnormality of the inner ear	4893	NRAS	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	4363	ABCC1	OMIM:618915
HP:0011389	Functional abnormality of the inner ear	169792	GLIS3	OMIM:610199
HP:0011389	Functional abnormality of the inner ear	7403	KDM6A	ORPHA:2322
HP:0011389	Functional abnormality of the inner ear	998	CDC42	OMIM:616737
HP:0011389	Functional abnormality of the inner ear	10413	YAP1	ORPHA:1473
HP:0011389	Functional abnormality of the inner ear	50	ACO2	OMIM:614559
HP:0011389	Functional abnormality of the inner ear	2239	GPC4	OMIM:301026
HP:0011389	Functional abnormality of the inner ear	2239	GPC4	ORPHA:2662
HP:0011389	Functional abnormality of the inner ear	27235	COQ2	OMIM:607426
HP:0011389	Functional abnormality of the inner ear	10560	SLC19A2	OMIM:249270
HP:0011389	Functional abnormality of the inner ear	10560	SLC19A2	ORPHA:49827
HP:0011389	Functional abnormality of the inner ear	2067	ERCC1	ORPHA:1466
HP:0011389	Functional abnormality of the inner ear	2073	ERCC5	ORPHA:1466
HP:0011389	Functional abnormality of the inner ear	2073	ERCC5	ORPHA:910
HP:0011389	Functional abnormality of the inner ear	60	ACTB	ORPHA:79107
HP:0011389	Functional abnormality of the inner ear	60	ACTB	OMIM:243310
HP:0011389	Functional abnormality of the inner ear	60	ACTB	OMIM:607371
HP:0011389	Functional abnormality of the inner ear	4982	TNFRSF11B	OMIM:239000
HP:0011389	Functional abnormality of the inner ear	8985	PLOD3	OMIM:612394
HP:0011389	Functional abnormality of the inner ear	4854	NOTCH3	ORPHA:2789
HP:0011389	Functional abnormality of the inner ear	80736	SLC44A4	OMIM:617606
HP:0011389	Functional abnormality of the inner ear	23476	BRD4	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	9126	SMC3	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	8243	SMC1A	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	8243	SMC1A	ORPHA:220386
HP:0011389	Functional abnormality of the inner ear	55869	HDAC8	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	5885	RAD21	ORPHA:199
HP:0011389	Functional abnormality of the inner ear	157680	VPS13B	ORPHA:193
HP:0011389	Functional abnormality of the inner ear	1213	CLTC	OMIM:617854
HP:0011389	Functional abnormality of the inner ear	51520	LARS1	OMIM:615438
HP:0011389	Functional abnormality of the inner ear	1890	TYMP	OMIM:603041
HP:0011389	Functional abnormality of the inner ear	1890	TYMP	ORPHA:298
HP:0011389	Functional abnormality of the inner ear	3425	IDUA	ORPHA:93474
HP:0011389	Functional abnormality of the inner ear	3425	IDUA	ORPHA:93476
HP:0011389	Functional abnormality of the inner ear	6134	RPL10	ORPHA:435938
HP:0011389	Functional abnormality of the inner ear	6134	RPL10	ORPHA:459070
HP:0011389	Functional abnormality of the inner ear	60528	ELAC2	OMIM:615440
HP:0011389	Functional abnormality of the inner ear	28957	MRPS28	OMIM:618958
HP:0011389	Functional abnormality of the inner ear	60482	SLC5A7	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	4649	MYO9A	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	1305	COL13A1	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	1103	CHAT	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	6576	SLC25A1	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	6843	VAMP1	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	375790	AGRN	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	127833	SYT2	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	6572	SLC18A3	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	6616	SNAP25	ORPHA:98914
HP:0011389	Functional abnormality of the inner ear	652	BMP4	ORPHA:139471
HP:0011389	Functional abnormality of the inner ear	7518	XRCC4	OMIM:616541
HP:0011389	Functional abnormality of the inner ear	4724	NDUFS4	OMIM:252010
HP:0011389	Functional abnormality of the inner ear	4724	NDUFS4	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	8192	CLPP	OMIM:614129
HP:0011389	Functional abnormality of the inner ear	5879	RAC1	ORPHA:500159
HP:0011389	Functional abnormality of the inner ear	5879	RAC1	OMIM:617751
HP:0011389	Functional abnormality of the inner ear	23250	ATP11A	OMIM:619810
HP:0011389	Functional abnormality of the inner ear	8777	MPDZ	OMIM:615219
HP:0011389	Functional abnormality of the inner ear	10383	TUBB4B	OMIM:617879
HP:0011389	Functional abnormality of the inner ear	1285	COL4A3	OMIM:104200
HP:0011389	Functional abnormality of the inner ear	5286	PIK3C2A	ORPHA:557003
HP:0011389	Functional abnormality of the inner ear	64221	ROBO3	ORPHA:2744
HP:0011389	Functional abnormality of the inner ear	1630	DCC	ORPHA:2744
HP:0011389	Functional abnormality of the inner ear	1630	DCC	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	8626	TP63	ORPHA:1896
HP:0011389	Functional abnormality of the inner ear	8626	TP63	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	16	AARS1	OMIM:613287
HP:0011389	Functional abnormality of the inner ear	1297	COL9A1	OMIM:614134
HP:0011389	Functional abnormality of the inner ear	1297	COL9A1	ORPHA:250984
HP:0011389	Functional abnormality of the inner ear	8449	DHX16	OMIM:618733
HP:0011389	Functional abnormality of the inner ear	4014	LORICRIN	ORPHA:79395
HP:0011389	Functional abnormality of the inner ear	9381	OTOF	OMIM:601071
HP:0011389	Functional abnormality of the inner ear	64699	TMPRSS3	OMIM:601072
HP:0011389	Functional abnormality of the inner ear	54539	NDUFB11	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	25915	NDUFAF3	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	51103	NDUFAF1	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	91942	NDUFAF2	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	51300	TIMMDC1	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	51300	TIMMDC1	OMIM:618251
HP:0011389	Functional abnormality of the inner ear	4716	NDUFB10	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4723	NDUFV1	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	55572	FOXRED1	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	284184	NDUFAF8	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	55863	TMEM126B	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4537	MT-ND3	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4537	MT-ND3	ORPHA:255210
HP:0011389	Functional abnormality of the inner ear	4729	NDUFV2	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4720	NDUFS2	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4726	NDUFS6	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4728	NDUFS8	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4722	NDUFS3	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	79133	NDUFAF5	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	126328	NDUFA11	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4709	NDUFB3	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	80224	NUBPL	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	29078	NDUFAF4	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	374291	NDUFS7	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4700	NDUFA6	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4536	MT-ND2	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4536	MT-ND2	ORPHA:255210
HP:0011389	Functional abnormality of the inner ear	4719	NDUFS1	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	4715	NDUFB9	ORPHA:2609
HP:0011389	Functional abnormality of the inner ear	29925	GMPPB	OMIM:615350
HP:0011389	Functional abnormality of the inner ear	6834	SURF1	OMIM:616684
HP:0011389	Functional abnormality of the inner ear	6834	SURF1	OMIM:220110
HP:0011389	Functional abnormality of the inner ear	1947	EFNB1	ORPHA:1520
HP:0011389	Functional abnormality of the inner ear	4693	NDP	OMIM:310600
HP:0011389	Functional abnormality of the inner ear	4693	NDP	ORPHA:649
HP:0011389	Functional abnormality of the inner ear	22947	DUX4L1	ORPHA:269
HP:0011389	Functional abnormality of the inner ear	1789	DNMT3B	ORPHA:269
HP:0011389	Functional abnormality of the inner ear	23347	SMCHD1	ORPHA:269
HP:0011389	Functional abnormality of the inner ear	100288687	DUX4	ORPHA:269
HP:0011389	Functional abnormality of the inner ear	4508	MT-ATP6	ORPHA:255210
HP:0011389	Functional abnormality of the inner ear	267010	RNU12	OMIM:603116
HP:0011389	Functional abnormality of the inner ear	23562	CLDN14	OMIM:614035
HP:0011389	Functional abnormality of the inner ear	4254	KITLG	OMIM:616697
HP:0011389	Functional abnormality of the inner ear	4254	KITLG	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	4254	KITLG	OMIM:619947
HP:0011389	Functional abnormality of the inner ear	128486	FITM2	OMIM:618635
HP:0011389	Functional abnormality of the inner ear	3980	LIG3	ORPHA:298
HP:0011389	Functional abnormality of the inner ear	80153	EDC3	OMIM:616460
HP:0011389	Functional abnormality of the inner ear	1600	DAB1	ORPHA:363710
HP:0011389	Functional abnormality of the inner ear	55870	ASH1L	OMIM:617796
HP:0011389	Functional abnormality of the inner ear	1298	COL9A2	OMIM:614284
HP:0011389	Functional abnormality of the inner ear	1298	COL9A2	ORPHA:250984
HP:0011389	Functional abnormality of the inner ear	9692	PRORP	OMIM:619737
HP:0011389	Functional abnormality of the inner ear	2200	FBN1	ORPHA:2833
HP:0011389	Functional abnormality of the inner ear	23761	PISD	OMIM:618889
HP:0011389	Functional abnormality of the inner ear	83480	PUS3	ORPHA:488627
HP:0011389	Functional abnormality of the inner ear	7020	TFAP2A	OMIM:113620
HP:0011389	Functional abnormality of the inner ear	22884	WDR37	OMIM:618652
HP:0011389	Functional abnormality of the inner ear	5424	POLD1	OMIM:615381
HP:0011389	Functional abnormality of the inner ear	26284	ERAL1	OMIM:617565
HP:0011389	Functional abnormality of the inner ear	55012	PPP2R3C	OMIM:618419
HP:0011389	Functional abnormality of the inner ear	93627	TBCK	ORPHA:488632
HP:0011389	Functional abnormality of the inner ear	8642	DCHS1	OMIM:601390
HP:0011389	Functional abnormality of the inner ear	2296	FOXC1	OMIM:602482
HP:0011389	Functional abnormality of the inner ear	57167	SALL4	ORPHA:233
HP:0011389	Functional abnormality of the inner ear	57167	SALL4	ORPHA:959
HP:0011389	Functional abnormality of the inner ear	57167	SALL4	OMIM:607323
HP:0011389	Functional abnormality of the inner ear	9935	MAFB	ORPHA:233
HP:0011389	Functional abnormality of the inner ear	1123	CHN1	ORPHA:233
HP:0011389	Functional abnormality of the inner ear	1182	CLCN3	OMIM:619512
HP:0011389	Functional abnormality of the inner ear	85301	COL27A1	OMIM:615155
HP:0011389	Functional abnormality of the inner ear	8879	SGPL1	OMIM:617575
HP:0011389	Functional abnormality of the inner ear	9453	GGPS1	OMIM:619518
HP:0011389	Functional abnormality of the inner ear	59335	PRDM12	OMIM:616488
HP:0011389	Functional abnormality of the inner ear	9786	KIAA0586	OMIM:616490
HP:0011389	Functional abnormality of the inner ear	4286	MITF	OMIM:193510
HP:0011389	Functional abnormality of the inner ear	4286	MITF	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	4849	CNOT3	OMIM:618672
HP:0011389	Functional abnormality of the inner ear	9158	FIBP	OMIM:617107
HP:0011389	Functional abnormality of the inner ear	9158	FIBP	ORPHA:500095
HP:0011389	Functional abnormality of the inner ear	57492	ARID1B	ORPHA:251056
HP:0011389	Functional abnormality of the inner ear	7841	MOGS	ORPHA:79330
HP:0011389	Functional abnormality of the inner ear	7841	MOGS	OMIM:606056
HP:0011389	Functional abnormality of the inner ear	11107	PRDM5	ORPHA:90354
HP:0011389	Functional abnormality of the inner ear	84627	ZNF469	ORPHA:90354
HP:0011389	Functional abnormality of the inner ear	51651	PTRH2	OMIM:616263
HP:0011389	Functional abnormality of the inner ear	51651	PTRH2	ORPHA:456312
HP:0011389	Functional abnormality of the inner ear	85365	ALG2	OMIM:607906
HP:0011389	Functional abnormality of the inner ear	79977	GRHL2	OMIM:616029
HP:0011389	Functional abnormality of the inner ear	79977	GRHL2	OMIM:608641
HP:0011389	Functional abnormality of the inner ear	79087	ALG12	ORPHA:79324
HP:0011389	Functional abnormality of the inner ear	79087	ALG12	OMIM:607143
HP:0011389	Functional abnormality of the inner ear	9896	FIG4	OMIM:216340
HP:0011389	Functional abnormality of the inner ear	1749	DLX5	OMIM:220600
HP:0011389	Functional abnormality of the inner ear	1749	DLX5	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	10750	GRAP	OMIM:618456
HP:0011389	Functional abnormality of the inner ear	124976	SPNS2	OMIM:618457
HP:0011389	Functional abnormality of the inner ear	8905	AP1S2	OMIM:304340
HP:0011389	Functional abnormality of the inner ear	8803	SUCLA2	ORPHA:1933
HP:0011389	Functional abnormality of the inner ear	8803	SUCLA2	OMIM:612073
HP:0011389	Functional abnormality of the inner ear	10371	SEMA3A	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	81848	SPRY4	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	23767	FLRT3	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	79625	NDNF	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	389549	FEZF1	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	3730	ANOS1	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	54756	IL17RD	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	285025	CCDC141	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	60675	PROK2	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	1848	DUSP6	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	6870	TACR3	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	9394	HS6ST1	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	8822	FGF17	ORPHA:478
HP:0011389	Functional abnormality of the inner ear	10456	HAX1	OMIM:610738
HP:0011389	Functional abnormality of the inner ear	10466	COG5	ORPHA:263487
HP:0011389	Functional abnormality of the inner ear	54892	NCAPG2	OMIM:618460
HP:0011389	Functional abnormality of the inner ear	6548	SLC9A1	OMIM:616291
HP:0011389	Functional abnormality of the inner ear	1387	CREBBP	ORPHA:353281
HP:0011389	Functional abnormality of the inner ear	1387	CREBBP	ORPHA:353277
HP:0011389	Functional abnormality of the inner ear	29998	BICRA	OMIM:619325
HP:0011389	Functional abnormality of the inner ear	9342	SNAP29	ORPHA:66631
HP:0011389	Functional abnormality of the inner ear	9342	SNAP29	OMIM:609528
HP:0011389	Functional abnormality of the inner ear	2033	EP300	ORPHA:353284
HP:0011389	Functional abnormality of the inner ear	51360	MBTPS2	ORPHA:659
HP:0011389	Functional abnormality of the inner ear	162514	TRPV3	ORPHA:659
HP:0011389	Functional abnormality of the inner ear	64065	PERP	ORPHA:659
HP:0011389	Functional abnormality of the inner ear	977	CD151	OMIM:609057
HP:0011389	Functional abnormality of the inner ear	79068	FTO	OMIM:612938
HP:0011389	Functional abnormality of the inner ear	10059	DNM1L	ORPHA:98673
HP:0011389	Functional abnormality of the inner ear	57551	TAOK1	OMIM:619575
HP:0011389	Functional abnormality of the inner ear	291	SLC25A4	OMIM:609283
HP:0011389	Functional abnormality of the inner ear	2070	EYA4	OMIM:601316
HP:0011389	Functional abnormality of the inner ear	2070	EYA4	OMIM:605362
HP:0011389	Functional abnormality of the inner ear	55814	BDP1	OMIM:618257
HP:0011389	Functional abnormality of the inner ear	2705	GJB1	OMIM:302800
HP:0011389	Functional abnormality of the inner ear	8635	RNASET2	OMIM:612951
HP:0011389	Functional abnormality of the inner ear	9791	PTDSS1	OMIM:151050
HP:0011389	Functional abnormality of the inner ear	51095	TRNT1	OMIM:616084
HP:0011389	Functional abnormality of the inner ear	4629	MYH11	OMIM:619351
HP:0011389	Functional abnormality of the inner ear	29926	GMPPA	ORPHA:869
HP:0011389	Functional abnormality of the inner ear	60684	TRAPPC11	ORPHA:869
HP:0011389	Functional abnormality of the inner ear	8086	AAAS	ORPHA:869
HP:0011389	Functional abnormality of the inner ear	3198	HOXA1	OMIM:601536
HP:0011389	Functional abnormality of the inner ear	51715	RAB23	OMIM:201000
HP:0011389	Functional abnormality of the inner ear	4222	MEOX1	OMIM:214300
HP:0011389	Functional abnormality of the inner ear	9759	HDAC4	OMIM:600430
HP:0011389	Functional abnormality of the inner ear	7299	TYR	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	6591	SNAI2	ORPHA:895
HP:0011389	Functional abnormality of the inner ear	22800	RRAS2	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	867	CBL	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	8216	LZTR1	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	6016	RIT1	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	6237	RRAS	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	3845	KRAS	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	200734	SPRED2	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	6654	SOS1	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	6655	SOS2	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	5922	RASA2	ORPHA:648
HP:0011389	Functional abnormality of the inner ear	23438	HARS2	OMIM:614926
HP:0011389	Functional abnormality of the inner ear	84233	TMEM126A	OMIM:612989
HP:0011389	Functional abnormality of the inner ear	5076	PAX2	OMIM:120330
HP:0011389	Functional abnormality of the inner ear	8665	EIF3F	OMIM:618295
HP:0011389	Functional abnormality of the inner ear	27183	VPS4A	OMIM:619273
HP:0011389	Functional abnormality of the inner ear	84189	SLITRK6	OMIM:221200
HP:0011389	Functional abnormality of the inner ear	10134	BCAP31	OMIM:300475
HP:0011389	Functional abnormality of the inner ear	146227	BEAN1	OMIM:117210
HP:0011389	Functional abnormality of the inner ear	4570	MT-TN	OMIM:220110
HP:0011389	Functional abnormality of the inner ear	59341	TRPV4	OMIM:606071
HP:0011389	Functional abnormality of the inner ear	494513	PJVK	OMIM:610220
HP:0011389	Functional abnormality of the inner ear	95	ACY1	ORPHA:137754
HP:0011389	Functional abnormality of the inner ear	95	ACY1	OMIM:609924
HP:0011389	Functional abnormality of the inner ear	10992	SF3B2	OMIM:164210
HP:0011389	Functional abnormality of the inner ear	5111	PCNA	OMIM:615919
HP:0011389	Functional abnormality of the inner ear	1299	COL9A3	OMIM:620022
HP:0011389	Functional abnormality of the inner ear	1299	COL9A3	ORPHA:250984
HP:0011389	Functional abnormality of the inner ear	162	AP1B1	OMIM:242150
HP:0011389	Functional abnormality of the inner ear	1352	COX10	OMIM:619046
HP:0011389	Functional abnormality of the inner ear	686	BTD	OMIM:253260
HP:0011389	Functional abnormality of the inner ear	686	BTD	ORPHA:79241
HP:0011389	Functional abnormality of the inner ear	7080	NKX2-1	ORPHA:209905
HP:0011389	Functional abnormality of the inner ear	7276	TTR	OMIM:105210
HP:0011389	Functional abnormality of the inner ear	132158	GLYCTK	OMIM:220120
HP:0011389	Functional abnormality of the inner ear	26090	ABHD12	OMIM:612674
HP:0011389	Functional abnormality of the inner ear	5978	REST	OMIM:612431
HP:0011389	Functional abnormality of the inner ear	1174	AP1S1	OMIM:609313
HP:0011389	Functional abnormality of the inner ear	4953	ODC1	OMIM:619075
HP:0011389	Functional abnormality of the inner ear	4953	ODC1	ORPHA:544488
HP:0011389	Functional abnormality of the inner ear	5251	PHEX	ORPHA:89936
HP:0011389	Functional abnormality of the inner ear	3028	HSD17B10	OMIM:300438
HP:0011389	Functional abnormality of the inner ear	54084	TSPEAR	OMIM:614861
HP:0011389	Functional abnormality of the inner ear	6804	STX1A	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	7461	CLIP2	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	84277	DNAJC30	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	8468	FKBP6	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	5982	RFC2	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	2969	GTF2I	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	3984	LIMK1	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	9569	GTF2IRD1	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	155382	VPS37D	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	155368	METTL27	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	114049	BUD23	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	7458	EIF4H	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	84163	GTF2IRD2	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	9275	BCL7B	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	26608	TBL2	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	653361	NCF1	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	135886	TMEM270	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	51085	MLXIPL	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	51085	MLXIPL	OMIM:194050
HP:0011389	Functional abnormality of the inner ear	9031	BAZ1B	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	2006	ELN	ORPHA:904
HP:0011389	Functional abnormality of the inner ear	2006	ELN	OMIM:194050
HP:0011389	Functional abnormality of the inner ear	1493	CTLA4	ORPHA:900
HP:0011389	Functional abnormality of the inner ear	3115	HLA-DPB1	ORPHA:900
HP:0011389	Functional abnormality of the inner ear	5657	PRTN3	ORPHA:900
HP:0011389	Functional abnormality of the inner ear	3113	HLA-DPA1	ORPHA:900
HP:0011389	Functional abnormality of the inner ear	5159	PDGFRB	OMIM:601812
HP:0011389	Functional abnormality of the inner ear	5591	PRKDC	OMIM:615966
HP:0011389	Functional abnormality of the inner ear	10430	TMEM147	OMIM:620075
HP:0011389	Functional abnormality of the inner ear	9080	CLDN9	OMIM:619093
HP:0011389	Functional abnormality of the inner ear	9939	RBM8A	ORPHA:3320
HP:0011389	Functional abnormality of the inner ear	50945	TBX22	ORPHA:921
HP:0011389	Functional abnormality of the inner ear	92154	MTSS2	OMIM:620086
HP:0011389	Functional abnormality of the inner ear	51004	COQ6	OMIM:614650
HP:0011389	Functional abnormality of the inner ear	2702	GJA5	OMIM:612474
HP:0011389	Functional abnormality of the inner ear	2703	GJA8	OMIM:612474
HP:0011389	Functional abnormality of the inner ear	170302	ARX	OMIM:300419
HP:0011389	Functional abnormality of the inner ear	84695	LOXL3	ORPHA:250984
HP:0011389	Functional abnormality of the inner ear	79628	SH3TC2	ORPHA:99949
HP:0011389	Functional abnormality of the inner ear	9927	MFN2	ORPHA:99947
HP:0011389	Functional abnormality of the inner ear	7507	XPA	ORPHA:910
HP:0011389	Functional abnormality of the inner ear	7507	XPA	OMIM:278700
HP:0011389	Functional abnormality of the inner ear	7508	XPC	ORPHA:910
HP:0011389	Functional abnormality of the inner ear	1643	DDB2	ORPHA:910
HP:0011389	Functional abnormality of the inner ear	2072	ERCC4	ORPHA:910
HP:0011389	Functional abnormality of the inner ear	9420	CYP7B1	ORPHA:100986
HP:0011389	Functional abnormality of the inner ear	9420	CYP7B1	OMIM:270800
HP:0011389	Functional abnormality of the inner ear	57704	GBA2	ORPHA:352641
HP:0011389	Functional abnormality of the inner ear	7545	ZIC1	OMIM:616602
HP:0011389	Functional abnormality of the inner ear	8556	CDC14A	OMIM:608653
HP:0011389	Functional abnormality of the inner ear	6731	SRP72	OMIM:614675
HP:0011389	Functional abnormality of the inner ear	91869	RFT1	OMIM:612015
HP:0011389	Functional abnormality of the inner ear	1750	DLX6	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	7979	SEM1	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	8945	BTRC	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	58513	EPS15L1	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	6468	FBXW4	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	7480	WNT10B	ORPHA:2440
HP:0011389	Functional abnormality of the inner ear	51116	MRPS2	OMIM:617950
HP:0011389	Functional abnormality of the inner ear	10265	IRX5	OMIM:611174
HP:0011389	Functional abnormality of the inner ear	405753	DUOXA2	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	6528	SLC5A5	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	7038	TG	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	7173	TPO	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	389434	IYD	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	50506	DUOX2	ORPHA:95716
HP:0011389	Functional abnormality of the inner ear	2058	EPRS1	OMIM:617951
HP:0011389	Functional abnormality of the inner ear	27315	PGAP2	OMIM:614207
HP:0011389	Functional abnormality of the inner ear	708	C1QBP	OMIM:617713
HP:0011389	Functional abnormality of the inner ear	128989	TANGO2	ORPHA:480864
HP:0011389	Functional abnormality of the inner ear	128989	TANGO2	OMIM:616878
HP:0011389	Functional abnormality of the inner ear	23676	SMPX	OMIM:300066
HP:0011389	Functional abnormality of the inner ear	64423	INF2	OMIM:614455
HP:0011389	Functional abnormality of the inner ear	79633	FAT4	OMIM:615546
HP:0011389	Functional abnormality of the inner ear	2584	GALK1	ORPHA:79237
HP:0011389	Functional abnormality of the inner ear	84059	ADGRV1	ORPHA:231178
HP:0011389	Functional abnormality of the inner ear	3295	HSD17B4	OMIM:233400
HP:0011389	Functional abnormality of the inner ear	3035	HARS1	ORPHA:231183
HP:0011389	Functional abnormality of the inner ear	10558	SPTLC1	OMIM:162400
HP:0011389	Functional abnormality of the inner ear	2990	GUSB	OMIM:253220
HP:0011389	Functional abnormality of the inner ear	5116	PCNT	ORPHA:2637
HP:0011389	Functional abnormality of the inner ear	63929	XPNPEP3	OMIM:613159
HP:0011389	Functional abnormality of the inner ear	57731	SPTBN4	OMIM:617519
HP:0011389	Functional abnormality of the inner ear	5604	MAP2K1	OMIM:163950
HP:0011389	Functional abnormality of the inner ear	2582	GALE	OMIM:230350
HP:0011389	Functional abnormality of the inner ear	114548	NLRP3	ORPHA:575
HP:0011389	Functional abnormality of the inner ear	114548	NLRP3	OMIM:191900
HP:0011389	Functional abnormality of the inner ear	114548	NLRP3	OMIM:607115
HP:0011389	Functional abnormality of the inner ear	4694	NDUFA1	OMIM:301020
HP:0011389	Functional abnormality of the inner ear	1687	GSDME	OMIM:600994
HP:0011389	Functional abnormality of the inner ear	10205	MPZL2	OMIM:618145
HP:0011389	Functional abnormality of the inner ear	407053	MIR96	OMIM:613074
HP:0011389	Functional abnormality of the inner ear	10463	SLC30A9	OMIM:617595
HP:0011389	Functional abnormality of the inner ear	2625	GATA3	ORPHA:2237
HP:0011389	Functional abnormality of the inner ear	53904	MYO3A	OMIM:607101
HP:0011389	Functional abnormality of the inner ear	2671	GFER	ORPHA:330054
HP:0011389	Functional abnormality of the inner ear	4359	MPZ	OMIM:607736
HP:0011389	Functional abnormality of the inner ear	478	ATP1A3	OMIM:601338
HP:0011389	Functional abnormality of the inner ear	163183	SYNE4	OMIM:615540
HP:0011389	Functional abnormality of the inner ear	23395	LARS2	OMIM:615300
HP:0011389	Functional abnormality of the inner ear	286262	TPRN	OMIM:613307
HP:0011389	Functional abnormality of the inner ear	4976	OPA1	OMIM:125250
HP:0011389	Functional abnormality of the inner ear	22953	P2RX2	OMIM:608224
HP:0011389	Functional abnormality of the inner ear	10755	GIPC1	ORPHA:98897
HP:0011389	Functional abnormality of the inner ear	100996717	NOTCH2NLC	ORPHA:98897
HP:0011389	Functional abnormality of the inner ear	3476	IGBP1	OMIM:300472
HP:0011389	Functional abnormality of the inner ear	9949	AMMECR1	OMIM:300990
HP:0011389	Functional abnormality of the inner ear	64840	PORCN	OMIM:305600
HP:0011389	Functional abnormality of the inner ear	126792	B3GALT6	ORPHA:536467
HP:0011389	Functional abnormality of the inner ear	392255	GDF6	OMIM:118100
HP:0011389	Functional abnormality of the inner ear	2138	EYA1	OMIM:113650
HP:0011389	Functional abnormality of the inner ear	2138	EYA1	OMIM:602588
HP:0011389	Functional abnormality of the inner ear	2138	EYA1	OMIM:166780
HP:0011389	Functional abnormality of the inner ear	6495	SIX1	OMIM:113650
HP:0011389	Functional abnormality of the inner ear	5167	ENPP1	ORPHA:51608
HP:0011389	Functional abnormality of the inner ear	368	ABCC6	ORPHA:51608
HP:0011389	Functional abnormality of the inner ear	56172	ANKH	OMIM:123000
HP:0011389	Functional abnormality of the inner ear	2263	FGFR2	OMIM:149730
HP:0011389	Functional abnormality of the inner ear	2263	FGFR2	ORPHA:2363
HP:0011389	Functional abnormality of the inner ear	2316	FLNA	ORPHA:1826
HP:0011389	Functional abnormality of the inner ear	6885	MAP3K7	ORPHA:1826
HP:0011389	Functional abnormality of the inner ear	2317	FLNB	OMIM:272460
HP:0011389	Functional abnormality of the inner ear	166929	SGMS2	OMIM:126550
HP:0011389	Functional abnormality of the inner ear	8085	KMT2D	OMIM:620186
HP:0011389	Functional abnormality of the inner ear	415	ARSL	ORPHA:79345
HP:0011389	Functional abnormality of the inner ear	5456	POU3F4	OMIM:304400
HP:0011389	Functional abnormality of the inner ear	2697	GJA1	OMIM:218400
HP:0011389	Functional abnormality of the inner ear	1302	COL11A2	OMIM:215150
HP:0011389	Functional abnormality of the inner ear	4125	MAN2B1	ORPHA:309282
HP:0011389	Functional abnormality of the inner ear	4125	MAN2B1	ORPHA:309288
HP:0011389	Functional abnormality of the inner ear	27125	AFF4	ORPHA:444077
HP:0011389	Functional abnormality of the inner ear	9401	RECQL4	OMIM:218600
HP:0011389	Functional abnormality of the inner ear	3199	HOXA2	OMIM:612290
HP:0011389	Functional abnormality of the inner ear	55755	CDK5RAP2	OMIM:604804
HP:0011389	Functional abnormality of the inner ear	1855	DVL1	OMIM:616331
HP:0011389	Functional abnormality of the inner ear	5075	PAX1	OMIM:615560
HP:0011389	Functional abnormality of the inner ear	1009	CDH11	ORPHA:1299
HP:0011389	Functional abnormality of the inner ear	55636	CHD7	OMIM:214800
HP:0011389	Functional abnormality of the inner ear	2261	FGFR3	ORPHA:2363
HP:0011389	Functional abnormality of the inner ear	2255	FGF10	ORPHA:2363
HP:0011389	Functional abnormality of the inner ear	55033	FKBP14	OMIM:614557
HP:0011389	Functional abnormality of the inner ear	55294	FBXW7	OMIM:620012
HP:0011389	Functional abnormality of the inner ear	56975	FAM20C	OMIM:259775
HP:0011389	Functional abnormality of the inner ear	6234	RPS28	OMIM:606164
HP:0011389	Functional abnormality of the inner ear	65217	PCDH15	OMIM:601067
HP:0011389	Functional abnormality of the inner ear	65217	PCDH15	OMIM:602083
HP:0011389	Functional abnormality of the inner ear	64072	CDH23	OMIM:601067
HP:0011389	Functional abnormality of the inner ear	64072	CDH23	OMIM:601386
HP:0011389	Functional abnormality of the inner ear	491	ATP2B2	OMIM:601386
HP:0011389	Functional abnormality of the inner ear	5137	PDE1C	OMIM:618140
HP:0011389	Functional abnormality of the inner ear	7840	ALMS1	ORPHA:64
HP:0011389	Functional abnormality of the inner ear	117531	TMC1	OMIM:600974
HP:0011389	Functional abnormality of the inner ear	126326	GIPC3	OMIM:601869
HP:0011389	Functional abnormality of the inner ear	53405	CLIC5	OMIM:616042
HP:0011389	Functional abnormality of the inner ear	23262	PPIP5K2	OMIM:618422
HP:0011389	Functional abnormality of the inner ear	22901	ARSG	OMIM:618144
HP:0011389	Functional abnormality of the inner ear	57465	TBC1D24	OMIM:616044
HP:0011389	Functional abnormality of the inner ear	222662	LHFPL5	OMIM:610265
HP:0011389	Functional abnormality of the inner ear	4171	MCM2	OMIM:616968
HP:0011389	Functional abnormality of the inner ear	5357	PLS1	OMIM:618787
HP:0011389	Functional abnormality of the inner ear	10804	GJB6	OMIM:612645
HP:0011389	Functional abnormality of the inner ear	10804	GJB6	OMIM:220290
HP:0011389	Functional abnormality of the inner ear	246213	SLC17A8	OMIM:605583
HP:0011389	Functional abnormality of the inner ear	4287	ATXN3	ORPHA:276244
HP:0011389	Functional abnormality of the inner ear	4287	ATXN3	ORPHA:276241
HP:0011389	Functional abnormality of the inner ear	4287	ATXN3	ORPHA:276238
HP:0011389	Functional abnormality of the inner ear	8763	CD164	OMIM:616969
HP:0011389	Functional abnormality of the inner ear	643226	GRXCR2	OMIM:615837
HP:0011389	Functional abnormality of the inner ear	10518	CIB2	OMIM:614869
HP:0011389	Functional abnormality of the inner ear	10518	CIB2	OMIM:609439
HP:0011389	Functional abnormality of the inner ear	773	CACNA1A	OMIM:108500
HP:0011389	Functional abnormality of the inner ear	5428	POLG	ORPHA:70595
HP:0011389	Functional abnormality of the inner ear	5428	POLG	OMIM:607459
HP:0011389	Functional abnormality of the inner ear	56652	TWNK	ORPHA:70595
HP:0011389	Functional abnormality of the inner ear	56652	TWNK	OMIM:607459
HP:0011389	Functional abnormality of the inner ear	79966	SCD5	OMIM:619086
HP:0011389	Functional abnormality of the inner ear	124590	USH1G	OMIM:606943
HP:0011389	Functional abnormality of the inner ear	83715	ESPN	OMIM:618632
HP:0011389	Functional abnormality of the inner ear	79731	NARS2	OMIM:618434
HP:0011389	Functional abnormality of the inner ear	23516	SLC39A14	OMIM:144755
HP:0011389	Functional abnormality of the inner ear	645104	CLRN2	OMIM:619174
HP:0011389	Functional abnormality of the inner ear	124842	TMEM132E	OMIM:618481
HP:0011389	Functional abnormality of the inner ear	4646	MYO6	OMIM:607821
HP:0011389	Functional abnormality of the inner ear	79955	PDZD7	OMIM:618003
HP:0011389	Functional abnormality of the inner ear	374462	PTPRQ	OMIM:613391
HP:0011389	Functional abnormality of the inner ear	2706	GJB2	OMIM:220290
HP:0011389	Functional abnormality of the inner ear	2707	GJB3	OMIM:220290
HP:0011389	Functional abnormality of the inner ear	182	JAG1	OMIM:617992
HP:0011389	Functional abnormality of the inner ear	125336	LOXHD1	OMIM:613079
HP:0011389	Functional abnormality of the inner ear	220074	LRTOMT	OMIM:611451
HP:0011389	Functional abnormality of the inner ear	3766	KCNJ10	OMIM:274600
HP:0011389	Functional abnormality of the inner ear	2299	FOXI1	OMIM:274600
HP:0011389	Functional abnormality of the inner ear	5172	SLC26A4	OMIM:274600
HP:0011389	Functional abnormality of the inner ear	1690	COCH	OMIM:618094
HP:0011389	Functional abnormality of the inner ear	1678	TIMM8A	ORPHA:52368
HP:0011389	Functional abnormality of the inner ear	7401	CLRN1	OMIM:276902
HP:0011389	Functional abnormality of the inner ear	55553	SOX6	OMIM:618971
HP:0011389	Functional abnormality of the inner ear	388551	CEACAM16	OMIM:618410
HP:0011389	Functional abnormality of the inner ear	388551	CEACAM16	OMIM:614614
HP:0011389	Functional abnormality of the inner ear	84173	ELMOD3	OMIM:619500
HP:0011389	Functional abnormality of the inner ear	4647	MYO7A	OMIM:601317
HP:0011389	Functional abnormality of the inner ear	4647	MYO7A	OMIM:600060
HP:0011389	Functional abnormality of the inner ear	25861	WHRN	OMIM:611383
HP:0011389	Functional abnormality of the inner ear	389207	GRXCR1	OMIM:613285
HP:0011389	Functional abnormality of the inner ear	1428	CRYM	OMIM:616357
HP:0011389	Functional abnormality of the inner ear	117155	CATSPER2	OMIM:611102
HP:0011389	Functional abnormality of the inner ear	161497	STRC	OMIM:611102
HP:0011389	Functional abnormality of the inner ear	23312	DMXL2	OMIM:617605
HP:0011389	Functional abnormality of the inner ear	9750	RIPOR2	OMIM:616515
HP:0011389	Functional abnormality of the inner ear	3371	TNC	OMIM:615629
HP:0011389	Functional abnormality of the inner ear	152137	CCDC50	OMIM:607453
HP:0011389	Functional abnormality of the inner ear	87178	PNPT1	OMIM:614934
HP:0011389	Functional abnormality of the inner ear	11190	CEP250	OMIM:618358
HP:0011389	Functional abnormality of the inner ear	26191	PTPN22	ORPHA:397
HP:0011389	Functional abnormality of the inner ear	3106	HLA-B	ORPHA:397
HP:0011389	Functional abnormality of the inner ear	3106	HLA-B	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	3123	HLA-DRB1	ORPHA:397
HP:0011389	Functional abnormality of the inner ear	8974	P4HA2	ORPHA:397
HP:0011389	Functional abnormality of the inner ear	2639	GCDH	ORPHA:25
HP:0011389	Functional abnormality of the inner ear	4352	MPL	ORPHA:71493
HP:0011389	Functional abnormality of the inner ear	4352	MPL	ORPHA:729
HP:0011389	Functional abnormality of the inner ear	7066	THPO	ORPHA:71493
HP:0011389	Functional abnormality of the inner ear	3717	JAK2	ORPHA:71493
HP:0011389	Functional abnormality of the inner ear	3717	JAK2	ORPHA:729
HP:0011389	Functional abnormality of the inner ear	3717	JAK2	OMIM:133100
HP:0011389	Functional abnormality of the inner ear	3736	KCNA1	OMIM:160120
HP:0011389	Functional abnormality of the inner ear	3736	KCNA1	ORPHA:37612
HP:0011389	Functional abnormality of the inner ear	4598	MVK	OMIM:260920
HP:0011389	Functional abnormality of the inner ear	4038	LRP4	OMIM:614305
HP:0011389	Functional abnormality of the inner ear	785	CACNB4	OMIM:613855
HP:0011389	Functional abnormality of the inner ear	785	CACNB4	ORPHA:211067
HP:0011389	Functional abnormality of the inner ear	2057	EPOR	ORPHA:90042
HP:0011389	Functional abnormality of the inner ear	2057	EPOR	OMIM:133100
HP:0011389	Functional abnormality of the inner ear	6261	RYR1	ORPHA:466650
HP:0011389	Functional abnormality of the inner ear	51816	ADA2	ORPHA:820
HP:0011389	Functional abnormality of the inner ear	6507	SLC1A3	ORPHA:209967
HP:0011389	Functional abnormality of the inner ear	6507	SLC1A3	OMIM:612656
HP:0011389	Functional abnormality of the inner ear	3728	JUP	ORPHA:34217
HP:0011389	Functional abnormality of the inner ear	5155	PDGFB	OMIM:615483
HP:0011389	Functional abnormality of the inner ear	4221	MEN1	ORPHA:2965
HP:0011389	Functional abnormality of the inner ear	9049	AIP	ORPHA:2965
HP:0011389	Functional abnormality of the inner ear	7132	TNFRSF1A	ORPHA:32960
HP:0011389	Functional abnormality of the inner ear	4633	MYL2	OMIM:608758
HP:0011389	Functional abnormality of the inner ear	2642	GCGR	OMIM:619290
HP:0011389	Functional abnormality of the inner ear	9131	AIFM1	OMIM:300614
HP:0011389	Functional abnormality of the inner ear	6326	SCN2A	OMIM:618924
HP:0011389	Functional abnormality of the inner ear	6331	SCN5A	ORPHA:1344
HP:0011389	Functional abnormality of the inner ear	6331	SCN5A	ORPHA:871
HP:0011389	Functional abnormality of the inner ear	4878	NPPA	ORPHA:1344
HP:0011389	Functional abnormality of the inner ear	54790	TET2	ORPHA:729
HP:0011389	Functional abnormality of the inner ear	2717	GLA	ORPHA:324
HP:0011389	Functional abnormality of the inner ear	112476	PRRT2	ORPHA:569
HP:0011389	Functional abnormality of the inner ear	6323	SCN1A	ORPHA:569
HP:0011389	Functional abnormality of the inner ear	477	ATP1A2	ORPHA:569
HP:0011389	Functional abnormality of the inner ear	477	ATP1A2	OMIM:602481
HP:0011389	Functional abnormality of the inner ear	1281	COL3A1	ORPHA:286
HP:0011389	Functional abnormality of the inner ear	2992	GYG1	ORPHA:263297
HP:0011389	Functional abnormality of the inner ear	54805	CNNM2	OMIM:613882
HP:0011389	Functional abnormality of the inner ear	595	CCND1	OMIM:193300
HP:0011389	Functional abnormality of the inner ear	595	CCND1	ORPHA:892
HP:0011389	Functional abnormality of the inner ear	7428	VHL	OMIM:193300
HP:0011389	Functional abnormality of the inner ear	7428	VHL	ORPHA:892
HP:0011389	Functional abnormality of the inner ear	27010	TPK1	OMIM:614458
HP:0011389	Functional abnormality of the inner ear	10528	NOP56	ORPHA:276198
HP:0011389	Functional abnormality of the inner ear	2313	FLI1	ORPHA:370348
HP:0011389	Functional abnormality of the inner ear	1499	CTNNB1	ORPHA:54595
HP:0011389	Functional abnormality of the inner ear	673	BRAF	ORPHA:54595
HP:0011389	Functional abnormality of the inner ear	2259	FGF14	OMIM:620174
HP:0011389	Functional abnormality of the inner ear	4771	NF2	OMIM:101000
HP:0011389	Functional abnormality of the inner ear	54795	TRPM4	ORPHA:871
HP:0011389	Functional abnormality of the inner ear	1482	NKX2-5	ORPHA:871
HP:0011389	Functional abnormality of the inner ear	6324	SCN1B	ORPHA:871
HP:0011389	Functional abnormality of the inner ear	10019	SH2B3	OMIM:133100
HP:0011389	Functional abnormality of the inner ear	1621	DBH	ORPHA:230
HP:0011389	Functional abnormality of the inner ear	2624	GATA2	ORPHA:3226
HP:0011389	Functional abnormality of the inner ear	30813	VSX1	OMIM:614195
HP:0011389	Functional abnormality of the inner ear	801	CALM1	OMIM:614916
HP:0011389	Functional abnormality of the inner ear	801	CALM1	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	9968	MED12	OMIM:301068
HP:0011389	Functional abnormality of the inner ear	8913	CACNA1G	ORPHA:458803
HP:0011389	Functional abnormality of the inner ear	6389	SDHA	OMIM:619259
HP:0011389	Functional abnormality of the inner ear	22943	DKK1	ORPHA:268882
HP:0011389	Functional abnormality of the inner ear	4668	NAGA	ORPHA:79280
HP:0011389	Functional abnormality of the inner ear	4668	NAGA	OMIM:609242
HP:0011389	Functional abnormality of the inner ear	4668	NAGA	ORPHA:79279
HP:0011389	Functional abnormality of the inner ear	805	CALM2	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	253017	TECRL	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	10345	TRDN	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	808	CALM3	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	845	CASQ2	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	6262	RYR2	ORPHA:3286
HP:0011389	Functional abnormality of the inner ear	6774	STAT3	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	5371	PML	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	5914	RARA	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	359948	IRF2BP2	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	81608	FIP1L1	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	4869	NPM1	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	5573	PRKAR1A	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	54880	BCOR	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	64859	NABP1	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	6777	STAT5B	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	4926	NUMA1	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	7704	ZBTB16	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	79718	TBL1XR1	ORPHA:520
HP:0011389	Functional abnormality of the inner ear	4615	MYD88	ORPHA:33226
HP:0011389	Functional abnormality of the inner ear	6559	SLC12A3	OMIM:263800
HP:0011389	Functional abnormality of the inner ear	6559	SLC12A3	ORPHA:358
HP:0011389	Functional abnormality of the inner ear	1188	CLCNKB	ORPHA:358
HP:0011389	Functional abnormality of the inner ear	149233	IL23R	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	6775	STAT4	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	3586	IL10	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	4210	MEFV	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	1230	CCR1	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	355	FAS	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	3592	IL12A	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	101928376	IL12A-AS1	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	7099	TLR4	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	3459	IFNGR1	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	720	C4A	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	337867	UBAC2	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	51752	ERAP1	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	8302	KLRC4	ORPHA:117
HP:0011389	Functional abnormality of the inner ear	26012	NSMF	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	2796	GNRH1	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	2798	GNRHR	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	84634	KISS1R	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	6866	TAC3	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	3814	KISS1	ORPHA:432
HP:0011389	Functional abnormality of the inner ear	51241	COX16	OMIM:619355
HP:0011389	Functional abnormality of the inner ear	80000	GREB1L	OMIM:619274
HP:0011389	Functional abnormality of the inner ear	51081	MRPS7	OMIM:617872
HP:0011389	Functional abnormality of the inner ear	4919	ROR1	OMIM:617654
HP:0011389	Functional abnormality of the inner ear	5959	RDH5	ORPHA:52427
HP:0011389	Functional abnormality of the inner ear	8942	KYNU	ORPHA:79155
HP:0011389	Functional abnormality of the inner ear	54845	ESRP1	OMIM:618013
HP:0011389	Functional abnormality of the inner ear	10083	USH1C	OMIM:276900
HP:0011389	Functional abnormality of the inner ear	6813	STXBP2	OMIM:613101
HP:0011389	Functional abnormality of the inner ear	4000	LMNA	ORPHA:740
HP:0011389	Functional abnormality of the inner ear	10269	ZMPSTE24	ORPHA:740
HP:0011389	Functional abnormality of the inner ear	7466	WFS1	OMIM:600965
HP:0011389	Functional abnormality of the inner ear	1757	SARDH	ORPHA:3129
HP:0011389	Functional abnormality of the inner ear	10216	PRG4	ORPHA:2848
HP:0011389	Functional abnormality of the inner ear	54820	NDE1	ORPHA:2177
HP:0011389	Functional abnormality of the inner ear	7084	TK2	ORPHA:254875
HP:0011389	Functional abnormality of the inner ear	26040	SETBP1	ORPHA:798
HP:0011389	Functional abnormality of the inner ear	1161	ERCC8	ORPHA:90324
HP:0011389	Functional abnormality of the inner ear	2074	ERCC6	ORPHA:90324
HP:0011389	Functional abnormality of the inner ear	1716	DGUOK	ORPHA:329314
HP:0011389	Functional abnormality of the inner ear	7809	BSND	ORPHA:89938
HP:0011389	Functional abnormality of the inner ear	1187	CLCNKA	ORPHA:89938
HP:0011389	Functional abnormality of the inner ear	79784	MYH14	ORPHA:397744
HP:0011389	Functional abnormality of the inner ear	27316	RBMX	OMIM:300238
HP:0011389	Functional abnormality of the inner ear	410	ARSA	ORPHA:309256
HP:0011389	Functional abnormality of the inner ear	410	ARSA	ORPHA:309271
HP:0011389	Functional abnormality of the inner ear	410	ARSA	ORPHA:309263
HP:0011389	Functional abnormality of the inner ear	5660	PSAP	ORPHA:309256
HP:0011389	Functional abnormality of the inner ear	5660	PSAP	ORPHA:309271
HP:0011389	Functional abnormality of the inner ear	5660	PSAP	ORPHA:309263
HP:0011389	Functional abnormality of the inner ear	23126	POGZ	OMIM:616364
HP:0011389	Functional abnormality of the inner ear	6711	SPTBN1	OMIM:619475
HP:0011389	Functional abnormality of the inner ear	84334	COA8	ORPHA:436271
HP:0011389	Functional abnormality of the inner ear	80067	DCAF17	ORPHA:3464
HP:0011389	Functional abnormality of the inner ear	92935	MARS2	ORPHA:314603
HP:0011389	Functional abnormality of the inner ear	2521	FUS	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	8878	SQSTM1	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	7415	VCP	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	23435	TARDBP	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	29110	TBK1	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	400916	CHCHD10	ORPHA:275872
HP:0011389	Functional abnormality of the inner ear	25914	RTTN	ORPHA:468631
HP:0011389	Functional abnormality of the inner ear	1288	COL4A6	OMIM:300914
HP:0011389	Functional abnormality of the inner ear	526	ATP6V1B2	OMIM:124480
HP:0011389	Functional abnormality of the inner ear	2811	GP1BA	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	2812	GP1BB	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	3674	ITGA2B	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	3673	ITGA2	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	135228	CD109	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	3690	ITGB3	ORPHA:853
HP:0011389	Functional abnormality of the inner ear	4131	MAP1B	OMIM:619808
HP:0011389	Functional abnormality of the inner ear	51	ACOX1	OMIM:264470
HP:0011389	Functional abnormality of the inner ear	4512	MT-CO1	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4513	MT-CO2	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4514	MT-CO3	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4519	MT-CYB	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4511	MT-TC	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4574	MT-TS1	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4575	MT-TS2	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4558	MT-TF	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4541	MT-ND6	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4567	MT-TL1	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4540	MT-ND5	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4566	MT-TK	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4535	MT-ND1	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4572	MT-TQ	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4577	MT-TV	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	4578	MT-TW	OMIM:540000
HP:0011389	Functional abnormality of the inner ear	55739	NAXD	OMIM:618321
HP:0011389	Functional abnormality of the inner ear	50484	RRM2B	OMIM:268315
HP:0011389	Functional abnormality of the inner ear	71	ACTG1	OMIM:604717
HP:0011389	Functional abnormality of the inner ear	8565	YARS1	OMIM:619418
HP:0011389	Functional abnormality of the inner ear	10381	TUBB3	ORPHA:300570
HP:0011389	Functional abnormality of the inner ear	131118	DNAJC19	ORPHA:66634
HP:0011389	Functional abnormality of the inner ear	2961	GTF2E2	OMIM:616943
HP:0011389	Functional abnormality of the inner ear	2961	GTF2E2	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	404672	GTF2H5	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	833	CARS1	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	2068	ERCC2	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	7737	RNF113A	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	136647	MPLKIP	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	6897	TARS1	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	2071	ERCC3	ORPHA:33364
HP:0011389	Functional abnormality of the inner ear	3954	LETM1	OMIM:620089
HP:0011389	Functional abnormality of the inner ear	22856	CHSY1	OMIM:605282
HP:0011389	Functional abnormality of the inner ear	50617	ATP6V0A4	OMIM:602722
HP:0011389	Functional abnormality of the inner ear	5611	DNAJC3	ORPHA:445062
HP:0011389	Functional abnormality of the inner ear	219972	MPEG1	OMIM:619223
HP:0011389	Functional abnormality of the inner ear	10533	ATG7	OMIM:619422
HP:0011389	Functional abnormality of the inner ear	22808	MRAS	OMIM:618499
HP:0011389	Functional abnormality of the inner ear	92949	ADAMTSL1	ORPHA:521445
HP:0011389	Functional abnormality of the inner ear	51776	MAP3K20	ORPHA:488232
HP:0011389	Functional abnormality of the inner ear	1834	DSPP	OMIM:605594
HP:0011389	Functional abnormality of the inner ear	4990	SIX6	OMIM:206900
HP:0011389	Functional abnormality of the inner ear	6657	SOX2	OMIM:206900
HP:0011389	Functional abnormality of the inner ear	29899	GPSM2	OMIM:604213
HP:0011389	Functional abnormality of the inner ear	11078	TRIOBP	OMIM:609823
HP:0011389	Functional abnormality of the inner ear	1743	DLST	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	4191	MDH2	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	5979	RET	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	5979	RET	ORPHA:276621
HP:0011389	Functional abnormality of the inner ear	23095	KIF1B	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	2271	FH	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	8402	SLC25A11	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	54949	SDHAF2	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	55654	TMEM127	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	4763	NF1	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	6391	SDHC	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	6392	SDHD	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	6392	SDHD	ORPHA:276621
HP:0011389	Functional abnormality of the inner ear	6390	SDHB	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	6390	SDHB	ORPHA:276621
HP:0011389	Functional abnormality of the inner ear	4149	MAX	ORPHA:29072
HP:0011389	Functional abnormality of the inner ear	1788	DNMT3A	ORPHA:276621
HP:0011389	Functional abnormality of the inner ear	2034	EPAS1	ORPHA:276621
HP:0011389	Functional abnormality of the inner ear	5962	RDX	OMIM:611022
HP:0011389	Functional abnormality of the inner ear	3735	KARS1	OMIM:619196
HP:0011389	Functional abnormality of the inner ear	5376	PMP22	ORPHA:90658
HP:0011389	Functional abnormality of the inner ear	3753	KCNE1	ORPHA:90647
HP:0011389	Functional abnormality of the inner ear	3784	KCNQ1	ORPHA:90647
HP:0011389	Functional abnormality of the inner ear	5631	PRPS1	ORPHA:1187
HP:0011389	Functional abnormality of the inner ear	6558	SLC12A2	OMIM:619081
HP:0011389	Functional abnormality of the inner ear	51168	MYO15A	OMIM:600316
HP:0011389	Functional abnormality of the inner ear	2248	FGF3	OMIM:610706
HP:0011389	Functional abnormality of the inner ear	2395	FXN	ORPHA:95
HP:0011389	Functional abnormality of the inner ear	847	CAT	ORPHA:926
HP:0011384	Abnormality of the internal auditory canal	5456	POU3F4	OMIM:304400
HP:0011384	Abnormality of the internal auditory canal	5456	POU3F4	ORPHA:1435
HP:0011384	Abnormality of the internal auditory canal	10804	GJB6	OMIM:304400
HP:0011384	Abnormality of the internal auditory canal	2706	GJB2	OMIM:304400
HP:0011384	Abnormality of the internal auditory canal	2138	EYA1	OMIM:602588
HP:0011384	Abnormality of the internal auditory canal	2138	EYA1	OMIM:113650
HP:0011384	Abnormality of the internal auditory canal	6495	SIX1	OMIM:113650
HP:0011384	Abnormality of the internal auditory canal	57167	SALL4	ORPHA:233
HP:0011384	Abnormality of the internal auditory canal	9935	MAFB	ORPHA:233
HP:0011384	Abnormality of the internal auditory canal	1123	CHN1	ORPHA:233
HP:0011384	Abnormality of the internal auditory canal	7291	TWIST1	ORPHA:794
HP:0011384	Abnormality of the internal auditory canal	2263	FGFR2	ORPHA:794
HP:0011384	Abnormality of the internal auditory canal	2263	FGFR2	ORPHA:207
HP:0011384	Abnormality of the internal auditory canal	2261	FGFR3	ORPHA:794
HP:0011384	Abnormality of the internal auditory canal	84172	POLR1B	ORPHA:861
HP:0011384	Abnormality of the internal auditory canal	9533	POLR1C	ORPHA:861
HP:0011384	Abnormality of the internal auditory canal	51082	POLR1D	ORPHA:861
HP:0011384	Abnormality of the internal auditory canal	6949	TCOF1	ORPHA:861
HP:0011384	Abnormality of the internal auditory canal	5396	PRRX1	ORPHA:990
HP:0011384	Abnormality of the internal auditory canal	5015	OTX2	ORPHA:990
HP:0011384	Abnormality of the internal auditory canal	2077	ERF	ORPHA:207
HP:0011384	Abnormality of the internal auditory canal	5728	PTEN	ORPHA:744
HP:0011384	Abnormality of the internal auditory canal	207	AKT1	ORPHA:744
HP:0008326	Reduced circulating vitamin B6 level	7276	TTR	OMIM:115430
HP:0008326	Reduced circulating vitamin B6 level	8659	ALDH4A1	ORPHA:79101
HP:0004432	Agammaglobulinemia	695	BTK	ORPHA:47
HP:0004432	Agammaglobulinemia	695	BTK	OMIM:300755
HP:0004432	Agammaglobulinemia	30011	SH3KBP1	OMIM:300310
HP:0004432	Agammaglobulinemia	3551	IKBKB	OMIM:615592
HP:0004432	Agammaglobulinemia	57217	TTC7A	OMIM:243150
HP:0004432	Agammaglobulinemia	7922	SLC39A7	OMIM:619693
HP:0004432	Agammaglobulinemia	5295	PIK3R1	OMIM:615214
HP:0004432	Agammaglobulinemia	5295	PIK3R1	ORPHA:33110
HP:0004432	Agammaglobulinemia	4261	CIITA	OMIM:209920
HP:0004432	Agammaglobulinemia	5994	RFXAP	OMIM:209920
HP:0004432	Agammaglobulinemia	5993	RFX5	OMIM:209920
HP:0004432	Agammaglobulinemia	8625	RFXANK	OMIM:209920
HP:0004432	Agammaglobulinemia	6929	TCF3	OMIM:616941
HP:0004432	Agammaglobulinemia	6929	TCF3	OMIM:619824
HP:0004432	Agammaglobulinemia	6929	TCF3	ORPHA:33110
HP:0004432	Agammaglobulinemia	3507	IGHM	OMIM:601495
HP:0004432	Agammaglobulinemia	3507	IGHM	ORPHA:33110
HP:0004432	Agammaglobulinemia	1678	TIMM8A	ORPHA:52368
HP:0004432	Agammaglobulinemia	3561	IL2RG	OMIM:300400
HP:0004432	Agammaglobulinemia	974	CD79B	OMIM:612692
HP:0004432	Agammaglobulinemia	974	CD79B	ORPHA:33110
HP:0004432	Agammaglobulinemia	96459	FNIP1	OMIM:619705
HP:0004432	Agammaglobulinemia	6688	SPI1	OMIM:619707
HP:0004432	Agammaglobulinemia	973	CD79A	OMIM:613501
HP:0004432	Agammaglobulinemia	973	CD79A	ORPHA:33110
HP:0004432	Agammaglobulinemia	3543	IGLL1	OMIM:613500
HP:0004432	Agammaglobulinemia	3543	IGLL1	ORPHA:33110
HP:0004432	Agammaglobulinemia	3070	HELLS	OMIM:616911
HP:0004432	Agammaglobulinemia	84433	CARD11	OMIM:615206
HP:0004432	Agammaglobulinemia	83879	CDCA7	OMIM:616910
HP:0004432	Agammaglobulinemia	29760	BLNK	OMIM:613502
HP:0004432	Agammaglobulinemia	29760	BLNK	ORPHA:33110
HP:0004432	Agammaglobulinemia	56262	LRRC8A	OMIM:613506
HP:0004432	Agammaglobulinemia	56262	LRRC8A	ORPHA:33110
HP:0008330	Reduced von Willebrand factor activity	2157	F8	ORPHA:169802
HP:0008330	Reduced von Willebrand factor activity	7450	VWF	OMIM:277480
HP:0008330	Reduced von Willebrand factor activity	23218	NBEAL2	OMIM:139090
HP:0008331	Elevated creatine kinase after exercise	270	AMPD1	ORPHA:45
HP:0008331	Elevated creatine kinase after exercise	272	AMPD3	ORPHA:45
HP:0008331	Elevated creatine kinase after exercise	226	ALDOA	ORPHA:57
HP:0008331	Elevated creatine kinase after exercise	1763	DNA2	ORPHA:352470
HP:0008331	Elevated creatine kinase after exercise	3939	LDHA	ORPHA:284426
HP:0008331	Elevated creatine kinase after exercise	28976	ACAD9	ORPHA:99901
HP:0008331	Elevated creatine kinase after exercise	859	CAV3	ORPHA:206599
HP:0008331	Elevated creatine kinase after exercise	54344	DPM3	ORPHA:263494
HP:0008331	Elevated creatine kinase after exercise	788	SLC25A20	ORPHA:159
HP:0008331	Elevated creatine kinase after exercise	779	CACNA1S	ORPHA:423
HP:0008331	Elevated creatine kinase after exercise	6261	RYR1	ORPHA:423
HP:0001171	Split hand	64840	PORCN	OMIM:305600
HP:0001171	Split hand	64840	PORCN	ORPHA:2092
HP:0001171	Split hand	5376	PMP22	OMIM:118300
HP:0001171	Split hand	5376	PMP22	OMIM:118220
HP:0001171	Split hand	5376	PMP22	ORPHA:90658
HP:0001171	Split hand	5376	PMP22	OMIM:145900
HP:0001171	Split hand	6910	TBX5	ORPHA:392
HP:0001171	Split hand	3094	HINT1	ORPHA:324442
HP:0001171	Split hand	22880	MORC2	OMIM:616688
HP:0001171	Split hand	1001	CDH3	OMIM:225280
HP:0001171	Split hand	8626	TP63	OMIM:604292
HP:0001171	Split hand	8626	TP63	ORPHA:2440
HP:0001171	Split hand	8626	TP63	OMIM:103285
HP:0001171	Split hand	8626	TP63	OMIM:603543
HP:0001171	Split hand	8626	TP63	OMIM:605289
HP:0001171	Split hand	8626	TP63	ORPHA:1896
HP:0001171	Split hand	4047	LSS	ORPHA:2850
HP:0001171	Split hand	197	AHSG	ORPHA:2850
HP:0001171	Split hand	3694	ITGB6	ORPHA:2850
HP:0001171	Split hand	79581	SLC52A2	OMIM:614707
HP:0001171	Split hand	411	ARSB	OMIM:253200
HP:0001171	Split hand	9150	CTDP1	OMIM:604168
HP:0001171	Split hand	54332	GDAP1	OMIM:607831
HP:0001171	Split hand	54332	GDAP1	ORPHA:101097
HP:0001171	Split hand	56704	JPH1	OMIM:607831
HP:0001171	Split hand	51776	MAP3K20	OMIM:616890
HP:0001171	Split hand	1750	DLX6	ORPHA:2440
HP:0001171	Split hand	7979	SEM1	ORPHA:2440
HP:0001171	Split hand	8945	BTRC	ORPHA:2440
HP:0001171	Split hand	58513	EPS15L1	ORPHA:2440
HP:0001171	Split hand	6468	FBXW4	ORPHA:2440
HP:0001171	Split hand	7480	WNT10B	ORPHA:2440
HP:0001171	Split hand	7480	WNT10B	OMIM:225300
HP:0001171	Split hand	1749	DLX5	ORPHA:2440
HP:0001171	Split hand	1749	DLX5	OMIM:183600
HP:0001171	Split hand	1749	DLX5	OMIM:220600
HP:0001171	Split hand	1717	DHCR7	ORPHA:818
HP:0001171	Split hand	9968	MED12	OMIM:305450
HP:0001171	Split hand	81846	SBF2	OMIM:604563
HP:0001171	Split hand	79158	GNPTAB	OMIM:252500
HP:0001171	Split hand	79158	GNPTAB	OMIM:252600
HP:0001171	Split hand	3516	RBPJ	ORPHA:974
HP:0001171	Split hand	4851	NOTCH1	ORPHA:974
HP:0001171	Split hand	57514	ARHGAP31	ORPHA:974
HP:0001171	Split hand	57572	DOCK6	ORPHA:974
HP:0001171	Split hand	285203	EOGT	ORPHA:974
HP:0001171	Split hand	54567	DLL4	ORPHA:974
HP:0001171	Split hand	8888	MCM3AP	OMIM:618124
HP:0001171	Split hand	4359	MPZ	OMIM:118200
HP:0001171	Split hand	4359	MPZ	OMIM:145900
HP:0001171	Split hand	3423	IDS	OMIM:309900
HP:0001171	Split hand	3664	IRF6	ORPHA:1300
HP:0001171	Split hand	727857	BHLHA9	ORPHA:3329
HP:0001171	Split hand	2261	FGFR3	ORPHA:1860
HP:0001171	Split hand	374969	SVBP	OMIM:618569
HP:0001171	Split hand	3295	HSD17B4	OMIM:261515
HP:0001171	Split hand	7476	WNT7A	OMIM:276820
HP:0001171	Split hand	1509	CTSD	OMIM:610127
HP:0001171	Split hand	64359	NXN	ORPHA:1507
HP:0001171	Split hand	4920	ROR2	ORPHA:1507
HP:0001171	Split hand	26580	BSCL2	OMIM:270685
HP:0001171	Split hand	26580	BSCL2	ORPHA:100998
HP:0001171	Split hand	26123	TCTN3	ORPHA:2753
HP:0001171	Split hand	4313	MMP2	OMIM:259600
HP:0001171	Split hand	2260	FGFR1	ORPHA:2117
HP:0001171	Split hand	10397	NDRG1	ORPHA:99950
HP:0001171	Split hand	10815	CPLX1	ORPHA:280
HP:0001171	Split hand	10815	CPLX1	OMIM:194190
HP:0001171	Split hand	54872	PIGG	ORPHA:280
HP:0001171	Split hand	7469	NELFA	ORPHA:280
HP:0001171	Split hand	1487	CTBP1	ORPHA:280
HP:0001171	Split hand	1487	CTBP1	OMIM:194190
HP:0001171	Split hand	3954	LETM1	ORPHA:280
HP:0001171	Split hand	3954	LETM1	OMIM:194190
HP:0001171	Split hand	7468	NSD2	ORPHA:280
HP:0001171	Split hand	7468	NSD2	OMIM:194190
HP:0001171	Split hand	4747	NEFL	OMIM:617882
HP:0001171	Split hand	53834	FGFRL1	OMIM:194190
HP:0001171	Split hand	1959	EGR2	OMIM:145900
HP:0001171	Split hand	57716	PRX	OMIM:145900
HP:0001171	Split hand	2737	GLI3	ORPHA:93322
HP:0001172	Abnormal thumb morphology	2189	FANCG	OMIM:614082
HP:0001172	Abnormal thumb morphology	2189	FANCG	ORPHA:84
HP:0001172	Abnormal thumb morphology	80207	OPA3	ORPHA:67036
HP:0001172	Abnormal thumb morphology	9158	FIBP	ORPHA:500095
HP:0001172	Abnormal thumb morphology	9968	MED12	ORPHA:93932
HP:0001172	Abnormal thumb morphology	8200	GDF5	ORPHA:2639
HP:0001172	Abnormal thumb morphology	658	BMPR1B	ORPHA:2639
HP:0001172	Abnormal thumb morphology	672	BRCA1	ORPHA:84
HP:0001172	Abnormal thumb morphology	10459	MAD2L2	ORPHA:84
HP:0001172	Abnormal thumb morphology	7516	XRCC2	ORPHA:84
HP:0001172	Abnormal thumb morphology	29089	UBE2T	ORPHA:84
HP:0001172	Abnormal thumb morphology	675	BRCA2	ORPHA:84
HP:0001172	Abnormal thumb morphology	55120	FANCL	ORPHA:84
HP:0001172	Abnormal thumb morphology	2175	FANCA	ORPHA:84
HP:0001172	Abnormal thumb morphology	2187	FANCB	ORPHA:84
HP:0001172	Abnormal thumb morphology	2176	FANCC	ORPHA:84
HP:0001172	Abnormal thumb morphology	2178	FANCE	ORPHA:84
HP:0001172	Abnormal thumb morphology	2188	FANCF	ORPHA:84
HP:0001172	Abnormal thumb morphology	5888	RAD51	ORPHA:84
HP:0001172	Abnormal thumb morphology	5889	RAD51C	ORPHA:84
HP:0001172	Abnormal thumb morphology	55159	RFWD3	ORPHA:84
HP:0001172	Abnormal thumb morphology	83990	BRIP1	ORPHA:84
HP:0001172	Abnormal thumb morphology	57697	FANCM	ORPHA:84
HP:0001172	Abnormal thumb morphology	79728	PALB2	ORPHA:84
HP:0001172	Abnormal thumb morphology	84464	SLX4	ORPHA:84
HP:0001172	Abnormal thumb morphology	2072	ERCC4	ORPHA:84
HP:0001172	Abnormal thumb morphology	55215	FANCI	ORPHA:84
HP:0001172	Abnormal thumb morphology	64093	SMOC1	ORPHA:1106
HP:0001172	Abnormal thumb morphology	2261	FGFR3	OMIM:620192
HP:0001172	Abnormal thumb morphology	2261	FGFR3	ORPHA:2363
HP:0001172	Abnormal thumb morphology	23111	SPART	ORPHA:101000
HP:0001172	Abnormal thumb morphology	25942	SIN3A	ORPHA:94065
HP:0001172	Abnormal thumb morphology	1193	CLIC2	ORPHA:324410
HP:0001172	Abnormal thumb morphology	860	RUNX2	ORPHA:1452
HP:0001172	Abnormal thumb morphology	2255	FGF10	ORPHA:2363
HP:0001172	Abnormal thumb morphology	6469	SHH	ORPHA:93321
HP:0001172	Abnormal thumb morphology	57167	SALL4	ORPHA:233
HP:0001172	Abnormal thumb morphology	57167	SALL4	ORPHA:959
HP:0001172	Abnormal thumb morphology	57167	SALL4	ORPHA:2307
HP:0001172	Abnormal thumb morphology	9935	MAFB	ORPHA:233
HP:0001172	Abnormal thumb morphology	1123	CHN1	ORPHA:233
HP:0001172	Abnormal thumb morphology	2137	EXTL3	ORPHA:508533
HP:0001172	Abnormal thumb morphology	22827	PUF60	ORPHA:508498
HP:0001172	Abnormal thumb morphology	65250	CPLANE1	OMIM:277170
HP:0001172	Abnormal thumb morphology	6608	SMO	OMIM:601707
HP:0001172	Abnormal thumb morphology	6608	SMO	ORPHA:1553
HP:0001172	Abnormal thumb morphology	4750	NEK1	OMIM:263520
HP:0001172	Abnormal thumb morphology	2737	GLI3	OMIM:175700
HP:0001172	Abnormal thumb morphology	2737	GLI3	ORPHA:380
HP:0001172	Abnormal thumb morphology	2737	GLI3	OMIM:174200
HP:0001172	Abnormal thumb morphology	64327	LMBR1	ORPHA:2378
HP:0001172	Abnormal thumb morphology	64327	LMBR1	OMIM:174500
HP:0001172	Abnormal thumb morphology	55027	HEATR3	OMIM:620072
HP:0001172	Abnormal thumb morphology	6299	SALL1	OMIM:107480
HP:0001172	Abnormal thumb morphology	6299	SALL1	ORPHA:857
HP:0001172	Abnormal thumb morphology	55112	DYNC2I1	ORPHA:93271
HP:0001172	Abnormal thumb morphology	57560	IFT80	ORPHA:93271
HP:0001172	Abnormal thumb morphology	57539	WDR35	ORPHA:93271
HP:0001172	Abnormal thumb morphology	79659	DYNC2H1	ORPHA:93271
HP:0001172	Abnormal thumb morphology	89891	DYNC2I2	ORPHA:93271
HP:0001172	Abnormal thumb morphology	374879	ZNF699	OMIM:619488
HP:0001172	Abnormal thumb morphology	374654	KIF7	OMIM:200990
HP:0001172	Abnormal thumb morphology	8318	CDC45	OMIM:617063
HP:0001172	Abnormal thumb morphology	51339	DACT1	ORPHA:857
HP:0001172	Abnormal thumb morphology	2177	FANCD2	OMIM:227646
HP:0001172	Abnormal thumb morphology	727857	BHLHA9	ORPHA:3329
HP:0001172	Abnormal thumb morphology	23133	PHF8	ORPHA:85287
HP:0001172	Abnormal thumb morphology	8481	OFD1	ORPHA:2750
HP:0001172	Abnormal thumb morphology	219844	HYLS1	OMIM:236680
HP:0001172	Abnormal thumb morphology	26123	TCTN3	ORPHA:2753
HP:0001172	Abnormal thumb morphology	26123	TCTN3	ORPHA:564
HP:0001172	Abnormal thumb morphology	2697	GJA1	ORPHA:2710
HP:0001172	Abnormal thumb morphology	3239	HOXD13	ORPHA:887
HP:0001172	Abnormal thumb morphology	7020	TFAP2A	OMIM:113620
HP:0001172	Abnormal thumb morphology	7020	TFAP2A	ORPHA:1297
HP:0001172	Abnormal thumb morphology	84314	TMEM107	ORPHA:564
HP:0001172	Abnormal thumb morphology	79867	TCTN2	ORPHA:564
HP:0001172	Abnormal thumb morphology	80776	B9D2	ORPHA:564
HP:0001172	Abnormal thumb morphology	79600	TCTN1	ORPHA:564
HP:0001172	Abnormal thumb morphology	57096	RPGRIP1	ORPHA:564
HP:0001172	Abnormal thumb morphology	79848	CSPP1	ORPHA:564
HP:0001172	Abnormal thumb morphology	80184	CEP290	ORPHA:564
HP:0001172	Abnormal thumb morphology	51259	TMEM216	ORPHA:564
HP:0001172	Abnormal thumb morphology	57545	CC2D2A	ORPHA:564
HP:0001172	Abnormal thumb morphology	79583	TMEM231	ORPHA:564
HP:0001172	Abnormal thumb morphology	91147	TMEM67	ORPHA:564
HP:0001172	Abnormal thumb morphology	79770	TXNDC15	ORPHA:564
HP:0001172	Abnormal thumb morphology	27077	B9D1	ORPHA:564
HP:0001172	Abnormal thumb morphology	23322	RPGRIP1L	ORPHA:564
HP:0001172	Abnormal thumb morphology	54903	MKS1	ORPHA:564
HP:0001172	Abnormal thumb morphology	65062	TMEM237	ORPHA:564
HP:0001172	Abnormal thumb morphology	10815	CPLX1	ORPHA:280
HP:0001172	Abnormal thumb morphology	10815	CPLX1	OMIM:194190
HP:0001172	Abnormal thumb morphology	54872	PIGG	ORPHA:280
HP:0001172	Abnormal thumb morphology	7469	NELFA	ORPHA:280
HP:0001172	Abnormal thumb morphology	1487	CTBP1	ORPHA:280
HP:0001172	Abnormal thumb morphology	1487	CTBP1	OMIM:194190
HP:0001172	Abnormal thumb morphology	3954	LETM1	ORPHA:280
HP:0001172	Abnormal thumb morphology	3954	LETM1	OMIM:194190
HP:0001172	Abnormal thumb morphology	7468	NSD2	ORPHA:280
HP:0001172	Abnormal thumb morphology	7468	NSD2	OMIM:194190
HP:0001172	Abnormal thumb morphology	2735	GLI1	OMIM:174400
HP:0001172	Abnormal thumb morphology	53834	FGFRL1	OMIM:194190
HP:0001172	Abnormal thumb morphology	9343	EFTUD2	OMIM:610536
HP:0001172	Abnormal thumb morphology	9343	EFTUD2	ORPHA:79113
HP:0001172	Abnormal thumb morphology	2263	FGFR2	OMIM:101200
HP:0001172	Abnormal thumb morphology	1802	DPH2	OMIM:620062
HP:0001172	Abnormal thumb morphology	91949	COG7	OMIM:608779
HP:0001172	Abnormal thumb morphology	91949	COG7	ORPHA:79333
HP:0001172	Abnormal thumb morphology	27238	GPKOW	ORPHA:2570
HP:0001172	Abnormal thumb morphology	23141	ANKLE2	OMIM:616681
HP:0001172	Abnormal thumb morphology	29895	MYL11	OMIM:619110
HP:0001172	Abnormal thumb morphology	5393	EXOSC9	OMIM:618065
HP:0001172	Abnormal thumb morphology	1861	TOR1A	OMIM:618947
HP:0001172	Abnormal thumb morphology	55627	SMPD4	OMIM:618622
HP:0001172	Abnormal thumb morphology	6804	STX1A	ORPHA:904
HP:0001172	Abnormal thumb morphology	7461	CLIP2	ORPHA:904
HP:0001172	Abnormal thumb morphology	84277	DNAJC30	ORPHA:904
HP:0001172	Abnormal thumb morphology	8468	FKBP6	ORPHA:904
HP:0001172	Abnormal thumb morphology	5982	RFC2	ORPHA:904
HP:0001172	Abnormal thumb morphology	2969	GTF2I	ORPHA:904
HP:0001172	Abnormal thumb morphology	3984	LIMK1	ORPHA:904
HP:0001172	Abnormal thumb morphology	9569	GTF2IRD1	ORPHA:904
HP:0001172	Abnormal thumb morphology	155382	VPS37D	ORPHA:904
HP:0001172	Abnormal thumb morphology	155368	METTL27	ORPHA:904
HP:0001172	Abnormal thumb morphology	114049	BUD23	ORPHA:904
HP:0001172	Abnormal thumb morphology	7458	EIF4H	ORPHA:904
HP:0001172	Abnormal thumb morphology	84163	GTF2IRD2	ORPHA:904
HP:0001172	Abnormal thumb morphology	9275	BCL7B	ORPHA:904
HP:0001172	Abnormal thumb morphology	26608	TBL2	ORPHA:904
HP:0001172	Abnormal thumb morphology	653361	NCF1	ORPHA:904
HP:0001172	Abnormal thumb morphology	135886	TMEM270	ORPHA:904
HP:0001172	Abnormal thumb morphology	51085	MLXIPL	ORPHA:904
HP:0001172	Abnormal thumb morphology	9031	BAZ1B	ORPHA:904
HP:0001172	Abnormal thumb morphology	2006	ELN	ORPHA:904
HP:0001172	Abnormal thumb morphology	2006	ELN	ORPHA:90348
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	OMIM:616603
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	OMIM:219150
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	ORPHA:90348
HP:0001172	Abnormal thumb morphology	347734	SLC35B2	OMIM:620269
HP:0001172	Abnormal thumb morphology	23345	SYNE1	ORPHA:319332
HP:0001172	Abnormal thumb morphology	23345	SYNE1	OMIM:618484
HP:0001172	Abnormal thumb morphology	2200	FBN1	ORPHA:284979
HP:0001172	Abnormal thumb morphology	84992	PIGY	OMIM:616809
HP:0001172	Abnormal thumb morphology	1303	COL12A1	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1303	COL12A1	ORPHA:536516
HP:0001172	Abnormal thumb morphology	1291	COL6A1	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1292	COL6A2	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1293	COL6A3	ORPHA:75840
HP:0001172	Abnormal thumb morphology	9839	ZEB2	ORPHA:261537
HP:0001172	Abnormal thumb morphology	9839	ZEB2	ORPHA:261552
HP:0001172	Abnormal thumb morphology	215	ABCD1	ORPHA:388
HP:0001172	Abnormal thumb morphology	5979	RET	ORPHA:388
HP:0001172	Abnormal thumb morphology	2668	GDNF	ORPHA:388
HP:0001172	Abnormal thumb morphology	6720	SREBF1	ORPHA:388
HP:0001172	Abnormal thumb morphology	1908	EDN3	ORPHA:388
HP:0001172	Abnormal thumb morphology	223117	SEMA3D	ORPHA:388
HP:0001172	Abnormal thumb morphology	538	ATP7A	ORPHA:388
HP:0001172	Abnormal thumb morphology	1910	EDNRB	ORPHA:388
HP:0001172	Abnormal thumb morphology	10512	SEMA3C	ORPHA:388
HP:0001172	Abnormal thumb morphology	2064	ERBB2	ORPHA:388
HP:0001172	Abnormal thumb morphology	2065	ERBB3	ORPHA:388
HP:0001172	Abnormal thumb morphology	4902	NRTN	ORPHA:388
HP:0001172	Abnormal thumb morphology	113189	CHST14	OMIM:601776
HP:0001172	Abnormal thumb morphology	10479	SLC9A6	OMIM:300243
HP:0001172	Abnormal thumb morphology	10479	SLC9A6	ORPHA:85278
HP:0001172	Abnormal thumb morphology	91754	NEK9	OMIM:617022
HP:0001172	Abnormal thumb morphology	5649	RELN	ORPHA:89844
HP:0001172	Abnormal thumb morphology	10300	KATNB1	ORPHA:89844
HP:0001172	Abnormal thumb morphology	54820	NDE1	ORPHA:89844
HP:0001172	Abnormal thumb morphology	58	ACTA1	ORPHA:171430
HP:0001172	Abnormal thumb morphology	4703	NEB	ORPHA:171430
HP:0001172	Abnormal thumb morphology	4703	NEB	OMIM:619334
HP:0001172	Abnormal thumb morphology	131377	KLHL40	ORPHA:171430
HP:0001172	Abnormal thumb morphology	10324	KLHL41	ORPHA:171430
HP:0001172	Abnormal thumb morphology	56203	LMOD3	ORPHA:171430
HP:0001172	Abnormal thumb morphology	26227	PHGDH	OMIM:601815
HP:0001172	Abnormal thumb morphology	26227	PHGDH	ORPHA:79351
HP:0001172	Abnormal thumb morphology	84162	BLTP1	OMIM:617822
HP:0001172	Abnormal thumb morphology	202018	TAPT1	OMIM:616897
HP:0001172	Abnormal thumb morphology	2782	GNB1	OMIM:616973
HP:0001172	Abnormal thumb morphology	2201	FBN2	OMIM:121050
HP:0001172	Abnormal thumb morphology	7140	TNNT3	OMIM:618435
HP:0001172	Abnormal thumb morphology	7140	TNNT3	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7140	TNNT3	ORPHA:1146
HP:0001172	Abnormal thumb morphology	91869	RFT1	OMIM:612015
HP:0001172	Abnormal thumb morphology	4621	MYH3	OMIM:618436
HP:0001172	Abnormal thumb morphology	4621	MYH3	OMIM:193700
HP:0001172	Abnormal thumb morphology	4621	MYH3	ORPHA:1147
HP:0001172	Abnormal thumb morphology	4621	MYH3	ORPHA:1146
HP:0001172	Abnormal thumb morphology	3897	L1CAM	ORPHA:306617
HP:0001172	Abnormal thumb morphology	3897	L1CAM	OMIM:303350
HP:0001172	Abnormal thumb morphology	3897	L1CAM	OMIM:307000
HP:0001172	Abnormal thumb morphology	3897	L1CAM	ORPHA:2182
HP:0001172	Abnormal thumb morphology	388015	RTL1	ORPHA:96334
HP:0001172	Abnormal thumb morphology	8788	DLK1	ORPHA:96334
HP:0001172	Abnormal thumb morphology	55384	MEG3	ORPHA:96334
HP:0001172	Abnormal thumb morphology	2067	ERCC1	OMIM:610758
HP:0001172	Abnormal thumb morphology	9179	AP4M1	OMIM:612936
HP:0001172	Abnormal thumb morphology	7169	TPM2	OMIM:108120
HP:0001172	Abnormal thumb morphology	7169	TPM2	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7169	TPM2	ORPHA:1146
HP:0001172	Abnormal thumb morphology	126792	B3GALT6	ORPHA:536467
HP:0001172	Abnormal thumb morphology	50515	CHST11	OMIM:618167
HP:0001172	Abnormal thumb morphology	79868	ALG13	ORPHA:324422
HP:0001172	Abnormal thumb morphology	259232	NALCN	OMIM:616266
HP:0001172	Abnormal thumb morphology	259232	NALCN	ORPHA:1147
HP:0001172	Abnormal thumb morphology	259232	NALCN	ORPHA:1146
HP:0001172	Abnormal thumb morphology	23483	TGDS	OMIM:616145
HP:0001172	Abnormal thumb morphology	729920	CRPPA	OMIM:614643
HP:0001172	Abnormal thumb morphology	7136	TNNI2	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7136	TNNI2	ORPHA:1146
HP:0001172	Abnormal thumb morphology	10273	STUB1	ORPHA:412057
HP:0001172	Abnormal thumb morphology	4604	MYBPC1	ORPHA:1146
HP:0001172	Abnormal thumb morphology	10516	FBLN5	ORPHA:90348
HP:0001172	Abnormal thumb morphology	81857	MED25	ORPHA:464738
HP:0001172	Abnormal thumb morphology	57211	ADGRG6	OMIM:616503
HP:0001172	Abnormal thumb morphology	9939	RBM8A	ORPHA:3320
HP:0001172	Abnormal thumb morphology	9939	RBM8A	OMIM:274000
HP:0001172	Abnormal thumb morphology	29940	DSE	OMIM:615539
HP:0001172	Abnormal thumb morphology	23299	BICD2	OMIM:618291
HP:0001172	Abnormal thumb morphology	10195	ALG3	OMIM:601110
HP:0001172	Abnormal thumb morphology	7703	PCGF2	OMIM:618371
HP:0001172	Abnormal thumb morphology	10943	MSL3	OMIM:301032
HP:0001172	Abnormal thumb morphology	3977	LIFR	OMIM:601559
HP:0001172	Abnormal thumb morphology	9427	ECEL1	OMIM:615065
HP:0001172	Abnormal thumb morphology	6999	TDO2	OMIM:600627
HP:0001172	Abnormal thumb morphology	84896	ATAD1	OMIM:618011
HP:0001172	Abnormal thumb morphology	2036	EPB41L1	OMIM:614257
HP:0001172	Abnormal thumb morphology	51002	TPRKB	ORPHA:2065
HP:0001172	Abnormal thumb morphology	84942	WDR73	ORPHA:2065
HP:0001172	Abnormal thumb morphology	55644	OSGEP	ORPHA:2065
HP:0001172	Abnormal thumb morphology	57122	NUP107	ORPHA:2065
HP:0001172	Abnormal thumb morphology	10785	WDR4	ORPHA:2065
HP:0001172	Abnormal thumb morphology	55746	NUP133	ORPHA:2065
HP:0001172	Abnormal thumb morphology	112858	TP53RK	ORPHA:2065
HP:0001172	Abnormal thumb morphology	8270	LAGE3	ORPHA:2065
HP:0001172	Abnormal thumb morphology	9244	CRLF1	OMIM:272430
HP:0001172	Abnormal thumb morphology	7291	TWIST1	ORPHA:794
HP:0001172	Abnormal thumb morphology	9488	PIGB	OMIM:618580
HP:0001172	Abnormal thumb morphology	1749	DLX5	OMIM:183600
HP:0001172	Abnormal thumb morphology	4488	MSX2	OMIM:604757
HP:0001172	Abnormal thumb morphology	9469	CHST3	OMIM:245600
HP:0001172	Abnormal thumb morphology	26229	B3GAT3	OMIM:245600
HP:0001172	Abnormal thumb morphology	2317	FLNB	OMIM:150250
HP:0001172	Abnormal thumb morphology	79796	ALG9	ORPHA:79328
HP:0001172	Abnormal thumb morphology	22858	CILK1	OMIM:612651
HP:0001172	Abnormal thumb morphology	1954	MEGF8	OMIM:614976
HP:0001172	Abnormal thumb morphology	54928	BPNT2	OMIM:614078
HP:0001172	Abnormal thumb morphology	5281	PIGF	OMIM:619356
HP:0001172	Abnormal thumb morphology	1387	CREBBP	OMIM:180849
HP:0001172	Abnormal thumb morphology	2033	EP300	OMIM:180849
HP:0001172	Abnormal thumb morphology	3981	LIG4	ORPHA:235
HP:0001172	Abnormal thumb morphology	54888	NSUN2	ORPHA:235
HP:0001172	Abnormal thumb morphology	5980	REV3L	ORPHA:570
HP:0001172	Abnormal thumb morphology	23129	PLXND1	ORPHA:570
HP:0001172	Abnormal thumb morphology	10262	SF3B4	OMIM:154400
HP:0001172	Abnormal thumb morphology	10262	SF3B4	ORPHA:245
HP:0001172	Abnormal thumb morphology	9401	RECQL4	ORPHA:1225
HP:0001172	Abnormal thumb morphology	5925	RB1	ORPHA:1587
HP:0001172	Abnormal thumb morphology	2260	FGFR1	ORPHA:93258
HP:0001172	Abnormal thumb morphology	80144	FRAS1	OMIM:219000
HP:0001172	Abnormal thumb morphology	51715	RAB23	OMIM:201000
HP:0001172	Abnormal thumb morphology	22856	CHSY1	ORPHA:363417
HP:0001172	Abnormal thumb morphology	55012	PPP2R3C	OMIM:618419
HP:0001172	Abnormal thumb morphology	5053	PAH	ORPHA:2209
HP:0001172	Abnormal thumb morphology	124583	CANT1	OMIM:251450
HP:0001172	Abnormal thumb morphology	55280	CWF19L1	ORPHA:453521
HP:0001172	Abnormal thumb morphology	23476	BRD4	ORPHA:199
HP:0001172	Abnormal thumb morphology	9126	SMC3	ORPHA:199
HP:0001172	Abnormal thumb morphology	9126	SMC3	OMIM:610759
HP:0001172	Abnormal thumb morphology	8243	SMC1A	ORPHA:199
HP:0001172	Abnormal thumb morphology	8243	SMC1A	OMIM:300590
HP:0001172	Abnormal thumb morphology	25836	NIPBL	ORPHA:199
HP:0001172	Abnormal thumb morphology	25836	NIPBL	OMIM:122470
HP:0001172	Abnormal thumb morphology	55869	HDAC8	ORPHA:199
HP:0001172	Abnormal thumb morphology	55869	HDAC8	OMIM:300882
HP:0001172	Abnormal thumb morphology	5885	RAD21	ORPHA:199
HP:0001172	Abnormal thumb morphology	9361	LONP1	OMIM:600373
HP:0001172	Abnormal thumb morphology	579	NKX3-2	OMIM:613330
HP:0001172	Abnormal thumb morphology	145173	B3GLCT	OMIM:261540
HP:0001172	Abnormal thumb morphology	998	CDC42	ORPHA:487796
HP:0001172	Abnormal thumb morphology	998	CDC42	OMIM:616737
HP:0001172	Abnormal thumb morphology	22800	RRAS2	OMIM:618624
HP:0001172	Abnormal thumb morphology	3209	HOXA13	OMIM:140000
HP:0001172	Abnormal thumb morphology	3209	HOXA13	ORPHA:2438
HP:0001172	Abnormal thumb morphology	1836	SLC26A2	ORPHA:628
HP:0001172	Abnormal thumb morphology	157570	ESCO2	ORPHA:3103
HP:0001172	Abnormal thumb morphology	7547	ZIC3	OMIM:314390
HP:0001172	Abnormal thumb morphology	8314	BAP1	OMIM:619762
HP:0001172	Abnormal thumb morphology	6472	SHMT2	OMIM:619121
HP:0001172	Abnormal thumb morphology	29123	ANKRD11	ORPHA:261250
HP:0001172	Abnormal thumb morphology	1717	DHCR7	ORPHA:818
HP:0001172	Abnormal thumb morphology	1717	DHCR7	OMIM:270400
HP:0001172	Abnormal thumb morphology	118924	FRA10AC1	OMIM:620113
HP:0001172	Abnormal thumb morphology	51651	PTRH2	OMIM:616263
HP:0001172	Abnormal thumb morphology	51651	PTRH2	ORPHA:456312
HP:0001172	Abnormal thumb morphology	652	BMP4	ORPHA:139471
HP:0001172	Abnormal thumb morphology	55906	ZC4H2	OMIM:314580
HP:0001172	Abnormal thumb morphology	9241	NOG	OMIM:611377
HP:0001172	Abnormal thumb morphology	79087	ALG12	ORPHA:79324
HP:0001172	Abnormal thumb morphology	3756	KCNH1	OMIM:611816
HP:0001172	Abnormal thumb morphology	2626	GATA4	ORPHA:251071
HP:0001172	Abnormal thumb morphology	9775	EIF4A3	OMIM:268305
HP:0001172	Abnormal thumb morphology	8626	TP63	ORPHA:1896
HP:0001172	Abnormal thumb morphology	9419	CRIPT	OMIM:615789
HP:0001172	Abnormal thumb morphology	4247	MGAT2	OMIM:212066
HP:0001172	Abnormal thumb morphology	58499	ZNF462	OMIM:618619
HP:0001172	Abnormal thumb morphology	2316	FLNA	ORPHA:90650
HP:0001172	Abnormal thumb morphology	1889	ECE1	OMIM:613870
HP:0001172	Abnormal thumb morphology	10084	PQBP1	OMIM:309500
HP:0001172	Abnormal thumb morphology	4841	NONO	OMIM:300967
HP:0001172	Abnormal thumb morphology	6885	MAP3K7	ORPHA:1826
HP:0001172	Abnormal thumb morphology	5293	PIK3CD	ORPHA:221139
HP:0001172	Abnormal thumb morphology	90417	KNSTRN	ORPHA:221139
HP:0001172	Abnormal thumb morphology	2778	GNAS	ORPHA:79445
HP:0001172	Abnormal thumb morphology	5727	PTCH1	OMIM:109400
HP:0001172	Abnormal thumb morphology	23019	CNOT1	ORPHA:556955
HP:0001172	Abnormal thumb morphology	6651	SON	ORPHA:500150
HP:0001172	Abnormal thumb morphology	340419	RSPO2	OMIM:618022
HP:0001172	Abnormal thumb morphology	8452	CUL3	OMIM:619239
HP:0001172	Abnormal thumb morphology	5718	PSMD12	OMIM:617516
HP:0001172	Abnormal thumb morphology	54101	RIPK4	OMIM:263650
HP:0001172	Abnormal thumb morphology	54101	RIPK4	ORPHA:1234
HP:0001172	Abnormal thumb morphology	29980	DONSON	OMIM:251230
HP:0001172	Abnormal thumb morphology	1280	COL2A1	OMIM:271700
HP:0001172	Abnormal thumb morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001172	Abnormal thumb morphology	23028	KDM1A	OMIM:616728
HP:0001172	Abnormal thumb morphology	23028	KDM1A	ORPHA:477993
HP:0001172	Abnormal thumb morphology	29998	BICRA	OMIM:619325
HP:0001172	Abnormal thumb morphology	1723	DHODH	OMIM:263750
HP:0001172	Abnormal thumb morphology	526	ATP6V1B2	ORPHA:79499
HP:0001172	Abnormal thumb morphology	4038	LRP4	ORPHA:3258
HP:0001172	Abnormal thumb morphology	324	APC	ORPHA:3258
HP:0001172	Abnormal thumb morphology	3549	IHH	ORPHA:93388
HP:0001172	Abnormal thumb morphology	176	ACAN	ORPHA:435804
HP:0001172	Abnormal thumb morphology	176	ACAN	OMIM:165800
HP:0001172	Abnormal thumb morphology	4613	MYCN	OMIM:164280
HP:0001172	Abnormal thumb morphology	4613	MYCN	ORPHA:391641
HP:0001172	Abnormal thumb morphology	55636	CHD7	OMIM:214800
HP:0001172	Abnormal thumb morphology	91461	PKDCC	OMIM:618821
HP:0001172	Abnormal thumb morphology	80036	TRPM3	OMIM:620224
HP:0001172	Abnormal thumb morphology	7750	ZMYM2	OMIM:619522
HP:0001172	Abnormal thumb morphology	407975	MIR17HG	ORPHA:391646
HP:0001172	Abnormal thumb morphology	4256	MGP	OMIM:245150
HP:0001172	Abnormal thumb morphology	84823	LMNB2	OMIM:616540
HP:0001172	Abnormal thumb morphology	4053	LTBP2	ORPHA:3449
HP:0001172	Abnormal thumb morphology	81794	ADAMTS10	ORPHA:3449
HP:0001172	Abnormal thumb morphology	374969	SVBP	OMIM:618569
HP:0001172	Abnormal thumb morphology	26100	WIPI2	OMIM:618453
HP:0001172	Abnormal thumb morphology	2702	GJA5	OMIM:612474
HP:0001172	Abnormal thumb morphology	2703	GJA8	OMIM:612474
HP:0001172	Abnormal thumb morphology	71	ACTG1	ORPHA:2995
HP:0001172	Abnormal thumb morphology	60	ACTB	ORPHA:2995
HP:0001172	Abnormal thumb morphology	8260	NAA10	ORPHA:568
HP:0001172	Abnormal thumb morphology	54880	BCOR	ORPHA:568
HP:0001172	Abnormal thumb morphology	6910	TBX5	OMIM:142900
HP:0001172	Abnormal thumb morphology	6135	RPL11	ORPHA:124
HP:0001172	Abnormal thumb morphology	6138	RPL15	ORPHA:124
HP:0001172	Abnormal thumb morphology	6229	RPS24	ORPHA:124
HP:0001172	Abnormal thumb morphology	6125	RPL5	ORPHA:124
HP:0001172	Abnormal thumb morphology	6204	RPS10	ORPHA:124
HP:0001172	Abnormal thumb morphology	6224	RPS20	ORPHA:124
HP:0001172	Abnormal thumb morphology	6165	RPL35A	ORPHA:124
HP:0001172	Abnormal thumb morphology	2623	GATA1	ORPHA:124
HP:0001172	Abnormal thumb morphology	6223	RPS19	ORPHA:124
HP:0001172	Abnormal thumb morphology	6223	RPS19	OMIM:105650
HP:0001172	Abnormal thumb morphology	6232	RPS27	ORPHA:124
HP:0001172	Abnormal thumb morphology	6231	RPS26	ORPHA:124
HP:0001172	Abnormal thumb morphology	11224	RPL35	ORPHA:124
HP:0001172	Abnormal thumb morphology	6160	RPL31	ORPHA:124
HP:0001172	Abnormal thumb morphology	6218	RPS17	ORPHA:124
HP:0001172	Abnormal thumb morphology	6201	RPS7	ORPHA:124
HP:0001172	Abnormal thumb morphology	6155	RPL27	ORPHA:124
HP:0001172	Abnormal thumb morphology	6154	RPL26	ORPHA:124
HP:0001172	Abnormal thumb morphology	6210	RPS15A	ORPHA:124
HP:0001172	Abnormal thumb morphology	90121	TSR2	ORPHA:124
HP:0001172	Abnormal thumb morphology	6141	RPL18	ORPHA:124
HP:0001172	Abnormal thumb morphology	6235	RPS29	ORPHA:124
HP:0001172	Abnormal thumb morphology	6234	RPS28	ORPHA:124
HP:0001172	Abnormal thumb morphology	51816	ADA2	ORPHA:124
HP:0001172	Abnormal thumb morphology	1855	DVL1	OMIM:616331
HP:0001172	Abnormal thumb morphology	10992	SF3B2	OMIM:164210
HP:0001172	Abnormal thumb morphology	27152	INTU	OMIM:617926
HP:0001172	Abnormal thumb morphology	2535	FZD2	OMIM:164745
HP:0001172	Abnormal thumb morphology	2535	FZD2	ORPHA:93328
HP:0001172	Abnormal thumb morphology	90	ACVR1	OMIM:135100
HP:0001172	Abnormal thumb morphology	57020	VPS35L	OMIM:619135
HP:0001172	Abnormal thumb morphology	10847	SRCAP	OMIM:136140
HP:0001172	Abnormal thumb morphology	6662	SOX9	OMIM:114290
HP:0001172	Abnormal thumb morphology	5116	PCNT	OMIM:210720
HP:0001172	Abnormal thumb morphology	26040	SETBP1	OMIM:269150
HP:0001172	Abnormal thumb morphology	26040	SETBP1	ORPHA:798
HP:0001172	Abnormal thumb morphology	3911	LAMA5	OMIM:620076
HP:0001172	Abnormal thumb morphology	9896	FIG4	ORPHA:3472
HP:0001172	Abnormal thumb morphology	55697	VAC14	ORPHA:3472
HP:0001172	Abnormal thumb morphology	7204	TRIO	ORPHA:476126
HP:0001172	Abnormal thumb morphology	23394	ADNP	ORPHA:404448
HP:0001172	Abnormal thumb morphology	6477	SIAH1	OMIM:619314
HP:0001172	Abnormal thumb morphology	10059	DNM1L	OMIM:614388
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:251028
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:251019
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:576283
HP:0001172	Abnormal thumb morphology	650	BMP2	ORPHA:261295
HP:0001172	Abnormal thumb morphology	3020	H3-3A	OMIM:619720
HP:0001172	Abnormal thumb morphology	3021	H3-3B	OMIM:619721
HP:0001172	Abnormal thumb morphology	4920	ROR2	OMIM:113000
HP:0001172	Abnormal thumb morphology	4920	ROR2	ORPHA:1507
HP:0001172	Abnormal thumb morphology	4920	ROR2	OMIM:268310
HP:0001172	Abnormal thumb morphology	8239	USP9X	OMIM:300919
HP:0001172	Abnormal thumb morphology	3248	HPGD	ORPHA:217059
HP:0001172	Abnormal thumb morphology	2239	GPC4	OMIM:301026
HP:0001172	Abnormal thumb morphology	2239	GPC4	ORPHA:2662
HP:0001172	Abnormal thumb morphology	2239	GPC4	ORPHA:373
HP:0001172	Abnormal thumb morphology	2239	GPC4	OMIM:312870
HP:0001172	Abnormal thumb morphology	51132	RLIM	OMIM:300978
HP:0001172	Abnormal thumb morphology	64359	NXN	OMIM:618529
HP:0001172	Abnormal thumb morphology	64359	NXN	ORPHA:1507
HP:0001172	Abnormal thumb morphology	92579	G6PC3	OMIM:612541
HP:0001172	Abnormal thumb morphology	64131	XYLT1	OMIM:615777
HP:0001172	Abnormal thumb morphology	64131	XYLT1	ORPHA:370930
HP:0001172	Abnormal thumb morphology	29920	PYCR2	ORPHA:481152
HP:0001172	Abnormal thumb morphology	8726	EED	OMIM:617561
HP:0001172	Abnormal thumb morphology	8726	EED	ORPHA:3447
HP:0001172	Abnormal thumb morphology	2186	BPTF	ORPHA:529962
HP:0001172	Abnormal thumb morphology	4212	MEIS2	OMIM:600987
HP:0001172	Abnormal thumb morphology	5728	PTEN	ORPHA:79076
HP:0001172	Abnormal thumb morphology	5728	PTEN	ORPHA:109
HP:0001172	Abnormal thumb morphology	657	BMPR1A	ORPHA:79076
HP:0001172	Abnormal thumb morphology	2254	FGF9	ORPHA:3237
HP:0001172	Abnormal thumb morphology	2254	FGF9	OMIM:612961
HP:0001172	Abnormal thumb morphology	23126	POGZ	OMIM:616364
HP:0001172	Abnormal thumb morphology	51633	OTUD6B	OMIM:617452
HP:0001172	Abnormal thumb morphology	51633	OTUD6B	ORPHA:505237
HP:0001172	Abnormal thumb morphology	5593	PRKG2	OMIM:619638
HP:0001172	Abnormal thumb morphology	79753	SNIP1	OMIM:614501
HP:0001172	Abnormal thumb morphology	285362	SUMF1	OMIM:272200
HP:0001172	Abnormal thumb morphology	285362	SUMF1	ORPHA:585
HP:0001172	Abnormal thumb morphology	79759	ZNF668	OMIM:620194
HP:0001172	Abnormal thumb morphology	10236	HNRNPR	OMIM:620073
HP:0001172	Abnormal thumb morphology	284252	KCTD1	OMIM:181270
HP:0001172	Abnormal thumb morphology	1857	DVL3	OMIM:616894
HP:0001172	Abnormal thumb morphology	56098	PCDHGC4	OMIM:619880
HP:0001172	Abnormal thumb morphology	2719	GPC3	ORPHA:373
HP:0001172	Abnormal thumb morphology	2719	GPC3	OMIM:312870
HP:0001172	Abnormal thumb morphology	4123	MAN2C1	OMIM:619775
HP:0001172	Abnormal thumb morphology	60529	ALX4	ORPHA:60015
HP:0001172	Abnormal thumb morphology	79989	IFT56	OMIM:619534
HP:0001172	Abnormal thumb morphology	2146	EZH2	OMIM:277590
HP:0001172	Abnormal thumb morphology	2146	EZH2	ORPHA:3447
HP:0001172	Abnormal thumb morphology	7474	WNT5A	OMIM:180700
HP:0001172	Abnormal thumb morphology	64324	NSD1	ORPHA:3447
HP:0001172	Abnormal thumb morphology	23512	SUZ12	ORPHA:3447
HP:0001172	Abnormal thumb morphology	23404	EXOSC2	OMIM:617763
HP:0001172	Abnormal thumb morphology	5587	PRKD1	OMIM:617364
HP:0001172	Abnormal thumb morphology	3636	INPPL1	ORPHA:2746
HP:0001172	Abnormal thumb morphology	55690	PACS1	ORPHA:329224
HP:0001172	Abnormal thumb morphology	22907	DHX30	OMIM:617804
HP:0001172	Abnormal thumb morphology	865	CBFB	OMIM:620099
HP:0001172	Abnormal thumb morphology	5745	PTH1R	OMIM:600002
HP:0001172	Abnormal thumb morphology	128	ADH5	OMIM:619151
HP:0001172	Abnormal thumb morphology	57465	TBC1D24	OMIM:220500
HP:0001172	Abnormal thumb morphology	3782	KCNN3	OMIM:618658
HP:0001172	Abnormal thumb morphology	4883	NPR3	OMIM:619543
HP:0001172	Abnormal thumb morphology	23522	KAT6B	OMIM:603736
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:607706
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:214400
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:608340
HP:0001178	Ulnar claw	5376	PMP22	OMIM:118220
HP:0001178	Ulnar claw	5376	PMP22	OMIM:145900
HP:0001178	Ulnar claw	4747	NEFL	OMIM:607684
HP:0001178	Ulnar claw	3315	HSPB1	OMIM:606595
HP:0001178	Ulnar claw	4359	MPZ	OMIM:118200
HP:0001178	Ulnar claw	4359	MPZ	OMIM:145900
HP:0001178	Ulnar claw	1959	EGR2	OMIM:145900
HP:0001178	Ulnar claw	57716	PRX	OMIM:145900
HP:0001178	Ulnar claw	4358	MPV17	OMIM:618400
HP:0001178	Ulnar claw	81846	SBF2	OMIM:604563
HP:0011391	Morphological abnormality of the nerves of the inner ear	84196	USP48	OMIM:620227
HP:0011391	Morphological abnormality of the nerves of the inner ear	9131	AIFM1	OMIM:300614
HP:0011395	Aplasia/Hypoplasia of the cochlea	1663	DDX11	OMIM:613398
HP:0011395	Aplasia/Hypoplasia of the cochlea	2138	EYA1	OMIM:166780
HP:0011395	Aplasia/Hypoplasia of the cochlea	2138	EYA1	OMIM:602588
HP:0011395	Aplasia/Hypoplasia of the cochlea	2138	EYA1	OMIM:113650
HP:0011395	Aplasia/Hypoplasia of the cochlea	2138	EYA1	ORPHA:107
HP:0011395	Aplasia/Hypoplasia of the cochlea	3766	KCNJ10	ORPHA:705
HP:0011395	Aplasia/Hypoplasia of the cochlea	2299	FOXI1	ORPHA:705
HP:0011395	Aplasia/Hypoplasia of the cochlea	5172	SLC26A4	ORPHA:705
HP:0011395	Aplasia/Hypoplasia of the cochlea	6495	SIX1	OMIM:113650
HP:0011395	Aplasia/Hypoplasia of the cochlea	6495	SIX1	ORPHA:107
HP:0011395	Aplasia/Hypoplasia of the cochlea	147912	SIX5	ORPHA:107
HP:0011395	Aplasia/Hypoplasia of the cochlea	80000	GREB1L	OMIM:619274
HP:0011396	Abnormality of the cochlear nerve	84196	USP48	OMIM:620227
HP:0011396	Abnormality of the cochlear nerve	9131	AIFM1	OMIM:300614
HP:0011397	Abnormality of the dorsal column of the spinal cord	23064	SETX	OMIM:602433
HP:0011397	Abnormality of the dorsal column of the spinal cord	6310	ATXN1	OMIM:164400
HP:0011397	Abnormality of the dorsal column of the spinal cord	215	ABCD1	ORPHA:139399
HP:0011397	Abnormality of the dorsal column of the spinal cord	55157	DARS2	ORPHA:137898
HP:0011397	Abnormality of the dorsal column of the spinal cord	84188	FAR1	ORPHA:447753
HP:0011397	Abnormality of the dorsal column of the spinal cord	5832	ALDH18A1	ORPHA:447753
HP:0001252	Hypotonia	50801	KCNK4	OMIM:618381
HP:0001252	Hypotonia	7528	YY1	ORPHA:506358
HP:0001252	Hypotonia	7528	YY1	OMIM:617557
HP:0001252	Hypotonia	5518	PPP2R1A	OMIM:616362
HP:0001252	Hypotonia	5518	PPP2R1A	ORPHA:457284
HP:0001252	Hypotonia	55768	NGLY1	OMIM:615273
HP:0001252	Hypotonia	55768	NGLY1	ORPHA:404454
HP:0001252	Hypotonia	27107	ZBTB11	OMIM:618383
HP:0001252	Hypotonia	2892	GRIA3	ORPHA:364028
HP:0001252	Hypotonia	11154	AP4S1	OMIM:614067
HP:0001252	Hypotonia	11154	AP4S1	ORPHA:280763
HP:0001252	Hypotonia	23126	POGZ	OMIM:616364
HP:0001252	Hypotonia	23126	POGZ	ORPHA:468678
HP:0001252	Hypotonia	92335	STRADA	ORPHA:500533
HP:0001252	Hypotonia	92335	STRADA	OMIM:611087
HP:0001252	Hypotonia	6418	SET	OMIM:618106
HP:0001252	Hypotonia	285175	UNC80	OMIM:616801
HP:0001252	Hypotonia	773	CACNA1A	ORPHA:2131
HP:0001252	Hypotonia	6507	SLC1A3	ORPHA:2131
HP:0001252	Hypotonia	477	ATP1A2	ORPHA:2131
HP:0001252	Hypotonia	478	ATP1A3	ORPHA:2131
HP:0001252	Hypotonia	9499	MYOT	ORPHA:266
HP:0001252	Hypotonia	4125	MAN2B1	ORPHA:309282
HP:0001252	Hypotonia	2548	GAA	ORPHA:308552
HP:0001252	Hypotonia	23030	KDM4B	OMIM:619320
HP:0001252	Hypotonia	283489	CHAMP1	OMIM:616579
HP:0001252	Hypotonia	200424	TET3	OMIM:618798
HP:0001252	Hypotonia	23431	AP4E1	OMIM:613744
HP:0001252	Hypotonia	23431	AP4E1	ORPHA:280763
HP:0001252	Hypotonia	271	AMPD2	OMIM:615809
HP:0001252	Hypotonia	10717	AP4B1	ORPHA:280763
HP:0001252	Hypotonia	9179	AP4M1	ORPHA:280763
HP:0001252	Hypotonia	4204	MECP2	OMIM:300055
HP:0001252	Hypotonia	4204	MECP2	OMIM:300260
HP:0001252	Hypotonia	8925	HERC1	ORPHA:457359
HP:0001252	Hypotonia	8242	KDM5C	OMIM:300534
HP:0001252	Hypotonia	818	CAMK2G	OMIM:618522
HP:0001252	Hypotonia	10463	SLC30A9	OMIM:617595
HP:0001252	Hypotonia	10735	STAG2	ORPHA:521258
HP:0001252	Hypotonia	5455	POU3F3	OMIM:618604
HP:0001252	Hypotonia	1778	DYNC1H1	OMIM:614563
HP:0001252	Hypotonia	29940	DSE	OMIM:615539
HP:0001252	Hypotonia	157680	VPS13B	OMIM:216550
HP:0001252	Hypotonia	7703	PCGF2	OMIM:618371
HP:0001252	Hypotonia	171023	ASXL1	ORPHA:97297
HP:0001252	Hypotonia	1760	DMPK	ORPHA:589821
HP:0001252	Hypotonia	5528	PPP2R5D	OMIM:616355
HP:0001252	Hypotonia	57178	ZMIZ1	OMIM:618659
HP:0001252	Hypotonia	5813	PURA	ORPHA:438216
HP:0001252	Hypotonia	23314	SATB2	OMIM:612313
HP:0001252	Hypotonia	5081	PAX7	OMIM:618578
HP:0001252	Hypotonia	2719	GPC3	OMIM:312870
HP:0001252	Hypotonia	2239	GPC4	OMIM:312870
HP:0001252	Hypotonia	64132	XYLT2	ORPHA:85194
HP:0001252	Hypotonia	9230	RAB11B	OMIM:617807
HP:0001252	Hypotonia	2673	GFPT1	OMIM:608931
HP:0001252	Hypotonia	1139	CHRNA7	ORPHA:199318
HP:0001252	Hypotonia	1139	CHRNA7	OMIM:612001
HP:0001252	Hypotonia	1134	CHRNA1	OMIM:608930
HP:0001252	Hypotonia	55209	SETD5	ORPHA:404440
HP:0001252	Hypotonia	2731	GLDC	OMIM:605899
HP:0001252	Hypotonia	275	AMT	OMIM:605899
HP:0001252	Hypotonia	23322	RPGRIP1L	ORPHA:220497
HP:0001252	Hypotonia	23322	RPGRIP1L	ORPHA:1454
HP:0001252	Hypotonia	4867	NPHP1	ORPHA:220497
HP:0001252	Hypotonia	4867	NPHP1	OMIM:609583
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:220497
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:2318
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:475
HP:0001252	Hypotonia	65062	TMEM237	OMIM:614424
HP:0001252	Hypotonia	27245	AHDC1	ORPHA:412069
HP:0001252	Hypotonia	27245	AHDC1	OMIM:615829
HP:0001252	Hypotonia	84466	MEGF10	OMIM:614399
HP:0001252	Hypotonia	54806	AHI1	ORPHA:220493
HP:0001252	Hypotonia	54806	AHI1	ORPHA:475
HP:0001252	Hypotonia	54806	AHI1	OMIM:608629
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:220493
HP:0001252	Hypotonia	56623	INPP5E	OMIM:213300
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:75858
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:1454
HP:0001252	Hypotonia	56623	INPP5E	OMIM:610156
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:475
HP:0001252	Hypotonia	153241	CEP120	ORPHA:220493
HP:0001252	Hypotonia	153241	CEP120	OMIM:617761
HP:0001252	Hypotonia	153241	CEP120	ORPHA:475
HP:0001252	Hypotonia	95681	CEP41	ORPHA:220493
HP:0001252	Hypotonia	95681	CEP41	ORPHA:475
HP:0001252	Hypotonia	95681	CEP41	OMIM:614464
HP:0001252	Hypotonia	79693	YRDC	OMIM:619609
HP:0001252	Hypotonia	7253	TSHR	ORPHA:90673
HP:0001252	Hypotonia	7253	TSHR	ORPHA:95720
HP:0001252	Hypotonia	7253	TSHR	ORPHA:95713
HP:0001252	Hypotonia	7252	TSHB	ORPHA:90674
HP:0001252	Hypotonia	7252	TSHB	OMIM:275100
HP:0001252	Hypotonia	8029	CUBN	ORPHA:35858
HP:0001252	Hypotonia	81693	AMN	ORPHA:35858
HP:0001252	Hypotonia	55687	TRMU	OMIM:613070
HP:0001252	Hypotonia	3190	HNRNPK	OMIM:616580
HP:0001252	Hypotonia	3190	HNRNPK	ORPHA:453504
HP:0001252	Hypotonia	3190	HNRNPK	ORPHA:352665
HP:0001252	Hypotonia	54453	RIN2	OMIM:613075
HP:0001252	Hypotonia	79029	AFG2B	OMIM:619616
HP:0001252	Hypotonia	7436	VLDLR	OMIM:224050
HP:0001252	Hypotonia	7436	VLDLR	ORPHA:1766
HP:0001252	Hypotonia	7386	UQCRFS1	OMIM:618775
HP:0001252	Hypotonia	790955	UQCC3	OMIM:616111
HP:0001252	Hypotonia	3340	NDST1	OMIM:616116
HP:0001252	Hypotonia	4747	NEFL	ORPHA:101085
HP:0001252	Hypotonia	11285	B4GALT7	OMIM:130070
HP:0001252	Hypotonia	11285	B4GALT7	ORPHA:75496
HP:0001252	Hypotonia	1187	CLCNKA	OMIM:613090
HP:0001252	Hypotonia	1187	CLCNKA	ORPHA:89938
HP:0001252	Hypotonia	1188	CLCNKB	OMIM:613090
HP:0001252	Hypotonia	1188	CLCNKB	ORPHA:89938
HP:0001252	Hypotonia	8493	PPM1D	OMIM:617450
HP:0001252	Hypotonia	55621	TRMT1	OMIM:618302
HP:0001252	Hypotonia	5593	PRKG2	OMIM:619638
HP:0001252	Hypotonia	5593	PRKG2	OMIM:619636
HP:0001252	Hypotonia	9354	UBE4A	OMIM:619639
HP:0001252	Hypotonia	5604	MAP2K1	OMIM:615279
HP:0001252	Hypotonia	5604	MAP2K1	ORPHA:1340
HP:0001252	Hypotonia	2517	FUCA1	ORPHA:349
HP:0001252	Hypotonia	2203	FBP1	ORPHA:348
HP:0001252	Hypotonia	2203	FBP1	OMIM:229700
HP:0001252	Hypotonia	79718	TBL1XR1	OMIM:602342
HP:0001252	Hypotonia	79718	TBL1XR1	OMIM:616944
HP:0001252	Hypotonia	79718	TBL1XR1	ORPHA:487825
HP:0001252	Hypotonia	5605	MAP2K2	OMIM:615280
HP:0001252	Hypotonia	5605	MAP2K2	ORPHA:1340
HP:0001252	Hypotonia	54828	BCAS3	OMIM:619641
HP:0001252	Hypotonia	253959	RALGAPA1	OMIM:618797
HP:0001252	Hypotonia	11041	B4GAT1	OMIM:615287
HP:0001252	Hypotonia	11041	B4GAT1	ORPHA:899
HP:0001252	Hypotonia	163175	LGI4	OMIM:617468
HP:0001252	Hypotonia	163175	LGI4	ORPHA:2680
HP:0001252	Hypotonia	79971	WLS	OMIM:619648
HP:0001252	Hypotonia	56652	TWNK	OMIM:271245
HP:0001252	Hypotonia	4208	MEF2C	ORPHA:228384
HP:0001252	Hypotonia	4208	MEF2C	OMIM:613443
HP:0001252	Hypotonia	4000	LMNA	ORPHA:157973
HP:0001252	Hypotonia	4000	LMNA	ORPHA:90153
HP:0001252	Hypotonia	4000	LMNA	OMIM:613205
HP:0001252	Hypotonia	4000	LMNA	ORPHA:98855
HP:0001252	Hypotonia	4000	LMNA	ORPHA:98853
HP:0001252	Hypotonia	6843	VAMP1	OMIM:618323
HP:0001252	Hypotonia	6843	VAMP1	ORPHA:98914
HP:0001252	Hypotonia	197258	FCSK	OMIM:618324
HP:0001252	Hypotonia	5836	PYGL	ORPHA:369
HP:0001252	Hypotonia	58497	PRUNE1	OMIM:617481
HP:0001252	Hypotonia	1523	CUX1	OMIM:618330
HP:0001252	Hypotonia	4921	DDR2	OMIM:271665
HP:0001252	Hypotonia	3155	HMGCL	ORPHA:20
HP:0001252	Hypotonia	3155	HMGCL	OMIM:246450
HP:0001252	Hypotonia	7915	ALDH5A1	ORPHA:22
HP:0001252	Hypotonia	7915	ALDH5A1	OMIM:271980
HP:0001252	Hypotonia	4598	MVK	ORPHA:29
HP:0001252	Hypotonia	4598	MVK	OMIM:610377
HP:0001252	Hypotonia	10564	ARFGEF2	OMIM:608097
HP:0001252	Hypotonia	55746	NUP133	OMIM:618349
HP:0001252	Hypotonia	55746	NUP133	ORPHA:2065
HP:0001252	Hypotonia	51259	TMEM216	OMIM:608091
HP:0001252	Hypotonia	51259	TMEM216	ORPHA:2318
HP:0001252	Hypotonia	51259	TMEM216	ORPHA:2754
HP:0001252	Hypotonia	2671	GFER	ORPHA:330054
HP:0001252	Hypotonia	2200	FBN1	ORPHA:284979
HP:0001252	Hypotonia	2200	FBN1	OMIM:616914
HP:0001252	Hypotonia	2200	FBN1	ORPHA:2462
HP:0001252	Hypotonia	5515	PPP2CA	OMIM:618354
HP:0001252	Hypotonia	23114	NFASC	OMIM:618356
HP:0001252	Hypotonia	116461	TSEN15	OMIM:617026
HP:0001252	Hypotonia	5660	PSAP	OMIM:611721
HP:0001252	Hypotonia	5660	PSAP	OMIM:249900
HP:0001252	Hypotonia	5660	PSAP	ORPHA:139406
HP:0001252	Hypotonia	51114	ZDHHC9	ORPHA:776
HP:0001252	Hypotonia	65109	UPF3B	ORPHA:776
HP:0001252	Hypotonia	65109	UPF3B	OMIM:300676
HP:0001252	Hypotonia	6774	STAT3	ORPHA:99885
HP:0001252	Hypotonia	2645	GCK	ORPHA:99885
HP:0001252	Hypotonia	3651	PDX1	ORPHA:99885
HP:0001252	Hypotonia	3630	INS	ORPHA:99885
HP:0001252	Hypotonia	346171	ZFP57	ORPHA:99886
HP:0001252	Hypotonia	57061	HYMAI	ORPHA:99886
HP:0001252	Hypotonia	5325	PLAGL1	ORPHA:99886
HP:0001252	Hypotonia	57190	SELENON	OMIM:602771
HP:0001252	Hypotonia	57190	SELENON	ORPHA:2020
HP:0001252	Hypotonia	79709	COLGALT1	OMIM:618360
HP:0001252	Hypotonia	473	RERE	ORPHA:494344
HP:0001252	Hypotonia	473	RERE	OMIM:616975
HP:0001252	Hypotonia	473	RERE	ORPHA:1606
HP:0001252	Hypotonia	7846	TUBA1A	ORPHA:467166
HP:0001252	Hypotonia	7846	TUBA1A	OMIM:611603
HP:0001252	Hypotonia	7846	TUBA1A	ORPHA:171680
HP:0001252	Hypotonia	22930	RAB3GAP1	OMIM:600118
HP:0001252	Hypotonia	22930	RAB3GAP1	ORPHA:2510
HP:0001252	Hypotonia	51434	ANAPC7	OMIM:619699
HP:0001252	Hypotonia	7468	NSD2	OMIM:619695
HP:0001252	Hypotonia	7468	NSD2	ORPHA:280
HP:0001252	Hypotonia	267010	RNU12	OMIM:620208
HP:0001252	Hypotonia	64856	VWA1	OMIM:619216
HP:0001252	Hypotonia	3054	HCFC1	OMIM:309541
HP:0001252	Hypotonia	2019	EN1	OMIM:619218
HP:0001252	Hypotonia	51608	GET4	OMIM:620200
HP:0001252	Hypotonia	1277	COL1A1	OMIM:130060
HP:0001252	Hypotonia	1277	COL1A1	ORPHA:1899
HP:0001252	Hypotonia	1277	COL1A1	ORPHA:287
HP:0001252	Hypotonia	7086	TKT	OMIM:617044
HP:0001252	Hypotonia	7086	TKT	ORPHA:488618
HP:0001252	Hypotonia	8883	NAE1	OMIM:620210
HP:0001252	Hypotonia	220296	HEPACAM	OMIM:613926
HP:0001252	Hypotonia	3028	HSD17B10	ORPHA:391428
HP:0001252	Hypotonia	3028	HSD17B10	OMIM:300438
HP:0001252	Hypotonia	83480	PUS3	OMIM:617051
HP:0001252	Hypotonia	84265	POLR3GL	OMIM:619234
HP:0001252	Hypotonia	5913	RAPSN	OMIM:618388
HP:0001252	Hypotonia	5913	RAPSN	OMIM:616326
HP:0001252	Hypotonia	3032	HADHB	ORPHA:746
HP:0001252	Hypotonia	3030	HADHA	ORPHA:746
HP:0001252	Hypotonia	3030	HADHA	ORPHA:5
HP:0001252	Hypotonia	3030	HADHA	OMIM:609015
HP:0001252	Hypotonia	3030	HADHA	OMIM:609016
HP:0001252	Hypotonia	31	ACACA	OMIM:613933
HP:0001252	Hypotonia	2218	FKTN	OMIM:253800
HP:0001252	Hypotonia	2218	FKTN	ORPHA:272
HP:0001252	Hypotonia	2218	FKTN	OMIM:611588
HP:0001252	Hypotonia	2218	FKTN	ORPHA:588
HP:0001252	Hypotonia	2218	FKTN	OMIM:236670
HP:0001252	Hypotonia	2218	FKTN	ORPHA:899
HP:0001252	Hypotonia	2218	FKTN	OMIM:613152
HP:0001252	Hypotonia	80036	TRPM3	OMIM:620224
HP:0001252	Hypotonia	1457	CSNK2A1	OMIM:617062
HP:0001252	Hypotonia	7204	TRIO	OMIM:617061
HP:0001252	Hypotonia	9325	TRIP4	OMIM:617066
HP:0001252	Hypotonia	203068	TUBB	OMIM:156610
HP:0001252	Hypotonia	23112	TNRC6B	OMIM:619243
HP:0001252	Hypotonia	91875	TTC5	OMIM:619244
HP:0001252	Hypotonia	5625	PRODH	OMIM:239500
HP:0001252	Hypotonia	10551	AGR2	OMIM:620233
HP:0001252	Hypotonia	126792	B3GALT6	OMIM:271640
HP:0001252	Hypotonia	126792	B3GALT6	ORPHA:536467
HP:0001252	Hypotonia	126792	B3GALT6	OMIM:615349
HP:0001252	Hypotonia	5824	PEX19	ORPHA:772
HP:0001252	Hypotonia	5824	PEX19	ORPHA:44
HP:0001252	Hypotonia	5824	PEX19	OMIM:614886
HP:0001252	Hypotonia	5828	PEX2	ORPHA:772
HP:0001252	Hypotonia	5828	PEX2	ORPHA:44
HP:0001252	Hypotonia	5828	PEX2	OMIM:614866
HP:0001252	Hypotonia	8799	PEX11B	ORPHA:772
HP:0001252	Hypotonia	8799	PEX11B	ORPHA:44
HP:0001252	Hypotonia	5830	PEX5	ORPHA:772
HP:0001252	Hypotonia	5830	PEX5	ORPHA:44
HP:0001252	Hypotonia	5830	PEX5	OMIM:214110
HP:0001252	Hypotonia	5189	PEX1	ORPHA:772
HP:0001252	Hypotonia	5189	PEX1	ORPHA:44
HP:0001252	Hypotonia	5189	PEX1	OMIM:214100
HP:0001252	Hypotonia	5264	PHYH	ORPHA:773
HP:0001252	Hypotonia	5191	PEX7	ORPHA:773
HP:0001252	Hypotonia	51594	NBAS	OMIM:614800
HP:0001252	Hypotonia	8831	SYNGAP1	OMIM:612621
HP:0001252	Hypotonia	8831	SYNGAP1	ORPHA:1942
HP:0001252	Hypotonia	8831	SYNGAP1	ORPHA:544254
HP:0001252	Hypotonia	54187	NANS	OMIM:610442
HP:0001252	Hypotonia	779	CACNA1S	OMIM:620246
HP:0001252	Hypotonia	779	CACNA1S	OMIM:170400
HP:0001252	Hypotonia	81615	TMEM163	OMIM:620243
HP:0001252	Hypotonia	10079	ATP9A	OMIM:620242
HP:0001252	Hypotonia	124093	CCDC78	OMIM:614807
HP:0001252	Hypotonia	2801	GOLGA2	OMIM:620240
HP:0001252	Hypotonia	4860	PNP	ORPHA:760
HP:0001252	Hypotonia	4860	PNP	OMIM:613179
HP:0001252	Hypotonia	56947	MFF	OMIM:617086
HP:0001252	Hypotonia	5256	PHKA2	OMIM:306000
HP:0001252	Hypotonia	5256	PHKA2	ORPHA:264580
HP:0001252	Hypotonia	25886	POC1A	OMIM:614813
HP:0001252	Hypotonia	168667	BMPER	OMIM:608022
HP:0001252	Hypotonia	64374	SIL1	OMIM:248800
HP:0001252	Hypotonia	64374	SIL1	ORPHA:559
HP:0001252	Hypotonia	2294	FOXF1	OMIM:265380
HP:0001252	Hypotonia	8450	CUL4B	OMIM:300354
HP:0001252	Hypotonia	26960	NBEA	OMIM:619157
HP:0001252	Hypotonia	6309	SC5D	ORPHA:46059
HP:0001252	Hypotonia	6309	SC5D	OMIM:607330
HP:0001252	Hypotonia	26128	KIFBP	OMIM:609460
HP:0001252	Hypotonia	26128	KIFBP	ORPHA:66629
HP:0001252	Hypotonia	25821	MTO1	OMIM:614702
HP:0001252	Hypotonia	79581	SLC52A2	OMIM:614707
HP:0001252	Hypotonia	64324	NSD1	ORPHA:821
HP:0001252	Hypotonia	64324	NSD1	OMIM:117550
HP:0001252	Hypotonia	29072	SETD2	ORPHA:821
HP:0001252	Hypotonia	29072	SETD2	OMIM:620155
HP:0001252	Hypotonia	10297	APC2	ORPHA:821
HP:0001252	Hypotonia	10297	APC2	OMIM:618677
HP:0001252	Hypotonia	6311	ATXN2	OMIM:183090
HP:0001252	Hypotonia	6392	SDHD	OMIM:619167
HP:0001252	Hypotonia	55788	LMBRD1	OMIM:277380
HP:0001252	Hypotonia	55788	LMBRD1	ORPHA:79284
HP:0001252	Hypotonia	9640	ZNF592	ORPHA:83472
HP:0001252	Hypotonia	224	ALDH3A2	ORPHA:816
HP:0001252	Hypotonia	2314	FLII	ORPHA:819
HP:0001252	Hypotonia	23096	IQSEC2	ORPHA:819
HP:0001252	Hypotonia	23096	IQSEC2	ORPHA:397933
HP:0001252	Hypotonia	1717	DHCR7	ORPHA:818
HP:0001252	Hypotonia	1717	DHCR7	OMIM:270400
HP:0001252	Hypotonia	150468	CKAP2L	ORPHA:3255
HP:0001252	Hypotonia	5979	RET	ORPHA:99803
HP:0001252	Hypotonia	5979	RET	OMIM:162300
HP:0001252	Hypotonia	429	ASCL1	ORPHA:99803
HP:0001252	Hypotonia	8929	PHOX2B	ORPHA:99803
HP:0001252	Hypotonia	8929	PHOX2B	ORPHA:661
HP:0001252	Hypotonia	26153	KIF26A	OMIM:620156
HP:0001252	Hypotonia	9382	COG1	OMIM:611209
HP:0001252	Hypotonia	7125	TNNC2	OMIM:620161
HP:0001252	Hypotonia	1272	CNTN1	OMIM:612540
HP:0001252	Hypotonia	55157	DARS2	ORPHA:137898
HP:0001252	Hypotonia	5080	PAX6	ORPHA:1065
HP:0001252	Hypotonia	3708	ITPR1	ORPHA:1065
HP:0001252	Hypotonia	3708	ITPR1	OMIM:117360
HP:0001252	Hypotonia	55858	TMEM165	OMIM:614727
HP:0001252	Hypotonia	64087	MCCC2	OMIM:210210
HP:0001252	Hypotonia	64087	MCCC2	ORPHA:6
HP:0001252	Hypotonia	54675	CRLS1	OMIM:620167
HP:0001252	Hypotonia	222663	SCUBE3	OMIM:619184
HP:0001252	Hypotonia	9184	BUB3	ORPHA:1052
HP:0001252	Hypotonia	699	BUB1	ORPHA:1052
HP:0001252	Hypotonia	9702	CEP57	ORPHA:1052
HP:0001252	Hypotonia	9702	CEP57	OMIM:614114
HP:0001252	Hypotonia	9319	TRIP13	ORPHA:1052
HP:0001252	Hypotonia	701	BUB1B	ORPHA:1052
HP:0001252	Hypotonia	23036	ZNF292	OMIM:619188
HP:0001252	Hypotonia	55148	UBR7	OMIM:619189
HP:0001252	Hypotonia	1591	CYP24A1	OMIM:143880
HP:0001252	Hypotonia	4915	NTRK2	OMIM:613886
HP:0001252	Hypotonia	56922	MCCC1	OMIM:210200
HP:0001252	Hypotonia	56922	MCCC1	ORPHA:6
HP:0001252	Hypotonia	63894	VIPAS39	OMIM:613404
HP:0001252	Hypotonia	25942	SIN3A	OMIM:613406
HP:0001252	Hypotonia	25942	SIN3A	ORPHA:94065
HP:0001252	Hypotonia	79053	ALG8	OMIM:608104
HP:0001252	Hypotonia	79053	ALG8	ORPHA:79325
HP:0001252	Hypotonia	84947	SERAC1	OMIM:614739
HP:0001252	Hypotonia	113278	SLC52A3	OMIM:211530
HP:0001252	Hypotonia	9653	HS2ST1	OMIM:619194
HP:0001252	Hypotonia	3769	KCNJ13	ORPHA:65
HP:0001252	Hypotonia	343035	RD3	ORPHA:65
HP:0001252	Hypotonia	145226	RDH12	ORPHA:65
HP:0001252	Hypotonia	1406	CRX	ORPHA:65
HP:0001252	Hypotonia	57096	RPGRIP1	ORPHA:65
HP:0001252	Hypotonia	80184	CEP290	ORPHA:65
HP:0001252	Hypotonia	80184	CEP290	ORPHA:2318
HP:0001252	Hypotonia	80184	CEP290	OMIM:610188
HP:0001252	Hypotonia	10383	TUBB4B	ORPHA:65
HP:0001252	Hypotonia	9742	IFT140	ORPHA:65
HP:0001252	Hypotonia	9742	IFT140	OMIM:266920
HP:0001252	Hypotonia	85015	USP45	ORPHA:65
HP:0001252	Hypotonia	6121	RPE65	ORPHA:65
HP:0001252	Hypotonia	23418	CRB1	ORPHA:65
HP:0001252	Hypotonia	5130	PCYT1A	ORPHA:65
HP:0001252	Hypotonia	9657	IQCB1	ORPHA:65
HP:0001252	Hypotonia	392255	GDF6	ORPHA:65
HP:0001252	Hypotonia	23746	AIPL1	ORPHA:65
HP:0001252	Hypotonia	3000	GUCY2D	ORPHA:65
HP:0001252	Hypotonia	9227	LRAT	ORPHA:65
HP:0001252	Hypotonia	55812	SPATA7	ORPHA:65
HP:0001252	Hypotonia	7287	TULP1	ORPHA:65
HP:0001252	Hypotonia	167691	LCA5	ORPHA:65
HP:0001252	Hypotonia	3614	IMPDH1	ORPHA:65
HP:0001252	Hypotonia	7025	NR2F1	ORPHA:401777
HP:0001252	Hypotonia	7025	NR2F1	OMIM:615722
HP:0001252	Hypotonia	2629	GBA1	ORPHA:85212
HP:0001252	Hypotonia	51660	MPC1	OMIM:614741
HP:0001252	Hypotonia	64327	LMBR1	ORPHA:2378
HP:0001252	Hypotonia	11128	POLR3A	OMIM:264090
HP:0001252	Hypotonia	3675	ITGA3	OMIM:614748
HP:0001252	Hypotonia	5649	RELN	OMIM:257320
HP:0001252	Hypotonia	55719	SLF2	OMIM:620184
HP:0001252	Hypotonia	55343	SLC35C1	OMIM:266265
HP:0001252	Hypotonia	79759	ZNF668	OMIM:620194
HP:0001252	Hypotonia	283209	PGM2L1	OMIM:620191
HP:0001252	Hypotonia	1737	DLAT	OMIM:245348
HP:0001252	Hypotonia	3251	HPRT1	OMIM:300322
HP:0001252	Hypotonia	182	JAG1	OMIM:118450
HP:0001252	Hypotonia	182	JAG1	OMIM:619574
HP:0001252	Hypotonia	34	ACADM	ORPHA:42
HP:0001252	Hypotonia	34	ACADM	OMIM:201450
HP:0001252	Hypotonia	3977	LIFR	ORPHA:3206
HP:0001252	Hypotonia	3977	LIFR	OMIM:601559
HP:0001252	Hypotonia	1374	CPT1A	OMIM:255120
HP:0001252	Hypotonia	1374	CPT1A	ORPHA:156
HP:0001252	Hypotonia	6509	SLC1A4	ORPHA:447997
HP:0001252	Hypotonia	6509	SLC1A4	OMIM:616657
HP:0001252	Hypotonia	23479	ISCU	OMIM:255125
HP:0001252	Hypotonia	54463	RETREG1	OMIM:201300
HP:0001252	Hypotonia	65125	WNK1	OMIM:201300
HP:0001252	Hypotonia	22907	DHX30	OMIM:617804
HP:0001252	Hypotonia	7407	VARS1	OMIM:617802
HP:0001252	Hypotonia	57724	EPG5	ORPHA:1493
HP:0001252	Hypotonia	57724	EPG5	OMIM:242840
HP:0001252	Hypotonia	56052	ALG1	OMIM:608540
HP:0001252	Hypotonia	56052	ALG1	ORPHA:79327
HP:0001252	Hypotonia	8518	ELP1	OMIM:223900
HP:0001252	Hypotonia	8518	ELP1	ORPHA:1764
HP:0001252	Hypotonia	3033	HADH	OMIM:231530
HP:0001252	Hypotonia	3033	HADH	OMIM:609975
HP:0001252	Hypotonia	8733	GPAA1	OMIM:617810
HP:0001252	Hypotonia	6569	SLC34A1	OMIM:616963
HP:0001252	Hypotonia	132	ADK	OMIM:614300
HP:0001252	Hypotonia	79848	CSPP1	OMIM:615636
HP:0001252	Hypotonia	79848	CSPP1	ORPHA:475
HP:0001252	Hypotonia	9759	HDAC4	ORPHA:1001
HP:0001252	Hypotonia	9759	HDAC4	OMIM:619797
HP:0001252	Hypotonia	11133	KPTN	OMIM:615637
HP:0001252	Hypotonia	11133	KPTN	ORPHA:397612
HP:0001252	Hypotonia	6334	SCN8A	OMIM:614306
HP:0001252	Hypotonia	6334	SCN8A	OMIM:614558
HP:0001252	Hypotonia	91147	TMEM67	OMIM:216360
HP:0001252	Hypotonia	91147	TMEM67	ORPHA:1454
HP:0001252	Hypotonia	91147	TMEM67	OMIM:610688
HP:0001252	Hypotonia	91147	TMEM67	ORPHA:475
HP:0001252	Hypotonia	3074	HEXB	OMIM:268800
HP:0001252	Hypotonia	27034	ACAD8	OMIM:611283
HP:0001252	Hypotonia	27034	ACAD8	ORPHA:79159
HP:0001252	Hypotonia	54931	TRMT10C	OMIM:616974
HP:0001252	Hypotonia	8085	KMT2D	ORPHA:2322
HP:0001252	Hypotonia	8085	KMT2D	OMIM:147920
HP:0001252	Hypotonia	7403	KDM6A	ORPHA:2322
HP:0001252	Hypotonia	7403	KDM6A	OMIM:300867
HP:0001252	Hypotonia	7403	KDM6A	OMIM:147920
HP:0001252	Hypotonia	3097	HIVEP2	OMIM:616977
HP:0001252	Hypotonia	10651	MTX2	ORPHA:90153
HP:0001252	Hypotonia	4692	NDN	ORPHA:177904
HP:0001252	Hypotonia	4692	NDN	ORPHA:177901
HP:0001252	Hypotonia	4692	NDN	ORPHA:98754
HP:0001252	Hypotonia	2332	FMR1	ORPHA:449291
HP:0001252	Hypotonia	2332	FMR1	ORPHA:261483
HP:0001252	Hypotonia	2332	FMR1	ORPHA:908
HP:0001252	Hypotonia	55906	ZC4H2	OMIM:314580
HP:0001252	Hypotonia	23732	FRRS1L	OMIM:616981
HP:0001252	Hypotonia	388753	COA6	OMIM:616501
HP:0001252	Hypotonia	2068	ERCC2	ORPHA:1466
HP:0001252	Hypotonia	2073	ERCC5	ORPHA:1466
HP:0001252	Hypotonia	6709	SPTAN1	OMIM:613477
HP:0001252	Hypotonia	4358	MPV17	OMIM:256810
HP:0001252	Hypotonia	91137	SLC25A46	OMIM:616505
HP:0001252	Hypotonia	91137	SLC25A46	ORPHA:2254
HP:0001252	Hypotonia	9378	NRXN1	OMIM:614325
HP:0001252	Hypotonia	6678	SPARC	OMIM:616507
HP:0001252	Hypotonia	79583	TMEM231	ORPHA:2318
HP:0001252	Hypotonia	51524	TMEM138	ORPHA:2318
HP:0001252	Hypotonia	23090	ZNF423	ORPHA:2318
HP:0001252	Hypotonia	57545	CC2D2A	ORPHA:2318
HP:0001252	Hypotonia	57545	CC2D2A	ORPHA:1454
HP:0001252	Hypotonia	197131	UBR1	ORPHA:2315
HP:0001252	Hypotonia	197131	UBR1	OMIM:243800
HP:0001252	Hypotonia	4982	TNFRSF11B	OMIM:239000
HP:0001252	Hypotonia	4854	NOTCH3	ORPHA:2789
HP:0001252	Hypotonia	4854	NOTCH3	OMIM:130720
HP:0001252	Hypotonia	326625	MMAB	OMIM:251110
HP:0001252	Hypotonia	9361	LONP1	ORPHA:1458
HP:0001252	Hypotonia	9361	LONP1	OMIM:600373
HP:0001252	Hypotonia	9361	LONP1	ORPHA:79243
HP:0001252	Hypotonia	10367	MICU1	OMIM:615673
HP:0001252	Hypotonia	55180	LINS1	OMIM:614340
HP:0001252	Hypotonia	1213	CLTC	OMIM:617854
HP:0001252	Hypotonia	85440	DOCK7	ORPHA:411986
HP:0001252	Hypotonia	85440	DOCK7	OMIM:615859
HP:0001252	Hypotonia	122553	TRAPPC6B	OMIM:617862
HP:0001252	Hypotonia	57570	TRMT5	OMIM:616539
HP:0001252	Hypotonia	60482	SLC5A7	ORPHA:98914
HP:0001252	Hypotonia	60482	SLC5A7	OMIM:617143
HP:0001252	Hypotonia	4649	MYO9A	ORPHA:98914
HP:0001252	Hypotonia	1305	COL13A1	ORPHA:98914
HP:0001252	Hypotonia	1305	COL13A1	OMIM:616720
HP:0001252	Hypotonia	6576	SLC25A1	ORPHA:98914
HP:0001252	Hypotonia	6576	SLC25A1	OMIM:615182
HP:0001252	Hypotonia	375790	AGRN	ORPHA:98914
HP:0001252	Hypotonia	127833	SYT2	ORPHA:98914
HP:0001252	Hypotonia	127833	SYT2	OMIM:619461
HP:0001252	Hypotonia	6572	SLC18A3	ORPHA:98914
HP:0001252	Hypotonia	6572	SLC18A3	OMIM:617239
HP:0001252	Hypotonia	6616	SNAP25	ORPHA:98914
HP:0001252	Hypotonia	5261	PHKG2	OMIM:613027
HP:0001252	Hypotonia	5261	PHKG2	ORPHA:264580
HP:0001252	Hypotonia	8292	COLQ	ORPHA:98915
HP:0001252	Hypotonia	8292	COLQ	OMIM:603034
HP:0001252	Hypotonia	3913	LAMB2	ORPHA:98915
HP:0001252	Hypotonia	3913	LAMB2	OMIM:609049
HP:0001252	Hypotonia	139285	AMER1	OMIM:300373
HP:0001252	Hypotonia	51	ACOX1	OMIM:264470
HP:0001252	Hypotonia	51	ACOX1	ORPHA:2971
HP:0001252	Hypotonia	10577	NPC2	OMIM:607625
HP:0001252	Hypotonia	4724	NDUFS4	OMIM:252010
HP:0001252	Hypotonia	4724	NDUFS4	ORPHA:255241
HP:0001252	Hypotonia	4724	NDUFS4	ORPHA:2609
HP:0001252	Hypotonia	8777	MPDZ	OMIM:615219
HP:0001252	Hypotonia	5449	POU1F1	OMIM:613038
HP:0001252	Hypotonia	5449	POU1F1	ORPHA:226307
HP:0001252	Hypotonia	10210	TOPORS	ORPHA:2754
HP:0001252	Hypotonia	9851	KIAA0753	ORPHA:2754
HP:0001252	Hypotonia	9851	KIAA0753	OMIM:619476
HP:0001252	Hypotonia	9851	KIAA0753	OMIM:619479
HP:0001252	Hypotonia	26123	TCTN3	ORPHA:2754
HP:0001252	Hypotonia	5147	PDE6D	ORPHA:2754
HP:0001252	Hypotonia	65250	CPLANE1	ORPHA:2754
HP:0001252	Hypotonia	65250	CPLANE1	OMIM:277170
HP:0001252	Hypotonia	65250	CPLANE1	ORPHA:475
HP:0001252	Hypotonia	8481	OFD1	ORPHA:2754
HP:0001252	Hypotonia	8481	OFD1	OMIM:300209
HP:0001252	Hypotonia	317662	FAM149B1	ORPHA:2754
HP:0001252	Hypotonia	374654	KIF7	ORPHA:2754
HP:0001252	Hypotonia	374654	KIF7	OMIM:200990
HP:0001252	Hypotonia	2182	ACSL4	OMIM:300387
HP:0001252	Hypotonia	2182	ACSL4	ORPHA:86818
HP:0001252	Hypotonia	51763	INPP5K	OMIM:617404
HP:0001252	Hypotonia	51763	INPP5K	ORPHA:559
HP:0001252	Hypotonia	3636	INPPL1	ORPHA:2746
HP:0001252	Hypotonia	3636	INPPL1	OMIM:258480
HP:0001252	Hypotonia	246329	STAC3	OMIM:255995
HP:0001252	Hypotonia	246329	STAC3	ORPHA:168572
HP:0001252	Hypotonia	1278	COL1A2	ORPHA:1899
HP:0001252	Hypotonia	10617	STAMBP	OMIM:614261
HP:0001252	Hypotonia	8294	H4C9	OMIM:619951
HP:0001252	Hypotonia	57128	LYRM4	OMIM:615595
HP:0001252	Hypotonia	5728	PTEN	OMIM:605309
HP:0001252	Hypotonia	5728	PTEN	ORPHA:109
HP:0001252	Hypotonia	3703	STT3A	OMIM:615596
HP:0001252	Hypotonia	343450	KCNT2	OMIM:617771
HP:0001252	Hypotonia	201595	STT3B	OMIM:615597
HP:0001252	Hypotonia	1947	EFNB1	ORPHA:1520
HP:0001252	Hypotonia	1947	EFNB1	OMIM:304110
HP:0001252	Hypotonia	1355	COX15	OMIM:615119
HP:0001252	Hypotonia	1355	COX15	ORPHA:255241
HP:0001252	Hypotonia	55627	SMPD4	OMIM:618622
HP:0001252	Hypotonia	23417	MLYCD	OMIM:248360
HP:0001252	Hypotonia	81857	MED25	OMIM:616449
HP:0001252	Hypotonia	81857	MED25	ORPHA:464738
HP:0001252	Hypotonia	22800	RRAS2	OMIM:618624
HP:0001252	Hypotonia	22800	RRAS2	ORPHA:648
HP:0001252	Hypotonia	55733	HHAT	OMIM:600092
HP:0001252	Hypotonia	4047	LSS	ORPHA:2850
HP:0001252	Hypotonia	197	AHSG	ORPHA:2850
HP:0001252	Hypotonia	3694	ITGB6	ORPHA:2850
HP:0001252	Hypotonia	2072	ERCC4	ORPHA:90321
HP:0001252	Hypotonia	790	CAD	OMIM:616457
HP:0001252	Hypotonia	65082	VPS33A	OMIM:617303
HP:0001252	Hypotonia	65082	VPS33A	ORPHA:505248
HP:0001252	Hypotonia	10730	YME1L1	OMIM:617302
HP:0001252	Hypotonia	129563	DIS3L2	ORPHA:2849
HP:0001252	Hypotonia	28960	DCPS	OMIM:616459
HP:0001252	Hypotonia	4286	MITF	OMIM:617306
HP:0001252	Hypotonia	9200	HACD1	OMIM:619967
HP:0001252	Hypotonia	9200	HACD1	ORPHA:2020
HP:0001252	Hypotonia	120227	CYP2R1	OMIM:600081
HP:0001252	Hypotonia	3908	LAMA2	ORPHA:258
HP:0001252	Hypotonia	3908	LAMA2	OMIM:607855
HP:0001252	Hypotonia	57231	SNX14	ORPHA:397709
HP:0001252	Hypotonia	57231	SNX14	OMIM:616354
HP:0001252	Hypotonia	284058	KANSL1	ORPHA:363958
HP:0001252	Hypotonia	284058	KANSL1	ORPHA:363965
HP:0001252	Hypotonia	91869	RFT1	ORPHA:244310
HP:0001252	Hypotonia	91869	RFT1	OMIM:612015
HP:0001252	Hypotonia	815	CAMK2A	OMIM:617798
HP:0001252	Hypotonia	815	CAMK2A	OMIM:618095
HP:0001252	Hypotonia	1290	COL5A2	ORPHA:287
HP:0001252	Hypotonia	652	BMP4	OMIM:607932
HP:0001252	Hypotonia	10815	CPLX1	ORPHA:280
HP:0001252	Hypotonia	10815	CPLX1	OMIM:617976
HP:0001252	Hypotonia	54872	PIGG	ORPHA:280
HP:0001252	Hypotonia	54872	PIGG	ORPHA:488635
HP:0001252	Hypotonia	7469	NELFA	ORPHA:280
HP:0001252	Hypotonia	1487	CTBP1	ORPHA:280
HP:0001252	Hypotonia	1487	CTBP1	OMIM:617915
HP:0001252	Hypotonia	3954	LETM1	ORPHA:280
HP:0001252	Hypotonia	3954	LETM1	OMIM:620089
HP:0001252	Hypotonia	1303	COL12A1	OMIM:616471
HP:0001252	Hypotonia	1303	COL12A1	ORPHA:536516
HP:0001252	Hypotonia	283987	HID1	OMIM:619983
HP:0001252	Hypotonia	1501	CTNND2	ORPHA:281
HP:0001252	Hypotonia	9037	SEMA5A	ORPHA:281
HP:0001252	Hypotonia	497661	C18orf32	OMIM:619985
HP:0001252	Hypotonia	2783	GNB2	OMIM:619503
HP:0001252	Hypotonia	8241	RBM10	OMIM:311900
HP:0001252	Hypotonia	1621	DBH	ORPHA:230
HP:0001252	Hypotonia	1621	DBH	OMIM:223360
HP:0001252	Hypotonia	1182	CLCN3	OMIM:619512
HP:0001252	Hypotonia	84879	MFSD2A	OMIM:616486
HP:0001252	Hypotonia	6329	SCN4A	OMIM:170400
HP:0001252	Hypotonia	7862	BRPF1	OMIM:617333
HP:0001252	Hypotonia	54914	FOCAD	OMIM:619991
HP:0001252	Hypotonia	55699	IARS2	OMIM:616007
HP:0001252	Hypotonia	4191	MDH2	OMIM:617339
HP:0001252	Hypotonia	166785	MMAA	OMIM:251100
HP:0001252	Hypotonia	5551	PRF1	OMIM:603553
HP:0001252	Hypotonia	8676	STX11	OMIM:603552
HP:0001252	Hypotonia	26137	ZBTB20	OMIM:259050
HP:0001252	Hypotonia	7750	ZMYM2	OMIM:619522
HP:0001252	Hypotonia	4849	CNOT3	OMIM:618672
HP:0001252	Hypotonia	22	ABCB7	ORPHA:2802
HP:0001252	Hypotonia	2542	SLC37A4	OMIM:619525
HP:0001252	Hypotonia	57104	PNPLA2	OMIM:610717
HP:0001252	Hypotonia	3835	KIF22	OMIM:603546
HP:0001252	Hypotonia	79989	IFT56	OMIM:619534
HP:0001252	Hypotonia	2006	ELN	ORPHA:90348
HP:0001252	Hypotonia	2006	ELN	OMIM:194050
HP:0001252	Hypotonia	2006	ELN	ORPHA:904
HP:0001252	Hypotonia	10516	FBLN5	ORPHA:90348
HP:0001252	Hypotonia	5832	ALDH18A1	ORPHA:90348
HP:0001252	Hypotonia	5832	ALDH18A1	ORPHA:447757
HP:0001252	Hypotonia	5832	ALDH18A1	OMIM:219150
HP:0001252	Hypotonia	5832	ALDH18A1	OMIM:616603
HP:0001252	Hypotonia	1107	CHD3	OMIM:618205
HP:0001252	Hypotonia	23189	KANK1	OMIM:612900
HP:0001252	Hypotonia	6513	SLC2A1	ORPHA:1942
HP:0001252	Hypotonia	1173	AP2M1	ORPHA:1942
HP:0001252	Hypotonia	1106	CHD2	ORPHA:1942
HP:0001252	Hypotonia	6529	SLC6A1	ORPHA:1942
HP:0001252	Hypotonia	6529	SLC6A1	OMIM:616421
HP:0001252	Hypotonia	6595	SMARCA2	OMIM:601358
HP:0001252	Hypotonia	6595	SMARCA2	OMIM:619293
HP:0001252	Hypotonia	6261	RYR1	OMIM:619542
HP:0001252	Hypotonia	6261	RYR1	ORPHA:597
HP:0001252	Hypotonia	6261	RYR1	OMIM:255320
HP:0001252	Hypotonia	8621	CDK13	OMIM:617360
HP:0001252	Hypotonia	133686	NADK2	OMIM:616034
HP:0001252	Hypotonia	164	AP1G1	OMIM:619548
HP:0001252	Hypotonia	164	AP1G1	OMIM:619467
HP:0001252	Hypotonia	8905	AP1S2	OMIM:304340
HP:0001252	Hypotonia	8905	AP1S2	ORPHA:85335
HP:0001252	Hypotonia	2879	GPX4	OMIM:250220
HP:0001252	Hypotonia	3912	LAMB1	OMIM:615191
HP:0001252	Hypotonia	4728	NDUFS8	OMIM:618222
HP:0001252	Hypotonia	4728	NDUFS8	ORPHA:255241
HP:0001252	Hypotonia	4728	NDUFS8	ORPHA:2609
HP:0001252	Hypotonia	4723	NDUFV1	OMIM:618225
HP:0001252	Hypotonia	4723	NDUFV1	ORPHA:255241
HP:0001252	Hypotonia	4723	NDUFV1	ORPHA:2609
HP:0001252	Hypotonia	30000	TNPO2	OMIM:619556
HP:0001252	Hypotonia	498	ATP5F1A	OMIM:616045
HP:0001252	Hypotonia	79705	LRRK1	OMIM:615198
HP:0001252	Hypotonia	57102	C12orf4	OMIM:618221
HP:0001252	Hypotonia	55628	ZNF407	OMIM:619557
HP:0001252	Hypotonia	1756	DMD	OMIM:310200
HP:0001252	Hypotonia	81570	CLPB	ORPHA:445038
HP:0001252	Hypotonia	81570	CLPB	OMIM:619835
HP:0001252	Hypotonia	81570	CLPB	OMIM:616271
HP:0001252	Hypotonia	1908	EDN3	ORPHA:661
HP:0001252	Hypotonia	2668	GDNF	ORPHA:661
HP:0001252	Hypotonia	627	BDNF	ORPHA:661
HP:0001252	Hypotonia	283446	MYO1H	ORPHA:661
HP:0001252	Hypotonia	283446	MYO1H	OMIM:619482
HP:0001252	Hypotonia	91942	NDUFAF2	OMIM:618233
HP:0001252	Hypotonia	91942	NDUFAF2	ORPHA:255241
HP:0001252	Hypotonia	91942	NDUFAF2	ORPHA:2609
HP:0001252	Hypotonia	1387	CREBBP	ORPHA:353281
HP:0001252	Hypotonia	1387	CREBBP	ORPHA:353277
HP:0001252	Hypotonia	1387	CREBBP	OMIM:180849
HP:0001252	Hypotonia	51103	NDUFAF1	OMIM:618234
HP:0001252	Hypotonia	51103	NDUFAF1	ORPHA:2609
HP:0001252	Hypotonia	79868	ALG13	OMIM:300884
HP:0001252	Hypotonia	8867	SYNJ1	OMIM:617389
HP:0001252	Hypotonia	10659	CELF2	OMIM:619561
HP:0001252	Hypotonia	3745	KCNB1	OMIM:616056
HP:0001252	Hypotonia	443	ASPA	ORPHA:314918
HP:0001252	Hypotonia	443	ASPA	ORPHA:314911
HP:0001252	Hypotonia	443	ASPA	OMIM:271900
HP:0001252	Hypotonia	2033	EP300	ORPHA:353284
HP:0001252	Hypotonia	2033	EP300	OMIM:180849
HP:0001252	Hypotonia	137682	NDUFAF6	OMIM:618239
HP:0001252	Hypotonia	137682	NDUFAF6	ORPHA:255241
HP:0001252	Hypotonia	10166	SLC25A15	OMIM:238970
HP:0001252	Hypotonia	1741	DLG3	OMIM:300850
HP:0001252	Hypotonia	55967	NDUFA12	OMIM:618244
HP:0001252	Hypotonia	55967	NDUFA12	ORPHA:255241
HP:0001252	Hypotonia	57551	TAOK1	OMIM:619575
HP:0001252	Hypotonia	4715	NDUFB9	OMIM:618245
HP:0001252	Hypotonia	4715	NDUFB9	ORPHA:2609
HP:0001252	Hypotonia	56915	EXOSC5	OMIM:619576
HP:0001252	Hypotonia	22796	COG2	OMIM:617395
HP:0001252	Hypotonia	4709	NDUFB3	OMIM:618246
HP:0001252	Hypotonia	4709	NDUFB3	ORPHA:2609
HP:0001252	Hypotonia	55572	FOXRED1	OMIM:618241
HP:0001252	Hypotonia	55572	FOXRED1	ORPHA:255241
HP:0001252	Hypotonia	55572	FOXRED1	ORPHA:2609
HP:0001252	Hypotonia	8260	NAA10	OMIM:300855
HP:0001252	Hypotonia	8260	NAA10	OMIM:309800
HP:0001252	Hypotonia	4705	NDUFA10	OMIM:618243
HP:0001252	Hypotonia	4705	NDUFA10	ORPHA:255241
HP:0001252	Hypotonia	7169	TPM2	OMIM:609285
HP:0001252	Hypotonia	7169	TPM2	ORPHA:2020
HP:0001252	Hypotonia	123263	MTFMT	OMIM:618248
HP:0001252	Hypotonia	123263	MTFMT	OMIM:614947
HP:0001252	Hypotonia	123263	MTFMT	ORPHA:255241
HP:0001252	Hypotonia	9719	ADAMTSL2	ORPHA:1901
HP:0001252	Hypotonia	9509	ADAMTS2	ORPHA:1901
HP:0001252	Hypotonia	23203	PMPCA	OMIM:213200
HP:0001252	Hypotonia	23203	PMPCA	ORPHA:1170
HP:0001252	Hypotonia	4864	NPC1	OMIM:257220
HP:0001252	Hypotonia	5351	PLOD1	ORPHA:1900
HP:0001252	Hypotonia	5351	PLOD1	OMIM:225400
HP:0001252	Hypotonia	55750	AGK	OMIM:212350
HP:0001252	Hypotonia	80324	PUS1	OMIM:600462
HP:0001252	Hypotonia	80324	PUS1	ORPHA:2598
HP:0001252	Hypotonia	112812	FDX2	OMIM:251900
HP:0001252	Hypotonia	9496	TBX4	ORPHA:261279
HP:0001252	Hypotonia	51300	TIMMDC1	OMIM:618251
HP:0001252	Hypotonia	51300	TIMMDC1	ORPHA:2609
HP:0001252	Hypotonia	80173	IFT74	OMIM:619582
HP:0001252	Hypotonia	26040	SETBP1	OMIM:616078
HP:0001252	Hypotonia	2475	MTOR	ORPHA:457485
HP:0001252	Hypotonia	6023	RMRP	OMIM:607095
HP:0001252	Hypotonia	6023	RMRP	ORPHA:175
HP:0001252	Hypotonia	5250	SLC25A3	OMIM:610773
HP:0001252	Hypotonia	5250	SLC25A3	ORPHA:91130
HP:0001252	Hypotonia	4990	SIX6	OMIM:206900
HP:0001252	Hypotonia	6657	SOX2	OMIM:206900
HP:0001252	Hypotonia	10771	ZMYND11	OMIM:616083
HP:0001252	Hypotonia	139411	PTCHD1	OMIM:300830
HP:0001252	Hypotonia	57003	CCDC47	OMIM:618268
HP:0001252	Hypotonia	10847	SRCAP	OMIM:619595
HP:0001252	Hypotonia	55526	DHTKD1	OMIM:204750
HP:0001252	Hypotonia	4983	OPHN1	ORPHA:137831
HP:0001252	Hypotonia	1836	SLC26A2	ORPHA:628
HP:0001252	Hypotonia	113189	CHST14	OMIM:601776
HP:0001252	Hypotonia	6197	RPS6KA3	OMIM:300844
HP:0001252	Hypotonia	6197	RPS6KA3	ORPHA:276630
HP:0001252	Hypotonia	6197	RPS6KA3	OMIM:303600
HP:0001252	Hypotonia	6197	RPS6KA3	ORPHA:192
HP:0001252	Hypotonia	23287	AGTPBP1	OMIM:618276
HP:0001252	Hypotonia	23287	AGTPBP1	ORPHA:2254
HP:0001252	Hypotonia	118924	FRA10AC1	OMIM:620113
HP:0001252	Hypotonia	8911	CACNA1I	OMIM:620114
HP:0001252	Hypotonia	11014	KDELR2	OMIM:619131
HP:0001252	Hypotonia	4781	NFIB	OMIM:618286
HP:0001252	Hypotonia	4668	NAGA	OMIM:609241
HP:0001252	Hypotonia	4668	NAGA	ORPHA:79279
HP:0001252	Hypotonia	867	CBL	ORPHA:648
HP:0001252	Hypotonia	867	CBL	OMIM:613563
HP:0001252	Hypotonia	8216	LZTR1	ORPHA:648
HP:0001252	Hypotonia	6016	RIT1	ORPHA:648
HP:0001252	Hypotonia	6237	RRAS	ORPHA:648
HP:0001252	Hypotonia	5894	RAF1	ORPHA:648
HP:0001252	Hypotonia	22808	MRAS	ORPHA:648
HP:0001252	Hypotonia	22808	MRAS	OMIM:618499
HP:0001252	Hypotonia	3845	KRAS	ORPHA:648
HP:0001252	Hypotonia	3845	KRAS	ORPHA:3339
HP:0001252	Hypotonia	3845	KRAS	ORPHA:144
HP:0001252	Hypotonia	3845	KRAS	ORPHA:2612
HP:0001252	Hypotonia	3845	KRAS	ORPHA:1340
HP:0001252	Hypotonia	200734	SPRED2	ORPHA:648
HP:0001252	Hypotonia	200734	SPRED2	OMIM:619745
HP:0001252	Hypotonia	4893	NRAS	ORPHA:648
HP:0001252	Hypotonia	4893	NRAS	ORPHA:2612
HP:0001252	Hypotonia	6654	SOS1	ORPHA:648
HP:0001252	Hypotonia	6655	SOS2	ORPHA:648
HP:0001252	Hypotonia	5781	PTPN11	ORPHA:648
HP:0001252	Hypotonia	5922	RASA2	ORPHA:648
HP:0001252	Hypotonia	4693	NDP	ORPHA:649
HP:0001252	Hypotonia	1719	DHFR	OMIM:613839
HP:0001252	Hypotonia	1795	DOCK3	OMIM:618292
HP:0001252	Hypotonia	5257	PHKB	OMIM:261750
HP:0001252	Hypotonia	5257	PHKB	ORPHA:79240
HP:0001252	Hypotonia	3735	KARS1	OMIM:619147
HP:0001252	Hypotonia	27161	AGO2	OMIM:619149
HP:0001252	Hypotonia	8665	EIF3F	OMIM:618295
HP:0001252	Hypotonia	221692	PHACTR1	OMIM:618298
HP:0001252	Hypotonia	9131	AIFM1	OMIM:300816
HP:0001252	Hypotonia	54938	SARS2	OMIM:613845
HP:0001252	Hypotonia	26275	HIBCH	OMIM:250620
HP:0001252	Hypotonia	26275	HIBCH	ORPHA:88639
HP:0001252	Hypotonia	50640	PNPLA8	OMIM:251950
HP:0001252	Hypotonia	4594	MMUT	ORPHA:289916
HP:0001252	Hypotonia	4594	MMUT	OMIM:251000
HP:0001252	Hypotonia	4594	MMUT	ORPHA:79312
HP:0001252	Hypotonia	4359	MPZ	OMIM:618184
HP:0001252	Hypotonia	4359	MPZ	OMIM:145900
HP:0001252	Hypotonia	79717	PPCS	OMIM:618189
HP:0001252	Hypotonia	9871	SEC24D	ORPHA:2050
HP:0001252	Hypotonia	9871	SEC24D	OMIM:616294
HP:0001252	Hypotonia	5034	P4HB	ORPHA:2050
HP:0001252	Hypotonia	95	ACY1	ORPHA:137754
HP:0001252	Hypotonia	95	ACY1	OMIM:609924
HP:0001252	Hypotonia	7109	TRAPPC10	OMIM:620027
HP:0001252	Hypotonia	55325	UFSP2	OMIM:620028
HP:0001252	Hypotonia	10274	STAG1	ORPHA:502434
HP:0001252	Hypotonia	4774	NFIA	OMIM:613735
HP:0001252	Hypotonia	4774	NFIA	ORPHA:401986
HP:0001252	Hypotonia	8496	PPFIBP1	OMIM:620024
HP:0001252	Hypotonia	57176	VARS2	OMIM:615917
HP:0001252	Hypotonia	501	ALDH7A1	OMIM:266100
HP:0001252	Hypotonia	3073	HEXA	OMIM:272800
HP:0001252	Hypotonia	54968	TMEM70	ORPHA:1194
HP:0001252	Hypotonia	54968	TMEM70	OMIM:614052
HP:0001252	Hypotonia	3141	HLCS	OMIM:253270
HP:0001252	Hypotonia	3141	HLCS	ORPHA:79242
HP:0001252	Hypotonia	5689	PSMB1	OMIM:620038
HP:0001252	Hypotonia	116228	COX20	OMIM:619054
HP:0001252	Hypotonia	686	BTD	OMIM:253260
HP:0001252	Hypotonia	686	BTD	ORPHA:79241
HP:0001252	Hypotonia	55107	ANO1	OMIM:620045
HP:0001252	Hypotonia	5428	POLG	ORPHA:726
HP:0001252	Hypotonia	5428	POLG	OMIM:203700
HP:0001252	Hypotonia	5428	POLG	OMIM:613662
HP:0001252	Hypotonia	79087	ALG12	OMIM:607143
HP:0001252	Hypotonia	79087	ALG12	ORPHA:79324
HP:0001252	Hypotonia	9377	COX5A	OMIM:619064
HP:0001252	Hypotonia	58	ACTA1	ORPHA:2020
HP:0001252	Hypotonia	4633	MYL2	ORPHA:2020
HP:0001252	Hypotonia	3679	ITGA7	ORPHA:2020
HP:0001252	Hypotonia	3679	ITGA7	OMIM:613204
HP:0001252	Hypotonia	7170	TPM3	ORPHA:2020
HP:0001252	Hypotonia	51776	MAP3K20	ORPHA:2020
HP:0001252	Hypotonia	51776	MAP3K20	OMIM:617760
HP:0001252	Hypotonia	54476	RNF216	ORPHA:1173
HP:0001252	Hypotonia	10908	PNPLA6	ORPHA:1173
HP:0001252	Hypotonia	4591	TRIM37	OMIM:253250
HP:0001252	Hypotonia	79813	EHMT1	OMIM:610253
HP:0001252	Hypotonia	79813	EHMT1	ORPHA:261652
HP:0001252	Hypotonia	79813	EHMT1	ORPHA:96147
HP:0001252	Hypotonia	124512	METTL23	OMIM:615942
HP:0001252	Hypotonia	1174	AP1S1	OMIM:609313
HP:0001252	Hypotonia	112755	STX1B	ORPHA:36387
HP:0001252	Hypotonia	2563	GABRD	ORPHA:36387
HP:0001252	Hypotonia	2563	GABRD	ORPHA:1606
HP:0001252	Hypotonia	348980	HCN1	ORPHA:36387
HP:0001252	Hypotonia	84059	ADGRV1	ORPHA:36387
HP:0001252	Hypotonia	5091	PC	OMIM:266150
HP:0001252	Hypotonia	149371	EXOC8	OMIM:619076
HP:0001252	Hypotonia	5290	PIK3CA	ORPHA:60040
HP:0001252	Hypotonia	5290	PIK3CA	ORPHA:144
HP:0001252	Hypotonia	5290	PIK3CA	OMIM:602501
HP:0001252	Hypotonia	81031	SLC2A10	ORPHA:3342
HP:0001252	Hypotonia	81031	SLC2A10	OMIM:208050
HP:0001252	Hypotonia	22859	ADGRL1	OMIM:620065
HP:0001252	Hypotonia	83475	DOHH	OMIM:620066
HP:0001252	Hypotonia	6609	SMPD1	OMIM:257200
HP:0001252	Hypotonia	55027	HEATR3	OMIM:620072
HP:0001252	Hypotonia	51611	DPH5	OMIM:620070
HP:0001252	Hypotonia	58508	KMT2C	ORPHA:261652
HP:0001252	Hypotonia	58508	KMT2C	OMIM:617768
HP:0001252	Hypotonia	284217	LAMA1	OMIM:615960
HP:0001252	Hypotonia	284217	LAMA1	ORPHA:370022
HP:0001252	Hypotonia	28976	ACAD9	OMIM:611126
HP:0001252	Hypotonia	7443	VRK1	OMIM:607596
HP:0001252	Hypotonia	7443	VRK1	ORPHA:2254
HP:0001252	Hypotonia	51085	MLXIPL	OMIM:194050
HP:0001252	Hypotonia	51085	MLXIPL	ORPHA:904
HP:0001252	Hypotonia	10430	TMEM147	OMIM:620075
HP:0001252	Hypotonia	3187	HNRNPH1	OMIM:620083
HP:0001252	Hypotonia	63895	PIEZO2	OMIM:248700
HP:0001252	Hypotonia	63895	PIEZO2	ORPHA:2461
HP:0001252	Hypotonia	22880	MORC2	OMIM:619090
HP:0001252	Hypotonia	22880	MORC2	OMIM:616688
HP:0001252	Hypotonia	64220	STRA6	ORPHA:2470
HP:0001252	Hypotonia	64220	STRA6	OMIM:601186
HP:0001252	Hypotonia	5915	RARB	ORPHA:2470
HP:0001252	Hypotonia	729920	CRPPA	OMIM:614643
HP:0001252	Hypotonia	729920	CRPPA	ORPHA:899
HP:0001252	Hypotonia	84978	FRMD5	OMIM:620094
HP:0001252	Hypotonia	667	DST	OMIM:614653
HP:0001252	Hypotonia	57017	COQ9	OMIM:614654
HP:0001252	Hypotonia	80199	FUZ	ORPHA:1136
HP:0001252	Hypotonia	10664	CTCF	OMIM:615502
HP:0001252	Hypotonia	10664	CTCF	ORPHA:363611
HP:0001252	Hypotonia	6497	SKI	ORPHA:2462
HP:0001252	Hypotonia	6497	SKI	ORPHA:1606
HP:0001252	Hypotonia	6497	SKI	OMIM:182212
HP:0001252	Hypotonia	5376	PMP22	OMIM:145900
HP:0001252	Hypotonia	1959	EGR2	OMIM:145900
HP:0001252	Hypotonia	57716	PRX	OMIM:145900
HP:0001252	Hypotonia	1861	TOR1A	OMIM:128100
HP:0001252	Hypotonia	3720	JARID2	OMIM:620098
HP:0001252	Hypotonia	1738	DLD	OMIM:246900
HP:0001252	Hypotonia	270	AMPD1	OMIM:615511
HP:0001252	Hypotonia	51621	KLF13	OMIM:612001
HP:0001252	Hypotonia	7167	TPI1	OMIM:615512
HP:0001252	Hypotonia	7167	TPI1	ORPHA:868
HP:0001252	Hypotonia	29926	GMPPA	OMIM:615510
HP:0001252	Hypotonia	29926	GMPPA	ORPHA:869
HP:0001252	Hypotonia	5332	PLCB4	OMIM:614669
HP:0001252	Hypotonia	5530	PPP3CA	OMIM:617711
HP:0001252	Hypotonia	5925	RB1	ORPHA:1587
HP:0001252	Hypotonia	7874	USP7	OMIM:616863
HP:0001252	Hypotonia	7874	USP7	ORPHA:500055
HP:0001252	Hypotonia	55644	OSGEP	OMIM:617729
HP:0001252	Hypotonia	55644	OSGEP	ORPHA:2065
HP:0001252	Hypotonia	112858	TP53RK	OMIM:617730
HP:0001252	Hypotonia	112858	TP53RK	ORPHA:2065
HP:0001252	Hypotonia	3747	KCNC2	OMIM:619913
HP:0001252	Hypotonia	490	ATP2B1	OMIM:619910
HP:0001252	Hypotonia	6925	TCF4	ORPHA:2896
HP:0001252	Hypotonia	6925	TCF4	OMIM:610954
HP:0001252	Hypotonia	26047	CNTNAP2	ORPHA:163681
HP:0001252	Hypotonia	55164	SHQ1	OMIM:619922
HP:0001252	Hypotonia	6519	SLC3A1	ORPHA:163690
HP:0001252	Hypotonia	6519	SLC3A1	ORPHA:163693
HP:0001252	Hypotonia	9581	PREPL	ORPHA:163690
HP:0001252	Hypotonia	9581	PREPL	ORPHA:163693
HP:0001252	Hypotonia	9581	PREPL	OMIM:616224
HP:0001252	Hypotonia	6591	SNAI2	ORPHA:2884
HP:0001252	Hypotonia	3815	KIT	ORPHA:2884
HP:0001252	Hypotonia	5495	PPM1B	ORPHA:163693
HP:0001252	Hypotonia	79823	CAMKMT	ORPHA:163693
HP:0001252	Hypotonia	1376	CPT2	OMIM:608836
HP:0001252	Hypotonia	9320	TRIP12	OMIM:617752
HP:0001252	Hypotonia	5538	PPT1	OMIM:256730
HP:0001252	Hypotonia	1663	DDX11	OMIM:613398
HP:0001252	Hypotonia	119559	SFXN4	OMIM:615578
HP:0001252	Hypotonia	51684	SUFU	OMIM:617757
HP:0001252	Hypotonia	51684	SUFU	ORPHA:475
HP:0001252	Hypotonia	9757	KMT2B	OMIM:619934
HP:0001252	Hypotonia	9469	CHST3	OMIM:245600
HP:0001252	Hypotonia	26229	B3GAT3	OMIM:245600
HP:0001252	Hypotonia	8803	SUCLA2	OMIM:612073
HP:0001252	Hypotonia	7043	TGFB3	OMIM:615582
HP:0001252	Hypotonia	10464	PIBF1	OMIM:617767
HP:0001252	Hypotonia	10464	PIBF1	ORPHA:475
HP:0001252	Hypotonia	2036	EPB41L1	OMIM:614257
HP:0001252	Hypotonia	9990	SLC12A6	OMIM:218000
HP:0001252	Hypotonia	26235	FBXL4	OMIM:615471
HP:0001252	Hypotonia	1144	CHRND	OMIM:616322
HP:0001252	Hypotonia	1144	CHRND	OMIM:616321
HP:0001252	Hypotonia	1144	CHRND	OMIM:616323
HP:0001252	Hypotonia	23135	KDM6B	OMIM:618505
HP:0001252	Hypotonia	4593	MUSK	OMIM:616325
HP:0001252	Hypotonia	23334	SZT2	OMIM:615476
HP:0001252	Hypotonia	4897	NRCAM	OMIM:619833
HP:0001252	Hypotonia	4072	EPCAM	ORPHA:144
HP:0001252	Hypotonia	4292	MLH1	ORPHA:144
HP:0001252	Hypotonia	5395	PMS2	ORPHA:144
HP:0001252	Hypotonia	27030	MLH3	ORPHA:144
HP:0001252	Hypotonia	22909	FAN1	ORPHA:144
HP:0001252	Hypotonia	7048	TGFBR2	ORPHA:144
HP:0001252	Hypotonia	2956	MSH6	ORPHA:144
HP:0001252	Hypotonia	5378	PMS1	ORPHA:144
HP:0001252	Hypotonia	4436	MSH2	ORPHA:144
HP:0001252	Hypotonia	4552	MTRR	OMIM:236270
HP:0001252	Hypotonia	4552	MTRR	ORPHA:2169
HP:0001252	Hypotonia	1373	CPS1	ORPHA:147
HP:0001252	Hypotonia	9578	CDC42BPB	OMIM:619841
HP:0001252	Hypotonia	65993	MRPS34	OMIM:617664
HP:0001252	Hypotonia	4141	MARS1	OMIM:615486
HP:0001252	Hypotonia	10528	NOP56	OMIM:614153
HP:0001252	Hypotonia	1841	DTYMK	OMIM:619847
HP:0001252	Hypotonia	6487	ST3GAL3	OMIM:615006
HP:0001252	Hypotonia	7532	YWHAG	OMIM:617665
HP:0001252	Hypotonia	318	NUDT2	OMIM:619844
HP:0001252	Hypotonia	2132	EXT2	ORPHA:466926
HP:0001252	Hypotonia	2132	EXT2	OMIM:616682
HP:0001252	Hypotonia	55636	CHD7	ORPHA:138
HP:0001252	Hypotonia	55636	CHD7	ORPHA:478
HP:0001252	Hypotonia	9723	SEMA3E	ORPHA:138
HP:0001252	Hypotonia	288	ANK3	OMIM:615493
HP:0001252	Hypotonia	288	ANK3	ORPHA:356996
HP:0001252	Hypotonia	23321	TRIM2	OMIM:615490
HP:0001252	Hypotonia	1759	DNM1	OMIM:616346
HP:0001252	Hypotonia	1759	DNM1	OMIM:620352
HP:0001252	Hypotonia	2770	GNAI1	OMIM:619854
HP:0001252	Hypotonia	1716	DGUOK	OMIM:251880
HP:0001252	Hypotonia	1105	CHD1	OMIM:617682
HP:0001252	Hypotonia	1594	CYP27B1	OMIM:264700
HP:0001252	Hypotonia	55065	SLC52A1	OMIM:615026
HP:0001252	Hypotonia	9895	TECPR2	OMIM:615031
HP:0001252	Hypotonia	26038	CHD5	OMIM:619873
HP:0001252	Hypotonia	3737	KCNA2	OMIM:616366
HP:0001252	Hypotonia	57680	CHD8	OMIM:615032
HP:0001252	Hypotonia	92609	TIMM50	OMIM:617698
HP:0001252	Hypotonia	92609	TIMM50	ORPHA:505216
HP:0001252	Hypotonia	51692	CPSF3	OMIM:619876
HP:0001252	Hypotonia	5590	PRKCZ	ORPHA:1606
HP:0001252	Hypotonia	23013	SPEN	ORPHA:1606
HP:0001252	Hypotonia	23013	SPEN	OMIM:619312
HP:0001252	Hypotonia	8510	MMP23B	ORPHA:1606
HP:0001252	Hypotonia	7798	LUZP1	ORPHA:1606
HP:0001252	Hypotonia	10630	PDPN	ORPHA:1606
HP:0001252	Hypotonia	3339	HSPG2	ORPHA:1606
HP:0001252	Hypotonia	10277	UBE4B	ORPHA:1606
HP:0001252	Hypotonia	8514	KCNAB2	ORPHA:1606
HP:0001252	Hypotonia	63976	PRDM16	ORPHA:1606
HP:0001252	Hypotonia	54897	CASZ1	ORPHA:1606
HP:0001252	Hypotonia	148789	B3GALNT2	ORPHA:588
HP:0001252	Hypotonia	148789	B3GALNT2	ORPHA:899
HP:0001252	Hypotonia	55624	POMGNT1	ORPHA:588
HP:0001252	Hypotonia	55624	POMGNT1	ORPHA:899
HP:0001252	Hypotonia	2990	GUSB	ORPHA:584
HP:0001252	Hypotonia	4644	MYO5A	ORPHA:33445
HP:0001252	Hypotonia	4644	MYO5A	OMIM:214450
HP:0001252	Hypotonia	56098	PCDHGC4	OMIM:619880
HP:0001252	Hypotonia	27068	PPA2	OMIM:617222
HP:0001252	Hypotonia	4285	MIPEP	OMIM:617228
HP:0001252	Hypotonia	2555	GABRA2	OMIM:618557
HP:0001252	Hypotonia	57192	MCOLN1	ORPHA:578
HP:0001252	Hypotonia	57192	MCOLN1	OMIM:252650
HP:0001252	Hypotonia	124583	CANT1	OMIM:251450
HP:0001252	Hypotonia	38	ACAT1	ORPHA:134
HP:0001252	Hypotonia	4351	MPI	OMIM:602579
HP:0001252	Hypotonia	3798	KIF5A	OMIM:617235
HP:0001252	Hypotonia	8565	YARS1	OMIM:619418
HP:0001252	Hypotonia	64919	BCL11B	OMIM:617237
HP:0001252	Hypotonia	64919	BCL11B	OMIM:618092
HP:0001252	Hypotonia	84295	PHF6	ORPHA:127
HP:0001252	Hypotonia	84295	PHF6	OMIM:301900
HP:0001252	Hypotonia	1967	EIF2B1	OMIM:603896
HP:0001252	Hypotonia	85300	ATCAY	OMIM:601238
HP:0001252	Hypotonia	205327	C2orf69	OMIM:619423
HP:0001252	Hypotonia	26173	INTS1	OMIM:618571
HP:0001252	Hypotonia	27429	HTRA2	OMIM:617248
HP:0001252	Hypotonia	1642	DDB1	OMIM:619426
HP:0001252	Hypotonia	389827	MYMK	OMIM:254940
HP:0001252	Hypotonia	389827	MYMK	ORPHA:1358
HP:0001252	Hypotonia	410	ARSA	OMIM:250100
HP:0001252	Hypotonia	56896	DPYSL5	OMIM:619435
HP:0001252	Hypotonia	4967	OGDH	OMIM:203740
HP:0001252	Hypotonia	128869	PIGU	OMIM:618590
HP:0001252	Hypotonia	5980	REV3L	ORPHA:570
HP:0001252	Hypotonia	23129	PLXND1	ORPHA:570
HP:0001252	Hypotonia	3039	HBA1	ORPHA:98791
HP:0001252	Hypotonia	3040	HBA2	ORPHA:98791
HP:0001252	Hypotonia	7084	TK2	ORPHA:254875
HP:0001252	Hypotonia	7084	TK2	OMIM:609560
HP:0001252	Hypotonia	8888	MCM3AP	OMIM:618124
HP:0001252	Hypotonia	537	ATP6AP1	OMIM:300972
HP:0001252	Hypotonia	3376	IARS1	ORPHA:541423
HP:0001252	Hypotonia	3376	IARS1	OMIM:617093
HP:0001252	Hypotonia	1312	COMT	ORPHA:567
HP:0001252	Hypotonia	221037	JMJD1C	ORPHA:567
HP:0001252	Hypotonia	2812	GP1BB	ORPHA:567
HP:0001252	Hypotonia	6239	RREB1	ORPHA:567
HP:0001252	Hypotonia	6899	TBX1	ORPHA:567
HP:0001252	Hypotonia	6899	TBX1	ORPHA:1727
HP:0001252	Hypotonia	6899	TBX1	OMIM:192430
HP:0001252	Hypotonia	7290	HIRA	ORPHA:567
HP:0001252	Hypotonia	9632	SEC24C	ORPHA:567
HP:0001252	Hypotonia	7353	UFD1	ORPHA:567
HP:0001252	Hypotonia	421	ARVCF	ORPHA:567
HP:0001252	Hypotonia	538	ATP7A	ORPHA:565
HP:0001252	Hypotonia	538	ATP7A	ORPHA:198
HP:0001252	Hypotonia	538	ATP7A	OMIM:309400
HP:0001252	Hypotonia	6045	RNF2	OMIM:619460
HP:0001252	Hypotonia	51102	MECR	OMIM:617282
HP:0001252	Hypotonia	51102	MECR	ORPHA:508093
HP:0001252	Hypotonia	7809	BSND	OMIM:602522
HP:0001252	Hypotonia	7809	BSND	ORPHA:89938
HP:0001252	Hypotonia	3188	HNRNPH2	OMIM:300986
HP:0001252	Hypotonia	4548	MTR	OMIM:250940
HP:0001252	Hypotonia	84065	TMEM222	OMIM:619470
HP:0001252	Hypotonia	11212	PLPBP	OMIM:617290
HP:0001252	Hypotonia	2290	FOXG1	ORPHA:261144
HP:0001252	Hypotonia	57187	THOC2	OMIM:300957
HP:0001252	Hypotonia	57187	THOC2	ORPHA:457240
HP:0001252	Hypotonia	10526	IPO8	OMIM:619472
HP:0001252	Hypotonia	6711	SPTBN1	OMIM:619475
HP:0001252	Hypotonia	2131	EXT1	ORPHA:502
HP:0001252	Hypotonia	8567	MADD	OMIM:619004
HP:0001252	Hypotonia	374879	ZNF699	OMIM:619488
HP:0001252	Hypotonia	28952	CCDC22	OMIM:300963
HP:0001252	Hypotonia	28952	CCDC22	ORPHA:7
HP:0001252	Hypotonia	9373	PLAA	ORPHA:521426
HP:0001252	Hypotonia	9373	PLAA	OMIM:617527
HP:0001252	Hypotonia	1654	DDX3X	OMIM:300958
HP:0001252	Hypotonia	10681	GNB5	ORPHA:542306
HP:0001252	Hypotonia	10681	GNB5	OMIM:617173
HP:0001252	Hypotonia	10681	GNB5	OMIM:617182
HP:0001252	Hypotonia	673	BRAF	OMIM:613706
HP:0001252	Hypotonia	673	BRAF	OMIM:115150
HP:0001252	Hypotonia	673	BRAF	ORPHA:1340
HP:0001252	Hypotonia	80267	EDEM3	OMIM:619493
HP:0001252	Hypotonia	6748	SSR4	OMIM:300934
HP:0001252	Hypotonia	84231	TRAF7	OMIM:618164
HP:0001252	Hypotonia	63899	NSUN3	OMIM:619012
HP:0001252	Hypotonia	92344	GORAB	ORPHA:2078
HP:0001252	Hypotonia	5831	PYCR1	ORPHA:2078
HP:0001252	Hypotonia	1073	CFL2	OMIM:610687
HP:0001252	Hypotonia	9897	WASHC5	ORPHA:7
HP:0001252	Hypotonia	9897	WASHC5	OMIM:220210
HP:0001252	Hypotonia	114034	TOE1	ORPHA:284339
HP:0001252	Hypotonia	114034	TOE1	OMIM:614969
HP:0001252	Hypotonia	5860	QDPR	OMIM:261630
HP:0001252	Hypotonia	1496	CTNNA2	OMIM:618174
HP:0001252	Hypotonia	8910	SGCE	OMIM:159900
HP:0001252	Hypotonia	51002	TPRKB	ORPHA:2065
HP:0001252	Hypotonia	57122	NUP107	ORPHA:2065
HP:0001252	Hypotonia	10785	WDR4	ORPHA:2065
HP:0001252	Hypotonia	8270	LAGE3	ORPHA:2065
HP:0001252	Hypotonia	8270	LAGE3	OMIM:301006
HP:0001252	Hypotonia	55294	FBXW7	OMIM:620012
HP:0001252	Hypotonia	65055	REEP1	OMIM:620011
HP:0001252	Hypotonia	23241	PACS2	OMIM:618067
HP:0001252	Hypotonia	7148	TNXB	ORPHA:230839
HP:0001252	Hypotonia	161742	SPRED1	OMIM:611431
HP:0001252	Hypotonia	161742	SPRED1	ORPHA:137605
HP:0001252	Hypotonia	118429	ANTXR2	ORPHA:2176
HP:0001252	Hypotonia	80232	WDR26	ORPHA:513456
HP:0001252	Hypotonia	80232	WDR26	OMIM:617616
HP:0001252	Hypotonia	6662	SOX9	OMIM:114290
HP:0001252	Hypotonia	57582	KCNT1	OMIM:614959
HP:0001252	Hypotonia	10225	CD96	OMIM:211750
HP:0001252	Hypotonia	10225	CD96	ORPHA:1308
HP:0001252	Hypotonia	3766	KCNJ10	OMIM:612780
HP:0001252	Hypotonia	64207	IRF2BPL	OMIM:618088
HP:0001252	Hypotonia	84876	ORAI1	OMIM:612782
HP:0001252	Hypotonia	23522	KAT6B	OMIM:606170
HP:0001252	Hypotonia	23522	KAT6B	OMIM:603736
HP:0001252	Hypotonia	23522	KAT6B	ORPHA:3047
HP:0001252	Hypotonia	966	CD59	OMIM:612300
HP:0001252	Hypotonia	6786	STIM1	OMIM:612783
HP:0001252	Hypotonia	5015	OTX2	OMIM:610125
HP:0001252	Hypotonia	5238	PGM3	OMIM:615816
HP:0001252	Hypotonia	23325	WASHC4	OMIM:615817
HP:0001252	Hypotonia	80856	LNPK	OMIM:618090
HP:0001252	Hypotonia	6885	MAP3K7	OMIM:157800
HP:0001252	Hypotonia	11232	POLG2	OMIM:610131
HP:0001252	Hypotonia	1954	MEGF8	OMIM:614976
HP:0001252	Hypotonia	84300	UQCC2	OMIM:615824
HP:0001252	Hypotonia	113235	SLC46A1	OMIM:229050
HP:0001252	Hypotonia	165	AEBP1	ORPHA:536532
HP:0001252	Hypotonia	3192	HNRNPU	ORPHA:238769
HP:0001252	Hypotonia	1629	DBT	OMIM:248600
HP:0001252	Hypotonia	593	BCKDHA	OMIM:248600
HP:0001252	Hypotonia	594	BCKDHB	OMIM:248600
HP:0001252	Hypotonia	5063	PAK3	OMIM:300558
HP:0001252	Hypotonia	5626	PROP1	ORPHA:226307
HP:0001252	Hypotonia	89884	LHX4	ORPHA:226307
HP:0001252	Hypotonia	8022	LHX3	ORPHA:226307
HP:0001252	Hypotonia	8820	HESX1	ORPHA:226307
HP:0001252	Hypotonia	8820	HESX1	ORPHA:478
HP:0001252	Hypotonia	79753	SNIP1	OMIM:614501
HP:0001252	Hypotonia	3418	IDH2	OMIM:613657
HP:0001252	Hypotonia	1650	DDOST	OMIM:614507
HP:0001252	Hypotonia	54499	TMCO1	OMIM:213980
HP:0001252	Hypotonia	50506	DUOX2	ORPHA:226316
HP:0001252	Hypotonia	50506	DUOX2	ORPHA:95716
HP:0001252	Hypotonia	1910	EDNRB	OMIM:277580
HP:0001252	Hypotonia	10472	ZBTB18	OMIM:612337
HP:0001252	Hypotonia	340024	SLC6A19	ORPHA:2116
HP:0001252	Hypotonia	57393	CLTRN	ORPHA:2116
HP:0001252	Hypotonia	2146	EZH2	OMIM:277590
HP:0001252	Hypotonia	51067	YARS2	ORPHA:2598
HP:0001252	Hypotonia	51067	YARS2	OMIM:613561
HP:0001252	Hypotonia	3242	HPD	ORPHA:2118
HP:0001252	Hypotonia	55023	PHIP	ORPHA:589905
HP:0001252	Hypotonia	55023	PHIP	OMIM:617991
HP:0001252	Hypotonia	91949	COG7	OMIM:608779
HP:0001252	Hypotonia	91949	COG7	ORPHA:79333
HP:0001252	Hypotonia	64116	SLC39A8	OMIM:616721
HP:0001252	Hypotonia	6948	TCN2	OMIM:275350
HP:0001252	Hypotonia	55593	OTUD5	OMIM:301056
HP:0001252	Hypotonia	2258	FGF13	OMIM:301058
HP:0001252	Hypotonia	3748	KCNC3	OMIM:605259
HP:0001252	Hypotonia	5160	PDHA1	OMIM:312170
HP:0001252	Hypotonia	5160	PDHA1	ORPHA:255241
HP:0001252	Hypotonia	5160	PDHA1	ORPHA:79243
HP:0001252	Hypotonia	10229	COQ7	OMIM:616733
HP:0001252	Hypotonia	50	ACO2	OMIM:614559
HP:0001252	Hypotonia	10982	MAPRE2	OMIM:616734
HP:0001252	Hypotonia	55033	FKBP14	OMIM:614557
HP:0001252	Hypotonia	84679	SLC9A7	OMIM:301024
HP:0001252	Hypotonia	63035	BCORL1	OMIM:301029
HP:0001252	Hypotonia	4361	MRE11	OMIM:604391
HP:0001252	Hypotonia	5422	POLA1	OMIM:301030
HP:0001252	Hypotonia	23028	KDM1A	ORPHA:477993
HP:0001252	Hypotonia	79576	NKAP	OMIM:301039
HP:0001252	Hypotonia	83696	TRAPPC9	ORPHA:352530
HP:0001252	Hypotonia	56479	KCNQ5	OMIM:617601
HP:0001252	Hypotonia	23152	CIC	OMIM:617600
HP:0001252	Hypotonia	59341	TRPV4	ORPHA:1216
HP:0001252	Hypotonia	60	ACTB	OMIM:243310
HP:0001252	Hypotonia	23476	BRD4	ORPHA:199
HP:0001252	Hypotonia	9126	SMC3	ORPHA:199
HP:0001252	Hypotonia	25836	NIPBL	ORPHA:199
HP:0001252	Hypotonia	55869	HDAC8	ORPHA:199
HP:0001252	Hypotonia	5885	RAD21	ORPHA:199
HP:0001252	Hypotonia	51520	LARS1	OMIM:615438
HP:0001252	Hypotonia	4329	ALDH6A1	OMIM:614105
HP:0001252	Hypotonia	3425	IDUA	ORPHA:93473
HP:0001252	Hypotonia	26503	SLC17A5	OMIM:604369
HP:0001252	Hypotonia	26503	SLC17A5	OMIM:269920
HP:0001252	Hypotonia	60528	ELAC2	OMIM:615440
HP:0001252	Hypotonia	80210	ARMC9	OMIM:617622
HP:0001252	Hypotonia	80210	ARMC9	ORPHA:475
HP:0001252	Hypotonia	3832	KIF11	ORPHA:2526
HP:0001252	Hypotonia	5294	PIK3CG	OMIM:619802
HP:0001252	Hypotonia	113246	C12orf57	OMIM:218340
HP:0001252	Hypotonia	6389	SDHA	ORPHA:255241
HP:0001252	Hypotonia	51204	TACO1	ORPHA:255241
HP:0001252	Hypotonia	4722	NDUFS3	ORPHA:255241
HP:0001252	Hypotonia	4722	NDUFS3	ORPHA:2609
HP:0001252	Hypotonia	79133	NDUFAF5	ORPHA:255241
HP:0001252	Hypotonia	79133	NDUFAF5	ORPHA:2609
HP:0001252	Hypotonia	100131801	PET100	ORPHA:255241
HP:0001252	Hypotonia	1892	ECHS1	ORPHA:255241
HP:0001252	Hypotonia	1892	ECHS1	OMIM:616277
HP:0001252	Hypotonia	374291	NDUFS7	ORPHA:255241
HP:0001252	Hypotonia	374291	NDUFS7	ORPHA:2609
HP:0001252	Hypotonia	4695	NDUFA2	ORPHA:255241
HP:0001252	Hypotonia	4697	NDUFA4	ORPHA:255241
HP:0001252	Hypotonia	4704	NDUFA9	ORPHA:255241
HP:0001252	Hypotonia	128637	TBC1D20	ORPHA:2510
HP:0001252	Hypotonia	1140	CHRNB1	OMIM:616314
HP:0001252	Hypotonia	1140	CHRNB1	OMIM:616313
HP:0001252	Hypotonia	4716	NDUFB10	ORPHA:2609
HP:0001252	Hypotonia	284184	NDUFAF8	ORPHA:2609
HP:0001252	Hypotonia	55863	TMEM126B	ORPHA:2609
HP:0001252	Hypotonia	4726	NDUFS6	ORPHA:2609
HP:0001252	Hypotonia	126328	NDUFA11	ORPHA:2609
HP:0001252	Hypotonia	80224	NUBPL	ORPHA:2609
HP:0001252	Hypotonia	29078	NDUFAF4	ORPHA:2609
HP:0001252	Hypotonia	4099	MAG	OMIM:616680
HP:0001252	Hypotonia	3265	HRAS	ORPHA:2612
HP:0001252	Hypotonia	2895	GRID2	OMIM:616204
HP:0001252	Hypotonia	8425	LTBP4	OMIM:613177
HP:0001252	Hypotonia	51126	NAA20	OMIM:619717
HP:0001252	Hypotonia	10060	ABCC9	OMIM:619719
HP:0001252	Hypotonia	124997	WDR81	ORPHA:1766
HP:0001252	Hypotonia	51761	ATP8A2	ORPHA:1766
HP:0001252	Hypotonia	767	CA8	ORPHA:1766
HP:0001252	Hypotonia	7849	PAX8	OMIM:218700
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95720
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95713
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95712
HP:0001252	Hypotonia	249	ALPL	OMIM:241500
HP:0001252	Hypotonia	3020	H3-3A	OMIM:619720
HP:0001252	Hypotonia	1630	DCC	OMIM:617542
HP:0001252	Hypotonia	1630	DCC	ORPHA:478
HP:0001252	Hypotonia	55790	CSGALNACT1	OMIM:618870
HP:0001252	Hypotonia	4056	LTC4S	OMIM:614037
HP:0001252	Hypotonia	1785	DNM2	OMIM:615368
HP:0001252	Hypotonia	64218	SEMA4A	ORPHA:440437
HP:0001252	Hypotonia	657	BMPR1A	ORPHA:440437
HP:0001252	Hypotonia	6224	RPS20	ORPHA:440437
HP:0001252	Hypotonia	27102	EIF2AK1	OMIM:618878
HP:0001252	Hypotonia	6660	SOX5	ORPHA:313892
HP:0001252	Hypotonia	51319	RSRC1	OMIM:618402
HP:0001252	Hypotonia	85365	ALG2	OMIM:616228
HP:0001252	Hypotonia	84504	NKX6-2	OMIM:617560
HP:0001252	Hypotonia	4763	NF1	ORPHA:363700
HP:0001252	Hypotonia	5442	POLRMT	OMIM:619743
HP:0001252	Hypotonia	39	ACAT2	OMIM:614055
HP:0001252	Hypotonia	4297	KMT2A	ORPHA:319182
HP:0001252	Hypotonia	4297	KMT2A	OMIM:605130
HP:0001252	Hypotonia	84314	TMEM107	OMIM:617563
HP:0001252	Hypotonia	833	CARS1	OMIM:618891
HP:0001252	Hypotonia	4632	MYL1	OMIM:618414
HP:0001252	Hypotonia	79600	TCTN1	ORPHA:475
HP:0001252	Hypotonia	200894	ARL13B	ORPHA:475
HP:0001252	Hypotonia	200894	ARL13B	OMIM:612291
HP:0001252	Hypotonia	9731	CEP104	ORPHA:475
HP:0001252	Hypotonia	219844	HYLS1	ORPHA:475
HP:0001252	Hypotonia	23247	KATNIP	ORPHA:475
HP:0001252	Hypotonia	219854	TMEM218	ORPHA:475
HP:0001252	Hypotonia	9786	KIAA0586	ORPHA:475
HP:0001252	Hypotonia	79867	TCTN2	ORPHA:475
HP:0001252	Hypotonia	79867	TCTN2	OMIM:616654
HP:0001252	Hypotonia	80776	B9D2	ORPHA:475
HP:0001252	Hypotonia	23116	TOGARAM1	ORPHA:475
HP:0001252	Hypotonia	25776	CBY1	ORPHA:475
HP:0001252	Hypotonia	403	ARL3	ORPHA:475
HP:0001252	Hypotonia	54880	BCOR	OMIM:309800
HP:0001252	Hypotonia	51604	PIGT	OMIM:615398
HP:0001252	Hypotonia	51604	PIGT	ORPHA:369837
HP:0001252	Hypotonia	142680	SLC34A3	OMIM:241530
HP:0001252	Hypotonia	8363	H4C11	OMIM:619759
HP:0001252	Hypotonia	7531	YWHAE	ORPHA:217385
HP:0001252	Hypotonia	8021	NUP214	OMIM:618426
HP:0001252	Hypotonia	8364	H4C3	OMIM:619758
HP:0001252	Hypotonia	23474	ETHE1	OMIM:602473
HP:0001252	Hypotonia	8517	IKBKG	ORPHA:464
HP:0001252	Hypotonia	79796	ALG9	ORPHA:79328
HP:0001252	Hypotonia	4247	MGAT2	ORPHA:79329
HP:0001252	Hypotonia	8314	BAP1	OMIM:619762
HP:0001252	Hypotonia	27086	FOXP1	ORPHA:391372
HP:0001252	Hypotonia	6942	TCF20	OMIM:618430
HP:0001252	Hypotonia	9993	DGCR2	OMIM:192430
HP:0001252	Hypotonia	8220	ESS2	OMIM:192430
HP:0001252	Hypotonia	8214	DGCR6	OMIM:192430
HP:0001252	Hypotonia	54487	DGCR8	OMIM:192430
HP:0001252	Hypotonia	51341	ZBTB7A	OMIM:619769
HP:0001252	Hypotonia	9338	TCEAL1	OMIM:301094
HP:0001252	Hypotonia	2271	FH	OMIM:606812
HP:0001252	Hypotonia	23556	PIGN	OMIM:614080
HP:0001252	Hypotonia	7030	TFE3	OMIM:301066
HP:0001252	Hypotonia	51651	PTRH2	OMIM:616263
HP:0001252	Hypotonia	23162	MAPK8IP3	OMIM:618443
HP:0001252	Hypotonia	4123	MAN2C1	OMIM:619775
HP:0001252	Hypotonia	54941	RNF125	OMIM:616260
HP:0001252	Hypotonia	367	AR	ORPHA:481
HP:0001252	Hypotonia	51645	PPIL1	OMIM:619301
HP:0001252	Hypotonia	8295	TRRAP	OMIM:618454
HP:0001252	Hypotonia	4509	MT-ATP8	ORPHA:480
HP:0001252	Hypotonia	51362	CDC40	OMIM:619302
HP:0001252	Hypotonia	51117	COQ4	OMIM:616276
HP:0001252	Hypotonia	51013	EXOSC1	OMIM:619304
HP:0001252	Hypotonia	846	CASR	OMIM:239200
HP:0001252	Hypotonia	846	CASR	ORPHA:417
HP:0001252	Hypotonia	10371	SEMA3A	ORPHA:478
HP:0001252	Hypotonia	81848	SPRY4	ORPHA:478
HP:0001252	Hypotonia	23767	FLRT3	ORPHA:478
HP:0001252	Hypotonia	128674	PROKR2	ORPHA:478
HP:0001252	Hypotonia	79625	NDNF	ORPHA:478
HP:0001252	Hypotonia	389549	FEZF1	ORPHA:478
HP:0001252	Hypotonia	3730	ANOS1	ORPHA:478
HP:0001252	Hypotonia	54756	IL17RD	ORPHA:478
HP:0001252	Hypotonia	285025	CCDC141	ORPHA:478
HP:0001252	Hypotonia	60675	PROK2	ORPHA:478
HP:0001252	Hypotonia	1848	DUSP6	ORPHA:478
HP:0001252	Hypotonia	6870	TACR3	ORPHA:478
HP:0001252	Hypotonia	55717	WDR11	ORPHA:478
HP:0001252	Hypotonia	9394	HS6ST1	ORPHA:478
HP:0001252	Hypotonia	8822	FGF17	ORPHA:478
HP:0001252	Hypotonia	79944	L2HGDH	ORPHA:79314
HP:0001252	Hypotonia	84706	GPT2	OMIM:616281
HP:0001252	Hypotonia	5898	RALA	OMIM:619311
HP:0001252	Hypotonia	54892	NCAPG2	OMIM:618460
HP:0001252	Hypotonia	112	ADCY6	OMIM:616287
HP:0001252	Hypotonia	112	ADCY6	ORPHA:2680
HP:0001252	Hypotonia	8506	CNTNAP1	OMIM:616286
HP:0001252	Hypotonia	8506	CNTNAP1	ORPHA:2680
HP:0001252	Hypotonia	9256	TSPOAP1	ORPHA:101150
HP:0001252	Hypotonia	10102	TSFM	OMIM:610505
HP:0001252	Hypotonia	22854	NTNG1	ORPHA:3095
HP:0001252	Hypotonia	9568	GABBR2	ORPHA:3095
HP:0001252	Hypotonia	2623	GATA1	OMIM:190685
HP:0001252	Hypotonia	29998	BICRA	OMIM:619325
HP:0001252	Hypotonia	55503	TRPV6	ORPHA:417
HP:0001252	Hypotonia	84892	POMGNT2	ORPHA:899
HP:0001252	Hypotonia	84892	POMGNT2	OMIM:614830
HP:0001252	Hypotonia	1282	COL4A1	ORPHA:899
HP:0001252	Hypotonia	10329	RXYLT1	ORPHA:899
HP:0001252	Hypotonia	84197	POMK	ORPHA:899
HP:0001252	Hypotonia	8869	ST3GAL5	OMIM:609056
HP:0001252	Hypotonia	25929	GEMIN5	OMIM:619333
HP:0001252	Hypotonia	2560	GABRB1	OMIM:617153
HP:0001252	Hypotonia	23221	RHOBTB2	OMIM:618004
HP:0001252	Hypotonia	2530	FUT8	OMIM:618005
HP:0001252	Hypotonia	1108	CHD4	OMIM:617159
HP:0001252	Hypotonia	9969	MED13	OMIM:618009
HP:0001252	Hypotonia	23389	MED13L	ORPHA:369891
HP:0001252	Hypotonia	6712	SPTBN2	OMIM:600224
HP:0001252	Hypotonia	8091	HMGA2	ORPHA:94063
HP:0001252	Hypotonia	23592	LEMD3	ORPHA:94063
HP:0001252	Hypotonia	26276	VPS33B	OMIM:208085
HP:0001252	Hypotonia	774	CACNA1B	OMIM:618497
HP:0001252	Hypotonia	1822	ATN1	OMIM:618494
HP:0001252	Hypotonia	4126	MANBA	OMIM:248510
HP:0001252	Hypotonia	3930	LBR	OMIM:618019
HP:0001252	Hypotonia	1280	COL2A1	OMIM:183900
HP:0001252	Hypotonia	9791	PTDSS1	OMIM:151050
HP:0001252	Hypotonia	9791	PTDSS1	ORPHA:2658
HP:0001252	Hypotonia	5457	POU4F1	OMIM:619352
HP:0001252	Hypotonia	26005	C2CD3	ORPHA:434179
HP:0001252	Hypotonia	57514	ARHGAP31	OMIM:100300
HP:0001252	Hypotonia	788	SLC25A20	OMIM:212138
HP:0001252	Hypotonia	8086	AAAS	ORPHA:869
HP:0001252	Hypotonia	285590	SH3PXD2B	OMIM:249420
HP:0001252	Hypotonia	128240	NAXE	OMIM:617186
HP:0001252	Hypotonia	226	ALDOA	OMIM:611881
HP:0001252	Hypotonia	539	ATP5PO	OMIM:620359
HP:0001252	Hypotonia	1028	CDKN1C	ORPHA:85173
HP:0001252	Hypotonia	5426	POLE	ORPHA:85173
HP:0001252	Hypotonia	55252	ASXL2	OMIM:617190
HP:0001252	Hypotonia	1984	EIF5A	OMIM:619376
HP:0001252	Hypotonia	210	ALAD	OMIM:612740
HP:0001252	Hypotonia	5236	PGM1	OMIM:614921
HP:0001252	Hypotonia	3295	HSD17B4	OMIM:261515
HP:0001252	Hypotonia	55074	OXR1	OMIM:213000
HP:0001252	Hypotonia	129285	PPP1R21	OMIM:619383
HP:0001252	Hypotonia	9054	NFS1	OMIM:619386
HP:0001252	Hypotonia	6584	SLC22A5	OMIM:212140
HP:0001252	Hypotonia	4702	NDUFA8	OMIM:619272
HP:0001252	Hypotonia	27183	VPS4A	OMIM:619273
HP:0001252	Hypotonia	10128	LRPPRC	OMIM:220111
HP:0001252	Hypotonia	10128	LRPPRC	ORPHA:70472
HP:0001252	Hypotonia	158	ADSL	OMIM:103050
HP:0001252	Hypotonia	4574	MT-TS1	OMIM:220110
HP:0001252	Hypotonia	4570	MT-TN	OMIM:220110
HP:0001252	Hypotonia	55777	MBD5	ORPHA:228402
HP:0001252	Hypotonia	10479	SLC9A6	OMIM:300243
HP:0001252	Hypotonia	8443	GNPAT	OMIM:222765
HP:0001252	Hypotonia	9442	MED27	OMIM:619286
HP:0001252	Hypotonia	51360	MBTPS2	ORPHA:2273
HP:0001252	Hypotonia	3899	AFF3	OMIM:619297
HP:0001252	Hypotonia	36	ACADSB	OMIM:610006
HP:0001252	Hypotonia	4338	MOCS2	OMIM:252160
HP:0001252	Hypotonia	649	BMP1	OMIM:614856
HP:0001252	Hypotonia	2752	GLUL	OMIM:610015
HP:0001252	Hypotonia	5826	ABCD4	OMIM:614857
HP:0001252	Hypotonia	6804	STX1A	ORPHA:904
HP:0001252	Hypotonia	7461	CLIP2	ORPHA:904
HP:0001252	Hypotonia	84277	DNAJC30	ORPHA:904
HP:0001252	Hypotonia	8468	FKBP6	ORPHA:904
HP:0001252	Hypotonia	5982	RFC2	ORPHA:904
HP:0001252	Hypotonia	2969	GTF2I	ORPHA:904
HP:0001252	Hypotonia	3984	LIMK1	ORPHA:904
HP:0001252	Hypotonia	9569	GTF2IRD1	ORPHA:904
HP:0001252	Hypotonia	155382	VPS37D	ORPHA:904
HP:0001252	Hypotonia	155368	METTL27	ORPHA:904
HP:0001252	Hypotonia	114049	BUD23	ORPHA:904
HP:0001252	Hypotonia	7458	EIF4H	ORPHA:904
HP:0001252	Hypotonia	84163	GTF2IRD2	ORPHA:904
HP:0001252	Hypotonia	9275	BCL7B	ORPHA:904
HP:0001252	Hypotonia	26608	TBL2	ORPHA:904
HP:0001252	Hypotonia	653361	NCF1	ORPHA:904
HP:0001252	Hypotonia	135886	TMEM270	ORPHA:904
HP:0001252	Hypotonia	9031	BAZ1B	ORPHA:904
HP:0001252	Hypotonia	11340	EXOSC8	ORPHA:2254
HP:0001252	Hypotonia	4952	OCRL	OMIM:309000
HP:0001252	Hypotonia	728294	D2HGDH	OMIM:600721
HP:0001252	Hypotonia	471	ATIC	OMIM:608688
HP:0001252	Hypotonia	9342	SNAP29	OMIM:609528
HP:0001252	Hypotonia	254065	BRWD3	OMIM:300659
HP:0001252	Hypotonia	50628	GEMIN4	OMIM:617913
HP:0001252	Hypotonia	1384	CRAT	OMIM:617917
HP:0001252	Hypotonia	2273	FHL1	ORPHA:98863
HP:0001252	Hypotonia	2010	EMD	ORPHA:98863
HP:0001252	Hypotonia	3329	HSPD1	OMIM:612233
HP:0001252	Hypotonia	6310	ATXN1	OMIM:164400
HP:0001252	Hypotonia	79188	TMEM43	ORPHA:98853
HP:0001252	Hypotonia	23224	SYNE2	ORPHA:98853
HP:0001252	Hypotonia	2632	GBE1	OMIM:232500
HP:0001252	Hypotonia	6328	SCN3A	OMIM:617935
HP:0001252	Hypotonia	7545	ZIC1	OMIM:616602
HP:0001252	Hypotonia	27249	MMADHC	OMIM:277410
HP:0001252	Hypotonia	5859	QARS1	OMIM:615760
HP:0001252	Hypotonia	79631	EFL1	OMIM:617941
HP:0001252	Hypotonia	7280	TUBB2A	OMIM:615763
HP:0001252	Hypotonia	30008	EFEMP2	OMIM:614437
HP:0001252	Hypotonia	5172	SLC26A4	ORPHA:95720
HP:0001252	Hypotonia	5172	SLC26A4	ORPHA:95713
HP:0001252	Hypotonia	101929726	MYMX	ORPHA:1358
HP:0001252	Hypotonia	51116	MRPS2	OMIM:617950
HP:0001252	Hypotonia	9512	PMPCB	OMIM:617954
HP:0001252	Hypotonia	405753	DUOXA2	ORPHA:95716
HP:0001252	Hypotonia	6528	SLC5A5	ORPHA:95716
HP:0001252	Hypotonia	7038	TG	ORPHA:95716
HP:0001252	Hypotonia	7173	TPO	ORPHA:95716
HP:0001252	Hypotonia	389434	IYD	ORPHA:95716
HP:0001252	Hypotonia	1482	NKX2-5	ORPHA:95713
HP:0001252	Hypotonia	1482	NKX2-5	ORPHA:95712
HP:0001252	Hypotonia	2304	FOXE1	ORPHA:95713
HP:0001252	Hypotonia	64131	XYLT1	OMIM:615777
HP:0001252	Hypotonia	54664	TMEM106B	OMIM:617964
HP:0001252	Hypotonia	7421	VDR	OMIM:277440
HP:0001252	Hypotonia	1729	DIAPH1	OMIM:616632
HP:0001252	Hypotonia	175	AGA	OMIM:208400
HP:0001252	Hypotonia	27010	TPK1	OMIM:614458
HP:0001252	Hypotonia	11019	LIAS	OMIM:614462
HP:0001252	Hypotonia	23630	KCNE5	ORPHA:86818
HP:0001252	Hypotonia	9949	AMMECR1	ORPHA:86818
HP:0001252	Hypotonia	5162	PDHB	ORPHA:255138
HP:0001252	Hypotonia	51305	KCNK9	OMIM:612292
HP:0001252	Hypotonia	100151683	RNU4ATAC	OMIM:616651
HP:0001252	Hypotonia	54870	QRICH1	OMIM:617982
HP:0001252	Hypotonia	2670	GFAP	ORPHA:363717
HP:0001252	Hypotonia	55704	CCDC88A	OMIM:617507
HP:0001252	Hypotonia	5500	PPP1CB	OMIM:617506
HP:0001252	Hypotonia	54676	GTPBP2	OMIM:617988
HP:0001252	Hypotonia	9197	SLC33A1	OMIM:614482
HP:0001252	Hypotonia	200205	IBA57	OMIM:615330
HP:0001252	Hypotonia	25974	MMACHC	ORPHA:79282
HP:0001252	Hypotonia	25974	MMACHC	OMIM:277400
HP:0001252	Hypotonia	2639	GCDH	OMIM:231670
HP:0001252	Hypotonia	51733	UPB1	OMIM:613161
HP:0001252	Hypotonia	18	ABAT	OMIM:613163
HP:0001252	Hypotonia	79587	CARS2	OMIM:616672
HP:0001252	Hypotonia	9181	ARHGEF2	OMIM:617523
HP:0001252	Hypotonia	2108	ETFA	OMIM:231680
HP:0001252	Hypotonia	2109	ETFB	OMIM:231680
HP:0001252	Hypotonia	2110	ETFDH	OMIM:231680
HP:0001252	Hypotonia	5052	PRDX1	OMIM:277400
HP:0001252	Hypotonia	2582	GALE	OMIM:230350
HP:0001252	Hypotonia	8036	SHOC2	OMIM:607721
HP:0001252	Hypotonia	23019	CNOT1	OMIM:618500
HP:0001252	Hypotonia	23019	CNOT1	OMIM:619033
HP:0001252	Hypotonia	28981	IFT81	OMIM:617895
HP:0001252	Hypotonia	50651	SLC45A1	OMIM:617532
HP:0001252	Hypotonia	51569	UFM1	OMIM:617899
HP:0001252	Hypotonia	1024	CDK8	OMIM:618748
HP:0001252	Hypotonia	6228	RPS23	OMIM:617412
HP:0001252	Hypotonia	84334	COA8	ORPHA:436271
HP:0001252	Hypotonia	116931	MED12L	OMIM:618872
HP:0001252	Hypotonia	10026	PIGK	OMIM:618879
HP:0001252	Hypotonia	55904	KMT2E	OMIM:618512
HP:0001252	Hypotonia	10559	SLC35A1	OMIM:603585
HP:0001252	Hypotonia	2590	GALNT2	OMIM:618885
HP:0001252	Hypotonia	55154	MSTO1	OMIM:617675
HP:0001252	Hypotonia	55154	MSTO1	ORPHA:502423
HP:0001252	Hypotonia	4620	MYH2	OMIM:605637
HP:0001252	Hypotonia	6872	TAF1	ORPHA:480907
HP:0001252	Hypotonia	6872	TAF1	OMIM:300966
HP:0001252	Hypotonia	8726	EED	OMIM:617561
HP:0001252	Hypotonia	4330	MN1	OMIM:618774
HP:0001252	Hypotonia	88	ACTN2	OMIM:618654
HP:0001252	Hypotonia	388962	BOLA3	OMIM:614299
HP:0001252	Hypotonia	22906	TRAK1	ORPHA:442835
HP:0001252	Hypotonia	2561	GABRB2	ORPHA:442835
HP:0001252	Hypotonia	2558	GABRA5	ORPHA:442835
HP:0001252	Hypotonia	2558	GABRA5	OMIM:618559
HP:0001252	Hypotonia	22866	CNKSR2	ORPHA:442835
HP:0001252	Hypotonia	55152	DALRD3	ORPHA:442835
HP:0001252	Hypotonia	55152	DALRD3	OMIM:618910
HP:0001252	Hypotonia	26999	CYFIP2	ORPHA:442835
HP:0001252	Hypotonia	26999	CYFIP2	OMIM:618008
HP:0001252	Hypotonia	23097	CDK19	ORPHA:442835
HP:0001252	Hypotonia	284439	SLC25A42	OMIM:618416
HP:0001252	Hypotonia	1186	CLCN7	OMIM:618541
HP:0001252	Hypotonia	339983	NAT8L	OMIM:614063
HP:0001252	Hypotonia	23512	SUZ12	OMIM:618786
HP:0001252	Hypotonia	29081	METTL5	OMIM:618665
HP:0001252	Hypotonia	8879	SGPL1	OMIM:617575
HP:0001252	Hypotonia	55773	TBC1D23	OMIM:617695
HP:0001252	Hypotonia	8558	CDK10	OMIM:617694
HP:0001252	Hypotonia	51633	OTUD6B	OMIM:617452
HP:0001252	Hypotonia	51633	OTUD6B	ORPHA:505237
HP:0001252	Hypotonia	122961	ISCA2	OMIM:616370
HP:0001252	Hypotonia	5621	PRNP	ORPHA:157941
HP:0001252	Hypotonia	9772	TMEM94	OMIM:618316
HP:0001252	Hypotonia	51567	TDP2	ORPHA:404493
HP:0001252	Hypotonia	51567	TDP2	OMIM:616949
HP:0001252	Hypotonia	9922	IQSEC1	OMIM:618687
HP:0001252	Hypotonia	2562	GABRB3	OMIM:617113
HP:0001252	Hypotonia	9725	TMEM63A	OMIM:618688
HP:0001252	Hypotonia	404672	GTF2H5	ORPHA:33364
HP:0001252	Hypotonia	7737	RNF113A	ORPHA:33364
HP:0001252	Hypotonia	6897	TARS1	ORPHA:33364
HP:0001252	Hypotonia	2071	ERCC3	ORPHA:33364
HP:0001252	Hypotonia	2961	GTF2E2	ORPHA:33364
HP:0001252	Hypotonia	7040	TGFB1	OMIM:618213
HP:0001252	Hypotonia	5587	PRKD1	OMIM:617364
HP:0001252	Hypotonia	291	SLC25A4	ORPHA:254892
HP:0001252	Hypotonia	291	SLC25A4	OMIM:617184
HP:0001252	Hypotonia	4625	MYH7	ORPHA:324604
HP:0001252	Hypotonia	7273	TTN	ORPHA:324604
HP:0001252	Hypotonia	7273	TTN	ORPHA:169186
HP:0001252	Hypotonia	9488	PIGB	OMIM:618580
HP:0001252	Hypotonia	54517	PUS7	OMIM:618342
HP:0001252	Hypotonia	50814	NSDHL	ORPHA:251383
HP:0001252	Hypotonia	50814	NSDHL	OMIM:300831
HP:0001252	Hypotonia	7681	MKRN3	OMIM:176270
HP:0001252	Hypotonia	3653	IPW	OMIM:176270
HP:0001252	Hypotonia	791114	PWRN1	OMIM:176270
HP:0001252	Hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001252	Hypotonia	8924	HERC2	OMIM:176270
HP:0001252	Hypotonia	8924	HERC2	OMIM:615516
HP:0001252	Hypotonia	145624	PWAR1	OMIM:176270
HP:0001252	Hypotonia	23742	NPAP1	OMIM:176270
HP:0001252	Hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001252	Hypotonia	1120	CHKB	OMIM:602541
HP:0001252	Hypotonia	57520	HECW2	OMIM:617268
HP:0001252	Hypotonia	3417	IDH1	ORPHA:99646
HP:0001252	Hypotonia	28982	FLVCR1	ORPHA:88628
HP:0001252	Hypotonia	51132	RLIM	OMIM:300978
HP:0001252	Hypotonia	11274	USP18	OMIM:617397
HP:0001252	Hypotonia	201163	FLCN	OMIM:610883
HP:0001252	Hypotonia	22827	PUF60	ORPHA:508488
HP:0001252	Hypotonia	1781	DYNC1I2	OMIM:618492
HP:0001252	Hypotonia	56776	FMN2	OMIM:616193
HP:0001252	Hypotonia	23111	SPART	ORPHA:101000
HP:0001252	Hypotonia	4556	MT-TE	ORPHA:254864
HP:0001252	Hypotonia	63931	MRPS14	OMIM:618378
HP:0001252	Hypotonia	54681	P4HTM	OMIM:618493
HP:0001252	Hypotonia	5283	PIGH	OMIM:618010
HP:0001252	Hypotonia	64849	SLC13A3	OMIM:618384
HP:0001252	Hypotonia	348180	CTU2	OMIM:618142
HP:0001252	Hypotonia	94005	PIGS	OMIM:618143
HP:0001252	Hypotonia	2077	ERF	OMIM:617180
HP:0001252	Hypotonia	5058	PAK1	OMIM:618158
HP:0001252	Hypotonia	22983	MAST1	OMIM:618273
HP:0001252	Hypotonia	2193	FARSA	OMIM:619013
HP:0001252	Hypotonia	89970	RSPRY1	ORPHA:457395
HP:0001252	Hypotonia	89970	RSPRY1	OMIM:616723
HP:0001252	Hypotonia	2733	GLE1	OMIM:611890
HP:0001252	Hypotonia	10020	GNE	ORPHA:3166
HP:0001252	Hypotonia	8139	GAN	ORPHA:643
HP:0001252	Hypotonia	11011	TLK2	OMIM:618050
HP:0001252	Hypotonia	2316	FLNA	ORPHA:555877
HP:0001252	Hypotonia	11342	RNF13	ORPHA:544503
HP:0001252	Hypotonia	871	SERPINH1	OMIM:613848
HP:0001252	Hypotonia	6095	RORA	OMIM:618060
HP:0001252	Hypotonia	324	APC	ORPHA:261584
HP:0001252	Hypotonia	10046	MAMLD1	ORPHA:456328
HP:0001252	Hypotonia	80308	FLAD1	OMIM:255100
HP:0001252	Hypotonia	1291	COL6A1	ORPHA:75840
HP:0001252	Hypotonia	1292	COL6A2	ORPHA:75840
HP:0001252	Hypotonia	1293	COL6A3	ORPHA:75840
HP:0001252	Hypotonia	2617	GARS1	OMIM:619042
HP:0001252	Hypotonia	51218	GLRX5	ORPHA:401866
HP:0001252	Hypotonia	1352	COX10	OMIM:619046
HP:0001252	Hypotonia	1763	DNA2	ORPHA:352470
HP:0001252	Hypotonia	1340	COX6B1	OMIM:619051
HP:0001252	Hypotonia	84665	MYPN	ORPHA:171881
HP:0001252	Hypotonia	84665	MYPN	ORPHA:171439
HP:0001252	Hypotonia	9739	SETD1A	OMIM:619056
HP:0001252	Hypotonia	80204	FBXO11	OMIM:618089
HP:0001252	Hypotonia	8792	TNFRSF11A	OMIM:612301
HP:0001252	Hypotonia	10716	TBR1	OMIM:606053
HP:0001252	Hypotonia	1339	COX6A2	OMIM:619062
HP:0001252	Hypotonia	1327	COX4I1	OMIM:619060
HP:0001252	Hypotonia	26053	AUTS2	ORPHA:352490
HP:0001252	Hypotonia	26053	AUTS2	OMIM:615834
HP:0001252	Hypotonia	1906	EDN1	ORPHA:137888
HP:0001252	Hypotonia	2773	GNAI3	ORPHA:137888
HP:0001252	Hypotonia	53834	FGFRL1	OMIM:194190
HP:0001252	Hypotonia	4953	ODC1	OMIM:619075
HP:0001252	Hypotonia	5582	PRKCG	ORPHA:98763
HP:0001252	Hypotonia	6558	SLC12A2	OMIM:619083
HP:0001252	Hypotonia	6558	SLC12A2	OMIM:619080
HP:0001252	Hypotonia	25814	ATXN10	ORPHA:98761
HP:0001252	Hypotonia	64419	MTMR14	OMIM:160150
HP:0001252	Hypotonia	64419	MTMR14	ORPHA:169189
HP:0001252	Hypotonia	5594	MAPK1	OMIM:619087
HP:0001252	Hypotonia	5340	PLG	OMIM:217090
HP:0001252	Hypotonia	25828	TXN2	OMIM:616811
HP:0001252	Hypotonia	4677	NARS1	OMIM:619091
HP:0001252	Hypotonia	4677	NARS1	OMIM:619092
HP:0001252	Hypotonia	9147	NEMF	OMIM:619099
HP:0001252	Hypotonia	644096	SDHAF1	ORPHA:3208
HP:0001252	Hypotonia	9928	KIF14	OMIM:617914
HP:0001252	Hypotonia	390594	KBTBD13	ORPHA:171439
HP:0001252	Hypotonia	147007	TMEM199	OMIM:616829
HP:0001252	Hypotonia	51322	WAC	OMIM:616708
HP:0001252	Hypotonia	84317	CCDC115	OMIM:616828
HP:0001252	Hypotonia	10075	HUWE1	OMIM:309590
HP:0001252	Hypotonia	274	BIN1	ORPHA:169186
HP:0001252	Hypotonia	274	BIN1	ORPHA:169189
HP:0001252	Hypotonia	9698	PUM1	OMIM:617931
HP:0001252	Hypotonia	53616	ADAM22	OMIM:617933
HP:0001252	Hypotonia	85358	SHANK3	OMIM:606232
HP:0001252	Hypotonia	26115	TANC2	OMIM:618906
HP:0001252	Hypotonia	4618	MYF6	ORPHA:169189
HP:0001252	Hypotonia	84162	BLTP1	OMIM:617822
HP:0001252	Hypotonia	23291	FBXW11	OMIM:618914
HP:0001252	Hypotonia	6606	SMN1	OMIM:253300
HP:0001252	Hypotonia	10943	MSL3	OMIM:301032
HP:0001252	Hypotonia	57511	COG6	OMIM:614576
HP:0001252	Hypotonia	128989	TANGO2	OMIM:616878
HP:0001252	Hypotonia	2464	FRA16E	OMIM:136570
HP:0001252	Hypotonia	1859	DYRK1A	OMIM:614104
HP:0001252	Hypotonia	23443	SLC35A3	OMIM:615553
HP:0001252	Hypotonia	29957	SLC25A24	OMIM:612289
HP:0001252	Hypotonia	64857	PLEKHG2	OMIM:616763
HP:0001252	Hypotonia	8936	WASF1	OMIM:618707
HP:0001252	Hypotonia	55617	TASP1	OMIM:618950
HP:0001252	Hypotonia	28957	MRPS28	OMIM:618958
HP:0001252	Hypotonia	54802	TRIT1	OMIM:617873
HP:0001252	Hypotonia	51780	KDM3B	OMIM:618846
HP:0001252	Hypotonia	51317	PHF21A	OMIM:618725
HP:0001252	Hypotonia	738	VPS51	OMIM:618606
HP:0001252	Hypotonia	84700	MYO18B	OMIM:616549
HP:0001252	Hypotonia	5430	POLR2A	OMIM:618603
HP:0001252	Hypotonia	1585	CYP11B2	ORPHA:556030
HP:0001252	Hypotonia	4848	CNOT2	OMIM:618608
HP:0001252	Hypotonia	1468	SLC25A10	OMIM:618972
HP:0001252	Hypotonia	5087	PBX1	OMIM:617641
HP:0001252	Hypotonia	115286	SLC25A26	OMIM:616794
HP:0001252	Hypotonia	92935	MARS2	OMIM:616430
HP:0001252	Hypotonia	4858	NOVA2	OMIM:618859
HP:0001252	Hypotonia	25871	NEPRO	OMIM:618853
HP:0001252	Hypotonia	1460	CSNK2B	OMIM:618732
HP:0001252	Hypotonia	4654	MYOD1	OMIM:618975
HP:0001252	Hypotonia	8449	DHX16	OMIM:618733
HP:0001252	Hypotonia	22868	FASTKD2	OMIM:618855
HP:0001252	Hypotonia	58499	ZNF462	OMIM:618619
HP:0001252	Hypotonia	25970	SH2B1	ORPHA:261222
HP:0001252	Hypotonia	3008	H1-4	OMIM:617537
HP:0001252	Hypotonia	3508	IGHMBP2	OMIM:604320
HP:0001252	Hypotonia	51021	MRPS16	OMIM:610498
HP:0001252	Hypotonia	2627	GATA6	ORPHA:2255
HP:0001252	Hypotonia	375748	ERCC6L2	OMIM:615715
HP:0001252	Hypotonia	285362	SUMF1	OMIM:272200
HP:0001252	Hypotonia	285362	SUMF1	ORPHA:585
HP:0001252	Hypotonia	11107	PRDM5	ORPHA:90354
HP:0001252	Hypotonia	84627	ZNF469	ORPHA:90354
HP:0001252	Hypotonia	55275	VPS53	OMIM:615851
HP:0001252	Hypotonia	54916	TMEM260	OMIM:617478
HP:0001252	Hypotonia	6314	ATXN7	ORPHA:94147
HP:0001252	Hypotonia	6927	HNF1A	ORPHA:324575
HP:0001252	Hypotonia	6878	TAF6	OMIM:617126
HP:0001252	Hypotonia	79912	PYROXD1	OMIM:617258
HP:0001252	Hypotonia	51807	TUBA8	ORPHA:250972
HP:0001252	Hypotonia	203547	VMA21	OMIM:310440
HP:0001252	Hypotonia	5575	PRKAR1B	OMIM:619680
HP:0001252	Hypotonia	7707	ZNF148	OMIM:617260
HP:0001252	Hypotonia	5934	RBL2	OMIM:619690
HP:0001252	Hypotonia	3172	HNF4A	ORPHA:263455
HP:0001252	Hypotonia	5144	PDE4D	ORPHA:439822
HP:0001252	Hypotonia	23040	MYT1L	OMIM:616521
HP:0001252	Hypotonia	8087	FXR1	OMIM:618822
HP:0001252	Hypotonia	8087	FXR1	OMIM:618823
HP:0001252	Hypotonia	5293	PIK3CD	ORPHA:221139
HP:0001252	Hypotonia	90417	KNSTRN	ORPHA:221139
HP:0001252	Hypotonia	8405	SPOP	OMIM:618829
HP:0001252	Hypotonia	10283	CWC27	ORPHA:166035
HP:0001252	Hypotonia	2893	GRIA4	OMIM:617864
HP:0001252	Hypotonia	7284	TUFM	OMIM:610678
HP:0001252	Hypotonia	5331	PLCB3	OMIM:618961
HP:0001252	Hypotonia	1315	COPB1	OMIM:619255
HP:0001252	Hypotonia	131118	DNAJC19	ORPHA:66634
HP:0001252	Hypotonia	2806	GOT2	OMIM:618721
HP:0001252	Hypotonia	7138	TNNT1	ORPHA:98902
HP:0001252	Hypotonia	29928	TIMM22	OMIM:618851
HP:0001252	Hypotonia	57728	WDR19	OMIM:614378
HP:0001252	Hypotonia	1103	CHAT	OMIM:254210
HP:0001252	Hypotonia	1145	CHRNE	OMIM:605809
HP:0001252	Hypotonia	4534	MTM1	ORPHA:596
HP:0001252	Hypotonia	4534	MTM1	OMIM:310400
HP:0001252	Hypotonia	199857	ALG14	OMIM:619036
HP:0001252	Hypotonia	56203	LMOD3	OMIM:616165
HP:0001252	Hypotonia	56203	LMOD3	ORPHA:171430
HP:0001252	Hypotonia	3704	ITPA	OMIM:616647
HP:0001252	Hypotonia	2643	GCH1	OMIM:233910
HP:0001252	Hypotonia	136647	MPLKIP	OMIM:234050
HP:0001252	Hypotonia	8818	DPM2	OMIM:615042
HP:0001252	Hypotonia	4703	NEB	ORPHA:171433
HP:0001252	Hypotonia	4703	NEB	ORPHA:171430
HP:0001252	Hypotonia	10324	KLHL41	ORPHA:171433
HP:0001252	Hypotonia	10324	KLHL41	ORPHA:171430
HP:0001252	Hypotonia	9326	ZNHIT3	OMIM:260565
HP:0001252	Hypotonia	9326	ZNHIT3	ORPHA:2836
HP:0001252	Hypotonia	131377	KLHL40	ORPHA:171430
HP:0001252	Hypotonia	51244	CCDC174	OMIM:616816
HP:0001252	Hypotonia	55005	RMND1	OMIM:614922
HP:0001252	Hypotonia	93627	TBCK	OMIM:616900
HP:0001252	Hypotonia	93627	TBCK	ORPHA:488632
HP:0001252	Hypotonia	51008	ASCC1	OMIM:616867
HP:0001252	Hypotonia	57731	SPTBN4	OMIM:617519
HP:0001252	Hypotonia	23299	BICD2	OMIM:618291
HP:0001252	Hypotonia	4524	MTHFR	ORPHA:395
HP:0001252	Hypotonia	9896	FIG4	ORPHA:3472
HP:0001252	Hypotonia	55697	VAC14	ORPHA:3472
HP:0001252	Hypotonia	1917	EEF1A2	OMIM:616393
HP:0001252	Hypotonia	5718	PSMD12	ORPHA:529962
HP:0001252	Hypotonia	2186	BPTF	ORPHA:529962
HP:0001252	Hypotonia	4576	MT-TT	ORPHA:254857
HP:0001252	Hypotonia	5192	PEX10	OMIM:614870
HP:0001252	Hypotonia	5190	PEX6	OMIM:614862
HP:0001252	Hypotonia	55670	PEX26	OMIM:614872
HP:0001252	Hypotonia	54332	GDAP1	ORPHA:99948
HP:0001252	Hypotonia	9409	PEX16	OMIM:614876
HP:0001252	Hypotonia	5193	PEX12	OMIM:614859
HP:0001252	Hypotonia	492	ATP2B3	ORPHA:314978
HP:0001252	Hypotonia	23345	SYNE1	ORPHA:319332
HP:0001252	Hypotonia	2137	EXTL3	ORPHA:508533
HP:0001252	Hypotonia	2137	EXTL3	OMIM:617425
HP:0001252	Hypotonia	5138	PDE2A	OMIM:619150
HP:0001252	Hypotonia	6535	SLC6A8	OMIM:300352
HP:0001252	Hypotonia	8367	H4C5	OMIM:619950
HP:0001252	Hypotonia	104	ADARB1	OMIM:618862
HP:0001252	Hypotonia	340533	NEXMIF	OMIM:300912
HP:0001252	Hypotonia	9853	RUSC2	OMIM:617773
HP:0001252	Hypotonia	5393	EXOSC9	OMIM:618065
HP:0001252	Hypotonia	55823	VPS11	OMIM:616683
HP:0001252	Hypotonia	6659	SOX4	OMIM:618506
HP:0001252	Hypotonia	10059	DNM1L	OMIM:614388
HP:0001252	Hypotonia	7355	SLC35A2	ORPHA:356961
HP:0001252	Hypotonia	775	CACNA1C	OMIM:620029
HP:0001252	Hypotonia	9254	CACNA2D2	OMIM:618501
HP:0001252	Hypotonia	7360	UGP2	OMIM:618744
HP:0001252	Hypotonia	347734	SLC35B2	OMIM:620269
HP:0001252	Hypotonia	781	CACNA2D1	OMIM:620149
HP:0001252	Hypotonia	84942	WDR73	OMIM:251300
HP:0001252	Hypotonia	51343	FZR1	OMIM:620145
HP:0001252	Hypotonia	80222	TARS2	OMIM:615918
HP:0001252	Hypotonia	1161	ERCC8	ORPHA:90322
HP:0001252	Hypotonia	2067	ERCC1	ORPHA:90322
HP:0001252	Hypotonia	2074	ERCC6	ORPHA:90322
HP:0001252	Hypotonia	2074	ERCC6	OMIM:214150
HP:0001252	Hypotonia	57165	GJC2	OMIM:608804
HP:0001252	Hypotonia	6531	SLC6A3	ORPHA:238455
HP:0001252	Hypotonia	6531	SLC6A3	OMIM:613135
HP:0001252	Hypotonia	51112	TRAPPC12	ORPHA:500144
HP:0001252	Hypotonia	51112	TRAPPC12	OMIM:617669
HP:0001252	Hypotonia	6341	SCO1	OMIM:619048
HP:0001252	Hypotonia	6536	SLC6A9	OMIM:617301
HP:0001252	Hypotonia	89910	UBE3B	OMIM:244450
HP:0001252	Hypotonia	51741	WWOX	OMIM:616211
HP:0001252	Hypotonia	51506	UFC1	OMIM:618076
HP:0001252	Hypotonia	387787	LIPT2	OMIM:617668
HP:0001252	Hypotonia	4010	LMX1B	ORPHA:495818
HP:0001252	Hypotonia	6812	STXBP1	ORPHA:495818
HP:0001252	Hypotonia	166378	AFG2A	OMIM:616577
HP:0001252	Hypotonia	79947	DHDDS	OMIM:613861
HP:0001252	Hypotonia	375387	NRROS	OMIM:618875
HP:0001252	Hypotonia	10565	ARFGEF1	OMIM:619964
HP:0001252	Hypotonia	80055	PGAP1	OMIM:615802
HP:0001252	Hypotonia	16	AARS1	OMIM:616339
HP:0001252	Hypotonia	55163	PNPO	ORPHA:79096
HP:0001252	Hypotonia	55163	PNPO	OMIM:610090
HP:0001252	Hypotonia	10381	TUBB3	OMIM:614039
HP:0001252	Hypotonia	2911	GRM1	OMIM:614831
HP:0001252	Hypotonia	10978	CLP1	OMIM:615803
HP:0001252	Hypotonia	79158	GNPTAB	OMIM:252500
HP:0001252	Hypotonia	79158	GNPTAB	ORPHA:576
HP:0001252	Hypotonia	63908	NAPB	OMIM:620033
HP:0001252	Hypotonia	87178	PNPT1	ORPHA:319514
HP:0001252	Hypotonia	87178	PNPT1	OMIM:614932
HP:0001252	Hypotonia	1185	CLCN6	OMIM:619173
HP:0001252	Hypotonia	7054	TH	OMIM:605407
HP:0001252	Hypotonia	25839	COG4	ORPHA:263501
HP:0001252	Hypotonia	25839	COG4	OMIM:613489
HP:0001252	Hypotonia	4718	NDUFC2	OMIM:619170
HP:0001252	Hypotonia	4001	LMNB1	OMIM:619179
HP:0001252	Hypotonia	55870	ASH1L	OMIM:617796
HP:0001252	Hypotonia	8913	CACNA1G	OMIM:618087
HP:0001252	Hypotonia	6844	VAMP2	OMIM:618760
HP:0001252	Hypotonia	5119	CHMP1A	OMIM:614961
HP:0001252	Hypotonia	816	CAMK2B	OMIM:617799
HP:0001252	Hypotonia	3064	HTT	OMIM:617435
HP:0001252	Hypotonia	5631	PRPS1	ORPHA:1187
HP:0001252	Hypotonia	5631	PRPS1	ORPHA:423479
HP:0001252	Hypotonia	8398	PLA2G6	ORPHA:35069
HP:0001252	Hypotonia	9570	GOSR2	OMIM:620166
HP:0001252	Hypotonia	5095	PCCA	OMIM:606054
HP:0001252	Hypotonia	5096	PCCB	OMIM:606054
HP:0001252	Hypotonia	8802	SUCLG1	OMIM:245400
HP:0001252	Hypotonia	57531	HACE1	ORPHA:464282
HP:0001252	Hypotonia	10087	CERT1	OMIM:616351
HP:0001252	Hypotonia	1656	DDX6	OMIM:618653
HP:0001252	Hypotonia	25930	PTPN23	OMIM:618890
HP:0001252	Hypotonia	23327	NEDD4L	OMIM:617201
HP:0001252	Hypotonia	132158	GLYCTK	OMIM:220120
HP:0001252	Hypotonia	6663	SOX10	OMIM:611584
HP:0001252	Hypotonia	10382	TUBB4A	OMIM:612438
HP:0001252	Hypotonia	1499	CTNNB1	ORPHA:404473
HP:0001252	Hypotonia	2615	LRRC32	OMIM:619074
HP:0001252	Hypotonia	253738	EBF3	OMIM:617330
HP:0001252	Hypotonia	6905	TBCE	OMIM:241410
HP:0001252	Hypotonia	27089	UQCRQ	OMIM:615159
HP:0001252	Hypotonia	56006	SMG9	OMIM:616920
HP:0001252	Hypotonia	9255	AIMP1	OMIM:260600
HP:0001252	Hypotonia	116115	ZNF526	OMIM:619877
HP:0001252	Hypotonia	7701	ZNF142	OMIM:618425
HP:0001252	Hypotonia	3098	HK1	OMIM:618547
HP:0001252	Hypotonia	10846	PDE10A	OMIM:616921
HP:0001252	Hypotonia	10846	PDE10A	ORPHA:494526
HP:0001252	Hypotonia	25977	NECAP1	OMIM:615833
HP:0001252	Hypotonia	10290	SPEG	OMIM:615959
HP:0001252	Hypotonia	90624	LYRM7	OMIM:615838
HP:0001252	Hypotonia	10056	FARSB	OMIM:613658
HP:0001252	Hypotonia	5354	PLP1	ORPHA:280219
HP:0001252	Hypotonia	80704	SLC19A3	OMIM:607483
HP:0001252	Hypotonia	84992	PIGY	OMIM:616809
HP:0001252	Hypotonia	111	ADCY5	OMIM:606703
HP:0001252	Hypotonia	111	ADCY5	OMIM:619647
HP:0001252	Hypotonia	111	ADCY5	ORPHA:324588
HP:0001252	Hypotonia	111	ADCY5	OMIM:619651
HP:0001252	Hypotonia	5700	PSMC1	OMIM:620071
HP:0001252	Hypotonia	55210	ATAD3A	ORPHA:496790
HP:0001252	Hypotonia	55210	ATAD3A	OMIM:617183
HP:0001252	Hypotonia	3785	KCNQ2	ORPHA:1949
HP:0001252	Hypotonia	3786	KCNQ3	ORPHA:1949
HP:0001252	Hypotonia	1615	DARS1	OMIM:615281
HP:0001252	Hypotonia	2232	FDXR	ORPHA:543470
HP:0001252	Hypotonia	7358	UGDH	OMIM:618792
HP:0001252	Hypotonia	10991	SLC38A3	OMIM:619881
HP:0001252	Hypotonia	2904	GRIN2B	OMIM:616139
HP:0001252	Hypotonia	6506	SLC1A2	OMIM:617105
HP:0001252	Hypotonia	23261	CAMTA1	OMIM:614756
HP:0001252	Hypotonia	64135	IFIH1	OMIM:615846
HP:0001252	Hypotonia	64135	IFIH1	ORPHA:51
HP:0001252	Hypotonia	25973	PARS2	OMIM:618437
HP:0001252	Hypotonia	9562	MINPP1	OMIM:619527
HP:0001252	Hypotonia	11261	CHP1	OMIM:618438
HP:0001252	Hypotonia	10667	FARS2	ORPHA:466722
HP:0001252	Hypotonia	5373	PMM2	ORPHA:79318
HP:0001252	Hypotonia	55739	NAXD	OMIM:618321
HP:0001252	Hypotonia	7143	TNR	OMIM:619653
HP:0001252	Hypotonia	5917	RARS1	OMIM:616140
HP:0001252	Hypotonia	125988	MICOS13	OMIM:618329
HP:0001252	Hypotonia	57479	PRR12	OMIM:619539
HP:0001252	Hypotonia	7994	KAT6A	OMIM:616268
HP:0001252	Hypotonia	51227	PIGP	OMIM:617599
HP:0001252	Hypotonia	23219	FBXO28	OMIM:619777
HP:0001252	Hypotonia	5195	PEX14	OMIM:614887
HP:0001252	Hypotonia	85021	REPS1	OMIM:617916
HP:0001252	Hypotonia	5048	PAFAH1B1	ORPHA:95232
HP:0001252	Hypotonia	5048	PAFAH1B1	OMIM:607432
HP:0001252	Hypotonia	28962	OSTM1	OMIM:259720
HP:0001252	Hypotonia	10195	ALG3	OMIM:601110
HP:0001252	Hypotonia	6567	SLC16A2	ORPHA:59
HP:0001252	Hypotonia	197322	ACSF3	ORPHA:289504
HP:0001252	Hypotonia	27247	NFU1	OMIM:605711
HP:0001252	Hypotonia	10533	ATG7	OMIM:619422
HP:0001252	Hypotonia	56160	NSMCE3	OMIM:617241
HP:0001252	Hypotonia	27077	B9D1	OMIM:617120
HP:0001252	Hypotonia	54903	MKS1	OMIM:249000
HP:0001252	Hypotonia	3658	IREB2	OMIM:618451
HP:0001252	Hypotonia	2581	GALC	OMIM:245200
HP:0001252	Hypotonia	2581	GALC	ORPHA:206443
HP:0001252	Hypotonia	2702	GJA5	OMIM:612474
HP:0001252	Hypotonia	2703	GJA8	OMIM:612474
HP:0001252	Hypotonia	10243	GPHN	OMIM:615501
HP:0001252	Hypotonia	51025	PAM16	OMIM:613320
HP:0001252	Hypotonia	2744	GLS	OMIM:618339
HP:0001252	Hypotonia	5277	PIGA	OMIM:301072
HP:0001252	Hypotonia	5277	PIGA	OMIM:300868
HP:0001252	Hypotonia	10535	RNASEH2A	ORPHA:51
HP:0001252	Hypotonia	84153	RNASEH2C	ORPHA:51
HP:0001252	Hypotonia	25939	SAMHD1	ORPHA:51
HP:0001252	Hypotonia	25939	SAMHD1	OMIM:612952
HP:0001252	Hypotonia	79621	RNASEH2B	ORPHA:51
HP:0001252	Hypotonia	103	ADAR	ORPHA:51
HP:0001252	Hypotonia	11277	TREX1	ORPHA:51
HP:0001252	Hypotonia	11277	TREX1	OMIM:225750
HP:0001252	Hypotonia	100147744	RNU7-1	ORPHA:51
HP:0001252	Hypotonia	100147744	RNU7-1	OMIM:619487
HP:0001252	Hypotonia	134353	LSM11	ORPHA:51
HP:0001252	Hypotonia	2902	GRIN1	ORPHA:208447
HP:0001252	Hypotonia	2902	GRIN1	OMIM:619814
HP:0001252	Hypotonia	8504	PEX3	OMIM:617370
HP:0001252	Hypotonia	8243	SMC1A	OMIM:301044
HP:0001252	Hypotonia	79876	UBA5	OMIM:617132
HP:0001252	Hypotonia	23516	SLC39A14	OMIM:617013
HP:0001252	Hypotonia	160418	TMTC3	OMIM:617255
HP:0001252	Hypotonia	8573	CASK	OMIM:300749
HP:0001252	Hypotonia	85476	GFM1	OMIM:609060
HP:0001252	Hypotonia	4719	NDUFS1	OMIM:618226
HP:0001252	Hypotonia	51412	ACTL6B	OMIM:618468
HP:0001252	Hypotonia	4720	NDUFS2	OMIM:618228
HP:0001252	Hypotonia	6323	SCN1A	OMIM:619317
HP:0001252	Hypotonia	4729	NDUFV2	OMIM:618229
HP:0001252	Hypotonia	6571	SLC18A2	ORPHA:352649
HP:0001252	Hypotonia	6571	SLC18A2	OMIM:618049
HP:0001252	Hypotonia	170302	ARX	OMIM:308350
HP:0001252	Hypotonia	8050	PDHX	ORPHA:255182
HP:0001252	Hypotonia	56945	MRPS22	OMIM:611719
HP:0001252	Hypotonia	55187	VPS13D	OMIM:607317
HP:0001252	Hypotonia	23102	TBC1D2B	OMIM:619323
HP:0001252	Hypotonia	56521	DNAJC12	OMIM:617384
HP:0001252	Hypotonia	5610	EIF2AK2	OMIM:619687
HP:0001252	Hypotonia	64801	ARV1	OMIM:617020
HP:0001252	Hypotonia	6647	SOD1	OMIM:618598
HP:0001252	Hypotonia	51601	LIPT1	OMIM:616299
HP:0001252	Hypotonia	56997	COQ8A	OMIM:612016
HP:0001252	Hypotonia	5010	CLDN11	OMIM:619328
HP:0001252	Hypotonia	51010	EXOSC3	OMIM:614678
HP:0001252	Hypotonia	1644	DDC	OMIM:608643
HP:0001252	Hypotonia	64221	ROBO3	OMIM:607313
HP:0001252	Hypotonia	3767	KCNJ11	ORPHA:79134
HP:0001252	Hypotonia	79731	NARS2	ORPHA:79134
HP:0001252	Hypotonia	6833	ABCC8	ORPHA:79134
HP:0001252	Hypotonia	23499	MACF1	ORPHA:572013
HP:0001252	Hypotonia	387119	CEP85L	ORPHA:572013
HP:0001252	Hypotonia	1725	DHPS	OMIM:618480
HP:0001252	Hypotonia	4694	NDUFA1	OMIM:301020
HP:0001252	Hypotonia	4784	NFIX	OMIM:602535
HP:0001252	Hypotonia	55250	ELP2	OMIM:617270
HP:0001252	Hypotonia	8120	AP3B2	OMIM:617276
HP:0001252	Hypotonia	10352	WARS2	OMIM:617710
HP:0001252	Hypotonia	2664	GDI1	OMIM:300849
HP:0001252	Hypotonia	80746	TSEN2	OMIM:612389
HP:0001252	Hypotonia	51079	NDUFA13	OMIM:618249
HP:0001252	Hypotonia	84188	FAR1	OMIM:619338
HP:0001252	Hypotonia	2917	GRM7	OMIM:618922
HP:0001252	Hypotonia	819	CAMLG	OMIM:620201
HP:0001252	Hypotonia	259232	NALCN	OMIM:615419
HP:0001252	Hypotonia	259232	NALCN	ORPHA:371364
HP:0001252	Hypotonia	54704	PDP1	ORPHA:79246
HP:0001252	Hypotonia	1000	CDH2	OMIM:618929
HP:0001252	Hypotonia	8604	SLC25A12	OMIM:612949
HP:0001252	Hypotonia	6821	SUOX	OMIM:272300
HP:0001252	Hypotonia	2898	GRIK2	OMIM:619580
HP:0001252	Hypotonia	23258	DENND5A	OMIM:617281
HP:0001252	Hypotonia	1641	DCX	OMIM:300067
HP:0001252	Hypotonia	6390	SDHB	OMIM:619224
HP:0001252	Hypotonia	2906	GRIN2D	OMIM:617162
HP:0001252	Hypotonia	4761	NEUROD2	OMIM:618374
HP:0001252	Hypotonia	4700	NDUFA6	OMIM:618253
HP:0001252	Hypotonia	2257	FGF12	OMIM:617166
HP:0001252	Hypotonia	23065	EMC1	OMIM:616875
HP:0001252	Hypotonia	6304	SATB1	OMIM:619229
HP:0001252	Hypotonia	84668	HYCC1	OMIM:610532
HP:0001252	Hypotonia	57572	DOCK6	OMIM:614219
HP:0001252	Hypotonia	6697	SPR	OMIM:612716
HP:0001252	Hypotonia	6697	SPR	ORPHA:70594
HP:0001252	Hypotonia	7074	TIAM1	OMIM:619908
HP:0001252	Hypotonia	5092	PCBD1	ORPHA:1578
HP:0001252	Hypotonia	59336	PRDM13	OMIM:619909
HP:0001252	Hypotonia	8943	AP3D1	OMIM:617050
HP:0001252	Hypotonia	57498	KIDINS220	OMIM:617296
HP:0001252	Hypotonia	51095	TRNT1	OMIM:616084
HP:0001252	Hypotonia	51501	HIKESHI	OMIM:616881
HP:0001252	Hypotonia	54539	NDUFB11	OMIM:300952
HP:0001252	Hypotonia	25782	RAB3GAP2	OMIM:614225
HP:0001252	Hypotonia	22931	RAB18	OMIM:614222
HP:0001252	Hypotonia	3643	INSR	ORPHA:508
HP:0001252	Hypotonia	56270	WDR45B	OMIM:617977
HP:0001252	Hypotonia	10682	EBP	OMIM:300960
HP:0001252	Hypotonia	2571	GAD1	OMIM:619124
HP:0001252	Hypotonia	90522	YIF1B	OMIM:619125
HP:0001252	Hypotonia	60558	GUF1	OMIM:617065
HP:0001252	Hypotonia	374354	NHLRC2	OMIM:618278
HP:0001252	Hypotonia	4841	NONO	OMIM:300967
HP:0001252	Hypotonia	440138	ALG11	ORPHA:280071
HP:0001252	Hypotonia	6182	MRPL12	OMIM:618951
HP:0001252	Hypotonia	51124	IER3IP1	OMIM:614231
HP:0001252	Hypotonia	79143	MBOAT7	OMIM:617188
HP:0001252	Hypotonia	57688	ZSWIM6	OMIM:617865
HP:0001252	Hypotonia	4976	OPA1	OMIM:616896
HP:0001252	Hypotonia	4190	MDH1	OMIM:618959
HP:0001252	Hypotonia	57038	RARS2	OMIM:611523
HP:0001252	Hypotonia	100506658	OCLN	OMIM:251290
HP:0001252	Hypotonia	93587	TRMT10A	ORPHA:391408
HP:0001252	Hypotonia	84919	PPP1R15B	ORPHA:391408
HP:0001252	Hypotonia	617	BCS1L	OMIM:124000
HP:0001252	Hypotonia	60386	SLC25A19	OMIM:607196
HP:0001252	Hypotonia	29929	ALG6	OMIM:603147
HP:0001252	Hypotonia	5296	PIK3R2	OMIM:603387
HP:0001252	Hypotonia	5805	PTS	OMIM:261640
HP:0001252	Hypotonia	54888	NSUN2	OMIM:611091
HP:0001252	Hypotonia	29920	PYCR2	OMIM:616420
HP:0001252	Hypotonia	440	ASNS	OMIM:615574
HP:0001252	Hypotonia	777	CACNA1E	OMIM:618285
HP:0001252	Hypotonia	203190	LGI3	OMIM:620007
HP:0001252	Hypotonia	51294	PCDH12	OMIM:251280
HP:0001252	Hypotonia	9439	MED23	OMIM:614249
HP:0001252	Hypotonia	84081	NSRP1	OMIM:620001
HP:0001252	Hypotonia	124454	EARS2	OMIM:614924
HP:0001252	Hypotonia	3778	KCNMA1	OMIM:618729
HP:0001252	Hypotonia	64802	NMNAT1	OMIM:619260
HP:0001252	Hypotonia	116150	NUS1	OMIM:617082
HP:0001252	Hypotonia	27072	VPS41	OMIM:619389
HP:0001252	Hypotonia	1968	EIF2S3	OMIM:300148
HP:0001252	Hypotonia	55331	ACER3	OMIM:617762
HP:0001252	Hypotonia	50484	RRM2B	OMIM:612075
HP:0001252	Hypotonia	221927	BRAT1	OMIM:618056
HP:0001252	Hypotonia	221927	BRAT1	OMIM:614498
HP:0001252	Hypotonia	10844	TUBGCP2	OMIM:618737
HP:0001252	Hypotonia	547	KIF1A	OMIM:614255
HP:0001252	Hypotonia	23236	PLCB1	OMIM:613722
HP:0001252	Hypotonia	27445	PCLO	OMIM:608027
HP:0001252	Hypotonia	284111	SLC13A5	OMIM:615905
HP:0001252	Hypotonia	2760	GM2A	OMIM:272750
HP:0001252	Hypotonia	388015	RTL1	ORPHA:254531
HP:0001252	Hypotonia	8788	DLK1	ORPHA:254531
HP:0001252	Hypotonia	55384	MEG3	ORPHA:254531
HP:0001252	Hypotonia	11253	MAN1B1	ORPHA:397941
HP:0001252	Hypotonia	23394	ADNP	ORPHA:404448
HP:0001252	Hypotonia	91574	MTRFR	ORPHA:254930
HP:0001252	Hypotonia	10466	COG5	ORPHA:263487
HP:0001252	Hypotonia	6477	SIAH1	OMIM:619314
HP:0001252	Hypotonia	1788	DNMT3A	ORPHA:404443
HP:0001252	Hypotonia	22845	DOLK	ORPHA:91131
HP:0001252	Hypotonia	546	ATRX	OMIM:301040
HP:0001252	Hypotonia	546	ATRX	OMIM:309580
HP:0001252	Hypotonia	4758	NEU1	ORPHA:93399
HP:0001252	Hypotonia	1605	DAG1	ORPHA:370997
HP:0001252	Hypotonia	4535	MT-ND1	ORPHA:255210
HP:0001252	Hypotonia	4536	MT-ND2	ORPHA:255210
HP:0001252	Hypotonia	4537	MT-ND3	ORPHA:255210
HP:0001252	Hypotonia	4538	MT-ND4	ORPHA:255210
HP:0001252	Hypotonia	4567	MT-TL1	ORPHA:255210
HP:0001252	Hypotonia	4578	MT-TW	ORPHA:255210
HP:0001252	Hypotonia	4577	MT-TV	ORPHA:255210
HP:0001252	Hypotonia	4508	MT-ATP6	ORPHA:255210
HP:0001252	Hypotonia	4508	MT-ATP6	ORPHA:225154
HP:0001252	Hypotonia	4540	MT-ND5	ORPHA:255210
HP:0001252	Hypotonia	4541	MT-ND6	ORPHA:255210
HP:0001252	Hypotonia	4566	MT-TK	ORPHA:255210
HP:0001252	Hypotonia	10743	RAI1	ORPHA:477817
HP:0001252	Hypotonia	3481	IGF2	ORPHA:231144
HP:0001252	Hypotonia	283120	H19	ORPHA:231144
HP:0001252	Hypotonia	113179	ADAT3	ORPHA:363528
HP:0001252	Hypotonia	2782	GNB1	ORPHA:488613
HP:0001252	Hypotonia	10157	AASS	ORPHA:2203
HP:0001252	Hypotonia	6492	SIM1	ORPHA:398079
HP:0001252	Hypotonia	112939	NACC1	ORPHA:500545
HP:0001252	Hypotonia	1363	CPE	OMIM:619326
HP:0001252	Hypotonia	55780	ERMARD	ORPHA:75857
HP:0001252	Hypotonia	2720	GLB1	ORPHA:79255
HP:0001252	Hypotonia	6904	TBCD	ORPHA:496641
HP:0001252	Hypotonia	29925	GMPPB	ORPHA:370968
HP:0001252	Hypotonia	79147	FKRP	ORPHA:370968
HP:0001252	Hypotonia	29954	POMT2	ORPHA:370968
HP:0001252	Hypotonia	9215	LARGE1	ORPHA:370968
HP:0001252	Hypotonia	10585	POMT1	ORPHA:370968
HP:0001252	Hypotonia	7337	UBE3A	ORPHA:98794
HP:0001252	Hypotonia	7337	UBE3A	ORPHA:98795
HP:0001252	Hypotonia	7337	UBE3A	ORPHA:411511
HP:0001252	Hypotonia	7337	UBE3A	ORPHA:411515
HP:0001252	Hypotonia	4948	OCA2	ORPHA:98794
HP:0001252	Hypotonia	427	ASAH1	ORPHA:333
HP:0001252	Hypotonia	56992	KIF15	ORPHA:261323
HP:0001252	Hypotonia	84720	PIGO	ORPHA:247262
HP:0001252	Hypotonia	93210	PGAP3	ORPHA:247262
HP:0001252	Hypotonia	284098	PIGW	ORPHA:247262
HP:0001252	Hypotonia	27315	PGAP2	ORPHA:247262
HP:0001252	Hypotonia	55650	PIGV	ORPHA:247262
HP:0001252	Hypotonia	9487	PIGL	ORPHA:247262
HP:0001252	Hypotonia	347733	TUBB2B	ORPHA:300573
HP:0001252	Hypotonia	1757	SARDH	ORPHA:3129
HP:0001252	Hypotonia	6597	SMARCA4	ORPHA:1465
HP:0001252	Hypotonia	6598	SMARCB1	ORPHA:1465
HP:0001252	Hypotonia	8289	ARID1A	ORPHA:1465
HP:0001252	Hypotonia	5977	DPF2	ORPHA:1465
HP:0001252	Hypotonia	6601	SMARCC2	ORPHA:1465
HP:0001252	Hypotonia	6602	SMARCD1	ORPHA:1465
HP:0001252	Hypotonia	57492	ARID1B	ORPHA:1465
HP:0001252	Hypotonia	196528	ARID2	ORPHA:1465
HP:0001252	Hypotonia	6605	SMARCE1	ORPHA:1465
HP:0001252	Hypotonia	6664	SOX11	ORPHA:1465
HP:0001252	Hypotonia	23545	ATP6V0A2	ORPHA:2834
HP:0001252	Hypotonia	23545	ATP6V0A2	ORPHA:357074
HP:0001252	Hypotonia	54551	MAGEL2	ORPHA:398069
HP:0001252	Hypotonia	1183	CLCN4	ORPHA:485350
HP:0001252	Hypotonia	7080	NKX2-1	ORPHA:209905
HP:0001252	Hypotonia	2261	FGFR3	ORPHA:15
HP:0001252	Hypotonia	2261	FGFR3	OMIM:100800
HP:0001252	Hypotonia	191	AHCY	ORPHA:88618
HP:0001252	Hypotonia	9839	ZEB2	ORPHA:261552
HP:0001252	Hypotonia	9839	ZEB2	ORPHA:261537
HP:0001252	Hypotonia	84342	COG8	OMIM:611182
HP:0001252	Hypotonia	84342	COG8	ORPHA:95428
HP:0001252	Hypotonia	2903	GRIN2A	ORPHA:289266
HP:0001252	Hypotonia	4041	LRP5	ORPHA:2788
HP:0001252	Hypotonia	28514	DLL1	ORPHA:93926
HP:0001252	Hypotonia	28514	DLL1	ORPHA:93924
HP:0001252	Hypotonia	28514	DLL1	ORPHA:93925
HP:0001252	Hypotonia	28514	DLL1	ORPHA:220386
HP:0001252	Hypotonia	2253	FGF8	ORPHA:93926
HP:0001252	Hypotonia	2253	FGF8	ORPHA:93924
HP:0001252	Hypotonia	2253	FGF8	ORPHA:93925
HP:0001252	Hypotonia	2253	FGF8	ORPHA:220386
HP:0001252	Hypotonia	6496	SIX3	ORPHA:93926
HP:0001252	Hypotonia	6496	SIX3	ORPHA:93924
HP:0001252	Hypotonia	6496	SIX3	ORPHA:93925
HP:0001252	Hypotonia	6496	SIX3	ORPHA:220386
HP:0001252	Hypotonia	7050	TGIF1	ORPHA:93926
HP:0001252	Hypotonia	7050	TGIF1	ORPHA:93924
HP:0001252	Hypotonia	7050	TGIF1	ORPHA:93925
HP:0001252	Hypotonia	7050	TGIF1	ORPHA:220386
HP:0001252	Hypotonia	4838	NODAL	ORPHA:93926
HP:0001252	Hypotonia	4838	NODAL	ORPHA:93924
HP:0001252	Hypotonia	4838	NODAL	ORPHA:93925
HP:0001252	Hypotonia	4838	NODAL	ORPHA:220386
HP:0001252	Hypotonia	6469	SHH	ORPHA:93926
HP:0001252	Hypotonia	6469	SHH	ORPHA:93924
HP:0001252	Hypotonia	6469	SHH	ORPHA:93925
HP:0001252	Hypotonia	6469	SHH	ORPHA:220386
HP:0001252	Hypotonia	7546	ZIC2	ORPHA:93926
HP:0001252	Hypotonia	7546	ZIC2	ORPHA:93924
HP:0001252	Hypotonia	7546	ZIC2	ORPHA:93925
HP:0001252	Hypotonia	7546	ZIC2	ORPHA:220386
HP:0001252	Hypotonia	6491	STIL	ORPHA:93926
HP:0001252	Hypotonia	6491	STIL	ORPHA:93924
HP:0001252	Hypotonia	6491	STIL	ORPHA:93925
HP:0001252	Hypotonia	6491	STIL	ORPHA:220386
HP:0001252	Hypotonia	2619	GAS1	ORPHA:93926
HP:0001252	Hypotonia	2619	GAS1	ORPHA:93924
HP:0001252	Hypotonia	2619	GAS1	ORPHA:93925
HP:0001252	Hypotonia	2619	GAS1	ORPHA:220386
HP:0001252	Hypotonia	84976	DISP1	ORPHA:93926
HP:0001252	Hypotonia	84976	DISP1	ORPHA:93924
HP:0001252	Hypotonia	84976	DISP1	ORPHA:93925
HP:0001252	Hypotonia	84976	DISP1	ORPHA:220386
HP:0001252	Hypotonia	2736	GLI2	ORPHA:93926
HP:0001252	Hypotonia	2736	GLI2	ORPHA:93924
HP:0001252	Hypotonia	2736	GLI2	ORPHA:93925
HP:0001252	Hypotonia	2736	GLI2	ORPHA:220386
HP:0001252	Hypotonia	8928	FOXH1	ORPHA:93926
HP:0001252	Hypotonia	8928	FOXH1	ORPHA:93924
HP:0001252	Hypotonia	8928	FOXH1	ORPHA:93925
HP:0001252	Hypotonia	8928	FOXH1	ORPHA:220386
HP:0001252	Hypotonia	5727	PTCH1	ORPHA:93926
HP:0001252	Hypotonia	5727	PTCH1	ORPHA:93924
HP:0001252	Hypotonia	5727	PTCH1	ORPHA:93925
HP:0001252	Hypotonia	5727	PTCH1	ORPHA:220386
HP:0001252	Hypotonia	50937	CDON	ORPHA:93926
HP:0001252	Hypotonia	50937	CDON	ORPHA:93924
HP:0001252	Hypotonia	50937	CDON	ORPHA:93925
HP:0001252	Hypotonia	50937	CDON	ORPHA:220386
HP:0001252	Hypotonia	2260	FGFR1	ORPHA:93924
HP:0001252	Hypotonia	2260	FGFR1	ORPHA:220386
HP:0001252	Hypotonia	23007	PLCH1	ORPHA:93925
HP:0001252	Hypotonia	526	ATP6V1B2	ORPHA:3473
HP:0001252	Hypotonia	526	ATP6V1B2	ORPHA:79500
HP:0001252	Hypotonia	3756	KCNH1	ORPHA:3473
HP:0001252	Hypotonia	3782	KCNN3	ORPHA:3473
HP:0001252	Hypotonia	54496	PRMT7	ORPHA:464288
HP:0001252	Hypotonia	54658	UGT1A1	ORPHA:79234
HP:0001252	Hypotonia	1798	DPAGT1	ORPHA:86309
HP:0001252	Hypotonia	9056	SLC7A7	ORPHA:470
HP:0001252	Hypotonia	6611	SMS	ORPHA:3063
HP:0001252	Hypotonia	998	CDC42	ORPHA:487796
HP:0001252	Hypotonia	8239	USP9X	ORPHA:480880
HP:0001252	Hypotonia	9894	TELO2	ORPHA:488642
HP:0001252	Hypotonia	9091	PIGQ	OMIM:618548
HP:0001252	Hypotonia	9091	PIGQ	ORPHA:1934
HP:0001252	Hypotonia	9289	ADGRG1	ORPHA:98889
HP:0001252	Hypotonia	5297	PI4KA	ORPHA:98889
HP:0001252	Hypotonia	27286	SRPX2	ORPHA:98889
HP:0001252	Hypotonia	6134	RPL10	ORPHA:459070
HP:0001252	Hypotonia	6335	SCN9A	ORPHA:33069
HP:0001252	Hypotonia	6326	SCN2A	ORPHA:33069
HP:0001252	Hypotonia	6326	SCN2A	ORPHA:1934
HP:0001252	Hypotonia	2554	GABRA1	ORPHA:33069
HP:0001252	Hypotonia	6324	SCN1B	ORPHA:33069
HP:0001252	Hypotonia	6324	SCN1B	ORPHA:1934
HP:0001252	Hypotonia	57526	PCDH19	ORPHA:33069
HP:0001252	Hypotonia	2566	GABRG2	ORPHA:33069
HP:0001252	Hypotonia	57465	TBC1D24	ORPHA:79500
HP:0001252	Hypotonia	25915	NDUFAF3	ORPHA:70474
HP:0001252	Hypotonia	4714	NDUFB8	ORPHA:70474
HP:0001252	Hypotonia	9997	SCO2	ORPHA:70474
HP:0001252	Hypotonia	6834	SURF1	ORPHA:70474
HP:0001252	Hypotonia	7343	UBTF	ORPHA:500180
HP:0001252	Hypotonia	57459	GATAD2B	ORPHA:363686
HP:0001252	Hypotonia	4094	MAF	ORPHA:1272
HP:0001252	Hypotonia	6857	SYT1	ORPHA:522077
HP:0001252	Hypotonia	1289	COL5A1	OMIM:130000
HP:0001252	Hypotonia	1806	DPYD	ORPHA:1675
HP:0001252	Hypotonia	79633	FAT4	ORPHA:314679
HP:0001252	Hypotonia	8642	DCHS1	ORPHA:314679
HP:0001252	Hypotonia	7841	MOGS	ORPHA:79330
HP:0001252	Hypotonia	2683	B4GALT1	ORPHA:79332
HP:0001252	Hypotonia	10522	DEAF1	ORPHA:468620
HP:0001252	Hypotonia	2593	GAMT	OMIM:612736
HP:0001252	Hypotonia	84628	NTNG2	OMIM:618718
HP:0001252	Hypotonia	23636	NUP62	ORPHA:225154
HP:0001252	Hypotonia	57107	PDSS2	ORPHA:255249
HP:0001252	Hypotonia	27235	COQ2	ORPHA:255249
HP:0001252	Hypotonia	523	ATP6V1A	ORPHA:357074
HP:0001252	Hypotonia	529	ATP6V1E1	ORPHA:357074
HP:0001252	Hypotonia	6651	SON	ORPHA:500150
HP:0001252	Hypotonia	8218	CLTCL1	ORPHA:453510
HP:0001252	Hypotonia	650	BMP2	OMIM:617877
HP:0001252	Hypotonia	5194	PEX13	OMIM:614883
HP:0001252	Hypotonia	7317	UBA1	ORPHA:1145
HP:0001252	Hypotonia	5879	RAC1	ORPHA:500159
HP:0001252	Hypotonia	162417	NAGS	ORPHA:927
HP:0001252	Hypotonia	83737	ITCH	ORPHA:228426
HP:0001252	Hypotonia	8813	DPM1	ORPHA:79322
HP:0001252	Hypotonia	4750	NEK1	ORPHA:2751
HP:0001252	Hypotonia	9526	MPDU1	ORPHA:79323
HP:0001252	Hypotonia	37	ACADVL	ORPHA:26793
HP:0001252	Hypotonia	79644	SRD5A3	ORPHA:324737
HP:0001252	Hypotonia	60684	TRAPPC11	ORPHA:369840
HP:0001252	Hypotonia	60684	TRAPPC11	ORPHA:369847
HP:0001252	Hypotonia	9968	MED12	ORPHA:293707
HP:0001252	Hypotonia	55280	CWF19L1	ORPHA:453521
HP:0001252	Hypotonia	35	ACADS	ORPHA:26792
HP:0001252	Hypotonia	55690	PACS1	ORPHA:329224
HP:0001252	Hypotonia	7227	TRPS1	OMIM:190350
HP:0001252	Hypotonia	6638	SNRPN	ORPHA:411515
HP:0001252	Hypotonia	57194	ATP10A	ORPHA:411515
HP:0001252	Hypotonia	6792	CDKL5	ORPHA:1934
HP:0001252	Hypotonia	3736	KCNA1	ORPHA:1934
HP:0001252	Hypotonia	2775	GNAO1	ORPHA:1934
HP:0001252	Hypotonia	81603	TRIM8	ORPHA:1934
HP:0001252	Hypotonia	79751	SLC25A22	ORPHA:1934
HP:0001252	Hypotonia	150094	SIK1	ORPHA:1934
HP:0001252	Hypotonia	23312	DMXL2	ORPHA:1934
HP:0001252	Hypotonia	11284	PNKP	ORPHA:1934
HP:0001252	Hypotonia	84705	GTPBP3	ORPHA:444013
HP:0001252	Hypotonia	80816	ASXL3	ORPHA:352577
HP:0001252	Hypotonia	84340	GFM2	ORPHA:565624
HP:0001252	Hypotonia	25914	RTTN	ORPHA:468631
HP:0001252	Hypotonia	29968	PSAT1	ORPHA:284417
HP:0001252	Hypotonia	283989	TSEN54	ORPHA:2524
HP:0001252	Hypotonia	79042	TSEN34	ORPHA:2524
HP:0001252	Hypotonia	51091	SEPSECS	ORPHA:2524
HP:0001252	Hypotonia	96459	FNIP1	OMIM:619705
HP:0001252	Hypotonia	1497	CTNS	OMIM:219800
HP:0011399	Tibialis anterior muscle atrophy	8291	DYSF	ORPHA:45448
HP:0011399	Tibialis anterior muscle atrophy	6261	RYR1	ORPHA:98905
HP:0011399	Tibialis anterior muscle atrophy	91574	MTRFR	OMIM:615035
HP:0011399	Tibialis anterior muscle atrophy	4625	MYH7	OMIM:160500
HP:0011390	Morphological abnormality of the inner ear	1678	TIMM8A	ORPHA:52368
HP:0011390	Morphological abnormality of the inner ear	64072	CDH23	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	10083	USH1C	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	124590	USH1G	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	83715	ESPN	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	10518	CIB2	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	4647	MYO7A	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	65217	PCDH15	ORPHA:231169
HP:0011390	Morphological abnormality of the inner ear	8295	TRRAP	OMIM:618778
HP:0011390	Morphological abnormality of the inner ear	4693	NDP	ORPHA:649
HP:0011390	Morphological abnormality of the inner ear	26040	SETBP1	ORPHA:798
HP:0011390	Morphological abnormality of the inner ear	7401	CLRN1	ORPHA:231183
HP:0011390	Morphological abnormality of the inner ear	22901	ARSG	ORPHA:231183
HP:0011390	Morphological abnormality of the inner ear	4575	MT-TS2	ORPHA:231183
HP:0011390	Morphological abnormality of the inner ear	3035	HARS1	ORPHA:231183
HP:0011390	Morphological abnormality of the inner ear	84131	CEP78	ORPHA:231183
HP:0011390	Morphological abnormality of the inner ear	23498	HAAO	OMIM:617660
HP:0011390	Morphological abnormality of the inner ear	4998	ORC1	OMIM:224690
HP:0011390	Morphological abnormality of the inner ear	5456	POU3F4	OMIM:304400
HP:0011390	Morphological abnormality of the inner ear	5456	POU3F4	ORPHA:1435
HP:0011390	Morphological abnormality of the inner ear	10804	GJB6	OMIM:304400
HP:0011390	Morphological abnormality of the inner ear	2706	GJB2	OMIM:304400
HP:0011390	Morphological abnormality of the inner ear	1690	COCH	OMIM:601369
HP:0011390	Morphological abnormality of the inner ear	5190	PEX6	ORPHA:95433
HP:0011390	Morphological abnormality of the inner ear	10847	SRCAP	ORPHA:2044
HP:0011390	Morphological abnormality of the inner ear	1663	DDX11	OMIM:613398
HP:0011390	Morphological abnormality of the inner ear	2248	FGF3	ORPHA:90024
HP:0011390	Morphological abnormality of the inner ear	2248	FGF3	OMIM:610706
HP:0011390	Morphological abnormality of the inner ear	1288	COL4A6	OMIM:300914
HP:0011390	Morphological abnormality of the inner ear	6663	SOX10	OMIM:611584
HP:0011390	Morphological abnormality of the inner ear	80000	GREB1L	OMIM:619274
HP:0011390	Morphological abnormality of the inner ear	2263	FGFR2	ORPHA:87
HP:0011390	Morphological abnormality of the inner ear	54845	ESRP1	OMIM:618013
HP:0011390	Morphological abnormality of the inner ear	22800	RRAS2	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	867	CBL	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	8216	LZTR1	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	6016	RIT1	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	6237	RRAS	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	5894	RAF1	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	22808	MRAS	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	3845	KRAS	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	200734	SPRED2	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	4893	NRAS	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	6654	SOS1	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	6655	SOS2	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	5781	PTPN11	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	5922	RASA2	ORPHA:648
HP:0011390	Morphological abnormality of the inner ear	55636	CHD7	ORPHA:138
HP:0011390	Morphological abnormality of the inner ear	9723	SEMA3E	ORPHA:138
HP:0011390	Morphological abnormality of the inner ear	57167	SALL4	ORPHA:233
HP:0011390	Morphological abnormality of the inner ear	9935	MAFB	ORPHA:233
HP:0011390	Morphological abnormality of the inner ear	1123	CHN1	ORPHA:233
HP:0011390	Morphological abnormality of the inner ear	7291	TWIST1	ORPHA:794
HP:0011390	Morphological abnormality of the inner ear	2261	FGFR3	ORPHA:794
HP:0011390	Morphological abnormality of the inner ear	84172	POLR1B	ORPHA:861
HP:0011390	Morphological abnormality of the inner ear	9533	POLR1C	ORPHA:861
HP:0011390	Morphological abnormality of the inner ear	51082	POLR1D	ORPHA:861
HP:0011390	Morphological abnormality of the inner ear	6949	TCOF1	ORPHA:861
HP:0011390	Morphological abnormality of the inner ear	5396	PRRX1	ORPHA:990
HP:0011390	Morphological abnormality of the inner ear	5015	OTX2	ORPHA:990
HP:0011390	Morphological abnormality of the inner ear	2077	ERF	ORPHA:207
HP:0011390	Morphological abnormality of the inner ear	5728	PTEN	ORPHA:744
HP:0011390	Morphological abnormality of the inner ear	207	AKT1	ORPHA:744
HP:0011390	Morphological abnormality of the inner ear	3265	HRAS	ORPHA:79414
HP:0011390	Morphological abnormality of the inner ear	3766	KCNJ10	OMIM:600791
HP:0011390	Morphological abnormality of the inner ear	3766	KCNJ10	ORPHA:705
HP:0011390	Morphological abnormality of the inner ear	2299	FOXI1	OMIM:600791
HP:0011390	Morphological abnormality of the inner ear	2299	FOXI1	ORPHA:705
HP:0011390	Morphological abnormality of the inner ear	5172	SLC26A4	OMIM:600791
HP:0011390	Morphological abnormality of the inner ear	5172	SLC26A4	ORPHA:705
HP:0011390	Morphological abnormality of the inner ear	2138	EYA1	OMIM:113650
HP:0011390	Morphological abnormality of the inner ear	6495	SIX1	OMIM:113650
HP:0011390	Morphological abnormality of the inner ear	6885	MAP3K7	OMIM:157800
HP:0011390	Morphological abnormality of the inner ear	147912	SIX5	ORPHA:107
HP:0011390	Morphological abnormality of the inner ear	4363	ABCC1	OMIM:618915
HP:0011390	Morphological abnormality of the inner ear	259236	TMIE	OMIM:600971
HP:0011390	Morphological abnormality of the inner ear	84196	USP48	OMIM:620227
HP:0011390	Morphological abnormality of the inner ear	9131	AIFM1	OMIM:300614
HP:0008338	Partial functional complement factor D deficiency	1675	CFD	OMIM:613912
HP:0008339	Diaminoaciduria	383	ARG1	OMIM:207800
HP:0008339	Diaminoaciduria	383	ARG1	ORPHA:90
HP:0008316	Abnormal mitochondria in muscle tissue	4568	MT-TL2	ORPHA:663
HP:0008316	Abnormal mitochondria in muscle tissue	4567	MT-TL1	ORPHA:663
HP:0008316	Abnormal mitochondria in muscle tissue	4567	MT-TL1	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4570	MT-TN	ORPHA:663
HP:0008316	Abnormal mitochondria in muscle tissue	4574	MT-TS1	ORPHA:663
HP:0008316	Abnormal mitochondria in muscle tissue	4574	MT-TS1	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4558	MT-TF	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4572	MT-TQ	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4512	MT-CO1	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4513	MT-CO2	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4514	MT-CO3	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4578	MT-TW	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4540	MT-ND5	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4541	MT-ND6	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4535	MT-ND1	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4535	MT-ND1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4538	MT-ND4	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4575	MT-TS2	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	4564	MT-TH	ORPHA:550
HP:0008316	Abnormal mitochondria in muscle tissue	54539	NDUFB11	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	25915	NDUFAF3	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	51103	NDUFAF1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	91942	NDUFAF2	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	51300	TIMMDC1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4716	NDUFB10	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4723	NDUFV1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	55572	FOXRED1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	284184	NDUFAF8	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	55863	TMEM126B	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4537	MT-ND3	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4729	NDUFV2	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4694	NDUFA1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4720	NDUFS2	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4724	NDUFS4	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4726	NDUFS6	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4728	NDUFS8	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4722	NDUFS3	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	79133	NDUFAF5	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	126328	NDUFA11	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4709	NDUFB3	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	80224	NUBPL	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	29078	NDUFAF4	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	374291	NDUFS7	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4700	NDUFA6	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4536	MT-ND2	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4719	NDUFS1	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4715	NDUFB9	ORPHA:2609
HP:0008316	Abnormal mitochondria in muscle tissue	4508	MT-ATP6	ORPHA:644
HP:0008316	Abnormal mitochondria in muscle tissue	10939	AFG3L2	ORPHA:313772
HP:0008316	Abnormal mitochondria in muscle tissue	6389	SDHA	OMIM:252011
HP:0008316	Abnormal mitochondria in muscle tissue	4625	MYH7	ORPHA:59135
HP:0008341	Distal renal tubular acidosis	2625	GATA3	OMIM:146255
HP:0008341	Distal renal tubular acidosis	50617	ATP6V0A4	OMIM:602722
HP:0008341	Distal renal tubular acidosis	10686	CLDN16	OMIM:248250
HP:0008341	Distal renal tubular acidosis	6928	HNF1B	ORPHA:1309
HP:0008341	Distal renal tubular acidosis	6521	SLC4A1	OMIM:611590
HP:0008341	Distal renal tubular acidosis	6521	SLC4A1	OMIM:179800
HP:0008341	Distal renal tubular acidosis	760	CA2	OMIM:259730
HP:0008341	Distal renal tubular acidosis	760	CA2	ORPHA:2785
HP:0003141	Increased LDL cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	3949	LDLR	OMIM:143890
HP:0003141	Increased LDL cholesterol concentration	255738	PCSK9	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	26119	LDLRAP1	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	338	APOB	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	338	APOB	OMIM:144010
HP:0003141	Increased LDL cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0003141	Increased LDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0003141	Increased LDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0003141	Increased LDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0003141	Increased LDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0003141	Increased LDL cholesterol concentration	213	ALB	OMIM:616000
HP:0003141	Increased LDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0003141	Increased LDL cholesterol concentration	336	APOA2	OMIM:143890
HP:0003141	Increased LDL cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0003141	Increased LDL cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0003141	Increased LDL cholesterol concentration	2690	GHR	OMIM:143890
HP:0003141	Increased LDL cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0003141	Increased LDL cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0003141	Increased LDL cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0003141	Increased LDL cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0003141	Increased LDL cholesterol concentration	2010	EMD	ORPHA:98863
HP:0003141	Increased LDL cholesterol concentration	20	ABCA2	OMIM:618808
HP:0003141	Increased LDL cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0003141	Increased LDL cholesterol concentration	4040	LRP6	OMIM:610947
HP:0003141	Increased LDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0003141	Increased LDL cholesterol concentration	4000	LMNA	OMIM:616516
HP:0003141	Increased LDL cholesterol concentration	4000	LMNA	ORPHA:98855
HP:0003141	Increased LDL cholesterol concentration	4000	LMNA	ORPHA:98853
HP:0003141	Increased LDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0003141	Increased LDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0003141	Increased LDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0003141	Increased LDL cholesterol concentration	7274	TTPA	OMIM:277460
HP:0003141	Increased LDL cholesterol concentration	348	APOE	ORPHA:412
HP:0003141	Increased LDL cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0003141	Increased LDL cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0003141	Increased LDL cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0008344	Elevated circulating branched chain amino acid concentration	1738	DLD	ORPHA:2394
HP:0008344	Elevated circulating branched chain amino acid concentration	1629	DBT	OMIM:248600
HP:0008344	Elevated circulating branched chain amino acid concentration	593	BCKDHA	OMIM:248600
HP:0008344	Elevated circulating branched chain amino acid concentration	594	BCKDHB	OMIM:248600
HP:0001180	Hand oligodactyly	157570	ESCO2	OMIM:268300
HP:0001180	Hand oligodactyly	64840	PORCN	OMIM:305600
HP:0001180	Hand oligodactyly	7480	WNT10B	OMIM:225300
HP:0001180	Hand oligodactyly	7476	WNT7A	OMIM:228930
HP:0001180	Hand oligodactyly	7476	WNT7A	ORPHA:2879
HP:0001180	Hand oligodactyly	7476	WNT7A	OMIM:276820
HP:0001180	Hand oligodactyly	9401	RECQL4	ORPHA:1225
HP:0001180	Hand oligodactyly	25836	NIPBL	OMIM:122470
HP:0001180	Hand oligodactyly	6154	RPL26	OMIM:614900
HP:0001180	Hand oligodactyly	64093	SMOC1	OMIM:206920
HP:0001180	Hand oligodactyly	64093	SMOC1	ORPHA:1106
HP:0001180	Hand oligodactyly	1749	DLX5	OMIM:183600
HP:0001180	Hand oligodactyly	10262	SF3B4	ORPHA:1788
HP:0001180	Hand oligodactyly	55636	CHD7	OMIM:214800
HP:0001180	Hand oligodactyly	727857	BHLHA9	ORPHA:1986
HP:0001188	Hand clenching	7169	TPM2	OMIM:108120
HP:0001188	Hand clenching	3187	HNRNPH1	OMIM:620083
HP:0001188	Hand clenching	8506	CNTNAP1	OMIM:618186
HP:0001188	Hand clenching	1020	CDK5	OMIM:616342
HP:0001188	Hand clenching	56006	SMG9	OMIM:616920
HP:0001188	Hand clenching	2733	GLE1	OMIM:611890
HP:0001188	Hand clenching	1861	TOR1A	OMIM:618947
HP:0001188	Hand clenching	55681	SCYL2	OMIM:618766
HP:0001188	Hand clenching	84942	WDR73	OMIM:251300
HP:0001188	Hand clenching	7841	MOGS	OMIM:606056
HP:0001188	Hand clenching	4703	NEB	OMIM:256030
HP:0001188	Hand clenching	23345	SYNE1	ORPHA:319332
HP:0001188	Hand clenching	23299	BICD2	OMIM:618291
HP:0001188	Hand clenching	2317	FLNB	ORPHA:56305
HP:0001188	Hand clenching	2898	GRIK2	OMIM:619580
HP:0001188	Hand clenching	54880	BCOR	OMIM:300166
HP:0001188	Hand clenching	57498	KIDINS220	OMIM:619501
HP:0001188	Hand clenching	80816	ASXL3	OMIM:615485
HP:0001188	Hand clenching	6536	SLC6A9	OMIM:617301
HP:0001188	Hand clenching	51741	WWOX	OMIM:616211
HP:0001188	Hand clenching	84162	BLTP1	OMIM:617822
HP:0001188	Hand clenching	667	DST	OMIM:614653
HP:0001188	Hand clenching	2782	GNB1	OMIM:616973
HP:0001188	Hand clenching	3897	L1CAM	ORPHA:2466
HP:0001188	Hand clenching	529	ATP6V1E1	OMIM:617402
HP:0001188	Hand clenching	4654	MYOD1	OMIM:618975
HP:0001188	Hand clenching	54676	GTPBP2	OMIM:617988
HP:0001188	Hand clenching	4137	MAPT	ORPHA:240103
HP:0001188	Hand clenching	10716	TBR1	ORPHA:1617
HP:0001188	Hand clenching	3736	KCNA1	ORPHA:37612
HP:0008347	Decreased activity of mitochondrial complex IV	10128	LRPPRC	OMIM:220111
HP:0008347	Decreased activity of mitochondrial complex IV	10128	LRPPRC	ORPHA:70472
HP:0008347	Decreased activity of mitochondrial complex IV	9997	SCO2	OMIM:604377
HP:0008347	Decreased activity of mitochondrial complex IV	51241	COX16	OMIM:619355
HP:0008347	Decreased activity of mitochondrial complex IV	26235	FBXL4	OMIM:615471
HP:0008347	Decreased activity of mitochondrial complex IV	51102	MECR	ORPHA:508093
HP:0008347	Decreased activity of mitochondrial complex IV	498	ATP5F1A	OMIM:616045
HP:0008347	Decreased activity of mitochondrial complex IV	80308	FLAD1	OMIM:255100
HP:0008347	Decreased activity of mitochondrial complex IV	400916	CHCHD10	OMIM:616209
HP:0008347	Decreased activity of mitochondrial complex IV	85476	GFM1	OMIM:609060
HP:0008347	Decreased activity of mitochondrial complex IV	123263	MTFMT	OMIM:614947
HP:0008347	Decreased activity of mitochondrial complex IV	10102	TSFM	OMIM:610505
HP:0008347	Decreased activity of mitochondrial complex IV	57176	VARS2	OMIM:615917
HP:0008347	Decreased activity of mitochondrial complex IV	56945	MRPS22	OMIM:611719
HP:0008347	Decreased activity of mitochondrial complex IV	92667	MGME1	OMIM:615084
HP:0008347	Decreased activity of mitochondrial complex IV	6182	MRPL12	OMIM:618951
HP:0008347	Decreased activity of mitochondrial complex IV	79587	CARS2	ORPHA:477774
HP:0008347	Decreased activity of mitochondrial complex IV	79587	CARS2	OMIM:616672
HP:0008347	Decreased activity of mitochondrial complex IV	291	SLC25A4	OMIM:617184
HP:0008347	Decreased activity of mitochondrial complex IV	291	SLC25A4	OMIM:615418
HP:0008347	Decreased activity of mitochondrial complex IV	84340	GFM2	OMIM:618397
HP:0008347	Decreased activity of mitochondrial complex IV	55278	QRSL1	OMIM:618835
HP:0008347	Decreased activity of mitochondrial complex IV	5428	POLG	OMIM:613662
HP:0008347	Decreased activity of mitochondrial complex IV	57570	TRMT5	OMIM:616539
HP:0008347	Decreased activity of mitochondrial complex IV	51649	MRPS23	OMIM:618952
HP:0008347	Decreased activity of mitochondrial complex IV	57038	RARS2	OMIM:611523
HP:0008347	Decreased activity of mitochondrial complex IV	283459	GATC	OMIM:618839
HP:0008347	Decreased activity of mitochondrial complex IV	28958	COA3	OMIM:619058
HP:0008347	Decreased activity of mitochondrial complex IV	54802	TRIT1	OMIM:617873
HP:0008347	Decreased activity of mitochondrial complex IV	116228	COX20	OMIM:619054
HP:0008347	Decreased activity of mitochondrial complex IV	100131801	PET100	OMIM:619055
HP:0008347	Decreased activity of mitochondrial complex IV	63899	NSUN3	OMIM:619012
HP:0008347	Decreased activity of mitochondrial complex IV	388753	COA6	OMIM:616501
HP:0008347	Decreased activity of mitochondrial complex IV	7084	TK2	OMIM:609560
HP:0008347	Decreased activity of mitochondrial complex IV	493753	COA5	OMIM:616500
HP:0008347	Decreased activity of mitochondrial complex IV	4358	MPV17	OMIM:256810
HP:0008347	Decreased activity of mitochondrial complex IV	29960	MRM2	OMIM:618567
HP:0008347	Decreased activity of mitochondrial complex IV	708	C1QBP	OMIM:617713
HP:0008347	Decreased activity of mitochondrial complex IV	64116	SLC39A8	ORPHA:468699
HP:0008347	Decreased activity of mitochondrial complex IV	91574	MTRFR	OMIM:613559
HP:0008347	Decreased activity of mitochondrial complex IV	124454	EARS2	OMIM:614924
HP:0008347	Decreased activity of mitochondrial complex IV	54675	CRLS1	OMIM:620167
HP:0008347	Decreased activity of mitochondrial complex IV	55750	AGK	OMIM:212350
HP:0008347	Decreased activity of mitochondrial complex IV	23479	ISCU	OMIM:255125
HP:0008347	Decreased activity of mitochondrial complex IV	1716	DGUOK	OMIM:251880
HP:0008347	Decreased activity of mitochondrial complex IV	84334	COA8	OMIM:619061
HP:0008347	Decreased activity of mitochondrial complex IV	1339	COX6A2	OMIM:619062
HP:0008347	Decreased activity of mitochondrial complex IV	8802	SUCLG1	OMIM:245400
HP:0008347	Decreased activity of mitochondrial complex IV	8802	SUCLG1	ORPHA:17
HP:0008347	Decreased activity of mitochondrial complex IV	100303755	PET117	OMIM:619063
HP:0008347	Decreased activity of mitochondrial complex IV	80324	PUS1	OMIM:600462
HP:0008347	Decreased activity of mitochondrial complex IV	9377	COX5A	OMIM:619064
HP:0008347	Decreased activity of mitochondrial complex IV	1327	COX4I1	OMIM:619060
HP:0008347	Decreased activity of mitochondrial complex IV	64432	MRPS25	OMIM:619025
HP:0008347	Decreased activity of mitochondrial complex IV	57505	AARS2	OMIM:614096
HP:0008347	Decreased activity of mitochondrial complex IV	29928	TIMM22	OMIM:618851
HP:0008347	Decreased activity of mitochondrial complex IV	63931	MRPS14	OMIM:618378
HP:0008347	Decreased activity of mitochondrial complex IV	4697	NDUFA4	OMIM:619065
HP:0008347	Decreased activity of mitochondrial complex IV	115286	SLC25A26	OMIM:616794
HP:0008347	Decreased activity of mitochondrial complex IV	51067	YARS2	OMIM:613561
HP:0008347	Decreased activity of mitochondrial complex IV	50484	RRM2B	OMIM:612075
HP:0008347	Decreased activity of mitochondrial complex IV	125170	MIEF2	OMIM:619024
HP:0008347	Decreased activity of mitochondrial complex IV	84705	GTPBP3	OMIM:616198
HP:0008347	Decreased activity of mitochondrial complex IV	84705	GTPBP3	ORPHA:444013
HP:0008347	Decreased activity of mitochondrial complex IV	9131	AIFM1	OMIM:300816
HP:0008347	Decreased activity of mitochondrial complex IV	84300	UQCC2	OMIM:615824
HP:0008347	Decreased activity of mitochondrial complex IV	51021	MRPS16	OMIM:610498
HP:0008347	Decreased activity of mitochondrial complex IV	79731	NARS2	OMIM:616239
HP:0008346	Increased red cell sickling tendency	3043	HBB	OMIM:603903
HP:0008346	Increased red cell sickling tendency	3043	HBB	ORPHA:251380
HP:0008346	Increased red cell sickling tendency	53335	BCL11A	ORPHA:251380
HP:0008346	Increased red cell sickling tendency	10661	KLF1	ORPHA:251380
HP:0008346	Increased red cell sickling tendency	3047	HBG1	ORPHA:251380
HP:0008346	Increased red cell sickling tendency	3048	HBG2	ORPHA:251380
HP:0003125	Reduced factor VIII activity	2157	F8	OMIM:306700
HP:0003125	Reduced factor VIII activity	2157	F8	ORPHA:177926
HP:0003125	Reduced factor VIII activity	2157	F8	ORPHA:169805
HP:0003125	Reduced factor VIII activity	2157	F8	ORPHA:169802
HP:0003125	Reduced factor VIII activity	7450	VWF	OMIM:193400
HP:0003125	Reduced factor VIII activity	7450	VWF	OMIM:277480
HP:0003125	Reduced factor VIII activity	3998	LMAN1	OMIM:227300
HP:0003125	Reduced factor VIII activity	3998	LMAN1	ORPHA:35909
HP:0003125	Reduced factor VIII activity	90411	MCFD2	ORPHA:35909
HP:0003125	Reduced factor VIII activity	90411	MCFD2	OMIM:613625
HP:0003125	Reduced factor VIII activity	6654	SOS1	OMIM:610733
HP:0008315	Decreased plasma free carnitine	1376	CPT2	OMIM:608836
HP:0008315	Decreased plasma free carnitine	1376	CPT2	ORPHA:228305
HP:0008315	Decreased plasma free carnitine	1376	CPT2	ORPHA:228308
HP:0008315	Decreased plasma free carnitine	6341	SCO1	OMIM:619048
HP:0008315	Decreased plasma free carnitine	133686	NADK2	OMIM:616034
HP:0008318	Elevated leukocyte alkaline phosphatase	1441	CSF3R	OMIM:162830
HP:0008306	Abnormal iron deposition in mitochondria	23479	ISCU	OMIM:255125
HP:0034200	Abnormal CSF homovanillic acid concentration	2643	GCH1	ORPHA:98808
HP:0034200	Abnormal CSF homovanillic acid concentration	4929	NR4A2	ORPHA:98808
HP:0034200	Abnormal CSF homovanillic acid concentration	4929	NR4A2	OMIM:619911
HP:0034200	Abnormal CSF homovanillic acid concentration	3615	IMPDH2	ORPHA:98808
HP:0034200	Abnormal CSF homovanillic acid concentration	7054	TH	OMIM:605407
HP:0034200	Abnormal CSF homovanillic acid concentration	7054	TH	ORPHA:101150
HP:0034200	Abnormal CSF homovanillic acid concentration	55163	PNPO	ORPHA:79096
HP:0034200	Abnormal CSF homovanillic acid concentration	55163	PNPO	OMIM:610090
HP:0034200	Abnormal CSF homovanillic acid concentration	5805	PTS	OMIM:261640
HP:0034200	Abnormal CSF homovanillic acid concentration	1644	DDC	OMIM:608643
HP:0034200	Abnormal CSF homovanillic acid concentration	9256	TSPOAP1	ORPHA:101150
HP:0034200	Abnormal CSF homovanillic acid concentration	55768	NGLY1	ORPHA:404454
HP:0034200	Abnormal CSF homovanillic acid concentration	6531	SLC6A3	OMIM:613135
HP:0034201	Increased CSF homovanillic acid concentration	6531	SLC6A3	OMIM:613135
HP:0034202	Abnormal iduronate sulfatase concentration	84572	GNPTG	OMIM:252605
HP:0034202	Abnormal iduronate sulfatase concentration	79158	GNPTAB	OMIM:252600
HP:0034202	Abnormal iduronate sulfatase concentration	79158	GNPTAB	OMIM:252500
HP:0034202	Abnormal iduronate sulfatase concentration	3423	IDS	OMIM:309900
HP:0034203	Decreased iduronate sulfatase level	3423	IDS	OMIM:309900
HP:0034204	Decreased circulating C1-esterase inhibitor concentration	710	SERPING1	OMIM:106100
HP:0001191	Abnormal carpal morphology	2131	EXT1	ORPHA:321
HP:0001191	Abnormal carpal morphology	2132	EXT2	ORPHA:321
HP:0001191	Abnormal carpal morphology	51199	NIN	OMIM:614851
HP:0001191	Abnormal carpal morphology	51199	NIN	ORPHA:319675
HP:0001191	Abnormal carpal morphology	6910	TBX5	OMIM:142900
HP:0001191	Abnormal carpal morphology	6473	SHOX	ORPHA:240
HP:0001191	Abnormal carpal morphology	6473	SHOX	OMIM:127300
HP:0001191	Abnormal carpal morphology	6473	SHOX	ORPHA:2632
HP:0001191	Abnormal carpal morphology	5307	PITX1	OMIM:186550
HP:0001191	Abnormal carpal morphology	157570	ESCO2	OMIM:216100
HP:0001191	Abnormal carpal morphology	5745	PTH1R	OMIM:600002
HP:0001191	Abnormal carpal morphology	9361	LONP1	OMIM:600373
HP:0001191	Abnormal carpal morphology	8720	MBTPS1	OMIM:618392
HP:0001191	Abnormal carpal morphology	3549	IHH	OMIM:607778
HP:0001191	Abnormal carpal morphology	633	BGN	OMIM:300106
HP:0001191	Abnormal carpal morphology	9321	TRIP11	OMIM:184260
HP:0001191	Abnormal carpal morphology	2137	EXTL3	OMIM:617425
HP:0001191	Abnormal carpal morphology	55325	UFSP2	OMIM:617974
HP:0001191	Abnormal carpal morphology	6023	RMRP	OMIM:607095
HP:0001191	Abnormal carpal morphology	3209	HOXA13	OMIM:140000
HP:0001191	Abnormal carpal morphology	1280	COL2A1	ORPHA:93346
HP:0001191	Abnormal carpal morphology	865	CBFB	OMIM:620099
HP:0001191	Abnormal carpal morphology	4796	TONSL	OMIM:271510
HP:0001191	Abnormal carpal morphology	4148	MATN3	OMIM:607078
HP:0001191	Abnormal carpal morphology	55650	PIGV	OMIM:239300
HP:0001191	Abnormal carpal morphology	538	ATP7A	OMIM:304150
HP:0001191	Abnormal carpal morphology	54928	BPNT2	OMIM:614078
HP:0001191	Abnormal carpal morphology	4313	MMP2	ORPHA:371428
HP:0001191	Abnormal carpal morphology	4313	MMP2	OMIM:259600
HP:0001191	Abnormal carpal morphology	4323	MMP14	ORPHA:371428
HP:0001191	Abnormal carpal morphology	4323	MMP14	OMIM:277950
HP:0001191	Abnormal carpal morphology	9935	MAFB	OMIM:166300
HP:0001191	Abnormal carpal morphology	9935	MAFB	ORPHA:2774
HP:0001191	Abnormal carpal morphology	1311	COMP	OMIM:177170
HP:0001191	Abnormal carpal morphology	54808	DYM	OMIM:223800
HP:0001191	Abnormal carpal morphology	59341	TRPV4	OMIM:184252
HP:0001191	Abnormal carpal morphology	59341	TRPV4	ORPHA:93314
HP:0001191	Abnormal carpal morphology	3835	KIF22	OMIM:603546
HP:0001191	Abnormal carpal morphology	9451	EIF2AK3	OMIM:226980
HP:0001191	Abnormal carpal morphology	23233	EXOC6B	OMIM:618395
HP:0001191	Abnormal carpal morphology	89970	RSPRY1	ORPHA:457395
HP:0001191	Abnormal carpal morphology	89970	RSPRY1	OMIM:616723
HP:0001191	Abnormal carpal morphology	57167	SALL4	OMIM:147750
HP:0001191	Abnormal carpal morphology	54187	NANS	OMIM:610442
HP:0001191	Abnormal carpal morphology	79158	GNPTAB	OMIM:252600
HP:0001191	Abnormal carpal morphology	79158	GNPTAB	OMIM:252500
HP:0001191	Abnormal carpal morphology	9939	RBM8A	OMIM:274000
HP:0001191	Abnormal carpal morphology	5832	ALDH18A1	OMIM:601162
HP:0001191	Abnormal carpal morphology	84068	SLC10A7	OMIM:618363
HP:0001191	Abnormal carpal morphology	29072	SETD2	OMIM:616831
HP:0001191	Abnormal carpal morphology	5144	PDE4D	OMIM:614613
HP:0001191	Abnormal carpal morphology	64131	XYLT1	OMIM:615777
HP:0001191	Abnormal carpal morphology	347734	SLC35B2	OMIM:620269
HP:0001191	Abnormal carpal morphology	23169	SLC35D1	OMIM:269250
HP:0001191	Abnormal carpal morphology	124583	CANT1	OMIM:617719
HP:0001191	Abnormal carpal morphology	124583	CANT1	OMIM:251450
HP:0001191	Abnormal carpal morphology	23592	LEMD3	ORPHA:166119
HP:0001191	Abnormal carpal morphology	10682	EBP	OMIM:302960
HP:0001191	Abnormal carpal morphology	10568	SLC34A2	ORPHA:60025
HP:0001191	Abnormal carpal morphology	3417	IDH1	ORPHA:99646
HP:0001191	Abnormal carpal morphology	64327	LMBR1	ORPHA:93321
HP:0001191	Abnormal carpal morphology	6469	SHH	ORPHA:93321
HP:0001191	Abnormal carpal morphology	64359	NXN	ORPHA:1507
HP:0001191	Abnormal carpal morphology	4920	ROR2	ORPHA:1507
HP:0001191	Abnormal carpal morphology	64093	SMOC1	ORPHA:1106
HP:0001191	Abnormal carpal morphology	5566	PRKACA	ORPHA:289
HP:0001191	Abnormal carpal morphology	5567	PRKACB	ORPHA:289
HP:0001191	Abnormal carpal morphology	2735	GLI1	ORPHA:289
HP:0001191	Abnormal carpal morphology	2121	EVC	ORPHA:289
HP:0001191	Abnormal carpal morphology	51626	DYNC2LI1	ORPHA:289
HP:0001191	Abnormal carpal morphology	132884	EVC2	ORPHA:289
HP:0001191	Abnormal carpal morphology	727857	BHLHA9	ORPHA:157801
HP:0001191	Abnormal carpal morphology	9555	MACROH2A1	ORPHA:1275
HP:0001191	Abnormal carpal morphology	4038	LRP4	ORPHA:3258
HP:0001191	Abnormal carpal morphology	324	APC	ORPHA:3258
HP:0001191	Abnormal carpal morphology	2263	FGFR2	OMIM:101200
HP:0001191	Abnormal carpal morphology	9469	CHST3	OMIM:143095
HP:0001191	Abnormal carpal morphology	2719	GPC3	OMIM:312870
HP:0001191	Abnormal carpal morphology	2239	GPC4	OMIM:312870
HP:0001191	Abnormal carpal morphology	4853	NOTCH2	OMIM:102500
HP:0001191	Abnormal carpal morphology	7476	WNT7A	OMIM:276820
HP:0001191	Abnormal carpal morphology	4921	DDR2	OMIM:271665
HP:0001191	Abnormal carpal morphology	5167	ENPP1	ORPHA:51608
HP:0001191	Abnormal carpal morphology	368	ABCC6	ORPHA:51608
HP:0001191	Abnormal carpal morphology	4621	MYH3	OMIM:178110
HP:0001191	Abnormal carpal morphology	2316	FLNA	OMIM:305620
HP:0001191	Abnormal carpal morphology	2316	FLNA	ORPHA:90652
HP:0001191	Abnormal carpal morphology	5447	POR	OMIM:201750
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:186570
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:611377
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:186500
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:185800
HP:0001191	Abnormal carpal morphology	85301	COL27A1	OMIM:615155
HP:0001191	Abnormal carpal morphology	2261	FGFR3	ORPHA:53271
HP:0001191	Abnormal carpal morphology	2317	FLNB	OMIM:272460
HP:0001191	Abnormal carpal morphology	22856	CHSY1	OMIM:605282
HP:0001191	Abnormal carpal morphology	5077	PAX3	OMIM:148820
HP:0001191	Abnormal carpal morphology	658	BMPR1B	OMIM:609441
HP:0001191	Abnormal carpal morphology	9401	RECQL4	OMIM:218600
HP:0001191	Abnormal carpal morphology	3239	HOXD13	OMIM:186300
HP:0001191	Abnormal carpal morphology	6885	MAP3K7	OMIM:157800
HP:0001191	Abnormal carpal morphology	2192	FBLN1	OMIM:608180
HP:0001191	Abnormal carpal morphology	126792	B3GALT6	OMIM:615349
HP:0001191	Abnormal carpal morphology	126792	B3GALT6	OMIM:271640
HP:0001191	Abnormal carpal morphology	8200	GDF5	OMIM:610017
HP:0001191	Abnormal carpal morphology	7516	XRCC2	OMIM:617247
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	63895	PIEZO2	OMIM:114300
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	56098	PCDHGC4	OMIM:619880
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1297	COL9A1	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1298	COL9A2	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1299	COL9A3	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51651	PTRH2	OMIM:616263
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51651	PTRH2	ORPHA:456312
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	8200	GDF5	OMIM:113100
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	650	BMP2	OMIM:112600
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3209	HOXA13	OMIM:140000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	29123	ANKRD11	OMIM:148050
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23483	TGDS	OMIM:616145
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1146	CHRNG	OMIM:265000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4621	MYH3	ORPHA:2053
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4621	MYH3	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4621	MYH3	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:2053
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7476	WNT7A	OMIM:228930
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7169	TPM2	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7169	TPM2	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7136	TNNI2	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7136	TNNI2	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23233	EXOC6B	ORPHA:93359
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	126792	B3GALT6	ORPHA:93359
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4604	MYBPC1	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	22930	RAB3GAP1	ORPHA:1387
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	25782	RAB3GAP2	ORPHA:1387
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5077	PAX3	ORPHA:1529
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1836	SLC26A2	ORPHA:628
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1836	SLC26A2	OMIM:222600
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6473	SHOX	ORPHA:2632
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	50945	TBX22	ORPHA:921
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3265	HRAS	ORPHA:3071
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	613	BCR	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1399	CRKL	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5594	MAPK1	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3977	LIFR	OMIM:601559
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3239	HOXD13	ORPHA:93406
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	2201	FBN2	OMIM:121050
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1717	DHCR7	ORPHA:818
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6299	SALL1	ORPHA:857
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51339	DACT1	ORPHA:857
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	658	BMPR1B	ORPHA:93384
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	10225	CD96	OMIM:211750
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9382	COG1	OMIM:611209
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	389827	MYMK	ORPHA:1358
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	101929726	MYMX	ORPHA:1358
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3930	LBR	OMIM:215140
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23111	SPART	OMIM:275900
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	55131	RBM28	ORPHA:157954
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	55131	RBM28	OMIM:612079
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4123	MAN2C1	OMIM:619775
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9968	MED12	OMIM:300895
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	56896	DPYSL5	OMIM:619435
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4593	MUSK	OMIM:208150
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6885	MAP3K7	OMIM:617137
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6885	MAP3K7	ORPHA:1826
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	57211	ADGRG6	OMIM:616503
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	2316	FLNA	ORPHA:1826
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9939	RBM8A	OMIM:274000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1311	COMP	OMIM:177170
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23299	BICD2	OMIM:618291
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261537
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261552
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79796	ALG9	ORPHA:79328
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79796	ALG9	OMIM:263210
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	80816	ASXL3	OMIM:615485
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	80776	B9D2	OMIM:614175
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	22858	CILK1	OMIM:612651
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79633	FAT4	OMIM:615546
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9935	MAFB	OMIM:166300
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	118924	FRA10AC1	OMIM:620113
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3911	LAMA5	OMIM:620076
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5189	PEX1	OMIM:214100
HP:0001194	Abnormalities of placenta or umbilical cord	2294	FOXF1	OMIM:265380
HP:0001194	Abnormalities of placenta or umbilical cord	2294	FOXF1	ORPHA:210122
HP:0001194	Abnormalities of placenta or umbilical cord	7490	WT1	OMIM:608978
HP:0001194	Abnormalities of placenta or umbilical cord	5977	DPF2	OMIM:618027
HP:0001194	Abnormalities of placenta or umbilical cord	2187	FANCB	OMIM:300514
HP:0001194	Abnormalities of placenta or umbilical cord	2187	FANCB	ORPHA:3412
HP:0001194	Abnormalities of placenta or umbilical cord	2627	GATA6	ORPHA:2255
HP:0001194	Abnormalities of placenta or umbilical cord	2627	GATA6	OMIM:600001
HP:0001194	Abnormalities of placenta or umbilical cord	374879	ZNF699	OMIM:619488
HP:0001194	Abnormalities of placenta or umbilical cord	91179	SCARF2	OMIM:600920
HP:0001194	Abnormalities of placenta or umbilical cord	117581	TWIST2	OMIM:200110
HP:0001194	Abnormalities of placenta or umbilical cord	54870	QRICH1	OMIM:617982
HP:0001194	Abnormalities of placenta or umbilical cord	202018	TAPT1	OMIM:616897
HP:0001194	Abnormalities of placenta or umbilical cord	4893	NRAS	OMIM:613224
HP:0001194	Abnormalities of placenta or umbilical cord	55784	MCTP2	ORPHA:1596
HP:0001194	Abnormalities of placenta or umbilical cord	55690	PACS1	OMIM:615009
HP:0001194	Abnormalities of placenta or umbilical cord	55690	PACS1	ORPHA:329224
HP:0001194	Abnormalities of placenta or umbilical cord	4625	MYH7	OMIM:613426
HP:0001194	Abnormalities of placenta or umbilical cord	9897	WASHC5	OMIM:220210
HP:0001194	Abnormalities of placenta or umbilical cord	9897	WASHC5	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	775	CACNA1C	OMIM:601005
HP:0001194	Abnormalities of placenta or umbilical cord	84992	PIGY	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	84720	PIGO	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	93210	PGAP3	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	284098	PIGW	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	27315	PGAP2	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	55650	PIGV	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	9487	PIGL	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	3190	HNRNPK	OMIM:616580
HP:0001194	Abnormalities of placenta or umbilical cord	3339	HSPG2	OMIM:224410
HP:0001194	Abnormalities of placenta or umbilical cord	3339	HSPG2	ORPHA:1865
HP:0001194	Abnormalities of placenta or umbilical cord	84231	TRAF7	OMIM:618164
HP:0001194	Abnormalities of placenta or umbilical cord	10463	SLC30A9	OMIM:617595
HP:0001194	Abnormalities of placenta or umbilical cord	10274	STAG1	OMIM:617635
HP:0001194	Abnormalities of placenta or umbilical cord	55901	THSD1	OMIM:620244
HP:0001194	Abnormalities of placenta or umbilical cord	7473	WNT3	OMIM:273395
HP:0001194	Abnormalities of placenta or umbilical cord	3239	HOXD13	ORPHA:887
HP:0001194	Abnormalities of placenta or umbilical cord	28952	CCDC22	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	11011	TLK2	OMIM:618050
HP:0001194	Abnormalities of placenta or umbilical cord	1656	DDX6	OMIM:618653
HP:0001194	Abnormalities of placenta or umbilical cord	23384	SPECC1L	OMIM:145420
HP:0001194	Abnormalities of placenta or umbilical cord	2783	GNB2	OMIM:619503
HP:0001194	Abnormalities of placenta or umbilical cord	5062	PAK2	OMIM:618458
HP:0001194	Abnormalities of placenta or umbilical cord	79633	FAT4	OMIM:615546
HP:0001194	Abnormalities of placenta or umbilical cord	57211	ADGRG6	OMIM:616503
HP:0001194	Abnormalities of placenta or umbilical cord	10588	MTHFS	OMIM:618367
HP:0001194	Abnormalities of placenta or umbilical cord	5324	PLAG1	ORPHA:397590
HP:0001194	Abnormalities of placenta or umbilical cord	8091	HMGA2	ORPHA:397590
HP:0001194	Abnormalities of placenta or umbilical cord	3479	IGF1	ORPHA:73272
HP:0001194	Abnormalities of placenta or umbilical cord	4000	LMNA	ORPHA:1662
HP:0001194	Abnormalities of placenta or umbilical cord	4593	MUSK	OMIM:208150
HP:0001194	Abnormalities of placenta or umbilical cord	26227	PHGDH	OMIM:256520
HP:0001194	Abnormalities of placenta or umbilical cord	3930	LBR	OMIM:215140
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	54903	MKS1	OMIM:249000
HP:0001194	Abnormalities of placenta or umbilical cord	9652	SKIC3	OMIM:222470
HP:0001194	Abnormalities of placenta or umbilical cord	51371	POMP	OMIM:601952
HP:0001194	Abnormalities of placenta or umbilical cord	2706	GJB2	ORPHA:494
HP:0001194	Abnormalities of placenta or umbilical cord	2706	GJB2	OMIM:124500
HP:0001194	Abnormalities of placenta or umbilical cord	8626	TP63	ORPHA:1072
HP:0001194	Abnormalities of placenta or umbilical cord	162514	TRPV3	OMIM:614594
HP:0001194	Abnormalities of placenta or umbilical cord	25959	KANK2	OMIM:616099
HP:0001194	Abnormalities of placenta or umbilical cord	2733	GLE1	ORPHA:1486
HP:0001194	Abnormalities of placenta or umbilical cord	55612	FERMT1	OMIM:173650
HP:0001194	Abnormalities of placenta or umbilical cord	3848	KRT1	OMIM:146590
HP:0001194	Abnormalities of placenta or umbilical cord	56916	SMARCAD1	ORPHA:1658
HP:0001194	Abnormalities of placenta or umbilical cord	2697	GJA1	ORPHA:1010
HP:0001194	Abnormalities of placenta or umbilical cord	4014	LORICRIN	ORPHA:79395
HP:0001194	Abnormalities of placenta or umbilical cord	2155	F7	ORPHA:327
HP:0001194	Abnormalities of placenta or umbilical cord	5447	POR	ORPHA:95699
HP:0001194	Abnormalities of placenta or umbilical cord	526	ATP6V1B2	ORPHA:79500
HP:0001194	Abnormalities of placenta or umbilical cord	57465	TBC1D24	ORPHA:79500
HP:0001194	Abnormalities of placenta or umbilical cord	10269	ZMPSTE24	OMIM:275210
HP:0001194	Abnormalities of placenta or umbilical cord	2188	FANCF	OMIM:603467
HP:0001194	Abnormalities of placenta or umbilical cord	3075	CFH	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	3426	CFI	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	4179	CD46	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	101101692	HELLPAR	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	2165	F13B	ORPHA:331
HP:0001194	Abnormalities of placenta or umbilical cord	2162	F13A1	ORPHA:331
HP:0001194	Abnormalities of placenta or umbilical cord	5054	SERPINE1	ORPHA:465
HP:0001194	Abnormalities of placenta or umbilical cord	1028	CDKN1C	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	10984	KCNQ1OT1	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	3481	IGF2	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	3784	KCNQ1	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	199713	NLRP7	OMIM:231090
HP:0001194	Abnormalities of placenta or umbilical cord	154288	KHDC3L	OMIM:614293
HP:0001194	Abnormalities of placenta or umbilical cord	150365	MEI1	OMIM:618431
HP:0001194	Abnormalities of placenta or umbilical cord	79703	TOP6BL	OMIM:618432
HP:0001194	Abnormalities of placenta or umbilical cord	3689	ITGB2	OMIM:116920
HP:0001194	Abnormalities of placenta or umbilical cord	5880	RAC2	OMIM:608203
HP:0001194	Abnormalities of placenta or umbilical cord	3572	IL6ST	OMIM:619752
HP:0001194	Abnormalities of placenta or umbilical cord	4615	MYD88	OMIM:612260
HP:0001194	Abnormalities of placenta or umbilical cord	6603	SMARCD2	OMIM:617475
HP:0001194	Abnormalities of placenta or umbilical cord	10616	RBCK1	OMIM:615895
HP:0001194	Abnormalities of placenta or umbilical cord	92579	G6PC3	OMIM:612541
HP:0001194	Abnormalities of placenta or umbilical cord	2215	FCGR3B	ORPHA:464370
HP:0001194	Abnormalities of placenta or umbilical cord	81570	CLPB	OMIM:619835
HP:0001194	Abnormalities of placenta or umbilical cord	2321	FLT1	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	219736	STOX1	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	10699	CORIN	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	2720	GLB1	ORPHA:79255
HP:0001194	Abnormalities of placenta or umbilical cord	57061	HYMAI	ORPHA:96191
HP:0001194	Abnormalities of placenta or umbilical cord	5325	PLAGL1	ORPHA:96191
HP:0001194	Abnormalities of placenta or umbilical cord	6711	SPTBN1	OMIM:619475
HP:0001194	Abnormalities of placenta or umbilical cord	7157	TP53	OMIM:151623
HP:0001194	Abnormalities of placenta or umbilical cord	7157	TP53	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	1029	CDKN2A	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	4193	MDM2	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	11200	CHEK2	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	6794	STK11	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	8915	BCL10	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	3815	KIT	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	2261	FGFR3	OMIM:273300
HP:0001195	Single umbilical artery	2294	FOXF1	OMIM:265380
HP:0001195	Single umbilical artery	2294	FOXF1	ORPHA:210122
HP:0001195	Single umbilical artery	7490	WT1	OMIM:608978
HP:0001195	Single umbilical artery	5447	POR	OMIM:201750
HP:0001195	Single umbilical artery	5977	DPF2	OMIM:618027
HP:0001195	Single umbilical artery	2187	FANCB	OMIM:300514
HP:0001195	Single umbilical artery	2187	FANCB	ORPHA:3412
HP:0001195	Single umbilical artery	2627	GATA6	ORPHA:2255
HP:0001195	Single umbilical artery	2627	GATA6	OMIM:600001
HP:0001195	Single umbilical artery	374879	ZNF699	OMIM:619488
HP:0001195	Single umbilical artery	91179	SCARF2	OMIM:600920
HP:0001195	Single umbilical artery	117581	TWIST2	OMIM:200110
HP:0001195	Single umbilical artery	54870	QRICH1	OMIM:617982
HP:0001195	Single umbilical artery	202018	TAPT1	OMIM:616897
HP:0001195	Single umbilical artery	4893	NRAS	OMIM:613224
HP:0001195	Single umbilical artery	55784	MCTP2	ORPHA:1596
HP:0001195	Single umbilical artery	55690	PACS1	OMIM:615009
HP:0001195	Single umbilical artery	55690	PACS1	ORPHA:329224
HP:0001195	Single umbilical artery	4625	MYH7	OMIM:613426
HP:0001195	Single umbilical artery	2188	FANCF	OMIM:603467
HP:0001195	Single umbilical artery	9897	WASHC5	OMIM:220210
HP:0001195	Single umbilical artery	9897	WASHC5	ORPHA:7
HP:0001195	Single umbilical artery	775	CACNA1C	OMIM:601005
HP:0001195	Single umbilical artery	84992	PIGY	ORPHA:247262
HP:0001195	Single umbilical artery	84720	PIGO	ORPHA:247262
HP:0001195	Single umbilical artery	93210	PGAP3	ORPHA:247262
HP:0001195	Single umbilical artery	284098	PIGW	ORPHA:247262
HP:0001195	Single umbilical artery	27315	PGAP2	ORPHA:247262
HP:0001195	Single umbilical artery	55650	PIGV	ORPHA:247262
HP:0001195	Single umbilical artery	9487	PIGL	ORPHA:247262
HP:0001195	Single umbilical artery	3190	HNRNPK	OMIM:616580
HP:0001195	Single umbilical artery	3339	HSPG2	OMIM:224410
HP:0001195	Single umbilical artery	3339	HSPG2	ORPHA:1865
HP:0001195	Single umbilical artery	84231	TRAF7	OMIM:618164
HP:0001195	Single umbilical artery	10463	SLC30A9	OMIM:617595
HP:0001195	Single umbilical artery	10274	STAG1	OMIM:617635
HP:0001195	Single umbilical artery	55901	THSD1	OMIM:620244
HP:0001195	Single umbilical artery	7473	WNT3	OMIM:273395
HP:0001195	Single umbilical artery	3239	HOXD13	ORPHA:887
HP:0001195	Single umbilical artery	28952	CCDC22	ORPHA:7
HP:0001195	Single umbilical artery	11011	TLK2	OMIM:618050
HP:0001195	Single umbilical artery	1656	DDX6	OMIM:618653
HP:0001195	Single umbilical artery	54903	MKS1	OMIM:249000
HP:0001195	Single umbilical artery	23384	SPECC1L	OMIM:145420
HP:0001195	Single umbilical artery	2783	GNB2	OMIM:619503
HP:0001195	Single umbilical artery	5062	PAK2	OMIM:618458
HP:0001195	Single umbilical artery	79633	FAT4	OMIM:615546
HP:0001196	Short umbilical cord	4000	LMNA	ORPHA:1662
HP:0001196	Short umbilical cord	10269	ZMPSTE24	ORPHA:1662
HP:0001196	Short umbilical cord	10269	ZMPSTE24	OMIM:275210
HP:0001196	Short umbilical cord	57211	ADGRG6	OMIM:616503
HP:0001196	Short umbilical cord	10588	MTHFS	OMIM:618367
HP:0001196	Short umbilical cord	4593	MUSK	OMIM:208150
HP:0001196	Short umbilical cord	26227	PHGDH	OMIM:256520
HP:0001197	Abnormality of prenatal development or birth	84231	TRAF7	OMIM:618164
HP:0001197	Abnormality of prenatal development or birth	1947	EFNB1	ORPHA:1520
HP:0001197	Abnormality of prenatal development or birth	6237	RRAS	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	22808	MRAS	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	6655	SOS2	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	5781	PTPN11	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	5922	RASA2	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	25978	CHMP2B	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	25978	CHMP2B	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	5663	PSEN1	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	5663	PSEN1	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	2896	GRN	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	2896	GRN	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	54664	TMEM106B	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	54664	TMEM106B	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	8878	SQSTM1	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	4137	MAPT	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	4137	MAPT	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	54209	TREM2	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	54209	TREM2	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	7415	VCP	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	7415	VCP	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	55670	PEX26	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5824	PEX19	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	8504	PEX3	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	8799	PEX11B	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	9409	PEX16	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5190	PEX6	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5830	PEX5	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5189	PEX1	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5193	PEX12	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5194	PEX13	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5195	PEX14	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5192	PEX10	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	3911	LAMA5	OMIM:620076
HP:0001197	Abnormality of prenatal development or birth	7490	WT1	OMIM:608978
HP:0001197	Abnormality of prenatal development or birth	91179	SCARF2	OMIM:600920
HP:0001197	Abnormality of prenatal development or birth	54870	QRICH1	OMIM:617982
HP:0001197	Abnormality of prenatal development or birth	55690	PACS1	OMIM:615009
HP:0001197	Abnormality of prenatal development or birth	55690	PACS1	ORPHA:329224
HP:0001197	Abnormality of prenatal development or birth	4625	MYH7	OMIM:613426
HP:0001197	Abnormality of prenatal development or birth	9897	WASHC5	OMIM:220210
HP:0001197	Abnormality of prenatal development or birth	9897	WASHC5	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	775	CACNA1C	OMIM:601005
HP:0001197	Abnormality of prenatal development or birth	10463	SLC30A9	OMIM:617595
HP:0001197	Abnormality of prenatal development or birth	28952	CCDC22	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	11011	TLK2	OMIM:618050
HP:0001197	Abnormality of prenatal development or birth	23384	SPECC1L	OMIM:145420
HP:0001197	Abnormality of prenatal development or birth	5062	PAK2	OMIM:618458
HP:0001197	Abnormality of prenatal development or birth	801	CALM1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3753	KCNE1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3762	KCNJ5	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	805	CALM2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6910	TBX5	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6336	SCN10A	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3757	KCNH2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	9992	KCNE2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	10142	AKAP9	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	9722	NOS1AP	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	10345	TRDN	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6330	SCN4B	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	808	CALM3	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6640	SNTA1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	859	CAV3	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	287	ANK2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	404672	GTF2H5	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	833	CARS1	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2068	ERCC2	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	7737	RNF113A	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	136647	MPLKIP	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	6897	TARS1	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2071	ERCC3	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2961	GTF2E2	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	4359	MPZ	OMIM:618184
HP:0001197	Abnormality of prenatal development or birth	2673	GFPT1	OMIM:608931
HP:0001197	Abnormality of prenatal development or birth	1145	CHRNE	OMIM:608931
HP:0001197	Abnormality of prenatal development or birth	27238	GPKOW	ORPHA:2570
HP:0001197	Abnormality of prenatal development or birth	51126	NAA20	OMIM:619717
HP:0001197	Abnormality of prenatal development or birth	10059	DNM1L	OMIM:614388
HP:0001197	Abnormality of prenatal development or birth	1355	COX15	OMIM:615119
HP:0001197	Abnormality of prenatal development or birth	10102	TSFM	OMIM:610505
HP:0001197	Abnormality of prenatal development or birth	1303	COL12A1	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1291	COL6A1	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1291	COL6A1	OMIM:158810
HP:0001197	Abnormality of prenatal development or birth	1292	COL6A2	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1292	COL6A2	OMIM:158810
HP:0001197	Abnormality of prenatal development or birth	1293	COL6A3	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1293	COL6A3	OMIM:158810
HP:0001197	Abnormality of prenatal development or birth	59341	TRPV4	OMIM:156530
HP:0001197	Abnormality of prenatal development or birth	59341	TRPV4	OMIM:600175
HP:0001197	Abnormality of prenatal development or birth	2073	ERCC5	OMIM:616570
HP:0001197	Abnormality of prenatal development or birth	23114	NFASC	OMIM:618356
HP:0001197	Abnormality of prenatal development or birth	84466	MEGF10	OMIM:614399
HP:0001197	Abnormality of prenatal development or birth	1763	DNA2	ORPHA:352470
HP:0001197	Abnormality of prenatal development or birth	2314	FLII	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	23096	IQSEC2	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	10743	RAI1	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	10522	DEAF1	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	3508	IGHMBP2	OMIM:604320
HP:0001197	Abnormality of prenatal development or birth	284403	WDR62	OMIM:604317
HP:0001197	Abnormality of prenatal development or birth	64324	NSD1	OMIM:117550
HP:0001197	Abnormality of prenatal development or birth	146862	UNC45B	OMIM:619178
HP:0001197	Abnormality of prenatal development or birth	23511	NUP188	OMIM:618804
HP:0001197	Abnormality of prenatal development or birth	1147	CHUK	OMIM:613630
HP:0001197	Abnormality of prenatal development or birth	6606	SMN1	OMIM:253300
HP:0001197	Abnormality of prenatal development or birth	10815	CPLX1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	10815	CPLX1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	54872	PIGG	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	7469	NELFA	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	1487	CTBP1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	1487	CTBP1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	3954	LETM1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	3954	LETM1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	7468	NSD2	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	7468	NSD2	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	51651	PTRH2	ORPHA:456312
HP:0001197	Abnormality of prenatal development or birth	51651	PTRH2	OMIM:616263
HP:0001197	Abnormality of prenatal development or birth	2906	GRIN2D	OMIM:617162
HP:0001197	Abnormality of prenatal development or birth	2906	GRIN2D	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	7317	UBA1	OMIM:301830
HP:0001197	Abnormality of prenatal development or birth	3560	IL2RB	OMIM:618495
HP:0001197	Abnormality of prenatal development or birth	6885	MAP3K7	OMIM:157800
HP:0001197	Abnormality of prenatal development or birth	3737	KCNA2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	1759	DNM1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8120	AP3B2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	523	ATP6V1A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	10991	SLC38A3	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	51343	FZR1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	22906	TRAK1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2566	GABRG2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2561	GABRB2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8831	SYNGAP1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	7532	YWHAG	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	79876	UBA5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	6328	SCN3A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2558	GABRA5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	781	CACNA2D1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	116150	NUS1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	10659	CELF2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	774	CACNA1B	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	1213	CLTC	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	51741	WWOX	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	51412	ACTL6B	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	348980	HCN1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	6506	SLC1A2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8867	SYNJ1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	3745	KCNB1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	284111	SLC13A5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25977	NECAP1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25977	NECAP1	OMIM:615833
HP:0001197	Abnormality of prenatal development or birth	16	AARS1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	22866	CNKSR2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	9568	GABBR2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2555	GABRA2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	773	CACNA1A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	26999	CYFIP2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	4915	NTRK2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25973	PARS2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	23097	CDK19	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	64801	ARV1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	79947	DHDDS	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2257	FGF12	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	478	ATP1A3	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	53834	FGFRL1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	60386	SLC25A19	ORPHA:99742
HP:0001197	Abnormality of prenatal development or birth	1798	DPAGT1	ORPHA:86309
HP:0001197	Abnormality of prenatal development or birth	7874	USP7	ORPHA:500055
HP:0001197	Abnormality of prenatal development or birth	157680	VPS13B	ORPHA:193
HP:0001197	Abnormality of prenatal development or birth	9453	GGPS1	OMIM:619518
HP:0001197	Abnormality of prenatal development or birth	51692	CPSF3	OMIM:619876
HP:0001197	Abnormality of prenatal development or birth	8364	H4C3	OMIM:619758
HP:0001197	Abnormality of prenatal development or birth	163175	LGI4	OMIM:617468
HP:0001197	Abnormality of prenatal development or birth	55164	SHQ1	OMIM:619922
HP:0001197	Abnormality of prenatal development or birth	6519	SLC3A1	ORPHA:163690
HP:0001197	Abnormality of prenatal development or birth	6519	SLC3A1	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	9581	PREPL	ORPHA:163690
HP:0001197	Abnormality of prenatal development or birth	9581	PREPL	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	51244	CCDC174	OMIM:616816
HP:0001197	Abnormality of prenatal development or birth	6663	SOX10	OMIM:609136
HP:0001197	Abnormality of prenatal development or birth	5495	PPM1B	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	79823	CAMKMT	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	729920	CRPPA	OMIM:614643
HP:0001197	Abnormality of prenatal development or birth	23219	FBXO28	OMIM:619777
HP:0001197	Abnormality of prenatal development or birth	5430	POLR2A	OMIM:618603
HP:0001197	Abnormality of prenatal development or birth	58497	PRUNE1	OMIM:617481
HP:0001197	Abnormality of prenatal development or birth	54101	RIPK4	OMIM:263650
HP:0001197	Abnormality of prenatal development or birth	5081	PAX7	OMIM:618578
HP:0001197	Abnormality of prenatal development or birth	389827	MYMK	OMIM:254940
HP:0001197	Abnormality of prenatal development or birth	2137	EXTL3	ORPHA:508533
HP:0001197	Abnormality of prenatal development or birth	83483	PLVAP	OMIM:618183
HP:0001197	Abnormality of prenatal development or birth	8036	SHOC2	OMIM:607721
HP:0001197	Abnormality of prenatal development or birth	3763	KCNJ6	ORPHA:435628
HP:0001197	Abnormality of prenatal development or birth	3763	KCNJ6	OMIM:614098
HP:0001197	Abnormality of prenatal development or birth	199857	ALG14	OMIM:619036
HP:0001197	Abnormality of prenatal development or birth	10046	MAMLD1	ORPHA:456328
HP:0001197	Abnormality of prenatal development or birth	2304	FOXE1	OMIM:241850
HP:0001197	Abnormality of prenatal development or birth	2304	FOXE1	ORPHA:1226
HP:0001197	Abnormality of prenatal development or birth	8506	CNTNAP1	OMIM:618186
HP:0001197	Abnormality of prenatal development or birth	8506	CNTNAP1	OMIM:616286
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	ORPHA:158684
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	OMIM:226730
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	OMIM:612138
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	ORPHA:158684
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	ORPHA:79403
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	OMIM:226730
HP:0001197	Abnormality of prenatal development or birth	55503	TRPV6	OMIM:618188
HP:0001197	Abnormality of prenatal development or birth	6016	RIT1	OMIM:615355
HP:0001197	Abnormality of prenatal development or birth	673	BRAF	OMIM:115150
HP:0001197	Abnormality of prenatal development or birth	5894	RAF1	OMIM:611553
HP:0001197	Abnormality of prenatal development or birth	4897	NRCAM	OMIM:619833
HP:0001197	Abnormality of prenatal development or birth	145173	B3GLCT	ORPHA:709
HP:0001197	Abnormality of prenatal development or birth	145173	B3GLCT	OMIM:261540
HP:0001197	Abnormality of prenatal development or birth	22800	RRAS2	OMIM:618624
HP:0001197	Abnormality of prenatal development or birth	8854	ALDH1A2	OMIM:620025
HP:0001197	Abnormality of prenatal development or birth	3655	ITGA6	ORPHA:79403
HP:0001197	Abnormality of prenatal development or birth	4487	MSX1	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	5818	NECTIN1	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	3664	IRF6	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	OMIM:161800
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	OMIM:256030
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	OMIM:619334
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	OMIM:615731
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	56203	LMOD3	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	56203	LMOD3	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	56203	LMOD3	OMIM:616165
HP:0001197	Abnormality of prenatal development or birth	1073	CFL2	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	51112	TRAPPC12	ORPHA:500144
HP:0001197	Abnormality of prenatal development or birth	249	ALPL	OMIM:241500
HP:0001197	Abnormality of prenatal development or birth	7170	TPM3	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	7170	TPM3	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	7170	TPM3	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	131377	KLHL40	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	131377	KLHL40	OMIM:615348
HP:0001197	Abnormality of prenatal development or birth	1785	DNM2	OMIM:615368
HP:0001197	Abnormality of prenatal development or birth	1785	DNM2	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	1841	DTYMK	OMIM:619847
HP:0001197	Abnormality of prenatal development or birth	22858	CILK1	OMIM:612651
HP:0001197	Abnormality of prenatal development or birth	477	ATP1A2	OMIM:619602
HP:0001197	Abnormality of prenatal development or birth	2132	EXT2	ORPHA:466926
HP:0001197	Abnormality of prenatal development or birth	6662	SOX9	OMIM:114290
HP:0001197	Abnormality of prenatal development or birth	9200	HACD1	OMIM:619967
HP:0001197	Abnormality of prenatal development or birth	9200	HACD1	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	9723	SEMA3E	ORPHA:138
HP:0001197	Abnormality of prenatal development or birth	7125	TNNC2	OMIM:620161
HP:0001197	Abnormality of prenatal development or birth	535	ATP6V0A1	OMIM:619971
HP:0001197	Abnormality of prenatal development or birth	1272	CNTN1	OMIM:612540
HP:0001197	Abnormality of prenatal development or birth	23522	KAT6B	OMIM:606170
HP:0001197	Abnormality of prenatal development or birth	23522	KAT6B	ORPHA:3047
HP:0001197	Abnormality of prenatal development or birth	10606	PAICS	OMIM:619859
HP:0001197	Abnormality of prenatal development or birth	55107	ANO1	OMIM:620045
HP:0001197	Abnormality of prenatal development or birth	79087	ALG12	OMIM:607143
HP:0001197	Abnormality of prenatal development or birth	79087	ALG12	ORPHA:79324
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	ORPHA:166063
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	OMIM:277470
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	OMIM:225753
HP:0001197	Abnormality of prenatal development or birth	4524	MTHFR	ORPHA:563612
HP:0001197	Abnormality of prenatal development or birth	57216	VANGL2	ORPHA:563612
HP:0001197	Abnormality of prenatal development or birth	57190	SELENON	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	4633	MYL2	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	3679	ITGA7	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	51776	MAP3K20	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	4632	MYL1	OMIM:618414
HP:0001197	Abnormality of prenatal development or birth	200734	SPRED2	OMIM:619745
HP:0001197	Abnormality of prenatal development or birth	25942	SIN3A	OMIM:613406
HP:0001197	Abnormality of prenatal development or birth	3265	HRAS	OMIM:218040
HP:0001197	Abnormality of prenatal development or birth	3265	HRAS	ORPHA:3071
HP:0001197	Abnormality of prenatal development or birth	129563	DIS3L2	OMIM:267000
HP:0001197	Abnormality of prenatal development or birth	1188	CLCNKB	ORPHA:89938
HP:0001197	Abnormality of prenatal development or birth	1188	CLCNKB	OMIM:613090
HP:0001197	Abnormality of prenatal development or birth	1187	CLCNKA	ORPHA:89938
HP:0001197	Abnormality of prenatal development or birth	1187	CLCNKA	OMIM:613090
HP:0001197	Abnormality of prenatal development or birth	1186	CLCN7	OMIM:618541
HP:0001197	Abnormality of prenatal development or birth	57498	KIDINS220	ORPHA:521390
HP:0001197	Abnormality of prenatal development or birth	57498	KIDINS220	OMIM:617296
HP:0001197	Abnormality of prenatal development or birth	56006	SMG9	OMIM:616920
HP:0001197	Abnormality of prenatal development or birth	9091	PIGQ	OMIM:618548
HP:0001197	Abnormality of prenatal development or birth	6134	RPL10	ORPHA:459070
HP:0001197	Abnormality of prenatal development or birth	6134	RPL10	OMIM:300998
HP:0001197	Abnormality of prenatal development or birth	23345	SYNE1	ORPHA:319332
HP:0001197	Abnormality of prenatal development or birth	54499	TMCO1	OMIM:213980
HP:0001197	Abnormality of prenatal development or birth	54499	TMCO1	ORPHA:1394
HP:0001197	Abnormality of prenatal development or birth	157570	ESCO2	ORPHA:3103
HP:0001197	Abnormality of prenatal development or birth	157570	ESCO2	OMIM:268300
HP:0001197	Abnormality of prenatal development or birth	51611	DPH5	OMIM:620070
HP:0001197	Abnormality of prenatal development or birth	554	AVPR2	ORPHA:223
HP:0001197	Abnormality of prenatal development or birth	359	AQP2	ORPHA:223
HP:0001197	Abnormality of prenatal development or birth	5605	MAP2K2	OMIM:615280
HP:0001197	Abnormality of prenatal development or birth	59336	PRDM13	OMIM:619761
HP:0001197	Abnormality of prenatal development or birth	3845	KRAS	ORPHA:3339
HP:0001197	Abnormality of prenatal development or birth	3845	KRAS	OMIM:609942
HP:0001197	Abnormality of prenatal development or birth	1811	SLC26A3	OMIM:214700
HP:0001197	Abnormality of prenatal development or birth	25802	LMOD1	ORPHA:2241
HP:0001197	Abnormality of prenatal development or birth	25802	LMOD1	OMIM:619362
HP:0001197	Abnormality of prenatal development or birth	7841	MOGS	ORPHA:79330
HP:0001197	Abnormality of prenatal development or birth	2065	ERBB3	OMIM:607598
HP:0001197	Abnormality of prenatal development or birth	2239	GPC4	ORPHA:373
HP:0001197	Abnormality of prenatal development or birth	2239	GPC4	OMIM:312870
HP:0001197	Abnormality of prenatal development or birth	2719	GPC3	ORPHA:373
HP:0001197	Abnormality of prenatal development or birth	2719	GPC3	OMIM:312870
HP:0001197	Abnormality of prenatal development or birth	64321	SOX17	OMIM:613674
HP:0001197	Abnormality of prenatal development or birth	84665	MYPN	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	390594	KBTBD13	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	5048	PAFAH1B1	ORPHA:95232
HP:0001197	Abnormality of prenatal development or birth	5048	PAFAH1B1	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	10682	EBP	OMIM:302960
HP:0001197	Abnormality of prenatal development or birth	6567	SLC16A2	ORPHA:59
HP:0001197	Abnormality of prenatal development or birth	171023	ASXL1	OMIM:605039
HP:0001197	Abnormality of prenatal development or birth	81570	CLPB	OMIM:616271
HP:0001197	Abnormality of prenatal development or birth	91137	SLC25A46	OMIM:619303
HP:0001197	Abnormality of prenatal development or birth	8621	CDK13	OMIM:617360
HP:0001197	Abnormality of prenatal development or birth	867	CBL	OMIM:613563
HP:0001197	Abnormality of prenatal development or birth	29968	PSAT1	OMIM:616038
HP:0001197	Abnormality of prenatal development or birth	1144	CHRND	OMIM:253290
HP:0001197	Abnormality of prenatal development or birth	1134	CHRNA1	OMIM:253290
HP:0001197	Abnormality of prenatal development or birth	6654	SOS1	OMIM:610733
HP:0001197	Abnormality of prenatal development or birth	4054	LTBP3	OMIM:617809
HP:0001197	Abnormality of prenatal development or birth	9949	AMMECR1	OMIM:300990
HP:0001197	Abnormality of prenatal development or birth	55906	ZC4H2	OMIM:301041
HP:0001197	Abnormality of prenatal development or birth	112	ADCY6	OMIM:616287
HP:0001197	Abnormality of prenatal development or birth	5396	PRRX1	OMIM:202650
HP:0001197	Abnormality of prenatal development or birth	5396	PRRX1	ORPHA:990
HP:0001197	Abnormality of prenatal development or birth	92335	STRADA	ORPHA:500533
HP:0001197	Abnormality of prenatal development or birth	92335	STRADA	OMIM:611087
HP:0001197	Abnormality of prenatal development or birth	6334	SCN8A	OMIM:614306
HP:0001197	Abnormality of prenatal development or birth	8818	DPM2	ORPHA:329178
HP:0001197	Abnormality of prenatal development or birth	7473	WNT3	ORPHA:3301
HP:0001197	Abnormality of prenatal development or birth	340419	RSPO2	ORPHA:3301
HP:0001197	Abnormality of prenatal development or birth	64419	MTMR14	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	4618	MYF6	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	55593	OTUD5	OMIM:301056
HP:0001197	Abnormality of prenatal development or birth	6647	SOD1	OMIM:618598
HP:0001197	Abnormality of prenatal development or birth	113179	ADAT3	ORPHA:363528
HP:0001197	Abnormality of prenatal development or birth	4893	NRAS	OMIM:613224
HP:0001197	Abnormality of prenatal development or birth	2033	EP300	ORPHA:353284
HP:0001197	Abnormality of prenatal development or birth	2033	EP300	OMIM:180849
HP:0001197	Abnormality of prenatal development or birth	55033	FKBP14	OMIM:614557
HP:0001197	Abnormality of prenatal development or birth	1760	DMPK	OMIM:160900
HP:0001197	Abnormality of prenatal development or birth	1760	DMPK	ORPHA:589821
HP:0001197	Abnormality of prenatal development or birth	6904	TBCD	ORPHA:496641
HP:0001197	Abnormality of prenatal development or birth	10916	MAGED2	OMIM:300971
HP:0001197	Abnormality of prenatal development or birth	2530	FUT8	OMIM:618005
HP:0001197	Abnormality of prenatal development or birth	1956	EGFR	OMIM:616069
HP:0001197	Abnormality of prenatal development or birth	54496	PRMT7	OMIM:617157
HP:0001197	Abnormality of prenatal development or birth	7019	TFAM	OMIM:617156
HP:0001197	Abnormality of prenatal development or birth	6550	SLC9A3	OMIM:616868
HP:0001197	Abnormality of prenatal development or birth	80746	TSEN2	OMIM:612389
HP:0001197	Abnormality of prenatal development or birth	51008	ASCC1	OMIM:616867
HP:0001197	Abnormality of prenatal development or birth	2917	GRM7	OMIM:618922
HP:0001197	Abnormality of prenatal development or birth	1312	COMT	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	221037	JMJD1C	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	2812	GP1BB	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	6239	RREB1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	6899	TBX1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	7290	HIRA	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	9632	SEC24C	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	7353	UFD1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	421	ARVCF	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	8604	SLC25A12	OMIM:612949
HP:0001197	Abnormality of prenatal development or birth	7703	PCGF2	OMIM:618371
HP:0001197	Abnormality of prenatal development or birth	6557	SLC12A1	OMIM:601678
HP:0001197	Abnormality of prenatal development or birth	3758	KCNJ1	OMIM:241200
HP:0001197	Abnormality of prenatal development or birth	4613	MYCN	OMIM:164280
HP:0001197	Abnormality of prenatal development or birth	208	AKT2	OMIM:240900
HP:0001197	Abnormality of prenatal development or birth	124997	WDR81	OMIM:617967
HP:0001197	Abnormality of prenatal development or birth	7846	TUBA1A	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4654	MYOD1	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4654	MYOD1	OMIM:618975
HP:0001197	Abnormality of prenatal development or birth	5913	RAPSN	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	6572	SLC18A3	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	6572	SLC18A3	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	285489	DOK7	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	5015	OTX2	ORPHA:990
HP:0001197	Abnormality of prenatal development or birth	80347	COASY	OMIM:618266
HP:0001197	Abnormality of prenatal development or birth	6628	SNRPB	OMIM:117650
HP:0001197	Abnormality of prenatal development or birth	57003	CCDC47	OMIM:618268
HP:0001197	Abnormality of prenatal development or birth	1387	CREBBP	OMIM:180849
HP:0001197	Abnormality of prenatal development or birth	1387	CREBBP	ORPHA:353277
HP:0001197	Abnormality of prenatal development or birth	1861	TOR1A	OMIM:618947
HP:0001197	Abnormality of prenatal development or birth	8405	SPOP	OMIM:618829
HP:0001197	Abnormality of prenatal development or birth	9935	MAFB	ORPHA:2774
HP:0001197	Abnormality of prenatal development or birth	10653	SPINT2	OMIM:270420
HP:0001197	Abnormality of prenatal development or birth	1457	CSNK2A1	OMIM:617062
HP:0001197	Abnormality of prenatal development or birth	2077	ERF	OMIM:617180
HP:0001197	Abnormality of prenatal development or birth	8567	MADD	OMIM:619004
HP:0001197	Abnormality of prenatal development or birth	55640	FLVCR2	OMIM:225790
HP:0001197	Abnormality of prenatal development or birth	10293	TRAIP	OMIM:616777
HP:0001197	Abnormality of prenatal development or birth	60482	SLC5A7	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	4649	MYO9A	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	1305	COL13A1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	1103	CHAT	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6576	SLC25A1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6843	VAMP1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	375790	AGRN	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	127833	SYT2	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6616	SNAP25	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	5500	PPP1CB	OMIM:617506
HP:0001197	Abnormality of prenatal development or birth	7291	TWIST1	OMIM:617746
HP:0001197	Abnormality of prenatal development or birth	3090	HIC1	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	7531	YWHAE	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	342035	GLDN	OMIM:617194
HP:0001197	Abnormality of prenatal development or birth	200205	IBA57	OMIM:615330
HP:0001197	Abnormality of prenatal development or birth	51780	KDM3B	OMIM:618846
HP:0001197	Abnormality of prenatal development or birth	55005	RMND1	OMIM:614922
HP:0001197	Abnormality of prenatal development or birth	10225	CD96	ORPHA:1308
HP:0001197	Abnormality of prenatal development or birth	1302	COL11A2	ORPHA:1427
HP:0001197	Abnormality of prenatal development or birth	219844	HYLS1	OMIM:236680
HP:0001197	Abnormality of prenatal development or birth	219844	HYLS1	ORPHA:2189
HP:0001197	Abnormality of prenatal development or birth	3239	HOXD13	ORPHA:887
HP:0001197	Abnormality of prenatal development or birth	23299	BICD2	OMIM:618291
HP:0001197	Abnormality of prenatal development or birth	51626	DYNC2LI1	OMIM:617088
HP:0001197	Abnormality of prenatal development or birth	115286	SLC25A26	OMIM:616794
HP:0001197	Abnormality of prenatal development or birth	221692	PHACTR1	OMIM:618298
HP:0001197	Abnormality of prenatal development or birth	374654	KIF7	ORPHA:2189
HP:0001197	Abnormality of prenatal development or birth	2737	GLI3	ORPHA:672
HP:0001197	Abnormality of prenatal development or birth	3651	PDX1	OMIM:260370
HP:0001197	Abnormality of prenatal development or birth	3376	IARS1	OMIM:617093
HP:0001197	Abnormality of prenatal development or birth	3376	IARS1	ORPHA:541423
HP:0001197	Abnormality of prenatal development or birth	5076	PAX2	ORPHA:97362
HP:0001197	Abnormality of prenatal development or birth	5087	PBX1	ORPHA:97362
HP:0001197	Abnormality of prenatal development or birth	5087	PBX1	OMIM:617641
HP:0001197	Abnormality of prenatal development or birth	4621	MYH3	ORPHA:2053
HP:0001197	Abnormality of prenatal development or birth	4621	MYH3	OMIM:193700
HP:0001197	Abnormality of prenatal development or birth	259232	NALCN	ORPHA:2053
HP:0001197	Abnormality of prenatal development or birth	29925	GMPPB	OMIM:615350
HP:0001197	Abnormality of prenatal development or birth	10466	COG5	ORPHA:263487
HP:0001197	Abnormality of prenatal development or birth	1832	DSP	ORPHA:158687
HP:0001197	Abnormality of prenatal development or birth	3728	JUP	ORPHA:158687
HP:0001197	Abnormality of prenatal development or birth	4638	MYLK	OMIM:249210
HP:0001197	Abnormality of prenatal development or birth	1859	DYRK1A	ORPHA:268261
HP:0001197	Abnormality of prenatal development or birth	1859	DYRK1A	ORPHA:464311
HP:0001197	Abnormality of prenatal development or birth	60529	ALX4	OMIM:613451
HP:0001197	Abnormality of prenatal development or birth	60529	ALX4	ORPHA:228390
HP:0001197	Abnormality of prenatal development or birth	72	ACTG2	OMIM:619431
HP:0001197	Abnormality of prenatal development or birth	7167	TPI1	OMIM:615512
HP:0001197	Abnormality of prenatal development or birth	100151683	RNU4ATAC	OMIM:210710
HP:0001197	Abnormality of prenatal development or birth	23334	SZT2	OMIM:615476
HP:0001197	Abnormality of prenatal development or birth	25821	MTO1	OMIM:614702
HP:0001197	Abnormality of prenatal development or birth	84942	WDR73	OMIM:251300
HP:0001197	Abnormality of prenatal development or birth	1131	CHRM3	ORPHA:2970
HP:0001197	Abnormality of prenatal development or birth	1131	CHRM3	OMIM:100100
HP:0001197	Abnormality of prenatal development or birth	183	AGT	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	5972	REN	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	185	AGTR1	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	1636	ACE	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	283120	H19	ORPHA:231144
HP:0001197	Abnormality of prenatal development or birth	54968	TMEM70	ORPHA:1194
HP:0001197	Abnormality of prenatal development or birth	54968	TMEM70	OMIM:614052
HP:0001197	Abnormality of prenatal development or birth	9871	SEC24D	OMIM:616294
HP:0001197	Abnormality of prenatal development or birth	3313	HSPA9	OMIM:616854
HP:0001197	Abnormality of prenatal development or birth	10229	COQ7	OMIM:616733
HP:0001197	Abnormality of prenatal development or birth	341640	FREM2	OMIM:617666
HP:0001197	Abnormality of prenatal development or birth	30008	EFEMP2	OMIM:614437
HP:0001197	Abnormality of prenatal development or birth	55152	DALRD3	OMIM:618910
HP:0001197	Abnormality of prenatal development or birth	5979	RET	ORPHA:99803
HP:0001197	Abnormality of prenatal development or birth	5979	RET	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	429	ASCL1	ORPHA:99803
HP:0001197	Abnormality of prenatal development or birth	8929	PHOX2B	ORPHA:99803
HP:0001197	Abnormality of prenatal development or birth	79158	GNPTAB	ORPHA:576
HP:0001197	Abnormality of prenatal development or birth	84987	COX14	OMIM:619053
HP:0001197	Abnormality of prenatal development or birth	84720	PIGO	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	93210	PGAP3	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	284098	PIGW	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	27315	PGAP2	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	55650	PIGV	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	9487	PIGL	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	9739	SETD1A	OMIM:619056
HP:0001197	Abnormality of prenatal development or birth	8260	NAA10	OMIM:300855
HP:0001197	Abnormality of prenatal development or birth	274	BIN1	OMIM:255200
HP:0001197	Abnormality of prenatal development or birth	708	C1QBP	OMIM:617713
HP:0001197	Abnormality of prenatal development or birth	9325	TRIP4	OMIM:616866
HP:0001197	Abnormality of prenatal development or birth	284086	NEK8	OMIM:615415
HP:0001197	Abnormality of prenatal development or birth	672	BRCA1	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	10459	MAD2L2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	7516	XRCC2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	29089	UBE2T	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	675	BRCA2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55120	FANCL	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2177	FANCD2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2175	FANCA	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2176	FANCC	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2178	FANCE	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2189	FANCG	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	5888	RAD51	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	5889	RAD51C	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55159	RFWD3	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	83990	BRIP1	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	57697	FANCM	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	79728	PALB2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	84464	SLX4	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2072	ERCC4	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55215	FANCI	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	3913	LAMB2	OMIM:609049
HP:0001197	Abnormality of prenatal development or birth	22827	PUF60	ORPHA:508488
HP:0001197	Abnormality of prenatal development or birth	84314	TMEM107	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	26123	TCTN3	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	26123	TCTN3	ORPHA:2753
HP:0001197	Abnormality of prenatal development or birth	79867	TCTN2	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	80776	B9D2	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79600	TCTN1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	57096	RPGRIP1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79848	CSPP1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	80184	CEP290	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	51259	TMEM216	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	57545	CC2D2A	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79583	TMEM231	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79583	TMEM231	OMIM:615397
HP:0001197	Abnormality of prenatal development or birth	91147	TMEM67	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	23322	RPGRIP1L	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	65062	TMEM237	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	6045	RNF2	OMIM:619460
HP:0001197	Abnormality of prenatal development or birth	27031	NPHP3	OMIM:267010
HP:0001197	Abnormality of prenatal development or birth	27031	NPHP3	OMIM:208540
HP:0001197	Abnormality of prenatal development or birth	27031	NPHP3	ORPHA:3032
HP:0001197	Abnormality of prenatal development or birth	10087	CERT1	OMIM:616351
HP:0001197	Abnormality of prenatal development or birth	26276	VPS33B	OMIM:208085
HP:0001197	Abnormality of prenatal development or birth	1656	DDX6	OMIM:618653
HP:0001197	Abnormality of prenatal development or birth	3977	LIFR	OMIM:601559
HP:0001197	Abnormality of prenatal development or birth	3977	LIFR	ORPHA:3206
HP:0001197	Abnormality of prenatal development or birth	84300	UQCC2	OMIM:615824
HP:0001197	Abnormality of prenatal development or birth	29980	DONSON	OMIM:617604
HP:0001197	Abnormality of prenatal development or birth	29980	DONSON	OMIM:251230
HP:0001197	Abnormality of prenatal development or birth	55644	OSGEP	OMIM:617729
HP:0001197	Abnormality of prenatal development or birth	57572	DOCK6	OMIM:614219
HP:0001197	Abnormality of prenatal development or birth	2200	FBN1	OMIM:616914
HP:0001197	Abnormality of prenatal development or birth	27130	INVS	OMIM:602088
HP:0001197	Abnormality of prenatal development or birth	760	CA2	ORPHA:2785
HP:0001197	Abnormality of prenatal development or birth	9653	HS2ST1	OMIM:619194
HP:0001197	Abnormality of prenatal development or birth	253738	EBF3	OMIM:617330
HP:0001197	Abnormality of prenatal development or birth	3975	LHX1	ORPHA:261265
HP:0001197	Abnormality of prenatal development or birth	6928	HNF1B	ORPHA:261265
HP:0001197	Abnormality of prenatal development or birth	5977	DPF2	OMIM:618027
HP:0001197	Abnormality of prenatal development or birth	4629	MYH11	OMIM:619351
HP:0001197	Abnormality of prenatal development or birth	5314	PKHD1	OMIM:263200
HP:0001197	Abnormality of prenatal development or birth	5314	PKHD1	ORPHA:731
HP:0001197	Abnormality of prenatal development or birth	213	ALB	OMIM:616000
HP:0001197	Abnormality of prenatal development or birth	213	ALB	ORPHA:86816
HP:0001197	Abnormality of prenatal development or birth	29957	SLC25A24	OMIM:612289
HP:0001197	Abnormality of prenatal development or birth	2627	GATA6	ORPHA:2255
HP:0001197	Abnormality of prenatal development or birth	8087	FXR1	OMIM:618822
HP:0001197	Abnormality of prenatal development or birth	8087	FXR1	OMIM:618823
HP:0001197	Abnormality of prenatal development or birth	8516	ITGA8	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	8516	ITGA8	OMIM:191830
HP:0001197	Abnormality of prenatal development or birth	26281	FGF20	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	2674	GFRA1	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	7484	WNT9B	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	80000	GREB1L	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	10056	FARSB	OMIM:613658
HP:0001197	Abnormality of prenatal development or birth	55165	CEP55	OMIM:236500
HP:0001197	Abnormality of prenatal development or birth	51360	MBTPS2	OMIM:308205
HP:0001197	Abnormality of prenatal development or birth	3636	INPPL1	OMIM:258480
HP:0001197	Abnormality of prenatal development or birth	9928	KIF14	OMIM:616258
HP:0001197	Abnormality of prenatal development or birth	64135	IFIH1	OMIM:615846
HP:0001197	Abnormality of prenatal development or birth	118924	FRA10AC1	OMIM:620113
HP:0001197	Abnormality of prenatal development or birth	199221	DZIP1L	ORPHA:731
HP:0001197	Abnormality of prenatal development or birth	139285	AMER1	OMIM:300373
HP:0001197	Abnormality of prenatal development or birth	1376	CPT2	OMIM:608836
HP:0001197	Abnormality of prenatal development or birth	126792	B3GALT6	ORPHA:536467
HP:0001197	Abnormality of prenatal development or birth	57107	PDSS2	ORPHA:255249
HP:0001197	Abnormality of prenatal development or birth	27235	COQ2	ORPHA:255249
HP:0001197	Abnormality of prenatal development or birth	7355	SLC35A2	OMIM:300896
HP:0001197	Abnormality of prenatal development or birth	8218	CLTCL1	ORPHA:453510
HP:0001197	Abnormality of prenatal development or birth	2193	FARSA	OMIM:619013
HP:0001197	Abnormality of prenatal development or birth	119559	SFXN4	OMIM:615578
HP:0001197	Abnormality of prenatal development or birth	55681	SCYL2	ORPHA:1143
HP:0001197	Abnormality of prenatal development or birth	84570	COL25A1	ORPHA:1143
HP:0001197	Abnormality of prenatal development or birth	57222	ERGIC1	ORPHA:1143
HP:0001197	Abnormality of prenatal development or birth	10516	FBLN5	OMIM:219100
HP:0001197	Abnormality of prenatal development or birth	529	ATP6V1E1	OMIM:617402
HP:0001197	Abnormality of prenatal development or birth	7319	UBE2A	ORPHA:163956
HP:0001197	Abnormality of prenatal development or birth	4713	NDUFB7	OMIM:620135
HP:0001197	Abnormality of prenatal development or birth	6005	RHAG	ORPHA:71275
HP:0001197	Abnormality of prenatal development or birth	6006	RHCE	ORPHA:71275
HP:0001197	Abnormality of prenatal development or birth	4693	NDP	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	4041	LRP5	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	8322	FZD4	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	10262	SF3B4	OMIM:154400
HP:0001197	Abnormality of prenatal development or birth	23019	CNOT1	OMIM:619033
HP:0001197	Abnormality of prenatal development or birth	55627	SMPD4	OMIM:618622
HP:0001197	Abnormality of prenatal development or birth	613	BCR	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	1399	CRKL	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	5594	MAPK1	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	2260	FGFR1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	28514	DLL1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2253	FGF8	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	6496	SIX3	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	7050	TGIF1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	4838	NODAL	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	6469	SHH	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	51684	SUFU	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	7546	ZIC2	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2619	GAS1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	84976	DISP1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2736	GLI2	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	8928	FOXH1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	5727	PTCH1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	50937	CDON	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	10352	WARS2	OMIM:619738
HP:0001197	Abnormality of prenatal development or birth	6773	STAT2	OMIM:618886
HP:0001197	Abnormality of prenatal development or birth	6499	SKIC2	OMIM:614602
HP:0001197	Abnormality of prenatal development or birth	5604	MAP2K1	ORPHA:1340
HP:0001197	Abnormality of prenatal development or birth	7253	TSHR	OMIM:609152
HP:0001197	Abnormality of prenatal development or birth	114548	NLRP3	ORPHA:1451
HP:0001197	Abnormality of prenatal development or birth	2313	FLI1	ORPHA:2308
HP:0001197	Abnormality of prenatal development or birth	2584	GALK1	ORPHA:79237
HP:0001197	Abnormality of prenatal development or birth	26154	ABCA12	OMIM:242500
HP:0001197	Abnormality of prenatal development or birth	57187	THOC2	OMIM:300957
HP:0001197	Abnormality of prenatal development or birth	9255	AIMP1	OMIM:260600
HP:0001197	Abnormality of prenatal development or birth	3043	HBB	ORPHA:2133
HP:0001197	Abnormality of prenatal development or birth	9276	COPB2	OMIM:619884
HP:0001197	Abnormality of prenatal development or birth	253959	RALGAPA1	OMIM:618797
HP:0001197	Abnormality of prenatal development or birth	2232	FDXR	ORPHA:543470
HP:0001197	Abnormality of prenatal development or birth	50485	SMARCAL1	ORPHA:1830
HP:0001197	Abnormality of prenatal development or birth	2683	B4GALT1	ORPHA:79332
HP:0001197	Abnormality of prenatal development or birth	3516	RBPJ	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	4851	NOTCH1	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	57514	ARHGAP31	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	285203	EOGT	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	54567	DLL4	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	197258	FCSK	OMIM:618324
HP:0001197	Abnormality of prenatal development or birth	8565	YARS1	OMIM:619418
HP:0001197	Abnormality of prenatal development or birth	51294	PCDH12	OMIM:251280
HP:0001197	Abnormality of prenatal development or birth	51002	TPRKB	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	57122	NUP107	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	10785	WDR4	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	55746	NUP133	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	112858	TP53RK	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	8270	LAGE3	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	54938	SARS2	OMIM:613845
HP:0001197	Abnormality of prenatal development or birth	6440	SFTPC	ORPHA:70587
HP:0001197	Abnormality of prenatal development or birth	21	ABCA3	ORPHA:70587
HP:0001197	Abnormality of prenatal development or birth	6439	SFTPB	ORPHA:70587
HP:0001197	Abnormality of prenatal development or birth	64858	DCLRE1B	OMIM:620133
HP:0001197	Abnormality of prenatal development or birth	95	ACY1	OMIM:609924
HP:0001197	Abnormality of prenatal development or birth	51422	PRKAG2	OMIM:261740
HP:0001197	Abnormality of prenatal development or birth	55870	ASH1L	OMIM:617796
HP:0001197	Abnormality of prenatal development or birth	4998	ORC1	OMIM:224690
HP:0001197	Abnormality of prenatal development or birth	9469	CHST3	OMIM:143095
HP:0001197	Abnormality of prenatal development or birth	55699	IARS2	OMIM:616007
HP:0001197	Abnormality of prenatal development or birth	8425	LTBP4	OMIM:613177
HP:0001197	Abnormality of prenatal development or birth	10491	CRTAP	OMIM:610682
HP:0001197	Abnormality of prenatal development or birth	25930	PTPN23	OMIM:618890
HP:0001197	Abnormality of prenatal development or birth	667	DST	OMIM:614653
HP:0001197	Abnormality of prenatal development or birth	7407	VARS1	OMIM:617802
HP:0001197	Abnormality of prenatal development or birth	23729	SHPK	ORPHA:440713
HP:0001197	Abnormality of prenatal development or birth	3939	LDHA	ORPHA:284426
HP:0001197	Abnormality of prenatal development or birth	9968	MED12	OMIM:301068
HP:0001197	Abnormality of prenatal development or birth	1289	COL5A1	ORPHA:287
HP:0001197	Abnormality of prenatal development or birth	1290	COL5A2	ORPHA:287
HP:0001197	Abnormality of prenatal development or birth	9509	ADAMTS2	OMIM:225410
HP:0001197	Abnormality of prenatal development or birth	221496	LEMD2	OMIM:619322
HP:0001197	Abnormality of prenatal development or birth	5351	PLOD1	OMIM:225400
HP:0001197	Abnormality of prenatal development or birth	50619	DEF6	OMIM:619573
HP:0001197	Abnormality of prenatal development or birth	23545	ATP6V0A2	ORPHA:2834
HP:0001197	Abnormality of prenatal development or birth	23545	ATP6V0A2	OMIM:278250
HP:0001197	Abnormality of prenatal development or birth	23394	ADNP	OMIM:615873
HP:0001197	Abnormality of prenatal development or birth	89970	RSPRY1	OMIM:616723
HP:0001197	Abnormality of prenatal development or birth	871	SERPINH1	OMIM:610504
HP:0001197	Abnormality of prenatal development or birth	8241	RBM10	OMIM:311900
HP:0001197	Abnormality of prenatal development or birth	5337	PLD1	OMIM:212093
HP:0001197	Abnormality of prenatal development or birth	355	FAS	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	356	FASLG	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	5580	PRKCD	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	843	CASP10	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	10125	RASGRP1	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	1836	SLC26A2	OMIM:600972
HP:0001197	Abnormality of prenatal development or birth	1836	SLC26A2	ORPHA:93298
HP:0001197	Abnormality of prenatal development or birth	10112	KIF20A	OMIM:619433
HP:0001197	Abnormality of prenatal development or birth	4750	NEK1	OMIM:263520
HP:0001197	Abnormality of prenatal development or birth	2632	GBE1	OMIM:232500
HP:0001197	Abnormality of prenatal development or birth	9508	ADAMTS3	ORPHA:2136
HP:0001197	Abnormality of prenatal development or birth	79633	FAT4	ORPHA:2136
HP:0001197	Abnormality of prenatal development or birth	57539	WDR35	OMIM:613610
HP:0001197	Abnormality of prenatal development or birth	57539	WDR35	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	57539	WDR35	OMIM:614091
HP:0001197	Abnormality of prenatal development or birth	4758	NEU1	OMIM:256550
HP:0001197	Abnormality of prenatal development or birth	2990	GUSB	ORPHA:584
HP:0001197	Abnormality of prenatal development or birth	2990	GUSB	OMIM:253220
HP:0001197	Abnormality of prenatal development or birth	79796	ALG9	ORPHA:79328
HP:0001197	Abnormality of prenatal development or birth	4247	MGAT2	ORPHA:79329
HP:0001197	Abnormality of prenatal development or birth	6888	TALDO1	ORPHA:101028
HP:0001197	Abnormality of prenatal development or birth	55112	DYNC2I1	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	57560	IFT80	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	79659	DYNC2H1	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	89891	DYNC2I2	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	91754	NEK9	OMIM:617022
HP:0001197	Abnormality of prenatal development or birth	202018	TAPT1	OMIM:616897
HP:0001197	Abnormality of prenatal development or birth	3030	HADHA	OMIM:609015
HP:0001197	Abnormality of prenatal development or birth	2122	MECOM	OMIM:616738
HP:0001197	Abnormality of prenatal development or birth	1146	CHRNG	OMIM:265000
HP:0001197	Abnormality of prenatal development or birth	427	ASAH1	ORPHA:333
HP:0001197	Abnormality of prenatal development or birth	26503	SLC17A5	OMIM:269920
HP:0001197	Abnormality of prenatal development or birth	9786	KIAA0586	OMIM:616546
HP:0001197	Abnormality of prenatal development or birth	10661	KLF1	OMIM:613673
HP:0001197	Abnormality of prenatal development or birth	6261	RYR1	OMIM:255320
HP:0001197	Abnormality of prenatal development or birth	7476	WNT7A	ORPHA:2879
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	ORPHA:85166
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	OMIM:200610
HP:0001197	Abnormality of prenatal development or birth	25974	MMACHC	ORPHA:79282
HP:0001197	Abnormality of prenatal development or birth	2317	FLNB	ORPHA:1263
HP:0001197	Abnormality of prenatal development or birth	55109	AGGF1	ORPHA:90308
HP:0001197	Abnormality of prenatal development or birth	3339	HSPG2	ORPHA:1865
HP:0001197	Abnormality of prenatal development or birth	79053	ALG8	ORPHA:79325
HP:0001197	Abnormality of prenatal development or birth	2035	EPB41	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	2995	GYPC	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	6710	SPTB	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	6708	SPTA1	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	191	AHCY	ORPHA:88618
HP:0001197	Abnormality of prenatal development or birth	7809	BSND	OMIM:602522
HP:0001197	Abnormality of prenatal development or birth	1301	COL11A1	OMIM:228520
HP:0001197	Abnormality of prenatal development or birth	4905	NSF	OMIM:619340
HP:0001197	Abnormality of prenatal development or birth	146059	CDAN1	OMIM:224120
HP:0001197	Abnormality of prenatal development or birth	4591	TRIM37	OMIM:253250
HP:0001197	Abnormality of prenatal development or birth	3039	HBA1	ORPHA:163596
HP:0001197	Abnormality of prenatal development or birth	3040	HBA2	ORPHA:163596
HP:0001197	Abnormality of prenatal development or birth	54345	SOX18	OMIM:137940
HP:0001197	Abnormality of prenatal development or birth	54345	SOX18	OMIM:607823
HP:0001197	Abnormality of prenatal development or birth	2294	FOXF1	OMIM:265380
HP:0001197	Abnormality of prenatal development or birth	55388	MCM10	OMIM:619313
HP:0001197	Abnormality of prenatal development or birth	5530	PPP3CA	OMIM:618265
HP:0001197	Abnormality of prenatal development or birth	9780	PIEZO1	OMIM:616843
HP:0001197	Abnormality of prenatal development or birth	1277	COL1A1	OMIM:166210
HP:0001197	Abnormality of prenatal development or birth	1278	COL1A2	OMIM:166210
HP:0001197	Abnormality of prenatal development or birth	147372	CCBE1	OMIM:235510
HP:0001197	Abnormality of prenatal development or birth	7389	UROD	ORPHA:95159
HP:0001197	Abnormality of prenatal development or birth	6331	SCN5A	OMIM:603830
HP:0001197	Abnormality of prenatal development or birth	5313	PKLR	OMIM:266200
HP:0001197	Abnormality of prenatal development or birth	6138	RPL15	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6229	RPS24	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6125	RPL5	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6204	RPS10	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6224	RPS20	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6165	RPL35A	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6223	RPS19	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6232	RPS27	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6231	RPS26	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	11224	RPL35	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6160	RPL31	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6218	RPS17	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6201	RPS7	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6155	RPL27	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6154	RPL26	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6210	RPS15A	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	90121	TSR2	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6141	RPL18	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6235	RPS29	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6234	RPS28	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	51816	ADA2	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	57538	ALPK3	OMIM:618052
HP:0001197	Abnormality of prenatal development or birth	10203	CALCRL	OMIM:618773
HP:0001197	Abnormality of prenatal development or birth	2324	FLT4	OMIM:153100
HP:0001197	Abnormality of prenatal development or birth	79587	CARS2	ORPHA:477774
HP:0001197	Abnormality of prenatal development or birth	2303	FOXC2	OMIM:153400
HP:0001197	Abnormality of prenatal development or birth	55278	QRSL1	OMIM:618835
HP:0001197	Abnormality of prenatal development or birth	5188	GATB	OMIM:618838
HP:0001197	Abnormality of prenatal development or birth	9971	NR1H4	OMIM:617049
HP:0001197	Abnormality of prenatal development or birth	5921	RASA1	ORPHA:137667
HP:0001197	Abnormality of prenatal development or birth	23169	SLC35D1	OMIM:269250
HP:0001197	Abnormality of prenatal development or birth	7390	UROS	ORPHA:79277
HP:0001197	Abnormality of prenatal development or birth	283459	GATC	OMIM:618839
HP:0001197	Abnormality of prenatal development or birth	56052	ALG1	OMIM:608540
HP:0001197	Abnormality of prenatal development or birth	5476	CTSA	OMIM:256540
HP:0001197	Abnormality of prenatal development or birth	5373	PMM2	OMIM:212065
HP:0001197	Abnormality of prenatal development or birth	2783	GNB2	OMIM:619503
HP:0001197	Abnormality of prenatal development or birth	10577	NPC2	OMIM:607625
HP:0001197	Abnormality of prenatal development or birth	3295	HSD17B4	OMIM:261515
HP:0001197	Abnormality of prenatal development or birth	4864	NPC1	OMIM:257220
HP:0001197	Abnormality of prenatal development or birth	5745	PTH1R	OMIM:215045
HP:0001197	Abnormality of prenatal development or birth	1984	EIF5A	OMIM:619376
HP:0001197	Abnormality of prenatal development or birth	94005	PIGS	OMIM:618143
HP:0001197	Abnormality of prenatal development or birth	3800	KIF5C	OMIM:615282
HP:0001197	Abnormality of prenatal development or birth	1281	COL3A1	OMIM:130050
HP:0001197	Abnormality of prenatal development or birth	5324	PLAG1	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	8091	HMGA2	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	3479	IGF1	ORPHA:73272
HP:0001197	Abnormality of prenatal development or birth	26227	PHGDH	OMIM:256520
HP:0001197	Abnormality of prenatal development or birth	388015	RTL1	ORPHA:254534
HP:0001197	Abnormality of prenatal development or birth	388015	RTL1	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	388015	RTL1	ORPHA:254528
HP:0001197	Abnormality of prenatal development or birth	8788	DLK1	ORPHA:254534
HP:0001197	Abnormality of prenatal development or birth	8788	DLK1	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	8788	DLK1	ORPHA:254528
HP:0001197	Abnormality of prenatal development or birth	55384	MEG3	ORPHA:254534
HP:0001197	Abnormality of prenatal development or birth	55384	MEG3	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	55384	MEG3	ORPHA:254528
HP:0001197	Abnormality of prenatal development or birth	54903	MKS1	OMIM:249000
HP:0001197	Abnormality of prenatal development or birth	9652	SKIC3	OMIM:222470
HP:0001197	Abnormality of prenatal development or birth	7051	TGM1	OMIM:242300
HP:0001197	Abnormality of prenatal development or birth	3141	HLCS	ORPHA:79242
HP:0001197	Abnormality of prenatal development or birth	6023	RMRP	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	55636	CHD7	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	3981	LIG4	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	5896	RAG1	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	5897	RAG2	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	64421	DCLRE1C	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	100	ADA	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	3575	IL7R	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	3561	IL2RG	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	2629	GBA1	OMIM:608013
HP:0001197	Abnormality of prenatal development or birth	10999	SLC27A4	ORPHA:88621
HP:0001197	Abnormality of prenatal development or birth	4014	LORICRIN	OMIM:604117
HP:0001197	Abnormality of prenatal development or birth	51371	POMP	OMIM:601952
HP:0001197	Abnormality of prenatal development or birth	2706	GJB2	ORPHA:494
HP:0001197	Abnormality of prenatal development or birth	2706	GJB2	OMIM:124500
HP:0001197	Abnormality of prenatal development or birth	8626	TP63	ORPHA:1072
HP:0001197	Abnormality of prenatal development or birth	162514	TRPV3	OMIM:614594
HP:0001197	Abnormality of prenatal development or birth	25959	KANK2	OMIM:616099
HP:0001197	Abnormality of prenatal development or birth	2733	GLE1	ORPHA:1486
HP:0001197	Abnormality of prenatal development or birth	55612	FERMT1	OMIM:173650
HP:0001197	Abnormality of prenatal development or birth	3848	KRT1	OMIM:146590
HP:0001197	Abnormality of prenatal development or birth	56916	SMARCAD1	ORPHA:1658
HP:0001197	Abnormality of prenatal development or birth	2697	GJA1	ORPHA:1010
HP:0001197	Abnormality of prenatal development or birth	340533	NEXMIF	OMIM:300912
HP:0001197	Abnormality of prenatal development or birth	2743	GLRB	OMIM:614619
HP:0001197	Abnormality of prenatal development or birth	3930	LBR	OMIM:215140
HP:0001197	Abnormality of prenatal development or birth	23476	BRD4	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	9126	SMC3	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	8243	SMC1A	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	25836	NIPBL	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	55869	HDAC8	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	5885	RAD21	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	9321	TRIP11	OMIM:200600
HP:0001197	Abnormality of prenatal development or birth	104	ADARB1	OMIM:618862
HP:0001197	Abnormality of prenatal development or birth	4593	MUSK	OMIM:208150
HP:0001197	Abnormality of prenatal development or birth	8216	LZTR1	OMIM:616564
HP:0001197	Abnormality of prenatal development or birth	8216	LZTR1	OMIM:605275
HP:0001197	Abnormality of prenatal development or birth	29895	MYL11	OMIM:619110
HP:0001197	Abnormality of prenatal development or birth	10274	STAG1	OMIM:617635
HP:0001197	Abnormality of prenatal development or birth	6804	STX1A	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	7461	CLIP2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	84277	DNAJC30	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	8468	FKBP6	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	5982	RFC2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	2969	GTF2I	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	3984	LIMK1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	9569	GTF2IRD1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	155382	VPS37D	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	155368	METTL27	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	114049	BUD23	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	7458	EIF4H	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	84163	GTF2IRD2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	9275	BCL7B	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	26608	TBL2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	653361	NCF1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	135886	TMEM270	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	51085	MLXIPL	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	9031	BAZ1B	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	2006	ELN	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	79770	TXNDC15	OMIM:619879
HP:0001197	Abnormality of prenatal development or birth	415	ARSL	ORPHA:79345
HP:0001197	Abnormality of prenatal development or birth	83475	DOHH	OMIM:620066
HP:0001197	Abnormality of prenatal development or birth	3190	HNRNPK	ORPHA:352665
HP:0001197	Abnormality of prenatal development or birth	3190	HNRNPK	ORPHA:453504
HP:0001197	Abnormality of prenatal development or birth	23556	PIGN	ORPHA:280633
HP:0001197	Abnormality of prenatal development or birth	9896	FIG4	ORPHA:3472
HP:0001197	Abnormality of prenatal development or birth	55697	VAC14	ORPHA:3472
HP:0001197	Abnormality of prenatal development or birth	9184	BUB3	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	9702	CEP57	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	701	BUB1B	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	2050	EPHB4	OMIM:617300
HP:0001197	Abnormality of prenatal development or birth	1822	ATN1	OMIM:618494
HP:0001197	Abnormality of prenatal development or birth	55790	CSGALNACT1	OMIM:618870
HP:0001197	Abnormality of prenatal development or birth	10082	GPC6	ORPHA:93329
HP:0001197	Abnormality of prenatal development or birth	4953	ODC1	ORPHA:544488
HP:0001197	Abnormality of prenatal development or birth	1717	DHCR7	ORPHA:818
HP:0001197	Abnormality of prenatal development or birth	168667	BMPER	OMIM:608022
HP:0001197	Abnormality of prenatal development or birth	2155	F7	ORPHA:327
HP:0001197	Abnormality of prenatal development or birth	5879	RAC1	OMIM:617751
HP:0001197	Abnormality of prenatal development or birth	374879	ZNF699	OMIM:619488
HP:0001197	Abnormality of prenatal development or birth	8085	KMT2D	OMIM:620186
HP:0001197	Abnormality of prenatal development or birth	84992	PIGY	OMIM:616809
HP:0001197	Abnormality of prenatal development or birth	2258	FGF13	OMIM:301058
HP:0001197	Abnormality of prenatal development or birth	284058	KANSL1	ORPHA:363965
HP:0001197	Abnormality of prenatal development or birth	284058	KANSL1	ORPHA:363958
HP:0001197	Abnormality of prenatal development or birth	1182	CLCN3	OMIM:619512
HP:0001197	Abnormality of prenatal development or birth	10398	MYL9	OMIM:619365
HP:0001197	Abnormality of prenatal development or birth	93627	TBCK	OMIM:616900
HP:0001197	Abnormality of prenatal development or birth	10472	ZBTB18	OMIM:612337
HP:0001197	Abnormality of prenatal development or birth	54796	BNC2	ORPHA:93110
HP:0001197	Abnormality of prenatal development or birth	55252	ASXL2	OMIM:617190
HP:0001197	Abnormality of prenatal development or birth	51021	MRPS16	OMIM:610498
HP:0001197	Abnormality of prenatal development or birth	9578	CDC42BPB	OMIM:619841
HP:0001197	Abnormality of prenatal development or birth	56896	DPYSL5	OMIM:619435
HP:0001197	Abnormality of prenatal development or birth	5297	PI4KA	ORPHA:436252
HP:0001197	Abnormality of prenatal development or birth	57217	TTC7A	ORPHA:436252
HP:0001197	Abnormality of prenatal development or birth	57217	TTC7A	OMIM:243150
HP:0001197	Abnormality of prenatal development or birth	54361	WNT4	OMIM:611812
HP:0001197	Abnormality of prenatal development or birth	100128927	ZBTB42	OMIM:616248
HP:0001197	Abnormality of prenatal development or birth	57211	ADGRG6	OMIM:616503
HP:0001197	Abnormality of prenatal development or birth	2187	FANCB	OMIM:314390
HP:0001197	Abnormality of prenatal development or birth	7547	ZIC3	OMIM:314390
HP:0001197	Abnormality of prenatal development or birth	26153	KIF26A	OMIM:620156
HP:0001197	Abnormality of prenatal development or birth	2271	FH	OMIM:606812
HP:0001197	Abnormality of prenatal development or birth	526	ATP6V1B2	ORPHA:79500
HP:0001197	Abnormality of prenatal development or birth	57465	TBC1D24	ORPHA:79500
HP:0001197	Abnormality of prenatal development or birth	57551	TAOK1	OMIM:619575
HP:0001197	Abnormality of prenatal development or birth	6872	TAF1	OMIM:300966
HP:0001197	Abnormality of prenatal development or birth	5447	POR	OMIM:201750
HP:0001197	Abnormality of prenatal development or birth	776	CACNA1D	ORPHA:369929
HP:0001197	Abnormality of prenatal development or birth	80816	ASXL3	OMIM:615485
HP:0001197	Abnormality of prenatal development or birth	55037	PTCD3	OMIM:619057
HP:0001197	Abnormality of prenatal development or birth	23287	AGTPBP1	OMIM:618276
HP:0001197	Abnormality of prenatal development or birth	4976	OPA1	OMIM:616896
HP:0001197	Abnormality of prenatal development or birth	4534	MTM1	OMIM:310400
HP:0001197	Abnormality of prenatal development or birth	11128	POLR3A	ORPHA:3455
HP:0001197	Abnormality of prenatal development or birth	4173	MCM4	OMIM:609981
HP:0001197	Abnormality of prenatal development or birth	411	ARSB	OMIM:253200
HP:0001197	Abnormality of prenatal development or birth	1584	CYP11B1	ORPHA:403
HP:0001197	Abnormality of prenatal development or birth	1585	CYP11B2	ORPHA:403
HP:0001197	Abnormality of prenatal development or birth	6304	SATB1	OMIM:619229
HP:0001197	Abnormality of prenatal development or birth	9152	SLC6A5	OMIM:614618
HP:0001197	Abnormality of prenatal development or birth	1917	EEF1A2	OMIM:616393
HP:0001197	Abnormality of prenatal development or birth	10269	ZMPSTE24	OMIM:275210
HP:0001197	Abnormality of prenatal development or birth	2188	FANCF	OMIM:603467
HP:0001197	Abnormality of prenatal development or birth	3075	CFH	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	3426	CFI	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	4179	CD46	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	101101692	HELLPAR	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	7386	UQCRFS1	OMIM:618775
HP:0001197	Abnormality of prenatal development or birth	8647	ABCB11	ORPHA:69665
HP:0001197	Abnormality of prenatal development or birth	55023	PHIP	OMIM:617991
HP:0001197	Abnormality of prenatal development or birth	10588	MTHFS	OMIM:618367
HP:0001197	Abnormality of prenatal development or birth	6711	SPTBN1	OMIM:619475
HP:0001197	Abnormality of prenatal development or birth	2157	F8	ORPHA:169802
HP:0001197	Abnormality of prenatal development or birth	2147	F2	ORPHA:325
HP:0001197	Abnormality of prenatal development or birth	2811	GP1BA	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3674	ITGA2B	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3673	ITGA2	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	135228	CD109	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3690	ITGB3	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	699	BUB1	OMIM:620183
HP:0001197	Abnormality of prenatal development or birth	10128	LRPPRC	OMIM:220111
HP:0001197	Abnormality of prenatal development or birth	11212	PLPBP	OMIM:617290
HP:0001197	Abnormality of prenatal development or birth	11212	PLPBP	ORPHA:3006
HP:0001197	Abnormality of prenatal development or birth	54539	NDUFB11	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	25915	NDUFAF3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	51103	NDUFAF1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	91942	NDUFAF2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	51300	TIMMDC1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4716	NDUFB10	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4723	NDUFV1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	55572	FOXRED1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	284184	NDUFAF8	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	55863	TMEM126B	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4535	MT-ND1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4537	MT-ND3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4729	NDUFV2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4694	NDUFA1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4720	NDUFS2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4724	NDUFS4	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4726	NDUFS6	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4728	NDUFS8	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4722	NDUFS3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	79133	NDUFAF5	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	126328	NDUFA11	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4709	NDUFB3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	80224	NUBPL	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	29078	NDUFAF4	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	374291	NDUFS7	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4700	NDUFA6	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4536	MT-ND2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4719	NDUFS1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4715	NDUFB9	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	23013	SPEN	OMIM:619312
HP:0001197	Abnormality of prenatal development or birth	10664	CTCF	ORPHA:363611
HP:0001197	Abnormality of prenatal development or birth	79989	IFT56	OMIM:619534
HP:0001197	Abnormality of prenatal development or birth	2334	AFF2	OMIM:309548
HP:0001197	Abnormality of prenatal development or birth	10526	IPO8	OMIM:619472
HP:0001197	Abnormality of prenatal development or birth	6651	SON	ORPHA:500150
HP:0001197	Abnormality of prenatal development or birth	5167	ENPP1	ORPHA:51608
HP:0001197	Abnormality of prenatal development or birth	5167	ENPP1	OMIM:208000
HP:0001197	Abnormality of prenatal development or birth	368	ABCC6	ORPHA:51608
HP:0001197	Abnormality of prenatal development or birth	28962	OSTM1	ORPHA:85179
HP:0001197	Abnormality of prenatal development or birth	5393	EXOSC9	OMIM:618065
HP:0001197	Abnormality of prenatal development or birth	4000	LMNA	OMIM:619793
HP:0001197	Abnormality of prenatal development or birth	4705	NDUFA10	OMIM:618243
HP:0001197	Abnormality of prenatal development or birth	11274	USP18	OMIM:617397
HP:0001197	Abnormality of prenatal development or birth	6135	RPL11	OMIM:612562
HP:0001197	Abnormality of prenatal development or birth	816	CAMK2B	OMIM:617799
HP:0001197	Abnormality of prenatal development or birth	5828	PEX2	OMIM:614866
HP:0001197	Abnormality of prenatal development or birth	1788	DNMT3A	OMIM:615879
HP:0001197	Abnormality of prenatal development or birth	9570	GOSR2	OMIM:620166
HP:0001197	Abnormality of prenatal development or birth	501	ALDH7A1	ORPHA:3006
HP:0001197	Abnormality of prenatal development or birth	501	ALDH7A1	OMIM:266100
HP:0001197	Abnormality of prenatal development or birth	5205	ATP8B1	OMIM:147480
HP:0001197	Abnormality of prenatal development or birth	6536	SLC6A9	OMIM:617301
HP:0001197	Abnormality of prenatal development or birth	5277	PIGA	OMIM:300868
HP:0001197	Abnormality of prenatal development or birth	284361	EMC10	OMIM:619264
HP:0001197	Abnormality of prenatal development or birth	5244	ABCB4	OMIM:614972
HP:0001197	Abnormality of prenatal development or birth	56479	KCNQ5	OMIM:617601
HP:0001197	Abnormality of prenatal development or birth	10320	IKZF1	OMIM:616873
HP:0001197	Abnormality of prenatal development or birth	3557	IL1RN	OMIM:612852
HP:0001197	Abnormality of prenatal development or birth	55210	ATAD3A	OMIM:618810
HP:0001197	Abnormality of prenatal development or birth	6513	SLC2A1	OMIM:608885
HP:0001197	Abnormality of prenatal development or birth	5826	ABCD4	OMIM:614857
HP:0001197	Abnormality of prenatal development or birth	8905	AP1S2	OMIM:304340
HP:0001197	Abnormality of prenatal development or birth	2623	GATA1	OMIM:190685
HP:0001197	Abnormality of prenatal development or birth	286204	CRB2	OMIM:219730
HP:0001197	Abnormality of prenatal development or birth	23395	LARS2	OMIM:617021
HP:0001197	Abnormality of prenatal development or birth	55901	THSD1	OMIM:620244
HP:0001197	Abnormality of prenatal development or birth	6007	RHD	OMIM:619462
HP:0001197	Abnormality of prenatal development or birth	56945	MRPS22	OMIM:611719
HP:0001197	Abnormality of prenatal development or birth	4927	NUP88	OMIM:618393
HP:0001197	Abnormality of prenatal development or birth	54675	CRLS1	OMIM:620167
HP:0001197	Abnormality of prenatal development or birth	29969	MDFIC	OMIM:620014
HP:0001197	Abnormality of prenatal development or birth	1583	CYP11A1	ORPHA:289548
HP:0001197	Abnormality of prenatal development or birth	1583	CYP11A1	ORPHA:168558
HP:0001197	Abnormality of prenatal development or birth	2165	F13B	ORPHA:331
HP:0001197	Abnormality of prenatal development or birth	2162	F13A1	ORPHA:331
HP:0001197	Abnormality of prenatal development or birth	5054	SERPINE1	ORPHA:465
HP:0001197	Abnormality of prenatal development or birth	55163	PNPO	ORPHA:79096
HP:0001197	Abnormality of prenatal development or birth	9361	LONP1	ORPHA:79243
HP:0001197	Abnormality of prenatal development or birth	5160	PDHA1	ORPHA:79243
HP:0001197	Abnormality of prenatal development or birth	55784	MCTP2	ORPHA:1596
HP:0001197	Abnormality of prenatal development or birth	7681	MKRN3	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	3653	IPW	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	791114	PWRN1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	100033413	SNORD116-1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	8924	HERC2	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	145624	PWAR1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	23742	NPAP1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	338433	SNORD115-1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	5631	PRPS1	ORPHA:423479
HP:0001197	Abnormality of prenatal development or birth	8239	USP9X	ORPHA:480880
HP:0001197	Abnormality of prenatal development or birth	50506	DUOX2	ORPHA:226316
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	1028	CDKN1C	OMIM:130650
HP:0001197	Abnormality of prenatal development or birth	10984	KCNQ1OT1	OMIM:130650
HP:0001197	Abnormality of prenatal development or birth	3481	IGF2	OMIM:130650
HP:0001197	Abnormality of prenatal development or birth	3784	KCNQ1	OMIM:130650
HP:0001197	Abnormality of prenatal development or birth	199713	NLRP7	OMIM:231090
HP:0001197	Abnormality of prenatal development or birth	154288	KHDC3L	OMIM:614293
HP:0001197	Abnormality of prenatal development or birth	150365	MEI1	OMIM:618431
HP:0001197	Abnormality of prenatal development or birth	79703	TOP6BL	OMIM:618432
HP:0001197	Abnormality of prenatal development or birth	3689	ITGB2	OMIM:116920
HP:0001197	Abnormality of prenatal development or birth	5880	RAC2	OMIM:608203
HP:0001197	Abnormality of prenatal development or birth	3572	IL6ST	OMIM:619752
HP:0001197	Abnormality of prenatal development or birth	4615	MYD88	OMIM:612260
HP:0001197	Abnormality of prenatal development or birth	6603	SMARCD2	OMIM:617475
HP:0001197	Abnormality of prenatal development or birth	10616	RBCK1	OMIM:615895
HP:0001197	Abnormality of prenatal development or birth	92579	G6PC3	OMIM:612541
HP:0001197	Abnormality of prenatal development or birth	2215	FCGR3B	ORPHA:464370
HP:0001197	Abnormality of prenatal development or birth	353238	PADI6	OMIM:617234
HP:0001197	Abnormality of prenatal development or birth	286151	FBXO43	OMIM:619697
HP:0001197	Abnormality of prenatal development or birth	54766	BTG4	OMIM:619009
HP:0001197	Abnormality of prenatal development or birth	9319	TRIP13	OMIM:619011
HP:0001197	Abnormality of prenatal development or birth	80726	IQCN	OMIM:620170
HP:0001197	Abnormality of prenatal development or birth	678	ZFP36L2	OMIM:620154
HP:0001197	Abnormality of prenatal development or birth	1725	DHPS	OMIM:618480
HP:0001197	Abnormality of prenatal development or birth	23426	GRIP1	OMIM:617667
HP:0001197	Abnormality of prenatal development or birth	27077	B9D1	OMIM:614209
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	OMIM:187600
HP:0001197	Abnormality of prenatal development or birth	6925	TCF4	OMIM:610954
HP:0001197	Abnormality of prenatal development or birth	117581	TWIST2	OMIM:200110
HP:0001197	Abnormality of prenatal development or birth	2321	FLT1	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	219736	STOX1	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	10699	CORIN	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	2720	GLB1	ORPHA:79255
HP:0001197	Abnormality of prenatal development or birth	57061	HYMAI	ORPHA:96191
HP:0001197	Abnormality of prenatal development or birth	5325	PLAGL1	ORPHA:96191
HP:0001197	Abnormality of prenatal development or birth	7157	TP53	OMIM:151623
HP:0001197	Abnormality of prenatal development or birth	7157	TP53	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	1029	CDKN2A	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	4193	MDM2	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	11200	CHEK2	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	6794	STK11	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	8915	BCL10	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	3815	KIT	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	283677	REC114	OMIM:619176
HP:0034207	Abnormal fetal gastrointestinal system morphology	2783	GNB2	OMIM:619503
HP:0034207	Abnormal fetal gastrointestinal system morphology	10577	NPC2	OMIM:607625
HP:0034207	Abnormal fetal gastrointestinal system morphology	3295	HSD17B4	OMIM:261515
HP:0034207	Abnormal fetal gastrointestinal system morphology	29969	MDFIC	OMIM:620014
HP:0034207	Abnormal fetal gastrointestinal system morphology	4864	NPC1	OMIM:257220
HP:0034207	Abnormal fetal gastrointestinal system morphology	5745	PTH1R	OMIM:215045
HP:0034207	Abnormal fetal gastrointestinal system morphology	6007	RHD	OMIM:619462
HP:0034207	Abnormal fetal gastrointestinal system morphology	1984	EIF5A	OMIM:619376
HP:0034207	Abnormal fetal gastrointestinal system morphology	3930	LBR	OMIM:215140
HP:0034207	Abnormal fetal gastrointestinal system morphology	374879	ZNF699	OMIM:619488
HP:0034207	Abnormal fetal gastrointestinal system morphology	8085	KMT2D	OMIM:620186
HP:0034207	Abnormal fetal gastrointestinal system morphology	84992	PIGY	OMIM:616809
HP:0034207	Abnormal fetal gastrointestinal system morphology	100128927	ZBTB42	OMIM:616248
HP:0034207	Abnormal fetal gastrointestinal system morphology	4927	NUP88	OMIM:618393
HP:0034207	Abnormal fetal gastrointestinal system morphology	9321	TRIP11	OMIM:200600
HP:0034207	Abnormal fetal gastrointestinal system morphology	57211	ADGRG6	OMIM:616503
HP:0034207	Abnormal fetal gastrointestinal system morphology	2187	FANCB	OMIM:314390
HP:0034207	Abnormal fetal gastrointestinal system morphology	7547	ZIC3	OMIM:314390
HP:0034207	Abnormal fetal gastrointestinal system morphology	26153	KIF26A	OMIM:620156
HP:0034207	Abnormal fetal gastrointestinal system morphology	2623	GATA1	OMIM:190685
HP:0034206	Abnormal fetal central nervous system morphology	55252	ASXL2	OMIM:617190
HP:0034206	Abnormal fetal central nervous system morphology	51021	MRPS16	OMIM:610498
HP:0034206	Abnormal fetal central nervous system morphology	9578	CDC42BPB	OMIM:619841
HP:0034206	Abnormal fetal central nervous system morphology	56896	DPYSL5	OMIM:619435
HP:0034206	Abnormal fetal central nervous system morphology	1725	DHPS	OMIM:618480
HP:0034208	Fetal intracranial hemorrhage	1725	DHPS	OMIM:618480
HP:0008354	Factor X activation deficiency	196527	ANO6	OMIM:262890
HP:0008353	Neutral hyperaminoaciduria	340024	SLC6A19	ORPHA:2116
HP:0008353	Neutral hyperaminoaciduria	340024	SLC6A19	OMIM:234500
HP:0008353	Neutral hyperaminoaciduria	57393	CLTRN	ORPHA:2116
HP:0008358	Hyperprolinemia	9377	COX5A	OMIM:619064
HP:0008358	Hyperprolinemia	9056	SLC7A7	ORPHA:470
HP:0008358	Hyperprolinemia	5625	PRODH	OMIM:600850
HP:0008358	Hyperprolinemia	5625	PRODH	OMIM:239500
HP:0008358	Hyperprolinemia	5625	PRODH	ORPHA:419
HP:0008358	Hyperprolinemia	4718	NDUFC2	OMIM:619170
HP:0008358	Hyperprolinemia	4716	NDUFB10	OMIM:619003
HP:0008358	Hyperprolinemia	51241	COX16	OMIM:619355
HP:0008358	Hyperprolinemia	348932	SLC6A18	ORPHA:42062
HP:0008358	Hyperprolinemia	153201	SLC36A2	ORPHA:42062
HP:0008358	Hyperprolinemia	54716	SLC6A20	ORPHA:42062
HP:0008358	Hyperprolinemia	340024	SLC6A19	ORPHA:42062
HP:0008358	Hyperprolinemia	51601	LIPT1	OMIM:616299
HP:0008358	Hyperprolinemia	1352	COX10	OMIM:619046
HP:0008358	Hyperprolinemia	763	CA5A	OMIM:615751
HP:0008358	Hyperprolinemia	498	ATP5F1A	OMIM:620358
HP:0008358	Hyperprolinemia	8659	ALDH4A1	ORPHA:79101
HP:0008358	Hyperprolinemia	8659	ALDH4A1	OMIM:239510
HP:0008358	Hyperprolinemia	54704	PDP1	ORPHA:79246
HP:0008358	Hyperprolinemia	80222	TARS2	OMIM:615918
HP:0008357	Reduced factor XIII activity	2542	SLC37A4	OMIM:619525
HP:0008357	Reduced factor XIII activity	5604	MAP2K1	OMIM:163950
HP:0008357	Reduced factor XIII activity	5781	PTPN11	OMIM:163950
HP:0008357	Reduced factor XIII activity	673	BRAF	OMIM:163950
HP:0008357	Reduced factor XIII activity	2162	F13A1	OMIM:613225
HP:0008357	Reduced factor XIII activity	2165	F13B	OMIM:613235
HP:0034210	Fetal intraventricular hemorrhage	1725	DHPS	OMIM:618480
HP:0034217	Sonographic non-visualized fetal bladder	23426	GRIP1	OMIM:617667
HP:0034217	Sonographic non-visualized fetal bladder	27077	B9D1	OMIM:614209
HP:0008365	Abnormal talus morphology	2036	EPB41L1	OMIM:614257
HP:0008365	Abnormal talus morphology	2074	ERCC6	OMIM:214150
HP:0008365	Abnormal talus morphology	23265	EXOC7	OMIM:619072
HP:0008365	Abnormal talus morphology	55906	ZC4H2	OMIM:301041
HP:0008365	Abnormal talus morphology	80347	COASY	OMIM:618266
HP:0008365	Abnormal talus morphology	5447	POR	OMIM:201750
HP:0008365	Abnormal talus morphology	5447	POR	ORPHA:95699
HP:0008365	Abnormal talus morphology	5447	POR	OMIM:207410
HP:0008365	Abnormal talus morphology	54809	SAMD9	OMIM:617053
HP:0008365	Abnormal talus morphology	285489	DOK7	OMIM:618389
HP:0008365	Abnormal talus morphology	8294	H4C9	OMIM:619951
HP:0008365	Abnormal talus morphology	3236	HOXD10	OMIM:192950
HP:0008365	Abnormal talus morphology	4593	MUSK	OMIM:208150
HP:0008365	Abnormal talus morphology	10526	IPO8	OMIM:619472
HP:0008365	Abnormal talus morphology	29895	MYL11	OMIM:619110
HP:0008365	Abnormal talus morphology	6659	SOX4	OMIM:618506
HP:0008365	Abnormal talus morphology	1861	TOR1A	OMIM:618947
HP:0008365	Abnormal talus morphology	9820	CUL7	ORPHA:2616
HP:0008365	Abnormal talus morphology	23363	OBSL1	ORPHA:2616
HP:0008365	Abnormal talus morphology	83987	CCDC8	ORPHA:2616
HP:0008365	Abnormal talus morphology	9894	TELO2	ORPHA:488642
HP:0008365	Abnormal talus morphology	55627	SMPD4	OMIM:618622
HP:0008365	Abnormal talus morphology	81031	SLC2A10	ORPHA:3342
HP:0008365	Abnormal talus morphology	7486	WRN	ORPHA:902
HP:0008365	Abnormal talus morphology	55593	OTUD5	OMIM:301056
HP:0008365	Abnormal talus morphology	51611	DPH5	OMIM:620070
HP:0008365	Abnormal talus morphology	55315	SLC29A3	OMIM:602782
HP:0008365	Abnormal talus morphology	4927	NUP88	OMIM:618393
HP:0008365	Abnormal talus morphology	4094	MAF	ORPHA:1272
HP:0008365	Abnormal talus morphology	8314	BAP1	OMIM:619762
HP:0008365	Abnormal talus morphology	2073	ERCC5	OMIM:616570
HP:0008365	Abnormal talus morphology	10436	EMG1	ORPHA:1270
HP:0008365	Abnormal talus morphology	10436	EMG1	OMIM:211180
HP:0008365	Abnormal talus morphology	5649	RELN	ORPHA:89844
HP:0008365	Abnormal talus morphology	10300	KATNB1	ORPHA:89844
HP:0008365	Abnormal talus morphology	54820	NDE1	ORPHA:89844
HP:0008365	Abnormal talus morphology	113179	ADAT3	ORPHA:363528
HP:0008365	Abnormal talus morphology	9928	KIF14	OMIM:616258
HP:0008365	Abnormal talus morphology	2263	FGFR2	OMIM:207410
HP:0008365	Abnormal talus morphology	9373	PLAA	ORPHA:521426
HP:0008365	Abnormal talus morphology	9373	PLAA	OMIM:617527
HP:0008365	Abnormal talus morphology	16	AARS1	OMIM:616339
HP:0008365	Abnormal talus morphology	57492	ARID1B	ORPHA:251056
HP:0008365	Abnormal talus morphology	2068	ERCC2	OMIM:610756
HP:0008365	Abnormal talus morphology	2316	FLNA	OMIM:304120
HP:0008365	Abnormal talus morphology	2067	ERCC1	OMIM:610758
HP:0008365	Abnormal talus morphology	5189	PEX1	OMIM:214100
HP:0008365	Abnormal talus morphology	8241	RBM10	ORPHA:2886
HP:0008365	Abnormal talus morphology	8241	RBM10	OMIM:311900
HP:0008365	Abnormal talus morphology	7169	TPM2	OMIM:108120
HP:0008365	Abnormal talus morphology	7169	TPM2	ORPHA:1146
HP:0008365	Abnormal talus morphology	1146	CHRNG	OMIM:265000
HP:0008365	Abnormal talus morphology	4621	MYH3	OMIM:193700
HP:0008365	Abnormal talus morphology	4621	MYH3	ORPHA:1146
HP:0008365	Abnormal talus morphology	8218	CLTCL1	ORPHA:453510
HP:0008365	Abnormal talus morphology	89970	RSPRY1	ORPHA:457395
HP:0008365	Abnormal talus morphology	2733	GLE1	OMIM:611890
HP:0008365	Abnormal talus morphology	23511	NUP188	OMIM:618804
HP:0008365	Abnormal talus morphology	7140	TNNT3	ORPHA:1146
HP:0008365	Abnormal talus morphology	259232	NALCN	ORPHA:1146
HP:0008365	Abnormal talus morphology	7136	TNNI2	ORPHA:1146
HP:0008365	Abnormal talus morphology	7136	TNNI2	OMIM:601680
HP:0008365	Abnormal talus morphology	4604	MYBPC1	ORPHA:1146
HP:0008365	Abnormal talus morphology	4604	MYBPC1	OMIM:614335
HP:0008365	Abnormal talus morphology	55681	SCYL2	ORPHA:1143
HP:0008365	Abnormal talus morphology	55681	SCYL2	OMIM:618766
HP:0008365	Abnormal talus morphology	84570	COL25A1	ORPHA:1143
HP:0008365	Abnormal talus morphology	57222	ERGIC1	ORPHA:1143
HP:0008365	Abnormal talus morphology	10269	ZMPSTE24	OMIM:275210
HP:0008365	Abnormal talus morphology	91647	ATPAF2	OMIM:604273
HP:0008365	Abnormal talus morphology	22827	PUF60	ORPHA:508488
HP:0008365	Abnormal talus morphology	9896	FIG4	ORPHA:3472
HP:0008365	Abnormal talus morphology	55697	VAC14	ORPHA:3472
HP:0008365	Abnormal talus morphology	29968	PSAT1	OMIM:616038
HP:0008365	Abnormal talus morphology	4233	MET	OMIM:620019
HP:0008365	Abnormal talus morphology	54551	MAGEL2	OMIM:615547
HP:0008365	Abnormal talus morphology	4000	LMNA	ORPHA:79474
HP:0008365	Abnormal talus morphology	26227	PHGDH	OMIM:256520
HP:0008365	Abnormal talus morphology	5251	PHEX	OMIM:307800
HP:0008365	Abnormal talus morphology	5251	PHEX	ORPHA:89936
HP:0008365	Abnormal talus morphology	2019	EN1	OMIM:619218
HP:0008364	Abnormality of the calcaneus	7169	TPM2	OMIM:108120
HP:0008364	Abnormality of the calcaneus	9839	ZEB2	ORPHA:261537
HP:0008364	Abnormality of the calcaneus	9839	ZEB2	ORPHA:261552
HP:0008364	Abnormality of the calcaneus	284058	KANSL1	ORPHA:363965
HP:0008364	Abnormality of the calcaneus	284058	KANSL1	ORPHA:363958
HP:0008364	Abnormality of the calcaneus	1278	COL1A2	ORPHA:230851
HP:0008364	Abnormality of the calcaneus	1278	COL1A2	OMIM:225320
HP:0008364	Abnormality of the calcaneus	3236	HOXD10	OMIM:192950
HP:0008364	Abnormality of the calcaneus	259232	NALCN	OMIM:616266
HP:0008364	Abnormality of the calcaneus	9427	ECEL1	OMIM:615065
HP:0008364	Abnormality of the calcaneus	92949	ADAMTSL1	ORPHA:521445
HP:0008364	Abnormality of the calcaneus	2146	EZH2	OMIM:277590
HP:0008364	Abnormality of the calcaneus	4233	MET	OMIM:620019
HP:0008364	Abnormality of the calcaneus	7136	TNNI2	OMIM:601680
HP:0008364	Abnormality of the calcaneus	10159	ATP6AP2	ORPHA:93952
HP:0008364	Abnormality of the calcaneus	26227	PHGDH	OMIM:256520
HP:0008364	Abnormality of the calcaneus	2316	FLNA	OMIM:311300
HP:0008364	Abnormality of the calcaneus	2317	FLNB	OMIM:150250
HP:0008364	Abnormality of the calcaneus	10804	GJB6	ORPHA:477
HP:0008364	Abnormality of the calcaneus	2706	GJB2	ORPHA:477
HP:0008364	Abnormality of the calcaneus	3032	HADHB	ORPHA:746
HP:0008364	Abnormality of the calcaneus	3030	HADHA	ORPHA:746
HP:0008364	Abnormality of the calcaneus	6857	SYT1	ORPHA:522077
HP:0008364	Abnormality of the calcaneus	165	AEBP1	ORPHA:536532
HP:0008364	Abnormality of the calcaneus	2200	FBN1	OMIM:154700
HP:0008364	Abnormality of the calcaneus	1280	COL2A1	OMIM:183900
HP:0008364	Abnormality of the calcaneus	10013	HDAC6	ORPHA:163966
HP:0008364	Abnormality of the calcaneus	89970	RSPRY1	ORPHA:457395
HP:0008364	Abnormality of the calcaneus	54808	DYM	OMIM:223800
HP:0008364	Abnormality of the calcaneus	23314	SATB2	ORPHA:251028
HP:0008364	Abnormality of the calcaneus	83987	CCDC8	OMIM:614205
HP:0008364	Abnormality of the calcaneus	84340	GFM2	ORPHA:565624
HP:0008364	Abnormality of the calcaneus	23363	OBSL1	OMIM:612921
HP:0008364	Abnormality of the calcaneus	388015	RTL1	ORPHA:96334
HP:0008364	Abnormality of the calcaneus	8788	DLK1	ORPHA:96334
HP:0008364	Abnormality of the calcaneus	55384	MEG3	ORPHA:96334
HP:0008364	Abnormality of the calcaneus	83452	RAB33B	OMIM:615222
HP:0008364	Abnormality of the calcaneus	3930	LBR	OMIM:215140
HP:0008369	Abnormal tarsal ossification	5745	PTH1R	OMIM:600002
HP:0008369	Abnormal tarsal ossification	3209	HOXA13	OMIM:140000
HP:0008369	Abnormal tarsal ossification	4148	MATN3	OMIM:607078
HP:0008369	Abnormal tarsal ossification	23169	SLC35D1	OMIM:269250
HP:0008369	Abnormal tarsal ossification	23169	SLC35D1	ORPHA:3144
HP:0008369	Abnormal tarsal ossification	3636	INPPL1	ORPHA:3144
HP:0008369	Abnormal tarsal ossification	124583	CANT1	OMIM:251450
HP:0008369	Abnormal tarsal ossification	10682	EBP	OMIM:302960
HP:0008369	Abnormal tarsal ossification	9451	EIF2AK3	OMIM:226980
HP:0008369	Abnormal tarsal ossification	1280	COL2A1	OMIM:183900
HP:0031784	Abnormal ascending aorta morphology	1281	COL3A1	OMIM:130050
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	OMIM:608328
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	OMIM:604308
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	11117	EMILIN1	OMIM:620080
HP:0031784	Abnormal ascending aorta morphology	4015	LOX	OMIM:617168
HP:0031784	Abnormal ascending aorta morphology	4015	LOX	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7043	TGFB3	OMIM:615582
HP:0031784	Abnormal ascending aorta morphology	7043	TGFB3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	8076	MFAP5	OMIM:616166
HP:0031784	Abnormal ascending aorta morphology	8076	MFAP5	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4638	MYLK	OMIM:613780
HP:0031784	Abnormal ascending aorta morphology	4638	MYLK	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	54538	ROBO4	OMIM:618496
HP:0031784	Abnormal ascending aorta morphology	2301	FOXE3	OMIM:617349
HP:0031784	Abnormal ascending aorta morphology	2301	FOXE3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	79875	THSD4	OMIM:619825
HP:0031784	Abnormal ascending aorta morphology	4088	SMAD3	OMIM:613795
HP:0031784	Abnormal ascending aorta morphology	4088	SMAD3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7046	TGFBR1	OMIM:609192
HP:0031784	Abnormal ascending aorta morphology	7046	TGFBR1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	OMIM:132900
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	ORPHA:229
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4091	SMAD6	OMIM:614823
HP:0031784	Abnormal ascending aorta morphology	4091	SMAD6	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	7048	TGFBR2	OMIM:610168
HP:0031784	Abnormal ascending aorta morphology	7048	TGFBR2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	5592	PRKG1	OMIM:615436
HP:0031784	Abnormal ascending aorta morphology	5592	PRKG1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4851	NOTCH1	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	1482	NKX2-5	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	140628	GATA5	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	59	ACTA2	OMIM:611788
HP:0031784	Abnormal ascending aorta morphology	59	ACTA2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4087	SMAD2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7042	TGFB2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4089	SMAD4	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4144	MAT2A	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	23493	HEY2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	2006	ELN	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	2783	GNB2	OMIM:619503
HP:0031785	Abnormal eyelid movement	1180	CLCN1	OMIM:160800
HP:0031785	Abnormal eyelid movement	1180	CLCN1	OMIM:255700
HP:0031790	Mixed astigmatism	60509	AGBL5	OMIM:617023
HP:0031792	Irregular astigmatism	83959	SLC4A11	ORPHA:293603
HP:0031792	Irregular astigmatism	1308	COL17A1	ORPHA:293381
HP:0031793	Increased serum leptin	109	ADCY3	OMIM:617885
HP:0031793	Increased serum leptin	4204	MECP2	ORPHA:778
HP:0034221	Abnormal temporal lobe morphology	2074	ERCC6	OMIM:214150
HP:0034221	Abnormal temporal lobe morphology	2074	ERCC6	OMIM:133540
HP:0034221	Abnormal temporal lobe morphology	2074	ERCC6	ORPHA:90324
HP:0034221	Abnormal temporal lobe morphology	2074	ERCC6	ORPHA:90321
HP:0034221	Abnormal temporal lobe morphology	2074	ERCC6	OMIM:278800
HP:0034221	Abnormal temporal lobe morphology	4558	MT-TF	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4572	MT-TQ	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4512	MT-CO1	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4513	MT-CO2	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4514	MT-CO3	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4578	MT-TW	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4540	MT-ND5	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4541	MT-ND6	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4535	MT-ND1	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4538	MT-ND4	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4567	MT-TL1	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4574	MT-TS1	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4575	MT-TS2	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	4564	MT-TH	ORPHA:550
HP:0034221	Abnormal temporal lobe morphology	113612	CYP2U1	OMIM:615030
HP:0034221	Abnormal temporal lobe morphology	79621	RNASEH2B	OMIM:610181
HP:0034221	Abnormal temporal lobe morphology	58494	JAM2	OMIM:618824
HP:0034221	Abnormal temporal lobe morphology	1161	ERCC8	ORPHA:90324
HP:0034221	Abnormal temporal lobe morphology	1161	ERCC8	ORPHA:90321
HP:0034221	Abnormal temporal lobe morphology	1161	ERCC8	OMIM:216400
HP:0034221	Abnormal temporal lobe morphology	9636	ISG15	OMIM:616126
HP:0034221	Abnormal temporal lobe morphology	2072	ERCC4	ORPHA:90321
HP:0034221	Abnormal temporal lobe morphology	54209	TREM2	OMIM:618193
HP:0034221	Abnormal temporal lobe morphology	100147744	RNU7-1	OMIM:619487
HP:0034221	Abnormal temporal lobe morphology	2767	GNA11	OMIM:615361
HP:0034221	Abnormal temporal lobe morphology	11277	TREX1	OMIM:225750
HP:0034221	Abnormal temporal lobe morphology	5155	PDGFB	OMIM:615483
HP:0034221	Abnormal temporal lobe morphology	5155	PDGFB	OMIM:213600
HP:0034221	Abnormal temporal lobe morphology	134353	LSM11	OMIM:619486
HP:0034221	Abnormal temporal lobe morphology	9213	XPR1	OMIM:616413
HP:0034221	Abnormal temporal lobe morphology	2625	GATA3	OMIM:146255
HP:0034221	Abnormal temporal lobe morphology	64135	IFIH1	OMIM:615846
HP:0034221	Abnormal temporal lobe morphology	5159	PDGFRB	OMIM:615007
HP:0034221	Abnormal temporal lobe morphology	5159	PDGFRB	OMIM:213600
HP:0034221	Abnormal temporal lobe morphology	57462	MYORG	OMIM:618317
HP:0034221	Abnormal temporal lobe morphology	760	CA2	OMIM:259730
HP:0034221	Abnormal temporal lobe morphology	760	CA2	ORPHA:2785
HP:0034221	Abnormal temporal lobe morphology	10059	DNM1L	ORPHA:98673
HP:0034221	Abnormal temporal lobe morphology	4976	OPA1	ORPHA:98673
HP:0034221	Abnormal temporal lobe morphology	90	ACVR1	OMIM:135100
HP:0034221	Abnormal temporal lobe morphology	2778	GNAS	OMIM:612462
HP:0034221	Abnormal temporal lobe morphology	2778	GNAS	ORPHA:79443
HP:0034221	Abnormal temporal lobe morphology	2778	GNAS	ORPHA:79444
HP:0034221	Abnormal temporal lobe morphology	2778	GNAS	OMIM:103580
HP:0034221	Abnormal temporal lobe morphology	727676	SNORD118	ORPHA:542310
HP:0034221	Abnormal temporal lobe morphology	91137	SLC25A46	OMIM:616505
HP:0034221	Abnormal temporal lobe morphology	6575	SLC20A2	OMIM:213600
HP:0034221	Abnormal temporal lobe morphology	63901	FAM111A	OMIM:127000
HP:0034221	Abnormal temporal lobe morphology	63901	FAM111A	ORPHA:93325
HP:0034221	Abnormal temporal lobe morphology	116442	RAB39B	OMIM:311510
HP:0034221	Abnormal temporal lobe morphology	56984	PSMG2	OMIM:619183
HP:0034221	Abnormal temporal lobe morphology	846	CASR	OMIM:601198
HP:0034221	Abnormal temporal lobe morphology	23258	DENND5A	OMIM:617281
HP:0034221	Abnormal temporal lobe morphology	23404	EXOSC2	OMIM:617763
HP:0034221	Abnormal temporal lobe morphology	7305	TYROBP	OMIM:221770
HP:0034221	Abnormal temporal lobe morphology	2071	ERCC3	OMIM:610651
HP:0034221	Abnormal temporal lobe morphology	113235	SLC46A1	OMIM:229050
HP:0034221	Abnormal temporal lobe morphology	25939	SAMHD1	OMIM:612952
HP:0034221	Abnormal temporal lobe morphology	5696	PSMB8	OMIM:256040
HP:0034221	Abnormal temporal lobe morphology	2697	GJA1	OMIM:164200
HP:0034221	Abnormal temporal lobe morphology	8905	AP1S2	OMIM:304340
HP:0034221	Abnormal temporal lobe morphology	1497	CTNS	OMIM:219800
HP:0034221	Abnormal temporal lobe morphology	26277	TINF2	OMIM:268130
HP:0034221	Abnormal temporal lobe morphology	26277	TINF2	OMIM:613990
HP:0034221	Abnormal temporal lobe morphology	26277	TINF2	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	26277	TINF2	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	6309	SC5D	ORPHA:46059
HP:0034221	Abnormal temporal lobe morphology	3265	HRAS	ORPHA:2612
HP:0034221	Abnormal temporal lobe morphology	3845	KRAS	ORPHA:2612
HP:0034221	Abnormal temporal lobe morphology	3845	KRAS	ORPHA:2396
HP:0034221	Abnormal temporal lobe morphology	4893	NRAS	ORPHA:2612
HP:0034221	Abnormal temporal lobe morphology	8496	PPFIBP1	OMIM:620024
HP:0034221	Abnormal temporal lobe morphology	1436	CSF1R	OMIM:618476
HP:0034221	Abnormal temporal lobe morphology	5649	RELN	ORPHA:89844
HP:0034221	Abnormal temporal lobe morphology	10300	KATNB1	ORPHA:89844
HP:0034221	Abnormal temporal lobe morphology	54820	NDE1	ORPHA:89844
HP:0034221	Abnormal temporal lobe morphology	51741	WWOX	OMIM:616211
HP:0034221	Abnormal temporal lobe morphology	65082	VPS33A	OMIM:617303
HP:0034221	Abnormal temporal lobe morphology	65082	VPS33A	ORPHA:505248
HP:0034221	Abnormal temporal lobe morphology	5053	PAH	OMIM:261600
HP:0034221	Abnormal temporal lobe morphology	5053	PAH	ORPHA:79254
HP:0034221	Abnormal temporal lobe morphology	55651	NHP2	OMIM:613987
HP:0034221	Abnormal temporal lobe morphology	55651	NHP2	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	389827	MYMK	ORPHA:1358
HP:0034221	Abnormal temporal lobe morphology	101929726	MYMX	ORPHA:1358
HP:0034221	Abnormal temporal lobe morphology	56975	FAM20C	OMIM:259775
HP:0034221	Abnormal temporal lobe morphology	79709	COLGALT1	OMIM:618360
HP:0034221	Abnormal temporal lobe morphology	8671	SLC4A4	OMIM:604278
HP:0034221	Abnormal temporal lobe morphology	54	ACP5	OMIM:607944
HP:0034221	Abnormal temporal lobe morphology	54	ACP5	ORPHA:1855
HP:0034221	Abnormal temporal lobe morphology	889	KRIT1	OMIM:116860
HP:0034221	Abnormal temporal lobe morphology	103	ADAR	OMIM:615010
HP:0034221	Abnormal temporal lobe morphology	103	ADAR	ORPHA:51
HP:0034221	Abnormal temporal lobe morphology	3394	IRF8	OMIM:226990
HP:0034221	Abnormal temporal lobe morphology	11274	USP18	OMIM:617397
HP:0034221	Abnormal temporal lobe morphology	2068	ERCC2	ORPHA:1466
HP:0034221	Abnormal temporal lobe morphology	2073	ERCC5	ORPHA:1466
HP:0034221	Abnormal temporal lobe morphology	6773	STAT2	OMIM:618886
HP:0034221	Abnormal temporal lobe morphology	2260	FGFR1	ORPHA:2396
HP:0034221	Abnormal temporal lobe morphology	3117	HLA-DQA1	OMIM:212750
HP:0034221	Abnormal temporal lobe morphology	3119	HLA-DQB1	OMIM:212750
HP:0034221	Abnormal temporal lobe morphology	100506658	OCLN	ORPHA:1229
HP:0034221	Abnormal temporal lobe morphology	100506658	OCLN	OMIM:251290
HP:0034221	Abnormal temporal lobe morphology	1280	COL2A1	ORPHA:85198
HP:0034221	Abnormal temporal lobe morphology	8635	RNASET2	OMIM:612951
HP:0034221	Abnormal temporal lobe morphology	139285	AMER1	ORPHA:2780
HP:0034221	Abnormal temporal lobe morphology	4644	MYO5A	ORPHA:79476
HP:0034221	Abnormal temporal lobe morphology	1499	CTNNB1	ORPHA:54595
HP:0034221	Abnormal temporal lobe morphology	673	BRAF	ORPHA:54595
HP:0034221	Abnormal temporal lobe morphology	4953	ODC1	OMIM:619075
HP:0034221	Abnormal temporal lobe morphology	538	ATP7A	ORPHA:198
HP:0034221	Abnormal temporal lobe morphology	5167	ENPP1	ORPHA:51608
HP:0034221	Abnormal temporal lobe morphology	5167	ENPP1	ORPHA:758
HP:0034221	Abnormal temporal lobe morphology	7249	TSC2	OMIM:613254
HP:0034221	Abnormal temporal lobe morphology	3458	IFNG	OMIM:613254
HP:0034221	Abnormal temporal lobe morphology	5189	PEX1	ORPHA:3220
HP:0034221	Abnormal temporal lobe morphology	5190	PEX6	ORPHA:3220
HP:0034221	Abnormal temporal lobe morphology	10056	FARSB	OMIM:613658
HP:0034221	Abnormal temporal lobe morphology	1836	SLC26A2	ORPHA:628
HP:0034221	Abnormal temporal lobe morphology	2776	GNAQ	ORPHA:624
HP:0034221	Abnormal temporal lobe morphology	2776	GNAQ	ORPHA:3205
HP:0034221	Abnormal temporal lobe morphology	26137	ZBTB20	OMIM:259050
HP:0034221	Abnormal temporal lobe morphology	6628	SNRPB	ORPHA:1393
HP:0034221	Abnormal temporal lobe morphology	57169	ZNFX1	OMIM:619644
HP:0034221	Abnormal temporal lobe morphology	1605	DAG1	OMIM:616538
HP:0034221	Abnormal temporal lobe morphology	7248	TSC1	OMIM:191100
HP:0034221	Abnormal temporal lobe morphology	6598	SMARCB1	ORPHA:99966
HP:0034221	Abnormal temporal lobe morphology	326	AIRE	ORPHA:3453
HP:0034221	Abnormal temporal lobe morphology	8643	PTCH2	ORPHA:377
HP:0034221	Abnormal temporal lobe morphology	51684	SUFU	ORPHA:377
HP:0034221	Abnormal temporal lobe morphology	4256	MGP	OMIM:245150
HP:0034221	Abnormal temporal lobe morphology	9365	KL	OMIM:617994
HP:0034221	Abnormal temporal lobe morphology	351	APP	ORPHA:100006
HP:0034221	Abnormal temporal lobe morphology	5741	PTH	OMIM:146200
HP:0034221	Abnormal temporal lobe morphology	10312	TCIRG1	ORPHA:1782
HP:0034221	Abnormal temporal lobe morphology	55315	SLC29A3	ORPHA:1782
HP:0034221	Abnormal temporal lobe morphology	8792	TNFRSF11A	ORPHA:1782
HP:0034221	Abnormal temporal lobe morphology	51750	RTEL1	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	51750	RTEL1	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	65057	ACD	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	5073	PARN	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	5073	PARN	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	7015	TERT	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	7015	TERT	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	1736	DKC1	ORPHA:3322
HP:0034221	Abnormal temporal lobe morphology	1736	DKC1	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	84153	RNASEH2C	OMIM:610329
HP:0034221	Abnormal temporal lobe morphology	84153	RNASEH2C	ORPHA:51
HP:0034221	Abnormal temporal lobe morphology	1376	CPT2	ORPHA:228308
HP:0034221	Abnormal temporal lobe morphology	3735	KARS1	OMIM:619147
HP:0034221	Abnormal temporal lobe morphology	5860	QDPR	OMIM:261630
HP:0034221	Abnormal temporal lobe morphology	56160	NSMCE3	OMIM:617241
HP:0034221	Abnormal temporal lobe morphology	80169	CTC1	OMIM:612199
HP:0034221	Abnormal temporal lobe morphology	80169	CTC1	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	79650	USB1	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	55135	WRAP53	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	4869	NPM1	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	7012	TERC	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	55505	NOP10	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	7298	TYMS	ORPHA:1775
HP:0034221	Abnormal temporal lobe morphology	10535	RNASEH2A	OMIM:610333
HP:0034221	Abnormal temporal lobe morphology	10535	RNASEH2A	ORPHA:51
HP:0034221	Abnormal temporal lobe morphology	1188	CLCNKB	ORPHA:358
HP:0034221	Abnormal temporal lobe morphology	6559	SLC12A3	ORPHA:358
HP:0034221	Abnormal temporal lobe morphology	8803	SUCLA2	ORPHA:1933
HP:0034221	Abnormal temporal lobe morphology	5727	PTCH1	ORPHA:77301
HP:0034221	Abnormal temporal lobe morphology	5727	PTCH1	OMIM:109400
HP:0034221	Abnormal temporal lobe morphology	4921	DDR2	OMIM:271665
HP:0034221	Abnormal temporal lobe morphology	1301	COL11A1	OMIM:154780
HP:0034221	Abnormal temporal lobe morphology	368	ABCC6	OMIM:177850
HP:0034221	Abnormal temporal lobe morphology	57688	ZSWIM6	OMIM:603671
HP:0034221	Abnormal temporal lobe morphology	1893	ECM1	OMIM:247100
HP:0034221	Abnormal temporal lobe morphology	1075	CTSC	OMIM:245000
HP:0034221	Abnormal temporal lobe morphology	6513	SLC2A1	OMIM:608885
HP:0034221	Abnormal temporal lobe morphology	6513	SLC2A1	ORPHA:168577
HP:0034221	Abnormal temporal lobe morphology	2067	ERCC1	ORPHA:90322
HP:0034221	Abnormal temporal lobe morphology	2261	FGFR3	OMIM:187601
HP:0034222	Temporal lobe dysplasia	2261	FGFR3	OMIM:187601
HP:0034226	Champagne cork sign	2261	FGFR3	OMIM:187600
HP:0034227	Aortic isthmus hypoplasia	1387	CREBBP	OMIM:180849
HP:0034227	Aortic isthmus hypoplasia	2033	EP300	OMIM:180849
HP:0008372	Abnormality of vitamin A metabolism	4547	MTTP	ORPHA:14
HP:0008372	Abnormality of vitamin A metabolism	123264	SLC51B	OMIM:619481
HP:0008372	Abnormality of vitamin A metabolism	2859	GPR35	ORPHA:171
HP:0008372	Abnormality of vitamin A metabolism	10507	SEMA4D	ORPHA:171
HP:0008372	Abnormality of vitamin A metabolism	4485	MST1	ORPHA:171
HP:0008372	Abnormality of vitamin A metabolism	6925	TCF4	ORPHA:171
HP:0008372	Abnormality of vitamin A metabolism	54914	FOCAD	OMIM:619991
HP:0008372	Abnormality of vitamin A metabolism	53630	BCO1	OMIM:115300
HP:0008372	Abnormality of vitamin A metabolism	57704	GBA2	ORPHA:352641
HP:0008372	Abnormality of vitamin A metabolism	338	APOB	OMIM:615558
HP:0008372	Abnormality of vitamin A metabolism	10056	FARSB	OMIM:613658
HP:0008372	Abnormality of vitamin A metabolism	199221	DZIP1L	ORPHA:731
HP:0008372	Abnormality of vitamin A metabolism	5314	PKHD1	ORPHA:731
HP:0008372	Abnormality of vitamin A metabolism	134218	DNAJC21	ORPHA:811
HP:0008372	Abnormality of vitamin A metabolism	79631	EFL1	ORPHA:811
HP:0008372	Abnormality of vitamin A metabolism	51119	SBDS	ORPHA:811
HP:0008372	Abnormality of vitamin A metabolism	6729	SRP54	ORPHA:811
HP:0008372	Abnormality of vitamin A metabolism	1581	CYP7A1	ORPHA:209902
HP:0008371	Abnormal metatarsal ossification	2316	FLNA	OMIM:304120
HP:0008373	Puberty and gonadal disorders	4204	MECP2	OMIM:300055
HP:0008373	Puberty and gonadal disorders	5424	POLD1	OMIM:615381
HP:0008373	Puberty and gonadal disorders	2260	FGFR1	ORPHA:432
HP:0008373	Puberty and gonadal disorders	2260	FGFR1	OMIM:147950
HP:0008373	Puberty and gonadal disorders	2260	FGFR1	ORPHA:478
HP:0008373	Puberty and gonadal disorders	81848	SPRY4	ORPHA:432
HP:0008373	Puberty and gonadal disorders	81848	SPRY4	OMIM:615266
HP:0008373	Puberty and gonadal disorders	81848	SPRY4	OMIM:146110
HP:0008373	Puberty and gonadal disorders	81848	SPRY4	ORPHA:478
HP:0008373	Puberty and gonadal disorders	128674	PROKR2	ORPHA:432
HP:0008373	Puberty and gonadal disorders	128674	PROKR2	OMIM:244200
HP:0008373	Puberty and gonadal disorders	128674	PROKR2	ORPHA:478
HP:0008373	Puberty and gonadal disorders	2253	FGF8	ORPHA:432
HP:0008373	Puberty and gonadal disorders	2253	FGF8	OMIM:612702
HP:0008373	Puberty and gonadal disorders	2253	FGF8	ORPHA:478
HP:0008373	Puberty and gonadal disorders	60675	PROK2	ORPHA:432
HP:0008373	Puberty and gonadal disorders	60675	PROK2	OMIM:610628
HP:0008373	Puberty and gonadal disorders	60675	PROK2	ORPHA:478
HP:0008373	Puberty and gonadal disorders	55636	CHD7	ORPHA:432
HP:0008373	Puberty and gonadal disorders	55636	CHD7	OMIM:612370
HP:0008373	Puberty and gonadal disorders	55636	CHD7	ORPHA:138
HP:0008373	Puberty and gonadal disorders	55636	CHD7	OMIM:214800
HP:0008373	Puberty and gonadal disorders	55636	CHD7	ORPHA:478
HP:0008373	Puberty and gonadal disorders	6870	TACR3	ORPHA:432
HP:0008373	Puberty and gonadal disorders	6870	TACR3	OMIM:614840
HP:0008373	Puberty and gonadal disorders	6870	TACR3	ORPHA:478
HP:0008373	Puberty and gonadal disorders	1848	DUSP6	ORPHA:432
HP:0008373	Puberty and gonadal disorders	1848	DUSP6	OMIM:615269
HP:0008373	Puberty and gonadal disorders	1848	DUSP6	OMIM:146110
HP:0008373	Puberty and gonadal disorders	1848	DUSP6	ORPHA:478
HP:0008373	Puberty and gonadal disorders	26012	NSMF	ORPHA:432
HP:0008373	Puberty and gonadal disorders	26012	NSMF	OMIM:614838
HP:0008373	Puberty and gonadal disorders	55717	WDR11	ORPHA:432
HP:0008373	Puberty and gonadal disorders	55717	WDR11	OMIM:146110
HP:0008373	Puberty and gonadal disorders	55717	WDR11	OMIM:614858
HP:0008373	Puberty and gonadal disorders	55717	WDR11	ORPHA:478
HP:0008373	Puberty and gonadal disorders	9394	HS6ST1	ORPHA:432
HP:0008373	Puberty and gonadal disorders	9394	HS6ST1	ORPHA:478
HP:0008373	Puberty and gonadal disorders	2796	GNRH1	ORPHA:432
HP:0008373	Puberty and gonadal disorders	2796	GNRH1	OMIM:614841
HP:0008373	Puberty and gonadal disorders	2796	GNRH1	OMIM:146110
HP:0008373	Puberty and gonadal disorders	2798	GNRHR	ORPHA:432
HP:0008373	Puberty and gonadal disorders	2798	GNRHR	OMIM:146110
HP:0008373	Puberty and gonadal disorders	84634	KISS1R	ORPHA:432
HP:0008373	Puberty and gonadal disorders	84634	KISS1R	OMIM:614837
HP:0008373	Puberty and gonadal disorders	6866	TAC3	ORPHA:432
HP:0008373	Puberty and gonadal disorders	6866	TAC3	OMIM:614839
HP:0008373	Puberty and gonadal disorders	8822	FGF17	ORPHA:432
HP:0008373	Puberty and gonadal disorders	8822	FGF17	OMIM:146110
HP:0008373	Puberty and gonadal disorders	8822	FGF17	ORPHA:478
HP:0008373	Puberty and gonadal disorders	3814	KISS1	ORPHA:432
HP:0008373	Puberty and gonadal disorders	3814	KISS1	OMIM:614842
HP:0008373	Puberty and gonadal disorders	5888	RAD51	ORPHA:238722
HP:0008373	Puberty and gonadal disorders	10126	DNAL4	ORPHA:238722
HP:0008373	Puberty and gonadal disorders	9423	NTN1	ORPHA:238722
HP:0008373	Puberty and gonadal disorders	1630	DCC	ORPHA:238722
HP:0008373	Puberty and gonadal disorders	1630	DCC	ORPHA:478
HP:0008373	Puberty and gonadal disorders	4558	MT-TF	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4572	MT-TQ	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4512	MT-CO1	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4513	MT-CO2	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4514	MT-CO3	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4578	MT-TW	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4540	MT-ND5	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4541	MT-ND6	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4535	MT-ND1	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4538	MT-ND4	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4567	MT-TL1	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4574	MT-TS1	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4575	MT-TS2	ORPHA:550
HP:0008373	Puberty and gonadal disorders	4564	MT-TH	ORPHA:550
HP:0008373	Puberty and gonadal disorders	55703	POLR3B	OMIM:614381
HP:0008373	Puberty and gonadal disorders	55703	POLR3B	OMIM:607694
HP:0008373	Puberty and gonadal disorders	51728	POLR3K	OMIM:619310
HP:0008373	Puberty and gonadal disorders	6938	TCF12	OMIM:619718
HP:0008373	Puberty and gonadal disorders	100151683	RNU4ATAC	ORPHA:353298
HP:0008373	Puberty and gonadal disorders	148738	HJV	OMIM:602390
HP:0008373	Puberty and gonadal disorders	8626	TP63	OMIM:604292
HP:0008373	Puberty and gonadal disorders	7681	MKRN3	OMIM:176270
HP:0008373	Puberty and gonadal disorders	3653	IPW	OMIM:176270
HP:0008373	Puberty and gonadal disorders	54551	MAGEL2	OMIM:176270
HP:0008373	Puberty and gonadal disorders	54551	MAGEL2	ORPHA:177904
HP:0008373	Puberty and gonadal disorders	54551	MAGEL2	ORPHA:177901
HP:0008373	Puberty and gonadal disorders	54551	MAGEL2	ORPHA:177910
HP:0008373	Puberty and gonadal disorders	54551	MAGEL2	ORPHA:98754
HP:0008373	Puberty and gonadal disorders	791114	PWRN1	OMIM:176270
HP:0008373	Puberty and gonadal disorders	100033413	SNORD116-1	OMIM:176270
HP:0008373	Puberty and gonadal disorders	8924	HERC2	OMIM:176270
HP:0008373	Puberty and gonadal disorders	145624	PWAR1	OMIM:176270
HP:0008373	Puberty and gonadal disorders	23742	NPAP1	OMIM:176270
HP:0008373	Puberty and gonadal disorders	338433	SNORD115-1	OMIM:176270
HP:0008373	Puberty and gonadal disorders	9150	CTDP1	OMIM:604168
HP:0008373	Puberty and gonadal disorders	9150	CTDP1	ORPHA:48431
HP:0008373	Puberty and gonadal disorders	2488	FSHB	ORPHA:52901
HP:0008373	Puberty and gonadal disorders	4221	MEN1	ORPHA:2965
HP:0008373	Puberty and gonadal disorders	64072	CDH23	ORPHA:2965
HP:0008373	Puberty and gonadal disorders	64072	CDH23	ORPHA:91347
HP:0008373	Puberty and gonadal disorders	9049	AIP	ORPHA:2965
HP:0008373	Puberty and gonadal disorders	9049	AIP	ORPHA:963
HP:0008373	Puberty and gonadal disorders	6492	SIM1	ORPHA:398079
HP:0008373	Puberty and gonadal disorders	1363	CPE	OMIM:619326
HP:0008373	Puberty and gonadal disorders	54476	RNF216	OMIM:212840
HP:0008373	Puberty and gonadal disorders	54476	RNF216	ORPHA:1173
HP:0008373	Puberty and gonadal disorders	25782	RAB3GAP2	OMIM:212720
HP:0008373	Puberty and gonadal disorders	25782	RAB3GAP2	ORPHA:1387
HP:0008373	Puberty and gonadal disorders	10908	PNPLA6	OMIM:275400
HP:0008373	Puberty and gonadal disorders	10908	PNPLA6	ORPHA:1180
HP:0008373	Puberty and gonadal disorders	10908	PNPLA6	ORPHA:1173
HP:0008373	Puberty and gonadal disorders	10908	PNPLA6	OMIM:215470
HP:0008373	Puberty and gonadal disorders	9723	SEMA3E	ORPHA:138
HP:0008373	Puberty and gonadal disorders	9723	SEMA3E	OMIM:146110
HP:0008373	Puberty and gonadal disorders	5428	POLG	ORPHA:298
HP:0008373	Puberty and gonadal disorders	1890	TYMP	ORPHA:298
HP:0008373	Puberty and gonadal disorders	3980	LIG3	ORPHA:298
HP:0008373	Puberty and gonadal disorders	50484	RRM2B	ORPHA:298
HP:0008373	Puberty and gonadal disorders	5980	REV3L	ORPHA:570
HP:0008373	Puberty and gonadal disorders	23129	PLXND1	ORPHA:570
HP:0008373	Puberty and gonadal disorders	6638	SNRPN	ORPHA:177904
HP:0008373	Puberty and gonadal disorders	6638	SNRPN	ORPHA:177901
HP:0008373	Puberty and gonadal disorders	6638	SNRPN	ORPHA:177910
HP:0008373	Puberty and gonadal disorders	6638	SNRPN	ORPHA:177907
HP:0008373	Puberty and gonadal disorders	6638	SNRPN	ORPHA:98754
HP:0008373	Puberty and gonadal disorders	4692	NDN	ORPHA:177904
HP:0008373	Puberty and gonadal disorders	4692	NDN	ORPHA:177901
HP:0008373	Puberty and gonadal disorders	4692	NDN	ORPHA:177910
HP:0008373	Puberty and gonadal disorders	4692	NDN	ORPHA:98754
HP:0008373	Puberty and gonadal disorders	4948	OCA2	ORPHA:177904
HP:0008373	Puberty and gonadal disorders	4948	OCA2	ORPHA:177901
HP:0008373	Puberty and gonadal disorders	4948	OCA2	ORPHA:98754
HP:0008373	Puberty and gonadal disorders	1108	CHD4	OMIM:617159
HP:0008373	Puberty and gonadal disorders	55366	LGR4	OMIM:619613
HP:0008373	Puberty and gonadal disorders	83550	GPR101	ORPHA:963
HP:0008373	Puberty and gonadal disorders	5422	POLA1	OMIM:301030
HP:0008373	Puberty and gonadal disorders	23347	SMCHD1	OMIM:603457
HP:0008373	Puberty and gonadal disorders	23312	DMXL2	OMIM:616113
HP:0008373	Puberty and gonadal disorders	23312	DMXL2	ORPHA:453533
HP:0008373	Puberty and gonadal disorders	558	AXL	OMIM:146110
HP:0008373	Puberty and gonadal disorders	10011	SRA1	OMIM:146110
HP:0008373	Puberty and gonadal disorders	285025	CCDC141	OMIM:146110
HP:0008373	Puberty and gonadal disorders	285025	CCDC141	ORPHA:478
HP:0008373	Puberty and gonadal disorders	389549	FEZF1	OMIM:146110
HP:0008373	Puberty and gonadal disorders	389549	FEZF1	ORPHA:478
HP:0008373	Puberty and gonadal disorders	4990	SIX6	OMIM:206900
HP:0008373	Puberty and gonadal disorders	6657	SOX2	OMIM:206900
HP:0008373	Puberty and gonadal disorders	3077	HFE	OMIM:235200
HP:0008373	Puberty and gonadal disorders	3077	HFE	ORPHA:465508
HP:0008373	Puberty and gonadal disorders	650	BMP2	OMIM:235200
HP:0008373	Puberty and gonadal disorders	1499	CTNNB1	ORPHA:54595
HP:0008373	Puberty and gonadal disorders	673	BRAF	ORPHA:54595
HP:0008373	Puberty and gonadal disorders	3293	HSD17B3	ORPHA:752
HP:0008373	Puberty and gonadal disorders	55131	RBM28	ORPHA:157954
HP:0008373	Puberty and gonadal disorders	55131	RBM28	OMIM:612079
HP:0008373	Puberty and gonadal disorders	5626	PROP1	ORPHA:226307
HP:0008373	Puberty and gonadal disorders	5626	PROP1	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	5626	PROP1	ORPHA:90695
HP:0008373	Puberty and gonadal disorders	89884	LHX4	ORPHA:226307
HP:0008373	Puberty and gonadal disorders	89884	LHX4	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	8022	LHX3	ORPHA:226307
HP:0008373	Puberty and gonadal disorders	5449	POU1F1	ORPHA:226307
HP:0008373	Puberty and gonadal disorders	5449	POU1F1	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	8820	HESX1	ORPHA:226307
HP:0008373	Puberty and gonadal disorders	8820	HESX1	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	8820	HESX1	ORPHA:478
HP:0008373	Puberty and gonadal disorders	6804	STX1A	ORPHA:904
HP:0008373	Puberty and gonadal disorders	7461	CLIP2	ORPHA:904
HP:0008373	Puberty and gonadal disorders	84277	DNAJC30	ORPHA:904
HP:0008373	Puberty and gonadal disorders	8468	FKBP6	ORPHA:904
HP:0008373	Puberty and gonadal disorders	5982	RFC2	ORPHA:904
HP:0008373	Puberty and gonadal disorders	2969	GTF2I	ORPHA:904
HP:0008373	Puberty and gonadal disorders	3984	LIMK1	ORPHA:904
HP:0008373	Puberty and gonadal disorders	9569	GTF2IRD1	ORPHA:904
HP:0008373	Puberty and gonadal disorders	155382	VPS37D	ORPHA:904
HP:0008373	Puberty and gonadal disorders	155368	METTL27	ORPHA:904
HP:0008373	Puberty and gonadal disorders	114049	BUD23	ORPHA:904
HP:0008373	Puberty and gonadal disorders	7458	EIF4H	ORPHA:904
HP:0008373	Puberty and gonadal disorders	84163	GTF2IRD2	ORPHA:904
HP:0008373	Puberty and gonadal disorders	9275	BCL7B	ORPHA:904
HP:0008373	Puberty and gonadal disorders	26608	TBL2	ORPHA:904
HP:0008373	Puberty and gonadal disorders	653361	NCF1	ORPHA:904
HP:0008373	Puberty and gonadal disorders	135886	TMEM270	ORPHA:904
HP:0008373	Puberty and gonadal disorders	51085	MLXIPL	ORPHA:904
HP:0008373	Puberty and gonadal disorders	9031	BAZ1B	ORPHA:904
HP:0008373	Puberty and gonadal disorders	2006	ELN	ORPHA:904
HP:0008373	Puberty and gonadal disorders	8314	BAP1	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	4771	NF2	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	6598	SMARCB1	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	5155	PDGFB	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	84231	TRAF7	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	6608	SMO	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	207	AKT1	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	5290	PIK3CA	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	7015	TERT	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	51684	SUFU	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	51684	SUFU	ORPHA:377
HP:0008373	Puberty and gonadal disorders	6605	SMARCE1	ORPHA:2495
HP:0008373	Puberty and gonadal disorders	286	ANK1	ORPHA:251066
HP:0008373	Puberty and gonadal disorders	7036	TFR2	OMIM:604250
HP:0008373	Puberty and gonadal disorders	11128	POLR3A	ORPHA:447896
HP:0008373	Puberty and gonadal disorders	11128	POLR3A	ORPHA:3455
HP:0008373	Puberty and gonadal disorders	11128	POLR3A	OMIM:607694
HP:0008373	Puberty and gonadal disorders	2736	GLI2	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	3170	FOXA2	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	5015	OTX2	ORPHA:95494
HP:0008373	Puberty and gonadal disorders	190	NR0B1	OMIM:300200
HP:0008373	Puberty and gonadal disorders	190	NR0B1	ORPHA:242
HP:0008373	Puberty and gonadal disorders	3972	LHB	OMIM:228300
HP:0008373	Puberty and gonadal disorders	59336	PRDM13	OMIM:619761
HP:0008373	Puberty and gonadal disorders	81887	LAS1L	ORPHA:3459
HP:0008373	Puberty and gonadal disorders	55869	HDAC8	ORPHA:3459
HP:0008373	Puberty and gonadal disorders	5373	PMM2	ORPHA:79318
HP:0008373	Puberty and gonadal disorders	5727	PTCH1	ORPHA:377
HP:0008373	Puberty and gonadal disorders	8643	PTCH2	ORPHA:377
HP:0008373	Puberty and gonadal disorders	2706	GJB2	ORPHA:494
HP:0008373	Puberty and gonadal disorders	5122	PCSK1	OMIM:600955
HP:0008373	Puberty and gonadal disorders	22930	RAB3GAP1	ORPHA:1387
HP:0008373	Puberty and gonadal disorders	22930	RAB3GAP1	OMIM:619420
HP:0008373	Puberty and gonadal disorders	654	BMP6	ORPHA:465508
HP:0008373	Puberty and gonadal disorders	22800	RRAS2	ORPHA:648
HP:0008373	Puberty and gonadal disorders	867	CBL	ORPHA:648
HP:0008373	Puberty and gonadal disorders	8216	LZTR1	ORPHA:648
HP:0008373	Puberty and gonadal disorders	6016	RIT1	ORPHA:648
HP:0008373	Puberty and gonadal disorders	6237	RRAS	ORPHA:648
HP:0008373	Puberty and gonadal disorders	5894	RAF1	ORPHA:648
HP:0008373	Puberty and gonadal disorders	22808	MRAS	ORPHA:648
HP:0008373	Puberty and gonadal disorders	3845	KRAS	ORPHA:648
HP:0008373	Puberty and gonadal disorders	200734	SPRED2	ORPHA:648
HP:0008373	Puberty and gonadal disorders	4893	NRAS	ORPHA:648
HP:0008373	Puberty and gonadal disorders	6654	SOS1	ORPHA:648
HP:0008373	Puberty and gonadal disorders	6655	SOS2	ORPHA:648
HP:0008373	Puberty and gonadal disorders	5781	PTPN11	ORPHA:648
HP:0008373	Puberty and gonadal disorders	5922	RASA2	ORPHA:648
HP:0008373	Puberty and gonadal disorders	3730	ANOS1	OMIM:308700
HP:0008373	Puberty and gonadal disorders	3730	ANOS1	ORPHA:478
HP:0008373	Puberty and gonadal disorders	1761	DMRT1	ORPHA:242
HP:0008373	Puberty and gonadal disorders	6662	SOX9	ORPHA:242
HP:0008373	Puberty and gonadal disorders	84733	CBX2	ORPHA:242
HP:0008373	Puberty and gonadal disorders	50846	DHH	ORPHA:242
HP:0008373	Puberty and gonadal disorders	4214	MAP3K1	ORPHA:242
HP:0008373	Puberty and gonadal disorders	2516	NR5A1	ORPHA:242
HP:0008373	Puberty and gonadal disorders	7490	WT1	ORPHA:242
HP:0008373	Puberty and gonadal disorders	57647	DHX37	ORPHA:242
HP:0008373	Puberty and gonadal disorders	6736	SRY	ORPHA:242
HP:0008373	Puberty and gonadal disorders	80067	DCAF17	OMIM:241080
HP:0008373	Puberty and gonadal disorders	10371	SEMA3A	ORPHA:478
HP:0008373	Puberty and gonadal disorders	23767	FLRT3	ORPHA:478
HP:0008373	Puberty and gonadal disorders	79625	NDNF	ORPHA:478
HP:0008373	Puberty and gonadal disorders	54756	IL17RD	ORPHA:478
HP:0008373	Puberty and gonadal disorders	6663	SOX10	ORPHA:478
HP:0008373	Puberty and gonadal disorders	6658	SOX3	ORPHA:90695
HP:0008373	Puberty and gonadal disorders	472	ATM	OMIM:208900
HP:0008373	Puberty and gonadal disorders	652	BMP4	OMIM:607932
HP:0008373	Puberty and gonadal disorders	5618	PRLR	ORPHA:397685
HP:0008373	Puberty and gonadal disorders	326	AIRE	OMIM:240300
HP:0008373	Puberty and gonadal disorders	3479	IGF1	ORPHA:73272
HP:0008373	Puberty and gonadal disorders	5573	PRKAR1A	ORPHA:950
HP:0008373	Puberty and gonadal disorders	5573	PRKAR1A	OMIM:101800
HP:0008373	Puberty and gonadal disorders	5573	PRKAR1A	ORPHA:280651
HP:0008373	Puberty and gonadal disorders	5144	PDE4D	ORPHA:950
HP:0008373	Puberty and gonadal disorders	5144	PDE4D	ORPHA:280651
HP:0008373	Puberty and gonadal disorders	27183	VPS4A	OMIM:619273
HP:0008373	Puberty and gonadal disorders	8450	CUL4B	OMIM:300354
HP:0008373	Puberty and gonadal disorders	8450	CUL4B	ORPHA:85293
HP:0008373	Puberty and gonadal disorders	92840	REEP6	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6094	ROM1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6017	RLBP1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	7401	CLRN1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	24	ABCA4	ORPHA:791
HP:0008373	Puberty and gonadal disorders	130557	ZNF513	ORPHA:791
HP:0008373	Puberty and gonadal disorders	582	BBS1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	582	BBS1	OMIM:209900
HP:0008373	Puberty and gonadal disorders	582	BBS1	ORPHA:110
HP:0008373	Puberty and gonadal disorders	92211	CDHR1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	23568	ARL2BP	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6121	RPE65	ORPHA:791
HP:0008373	Puberty and gonadal disorders	54806	AHI1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6101	RP1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	3419	IDH3A	ORPHA:791
HP:0008373	Puberty and gonadal disorders	4751	NEK2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	346007	EYS	ORPHA:791
HP:0008373	Puberty and gonadal disorders	8100	IFT88	ORPHA:791
HP:0008373	Puberty and gonadal disorders	23020	SNRNP200	ORPHA:791
HP:0008373	Puberty and gonadal disorders	762	CA4	ORPHA:791
HP:0008373	Puberty and gonadal disorders	138050	HGSNAT	ORPHA:791
HP:0008373	Puberty and gonadal disorders	196	AHR	ORPHA:791
HP:0008373	Puberty and gonadal disorders	3614	IMPDH1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	123016	TTC8	ORPHA:791
HP:0008373	Puberty and gonadal disorders	123016	TTC8	ORPHA:110
HP:0008373	Puberty and gonadal disorders	123016	TTC8	OMIM:615985
HP:0008373	Puberty and gonadal disorders	6103	RPGR	ORPHA:791
HP:0008373	Puberty and gonadal disorders	1406	CRX	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5148	PDE6G	ORPHA:791
HP:0008373	Puberty and gonadal disorders	26160	IFT172	ORPHA:791
HP:0008373	Puberty and gonadal disorders	26160	IFT172	ORPHA:110
HP:0008373	Puberty and gonadal disorders	26121	PRPF31	ORPHA:791
HP:0008373	Puberty and gonadal disorders	583	BBS2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	583	BBS2	ORPHA:110
HP:0008373	Puberty and gonadal disorders	583	BBS2	OMIM:615981
HP:0008373	Puberty and gonadal disorders	4117	MAK	ORPHA:791
HP:0008373	Puberty and gonadal disorders	25794	FSCN2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	375298	CERKL	ORPHA:791
HP:0008373	Puberty and gonadal disorders	3420	IDH3B	ORPHA:791
HP:0008373	Puberty and gonadal disorders	57670	KIAA1549	ORPHA:791
HP:0008373	Puberty and gonadal disorders	7275	TUB	ORPHA:791
HP:0008373	Puberty and gonadal disorders	24148	PRPF6	ORPHA:791
HP:0008373	Puberty and gonadal disorders	23418	CRB1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	10461	MERTK	ORPHA:791
HP:0008373	Puberty and gonadal disorders	57709	SLC7A14	ORPHA:791
HP:0008373	Puberty and gonadal disorders	768206	PRCD	ORPHA:791
HP:0008373	Puberty and gonadal disorders	7399	USH2A	ORPHA:791
HP:0008373	Puberty and gonadal disorders	23370	ARHGEF18	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5949	RBP3	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6010	RHO	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6100	RP9	ORPHA:791
HP:0008373	Puberty and gonadal disorders	10002	NR2E3	ORPHA:791
HP:0008373	Puberty and gonadal disorders	9227	LRAT	ORPHA:791
HP:0008373	Puberty and gonadal disorders	84140	FAM161A	ORPHA:791
HP:0008373	Puberty and gonadal disorders	55812	SPATA7	ORPHA:791
HP:0008373	Puberty and gonadal disorders	55624	POMGNT1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	79797	ZNF408	ORPHA:791
HP:0008373	Puberty and gonadal disorders	403	ARL3	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5145	PDE6A	ORPHA:791
HP:0008373	Puberty and gonadal disorders	10210	TOPORS	ORPHA:791
HP:0008373	Puberty and gonadal disorders	8842	PROM1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	9128	PRPF4	ORPHA:791
HP:0008373	Puberty and gonadal disorders	145226	RDH12	ORPHA:791
HP:0008373	Puberty and gonadal disorders	50939	IMPG2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	8481	OFD1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	49855	SCAPER	ORPHA:791
HP:0008373	Puberty and gonadal disorders	49855	SCAPER	ORPHA:110
HP:0008373	Puberty and gonadal disorders	9742	IFT140	ORPHA:791
HP:0008373	Puberty and gonadal disorders	2979	GUCA1B	ORPHA:791
HP:0008373	Puberty and gonadal disorders	1259	CNGA1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	1258	CNGB1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	60509	AGBL5	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5961	PRPH2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	388939	PCARE	ORPHA:791
HP:0008373	Puberty and gonadal disorders	7439	BEST1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	9785	DHX38	ORPHA:791
HP:0008373	Puberty and gonadal disorders	7287	TULP1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5995	RGR	ORPHA:791
HP:0008373	Puberty and gonadal disorders	9129	PRPF3	ORPHA:791
HP:0008373	Puberty and gonadal disorders	55975	KLHL7	ORPHA:791
HP:0008373	Puberty and gonadal disorders	3617	IMPG1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	94137	RP1L1	ORPHA:791
HP:0008373	Puberty and gonadal disorders	5158	PDE6B	ORPHA:791
HP:0008373	Puberty and gonadal disorders	6102	RP2	ORPHA:791
HP:0008373	Puberty and gonadal disorders	55857	KIZ	ORPHA:791
HP:0008373	Puberty and gonadal disorders	64218	SEMA4A	ORPHA:791
HP:0008373	Puberty and gonadal disorders	4901	NRL	ORPHA:791
HP:0008373	Puberty and gonadal disorders	157657	CFAP418	ORPHA:791
HP:0008373	Puberty and gonadal disorders	157657	CFAP418	ORPHA:110
HP:0008373	Puberty and gonadal disorders	10594	PRPF8	ORPHA:791
HP:0008373	Puberty and gonadal disorders	84100	ARL6	ORPHA:791
HP:0008373	Puberty and gonadal disorders	84100	ARL6	OMIM:209900
HP:0008373	Puberty and gonadal disorders	84100	ARL6	ORPHA:110
HP:0008373	Puberty and gonadal disorders	6295	SAG	ORPHA:791
HP:0008373	Puberty and gonadal disorders	79947	DHDDS	ORPHA:791
HP:0008373	Puberty and gonadal disorders	83932	SPRTN	OMIM:616200
HP:0008373	Puberty and gonadal disorders	11020	IFT27	OMIM:615996
HP:0008373	Puberty and gonadal disorders	11020	IFT27	ORPHA:110
HP:0008373	Puberty and gonadal disorders	55240	STEAP3	OMIM:615234
HP:0008373	Puberty and gonadal disorders	55240	STEAP3	ORPHA:300298
HP:0008373	Puberty and gonadal disorders	10806	SDCCAG8	OMIM:615993
HP:0008373	Puberty and gonadal disorders	10806	SDCCAG8	ORPHA:110
HP:0008373	Puberty and gonadal disorders	54585	LZTFL1	OMIM:615994
HP:0008373	Puberty and gonadal disorders	54585	LZTFL1	ORPHA:110
HP:0008373	Puberty and gonadal disorders	9401	RECQL4	OMIM:268400
HP:0008373	Puberty and gonadal disorders	7555	CNBP	OMIM:602668
HP:0008373	Puberty and gonadal disorders	9342	SNAP29	ORPHA:66631
HP:0008373	Puberty and gonadal disorders	7486	WRN	OMIM:277700
HP:0008373	Puberty and gonadal disorders	7486	WRN	ORPHA:902
HP:0008373	Puberty and gonadal disorders	5818	NECTIN1	ORPHA:3253
HP:0008373	Puberty and gonadal disorders	1760	DMPK	OMIM:160900
HP:0008373	Puberty and gonadal disorders	1161	ERCC8	OMIM:216400
HP:0008373	Puberty and gonadal disorders	4976	OPA1	ORPHA:98673
HP:0008373	Puberty and gonadal disorders	2068	ERCC2	ORPHA:1466
HP:0008373	Puberty and gonadal disorders	2068	ERCC2	OMIM:601675
HP:0008373	Puberty and gonadal disorders	2068	ERCC2	ORPHA:910
HP:0008373	Puberty and gonadal disorders	2067	ERCC1	ORPHA:1466
HP:0008373	Puberty and gonadal disorders	2074	ERCC6	ORPHA:1466
HP:0008373	Puberty and gonadal disorders	2073	ERCC5	ORPHA:1466
HP:0008373	Puberty and gonadal disorders	2073	ERCC5	ORPHA:910
HP:0008373	Puberty and gonadal disorders	412	STS	ORPHA:281090
HP:0008373	Puberty and gonadal disorders	79140	CCDC28B	OMIM:209900
HP:0008373	Puberty and gonadal disorders	26146	TRAF3IP1	OMIM:616629
HP:0008373	Puberty and gonadal disorders	672	BRCA1	ORPHA:84
HP:0008373	Puberty and gonadal disorders	10459	MAD2L2	ORPHA:84
HP:0008373	Puberty and gonadal disorders	7516	XRCC2	ORPHA:84
HP:0008373	Puberty and gonadal disorders	29089	UBE2T	ORPHA:84
HP:0008373	Puberty and gonadal disorders	675	BRCA2	ORPHA:84
HP:0008373	Puberty and gonadal disorders	55120	FANCL	ORPHA:84
HP:0008373	Puberty and gonadal disorders	2188	FANCF	ORPHA:84
HP:0008373	Puberty and gonadal disorders	2189	FANCG	ORPHA:84
HP:0008373	Puberty and gonadal disorders	5889	RAD51C	ORPHA:84
HP:0008373	Puberty and gonadal disorders	55159	RFWD3	ORPHA:84
HP:0008373	Puberty and gonadal disorders	83990	BRIP1	ORPHA:84
HP:0008373	Puberty and gonadal disorders	57697	FANCM	ORPHA:84
HP:0008373	Puberty and gonadal disorders	79728	PALB2	ORPHA:84
HP:0008373	Puberty and gonadal disorders	84464	SLX4	ORPHA:84
HP:0008373	Puberty and gonadal disorders	2072	ERCC4	ORPHA:84
HP:0008373	Puberty and gonadal disorders	2072	ERCC4	ORPHA:910
HP:0008373	Puberty and gonadal disorders	55215	FANCI	ORPHA:84
HP:0008373	Puberty and gonadal disorders	215	ABCD1	OMIM:300100
HP:0008373	Puberty and gonadal disorders	55630	SLC39A4	OMIM:201100
HP:0008373	Puberty and gonadal disorders	617	BCS1L	OMIM:262000
HP:0008373	Puberty and gonadal disorders	617	BCS1L	ORPHA:123
HP:0008373	Puberty and gonadal disorders	2071	ERCC3	OMIM:610651
HP:0008373	Puberty and gonadal disorders	2071	ERCC3	ORPHA:910
HP:0008373	Puberty and gonadal disorders	26227	PHGDH	ORPHA:79351
HP:0008373	Puberty and gonadal disorders	57817	HAMP	ORPHA:79230
HP:0008373	Puberty and gonadal disorders	57817	HAMP	OMIM:613313
HP:0008373	Puberty and gonadal disorders	51763	INPP5K	ORPHA:559
HP:0008373	Puberty and gonadal disorders	92482	BBIP1	ORPHA:110
HP:0008373	Puberty and gonadal disorders	80184	CEP290	ORPHA:110
HP:0008373	Puberty and gonadal disorders	4867	NPHP1	ORPHA:110
HP:0008373	Puberty and gonadal disorders	51057	WDPCP	ORPHA:110
HP:0008373	Puberty and gonadal disorders	27241	BBS9	ORPHA:110
HP:0008373	Puberty and gonadal disorders	84984	CEP19	ORPHA:110
HP:0008373	Puberty and gonadal disorders	22954	TRIM32	ORPHA:110
HP:0008373	Puberty and gonadal disorders	22954	TRIM32	OMIM:615988
HP:0008373	Puberty and gonadal disorders	54903	MKS1	ORPHA:110
HP:0008373	Puberty and gonadal disorders	79738	BBS10	ORPHA:110
HP:0008373	Puberty and gonadal disorders	79738	BBS10	OMIM:615987
HP:0008373	Puberty and gonadal disorders	585	BBS4	ORPHA:110
HP:0008373	Puberty and gonadal disorders	585	BBS4	OMIM:615982
HP:0008373	Puberty and gonadal disorders	8195	MKKS	ORPHA:110
HP:0008373	Puberty and gonadal disorders	55212	BBS7	ORPHA:110
HP:0008373	Puberty and gonadal disorders	55212	BBS7	OMIM:615984
HP:0008373	Puberty and gonadal disorders	166379	BBS12	ORPHA:110
HP:0008373	Puberty and gonadal disorders	166379	BBS12	OMIM:615989
HP:0008373	Puberty and gonadal disorders	129880	BBS5	ORPHA:110
HP:0008373	Puberty and gonadal disorders	129880	BBS5	OMIM:615983
HP:0008373	Puberty and gonadal disorders	80173	IFT74	ORPHA:110
HP:0008373	Puberty and gonadal disorders	80173	IFT74	OMIM:617119
HP:0008373	Puberty and gonadal disorders	7874	USP7	ORPHA:500055
HP:0008373	Puberty and gonadal disorders	8879	SGPL1	OMIM:617575
HP:0008373	Puberty and gonadal disorders	9791	PTDSS1	ORPHA:2658
HP:0008373	Puberty and gonadal disorders	367	AR	OMIM:312300
HP:0008373	Puberty and gonadal disorders	5189	PEX1	ORPHA:3220
HP:0008373	Puberty and gonadal disorders	5190	PEX6	ORPHA:3220
HP:0008373	Puberty and gonadal disorders	5590	PRKCZ	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	2563	GABRD	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	23013	SPEN	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	8510	MMP23B	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	7798	LUZP1	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	6497	SKI	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	10630	PDPN	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	3339	HSPG2	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	10277	UBE4B	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	8514	KCNAB2	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	473	RERE	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	63976	PRDM16	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	54897	CASZ1	ORPHA:1606
HP:0008373	Puberty and gonadal disorders	493856	CISD2	ORPHA:3463
HP:0008373	Puberty and gonadal disorders	7040	TGFB1	ORPHA:1328
HP:0008373	Puberty and gonadal disorders	3043	HBB	ORPHA:231222
HP:0008373	Puberty and gonadal disorders	51124	IER3IP1	OMIM:614231
HP:0008373	Puberty and gonadal disorders	1028	CDKN1C	ORPHA:85173
HP:0008373	Puberty and gonadal disorders	5426	POLE	ORPHA:85173
HP:0008373	Puberty and gonadal disorders	5495	PPM1B	ORPHA:163693
HP:0008373	Puberty and gonadal disorders	6519	SLC3A1	ORPHA:163693
HP:0008373	Puberty and gonadal disorders	9581	PREPL	ORPHA:163693
HP:0008373	Puberty and gonadal disorders	79823	CAMKMT	ORPHA:163693
HP:0008373	Puberty and gonadal disorders	415	ARSL	OMIM:302950
HP:0008373	Puberty and gonadal disorders	2332	FMR1	ORPHA:261483
HP:0008373	Puberty and gonadal disorders	4193	MDM2	OMIM:618681
HP:0008373	Puberty and gonadal disorders	7157	TP53	OMIM:618165
HP:0008373	Puberty and gonadal disorders	546	ATRX	OMIM:309580
HP:0008373	Puberty and gonadal disorders	4621	MYH3	ORPHA:2990
HP:0008373	Puberty and gonadal disorders	1146	CHRNG	ORPHA:2990
HP:0008373	Puberty and gonadal disorders	84295	PHF6	ORPHA:127
HP:0008373	Puberty and gonadal disorders	60529	ALX4	ORPHA:228390
HP:0008373	Puberty and gonadal disorders	84168	ANTXR1	ORPHA:2067
HP:0008373	Puberty and gonadal disorders	56052	ALG1	OMIM:608540
HP:0008373	Puberty and gonadal disorders	5604	MAP2K1	OMIM:163950
HP:0008373	Puberty and gonadal disorders	4089	SMAD4	ORPHA:2588
HP:0008373	Puberty and gonadal disorders	7507	XPA	ORPHA:910
HP:0008373	Puberty and gonadal disorders	7508	XPC	ORPHA:910
HP:0008373	Puberty and gonadal disorders	1643	DDB2	ORPHA:910
HP:0008373	Puberty and gonadal disorders	64682	ANAPC1	ORPHA:221008
HP:0008373	Puberty and gonadal disorders	64374	SIL1	OMIM:248800
HP:0008373	Puberty and gonadal disorders	54809	SAMD9	OMIM:617053
HP:0008373	Puberty and gonadal disorders	9210	BMP15	OMIM:300510
HP:0008373	Puberty and gonadal disorders	2187	FANCB	OMIM:300514
HP:0008373	Puberty and gonadal disorders	4361	MRE11	ORPHA:251347
HP:0008373	Puberty and gonadal disorders	2592	GALT	OMIM:230400
HP:0008373	Puberty and gonadal disorders	23600	AMACR	OMIM:614307
HP:0008373	Puberty and gonadal disorders	4047	LSS	ORPHA:2850
HP:0008373	Puberty and gonadal disorders	197	AHSG	ORPHA:2850
HP:0008373	Puberty and gonadal disorders	3694	ITGB6	ORPHA:2850
HP:0008373	Puberty and gonadal disorders	3973	LHCGR	OMIM:238320
HP:0008373	Puberty and gonadal disorders	92667	MGME1	ORPHA:352447
HP:0008373	Puberty and gonadal disorders	92667	MGME1	OMIM:615084
HP:0008373	Puberty and gonadal disorders	55315	SLC29A3	OMIM:602782
HP:0008373	Puberty and gonadal disorders	26137	ZBTB20	OMIM:259050
HP:0008373	Puberty and gonadal disorders	54453	RIN2	ORPHA:217335
HP:0008373	Puberty and gonadal disorders	54453	RIN2	OMIM:613075
HP:0008373	Puberty and gonadal disorders	9533	POLR1C	ORPHA:88637
HP:0008373	Puberty and gonadal disorders	8878	SQSTM1	OMIM:617145
HP:0008373	Puberty and gonadal disorders	2175	FANCA	OMIM:227650
HP:0008373	Puberty and gonadal disorders	57122	NUP107	OMIM:618078
HP:0008373	Puberty and gonadal disorders	56652	TWNK	OMIM:616138
HP:0008373	Puberty and gonadal disorders	56652	TWNK	OMIM:271245
HP:0008373	Puberty and gonadal disorders	3952	LEP	ORPHA:66628
HP:0008373	Puberty and gonadal disorders	1588	CYP19A1	OMIM:613546
HP:0008373	Puberty and gonadal disorders	1588	CYP19A1	ORPHA:91
HP:0008373	Puberty and gonadal disorders	668	FOXL2	ORPHA:572333
HP:0008373	Puberty and gonadal disorders	2177	FANCD2	OMIM:227646
HP:0008373	Puberty and gonadal disorders	27235	COQ2	OMIM:607426
HP:0008373	Puberty and gonadal disorders	2176	FANCC	OMIM:227645
HP:0008373	Puberty and gonadal disorders	51081	MRPS7	OMIM:617872
HP:0008373	Puberty and gonadal disorders	9692	PRORP	OMIM:619737
HP:0008373	Puberty and gonadal disorders	8192	CLPP	OMIM:614129
HP:0008373	Puberty and gonadal disorders	3953	LEPR	OMIM:614963
HP:0008373	Puberty and gonadal disorders	3953	LEPR	ORPHA:179494
HP:0008373	Puberty and gonadal disorders	79184	BRCC3	ORPHA:280679
HP:0008373	Puberty and gonadal disorders	2778	GNAS	ORPHA:79443
HP:0008373	Puberty and gonadal disorders	2778	GNAS	ORPHA:79444
HP:0008373	Puberty and gonadal disorders	658	BMPR1B	OMIM:609441
HP:0008373	Puberty and gonadal disorders	2178	FANCE	OMIM:600901
HP:0008373	Puberty and gonadal disorders	6342	SCP2	OMIM:613724
HP:0008373	Puberty and gonadal disorders	2584	GALK1	ORPHA:79237
HP:0008373	Puberty and gonadal disorders	9663	LPIN2	OMIM:609628
HP:0008373	Puberty and gonadal disorders	1497	CTNS	OMIM:219800
HP:0008373	Puberty and gonadal disorders	2245	FGD1	OMIM:305400
HP:0008373	Puberty and gonadal disorders	6885	MAP3K7	OMIM:617137
HP:0008373	Puberty and gonadal disorders	6777	STAT5B	OMIM:618985
HP:0008373	Puberty and gonadal disorders	5443	POMC	ORPHA:71526
HP:0008373	Puberty and gonadal disorders	125150	ZSWIM7	OMIM:619834
HP:0008373	Puberty and gonadal disorders	125150	ZSWIM7	ORPHA:243
HP:0008373	Puberty and gonadal disorders	2542	SLC37A4	OMIM:232220
HP:0008373	Puberty and gonadal disorders	2542	SLC37A4	ORPHA:79259
HP:0008373	Puberty and gonadal disorders	2542	SLC37A4	OMIM:232240
HP:0008373	Puberty and gonadal disorders	5447	POR	ORPHA:95699
HP:0008373	Puberty and gonadal disorders	4312	MMP1	ORPHA:79408
HP:0008373	Puberty and gonadal disorders	1294	COL7A1	ORPHA:79408
HP:0008373	Puberty and gonadal disorders	1294	COL7A1	ORPHA:89842
HP:0008373	Puberty and gonadal disorders	56945	MRPS22	OMIM:618117
HP:0008373	Puberty and gonadal disorders	56945	MRPS22	ORPHA:243
HP:0008373	Puberty and gonadal disorders	4952	OCRL	ORPHA:534
HP:0008373	Puberty and gonadal disorders	6926	TBX3	ORPHA:3138
HP:0008373	Puberty and gonadal disorders	6926	TBX3	OMIM:181450
HP:0008373	Puberty and gonadal disorders	114548	NLRP3	ORPHA:575
HP:0008373	Puberty and gonadal disorders	6609	SMPD1	ORPHA:77293
HP:0008373	Puberty and gonadal disorders	6772	STAT1	OMIM:614162
HP:0008373	Puberty and gonadal disorders	6772	STAT1	ORPHA:391487
HP:0008373	Puberty and gonadal disorders	6884	TAF13	OMIM:617432
HP:0008373	Puberty and gonadal disorders	3483	IGFALS	ORPHA:140941
HP:0008373	Puberty and gonadal disorders	3483	IGFALS	OMIM:615961
HP:0008373	Puberty and gonadal disorders	29893	PSMC3IP	OMIM:614324
HP:0008373	Puberty and gonadal disorders	29893	PSMC3IP	ORPHA:243
HP:0008373	Puberty and gonadal disorders	2538	G6PC1	OMIM:232200
HP:0008373	Puberty and gonadal disorders	3117	HLA-DQA1	OMIM:212750
HP:0008373	Puberty and gonadal disorders	3119	HLA-DQB1	OMIM:212750
HP:0008373	Puberty and gonadal disorders	2717	GLA	ORPHA:324
HP:0008373	Puberty and gonadal disorders	2717	GLA	OMIM:301500
HP:0008373	Puberty and gonadal disorders	157680	VPS13B	OMIM:216550
HP:0008373	Puberty and gonadal disorders	157680	VPS13B	ORPHA:193
HP:0008373	Puberty and gonadal disorders	80324	PUS1	OMIM:600462
HP:0008373	Puberty and gonadal disorders	80324	PUS1	ORPHA:2598
HP:0008373	Puberty and gonadal disorders	51651	PTRH2	ORPHA:456312
HP:0008373	Puberty and gonadal disorders	51651	PTRH2	OMIM:616263
HP:0008373	Puberty and gonadal disorders	833	CARS1	OMIM:618891
HP:0008373	Puberty and gonadal disorders	4853	NOTCH2	ORPHA:955
HP:0008373	Puberty and gonadal disorders	374393	FAM111B	OMIM:615704
HP:0008373	Puberty and gonadal disorders	23476	BRD4	ORPHA:199
HP:0008373	Puberty and gonadal disorders	9126	SMC3	ORPHA:199
HP:0008373	Puberty and gonadal disorders	8243	SMC1A	ORPHA:199
HP:0008373	Puberty and gonadal disorders	25836	NIPBL	ORPHA:199
HP:0008373	Puberty and gonadal disorders	5885	RAD21	ORPHA:199
HP:0008373	Puberty and gonadal disorders	953	ENTPD1	ORPHA:401810
HP:0008373	Puberty and gonadal disorders	953	ENTPD1	OMIM:615683
HP:0008373	Puberty and gonadal disorders	10043	TOM1	ORPHA:391487
HP:0008373	Puberty and gonadal disorders	84265	POLR3GL	OMIM:619234
HP:0008373	Puberty and gonadal disorders	6711	SPTBN1	OMIM:619475
HP:0008373	Puberty and gonadal disorders	6774	STAT3	OMIM:615952
HP:0008373	Puberty and gonadal disorders	8239	USP9X	ORPHA:480880
HP:0008373	Puberty and gonadal disorders	6134	RPL10	ORPHA:459070
HP:0008373	Puberty and gonadal disorders	6091	ROBO1	ORPHA:95496
HP:0008373	Puberty and gonadal disorders	23432	GPR161	ORPHA:95496
HP:0008373	Puberty and gonadal disorders	51317	PHF21A	ORPHA:52022
HP:0008373	Puberty and gonadal disorders	55210	ATAD3A	ORPHA:496790
HP:0008373	Puberty and gonadal disorders	4841	NONO	OMIM:300967
HP:0008373	Puberty and gonadal disorders	4841	NONO	ORPHA:466791
HP:0008373	Puberty and gonadal disorders	79983	POF1B	OMIM:300604
HP:0008373	Puberty and gonadal disorders	226	ALDOA	OMIM:611881
HP:0008373	Puberty and gonadal disorders	6299	SALL1	ORPHA:857
HP:0008373	Puberty and gonadal disorders	51339	DACT1	ORPHA:857
HP:0008373	Puberty and gonadal disorders	84919	PPP1R15B	OMIM:616817
HP:0008373	Puberty and gonadal disorders	84919	PPP1R15B	ORPHA:391408
HP:0008373	Puberty and gonadal disorders	2629	GBA1	ORPHA:2072
HP:0008373	Puberty and gonadal disorders	2629	GBA1	ORPHA:77261
HP:0008373	Puberty and gonadal disorders	2629	GBA1	ORPHA:77259
HP:0008373	Puberty and gonadal disorders	5236	PGM1	OMIM:614921
HP:0008373	Puberty and gonadal disorders	695	BTK	OMIM:307200
HP:0008373	Puberty and gonadal disorders	4693	NDP	ORPHA:649
HP:0008373	Puberty and gonadal disorders	5836	PYGL	ORPHA:369
HP:0008373	Puberty and gonadal disorders	51067	YARS2	ORPHA:2598
HP:0008373	Puberty and gonadal disorders	22931	RAB18	ORPHA:2510
HP:0008373	Puberty and gonadal disorders	128637	TBC1D20	ORPHA:2510
HP:0008373	Puberty and gonadal disorders	171568	POLR3H	ORPHA:243
HP:0008373	Puberty and gonadal disorders	23514	SPIDR	ORPHA:243
HP:0008373	Puberty and gonadal disorders	23514	SPIDR	OMIM:619665
HP:0008373	Puberty and gonadal disorders	2492	FSHR	ORPHA:243
HP:0008373	Puberty and gonadal disorders	646	BNC1	ORPHA:243
HP:0008373	Puberty and gonadal disorders	1968	EIF2S3	OMIM:300148
HP:0008373	Puberty and gonadal disorders	5256	PHKA2	ORPHA:264580
HP:0008373	Puberty and gonadal disorders	5261	PHKG2	ORPHA:264580
HP:0008373	Puberty and gonadal disorders	51053	GMNN	OMIM:616835
HP:0008373	Puberty and gonadal disorders	6559	SLC12A3	OMIM:263800
HP:0008373	Puberty and gonadal disorders	6559	SLC12A3	ORPHA:358
HP:0008373	Puberty and gonadal disorders	6307	MSMO1	OMIM:616834
HP:0008373	Puberty and gonadal disorders	6664	SOX11	OMIM:615866
HP:0008373	Puberty and gonadal disorders	2693	GHSR	ORPHA:314811
HP:0008373	Puberty and gonadal disorders	9325	TRIP4	ORPHA:486815
HP:0008373	Puberty and gonadal disorders	1188	CLCNKB	ORPHA:358
HP:0008373	Puberty and gonadal disorders	950	SCARB2	ORPHA:77259
HP:0008373	Puberty and gonadal disorders	3265	HRAS	ORPHA:79414
HP:0008373	Puberty and gonadal disorders	3265	HRAS	OMIM:163200
HP:0008373	Puberty and gonadal disorders	3265	HRAS	ORPHA:2874
HP:0008373	Puberty and gonadal disorders	9563	H6PD	OMIM:604931
HP:0008373	Puberty and gonadal disorders	2737	GLI3	ORPHA:672
HP:0008373	Puberty and gonadal disorders	2737	GLI3	OMIM:146510
HP:0008373	Puberty and gonadal disorders	388015	RTL1	ORPHA:254531
HP:0008373	Puberty and gonadal disorders	388015	RTL1	ORPHA:96184
HP:0008373	Puberty and gonadal disorders	388015	RTL1	ORPHA:254525
HP:0008373	Puberty and gonadal disorders	8788	DLK1	ORPHA:254531
HP:0008373	Puberty and gonadal disorders	8788	DLK1	ORPHA:96184
HP:0008373	Puberty and gonadal disorders	8788	DLK1	ORPHA:254525
HP:0008373	Puberty and gonadal disorders	55384	MEG3	ORPHA:254531
HP:0008373	Puberty and gonadal disorders	55384	MEG3	ORPHA:96184
HP:0008373	Puberty and gonadal disorders	55384	MEG3	ORPHA:254525
HP:0008373	Puberty and gonadal disorders	3643	INSR	OMIM:262190
HP:0008373	Puberty and gonadal disorders	3643	INSR	OMIM:246200
HP:0008373	Puberty and gonadal disorders	3643	INSR	ORPHA:769
HP:0008373	Puberty and gonadal disorders	9757	KMT2B	ORPHA:589618
HP:0008373	Puberty and gonadal disorders	5281	PIGF	OMIM:619356
HP:0008373	Puberty and gonadal disorders	8367	H4C5	OMIM:619950
HP:0008373	Puberty and gonadal disorders	57061	HYMAI	ORPHA:96191
HP:0008373	Puberty and gonadal disorders	5325	PLAGL1	ORPHA:96191
HP:0008373	Puberty and gonadal disorders	2132	EXT2	OMIM:616682
HP:0008373	Puberty and gonadal disorders	51604	PIGT	ORPHA:369837
HP:0008373	Puberty and gonadal disorders	7249	TSC2	OMIM:613254
HP:0008373	Puberty and gonadal disorders	3458	IFNG	OMIM:613254
HP:0008373	Puberty and gonadal disorders	7355	SLC35A2	ORPHA:356961
HP:0008373	Puberty and gonadal disorders	116115	ZNF526	OMIM:619877
HP:0008373	Puberty and gonadal disorders	10586	MAB21L2	OMIM:615877
HP:0008373	Puberty and gonadal disorders	4796	TONSL	ORPHA:93357
HP:0008373	Puberty and gonadal disorders	2908	NR3C1	ORPHA:786
HP:0008373	Puberty and gonadal disorders	26047	CNTNAP2	ORPHA:163681
HP:0008373	Puberty and gonadal disorders	10236	HNRNPR	OMIM:620073
HP:0008373	Puberty and gonadal disorders	4784	NFIX	ORPHA:447980
HP:0008373	Puberty and gonadal disorders	79813	EHMT1	ORPHA:261652
HP:0008373	Puberty and gonadal disorders	58508	KMT2C	ORPHA:261652
HP:0008373	Puberty and gonadal disorders	284058	KANSL1	ORPHA:363965
HP:0008373	Puberty and gonadal disorders	284058	KANSL1	ORPHA:363958
HP:0008373	Puberty and gonadal disorders	51715	RAB23	OMIM:201000
HP:0008373	Puberty and gonadal disorders	80816	ASXL3	OMIM:615485
HP:0008373	Puberty and gonadal disorders	23112	TNRC6B	OMIM:619243
HP:0008373	Puberty and gonadal disorders	28514	DLL1	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	6496	SIX3	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	7050	TGIF1	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	4838	NODAL	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	6469	SHH	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	7546	ZIC2	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	6491	STIL	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	2619	GAS1	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	84976	DISP1	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	8928	FOXH1	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	50937	CDON	ORPHA:280195
HP:0008373	Puberty and gonadal disorders	23096	IQSEC2	ORPHA:217377
HP:0008373	Puberty and gonadal disorders	23096	IQSEC2	ORPHA:819
HP:0008373	Puberty and gonadal disorders	1654	DDX3X	OMIM:300958
HP:0008373	Puberty and gonadal disorders	1654	DDX3X	ORPHA:457260
HP:0008373	Puberty and gonadal disorders	2314	FLII	ORPHA:819
HP:0008373	Puberty and gonadal disorders	10743	RAI1	ORPHA:819
HP:0008373	Puberty and gonadal disorders	10522	DEAF1	ORPHA:819
HP:0008373	Puberty and gonadal disorders	7248	TSC1	OMIM:191100
HP:0008373	Puberty and gonadal disorders	10847	SRCAP	ORPHA:2044
HP:0008373	Puberty and gonadal disorders	50940	PDE11A	ORPHA:1359
HP:0008373	Puberty and gonadal disorders	7030	TFE3	OMIM:301066
HP:0008373	Puberty and gonadal disorders	5745	PTH1R	ORPHA:296
HP:0008373	Puberty and gonadal disorders	3418	IDH2	ORPHA:296
HP:0008373	Puberty and gonadal disorders	3417	IDH1	ORPHA:296
HP:0008373	Puberty and gonadal disorders	5116	PCNT	ORPHA:2637
HP:0008373	Puberty and gonadal disorders	5116	PCNT	OMIM:210720
HP:0008373	Puberty and gonadal disorders	1717	DHCR7	OMIM:270400
HP:0008373	Puberty and gonadal disorders	56246	MRAP	ORPHA:361
HP:0008373	Puberty and gonadal disorders	6770	STAR	ORPHA:361
HP:0008373	Puberty and gonadal disorders	4158	MC2R	ORPHA:361
HP:0008373	Puberty and gonadal disorders	23530	NNT	ORPHA:361
HP:0008373	Puberty and gonadal disorders	23530	NNT	OMIM:614736
HP:0008373	Puberty and gonadal disorders	10587	TXNRD2	ORPHA:361
HP:0008373	Puberty and gonadal disorders	10943	MSL3	OMIM:301032
HP:0008373	Puberty and gonadal disorders	55553	SOX6	OMIM:618971
HP:0008373	Puberty and gonadal disorders	375056	MIA3	OMIM:619269
HP:0008373	Puberty and gonadal disorders	53834	FGFRL1	OMIM:194190
HP:0008373	Puberty and gonadal disorders	1487	CTBP1	OMIM:194190
HP:0008373	Puberty and gonadal disorders	3954	LETM1	OMIM:194190
HP:0008373	Puberty and gonadal disorders	7468	NSD2	OMIM:194190
HP:0008373	Puberty and gonadal disorders	10815	CPLX1	OMIM:194190
HP:0008373	Puberty and gonadal disorders	6792	CDKL5	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	3736	KCNA1	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	9091	PIGQ	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	2775	GNAO1	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	81603	TRIM8	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	2902	GRIN1	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	79751	SLC25A22	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	150094	SIK1	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	8573	CASK	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	2917	GRM7	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	170302	ARX	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	11284	PNKP	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	6326	SCN2A	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	51227	PIGP	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	6324	SCN1B	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	4761	NEUROD2	ORPHA:1934
HP:0008373	Puberty and gonadal disorders	4763	NF1	ORPHA:97685
HP:0008373	Puberty and gonadal disorders	158326	FREM1	OMIM:608980
HP:0008373	Puberty and gonadal disorders	2313	FLI1	ORPHA:370348
HP:0008373	Puberty and gonadal disorders	1589	CYP21A2	OMIM:201910
HP:0008373	Puberty and gonadal disorders	1583	CYP11A1	ORPHA:289548
HP:0008373	Puberty and gonadal disorders	1583	CYP11A1	ORPHA:168558
HP:0008373	Puberty and gonadal disorders	1967	EIF2B1	OMIM:603896
HP:0008373	Puberty and gonadal disorders	7466	WFS1	ORPHA:411590
HP:0008373	Puberty and gonadal disorders	1528	CYB5A	ORPHA:90796
HP:0008373	Puberty and gonadal disorders	6845	VAMP7	ORPHA:251510
HP:0008373	Puberty and gonadal disorders	51741	WWOX	ORPHA:251510
HP:0008373	Puberty and gonadal disorders	58524	DMRT3	ORPHA:251510
HP:0008373	Puberty and gonadal disorders	23414	ZFPM2	ORPHA:251510
HP:0008373	Puberty and gonadal disorders	2626	GATA4	ORPHA:251510
HP:0008373	Puberty and gonadal disorders	286053	NSMCE2	ORPHA:436182
HP:0008373	Puberty and gonadal disorders	7518	XRCC4	ORPHA:436182
HP:0008373	Puberty and gonadal disorders	2099	ESR1	ORPHA:785
HP:0008373	Puberty and gonadal disorders	4808	NHLH2	OMIM:619755
HP:0008373	Puberty and gonadal disorders	79633	FAT4	ORPHA:314679
HP:0008373	Puberty and gonadal disorders	8642	DCHS1	ORPHA:314679
HP:0008373	Puberty and gonadal disorders	6794	STK11	OMIM:175200
HP:0008373	Puberty and gonadal disorders	10046	MAMLD1	ORPHA:95706
HP:0008373	Puberty and gonadal disorders	140732	SUN5	ORPHA:529970
HP:0008373	Puberty and gonadal disorders	83449	PMFBP1	ORPHA:529970
HP:0008373	Puberty and gonadal disorders	4041	LRP5	ORPHA:2788
HP:0008373	Puberty and gonadal disorders	1584	CYP11B1	ORPHA:90795
HP:0008373	Puberty and gonadal disorders	57531	HACE1	ORPHA:464282
HP:0008373	Puberty and gonadal disorders	29929	ALG6	ORPHA:79320
HP:0008373	Puberty and gonadal disorders	4313	MMP2	ORPHA:371428
HP:0008373	Puberty and gonadal disorders	4323	MMP14	ORPHA:371428
HP:0008373	Puberty and gonadal disorders	1387	CREBBP	OMIM:180849
HP:0008373	Puberty and gonadal disorders	2033	EP300	OMIM:180849
HP:0008373	Puberty and gonadal disorders	1859	DYRK1A	ORPHA:268261
HP:0008373	Puberty and gonadal disorders	8085	KMT2D	OMIM:147920
HP:0008373	Puberty and gonadal disorders	7403	KDM6A	OMIM:147920
HP:0008373	Puberty and gonadal disorders	1984	EIF5A	OMIM:619376
HP:0008373	Puberty and gonadal disorders	2890	GRIA1	OMIM:619931
HP:0008373	Puberty and gonadal disorders	5468	PPARG	ORPHA:528
HP:0008373	Puberty and gonadal disorders	10555	AGPAT2	ORPHA:528
HP:0008373	Puberty and gonadal disorders	284119	CAVIN1	ORPHA:528
HP:0008373	Puberty and gonadal disorders	26580	BSCL2	ORPHA:528
HP:0008373	Puberty and gonadal disorders	2353	FOS	ORPHA:528
HP:0008373	Puberty and gonadal disorders	857	CAV1	ORPHA:528
HP:0008373	Puberty and gonadal disorders	1586	CYP17A1	ORPHA:90793
HP:0008373	Puberty and gonadal disorders	3284	HSD3B2	OMIM:201810
HP:0008373	Puberty and gonadal disorders	3290	HSD11B1	OMIM:614662
HP:0008373	Puberty and gonadal disorders	128989	TANGO2	OMIM:616878
HP:0008373	Puberty and gonadal disorders	9060	PAPSS2	OMIM:612847
HP:0008373	Puberty and gonadal disorders	2887	GRB10	ORPHA:96182
HP:0008373	Puberty and gonadal disorders	10273	STUB1	ORPHA:412057
HP:0008373	Puberty and gonadal disorders	5192	PEX10	OMIM:614871
HP:0008373	Puberty and gonadal disorders	4000	LMNA	ORPHA:740
HP:0008373	Puberty and gonadal disorders	10269	ZMPSTE24	ORPHA:740
HP:0008373	Puberty and gonadal disorders	10165	SLC25A13	ORPHA:247585
HP:0008373	Puberty and gonadal disorders	7840	ALMS1	ORPHA:64
HP:0008373	Puberty and gonadal disorders	10059	DNM1L	ORPHA:330050
HP:0008373	Puberty and gonadal disorders	2690	GHR	OMIM:262500
HP:0008373	Puberty and gonadal disorders	80152	CENPT	OMIM:618702
HP:0008373	Puberty and gonadal disorders	93587	TRMT10A	OMIM:616033
HP:0008376	Nasal, dysarthic speech	7314	UBB	ORPHA:99771
HP:0008376	Nasal, dysarthic speech	57822	GRHL3	ORPHA:99771
HP:0008376	Nasal, dysarthic speech	85465	SELENOI	ORPHA:506353
HP:0008376	Nasal, dysarthic speech	10755	GIPC1	ORPHA:98897
HP:0008376	Nasal, dysarthic speech	100996717	NOTCH2NLC	ORPHA:98897
HP:0008752	Laryngeal cartilage malformation	1387	CREBBP	ORPHA:353277
HP:0008752	Laryngeal cartilage malformation	1836	SLC26A2	ORPHA:56304
HP:0008752	Laryngeal cartilage malformation	2033	EP300	ORPHA:353284
HP:0031795	Abnormal circulating glycerol level	2710	GK	OMIM:307030
HP:0031796	Recurrent	5741	PTH	OMIM:146200
HP:0031796	Recurrent	1629	DBT	OMIM:248600
HP:0031796	Recurrent	593	BCKDHA	OMIM:248600
HP:0031796	Recurrent	594	BCKDHB	OMIM:248600
HP:0031796	Recurrent	8243	SMC1A	OMIM:301044
HP:0031796	Recurrent	135	ADORA2A	ORPHA:363549
HP:0031797	Clinical course	83483	PLVAP	OMIM:618183
HP:0031797	Clinical course	341640	FREM2	ORPHA:2052
HP:0031797	Clinical course	80144	FRAS1	ORPHA:2052
HP:0031797	Clinical course	8425	LTBP4	OMIM:613177
HP:0031797	Clinical course	83700	JAM3	OMIM:613730
HP:0031797	Clinical course	55627	SMPD4	OMIM:618622
HP:0031797	Clinical course	2731	GLDC	OMIM:605899
HP:0031797	Clinical course	275	AMT	OMIM:605899
HP:0031797	Clinical course	5395	PMS2	ORPHA:144
HP:0031797	Clinical course	27030	MLH3	ORPHA:144
HP:0031797	Clinical course	7048	TGFBR2	ORPHA:144
HP:0031797	Clinical course	3845	KRAS	ORPHA:144
HP:0031797	Clinical course	5290	PIK3CA	ORPHA:144
HP:0031797	Clinical course	2956	MSH6	ORPHA:144
HP:0031797	Clinical course	5378	PMS1	ORPHA:144
HP:0031797	Clinical course	54968	TMEM70	ORPHA:1194
HP:0031797	Clinical course	80816	ASXL3	OMIM:615485
HP:0031797	Clinical course	387787	LIPT2	OMIM:617668
HP:0031797	Clinical course	4056	LTC4S	OMIM:614037
HP:0031797	Clinical course	2137	EXTL3	OMIM:617425
HP:0031797	Clinical course	10084	PQBP1	ORPHA:93946
HP:0031797	Clinical course	5979	RET	ORPHA:99803
HP:0031797	Clinical course	429	ASCL1	ORPHA:99803
HP:0031797	Clinical course	6439	SFTPB	OMIM:265120
HP:0031797	Clinical course	3899	AFF3	OMIM:619297
HP:0031797	Clinical course	1020	CDK5	OMIM:616342
HP:0031797	Clinical course	150094	SIK1	OMIM:616341
HP:0031797	Clinical course	1801	DPH1	OMIM:616901
HP:0031797	Clinical course	55681	SCYL2	OMIM:618766
HP:0031797	Clinical course	64359	NXN	ORPHA:1507
HP:0031797	Clinical course	4920	ROR2	ORPHA:1507
HP:0031797	Clinical course	21	ABCA3	OMIM:610921
HP:0031797	Clinical course	1717	DHCR7	OMIM:270400
HP:0031797	Clinical course	4632	MYL1	OMIM:618414
HP:0031797	Clinical course	63894	VIPAS39	OMIM:613404
HP:0031797	Clinical course	1174	AP1S1	OMIM:609313
HP:0031797	Clinical course	63901	FAM111A	OMIM:602361
HP:0031797	Clinical course	26154	ABCA12	OMIM:242500
HP:0031797	Clinical course	57217	TTC7A	OMIM:243150
HP:0031797	Clinical course	5190	PEX6	OMIM:614862
HP:0031797	Clinical course	5190	PEX6	ORPHA:912
HP:0031797	Clinical course	10013	HDAC6	ORPHA:163966
HP:0031797	Clinical course	128674	PROKR2	ORPHA:95496
HP:0031797	Clinical course	89884	LHX4	ORPHA:95496
HP:0031797	Clinical course	55717	WDR11	ORPHA:95496
HP:0031797	Clinical course	6091	ROBO1	ORPHA:95496
HP:0031797	Clinical course	8820	HESX1	ORPHA:95496
HP:0031797	Clinical course	50937	CDON	ORPHA:95496
HP:0031797	Clinical course	23432	GPR161	ORPHA:95496
HP:0031797	Clinical course	84992	PIGY	OMIM:616809
HP:0031797	Clinical course	51611	DPH5	OMIM:620070
HP:0031797	Clinical course	6628	SNRPB	ORPHA:1393
HP:0031797	Clinical course	8818	DPM2	OMIM:615042
HP:0031797	Clinical course	10436	EMG1	ORPHA:1270
HP:0031797	Clinical course	55670	PEX26	OMIM:614872
HP:0031797	Clinical course	55670	PEX26	ORPHA:912
HP:0031797	Clinical course	28976	ACAD9	OMIM:611126
HP:0031797	Clinical course	4638	MYLK	ORPHA:2241
HP:0031797	Clinical course	2239	GPC4	ORPHA:373
HP:0031797	Clinical course	2719	GPC3	ORPHA:373
HP:0031797	Clinical course	6603	SMARCD2	OMIM:617475
HP:0031797	Clinical course	8504	PEX3	OMIM:614882
HP:0031797	Clinical course	8504	PEX3	ORPHA:912
HP:0031797	Clinical course	54916	TMEM260	OMIM:617478
HP:0031797	Clinical course	2261	FGFR3	OMIM:100800
HP:0031797	Clinical course	3914	LAMB3	OMIM:226700
HP:0031797	Clinical course	3909	LAMA3	OMIM:226700
HP:0031797	Clinical course	3909	LAMA3	OMIM:619784
HP:0031797	Clinical course	3918	LAMC2	OMIM:226700
HP:0031797	Clinical course	3918	LAMC2	OMIM:619786
HP:0031797	Clinical course	51645	PPIL1	OMIM:619301
HP:0031797	Clinical course	51362	CDC40	OMIM:619302
HP:0031797	Clinical course	4633	MYL2	OMIM:619424
HP:0031797	Clinical course	91137	SLC25A46	OMIM:619303
HP:0031797	Clinical course	1892	ECHS1	OMIM:616277
HP:0031797	Clinical course	51025	PAM16	OMIM:613320
HP:0031797	Clinical course	27429	HTRA2	OMIM:617248
HP:0031797	Clinical course	5824	PEX19	ORPHA:912
HP:0031797	Clinical course	8799	PEX11B	ORPHA:912
HP:0031797	Clinical course	5830	PEX5	ORPHA:912
HP:0031797	Clinical course	56052	ALG1	OMIM:608540
HP:0031797	Clinical course	9488	PIGB	OMIM:618580
HP:0031797	Clinical course	91949	COG7	OMIM:608779
HP:0031797	Clinical course	3691	ITGB4	OMIM:226730
HP:0031797	Clinical course	112	ADCY6	OMIM:616287
HP:0031797	Clinical course	56203	LMOD3	OMIM:616165
HP:0031797	Clinical course	7167	TPI1	OMIM:615512
HP:0031797	Clinical course	10102	TSFM	OMIM:610505
HP:0031797	Clinical course	56945	MRPS22	OMIM:611719
HP:0031797	Clinical course	283989	TSEN54	OMIM:225753
HP:0031797	Clinical course	6809	STX3	OMIM:619446
HP:0031797	Clinical course	54931	TRMT10C	OMIM:616974
HP:0031797	Clinical course	29968	PSAT1	OMIM:610992
HP:0031797	Clinical course	56975	FAM20C	OMIM:259775
HP:0031797	Clinical course	170302	ARX	ORPHA:452
HP:0031797	Clinical course	5980	REV3L	ORPHA:570
HP:0031797	Clinical course	23129	PLXND1	ORPHA:570
HP:0031797	Clinical course	4998	ORC1	OMIM:224690
HP:0031797	Clinical course	80746	TSEN2	OMIM:612389
HP:0031797	Clinical course	2917	GRM7	OMIM:618922
HP:0031797	Clinical course	64093	SMOC1	ORPHA:1106
HP:0031797	Clinical course	197131	UBR1	ORPHA:2315
HP:0031797	Clinical course	6821	SUOX	OMIM:272300
HP:0031797	Clinical course	3977	LIFR	OMIM:601559
HP:0031797	Clinical course	4905	NSF	OMIM:619340
HP:0031797	Clinical course	57511	COG6	OMIM:614576
HP:0031797	Clinical course	9419	CRIPT	OMIM:615789
HP:0031797	Clinical course	2313	FLI1	ORPHA:2308
HP:0031797	Clinical course	29957	SLC25A24	OMIM:612289
HP:0031797	Clinical course	8087	FXR1	OMIM:618822
HP:0031797	Clinical course	6608	SMO	OMIM:241800
HP:0031797	Clinical course	658	BMPR1B	ORPHA:2098
HP:0031797	Clinical course	51360	MBTPS2	OMIM:308205
HP:0031797	Clinical course	8567	MADD	OMIM:619004
HP:0031797	Clinical course	55278	QRSL1	OMIM:618835
HP:0031797	Clinical course	283459	GATC	OMIM:618839
HP:0031797	Clinical course	5889	RAD51C	OMIM:613390
HP:0031797	Clinical course	57020	VPS35L	OMIM:619135
HP:0031797	Clinical course	27040	LAT	OMIM:617514
HP:0031797	Clinical course	10491	CRTAP	OMIM:610682
HP:0031797	Clinical course	55191	NADSYN1	OMIM:618845
HP:0031797	Clinical course	10225	CD96	ORPHA:1308
HP:0031797	Clinical course	9939	RBM8A	OMIM:274000
HP:0031797	Clinical course	23529	CLCF1	ORPHA:1545
HP:0031797	Clinical course	9244	CRLF1	ORPHA:1545
HP:0031797	Clinical course	28952	CCDC22	ORPHA:7
HP:0031797	Clinical course	9054	NFS1	OMIM:619386
HP:0031797	Clinical course	4893	NRAS	OMIM:249400
HP:0031797	Clinical course	131377	KLHL40	OMIM:615348
HP:0031797	Clinical course	255758	DYNLT2B	OMIM:617405
HP:0031797	Clinical course	776	CACNA1D	OMIM:615474
HP:0031797	Clinical course	776	CACNA1D	OMIM:614896
HP:0031797	Clinical course	2304	FOXE1	OMIM:241850
HP:0031797	Clinical course	5913	RAPSN	OMIM:616326
HP:0031797	Clinical course	7299	TYR	OMIM:203100
HP:0031797	Clinical course	4897	NRCAM	OMIM:619833
HP:0031797	Clinical course	23498	HAAO	OMIM:617660
HP:0031797	Clinical course	1855	DVL1	OMIM:616331
HP:0031797	Clinical course	1855	DVL1	OMIM:180700
HP:0031797	Clinical course	27229	TUBGCP4	OMIM:616335
HP:0031797	Clinical course	25790	CFAP45	OMIM:619608
HP:0031797	Clinical course	1288	COL4A6	OMIM:300914
HP:0031797	Clinical course	3149	HMGB3	OMIM:300915
HP:0031797	Clinical course	57082	KNL1	OMIM:604321
HP:0031797	Clinical course	2188	FANCF	OMIM:603467
HP:0031797	Clinical course	90	ACVR1	OMIM:135100
HP:0031797	Clinical course	4646	MYO6	OMIM:607821
HP:0031797	Clinical course	9071	CLDN10	OMIM:617671
HP:0031797	Clinical course	54567	DLL4	OMIM:616589
HP:0031797	Clinical course	84100	ARL6	OMIM:209900
HP:0031797	Clinical course	84100	ARL6	OMIM:600151
HP:0031797	Clinical course	79140	CCDC28B	OMIM:209900
HP:0031797	Clinical course	582	BBS1	OMIM:209900
HP:0031797	Clinical course	1528	CYB5A	OMIM:250790
HP:0031797	Clinical course	4620	MYH2	OMIM:605637
HP:0031797	Clinical course	10484	SEC23A	OMIM:607812
HP:0031797	Clinical course	204219	CERS3	OMIM:615023
HP:0031797	Clinical course	285848	PNPLA1	OMIM:615024
HP:0031797	Clinical course	7092	TLL1	OMIM:613087
HP:0031797	Clinical course	8550	MAPKAPK5	OMIM:619869
HP:0031797	Clinical course	168507	PKD1L1	OMIM:617205
HP:0031797	Clinical course	51761	ATP8A2	OMIM:615268
HP:0031797	Clinical course	1474	CST6	OMIM:618535
HP:0031797	Clinical course	126410	CYP4F22	OMIM:604777
HP:0031797	Clinical course	5337	PLD1	OMIM:212093
HP:0031797	Clinical course	5317	PKP1	OMIM:604536
HP:0031797	Clinical course	57822	GRHL3	OMIM:606713
HP:0031797	Clinical course	1187	CLCNKA	OMIM:613090
HP:0031797	Clinical course	4284	MIP	OMIM:615274
HP:0031797	Clinical course	8558	CDK10	OMIM:617694
HP:0031797	Clinical course	808	CALM3	OMIM:618782
HP:0031797	Clinical course	57167	SALL4	OMIM:147750
HP:0031797	Clinical course	57167	SALL4	OMIM:607323
HP:0031797	Clinical course	27125	AFF4	OMIM:616368
HP:0031797	Clinical course	1909	EDNRA	OMIM:616367
HP:0031797	Clinical course	5727	PTCH1	OMIM:610828
HP:0031797	Clinical course	10329	RXYLT1	OMIM:615041
HP:0031797	Clinical course	2263	FGFR2	OMIM:123790
HP:0031797	Clinical course	2263	FGFR2	OMIM:614592
HP:0031797	Clinical course	2263	FGFR2	OMIM:101200
HP:0031797	Clinical course	9772	TMEM94	OMIM:618316
HP:0031797	Clinical course	1910	EDNRB	OMIM:600155
HP:0031797	Clinical course	1910	EDNRB	OMIM:600501
HP:0031797	Clinical course	442721	LMOD2	OMIM:619897
HP:0031797	Clinical course	23483	TGDS	OMIM:616145
HP:0031797	Clinical course	285203	EOGT	OMIM:615297
HP:0031797	Clinical course	4087	SMAD2	OMIM:619657
HP:0031797	Clinical course	79648	MCPH1	OMIM:251200
HP:0031797	Clinical course	81839	VANGL1	OMIM:600145
HP:0031797	Clinical course	2071	ERCC3	OMIM:616390
HP:0031797	Clinical course	85300	ATCAY	OMIM:601238
HP:0031797	Clinical course	404672	GTF2H5	OMIM:616395
HP:0031797	Clinical course	9427	ECEL1	OMIM:615065
HP:0031797	Clinical course	22930	RAB3GAP1	OMIM:619420
HP:0031797	Clinical course	4286	MITF	OMIM:103500
HP:0031797	Clinical course	4286	MITF	OMIM:617306
HP:0031797	Clinical course	4286	MITF	OMIM:193510
HP:0031797	Clinical course	64132	XYLT2	OMIM:605822
HP:0031797	Clinical course	8925	HERC1	OMIM:617011
HP:0031797	Clinical course	1281	COL3A1	OMIM:618343
HP:0031797	Clinical course	10046	MAMLD1	OMIM:300758
HP:0031797	Clinical course	5309	PITX3	OMIM:610623
HP:0031797	Clinical course	4838	NODAL	OMIM:270100
HP:0031797	Clinical course	10733	PLK4	OMIM:616171
HP:0031797	Clinical course	7707	ZNF148	OMIM:617260
HP:0031797	Clinical course	6299	SALL1	OMIM:107480
HP:0031797	Clinical course	3728	JUP	OMIM:601214
HP:0031797	Clinical course	6567	SLC16A2	OMIM:300523
HP:0031797	Clinical course	23395	LARS2	OMIM:617021
HP:0031797	Clinical course	55262	TRAPPC14	OMIM:618351
HP:0031797	Clinical course	114803	MYSM1	OMIM:618116
HP:0031797	Clinical course	2735	GLI1	OMIM:618123
HP:0031797	Clinical course	63925	ZNF335	OMIM:615095
HP:0031797	Clinical course	57007	ACKR3	OMIM:619215
HP:0031797	Clinical course	1621	DBH	OMIM:223360
HP:0031797	Clinical course	7021	TFAP2B	OMIM:617035
HP:0031797	Clinical course	81788	NUAK2	OMIM:619452
HP:0031797	Clinical course	27341	RRP7A	OMIM:619453
HP:0031797	Clinical course	2019	EN1	OMIM:619218
HP:0031797	Clinical course	1009	CDH11	OMIM:211380
HP:0031797	Clinical course	1009	CDH11	OMIM:619736
HP:0031797	Clinical course	4627	MYH9	OMIM:155100
HP:0031797	Clinical course	7809	BSND	OMIM:602522
HP:0031797	Clinical course	7086	TKT	OMIM:617044
HP:0031797	Clinical course	2009	EML1	OMIM:600348
HP:0031797	Clinical course	11342	RNF13	OMIM:618379
HP:0031797	Clinical course	4613	MYCN	OMIM:164280
HP:0031797	Clinical course	50801	KCNK4	OMIM:618381
HP:0031797	Clinical course	26160	IFT172	OMIM:619471
HP:0031797	Clinical course	4158	MC2R	OMIM:202200
HP:0031797	Clinical course	10526	IPO8	OMIM:619472
HP:0031797	Clinical course	348180	CTU2	OMIM:618142
HP:0031797	Clinical course	7737	RNF113A	OMIM:300953
HP:0031797	Clinical course	92002	CCNQ	OMIM:300707
HP:0031797	Clinical course	79574	EPS8L3	OMIM:612841
HP:0031797	Clinical course	10413	YAP1	OMIM:120433
HP:0031797	Clinical course	3248	HPGD	OMIM:259100
HP:0031797	Clinical course	3248	HPGD	OMIM:119900
HP:0031797	Clinical course	3636	INPPL1	OMIM:258480
HP:0031797	Clinical course	6872	TAF1	OMIM:300966
HP:0031797	Clinical course	158326	FREM1	OMIM:248450
HP:0031797	Clinical course	8318	CDC45	OMIM:617063
HP:0031797	Clinical course	55640	FLVCR2	OMIM:225790
HP:0031797	Clinical course	23233	EXOC6B	OMIM:618395
HP:0031797	Clinical course	9508	ADAMTS3	OMIM:618154
HP:0031797	Clinical course	91875	TTC5	OMIM:619244
HP:0031797	Clinical course	84340	GFM2	OMIM:618397
HP:0031797	Clinical course	4617	MYF5	OMIM:618155
HP:0031797	Clinical course	134353	LSM11	OMIM:619486
HP:0031797	Clinical course	100127206	MINAR2	OMIM:620238
HP:0031797	Clinical course	50485	SMARCAL1	OMIM:242900
HP:0031797	Clinical course	7341	SUMO1	OMIM:613705
HP:0031797	Clinical course	9573	GDF3	OMIM:613704
HP:0031797	Clinical course	2299	FOXI1	OMIM:600791
HP:0031797	Clinical course	5172	SLC26A4	OMIM:600791
HP:0031797	Clinical course	23387	SIK3	OMIM:618162
HP:0031797	Clinical course	6748	SSR4	OMIM:300934
HP:0031797	Clinical course	51168	MYO15A	OMIM:600316
HP:0031797	Clinical course	1908	EDN3	OMIM:613712
HP:0031797	Clinical course	4094	MAF	OMIM:610202
HP:0031797	Clinical course	2668	GDNF	OMIM:613711
HP:0031797	Clinical course	3110	MNX1	OMIM:176450
HP:0031797	Clinical course	253827	MSRB3	OMIM:613718
HP:0031797	Clinical course	6599	SMARCC1	OMIM:620241
HP:0031797	Clinical course	51082	POLR1D	OMIM:613717
HP:0031797	Clinical course	7474	WNT5A	OMIM:180700
HP:0031797	Clinical course	79023	NUP37	OMIM:618179
HP:0031797	Clinical course	8516	ITGA8	OMIM:191830
HP:0031797	Clinical course	90121	TSR2	OMIM:300946
HP:0031797	Clinical course	4233	MET	OMIM:620019
HP:0031797	Clinical course	4233	MET	OMIM:607278
HP:0031797	Clinical course	1414	CRYBB1	OMIM:611544
HP:0031797	Clinical course	3516	RBPJ	OMIM:614814
HP:0031797	Clinical course	26128	KIFBP	OMIM:609460
HP:0031797	Clinical course	57539	WDR35	OMIM:613610
HP:0031797	Clinical course	283310	OTOGL	OMIM:614944
HP:0031797	Clinical course	340990	OTOG	OMIM:614945
HP:0031797	Clinical course	1411	CRYBA1	OMIM:600881
HP:0031797	Clinical course	57222	ERGIC1	OMIM:208100
HP:0031797	Clinical course	89910	UBE3B	OMIM:244450
HP:0031797	Clinical course	1638	DCT	OMIM:619165
HP:0031797	Clinical course	3664	IRF6	OMIM:119500
HP:0031797	Clinical course	3664	IRF6	OMIM:119300
HP:0031797	Clinical course	6662	SOX9	OMIM:114290
HP:0031797	Clinical course	26153	KIF26A	OMIM:620156
HP:0031797	Clinical course	9382	COG1	OMIM:611209
HP:0031797	Clinical course	7125	TNNC2	OMIM:620161
HP:0031797	Clinical course	388698	FLG2	OMIM:618084
HP:0031797	Clinical course	9241	NOG	OMIM:186570
HP:0031797	Clinical course	220074	LRTOMT	OMIM:611451
HP:0031797	Clinical course	1889	ECE1	OMIM:613870
HP:0031797	Clinical course	93627	TBCK	OMIM:616900
HP:0031797	Clinical course	114034	TOE1	OMIM:614969
HP:0031797	Clinical course	80254	CEP63	OMIM:614728
HP:0031797	Clinical course	51057	WDPCP	OMIM:217085
HP:0031797	Clinical course	55148	UBR7	OMIM:619189
HP:0031797	Clinical course	7170	TPM3	OMIM:255310
HP:0031797	Clinical course	79583	TMEM231	OMIM:614970
HP:0031797	Clinical course	79583	TMEM231	OMIM:615397
HP:0031797	Clinical course	23545	ATP6V0A2	OMIM:278250
HP:0031797	Clinical course	1954	MEGF8	OMIM:614976
HP:0031797	Clinical course	3070	HELLS	OMIM:616911
HP:0031797	Clinical course	83879	CDCA7	OMIM:616910
HP:0031797	Clinical course	27245	AHDC1	OMIM:615829
HP:0031797	Clinical course	6234	RPS28	OMIM:606164
HP:0031797	Clinical course	699	BUB1	OMIM:620183
HP:0031797	Clinical course	9653	HS2ST1	OMIM:619194
HP:0031797	Clinical course	23118	TAB2	OMIM:614980
HP:0031797	Clinical course	51660	MPC1	OMIM:614741
HP:0031797	Clinical course	25977	NECAP1	OMIM:615833
HP:0031797	Clinical course	84720	PIGO	OMIM:614749
HP:0031797	Clinical course	54499	TMCO1	OMIM:213980
HP:0031797	Clinical course	10907	TXNL4A	OMIM:608572
HP:0031797	Clinical course	2255	FGF10	OMIM:620193
HP:0031797	Clinical course	4036	LRP2	OMIM:222448
HP:0031797	Clinical course	8050	PDHX	OMIM:245349
HP:0031797	Clinical course	64327	LMBR1	OMIM:188740
HP:0031797	Clinical course	153562	MARVELD2	OMIM:610153
HP:0031797	Clinical course	2103	ESRRB	OMIM:608565
HP:0031797	Clinical course	2535	FZD2	OMIM:164745
HP:0031797	Clinical course	2652	OPN1MW	OMIM:303800
HP:0031797	Clinical course	6949	TCOF1	OMIM:154500
HP:0031797	Clinical course	55835	CENPJ	OMIM:613676
HP:0031797	Clinical course	55835	CENPJ	OMIM:608393
HP:0031797	Clinical course	1302	COL11A2	OMIM:614524
HP:0031797	Clinical course	1302	COL11A2	OMIM:215150
HP:0031797	Clinical course	3753	KCNE1	OMIM:612347
HP:0031797	Clinical course	10682	EBP	OMIM:302960
HP:0031797	Clinical course	171023	ASXL1	OMIM:605039
HP:0031797	Clinical course	84667	HES7	OMIM:613686
HP:0031797	Clinical course	220136	CFAP53	OMIM:614779
HP:0031797	Clinical course	80000	GREB1L	OMIM:617805
HP:0031797	Clinical course	80000	GREB1L	OMIM:619274
HP:0031797	Clinical course	23592	LEMD3	OMIM:166700
HP:0031797	Clinical course	5080	PAX6	OMIM:106210
HP:0031797	Clinical course	8243	SMC1A	OMIM:301044
HP:0031797	Clinical course	64116	SLC39A8	OMIM:616721
HP:0031797	Clinical course	1305	COL13A1	OMIM:616720
HP:0031797	Clinical course	79848	CSPP1	OMIM:615636
HP:0031797	Clinical course	1788	DNMT3A	OMIM:615879
HP:0031797	Clinical course	10586	MAB21L2	OMIM:615877
HP:0031797	Clinical course	55593	OTUD5	OMIM:301056
HP:0031797	Clinical course	84162	BLTP1	OMIM:617822
HP:0031797	Clinical course	10229	COQ7	OMIM:616733
HP:0031797	Clinical course	83479	DDX59	OMIM:174300
HP:0031797	Clinical course	10982	MAPRE2	OMIM:616734
HP:0031797	Clinical course	767	CA8	OMIM:613227
HP:0031797	Clinical course	5048	PAFAH1B1	OMIM:607432
HP:0031797	Clinical course	54820	NDE1	OMIM:605013
HP:0031797	Clinical course	54820	NDE1	OMIM:614019
HP:0031797	Clinical course	10735	STAG2	OMIM:301022
HP:0031797	Clinical course	55906	ZC4H2	OMIM:314580
HP:0031797	Clinical course	112802	KRT71	OMIM:615896
HP:0031797	Clinical course	388753	COA6	OMIM:616501
HP:0031797	Clinical course	493753	COA5	OMIM:616500
HP:0031797	Clinical course	2165	F13B	OMIM:613235
HP:0031797	Clinical course	55764	IFT122	OMIM:218330
HP:0031797	Clinical course	7286	TUFT1	OMIM:607655
HP:0031797	Clinical course	3479	IGF1	OMIM:608747
HP:0031797	Clinical course	25	ABL1	OMIM:617602
HP:0031797	Clinical course	5147	PDE6D	OMIM:615665
HP:0031797	Clinical course	128637	TBC1D20	OMIM:615663
HP:0031797	Clinical course	29980	DONSON	OMIM:617604
HP:0031797	Clinical course	29980	DONSON	OMIM:251230
HP:0031797	Clinical course	8195	MKKS	OMIM:605231
HP:0031797	Clinical course	64840	PORCN	OMIM:305600
HP:0031797	Clinical course	200879	LIPH	OMIM:604379
HP:0031797	Clinical course	2703	GJA8	OMIM:116200
HP:0031797	Clinical course	5333	PLCD1	OMIM:151600
HP:0031797	Clinical course	286410	ATP11C	OMIM:301015
HP:0031797	Clinical course	3955	LFNG	OMIM:609813
HP:0031797	Clinical course	59344	ALOXE3	OMIM:606545
HP:0031797	Clinical course	59344	ALOXE3	OMIM:242100
HP:0031797	Clinical course	3265	HRAS	OMIM:137550
HP:0031797	Clinical course	55617	TASP1	OMIM:618950
HP:0031797	Clinical course	114928	GPRASP2	OMIM:301018
HP:0031797	Clinical course	80210	ARMC9	OMIM:617622
HP:0031797	Clinical course	2625	GATA3	OMIM:146255
HP:0031797	Clinical course	925	CD8A	OMIM:608957
HP:0031797	Clinical course	259266	ASPM	OMIM:608716
HP:0031797	Clinical course	23247	KATNIP	OMIM:616784
HP:0031797	Clinical course	2737	GLI3	OMIM:174700
HP:0031797	Clinical course	2737	GLI3	OMIM:174200
HP:0031797	Clinical course	9786	KIAA0586	OMIM:616546
HP:0031797	Clinical course	4038	LRP4	OMIM:616304
HP:0031797	Clinical course	4038	LRP4	OMIM:212780
HP:0031797	Clinical course	387	RHOA	OMIM:618727
HP:0031797	Clinical course	3655	ITGA6	OMIM:619817
HP:0031797	Clinical course	6496	SIX3	OMIM:157170
HP:0031797	Clinical course	23288	IQCE	OMIM:617642
HP:0031797	Clinical course	1804	DPP6	OMIM:616311
HP:0031797	Clinical course	7700	ZNF141	OMIM:615226
HP:0031797	Clinical course	1140	CHRNB1	OMIM:616314
HP:0031797	Clinical course	1140	CHRNB1	OMIM:616313
HP:0031797	Clinical course	529	ATP6V1E1	OMIM:617402
HP:0031797	Clinical course	6155	RPL27	OMIM:617408
HP:0031797	Clinical course	9381	OTOF	OMIM:601071
HP:0031797	Clinical course	352909	DNAAF3	OMIM:606763
HP:0031797	Clinical course	246329	STAC3	OMIM:255995
HP:0031797	Clinical course	23141	ANKLE2	OMIM:616681
HP:0031797	Clinical course	10617	STAMBP	OMIM:614261
HP:0031797	Clinical course	91754	NEK9	OMIM:614262
HP:0031797	Clinical course	220	ALDH1A3	OMIM:615113
HP:0031797	Clinical course	10054	UBA2	OMIM:619959
HP:0031797	Clinical course	6938	TCF12	OMIM:619718
HP:0031797	Clinical course	6720	SREBF1	OMIM:158310
HP:0031797	Clinical course	10300	KATNB1	OMIM:616212
HP:0031797	Clinical course	6536	SLC6A9	OMIM:617301
HP:0031797	Clinical course	55159	RFWD3	OMIM:617784
HP:0031797	Clinical course	2201	FBN2	OMIM:121050
HP:0031797	Clinical course	84570	COL25A1	OMIM:616219
HP:0031797	Clinical course	10381	TUBB3	OMIM:614039
HP:0031797	Clinical course	28960	DCPS	OMIM:616459
HP:0031797	Clinical course	220202	ATOH7	OMIM:221900
HP:0031797	Clinical course	2626	GATA4	OMIM:607941
HP:0031797	Clinical course	2626	GATA4	OMIM:614429
HP:0031797	Clinical course	2626	GATA4	OMIM:614430
HP:0031797	Clinical course	2626	GATA4	OMIM:615542
HP:0031797	Clinical course	25885	POLR1A	OMIM:616462
HP:0031797	Clinical course	9469	CHST3	OMIM:143095
HP:0031797	Clinical course	7528	YY1	OMIM:617557
HP:0031797	Clinical course	9581	PREPL	OMIM:616224
HP:0031797	Clinical course	170825	GSX2	OMIM:618646
HP:0031797	Clinical course	8726	EED	OMIM:617561
HP:0031797	Clinical course	497661	C18orf32	OMIM:619985
HP:0031797	Clinical course	55714	TENM3	OMIM:615145
HP:0031797	Clinical course	84314	TMEM107	OMIM:617563
HP:0031797	Clinical course	269	AMHR2	OMIM:261550
HP:0031797	Clinical course	268	AMH	OMIM:261550
HP:0031797	Clinical course	56992	KIF15	OMIM:619981
HP:0031797	Clinical course	55521	TRIM36	OMIM:206500
HP:0031797	Clinical course	23268	DNMBP	OMIM:618415
HP:0031797	Clinical course	8642	DCHS1	OMIM:601390
HP:0031797	Clinical course	8241	RBM10	OMIM:311900
HP:0031797	Clinical course	6820	SULT2B1	OMIM:617571
HP:0031797	Clinical course	83861	RSPH3	OMIM:616481
HP:0031797	Clinical course	1349	COX7B	OMIM:309801
HP:0031797	Clinical course	3052	HCCS	OMIM:309801
HP:0031797	Clinical course	7862	BRPF1	OMIM:617333
HP:0031797	Clinical course	121214	SDR9C7	OMIM:617574
HP:0031797	Clinical course	8363	H4C11	OMIM:619759
HP:0031797	Clinical course	1001	CDH3	OMIM:225280
HP:0031797	Clinical course	9453	GGPS1	OMIM:619518
HP:0031797	Clinical course	3481	IGF2	OMIM:616489
HP:0031797	Clinical course	9841	ZBTB24	OMIM:614069
HP:0031797	Clinical course	8364	H4C3	OMIM:619758
HP:0031797	Clinical course	145258	GSC	OMIM:602471
HP:0031797	Clinical course	2248	FGF3	OMIM:610706
HP:0031797	Clinical course	388552	BLOC1S3	OMIM:614077
HP:0031797	Clinical course	54928	BPNT2	OMIM:614078
HP:0031797	Clinical course	51098	IFT52	OMIM:617102
HP:0031797	Clinical course	53335	BCL11A	OMIM:617101
HP:0031797	Clinical course	9158	FIBP	OMIM:617107
HP:0031797	Clinical course	7140	TNNT3	OMIM:618435
HP:0031797	Clinical course	51341	ZBTB7A	OMIM:619769
HP:0031797	Clinical course	147409	DSG4	OMIM:607903
HP:0031797	Clinical course	23556	PIGN	OMIM:614080
HP:0031797	Clinical course	4621	MYH3	OMIM:178110
HP:0031797	Clinical course	57479	PRR12	OMIM:619539
HP:0031797	Clinical course	5818	NECTIN1	OMIM:225060
HP:0031797	Clinical course	4851	NOTCH1	OMIM:616028
HP:0031797	Clinical course	7994	KAT6A	OMIM:616268
HP:0031797	Clinical course	23189	KANK1	OMIM:612900
HP:0031797	Clinical course	10195	ALG3	OMIM:601110
HP:0031797	Clinical course	1749	DLX5	OMIM:220600
HP:0031797	Clinical course	8621	CDK13	OMIM:617360
HP:0031797	Clinical course	1419	CRYGB	OMIM:615188
HP:0031797	Clinical course	51117	COQ4	OMIM:616276
HP:0031797	Clinical course	3763	KCNJ6	OMIM:614098
HP:0031797	Clinical course	5587	PRKD1	OMIM:617364
HP:0031797	Clinical course	93587	TRMT10A	OMIM:616033
HP:0031797	Clinical course	120766137	HRURF	OMIM:146550
HP:0031797	Clinical course	115948	ODAD3	OMIM:616037
HP:0031797	Clinical course	5898	RALA	OMIM:619311
HP:0031797	Clinical course	6909	TBX2	OMIM:618223
HP:0031797	Clinical course	6477	SIAH1	OMIM:619314
HP:0031797	Clinical course	54892	NCAPG2	OMIM:618460
HP:0031797	Clinical course	85476	GFM1	OMIM:609060
HP:0031797	Clinical course	6650	CAPN15	OMIM:619318
HP:0031797	Clinical course	23384	SPECC1L	OMIM:600251
HP:0031797	Clinical course	23384	SPECC1L	OMIM:145420
HP:0031797	Clinical course	54765	TRIM44	OMIM:617142
HP:0031797	Clinical course	26610	ELP4	OMIM:617141
HP:0031797	Clinical course	29078	NDUFAF4	OMIM:618237
HP:0031797	Clinical course	4081	MAB21L1	OMIM:618479
HP:0031797	Clinical course	9179	AP4M1	OMIM:612936
HP:0031797	Clinical course	10940	POP1	OMIM:617396
HP:0031797	Clinical course	2530	FUT8	OMIM:618005
HP:0031797	Clinical course	1956	EGFR	OMIM:616069
HP:0031797	Clinical course	54496	PRMT7	OMIM:617157
HP:0031797	Clinical course	23414	ZFPM2	OMIM:616067
HP:0031797	Clinical course	8260	NAA10	OMIM:300855
HP:0031797	Clinical course	92344	GORAB	OMIM:231070
HP:0031797	Clinical course	6491	STIL	OMIM:612703
HP:0031797	Clinical course	6768	ST14	OMIM:602400
HP:0031797	Clinical course	10524	KAT5	OMIM:619103
HP:0031797	Clinical course	372	ARCN1	OMIM:617164
HP:0031797	Clinical course	285600	KIAA0825	OMIM:618498
HP:0031797	Clinical course	115399	LRRC56	OMIM:618254
HP:0031797	Clinical course	5000	ORC4	OMIM:613800
HP:0031797	Clinical course	84668	HYCC1	OMIM:610532
HP:0031797	Clinical course	2683	B4GALT1	OMIM:607091
HP:0031797	Clinical course	4990	SIX6	OMIM:206900
HP:0031797	Clinical course	4990	SIX6	OMIM:212550
HP:0031797	Clinical course	6657	SOX2	OMIM:206900
HP:0031797	Clinical course	81620	CDT1	OMIM:613804
HP:0031797	Clinical course	23594	ORC6	OMIM:613803
HP:0031797	Clinical course	990	CDC6	OMIM:613805
HP:0031797	Clinical course	1021	CDK6	OMIM:616080
HP:0031797	Clinical course	5281	PIGF	OMIM:619356
HP:0031797	Clinical course	29895	MYL11	OMIM:619110
HP:0031797	Clinical course	340419	RSPO2	OMIM:618021
HP:0031797	Clinical course	5702	PSMC3	OMIM:619354
HP:0031797	Clinical course	79005	SCNM1	OMIM:620107
HP:0031797	Clinical course	50846	DHH	OMIM:607080
HP:0031797	Clinical course	23405	DICER1	OMIM:618272
HP:0031797	Clinical course	55755	CDK5RAP2	OMIM:604804
HP:0031797	Clinical course	10220	GDF11	OMIM:619122
HP:0031797	Clinical course	90416	CCDC32	OMIM:619123
HP:0031797	Clinical course	10161	LPAR6	OMIM:278150
HP:0031797	Clinical course	22995	CEP152	OMIM:613823
HP:0031797	Clinical course	4604	MYBPC1	OMIM:614915
HP:0031797	Clinical course	55252	ASXL2	OMIM:617190
HP:0031797	Clinical course	4140	MARK3	OMIM:618283
HP:0031797	Clinical course	7390	UROS	OMIM:263700
HP:0031797	Clinical course	3739	KCNA4	OMIM:618284
HP:0031797	Clinical course	1984	EIF5A	OMIM:619376
HP:0031797	Clinical course	2733	GLE1	OMIM:611890
HP:0031797	Clinical course	210	ALAD	OMIM:612740
HP:0031797	Clinical course	59	ACTA2	OMIM:613834
HP:0031797	Clinical course	5076	PAX2	OMIM:120330
HP:0031797	Clinical course	224	ALDH3A2	OMIM:270200
HP:0031797	Clinical course	5566	PRKACA	OMIM:619142
HP:0031797	Clinical course	5567	PRKACB	OMIM:619143
HP:0031797	Clinical course	146059	CDAN1	OMIM:224120
HP:0031797	Clinical course	8823	FGF16	OMIM:309630
HP:0031797	Clinical course	3480	IGF1R	OMIM:270450
HP:0031797	Clinical course	3476	IGBP1	OMIM:300472
HP:0031797	Clinical course	11113	CIT	OMIM:617090
HP:0031797	Clinical course	10262	SF3B4	OMIM:154400
HP:0031797	Clinical course	4091	SMAD6	OMIM:614823
HP:0031797	Clinical course	10992	SF3B2	OMIM:164210
HP:0031797	Clinical course	3048	HBG2	OMIM:613977
HP:0031797	Clinical course	8496	PPFIBP1	OMIM:620024
HP:0031797	Clinical course	3239	HOXD13	OMIM:186000
HP:0031797	Clinical course	4281	MID1	OMIM:300000
HP:0031797	Clinical course	8443	GNPAT	OMIM:222765
HP:0031797	Clinical course	162	AP1B1	OMIM:242150
HP:0031797	Clinical course	4649	MYO9A	OMIM:618198
HP:0031797	Clinical course	4882	NPR2	OMIM:615923
HP:0031797	Clinical course	93	ACVR2B	OMIM:613751
HP:0031797	Clinical course	10015	PDCD6IP	OMIM:620047
HP:0031797	Clinical course	894	CCND2	OMIM:615938
HP:0031797	Clinical course	7841	MOGS	OMIM:606056
HP:0031797	Clinical course	8546	AP3B1	OMIM:608233
HP:0031797	Clinical course	860	RUNX2	OMIM:119600
HP:0031797	Clinical course	4212	MEIS2	OMIM:600987
HP:0031797	Clinical course	4697	NDUFA4	OMIM:619065
HP:0031797	Clinical course	51199	NIN	OMIM:614851
HP:0031797	Clinical course	5144	PDE4D	OMIM:614613
HP:0031797	Clinical course	649	BMP1	OMIM:614856
HP:0031797	Clinical course	51021	MRPS16	OMIM:610498
HP:0031797	Clinical course	26005	C2CD3	OMIM:615948
HP:0031797	Clinical course	1906	EDN1	OMIM:615706
HP:0031797	Clinical course	374393	FAM111B	OMIM:615704
HP:0031797	Clinical course	6911	TBX6	OMIM:122600
HP:0031797	Clinical course	117531	TMC1	OMIM:600974
HP:0031797	Clinical course	222546	RFX6	OMIM:615710
HP:0031797	Clinical course	54084	TSPEAR	OMIM:614861
HP:0031797	Clinical course	10518	CIB2	OMIM:614869
HP:0031797	Clinical course	10236	HNRNPR	OMIM:620073
HP:0031797	Clinical course	78989	COLEC11	OMIM:265050
HP:0031797	Clinical course	6558	SLC12A2	OMIM:619080
HP:0031797	Clinical course	402	ARL2	OMIM:619082
HP:0031797	Clinical course	488	ATP2A2	OMIM:101900
HP:0031797	Clinical course	1588	CYP19A1	OMIM:613546
HP:0031797	Clinical course	471	ATIC	OMIM:608688
HP:0031797	Clinical course	3187	HNRNPH1	OMIM:620083
HP:0031797	Clinical course	2059	EPS8	OMIM:615974
HP:0031797	Clinical course	26022	TMEM98	OMIM:615972
HP:0031797	Clinical course	140628	GATA5	OMIM:617912
HP:0031797	Clinical course	11023	VAX1	OMIM:614402
HP:0031797	Clinical course	9775	EIF4A3	OMIM:268305
HP:0031797	Clinical course	25861	WHRN	OMIM:611383
HP:0031797	Clinical course	585	BBS4	OMIM:615982
HP:0031797	Clinical course	51475	CABP2	OMIM:614899
HP:0031797	Clinical course	166379	BBS12	OMIM:615989
HP:0031797	Clinical course	10664	CTCF	OMIM:615502
HP:0031797	Clinical course	27241	BBS9	OMIM:615986
HP:0031797	Clinical course	1828	DSG1	OMIM:615508
HP:0031797	Clinical course	7051	TGM1	OMIM:242300
HP:0031797	Clinical course	579	NKX3-2	OMIM:613330
HP:0031797	Clinical course	4683	NBN	OMIM:251260
HP:0031797	Clinical course	11020	IFT27	OMIM:615996
HP:0031797	Clinical course	81607	NECTIN4	OMIM:613573
HP:0031797	Clinical course	54585	LZTFL1	OMIM:615994
HP:0031797	Clinical course	1417	CRYBB3	OMIM:609741
HP:0031797	Clinical course	8556	CDC14A	OMIM:608653
HP:0031797	Clinical course	91179	SCARF2	OMIM:600920
HP:0031797	Clinical course	9662	CEP135	OMIM:614673
HP:0031797	Clinical course	10370	CITED2	OMIM:614431
HP:0031797	Clinical course	1482	NKX2-5	OMIM:614432
HP:0031797	Clinical course	1482	NKX2-5	OMIM:614435
HP:0031797	Clinical course	388389	CCDC103	OMIM:614679
HP:0031797	Clinical course	30008	EFEMP2	OMIM:614437
HP:0031797	Clinical course	5915	RARB	OMIM:615524
HP:0031797	Clinical course	51010	EXOSC3	OMIM:614678
HP:0031797	Clinical course	55997	CFC1	OMIM:605376
HP:0031797	Clinical course	5932	RBBP8	OMIM:251255
HP:0031797	Clinical course	78987	CRELD1	OMIM:606217
HP:0031797	Clinical course	203068	TUBB	OMIM:615771
HP:0031797	Clinical course	10265	IRX5	OMIM:611174
HP:0031797	Clinical course	81027	TUBB1	OMIM:613112
HP:0031797	Clinical course	7026	NR2F2	OMIM:615779
HP:0031797	Clinical course	51008	ASCC1	OMIM:616867
HP:0031797	Clinical course	29940	DSE	OMIM:615539
HP:0031797	Clinical course	91647	ATPAF2	OMIM:604273
HP:0031797	Clinical course	727857	BHLHA9	OMIM:607539
HP:0031797	Clinical course	338917	VSX2	OMIM:610093
HP:0031797	Clinical course	79796	ALG9	OMIM:263210
HP:0031797	Clinical course	79633	FAT4	OMIM:615546
HP:0031797	Clinical course	55644	OSGEP	OMIM:617729
HP:0031797	Clinical course	57572	DOCK6	OMIM:614219
HP:0031797	Clinical course	242	ALOX12B	OMIM:242100
HP:0031797	Clinical course	401	PHOX2A	OMIM:602078
HP:0031797	Clinical course	348938	NIPAL4	OMIM:612281
HP:0031797	Clinical course	6138	RPL15	OMIM:615550
HP:0031797	Clinical course	163786	SASS6	OMIM:616402
HP:0031797	Clinical course	25782	RAB3GAP2	OMIM:614225
HP:0031797	Clinical course	22931	RAB18	OMIM:614222
HP:0031797	Clinical course	3039	HBA1	OMIM:617973
HP:0031797	Clinical course	3199	HOXA2	OMIM:612290
HP:0031797	Clinical course	51124	IER3IP1	OMIM:614231
HP:0031797	Clinical course	9918	NCAPD2	OMIM:617983
HP:0031797	Clinical course	54870	QRICH1	OMIM:617982
HP:0031797	Clinical course	2627	GATA6	OMIM:614474
HP:0031797	Clinical course	2627	GATA6	OMIM:614475
HP:0031797	Clinical course	11005	SPINK5	OMIM:256500
HP:0031797	Clinical course	23397	NCAPH	OMIM:617985
HP:0031797	Clinical course	55704	CCDC88A	OMIM:617507
HP:0031797	Clinical course	3284	HSD3B2	OMIM:201810
HP:0031797	Clinical course	7431	VIM	OMIM:116300
HP:0031797	Clinical course	1663	DDX11	OMIM:613398
HP:0031797	Clinical course	119559	SFXN4	OMIM:615578
HP:0031797	Clinical course	51684	SUFU	OMIM:617757
HP:0031797	Clinical course	9439	MED23	OMIM:614249
HP:0031797	Clinical course	22827	PUF60	OMIM:615583
HP:0031797	Clinical course	2815	GP9	OMIM:231200
HP:0031797	Clinical course	2811	GP1BA	OMIM:231200
HP:0031797	Clinical course	2812	GP1BB	OMIM:231200
HP:0031797	Clinical course	29089	UBE2T	OMIM:616435
HP:0031797	Clinical course	127534	GJB4	OMIM:617524
HP:0031797	Clinical course	85378	TUBGCP6	OMIM:251270
HP:0031797	Clinical course	9181	ARHGEF2	OMIM:617523
HP:0031797	Clinical course	6688	SPI1	OMIM:619707
HP:0031797	Clinical course	9373	PLAA	OMIM:617527
HP:0031797	Clinical course	100128908	CIROP	OMIM:619702
HP:0031797	Clinical course	2531	KDSR	OMIM:617526
HP:0031797	Clinical course	735	C9	OMIM:615591
HP:0031797	Clinical course	5949	RBP3	OMIM:615233
HP:0031797	Clinical course	25913	POT1	OMIM:616568
HP:0031797	Clinical course	25913	POT1	OMIM:615848
HP:0031797	Clinical course	27327	TNRC6A	OMIM:618074
HP:0031797	Clinical course	2767	GNA11	OMIM:615361
HP:0031797	Clinical course	9693	RAPGEF2	OMIM:618075
HP:0031797	Clinical course	64072	CDH23	OMIM:617540
HP:0031797	Clinical course	101060691	NUTM2B-AS1	OMIM:618637
HP:0031797	Clinical course	2642	GCGR	OMIM:619290
HP:0031797	Clinical course	23347	SMCHD1	OMIM:158901
HP:0031797	Clinical course	4089	SMAD4	OMIM:260350
HP:0031797	Clinical course	9639	ARHGEF10	OMIM:608236
HP:0031797	Clinical course	6687	SPG7	OMIM:607259
HP:0031797	Clinical course	4582	MUC1	OMIM:174000
HP:0031797	Clinical course	29880	ALG5	OMIM:620056
HP:0031797	Clinical course	7012	TERC	OMIM:614743
HP:0031797	Clinical course	79798	ARMC5	OMIM:615954
HP:0031797	Clinical course	8557	TCAP	OMIM:607487
HP:0031797	Clinical course	8048	CSRP3	OMIM:607482
HP:0031797	Clinical course	8048	CSRP3	OMIM:612124
HP:0031797	Clinical course	4040	LRP6	OMIM:610947
HP:0031797	Clinical course	3931	LCAT	OMIM:245900
HP:0031797	Clinical course	51750	RTEL1	OMIM:616373
HP:0031797	Clinical course	80206	FHOD3	OMIM:619402
HP:0031797	Clinical course	9247	GCM2	OMIM:617343
HP:0031797	Clinical course	866	SERPINA6	OMIM:611489
HP:0031797	Clinical course	4205	MEF2A	OMIM:608320
HP:0031797	Clinical course	1769	DNAH8	OMIM:619095
HP:0031797	Clinical course	9180	OSMR	OMIM:105250
HP:0031797	Clinical course	4846	NOS3	OMIM:601367
HP:0031797	Clinical course	4846	NOS3	OMIM:104300
HP:0031797	Clinical course	5583	PRKCH	OMIM:601367
HP:0031797	Clinical course	241	ALOX5AP	OMIM:601367
HP:0031797	Clinical course	64241	ABCG8	OMIM:210250
HP:0031797	Clinical course	3617	IMPG1	OMIM:616151
HP:0031797	Clinical course	5424	POLD1	OMIM:612591
HP:0031797	Clinical course	11231	SEC63	OMIM:617004
HP:0031797	Clinical course	57592	ZNF687	OMIM:616833
HP:0031797	Clinical course	2157	F8	OMIM:301071
HP:0031797	Clinical course	2934	GSN	OMIM:105120
HP:0031797	Clinical course	6310	ATXN1	OMIM:164400
HP:0031797	Clinical course	8076	MFAP5	OMIM:616166
HP:0031797	Clinical course	1356	CP	OMIM:604290
HP:0031797	Clinical course	4353	MPO	OMIM:104300
HP:0031797	Clinical course	5328	PLAU	OMIM:104300
HP:0031797	Clinical course	2495	FTH1	OMIM:615517
HP:0031797	Clinical course	669	BPGM	OMIM:222800
HP:0031797	Clinical course	1743	DLST	OMIM:618475
HP:0031797	Clinical course	6598	SMARCB1	OMIM:162091
HP:0031797	Clinical course	123624	AGBL1	OMIM:615523
HP:0031797	Clinical course	4363	ABCC1	OMIM:618915
HP:0031797	Clinical course	2027	ENO3	OMIM:612932
HP:0031797	Clinical course	6391	SDHC	OMIM:605373
HP:0031797	Clinical course	55737	VPS35	OMIM:614203
HP:0031797	Clinical course	56244	BTNL2	OMIM:612387
HP:0031797	Clinical course	3273	HRG	OMIM:613116
HP:0031797	Clinical course	2771	GNAI2	OMIM:192605
HP:0031797	Clinical course	219972	MPEG1	OMIM:619223
HP:0031797	Clinical course	51428	DDX41	OMIM:616871
HP:0031797	Clinical course	130951	M1AP	OMIM:619108
HP:0031797	Clinical course	3981	LIG4	OMIM:254500
HP:0031797	Clinical course	5137	PDE1C	OMIM:618140
HP:0031797	Clinical course	1789	DNMT3B	OMIM:619478
HP:0031797	Clinical course	6336	SCN10A	OMIM:615551
HP:0031797	Clinical course	8216	LZTR1	OMIM:615670
HP:0031797	Clinical course	115650	TNFRSF13C	OMIM:613494
HP:0031797	Clinical course	6935	ZEB1	OMIM:609141
HP:0031797	Clinical course	5592	PRKG1	OMIM:615436
HP:0031797	Clinical course	5589	PRKCSH	OMIM:174050
HP:0031797	Clinical course	54949	SDHAF2	OMIM:601650
HP:0031797	Clinical course	7504	XK	OMIM:300842
HP:0031797	Clinical course	10699	CORIN	OMIM:614595
HP:0031797	Clinical course	4913	NTHL1	OMIM:616415
HP:0031797	Clinical course	3123	HLA-DRB1	OMIM:181000
HP:0031797	Clinical course	3123	HLA-DRB1	OMIM:126200
HP:0031797	Clinical course	4221	MEN1	OMIM:131100
HP:0031797	Clinical course	7056	THBD	OMIM:614486
HP:0031797	Clinical course	6522	SLC4A2	OMIM:620366
HP:0031797	Clinical course	65057	ACD	OMIM:616553
HP:0031797	Clinical course	6041	RNASEL	OMIM:601518
HP:0031797	Clinical course	159686	CFAP58	OMIM:619144
HP:0031797	Clinical course	999	CDH1	OMIM:137215
HP:0031797	Clinical course	5630	PRPH	OMIM:105400
HP:0031797	Clinical course	4330	MN1	OMIM:607174
HP:0031797	Clinical course	6605	SMARCE1	OMIM:607174
HP:0031797	Clinical course	5133	PDCD1	OMIM:126200
HP:0031797	Clinical course	114902	C1QTNF5	OMIM:605670
HP:0031797	Clinical course	146227	BEAN1	OMIM:117210
HP:0031797	Clinical course	6208	RPS14	OMIM:153550
HP:0031797	Clinical course	3875	KRT18	OMIM:215600
HP:0031797	Clinical course	644	BLVRA	OMIM:614156
HP:0031797	Clinical course	83872	HMCN1	OMIM:603075
HP:0031797	Clinical course	3078	CFHR1	OMIM:603075
HP:0031797	Clinical course	10878	CFHR3	OMIM:603075
HP:0031797	Clinical course	11155	LDB3	OMIM:609452
HP:0031797	Clinical course	3818	KLKB1	OMIM:612423
HP:0031797	Clinical course	10347	ABCA7	OMIM:608907
HP:0031797	Clinical course	79719	AAGAB	OMIM:148600
HP:0031797	Clinical course	6934	TCF7L2	OMIM:125853
HP:0031797	Clinical course	3569	IL6	OMIM:125853
HP:0031797	Clinical course	3990	LIPC	OMIM:125853
HP:0031797	Clinical course	9479	MAPK8IP1	OMIM:125853
HP:0031797	Clinical course	56729	RETN	OMIM:125853
HP:0031797	Clinical course	4544	MTNR1B	OMIM:125853
HP:0031797	Clinical course	5506	PPP1R3A	OMIM:125853
HP:0031797	Clinical course	10644	IGF2BP2	OMIM:125853
HP:0031797	Clinical course	5770	PTPN1	OMIM:125853
HP:0031797	Clinical course	8660	IRS2	OMIM:125853
HP:0031797	Clinical course	3159	HMGA1	OMIM:125853
HP:0031797	Clinical course	5078	PAX4	OMIM:125853
HP:0031797	Clinical course	6928	HNF1B	OMIM:125853
HP:0031797	Clinical course	3667	IRS1	OMIM:125853
HP:0031797	Clinical course	4760	NEUROD1	OMIM:125853
HP:0031797	Clinical course	169026	SLC30A8	OMIM:125853
HP:0031797	Clinical course	2820	GPD2	OMIM:125853
HP:0031797	Clinical course	2673	GFPT1	OMIM:608931
HP:0031797	Clinical course	1145	CHRNE	OMIM:608931
HP:0031797	Clinical course	1145	CHRNE	OMIM:616324
HP:0031797	Clinical course	7428	VHL	OMIM:263400
HP:0031797	Clinical course	3071	NCKAP1L	OMIM:618982
HP:0031797	Clinical course	51256	TBC1D7	OMIM:248000
HP:0031797	Clinical course	340533	NEXMIF	OMIM:300912
HP:0031797	Clinical course	2775	GNAO1	OMIM:615473
HP:0031797	Clinical course	2775	GNAO1	OMIM:617493
HP:0031797	Clinical course	23135	KDM6B	OMIM:618505
HP:0031797	Clinical course	79827	CLMP	OMIM:615237
HP:0031797	Clinical course	4593	MUSK	OMIM:616325
HP:0031797	Clinical course	7291	TWIST1	OMIM:123100
HP:0031797	Clinical course	7291	TWIST1	OMIM:180750
HP:0031797	Clinical course	55240	STEAP3	OMIM:615234
HP:0031797	Clinical course	23334	SZT2	OMIM:615476
HP:0031797	Clinical course	4919	ROR1	OMIM:617654
HP:0031797	Clinical course	9254	CACNA2D2	OMIM:618501
HP:0031797	Clinical course	3767	KCNJ11	OMIM:616329
HP:0031797	Clinical course	3767	KCNJ11	OMIM:610582
HP:0031797	Clinical course	4552	MTRR	OMIM:236270
HP:0031797	Clinical course	54332	GDAP1	OMIM:607831
HP:0031797	Clinical course	54332	GDAP1	OMIM:214400
HP:0031797	Clinical course	54332	GDAP1	OMIM:608340
HP:0031797	Clinical course	56704	JPH1	OMIM:607831
HP:0031797	Clinical course	161582	DNAAF4	OMIM:615482
HP:0031797	Clinical course	4210	MEFV	OMIM:249100
HP:0031797	Clinical course	283489	CHAMP1	OMIM:616579
HP:0031797	Clinical course	477	ATP1A2	OMIM:619605
HP:0031797	Clinical course	1841	DTYMK	OMIM:619847
HP:0031797	Clinical course	6487	ST3GAL3	OMIM:615006
HP:0031797	Clinical course	478	ATP1A3	OMIM:619606
HP:0031797	Clinical course	478	ATP1A3	OMIM:601338
HP:0031797	Clinical course	166378	AFG2A	OMIM:616577
HP:0031797	Clinical course	84936	ZFYVE19	OMIM:619849
HP:0031797	Clinical course	7532	YWHAG	OMIM:617665
HP:0031797	Clinical course	55904	KMT2E	OMIM:618512
HP:0031797	Clinical course	84520	GON7	OMIM:619603
HP:0031797	Clinical course	1161	ERCC8	OMIM:216400
HP:0031797	Clinical course	1161	ERCC8	OMIM:614621
HP:0031797	Clinical course	79158	GNPTAB	OMIM:252500
HP:0031797	Clinical course	79693	YRDC	OMIM:619609
HP:0031797	Clinical course	4625	MYH7	OMIM:160500
HP:0031797	Clinical course	4625	MYH7	OMIM:613426
HP:0031797	Clinical course	284403	WDR62	OMIM:604317
HP:0031797	Clinical course	7054	TH	OMIM:605407
HP:0031797	Clinical course	2212	FCGR2A	OMIM:219700
HP:0031797	Clinical course	7040	TGFB1	OMIM:219700
HP:0031797	Clinical course	1080	CFTR	OMIM:219700
HP:0031797	Clinical course	1896	EDA	OMIM:305100
HP:0031797	Clinical course	55687	TRMU	OMIM:613070
HP:0031797	Clinical course	4318	MMP9	OMIM:613073
HP:0031797	Clinical course	23321	TRIM2	OMIM:615490
HP:0031797	Clinical course	818	CAMK2G	OMIM:618522
HP:0031797	Clinical course	54453	RIN2	OMIM:613075
HP:0031797	Clinical course	5105	PCK1	OMIM:261680
HP:0031797	Clinical course	6884	TAF13	OMIM:617432
HP:0031797	Clinical course	103	ADAR	OMIM:615010
HP:0031797	Clinical course	103	ADAR	OMIM:127400
HP:0031797	Clinical course	7343	UBTF	OMIM:617672
HP:0031797	Clinical course	6844	VAMP2	OMIM:618760
HP:0031797	Clinical course	79029	AFG2B	OMIM:619616
HP:0031797	Clinical course	64834	ELOVL1	OMIM:618527
HP:0031797	Clinical course	7852	CXCR4	OMIM:193670
HP:0031797	Clinical course	1759	DNM1	OMIM:616346
HP:0031797	Clinical course	1759	DNM1	OMIM:620352
HP:0031797	Clinical course	3064	HTT	OMIM:617435
HP:0031797	Clinical course	7436	VLDLR	OMIM:224050
HP:0031797	Clinical course	3614	IMPDH1	OMIM:180105
HP:0031797	Clinical course	90167	FRMD7	OMIM:310700
HP:0031797	Clinical course	1105	CHD1	OMIM:617682
HP:0031797	Clinical course	5297	PI4KA	OMIM:619621
HP:0031797	Clinical course	5297	PI4KA	OMIM:619708
HP:0031797	Clinical course	8789	FBP2	OMIM:619864
HP:0031797	Clinical course	57231	SNX14	OMIM:616354
HP:0031797	Clinical course	23327	NEDD4L	OMIM:617201
HP:0031797	Clinical course	5073	PARN	OMIM:616353
HP:0031797	Clinical course	3340	NDST1	OMIM:616116
HP:0031797	Clinical course	58484	NLRC4	OMIM:616115
HP:0031797	Clinical course	284184	NDUFAF8	OMIM:618776
HP:0031797	Clinical course	4645	MYO5B	OMIM:619868
HP:0031797	Clinical course	4247	MGAT2	OMIM:212066
HP:0031797	Clinical course	5373	PMM2	OMIM:212065
HP:0031797	Clinical course	167691	LCA5	OMIM:604537
HP:0031797	Clinical course	113612	CYP2U1	OMIM:615030
HP:0031797	Clinical course	30009	TBX21	OMIM:619630
HP:0031797	Clinical course	55768	NGLY1	OMIM:615273
HP:0031797	Clinical course	26038	CHD5	OMIM:619873
HP:0031797	Clinical course	5034	P4HB	OMIM:112240
HP:0031797	Clinical course	8482	SEMA7A	OMIM:619874
HP:0031797	Clinical course	55621	TRMT1	OMIM:618302
HP:0031797	Clinical course	3737	KCNA2	OMIM:616366
HP:0031797	Clinical course	23126	POGZ	OMIM:616364
HP:0031797	Clinical course	55773	TBC1D23	OMIM:617695
HP:0031797	Clinical course	57680	CHD8	OMIM:615032
HP:0031797	Clinical course	3769	KCNJ13	OMIM:614186
HP:0031797	Clinical course	5593	PRKG2	OMIM:619638
HP:0031797	Clinical course	55280	CWF19L1	OMIM:616127
HP:0031797	Clinical course	92609	TIMM50	OMIM:617698
HP:0031797	Clinical course	51692	CPSF3	OMIM:619876
HP:0031797	Clinical course	116115	ZNF526	OMIM:619877
HP:0031797	Clinical course	7173	TPO	OMIM:274500
HP:0031797	Clinical course	111	ADCY5	OMIM:606703
HP:0031797	Clinical course	111	ADCY5	OMIM:619651
HP:0031797	Clinical course	3507	IGHM	OMIM:601495
HP:0031797	Clinical course	5605	MAP2K2	OMIM:615280
HP:0031797	Clinical course	5244	ABCB4	OMIM:602347
HP:0031797	Clinical course	54828	BCAS3	OMIM:619641
HP:0031797	Clinical course	8989	TRPA1	OMIM:615040
HP:0031797	Clinical course	57169	ZNFX1	OMIM:619644
HP:0031797	Clinical course	6329	SCN4A	OMIM:614198
HP:0031797	Clinical course	6329	SCN4A	OMIM:170500
HP:0031797	Clinical course	6329	SCN4A	OMIM:170400
HP:0031797	Clinical course	6329	SCN4A	OMIM:168300
HP:0031797	Clinical course	56098	PCDHGC4	OMIM:619880
HP:0031797	Clinical course	11311	VPS45	OMIM:615285
HP:0031797	Clinical course	10991	SLC38A3	OMIM:619881
HP:0031797	Clinical course	27068	PPA2	OMIM:617222
HP:0031797	Clinical course	113179	ADAT3	OMIM:615286
HP:0031797	Clinical course	1742	DLG4	OMIM:618793
HP:0031797	Clinical course	2904	GRIN2B	OMIM:616139
HP:0031797	Clinical course	4285	MIPEP	OMIM:617228
HP:0031797	Clinical course	641	BLM	OMIM:210900
HP:0031797	Clinical course	476	ATP1A1	OMIM:618314
HP:0031797	Clinical course	10531	PITRM1	OMIM:619405
HP:0031797	Clinical course	79971	WLS	OMIM:619648
HP:0031797	Clinical course	6901	TAFAZZIN	OMIM:302060
HP:0031797	Clinical course	57609	DIP2B	OMIM:136630
HP:0031797	Clinical course	4488	MSX2	OMIM:604757
HP:0031797	Clinical course	3861	KRT14	OMIM:601001
HP:0031797	Clinical course	3861	KRT14	OMIM:131900
HP:0031797	Clinical course	23299	BICD2	OMIM:615290
HP:0031797	Clinical course	4351	MPI	OMIM:602579
HP:0031797	Clinical course	92749	DRC1	OMIM:615294
HP:0031797	Clinical course	55739	NAXD	OMIM:618321
HP:0031797	Clinical course	5354	PLP1	OMIM:312080
HP:0031797	Clinical course	5354	PLP1	OMIM:312920
HP:0031797	Clinical course	7143	TNR	OMIM:619653
HP:0031797	Clinical course	6843	VAMP1	OMIM:618323
HP:0031797	Clinical course	5917	RARS1	OMIM:616140
HP:0031797	Clinical course	3423	IDS	OMIM:309900
HP:0031797	Clinical course	8565	YARS1	OMIM:619418
HP:0031797	Clinical course	6572	SLC18A3	OMIM:617239
HP:0031797	Clinical course	2260	FGFR1	OMIM:166250
HP:0031797	Clinical course	5741	PTH	OMIM:146200
HP:0031797	Clinical course	2720	GLB1	OMIM:230500
HP:0031797	Clinical course	23499	MACF1	OMIM:618325
HP:0031797	Clinical course	54532	USP53	OMIM:619658
HP:0031797	Clinical course	6533	SLC6A6	OMIM:145350
HP:0031797	Clinical course	3339	HSPG2	OMIM:255800
HP:0031797	Clinical course	6476	SI	OMIM:222900
HP:0031797	Clinical course	10533	ATG7	OMIM:619422
HP:0031797	Clinical course	9742	IFT140	OMIM:266920
HP:0031797	Clinical course	205327	C2orf69	OMIM:619423
HP:0031797	Clinical course	1523	CUX1	OMIM:618330
HP:0031797	Clinical course	55151	TMEM38B	OMIM:615066
HP:0031797	Clinical course	113220	KIF12	OMIM:619662
HP:0031797	Clinical course	120	ADD3	OMIM:617008
HP:0031797	Clinical course	3000	GUCY2D	OMIM:204000
HP:0031797	Clinical course	7535	ZAP70	OMIM:617006
HP:0031797	Clinical course	7535	ZAP70	OMIM:269840
HP:0031797	Clinical course	5813	PURA	OMIM:616158
HP:0031797	Clinical course	5426	POLE	OMIM:618336
HP:0031797	Clinical course	1642	DDB1	OMIM:619426
HP:0031797	Clinical course	2744	GLS	OMIM:618339
HP:0031797	Clinical course	3242	HPD	OMIM:276710
HP:0031797	Clinical course	3242	HPD	OMIM:140350
HP:0031797	Clinical course	389827	MYMK	OMIM:254940
HP:0031797	Clinical course	8322	FZD4	OMIM:133780
HP:0031797	Clinical course	4041	LRP5	OMIM:133780
HP:0031797	Clinical course	4041	LRP5	OMIM:259770
HP:0031797	Clinical course	4041	LRP5	OMIM:601813
HP:0031797	Clinical course	9949	AMMECR1	OMIM:300990
HP:0031797	Clinical course	2074	ERCC6	OMIM:133540
HP:0031797	Clinical course	2074	ERCC6	OMIM:600630
HP:0031797	Clinical course	57459	GATAD2B	OMIM:615074
HP:0031797	Clinical course	695	BTK	OMIM:300755
HP:0031797	Clinical course	2243	FGA	OMIM:202400
HP:0031797	Clinical course	2244	FGB	OMIM:202400
HP:0031797	Clinical course	2266	FGG	OMIM:202400
HP:0031797	Clinical course	1499	CTNNB1	OMIM:615075
HP:0031797	Clinical course	84894	LINGO1	OMIM:618103
HP:0031797	Clinical course	7053	TGM3	OMIM:617251
HP:0031797	Clinical course	1441	CSF3R	OMIM:617014
HP:0031797	Clinical course	160418	TMTC3	OMIM:617255
HP:0031797	Clinical course	2187	FANCB	OMIM:300514
HP:0031797	Clinical course	54517	PUS7	OMIM:618342
HP:0031797	Clinical course	10765	KDM5B	OMIM:618109
HP:0031797	Clinical course	10564	ARFGEF2	OMIM:608097
HP:0031797	Clinical course	79912	PYROXD1	OMIM:617258
HP:0031797	Clinical course	10785	WDR4	OMIM:618347
HP:0031797	Clinical course	4967	OGDH	OMIM:203740
HP:0031797	Clinical course	1798	DPAGT1	OMIM:608093
HP:0031797	Clinical course	1798	DPAGT1	OMIM:614750
HP:0031797	Clinical course	6418	SET	OMIM:618106
HP:0031797	Clinical course	3081	HGD	OMIM:203500
HP:0031797	Clinical course	9526	MPDU1	OMIM:609180
HP:0031797	Clinical course	8737	RIPK1	OMIM:618108
HP:0031797	Clinical course	4703	NEB	OMIM:256030
HP:0031797	Clinical course	959	CD40LG	OMIM:308230
HP:0031797	Clinical course	1120	CHKB	OMIM:602541
HP:0031797	Clinical course	2706	GJB2	OMIM:602540
HP:0031797	Clinical course	5575	PRKAR1B	OMIM:619680
HP:0031797	Clinical course	29887	SNX10	OMIM:615085
HP:0031797	Clinical course	5515	PPP2CA	OMIM:618354
HP:0031797	Clinical course	1294	COL7A1	OMIM:226600
HP:0031797	Clinical course	4312	MMP1	OMIM:226600
HP:0031797	Clinical course	64801	ARV1	OMIM:617020
HP:0031797	Clinical course	6647	SOD1	OMIM:618598
HP:0031797	Clinical course	6096	RORB	OMIM:618357
HP:0031797	Clinical course	112755	STX1B	OMIM:616172
HP:0031797	Clinical course	116461	TSEN15	OMIM:617026
HP:0031797	Clinical course	51163	DBR1	OMIM:619441
HP:0031797	Clinical course	5568	PRKACG	OMIM:616176
HP:0031797	Clinical course	23043	TNIK	OMIM:617028
HP:0031797	Clinical course	8912	CACNA1H	OMIM:617027
HP:0031797	Clinical course	64065	PERP	OMIM:619208
HP:0031797	Clinical course	57190	SELENON	OMIM:602771
HP:0031797	Clinical course	79709	COLGALT1	OMIM:618360
HP:0031797	Clinical course	55777	MBD5	OMIM:156200
HP:0031797	Clinical course	51132	RLIM	OMIM:300978
HP:0031797	Clinical course	10588	MTHFS	OMIM:618367
HP:0031797	Clinical course	51434	ANAPC7	OMIM:619699
HP:0031797	Clinical course	537	ATP6AP1	OMIM:300972
HP:0031797	Clinical course	24140	FTSJ1	OMIM:309549
HP:0031797	Clinical course	7922	SLC39A7	OMIM:619693
HP:0031797	Clinical course	6601	SMARCC2	OMIM:618362
HP:0031797	Clinical course	4052	LTBP1	OMIM:619451
HP:0031797	Clinical course	92255	LMBRD2	OMIM:619694
HP:0031797	Clinical course	7468	NSD2	OMIM:619695
HP:0031797	Clinical course	8120	AP3B2	OMIM:617276
HP:0031797	Clinical course	267010	RNU12	OMIM:620208
HP:0031797	Clinical course	3054	HCFC1	OMIM:309541
HP:0031797	Clinical course	819	CAMLG	OMIM:620201
HP:0031797	Clinical course	4647	MYO7A	OMIM:276900
HP:0031797	Clinical course	10083	USH1C	OMIM:276900
HP:0031797	Clinical course	51608	GET4	OMIM:620200
HP:0031797	Clinical course	549	AUH	OMIM:250950
HP:0031797	Clinical course	3735	KARS1	OMIM:613916
HP:0031797	Clinical course	56776	FMN2	OMIM:616193
HP:0031797	Clinical course	2068	ERCC2	OMIM:601675
HP:0031797	Clinical course	2064	ERBB2	OMIM:619465
HP:0031797	Clinical course	6390	SDHB	OMIM:619224
HP:0031797	Clinical course	84892	POMGNT2	OMIM:618135
HP:0031797	Clinical course	55630	SLC39A4	OMIM:201100
HP:0031797	Clinical course	254428	SLC41A1	OMIM:619468
HP:0031797	Clinical course	9758	FRMPD4	OMIM:300983
HP:0031797	Clinical course	7174	TPP2	OMIM:619220
HP:0031797	Clinical course	23328	SASH1	OMIM:618373
HP:0031797	Clinical course	23328	SASH1	OMIM:127500
HP:0031797	Clinical course	146206	CARMIL2	OMIM:618131
HP:0031797	Clinical course	4761	NEUROD2	OMIM:618374
HP:0031797	Clinical course	3188	HNRNPH2	OMIM:300986
HP:0031797	Clinical course	84705	GTPBP3	OMIM:616198
HP:0031797	Clinical course	9971	NR1H4	OMIM:617049
HP:0031797	Clinical course	208	AKT2	OMIM:240900
HP:0031797	Clinical course	59341	TRPV4	OMIM:168400
HP:0031797	Clinical course	59341	TRPV4	OMIM:184252
HP:0031797	Clinical course	220296	HEPACAM	OMIM:613925
HP:0031797	Clinical course	220296	HEPACAM	OMIM:613926
HP:0031797	Clinical course	220296	HEPACAM	OMIM:604004
HP:0031797	Clinical course	4548	MTR	OMIM:250940
HP:0031797	Clinical course	55186	SLC25A36	OMIM:620211
HP:0031797	Clinical course	9294	S1PR2	OMIM:610419
HP:0031797	Clinical course	83480	PUS3	OMIM:617051
HP:0031797	Clinical course	11212	PLPBP	OMIM:617290
HP:0031797	Clinical course	57498	KIDINS220	OMIM:617296
HP:0031797	Clinical course	54809	SAMD9	OMIM:617053
HP:0031797	Clinical course	8991	SELENBP1	OMIM:618148
HP:0031797	Clinical course	23316	CUX2	OMIM:618141
HP:0031797	Clinical course	570	BAAT	OMIM:619232
HP:0031797	Clinical course	94005	PIGS	OMIM:618143
HP:0031797	Clinical course	83706	FERMT3	OMIM:612840
HP:0031797	Clinical course	8452	CUL3	OMIM:619239
HP:0031797	Clinical course	9968	MED12	OMIM:309520
HP:0031797	Clinical course	286	ANK1	OMIM:182900
HP:0031797	Clinical course	11198	SUPT16H	OMIM:619480
HP:0031797	Clinical course	8720	MBTPS1	OMIM:618392
HP:0031797	Clinical course	1457	CSNK2A1	OMIM:617062
HP:0031797	Clinical course	7204	TRIO	OMIM:617061
HP:0031797	Clinical course	7204	TRIO	OMIM:618825
HP:0031797	Clinical course	5058	PAK1	OMIM:618158
HP:0031797	Clinical course	200931	SLC51A	OMIM:619484
HP:0031797	Clinical course	2566	GABRG2	OMIM:618396
HP:0031797	Clinical course	1654	DDX3X	OMIM:300958
HP:0031797	Clinical course	3419	IDH3A	OMIM:619007
HP:0031797	Clinical course	54977	SLC25A38	OMIM:205950
HP:0031797	Clinical course	23096	IQSEC2	OMIM:309530
HP:0031797	Clinical course	91662	NLRP12	OMIM:611762
HP:0031797	Clinical course	1277	COL1A1	OMIM:166200
HP:0031797	Clinical course	7284	TUFM	OMIM:610678
HP:0031797	Clinical course	10551	AGR2	OMIM:620233
HP:0031797	Clinical course	3921	RPSA	OMIM:271400
HP:0031797	Clinical course	26278	SACS	OMIM:270550
HP:0031797	Clinical course	55599	RNPC3	OMIM:618160
HP:0031797	Clinical course	80267	EDEM3	OMIM:619493
HP:0031797	Clinical course	5805	PTS	OMIM:261640
HP:0031797	Clinical course	84231	TRAF7	OMIM:618164
HP:0031797	Clinical course	63899	NSUN3	OMIM:619012
HP:0031797	Clinical course	7157	TP53	OMIM:618165
HP:0031797	Clinical course	1315	COPB1	OMIM:619255
HP:0031797	Clinical course	26276	VPS33B	OMIM:620009
HP:0031797	Clinical course	26276	VPS33B	OMIM:620010
HP:0031797	Clinical course	8831	SYNGAP1	OMIM:612621
HP:0031797	Clinical course	203190	LGI3	OMIM:620007
HP:0031797	Clinical course	11043	MID2	OMIM:300928
HP:0031797	Clinical course	779	CACNA1S	OMIM:620246
HP:0031797	Clinical course	779	CACNA1S	OMIM:170400
HP:0031797	Clinical course	81615	TMEM163	OMIM:620243
HP:0031797	Clinical course	84081	NSRP1	OMIM:620001
HP:0031797	Clinical course	10079	ATP9A	OMIM:620242
HP:0031797	Clinical course	3858	KRT10	OMIM:146600
HP:0031797	Clinical course	4644	MYO5A	OMIM:214450
HP:0031797	Clinical course	5903	RANBP2	OMIM:608033
HP:0031797	Clinical course	2801	GOLGA2	OMIM:620240
HP:0031797	Clinical course	6334	SCN8A	OMIM:617080
HP:0031797	Clinical course	6334	SCN8A	OMIM:614558
HP:0031797	Clinical course	64802	NMNAT1	OMIM:619260
HP:0031797	Clinical course	64802	NMNAT1	OMIM:608553
HP:0031797	Clinical course	50617	ATP6V0A4	OMIM:602722
HP:0031797	Clinical course	2296	FOXC1	OMIM:601631
HP:0031797	Clinical course	64432	MRPS25	OMIM:619025
HP:0031797	Clinical course	1893	ECM1	OMIM:247100
HP:0031797	Clinical course	5860	QDPR	OMIM:261630
HP:0031797	Clinical course	375056	MIA3	OMIM:619269
HP:0031797	Clinical course	1496	CTNNA2	OMIM:618174
HP:0031797	Clinical course	83550	GPR101	OMIM:300942
HP:0031797	Clinical course	6326	SCN2A	OMIM:613721
HP:0031797	Clinical course	6326	SCN2A	OMIM:607745
HP:0031797	Clinical course	3785	KCNQ2	OMIM:613720
HP:0031797	Clinical course	23236	PLCB1	OMIM:613722
HP:0031797	Clinical course	5256	PHKA2	OMIM:306000
HP:0031797	Clinical course	5696	PSMB8	OMIM:256040
HP:0031797	Clinical course	6235	RPS29	OMIM:615909
HP:0031797	Clinical course	2760	GM2A	OMIM:272750
HP:0031797	Clinical course	4693	NDP	OMIM:305390
HP:0031797	Clinical course	4693	NDP	OMIM:310600
HP:0031797	Clinical course	5138	PDE2A	OMIM:619150
HP:0031797	Clinical course	64374	SIL1	OMIM:248800
HP:0031797	Clinical course	6535	SLC6A8	OMIM:300352
HP:0031797	Clinical course	26960	NBEA	OMIM:619157
HP:0031797	Clinical course	1183	CLCN4	OMIM:300114
HP:0031797	Clinical course	9722	NOS1AP	OMIM:619155
HP:0031797	Clinical course	27178	IL37	OMIM:619398
HP:0031797	Clinical course	23241	PACS2	OMIM:618067
HP:0031797	Clinical course	80308	FLAD1	OMIM:255100
HP:0031797	Clinical course	10312	TCIRG1	OMIM:259700
HP:0031797	Clinical course	4598	MVK	OMIM:260920
HP:0031797	Clinical course	4598	MVK	OMIM:610377
HP:0031797	Clinical course	5009	OTC	OMIM:311250
HP:0031797	Clinical course	25821	MTO1	OMIM:614702
HP:0031797	Clinical course	781	CACNA2D1	OMIM:620149
HP:0031797	Clinical course	6165	RPL35A	OMIM:612528
HP:0031797	Clinical course	51343	FZR1	OMIM:620145
HP:0031797	Clinical course	10093	ARPC4	OMIM:620141
HP:0031797	Clinical course	146167	SLC38A8	OMIM:609218
HP:0031797	Clinical course	2623	GATA1	OMIM:300367
HP:0031797	Clinical course	2623	GATA1	OMIM:300835
HP:0031797	Clinical course	23149	FCHO1	OMIM:619164
HP:0031797	Clinical course	51506	UFC1	OMIM:618076
HP:0031797	Clinical course	1376	CPT2	OMIM:600649
HP:0031797	Clinical course	644096	SDHAF1	OMIM:619166
HP:0031797	Clinical course	55788	LMBRD1	OMIM:277380
HP:0031797	Clinical course	80055	PGAP1	OMIM:615802
HP:0031797	Clinical course	10978	CLP1	OMIM:615803
HP:0031797	Clinical course	271	AMPD2	OMIM:615809
HP:0031797	Clinical course	771	CA12	OMIM:143860
HP:0031797	Clinical course	58528	RRAGD	OMIM:620152
HP:0031797	Clinical course	6197	RPS6KA3	OMIM:303600
HP:0031797	Clinical course	4718	NDUFC2	OMIM:619170
HP:0031797	Clinical course	8913	CACNA1G	OMIM:618087
HP:0031797	Clinical course	3766	KCNJ10	OMIM:612780
HP:0031797	Clinical course	146862	UNC45B	OMIM:619178
HP:0031797	Clinical course	1272	CNTN1	OMIM:612540
HP:0031797	Clinical course	5119	CHMP1A	OMIM:614961
HP:0031797	Clinical course	3988	LIPA	OMIM:278000
HP:0031797	Clinical course	966	CD59	OMIM:612300
HP:0031797	Clinical course	2538	G6PC1	OMIM:232200
HP:0031797	Clinical course	3953	LEPR	OMIM:614963
HP:0031797	Clinical course	5624	PROC	OMIM:612304
HP:0031797	Clinical course	26504	CNNM4	OMIM:217080
HP:0031797	Clinical course	3778	KCNMA1	OMIM:609446
HP:0031797	Clinical course	3778	KCNMA1	OMIM:618729
HP:0031797	Clinical course	3778	KCNMA1	OMIM:617643
HP:0031797	Clinical course	23325	WASHC4	OMIM:615817
HP:0031797	Clinical course	64087	MCCC2	OMIM:210210
HP:0031797	Clinical course	54675	CRLS1	OMIM:620167
HP:0031797	Clinical course	56984	PSMG2	OMIM:619183
HP:0031797	Clinical course	815	CAMK2A	OMIM:618095
HP:0031797	Clinical course	815	CAMK2A	OMIM:617798
HP:0031797	Clinical course	23116	TOGARAM1	OMIM:619185
HP:0031797	Clinical course	64919	BCL11B	OMIM:618092
HP:0031797	Clinical course	1591	CYP24A1	OMIM:143880
HP:0031797	Clinical course	4915	NTRK2	OMIM:613886
HP:0031797	Clinical course	23314	SATB2	OMIM:612313
HP:0031797	Clinical course	56922	MCCC1	OMIM:210200
HP:0031797	Clinical course	113235	SLC46A1	OMIM:229050
HP:0031797	Clinical course	51293	CD320	OMIM:613646
HP:0031797	Clinical course	54872	PIGG	OMIM:616917
HP:0031797	Clinical course	25942	SIN3A	OMIM:613406
HP:0031797	Clinical course	79053	ALG8	OMIM:608104
HP:0031797	Clinical course	10522	DEAF1	OMIM:615828
HP:0031797	Clinical course	10522	DEAF1	OMIM:617171
HP:0031797	Clinical course	30011	SH3KBP1	OMIM:300310
HP:0031797	Clinical course	26053	AUTS2	OMIM:615834
HP:0031797	Clinical course	10846	PDE10A	OMIM:616921
HP:0031797	Clinical course	3588	IL10RB	OMIM:612567
HP:0031797	Clinical course	1650	DDOST	OMIM:614507
HP:0031797	Clinical course	5888	RAD51	OMIM:614508
HP:0031797	Clinical course	10056	FARSB	OMIM:613658
HP:0031797	Clinical course	3675	ITGA3	OMIM:614748
HP:0031797	Clinical course	80025	PANK2	OMIM:234200
HP:0031797	Clinical course	55719	SLF2	OMIM:620184
HP:0031797	Clinical course	79759	ZNF668	OMIM:620194
HP:0031797	Clinical course	283209	PGM2L1	OMIM:620191
HP:0031797	Clinical course	1737	DLAT	OMIM:245348
HP:0031797	Clinical course	492	ATP2B3	OMIM:302500
HP:0031797	Clinical course	3251	HPRT1	OMIM:300322
HP:0031797	Clinical course	1785	DNM2	OMIM:160150
HP:0031797	Clinical course	64419	MTMR14	OMIM:160150
HP:0031797	Clinical course	440138	ALG11	OMIM:613661
HP:0031797	Clinical course	23261	CAMTA1	OMIM:614756
HP:0031797	Clinical course	56623	INPP5E	OMIM:610156
HP:0031797	Clinical course	64135	IFIH1	OMIM:615846
HP:0031797	Clinical course	64135	IFIH1	OMIM:619773
HP:0031797	Clinical course	64135	IFIH1	OMIM:182250
HP:0031797	Clinical course	182	JAG1	OMIM:118450
HP:0031797	Clinical course	5340	PLG	OMIM:217090
HP:0031797	Clinical course	3708	ITPR1	OMIM:117360
HP:0031797	Clinical course	3708	ITPR1	OMIM:206700
HP:0031797	Clinical course	10472	ZBTB18	OMIM:612337
HP:0031797	Clinical course	917	CD3G	OMIM:615607
HP:0031797	Clinical course	1962	EHHADH	OMIM:615605
HP:0031797	Clinical course	84946	LTV1	OMIM:620199
HP:0031797	Clinical course	286676	ILDR1	OMIM:609646
HP:0031797	Clinical course	554	AVPR2	OMIM:300539
HP:0031797	Clinical course	1186	CLCN7	OMIM:611490
HP:0031797	Clinical course	55084	SOBP	OMIM:613671
HP:0031797	Clinical course	27086	FOXP1	OMIM:613670
HP:0031797	Clinical course	919	CD247	OMIM:610163
HP:0031797	Clinical course	6929	TCF3	OMIM:616941
HP:0031797	Clinical course	6929	TCF3	OMIM:619824
HP:0031797	Clinical course	55149	MTPAP	OMIM:613672
HP:0031797	Clinical course	916	CD3E	OMIM:615615
HP:0031797	Clinical course	79718	TBL1XR1	OMIM:616944
HP:0031797	Clinical course	445	ASS1	OMIM:215700
HP:0031797	Clinical course	51322	WAC	OMIM:616708
HP:0031797	Clinical course	915	CD3D	OMIM:615617
HP:0031797	Clinical course	85440	DOCK7	OMIM:615859
HP:0031797	Clinical course	28962	OSTM1	OMIM:259720
HP:0031797	Clinical course	65125	WNK1	OMIM:201300
HP:0031797	Clinical course	6335	SCN9A	OMIM:201300
HP:0031797	Clinical course	79228	THOC6	OMIM:613680
HP:0031797	Clinical course	2033	EP300	OMIM:613684
HP:0031797	Clinical course	2033	EP300	OMIM:180849
HP:0031797	Clinical course	5962	RDX	OMIM:611022
HP:0031797	Clinical course	4208	MEF2C	OMIM:613443
HP:0031797	Clinical course	22907	DHX30	OMIM:617804
HP:0031797	Clinical course	3679	ITGA7	OMIM:613204
HP:0031797	Clinical course	9894	TELO2	OMIM:616954
HP:0031797	Clinical course	196528	ARID2	OMIM:617808
HP:0031797	Clinical course	57410	SCYL1	OMIM:616719
HP:0031797	Clinical course	9230	RAB11B	OMIM:617807
HP:0031797	Clinical course	8600	TNFSF11	OMIM:259710
HP:0031797	Clinical course	10075	HUWE1	OMIM:309590
HP:0031797	Clinical course	6323	SCN1A	OMIM:607208
HP:0031797	Clinical course	6323	SCN1A	OMIM:619317
HP:0031797	Clinical course	348980	HCN1	OMIM:615871
HP:0031797	Clinical course	124997	WDR81	OMIM:610185
HP:0031797	Clinical course	8733	GPAA1	OMIM:617810
HP:0031797	Clinical course	79092	CARD14	OMIM:173200
HP:0031797	Clinical course	23394	ADNP	OMIM:615873
HP:0031797	Clinical course	6513	SLC2A1	OMIM:612126
HP:0031797	Clinical course	6513	SLC2A1	OMIM:606777
HP:0031797	Clinical course	6513	SLC2A1	OMIM:608885
HP:0031797	Clinical course	6948	TCN2	OMIM:275350
HP:0031797	Clinical course	89970	RSPRY1	OMIM:616723
HP:0031797	Clinical course	50943	FOXP3	OMIM:304790
HP:0031797	Clinical course	8763	CD164	OMIM:616969
HP:0031797	Clinical course	79650	USB1	OMIM:604173
HP:0031797	Clinical course	2258	FGF13	OMIM:301058
HP:0031797	Clinical course	91147	TMEM67	OMIM:216360
HP:0031797	Clinical course	9150	CTDP1	OMIM:604168
HP:0031797	Clinical course	3718	JAK3	OMIM:600802
HP:0031797	Clinical course	3074	HEXB	OMIM:268800
HP:0031797	Clinical course	5160	PDHA1	OMIM:312170
HP:0031797	Clinical course	473	RERE	OMIM:616975
HP:0031797	Clinical course	11151	CORO1A	OMIM:615401
HP:0031797	Clinical course	6144	RPL21	OMIM:615885
HP:0031797	Clinical course	1806	DPYD	OMIM:274270
HP:0031797	Clinical course	4792	NFKBIA	OMIM:612132
HP:0031797	Clinical course	2902	GRIN1	OMIM:617820
HP:0031797	Clinical course	2902	GRIN1	OMIM:614254
HP:0031797	Clinical course	2782	GNB1	OMIM:616973
HP:0031797	Clinical course	1545	CYP1B1	OMIM:231300
HP:0031797	Clinical course	79644	SRD5A3	OMIM:612379
HP:0031797	Clinical course	79644	SRD5A3	OMIM:612713
HP:0031797	Clinical course	50	ACO2	OMIM:614559
HP:0031797	Clinical course	3097	HIVEP2	OMIM:616977
HP:0031797	Clinical course	3176	HNMT	OMIM:616739
HP:0031797	Clinical course	84679	SLC9A7	OMIM:301024
HP:0031797	Clinical course	5251	PHEX	OMIM:307800
HP:0031797	Clinical course	4694	NDUFA1	OMIM:301020
HP:0031797	Clinical course	25953	PNKD	OMIM:118800
HP:0031797	Clinical course	23732	FRRS1L	OMIM:616981
HP:0031797	Clinical course	54885	TBC1D8B	OMIM:301028
HP:0031797	Clinical course	63035	BCORL1	OMIM:301029
HP:0031797	Clinical course	7128	TNFAIP3	OMIM:616744
HP:0031797	Clinical course	6709	SPTAN1	OMIM:613477
HP:0031797	Clinical course	1778	DYNC1H1	OMIM:614563
HP:0031797	Clinical course	51741	WWOX	OMIM:614322
HP:0031797	Clinical course	51741	WWOX	OMIM:616211
HP:0031797	Clinical course	545	ATR	OMIM:614564
HP:0031797	Clinical course	6678	SPARC	OMIM:616507
HP:0031797	Clinical course	84693	MCEE	OMIM:251120
HP:0031797	Clinical course	51185	CRBN	OMIM:607417
HP:0031797	Clinical course	6907	TBL1X	OMIM:301033
HP:0031797	Clinical course	57165	GJC2	OMIM:613480
HP:0031797	Clinical course	57165	GJC2	OMIM:608804
HP:0031797	Clinical course	617	BCS1L	OMIM:262000
HP:0031797	Clinical course	4891	SLC11A2	OMIM:206100
HP:0031797	Clinical course	56479	KCNQ5	OMIM:617601
HP:0031797	Clinical course	23152	CIC	OMIM:617600
HP:0031797	Clinical course	149461	CLDN19	OMIM:248190
HP:0031797	Clinical course	4914	NTRK1	OMIM:256800
HP:0031797	Clinical course	25839	COG4	OMIM:613489
HP:0031797	Clinical course	667	DST	OMIM:615425
HP:0031797	Clinical course	9863	MAGI2	OMIM:617609
HP:0031797	Clinical course	401138	AMTN	OMIM:617607
HP:0031797	Clinical course	9997	SCO2	OMIM:604377
HP:0031797	Clinical course	3887	KRT81	OMIM:158000
HP:0031797	Clinical course	3889	KRT83	OMIM:158000
HP:0031797	Clinical course	3889	KRT83	OMIM:617756
HP:0031797	Clinical course	3892	KRT86	OMIM:158000
HP:0031797	Clinical course	7454	WAS	OMIM:301000
HP:0031797	Clinical course	11078	TRIOBP	OMIM:609823
HP:0031797	Clinical course	930	CD19	OMIM:613493
HP:0031797	Clinical course	8270	LAGE3	OMIM:301006
HP:0031797	Clinical course	6812	STXBP1	OMIM:612164
HP:0031797	Clinical course	55180	LINS1	OMIM:614340
HP:0031797	Clinical course	11222	MRPL3	OMIM:614582
HP:0031797	Clinical course	8929	PHOX2B	OMIM:209880
HP:0031797	Clinical course	1213	CLTC	OMIM:617854
HP:0031797	Clinical course	2517	FUCA1	OMIM:230000
HP:0031797	Clinical course	1859	DYRK1A	OMIM:614104
HP:0031797	Clinical course	7249	TSC2	OMIM:613254
HP:0031797	Clinical course	7249	TSC2	OMIM:607341
HP:0031797	Clinical course	3458	IFNG	OMIM:613254
HP:0031797	Clinical course	23040	MYT1L	OMIM:616521
HP:0031797	Clinical course	199221	DZIP1L	OMIM:617610
HP:0031797	Clinical course	64857	PLEKHG2	OMIM:616763
HP:0031797	Clinical course	189	AGXT	OMIM:259900
HP:0031797	Clinical course	80232	WDR26	OMIM:617616
HP:0031797	Clinical course	4329	ALDH6A1	OMIM:614105
HP:0031797	Clinical course	3570	IL6R	OMIM:618944
HP:0031797	Clinical course	3575	IL7R	OMIM:608971
HP:0031797	Clinical course	4148	MATN3	OMIM:608728
HP:0031797	Clinical course	3060	HCRT	OMIM:161400
HP:0031797	Clinical course	10345	TRDN	OMIM:615441
HP:0031797	Clinical course	162514	TRPV3	OMIM:614594
HP:0031797	Clinical course	27031	NPHP3	OMIM:208540
HP:0031797	Clinical course	60528	ELAC2	OMIM:615440
HP:0031797	Clinical course	57688	ZSWIM6	OMIM:617865
HP:0031797	Clinical course	2893	GRIA4	OMIM:617864
HP:0031797	Clinical course	81562	LMAN2L	OMIM:617863
HP:0031797	Clinical course	81562	LMAN2L	OMIM:616887
HP:0031797	Clinical course	51364	ZMYND10	OMIM:615444
HP:0031797	Clinical course	1605	DAG1	OMIM:616538
HP:0031797	Clinical course	5261	PHKG2	OMIM:613027
HP:0031797	Clinical course	84433	CARD11	OMIM:615206
HP:0031797	Clinical course	8292	COLQ	OMIM:603034
HP:0031797	Clinical course	113246	C12orf57	OMIM:218340
HP:0031797	Clinical course	51	ACOX1	OMIM:264470
HP:0031797	Clinical course	5873	RAB27A	OMIM:607624
HP:0031797	Clinical course	54888	NSUN2	OMIM:611091
HP:0031797	Clinical course	2898	GRIK2	OMIM:611092
HP:0031797	Clinical course	54802	TRIT1	OMIM:617873
HP:0031797	Clinical course	51081	MRPS7	OMIM:617872
HP:0031797	Clinical course	10020	GNE	OMIM:269921
HP:0031797	Clinical course	1537	CYC1	OMIM:615453
HP:0031797	Clinical course	9731	CEP104	OMIM:616781
HP:0031797	Clinical course	9731	CEP104	OMIM:619988
HP:0031797	Clinical course	5295	PIK3R1	OMIM:615214
HP:0031797	Clinical course	5295	PIK3R1	OMIM:616005
HP:0031797	Clinical course	10274	STAG1	OMIM:617635
HP:0031797	Clinical course	4724	NDUFS4	OMIM:252010
HP:0031797	Clinical course	5449	POU1F1	OMIM:613038
HP:0031797	Clinical course	23389	MED13L	OMIM:616789
HP:0031797	Clinical course	84059	ADGRV1	OMIM:604352
HP:0031797	Clinical course	8139	GAN	OMIM:256850
HP:0031797	Clinical course	55553	SOX6	OMIM:618971
HP:0031797	Clinical course	51075	TMX2	OMIM:618730
HP:0031797	Clinical course	8884	SLC5A6	OMIM:618973
HP:0031797	Clinical course	115286	SLC25A26	OMIM:616794
HP:0031797	Clinical course	721	C4B	OMIM:614379
HP:0031797	Clinical course	10892	MALT1	OMIM:615468
HP:0031797	Clinical course	10844	TUBGCP2	OMIM:618737
HP:0031797	Clinical course	55367	PIDD1	OMIM:619827
HP:0031797	Clinical course	109	ADCY3	OMIM:617885
HP:0031797	Clinical course	7252	TSHB	OMIM:275100
HP:0031797	Clinical course	2746	GLUD1	OMIM:606762
HP:0031797	Clinical course	1497	CTNS	OMIM:219800
HP:0031797	Clinical course	3551	IKBKB	OMIM:615592
HP:0031797	Clinical course	29925	GMPPB	OMIM:615350
HP:0031797	Clinical course	29925	GMPPB	OMIM:615351
HP:0031797	Clinical course	8367	H4C5	OMIM:619950
HP:0031797	Clinical course	8294	H4C9	OMIM:619951
HP:0031797	Clinical course	5728	PTEN	OMIM:605309
HP:0031797	Clinical course	9853	RUSC2	OMIM:617773
HP:0031797	Clinical course	9860	LRIG2	OMIM:615112
HP:0031797	Clinical course	5723	PSPH	OMIM:614023
HP:0031797	Clinical course	9524	TECR	OMIM:614020
HP:0031797	Clinical course	343450	KCNT2	OMIM:617771
HP:0031797	Clinical course	2132	EXT2	OMIM:616682
HP:0031797	Clinical course	2132	EXT2	OMIM:133701
HP:0031797	Clinical course	6873	TAF2	OMIM:615599
HP:0031797	Clinical course	3783	KCNN4	OMIM:616689
HP:0031797	Clinical course	2895	GRID2	OMIM:616204
HP:0031797	Clinical course	84818	IL17RC	OMIM:616445
HP:0031797	Clinical course	51126	NAA20	OMIM:619717
HP:0031797	Clinical course	2972	BRF1	OMIM:616202
HP:0031797	Clinical course	8710	SERPINB7	OMIM:615598
HP:0031797	Clinical course	4860	PNP	OMIM:613179
HP:0031797	Clinical course	1355	COX15	OMIM:615119
HP:0031797	Clinical course	81857	MED25	OMIM:616449
HP:0031797	Clinical course	4254	KITLG	OMIM:145250
HP:0031797	Clinical course	755	CFAP410	OMIM:602271
HP:0031797	Clinical course	84942	WDR73	OMIM:251300
HP:0031797	Clinical course	7259	TSPYL1	OMIM:608800
HP:0031797	Clinical course	4522	MTHFD1	OMIM:617780
HP:0031797	Clinical course	3021	H3-3B	OMIM:619721
HP:0031797	Clinical course	1630	DCC	OMIM:617542
HP:0031797	Clinical course	1630	DCC	OMIM:157600
HP:0031797	Clinical course	10026	PIGK	OMIM:618879
HP:0031797	Clinical course	51111	KMT5B	OMIM:617788
HP:0031797	Clinical course	1106	CHD2	OMIM:615369
HP:0031797	Clinical course	2670	GFAP	OMIM:203450
HP:0031797	Clinical course	65082	VPS33A	OMIM:617303
HP:0031797	Clinical course	526	ATP6V1B2	OMIM:616455
HP:0031797	Clinical course	10730	YME1L1	OMIM:617302
HP:0031797	Clinical course	10565	ARFGEF1	OMIM:619964
HP:0031797	Clinical course	8309	ACOX2	OMIM:617308
HP:0031797	Clinical course	5610	EIF2AK2	OMIM:618877
HP:0031797	Clinical course	57156	TMEM63C	OMIM:619966
HP:0031797	Clinical course	27102	EIF2AK1	OMIM:618878
HP:0031797	Clinical course	3781	KCNN2	OMIM:619725
HP:0031797	Clinical course	120227	CYP2R1	OMIM:600081
HP:0031797	Clinical course	5189	PEX1	OMIM:214100
HP:0031797	Clinical course	5189	PEX1	OMIM:234580
HP:0031797	Clinical course	140803	TRPM6	OMIM:602014
HP:0031797	Clinical course	10559	SLC35A1	OMIM:603585
HP:0031797	Clinical course	83696	TRAPPC9	OMIM:613192
HP:0031797	Clinical course	535	ATP6V0A1	OMIM:619971
HP:0031797	Clinical course	535	ATP6V0A1	OMIM:619970
HP:0031797	Clinical course	60561	RINT1	OMIM:618641
HP:0031797	Clinical course	129685	TAF8	OMIM:619972
HP:0031797	Clinical course	55870	ASH1L	OMIM:617796
HP:0031797	Clinical course	286204	CRB2	OMIM:616220
HP:0031797	Clinical course	816	CAMK2B	OMIM:617799
HP:0031797	Clinical course	51319	RSRC1	OMIM:618402
HP:0031797	Clinical course	7920	ABHD16A	OMIM:619735
HP:0031797	Clinical course	85365	ALG2	OMIM:616228
HP:0031797	Clinical course	85365	ALG2	OMIM:607906
HP:0031797	Clinical course	4323	MMP14	OMIM:277950
HP:0031797	Clinical course	1834	DSPP	OMIM:125420
HP:0031797	Clinical course	203286	ANKS6	OMIM:615382
HP:0031797	Clinical course	2688	GH1	OMIM:262400
HP:0031797	Clinical course	283987	HID1	OMIM:619983
HP:0031797	Clinical course	1303	COL12A1	OMIM:616470
HP:0031797	Clinical course	6712	SPTBN2	OMIM:615386
HP:0031797	Clinical course	6712	SPTBN2	OMIM:600224
HP:0031797	Clinical course	4174	MCM5	OMIM:617564
HP:0031797	Clinical course	28755	TRAC	OMIM:615387
HP:0031797	Clinical course	57178	ZMIZ1	OMIM:618659
HP:0031797	Clinical course	388962	BOLA3	OMIM:614299
HP:0031797	Clinical course	2783	GNB2	OMIM:619503
HP:0031797	Clinical course	200734	SPRED2	OMIM:619745
HP:0031797	Clinical course	79731	NARS2	OMIM:616239
HP:0031797	Clinical course	55623	THUMPD1	OMIM:619989
HP:0031797	Clinical course	284439	SLC25A42	OMIM:618416
HP:0031797	Clinical course	112476	PRRT2	OMIM:605751
HP:0031797	Clinical course	9927	MFN2	OMIM:601152
HP:0031797	Clinical course	610	HCN2	OMIM:602477
HP:0031797	Clinical course	51594	NBAS	OMIM:616483
HP:0031797	Clinical course	253738	EBF3	OMIM:617330
HP:0031797	Clinical course	10043	TOM1	OMIM:619510
HP:0031797	Clinical course	3572	IL6ST	OMIM:619752
HP:0031797	Clinical course	3572	IL6ST	OMIM:619750
HP:0031797	Clinical course	56006	SMG9	OMIM:619995
HP:0031797	Clinical course	85301	COL27A1	OMIM:615155
HP:0031797	Clinical course	142680	SLC34A3	OMIM:241530
HP:0031797	Clinical course	65080	MRPL44	OMIM:615395
HP:0031797	Clinical course	54914	FOCAD	OMIM:619991
HP:0031797	Clinical course	27089	UQCRQ	OMIM:615159
HP:0031797	Clinical course	1182	CLCN3	OMIM:619517
HP:0031797	Clinical course	55699	IARS2	OMIM:616007
HP:0031797	Clinical course	801	CALM1	OMIM:616247
HP:0031797	Clinical course	6023	RMRP	OMIM:250250
HP:0031797	Clinical course	7381	UQCRB	OMIM:615158
HP:0031797	Clinical course	59335	PRDM12	OMIM:616488
HP:0031797	Clinical course	7701	ZNF142	OMIM:618425
HP:0031797	Clinical course	2643	GCH1	OMIM:233910
HP:0031797	Clinical course	4191	MDH2	OMIM:617339
HP:0031797	Clinical course	8517	IKBKG	OMIM:301081
HP:0031797	Clinical course	8517	IKBKG	OMIM:300636
HP:0031797	Clinical course	23474	ETHE1	OMIM:602473
HP:0031797	Clinical course	166785	MMAA	OMIM:251100
HP:0031797	Clinical course	5551	PRF1	OMIM:603553
HP:0031797	Clinical course	8676	STX11	OMIM:603552
HP:0031797	Clinical course	9533	POLR1C	OMIM:616494
HP:0031797	Clinical course	11234	HPS5	OMIM:614074
HP:0031797	Clinical course	10021	HCN4	OMIM:619521
HP:0031797	Clinical course	7750	ZMYM2	OMIM:619522
HP:0031797	Clinical course	5971	RELB	OMIM:617585
HP:0031797	Clinical course	9474	ATG5	OMIM:617584
HP:0031797	Clinical course	4849	CNOT3	OMIM:618672
HP:0031797	Clinical course	59336	PRDM13	OMIM:619761
HP:0031797	Clinical course	6942	TCF20	OMIM:618430
HP:0031797	Clinical course	6121	RPE65	OMIM:204100
HP:0031797	Clinical course	6506	SLC1A2	OMIM:617105
HP:0031797	Clinical course	10297	APC2	OMIM:618677
HP:0031797	Clinical course	10297	APC2	OMIM:617169
HP:0031797	Clinical course	9338	TCEAL1	OMIM:301094
HP:0031797	Clinical course	57724	EPG5	OMIM:242840
HP:0031797	Clinical course	23162	MAPK8IP3	OMIM:618443
HP:0031797	Clinical course	3978	LIG1	OMIM:619774
HP:0031797	Clinical course	55120	FANCL	OMIM:614083
HP:0031797	Clinical course	79989	IFT56	OMIM:619534
HP:0031797	Clinical course	9319	TRIP13	OMIM:617598
HP:0031797	Clinical course	284098	PIGW	OMIM:616025
HP:0031797	Clinical course	2562	GABRB3	OMIM:617113
HP:0031797	Clinical course	10463	SLC30A9	OMIM:617595
HP:0031797	Clinical course	84522	JAGN1	OMIM:616022
HP:0031797	Clinical course	388662	SLC6A17	OMIM:616269
HP:0031797	Clinical course	2678	GGT1	OMIM:231950
HP:0031797	Clinical course	51227	PIGP	OMIM:617599
HP:0031797	Clinical course	5271	SERPINB8	OMIM:617115
HP:0031797	Clinical course	1107	CHD3	OMIM:618205
HP:0031797	Clinical course	387733	IFITM5	OMIM:610967
HP:0031797	Clinical course	64421	DCLRE1C	OMIM:602450
HP:0031797	Clinical course	60681	FKBP10	OMIM:610968
HP:0031797	Clinical course	57192	MCOLN1	OMIM:252650
HP:0031797	Clinical course	3756	KCNH1	OMIM:611816
HP:0031797	Clinical course	51311	TLR8	OMIM:301078
HP:0031797	Clinical course	79628	SH3TC2	OMIM:601596
HP:0031797	Clinical course	258	AMBN	OMIM:616270
HP:0031797	Clinical course	2000	ELF4	OMIM:301074
HP:0031797	Clinical course	3730	ANOS1	OMIM:308700
HP:0031797	Clinical course	148789	B3GALNT2	OMIM:615181
HP:0031797	Clinical course	81704	DOCK8	OMIM:243700
HP:0031797	Clinical course	27247	NFU1	OMIM:605711
HP:0031797	Clinical course	27077	B9D1	OMIM:617120
HP:0031797	Clinical course	133686	NADK2	OMIM:616034
HP:0031797	Clinical course	55770	EXOC2	OMIM:619306
HP:0031797	Clinical course	6857	SYT1	OMIM:618218
HP:0031797	Clinical course	5277	PIGA	OMIM:301072
HP:0031797	Clinical course	8905	AP1S2	OMIM:304340
HP:0031797	Clinical course	10456	HAX1	OMIM:610738
HP:0031797	Clinical course	6927	HNF1A	OMIM:600496
HP:0031797	Clinical course	9759	HDAC4	OMIM:619797
HP:0031797	Clinical course	4723	NDUFV1	OMIM:618225
HP:0031797	Clinical course	30000	TNPO2	OMIM:619556
HP:0031797	Clinical course	79705	LRRK1	OMIM:615198
HP:0031797	Clinical course	51728	POLR3K	OMIM:619310
HP:0031797	Clinical course	55628	ZNF407	OMIM:619557
HP:0031797	Clinical course	4720	NDUFS2	OMIM:618228
HP:0031797	Clinical course	4729	NDUFV2	OMIM:618229
HP:0031797	Clinical course	3426	CFI	OMIM:610984
HP:0031797	Clinical course	718	C3	OMIM:612925
HP:0031797	Clinical course	718	C3	OMIM:613779
HP:0031797	Clinical course	51412	ACTL6B	OMIM:618470
HP:0031797	Clinical course	1536	CYBB	OMIM:300645
HP:0031797	Clinical course	60482	SLC5A7	OMIM:617143
HP:0031797	Clinical course	831	CAST	OMIM:616295
HP:0031797	Clinical course	6514	SLC2A2	OMIM:227810
HP:0031797	Clinical course	51103	NDUFAF1	OMIM:618234
HP:0031797	Clinical course	4695	NDUFA2	OMIM:618235
HP:0031797	Clinical course	3561	IL2RG	OMIM:300400
HP:0031797	Clinical course	79868	ALG13	OMIM:300884
HP:0031797	Clinical course	6651	SON	OMIM:617140
HP:0031797	Clinical course	51601	LIPT1	OMIM:616299
HP:0031797	Clinical course	10659	CELF2	OMIM:619561
HP:0031797	Clinical course	22861	NLRP1	OMIM:617388
HP:0031797	Clinical course	23030	KDM4B	OMIM:619320
HP:0031797	Clinical course	3745	KCNB1	OMIM:616056
HP:0031797	Clinical course	137682	NDUFAF6	OMIM:618239
HP:0031797	Clinical course	5010	CLDN11	OMIM:619328
HP:0031797	Clinical course	9622	KLK4	OMIM:204700
HP:0031797	Clinical course	1130	LYST	OMIM:214500
HP:0031797	Clinical course	2067	ERCC1	OMIM:610758
HP:0031797	Clinical course	79944	L2HGDH	OMIM:236792
HP:0031797	Clinical course	8869	ST3GAL5	OMIM:609056
HP:0031797	Clinical course	10166	SLC25A15	OMIM:238970
HP:0031797	Clinical course	1725	DHPS	OMIM:618480
HP:0031797	Clinical course	3192	HNRNPU	OMIM:617391
HP:0031797	Clinical course	56915	EXOSC5	OMIM:619576
HP:0031797	Clinical course	22796	COG2	OMIM:617395
HP:0031797	Clinical course	2560	GABRB1	OMIM:617153
HP:0031797	Clinical course	23221	RHOBTB2	OMIM:618004
HP:0031797	Clinical course	112939	NACC1	OMIM:617393
HP:0031797	Clinical course	25915	NDUFAF3	OMIM:618240
HP:0031797	Clinical course	2707	GJB3	OMIM:133200
HP:0031797	Clinical course	50619	DEF6	OMIM:619573
HP:0031797	Clinical course	165	AEBP1	OMIM:618000
HP:0031797	Clinical course	3394	IRF8	OMIM:226990
HP:0031797	Clinical course	4705	NDUFA10	OMIM:618243
HP:0031797	Clinical course	23229	ARHGEF9	OMIM:300607
HP:0031797	Clinical course	123263	MTFMT	OMIM:618248
HP:0031797	Clinical course	51079	NDUFA13	OMIM:618249
HP:0031797	Clinical course	84188	FAR1	OMIM:619338
HP:0031797	Clinical course	10157	AASS	OMIM:238700
HP:0031797	Clinical course	23203	PMPCA	OMIM:213200
HP:0031797	Clinical course	22845	DOLK	OMIM:610768
HP:0031797	Clinical course	55750	AGK	OMIM:212350
HP:0031797	Clinical course	8604	SLC25A12	OMIM:612949
HP:0031797	Clinical course	3158	HMGCS2	OMIM:605911
HP:0031797	Clinical course	80324	PUS1	OMIM:600462
HP:0031797	Clinical course	1781	DYNC1I2	OMIM:618492
HP:0031797	Clinical course	7319	UBE2A	OMIM:300860
HP:0031797	Clinical course	9509	ADAMTS2	OMIM:225410
HP:0031797	Clinical course	774	CACNA1B	OMIM:618497
HP:0031797	Clinical course	26175	LYSET	OMIM:619345
HP:0031797	Clinical course	10845	CLPX	OMIM:618015
HP:0031797	Clinical course	23522	KAT6B	OMIM:603736
HP:0031797	Clinical course	2906	GRIN2D	OMIM:617162
HP:0031797	Clinical course	9451	EIF2AK3	OMIM:226980
HP:0031797	Clinical course	51300	TIMMDC1	OMIM:618251
HP:0031797	Clinical course	54681	P4HTM	OMIM:618493
HP:0031797	Clinical course	4714	NDUFB8	OMIM:618252
HP:0031797	Clinical course	4126	MANBA	OMIM:248510
HP:0031797	Clinical course	4700	NDUFA6	OMIM:618253
HP:0031797	Clinical course	26040	SETBP1	OMIM:616078
HP:0031797	Clinical course	3560	IL2RB	OMIM:618495
HP:0031797	Clinical course	523	ATP6V1A	OMIM:618012
HP:0031797	Clinical course	2257	FGF12	OMIM:617166
HP:0031797	Clinical course	8635	RNASET2	OMIM:612951
HP:0031797	Clinical course	25939	SAMHD1	OMIM:612952
HP:0031797	Clinical course	25939	SAMHD1	OMIM:614415
HP:0031797	Clinical course	412	STS	OMIM:308100
HP:0031797	Clinical course	84701	COX4I2	OMIM:612714
HP:0031797	Clinical course	6697	SPR	OMIM:612716
HP:0031797	Clinical course	339829	CCDC39	OMIM:613807
HP:0031797	Clinical course	2628	GATM	OMIM:612718
HP:0031797	Clinical course	10771	ZMYND11	OMIM:616083
HP:0031797	Clinical course	11340	EXOSC8	OMIM:616081
HP:0031797	Clinical course	23322	RPGRIP1L	OMIM:619113
HP:0031797	Clinical course	37	ACADVL	OMIM:201475
HP:0031797	Clinical course	65018	PINK1	OMIM:605909
HP:0031797	Clinical course	139411	PTCHD1	OMIM:300830
HP:0031797	Clinical course	5977	DPF2	OMIM:618027
HP:0031797	Clinical course	51095	TRNT1	OMIM:616084
HP:0031797	Clinical course	10681	GNB5	OMIM:617173
HP:0031797	Clinical course	10681	GNB5	OMIM:617182
HP:0031797	Clinical course	35	ACADS	OMIM:201470
HP:0031797	Clinical course	10847	SRCAP	OMIM:619595
HP:0031797	Clinical course	10847	SRCAP	OMIM:136140
HP:0031797	Clinical course	1387	CREBBP	OMIM:180849
HP:0031797	Clinical course	51091	SEPSECS	OMIM:613811
HP:0031797	Clinical course	538	ATP7A	OMIM:309400
HP:0031797	Clinical course	84197	POMK	OMIM:616094
HP:0031797	Clinical course	55210	ATAD3A	OMIM:617183
HP:0031797	Clinical course	2571	GAD1	OMIM:619124
HP:0031797	Clinical course	8915	BCL10	OMIM:616098
HP:0031797	Clinical course	90522	YIF1B	OMIM:619125
HP:0031797	Clinical course	128240	NAXE	OMIM:617186
HP:0031797	Clinical course	54790	TET2	OMIM:619126
HP:0031797	Clinical course	10651	MTX2	OMIM:619127
HP:0031797	Clinical course	285	ANGPT2	OMIM:619369
HP:0031797	Clinical course	6566	SLC16A1	OMIM:616095
HP:0031797	Clinical course	22983	MAST1	OMIM:618273
HP:0031797	Clinical course	79143	MBOAT7	OMIM:617188
HP:0031797	Clinical course	226	ALDOA	OMIM:611881
HP:0031797	Clinical course	23031	MAST3	OMIM:620115
HP:0031797	Clinical course	498	ATP5F1A	OMIM:620358
HP:0031797	Clinical course	3030	HADHA	OMIM:609015
HP:0031797	Clinical course	2593	GAMT	OMIM:612736
HP:0031797	Clinical course	4322	MMP13	OMIM:250400
HP:0031797	Clinical course	1406	CRX	OMIM:613829
HP:0031797	Clinical course	6123	RPL3L	OMIM:619371
HP:0031797	Clinical course	6904	TBCD	OMIM:617193
HP:0031797	Clinical course	6571	SLC18A2	OMIM:618049
HP:0031797	Clinical course	11014	KDELR2	OMIM:619131
HP:0031797	Clinical course	23154	NCDN	OMIM:619373
HP:0031797	Clinical course	4938	OAS1	OMIM:618042
HP:0031797	Clinical course	57152	SLURP1	OMIM:248300
HP:0031797	Clinical course	100	ADA	OMIM:102700
HP:0031797	Clinical course	4668	NAGA	OMIM:609241
HP:0031797	Clinical course	9487	PIGL	OMIM:280000
HP:0031797	Clinical course	23418	CRB1	OMIM:613835
HP:0031797	Clinical course	124454	EARS2	OMIM:614924
HP:0031797	Clinical course	1795	DOCK3	OMIM:618292
HP:0031797	Clinical course	11011	TLK2	OMIM:618050
HP:0031797	Clinical course	6850	SYK	OMIM:619381
HP:0031797	Clinical course	57538	ALPK3	OMIM:618052
HP:0031797	Clinical course	5257	PHKB	OMIM:261750
HP:0031797	Clinical course	1604	CD55	OMIM:226300
HP:0031797	Clinical course	27072	VPS41	OMIM:619389
HP:0031797	Clinical course	27161	AGO2	OMIM:619149
HP:0031797	Clinical course	8665	EIF3F	OMIM:618295
HP:0031797	Clinical course	87178	PNPT1	OMIM:614932
HP:0031797	Clinical course	10535	RNASEH2A	OMIM:610333
HP:0031797	Clinical course	7287	TULP1	OMIM:613843
HP:0031797	Clinical course	90523	MLIP	OMIM:620138
HP:0031797	Clinical course	9935	MAFB	OMIM:166300
HP:0031797	Clinical course	54938	SARS2	OMIM:613845
HP:0031797	Clinical course	64858	DCLRE1B	OMIM:620133
HP:0031797	Clinical course	26275	HIBCH	OMIM:250620
HP:0031797	Clinical course	121340	SP7	OMIM:613849
HP:0031797	Clinical course	114548	NLRP3	OMIM:120100
HP:0031797	Clinical course	114548	NLRP3	OMIM:607115
HP:0031797	Clinical course	1534	CYB561	OMIM:618182
HP:0031797	Clinical course	4702	NDUFA8	OMIM:619272
HP:0031797	Clinical course	199857	ALG14	OMIM:619031
HP:0031797	Clinical course	84189	SLITRK6	OMIM:221200
HP:0031797	Clinical course	10128	LRPPRC	OMIM:220111
HP:0031797	Clinical course	2077	ERF	OMIM:600775
HP:0031797	Clinical course	10134	BCAP31	OMIM:300475
HP:0031797	Clinical course	158	ADSL	OMIM:103050
HP:0031797	Clinical course	79717	PPCS	OMIM:618189
HP:0031797	Clinical course	81555	YIPF5	OMIM:619278
HP:0031797	Clinical course	90268	OTULIN	OMIM:617099
HP:0031797	Clinical course	4574	MT-TS1	OMIM:220110
HP:0031797	Clinical course	4570	MT-TN	OMIM:220110
HP:0031797	Clinical course	6834	SURF1	OMIM:220110
HP:0031797	Clinical course	80821	DDHD1	OMIM:609340
HP:0031797	Clinical course	775	CACNA1C	OMIM:620029
HP:0031797	Clinical course	347734	SLC35B2	OMIM:620269
HP:0031797	Clinical course	55325	UFSP2	OMIM:620028
HP:0031797	Clinical course	55325	UFSP2	OMIM:617974
HP:0031797	Clinical course	4774	NFIA	OMIM:613735
HP:0031797	Clinical course	1119	CHKA	OMIM:620023
HP:0031797	Clinical course	118987	PDZD8	OMIM:620021
HP:0031797	Clinical course	57176	VARS2	OMIM:615917
HP:0031797	Clinical course	80222	TARS2	OMIM:615918
HP:0031797	Clinical course	5293	PIK3CD	OMIM:619281
HP:0031797	Clinical course	3073	HEXA	OMIM:272800
HP:0031797	Clinical course	6840	SVIL	OMIM:619040
HP:0031797	Clinical course	2617	GARS1	OMIM:619042
HP:0031797	Clinical course	4983	OPHN1	OMIM:300486
HP:0031797	Clinical course	2050	EPHB4	OMIM:618196
HP:0031797	Clinical course	6576	SLC25A1	OMIM:618197
HP:0031797	Clinical course	1352	COX10	OMIM:619046
HP:0031797	Clinical course	973	CD79A	OMIM:613501
HP:0031797	Clinical course	3543	IGLL1	OMIM:613500
HP:0031797	Clinical course	2911	GRM1	OMIM:614831
HP:0031797	Clinical course	6507	SLC1A3	OMIM:612656
HP:0031797	Clinical course	29760	BLNK	OMIM:613502
HP:0031797	Clinical course	63908	NAPB	OMIM:620033
HP:0031797	Clinical course	7298	TYMS	OMIM:620040
HP:0031797	Clinical course	8647	ABCB11	OMIM:601847
HP:0031797	Clinical course	2892	GRIA3	OMIM:300699
HP:0031797	Clinical course	100131801	PET100	OMIM:619055
HP:0031797	Clinical course	9739	SETD1A	OMIM:619056
HP:0031797	Clinical course	191	AHCY	OMIM:613752
HP:0031797	Clinical course	6499	SKIC2	OMIM:614602
HP:0031797	Clinical course	686	BTD	OMIM:253260
HP:0031797	Clinical course	340061	STING1	OMIM:615934
HP:0031797	Clinical course	36	ACADSB	OMIM:610006
HP:0031797	Clinical course	256297	PTF1A	OMIM:615935
HP:0031797	Clinical course	5896	RAG1	OMIM:233650
HP:0031797	Clinical course	5897	RAG2	OMIM:233650
HP:0031797	Clinical course	10716	TBR1	OMIM:606053
HP:0031797	Clinical course	1854	DUT	OMIM:620044
HP:0031797	Clinical course	79087	ALG12	OMIM:607143
HP:0031797	Clinical course	1339	COX6A2	OMIM:619062
HP:0031797	Clinical course	8802	SUCLG1	OMIM:245400
HP:0031797	Clinical course	9377	COX5A	OMIM:619064
HP:0031797	Clinical course	4591	TRIM37	OMIM:253250
HP:0031797	Clinical course	124512	METTL23	OMIM:615942
HP:0031797	Clinical course	2214	FCGR3A	OMIM:615707
HP:0031797	Clinical course	65250	CPLANE1	OMIM:614615
HP:0031797	Clinical course	79443	FYCO1	OMIM:610019
HP:0031797	Clinical course	1991	ELANE	OMIM:202700
HP:0031797	Clinical course	2984	GUCY2C	OMIM:614616
HP:0031797	Clinical course	7915	ALDH5A1	OMIM:271980
HP:0031797	Clinical course	23265	EXOC7	OMIM:619072
HP:0031797	Clinical course	1802	DPH2	OMIM:620062
HP:0031797	Clinical course	443	ASPA	OMIM:271900
HP:0031797	Clinical course	6792	CDKL5	OMIM:300672
HP:0031797	Clinical course	5091	PC	OMIM:266150
HP:0031797	Clinical course	3028	HSD17B10	OMIM:300438
HP:0031797	Clinical course	3852	KRT5	OMIM:131960
HP:0031797	Clinical course	2677	GGCX	OMIM:277450
HP:0031797	Clinical course	6774	STAT3	OMIM:615952
HP:0031797	Clinical course	6774	STAT3	OMIM:147060
HP:0031797	Clinical course	5828	PEX2	OMIM:614867
HP:0031797	Clinical course	2073	ERCC5	OMIM:278780
HP:0031797	Clinical course	10290	SPEG	OMIM:615959
HP:0031797	Clinical course	5978	REST	OMIM:616806
HP:0031797	Clinical course	93210	PGAP3	OMIM:615716
HP:0031797	Clinical course	1188	CLCNKB	OMIM:607364
HP:0031797	Clinical course	5700	PSMC1	OMIM:620071
HP:0031797	Clinical course	190	NR0B1	OMIM:300200
HP:0031797	Clinical course	728294	D2HGDH	OMIM:600721
HP:0031797	Clinical course	9095	TBX19	OMIM:201400
HP:0031797	Clinical course	6261	RYR1	OMIM:117000
HP:0031797	Clinical course	8481	OFD1	OMIM:300209
HP:0031797	Clinical course	974	CD79B	OMIM:612692
HP:0031797	Clinical course	54919	DNAAF5	OMIM:614874
HP:0031797	Clinical course	9568	GABBR2	OMIM:617903
HP:0031797	Clinical course	9568	GABBR2	OMIM:617904
HP:0031797	Clinical course	5591	PRKDC	OMIM:615966
HP:0031797	Clinical course	5336	PLCG2	OMIM:614878
HP:0031797	Clinical course	5336	PLCG2	OMIM:614468
HP:0031797	Clinical course	1811	SLC26A3	OMIM:214700
HP:0031797	Clinical course	6231	RPS26	OMIM:613309
HP:0031797	Clinical course	6204	RPS10	OMIM:613308
HP:0031797	Clinical course	65217	PCDH15	OMIM:609533
HP:0031797	Clinical course	4677	NARS1	OMIM:619091
HP:0031797	Clinical course	9342	SNAP29	OMIM:609528
HP:0031797	Clinical course	81031	SLC2A10	OMIM:208050
HP:0031797	Clinical course	254065	BRWD3	OMIM:300659
HP:0031797	Clinical course	9147	NEMF	OMIM:619099
HP:0031797	Clinical course	282809	POC1B	OMIM:615973
HP:0031797	Clinical course	26047	CNTNAP2	OMIM:610042
HP:0031797	Clinical course	57654	UVSSA	OMIM:614640
HP:0031797	Clinical course	50628	GEMIN4	OMIM:617913
HP:0031797	Clinical course	2056	EPO	OMIM:617911
HP:0031797	Clinical course	5195	PEX14	OMIM:614887
HP:0031797	Clinical course	84317	CCDC115	OMIM:616828
HP:0031797	Clinical course	3954	LETM1	OMIM:620089
HP:0031797	Clinical course	1487	CTBP1	OMIM:617915
HP:0031797	Clinical course	506	ATP5F1B	OMIM:620085
HP:0031797	Clinical course	4313	MMP2	OMIM:259600
HP:0031797	Clinical course	92154	MTSS2	OMIM:620086
HP:0031797	Clinical course	7248	TSC1	OMIM:607341
HP:0031797	Clinical course	2475	MTOR	OMIM:607341
HP:0031797	Clinical course	2475	MTOR	OMIM:616638
HP:0031797	Clinical course	84978	FRMD5	OMIM:620094
HP:0031797	Clinical course	23636	NUP62	OMIM:271930
HP:0031797	Clinical course	51004	COQ6	OMIM:614650
HP:0031797	Clinical course	93183	PIGM	OMIM:610293
HP:0031797	Clinical course	3593	IL12B	OMIM:614890
HP:0031797	Clinical course	2581	GALC	OMIM:245200
HP:0031797	Clinical course	867	CBL	OMIM:613563
HP:0031797	Clinical course	85478	CCDC65	OMIM:615504
HP:0031797	Clinical course	6597	SMARCA4	OMIM:613325
HP:0031797	Clinical course	284119	CAVIN1	OMIM:613327
HP:0031797	Clinical course	2554	GABRA1	OMIM:615744
HP:0031797	Clinical course	137492	VPS37A	OMIM:614898
HP:0031797	Clinical course	10695	CNPY3	OMIM:617929
HP:0031797	Clinical course	5376	PMP22	OMIM:145900
HP:0031797	Clinical course	1959	EGR2	OMIM:145900
HP:0031797	Clinical course	57716	PRX	OMIM:145900
HP:0031797	Clinical course	1738	DLD	OMIM:246900
HP:0031797	Clinical course	201294	UNC13D	OMIM:608898
HP:0031797	Clinical course	7080	NKX2-1	OMIM:118700
HP:0031797	Clinical course	2982	GUCY1A1	OMIM:615750
HP:0031797	Clinical course	5193	PEX12	OMIM:266510
HP:0031797	Clinical course	100151683	RNU4ATAC	OMIM:210710
HP:0031797	Clinical course	29926	GMPPA	OMIM:615510
HP:0031797	Clinical course	9289	ADGRG1	OMIM:615752
HP:0031797	Clinical course	8924	HERC2	OMIM:615516
HP:0031797	Clinical course	3932	LCK	OMIM:615758
HP:0031797	Clinical course	53616	ADAM22	OMIM:617933
HP:0031797	Clinical course	7545	ZIC1	OMIM:616602
HP:0031797	Clinical course	4803	NGF	OMIM:608654
HP:0031797	Clinical course	6328	SCN3A	OMIM:617938
HP:0031797	Clinical course	8626	TP63	OMIM:604292
HP:0031797	Clinical course	27249	MMADHC	OMIM:277410
HP:0031797	Clinical course	411	ARSB	OMIM:253200
HP:0031797	Clinical course	54768	HYDIN	OMIM:608647
HP:0031797	Clinical course	5443	POMC	OMIM:609734
HP:0031797	Clinical course	55187	VPS13D	OMIM:607317
HP:0031797	Clinical course	57526	PCDH19	OMIM:300088
HP:0031797	Clinical course	55209	SETD5	OMIM:615761
HP:0031797	Clinical course	5167	ENPP1	OMIM:615522
HP:0031797	Clinical course	6813	STXBP2	OMIM:613101
HP:0031797	Clinical course	58	ACTA1	OMIM:616852
HP:0031797	Clinical course	79631	EFL1	OMIM:617941
HP:0031797	Clinical course	7280	TUBB2A	OMIM:615763
HP:0031797	Clinical course	5429	POLH	OMIM:278750
HP:0031797	Clinical course	1825	DSC3	OMIM:613102
HP:0031797	Clinical course	56997	COQ8A	OMIM:612016
HP:0031797	Clinical course	91869	RFT1	OMIM:612015
HP:0031797	Clinical course	59067	IL21	OMIM:615767
HP:0031797	Clinical course	6301	SARS1	OMIM:617709
HP:0031797	Clinical course	1644	DDC	OMIM:608643
HP:0031797	Clinical course	1767	DNAH5	OMIM:608644
HP:0031797	Clinical course	64221	ROBO3	OMIM:607313
HP:0031797	Clinical course	26224	FBXL3	OMIM:606220
HP:0031797	Clinical course	51116	MRPS2	OMIM:617950
HP:0031797	Clinical course	79572	ATP13A3	OMIM:265400
HP:0031797	Clinical course	5530	PPP3CA	OMIM:617711
HP:0031797	Clinical course	6097	RORC	OMIM:616622
HP:0031797	Clinical course	10352	WARS2	OMIM:617710
HP:0031797	Clinical course	51206	GP6	OMIM:614201
HP:0031797	Clinical course	27315	PGAP2	OMIM:614207
HP:0031797	Clinical course	26525	IL36RN	OMIM:614204
HP:0031797	Clinical course	10095	ARPC1B	OMIM:617718
HP:0031797	Clinical course	9056	SLC7A7	OMIM:222700
HP:0031797	Clinical course	2324	FLT4	OMIM:602089
HP:0031797	Clinical course	84168	ANTXR1	OMIM:602089
HP:0031797	Clinical course	3791	KDR	OMIM:602089
HP:0031797	Clinical course	1641	DCX	OMIM:300067
HP:0031797	Clinical course	163183	SYNE4	OMIM:615540
HP:0031797	Clinical course	80185	TTI2	OMIM:615541
HP:0031797	Clinical course	55780	ERMARD	OMIM:615544
HP:0031797	Clinical course	7289	TULP3	OMIM:619902
HP:0031797	Clinical course	54664	TMEM106B	OMIM:617964
HP:0031797	Clinical course	7421	VDR	OMIM:277440
HP:0031797	Clinical course	1729	DIAPH1	OMIM:616632
HP:0031797	Clinical course	6773	STAT2	OMIM:616636
HP:0031797	Clinical course	54551	MAGEL2	OMIM:615547
HP:0031797	Clinical course	27010	TPK1	OMIM:614458
HP:0031797	Clinical course	6444	SGCD	OMIM:606685
HP:0031797	Clinical course	7074	TIAM1	OMIM:619908
HP:0031797	Clinical course	51128	SAR1B	OMIM:246700
HP:0031797	Clinical course	10269	ZMPSTE24	OMIM:608612
HP:0031797	Clinical course	112858	TP53RK	OMIM:617730
HP:0031797	Clinical course	11280	SCN11A	OMIM:615552
HP:0031797	Clinical course	51501	HIKESHI	OMIM:616881
HP:0031797	Clinical course	57468	SLC12A5	OMIM:616645
HP:0031797	Clinical course	10815	CPLX1	OMIM:617976
HP:0031797	Clinical course	3747	KCNC2	OMIM:619913
HP:0031797	Clinical course	2588	GALNS	OMIM:253000
HP:0031797	Clinical course	84617	TUBB6	OMIM:617732
HP:0031797	Clinical course	490	ATP2B1	OMIM:619910
HP:0031797	Clinical course	3704	ITPA	OMIM:616647
HP:0031797	Clinical course	5205	ATP8B1	OMIM:211600
HP:0031797	Clinical course	338	APOB	OMIM:615558
HP:0031797	Clinical course	1917	EEF1A2	OMIM:616409
HP:0031797	Clinical course	23209	MLC1	OMIM:604004
HP:0031797	Clinical course	2316	FLNA	OMIM:300048
HP:0031797	Clinical course	368	ABCC6	OMIM:614473
HP:0031797	Clinical course	5788	PTPRC	OMIM:619924
HP:0031797	Clinical course	4780	NFE2L2	OMIM:617744
HP:0031797	Clinical course	79867	TCTN2	OMIM:616654
HP:0031797	Clinical course	23310	NCAPD3	OMIM:617984
HP:0031797	Clinical course	2890	GRIA1	OMIM:619927
HP:0031797	Clinical course	2890	GRIA1	OMIM:619931
HP:0031797	Clinical course	2741	GLRA1	OMIM:149400
HP:0031797	Clinical course	10243	GPHN	OMIM:149400
HP:0031797	Clinical course	54805	CNNM2	OMIM:616418
HP:0031797	Clinical course	55164	SHQ1	OMIM:619921
HP:0031797	Clinical course	55164	SHQ1	OMIM:619922
HP:0031797	Clinical course	6509	SLC1A4	OMIM:616657
HP:0031797	Clinical course	54676	GTPBP2	OMIM:617988
HP:0031797	Clinical course	100506658	OCLN	OMIM:251290
HP:0031797	Clinical course	9215	LARGE1	OMIM:608840
HP:0031797	Clinical course	2819	GPD1	OMIM:614480
HP:0031797	Clinical course	374462	PTPRQ	OMIM:613391
HP:0031797	Clinical course	5879	RAC1	OMIM:617751
HP:0031797	Clinical course	55023	PHIP	OMIM:617991
HP:0031797	Clinical course	3454	IFNAR1	OMIM:619935
HP:0031797	Clinical course	2990	GUSB	OMIM:253220
HP:0031797	Clinical course	10585	POMT1	OMIM:613155
HP:0031797	Clinical course	29954	POMT2	OMIM:613158
HP:0031797	Clinical course	5718	PSMD12	OMIM:617516
HP:0031797	Clinical course	51294	PCDH12	OMIM:251280
HP:0031797	Clinical course	55812	SPATA7	OMIM:604232
HP:0031797	Clinical course	6223	RPS19	OMIM:105650
HP:0031797	Clinical course	2639	GCDH	OMIM:231670
HP:0031797	Clinical course	51733	UPB1	OMIM:613161
HP:0031797	Clinical course	101929726	MYMX	OMIM:619941
HP:0031797	Clinical course	23404	EXOSC2	OMIM:617763
HP:0031797	Clinical course	8803	SUCLA2	OMIM:612073
HP:0031797	Clinical course	79587	CARS2	OMIM:616672
HP:0031797	Clinical course	2697	GJA1	OMIM:617525
HP:0031797	Clinical course	96459	FNIP1	OMIM:619705
HP:0031797	Clinical course	1794	DOCK2	OMIM:616433
HP:0031797	Clinical course	55753	OGDHL	OMIM:619701
HP:0031797	Clinical course	126792	B3GALT6	OMIM:615349
HP:0031797	Clinical course	58499	ZNF462	OMIM:618619
HP:0031797	Clinical course	25974	MMACHC	OMIM:277400
HP:0031797	Clinical course	5052	PRDX1	OMIM:277400
HP:0031797	Clinical course	8328	GFI1B	OMIM:187900
HP:0031797	Clinical course	4292	MLH1	OMIM:158320
HP:0031797	Clinical course	4436	MSH2	OMIM:158320
HP:0031797	Clinical course	1410	CRYAB	OMIM:608810
HP:0031797	Clinical course	1410	CRYAB	OMIM:615184
HP:0031797	Clinical course	10159	ATP6AP2	OMIM:300911
HP:0031797	Clinical course	7384	UQCRC1	OMIM:619279
HP:0031797	Clinical course	6331	SCN5A	OMIM:614022
HP:0031797	Clinical course	583	BBS2	OMIM:616562
HP:0031797	Clinical course	4750	NEK1	OMIM:617892
HP:0031797	Clinical course	8573	CASK	OMIM:300908
HP:0031797	Clinical course	2539	G6PD	OMIM:300908
HP:0031797	Clinical course	9782	MATR3	OMIM:606070
HP:0031797	Clinical course	3910	LAMA4	OMIM:615235
HP:0031797	Clinical course	7277	TUBA4A	OMIM:616208
HP:0031797	Clinical course	5165	PDK3	OMIM:300905
HP:0031797	Clinical course	3703	STT3A	OMIM:619714
HP:0031797	Clinical course	5894	RAF1	OMIM:615916
HP:0031797	Clinical course	70	ACTC1	OMIM:612098
HP:0031797	Clinical course	70	ACTC1	OMIM:613424
HP:0031797	Clinical course	84665	MYPN	OMIM:615248
HP:0031797	Clinical course	84665	MYPN	OMIM:617336
HP:0031797	Clinical course	3759	KCNJ2	OMIM:613980
HP:0031797	Clinical course	54982	CLN6	OMIM:204300
HP:0031797	Clinical course	1824	DSC2	OMIM:610476
HP:0031797	Clinical course	4884	NPTX1	OMIM:620158
HP:0031797	Clinical course	7015	TERT	OMIM:613989
HP:0031797	Clinical course	55034	MOCOS	OMIM:603592
HP:0031797	Clinical course	5649	RELN	OMIM:600512
HP:0031797	Clinical course	64780	MICAL1	OMIM:600512
HP:0031797	Clinical course	9211	LGI1	OMIM:600512
HP:0031797	Clinical course	64601	VPS16	OMIM:619291
HP:0031797	Clinical course	653509	SFTPA1	OMIM:619611
HP:0031797	Clinical course	57449	PLEKHG5	OMIM:615376
HP:0031797	Clinical course	79797	ZNF408	OMIM:616469
HP:0031797	Clinical course	79797	ZNF408	OMIM:616468
HP:0031797	Clinical course	4901	NRL	OMIM:613750
HP:0031797	Clinical course	2702	GJA5	OMIM:614049
HP:0031797	Clinical course	6324	SCN1B	OMIM:615377
HP:0031797	Clinical course	6327	SCN2B	OMIM:615378
HP:0031797	Clinical course	9149	DYRK1B	OMIM:615812
HP:0031797	Clinical course	8930	MBD4	OMIM:619975
HP:0031797	Clinical course	311	ANXA11	OMIM:619733
HP:0031797	Clinical course	311	ANXA11	OMIM:617839
HP:0031797	Clinical course	5350	PLN	OMIM:613874
HP:0031797	Clinical course	5173	PDYN	OMIM:610245
HP:0031797	Clinical course	80201	HKDC1	OMIM:619614
HP:0031797	Clinical course	7123	CLEC3B	OMIM:619977
HP:0031797	Clinical course	29967	LRP12	OMIM:164310
HP:0031797	Clinical course	9750	RIPOR2	OMIM:607017
HP:0031797	Clinical course	10060	ABCC9	OMIM:614050
HP:0031797	Clinical course	10060	ABCC9	OMIM:608569
HP:0031797	Clinical course	659	BMPR2	OMIM:178600
HP:0031797	Clinical course	5442	POLRMT	OMIM:619743
HP:0031797	Clinical course	65055	REEP1	OMIM:610250
HP:0031797	Clinical course	9517	SPTLC2	OMIM:613640
HP:0031797	Clinical course	9531	BAG3	OMIM:613881
HP:0031797	Clinical course	1600	DAB1	OMIM:615945
HP:0031797	Clinical course	6392	SDHD	OMIM:168000
HP:0031797	Clinical course	9096	TBX18	OMIM:143400
HP:0031797	Clinical course	4854	NOTCH3	OMIM:125310
HP:0031797	Clinical course	4117	MAK	OMIM:614181
HP:0031797	Clinical course	5314	PKHD1	OMIM:263200
HP:0031797	Clinical course	5255	PHKA1	OMIM:300559
HP:0031797	Clinical course	54902	TTC19	OMIM:615157
HP:0031797	Clinical course	51604	PIGT	OMIM:615399
HP:0031797	Clinical course	4878	NPPA	OMIM:612201
HP:0031797	Clinical course	57863	CADM3	OMIM:619519
HP:0031797	Clinical course	389692	MAFA	OMIM:147630
HP:0031797	Clinical course	7139	TNNT2	OMIM:115195
HP:0031797	Clinical course	7139	TNNT2	OMIM:601494
HP:0031797	Clinical course	60481	ELOVL5	OMIM:615957
HP:0031797	Clinical course	4763	NF1	OMIM:162210
HP:0031797	Clinical course	23095	KIF1B	OMIM:118210
HP:0031797	Clinical course	4437	MSH3	OMIM:617100
HP:0031797	Clinical course	3075	CFH	OMIM:126700
HP:0031797	Clinical course	2542	SLC37A4	OMIM:619525
HP:0031797	Clinical course	6117	RPA1	OMIM:619767
HP:0031797	Clinical course	11149	BVES	OMIM:616812
HP:0031797	Clinical course	5663	PSEN1	OMIM:600274
HP:0031797	Clinical course	5663	PSEN1	OMIM:613694
HP:0031797	Clinical course	1282	COL4A1	OMIM:618564
HP:0031797	Clinical course	9992	KCNE2	OMIM:611493
HP:0031797	Clinical course	3717	JAK2	OMIM:263300
HP:0031797	Clinical course	3752	KCND3	OMIM:607346
HP:0031797	Clinical course	3752	KCND3	OMIM:616399
HP:0031797	Clinical course	7045	TGFBI	OMIM:121820
HP:0031797	Clinical course	351	APP	OMIM:605714
HP:0031797	Clinical course	5654	HTRA1	OMIM:600142
HP:0031797	Clinical course	5654	HTRA1	OMIM:616779
HP:0031797	Clinical course	23676	SMPX	OMIM:301075
HP:0031797	Clinical course	9217	VAPB	OMIM:182980
HP:0031797	Clinical course	9217	VAPB	OMIM:608627
HP:0031797	Clinical course	59345	GNB4	OMIM:615185
HP:0031797	Clinical course	50939	IMPG2	OMIM:616152
HP:0031797	Clinical course	23093	TTLL5	OMIM:615860
HP:0031797	Clinical course	51142	CHCHD2	OMIM:616710
HP:0031797	Clinical course	339453	TMEM240	OMIM:607454
HP:0031797	Clinical course	1674	DES	OMIM:181400
HP:0031797	Clinical course	1861	TOR1A	OMIM:128100
HP:0031797	Clinical course	8729	GBF1	OMIM:606483
HP:0031797	Clinical course	1134	CHRNA1	OMIM:601462
HP:0031797	Clinical course	92935	MARS2	OMIM:611390
HP:0031797	Clinical course	3741	KCNA5	OMIM:612240
HP:0031797	Clinical course	4311	MME	OMIM:617018
HP:0031797	Clinical course	4311	MME	OMIM:617017
HP:0031797	Clinical course	5664	PSEN2	OMIM:613697
HP:0031797	Clinical course	5664	PSEN2	OMIM:606889
HP:0031797	Clinical course	2066	ERBB4	OMIM:615515
HP:0031797	Clinical course	3315	HSPB1	OMIM:606595
HP:0031797	Clinical course	10516	FBLN5	OMIM:608895
HP:0031797	Clinical course	2200	FBN1	OMIM:129600
HP:0031797	Clinical course	7555	CNBP	OMIM:602668
HP:0031797	Clinical course	256471	MFSD8	OMIM:616170
HP:0031797	Clinical course	7317	UBA1	OMIM:301054
HP:0031797	Clinical course	3748	KCNC3	OMIM:605259
HP:0031797	Clinical course	1822	ATN1	OMIM:125370
HP:0031797	Clinical course	440193	CCDC88C	OMIM:616053
HP:0031797	Clinical course	25814	ATXN10	OMIM:603516
HP:0031797	Clinical course	57798	GATAD1	OMIM:614672
HP:0031797	Clinical course	1829	DSG2	OMIM:610193
HP:0031797	Clinical course	440275	EIF2AK4	OMIM:234810
HP:0031797	Clinical course	54822	TRPM7	OMIM:105500
HP:0031797	Clinical course	4010	LMX1B	OMIM:256020
HP:0031797	Clinical course	324	APC	OMIM:135290
HP:0031797	Clinical course	3784	KCNQ1	OMIM:607554
HP:0031797	Clinical course	343641	TGM6	OMIM:613908
HP:0031797	Clinical course	5071	PRKN	OMIM:600116
HP:0031797	Clinical course	1181	CLCN2	OMIM:615651
HP:0031797	Clinical course	8622	PDE8B	OMIM:609161
HP:0031797	Clinical course	8314	BAP1	OMIM:614327
HP:0031797	Clinical course	1000	CDH2	OMIM:618920
HP:0031797	Clinical course	5837	PYGM	OMIM:232600
HP:0031797	Clinical course	100134444	KCNJ18	OMIM:613239
HP:0031797	Clinical course	825	CAPN3	OMIM:618129
HP:0031797	Clinical course	55975	KLHL7	OMIM:612943
HP:0031797	Clinical course	116442	RAB39B	OMIM:311510
HP:0031797	Clinical course	3119	HLA-DQB1	OMIM:123400
HP:0031797	Clinical course	5621	PRNP	OMIM:123400
HP:0031797	Clinical course	5621	PRNP	OMIM:606688
HP:0031797	Clinical course	2632	GBE1	OMIM:263570
HP:0031797	Clinical course	2318	FLNC	OMIM:617047
HP:0031797	Clinical course	9445	ITM2B	OMIM:616079
HP:0031797	Clinical course	4015	LOX	OMIM:617168
HP:0031797	Clinical course	10667	FARS2	OMIM:617046
HP:0031797	Clinical course	2992	GYG1	OMIM:616199
HP:0031797	Clinical course	55800	SCN3B	OMIM:613120
HP:0031797	Clinical course	4072	EPCAM	OMIM:613244
HP:0031797	Clinical course	3178	HNRNPA1	OMIM:615424
HP:0031797	Clinical course	7134	TNNC1	OMIM:613243
HP:0031797	Clinical course	7134	TNNC1	OMIM:611879
HP:0031797	Clinical course	91624	NEXN	OMIM:613122
HP:0031797	Clinical course	26060	APPL1	OMIM:616511
HP:0031797	Clinical course	10320	IKZF1	OMIM:616873
HP:0031797	Clinical course	2224	FDPS	OMIM:616631
HP:0031797	Clinical course	9563	H6PD	OMIM:604931
HP:0031797	Clinical course	57338	JPH3	OMIM:606438
HP:0031797	Clinical course	1816	DRD5	OMIM:606798
HP:0031797	Clinical course	55791	LRIF1	OMIM:619477
HP:0031797	Clinical course	100996717	NOTCH2NLC	OMIM:619473
HP:0031797	Clinical course	4624	MYH6	OMIM:613252
HP:0031797	Clinical course	7414	VCL	OMIM:613255
HP:0031797	Clinical course	7414	VCL	OMIM:611407
HP:0031797	Clinical course	84196	USP48	OMIM:620227
HP:0031797	Clinical course	84839	RAX2	OMIM:620102
HP:0031797	Clinical course	7168	TPM1	OMIM:611878
HP:0031797	Clinical course	672	BRCA1	OMIM:604370
HP:0031797	Clinical course	1495	CTNNA1	OMIM:608970
HP:0031797	Clinical course	84868	HAVCR2	OMIM:618398
HP:0031797	Clinical course	10483	SEC23B	OMIM:224100
HP:0031797	Clinical course	3827	KNG1	OMIM:619363
HP:0031797	Clinical course	491	ATP2B2	OMIM:619804
HP:0031797	Clinical course	219285	SAMD9L	OMIM:619806
HP:0031797	Clinical course	8911	CACNA1I	OMIM:620114
HP:0031797	Clinical course	3710	ITPR3	OMIM:620111
HP:0031797	Clinical course	10137	RBM12	OMIM:617629
HP:0031797	Clinical course	6785	ELOVL4	OMIM:133190
HP:0031797	Clinical course	9516	LITAF	OMIM:601098
HP:0031797	Clinical course	4131	MAP1B	OMIM:619808
HP:0031797	Clinical course	5660	PSAP	OMIM:619491
HP:0031797	Clinical course	25978	CHMP2B	OMIM:600795
HP:0031797	Clinical course	1716	DGUOK	OMIM:617070
HP:0031797	Clinical course	6389	SDHA	OMIM:619259
HP:0031797	Clinical course	1540	CYLD	OMIM:619132
HP:0031797	Clinical course	7072	TIA1	OMIM:619133
HP:0031797	Clinical course	8651	SOCS1	OMIM:619375
HP:0031797	Clinical course	138050	HGSNAT	OMIM:616544
HP:0031797	Clinical course	7716	VEZF1	OMIM:620247
HP:0031797	Clinical course	654	BMP6	OMIM:620121
HP:0031797	Clinical course	6609	SMPD1	OMIM:607616
HP:0031797	Clinical course	348	APOE	OMIM:606889
HP:0031797	Clinical course	4359	MPZ	OMIM:607736
HP:0031797	Clinical course	899	CCNF	OMIM:619141
HP:0031797	Clinical course	23193	GANAB	OMIM:600666
HP:0031797	Clinical course	6103	RPGR	OMIM:300029
HP:0031797	Clinical course	857	CAV1	OMIM:615343
HP:0031797	Clinical course	4747	NEFL	OMIM:617882
HP:0031797	Clinical course	1981	EIF4G1	OMIM:614251
HP:0031797	Clinical course	7137	TNNI3	OMIM:613286
HP:0031797	Clinical course	79875	THSD4	OMIM:619825
HP:0031797	Clinical course	16	AARS1	OMIM:613287
HP:0031797	Clinical course	2196	FAT2	OMIM:617769
HP:0031797	Clinical course	55901	THSD1	OMIM:618734
HP:0031797	Clinical course	8996	NOL3	OMIM:614937
HP:0031797	Clinical course	10299	MARCHF6	OMIM:613608
HP:0031797	Clinical course	55129	ANO10	OMIM:613728
HP:0031797	Clinical course	80036	TRPM3	OMIM:620253
HP:0031797	Clinical course	7293	TNFRSF4	OMIM:615593
HP:0031797	Clinical course	63924	CIDEC	OMIM:615238
HP:0031797	Clinical course	1736	DKC1	OMIM:305000
HP:0031797	Clinical course	27022	FOXD3	OMIM:607836
HP:0031797	Clinical course	2099	ESR1	OMIM:615363
HP:0031797	Clinical course	79639	TMEM53	OMIM:619727
HP:0031797	Clinical course	10686	CLDN16	OMIM:248250
HP:0031797	Clinical course	1476	CSTB	OMIM:254800
HP:0031797	Clinical course	51083	GAL	OMIM:616461
HP:0031797	Clinical course	567	B2M	OMIM:241600
HP:0031797	Clinical course	9723	SEMA3E	OMIM:146110
HP:0031797	Clinical course	558	AXL	OMIM:146110
HP:0031797	Clinical course	2798	GNRHR	OMIM:146110
HP:0031797	Clinical course	2796	GNRH1	OMIM:146110
HP:0031797	Clinical course	10011	SRA1	OMIM:146110
HP:0031797	Clinical course	8822	FGF17	OMIM:146110
HP:0031797	Clinical course	1848	DUSP6	OMIM:146110
HP:0031797	Clinical course	81848	SPRY4	OMIM:146110
HP:0031797	Clinical course	285025	CCDC141	OMIM:146110
HP:0031797	Clinical course	1201	CLN3	OMIM:204200
HP:0031797	Clinical course	4053	LTBP2	OMIM:251750
HP:0031797	Clinical course	29775	CARD10	OMIM:619632
HP:0031797	Clinical course	23767	FLRT3	OMIM:615271
HP:0031797	Clinical course	4808	NHLH2	OMIM:619755
HP:0031797	Clinical course	51284	TLR7	OMIM:301080
HP:0031797	Clinical course	84343	HPS3	OMIM:614072
HP:0031797	Clinical course	150274	HSCB	OMIM:619523
HP:0031797	Clinical course	5800	PTPRO	OMIM:614196
HP:0031797	Clinical course	64377	CHST8	OMIM:616265
HP:0031797	Clinical course	2395	FXN	OMIM:229300
HP:0031797	Clinical course	79651	RHBDF2	OMIM:148500
HP:0031797	Clinical course	8974	P4HA2	OMIM:617238
HP:0031797	Clinical course	2591	GALNT3	OMIM:211900
HP:0031797	Clinical course	1967	EIF2B1	OMIM:603896
HP:0031797	Clinical course	5083	PAX9	OMIM:604625
HP:0031797	Clinical course	23514	SPIDR	OMIM:619665
HP:0031797	Clinical course	10142	AKAP9	OMIM:611820
HP:0031797	Clinical course	9138	ARHGEF1	OMIM:618459
HP:0031797	Clinical course	2774	GNAL	OMIM:615073
HP:0031797	Clinical course	9210	BMP15	OMIM:300510
HP:0031797	Clinical course	4722	NDUFS3	OMIM:618230
HP:0031797	Clinical course	60509	AGBL5	OMIM:617023
HP:0031797	Clinical course	3939	LDHA	OMIM:612933
HP:0031797	Clinical course	54344	DPM3	OMIM:612937
HP:0031797	Clinical course	4166	CHST6	OMIM:217800
HP:0031797	Clinical course	254394	MCM9	OMIM:616185
HP:0031797	Clinical course	6530	SLC6A2	OMIM:604715
HP:0031797	Clinical course	7275	TUB	OMIM:616188
HP:0031797	Clinical course	112812	FDX2	OMIM:251900
HP:0031797	Clinical course	55213	RCBTB1	OMIM:617175
HP:0031797	Clinical course	1053	CEBPE	OMIM:260570
HP:0031797	Clinical course	920	CD4	OMIM:619238
HP:0031797	Clinical course	6573	SLC19A1	OMIM:601775
HP:0031797	Clinical course	60676	PAPPA2	OMIM:619489
HP:0031797	Clinical course	256472	TMEM151A	OMIM:620245
HP:0031797	Clinical course	1719	DHFR	OMIM:613839
HP:0031797	Clinical course	51778	MYOZ2	OMIM:613838
HP:0031797	Clinical course	403	ARL3	OMIM:618173
HP:0031797	Clinical course	125170	MIEF2	OMIM:619024
HP:0031797	Clinical course	6559	SLC12A3	OMIM:263800
HP:0031797	Clinical course	6342	SCP2	OMIM:613724
HP:0031797	Clinical course	55851	PSENEN	OMIM:613736
HP:0031797	Clinical course	130557	ZNF513	OMIM:613617
HP:0031797	Clinical course	7879	RAB7A	OMIM:600882
HP:0031797	Clinical course	843	CASP10	OMIM:603909
HP:0031797	Clinical course	79947	DHDDS	OMIM:613861
HP:0031797	Clinical course	55651	NHP2	OMIM:613987
HP:0031797	Clinical course	84634	KISS1R	OMIM:614837
HP:0031797	Clinical course	1427	CRYGS	OMIM:116100
HP:0031797	Clinical course	116228	COX20	OMIM:619054
HP:0031797	Clinical course	3814	KISS1	OMIM:614842
HP:0031797	Clinical course	22	ABCB7	OMIM:301310
HP:0031797	Clinical course	55775	TDP1	OMIM:607250
HP:0031797	Clinical course	2492	FSHR	OMIM:233300
HP:0031797	Clinical course	388551	CEACAM16	OMIM:614614
HP:0031797	Clinical course	6399	TRAPPC2	OMIM:313400
HP:0031797	Clinical course	283375	SLC39A5	OMIM:615946
HP:0031797	Clinical course	80216	ALPK1	OMIM:614979
HP:0031797	Clinical course	22953	P2RX2	OMIM:608224
HP:0031797	Clinical course	5149	PDE6H	OMIM:610024
HP:0031797	Clinical course	375748	ERCC6L2	OMIM:615715
HP:0031797	Clinical course	7274	TTPA	OMIM:277460
HP:0031797	Clinical course	5191	PEX7	OMIM:614879
HP:0031797	Clinical course	7234	TRU-TCA1-1	OMIM:620198
HP:0031797	Clinical course	5230	PGK1	OMIM:300653
HP:0031797	Clinical course	2717	GLA	OMIM:301500
HP:0031797	Clinical course	1535	CYBA	OMIM:233690
HP:0031797	Clinical course	29119	CTNNA3	OMIM:615616
HP:0031797	Clinical course	23534	TNPO3	OMIM:608423
HP:0031797	Clinical course	113457	TUBA3D	OMIM:617928
HP:0031797	Clinical course	3736	KCNA1	OMIM:160120
HP:0031797	Clinical course	4688	NCF2	OMIM:233710
HP:0031797	Clinical course	114327	EFHC1	OMIM:254770
HP:0031797	Clinical course	114327	EFHC1	OMIM:607631
HP:0031797	Clinical course	3290	HSD11B1	OMIM:614662
HP:0031797	Clinical course	6900	CNTN2	OMIM:615400
HP:0031797	Clinical course	6443	SGCB	OMIM:604286
HP:0031797	Clinical course	29893	PSMC3IP	OMIM:614324
HP:0031797	Clinical course	4634	MYL3	OMIM:608751
HP:0031797	Clinical course	7046	TGFBR1	OMIM:132800
HP:0031797	Clinical course	3868	KRT16	OMIM:613000
HP:0031797	Clinical course	55857	KIZ	OMIM:615780
HP:0031797	Clinical course	7098	TLR3	OMIM:613002
HP:0031797	Clinical course	7043	TGFB3	OMIM:107970
HP:0031797	Clinical course	11235	PDCD10	OMIM:603285
HP:0031797	Clinical course	10319	LAMC3	OMIM:614115
HP:0031797	Clinical course	3661	IRF3	OMIM:616532
HP:0031797	Clinical course	5294	PIK3CG	OMIM:619802
HP:0031797	Clinical course	29929	ALG6	OMIM:603147
HP:0031797	Clinical course	5538	PPT1	OMIM:256730
HP:0031797	Clinical course	1203	CLN5	OMIM:256731
HP:0031797	Clinical course	1297	COL9A1	OMIM:614135
HP:0031797	Clinical course	3689	ITGB2	OMIM:116920
HP:0031797	Clinical course	6555	SLC10A2	OMIM:613291
HP:0031797	Clinical course	51399	TRAPPC4	OMIM:618741
HP:0031797	Clinical course	23019	CNOT1	OMIM:618500
HP:0031797	Clinical course	57128	LYRM4	OMIM:615595
HP:0031797	Clinical course	3008	H1-4	OMIM:617537
HP:0031797	Clinical course	7849	PAX8	OMIM:218700
HP:0031797	Clinical course	396	ARHGDIA	OMIM:615244
HP:0031797	Clinical course	318	NUDT2	OMIM:619844
HP:0031797	Clinical course	9200	HACD1	OMIM:619967
HP:0031797	Clinical course	79147	FKRP	OMIM:606612
HP:0031797	Clinical course	1777	DNASE2	OMIM:619858
HP:0031797	Clinical course	85465	SELENOI	OMIM:618768
HP:0031797	Clinical course	790955	UQCC3	OMIM:616111
HP:0031797	Clinical course	11154	AP4S1	OMIM:614067
HP:0031797	Clinical course	6523	SLC5A1	OMIM:606824
HP:0031797	Clinical course	26137	ZBTB20	OMIM:259050
HP:0031797	Clinical course	9562	MINPP1	OMIM:619527
HP:0031797	Clinical course	54941	RNF125	OMIM:616260
HP:0031797	Clinical course	3172	HNF4A	OMIM:616026
HP:0031797	Clinical course	1585	CYP11B2	OMIM:610600
HP:0031797	Clinical course	1585	CYP11B2	OMIM:203400
HP:0031797	Clinical course	6595	SMARCA2	OMIM:601358
HP:0031797	Clinical course	345643	MCIDAS	OMIM:618695
HP:0031797	Clinical course	93233	ODAD1	OMIM:615067
HP:0031797	Clinical course	139212	DNAAF6	OMIM:300991
HP:0031797	Clinical course	4728	NDUFS8	OMIM:618222
HP:0031797	Clinical course	359	AQP2	OMIM:125800
HP:0031797	Clinical course	128869	PIGU	OMIM:618590
HP:0031797	Clinical course	10165	SLC25A13	OMIM:605814
HP:0031797	Clinical course	55610	VPS50	OMIM:619685
HP:0031797	Clinical course	23114	NFASC	OMIM:618356
HP:0031797	Clinical course	126328	NDUFA11	OMIM:618236
HP:0031797	Clinical course	4726	NDUFS6	OMIM:618232
HP:0031797	Clinical course	6833	ABCC8	OMIM:240800
HP:0031797	Clinical course	7846	TUBA1A	OMIM:611603
HP:0031797	Clinical course	5934	RBL2	OMIM:619690
HP:0031797	Clinical course	3938	LCT	OMIM:223000
HP:0031797	Clinical course	4704	NDUFA9	OMIM:618247
HP:0031797	Clinical course	55572	FOXRED1	OMIM:618241
HP:0031797	Clinical course	6718	AKR1D1	OMIM:235555
HP:0031797	Clinical course	439	GET3	OMIM:620203
HP:0031797	Clinical course	3913	LAMB2	OMIM:609049
HP:0031797	Clinical course	23258	DENND5A	OMIM:617281
HP:0031797	Clinical course	7161	TP73	OMIM:619466
HP:0031797	Clinical course	7253	TSHR	OMIM:609152
HP:0031797	Clinical course	3674	ITGA2B	OMIM:273800
HP:0031797	Clinical course	435	ASL	OMIM:207900
HP:0031797	Clinical course	5019	OXCT1	OMIM:245050
HP:0031797	Clinical course	1041	CDSN	OMIM:270300
HP:0031797	Clinical course	123264	SLC51B	OMIM:619481
HP:0031797	Clinical course	283446	MYO1H	OMIM:619482
HP:0031797	Clinical course	113189	CHST14	OMIM:601776
HP:0031797	Clinical course	9325	TRIP4	OMIM:617066
HP:0031797	Clinical course	285590	SH3PXD2B	OMIM:249420
HP:0031797	Clinical course	60558	GUF1	OMIM:617065
HP:0031797	Clinical course	374354	NHLRC2	OMIM:618278
HP:0031797	Clinical course	10660	LBX1	OMIM:619483
HP:0031797	Clinical course	6472	SHMT2	OMIM:619121
HP:0031797	Clinical course	3557	IL1RN	OMIM:612852
HP:0031797	Clinical course	539	ATP5PO	OMIM:620359
HP:0031797	Clinical course	55806	HR	OMIM:203655
HP:0031797	Clinical course	673	BRAF	OMIM:613707
HP:0031797	Clinical course	6554	SLC10A1	OMIM:619256
HP:0031797	Clinical course	2203	FBP1	OMIM:229700
HP:0031797	Clinical course	51371	POMP	OMIM:618048
HP:0031797	Clinical course	3295	HSD17B4	OMIM:261515
HP:0031797	Clinical course	129285	PPP1R21	OMIM:619383
HP:0031797	Clinical course	3690	ITGB3	OMIM:619267
HP:0031797	Clinical course	1373	CPS1	OMIM:237300
HP:0031797	Clinical course	284111	SLC13A5	OMIM:615905
HP:0031797	Clinical course	85016	CFAP300	OMIM:618063
HP:0031797	Clinical course	83538	ODAD4	OMIM:617092
HP:0031797	Clinical course	56916	SMARCAD1	OMIM:129200
HP:0031797	Clinical course	501	ALDH7A1	OMIM:266100
HP:0031797	Clinical course	3141	HLCS	OMIM:253270
HP:0031797	Clinical course	5015	OTX2	OMIM:613986
HP:0031797	Clinical course	9915	ARNT2	OMIM:615926
HP:0031797	Clinical course	79048	SECISBP2	OMIM:609698
HP:0031797	Clinical course	6005	RHAG	OMIM:185000
HP:0031797	Clinical course	5699	PSMB10	OMIM:619175
HP:0031797	Clinical course	92579	G6PC3	OMIM:612541
HP:0031797	Clinical course	8942	KYNU	OMIM:236800
HP:0031797	Clinical course	55107	ANO1	OMIM:620045
HP:0031797	Clinical course	132158	GLYCTK	OMIM:220120
HP:0031797	Clinical course	6999	TDO2	OMIM:600627
HP:0031797	Clinical course	50674	NEUROG3	OMIM:610370
HP:0031797	Clinical course	84300	UQCC2	OMIM:615824
HP:0031797	Clinical course	54658	UGT1A1	OMIM:237900
HP:0031797	Clinical course	9152	SLC6A5	OMIM:614618
HP:0031797	Clinical course	5826	ABCD4	OMIM:614857
HP:0031797	Clinical course	2743	GLRB	OMIM:614619
HP:0031797	Clinical course	64446	DNAI2	OMIM:612444
HP:0031797	Clinical course	79751	SLC25A22	OMIM:609304
HP:0031797	Clinical course	83475	DOHH	OMIM:620066
HP:0031797	Clinical course	4306	NR3C2	OMIM:177735
HP:0031797	Clinical course	5627	PROS1	OMIM:614514
HP:0031797	Clinical course	7837	PXDN	OMIM:269400
HP:0031797	Clinical course	7355	SLC35A2	OMIM:300896
HP:0031797	Clinical course	1634	DCN	OMIM:610048
HP:0031797	Clinical course	8694	DGAT1	OMIM:615863
HP:0031797	Clinical course	57017	COQ9	OMIM:614654
HP:0031797	Clinical course	57107	PDSS2	OMIM:614652
HP:0031797	Clinical course	54704	PDP1	OMIM:608782
HP:0031797	Clinical course	10525	HYOU1	OMIM:233600
HP:0031797	Clinical course	169792	GLIS3	OMIM:610199
HP:0031797	Clinical course	3033	HADH	OMIM:609975
HP:0031797	Clinical course	708	C1QBP	OMIM:617713
HP:0031797	Clinical course	4594	MMUT	OMIM:251000
HP:0031797	Clinical course	8471	IRS4	OMIM:301035
HP:0031797	Clinical course	3758	KCNJ1	OMIM:241200
HP:0031797	Clinical course	3762	KCNJ5	OMIM:613485
HP:0031797	Clinical course	5406	PNLIP	OMIM:614338
HP:0031797	Clinical course	7138	TNNT1	OMIM:605355
HP:0031797	Clinical course	326625	MMAB	OMIM:251110
HP:0031797	Clinical course	80270	HSD3B7	OMIM:607765
HP:0031797	Clinical course	11019	LIAS	OMIM:614462
HP:0031797	Clinical course	1103	CHAT	OMIM:254210
HP:0031797	Clinical course	94137	RP1L1	OMIM:618826
HP:0031797	Clinical course	7507	XPA	OMIM:278700
HP:0031797	Clinical course	200894	ARL13B	OMIM:612291
HP:0031797	Clinical course	6337	SCNN1A	OMIM:264350
HP:0031797	Clinical course	9076	CLDN1	OMIM:607626
HP:0031797	Clinical course	95	ACY1	OMIM:609924
HP:0031797	Clinical course	4047	LSS	OMIM:618840
HP:0031797	Clinical course	57731	SPTBN4	OMIM:617519
HP:0031797	Clinical course	18	ABAT	OMIM:613163
HP:0031797	Clinical course	83544	DNAL1	OMIM:614017
HP:0031797	Clinical course	51726	DNAJB11	OMIM:618061
HP:0031797	Clinical course	773	CACNA1A	OMIM:183086
HP:0031797	Clinical course	4287	ATXN3	OMIM:109150
HP:0031797	Clinical course	1144	CHRND	OMIM:616321
HP:0031797	Clinical course	5393	EXOSC9	OMIM:618065
HP:0031797	Clinical course	7415	VCP	OMIM:616687
HP:0031797	Clinical course	10059	DNM1L	OMIM:614388
HP:0031797	Clinical course	400916	CHCHD10	OMIM:615911
HP:0031797	Clinical course	5111	PCNA	OMIM:615919
HP:0031797	Clinical course	79581	SLC52A2	OMIM:614707
HP:0031797	Clinical course	8566	PDXK	OMIM:618511
HP:0031797	Clinical course	65993	MRPS34	OMIM:617664
HP:0031797	Clinical course	4141	MARS1	OMIM:615486
HP:0031797	Clinical course	8792	TNFRSF11A	OMIM:174810
HP:0031797	Clinical course	8792	TNFRSF11A	OMIM:602080
HP:0031797	Clinical course	56616	DIABLO	OMIM:614152
HP:0031797	Clinical course	5155	PDGFB	OMIM:615483
HP:0031797	Clinical course	5155	PDGFB	OMIM:213600
HP:0031797	Clinical course	8722	CTSF	OMIM:615362
HP:0031797	Clinical course	7273	TTN	OMIM:608807
HP:0031797	Clinical course	10528	NOP56	OMIM:614153
HP:0031797	Clinical course	790	CAD	OMIM:616457
HP:0031797	Clinical course	51112	TRAPPC12	OMIM:617669
HP:0031797	Clinical course	8526	DGKE	OMIM:615008
HP:0031797	Clinical course	57582	KCNT1	OMIM:614959
HP:0031797	Clinical course	26580	BSCL2	OMIM:615924
HP:0031797	Clinical course	51816	ADA2	OMIM:182410
HP:0031797	Clinical course	2273	FHL1	OMIM:300696
HP:0031797	Clinical course	4358	MPV17	OMIM:618400
HP:0031797	Clinical course	4358	MPV17	OMIM:256810
HP:0031797	Clinical course	7345	UCHL1	OMIM:615491
HP:0031797	Clinical course	5832	ALDH18A1	OMIM:616586
HP:0031797	Clinical course	64207	IRF2BPL	OMIM:618088
HP:0031797	Clinical course	7084	TK2	OMIM:609560
HP:0031797	Clinical course	8560	DEGS1	OMIM:618404
HP:0031797	Clinical course	6575	SLC20A2	OMIM:213600
HP:0031797	Clinical course	5159	PDGFRB	OMIM:213600
HP:0031797	Clinical course	7276	TTR	OMIM:105210
HP:0031797	Clinical course	10273	STUB1	OMIM:618093
HP:0031797	Clinical course	10273	STUB1	OMIM:615768
HP:0031797	Clinical course	215	ABCD1	OMIM:300100
HP:0031797	Clinical course	10715	CERS1	OMIM:616230
HP:0031797	Clinical course	84504	NKX6-2	OMIM:617560
HP:0031797	Clinical course	83636	C19orf12	OMIM:614298
HP:0031797	Clinical course	246243	RNASEH1	OMIM:616479
HP:0031797	Clinical course	11232	POLG2	OMIM:610131
HP:0031797	Clinical course	4338	MOCS2	OMIM:252160
HP:0031797	Clinical course	11160	ERLIN2	OMIM:611225
HP:0031797	Clinical course	2218	FKTN	OMIM:611588
HP:0031797	Clinical course	6905	TBCE	OMIM:617207
HP:0031797	Clinical course	10382	TUBB4A	OMIM:612438
HP:0031797	Clinical course	9896	FIG4	OMIM:611228
HP:0031797	Clinical course	144165	PRICKLE1	OMIM:612437
HP:0031797	Clinical course	9907	AP5Z1	OMIM:613647
HP:0031797	Clinical course	79152	FA2H	OMIM:612319
HP:0031797	Clinical course	113278	SLC52A3	OMIM:211530
HP:0031797	Clinical course	9711	RUBCN	OMIM:615705
HP:0031797	Clinical course	6908	TBP	OMIM:607136
HP:0031797	Clinical course	6908	TBP	OMIM:168600
HP:0031797	Clinical course	54345	SOX18	OMIM:137940
HP:0031797	Clinical course	9897	WASHC5	OMIM:603563
HP:0031797	Clinical course	2512	FTL	OMIM:606159
HP:0031797	Clinical course	5311	PKD2	OMIM:613095
HP:0031797	Clinical course	84879	MFSD2A	OMIM:616486
HP:0031797	Clinical course	8879	SGPL1	OMIM:617575
HP:0031797	Clinical course	11277	TREX1	OMIM:192315
HP:0031797	Clinical course	23259	DDHD2	OMIM:615033
HP:0031797	Clinical course	9255	AIMP1	OMIM:260600
HP:0031797	Clinical course	4744	NEFH	OMIM:616924
HP:0031797	Clinical course	8021	NUP214	OMIM:618426
HP:0031797	Clinical course	90624	LYRM7	OMIM:615838
HP:0031797	Clinical course	9990	SLC12A6	OMIM:620068
HP:0031797	Clinical course	9990	SLC12A6	OMIM:218000
HP:0031797	Clinical course	64837	KLC2	OMIM:609541
HP:0031797	Clinical course	6606	SMN1	OMIM:253400
HP:0031797	Clinical course	6607	SMN2	OMIM:253400
HP:0031797	Clinical course	10908	PNPLA6	OMIM:215470
HP:0031797	Clinical course	23503	ZFYVE26	OMIM:270700
HP:0031797	Clinical course	6305	SBF1	OMIM:615284
HP:0031797	Clinical course	1615	DARS1	OMIM:615281
HP:0031797	Clinical course	4669	NAGLU	OMIM:616491
HP:0031797	Clinical course	122961	ISCA2	OMIM:616370
HP:0031797	Clinical course	5428	POLG	OMIM:613662
HP:0031797	Clinical course	5428	POLG	OMIM:157640
HP:0031797	Clinical course	5428	POLG	OMIM:603041
HP:0031797	Clinical course	9409	PEX16	OMIM:614877
HP:0031797	Clinical course	9440	MED17	OMIM:613668
HP:0031797	Clinical course	25828	TXN2	OMIM:616811
HP:0031797	Clinical course	57462	MYORG	OMIM:618317
HP:0031797	Clinical course	10253	SPRY2	OMIM:616818
HP:0031797	Clinical course	7443	VRK1	OMIM:607596
HP:0031797	Clinical course	8106	PABPN1	OMIM:164300
HP:0031797	Clinical course	56652	TWNK	OMIM:271245
HP:0031797	Clinical course	56652	TWNK	OMIM:609286
HP:0031797	Clinical course	10280	SIGMAR1	OMIM:605726
HP:0031797	Clinical course	1690	COCH	OMIM:601369
HP:0031797	Clinical course	7369	UMOD	OMIM:162000
HP:0031797	Clinical course	8813	DPM1	OMIM:608799
HP:0031797	Clinical course	51651	PTRH2	OMIM:616263
HP:0031797	Clinical course	5604	MAP2K1	OMIM:155950
HP:0031797	Clinical course	22906	TRAK1	OMIM:618201
HP:0031797	Clinical course	57679	ALS2	OMIM:205100
HP:0031797	Clinical course	57679	ALS2	OMIM:607225
HP:0031797	Clinical course	125988	MICOS13	OMIM:618329
HP:0031797	Clinical course	3329	HSPD1	OMIM:605280
HP:0031797	Clinical course	55275	VPS53	OMIM:615851
HP:0031797	Clinical course	10133	OPTN	OMIM:613435
HP:0031797	Clinical course	6683	SPAST	OMIM:182601
HP:0031797	Clinical course	1384	CRAT	OMIM:617917
HP:0031797	Clinical course	57704	GBA2	OMIM:614409
HP:0031797	Clinical course	91574	MTRFR	OMIM:613559
HP:0031797	Clinical course	55679	LIMS2	OMIM:616827
HP:0031797	Clinical course	85021	REPS1	OMIM:617916
HP:0031797	Clinical course	51196	PLCE1	OMIM:610725
HP:0031797	Clinical course	3098	HK1	OMIM:605285
HP:0031797	Clinical course	81570	CLPB	OMIM:616271
HP:0031797	Clinical course	58497	PRUNE1	OMIM:617481
HP:0031797	Clinical course	5825	ABCD3	OMIM:616278
HP:0031797	Clinical course	79734	KCTD17	OMIM:616398
HP:0031797	Clinical course	51067	YARS2	OMIM:613561
HP:0031797	Clinical course	3658	IREB2	OMIM:618451
HP:0031797	Clinical course	51693	TRAPPC2L	OMIM:618331
HP:0031797	Clinical course	9276	COPB2	OMIM:617800
HP:0031797	Clinical course	2583	B4GALNT1	OMIM:609195
HP:0031797	Clinical course	7407	VARS1	OMIM:617802
HP:0031797	Clinical course	4000	LMNA	OMIM:613205
HP:0031797	Clinical course	4000	LMNA	OMIM:616516
HP:0031797	Clinical course	23064	SETX	OMIM:606002
HP:0031797	Clinical course	3798	KIF5A	OMIM:604187
HP:0031797	Clinical course	4976	OPA1	OMIM:210000
HP:0031797	Clinical course	4976	OPA1	OMIM:125250
HP:0031797	Clinical course	55703	POLR3B	OMIM:607694
HP:0031797	Clinical course	11128	POLR3A	OMIM:607694
HP:0031797	Clinical course	8518	ELP1	OMIM:223900
HP:0031797	Clinical course	3912	LAMB1	OMIM:615191
HP:0031797	Clinical course	84706	GPT2	OMIM:616281
HP:0031797	Clinical course	1291	COL6A1	OMIM:254090
HP:0031797	Clinical course	1292	COL6A2	OMIM:254090
HP:0031797	Clinical course	1292	COL6A2	OMIM:255600
HP:0031797	Clinical course	1293	COL6A3	OMIM:254090
HP:0031797	Clinical course	374291	NDUFS7	OMIM:618224
HP:0031797	Clinical course	23516	SLC39A14	OMIM:617013
HP:0031797	Clinical course	79876	UBA5	OMIM:617133
HP:0031797	Clinical course	9698	PUM1	OMIM:617931
HP:0031797	Clinical course	10309	CCNO	OMIM:615872
HP:0031797	Clinical course	132	ADK	OMIM:614300
HP:0031797	Clinical course	54832	VPS13C	OMIM:616840
HP:0031797	Clinical course	9414	TJP2	OMIM:615878
HP:0031797	Clinical course	4719	NDUFS1	OMIM:618226
HP:0031797	Clinical course	2778	GNAS	OMIM:166350
HP:0031797	Clinical course	57122	NUP107	OMIM:618348
HP:0031797	Clinical course	57122	NUP107	OMIM:616730
HP:0031797	Clinical course	4001	LMNB1	OMIM:169500
HP:0031797	Clinical course	27235	COQ2	OMIM:146500
HP:0031797	Clinical course	6442	SGCA	OMIM:608099
HP:0031797	Clinical course	123606	NIPA1	OMIM:600363
HP:0031797	Clinical course	6548	SLC9A1	OMIM:616291
HP:0031797	Clinical course	57465	TBC1D24	OMIM:220500
HP:0031797	Clinical course	57465	TBC1D24	OMIM:615338
HP:0031797	Clinical course	91942	NDUFAF2	OMIM:618233
HP:0031797	Clinical course	1436	CSF1R	OMIM:618476
HP:0031797	Clinical course	3714	JAG2	OMIM:619566
HP:0031797	Clinical course	92667	MGME1	OMIM:615084
HP:0031797	Clinical course	5859	QARS1	OMIM:615760
HP:0031797	Clinical course	63895	PIEZO2	OMIM:617146
HP:0031797	Clinical course	8878	SQSTM1	OMIM:617145
HP:0031797	Clinical course	8878	SQSTM1	OMIM:616437
HP:0031797	Clinical course	80347	COASY	OMIM:615643
HP:0031797	Clinical course	57505	AARS2	OMIM:615889
HP:0031797	Clinical course	1287	COL4A5	OMIM:301050
HP:0031797	Clinical course	79977	GRHL2	OMIM:608641
HP:0031797	Clinical course	154881	KCTD7	OMIM:611726
HP:0031797	Clinical course	23218	NBEAL2	OMIM:139090
HP:0031797	Clinical course	427	ASAH1	OMIM:159950
HP:0031797	Clinical course	427	ASAH1	OMIM:228000
HP:0031797	Clinical course	23005	MAPKBP1	OMIM:617271
HP:0031797	Clinical course	55250	ELP2	OMIM:617270
HP:0031797	Clinical course	55967	NDUFA12	OMIM:618244
HP:0031797	Clinical course	25929	GEMIN5	OMIM:619333
HP:0031797	Clinical course	4715	NDUFB9	OMIM:618245
HP:0031797	Clinical course	51473	DCDC2	OMIM:617394
HP:0031797	Clinical course	727676	SNORD118	OMIM:614561
HP:0031797	Clinical course	8867	SYNJ1	OMIM:615530
HP:0031797	Clinical course	29978	UBQLN2	OMIM:300857
HP:0031797	Clinical course	23345	SYNE1	OMIM:618484
HP:0031797	Clinical course	7019	TFAM	OMIM:617156
HP:0031797	Clinical course	3746	KCNC1	OMIM:616187
HP:0031797	Clinical course	9512	PMPCB	OMIM:617954
HP:0031797	Clinical course	2058	EPRS1	OMIM:617951
HP:0031797	Clinical course	10616	RBCK1	OMIM:615895
HP:0031797	Clinical course	291	SLC25A4	OMIM:609283
HP:0031797	Clinical course	7965	AIMP2	OMIM:618006
HP:0031797	Clinical course	54463	RETREG1	OMIM:613115
HP:0031797	Clinical course	7490	WT1	OMIM:256370
HP:0031797	Clinical course	259232	NALCN	OMIM:615419
HP:0031797	Clinical course	4361	MRE11	OMIM:604391
HP:0031797	Clinical course	9132	KCNQ4	OMIM:600101
HP:0031797	Clinical course	4982	TNFRSF11B	OMIM:239000
HP:0031797	Clinical course	51102	MECR	OMIM:617282
HP:0031797	Clinical course	9420	CYP7B1	OMIM:270800
HP:0031797	Clinical course	9757	KMT2B	OMIM:617284
HP:0031797	Clinical course	1814	DRD3	OMIM:190300
HP:0031797	Clinical course	4507	MTAP	OMIM:112250
HP:0031797	Clinical course	84896	ATAD1	OMIM:618011
HP:0031797	Clinical course	547	KIF1A	OMIM:614213
HP:0031797	Clinical course	547	KIF1A	OMIM:614255
HP:0031797	Clinical course	64423	INF2	OMIM:614455
HP:0031797	Clinical course	23065	EMC1	OMIM:616875
HP:0031797	Clinical course	80736	SLC44A4	OMIM:617606
HP:0031797	Clinical course	23312	DMXL2	OMIM:617605
HP:0031797	Clinical course	55697	VAC14	OMIM:617054
HP:0031797	Clinical course	56978	PRDM8	OMIM:616640
HP:0031797	Clinical course	29927	SEC61A1	OMIM:617056
HP:0031797	Clinical course	81689	ISCA1	OMIM:617613
HP:0031797	Clinical course	1285	COL4A3	OMIM:203780
HP:0031797	Clinical course	1285	COL4A3	OMIM:104200
HP:0031797	Clinical course	1286	COL4A4	OMIM:203780
HP:0031797	Clinical course	4337	MOCS1	OMIM:252150
HP:0031797	Clinical course	6531	SLC6A3	OMIM:613135
HP:0031797	Clinical course	3839	KPNA3	OMIM:620106
HP:0031797	Clinical course	56270	WDR45B	OMIM:617977
HP:0031797	Clinical course	1890	TYMP	OMIM:603041
HP:0031797	Clinical course	122553	TRAPPC6B	OMIM:617862
HP:0031797	Clinical course	7222	TRPC3	OMIM:616410
HP:0031797	Clinical course	10613	ERLIN1	OMIM:615681
HP:0031797	Clinical course	6253	RTN2	OMIM:604805
HP:0031797	Clinical course	9688	NUP93	OMIM:616892
HP:0031797	Clinical course	23230	VPS13A	OMIM:200150
HP:0031797	Clinical course	23287	AGTPBP1	OMIM:618276
HP:0031797	Clinical course	6786	STIM1	OMIM:185070
HP:0031797	Clinical course	9213	XPR1	OMIM:616413
HP:0031797	Clinical course	207	AKT1	OMIM:176920
HP:0031797	Clinical course	1786	DNMT1	OMIM:614116
HP:0031797	Clinical course	1786	DNMT1	OMIM:604121
HP:0031797	Clinical course	57038	RARS2	OMIM:611523
HP:0031797	Clinical course	2799	GNS	OMIM:252940
HP:0031797	Clinical course	80208	SPG11	OMIM:604360
HP:0031797	Clinical course	50964	SOST	OMIM:122860
HP:0031797	Clinical course	51062	ATL1	OMIM:613708
HP:0031797	Clinical course	3094	HINT1	OMIM:137200
HP:0031797	Clinical course	79934	COQ8B	OMIM:615573
HP:0031797	Clinical course	29920	PYCR2	OMIM:616420
HP:0031797	Clinical course	440	ASNS	OMIM:615574
HP:0031797	Clinical course	84823	LMNB2	OMIM:616540
HP:0031797	Clinical course	9197	SLC33A1	OMIM:614482
HP:0031797	Clinical course	200205	IBA57	OMIM:615330
HP:0031797	Clinical course	8575	PRKRA	OMIM:612067
HP:0031797	Clinical course	7515	XRCC1	OMIM:617633
HP:0031797	Clinical course	10939	AFG3L2	OMIM:614487
HP:0031797	Clinical course	55624	POMGNT1	OMIM:613157
HP:0031797	Clinical course	23250	ATP11A	OMIM:619810
HP:0031797	Clinical course	79784	MYH14	OMIM:614369
HP:0031797	Clinical course	23533	PIK3R5	OMIM:615217
HP:0031797	Clinical course	63916	ELMO2	OMIM:606893
HP:0031797	Clinical course	84153	RNASEH2C	OMIM:610329
HP:0031797	Clinical course	81494	CFHR5	OMIM:614809
HP:0031797	Clinical course	8086	AAAS	OMIM:231550
HP:0031797	Clinical course	4204	MECP2	OMIM:300260
HP:0031797	Clinical course	23279	NUP160	OMIM:618178
HP:0031797	Clinical course	84842	HPDL	OMIM:619026
HP:0031797	Clinical course	84842	HPDL	OMIM:619027
HP:0031797	Clinical course	56947	MFF	OMIM:617086
HP:0031797	Clinical course	118429	ANTXR2	OMIM:228600
HP:0031797	Clinical course	4093	SMAD9	OMIM:615342
HP:0031797	Clinical course	55331	ACER3	OMIM:617762
HP:0031797	Clinical course	79902	NUP85	OMIM:618176
HP:0031797	Clinical course	4643	MYO1E	OMIM:614131
HP:0031797	Clinical course	50484	RRM2B	OMIM:612075
HP:0031797	Clinical course	55746	NUP133	OMIM:618177
HP:0031797	Clinical course	80169	CTC1	OMIM:612199
HP:0031797	Clinical course	51763	INPP5K	OMIM:617404
HP:0031797	Clinical course	3777	KCNK3	OMIM:615344
HP:0031797	Clinical course	9131	AIFM1	OMIM:300816
HP:0031797	Clinical course	221927	BRAT1	OMIM:614498
HP:0031797	Clinical course	29110	TBK1	OMIM:616439
HP:0031797	Clinical course	10749	KIF1C	OMIM:611302
HP:0031797	Clinical course	9570	GOSR2	OMIM:614018
HP:0031797	Clinical course	2747	GLUD2	OMIM:168600
HP:0031797	Clinical course	126	ADH1C	OMIM:168600
HP:0031797	Clinical course	4137	MAPT	OMIM:168600
HP:0031797	Clinical course	2629	GBA1	OMIM:168600
HP:0031797	Clinical course	4929	NR4A2	OMIM:168600
HP:0031797	Clinical course	4576	MT-TT	OMIM:168600
HP:0031797	Clinical course	9627	SNCAIP	OMIM:168600
HP:0031797	Clinical course	6311	ATXN2	OMIM:168600
HP:0031797	Clinical course	6315	ATXN8OS	OMIM:168600
HP:0031797	Clinical course	27445	PCLO	OMIM:608027
HP:0031797	Clinical course	6622	SNCA	OMIM:168601
HP:0031797	Clinical course	8398	PLA2G6	OMIM:610217
HP:0031797	Clinical course	203859	ANO5	OMIM:611307
HP:0031797	Clinical course	50640	PNPLA8	OMIM:251950
HP:0031797	Clinical course	22909	FAN1	OMIM:614817
HP:0031797	Clinical course	23646	PLD3	OMIM:617770
HP:0031797	Clinical course	8323	FZD6	OMIM:161050
HP:0031797	Clinical course	126129	CPT1C	OMIM:616282
HP:0031797	Clinical course	4171	MCM2	OMIM:616968
HP:0031797	Clinical course	7003	TEAD1	OMIM:108985
HP:0031797	Clinical course	1184	CLCN5	OMIM:308990
HP:0031797	Clinical course	26011	TENM4	OMIM:616736
HP:0031797	Clinical course	90678	LRSAM1	OMIM:614436
HP:0031797	Clinical course	9829	DNAJC6	OMIM:615528
HP:0031797	Clinical course	122622	ADSS1	OMIM:617030
HP:0031797	Clinical course	54834	GDAP2	OMIM:618369
HP:0031797	Clinical course	9499	MYOT	OMIM:609200
HP:0031797	Clinical course	5582	PRKCG	OMIM:605361
HP:0031797	Clinical course	11315	PARK7	OMIM:606324
HP:0031797	Clinical course	2705	GJB1	OMIM:302800
HP:0031797	Clinical course	7453	WARS1	OMIM:617721
HP:0031797	Clinical course	5981	RFC1	OMIM:614575
HP:0031797	Clinical course	55157	DARS2	OMIM:611105
HP:0031797	Clinical course	1938	EEF2	OMIM:609306
HP:0031797	Clinical course	10717	AP4B1	OMIM:614066
HP:0031797	Clinical course	1639	DCTN1	OMIM:607641
HP:0031797	Clinical course	81	ACTN4	OMIM:603278
HP:0031797	Clinical course	3208	HPCA	OMIM:224500
HP:0031797	Clinical course	5375	PMP2	OMIM:618279
HP:0031797	Clinical course	57104	PNPLA2	OMIM:610717
HP:0031797	Clinical course	26092	TOR1AIP1	OMIM:617072
HP:0031797	Clinical course	339855	KY	OMIM:617114
HP:0031797	Clinical course	120892	LRRK2	OMIM:607060
HP:0031797	Clinical course	81545	FBXO38	OMIM:615575
HP:0031797	Clinical course	200403	VWA3B	OMIM:616948
HP:0031797	Clinical course	367	AR	OMIM:313200
HP:0031797	Clinical course	9987	HNRNPDL	OMIM:609115
HP:0031797	Clinical course	23435	TARDBP	OMIM:612069
HP:0031797	Clinical course	2896	GRN	OMIM:614706
HP:0031797	Clinical course	203228	C9orf72	OMIM:105550
HP:0031797	Clinical course	7957	EPM2A	OMIM:254780
HP:0031797	Clinical course	378884	NHLRC1	OMIM:254780
HP:0031797	Clinical course	950	SCARB2	OMIM:254900
HP:0031797	Clinical course	4868	NPHS1	OMIM:256300
HP:0031797	Clinical course	401474	SAMD12	OMIM:601068
HP:0031797	Clinical course	3211	HOXB1	OMIM:614744
HP:0031797	Clinical course	56910	STARD7	OMIM:607876
HP:0031797	Clinical course	3859	KRT12	OMIM:122100
HP:0031797	Clinical course	23562	CLDN14	OMIM:614035
HP:0031797	Clinical course	2294	FOXF1	OMIM:265380
HP:0031797	Clinical course	4716	NDUFB10	OMIM:619003
HP:0031797	Clinical course	23396	PIP5K1C	OMIM:611369
HP:0031797	Clinical course	27152	INTU	OMIM:617925
HP:0031797	Clinical course	2108	ETFA	OMIM:231680
HP:0031797	Clinical course	2109	ETFB	OMIM:231680
HP:0031797	Clinical course	2110	ETFDH	OMIM:231680
HP:0031797	Clinical course	8772	FADD	OMIM:613759
HP:0031797	Clinical course	3155	HMGCL	OMIM:246450
HP:0031797	Clinical course	22872	SEC31A	OMIM:618651
HP:0031797	Clinical course	5331	PLCB3	OMIM:618961
HP:0031797	Clinical course	26503	SLC17A5	OMIM:269920
HP:0031797	Clinical course	84833	ATP5MK	OMIM:618683
HP:0031797	Clinical course	29960	MRM2	OMIM:618567
HP:0031797	Clinical course	8200	GDF5	OMIM:200700
HP:0031797	Clinical course	9321	TRIP11	OMIM:200600
HP:0031797	Clinical course	1836	SLC26A2	OMIM:600972
HP:0031797	Clinical course	1836	SLC26A2	OMIM:256050
HP:0031797	Clinical course	153241	CEP120	OMIM:616300
HP:0031797	Clinical course	50814	NSDHL	OMIM:308050
HP:0031797	Clinical course	55005	RMND1	OMIM:614922
HP:0031797	Clinical course	284086	NEK8	OMIM:615415
HP:0031797	Clinical course	1063	CENPF	OMIM:243605
HP:0031797	Clinical course	55165	CEP55	OMIM:236500
HP:0031797	Clinical course	219844	HYLS1	OMIM:236680
HP:0031797	Clinical course	5745	PTH1R	OMIM:215045
HP:0031797	Clinical course	2317	FLNB	OMIM:108720
HP:0031797	Clinical course	5447	POR	ORPHA:95699
HP:0031797	Clinical course	157570	ESCO2	OMIM:268300
HP:0031797	Clinical course	10203	CALCRL	OMIM:618773
HP:0031797	Clinical course	249	ALPL	OMIM:241500
HP:0031797	Clinical course	5307	PITX1	OMIM:119800
HP:0031797	Clinical course	1301	COL11A1	OMIM:228520
HP:0031797	Clinical course	23426	GRIP1	OMIM:617667
HP:0031797	Clinical course	26227	PHGDH	OMIM:256520
HP:0031797	Clinical course	4352	MPL	ORPHA:71493
HP:0031797	Clinical course	7066	THPO	ORPHA:71493
HP:0031797	Clinical course	2215	FCGR3B	ORPHA:464370
HP:0031797	Clinical course	2022	ENG	OMIM:187300
HP:0031797	Clinical course	4256	MGP	OMIM:245150
HP:0031797	Clinical course	283677	REC114	OMIM:619176
HP:0031797	Clinical course	3043	HBB	ORPHA:2133
HP:0031797	Clinical course	462	SERPINC1	ORPHA:82
HP:0031797	Clinical course	7486	WRN	ORPHA:902
HP:0031797	Clinical course	274	BIN1	ORPHA:169189
HP:0031797	Clinical course	4618	MYF6	ORPHA:169189
HP:0031797	Clinical course	3209	HOXA13	ORPHA:2438
HP:0031797	Clinical course	5054	SERPINE1	ORPHA:465
HP:0031797	Clinical course	213	ALB	ORPHA:86816
HP:0031797	Clinical course	388015	RTL1	ORPHA:96334
HP:0031797	Clinical course	8788	DLK1	ORPHA:96334
HP:0031797	Clinical course	55384	MEG3	ORPHA:96334
HP:0031797	Clinical course	6006	RHCE	ORPHA:71275
HP:0031797	Clinical course	6007	RHD	ORPHA:71275
HP:0031797	Clinical course	1351	COX8A	OMIM:619059
HP:0031797	Clinical course	149371	EXOC8	OMIM:619076
HP:0031797	Clinical course	6304	SATB1	OMIM:619229
HP:0031797	Clinical course	3651	PDX1	OMIM:260370
HP:0031797	Clinical course	6134	RPL10	OMIM:300998
HP:0031797	Clinical course	10112	KIF20A	OMIM:619433
HP:0031797	Clinical course	55388	MCM10	OMIM:619313
HP:0031797	Clinical course	60529	ALX4	OMIM:613451
HP:0031797	Clinical course	72	ACTG2	OMIM:619431
HP:0031797	Clinical course	201595	STT3B	OMIM:615597
HP:0031797	Clinical course	5885	RAD21	OMIM:614701
HP:0031797	Clinical course	5396	PRRX1	OMIM:202650
HP:0031797	Clinical course	23363	OBSL1	OMIM:612921
HP:0031797	Clinical course	7681	MKRN3	OMIM:176270
HP:0031797	Clinical course	3653	IPW	OMIM:176270
HP:0031797	Clinical course	791114	PWRN1	OMIM:176270
HP:0031797	Clinical course	100033413	SNORD116-1	OMIM:176270
HP:0031797	Clinical course	145624	PWAR1	OMIM:176270
HP:0031797	Clinical course	23742	NPAP1	OMIM:176270
HP:0031797	Clinical course	338433	SNORD115-1	OMIM:176270
HP:0031797	Clinical course	117581	TWIST2	OMIM:200110
HP:0031797	Clinical course	9578	CDC42BPB	OMIM:619841
HP:0031797	Clinical course	1062	CENPE	OMIM:616051
HP:0031797	Clinical course	84466	MEGF10	OMIM:614399
HP:0031797	Clinical course	55033	FKBP14	OMIM:614557
HP:0031797	Clinical course	51259	TMEM216	OMIM:603194
HP:0031797	Clinical course	10683	DLL3	OMIM:277300
HP:0031797	Clinical course	145873	MESP2	OMIM:277300
HP:0031797	Clinical course	79068	FTO	OMIM:612938
HP:0031797	Clinical course	64175	P3H1	OMIM:610915
HP:0031797	Clinical course	1146	CHRNG	OMIM:265000
HP:0031797	Clinical course	11274	USP18	OMIM:617397
HP:0031797	Clinical course	10606	PAICS	OMIM:619859
HP:0031797	Clinical course	1147	CHUK	OMIM:613630
HP:0031797	Clinical course	64131	XYLT1	OMIM:615777
HP:0031797	Clinical course	6045	RNF2	OMIM:619460
HP:0031797	Clinical course	6557	SLC12A1	OMIM:601678
HP:0031797	Clinical course	80776	B9D2	OMIM:614175
HP:0031797	Clinical course	6885	MAP3K7	OMIM:157800
HP:0031797	Clinical course	8985	PLOD3	OMIM:612394
HP:0031797	Clinical course	55636	CHD7	OMIM:214800
HP:0031797	Clinical course	51241	COX16	OMIM:619355
HP:0031797	Clinical course	9851	KIAA0753	OMIM:619479
HP:0031797	Clinical course	4629	MYH11	OMIM:619351
HP:0031797	Clinical course	23443	SLC35A3	OMIM:615553
HP:0031797	Clinical course	3800	KIF5C	OMIM:615282
HP:0031797	Clinical course	25802	LMOD1	OMIM:619362
HP:0031797	Clinical course	10293	TRAIP	OMIM:616777
HP:0031797	Clinical course	163175	LGI4	OMIM:617468
HP:0031797	Clinical course	5500	PPP1CB	OMIM:617506
HP:0031797	Clinical course	23169	SLC35D1	OMIM:269250
HP:0031797	Clinical course	6663	SOX10	OMIM:609136
HP:0031797	Clinical course	3930	LBR	OMIM:215140
HP:0031797	Clinical course	23007	PLCH1	OMIM:619895
HP:0031797	Clinical course	374654	KIF7	OMIM:614120
HP:0031797	Clinical course	2193	FARSA	OMIM:619013
HP:0031797	Clinical course	10661	KLF1	OMIM:613673
HP:0031797	Clinical course	2146	EZH2	OMIM:277590
HP:0031797	Clinical course	5557	PRIM1	OMIM:620005
HP:0031797	Clinical course	7473	WNT3	OMIM:273395
HP:0031797	Clinical course	7546	ZIC2	OMIM:609637
HP:0031797	Clinical course	51626	DYNC2LI1	OMIM:617088
HP:0031797	Clinical course	54903	MKS1	OMIM:617121
HP:0031797	Clinical course	54101	RIPK4	OMIM:263650
HP:0031797	Clinical course	6654	SOS1	OMIM:610733
HP:0031797	Clinical course	8085	KMT2D	OMIM:147920
HP:0031797	Clinical course	7403	KDM6A	OMIM:147920
HP:0031797	Clinical course	282996	RBM20	OMIM:613172
HP:0031797	Clinical course	125150	ZSWIM7	OMIM:619831
HP:0031797	Clinical course	151648	SGO1	OMIM:616201
HP:0031797	Clinical course	2153	F5	OMIM:614389
HP:0031797	Clinical course	22880	MORC2	OMIM:616688
HP:0031797	Clinical course	144132	DNHD1	OMIM:619712
HP:0031797	Clinical course	8291	DYSF	OMIM:253601
HP:0031797	Clinical course	8291	DYSF	OMIM:606768
HP:0031797	Clinical course	148738	HJV	OMIM:602390
HP:0031797	Clinical course	4867	NPHP1	OMIM:266900
HP:0031797	Clinical course	308	ANXA5	OMIM:614391
HP:0031797	Clinical course	55689	YEATS2	OMIM:615127
HP:0031797	Clinical course	57545	CC2D2A	OMIM:619845
HP:0031797	Clinical course	83959	SLC4A11	OMIM:217400
HP:0031797	Clinical course	146057	TTBK2	OMIM:604432
HP:0031797	Clinical course	10388	SYCP2	OMIM:258150
HP:0031797	Clinical course	8632	DNAH17	OMIM:618643
HP:0031797	Clinical course	23370	ARHGEF18	OMIM:617433
HP:0031797	Clinical course	63976	PRDM16	OMIM:615373
HP:0031797	Clinical course	30813	VSX1	OMIM:148300
HP:0031797	Clinical course	2645	GCK	OMIM:602485
HP:0031797	Clinical course	6926	TBX3	OMIM:181450
HP:0031797	Clinical course	10935	PRDX3	OMIM:619862
HP:0031797	Clinical course	84173	ELMOD3	OMIM:619500
HP:0031797	Clinical course	55526	DHTKD1	OMIM:615025
HP:0031797	Clinical course	595	CCND1	OMIM:193300
HP:0031797	Clinical course	9529	BAG5	OMIM:619747
HP:0031797	Clinical course	55012	PPP2R3C	OMIM:618420
HP:0031797	Clinical course	63982	ANO3	OMIM:615034
HP:0031797	Clinical course	1763	DNA2	OMIM:615156
HP:0031797	Clinical course	4607	MYBPC3	OMIM:615396
HP:0031797	Clinical course	199223	TTC21A	OMIM:618429
HP:0031797	Clinical course	89869	PLCZ1	OMIM:617214
HP:0031797	Clinical course	54456	MOV10L1	OMIM:619878
HP:0031797	Clinical course	55823	VPS11	OMIM:619637
HP:0031797	Clinical course	9049	AIP	OMIM:102200
HP:0031797	Clinical course	79188	TMEM43	OMIM:604400
HP:0031797	Clinical course	150365	MEI1	OMIM:618431
HP:0031797	Clinical course	431705	ASTL	OMIM:619643
HP:0031797	Clinical course	7075	TIE1	OMIM:619401
HP:0031797	Clinical course	154197	PNLDC1	OMIM:619528
HP:0031797	Clinical course	145645	TERB2	OMIM:619645
HP:0031797	Clinical course	283847	TERB1	OMIM:619646
HP:0031797	Clinical course	83723	TLCD3B	OMIM:619531
HP:0031797	Clinical course	55779	CFAP44	OMIM:617593
HP:0031797	Clinical course	80217	CFAP43	OMIM:617592
HP:0031797	Clinical course	56983	POGLUT1	OMIM:617232
HP:0031797	Clinical course	7867	MAPKAPK3	OMIM:617111
HP:0031797	Clinical course	6578	SLCO2A1	OMIM:167100
HP:0031797	Clinical course	6578	SLCO2A1	OMIM:614441
HP:0031797	Clinical course	93953	GCNA	OMIM:301077
HP:0031797	Clinical course	54443	ANLN	OMIM:616032
HP:0031797	Clinical course	353116	RILPL1	OMIM:619790
HP:0031797	Clinical course	199713	NLRP7	OMIM:231090
HP:0031797	Clinical course	1730	DIAPH2	OMIM:300511
HP:0031797	Clinical course	84074	QRICH2	OMIM:618341
HP:0031797	Clinical course	335	APOA1	OMIM:618463
HP:0031797	Clinical course	11055	ZPBP	OMIM:619799
HP:0031797	Clinical course	871	SERPINH1	OMIM:610504
HP:0031797	Clinical course	10049	DNAJB6	OMIM:603511
HP:0031797	Clinical course	317761	C14orf39	OMIM:619202
HP:0031797	Clinical course	84909	AOPEP	OMIM:619565
HP:0031797	Clinical course	6340	SCNN1G	OMIM:618114
HP:0031797	Clinical course	402381	SOHLH1	OMIM:618115
HP:0031797	Clinical course	122402	TDRD9	OMIM:618110
HP:0031797	Clinical course	140801	RPL10L	OMIM:619689
HP:0031797	Clinical course	286151	FBXO43	OMIM:619696
HP:0031797	Clinical course	84061	MAGT1	OMIM:300853
HP:0031797	Clinical course	63910	SLC17A9	OMIM:616063
HP:0031797	Clinical course	71	ACTG1	OMIM:604717
HP:0031797	Clinical course	5318	PKP2	OMIM:609040
HP:0031797	Clinical course	4864	NPC1	OMIM:257220
HP:0031797	Clinical course	4635	MYL4	OMIM:617280
HP:0031797	Clinical course	6795	AURKC	OMIM:243060
HP:0031797	Clinical course	2661	GDF9	OMIM:618014
HP:0031797	Clinical course	10149	ADGRG2	OMIM:300985
HP:0031797	Clinical course	80173	IFT74	OMIM:619585
HP:0031797	Clinical course	7225	TRPC6	OMIM:603965
HP:0031797	Clinical course	8468	FKBP6	OMIM:620103
HP:0031797	Clinical course	2335	FN1	OMIM:601894
HP:0031797	Clinical course	1412	CRYBA2	OMIM:115900
HP:0031797	Clinical course	140732	SUN5	OMIM:617187
HP:0031797	Clinical course	7078	TIMP3	OMIM:136900
HP:0031797	Clinical course	144406	CFAP251	OMIM:618152
HP:0031797	Clinical course	79983	POF1B	OMIM:300604
HP:0031797	Clinical course	401024	FSIP2	OMIM:618153
HP:0031797	Clinical course	55145	THAP1	OMIM:602629
HP:0031797	Clinical course	54800	KLHL24	OMIM:620236
HP:0031797	Clinical course	6508	SLC4A3	OMIM:620231
HP:0031797	Clinical course	81624	DIAPH3	OMIM:609129
HP:0031797	Clinical course	375307	CATIP	OMIM:619379
HP:0031797	Clinical course	85358	SHANK3	OMIM:613950
HP:0031797	Clinical course	283417	DPY19L2	OMIM:613958
HP:0031797	Clinical course	1371	CPOX	OMIM:121300
HP:0031797	Clinical course	200162	SPAG17	OMIM:619380
HP:0031797	Clinical course	7516	XRCC2	OMIM:619146
HP:0031797	Clinical course	2034	EPAS1	OMIM:611783
HP:0031797	Clinical course	117155	CATSPER2	OMIM:612997
HP:0031797	Clinical course	161497	STRC	OMIM:612997
HP:0031797	Clinical course	117144	CATSPER1	OMIM:612997
HP:0031797	Clinical course	124404	SEPTIN12	OMIM:614822
HP:0031797	Clinical course	24148	PRPF6	OMIM:613983
HP:0031797	Clinical course	9128	PRPF4	OMIM:615922
HP:0031797	Clinical course	50940	PDE11A	OMIM:610475
HP:0031797	Clinical course	6521	SLC4A1	OMIM:612653
HP:0031797	Clinical course	5498	PPOX	OMIM:176200
HP:0031797	Clinical course	3077	HFE	OMIM:176200
HP:0031797	Clinical course	678	ZFP36L2	OMIM:620154
HP:0031797	Clinical course	57697	FANCM	OMIM:618086
HP:0031797	Clinical course	22954	TRIM32	OMIM:254110
HP:0031797	Clinical course	57158	JPH2	OMIM:613873
HP:0031797	Clinical course	5346	PLIN1	OMIM:613877
HP:0031797	Clinical course	5573	PRKAR1A	OMIM:610489
HP:0031797	Clinical course	80726	IQCN	OMIM:620170
HP:0031797	Clinical course	6691	SPINK2	OMIM:618091
HP:0031797	Clinical course	675	BRCA2	OMIM:612555
HP:0031797	Clinical course	57055	DAZ2	OMIM:415000
HP:0031797	Clinical course	5940	RBMY1A1	OMIM:415000
HP:0031797	Clinical course	9082	XKRY	OMIM:415000
HP:0031797	Clinical course	57054	DAZ3	OMIM:415000
HP:0031797	Clinical course	1617	DAZ1	OMIM:415000
HP:0031797	Clinical course	8284	KDM5D	OMIM:415000
HP:0031797	Clinical course	442862	PRY2	OMIM:415000
HP:0031797	Clinical course	9081	PRY	OMIM:415000
HP:0031797	Clinical course	140032	RPS4Y2	OMIM:415000
HP:0031797	Clinical course	9426	CDY2A	OMIM:415000
HP:0031797	Clinical course	9083	BPY2	OMIM:415000
HP:0031797	Clinical course	86614	HSFY1	OMIM:415000
HP:0031797	Clinical course	9084	VCY	OMIM:415000
HP:0031797	Clinical course	8287	USP9Y	OMIM:415000
HP:0031797	Clinical course	9085	CDY1	OMIM:415000
HP:0031797	Clinical course	8653	DDX3Y	OMIM:415000
HP:0031797	Clinical course	84138	SLC7A6OS	OMIM:619191
HP:0031797	Clinical course	4438	MSH4	OMIM:108420
HP:0031797	Clinical course	4438	MSH4	OMIM:619938
HP:0031797	Clinical course	56159	TEX11	OMIM:309120
HP:0031797	Clinical course	2908	NR3C1	OMIM:615962
HP:0031797	Clinical course	6875	TAF4B	OMIM:615841
HP:0031797	Clinical course	84225	ZMYND15	OMIM:615842
HP:0031797	Clinical course	164045	HFM1	OMIM:615724
HP:0031797	Clinical course	10734	STAG3	OMIM:615723
HP:0031797	Clinical course	2488	FSHB	OMIM:229070
HP:0031797	Clinical course	157855	KCNU1	OMIM:620196
HP:0031797	Clinical course	91057	CCDC34	OMIM:620084
HP:0031797	Clinical course	219736	STOX1	OMIM:609404
HP:0031797	Clinical course	3300	DNAJB2	OMIM:614881
HP:0031797	Clinical course	10002	NR2E3	OMIM:611131
HP:0031797	Clinical course	57817	HAMP	OMIM:613313
HP:0031797	Clinical course	26353	HSPB8	OMIM:608673
HP:0031797	Clinical course	50511	SYCP3	OMIM:270960
HP:0031797	Clinical course	80331	DNAJC5	OMIM:162350
HP:0031797	Clinical course	3991	LIPE	OMIM:615980
HP:0031797	Clinical course	64788	LMF1	OMIM:246650
HP:0031797	Clinical course	93426	SYCE1	OMIM:616950
HP:0031797	Clinical course	3371	TNC	OMIM:615629
HP:0031797	Clinical course	25923	ATL3	OMIM:615632
HP:0031797	Clinical course	23600	AMACR	OMIM:614307
HP:0031797	Clinical course	1837	DTNA	OMIM:604169
HP:0031797	Clinical course	83552	MFRP	OMIM:611040
HP:0031797	Clinical course	56155	TEX14	OMIM:617707
HP:0031797	Clinical course	254528	MEIOB	OMIM:617706
HP:0031797	Clinical course	128338	DRAM2	OMIM:616502
HP:0031797	Clinical course	7784	ZP3	OMIM:617712
HP:0031797	Clinical course	22917	ZP1	OMIM:615774
HP:0031797	Clinical course	23400	ATP13A2	OMIM:606693
HP:0031797	Clinical course	80705	TSGA10	OMIM:617961
HP:0031797	Clinical course	56154	TEX15	OMIM:617960
HP:0031797	Clinical course	122481	AK7	OMIM:617965
HP:0031797	Clinical course	88	ACTN2	OMIM:612158
HP:0031797	Clinical course	4771	NF2	OMIM:101000
HP:0031797	Clinical course	10755	GIPC1	OMIM:618940
HP:0031797	Clinical course	5618	PRLR	OMIM:615555
HP:0031797	Clinical course	23568	ARL2BP	OMIM:615434
HP:0031797	Clinical course	8988	HSPB3	OMIM:613376
HP:0031797	Clinical course	640	BLK	OMIM:613375
HP:0031797	Clinical course	2548	GAA	OMIM:232300
HP:0031797	Clinical course	5468	PPARG	OMIM:604367
HP:0031797	Clinical course	1056	CEL	OMIM:609812
HP:0031797	Clinical course	84660	CCDC62	OMIM:619803
HP:0031797	Clinical course	197135	PATL2	OMIM:617743
HP:0031797	Clinical course	151254	C2CD6	OMIM:619805
HP:0031797	Clinical course	57570	TRMT5	OMIM:616539
HP:0031797	Clinical course	494551	WEE2	OMIM:617996
HP:0031797	Clinical course	4439	MSH5	OMIM:619937
HP:0031797	Clinical course	116369	SLC26A8	OMIM:606766
HP:0031797	Clinical course	4340	MOG	OMIM:614250
HP:0031797	Clinical course	26249	KLHL3	OMIM:614495
HP:0031797	Clinical course	7305	TYROBP	OMIM:221770
HP:0031797	Clinical course	10654	PMVK	OMIM:175800
HP:0031797	Clinical course	199720	GGN	OMIM:619826
HP:0031797	Clinical course	676	BRDT	OMIM:617644
HP:0031797	Clinical course	158401	SHOC1	OMIM:619949
HP:0031797	Clinical course	5161	PDHA2	OMIM:619828
HP:0031797	Clinical course	64170	CARD9	OMIM:212050
HP:0031797	Clinical course	5184	PEPD	OMIM:170100
HP:0031797	Clinical course	4790	NFKB1	OMIM:616576
HP:0031797	Clinical course	56259	CTNNBL1	OMIM:619846
HP:0031797	Clinical course	81846	SBF2	OMIM:604563
HP:0031797	Clinical course	6772	STAT1	OMIM:614162
HP:0031797	Clinical course	6772	STAT1	OMIM:614892
HP:0031797	Clinical course	1280	COL2A1	OMIM:616583
HP:0031797	Clinical course	84146	ZNF644	OMIM:614167
HP:0031797	Clinical course	3665	IRF7	OMIM:616345
HP:0031797	Clinical course	51109	RDH11	OMIM:616108
HP:0031797	Clinical course	1594	CYP27B1	OMIM:264700
HP:0031797	Clinical course	80739	MPIG6B	OMIM:617441
HP:0031797	Clinical course	23086	EXPH5	OMIM:615028
HP:0031797	Clinical course	51702	PADI3	OMIM:191480
HP:0031797	Clinical course	11081	KERA	OMIM:217300
HP:0031797	Clinical course	5146	PDE6C	OMIM:613093
HP:0031797	Clinical course	9895	TECPR2	OMIM:615031
HP:0031797	Clinical course	1770	DNAH9	OMIM:618300
HP:0031797	Clinical course	3590	IL11RA	OMIM:614188
HP:0031797	Clinical course	2162	F13A1	OMIM:188050
HP:0031797	Clinical course	2147	F2	OMIM:188050
HP:0031797	Clinical course	3026	HABP2	OMIM:188050
HP:0031797	Clinical course	4524	MTHFR	OMIM:188050
HP:0031797	Clinical course	399	RHOH	OMIM:618307
HP:0031797	Clinical course	6262	RYR2	OMIM:604772
HP:0031797	Clinical course	845	CASQ2	OMIM:604772
HP:0031797	Clinical course	845	CASQ2	OMIM:611938
HP:0031797	Clinical course	6101	RP1	OMIM:180100
HP:0031797	Clinical course	144811	LACC1	OMIM:618795
HP:0031797	Clinical course	3579	CXCR2	OMIM:619407
HP:0031797	Clinical course	3373	HYAL1	OMIM:601492
HP:0031797	Clinical course	487	ATP2A1	OMIM:601003
HP:0031797	Clinical course	5966	REL	OMIM:619652
HP:0031797	Clinical course	326	AIRE	OMIM:240300
HP:0031797	Clinical course	197258	FCSK	OMIM:618324
HP:0031797	Clinical course	2694	CBLIF	OMIM:261000
HP:0031797	Clinical course	345193	LRIT3	OMIM:615058
HP:0031797	Clinical course	84131	CEP78	OMIM:617236
HP:0031797	Clinical course	2055	CLN8	OMIM:600143
HP:0031797	Clinical course	3508	IGHMBP2	OMIM:616155
HP:0031797	Clinical course	10459	MAD2L2	OMIM:617243
HP:0031797	Clinical course	212	ALAS2	OMIM:300751
HP:0031797	Clinical course	212	ALAS2	OMIM:300752
HP:0031797	Clinical course	6448	SGSH	OMIM:252900
HP:0031797	Clinical course	4175	MCM6	OMIM:223100
HP:0031797	Clinical course	7062	TCHH	OMIM:617252
HP:0031797	Clinical course	9842	PLEKHM1	OMIM:618107
HP:0031797	Clinical course	10397	NDRG1	OMIM:601455
HP:0031797	Clinical course	55243	KIRREL1	OMIM:619201
HP:0031797	Clinical course	81790	RNF170	OMIM:619686
HP:0031797	Clinical course	745	MYRF	OMIM:618113
HP:0031797	Clinical course	55182	RNF220	OMIM:619688
HP:0031797	Clinical course	518	ATP5MC3	OMIM:619681
HP:0031797	Clinical course	8492	PRSS12	OMIM:249500
HP:0031797	Clinical course	2784	GNB3	OMIM:617024
HP:0031797	Clinical course	331	XIAP	OMIM:308240
HP:0031797	Clinical course	4068	SH2D1A	OMIM:308240
HP:0031797	Clinical course	8888	MCM3AP	OMIM:618124
HP:0031797	Clinical course	153642	ARSK	OMIM:619698
HP:0031797	Clinical course	513	ATP5F1D	OMIM:618120
HP:0031797	Clinical course	64856	VWA1	OMIM:619216
HP:0031797	Clinical course	2010	EMD	OMIM:310300
HP:0031797	Clinical course	7401	CLRN1	OMIM:276902
HP:0031797	Clinical course	5611	DNAJC3	OMIM:616192
HP:0031797	Clinical course	55340	GIMAP5	OMIM:619463
HP:0031797	Clinical course	3908	LAMA2	OMIM:618138
HP:0031797	Clinical course	65260	COA7	OMIM:618387
HP:0031797	Clinical course	10205	MPZL2	OMIM:618145
HP:0031797	Clinical course	2155	F7	OMIM:227500
HP:0031797	Clinical course	134218	DNAJC21	OMIM:617052
HP:0031797	Clinical course	64849	SLC13A3	OMIM:618384
HP:0031797	Clinical course	4070	TACSTD2	OMIM:204870
HP:0031797	Clinical course	2690	GHR	OMIM:262500
HP:0031797	Clinical course	643418	LIPN	OMIM:613943
HP:0031797	Clinical course	4773	NFATC2	OMIM:620232
HP:0031797	Clinical course	60386	SLC25A19	OMIM:613710
HP:0031797	Clinical course	6010	RHO	OMIM:610445
HP:0031797	Clinical course	6010	RHO	OMIM:613731
HP:0031797	Clinical course	1073	CFL2	OMIM:610687
HP:0031797	Clinical course	60506	NYX	OMIM:310500
HP:0031797	Clinical course	875	CBS	OMIM:236200
HP:0031797	Clinical course	124093	CCDC78	OMIM:614807
HP:0031797	Clinical course	54936	ADPRS	OMIM:618170
HP:0031797	Clinical course	23500	DAAM2	OMIM:619263
HP:0031797	Clinical course	284361	EMC10	OMIM:619264
HP:0031797	Clinical course	25793	FBXO7	OMIM:260300
HP:0031797	Clinical course	8910	SGCE	OMIM:159900
HP:0031797	Clinical course	4689	NCF4	OMIM:613960
HP:0031797	Clinical course	5339	PLEC	OMIM:613723
HP:0031797	Clinical course	5339	PLEC	OMIM:616487
HP:0031797	Clinical course	1584	CYP11B1	OMIM:103900
HP:0031797	Clinical course	1308	COL17A1	OMIM:122400
HP:0031797	Clinical course	7424	VEGFC	OMIM:615907
HP:0031797	Clinical course	79083	MLPH	OMIM:609227
HP:0031797	Clinical course	10461	MERTK	OMIM:613862
HP:0031797	Clinical course	1135	CHRNA2	OMIM:610353
HP:0031797	Clinical course	54476	RNF216	OMIM:212840
HP:0031797	Clinical course	25778	DSTYK	OMIM:270750
HP:0031797	Clinical course	2483	FRG1	OMIM:158900
HP:0031797	Clinical course	6452	SH3BP2	OMIM:118400
HP:0031797	Clinical course	64324	NSD1	OMIM:117550
HP:0031797	Clinical course	3952	LEP	OMIM:614962
HP:0031797	Clinical course	353	APRT	OMIM:614723
HP:0031797	Clinical course	6794	STK11	OMIM:175200
HP:0031797	Clinical course	1509	CTSD	OMIM:610127
HP:0031797	Clinical course	80326	WNT10A	OMIM:257980
HP:0031797	Clinical course	10555	AGPAT2	OMIM:608594
HP:0031797	Clinical course	5313	PKLR	OMIM:266200
HP:0031797	Clinical course	1678	TIMM8A	OMIM:304700
HP:0031797	Clinical course	80856	LNPK	OMIM:618090
HP:0031797	Clinical course	7374	UNG	OMIM:608106
HP:0031797	Clinical course	633	BGN	OMIM:300106
HP:0031797	Clinical course	1832	DSP	OMIM:615821
HP:0031797	Clinical course	3425	IDUA	OMIM:607015
HP:0031797	Clinical course	4952	OCRL	OMIM:300555
HP:0031797	Clinical course	3035	HARS1	OMIM:614504
HP:0031797	Clinical course	643226	GRXCR2	OMIM:615837
HP:0031797	Clinical course	80704	SLC19A3	OMIM:607483
HP:0031797	Clinical course	23175	LPIN1	OMIM:268200
HP:0031797	Clinical course	4784	NFIX	OMIM:614753
HP:0031797	Clinical course	85452	CFAP74	OMIM:620197
HP:0031797	Clinical course	8242	KDM5C	OMIM:300534
HP:0031797	Clinical course	1374	CPT1A	OMIM:255120
HP:0031797	Clinical course	4942	OAT	OMIM:258870
HP:0031797	Clinical course	23479	ISCU	OMIM:255125
HP:0031797	Clinical course	51308	REEP2	OMIM:615625
HP:0031797	Clinical course	144245	ALG10B	OMIM:613688
HP:0031797	Clinical course	3757	KCNH2	OMIM:613688
HP:0031797	Clinical course	6664	SOX11	OMIM:615866
HP:0031797	Clinical course	4054	LTBP3	OMIM:617809
HP:0031797	Clinical course	80184	CEP290	OMIM:610189
HP:0031797	Clinical course	11133	KPTN	OMIM:615637
HP:0031797	Clinical course	406960	MIR184	OMIM:614303
HP:0031797	Clinical course	4487	MSX1	OMIM:106600
HP:0031797	Clinical course	546	ATRX	OMIM:301040
HP:0031797	Clinical course	785	CACNB4	OMIM:607682
HP:0031797	Clinical course	57379	AICDA	OMIM:605258
HP:0031797	Clinical course	123016	TTC8	OMIM:613464
HP:0031797	Clinical course	10058	ABCB6	OMIM:615402
HP:0031797	Clinical course	84816	RTN4IP1	OMIM:616732
HP:0031797	Clinical course	84876	ORAI1	OMIM:615883
HP:0031797	Clinical course	123041	SLC24A4	OMIM:615887
HP:0031797	Clinical course	10235	RASGRP2	OMIM:615888
HP:0031797	Clinical course	90161	HS6ST2	OMIM:301025
HP:0031797	Clinical course	5631	PRPS1	OMIM:311070
HP:0031797	Clinical course	10560	SLC19A2	OMIM:249270
HP:0031797	Clinical course	116150	NUS1	OMIM:617831
HP:0031797	Clinical course	10342	TFG	OMIM:615658
HP:0031797	Clinical course	6638	SNRPN	OMIM:209850
HP:0031797	Clinical course	3848	KRT1	OMIM:607654
HP:0031797	Clinical course	10568	SLC34A2	OMIM:265100
HP:0031797	Clinical course	3702	ITK	OMIM:613011
HP:0031797	Clinical course	931	MS4A1	OMIM:613495
HP:0031797	Clinical course	131669	UROC1	OMIM:276880
HP:0031797	Clinical course	3514	IGKC	OMIM:614102
HP:0031797	Clinical course	80781	COL18A1	OMIM:267750
HP:0031797	Clinical course	23204	ARL6IP1	OMIM:615685
HP:0031797	Clinical course	50615	IL21R	OMIM:615207
HP:0031797	Clinical course	2259	FGF14	OMIM:193003
HP:0031797	Clinical course	9371	KIF3B	OMIM:618955
HP:0031797	Clinical course	10577	NPC2	OMIM:607625
HP:0031797	Clinical course	5422	POLA1	OMIM:301220
HP:0031797	Clinical course	24	ABCA4	OMIM:604116
HP:0031797	Clinical course	7991	TUSC3	OMIM:611093
HP:0031797	Clinical course	112752	IFT43	OMIM:617871
HP:0031797	Clinical course	57728	WDR19	OMIM:616307
HP:0031797	Clinical course	57728	WDR19	OMIM:614377
HP:0031797	Clinical course	10383	TUBB4B	OMIM:617879
HP:0031797	Clinical course	2182	ACSL4	OMIM:300387
HP:0031797	Clinical course	83452	RAB33B	OMIM:615222
HP:0031797	Clinical course	22948	CCT5	OMIM:256840
HP:0031797	Clinical course	64699	TMPRSS3	OMIM:601072
HP:0031797	Clinical course	4099	MAG	OMIM:616680
HP:0031797	Clinical course	253017	TECRL	OMIM:614021
HP:0031797	Clinical course	8029	CUBN	OMIM:261100
HP:0031797	Clinical course	60684	TRAPPC11	OMIM:615356
HP:0031797	Clinical course	5361	PLXNA1	OMIM:619955
HP:0031797	Clinical course	7552	ZNF711	OMIM:300803
HP:0031797	Clinical course	8842	PROM1	OMIM:612095
HP:0031797	Clinical course	375790	AGRN	OMIM:615120
HP:0031797	Clinical course	25959	KANK2	OMIM:617783
HP:0031797	Clinical course	92840	REEP6	OMIM:617304
HP:0031797	Clinical course	472	ATM	OMIM:208900
HP:0031797	Clinical course	54	ACP5	OMIM:607944
HP:0031797	Clinical course	80153	EDC3	OMIM:616460
HP:0031797	Clinical course	1298	COL9A2	OMIM:614284
HP:0031797	Clinical course	1298	COL9A2	OMIM:600204
HP:0031797	Clinical course	9364	RAB28	OMIM:615374
HP:0031797	Clinical course	56172	ANKH	OMIM:123000
HP:0031797	Clinical course	6445	SGCG	OMIM:253700
HP:0031797	Clinical course	55214	P3H2	OMIM:614292
HP:0031797	Clinical course	7466	WFS1	OMIM:614296
HP:0031797	Clinical course	7466	WFS1	OMIM:222300
HP:0031797	Clinical course	51271	UBAP1	OMIM:618418
HP:0031797	Clinical course	5950	RBP4	OMIM:615147
HP:0031797	Clinical course	10861	SLC26A1	OMIM:167030
HP:0031797	Clinical course	54840	APTX	OMIM:208920
HP:0031797	Clinical course	10594	PRPF8	OMIM:600059
HP:0031797	Clinical course	339983	NAT8L	OMIM:614063
HP:0031797	Clinical course	805	CALM2	OMIM:616249
HP:0031797	Clinical course	25981	DNAH1	OMIM:617577
HP:0031797	Clinical course	54440	SASH3	OMIM:301082
HP:0031797	Clinical course	1180	CLCN1	OMIM:255700
HP:0031797	Clinical course	1180	CLCN1	OMIM:160800
HP:0031797	Clinical course	79991	STN1	OMIM:617341
HP:0031797	Clinical course	84062	DTNBP1	OMIM:614076
HP:0031797	Clinical course	11261	CHP1	OMIM:618438
HP:0031797	Clinical course	540	ATP7B	OMIM:277900
HP:0031797	Clinical course	6925	TCF4	OMIM:610954
HP:0031797	Clinical course	2556	GABRA3	OMIM:301091
HP:0031797	Clinical course	11284	PNKP	OMIM:616267
HP:0031797	Clinical course	5213	PFKM	OMIM:232800
HP:0031797	Clinical course	6330	SCN4B	OMIM:611819
HP:0031797	Clinical course	2742	GLRA2	OMIM:301076
HP:0031797	Clinical course	8295	TRRAP	OMIM:618454
HP:0031797	Clinical course	389549	FEZF1	OMIM:616030
HP:0031797	Clinical course	3980	LIG3	OMIM:619780
HP:0031797	Clinical course	84695	LOXL3	OMIM:619781
HP:0031797	Clinical course	1337	COX6A1	OMIM:616039
HP:0031797	Clinical course	29127	RACGAP1	OMIM:619789
HP:0031797	Clinical course	23111	SPART	OMIM:275900
HP:0031797	Clinical course	2235	FECH	OMIM:177000
HP:0031797	Clinical course	26277	TINF2	OMIM:268130
HP:0031797	Clinical course	26277	TINF2	OMIM:613990
HP:0031797	Clinical course	79879	CCDC134	OMIM:619795
HP:0031797	Clinical course	53405	CLIC5	OMIM:616042
HP:0031797	Clinical course	127833	SYT2	OMIM:616040
HP:0031797	Clinical course	9785	DHX38	OMIM:618220
HP:0031797	Clinical course	1756	DMD	OMIM:310200
HP:0031797	Clinical course	203547	VMA21	OMIM:310440
HP:0031797	Clinical course	4179	CD46	OMIM:612922
HP:0031797	Clinical course	23102	TBC1D2B	OMIM:619323
HP:0031797	Clinical course	729920	CRPPA	OMIM:616052
HP:0031797	Clinical course	23586	RIGI	OMIM:616298
HP:0031797	Clinical course	2710	GK	OMIM:307030
HP:0031797	Clinical course	362	AQP5	OMIM:600231
HP:0031797	Clinical course	80224	NUBPL	OMIM:618242
HP:0031797	Clinical course	7169	TPM2	OMIM:609285
HP:0031797	Clinical course	6102	RP2	OMIM:312600
HP:0031797	Clinical course	444	ASPH	OMIM:601552
HP:0031797	Clinical course	55863	TMEM126B	OMIM:618250
HP:0031797	Clinical course	55814	BDP1	OMIM:618257
HP:0031797	Clinical course	2332	FMR1	OMIM:300624
HP:0031797	Clinical course	390594	KBTBD13	OMIM:609273
HP:0031797	Clinical course	1200	TPP1	OMIM:609270
HP:0031797	Clinical course	5158	PDE6B	OMIM:613801
HP:0031797	Clinical course	145226	RDH12	OMIM:612712
HP:0031797	Clinical course	28982	FLVCR1	OMIM:609033
HP:0031797	Clinical course	6338	SCNN1B	OMIM:177200
HP:0031797	Clinical course	1300	COL10A1	OMIM:156500
HP:0031797	Clinical course	10519	CIB1	OMIM:618267
HP:0031797	Clinical course	6424	SFRP4	OMIM:265900
HP:0031797	Clinical course	7068	THRB	OMIM:188570
HP:0031797	Clinical course	55229	PANK4	OMIM:619593
HP:0031797	Clinical course	2312	FLG	OMIM:146700
HP:0031797	Clinical course	8204	NRIP1	OMIM:618270
HP:0031797	Clinical course	2916	GRM6	OMIM:257270
HP:0031797	Clinical course	1278	COL1A2	OMIM:619120
HP:0031797	Clinical course	8701	DNAH11	OMIM:611884
HP:0031797	Clinical course	383	ARG1	OMIM:207800
HP:0031797	Clinical course	9187	SLC24A1	OMIM:613830
HP:0031797	Clinical course	84277	DNAJC30	OMIM:619382
HP:0031797	Clinical course	7388	UQCRH	OMIM:620137
HP:0031797	Clinical course	23224	SYNE2	OMIM:612999
HP:0031797	Clinical course	6584	SLC22A5	OMIM:212140
HP:0031797	Clinical course	2131	EXT1	OMIM:133700
HP:0031797	Clinical course	7109	TRAPPC10	OMIM:620027
HP:0031797	Clinical course	3291	HSD11B2	OMIM:218030
HP:0031797	Clinical course	49855	SCAPER	OMIM:618195
HP:0031797	Clinical course	221421	RSPH9	OMIM:612650
HP:0031797	Clinical course	121391	KRT74	OMIM:613981
HP:0031797	Clinical course	23431	AP4E1	OMIM:613744
HP:0031797	Clinical course	23431	AP4E1	OMIM:184450
HP:0031797	Clinical course	51324	SPG21	OMIM:248900
HP:0031797	Clinical course	51204	TACO1	OMIM:619052
HP:0031797	Clinical course	7827	NPHS2	OMIM:600995
HP:0031797	Clinical course	1137	CHRNA4	OMIM:600513
HP:0031797	Clinical course	340024	SLC6A19	OMIM:234500
HP:0031797	Clinical course	3911	LAMA5	OMIM:620049
HP:0031797	Clinical course	7187	TRAF3	OMIM:614849
HP:0031797	Clinical course	84334	COA8	OMIM:619061
HP:0031797	Clinical course	100303755	PET117	OMIM:619063
HP:0031797	Clinical course	26090	ABHD12	OMIM:612674
HP:0031797	Clinical course	148022	TICAM1	OMIM:614850
HP:0031797	Clinical course	2301	FOXE3	OMIM:610256
HP:0031797	Clinical course	338328	GPIHBP1	OMIM:615947
HP:0031797	Clinical course	121512	FGD4	OMIM:609311
HP:0031797	Clinical course	1576	CYP3A4	OMIM:619073
HP:0031797	Clinical course	1267	CNP	OMIM:619071
HP:0031797	Clinical course	83394	PITPNM3	OMIM:600977
HP:0031797	Clinical course	65109	UPF3B	OMIM:300676
HP:0031797	Clinical course	171019	ADAMTS19	OMIM:620067
HP:0031797	Clinical course	5192	PEX10	OMIM:614871
HP:0031797	Clinical course	57709	SLC7A14	OMIM:615725
HP:0031797	Clinical course	54862	CC2D1A	OMIM:608443
HP:0031797	Clinical course	6742	SSBP1	OMIM:165510
HP:0031797	Clinical course	29851	ICOS	OMIM:607594
HP:0031797	Clinical course	11152	WDR45	OMIM:300894
HP:0031797	Clinical course	11117	EMILIN1	OMIM:620080
HP:0031797	Clinical course	5122	PCSK1	OMIM:600955
HP:0031797	Clinical course	5194	PEX13	OMIM:614885
HP:0031797	Clinical course	9928	KIF14	OMIM:617914
HP:0031797	Clinical course	710	SERPING1	OMIM:106100
HP:0031797	Clinical course	54413	NLGN3	OMIM:300425
HP:0031797	Clinical course	10457	GPNMB	OMIM:617920
HP:0031797	Clinical course	23590	PDSS1	OMIM:614651
HP:0031797	Clinical course	22858	CILK1	OMIM:617924
HP:0031797	Clinical course	6307	MSMO1	OMIM:616834
HP:0031797	Clinical course	1261	CNGA3	OMIM:216900
HP:0031797	Clinical course	57094	CPA6	OMIM:614417
HP:0031797	Clinical course	865	CBFB	OMIM:620099
HP:0031797	Clinical course	54808	DYM	OMIM:607326
HP:0031797	Clinical course	147495	APCDD1	OMIM:605389
HP:0031797	Clinical course	1121	CHM	OMIM:303100
HP:0031797	Clinical course	631	BFSP1	OMIM:611391
HP:0031797	Clinical course	1776	DNASE1L3	OMIM:614420
HP:0031797	Clinical course	763	CA5A	OMIM:615751
HP:0031797	Clinical course	5148	PDE6G	OMIM:613582
HP:0031797	Clinical course	10758	TRAF3IP2	OMIM:615527
HP:0031797	Clinical course	4297	KMT2A	OMIM:605130
HP:0031797	Clinical course	8671	SLC4A4	OMIM:604278
HP:0031797	Clinical course	3643	INSR	OMIM:609968
HP:0031797	Clinical course	2072	ERCC4	OMIM:278760
HP:0031797	Clinical course	102	ADAM10	OMIM:615537
HP:0031797	Clinical course	2232	FDXR	OMIM:617717
HP:0031797	Clinical course	175	AGA	OMIM:208400
HP:0031797	Clinical course	93986	FOXP2	OMIM:602081
HP:0031797	Clinical course	51002	TPRKB	OMIM:617731
HP:0031797	Clinical course	255928	SYT14	OMIM:614229
HP:0031797	Clinical course	128178	EDARADD	OMIM:224900
HP:0031797	Clinical course	10913	EDAR	OMIM:224900
HP:0031797	Clinical course	629	CFB	OMIM:615561
HP:0031797	Clinical course	1314	COPA	OMIM:616414
HP:0031797	Clinical course	6569	SLC34A1	OMIM:613388
HP:0031797	Clinical course	57502	NLGN4X	OMIM:300495
HP:0031797	Clinical course	3920	LAMP2	OMIM:300257
HP:0031797	Clinical course	6529	SLC6A1	OMIM:616421
HP:0031797	Clinical course	4791	NFKB2	OMIM:615577
HP:0031797	Clinical course	8815	BANF1	OMIM:614008
HP:0031797	Clinical course	51422	PRKAG2	OMIM:194200
HP:0031797	Clinical course	7508	XPC	OMIM:278720
HP:0031797	Clinical course	846	CASR	OMIM:601198
HP:0031797	Clinical course	22978	NT5C2	OMIM:613162
HP:0031797	Clinical course	51776	MAP3K20	OMIM:617760
HP:0031797	Clinical course	10369	CACNG2	OMIM:614256
HP:0031797	Clinical course	285489	DOK7	OMIM:254300
HP:0031797	Clinical course	2582	GALE	OMIM:230350
HP:0031797	Clinical course	5265	SERPINA1	OMIM:613490
HP:0031797	Clinical course	2100	ESR2	OMIM:618187
HP:0031797	Clinical course	3972	LHB	OMIM:228300
HP:0031797	Clinical course	3630	INS	OMIM:125852
HP:0031797	Clinical course	10371	SEMA3A	OMIM:614897
HP:0031797	Clinical course	6640	SNTA1	OMIM:612955
HP:0031797	Clinical course	2624	GATA2	OMIM:614172
HP:0031797	Clinical course	116085	SLC22A12	OMIM:220150
HP:0031797	Clinical course	1593	CYP27A1	OMIM:213700
HP:0031797	Clinical course	859	CAV3	OMIM:611818
HP:0031797	Clinical course	5961	PRPH2	OMIM:608161
HP:0031797	Clinical course	4921	DDR2	OMIM:271665
HP:0031797	Clinical course	65992	DDRGK1	OMIM:602557
HP:0031797	Clinical course	3190	HNRNPK	OMIM:616580
HP:0031797	Clinical course	4709	NDUFB3	OMIM:618246
HP:0031797	Clinical course	100128927	ZBTB42	OMIM:616248
HP:0031797	Clinical course	55329	MNS1	OMIM:618948
HP:0031797	Clinical course	8854	ALDH1A2	OMIM:620025
HP:0031797	Clinical course	54361	WNT4	OMIM:611812
HP:0031797	Clinical course	701	BUB1B	OMIM:257300
HP:0031797	Clinical course	222663	SCUBE3	OMIM:619184
HP:0031797	Clinical course	80114	BICC1	OMIM:601331
HP:0031797	Clinical course	9871	SEC24D	OMIM:616294
HP:0031797	Clinical course	7156	TOP3A	OMIM:618097
HP:0031797	Clinical course	219854	TMEM218	OMIM:619562
HP:0031797	Clinical course	26281	FGF20	OMIM:615721
HP:0031797	Clinical course	56603	CYP26B1	OMIM:614416
HP:0031797	Clinical course	2752	GLUL	OMIM:610015
HP:0031797	Clinical course	1629	DBT	OMIM:248600
HP:0031797	Clinical course	593	BCKDHA	OMIM:248600
HP:0031797	Clinical course	594	BCKDHB	OMIM:248600
HP:0031797	Clinical course	135	ADORA2A	ORPHA:363549
HP:0031797	Clinical course	342035	GLDN	OMIM:617194
HP:0031797	Clinical course	54539	NDUFB11	OMIM:300952
HP:0031797	Clinical course	8506	CNTNAP1	OMIM:616286
HP:0031797	Clinical course	9631	NUP155	OMIM:615770
HP:0031797	Clinical course	55503	TRPV6	OMIM:618188
HP:0031797	Clinical course	5831	PYCR1	OMIM:612940
HP:0031797	Clinical course	8777	MPDZ	OMIM:615219
HP:0031797	Clinical course	6154	RPL26	OMIM:614900
HP:0031797	Clinical course	57211	ADGRG6	OMIM:616503
HP:0031797	Clinical course	9401	RECQL4	OMIM:218600
HP:0031797	Clinical course	7547	ZIC3	OMIM:314390
HP:0031797	Clinical course	6616	SNAP25	OMIM:616330
HP:0031797	Clinical course	29969	MDFIC	OMIM:620014
HP:0031797	Clinical course	9837	GINS1	OMIM:617827
HP:0031797	Clinical course	2271	FH	OMIM:606812
HP:0031797	Clinical course	3376	IARS1	OMIM:617093
HP:0031797	Clinical course	90993	CREB3L1	OMIM:616229
HP:0031797	Clinical course	64220	STRA6	OMIM:601186
HP:0031797	Clinical course	4927	NUP88	OMIM:618393
HP:0031797	Clinical course	3897	L1CAM	OMIM:304100
HP:0031797	Clinical course	11041	B4GAT1	OMIM:615287
HP:0031797	Clinical course	2674	GFRA1	OMIM:619887
HP:0031797	Clinical course	26123	TCTN3	OMIM:614815
HP:0031797	Clinical course	4713	NDUFB7	OMIM:620135
HP:0031797	Clinical course	79770	TXNDC15	OMIM:619879
HP:0031797	Clinical course	6862	TBXT	OMIM:615709
HP:0031797	Clinical course	168667	BMPER	OMIM:608022
HP:0031797	Clinical course	60	ACTB	ORPHA:79107
HP:0031797	Clinical course	27183	VPS4A	OMIM:619273
HP:0031797	Clinical course	10479	SLC9A6	ORPHA:85278
HP:0031797	Clinical course	1471	CST3	ORPHA:100008
HP:0031797	Clinical course	6804	STX1A	ORPHA:904
HP:0031797	Clinical course	7461	CLIP2	ORPHA:904
HP:0031797	Clinical course	5982	RFC2	ORPHA:904
HP:0031797	Clinical course	2969	GTF2I	ORPHA:904
HP:0031797	Clinical course	3984	LIMK1	ORPHA:904
HP:0031797	Clinical course	9569	GTF2IRD1	ORPHA:904
HP:0031797	Clinical course	155382	VPS37D	ORPHA:904
HP:0031797	Clinical course	155368	METTL27	ORPHA:904
HP:0031797	Clinical course	114049	BUD23	ORPHA:904
HP:0031797	Clinical course	7458	EIF4H	ORPHA:904
HP:0031797	Clinical course	84163	GTF2IRD2	ORPHA:904
HP:0031797	Clinical course	9275	BCL7B	ORPHA:904
HP:0031797	Clinical course	26608	TBL2	ORPHA:904
HP:0031797	Clinical course	653361	NCF1	ORPHA:904
HP:0031797	Clinical course	135886	TMEM270	ORPHA:904
HP:0031797	Clinical course	51085	MLXIPL	ORPHA:904
HP:0031797	Clinical course	9031	BAZ1B	ORPHA:904
HP:0031797	Clinical course	2006	ELN	ORPHA:904
HP:0031798	Elevated circulating apolipoprotein B concentration	4023	LPL	OMIM:144250
HP:0031799	Decreased circulating apolipoprotein A-I concentration	335	APOA1	OMIM:619836
HP:0031799	Decreased circulating apolipoprotein A-I concentration	19	ABCA1	OMIM:205400
HP:0005886	Aphalangy of the hands	9401	RECQL4	OMIM:218600
HP:0034237	Open neural tube defect	51684	SUFU	ORPHA:475
HP:0034237	Open neural tube defect	54806	AHI1	ORPHA:475
HP:0034237	Open neural tube defect	54806	AHI1	ORPHA:220493
HP:0034237	Open neural tube defect	153241	CEP120	ORPHA:475
HP:0034237	Open neural tube defect	153241	CEP120	ORPHA:220493
HP:0034237	Open neural tube defect	153241	CEP120	OMIM:616300
HP:0034237	Open neural tube defect	65250	CPLANE1	ORPHA:475
HP:0034237	Open neural tube defect	9731	CEP104	ORPHA:475
HP:0034237	Open neural tube defect	23247	KATNIP	ORPHA:475
HP:0034237	Open neural tube defect	95681	CEP41	ORPHA:475
HP:0034237	Open neural tube defect	95681	CEP41	ORPHA:220493
HP:0034237	Open neural tube defect	10464	PIBF1	ORPHA:475
HP:0034237	Open neural tube defect	80210	ARMC9	ORPHA:475
HP:0034237	Open neural tube defect	23116	TOGARAM1	ORPHA:475
HP:0034237	Open neural tube defect	25776	CBY1	ORPHA:475
HP:0034237	Open neural tube defect	403	ARL3	ORPHA:475
HP:0034237	Open neural tube defect	3769	KCNJ13	ORPHA:65
HP:0034237	Open neural tube defect	343035	RD3	ORPHA:65
HP:0034237	Open neural tube defect	145226	RDH12	ORPHA:65
HP:0034237	Open neural tube defect	1406	CRX	ORPHA:65
HP:0034237	Open neural tube defect	64802	NMNAT1	ORPHA:65
HP:0034237	Open neural tube defect	10383	TUBB4B	ORPHA:65
HP:0034237	Open neural tube defect	9742	IFT140	ORPHA:65
HP:0034237	Open neural tube defect	85015	USP45	ORPHA:65
HP:0034237	Open neural tube defect	6121	RPE65	ORPHA:65
HP:0034237	Open neural tube defect	23418	CRB1	ORPHA:65
HP:0034237	Open neural tube defect	5130	PCYT1A	ORPHA:65
HP:0034237	Open neural tube defect	9657	IQCB1	ORPHA:65
HP:0034237	Open neural tube defect	392255	GDF6	ORPHA:65
HP:0034237	Open neural tube defect	23746	AIPL1	ORPHA:65
HP:0034237	Open neural tube defect	3000	GUCY2D	ORPHA:65
HP:0034237	Open neural tube defect	9227	LRAT	ORPHA:65
HP:0034237	Open neural tube defect	55812	SPATA7	ORPHA:65
HP:0034237	Open neural tube defect	7287	TULP1	ORPHA:65
HP:0034237	Open neural tube defect	167691	LCA5	ORPHA:65
HP:0034237	Open neural tube defect	3614	IMPDH1	ORPHA:65
HP:0034237	Open neural tube defect	51524	TMEM138	OMIM:614465
HP:0034237	Open neural tube defect	51524	TMEM138	ORPHA:2318
HP:0034237	Open neural tube defect	57514	ARHGAP31	OMIM:100300
HP:0034237	Open neural tube defect	57514	ARHGAP31	ORPHA:974
HP:0034237	Open neural tube defect	2261	FGFR3	ORPHA:93274
HP:0034237	Open neural tube defect	84172	POLR1B	ORPHA:861
HP:0034237	Open neural tube defect	9533	POLR1C	ORPHA:861
HP:0034237	Open neural tube defect	51082	POLR1D	ORPHA:861
HP:0034237	Open neural tube defect	6949	TCOF1	ORPHA:861
HP:0034237	Open neural tube defect	4867	NPHP1	ORPHA:220497
HP:0034237	Open neural tube defect	3516	RBPJ	ORPHA:974
HP:0034237	Open neural tube defect	4851	NOTCH1	ORPHA:974
HP:0034237	Open neural tube defect	57572	DOCK6	ORPHA:974
HP:0034237	Open neural tube defect	285203	EOGT	ORPHA:974
HP:0034237	Open neural tube defect	54567	DLL4	ORPHA:974
HP:0034237	Open neural tube defect	57688	ZSWIM6	OMIM:603671
HP:0034237	Open neural tube defect	57688	ZSWIM6	ORPHA:1827
HP:0034237	Open neural tube defect	729920	CRPPA	OMIM:614643
HP:0034237	Open neural tube defect	23090	ZNF423	ORPHA:2318
HP:0034237	Open neural tube defect	2317	FLNB	OMIM:108720
HP:0034237	Open neural tube defect	2260	FGFR1	ORPHA:2117
HP:0034237	Open neural tube defect	3912	LAMB1	OMIM:615191
HP:0034237	Open neural tube defect	3912	LAMB1	ORPHA:352682
HP:0034237	Open neural tube defect	3339	HSPG2	OMIM:224410
HP:0034237	Open neural tube defect	160418	TMTC3	OMIM:617255
HP:0034237	Open neural tube defect	6608	SMO	OMIM:241800
HP:0034237	Open neural tube defect	10992	SF3B2	OMIM:164210
HP:0034237	Open neural tube defect	80781	COL18A1	OMIM:267750
HP:0034237	Open neural tube defect	80781	COL18A1	ORPHA:1571
HP:0034237	Open neural tube defect	29925	GMPPB	ORPHA:370959
HP:0034237	Open neural tube defect	79147	FKRP	ORPHA:370959
HP:0034237	Open neural tube defect	79147	FKRP	OMIM:236670
HP:0034237	Open neural tube defect	29954	POMT2	ORPHA:370959
HP:0034237	Open neural tube defect	29954	POMT2	OMIM:236670
HP:0034237	Open neural tube defect	84197	POMK	ORPHA:370959
HP:0034237	Open neural tube defect	55624	POMGNT1	ORPHA:370959
HP:0034237	Open neural tube defect	10585	POMT1	ORPHA:370959
HP:0034237	Open neural tube defect	10585	POMT1	OMIM:236670
HP:0034237	Open neural tube defect	200894	ARL13B	OMIM:612291
HP:0034237	Open neural tube defect	219854	TMEM218	OMIM:619562
HP:0034237	Open neural tube defect	56623	INPP5E	ORPHA:1454
HP:0034237	Open neural tube defect	56603	CYP26B1	OMIM:614416
HP:0034237	Open neural tube defect	5062	PAK2	ORPHA:1571
HP:0034237	Open neural tube defect	26005	C2CD3	OMIM:615948
HP:0034237	Open neural tube defect	9215	LARGE1	OMIM:236670
HP:0034237	Open neural tube defect	2218	FKTN	OMIM:236670
HP:0034237	Open neural tube defect	9896	FIG4	OMIM:216340
HP:0034237	Open neural tube defect	9896	FIG4	ORPHA:3472
HP:0034237	Open neural tube defect	55697	VAC14	ORPHA:3472
HP:0034237	Open neural tube defect	9928	KIF14	OMIM:616258
HP:0034237	Open neural tube defect	9928	KIF14	OMIM:617914
HP:0034237	Open neural tube defect	55636	CHD7	OMIM:214800
HP:0034237	Open neural tube defect	10535	RNASEH2A	ORPHA:51
HP:0034237	Open neural tube defect	84153	RNASEH2C	ORPHA:51
HP:0034237	Open neural tube defect	25939	SAMHD1	ORPHA:51
HP:0034237	Open neural tube defect	79621	RNASEH2B	ORPHA:51
HP:0034237	Open neural tube defect	103	ADAR	ORPHA:51
HP:0034237	Open neural tube defect	11277	TREX1	ORPHA:51
HP:0034237	Open neural tube defect	100147744	RNU7-1	ORPHA:51
HP:0034237	Open neural tube defect	134353	LSM11	ORPHA:51
HP:0034237	Open neural tube defect	64135	IFIH1	ORPHA:51
HP:0034237	Open neural tube defect	1312	COMT	ORPHA:567
HP:0034237	Open neural tube defect	221037	JMJD1C	ORPHA:567
HP:0034237	Open neural tube defect	2812	GP1BB	ORPHA:567
HP:0034237	Open neural tube defect	6239	RREB1	ORPHA:567
HP:0034237	Open neural tube defect	6899	TBX1	ORPHA:567
HP:0034237	Open neural tube defect	7290	HIRA	ORPHA:567
HP:0034237	Open neural tube defect	9632	SEC24C	ORPHA:567
HP:0034237	Open neural tube defect	7353	UFD1	ORPHA:567
HP:0034237	Open neural tube defect	421	ARVCF	ORPHA:567
HP:0034237	Open neural tube defect	2187	FANCB	ORPHA:3412
HP:0034237	Open neural tube defect	526	ATP6V1B2	ORPHA:79500
HP:0034237	Open neural tube defect	57465	TBC1D24	ORPHA:79500
HP:0034237	Open neural tube defect	10262	SF3B4	ORPHA:1788
HP:0034237	Open neural tube defect	64093	SMOC1	ORPHA:1106
HP:0034237	Open neural tube defect	81788	NUAK2	OMIM:619452
HP:0034237	Open neural tube defect	374654	KIF7	OMIM:614120
HP:0034237	Open neural tube defect	374654	KIF7	ORPHA:2189
HP:0034237	Open neural tube defect	57545	CC2D2A	OMIM:612284
HP:0034237	Open neural tube defect	57545	CC2D2A	ORPHA:564
HP:0034237	Open neural tube defect	9786	KIAA0586	OMIM:616546
HP:0034237	Open neural tube defect	80184	CEP290	OMIM:611134
HP:0034237	Open neural tube defect	80184	CEP290	ORPHA:564
HP:0034237	Open neural tube defect	57216	VANGL2	OMIM:182940
HP:0034237	Open neural tube defect	6347	CCL2	OMIM:182940
HP:0034237	Open neural tube defect	81839	VANGL1	OMIM:182940
HP:0034237	Open neural tube defect	6862	TBXT	OMIM:182940
HP:0034237	Open neural tube defect	80199	FUZ	OMIM:182940
HP:0034237	Open neural tube defect	219844	HYLS1	OMIM:236680
HP:0034237	Open neural tube defect	219844	HYLS1	ORPHA:2189
HP:0034237	Open neural tube defect	3239	HOXD13	ORPHA:887
HP:0034237	Open neural tube defect	84314	TMEM107	ORPHA:564
HP:0034237	Open neural tube defect	26123	TCTN3	ORPHA:564
HP:0034237	Open neural tube defect	79867	TCTN2	ORPHA:564
HP:0034237	Open neural tube defect	80776	B9D2	ORPHA:564
HP:0034237	Open neural tube defect	80776	B9D2	OMIM:614175
HP:0034237	Open neural tube defect	79600	TCTN1	ORPHA:564
HP:0034237	Open neural tube defect	57096	RPGRIP1	ORPHA:564
HP:0034237	Open neural tube defect	79848	CSPP1	ORPHA:564
HP:0034237	Open neural tube defect	51259	TMEM216	ORPHA:564
HP:0034237	Open neural tube defect	51259	TMEM216	OMIM:603194
HP:0034237	Open neural tube defect	79583	TMEM231	ORPHA:564
HP:0034237	Open neural tube defect	91147	TMEM67	ORPHA:564
HP:0034237	Open neural tube defect	79770	TXNDC15	ORPHA:564
HP:0034237	Open neural tube defect	27077	B9D1	ORPHA:564
HP:0034237	Open neural tube defect	23322	RPGRIP1L	ORPHA:564
HP:0034237	Open neural tube defect	23322	RPGRIP1L	OMIM:611561
HP:0034237	Open neural tube defect	54903	MKS1	ORPHA:564
HP:0034237	Open neural tube defect	54903	MKS1	OMIM:249000
HP:0034237	Open neural tube defect	65062	TMEM237	ORPHA:564
HP:0034237	Open neural tube defect	11041	B4GAT1	OMIM:615287
HP:0034237	Open neural tube defect	55521	TRIM36	OMIM:206500
HP:0034237	Open neural tube defect	51339	DACT1	ORPHA:63260
HP:0034237	Open neural tube defect	124997	WDR81	OMIM:617967
HP:0034237	Open neural tube defect	27238	GPKOW	ORPHA:2570
HP:0034237	Open neural tube defect	6913	TBX15	OMIM:260660
HP:0034237	Open neural tube defect	54820	NDE1	OMIM:605013
HP:0034237	Open neural tube defect	55165	CEP55	OMIM:236500
HP:0034237	Open neural tube defect	55640	FLVCR2	OMIM:225790
HP:0034237	Open neural tube defect	26227	PHGDH	OMIM:256520
HP:0034237	Open neural tube defect	7547	ZIC3	OMIM:306955
HP:0034237	Open neural tube defect	64840	PORCN	OMIM:305600
HP:0034237	Open neural tube defect	341640	FREM2	ORPHA:2052
HP:0034237	Open neural tube defect	80144	FRAS1	ORPHA:2052
HP:0034237	Open neural tube defect	80144	FRAS1	OMIM:219000
HP:0034237	Open neural tube defect	23426	GRIP1	ORPHA:2052
HP:0034237	Open neural tube defect	5077	PAX3	OMIM:193500
HP:0034237	Open neural tube defect	4488	MSX2	ORPHA:60015
HP:0034237	Open neural tube defect	60529	ALX4	ORPHA:60015
HP:0034237	Open neural tube defect	168667	BMPER	ORPHA:66637
HP:0034237	Open neural tube defect	10093	ARPC4	OMIM:620141
HP:0034237	Open neural tube defect	25942	SIN3A	ORPHA:94065
HP:0034237	Open neural tube defect	6628	SNRPB	ORPHA:1393
HP:0034237	Open neural tube defect	84667	HES7	OMIM:613686
HP:0034237	Open neural tube defect	8481	OFD1	OMIM:311200
HP:0034237	Open neural tube defect	2737	GLI3	ORPHA:93322
HP:0034237	Open neural tube defect	2316	FLNA	ORPHA:90652
HP:0034237	Open neural tube defect	3481	IGF2	ORPHA:2128
HP:0034237	Open neural tube defect	10984	KCNQ1OT1	ORPHA:2128
HP:0034237	Open neural tube defect	283120	H19	ORPHA:2128
HP:0034237	Open neural tube defect	6309	SC5D	OMIM:607330
HP:0034237	Open neural tube defect	257	ALX3	OMIM:136760
HP:0034237	Open neural tube defect	257	ALX3	ORPHA:391474
HP:0034237	Open neural tube defect	8092	ALX1	ORPHA:306542
HP:0034237	Open neural tube defect	28514	DLL1	ORPHA:280195
HP:0034237	Open neural tube defect	2253	FGF8	ORPHA:280195
HP:0034237	Open neural tube defect	6496	SIX3	ORPHA:280195
HP:0034237	Open neural tube defect	7050	TGIF1	ORPHA:280195
HP:0034237	Open neural tube defect	4838	NODAL	ORPHA:280195
HP:0034237	Open neural tube defect	6469	SHH	ORPHA:280195
HP:0034237	Open neural tube defect	7546	ZIC2	ORPHA:280195
HP:0034237	Open neural tube defect	6491	STIL	ORPHA:280195
HP:0034237	Open neural tube defect	2619	GAS1	ORPHA:280195
HP:0034237	Open neural tube defect	84976	DISP1	ORPHA:280195
HP:0034237	Open neural tube defect	2736	GLI2	ORPHA:280195
HP:0034237	Open neural tube defect	8928	FOXH1	ORPHA:280195
HP:0034237	Open neural tube defect	5727	PTCH1	ORPHA:280195
HP:0034237	Open neural tube defect	50937	CDON	ORPHA:280195
HP:0034237	Open neural tube defect	157570	ESCO2	OMIM:268300
HP:0034237	Open neural tube defect	30813	VSX1	OMIM:614195
HP:0034237	Open neural tube defect	3190	HNRNPK	OMIM:616580
HP:0034238	Closed neural tube defect	128240	NAXE	OMIM:617186
HP:0034238	Closed neural tube defect	215	ABCD1	ORPHA:139396
HP:0034238	Closed neural tube defect	1593	CYP27A1	ORPHA:909
HP:0034238	Closed neural tube defect	22943	DKK1	ORPHA:268882
HP:0034238	Closed neural tube defect	5921	RASA1	ORPHA:90307
HP:0034238	Closed neural tube defect	686	BTD	ORPHA:79241
HP:0034238	Closed neural tube defect	4771	NF2	ORPHA:637
HP:0034238	Closed neural tube defect	79158	GNPTAB	OMIM:252500
HP:0034238	Closed neural tube defect	2720	GLB1	OMIM:253010
HP:0034238	Closed neural tube defect	2131	EXT1	ORPHA:321
HP:0034238	Closed neural tube defect	2131	EXT1	OMIM:133700
HP:0034238	Closed neural tube defect	2132	EXT2	ORPHA:321
HP:0034238	Closed neural tube defect	2132	EXT2	OMIM:133701
HP:0034238	Closed neural tube defect	2588	GALNS	OMIM:253000
HP:0034238	Closed neural tube defect	64802	NMNAT1	OMIM:619260
HP:0034238	Closed neural tube defect	1280	COL2A1	OMIM:183900
HP:0034238	Closed neural tube defect	411	ARSB	OMIM:253200
HP:0034238	Closed neural tube defect	80184	CEP290	OMIM:611134
HP:0034238	Closed neural tube defect	134701	RIPPLY2	ORPHA:2311
HP:0034238	Closed neural tube defect	10683	DLL3	ORPHA:2311
HP:0034238	Closed neural tube defect	3955	LFNG	ORPHA:2311
HP:0034238	Closed neural tube defect	145873	MESP2	ORPHA:2311
HP:0034238	Closed neural tube defect	65062	TMEM237	OMIM:614424
HP:0034238	Closed neural tube defect	57688	ZSWIM6	ORPHA:1827
HP:0034238	Closed neural tube defect	148789	B3GALNT2	ORPHA:588
HP:0034238	Closed neural tube defect	29925	GMPPB	ORPHA:588
HP:0034238	Closed neural tube defect	79147	FKRP	ORPHA:588
HP:0034238	Closed neural tube defect	9215	LARGE1	ORPHA:588
HP:0034238	Closed neural tube defect	29954	POMT2	ORPHA:588
HP:0034238	Closed neural tube defect	2218	FKTN	ORPHA:588
HP:0034238	Closed neural tube defect	55624	POMGNT1	ORPHA:588
HP:0034238	Closed neural tube defect	10585	POMT1	ORPHA:588
HP:0034238	Closed neural tube defect	79848	CSPP1	ORPHA:397715
HP:0034238	Closed neural tube defect	4854	NOTCH3	OMIM:130720
HP:0034238	Closed neural tube defect	4854	NOTCH3	ORPHA:2789
HP:0034238	Closed neural tube defect	2697	GJA1	ORPHA:1010
HP:0034238	Closed neural tube defect	51259	TMEM216	OMIM:603194
HP:0034238	Closed neural tube defect	9786	KIAA0586	OMIM:616546
HP:0034238	Closed neural tube defect	80781	COL18A1	OMIM:267750
HP:0034238	Closed neural tube defect	5727	PTCH1	OMIM:610828
HP:0034238	Closed neural tube defect	7476	WNT7A	OMIM:276820
HP:0034238	Closed neural tube defect	65250	CPLANE1	OMIM:277170
HP:0034238	Closed neural tube defect	7547	ZIC3	OMIM:306955
HP:0034238	Closed neural tube defect	64840	PORCN	OMIM:305600
HP:0034238	Closed neural tube defect	341640	FREM2	ORPHA:2052
HP:0034238	Closed neural tube defect	80144	FRAS1	ORPHA:2052
HP:0034238	Closed neural tube defect	80144	FRAS1	OMIM:219000
HP:0034238	Closed neural tube defect	23426	GRIP1	ORPHA:2052
HP:0034238	Closed neural tube defect	5077	PAX3	OMIM:193500
HP:0034238	Closed neural tube defect	4488	MSX2	ORPHA:60015
HP:0034238	Closed neural tube defect	60529	ALX4	ORPHA:60015
HP:0034238	Closed neural tube defect	168667	BMPER	ORPHA:66637
HP:0034238	Closed neural tube defect	57216	VANGL2	OMIM:182940
HP:0034238	Closed neural tube defect	6347	CCL2	OMIM:182940
HP:0034238	Closed neural tube defect	81839	VANGL1	OMIM:182940
HP:0034238	Closed neural tube defect	81839	VANGL1	OMIM:600145
HP:0034238	Closed neural tube defect	6862	TBXT	OMIM:182940
HP:0034238	Closed neural tube defect	80199	FUZ	OMIM:182940
HP:0034238	Closed neural tube defect	80199	FUZ	ORPHA:1136
HP:0034238	Closed neural tube defect	10093	ARPC4	OMIM:620141
HP:0034238	Closed neural tube defect	25942	SIN3A	ORPHA:94065
HP:0034238	Closed neural tube defect	6628	SNRPB	ORPHA:1393
HP:0034238	Closed neural tube defect	84667	HES7	OMIM:613686
HP:0034238	Closed neural tube defect	8481	OFD1	OMIM:311200
HP:0034238	Closed neural tube defect	51339	DACT1	ORPHA:63260
HP:0034238	Closed neural tube defect	2737	GLI3	ORPHA:93322
HP:0034238	Closed neural tube defect	2316	FLNA	ORPHA:90652
HP:0034238	Closed neural tube defect	3481	IGF2	ORPHA:2128
HP:0034238	Closed neural tube defect	10984	KCNQ1OT1	ORPHA:2128
HP:0034238	Closed neural tube defect	283120	H19	ORPHA:2128
HP:0034238	Closed neural tube defect	6309	SC5D	OMIM:607330
HP:0034238	Closed neural tube defect	56623	INPP5E	OMIM:213300
HP:0034238	Closed neural tube defect	1312	COMT	ORPHA:567
HP:0034238	Closed neural tube defect	221037	JMJD1C	ORPHA:567
HP:0034238	Closed neural tube defect	2812	GP1BB	ORPHA:567
HP:0034238	Closed neural tube defect	6239	RREB1	ORPHA:567
HP:0034238	Closed neural tube defect	6899	TBX1	ORPHA:567
HP:0034238	Closed neural tube defect	7290	HIRA	ORPHA:567
HP:0034238	Closed neural tube defect	9632	SEC24C	ORPHA:567
HP:0034238	Closed neural tube defect	7353	UFD1	ORPHA:567
HP:0034238	Closed neural tube defect	421	ARVCF	ORPHA:567
HP:0034238	Closed neural tube defect	3190	HNRNPK	OMIM:616580
HP:0034238	Closed neural tube defect	6608	SMO	OMIM:601707
HP:0010624	Aplastic/hypoplastic toenail	3981	LIG4	ORPHA:235
HP:0010624	Aplastic/hypoplastic toenail	54888	NSUN2	ORPHA:235
HP:0010624	Aplastic/hypoplastic toenail	9997	SCO2	OMIM:604377
HP:0010624	Aplastic/hypoplastic toenail	81607	NECTIN4	OMIM:613573
HP:0010624	Aplastic/hypoplastic toenail	9894	TELO2	ORPHA:488642
HP:0010624	Aplastic/hypoplastic toenail	6804	STX1A	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	7461	CLIP2	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	84277	DNAJC30	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	8468	FKBP6	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	5982	RFC2	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	2969	GTF2I	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	3984	LIMK1	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	9569	GTF2IRD1	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	155382	VPS37D	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	155368	METTL27	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	114049	BUD23	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	7458	EIF4H	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	84163	GTF2IRD2	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	9275	BCL7B	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	26608	TBL2	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	653361	NCF1	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	135886	TMEM270	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	51085	MLXIPL	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	9031	BAZ1B	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	2006	ELN	ORPHA:904
HP:0010624	Aplastic/hypoplastic toenail	3636	INPPL1	ORPHA:3144
HP:0010624	Aplastic/hypoplastic toenail	23169	SLC35D1	ORPHA:3144
HP:0010624	Aplastic/hypoplastic toenail	85358	SHANK3	OMIM:606232
HP:0010624	Aplastic/hypoplastic toenail	85358	SHANK3	ORPHA:48652
HP:0010624	Aplastic/hypoplastic toenail	23028	KDM1A	OMIM:616728
HP:0010624	Aplastic/hypoplastic toenail	23028	KDM1A	ORPHA:477993
HP:0010624	Aplastic/hypoplastic toenail	27125	AFF4	ORPHA:444077
HP:0010624	Aplastic/hypoplastic toenail	9496	TBX4	ORPHA:238578
HP:0010624	Aplastic/hypoplastic toenail	57465	TBC1D24	OMIM:220500
HP:0010624	Aplastic/hypoplastic toenail	7750	ZMYM2	OMIM:619522
HP:0010624	Aplastic/hypoplastic toenail	54101	RIPK4	ORPHA:1234
HP:0010624	Aplastic/hypoplastic toenail	4953	ODC1	ORPHA:544488
HP:0010624	Aplastic/hypoplastic toenail	79971	WLS	OMIM:619648
HP:0010624	Aplastic/hypoplastic toenail	526	ATP6V1B2	ORPHA:79499
HP:0010624	Aplastic/hypoplastic toenail	6926	TBX3	ORPHA:3138
HP:0010624	Aplastic/hypoplastic toenail	79068	FTO	OMIM:612938
HP:0010624	Aplastic/hypoplastic toenail	7547	ZIC3	OMIM:306955
HP:0010624	Aplastic/hypoplastic toenail	1376	CPT2	OMIM:608836
HP:0010624	Aplastic/hypoplastic toenail	285203	EOGT	OMIM:615297
HP:0010624	Aplastic/hypoplastic toenail	1984	EIF5A	OMIM:619376
HP:0010624	Aplastic/hypoplastic toenail	54567	DLL4	OMIM:616589
HP:0010624	Aplastic/hypoplastic toenail	4851	NOTCH1	OMIM:616028
HP:0010624	Aplastic/hypoplastic toenail	2260	FGFR1	OMIM:166250
HP:0010624	Aplastic/hypoplastic toenail	1801	DPH1	OMIM:616901
HP:0010624	Aplastic/hypoplastic toenail	1801	DPH1	ORPHA:459061
HP:0010624	Aplastic/hypoplastic toenail	26123	TCTN3	ORPHA:2753
HP:0010624	Aplastic/hypoplastic toenail	64324	NSD1	ORPHA:3447
HP:0010624	Aplastic/hypoplastic toenail	8726	EED	ORPHA:3447
HP:0010624	Aplastic/hypoplastic toenail	23512	SUZ12	ORPHA:3447
HP:0010624	Aplastic/hypoplastic toenail	2146	EZH2	ORPHA:3447
HP:0010624	Aplastic/hypoplastic toenail	3265	HRAS	ORPHA:3071
HP:0010624	Aplastic/hypoplastic toenail	5566	PRKACA	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	5567	PRKACB	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	2735	GLI1	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	2121	EVC	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	2121	EVC	ORPHA:952
HP:0010624	Aplastic/hypoplastic toenail	51626	DYNC2LI1	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	132884	EVC2	ORPHA:289
HP:0010624	Aplastic/hypoplastic toenail	132884	EVC2	ORPHA:952
HP:0010624	Aplastic/hypoplastic toenail	1301	COL11A1	OMIM:228520
HP:0010624	Aplastic/hypoplastic toenail	8036	SHOC2	ORPHA:2701
HP:0010624	Aplastic/hypoplastic toenail	5500	PPP1CB	ORPHA:2701
HP:0010624	Aplastic/hypoplastic toenail	4487	MSX1	ORPHA:2228
HP:0010624	Aplastic/hypoplastic toenail	2239	GPC4	OMIM:301026
HP:0010624	Aplastic/hypoplastic toenail	64840	PORCN	OMIM:305600
HP:0010624	Aplastic/hypoplastic toenail	3861	KRT14	ORPHA:89838
HP:0010624	Aplastic/hypoplastic toenail	1294	COL7A1	ORPHA:231568
HP:0010624	Aplastic/hypoplastic toenail	1294	COL7A1	ORPHA:158676
HP:0010624	Aplastic/hypoplastic toenail	1294	COL7A1	ORPHA:89842
HP:0010624	Aplastic/hypoplastic toenail	1832	DSP	ORPHA:158687
HP:0010624	Aplastic/hypoplastic toenail	3728	JUP	ORPHA:158687
HP:0010624	Aplastic/hypoplastic toenail	613	BCR	ORPHA:261330
HP:0010624	Aplastic/hypoplastic toenail	1399	CRKL	ORPHA:261330
HP:0010624	Aplastic/hypoplastic toenail	5594	MAPK1	ORPHA:261330
HP:0010624	Aplastic/hypoplastic toenail	7476	WNT7A	OMIM:228930
HP:0010624	Aplastic/hypoplastic toenail	3782	KCNN3	OMIM:618658
HP:0010624	Aplastic/hypoplastic toenail	4038	LRP4	ORPHA:3258
HP:0010624	Aplastic/hypoplastic toenail	324	APC	ORPHA:3258
HP:0010624	Aplastic/hypoplastic toenail	3756	KCNH1	ORPHA:420561
HP:0010624	Aplastic/hypoplastic toenail	9241	NOG	OMIM:186500
HP:0010624	Aplastic/hypoplastic toenail	6595	SMARCA2	OMIM:619293
HP:0010624	Aplastic/hypoplastic toenail	6473	SHOX	ORPHA:240
HP:0010624	Aplastic/hypoplastic toenail	8200	GDF5	OMIM:228900
HP:0010624	Aplastic/hypoplastic toenail	80169	CTC1	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	26277	TINF2	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	55651	NHP2	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	79650	USB1	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	55135	WRAP53	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	51750	RTEL1	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	4869	NPM1	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	7012	TERC	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	55505	NOP10	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	5073	PARN	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	7015	TERT	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	1736	DKC1	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	7298	TYMS	ORPHA:1775
HP:0010624	Aplastic/hypoplastic toenail	150468	CKAP2L	ORPHA:3255
HP:0010624	Aplastic/hypoplastic toenail	3516	RBPJ	ORPHA:974
HP:0010624	Aplastic/hypoplastic toenail	57514	ARHGAP31	ORPHA:974
HP:0010624	Aplastic/hypoplastic toenail	57572	DOCK6	ORPHA:974
HP:0010624	Aplastic/hypoplastic toenail	6597	SMARCA4	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6598	SMARCB1	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6659	SOX4	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	8289	ARID1A	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	5977	DPF2	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	5977	DPF2	OMIM:618027
HP:0010624	Aplastic/hypoplastic toenail	6601	SMARCC2	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6602	SMARCD1	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	57492	ARID1B	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	196528	ARID2	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6605	SMARCE1	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6664	SOX11	ORPHA:1465
HP:0010624	Aplastic/hypoplastic toenail	6664	SOX11	OMIM:615866
HP:0010624	Aplastic/hypoplastic toenail	6418	SET	OMIM:618106
HP:0010624	Aplastic/hypoplastic toenail	5528	PPP2R5D	ORPHA:457279
HP:0010624	Aplastic/hypoplastic toenail	3209	HOXA13	ORPHA:2438
HP:0010624	Aplastic/hypoplastic toenail	3852	KRT5	OMIM:131960
HP:0010624	Aplastic/hypoplastic toenail	5281	PIGF	OMIM:619356
HP:0001812	Hyperconvex fingernails	6197	RPS6KA3	OMIM:303600
HP:0001812	Hyperconvex fingernails	6197	RPS6KA3	ORPHA:192
HP:0001812	Hyperconvex fingernails	5339	PLEC	ORPHA:257
HP:0001812	Hyperconvex fingernails	51360	MBTPS2	ORPHA:2273
HP:0001812	Hyperconvex fingernails	9791	PTDSS1	ORPHA:2658
HP:0001812	Hyperconvex fingernails	53834	FGFRL1	OMIM:194190
HP:0001812	Hyperconvex fingernails	1487	CTBP1	OMIM:194190
HP:0001812	Hyperconvex fingernails	3954	LETM1	OMIM:194190
HP:0001812	Hyperconvex fingernails	7468	NSD2	OMIM:194190
HP:0001812	Hyperconvex fingernails	10815	CPLX1	OMIM:194190
HP:0008383	Slow-growing nails	10804	GJB6	ORPHA:189
HP:0008404	Nail dystrophy	54800	KLHL24	OMIM:617294
HP:0008404	Nail dystrophy	4851	NOTCH1	OMIM:616028
HP:0008404	Nail dystrophy	7879	RAB7A	OMIM:600882
HP:0008404	Nail dystrophy	64065	PERP	OMIM:619209
HP:0008404	Nail dystrophy	6605	SMARCE1	OMIM:616938
HP:0008404	Nail dystrophy	6335	SCN9A	ORPHA:970
HP:0008404	Nail dystrophy	65125	WNK1	ORPHA:970
HP:0008404	Nail dystrophy	54463	RETREG1	ORPHA:970
HP:0008404	Nail dystrophy	547	KIF1A	ORPHA:970
HP:0008404	Nail dystrophy	5317	PKP1	OMIM:604536
HP:0008404	Nail dystrophy	80326	WNT10A	OMIM:150400
HP:0008404	Nail dystrophy	80326	WNT10A	OMIM:257980
HP:0008404	Nail dystrophy	6774	STAT3	ORPHA:2314
HP:0008404	Nail dystrophy	5604	MAP2K1	ORPHA:1340
HP:0008404	Nail dystrophy	5605	MAP2K2	ORPHA:1340
HP:0008404	Nail dystrophy	3845	KRAS	ORPHA:1340
HP:0008404	Nail dystrophy	673	BRAF	ORPHA:1340
HP:0008404	Nail dystrophy	404672	GTF2H5	ORPHA:33364
HP:0008404	Nail dystrophy	833	CARS1	ORPHA:33364
HP:0008404	Nail dystrophy	2068	ERCC2	ORPHA:33364
HP:0008404	Nail dystrophy	7737	RNF113A	ORPHA:33364
HP:0008404	Nail dystrophy	136647	MPLKIP	ORPHA:33364
HP:0008404	Nail dystrophy	6897	TARS1	ORPHA:33364
HP:0008404	Nail dystrophy	2071	ERCC3	ORPHA:33364
HP:0008404	Nail dystrophy	2961	GTF2E2	ORPHA:33364
HP:0008404	Nail dystrophy	121391	KRT74	OMIM:614929
HP:0008404	Nail dystrophy	4000	LMNA	ORPHA:740
HP:0008404	Nail dystrophy	10269	ZMPSTE24	ORPHA:740
HP:0008404	Nail dystrophy	51360	MBTPS2	OMIM:308800
HP:0008404	Nail dystrophy	51360	MBTPS2	OMIM:308205
HP:0008404	Nail dystrophy	26137	ZBTB20	OMIM:259050
HP:0008404	Nail dystrophy	3106	HLA-B	ORPHA:29207
HP:0008404	Nail dystrophy	1294	COL7A1	ORPHA:231568
HP:0008404	Nail dystrophy	1294	COL7A1	ORPHA:158676
HP:0008404	Nail dystrophy	1294	COL7A1	ORPHA:158673
HP:0008404	Nail dystrophy	1308	COL17A1	OMIM:619787
HP:0008404	Nail dystrophy	1308	COL17A1	ORPHA:251393
HP:0008404	Nail dystrophy	860	RUNX2	ORPHA:1452
HP:0008404	Nail dystrophy	3248	HPGD	ORPHA:217059
HP:0008404	Nail dystrophy	5818	NECTIN1	ORPHA:3253
HP:0008404	Nail dystrophy	3691	ITGB4	ORPHA:251393
HP:0008404	Nail dystrophy	7051	TGM1	OMIM:242300
HP:0008404	Nail dystrophy	7051	TGM1	ORPHA:100976
HP:0008404	Nail dystrophy	26277	TINF2	OMIM:268130
HP:0008404	Nail dystrophy	26277	TINF2	OMIM:127550
HP:0008404	Nail dystrophy	26277	TINF2	ORPHA:3322
HP:0008404	Nail dystrophy	26277	TINF2	ORPHA:1775
HP:0008404	Nail dystrophy	51750	RTEL1	OMIM:615190
HP:0008404	Nail dystrophy	51750	RTEL1	ORPHA:3322
HP:0008404	Nail dystrophy	51750	RTEL1	ORPHA:1775
HP:0008404	Nail dystrophy	4791	NFKB2	ORPHA:293978
HP:0008404	Nail dystrophy	5339	PLEC	OMIM:226730
HP:0008404	Nail dystrophy	5339	PLEC	ORPHA:158684
HP:0008404	Nail dystrophy	5339	PLEC	OMIM:616487
HP:0008404	Nail dystrophy	5339	PLEC	OMIM:226670
HP:0008404	Nail dystrophy	3861	KRT14	OMIM:131760
HP:0008404	Nail dystrophy	3861	KRT14	ORPHA:79400
HP:0008404	Nail dystrophy	3861	KRT14	ORPHA:69087
HP:0008404	Nail dystrophy	3861	KRT14	OMIM:131900
HP:0008404	Nail dystrophy	3861	KRT14	ORPHA:79396
HP:0008404	Nail dystrophy	3861	KRT14	ORPHA:79397
HP:0008404	Nail dystrophy	3861	KRT14	ORPHA:79399
HP:0008404	Nail dystrophy	3861	KRT14	OMIM:125595
HP:0008404	Nail dystrophy	3852	KRT5	OMIM:131760
HP:0008404	Nail dystrophy	3852	KRT5	ORPHA:158681
HP:0008404	Nail dystrophy	3852	KRT5	ORPHA:79400
HP:0008404	Nail dystrophy	3852	KRT5	OMIM:131960
HP:0008404	Nail dystrophy	3852	KRT5	ORPHA:79396
HP:0008404	Nail dystrophy	3852	KRT5	ORPHA:79397
HP:0008404	Nail dystrophy	3852	KRT5	ORPHA:79399
HP:0008404	Nail dystrophy	19	ABCA1	OMIM:205400
HP:0008404	Nail dystrophy	19	ABCA1	ORPHA:31150
HP:0008404	Nail dystrophy	3868	KRT16	OMIM:167200
HP:0008404	Nail dystrophy	3868	KRT16	ORPHA:2309
HP:0008404	Nail dystrophy	64682	ANAPC1	OMIM:618625
HP:0008404	Nail dystrophy	1736	DKC1	OMIM:305000
HP:0008404	Nail dystrophy	1736	DKC1	ORPHA:3322
HP:0008404	Nail dystrophy	1736	DKC1	ORPHA:1775
HP:0008404	Nail dystrophy	56916	SMARCAD1	OMIM:129200
HP:0008404	Nail dystrophy	56916	SMARCAD1	OMIM:181600
HP:0008404	Nail dystrophy	8626	TP63	OMIM:604292
HP:0008404	Nail dystrophy	8626	TP63	OMIM:106260
HP:0008404	Nail dystrophy	8626	TP63	OMIM:129400
HP:0008404	Nail dystrophy	8626	TP63	ORPHA:1896
HP:0008404	Nail dystrophy	3891	KRT85	OMIM:602032
HP:0008404	Nail dystrophy	79650	USB1	OMIM:604173
HP:0008404	Nail dystrophy	79650	USB1	ORPHA:1775
HP:0008404	Nail dystrophy	3655	ITGA6	ORPHA:79403
HP:0008404	Nail dystrophy	9401	RECQL4	OMIM:268400
HP:0008404	Nail dystrophy	3909	LAMA3	ORPHA:79404
HP:0008404	Nail dystrophy	3909	LAMA3	OMIM:245660
HP:0008404	Nail dystrophy	3909	LAMA3	ORPHA:79402
HP:0008404	Nail dystrophy	3909	LAMA3	OMIM:226700
HP:0008404	Nail dystrophy	3918	LAMC2	ORPHA:79404
HP:0008404	Nail dystrophy	3918	LAMC2	ORPHA:79402
HP:0008404	Nail dystrophy	3918	LAMC2	OMIM:226700
HP:0008404	Nail dystrophy	3914	LAMB3	ORPHA:79404
HP:0008404	Nail dystrophy	3914	LAMB3	ORPHA:79402
HP:0008404	Nail dystrophy	3914	LAMB3	OMIM:226650
HP:0008404	Nail dystrophy	3914	LAMB3	OMIM:226700
HP:0008404	Nail dystrophy	6720	SREBF1	OMIM:158310
HP:0008404	Nail dystrophy	6720	SREBF1	OMIM:619016
HP:0008404	Nail dystrophy	4312	MMP1	ORPHA:79408
HP:0008404	Nail dystrophy	4312	MMP1	OMIM:226600
HP:0008404	Nail dystrophy	3728	JUP	OMIM:601214
HP:0008404	Nail dystrophy	1349	COX7B	OMIM:300887
HP:0008404	Nail dystrophy	4598	MVK	OMIM:175900
HP:0008404	Nail dystrophy	55651	NHP2	OMIM:613987
HP:0008404	Nail dystrophy	55651	NHP2	OMIM:224230
HP:0008404	Nail dystrophy	55651	NHP2	ORPHA:1775
HP:0008404	Nail dystrophy	10084	PQBP1	ORPHA:93947
HP:0008404	Nail dystrophy	3872	KRT17	OMIM:167210
HP:0008404	Nail dystrophy	3872	KRT17	ORPHA:2309
HP:0008404	Nail dystrophy	7012	TERC	OMIM:127550
HP:0008404	Nail dystrophy	7012	TERC	ORPHA:1775
HP:0008404	Nail dystrophy	7015	TERT	OMIM:127550
HP:0008404	Nail dystrophy	7015	TERT	OMIM:613989
HP:0008404	Nail dystrophy	7015	TERT	ORPHA:3322
HP:0008404	Nail dystrophy	7015	TERT	ORPHA:1775
HP:0008404	Nail dystrophy	55135	WRAP53	OMIM:613988
HP:0008404	Nail dystrophy	55135	WRAP53	ORPHA:1775
HP:0008404	Nail dystrophy	977	CD151	OMIM:609057
HP:0008404	Nail dystrophy	7298	TYMS	OMIM:620040
HP:0008404	Nail dystrophy	7298	TYMS	ORPHA:1775
HP:0008404	Nail dystrophy	56992	KIF15	ORPHA:261323
HP:0008404	Nail dystrophy	4141	MARS1	OMIM:619692
HP:0008404	Nail dystrophy	130340	AP1S3	OMIM:616106
HP:0008404	Nail dystrophy	10616	RBCK1	OMIM:615895
HP:0008404	Nail dystrophy	545	ATR	OMIM:614564
HP:0008404	Nail dystrophy	340061	STING1	OMIM:615934
HP:0008404	Nail dystrophy	26525	IL36RN	OMIM:614204
HP:0008404	Nail dystrophy	284654	RSPO1	OMIM:610644
HP:0008404	Nail dystrophy	8456	FOXN1	OMIM:618806
HP:0008404	Nail dystrophy	8456	FOXN1	OMIM:601705
HP:0008404	Nail dystrophy	10804	GJB6	OMIM:129500
HP:0008404	Nail dystrophy	10804	GJB6	ORPHA:477
HP:0008404	Nail dystrophy	10804	GJB6	ORPHA:189
HP:0008404	Nail dystrophy	1828	DSG1	OMIM:148700
HP:0008404	Nail dystrophy	3848	KRT1	ORPHA:79503
HP:0008404	Nail dystrophy	1475	CSTA	OMIM:607936
HP:0008404	Nail dystrophy	51371	POMP	OMIM:601952
HP:0008404	Nail dystrophy	7319	UBE2A	OMIM:300860
HP:0008404	Nail dystrophy	7319	UBE2A	ORPHA:163956
HP:0008404	Nail dystrophy	7286	TUFT1	OMIM:607655
HP:0008404	Nail dystrophy	23328	SASH1	OMIM:618373
HP:0008404	Nail dystrophy	5073	PARN	OMIM:616353
HP:0008404	Nail dystrophy	5073	PARN	ORPHA:3322
HP:0008404	Nail dystrophy	5073	PARN	ORPHA:1775
HP:0008404	Nail dystrophy	4914	NTRK1	OMIM:256800
HP:0008404	Nail dystrophy	667	DST	OMIM:615425
HP:0008404	Nail dystrophy	1832	DSP	OMIM:615821
HP:0008404	Nail dystrophy	3853	KRT6A	ORPHA:2309
HP:0008404	Nail dystrophy	3853	KRT6A	OMIM:615726
HP:0008404	Nail dystrophy	3854	KRT6B	ORPHA:2309
HP:0008404	Nail dystrophy	3854	KRT6B	OMIM:615728
HP:0008404	Nail dystrophy	2121	EVC	ORPHA:952
HP:0008404	Nail dystrophy	132884	EVC2	ORPHA:952
HP:0008404	Nail dystrophy	1075	CTSC	ORPHA:678
HP:0008404	Nail dystrophy	2706	GJB2	ORPHA:477
HP:0008404	Nail dystrophy	2706	GJB2	OMIM:148210
HP:0008404	Nail dystrophy	64840	PORCN	OMIM:305600
HP:0008404	Nail dystrophy	3887	KRT81	OMIM:158000
HP:0008404	Nail dystrophy	3889	KRT83	OMIM:158000
HP:0008404	Nail dystrophy	3892	KRT86	OMIM:158000
HP:0008404	Nail dystrophy	134218	DNAJC21	OMIM:617052
HP:0008404	Nail dystrophy	54914	FOCAD	OMIM:619991
HP:0008404	Nail dystrophy	55505	NOP10	OMIM:224230
HP:0008404	Nail dystrophy	55505	NOP10	ORPHA:1775
HP:0008404	Nail dystrophy	126695	KDF1	OMIM:617337
HP:0008404	Nail dystrophy	3675	ITGA3	OMIM:614748
HP:0008404	Nail dystrophy	8085	KMT2D	OMIM:620186
HP:0008404	Nail dystrophy	1041	CDSN	OMIM:270300
HP:0008404	Nail dystrophy	7373	COL14A1	ORPHA:79501
HP:0008404	Nail dystrophy	79719	AAGAB	ORPHA:79501
HP:0008404	Nail dystrophy	2934	GSN	ORPHA:85448
HP:0008404	Nail dystrophy	10651	MTX2	OMIM:619127
HP:0008404	Nail dystrophy	162514	TRPV3	OMIM:614594
HP:0008404	Nail dystrophy	6117	RPA1	OMIM:619767
HP:0008404	Nail dystrophy	526	ATP6V1B2	OMIM:124480
HP:0008404	Nail dystrophy	51062	ATL1	OMIM:613708
HP:0008404	Nail dystrophy	4094	MAF	OMIM:601088
HP:0008404	Nail dystrophy	1493	CTLA4	ORPHA:3162
HP:0008404	Nail dystrophy	940	CD28	ORPHA:3162
HP:0008404	Nail dystrophy	7133	TNFRSF1B	ORPHA:3162
HP:0008404	Nail dystrophy	326	AIRE	OMIM:240300
HP:0008404	Nail dystrophy	7157	TP53	OMIM:618165
HP:0008404	Nail dystrophy	79977	GRHL2	OMIM:616029
HP:0008404	Nail dystrophy	50943	FOXP3	ORPHA:37042
HP:0008404	Nail dystrophy	8815	BANF1	OMIM:614008
HP:0008404	Nail dystrophy	5297	PI4KA	ORPHA:436252
HP:0008404	Nail dystrophy	57217	TTC7A	ORPHA:436252
HP:0008404	Nail dystrophy	65057	ACD	ORPHA:3322
HP:0008404	Nail dystrophy	65057	ACD	OMIM:616553
HP:0008404	Nail dystrophy	22861	NLRP1	OMIM:615225
HP:0008404	Nail dystrophy	80169	CTC1	OMIM:612199
HP:0008404	Nail dystrophy	80169	CTC1	ORPHA:1775
HP:0008404	Nail dystrophy	4869	NPM1	ORPHA:1775
HP:0008404	Nail dystrophy	2316	FLNA	OMIM:311300
HP:0008404	Nail dystrophy	488	ATP2A2	ORPHA:79151
HP:0008404	Nail dystrophy	2697	GJA1	ORPHA:1010
HP:0008404	Nail dystrophy	3229	HOXC13	OMIM:614931
HP:0008404	Nail dystrophy	4014	LORICRIN	ORPHA:79395
HP:0008404	Nail dystrophy	8517	IKBKG	OMIM:308300
HP:0008404	Nail dystrophy	64858	DCLRE1B	OMIM:620133
HP:0008404	Nail dystrophy	5189	PEX1	OMIM:234580
HP:0008404	Nail dystrophy	5190	PEX6	OMIM:616617
HP:0008386	Aplasia/Hypoplasia of the nails	9488	PIGB	OMIM:618580
HP:0008386	Aplasia/Hypoplasia of the nails	4487	MSX1	OMIM:189500
HP:0008386	Aplasia/Hypoplasia of the nails	10617	STAMBP	OMIM:614261
HP:0008386	Aplasia/Hypoplasia of the nails	23013	SPEN	OMIM:619312
HP:0008386	Aplasia/Hypoplasia of the nails	6477	SIAH1	OMIM:619314
HP:0008386	Aplasia/Hypoplasia of the nails	81607	NECTIN4	OMIM:613573
HP:0008386	Aplasia/Hypoplasia of the nails	84529	CDIN1	OMIM:615631
HP:0008386	Aplasia/Hypoplasia of the nails	5894	RAF1	OMIM:611553
HP:0008386	Aplasia/Hypoplasia of the nails	3209	HOXA13	OMIM:140000
HP:0008386	Aplasia/Hypoplasia of the nails	84942	WDR73	OMIM:251300
HP:0008386	Aplasia/Hypoplasia of the nails	80144	FRAS1	OMIM:219000
HP:0008386	Aplasia/Hypoplasia of the nails	64324	NSD1	ORPHA:821
HP:0008386	Aplasia/Hypoplasia of the nails	64324	NSD1	OMIM:117550
HP:0008386	Aplasia/Hypoplasia of the nails	29072	SETD2	ORPHA:821
HP:0008386	Aplasia/Hypoplasia of the nails	10297	APC2	ORPHA:821
HP:0008386	Aplasia/Hypoplasia of the nails	55593	OTUD5	OMIM:301056
HP:0008386	Aplasia/Hypoplasia of the nails	51412	ACTL6B	OMIM:618470
HP:0008386	Aplasia/Hypoplasia of the nails	8200	GDF5	OMIM:228900
HP:0008386	Aplasia/Hypoplasia of the nails	56916	SMARCAD1	ORPHA:384
HP:0008386	Aplasia/Hypoplasia of the nails	56916	SMARCAD1	OMIM:181600
HP:0008386	Aplasia/Hypoplasia of the nails	29998	BICRA	OMIM:619325
HP:0008386	Aplasia/Hypoplasia of the nails	473	RERE	OMIM:616975
HP:0008386	Aplasia/Hypoplasia of the nails	55784	MCTP2	ORPHA:1596
HP:0008386	Aplasia/Hypoplasia of the nails	4953	ODC1	ORPHA:544488
HP:0008386	Aplasia/Hypoplasia of the nails	4953	ODC1	OMIM:619075
HP:0008386	Aplasia/Hypoplasia of the nails	999	CDH1	OMIM:119580
HP:0008386	Aplasia/Hypoplasia of the nails	150468	CKAP2L	ORPHA:3255
HP:0008386	Aplasia/Hypoplasia of the nails	1294	COL7A1	ORPHA:79410
HP:0008386	Aplasia/Hypoplasia of the nails	55650	PIGV	OMIM:239300
HP:0008386	Aplasia/Hypoplasia of the nails	55650	PIGV	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	7102	TSPAN7	OMIM:300210
HP:0008386	Aplasia/Hypoplasia of the nails	56992	KIF15	ORPHA:261323
HP:0008386	Aplasia/Hypoplasia of the nails	84992	PIGY	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	84720	PIGO	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	93210	PGAP3	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	284098	PIGW	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	27315	PGAP2	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	9487	PIGL	ORPHA:247262
HP:0008386	Aplasia/Hypoplasia of the nails	10940	POP1	OMIM:617396
HP:0008386	Aplasia/Hypoplasia of the nails	51132	RLIM	OMIM:300978
HP:0008386	Aplasia/Hypoplasia of the nails	3549	IHH	ORPHA:63446
HP:0008386	Aplasia/Hypoplasia of the nails	3756	KCNH1	OMIM:135500
HP:0008386	Aplasia/Hypoplasia of the nails	50814	NSDHL	OMIM:308050
HP:0008386	Aplasia/Hypoplasia of the nails	6597	SMARCA4	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6598	SMARCB1	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6659	SOX4	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	8289	ARID1A	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	8289	ARID1A	OMIM:614607
HP:0008386	Aplasia/Hypoplasia of the nails	5977	DPF2	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6601	SMARCC2	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6602	SMARCD1	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	57492	ARID1B	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	196528	ARID2	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6605	SMARCE1	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	6664	SOX11	ORPHA:1465
HP:0008386	Aplasia/Hypoplasia of the nails	284654	RSPO1	OMIM:610644
HP:0008386	Aplasia/Hypoplasia of the nails	10804	GJB6	OMIM:129500
HP:0008386	Aplasia/Hypoplasia of the nails	10804	GJB6	ORPHA:189
HP:0008386	Aplasia/Hypoplasia of the nails	727857	BHLHA9	OMIM:607539
HP:0008386	Aplasia/Hypoplasia of the nails	2068	ERCC2	OMIM:601675
HP:0008386	Aplasia/Hypoplasia of the nails	8726	EED	OMIM:617561
HP:0008386	Aplasia/Hypoplasia of the nails	5277	PIGA	OMIM:300868
HP:0008386	Aplasia/Hypoplasia of the nails	3782	KCNN3	OMIM:618658
HP:0008386	Aplasia/Hypoplasia of the nails	57572	DOCK6	OMIM:614219
HP:0008386	Aplasia/Hypoplasia of the nails	2121	EVC	ORPHA:952
HP:0008386	Aplasia/Hypoplasia of the nails	2121	EVC	OMIM:193530
HP:0008386	Aplasia/Hypoplasia of the nails	132884	EVC2	ORPHA:952
HP:0008386	Aplasia/Hypoplasia of the nails	132884	EVC2	OMIM:193530
HP:0008386	Aplasia/Hypoplasia of the nails	242	ALOX12B	OMIM:242100
HP:0008386	Aplasia/Hypoplasia of the nails	59344	ALOXE3	OMIM:242100
HP:0008386	Aplasia/Hypoplasia of the nails	84065	TMEM222	OMIM:619470
HP:0008386	Aplasia/Hypoplasia of the nails	80326	WNT10A	OMIM:224750
HP:0008386	Aplasia/Hypoplasia of the nails	8493	PPM1D	OMIM:617450
HP:0008386	Aplasia/Hypoplasia of the nails	134218	DNAJC21	OMIM:617052
HP:0008386	Aplasia/Hypoplasia of the nails	55651	NHP2	OMIM:224230
HP:0008386	Aplasia/Hypoplasia of the nails	55505	NOP10	OMIM:224230
HP:0008386	Aplasia/Hypoplasia of the nails	29957	SLC25A24	OMIM:612289
HP:0008386	Aplasia/Hypoplasia of the nails	57514	ARHGAP31	OMIM:100300
HP:0008386	Aplasia/Hypoplasia of the nails	5828	PEX2	OMIM:614866
HP:0008386	Aplasia/Hypoplasia of the nails	10283	CWC27	OMIM:250410
HP:0008386	Aplasia/Hypoplasia of the nails	10283	CWC27	ORPHA:166035
HP:0008386	Aplasia/Hypoplasia of the nails	8626	TP63	OMIM:129400
HP:0008386	Aplasia/Hypoplasia of the nails	9719	ADAMTSL2	OMIM:231050
HP:0008386	Aplasia/Hypoplasia of the nails	11128	POLR3A	OMIM:264090
HP:0008386	Aplasia/Hypoplasia of the nails	8085	KMT2D	OMIM:620186
HP:0008386	Aplasia/Hypoplasia of the nails	136647	MPLKIP	OMIM:234050
HP:0008386	Aplasia/Hypoplasia of the nails	2263	FGFR2	OMIM:123790
HP:0008386	Aplasia/Hypoplasia of the nails	7291	TWIST1	OMIM:617746
HP:0008386	Aplasia/Hypoplasia of the nails	526	ATP6V1B2	OMIM:124480
HP:0008386	Aplasia/Hypoplasia of the nails	388015	RTL1	ORPHA:96334
HP:0008386	Aplasia/Hypoplasia of the nails	8788	DLK1	ORPHA:96334
HP:0008386	Aplasia/Hypoplasia of the nails	55384	MEG3	ORPHA:96334
HP:0008386	Aplasia/Hypoplasia of the nails	51085	MLXIPL	OMIM:194050
HP:0008386	Aplasia/Hypoplasia of the nails	2006	ELN	OMIM:194050
HP:0008386	Aplasia/Hypoplasia of the nails	4920	ROR2	OMIM:268310
HP:0008386	Aplasia/Hypoplasia of the nails	2239	GPC4	ORPHA:373
HP:0008386	Aplasia/Hypoplasia of the nails	2719	GPC3	ORPHA:373
HP:0008386	Aplasia/Hypoplasia of the nails	57479	PRR12	OMIM:619539
HP:0008386	Aplasia/Hypoplasia of the nails	79087	ALG12	ORPHA:79324
HP:0008386	Aplasia/Hypoplasia of the nails	10195	ALG3	OMIM:601110
HP:0008386	Aplasia/Hypoplasia of the nails	8295	TRRAP	OMIM:618454
HP:0008386	Aplasia/Hypoplasia of the nails	57647	DHX37	OMIM:618731
HP:0008386	Aplasia/Hypoplasia of the nails	54101	RIPK4	OMIM:263650
HP:0008386	Aplasia/Hypoplasia of the nails	341208	HEPHL1	OMIM:261990
HP:0008386	Aplasia/Hypoplasia of the nails	25871	NEPRO	OMIM:618853
HP:0008386	Aplasia/Hypoplasia of the nails	25886	POC1A	OMIM:614813
HP:0008386	Aplasia/Hypoplasia of the nails	10075	HUWE1	OMIM:309590
HP:0008386	Aplasia/Hypoplasia of the nails	3691	ITGB4	OMIM:226730
HP:0008386	Aplasia/Hypoplasia of the nails	3691	ITGB4	ORPHA:79402
HP:0008386	Aplasia/Hypoplasia of the nails	3909	LAMA3	ORPHA:79404
HP:0008386	Aplasia/Hypoplasia of the nails	3909	LAMA3	ORPHA:79402
HP:0008386	Aplasia/Hypoplasia of the nails	3918	LAMC2	ORPHA:79404
HP:0008386	Aplasia/Hypoplasia of the nails	3918	LAMC2	ORPHA:79402
HP:0008386	Aplasia/Hypoplasia of the nails	3914	LAMB3	ORPHA:79404
HP:0008386	Aplasia/Hypoplasia of the nails	3914	LAMB3	ORPHA:79402
HP:0008386	Aplasia/Hypoplasia of the nails	4010	LMX1B	OMIM:161200
HP:0008386	Aplasia/Hypoplasia of the nails	1308	COL17A1	ORPHA:79406
HP:0008386	Aplasia/Hypoplasia of the nails	1308	COL17A1	ORPHA:79402
HP:0008386	Aplasia/Hypoplasia of the nails	4312	MMP1	ORPHA:79408
HP:0008386	Aplasia/Hypoplasia of the nails	72	ACTG2	ORPHA:2604
HP:0008386	Aplasia/Hypoplasia of the nails	343637	RSPO4	OMIM:206800
HP:0008386	Aplasia/Hypoplasia of the nails	5932	RBBP8	OMIM:251255
HP:0008386	Aplasia/Hypoplasia of the nails	26137	ZBTB20	ORPHA:3042
HP:0008386	Aplasia/Hypoplasia of the nails	79977	GRHL2	OMIM:616029
HP:0008386	Aplasia/Hypoplasia of the nails	488	ATP2A2	ORPHA:79151
HP:0008386	Aplasia/Hypoplasia of the nails	4882	NPR2	OMIM:602875
HP:0008386	Aplasia/Hypoplasia of the nails	2317	FLNB	OMIM:150250
HP:0008386	Aplasia/Hypoplasia of the nails	2317	FLNB	ORPHA:503
HP:0008386	Aplasia/Hypoplasia of the nails	112752	IFT43	OMIM:614099
HP:0008386	Aplasia/Hypoplasia of the nails	1806	DPYD	ORPHA:1675
HP:0008386	Aplasia/Hypoplasia of the nails	4853	NOTCH2	OMIM:102500
HP:0008386	Aplasia/Hypoplasia of the nails	4000	LMNA	ORPHA:1662
HP:0008386	Aplasia/Hypoplasia of the nails	10269	ZMPSTE24	ORPHA:1662
HP:0008386	Aplasia/Hypoplasia of the nails	10269	ZMPSTE24	OMIM:275210
HP:0008386	Aplasia/Hypoplasia of the nails	23545	ATP6V0A2	OMIM:278250
HP:0008386	Aplasia/Hypoplasia of the nails	6662	SOX9	OMIM:114290
HP:0008386	Aplasia/Hypoplasia of the nails	55764	IFT122	OMIM:218330
HP:0008386	Aplasia/Hypoplasia of the nails	126792	B3GALT6	OMIM:271640
HP:0008386	Aplasia/Hypoplasia of the nails	3981	LIG4	ORPHA:235
HP:0008386	Aplasia/Hypoplasia of the nails	54888	NSUN2	ORPHA:235
HP:0008386	Aplasia/Hypoplasia of the nails	9997	SCO2	OMIM:604377
HP:0008386	Aplasia/Hypoplasia of the nails	9894	TELO2	ORPHA:488642
HP:0008386	Aplasia/Hypoplasia of the nails	6804	STX1A	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	7461	CLIP2	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	84277	DNAJC30	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	8468	FKBP6	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	5982	RFC2	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	2969	GTF2I	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	3984	LIMK1	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	9569	GTF2IRD1	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	155382	VPS37D	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	155368	METTL27	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	114049	BUD23	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	7458	EIF4H	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	84163	GTF2IRD2	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	9275	BCL7B	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	26608	TBL2	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	653361	NCF1	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	135886	TMEM270	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	9031	BAZ1B	ORPHA:904
HP:0008386	Aplasia/Hypoplasia of the nails	3636	INPPL1	ORPHA:3144
HP:0008386	Aplasia/Hypoplasia of the nails	23169	SLC35D1	ORPHA:3144
HP:0008386	Aplasia/Hypoplasia of the nails	85358	SHANK3	OMIM:606232
HP:0008386	Aplasia/Hypoplasia of the nails	85358	SHANK3	ORPHA:48652
HP:0008386	Aplasia/Hypoplasia of the nails	23028	KDM1A	OMIM:616728
HP:0008386	Aplasia/Hypoplasia of the nails	23028	KDM1A	ORPHA:477993
HP:0008386	Aplasia/Hypoplasia of the nails	27125	AFF4	ORPHA:444077
HP:0008386	Aplasia/Hypoplasia of the nails	9496	TBX4	ORPHA:238578
HP:0008386	Aplasia/Hypoplasia of the nails	7750	ZMYM2	OMIM:619522
HP:0008386	Aplasia/Hypoplasia of the nails	79971	WLS	OMIM:619648
HP:0008386	Aplasia/Hypoplasia of the nails	6926	TBX3	ORPHA:3138
HP:0008386	Aplasia/Hypoplasia of the nails	79068	FTO	OMIM:612938
HP:0008386	Aplasia/Hypoplasia of the nails	7547	ZIC3	OMIM:306955
HP:0008386	Aplasia/Hypoplasia of the nails	1376	CPT2	OMIM:608836
HP:0008386	Aplasia/Hypoplasia of the nails	1984	EIF5A	OMIM:619376
HP:0008386	Aplasia/Hypoplasia of the nails	2260	FGFR1	OMIM:166250
HP:0008386	Aplasia/Hypoplasia of the nails	1801	DPH1	OMIM:616901
HP:0008386	Aplasia/Hypoplasia of the nails	1801	DPH1	ORPHA:459061
HP:0008386	Aplasia/Hypoplasia of the nails	26123	TCTN3	ORPHA:2753
HP:0008386	Aplasia/Hypoplasia of the nails	23512	SUZ12	ORPHA:3447
HP:0008386	Aplasia/Hypoplasia of the nails	2146	EZH2	ORPHA:3447
HP:0008386	Aplasia/Hypoplasia of the nails	3265	HRAS	ORPHA:3071
HP:0008386	Aplasia/Hypoplasia of the nails	5566	PRKACA	ORPHA:289
HP:0008386	Aplasia/Hypoplasia of the nails	5567	PRKACB	ORPHA:289
HP:0008386	Aplasia/Hypoplasia of the nails	2735	GLI1	ORPHA:289
HP:0008386	Aplasia/Hypoplasia of the nails	51626	DYNC2LI1	ORPHA:289
HP:0008386	Aplasia/Hypoplasia of the nails	8036	SHOC2	ORPHA:2701
HP:0008386	Aplasia/Hypoplasia of the nails	5500	PPP1CB	ORPHA:2701
HP:0008386	Aplasia/Hypoplasia of the nails	3861	KRT14	ORPHA:89838
HP:0008386	Aplasia/Hypoplasia of the nails	7476	WNT7A	OMIM:228930
HP:0008386	Aplasia/Hypoplasia of the nails	5339	PLEC	ORPHA:257
HP:0008386	Aplasia/Hypoplasia of the nails	6197	RPS6KA3	ORPHA:192
HP:0008386	Aplasia/Hypoplasia of the nails	51360	MBTPS2	ORPHA:2273
HP:0008386	Aplasia/Hypoplasia of the nails	57061	HYMAI	ORPHA:96191
HP:0008386	Aplasia/Hypoplasia of the nails	5325	PLAGL1	ORPHA:96191
HP:0008386	Aplasia/Hypoplasia of the nails	9791	PTDSS1	ORPHA:2658
HP:0008386	Aplasia/Hypoplasia of the nails	23556	PIGN	ORPHA:2059
HP:0008386	Aplasia/Hypoplasia of the nails	23556	PIGN	ORPHA:280633
HP:0008386	Aplasia/Hypoplasia of the nails	23219	FBXO28	OMIM:619777
HP:0008386	Aplasia/Hypoplasia of the nails	80152	CENPT	OMIM:618702
HP:0008386	Aplasia/Hypoplasia of the nails	8517	IKBKG	ORPHA:464
HP:0008386	Aplasia/Hypoplasia of the nails	9897	WASHC5	ORPHA:7
HP:0008386	Aplasia/Hypoplasia of the nails	28952	CCDC22	ORPHA:7
HP:0008386	Aplasia/Hypoplasia of the nails	7020	TFAP2A	OMIM:113620
HP:0008386	Aplasia/Hypoplasia of the nails	57465	TBC1D24	OMIM:220500
HP:0008386	Aplasia/Hypoplasia of the nails	117581	TWIST2	OMIM:200110
HP:0008386	Aplasia/Hypoplasia of the nails	1301	COL11A1	OMIM:228520
HP:0008386	Aplasia/Hypoplasia of the nails	1301	COL11A1	ORPHA:2021
HP:0008386	Aplasia/Hypoplasia of the nails	3481	IGF2	ORPHA:397590
HP:0008386	Aplasia/Hypoplasia of the nails	1028	CDKN1C	ORPHA:397590
HP:0008386	Aplasia/Hypoplasia of the nails	5324	PLAG1	ORPHA:397590
HP:0008386	Aplasia/Hypoplasia of the nails	8091	HMGA2	ORPHA:397590
HP:0008386	Aplasia/Hypoplasia of the nails	1302	COL11A2	ORPHA:2021
HP:0008386	Aplasia/Hypoplasia of the nails	58499	ZNF462	OMIM:618619
HP:0008386	Aplasia/Hypoplasia of the nails	168667	BMPER	OMIM:608022
HP:0008386	Aplasia/Hypoplasia of the nails	64840	PORCN	OMIM:305600
HP:0008386	Aplasia/Hypoplasia of the nails	1832	DSP	OMIM:609638
HP:0008386	Aplasia/Hypoplasia of the nails	1832	DSP	ORPHA:158687
HP:0008386	Aplasia/Hypoplasia of the nails	3728	JUP	ORPHA:158687
HP:0008386	Aplasia/Hypoplasia of the nails	613	BCR	ORPHA:261330
HP:0008386	Aplasia/Hypoplasia of the nails	1399	CRKL	ORPHA:261330
HP:0008386	Aplasia/Hypoplasia of the nails	5594	MAPK1	ORPHA:261330
HP:0008386	Aplasia/Hypoplasia of the nails	4038	LRP4	ORPHA:3258
HP:0008386	Aplasia/Hypoplasia of the nails	324	APC	ORPHA:3258
HP:0008386	Aplasia/Hypoplasia of the nails	9896	FIG4	OMIM:216340
HP:0008386	Aplasia/Hypoplasia of the nails	9896	FIG4	ORPHA:3472
HP:0008386	Aplasia/Hypoplasia of the nails	55697	VAC14	ORPHA:3472
HP:0008386	Aplasia/Hypoplasia of the nails	90416	CCDC32	OMIM:619123
HP:0008386	Aplasia/Hypoplasia of the nails	404672	GTF2H5	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	833	CARS1	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	7737	RNF113A	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	6897	TARS1	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	2071	ERCC3	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	2961	GTF2E2	ORPHA:33364
HP:0008386	Aplasia/Hypoplasia of the nails	9241	NOG	OMIM:186500
HP:0008386	Aplasia/Hypoplasia of the nails	6595	SMARCA2	OMIM:619293
HP:0008386	Aplasia/Hypoplasia of the nails	6473	SHOX	ORPHA:240
HP:0008386	Aplasia/Hypoplasia of the nails	80169	CTC1	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	26277	TINF2	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	79650	USB1	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	55135	WRAP53	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	51750	RTEL1	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	4869	NPM1	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	7012	TERC	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	5073	PARN	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	7015	TERT	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	1736	DKC1	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	7298	TYMS	ORPHA:1775
HP:0008386	Aplasia/Hypoplasia of the nails	3516	RBPJ	ORPHA:974
HP:0008386	Aplasia/Hypoplasia of the nails	4851	NOTCH1	ORPHA:974
HP:0008386	Aplasia/Hypoplasia of the nails	285203	EOGT	ORPHA:974
HP:0008386	Aplasia/Hypoplasia of the nails	54567	DLL4	ORPHA:974
HP:0008386	Aplasia/Hypoplasia of the nails	6418	SET	OMIM:618106
HP:0008386	Aplasia/Hypoplasia of the nails	5528	PPP2R5D	ORPHA:457279
HP:0008386	Aplasia/Hypoplasia of the nails	3852	KRT5	OMIM:131960
HP:0008386	Aplasia/Hypoplasia of the nails	6792	CDKL5	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	3736	KCNA1	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	9091	PIGQ	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	2775	GNAO1	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	81603	TRIM8	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	2902	GRIN1	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	79751	SLC25A22	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	150094	SIK1	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	8573	CASK	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	23312	DMXL2	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	2917	GRM7	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	170302	ARX	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	11284	PNKP	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	6326	SCN2A	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	51227	PIGP	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	6324	SCN1B	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	4761	NEUROD2	ORPHA:1934
HP:0008386	Aplasia/Hypoplasia of the nails	5281	PIGF	OMIM:619356
HP:0001798	Anonychia	5339	PLEC	OMIM:226730
HP:0001798	Anonychia	3691	ITGB4	OMIM:226730
HP:0001798	Anonychia	3691	ITGB4	ORPHA:79402
HP:0001798	Anonychia	29957	SLC25A24	OMIM:612289
HP:0001798	Anonychia	10804	GJB6	ORPHA:189
HP:0001798	Anonychia	3909	LAMA3	ORPHA:79404
HP:0001798	Anonychia	3909	LAMA3	ORPHA:79402
HP:0001798	Anonychia	3918	LAMC2	ORPHA:79404
HP:0001798	Anonychia	3918	LAMC2	ORPHA:79402
HP:0001798	Anonychia	3914	LAMB3	ORPHA:79404
HP:0001798	Anonychia	3914	LAMB3	ORPHA:79402
HP:0001798	Anonychia	4010	LMX1B	OMIM:161200
HP:0001798	Anonychia	1308	COL17A1	ORPHA:79406
HP:0001798	Anonychia	1308	COL17A1	ORPHA:79402
HP:0001798	Anonychia	4312	MMP1	ORPHA:79408
HP:0001798	Anonychia	4920	ROR2	OMIM:113000
HP:0001798	Anonychia	72	ACTG2	ORPHA:2604
HP:0001798	Anonychia	343637	RSPO4	OMIM:206800
HP:0001798	Anonychia	5932	RBBP8	OMIM:251255
HP:0001798	Anonychia	8626	TP63	OMIM:106260
HP:0001798	Anonychia	26137	ZBTB20	ORPHA:3042
HP:0001798	Anonychia	57492	ARID1B	OMIM:135900
HP:0001798	Anonychia	79977	GRHL2	OMIM:616029
HP:0001798	Anonychia	80326	WNT10A	OMIM:257980
HP:0001798	Anonychia	54101	RIPK4	OMIM:263650
HP:0001798	Anonychia	488	ATP2A2	ORPHA:79151
HP:0001798	Anonychia	2239	GPC4	OMIM:301026
HP:0001798	Anonychia	3861	KRT14	ORPHA:89838
HP:0001798	Anonychia	7476	WNT7A	OMIM:228930
HP:0001798	Anonychia	9896	FIG4	OMIM:216340
HP:0001798	Anonychia	64840	PORCN	OMIM:305600
HP:0001798	Anonychia	1832	DSP	OMIM:609638
HP:0001798	Anonychia	1832	DSP	ORPHA:158687
HP:0001798	Anonychia	1294	COL7A1	ORPHA:231568
HP:0001798	Anonychia	3728	JUP	ORPHA:158687
HP:0001798	Anonychia	613	BCR	ORPHA:261330
HP:0001798	Anonychia	1399	CRKL	ORPHA:261330
HP:0001798	Anonychia	5594	MAPK1	ORPHA:261330
HP:0001798	Anonychia	9241	NOG	ORPHA:140908
HP:0001798	Anonychia	526	ATP6V1B2	ORPHA:3473
HP:0001798	Anonychia	526	ATP6V1B2	ORPHA:79499
HP:0001798	Anonychia	526	ATP6V1B2	ORPHA:79500
HP:0001798	Anonychia	3756	KCNH1	ORPHA:3473
HP:0001798	Anonychia	3782	KCNN3	ORPHA:3473
HP:0001798	Anonychia	3516	RBPJ	ORPHA:974
HP:0001798	Anonychia	4851	NOTCH1	ORPHA:974
HP:0001798	Anonychia	57514	ARHGAP31	ORPHA:974
HP:0001798	Anonychia	57572	DOCK6	ORPHA:974
HP:0001798	Anonychia	285203	EOGT	ORPHA:974
HP:0001798	Anonychia	54567	DLL4	ORPHA:974
HP:0001798	Anonychia	4038	LRP4	ORPHA:3258
HP:0001798	Anonychia	324	APC	ORPHA:3258
HP:0001798	Anonychia	57465	TBC1D24	ORPHA:79500
HP:0001798	Anonychia	6792	CDKL5	ORPHA:1934
HP:0001798	Anonychia	3736	KCNA1	ORPHA:1934
HP:0001798	Anonychia	9091	PIGQ	ORPHA:1934
HP:0001798	Anonychia	2775	GNAO1	ORPHA:1934
HP:0001798	Anonychia	81603	TRIM8	ORPHA:1934
HP:0001798	Anonychia	2902	GRIN1	ORPHA:1934
HP:0001798	Anonychia	79751	SLC25A22	ORPHA:1934
HP:0001798	Anonychia	150094	SIK1	ORPHA:1934
HP:0001798	Anonychia	8573	CASK	ORPHA:1934
HP:0001798	Anonychia	23312	DMXL2	ORPHA:1934
HP:0001798	Anonychia	2917	GRM7	ORPHA:1934
HP:0001798	Anonychia	170302	ARX	ORPHA:1934
HP:0001798	Anonychia	11284	PNKP	ORPHA:1934
HP:0001798	Anonychia	6326	SCN2A	ORPHA:1934
HP:0001798	Anonychia	51227	PIGP	ORPHA:1934
HP:0001798	Anonychia	6324	SCN1B	ORPHA:1934
HP:0001798	Anonychia	4761	NEUROD2	ORPHA:1934
HP:0001798	Anonychia	8289	ARID1A	OMIM:614607
HP:0001798	Anonychia	5281	PIGF	OMIM:619356
HP:0008388	Abnormal toenail morphology	3981	LIG4	ORPHA:235
HP:0008388	Abnormal toenail morphology	54888	NSUN2	ORPHA:235
HP:0008388	Abnormal toenail morphology	9997	SCO2	OMIM:604377
HP:0008388	Abnormal toenail morphology	81607	NECTIN4	OMIM:613573
HP:0008388	Abnormal toenail morphology	9894	TELO2	ORPHA:488642
HP:0008388	Abnormal toenail morphology	6804	STX1A	ORPHA:904
HP:0008388	Abnormal toenail morphology	7461	CLIP2	ORPHA:904
HP:0008388	Abnormal toenail morphology	84277	DNAJC30	ORPHA:904
HP:0008388	Abnormal toenail morphology	8468	FKBP6	ORPHA:904
HP:0008388	Abnormal toenail morphology	5982	RFC2	ORPHA:904
HP:0008388	Abnormal toenail morphology	2969	GTF2I	ORPHA:904
HP:0008388	Abnormal toenail morphology	3984	LIMK1	ORPHA:904
HP:0008388	Abnormal toenail morphology	9569	GTF2IRD1	ORPHA:904
HP:0008388	Abnormal toenail morphology	155382	VPS37D	ORPHA:904
HP:0008388	Abnormal toenail morphology	155368	METTL27	ORPHA:904
HP:0008388	Abnormal toenail morphology	114049	BUD23	ORPHA:904
HP:0008388	Abnormal toenail morphology	7458	EIF4H	ORPHA:904
HP:0008388	Abnormal toenail morphology	84163	GTF2IRD2	ORPHA:904
HP:0008388	Abnormal toenail morphology	9275	BCL7B	ORPHA:904
HP:0008388	Abnormal toenail morphology	26608	TBL2	ORPHA:904
HP:0008388	Abnormal toenail morphology	653361	NCF1	ORPHA:904
HP:0008388	Abnormal toenail morphology	135886	TMEM270	ORPHA:904
HP:0008388	Abnormal toenail morphology	51085	MLXIPL	ORPHA:904
HP:0008388	Abnormal toenail morphology	9031	BAZ1B	ORPHA:904
HP:0008388	Abnormal toenail morphology	2006	ELN	ORPHA:904
HP:0008388	Abnormal toenail morphology	3636	INPPL1	ORPHA:3144
HP:0008388	Abnormal toenail morphology	23169	SLC35D1	ORPHA:3144
HP:0008388	Abnormal toenail morphology	23028	KDM1A	OMIM:616728
HP:0008388	Abnormal toenail morphology	23028	KDM1A	ORPHA:477993
HP:0008388	Abnormal toenail morphology	9496	TBX4	ORPHA:238578
HP:0008388	Abnormal toenail morphology	7750	ZMYM2	OMIM:619522
HP:0008388	Abnormal toenail morphology	54101	RIPK4	ORPHA:1234
HP:0008388	Abnormal toenail morphology	4953	ODC1	ORPHA:544488
HP:0008388	Abnormal toenail morphology	79971	WLS	OMIM:619648
HP:0008388	Abnormal toenail morphology	6926	TBX3	ORPHA:3138
HP:0008388	Abnormal toenail morphology	79068	FTO	OMIM:612938
HP:0008388	Abnormal toenail morphology	7547	ZIC3	OMIM:306955
HP:0008388	Abnormal toenail morphology	1376	CPT2	OMIM:608836
HP:0008388	Abnormal toenail morphology	1984	EIF5A	OMIM:619376
HP:0008388	Abnormal toenail morphology	2260	FGFR1	OMIM:166250
HP:0008388	Abnormal toenail morphology	1801	DPH1	OMIM:616901
HP:0008388	Abnormal toenail morphology	1801	DPH1	ORPHA:459061
HP:0008388	Abnormal toenail morphology	26123	TCTN3	ORPHA:2753
HP:0008388	Abnormal toenail morphology	64324	NSD1	ORPHA:3447
HP:0008388	Abnormal toenail morphology	8726	EED	ORPHA:3447
HP:0008388	Abnormal toenail morphology	23512	SUZ12	ORPHA:3447
HP:0008388	Abnormal toenail morphology	2146	EZH2	ORPHA:3447
HP:0008388	Abnormal toenail morphology	3265	HRAS	ORPHA:3071
HP:0008388	Abnormal toenail morphology	5566	PRKACA	ORPHA:289
HP:0008388	Abnormal toenail morphology	5567	PRKACB	ORPHA:289
HP:0008388	Abnormal toenail morphology	2735	GLI1	ORPHA:289
HP:0008388	Abnormal toenail morphology	51626	DYNC2LI1	ORPHA:289
HP:0008388	Abnormal toenail morphology	1301	COL11A1	OMIM:228520
HP:0008388	Abnormal toenail morphology	8036	SHOC2	ORPHA:2701
HP:0008388	Abnormal toenail morphology	5500	PPP1CB	ORPHA:2701
HP:0008388	Abnormal toenail morphology	64840	PORCN	OMIM:305600
HP:0008388	Abnormal toenail morphology	1832	DSP	ORPHA:158687
HP:0008388	Abnormal toenail morphology	3728	JUP	ORPHA:158687
HP:0008388	Abnormal toenail morphology	613	BCR	ORPHA:261330
HP:0008388	Abnormal toenail morphology	1399	CRKL	ORPHA:261330
HP:0008388	Abnormal toenail morphology	5594	MAPK1	ORPHA:261330
HP:0008388	Abnormal toenail morphology	7476	WNT7A	OMIM:228930
HP:0008388	Abnormal toenail morphology	3782	KCNN3	OMIM:618658
HP:0008388	Abnormal toenail morphology	4038	LRP4	ORPHA:3258
HP:0008388	Abnormal toenail morphology	324	APC	ORPHA:3258
HP:0008388	Abnormal toenail morphology	6335	SCN9A	ORPHA:970
HP:0008388	Abnormal toenail morphology	65125	WNK1	ORPHA:970
HP:0008388	Abnormal toenail morphology	54463	RETREG1	ORPHA:970
HP:0008388	Abnormal toenail morphology	547	KIF1A	ORPHA:970
HP:0008388	Abnormal toenail morphology	54800	KLHL24	OMIM:617294
HP:0008388	Abnormal toenail morphology	121391	KRT74	OMIM:614929
HP:0008388	Abnormal toenail morphology	7879	RAB7A	OMIM:600882
HP:0008388	Abnormal toenail morphology	4000	LMNA	ORPHA:740
HP:0008388	Abnormal toenail morphology	10269	ZMPSTE24	ORPHA:740
HP:0008388	Abnormal toenail morphology	64065	PERP	OMIM:619209
HP:0008388	Abnormal toenail morphology	860	RUNX2	ORPHA:1452
HP:0008388	Abnormal toenail morphology	667	DST	OMIM:615425
HP:0008388	Abnormal toenail morphology	5818	NECTIN1	ORPHA:3253
HP:0008388	Abnormal toenail morphology	1308	COL17A1	ORPHA:251393
HP:0008388	Abnormal toenail morphology	3691	ITGB4	ORPHA:251393
HP:0008388	Abnormal toenail morphology	2706	GJB2	ORPHA:494
HP:0008388	Abnormal toenail morphology	55612	FERMT1	ORPHA:2908
HP:0008388	Abnormal toenail morphology	22930	RAB3GAP1	ORPHA:1387
HP:0008388	Abnormal toenail morphology	25782	RAB3GAP2	ORPHA:1387
HP:0008388	Abnormal toenail morphology	25782	RAB3GAP2	OMIM:212720
HP:0008388	Abnormal toenail morphology	57688	ZSWIM6	ORPHA:1827
HP:0008388	Abnormal toenail morphology	5189	PEX1	ORPHA:3220
HP:0008388	Abnormal toenail morphology	5190	PEX6	ORPHA:3220
HP:0008388	Abnormal toenail morphology	128178	EDARADD	ORPHA:248
HP:0008388	Abnormal toenail morphology	80326	WNT10A	ORPHA:248
HP:0008388	Abnormal toenail morphology	10913	EDAR	ORPHA:248
HP:0008388	Abnormal toenail morphology	1476	CSTB	ORPHA:248
HP:0008388	Abnormal toenail morphology	83550	GPR101	ORPHA:963
HP:0008388	Abnormal toenail morphology	9049	AIP	ORPHA:963
HP:0008388	Abnormal toenail morphology	8517	IKBKG	ORPHA:464
HP:0008388	Abnormal toenail morphology	27125	AFF4	ORPHA:444077
HP:0008388	Abnormal toenail morphology	7372	UMPS	ORPHA:30
HP:0008388	Abnormal toenail morphology	1294	COL7A1	ORPHA:89843
HP:0008388	Abnormal toenail morphology	1294	COL7A1	ORPHA:79410
HP:0008388	Abnormal toenail morphology	84818	IL17RC	ORPHA:1334
HP:0008388	Abnormal toenail morphology	64581	CLEC7A	ORPHA:1334
HP:0008388	Abnormal toenail morphology	23765	IL17RA	ORPHA:1334
HP:0008388	Abnormal toenail morphology	10758	TRAF3IP2	ORPHA:1334
HP:0008388	Abnormal toenail morphology	112744	IL17F	ORPHA:1334
HP:0008388	Abnormal toenail morphology	3832	KIF11	ORPHA:2526
HP:0008388	Abnormal toenail morphology	5333	PLCD1	ORPHA:2387
HP:0008388	Abnormal toenail morphology	57539	WDR35	ORPHA:1515
HP:0008388	Abnormal toenail morphology	112752	IFT43	ORPHA:1515
HP:0008388	Abnormal toenail morphology	51098	IFT52	ORPHA:1515
HP:0008388	Abnormal toenail morphology	55764	IFT122	ORPHA:1515
HP:0008388	Abnormal toenail morphology	57728	WDR19	ORPHA:1515
HP:0008388	Abnormal toenail morphology	9241	NOG	OMIM:186500
HP:0008388	Abnormal toenail morphology	6595	SMARCA2	OMIM:619293
HP:0008388	Abnormal toenail morphology	6473	SHOX	ORPHA:240
HP:0008388	Abnormal toenail morphology	8200	GDF5	OMIM:228900
HP:0008388	Abnormal toenail morphology	80169	CTC1	ORPHA:1775
HP:0008388	Abnormal toenail morphology	26277	TINF2	ORPHA:1775
HP:0008388	Abnormal toenail morphology	55651	NHP2	ORPHA:1775
HP:0008388	Abnormal toenail morphology	79650	USB1	ORPHA:1775
HP:0008388	Abnormal toenail morphology	55135	WRAP53	ORPHA:1775
HP:0008388	Abnormal toenail morphology	51750	RTEL1	ORPHA:1775
HP:0008388	Abnormal toenail morphology	4869	NPM1	ORPHA:1775
HP:0008388	Abnormal toenail morphology	7012	TERC	ORPHA:1775
HP:0008388	Abnormal toenail morphology	55505	NOP10	ORPHA:1775
HP:0008388	Abnormal toenail morphology	5073	PARN	ORPHA:1775
HP:0008388	Abnormal toenail morphology	7015	TERT	ORPHA:1775
HP:0008388	Abnormal toenail morphology	1736	DKC1	ORPHA:1775
HP:0008388	Abnormal toenail morphology	7298	TYMS	ORPHA:1775
HP:0008388	Abnormal toenail morphology	150468	CKAP2L	ORPHA:3255
HP:0008388	Abnormal toenail morphology	2239	GPC4	ORPHA:2662
HP:0008388	Abnormal toenail morphology	3516	RBPJ	ORPHA:974
HP:0008388	Abnormal toenail morphology	4851	NOTCH1	ORPHA:974
HP:0008388	Abnormal toenail morphology	57514	ARHGAP31	ORPHA:974
HP:0008388	Abnormal toenail morphology	57572	DOCK6	ORPHA:974
HP:0008388	Abnormal toenail morphology	285203	EOGT	ORPHA:974
HP:0008388	Abnormal toenail morphology	54567	DLL4	ORPHA:974
HP:0008388	Abnormal toenail morphology	3756	KCNH1	ORPHA:420561
HP:0008388	Abnormal toenail morphology	6597	SMARCA4	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6598	SMARCB1	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6659	SOX4	ORPHA:1465
HP:0008388	Abnormal toenail morphology	8289	ARID1A	ORPHA:1465
HP:0008388	Abnormal toenail morphology	5977	DPF2	ORPHA:1465
HP:0008388	Abnormal toenail morphology	5977	DPF2	OMIM:618027
HP:0008388	Abnormal toenail morphology	6601	SMARCC2	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6602	SMARCD1	ORPHA:1465
HP:0008388	Abnormal toenail morphology	57492	ARID1B	ORPHA:1465
HP:0008388	Abnormal toenail morphology	196528	ARID2	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6605	SMARCE1	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6664	SOX11	ORPHA:1465
HP:0008388	Abnormal toenail morphology	6664	SOX11	OMIM:615866
HP:0008388	Abnormal toenail morphology	6418	SET	OMIM:618106
HP:0008388	Abnormal toenail morphology	5528	PPP2R5D	ORPHA:457279
HP:0008388	Abnormal toenail morphology	3209	HOXA13	ORPHA:2438
HP:0008388	Abnormal toenail morphology	3852	KRT5	OMIM:131960
HP:0008388	Abnormal toenail morphology	4487	MSX1	ORPHA:2228
HP:0008388	Abnormal toenail morphology	3861	KRT14	ORPHA:69087
HP:0008388	Abnormal toenail morphology	526	ATP6V1B2	ORPHA:79500
HP:0008388	Abnormal toenail morphology	57465	TBC1D24	ORPHA:79500
HP:0008388	Abnormal toenail morphology	2324	FLT4	OMIM:153100
HP:0008388	Abnormal toenail morphology	727857	BHLHA9	OMIM:607539
HP:0008388	Abnormal toenail morphology	6872	TAF1	OMIM:300966
HP:0008388	Abnormal toenail morphology	650	BMP2	OMIM:617877
HP:0008388	Abnormal toenail morphology	4010	LMX1B	ORPHA:2614
HP:0008388	Abnormal toenail morphology	8626	TP63	ORPHA:978
HP:0008388	Abnormal toenail morphology	85358	SHANK3	OMIM:606232
HP:0008388	Abnormal toenail morphology	57165	GJC2	ORPHA:79452
HP:0008388	Abnormal toenail morphology	2121	EVC	ORPHA:952
HP:0008388	Abnormal toenail morphology	132884	EVC2	ORPHA:952
HP:0008388	Abnormal toenail morphology	7424	VEGFC	OMIM:615907
HP:0008388	Abnormal toenail morphology	5281	PIGF	OMIM:619356
HP:0034241	Prenatal death	3930	LBR	OMIM:215140
HP:0034241	Prenatal death	8200	GDF5	OMIM:200700
HP:0034241	Prenatal death	9321	TRIP11	OMIM:200600
HP:0034241	Prenatal death	7490	WT1	OMIM:608978
HP:0034241	Prenatal death	1836	SLC26A2	OMIM:600972
HP:0034241	Prenatal death	1836	SLC26A2	OMIM:256050
HP:0034241	Prenatal death	3572	IL6ST	OMIM:619751
HP:0034241	Prenatal death	1280	COL2A1	OMIM:151210
HP:0034241	Prenatal death	1280	COL2A1	OMIM:200610
HP:0034241	Prenatal death	4593	MUSK	OMIM:208150
HP:0034241	Prenatal death	153241	CEP120	OMIM:616300
HP:0034241	Prenatal death	2629	GBA1	ORPHA:85212
HP:0034241	Prenatal death	50814	NSDHL	OMIM:308050
HP:0034241	Prenatal death	100151683	RNU4ATAC	OMIM:210710
HP:0034241	Prenatal death	55005	RMND1	OMIM:614922
HP:0034241	Prenatal death	284086	NEK8	OMIM:615415
HP:0034241	Prenatal death	1063	CENPF	OMIM:243605
HP:0034241	Prenatal death	10269	ZMPSTE24	OMIM:275210
HP:0034241	Prenatal death	55165	CEP55	OMIM:236500
HP:0034241	Prenatal death	219844	HYLS1	OMIM:236680
HP:0034241	Prenatal death	5745	PTH1R	OMIM:215045
HP:0034241	Prenatal death	2317	FLNB	OMIM:108720
HP:0034241	Prenatal death	5447	POR	ORPHA:95699
HP:0034241	Prenatal death	28962	OSTM1	OMIM:259720
HP:0034241	Prenatal death	157570	ESCO2	OMIM:268300
HP:0034241	Prenatal death	10203	CALCRL	OMIM:618773
HP:0034241	Prenatal death	249	ALPL	OMIM:241500
HP:0034241	Prenatal death	5307	PITX1	OMIM:119800
HP:0034241	Prenatal death	1301	COL11A1	OMIM:228520
HP:0034241	Prenatal death	23426	GRIP1	OMIM:617667
HP:0034241	Prenatal death	2316	FLNA	OMIM:309350
HP:0034241	Prenatal death	2316	FLNA	OMIM:304120
HP:0034241	Prenatal death	163175	LGI4	OMIM:617468
HP:0034241	Prenatal death	23169	SLC35D1	OMIM:269250
HP:0034241	Prenatal death	26227	PHGDH	OMIM:256520
HP:0034241	Prenatal death	4352	MPL	ORPHA:71493
HP:0034241	Prenatal death	7066	THPO	ORPHA:71493
HP:0034241	Prenatal death	3717	JAK2	ORPHA:71493
HP:0034241	Prenatal death	2215	FCGR3B	ORPHA:464370
HP:0034241	Prenatal death	2022	ENG	OMIM:187300
HP:0034241	Prenatal death	199713	NLRP7	OMIM:231090
HP:0034241	Prenatal death	5889	RAD51C	OMIM:613390
HP:0034241	Prenatal death	4256	MGP	OMIM:245150
HP:0034241	Prenatal death	283677	REC114	OMIM:619176
HP:0034241	Prenatal death	7468	NSD2	OMIM:619695
HP:0034241	Prenatal death	3043	HBB	ORPHA:2133
HP:0034241	Prenatal death	5346	PLIN1	OMIM:613877
HP:0034241	Prenatal death	462	SERPINC1	ORPHA:82
HP:0034241	Prenatal death	2055	CLN8	ORPHA:1947
HP:0034241	Prenatal death	7486	WRN	ORPHA:902
HP:0034241	Prenatal death	274	BIN1	ORPHA:169189
HP:0034241	Prenatal death	64419	MTMR14	ORPHA:169189
HP:0034241	Prenatal death	4618	MYF6	ORPHA:169189
HP:0034241	Prenatal death	1785	DNM2	ORPHA:169189
HP:0034241	Prenatal death	6261	RYR1	ORPHA:169189
HP:0034241	Prenatal death	3209	HOXA13	ORPHA:2438
HP:0034241	Prenatal death	3339	HSPG2	ORPHA:1865
HP:0034241	Prenatal death	2243	FGA	ORPHA:98880
HP:0034241	Prenatal death	2244	FGB	ORPHA:98880
HP:0034241	Prenatal death	2266	FGG	ORPHA:98880
HP:0034241	Prenatal death	5054	SERPINE1	ORPHA:465
HP:0034241	Prenatal death	213	ALB	ORPHA:86816
HP:0034241	Prenatal death	388015	RTL1	ORPHA:96334
HP:0034241	Prenatal death	8788	DLK1	ORPHA:96334
HP:0034241	Prenatal death	55384	MEG3	ORPHA:96334
HP:0034241	Prenatal death	6005	RHAG	ORPHA:71275
HP:0034241	Prenatal death	6006	RHCE	ORPHA:71275
HP:0034241	Prenatal death	6007	RHD	ORPHA:71275
HP:0034241	Prenatal death	4927	NUP88	OMIM:618393
HP:0034242	Abnormal fetal genitourinary system morphology	2258	FGF13	OMIM:301058
HP:0034242	Abnormal fetal genitourinary system morphology	284058	KANSL1	ORPHA:363965
HP:0034242	Abnormal fetal genitourinary system morphology	284058	KANSL1	ORPHA:363958
HP:0034242	Abnormal fetal genitourinary system morphology	9578	CDC42BPB	OMIM:619841
HP:0034242	Abnormal fetal genitourinary system morphology	1182	CLCN3	OMIM:619512
HP:0034242	Abnormal fetal genitourinary system morphology	5297	PI4KA	OMIM:616531
HP:0034242	Abnormal fetal genitourinary system morphology	10398	MYL9	OMIM:619365
HP:0034242	Abnormal fetal genitourinary system morphology	93627	TBCK	OMIM:616900
HP:0034242	Abnormal fetal genitourinary system morphology	10472	ZBTB18	OMIM:612337
HP:0034242	Abnormal fetal genitourinary system morphology	54796	BNC2	ORPHA:93110
HP:0034242	Abnormal fetal genitourinary system morphology	2271	FH	OMIM:606812
HP:0034242	Abnormal fetal genitourinary system morphology	5277	PIGA	OMIM:300868
HP:0034242	Abnormal fetal genitourinary system morphology	23426	GRIP1	OMIM:617667
HP:0034242	Abnormal fetal genitourinary system morphology	27077	B9D1	OMIM:614209
HP:0034243	Abnormal fetal pulmonary morphology	5297	PI4KA	ORPHA:436252
HP:0034243	Abnormal fetal pulmonary morphology	57217	TTC7A	ORPHA:436252
HP:0034243	Abnormal fetal pulmonary morphology	57217	TTC7A	OMIM:243150
HP:0034243	Abnormal fetal pulmonary morphology	54361	WNT4	OMIM:611812
HP:0034243	Abnormal fetal pulmonary morphology	4927	NUP88	OMIM:618393
HP:0034243	Abnormal fetal pulmonary morphology	29969	MDFIC	OMIM:620014
HP:0034243	Abnormal fetal pulmonary morphology	55901	THSD1	OMIM:620244
HP:0034243	Abnormal fetal pulmonary morphology	54675	CRLS1	OMIM:620167
HP:0034243	Abnormal fetal pulmonary morphology	6007	RHD	OMIM:619462
HP:0034249	Severe influenza infection	3665	IRF7	OMIM:616345
HP:0034249	Severe influenza infection	54440	SASH3	OMIM:301082
HP:0008390	Recurrent loss of toenails and fingernails	1294	COL7A1	ORPHA:231568
HP:0008390	Recurrent loss of toenails and fingernails	1294	COL7A1	ORPHA:158673
HP:0008390	Recurrent loss of toenails and fingernails	3909	LAMA3	OMIM:245660
HP:0008392	Subungual hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0008392	Subungual hyperkeratosis	51360	MBTPS2	OMIM:308205
HP:0008392	Subungual hyperkeratosis	126695	KDF1	OMIM:617337
HP:0008392	Subungual hyperkeratosis	79092	CARD14	OMIM:173200
HP:0008392	Subungual hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0008392	Subungual hyperkeratosis	3861	KRT14	ORPHA:69087
HP:0008392	Subungual hyperkeratosis	3728	JUP	OMIM:601214
HP:0008392	Subungual hyperkeratosis	3872	KRT17	OMIM:167210
HP:0008392	Subungual hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0008391	Dystrophic fingernails	6335	SCN9A	ORPHA:970
HP:0008391	Dystrophic fingernails	65125	WNK1	ORPHA:970
HP:0008391	Dystrophic fingernails	54463	RETREG1	ORPHA:970
HP:0008391	Dystrophic fingernails	547	KIF1A	ORPHA:970
HP:0008391	Dystrophic fingernails	5317	PKP1	OMIM:604536
HP:0008391	Dystrophic fingernails	80326	WNT10A	OMIM:150400
HP:0008391	Dystrophic fingernails	80326	WNT10A	OMIM:257980
HP:0008391	Dystrophic fingernails	6774	STAT3	ORPHA:2314
HP:0008391	Dystrophic fingernails	5604	MAP2K1	ORPHA:1340
HP:0008391	Dystrophic fingernails	5605	MAP2K2	ORPHA:1340
HP:0008391	Dystrophic fingernails	3845	KRAS	ORPHA:1340
HP:0008391	Dystrophic fingernails	673	BRAF	ORPHA:1340
HP:0008391	Dystrophic fingernails	404672	GTF2H5	ORPHA:33364
HP:0008391	Dystrophic fingernails	833	CARS1	ORPHA:33364
HP:0008391	Dystrophic fingernails	2068	ERCC2	ORPHA:33364
HP:0008391	Dystrophic fingernails	7737	RNF113A	ORPHA:33364
HP:0008391	Dystrophic fingernails	136647	MPLKIP	ORPHA:33364
HP:0008391	Dystrophic fingernails	6897	TARS1	ORPHA:33364
HP:0008391	Dystrophic fingernails	2071	ERCC3	ORPHA:33364
HP:0008391	Dystrophic fingernails	2961	GTF2E2	ORPHA:33364
HP:0008391	Dystrophic fingernails	121391	KRT74	OMIM:614929
HP:0008391	Dystrophic fingernails	4000	LMNA	ORPHA:740
HP:0008391	Dystrophic fingernails	10269	ZMPSTE24	ORPHA:740
HP:0008391	Dystrophic fingernails	51360	MBTPS2	OMIM:308800
HP:0008391	Dystrophic fingernails	51360	MBTPS2	OMIM:308205
HP:0008391	Dystrophic fingernails	26137	ZBTB20	OMIM:259050
HP:0008391	Dystrophic fingernails	3106	HLA-B	ORPHA:29207
HP:0008391	Dystrophic fingernails	1294	COL7A1	ORPHA:231568
HP:0008391	Dystrophic fingernails	1294	COL7A1	ORPHA:158676
HP:0008391	Dystrophic fingernails	1294	COL7A1	ORPHA:158673
HP:0008391	Dystrophic fingernails	1308	COL17A1	OMIM:619787
HP:0008391	Dystrophic fingernails	1308	COL17A1	ORPHA:251393
HP:0008391	Dystrophic fingernails	860	RUNX2	ORPHA:1452
HP:0008391	Dystrophic fingernails	3248	HPGD	ORPHA:217059
HP:0008391	Dystrophic fingernails	5818	NECTIN1	ORPHA:3253
HP:0008391	Dystrophic fingernails	3691	ITGB4	ORPHA:251393
HP:0008394	Congenital onychodystrophy	3891	KRT85	OMIM:602032
HP:0008396	Chronic monilial nail infection	6720	SREBF1	OMIM:158310
HP:0008396	Chronic monilial nail infection	6868	ADAM17	ORPHA:294023
HP:0008396	Chronic monilial nail infection	1956	EGFR	ORPHA:294023
HP:0008401	Onychogryposis of toenails	5339	PLEC	OMIM:131950
HP:0008401	Onychogryposis of toenails	1294	COL7A1	ORPHA:158676
HP:0008401	Onychogryposis of toenails	3853	KRT6A	OMIM:615726
HP:0008401	Onychogryposis of toenails	3853	KRT6A	ORPHA:2309
HP:0008401	Onychogryposis of toenails	3868	KRT16	ORPHA:2309
HP:0008401	Onychogryposis of toenails	3872	KRT17	ORPHA:2309
HP:0008401	Onychogryposis of toenails	3854	KRT6B	ORPHA:2309
HP:0008401	Onychogryposis of toenails	54800	KLHL24	OMIM:617294
HP:0008398	Hypoplastic fifth fingernail	6597	SMARCA4	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6598	SMARCB1	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6659	SOX4	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	8289	ARID1A	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	5977	DPF2	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6601	SMARCC2	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6602	SMARCD1	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	57492	ARID1B	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	57492	ARID1B	OMIM:135900
HP:0008398	Hypoplastic fifth fingernail	196528	ARID2	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6605	SMARCE1	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6664	SOX11	ORPHA:1465
HP:0008398	Hypoplastic fifth fingernail	6664	SOX11	OMIM:615866
HP:0008398	Hypoplastic fifth fingernail	27315	PGAP2	OMIM:614207
HP:0008398	Hypoplastic fifth fingernail	5281	PIGF	OMIM:619356
HP:0008398	Hypoplastic fifth fingernail	3516	RBPJ	OMIM:614814
HP:0034250	Fetal nuchal edema	6925	TCF4	OMIM:610954
HP:0034251	Abnormal corneal reflex	85446	ZFHX2	OMIM:147430
HP:0034251	Abnormal corneal reflex	8518	ELP1	OMIM:223900
HP:0034251	Abnormal corneal reflex	4914	NTRK1	ORPHA:642
HP:0034251	Abnormal corneal reflex	54463	RETREG1	OMIM:201300
HP:0034251	Abnormal corneal reflex	65125	WNK1	OMIM:201300
HP:0034251	Abnormal corneal reflex	6335	SCN9A	OMIM:201300
HP:0034251	Abnormal corneal reflex	547	KIF1A	OMIM:201300
HP:0034251	Abnormal corneal reflex	440138	ALG11	ORPHA:280071
HP:0034251	Abnormal corneal reflex	8218	CLTCL1	ORPHA:453510
HP:0034251	Abnormal corneal reflex	667	DST	OMIM:614653
HP:0034251	Abnormal corneal reflex	3977	LIFR	OMIM:601559
HP:0034252	Absent corneal reflex	667	DST	OMIM:614653
HP:0034252	Absent corneal reflex	3977	LIFR	OMIM:601559
HP:0034253	Eosinophil nuclear hypersegmentation	8288	EPX	OMIM:261500
HP:0034254	Face of the giant panda sign	540	ATP7B	OMIM:277900
HP:0034258	Aplasia/Hypoplasia of the midbrain	2972	BRF1	OMIM:616202
HP:0034259	Hypoplasia of the midbrain	2972	BRF1	OMIM:616202
HP:4000169	Pontine T2 hypointensity	26278	SACS	OMIM:270550
HP:4000166	Post-vaccination varicella zoster virus infection	11151	CORO1A	OMIM:615401
HP:4000165	Decreased circulating plasmalogen concentration	8443	GNPAT	OMIM:222765
HP:4000163	Decreased phytanoyl-CoA hydroxylase activity	5191	PEX7	OMIM:266500
HP:4000163	Decreased phytanoyl-CoA hydroxylase activity	5264	PHYH	OMIM:266500
HP:4000158	Typified by high penetrance	4091	SMAD6	OMIM:614823
HP:4000150	Multinucleated neuron	55165	CEP55	OMIM:236500
HP:4000148	Portal artery hyperplasia	10112	KIF20A	OMIM:619433
HP:4000147	Abnormal portal artery morphology	10112	KIF20A	OMIM:619433
HP:0034260	Aplastic zygomatic arch	117581	TWIST2	OMIM:200110
HP:0034260	Aplastic zygomatic arch	25885	POLR1A	OMIM:616462
HP:0034261	Aplasia/Hypoplasia of facial bones	9896	FIG4	OMIM:216340
HP:0034261	Aplasia/Hypoplasia of facial bones	54808	DYM	OMIM:223800
HP:0034261	Aplasia/Hypoplasia of facial bones	54808	DYM	OMIM:607326
HP:0034261	Aplasia/Hypoplasia of facial bones	11128	POLR3A	OMIM:264090
HP:0034261	Aplasia/Hypoplasia of facial bones	153241	CEP120	OMIM:616300
HP:0034261	Aplasia/Hypoplasia of facial bones	4000	LMNA	OMIM:619793
HP:0034261	Aplasia/Hypoplasia of facial bones	10992	SF3B2	OMIM:164210
HP:0034261	Aplasia/Hypoplasia of facial bones	2260	FGFR1	OMIM:615465
HP:0034261	Aplasia/Hypoplasia of facial bones	4524	MTHFR	ORPHA:563612
HP:0034261	Aplasia/Hypoplasia of facial bones	57216	VANGL2	ORPHA:563612
HP:0034261	Aplasia/Hypoplasia of facial bones	8092	ALX1	ORPHA:306542
HP:0034261	Aplasia/Hypoplasia of facial bones	5727	PTCH1	OMIM:610828
HP:0034261	Aplasia/Hypoplasia of facial bones	2736	GLI2	OMIM:610829
HP:0034261	Aplasia/Hypoplasia of facial bones	64093	SMOC1	ORPHA:1106
HP:0034261	Aplasia/Hypoplasia of facial bones	1896	EDA	OMIM:313500
HP:0034261	Aplasia/Hypoplasia of facial bones	23019	CNOT1	ORPHA:556955
HP:0034261	Aplasia/Hypoplasia of facial bones	23019	CNOT1	OMIM:618500
HP:0034261	Aplasia/Hypoplasia of facial bones	157680	VPS13B	ORPHA:193
HP:0034261	Aplasia/Hypoplasia of facial bones	51594	NBAS	OMIM:614800
HP:0034261	Aplasia/Hypoplasia of facial bones	6804	STX1A	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	7461	CLIP2	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	84277	DNAJC30	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	8468	FKBP6	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	5982	RFC2	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	2969	GTF2I	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	3984	LIMK1	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	9569	GTF2IRD1	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	155382	VPS37D	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	155368	METTL27	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	114049	BUD23	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	7458	EIF4H	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	84163	GTF2IRD2	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	9275	BCL7B	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	26608	TBL2	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	653361	NCF1	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	135886	TMEM270	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	51085	MLXIPL	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	9031	BAZ1B	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	2006	ELN	ORPHA:904
HP:0034261	Aplasia/Hypoplasia of facial bones	5604	MAP2K1	ORPHA:1340
HP:0034261	Aplasia/Hypoplasia of facial bones	5605	MAP2K2	ORPHA:1340
HP:0034261	Aplasia/Hypoplasia of facial bones	3845	KRAS	ORPHA:1340
HP:0034261	Aplasia/Hypoplasia of facial bones	673	BRAF	ORPHA:1340
HP:0034261	Aplasia/Hypoplasia of facial bones	8481	OFD1	ORPHA:2750
HP:0034261	Aplasia/Hypoplasia of facial bones	5184	PEPD	ORPHA:742
HP:0034261	Aplasia/Hypoplasia of facial bones	51082	POLR1D	OMIM:613717
HP:0034261	Aplasia/Hypoplasia of facial bones	51082	POLR1D	ORPHA:861
HP:0034261	Aplasia/Hypoplasia of facial bones	117581	TWIST2	ORPHA:920
HP:0034261	Aplasia/Hypoplasia of facial bones	117581	TWIST2	OMIM:200110
HP:0034261	Aplasia/Hypoplasia of facial bones	10262	SF3B4	ORPHA:245
HP:0034261	Aplasia/Hypoplasia of facial bones	84172	POLR1B	ORPHA:861
HP:0034261	Aplasia/Hypoplasia of facial bones	9533	POLR1C	ORPHA:861
HP:0034261	Aplasia/Hypoplasia of facial bones	9533	POLR1C	OMIM:248390
HP:0034261	Aplasia/Hypoplasia of facial bones	6949	TCOF1	ORPHA:861
HP:0034261	Aplasia/Hypoplasia of facial bones	1301	COL11A1	ORPHA:560
HP:0034261	Aplasia/Hypoplasia of facial bones	2263	FGFR2	ORPHA:1555
HP:0034261	Aplasia/Hypoplasia of facial bones	860	RUNX2	ORPHA:1452
HP:0034261	Aplasia/Hypoplasia of facial bones	5818	NECTIN1	ORPHA:3253
HP:0034261	Aplasia/Hypoplasia of facial bones	4853	NOTCH2	ORPHA:955
HP:0034261	Aplasia/Hypoplasia of facial bones	55636	CHD7	ORPHA:138
HP:0034261	Aplasia/Hypoplasia of facial bones	9723	SEMA3E	ORPHA:138
HP:0034261	Aplasia/Hypoplasia of facial bones	6496	SIX3	OMIM:157170
HP:0034262	Absent lanugo	117581	TWIST2	OMIM:200110
HP:4000184	Reduced erythrocyte adenosine triphosphate concentration	2623	GATA1	OMIM:301083
HP:4000183	Abnormal erythrocyte adenosine triphosphate concentration	2623	GATA1	OMIM:301083
HP:0034270	Serrated incisors	150468	CKAP2L	OMIM:272440
HP:0034271	Copper beaten skull	8318	CDC45	OMIM:617063
HP:0034271	Copper beaten skull	4052	LTBP1	OMIM:619451
HP:0034272	Perifoveal hypoautofluorescence	6103	RPGR	OMIM:300029
HP:0034272	Perifoveal hypoautofluorescence	55857	KIZ	OMIM:615780
HP:0034273	Premature sagging cheeks	5831	PYCR1	OMIM:612940
HP:0034273	Premature sagging cheeks	4052	LTBP1	OMIM:619451
HP:0034274	Gastrointestinal ulcer	64132	XYLT2	OMIM:605822
HP:0034274	Gastrointestinal ulcer	6850	SYK	OMIM:619381
HP:0034274	Gastrointestinal ulcer	2033	EP300	OMIM:618333
HP:0034274	Gastrointestinal ulcer	5340	PLG	OMIM:217090
HP:0034274	Gastrointestinal ulcer	5340	PLG	ORPHA:722
HP:0034274	Gastrointestinal ulcer	493856	CISD2	OMIM:604928
HP:0034274	Gastrointestinal ulcer	493856	CISD2	ORPHA:3463
HP:0034274	Gastrointestinal ulcer	7466	WFS1	ORPHA:3463
HP:0034274	Gastrointestinal ulcer	57492	ARID1B	OMIM:135900
HP:0034274	Gastrointestinal ulcer	2629	GBA1	ORPHA:2072
HP:0034274	Gastrointestinal ulcer	4221	MEN1	ORPHA:652
HP:0034274	Gastrointestinal ulcer	4221	MEN1	OMIM:131100
HP:0034274	Gastrointestinal ulcer	1027	CDKN1B	ORPHA:652
HP:0034274	Gastrointestinal ulcer	1027	CDKN1B	ORPHA:276152
HP:0034274	Gastrointestinal ulcer	1026	CDKN1A	ORPHA:652
HP:0034274	Gastrointestinal ulcer	1030	CDKN2B	ORPHA:652
HP:0034274	Gastrointestinal ulcer	1031	CDKN2C	ORPHA:652
HP:0034274	Gastrointestinal ulcer	79577	CDC73	ORPHA:143
HP:0034274	Gastrointestinal ulcer	79577	CDC73	ORPHA:99880
HP:0034274	Gastrointestinal ulcer	1175	AP2S1	OMIM:600740
HP:0034274	Gastrointestinal ulcer	2767	GNA11	OMIM:145981
HP:0034274	Gastrointestinal ulcer	171023	ASXL1	ORPHA:98849
HP:0034274	Gastrointestinal ulcer	54790	TET2	ORPHA:98849
HP:0034274	Gastrointestinal ulcer	3815	KIT	ORPHA:98849
HP:0034274	Gastrointestinal ulcer	6427	SRSF2	ORPHA:98849
HP:0034274	Gastrointestinal ulcer	6804	STX1A	ORPHA:904
HP:0034274	Gastrointestinal ulcer	7461	CLIP2	ORPHA:904
HP:0034274	Gastrointestinal ulcer	84277	DNAJC30	ORPHA:904
HP:0034274	Gastrointestinal ulcer	8468	FKBP6	ORPHA:904
HP:0034274	Gastrointestinal ulcer	5982	RFC2	ORPHA:904
HP:0034274	Gastrointestinal ulcer	2969	GTF2I	ORPHA:904
HP:0034274	Gastrointestinal ulcer	3984	LIMK1	ORPHA:904
HP:0034274	Gastrointestinal ulcer	9569	GTF2IRD1	ORPHA:904
HP:0034274	Gastrointestinal ulcer	155382	VPS37D	ORPHA:904
HP:0034274	Gastrointestinal ulcer	155368	METTL27	ORPHA:904
HP:0034274	Gastrointestinal ulcer	114049	BUD23	ORPHA:904
HP:0034274	Gastrointestinal ulcer	7458	EIF4H	ORPHA:904
HP:0034274	Gastrointestinal ulcer	84163	GTF2IRD2	ORPHA:904
HP:0034274	Gastrointestinal ulcer	9275	BCL7B	ORPHA:904
HP:0034274	Gastrointestinal ulcer	26608	TBL2	ORPHA:904
HP:0034274	Gastrointestinal ulcer	653361	NCF1	ORPHA:904
HP:0034274	Gastrointestinal ulcer	135886	TMEM270	ORPHA:904
HP:0034274	Gastrointestinal ulcer	51085	MLXIPL	ORPHA:904
HP:0034274	Gastrointestinal ulcer	9031	BAZ1B	ORPHA:904
HP:0034274	Gastrointestinal ulcer	2006	ELN	ORPHA:904
HP:0034274	Gastrointestinal ulcer	3248	HPGD	ORPHA:2796
HP:0034274	Gastrointestinal ulcer	6578	SLCO2A1	ORPHA:2796
HP:0034274	Gastrointestinal ulcer	115908	CTHRC1	OMIM:614266
HP:0034274	Gastrointestinal ulcer	4481	MSR1	OMIM:614266
HP:0034274	Gastrointestinal ulcer	51008	ASCC1	OMIM:614266
HP:0034274	Gastrointestinal ulcer	4312	MMP1	ORPHA:79408
HP:0034274	Gastrointestinal ulcer	1294	COL7A1	ORPHA:79408
HP:0034274	Gastrointestinal ulcer	5321	PLA2G4A	OMIM:618372
HP:0034274	Gastrointestinal ulcer	5297	PI4KA	ORPHA:436252
HP:0034274	Gastrointestinal ulcer	57217	TTC7A	ORPHA:436252
HP:0034274	Gastrointestinal ulcer	7128	TNFAIP3	OMIM:616744
HP:0034275	Verrucous epidermal nevus	7507	XPA	OMIM:278700
HP:0034276	Elevated circulating thymidine concentration	1890	TYMP	OMIM:603041
HP:0034276	Elevated circulating thymidine concentration	5428	POLG	OMIM:603041
HP:0034277	Elevated circulating deoxyuridine concentration	1890	TYMP	OMIM:603041
HP:0034277	Elevated circulating deoxyuridine concentration	5428	POLG	OMIM:603041
HP:0034278	Multinucleated erythroblast	84529	CDIN1	OMIM:615631
HP:0034279	2,8-dihydroxyadenine crystalluria	353	APRT	OMIM:614723
HP:0031703	Abnormal ear morphology	23126	POGZ	OMIM:616364
HP:0031703	Abnormal ear morphology	23126	POGZ	ORPHA:468678
HP:0031703	Abnormal ear morphology	4659	PPP1R12A	OMIM:618820
HP:0031703	Abnormal ear morphology	23314	SATB2	ORPHA:251028
HP:0031703	Abnormal ear morphology	2887	GRB10	ORPHA:96182
HP:0031703	Abnormal ear morphology	2132	EXT2	ORPHA:466926
HP:0031703	Abnormal ear morphology	79631	EFL1	ORPHA:811
HP:0031703	Abnormal ear morphology	51119	SBDS	ORPHA:811
HP:0031703	Abnormal ear morphology	6729	SRP54	ORPHA:811
HP:0031703	Abnormal ear morphology	8294	H4C9	OMIM:619951
HP:0031703	Abnormal ear morphology	9853	RUSC2	OMIM:617773
HP:0031703	Abnormal ear morphology	6659	SOX4	OMIM:618506
HP:0031703	Abnormal ear morphology	51126	NAA20	OMIM:619717
HP:0031703	Abnormal ear morphology	55627	SMPD4	OMIM:618622
HP:0031703	Abnormal ear morphology	4897	NRCAM	OMIM:619833
HP:0031703	Abnormal ear morphology	4281	MID1	OMIM:300000
HP:0031703	Abnormal ear morphology	4281	MID1	ORPHA:2745
HP:0031703	Abnormal ear morphology	3020	H3-3A	OMIM:619720
HP:0031703	Abnormal ear morphology	80816	ASXL3	OMIM:615485
HP:0031703	Abnormal ear morphology	4286	MITF	OMIM:617306
HP:0031703	Abnormal ear morphology	10225	CD96	OMIM:211750
HP:0031703	Abnormal ear morphology	5119	CHMP1A	OMIM:614961
HP:0031703	Abnormal ear morphology	55858	TMEM165	OMIM:614727
HP:0031703	Abnormal ear morphology	23116	TOGARAM1	OMIM:619185
HP:0031703	Abnormal ear morphology	1954	MEGF8	OMIM:614976
HP:0031703	Abnormal ear morphology	4598	MVK	OMIM:610377
HP:0031703	Abnormal ear morphology	4036	LRP2	ORPHA:2143
HP:0031703	Abnormal ear morphology	4036	LRP2	OMIM:222448
HP:0031703	Abnormal ear morphology	26005	C2CD3	OMIM:615948
HP:0031703	Abnormal ear morphology	8493	PPM1D	OMIM:617450
HP:0031703	Abnormal ear morphology	4593	MUSK	OMIM:208150
HP:0031703	Abnormal ear morphology	4593	MUSK	ORPHA:994
HP:0031703	Abnormal ear morphology	57680	CHD8	OMIM:615032
HP:0031703	Abnormal ear morphology	1857	DVL3	ORPHA:3107
HP:0031703	Abnormal ear morphology	7474	WNT5A	ORPHA:3107
HP:0031703	Abnormal ear morphology	7474	WNT5A	OMIM:180700
HP:0031703	Abnormal ear morphology	6660	SOX5	OMIM:616803
HP:0031703	Abnormal ear morphology	285175	UNC80	OMIM:616801
HP:0031703	Abnormal ear morphology	3211	HOXB1	OMIM:614744
HP:0031703	Abnormal ear morphology	6942	TCF20	OMIM:618430
HP:0031703	Abnormal ear morphology	23261	CAMTA1	OMIM:614756
HP:0031703	Abnormal ear morphology	55691	FRMD4A	OMIM:616819
HP:0031703	Abnormal ear morphology	64919	BCL11B	OMIM:617237
HP:0031703	Abnormal ear morphology	4087	SMAD2	OMIM:619657
HP:0031703	Abnormal ear morphology	701	BUB1B	OMIM:257300
HP:0031703	Abnormal ear morphology	171023	ASXL1	OMIM:605039
HP:0031703	Abnormal ear morphology	8295	TRRAP	OMIM:618454
HP:0031703	Abnormal ear morphology	5081	PAX7	OMIM:618578
HP:0031703	Abnormal ear morphology	164	AP1G1	OMIM:619548
HP:0031703	Abnormal ear morphology	6664	SOX11	OMIM:615866
HP:0031703	Abnormal ear morphology	2879	GPX4	OMIM:250220
HP:0031703	Abnormal ear morphology	84706	GPT2	OMIM:616281
HP:0031703	Abnormal ear morphology	55906	ZC4H2	OMIM:301041
HP:0031703	Abnormal ear morphology	5898	RALA	OMIM:619311
HP:0031703	Abnormal ear morphology	10466	COG5	ORPHA:263487
HP:0031703	Abnormal ear morphology	65062	TMEM237	OMIM:614424
HP:0031703	Abnormal ear morphology	50814	NSDHL	ORPHA:251383
HP:0031703	Abnormal ear morphology	50814	NSDHL	OMIM:300831
HP:0031703	Abnormal ear morphology	55593	OTUD5	OMIM:301056
HP:0031703	Abnormal ear morphology	56945	MRPS22	OMIM:611719
HP:0031703	Abnormal ear morphology	128869	PIGU	OMIM:618590
HP:0031703	Abnormal ear morphology	7707	ZNF148	OMIM:617260
HP:0031703	Abnormal ear morphology	6647	SOD1	OMIM:618598
HP:0031703	Abnormal ear morphology	5859	QARS1	OMIM:615760
HP:0031703	Abnormal ear morphology	84162	BLTP1	OMIM:617822
HP:0031703	Abnormal ear morphology	998	CDC42	OMIM:616737
HP:0031703	Abnormal ear morphology	4081	MAB21L1	OMIM:618479
HP:0031703	Abnormal ear morphology	5831	PYCR1	OMIM:614438
HP:0031703	Abnormal ear morphology	176	ACAN	OMIM:612813
HP:0031703	Abnormal ear morphology	176	ACAN	ORPHA:171866
HP:0031703	Abnormal ear morphology	84892	POMGNT2	ORPHA:899
HP:0031703	Abnormal ear morphology	148789	B3GALNT2	ORPHA:899
HP:0031703	Abnormal ear morphology	1282	COL4A1	ORPHA:899
HP:0031703	Abnormal ear morphology	10329	RXYLT1	ORPHA:899
HP:0031703	Abnormal ear morphology	1605	DAG1	ORPHA:899
HP:0031703	Abnormal ear morphology	11041	B4GAT1	ORPHA:899
HP:0031703	Abnormal ear morphology	84197	POMK	ORPHA:899
HP:0031703	Abnormal ear morphology	1009	CDH11	OMIM:211380
HP:0031703	Abnormal ear morphology	63931	MRPS14	OMIM:618378
HP:0031703	Abnormal ear morphology	5144	PDE4D	ORPHA:439822
HP:0031703	Abnormal ear morphology	6304	SATB1	OMIM:619229
HP:0031703	Abnormal ear morphology	4927	NUP88	ORPHA:994
HP:0031703	Abnormal ear morphology	4927	NUP88	OMIM:618393
HP:0031703	Abnormal ear morphology	7846	TUBA1A	ORPHA:994
HP:0031703	Abnormal ear morphology	4654	MYOD1	ORPHA:994
HP:0031703	Abnormal ear morphology	5913	RAPSN	ORPHA:994
HP:0031703	Abnormal ear morphology	6572	SLC18A3	ORPHA:994
HP:0031703	Abnormal ear morphology	285489	DOK7	ORPHA:994
HP:0031703	Abnormal ear morphology	8812	CCNK	OMIM:618147
HP:0031703	Abnormal ear morphology	8929	PHOX2B	OMIM:209880
HP:0031703	Abnormal ear morphology	3636	INPPL1	OMIM:258480
HP:0031703	Abnormal ear morphology	8239	USP9X	OMIM:300968
HP:0031703	Abnormal ear morphology	83737	ITCH	OMIM:613385
HP:0031703	Abnormal ear morphology	28957	MRPS28	OMIM:618958
HP:0031703	Abnormal ear morphology	64093	SMOC1	OMIM:206920
HP:0031703	Abnormal ear morphology	118924	FRA10AC1	OMIM:620113
HP:0031703	Abnormal ear morphology	2273	FHL1	OMIM:300280
HP:0031703	Abnormal ear morphology	126792	B3GALT6	ORPHA:536467
HP:0031703	Abnormal ear morphology	8777	MPDZ	OMIM:615219
HP:0031703	Abnormal ear morphology	170692	ADAMTS18	OMIM:615458
HP:0031703	Abnormal ear morphology	1302	COL11A2	ORPHA:1427
HP:0031703	Abnormal ear morphology	101929726	MYMX	OMIM:619941
HP:0031703	Abnormal ear morphology	23404	EXOSC2	OMIM:617763
HP:0031703	Abnormal ear morphology	8665	EIF3F	OMIM:618295
HP:0031703	Abnormal ear morphology	10736	SIX2	ORPHA:488437
HP:0031703	Abnormal ear morphology	10082	GPC6	ORPHA:93329
HP:0031703	Abnormal ear morphology	2260	FGFR1	OMIM:615465
HP:0031703	Abnormal ear morphology	9373	PLAA	OMIM:617527
HP:0031703	Abnormal ear morphology	79955	PDZD7	ORPHA:231178
HP:0031703	Abnormal ear morphology	4647	MYO7A	ORPHA:231178
HP:0031703	Abnormal ear morphology	25861	WHRN	ORPHA:231178
HP:0031703	Abnormal ear morphology	84059	ADGRV1	ORPHA:231178
HP:0031703	Abnormal ear morphology	152137	CCDC50	OMIM:607453
HP:0031703	Abnormal ear morphology	1277	COL1A1	OMIM:166220
HP:0031703	Abnormal ear morphology	1277	COL1A1	OMIM:166200
HP:0031703	Abnormal ear morphology	613	BCR	ORPHA:261330
HP:0031703	Abnormal ear morphology	1399	CRKL	ORPHA:261330
HP:0031703	Abnormal ear morphology	57061	HYMAI	ORPHA:96191
HP:0031703	Abnormal ear morphology	5325	PLAGL1	ORPHA:96191
HP:0031703	Abnormal ear morphology	54539	NDUFB11	ORPHA:2556
HP:0031703	Abnormal ear morphology	1349	COX7B	ORPHA:2556
HP:0031703	Abnormal ear morphology	3052	HCCS	ORPHA:2556
HP:0031703	Abnormal ear morphology	7372	UMPS	ORPHA:30
HP:0031703	Abnormal ear morphology	4867	NPHP1	ORPHA:220497
HP:0031703	Abnormal ear morphology	4867	NPHP1	ORPHA:110
HP:0031703	Abnormal ear morphology	72	ACTG2	ORPHA:2604
HP:0031703	Abnormal ear morphology	55780	ERMARD	ORPHA:75857
HP:0031703	Abnormal ear morphology	3039	HBA1	ORPHA:98791
HP:0031703	Abnormal ear morphology	3040	HBA2	ORPHA:98791
HP:0031703	Abnormal ear morphology	134701	RIPPLY2	ORPHA:2311
HP:0031703	Abnormal ear morphology	10683	DLL3	ORPHA:2311
HP:0031703	Abnormal ear morphology	3955	LFNG	ORPHA:2311
HP:0031703	Abnormal ear morphology	84667	HES7	ORPHA:2311
HP:0031703	Abnormal ear morphology	145873	MESP2	ORPHA:2311
HP:0031703	Abnormal ear morphology	51524	TMEM138	ORPHA:2318
HP:0031703	Abnormal ear morphology	23090	ZNF423	ORPHA:2318
HP:0031703	Abnormal ear morphology	80184	CEP290	ORPHA:2318
HP:0031703	Abnormal ear morphology	80184	CEP290	ORPHA:564
HP:0031703	Abnormal ear morphology	80184	CEP290	ORPHA:110
HP:0031703	Abnormal ear morphology	57096	RPGRIP1	ORPHA:564
HP:0031703	Abnormal ear morphology	9184	BUB3	ORPHA:1052
HP:0031703	Abnormal ear morphology	699	BUB1	ORPHA:1052
HP:0031703	Abnormal ear morphology	1501	CTNND2	ORPHA:281
HP:0031703	Abnormal ear morphology	9037	SEMA5A	ORPHA:281
HP:0031703	Abnormal ear morphology	10716	TBR1	ORPHA:1617
HP:0031703	Abnormal ear morphology	2313	FLI1	ORPHA:2308
HP:0031703	Abnormal ear morphology	92482	BBIP1	ORPHA:110
HP:0031703	Abnormal ear morphology	11020	IFT27	ORPHA:110
HP:0031703	Abnormal ear morphology	51057	WDPCP	ORPHA:110
HP:0031703	Abnormal ear morphology	27241	BBS9	ORPHA:110
HP:0031703	Abnormal ear morphology	84984	CEP19	ORPHA:110
HP:0031703	Abnormal ear morphology	22954	TRIM32	ORPHA:110
HP:0031703	Abnormal ear morphology	79738	BBS10	ORPHA:110
HP:0031703	Abnormal ear morphology	585	BBS4	ORPHA:110
HP:0031703	Abnormal ear morphology	8195	MKKS	ORPHA:110
HP:0031703	Abnormal ear morphology	54585	LZTFL1	ORPHA:110
HP:0031703	Abnormal ear morphology	55212	BBS7	ORPHA:110
HP:0031703	Abnormal ear morphology	166379	BBS12	ORPHA:110
HP:0031703	Abnormal ear morphology	129880	BBS5	ORPHA:110
HP:0031703	Abnormal ear morphology	80173	IFT74	ORPHA:110
HP:0031703	Abnormal ear morphology	25914	RTTN	ORPHA:468631
HP:0031703	Abnormal ear morphology	5495	PPM1B	ORPHA:163693
HP:0031703	Abnormal ear morphology	6519	SLC3A1	ORPHA:163693
HP:0031703	Abnormal ear morphology	9581	PREPL	ORPHA:163693
HP:0031703	Abnormal ear morphology	79823	CAMKMT	ORPHA:163693
HP:0031703	Abnormal ear morphology	59341	TRPV4	ORPHA:2635
HP:0031703	Abnormal ear morphology	9939	RBM8A	ORPHA:3320
HP:0031703	Abnormal ear morphology	64131	XYLT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	124583	CANT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	55790	CSGALNACT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	3239	HOXD13	ORPHA:887
HP:0031703	Abnormal ear morphology	28981	IFT81	OMIM:617895
HP:0031703	Abnormal ear morphology	7360	UGP2	OMIM:618744
HP:0031703	Abnormal ear morphology	7021	TFAP2B	OMIM:169100
HP:0031703	Abnormal ear morphology	51	ACOX1	ORPHA:2971
HP:0031703	Abnormal ear morphology	51	ACOX1	OMIM:264470
HP:0031703	Abnormal ear morphology	55209	SETD5	ORPHA:404440
HP:0031703	Abnormal ear morphology	55209	SETD5	OMIM:615761
HP:0031703	Abnormal ear morphology	2073	ERCC5	OMIM:616570
HP:0031703	Abnormal ear morphology	8942	KYNU	OMIM:617661
HP:0031703	Abnormal ear morphology	283489	CHAMP1	OMIM:616579
HP:0031703	Abnormal ear morphology	818	CAMK2G	OMIM:618522
HP:0031703	Abnormal ear morphology	10606	PAICS	OMIM:619859
HP:0031703	Abnormal ear morphology	81857	MED25	ORPHA:464738
HP:0031703	Abnormal ear morphology	81857	MED25	OMIM:616449
HP:0031703	Abnormal ear morphology	55681	SCYL2	OMIM:618766
HP:0031703	Abnormal ear morphology	857	CAV1	OMIM:606721
HP:0031703	Abnormal ear morphology	55768	NGLY1	OMIM:615273
HP:0031703	Abnormal ear morphology	5593	PRKG2	OMIM:619636
HP:0031703	Abnormal ear morphology	79770	TXNDC15	OMIM:619879
HP:0031703	Abnormal ear morphology	8516	ITGA8	ORPHA:1848
HP:0031703	Abnormal ear morphology	8516	ITGA8	OMIM:191830
HP:0031703	Abnormal ear morphology	26281	FGF20	ORPHA:1848
HP:0031703	Abnormal ear morphology	2674	GFRA1	ORPHA:1848
HP:0031703	Abnormal ear morphology	7484	WNT9B	ORPHA:1848
HP:0031703	Abnormal ear morphology	253959	RALGAPA1	OMIM:618797
HP:0031703	Abnormal ear morphology	56098	PCDHGC4	OMIM:619880
HP:0031703	Abnormal ear morphology	54916	TMEM260	OMIM:617478
HP:0031703	Abnormal ear morphology	23499	MACF1	OMIM:618325
HP:0031703	Abnormal ear morphology	404672	GTF2H5	OMIM:616395
HP:0031703	Abnormal ear morphology	1917	EEF1A2	OMIM:616393
HP:0031703	Abnormal ear morphology	60529	ALX4	ORPHA:228390
HP:0031703	Abnormal ear morphology	60529	ALX4	OMIM:613451
HP:0031703	Abnormal ear morphology	26173	INTS1	OMIM:618571
HP:0031703	Abnormal ear morphology	1523	CUX1	OMIM:618330
HP:0031703	Abnormal ear morphology	4212	MEIS2	ORPHA:261190
HP:0031703	Abnormal ear morphology	4212	MEIS2	OMIM:600987
HP:0031703	Abnormal ear morphology	51574	LARP7	OMIM:615071
HP:0031703	Abnormal ear morphology	51574	LARP7	ORPHA:319671
HP:0031703	Abnormal ear morphology	8473	OGT	OMIM:300997
HP:0031703	Abnormal ear morphology	54517	PUS7	OMIM:618342
HP:0031703	Abnormal ear morphology	56623	INPP5E	OMIM:213300
HP:0031703	Abnormal ear morphology	56623	INPP5E	ORPHA:1454
HP:0031703	Abnormal ear morphology	56623	INPP5E	ORPHA:475
HP:0031703	Abnormal ear morphology	4703	NEB	OMIM:256030
HP:0031703	Abnormal ear morphology	4703	NEB	ORPHA:171433
HP:0031703	Abnormal ear morphology	4703	NEB	ORPHA:171430
HP:0031703	Abnormal ear morphology	2972	BRF1	ORPHA:444072
HP:0031703	Abnormal ear morphology	2972	BRF1	OMIM:616202
HP:0031703	Abnormal ear morphology	91754	NEK9	OMIM:617022
HP:0031703	Abnormal ear morphology	5649	RELN	ORPHA:89844
HP:0031703	Abnormal ear morphology	114803	MYSM1	OMIM:618116
HP:0031703	Abnormal ear morphology	51114	ZDHHC9	ORPHA:776
HP:0031703	Abnormal ear morphology	65109	UPF3B	ORPHA:776
HP:0031703	Abnormal ear morphology	23111	SPART	ORPHA:101000
HP:0031703	Abnormal ear morphology	51729	WBP11	OMIM:619227
HP:0031703	Abnormal ear morphology	50801	KCNK4	OMIM:618381
HP:0031703	Abnormal ear morphology	8567	MADD	OMIM:619004
HP:0031703	Abnormal ear morphology	91875	TTC5	OMIM:619244
HP:0031703	Abnormal ear morphology	199221	DZIP1L	ORPHA:731
HP:0031703	Abnormal ear morphology	5314	PKHD1	ORPHA:731
HP:0031703	Abnormal ear morphology	84231	TRAF7	OMIM:618164
HP:0031703	Abnormal ear morphology	10020	GNE	ORPHA:3166
HP:0031703	Abnormal ear morphology	10020	GNE	OMIM:269921
HP:0031703	Abnormal ear morphology	9897	WASHC5	ORPHA:7
HP:0031703	Abnormal ear morphology	9897	WASHC5	OMIM:220210
HP:0031703	Abnormal ear morphology	28952	CCDC22	ORPHA:7
HP:0031703	Abnormal ear morphology	51626	DYNC2LI1	OMIM:617088
HP:0031703	Abnormal ear morphology	118429	ANTXR2	OMIM:228600
HP:0031703	Abnormal ear morphology	84168	ANTXR1	ORPHA:2067
HP:0031703	Abnormal ear morphology	168667	BMPER	OMIM:608022
HP:0031703	Abnormal ear morphology	2294	FOXF1	OMIM:265380
HP:0031703	Abnormal ear morphology	5393	EXOSC9	OMIM:618065
HP:0031703	Abnormal ear morphology	26153	KIF26A	OMIM:620156
HP:0031703	Abnormal ear morphology	1801	DPH1	OMIM:616901
HP:0031703	Abnormal ear morphology	1801	DPH1	ORPHA:459061
HP:0031703	Abnormal ear morphology	1509	CTSD	OMIM:610127
HP:0031703	Abnormal ear morphology	23325	WASHC4	OMIM:615817
HP:0031703	Abnormal ear morphology	55148	UBR7	OMIM:619189
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	OMIM:278250
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	OMIM:219200
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	ORPHA:2834
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	ORPHA:357074
HP:0031703	Abnormal ear morphology	79867	TCTN2	OMIM:613885
HP:0031703	Abnormal ear morphology	79867	TCTN2	ORPHA:475
HP:0031703	Abnormal ear morphology	63894	VIPAS39	OMIM:613404
HP:0031703	Abnormal ear morphology	79053	ALG8	OMIM:608104
HP:0031703	Abnormal ear morphology	79053	ALG8	ORPHA:79325
HP:0031703	Abnormal ear morphology	54084	TSPEAR	OMIM:620173
HP:0031703	Abnormal ear morphology	10801	SEPTIN9	OMIM:162100
HP:0031703	Abnormal ear morphology	26053	AUTS2	OMIM:615834
HP:0031703	Abnormal ear morphology	26053	AUTS2	ORPHA:352490
HP:0031703	Abnormal ear morphology	10013	HDAC6	ORPHA:163966
HP:0031703	Abnormal ear morphology	10013	HDAC6	OMIM:300863
HP:0031703	Abnormal ear morphology	23137	SMC5	OMIM:620185
HP:0031703	Abnormal ear morphology	158	ADSL	ORPHA:46
HP:0031703	Abnormal ear morphology	158	ADSL	OMIM:103050
HP:0031703	Abnormal ear morphology	64116	SLC39A8	ORPHA:468699
HP:0031703	Abnormal ear morphology	6509	SLC1A4	ORPHA:447997
HP:0031703	Abnormal ear morphology	4208	MEF2C	OMIM:613443
HP:0031703	Abnormal ear morphology	7407	VARS1	OMIM:617802
HP:0031703	Abnormal ear morphology	10535	RNASEH2A	ORPHA:51
HP:0031703	Abnormal ear morphology	10535	RNASEH2A	OMIM:610333
HP:0031703	Abnormal ear morphology	84153	RNASEH2C	ORPHA:51
HP:0031703	Abnormal ear morphology	25939	SAMHD1	ORPHA:51
HP:0031703	Abnormal ear morphology	79621	RNASEH2B	ORPHA:51
HP:0031703	Abnormal ear morphology	103	ADAR	ORPHA:51
HP:0031703	Abnormal ear morphology	11277	TREX1	ORPHA:51
HP:0031703	Abnormal ear morphology	100147744	RNU7-1	ORPHA:51
HP:0031703	Abnormal ear morphology	134353	LSM11	ORPHA:51
HP:0031703	Abnormal ear morphology	64135	IFIH1	ORPHA:51
HP:0031703	Abnormal ear morphology	10159	ATP6AP2	OMIM:301045
HP:0031703	Abnormal ear morphology	91949	COG7	OMIM:608779
HP:0031703	Abnormal ear morphology	27238	GPKOW	ORPHA:2570
HP:0031703	Abnormal ear morphology	22856	CHSY1	ORPHA:363417
HP:0031703	Abnormal ear morphology	1305	COL13A1	OMIM:616720
HP:0031703	Abnormal ear morphology	1305	COL13A1	ORPHA:98914
HP:0031703	Abnormal ear morphology	83479	DDX59	OMIM:174300
HP:0031703	Abnormal ear morphology	169792	GLIS3	OMIM:610199
HP:0031703	Abnormal ear morphology	79644	SRD5A3	OMIM:612379
HP:0031703	Abnormal ear morphology	7547	ZIC3	OMIM:306955
HP:0031703	Abnormal ear morphology	57211	ADGRG6	OMIM:616503
HP:0031703	Abnormal ear morphology	3759	KCNJ2	OMIM:170390
HP:0031703	Abnormal ear morphology	3759	KCNJ2	ORPHA:37553
HP:0031703	Abnormal ear morphology	55764	IFT122	OMIM:218330
HP:0031703	Abnormal ear morphology	5745	PTH1R	ORPHA:50945
HP:0031703	Abnormal ear morphology	8985	PLOD3	OMIM:612394
HP:0031703	Abnormal ear morphology	23322	RPGRIP1L	ORPHA:1454
HP:0031703	Abnormal ear morphology	57545	CC2D2A	ORPHA:1454
HP:0031703	Abnormal ear morphology	55969	RAB5IF	OMIM:616994
HP:0031703	Abnormal ear morphology	4758	NEU1	ORPHA:93400
HP:0031703	Abnormal ear morphology	4758	NEU1	ORPHA:93399
HP:0031703	Abnormal ear morphology	6182	MRPL12	OMIM:618951
HP:0031703	Abnormal ear morphology	60482	SLC5A7	ORPHA:98914
HP:0031703	Abnormal ear morphology	4649	MYO9A	ORPHA:98914
HP:0031703	Abnormal ear morphology	1103	CHAT	ORPHA:98914
HP:0031703	Abnormal ear morphology	6576	SLC25A1	ORPHA:98914
HP:0031703	Abnormal ear morphology	6843	VAMP1	ORPHA:98914
HP:0031703	Abnormal ear morphology	375790	AGRN	ORPHA:98914
HP:0031703	Abnormal ear morphology	127833	SYT2	ORPHA:98914
HP:0031703	Abnormal ear morphology	6616	SNAP25	ORPHA:98914
HP:0031703	Abnormal ear morphology	84628	NTNG2	OMIM:618718
HP:0031703	Abnormal ear morphology	9321	TRIP11	OMIM:200600
HP:0031703	Abnormal ear morphology	6651	SON	ORPHA:500150
HP:0031703	Abnormal ear morphology	6651	SON	OMIM:617140
HP:0031703	Abnormal ear morphology	84700	MYO18B	OMIM:616549
HP:0031703	Abnormal ear morphology	79583	TMEM231	ORPHA:2752
HP:0031703	Abnormal ear morphology	529	ATP6V1E1	OMIM:617402
HP:0031703	Abnormal ear morphology	529	ATP6V1E1	ORPHA:357074
HP:0031703	Abnormal ear morphology	84148	KAT8	OMIM:618974
HP:0031703	Abnormal ear morphology	3762	KCNJ5	ORPHA:37553
HP:0031703	Abnormal ear morphology	10617	STAMBP	OMIM:614261
HP:0031703	Abnormal ear morphology	10054	UBA2	OMIM:619959
HP:0031703	Abnormal ear morphology	64220	STRA6	OMIM:601186
HP:0031703	Abnormal ear morphology	64220	STRA6	ORPHA:2470
HP:0031703	Abnormal ear morphology	6536	SLC6A9	OMIM:617301
HP:0031703	Abnormal ear morphology	28960	DCPS	OMIM:616459
HP:0031703	Abnormal ear morphology	10381	TUBB3	ORPHA:300570
HP:0031703	Abnormal ear morphology	79184	BRCC3	ORPHA:280679
HP:0031703	Abnormal ear morphology	54968	TMEM70	OMIM:614052
HP:0031703	Abnormal ear morphology	54968	TMEM70	ORPHA:1194
HP:0031703	Abnormal ear morphology	22884	WDR37	OMIM:618652
HP:0031703	Abnormal ear morphology	84314	TMEM107	OMIM:617563
HP:0031703	Abnormal ear morphology	57178	ZMIZ1	OMIM:618659
HP:0031703	Abnormal ear morphology	55623	THUMPD1	OMIM:619989
HP:0031703	Abnormal ear morphology	79600	TCTN1	ORPHA:475
HP:0031703	Abnormal ear morphology	51684	SUFU	ORPHA:475
HP:0031703	Abnormal ear morphology	200894	ARL13B	ORPHA:475
HP:0031703	Abnormal ear morphology	9731	CEP104	ORPHA:475
HP:0031703	Abnormal ear morphology	23247	KATNIP	ORPHA:475
HP:0031703	Abnormal ear morphology	219854	TMEM218	ORPHA:475
HP:0031703	Abnormal ear morphology	54903	MKS1	ORPHA:475
HP:0031703	Abnormal ear morphology	54903	MKS1	OMIM:249000
HP:0031703	Abnormal ear morphology	95681	CEP41	ORPHA:475
HP:0031703	Abnormal ear morphology	10464	PIBF1	ORPHA:475
HP:0031703	Abnormal ear morphology	80210	ARMC9	ORPHA:475
HP:0031703	Abnormal ear morphology	25776	CBY1	ORPHA:475
HP:0031703	Abnormal ear morphology	27077	B9D1	ORPHA:475
HP:0031703	Abnormal ear morphology	1789	DNMT3B	OMIM:242860
HP:0031703	Abnormal ear morphology	1789	DNMT3B	ORPHA:2268
HP:0031703	Abnormal ear morphology	51604	PIGT	OMIM:615398
HP:0031703	Abnormal ear morphology	51604	PIGT	ORPHA:369837
HP:0031703	Abnormal ear morphology	7862	BRPF1	OMIM:617333
HP:0031703	Abnormal ear morphology	5048	PAFAH1B1	ORPHA:217385
HP:0031703	Abnormal ear morphology	7531	YWHAE	ORPHA:217385
HP:0031703	Abnormal ear morphology	9841	ZBTB24	OMIM:614069
HP:0031703	Abnormal ear morphology	9841	ZBTB24	ORPHA:2268
HP:0031703	Abnormal ear morphology	51098	IFT52	OMIM:617102
HP:0031703	Abnormal ear morphology	9928	KIF14	OMIM:616258
HP:0031703	Abnormal ear morphology	2683	B4GALT1	ORPHA:79332
HP:0031703	Abnormal ear morphology	2556	GABRA3	OMIM:301091
HP:0031703	Abnormal ear morphology	57724	EPG5	OMIM:242840
HP:0031703	Abnormal ear morphology	23162	MAPK8IP3	OMIM:618443
HP:0031703	Abnormal ear morphology	79989	IFT56	OMIM:619534
HP:0031703	Abnormal ear morphology	9319	TRIP13	OMIM:617598
HP:0031703	Abnormal ear morphology	85365	ALG2	OMIM:607906
HP:0031703	Abnormal ear morphology	10516	FBLN5	ORPHA:90348
HP:0031703	Abnormal ear morphology	1107	CHD3	OMIM:618205
HP:0031703	Abnormal ear morphology	29929	ALG6	ORPHA:79320
HP:0031703	Abnormal ear morphology	54361	WNT4	OMIM:611812
HP:0031703	Abnormal ear morphology	6261	RYR1	OMIM:619542
HP:0031703	Abnormal ear morphology	3658	IREB2	OMIM:618451
HP:0031703	Abnormal ear morphology	29968	PSAT1	OMIM:616038
HP:0031703	Abnormal ear morphology	5631	PRPS1	ORPHA:423479
HP:0031703	Abnormal ear morphology	5631	PRPS1	OMIM:300661
HP:0031703	Abnormal ear morphology	79868	ALG13	OMIM:300884
HP:0031703	Abnormal ear morphology	2710	GK	OMIM:307030
HP:0031703	Abnormal ear morphology	1725	DHPS	OMIM:618480
HP:0031703	Abnormal ear morphology	9509	ADAMTS2	OMIM:225410
HP:0031703	Abnormal ear morphology	26276	VPS33B	OMIM:208085
HP:0031703	Abnormal ear morphology	10524	KAT5	OMIM:619103
HP:0031703	Abnormal ear morphology	3977	LIFR	OMIM:601559
HP:0031703	Abnormal ear morphology	9244	CRLF1	OMIM:272430
HP:0031703	Abnormal ear morphology	57465	TBC1D24	ORPHA:79500
HP:0031703	Abnormal ear morphology	57465	TBC1D24	OMIM:220500
HP:0031703	Abnormal ear morphology	10653	SPINT2	OMIM:270420
HP:0031703	Abnormal ear morphology	1759	DNM1	OMIM:620352
HP:0031703	Abnormal ear morphology	5528	PPP2R5D	ORPHA:457279
HP:0031703	Abnormal ear morphology	2733	GLE1	OMIM:611890
HP:0031703	Abnormal ear morphology	3295	HSD17B4	OMIM:261515
HP:0031703	Abnormal ear morphology	129285	PPP1R21	OMIM:619383
HP:0031703	Abnormal ear morphology	221692	PHACTR1	OMIM:618298
HP:0031703	Abnormal ear morphology	3480	IGF1R	OMIM:270450
HP:0031703	Abnormal ear morphology	83483	PLVAP	OMIM:618183
HP:0031703	Abnormal ear morphology	10128	LRPPRC	OMIM:220111
HP:0031703	Abnormal ear morphology	8506	CNTNAP1	OMIM:618186
HP:0031703	Abnormal ear morphology	55503	TRPV6	OMIM:618188
HP:0031703	Abnormal ear morphology	775	CACNA1C	OMIM:620029
HP:0031703	Abnormal ear morphology	8854	ALDH1A2	OMIM:620025
HP:0031703	Abnormal ear morphology	10274	STAG1	ORPHA:502434
HP:0031703	Abnormal ear morphology	118987	PDZD8	OMIM:620021
HP:0031703	Abnormal ear morphology	58	ACTA1	ORPHA:171433
HP:0031703	Abnormal ear morphology	58	ACTA1	ORPHA:171430
HP:0031703	Abnormal ear morphology	10324	KLHL41	ORPHA:171433
HP:0031703	Abnormal ear morphology	10324	KLHL41	ORPHA:171430
HP:0031703	Abnormal ear morphology	7170	TPM3	ORPHA:171433
HP:0031703	Abnormal ear morphology	9442	MED27	OMIM:619286
HP:0031703	Abnormal ear morphology	131377	KLHL40	ORPHA:171430
HP:0031703	Abnormal ear morphology	56203	LMOD3	ORPHA:171430
HP:0031703	Abnormal ear morphology	22858	CILK1	OMIM:612651
HP:0031703	Abnormal ear morphology	170302	ARX	OMIM:300215
HP:0031703	Abnormal ear morphology	3899	AFF3	OMIM:619297
HP:0031703	Abnormal ear morphology	55107	ANO1	OMIM:620045
HP:0031703	Abnormal ear morphology	4524	MTHFR	ORPHA:563612
HP:0031703	Abnormal ear morphology	57216	VANGL2	ORPHA:563612
HP:0031703	Abnormal ear morphology	3070	HELLS	ORPHA:2268
HP:0031703	Abnormal ear morphology	10352	WARS2	ORPHA:572798
HP:0031703	Abnormal ear morphology	51021	MRPS16	OMIM:610498
HP:0031703	Abnormal ear morphology	2752	GLUL	OMIM:610015
HP:0031703	Abnormal ear morphology	657	BMPR1A	ORPHA:79076
HP:0031703	Abnormal ear morphology	23265	EXOC7	OMIM:619072
HP:0031703	Abnormal ear morphology	1802	DPH2	OMIM:620062
HP:0031703	Abnormal ear morphology	55165	CEP55	OMIM:236500
HP:0031703	Abnormal ear morphology	55027	HEATR3	OMIM:620072
HP:0031703	Abnormal ear morphology	5324	PLAG1	ORPHA:397590
HP:0031703	Abnormal ear morphology	8091	HMGA2	ORPHA:397590
HP:0031703	Abnormal ear morphology	5591	PRKDC	OMIM:615966
HP:0031703	Abnormal ear morphology	471	ATIC	OMIM:608688
HP:0031703	Abnormal ear morphology	471	ATIC	ORPHA:250977
HP:0031703	Abnormal ear morphology	10430	TMEM147	OMIM:620075
HP:0031703	Abnormal ear morphology	5915	RARB	ORPHA:2470
HP:0031703	Abnormal ear morphology	9775	EIF4A3	OMIM:268305
HP:0031703	Abnormal ear morphology	667	DST	OMIM:614653
HP:0031703	Abnormal ear morphology	1144	CHRND	OMIM:253290
HP:0031703	Abnormal ear morphology	6888	TALDO1	OMIM:606003
HP:0031703	Abnormal ear morphology	3720	JARID2	OMIM:620098
HP:0031703	Abnormal ear morphology	9698	PUM1	OMIM:617931
HP:0031703	Abnormal ear morphology	55784	MCTP2	ORPHA:1596
HP:0031703	Abnormal ear morphology	51116	MRPS2	OMIM:617950
HP:0031703	Abnormal ear morphology	10265	IRX5	OMIM:611174
HP:0031703	Abnormal ear morphology	7874	USP7	OMIM:616863
HP:0031703	Abnormal ear morphology	1063	CENPF	OMIM:243605
HP:0031703	Abnormal ear morphology	54551	MAGEL2	OMIM:615547
HP:0031703	Abnormal ear morphology	57572	DOCK6	OMIM:614219
HP:0031703	Abnormal ear morphology	29980	DONSON	OMIM:251230
HP:0031703	Abnormal ear morphology	490	ATP2B1	OMIM:619910
HP:0031703	Abnormal ear morphology	54676	GTPBP2	OMIM:617988
HP:0031703	Abnormal ear morphology	100506658	OCLN	OMIM:251290
HP:0031703	Abnormal ear morphology	4848	CNOT2	OMIM:618608
HP:0031703	Abnormal ear morphology	5307	PITX1	OMIM:119800
HP:0031703	Abnormal ear morphology	55331	ACER3	OMIM:617762
HP:0031703	Abnormal ear morphology	92935	MARS2	OMIM:616430
HP:0031703	Abnormal ear morphology	5184	PEPD	ORPHA:742
HP:0031703	Abnormal ear morphology	5340	PLG	ORPHA:722
HP:0031703	Abnormal ear morphology	5994	RFXAP	ORPHA:572
HP:0031703	Abnormal ear morphology	4261	CIITA	ORPHA:572
HP:0031703	Abnormal ear morphology	5993	RFX5	ORPHA:572
HP:0031703	Abnormal ear morphology	8625	RFXANK	ORPHA:572
HP:0031703	Abnormal ear morphology	137492	VPS37A	ORPHA:319199
HP:0031703	Abnormal ear morphology	1678	TIMM8A	ORPHA:52368
HP:0031703	Abnormal ear morphology	64072	CDH23	ORPHA:231169
HP:0031703	Abnormal ear morphology	10083	USH1C	ORPHA:231169
HP:0031703	Abnormal ear morphology	124590	USH1G	ORPHA:231169
HP:0031703	Abnormal ear morphology	83715	ESPN	ORPHA:231169
HP:0031703	Abnormal ear morphology	10518	CIB2	ORPHA:231169
HP:0031703	Abnormal ear morphology	65217	PCDH15	ORPHA:231169
HP:0031703	Abnormal ear morphology	22901	ARSG	ORPHA:231183
HP:0031703	Abnormal ear morphology	4575	MT-TS2	ORPHA:231183
HP:0031703	Abnormal ear morphology	3035	HARS1	ORPHA:231183
HP:0031703	Abnormal ear morphology	84131	CEP78	ORPHA:231183
HP:0031703	Abnormal ear morphology	23498	HAAO	OMIM:617660
HP:0031703	Abnormal ear morphology	11160	ERLIN2	ORPHA:280384
HP:0031703	Abnormal ear morphology	11160	ERLIN2	ORPHA:209951
HP:0031703	Abnormal ear morphology	9488	PIGB	OMIM:618580
HP:0031703	Abnormal ear morphology	8450	CUL4B	OMIM:300354
HP:0031703	Abnormal ear morphology	26235	FBXL4	OMIM:615471
HP:0031703	Abnormal ear morphology	123606	NIPA1	ORPHA:261183
HP:0031703	Abnormal ear morphology	7283	TUBG1	ORPHA:261183
HP:0031703	Abnormal ear morphology	81614	NIPA2	ORPHA:261183
HP:0031703	Abnormal ear morphology	51621	KLF13	OMIM:612001
HP:0031703	Abnormal ear morphology	10765	KDM5B	OMIM:618109
HP:0031703	Abnormal ear morphology	256297	PTF1A	OMIM:609069
HP:0031703	Abnormal ear morphology	23118	TAB2	ORPHA:228410
HP:0031703	Abnormal ear morphology	89910	UBE3B	OMIM:244450
HP:0031703	Abnormal ear morphology	4010	LMX1B	ORPHA:495818
HP:0031703	Abnormal ear morphology	6812	STXBP1	ORPHA:495818
HP:0031703	Abnormal ear morphology	1836	SLC26A2	ORPHA:93307
HP:0031703	Abnormal ear morphology	30008	EFEMP2	OMIM:614437
HP:0031703	Abnormal ear morphology	271	AMPD2	OMIM:615809
HP:0031703	Abnormal ear morphology	56975	FAM20C	OMIM:259775
HP:0031703	Abnormal ear morphology	57492	ARID1B	OMIM:135900
HP:0031703	Abnormal ear morphology	57492	ARID1B	ORPHA:251056
HP:0031703	Abnormal ear morphology	8289	ARID1A	OMIM:614607
HP:0031703	Abnormal ear morphology	5351	PLOD1	ORPHA:1900
HP:0031703	Abnormal ear morphology	79087	ALG12	OMIM:607143
HP:0031703	Abnormal ear morphology	79087	ALG12	ORPHA:79324
HP:0031703	Abnormal ear morphology	10943	MSL3	OMIM:301032
HP:0031703	Abnormal ear morphology	55697	VAC14	ORPHA:3472
HP:0031703	Abnormal ear morphology	4330	MN1	OMIM:618774
HP:0031703	Abnormal ear morphology	9758	FRMPD4	OMIM:300983
HP:0031703	Abnormal ear morphology	80776	B9D2	OMIM:614175
HP:0031703	Abnormal ear morphology	10682	EBP	ORPHA:35173
HP:0031703	Abnormal ear morphology	10682	EBP	OMIM:302960
HP:0031703	Abnormal ear morphology	79813	EHMT1	OMIM:610253
HP:0031703	Abnormal ear morphology	71	ACTG1	OMIM:614583
HP:0031703	Abnormal ear morphology	8558	CDK10	OMIM:617694
HP:0031703	Abnormal ear morphology	30813	VSX1	OMIM:614195
HP:0031703	Abnormal ear morphology	10472	ZBTB18	OMIM:612337
HP:0031703	Abnormal ear morphology	1749	DLX5	OMIM:183600
HP:0031703	Abnormal ear morphology	23065	EMC1	ORPHA:480898
HP:0031703	Abnormal ear morphology	51322	WAC	OMIM:616708
HP:0031703	Abnormal ear morphology	7476	WNT7A	OMIM:276820
HP:0031703	Abnormal ear morphology	85440	DOCK7	OMIM:615859
HP:0031703	Abnormal ear morphology	219844	HYLS1	OMIM:236680
HP:0031703	Abnormal ear morphology	23299	BICD2	OMIM:618291
HP:0031703	Abnormal ear morphology	7466	WFS1	ORPHA:411590
HP:0031703	Abnormal ear morphology	2108	ETFA	OMIM:231680
HP:0031703	Abnormal ear morphology	2109	ETFB	OMIM:231680
HP:0031703	Abnormal ear morphology	2110	ETFDH	OMIM:231680
HP:0031703	Abnormal ear morphology	668	FOXL2	OMIM:110100
HP:0031703	Abnormal ear morphology	3476	IGBP1	OMIM:300472
HP:0031703	Abnormal ear morphology	3476	IGBP1	ORPHA:52055
HP:0031703	Abnormal ear morphology	1718	DHCR24	OMIM:602398
HP:0031703	Abnormal ear morphology	6909	TBX2	OMIM:618223
HP:0031703	Abnormal ear morphology	10664	CTCF	ORPHA:363611
HP:0031703	Abnormal ear morphology	134218	DNAJC21	OMIM:617052
HP:0031703	Abnormal ear morphology	6711	SPTBN1	OMIM:619475
HP:0031703	Abnormal ear morphology	9780	PIEZO1	OMIM:616843
HP:0031703	Abnormal ear morphology	5361	PLXNA1	OMIM:619955
HP:0031703	Abnormal ear morphology	11198	SUPT16H	OMIM:619480
HP:0031703	Abnormal ear morphology	1457	CSNK2A1	OMIM:617062
HP:0031703	Abnormal ear morphology	53335	BCL11A	OMIM:617101
HP:0031703	Abnormal ear morphology	23291	FBXW11	OMIM:618914
HP:0031703	Abnormal ear morphology	79971	WLS	OMIM:619648
HP:0031703	Abnormal ear morphology	55252	ASXL2	OMIM:617190
HP:0031703	Abnormal ear morphology	84720	PIGO	ORPHA:247262
HP:0031703	Abnormal ear morphology	93210	PGAP3	ORPHA:247262
HP:0031703	Abnormal ear morphology	284098	PIGW	ORPHA:247262
HP:0031703	Abnormal ear morphology	27315	PGAP2	ORPHA:247262
HP:0031703	Abnormal ear morphology	55650	PIGV	ORPHA:247262
HP:0031703	Abnormal ear morphology	57479	PRR12	OMIM:619539
HP:0031703	Abnormal ear morphology	5455	POU3F3	OMIM:618604
HP:0031703	Abnormal ear morphology	1889	ECE1	OMIM:613870
HP:0031703	Abnormal ear morphology	1108	CHD4	OMIM:617159
HP:0031703	Abnormal ear morphology	23036	ZNF292	OMIM:619188
HP:0031703	Abnormal ear morphology	10075	HUWE1	OMIM:309590
HP:0031703	Abnormal ear morphology	3187	HNRNPH1	OMIM:620083
HP:0031703	Abnormal ear morphology	6611	SMS	ORPHA:3063
HP:0031703	Abnormal ear morphology	253738	EBF3	OMIM:617330
HP:0031703	Abnormal ear morphology	5792	PTPRF	OMIM:616001
HP:0031703	Abnormal ear morphology	51099	ABHD5	ORPHA:98907
HP:0031703	Abnormal ear morphology	284252	KCTD1	ORPHA:2036
HP:0031703	Abnormal ear morphology	284252	KCTD1	OMIM:181270
HP:0031703	Abnormal ear morphology	9896	FIG4	OMIM:216340
HP:0031703	Abnormal ear morphology	91179	SCARF2	OMIM:600920
HP:0031703	Abnormal ear morphology	7750	ZMYM2	OMIM:619522
HP:0031703	Abnormal ear morphology	27245	AHDC1	ORPHA:412069
HP:0031703	Abnormal ear morphology	27245	AHDC1	OMIM:615829
HP:0031703	Abnormal ear morphology	8241	RBM10	ORPHA:2886
HP:0031703	Abnormal ear morphology	1281	COL3A1	OMIM:130050
HP:0031703	Abnormal ear morphology	11285	B4GALT7	OMIM:130070
HP:0031703	Abnormal ear morphology	55628	ZNF407	OMIM:619557
HP:0031703	Abnormal ear morphology	545	ATR	ORPHA:808
HP:0031703	Abnormal ear morphology	5116	PCNT	ORPHA:808
HP:0031703	Abnormal ear morphology	5932	RBBP8	ORPHA:808
HP:0031703	Abnormal ear morphology	79902	NUP85	ORPHA:808
HP:0031703	Abnormal ear morphology	84126	ATRIP	ORPHA:808
HP:0031703	Abnormal ear morphology	55835	CENPJ	ORPHA:808
HP:0031703	Abnormal ear morphology	10293	TRAIP	ORPHA:808
HP:0031703	Abnormal ear morphology	22995	CEP152	ORPHA:808
HP:0031703	Abnormal ear morphology	10733	PLK4	ORPHA:808
HP:0031703	Abnormal ear morphology	9757	KMT2B	OMIM:619934
HP:0031703	Abnormal ear morphology	919	CD247	ORPHA:169160
HP:0031703	Abnormal ear morphology	64421	DCLRE1C	ORPHA:275
HP:0031703	Abnormal ear morphology	64421	DCLRE1C	OMIM:602450
HP:0031703	Abnormal ear morphology	4860	PNP	OMIM:613179
HP:0031703	Abnormal ear morphology	92579	G6PC3	OMIM:612541
HP:0031703	Abnormal ear morphology	3561	IL2RG	OMIM:312863
HP:0031703	Abnormal ear morphology	10312	TCIRG1	ORPHA:667
HP:0031703	Abnormal ear morphology	1186	CLCN7	ORPHA:667
HP:0031703	Abnormal ear morphology	29887	SNX10	ORPHA:667
HP:0031703	Abnormal ear morphology	8600	TNFSF11	ORPHA:667
HP:0031703	Abnormal ear morphology	11011	TLK2	OMIM:618050
HP:0031703	Abnormal ear morphology	641	BLM	ORPHA:125
HP:0031703	Abnormal ear morphology	5896	RAG1	OMIM:601457
HP:0031703	Abnormal ear morphology	5897	RAG2	OMIM:601457
HP:0031703	Abnormal ear morphology	7852	CXCR4	ORPHA:51636
HP:0031703	Abnormal ear morphology	165918	RNF168	ORPHA:420741
HP:0031703	Abnormal ear morphology	1536	CYBB	ORPHA:379
HP:0031703	Abnormal ear morphology	4688	NCF2	ORPHA:379
HP:0031703	Abnormal ear morphology	1535	CYBA	ORPHA:379
HP:0031703	Abnormal ear morphology	4689	NCF4	ORPHA:379
HP:0031703	Abnormal ear morphology	79415	CYBC1	ORPHA:379
HP:0031703	Abnormal ear morphology	1991	ELANE	ORPHA:2686
HP:0031703	Abnormal ear morphology	7456	WIPF1	ORPHA:906
HP:0031703	Abnormal ear morphology	6890	TAP1	OMIM:604571
HP:0031703	Abnormal ear morphology	6891	TAP2	OMIM:604571
HP:0031703	Abnormal ear morphology	6892	TAPBP	OMIM:604571
HP:0031703	Abnormal ear morphology	1493	CTLA4	ORPHA:900
HP:0031703	Abnormal ear morphology	3115	HLA-DPB1	ORPHA:900
HP:0031703	Abnormal ear morphology	5657	PRTN3	ORPHA:900
HP:0031703	Abnormal ear morphology	3113	HLA-DPA1	ORPHA:900
HP:0031703	Abnormal ear morphology	2624	GATA2	ORPHA:3226
HP:0031703	Abnormal ear morphology	25790	CFAP45	OMIM:619608
HP:0031703	Abnormal ear morphology	4952	OCRL	ORPHA:534
HP:0031703	Abnormal ear morphology	6774	STAT3	ORPHA:2314
HP:0031703	Abnormal ear morphology	23483	TGDS	ORPHA:1388
HP:0031703	Abnormal ear morphology	64359	NXN	ORPHA:1507
HP:0031703	Abnormal ear morphology	4920	ROR2	ORPHA:1507
HP:0031703	Abnormal ear morphology	8604	SLC25A12	OMIM:612949
HP:0031703	Abnormal ear morphology	9496	TBX4	ORPHA:261279
HP:0031703	Abnormal ear morphology	7161	TP73	OMIM:619466
HP:0031703	Abnormal ear morphology	146206	CARMIL2	OMIM:618131
HP:0031703	Abnormal ear morphology	860	RUNX2	ORPHA:1452
HP:0031703	Abnormal ear morphology	4790	NFKB1	ORPHA:1572
HP:0031703	Abnormal ear morphology	8742	TNFSF12	ORPHA:1572
HP:0031703	Abnormal ear morphology	931	MS4A1	ORPHA:1572
HP:0031703	Abnormal ear morphology	975	CD81	ORPHA:1572
HP:0031703	Abnormal ear morphology	359948	IRF2BP2	ORPHA:1572
HP:0031703	Abnormal ear morphology	204	AK2	ORPHA:33355
HP:0031703	Abnormal ear morphology	80267	EDEM3	OMIM:619493
HP:0031703	Abnormal ear morphology	94005	PIGS	OMIM:618143
HP:0031703	Abnormal ear morphology	5925	RB1	ORPHA:1587
HP:0031703	Abnormal ear morphology	5894	RAF1	OMIM:611553
HP:0031703	Abnormal ear morphology	5894	RAF1	ORPHA:648
HP:0031703	Abnormal ear morphology	22800	RRAS2	ORPHA:648
HP:0031703	Abnormal ear morphology	8216	LZTR1	ORPHA:648
HP:0031703	Abnormal ear morphology	6016	RIT1	ORPHA:648
HP:0031703	Abnormal ear morphology	6237	RRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	22808	MRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	200734	SPRED2	ORPHA:648
HP:0031703	Abnormal ear morphology	4893	NRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	6654	SOS1	ORPHA:648
HP:0031703	Abnormal ear morphology	6654	SOS1	OMIM:610733
HP:0031703	Abnormal ear morphology	6655	SOS2	ORPHA:648
HP:0031703	Abnormal ear morphology	5781	PTPN11	ORPHA:648
HP:0031703	Abnormal ear morphology	5922	RASA2	ORPHA:648
HP:0031703	Abnormal ear morphology	9719	ADAMTSL2	OMIM:231050
HP:0031703	Abnormal ear morphology	1000	CDH2	OMIM:618929
HP:0031703	Abnormal ear morphology	10220	GDF11	OMIM:619122
HP:0031703	Abnormal ear morphology	129563	DIS3L2	ORPHA:2849
HP:0031703	Abnormal ear morphology	64132	XYLT2	ORPHA:85194
HP:0031703	Abnormal ear morphology	92002	CCNQ	ORPHA:140952
HP:0031703	Abnormal ear morphology	92002	CCNQ	OMIM:300707
HP:0031703	Abnormal ear morphology	113246	C12orf57	OMIM:218340
HP:0031703	Abnormal ear morphology	1289	COL5A1	OMIM:130000
HP:0031703	Abnormal ear morphology	2121	EVC	OMIM:193530
HP:0031703	Abnormal ear morphology	132884	EVC2	OMIM:193530
HP:0031703	Abnormal ear morphology	23431	AP4E1	OMIM:613744
HP:0031703	Abnormal ear morphology	9230	RAB11B	OMIM:617807
HP:0031703	Abnormal ear morphology	60	ACTB	OMIM:243310
HP:0031703	Abnormal ear morphology	10771	ZMYND11	OMIM:616083
HP:0031703	Abnormal ear morphology	4774	NFIA	OMIM:613735
HP:0031703	Abnormal ear morphology	79848	CSPP1	ORPHA:397715
HP:0031703	Abnormal ear morphology	9786	KIAA0586	ORPHA:397715
HP:0031703	Abnormal ear morphology	55617	TASP1	OMIM:618950
HP:0031703	Abnormal ear morphology	2782	GNB1	ORPHA:488613
HP:0031703	Abnormal ear morphology	2782	GNB1	OMIM:616973
HP:0031703	Abnormal ear morphology	1376	CPT2	OMIM:608836
HP:0031703	Abnormal ear morphology	727857	BHLHA9	ORPHA:3329
HP:0031703	Abnormal ear morphology	738	VPS51	OMIM:618606
HP:0031703	Abnormal ear morphology	93986	FOXP2	ORPHA:209908
HP:0031703	Abnormal ear morphology	1147	CHUK	OMIM:619339
HP:0031703	Abnormal ear morphology	1656	DDX6	OMIM:618653
HP:0031703	Abnormal ear morphology	8621	CDK13	OMIM:617360
HP:0031703	Abnormal ear morphology	5277	PIGA	OMIM:300868
HP:0031703	Abnormal ear morphology	7043	TGFB3	OMIM:615582
HP:0031703	Abnormal ear morphology	55012	PPP2R3C	OMIM:618419
HP:0031703	Abnormal ear morphology	158326	FREM1	OMIM:608980
HP:0031703	Abnormal ear morphology	11113	CIT	OMIM:617090
HP:0031703	Abnormal ear morphology	11253	MAN1B1	ORPHA:397941
HP:0031703	Abnormal ear morphology	11253	MAN1B1	OMIM:614202
HP:0031703	Abnormal ear morphology	27316	RBMX	OMIM:300238
HP:0031703	Abnormal ear morphology	340533	NEXMIF	OMIM:300912
HP:0031703	Abnormal ear morphology	1139	CHRNA7	ORPHA:199318
HP:0031703	Abnormal ear morphology	23135	KDM6B	OMIM:618505
HP:0031703	Abnormal ear morphology	781	CACNA2D1	OMIM:620149
HP:0031703	Abnormal ear morphology	91801	ALKBH8	OMIM:618504
HP:0031703	Abnormal ear morphology	84942	WDR73	OMIM:251300
HP:0031703	Abnormal ear morphology	84942	WDR73	ORPHA:2065
HP:0031703	Abnormal ear morphology	1134	CHRNA1	OMIM:608930
HP:0031703	Abnormal ear morphology	4047	LSS	ORPHA:2850
HP:0031703	Abnormal ear morphology	197	AHSG	ORPHA:2850
HP:0031703	Abnormal ear morphology	3694	ITGB6	ORPHA:2850
HP:0031703	Abnormal ear morphology	2072	ERCC4	ORPHA:90321
HP:0031703	Abnormal ear morphology	10084	PQBP1	ORPHA:93950
HP:0031703	Abnormal ear morphology	10084	PQBP1	ORPHA:93945
HP:0031703	Abnormal ear morphology	10084	PQBP1	OMIM:309500
HP:0031703	Abnormal ear morphology	2067	ERCC1	ORPHA:90322
HP:0031703	Abnormal ear morphology	4983	OPHN1	OMIM:300486
HP:0031703	Abnormal ear morphology	10479	SLC9A6	OMIM:300243
HP:0031703	Abnormal ear morphology	10479	SLC9A6	ORPHA:85278
HP:0031703	Abnormal ear morphology	10300	KATNB1	OMIM:616212
HP:0031703	Abnormal ear morphology	7552	ZNF711	OMIM:300803
HP:0031703	Abnormal ear morphology	10730	YME1L1	OMIM:617302
HP:0031703	Abnormal ear morphology	55690	PACS1	OMIM:615009
HP:0031703	Abnormal ear morphology	55690	PACS1	ORPHA:329224
HP:0031703	Abnormal ear morphology	80055	PGAP1	OMIM:615802
HP:0031703	Abnormal ear morphology	84520	GON7	OMIM:619603
HP:0031703	Abnormal ear morphology	6023	RMRP	ORPHA:175
HP:0031703	Abnormal ear morphology	51360	MBTPS2	ORPHA:2273
HP:0031703	Abnormal ear morphology	25885	POLR1A	OMIM:616462
HP:0031703	Abnormal ear morphology	113189	CHST14	ORPHA:2953
HP:0031703	Abnormal ear morphology	29940	DSE	ORPHA:2953
HP:0031703	Abnormal ear morphology	9326	ZNHIT3	ORPHA:2836
HP:0031703	Abnormal ear morphology	547	KIF1A	ORPHA:2836
HP:0031703	Abnormal ear morphology	114034	TOE1	OMIM:614969
HP:0031703	Abnormal ear morphology	114034	TOE1	ORPHA:284339
HP:0031703	Abnormal ear morphology	83550	GPR101	ORPHA:963
HP:0031703	Abnormal ear morphology	9049	AIP	ORPHA:963
HP:0031703	Abnormal ear morphology	10555	AGPAT2	OMIM:608594
HP:0031703	Abnormal ear morphology	8726	EED	OMIM:617561
HP:0031703	Abnormal ear morphology	8726	EED	ORPHA:3447
HP:0031703	Abnormal ear morphology	1193	CLIC2	ORPHA:324410
HP:0031703	Abnormal ear morphology	1193	CLIC2	OMIM:300886
HP:0031703	Abnormal ear morphology	55714	TENM3	OMIM:615145
HP:0031703	Abnormal ear morphology	8036	SHOC2	ORPHA:2701
HP:0031703	Abnormal ear morphology	5500	PPP1CB	ORPHA:2701
HP:0031703	Abnormal ear morphology	25942	SIN3A	OMIM:613406
HP:0031703	Abnormal ear morphology	4247	MGAT2	OMIM:212066
HP:0031703	Abnormal ear morphology	165	AEBP1	ORPHA:536532
HP:0031703	Abnormal ear morphology	165	AEBP1	OMIM:618000
HP:0031703	Abnormal ear morphology	5373	PMM2	OMIM:212065
HP:0031703	Abnormal ear morphology	5373	PMM2	ORPHA:79318
HP:0031703	Abnormal ear morphology	26227	PHGDH	OMIM:256520
HP:0031703	Abnormal ear morphology	1182	CLCN3	OMIM:619512
HP:0031703	Abnormal ear morphology	29081	METTL5	OMIM:618665
HP:0031703	Abnormal ear morphology	388662	SLC6A17	ORPHA:457212
HP:0031703	Abnormal ear morphology	388662	SLC6A17	OMIM:616269
HP:0031703	Abnormal ear morphology	55773	TBC1D23	OMIM:617695
HP:0031703	Abnormal ear morphology	5063	PAK3	OMIM:300558
HP:0031703	Abnormal ear morphology	8905	AP1S2	ORPHA:85335
HP:0031703	Abnormal ear morphology	51633	OTUD6B	OMIM:617452
HP:0031703	Abnormal ear morphology	51633	OTUD6B	ORPHA:505237
HP:0031703	Abnormal ear morphology	6804	STX1A	ORPHA:904
HP:0031703	Abnormal ear morphology	7461	CLIP2	ORPHA:904
HP:0031703	Abnormal ear morphology	84277	DNAJC30	ORPHA:904
HP:0031703	Abnormal ear morphology	8468	FKBP6	ORPHA:904
HP:0031703	Abnormal ear morphology	5982	RFC2	ORPHA:904
HP:0031703	Abnormal ear morphology	2969	GTF2I	ORPHA:904
HP:0031703	Abnormal ear morphology	3984	LIMK1	ORPHA:904
HP:0031703	Abnormal ear morphology	9569	GTF2IRD1	ORPHA:904
HP:0031703	Abnormal ear morphology	155382	VPS37D	ORPHA:904
HP:0031703	Abnormal ear morphology	155368	METTL27	ORPHA:904
HP:0031703	Abnormal ear morphology	114049	BUD23	ORPHA:904
HP:0031703	Abnormal ear morphology	7458	EIF4H	ORPHA:904
HP:0031703	Abnormal ear morphology	84163	GTF2IRD2	ORPHA:904
HP:0031703	Abnormal ear morphology	9275	BCL7B	ORPHA:904
HP:0031703	Abnormal ear morphology	26608	TBL2	ORPHA:904
HP:0031703	Abnormal ear morphology	653361	NCF1	ORPHA:904
HP:0031703	Abnormal ear morphology	135886	TMEM270	ORPHA:904
HP:0031703	Abnormal ear morphology	9031	BAZ1B	ORPHA:904
HP:0031703	Abnormal ear morphology	116115	ZNF526	OMIM:619877
HP:0031703	Abnormal ear morphology	81031	SLC2A10	ORPHA:3342
HP:0031703	Abnormal ear morphology	81031	SLC2A10	OMIM:208050
HP:0031703	Abnormal ear morphology	6134	RPL10	ORPHA:459070
HP:0031703	Abnormal ear morphology	23345	SYNE1	ORPHA:319332
HP:0031703	Abnormal ear morphology	3675	ITGA3	OMIM:614748
HP:0031703	Abnormal ear morphology	5727	PTCH1	OMIM:610828
HP:0031703	Abnormal ear morphology	2736	GLI2	OMIM:610829
HP:0031703	Abnormal ear morphology	79759	ZNF668	OMIM:620194
HP:0031703	Abnormal ear morphology	9158	FIBP	OMIM:617107
HP:0031703	Abnormal ear morphology	9158	FIBP	ORPHA:500095
HP:0031703	Abnormal ear morphology	182	JAG1	OMIM:118450
HP:0031703	Abnormal ear morphology	63895	PIEZO2	ORPHA:1154
HP:0031703	Abnormal ear morphology	6901	TAFAZZIN	OMIM:302060
HP:0031703	Abnormal ear morphology	5832	ALDH18A1	OMIM:219150
HP:0031703	Abnormal ear morphology	84919	PPP1R15B	OMIM:616817
HP:0031703	Abnormal ear morphology	84919	PPP1R15B	ORPHA:391408
HP:0031703	Abnormal ear morphology	5295	PIK3R1	OMIM:269880
HP:0031703	Abnormal ear morphology	8573	CASK	ORPHA:163937
HP:0031703	Abnormal ear morphology	8573	CASK	OMIM:300749
HP:0031703	Abnormal ear morphology	8242	KDM5C	OMIM:300534
HP:0031703	Abnormal ear morphology	23007	PLCH1	OMIM:619895
HP:0031703	Abnormal ear morphology	254065	BRWD3	OMIM:300659
HP:0031703	Abnormal ear morphology	2146	EZH2	OMIM:277590
HP:0031703	Abnormal ear morphology	2146	EZH2	ORPHA:3447
HP:0031703	Abnormal ear morphology	23512	SUZ12	ORPHA:3447
HP:0031703	Abnormal ear morphology	10195	ALG3	OMIM:601110
HP:0031703	Abnormal ear morphology	7546	ZIC2	OMIM:609637
HP:0031703	Abnormal ear morphology	29123	ANKRD11	OMIM:148050
HP:0031703	Abnormal ear morphology	29123	ANKRD11	ORPHA:2332
HP:0031703	Abnormal ear morphology	58497	PRUNE1	OMIM:617481
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	OMIM:619420
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	OMIM:600118
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	ORPHA:2510
HP:0031703	Abnormal ear morphology	84188	FAR1	OMIM:616154
HP:0031703	Abnormal ear morphology	84188	FAR1	ORPHA:438178
HP:0031703	Abnormal ear morphology	867	CBL	OMIM:613563
HP:0031703	Abnormal ear morphology	22907	DHX30	OMIM:617804
HP:0031703	Abnormal ear morphology	7319	UBE2A	ORPHA:163956
HP:0031703	Abnormal ear morphology	8925	HERC1	OMIM:617011
HP:0031703	Abnormal ear morphology	8925	HERC1	ORPHA:457359
HP:0031703	Abnormal ear morphology	56896	DPYSL5	OMIM:619435
HP:0031703	Abnormal ear morphology	6418	SET	OMIM:618106
HP:0031703	Abnormal ear morphology	85358	SHANK3	OMIM:606232
HP:0031703	Abnormal ear morphology	85358	SHANK3	ORPHA:48652
HP:0031703	Abnormal ear morphology	1062	CENPE	OMIM:616051
HP:0031703	Abnormal ear morphology	57520	HECW2	OMIM:617268
HP:0031703	Abnormal ear morphology	9342	SNAP29	ORPHA:66631
HP:0031703	Abnormal ear morphology	23030	KDM4B	OMIM:619320
HP:0031703	Abnormal ear morphology	4953	ODC1	ORPHA:544488
HP:0031703	Abnormal ear morphology	1363	CPE	OMIM:619326
HP:0031703	Abnormal ear morphology	26128	KIFBP	ORPHA:66629
HP:0031703	Abnormal ear morphology	54820	NDE1	OMIM:605013
HP:0031703	Abnormal ear morphology	2720	GLB1	ORPHA:79255
HP:0031703	Abnormal ear morphology	3417	IDH1	ORPHA:99646
HP:0031703	Abnormal ear morphology	6904	TBCD	ORPHA:496641
HP:0031703	Abnormal ear morphology	4810	NHS	OMIM:302350
HP:0031703	Abnormal ear morphology	4204	MECP2	OMIM:300055
HP:0031703	Abnormal ear morphology	4204	MECP2	OMIM:300260
HP:0031703	Abnormal ear morphology	23221	RHOBTB2	OMIM:618004
HP:0031703	Abnormal ear morphology	24140	FTSJ1	OMIM:309549
HP:0031703	Abnormal ear morphology	4125	MAN2B1	OMIM:248500
HP:0031703	Abnormal ear morphology	92255	LMBRD2	OMIM:619694
HP:0031703	Abnormal ear morphology	8831	SYNGAP1	ORPHA:544254
HP:0031703	Abnormal ear morphology	3643	INSR	OMIM:246200
HP:0031703	Abnormal ear morphology	3643	INSR	ORPHA:769
HP:0031703	Abnormal ear morphology	5604	MAP2K1	ORPHA:1340
HP:0031703	Abnormal ear morphology	5605	MAP2K2	ORPHA:1340
HP:0031703	Abnormal ear morphology	3845	KRAS	ORPHA:1340
HP:0031703	Abnormal ear morphology	673	BRAF	ORPHA:1340
HP:0031703	Abnormal ear morphology	29920	PYCR2	ORPHA:481152
HP:0031703	Abnormal ear morphology	259232	NALCN	OMIM:615419
HP:0031703	Abnormal ear morphology	23389	MED13L	ORPHA:369891
HP:0031703	Abnormal ear morphology	23389	MED13L	OMIM:616789
HP:0031703	Abnormal ear morphology	6821	SUOX	OMIM:272300
HP:0031703	Abnormal ear morphology	23258	DENND5A	OMIM:617281
HP:0031703	Abnormal ear morphology	2068	ERCC2	OMIM:601675
HP:0031703	Abnormal ear morphology	80185	TTI2	OMIM:615541
HP:0031703	Abnormal ear morphology	80185	TTI2	ORPHA:391307
HP:0031703	Abnormal ear morphology	3758	KCNJ1	OMIM:241200
HP:0031703	Abnormal ear morphology	92949	ADAMTSL1	ORPHA:521445
HP:0031703	Abnormal ear morphology	57187	THOC2	ORPHA:457240
HP:0031703	Abnormal ear morphology	9791	PTDSS1	OMIM:151050
HP:0031703	Abnormal ear morphology	9791	PTDSS1	ORPHA:2658
HP:0031703	Abnormal ear morphology	8943	AP3D1	OMIM:617050
HP:0031703	Abnormal ear morphology	10526	IPO8	OMIM:619472
HP:0031703	Abnormal ear morphology	2892	GRIA3	ORPHA:364028
HP:0031703	Abnormal ear morphology	348180	CTU2	OMIM:618142
HP:0031703	Abnormal ear morphology	26580	BSCL2	OMIM:269700
HP:0031703	Abnormal ear morphology	25782	RAB3GAP2	OMIM:614225
HP:0031703	Abnormal ear morphology	25782	RAB3GAP2	ORPHA:2510
HP:0031703	Abnormal ear morphology	1859	DYRK1A	OMIM:614104
HP:0031703	Abnormal ear morphology	1861	TOR1A	OMIM:618947
HP:0031703	Abnormal ear morphology	22931	RAB18	OMIM:614222
HP:0031703	Abnormal ear morphology	22931	RAB18	ORPHA:2510
HP:0031703	Abnormal ear morphology	10283	CWC27	OMIM:250410
HP:0031703	Abnormal ear morphology	10283	CWC27	ORPHA:166035
HP:0031703	Abnormal ear morphology	6513	SLC2A1	ORPHA:168577
HP:0031703	Abnormal ear morphology	207	AKT1	ORPHA:744
HP:0031703	Abnormal ear morphology	63932	STEEP1	OMIM:301013
HP:0031703	Abnormal ear morphology	8720	MBTPS1	OMIM:618392
HP:0031703	Abnormal ear morphology	136647	MPLKIP	OMIM:234050
HP:0031703	Abnormal ear morphology	7204	TRIO	OMIM:617061
HP:0031703	Abnormal ear morphology	2222	FDFT1	OMIM:618156
HP:0031703	Abnormal ear morphology	6872	TAF1	OMIM:300966
HP:0031703	Abnormal ear morphology	374879	ZNF699	OMIM:619488
HP:0031703	Abnormal ear morphology	54870	QRICH1	OMIM:617982
HP:0031703	Abnormal ear morphology	2893	GRIA4	OMIM:617864
HP:0031703	Abnormal ear morphology	93587	TRMT10A	ORPHA:391408
HP:0031703	Abnormal ear morphology	6748	SSR4	ORPHA:370927
HP:0031703	Abnormal ear morphology	6748	SSR4	OMIM:300934
HP:0031703	Abnormal ear morphology	84295	PHF6	OMIM:301900
HP:0031703	Abnormal ear morphology	153241	CEP120	OMIM:616300
HP:0031703	Abnormal ear morphology	440	ASNS	OMIM:615574
HP:0031703	Abnormal ear morphology	55733	HHAT	ORPHA:1422
HP:0031703	Abnormal ear morphology	11043	MID2	OMIM:300928
HP:0031703	Abnormal ear morphology	4693	NDP	ORPHA:649
HP:0031703	Abnormal ear morphology	128637	TBC1D20	ORPHA:2510
HP:0031703	Abnormal ear morphology	9562	MINPP1	ORPHA:284339
HP:0031703	Abnormal ear morphology	55553	SOX6	OMIM:618971
HP:0031703	Abnormal ear morphology	55181	SMG8	OMIM:619268
HP:0031703	Abnormal ear morphology	1968	EIF2S3	OMIM:300148
HP:0031703	Abnormal ear morphology	51109	RDH11	ORPHA:436245
HP:0031703	Abnormal ear morphology	523	ATP6V1A	OMIM:617403
HP:0031703	Abnormal ear morphology	51002	TPRKB	ORPHA:2065
HP:0031703	Abnormal ear morphology	55644	OSGEP	ORPHA:2065
HP:0031703	Abnormal ear morphology	57122	NUP107	ORPHA:2065
HP:0031703	Abnormal ear morphology	10785	WDR4	ORPHA:2065
HP:0031703	Abnormal ear morphology	55746	NUP133	ORPHA:2065
HP:0031703	Abnormal ear morphology	112858	TP53RK	ORPHA:2065
HP:0031703	Abnormal ear morphology	8270	LAGE3	ORPHA:2065
HP:0031703	Abnormal ear morphology	27445	PCLO	OMIM:608027
HP:0031703	Abnormal ear morphology	25974	MMACHC	OMIM:277400
HP:0031703	Abnormal ear morphology	5052	PRDX1	OMIM:277400
HP:0031703	Abnormal ear morphology	9990	SLC12A6	OMIM:218000
HP:0031703	Abnormal ear morphology	9935	MAFB	ORPHA:233
HP:0031703	Abnormal ear morphology	1123	CHN1	ORPHA:233
HP:0031703	Abnormal ear morphology	64840	PORCN	OMIM:305600
HP:0031703	Abnormal ear morphology	9968	MED12	OMIM:300895
HP:0031703	Abnormal ear morphology	9968	MED12	ORPHA:93932
HP:0031703	Abnormal ear morphology	51434	ANAPC7	OMIM:619699
HP:0031703	Abnormal ear morphology	117581	TWIST2	OMIM:209885
HP:0031703	Abnormal ear morphology	6154	RPL26	OMIM:614900
HP:0031703	Abnormal ear morphology	3166	HMX1	OMIM:612109
HP:0031703	Abnormal ear morphology	6913	TBX15	ORPHA:93333
HP:0031703	Abnormal ear morphology	6913	TBX15	OMIM:260660
HP:0031703	Abnormal ear morphology	6558	SLC12A2	OMIM:619080
HP:0031703	Abnormal ear morphology	1294	COL7A1	ORPHA:79409
HP:0031703	Abnormal ear morphology	4094	MAF	ORPHA:1272
HP:0031703	Abnormal ear morphology	3199	HOXA2	OMIM:612290
HP:0031703	Abnormal ear morphology	114928	GPRASP2	OMIM:301018
HP:0031703	Abnormal ear morphology	6234	RPS28	OMIM:606164
HP:0031703	Abnormal ear morphology	100	ADA	ORPHA:277
HP:0031703	Abnormal ear morphology	4791	NFKB2	ORPHA:293978
HP:0031703	Abnormal ear morphology	4791	NFKB2	OMIM:615577
HP:0031703	Abnormal ear morphology	3071	NCKAP1L	OMIM:618982
HP:0031703	Abnormal ear morphology	8367	H4C5	OMIM:619950
HP:0031703	Abnormal ear morphology	5728	PTEN	OMIM:605309
HP:0031703	Abnormal ear morphology	5880	RAC2	OMIM:618986
HP:0031703	Abnormal ear morphology	987	LRBA	OMIM:614700
HP:0031703	Abnormal ear morphology	64682	ANAPC1	OMIM:618625
HP:0031703	Abnormal ear morphology	7174	TPP2	ORPHA:444463
HP:0031703	Abnormal ear morphology	7174	TPP2	OMIM:619220
HP:0031703	Abnormal ear morphology	9839	ZEB2	OMIM:235730
HP:0031703	Abnormal ear morphology	9839	ZEB2	ORPHA:261552
HP:0031703	Abnormal ear morphology	9839	ZEB2	ORPHA:261537
HP:0031703	Abnormal ear morphology	80232	WDR26	ORPHA:513456
HP:0031703	Abnormal ear morphology	80232	WDR26	OMIM:617616
HP:0031703	Abnormal ear morphology	89765	RSPH1	OMIM:615481
HP:0031703	Abnormal ear morphology	89765	RSPH1	ORPHA:244
HP:0031703	Abnormal ear morphology	161582	DNAAF4	OMIM:615482
HP:0031703	Abnormal ear morphology	161582	DNAAF4	ORPHA:244
HP:0031703	Abnormal ear morphology	9578	CDC42BPB	OMIM:619841
HP:0031703	Abnormal ear morphology	4487	MSX1	ORPHA:199306
HP:0031703	Abnormal ear morphology	5818	NECTIN1	ORPHA:199306
HP:0031703	Abnormal ear morphology	1739	DLG1	ORPHA:199306
HP:0031703	Abnormal ear morphology	652	BMP4	ORPHA:199306
HP:0031703	Abnormal ear morphology	8626	TP63	ORPHA:199306
HP:0031703	Abnormal ear morphology	8626	TP63	OMIM:129400
HP:0031703	Abnormal ear morphology	999	CDH1	ORPHA:199306
HP:0031703	Abnormal ear morphology	5156	PDGFRA	ORPHA:199306
HP:0031703	Abnormal ear morphology	3664	IRF6	ORPHA:199306
HP:0031703	Abnormal ear morphology	9411	ARHGAP29	ORPHA:199306
HP:0031703	Abnormal ear morphology	1748	DLX4	ORPHA:199306
HP:0031703	Abnormal ear morphology	51111	KMT5B	OMIM:617788
HP:0031703	Abnormal ear morphology	146845	CFAP52	OMIM:619607
HP:0031703	Abnormal ear morphology	973	CD79A	OMIM:613501
HP:0031703	Abnormal ear morphology	3543	IGLL1	OMIM:613500
HP:0031703	Abnormal ear morphology	6595	SMARCA2	ORPHA:2728
HP:0031703	Abnormal ear morphology	144568	A2ML1	OMIM:166760
HP:0031703	Abnormal ear morphology	29760	BLNK	OMIM:613502
HP:0031703	Abnormal ear morphology	79158	GNPTAB	OMIM:252500
HP:0031703	Abnormal ear morphology	8382	NME5	OMIM:620032
HP:0031703	Abnormal ear morphology	1301	COL11A1	OMIM:154780
HP:0031703	Abnormal ear morphology	54	ACP5	OMIM:607944
HP:0031703	Abnormal ear morphology	56992	KIF15	ORPHA:261323
HP:0031703	Abnormal ear morphology	23495	TNFRSF13B	OMIM:240500
HP:0031703	Abnormal ear morphology	115650	TNFRSF13C	OMIM:240500
HP:0031703	Abnormal ear morphology	1380	CR2	OMIM:240500
HP:0031703	Abnormal ear morphology	29851	ICOS	OMIM:240500
HP:0031703	Abnormal ear morphology	29851	ICOS	OMIM:607594
HP:0031703	Abnormal ear morphology	930	CD19	OMIM:240500
HP:0031703	Abnormal ear morphology	930	CD19	OMIM:613493
HP:0031703	Abnormal ear morphology	123872	DNAAF1	OMIM:613193
HP:0031703	Abnormal ear morphology	123872	DNAAF1	ORPHA:244
HP:0031703	Abnormal ear morphology	284058	KANSL1	ORPHA:363958
HP:0031703	Abnormal ear morphology	284058	KANSL1	ORPHA:363965
HP:0031703	Abnormal ear morphology	3572	IL6ST	OMIM:618523
HP:0031703	Abnormal ear morphology	8546	AP3B1	OMIM:608233
HP:0031703	Abnormal ear morphology	1717	DHCR7	OMIM:270400
HP:0031703	Abnormal ear morphology	6899	TBX1	OMIM:188400
HP:0031703	Abnormal ear morphology	28755	TRAC	OMIM:615387
HP:0031703	Abnormal ear morphology	6885	MAP3K7	OMIM:157800
HP:0031703	Abnormal ear morphology	2783	GNB2	OMIM:619503
HP:0031703	Abnormal ear morphology	3425	IDUA	OMIM:607014
HP:0031703	Abnormal ear morphology	2214	FCGR3A	OMIM:615707
HP:0031703	Abnormal ear morphology	30011	SH3KBP1	OMIM:300310
HP:0031703	Abnormal ear morphology	2261	FGFR3	OMIM:616482
HP:0031703	Abnormal ear morphology	2261	FGFR3	OMIM:100800
HP:0031703	Abnormal ear morphology	2261	FGFR3	OMIM:602849
HP:0031703	Abnormal ear morphology	83861	RSPH3	OMIM:616481
HP:0031703	Abnormal ear morphology	83861	RSPH3	ORPHA:244
HP:0031703	Abnormal ear morphology	56006	SMG9	OMIM:619995
HP:0031703	Abnormal ear morphology	8260	NAA10	OMIM:309800
HP:0031703	Abnormal ear morphology	8260	NAA10	OMIM:300855
HP:0031703	Abnormal ear morphology	54880	BCOR	OMIM:309800
HP:0031703	Abnormal ear morphology	54914	FOCAD	OMIM:619991
HP:0031703	Abnormal ear morphology	6135	RPL11	OMIM:612562
HP:0031703	Abnormal ear morphology	64446	DNAI2	OMIM:612444
HP:0031703	Abnormal ear morphology	64446	DNAI2	ORPHA:244
HP:0031703	Abnormal ear morphology	8364	H4C3	OMIM:619758
HP:0031703	Abnormal ear morphology	54499	TMCO1	OMIM:213980
HP:0031703	Abnormal ear morphology	55343	SLC35C1	OMIM:266265
HP:0031703	Abnormal ear morphology	55343	SLC35C1	ORPHA:99843
HP:0031703	Abnormal ear morphology	3507	IGHM	OMIM:601495
HP:0031703	Abnormal ear morphology	8314	BAP1	OMIM:619762
HP:0031703	Abnormal ear morphology	27086	FOXP1	ORPHA:391372
HP:0031703	Abnormal ear morphology	5594	MAPK1	OMIM:619087
HP:0031703	Abnormal ear morphology	5971	RELB	OMIM:617585
HP:0031703	Abnormal ear morphology	4256	MGP	ORPHA:85202
HP:0031703	Abnormal ear morphology	4256	MGP	OMIM:245150
HP:0031703	Abnormal ear morphology	974	CD79B	OMIM:612692
HP:0031703	Abnormal ear morphology	113179	ADAT3	OMIM:615286
HP:0031703	Abnormal ear morphology	113179	ADAT3	ORPHA:363528
HP:0031703	Abnormal ear morphology	54919	DNAAF5	OMIM:614874
HP:0031703	Abnormal ear morphology	54919	DNAAF5	ORPHA:244
HP:0031703	Abnormal ear morphology	2542	SLC37A4	OMIM:619525
HP:0031703	Abnormal ear morphology	917	CD3G	OMIM:615607
HP:0031703	Abnormal ear morphology	51085	MLXIPL	OMIM:194050
HP:0031703	Abnormal ear morphology	2006	ELN	OMIM:194050
HP:0031703	Abnormal ear morphology	11128	POLR3A	ORPHA:3455
HP:0031703	Abnormal ear morphology	3373	HYAL1	OMIM:601492
HP:0031703	Abnormal ear morphology	2535	FZD2	OMIM:164745
HP:0031703	Abnormal ear morphology	7030	TFE3	OMIM:301066
HP:0031703	Abnormal ear morphology	92749	DRC1	OMIM:615294
HP:0031703	Abnormal ear morphology	92749	DRC1	ORPHA:244
HP:0031703	Abnormal ear morphology	3978	LIG1	OMIM:619774
HP:0031703	Abnormal ear morphology	3423	IDS	OMIM:309900
HP:0031703	Abnormal ear morphology	6603	SMARCD2	OMIM:617475
HP:0031703	Abnormal ear morphology	84522	JAGN1	OMIM:616022
HP:0031703	Abnormal ear morphology	6929	TCF3	OMIM:616941
HP:0031703	Abnormal ear morphology	7994	KAT6A	OMIM:616268
HP:0031703	Abnormal ear morphology	3551	IKBKB	OMIM:618204
HP:0031703	Abnormal ear morphology	916	CD3E	OMIM:615615
HP:0031703	Abnormal ear morphology	3930	LBR	OMIM:169400
HP:0031703	Abnormal ear morphology	246176	GAS2L2	OMIM:618449
HP:0031703	Abnormal ear morphology	246176	GAS2L2	ORPHA:244
HP:0031703	Abnormal ear morphology	915	CD3D	OMIM:615617
HP:0031703	Abnormal ear morphology	3514	IGKC	ORPHA:183675
HP:0031703	Abnormal ear morphology	3501	IGHG2	ORPHA:183675
HP:0031703	Abnormal ear morphology	51311	TLR8	OMIM:301078
HP:0031703	Abnormal ear morphology	25981	DNAH1	ORPHA:244
HP:0031703	Abnormal ear morphology	115948	ODAD3	ORPHA:244
HP:0031703	Abnormal ear morphology	115948	ODAD3	OMIM:616037
HP:0031703	Abnormal ear morphology	54768	HYDIN	ORPHA:244
HP:0031703	Abnormal ear morphology	54768	HYDIN	OMIM:608647
HP:0031703	Abnormal ear morphology	352909	DNAAF3	ORPHA:244
HP:0031703	Abnormal ear morphology	27148	STK36	ORPHA:244
HP:0031703	Abnormal ear morphology	27148	STK36	OMIM:619436
HP:0031703	Abnormal ear morphology	51314	NME8	ORPHA:244
HP:0031703	Abnormal ear morphology	54970	TTC12	ORPHA:244
HP:0031703	Abnormal ear morphology	152110	NEK10	ORPHA:244
HP:0031703	Abnormal ear morphology	8481	OFD1	ORPHA:244
HP:0031703	Abnormal ear morphology	2302	FOXJ1	ORPHA:244
HP:0031703	Abnormal ear morphology	221421	RSPH9	ORPHA:244
HP:0031703	Abnormal ear morphology	85478	CCDC65	ORPHA:244
HP:0031703	Abnormal ear morphology	85478	CCDC65	OMIM:615504
HP:0031703	Abnormal ear morphology	55036	CCDC40	ORPHA:244
HP:0031703	Abnormal ear morphology	55036	CCDC40	OMIM:613808
HP:0031703	Abnormal ear morphology	51364	ZMYND10	ORPHA:244
HP:0031703	Abnormal ear morphology	51364	ZMYND10	OMIM:615444
HP:0031703	Abnormal ear morphology	6674	SPAG1	ORPHA:244
HP:0031703	Abnormal ear morphology	6674	SPAG1	OMIM:615505
HP:0031703	Abnormal ear morphology	83544	DNAL1	ORPHA:244
HP:0031703	Abnormal ear morphology	83538	ODAD4	ORPHA:244
HP:0031703	Abnormal ear morphology	200373	CFAP221	ORPHA:244
HP:0031703	Abnormal ear morphology	374407	DNAJB13	ORPHA:244
HP:0031703	Abnormal ear morphology	55172	DNAAF2	ORPHA:244
HP:0031703	Abnormal ear morphology	2622	GAS8	ORPHA:244
HP:0031703	Abnormal ear morphology	2622	GAS8	OMIM:616726
HP:0031703	Abnormal ear morphology	23639	DNAAF11	ORPHA:244
HP:0031703	Abnormal ear morphology	23639	DNAAF11	OMIM:614935
HP:0031703	Abnormal ear morphology	27019	DNAI1	ORPHA:244
HP:0031703	Abnormal ear morphology	345895	RSPH4A	ORPHA:244
HP:0031703	Abnormal ear morphology	6103	RPGR	ORPHA:244
HP:0031703	Abnormal ear morphology	388389	CCDC103	ORPHA:244
HP:0031703	Abnormal ear morphology	388389	CCDC103	OMIM:614679
HP:0031703	Abnormal ear morphology	93233	ODAD1	ORPHA:244
HP:0031703	Abnormal ear morphology	93233	ODAD1	OMIM:615067
HP:0031703	Abnormal ear morphology	55130	ODAD2	ORPHA:244
HP:0031703	Abnormal ear morphology	55130	ODAD2	OMIM:615451
HP:0031703	Abnormal ear morphology	1767	DNAH5	ORPHA:244
HP:0031703	Abnormal ear morphology	1767	DNAH5	OMIM:608644
HP:0031703	Abnormal ear morphology	345643	MCIDAS	ORPHA:244
HP:0031703	Abnormal ear morphology	56683	CFAP298	ORPHA:244
HP:0031703	Abnormal ear morphology	56683	CFAP298	OMIM:615500
HP:0031703	Abnormal ear morphology	79925	SPEF2	ORPHA:244
HP:0031703	Abnormal ear morphology	10309	CCNO	ORPHA:244
HP:0031703	Abnormal ear morphology	115399	LRRC56	ORPHA:244
HP:0031703	Abnormal ear morphology	115399	LRRC56	OMIM:618254
HP:0031703	Abnormal ear morphology	139212	DNAAF6	ORPHA:244
HP:0031703	Abnormal ear morphology	85016	CFAP300	ORPHA:244
HP:0031703	Abnormal ear morphology	339829	CCDC39	ORPHA:244
HP:0031703	Abnormal ear morphology	8701	DNAH11	ORPHA:244
HP:0031703	Abnormal ear morphology	8701	DNAH11	OMIM:611884
HP:0031703	Abnormal ear morphology	1770	DNAH9	ORPHA:244
HP:0031703	Abnormal ear morphology	81704	DOCK8	OMIM:243700
HP:0031703	Abnormal ear morphology	2742	GLRA2	OMIM:301076
HP:0031703	Abnormal ear morphology	55023	PHIP	ORPHA:589905
HP:0031703	Abnormal ear morphology	29072	SETD2	OMIM:616831
HP:0031703	Abnormal ear morphology	2316	FLNA	OMIM:309350
HP:0031703	Abnormal ear morphology	1642	DDB1	OMIM:619426
HP:0031703	Abnormal ear morphology	388015	RTL1	ORPHA:254531
HP:0031703	Abnormal ear morphology	388015	RTL1	ORPHA:96184
HP:0031703	Abnormal ear morphology	8788	DLK1	ORPHA:254531
HP:0031703	Abnormal ear morphology	8788	DLK1	ORPHA:96184
HP:0031703	Abnormal ear morphology	55384	MEG3	ORPHA:254531
HP:0031703	Abnormal ear morphology	55384	MEG3	ORPHA:96184
HP:0031703	Abnormal ear morphology	695	BTK	OMIM:300755
HP:0031703	Abnormal ear morphology	695	BTK	OMIM:307200
HP:0031703	Abnormal ear morphology	4683	NBN	OMIM:251260
HP:0031703	Abnormal ear morphology	10806	SDCCAG8	OMIM:615993
HP:0031703	Abnormal ear morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0031703	Abnormal ear morphology	100151683	RNU4ATAC	OMIM:616651
HP:0031703	Abnormal ear morphology	3426	CFI	OMIM:610984
HP:0031703	Abnormal ear morphology	9094	UNC119	OMIM:615518
HP:0031703	Abnormal ear morphology	79650	USB1	OMIM:604173
HP:0031703	Abnormal ear morphology	7314	UBB	ORPHA:99772
HP:0031703	Abnormal ear morphology	57822	GRHL3	ORPHA:99772
HP:0031703	Abnormal ear morphology	5575	PRKAR1B	OMIM:619680
HP:0031703	Abnormal ear morphology	10847	SRCAP	OMIM:136140
HP:0031703	Abnormal ear morphology	3718	JAK3	OMIM:600802
HP:0031703	Abnormal ear morphology	11151	CORO1A	OMIM:615401
HP:0031703	Abnormal ear morphology	4297	KMT2A	OMIM:605130
HP:0031703	Abnormal ear morphology	57551	TAOK1	OMIM:619575
HP:0031703	Abnormal ear morphology	84061	MAGT1	OMIM:300853
HP:0031703	Abnormal ear morphology	2332	FMR1	ORPHA:449291
HP:0031703	Abnormal ear morphology	6045	RNF2	OMIM:619460
HP:0031703	Abnormal ear morphology	1280	COL2A1	OMIM:156550
HP:0031703	Abnormal ear morphology	5718	PSMD12	ORPHA:529962
HP:0031703	Abnormal ear morphology	2186	BPTF	ORPHA:529962
HP:0031703	Abnormal ear morphology	1822	ATN1	OMIM:618494
HP:0031703	Abnormal ear morphology	7403	KDM6A	OMIM:300867
HP:0031703	Abnormal ear morphology	7403	KDM6A	OMIM:147920
HP:0031703	Abnormal ear morphology	3560	IL2RB	OMIM:618495
HP:0031703	Abnormal ear morphology	7454	WAS	OMIM:301000
HP:0031703	Abnormal ear morphology	57003	CCDC47	OMIM:618268
HP:0031703	Abnormal ear morphology	5977	DPF2	OMIM:618027
HP:0031703	Abnormal ear morphology	55329	MNS1	OMIM:618948
HP:0031703	Abnormal ear morphology	5580	PRKCD	OMIM:615559
HP:0031703	Abnormal ear morphology	920	CD4	OMIM:619238
HP:0031703	Abnormal ear morphology	5336	PLCG2	OMIM:614468
HP:0031703	Abnormal ear morphology	3570	IL6R	OMIM:618944
HP:0031703	Abnormal ear morphology	3575	IL7R	OMIM:608971
HP:0031703	Abnormal ear morphology	23112	TNRC6B	OMIM:619243
HP:0031703	Abnormal ear morphology	51816	ADA2	OMIM:615688
HP:0031703	Abnormal ear morphology	50615	IL21R	OMIM:615207
HP:0031703	Abnormal ear morphology	5294	PIK3CG	OMIM:619802
HP:0031703	Abnormal ear morphology	2799	GNS	OMIM:252940
HP:0031703	Abnormal ear morphology	10551	AGR2	OMIM:620233
HP:0031703	Abnormal ear morphology	84905	ZNF341	OMIM:618282
HP:0031703	Abnormal ear morphology	5879	RAC1	OMIM:617751
HP:0031703	Abnormal ear morphology	5879	RAC1	ORPHA:500159
HP:0031703	Abnormal ear morphology	2990	GUSB	OMIM:253220
HP:0031703	Abnormal ear morphology	5236	PGM1	OMIM:614921
HP:0031703	Abnormal ear morphology	23765	IL17RA	OMIM:613953
HP:0031703	Abnormal ear morphology	6850	SYK	OMIM:619381
HP:0031703	Abnormal ear morphology	341208	HEPHL1	OMIM:261990
HP:0031703	Abnormal ear morphology	721	C4B	OMIM:614379
HP:0031703	Abnormal ear morphology	1794	DOCK2	OMIM:616433
HP:0031703	Abnormal ear morphology	6736	SRY	ORPHA:1772
HP:0031703	Abnormal ear morphology	5130	PCYT1A	OMIM:608940
HP:0031703	Abnormal ear morphology	5696	PSMB8	OMIM:256040
HP:0031703	Abnormal ear morphology	8085	KMT2D	OMIM:147920
HP:0031703	Abnormal ear morphology	26191	PTPN22	ORPHA:397
HP:0031703	Abnormal ear morphology	3106	HLA-B	ORPHA:397
HP:0031703	Abnormal ear morphology	3123	HLA-DRB1	ORPHA:397
HP:0031703	Abnormal ear morphology	8974	P4HA2	ORPHA:397
HP:0031703	Abnormal ear morphology	10194	TSHZ1	OMIM:607842
HP:0031703	Abnormal ear morphology	341640	FREM2	ORPHA:2052
HP:0031703	Abnormal ear morphology	80144	FRAS1	ORPHA:2052
HP:0031703	Abnormal ear morphology	80144	FRAS1	OMIM:219000
HP:0031703	Abnormal ear morphology	23426	GRIP1	ORPHA:2052
HP:0031703	Abnormal ear morphology	10262	SF3B4	OMIM:154400
HP:0031703	Abnormal ear morphology	23019	CNOT1	OMIM:618500
HP:0031703	Abnormal ear morphology	2697	GJA1	ORPHA:1522
HP:0031703	Abnormal ear morphology	2697	GJA1	ORPHA:2710
HP:0031703	Abnormal ear morphology	2697	GJA1	OMIM:164200
HP:0031703	Abnormal ear morphology	56172	ANKH	ORPHA:1522
HP:0031703	Abnormal ear morphology	1161	ERCC8	ORPHA:90324
HP:0031703	Abnormal ear morphology	2074	ERCC6	ORPHA:90324
HP:0031703	Abnormal ear morphology	6228	RPS23	OMIM:617412
HP:0031703	Abnormal ear morphology	5238	PGM3	ORPHA:443811
HP:0031703	Abnormal ear morphology	5238	PGM3	OMIM:615816
HP:0031703	Abnormal ear morphology	145173	B3GLCT	ORPHA:709
HP:0031703	Abnormal ear morphology	10992	SF3B2	OMIM:164210
HP:0031703	Abnormal ear morphology	91147	TMEM67	OMIM:602152
HP:0031703	Abnormal ear morphology	64324	NSD1	ORPHA:821
HP:0031703	Abnormal ear morphology	64324	NSD1	OMIM:117550
HP:0031703	Abnormal ear morphology	10297	APC2	ORPHA:821
HP:0031703	Abnormal ear morphology	5447	POR	ORPHA:95699
HP:0031703	Abnormal ear morphology	5447	POR	OMIM:201750
HP:0031703	Abnormal ear morphology	3190	HNRNPK	ORPHA:453504
HP:0031703	Abnormal ear morphology	3190	HNRNPK	ORPHA:352665
HP:0031703	Abnormal ear morphology	8792	TNFRSF11A	OMIM:174810
HP:0031703	Abnormal ear morphology	1855	DVL1	OMIM:616331
HP:0031703	Abnormal ear morphology	1723	DHODH	OMIM:263750
HP:0031703	Abnormal ear morphology	1723	DHODH	ORPHA:246
HP:0031703	Abnormal ear morphology	63916	ELMO2	ORPHA:3019
HP:0031703	Abnormal ear morphology	2314	FLII	ORPHA:819
HP:0031703	Abnormal ear morphology	23096	IQSEC2	ORPHA:819
HP:0031703	Abnormal ear morphology	10743	RAI1	ORPHA:819
HP:0031703	Abnormal ear morphology	10522	DEAF1	ORPHA:819
HP:0031703	Abnormal ear morphology	6662	SOX9	OMIM:114290
HP:0031703	Abnormal ear morphology	9382	COG1	OMIM:611209
HP:0031703	Abnormal ear morphology	50964	SOST	ORPHA:1513
HP:0031703	Abnormal ear morphology	1500	CTNND1	ORPHA:1997
HP:0031703	Abnormal ear morphology	2188	FANCF	OMIM:603467
HP:0031703	Abnormal ear morphology	1146	CHRNG	OMIM:265000
HP:0031703	Abnormal ear morphology	1146	CHRNG	ORPHA:2990
HP:0031703	Abnormal ear morphology	90	ACVR1	OMIM:135100
HP:0031703	Abnormal ear morphology	2590	GALNT2	OMIM:618885
HP:0031703	Abnormal ear morphology	4853	NOTCH2	OMIM:102500
HP:0031703	Abnormal ear morphology	90993	CREB3L1	OMIM:616229
HP:0031703	Abnormal ear morphology	7428	VHL	ORPHA:276621
HP:0031703	Abnormal ear morphology	7428	VHL	ORPHA:29072
HP:0031703	Abnormal ear morphology	5979	RET	ORPHA:276621
HP:0031703	Abnormal ear morphology	5979	RET	ORPHA:29072
HP:0031703	Abnormal ear morphology	1788	DNMT3A	ORPHA:276621
HP:0031703	Abnormal ear morphology	2034	EPAS1	ORPHA:276621
HP:0031703	Abnormal ear morphology	6392	SDHD	ORPHA:276621
HP:0031703	Abnormal ear morphology	6392	SDHD	OMIM:168000
HP:0031703	Abnormal ear morphology	6392	SDHD	ORPHA:29072
HP:0031703	Abnormal ear morphology	6390	SDHB	ORPHA:276621
HP:0031703	Abnormal ear morphology	6390	SDHB	ORPHA:29072
HP:0031703	Abnormal ear morphology	7020	TFAP2A	OMIM:113620
HP:0031703	Abnormal ear morphology	7020	TFAP2A	ORPHA:1297
HP:0031703	Abnormal ear morphology	9401	RECQL4	OMIM:218600
HP:0031703	Abnormal ear morphology	9401	RECQL4	ORPHA:1225
HP:0031703	Abnormal ear morphology	23347	SMCHD1	OMIM:603457
HP:0031703	Abnormal ear morphology	57167	SALL4	ORPHA:959
HP:0031703	Abnormal ear morphology	83879	CDCA7	OMIM:616910
HP:0031703	Abnormal ear morphology	8642	DCHS1	OMIM:601390
HP:0031703	Abnormal ear morphology	8642	DCHS1	ORPHA:314679
HP:0031703	Abnormal ear morphology	53834	FGFRL1	OMIM:194190
HP:0031703	Abnormal ear morphology	1487	CTBP1	OMIM:194190
HP:0031703	Abnormal ear morphology	3954	LETM1	OMIM:194190
HP:0031703	Abnormal ear morphology	7468	NSD2	OMIM:194190
HP:0031703	Abnormal ear morphology	10815	CPLX1	OMIM:194190
HP:0031703	Abnormal ear morphology	10815	CPLX1	OMIM:617976
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:185800
HP:0031703	Abnormal ear morphology	9241	NOG	ORPHA:3237
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:184460
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:186500
HP:0031703	Abnormal ear morphology	8200	GDF5	ORPHA:3237
HP:0031703	Abnormal ear morphology	2254	FGF9	ORPHA:3237
HP:0031703	Abnormal ear morphology	392255	GDF6	OMIM:118100
HP:0031703	Abnormal ear morphology	3590	IL11RA	OMIM:614188
HP:0031703	Abnormal ear morphology	9508	ADAMTS3	ORPHA:2136
HP:0031703	Abnormal ear morphology	147372	CCBE1	ORPHA:2136
HP:0031703	Abnormal ear morphology	147372	CCBE1	OMIM:235510
HP:0031703	Abnormal ear morphology	79633	FAT4	ORPHA:2136
HP:0031703	Abnormal ear morphology	79633	FAT4	ORPHA:314679
HP:0031703	Abnormal ear morphology	79633	FAT4	OMIM:615546
HP:0031703	Abnormal ear morphology	1909	EDNRA	OMIM:616367
HP:0031703	Abnormal ear morphology	1743	DLST	ORPHA:29072
HP:0031703	Abnormal ear morphology	4191	MDH2	ORPHA:29072
HP:0031703	Abnormal ear morphology	6389	SDHA	ORPHA:29072
HP:0031703	Abnormal ear morphology	23095	KIF1B	ORPHA:29072
HP:0031703	Abnormal ear morphology	2271	FH	ORPHA:29072
HP:0031703	Abnormal ear morphology	8402	SLC25A11	ORPHA:29072
HP:0031703	Abnormal ear morphology	54949	SDHAF2	ORPHA:29072
HP:0031703	Abnormal ear morphology	55654	TMEM127	ORPHA:29072
HP:0031703	Abnormal ear morphology	4763	NF1	ORPHA:29072
HP:0031703	Abnormal ear morphology	6391	SDHC	ORPHA:29072
HP:0031703	Abnormal ear morphology	4149	MAX	ORPHA:29072
HP:0031703	Abnormal ear morphology	5590	PRKCZ	ORPHA:1606
HP:0031703	Abnormal ear morphology	2563	GABRD	ORPHA:1606
HP:0031703	Abnormal ear morphology	23013	SPEN	ORPHA:1606
HP:0031703	Abnormal ear morphology	23013	SPEN	OMIM:619312
HP:0031703	Abnormal ear morphology	8510	MMP23B	ORPHA:1606
HP:0031703	Abnormal ear morphology	7798	LUZP1	ORPHA:1606
HP:0031703	Abnormal ear morphology	6497	SKI	ORPHA:1606
HP:0031703	Abnormal ear morphology	6497	SKI	ORPHA:2462
HP:0031703	Abnormal ear morphology	6497	SKI	OMIM:182212
HP:0031703	Abnormal ear morphology	10630	PDPN	ORPHA:1606
HP:0031703	Abnormal ear morphology	3339	HSPG2	ORPHA:1606
HP:0031703	Abnormal ear morphology	10277	UBE4B	ORPHA:1606
HP:0031703	Abnormal ear morphology	8514	KCNAB2	ORPHA:1606
HP:0031703	Abnormal ear morphology	473	RERE	ORPHA:1606
HP:0031703	Abnormal ear morphology	63976	PRDM16	ORPHA:1606
HP:0031703	Abnormal ear morphology	54897	CASZ1	ORPHA:1606
HP:0031703	Abnormal ear morphology	145258	GSC	OMIM:602471
HP:0031703	Abnormal ear morphology	10907	TXNL4A	OMIM:608572
HP:0031703	Abnormal ear morphology	6628	SNRPB	ORPHA:1393
HP:0031703	Abnormal ear morphology	6628	SNRPB	OMIM:117650
HP:0031703	Abnormal ear morphology	4849	CNOT3	OMIM:618672
HP:0031703	Abnormal ear morphology	2255	FGF10	ORPHA:2363
HP:0031703	Abnormal ear morphology	6231	RPS26	OMIM:613309
HP:0031703	Abnormal ear morphology	11107	PRDM5	ORPHA:90354
HP:0031703	Abnormal ear morphology	84627	ZNF469	ORPHA:90354
HP:0031703	Abnormal ear morphology	6949	TCOF1	OMIM:154500
HP:0031703	Abnormal ear morphology	6949	TCOF1	ORPHA:861
HP:0031703	Abnormal ear morphology	25836	NIPBL	OMIM:122470
HP:0031703	Abnormal ear morphology	25836	NIPBL	ORPHA:199
HP:0031703	Abnormal ear morphology	50945	TBX22	ORPHA:921
HP:0031703	Abnormal ear morphology	257	ALX3	OMIM:136760
HP:0031703	Abnormal ear morphology	25970	SH2B1	ORPHA:261197
HP:0031703	Abnormal ear morphology	2317	FLNB	OMIM:150250
HP:0031703	Abnormal ear morphology	2317	FLNB	ORPHA:503
HP:0031703	Abnormal ear morphology	9533	POLR1C	OMIM:248390
HP:0031703	Abnormal ear morphology	9533	POLR1C	ORPHA:861
HP:0031703	Abnormal ear morphology	51053	GMNN	OMIM:616835
HP:0031703	Abnormal ear morphology	196528	ARID2	OMIM:617808
HP:0031703	Abnormal ear morphology	10456	HAX1	OMIM:610738
HP:0031703	Abnormal ear morphology	6309	SC5D	OMIM:607330
HP:0031703	Abnormal ear morphology	9949	AMMECR1	OMIM:300990
HP:0031703	Abnormal ear morphology	92840	REEP6	ORPHA:791
HP:0031703	Abnormal ear morphology	6094	ROM1	ORPHA:791
HP:0031703	Abnormal ear morphology	6017	RLBP1	ORPHA:791
HP:0031703	Abnormal ear morphology	7401	CLRN1	ORPHA:791
HP:0031703	Abnormal ear morphology	24	ABCA4	ORPHA:791
HP:0031703	Abnormal ear morphology	130557	ZNF513	ORPHA:791
HP:0031703	Abnormal ear morphology	582	BBS1	ORPHA:791
HP:0031703	Abnormal ear morphology	92211	CDHR1	ORPHA:791
HP:0031703	Abnormal ear morphology	23568	ARL2BP	ORPHA:791
HP:0031703	Abnormal ear morphology	6121	RPE65	ORPHA:791
HP:0031703	Abnormal ear morphology	54806	AHI1	ORPHA:791
HP:0031703	Abnormal ear morphology	6101	RP1	ORPHA:791
HP:0031703	Abnormal ear morphology	3419	IDH3A	ORPHA:791
HP:0031703	Abnormal ear morphology	4751	NEK2	ORPHA:791
HP:0031703	Abnormal ear morphology	346007	EYS	ORPHA:791
HP:0031703	Abnormal ear morphology	8100	IFT88	ORPHA:791
HP:0031703	Abnormal ear morphology	23020	SNRNP200	ORPHA:791
HP:0031703	Abnormal ear morphology	762	CA4	ORPHA:791
HP:0031703	Abnormal ear morphology	138050	HGSNAT	ORPHA:791
HP:0031703	Abnormal ear morphology	196	AHR	ORPHA:791
HP:0031703	Abnormal ear morphology	3614	IMPDH1	ORPHA:791
HP:0031703	Abnormal ear morphology	123016	TTC8	ORPHA:791
HP:0031703	Abnormal ear morphology	1406	CRX	ORPHA:791
HP:0031703	Abnormal ear morphology	5148	PDE6G	ORPHA:791
HP:0031703	Abnormal ear morphology	26160	IFT172	ORPHA:791
HP:0031703	Abnormal ear morphology	26121	PRPF31	ORPHA:791
HP:0031703	Abnormal ear morphology	583	BBS2	ORPHA:791
HP:0031703	Abnormal ear morphology	4117	MAK	ORPHA:791
HP:0031703	Abnormal ear morphology	25794	FSCN2	ORPHA:791
HP:0031703	Abnormal ear morphology	375298	CERKL	ORPHA:791
HP:0031703	Abnormal ear morphology	3420	IDH3B	ORPHA:791
HP:0031703	Abnormal ear morphology	57670	KIAA1549	ORPHA:791
HP:0031703	Abnormal ear morphology	7275	TUB	ORPHA:791
HP:0031703	Abnormal ear morphology	24148	PRPF6	ORPHA:791
HP:0031703	Abnormal ear morphology	23418	CRB1	ORPHA:791
HP:0031703	Abnormal ear morphology	10461	MERTK	ORPHA:791
HP:0031703	Abnormal ear morphology	57709	SLC7A14	ORPHA:791
HP:0031703	Abnormal ear morphology	768206	PRCD	ORPHA:791
HP:0031703	Abnormal ear morphology	7399	USH2A	ORPHA:791
HP:0031703	Abnormal ear morphology	23370	ARHGEF18	ORPHA:791
HP:0031703	Abnormal ear morphology	5949	RBP3	ORPHA:791
HP:0031703	Abnormal ear morphology	6010	RHO	ORPHA:791
HP:0031703	Abnormal ear morphology	6100	RP9	ORPHA:791
HP:0031703	Abnormal ear morphology	10002	NR2E3	ORPHA:791
HP:0031703	Abnormal ear morphology	9227	LRAT	ORPHA:791
HP:0031703	Abnormal ear morphology	84140	FAM161A	ORPHA:791
HP:0031703	Abnormal ear morphology	55812	SPATA7	ORPHA:791
HP:0031703	Abnormal ear morphology	55624	POMGNT1	ORPHA:791
HP:0031703	Abnormal ear morphology	79797	ZNF408	ORPHA:791
HP:0031703	Abnormal ear morphology	403	ARL3	ORPHA:791
HP:0031703	Abnormal ear morphology	5145	PDE6A	ORPHA:791
HP:0031703	Abnormal ear morphology	10210	TOPORS	ORPHA:791
HP:0031703	Abnormal ear morphology	10210	TOPORS	ORPHA:2754
HP:0031703	Abnormal ear morphology	8842	PROM1	ORPHA:791
HP:0031703	Abnormal ear morphology	9128	PRPF4	ORPHA:791
HP:0031703	Abnormal ear morphology	145226	RDH12	ORPHA:791
HP:0031703	Abnormal ear morphology	50939	IMPG2	ORPHA:791
HP:0031703	Abnormal ear morphology	49855	SCAPER	ORPHA:791
HP:0031703	Abnormal ear morphology	9742	IFT140	ORPHA:791
HP:0031703	Abnormal ear morphology	2979	GUCA1B	ORPHA:791
HP:0031703	Abnormal ear morphology	1259	CNGA1	ORPHA:791
HP:0031703	Abnormal ear morphology	1258	CNGB1	ORPHA:791
HP:0031703	Abnormal ear morphology	60509	AGBL5	ORPHA:791
HP:0031703	Abnormal ear morphology	5961	PRPH2	ORPHA:791
HP:0031703	Abnormal ear morphology	388939	PCARE	ORPHA:791
HP:0031703	Abnormal ear morphology	7439	BEST1	ORPHA:791
HP:0031703	Abnormal ear morphology	9785	DHX38	ORPHA:791
HP:0031703	Abnormal ear morphology	7287	TULP1	ORPHA:791
HP:0031703	Abnormal ear morphology	5995	RGR	ORPHA:791
HP:0031703	Abnormal ear morphology	9129	PRPF3	ORPHA:791
HP:0031703	Abnormal ear morphology	55975	KLHL7	ORPHA:791
HP:0031703	Abnormal ear morphology	3617	IMPG1	ORPHA:791
HP:0031703	Abnormal ear morphology	94137	RP1L1	ORPHA:791
HP:0031703	Abnormal ear morphology	5158	PDE6B	ORPHA:791
HP:0031703	Abnormal ear morphology	6102	RP2	ORPHA:791
HP:0031703	Abnormal ear morphology	55857	KIZ	ORPHA:791
HP:0031703	Abnormal ear morphology	64218	SEMA4A	ORPHA:791
HP:0031703	Abnormal ear morphology	4901	NRL	ORPHA:791
HP:0031703	Abnormal ear morphology	157657	CFAP418	ORPHA:791
HP:0031703	Abnormal ear morphology	10594	PRPF8	ORPHA:791
HP:0031703	Abnormal ear morphology	84100	ARL6	ORPHA:791
HP:0031703	Abnormal ear morphology	6295	SAG	ORPHA:791
HP:0031703	Abnormal ear morphology	79947	DHDDS	ORPHA:791
HP:0031703	Abnormal ear morphology	5396	PRRX1	OMIM:202650
HP:0031703	Abnormal ear morphology	9759	HDAC4	ORPHA:1001
HP:0031703	Abnormal ear morphology	27125	AFF4	ORPHA:444077
HP:0031703	Abnormal ear morphology	1387	CREBBP	ORPHA:353281
HP:0031703	Abnormal ear morphology	1387	CREBBP	ORPHA:353277
HP:0031703	Abnormal ear morphology	2623	GATA1	OMIM:190685
HP:0031703	Abnormal ear morphology	55215	FANCI	OMIM:609053
HP:0031703	Abnormal ear morphology	2033	EP300	ORPHA:353284
HP:0031703	Abnormal ear morphology	55033	FKBP14	OMIM:614557
HP:0031703	Abnormal ear morphology	5075	PAX1	ORPHA:2792
HP:0031703	Abnormal ear morphology	2077	ERF	ORPHA:207
HP:0031703	Abnormal ear morphology	1312	COMT	ORPHA:567
HP:0031703	Abnormal ear morphology	221037	JMJD1C	ORPHA:567
HP:0031703	Abnormal ear morphology	2812	GP1BB	ORPHA:567
HP:0031703	Abnormal ear morphology	6239	RREB1	ORPHA:567
HP:0031703	Abnormal ear morphology	7290	HIRA	ORPHA:567
HP:0031703	Abnormal ear morphology	9632	SEC24C	ORPHA:567
HP:0031703	Abnormal ear morphology	7353	UFD1	ORPHA:567
HP:0031703	Abnormal ear morphology	421	ARVCF	ORPHA:567
HP:0031703	Abnormal ear morphology	7703	PCGF2	OMIM:618371
HP:0031703	Abnormal ear morphology	4784	NFIX	ORPHA:561
HP:0031703	Abnormal ear morphology	774	CACNA1B	OMIM:618497
HP:0031703	Abnormal ear morphology	139285	AMER1	ORPHA:2780
HP:0031703	Abnormal ear morphology	139285	AMER1	OMIM:300373
HP:0031703	Abnormal ear morphology	9343	EFTUD2	OMIM:610536
HP:0031703	Abnormal ear morphology	9343	EFTUD2	ORPHA:79113
HP:0031703	Abnormal ear morphology	84172	POLR1B	OMIM:618939
HP:0031703	Abnormal ear morphology	84172	POLR1B	ORPHA:861
HP:0031703	Abnormal ear morphology	760	CA2	ORPHA:2785
HP:0031703	Abnormal ear morphology	23476	BRD4	ORPHA:199
HP:0031703	Abnormal ear morphology	9126	SMC3	ORPHA:199
HP:0031703	Abnormal ear morphology	8243	SMC1A	ORPHA:199
HP:0031703	Abnormal ear morphology	55869	HDAC8	ORPHA:199
HP:0031703	Abnormal ear morphology	5885	RAD21	ORPHA:199
HP:0031703	Abnormal ear morphology	4613	MYCN	ORPHA:391641
HP:0031703	Abnormal ear morphology	29957	SLC25A24	ORPHA:2095
HP:0031703	Abnormal ear morphology	29957	SLC25A24	OMIM:612289
HP:0031703	Abnormal ear morphology	65250	CPLANE1	OMIM:277170
HP:0031703	Abnormal ear morphology	65250	CPLANE1	ORPHA:2754
HP:0031703	Abnormal ear morphology	8092	ALX1	ORPHA:306542
HP:0031703	Abnormal ear morphology	5167	ENPP1	ORPHA:51608
HP:0031703	Abnormal ear morphology	368	ABCC6	ORPHA:51608
HP:0031703	Abnormal ear morphology	28962	OSTM1	ORPHA:85179
HP:0031703	Abnormal ear morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0031703	Abnormal ear morphology	246329	STAC3	ORPHA:168572
HP:0031703	Abnormal ear morphology	246329	STAC3	OMIM:255995
HP:0031703	Abnormal ear morphology	2131	EXT1	ORPHA:502
HP:0031703	Abnormal ear morphology	7227	TRPS1	ORPHA:502
HP:0031703	Abnormal ear morphology	5456	POU3F4	OMIM:304400
HP:0031703	Abnormal ear morphology	5456	POU3F4	ORPHA:1435
HP:0031703	Abnormal ear morphology	10804	GJB6	OMIM:304400
HP:0031703	Abnormal ear morphology	2706	GJB2	OMIM:304400
HP:0031703	Abnormal ear morphology	4000	LMNA	ORPHA:740
HP:0031703	Abnormal ear morphology	10269	ZMPSTE24	ORPHA:740
HP:0031703	Abnormal ear morphology	51082	POLR1D	ORPHA:861
HP:0031703	Abnormal ear morphology	51082	POLR1D	OMIM:613717
HP:0031703	Abnormal ear morphology	4041	LRP5	OMIM:607634
HP:0031703	Abnormal ear morphology	51715	RAB23	OMIM:201000
HP:0031703	Abnormal ear morphology	4222	MEOX1	OMIM:214300
HP:0031703	Abnormal ear morphology	26137	ZBTB20	ORPHA:3042
HP:0031703	Abnormal ear morphology	1984	EIF5A	OMIM:619376
HP:0031703	Abnormal ear morphology	650	BMP2	OMIM:617877
HP:0031703	Abnormal ear morphology	9487	PIGL	OMIM:280000
HP:0031703	Abnormal ear morphology	4621	MYH3	ORPHA:2990
HP:0031703	Abnormal ear morphology	4750	NEK1	ORPHA:2751
HP:0031703	Abnormal ear morphology	26123	TCTN3	ORPHA:2753
HP:0031703	Abnormal ear morphology	26123	TCTN3	ORPHA:2754
HP:0031703	Abnormal ear morphology	5286	PIK3C2A	ORPHA:557003
HP:0031703	Abnormal ear morphology	9851	KIAA0753	ORPHA:2754
HP:0031703	Abnormal ear morphology	5147	PDE6D	ORPHA:2754
HP:0031703	Abnormal ear morphology	51259	TMEM216	ORPHA:2754
HP:0031703	Abnormal ear morphology	317662	FAM149B1	ORPHA:2754
HP:0031703	Abnormal ear morphology	374654	KIF7	ORPHA:2754
HP:0031703	Abnormal ear morphology	90121	TSR2	OMIM:300946
HP:0031703	Abnormal ear morphology	4921	DDR2	OMIM:618175
HP:0031703	Abnormal ear morphology	166929	SGMS2	OMIM:126550
HP:0031703	Abnormal ear morphology	415	ARSL	ORPHA:79345
HP:0031703	Abnormal ear morphology	55755	CDK5RAP2	OMIM:604804
HP:0031703	Abnormal ear morphology	84173	ELMOD3	OMIM:615429
HP:0031703	Abnormal ear morphology	55294	FBXW7	OMIM:620012
HP:0031703	Abnormal ear morphology	9820	CUL7	ORPHA:2616
HP:0031703	Abnormal ear morphology	23363	OBSL1	ORPHA:2616
HP:0031703	Abnormal ear morphology	23363	OBSL1	OMIM:612921
HP:0031703	Abnormal ear morphology	83987	CCDC8	ORPHA:2616
HP:0031703	Abnormal ear morphology	83987	CCDC8	OMIM:614205
HP:0031703	Abnormal ear morphology	283120	H19	ORPHA:231140
HP:0031703	Abnormal ear morphology	4038	LRP4	ORPHA:3258
HP:0031703	Abnormal ear morphology	324	APC	ORPHA:3258
HP:0031703	Abnormal ear morphology	6197	RPS6KA3	OMIM:303600
HP:0031703	Abnormal ear morphology	6197	RPS6KA3	ORPHA:192
HP:0031703	Abnormal ear morphology	3340	NDST1	OMIM:616116
HP:0031703	Abnormal ear morphology	649	BMP1	OMIM:614856
HP:0031703	Abnormal ear morphology	7809	BSND	ORPHA:89938
HP:0031703	Abnormal ear morphology	1188	CLCNKB	ORPHA:89938
HP:0031703	Abnormal ear morphology	1187	CLCNKA	ORPHA:89938
HP:0031703	Abnormal ear morphology	55621	TRMT1	OMIM:618302
HP:0031703	Abnormal ear morphology	80067	DCAF17	ORPHA:3464
HP:0031703	Abnormal ear morphology	80067	DCAF17	OMIM:241080
HP:0031703	Abnormal ear morphology	163175	LGI4	OMIM:617468
HP:0031703	Abnormal ear morphology	200424	TET3	OMIM:618798
HP:0031703	Abnormal ear morphology	833	CARS1	ORPHA:33364
HP:0031703	Abnormal ear morphology	7737	RNF113A	ORPHA:33364
HP:0031703	Abnormal ear morphology	6897	TARS1	ORPHA:33364
HP:0031703	Abnormal ear morphology	2071	ERCC3	ORPHA:33364
HP:0031703	Abnormal ear morphology	2961	GTF2E2	ORPHA:33364
HP:0031703	Abnormal ear morphology	274	BIN1	ORPHA:169186
HP:0031703	Abnormal ear morphology	10290	SPEG	ORPHA:169186
HP:0031703	Abnormal ear morphology	7273	TTN	ORPHA:169186
HP:0031703	Abnormal ear morphology	1291	COL6A1	OMIM:254090
HP:0031703	Abnormal ear morphology	1292	COL6A2	OMIM:254090
HP:0031703	Abnormal ear morphology	1293	COL6A3	OMIM:254090
HP:0031703	Abnormal ear morphology	16	AARS1	OMIM:619691
HP:0031703	Abnormal ear morphology	79576	NKAP	OMIM:301039
HP:0031703	Abnormal ear morphology	51305	KCNK9	ORPHA:166108
HP:0031703	Abnormal ear morphology	2707	GJB3	ORPHA:317
HP:0031703	Abnormal ear morphology	2531	KDSR	ORPHA:317
HP:0031703	Abnormal ear morphology	127534	GJB4	ORPHA:317
HP:0031703	Abnormal ear morphology	1213	CLTC	OMIM:617854
HP:0031703	Abnormal ear morphology	5293	PIK3CD	ORPHA:221139
HP:0031703	Abnormal ear morphology	90417	KNSTRN	ORPHA:221139
HP:0031703	Abnormal ear morphology	90416	CCDC32	OMIM:619123
HP:0031703	Abnormal ear morphology	3832	KIF11	ORPHA:2526
HP:0031703	Abnormal ear morphology	3832	KIF11	OMIM:152950
HP:0031703	Abnormal ear morphology	23529	CLCF1	OMIM:610313
HP:0031703	Abnormal ear morphology	1804	DPP6	ORPHA:2514
HP:0031703	Abnormal ear morphology	4001	LMNB1	ORPHA:2514
HP:0031703	Abnormal ear morphology	85378	TUBGCP6	ORPHA:2518
HP:0031703	Abnormal ear morphology	27229	TUBGCP4	ORPHA:2518
HP:0031703	Abnormal ear morphology	57647	DHX37	OMIM:618731
HP:0031703	Abnormal ear morphology	57728	WDR19	OMIM:614378
HP:0031703	Abnormal ear morphology	10844	TUBGCP2	OMIM:618737
HP:0031703	Abnormal ear morphology	2065	ERBB3	OMIM:243180
HP:0031703	Abnormal ear morphology	79796	ALG9	ORPHA:79328
HP:0031703	Abnormal ear morphology	79796	ALG9	OMIM:263210
HP:0031703	Abnormal ear morphology	79718	TBL1XR1	OMIM:602342
HP:0031703	Abnormal ear morphology	23556	PIGN	OMIM:614080
HP:0031703	Abnormal ear morphology	23556	PIGN	ORPHA:280633
HP:0031703	Abnormal ear morphology	4677	NARS1	OMIM:619092
HP:0031703	Abnormal ear morphology	30000	TNPO2	OMIM:619556
HP:0031703	Abnormal ear morphology	83696	TRAPPC9	ORPHA:352530
HP:0031703	Abnormal ear morphology	202018	TAPT1	OMIM:616897
HP:0031703	Abnormal ear morphology	10584	COLEC10	ORPHA:293843
HP:0031703	Abnormal ear morphology	5648	MASP1	ORPHA:293843
HP:0031703	Abnormal ear morphology	78989	COLEC11	ORPHA:293843
HP:0031703	Abnormal ear morphology	526	ATP6V1B2	ORPHA:3473
HP:0031703	Abnormal ear morphology	3756	KCNH1	ORPHA:3473
HP:0031703	Abnormal ear morphology	3782	KCNN3	ORPHA:3473
HP:0031703	Abnormal ear morphology	4854	NOTCH3	OMIM:130720
HP:0031703	Abnormal ear morphology	4854	NOTCH3	ORPHA:2789
HP:0031703	Abnormal ear morphology	2138	EYA1	ORPHA:107
HP:0031703	Abnormal ear morphology	147912	SIX5	ORPHA:107
HP:0031703	Abnormal ear morphology	6495	SIX1	ORPHA:107
HP:0031703	Abnormal ear morphology	6299	SALL1	OMIM:107480
HP:0031703	Abnormal ear morphology	2263	FGFR2	ORPHA:313855
HP:0031703	Abnormal ear morphology	29998	BICRA	OMIM:619325
HP:0031703	Abnormal ear morphology	9131	AIFM1	OMIM:300614
HP:0031703	Abnormal ear morphology	1690	COCH	OMIM:601369
HP:0031703	Abnormal ear morphology	9894	TELO2	ORPHA:488642
HP:0031703	Abnormal ear morphology	1028	CDKN1C	OMIM:130650
HP:0031703	Abnormal ear morphology	10984	KCNQ1OT1	OMIM:130650
HP:0031703	Abnormal ear morphology	3481	IGF2	OMIM:130650
HP:0031703	Abnormal ear morphology	3784	KCNQ1	OMIM:130650
HP:0031703	Abnormal ear morphology	1371	CPOX	ORPHA:79273
HP:0031703	Abnormal ear morphology	9692	PRORP	OMIM:619737
HP:0031703	Abnormal ear morphology	81624	DIAPH3	OMIM:609129
HP:0031703	Abnormal ear morphology	9381	OTOF	OMIM:601071
HP:0031703	Abnormal ear morphology	9526	MPDU1	ORPHA:79323
HP:0031703	Abnormal ear morphology	5290	PIK3CA	ORPHA:276280
HP:0031703	Abnormal ear morphology	23394	ADNP	ORPHA:404448
HP:0031703	Abnormal ear morphology	5339	PLEC	ORPHA:158684
HP:0031703	Abnormal ear morphology	5339	PLEC	OMIM:612138
HP:0031703	Abnormal ear morphology	3691	ITGB4	ORPHA:158684
HP:0031703	Abnormal ear morphology	2629	GBA1	OMIM:608013
HP:0031703	Abnormal ear morphology	51506	UFC1	OMIM:618076
HP:0031703	Abnormal ear morphology	55788	LMBRD1	OMIM:277380
HP:0031703	Abnormal ear morphology	57589	RIC1	OMIM:618761
HP:0031703	Abnormal ear morphology	9739	SETD1A	OMIM:619056
HP:0031703	Abnormal ear morphology	80204	FBXO11	OMIM:618089
HP:0031703	Abnormal ear morphology	815	CAMK2A	OMIM:617798
HP:0031703	Abnormal ear morphology	54872	PIGG	ORPHA:280
HP:0031703	Abnormal ear morphology	7469	NELFA	ORPHA:280
HP:0031703	Abnormal ear morphology	4174	MCM5	OMIM:617564
HP:0031703	Abnormal ear morphology	51199	NIN	OMIM:614851
HP:0031703	Abnormal ear morphology	51199	NIN	ORPHA:319675
HP:0031703	Abnormal ear morphology	175	AGA	ORPHA:93
HP:0031703	Abnormal ear morphology	26038	CHD5	OMIM:619873
HP:0031703	Abnormal ear morphology	55719	SLF2	OMIM:620184
HP:0031703	Abnormal ear morphology	4089	SMAD4	OMIM:139210
HP:0031703	Abnormal ear morphology	81887	LAS1L	ORPHA:3459
HP:0031703	Abnormal ear morphology	5422	POLA1	ORPHA:163976
HP:0031703	Abnormal ear morphology	5422	POLA1	OMIM:301030
HP:0031703	Abnormal ear morphology	4123	MAN2C1	OMIM:619775
HP:0031703	Abnormal ear morphology	9652	SKIC3	OMIM:222470
HP:0031703	Abnormal ear morphology	546	ATRX	OMIM:309580
HP:0031703	Abnormal ear morphology	546	ATRX	OMIM:301040
HP:0031703	Abnormal ear morphology	729920	CRPPA	OMIM:614643
HP:0031703	Abnormal ear morphology	4488	MSX2	OMIM:168550
HP:0031703	Abnormal ear morphology	6138	RPL15	ORPHA:124
HP:0031703	Abnormal ear morphology	6229	RPS24	ORPHA:124
HP:0031703	Abnormal ear morphology	6125	RPL5	ORPHA:124
HP:0031703	Abnormal ear morphology	6204	RPS10	ORPHA:124
HP:0031703	Abnormal ear morphology	6224	RPS20	ORPHA:124
HP:0031703	Abnormal ear morphology	6165	RPL35A	ORPHA:124
HP:0031703	Abnormal ear morphology	6223	RPS19	ORPHA:124
HP:0031703	Abnormal ear morphology	6232	RPS27	ORPHA:124
HP:0031703	Abnormal ear morphology	11224	RPL35	ORPHA:124
HP:0031703	Abnormal ear morphology	6160	RPL31	ORPHA:124
HP:0031703	Abnormal ear morphology	6218	RPS17	ORPHA:124
HP:0031703	Abnormal ear morphology	6201	RPS7	ORPHA:124
HP:0031703	Abnormal ear morphology	6155	RPL27	ORPHA:124
HP:0031703	Abnormal ear morphology	6210	RPS15A	ORPHA:124
HP:0031703	Abnormal ear morphology	6141	RPL18	ORPHA:124
HP:0031703	Abnormal ear morphology	6235	RPS29	ORPHA:124
HP:0031703	Abnormal ear morphology	54101	RIPK4	OMIM:263650
HP:0031703	Abnormal ear morphology	51025	PAM16	OMIM:613320
HP:0031703	Abnormal ear morphology	27152	INTU	OMIM:617925
HP:0031703	Abnormal ear morphology	5426	POLE	OMIM:618336
HP:0031703	Abnormal ear morphology	2737	GLI3	ORPHA:672
HP:0031703	Abnormal ear morphology	2737	GLI3	OMIM:146510
HP:0031703	Abnormal ear morphology	10735	STAG2	OMIM:301043
HP:0031703	Abnormal ear morphology	10735	STAG2	OMIM:301022
HP:0031703	Abnormal ear morphology	6477	SIAH1	OMIM:619314
HP:0031703	Abnormal ear morphology	89970	RSPRY1	OMIM:616723
HP:0031703	Abnormal ear morphology	7473	WNT3	ORPHA:3301
HP:0031703	Abnormal ear morphology	340419	RSPO2	ORPHA:3301
HP:0031703	Abnormal ear morphology	3313	HSPA9	OMIM:616854
HP:0031703	Abnormal ear morphology	3097	HIVEP2	OMIM:616977
HP:0031703	Abnormal ear morphology	29954	POMT2	OMIM:236670
HP:0031703	Abnormal ear morphology	9215	LARGE1	OMIM:236670
HP:0031703	Abnormal ear morphology	79147	FKRP	OMIM:236670
HP:0031703	Abnormal ear morphology	10585	POMT1	OMIM:236670
HP:0031703	Abnormal ear morphology	2218	FKTN	OMIM:236670
HP:0031703	Abnormal ear morphology	4131	MAP1B	OMIM:618918
HP:0031703	Abnormal ear morphology	90161	HS6ST2	OMIM:301025
HP:0031703	Abnormal ear morphology	55777	MBD5	OMIM:156200
HP:0031703	Abnormal ear morphology	3209	HOXA13	ORPHA:2438
HP:0031703	Abnormal ear morphology	2248	FGF3	ORPHA:90024
HP:0031703	Abnormal ear morphology	8405	SPOP	OMIM:618829
HP:0031703	Abnormal ear morphology	5058	PAK1	OMIM:618158
HP:0031703	Abnormal ear morphology	3655	ITGA6	OMIM:619817
HP:0031703	Abnormal ear morphology	5557	PRIM1	OMIM:620005
HP:0031703	Abnormal ear morphology	7388	UQCRH	OMIM:620137
HP:0031703	Abnormal ear morphology	25886	POC1A	OMIM:614813
HP:0031703	Abnormal ear morphology	1491	CTH	ORPHA:212
HP:0031703	Abnormal ear morphology	286	ANK1	ORPHA:251066
HP:0031703	Abnormal ear morphology	672	BRCA1	ORPHA:84
HP:0031703	Abnormal ear morphology	10459	MAD2L2	ORPHA:84
HP:0031703	Abnormal ear morphology	7516	XRCC2	ORPHA:84
HP:0031703	Abnormal ear morphology	29089	UBE2T	ORPHA:84
HP:0031703	Abnormal ear morphology	675	BRCA2	ORPHA:84
HP:0031703	Abnormal ear morphology	55120	FANCL	ORPHA:84
HP:0031703	Abnormal ear morphology	2177	FANCD2	ORPHA:84
HP:0031703	Abnormal ear morphology	2175	FANCA	ORPHA:84
HP:0031703	Abnormal ear morphology	2187	FANCB	ORPHA:84
HP:0031703	Abnormal ear morphology	2176	FANCC	ORPHA:84
HP:0031703	Abnormal ear morphology	2178	FANCE	ORPHA:84
HP:0031703	Abnormal ear morphology	2189	FANCG	ORPHA:84
HP:0031703	Abnormal ear morphology	5888	RAD51	ORPHA:84
HP:0031703	Abnormal ear morphology	5889	RAD51C	ORPHA:84
HP:0031703	Abnormal ear morphology	55159	RFWD3	ORPHA:84
HP:0031703	Abnormal ear morphology	83990	BRIP1	ORPHA:84
HP:0031703	Abnormal ear morphology	57697	FANCM	ORPHA:84
HP:0031703	Abnormal ear morphology	79728	PALB2	ORPHA:84
HP:0031703	Abnormal ear morphology	84464	SLX4	ORPHA:84
HP:0031703	Abnormal ear morphology	157570	ESCO2	ORPHA:3103
HP:0031703	Abnormal ear morphology	2626	GATA4	ORPHA:251071
HP:0031703	Abnormal ear morphology	5813	PURA	ORPHA:438216
HP:0031703	Abnormal ear morphology	6905	TBCE	ORPHA:2323
HP:0031703	Abnormal ear morphology	203068	TUBB	ORPHA:2505
HP:0031703	Abnormal ear morphology	10982	MAPRE2	ORPHA:2505
HP:0031703	Abnormal ear morphology	2245	FGD1	ORPHA:915
HP:0031703	Abnormal ear morphology	51339	DACT1	ORPHA:857
HP:0031703	Abnormal ear morphology	55670	PEX26	ORPHA:912
HP:0031703	Abnormal ear morphology	5824	PEX19	ORPHA:912
HP:0031703	Abnormal ear morphology	5828	PEX2	ORPHA:912
HP:0031703	Abnormal ear morphology	8504	PEX3	ORPHA:912
HP:0031703	Abnormal ear morphology	8799	PEX11B	ORPHA:912
HP:0031703	Abnormal ear morphology	9409	PEX16	ORPHA:912
HP:0031703	Abnormal ear morphology	5190	PEX6	ORPHA:912
HP:0031703	Abnormal ear morphology	5830	PEX5	ORPHA:912
HP:0031703	Abnormal ear morphology	5189	PEX1	ORPHA:912
HP:0031703	Abnormal ear morphology	5193	PEX12	ORPHA:912
HP:0031703	Abnormal ear morphology	5194	PEX13	ORPHA:912
HP:0031703	Abnormal ear morphology	5195	PEX14	ORPHA:912
HP:0031703	Abnormal ear morphology	5192	PEX10	ORPHA:912
HP:0031703	Abnormal ear morphology	55636	CHD7	ORPHA:138
HP:0031703	Abnormal ear morphology	9723	SEMA3E	ORPHA:138
HP:0031703	Abnormal ear morphology	56262	LRRC8A	ORPHA:33110
HP:0031703	Abnormal ear morphology	2335	FN1	ORPHA:93315
HP:0031703	Abnormal ear morphology	79005	SCNM1	OMIM:620107
HP:0031703	Abnormal ear morphology	9772	TMEM94	OMIM:618316
HP:0031703	Abnormal ear morphology	6535	SLC6A8	OMIM:300352
HP:0031703	Abnormal ear morphology	1663	DDX11	OMIM:613398
HP:0031703	Abnormal ear morphology	3766	KCNJ10	ORPHA:705
HP:0031703	Abnormal ear morphology	2299	FOXI1	ORPHA:705
HP:0031703	Abnormal ear morphology	5172	SLC26A4	ORPHA:705
HP:0031703	Abnormal ear morphology	10157	AASS	ORPHA:2203
HP:0031703	Abnormal ear morphology	27161	AGO2	OMIM:619149
HP:0031703	Abnormal ear morphology	5053	PAH	ORPHA:2209
HP:0031703	Abnormal ear morphology	5087	PBX1	OMIM:617641
HP:0031703	Abnormal ear morphology	10026	PIGK	OMIM:618879
HP:0031703	Abnormal ear morphology	283209	PGM2L1	OMIM:620191
HP:0031703	Abnormal ear morphology	9469	CHST3	OMIM:245600
HP:0031703	Abnormal ear morphology	26229	B3GAT3	OMIM:245600
HP:0031703	Abnormal ear morphology	1513	CTSK	ORPHA:763
HP:0031703	Abnormal ear morphology	3735	KARS1	OMIM:613641
HP:0031703	Abnormal ear morphology	161742	SPRED1	ORPHA:137605
HP:0031703	Abnormal ear morphology	3265	HRAS	OMIM:218040
HP:0031703	Abnormal ear morphology	4771	NF2	OMIM:162091
HP:0031703	Abnormal ear morphology	6598	SMARCB1	OMIM:162091
HP:0031703	Abnormal ear morphology	3981	LIG4	ORPHA:235
HP:0031703	Abnormal ear morphology	54888	NSUN2	ORPHA:235
HP:0031703	Abnormal ear morphology	2290	FOXG1	ORPHA:261144
HP:0031703	Abnormal ear morphology	23522	KAT6B	ORPHA:3047
HP:0031703	Abnormal ear morphology	9320	TRIP12	OMIM:617752
HP:0031703	Abnormal ear morphology	55275	VPS53	OMIM:615851
HP:0031703	Abnormal ear morphology	7358	UGDH	OMIM:618792
HP:0031703	Abnormal ear morphology	1806	DPYD	ORPHA:1675
HP:0031703	Abnormal ear morphology	7080	NKX2-1	OMIM:610978
HP:0031703	Abnormal ear morphology	81620	CDT1	ORPHA:2554
HP:0031703	Abnormal ear morphology	5000	ORC4	ORPHA:2554
HP:0031703	Abnormal ear morphology	23594	ORC6	ORPHA:2554
HP:0031703	Abnormal ear morphology	8318	CDC45	ORPHA:2554
HP:0031703	Abnormal ear morphology	990	CDC6	ORPHA:2554
HP:0031703	Abnormal ear morphology	4998	ORC1	ORPHA:2554
HP:0031703	Abnormal ear morphology	7840	ALMS1	ORPHA:64
HP:0031703	Abnormal ear morphology	3767	KCNJ11	ORPHA:79134
HP:0031703	Abnormal ear morphology	79731	NARS2	ORPHA:79134
HP:0031703	Abnormal ear morphology	6833	ABCC8	ORPHA:79134
HP:0031703	Abnormal ear morphology	84992	PIGY	OMIM:616809
HP:0031703	Abnormal ear morphology	10908	PNPLA6	ORPHA:2377
HP:0031703	Abnormal ear morphology	58499	ZNF462	OMIM:618619
HP:0031703	Abnormal ear morphology	9653	HS2ST1	OMIM:619194
HP:0031703	Abnormal ear morphology	9361	LONP1	OMIM:600373
HP:0031703	Abnormal ear morphology	9361	LONP1	ORPHA:1458
HP:0031703	Abnormal ear morphology	2201	FBN2	OMIM:121050
HP:0031703	Abnormal ear morphology	2201	FBN2	ORPHA:115
HP:0031703	Abnormal ear morphology	23184	MESD	OMIM:618644
HP:0031703	Abnormal ear morphology	7291	TWIST1	OMIM:617746
HP:0031703	Abnormal ear morphology	2200	FBN1	ORPHA:284979
HP:0031703	Abnormal ear morphology	1906	EDN1	ORPHA:137888
HP:0031703	Abnormal ear morphology	5332	PLCB4	ORPHA:137888
HP:0031703	Abnormal ear morphology	2773	GNAI3	ORPHA:137888
HP:0031703	Abnormal ear morphology	2334	AFF2	ORPHA:100973
HP:0031703	Abnormal ear morphology	91452	ACBD5	OMIM:618863
HP:0031703	Abnormal ear morphology	157680	VPS13B	ORPHA:193
HP:0031703	Abnormal ear morphology	11141	IL1RAPL1	OMIM:300143
HP:0031703	Abnormal ear morphology	58508	KMT2C	ORPHA:261652
HP:0031703	Abnormal ear morphology	6602	SMARCD1	OMIM:618779
HP:0031703	Abnormal ear morphology	9091	PIGQ	OMIM:618548
HP:0031703	Abnormal ear morphology	22827	PUF60	ORPHA:508488
HP:0031703	Abnormal ear morphology	2571	GAD1	OMIM:619124
HP:0031703	Abnormal ear morphology	55870	ASH1L	OMIM:617796
HP:0031703	Abnormal ear morphology	7025	NR2F1	ORPHA:401777
HP:0031703	Abnormal ear morphology	2239	GPC4	ORPHA:373
HP:0031703	Abnormal ear morphology	2719	GPC3	ORPHA:373
HP:0031703	Abnormal ear morphology	1832	DSP	ORPHA:158687
HP:0031703	Abnormal ear morphology	3728	JUP	ORPHA:158687
HP:0031703	Abnormal ear morphology	6925	TCF4	ORPHA:2896
HP:0031703	Abnormal ear morphology	23384	SPECC1L	ORPHA:1519
HP:0031703	Abnormal ear morphology	26040	SETBP1	ORPHA:798
HP:0031703	Abnormal ear morphology	151516	ASPRV1	ORPHA:313
HP:0031703	Abnormal ear morphology	242	ALOX12B	ORPHA:313
HP:0031703	Abnormal ear morphology	126410	CYP4F22	ORPHA:313
HP:0031703	Abnormal ear morphology	6820	SULT2B1	ORPHA:313
HP:0031703	Abnormal ear morphology	26154	ABCA12	ORPHA:313
HP:0031703	Abnormal ear morphology	643418	LIPN	ORPHA:313
HP:0031703	Abnormal ear morphology	59344	ALOXE3	ORPHA:313
HP:0031703	Abnormal ear morphology	348938	NIPAL4	ORPHA:313
HP:0031703	Abnormal ear morphology	121214	SDR9C7	ORPHA:313
HP:0031703	Abnormal ear morphology	7051	TGM1	ORPHA:313
HP:0031703	Abnormal ear morphology	23511	NUP188	OMIM:618804
HP:0031703	Abnormal ear morphology	1288	COL4A6	OMIM:300914
HP:0031703	Abnormal ear morphology	6663	SOX10	OMIM:611584
HP:0031703	Abnormal ear morphology	80000	GREB1L	OMIM:619274
HP:0031703	Abnormal ear morphology	54845	ESRP1	OMIM:618013
HP:0031703	Abnormal ear morphology	5015	OTX2	ORPHA:990
HP:0031703	Abnormal ear morphology	4363	ABCC1	OMIM:618915
HP:0031703	Abnormal ear morphology	259236	TMIE	OMIM:600971
HP:0031703	Abnormal ear morphology	1278	COL1A2	ORPHA:230851
HP:0031703	Abnormal ear morphology	326	AIRE	OMIM:240300
HP:0031703	Abnormal ear morphology	285590	SH3PXD2B	OMIM:249420
HP:0031703	Abnormal ear morphology	2702	GJA5	OMIM:612474
HP:0031703	Abnormal ear morphology	2703	GJA8	OMIM:612474
HP:0031703	Abnormal ear morphology	7528	YY1	OMIM:617557
HP:0031703	Abnormal ear morphology	54187	NANS	OMIM:610442
HP:0031703	Abnormal ear morphology	57539	WDR35	OMIM:613610
HP:0031703	Abnormal ear morphology	8449	DHX16	OMIM:618733
HP:0031703	Abnormal ear morphology	55770	EXOC2	OMIM:619306
HP:0031703	Abnormal ear morphology	6650	CAPN15	OMIM:619318
HP:0031703	Abnormal ear morphology	84081	NSRP1	OMIM:620001
HP:0031703	Abnormal ear morphology	595	CCND1	ORPHA:892
HP:0031703	Abnormal ear morphology	6492	SIM1	ORPHA:171829
HP:0031703	Abnormal ear morphology	2103	ESRRB	OMIM:608565
HP:0031703	Abnormal ear morphology	5283	PIGH	OMIM:618010
HP:0031703	Abnormal ear morphology	84196	USP48	OMIM:620227
HP:0031703	Abnormal ear morphology	3149	HMGB3	OMIM:300915
HP:0031703	Abnormal ear morphology	8913	CACNA1G	OMIM:618087
HP:0031703	Abnormal ear morphology	2070	EYA4	ORPHA:217622
HP:0031703	Abnormal ear morphology	6567	SLC16A2	OMIM:300523
HP:0031703	Abnormal ear morphology	9702	CEP57	OMIM:614114
HP:0031703	Abnormal ear morphology	7140	TNNT3	ORPHA:1147
HP:0031703	Abnormal ear morphology	7169	TPM2	ORPHA:1147
HP:0031703	Abnormal ear morphology	7136	TNNI2	ORPHA:1147
HP:0031703	Abnormal ear morphology	5702	PSMC3	OMIM:619354
HP:0031703	Abnormal ear morphology	7317	UBA1	OMIM:301054
HP:0031703	Abnormal ear morphology	51780	KDM3B	OMIM:618846
HP:0031703	Abnormal ear morphology	3703	STT3A	OMIM:619714
HP:0031703	Abnormal ear morphology	5457	POU4F1	ORPHA:314647
HP:0031703	Abnormal ear morphology	57591	MRTFA	OMIM:618847
HP:0031703	Abnormal ear morphology	6868	ADAM17	OMIM:614328
HP:0031703	Abnormal ear morphology	6868	ADAM17	ORPHA:294023
HP:0031703	Abnormal ear morphology	1956	EGFR	ORPHA:294023
HP:0031704	Abnormal ear physiology	2911	GRM1	OMIM:617691
HP:0031704	Abnormal ear physiology	8314	BAP1	ORPHA:2495
HP:0031704	Abnormal ear physiology	5155	PDGFB	ORPHA:2495
HP:0031704	Abnormal ear physiology	6608	SMO	ORPHA:2495
HP:0031704	Abnormal ear physiology	51684	SUFU	ORPHA:2495
HP:0031704	Abnormal ear physiology	117531	TMC1	OMIM:606705
HP:0031704	Abnormal ear physiology	56616	DIABLO	OMIM:614152
HP:0031704	Abnormal ear physiology	491	ATP2B2	OMIM:619804
HP:0031704	Abnormal ear physiology	4363	ABCC1	OMIM:618915
HP:0031704	Abnormal ear physiology	23516	SLC39A14	OMIM:144755
HP:0031704	Abnormal ear physiology	1690	COCH	OMIM:601369
HP:0031704	Abnormal ear physiology	9885	OSBPL2	OMIM:616340
HP:0031704	Abnormal ear physiology	407053	MIR96	OMIM:613074
HP:0031704	Abnormal ear physiology	125336	LOXHD1	OMIM:613079
HP:0031704	Abnormal ear physiology	22943	DKK1	ORPHA:268882
HP:0031704	Abnormal ear physiology	4352	MPL	ORPHA:729
HP:0031704	Abnormal ear physiology	3717	JAK2	ORPHA:729
HP:0031704	Abnormal ear physiology	54790	TET2	ORPHA:729
HP:0031704	Abnormal ear physiology	1181	CLCN2	ORPHA:404
HP:0031704	Abnormal ear physiology	1584	CYP11B1	ORPHA:403
HP:0031704	Abnormal ear physiology	1585	CYP11B2	ORPHA:403
HP:0031704	Abnormal ear physiology	857	CAV1	OMIM:606721
HP:0031704	Abnormal ear physiology	80736	SLC44A4	OMIM:617606
HP:0031704	Abnormal ear physiology	595	CCND1	OMIM:193300
HP:0031704	Abnormal ear physiology	7428	VHL	OMIM:193300
HP:0031704	Abnormal ear physiology	1834	DSPP	OMIM:605594
HP:0031704	Abnormal ear physiology	152137	CCDC50	OMIM:607453
HP:0031704	Abnormal ear physiology	22953	P2RX2	OMIM:608224
HP:0031704	Abnormal ear physiology	1188	CLCNKB	ORPHA:358
HP:0031704	Abnormal ear physiology	6559	SLC12A3	ORPHA:358
HP:0031704	Abnormal ear physiology	5080	PAX6	ORPHA:893
HP:0031704	Abnormal ear physiology	5080	PAX6	ORPHA:1065
HP:0031704	Abnormal ear physiology	627	BDNF	ORPHA:893
HP:0031704	Abnormal ear physiology	7490	WT1	ORPHA:893
HP:0031704	Abnormal ear physiology	4014	LORICRIN	OMIM:604117
HP:0031704	Abnormal ear physiology	1185	CLCN6	OMIM:619173
HP:0031704	Abnormal ear physiology	54084	TSPEAR	OMIM:618180
HP:0031704	Abnormal ear physiology	9241	NOG	OMIM:186570
HP:0031704	Abnormal ear physiology	10491	CRTAP	OMIM:610682
HP:0031704	Abnormal ear physiology	79574	EPS8L3	OMIM:612841
HP:0031704	Abnormal ear physiology	3708	ITPR1	ORPHA:1065
HP:0031704	Abnormal ear physiology	4683	NBN	ORPHA:647
HP:0031704	Abnormal ear physiology	4221	MEN1	ORPHA:97279
HP:0031704	Abnormal ear physiology	7528	YY1	ORPHA:97279
HP:0031704	Abnormal ear physiology	6678	SPARC	OMIM:616507
HP:0031704	Abnormal ear physiology	2776	GNAQ	ORPHA:3205
HP:0031704	Abnormal ear physiology	3081	HGD	ORPHA:56
HP:0031704	Abnormal ear physiology	8517	IKBKG	ORPHA:464
HP:0031704	Abnormal ear physiology	5981	RFC1	OMIM:614575
HP:0031704	Abnormal ear physiology	1301	COL11A1	ORPHA:2021
HP:0031704	Abnormal ear physiology	1302	COL11A2	ORPHA:2021
HP:0031704	Abnormal ear physiology	11128	POLR3A	ORPHA:3455
HP:0031704	Abnormal ear physiology	121340	SP7	OMIM:613849
HP:0031704	Abnormal ear physiology	26191	PTPN22	ORPHA:397
HP:0031704	Abnormal ear physiology	3106	HLA-B	ORPHA:397
HP:0031704	Abnormal ear physiology	3123	HLA-DRB1	ORPHA:397
HP:0031704	Abnormal ear physiology	8974	P4HA2	ORPHA:397
HP:0031704	Abnormal ear physiology	65217	PCDH15	OMIM:601067
HP:0031704	Abnormal ear physiology	64072	CDH23	OMIM:601067
HP:0031704	Abnormal ear physiology	51569	UFM1	OMIM:617899
HP:0031704	Abnormal ear physiology	2263	FGFR2	OMIM:149730
HP:0031704	Abnormal ear physiology	2263	FGFR2	ORPHA:794
HP:0031704	Abnormal ear physiology	2263	FGFR2	ORPHA:93260
HP:0031704	Abnormal ear physiology	2263	FGFR2	ORPHA:93258
HP:0031704	Abnormal ear physiology	2263	FGFR2	OMIM:101400
HP:0031704	Abnormal ear physiology	2263	FGFR2	OMIM:101200
HP:0031704	Abnormal ear physiology	2263	FGFR2	ORPHA:207
HP:0031704	Abnormal ear physiology	79188	TMEM43	OMIM:619832
HP:0031704	Abnormal ear physiology	4897	NRCAM	OMIM:619833
HP:0031704	Abnormal ear physiology	7068	THRB	OMIM:274300
HP:0031704	Abnormal ear physiology	5631	PRPS1	ORPHA:99014
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:301835
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:311070
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:300661
HP:0031704	Abnormal ear physiology	6662	SOX9	ORPHA:140
HP:0031704	Abnormal ear physiology	6662	SOX9	OMIM:114290
HP:0031704	Abnormal ear physiology	1855	DVL1	OMIM:616331
HP:0031704	Abnormal ear physiology	1855	DVL1	ORPHA:3107
HP:0031704	Abnormal ear physiology	64412	GZF1	OMIM:617662
HP:0031704	Abnormal ear physiology	10528	NOP56	OMIM:614153
HP:0031704	Abnormal ear physiology	10528	NOP56	ORPHA:276198
HP:0031704	Abnormal ear physiology	56997	COQ8A	ORPHA:139485
HP:0031704	Abnormal ear physiology	27245	AHDC1	ORPHA:412069
HP:0031704	Abnormal ear physiology	6595	SMARCA2	ORPHA:2728
HP:0031704	Abnormal ear physiology	51112	TRAPPC12	OMIM:617669
HP:0031704	Abnormal ear physiology	55636	CHD7	ORPHA:138
HP:0031704	Abnormal ear physiology	9723	SEMA3E	ORPHA:138
HP:0031704	Abnormal ear physiology	55650	PIGV	OMIM:239300
HP:0031704	Abnormal ear physiology	55154	MSTO1	OMIM:617675
HP:0031704	Abnormal ear physiology	55154	MSTO1	ORPHA:502423
HP:0031704	Abnormal ear physiology	50484	RRM2B	OMIM:613077
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:254892
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:329336
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:480
HP:0031704	Abnormal ear physiology	50484	RRM2B	OMIM:268315
HP:0031704	Abnormal ear physiology	113189	CHST14	ORPHA:2953
HP:0031704	Abnormal ear physiology	113189	CHST14	OMIM:601776
HP:0031704	Abnormal ear physiology	29940	DSE	ORPHA:2953
HP:0031704	Abnormal ear physiology	54880	BCOR	ORPHA:2712
HP:0031704	Abnormal ear physiology	54880	BCOR	ORPHA:568
HP:0031704	Abnormal ear physiology	54880	BCOR	OMIM:309800
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:1860
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:794
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:15
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:93274
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:620192
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:616482
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:85164
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:602849
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:610474
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:35099
HP:0031704	Abnormal ear physiology	84100	ARL6	OMIM:209900
HP:0031704	Abnormal ear physiology	84100	ARL6	ORPHA:110
HP:0031704	Abnormal ear physiology	79140	CCDC28B	OMIM:209900
HP:0031704	Abnormal ear physiology	582	BBS1	OMIM:209900
HP:0031704	Abnormal ear physiology	582	BBS1	ORPHA:110
HP:0031704	Abnormal ear physiology	2697	GJA1	ORPHA:2710
HP:0031704	Abnormal ear physiology	2697	GJA1	ORPHA:317
HP:0031704	Abnormal ear physiology	10087	CERT1	OMIM:616351
HP:0031704	Abnormal ear physiology	11107	PRDM5	OMIM:614170
HP:0031704	Abnormal ear physiology	4330	MN1	OMIM:618774
HP:0031704	Abnormal ear physiology	81848	SPRY4	OMIM:615266
HP:0031704	Abnormal ear physiology	57231	SNX14	OMIM:616354
HP:0031704	Abnormal ear physiology	1848	DUSP6	OMIM:615269
HP:0031704	Abnormal ear physiology	8550	MAPKAPK5	OMIM:619869
HP:0031704	Abnormal ear physiology	8036	SHOC2	ORPHA:2701
HP:0031704	Abnormal ear physiology	5500	PPP1CB	ORPHA:2701
HP:0031704	Abnormal ear physiology	54756	IL17RD	OMIM:615267
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:1856
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:166011
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:93296
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:485
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:94068
HP:0031704	Abnormal ear physiology	1280	COL2A1	OMIM:183900
HP:0031704	Abnormal ear physiology	1280	COL2A1	OMIM:609508
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:93346
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:90650
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:90652
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:1826
HP:0031704	Abnormal ear physiology	2316	FLNA	OMIM:305620
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:2484
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:54595
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:404473
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:891
HP:0031704	Abnormal ear physiology	673	BRAF	ORPHA:54595
HP:0031704	Abnormal ear physiology	673	BRAF	OMIM:115150
HP:0031704	Abnormal ear physiology	673	BRAF	OMIM:163950
HP:0031704	Abnormal ear physiology	4359	MPZ	ORPHA:101082
HP:0031704	Abnormal ear physiology	92482	BBIP1	ORPHA:110
HP:0031704	Abnormal ear physiology	80184	CEP290	ORPHA:110
HP:0031704	Abnormal ear physiology	80184	CEP290	ORPHA:65
HP:0031704	Abnormal ear physiology	11020	IFT27	ORPHA:110
HP:0031704	Abnormal ear physiology	11020	IFT27	OMIM:615996
HP:0031704	Abnormal ear physiology	49855	SCAPER	ORPHA:110
HP:0031704	Abnormal ear physiology	4867	NPHP1	ORPHA:110
HP:0031704	Abnormal ear physiology	51057	WDPCP	ORPHA:110
HP:0031704	Abnormal ear physiology	27241	BBS9	ORPHA:110
HP:0031704	Abnormal ear physiology	84984	CEP19	ORPHA:110
HP:0031704	Abnormal ear physiology	22954	TRIM32	ORPHA:110
HP:0031704	Abnormal ear physiology	54903	MKS1	ORPHA:110
HP:0031704	Abnormal ear physiology	79738	BBS10	ORPHA:110
HP:0031704	Abnormal ear physiology	123016	TTC8	ORPHA:110
HP:0031704	Abnormal ear physiology	26160	IFT172	ORPHA:110
HP:0031704	Abnormal ear physiology	583	BBS2	ORPHA:110
HP:0031704	Abnormal ear physiology	585	BBS4	ORPHA:110
HP:0031704	Abnormal ear physiology	8195	MKKS	ORPHA:110
HP:0031704	Abnormal ear physiology	54585	LZTFL1	ORPHA:110
HP:0031704	Abnormal ear physiology	55212	BBS7	ORPHA:110
HP:0031704	Abnormal ear physiology	166379	BBS12	ORPHA:110
HP:0031704	Abnormal ear physiology	10806	SDCCAG8	ORPHA:110
HP:0031704	Abnormal ear physiology	10806	SDCCAG8	OMIM:615993
HP:0031704	Abnormal ear physiology	157657	CFAP418	ORPHA:110
HP:0031704	Abnormal ear physiology	129880	BBS5	ORPHA:110
HP:0031704	Abnormal ear physiology	80173	IFT74	ORPHA:110
HP:0031704	Abnormal ear physiology	9131	AIFM1	ORPHA:101078
HP:0031704	Abnormal ear physiology	9131	AIFM1	OMIM:300614
HP:0031704	Abnormal ear physiology	9131	AIFM1	OMIM:310490
HP:0031704	Abnormal ear physiology	5476	CTSA	ORPHA:351
HP:0031704	Abnormal ear physiology	5476	CTSA	OMIM:256540
HP:0031704	Abnormal ear physiology	23767	FLRT3	OMIM:615271
HP:0031704	Abnormal ear physiology	51633	OTUD6B	OMIM:617452
HP:0031704	Abnormal ear physiology	51633	OTUD6B	ORPHA:505237
HP:0031704	Abnormal ear physiology	57167	SALL4	OMIM:147750
HP:0031704	Abnormal ear physiology	57167	SALL4	ORPHA:2307
HP:0031704	Abnormal ear physiology	57167	SALL4	ORPHA:233
HP:0031704	Abnormal ear physiology	27125	AFF4	OMIM:616368
HP:0031704	Abnormal ear physiology	27125	AFF4	ORPHA:444077
HP:0031704	Abnormal ear physiology	116115	ZNF526	OMIM:619877
HP:0031704	Abnormal ear physiology	3098	HK1	OMIM:618547
HP:0031704	Abnormal ear physiology	2705	GJB1	ORPHA:101075
HP:0031704	Abnormal ear physiology	2517	FUCA1	ORPHA:349
HP:0031704	Abnormal ear physiology	2517	FUCA1	OMIM:230000
HP:0031704	Abnormal ear physiology	2138	EYA1	ORPHA:107
HP:0031704	Abnormal ear physiology	2138	EYA1	ORPHA:52429
HP:0031704	Abnormal ear physiology	147912	SIX5	ORPHA:107
HP:0031704	Abnormal ear physiology	147912	SIX5	OMIM:610896
HP:0031704	Abnormal ear physiology	6495	SIX1	ORPHA:107
HP:0031704	Abnormal ear physiology	6495	SIX1	ORPHA:52429
HP:0031704	Abnormal ear physiology	79718	TBL1XR1	OMIM:602342
HP:0031704	Abnormal ear physiology	79718	TBL1XR1	ORPHA:487825
HP:0031704	Abnormal ear physiology	6804	STX1A	ORPHA:586
HP:0031704	Abnormal ear physiology	2947	GSTM3	ORPHA:586
HP:0031704	Abnormal ear physiology	7040	TGFB1	ORPHA:586
HP:0031704	Abnormal ear physiology	7040	TGFB1	OMIM:131300
HP:0031704	Abnormal ear physiology	7040	TGFB1	ORPHA:1328
HP:0031704	Abnormal ear physiology	2729	GCLC	ORPHA:586
HP:0031704	Abnormal ear physiology	1084	CEACAM3	ORPHA:586
HP:0031704	Abnormal ear physiology	6556	SLC11A1	ORPHA:586
HP:0031704	Abnormal ear physiology	51164	DCTN4	ORPHA:586
HP:0031704	Abnormal ear physiology	3783	KCNN4	ORPHA:586
HP:0031704	Abnormal ear physiology	4282	MIF	ORPHA:586
HP:0031704	Abnormal ear physiology	1909	EDNRA	ORPHA:586
HP:0031704	Abnormal ear physiology	6550	SLC9A3	ORPHA:586
HP:0031704	Abnormal ear physiology	3162	HMOX1	ORPHA:586
HP:0031704	Abnormal ear physiology	115019	SLC26A9	ORPHA:586
HP:0031704	Abnormal ear physiology	3077	HFE	ORPHA:586
HP:0031704	Abnormal ear physiology	11254	SLC6A14	ORPHA:586
HP:0031704	Abnormal ear physiology	5265	SERPINA1	ORPHA:586
HP:0031704	Abnormal ear physiology	1080	CFTR	ORPHA:586
HP:0031704	Abnormal ear physiology	22802	CLCA4	ORPHA:586
HP:0031704	Abnormal ear physiology	4680	CEACAM6	ORPHA:586
HP:0031704	Abnormal ear physiology	146227	BEAN1	ORPHA:217012
HP:0031704	Abnormal ear physiology	56652	TWNK	OMIM:271245
HP:0031704	Abnormal ear physiology	56652	TWNK	ORPHA:254892
HP:0031704	Abnormal ear physiology	56652	TWNK	ORPHA:1186
HP:0031704	Abnormal ear physiology	1749	DLX5	OMIM:183600
HP:0031704	Abnormal ear physiology	90	ACVR1	ORPHA:337
HP:0031704	Abnormal ear physiology	63895	PIEZO2	ORPHA:376
HP:0031704	Abnormal ear physiology	6654	SOS1	OMIM:135300
HP:0031704	Abnormal ear physiology	5354	PLP1	OMIM:312080
HP:0031704	Abnormal ear physiology	3423	IDS	OMIM:309900
HP:0031704	Abnormal ear physiology	54532	USP53	OMIM:619658
HP:0031704	Abnormal ear physiology	6885	MAP3K7	ORPHA:1826
HP:0031704	Abnormal ear physiology	51322	WAC	ORPHA:466950
HP:0031704	Abnormal ear physiology	51322	WAC	ORPHA:284169
HP:0031704	Abnormal ear physiology	51322	WAC	OMIM:616708
HP:0031704	Abnormal ear physiology	84295	PHF6	ORPHA:127
HP:0031704	Abnormal ear physiology	4615	MYD88	ORPHA:33226
HP:0031704	Abnormal ear physiology	404672	GTF2H5	OMIM:616395
HP:0031704	Abnormal ear physiology	1387	CREBBP	OMIM:618332
HP:0031704	Abnormal ear physiology	1387	CREBBP	OMIM:180849
HP:0031704	Abnormal ear physiology	2033	EP300	OMIM:618333
HP:0031704	Abnormal ear physiology	2033	EP300	OMIM:180849
HP:0031704	Abnormal ear physiology	5081	PAX7	OMIM:618578
HP:0031704	Abnormal ear physiology	4126	MANBA	ORPHA:118
HP:0031704	Abnormal ear physiology	4126	MANBA	OMIM:248510
HP:0031704	Abnormal ear physiology	7291	TWIST1	ORPHA:794
HP:0031704	Abnormal ear physiology	7291	TWIST1	OMIM:101400
HP:0031704	Abnormal ear physiology	7291	TWIST1	ORPHA:35099
HP:0031704	Abnormal ear physiology	7291	TWIST1	OMIM:617746
HP:0031704	Abnormal ear physiology	291	SLC25A4	ORPHA:254892
HP:0031704	Abnormal ear physiology	5428	POLG	ORPHA:254892
HP:0031704	Abnormal ear physiology	5428	POLG	ORPHA:254886
HP:0031704	Abnormal ear physiology	5428	POLG	OMIM:613662
HP:0031704	Abnormal ear physiology	11232	POLG2	ORPHA:254892
HP:0031704	Abnormal ear physiology	22827	PUF60	ORPHA:508498
HP:0031704	Abnormal ear physiology	9488	PIGB	OMIM:618580
HP:0031704	Abnormal ear physiology	6448	SGSH	OMIM:252900
HP:0031704	Abnormal ear physiology	695	BTK	OMIM:300755
HP:0031704	Abnormal ear physiology	695	BTK	OMIM:307200
HP:0031704	Abnormal ear physiology	6134	RPL10	OMIM:300998
HP:0031704	Abnormal ear physiology	1859	DYRK1A	ORPHA:268261
HP:0031704	Abnormal ear physiology	8573	CASK	OMIM:300749
HP:0031704	Abnormal ear physiology	27148	STK36	OMIM:619436
HP:0031704	Abnormal ear physiology	27148	STK36	ORPHA:244
HP:0031704	Abnormal ear physiology	55746	NUP133	OMIM:618349
HP:0031704	Abnormal ear physiology	79813	EHMT1	ORPHA:96147
HP:0031704	Abnormal ear physiology	79813	EHMT1	OMIM:610253
HP:0031704	Abnormal ear physiology	79813	EHMT1	ORPHA:261652
HP:0031704	Abnormal ear physiology	5308	PITX2	ORPHA:782
HP:0031704	Abnormal ear physiology	2296	FOXC1	ORPHA:782
HP:0031704	Abnormal ear physiology	55315	SLC29A3	OMIM:602782
HP:0031704	Abnormal ear physiology	55315	SLC29A3	ORPHA:168569
HP:0031704	Abnormal ear physiology	55315	SLC29A3	ORPHA:1782
HP:0031704	Abnormal ear physiology	10397	NDRG1	OMIM:601455
HP:0031704	Abnormal ear physiology	7084	TK2	ORPHA:254886
HP:0031704	Abnormal ear physiology	7084	TK2	OMIM:609560
HP:0031704	Abnormal ear physiology	3767	KCNJ11	ORPHA:99885
HP:0031704	Abnormal ear physiology	3767	KCNJ11	ORPHA:99886
HP:0031704	Abnormal ear physiology	6774	STAT3	ORPHA:99885
HP:0031704	Abnormal ear physiology	2645	GCK	ORPHA:99885
HP:0031704	Abnormal ear physiology	3651	PDX1	ORPHA:99885
HP:0031704	Abnormal ear physiology	6833	ABCC8	ORPHA:99885
HP:0031704	Abnormal ear physiology	6833	ABCC8	ORPHA:99886
HP:0031704	Abnormal ear physiology	3630	INS	ORPHA:99885
HP:0031704	Abnormal ear physiology	346171	ZFP57	ORPHA:99886
HP:0031704	Abnormal ear physiology	57061	HYMAI	ORPHA:99886
HP:0031704	Abnormal ear physiology	5325	PLAGL1	ORPHA:99886
HP:0031704	Abnormal ear physiology	801	CALM1	ORPHA:101016
HP:0031704	Abnormal ear physiology	3753	KCNE1	ORPHA:101016
HP:0031704	Abnormal ear physiology	3762	KCNJ5	ORPHA:101016
HP:0031704	Abnormal ear physiology	805	CALM2	ORPHA:101016
HP:0031704	Abnormal ear physiology	6910	TBX5	ORPHA:101016
HP:0031704	Abnormal ear physiology	6336	SCN10A	ORPHA:101016
HP:0031704	Abnormal ear physiology	3757	KCNH2	ORPHA:101016
HP:0031704	Abnormal ear physiology	9992	KCNE2	ORPHA:101016
HP:0031704	Abnormal ear physiology	10142	AKAP9	ORPHA:101016
HP:0031704	Abnormal ear physiology	9722	NOS1AP	ORPHA:101016
HP:0031704	Abnormal ear physiology	775	CACNA1C	ORPHA:101016
HP:0031704	Abnormal ear physiology	3784	KCNQ1	ORPHA:101016
HP:0031704	Abnormal ear physiology	10345	TRDN	ORPHA:101016
HP:0031704	Abnormal ear physiology	6331	SCN5A	ORPHA:101016
HP:0031704	Abnormal ear physiology	6330	SCN4B	ORPHA:101016
HP:0031704	Abnormal ear physiology	808	CALM3	ORPHA:101016
HP:0031704	Abnormal ear physiology	6640	SNTA1	ORPHA:101016
HP:0031704	Abnormal ear physiology	859	CAV3	ORPHA:101016
HP:0031704	Abnormal ear physiology	287	ANK2	ORPHA:101016
HP:0031704	Abnormal ear physiology	473	RERE	ORPHA:494344
HP:0031704	Abnormal ear physiology	5980	REV3L	ORPHA:570
HP:0031704	Abnormal ear physiology	23129	PLXND1	ORPHA:570
HP:0031704	Abnormal ear physiology	4784	NFIX	OMIM:602535
HP:0031704	Abnormal ear physiology	51434	ANAPC7	OMIM:619699
HP:0031704	Abnormal ear physiology	4998	ORC1	OMIM:224690
HP:0031704	Abnormal ear physiology	4998	ORC1	ORPHA:2554
HP:0031704	Abnormal ear physiology	4052	LTBP1	OMIM:619451
HP:0031704	Abnormal ear physiology	84068	SLC10A7	OMIM:618363
HP:0031704	Abnormal ear physiology	3756	KCNH1	OMIM:135500
HP:0031704	Abnormal ear physiology	50945	TBX22	OMIM:302905
HP:0031704	Abnormal ear physiology	201163	FLCN	OMIM:610883
HP:0031704	Abnormal ear physiology	1312	COMT	ORPHA:567
HP:0031704	Abnormal ear physiology	221037	JMJD1C	ORPHA:567
HP:0031704	Abnormal ear physiology	2812	GP1BB	ORPHA:567
HP:0031704	Abnormal ear physiology	6239	RREB1	ORPHA:567
HP:0031704	Abnormal ear physiology	6899	TBX1	ORPHA:567
HP:0031704	Abnormal ear physiology	6899	TBX1	ORPHA:1727
HP:0031704	Abnormal ear physiology	7290	HIRA	ORPHA:567
HP:0031704	Abnormal ear physiology	9632	SEC24C	ORPHA:567
HP:0031704	Abnormal ear physiology	7353	UFD1	ORPHA:567
HP:0031704	Abnormal ear physiology	421	ARVCF	ORPHA:567
HP:0031704	Abnormal ear physiology	2717	GLA	ORPHA:324
HP:0031704	Abnormal ear physiology	773	CACNA1A	ORPHA:569
HP:0031704	Abnormal ear physiology	112476	PRRT2	ORPHA:569
HP:0031704	Abnormal ear physiology	6323	SCN1A	ORPHA:569
HP:0031704	Abnormal ear physiology	477	ATP1A2	ORPHA:569
HP:0031704	Abnormal ear physiology	8260	NAA10	ORPHA:568
HP:0031704	Abnormal ear physiology	8260	NAA10	OMIM:309800
HP:0031704	Abnormal ear physiology	9132	KCNQ4	OMIM:600101
HP:0031704	Abnormal ear physiology	2778	GNAS	ORPHA:562
HP:0031704	Abnormal ear physiology	2778	GNAS	OMIM:174800
HP:0031704	Abnormal ear physiology	9935	MAFB	OMIM:617041
HP:0031704	Abnormal ear physiology	9935	MAFB	ORPHA:233
HP:0031704	Abnormal ear physiology	4613	MYCN	OMIM:164280
HP:0031704	Abnormal ear physiology	2065	ERBB3	OMIM:243180
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:166220
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:166200
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:259420
HP:0031704	Abnormal ear physiology	1278	COL1A2	OMIM:166220
HP:0031704	Abnormal ear physiology	1278	COL1A2	OMIM:259420
HP:0031704	Abnormal ear physiology	9401	RECQL4	OMIM:266280
HP:0031704	Abnormal ear physiology	2707	GJB3	ORPHA:317
HP:0031704	Abnormal ear physiology	2531	KDSR	ORPHA:317
HP:0031704	Abnormal ear physiology	127534	GJB4	ORPHA:317
HP:0031704	Abnormal ear physiology	3028	HSD17B10	ORPHA:391428
HP:0031704	Abnormal ear physiology	6390	SDHB	ORPHA:97286
HP:0031704	Abnormal ear physiology	6390	SDHB	ORPHA:201
HP:0031704	Abnormal ear physiology	6391	SDHC	ORPHA:97286
HP:0031704	Abnormal ear physiology	6391	SDHC	ORPHA:201
HP:0031704	Abnormal ear physiology	6392	SDHD	ORPHA:97286
HP:0031704	Abnormal ear physiology	6392	SDHD	ORPHA:201
HP:0031704	Abnormal ear physiology	134218	DNAJC21	OMIM:617052
HP:0031704	Abnormal ear physiology	134218	DNAJC21	ORPHA:811
HP:0031704	Abnormal ear physiology	64840	PORCN	ORPHA:2092
HP:0031704	Abnormal ear physiology	94005	PIGS	OMIM:618143
HP:0031704	Abnormal ear physiology	6711	SPTBN1	OMIM:619475
HP:0031704	Abnormal ear physiology	1285	COL4A3	OMIM:203780
HP:0031704	Abnormal ear physiology	1285	COL4A3	OMIM:104200
HP:0031704	Abnormal ear physiology	1286	COL4A4	OMIM:203780
HP:0031704	Abnormal ear physiology	10413	YAP1	OMIM:120433
HP:0031704	Abnormal ear physiology	5184	PEPD	ORPHA:742
HP:0031704	Abnormal ear physiology	25839	COG4	OMIM:618150
HP:0031704	Abnormal ear physiology	51360	MBTPS2	OMIM:308205
HP:0031704	Abnormal ear physiology	51360	MBTPS2	ORPHA:85284
HP:0031704	Abnormal ear physiology	51360	MBTPS2	OMIM:301014
HP:0031704	Abnormal ear physiology	6872	TAF1	OMIM:300966
HP:0031704	Abnormal ear physiology	6872	TAF1	ORPHA:480907
HP:0031704	Abnormal ear physiology	8567	MADD	OMIM:619004
HP:0031704	Abnormal ear physiology	374879	ZNF699	OMIM:619488
HP:0031704	Abnormal ear physiology	8239	USP9X	OMIM:300968
HP:0031704	Abnormal ear physiology	8239	USP9X	ORPHA:480880
HP:0031704	Abnormal ear physiology	8318	CDC45	OMIM:617063
HP:0031704	Abnormal ear physiology	8318	CDC45	ORPHA:2554
HP:0031704	Abnormal ear physiology	23112	TNRC6B	OMIM:619243
HP:0031704	Abnormal ear physiology	1654	DDX3X	OMIM:300958
HP:0031704	Abnormal ear physiology	1654	DDX3X	ORPHA:457260
HP:0031704	Abnormal ear physiology	6663	SOX10	OMIM:609136
HP:0031704	Abnormal ear physiology	6663	SOX10	ORPHA:897
HP:0031704	Abnormal ear physiology	6663	SOX10	ORPHA:895
HP:0031704	Abnormal ear physiology	2799	GNS	OMIM:252940
HP:0031704	Abnormal ear physiology	50964	SOST	OMIM:122860
HP:0031704	Abnormal ear physiology	50964	SOST	OMIM:269500
HP:0031704	Abnormal ear physiology	55670	PEX26	ORPHA:772
HP:0031704	Abnormal ear physiology	5824	PEX19	ORPHA:772
HP:0031704	Abnormal ear physiology	5828	PEX2	ORPHA:772
HP:0031704	Abnormal ear physiology	5828	PEX2	OMIM:614866
HP:0031704	Abnormal ear physiology	8504	PEX3	ORPHA:772
HP:0031704	Abnormal ear physiology	9409	PEX16	ORPHA:772
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:772
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:95433
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:3220
HP:0031704	Abnormal ear physiology	8799	PEX11B	ORPHA:772
HP:0031704	Abnormal ear physiology	5830	PEX5	ORPHA:772
HP:0031704	Abnormal ear physiology	5189	PEX1	ORPHA:772
HP:0031704	Abnormal ear physiology	5189	PEX1	ORPHA:3220
HP:0031704	Abnormal ear physiology	5189	PEX1	OMIM:214100
HP:0031704	Abnormal ear physiology	5193	PEX12	ORPHA:772
HP:0031704	Abnormal ear physiology	5194	PEX13	ORPHA:772
HP:0031704	Abnormal ear physiology	5194	PEX13	OMIM:614885
HP:0031704	Abnormal ear physiology	5195	PEX14	ORPHA:772
HP:0031704	Abnormal ear physiology	5192	PEX10	ORPHA:772
HP:0031704	Abnormal ear physiology	10084	PQBP1	OMIM:309500
HP:0031704	Abnormal ear physiology	4256	MGP	OMIM:245150
HP:0031704	Abnormal ear physiology	4256	MGP	ORPHA:85202
HP:0031704	Abnormal ear physiology	5745	PTH1R	OMIM:156400
HP:0031704	Abnormal ear physiology	84231	TRAF7	OMIM:618164
HP:0031704	Abnormal ear physiology	10273	STUB1	ORPHA:412057
HP:0031704	Abnormal ear physiology	84464	SLX4	OMIM:613951
HP:0031704	Abnormal ear physiology	84464	SLX4	ORPHA:84
HP:0031704	Abnormal ear physiology	138050	HGSNAT	OMIM:252930
HP:0031704	Abnormal ear physiology	617	BCS1L	ORPHA:53693
HP:0031704	Abnormal ear physiology	617	BCS1L	OMIM:124000
HP:0031704	Abnormal ear physiology	253827	MSRB3	OMIM:613718
HP:0031704	Abnormal ear physiology	116150	NUS1	OMIM:617082
HP:0031704	Abnormal ear physiology	55181	SMG8	OMIM:619268
HP:0031704	Abnormal ear physiology	9927	MFN2	OMIM:617087
HP:0031704	Abnormal ear physiology	9927	MFN2	OMIM:609260
HP:0031704	Abnormal ear physiology	84168	ANTXR1	ORPHA:2067
HP:0031704	Abnormal ear physiology	27445	PCLO	OMIM:608027
HP:0031704	Abnormal ear physiology	6342	SCP2	OMIM:613724
HP:0031704	Abnormal ear physiology	4669	NAGLU	OMIM:252920
HP:0031704	Abnormal ear physiology	8085	KMT2D	OMIM:147920
HP:0031704	Abnormal ear physiology	7403	KDM6A	OMIM:147920
HP:0031704	Abnormal ear physiology	7403	KDM6A	OMIM:300867
HP:0031704	Abnormal ear physiology	6309	SC5D	ORPHA:46059
HP:0031704	Abnormal ear physiology	2070	EYA4	ORPHA:217622
HP:0031704	Abnormal ear physiology	128674	PROKR2	OMIM:244200
HP:0031704	Abnormal ear physiology	246243	RNASEH1	ORPHA:329336
HP:0031704	Abnormal ear physiology	10312	TCIRG1	OMIM:259700
HP:0031704	Abnormal ear physiology	10312	TCIRG1	ORPHA:667
HP:0031704	Abnormal ear physiology	10312	TCIRG1	ORPHA:1782
HP:0031704	Abnormal ear physiology	84282	RNF135	ORPHA:137634
HP:0031704	Abnormal ear physiology	324	APC	ORPHA:99818
HP:0031704	Abnormal ear physiology	324	APC	ORPHA:3258
HP:0031704	Abnormal ear physiology	10466	COG5	OMIM:613612
HP:0031704	Abnormal ear physiology	10667	FARS2	OMIM:614946
HP:0031704	Abnormal ear physiology	64324	NSD1	ORPHA:821
HP:0031704	Abnormal ear physiology	29072	SETD2	ORPHA:821
HP:0031704	Abnormal ear physiology	29072	SETD2	OMIM:620157
HP:0031704	Abnormal ear physiology	10297	APC2	ORPHA:821
HP:0031704	Abnormal ear physiology	4552	MTRR	ORPHA:2169
HP:0031704	Abnormal ear physiology	4884	NPTX1	OMIM:620158
HP:0031704	Abnormal ear physiology	4038	LRP4	ORPHA:3258
HP:0031704	Abnormal ear physiology	4038	LRP4	OMIM:614305
HP:0031704	Abnormal ear physiology	79631	EFL1	ORPHA:811
HP:0031704	Abnormal ear physiology	51119	SBDS	ORPHA:811
HP:0031704	Abnormal ear physiology	6729	SRP54	ORPHA:811
HP:0031704	Abnormal ear physiology	6197	RPS6KA3	OMIM:303600
HP:0031704	Abnormal ear physiology	23347	SMCHD1	OMIM:158901
HP:0031704	Abnormal ear physiology	50814	NSDHL	OMIM:308050
HP:0031704	Abnormal ear physiology	23522	KAT6B	OMIM:606170
HP:0031704	Abnormal ear physiology	23522	KAT6B	ORPHA:85201
HP:0031704	Abnormal ear physiology	23522	KAT6B	OMIM:603736
HP:0031704	Abnormal ear physiology	92579	G6PC3	OMIM:612541
HP:0031704	Abnormal ear physiology	55157	DARS2	ORPHA:137898
HP:0031704	Abnormal ear physiology	672	BRCA1	ORPHA:84
HP:0031704	Abnormal ear physiology	10459	MAD2L2	ORPHA:84
HP:0031704	Abnormal ear physiology	7516	XRCC2	ORPHA:84
HP:0031704	Abnormal ear physiology	29089	UBE2T	ORPHA:84
HP:0031704	Abnormal ear physiology	29089	UBE2T	OMIM:616435
HP:0031704	Abnormal ear physiology	675	BRCA2	ORPHA:84
HP:0031704	Abnormal ear physiology	55120	FANCL	ORPHA:84
HP:0031704	Abnormal ear physiology	2177	FANCD2	ORPHA:84
HP:0031704	Abnormal ear physiology	2177	FANCD2	OMIM:227646
HP:0031704	Abnormal ear physiology	2175	FANCA	ORPHA:84
HP:0031704	Abnormal ear physiology	2175	FANCA	OMIM:227650
HP:0031704	Abnormal ear physiology	2187	FANCB	ORPHA:84
HP:0031704	Abnormal ear physiology	2176	FANCC	ORPHA:84
HP:0031704	Abnormal ear physiology	2176	FANCC	OMIM:227645
HP:0031704	Abnormal ear physiology	2178	FANCE	ORPHA:84
HP:0031704	Abnormal ear physiology	2178	FANCE	OMIM:600901
HP:0031704	Abnormal ear physiology	2188	FANCF	ORPHA:84
HP:0031704	Abnormal ear physiology	2189	FANCG	ORPHA:84
HP:0031704	Abnormal ear physiology	5888	RAD51	ORPHA:84
HP:0031704	Abnormal ear physiology	5889	RAD51C	ORPHA:84
HP:0031704	Abnormal ear physiology	55159	RFWD3	ORPHA:84
HP:0031704	Abnormal ear physiology	83990	BRIP1	ORPHA:84
HP:0031704	Abnormal ear physiology	57697	FANCM	ORPHA:84
HP:0031704	Abnormal ear physiology	79728	PALB2	ORPHA:84
HP:0031704	Abnormal ear physiology	2072	ERCC4	ORPHA:84
HP:0031704	Abnormal ear physiology	2072	ERCC4	ORPHA:90321
HP:0031704	Abnormal ear physiology	2072	ERCC4	OMIM:610965
HP:0031704	Abnormal ear physiology	2072	ERCC4	ORPHA:910
HP:0031704	Abnormal ear physiology	2072	ERCC4	OMIM:278760
HP:0031704	Abnormal ear physiology	2072	ERCC4	ORPHA:220295
HP:0031704	Abnormal ear physiology	55215	FANCI	ORPHA:84
HP:0031704	Abnormal ear physiology	2260	FGFR1	ORPHA:93258
HP:0031704	Abnormal ear physiology	10367	MICU1	ORPHA:401768
HP:0031704	Abnormal ear physiology	6687	SPG7	OMIM:607259
HP:0031704	Abnormal ear physiology	215	ABCD1	OMIM:300100
HP:0031704	Abnormal ear physiology	215	ABCD1	ORPHA:139396
HP:0031704	Abnormal ear physiology	9896	FIG4	ORPHA:3472
HP:0031704	Abnormal ear physiology	9896	FIG4	ORPHA:208441
HP:0031704	Abnormal ear physiology	55697	VAC14	ORPHA:3472
HP:0031704	Abnormal ear physiology	9445	ITM2B	OMIM:117300
HP:0031704	Abnormal ear physiology	9184	BUB3	ORPHA:1052
HP:0031704	Abnormal ear physiology	699	BUB1	ORPHA:1052
HP:0031704	Abnormal ear physiology	9702	CEP57	ORPHA:1052
HP:0031704	Abnormal ear physiology	9702	CEP57	OMIM:614114
HP:0031704	Abnormal ear physiology	9319	TRIP13	ORPHA:1052
HP:0031704	Abnormal ear physiology	701	BUB1B	ORPHA:1052
HP:0031704	Abnormal ear physiology	1906	EDN1	ORPHA:137888
HP:0031704	Abnormal ear physiology	5332	PLCB4	ORPHA:137888
HP:0031704	Abnormal ear physiology	5332	PLCB4	OMIM:614669
HP:0031704	Abnormal ear physiology	2773	GNAI3	ORPHA:137888
HP:0031704	Abnormal ear physiology	25942	SIN3A	OMIM:613406
HP:0031704	Abnormal ear physiology	25942	SIN3A	ORPHA:500166
HP:0031704	Abnormal ear physiology	25942	SIN3A	ORPHA:94065
HP:0031704	Abnormal ear physiology	3425	IDUA	OMIM:607014
HP:0031704	Abnormal ear physiology	3425	IDUA	ORPHA:93473
HP:0031704	Abnormal ear physiology	9487	PIGL	ORPHA:3474
HP:0031704	Abnormal ear physiology	113278	SLC52A3	OMIM:211530
HP:0031704	Abnormal ear physiology	2395	FXN	ORPHA:95
HP:0031704	Abnormal ear physiology	3475	IFRD1	ORPHA:98771
HP:0031704	Abnormal ear physiology	3735	KARS1	OMIM:619196
HP:0031704	Abnormal ear physiology	1798	DPAGT1	ORPHA:86309
HP:0031704	Abnormal ear physiology	3769	KCNJ13	ORPHA:65
HP:0031704	Abnormal ear physiology	343035	RD3	ORPHA:65
HP:0031704	Abnormal ear physiology	145226	RDH12	ORPHA:65
HP:0031704	Abnormal ear physiology	1406	CRX	ORPHA:65
HP:0031704	Abnormal ear physiology	64802	NMNAT1	ORPHA:65
HP:0031704	Abnormal ear physiology	57096	RPGRIP1	ORPHA:65
HP:0031704	Abnormal ear physiology	10383	TUBB4B	ORPHA:65
HP:0031704	Abnormal ear physiology	9742	IFT140	ORPHA:65
HP:0031704	Abnormal ear physiology	85015	USP45	ORPHA:65
HP:0031704	Abnormal ear physiology	6121	RPE65	ORPHA:65
HP:0031704	Abnormal ear physiology	23418	CRB1	ORPHA:65
HP:0031704	Abnormal ear physiology	5130	PCYT1A	ORPHA:65
HP:0031704	Abnormal ear physiology	9657	IQCB1	ORPHA:65
HP:0031704	Abnormal ear physiology	392255	GDF6	ORPHA:65
HP:0031704	Abnormal ear physiology	392255	GDF6	ORPHA:2345
HP:0031704	Abnormal ear physiology	392255	GDF6	OMIM:118100
HP:0031704	Abnormal ear physiology	23746	AIPL1	ORPHA:65
HP:0031704	Abnormal ear physiology	3000	GUCY2D	ORPHA:65
HP:0031704	Abnormal ear physiology	9227	LRAT	ORPHA:65
HP:0031704	Abnormal ear physiology	55812	SPATA7	ORPHA:65
HP:0031704	Abnormal ear physiology	7287	TULP1	ORPHA:65
HP:0031704	Abnormal ear physiology	167691	LCA5	ORPHA:65
HP:0031704	Abnormal ear physiology	3614	IMPDH1	ORPHA:65
HP:0031704	Abnormal ear physiology	7025	NR2F1	ORPHA:401777
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:191900
HP:0031704	Abnormal ear physiology	114548	NLRP3	ORPHA:1451
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:120100
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:607115
HP:0031704	Abnormal ear physiology	6135	RPL11	OMIM:612562
HP:0031704	Abnormal ear physiology	5376	PMP22	OMIM:118220
HP:0031704	Abnormal ear physiology	3035	HARS1	OMIM:614504
HP:0031704	Abnormal ear physiology	84720	PIGO	OMIM:614749
HP:0031704	Abnormal ear physiology	3748	KCNC3	ORPHA:98768
HP:0031704	Abnormal ear physiology	3748	KCNC3	OMIM:605259
HP:0031704	Abnormal ear physiology	10907	TXNL4A	OMIM:608572
HP:0031704	Abnormal ear physiology	2255	FGF10	OMIM:620193
HP:0031704	Abnormal ear physiology	4036	LRP2	OMIM:222448
HP:0031704	Abnormal ear physiology	79228	THOC6	ORPHA:363444
HP:0031704	Abnormal ear physiology	2934	GSN	ORPHA:85448
HP:0031704	Abnormal ear physiology	8481	OFD1	OMIM:311200
HP:0031704	Abnormal ear physiology	8481	OFD1	ORPHA:2750
HP:0031704	Abnormal ear physiology	8481	OFD1	ORPHA:244
HP:0031704	Abnormal ear physiology	415	ARSL	OMIM:302950
HP:0031704	Abnormal ear physiology	64116	SLC39A8	ORPHA:468699
HP:0031704	Abnormal ear physiology	64116	SLC39A8	OMIM:616721
HP:0031704	Abnormal ear physiology	10682	EBP	OMIM:302960
HP:0031704	Abnormal ear physiology	1186	CLCN7	ORPHA:53
HP:0031704	Abnormal ear physiology	1186	CLCN7	ORPHA:667
HP:0031704	Abnormal ear physiology	9573	GDF3	ORPHA:2345
HP:0031704	Abnormal ear physiology	4222	MEOX1	ORPHA:2345
HP:0031704	Abnormal ear physiology	7319	UBE2A	ORPHA:163956
HP:0031704	Abnormal ear physiology	9894	TELO2	OMIM:616954
HP:0031704	Abnormal ear physiology	9894	TELO2	ORPHA:488642
HP:0031704	Abnormal ear physiology	4089	SMAD4	ORPHA:2588
HP:0031704	Abnormal ear physiology	4089	SMAD4	OMIM:139210
HP:0031704	Abnormal ear physiology	10075	HUWE1	OMIM:309590
HP:0031704	Abnormal ear physiology	10735	STAG2	OMIM:301043
HP:0031704	Abnormal ear physiology	84627	ZNF469	OMIM:229200
HP:0031704	Abnormal ear physiology	5648	MASP1	OMIM:257920
HP:0031704	Abnormal ear physiology	5648	MASP1	ORPHA:293843
HP:0031704	Abnormal ear physiology	55593	OTUD5	OMIM:301056
HP:0031704	Abnormal ear physiology	79587	CARS2	ORPHA:477774
HP:0031704	Abnormal ear physiology	79587	CARS2	OMIM:616672
HP:0031704	Abnormal ear physiology	10229	COQ7	OMIM:616733
HP:0031704	Abnormal ear physiology	83479	DDX59	OMIM:174300
HP:0031704	Abnormal ear physiology	5076	PAX2	ORPHA:1475
HP:0031704	Abnormal ear physiology	117581	TWIST2	ORPHA:1231
HP:0031704	Abnormal ear physiology	117581	TWIST2	OMIM:209885
HP:0031704	Abnormal ear physiology	117581	TWIST2	OMIM:200110
HP:0031704	Abnormal ear physiology	117581	TWIST2	ORPHA:920
HP:0031704	Abnormal ear physiology	4000	LMNA	ORPHA:90153
HP:0031704	Abnormal ear physiology	10651	MTX2	ORPHA:90153
HP:0031704	Abnormal ear physiology	85358	SHANK3	ORPHA:48652
HP:0031704	Abnormal ear physiology	85358	SHANK3	OMIM:606232
HP:0031704	Abnormal ear physiology	6597	SMARCA4	ORPHA:1465
HP:0031704	Abnormal ear physiology	6597	SMARCA4	OMIM:614609
HP:0031704	Abnormal ear physiology	6598	SMARCB1	ORPHA:1465
HP:0031704	Abnormal ear physiology	6598	SMARCB1	OMIM:614608
HP:0031704	Abnormal ear physiology	6659	SOX4	ORPHA:1465
HP:0031704	Abnormal ear physiology	8289	ARID1A	ORPHA:1465
HP:0031704	Abnormal ear physiology	8289	ARID1A	OMIM:614607
HP:0031704	Abnormal ear physiology	5977	DPF2	ORPHA:1465
HP:0031704	Abnormal ear physiology	5977	DPF2	OMIM:618027
HP:0031704	Abnormal ear physiology	6601	SMARCC2	ORPHA:1465
HP:0031704	Abnormal ear physiology	6602	SMARCD1	ORPHA:1465
HP:0031704	Abnormal ear physiology	57492	ARID1B	ORPHA:1465
HP:0031704	Abnormal ear physiology	57492	ARID1B	OMIM:135900
HP:0031704	Abnormal ear physiology	196528	ARID2	ORPHA:1465
HP:0031704	Abnormal ear physiology	6605	SMARCE1	ORPHA:1465
HP:0031704	Abnormal ear physiology	6664	SOX11	ORPHA:1465
HP:0031704	Abnormal ear physiology	2917	GRM7	OMIM:618922
HP:0031704	Abnormal ear physiology	81620	CDT1	ORPHA:2554
HP:0031704	Abnormal ear physiology	5000	ORC4	ORPHA:2554
HP:0031704	Abnormal ear physiology	23594	ORC6	ORPHA:2554
HP:0031704	Abnormal ear physiology	990	CDC6	ORPHA:2554
HP:0031704	Abnormal ear physiology	51053	GMNN	ORPHA:2554
HP:0031704	Abnormal ear physiology	54539	NDUFB11	ORPHA:2556
HP:0031704	Abnormal ear physiology	54539	NDUFB11	OMIM:309801
HP:0031704	Abnormal ear physiology	1349	COX7B	ORPHA:2556
HP:0031704	Abnormal ear physiology	1349	COX7B	OMIM:309801
HP:0031704	Abnormal ear physiology	3052	HCCS	ORPHA:2556
HP:0031704	Abnormal ear physiology	3052	HCCS	OMIM:309801
HP:0031704	Abnormal ear physiology	4982	TNFRSF11B	OMIM:239000
HP:0031704	Abnormal ear physiology	4982	TNFRSF11B	ORPHA:2801
HP:0031704	Abnormal ear physiology	10943	MSL3	OMIM:301032
HP:0031704	Abnormal ear physiology	860	RUNX2	ORPHA:1452
HP:0031704	Abnormal ear physiology	860	RUNX2	OMIM:119600
HP:0031704	Abnormal ear physiology	4758	NEU1	ORPHA:93400
HP:0031704	Abnormal ear physiology	4758	NEU1	ORPHA:93399
HP:0031704	Abnormal ear physiology	71	ACTG1	OMIM:614583
HP:0031704	Abnormal ear physiology	5167	ENPP1	ORPHA:51608
HP:0031704	Abnormal ear physiology	368	ABCC6	ORPHA:51608
HP:0031704	Abnormal ear physiology	7249	TSC2	OMIM:613254
HP:0031704	Abnormal ear physiology	3458	IFNG	OMIM:613254
HP:0031704	Abnormal ear physiology	998	CDC42	ORPHA:487796
HP:0031704	Abnormal ear physiology	10804	GJB6	ORPHA:189
HP:0031704	Abnormal ear physiology	10804	GJB6	OMIM:612645
HP:0031704	Abnormal ear physiology	1836	SLC26A2	OMIM:222600
HP:0031704	Abnormal ear physiology	1836	SLC26A2	ORPHA:628
HP:0031704	Abnormal ear physiology	55617	TASP1	OMIM:618950
HP:0031704	Abnormal ear physiology	114928	GPRASP2	OMIM:301018
HP:0031704	Abnormal ear physiology	1786	DNMT1	OMIM:614116
HP:0031704	Abnormal ear physiology	6389	SDHA	ORPHA:255241
HP:0031704	Abnormal ear physiology	80704	SLC19A3	ORPHA:255241
HP:0031704	Abnormal ear physiology	91942	NDUFAF2	ORPHA:255241
HP:0031704	Abnormal ear physiology	6834	SURF1	ORPHA:255241
HP:0031704	Abnormal ear physiology	6834	SURF1	OMIM:616684
HP:0031704	Abnormal ear physiology	6834	SURF1	ORPHA:70474
HP:0031704	Abnormal ear physiology	4723	NDUFV1	ORPHA:255241
HP:0031704	Abnormal ear physiology	55572	FOXRED1	ORPHA:255241
HP:0031704	Abnormal ear physiology	4729	NDUFV2	ORPHA:255241
HP:0031704	Abnormal ear physiology	55967	NDUFA12	ORPHA:255241
HP:0031704	Abnormal ear physiology	51204	TACO1	ORPHA:255241
HP:0031704	Abnormal ear physiology	4720	NDUFS2	ORPHA:255241
HP:0031704	Abnormal ear physiology	4720	NDUFS2	ORPHA:70474
HP:0031704	Abnormal ear physiology	4724	NDUFS4	ORPHA:255241
HP:0031704	Abnormal ear physiology	4728	NDUFS8	ORPHA:255241
HP:0031704	Abnormal ear physiology	137682	NDUFAF6	ORPHA:255241
HP:0031704	Abnormal ear physiology	4722	NDUFS3	ORPHA:255241
HP:0031704	Abnormal ear physiology	79133	NDUFAF5	ORPHA:255241
HP:0031704	Abnormal ear physiology	5160	PDHA1	ORPHA:255241
HP:0031704	Abnormal ear physiology	100131801	PET100	ORPHA:255241
HP:0031704	Abnormal ear physiology	1355	COX15	ORPHA:255241
HP:0031704	Abnormal ear physiology	1892	ECHS1	ORPHA:255241
HP:0031704	Abnormal ear physiology	1892	ECHS1	OMIM:616277
HP:0031704	Abnormal ear physiology	123263	MTFMT	ORPHA:255241
HP:0031704	Abnormal ear physiology	51079	NDUFA13	ORPHA:255241
HP:0031704	Abnormal ear physiology	51079	NDUFA13	OMIM:618249
HP:0031704	Abnormal ear physiology	374291	NDUFS7	ORPHA:255241
HP:0031704	Abnormal ear physiology	4705	NDUFA10	ORPHA:255241
HP:0031704	Abnormal ear physiology	51601	LIPT1	ORPHA:255241
HP:0031704	Abnormal ear physiology	4719	NDUFS1	ORPHA:255241
HP:0031704	Abnormal ear physiology	4695	NDUFA2	ORPHA:255241
HP:0031704	Abnormal ear physiology	4697	NDUFA4	ORPHA:255241
HP:0031704	Abnormal ear physiology	4704	NDUFA9	ORPHA:255241
HP:0031704	Abnormal ear physiology	4704	NDUFA9	OMIM:618247
HP:0031704	Abnormal ear physiology	4094	MAF	OMIM:601088
HP:0031704	Abnormal ear physiology	259266	ASPM	OMIM:608716
HP:0031704	Abnormal ear physiology	6651	SON	ORPHA:500150
HP:0031704	Abnormal ear physiology	23558	WBP2	OMIM:617639
HP:0031704	Abnormal ear physiology	64787	EPS8L2	OMIM:617637
HP:0031704	Abnormal ear physiology	79784	MYH14	OMIM:614369
HP:0031704	Abnormal ear physiology	4621	MYH3	ORPHA:2990
HP:0031704	Abnormal ear physiology	4621	MYH3	OMIM:178110
HP:0031704	Abnormal ear physiology	4621	MYH3	OMIM:193700
HP:0031704	Abnormal ear physiology	4621	MYH3	ORPHA:2053
HP:0031704	Abnormal ear physiology	1146	CHRNG	ORPHA:2990
HP:0031704	Abnormal ear physiology	5286	PIK3C2A	ORPHA:557003
HP:0031704	Abnormal ear physiology	5286	PIK3C2A	OMIM:618440
HP:0031704	Abnormal ear physiology	5205	ATP8B1	OMIM:243300
HP:0031704	Abnormal ear physiology	87178	PNPT1	OMIM:608703
HP:0031704	Abnormal ear physiology	87178	PNPT1	OMIM:614934
HP:0031704	Abnormal ear physiology	23309	SIN3B	ORPHA:500166
HP:0031704	Abnormal ear physiology	1468	SLC25A10	OMIM:618972
HP:0031704	Abnormal ear physiology	5087	PBX1	OMIM:617641
HP:0031704	Abnormal ear physiology	4747	NEFL	OMIM:617882
HP:0031704	Abnormal ear physiology	389207	GRXCR1	OMIM:613285
HP:0031704	Abnormal ear physiology	4281	MID1	ORPHA:2745
HP:0031704	Abnormal ear physiology	8398	PLA2G6	OMIM:256600
HP:0031704	Abnormal ear physiology	242	ALOX12B	ORPHA:79394
HP:0031704	Abnormal ear physiology	204219	CERS3	ORPHA:79394
HP:0031704	Abnormal ear physiology	26154	ABCA12	ORPHA:79394
HP:0031704	Abnormal ear physiology	285848	PNPLA1	ORPHA:79394
HP:0031704	Abnormal ear physiology	59344	ALOXE3	ORPHA:79394
HP:0031704	Abnormal ear physiology	348938	NIPAL4	ORPHA:79394
HP:0031704	Abnormal ear physiology	7051	TGM1	ORPHA:79394
HP:0031704	Abnormal ear physiology	352909	DNAAF3	OMIM:606763
HP:0031704	Abnormal ear physiology	352909	DNAAF3	ORPHA:244
HP:0031704	Abnormal ear physiology	10617	STAMBP	OMIM:614261
HP:0031704	Abnormal ear physiology	8367	H4C5	OMIM:619950
HP:0031704	Abnormal ear physiology	8294	H4C9	OMIM:619951
HP:0031704	Abnormal ear physiology	55823	VPS11	OMIM:616683
HP:0031704	Abnormal ear physiology	22880	MORC2	OMIM:616688
HP:0031704	Abnormal ear physiology	22880	MORC2	OMIM:619090
HP:0031704	Abnormal ear physiology	22880	MORC2	ORPHA:466768
HP:0031704	Abnormal ear physiology	4047	LSS	ORPHA:2850
HP:0031704	Abnormal ear physiology	197	AHSG	ORPHA:2850
HP:0031704	Abnormal ear physiology	3694	ITGB6	ORPHA:2850
HP:0031704	Abnormal ear physiology	1161	ERCC8	ORPHA:90321
HP:0031704	Abnormal ear physiology	1161	ERCC8	ORPHA:90322
HP:0031704	Abnormal ear physiology	2074	ERCC6	ORPHA:90321
HP:0031704	Abnormal ear physiology	2074	ERCC6	ORPHA:90322
HP:0031704	Abnormal ear physiology	2067	ERCC1	ORPHA:90322
HP:0031704	Abnormal ear physiology	6720	SREBF1	OMIM:158310
HP:0031704	Abnormal ear physiology	114803	MYSM1	ORPHA:508542
HP:0031704	Abnormal ear physiology	4522	MTHFD1	OMIM:617780
HP:0031704	Abnormal ear physiology	3021	H3-3B	OMIM:619721
HP:0031704	Abnormal ear physiology	79639	TMEM53	OMIM:619727
HP:0031704	Abnormal ear physiology	23562	CLDN14	OMIM:614035
HP:0031704	Abnormal ear physiology	10730	YME1L1	OMIM:617302
HP:0031704	Abnormal ear physiology	7086	TKT	ORPHA:488618
HP:0031704	Abnormal ear physiology	137492	VPS37A	ORPHA:319199
HP:0031704	Abnormal ear physiology	10584	COLEC10	OMIM:248340
HP:0031704	Abnormal ear physiology	10584	COLEC10	ORPHA:293843
HP:0031704	Abnormal ear physiology	284058	KANSL1	ORPHA:363958
HP:0031704	Abnormal ear physiology	284058	KANSL1	ORPHA:363965
HP:0031704	Abnormal ear physiology	9469	CHST3	OMIM:143095
HP:0031704	Abnormal ear physiology	91869	RFT1	ORPHA:244310
HP:0031704	Abnormal ear physiology	7021	TFAP2B	ORPHA:46627
HP:0031704	Abnormal ear physiology	90993	CREB3L1	OMIM:616229
HP:0031704	Abnormal ear physiology	1009	CDH11	OMIM:619736
HP:0031704	Abnormal ear physiology	64359	NXN	ORPHA:1507
HP:0031704	Abnormal ear physiology	4920	ROR2	ORPHA:1507
HP:0031704	Abnormal ear physiology	7020	TFAP2A	OMIM:113620
HP:0031704	Abnormal ear physiology	652	BMP4	OMIM:607932
HP:0031704	Abnormal ear physiology	10815	CPLX1	ORPHA:280
HP:0031704	Abnormal ear physiology	54872	PIGG	ORPHA:280
HP:0031704	Abnormal ear physiology	7469	NELFA	ORPHA:280
HP:0031704	Abnormal ear physiology	1487	CTBP1	ORPHA:280
HP:0031704	Abnormal ear physiology	3954	LETM1	ORPHA:280
HP:0031704	Abnormal ear physiology	7468	NSD2	ORPHA:280
HP:0031704	Abnormal ear physiology	22872	SEC31A	OMIM:618651
HP:0031704	Abnormal ear physiology	7466	WFS1	OMIM:614296
HP:0031704	Abnormal ear physiology	56992	KIF15	OMIM:619981
HP:0031704	Abnormal ear physiology	57178	ZMIZ1	OMIM:618659
HP:0031704	Abnormal ear physiology	79731	NARS2	OMIM:616239
HP:0031704	Abnormal ear physiology	55623	THUMPD1	OMIM:619989
HP:0031704	Abnormal ear physiology	3476	IGBP1	ORPHA:52055
HP:0031704	Abnormal ear physiology	1123	CHN1	ORPHA:233
HP:0031704	Abnormal ear physiology	3981	LIG4	ORPHA:235
HP:0031704	Abnormal ear physiology	54888	NSUN2	ORPHA:235
HP:0031704	Abnormal ear physiology	79633	FAT4	OMIM:616006
HP:0031704	Abnormal ear physiology	79633	FAT4	OMIM:615546
HP:0031704	Abnormal ear physiology	54902	TTC19	OMIM:615157
HP:0031704	Abnormal ear physiology	25981	DNAH1	OMIM:617577
HP:0031704	Abnormal ear physiology	25981	DNAH1	ORPHA:244
HP:0031704	Abnormal ear physiology	285362	SUMF1	OMIM:272200
HP:0031704	Abnormal ear physiology	26137	ZBTB20	OMIM:259050
HP:0031704	Abnormal ear physiology	54928	BPNT2	OMIM:614078
HP:0031704	Abnormal ear physiology	8792	TNFRSF11A	ORPHA:2801
HP:0031704	Abnormal ear physiology	8792	TNFRSF11A	ORPHA:1782
HP:0031704	Abnormal ear physiology	8878	SQSTM1	OMIM:167250
HP:0031704	Abnormal ear physiology	8878	SQSTM1	OMIM:617145
HP:0031704	Abnormal ear physiology	10743	RAI1	ORPHA:1713
HP:0031704	Abnormal ear physiology	10743	RAI1	OMIM:182290
HP:0031704	Abnormal ear physiology	5459	POU4F3	OMIM:602459
HP:0031704	Abnormal ear physiology	2706	GJB2	ORPHA:494
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:124500
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:149200
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:148350
HP:0031704	Abnormal ear physiology	4123	MAN2C1	OMIM:619775
HP:0031704	Abnormal ear physiology	79989	IFT56	OMIM:619534
HP:0031704	Abnormal ear physiology	10195	ALG3	ORPHA:79321
HP:0031704	Abnormal ear physiology	60681	FKBP10	OMIM:610968
HP:0031704	Abnormal ear physiology	115948	ODAD3	ORPHA:244
HP:0031704	Abnormal ear physiology	54768	HYDIN	ORPHA:244
HP:0031704	Abnormal ear physiology	51314	NME8	ORPHA:244
HP:0031704	Abnormal ear physiology	92749	DRC1	ORPHA:244
HP:0031704	Abnormal ear physiology	54970	TTC12	ORPHA:244
HP:0031704	Abnormal ear physiology	152110	NEK10	ORPHA:244
HP:0031704	Abnormal ear physiology	2302	FOXJ1	ORPHA:244
HP:0031704	Abnormal ear physiology	221421	RSPH9	ORPHA:244
HP:0031704	Abnormal ear physiology	85478	CCDC65	ORPHA:244
HP:0031704	Abnormal ear physiology	55036	CCDC40	ORPHA:244
HP:0031704	Abnormal ear physiology	51364	ZMYND10	ORPHA:244
HP:0031704	Abnormal ear physiology	64446	DNAI2	ORPHA:244
HP:0031704	Abnormal ear physiology	6674	SPAG1	ORPHA:244
HP:0031704	Abnormal ear physiology	83544	DNAL1	ORPHA:244
HP:0031704	Abnormal ear physiology	89765	RSPH1	ORPHA:244
HP:0031704	Abnormal ear physiology	83538	ODAD4	ORPHA:244
HP:0031704	Abnormal ear physiology	200373	CFAP221	ORPHA:244
HP:0031704	Abnormal ear physiology	374407	DNAJB13	ORPHA:244
HP:0031704	Abnormal ear physiology	55172	DNAAF2	ORPHA:244
HP:0031704	Abnormal ear physiology	161582	DNAAF4	ORPHA:244
HP:0031704	Abnormal ear physiology	2622	GAS8	ORPHA:244
HP:0031704	Abnormal ear physiology	23639	DNAAF11	ORPHA:244
HP:0031704	Abnormal ear physiology	27019	DNAI1	ORPHA:244
HP:0031704	Abnormal ear physiology	345895	RSPH4A	ORPHA:244
HP:0031704	Abnormal ear physiology	54919	DNAAF5	ORPHA:244
HP:0031704	Abnormal ear physiology	6103	RPGR	ORPHA:244
HP:0031704	Abnormal ear physiology	388389	CCDC103	ORPHA:244
HP:0031704	Abnormal ear physiology	93233	ODAD1	ORPHA:244
HP:0031704	Abnormal ear physiology	55130	ODAD2	ORPHA:244
HP:0031704	Abnormal ear physiology	1767	DNAH5	ORPHA:244
HP:0031704	Abnormal ear physiology	83861	RSPH3	ORPHA:244
HP:0031704	Abnormal ear physiology	345643	MCIDAS	ORPHA:244
HP:0031704	Abnormal ear physiology	56683	CFAP298	ORPHA:244
HP:0031704	Abnormal ear physiology	79925	SPEF2	ORPHA:244
HP:0031704	Abnormal ear physiology	10309	CCNO	ORPHA:244
HP:0031704	Abnormal ear physiology	115399	LRRC56	ORPHA:244
HP:0031704	Abnormal ear physiology	139212	DNAAF6	ORPHA:244
HP:0031704	Abnormal ear physiology	123872	DNAAF1	ORPHA:244
HP:0031704	Abnormal ear physiology	85016	CFAP300	ORPHA:244
HP:0031704	Abnormal ear physiology	339829	CCDC39	ORPHA:244
HP:0031704	Abnormal ear physiology	8701	DNAH11	ORPHA:244
HP:0031704	Abnormal ear physiology	1770	DNAH9	ORPHA:244
HP:0031704	Abnormal ear physiology	246176	GAS2L2	ORPHA:244
HP:0031704	Abnormal ear physiology	79628	SH3TC2	OMIM:601596
HP:0031704	Abnormal ear physiology	29893	PSMC3IP	ORPHA:243
HP:0031704	Abnormal ear physiology	171568	POLR3H	ORPHA:243
HP:0031704	Abnormal ear physiology	2516	NR5A1	ORPHA:243
HP:0031704	Abnormal ear physiology	125150	ZSWIM7	ORPHA:243
HP:0031704	Abnormal ear physiology	9210	BMP15	ORPHA:243
HP:0031704	Abnormal ear physiology	57122	NUP107	ORPHA:243
HP:0031704	Abnormal ear physiology	23514	SPIDR	ORPHA:243
HP:0031704	Abnormal ear physiology	2492	FSHR	ORPHA:243
HP:0031704	Abnormal ear physiology	56945	MRPS22	ORPHA:243
HP:0031704	Abnormal ear physiology	646	BNC1	ORPHA:243
HP:0031704	Abnormal ear physiology	10262	SF3B4	ORPHA:245
HP:0031704	Abnormal ear physiology	23676	SMPX	OMIM:301075
HP:0031704	Abnormal ear physiology	10058	ABCB6	ORPHA:241
HP:0031704	Abnormal ear physiology	8295	TRRAP	OMIM:618454
HP:0031704	Abnormal ear physiology	4509	MT-ATP8	ORPHA:480
HP:0031704	Abnormal ear physiology	4567	MT-TL1	ORPHA:480
HP:0031704	Abnormal ear physiology	5111	PCNA	ORPHA:438134
HP:0031704	Abnormal ear physiology	5277	PIGA	OMIM:301072
HP:0031704	Abnormal ear physiology	5277	PIGA	OMIM:300868
HP:0031704	Abnormal ear physiology	204	AK2	ORPHA:33355
HP:0031704	Abnormal ear physiology	54808	DYM	ORPHA:239
HP:0031704	Abnormal ear physiology	3912	LAMB1	OMIM:615191
HP:0031704	Abnormal ear physiology	79879	CCDC134	OMIM:619795
HP:0031704	Abnormal ear physiology	23013	SPEN	OMIM:619312
HP:0031704	Abnormal ear physiology	127833	SYT2	OMIM:616040
HP:0031704	Abnormal ear physiology	55628	ZNF407	OMIM:619557
HP:0031704	Abnormal ear physiology	23345	SYNE1	OMIM:610743
HP:0031704	Abnormal ear physiology	29887	SNX10	ORPHA:667
HP:0031704	Abnormal ear physiology	8600	TNFSF11	ORPHA:667
HP:0031704	Abnormal ear physiology	55869	HDAC8	OMIM:300882
HP:0031704	Abnormal ear physiology	478	ATP1A3	OMIM:601338
HP:0031704	Abnormal ear physiology	29078	NDUFAF4	OMIM:618237
HP:0031704	Abnormal ear physiology	2068	ERCC2	OMIM:610756
HP:0031704	Abnormal ear physiology	2068	ERCC2	ORPHA:910
HP:0031704	Abnormal ear physiology	2068	ERCC2	ORPHA:220295
HP:0031704	Abnormal ear physiology	1908	EDN3	ORPHA:897
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:897
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:42665
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:895
HP:0031704	Abnormal ear physiology	1910	EDNRB	ORPHA:897
HP:0031704	Abnormal ear physiology	1910	EDNRB	ORPHA:895
HP:0031704	Abnormal ear physiology	1910	EDNRB	OMIM:600501
HP:0031704	Abnormal ear physiology	5077	PAX3	ORPHA:896
HP:0031704	Abnormal ear physiology	5077	PAX3	ORPHA:894
HP:0031704	Abnormal ear physiology	9126	SMC3	OMIM:610759
HP:0031704	Abnormal ear physiology	79944	L2HGDH	OMIM:236792
HP:0031704	Abnormal ear physiology	4942	OAT	ORPHA:414
HP:0031704	Abnormal ear physiology	8869	ST3GAL5	OMIM:609056
HP:0031704	Abnormal ear physiology	79955	PDZD7	OMIM:618003
HP:0031704	Abnormal ear physiology	51473	DCDC2	OMIM:617394
HP:0031704	Abnormal ear physiology	1108	CHD4	OMIM:617159
HP:0031704	Abnormal ear physiology	29920	PYCR2	ORPHA:481152
HP:0031704	Abnormal ear physiology	29920	PYCR2	OMIM:616420
HP:0031704	Abnormal ear physiology	2077	ERF	ORPHA:207
HP:0031704	Abnormal ear physiology	23389	MED13L	ORPHA:369891
HP:0031704	Abnormal ear physiology	2898	GRIK2	OMIM:619580
HP:0031704	Abnormal ear physiology	10483	SEC23B	ORPHA:201
HP:0031704	Abnormal ear physiology	5728	PTEN	ORPHA:201
HP:0031704	Abnormal ear physiology	5728	PTEN	OMIM:158350
HP:0031704	Abnormal ear physiology	207	AKT1	ORPHA:201
HP:0031704	Abnormal ear physiology	207	AKT1	OMIM:615109
HP:0031704	Abnormal ear physiology	205717	USF3	ORPHA:201
HP:0031704	Abnormal ear physiology	5290	PIK3CA	ORPHA:201
HP:0031704	Abnormal ear physiology	5290	PIK3CA	OMIM:615108
HP:0031704	Abnormal ear physiology	100144748	KLLN	ORPHA:201
HP:0031704	Abnormal ear physiology	9496	TBX4	ORPHA:261279
HP:0031704	Abnormal ear physiology	2332	FMR1	OMIM:300623
HP:0031704	Abnormal ear physiology	26276	VPS33B	OMIM:208085
HP:0031704	Abnormal ear physiology	1822	ATN1	OMIM:618494
HP:0031704	Abnormal ear physiology	26040	SETBP1	OMIM:616078
HP:0031704	Abnormal ear physiology	5144	PDE4D	ORPHA:439822
HP:0031704	Abnormal ear physiology	5144	PDE4D	ORPHA:950
HP:0031704	Abnormal ear physiology	5573	PRKAR1A	OMIM:101800
HP:0031704	Abnormal ear physiology	5573	PRKAR1A	ORPHA:950
HP:0031704	Abnormal ear physiology	11340	EXOSC8	OMIM:616081
HP:0031704	Abnormal ear physiology	3975	LHX1	ORPHA:261265
HP:0031704	Abnormal ear physiology	6928	HNF1B	ORPHA:261265
HP:0031704	Abnormal ear physiology	6928	HNF1B	ORPHA:93111
HP:0031704	Abnormal ear physiology	3852	KRT5	OMIM:619599
HP:0031704	Abnormal ear physiology	4041	LRP5	ORPHA:178377
HP:0031704	Abnormal ear physiology	4041	LRP5	ORPHA:891
HP:0031704	Abnormal ear physiology	51604	PIGT	ORPHA:369837
HP:0031704	Abnormal ear physiology	145173	B3GLCT	OMIM:261540
HP:0031704	Abnormal ear physiology	5702	PSMC3	OMIM:619354
HP:0031704	Abnormal ear physiology	440138	ALG11	ORPHA:280071
HP:0031704	Abnormal ear physiology	29123	ANKRD11	ORPHA:261250
HP:0031704	Abnormal ear physiology	57704	GBA2	ORPHA:320391
HP:0031704	Abnormal ear physiology	57704	GBA2	OMIM:614409
HP:0031704	Abnormal ear physiology	6299	SALL1	ORPHA:857
HP:0031704	Abnormal ear physiology	51339	DACT1	ORPHA:857
HP:0031704	Abnormal ear physiology	8911	CACNA1I	OMIM:620114
HP:0031704	Abnormal ear physiology	7299	TYR	ORPHA:895
HP:0031704	Abnormal ear physiology	6591	SNAI2	ORPHA:895
HP:0031704	Abnormal ear physiology	6591	SNAI2	ORPHA:2884
HP:0031704	Abnormal ear physiology	4254	KITLG	ORPHA:895
HP:0031704	Abnormal ear physiology	4693	NDP	ORPHA:891
HP:0031704	Abnormal ear physiology	23554	TSPAN12	ORPHA:891
HP:0031704	Abnormal ear physiology	79797	ZNF408	ORPHA:891
HP:0031704	Abnormal ear physiology	8322	FZD4	ORPHA:891
HP:0031704	Abnormal ear physiology	55898	UNC45A	OMIM:619377
HP:0031704	Abnormal ear physiology	55005	RMND1	OMIM:614922
HP:0031704	Abnormal ear physiology	3295	HSD17B4	OMIM:261515
HP:0031704	Abnormal ear physiology	2581	GALC	ORPHA:206436
HP:0031704	Abnormal ear physiology	2581	GALC	OMIM:245200
HP:0031704	Abnormal ear physiology	5660	PSAP	ORPHA:206436
HP:0031704	Abnormal ear physiology	4508	MT-ATP6	ORPHA:644
HP:0031704	Abnormal ear physiology	79644	SRD5A3	ORPHA:324737
HP:0031704	Abnormal ear physiology	6913	TBX15	OMIM:260660
HP:0031704	Abnormal ear physiology	6913	TBX15	ORPHA:93333
HP:0031704	Abnormal ear physiology	27161	AGO2	OMIM:619149
HP:0031704	Abnormal ear physiology	161742	SPRED1	ORPHA:137605
HP:0031704	Abnormal ear physiology	259232	NALCN	ORPHA:2053
HP:0031704	Abnormal ear physiology	8506	CNTNAP1	OMIM:618186
HP:0031704	Abnormal ear physiology	80207	OPA3	OMIM:165300
HP:0031704	Abnormal ear physiology	8496	PPFIBP1	OMIM:620024
HP:0031704	Abnormal ear physiology	132158	GLYCTK	ORPHA:941
HP:0031704	Abnormal ear physiology	374654	KIF7	OMIM:200990
HP:0031704	Abnormal ear physiology	5689	PSMB1	OMIM:620038
HP:0031704	Abnormal ear physiology	10134	BCAP31	ORPHA:369939
HP:0031704	Abnormal ear physiology	26277	TINF2	OMIM:613990
HP:0031704	Abnormal ear physiology	26277	TINF2	ORPHA:1775
HP:0031704	Abnormal ear physiology	9739	SETD1A	OMIM:619056
HP:0031704	Abnormal ear physiology	55037	PTCD3	OMIM:619057
HP:0031704	Abnormal ear physiology	84823	LMNB2	ORPHA:79087
HP:0031704	Abnormal ear physiology	7276	TTR	OMIM:105210
HP:0031704	Abnormal ear physiology	8802	SUCLG1	OMIM:245400
HP:0031704	Abnormal ear physiology	1717	DHCR7	OMIM:270400
HP:0031704	Abnormal ear physiology	2720	GLB1	OMIM:253010
HP:0031704	Abnormal ear physiology	2720	GLB1	ORPHA:79255
HP:0031704	Abnormal ear physiology	649	BMP1	OMIM:614856
HP:0031704	Abnormal ear physiology	57465	TBC1D24	OMIM:614617
HP:0031704	Abnormal ear physiology	57465	TBC1D24	OMIM:220500
HP:0031704	Abnormal ear physiology	4853	NOTCH2	ORPHA:955
HP:0031704	Abnormal ear physiology	10558	SPTLC1	ORPHA:36386
HP:0031704	Abnormal ear physiology	25923	ATL3	ORPHA:36386
HP:0031704	Abnormal ear physiology	9517	SPTLC2	ORPHA:36386
HP:0031704	Abnormal ear physiology	51062	ATL1	ORPHA:36386
HP:0031704	Abnormal ear physiology	2615	LRRC32	OMIM:619074
HP:0031704	Abnormal ear physiology	443	ASPA	OMIM:271900
HP:0031704	Abnormal ear physiology	259236	TMIE	OMIM:600971
HP:0031704	Abnormal ear physiology	8905	AP1S2	ORPHA:85335
HP:0031704	Abnormal ear physiology	1857	DVL3	ORPHA:3107
HP:0031704	Abnormal ear physiology	1857	DVL3	OMIM:616894
HP:0031704	Abnormal ear physiology	7474	WNT5A	ORPHA:3107
HP:0031704	Abnormal ear physiology	2535	FZD2	ORPHA:3107
HP:0031704	Abnormal ear physiology	8626	TP63	OMIM:129400
HP:0031704	Abnormal ear physiology	8626	TP63	OMIM:604292
HP:0031704	Abnormal ear physiology	9289	ADGRG1	ORPHA:98889
HP:0031704	Abnormal ear physiology	5297	PI4KA	ORPHA:98889
HP:0031704	Abnormal ear physiology	27286	SRPX2	ORPHA:98889
HP:0031704	Abnormal ear physiology	5700	PSMC1	OMIM:620071
HP:0031704	Abnormal ear physiology	78989	COLEC11	OMIM:265050
HP:0031704	Abnormal ear physiology	78989	COLEC11	ORPHA:293843
HP:0031704	Abnormal ear physiology	58508	KMT2C	ORPHA:261652
HP:0031704	Abnormal ear physiology	2548	GAA	ORPHA:308552
HP:0031704	Abnormal ear physiology	2548	GAA	OMIM:232300
HP:0031704	Abnormal ear physiology	3845	KRAS	ORPHA:3339
HP:0031704	Abnormal ear physiology	84919	PPP1R15B	OMIM:616817
HP:0031704	Abnormal ear physiology	6231	RPS26	OMIM:613309
HP:0031704	Abnormal ear physiology	9968	MED12	OMIM:300895
HP:0031704	Abnormal ear physiology	3329	HSPD1	ORPHA:100994
HP:0031704	Abnormal ear physiology	80067	DCAF17	OMIM:241080
HP:0031704	Abnormal ear physiology	3798	KIF5A	ORPHA:100991
HP:0031704	Abnormal ear physiology	2317	FLNB	OMIM:150250
HP:0031704	Abnormal ear physiology	25861	WHRN	OMIM:611383
HP:0031704	Abnormal ear physiology	776	CACNA1D	OMIM:614896
HP:0031704	Abnormal ear physiology	23590	PDSS1	OMIM:614651
HP:0031704	Abnormal ear physiology	91147	TMEM67	ORPHA:140976
HP:0031704	Abnormal ear physiology	51475	CABP2	OMIM:614899
HP:0031704	Abnormal ear physiology	2719	GPC3	OMIM:312870
HP:0031704	Abnormal ear physiology	2239	GPC4	OMIM:312870
HP:0031704	Abnormal ear physiology	27152	INTU	OMIM:617926
HP:0031704	Abnormal ear physiology	865	CBFB	OMIM:620099
HP:0031704	Abnormal ear physiology	7507	XPA	ORPHA:910
HP:0031704	Abnormal ear physiology	2071	ERCC3	ORPHA:910
HP:0031704	Abnormal ear physiology	2071	ERCC3	ORPHA:220295
HP:0031704	Abnormal ear physiology	7508	XPC	ORPHA:910
HP:0031704	Abnormal ear physiology	1643	DDB2	ORPHA:910
HP:0031704	Abnormal ear physiology	2073	ERCC5	ORPHA:910
HP:0031704	Abnormal ear physiology	2073	ERCC5	ORPHA:220295
HP:0031704	Abnormal ear physiology	6938	TCF12	ORPHA:35099
HP:0031704	Abnormal ear physiology	7545	ZIC1	ORPHA:35099
HP:0031704	Abnormal ear physiology	92935	MARS2	OMIM:611390
HP:0031704	Abnormal ear physiology	9780	PIEZO1	OMIM:616843
HP:0031704	Abnormal ear physiology	29926	GMPPA	OMIM:615510
HP:0031704	Abnormal ear physiology	411	ARSB	OMIM:253200
HP:0031704	Abnormal ear physiology	113179	ADAT3	ORPHA:363528
HP:0031704	Abnormal ear physiology	55784	MCTP2	ORPHA:1596
HP:0031704	Abnormal ear physiology	6657	SOX2	ORPHA:77298
HP:0031704	Abnormal ear physiology	9512	PMPCB	OMIM:617954
HP:0031704	Abnormal ear physiology	686	BTD	ORPHA:79241
HP:0031704	Abnormal ear physiology	2232	FDXR	OMIM:617717
HP:0031704	Abnormal ear physiology	2248	FGF3	ORPHA:90024
HP:0031704	Abnormal ear physiology	7421	VDR	OMIM:277440
HP:0031704	Abnormal ear physiology	54658	UGT1A1	ORPHA:79234
HP:0031704	Abnormal ear physiology	4771	NF2	OMIM:101000
HP:0031704	Abnormal ear physiology	7874	USP7	ORPHA:500055
HP:0031704	Abnormal ear physiology	2643	GCH1	ORPHA:98808
HP:0031704	Abnormal ear physiology	4929	NR4A2	ORPHA:98808
HP:0031704	Abnormal ear physiology	3615	IMPDH2	ORPHA:98808
HP:0031704	Abnormal ear physiology	2588	GALNS	OMIM:253000
HP:0031704	Abnormal ear physiology	23233	EXOC6B	ORPHA:93359
HP:0031704	Abnormal ear physiology	126792	B3GALT6	ORPHA:93359
HP:0031704	Abnormal ear physiology	51002	TPRKB	OMIM:617731
HP:0031704	Abnormal ear physiology	8405	SPOP	OMIM:618828
HP:0031704	Abnormal ear physiology	25915	NDUFAF3	ORPHA:70474
HP:0031704	Abnormal ear physiology	4714	NDUFB8	ORPHA:70474
HP:0031704	Abnormal ear physiology	9997	SCO2	ORPHA:70474
HP:0031704	Abnormal ear physiology	23630	KCNE5	ORPHA:86818
HP:0031704	Abnormal ear physiology	2182	ACSL4	ORPHA:86818
HP:0031704	Abnormal ear physiology	9949	AMMECR1	ORPHA:86818
HP:0031704	Abnormal ear physiology	55278	QRSL1	OMIM:618835
HP:0031704	Abnormal ear physiology	5188	GATB	OMIM:618838
HP:0031704	Abnormal ear physiology	283459	GATC	OMIM:618839
HP:0031704	Abnormal ear physiology	3815	KIT	ORPHA:2884
HP:0031704	Abnormal ear physiology	8241	RBM10	ORPHA:2886
HP:0031704	Abnormal ear physiology	25782	RAB3GAP2	ORPHA:401830
HP:0031704	Abnormal ear physiology	210	ALAD	ORPHA:100924
HP:0031704	Abnormal ear physiology	374462	PTPRQ	OMIM:613391
HP:0031704	Abnormal ear physiology	9197	SLC33A1	OMIM:614482
HP:0031704	Abnormal ear physiology	51780	KDM3B	OMIM:618846
HP:0031704	Abnormal ear physiology	1663	DDX11	OMIM:613398
HP:0031704	Abnormal ear physiology	2990	GUSB	OMIM:253220
HP:0031704	Abnormal ear physiology	4668	NAGA	ORPHA:79280
HP:0031704	Abnormal ear physiology	4668	NAGA	ORPHA:79279
HP:0031704	Abnormal ear physiology	5718	PSMD12	OMIM:617516
HP:0031704	Abnormal ear physiology	23592	LEMD3	ORPHA:1306
HP:0031704	Abnormal ear physiology	4848	CNOT2	OMIM:618608
HP:0031704	Abnormal ear physiology	23404	EXOSC2	OMIM:617763
HP:0031704	Abnormal ear physiology	8803	SUCLA2	OMIM:612073
HP:0031704	Abnormal ear physiology	2036	EPB41L1	OMIM:614257
HP:0031704	Abnormal ear physiology	80169	CTC1	ORPHA:1775
HP:0031704	Abnormal ear physiology	55651	NHP2	ORPHA:1775
HP:0031704	Abnormal ear physiology	79650	USB1	ORPHA:1775
HP:0031704	Abnormal ear physiology	55135	WRAP53	ORPHA:1775
HP:0031704	Abnormal ear physiology	51750	RTEL1	ORPHA:1775
HP:0031704	Abnormal ear physiology	4869	NPM1	ORPHA:1775
HP:0031704	Abnormal ear physiology	7012	TERC	ORPHA:1775
HP:0031704	Abnormal ear physiology	55505	NOP10	ORPHA:1775
HP:0031704	Abnormal ear physiology	5073	PARN	ORPHA:1775
HP:0031704	Abnormal ear physiology	7015	TERT	ORPHA:1775
HP:0031704	Abnormal ear physiology	1736	DKC1	ORPHA:1775
HP:0031704	Abnormal ear physiology	7298	TYMS	ORPHA:1775
HP:0031704	Abnormal ear physiology	6736	SRY	ORPHA:1772
HP:0031704	Abnormal ear physiology	55753	OGDHL	OMIM:619701
HP:0031704	Abnormal ear physiology	58499	ZNF462	OMIM:618619
HP:0031704	Abnormal ear physiology	5604	MAP2K1	OMIM:163950
HP:0031704	Abnormal ear physiology	5781	PTPN11	OMIM:163950
HP:0031704	Abnormal ear physiology	2737	GLI3	ORPHA:93322
HP:0031704	Abnormal ear physiology	3479	IGF1	ORPHA:73272
HP:0031704	Abnormal ear physiology	1678	TIMM8A	ORPHA:52368
HP:0031704	Abnormal ear physiology	126326	GIPC3	OMIM:601869
HP:0031704	Abnormal ear physiology	83715	ESPN	OMIM:618632
HP:0031704	Abnormal ear physiology	153562	MARVELD2	OMIM:610153
HP:0031704	Abnormal ear physiology	107	ADCY1	OMIM:610154
HP:0031704	Abnormal ear physiology	55699	IARS2	ORPHA:436174
HP:0031704	Abnormal ear physiology	9750	RIPOR2	OMIM:616515
HP:0031704	Abnormal ear physiology	3082	HGF	OMIM:608265
HP:0031704	Abnormal ear physiology	10194	TSHZ1	OMIM:607842
HP:0031704	Abnormal ear physiology	341640	FREM2	ORPHA:2052
HP:0031704	Abnormal ear physiology	80144	FRAS1	ORPHA:2052
HP:0031704	Abnormal ear physiology	80144	FRAS1	OMIM:219000
HP:0031704	Abnormal ear physiology	23426	GRIP1	ORPHA:2052
HP:0031704	Abnormal ear physiology	6228	RPS23	OMIM:617412
HP:0031704	Abnormal ear physiology	5447	POR	ORPHA:95699
HP:0031704	Abnormal ear physiology	5447	POR	OMIM:201750
HP:0031704	Abnormal ear physiology	4487	MSX1	ORPHA:199302
HP:0031704	Abnormal ear physiology	4487	MSX1	ORPHA:199306
HP:0031704	Abnormal ear physiology	5818	NECTIN1	ORPHA:199302
HP:0031704	Abnormal ear physiology	5818	NECTIN1	ORPHA:199306
HP:0031704	Abnormal ear physiology	3664	IRF6	ORPHA:199302
HP:0031704	Abnormal ear physiology	3664	IRF6	ORPHA:199306
HP:0031704	Abnormal ear physiology	1739	DLG1	ORPHA:199306
HP:0031704	Abnormal ear physiology	999	CDH1	ORPHA:199306
HP:0031704	Abnormal ear physiology	999	CDH1	ORPHA:1997
HP:0031704	Abnormal ear physiology	5156	PDGFRA	ORPHA:199306
HP:0031704	Abnormal ear physiology	9411	ARHGAP29	ORPHA:199306
HP:0031704	Abnormal ear physiology	1748	DLX4	ORPHA:199306
HP:0031704	Abnormal ear physiology	1723	DHODH	OMIM:263750
HP:0031704	Abnormal ear physiology	1723	DHODH	ORPHA:246
HP:0031704	Abnormal ear physiology	2314	FLII	ORPHA:819
HP:0031704	Abnormal ear physiology	23096	IQSEC2	ORPHA:819
HP:0031704	Abnormal ear physiology	10522	DEAF1	ORPHA:819
HP:0031704	Abnormal ear physiology	10847	SRCAP	ORPHA:2044
HP:0031704	Abnormal ear physiology	10847	SRCAP	OMIM:136140
HP:0031704	Abnormal ear physiology	9382	COG1	OMIM:611209
HP:0031704	Abnormal ear physiology	1500	CTNND1	ORPHA:1997
HP:0031704	Abnormal ear physiology	2590	GALNT2	OMIM:618885
HP:0031704	Abnormal ear physiology	1788	DNMT3A	ORPHA:276621
HP:0031704	Abnormal ear physiology	2034	EPAS1	ORPHA:276621
HP:0031704	Abnormal ear physiology	83879	CDCA7	OMIM:616910
HP:0031704	Abnormal ear physiology	2254	FGF9	ORPHA:3237
HP:0031704	Abnormal ear physiology	3590	IL11RA	OMIM:614188
HP:0031704	Abnormal ear physiology	9508	ADAMTS3	ORPHA:2136
HP:0031704	Abnormal ear physiology	1743	DLST	ORPHA:29072
HP:0031704	Abnormal ear physiology	4191	MDH2	ORPHA:29072
HP:0031704	Abnormal ear physiology	23095	KIF1B	ORPHA:29072
HP:0031704	Abnormal ear physiology	2271	FH	ORPHA:29072
HP:0031704	Abnormal ear physiology	8402	SLC25A11	ORPHA:29072
HP:0031704	Abnormal ear physiology	54949	SDHAF2	ORPHA:29072
HP:0031704	Abnormal ear physiology	55654	TMEM127	ORPHA:29072
HP:0031704	Abnormal ear physiology	4763	NF1	ORPHA:29072
HP:0031704	Abnormal ear physiology	4149	MAX	ORPHA:29072
HP:0031704	Abnormal ear physiology	145258	GSC	OMIM:602471
HP:0031704	Abnormal ear physiology	6628	SNRPB	ORPHA:1393
HP:0031704	Abnormal ear physiology	6628	SNRPB	OMIM:117650
HP:0031704	Abnormal ear physiology	55343	SLC35C1	ORPHA:99843
HP:0031704	Abnormal ear physiology	6949	TCOF1	OMIM:154500
HP:0031704	Abnormal ear physiology	6949	TCOF1	ORPHA:861
HP:0031704	Abnormal ear physiology	257	ALX3	OMIM:136760
HP:0031704	Abnormal ear physiology	9533	POLR1C	OMIM:248390
HP:0031704	Abnormal ear physiology	9533	POLR1C	ORPHA:861
HP:0031704	Abnormal ear physiology	5396	PRRX1	OMIM:202650
HP:0031704	Abnormal ear physiology	7314	UBB	ORPHA:99772
HP:0031704	Abnormal ear physiology	57822	GRHL3	ORPHA:99772
HP:0031704	Abnormal ear physiology	2623	GATA1	OMIM:190685
HP:0031704	Abnormal ear physiology	5075	PAX1	ORPHA:2792
HP:0031704	Abnormal ear physiology	7703	PCGF2	OMIM:618371
HP:0031704	Abnormal ear physiology	774	CACNA1B	OMIM:618497
HP:0031704	Abnormal ear physiology	139285	AMER1	ORPHA:2780
HP:0031704	Abnormal ear physiology	139285	AMER1	OMIM:300373
HP:0031704	Abnormal ear physiology	9343	EFTUD2	OMIM:610536
HP:0031704	Abnormal ear physiology	9343	EFTUD2	ORPHA:79113
HP:0031704	Abnormal ear physiology	84172	POLR1B	OMIM:618939
HP:0031704	Abnormal ear physiology	84172	POLR1B	ORPHA:861
HP:0031704	Abnormal ear physiology	760	CA2	ORPHA:2785
HP:0031704	Abnormal ear physiology	29957	SLC25A24	ORPHA:2095
HP:0031704	Abnormal ear physiology	29957	SLC25A24	OMIM:612289
HP:0031704	Abnormal ear physiology	65250	CPLANE1	OMIM:277170
HP:0031704	Abnormal ear physiology	65250	CPLANE1	ORPHA:2754
HP:0031704	Abnormal ear physiology	8092	ALX1	ORPHA:306542
HP:0031704	Abnormal ear physiology	28962	OSTM1	ORPHA:85179
HP:0031704	Abnormal ear physiology	246329	STAC3	ORPHA:168572
HP:0031704	Abnormal ear physiology	246329	STAC3	OMIM:255995
HP:0031704	Abnormal ear physiology	2131	EXT1	ORPHA:502
HP:0031704	Abnormal ear physiology	7227	TRPS1	ORPHA:502
HP:0031704	Abnormal ear physiology	51082	POLR1D	ORPHA:861
HP:0031704	Abnormal ear physiology	51082	POLR1D	OMIM:613717
HP:0031704	Abnormal ear physiology	1984	EIF5A	OMIM:619376
HP:0031704	Abnormal ear physiology	650	BMP2	OMIM:617877
HP:0031704	Abnormal ear physiology	4750	NEK1	ORPHA:2751
HP:0031704	Abnormal ear physiology	26123	TCTN3	ORPHA:2753
HP:0031704	Abnormal ear physiology	26123	TCTN3	ORPHA:2754
HP:0031704	Abnormal ear physiology	9851	KIAA0753	ORPHA:2754
HP:0031704	Abnormal ear physiology	5147	PDE6D	ORPHA:2754
HP:0031704	Abnormal ear physiology	51259	TMEM216	ORPHA:2754
HP:0031704	Abnormal ear physiology	90121	TSR2	OMIM:300946
HP:0031704	Abnormal ear physiology	4921	DDR2	OMIM:618175
HP:0031704	Abnormal ear physiology	2549	GAB1	OMIM:605428
HP:0031704	Abnormal ear physiology	9015	TAF1A	ORPHA:154
HP:0031704	Abnormal ear physiology	5663	PSEN1	ORPHA:154
HP:0031704	Abnormal ear physiology	7112	TMPO	ORPHA:154
HP:0031704	Abnormal ear physiology	9464	HAND2	ORPHA:154
HP:0031704	Abnormal ear physiology	4625	MYH7	ORPHA:154
HP:0031704	Abnormal ear physiology	88	ACTN2	ORPHA:154
HP:0031704	Abnormal ear physiology	10486	CAP2	ORPHA:154
HP:0031704	Abnormal ear physiology	10060	ABCC9	ORPHA:154
HP:0031704	Abnormal ear physiology	7168	TPM1	ORPHA:154
HP:0031704	Abnormal ear physiology	7414	VCL	ORPHA:154
HP:0031704	Abnormal ear physiology	1832	DSP	ORPHA:154
HP:0031704	Abnormal ear physiology	70	ACTC1	ORPHA:154
HP:0031704	Abnormal ear physiology	27063	ANKRD1	ORPHA:154
HP:0031704	Abnormal ear physiology	8048	CSRP3	ORPHA:154
HP:0031704	Abnormal ear physiology	1410	CRYAB	ORPHA:154
HP:0031704	Abnormal ear physiology	7139	TNNT2	ORPHA:154
HP:0031704	Abnormal ear physiology	1829	DSG2	ORPHA:154
HP:0031704	Abnormal ear physiology	3910	LAMA4	ORPHA:154
HP:0031704	Abnormal ear physiology	63976	PRDM16	ORPHA:154
HP:0031704	Abnormal ear physiology	63976	PRDM16	ORPHA:1606
HP:0031704	Abnormal ear physiology	7273	TTN	ORPHA:154
HP:0031704	Abnormal ear physiology	10587	TXNRD2	ORPHA:154
HP:0031704	Abnormal ear physiology	9531	BAG3	ORPHA:154
HP:0031704	Abnormal ear physiology	5350	PLN	ORPHA:154
HP:0031704	Abnormal ear physiology	91624	NEXN	ORPHA:154
HP:0031704	Abnormal ear physiology	79717	PPCS	ORPHA:154
HP:0031704	Abnormal ear physiology	5664	PSEN2	ORPHA:154
HP:0031704	Abnormal ear physiology	4624	MYH6	ORPHA:154
HP:0031704	Abnormal ear physiology	9529	BAG5	ORPHA:154
HP:0031704	Abnormal ear physiology	4607	MYBPC3	ORPHA:154
HP:0031704	Abnormal ear physiology	282996	RBM20	ORPHA:154
HP:0031704	Abnormal ear physiology	7137	TNNI3	ORPHA:154
HP:0031704	Abnormal ear physiology	11155	LDB3	ORPHA:154
HP:0031704	Abnormal ear physiology	2274	FHL2	ORPHA:154
HP:0031704	Abnormal ear physiology	6901	TAFAZZIN	ORPHA:154
HP:0031704	Abnormal ear physiology	22845	DOLK	ORPHA:154
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:154
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:500
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:648
HP:0031704	Abnormal ear physiology	1756	DMD	ORPHA:154
HP:0031704	Abnormal ear physiology	57798	GATAD1	ORPHA:154
HP:0031704	Abnormal ear physiology	7134	TNNC1	ORPHA:154
HP:0031704	Abnormal ear physiology	84665	MYPN	ORPHA:154
HP:0031704	Abnormal ear physiology	1674	DES	ORPHA:154
HP:0031704	Abnormal ear physiology	6444	SGCD	ORPHA:154
HP:0031704	Abnormal ear physiology	2218	FKTN	ORPHA:154
HP:0031704	Abnormal ear physiology	8557	TCAP	ORPHA:154
HP:0031704	Abnormal ear physiology	51399	TRAPPC4	OMIM:618741
HP:0031704	Abnormal ear physiology	23019	CNOT1	OMIM:618500
HP:0031704	Abnormal ear physiology	1024	CDK8	OMIM:618748
HP:0031704	Abnormal ear physiology	5238	PGM3	ORPHA:443811
HP:0031704	Abnormal ear physiology	5238	PGM3	OMIM:615816
HP:0031704	Abnormal ear physiology	5165	PDK3	OMIM:300905
HP:0031704	Abnormal ear physiology	5165	PDK3	ORPHA:352675
HP:0031704	Abnormal ear physiology	51	ACOX1	ORPHA:2971
HP:0031704	Abnormal ear physiology	51099	ABHD5	OMIM:275630
HP:0031704	Abnormal ear physiology	51099	ABHD5	ORPHA:98907
HP:0031704	Abnormal ear physiology	4125	MAN2B1	ORPHA:309282
HP:0031704	Abnormal ear physiology	4125	MAN2B1	OMIM:248500
HP:0031704	Abnormal ear physiology	5979	RET	ORPHA:388
HP:0031704	Abnormal ear physiology	5979	RET	ORPHA:99803
HP:0031704	Abnormal ear physiology	2668	GDNF	ORPHA:388
HP:0031704	Abnormal ear physiology	1889	ECE1	ORPHA:388
HP:0031704	Abnormal ear physiology	223117	SEMA3D	ORPHA:388
HP:0031704	Abnormal ear physiology	538	ATP7A	ORPHA:388
HP:0031704	Abnormal ear physiology	10512	SEMA3C	ORPHA:388
HP:0031704	Abnormal ear physiology	2064	ERBB2	ORPHA:388
HP:0031704	Abnormal ear physiology	2064	ERBB2	OMIM:619465
HP:0031704	Abnormal ear physiology	4902	NRTN	ORPHA:388
HP:0031704	Abnormal ear physiology	197131	UBR1	OMIM:243800
HP:0031704	Abnormal ear physiology	197131	UBR1	ORPHA:2315
HP:0031704	Abnormal ear physiology	23498	HAAO	OMIM:617660
HP:0031704	Abnormal ear physiology	83959	SLC4A11	ORPHA:293603
HP:0031704	Abnormal ear physiology	83959	SLC4A11	ORPHA:1490
HP:0031704	Abnormal ear physiology	83959	SLC4A11	OMIM:217400
HP:0031704	Abnormal ear physiology	9578	CDC42BPB	OMIM:619841
HP:0031704	Abnormal ear physiology	396	ARHGDIA	OMIM:615244
HP:0031704	Abnormal ear physiology	1841	DTYMK	OMIM:619847
HP:0031704	Abnormal ear physiology	166378	AFG2A	OMIM:616577
HP:0031704	Abnormal ear physiology	84197	POMK	OMIM:615249
HP:0031704	Abnormal ear physiology	81846	SBF2	OMIM:604563
HP:0031704	Abnormal ear physiology	81846	SBF2	ORPHA:99956
HP:0031704	Abnormal ear physiology	3190	HNRNPK	OMIM:616580
HP:0031704	Abnormal ear physiology	3190	HNRNPK	ORPHA:453504
HP:0031704	Abnormal ear physiology	3190	HNRNPK	ORPHA:352665
HP:0031704	Abnormal ear physiology	317662	FAM149B1	OMIM:618763
HP:0031704	Abnormal ear physiology	64834	ELOVL1	OMIM:618527
HP:0031704	Abnormal ear physiology	79029	AFG2B	OMIM:619615
HP:0031704	Abnormal ear physiology	85465	SELENOI	OMIM:618768
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:215100
HP:0031704	Abnormal ear physiology	5191	PEX7	ORPHA:773
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:614879
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:266500
HP:0031704	Abnormal ear physiology	4571	MT-TP	OMIM:545000
HP:0031704	Abnormal ear physiology	4571	MT-TP	ORPHA:551
HP:0031704	Abnormal ear physiology	4565	MT-TI	OMIM:545000
HP:0031704	Abnormal ear physiology	23327	NEDD4L	OMIM:617201
HP:0031704	Abnormal ear physiology	1428	CRYM	OMIM:616357
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93926
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93924
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93925
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:220386
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93926
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93924
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93925
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:220386
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:478
HP:0031704	Abnormal ear physiology	2253	FGF8	OMIM:612702
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93926
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93924
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93925
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:220386
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93926
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93924
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93925
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:220386
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93926
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93924
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93925
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:220386
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93926
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93924
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93925
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:220386
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93926
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93924
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93925
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:220386
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93926
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93924
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93925
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:220386
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93926
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93924
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93925
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:220386
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93926
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93924
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93925
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:220386
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93926
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93924
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93925
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:220386
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93926
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93924
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:220386
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93926
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93924
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:220386
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93926
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93924
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93925
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:220386
HP:0031704	Abnormal ear physiology	23007	PLCH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	4247	MGAT2	OMIM:212066
HP:0031704	Abnormal ear physiology	1187	CLCNKA	OMIM:613090
HP:0031704	Abnormal ear physiology	23126	POGZ	OMIM:616364
HP:0031704	Abnormal ear physiology	23126	POGZ	ORPHA:468678
HP:0031704	Abnormal ear physiology	5357	PLS1	OMIM:618787
HP:0031704	Abnormal ear physiology	5590	PRKCZ	ORPHA:1606
HP:0031704	Abnormal ear physiology	2563	GABRD	ORPHA:1606
HP:0031704	Abnormal ear physiology	8510	MMP23B	ORPHA:1606
HP:0031704	Abnormal ear physiology	7798	LUZP1	ORPHA:1606
HP:0031704	Abnormal ear physiology	6497	SKI	ORPHA:1606
HP:0031704	Abnormal ear physiology	10630	PDPN	ORPHA:1606
HP:0031704	Abnormal ear physiology	3339	HSPG2	ORPHA:1606
HP:0031704	Abnormal ear physiology	10277	UBE4B	ORPHA:1606
HP:0031704	Abnormal ear physiology	8514	KCNAB2	ORPHA:1606
HP:0031704	Abnormal ear physiology	54897	CASZ1	ORPHA:1606
HP:0031704	Abnormal ear physiology	3766	KCNJ10	ORPHA:199343
HP:0031704	Abnormal ear physiology	3766	KCNJ10	OMIM:600791
HP:0031704	Abnormal ear physiology	3766	KCNJ10	OMIM:612780
HP:0031704	Abnormal ear physiology	3766	KCNJ10	ORPHA:705
HP:0031704	Abnormal ear physiology	124590	USH1G	OMIM:606943
HP:0031704	Abnormal ear physiology	124590	USH1G	ORPHA:231169
HP:0031704	Abnormal ear physiology	3773	KCNJ16	OMIM:619406
HP:0031704	Abnormal ear physiology	1758	DMP1	ORPHA:289176
HP:0031704	Abnormal ear physiology	1758	DMP1	OMIM:241520
HP:0031704	Abnormal ear physiology	125988	MICOS13	OMIM:618329
HP:0031704	Abnormal ear physiology	84131	CEP78	OMIM:617236
HP:0031704	Abnormal ear physiology	84131	CEP78	ORPHA:231183
HP:0031704	Abnormal ear physiology	25836	NIPBL	OMIM:122470
HP:0031704	Abnormal ear physiology	25836	NIPBL	ORPHA:199
HP:0031704	Abnormal ear physiology	25970	SH2B1	ORPHA:261197
HP:0031704	Abnormal ear physiology	55151	TMEM38B	OMIM:615066
HP:0031704	Abnormal ear physiology	27429	HTRA2	OMIM:617248
HP:0031704	Abnormal ear physiology	4001	LMNB1	ORPHA:99027
HP:0031704	Abnormal ear physiology	389827	MYMK	OMIM:254940
HP:0031704	Abnormal ear physiology	64132	XYLT2	OMIM:605822
HP:0031704	Abnormal ear physiology	4549	MT-RNR1	ORPHA:551
HP:0031704	Abnormal ear physiology	4564	MT-TH	ORPHA:551
HP:0031704	Abnormal ear physiology	4564	MT-TH	ORPHA:550
HP:0031704	Abnormal ear physiology	9361	LONP1	OMIM:600373
HP:0031704	Abnormal ear physiology	9361	LONP1	ORPHA:1458
HP:0031704	Abnormal ear physiology	4538	MT-ND4	ORPHA:550
HP:0031704	Abnormal ear physiology	4538	MT-ND4	ORPHA:255210
HP:0031704	Abnormal ear physiology	92840	REEP6	ORPHA:791
HP:0031704	Abnormal ear physiology	6094	ROM1	ORPHA:791
HP:0031704	Abnormal ear physiology	6017	RLBP1	ORPHA:791
HP:0031704	Abnormal ear physiology	7401	CLRN1	ORPHA:791
HP:0031704	Abnormal ear physiology	7401	CLRN1	OMIM:276902
HP:0031704	Abnormal ear physiology	7401	CLRN1	ORPHA:231183
HP:0031704	Abnormal ear physiology	24	ABCA4	ORPHA:791
HP:0031704	Abnormal ear physiology	130557	ZNF513	ORPHA:791
HP:0031704	Abnormal ear physiology	92211	CDHR1	ORPHA:791
HP:0031704	Abnormal ear physiology	23568	ARL2BP	ORPHA:791
HP:0031704	Abnormal ear physiology	54806	AHI1	ORPHA:791
HP:0031704	Abnormal ear physiology	6101	RP1	ORPHA:791
HP:0031704	Abnormal ear physiology	3419	IDH3A	ORPHA:791
HP:0031704	Abnormal ear physiology	4751	NEK2	ORPHA:791
HP:0031704	Abnormal ear physiology	346007	EYS	ORPHA:791
HP:0031704	Abnormal ear physiology	8100	IFT88	ORPHA:791
HP:0031704	Abnormal ear physiology	23020	SNRNP200	ORPHA:791
HP:0031704	Abnormal ear physiology	762	CA4	ORPHA:791
HP:0031704	Abnormal ear physiology	196	AHR	ORPHA:791
HP:0031704	Abnormal ear physiology	5148	PDE6G	ORPHA:791
HP:0031704	Abnormal ear physiology	26121	PRPF31	ORPHA:791
HP:0031704	Abnormal ear physiology	4117	MAK	ORPHA:791
HP:0031704	Abnormal ear physiology	25794	FSCN2	ORPHA:791
HP:0031704	Abnormal ear physiology	375298	CERKL	ORPHA:791
HP:0031704	Abnormal ear physiology	3420	IDH3B	ORPHA:791
HP:0031704	Abnormal ear physiology	57670	KIAA1549	ORPHA:791
HP:0031704	Abnormal ear physiology	7275	TUB	ORPHA:791
HP:0031704	Abnormal ear physiology	24148	PRPF6	ORPHA:791
HP:0031704	Abnormal ear physiology	10461	MERTK	ORPHA:791
HP:0031704	Abnormal ear physiology	57709	SLC7A14	ORPHA:791
HP:0031704	Abnormal ear physiology	768206	PRCD	ORPHA:791
HP:0031704	Abnormal ear physiology	7399	USH2A	ORPHA:791
HP:0031704	Abnormal ear physiology	7399	USH2A	ORPHA:231178
HP:0031704	Abnormal ear physiology	23370	ARHGEF18	ORPHA:791
HP:0031704	Abnormal ear physiology	5949	RBP3	ORPHA:791
HP:0031704	Abnormal ear physiology	6010	RHO	ORPHA:791
HP:0031704	Abnormal ear physiology	6100	RP9	ORPHA:791
HP:0031704	Abnormal ear physiology	10002	NR2E3	ORPHA:791
HP:0031704	Abnormal ear physiology	84140	FAM161A	ORPHA:791
HP:0031704	Abnormal ear physiology	55624	POMGNT1	ORPHA:791
HP:0031704	Abnormal ear physiology	403	ARL3	ORPHA:791
HP:0031704	Abnormal ear physiology	5145	PDE6A	ORPHA:791
HP:0031704	Abnormal ear physiology	10210	TOPORS	ORPHA:791
HP:0031704	Abnormal ear physiology	8842	PROM1	ORPHA:791
HP:0031704	Abnormal ear physiology	9128	PRPF4	ORPHA:791
HP:0031704	Abnormal ear physiology	50939	IMPG2	ORPHA:791
HP:0031704	Abnormal ear physiology	2979	GUCA1B	ORPHA:791
HP:0031704	Abnormal ear physiology	1259	CNGA1	ORPHA:791
HP:0031704	Abnormal ear physiology	1258	CNGB1	ORPHA:791
HP:0031704	Abnormal ear physiology	60509	AGBL5	ORPHA:791
HP:0031704	Abnormal ear physiology	5961	PRPH2	ORPHA:791
HP:0031704	Abnormal ear physiology	388939	PCARE	ORPHA:791
HP:0031704	Abnormal ear physiology	7439	BEST1	ORPHA:791
HP:0031704	Abnormal ear physiology	9785	DHX38	ORPHA:791
HP:0031704	Abnormal ear physiology	5995	RGR	ORPHA:791
HP:0031704	Abnormal ear physiology	9129	PRPF3	ORPHA:791
HP:0031704	Abnormal ear physiology	55975	KLHL7	ORPHA:791
HP:0031704	Abnormal ear physiology	3617	IMPG1	ORPHA:791
HP:0031704	Abnormal ear physiology	94137	RP1L1	ORPHA:791
HP:0031704	Abnormal ear physiology	5158	PDE6B	ORPHA:791
HP:0031704	Abnormal ear physiology	6102	RP2	ORPHA:791
HP:0031704	Abnormal ear physiology	55857	KIZ	ORPHA:791
HP:0031704	Abnormal ear physiology	64218	SEMA4A	ORPHA:791
HP:0031704	Abnormal ear physiology	4901	NRL	ORPHA:791
HP:0031704	Abnormal ear physiology	10594	PRPF8	ORPHA:791
HP:0031704	Abnormal ear physiology	6295	SAG	ORPHA:791
HP:0031704	Abnormal ear physiology	79947	DHDDS	ORPHA:791
HP:0031704	Abnormal ear physiology	79947	DHDDS	OMIM:613861
HP:0031704	Abnormal ear physiology	54517	PUS7	OMIM:618342
HP:0031704	Abnormal ear physiology	5551	PRF1	ORPHA:540
HP:0031704	Abnormal ear physiology	8676	STX11	ORPHA:540
HP:0031704	Abnormal ear physiology	201294	UNC13D	ORPHA:540
HP:0031704	Abnormal ear physiology	57104	PNPLA2	ORPHA:565612
HP:0031704	Abnormal ear physiology	57104	PNPLA2	ORPHA:98908
HP:0031704	Abnormal ear physiology	57104	PNPLA2	OMIM:610717
HP:0031704	Abnormal ear physiology	55182	RNF220	OMIM:619688
HP:0031704	Abnormal ear physiology	79158	GNPTAB	ORPHA:576
HP:0031704	Abnormal ear physiology	7007	TECTA	OMIM:603629
HP:0031704	Abnormal ear physiology	7007	TECTA	OMIM:601543
HP:0031704	Abnormal ear physiology	537	ATP6AP1	OMIM:300972
HP:0031704	Abnormal ear physiology	7922	SLC39A7	OMIM:619693
HP:0031704	Abnormal ear physiology	3376	IARS1	ORPHA:541423
HP:0031704	Abnormal ear physiology	3376	IARS1	OMIM:617093
HP:0031704	Abnormal ear physiology	4647	MYO7A	OMIM:276900
HP:0031704	Abnormal ear physiology	4647	MYO7A	OMIM:600060
HP:0031704	Abnormal ear physiology	4647	MYO7A	ORPHA:231178
HP:0031704	Abnormal ear physiology	4647	MYO7A	ORPHA:231169
HP:0031704	Abnormal ear physiology	10083	USH1C	OMIM:276900
HP:0031704	Abnormal ear physiology	10083	USH1C	OMIM:602092
HP:0031704	Abnormal ear physiology	10083	USH1C	ORPHA:231169
HP:0031704	Abnormal ear physiology	5611	DNAJC3	OMIM:616192
HP:0031704	Abnormal ear physiology	7809	BSND	OMIM:602522
HP:0031704	Abnormal ear physiology	11342	RNF13	OMIM:618379
HP:0031704	Abnormal ear physiology	11342	RNF13	ORPHA:544503
HP:0031704	Abnormal ear physiology	9294	S1PR2	OMIM:610419
HP:0031704	Abnormal ear physiology	5137	PDE1C	OMIM:618140
HP:0031704	Abnormal ear physiology	57187	THOC2	OMIM:300957
HP:0031704	Abnormal ear physiology	84196	USP48	OMIM:620227
HP:0031704	Abnormal ear physiology	493856	CISD2	OMIM:604928
HP:0031704	Abnormal ear physiology	493856	CISD2	ORPHA:3463
HP:0031704	Abnormal ear physiology	9373	PLAA	ORPHA:521426
HP:0031704	Abnormal ear physiology	100127206	MINAR2	OMIM:620238
HP:0031704	Abnormal ear physiology	91662	NLRP12	OMIM:611762
HP:0031704	Abnormal ear physiology	55717	WDR11	OMIM:620237
HP:0031704	Abnormal ear physiology	55717	WDR11	ORPHA:478
HP:0031704	Abnormal ear physiology	93587	TRMT10A	ORPHA:391408
HP:0031704	Abnormal ear physiology	7169	TPM2	OMIM:108120
HP:0031704	Abnormal ear physiology	2299	FOXI1	OMIM:600791
HP:0031704	Abnormal ear physiology	2299	FOXI1	ORPHA:705
HP:0031704	Abnormal ear physiology	5172	SLC26A4	OMIM:600791
HP:0031704	Abnormal ear physiology	5172	SLC26A4	ORPHA:705
HP:0031704	Abnormal ear physiology	5264	PHYH	ORPHA:773
HP:0031704	Abnormal ear physiology	5264	PHYH	OMIM:266500
HP:0031704	Abnormal ear physiology	5295	PIK3R1	ORPHA:3163
HP:0031704	Abnormal ear physiology	5295	PIK3R1	OMIM:269880
HP:0031704	Abnormal ear physiology	2629	GBA1	ORPHA:2072
HP:0031704	Abnormal ear physiology	54936	ADPRS	OMIM:618170
HP:0031704	Abnormal ear physiology	4860	PNP	ORPHA:760
HP:0031704	Abnormal ear physiology	375056	MIA3	OMIM:619269
HP:0031704	Abnormal ear physiology	8022	LHX3	ORPHA:231720
HP:0031704	Abnormal ear physiology	8022	LHX3	ORPHA:226307
HP:0031704	Abnormal ear physiology	8022	LHX3	OMIM:221750
HP:0031704	Abnormal ear physiology	6658	SOX3	ORPHA:3157
HP:0031704	Abnormal ear physiology	9915	ARNT2	ORPHA:3157
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:3157
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:226307
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:478
HP:0031704	Abnormal ear physiology	5015	OTX2	ORPHA:3157
HP:0031704	Abnormal ear physiology	7355	SLC35A2	ORPHA:356961
HP:0031704	Abnormal ear physiology	283310	OTOGL	OMIM:614944
HP:0031704	Abnormal ear physiology	340990	OTOG	OMIM:614945
HP:0031704	Abnormal ear physiology	79581	SLC52A2	OMIM:614707
HP:0031704	Abnormal ear physiology	8200	GDF5	ORPHA:3250
HP:0031704	Abnormal ear physiology	146183	OTOA	OMIM:607039
HP:0031704	Abnormal ear physiology	613	BCR	ORPHA:261330
HP:0031704	Abnormal ear physiology	1399	CRKL	ORPHA:261330
HP:0031704	Abnormal ear physiology	5594	MAPK1	ORPHA:261330
HP:0031704	Abnormal ear physiology	63916	ELMO2	ORPHA:3019
HP:0031704	Abnormal ear physiology	375611	SLC26A5	OMIM:613865
HP:0031704	Abnormal ear physiology	429	ASCL1	ORPHA:99803
HP:0031704	Abnormal ear physiology	8929	PHOX2B	ORPHA:99803
HP:0031704	Abnormal ear physiology	525	ATP6V1B1	OMIM:267300
HP:0031704	Abnormal ear physiology	645104	CLRN2	OMIM:619174
HP:0031704	Abnormal ear physiology	2483	FRG1	OMIM:158900
HP:0031704	Abnormal ear physiology	2483	FRG1	ORPHA:269
HP:0031704	Abnormal ear physiology	29967	LRP12	OMIM:164310
HP:0031704	Abnormal ear physiology	546	ATRX	ORPHA:847
HP:0031704	Abnormal ear physiology	546	ATRX	OMIM:309580
HP:0031704	Abnormal ear physiology	546	ATRX	OMIM:301040
HP:0031704	Abnormal ear physiology	54675	CRLS1	OMIM:620167
HP:0031704	Abnormal ear physiology	57531	HACE1	ORPHA:464282
HP:0031704	Abnormal ear physiology	57531	HACE1	OMIM:616756
HP:0031704	Abnormal ear physiology	9839	ZEB2	ORPHA:261552
HP:0031704	Abnormal ear physiology	9839	ZEB2	ORPHA:261537
HP:0031704	Abnormal ear physiology	7156	TOP3A	OMIM:618098
HP:0031704	Abnormal ear physiology	6999	TDO2	OMIM:600627
HP:0031704	Abnormal ear physiology	1954	MEGF8	OMIM:614976
HP:0031704	Abnormal ear physiology	1729	DIAPH1	OMIM:124900
HP:0031704	Abnormal ear physiology	84300	UQCC2	OMIM:615824
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	ORPHA:3473
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	OMIM:124480
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	OMIM:616455
HP:0031704	Abnormal ear physiology	3782	KCNN3	ORPHA:3473
HP:0031704	Abnormal ear physiology	53834	FGFRL1	OMIM:194190
HP:0031704	Abnormal ear physiology	84947	SERAC1	OMIM:614739
HP:0031704	Abnormal ear physiology	54496	PRMT7	ORPHA:464288
HP:0031704	Abnormal ear physiology	6234	RPS28	OMIM:606164
HP:0031704	Abnormal ear physiology	9653	HS2ST1	OMIM:619194
HP:0031704	Abnormal ear physiology	5626	PROP1	ORPHA:226307
HP:0031704	Abnormal ear physiology	89884	LHX4	ORPHA:226307
HP:0031704	Abnormal ear physiology	5449	POU1F1	ORPHA:226307
HP:0031704	Abnormal ear physiology	10908	PNPLA6	ORPHA:2377
HP:0031704	Abnormal ear physiology	3211	HOXB1	OMIM:614744
HP:0031704	Abnormal ear physiology	2122	MECOM	ORPHA:71289
HP:0031704	Abnormal ear physiology	2122	MECOM	OMIM:616738
HP:0031704	Abnormal ear physiology	3207	HOXA11	ORPHA:71289
HP:0031704	Abnormal ear physiology	3207	HOXA11	OMIM:605432
HP:0031704	Abnormal ear physiology	2624	GATA2	ORPHA:3226
HP:0031704	Abnormal ear physiology	90665	TBL1Y	OMIM:400047
HP:0031704	Abnormal ear physiology	2103	ESRRB	OMIM:608565
HP:0031704	Abnormal ear physiology	427	ASAH1	ORPHA:2590
HP:0031704	Abnormal ear physiology	286676	ILDR1	OMIM:609646
HP:0031704	Abnormal ear physiology	9455	HOMER2	OMIM:616707
HP:0031704	Abnormal ear physiology	4233	MET	OMIM:616705
HP:0031704	Abnormal ear physiology	4556	MT-TE	ORPHA:2596
HP:0031704	Abnormal ear physiology	4556	MT-TE	ORPHA:225
HP:0031704	Abnormal ear physiology	147372	CCBE1	OMIM:235510
HP:0031704	Abnormal ear physiology	84188	FAR1	ORPHA:447753
HP:0031704	Abnormal ear physiology	5832	ALDH18A1	ORPHA:447753
HP:0031704	Abnormal ear physiology	355	FAS	ORPHA:3437
HP:0031704	Abnormal ear physiology	57165	GJC2	OMIM:613206
HP:0031704	Abnormal ear physiology	57165	GJC2	ORPHA:320401
HP:0031704	Abnormal ear physiology	57724	EPG5	ORPHA:1493
HP:0031704	Abnormal ear physiology	57724	EPG5	OMIM:242840
HP:0031704	Abnormal ear physiology	3371	TNC	OMIM:615629
HP:0031704	Abnormal ear physiology	1288	COL4A6	ORPHA:1018
HP:0031704	Abnormal ear physiology	1287	COL4A5	ORPHA:1018
HP:0031704	Abnormal ear physiology	1287	COL4A5	OMIM:301050
HP:0031704	Abnormal ear physiology	91949	COG7	OMIM:608779
HP:0031704	Abnormal ear physiology	124997	WDR81	OMIM:610185
HP:0031704	Abnormal ear physiology	132	ADK	OMIM:614300
HP:0031704	Abnormal ear physiology	79848	CSPP1	OMIM:615636
HP:0031704	Abnormal ear physiology	8943	AP3D1	ORPHA:1000
HP:0031704	Abnormal ear physiology	8763	CD164	OMIM:616969
HP:0031704	Abnormal ear physiology	1776	DNASE1L3	ORPHA:36412
HP:0031704	Abnormal ear physiology	4010	LMX1B	OMIM:161200
HP:0031704	Abnormal ear physiology	7317	UBA1	OMIM:301054
HP:0031704	Abnormal ear physiology	54931	TRMT10C	OMIM:616974
HP:0031704	Abnormal ear physiology	2782	GNB1	OMIM:616973
HP:0031704	Abnormal ear physiology	4893	NRAS	OMIM:613224
HP:0031704	Abnormal ear physiology	4893	NRAS	ORPHA:648
HP:0031704	Abnormal ear physiology	169792	GLIS3	OMIM:610199
HP:0031704	Abnormal ear physiology	50	ACO2	OMIM:614559
HP:0031704	Abnormal ear physiology	27235	COQ2	OMIM:607426
HP:0031704	Abnormal ear physiology	10560	SLC19A2	OMIM:249270
HP:0031704	Abnormal ear physiology	10560	SLC19A2	ORPHA:49827
HP:0031704	Abnormal ear physiology	60	ACTB	ORPHA:79107
HP:0031704	Abnormal ear physiology	60	ACTB	OMIM:243310
HP:0031704	Abnormal ear physiology	60	ACTB	OMIM:607371
HP:0031704	Abnormal ear physiology	8985	PLOD3	OMIM:612394
HP:0031704	Abnormal ear physiology	4854	NOTCH3	ORPHA:2789
HP:0031704	Abnormal ear physiology	23312	DMXL2	OMIM:617605
HP:0031704	Abnormal ear physiology	23312	DMXL2	OMIM:618663
HP:0031704	Abnormal ear physiology	23476	BRD4	ORPHA:199
HP:0031704	Abnormal ear physiology	8243	SMC1A	ORPHA:199
HP:0031704	Abnormal ear physiology	8243	SMC1A	ORPHA:220386
HP:0031704	Abnormal ear physiology	5885	RAD21	ORPHA:199
HP:0031704	Abnormal ear physiology	157680	VPS13B	ORPHA:193
HP:0031704	Abnormal ear physiology	1213	CLTC	OMIM:617854
HP:0031704	Abnormal ear physiology	51520	LARS1	OMIM:615438
HP:0031704	Abnormal ear physiology	1890	TYMP	OMIM:603041
HP:0031704	Abnormal ear physiology	1890	TYMP	ORPHA:298
HP:0031704	Abnormal ear physiology	60528	ELAC2	OMIM:615440
HP:0031704	Abnormal ear physiology	28957	MRPS28	OMIM:618958
HP:0031704	Abnormal ear physiology	60482	SLC5A7	ORPHA:98914
HP:0031704	Abnormal ear physiology	4649	MYO9A	ORPHA:98914
HP:0031704	Abnormal ear physiology	1305	COL13A1	ORPHA:98914
HP:0031704	Abnormal ear physiology	1103	CHAT	ORPHA:98914
HP:0031704	Abnormal ear physiology	6576	SLC25A1	ORPHA:98914
HP:0031704	Abnormal ear physiology	6843	VAMP1	ORPHA:98914
HP:0031704	Abnormal ear physiology	375790	AGRN	ORPHA:98914
HP:0031704	Abnormal ear physiology	6572	SLC18A3	ORPHA:98914
HP:0031704	Abnormal ear physiology	6616	SNAP25	ORPHA:98914
HP:0031704	Abnormal ear physiology	7518	XRCC4	OMIM:616541
HP:0031704	Abnormal ear physiology	8192	CLPP	OMIM:614129
HP:0031704	Abnormal ear physiology	5879	RAC1	ORPHA:500159
HP:0031704	Abnormal ear physiology	5879	RAC1	OMIM:617751
HP:0031704	Abnormal ear physiology	23250	ATP11A	OMIM:619810
HP:0031704	Abnormal ear physiology	8777	MPDZ	OMIM:615219
HP:0031704	Abnormal ear physiology	55553	SOX6	OMIM:618971
HP:0031704	Abnormal ear physiology	64221	ROBO3	ORPHA:2744
HP:0031704	Abnormal ear physiology	1630	DCC	ORPHA:2744
HP:0031704	Abnormal ear physiology	1630	DCC	ORPHA:478
HP:0031704	Abnormal ear physiology	16	AARS1	OMIM:613287
HP:0031704	Abnormal ear physiology	1297	COL9A1	OMIM:614134
HP:0031704	Abnormal ear physiology	1297	COL9A1	ORPHA:250984
HP:0031704	Abnormal ear physiology	8449	DHX16	OMIM:618733
HP:0031704	Abnormal ear physiology	9381	OTOF	OMIM:601071
HP:0031704	Abnormal ear physiology	64699	TMPRSS3	OMIM:601072
HP:0031704	Abnormal ear physiology	51103	NDUFAF1	ORPHA:2609
HP:0031704	Abnormal ear physiology	51300	TIMMDC1	ORPHA:2609
HP:0031704	Abnormal ear physiology	51300	TIMMDC1	OMIM:618251
HP:0031704	Abnormal ear physiology	4716	NDUFB10	ORPHA:2609
HP:0031704	Abnormal ear physiology	284184	NDUFAF8	ORPHA:2609
HP:0031704	Abnormal ear physiology	55863	TMEM126B	ORPHA:2609
HP:0031704	Abnormal ear physiology	4537	MT-ND3	ORPHA:2609
HP:0031704	Abnormal ear physiology	4537	MT-ND3	ORPHA:255210
HP:0031704	Abnormal ear physiology	4726	NDUFS6	ORPHA:2609
HP:0031704	Abnormal ear physiology	126328	NDUFA11	ORPHA:2609
HP:0031704	Abnormal ear physiology	4709	NDUFB3	ORPHA:2609
HP:0031704	Abnormal ear physiology	80224	NUBPL	ORPHA:2609
HP:0031704	Abnormal ear physiology	4700	NDUFA6	ORPHA:2609
HP:0031704	Abnormal ear physiology	4536	MT-ND2	ORPHA:2609
HP:0031704	Abnormal ear physiology	4536	MT-ND2	ORPHA:255210
HP:0031704	Abnormal ear physiology	4715	NDUFB9	ORPHA:2609
HP:0031704	Abnormal ear physiology	29925	GMPPB	OMIM:615350
HP:0031704	Abnormal ear physiology	56172	ANKH	ORPHA:1522
HP:0031704	Abnormal ear physiology	1947	EFNB1	ORPHA:1520
HP:0031704	Abnormal ear physiology	22947	DUX4L1	ORPHA:269
HP:0031704	Abnormal ear physiology	1789	DNMT3B	ORPHA:269
HP:0031704	Abnormal ear physiology	100288687	DUX4	ORPHA:269
HP:0031704	Abnormal ear physiology	267010	RNU12	OMIM:603116
HP:0031704	Abnormal ear physiology	128486	FITM2	OMIM:618635
HP:0031704	Abnormal ear physiology	3980	LIG3	ORPHA:298
HP:0031704	Abnormal ear physiology	80153	EDC3	OMIM:616460
HP:0031704	Abnormal ear physiology	1600	DAB1	ORPHA:363710
HP:0031704	Abnormal ear physiology	55870	ASH1L	OMIM:617796
HP:0031704	Abnormal ear physiology	1298	COL9A2	OMIM:614284
HP:0031704	Abnormal ear physiology	1298	COL9A2	ORPHA:250984
HP:0031704	Abnormal ear physiology	9692	PRORP	OMIM:619737
HP:0031704	Abnormal ear physiology	2200	FBN1	ORPHA:2833
HP:0031704	Abnormal ear physiology	10381	TUBB3	ORPHA:300570
HP:0031704	Abnormal ear physiology	23761	PISD	OMIM:618889
HP:0031704	Abnormal ear physiology	83480	PUS3	ORPHA:488627
HP:0031704	Abnormal ear physiology	22884	WDR37	OMIM:618652
HP:0031704	Abnormal ear physiology	388551	CEACAM16	OMIM:618410
HP:0031704	Abnormal ear physiology	388551	CEACAM16	OMIM:614614
HP:0031704	Abnormal ear physiology	84173	ELMOD3	OMIM:619500
HP:0031704	Abnormal ear physiology	5424	POLD1	OMIM:615381
HP:0031704	Abnormal ear physiology	26284	ERAL1	OMIM:617565
HP:0031704	Abnormal ear physiology	55012	PPP2R3C	OMIM:618419
HP:0031704	Abnormal ear physiology	93627	TBCK	ORPHA:488632
HP:0031704	Abnormal ear physiology	8642	DCHS1	OMIM:601390
HP:0031704	Abnormal ear physiology	23262	PPIP5K2	OMIM:618422
HP:0031704	Abnormal ear physiology	1182	CLCN3	OMIM:619512
HP:0031704	Abnormal ear physiology	85301	COL27A1	OMIM:615155
HP:0031704	Abnormal ear physiology	8879	SGPL1	OMIM:617575
HP:0031704	Abnormal ear physiology	9453	GGPS1	OMIM:619518
HP:0031704	Abnormal ear physiology	59335	PRDM12	OMIM:616488
HP:0031704	Abnormal ear physiology	9786	KIAA0586	OMIM:616490
HP:0031704	Abnormal ear physiology	4849	CNOT3	OMIM:618672
HP:0031704	Abnormal ear physiology	9158	FIBP	OMIM:617107
HP:0031704	Abnormal ear physiology	9158	FIBP	ORPHA:500095
HP:0031704	Abnormal ear physiology	7841	MOGS	ORPHA:79330
HP:0031704	Abnormal ear physiology	7841	MOGS	OMIM:606056
HP:0031704	Abnormal ear physiology	51651	PTRH2	OMIM:616263
HP:0031704	Abnormal ear physiology	51651	PTRH2	ORPHA:456312
HP:0031704	Abnormal ear physiology	85365	ALG2	OMIM:607906
HP:0031704	Abnormal ear physiology	79977	GRHL2	OMIM:616029
HP:0031704	Abnormal ear physiology	79977	GRHL2	OMIM:608641
HP:0031704	Abnormal ear physiology	79087	ALG12	ORPHA:79324
HP:0031704	Abnormal ear physiology	79087	ALG12	OMIM:607143
HP:0031704	Abnormal ear physiology	10750	GRAP	OMIM:618456
HP:0031704	Abnormal ear physiology	124976	SPNS2	OMIM:618457
HP:0031704	Abnormal ear physiology	10371	SEMA3A	ORPHA:478
HP:0031704	Abnormal ear physiology	79625	NDNF	ORPHA:478
HP:0031704	Abnormal ear physiology	389549	FEZF1	ORPHA:478
HP:0031704	Abnormal ear physiology	3730	ANOS1	ORPHA:478
HP:0031704	Abnormal ear physiology	285025	CCDC141	ORPHA:478
HP:0031704	Abnormal ear physiology	60675	PROK2	ORPHA:478
HP:0031704	Abnormal ear physiology	6870	TACR3	ORPHA:478
HP:0031704	Abnormal ear physiology	9394	HS6ST1	ORPHA:478
HP:0031704	Abnormal ear physiology	8822	FGF17	ORPHA:478
HP:0031704	Abnormal ear physiology	10456	HAX1	OMIM:610738
HP:0031704	Abnormal ear physiology	53405	CLIC5	OMIM:616042
HP:0031704	Abnormal ear physiology	54892	NCAPG2	OMIM:618460
HP:0031704	Abnormal ear physiology	6548	SLC9A1	OMIM:616291
HP:0031704	Abnormal ear physiology	29998	BICRA	OMIM:619325
HP:0031704	Abnormal ear physiology	9342	SNAP29	ORPHA:66631
HP:0031704	Abnormal ear physiology	9342	SNAP29	OMIM:609528
HP:0031704	Abnormal ear physiology	162514	TRPV3	ORPHA:659
HP:0031704	Abnormal ear physiology	64065	PERP	ORPHA:659
HP:0031704	Abnormal ear physiology	977	CD151	OMIM:609057
HP:0031704	Abnormal ear physiology	79068	FTO	OMIM:612938
HP:0031704	Abnormal ear physiology	10059	DNM1L	ORPHA:98673
HP:0031704	Abnormal ear physiology	124842	TMEM132E	OMIM:618481
HP:0031704	Abnormal ear physiology	57551	TAOK1	OMIM:619575
HP:0031704	Abnormal ear physiology	161497	STRC	ORPHA:94064
HP:0031704	Abnormal ear physiology	161497	STRC	OMIM:603720
HP:0031704	Abnormal ear physiology	117155	CATSPER2	ORPHA:94064
HP:0031704	Abnormal ear physiology	55814	BDP1	OMIM:618257
HP:0031704	Abnormal ear physiology	8635	RNASET2	OMIM:612951
HP:0031704	Abnormal ear physiology	4990	SIX6	OMIM:206900
HP:0031704	Abnormal ear physiology	9791	PTDSS1	OMIM:151050
HP:0031704	Abnormal ear physiology	51095	TRNT1	OMIM:616084
HP:0031704	Abnormal ear physiology	4629	MYH11	OMIM:619351
HP:0031704	Abnormal ear physiology	60684	TRAPPC11	ORPHA:869
HP:0031704	Abnormal ear physiology	8086	AAAS	ORPHA:869
HP:0031704	Abnormal ear physiology	3198	HOXA1	OMIM:601536
HP:0031704	Abnormal ear physiology	51715	RAB23	OMIM:201000
HP:0031704	Abnormal ear physiology	55755	CDK5RAP2	OMIM:604804
HP:0031704	Abnormal ear physiology	9759	HDAC4	OMIM:600430
HP:0031704	Abnormal ear physiology	22800	RRAS2	ORPHA:648
HP:0031704	Abnormal ear physiology	867	CBL	ORPHA:648
HP:0031704	Abnormal ear physiology	8216	LZTR1	ORPHA:648
HP:0031704	Abnormal ear physiology	6016	RIT1	ORPHA:648
HP:0031704	Abnormal ear physiology	6237	RRAS	ORPHA:648
HP:0031704	Abnormal ear physiology	22808	MRAS	ORPHA:648
HP:0031704	Abnormal ear physiology	200734	SPRED2	ORPHA:648
HP:0031704	Abnormal ear physiology	6655	SOS2	ORPHA:648
HP:0031704	Abnormal ear physiology	5922	RASA2	ORPHA:648
HP:0031704	Abnormal ear physiology	23438	HARS2	OMIM:614926
HP:0031704	Abnormal ear physiology	84233	TMEM126A	OMIM:612989
HP:0031704	Abnormal ear physiology	8665	EIF3F	OMIM:618295
HP:0031704	Abnormal ear physiology	27183	VPS4A	OMIM:619273
HP:0031704	Abnormal ear physiology	84189	SLITRK6	OMIM:221200
HP:0031704	Abnormal ear physiology	4570	MT-TN	OMIM:220110
HP:0031704	Abnormal ear physiology	59341	TRPV4	OMIM:606071
HP:0031704	Abnormal ear physiology	494513	PJVK	OMIM:610220
HP:0031704	Abnormal ear physiology	400916	CHCHD10	OMIM:615911
HP:0031704	Abnormal ear physiology	95	ACY1	ORPHA:137754
HP:0031704	Abnormal ear physiology	95	ACY1	OMIM:609924
HP:0031704	Abnormal ear physiology	10992	SF3B2	OMIM:164210
HP:0031704	Abnormal ear physiology	1299	COL9A3	OMIM:620022
HP:0031704	Abnormal ear physiology	1299	COL9A3	ORPHA:250984
HP:0031704	Abnormal ear physiology	162	AP1B1	OMIM:242150
HP:0031704	Abnormal ear physiology	1352	COX10	OMIM:619046
HP:0031704	Abnormal ear physiology	7080	NKX2-1	ORPHA:209905
HP:0031704	Abnormal ear physiology	26090	ABHD12	OMIM:612674
HP:0031704	Abnormal ear physiology	5978	REST	OMIM:612431
HP:0031704	Abnormal ear physiology	1174	AP1S1	OMIM:609313
HP:0031704	Abnormal ear physiology	4953	ODC1	OMIM:619075
HP:0031704	Abnormal ear physiology	4953	ODC1	ORPHA:544488
HP:0031704	Abnormal ear physiology	5251	PHEX	ORPHA:89936
HP:0031704	Abnormal ear physiology	222662	LHFPL5	OMIM:610265
HP:0031704	Abnormal ear physiology	7461	CLIP2	ORPHA:904
HP:0031704	Abnormal ear physiology	84277	DNAJC30	ORPHA:904
HP:0031704	Abnormal ear physiology	8468	FKBP6	ORPHA:904
HP:0031704	Abnormal ear physiology	5982	RFC2	ORPHA:904
HP:0031704	Abnormal ear physiology	2969	GTF2I	ORPHA:904
HP:0031704	Abnormal ear physiology	3984	LIMK1	ORPHA:904
HP:0031704	Abnormal ear physiology	9569	GTF2IRD1	ORPHA:904
HP:0031704	Abnormal ear physiology	155382	VPS37D	ORPHA:904
HP:0031704	Abnormal ear physiology	155368	METTL27	ORPHA:904
HP:0031704	Abnormal ear physiology	114049	BUD23	ORPHA:904
HP:0031704	Abnormal ear physiology	7458	EIF4H	ORPHA:904
HP:0031704	Abnormal ear physiology	84163	GTF2IRD2	ORPHA:904
HP:0031704	Abnormal ear physiology	9275	BCL7B	ORPHA:904
HP:0031704	Abnormal ear physiology	26608	TBL2	ORPHA:904
HP:0031704	Abnormal ear physiology	653361	NCF1	ORPHA:904
HP:0031704	Abnormal ear physiology	135886	TMEM270	ORPHA:904
HP:0031704	Abnormal ear physiology	51085	MLXIPL	ORPHA:904
HP:0031704	Abnormal ear physiology	51085	MLXIPL	OMIM:194050
HP:0031704	Abnormal ear physiology	9031	BAZ1B	ORPHA:904
HP:0031704	Abnormal ear physiology	2006	ELN	ORPHA:904
HP:0031704	Abnormal ear physiology	2006	ELN	OMIM:194050
HP:0031704	Abnormal ear physiology	1493	CTLA4	ORPHA:900
HP:0031704	Abnormal ear physiology	3115	HLA-DPB1	ORPHA:900
HP:0031704	Abnormal ear physiology	5657	PRTN3	ORPHA:900
HP:0031704	Abnormal ear physiology	3113	HLA-DPA1	ORPHA:900
HP:0031704	Abnormal ear physiology	5159	PDGFRB	OMIM:601812
HP:0031704	Abnormal ear physiology	5591	PRKDC	OMIM:615966
HP:0031704	Abnormal ear physiology	10430	TMEM147	OMIM:620075
HP:0031704	Abnormal ear physiology	9080	CLDN9	OMIM:619093
HP:0031704	Abnormal ear physiology	9939	RBM8A	ORPHA:3320
HP:0031704	Abnormal ear physiology	92154	MTSS2	OMIM:620086
HP:0031704	Abnormal ear physiology	51004	COQ6	OMIM:614650
HP:0031704	Abnormal ear physiology	2702	GJA5	OMIM:612474
HP:0031704	Abnormal ear physiology	2703	GJA8	OMIM:612474
HP:0031704	Abnormal ear physiology	170302	ARX	OMIM:300419
HP:0031704	Abnormal ear physiology	84695	LOXL3	ORPHA:250984
HP:0031704	Abnormal ear physiology	9420	CYP7B1	ORPHA:100986
HP:0031704	Abnormal ear physiology	9420	CYP7B1	OMIM:270800
HP:0031704	Abnormal ear physiology	8556	CDC14A	OMIM:608653
HP:0031704	Abnormal ear physiology	6731	SRP72	OMIM:614675
HP:0031704	Abnormal ear physiology	1750	DLX6	ORPHA:2440
HP:0031704	Abnormal ear physiology	7979	SEM1	ORPHA:2440
HP:0031704	Abnormal ear physiology	8945	BTRC	ORPHA:2440
HP:0031704	Abnormal ear physiology	58513	EPS15L1	ORPHA:2440
HP:0031704	Abnormal ear physiology	6468	FBXW4	ORPHA:2440
HP:0031704	Abnormal ear physiology	7480	WNT10B	ORPHA:2440
HP:0031704	Abnormal ear physiology	51116	MRPS2	OMIM:617950
HP:0031704	Abnormal ear physiology	55033	FKBP14	ORPHA:300179
HP:0031704	Abnormal ear physiology	10265	IRX5	OMIM:611174
HP:0031704	Abnormal ear physiology	405753	DUOXA2	ORPHA:95716
HP:0031704	Abnormal ear physiology	6528	SLC5A5	ORPHA:95716
HP:0031704	Abnormal ear physiology	7038	TG	ORPHA:95716
HP:0031704	Abnormal ear physiology	7173	TPO	ORPHA:95716
HP:0031704	Abnormal ear physiology	389434	IYD	ORPHA:95716
HP:0031704	Abnormal ear physiology	50506	DUOX2	ORPHA:95716
HP:0031704	Abnormal ear physiology	2058	EPRS1	OMIM:617951
HP:0031704	Abnormal ear physiology	27315	PGAP2	OMIM:614207
HP:0031704	Abnormal ear physiology	708	C1QBP	OMIM:617713
HP:0031704	Abnormal ear physiology	128989	TANGO2	ORPHA:480864
HP:0031704	Abnormal ear physiology	128989	TANGO2	OMIM:616878
HP:0031704	Abnormal ear physiology	64423	INF2	OMIM:614455
HP:0031704	Abnormal ear physiology	2584	GALK1	ORPHA:79237
HP:0031704	Abnormal ear physiology	84059	ADGRV1	ORPHA:231178
HP:0031704	Abnormal ear physiology	246213	SLC17A8	OMIM:605583
HP:0031704	Abnormal ear physiology	51776	MAP3K20	OMIM:616890
HP:0031704	Abnormal ear physiology	182	JAG1	OMIM:617992
HP:0031704	Abnormal ear physiology	5116	PCNT	ORPHA:2637
HP:0031704	Abnormal ear physiology	63929	XPNPEP3	OMIM:613159
HP:0031704	Abnormal ear physiology	57731	SPTBN4	OMIM:617519
HP:0031704	Abnormal ear physiology	10518	CIB2	ORPHA:231169
HP:0031704	Abnormal ear physiology	2582	GALE	OMIM:230350
HP:0031704	Abnormal ear physiology	4512	MT-CO1	OMIM:540000
HP:0031704	Abnormal ear physiology	4513	MT-CO2	OMIM:540000
HP:0031704	Abnormal ear physiology	4514	MT-CO3	OMIM:540000
HP:0031704	Abnormal ear physiology	4519	MT-CYB	OMIM:540000
HP:0031704	Abnormal ear physiology	4511	MT-TC	OMIM:540000
HP:0031704	Abnormal ear physiology	4575	MT-TS2	OMIM:540000
HP:0031704	Abnormal ear physiology	4558	MT-TF	OMIM:540000
HP:0031704	Abnormal ear physiology	4541	MT-ND6	OMIM:540000
HP:0031704	Abnormal ear physiology	4540	MT-ND5	OMIM:540000
HP:0031704	Abnormal ear physiology	4566	MT-TK	OMIM:540000
HP:0031704	Abnormal ear physiology	4535	MT-ND1	OMIM:540000
HP:0031704	Abnormal ear physiology	4572	MT-TQ	OMIM:540000
HP:0031704	Abnormal ear physiology	4577	MT-TV	OMIM:540000
HP:0031704	Abnormal ear physiology	4578	MT-TW	OMIM:540000
HP:0031704	Abnormal ear physiology	7840	ALMS1	ORPHA:64
HP:0031704	Abnormal ear physiology	7840	ALMS1	OMIM:203800
HP:0031704	Abnormal ear physiology	4694	NDUFA1	OMIM:301020
HP:0031704	Abnormal ear physiology	1687	GSDME	OMIM:600994
HP:0031704	Abnormal ear physiology	10205	MPZL2	OMIM:618145
HP:0031704	Abnormal ear physiology	10463	SLC30A9	OMIM:617595
HP:0031704	Abnormal ear physiology	22901	ARSG	OMIM:618144
HP:0031704	Abnormal ear physiology	2625	GATA3	ORPHA:2237
HP:0031704	Abnormal ear physiology	4171	MCM2	OMIM:616968
HP:0031704	Abnormal ear physiology	53904	MYO3A	OMIM:607101
HP:0031704	Abnormal ear physiology	2671	GFER	ORPHA:330054
HP:0031704	Abnormal ear physiology	5456	POU3F4	OMIM:304400
HP:0031704	Abnormal ear physiology	79966	SCD5	OMIM:619086
HP:0031704	Abnormal ear physiology	4646	MYO6	OMIM:606346
HP:0031704	Abnormal ear physiology	163183	SYNE4	OMIM:615540
HP:0031704	Abnormal ear physiology	23395	LARS2	OMIM:615300
HP:0031704	Abnormal ear physiology	286262	TPRN	OMIM:613307
HP:0031704	Abnormal ear physiology	4976	OPA1	OMIM:125250
HP:0031704	Abnormal ear physiology	10755	GIPC1	ORPHA:98897
HP:0031704	Abnormal ear physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0031704	Abnormal ear physiology	166929	SGMS2	OMIM:126550
HP:0031704	Abnormal ear physiology	3199	HOXA2	OMIM:612290
HP:0031704	Abnormal ear physiology	55294	FBXW7	OMIM:620012
HP:0031704	Abnormal ear physiology	56975	FAM20C	OMIM:259775
HP:0031704	Abnormal ear physiology	84265	POLR3GL	OMIM:619234
HP:0031704	Abnormal ear physiology	5269	SERPINB6	OMIM:613453
HP:0031704	Abnormal ear physiology	9570	GOSR2	OMIM:620166
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276244
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276241
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276238
HP:0031704	Abnormal ear physiology	643226	GRXCR2	OMIM:615837
HP:0031704	Abnormal ear physiology	11190	CEP250	OMIM:618358
HP:0031704	Abnormal ear physiology	11133	KPTN	ORPHA:397612
HP:0031704	Abnormal ear physiology	81624	DIAPH3	OMIM:609129
HP:0031704	Abnormal ear physiology	2639	GCDH	ORPHA:25
HP:0031704	Abnormal ear physiology	7066	THPO	ORPHA:71493
HP:0031704	Abnormal ear physiology	3736	KCNA1	OMIM:160120
HP:0031704	Abnormal ear physiology	3736	KCNA1	ORPHA:37612
HP:0031704	Abnormal ear physiology	4598	MVK	OMIM:260920
HP:0031704	Abnormal ear physiology	785	CACNB4	OMIM:613855
HP:0031704	Abnormal ear physiology	785	CACNB4	ORPHA:211067
HP:0031704	Abnormal ear physiology	2057	EPOR	ORPHA:90042
HP:0031704	Abnormal ear physiology	2057	EPOR	OMIM:133100
HP:0031704	Abnormal ear physiology	6261	RYR1	ORPHA:466650
HP:0031704	Abnormal ear physiology	51816	ADA2	ORPHA:820
HP:0031704	Abnormal ear physiology	6507	SLC1A3	ORPHA:209967
HP:0031704	Abnormal ear physiology	6507	SLC1A3	OMIM:612656
HP:0031704	Abnormal ear physiology	3728	JUP	ORPHA:34217
HP:0031704	Abnormal ear physiology	9049	AIP	ORPHA:2965
HP:0031704	Abnormal ear physiology	7132	TNFRSF1A	ORPHA:32960
HP:0031704	Abnormal ear physiology	4633	MYL2	OMIM:608758
HP:0031704	Abnormal ear physiology	2642	GCGR	OMIM:619290
HP:0031704	Abnormal ear physiology	6326	SCN2A	OMIM:618924
HP:0031704	Abnormal ear physiology	4878	NPPA	ORPHA:1344
HP:0031704	Abnormal ear physiology	1281	COL3A1	ORPHA:286
HP:0031704	Abnormal ear physiology	2992	GYG1	ORPHA:263297
HP:0031704	Abnormal ear physiology	54805	CNNM2	OMIM:613882
HP:0031704	Abnormal ear physiology	27010	TPK1	OMIM:614458
HP:0031704	Abnormal ear physiology	2313	FLI1	ORPHA:370348
HP:0031704	Abnormal ear physiology	54795	TRPM4	ORPHA:871
HP:0031704	Abnormal ear physiology	1482	NKX2-5	ORPHA:871
HP:0031704	Abnormal ear physiology	6324	SCN1B	ORPHA:871
HP:0031704	Abnormal ear physiology	10019	SH2B3	OMIM:133100
HP:0031704	Abnormal ear physiology	1621	DBH	ORPHA:230
HP:0031704	Abnormal ear physiology	30813	VSX1	OMIM:614195
HP:0031704	Abnormal ear physiology	8913	CACNA1G	ORPHA:458803
HP:0031704	Abnormal ear physiology	253017	TECRL	ORPHA:3286
HP:0031704	Abnormal ear physiology	845	CASQ2	ORPHA:3286
HP:0031704	Abnormal ear physiology	6262	RYR2	ORPHA:3286
HP:0031704	Abnormal ear physiology	5371	PML	ORPHA:520
HP:0031704	Abnormal ear physiology	5914	RARA	ORPHA:520
HP:0031704	Abnormal ear physiology	359948	IRF2BP2	ORPHA:520
HP:0031704	Abnormal ear physiology	81608	FIP1L1	ORPHA:520
HP:0031704	Abnormal ear physiology	64859	NABP1	ORPHA:520
HP:0031704	Abnormal ear physiology	6777	STAT5B	ORPHA:520
HP:0031704	Abnormal ear physiology	4926	NUMA1	ORPHA:520
HP:0031704	Abnormal ear physiology	7704	ZBTB16	ORPHA:520
HP:0031704	Abnormal ear physiology	149233	IL23R	ORPHA:117
HP:0031704	Abnormal ear physiology	6775	STAT4	ORPHA:117
HP:0031704	Abnormal ear physiology	3586	IL10	ORPHA:117
HP:0031704	Abnormal ear physiology	4210	MEFV	ORPHA:117
HP:0031704	Abnormal ear physiology	1230	CCR1	ORPHA:117
HP:0031704	Abnormal ear physiology	3592	IL12A	ORPHA:117
HP:0031704	Abnormal ear physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031704	Abnormal ear physiology	7099	TLR4	ORPHA:117
HP:0031704	Abnormal ear physiology	3459	IFNGR1	ORPHA:117
HP:0031704	Abnormal ear physiology	720	C4A	ORPHA:117
HP:0031704	Abnormal ear physiology	337867	UBAC2	ORPHA:117
HP:0031704	Abnormal ear physiology	51752	ERAP1	ORPHA:117
HP:0031704	Abnormal ear physiology	8302	KLRC4	ORPHA:117
HP:0031704	Abnormal ear physiology	4627	MYH9	OMIM:603622
HP:0031704	Abnormal ear physiology	4009	LMX1A	OMIM:601412
HP:0031704	Abnormal ear physiology	5442	POLRMT	OMIM:619743
HP:0031704	Abnormal ear physiology	2259	FGF14	OMIM:193003
HP:0031704	Abnormal ear physiology	7407	VARS1	OMIM:617802
HP:0031704	Abnormal ear physiology	26012	NSMF	ORPHA:432
HP:0031704	Abnormal ear physiology	2796	GNRH1	ORPHA:432
HP:0031704	Abnormal ear physiology	2798	GNRHR	ORPHA:432
HP:0031704	Abnormal ear physiology	84634	KISS1R	ORPHA:432
HP:0031704	Abnormal ear physiology	6866	TAC3	ORPHA:432
HP:0031704	Abnormal ear physiology	3814	KISS1	ORPHA:432
HP:0031704	Abnormal ear physiology	51241	COX16	OMIM:619355
HP:0031704	Abnormal ear physiology	80000	GREB1L	OMIM:619274
HP:0031704	Abnormal ear physiology	51081	MRPS7	OMIM:617872
HP:0031704	Abnormal ear physiology	220074	LRTOMT	OMIM:611451
HP:0031704	Abnormal ear physiology	4919	ROR1	OMIM:617654
HP:0031704	Abnormal ear physiology	5959	RDH5	ORPHA:52427
HP:0031704	Abnormal ear physiology	54845	ESRP1	OMIM:618013
HP:0031704	Abnormal ear physiology	8942	KYNU	ORPHA:79155
HP:0031704	Abnormal ear physiology	6813	STXBP2	OMIM:613101
HP:0031704	Abnormal ear physiology	10269	ZMPSTE24	ORPHA:740
HP:0031704	Abnormal ear physiology	1513	CTSK	ORPHA:763
HP:0031704	Abnormal ear physiology	2186	BPTF	ORPHA:529962
HP:0031704	Abnormal ear physiology	1757	SARDH	ORPHA:3129
HP:0031704	Abnormal ear physiology	10216	PRG4	ORPHA:2848
HP:0031704	Abnormal ear physiology	54820	NDE1	ORPHA:2177
HP:0031704	Abnormal ear physiology	1716	DGUOK	ORPHA:329314
HP:0031704	Abnormal ear physiology	27316	RBMX	OMIM:300238
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309256
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309271
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309263
HP:0031704	Abnormal ear physiology	84334	COA8	ORPHA:436271
HP:0031704	Abnormal ear physiology	2521	FUS	ORPHA:275872
HP:0031704	Abnormal ear physiology	7415	VCP	ORPHA:275872
HP:0031704	Abnormal ear physiology	23435	TARDBP	ORPHA:275872
HP:0031704	Abnormal ear physiology	29110	TBK1	ORPHA:275872
HP:0031704	Abnormal ear physiology	25914	RTTN	ORPHA:468631
HP:0031704	Abnormal ear physiology	2811	GP1BA	ORPHA:853
HP:0031704	Abnormal ear physiology	3674	ITGA2B	ORPHA:853
HP:0031704	Abnormal ear physiology	3673	ITGA2	ORPHA:853
HP:0031704	Abnormal ear physiology	135228	CD109	ORPHA:853
HP:0031704	Abnormal ear physiology	3690	ITGB3	ORPHA:853
HP:0031704	Abnormal ear physiology	4131	MAP1B	OMIM:619808
HP:0031704	Abnormal ear physiology	55739	NAXD	OMIM:618321
HP:0031704	Abnormal ear physiology	8565	YARS1	OMIM:619418
HP:0031704	Abnormal ear physiology	131118	DNAJC19	ORPHA:66634
HP:0031704	Abnormal ear physiology	2961	GTF2E2	OMIM:616943
HP:0031704	Abnormal ear physiology	2961	GTF2E2	ORPHA:33364
HP:0031704	Abnormal ear physiology	833	CARS1	ORPHA:33364
HP:0031704	Abnormal ear physiology	7737	RNF113A	ORPHA:33364
HP:0031704	Abnormal ear physiology	136647	MPLKIP	ORPHA:33364
HP:0031704	Abnormal ear physiology	6897	TARS1	ORPHA:33364
HP:0031704	Abnormal ear physiology	22856	CHSY1	OMIM:605282
HP:0031704	Abnormal ear physiology	50617	ATP6V0A4	OMIM:602722
HP:0031704	Abnormal ear physiology	219972	MPEG1	OMIM:619223
HP:0031704	Abnormal ear physiology	10533	ATG7	OMIM:619422
HP:0031704	Abnormal ear physiology	92949	ADAMTSL1	ORPHA:521445
HP:0031704	Abnormal ear physiology	29899	GPSM2	OMIM:604213
HP:0031704	Abnormal ear physiology	11078	TRIOBP	OMIM:609823
HP:0031704	Abnormal ear physiology	57479	PRR12	OMIM:619539
HP:0031704	Abnormal ear physiology	55901	THSD1	OMIM:620244
HP:0031704	Abnormal ear physiology	5962	RDX	OMIM:611022
HP:0031704	Abnormal ear physiology	6558	SLC12A2	OMIM:619081
HP:0031704	Abnormal ear physiology	51168	MYO15A	OMIM:600316
HP:0031704	Abnormal ear physiology	4574	MT-TS1	OMIM:580000
HP:0031704	Abnormal ear physiology	55687	TRMU	OMIM:580000
HP:0031704	Abnormal ear physiology	1801	DPH1	ORPHA:459061
HP:0031704	Abnormal ear physiology	2059	EPS8	OMIM:615974
HP:0031704	Abnormal ear physiology	3868	KRT16	ORPHA:2309
HP:0031704	Abnormal ear physiology	3872	KRT17	ORPHA:2309
HP:0031704	Abnormal ear physiology	3853	KRT6A	ORPHA:2309
HP:0031704	Abnormal ear physiology	3854	KRT6B	ORPHA:2309
HP:0031704	Abnormal ear physiology	847	CAT	ORPHA:926
HP:0031705	Compensatory head posture	55605	KIF21A	OMIM:135700
HP:0031705	Compensatory head posture	84570	COL25A1	ORPHA:91411
HP:0031705	Compensatory head posture	79776	ZFHX4	ORPHA:91411
HP:0031705	Compensatory head posture	10381	TUBB3	OMIM:600638
HP:0031705	Compensatory head posture	4308	TRPM1	ORPHA:215
HP:0031705	Compensatory head posture	57010	CABP4	ORPHA:215
HP:0031705	Compensatory head posture	345193	LRIT3	ORPHA:215
HP:0031705	Compensatory head posture	93589	CACNA2D4	ORPHA:215
HP:0031705	Compensatory head posture	2916	GRM6	ORPHA:215
HP:0031705	Compensatory head posture	5158	PDE6B	ORPHA:215
HP:0031705	Compensatory head posture	440435	GPR179	ORPHA:215
HP:0031705	Compensatory head posture	6011	GRK1	ORPHA:215
HP:0031705	Compensatory head posture	778	CACNA1F	ORPHA:215
HP:0031705	Compensatory head posture	6010	RHO	ORPHA:215
HP:0031705	Compensatory head posture	9187	SLC24A1	ORPHA:215
HP:0031705	Compensatory head posture	6295	SAG	ORPHA:215
HP:0031705	Compensatory head posture	2784	GNB3	ORPHA:215
HP:0031705	Compensatory head posture	2779	GNAT1	ORPHA:215
HP:0031705	Compensatory head posture	60506	NYX	ORPHA:215
HP:0031713	Constant exotropia	4841	NONO	ORPHA:466791
HP:0031717	Alternating exotropia	23291	FBXW11	OMIM:618914
HP:0031717	Alternating exotropia	8367	H4C5	OMIM:619950
HP:0031717	Alternating exotropia	2590	GALNT2	OMIM:618885
HP:0031717	Alternating exotropia	224	ALDH3A2	OMIM:270200
HP:0034280	Target cells	3043	HBB	OMIM:603903
HP:0034281	Phalangeal cone-shaped epiphyses	2121	EVC	OMIM:225500
HP:0034281	Phalangeal cone-shaped epiphyses	132884	EVC2	OMIM:225500
HP:0034281	Phalangeal cone-shaped epiphyses	54808	DYM	OMIM:223800
HP:0034281	Phalangeal cone-shaped epiphyses	1280	COL2A1	OMIM:271700
HP:0034281	Phalangeal cone-shaped epiphyses	59341	TRPV4	OMIM:184252
HP:0034281	Phalangeal cone-shaped epiphyses	4882	NPR2	OMIM:602875
HP:0034281	Phalangeal cone-shaped epiphyses	56992	KIF15	ORPHA:261323
HP:0034281	Phalangeal cone-shaped epiphyses	26160	IFT172	OMIM:615630
HP:0034281	Phalangeal cone-shaped epiphyses	4750	NEK1	ORPHA:2751
HP:0034281	Phalangeal cone-shaped epiphyses	2131	EXT1	ORPHA:502
HP:0034281	Phalangeal cone-shaped epiphyses	25839	COG4	OMIM:618150
HP:0034281	Phalangeal cone-shaped epiphyses	25839	COG4	ORPHA:85172
HP:0034281	Phalangeal cone-shaped epiphyses	10847	SRCAP	OMIM:136140
HP:0034281	Phalangeal cone-shaped epiphyses	3549	IHH	OMIM:607778
HP:0034281	Phalangeal cone-shaped epiphyses	9742	IFT140	OMIM:617781
HP:0034281	Phalangeal cone-shaped epiphyses	9742	IFT140	OMIM:266920
HP:0034281	Phalangeal cone-shaped epiphyses	633	BGN	OMIM:300106
HP:0034281	Phalangeal cone-shaped epiphyses	860	RUNX2	OMIM:119600
HP:0034281	Phalangeal cone-shaped epiphyses	9321	TRIP11	OMIM:184260
HP:0034281	Phalangeal cone-shaped epiphyses	375056	MIA3	OMIM:619269
HP:0034281	Phalangeal cone-shaped epiphyses	9451	EIF2AK3	OMIM:226980
HP:0034281	Phalangeal cone-shaped epiphyses	51098	IFT52	OMIM:617102
HP:0034281	Phalangeal cone-shaped epiphyses	2261	FGFR3	OMIM:602849
HP:0034281	Phalangeal cone-shaped epiphyses	2316	FLNA	OMIM:309350
HP:0034281	Phalangeal cone-shaped epiphyses	2316	FLNA	ORPHA:2484
HP:0034281	Phalangeal cone-shaped epiphyses	545	ATR	OMIM:210600
HP:0034281	Phalangeal cone-shaped epiphyses	5573	PRKAR1A	OMIM:101800
HP:0034281	Phalangeal cone-shaped epiphyses	6023	RMRP	OMIM:250460
HP:0034281	Phalangeal cone-shaped epiphyses	2879	GPX4	OMIM:250220
HP:0034281	Phalangeal cone-shaped epiphyses	28957	MRPS28	OMIM:618958
HP:0034281	Phalangeal cone-shaped epiphyses	8200	GDF5	OMIM:113100
HP:0034281	Phalangeal cone-shaped epiphyses	7227	TRPS1	OMIM:190350
HP:0034281	Phalangeal cone-shaped epiphyses	23102	TBC1D2B	ORPHA:397973
HP:0034282	Subcutaneous ossification	2778	GNAS	OMIM:103580
HP:0034283	Increased fecal protoporphyrin concentration	5498	PPOX	OMIM:176200
HP:0034283	Increased fecal protoporphyrin concentration	3077	HFE	OMIM:176200
HP:0034284	Recurrent gingivitis	3579	CXCR2	OMIM:619407
HP:0034285	Enteroviral encephalitis	959	CD40LG	OMIM:308230
HP:0034286	Pneumocystis carinii pneumonia	959	CD40LG	OMIM:308230
HP:0034287	Afibrinogenemia	2243	FGA	OMIM:202400
HP:0034287	Afibrinogenemia	2244	FGB	OMIM:202400
HP:0034287	Afibrinogenemia	2266	FGG	OMIM:202400
HP:0034288	Elevated circulating reverse T3 concentration	1733	DIO1	OMIM:619855
HP:0034288	Elevated circulating reverse T3 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0034289	Elevated circulating rT3/T3 ratio	1733	DIO1	OMIM:619855
HP:0031729	Moderate hypermetropia	23345	SYNE1	ORPHA:319332
HP:0031729	Moderate hypermetropia	388552	BLOC1S3	OMIM:614077
HP:0031721	Sensory exotropia	55605	KIF21A	OMIM:135700
HP:0031723	Secondary esotropia	55605	KIF21A	OMIM:135700
HP:0031739	Abnormal oblique muscle physiology	2200	FBN1	OMIM:154700
HP:0034290	Elevated circulating tiglylglycine concentration	3028	HSD17B10	OMIM:300438
HP:0034291	Elevated circulating creatine concentration	6535	SLC6A8	OMIM:300352
HP:0034291	Elevated circulating creatine concentration	23534	TNPO3	OMIM:608423
HP:0034293	Temporal lobe calcification	1893	ECM1	OMIM:247100
HP:0034294	Ductal bile plugs	9420	CYP7B1	OMIM:613812
HP:0034294	Ductal bile plugs	51473	DCDC2	OMIM:617394
HP:0034295	Reduced cerebral white matter volume	55252	ASXL2	OMIM:617190
HP:0034295	Reduced cerebral white matter volume	63925	ZNF335	OMIM:615095
HP:0034295	Reduced cerebral white matter volume	4704	NDUFA9	OMIM:618247
HP:0034295	Reduced cerebral white matter volume	375	ARF1	OMIM:618185
HP:0034295	Reduced cerebral white matter volume	29920	PYCR2	OMIM:616420
HP:0034295	Reduced cerebral white matter volume	7862	BRPF1	OMIM:617333
HP:0034295	Reduced cerebral white matter volume	343450	KCNT2	OMIM:617771
HP:0034295	Reduced cerebral white matter volume	5119	CHMP1A	OMIM:614961
HP:0034295	Reduced cerebral white matter volume	5530	PPP3CA	OMIM:617711
HP:0034295	Reduced cerebral white matter volume	9487	PIGL	OMIM:280000
HP:0034295	Reduced cerebral white matter volume	6709	SPTAN1	OMIM:613477
HP:0034295	Reduced cerebral white matter volume	64919	BCL11B	OMIM:617237
HP:0034295	Reduced cerebral white matter volume	54187	NANS	OMIM:610442
HP:0034295	Reduced cerebral white matter volume	56270	WDR45B	OMIM:617977
HP:0034295	Reduced cerebral white matter volume	54675	CRLS1	OMIM:620167
HP:0034295	Reduced cerebral white matter volume	4695	NDUFA2	OMIM:618235
HP:0034295	Reduced cerebral white matter volume	1496	CTNNA2	OMIM:618174
HP:0034295	Reduced cerebral white matter volume	51506	UFC1	OMIM:618076
HP:0034295	Reduced cerebral white matter volume	2566	GABRG2	OMIM:618396
HP:0034295	Reduced cerebral white matter volume	4700	NDUFA6	OMIM:618253
HP:0034295	Reduced cerebral white matter volume	3658	IREB2	OMIM:618451
HP:0034295	Reduced cerebral white matter volume	7280	TUBB2A	OMIM:615763
HP:0034295	Reduced cerebral white matter volume	2475	MTOR	OMIM:616638
HP:0034295	Reduced cerebral white matter volume	27445	PCLO	OMIM:608027
HP:0034295	Reduced cerebral white matter volume	9230	RAB11B	OMIM:617807
HP:0034295	Reduced cerebral white matter volume	10978	CLP1	OMIM:615803
HP:0034295	Reduced cerebral white matter volume	26153	KIF26A	OMIM:620156
HP:0034295	Reduced cerebral white matter volume	1759	DNM1	OMIM:620352
HP:0034295	Reduced cerebral white matter volume	10430	TMEM147	OMIM:620075
HP:0034297	Elevated circulating tetracosanoic acid concentration	55670	PEX26	OMIM:614872
HP:0034298	Elevated circulating hexacosanoic acid concentration	10059	DNM1L	OMIM:614388
HP:0034298	Elevated circulating hexacosanoic acid concentration	55670	PEX26	OMIM:614872
HP:0034299	Sertoli cell-only phenotype	402381	SOHLH1	OMIM:618115
HP:0034299	Sertoli cell-only phenotype	125150	ZSWIM7	OMIM:619831
HP:0031766	Convergence excess esotropia	9968	MED12	OMIM:301068
HP:0031772	Abnormal posterior circulating artery morphology	84667	HES7	OMIM:613686
HP:0005900	Fifth metacarpal with ulnar notch	2200	FBN1	ORPHA:969
HP:0005900	Fifth metacarpal with ulnar notch	2200	FBN1	OMIM:102370
HP:0005900	Fifth metacarpal with ulnar notch	4054	LTBP3	ORPHA:969
HP:0001482	Subcutaneous nodule	1499	CTNNB1	ORPHA:91414
HP:0001482	Subcutaneous nodule	1499	CTNNB1	ORPHA:873
HP:0001482	Subcutaneous nodule	118429	ANTXR2	ORPHA:2176
HP:0001482	Subcutaneous nodule	118429	ANTXR2	ORPHA:2028
HP:0001482	Subcutaneous nodule	118429	ANTXR2	OMIM:228600
HP:0001482	Subcutaneous nodule	3643	INSR	ORPHA:2297
HP:0001482	Subcutaneous nodule	114803	MYSM1	ORPHA:508542
HP:0001482	Subcutaneous nodule	1294	COL7A1	ORPHA:89843
HP:0001482	Subcutaneous nodule	5155	PDGFB	ORPHA:31112
HP:0001482	Subcutaneous nodule	23592	LEMD3	ORPHA:1879
HP:0001482	Subcutaneous nodule	23592	LEMD3	ORPHA:94063
HP:0001482	Subcutaneous nodule	23592	LEMD3	ORPHA:1306
HP:0001482	Subcutaneous nodule	1540	CYLD	ORPHA:211
HP:0001482	Subcutaneous nodule	1540	CYLD	ORPHA:867
HP:0001482	Subcutaneous nodule	5745	PTH1R	ORPHA:296
HP:0001482	Subcutaneous nodule	3418	IDH2	ORPHA:296
HP:0001482	Subcutaneous nodule	3418	IDH2	ORPHA:163634
HP:0001482	Subcutaneous nodule	3417	IDH1	ORPHA:296
HP:0001482	Subcutaneous nodule	3417	IDH1	ORPHA:163634
HP:0001482	Subcutaneous nodule	2200	FBN1	ORPHA:2833
HP:0001482	Subcutaneous nodule	2260	FGFR1	ORPHA:2396
HP:0001482	Subcutaneous nodule	3845	KRAS	ORPHA:2396
HP:0001482	Subcutaneous nodule	2717	GLA	ORPHA:324
HP:0001482	Subcutaneous nodule	4323	MMP14	OMIM:277950
HP:0001482	Subcutaneous nodule	4323	MMP14	ORPHA:371428
HP:0001482	Subcutaneous nodule	4313	MMP2	ORPHA:371428
HP:0001482	Subcutaneous nodule	4313	MMP2	OMIM:259600
HP:0001482	Subcutaneous nodule	673	BRAF	ORPHA:840
HP:0001482	Subcutaneous nodule	673	BRAF	ORPHA:500
HP:0001482	Subcutaneous nodule	10483	SEC23B	ORPHA:201
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:201
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:109
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:744
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:137608
HP:0001482	Subcutaneous nodule	6390	SDHB	ORPHA:201
HP:0001482	Subcutaneous nodule	6392	SDHD	ORPHA:201
HP:0001482	Subcutaneous nodule	6391	SDHC	ORPHA:201
HP:0001482	Subcutaneous nodule	207	AKT1	ORPHA:201
HP:0001482	Subcutaneous nodule	207	AKT1	ORPHA:744
HP:0001482	Subcutaneous nodule	205717	USF3	ORPHA:201
HP:0001482	Subcutaneous nodule	5290	PIK3CA	ORPHA:201
HP:0001482	Subcutaneous nodule	100144748	KLLN	ORPHA:201
HP:0001482	Subcutaneous nodule	1281	COL3A1	ORPHA:286
HP:0001482	Subcutaneous nodule	8091	HMGA2	ORPHA:94063
HP:0001482	Subcutaneous nodule	8091	HMGA2	ORPHA:99971
HP:0001482	Subcutaneous nodule	567	B2M	OMIM:241600
HP:0001482	Subcutaneous nodule	7010	TEK	ORPHA:1059
HP:0001482	Subcutaneous nodule	56244	BTNL2	ORPHA:797
HP:0001482	Subcutaneous nodule	3123	HLA-DRB1	ORPHA:797
HP:0001482	Subcutaneous nodule	324	APC	ORPHA:873
HP:0001482	Subcutaneous nodule	64840	PORCN	ORPHA:2092
HP:0001482	Subcutaneous nodule	7249	TSC2	OMIM:613254
HP:0001482	Subcutaneous nodule	3458	IFNG	OMIM:613254
HP:0001482	Subcutaneous nodule	83706	FERMT3	OMIM:612840
HP:0001482	Subcutaneous nodule	4157	MC1R	ORPHA:626
HP:0001482	Subcutaneous nodule	4893	NRAS	ORPHA:626
HP:0001482	Subcutaneous nodule	4952	OCRL	OMIM:309000
HP:0001482	Subcutaneous nodule	5781	PTPN11	ORPHA:500
HP:0001482	Subcutaneous nodule	5894	RAF1	ORPHA:500
HP:0001482	Subcutaneous nodule	1019	CDK4	ORPHA:99971
HP:0001482	Subcutaneous nodule	4193	MDM2	ORPHA:99971
HP:0001482	Subcutaneous nodule	2263	FGFR2	ORPHA:1555
HP:0001482	Subcutaneous nodule	4982	TNFRSF11B	ORPHA:2801
HP:0001482	Subcutaneous nodule	8792	TNFRSF11A	ORPHA:2801
HP:0001482	Subcutaneous nodule	3832	KIF11	ORPHA:2526
HP:0001482	Subcutaneous nodule	7248	TSC1	OMIM:191100
HP:0001482	Subcutaneous nodule	6299	SALL1	ORPHA:857
HP:0001482	Subcutaneous nodule	51339	DACT1	ORPHA:857
HP:0001482	Subcutaneous nodule	2521	FUS	ORPHA:99967
HP:0001482	Subcutaneous nodule	1649	DDIT3	ORPHA:99967
HP:0001482	Subcutaneous nodule	2778	GNAS	ORPHA:2762
HP:0001482	Subcutaneous nodule	90	ACVR1	ORPHA:337
HP:0001482	Subcutaneous nodule	1893	ECM1	ORPHA:530
HP:0001482	Subcutaneous nodule	4854	NOTCH3	ORPHA:2591
HP:0001482	Subcutaneous nodule	5159	PDGFRB	ORPHA:2591
HP:0001482	Subcutaneous nodule	348	APOE	ORPHA:158029
HP:0001482	Subcutaneous nodule	51371	POMP	OMIM:618048
HP:0001482	Subcutaneous nodule	4668	NAGA	ORPHA:79280
HP:0001482	Subcutaneous nodule	3593	IL12B	ORPHA:3287
HP:0001482	Subcutaneous nodule	3106	HLA-B	ORPHA:3287
HP:0001482	Subcutaneous nodule	3106	HLA-B	ORPHA:117
HP:0001482	Subcutaneous nodule	6945	MLX	ORPHA:3287
HP:0001482	Subcutaneous nodule	2744	GLS	OMIM:618339
HP:0001482	Subcutaneous nodule	5167	ENPP1	ORPHA:758
HP:0001482	Subcutaneous nodule	368	ABCC6	ORPHA:758
HP:0001482	Subcutaneous nodule	149233	IL23R	ORPHA:117
HP:0001482	Subcutaneous nodule	6775	STAT4	ORPHA:117
HP:0001482	Subcutaneous nodule	3586	IL10	ORPHA:117
HP:0001482	Subcutaneous nodule	4210	MEFV	ORPHA:117
HP:0001482	Subcutaneous nodule	1230	CCR1	ORPHA:117
HP:0001482	Subcutaneous nodule	355	FAS	ORPHA:117
HP:0001482	Subcutaneous nodule	3592	IL12A	ORPHA:117
HP:0001482	Subcutaneous nodule	101928376	IL12A-AS1	ORPHA:117
HP:0001482	Subcutaneous nodule	7099	TLR4	ORPHA:117
HP:0001482	Subcutaneous nodule	3459	IFNGR1	ORPHA:117
HP:0001482	Subcutaneous nodule	720	C4A	ORPHA:117
HP:0001482	Subcutaneous nodule	337867	UBAC2	ORPHA:117
HP:0001482	Subcutaneous nodule	51752	ERAP1	ORPHA:117
HP:0001482	Subcutaneous nodule	8302	KLRC4	ORPHA:117
HP:0001482	Subcutaneous nodule	427	ASAH1	OMIM:228000
HP:0001482	Subcutaneous nodule	427	ASAH1	ORPHA:333
HP:0001482	Subcutaneous nodule	55699	IARS2	ORPHA:436174
HP:0001482	Subcutaneous nodule	1277	COL1A1	ORPHA:287
HP:0001482	Subcutaneous nodule	1289	COL5A1	ORPHA:287
HP:0001482	Subcutaneous nodule	1289	COL5A1	OMIM:130000
HP:0001482	Subcutaneous nodule	1290	COL5A2	ORPHA:287
HP:0001482	Subcutaneous nodule	1290	COL5A2	OMIM:130010
HP:0001839	Split foot	8626	TP63	OMIM:603543
HP:0001839	Split foot	8626	TP63	OMIM:605289
HP:0001839	Split foot	8626	TP63	OMIM:604292
HP:0001839	Split foot	8626	TP63	ORPHA:1896
HP:0001839	Split foot	8626	TP63	ORPHA:978
HP:0001839	Split foot	8626	TP63	OMIM:103285
HP:0001839	Split foot	64840	PORCN	OMIM:305600
HP:0001839	Split foot	64840	PORCN	ORPHA:2092
HP:0001839	Split foot	7480	WNT10B	OMIM:225300
HP:0001839	Split foot	10054	UBA2	OMIM:619959
HP:0001839	Split foot	2263	FGFR2	ORPHA:1540
HP:0001839	Split foot	1749	DLX5	OMIM:220600
HP:0001839	Split foot	1749	DLX5	OMIM:183600
HP:0001839	Split foot	51776	MAP3K20	OMIM:616890
HP:0001839	Split foot	51776	MAP3K20	ORPHA:488232
HP:0001839	Split foot	2737	GLI3	ORPHA:93322
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	ORPHA:56304
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	OMIM:256050
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	OMIM:222600
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	ORPHA:93307
HP:0005905	Abnormal cervical curvature	64412	GZF1	OMIM:617662
HP:0005905	Abnormal cervical curvature	113189	CHST14	ORPHA:2953
HP:0005905	Abnormal cervical curvature	29940	DSE	ORPHA:2953
HP:0005905	Abnormal cervical curvature	134701	RIPPLY2	OMIM:616566
HP:0005905	Abnormal cervical curvature	6662	SOX9	OMIM:114290
HP:0005905	Abnormal cervical curvature	3339	HSPG2	OMIM:255800
HP:0005905	Abnormal cervical curvature	415	ARSL	ORPHA:79345
HP:0005905	Abnormal cervical curvature	2317	FLNB	ORPHA:56305
HP:0005905	Abnormal cervical curvature	1146	CHRNG	OMIM:253290
HP:0005905	Abnormal cervical curvature	1144	CHRND	OMIM:253290
HP:0005905	Abnormal cervical curvature	1134	CHRNA1	OMIM:253290
HP:0005906	Delayed pneumatization of the mastoid process	1513	CTSK	ORPHA:763
HP:0500114	Abnormal stool urobilinogen concentration	7390	UROS	ORPHA:79277
HP:0500114	Abnormal stool urobilinogen concentration	2623	GATA1	ORPHA:79277
HP:0500115	Increased stool urobilinogen concentration	7390	UROS	ORPHA:79277
HP:0500115	Increased stool urobilinogen concentration	2623	GATA1	ORPHA:79277
HP:0010048	Aplasia of metacarpal bones	7516	XRCC2	OMIM:617247
HP:0010048	Aplasia of metacarpal bones	2177	FANCD2	OMIM:227646
HP:0010048	Aplasia of metacarpal bones	9896	FIG4	ORPHA:3472
HP:0010048	Aplasia of metacarpal bones	55697	VAC14	ORPHA:3472
HP:0010048	Aplasia of metacarpal bones	6469	SHH	ORPHA:93321
HP:0010048	Aplasia of metacarpal bones	7204	TRIO	ORPHA:476126
HP:0010048	Aplasia of metacarpal bones	6926	TBX3	OMIM:181450
HP:0010048	Aplasia of metacarpal bones	2737	GLI3	ORPHA:93322
HP:0010048	Aplasia of metacarpal bones	9401	RECQL4	OMIM:218600
HP:0010048	Aplasia of metacarpal bones	64327	LMBR1	OMIM:200500
HP:0010048	Aplasia of metacarpal bones	57167	SALL4	OMIM:607323
HP:0005912	Biliary atresia	9361	LONP1	ORPHA:1458
HP:0005912	Biliary atresia	9076	CLDN1	OMIM:607626
HP:0005912	Biliary atresia	56623	INPP5E	ORPHA:1454
HP:0005912	Biliary atresia	91147	TMEM67	ORPHA:1454
HP:0005912	Biliary atresia	23322	RPGRIP1L	ORPHA:1454
HP:0005912	Biliary atresia	57545	CC2D2A	ORPHA:1454
HP:0005912	Biliary atresia	26123	TCTN3	OMIM:614815
HP:0005912	Biliary atresia	26276	VPS33B	OMIM:208085
HP:0005912	Biliary atresia	2627	GATA6	OMIM:600001
HP:0005912	Biliary atresia	2627	GATA6	ORPHA:2255
HP:0005912	Biliary atresia	222546	RFX6	OMIM:615710
HP:0005912	Biliary atresia	7547	ZIC3	OMIM:306955
HP:0005912	Biliary atresia	2072	ERCC4	OMIM:615272
HP:0005913	Abnormal metacarpal epiphysis morphology	5447	POR	ORPHA:95699
HP:0005913	Abnormal metacarpal epiphysis morphology	3549	IHH	OMIM:607778
HP:0005913	Abnormal metacarpal epiphysis morphology	3549	IHH	ORPHA:63446
HP:0005913	Abnormal metacarpal epiphysis morphology	633	BGN	OMIM:300106
HP:0005913	Abnormal metacarpal epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005913	Abnormal metacarpal epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005913	Abnormal metacarpal epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005913	Abnormal metacarpal epiphysis morphology	25839	COG4	OMIM:618150
HP:0005913	Abnormal metacarpal epiphysis morphology	5116	PCNT	OMIM:210720
HP:0005913	Abnormal metacarpal epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005913	Abnormal metacarpal epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005917	Supernumerary metacarpal bones	6469	SHH	ORPHA:93405
HP:0005917	Supernumerary metacarpal bones	3239	HOXD13	OMIM:186000
HP:0005917	Supernumerary metacarpal bones	2737	GLI3	ORPHA:672
HP:0005917	Supernumerary metacarpal bones	64327	LMBR1	OMIM:186200
HP:0010660	Abnormal hand bone ossification	9361	LONP1	OMIM:600373
HP:0010660	Abnormal hand bone ossification	8720	MBTPS1	OMIM:618392
HP:0010660	Abnormal hand bone ossification	59341	TRPV4	OMIM:184252
HP:0010660	Abnormal hand bone ossification	3549	IHH	OMIM:607778
HP:0010660	Abnormal hand bone ossification	633	BGN	OMIM:300106
HP:0010660	Abnormal hand bone ossification	23233	EXOC6B	OMIM:618395
HP:0010660	Abnormal hand bone ossification	2137	EXTL3	OMIM:617425
HP:0010660	Abnormal hand bone ossification	55325	UFSP2	OMIM:617974
HP:0010660	Abnormal hand bone ossification	6023	RMRP	OMIM:607095
HP:0010660	Abnormal hand bone ossification	3209	HOXA13	OMIM:140000
HP:0010660	Abnormal hand bone ossification	1280	COL2A1	ORPHA:93346
HP:0010660	Abnormal hand bone ossification	865	CBFB	OMIM:620099
HP:0010660	Abnormal hand bone ossification	4796	TONSL	OMIM:271510
HP:0010660	Abnormal hand bone ossification	4148	MATN3	OMIM:607078
HP:0010660	Abnormal hand bone ossification	55650	PIGV	OMIM:239300
HP:0010660	Abnormal hand bone ossification	84068	SLC10A7	OMIM:618363
HP:0010660	Abnormal hand bone ossification	29072	SETD2	OMIM:616831
HP:0010660	Abnormal hand bone ossification	5144	PDE4D	OMIM:614613
HP:0010660	Abnormal hand bone ossification	54187	NANS	OMIM:610442
HP:0010660	Abnormal hand bone ossification	64131	XYLT1	OMIM:615777
HP:0010660	Abnormal hand bone ossification	347734	SLC35B2	OMIM:620269
HP:0010660	Abnormal hand bone ossification	126792	B3GALT6	OMIM:615349
HP:0010660	Abnormal hand bone ossification	126792	B3GALT6	OMIM:271640
HP:0010660	Abnormal hand bone ossification	23169	SLC35D1	OMIM:269250
HP:0010660	Abnormal hand bone ossification	124583	CANT1	OMIM:617719
HP:0010660	Abnormal hand bone ossification	124583	CANT1	OMIM:251450
HP:0010660	Abnormal hand bone ossification	5745	PTH1R	OMIM:215045
HP:0010660	Abnormal hand bone ossification	23592	LEMD3	ORPHA:166119
HP:0010660	Abnormal hand bone ossification	10682	EBP	OMIM:302960
HP:0010660	Abnormal hand bone ossification	10568	SLC34A2	ORPHA:60025
HP:0010660	Abnormal hand bone ossification	5727	PTCH1	OMIM:109400
HP:0010660	Abnormal hand bone ossification	9469	CHST3	OMIM:143095
HP:0010660	Abnormal hand bone ossification	2317	FLNB	OMIM:150250
HP:0010660	Abnormal hand bone ossification	2719	GPC3	OMIM:312870
HP:0010660	Abnormal hand bone ossification	2239	GPC4	OMIM:312870
HP:0010660	Abnormal hand bone ossification	4921	DDR2	OMIM:271665
HP:0010660	Abnormal hand bone ossification	5167	ENPP1	ORPHA:51608
HP:0010660	Abnormal hand bone ossification	368	ABCC6	ORPHA:51608
HP:0010660	Abnormal hand bone ossification	8200	GDF5	ORPHA:93384
HP:0010660	Abnormal hand bone ossification	658	BMPR1B	ORPHA:93384
HP:0010660	Abnormal hand bone ossification	415	ARSL	ORPHA:79345
HP:0010660	Abnormal hand bone ossification	9321	TRIP11	OMIM:200600
HP:0010660	Abnormal hand bone ossification	2316	FLNA	OMIM:300244
HP:0005922	Abnormal hand morphology	54806	AHI1	ORPHA:475
HP:0005922	Abnormal hand morphology	54806	AHI1	ORPHA:220493
HP:0005922	Abnormal hand morphology	200894	ARL13B	ORPHA:475
HP:0005922	Abnormal hand morphology	9731	CEP104	ORPHA:475
HP:0005922	Abnormal hand morphology	23247	KATNIP	ORPHA:475
HP:0005922	Abnormal hand morphology	219854	TMEM218	ORPHA:475
HP:0005922	Abnormal hand morphology	95681	CEP41	ORPHA:475
HP:0005922	Abnormal hand morphology	95681	CEP41	ORPHA:220493
HP:0005922	Abnormal hand morphology	9786	KIAA0586	ORPHA:475
HP:0005922	Abnormal hand morphology	10464	PIBF1	ORPHA:475
HP:0005922	Abnormal hand morphology	23116	TOGARAM1	ORPHA:475
HP:0005922	Abnormal hand morphology	25776	CBY1	ORPHA:475
HP:0005922	Abnormal hand morphology	403	ARL3	ORPHA:475
HP:0005922	Abnormal hand morphology	10682	EBP	ORPHA:401973
HP:0005922	Abnormal hand morphology	5626	PROP1	ORPHA:226307
HP:0005922	Abnormal hand morphology	89884	LHX4	ORPHA:226307
HP:0005922	Abnormal hand morphology	8022	LHX3	ORPHA:226307
HP:0005922	Abnormal hand morphology	5449	POU1F1	ORPHA:226307
HP:0005922	Abnormal hand morphology	8820	HESX1	ORPHA:226307
HP:0005922	Abnormal hand morphology	5290	PIK3CA	ORPHA:60040
HP:0005922	Abnormal hand morphology	51	ACOX1	ORPHA:2971
HP:0005922	Abnormal hand morphology	7547	ZIC3	OMIM:314390
HP:0005922	Abnormal hand morphology	26154	ABCA12	ORPHA:457
HP:0005922	Abnormal hand morphology	8241	RBM10	ORPHA:2886
HP:0005922	Abnormal hand morphology	1312	COMT	ORPHA:567
HP:0005922	Abnormal hand morphology	221037	JMJD1C	ORPHA:567
HP:0005922	Abnormal hand morphology	2812	GP1BB	ORPHA:567
HP:0005922	Abnormal hand morphology	6239	RREB1	ORPHA:567
HP:0005922	Abnormal hand morphology	7290	HIRA	ORPHA:567
HP:0005922	Abnormal hand morphology	9632	SEC24C	ORPHA:567
HP:0005922	Abnormal hand morphology	7353	UFD1	ORPHA:567
HP:0005922	Abnormal hand morphology	421	ARVCF	ORPHA:567
HP:0005922	Abnormal hand morphology	51524	TMEM138	ORPHA:2318
HP:0005922	Abnormal hand morphology	23090	ZNF423	ORPHA:2318
HP:0005922	Abnormal hand morphology	10210	TOPORS	ORPHA:2754
HP:0005922	Abnormal hand morphology	317662	FAM149B1	ORPHA:2754
HP:0005922	Abnormal hand morphology	9897	WASHC5	ORPHA:7
HP:0005922	Abnormal hand morphology	5566	PRKACA	ORPHA:289
HP:0005922	Abnormal hand morphology	25970	SH2B1	ORPHA:261197
HP:0005922	Abnormal hand morphology	6469	SHH	ORPHA:93405
HP:0005922	Abnormal hand morphology	2313	FLI1	ORPHA:2308
HP:0005922	Abnormal hand morphology	6309	SC5D	ORPHA:46059
HP:0005922	Abnormal hand morphology	6309	SC5D	OMIM:607330
HP:0005922	Abnormal hand morphology	894	CCND2	ORPHA:83473
HP:0005922	Abnormal hand morphology	894	CCND2	OMIM:615938
HP:0005922	Abnormal hand morphology	5296	PIK3R2	ORPHA:83473
HP:0005922	Abnormal hand morphology	10000	AKT3	ORPHA:83473
HP:0005922	Abnormal hand morphology	10000	AKT3	OMIM:615937
HP:0005922	Abnormal hand morphology	26160	IFT172	OMIM:615630
HP:0005922	Abnormal hand morphology	26160	IFT172	ORPHA:474
HP:0005922	Abnormal hand morphology	26160	IFT172	OMIM:619471
HP:0005922	Abnormal hand morphology	26160	IFT172	ORPHA:110
HP:0005922	Abnormal hand morphology	54585	LZTFL1	OMIM:615994
HP:0005922	Abnormal hand morphology	54585	LZTFL1	ORPHA:110
HP:0005922	Abnormal hand morphology	8195	MKKS	OMIM:236700
HP:0005922	Abnormal hand morphology	8195	MKKS	ORPHA:110
HP:0005922	Abnormal hand morphology	8195	MKKS	ORPHA:2473
HP:0005922	Abnormal hand morphology	56623	INPP5E	OMIM:213300
HP:0005922	Abnormal hand morphology	56623	INPP5E	ORPHA:1454
HP:0005922	Abnormal hand morphology	55593	OTUD5	OMIM:301056
HP:0005922	Abnormal hand morphology	83479	DDX59	OMIM:174300
HP:0005922	Abnormal hand morphology	83479	DDX59	ORPHA:2919
HP:0005922	Abnormal hand morphology	6926	TBX3	ORPHA:3138
HP:0005922	Abnormal hand morphology	6926	TBX3	OMIM:181450
HP:0005922	Abnormal hand morphology	84100	ARL6	OMIM:209900
HP:0005922	Abnormal hand morphology	84100	ARL6	ORPHA:110
HP:0005922	Abnormal hand morphology	79140	CCDC28B	OMIM:209900
HP:0005922	Abnormal hand morphology	582	BBS1	OMIM:209900
HP:0005922	Abnormal hand morphology	582	BBS1	ORPHA:110
HP:0005922	Abnormal hand morphology	51057	WDPCP	OMIM:217085
HP:0005922	Abnormal hand morphology	51057	WDPCP	ORPHA:110
HP:0005922	Abnormal hand morphology	285600	KIAA0825	OMIM:618498
HP:0005922	Abnormal hand morphology	5147	PDE6D	OMIM:615665
HP:0005922	Abnormal hand morphology	26005	C2CD3	OMIM:615948
HP:0005922	Abnormal hand morphology	26005	C2CD3	ORPHA:434179
HP:0005922	Abnormal hand morphology	26040	SETBP1	OMIM:269150
HP:0005922	Abnormal hand morphology	153241	CEP120	ORPHA:474
HP:0005922	Abnormal hand morphology	51626	DYNC2LI1	ORPHA:474
HP:0005922	Abnormal hand morphology	51626	DYNC2LI1	OMIM:617088
HP:0005922	Abnormal hand morphology	79809	TTC21B	ORPHA:474
HP:0005922	Abnormal hand morphology	92482	BBIP1	ORPHA:110
HP:0005922	Abnormal hand morphology	11020	IFT27	ORPHA:110
HP:0005922	Abnormal hand morphology	49855	SCAPER	ORPHA:110
HP:0005922	Abnormal hand morphology	4867	NPHP1	ORPHA:110
HP:0005922	Abnormal hand morphology	27241	BBS9	ORPHA:110
HP:0005922	Abnormal hand morphology	27241	BBS9	OMIM:615986
HP:0005922	Abnormal hand morphology	84984	CEP19	ORPHA:110
HP:0005922	Abnormal hand morphology	22954	TRIM32	ORPHA:110
HP:0005922	Abnormal hand morphology	79738	BBS10	ORPHA:110
HP:0005922	Abnormal hand morphology	123016	TTC8	ORPHA:110
HP:0005922	Abnormal hand morphology	583	BBS2	ORPHA:110
HP:0005922	Abnormal hand morphology	583	BBS2	OMIM:615981
HP:0005922	Abnormal hand morphology	585	BBS4	ORPHA:110
HP:0005922	Abnormal hand morphology	55212	BBS7	ORPHA:110
HP:0005922	Abnormal hand morphology	166379	BBS12	ORPHA:110
HP:0005922	Abnormal hand morphology	166379	BBS12	OMIM:615989
HP:0005922	Abnormal hand morphology	10806	SDCCAG8	ORPHA:110
HP:0005922	Abnormal hand morphology	157657	CFAP418	ORPHA:110
HP:0005922	Abnormal hand morphology	157657	CFAP418	OMIM:617406
HP:0005922	Abnormal hand morphology	129880	BBS5	ORPHA:110
HP:0005922	Abnormal hand morphology	80173	IFT74	ORPHA:110
HP:0005922	Abnormal hand morphology	79005	SCNM1	OMIM:620107
HP:0005922	Abnormal hand morphology	54499	TMCO1	OMIM:213980
HP:0005922	Abnormal hand morphology	2736	GLI2	OMIM:610829
HP:0005922	Abnormal hand morphology	51360	MBTPS2	OMIM:308205
HP:0005922	Abnormal hand morphology	51360	MBTPS2	ORPHA:85284
HP:0005922	Abnormal hand morphology	80210	ARMC9	OMIM:617622
HP:0005922	Abnormal hand morphology	9373	PLAA	ORPHA:521426
HP:0005922	Abnormal hand morphology	2316	FLNA	OMIM:304120
HP:0005922	Abnormal hand morphology	3930	LBR	OMIM:215140
HP:0005922	Abnormal hand morphology	51684	SUFU	OMIM:617757
HP:0005922	Abnormal hand morphology	257	ALX3	OMIM:136760
HP:0005922	Abnormal hand morphology	23288	IQCE	OMIM:617642
HP:0005922	Abnormal hand morphology	137392	CIBAR1	OMIM:618219
HP:0005922	Abnormal hand morphology	7700	ZNF141	OMIM:615226
HP:0005922	Abnormal hand morphology	9851	KIAA0753	OMIM:617127
HP:0005922	Abnormal hand morphology	7046	TGFBR1	OMIM:609192
HP:0005922	Abnormal hand morphology	255758	DYNLT2B	OMIM:617405
HP:0005922	Abnormal hand morphology	64840	PORCN	OMIM:305600
HP:0005922	Abnormal hand morphology	64840	PORCN	ORPHA:2092
HP:0005922	Abnormal hand morphology	6910	TBX5	ORPHA:392
HP:0005922	Abnormal hand morphology	3094	HINT1	ORPHA:324442
HP:0005922	Abnormal hand morphology	22880	MORC2	OMIM:616688
HP:0005922	Abnormal hand morphology	1001	CDH3	OMIM:225280
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:604292
HP:0005922	Abnormal hand morphology	8626	TP63	ORPHA:2440
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:103285
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:603543
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:605289
HP:0005922	Abnormal hand morphology	8626	TP63	ORPHA:1896
HP:0005922	Abnormal hand morphology	4047	LSS	ORPHA:2850
HP:0005922	Abnormal hand morphology	197	AHSG	ORPHA:2850
HP:0005922	Abnormal hand morphology	3694	ITGB6	ORPHA:2850
HP:0005922	Abnormal hand morphology	79581	SLC52A2	OMIM:614707
HP:0005922	Abnormal hand morphology	411	ARSB	OMIM:253200
HP:0005922	Abnormal hand morphology	9150	CTDP1	OMIM:604168
HP:0005922	Abnormal hand morphology	56704	JPH1	OMIM:607831
HP:0005922	Abnormal hand morphology	51776	MAP3K20	OMIM:616890
HP:0005922	Abnormal hand morphology	1750	DLX6	ORPHA:2440
HP:0005922	Abnormal hand morphology	7979	SEM1	ORPHA:2440
HP:0005922	Abnormal hand morphology	8945	BTRC	ORPHA:2440
HP:0005922	Abnormal hand morphology	58513	EPS15L1	ORPHA:2440
HP:0005922	Abnormal hand morphology	6468	FBXW4	ORPHA:2440
HP:0005922	Abnormal hand morphology	7480	WNT10B	ORPHA:2440
HP:0005922	Abnormal hand morphology	7480	WNT10B	OMIM:225300
HP:0005922	Abnormal hand morphology	1749	DLX5	ORPHA:2440
HP:0005922	Abnormal hand morphology	1749	DLX5	OMIM:183600
HP:0005922	Abnormal hand morphology	1749	DLX5	OMIM:220600
HP:0005922	Abnormal hand morphology	1717	DHCR7	ORPHA:818
HP:0005922	Abnormal hand morphology	9968	MED12	OMIM:305450
HP:0005922	Abnormal hand morphology	79158	GNPTAB	OMIM:252500
HP:0005922	Abnormal hand morphology	79158	GNPTAB	OMIM:252600
HP:0005922	Abnormal hand morphology	3516	RBPJ	ORPHA:974
HP:0005922	Abnormal hand morphology	4851	NOTCH1	ORPHA:974
HP:0005922	Abnormal hand morphology	57514	ARHGAP31	ORPHA:974
HP:0005922	Abnormal hand morphology	57572	DOCK6	ORPHA:974
HP:0005922	Abnormal hand morphology	285203	EOGT	ORPHA:974
HP:0005922	Abnormal hand morphology	54567	DLL4	ORPHA:974
HP:0005922	Abnormal hand morphology	8888	MCM3AP	OMIM:618124
HP:0005922	Abnormal hand morphology	3423	IDS	OMIM:309900
HP:0005922	Abnormal hand morphology	3664	IRF6	ORPHA:1300
HP:0005922	Abnormal hand morphology	2261	FGFR3	ORPHA:1860
HP:0005922	Abnormal hand morphology	374969	SVBP	OMIM:618569
HP:0005922	Abnormal hand morphology	3295	HSD17B4	OMIM:261515
HP:0005922	Abnormal hand morphology	7476	WNT7A	OMIM:276820
HP:0005922	Abnormal hand morphology	1509	CTSD	OMIM:610127
HP:0005922	Abnormal hand morphology	64359	NXN	ORPHA:1507
HP:0005922	Abnormal hand morphology	4920	ROR2	ORPHA:1507
HP:0005922	Abnormal hand morphology	4313	MMP2	OMIM:259600
HP:0005922	Abnormal hand morphology	2260	FGFR1	ORPHA:2117
HP:0005922	Abnormal hand morphology	10397	NDRG1	ORPHA:99950
HP:0005922	Abnormal hand morphology	6197	RPS6KA3	ORPHA:192
HP:0005922	Abnormal hand morphology	6197	RPS6KA3	ORPHA:276630
HP:0005922	Abnormal hand morphology	8925	HERC1	OMIM:617011
HP:0005922	Abnormal hand morphology	5447	POR	OMIM:201750
HP:0005922	Abnormal hand morphology	23512	SUZ12	OMIM:618786
HP:0005922	Abnormal hand morphology	23512	SUZ12	ORPHA:3447
HP:0005922	Abnormal hand morphology	9158	FIBP	ORPHA:500095
HP:0005922	Abnormal hand morphology	9158	FIBP	OMIM:617107
HP:0005922	Abnormal hand morphology	26580	BSCL2	OMIM:269700
HP:0005922	Abnormal hand morphology	26580	BSCL2	ORPHA:528
HP:0005922	Abnormal hand morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005922	Abnormal hand morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005922	Abnormal hand morphology	3643	INSR	ORPHA:508
HP:0005922	Abnormal hand morphology	3643	INSR	OMIM:246200
HP:0005922	Abnormal hand morphology	5189	PEX1	ORPHA:3220
HP:0005922	Abnormal hand morphology	5190	PEX6	ORPHA:3220
HP:0005922	Abnormal hand morphology	85358	SHANK3	OMIM:606232
HP:0005922	Abnormal hand morphology	85358	SHANK3	ORPHA:48652
HP:0005922	Abnormal hand morphology	11128	POLR3A	OMIM:264090
HP:0005922	Abnormal hand morphology	64324	NSD1	ORPHA:821
HP:0005922	Abnormal hand morphology	64324	NSD1	OMIM:117550
HP:0005922	Abnormal hand morphology	64324	NSD1	ORPHA:3447
HP:0005922	Abnormal hand morphology	29072	SETD2	ORPHA:821
HP:0005922	Abnormal hand morphology	10297	APC2	ORPHA:821
HP:0005922	Abnormal hand morphology	55690	PACS1	OMIM:615009
HP:0005922	Abnormal hand morphology	4221	MEN1	ORPHA:99725
HP:0005922	Abnormal hand morphology	9049	AIP	ORPHA:99725
HP:0005922	Abnormal hand morphology	9049	AIP	ORPHA:963
HP:0005922	Abnormal hand morphology	8242	KDM5C	OMIM:300534
HP:0005922	Abnormal hand morphology	440	ASNS	OMIM:615574
HP:0005922	Abnormal hand morphology	9487	PIGL	OMIM:280000
HP:0005922	Abnormal hand morphology	2146	EZH2	OMIM:277590
HP:0005922	Abnormal hand morphology	2146	EZH2	ORPHA:3447
HP:0005922	Abnormal hand morphology	5468	PPARG	ORPHA:528
HP:0005922	Abnormal hand morphology	10555	AGPAT2	ORPHA:528
HP:0005922	Abnormal hand morphology	10555	AGPAT2	OMIM:608594
HP:0005922	Abnormal hand morphology	284119	CAVIN1	ORPHA:528
HP:0005922	Abnormal hand morphology	2353	FOS	ORPHA:528
HP:0005922	Abnormal hand morphology	857	CAV1	ORPHA:528
HP:0005922	Abnormal hand morphology	83550	GPR101	ORPHA:963
HP:0005922	Abnormal hand morphology	8726	EED	ORPHA:3447
HP:0005922	Abnormal hand morphology	8726	EED	OMIM:617561
HP:0005922	Abnormal hand morphology	6390	SDHB	OMIM:606764
HP:0005922	Abnormal hand morphology	6391	SDHC	OMIM:606764
HP:0005922	Abnormal hand morphology	3815	KIT	OMIM:606764
HP:0005922	Abnormal hand morphology	4763	NF1	ORPHA:363700
HP:0005922	Abnormal hand morphology	4763	NF1	ORPHA:97685
HP:0005922	Abnormal hand morphology	372	ARCN1	OMIM:617164
HP:0005922	Abnormal hand morphology	57167	SALL4	ORPHA:233
HP:0005922	Abnormal hand morphology	57167	SALL4	ORPHA:959
HP:0005922	Abnormal hand morphology	57167	SALL4	ORPHA:2307
HP:0005922	Abnormal hand morphology	9935	MAFB	ORPHA:233
HP:0005922	Abnormal hand morphology	1123	CHN1	ORPHA:233
HP:0005922	Abnormal hand morphology	2137	EXTL3	ORPHA:508533
HP:0005922	Abnormal hand morphology	22827	PUF60	ORPHA:508498
HP:0005922	Abnormal hand morphology	65250	CPLANE1	OMIM:277170
HP:0005922	Abnormal hand morphology	6608	SMO	OMIM:601707
HP:0005922	Abnormal hand morphology	6608	SMO	ORPHA:1553
HP:0005922	Abnormal hand morphology	4750	NEK1	OMIM:263520
HP:0005922	Abnormal hand morphology	2737	GLI3	OMIM:175700
HP:0005922	Abnormal hand morphology	2737	GLI3	ORPHA:380
HP:0005922	Abnormal hand morphology	2737	GLI3	OMIM:174200
HP:0005922	Abnormal hand morphology	64327	LMBR1	ORPHA:2378
HP:0005922	Abnormal hand morphology	64327	LMBR1	OMIM:174500
HP:0005922	Abnormal hand morphology	55027	HEATR3	OMIM:620072
HP:0005922	Abnormal hand morphology	6299	SALL1	OMIM:107480
HP:0005922	Abnormal hand morphology	6299	SALL1	ORPHA:857
HP:0005922	Abnormal hand morphology	55112	DYNC2I1	ORPHA:93271
HP:0005922	Abnormal hand morphology	57560	IFT80	ORPHA:93271
HP:0005922	Abnormal hand morphology	57539	WDR35	ORPHA:93271
HP:0005922	Abnormal hand morphology	79659	DYNC2H1	ORPHA:93271
HP:0005922	Abnormal hand morphology	89891	DYNC2I2	ORPHA:93271
HP:0005922	Abnormal hand morphology	374879	ZNF699	OMIM:619488
HP:0005922	Abnormal hand morphology	374654	KIF7	OMIM:200990
HP:0005922	Abnormal hand morphology	8318	CDC45	OMIM:617063
HP:0005922	Abnormal hand morphology	51339	DACT1	ORPHA:857
HP:0005922	Abnormal hand morphology	2177	FANCD2	OMIM:227646
HP:0005922	Abnormal hand morphology	727857	BHLHA9	ORPHA:3329
HP:0005922	Abnormal hand morphology	23133	PHF8	ORPHA:85287
HP:0005922	Abnormal hand morphology	8481	OFD1	ORPHA:2750
HP:0005922	Abnormal hand morphology	219844	HYLS1	OMIM:236680
HP:0005922	Abnormal hand morphology	26123	TCTN3	ORPHA:2753
HP:0005922	Abnormal hand morphology	26123	TCTN3	ORPHA:564
HP:0005922	Abnormal hand morphology	2697	GJA1	ORPHA:2710
HP:0005922	Abnormal hand morphology	3239	HOXD13	ORPHA:887
HP:0005922	Abnormal hand morphology	7020	TFAP2A	OMIM:113620
HP:0005922	Abnormal hand morphology	7020	TFAP2A	ORPHA:1297
HP:0005922	Abnormal hand morphology	84314	TMEM107	ORPHA:564
HP:0005922	Abnormal hand morphology	79867	TCTN2	ORPHA:564
HP:0005922	Abnormal hand morphology	80776	B9D2	ORPHA:564
HP:0005922	Abnormal hand morphology	79600	TCTN1	ORPHA:564
HP:0005922	Abnormal hand morphology	57096	RPGRIP1	ORPHA:564
HP:0005922	Abnormal hand morphology	79848	CSPP1	ORPHA:564
HP:0005922	Abnormal hand morphology	80184	CEP290	ORPHA:564
HP:0005922	Abnormal hand morphology	51259	TMEM216	ORPHA:564
HP:0005922	Abnormal hand morphology	57545	CC2D2A	ORPHA:564
HP:0005922	Abnormal hand morphology	79583	TMEM231	ORPHA:564
HP:0005922	Abnormal hand morphology	91147	TMEM67	ORPHA:564
HP:0005922	Abnormal hand morphology	79770	TXNDC15	ORPHA:564
HP:0005922	Abnormal hand morphology	27077	B9D1	ORPHA:564
HP:0005922	Abnormal hand morphology	23322	RPGRIP1L	ORPHA:564
HP:0005922	Abnormal hand morphology	54903	MKS1	ORPHA:564
HP:0005922	Abnormal hand morphology	65062	TMEM237	ORPHA:564
HP:0005922	Abnormal hand morphology	10815	CPLX1	ORPHA:280
HP:0005922	Abnormal hand morphology	10815	CPLX1	OMIM:194190
HP:0005922	Abnormal hand morphology	54872	PIGG	ORPHA:280
HP:0005922	Abnormal hand morphology	7469	NELFA	ORPHA:280
HP:0005922	Abnormal hand morphology	1487	CTBP1	ORPHA:280
HP:0005922	Abnormal hand morphology	1487	CTBP1	OMIM:194190
HP:0005922	Abnormal hand morphology	3954	LETM1	ORPHA:280
HP:0005922	Abnormal hand morphology	3954	LETM1	OMIM:194190
HP:0005922	Abnormal hand morphology	7468	NSD2	ORPHA:280
HP:0005922	Abnormal hand morphology	7468	NSD2	OMIM:194190
HP:0005922	Abnormal hand morphology	2735	GLI1	OMIM:174400
HP:0005922	Abnormal hand morphology	53834	FGFRL1	OMIM:194190
HP:0005922	Abnormal hand morphology	9343	EFTUD2	OMIM:610536
HP:0005922	Abnormal hand morphology	9343	EFTUD2	ORPHA:79113
HP:0005922	Abnormal hand morphology	2263	FGFR2	OMIM:101200
HP:0005922	Abnormal hand morphology	54332	GDAP1	OMIM:607706
HP:0005922	Abnormal hand morphology	54332	GDAP1	OMIM:214400
HP:0005922	Abnormal hand morphology	54332	GDAP1	OMIM:608340
HP:0005922	Abnormal hand morphology	5376	PMP22	OMIM:118220
HP:0005922	Abnormal hand morphology	5376	PMP22	OMIM:145900
HP:0005922	Abnormal hand morphology	4747	NEFL	OMIM:607684
HP:0005922	Abnormal hand morphology	3315	HSPB1	OMIM:606595
HP:0005922	Abnormal hand morphology	4359	MPZ	OMIM:118200
HP:0005922	Abnormal hand morphology	4359	MPZ	OMIM:145900
HP:0005922	Abnormal hand morphology	1959	EGR2	OMIM:145900
HP:0005922	Abnormal hand morphology	57716	PRX	OMIM:145900
HP:0005922	Abnormal hand morphology	4358	MPV17	OMIM:618400
HP:0005922	Abnormal hand morphology	81846	SBF2	OMIM:604563
HP:0005922	Abnormal hand morphology	157570	ESCO2	OMIM:268300
HP:0005922	Abnormal hand morphology	9401	RECQL4	ORPHA:1225
HP:0005922	Abnormal hand morphology	25836	NIPBL	OMIM:122470
HP:0005922	Abnormal hand morphology	6154	RPL26	OMIM:614900
HP:0005922	Abnormal hand morphology	64093	SMOC1	OMIM:206920
HP:0005922	Abnormal hand morphology	64093	SMOC1	ORPHA:1106
HP:0005922	Abnormal hand morphology	10262	SF3B4	ORPHA:1788
HP:0005922	Abnormal hand morphology	7169	TPM2	OMIM:108120
HP:0005922	Abnormal hand morphology	3187	HNRNPH1	OMIM:620083
HP:0005922	Abnormal hand morphology	8506	CNTNAP1	OMIM:618186
HP:0005922	Abnormal hand morphology	1020	CDK5	OMIM:616342
HP:0005922	Abnormal hand morphology	56006	SMG9	OMIM:616920
HP:0005922	Abnormal hand morphology	2733	GLE1	OMIM:611890
HP:0005922	Abnormal hand morphology	1861	TOR1A	OMIM:618947
HP:0005922	Abnormal hand morphology	55681	SCYL2	OMIM:618766
HP:0005922	Abnormal hand morphology	84942	WDR73	OMIM:251300
HP:0005922	Abnormal hand morphology	7841	MOGS	OMIM:606056
HP:0005922	Abnormal hand morphology	4703	NEB	OMIM:256030
HP:0005922	Abnormal hand morphology	23345	SYNE1	ORPHA:319332
HP:0005922	Abnormal hand morphology	23299	BICD2	OMIM:618291
HP:0005922	Abnormal hand morphology	2317	FLNB	ORPHA:56305
HP:0005922	Abnormal hand morphology	2898	GRIK2	OMIM:619580
HP:0005922	Abnormal hand morphology	54880	BCOR	OMIM:300166
HP:0005922	Abnormal hand morphology	57498	KIDINS220	OMIM:619501
HP:0005922	Abnormal hand morphology	80816	ASXL3	OMIM:615485
HP:0005922	Abnormal hand morphology	6536	SLC6A9	OMIM:617301
HP:0005922	Abnormal hand morphology	51741	WWOX	OMIM:616211
HP:0005922	Abnormal hand morphology	84162	BLTP1	OMIM:617822
HP:0005922	Abnormal hand morphology	667	DST	OMIM:614653
HP:0005922	Abnormal hand morphology	2782	GNB1	OMIM:616973
HP:0005922	Abnormal hand morphology	3897	L1CAM	ORPHA:2466
HP:0005922	Abnormal hand morphology	529	ATP6V1E1	OMIM:617402
HP:0005922	Abnormal hand morphology	4654	MYOD1	OMIM:618975
HP:0005922	Abnormal hand morphology	54676	GTPBP2	OMIM:617988
HP:0005922	Abnormal hand morphology	4137	MAPT	ORPHA:240103
HP:0005922	Abnormal hand morphology	10716	TBR1	ORPHA:1617
HP:0005922	Abnormal hand morphology	3736	KCNA1	ORPHA:37612
HP:0005922	Abnormal hand morphology	2131	EXT1	ORPHA:321
HP:0005922	Abnormal hand morphology	1836	SLC26A2	ORPHA:56304
HP:0005922	Abnormal hand morphology	4593	MUSK	OMIM:208150
HP:0005922	Abnormal hand morphology	7136	TNNI2	OMIM:601680
HP:0005922	Abnormal hand morphology	8720	MBTPS1	OMIM:618392
HP:0005922	Abnormal hand morphology	55325	UFSP2	OMIM:617974
HP:0005922	Abnormal hand morphology	2588	GALNS	OMIM:253000
HP:0005922	Abnormal hand morphology	7030	TFE3	OMIM:301066
HP:0005922	Abnormal hand morphology	2720	GLB1	ORPHA:79255
HP:0005922	Abnormal hand morphology	81794	ADAMTS10	OMIM:277600
HP:0005922	Abnormal hand morphology	23019	CNOT1	OMIM:618500
HP:0005922	Abnormal hand morphology	5832	ALDH18A1	OMIM:601162
HP:0005922	Abnormal hand morphology	8517	IKBKG	ORPHA:464
HP:0005922	Abnormal hand morphology	3909	LAMA3	ORPHA:79404
HP:0005922	Abnormal hand morphology	3918	LAMC2	ORPHA:79404
HP:0005922	Abnormal hand morphology	3914	LAMB3	ORPHA:79404
HP:0005922	Abnormal hand morphology	1308	COL17A1	ORPHA:79406
HP:0005922	Abnormal hand morphology	1308	COL17A1	ORPHA:251393
HP:0005922	Abnormal hand morphology	4312	MMP1	ORPHA:79408
HP:0005922	Abnormal hand morphology	4312	MMP1	OMIM:226600
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79408
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79409
HP:0005922	Abnormal hand morphology	1294	COL7A1	OMIM:226600
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79410
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79411
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:89842
HP:0005922	Abnormal hand morphology	3852	KRT5	OMIM:619599
HP:0005922	Abnormal hand morphology	3691	ITGB4	ORPHA:251393
HP:0005922	Abnormal hand morphology	54809	SAMD9	OMIM:617053
HP:0005922	Abnormal hand morphology	50964	SOST	OMIM:269500
HP:0005922	Abnormal hand morphology	11253	MAN1B1	ORPHA:397941
HP:0005922	Abnormal hand morphology	11253	MAN1B1	OMIM:614202
HP:0005922	Abnormal hand morphology	340533	NEXMIF	OMIM:300912
HP:0005922	Abnormal hand morphology	1139	CHRNA7	ORPHA:199318
HP:0005922	Abnormal hand morphology	1139	CHRNA7	OMIM:612001
HP:0005922	Abnormal hand morphology	2132	EXT2	OMIM:616682
HP:0005922	Abnormal hand morphology	23135	KDM6B	OMIM:618505
HP:0005922	Abnormal hand morphology	6659	SOX4	OMIM:618506
HP:0005922	Abnormal hand morphology	1947	EFNB1	ORPHA:1520
HP:0005922	Abnormal hand morphology	1947	EFNB1	OMIM:304110
HP:0005922	Abnormal hand morphology	4010	LMX1B	ORPHA:2614
HP:0005922	Abnormal hand morphology	4010	LMX1B	OMIM:161200
HP:0005922	Abnormal hand morphology	10054	UBA2	OMIM:619959
HP:0005922	Abnormal hand morphology	51126	NAA20	OMIM:619717
HP:0005922	Abnormal hand morphology	2972	BRF1	OMIM:616202
HP:0005922	Abnormal hand morphology	9820	CUL7	ORPHA:2616
HP:0005922	Abnormal hand morphology	9820	CUL7	OMIM:273750
HP:0005922	Abnormal hand morphology	23363	OBSL1	ORPHA:2616
HP:0005922	Abnormal hand morphology	83987	CCDC8	ORPHA:2616
HP:0005922	Abnormal hand morphology	83987	CCDC8	OMIM:614205
HP:0005922	Abnormal hand morphology	7021	TFAP2B	OMIM:169100
HP:0005922	Abnormal hand morphology	7021	TFAP2B	ORPHA:46627
HP:0005922	Abnormal hand morphology	7021	TFAP2B	OMIM:617035
HP:0005922	Abnormal hand morphology	3481	IGF2	ORPHA:231140
HP:0005922	Abnormal hand morphology	3481	IGF2	ORPHA:231144
HP:0005922	Abnormal hand morphology	3481	IGF2	OMIM:616489
HP:0005922	Abnormal hand morphology	3481	IGF2	OMIM:180860
HP:0005922	Abnormal hand morphology	3481	IGF2	ORPHA:397590
HP:0005922	Abnormal hand morphology	283120	H19	ORPHA:231140
HP:0005922	Abnormal hand morphology	283120	H19	ORPHA:231144
HP:0005922	Abnormal hand morphology	197131	UBR1	OMIM:243800
HP:0005922	Abnormal hand morphology	5932	RBBP8	OMIM:606744
HP:0005922	Abnormal hand morphology	5932	RBBP8	ORPHA:808
HP:0005922	Abnormal hand morphology	3021	H3-3B	OMIM:619721
HP:0005922	Abnormal hand morphology	126792	B3GALT6	ORPHA:2725
HP:0005922	Abnormal hand morphology	4286	MITF	OMIM:617306
HP:0005922	Abnormal hand morphology	23384	SPECC1L	ORPHA:1519
HP:0005922	Abnormal hand morphology	112752	IFT43	ORPHA:1515
HP:0005922	Abnormal hand morphology	51098	IFT52	ORPHA:1515
HP:0005922	Abnormal hand morphology	55764	IFT122	ORPHA:1515
HP:0005922	Abnormal hand morphology	57728	WDR19	ORPHA:1515
HP:0005922	Abnormal hand morphology	55636	CHD7	ORPHA:138
HP:0005922	Abnormal hand morphology	9723	SEMA3E	ORPHA:138
HP:0005922	Abnormal hand morphology	90	ACVR1	OMIM:135100
HP:0005922	Abnormal hand morphology	90	ACVR1	ORPHA:337
HP:0005922	Abnormal hand morphology	3190	HNRNPK	OMIM:616580
HP:0005922	Abnormal hand morphology	10606	PAICS	OMIM:619859
HP:0005922	Abnormal hand morphology	1009	CDH11	OMIM:619736
HP:0005922	Abnormal hand morphology	652	BMP4	OMIM:607932
HP:0005922	Abnormal hand morphology	4297	KMT2A	ORPHA:319182
HP:0005922	Abnormal hand morphology	4297	KMT2A	OMIM:605130
HP:0005922	Abnormal hand morphology	1301	COL11A1	OMIM:228520
HP:0005922	Abnormal hand morphology	1301	COL11A1	OMIM:154780
HP:0005922	Abnormal hand morphology	23327	NEDD4L	OMIM:617201
HP:0005922	Abnormal hand morphology	7291	TWIST1	OMIM:101400
HP:0005922	Abnormal hand morphology	7291	TWIST1	ORPHA:794
HP:0005922	Abnormal hand morphology	2783	GNB2	OMIM:619503
HP:0005922	Abnormal hand morphology	3981	LIG4	ORPHA:235
HP:0005922	Abnormal hand morphology	3981	LIG4	ORPHA:99812
HP:0005922	Abnormal hand morphology	3981	LIG4	OMIM:606593
HP:0005922	Abnormal hand morphology	54888	NSUN2	ORPHA:235
HP:0005922	Abnormal hand morphology	1182	CLCN3	OMIM:619512
HP:0005922	Abnormal hand morphology	85301	COL27A1	OMIM:615155
HP:0005922	Abnormal hand morphology	5048	PAFAH1B1	ORPHA:217385
HP:0005922	Abnormal hand morphology	5048	PAFAH1B1	ORPHA:531
HP:0005922	Abnormal hand morphology	7531	YWHAE	ORPHA:217385
HP:0005922	Abnormal hand morphology	7531	YWHAE	ORPHA:531
HP:0005922	Abnormal hand morphology	2121	EVC	OMIM:193530
HP:0005922	Abnormal hand morphology	2121	EVC	ORPHA:952
HP:0005922	Abnormal hand morphology	132884	EVC2	OMIM:193530
HP:0005922	Abnormal hand morphology	132884	EVC2	ORPHA:952
HP:0005922	Abnormal hand morphology	8364	H4C3	OMIM:619758
HP:0005922	Abnormal hand morphology	5590	PRKCZ	ORPHA:1606
HP:0005922	Abnormal hand morphology	2563	GABRD	ORPHA:1606
HP:0005922	Abnormal hand morphology	23013	SPEN	ORPHA:1606
HP:0005922	Abnormal hand morphology	8510	MMP23B	ORPHA:1606
HP:0005922	Abnormal hand morphology	7798	LUZP1	ORPHA:1606
HP:0005922	Abnormal hand morphology	6497	SKI	ORPHA:1606
HP:0005922	Abnormal hand morphology	10630	PDPN	ORPHA:1606
HP:0005922	Abnormal hand morphology	3339	HSPG2	ORPHA:1606
HP:0005922	Abnormal hand morphology	10277	UBE4B	ORPHA:1606
HP:0005922	Abnormal hand morphology	8514	KCNAB2	ORPHA:1606
HP:0005922	Abnormal hand morphology	473	RERE	ORPHA:1606
HP:0005922	Abnormal hand morphology	473	RERE	OMIM:616975
HP:0005922	Abnormal hand morphology	63976	PRDM16	ORPHA:1606
HP:0005922	Abnormal hand morphology	54897	CASZ1	ORPHA:1606
HP:0005922	Abnormal hand morphology	6134	RPL10	ORPHA:459070
HP:0005922	Abnormal hand morphology	6134	RPL10	OMIM:300998
HP:0005922	Abnormal hand morphology	7750	ZMYM2	OMIM:619522
HP:0005922	Abnormal hand morphology	4849	CNOT3	OMIM:618672
HP:0005922	Abnormal hand morphology	6942	TCF20	OMIM:618430
HP:0005922	Abnormal hand morphology	641	BLM	OMIM:210900
HP:0005922	Abnormal hand morphology	57492	ARID1B	ORPHA:251056
HP:0005922	Abnormal hand morphology	57492	ARID1B	OMIM:135900
HP:0005922	Abnormal hand morphology	63895	PIEZO2	ORPHA:376
HP:0005922	Abnormal hand morphology	23314	SATB2	ORPHA:576283
HP:0005922	Abnormal hand morphology	23314	SATB2	ORPHA:251028
HP:0005922	Abnormal hand morphology	23314	SATB2	ORPHA:251019
HP:0005922	Abnormal hand morphology	2239	GPC4	ORPHA:373
HP:0005922	Abnormal hand morphology	2239	GPC4	ORPHA:2662
HP:0005922	Abnormal hand morphology	2719	GPC3	ORPHA:373
HP:0005922	Abnormal hand morphology	23162	MAPK8IP3	OMIM:618443
HP:0005922	Abnormal hand morphology	8200	GDF5	OMIM:615298
HP:0005922	Abnormal hand morphology	8200	GDF5	OMIM:112600
HP:0005922	Abnormal hand morphology	8200	GDF5	ORPHA:93396
HP:0005922	Abnormal hand morphology	8200	GDF5	ORPHA:3250
HP:0005922	Abnormal hand morphology	8200	GDF5	ORPHA:93384
HP:0005922	Abnormal hand morphology	8200	GDF5	ORPHA:93388
HP:0005922	Abnormal hand morphology	8200	GDF5	OMIM:113100
HP:0005922	Abnormal hand morphology	23483	TGDS	OMIM:616145
HP:0005922	Abnormal hand morphology	23483	TGDS	ORPHA:1388
HP:0005922	Abnormal hand morphology	57479	PRR12	OMIM:619539
HP:0005922	Abnormal hand morphology	79087	ALG12	ORPHA:79324
HP:0005922	Abnormal hand morphology	6473	SHOX	ORPHA:240
HP:0005922	Abnormal hand morphology	1387	CREBBP	OMIM:618332
HP:0005922	Abnormal hand morphology	1387	CREBBP	OMIM:180849
HP:0005922	Abnormal hand morphology	26100	WIPI2	OMIM:618453
HP:0005922	Abnormal hand morphology	10533	ATG7	OMIM:619422
HP:0005922	Abnormal hand morphology	8295	TRRAP	OMIM:618454
HP:0005922	Abnormal hand morphology	9742	IFT140	OMIM:266920
HP:0005922	Abnormal hand morphology	7227	TRPS1	ORPHA:77258
HP:0005922	Abnormal hand morphology	9949	AMMECR1	OMIM:300990
HP:0005922	Abnormal hand morphology	3479	IGF1	ORPHA:73272
HP:0005922	Abnormal hand morphology	3479	IGF1	OMIM:608747
HP:0005922	Abnormal hand morphology	658	BMPR1B	OMIM:112600
HP:0005922	Abnormal hand morphology	658	BMPR1B	ORPHA:93396
HP:0005922	Abnormal hand morphology	658	BMPR1B	ORPHA:93384
HP:0005922	Abnormal hand morphology	658	BMPR1B	ORPHA:93388
HP:0005922	Abnormal hand morphology	658	BMPR1B	OMIM:616849
HP:0005922	Abnormal hand morphology	650	BMP2	OMIM:112600
HP:0005922	Abnormal hand morphology	650	BMP2	ORPHA:93396
HP:0005922	Abnormal hand morphology	650	BMP2	OMIM:617877
HP:0005922	Abnormal hand morphology	6477	SIAH1	OMIM:619314
HP:0005922	Abnormal hand morphology	8473	OGT	OMIM:300997
HP:0005922	Abnormal hand morphology	10785	WDR4	OMIM:618347
HP:0005922	Abnormal hand morphology	1798	DPAGT1	OMIM:608093
HP:0005922	Abnormal hand morphology	55869	HDAC8	OMIM:300882
HP:0005922	Abnormal hand morphology	55869	HDAC8	ORPHA:199
HP:0005922	Abnormal hand morphology	117581	TWIST2	OMIM:200110
HP:0005922	Abnormal hand morphology	117581	TWIST2	OMIM:209885
HP:0005922	Abnormal hand morphology	23030	KDM4B	OMIM:619320
HP:0005922	Abnormal hand morphology	9126	SMC3	OMIM:610759
HP:0005922	Abnormal hand morphology	9126	SMC3	ORPHA:199
HP:0005922	Abnormal hand morphology	1725	DHPS	OMIM:618480
HP:0005922	Abnormal hand morphology	55777	MBD5	OMIM:156200
HP:0005922	Abnormal hand morphology	55777	MBD5	ORPHA:228402
HP:0005922	Abnormal hand morphology	5980	REV3L	ORPHA:570
HP:0005922	Abnormal hand morphology	23129	PLXND1	ORPHA:570
HP:0005922	Abnormal hand morphology	4784	NFIX	OMIM:602535
HP:0005922	Abnormal hand morphology	4998	ORC1	OMIM:224690
HP:0005922	Abnormal hand morphology	4998	ORC1	ORPHA:2554
HP:0005922	Abnormal hand morphology	4052	LTBP1	OMIM:619451
HP:0005922	Abnormal hand morphology	8260	NAA10	OMIM:300855
HP:0005922	Abnormal hand morphology	8260	NAA10	ORPHA:568
HP:0005922	Abnormal hand morphology	9496	TBX4	ORPHA:261279
HP:0005922	Abnormal hand morphology	8091	HMGA2	ORPHA:94063
HP:0005922	Abnormal hand morphology	8091	HMGA2	ORPHA:397590
HP:0005922	Abnormal hand morphology	23592	LEMD3	ORPHA:94063
HP:0005922	Abnormal hand morphology	164	AP1G1	OMIM:619467
HP:0005922	Abnormal hand morphology	5283	PIGH	OMIM:618010
HP:0005922	Abnormal hand morphology	50801	KCNK4	OMIM:618381
HP:0005922	Abnormal hand morphology	9757	KMT2B	ORPHA:589618
HP:0005922	Abnormal hand morphology	4613	MYCN	ORPHA:391641
HP:0005922	Abnormal hand morphology	57003	CCDC47	OMIM:618268
HP:0005922	Abnormal hand morphology	8812	CCNK	OMIM:618147
HP:0005922	Abnormal hand morphology	5977	DPF2	OMIM:618027
HP:0005922	Abnormal hand morphology	29895	MYL11	OMIM:619110
HP:0005922	Abnormal hand morphology	94005	PIGS	OMIM:618143
HP:0005922	Abnormal hand morphology	145173	B3GLCT	OMIM:261540
HP:0005922	Abnormal hand morphology	145173	B3GLCT	ORPHA:709
HP:0005922	Abnormal hand morphology	2033	EP300	OMIM:180849
HP:0005922	Abnormal hand morphology	92002	CCNQ	OMIM:300707
HP:0005922	Abnormal hand morphology	92002	CCNQ	ORPHA:140952
HP:0005922	Abnormal hand morphology	285590	SH3PXD2B	ORPHA:137834
HP:0005922	Abnormal hand morphology	80036	TRPM3	OMIM:620224
HP:0005922	Abnormal hand morphology	526	ATP6V1B2	ORPHA:79500
HP:0005922	Abnormal hand morphology	57465	TBC1D24	ORPHA:79500
HP:0005922	Abnormal hand morphology	57465	TBC1D24	OMIM:220500
HP:0005922	Abnormal hand morphology	5728	PTEN	ORPHA:744
HP:0005922	Abnormal hand morphology	207	AKT1	ORPHA:744
HP:0005922	Abnormal hand morphology	2887	GRB10	ORPHA:96182
HP:0005922	Abnormal hand morphology	1457	CSNK2A1	OMIM:617062
HP:0005922	Abnormal hand morphology	7204	TRIO	OMIM:617061
HP:0005922	Abnormal hand morphology	7204	TRIO	ORPHA:476126
HP:0005922	Abnormal hand morphology	51715	RAB23	OMIM:201000
HP:0005922	Abnormal hand morphology	28952	CCDC22	OMIM:300963
HP:0005922	Abnormal hand morphology	90416	CCDC32	OMIM:619123
HP:0005922	Abnormal hand morphology	8450	CUL4B	ORPHA:85293
HP:0005922	Abnormal hand morphology	55717	WDR11	OMIM:620237
HP:0005922	Abnormal hand morphology	118924	FRA10AC1	OMIM:620113
HP:0005922	Abnormal hand morphology	22995	CEP152	OMIM:613823
HP:0005922	Abnormal hand morphology	22995	CEP152	ORPHA:808
HP:0005922	Abnormal hand morphology	3549	IHH	OMIM:112500
HP:0005922	Abnormal hand morphology	3549	IHH	ORPHA:93388
HP:0005922	Abnormal hand morphology	3090	HIC1	ORPHA:531
HP:0005922	Abnormal hand morphology	10436	EMG1	OMIM:211180
HP:0005922	Abnormal hand morphology	10436	EMG1	ORPHA:1270
HP:0005922	Abnormal hand morphology	23387	SIK3	OMIM:618162
HP:0005922	Abnormal hand morphology	10084	PQBP1	OMIM:309500
HP:0005922	Abnormal hand morphology	5745	PTH1R	OMIM:156400
HP:0005922	Abnormal hand morphology	89970	RSPRY1	ORPHA:457395
HP:0005922	Abnormal hand morphology	22800	RRAS2	ORPHA:648
HP:0005922	Abnormal hand morphology	867	CBL	ORPHA:648
HP:0005922	Abnormal hand morphology	8216	LZTR1	ORPHA:648
HP:0005922	Abnormal hand morphology	6016	RIT1	ORPHA:648
HP:0005922	Abnormal hand morphology	6237	RRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	5894	RAF1	ORPHA:648
HP:0005922	Abnormal hand morphology	22808	MRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	3845	KRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	200734	SPRED2	ORPHA:648
HP:0005922	Abnormal hand morphology	4893	NRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	6654	SOS1	ORPHA:648
HP:0005922	Abnormal hand morphology	6655	SOS2	ORPHA:648
HP:0005922	Abnormal hand morphology	5781	PTPN11	ORPHA:648
HP:0005922	Abnormal hand morphology	5922	RASA2	ORPHA:648
HP:0005922	Abnormal hand morphology	23522	KAT6B	ORPHA:3047
HP:0005922	Abnormal hand morphology	6913	TBX15	OMIM:260660
HP:0005922	Abnormal hand morphology	79023	NUP37	OMIM:618179
HP:0005922	Abnormal hand morphology	375056	MIA3	OMIM:619269
HP:0005922	Abnormal hand morphology	27161	AGO2	OMIM:619149
HP:0005922	Abnormal hand morphology	5567	PRKACB	OMIM:619143
HP:0005922	Abnormal hand morphology	221927	BRAT1	OMIM:618056
HP:0005922	Abnormal hand morphology	8823	FGF16	OMIM:309630
HP:0005922	Abnormal hand morphology	5518	PPP2R1A	ORPHA:457284
HP:0005922	Abnormal hand morphology	161742	SPRED1	ORPHA:137605
HP:0005922	Abnormal hand morphology	7337	UBE3A	ORPHA:238446
HP:0005922	Abnormal hand morphology	1832	DSP	ORPHA:158687
HP:0005922	Abnormal hand morphology	1832	DSP	OMIM:609638
HP:0005922	Abnormal hand morphology	3728	JUP	ORPHA:158687
HP:0005922	Abnormal hand morphology	23241	PACS2	OMIM:618067
HP:0005922	Abnormal hand morphology	26128	KIFBP	OMIM:609460
HP:0005922	Abnormal hand morphology	23556	PIGN	ORPHA:2059
HP:0005922	Abnormal hand morphology	5885	RAD21	OMIM:614701
HP:0005922	Abnormal hand morphology	5885	RAD21	ORPHA:199
HP:0005922	Abnormal hand morphology	673	BRAF	OMIM:115150
HP:0005922	Abnormal hand morphology	7518	XRCC4	ORPHA:99812
HP:0005922	Abnormal hand morphology	3209	HOXA13	OMIM:140000
HP:0005922	Abnormal hand morphology	3209	HOXA13	ORPHA:2438
HP:0005922	Abnormal hand morphology	8854	ALDH1A2	OMIM:620025
HP:0005922	Abnormal hand morphology	10274	STAG1	ORPHA:502434
HP:0005922	Abnormal hand morphology	9241	NOG	ORPHA:3250
HP:0005922	Abnormal hand morphology	9241	NOG	OMIM:186500
HP:0005922	Abnormal hand morphology	613	BCR	ORPHA:261330
HP:0005922	Abnormal hand morphology	1399	CRKL	ORPHA:261330
HP:0005922	Abnormal hand morphology	5594	MAPK1	ORPHA:261330
HP:0005922	Abnormal hand morphology	89910	UBE3B	OMIM:244450
HP:0005922	Abnormal hand morphology	2314	FLII	ORPHA:819
HP:0005922	Abnormal hand morphology	23096	IQSEC2	ORPHA:819
HP:0005922	Abnormal hand morphology	10743	RAI1	ORPHA:819
HP:0005922	Abnormal hand morphology	10522	DEAF1	ORPHA:819
HP:0005922	Abnormal hand morphology	150468	CKAP2L	ORPHA:3255
HP:0005922	Abnormal hand morphology	6595	SMARCA2	OMIM:619293
HP:0005922	Abnormal hand morphology	672	BRCA1	ORPHA:84
HP:0005922	Abnormal hand morphology	10459	MAD2L2	ORPHA:84
HP:0005922	Abnormal hand morphology	7516	XRCC2	ORPHA:84
HP:0005922	Abnormal hand morphology	29089	UBE2T	ORPHA:84
HP:0005922	Abnormal hand morphology	675	BRCA2	ORPHA:84
HP:0005922	Abnormal hand morphology	55120	FANCL	ORPHA:84
HP:0005922	Abnormal hand morphology	2175	FANCA	ORPHA:84
HP:0005922	Abnormal hand morphology	2187	FANCB	ORPHA:84
HP:0005922	Abnormal hand morphology	2176	FANCC	ORPHA:84
HP:0005922	Abnormal hand morphology	2178	FANCE	ORPHA:84
HP:0005922	Abnormal hand morphology	2188	FANCF	ORPHA:84
HP:0005922	Abnormal hand morphology	2189	FANCG	ORPHA:84
HP:0005922	Abnormal hand morphology	5888	RAD51	ORPHA:84
HP:0005922	Abnormal hand morphology	5889	RAD51C	ORPHA:84
HP:0005922	Abnormal hand morphology	55159	RFWD3	ORPHA:84
HP:0005922	Abnormal hand morphology	83990	BRIP1	ORPHA:84
HP:0005922	Abnormal hand morphology	57697	FANCM	ORPHA:84
HP:0005922	Abnormal hand morphology	79728	PALB2	ORPHA:84
HP:0005922	Abnormal hand morphology	84464	SLX4	ORPHA:84
HP:0005922	Abnormal hand morphology	2072	ERCC4	ORPHA:84
HP:0005922	Abnormal hand morphology	55215	FANCI	ORPHA:84
HP:0005922	Abnormal hand morphology	546	ATRX	ORPHA:847
HP:0005922	Abnormal hand morphology	84823	LMNB2	OMIM:619180
HP:0005922	Abnormal hand morphology	9184	BUB3	ORPHA:1052
HP:0005922	Abnormal hand morphology	699	BUB1	ORPHA:1052
HP:0005922	Abnormal hand morphology	699	BUB1	OMIM:620183
HP:0005922	Abnormal hand morphology	9702	CEP57	ORPHA:1052
HP:0005922	Abnormal hand morphology	9702	CEP57	OMIM:614114
HP:0005922	Abnormal hand morphology	9319	TRIP13	ORPHA:1052
HP:0005922	Abnormal hand morphology	701	BUB1B	ORPHA:1052
HP:0005922	Abnormal hand morphology	54476	RNF216	ORPHA:1173
HP:0005922	Abnormal hand morphology	10908	PNPLA6	ORPHA:1173
HP:0005922	Abnormal hand morphology	23036	ZNF292	OMIM:619188
HP:0005922	Abnormal hand morphology	51199	NIN	OMIM:614851
HP:0005922	Abnormal hand morphology	51199	NIN	ORPHA:319675
HP:0005922	Abnormal hand morphology	1954	MEGF8	OMIM:614976
HP:0005922	Abnormal hand morphology	25942	SIN3A	OMIM:613406
HP:0005922	Abnormal hand morphology	4953	ODC1	OMIM:619075
HP:0005922	Abnormal hand morphology	4953	ODC1	ORPHA:544488
HP:0005922	Abnormal hand morphology	1857	DVL3	ORPHA:3107
HP:0005922	Abnormal hand morphology	7474	WNT5A	ORPHA:3107
HP:0005922	Abnormal hand morphology	1855	DVL1	ORPHA:3107
HP:0005922	Abnormal hand morphology	2535	FZD2	ORPHA:3107
HP:0005922	Abnormal hand morphology	2535	FZD2	OMIM:164745
HP:0005922	Abnormal hand morphology	26053	AUTS2	OMIM:615834
HP:0005922	Abnormal hand morphology	6804	STX1A	ORPHA:904
HP:0005922	Abnormal hand morphology	7461	CLIP2	ORPHA:904
HP:0005922	Abnormal hand morphology	84277	DNAJC30	ORPHA:904
HP:0005922	Abnormal hand morphology	8468	FKBP6	ORPHA:904
HP:0005922	Abnormal hand morphology	5982	RFC2	ORPHA:904
HP:0005922	Abnormal hand morphology	2969	GTF2I	ORPHA:904
HP:0005922	Abnormal hand morphology	3984	LIMK1	ORPHA:904
HP:0005922	Abnormal hand morphology	9569	GTF2IRD1	ORPHA:904
HP:0005922	Abnormal hand morphology	155382	VPS37D	ORPHA:904
HP:0005922	Abnormal hand morphology	155368	METTL27	ORPHA:904
HP:0005922	Abnormal hand morphology	114049	BUD23	ORPHA:904
HP:0005922	Abnormal hand morphology	7458	EIF4H	ORPHA:904
HP:0005922	Abnormal hand morphology	84163	GTF2IRD2	ORPHA:904
HP:0005922	Abnormal hand morphology	9275	BCL7B	ORPHA:904
HP:0005922	Abnormal hand morphology	26608	TBL2	ORPHA:904
HP:0005922	Abnormal hand morphology	653361	NCF1	ORPHA:904
HP:0005922	Abnormal hand morphology	135886	TMEM270	ORPHA:904
HP:0005922	Abnormal hand morphology	51085	MLXIPL	ORPHA:904
HP:0005922	Abnormal hand morphology	51085	MLXIPL	OMIM:194050
HP:0005922	Abnormal hand morphology	9031	BAZ1B	ORPHA:904
HP:0005922	Abnormal hand morphology	2006	ELN	ORPHA:904
HP:0005922	Abnormal hand morphology	2006	ELN	OMIM:194050
HP:0005922	Abnormal hand morphology	2122	MECOM	ORPHA:71289
HP:0005922	Abnormal hand morphology	3207	HOXA11	ORPHA:71289
HP:0005922	Abnormal hand morphology	3207	HOXA11	OMIM:605432
HP:0005922	Abnormal hand morphology	81031	SLC2A10	ORPHA:3342
HP:0005922	Abnormal hand morphology	55165	CEP55	OMIM:236500
HP:0005922	Abnormal hand morphology	84992	PIGY	OMIM:616809
HP:0005922	Abnormal hand morphology	10236	HNRNPR	OMIM:620073
HP:0005922	Abnormal hand morphology	4094	MAF	ORPHA:1272
HP:0005922	Abnormal hand morphology	6628	SNRPB	ORPHA:1393
HP:0005922	Abnormal hand morphology	6628	SNRPB	OMIM:117650
HP:0005922	Abnormal hand morphology	1028	CDKN1C	ORPHA:397590
HP:0005922	Abnormal hand morphology	5324	PLAG1	ORPHA:397590
HP:0005922	Abnormal hand morphology	9555	MACROH2A1	ORPHA:1275
HP:0005922	Abnormal hand morphology	5307	PITX1	ORPHA:1275
HP:0005922	Abnormal hand morphology	5422	POLA1	ORPHA:163976
HP:0005922	Abnormal hand morphology	5422	POLA1	OMIM:301030
HP:0005922	Abnormal hand morphology	55906	ZC4H2	ORPHA:3454
HP:0005922	Abnormal hand morphology	10430	TMEM147	OMIM:620075
HP:0005922	Abnormal hand morphology	2626	GATA4	OMIM:187500
HP:0005922	Abnormal hand morphology	2626	GATA4	ORPHA:3303
HP:0005922	Abnormal hand morphology	23414	ZFPM2	OMIM:187500
HP:0005922	Abnormal hand morphology	23414	ZFPM2	ORPHA:3303
HP:0005922	Abnormal hand morphology	1482	NKX2-5	OMIM:187500
HP:0005922	Abnormal hand morphology	1482	NKX2-5	ORPHA:3303
HP:0005922	Abnormal hand morphology	182	JAG1	OMIM:187500
HP:0005922	Abnormal hand morphology	182	JAG1	ORPHA:3303
HP:0005922	Abnormal hand morphology	6899	TBX1	OMIM:187500
HP:0005922	Abnormal hand morphology	6899	TBX1	ORPHA:3303
HP:0005922	Abnormal hand morphology	2627	GATA6	OMIM:187500
HP:0005922	Abnormal hand morphology	2627	GATA6	ORPHA:3303
HP:0005922	Abnormal hand morphology	545	ATR	ORPHA:808
HP:0005922	Abnormal hand morphology	545	ATR	OMIM:210600
HP:0005922	Abnormal hand morphology	1062	CENPE	ORPHA:808
HP:0005922	Abnormal hand morphology	5116	PCNT	ORPHA:808
HP:0005922	Abnormal hand morphology	5116	PCNT	OMIM:210720
HP:0005922	Abnormal hand morphology	5116	PCNT	ORPHA:2637
HP:0005922	Abnormal hand morphology	79902	NUP85	ORPHA:808
HP:0005922	Abnormal hand morphology	84126	ATRIP	ORPHA:808
HP:0005922	Abnormal hand morphology	55835	CENPJ	ORPHA:808
HP:0005922	Abnormal hand morphology	10293	TRAIP	ORPHA:808
HP:0005922	Abnormal hand morphology	10733	PLK4	ORPHA:808
HP:0005922	Abnormal hand morphology	9939	RBM8A	ORPHA:3320
HP:0005922	Abnormal hand morphology	9939	RBM8A	OMIM:274000
HP:0005922	Abnormal hand morphology	55023	PHIP	ORPHA:589905
HP:0005922	Abnormal hand morphology	55023	PHIP	OMIM:617991
HP:0005922	Abnormal hand morphology	29123	ANKRD11	OMIM:148050
HP:0005922	Abnormal hand morphology	9775	EIF4A3	OMIM:268305
HP:0005922	Abnormal hand morphology	2702	GJA5	OMIM:612474
HP:0005922	Abnormal hand morphology	2702	GJA5	ORPHA:3303
HP:0005922	Abnormal hand morphology	2703	GJA8	OMIM:612474
HP:0005922	Abnormal hand morphology	4208	MEF2C	OMIM:613443
HP:0005922	Abnormal hand morphology	2245	FGD1	ORPHA:915
HP:0005922	Abnormal hand morphology	9230	RAB11B	OMIM:617807
HP:0005922	Abnormal hand morphology	22856	CHSY1	ORPHA:363417
HP:0005922	Abnormal hand morphology	51621	KLF13	OMIM:612001
HP:0005922	Abnormal hand morphology	5648	MASP1	OMIM:257920
HP:0005922	Abnormal hand morphology	23394	ADNP	OMIM:615873
HP:0005922	Abnormal hand morphology	9759	HDAC4	ORPHA:1001
HP:0005922	Abnormal hand morphology	11133	KPTN	OMIM:615637
HP:0005922	Abnormal hand morphology	11133	KPTN	ORPHA:397612
HP:0005922	Abnormal hand morphology	23028	KDM1A	OMIM:616728
HP:0005922	Abnormal hand morphology	23028	KDM1A	ORPHA:477993
HP:0005922	Abnormal hand morphology	137814	NKX2-6	ORPHA:3303
HP:0005922	Abnormal hand morphology	3791	KDR	ORPHA:3303
HP:0005922	Abnormal hand morphology	2657	GDF1	ORPHA:3303
HP:0005922	Abnormal hand morphology	140628	GATA5	ORPHA:3303
HP:0005922	Abnormal hand morphology	2324	FLT4	ORPHA:3303
HP:0005922	Abnormal hand morphology	10370	CITED2	ORPHA:3303
HP:0005922	Abnormal hand morphology	2334	AFF2	ORPHA:100973
HP:0005922	Abnormal hand morphology	10847	SRCAP	OMIM:136140
HP:0005922	Abnormal hand morphology	10982	MAPRE2	OMIM:616734
HP:0005922	Abnormal hand morphology	4131	MAP1B	OMIM:618918
HP:0005922	Abnormal hand morphology	54808	DYM	OMIM:223800
HP:0005922	Abnormal hand morphology	84679	SLC9A7	OMIM:301024
HP:0005922	Abnormal hand morphology	10735	STAG2	OMIM:301022
HP:0005922	Abnormal hand morphology	10265	IRX5	OMIM:611174
HP:0005922	Abnormal hand morphology	5925	RB1	ORPHA:1587
HP:0005922	Abnormal hand morphology	7874	USP7	OMIM:616863
HP:0005922	Abnormal hand morphology	3759	KCNJ2	OMIM:170390
HP:0005922	Abnormal hand morphology	81620	CDT1	ORPHA:2554
HP:0005922	Abnormal hand morphology	5000	ORC4	ORPHA:2554
HP:0005922	Abnormal hand morphology	23594	ORC6	ORPHA:2554
HP:0005922	Abnormal hand morphology	990	CDC6	ORPHA:2554
HP:0005922	Abnormal hand morphology	51053	GMNN	ORPHA:2554
HP:0005922	Abnormal hand morphology	25	ABL1	OMIM:617602
HP:0005922	Abnormal hand morphology	83696	TRAPPC9	ORPHA:352530
HP:0005922	Abnormal hand morphology	860	RUNX2	ORPHA:1452
HP:0005922	Abnormal hand morphology	29980	DONSON	OMIM:617604
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:177907
HP:0005922	Abnormal hand morphology	23476	BRD4	ORPHA:199
HP:0005922	Abnormal hand morphology	8243	SMC1A	ORPHA:199
HP:0005922	Abnormal hand morphology	10664	CTCF	ORPHA:363611
HP:0005922	Abnormal hand morphology	157680	VPS13B	ORPHA:193
HP:0005922	Abnormal hand morphology	22931	RAB18	OMIM:614222
HP:0005922	Abnormal hand morphology	9894	TELO2	ORPHA:488642
HP:0005922	Abnormal hand morphology	490	ATP2B1	OMIM:619910
HP:0005922	Abnormal hand morphology	8405	SPOP	OMIM:618828
HP:0005922	Abnormal hand morphology	8405	SPOP	OMIM:618829
HP:0005922	Abnormal hand morphology	284252	KCTD1	OMIM:181270
HP:0005922	Abnormal hand morphology	54870	QRICH1	OMIM:617982
HP:0005922	Abnormal hand morphology	139285	AMER1	OMIM:300373
HP:0005922	Abnormal hand morphology	4841	NONO	ORPHA:466791
HP:0005922	Abnormal hand morphology	1663	DDX11	OMIM:613398
HP:0005922	Abnormal hand morphology	51317	PHF21A	OMIM:618725
HP:0005922	Abnormal hand morphology	2186	BPTF	OMIM:617755
HP:0005922	Abnormal hand morphology	59341	TRPV4	ORPHA:2635
HP:0005922	Abnormal hand morphology	10225	CD96	ORPHA:1308
HP:0005922	Abnormal hand morphology	4848	CNOT2	OMIM:618608
HP:0005922	Abnormal hand morphology	64131	XYLT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	124583	CANT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	55790	CSGALNACT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	4204	MECP2	OMIM:300260
HP:0005922	Abnormal hand morphology	55553	SOX6	OMIM:618971
HP:0005922	Abnormal hand morphology	84148	KAT8	OMIM:618974
HP:0005922	Abnormal hand morphology	58499	ZNF462	OMIM:618619
HP:0005922	Abnormal hand morphology	6598	SMARCB1	OMIM:614608
HP:0005922	Abnormal hand morphology	84068	SLC10A7	OMIM:618363
HP:0005922	Abnormal hand morphology	5144	PDE4D	OMIM:614613
HP:0005922	Abnormal hand morphology	54187	NANS	OMIM:610442
HP:0005922	Abnormal hand morphology	347734	SLC35B2	OMIM:620269
HP:0005922	Abnormal hand morphology	23169	SLC35D1	OMIM:269250
HP:0005922	Abnormal hand morphology	9451	EIF2AK3	OMIM:226980
HP:0005922	Abnormal hand morphology	10568	SLC34A2	ORPHA:60025
HP:0005922	Abnormal hand morphology	3417	IDH1	ORPHA:99646
HP:0005922	Abnormal hand morphology	3480	IGF1R	ORPHA:73273
HP:0005922	Abnormal hand morphology	4921	DDR2	OMIM:271665
HP:0005922	Abnormal hand morphology	2879	GPX4	ORPHA:93317
HP:0005922	Abnormal hand morphology	124997	WDR81	OMIM:610185
HP:0005922	Abnormal hand morphology	118429	ANTXR2	ORPHA:2176
HP:0005922	Abnormal hand morphology	7681	MKRN3	OMIM:176270
HP:0005922	Abnormal hand morphology	3653	IPW	OMIM:176270
HP:0005922	Abnormal hand morphology	54551	MAGEL2	OMIM:176270
HP:0005922	Abnormal hand morphology	791114	PWRN1	OMIM:176270
HP:0005922	Abnormal hand morphology	100033413	SNORD116-1	OMIM:176270
HP:0005922	Abnormal hand morphology	8924	HERC2	OMIM:176270
HP:0005922	Abnormal hand morphology	145624	PWAR1	OMIM:176270
HP:0005922	Abnormal hand morphology	23742	NPAP1	OMIM:176270
HP:0005922	Abnormal hand morphology	338433	SNORD115-1	OMIM:176270
HP:0005922	Abnormal hand morphology	1302	COL11A2	OMIM:215150
HP:0005922	Abnormal hand morphology	2623	GATA1	OMIM:190685
HP:0005922	Abnormal hand morphology	79639	TMEM53	OMIM:619727
HP:0005922	Abnormal hand morphology	55249	YY1AP1	ORPHA:79094
HP:0005922	Abnormal hand morphology	25782	RAB3GAP2	OMIM:212720
HP:0005922	Abnormal hand morphology	6023	RMRP	ORPHA:175
HP:0005922	Abnormal hand morphology	6023	RMRP	OMIM:607095
HP:0005922	Abnormal hand morphology	6023	RMRP	OMIM:250250
HP:0005922	Abnormal hand morphology	818	CAMK2G	OMIM:618522
HP:0005922	Abnormal hand morphology	1778	DYNC1H1	OMIM:614563
HP:0005922	Abnormal hand morphology	2200	FBN1	ORPHA:969
HP:0005922	Abnormal hand morphology	2200	FBN1	OMIM:614185
HP:0005922	Abnormal hand morphology	2200	FBN1	OMIM:102370
HP:0005922	Abnormal hand morphology	4054	LTBP3	ORPHA:969
HP:0005922	Abnormal hand morphology	222663	SCUBE3	OMIM:619184
HP:0005922	Abnormal hand morphology	80311	KLHL15	OMIM:300982
HP:0005922	Abnormal hand morphology	10943	MSL3	OMIM:301032
HP:0005922	Abnormal hand morphology	633	BGN	OMIM:300106
HP:0005922	Abnormal hand morphology	55012	PPP2R3C	OMIM:618419
HP:0005922	Abnormal hand morphology	5573	PRKAR1A	OMIM:101800
HP:0005922	Abnormal hand morphology	64374	SIL1	ORPHA:559
HP:0005922	Abnormal hand morphology	51763	INPP5K	ORPHA:559
HP:0005922	Abnormal hand morphology	9244	CRLF1	OMIM:272430
HP:0005922	Abnormal hand morphology	4000	LMNA	ORPHA:79474
HP:0005922	Abnormal hand morphology	2254	FGF9	ORPHA:3237
HP:0005922	Abnormal hand morphology	6885	MAP3K7	ORPHA:3238
HP:0005922	Abnormal hand morphology	9321	TRIP11	ORPHA:166272
HP:0005922	Abnormal hand morphology	9321	TRIP11	ORPHA:93299
HP:0005922	Abnormal hand morphology	538	ATP7A	ORPHA:198
HP:0005922	Abnormal hand morphology	6905	TBCE	OMIM:241410
HP:0005922	Abnormal hand morphology	6905	TBCE	OMIM:244460
HP:0005922	Abnormal hand morphology	9791	PTDSS1	ORPHA:2658
HP:0005922	Abnormal hand morphology	10013	HDAC6	ORPHA:163966
HP:0005922	Abnormal hand morphology	79753	SNIP1	OMIM:614501
HP:0005922	Abnormal hand morphology	9719	ADAMTSL2	OMIM:231050
HP:0005922	Abnormal hand morphology	4796	TONSL	ORPHA:93357
HP:0005922	Abnormal hand morphology	79718	TBL1XR1	OMIM:602342
HP:0005922	Abnormal hand morphology	1298	COL9A2	OMIM:600204
HP:0005922	Abnormal hand morphology	3636	INPPL1	OMIM:258480
HP:0005922	Abnormal hand morphology	5159	PDGFRB	OMIM:601812
HP:0005922	Abnormal hand morphology	28957	MRPS28	OMIM:618958
HP:0005922	Abnormal hand morphology	23261	CAMTA1	OMIM:614756
HP:0005922	Abnormal hand morphology	25839	COG4	ORPHA:85172
HP:0005922	Abnormal hand morphology	6925	TCF4	OMIM:610954
HP:0005922	Abnormal hand morphology	5295	PIK3R1	ORPHA:3163
HP:0005922	Abnormal hand morphology	8813	DPM1	OMIM:608799
HP:0005922	Abnormal hand morphology	1280	COL2A1	ORPHA:85166
HP:0005922	Abnormal hand morphology	51322	WAC	ORPHA:466950
HP:0005922	Abnormal hand morphology	147372	CCBE1	OMIM:235510
HP:0005922	Abnormal hand morphology	4089	SMAD4	ORPHA:2588
HP:0005922	Abnormal hand morphology	5727	PTCH1	OMIM:109400
HP:0005922	Abnormal hand morphology	579	NKX3-2	OMIM:613330
HP:0005922	Abnormal hand morphology	324	APC	ORPHA:3258
HP:0005922	Abnormal hand morphology	1311	COMP	ORPHA:750
HP:0005922	Abnormal hand morphology	4882	NPR2	OMIM:615923
HP:0005922	Abnormal hand morphology	4323	MMP14	ORPHA:371428
HP:0005922	Abnormal hand morphology	9130	FAM50A	OMIM:300261
HP:0005922	Abnormal hand morphology	23111	SPART	ORPHA:101000
HP:0005922	Abnormal hand morphology	8139	GAN	ORPHA:643
HP:0005922	Abnormal hand morphology	9365	KL	OMIM:617994
HP:0005922	Abnormal hand morphology	56098	PCDHGC4	OMIM:619880
HP:0005922	Abnormal hand morphology	171023	ASXL1	ORPHA:97297
HP:0005922	Abnormal hand morphology	11342	RNF13	ORPHA:544503
HP:0005922	Abnormal hand morphology	6678	SPARC	OMIM:616507
HP:0005922	Abnormal hand morphology	26229	B3GAT3	OMIM:245600
HP:0005922	Abnormal hand morphology	84295	PHF6	OMIM:301900
HP:0005922	Abnormal hand morphology	84720	PIGO	ORPHA:247262
HP:0005922	Abnormal hand morphology	84720	PIGO	OMIM:614749
HP:0005922	Abnormal hand morphology	93210	PGAP3	ORPHA:247262
HP:0005922	Abnormal hand morphology	93210	PGAP3	OMIM:615716
HP:0005922	Abnormal hand morphology	284098	PIGW	ORPHA:247262
HP:0005922	Abnormal hand morphology	27315	PGAP2	ORPHA:247262
HP:0005922	Abnormal hand morphology	27315	PGAP2	OMIM:614207
HP:0005922	Abnormal hand morphology	29929	ALG6	ORPHA:79320
HP:0005922	Abnormal hand morphology	2990	GUSB	OMIM:253220
HP:0005922	Abnormal hand morphology	10558	SPTLC1	OMIM:162400
HP:0005922	Abnormal hand morphology	22948	CCT5	OMIM:256840
HP:0005922	Abnormal hand morphology	22948	CCT5	ORPHA:139578
HP:0005922	Abnormal hand morphology	4803	NGF	OMIM:608654
HP:0005922	Abnormal hand morphology	4256	MGP	OMIM:245150
HP:0005922	Abnormal hand morphology	4041	LRP5	OMIM:144750
HP:0005922	Abnormal hand morphology	4853	NOTCH2	OMIM:102500
HP:0005922	Abnormal hand morphology	1297	COL9A1	ORPHA:166002
HP:0005922	Abnormal hand morphology	1299	COL9A3	ORPHA:166002
HP:0005922	Abnormal hand morphology	64135	IFIH1	OMIM:182250
HP:0005922	Abnormal hand morphology	3835	KIF22	ORPHA:93360
HP:0005922	Abnormal hand morphology	91179	SCARF2	OMIM:600920
HP:0005922	Abnormal hand morphology	3848	KRT1	ORPHA:79503
HP:0005922	Abnormal hand morphology	2706	GJB2	ORPHA:494
HP:0005922	Abnormal hand morphology	2706	GJB2	OMIM:124500
HP:0005922	Abnormal hand morphology	54463	RETREG1	OMIM:201300
HP:0005922	Abnormal hand morphology	54463	RETREG1	OMIM:613115
HP:0005922	Abnormal hand morphology	65125	WNK1	OMIM:201300
HP:0005922	Abnormal hand morphology	6335	SCN9A	OMIM:201300
HP:0005922	Abnormal hand morphology	547	KIF1A	OMIM:201300
HP:0005922	Abnormal hand morphology	547	KIF1A	OMIM:614213
HP:0005922	Abnormal hand morphology	162514	TRPV3	OMIM:614594
HP:0005922	Abnormal hand morphology	7051	TGM1	ORPHA:100976
HP:0005922	Abnormal hand morphology	9517	SPTLC2	OMIM:613640
HP:0005922	Abnormal hand morphology	26276	VPS33B	OMIM:620009
HP:0005922	Abnormal hand morphology	4914	NTRK1	OMIM:256800
HP:0005922	Abnormal hand morphology	11277	TREX1	OMIM:610448
HP:0005922	Abnormal hand morphology	51062	ATL1	OMIM:613708
HP:0005922	Abnormal hand morphology	5167	ENPP1	ORPHA:51608
HP:0005922	Abnormal hand morphology	368	ABCC6	ORPHA:51608
HP:0005922	Abnormal hand morphology	56992	KIF15	ORPHA:261323
HP:0005922	Abnormal hand morphology	6597	SMARCA4	ORPHA:1465
HP:0005922	Abnormal hand morphology	6597	SMARCA4	OMIM:614609
HP:0005922	Abnormal hand morphology	6601	SMARCC2	ORPHA:1465
HP:0005922	Abnormal hand morphology	6602	SMARCD1	ORPHA:1465
HP:0005922	Abnormal hand morphology	196528	ARID2	ORPHA:1465
HP:0005922	Abnormal hand morphology	5879	RAC1	ORPHA:500159
HP:0005922	Abnormal hand morphology	5286	PIK3C2A	ORPHA:557003
HP:0005922	Abnormal hand morphology	1327	COX4I1	OMIM:619060
HP:0005922	Abnormal hand morphology	4212	MEIS2	OMIM:600987
HP:0005922	Abnormal hand morphology	7403	KDM6A	OMIM:300867
HP:0005922	Abnormal hand morphology	7403	KDM6A	ORPHA:2322
HP:0005922	Abnormal hand morphology	7403	KDM6A	OMIM:147920
HP:0005922	Abnormal hand morphology	8085	KMT2D	ORPHA:2322
HP:0005922	Abnormal hand morphology	8085	KMT2D	OMIM:147920
HP:0005922	Abnormal hand morphology	242	ALOX12B	OMIM:242100
HP:0005922	Abnormal hand morphology	59344	ALOXE3	OMIM:242100
HP:0005922	Abnormal hand morphology	7840	ALMS1	ORPHA:64
HP:0005922	Abnormal hand morphology	9131	AIFM1	OMIM:300232
HP:0005922	Abnormal hand morphology	9578	CDC42BPB	OMIM:619841
HP:0005922	Abnormal hand morphology	444	ASPH	OMIM:601552
HP:0005922	Abnormal hand morphology	57178	ZMIZ1	OMIM:618659
HP:0005922	Abnormal hand morphology	1144	CHRND	OMIM:253290
HP:0005922	Abnormal hand morphology	1134	CHRNA1	OMIM:253290
HP:0005922	Abnormal hand morphology	9091	PIGQ	ORPHA:1934
HP:0005922	Abnormal hand morphology	2775	GNAO1	ORPHA:1934
HP:0005922	Abnormal hand morphology	81603	TRIM8	ORPHA:1934
HP:0005922	Abnormal hand morphology	2902	GRIN1	ORPHA:1934
HP:0005922	Abnormal hand morphology	79751	SLC25A22	ORPHA:1934
HP:0005922	Abnormal hand morphology	150094	SIK1	ORPHA:1934
HP:0005922	Abnormal hand morphology	8573	CASK	ORPHA:1934
HP:0005922	Abnormal hand morphology	23312	DMXL2	ORPHA:1934
HP:0005922	Abnormal hand morphology	2917	GRM7	ORPHA:1934
HP:0005922	Abnormal hand morphology	170302	ARX	ORPHA:1934
HP:0005922	Abnormal hand morphology	11284	PNKP	ORPHA:1934
HP:0005922	Abnormal hand morphology	6326	SCN2A	ORPHA:1934
HP:0005922	Abnormal hand morphology	51227	PIGP	ORPHA:1934
HP:0005922	Abnormal hand morphology	6324	SCN1B	ORPHA:1934
HP:0005922	Abnormal hand morphology	4761	NEUROD2	ORPHA:1934
HP:0005922	Abnormal hand morphology	50814	NSDHL	OMIM:308050
HP:0005922	Abnormal hand morphology	2019	EN1	OMIM:619218
HP:0005922	Abnormal hand morphology	51651	PTRH2	OMIM:616263
HP:0005922	Abnormal hand morphology	51651	PTRH2	ORPHA:456312
HP:0005922	Abnormal hand morphology	1146	CHRNG	OMIM:265000
HP:0005922	Abnormal hand morphology	259232	NALCN	ORPHA:2053
HP:0005922	Abnormal hand morphology	259232	NALCN	ORPHA:1147
HP:0005922	Abnormal hand morphology	259232	NALCN	ORPHA:1146
HP:0005922	Abnormal hand morphology	7140	TNNT3	ORPHA:1147
HP:0005922	Abnormal hand morphology	7140	TNNT3	ORPHA:1146
HP:0005922	Abnormal hand morphology	23233	EXOC6B	ORPHA:93359
HP:0005922	Abnormal hand morphology	4604	MYBPC1	ORPHA:1146
HP:0005922	Abnormal hand morphology	22930	RAB3GAP1	ORPHA:1387
HP:0005922	Abnormal hand morphology	50945	TBX22	ORPHA:921
HP:0005922	Abnormal hand morphology	3265	HRAS	ORPHA:3071
HP:0005922	Abnormal hand morphology	3977	LIFR	OMIM:601559
HP:0005922	Abnormal hand morphology	2201	FBN2	OMIM:121050
HP:0005922	Abnormal hand morphology	9382	COG1	OMIM:611209
HP:0005922	Abnormal hand morphology	389827	MYMK	ORPHA:1358
HP:0005922	Abnormal hand morphology	101929726	MYMX	ORPHA:1358
HP:0005922	Abnormal hand morphology	5604	MAP2K1	OMIM:163950
HP:0005922	Abnormal hand morphology	26227	PHGDH	OMIM:256520
HP:0005922	Abnormal hand morphology	81857	MED25	ORPHA:464738
HP:0005922	Abnormal hand morphology	80207	OPA3	ORPHA:67036
HP:0005922	Abnormal hand morphology	55131	RBM28	ORPHA:157954
HP:0005922	Abnormal hand morphology	55131	RBM28	OMIM:612079
HP:0005922	Abnormal hand morphology	4123	MAN2C1	OMIM:619775
HP:0005922	Abnormal hand morphology	56896	DPYSL5	OMIM:619435
HP:0005922	Abnormal hand morphology	57211	ADGRG6	OMIM:616503
HP:0005922	Abnormal hand morphology	9839	ZEB2	ORPHA:261537
HP:0005922	Abnormal hand morphology	9839	ZEB2	ORPHA:261552
HP:0005922	Abnormal hand morphology	79796	ALG9	ORPHA:79328
HP:0005922	Abnormal hand morphology	79796	ALG9	OMIM:263210
HP:0005922	Abnormal hand morphology	22858	CILK1	OMIM:612651
HP:0005922	Abnormal hand morphology	80144	FRAS1	OMIM:219000
HP:0005922	Abnormal hand morphology	5053	PAH	ORPHA:2209
HP:0005922	Abnormal hand morphology	998	CDC42	ORPHA:487796
HP:0005922	Abnormal hand morphology	998	CDC42	OMIM:616737
HP:0005922	Abnormal hand morphology	8314	BAP1	OMIM:619762
HP:0005922	Abnormal hand morphology	4247	MGAT2	OMIM:212066
HP:0005922	Abnormal hand morphology	5293	PIK3CD	ORPHA:221139
HP:0005922	Abnormal hand morphology	90417	KNSTRN	ORPHA:221139
HP:0005922	Abnormal hand morphology	2778	GNAS	ORPHA:79445
HP:0005922	Abnormal hand morphology	3756	KCNH1	OMIM:611816
HP:0005922	Abnormal hand morphology	64682	ANAPC1	ORPHA:221008
HP:0005922	Abnormal hand morphology	4038	LRP4	OMIM:212780
HP:0005922	Abnormal hand morphology	6938	TCF12	ORPHA:35099
HP:0005922	Abnormal hand morphology	7545	ZIC1	ORPHA:35099
HP:0005922	Abnormal hand morphology	4621	MYH3	OMIM:178110
HP:0005922	Abnormal hand morphology	5077	PAX3	OMIM:148820
HP:0005922	Abnormal hand morphology	2192	FBLN1	OMIM:608180
HP:0005922	Abnormal hand morphology	1075	CTSC	OMIM:245010
HP:0005922	Abnormal hand morphology	23586	RIGI	OMIM:616298
HP:0005922	Abnormal hand morphology	25923	ATL3	OMIM:615632
HP:0005922	Abnormal hand morphology	427	ASAH1	OMIM:228000
HP:0005922	Abnormal hand morphology	340419	RSPO2	OMIM:618022
HP:0005922	Abnormal hand morphology	8452	CUL3	OMIM:619239
HP:0005922	Abnormal hand morphology	5718	PSMD12	OMIM:617516
HP:0005922	Abnormal hand morphology	29998	BICRA	OMIM:619325
HP:0005922	Abnormal hand morphology	1723	DHODH	OMIM:263750
HP:0005922	Abnormal hand morphology	176	ACAN	ORPHA:435804
HP:0005922	Abnormal hand morphology	176	ACAN	OMIM:165800
HP:0005922	Abnormal hand morphology	407975	MIR17HG	ORPHA:391646
HP:0005922	Abnormal hand morphology	4053	LTBP2	ORPHA:3449
HP:0005922	Abnormal hand morphology	1513	CTSK	ORPHA:763
HP:0005922	Abnormal hand morphology	1513	CTSK	OMIM:265800
HP:0005922	Abnormal hand morphology	8815	BANF1	OMIM:614008
HP:0005922	Abnormal hand morphology	9896	FIG4	ORPHA:3472
HP:0005922	Abnormal hand morphology	55697	VAC14	ORPHA:3472
HP:0005922	Abnormal hand morphology	9488	PIGB	OMIM:618580
HP:0005922	Abnormal hand morphology	10617	STAMBP	OMIM:614261
HP:0005922	Abnormal hand morphology	2335	FN1	ORPHA:93315
HP:0005922	Abnormal hand morphology	51412	ACTL6B	OMIM:618470
HP:0005922	Abnormal hand morphology	55784	MCTP2	ORPHA:1596
HP:0005922	Abnormal hand morphology	5744	PTHLH	ORPHA:93387
HP:0005922	Abnormal hand morphology	3764	KCNJ8	ORPHA:1517
HP:0005922	Abnormal hand morphology	10060	ABCC9	ORPHA:1517
HP:0005922	Abnormal hand morphology	10651	MTX2	ORPHA:90153
HP:0005922	Abnormal hand morphology	10269	ZMPSTE24	ORPHA:90154
HP:0005922	Abnormal hand morphology	55650	PIGV	OMIM:239300
HP:0005922	Abnormal hand morphology	29957	SLC25A24	ORPHA:2963
HP:0005922	Abnormal hand morphology	29957	SLC25A24	ORPHA:2095
HP:0005922	Abnormal hand morphology	29957	SLC25A24	OMIM:612289
HP:0005922	Abnormal hand morphology	24140	FTSJ1	OMIM:309549
HP:0005922	Abnormal hand morphology	54496	PRMT7	OMIM:617157
HP:0005922	Abnormal hand morphology	9469	CHST3	OMIM:143095
HP:0005922	Abnormal hand morphology	8289	ARID1A	OMIM:614607
HP:0005922	Abnormal hand morphology	2475	MTOR	OMIM:616638
HP:0005922	Abnormal hand morphology	9419	CRIPT	OMIM:615789
HP:0005922	Abnormal hand morphology	3782	KCNN3	OMIM:618658
HP:0005922	Abnormal hand morphology	54	ACP5	ORPHA:1855
HP:0005922	Abnormal hand morphology	1300	COL10A1	OMIM:156500
HP:0005922	Abnormal hand morphology	5281	PIGF	OMIM:619356
HP:0005922	Abnormal hand morphology	2677	GGCX	OMIM:277450
HP:0005922	Abnormal hand morphology	10283	CWC27	OMIM:250410
HP:0005922	Abnormal hand morphology	415	ARSL	ORPHA:79345
HP:0005922	Abnormal hand morphology	415	ARSL	OMIM:302950
HP:0005922	Abnormal hand morphology	26137	ZBTB20	OMIM:259050
HP:0005922	Abnormal hand morphology	60401	EDA2R	ORPHA:181
HP:0005922	Abnormal hand morphology	1896	EDA	ORPHA:181
HP:0005922	Abnormal hand morphology	6605	SMARCE1	OMIM:616938
HP:0005922	Abnormal hand morphology	50515	CHST11	OMIM:618167
HP:0005922	Abnormal hand morphology	1186	CLCN7	ORPHA:53
HP:0005922	Abnormal hand morphology	6664	SOX11	OMIM:615866
HP:0005922	Abnormal hand morphology	55081	IFT57	OMIM:617927
HP:0005922	Abnormal hand morphology	25886	POC1A	OMIM:614813
HP:0005922	Abnormal hand morphology	865	CBFB	OMIM:620099
HP:0005922	Abnormal hand morphology	2255	FGF10	ORPHA:2363
HP:0005922	Abnormal hand morphology	71	ACTG1	ORPHA:2995
HP:0005922	Abnormal hand morphology	60	ACTB	ORPHA:2995
HP:0005922	Abnormal hand morphology	6472	SHMT2	OMIM:619121
HP:0005922	Abnormal hand morphology	6135	RPL11	ORPHA:124
HP:0005922	Abnormal hand morphology	6138	RPL15	ORPHA:124
HP:0005922	Abnormal hand morphology	6229	RPS24	ORPHA:124
HP:0005922	Abnormal hand morphology	6125	RPL5	ORPHA:124
HP:0005922	Abnormal hand morphology	6204	RPS10	ORPHA:124
HP:0005922	Abnormal hand morphology	6224	RPS20	ORPHA:124
HP:0005922	Abnormal hand morphology	6165	RPL35A	ORPHA:124
HP:0005922	Abnormal hand morphology	6223	RPS19	ORPHA:124
HP:0005922	Abnormal hand morphology	6223	RPS19	OMIM:105650
HP:0005922	Abnormal hand morphology	6232	RPS27	ORPHA:124
HP:0005922	Abnormal hand morphology	6231	RPS26	ORPHA:124
HP:0005922	Abnormal hand morphology	11224	RPL35	ORPHA:124
HP:0005922	Abnormal hand morphology	6160	RPL31	ORPHA:124
HP:0005922	Abnormal hand morphology	6218	RPS17	ORPHA:124
HP:0005922	Abnormal hand morphology	6201	RPS7	ORPHA:124
HP:0005922	Abnormal hand morphology	6155	RPL27	ORPHA:124
HP:0005922	Abnormal hand morphology	6210	RPS15A	ORPHA:124
HP:0005922	Abnormal hand morphology	90121	TSR2	ORPHA:124
HP:0005922	Abnormal hand morphology	6141	RPL18	ORPHA:124
HP:0005922	Abnormal hand morphology	6235	RPS29	ORPHA:124
HP:0005922	Abnormal hand morphology	6234	RPS28	ORPHA:124
HP:0005922	Abnormal hand morphology	51816	ADA2	ORPHA:124
HP:0005922	Abnormal hand morphology	57122	NUP107	OMIM:616730
HP:0005922	Abnormal hand morphology	57122	NUP107	OMIM:618348
HP:0005922	Abnormal hand morphology	10992	SF3B2	OMIM:164210
HP:0005922	Abnormal hand morphology	27152	INTU	OMIM:617926
HP:0005922	Abnormal hand morphology	57020	VPS35L	OMIM:619135
HP:0005922	Abnormal hand morphology	6662	SOX9	OMIM:114290
HP:0005922	Abnormal hand morphology	3911	LAMA5	OMIM:620076
HP:0005922	Abnormal hand morphology	6736	SRY	ORPHA:1772
HP:0005922	Abnormal hand morphology	79633	FAT4	OMIM:615546
HP:0005922	Abnormal hand morphology	8642	DCHS1	OMIM:601390
HP:0005922	Abnormal hand morphology	26224	FBXL3	OMIM:606220
HP:0005922	Abnormal hand morphology	55612	FERMT1	ORPHA:2908
HP:0005922	Abnormal hand morphology	9361	LONP1	OMIM:600373
HP:0005922	Abnormal hand morphology	9361	LONP1	ORPHA:1458
HP:0005922	Abnormal hand morphology	55733	HHAT	OMIM:600092
HP:0005922	Abnormal hand morphology	55733	HHAT	ORPHA:1422
HP:0005922	Abnormal hand morphology	114803	MYSM1	ORPHA:508542
HP:0005922	Abnormal hand morphology	149775	GNAS-AS1	OMIM:603233
HP:0005922	Abnormal hand morphology	8675	STX16	OMIM:603233
HP:0005922	Abnormal hand morphology	64175	P3H1	OMIM:610915
HP:0005922	Abnormal hand morphology	5139	PDE3A	OMIM:112410
HP:0005922	Abnormal hand morphology	5139	PDE3A	ORPHA:1276
HP:0005922	Abnormal hand morphology	5593	PRKG2	OMIM:619636
HP:0005922	Abnormal hand morphology	4810	NHS	ORPHA:627
HP:0005922	Abnormal hand morphology	5130	PCYT1A	ORPHA:85167
HP:0005922	Abnormal hand morphology	5130	PCYT1A	OMIM:608940
HP:0005922	Abnormal hand morphology	54928	BPNT2	OMIM:614078
HP:0005922	Abnormal hand morphology	4148	MATN3	OMIM:607078
HP:0005922	Abnormal hand morphology	55252	ASXL2	OMIM:617190
HP:0005922	Abnormal hand morphology	5264	PHYH	ORPHA:773
HP:0005922	Abnormal hand morphology	5191	PEX7	ORPHA:773
HP:0005922	Abnormal hand morphology	1788	DNMT3A	OMIM:618724
HP:0005922	Abnormal hand morphology	54101	RIPK4	OMIM:263650
HP:0005922	Abnormal hand morphology	83452	RAB33B	OMIM:615222
HP:0005922	Abnormal hand morphology	91252	SLC39A13	OMIM:612350
HP:0005922	Abnormal hand morphology	25871	NEPRO	OMIM:618853
HP:0005922	Abnormal hand morphology	6399	TRAPPC2	ORPHA:93284
HP:0005922	Abnormal hand morphology	2074	ERCC6	OMIM:133540
HP:0005922	Abnormal hand morphology	1161	ERCC8	OMIM:216400
HP:0005922	Abnormal hand morphology	4883	NPR3	OMIM:619543
HP:0005922	Abnormal hand morphology	91949	COG7	OMIM:608779
HP:0005922	Abnormal hand morphology	80347	COASY	OMIM:618266
HP:0005922	Abnormal hand morphology	285489	DOK7	OMIM:618389
HP:0005922	Abnormal hand morphology	348180	CTU2	OMIM:618142
HP:0005922	Abnormal hand morphology	1272	CNTN1	OMIM:612540
HP:0005922	Abnormal hand morphology	256297	PTF1A	OMIM:609069
HP:0005922	Abnormal hand morphology	129285	PPP1R21	OMIM:619383
HP:0005922	Abnormal hand morphology	91754	NEK9	OMIM:617022
HP:0005922	Abnormal hand morphology	8567	MADD	OMIM:619004
HP:0005922	Abnormal hand morphology	5297	PI4KA	OMIM:616531
HP:0005922	Abnormal hand morphology	5297	PI4KA	OMIM:619708
HP:0005922	Abnormal hand morphology	1822	ATN1	OMIM:618494
HP:0005922	Abnormal hand morphology	8985	PLOD3	OMIM:612394
HP:0005922	Abnormal hand morphology	5591	PRKDC	OMIM:615966
HP:0005922	Abnormal hand morphology	9772	TMEM94	OMIM:618316
HP:0005922	Abnormal hand morphology	10216	PRG4	OMIM:208250
HP:0005922	Abnormal hand morphology	10804	GJB6	ORPHA:189
HP:0005922	Abnormal hand morphology	654	BMP6	ORPHA:465508
HP:0005922	Abnormal hand morphology	3077	HFE	ORPHA:465508
HP:0005922	Abnormal hand morphology	6775	STAT4	ORPHA:85408
HP:0005922	Abnormal hand morphology	3560	IL2RB	ORPHA:85408
HP:0005922	Abnormal hand morphology	79722	ANKRD55	ORPHA:85408
HP:0005922	Abnormal hand morphology	26191	PTPN22	ORPHA:85408
HP:0005922	Abnormal hand morphology	919	CD247	ORPHA:85408
HP:0005922	Abnormal hand morphology	3559	IL2RA	ORPHA:85408
HP:0005922	Abnormal hand morphology	5771	PTPN2	ORPHA:85408
HP:0005922	Abnormal hand morphology	10466	COG5	ORPHA:263487
HP:0005922	Abnormal hand morphology	8092	ALX1	ORPHA:306542
HP:0005922	Abnormal hand morphology	84342	COG8	OMIM:611182
HP:0005922	Abnormal hand morphology	2036	EPB41L1	OMIM:614257
HP:0005922	Abnormal hand morphology	1747	DLX3	ORPHA:3352
HP:0005922	Abnormal hand morphology	91461	PKDCC	OMIM:618821
HP:0005922	Abnormal hand morphology	388015	RTL1	ORPHA:96334
HP:0005922	Abnormal hand morphology	8788	DLK1	ORPHA:96334
HP:0005922	Abnormal hand morphology	55384	MEG3	ORPHA:96334
HP:0005922	Abnormal hand morphology	3767	KCNJ11	ORPHA:79134
HP:0005922	Abnormal hand morphology	79731	NARS2	ORPHA:79134
HP:0005922	Abnormal hand morphology	6833	ABCC8	ORPHA:79134
HP:0005922	Abnormal hand morphology	9698	PUM1	OMIM:617931
HP:0005922	Abnormal hand morphology	781	CACNA2D1	OMIM:620149
HP:0005922	Abnormal hand morphology	123263	MTFMT	OMIM:614947
HP:0005922	Abnormal hand morphology	27125	AFF4	ORPHA:444077
HP:0005922	Abnormal hand morphology	6792	CDKL5	ORPHA:3095
HP:0005922	Abnormal hand morphology	6792	CDKL5	OMIM:300672
HP:0005922	Abnormal hand morphology	22854	NTNG1	ORPHA:3095
HP:0005922	Abnormal hand morphology	9568	GABBR2	ORPHA:3095
HP:0005922	Abnormal hand morphology	9568	GABBR2	OMIM:617903
HP:0005922	Abnormal hand morphology	79868	ALG13	OMIM:300884
HP:0005922	Abnormal hand morphology	6651	SON	OMIM:617140
HP:0005922	Abnormal hand morphology	6492	SIM1	ORPHA:398079
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177904
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177901
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177910
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:98754
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:177904
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:177901
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:98754
HP:0005922	Abnormal hand morphology	2590	GALNT2	OMIM:618885
HP:0005922	Abnormal hand morphology	80204	FBXO11	OMIM:618089
HP:0005922	Abnormal hand morphology	3064	HTT	OMIM:617435
HP:0005922	Abnormal hand morphology	10381	TUBB3	ORPHA:300570
HP:0005922	Abnormal hand morphology	1147	CHUK	OMIM:619339
HP:0005922	Abnormal hand morphology	3248	HPGD	ORPHA:2796
HP:0005922	Abnormal hand morphology	6578	SLCO2A1	ORPHA:2796
HP:0005922	Abnormal hand morphology	7703	PCGF2	OMIM:618371
HP:0005922	Abnormal hand morphology	6045	RNF2	OMIM:619460
HP:0005922	Abnormal hand morphology	1501	CTNND2	ORPHA:281
HP:0005922	Abnormal hand morphology	9037	SEMA5A	ORPHA:281
HP:0005922	Abnormal hand morphology	6304	SATB1	OMIM:619229
HP:0005922	Abnormal hand morphology	55768	NGLY1	OMIM:615273
HP:0005922	Abnormal hand morphology	8493	PPM1D	OMIM:617450
HP:0005922	Abnormal hand morphology	8558	CDK10	OMIM:617694
HP:0005922	Abnormal hand morphology	8239	USP9X	ORPHA:480880
HP:0005922	Abnormal hand morphology	8239	USP9X	OMIM:300968
HP:0005922	Abnormal hand morphology	285175	UNC80	ORPHA:371364
HP:0005922	Abnormal hand morphology	7486	WRN	ORPHA:902
HP:0005922	Abnormal hand morphology	3800	KIF5C	OMIM:615282
HP:0005922	Abnormal hand morphology	81887	LAS1L	ORPHA:3459
HP:0005922	Abnormal hand morphology	2332	FMR1	ORPHA:261483
HP:0005922	Abnormal hand morphology	388662	SLC6A17	OMIM:616269
HP:0005922	Abnormal hand morphology	23219	FBXO28	OMIM:619777
HP:0005922	Abnormal hand morphology	5557	PRIM1	OMIM:620005
HP:0005922	Abnormal hand morphology	406932	MIR140	OMIM:618618
HP:0005922	Abnormal hand morphology	1801	DPH1	ORPHA:459061
HP:0005922	Abnormal hand morphology	3762	KCNJ5	ORPHA:37553
HP:0005922	Abnormal hand morphology	1281	COL3A1	ORPHA:2500
HP:0005922	Abnormal hand morphology	10075	HUWE1	OMIM:309590
HP:0005923	Abnormal hand metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0005923	Abnormal hand metaphysis morphology	1280	COL2A1	ORPHA:166011
HP:0005924	Abnormal hand epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0005924	Abnormal hand epiphysis morphology	5447	POR	ORPHA:95699
HP:0005924	Abnormal hand epiphysis morphology	1280	COL2A1	OMIM:619248
HP:0005924	Abnormal hand epiphysis morphology	2121	EVC	OMIM:225500
HP:0005924	Abnormal hand epiphysis morphology	132884	EVC2	OMIM:225500
HP:0005924	Abnormal hand epiphysis morphology	3549	IHH	OMIM:607778
HP:0005924	Abnormal hand epiphysis morphology	3549	IHH	ORPHA:63446
HP:0005924	Abnormal hand epiphysis morphology	633	BGN	OMIM:300106
HP:0005924	Abnormal hand epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005924	Abnormal hand epiphysis morphology	4256	MGP	OMIM:245150
HP:0005924	Abnormal hand epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005924	Abnormal hand epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005924	Abnormal hand epiphysis morphology	25839	COG4	OMIM:618150
HP:0005924	Abnormal hand epiphysis morphology	5116	PCNT	OMIM:210720
HP:0005924	Abnormal hand epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005924	Abnormal hand epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	8200	GDF5	OMIM:113100
HP:0005924	Abnormal hand epiphysis morphology	658	BMPR1B	ORPHA:93384
HP:0005924	Abnormal hand epiphysis morphology	3756	KCNH1	OMIM:611816
HP:0005924	Abnormal hand epiphysis morphology	59341	TRPV4	ORPHA:93314
HP:0005924	Abnormal hand epiphysis morphology	54808	DYM	OMIM:223800
HP:0005924	Abnormal hand epiphysis morphology	4882	NPR2	OMIM:602875
HP:0005924	Abnormal hand epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0005924	Abnormal hand epiphysis morphology	26160	IFT172	OMIM:615630
HP:0005924	Abnormal hand epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0005924	Abnormal hand epiphysis morphology	2131	EXT1	ORPHA:502
HP:0005924	Abnormal hand epiphysis morphology	9742	IFT140	OMIM:617781
HP:0005924	Abnormal hand epiphysis morphology	9742	IFT140	OMIM:266920
HP:0005924	Abnormal hand epiphysis morphology	860	RUNX2	OMIM:119600
HP:0005924	Abnormal hand epiphysis morphology	9321	TRIP11	OMIM:184260
HP:0005924	Abnormal hand epiphysis morphology	375056	MIA3	OMIM:619269
HP:0005924	Abnormal hand epiphysis morphology	51098	IFT52	OMIM:617102
HP:0005924	Abnormal hand epiphysis morphology	2261	FGFR3	OMIM:602849
HP:0005924	Abnormal hand epiphysis morphology	2316	FLNA	OMIM:309350
HP:0005924	Abnormal hand epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0005924	Abnormal hand epiphysis morphology	545	ATR	OMIM:210600
HP:0005924	Abnormal hand epiphysis morphology	5573	PRKAR1A	OMIM:101800
HP:0005924	Abnormal hand epiphysis morphology	6023	RMRP	OMIM:250460
HP:0005924	Abnormal hand epiphysis morphology	6399	TRAPPC2	ORPHA:93284
HP:0005924	Abnormal hand epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0005924	Abnormal hand epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0005924	Abnormal hand epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0005924	Abnormal hand epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0005924	Abnormal hand epiphysis morphology	1311	COMP	OMIM:177170
HP:0005924	Abnormal hand epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0005924	Abnormal hand epiphysis morphology	10847	SRCAP	OMIM:136140
HP:0005924	Abnormal hand epiphysis morphology	415	ARSL	ORPHA:79345
HP:0005924	Abnormal hand epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0005924	Abnormal hand epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005924	Abnormal hand epiphysis morphology	51715	RAB23	OMIM:201000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	157570	ESCO2	OMIM:268300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7480	WNT10B	OMIM:225300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7476	WNT7A	OMIM:228930
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7476	WNT7A	ORPHA:2879
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7476	WNT7A	OMIM:276820
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25836	NIPBL	OMIM:122470
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6154	RPL26	OMIM:614900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64093	SMOC1	OMIM:206920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64093	SMOC1	ORPHA:1106
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1749	DLX5	OMIM:183600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10262	SF3B4	ORPHA:1788
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3835	KIF22	OMIM:603546
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23233	EXOC6B	OMIM:618395
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54187	NANS	OMIM:610442
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79158	GNPTAB	OMIM:252600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79158	GNPTAB	OMIM:252500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9939	RBM8A	OMIM:274000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5832	ALDH18A1	OMIM:601162
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8517	IKBKG	ORPHA:464
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5980	REV3L	ORPHA:570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23129	PLXND1	ORPHA:570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1750	DLX6	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7979	SEM1	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8945	BTRC	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8626	TP63	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	58513	EPS15L1	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6468	FBXW4	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3516	RBPJ	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4851	NOTCH1	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57514	ARHGAP31	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57572	DOCK6	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285203	EOGT	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54567	DLL4	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55636	CHD7	OMIM:214800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	727857	BHLHA9	ORPHA:1986
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7021	TFAP2B	ORPHA:46627
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3481	IGF2	OMIM:180860
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51199	NIN	ORPHA:319675
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51199	NIN	OMIM:614851
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2783	GNB2	OMIM:619503
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5932	RBBP8	OMIM:251255
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3480	IGF1R	ORPHA:73273
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22827	PUF60	ORPHA:508498
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2245	FGD1	OMIM:305400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2245	FGD1	ORPHA:915
HP:0005927	Aplasia/hypoplasia involving bones of the hand	124997	WDR81	OMIM:610185
HP:0005927	Aplasia/hypoplasia involving bones of the hand	118429	ANTXR2	ORPHA:2176
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7681	MKRN3	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3653	IPW	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54551	MAGEL2	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	791114	PWRN1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	100033413	SNORD116-1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8924	HERC2	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	145624	PWAR1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23742	NPAP1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	338433	SNORD115-1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55112	DYNC2I1	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57539	WDR35	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79659	DYNC2H1	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89891	DYNC2I2	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	613	BCR	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1399	CRKL	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5594	MAPK1	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2623	GATA1	OMIM:190685
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23030	KDM4B	OMIM:619320
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79639	TMEM53	OMIM:619727
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55249	YY1AP1	ORPHA:79094
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10982	MAPRE2	OMIM:616734
HP:0005927	Aplasia/hypoplasia involving bones of the hand	818	CAMK2G	OMIM:618522
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4998	ORC1	OMIM:224690
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1778	DYNC1H1	OMIM:614563
HP:0005927	Aplasia/hypoplasia involving bones of the hand	222663	SCUBE3	OMIM:619184
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80311	KLHL15	OMIM:300982
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10943	MSL3	OMIM:301032
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1301	COL11A1	OMIM:228520
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55012	PPP2R3C	OMIM:618419
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25942	SIN3A	OMIM:613406
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51763	INPP5K	ORPHA:559
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9244	CRLF1	OMIM:272430
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4000	LMNA	ORPHA:79474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2254	FGF9	ORPHA:3237
HP:0005927	Aplasia/hypoplasia involving bones of the hand	538	ATP7A	ORPHA:198
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6905	TBCE	OMIM:241410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6905	TBCE	OMIM:244460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1857	DVL3	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7474	WNT5A	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7474	WNT5A	OMIM:180700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1855	DVL1	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1855	DVL1	OMIM:180700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9791	PTDSS1	ORPHA:2658
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2121	EVC	OMIM:193530
HP:0005927	Aplasia/hypoplasia involving bones of the hand	132884	EVC2	OMIM:193530
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10013	HDAC6	ORPHA:163966
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79753	SNIP1	OMIM:614501
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9719	ADAMTSL2	OMIM:231050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4796	TONSL	ORPHA:93357
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10236	HNRNPR	OMIM:620073
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79718	TBL1XR1	OMIM:602342
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1298	COL9A2	OMIM:600204
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285590	SH3PXD2B	OMIM:249420
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5159	PDGFRB	OMIM:601812
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23522	KAT6B	ORPHA:85201
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3845	KRAS	ORPHA:3339
HP:0005927	Aplasia/hypoplasia involving bones of the hand	28957	MRPS28	OMIM:618958
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23261	CAMTA1	OMIM:614756
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8450	CUL4B	ORPHA:85293
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6925	TCF4	OMIM:610954
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5295	PIK3R1	ORPHA:3163
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8813	DPM1	OMIM:608799
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10743	RAI1	OMIM:182290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8242	KDM5C	ORPHA:85279
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51322	WAC	ORPHA:466950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	147372	CCBE1	OMIM:235510
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29123	ANKRD11	OMIM:148050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2719	GPC3	OMIM:312870
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2239	GPC4	OMIM:312870
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4089	SMAD4	ORPHA:2588
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59341	TRPV4	OMIM:606835
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59341	TRPV4	ORPHA:93314
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59341	TRPV4	ORPHA:85169
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55777	MBD5	OMIM:156200
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4613	MYCN	ORPHA:391641
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4613	MYCN	OMIM:164280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1300	COL10A1	OMIM:156500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2261	FGFR3	ORPHA:15
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2261	FGFR3	OMIM:602849
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5422	POLA1	OMIM:301030
HP:0005927	Aplasia/hypoplasia involving bones of the hand	652	BMP4	OMIM:607932
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9742	IFT140	OMIM:266920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4920	ROR2	OMIM:113000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8085	KMT2D	ORPHA:2322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7403	KDM6A	ORPHA:2322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51053	GMNN	OMIM:616835
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5116	PCNT	OMIM:210720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22995	CEP152	OMIM:613823
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55081	IFT57	OMIM:617927
HP:0005927	Aplasia/hypoplasia involving bones of the hand	407975	MIR17HG	ORPHA:391646
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4297	KMT2A	OMIM:605130
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2263	FGFR2	OMIM:101600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84295	PHF6	OMIM:301900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3209	HOXA13	OMIM:140000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3209	HOXA13	ORPHA:2438
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9451	EIF2AK3	OMIM:226980
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84992	PIGY	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84992	PIGY	OMIM:616809
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84720	PIGO	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84720	PIGO	OMIM:614749
HP:0005927	Aplasia/hypoplasia involving bones of the hand	93210	PGAP3	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	93210	PGAP3	OMIM:615716
HP:0005927	Aplasia/hypoplasia involving bones of the hand	284098	PIGW	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27315	PGAP2	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27315	PGAP2	OMIM:614207
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55650	PIGV	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9487	PIGL	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57020	VPS35L	OMIM:619135
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4256	MGP	OMIM:245150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2972	BRF1	OMIM:616202
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29929	ALG6	ORPHA:79320
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23556	PIGN	ORPHA:280633
HP:0005927	Aplasia/hypoplasia involving bones of the hand	672	BRCA1	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10459	MAD2L2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29089	UBE2T	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	675	BRCA2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55120	FANCL	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2175	FANCA	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2187	FANCB	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2176	FANCC	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2178	FANCE	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2188	FANCF	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2189	FANCG	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5888	RAD51	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5889	RAD51C	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55159	RFWD3	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	83990	BRIP1	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57697	FANCM	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79728	PALB2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84464	SLX4	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2072	ERCC4	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2697	GJA1	OMIM:186100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	526	ATP6V1B2	OMIM:124480
HP:0005927	Aplasia/hypoplasia involving bones of the hand	56992	KIF15	ORPHA:261323
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23162	MAPK8IP3	OMIM:618443
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5648	MASP1	OMIM:257920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6597	SMARCA4	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6597	SMARCA4	OMIM:614609
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6598	SMARCB1	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6659	SOX4	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5977	DPF2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6601	SMARCC2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6602	SMARCD1	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57492	ARID1B	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	196528	ARID2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5879	RAC1	ORPHA:500159
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9820	CUL7	OMIM:273750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23363	OBSL1	OMIM:612921
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4848	CNOT2	OMIM:618608
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5286	PIK3C2A	ORPHA:557003
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1327	COX4I1	OMIM:619060
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1028	CDKN1C	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5324	PLAG1	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8091	HMGA2	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2122	MECOM	OMIM:616738
HP:0005927	Aplasia/hypoplasia involving bones of the hand	242	ALOX12B	OMIM:242100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59344	ALOXE3	OMIM:242100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8820	HESX1	OMIM:182230
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8820	HESX1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26154	ABCA12	OMIM:242500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7840	ALMS1	ORPHA:64
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9131	AIFM1	OMIM:300232
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6134	RPL10	OMIM:300998
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6134	RPL10	ORPHA:459070
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5626	PROP1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89884	LHX4	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8022	LHX3	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5449	POU1F1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4038	LRP4	OMIM:614305
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7750	ZMYM2	OMIM:619522
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9578	CDC42BPB	OMIM:619841
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8481	OFD1	OMIM:300209
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55784	MCTP2	ORPHA:1596
HP:0005927	Aplasia/hypoplasia involving bones of the hand	176	ACAN	OMIM:612813
HP:0005927	Aplasia/hypoplasia involving bones of the hand	427	ASAH1	ORPHA:333
HP:0005927	Aplasia/hypoplasia involving bones of the hand	444	ASPH	OMIM:601552
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1513	CTSK	ORPHA:763
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84823	LMNB2	OMIM:619180
HP:0005927	Aplasia/hypoplasia involving bones of the hand	164	AP1G1	OMIM:619467
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57178	ZMIZ1	OMIM:618659
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1146	CHRNG	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1144	CHRND	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1134	CHRNA1	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6792	CDKL5	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3736	KCNA1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9091	PIGQ	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2775	GNAO1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81603	TRIM8	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2902	GRIN1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79751	SLC25A22	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	150094	SIK1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8573	CASK	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23312	DMXL2	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2917	GRM7	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	170302	ARX	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	11284	PNKP	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6326	SCN2A	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51227	PIGP	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6324	SCN1B	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4761	NEUROD2	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26123	TCTN3	OMIM:258860
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2019	EN1	OMIM:619218
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4212	MEIS2	OMIM:600987
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10265	IRX5	OMIM:611174
HP:0005927	Aplasia/hypoplasia involving bones of the hand	50814	NSDHL	OMIM:308050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27152	INTU	OMIM:617926
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9935	MAFB	ORPHA:233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1123	CHN1	ORPHA:233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3981	LIG4	ORPHA:235
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54888	NSUN2	ORPHA:235
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5925	RB1	ORPHA:1587
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80144	FRAS1	OMIM:219000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3756	KCNH1	ORPHA:420561
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4750	NEK1	ORPHA:2751
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6910	TBX5	ORPHA:392
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6910	TBX5	OMIM:142900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6651	SON	ORPHA:500150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	340419	RSPO2	OMIM:618022
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8452	CUL3	OMIM:619239
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5718	PSMD12	OMIM:617516
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6223	RPS19	OMIM:105650
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6223	RPS19	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6135	RPL11	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6138	RPL15	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6229	RPS24	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6125	RPL5	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6204	RPS10	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6224	RPS20	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6165	RPL35A	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6232	RPS27	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6231	RPS26	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	11224	RPL35	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6160	RPL31	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6218	RPS17	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6201	RPS7	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6155	RPL27	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6210	RPS15A	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90121	TSR2	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6141	RPL18	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6235	RPS29	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6234	RPS28	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51816	ADA2	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2255	FGF10	ORPHA:2363
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23028	KDM1A	OMIM:616728
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23028	KDM1A	ORPHA:477993
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29998	BICRA	OMIM:619325
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1723	DHODH	OMIM:263750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	324	APC	ORPHA:3258
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54880	BCOR	ORPHA:2712
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7020	TFAP2A	OMIM:113620
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1717	DHCR7	OMIM:270400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10815	CPLX1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10815	CPLX1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54872	PIGG	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7469	NELFA	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1487	CTBP1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1487	CTBP1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3954	LETM1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3954	LETM1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7468	NSD2	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7468	NSD2	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	53834	FGFRL1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1387	CREBBP	OMIM:180849
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2033	EP300	OMIM:180849
HP:0005927	Aplasia/hypoplasia involving bones of the hand	91461	PKDCC	OMIM:618821
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80036	TRPM3	OMIM:620224
HP:0005927	Aplasia/hypoplasia involving bones of the hand	374879	ZNF699	OMIM:619488
HP:0005927	Aplasia/hypoplasia involving bones of the hand	50515	CHST11	OMIM:618167
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9968	MED12	OMIM:300895
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4053	LTBP2	ORPHA:3449
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81794	ADAMTS10	ORPHA:3449
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26100	WIPI2	OMIM:618453
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9488	PIGB	OMIM:618580
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10617	STAMBP	OMIM:614261
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2335	FN1	ORPHA:93315
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51412	ACTL6B	OMIM:618470
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57465	TBC1D24	OMIM:220500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57465	TBC1D24	ORPHA:79500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3764	KCNJ8	ORPHA:1517
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10060	ABCC9	ORPHA:1517
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10651	MTX2	ORPHA:90153
HP:0005927	Aplasia/hypoplasia involving bones of the hand	112752	IFT43	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55764	IFT122	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55764	IFT122	OMIM:218330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57728	WDR19	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57728	WDR19	OMIM:614378
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	ORPHA:2963
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	ORPHA:2095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	OMIM:612289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4784	NFIX	OMIM:602535
HP:0005927	Aplasia/hypoplasia involving bones of the hand	24140	FTSJ1	OMIM:309549
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64359	NXN	ORPHA:1507
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8289	ARID1A	OMIM:614607
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5566	PRKACA	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5567	PRKACB	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2735	GLI1	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51626	DYNC2LI1	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9419	CRIPT	OMIM:615789
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3782	KCNN3	OMIM:618658
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4853	NOTCH2	ORPHA:955
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54	ACP5	ORPHA:1855
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5281	PIGF	OMIM:619356
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2677	GGCX	OMIM:277450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	415	ARSL	ORPHA:79345
HP:0005927	Aplasia/hypoplasia involving bones of the hand	415	ARSL	OMIM:302950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26137	ZBTB20	OMIM:259050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	60401	EDA2R	ORPHA:181
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1896	EDA	ORPHA:181
HP:0005927	Aplasia/hypoplasia involving bones of the hand	28952	CCDC22	OMIM:300963
HP:0005927	Aplasia/hypoplasia involving bones of the hand	182	JAG1	OMIM:118450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7291	TWIST1	OMIM:617746
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6605	SMARCE1	OMIM:616938
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1186	CLCN7	ORPHA:53
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2702	GJA5	OMIM:612474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2703	GJA8	OMIM:612474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6664	SOX11	OMIM:615866
HP:0005927	Aplasia/hypoplasia involving bones of the hand	865	CBFB	OMIM:620099
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2535	FZD2	OMIM:164745
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2535	FZD2	ORPHA:93328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23476	BRD4	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9126	SMC3	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8243	SMC1A	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55869	HDAC8	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5885	RAD21	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90	ACVR1	OMIM:135100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55215	FANCI	OMIM:609053
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6662	SOX9	OMIM:114290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26040	SETBP1	OMIM:269150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26040	SETBP1	ORPHA:798
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388015	RTL1	ORPHA:96334
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8788	DLK1	ORPHA:96334
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55384	MEG3	ORPHA:96334
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3911	LAMA5	OMIM:620076
HP:0005927	Aplasia/hypoplasia involving bones of the hand	124583	CANT1	OMIM:251450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7516	XRCC2	OMIM:617247
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2177	FANCD2	OMIM:227646
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9896	FIG4	ORPHA:3472
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55697	VAC14	ORPHA:3472
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6469	SHH	ORPHA:93321
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7204	TRIO	ORPHA:476126
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2737	GLI3	ORPHA:93322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	658	BMPR1B	ORPHA:93396
HP:0005927	Aplasia/hypoplasia involving bones of the hand	94005	PIGS	OMIM:618143
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6473	SHOX	OMIM:127300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6736	SRY	ORPHA:1772
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79633	FAT4	OMIM:615546
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8642	DCHS1	OMIM:601390
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26224	FBXL3	OMIM:606220
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5727	PTCH1	OMIM:109400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6926	TBX3	OMIM:181450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55612	FERMT1	ORPHA:2908
HP:0005927	Aplasia/hypoplasia involving bones of the hand	650	BMP2	OMIM:617877
HP:0005927	Aplasia/hypoplasia involving bones of the hand	374969	SVBP	OMIM:618569
HP:0005927	Aplasia/hypoplasia involving bones of the hand	860	RUNX2	OMIM:156510
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8823	FGF16	OMIM:309630
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9241	NOG	OMIM:185800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64327	LMBR1	OMIM:200500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57167	SALL4	OMIM:607323
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2137	EXTL3	ORPHA:508533
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1280	COL2A1	OMIM:271700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1280	COL2A1	OMIM:609162
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9361	LONP1	OMIM:600373
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9361	LONP1	ORPHA:1458
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5573	PRKAR1A	ORPHA:950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5573	PRKAR1A	OMIM:101800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5573	PRKAR1A	ORPHA:280651
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	ORPHA:950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	ORPHA:439822
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	OMIM:614613
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	ORPHA:280651
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64374	SIL1	OMIM:248800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4921	DDR2	OMIM:271665
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54808	DYM	OMIM:607326
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54808	DYM	OMIM:223800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2131	EXT1	OMIM:133700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2131	EXT1	ORPHA:321
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2132	EXT2	OMIM:133701
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2132	EXT2	ORPHA:321
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2879	GPX4	ORPHA:93317
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2879	GPX4	OMIM:250220
HP:0005927	Aplasia/hypoplasia involving bones of the hand	100151683	RNU4ATAC	OMIM:210710
HP:0005927	Aplasia/hypoplasia involving bones of the hand	100151683	RNU4ATAC	OMIM:616651
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6885	MAP3K7	OMIM:617137
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6885	MAP3K7	ORPHA:1826
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9759	HDAC4	ORPHA:1001
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9759	HDAC4	OMIM:600430
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89970	RSPRY1	OMIM:616723
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89970	RSPRY1	ORPHA:457395
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55733	HHAT	OMIM:600092
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55733	HHAT	ORPHA:1422
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5447	POR	ORPHA:95699
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	ORPHA:56304
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	ORPHA:93307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	OMIM:226900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	114803	MYSM1	ORPHA:508542
HP:0005927	Aplasia/hypoplasia involving bones of the hand	149775	GNAS-AS1	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8675	STX16	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:612463
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:612462
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	ORPHA:79443
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	ORPHA:79444
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:103580
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8200	GDF5	OMIM:228900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8200	GDF5	ORPHA:968
HP:0005927	Aplasia/hypoplasia involving bones of the hand	117581	TWIST2	OMIM:200110
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10847	SRCAP	ORPHA:2044
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25782	RAB3GAP2	OMIM:212720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5744	PTHLH	ORPHA:93387
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5744	PTHLH	OMIM:613382
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3239	HOXD13	ORPHA:93387
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3239	HOXD13	OMIM:113300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10225	CD96	OMIM:211750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64175	P3H1	OMIM:610915
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6197	RPS6KA3	OMIM:303600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6197	RPS6KA3	ORPHA:192
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9469	CHST3	ORPHA:263463
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9469	CHST3	OMIM:143095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54496	PRMT7	OMIM:617157
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64131	XYLT1	OMIM:615777
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	ORPHA:969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	OMIM:608328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	OMIM:102370
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4054	LTBP3	ORPHA:969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3759	KCNJ2	OMIM:170390
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:108720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:272460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:150250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	157680	VPS13B	OMIM:216550
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5139	PDE3A	OMIM:112410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5139	PDE3A	ORPHA:1276
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3549	IHH	OMIM:607778
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3549	IHH	OMIM:112500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	633	BGN	OMIM:300106
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5745	PTH1R	ORPHA:50945
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1311	COMP	OMIM:132400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1311	COMP	OMIM:177170
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29980	DONSON	OMIM:617604
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64840	PORCN	OMIM:305600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4882	NPR2	OMIM:602875
HP:0005927	Aplasia/hypoplasia involving bones of the hand	145173	B3GLCT	OMIM:261540
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9401	RECQL4	ORPHA:221016
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5593	PRKG2	OMIM:619636
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10283	CWC27	OMIM:250410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10283	CWC27	ORPHA:166035
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4810	NHS	ORPHA:627
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25839	COG4	OMIM:618150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3636	INPPL1	OMIM:258480
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9321	TRIP11	OMIM:184260
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5130	PCYT1A	ORPHA:85167
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5130	PCYT1A	OMIM:608940
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54928	BPNT2	OMIM:614078
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51098	IFT52	OMIM:617102
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1299	COL9A3	OMIM:600969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2316	FLNA	OMIM:304120
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2316	FLNA	ORPHA:1826
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4148	MATN3	OMIM:607078
HP:0005927	Aplasia/hypoplasia involving bones of the hand	126792	B3GALT6	OMIM:271640
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55252	ASXL2	OMIM:617190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3930	LBR	OMIM:215140
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5264	PHYH	ORPHA:773
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5191	PEX7	ORPHA:773
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23483	TGDS	OMIM:616145
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2260	FGFR1	OMIM:166250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1788	DNMT3A	OMIM:618724
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1302	COL11A2	ORPHA:1427
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22856	CHSY1	OMIM:605282
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6595	SMARCA2	OMIM:601358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9775	EIF4A3	OMIM:268305
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54101	RIPK4	OMIM:263650
HP:0005927	Aplasia/hypoplasia involving bones of the hand	83452	RAB33B	OMIM:615222
HP:0005927	Aplasia/hypoplasia involving bones of the hand	91252	SLC39A13	OMIM:612350
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57560	IFT80	OMIM:611263
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25871	NEPRO	OMIM:618853
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7227	TRPS1	OMIM:190350
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7227	TRPS1	OMIM:190351
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7227	TRPS1	ORPHA:77258
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90417	KNSTRN	OMIM:613328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5293	PIK3CD	OMIM:613328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25886	POC1A	OMIM:614813
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6023	RMRP	OMIM:250460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64682	ANAPC1	ORPHA:221008
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1954	MEGF8	OMIM:614976
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2475	MTOR	OMIM:616638
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26128	KIFBP	OMIM:609460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9698	PUM1	OMIM:617931
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23394	ADNP	OMIM:615873
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23314	SATB2	ORPHA:251028
HP:0005927	Aplasia/hypoplasia involving bones of the hand	781	CACNA2D1	OMIM:620149
HP:0005927	Aplasia/hypoplasia involving bones of the hand	123263	MTFMT	OMIM:614947
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27125	AFF4	ORPHA:444077
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22854	NTNG1	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9568	GABBR2	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9568	GABBR2	OMIM:617903
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4204	MECP2	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4204	MECP2	OMIM:300055
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79868	ALG13	OMIM:300884
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1062	CENPE	OMIM:616051
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6492	SIM1	ORPHA:398079
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9382	COG1	OMIM:611209
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177910
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177907
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177910
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2590	GALNT2	OMIM:618885
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80204	FBXO11	OMIM:618089
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3064	HTT	OMIM:617435
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10381	TUBB3	ORPHA:300570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1147	CHUK	OMIM:619339
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3248	HPGD	ORPHA:2796
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6578	SLCO2A1	ORPHA:2796
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7703	PCGF2	OMIM:618371
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6045	RNF2	OMIM:619460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1501	CTNND2	ORPHA:281
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9037	SEMA5A	ORPHA:281
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23384	SPECC1L	OMIM:145420
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6304	SATB1	OMIM:619229
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55768	NGLY1	OMIM:615273
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7874	USP7	ORPHA:500055
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8493	PPM1D	OMIM:617450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8558	CDK10	OMIM:617694
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8239	USP9X	ORPHA:480880
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8239	USP9X	OMIM:300968
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9894	TELO2	ORPHA:488642
HP:0005927	Aplasia/hypoplasia involving bones of the hand	259232	NALCN	ORPHA:371364
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285175	UNC80	ORPHA:371364
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7486	WRN	ORPHA:902
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3800	KIF5C	OMIM:615282
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4849	CNOT3	OMIM:618672
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81887	LAS1L	ORPHA:3459
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2332	FMR1	ORPHA:261483
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2186	BPTF	OMIM:617755
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388662	SLC6A17	OMIM:616269
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23219	FBXO28	OMIM:619777
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5557	PRIM1	OMIM:620005
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9130	FAM50A	OMIM:300261
HP:0005927	Aplasia/hypoplasia involving bones of the hand	406932	MIR140	OMIM:618618
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1801	DPH1	ORPHA:459061
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3762	KCNJ5	ORPHA:37553
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1281	COL3A1	ORPHA:2500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10075	HUWE1	OMIM:309590
HP:0005928	Synostosis involving the fibula	2737	GLI3	ORPHA:93322
HP:0005928	Synostosis involving the fibula	5447	POR	ORPHA:95699
HP:0005929	Synostosis involving the tibia	2737	GLI3	ORPHA:93322
HP:0005929	Synostosis involving the tibia	5447	POR	ORPHA:95699
HP:0500134	Hypertryptophanemia	6999	TDO2	OMIM:600627
HP:0500139	Hypoprolinemia	5832	ALDH18A1	OMIM:219150
HP:0005932	Abnormal renal corticomedullary differentiation	7249	TSC2	OMIM:613254
HP:0005932	Abnormal renal corticomedullary differentiation	3458	IFNG	OMIM:613254
HP:0005932	Abnormal renal corticomedullary differentiation	8364	H4C3	OMIM:619758
HP:0005932	Abnormal renal corticomedullary differentiation	27130	INVS	OMIM:602088
HP:0005932	Abnormal renal corticomedullary differentiation	5087	PBX1	OMIM:617641
HP:0005932	Abnormal renal corticomedullary differentiation	5076	PAX2	OMIM:120330
HP:0005932	Abnormal renal corticomedullary differentiation	81	ACTN4	OMIM:603278
HP:0005932	Abnormal renal corticomedullary differentiation	7809	BSND	OMIM:602522
HP:0005932	Abnormal renal corticomedullary differentiation	26276	VPS33B	OMIM:208085
HP:0005932	Abnormal renal corticomedullary differentiation	1186	CLCN7	OMIM:618541
HP:0005932	Abnormal renal corticomedullary differentiation	9742	IFT140	OMIM:266920
HP:0005932	Abnormal renal corticomedullary differentiation	7289	TULP3	OMIM:619902
HP:0005932	Abnormal renal corticomedullary differentiation	199221	DZIP1L	OMIM:617610
HP:0005932	Abnormal renal corticomedullary differentiation	199221	DZIP1L	ORPHA:731
HP:0005932	Abnormal renal corticomedullary differentiation	80184	CEP290	OMIM:610188
HP:0005932	Abnormal renal corticomedullary differentiation	25836	NIPBL	OMIM:122470
HP:0005932	Abnormal renal corticomedullary differentiation	51473	DCDC2	ORPHA:84081
HP:0005932	Abnormal renal corticomedullary differentiation	91147	TMEM67	ORPHA:84081
HP:0005932	Abnormal renal corticomedullary differentiation	8449	DHX16	OMIM:618733
HP:0005932	Abnormal renal corticomedullary differentiation	10015	PDCD6IP	OMIM:620047
HP:0005932	Abnormal renal corticomedullary differentiation	5314	PKHD1	ORPHA:731
HP:0005932	Abnormal renal corticomedullary differentiation	10229	COQ7	OMIM:616733
HP:0005932	Abnormal renal corticomedullary differentiation	11274	USP18	OMIM:617397
HP:0005934	Imperfect vocal cord adduction	9782	MATR3	ORPHA:600
HP:0008749	Laryngeal hypoplasia	3845	KRAS	ORPHA:3339
HP:0008749	Laryngeal hypoplasia	22858	CILK1	OMIM:612651
HP:0008749	Laryngeal hypoplasia	27152	INTU	OMIM:617925
HP:0008749	Laryngeal hypoplasia	5396	PRRX1	OMIM:202650
HP:0008749	Laryngeal hypoplasia	10262	SF3B4	OMIM:154400
HP:0008749	Laryngeal hypoplasia	219844	HYLS1	OMIM:236680
HP:0005938	Abnormal respiratory motile cilium morphology	55172	DNAAF2	OMIM:612518
HP:0005938	Abnormal respiratory motile cilium morphology	388389	CCDC103	OMIM:614679
HP:0005938	Abnormal respiratory motile cilium morphology	6674	SPAG1	OMIM:615505
HP:0005938	Abnormal respiratory motile cilium morphology	27019	DNAI1	OMIM:244400
HP:0005938	Abnormal respiratory motile cilium morphology	56683	CFAP298	OMIM:615500
HP:0005938	Abnormal respiratory motile cilium morphology	115948	ODAD3	OMIM:616037
HP:0005938	Abnormal respiratory motile cilium morphology	64446	DNAI2	OMIM:612444
HP:0005938	Abnormal respiratory motile cilium morphology	83544	DNAL1	OMIM:614017
HP:0005938	Abnormal respiratory motile cilium morphology	1770	DNAH9	OMIM:618300
HP:0005938	Abnormal respiratory motile cilium morphology	93233	ODAD1	OMIM:615067
HP:0005938	Abnormal respiratory motile cilium morphology	54919	DNAAF5	OMIM:614874
HP:0005938	Abnormal respiratory motile cilium morphology	123872	DNAAF1	OMIM:613193
HP:0005938	Abnormal respiratory motile cilium morphology	339829	CCDC39	OMIM:613807
HP:0005938	Abnormal respiratory motile cilium morphology	8701	DNAH11	OMIM:611884
HP:0005938	Abnormal respiratory motile cilium morphology	84071	ARMC2	OMIM:618433
HP:0005938	Abnormal respiratory motile cilium morphology	55036	CCDC40	OMIM:613808
HP:0005938	Abnormal respiratory motile cilium morphology	51364	ZMYND10	OMIM:615444
HP:0005938	Abnormal respiratory motile cilium morphology	85016	CFAP300	OMIM:618063
HP:0005938	Abnormal respiratory motile cilium morphology	54970	TTC12	OMIM:618801
HP:0005938	Abnormal respiratory motile cilium morphology	352909	DNAAF3	OMIM:606763
HP:0005938	Abnormal respiratory motile cilium morphology	23639	DNAAF11	OMIM:614935
HP:0005938	Abnormal respiratory motile cilium morphology	221421	RSPH9	OMIM:612650
HP:0005938	Abnormal respiratory motile cilium morphology	345895	RSPH4A	OMIM:612649
HP:0005938	Abnormal respiratory motile cilium morphology	374407	DNAJB13	OMIM:617091
HP:0005938	Abnormal respiratory motile cilium morphology	8382	NME5	OMIM:620032
HP:0005938	Abnormal respiratory motile cilium morphology	83861	RSPH3	OMIM:616481
HP:0005938	Abnormal respiratory motile cilium morphology	51314	NME8	OMIM:610852
HP:0500142	Hypolysinemia	9056	SLC7A7	OMIM:222700
HP:0500147	Hypoglutaminemia	2752	GLUL	OMIM:610015
HP:0500148	Abnormal circulating glutamate concentration	4190	MDH1	OMIM:618959
HP:0500148	Abnormal circulating glutamate concentration	498	ATP5F1A	OMIM:620358
HP:0500148	Abnormal circulating glutamate concentration	162417	NAGS	OMIM:237310
HP:0500149	Hyperglutamatemia	4190	MDH1	OMIM:618959
HP:0500149	Hyperglutamatemia	498	ATP5F1A	OMIM:620358
HP:0500149	Hyperglutamatemia	162417	NAGS	OMIM:237310
HP:0005942	Desquamative interstitial pneumonitis	6439	SFTPB	OMIM:265120
HP:0005942	Desquamative interstitial pneumonitis	6774	STAT3	OMIM:615952
HP:0005942	Desquamative interstitial pneumonitis	21	ABCA3	OMIM:610921
HP:0005942	Desquamative interstitial pneumonitis	6440	SFTPC	OMIM:610913
HP:0005943	Respiratory arrest	27429	HTRA2	OMIM:617248
HP:0005943	Respiratory arrest	60482	SLC5A7	ORPHA:98914
HP:0005943	Respiratory arrest	4649	MYO9A	ORPHA:98914
HP:0005943	Respiratory arrest	1305	COL13A1	ORPHA:98914
HP:0005943	Respiratory arrest	1103	CHAT	ORPHA:98914
HP:0005943	Respiratory arrest	6576	SLC25A1	ORPHA:98914
HP:0005943	Respiratory arrest	6843	VAMP1	ORPHA:98914
HP:0005943	Respiratory arrest	375790	AGRN	ORPHA:98914
HP:0005943	Respiratory arrest	127833	SYT2	ORPHA:98914
HP:0005943	Respiratory arrest	6572	SLC18A3	ORPHA:98914
HP:0005943	Respiratory arrest	6616	SNAP25	ORPHA:98914
HP:0005943	Respiratory arrest	123263	MTFMT	OMIM:614947
HP:0005943	Respiratory arrest	9152	SLC6A5	OMIM:614618
HP:0005943	Respiratory arrest	37	ACADVL	OMIM:201475
HP:0005943	Respiratory arrest	1639	DCTN1	OMIM:168605
HP:0005943	Respiratory arrest	3899	AFF3	OMIM:619297
HP:0005943	Respiratory arrest	1376	CPT2	OMIM:600649
HP:0005943	Respiratory arrest	3815	KIT	ORPHA:280785
HP:0005943	Respiratory arrest	7259	TSPYL1	OMIM:608800
HP:0005943	Respiratory arrest	4633	MYL2	OMIM:619424
HP:0005943	Respiratory arrest	2879	GPX4	ORPHA:93317
HP:0005943	Respiratory arrest	23233	EXOC6B	ORPHA:93359
HP:0005943	Respiratory arrest	126792	B3GALT6	ORPHA:93359
HP:0005943	Respiratory arrest	788	SLC25A20	OMIM:212138
HP:0005943	Respiratory arrest	439	GET3	OMIM:620203
HP:0005943	Respiratory arrest	57211	ADGRG6	OMIM:616503
HP:0005943	Respiratory arrest	79770	TXNDC15	OMIM:619879
HP:0005943	Respiratory arrest	1644	DDC	OMIM:608643
HP:0005943	Respiratory arrest	81031	SLC2A10	ORPHA:3342
HP:0005943	Respiratory arrest	1280	COL2A1	ORPHA:93296
HP:0005943	Respiratory arrest	3920	LAMP2	ORPHA:34587
HP:0005946	Ventilator dependence with inability to wean	7084	TK2	ORPHA:254875
HP:0005946	Ventilator dependence with inability to wean	4556	MT-TE	ORPHA:254864
HP:0005946	Ventilator dependence with inability to wean	55687	TRMU	ORPHA:254864
HP:0005946	Ventilator dependence with inability to wean	210	ALAD	ORPHA:100924
HP:0005946	Ventilator dependence with inability to wean	3508	IGHMBP2	OMIM:604320
HP:0005947	Decreased sensitivity to hypoxemia	8518	ELP1	OMIM:223900
HP:0005948	Multiple pulmonary cysts	8565	YARS1	OMIM:619418
HP:0005948	Multiple pulmonary cysts	201163	FLCN	OMIM:135150
HP:0005948	Multiple pulmonary cysts	6720	SREBF1	OMIM:158310
HP:0005948	Multiple pulmonary cysts	5297	PI4KA	ORPHA:436252
HP:0005948	Multiple pulmonary cysts	57217	TTC7A	ORPHA:436252
HP:0005948	Multiple pulmonary cysts	57217	TTC7A	OMIM:243150
HP:0005948	Multiple pulmonary cysts	54361	WNT4	OMIM:611812
HP:0005948	Multiple pulmonary cysts	6440	SFTPC	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	729238	SFTPA2	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	79991	STN1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	653509	SFTPA1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	21	ABCA3	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	21	ABCA3	OMIM:610921
HP:0005948	Multiple pulmonary cysts	1832	DSP	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	727897	MUC5B	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	10144	FAM13A	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	23250	ATP11A	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	91039	DPP9	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	51750	RTEL1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	7012	TERC	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	5073	PARN	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	5073	PARN	OMIM:616371
HP:0005948	Multiple pulmonary cysts	7015	TERT	ORPHA:2032
HP:0005949	Apneic episodes in infancy	2258	FGF13	OMIM:301058
HP:0005949	Apneic episodes in infancy	4728	NDUFS8	OMIM:618222
HP:0005949	Apneic episodes in infancy	57545	CC2D2A	OMIM:619111
HP:0005949	Apneic episodes in infancy	112939	NACC1	ORPHA:500545
HP:0005949	Apneic episodes in infancy	6329	SCN4A	OMIM:608390
HP:0005949	Apneic episodes in infancy	9200	HACD1	OMIM:619967
HP:0005949	Apneic episodes in infancy	36	ACADSB	OMIM:610006
HP:0005949	Apneic episodes in infancy	8398	PLA2G6	ORPHA:35069
HP:0005949	Apneic episodes in infancy	6331	SCN5A	OMIM:272120
HP:0005949	Apneic episodes in infancy	2203	FBP1	ORPHA:348
HP:0500151	Hypercystinemia	10157	AASS	ORPHA:3124
HP:0500152	Hypocystinemia	4780	NFE2L2	OMIM:617744
HP:0500152	Hypocystinemia	10243	GPHN	OMIM:615501
HP:0500153	Hyperargininemia	10165	SLC25A13	OMIM:605814
HP:0500153	Hyperargininemia	10165	SLC25A13	OMIM:603471
HP:0500153	Hyperargininemia	383	ARG1	OMIM:207800
HP:0031800	Elevated circulating apolipoprotein A-II concentration	19	ABCA1	OMIM:205400
HP:0031800	Elevated circulating apolipoprotein A-II concentration	4023	LPL	OMIM:144250
HP:0005950	Laryngeal web	139285	AMER1	OMIM:300373
HP:0005950	Laryngeal web	4519	MT-CYB	ORPHA:137675
HP:0005950	Laryngeal web	23498	HAAO	OMIM:617660
HP:0005950	Laryngeal web	80144	FRAS1	OMIM:219000
HP:0005951	Progressive inspiratory stridor	113278	SLC52A3	OMIM:211500
HP:0005954	Pulmonary capillary hemangiomatosis	440275	EIF2AK4	OMIM:234810
HP:0005954	Pulmonary capillary hemangiomatosis	440275	EIF2AK4	ORPHA:199241
HP:0005954	Pulmonary capillary hemangiomatosis	595	CCND1	OMIM:193300
HP:0005954	Pulmonary capillary hemangiomatosis	7428	VHL	OMIM:193300
HP:0005959	Impaired gluconeogenesis	5105	PCK1	OMIM:261680
HP:0005959	Impaired gluconeogenesis	6584	SLC22A5	OMIM:212140
HP:0005959	Impaired gluconeogenesis	5106	PCK2	OMIM:261650
HP:0005957	Breathing dysregulation	54806	AHI1	OMIM:608629
HP:0005957	Breathing dysregulation	23322	RPGRIP1L	OMIM:611560
HP:0005957	Breathing dysregulation	80184	CEP290	OMIM:610188
HP:0005957	Breathing dysregulation	51259	TMEM216	OMIM:608091
HP:0005957	Breathing dysregulation	56623	INPP5E	OMIM:213300
HP:0005957	Breathing dysregulation	8518	ELP1	OMIM:223900
HP:0005957	Breathing dysregulation	7092	TLL1	ORPHA:99103
HP:0005957	Breathing dysregulation	57057	TBX20	ORPHA:99103
HP:0005957	Breathing dysregulation	4624	MYH6	ORPHA:99103
HP:0005957	Breathing dysregulation	1482	NKX2-5	ORPHA:99103
HP:0005957	Breathing dysregulation	70	ACTC1	ORPHA:99103
HP:0005957	Breathing dysregulation	10370	CITED2	ORPHA:99103
HP:0005957	Breathing dysregulation	2626	GATA4	ORPHA:99103
HP:0005957	Breathing dysregulation	2627	GATA6	ORPHA:99103
HP:0005957	Breathing dysregulation	91147	TMEM67	OMIM:610688
HP:0005957	Breathing dysregulation	8942	KYNU	ORPHA:79155
HP:0005957	Breathing dysregulation	5979	RET	ORPHA:99803
HP:0005957	Breathing dysregulation	429	ASCL1	ORPHA:99803
HP:0005957	Breathing dysregulation	8929	PHOX2B	ORPHA:99803
HP:0005957	Breathing dysregulation	4726	NDUFS6	OMIM:618232
HP:0500164	Abnormal blood carbon dioxide level	779	CACNA1S	OMIM:601887
HP:0500164	Abnormal blood carbon dioxide level	779	CACNA1S	ORPHA:423
HP:0500164	Abnormal blood carbon dioxide level	57190	SELENON	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	58	ACTA1	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	4633	MYL2	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	3679	ITGA7	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	7169	TPM2	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	9200	HACD1	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	7170	TPM3	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	51776	MAP3K20	ORPHA:2020
HP:0500164	Abnormal blood carbon dioxide level	4728	NDUFS8	OMIM:618222
HP:0500164	Abnormal blood carbon dioxide level	29967	LRP12	OMIM:164310
HP:0500164	Abnormal blood carbon dioxide level	6261	RYR1	ORPHA:423
HP:0500164	Abnormal blood carbon dioxide level	8929	PHOX2B	OMIM:209880
HP:0500163	Hypoornithinemia	10157	AASS	ORPHA:2203
HP:0500163	Hypoornithinemia	763	CA5A	OMIM:615751
HP:0500163	Hypoornithinemia	5832	ALDH18A1	OMIM:219150
HP:0500166	Abnormal circulating gastrin concentration	4221	MEN1	ORPHA:652
HP:0500166	Abnormal circulating gastrin concentration	1027	CDKN1B	ORPHA:652
HP:0500166	Abnormal circulating gastrin concentration	1026	CDKN1A	ORPHA:652
HP:0500166	Abnormal circulating gastrin concentration	1030	CDKN2B	ORPHA:652
HP:0500166	Abnormal circulating gastrin concentration	1031	CDKN2C	ORPHA:652
HP:0500166	Abnormal circulating gastrin concentration	57192	MCOLN1	OMIM:252650
HP:0500165	Abnormal blood oxygen level	3043	HBB	ORPHA:232
HP:0500165	Abnormal blood oxygen level	3043	HBB	OMIM:603903
HP:0500165	Abnormal blood oxygen level	8929	PHOX2B	OMIM:209880
HP:0500165	Abnormal blood oxygen level	3123	HLA-DRB1	ORPHA:747
HP:0500165	Abnormal blood oxygen level	3123	HLA-DRB1	OMIM:181000
HP:0500165	Abnormal blood oxygen level	2200	FBN1	ORPHA:284979
HP:0500165	Abnormal blood oxygen level	959	CD40LG	OMIM:308230
HP:0500165	Abnormal blood oxygen level	10559	SLC35A1	ORPHA:238459
HP:0500165	Abnormal blood oxygen level	4141	MARS1	OMIM:615486
HP:0500165	Abnormal blood oxygen level	6440	SFTPC	OMIM:610913
HP:0500165	Abnormal blood oxygen level	6440	SFTPC	ORPHA:70587
HP:0500165	Abnormal blood oxygen level	2022	ENG	OMIM:187300
HP:0500165	Abnormal blood oxygen level	23019	CNOT1	ORPHA:556955
HP:0500165	Abnormal blood oxygen level	1439	CSF2RB	ORPHA:264675
HP:0500165	Abnormal blood oxygen level	1438	CSF2RA	ORPHA:264675
HP:0500165	Abnormal blood oxygen level	56244	BTNL2	OMIM:612387
HP:0500165	Abnormal blood oxygen level	21	ABCA3	OMIM:610921
HP:0500165	Abnormal blood oxygen level	21	ABCA3	ORPHA:70587
HP:0500165	Abnormal blood oxygen level	2261	FGFR3	ORPHA:15
HP:0500165	Abnormal blood oxygen level	440275	EIF2AK4	ORPHA:199241
HP:0500165	Abnormal blood oxygen level	57190	SELENON	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	58	ACTA1	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	4633	MYL2	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	3679	ITGA7	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	7169	TPM2	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	9200	HACD1	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	7170	TPM3	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	51776	MAP3K20	ORPHA:2020
HP:0500165	Abnormal blood oxygen level	51651	PTRH2	ORPHA:456312
HP:0500165	Abnormal blood oxygen level	23414	ZFPM2	ORPHA:2140
HP:0500165	Abnormal blood oxygen level	9361	LONP1	ORPHA:2140
HP:0500165	Abnormal blood oxygen level	2627	GATA6	ORPHA:2140
HP:0500165	Abnormal blood oxygen level	6439	SFTPB	ORPHA:70587
HP:0500165	Abnormal blood oxygen level	6005	RHAG	ORPHA:71275
HP:0500165	Abnormal blood oxygen level	6006	RHCE	ORPHA:71275
HP:0500165	Abnormal blood oxygen level	6007	RHD	ORPHA:71275
HP:0500165	Abnormal blood oxygen level	10568	SLC34A2	ORPHA:60025
HP:0500165	Abnormal blood oxygen level	7080	NKX2-1	OMIM:610978
HP:0500167	Hypergastrinemia	4221	MEN1	ORPHA:652
HP:0500167	Hypergastrinemia	1027	CDKN1B	ORPHA:652
HP:0500167	Hypergastrinemia	1026	CDKN1A	ORPHA:652
HP:0500167	Hypergastrinemia	1030	CDKN2B	ORPHA:652
HP:0500167	Hypergastrinemia	1031	CDKN2C	ORPHA:652
HP:0500167	Hypergastrinemia	57192	MCOLN1	OMIM:252650
HP:0031801	Vocal cord dysfunction	9361	LONP1	OMIM:600373
HP:0031801	Vocal cord dysfunction	54332	GDAP1	OMIM:607706
HP:0031801	Vocal cord dysfunction	54332	GDAP1	ORPHA:99948
HP:0031801	Vocal cord dysfunction	54332	GDAP1	ORPHA:101097
HP:0031801	Vocal cord dysfunction	182	JAG1	OMIM:619574
HP:0031801	Vocal cord dysfunction	57716	PRX	OMIM:614895
HP:0031801	Vocal cord dysfunction	59341	TRPV4	OMIM:606071
HP:0031801	Vocal cord dysfunction	79628	SH3TC2	ORPHA:99949
HP:0031801	Vocal cord dysfunction	9782	MATR3	ORPHA:600
HP:0031801	Vocal cord dysfunction	10755	GIPC1	ORPHA:98897
HP:0031801	Vocal cord dysfunction	100996717	NOTCH2NLC	ORPHA:98897
HP:0031801	Vocal cord dysfunction	5376	PMP22	OMIM:162500
HP:0031801	Vocal cord dysfunction	5376	PMP22	ORPHA:640
HP:0031801	Vocal cord dysfunction	7125	TNNC2	OMIM:620161
HP:0031801	Vocal cord dysfunction	60482	SLC5A7	OMIM:158580
HP:0031801	Vocal cord dysfunction	79784	MYH14	ORPHA:397744
HP:0031801	Vocal cord dysfunction	23321	TRIM2	OMIM:615490
HP:0031801	Vocal cord dysfunction	112	ADCY6	OMIM:616287
HP:0031801	Vocal cord dysfunction	22943	DKK1	ORPHA:268882
HP:0031801	Vocal cord dysfunction	816	CAMK2B	OMIM:617799
HP:0031801	Vocal cord dysfunction	7428	VHL	ORPHA:29072
HP:0031801	Vocal cord dysfunction	7428	VHL	ORPHA:276621
HP:0031801	Vocal cord dysfunction	1743	DLST	ORPHA:29072
HP:0031801	Vocal cord dysfunction	4191	MDH2	ORPHA:29072
HP:0031801	Vocal cord dysfunction	5979	RET	ORPHA:29072
HP:0031801	Vocal cord dysfunction	5979	RET	ORPHA:276621
HP:0031801	Vocal cord dysfunction	6389	SDHA	ORPHA:29072
HP:0031801	Vocal cord dysfunction	23095	KIF1B	ORPHA:29072
HP:0031801	Vocal cord dysfunction	2271	FH	ORPHA:29072
HP:0031801	Vocal cord dysfunction	8402	SLC25A11	ORPHA:29072
HP:0031801	Vocal cord dysfunction	54949	SDHAF2	ORPHA:29072
HP:0031801	Vocal cord dysfunction	54949	SDHAF2	OMIM:601650
HP:0031801	Vocal cord dysfunction	55654	TMEM127	ORPHA:29072
HP:0031801	Vocal cord dysfunction	4763	NF1	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6391	SDHC	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6391	SDHC	OMIM:605373
HP:0031801	Vocal cord dysfunction	6392	SDHD	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6392	SDHD	ORPHA:276621
HP:0031801	Vocal cord dysfunction	6392	SDHD	OMIM:168000
HP:0031801	Vocal cord dysfunction	6390	SDHB	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6390	SDHB	ORPHA:276621
HP:0031801	Vocal cord dysfunction	4149	MAX	ORPHA:29072
HP:0031801	Vocal cord dysfunction	1639	DCTN1	OMIM:607641
HP:0031801	Vocal cord dysfunction	1788	DNMT3A	ORPHA:276621
HP:0031801	Vocal cord dysfunction	2034	EPAS1	ORPHA:276621
HP:0031801	Vocal cord dysfunction	81846	SBF2	ORPHA:99956
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276244
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276241
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276238
HP:0031801	Vocal cord dysfunction	2273	FHL1	ORPHA:98863
HP:0031801	Vocal cord dysfunction	2010	EMD	ORPHA:98863
HP:0031801	Vocal cord dysfunction	51112	TRAPPC12	ORPHA:500144
HP:0031801	Vocal cord dysfunction	374879	ZNF699	OMIM:619488
HP:0031801	Vocal cord dysfunction	4613	MYCN	OMIM:164280
HP:0031801	Vocal cord dysfunction	113278	SLC52A3	OMIM:211530
HP:0031801	Vocal cord dysfunction	9927	MFN2	ORPHA:99947
HP:0031801	Vocal cord dysfunction	51085	MLXIPL	OMIM:194050
HP:0031801	Vocal cord dysfunction	2006	ELN	OMIM:194050
HP:0031801	Vocal cord dysfunction	26040	SETBP1	ORPHA:798
HP:0031801	Vocal cord dysfunction	79188	TMEM43	ORPHA:98853
HP:0031801	Vocal cord dysfunction	23345	SYNE1	ORPHA:98853
HP:0031801	Vocal cord dysfunction	23224	SYNE2	ORPHA:98853
HP:0031801	Vocal cord dysfunction	4000	LMNA	ORPHA:98853
HP:0031801	Vocal cord dysfunction	5422	POLA1	OMIM:301030
HP:0031801	Vocal cord dysfunction	23498	HAAO	OMIM:617660
HP:0031801	Vocal cord dysfunction	667	DST	OMIM:614653
HP:0031803	Fundus hemorrhage	2639	GCDH	ORPHA:25
HP:0031803	Fundus hemorrhage	3458	IFNG	ORPHA:88
HP:0031803	Fundus hemorrhage	5551	PRF1	ORPHA:88
HP:0031803	Fundus hemorrhage	7012	TERC	ORPHA:88
HP:0031803	Fundus hemorrhage	51119	SBDS	ORPHA:88
HP:0031803	Fundus hemorrhage	7015	TERT	ORPHA:88
HP:0031803	Fundus hemorrhage	11277	TREX1	OMIM:192315
HP:0031803	Fundus hemorrhage	5167	ENPP1	ORPHA:51608
HP:0031803	Fundus hemorrhage	5167	ENPP1	ORPHA:758
HP:0031803	Fundus hemorrhage	368	ABCC6	ORPHA:51608
HP:0031803	Fundus hemorrhage	368	ABCC6	OMIM:177850
HP:0031803	Fundus hemorrhage	368	ABCC6	OMIM:264800
HP:0031803	Fundus hemorrhage	368	ABCC6	ORPHA:758
HP:0031803	Fundus hemorrhage	1161	ERCC8	ORPHA:90324
HP:0031803	Fundus hemorrhage	2074	ERCC6	ORPHA:90324
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:611773
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:175780
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:180000
HP:0031803	Fundus hemorrhage	3913	LAMB2	OMIM:609049
HP:0031803	Fundus hemorrhage	8517	IKBKG	ORPHA:464
HP:0031803	Fundus hemorrhage	8517	IKBKG	OMIM:308300
HP:0031803	Fundus hemorrhage	4615	MYD88	ORPHA:33226
HP:0031803	Fundus hemorrhage	64131	XYLT1	OMIM:264800
HP:0031803	Fundus hemorrhage	64132	XYLT2	OMIM:264800
HP:0031803	Fundus hemorrhage	1785	DNM2	OMIM:615368
HP:0031803	Fundus hemorrhage	667	DST	OMIM:614653
HP:0031803	Fundus hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0031803	Fundus hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0031803	Fundus hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0031803	Fundus hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0031803	Fundus hemorrhage	3075	CFH	ORPHA:75376
HP:0031803	Fundus hemorrhage	3426	CFI	ORPHA:75376
HP:0031803	Fundus hemorrhage	348	APOE	OMIM:603075
HP:0031803	Fundus hemorrhage	83872	HMCN1	OMIM:603075
HP:0031803	Fundus hemorrhage	3078	CFHR1	OMIM:603075
HP:0031803	Fundus hemorrhage	10878	CFHR3	OMIM:603075
HP:0003128	Lactic acidosis	4702	NDUFA8	OMIM:619272
HP:0003128	Lactic acidosis	54539	NDUFB11	ORPHA:2609
HP:0003128	Lactic acidosis	25915	NDUFAF3	ORPHA:2609
HP:0003128	Lactic acidosis	25915	NDUFAF3	OMIM:618240
HP:0003128	Lactic acidosis	51103	NDUFAF1	ORPHA:2609
HP:0003128	Lactic acidosis	51103	NDUFAF1	OMIM:618234
HP:0003128	Lactic acidosis	91942	NDUFAF2	ORPHA:2609
HP:0003128	Lactic acidosis	51300	TIMMDC1	ORPHA:2609
HP:0003128	Lactic acidosis	4716	NDUFB10	ORPHA:2609
HP:0003128	Lactic acidosis	4716	NDUFB10	OMIM:619003
HP:0003128	Lactic acidosis	4723	NDUFV1	ORPHA:2609
HP:0003128	Lactic acidosis	55572	FOXRED1	ORPHA:2609
HP:0003128	Lactic acidosis	55572	FOXRED1	OMIM:618241
HP:0003128	Lactic acidosis	284184	NDUFAF8	ORPHA:2609
HP:0003128	Lactic acidosis	284184	NDUFAF8	OMIM:618776
HP:0003128	Lactic acidosis	55863	TMEM126B	ORPHA:2609
HP:0003128	Lactic acidosis	55863	TMEM126B	OMIM:618250
HP:0003128	Lactic acidosis	4535	MT-ND1	ORPHA:2609
HP:0003128	Lactic acidosis	4535	MT-ND1	OMIM:540000
HP:0003128	Lactic acidosis	4535	MT-ND1	ORPHA:550
HP:0003128	Lactic acidosis	4537	MT-ND3	ORPHA:2609
HP:0003128	Lactic acidosis	4729	NDUFV2	ORPHA:2609
HP:0003128	Lactic acidosis	4729	NDUFV2	OMIM:618229
HP:0003128	Lactic acidosis	4694	NDUFA1	ORPHA:2609
HP:0003128	Lactic acidosis	4726	NDUFS6	ORPHA:2609
HP:0003128	Lactic acidosis	4726	NDUFS6	OMIM:618232
HP:0003128	Lactic acidosis	4728	NDUFS8	ORPHA:2609
HP:0003128	Lactic acidosis	4722	NDUFS3	ORPHA:2609
HP:0003128	Lactic acidosis	4722	NDUFS3	OMIM:618230
HP:0003128	Lactic acidosis	79133	NDUFAF5	ORPHA:2609
HP:0003128	Lactic acidosis	79133	NDUFAF5	OMIM:618238
HP:0003128	Lactic acidosis	126328	NDUFA11	ORPHA:2609
HP:0003128	Lactic acidosis	126328	NDUFA11	OMIM:618236
HP:0003128	Lactic acidosis	4709	NDUFB3	ORPHA:2609
HP:0003128	Lactic acidosis	4709	NDUFB3	OMIM:618246
HP:0003128	Lactic acidosis	80224	NUBPL	ORPHA:2609
HP:0003128	Lactic acidosis	29078	NDUFAF4	ORPHA:2609
HP:0003128	Lactic acidosis	374291	NDUFS7	ORPHA:2609
HP:0003128	Lactic acidosis	4700	NDUFA6	ORPHA:2609
HP:0003128	Lactic acidosis	4700	NDUFA6	OMIM:618253
HP:0003128	Lactic acidosis	4536	MT-ND2	ORPHA:2609
HP:0003128	Lactic acidosis	4719	NDUFS1	ORPHA:2609
HP:0003128	Lactic acidosis	4719	NDUFS1	OMIM:618226
HP:0003128	Lactic acidosis	4715	NDUFB9	ORPHA:2609
HP:0003128	Lactic acidosis	26235	FBXL4	OMIM:615471
HP:0003128	Lactic acidosis	229	ALDOB	OMIM:229600
HP:0003128	Lactic acidosis	57128	LYRM4	OMIM:615595
HP:0003128	Lactic acidosis	4574	MT-TS1	OMIM:220110
HP:0003128	Lactic acidosis	4574	MT-TS1	OMIM:540000
HP:0003128	Lactic acidosis	4574	MT-TS1	ORPHA:550
HP:0003128	Lactic acidosis	4570	MT-TN	OMIM:220110
HP:0003128	Lactic acidosis	6834	SURF1	OMIM:220110
HP:0003128	Lactic acidosis	10059	DNM1L	OMIM:614388
HP:0003128	Lactic acidosis	1355	COX15	OMIM:615119
HP:0003128	Lactic acidosis	25821	MTO1	OMIM:614702
HP:0003128	Lactic acidosis	23417	MLYCD	OMIM:248360
HP:0003128	Lactic acidosis	84334	COA8	ORPHA:436271
HP:0003128	Lactic acidosis	10667	FARS2	OMIM:614946
HP:0003128	Lactic acidosis	2542	SLC37A4	OMIM:232220
HP:0003128	Lactic acidosis	2542	SLC37A4	OMIM:232240
HP:0003128	Lactic acidosis	2542	SLC37A4	ORPHA:79259
HP:0003128	Lactic acidosis	57176	VARS2	OMIM:615917
HP:0003128	Lactic acidosis	65993	MRPS34	OMIM:617664
HP:0003128	Lactic acidosis	4141	MARS1	OMIM:615486
HP:0003128	Lactic acidosis	56997	COQ8A	ORPHA:139485
HP:0003128	Lactic acidosis	56997	COQ8A	OMIM:612016
HP:0003128	Lactic acidosis	6392	SDHD	OMIM:619167
HP:0003128	Lactic acidosis	1352	COX10	OMIM:619046
HP:0003128	Lactic acidosis	387787	LIPT2	OMIM:617668
HP:0003128	Lactic acidosis	3141	HLCS	OMIM:253270
HP:0003128	Lactic acidosis	23474	ETHE1	ORPHA:51188
HP:0003128	Lactic acidosis	23474	ETHE1	OMIM:602473
HP:0003128	Lactic acidosis	5428	POLG	ORPHA:298
HP:0003128	Lactic acidosis	5428	POLG	OMIM:603041
HP:0003128	Lactic acidosis	1890	TYMP	ORPHA:298
HP:0003128	Lactic acidosis	1890	TYMP	OMIM:603041
HP:0003128	Lactic acidosis	3980	LIG3	ORPHA:298
HP:0003128	Lactic acidosis	1340	COX6B1	OMIM:619051
HP:0003128	Lactic acidosis	4512	MT-CO1	OMIM:540000
HP:0003128	Lactic acidosis	4512	MT-CO1	ORPHA:550
HP:0003128	Lactic acidosis	4513	MT-CO2	OMIM:540000
HP:0003128	Lactic acidosis	4513	MT-CO2	ORPHA:550
HP:0003128	Lactic acidosis	4514	MT-CO3	OMIM:540000
HP:0003128	Lactic acidosis	4514	MT-CO3	ORPHA:550
HP:0003128	Lactic acidosis	4519	MT-CYB	OMIM:540000
HP:0003128	Lactic acidosis	4519	MT-CYB	ORPHA:137675
HP:0003128	Lactic acidosis	4511	MT-TC	OMIM:540000
HP:0003128	Lactic acidosis	4575	MT-TS2	OMIM:540000
HP:0003128	Lactic acidosis	4575	MT-TS2	ORPHA:550
HP:0003128	Lactic acidosis	4558	MT-TF	OMIM:540000
HP:0003128	Lactic acidosis	4558	MT-TF	ORPHA:550
HP:0003128	Lactic acidosis	4541	MT-ND6	OMIM:540000
HP:0003128	Lactic acidosis	4541	MT-ND6	ORPHA:550
HP:0003128	Lactic acidosis	4567	MT-TL1	OMIM:540000
HP:0003128	Lactic acidosis	4567	MT-TL1	ORPHA:550
HP:0003128	Lactic acidosis	4540	MT-ND5	OMIM:540000
HP:0003128	Lactic acidosis	4540	MT-ND5	ORPHA:550
HP:0003128	Lactic acidosis	4566	MT-TK	OMIM:540000
HP:0003128	Lactic acidosis	4572	MT-TQ	OMIM:540000
HP:0003128	Lactic acidosis	4572	MT-TQ	ORPHA:550
HP:0003128	Lactic acidosis	4577	MT-TV	OMIM:540000
HP:0003128	Lactic acidosis	4578	MT-TW	OMIM:540000
HP:0003128	Lactic acidosis	4578	MT-TW	ORPHA:550
HP:0003128	Lactic acidosis	1738	DLD	ORPHA:2394
HP:0003128	Lactic acidosis	1738	DLD	OMIM:246900
HP:0003128	Lactic acidosis	1351	COX8A	OMIM:619059
HP:0003128	Lactic acidosis	5105	PCK1	OMIM:261680
HP:0003128	Lactic acidosis	100131801	PET100	OMIM:619055
HP:0003128	Lactic acidosis	7084	TK2	OMIM:609560
HP:0003128	Lactic acidosis	2538	G6PC1	OMIM:232200
HP:0003128	Lactic acidosis	501	ALDH7A1	ORPHA:3006
HP:0003128	Lactic acidosis	11212	PLPBP	ORPHA:3006
HP:0003128	Lactic acidosis	1716	DGUOK	OMIM:251880
HP:0003128	Lactic acidosis	5095	PCCA	OMIM:606054
HP:0003128	Lactic acidosis	5096	PCCB	OMIM:606054
HP:0003128	Lactic acidosis	8802	SUCLG1	OMIM:245400
HP:0003128	Lactic acidosis	8802	SUCLG1	ORPHA:17
HP:0003128	Lactic acidosis	54968	TMEM70	OMIM:614052
HP:0003128	Lactic acidosis	23203	PMPCA	ORPHA:1170
HP:0003128	Lactic acidosis	4697	NDUFA4	OMIM:619065
HP:0003128	Lactic acidosis	514	ATP5F1E	OMIM:614053
HP:0003128	Lactic acidosis	388962	BOLA3	OMIM:614299
HP:0003128	Lactic acidosis	10352	WARS2	ORPHA:572798
HP:0003128	Lactic acidosis	10352	WARS2	OMIM:617710
HP:0003128	Lactic acidosis	55065	SLC52A1	OMIM:615026
HP:0003128	Lactic acidosis	51021	MRPS16	OMIM:610498
HP:0003128	Lactic acidosis	284439	SLC25A42	OMIM:618416
HP:0003128	Lactic acidosis	84947	SERAC1	OMIM:614739
HP:0003128	Lactic acidosis	28976	ACAD9	ORPHA:99901
HP:0003128	Lactic acidosis	28976	ACAD9	OMIM:611126
HP:0003128	Lactic acidosis	5091	PC	OMIM:266150
HP:0003128	Lactic acidosis	1629	DBT	OMIM:248600
HP:0003128	Lactic acidosis	593	BCKDHA	OMIM:248600
HP:0003128	Lactic acidosis	594	BCKDHB	OMIM:248600
HP:0003128	Lactic acidosis	3028	HSD17B10	OMIM:300438
HP:0003128	Lactic acidosis	3028	HSD17B10	ORPHA:391457
HP:0003128	Lactic acidosis	3028	HSD17B10	ORPHA:391428
HP:0003128	Lactic acidosis	51660	MPC1	OMIM:614741
HP:0003128	Lactic acidosis	90624	LYRM7	OMIM:615838
HP:0003128	Lactic acidosis	1737	DLAT	OMIM:245348
HP:0003128	Lactic acidosis	8050	PDHX	OMIM:245349
HP:0003128	Lactic acidosis	8050	PDHX	ORPHA:255182
HP:0003128	Lactic acidosis	4285	MIPEP	OMIM:617228
HP:0003128	Lactic acidosis	10165	SLC25A13	ORPHA:247598
HP:0003128	Lactic acidosis	2271	FH	OMIM:606812
HP:0003128	Lactic acidosis	125988	MICOS13	OMIM:618329
HP:0003128	Lactic acidosis	80324	PUS1	ORPHA:2598
HP:0003128	Lactic acidosis	80324	PUS1	OMIM:600462
HP:0003128	Lactic acidosis	51067	YARS2	ORPHA:2598
HP:0003128	Lactic acidosis	51067	YARS2	OMIM:613561
HP:0003128	Lactic acidosis	23479	ISCU	OMIM:255125
HP:0003128	Lactic acidosis	27247	NFU1	OMIM:605711
HP:0003128	Lactic acidosis	57505	AARS2	OMIM:614096
HP:0003128	Lactic acidosis	5256	PHKA2	ORPHA:264580
HP:0003128	Lactic acidosis	5256	PHKA2	OMIM:306000
HP:0003128	Lactic acidosis	5261	PHKG2	ORPHA:264580
HP:0003128	Lactic acidosis	5261	PHKG2	OMIM:613027
HP:0003128	Lactic acidosis	57017	COQ9	OMIM:614654
HP:0003128	Lactic acidosis	54704	PDP1	OMIM:608782
HP:0003128	Lactic acidosis	54704	PDP1	ORPHA:79246
HP:0003128	Lactic acidosis	84705	GTPBP3	ORPHA:444013
HP:0003128	Lactic acidosis	84705	GTPBP3	OMIM:616198
HP:0003128	Lactic acidosis	4538	MT-ND4	ORPHA:550
HP:0003128	Lactic acidosis	4564	MT-TH	ORPHA:550
HP:0003128	Lactic acidosis	763	CA5A	OMIM:615751
HP:0003128	Lactic acidosis	5250	SLC25A3	ORPHA:91130
HP:0003128	Lactic acidosis	5250	SLC25A3	OMIM:610773
HP:0003128	Lactic acidosis	2671	GFER	ORPHA:330054
HP:0003128	Lactic acidosis	6261	RYR1	ORPHA:466650
HP:0003128	Lactic acidosis	26007	TKFC	ORPHA:1369
HP:0003128	Lactic acidosis	26007	TKFC	OMIM:618805
HP:0003128	Lactic acidosis	56945	MRPS22	OMIM:611719
HP:0003128	Lactic acidosis	23395	LARS2	OMIM:617021
HP:0003128	Lactic acidosis	51601	LIPT1	OMIM:616299
HP:0003128	Lactic acidosis	54931	TRMT10C	OMIM:616974
HP:0003128	Lactic acidosis	137682	NDUFAF6	OMIM:618239
HP:0003128	Lactic acidosis	513	ATP5F1D	OMIM:618120
HP:0003128	Lactic acidosis	4705	NDUFA10	OMIM:618243
HP:0003128	Lactic acidosis	11274	USP18	OMIM:617397
HP:0003128	Lactic acidosis	388753	COA6	OMIM:616501
HP:0003128	Lactic acidosis	4358	MPV17	OMIM:256810
HP:0003128	Lactic acidosis	708	C1QBP	OMIM:617713
HP:0003128	Lactic acidosis	5257	PHKB	ORPHA:79240
HP:0003128	Lactic acidosis	128989	TANGO2	ORPHA:480864
HP:0003128	Lactic acidosis	128989	TANGO2	OMIM:616878
HP:0003128	Lactic acidosis	112812	FDX2	OMIM:251900
HP:0003128	Lactic acidosis	63931	MRPS14	OMIM:618378
HP:0003128	Lactic acidosis	58472	SQOR	OMIM:619221
HP:0003128	Lactic acidosis	27010	TPK1	OMIM:614458
HP:0003128	Lactic acidosis	9997	SCO2	OMIM:604377
HP:0003128	Lactic acidosis	51095	TRNT1	OMIM:616084
HP:0003128	Lactic acidosis	11019	LIAS	OMIM:614462
HP:0003128	Lactic acidosis	51520	LARS1	OMIM:615438
HP:0003128	Lactic acidosis	5162	PDHB	ORPHA:255138
HP:0003128	Lactic acidosis	5162	PDHB	OMIM:614111
HP:0003128	Lactic acidosis	128240	NAXE	OMIM:617186
HP:0003128	Lactic acidosis	60528	ELAC2	OMIM:615440
HP:0003128	Lactic acidosis	55278	QRSL1	OMIM:618835
HP:0003128	Lactic acidosis	5188	GATB	OMIM:618838
HP:0003128	Lactic acidosis	57570	TRMT5	OMIM:616539
HP:0003128	Lactic acidosis	498	ATP5F1A	OMIM:620358
HP:0003128	Lactic acidosis	3033	HADH	ORPHA:71212
HP:0003128	Lactic acidosis	7284	TUFM	OMIM:610678
HP:0003128	Lactic acidosis	3030	HADHA	OMIM:609015
HP:0003128	Lactic acidosis	283459	GATC	OMIM:618839
HP:0003128	Lactic acidosis	60386	SLC25A19	OMIM:607196
HP:0003128	Lactic acidosis	5495	PPM1B	ORPHA:163693
HP:0003128	Lactic acidosis	6519	SLC3A1	ORPHA:163693
HP:0003128	Lactic acidosis	9581	PREPL	ORPHA:163693
HP:0003128	Lactic acidosis	79823	CAMKMT	ORPHA:163693
HP:0003128	Lactic acidosis	51081	MRPS7	OMIM:617872
HP:0003128	Lactic acidosis	1537	CYC1	OMIM:615453
HP:0003128	Lactic acidosis	63899	NSUN3	OMIM:619012
HP:0003128	Lactic acidosis	200205	IBA57	OMIM:615330
HP:0003128	Lactic acidosis	119559	SFXN4	OMIM:615578
HP:0003128	Lactic acidosis	55005	RMND1	OMIM:614922
HP:0003128	Lactic acidosis	124454	EARS2	OMIM:614924
HP:0003128	Lactic acidosis	8803	SUCLA2	OMIM:612073
HP:0003128	Lactic acidosis	4713	NDUFB7	OMIM:620135
HP:0003128	Lactic acidosis	50640	PNPLA8	OMIM:251950
HP:0003128	Lactic acidosis	133686	NADK2	ORPHA:431361
HP:0003128	Lactic acidosis	7386	UQCRFS1	OMIM:618775
HP:0003128	Lactic acidosis	6389	SDHA	OMIM:252011
HP:0003128	Lactic acidosis	10128	LRPPRC	OMIM:220111
HP:0003128	Lactic acidosis	51241	COX16	OMIM:619355
HP:0003128	Lactic acidosis	4556	MT-TE	ORPHA:254864
HP:0003128	Lactic acidosis	55687	TRMU	ORPHA:254864
HP:0003128	Lactic acidosis	57107	PDSS2	ORPHA:255249
HP:0003128	Lactic acidosis	27235	COQ2	ORPHA:255249
HP:0003128	Lactic acidosis	4576	MT-TT	ORPHA:254857
HP:0003128	Lactic acidosis	115286	SLC25A26	OMIM:616794
HP:0003128	Lactic acidosis	790955	UQCC3	OMIM:616111
HP:0003128	Lactic acidosis	50484	RRM2B	OMIM:612075
HP:0003128	Lactic acidosis	4724	NDUFS4	OMIM:252010
HP:0003128	Lactic acidosis	4720	NDUFS2	OMIM:618228
HP:0003128	Lactic acidosis	291	SLC25A4	OMIM:615418
HP:0003128	Lactic acidosis	10102	TSFM	OMIM:610505
HP:0003128	Lactic acidosis	55750	AGK	OMIM:212350
HP:0003128	Lactic acidosis	84300	UQCC2	OMIM:615824
HP:0003128	Lactic acidosis	4967	OGDH	OMIM:203740
HP:0003128	Lactic acidosis	9361	LONP1	ORPHA:79243
HP:0003128	Lactic acidosis	6901	TAFAZZIN	OMIM:302060
HP:0003128	Lactic acidosis	5836	PYGL	ORPHA:369
HP:0003128	Lactic acidosis	2203	FBP1	ORPHA:348
HP:0003128	Lactic acidosis	617	BCS1L	OMIM:603358
HP:0003128	Lactic acidosis	5160	PDHA1	OMIM:312170
HP:0005961	Hypoargininemia	435	ASL	ORPHA:23
HP:0005961	Hypoargininemia	435	ASL	OMIM:207900
HP:0005961	Hypoargininemia	1373	CPS1	ORPHA:147
HP:0005961	Hypoargininemia	1373	CPS1	OMIM:237300
HP:0005961	Hypoargininemia	763	CA5A	OMIM:615751
HP:0005961	Hypoargininemia	55163	PNPO	ORPHA:79096
HP:0005961	Hypoargininemia	445	ASS1	OMIM:215700
HP:0005961	Hypoargininemia	498	ATP5F1A	OMIM:620358
HP:0005961	Hypoargininemia	5832	ALDH18A1	OMIM:219150
HP:0001954	Recurrent fever	3561	IL2RG	ORPHA:276
HP:0001954	Recurrent fever	8518	ELP1	OMIM:223900
HP:0001954	Recurrent fever	9663	LPIN2	OMIM:609628
HP:0001954	Recurrent fever	1589	CYP21A2	OMIM:201910
HP:0001954	Recurrent fever	970	CD70	OMIM:618261
HP:0001954	Recurrent fever	30011	SH3KBP1	OMIM:300310
HP:0001954	Recurrent fever	90268	OTULIN	OMIM:617099
HP:0001954	Recurrent fever	8367	H4C5	OMIM:619950
HP:0001954	Recurrent fever	1053	CEBPE	OMIM:260570
HP:0001954	Recurrent fever	3043	HBB	ORPHA:231214
HP:0001954	Recurrent fever	3043	HBB	ORPHA:231226
HP:0001954	Recurrent fever	3702	ITK	OMIM:613011
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:191900
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:607115
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:120100
HP:0001954	Recurrent fever	54914	FOCAD	OMIM:619991
HP:0001954	Recurrent fever	331	XIAP	OMIM:300635
HP:0001954	Recurrent fever	331	XIAP	OMIM:308240
HP:0001954	Recurrent fever	6711	SPTBN1	OMIM:619475
HP:0001954	Recurrent fever	85446	ZFHX2	OMIM:147430
HP:0001954	Recurrent fever	5190	PEX6	OMIM:614863
HP:0001954	Recurrent fever	4598	MVK	OMIM:260920
HP:0001954	Recurrent fever	4598	MVK	ORPHA:343
HP:0001954	Recurrent fever	100151683	RNU4ATAC	OMIM:210710
HP:0001954	Recurrent fever	5580	PRKCD	OMIM:615559
HP:0001954	Recurrent fever	2643	GCH1	OMIM:233910
HP:0001954	Recurrent fever	4803	NGF	OMIM:608654
HP:0001954	Recurrent fever	718	C3	OMIM:613779
HP:0001954	Recurrent fever	51284	TLR7	OMIM:301080
HP:0001954	Recurrent fever	3190	HNRNPK	ORPHA:453504
HP:0001954	Recurrent fever	3190	HNRNPK	ORPHA:352665
HP:0001954	Recurrent fever	5551	PRF1	OMIM:603553
HP:0001954	Recurrent fever	8676	STX11	OMIM:603552
HP:0001954	Recurrent fever	58484	NLRC4	OMIM:616050
HP:0001954	Recurrent fever	7317	UBA1	OMIM:301054
HP:0001954	Recurrent fever	57511	COG6	ORPHA:363523
HP:0001954	Recurrent fever	4210	MEFV	OMIM:249100
HP:0001954	Recurrent fever	4210	MEFV	OMIM:134610
HP:0001954	Recurrent fever	4210	MEFV	OMIM:608068
HP:0001954	Recurrent fever	57169	ZNFX1	OMIM:619644
HP:0001954	Recurrent fever	9948	WDR1	OMIM:150550
HP:0001954	Recurrent fever	22861	NLRP1	OMIM:617388
HP:0001954	Recurrent fever	6813	STXBP2	OMIM:613101
HP:0001954	Recurrent fever	51816	ADA2	OMIM:615688
HP:0001954	Recurrent fever	91662	NLRP12	OMIM:611762
HP:0001954	Recurrent fever	5376	PMP22	ORPHA:98916
HP:0001954	Recurrent fever	7132	TNFRSF1A	ORPHA:32960
HP:0001954	Recurrent fever	7132	TNFRSF1A	OMIM:142680
HP:0001954	Recurrent fever	91949	COG7	ORPHA:79333
HP:0001954	Recurrent fever	1991	ELANE	ORPHA:2686
HP:0001954	Recurrent fever	4068	SH2D1A	OMIM:308240
HP:0001954	Recurrent fever	55343	SLC35C1	ORPHA:99843
HP:0001954	Recurrent fever	427	ASAH1	ORPHA:333
HP:0001954	Recurrent fever	427	ASAH1	OMIM:228000
HP:0001954	Recurrent fever	5805	PTS	OMIM:261640
HP:0001954	Recurrent fever	55739	NAXD	OMIM:618321
HP:0001954	Recurrent fever	5966	REL	OMIM:619652
HP:0001954	Recurrent fever	64135	IFIH1	OMIM:619773
HP:0001954	Recurrent fever	10134	BCAP31	ORPHA:369939
HP:0001954	Recurrent fever	5692	PSMB4	OMIM:617591
HP:0001954	Recurrent fever	5698	PSMB9	OMIM:617591
HP:0001954	Recurrent fever	50619	DEF6	OMIM:619573
HP:0001954	Recurrent fever	200205	IBA57	OMIM:615330
HP:0001954	Recurrent fever	7128	TNFAIP3	OMIM:616744
HP:0001954	Recurrent fever	3977	LIFR	ORPHA:3206
HP:0001954	Recurrent fever	3977	LIFR	OMIM:601559
HP:0001954	Recurrent fever	84876	ORAI1	OMIM:612782
HP:0001954	Recurrent fever	100	ADA	OMIM:102700
HP:0001954	Recurrent fever	1777	DNASE2	OMIM:619858
HP:0001954	Recurrent fever	10616	RBCK1	OMIM:615895
HP:0001954	Recurrent fever	6786	STIM1	OMIM:612783
HP:0001954	Recurrent fever	6773	STAT2	OMIM:618886
HP:0001954	Recurrent fever	340061	STING1	OMIM:615934
HP:0001954	Recurrent fever	1585	CYP11B2	OMIM:203400
HP:0001954	Recurrent fever	506	ATP5F1B	OMIM:620085
HP:0001954	Recurrent fever	56984	PSMG2	OMIM:619183
HP:0001954	Recurrent fever	6850	SYK	OMIM:619381
HP:0001954	Recurrent fever	4914	NTRK1	ORPHA:642
HP:0001954	Recurrent fever	4914	NTRK1	OMIM:256800
HP:0001954	Recurrent fever	2000	ELF4	OMIM:301074
HP:0001954	Recurrent fever	5860	QDPR	OMIM:261630
HP:0001954	Recurrent fever	205327	C2orf69	OMIM:619423
HP:0001954	Recurrent fever	8737	RIPK1	OMIM:618852
HP:0001954	Recurrent fever	254428	SLC41A1	OMIM:619468
HP:0001954	Recurrent fever	341208	HEPHL1	OMIM:261990
HP:0001954	Recurrent fever	64127	NOD2	OMIM:617321
HP:0001954	Recurrent fever	2581	GALC	OMIM:245200
HP:0001954	Recurrent fever	1794	DOCK2	OMIM:616433
HP:0001954	Recurrent fever	55315	SLC29A3	ORPHA:168569
HP:0001954	Recurrent fever	6559	SLC12A3	OMIM:263800
HP:0001954	Recurrent fever	5696	PSMB8	OMIM:256040
HP:0001954	Recurrent fever	9244	CRLF1	OMIM:272430
HP:0001954	Recurrent fever	165918	RNF168	ORPHA:420741
HP:0001954	Recurrent fever	80216	ALPK1	OMIM:614979
HP:0001954	Recurrent fever	51095	TRNT1	OMIM:616084
HP:0001954	Recurrent fever	144811	LACC1	OMIM:618795
HP:0004911	Episodic metabolic acidosis	1497	CTNS	OMIM:219800
HP:0004911	Episodic metabolic acidosis	56922	MCCC1	OMIM:210200
HP:0004911	Episodic metabolic acidosis	27247	NFU1	OMIM:605711
HP:0004911	Episodic metabolic acidosis	4594	MMUT	OMIM:251000
HP:0004911	Episodic metabolic acidosis	35	ACADS	OMIM:201470
HP:0005964	Intermittent hypothermia	1644	DDC	OMIM:608643
HP:0005964	Intermittent hypothermia	1621	DBH	OMIM:223360
HP:0100915	Sclerosis of distal finger phalanx	7227	TRPS1	OMIM:190350
HP:0100915	Sclerosis of distal finger phalanx	10847	SRCAP	OMIM:136140
HP:0001985	Hypoketotic hypoglycemia	37	ACADVL	ORPHA:26793
HP:0001985	Hypoketotic hypoglycemia	3767	KCNJ11	ORPHA:276580
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	ORPHA:5
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	ORPHA:746
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	OMIM:609015
HP:0001985	Hypoketotic hypoglycemia	3172	HNF4A	ORPHA:263455
HP:0001985	Hypoketotic hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	OMIM:600649
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	ORPHA:228305
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	ORPHA:228308
HP:0001985	Hypoketotic hypoglycemia	3033	HADH	OMIM:231530
HP:0001985	Hypoketotic hypoglycemia	3033	HADH	ORPHA:71212
HP:0001985	Hypoketotic hypoglycemia	1374	CPT1A	OMIM:255120
HP:0001985	Hypoketotic hypoglycemia	7351	UCP2	ORPHA:276556
HP:0001985	Hypoketotic hypoglycemia	208	AKT2	ORPHA:293964
HP:0001985	Hypoketotic hypoglycemia	3032	HADHB	ORPHA:746
HP:0001985	Hypoketotic hypoglycemia	2645	GCK	ORPHA:79299
HP:0001985	Hypoketotic hypoglycemia	6833	ABCC8	ORPHA:276575
HP:0001985	Hypoketotic hypoglycemia	22845	DOLK	OMIM:610768
HP:0001985	Hypoketotic hypoglycemia	788	SLC25A20	ORPHA:159
HP:0005968	Temperature instability	283446	MYO1H	OMIM:619482
HP:0005968	Temperature instability	2215	FCGR3B	ORPHA:464370
HP:0005968	Temperature instability	440138	ALG11	ORPHA:280071
HP:0005968	Temperature instability	440138	ALG11	OMIM:613661
HP:0005968	Temperature instability	6571	SLC18A2	OMIM:618049
HP:0005968	Temperature instability	55823	VPS11	OMIM:616683
HP:0005968	Temperature instability	2260	FGFR1	ORPHA:220386
HP:0005968	Temperature instability	2260	FGFR1	ORPHA:93924
HP:0005968	Temperature instability	28514	DLL1	ORPHA:220386
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93926
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93924
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93925
HP:0005968	Temperature instability	10735	STAG2	ORPHA:220386
HP:0005968	Temperature instability	10735	STAG2	ORPHA:93925
HP:0005968	Temperature instability	2253	FGF8	ORPHA:220386
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93926
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93924
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93925
HP:0005968	Temperature instability	8243	SMC1A	ORPHA:220386
HP:0005968	Temperature instability	6496	SIX3	ORPHA:220386
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93926
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93924
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93925
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:220386
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93926
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93924
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93925
HP:0005968	Temperature instability	4838	NODAL	ORPHA:220386
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93926
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93924
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93925
HP:0005968	Temperature instability	6469	SHH	ORPHA:220386
HP:0005968	Temperature instability	6469	SHH	ORPHA:93926
HP:0005968	Temperature instability	6469	SHH	ORPHA:93924
HP:0005968	Temperature instability	6469	SHH	ORPHA:93925
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:220386
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93926
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93924
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93925
HP:0005968	Temperature instability	6491	STIL	ORPHA:220386
HP:0005968	Temperature instability	6491	STIL	ORPHA:93926
HP:0005968	Temperature instability	6491	STIL	ORPHA:93924
HP:0005968	Temperature instability	6491	STIL	ORPHA:93925
HP:0005968	Temperature instability	2619	GAS1	ORPHA:220386
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93926
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93924
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93925
HP:0005968	Temperature instability	84976	DISP1	ORPHA:220386
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93926
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93924
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93925
HP:0005968	Temperature instability	2736	GLI2	ORPHA:220386
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93926
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93924
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93925
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:220386
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93926
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93924
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93925
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:220386
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93926
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93924
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93925
HP:0005968	Temperature instability	50937	CDON	ORPHA:220386
HP:0005968	Temperature instability	50937	CDON	ORPHA:93926
HP:0005968	Temperature instability	50937	CDON	ORPHA:93924
HP:0005968	Temperature instability	50937	CDON	ORPHA:93925
HP:0005968	Temperature instability	54551	MAGEL2	ORPHA:398069
HP:0005968	Temperature instability	54551	MAGEL2	OMIM:176270
HP:0005968	Temperature instability	55164	SHQ1	OMIM:619922
HP:0005968	Temperature instability	23007	PLCH1	ORPHA:93925
HP:0005968	Temperature instability	1644	DDC	OMIM:608643
HP:0005968	Temperature instability	2581	GALC	ORPHA:206436
HP:0005968	Temperature instability	5660	PSAP	ORPHA:206436
HP:0005968	Temperature instability	8398	PLA2G6	ORPHA:35069
HP:0005968	Temperature instability	4001	LMNB1	ORPHA:99027
HP:0005968	Temperature instability	60386	SLC25A19	ORPHA:99742
HP:0005968	Temperature instability	7681	MKRN3	OMIM:176270
HP:0005968	Temperature instability	3653	IPW	OMIM:176270
HP:0005968	Temperature instability	791114	PWRN1	OMIM:176270
HP:0005968	Temperature instability	100033413	SNORD116-1	OMIM:176270
HP:0005968	Temperature instability	8924	HERC2	OMIM:176270
HP:0005968	Temperature instability	145624	PWAR1	OMIM:176270
HP:0005968	Temperature instability	23742	NPAP1	OMIM:176270
HP:0005968	Temperature instability	338433	SNORD115-1	OMIM:176270
HP:0005968	Temperature instability	6697	SPR	ORPHA:70594
HP:0005967	Mixed respiratory and metabolic acidosis	6261	RYR1	OMIM:145600
HP:0500173	Reflex asystolic syncope	4247	MGAT2	ORPHA:79329
HP:0500170	Abnormal concentration of acylcarnitine in the urine	3028	HSD17B10	ORPHA:391457
HP:0500170	Abnormal concentration of acylcarnitine in the urine	3028	HSD17B10	ORPHA:391428
HP:0500170	Abnormal concentration of acylcarnitine in the urine	10841	FTCD	ORPHA:51208
HP:0031806	Abnormal basophil count	171023	ASXL1	ORPHA:98849
HP:0031806	Abnormal basophil count	54790	TET2	ORPHA:98849
HP:0031806	Abnormal basophil count	3815	KIT	ORPHA:98849
HP:0031806	Abnormal basophil count	6427	SRSF2	ORPHA:98849
HP:0031806	Abnormal basophil count	60468	BACH2	OMIM:618394
HP:0031807	Increased basophil count	171023	ASXL1	ORPHA:98849
HP:0031807	Increased basophil count	54790	TET2	ORPHA:98849
HP:0031807	Increased basophil count	3815	KIT	ORPHA:98849
HP:0031807	Increased basophil count	6427	SRSF2	ORPHA:98849
HP:0031808	Decreased basophil count	60468	BACH2	OMIM:618394
HP:0031813	Colonic eosinophilia	84433	CARD11	OMIM:617638
HP:0031813	Colonic eosinophilia	3716	JAK1	OMIM:618999
HP:0031813	Colonic eosinophilia	10095	ARPC1B	OMIM:617718
HP:0031814	Palilalia	4137	MAPT	ORPHA:240094
HP:0031814	Palilalia	9213	XPR1	OMIM:616413
HP:0031814	Palilalia	80025	PANK2	OMIM:234200
HP:0005979	Metabolic ketoacidosis	686	BTD	OMIM:253260
HP:0005979	Metabolic ketoacidosis	686	BTD	ORPHA:79241
HP:0005979	Metabolic ketoacidosis	3172	HNF4A	ORPHA:263455
HP:0005979	Metabolic ketoacidosis	4594	MMUT	OMIM:251000
HP:0005979	Metabolic ketoacidosis	1537	CYC1	OMIM:615453
HP:0005972	Respiratory acidosis	3675	ITGA3	OMIM:614748
HP:0005973	Fructose intolerance	229	ALDOB	OMIM:229600
HP:0005974	Episodic ketoacidosis	38	ACAT1	OMIM:203750
HP:0005974	Episodic ketoacidosis	5019	OXCT1	OMIM:245050
HP:0005974	Episodic ketoacidosis	1537	CYC1	OMIM:615453
HP:0005974	Episodic ketoacidosis	6473	SHOX	ORPHA:314795
HP:0100925	Sclerosis of foot bone	4041	LRP5	OMIM:144750
HP:0100925	Sclerosis of foot bone	10682	EBP	OMIM:302960
HP:0100925	Sclerosis of foot bone	55768	NGLY1	ORPHA:404454
HP:0100925	Sclerosis of foot bone	23592	LEMD3	ORPHA:166119
HP:0000859	Hyperaldosteronism	6337	SCNN1A	OMIM:264350
HP:0000859	Hyperaldosteronism	7809	BSND	ORPHA:89938
HP:0000859	Hyperaldosteronism	7809	BSND	OMIM:602522
HP:0000859	Hyperaldosteronism	1188	CLCNKB	ORPHA:89938
HP:0000859	Hyperaldosteronism	1188	CLCNKB	OMIM:613090
HP:0000859	Hyperaldosteronism	1188	CLCNKB	OMIM:607364
HP:0000859	Hyperaldosteronism	1187	CLCNKA	ORPHA:89938
HP:0000859	Hyperaldosteronism	1187	CLCNKA	OMIM:613090
HP:0000859	Hyperaldosteronism	3766	KCNJ10	OMIM:612780
HP:0000859	Hyperaldosteronism	3766	KCNJ10	ORPHA:199343
HP:0000859	Hyperaldosteronism	3762	KCNJ5	OMIM:613677
HP:0000859	Hyperaldosteronism	3762	KCNJ5	ORPHA:37553
HP:0000859	Hyperaldosteronism	3643	INSR	ORPHA:508
HP:0000859	Hyperaldosteronism	6340	SCNN1G	OMIM:620126
HP:0000859	Hyperaldosteronism	6338	SCNN1B	OMIM:620125
HP:0000859	Hyperaldosteronism	84133	ZNRF3	ORPHA:1501
HP:0000859	Hyperaldosteronism	7157	TP53	ORPHA:1501
HP:0000859	Hyperaldosteronism	5573	PRKAR1A	ORPHA:1501
HP:0000859	Hyperaldosteronism	1499	CTNNB1	ORPHA:1501
HP:0000859	Hyperaldosteronism	1029	CDKN2A	ORPHA:1501
HP:0000859	Hyperaldosteronism	7015	TERT	ORPHA:1501
HP:0000859	Hyperaldosteronism	1181	CLCN2	OMIM:605635
HP:0000859	Hyperaldosteronism	6557	SLC12A1	OMIM:601678
HP:0000859	Hyperaldosteronism	776	CACNA1D	ORPHA:369929
HP:0000859	Hyperaldosteronism	3758	KCNJ1	OMIM:241200
HP:0000859	Hyperaldosteronism	4306	NR3C2	OMIM:177735
HP:0000859	Hyperaldosteronism	79798	ARMC5	ORPHA:189427
HP:0000859	Hyperaldosteronism	2778	GNAS	ORPHA:189427
HP:0000859	Hyperaldosteronism	8912	CACNA1H	OMIM:617027
HP:0000859	Hyperaldosteronism	1583	CYP11A1	OMIM:613743
HP:0000859	Hyperaldosteronism	1811	SLC26A3	OMIM:214700
HP:0000859	Hyperaldosteronism	3773	KCNJ16	OMIM:619406
HP:0000859	Hyperaldosteronism	1584	CYP11B1	OMIM:103900
HP:0000859	Hyperaldosteronism	4952	OCRL	ORPHA:534
HP:0000859	Hyperaldosteronism	3759	KCNJ2	ORPHA:37553
HP:0000859	Hyperaldosteronism	6559	SLC12A3	ORPHA:358
HP:0000859	Hyperaldosteronism	1585	CYP11B2	ORPHA:403
HP:0005977	Hypochloremic metabolic alkalosis	1187	CLCNKA	OMIM:613090
HP:0005977	Hypochloremic metabolic alkalosis	1188	CLCNKB	OMIM:613090
HP:0005977	Hypochloremic metabolic alkalosis	7809	BSND	OMIM:602522
HP:0005977	Hypochloremic metabolic alkalosis	54938	SARS2	OMIM:613845
HP:0005976	Hyperkalemic metabolic acidosis	27130	INVS	OMIM:602088
HP:0500183	Abnormal CSF carboxylic acid concentration	7915	ALDH5A1	OMIM:271980
HP:0500183	Abnormal CSF carboxylic acid concentration	435	ASL	OMIM:207900
HP:0500183	Abnormal CSF carboxylic acid concentration	1738	DLD	OMIM:246900
HP:0500183	Abnormal CSF carboxylic acid concentration	2752	GLUL	OMIM:610015
HP:0500183	Abnormal CSF carboxylic acid concentration	10157	AASS	ORPHA:2203
HP:0500183	Abnormal CSF carboxylic acid concentration	133686	NADK2	OMIM:616034
HP:0500183	Abnormal CSF carboxylic acid concentration	132	ADK	OMIM:614300
HP:0500183	Abnormal CSF carboxylic acid concentration	2643	GCH1	OMIM:233910
HP:0500183	Abnormal CSF carboxylic acid concentration	29968	PSAT1	OMIM:610992
HP:0500183	Abnormal CSF carboxylic acid concentration	388962	BOLA3	OMIM:614299
HP:0500183	Abnormal CSF carboxylic acid concentration	27247	NFU1	OMIM:605711
HP:0500183	Abnormal CSF carboxylic acid concentration	132158	GLYCTK	ORPHA:941
HP:0500183	Abnormal CSF carboxylic acid concentration	200205	IBA57	OMIM:615330
HP:0500183	Abnormal CSF carboxylic acid concentration	9361	LONP1	ORPHA:79243
HP:0500183	Abnormal CSF carboxylic acid concentration	5160	PDHA1	ORPHA:79243
HP:0500183	Abnormal CSF carboxylic acid concentration	1737	DLAT	ORPHA:79244
HP:0500183	Abnormal CSF carboxylic acid concentration	8050	PDHX	ORPHA:255182
HP:0500183	Abnormal CSF carboxylic acid concentration	100303755	PET117	OMIM:619063
HP:0500183	Abnormal CSF carboxylic acid concentration	4697	NDUFA4	OMIM:619065
HP:0500186	Abnormal CSF valine concentration	1738	DLD	OMIM:246900
HP:0500185	Abnormal CSF branched chain amino acid concentration	1738	DLD	OMIM:246900
HP:0500180	Abnormal circulating amino sulfonic acid concentration	10243	GPHN	OMIM:615501
HP:0500180	Abnormal circulating amino sulfonic acid concentration	8802	SUCLG1	OMIM:245400
HP:0500180	Abnormal circulating amino sulfonic acid concentration	6533	SLC6A6	OMIM:145350
HP:0500182	Hypotaurinemia	6533	SLC6A6	OMIM:145350
HP:0500181	Hypertaurinemia	10243	GPHN	OMIM:615501
HP:0500181	Hypertaurinemia	8802	SUCLG1	OMIM:245400
HP:0500187	Increased CSF valine concentration	1738	DLD	OMIM:246900
HP:0500189	Abnormal CSF leucine concentration	1738	DLD	OMIM:246900
HP:0005982	Reduced phenylalanine hydroxylase level	5053	PAH	OMIM:261600
HP:0005984	Elevated maternal serum alpha-fetoprotein	5339	PLEC	OMIM:226730
HP:0005984	Elevated maternal serum alpha-fetoprotein	3691	ITGB4	OMIM:226730
HP:0005984	Elevated maternal serum alpha-fetoprotein	4952	OCRL	OMIM:309000
HP:0005989	Redundant neck skin	23545	ATP6V0A2	ORPHA:357074
HP:0005989	Redundant neck skin	523	ATP6V1A	ORPHA:357074
HP:0005989	Redundant neck skin	529	ATP6V1E1	ORPHA:357074
HP:0005989	Redundant neck skin	84231	TRAF7	OMIM:618164
HP:0005989	Redundant neck skin	54496	PRMT7	OMIM:617157
HP:0005989	Redundant neck skin	8260	NAA10	OMIM:300855
HP:0005989	Redundant neck skin	2006	ELN	ORPHA:90348
HP:0005989	Redundant neck skin	10516	FBLN5	ORPHA:90348
HP:0005989	Redundant neck skin	5832	ALDH18A1	ORPHA:90348
HP:0005989	Redundant neck skin	55165	CEP55	OMIM:236500
HP:0005989	Redundant neck skin	6913	TBX15	ORPHA:93333
HP:0005989	Redundant neck skin	55593	OTUD5	OMIM:301056
HP:0005989	Redundant neck skin	9896	FIG4	OMIM:216340
HP:0005989	Redundant neck skin	9896	FIG4	ORPHA:3472
HP:0005989	Redundant neck skin	56945	MRPS22	OMIM:611719
HP:0005989	Redundant neck skin	79848	CSPP1	ORPHA:397715
HP:0005989	Redundant neck skin	9786	KIAA0586	ORPHA:397715
HP:0005989	Redundant neck skin	10682	EBP	OMIM:300960
HP:0005989	Redundant neck skin	55697	VAC14	ORPHA:3472
HP:0005989	Redundant neck skin	4716	NDUFB10	OMIM:619003
HP:0005989	Redundant neck skin	285590	SH3PXD2B	OMIM:249420
HP:0005989	Redundant neck skin	22884	WDR37	OMIM:618652
HP:0005989	Redundant neck skin	2623	GATA1	OMIM:190685
HP:0005989	Redundant neck skin	8621	CDK13	OMIM:617360
HP:0005989	Redundant neck skin	388015	RTL1	ORPHA:254528
HP:0005989	Redundant neck skin	388015	RTL1	ORPHA:96334
HP:0005989	Redundant neck skin	8788	DLK1	ORPHA:254528
HP:0005989	Redundant neck skin	8788	DLK1	ORPHA:96334
HP:0005989	Redundant neck skin	55384	MEG3	ORPHA:254528
HP:0005989	Redundant neck skin	55384	MEG3	ORPHA:96334
HP:0005989	Redundant neck skin	2263	FGFR2	OMIM:123790
HP:0005989	Redundant neck skin	51021	MRPS16	OMIM:610498
HP:0005989	Redundant neck skin	124997	WDR81	OMIM:617967
HP:0005989	Redundant neck skin	3265	HRAS	OMIM:218040
HP:0005989	Redundant neck skin	2683	B4GALT1	ORPHA:79332
HP:0005989	Redundant neck skin	5189	PEX1	OMIM:214100
HP:0005988	Congenital muscular torticollis	1303	COL12A1	ORPHA:536516
HP:0005988	Congenital muscular torticollis	9573	GDF3	ORPHA:2345
HP:0005988	Congenital muscular torticollis	392255	GDF6	ORPHA:2345
HP:0005988	Congenital muscular torticollis	392255	GDF6	OMIM:118100
HP:0005988	Congenital muscular torticollis	4222	MEOX1	ORPHA:2345
HP:0005988	Congenital muscular torticollis	8831	SYNGAP1	OMIM:612621
HP:0005988	Congenital muscular torticollis	5528	PPP2R5D	OMIM:616355
HP:0005988	Congenital muscular torticollis	5528	PPP2R5D	ORPHA:457279
HP:0005988	Congenital muscular torticollis	1291	COL6A1	OMIM:158810
HP:0005988	Congenital muscular torticollis	1292	COL6A2	OMIM:158810
HP:0005988	Congenital muscular torticollis	1293	COL6A3	OMIM:158810
HP:0005987	Multinodular goiter	23405	DICER1	OMIM:180295
HP:0005987	Multinodular goiter	23405	DICER1	ORPHA:276399
HP:0005987	Multinodular goiter	7840	ALMS1	OMIM:203800
HP:0005987	Multinodular goiter	9817	KEAP1	ORPHA:276399
HP:0005987	Multinodular goiter	23328	SASH1	OMIM:618373
HP:0005986	Limitation of neck motion	9241	NOG	OMIM:184460
HP:0005986	Limitation of neck motion	392255	GDF6	OMIM:118100
HP:0005986	Limitation of neck motion	4222	MEOX1	OMIM:214300
HP:0005986	Limitation of neck motion	6335	SCN9A	ORPHA:33069
HP:0005986	Limitation of neck motion	6326	SCN2A	ORPHA:33069
HP:0005986	Limitation of neck motion	2554	GABRA1	ORPHA:33069
HP:0005986	Limitation of neck motion	6324	SCN1B	ORPHA:33069
HP:0005986	Limitation of neck motion	57526	PCDH19	ORPHA:33069
HP:0005986	Limitation of neck motion	2566	GABRG2	ORPHA:33069
HP:0005986	Limitation of neck motion	90	ACVR1	OMIM:135100
HP:0005986	Limitation of neck motion	57190	SELENON	OMIM:602771
HP:0005986	Limitation of neck motion	57190	SELENON	ORPHA:324604
HP:0005986	Limitation of neck motion	4625	MYH7	ORPHA:324604
HP:0005986	Limitation of neck motion	4625	MYH7	ORPHA:437572
HP:0005986	Limitation of neck motion	7273	TTN	ORPHA:324604
HP:0005986	Limitation of neck motion	2273	FHL1	OMIM:300696
HP:0005986	Limitation of neck motion	4000	LMNA	OMIM:181350
HP:0005986	Limitation of neck motion	11160	ERLIN2	ORPHA:209951
HP:0005986	Limitation of neck motion	4621	MYH3	OMIM:193700
HP:0005986	Limitation of neck motion	1292	COL6A2	OMIM:255600
HP:0005986	Limitation of neck motion	91754	NEK9	OMIM:617022
HP:0005986	Limitation of neck motion	4722	NDUFS3	OMIM:618230
HP:0005986	Limitation of neck motion	1280	COL2A1	OMIM:616583
HP:0005986	Limitation of neck motion	22943	DKK1	ORPHA:268882
HP:0005986	Limitation of neck motion	54820	NDE1	ORPHA:2177
HP:0005986	Limitation of neck motion	3661	IRF3	OMIM:616532
HP:0005986	Limitation of neck motion	773	CACNA1A	ORPHA:569
HP:0005986	Limitation of neck motion	112476	PRRT2	ORPHA:569
HP:0005986	Limitation of neck motion	6323	SCN1A	ORPHA:569
HP:0005986	Limitation of neck motion	477	ATP1A2	ORPHA:569
HP:0005986	Limitation of neck motion	7187	TRAF3	ORPHA:1930
HP:0005986	Limitation of neck motion	81622	UNC93B1	ORPHA:1930
HP:0005986	Limitation of neck motion	148022	TICAM1	ORPHA:1930
HP:0005986	Limitation of neck motion	7098	TLR3	ORPHA:1930
HP:0005986	Limitation of neck motion	29110	TBK1	ORPHA:1930
HP:0005986	Limitation of neck motion	29895	MYL11	OMIM:619110
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	4868	NPHS1	ORPHA:839
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	5631	PRPS1	ORPHA:423479
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	54903	MKS1	OMIM:249000
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	4952	OCRL	OMIM:309000
HP:0011409	Abnormal placental membrane morphology	51371	POMP	OMIM:601952
HP:0011409	Abnormal placental membrane morphology	2706	GJB2	ORPHA:494
HP:0011409	Abnormal placental membrane morphology	2706	GJB2	OMIM:124500
HP:0011409	Abnormal placental membrane morphology	8626	TP63	ORPHA:1072
HP:0011409	Abnormal placental membrane morphology	162514	TRPV3	OMIM:614594
HP:0011409	Abnormal placental membrane morphology	25959	KANK2	OMIM:616099
HP:0011409	Abnormal placental membrane morphology	2733	GLE1	ORPHA:1486
HP:0011409	Abnormal placental membrane morphology	55612	FERMT1	OMIM:173650
HP:0011409	Abnormal placental membrane morphology	3848	KRT1	OMIM:146590
HP:0011409	Abnormal placental membrane morphology	56916	SMARCAD1	ORPHA:1658
HP:0011409	Abnormal placental membrane morphology	2697	GJA1	ORPHA:1010
HP:0011409	Abnormal placental membrane morphology	4014	LORICRIN	ORPHA:79395
HP:0011409	Abnormal placental membrane morphology	526	ATP6V1B2	ORPHA:79500
HP:0011409	Abnormal placental membrane morphology	57465	TBC1D24	ORPHA:79500
HP:0011409	Abnormal placental membrane morphology	10269	ZMPSTE24	OMIM:275210
HP:0011407	Proportionate tall stature	4221	MEN1	ORPHA:652
HP:0011407	Proportionate tall stature	4221	MEN1	ORPHA:99725
HP:0011407	Proportionate tall stature	1027	CDKN1B	ORPHA:652
HP:0011407	Proportionate tall stature	1026	CDKN1A	ORPHA:652
HP:0011407	Proportionate tall stature	1030	CDKN2B	ORPHA:652
HP:0011407	Proportionate tall stature	1031	CDKN2C	ORPHA:652
HP:0011407	Proportionate tall stature	4763	NF1	ORPHA:363700
HP:0011407	Proportionate tall stature	9049	AIP	ORPHA:99725
HP:0011407	Proportionate tall stature	1788	DNMT3A	ORPHA:404443
HP:0011407	Proportionate tall stature	5468	PPARG	ORPHA:528
HP:0011407	Proportionate tall stature	10555	AGPAT2	ORPHA:528
HP:0011407	Proportionate tall stature	284119	CAVIN1	ORPHA:528
HP:0011407	Proportionate tall stature	26580	BSCL2	ORPHA:528
HP:0011407	Proportionate tall stature	2353	FOS	ORPHA:528
HP:0011407	Proportionate tall stature	857	CAV1	ORPHA:528
HP:0011407	Proportionate tall stature	9158	FIBP	ORPHA:500095
HP:0011402	Demyelinating sensory neuropathy	4747	NEFL	ORPHA:99939
HP:0011402	Demyelinating sensory neuropathy	4747	NEFL	ORPHA:101085
HP:0011402	Demyelinating sensory neuropathy	65260	COA7	OMIM:618387
HP:0011401	Delayed peripheral myelination	57531	HACE1	ORPHA:464282
HP:0011401	Delayed peripheral myelination	171023	ASXL1	OMIM:605039
HP:0011406	Infancy onset short-trunk short stature	8838	CCN6	ORPHA:1159
HP:0011406	Infancy onset short-trunk short stature	22827	PUF60	ORPHA:508488
HP:0011406	Infancy onset short-trunk short stature	2972	BRF1	ORPHA:444072
HP:0011403	Abnormal umbilical cord blood vessel morphology	2294	FOXF1	OMIM:265380
HP:0011403	Abnormal umbilical cord blood vessel morphology	2294	FOXF1	ORPHA:210122
HP:0011403	Abnormal umbilical cord blood vessel morphology	7490	WT1	OMIM:608978
HP:0011403	Abnormal umbilical cord blood vessel morphology	5447	POR	OMIM:201750
HP:0011403	Abnormal umbilical cord blood vessel morphology	5977	DPF2	OMIM:618027
HP:0011403	Abnormal umbilical cord blood vessel morphology	2187	FANCB	OMIM:300514
HP:0011403	Abnormal umbilical cord blood vessel morphology	2187	FANCB	ORPHA:3412
HP:0011403	Abnormal umbilical cord blood vessel morphology	2627	GATA6	ORPHA:2255
HP:0011403	Abnormal umbilical cord blood vessel morphology	2627	GATA6	OMIM:600001
HP:0011403	Abnormal umbilical cord blood vessel morphology	374879	ZNF699	OMIM:619488
HP:0011403	Abnormal umbilical cord blood vessel morphology	91179	SCARF2	OMIM:600920
HP:0011403	Abnormal umbilical cord blood vessel morphology	117581	TWIST2	OMIM:200110
HP:0011403	Abnormal umbilical cord blood vessel morphology	54870	QRICH1	OMIM:617982
HP:0011403	Abnormal umbilical cord blood vessel morphology	202018	TAPT1	OMIM:616897
HP:0011403	Abnormal umbilical cord blood vessel morphology	4893	NRAS	OMIM:613224
HP:0011403	Abnormal umbilical cord blood vessel morphology	55784	MCTP2	ORPHA:1596
HP:0011403	Abnormal umbilical cord blood vessel morphology	55690	PACS1	OMIM:615009
HP:0011403	Abnormal umbilical cord blood vessel morphology	55690	PACS1	ORPHA:329224
HP:0011403	Abnormal umbilical cord blood vessel morphology	4625	MYH7	OMIM:613426
HP:0011403	Abnormal umbilical cord blood vessel morphology	2188	FANCF	OMIM:603467
HP:0011403	Abnormal umbilical cord blood vessel morphology	9897	WASHC5	OMIM:220210
HP:0011403	Abnormal umbilical cord blood vessel morphology	9897	WASHC5	ORPHA:7
HP:0011403	Abnormal umbilical cord blood vessel morphology	775	CACNA1C	OMIM:601005
HP:0011403	Abnormal umbilical cord blood vessel morphology	84992	PIGY	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	84720	PIGO	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	93210	PGAP3	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	284098	PIGW	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	27315	PGAP2	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	55650	PIGV	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	9487	PIGL	ORPHA:247262
HP:0011403	Abnormal umbilical cord blood vessel morphology	3190	HNRNPK	OMIM:616580
HP:0011403	Abnormal umbilical cord blood vessel morphology	3339	HSPG2	OMIM:224410
HP:0011403	Abnormal umbilical cord blood vessel morphology	3339	HSPG2	ORPHA:1865
HP:0011403	Abnormal umbilical cord blood vessel morphology	84231	TRAF7	OMIM:618164
HP:0011403	Abnormal umbilical cord blood vessel morphology	10463	SLC30A9	OMIM:617595
HP:0011403	Abnormal umbilical cord blood vessel morphology	10274	STAG1	OMIM:617635
HP:0011403	Abnormal umbilical cord blood vessel morphology	55901	THSD1	OMIM:620244
HP:0011403	Abnormal umbilical cord blood vessel morphology	7473	WNT3	OMIM:273395
HP:0011403	Abnormal umbilical cord blood vessel morphology	3239	HOXD13	ORPHA:887
HP:0011403	Abnormal umbilical cord blood vessel morphology	28952	CCDC22	ORPHA:7
HP:0011403	Abnormal umbilical cord blood vessel morphology	11011	TLK2	OMIM:618050
HP:0011403	Abnormal umbilical cord blood vessel morphology	1656	DDX6	OMIM:618653
HP:0011403	Abnormal umbilical cord blood vessel morphology	54903	MKS1	OMIM:249000
HP:0011403	Abnormal umbilical cord blood vessel morphology	23384	SPECC1L	OMIM:145420
HP:0011403	Abnormal umbilical cord blood vessel morphology	2783	GNB2	OMIM:619503
HP:0011403	Abnormal umbilical cord blood vessel morphology	5062	PAK2	OMIM:618458
HP:0011403	Abnormal umbilical cord blood vessel morphology	79633	FAT4	OMIM:615546
HP:0500195	Abnormal CSF glutamine family amino acid concentration	2752	GLUL	OMIM:610015
HP:0500195	Abnormal CSF glutamine family amino acid concentration	10157	AASS	ORPHA:2203
HP:0005990	Thyroid hypoplasia	8471	IRS4	OMIM:301035
HP:0005990	Thyroid hypoplasia	2737	GLI3	ORPHA:672
HP:0005990	Thyroid hypoplasia	84172	POLR1B	ORPHA:861
HP:0005990	Thyroid hypoplasia	9533	POLR1C	ORPHA:861
HP:0005990	Thyroid hypoplasia	51082	POLR1D	ORPHA:861
HP:0005990	Thyroid hypoplasia	6949	TCOF1	ORPHA:861
HP:0005990	Thyroid hypoplasia	7849	PAX8	OMIM:218700
HP:0005990	Thyroid hypoplasia	7849	PAX8	ORPHA:95720
HP:0005990	Thyroid hypoplasia	5626	PROP1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	89884	LHX4	ORPHA:226307
HP:0005990	Thyroid hypoplasia	8022	LHX3	ORPHA:226307
HP:0005990	Thyroid hypoplasia	5449	POU1F1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	8820	HESX1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	50814	NSDHL	OMIM:308050
HP:0005990	Thyroid hypoplasia	92949	ADAMTSL1	ORPHA:521445
HP:0005990	Thyroid hypoplasia	50506	DUOX2	ORPHA:226316
HP:0005990	Thyroid hypoplasia	1482	NKX2-5	OMIM:225250
HP:0005990	Thyroid hypoplasia	2783	GNB2	OMIM:619503
HP:0005990	Thyroid hypoplasia	7253	TSHR	OMIM:275200
HP:0005990	Thyroid hypoplasia	7253	TSHR	ORPHA:90673
HP:0005990	Thyroid hypoplasia	7253	TSHR	ORPHA:95720
HP:0005990	Thyroid hypoplasia	23522	KAT6B	ORPHA:3047
HP:0005990	Thyroid hypoplasia	8085	KMT2D	OMIM:620186
HP:0005990	Thyroid hypoplasia	7201	TRHR	ORPHA:99832
HP:0005990	Thyroid hypoplasia	5172	SLC26A4	ORPHA:95720
HP:0005990	Thyroid hypoplasia	7252	TSHB	ORPHA:90674
HP:0005991	Limited neck flexion	57190	SELENON	OMIM:602771
HP:0005991	Limited neck flexion	57190	SELENON	ORPHA:324604
HP:0005991	Limited neck flexion	4625	MYH7	ORPHA:324604
HP:0005991	Limited neck flexion	4625	MYH7	ORPHA:437572
HP:0005991	Limited neck flexion	7273	TTN	ORPHA:324604
HP:0005991	Limited neck flexion	2273	FHL1	OMIM:300696
HP:0000470	Short neck	8036	SHOC2	OMIM:607721
HP:0000470	Short neck	11253	MAN1B1	ORPHA:397941
HP:0000470	Short neck	11253	MAN1B1	OMIM:614202
HP:0000470	Short neck	8367	H4C5	OMIM:619950
HP:0000470	Short neck	8216	LZTR1	OMIM:616564
HP:0000470	Short neck	8216	LZTR1	OMIM:605275
HP:0000470	Short neck	6016	RIT1	OMIM:615355
HP:0000470	Short neck	2972	BRF1	OMIM:616202
HP:0000470	Short neck	2972	BRF1	ORPHA:444072
HP:0000470	Short neck	9820	CUL7	ORPHA:2616
HP:0000470	Short neck	9820	CUL7	OMIM:273750
HP:0000470	Short neck	23363	OBSL1	ORPHA:2616
HP:0000470	Short neck	23363	OBSL1	OMIM:612921
HP:0000470	Short neck	83987	CCDC8	ORPHA:2616
HP:0000470	Short neck	83987	CCDC8	OMIM:614205
HP:0000470	Short neck	55627	SMPD4	OMIM:618622
HP:0000470	Short neck	5361	PLXNA1	OMIM:619955
HP:0000470	Short neck	1836	SLC26A2	ORPHA:56304
HP:0000470	Short neck	1836	SLC26A2	OMIM:256050
HP:0000470	Short neck	1836	SLC26A2	ORPHA:93298
HP:0000470	Short neck	4125	MAN2B1	ORPHA:309282
HP:0000470	Short neck	6662	SOX9	ORPHA:140
HP:0000470	Short neck	341640	FREM2	OMIM:617666
HP:0000470	Short neck	65082	VPS33A	OMIM:617303
HP:0000470	Short neck	65082	VPS33A	ORPHA:505248
HP:0000470	Short neck	526	ATP6V1B2	OMIM:616455
HP:0000470	Short neck	526	ATP6V1B2	ORPHA:3473
HP:0000470	Short neck	2201	FBN2	OMIM:121050
HP:0000470	Short neck	3764	KCNJ8	ORPHA:1517
HP:0000470	Short neck	10060	ABCC9	ORPHA:1517
HP:0000470	Short neck	10060	ABCC9	OMIM:239850
HP:0000470	Short neck	84572	GNPTG	OMIM:252605
HP:0000470	Short neck	6023	RMRP	ORPHA:175
HP:0000470	Short neck	6023	RMRP	OMIM:607095
HP:0000470	Short neck	83696	TRAPPC9	OMIM:613192
HP:0000470	Short neck	1020	CDK5	OMIM:616342
HP:0000470	Short neck	9469	CHST3	OMIM:143095
HP:0000470	Short neck	9469	CHST3	OMIM:245600
HP:0000470	Short neck	10606	PAICS	OMIM:619859
HP:0000470	Short neck	4853	NOTCH2	OMIM:102500
HP:0000470	Short neck	4853	NOTCH2	ORPHA:955
HP:0000470	Short neck	55681	SCYL2	OMIM:618766
HP:0000470	Short neck	64359	NXN	ORPHA:1507
HP:0000470	Short neck	4920	ROR2	ORPHA:1507
HP:0000470	Short neck	4920	ROR2	OMIM:268310
HP:0000470	Short neck	3339	HSPG2	ORPHA:1865
HP:0000470	Short neck	3339	HSPG2	OMIM:255800
HP:0000470	Short neck	3339	HSPG2	ORPHA:800
HP:0000470	Short neck	2626	GATA4	ORPHA:251071
HP:0000470	Short neck	59341	TRPV4	OMIM:113500
HP:0000470	Short neck	59341	TRPV4	OMIM:168400
HP:0000470	Short neck	59341	TRPV4	OMIM:184252
HP:0000470	Short neck	7020	TFAP2A	OMIM:113620
HP:0000470	Short neck	1501	CTNND2	ORPHA:281
HP:0000470	Short neck	9037	SEMA5A	ORPHA:281
HP:0000470	Short neck	1301	COL11A1	OMIM:228520
HP:0000470	Short neck	1301	COL11A1	ORPHA:2021
HP:0000470	Short neck	93627	TBCK	ORPHA:488632
HP:0000470	Short neck	200734	SPRED2	OMIM:619745
HP:0000470	Short neck	64132	XYLT2	ORPHA:85194
HP:0000470	Short neck	10716	TBR1	ORPHA:1617
HP:0000470	Short neck	26040	SETBP1	OMIM:269150
HP:0000470	Short neck	26040	SETBP1	ORPHA:798
HP:0000470	Short neck	4247	MGAT2	OMIM:212066
HP:0000470	Short neck	3476	IGBP1	ORPHA:52055
HP:0000470	Short neck	3476	IGBP1	OMIM:300472
HP:0000470	Short neck	57167	SALL4	ORPHA:233
HP:0000470	Short neck	9935	MAFB	ORPHA:233
HP:0000470	Short neck	1123	CHN1	ORPHA:233
HP:0000470	Short neck	1947	EFNB1	OMIM:304110
HP:0000470	Short neck	92482	BBIP1	ORPHA:110
HP:0000470	Short neck	80184	CEP290	ORPHA:110
HP:0000470	Short neck	11020	IFT27	ORPHA:110
HP:0000470	Short neck	582	BBS1	ORPHA:110
HP:0000470	Short neck	49855	SCAPER	ORPHA:110
HP:0000470	Short neck	4867	NPHP1	ORPHA:110
HP:0000470	Short neck	51057	WDPCP	ORPHA:110
HP:0000470	Short neck	27241	BBS9	ORPHA:110
HP:0000470	Short neck	84984	CEP19	ORPHA:110
HP:0000470	Short neck	22954	TRIM32	ORPHA:110
HP:0000470	Short neck	54903	MKS1	ORPHA:110
HP:0000470	Short neck	54903	MKS1	OMIM:249000
HP:0000470	Short neck	79738	BBS10	ORPHA:110
HP:0000470	Short neck	123016	TTC8	ORPHA:110
HP:0000470	Short neck	26160	IFT172	ORPHA:110
HP:0000470	Short neck	583	BBS2	ORPHA:110
HP:0000470	Short neck	585	BBS4	ORPHA:110
HP:0000470	Short neck	8195	MKKS	ORPHA:110
HP:0000470	Short neck	54585	LZTFL1	ORPHA:110
HP:0000470	Short neck	55212	BBS7	ORPHA:110
HP:0000470	Short neck	166379	BBS12	ORPHA:110
HP:0000470	Short neck	10806	SDCCAG8	ORPHA:110
HP:0000470	Short neck	157657	CFAP418	ORPHA:110
HP:0000470	Short neck	84100	ARL6	ORPHA:110
HP:0000470	Short neck	129880	BBS5	ORPHA:110
HP:0000470	Short neck	80173	IFT74	ORPHA:110
HP:0000470	Short neck	9895	TECPR2	OMIM:615031
HP:0000470	Short neck	9895	TECPR2	ORPHA:320385
HP:0000470	Short neck	63895	PIEZO2	OMIM:114300
HP:0000470	Short neck	63895	PIEZO2	OMIM:248700
HP:0000470	Short neck	23126	POGZ	OMIM:616364
HP:0000470	Short neck	23126	POGZ	ORPHA:468678
HP:0000470	Short neck	51633	OTUD6B	OMIM:617452
HP:0000470	Short neck	51633	OTUD6B	ORPHA:505237
HP:0000470	Short neck	3572	IL6ST	OMIM:619750
HP:0000470	Short neck	5048	PAFAH1B1	ORPHA:217385
HP:0000470	Short neck	7531	YWHAE	ORPHA:217385
HP:0000470	Short neck	5604	MAP2K1	OMIM:615279
HP:0000470	Short neck	5604	MAP2K1	ORPHA:1340
HP:0000470	Short neck	5604	MAP2K1	OMIM:163950
HP:0000470	Short neck	92609	TIMM50	OMIM:617698
HP:0000470	Short neck	79770	TXNDC15	OMIM:619879
HP:0000470	Short neck	2990	GUSB	ORPHA:584
HP:0000470	Short neck	2990	GUSB	OMIM:253220
HP:0000470	Short neck	79796	ALG9	ORPHA:79328
HP:0000470	Short neck	79796	ALG9	OMIM:608776
HP:0000470	Short neck	79796	ALG9	OMIM:263210
HP:0000470	Short neck	79718	TBL1XR1	OMIM:602342
HP:0000470	Short neck	79718	TBL1XR1	ORPHA:487825
HP:0000470	Short neck	8314	BAP1	OMIM:619762
HP:0000470	Short neck	50485	SMARCAL1	ORPHA:1830
HP:0000470	Short neck	50485	SMARCAL1	OMIM:242900
HP:0000470	Short neck	9968	MED12	OMIM:305450
HP:0000470	Short neck	79728	PALB2	OMIM:610832
HP:0000470	Short neck	6925	TCF4	OMIM:610954
HP:0000470	Short neck	6925	TCF4	ORPHA:2896
HP:0000470	Short neck	2316	FLNA	OMIM:304120
HP:0000470	Short neck	91949	COG7	ORPHA:79333
HP:0000470	Short neck	91949	COG7	OMIM:608779
HP:0000470	Short neck	6473	SHOX	ORPHA:314795
HP:0000470	Short neck	124583	CANT1	OMIM:251450
HP:0000470	Short neck	124583	CANT1	ORPHA:1425
HP:0000470	Short neck	56975	FAM20C	ORPHA:1832
HP:0000470	Short neck	56975	FAM20C	OMIM:259775
HP:0000470	Short neck	2556	GABRA3	OMIM:301091
HP:0000470	Short neck	4621	MYH3	OMIM:178110
HP:0000470	Short neck	4621	MYH3	OMIM:618469
HP:0000470	Short neck	4621	MYH3	OMIM:193700
HP:0000470	Short neck	4621	MYH3	ORPHA:1147
HP:0000470	Short neck	2239	GPC4	ORPHA:373
HP:0000470	Short neck	2719	GPC3	ORPHA:373
HP:0000470	Short neck	55120	FANCL	OMIM:614083
HP:0000470	Short neck	3423	IDS	OMIM:309900
HP:0000470	Short neck	259232	NALCN	OMIM:616266
HP:0000470	Short neck	259232	NALCN	ORPHA:1147
HP:0000470	Short neck	259232	NALCN	ORPHA:371364
HP:0000470	Short neck	23483	TGDS	OMIM:616145
HP:0000470	Short neck	2260	FGFR1	OMIM:166250
HP:0000470	Short neck	25836	NIPBL	OMIM:122470
HP:0000470	Short neck	25836	NIPBL	ORPHA:199
HP:0000470	Short neck	2720	GLB1	OMIM:230500
HP:0000470	Short neck	7476	WNT7A	OMIM:276820
HP:0000470	Short neck	7476	WNT7A	ORPHA:2879
HP:0000470	Short neck	2317	FLNB	OMIM:272460
HP:0000470	Short neck	2317	FLNB	OMIM:108721
HP:0000470	Short neck	2317	FLNB	OMIM:108720
HP:0000470	Short neck	2778	GNAS	ORPHA:79443
HP:0000470	Short neck	2778	GNAS	ORPHA:79444
HP:0000470	Short neck	2778	GNAS	ORPHA:94089
HP:0000470	Short neck	2778	GNAS	OMIM:612463
HP:0000470	Short neck	2778	GNAS	OMIM:612462
HP:0000470	Short neck	2778	GNAS	OMIM:103580
HP:0000470	Short neck	1280	COL2A1	ORPHA:485
HP:0000470	Short neck	1280	COL2A1	ORPHA:94068
HP:0000470	Short neck	1280	COL2A1	OMIM:156550
HP:0000470	Short neck	1280	COL2A1	OMIM:183900
HP:0000470	Short neck	1280	COL2A1	OMIM:271700
HP:0000470	Short neck	1280	COL2A1	OMIM:151210
HP:0000470	Short neck	1280	COL2A1	ORPHA:93315
HP:0000470	Short neck	6135	RPL11	ORPHA:124
HP:0000470	Short neck	6138	RPL15	ORPHA:124
HP:0000470	Short neck	6229	RPS24	ORPHA:124
HP:0000470	Short neck	6125	RPL5	ORPHA:124
HP:0000470	Short neck	6204	RPS10	ORPHA:124
HP:0000470	Short neck	6224	RPS20	ORPHA:124
HP:0000470	Short neck	6165	RPL35A	ORPHA:124
HP:0000470	Short neck	2623	GATA1	ORPHA:124
HP:0000470	Short neck	6223	RPS19	ORPHA:124
HP:0000470	Short neck	6223	RPS19	OMIM:105650
HP:0000470	Short neck	6232	RPS27	ORPHA:124
HP:0000470	Short neck	6231	RPS26	ORPHA:124
HP:0000470	Short neck	11224	RPL35	ORPHA:124
HP:0000470	Short neck	6160	RPL31	ORPHA:124
HP:0000470	Short neck	6218	RPS17	ORPHA:124
HP:0000470	Short neck	6201	RPS7	ORPHA:124
HP:0000470	Short neck	6155	RPL27	ORPHA:124
HP:0000470	Short neck	6154	RPL26	ORPHA:124
HP:0000470	Short neck	6210	RPS15A	ORPHA:124
HP:0000470	Short neck	90121	TSR2	ORPHA:124
HP:0000470	Short neck	6141	RPL18	ORPHA:124
HP:0000470	Short neck	6235	RPS29	ORPHA:124
HP:0000470	Short neck	6234	RPS28	ORPHA:124
HP:0000470	Short neck	51816	ADA2	ORPHA:124
HP:0000470	Short neck	3845	KRAS	OMIM:600268
HP:0000470	Short neck	3845	KRAS	ORPHA:1340
HP:0000470	Short neck	6261	RYR1	OMIM:619542
HP:0000470	Short neck	9742	IFT140	OMIM:266920
HP:0000470	Short neck	54101	RIPK4	OMIM:263650
HP:0000470	Short neck	26173	INTS1	OMIM:618571
HP:0000470	Short neck	9427	ECEL1	OMIM:615065
HP:0000470	Short neck	93587	TRMT10A	OMIM:616033
HP:0000470	Short neck	93587	TRMT10A	ORPHA:391408
HP:0000470	Short neck	29968	PSAT1	OMIM:616038
HP:0000470	Short neck	29968	PSAT1	ORPHA:284417
HP:0000470	Short neck	5426	POLE	OMIM:618336
HP:0000470	Short neck	6654	SOS1	OMIM:610733
HP:0000470	Short neck	54808	DYM	ORPHA:239
HP:0000470	Short neck	54808	DYM	OMIM:607326
HP:0000470	Short neck	54808	DYM	OMIM:223800
HP:0000470	Short neck	2879	GPX4	OMIM:250220
HP:0000470	Short neck	9949	AMMECR1	OMIM:300990
HP:0000470	Short neck	4921	DDR2	OMIM:271665
HP:0000470	Short neck	22827	PUF60	ORPHA:508498
HP:0000470	Short neck	22827	PUF60	ORPHA:508488
HP:0000470	Short neck	22827	PUF60	OMIM:615583
HP:0000470	Short neck	65992	DDRGK1	OMIM:602557
HP:0000470	Short neck	65992	DDRGK1	ORPHA:93352
HP:0000470	Short neck	10466	COG5	ORPHA:263487
HP:0000470	Short neck	6909	TBX2	OMIM:618223
HP:0000470	Short neck	2187	FANCB	OMIM:300514
HP:0000470	Short neck	23314	SATB2	ORPHA:251028
HP:0000470	Short neck	8675	STX16	ORPHA:94089
HP:0000470	Short neck	55869	HDAC8	OMIM:300882
HP:0000470	Short neck	55869	HDAC8	ORPHA:199
HP:0000470	Short neck	91754	NEK9	OMIM:617022
HP:0000470	Short neck	55215	FANCI	OMIM:609053
HP:0000470	Short neck	5010	CLDN11	OMIM:619328
HP:0000470	Short neck	176	ACAN	OMIM:612813
HP:0000470	Short neck	176	ACAN	ORPHA:171866
HP:0000470	Short neck	9126	SMC3	OMIM:610759
HP:0000470	Short neck	9126	SMC3	ORPHA:199
HP:0000470	Short neck	79068	FTO	OMIM:612938
HP:0000470	Short neck	3417	IDH1	ORPHA:99646
HP:0000470	Short neck	4763	NF1	OMIM:601321
HP:0000470	Short neck	3039	HBA1	ORPHA:98791
HP:0000470	Short neck	3040	HBA2	ORPHA:98791
HP:0000470	Short neck	10940	POP1	OMIM:617396
HP:0000470	Short neck	54496	PRMT7	OMIM:617157
HP:0000470	Short neck	54496	PRMT7	ORPHA:464288
HP:0000470	Short neck	165	AEBP1	OMIM:618000
HP:0000470	Short neck	8260	NAA10	OMIM:300855
HP:0000470	Short neck	10082	GPC6	OMIM:258315
HP:0000470	Short neck	23389	MED13L	ORPHA:369891
HP:0000470	Short neck	23389	MED13L	OMIM:616789
HP:0000470	Short neck	1312	COMT	ORPHA:567
HP:0000470	Short neck	221037	JMJD1C	ORPHA:567
HP:0000470	Short neck	2812	GP1BB	ORPHA:567
HP:0000470	Short neck	6239	RREB1	ORPHA:567
HP:0000470	Short neck	6899	TBX1	ORPHA:567
HP:0000470	Short neck	7290	HIRA	ORPHA:567
HP:0000470	Short neck	9632	SEC24C	ORPHA:567
HP:0000470	Short neck	7353	UFD1	ORPHA:567
HP:0000470	Short neck	421	ARVCF	ORPHA:567
HP:0000470	Short neck	3265	HRAS	ORPHA:3071
HP:0000470	Short neck	3265	HRAS	OMIM:218040
HP:0000470	Short neck	7319	UBE2A	OMIM:300860
HP:0000470	Short neck	3977	LIFR	OMIM:601559
HP:0000470	Short neck	5277	PIGA	OMIM:300868
HP:0000470	Short neck	9244	CRLF1	OMIM:272430
HP:0000470	Short neck	285489	DOK7	OMIM:618389
HP:0000470	Short neck	29895	MYL11	OMIM:619110
HP:0000470	Short neck	145173	B3GLCT	OMIM:261540
HP:0000470	Short neck	145173	B3GLCT	ORPHA:709
HP:0000470	Short neck	26005	C2CD3	ORPHA:434179
HP:0000470	Short neck	6513	SLC2A1	ORPHA:168577
HP:0000470	Short neck	80036	TRPM3	OMIM:620224
HP:0000470	Short neck	4927	NUP88	OMIM:618393
HP:0000470	Short neck	3636	INPPL1	OMIM:258480
HP:0000470	Short neck	3636	INPPL1	ORPHA:3144
HP:0000470	Short neck	203068	TUBB	OMIM:156610
HP:0000470	Short neck	6872	TAF1	OMIM:300966
HP:0000470	Short neck	8567	MADD	OMIM:619004
HP:0000470	Short neck	51715	RAB23	OMIM:201000
HP:0000470	Short neck	23233	EXOC6B	OMIM:618395
HP:0000470	Short neck	2273	FHL1	OMIM:300718
HP:0000470	Short neck	2273	FHL1	OMIM:300696
HP:0000470	Short neck	2273	FHL1	ORPHA:98863
HP:0000470	Short neck	226	ALDOA	OMIM:611881
HP:0000470	Short neck	8450	CUL4B	ORPHA:85293
HP:0000470	Short neck	23169	SLC35D1	OMIM:269250
HP:0000470	Short neck	23169	SLC35D1	ORPHA:3144
HP:0000470	Short neck	84919	PPP1R15B	ORPHA:391408
HP:0000470	Short neck	4222	MEOX1	OMIM:214300
HP:0000470	Short neck	4222	MEOX1	ORPHA:2345
HP:0000470	Short neck	2799	GNS	OMIM:252940
HP:0000470	Short neck	673	BRAF	OMIM:613707
HP:0000470	Short neck	673	BRAF	OMIM:613706
HP:0000470	Short neck	673	BRAF	OMIM:115150
HP:0000470	Short neck	673	BRAF	ORPHA:1340
HP:0000470	Short neck	673	BRAF	OMIM:163950
HP:0000470	Short neck	126792	B3GALT6	OMIM:271640
HP:0000470	Short neck	89970	RSPRY1	ORPHA:457395
HP:0000470	Short neck	89970	RSPRY1	OMIM:616723
HP:0000470	Short neck	2733	GLE1	OMIM:611890
HP:0000470	Short neck	2733	GLE1	ORPHA:1486
HP:0000470	Short neck	51594	NBAS	OMIM:614800
HP:0000470	Short neck	168667	BMPER	ORPHA:66637
HP:0000470	Short neck	168667	BMPER	OMIM:608022
HP:0000470	Short neck	54187	NANS	OMIM:610442
HP:0000470	Short neck	4683	NBN	ORPHA:647
HP:0000470	Short neck	7474	WNT5A	OMIM:180700
HP:0000470	Short neck	7474	WNT5A	ORPHA:3107
HP:0000470	Short neck	1855	DVL1	OMIM:180700
HP:0000470	Short neck	1855	DVL1	ORPHA:3107
HP:0000470	Short neck	5727	PTCH1	ORPHA:77301
HP:0000470	Short neck	9897	WASHC5	ORPHA:7
HP:0000470	Short neck	28952	CCDC22	ORPHA:7
HP:0000470	Short neck	6913	TBX15	OMIM:260660
HP:0000470	Short neck	6913	TBX15	ORPHA:93333
HP:0000470	Short neck	84842	HPDL	OMIM:619026
HP:0000470	Short neck	8022	LHX3	ORPHA:231720
HP:0000470	Short neck	8022	LHX3	ORPHA:226307
HP:0000470	Short neck	8022	LHX3	OMIM:221750
HP:0000470	Short neck	51109	RDH11	ORPHA:436245
HP:0000470	Short neck	8243	SMC1A	OMIM:300590
HP:0000470	Short neck	8243	SMC1A	ORPHA:199
HP:0000470	Short neck	6399	TRAPPC2	ORPHA:93284
HP:0000470	Short neck	6399	TRAPPC2	OMIM:313400
HP:0000470	Short neck	9131	AIFM1	OMIM:300232
HP:0000470	Short neck	324	APC	ORPHA:261584
HP:0000470	Short neck	5393	EXOSC9	OMIM:618065
HP:0000470	Short neck	26128	KIFBP	OMIM:609460
HP:0000470	Short neck	23556	PIGN	ORPHA:2059
HP:0000470	Short neck	23556	PIGN	ORPHA:280633
HP:0000470	Short neck	161742	SPRED1	OMIM:611431
HP:0000470	Short neck	5894	RAF1	OMIM:611554
HP:0000470	Short neck	5894	RAF1	OMIM:611553
HP:0000470	Short neck	57539	WDR35	OMIM:613610
HP:0000470	Short neck	118429	ANTXR2	ORPHA:2176
HP:0000470	Short neck	1303	COL12A1	ORPHA:75840
HP:0000470	Short neck	1291	COL6A1	ORPHA:75840
HP:0000470	Short neck	1292	COL6A2	ORPHA:75840
HP:0000470	Short neck	1293	COL6A3	ORPHA:75840
HP:0000470	Short neck	58	ACTA1	ORPHA:171436
HP:0000470	Short neck	7169	TPM2	ORPHA:171436
HP:0000470	Short neck	7169	TPM2	ORPHA:1147
HP:0000470	Short neck	4703	NEB	ORPHA:171436
HP:0000470	Short neck	10324	KLHL41	ORPHA:171436
HP:0000470	Short neck	56203	LMOD3	ORPHA:171436
HP:0000470	Short neck	1073	CFL2	ORPHA:171436
HP:0000470	Short neck	4010	LMX1B	ORPHA:495818
HP:0000470	Short neck	6812	STXBP1	ORPHA:495818
HP:0000470	Short neck	80055	PGAP1	OMIM:615802
HP:0000470	Short neck	10847	SRCAP	ORPHA:2044
HP:0000470	Short neck	10847	SRCAP	OMIM:136140
HP:0000470	Short neck	1717	DHCR7	ORPHA:818
HP:0000470	Short neck	55780	ERMARD	ORPHA:75857
HP:0000470	Short neck	10978	CLP1	OMIM:615803
HP:0000470	Short neck	26153	KIF26A	OMIM:620156
HP:0000470	Short neck	9382	COG1	OMIM:611209
HP:0000470	Short neck	9382	COG1	ORPHA:263508
HP:0000470	Short neck	1146	CHRNG	OMIM:265000
HP:0000470	Short neck	84992	PIGY	ORPHA:247262
HP:0000470	Short neck	84992	PIGY	OMIM:616809
HP:0000470	Short neck	84720	PIGO	ORPHA:247262
HP:0000470	Short neck	93210	PGAP3	ORPHA:247262
HP:0000470	Short neck	284098	PIGW	ORPHA:247262
HP:0000470	Short neck	27315	PGAP2	ORPHA:247262
HP:0000470	Short neck	55650	PIGV	ORPHA:247262
HP:0000470	Short neck	9487	PIGL	ORPHA:247262
HP:0000470	Short neck	3899	AFF3	OMIM:619297
HP:0000470	Short neck	1009	CDH11	ORPHA:1299
HP:0000470	Short neck	1954	MEGF8	OMIM:614976
HP:0000470	Short neck	79867	TCTN2	OMIM:613885
HP:0000470	Short neck	1302	COL11A2	ORPHA:2021
HP:0000470	Short neck	1302	COL11A2	ORPHA:1427
HP:0000470	Short neck	79053	ALG8	OMIM:608104
HP:0000470	Short neck	3756	KCNH1	ORPHA:3473
HP:0000470	Short neck	3782	KCNN3	ORPHA:3473
HP:0000470	Short neck	3425	IDUA	OMIM:607014
HP:0000470	Short neck	3425	IDUA	OMIM:607016
HP:0000470	Short neck	3425	IDUA	ORPHA:93473
HP:0000470	Short neck	6911	TBX6	OMIM:122600
HP:0000470	Short neck	6911	TBX6	ORPHA:1797
HP:0000470	Short neck	374654	KIF7	OMIM:607131
HP:0000470	Short neck	26227	PHGDH	OMIM:256520
HP:0000470	Short neck	9653	HS2ST1	OMIM:619194
HP:0000470	Short neck	392255	GDF6	OMIM:118100
HP:0000470	Short neck	392255	GDF6	ORPHA:2345
HP:0000470	Short neck	4593	MUSK	OMIM:208150
HP:0000470	Short neck	5626	PROP1	ORPHA:226307
HP:0000470	Short neck	89884	LHX4	ORPHA:226307
HP:0000470	Short neck	5449	POU1F1	ORPHA:226307
HP:0000470	Short neck	8820	HESX1	ORPHA:226307
HP:0000470	Short neck	1857	DVL3	ORPHA:3107
HP:0000470	Short neck	1857	DVL3	OMIM:616894
HP:0000470	Short neck	2535	FZD2	ORPHA:3107
HP:0000470	Short neck	285175	UNC80	OMIM:616801
HP:0000470	Short neck	285175	UNC80	ORPHA:371364
HP:0000470	Short neck	54499	TMCO1	OMIM:213980
HP:0000470	Short neck	54499	TMCO1	ORPHA:1394
HP:0000470	Short neck	11128	POLR3A	OMIM:264090
HP:0000470	Short neck	55165	CEP55	OMIM:236500
HP:0000470	Short neck	157570	ESCO2	ORPHA:3103
HP:0000470	Short neck	157570	ESCO2	OMIM:268300
HP:0000470	Short neck	10236	HNRNPR	OMIM:620073
HP:0000470	Short neck	4089	SMAD4	OMIM:139210
HP:0000470	Short neck	5594	MAPK1	OMIM:619087
HP:0000470	Short neck	388015	RTL1	ORPHA:96334
HP:0000470	Short neck	8788	DLK1	ORPHA:96334
HP:0000470	Short neck	55384	MEG3	ORPHA:96334
HP:0000470	Short neck	3911	LAMA5	OMIM:620076
HP:0000470	Short neck	145873	MESP2	OMIM:608681
HP:0000470	Short neck	145873	MESP2	OMIM:277300
HP:0000470	Short neck	145873	MESP2	ORPHA:2311
HP:0000470	Short neck	546	ATRX	OMIM:309580
HP:0000470	Short neck	7140	TNNT3	ORPHA:1147
HP:0000470	Short neck	7136	TNNI2	ORPHA:1147
HP:0000470	Short neck	6611	SMS	OMIM:309583
HP:0000470	Short neck	51322	WAC	OMIM:616708
HP:0000470	Short neck	9321	TRIP11	ORPHA:93299
HP:0000470	Short neck	9321	TRIP11	OMIM:200600
HP:0000470	Short neck	2010	EMD	ORPHA:98863
HP:0000470	Short neck	701	BUB1B	OMIM:257300
HP:0000470	Short neck	10682	EBP	OMIM:302960
HP:0000470	Short neck	5781	PTPN11	OMIM:151100
HP:0000470	Short neck	5781	PTPN11	OMIM:163950
HP:0000470	Short neck	29123	ANKRD11	OMIM:148050
HP:0000470	Short neck	29123	ANKRD11	ORPHA:2332
HP:0000470	Short neck	2702	GJA5	OMIM:612474
HP:0000470	Short neck	2703	GJA8	OMIM:612474
HP:0000470	Short neck	867	CBL	OMIM:613563
HP:0000470	Short neck	51025	PAM16	OMIM:613320
HP:0000470	Short neck	84667	HES7	OMIM:613686
HP:0000470	Short neck	84667	HES7	ORPHA:2311
HP:0000470	Short neck	9573	GDF3	ORPHA:2345
HP:0000470	Short neck	4352	MPL	ORPHA:3319
HP:0000470	Short neck	7066	THPO	ORPHA:3319
HP:0000470	Short neck	27152	INTU	OMIM:617925
HP:0000470	Short neck	27152	INTU	OMIM:617926
HP:0000470	Short neck	2245	FGD1	ORPHA:915
HP:0000470	Short neck	2245	FGD1	OMIM:305400
HP:0000470	Short neck	90417	KNSTRN	OMIM:613328
HP:0000470	Short neck	5293	PIK3CD	OMIM:613328
HP:0000470	Short neck	6888	TALDO1	OMIM:606003
HP:0000470	Short neck	2261	FGFR3	OMIM:187600
HP:0000470	Short neck	55906	ZC4H2	OMIM:301041
HP:0000470	Short neck	55906	ZC4H2	OMIM:314580
HP:0000470	Short neck	27238	GPKOW	ORPHA:2570
HP:0000470	Short neck	579	NKX3-2	OMIM:613330
HP:0000470	Short neck	100151683	RNU4ATAC	OMIM:210710
HP:0000470	Short neck	100151683	RNU4ATAC	ORPHA:2636
HP:0000470	Short neck	2335	FN1	ORPHA:93315
HP:0000470	Short neck	9759	HDAC4	ORPHA:1001
HP:0000470	Short neck	4854	NOTCH3	OMIM:130720
HP:0000470	Short neck	4854	NOTCH3	ORPHA:2789
HP:0000470	Short neck	113179	ADAT3	ORPHA:363528
HP:0000470	Short neck	3313	HSPA9	OMIM:616854
HP:0000470	Short neck	4893	NRAS	OMIM:613224
HP:0000470	Short neck	91869	RFT1	OMIM:612015
HP:0000470	Short neck	10982	MAPRE2	OMIM:616734
HP:0000470	Short neck	10683	DLL3	OMIM:277300
HP:0000470	Short neck	10683	DLL3	ORPHA:2311
HP:0000470	Short neck	4204	MECP2	OMIM:300055
HP:0000470	Short neck	2068	ERCC2	ORPHA:1466
HP:0000470	Short neck	2067	ERCC1	ORPHA:1466
HP:0000470	Short neck	2074	ERCC6	ORPHA:1466
HP:0000470	Short neck	2073	ERCC5	ORPHA:1466
HP:0000470	Short neck	5925	RB1	ORPHA:1587
HP:0000470	Short neck	23511	NUP188	OMIM:618804
HP:0000470	Short neck	134701	RIPPLY2	ORPHA:2311
HP:0000470	Short neck	3955	LFNG	ORPHA:2311
HP:0000470	Short neck	5605	MAP2K2	ORPHA:1340
HP:0000470	Short neck	64131	XYLT1	OMIM:615777
HP:0000470	Short neck	64131	XYLT1	ORPHA:1425
HP:0000470	Short neck	10943	MSL3	OMIM:301032
HP:0000470	Short neck	5718	PSMD12	ORPHA:529962
HP:0000470	Short neck	2186	BPTF	ORPHA:529962
HP:0000470	Short neck	55969	RAB5IF	OMIM:616994
HP:0000470	Short neck	6638	SNRPN	ORPHA:177907
HP:0000470	Short neck	2313	FLI1	ORPHA:2308
HP:0000470	Short neck	29980	DONSON	OMIM:251230
HP:0000470	Short neck	60	ACTB	OMIM:243310
HP:0000470	Short neck	60	ACTB	ORPHA:2995
HP:0000470	Short neck	23476	BRD4	ORPHA:199
HP:0000470	Short neck	5885	RAD21	ORPHA:199
HP:0000470	Short neck	71	ACTG1	OMIM:614583
HP:0000470	Short neck	71	ACTG1	ORPHA:2995
HP:0000470	Short neck	10367	MICU1	OMIM:615673
HP:0000470	Short neck	2588	GALNS	OMIM:253000
HP:0000470	Short neck	1861	TOR1A	OMIM:618947
HP:0000470	Short neck	54361	WNT4	ORPHA:247768
HP:0000470	Short neck	91461	PKDCC	OMIM:618821
HP:0000470	Short neck	6182	MRPL12	OMIM:618951
HP:0000470	Short neck	202018	TAPT1	OMIM:616897
HP:0000470	Short neck	1806	DPYD	ORPHA:1675
HP:0000470	Short neck	28957	MRPS28	OMIM:618958
HP:0000470	Short neck	5500	PPP1CB	OMIM:617506
HP:0000470	Short neck	9786	KIAA0586	OMIM:616546
HP:0000470	Short neck	84700	MYO18B	OMIM:616549
HP:0000470	Short neck	10225	CD96	ORPHA:1308
HP:0000470	Short neck	55790	CSGALNACT1	ORPHA:1425
HP:0000470	Short neck	26229	B3GAT3	OMIM:245600
HP:0000470	Short neck	83452	RAB33B	OMIM:615222
HP:0000470	Short neck	22861	NLRP1	OMIM:615225
HP:0000470	Short neck	64221	ROBO3	ORPHA:2744
HP:0000470	Short neck	1630	DCC	ORPHA:2744
HP:0000470	Short neck	6655	SOS2	OMIM:616559
HP:0005994	Nodular goiter	23405	DICER1	OMIM:180295
HP:0005994	Nodular goiter	23405	DICER1	ORPHA:276399
HP:0005994	Nodular goiter	7840	ALMS1	OMIM:203800
HP:0005994	Nodular goiter	9817	KEAP1	ORPHA:276399
HP:0005994	Nodular goiter	23328	SASH1	OMIM:618373
HP:0005994	Nodular goiter	4313	MMP2	ORPHA:371428
HP:0005994	Nodular goiter	4323	MMP14	ORPHA:371428
HP:0005994	Nodular goiter	5979	RET	OMIM:162300
HP:0005994	Nodular goiter	2304	FOXE1	ORPHA:319487
HP:0005994	Nodular goiter	3026	HABP2	ORPHA:319487
HP:0005994	Nodular goiter	9562	MINPP1	ORPHA:319487
HP:0005997	Neck joint contracture	4000	LMNA	OMIM:181350
HP:0005997	Neck joint contracture	11160	ERLIN2	ORPHA:209951
HP:0005997	Neck joint contracture	4621	MYH3	OMIM:193700
HP:0005997	Neck joint contracture	1292	COL6A2	OMIM:255600
HP:0005995	Decreased adipose tissue around neck	857	CAV1	OMIM:606721
HP:0005995	Decreased adipose tissue around neck	10269	ZMPSTE24	OMIM:608612
HP:0005999	Ureteral atresia	55191	NADSYN1	OMIM:618845
HP:0005999	Ureteral atresia	57724	EPG5	ORPHA:1493
HP:0005999	Ureteral atresia	27031	NPHP3	OMIM:208540
HP:0011419	Placental abruption	2188	FANCF	OMIM:603467
HP:0011419	Placental abruption	3075	CFH	ORPHA:244242
HP:0011419	Placental abruption	3426	CFI	ORPHA:244242
HP:0011419	Placental abruption	4179	CD46	ORPHA:244242
HP:0011419	Placental abruption	101101692	HELLPAR	ORPHA:244242
HP:0011412	Ventouse delivery	6304	SATB1	OMIM:619229
HP:0011412	Ventouse delivery	9152	SLC6A5	OMIM:614618
HP:0011412	Ventouse delivery	1917	EEF1A2	OMIM:616393
HP:0011410	Caesarian section	57551	TAOK1	OMIM:619575
HP:0011410	Caesarian section	6872	TAF1	OMIM:300966
HP:0011410	Caesarian section	5447	POR	OMIM:201750
HP:0011410	Caesarian section	776	CACNA1D	ORPHA:369929
HP:0011410	Caesarian section	80816	ASXL3	OMIM:615485
HP:0011410	Caesarian section	55037	PTCD3	OMIM:619057
HP:0011410	Caesarian section	23287	AGTPBP1	OMIM:618276
HP:0011410	Caesarian section	4976	OPA1	OMIM:616896
HP:0011410	Caesarian section	6304	SATB1	OMIM:619229
HP:0011410	Caesarian section	4534	MTM1	OMIM:310400
HP:0011410	Caesarian section	11128	POLR3A	ORPHA:3455
HP:0011410	Caesarian section	4173	MCM4	OMIM:609981
HP:0011410	Caesarian section	411	ARSB	OMIM:253200
HP:0011410	Caesarian section	1584	CYP11B1	ORPHA:403
HP:0011410	Caesarian section	1585	CYP11B2	ORPHA:403
HP:0011414	Hydropic placenta	10269	ZMPSTE24	OMIM:275210
HP:0500196	Abnormal CSF glutamine concentration	2752	GLUL	OMIM:610015
HP:0500191	Increased CSF leucine concentration	1738	DLD	OMIM:246900
HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	3033	HADH	OMIM:231530
HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	3033	HADH	ORPHA:71212
HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	3030	HADHA	OMIM:609016
HP:0100952	Enlarged sylvian cistern	79029	AFG2B	OMIM:619616
HP:0100952	Enlarged sylvian cistern	9289	ADGRG1	OMIM:615752
HP:0100952	Enlarged sylvian cistern	80055	PGAP1	OMIM:615802
HP:0100952	Enlarged sylvian cistern	25782	RAB3GAP2	OMIM:212720
HP:0100952	Enlarged sylvian cistern	22930	RAB3GAP1	OMIM:600118
HP:0100953	Enlarged interhemispheric fissure	4361	MRE11	ORPHA:251347
HP:0100954	Open operculum	2271	FH	OMIM:606812
HP:0100954	Open operculum	2639	GCDH	ORPHA:25
HP:0100954	Open operculum	79848	CSPP1	ORPHA:397715
HP:0100954	Open operculum	9786	KIAA0586	ORPHA:397715
HP:0100954	Open operculum	54805	CNNM2	OMIM:616418
HP:0100954	Open operculum	26005	C2CD3	ORPHA:434179
HP:0100955	Giant cell granuloma of mandible	3845	KRAS	OMIM:600268
HP:0100958	Narrow foramen obturatorium	1235	CCR6	ORPHA:220393
HP:0100958	Narrow foramen obturatorium	1235	CCR6	ORPHA:220402
HP:0100958	Narrow foramen obturatorium	1490	CCN2	ORPHA:220393
HP:0100958	Narrow foramen obturatorium	1490	CCN2	ORPHA:220402
HP:0100958	Narrow foramen obturatorium	3663	IRF5	ORPHA:220393
HP:0100958	Narrow foramen obturatorium	3663	IRF5	ORPHA:220402
HP:0100958	Narrow foramen obturatorium	857	CAV1	ORPHA:220393
HP:0100958	Narrow foramen obturatorium	857	CAV1	ORPHA:220402
HP:0100958	Narrow foramen obturatorium	3123	HLA-DRB1	ORPHA:220393
HP:0100958	Narrow foramen obturatorium	3123	HLA-DRB1	ORPHA:220402
HP:0100958	Narrow foramen obturatorium	79932	KIAA0319L	ORPHA:220402
HP:0100959	Dense metaphyseal bands	9842	PLEKHM1	OMIM:611497
HP:0100959	Dense metaphyseal bands	79705	LRRK1	OMIM:615198
HP:0011420	Age of death	83483	PLVAP	OMIM:618183
HP:0011420	Age of death	10128	LRPPRC	OMIM:220111
HP:0011420	Age of death	199857	ALG14	OMIM:619036
HP:0011420	Age of death	3551	IKBKB	OMIM:615592
HP:0011420	Age of death	341640	FREM2	ORPHA:2052
HP:0011420	Age of death	80144	FRAS1	ORPHA:2052
HP:0011420	Age of death	83700	JAM3	OMIM:613730
HP:0011420	Age of death	10059	DNM1L	OMIM:614388
HP:0011420	Age of death	55627	SMPD4	OMIM:618622
HP:0011420	Age of death	51	ACOX1	ORPHA:2971
HP:0011420	Age of death	2731	GLDC	OMIM:605899
HP:0011420	Age of death	275	AMT	OMIM:605899
HP:0011420	Age of death	65993	MRPS34	OMIM:617664
HP:0011420	Age of death	80816	ASXL3	OMIM:615485
HP:0011420	Age of death	1352	COX10	OMIM:619046
HP:0011420	Age of death	387787	LIPT2	OMIM:617668
HP:0011420	Age of death	4056	LTC4S	OMIM:614037
HP:0011420	Age of death	2137	EXTL3	OMIM:617425
HP:0011420	Age of death	5979	RET	ORPHA:99803
HP:0011420	Age of death	429	ASCL1	ORPHA:99803
HP:0011420	Age of death	8929	PHOX2B	ORPHA:99803
HP:0011420	Age of death	1410	CRYAB	OMIM:613869
HP:0011420	Age of death	6439	SFTPB	OMIM:265120
HP:0011420	Age of death	7259	TSPYL1	ORPHA:168593
HP:0011420	Age of death	55687	TRMU	OMIM:613070
HP:0011420	Age of death	3899	AFF3	OMIM:619297
HP:0011420	Age of death	1020	CDK5	OMIM:616342
HP:0011420	Age of death	150094	SIK1	OMIM:616341
HP:0011420	Age of death	1272	CNTN1	OMIM:612540
HP:0011420	Age of death	84876	ORAI1	OMIM:612782
HP:0011420	Age of death	3988	LIPA	OMIM:278000
HP:0011420	Age of death	6773	STAT2	OMIM:618886
HP:0011420	Age of death	64359	NXN	ORPHA:1507
HP:0011420	Age of death	4920	ROR2	ORPHA:1507
HP:0011420	Age of death	21	ABCA3	OMIM:610921
HP:0011420	Age of death	546	ATRX	ORPHA:847
HP:0011420	Age of death	54675	CRLS1	OMIM:620167
HP:0011420	Age of death	1717	DHCR7	OMIM:270400
HP:0011420	Age of death	118429	ANTXR2	ORPHA:2028
HP:0011420	Age of death	388962	BOLA3	OMIM:614299
HP:0011420	Age of death	4632	MYL1	OMIM:618414
HP:0011420	Age of death	63894	VIPAS39	OMIM:613404
HP:0011420	Age of death	79053	ALG8	OMIM:608104
HP:0011420	Age of death	63901	FAM111A	OMIM:602361
HP:0011420	Age of death	26154	ABCA12	OMIM:242500
HP:0011420	Age of death	65080	MRPL44	OMIM:615395
HP:0011420	Age of death	5190	PEX6	OMIM:614862
HP:0011420	Age of death	5190	PEX6	ORPHA:912
HP:0011420	Age of death	9255	AIMP1	OMIM:260600
HP:0011420	Age of death	10013	HDAC6	ORPHA:163966
HP:0011420	Age of death	128674	PROKR2	ORPHA:95496
HP:0011420	Age of death	89884	LHX4	ORPHA:95496
HP:0011420	Age of death	55717	WDR11	ORPHA:95496
HP:0011420	Age of death	6091	ROBO1	ORPHA:95496
HP:0011420	Age of death	8820	HESX1	ORPHA:95496
HP:0011420	Age of death	50937	CDON	ORPHA:95496
HP:0011420	Age of death	23432	GPR161	ORPHA:95496
HP:0011420	Age of death	23474	ETHE1	OMIM:602473
HP:0011420	Age of death	51611	DPH5	OMIM:620070
HP:0011420	Age of death	6628	SNRPB	ORPHA:1393
HP:0011420	Age of death	8818	DPM2	OMIM:615042
HP:0011420	Age of death	10436	EMG1	ORPHA:1270
HP:0011420	Age of death	55670	PEX26	OMIM:614872
HP:0011420	Age of death	55670	PEX26	ORPHA:912
HP:0011420	Age of death	9409	PEX16	OMIM:614876
HP:0011420	Age of death	9409	PEX16	ORPHA:912
HP:0011420	Age of death	25802	LMOD1	ORPHA:2241
HP:0011420	Age of death	4629	MYH11	ORPHA:2241
HP:0011420	Age of death	72	ACTG2	ORPHA:2241
HP:0011420	Age of death	4638	MYLK	ORPHA:2241
HP:0011420	Age of death	2239	GPC4	ORPHA:373
HP:0011420	Age of death	2719	GPC3	ORPHA:373
HP:0011420	Age of death	4000	LMNA	ORPHA:157973
HP:0011420	Age of death	8504	PEX3	OMIM:614882
HP:0011420	Age of death	8504	PEX3	ORPHA:912
HP:0011420	Age of death	54916	TMEM260	OMIM:617478
HP:0011420	Age of death	2261	FGFR3	OMIM:100800
HP:0011420	Age of death	2720	GLB1	OMIM:230500
HP:0011420	Age of death	3914	LAMB3	OMIM:226700
HP:0011420	Age of death	27247	NFU1	OMIM:605711
HP:0011420	Age of death	51645	PPIL1	OMIM:619301
HP:0011420	Age of death	51362	CDC40	OMIM:619302
HP:0011420	Age of death	4633	MYL2	OMIM:619424
HP:0011420	Age of death	91137	SLC25A46	OMIM:619303
HP:0011420	Age of death	1892	ECHS1	OMIM:616277
HP:0011420	Age of death	27429	HTRA2	OMIM:617248
HP:0011420	Age of death	57724	EPG5	ORPHA:1493
HP:0011420	Age of death	5824	PEX19	ORPHA:912
HP:0011420	Age of death	8799	PEX11B	ORPHA:912
HP:0011420	Age of death	5193	PEX12	ORPHA:912
HP:0011420	Age of death	5194	PEX13	ORPHA:912
HP:0011420	Age of death	5195	PEX14	ORPHA:912
HP:0011420	Age of death	5192	PEX10	ORPHA:912
HP:0011420	Age of death	56052	ALG1	OMIM:608540
HP:0011420	Age of death	9488	PIGB	OMIM:618580
HP:0011420	Age of death	91949	COG7	OMIM:608779
HP:0011420	Age of death	10112	KIF20A	OMIM:619433
HP:0011420	Age of death	5339	PLEC	OMIM:226730
HP:0011420	Age of death	3691	ITGB4	OMIM:226730
HP:0011420	Age of death	112	ADCY6	OMIM:616287
HP:0011420	Age of death	2187	FANCB	OMIM:300514
HP:0011420	Age of death	56203	LMOD3	OMIM:616165
HP:0011420	Age of death	9526	MPDU1	OMIM:609180
HP:0011420	Age of death	4729	NDUFV2	OMIM:618229
HP:0011420	Age of death	256297	PTF1A	OMIM:609069
HP:0011420	Age of death	56945	MRPS22	OMIM:611719
HP:0011420	Age of death	4695	NDUFA2	OMIM:618235
HP:0011420	Age of death	6809	STX3	OMIM:619446
HP:0011420	Age of death	51601	LIPT1	OMIM:616299
HP:0011420	Age of death	54931	TRMT10C	OMIM:616974
HP:0011420	Age of death	5660	PSAP	ORPHA:139406
HP:0011420	Age of death	5660	PSAP	OMIM:611721
HP:0011420	Age of death	5660	PSAP	OMIM:611722
HP:0011420	Age of death	29968	PSAT1	OMIM:610992
HP:0011420	Age of death	10683	DLL3	OMIM:277300
HP:0011420	Age of death	145873	MESP2	OMIM:277300
HP:0011420	Age of death	4952	OCRL	ORPHA:534
HP:0011420	Age of death	56975	FAM20C	OMIM:259775
HP:0011420	Age of death	170302	ARX	ORPHA:452
HP:0011420	Age of death	5980	REV3L	ORPHA:570
HP:0011420	Age of death	23129	PLXND1	ORPHA:570
HP:0011420	Age of death	537	ATP6AP1	OMIM:300972
HP:0011420	Age of death	25915	NDUFAF3	OMIM:618240
HP:0011420	Age of death	4998	ORC1	OMIM:224690
HP:0011420	Age of death	7019	TFAM	OMIM:617156
HP:0011420	Age of death	2073	ERCC5	ORPHA:1466
HP:0011420	Age of death	7965	AIMP2	OMIM:618006
HP:0011420	Age of death	2917	GRM7	OMIM:618922
HP:0011420	Age of death	22845	DOLK	OMIM:610768
HP:0011420	Age of death	64093	SMOC1	ORPHA:1106
HP:0011420	Age of death	6821	SUOX	OMIM:272300
HP:0011420	Age of death	1641	DCX	OMIM:300067
HP:0011420	Age of death	26276	VPS33B	OMIM:208085
HP:0011420	Age of death	3977	LIFR	OMIM:601559
HP:0011420	Age of death	4905	NSF	OMIM:619340
HP:0011420	Age of death	5277	PIGA	OMIM:300868
HP:0011420	Age of death	57511	COG6	OMIM:614576
HP:0011420	Age of death	9971	NR1H4	OMIM:617049
HP:0011420	Age of death	9419	CRIPT	OMIM:615789
HP:0011420	Age of death	2313	FLI1	ORPHA:2308
HP:0011420	Age of death	60386	SLC25A19	ORPHA:99742
HP:0011420	Age of death	9997	SCO2	OMIM:604377
HP:0011420	Age of death	80347	COASY	OMIM:618266
HP:0011420	Age of death	51241	COX16	OMIM:619355
HP:0011420	Age of death	37	ACADVL	OMIM:201475
HP:0011420	Age of death	1861	TOR1A	OMIM:618947
HP:0011420	Age of death	29957	SLC25A24	OMIM:612289
HP:0011420	Age of death	8087	FXR1	OMIM:618822
HP:0011420	Age of death	3704	ITPA	OMIM:616647
HP:0011420	Age of death	6608	SMO	OMIM:241800
HP:0011420	Age of death	658	BMPR1B	ORPHA:2098
HP:0011420	Age of death	3425	IDUA	ORPHA:93473
HP:0011420	Age of death	291	SLC25A4	OMIM:617184
HP:0011420	Age of death	55278	QRSL1	OMIM:618835
HP:0011420	Age of death	7284	TUFM	OMIM:610678
HP:0011420	Age of death	4645	MYO5B	OMIM:251850
HP:0011420	Age of death	283459	GATC	OMIM:618839
HP:0011420	Age of death	1376	CPT2	OMIM:608836
HP:0011420	Age of death	6123	RPL3L	OMIM:619371
HP:0011420	Age of death	57020	VPS35L	OMIM:619135
HP:0011420	Age of death	29954	POMT2	OMIM:613150
HP:0011420	Age of death	4724	NDUFS4	OMIM:252010
HP:0011420	Age of death	10491	CRTAP	OMIM:610682
HP:0011420	Age of death	55191	NADSYN1	OMIM:618845
HP:0011420	Age of death	10225	CD96	ORPHA:1308
HP:0011420	Age of death	9939	RBM8A	OMIM:274000
HP:0011420	Age of death	23529	CLCF1	ORPHA:1545
HP:0011420	Age of death	9244	CRLF1	ORPHA:1545
HP:0011420	Age of death	9897	WASHC5	ORPHA:7
HP:0011420	Age of death	28952	CCDC22	ORPHA:7
HP:0011420	Age of death	9054	NFS1	OMIM:619386
HP:0011420	Age of death	4893	NRAS	OMIM:249400
HP:0011420	Age of death	221927	BRAT1	OMIM:614498
HP:0011420	Age of death	131377	KLHL40	OMIM:615348
HP:0011420	Age of death	255758	DYNLT2B	OMIM:617405
HP:0011420	Age of death	2294	FOXF1	OMIM:265380
HP:0011420	Age of death	23019	CNOT1	OMIM:618500
HP:0011420	Age of death	8506	CNTNAP1	OMIM:618186
HP:0011420	Age of death	8496	PPFIBP1	OMIM:620024
HP:0011420	Age of death	64220	STRA6	OMIM:601186
HP:0011420	Age of death	80222	TARS2	OMIM:615918
HP:0011420	Age of death	6392	SDHD	OMIM:619167
HP:0011420	Age of death	4726	NDUFS6	OMIM:618232
HP:0011420	Age of death	29078	NDUFAF4	OMIM:618237
HP:0011420	Age of death	5915	RARB	OMIM:615524
HP:0011420	Age of death	2733	GLE1	OMIM:253310
HP:0011420	Age of death	2733	GLE1	OMIM:611890
HP:0011420	Age of death	54539	NDUFB11	OMIM:301021
HP:0011420	Age of death	10606	PAICS	OMIM:619859
HP:0011420	Age of death	439	GET3	OMIM:620203
HP:0011420	Age of death	1509	CTSD	OMIM:610127
HP:0011420	Age of death	1910	EDNRB	OMIM:600501
HP:0011420	Age of death	55210	ATAD3A	OMIM:618810
HP:0011420	Age of death	4338	MOCS2	OMIM:252160
HP:0011420	Age of death	51021	MRPS16	OMIM:610498
HP:0011420	Age of death	2752	GLUL	OMIM:610015
HP:0011420	Age of death	2737	GLI3	OMIM:146510
HP:0011420	Age of death	29980	DONSON	OMIM:251230
HP:0011420	Age of death	6862	TBXT	OMIM:615709
HP:0011420	Age of death	8241	RBM10	OMIM:311900
HP:0011420	Age of death	5314	PKHD1	OMIM:263200
HP:0011420	Age of death	7547	ZIC3	OMIM:314390
HP:0011420	Age of death	4716	NDUFB10	OMIM:619003
HP:0011420	Age of death	27031	NPHP3	OMIM:208540
HP:0011420	Age of death	23396	PIP5K1C	OMIM:611369
HP:0011420	Age of death	79989	IFT56	OMIM:619534
HP:0011420	Age of death	442721	LMOD2	OMIM:619897
HP:0011420	Age of death	3655	ITGA6	OMIM:619817
HP:0011420	Age of death	55901	THSD1	OMIM:620244
HP:0011420	Age of death	10243	GPHN	OMIM:615501
HP:0011420	Age of death	27152	INTU	OMIM:617925
HP:0011420	Age of death	498	ATP5F1A	OMIM:615228
HP:0011420	Age of death	2108	ETFA	OMIM:231680
HP:0011420	Age of death	2109	ETFB	OMIM:231680
HP:0011420	Age of death	2110	ETFDH	OMIM:231680
HP:0011420	Age of death	2074	ERCC6	OMIM:133540
HP:0011420	Age of death	2074	ERCC6	OMIM:214150
HP:0011420	Age of death	1738	DLD	OMIM:246900
HP:0011420	Age of death	79717	PPCS	OMIM:618189
HP:0011420	Age of death	374291	NDUFS7	OMIM:618224
HP:0011420	Age of death	4723	NDUFV1	OMIM:618225
HP:0011420	Age of death	4574	MT-TS1	OMIM:220110
HP:0011420	Age of death	4570	MT-TN	OMIM:220110
HP:0011420	Age of death	6834	SURF1	OMIM:220110
HP:0011420	Age of death	8425	LTBP4	OMIM:613177
HP:0011420	Age of death	100151683	RNU4ATAC	OMIM:210710
HP:0011420	Age of death	201595	STT3B	OMIM:615597
HP:0011420	Age of death	51412	ACTL6B	OMIM:618468
HP:0011420	Age of death	4967	OGDH	OMIM:203740
HP:0011420	Age of death	10667	FARS2	OMIM:614946
HP:0011420	Age of death	5830	PEX5	OMIM:214110
HP:0011420	Age of death	10102	TSFM	OMIM:610505
HP:0011420	Age of death	197131	UBR1	OMIM:243800
HP:0011420	Age of death	55610	VPS50	OMIM:619685
HP:0011420	Age of death	3074	HEXB	OMIM:268800
HP:0011420	Age of death	23149	FCHO1	OMIM:619164
HP:0011420	Age of death	477	ATP1A2	OMIM:619605
HP:0011420	Age of death	1841	DTYMK	OMIM:619847
HP:0011420	Age of death	790	CAD	OMIM:616457
HP:0011420	Age of death	2670	GFAP	OMIM:203450
HP:0011420	Age of death	79631	EFL1	OMIM:617941
HP:0011420	Age of death	65082	VPS33A	OMIM:617303
HP:0011420	Age of death	2068	ERCC2	OMIM:610756
HP:0011420	Age of death	79158	GNPTAB	OMIM:252500
HP:0011420	Age of death	2067	ERCC1	OMIM:610758
HP:0011420	Age of death	5189	PEX1	OMIM:214100
HP:0011420	Age of death	79068	FTO	OMIM:612938
HP:0011420	Age of death	4784	NFIX	OMIM:602535
HP:0011420	Age of death	8647	ABCB11	OMIM:601847
HP:0011420	Age of death	4703	NEB	OMIM:619334
HP:0011420	Age of death	60561	RINT1	OMIM:618641
HP:0011420	Age of death	100131801	PET100	OMIM:619055
HP:0011420	Age of death	7084	TK2	OMIM:609560
HP:0011420	Age of death	23229	ARHGEF9	OMIM:300607
HP:0011420	Age of death	1801	DPH1	OMIM:616901
HP:0011420	Age of death	8792	TNFRSF11A	OMIM:612301
HP:0011420	Age of death	80746	TSEN2	OMIM:612389
HP:0011420	Age of death	55681	SCYL2	OMIM:618766
HP:0011420	Age of death	8772	FADD	OMIM:613759
HP:0011420	Age of death	3913	LAMB2	OMIM:609049
HP:0011420	Age of death	6606	SMN1	OMIM:253300
HP:0011420	Age of death	91647	ATPAF2	OMIM:604273
HP:0011420	Age of death	8802	SUCLG1	OMIM:245400
HP:0011420	Age of death	9377	COX5A	OMIM:619064
HP:0011420	Age of death	3155	HMGCL	OMIM:246450
HP:0011420	Age of death	22872	SEC31A	OMIM:618651
HP:0011420	Age of death	54968	TMEM70	OMIM:614052
HP:0011420	Age of death	497661	C18orf32	OMIM:619985
HP:0011420	Age of death	51300	TIMMDC1	OMIM:618251
HP:0011420	Age of death	7174	TPP2	OMIM:619220
HP:0011420	Age of death	4714	NDUFB8	OMIM:618252
HP:0011420	Age of death	6785	ELOVL4	OMIM:614457
HP:0011420	Age of death	113278	SLC52A3	OMIM:211530
HP:0011420	Age of death	1174	AP1S1	OMIM:609313
HP:0011420	Age of death	5373	PMM2	OMIM:212065
HP:0011420	Age of death	7490	WT1	OMIM:608978
HP:0011420	Age of death	11340	EXOSC8	OMIM:616081
HP:0011420	Age of death	57217	TTC7A	OMIM:243150
HP:0011420	Age of death	3852	KRT5	OMIM:619599
HP:0011420	Age of death	84879	MFSD2A	OMIM:616486
HP:0011420	Age of death	11222	MRPL3	OMIM:614582
HP:0011420	Age of death	1182	CLCN3	OMIM:619517
HP:0011420	Age of death	5828	PEX2	OMIM:614867
HP:0011420	Age of death	8021	NUP214	OMIM:618426
HP:0011420	Age of death	538	ATP7A	OMIM:309400
HP:0011420	Age of death	90624	LYRM7	OMIM:615838
HP:0011420	Age of death	79751	SLC25A22	OMIM:609304
HP:0011420	Age of death	84992	PIGY	OMIM:616809
HP:0011420	Age of death	51360	MBTPS2	OMIM:308205
HP:0011420	Age of death	2571	GAD1	OMIM:619124
HP:0011420	Age of death	8567	MADD	OMIM:619004
HP:0011420	Age of death	8567	MADD	OMIM:619005
HP:0011420	Age of death	374354	NHLRC2	OMIM:618278
HP:0011420	Age of death	128240	NAXE	OMIM:617186
HP:0011420	Age of death	10651	MTX2	OMIM:619127
HP:0011420	Age of death	57169	ZNFX1	OMIM:619644
HP:0011420	Age of death	60528	ELAC2	OMIM:615440
HP:0011420	Age of death	84340	GFM2	OMIM:618397
HP:0011420	Age of death	5788	PTPRC	OMIM:619924
HP:0011420	Age of death	440138	ALG11	OMIM:613661
HP:0011420	Age of death	28976	ACAD9	OMIM:611126
HP:0011420	Age of death	57038	RARS2	OMIM:611523
HP:0011420	Age of death	917	CD3G	OMIM:615607
HP:0011420	Age of death	57158	JPH2	OMIM:619492
HP:0011420	Age of death	4351	MPI	OMIM:602579
HP:0011420	Age of death	9342	SNAP29	OMIM:609528
HP:0011420	Age of death	10577	NPC2	OMIM:607625
HP:0011420	Age of death	5873	RAB27A	OMIM:607624
HP:0011420	Age of death	10084	PQBP1	OMIM:309500
HP:0011420	Age of death	55739	NAXD	OMIM:618321
HP:0011420	Age of death	5331	PLCB3	OMIM:618961
HP:0011420	Age of death	6324	SCN1B	OMIM:617350
HP:0011420	Age of death	4938	OAS1	OMIM:618042
HP:0011420	Age of death	26503	SLC17A5	OMIM:269920
HP:0011420	Age of death	9197	SLC33A1	OMIM:614482
HP:0011420	Age of death	6603	SMARCD2	OMIM:617475
HP:0011420	Age of death	79147	FKRP	OMIM:613153
HP:0011420	Age of death	111	ADCY5	OMIM:619651
HP:0011420	Age of death	84833	ATP5MK	OMIM:618683
HP:0011420	Age of death	27040	LAT	OMIM:617514
HP:0011420	Age of death	729920	CRPPA	OMIM:614643
HP:0011420	Age of death	29960	MRM2	OMIM:618567
HP:0011420	Age of death	55005	RMND1	OMIM:614922
HP:0011420	Age of death	283989	TSEN54	OMIM:277470
HP:0011420	Age of death	84153	RNASEH2C	OMIM:610329
HP:0011420	Age of death	5631	PRPS1	OMIM:300661
HP:0011420	Age of death	3909	LAMA3	OMIM:619784
HP:0011420	Age of death	57505	AARS2	OMIM:614096
HP:0011420	Age of death	3735	KARS1	OMIM:619147
HP:0011420	Age of death	10533	ATG7	OMIM:619422
HP:0011420	Age of death	56947	MFF	OMIM:617086
HP:0011420	Age of death	205327	C2orf69	OMIM:619423
HP:0011420	Age of death	18	ABAT	OMIM:613163
HP:0011420	Age of death	133686	NADK2	OMIM:616034
HP:0011420	Age of death	51025	PAM16	OMIM:613320
HP:0011420	Age of death	10535	RNASEH2A	OMIM:610333
HP:0011420	Age of death	871	SERPINH1	OMIM:613848
HP:0011420	Age of death	3930	LBR	OMIM:215140
HP:0011420	Age of death	8200	GDF5	OMIM:200700
HP:0011420	Age of death	9321	TRIP11	OMIM:200600
HP:0011420	Age of death	1836	SLC26A2	OMIM:600972
HP:0011420	Age of death	1836	SLC26A2	OMIM:256050
HP:0011420	Age of death	3572	IL6ST	OMIM:619751
HP:0011420	Age of death	1280	COL2A1	OMIM:151210
HP:0011420	Age of death	1280	COL2A1	OMIM:200610
HP:0011420	Age of death	4593	MUSK	OMIM:208150
HP:0011420	Age of death	153241	CEP120	OMIM:616300
HP:0011420	Age of death	2629	GBA1	ORPHA:85212
HP:0011420	Age of death	50814	NSDHL	OMIM:308050
HP:0011420	Age of death	284086	NEK8	OMIM:615415
HP:0011420	Age of death	1063	CENPF	OMIM:243605
HP:0011420	Age of death	55165	CEP55	OMIM:236500
HP:0011420	Age of death	219844	HYLS1	OMIM:236680
HP:0011420	Age of death	5745	PTH1R	OMIM:215045
HP:0011420	Age of death	2317	FLNB	OMIM:108720
HP:0011420	Age of death	5447	POR	ORPHA:95699
HP:0011420	Age of death	28962	OSTM1	OMIM:259720
HP:0011420	Age of death	157570	ESCO2	OMIM:268300
HP:0011420	Age of death	10203	CALCRL	OMIM:618773
HP:0011420	Age of death	249	ALPL	OMIM:241500
HP:0011420	Age of death	5307	PITX1	OMIM:119800
HP:0011420	Age of death	1301	COL11A1	OMIM:228520
HP:0011420	Age of death	23426	GRIP1	OMIM:617667
HP:0011420	Age of death	2316	FLNA	OMIM:309350
HP:0011420	Age of death	2316	FLNA	OMIM:304120
HP:0011420	Age of death	163175	LGI4	OMIM:617468
HP:0011420	Age of death	23169	SLC35D1	OMIM:269250
HP:0011420	Age of death	26227	PHGDH	OMIM:256520
HP:0011420	Age of death	4352	MPL	ORPHA:71493
HP:0011420	Age of death	7066	THPO	ORPHA:71493
HP:0011420	Age of death	3717	JAK2	ORPHA:71493
HP:0011420	Age of death	2215	FCGR3B	ORPHA:464370
HP:0011420	Age of death	2022	ENG	OMIM:187300
HP:0011420	Age of death	199713	NLRP7	OMIM:231090
HP:0011420	Age of death	5889	RAD51C	OMIM:613390
HP:0011420	Age of death	4256	MGP	OMIM:245150
HP:0011420	Age of death	283677	REC114	OMIM:619176
HP:0011420	Age of death	7468	NSD2	OMIM:619695
HP:0011420	Age of death	3043	HBB	ORPHA:2133
HP:0011420	Age of death	5346	PLIN1	OMIM:613877
HP:0011420	Age of death	462	SERPINC1	ORPHA:82
HP:0011420	Age of death	2055	CLN8	ORPHA:1947
HP:0011420	Age of death	7486	WRN	ORPHA:902
HP:0011420	Age of death	274	BIN1	ORPHA:169189
HP:0011420	Age of death	64419	MTMR14	ORPHA:169189
HP:0011420	Age of death	4618	MYF6	ORPHA:169189
HP:0011420	Age of death	1785	DNM2	ORPHA:169189
HP:0011420	Age of death	6261	RYR1	ORPHA:169189
HP:0011420	Age of death	3209	HOXA13	ORPHA:2438
HP:0011420	Age of death	3339	HSPG2	ORPHA:1865
HP:0011420	Age of death	2243	FGA	ORPHA:98880
HP:0011420	Age of death	2244	FGB	ORPHA:98880
HP:0011420	Age of death	2266	FGG	ORPHA:98880
HP:0011420	Age of death	5054	SERPINE1	ORPHA:465
HP:0011420	Age of death	213	ALB	ORPHA:86816
HP:0011420	Age of death	388015	RTL1	ORPHA:96334
HP:0011420	Age of death	8788	DLK1	ORPHA:96334
HP:0011420	Age of death	55384	MEG3	ORPHA:96334
HP:0011420	Age of death	6005	RHAG	ORPHA:71275
HP:0011420	Age of death	6006	RHCE	ORPHA:71275
HP:0011420	Age of death	6007	RHD	ORPHA:71275
HP:0011420	Age of death	1351	COX8A	OMIM:619059
HP:0011420	Age of death	149371	EXOC8	OMIM:619076
HP:0011420	Age of death	7167	TPI1	OMIM:615512
HP:0011420	Age of death	10892	MALT1	OMIM:615468
HP:0011420	Age of death	2273	FHL1	OMIM:300717
HP:0011420	Age of death	88	ACTN2	OMIM:612158
HP:0011420	Age of death	6304	SATB1	OMIM:619229
HP:0011420	Age of death	29969	MDFIC	OMIM:620014
HP:0011420	Age of death	5696	PSMB8	OMIM:256040
HP:0011420	Age of death	2072	ERCC4	OMIM:610965
HP:0011420	Age of death	50964	SOST	OMIM:122860
HP:0011420	Age of death	4624	MYH6	OMIM:613251
HP:0011420	Age of death	7137	TNNI3	OMIM:613286
HP:0011420	Age of death	4927	NUP88	OMIM:618393
HP:0011420	Age of death	60	ACTB	ORPHA:79107
HP:0011420	Age of death	4072	EPCAM	ORPHA:144
HP:0011420	Age of death	4292	MLH1	ORPHA:144
HP:0011420	Age of death	5395	PMS2	ORPHA:144
HP:0011420	Age of death	27030	MLH3	ORPHA:144
HP:0011420	Age of death	22909	FAN1	ORPHA:144
HP:0011420	Age of death	7048	TGFBR2	ORPHA:144
HP:0011420	Age of death	3845	KRAS	ORPHA:144
HP:0011420	Age of death	5290	PIK3CA	ORPHA:144
HP:0011420	Age of death	2956	MSH6	ORPHA:144
HP:0011420	Age of death	5378	PMS1	ORPHA:144
HP:0011420	Age of death	4436	MSH2	ORPHA:144
HP:0011420	Age of death	27183	VPS4A	OMIM:619273
HP:0011420	Age of death	1832	DSP	OMIM:605676
HP:0011420	Age of death	6329	SCN4A	ORPHA:682
HP:0011420	Age of death	10269	ZMPSTE24	OMIM:608612
HP:0011420	Age of death	6197	RPS6KA3	ORPHA:192
HP:0011420	Age of death	3918	LAMC2	OMIM:619786
HP:0011420	Age of death	351	APP	ORPHA:100006
HP:0011420	Age of death	10479	SLC9A6	ORPHA:85278
HP:0011420	Age of death	1471	CST3	ORPHA:100008
HP:0011420	Age of death	6804	STX1A	ORPHA:904
HP:0011420	Age of death	7461	CLIP2	ORPHA:904
HP:0011420	Age of death	84277	DNAJC30	ORPHA:904
HP:0011420	Age of death	8468	FKBP6	ORPHA:904
HP:0011420	Age of death	5982	RFC2	ORPHA:904
HP:0011420	Age of death	2969	GTF2I	ORPHA:904
HP:0011420	Age of death	3984	LIMK1	ORPHA:904
HP:0011420	Age of death	9569	GTF2IRD1	ORPHA:904
HP:0011420	Age of death	155382	VPS37D	ORPHA:904
HP:0011420	Age of death	155368	METTL27	ORPHA:904
HP:0011420	Age of death	114049	BUD23	ORPHA:904
HP:0011420	Age of death	7458	EIF4H	ORPHA:904
HP:0011420	Age of death	84163	GTF2IRD2	ORPHA:904
HP:0011420	Age of death	9275	BCL7B	ORPHA:904
HP:0011420	Age of death	26608	TBL2	ORPHA:904
HP:0011420	Age of death	653361	NCF1	ORPHA:904
HP:0011420	Age of death	135886	TMEM270	ORPHA:904
HP:0011420	Age of death	51085	MLXIPL	ORPHA:904
HP:0011420	Age of death	9031	BAZ1B	ORPHA:904
HP:0011420	Age of death	2006	ELN	ORPHA:904
HP:0011420	Age of death	4625	MYH7	OMIM:255160
HP:0011420	Age of death	1890	TYMP	OMIM:603041
HP:0011420	Age of death	5428	POLG	OMIM:603041
HP:0011420	Age of death	617	BCS1L	ORPHA:53693
HP:0011420	Age of death	55703	POLR3B	OMIM:607694
HP:0011420	Age of death	11128	POLR3A	OMIM:607694
HP:0011424	Increased serum zinc	9056	SLC7A7	ORPHA:470
HP:0011423	Hyperchloremia	65266	WNK4	OMIM:614491
HP:0011423	Hyperchloremia	65125	WNK1	OMIM:614492
HP:0011423	Hyperchloremia	26249	KLHL3	OMIM:614495
HP:0011423	Hyperchloremia	8452	CUL3	OMIM:614496
HP:0011422	Abnormal blood chloride concentration	10916	MAGED2	OMIM:300971
HP:0011422	Abnormal blood chloride concentration	6557	SLC12A1	OMIM:601678
HP:0011422	Abnormal blood chloride concentration	7809	BSND	ORPHA:89938
HP:0011422	Abnormal blood chloride concentration	7809	BSND	OMIM:602522
HP:0011422	Abnormal blood chloride concentration	1188	CLCNKB	ORPHA:89938
HP:0011422	Abnormal blood chloride concentration	1188	CLCNKB	OMIM:613090
HP:0011422	Abnormal blood chloride concentration	1187	CLCNKA	ORPHA:89938
HP:0011422	Abnormal blood chloride concentration	1187	CLCNKA	OMIM:613090
HP:0011422	Abnormal blood chloride concentration	1811	SLC26A3	OMIM:214700
HP:0011422	Abnormal blood chloride concentration	3758	KCNJ1	OMIM:241200
HP:0011422	Abnormal blood chloride concentration	65266	WNK4	OMIM:614491
HP:0011422	Abnormal blood chloride concentration	65125	WNK1	OMIM:614492
HP:0011422	Abnormal blood chloride concentration	26249	KLHL3	OMIM:614495
HP:0011422	Abnormal blood chloride concentration	8452	CUL3	OMIM:614496
HP:0011421	Death in adolescence	1832	DSP	OMIM:605676
HP:0011421	Death in adolescence	2243	FGA	OMIM:202400
HP:0011421	Death in adolescence	2244	FGB	OMIM:202400
HP:0011421	Death in adolescence	2266	FGG	OMIM:202400
HP:0011421	Death in adolescence	3572	IL6ST	OMIM:619751
HP:0011421	Death in adolescence	1351	COX8A	OMIM:619059
HP:0011421	Death in adolescence	8567	MADD	OMIM:619004
HP:0011421	Death in adolescence	149371	EXOC8	OMIM:619076
HP:0011421	Death in adolescence	4938	OAS1	OMIM:618042
HP:0011421	Death in adolescence	84879	MFSD2A	OMIM:616486
HP:0011421	Death in adolescence	100131801	PET100	OMIM:619055
HP:0011421	Death in adolescence	7167	TPI1	OMIM:615512
HP:0011421	Death in adolescence	10892	MALT1	OMIM:615468
HP:0011421	Death in adolescence	2670	GFAP	OMIM:203450
HP:0011421	Death in adolescence	2273	FHL1	OMIM:300717
HP:0011421	Death in adolescence	5828	PEX2	OMIM:614866
HP:0011421	Death in adolescence	88	ACTN2	OMIM:612158
HP:0011421	Death in adolescence	6304	SATB1	OMIM:619229
HP:0011421	Death in adolescence	29969	MDFIC	OMIM:620014
HP:0011421	Death in adolescence	5696	PSMB8	OMIM:256040
HP:0011421	Death in adolescence	79751	SLC25A22	OMIM:609304
HP:0011421	Death in adolescence	2072	ERCC4	OMIM:610965
HP:0011421	Death in adolescence	50964	SOST	OMIM:122860
HP:0011425	Fetal ultrasound soft marker	10682	EBP	ORPHA:401973
HP:0011425	Fetal ultrasound soft marker	10128	LRPPRC	OMIM:220111
HP:0011425	Fetal ultrasound soft marker	2294	FOXF1	OMIM:265380
HP:0011425	Fetal ultrasound soft marker	3190	HNRNPK	OMIM:616580
HP:0011425	Fetal ultrasound soft marker	84231	TRAF7	OMIM:618164
HP:0011425	Fetal ultrasound soft marker	1947	EFNB1	ORPHA:1520
HP:0011425	Fetal ultrasound soft marker	100151683	RNU4ATAC	ORPHA:2636
HP:0011425	Fetal ultrasound soft marker	23556	PIGN	ORPHA:2059
HP:0011425	Fetal ultrasound soft marker	7355	SLC35A2	ORPHA:356961
HP:0011425	Fetal ultrasound soft marker	1836	SLC26A2	ORPHA:93298
HP:0011425	Fetal ultrasound soft marker	22800	RRAS2	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	867	CBL	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	8216	LZTR1	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	6016	RIT1	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	6237	RRAS	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	5894	RAF1	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	22808	MRAS	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	3845	KRAS	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	200734	SPRED2	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	4893	NRAS	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	6654	SOS1	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	6655	SOS2	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	5781	PTPN11	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	5922	RASA2	ORPHA:648
HP:0011425	Fetal ultrasound soft marker	9321	TRIP11	ORPHA:93299
HP:0011425	Fetal ultrasound soft marker	526	ATP6V1B2	ORPHA:79500
HP:0011425	Fetal ultrasound soft marker	57465	TBC1D24	ORPHA:79500
HP:0011425	Fetal ultrasound soft marker	57465	TBC1D24	OMIM:220500
HP:0011425	Fetal ultrasound soft marker	79796	ALG9	ORPHA:79328
HP:0011425	Fetal ultrasound soft marker	79796	ALG9	OMIM:263210
HP:0011425	Fetal ultrasound soft marker	3265	HRAS	ORPHA:3071
HP:0011425	Fetal ultrasound soft marker	29968	PSAT1	ORPHA:284417
HP:0011425	Fetal ultrasound soft marker	2623	GATA1	OMIM:190685
HP:0011425	Fetal ultrasound soft marker	25978	CHMP2B	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	25978	CHMP2B	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	5663	PSEN1	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	5663	PSEN1	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	2896	GRN	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	2896	GRN	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	54664	TMEM106B	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	54664	TMEM106B	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	8878	SQSTM1	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	4137	MAPT	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	4137	MAPT	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	54209	TREM2	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	54209	TREM2	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	7415	VCP	ORPHA:275864
HP:0011425	Fetal ultrasound soft marker	7415	VCP	ORPHA:100070
HP:0011425	Fetal ultrasound soft marker	5167	ENPP1	ORPHA:758
HP:0011425	Fetal ultrasound soft marker	368	ABCC6	ORPHA:758
HP:0011425	Fetal ultrasound soft marker	55670	PEX26	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5824	PEX19	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5828	PEX2	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	8504	PEX3	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	8799	PEX11B	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	9409	PEX16	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5190	PEX6	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5830	PEX5	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5189	PEX1	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5193	PEX12	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5194	PEX13	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5195	PEX14	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	5192	PEX10	ORPHA:912
HP:0011425	Fetal ultrasound soft marker	3911	LAMA5	OMIM:620076
HP:0011425	Fetal ultrasound soft marker	7490	WT1	OMIM:608978
HP:0011425	Fetal ultrasound soft marker	5447	POR	OMIM:201750
HP:0011425	Fetal ultrasound soft marker	5977	DPF2	OMIM:618027
HP:0011425	Fetal ultrasound soft marker	2187	FANCB	OMIM:300514
HP:0011425	Fetal ultrasound soft marker	2187	FANCB	ORPHA:3412
HP:0011425	Fetal ultrasound soft marker	2627	GATA6	ORPHA:2255
HP:0011425	Fetal ultrasound soft marker	2627	GATA6	OMIM:600001
HP:0011425	Fetal ultrasound soft marker	374879	ZNF699	OMIM:619488
HP:0011425	Fetal ultrasound soft marker	91179	SCARF2	OMIM:600920
HP:0011425	Fetal ultrasound soft marker	117581	TWIST2	OMIM:200110
HP:0011425	Fetal ultrasound soft marker	54870	QRICH1	OMIM:617982
HP:0011425	Fetal ultrasound soft marker	202018	TAPT1	OMIM:616897
HP:0011425	Fetal ultrasound soft marker	55784	MCTP2	ORPHA:1596
HP:0011425	Fetal ultrasound soft marker	55690	PACS1	OMIM:615009
HP:0011425	Fetal ultrasound soft marker	55690	PACS1	ORPHA:329224
HP:0011425	Fetal ultrasound soft marker	4625	MYH7	OMIM:613426
HP:0011425	Fetal ultrasound soft marker	2188	FANCF	OMIM:603467
HP:0011425	Fetal ultrasound soft marker	9897	WASHC5	OMIM:220210
HP:0011425	Fetal ultrasound soft marker	9897	WASHC5	ORPHA:7
HP:0011425	Fetal ultrasound soft marker	775	CACNA1C	OMIM:601005
HP:0011425	Fetal ultrasound soft marker	84992	PIGY	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	84720	PIGO	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	93210	PGAP3	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	284098	PIGW	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	27315	PGAP2	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	55650	PIGV	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	9487	PIGL	ORPHA:247262
HP:0011425	Fetal ultrasound soft marker	3339	HSPG2	OMIM:224410
HP:0011425	Fetal ultrasound soft marker	3339	HSPG2	ORPHA:1865
HP:0011425	Fetal ultrasound soft marker	10463	SLC30A9	OMIM:617595
HP:0011425	Fetal ultrasound soft marker	10274	STAG1	OMIM:617635
HP:0011425	Fetal ultrasound soft marker	55901	THSD1	OMIM:620244
HP:0011425	Fetal ultrasound soft marker	7473	WNT3	OMIM:273395
HP:0011425	Fetal ultrasound soft marker	3239	HOXD13	ORPHA:887
HP:0011425	Fetal ultrasound soft marker	28952	CCDC22	ORPHA:7
HP:0011425	Fetal ultrasound soft marker	11011	TLK2	OMIM:618050
HP:0011425	Fetal ultrasound soft marker	1656	DDX6	OMIM:618653
HP:0011425	Fetal ultrasound soft marker	54903	MKS1	OMIM:249000
HP:0011425	Fetal ultrasound soft marker	23384	SPECC1L	OMIM:145420
HP:0011425	Fetal ultrasound soft marker	2783	GNB2	OMIM:619503
HP:0011425	Fetal ultrasound soft marker	5062	PAK2	OMIM:618458
HP:0011425	Fetal ultrasound soft marker	79633	FAT4	OMIM:615546
HP:0011425	Fetal ultrasound soft marker	5879	RAC1	OMIM:617751
HP:0011425	Fetal ultrasound soft marker	3930	LBR	OMIM:215140
HP:0011425	Fetal ultrasound soft marker	8085	KMT2D	OMIM:620186
HP:0011425	Fetal ultrasound soft marker	2258	FGF13	OMIM:301058
HP:0011425	Fetal ultrasound soft marker	284058	KANSL1	ORPHA:363965
HP:0011425	Fetal ultrasound soft marker	284058	KANSL1	ORPHA:363958
HP:0011425	Fetal ultrasound soft marker	9578	CDC42BPB	OMIM:619841
HP:0011425	Fetal ultrasound soft marker	1182	CLCN3	OMIM:619512
HP:0011425	Fetal ultrasound soft marker	5297	PI4KA	OMIM:616531
HP:0011425	Fetal ultrasound soft marker	10398	MYL9	OMIM:619365
HP:0011425	Fetal ultrasound soft marker	93627	TBCK	OMIM:616900
HP:0011425	Fetal ultrasound soft marker	10472	ZBTB18	OMIM:612337
HP:0011425	Fetal ultrasound soft marker	54796	BNC2	ORPHA:93110
HP:0011425	Fetal ultrasound soft marker	55252	ASXL2	OMIM:617190
HP:0011425	Fetal ultrasound soft marker	51021	MRPS16	OMIM:610498
HP:0011425	Fetal ultrasound soft marker	56896	DPYSL5	OMIM:619435
HP:0011425	Fetal ultrasound soft marker	100128927	ZBTB42	OMIM:616248
HP:0011425	Fetal ultrasound soft marker	4927	NUP88	OMIM:618393
HP:0011425	Fetal ultrasound soft marker	57211	ADGRG6	OMIM:616503
HP:0011425	Fetal ultrasound soft marker	7547	ZIC3	OMIM:314390
HP:0011425	Fetal ultrasound soft marker	26153	KIF26A	OMIM:620156
HP:0011425	Fetal ultrasound soft marker	2271	FH	OMIM:606812
HP:0011425	Fetal ultrasound soft marker	5277	PIGA	OMIM:300868
HP:0001211	Abnormal fingertip morphology	5745	PTH1R	ORPHA:79106
HP:0001211	Abnormal fingertip morphology	3909	LAMA3	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	3918	LAMC2	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	3914	LAMB3	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001211	Abnormal fingertip morphology	8367	H4C5	OMIM:619950
HP:0001211	Abnormal fingertip morphology	10664	CTCF	ORPHA:363611
HP:0001211	Abnormal fingertip morphology	8260	NAA10	OMIM:309800
HP:0001211	Abnormal fingertip morphology	54880	BCOR	OMIM:309800
HP:0001211	Abnormal fingertip morphology	9853	RUSC2	OMIM:617773
HP:0001211	Abnormal fingertip morphology	5063	PAK3	OMIM:300558
HP:0001211	Abnormal fingertip morphology	1387	CREBBP	OMIM:180849
HP:0001211	Abnormal fingertip morphology	2033	EP300	OMIM:180849
HP:0001211	Abnormal fingertip morphology	2033	EP300	OMIM:613684
HP:0001211	Abnormal fingertip morphology	23394	ADNP	OMIM:615873
HP:0001211	Abnormal fingertip morphology	6228	RPS23	OMIM:617412
HP:0001211	Abnormal fingertip morphology	55628	ZNF407	OMIM:619557
HP:0001211	Abnormal fingertip morphology	91461	PKDCC	OMIM:618821
HP:0001211	Abnormal fingertip morphology	11133	KPTN	OMIM:615637
HP:0001211	Abnormal fingertip morphology	79718	TBL1XR1	OMIM:602342
HP:0001211	Abnormal fingertip morphology	79718	TBL1XR1	ORPHA:487825
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	ORPHA:363965
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	ORPHA:363958
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	OMIM:610443
HP:0001211	Abnormal fingertip morphology	116931	MED12L	OMIM:618872
HP:0001211	Abnormal fingertip morphology	27086	FOXP1	ORPHA:391372
HP:0001211	Abnormal fingertip morphology	3021	H3-3B	OMIM:619721
HP:0001211	Abnormal fingertip morphology	28952	CCDC22	OMIM:300963
HP:0001211	Abnormal fingertip morphology	7025	NR2F1	OMIM:615722
HP:0001211	Abnormal fingertip morphology	9968	MED12	OMIM:305450
HP:0001211	Abnormal fingertip morphology	6925	TCF4	OMIM:610954
HP:0001211	Abnormal fingertip morphology	23065	EMC1	ORPHA:480898
HP:0001211	Abnormal fingertip morphology	23065	EMC1	OMIM:616875
HP:0001211	Abnormal fingertip morphology	4131	MAP1B	OMIM:618918
HP:0001211	Abnormal fingertip morphology	4784	NFIX	OMIM:602535
HP:0001211	Abnormal fingertip morphology	57492	ARID1B	OMIM:135900
HP:0001211	Abnormal fingertip morphology	57479	PRR12	OMIM:619539
HP:0001211	Abnormal fingertip morphology	64359	NXN	OMIM:618529
HP:0001211	Abnormal fingertip morphology	2146	EZH2	OMIM:277590
HP:0001211	Abnormal fingertip morphology	51322	WAC	ORPHA:466950
HP:0001211	Abnormal fingertip morphology	1105	CHD1	OMIM:617682
HP:0001211	Abnormal fingertip morphology	1822	ATN1	OMIM:618494
HP:0001211	Abnormal fingertip morphology	7403	KDM6A	OMIM:300867
HP:0001211	Abnormal fingertip morphology	7403	KDM6A	OMIM:147920
HP:0001211	Abnormal fingertip morphology	23036	ZNF292	OMIM:619188
HP:0001211	Abnormal fingertip morphology	3188	HNRNPH2	OMIM:300986
HP:0001211	Abnormal fingertip morphology	2702	GJA5	OMIM:612474
HP:0001211	Abnormal fingertip morphology	2703	GJA8	OMIM:612474
HP:0001211	Abnormal fingertip morphology	22907	DHX30	OMIM:617804
HP:0001211	Abnormal fingertip morphology	10522	DEAF1	OMIM:615828
HP:0001211	Abnormal fingertip morphology	3720	JARID2	OMIM:620098
HP:0001211	Abnormal fingertip morphology	8085	KMT2D	OMIM:147920
HP:0001211	Abnormal fingertip morphology	10847	SRCAP	ORPHA:2044
HP:0001211	Abnormal fingertip morphology	10847	SRCAP	OMIM:136140
HP:0001211	Abnormal fingertip morphology	25782	RAB3GAP2	OMIM:212720
HP:0001211	Abnormal fingertip morphology	3187	HNRNPH1	OMIM:620083
HP:0001211	Abnormal fingertip morphology	2212	FCGR2A	OMIM:219700
HP:0001211	Abnormal fingertip morphology	7040	TGFB1	OMIM:219700
HP:0001211	Abnormal fingertip morphology	1080	CFTR	OMIM:219700
HP:0001211	Abnormal fingertip morphology	3071	NCKAP1L	OMIM:618982
HP:0001211	Abnormal fingertip morphology	114548	NLRP3	OMIM:191900
HP:0001211	Abnormal fingertip morphology	182	JAG1	OMIM:619574
HP:0001211	Abnormal fingertip morphology	7015	TERT	OMIM:614742
HP:0001211	Abnormal fingertip morphology	7015	TERT	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	7015	TERT	OMIM:178500
HP:0001211	Abnormal fingertip morphology	6794	STK11	OMIM:175200
HP:0001211	Abnormal fingertip morphology	987	LRBA	OMIM:614700
HP:0001211	Abnormal fingertip morphology	6578	SLCO2A1	OMIM:167100
HP:0001211	Abnormal fingertip morphology	6440	SFTPC	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	6440	SFTPC	OMIM:178500
HP:0001211	Abnormal fingertip morphology	729238	SFTPA2	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	729238	SFTPA2	OMIM:178500
HP:0001211	Abnormal fingertip morphology	79991	STN1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	653509	SFTPA1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	21	ABCA3	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	1832	DSP	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	1832	DSP	OMIM:605676
HP:0001211	Abnormal fingertip morphology	727897	MUC5B	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	727897	MUC5B	OMIM:178500
HP:0001211	Abnormal fingertip morphology	10144	FAM13A	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	23250	ATP11A	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	91039	DPP9	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	51750	RTEL1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	7012	TERC	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	5073	PARN	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	3339	HSPG2	ORPHA:1865
HP:0001211	Abnormal fingertip morphology	10804	GJB6	ORPHA:189
HP:0001211	Abnormal fingertip morphology	440275	EIF2AK4	ORPHA:199241
HP:0001211	Abnormal fingertip morphology	1604	CD55	OMIM:226300
HP:0001211	Abnormal fingertip morphology	10568	SLC34A2	ORPHA:60025
HP:0001211	Abnormal fingertip morphology	8884	SLC5A6	OMIM:618973
HP:0001211	Abnormal fingertip morphology	10125	RASGRP1	OMIM:618534
HP:0001211	Abnormal fingertip morphology	3248	HPGD	ORPHA:217059
HP:0001211	Abnormal fingertip morphology	59067	IL21	OMIM:615767
HP:0001211	Abnormal fingertip morphology	5728	PTEN	ORPHA:79076
HP:0001211	Abnormal fingertip morphology	657	BMPR1A	ORPHA:79076
HP:0001211	Abnormal fingertip morphology	5696	PSMB8	OMIM:256040
HP:0001211	Abnormal fingertip morphology	27152	INTU	OMIM:617926
HP:0001211	Abnormal fingertip morphology	7092	TLL1	ORPHA:99106
HP:0100960	Lateral ventricular asymmetry	2200	FBN1	OMIM:616914
HP:0100962	Shyness	10717	AP4B1	ORPHA:280763
HP:0100962	Shyness	10717	AP4B1	OMIM:614066
HP:0100962	Shyness	9179	AP4M1	ORPHA:280763
HP:0100962	Shyness	11154	AP4S1	ORPHA:280763
HP:0100962	Shyness	11154	AP4S1	OMIM:614067
HP:0100962	Shyness	23431	AP4E1	ORPHA:280763
HP:0100962	Shyness	23431	AP4E1	OMIM:613744
HP:0100962	Shyness	5422	POLA1	OMIM:301030
HP:0100962	Shyness	4841	NONO	ORPHA:466791
HP:0100962	Shyness	51132	RLIM	OMIM:300978
HP:0100962	Shyness	2332	FMR1	ORPHA:449291
HP:0100962	Shyness	1806	DPYD	ORPHA:293948
HP:0100962	Shyness	57102	C12orf4	OMIM:618221
HP:0100962	Shyness	29072	SETD2	OMIM:616831
HP:0100963	Hyperesthesia	4914	NTRK1	ORPHA:642
HP:0100963	Hyperesthesia	51062	ATL1	ORPHA:100984
HP:0100963	Hyperesthesia	1277	COL1A1	ORPHA:1310
HP:0100963	Hyperesthesia	259232	NALCN	ORPHA:371364
HP:0100963	Hyperesthesia	285175	UNC80	ORPHA:371364
HP:0100963	Hyperesthesia	4771	NF2	ORPHA:637
HP:0100963	Hyperesthesia	2581	GALC	ORPHA:206436
HP:0100963	Hyperesthesia	5660	PSAP	ORPHA:206436
HP:0100963	Hyperesthesia	3265	HRAS	ORPHA:2874
HP:0001212	Prominent fingertip pads	8367	H4C5	OMIM:619950
HP:0001212	Prominent fingertip pads	10664	CTCF	ORPHA:363611
HP:0001212	Prominent fingertip pads	8260	NAA10	OMIM:309800
HP:0001212	Prominent fingertip pads	54880	BCOR	OMIM:309800
HP:0001212	Prominent fingertip pads	9853	RUSC2	OMIM:617773
HP:0001212	Prominent fingertip pads	5063	PAK3	OMIM:300558
HP:0001212	Prominent fingertip pads	1387	CREBBP	OMIM:180849
HP:0001212	Prominent fingertip pads	2033	EP300	OMIM:180849
HP:0001212	Prominent fingertip pads	2033	EP300	OMIM:613684
HP:0001212	Prominent fingertip pads	23394	ADNP	OMIM:615873
HP:0001212	Prominent fingertip pads	6228	RPS23	OMIM:617412
HP:0001212	Prominent fingertip pads	55628	ZNF407	OMIM:619557
HP:0001212	Prominent fingertip pads	91461	PKDCC	OMIM:618821
HP:0001212	Prominent fingertip pads	11133	KPTN	OMIM:615637
HP:0001212	Prominent fingertip pads	79718	TBL1XR1	OMIM:602342
HP:0001212	Prominent fingertip pads	79718	TBL1XR1	ORPHA:487825
HP:0001212	Prominent fingertip pads	284058	KANSL1	ORPHA:363965
HP:0001212	Prominent fingertip pads	284058	KANSL1	ORPHA:363958
HP:0001212	Prominent fingertip pads	284058	KANSL1	OMIM:610443
HP:0001212	Prominent fingertip pads	116931	MED12L	OMIM:618872
HP:0001212	Prominent fingertip pads	27086	FOXP1	ORPHA:391372
HP:0001212	Prominent fingertip pads	3021	H3-3B	OMIM:619721
HP:0001212	Prominent fingertip pads	28952	CCDC22	OMIM:300963
HP:0001212	Prominent fingertip pads	7025	NR2F1	OMIM:615722
HP:0001212	Prominent fingertip pads	9968	MED12	OMIM:305450
HP:0001212	Prominent fingertip pads	6925	TCF4	OMIM:610954
HP:0001212	Prominent fingertip pads	23065	EMC1	ORPHA:480898
HP:0001212	Prominent fingertip pads	23065	EMC1	OMIM:616875
HP:0001212	Prominent fingertip pads	4131	MAP1B	OMIM:618918
HP:0001212	Prominent fingertip pads	4784	NFIX	OMIM:602535
HP:0001212	Prominent fingertip pads	57492	ARID1B	OMIM:135900
HP:0001212	Prominent fingertip pads	57479	PRR12	OMIM:619539
HP:0001212	Prominent fingertip pads	64359	NXN	OMIM:618529
HP:0001212	Prominent fingertip pads	2146	EZH2	OMIM:277590
HP:0001212	Prominent fingertip pads	51322	WAC	ORPHA:466950
HP:0001212	Prominent fingertip pads	1105	CHD1	OMIM:617682
HP:0001212	Prominent fingertip pads	1822	ATN1	OMIM:618494
HP:0001212	Prominent fingertip pads	7403	KDM6A	OMIM:300867
HP:0001212	Prominent fingertip pads	7403	KDM6A	OMIM:147920
HP:0001212	Prominent fingertip pads	23036	ZNF292	OMIM:619188
HP:0001212	Prominent fingertip pads	3188	HNRNPH2	OMIM:300986
HP:0001212	Prominent fingertip pads	2702	GJA5	OMIM:612474
HP:0001212	Prominent fingertip pads	2703	GJA8	OMIM:612474
HP:0001212	Prominent fingertip pads	22907	DHX30	OMIM:617804
HP:0001212	Prominent fingertip pads	10522	DEAF1	OMIM:615828
HP:0001212	Prominent fingertip pads	3720	JARID2	OMIM:620098
HP:0001212	Prominent fingertip pads	8085	KMT2D	OMIM:147920
HP:0001218	Autoamputation	7879	RAB7A	OMIM:600882
HP:0001218	Autoamputation	57152	SLURP1	ORPHA:87503
HP:0001218	Autoamputation	10558	SPTLC1	OMIM:162400
HP:0001218	Autoamputation	22948	CCT5	OMIM:256840
HP:0001218	Autoamputation	22948	CCT5	ORPHA:139578
HP:0001218	Autoamputation	4803	NGF	OMIM:608654
HP:0001218	Autoamputation	3848	KRT1	ORPHA:79503
HP:0001218	Autoamputation	2706	GJB2	ORPHA:494
HP:0001218	Autoamputation	2706	GJB2	OMIM:124500
HP:0001218	Autoamputation	54463	RETREG1	OMIM:201300
HP:0001218	Autoamputation	54463	RETREG1	OMIM:613115
HP:0001218	Autoamputation	65125	WNK1	OMIM:201300
HP:0001218	Autoamputation	6335	SCN9A	OMIM:201300
HP:0001218	Autoamputation	547	KIF1A	OMIM:201300
HP:0001218	Autoamputation	547	KIF1A	OMIM:614213
HP:0001218	Autoamputation	162514	TRPV3	OMIM:614594
HP:0001218	Autoamputation	7051	TGM1	ORPHA:100976
HP:0001218	Autoamputation	9517	SPTLC2	OMIM:613640
HP:0001218	Autoamputation	26276	VPS33B	OMIM:620009
HP:0001218	Autoamputation	4358	MPV17	OMIM:256810
HP:0001218	Autoamputation	4914	NTRK1	OMIM:256800
HP:0001218	Autoamputation	11277	TREX1	OMIM:610448
HP:0001218	Autoamputation	51062	ATL1	OMIM:613708
HP:0001215	Camptodactyly of 2nd-5th fingers	64093	SMOC1	OMIM:206920
HP:0001215	Camptodactyly of 2nd-5th fingers	64093	SMOC1	ORPHA:1106
HP:0001215	Camptodactyly of 2nd-5th fingers	91179	SCARF2	OMIM:600920
HP:0500193	Increased CSF isoleucine concentration	1738	DLD	OMIM:246900
HP:0500192	Abnormal CSF isoleucine concentration	1738	DLD	OMIM:246900
HP:0500198	Decreased CSF glutamine concentration	2752	GLUL	OMIM:610015
HP:0031825	Freezing of gait	4137	MAPT	ORPHA:240094
HP:0031825	Freezing of gait	4929	NR4A2	OMIM:619911
HP:0001220	Interphalangeal joint contracture of finger	64093	SMOC1	OMIM:206920
HP:0001220	Interphalangeal joint contracture of finger	64093	SMOC1	ORPHA:1106
HP:0001220	Interphalangeal joint contracture of finger	91179	SCARF2	OMIM:600920
HP:0001220	Interphalangeal joint contracture of finger	7317	UBA1	ORPHA:1145
HP:0001220	Interphalangeal joint contracture of finger	3868	KRT16	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	3857	KRT9	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	3848	KRT1	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	2316	FLNA	OMIM:305620
HP:0001220	Interphalangeal joint contracture of finger	2316	FLNA	ORPHA:1826
HP:0001220	Interphalangeal joint contracture of finger	3861	KRT14	ORPHA:69087
HP:0001220	Interphalangeal joint contracture of finger	6885	MAP3K7	ORPHA:1826
HP:0001220	Interphalangeal joint contracture of finger	388015	RTL1	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	8788	DLK1	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	55384	MEG3	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	1303	COL12A1	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	1291	COL6A1	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	1292	COL6A2	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	1293	COL6A3	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	4313	MMP2	OMIM:259600
HP:0001220	Interphalangeal joint contracture of finger	55628	ZNF407	OMIM:619557
HP:0001220	Interphalangeal joint contracture of finger	23219	FBXO28	OMIM:619777
HP:0001220	Interphalangeal joint contracture of finger	84265	POLR3GL	OMIM:619234
HP:0001220	Interphalangeal joint contracture of finger	29072	SETD2	ORPHA:821
HP:0001220	Interphalangeal joint contracture of finger	10297	APC2	ORPHA:821
HP:0001220	Interphalangeal joint contracture of finger	51305	KCNK9	ORPHA:166108
HP:0001220	Interphalangeal joint contracture of finger	22880	MORC2	ORPHA:466768
HP:0001220	Interphalangeal joint contracture of finger	825	CAPN3	ORPHA:267
HP:0001220	Interphalangeal joint contracture of finger	113179	ADAT3	ORPHA:363528
HP:0001220	Interphalangeal joint contracture of finger	7043	TGFB3	OMIM:615582
HP:0001220	Interphalangeal joint contracture of finger	10765	KDM5B	OMIM:618109
HP:0001220	Interphalangeal joint contracture of finger	9487	PIGL	OMIM:280000
HP:0001220	Interphalangeal joint contracture of finger	10093	ARPC4	OMIM:620141
HP:0001220	Interphalangeal joint contracture of finger	25942	SIN3A	OMIM:613406
HP:0001220	Interphalangeal joint contracture of finger	11011	TLK2	OMIM:618050
HP:0001220	Interphalangeal joint contracture of finger	80816	ASXL3	OMIM:615485
HP:0001220	Interphalangeal joint contracture of finger	81857	MED25	ORPHA:464738
HP:0001220	Interphalangeal joint contracture of finger	8243	SMC1A	OMIM:301044
HP:0001220	Interphalangeal joint contracture of finger	1277	COL1A1	OMIM:130060
HP:0001220	Interphalangeal joint contracture of finger	6909	TBX2	OMIM:618223
HP:0001220	Interphalangeal joint contracture of finger	23327	NEDD4L	OMIM:617201
HP:0001220	Interphalangeal joint contracture of finger	8985	PLOD3	OMIM:612394
HP:0001220	Interphalangeal joint contracture of finger	6134	RPL10	OMIM:300998
HP:0001220	Interphalangeal joint contracture of finger	1889	ECE1	OMIM:613870
HP:0001220	Interphalangeal joint contracture of finger	4010	LMX1B	ORPHA:2614
HP:0001220	Interphalangeal joint contracture of finger	6662	SOX9	OMIM:114290
HP:0001220	Interphalangeal joint contracture of finger	4297	KMT2A	OMIM:605130
HP:0001220	Interphalangeal joint contracture of finger	2218	FKTN	ORPHA:272
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:2053
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:2990
HP:0001220	Interphalangeal joint contracture of finger	259232	NALCN	ORPHA:2053
HP:0001220	Interphalangeal joint contracture of finger	259232	NALCN	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	8294	H4C9	OMIM:619951
HP:0001220	Interphalangeal joint contracture of finger	3094	HINT1	ORPHA:324442
HP:0001220	Interphalangeal joint contracture of finger	8838	CCN6	OMIM:208230
HP:0001220	Interphalangeal joint contracture of finger	1947	EFNB1	ORPHA:1520
HP:0001220	Interphalangeal joint contracture of finger	7355	SLC35A2	ORPHA:356961
HP:0001220	Interphalangeal joint contracture of finger	118429	ANTXR2	ORPHA:2176
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	ORPHA:1529
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	ORPHA:896
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	OMIM:148820
HP:0001220	Interphalangeal joint contracture of finger	9241	NOG	ORPHA:3250
HP:0001220	Interphalangeal joint contracture of finger	8200	GDF5	ORPHA:3250
HP:0001220	Interphalangeal joint contracture of finger	54968	TMEM70	ORPHA:1194
HP:0001220	Interphalangeal joint contracture of finger	613	BCR	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	1399	CRKL	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	5594	MAPK1	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	84466	MEGF10	OMIM:614399
HP:0001220	Interphalangeal joint contracture of finger	72	ACTG2	ORPHA:2604
HP:0001220	Interphalangeal joint contracture of finger	10216	PRG4	ORPHA:2848
HP:0001220	Interphalangeal joint contracture of finger	3508	IGHMBP2	OMIM:604320
HP:0001220	Interphalangeal joint contracture of finger	6926	TBX3	ORPHA:3138
HP:0001220	Interphalangeal joint contracture of finger	51360	MBTPS2	ORPHA:2273
HP:0001220	Interphalangeal joint contracture of finger	10381	TUBB3	OMIM:600638
HP:0001220	Interphalangeal joint contracture of finger	9469	CHST3	OMIM:143095
HP:0001220	Interphalangeal joint contracture of finger	3423	IDS	ORPHA:217085
HP:0001220	Interphalangeal joint contracture of finger	3423	IDS	ORPHA:217093
HP:0001220	Interphalangeal joint contracture of finger	64359	NXN	ORPHA:1507
HP:0001220	Interphalangeal joint contracture of finger	4920	ROR2	ORPHA:1507
HP:0001220	Interphalangeal joint contracture of finger	2697	GJA1	ORPHA:2710
HP:0001220	Interphalangeal joint contracture of finger	2697	GJA1	ORPHA:93404
HP:0001220	Interphalangeal joint contracture of finger	64127	NOD2	OMIM:186580
HP:0001220	Interphalangeal joint contracture of finger	64127	NOD2	ORPHA:90340
HP:0001220	Interphalangeal joint contracture of finger	6999	TDO2	OMIM:600627
HP:0001220	Interphalangeal joint contracture of finger	1301	COL11A1	ORPHA:2021
HP:0001220	Interphalangeal joint contracture of finger	1302	COL11A2	ORPHA:2021
HP:0001220	Interphalangeal joint contracture of finger	10716	TBR1	ORPHA:1617
HP:0001220	Interphalangeal joint contracture of finger	3425	IDUA	OMIM:607015
HP:0001220	Interphalangeal joint contracture of finger	3425	IDUA	ORPHA:93473
HP:0001220	Interphalangeal joint contracture of finger	4593	MUSK	OMIM:208150
HP:0001220	Interphalangeal joint contracture of finger	4593	MUSK	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	OMIM:114300
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	ORPHA:376
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	ORPHA:2461
HP:0001220	Interphalangeal joint contracture of finger	56006	SMG9	OMIM:616920
HP:0001220	Interphalangeal joint contracture of finger	1857	DVL3	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	7474	WNT5A	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	1855	DVL1	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	2535	FZD2	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	9508	ADAMTS3	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	147372	CCBE1	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	79633	FAT4	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	5189	PEX1	ORPHA:3220
HP:0001220	Interphalangeal joint contracture of finger	5190	PEX6	ORPHA:3220
HP:0001220	Interphalangeal joint contracture of finger	5590	PRKCZ	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	2563	GABRD	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	23013	SPEN	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	8510	MMP23B	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	7798	LUZP1	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	6497	SKI	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	6497	SKI	ORPHA:2462
HP:0001220	Interphalangeal joint contracture of finger	10630	PDPN	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	3339	HSPG2	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	10277	UBE4B	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	8514	KCNAB2	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	473	RERE	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	63976	PRDM16	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	54897	CASZ1	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	9719	ADAMTSL2	OMIM:231050
HP:0001220	Interphalangeal joint contracture of finger	4952	OCRL	OMIM:309000
HP:0001220	Interphalangeal joint contracture of finger	8517	IKBKG	ORPHA:464
HP:0001220	Interphalangeal joint contracture of finger	10436	EMG1	ORPHA:1270
HP:0001220	Interphalangeal joint contracture of finger	57492	ARID1B	ORPHA:251056
HP:0001220	Interphalangeal joint contracture of finger	11128	POLR3A	ORPHA:3455
HP:0001220	Interphalangeal joint contracture of finger	2239	GPC4	ORPHA:373
HP:0001220	Interphalangeal joint contracture of finger	2719	GPC3	ORPHA:373
HP:0001220	Interphalangeal joint contracture of finger	55612	FERMT1	ORPHA:2908
HP:0001220	Interphalangeal joint contracture of finger	3977	LIFR	ORPHA:3206
HP:0001220	Interphalangeal joint contracture of finger	23483	TGDS	ORPHA:1388
HP:0001220	Interphalangeal joint contracture of finger	2260	FGFR1	OMIM:166250
HP:0001220	Interphalangeal joint contracture of finger	7140	TNNT3	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7169	TPM2	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7136	TNNI2	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7136	TNNI2	OMIM:601680
HP:0001220	Interphalangeal joint contracture of finger	4604	MYBPC1	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	117581	TWIST2	ORPHA:920
HP:0001220	Interphalangeal joint contracture of finger	64324	NSD1	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	8726	EED	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	23512	SUZ12	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	2146	EZH2	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	1723	DHODH	ORPHA:246
HP:0001220	Interphalangeal joint contracture of finger	257	ALX3	ORPHA:391474
HP:0001220	Interphalangeal joint contracture of finger	3239	HOXD13	OMIM:186300
HP:0001220	Interphalangeal joint contracture of finger	3239	HOXD13	ORPHA:93406
HP:0001220	Interphalangeal joint contracture of finger	54903	MKS1	OMIM:249000
HP:0001220	Interphalangeal joint contracture of finger	91252	SLC39A13	OMIM:612350
HP:0001220	Interphalangeal joint contracture of finger	22930	RAB3GAP1	OMIM:619420
HP:0001220	Interphalangeal joint contracture of finger	7046	TGFBR1	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	10526	IPO8	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	7048	TGFBR2	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	3897	L1CAM	ORPHA:2466
HP:0001220	Interphalangeal joint contracture of finger	2245	FGD1	ORPHA:915
HP:0001220	Interphalangeal joint contracture of finger	2200	FBN1	ORPHA:2462
HP:0001220	Interphalangeal joint contracture of finger	2201	FBN2	ORPHA:115
HP:0001220	Interphalangeal joint contracture of finger	7227	TRPS1	ORPHA:77258
HP:0001220	Interphalangeal joint contracture of finger	4088	SMAD3	ORPHA:284984
HP:0001220	Interphalangeal joint contracture of finger	27238	GPKOW	ORPHA:2570
HP:0001220	Interphalangeal joint contracture of finger	10466	COG5	ORPHA:263487
HP:0001220	Interphalangeal joint contracture of finger	55315	SLC29A3	OMIM:602782
HP:0001220	Interphalangeal joint contracture of finger	23102	TBC1D2B	OMIM:619323
HP:0001220	Interphalangeal joint contracture of finger	2068	ERCC2	OMIM:610756
HP:0001220	Interphalangeal joint contracture of finger	2068	ERCC2	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	51114	ZDHHC9	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	65109	UPF3B	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	9968	MED12	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	2067	ERCC1	OMIM:610758
HP:0001220	Interphalangeal joint contracture of finger	2067	ERCC1	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	114548	NLRP3	ORPHA:575
HP:0001220	Interphalangeal joint contracture of finger	2074	ERCC6	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	2073	ERCC5	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	134701	RIPPLY2	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	10683	DLL3	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	3955	LFNG	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	84667	HES7	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	145873	MESP2	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	81620	CDT1	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	5000	ORC4	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	23594	ORC6	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	8318	CDC45	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	990	CDC6	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	4998	ORC1	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	51053	GMNN	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	8260	NAA10	ORPHA:568
HP:0001220	Interphalangeal joint contracture of finger	54880	BCOR	ORPHA:568
HP:0001220	Interphalangeal joint contracture of finger	64327	LMBR1	ORPHA:93405
HP:0001220	Interphalangeal joint contracture of finger	6469	SHH	ORPHA:93405
HP:0001220	Interphalangeal joint contracture of finger	4927	NUP88	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	7846	TUBA1A	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	4654	MYOD1	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	5913	RAPSN	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	6572	SLC18A3	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	285489	DOK7	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	3914	LAMB3	OMIM:226650
HP:0001220	Interphalangeal joint contracture of finger	9150	CTDP1	ORPHA:48431
HP:0001220	Interphalangeal joint contracture of finger	8092	ALX1	ORPHA:306542
HP:0001220	Interphalangeal joint contracture of finger	29895	MYL11	OMIM:619110
HP:0001220	Interphalangeal joint contracture of finger	64840	PORCN	ORPHA:2092
HP:0001220	Interphalangeal joint contracture of finger	23443	SLC35A3	OMIM:615553
HP:0001220	Interphalangeal joint contracture of finger	285590	SH3PXD2B	ORPHA:137834
HP:0001220	Interphalangeal joint contracture of finger	1836	SLC26A2	ORPHA:628
HP:0001220	Interphalangeal joint contracture of finger	25914	RTTN	ORPHA:468631
HP:0001220	Interphalangeal joint contracture of finger	9935	MAFB	ORPHA:2774
HP:0001220	Interphalangeal joint contracture of finger	28952	CCDC22	OMIM:300963
HP:0001220	Interphalangeal joint contracture of finger	8450	CUL4B	ORPHA:85293
HP:0001220	Interphalangeal joint contracture of finger	26092	TOR1AIP1	OMIM:617072
HP:0001220	Interphalangeal joint contracture of finger	8242	KDM5C	ORPHA:85279
HP:0001220	Interphalangeal joint contracture of finger	59341	TRPV4	ORPHA:2635
HP:0001220	Interphalangeal joint contracture of finger	2261	FGFR3	ORPHA:85164
HP:0001220	Interphalangeal joint contracture of finger	4000	LMNA	ORPHA:1662
HP:0001220	Interphalangeal joint contracture of finger	10269	ZMPSTE24	ORPHA:1662
HP:0001220	Interphalangeal joint contracture of finger	1146	CHRNG	ORPHA:2990
HP:0001220	Interphalangeal joint contracture of finger	23522	KAT6B	ORPHA:3047
HP:0001220	Interphalangeal joint contracture of finger	26123	TCTN3	ORPHA:2753
HP:0001220	Interphalangeal joint contracture of finger	64131	XYLT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	124583	CANT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	55790	CSGALNACT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	23529	CLCF1	ORPHA:1545
HP:0001220	Interphalangeal joint contracture of finger	9244	CRLF1	ORPHA:1545
HP:0001220	Interphalangeal joint contracture of finger	51002	TPRKB	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	84942	WDR73	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	55644	OSGEP	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	57122	NUP107	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	10785	WDR4	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	55746	NUP133	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	112858	TP53RK	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	8270	LAGE3	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	5696	PSMB8	OMIM:256040
HP:0001220	Interphalangeal joint contracture of finger	56916	SMARCAD1	ORPHA:1658
HP:0001222	Spatulate thumbs	9469	CHST3	OMIM:245600
HP:0001222	Spatulate thumbs	26229	B3GAT3	OMIM:245600
HP:0001222	Spatulate thumbs	2317	FLNB	OMIM:150250
HP:0001223	Pointed proximal second through fifth metacarpals	2720	GLB1	OMIM:253010
HP:0001223	Pointed proximal second through fifth metacarpals	2588	GALNS	OMIM:253000
HP:0003019	Abnormality of the wrist	2131	EXT1	ORPHA:321
HP:0003019	Abnormality of the wrist	2132	EXT2	ORPHA:321
HP:0003019	Abnormality of the wrist	51199	NIN	OMIM:614851
HP:0003019	Abnormality of the wrist	51199	NIN	ORPHA:319675
HP:0003019	Abnormality of the wrist	6910	TBX5	OMIM:142900
HP:0003019	Abnormality of the wrist	6473	SHOX	ORPHA:240
HP:0003019	Abnormality of the wrist	6473	SHOX	OMIM:127300
HP:0003019	Abnormality of the wrist	6473	SHOX	ORPHA:2632
HP:0003019	Abnormality of the wrist	5307	PITX1	OMIM:186550
HP:0003019	Abnormality of the wrist	157570	ESCO2	OMIM:216100
HP:0003019	Abnormality of the wrist	5745	PTH1R	OMIM:600002
HP:0003019	Abnormality of the wrist	9361	LONP1	OMIM:600373
HP:0003019	Abnormality of the wrist	8720	MBTPS1	OMIM:618392
HP:0003019	Abnormality of the wrist	3549	IHH	OMIM:607778
HP:0003019	Abnormality of the wrist	633	BGN	OMIM:300106
HP:0003019	Abnormality of the wrist	9321	TRIP11	OMIM:184260
HP:0003019	Abnormality of the wrist	2137	EXTL3	OMIM:617425
HP:0003019	Abnormality of the wrist	55325	UFSP2	OMIM:617974
HP:0003019	Abnormality of the wrist	6023	RMRP	OMIM:607095
HP:0003019	Abnormality of the wrist	3209	HOXA13	OMIM:140000
HP:0003019	Abnormality of the wrist	1280	COL2A1	ORPHA:93346
HP:0003019	Abnormality of the wrist	865	CBFB	OMIM:620099
HP:0003019	Abnormality of the wrist	4796	TONSL	OMIM:271510
HP:0003019	Abnormality of the wrist	4148	MATN3	OMIM:607078
HP:0003019	Abnormality of the wrist	55650	PIGV	OMIM:239300
HP:0003019	Abnormality of the wrist	8838	CCN6	ORPHA:1159
HP:0003019	Abnormality of the wrist	10216	PRG4	ORPHA:2848
HP:0003019	Abnormality of the wrist	4952	OCRL	OMIM:309000
HP:0003019	Abnormality of the wrist	4204	MECP2	OMIM:300055
HP:0003019	Abnormality of the wrist	4593	MUSK	OMIM:208150
HP:0003019	Abnormality of the wrist	29895	MYL11	OMIM:619110
HP:0003019	Abnormality of the wrist	10381	TUBB3	OMIM:600638
HP:0003019	Abnormality of the wrist	57863	CADM3	OMIM:619519
HP:0003019	Abnormality of the wrist	55681	SCYL2	ORPHA:1143
HP:0003019	Abnormality of the wrist	84570	COL25A1	ORPHA:1143
HP:0003019	Abnormality of the wrist	57222	ERGIC1	ORPHA:1143
HP:0003019	Abnormality of the wrist	57211	ADGRG6	OMIM:616503
HP:0003019	Abnormality of the wrist	80208	SPG11	OMIM:616668
HP:0003019	Abnormality of the wrist	3339	HSPG2	OMIM:255800
HP:0003019	Abnormality of the wrist	3339	HSPG2	ORPHA:800
HP:0003019	Abnormality of the wrist	9719	ADAMTSL2	OMIM:231050
HP:0003019	Abnormality of the wrist	825	CAPN3	ORPHA:267
HP:0003019	Abnormality of the wrist	6913	TBX15	OMIM:260660
HP:0003019	Abnormality of the wrist	2201	FBN2	OMIM:121050
HP:0003019	Abnormality of the wrist	8449	DHX16	OMIM:618733
HP:0003019	Abnormality of the wrist	2067	ERCC1	OMIM:610758
HP:0003019	Abnormality of the wrist	1303	COL12A1	ORPHA:610
HP:0003019	Abnormality of the wrist	1291	COL6A1	ORPHA:610
HP:0003019	Abnormality of the wrist	1292	COL6A2	ORPHA:610
HP:0003019	Abnormality of the wrist	1293	COL6A3	ORPHA:610
HP:0003019	Abnormality of the wrist	203859	ANO5	ORPHA:206549
HP:0003019	Abnormality of the wrist	538	ATP7A	OMIM:304150
HP:0003019	Abnormality of the wrist	54928	BPNT2	OMIM:614078
HP:0003019	Abnormality of the wrist	4313	MMP2	ORPHA:371428
HP:0003019	Abnormality of the wrist	4313	MMP2	OMIM:259600
HP:0003019	Abnormality of the wrist	4323	MMP14	ORPHA:371428
HP:0003019	Abnormality of the wrist	4323	MMP14	OMIM:277950
HP:0003019	Abnormality of the wrist	9935	MAFB	OMIM:166300
HP:0003019	Abnormality of the wrist	9935	MAFB	ORPHA:2774
HP:0003019	Abnormality of the wrist	1311	COMP	OMIM:177170
HP:0003019	Abnormality of the wrist	54808	DYM	OMIM:223800
HP:0003019	Abnormality of the wrist	59341	TRPV4	OMIM:184252
HP:0003019	Abnormality of the wrist	59341	TRPV4	ORPHA:93314
HP:0003019	Abnormality of the wrist	3835	KIF22	OMIM:603546
HP:0003019	Abnormality of the wrist	9451	EIF2AK3	OMIM:226980
HP:0003019	Abnormality of the wrist	23233	EXOC6B	OMIM:618395
HP:0003019	Abnormality of the wrist	89970	RSPRY1	ORPHA:457395
HP:0003019	Abnormality of the wrist	89970	RSPRY1	OMIM:616723
HP:0003019	Abnormality of the wrist	57167	SALL4	OMIM:147750
HP:0003019	Abnormality of the wrist	54187	NANS	OMIM:610442
HP:0003019	Abnormality of the wrist	79158	GNPTAB	OMIM:252600
HP:0003019	Abnormality of the wrist	79158	GNPTAB	OMIM:252500
HP:0003019	Abnormality of the wrist	9939	RBM8A	OMIM:274000
HP:0003019	Abnormality of the wrist	5832	ALDH18A1	OMIM:601162
HP:0003019	Abnormality of the wrist	5728	PTEN	ORPHA:744
HP:0003019	Abnormality of the wrist	207	AKT1	ORPHA:744
HP:0003019	Abnormality of the wrist	6775	STAT4	ORPHA:85408
HP:0003019	Abnormality of the wrist	3560	IL2RB	ORPHA:85408
HP:0003019	Abnormality of the wrist	79722	ANKRD55	ORPHA:85408
HP:0003019	Abnormality of the wrist	26191	PTPN22	ORPHA:85408
HP:0003019	Abnormality of the wrist	919	CD247	ORPHA:85408
HP:0003019	Abnormality of the wrist	3559	IL2RA	ORPHA:85408
HP:0003019	Abnormality of the wrist	5771	PTPN2	ORPHA:85408
HP:0003019	Abnormality of the wrist	5718	PSMD12	ORPHA:529962
HP:0003019	Abnormality of the wrist	2186	BPTF	ORPHA:529962
HP:0003019	Abnormality of the wrist	1294	COL7A1	ORPHA:89843
HP:0003019	Abnormality of the wrist	6926	TBX3	ORPHA:3138
HP:0003019	Abnormality of the wrist	7421	VDR	OMIM:277440
HP:0003019	Abnormality of the wrist	9131	AIFM1	ORPHA:83629
HP:0003019	Abnormality of the wrist	120227	CYP2R1	OMIM:600081
HP:0003019	Abnormality of the wrist	120227	CYP2R1	ORPHA:289157
HP:0003019	Abnormality of the wrist	1594	CYP27B1	OMIM:264700
HP:0003019	Abnormality of the wrist	1594	CYP27B1	ORPHA:289157
HP:0003019	Abnormality of the wrist	1184	CLCN5	OMIM:300554
HP:0003019	Abnormality of the wrist	1184	CLCN5	OMIM:300009
HP:0003019	Abnormality of the wrist	1758	DMP1	ORPHA:289176
HP:0003019	Abnormality of the wrist	142680	SLC34A3	OMIM:241530
HP:0003019	Abnormality of the wrist	23387	SIK3	OMIM:618162
HP:0003019	Abnormality of the wrist	171023	ASXL1	ORPHA:97297
HP:0003019	Abnormality of the wrist	171023	ASXL1	OMIM:605039
HP:0003019	Abnormality of the wrist	57498	KIDINS220	OMIM:619501
HP:0003019	Abnormality of the wrist	5881	RAC3	OMIM:618577
HP:0003019	Abnormality of the wrist	2720	GLB1	OMIM:253010
HP:0003019	Abnormality of the wrist	427	ASAH1	OMIM:228000
HP:0003019	Abnormality of the wrist	2588	GALNS	OMIM:253000
HP:0003019	Abnormality of the wrist	7140	TNNT3	ORPHA:1147
HP:0003019	Abnormality of the wrist	7140	TNNT3	OMIM:618435
HP:0003019	Abnormality of the wrist	7169	TPM2	ORPHA:1147
HP:0003019	Abnormality of the wrist	259232	NALCN	ORPHA:1147
HP:0003019	Abnormality of the wrist	7136	TNNI2	ORPHA:1147
HP:0003019	Abnormality of the wrist	7136	TNNI2	OMIM:601680
HP:0003019	Abnormality of the wrist	388015	RTL1	ORPHA:96334
HP:0003019	Abnormality of the wrist	8788	DLK1	ORPHA:96334
HP:0003019	Abnormality of the wrist	55384	MEG3	ORPHA:96334
HP:0003019	Abnormality of the wrist	79087	ALG12	ORPHA:79324
HP:0003019	Abnormality of the wrist	25839	COG4	OMIM:618150
HP:0003019	Abnormality of the wrist	2697	GJA1	ORPHA:2710
HP:0003019	Abnormality of the wrist	2317	FLNB	OMIM:150250
HP:0003019	Abnormality of the wrist	165	AEBP1	ORPHA:536532
HP:0003019	Abnormality of the wrist	84068	SLC10A7	OMIM:618363
HP:0003019	Abnormality of the wrist	29072	SETD2	OMIM:616831
HP:0003019	Abnormality of the wrist	5144	PDE4D	OMIM:614613
HP:0003019	Abnormality of the wrist	64131	XYLT1	OMIM:615777
HP:0003019	Abnormality of the wrist	347734	SLC35B2	OMIM:620269
HP:0003019	Abnormality of the wrist	23169	SLC35D1	OMIM:269250
HP:0003019	Abnormality of the wrist	124583	CANT1	OMIM:617719
HP:0003019	Abnormality of the wrist	124583	CANT1	OMIM:251450
HP:0003019	Abnormality of the wrist	23592	LEMD3	ORPHA:166119
HP:0003019	Abnormality of the wrist	10682	EBP	OMIM:302960
HP:0003019	Abnormality of the wrist	10568	SLC34A2	ORPHA:60025
HP:0003019	Abnormality of the wrist	3417	IDH1	ORPHA:99646
HP:0003019	Abnormality of the wrist	64327	LMBR1	ORPHA:93321
HP:0003019	Abnormality of the wrist	6469	SHH	ORPHA:93321
HP:0003019	Abnormality of the wrist	64359	NXN	ORPHA:1507
HP:0003019	Abnormality of the wrist	4920	ROR2	ORPHA:1507
HP:0003019	Abnormality of the wrist	64093	SMOC1	ORPHA:1106
HP:0003019	Abnormality of the wrist	5566	PRKACA	ORPHA:289
HP:0003019	Abnormality of the wrist	5567	PRKACB	ORPHA:289
HP:0003019	Abnormality of the wrist	2735	GLI1	ORPHA:289
HP:0003019	Abnormality of the wrist	2121	EVC	ORPHA:289
HP:0003019	Abnormality of the wrist	51626	DYNC2LI1	ORPHA:289
HP:0003019	Abnormality of the wrist	132884	EVC2	ORPHA:289
HP:0003019	Abnormality of the wrist	727857	BHLHA9	ORPHA:157801
HP:0003019	Abnormality of the wrist	9555	MACROH2A1	ORPHA:1275
HP:0003019	Abnormality of the wrist	4038	LRP4	ORPHA:3258
HP:0003019	Abnormality of the wrist	324	APC	ORPHA:3258
HP:0003019	Abnormality of the wrist	2263	FGFR2	OMIM:101200
HP:0003019	Abnormality of the wrist	9469	CHST3	OMIM:143095
HP:0003019	Abnormality of the wrist	2719	GPC3	OMIM:312870
HP:0003019	Abnormality of the wrist	2239	GPC4	OMIM:312870
HP:0003019	Abnormality of the wrist	4853	NOTCH2	OMIM:102500
HP:0003019	Abnormality of the wrist	4000	LMNA	ORPHA:740
HP:0003019	Abnormality of the wrist	10269	ZMPSTE24	ORPHA:740
HP:0003019	Abnormality of the wrist	54332	GDAP1	ORPHA:99948
HP:0003019	Abnormality of the wrist	6399	TRAPPC2	ORPHA:93284
HP:0003019	Abnormality of the wrist	80207	OPA3	ORPHA:67036
HP:0003019	Abnormality of the wrist	4054	LTBP3	OMIM:617809
HP:0003019	Abnormality of the wrist	8292	COLQ	ORPHA:98915
HP:0003019	Abnormality of the wrist	3913	LAMB2	ORPHA:98915
HP:0003019	Abnormality of the wrist	4625	MYH7	ORPHA:437572
HP:0003019	Abnormality of the wrist	63895	PIEZO2	OMIM:108145
HP:0003019	Abnormality of the wrist	10020	GNE	ORPHA:602
HP:0003019	Abnormality of the wrist	7476	WNT7A	OMIM:276820
HP:0003019	Abnormality of the wrist	4921	DDR2	OMIM:271665
HP:0003019	Abnormality of the wrist	5167	ENPP1	ORPHA:51608
HP:0003019	Abnormality of the wrist	368	ABCC6	ORPHA:51608
HP:0003019	Abnormality of the wrist	4621	MYH3	OMIM:178110
HP:0003019	Abnormality of the wrist	2316	FLNA	OMIM:305620
HP:0003019	Abnormality of the wrist	2316	FLNA	ORPHA:90652
HP:0003019	Abnormality of the wrist	5447	POR	OMIM:201750
HP:0003019	Abnormality of the wrist	9241	NOG	OMIM:186570
HP:0003019	Abnormality of the wrist	9241	NOG	OMIM:611377
HP:0003019	Abnormality of the wrist	9241	NOG	OMIM:186500
HP:0003019	Abnormality of the wrist	9241	NOG	OMIM:185800
HP:0003019	Abnormality of the wrist	85301	COL27A1	OMIM:615155
HP:0003019	Abnormality of the wrist	2261	FGFR3	ORPHA:53271
HP:0003019	Abnormality of the wrist	22856	CHSY1	OMIM:605282
HP:0003019	Abnormality of the wrist	5077	PAX3	OMIM:148820
HP:0003019	Abnormality of the wrist	658	BMPR1B	OMIM:609441
HP:0003019	Abnormality of the wrist	9401	RECQL4	OMIM:218600
HP:0003019	Abnormality of the wrist	3239	HOXD13	OMIM:186300
HP:0003019	Abnormality of the wrist	6885	MAP3K7	OMIM:157800
HP:0003019	Abnormality of the wrist	2192	FBLN1	OMIM:608180
HP:0003019	Abnormality of the wrist	126792	B3GALT6	OMIM:615349
HP:0003019	Abnormality of the wrist	126792	B3GALT6	OMIM:271640
HP:0003019	Abnormality of the wrist	8200	GDF5	OMIM:610017
HP:0003019	Abnormality of the wrist	7516	XRCC2	OMIM:617247
HP:0003019	Abnormality of the wrist	11160	ERLIN2	ORPHA:209951
HP:0003019	Abnormality of the wrist	5297	PI4KA	OMIM:616531
HP:0001225	Wrist swelling	8838	CCN6	ORPHA:1159
HP:0001225	Wrist swelling	10216	PRG4	ORPHA:2848
HP:0001225	Wrist swelling	9935	MAFB	OMIM:166300
HP:0001225	Wrist swelling	9935	MAFB	ORPHA:2774
HP:0001225	Wrist swelling	4952	OCRL	OMIM:309000
HP:0001227	Abnormality of the thenar eminence	6135	RPL11	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6138	RPL15	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6229	RPS24	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6125	RPL5	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6204	RPS10	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6224	RPS20	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6165	RPL35A	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	2623	GATA1	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6232	RPS27	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6231	RPS26	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	11224	RPL35	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6160	RPL31	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6218	RPS17	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6201	RPS7	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6155	RPL27	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6154	RPL26	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6210	RPS15A	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	90121	TSR2	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6141	RPL18	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6235	RPS29	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6234	RPS28	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	51816	ADA2	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6910	TBX5	OMIM:142900
HP:0001227	Abnormality of the thenar eminence	11117	EMILIN1	OMIM:620080
HP:0001227	Abnormality of the thenar eminence	5889	RAD51C	OMIM:613390
HP:0001227	Abnormality of the thenar eminence	9775	EIF4A3	OMIM:268305
HP:0001227	Abnormality of the thenar eminence	57167	SALL4	OMIM:147750
HP:0001227	Abnormality of the thenar eminence	57167	SALL4	OMIM:607323
HP:0001227	Abnormality of the thenar eminence	23291	FBXW11	OMIM:618914
HP:0001227	Abnormality of the thenar eminence	2263	FGFR2	OMIM:149730
HP:0001227	Abnormality of the thenar eminence	3209	HOXA13	OMIM:140000
HP:0001227	Abnormality of the thenar eminence	121512	FGD4	OMIM:609311
HP:0001227	Abnormality of the thenar eminence	6223	RPS19	OMIM:105650
HP:0011441	Abnormal medulla oblongata morphology	80199	FUZ	ORPHA:1136
HP:0011441	Abnormal medulla oblongata morphology	2581	GALC	ORPHA:206448
HP:0011441	Abnormal medulla oblongata morphology	2670	GFAP	ORPHA:363722
HP:0011442	Abnormal central motor function	2774	GNAL	OMIM:615073
HP:0011442	Abnormal central motor function	2774	GNAL	ORPHA:329466
HP:0011442	Abnormal central motor function	91754	NEK9	OMIM:617022
HP:0011442	Abnormal central motor function	387119	CEP85L	OMIM:618873
HP:0011442	Abnormal central motor function	64221	ROBO3	OMIM:607313
HP:0011442	Abnormal central motor function	64601	VPS16	OMIM:619291
HP:0011442	Abnormal central motor function	8260	NAA10	OMIM:300855
HP:0011442	Abnormal central motor function	8260	NAA10	ORPHA:276432
HP:0011442	Abnormal central motor function	10381	TUBB3	ORPHA:300570
HP:0011442	Abnormal central motor function	7703	PCGF2	OMIM:618371
HP:0011442	Abnormal central motor function	10935	PRDX3	OMIM:619862
HP:0011442	Abnormal central motor function	2313	FLI1	ORPHA:370348
HP:0011442	Abnormal central motor function	8558	CDK10	OMIM:617694
HP:0011442	Abnormal central motor function	11198	SUPT16H	OMIM:619480
HP:0011442	Abnormal central motor function	79796	ALG9	ORPHA:79328
HP:0011442	Abnormal central motor function	78989	COLEC11	OMIM:265050
HP:0011442	Abnormal central motor function	4617	MYF5	OMIM:618155
HP:0011442	Abnormal central motor function	256472	TMEM151A	OMIM:620245
HP:0011442	Abnormal central motor function	3679	ITGA7	OMIM:613204
HP:0011442	Abnormal central motor function	7042	TGFB2	OMIM:614816
HP:0011442	Abnormal central motor function	26160	IFT172	OMIM:615630
HP:0011442	Abnormal central motor function	673	BRAF	OMIM:115150
HP:0011442	Abnormal central motor function	613	BCR	ORPHA:261330
HP:0011442	Abnormal central motor function	1399	CRKL	ORPHA:261330
HP:0011442	Abnormal central motor function	5594	MAPK1	ORPHA:261330
HP:0011442	Abnormal central motor function	84162	BLTP1	OMIM:617822
HP:0011442	Abnormal central motor function	3756	KCNH1	OMIM:135500
HP:0011442	Abnormal central motor function	80173	IFT74	OMIM:619582
HP:0011442	Abnormal central motor function	8363	H4C11	OMIM:619759
HP:0011442	Abnormal central motor function	8974	P4HA2	ORPHA:397
HP:0011442	Abnormal central motor function	26235	FBXL4	OMIM:615471
HP:0011442	Abnormal central motor function	54101	RIPK4	ORPHA:1401
HP:0011442	Abnormal central motor function	51099	ABHD5	OMIM:275630
HP:0011442	Abnormal central motor function	51099	ABHD5	ORPHA:98907
HP:0011442	Abnormal central motor function	6616	SNAP25	OMIM:616330
HP:0011442	Abnormal central motor function	6616	SNAP25	ORPHA:98914
HP:0011442	Abnormal central motor function	27245	AHDC1	ORPHA:412069
HP:0011442	Abnormal central motor function	10111	RAD50	OMIM:613078
HP:0011442	Abnormal central motor function	23327	NEDD4L	OMIM:617201
HP:0011442	Abnormal central motor function	5073	PARN	OMIM:616353
HP:0011442	Abnormal central motor function	5073	PARN	ORPHA:3322
HP:0011442	Abnormal central motor function	3340	NDST1	OMIM:616116
HP:0011442	Abnormal central motor function	4539	MT-ND4L	ORPHA:104
HP:0011442	Abnormal central motor function	4539	MT-ND4L	OMIM:535000
HP:0011442	Abnormal central motor function	4598	MVK	ORPHA:343
HP:0011442	Abnormal central motor function	4598	MVK	ORPHA:29
HP:0011442	Abnormal central motor function	4598	MVK	OMIM:610377
HP:0011442	Abnormal central motor function	3773	KCNJ16	OMIM:619406
HP:0011442	Abnormal central motor function	79633	FAT4	ORPHA:314679
HP:0011442	Abnormal central motor function	8642	DCHS1	ORPHA:314679
HP:0011442	Abnormal central motor function	51567	TDP2	ORPHA:404493
HP:0011442	Abnormal central motor function	51567	TDP2	OMIM:616949
HP:0011442	Abnormal central motor function	4615	MYD88	ORPHA:33226
HP:0011442	Abnormal central motor function	9742	IFT140	OMIM:266920
HP:0011442	Abnormal central motor function	435	ASL	ORPHA:23
HP:0011442	Abnormal central motor function	435	ASL	OMIM:207900
HP:0011442	Abnormal central motor function	4549	MT-RNR1	ORPHA:551
HP:0011442	Abnormal central motor function	7915	ALDH5A1	ORPHA:22
HP:0011442	Abnormal central motor function	7915	ALDH5A1	OMIM:271980
HP:0011442	Abnormal central motor function	9526	MPDU1	OMIM:609180
HP:0011442	Abnormal central motor function	55182	RNF220	OMIM:619688
HP:0011442	Abnormal central motor function	55777	MBD5	OMIM:156200
HP:0011442	Abnormal central motor function	55777	MBD5	ORPHA:228402
HP:0011442	Abnormal central motor function	7846	TUBA1A	ORPHA:467166
HP:0011442	Abnormal central motor function	7846	TUBA1A	OMIM:611603
HP:0011442	Abnormal central motor function	8888	MCM3AP	OMIM:618124
HP:0011442	Abnormal central motor function	3188	HNRNPH2	OMIM:300986
HP:0011442	Abnormal central motor function	51763	INPP5K	ORPHA:559
HP:0011442	Abnormal central motor function	27107	ZBTB11	OMIM:618383
HP:0011442	Abnormal central motor function	94005	PIGS	OMIM:618143
HP:0011442	Abnormal central motor function	1457	CSNK2A1	OMIM:617062
HP:0011442	Abnormal central motor function	5625	PRODH	OMIM:239500
HP:0011442	Abnormal central motor function	55670	PEX26	ORPHA:772
HP:0011442	Abnormal central motor function	5824	PEX19	ORPHA:772
HP:0011442	Abnormal central motor function	8504	PEX3	ORPHA:772
HP:0011442	Abnormal central motor function	8799	PEX11B	ORPHA:772
HP:0011442	Abnormal central motor function	5830	PEX5	ORPHA:772
HP:0011442	Abnormal central motor function	5193	PEX12	ORPHA:772
HP:0011442	Abnormal central motor function	5193	PEX12	OMIM:266510
HP:0011442	Abnormal central motor function	5194	PEX13	ORPHA:772
HP:0011442	Abnormal central motor function	5195	PEX14	ORPHA:772
HP:0011442	Abnormal central motor function	3090	HIC1	ORPHA:531
HP:0011442	Abnormal central motor function	7531	YWHAE	ORPHA:531
HP:0011442	Abnormal central motor function	54187	NANS	OMIM:610442
HP:0011442	Abnormal central motor function	1496	CTNNA2	OMIM:618174
HP:0011442	Abnormal central motor function	1373	CPS1	OMIM:237300
HP:0011442	Abnormal central motor function	26146	TRAF3IP1	ORPHA:3156
HP:0011442	Abnormal central motor function	9657	IQCB1	ORPHA:3156
HP:0011442	Abnormal central motor function	10806	SDCCAG8	ORPHA:3156
HP:0011442	Abnormal central motor function	27130	INVS	ORPHA:3156
HP:0011442	Abnormal central motor function	80184	CEP290	ORPHA:3156
HP:0011442	Abnormal central motor function	80184	CEP290	OMIM:610188
HP:0011442	Abnormal central motor function	80184	CEP290	ORPHA:2318
HP:0011442	Abnormal central motor function	261734	NPHP4	ORPHA:3156
HP:0011442	Abnormal central motor function	57728	WDR19	ORPHA:3156
HP:0011442	Abnormal central motor function	27031	NPHP3	ORPHA:3156
HP:0011442	Abnormal central motor function	22897	CEP164	ORPHA:3156
HP:0011442	Abnormal central motor function	55294	FBXW7	OMIM:620012
HP:0011442	Abnormal central motor function	324	APC	ORPHA:99818
HP:0011442	Abnormal central motor function	2038	EPB42	ORPHA:822
HP:0011442	Abnormal central motor function	6521	SLC4A1	ORPHA:822
HP:0011442	Abnormal central motor function	6710	SPTB	ORPHA:822
HP:0011442	Abnormal central motor function	6708	SPTA1	ORPHA:822
HP:0011442	Abnormal central motor function	286	ANK1	ORPHA:822
HP:0011442	Abnormal central motor function	54476	RNF216	OMIM:212840
HP:0011442	Abnormal central motor function	54476	RNF216	ORPHA:1173
HP:0011442	Abnormal central motor function	25839	COG4	ORPHA:263501
HP:0011442	Abnormal central motor function	25839	COG4	OMIM:613489
HP:0011442	Abnormal central motor function	1738	DLD	ORPHA:2394
HP:0011442	Abnormal central motor function	1738	DLD	OMIM:246900
HP:0011442	Abnormal central motor function	1716	DGUOK	ORPHA:329314
HP:0011442	Abnormal central motor function	5080	PAX6	ORPHA:1065
HP:0011442	Abnormal central motor function	1509	CTSD	OMIM:610127
HP:0011442	Abnormal central motor function	1629	DBT	OMIM:248600
HP:0011442	Abnormal central motor function	593	BCKDHA	OMIM:248600
HP:0011442	Abnormal central motor function	594	BCKDHB	OMIM:248600
HP:0011442	Abnormal central motor function	493856	CISD2	ORPHA:3463
HP:0011442	Abnormal central motor function	25894	PLEKHG4	ORPHA:98765
HP:0011442	Abnormal central motor function	283209	PGM2L1	OMIM:620191
HP:0011442	Abnormal central motor function	2934	GSN	ORPHA:85448
HP:0011442	Abnormal central motor function	1910	EDNRB	OMIM:277580
HP:0011442	Abnormal central motor function	55343	SLC35C1	ORPHA:99843
HP:0011442	Abnormal central motor function	34	ACADM	ORPHA:42
HP:0011442	Abnormal central motor function	57393	CLTRN	ORPHA:2116
HP:0011442	Abnormal central motor function	445	ASS1	OMIM:215700
HP:0011442	Abnormal central motor function	9894	TELO2	OMIM:616954
HP:0011442	Abnormal central motor function	9894	TELO2	ORPHA:488642
HP:0011442	Abnormal central motor function	6948	TCN2	OMIM:275350
HP:0011442	Abnormal central motor function	84816	RTN4IP1	OMIM:616732
HP:0011442	Abnormal central motor function	998	CDC42	OMIM:616737
HP:0011442	Abnormal central motor function	3097	HIVEP2	OMIM:616977
HP:0011442	Abnormal central motor function	26277	TINF2	OMIM:127550
HP:0011442	Abnormal central motor function	26277	TINF2	OMIM:268130
HP:0011442	Abnormal central motor function	26277	TINF2	OMIM:613990
HP:0011442	Abnormal central motor function	26277	TINF2	ORPHA:3322
HP:0011442	Abnormal central motor function	7012	TERC	OMIM:127550
HP:0011442	Abnormal central motor function	2821	GPI	OMIM:613470
HP:0011442	Abnormal central motor function	10560	SLC19A2	OMIM:249270
HP:0011442	Abnormal central motor function	4358	MPV17	OMIM:256810
HP:0011442	Abnormal central motor function	51524	TMEM138	ORPHA:2318
HP:0011442	Abnormal central motor function	23090	ZNF423	ORPHA:2318
HP:0011442	Abnormal central motor function	80781	COL18A1	OMIM:267750
HP:0011442	Abnormal central motor function	57688	ZSWIM6	OMIM:617865
HP:0011442	Abnormal central motor function	4649	MYO9A	ORPHA:98914
HP:0011442	Abnormal central motor function	1305	COL13A1	ORPHA:98914
HP:0011442	Abnormal central motor function	1103	CHAT	ORPHA:98914
HP:0011442	Abnormal central motor function	375790	AGRN	ORPHA:98914
HP:0011442	Abnormal central motor function	6572	SLC18A3	ORPHA:98914
HP:0011442	Abnormal central motor function	617	BCS1L	OMIM:124000
HP:0011442	Abnormal central motor function	9699	RIMS2	OMIM:618970
HP:0011442	Abnormal central motor function	672	BRCA1	OMIM:617883
HP:0011442	Abnormal central motor function	57194	ATP10A	ORPHA:411515
HP:0011442	Abnormal central motor function	54539	NDUFB11	ORPHA:2609
HP:0011442	Abnormal central motor function	51103	NDUFAF1	ORPHA:2609
HP:0011442	Abnormal central motor function	4716	NDUFB10	ORPHA:2609
HP:0011442	Abnormal central motor function	284184	NDUFAF8	ORPHA:2609
HP:0011442	Abnormal central motor function	55863	TMEM126B	ORPHA:2609
HP:0011442	Abnormal central motor function	4726	NDUFS6	ORPHA:2609
HP:0011442	Abnormal central motor function	126328	NDUFA11	ORPHA:2609
HP:0011442	Abnormal central motor function	4709	NDUFB3	ORPHA:2609
HP:0011442	Abnormal central motor function	29078	NDUFAF4	ORPHA:2609
HP:0011442	Abnormal central motor function	4700	NDUFA6	ORPHA:2609
HP:0011442	Abnormal central motor function	4715	NDUFB9	ORPHA:2609
HP:0011442	Abnormal central motor function	1736	DKC1	OMIM:305000
HP:0011442	Abnormal central motor function	1736	DKC1	ORPHA:3322
HP:0011442	Abnormal central motor function	2067	ERCC1	ORPHA:90322
HP:0011442	Abnormal central motor function	10026	PIGK	OMIM:618879
HP:0011442	Abnormal central motor function	10559	SLC35A1	OMIM:603585
HP:0011442	Abnormal central motor function	7469	NELFA	ORPHA:280
HP:0011442	Abnormal central motor function	7468	NSD2	ORPHA:280
HP:0011442	Abnormal central motor function	84314	TMEM107	OMIM:617563
HP:0011442	Abnormal central motor function	84314	TMEM107	OMIM:617562
HP:0011442	Abnormal central motor function	8879	SGPL1	OMIM:617575
HP:0011442	Abnormal central motor function	285362	SUMF1	OMIM:272200
HP:0011442	Abnormal central motor function	26137	ZBTB20	OMIM:259050
HP:0011442	Abnormal central motor function	79991	STN1	OMIM:617341
HP:0011442	Abnormal central motor function	256471	MFSD8	OMIM:610951
HP:0011442	Abnormal central motor function	2729	GCLC	ORPHA:33574
HP:0011442	Abnormal central motor function	23162	MAPK8IP3	OMIM:618443
HP:0011442	Abnormal central motor function	29929	ALG6	ORPHA:79320
HP:0011442	Abnormal central motor function	29929	ALG6	OMIM:603147
HP:0011442	Abnormal central motor function	79053	ALG8	ORPHA:79325
HP:0011442	Abnormal central motor function	29893	PSMC3IP	ORPHA:243
HP:0011442	Abnormal central motor function	171568	POLR3H	ORPHA:243
HP:0011442	Abnormal central motor function	2516	NR5A1	ORPHA:243
HP:0011442	Abnormal central motor function	125150	ZSWIM7	ORPHA:243
HP:0011442	Abnormal central motor function	9210	BMP15	ORPHA:243
HP:0011442	Abnormal central motor function	57122	NUP107	ORPHA:243
HP:0011442	Abnormal central motor function	23514	SPIDR	ORPHA:243
HP:0011442	Abnormal central motor function	2492	FSHR	ORPHA:243
HP:0011442	Abnormal central motor function	56945	MRPS22	ORPHA:243
HP:0011442	Abnormal central motor function	646	BNC1	ORPHA:243
HP:0011442	Abnormal central motor function	4509	MT-ATP8	ORPHA:480
HP:0011442	Abnormal central motor function	9342	SNAP29	ORPHA:66631
HP:0011442	Abnormal central motor function	25929	GEMIN5	OMIM:619333
HP:0011442	Abnormal central motor function	2560	GABRB1	OMIM:617153
HP:0011442	Abnormal central motor function	79641	ROGDI	OMIM:226750
HP:0011442	Abnormal central motor function	10483	SEC23B	ORPHA:201
HP:0011442	Abnormal central motor function	205717	USF3	ORPHA:201
HP:0011442	Abnormal central motor function	100144748	KLLN	ORPHA:201
HP:0011442	Abnormal central motor function	51095	TRNT1	OMIM:616084
HP:0011442	Abnormal central motor function	29926	GMPPA	ORPHA:869
HP:0011442	Abnormal central motor function	29926	GMPPA	OMIM:615510
HP:0011442	Abnormal central motor function	440138	ALG11	ORPHA:280071
HP:0011442	Abnormal central motor function	79644	SRD5A3	ORPHA:324737
HP:0011442	Abnormal central motor function	27183	VPS4A	OMIM:619273
HP:0011442	Abnormal central motor function	4570	MT-TN	OMIM:220110
HP:0011442	Abnormal central motor function	2299	FOXI1	ORPHA:705
HP:0011442	Abnormal central motor function	5172	SLC26A4	ORPHA:705
HP:0011442	Abnormal central motor function	57176	VARS2	OMIM:615917
HP:0011442	Abnormal central motor function	1352	COX10	OMIM:619046
HP:0011442	Abnormal central motor function	686	BTD	OMIM:253260
HP:0011442	Abnormal central motor function	686	BTD	ORPHA:79241
HP:0011442	Abnormal central motor function	10015	PDCD6IP	OMIM:620047
HP:0011442	Abnormal central motor function	3117	HLA-DQA1	OMIM:212750
HP:0011442	Abnormal central motor function	23461	ABCA5	ORPHA:2026
HP:0011442	Abnormal central motor function	4089	SMAD4	OMIM:139210
HP:0011442	Abnormal central motor function	255928	SYT14	ORPHA:284271
HP:0011442	Abnormal central motor function	255928	SYT14	OMIM:614229
HP:0011442	Abnormal central motor function	55691	FRMD4A	OMIM:616819
HP:0011442	Abnormal central motor function	3187	HNRNPH1	OMIM:620083
HP:0011442	Abnormal central motor function	51750	RTEL1	ORPHA:3322
HP:0011442	Abnormal central motor function	65057	ACD	ORPHA:3322
HP:0011442	Abnormal central motor function	7507	XPA	ORPHA:910
HP:0011442	Abnormal central motor function	7507	XPA	OMIM:278700
HP:0011442	Abnormal central motor function	7508	XPC	ORPHA:910
HP:0011442	Abnormal central motor function	1643	DDB2	ORPHA:910
HP:0011442	Abnormal central motor function	125988	MICOS13	ORPHA:67047
HP:0011442	Abnormal central motor function	6301	SARS1	OMIM:617709
HP:0011442	Abnormal central motor function	203068	TUBB	OMIM:615771
HP:0011442	Abnormal central motor function	11253	MAN1B1	OMIM:614202
HP:0011442	Abnormal central motor function	3141	HLCS	ORPHA:79242
HP:0011442	Abnormal central motor function	7399	USH2A	ORPHA:231178
HP:0011442	Abnormal central motor function	79955	PDZD7	ORPHA:231178
HP:0011442	Abnormal central motor function	4647	MYO7A	ORPHA:231178
HP:0011442	Abnormal central motor function	4647	MYO7A	ORPHA:231169
HP:0011442	Abnormal central motor function	25861	WHRN	ORPHA:231178
HP:0011442	Abnormal central motor function	51002	TPRKB	OMIM:617731
HP:0011442	Abnormal central motor function	338	APOB	OMIM:615558
HP:0011442	Abnormal central motor function	7040	TGFB1	ORPHA:1328
HP:0011442	Abnormal central motor function	23209	MLC1	OMIM:604004
HP:0011442	Abnormal central motor function	5162	PDHB	ORPHA:255138
HP:0011442	Abnormal central motor function	7401	CLRN1	ORPHA:231183
HP:0011442	Abnormal central motor function	22901	ARSG	ORPHA:231183
HP:0011442	Abnormal central motor function	3035	HARS1	ORPHA:231183
HP:0011442	Abnormal central motor function	84131	CEP78	ORPHA:231183
HP:0011442	Abnormal central motor function	6591	SNAI2	ORPHA:2884
HP:0011442	Abnormal central motor function	3815	KIT	ORPHA:2884
HP:0011442	Abnormal central motor function	10083	USH1C	ORPHA:231169
HP:0011442	Abnormal central motor function	124590	USH1G	ORPHA:231169
HP:0011442	Abnormal central motor function	83715	ESPN	ORPHA:231169
HP:0011442	Abnormal central motor function	10518	CIB2	ORPHA:231169
HP:0011442	Abnormal central motor function	65217	PCDH15	ORPHA:231169
HP:0011442	Abnormal central motor function	55753	OGDHL	OMIM:619701
HP:0011442	Abnormal central motor function	1718	DHCR24	OMIM:602398
HP:0011442	Abnormal central motor function	1718	DHCR24	ORPHA:35107
HP:0011442	Abnormal central motor function	104	ADARB1	OMIM:618862
HP:0011442	Abnormal central motor function	23019	CNOT1	OMIM:618500
HP:0011442	Abnormal central motor function	51569	UFM1	OMIM:617899
HP:0011442	Abnormal central motor function	81857	MED25	OMIM:616449
HP:0011442	Abnormal central motor function	81857	MED25	ORPHA:464738
HP:0011442	Abnormal central motor function	3020	H3-3A	OMIM:619720
HP:0011442	Abnormal central motor function	10300	KATNB1	OMIM:616212
HP:0011442	Abnormal central motor function	166378	AFG2A	OMIM:616577
HP:0011442	Abnormal central motor function	288	ANK3	OMIM:615493
HP:0011442	Abnormal central motor function	288	ANK3	ORPHA:356996
HP:0011442	Abnormal central motor function	283987	HID1	OMIM:619983
HP:0011442	Abnormal central motor function	25930	PTPN23	OMIM:618890
HP:0011442	Abnormal central motor function	79731	NARS2	OMIM:616239
HP:0011442	Abnormal central motor function	29081	METTL5	OMIM:618665
HP:0011442	Abnormal central motor function	1182	CLCN3	OMIM:619517
HP:0011442	Abnormal central motor function	9276	COPB2	OMIM:619884
HP:0011442	Abnormal central motor function	9276	COPB2	OMIM:617800
HP:0011442	Abnormal central motor function	122961	ISCA2	OMIM:616370
HP:0011442	Abnormal central motor function	253959	RALGAPA1	OMIM:618797
HP:0011442	Abnormal central motor function	11041	B4GAT1	OMIM:615287
HP:0011442	Abnormal central motor function	113179	ADAT3	OMIM:615286
HP:0011442	Abnormal central motor function	113179	ADAT3	ORPHA:363528
HP:0011442	Abnormal central motor function	56947	MFF	ORPHA:485421
HP:0011442	Abnormal central motor function	56947	MFF	OMIM:617086
HP:0011442	Abnormal central motor function	9968	MED12	OMIM:305450
HP:0011442	Abnormal central motor function	79989	IFT56	OMIM:619534
HP:0011442	Abnormal central motor function	374969	SVBP	OMIM:618569
HP:0011442	Abnormal central motor function	1967	EIF2B1	OMIM:603896
HP:0011442	Abnormal central motor function	205327	C2orf69	OMIM:619423
HP:0011442	Abnormal central motor function	164	AP1G1	OMIM:619548
HP:0011442	Abnormal central motor function	164	AP1G1	OMIM:619467
HP:0011442	Abnormal central motor function	84894	LINGO1	OMIM:618103
HP:0011442	Abnormal central motor function	85476	GFM1	OMIM:609060
HP:0011442	Abnormal central motor function	128869	PIGU	OMIM:618590
HP:0011442	Abnormal central motor function	6651	SON	OMIM:617140
HP:0011442	Abnormal central motor function	6651	SON	ORPHA:500150
HP:0011442	Abnormal central motor function	10978	CLP1	ORPHA:411493
HP:0011442	Abnormal central motor function	10978	CLP1	OMIM:615803
HP:0011442	Abnormal central motor function	112939	NACC1	ORPHA:500545
HP:0011442	Abnormal central motor function	112939	NACC1	OMIM:617393
HP:0011442	Abnormal central motor function	1654	DDX3X	ORPHA:457260
HP:0011442	Abnormal central motor function	1654	DDX3X	OMIM:300958
HP:0011442	Abnormal central motor function	1725	DHPS	OMIM:618480
HP:0011442	Abnormal central motor function	63925	ZNF335	OMIM:615095
HP:0011442	Abnormal central motor function	92255	LMBRD2	OMIM:619694
HP:0011442	Abnormal central motor function	3376	IARS1	ORPHA:541423
HP:0011442	Abnormal central motor function	3376	IARS1	OMIM:617093
HP:0011442	Abnormal central motor function	1781	DYNC1I2	OMIM:618492
HP:0011442	Abnormal central motor function	112812	FDX2	OMIM:251900
HP:0011442	Abnormal central motor function	2009	EML1	OMIM:600348
HP:0011442	Abnormal central motor function	7284	TUFM	OMIM:610678
HP:0011442	Abnormal central motor function	1315	COPB1	OMIM:619255
HP:0011442	Abnormal central motor function	56922	MCCC1	ORPHA:6
HP:0011442	Abnormal central motor function	11342	RNF13	ORPHA:544503
HP:0011442	Abnormal central motor function	27445	PCLO	OMIM:608027
HP:0011442	Abnormal central motor function	11113	CIT	OMIM:617090
HP:0011442	Abnormal central motor function	375	ARF1	OMIM:618185
HP:0011442	Abnormal central motor function	83700	JAM3	OMIM:613730
HP:0011442	Abnormal central motor function	25821	MTO1	OMIM:614702
HP:0011442	Abnormal central motor function	9442	MED27	OMIM:619286
HP:0011442	Abnormal central motor function	4718	NDUFC2	OMIM:619170
HP:0011442	Abnormal central motor function	1351	COX8A	OMIM:619059
HP:0011442	Abnormal central motor function	23325	WASHC4	OMIM:615817
HP:0011442	Abnormal central motor function	7025	NR2F1	ORPHA:401777
HP:0011442	Abnormal central motor function	7025	NR2F1	OMIM:615722
HP:0011442	Abnormal central motor function	149371	EXOC8	OMIM:619076
HP:0011442	Abnormal central motor function	6558	SLC12A2	OMIM:619083
HP:0011442	Abnormal central motor function	9440	MED17	OMIM:613668
HP:0011442	Abnormal central motor function	50628	GEMIN4	OMIM:617913
HP:0011442	Abnormal central motor function	23512	SUZ12	ORPHA:3447
HP:0011442	Abnormal central motor function	53616	ADAM22	OMIM:617933
HP:0011442	Abnormal central motor function	54463	RETREG1	OMIM:613115
HP:0011442	Abnormal central motor function	100506658	OCLN	ORPHA:1229
HP:0011442	Abnormal central motor function	100506658	OCLN	OMIM:251290
HP:0011442	Abnormal central motor function	84693	MCEE	OMIM:251120
HP:0011442	Abnormal central motor function	175	AGA	OMIM:208400
HP:0011442	Abnormal central motor function	81689	ISCA1	OMIM:617613
HP:0011442	Abnormal central motor function	3832	KIF11	ORPHA:2526
HP:0011442	Abnormal central motor function	5873	RAB27A	OMIM:607624
HP:0011442	Abnormal central motor function	54888	NSUN2	OMIM:611091
HP:0011442	Abnormal central motor function	54802	TRIT1	OMIM:617873
HP:0011442	Abnormal central motor function	529	ATP6V1E1	ORPHA:357074
HP:0011442	Abnormal central motor function	100151683	RNU4ATAC	ORPHA:2636
HP:0011442	Abnormal central motor function	10844	TUBGCP2	OMIM:618737
HP:0011442	Abnormal central motor function	4858	NOVA2	OMIM:618859
HP:0011442	Abnormal central motor function	3912	LAMB1	OMIM:615191
HP:0011442	Abnormal central motor function	518	ATP5MC3	OMIM:619681
HP:0011442	Abnormal central motor function	5077	PAX3	ORPHA:896
HP:0011442	Abnormal central motor function	5077	PAX3	OMIM:148820
HP:0011442	Abnormal central motor function	546	ATRX	ORPHA:847
HP:0011442	Abnormal central motor function	26154	ABCA12	OMIM:601277
HP:0011442	Abnormal central motor function	953	ENTPD1	OMIM:615683
HP:0011442	Abnormal central motor function	23204	ARL6IP1	OMIM:615685
HP:0011442	Abnormal central motor function	55656	INTS8	OMIM:618572
HP:0011442	Abnormal central motor function	137492	VPS37A	OMIM:614898
HP:0011442	Abnormal central motor function	1499	CTNNB1	OMIM:615075
HP:0011442	Abnormal central motor function	54880	BCOR	OMIM:309800
HP:0011442	Abnormal central motor function	2316	FLNA	OMIM:300048
HP:0011442	Abnormal central motor function	10084	PQBP1	ORPHA:93947
HP:0011442	Abnormal central motor function	55250	ELP2	OMIM:617270
HP:0011442	Abnormal central motor function	22930	RAB3GAP1	OMIM:600118
HP:0011442	Abnormal central motor function	22930	RAB3GAP1	OMIM:619420
HP:0011442	Abnormal central motor function	4594	MMUT	ORPHA:289916
HP:0011442	Abnormal central motor function	4594	MMUT	ORPHA:79312
HP:0011442	Abnormal central motor function	1119	CHKA	OMIM:620023
HP:0011442	Abnormal central motor function	84520	GON7	OMIM:619603
HP:0011442	Abnormal central motor function	92609	TIMM50	OMIM:617698
HP:0011442	Abnormal central motor function	80067	DCAF17	ORPHA:3464
HP:0011442	Abnormal central motor function	80067	DCAF17	OMIM:241080
HP:0011442	Abnormal central motor function	3251	HPRT1	OMIM:300322
HP:0011442	Abnormal central motor function	10463	SLC30A9	OMIM:617595
HP:0011442	Abnormal central motor function	5455	POU3F3	OMIM:618604
HP:0011442	Abnormal central motor function	9439	MED23	OMIM:614249
HP:0011442	Abnormal central motor function	57731	SPTBN4	OMIM:617519
HP:0011442	Abnormal central motor function	2982	GUCY1A1	OMIM:615750
HP:0011442	Abnormal central motor function	7174	TPP2	ORPHA:444463
HP:0011442	Abnormal central motor function	8405	SPOP	OMIM:618829
HP:0011442	Abnormal central motor function	10551	AGR2	OMIM:620233
HP:0011442	Abnormal central motor function	3516	RBPJ	ORPHA:974
HP:0011442	Abnormal central motor function	4851	NOTCH1	ORPHA:974
HP:0011442	Abnormal central motor function	57514	ARHGAP31	ORPHA:974
HP:0011442	Abnormal central motor function	57572	DOCK6	ORPHA:974
HP:0011442	Abnormal central motor function	285203	EOGT	ORPHA:974
HP:0011442	Abnormal central motor function	54567	DLL4	ORPHA:974
HP:0011442	Abnormal central motor function	284403	WDR62	OMIM:604317
HP:0011442	Abnormal central motor function	4511	MT-TC	OMIM:540000
HP:0011442	Abnormal central motor function	4577	MT-TV	OMIM:540000
HP:0011442	Abnormal central motor function	23221	RHOBTB2	OMIM:618004
HP:0011442	Abnormal central motor function	340665	CYP26C1	ORPHA:398189
HP:0011442	Abnormal central motor function	3265	HRAS	ORPHA:2874
HP:0011442	Abnormal central motor function	7248	TSC1	OMIM:607341
HP:0011442	Abnormal central motor function	7249	TSC2	OMIM:607341
HP:0011442	Abnormal central motor function	6899	TBX1	OMIM:188400
HP:0011442	Abnormal central motor function	7098	TLR3	OMIM:613002
HP:0011442	Abnormal central motor function	3075	CFH	OMIM:235400
HP:0011442	Abnormal central motor function	3078	CFHR1	OMIM:235400
HP:0011442	Abnormal central motor function	10878	CFHR3	OMIM:235400
HP:0011442	Abnormal central motor function	55901	THSD1	ORPHA:231160
HP:0011442	Abnormal central motor function	7049	TGFBR3	ORPHA:231160
HP:0011442	Abnormal central motor function	1281	COL3A1	ORPHA:231160
HP:0011442	Abnormal central motor function	83854	ANGPTL6	ORPHA:231160
HP:0011442	Abnormal central motor function	2022	ENG	ORPHA:231160
HP:0011442	Abnormal central motor function	149233	IL23R	ORPHA:117
HP:0011442	Abnormal central motor function	3586	IL10	ORPHA:117
HP:0011442	Abnormal central motor function	4210	MEFV	ORPHA:117
HP:0011442	Abnormal central motor function	1230	CCR1	ORPHA:117
HP:0011442	Abnormal central motor function	355	FAS	ORPHA:117
HP:0011442	Abnormal central motor function	3592	IL12A	ORPHA:117
HP:0011442	Abnormal central motor function	101928376	IL12A-AS1	ORPHA:117
HP:0011442	Abnormal central motor function	3106	HLA-B	ORPHA:117
HP:0011442	Abnormal central motor function	7099	TLR4	ORPHA:117
HP:0011442	Abnormal central motor function	3459	IFNGR1	ORPHA:117
HP:0011442	Abnormal central motor function	720	C4A	ORPHA:117
HP:0011442	Abnormal central motor function	337867	UBAC2	ORPHA:117
HP:0011442	Abnormal central motor function	51752	ERAP1	ORPHA:117
HP:0011442	Abnormal central motor function	8302	KLRC4	ORPHA:117
HP:0011442	Abnormal central motor function	3763	KCNJ6	ORPHA:435628
HP:0011442	Abnormal central motor function	3763	KCNJ6	OMIM:614098
HP:0011442	Abnormal central motor function	51399	TRAPPC4	OMIM:618741
HP:0011442	Abnormal central motor function	84879	MFSD2A	OMIM:616486
HP:0011442	Abnormal central motor function	6659	SOX4	OMIM:618506
HP:0011442	Abnormal central motor function	4337	MOCS1	OMIM:252150
HP:0011442	Abnormal central motor function	7355	SLC35A2	ORPHA:356961
HP:0011442	Abnormal central motor function	84334	COA8	ORPHA:436271
HP:0011442	Abnormal central motor function	84334	COA8	OMIM:619061
HP:0011442	Abnormal central motor function	387787	LIPT2	OMIM:617668
HP:0011442	Abnormal central motor function	473	RERE	OMIM:616975
HP:0011442	Abnormal central motor function	4010	LMX1B	ORPHA:495818
HP:0011442	Abnormal central motor function	79944	L2HGDH	OMIM:236792
HP:0011442	Abnormal central motor function	79944	L2HGDH	ORPHA:79314
HP:0011442	Abnormal central motor function	2192	FBLN1	ORPHA:404451
HP:0011442	Abnormal central motor function	7143	TNR	OMIM:619653
HP:0011442	Abnormal central motor function	10195	ALG3	ORPHA:79321
HP:0011442	Abnormal central motor function	10195	ALG3	OMIM:601110
HP:0011442	Abnormal central motor function	3785	KCNQ2	OMIM:613720
HP:0011442	Abnormal central motor function	3028	HSD17B10	ORPHA:391428
HP:0011442	Abnormal central motor function	4353	MPO	OMIM:104300
HP:0011442	Abnormal central motor function	4846	NOS3	OMIM:104300
HP:0011442	Abnormal central motor function	5328	PLAU	OMIM:104300
HP:0011442	Abnormal central motor function	84909	AOPEP	OMIM:619565
HP:0011442	Abnormal central motor function	6620	SNCB	OMIM:127750
HP:0011442	Abnormal central motor function	847	CAT	ORPHA:926
HP:0011442	Abnormal central motor function	11340	EXOSC8	OMIM:616081
HP:0011442	Abnormal central motor function	11340	EXOSC8	ORPHA:2254
HP:0011442	Abnormal central motor function	23250	ATP11A	OMIM:619851
HP:0011442	Abnormal central motor function	7317	UBA1	ORPHA:1145
HP:0011442	Abnormal central motor function	7317	UBA1	OMIM:301830
HP:0011442	Abnormal central motor function	64856	VWA1	OMIM:619216
HP:0011442	Abnormal central motor function	203190	LGI3	OMIM:620007
HP:0011442	Abnormal central motor function	51010	EXOSC3	ORPHA:2254
HP:0011442	Abnormal central motor function	51010	EXOSC3	OMIM:614678
HP:0011442	Abnormal central motor function	8087	FXR1	OMIM:618822
HP:0011442	Abnormal central motor function	8087	FXR1	OMIM:618823
HP:0011442	Abnormal central motor function	127833	SYT2	OMIM:619461
HP:0011442	Abnormal central motor function	51305	KCNK9	ORPHA:166108
HP:0011442	Abnormal central motor function	58497	PRUNE1	ORPHA:544469
HP:0011442	Abnormal central motor function	89874	SLC25A21	OMIM:618811
HP:0011442	Abnormal central motor function	1959	EGR2	OMIM:145900
HP:0011442	Abnormal central motor function	23646	PLD3	OMIM:617770
HP:0011442	Abnormal central motor function	91452	ACBD5	OMIM:618863
HP:0011442	Abnormal central motor function	9254	CACNA2D2	OMIM:618501
HP:0011442	Abnormal central motor function	23261	CAMTA1	ORPHA:314647
HP:0011442	Abnormal central motor function	23261	CAMTA1	OMIM:614756
HP:0011442	Abnormal central motor function	8309	ACOX2	OMIM:617308
HP:0011442	Abnormal central motor function	55780	ERMARD	ORPHA:75857
HP:0011442	Abnormal central motor function	2332	FMR1	ORPHA:93256
HP:0011442	Abnormal central motor function	2332	FMR1	OMIM:300623
HP:0011442	Abnormal central motor function	51651	PTRH2	ORPHA:456312
HP:0011442	Abnormal central motor function	51651	PTRH2	OMIM:616263
HP:0011442	Abnormal central motor function	7156	TOP3A	OMIM:618098
HP:0011442	Abnormal central motor function	9895	TECPR2	OMIM:615031
HP:0011442	Abnormal central motor function	9895	TECPR2	ORPHA:320385
HP:0011442	Abnormal central motor function	23137	SMC5	OMIM:620185
HP:0011442	Abnormal central motor function	59336	PRDM13	OMIM:619761
HP:0011442	Abnormal central motor function	57462	MYORG	OMIM:618317
HP:0011442	Abnormal central motor function	200403	VWA3B	OMIM:616948
HP:0011442	Abnormal central motor function	92935	MARS2	OMIM:611390
HP:0011442	Abnormal central motor function	92935	MARS2	ORPHA:314603
HP:0011442	Abnormal central motor function	9698	PUM1	OMIM:617931
HP:0011442	Abnormal central motor function	4967	OGDH	OMIM:203740
HP:0011442	Abnormal central motor function	6548	SLC9A1	OMIM:616291
HP:0011442	Abnormal central motor function	91942	NDUFAF2	OMIM:618233
HP:0011442	Abnormal central motor function	56915	EXOSC5	OMIM:619576
HP:0011442	Abnormal central motor function	9512	PMPCB	OMIM:617954
HP:0011442	Abnormal central motor function	8270	LAGE3	OMIM:301006
HP:0011442	Abnormal central motor function	64849	SLC13A3	OMIM:618384
HP:0011442	Abnormal central motor function	131669	UROC1	OMIM:276880
HP:0011442	Abnormal central motor function	7518	XRCC4	OMIM:616541
HP:0011442	Abnormal central motor function	7515	XRCC1	OMIM:617633
HP:0011442	Abnormal central motor function	50640	PNPLA8	OMIM:251950
HP:0011442	Abnormal central motor function	25792	CIZ1	ORPHA:420492
HP:0011442	Abnormal central motor function	5274	SERPINI1	OMIM:604218
HP:0011442	Abnormal central motor function	10617	STAMBP	OMIM:614261
HP:0011442	Abnormal central motor function	6309	SC5D	ORPHA:46059
HP:0011442	Abnormal central motor function	785	CACNB4	OMIM:613855
HP:0011442	Abnormal central motor function	785	CACNB4	OMIM:607682
HP:0011442	Abnormal central motor function	55624	POMGNT1	OMIM:253280
HP:0011442	Abnormal central motor function	132158	GLYCTK	ORPHA:941
HP:0011442	Abnormal central motor function	132158	GLYCTK	OMIM:220120
HP:0011442	Abnormal central motor function	2731	GLDC	OMIM:605899
HP:0011442	Abnormal central motor function	275	AMT	OMIM:605899
HP:0011442	Abnormal central motor function	54982	CLN6	OMIM:204300
HP:0011442	Abnormal central motor function	10501	SEMA6B	OMIM:618876
HP:0011442	Abnormal central motor function	55163	PNPO	ORPHA:79096
HP:0011442	Abnormal central motor function	55163	PNPO	OMIM:610090
HP:0011442	Abnormal central motor function	3781	KCNN2	OMIM:619724
HP:0011442	Abnormal central motor function	3781	KCNN2	OMIM:619725
HP:0011442	Abnormal central motor function	1476	CSTB	OMIM:254800
HP:0011442	Abnormal central motor function	1476	CSTB	ORPHA:308
HP:0011442	Abnormal central motor function	5290	PIK3CA	ORPHA:99802
HP:0011442	Abnormal central motor function	2475	MTOR	ORPHA:99802
HP:0011442	Abnormal central motor function	10000	AKT3	ORPHA:99802
HP:0011442	Abnormal central motor function	4884	NPTX1	OMIM:620158
HP:0011442	Abnormal central motor function	63982	ANO3	ORPHA:420485
HP:0011442	Abnormal central motor function	79693	YRDC	OMIM:619609
HP:0011442	Abnormal central motor function	84992	PIGY	ORPHA:247262
HP:0011442	Abnormal central motor function	84720	PIGO	ORPHA:247262
HP:0011442	Abnormal central motor function	93210	PGAP3	ORPHA:247262
HP:0011442	Abnormal central motor function	284098	PIGW	ORPHA:247262
HP:0011442	Abnormal central motor function	27315	PGAP2	ORPHA:247262
HP:0011442	Abnormal central motor function	9487	PIGL	ORPHA:247262
HP:0011442	Abnormal central motor function	535	ATP6V0A1	OMIM:619971
HP:0011442	Abnormal central motor function	100131801	PET100	OMIM:619055
HP:0011442	Abnormal central motor function	3899	AFF3	OMIM:619297
HP:0011442	Abnormal central motor function	55037	PTCD3	OMIM:619057
HP:0011442	Abnormal central motor function	54675	CRLS1	OMIM:620167
HP:0011442	Abnormal central motor function	1327	COX4I1	OMIM:619060
HP:0011442	Abnormal central motor function	10715	CERS1	OMIM:616230
HP:0011442	Abnormal central motor function	2562	GABRB3	ORPHA:2382
HP:0011442	Abnormal central motor function	5602	MAPK10	ORPHA:2382
HP:0011442	Abnormal central motor function	4558	MT-TF	OMIM:545000
HP:0011442	Abnormal central motor function	4558	MT-TF	ORPHA:550
HP:0011442	Abnormal central motor function	4567	MT-TL1	OMIM:545000
HP:0011442	Abnormal central motor function	4567	MT-TL1	ORPHA:550
HP:0011442	Abnormal central motor function	4571	MT-TP	OMIM:545000
HP:0011442	Abnormal central motor function	4566	MT-TK	OMIM:545000
HP:0011442	Abnormal central motor function	4565	MT-TI	OMIM:545000
HP:0011442	Abnormal central motor function	388962	BOLA3	OMIM:614299
HP:0011442	Abnormal central motor function	1201	CLN3	OMIM:204200
HP:0011442	Abnormal central motor function	84342	COG8	ORPHA:95428
HP:0011442	Abnormal central motor function	950	SCARB2	OMIM:254900
HP:0011442	Abnormal central motor function	950	SCARB2	ORPHA:308
HP:0011442	Abnormal central motor function	84138	SLC7A6OS	OMIM:619191
HP:0011442	Abnormal central motor function	8021	NUP214	OMIM:618426
HP:0011442	Abnormal central motor function	1822	ATN1	ORPHA:101
HP:0011442	Abnormal central motor function	1822	ATN1	OMIM:125370
HP:0011442	Abnormal central motor function	2904	GRIN2B	OMIM:616139
HP:0011442	Abnormal central motor function	2904	GRIN2B	ORPHA:3451
HP:0011442	Abnormal central motor function	221692	PHACTR1	ORPHA:3451
HP:0011442	Abnormal central motor function	6487	ST3GAL3	ORPHA:3451
HP:0011442	Abnormal central motor function	10695	CNPY3	ORPHA:3451
HP:0011442	Abnormal central motor function	23236	PLCB1	ORPHA:3451
HP:0011442	Abnormal central motor function	6709	SPTAN1	ORPHA:3451
HP:0011442	Abnormal central motor function	60558	GUF1	ORPHA:3451
HP:0011442	Abnormal central motor function	60558	GUF1	OMIM:617065
HP:0011442	Abnormal central motor function	3662	IRF4	ORPHA:3452
HP:0011442	Abnormal central motor function	55739	NAXD	OMIM:618321
HP:0011442	Abnormal central motor function	55275	VPS53	OMIM:615851
HP:0011442	Abnormal central motor function	23219	FBXO28	OMIM:619777
HP:0011442	Abnormal central motor function	5664	PSEN2	ORPHA:1020
HP:0011442	Abnormal central motor function	10452	TOMM40	ORPHA:1020
HP:0011442	Abnormal central motor function	351	APP	ORPHA:1020
HP:0011442	Abnormal central motor function	351	APP	ORPHA:324708
HP:0011442	Abnormal central motor function	10347	ABCA7	ORPHA:1020
HP:0011442	Abnormal central motor function	6653	SORL1	ORPHA:1020
HP:0011442	Abnormal central motor function	3752	KCND3	OMIM:607346
HP:0011442	Abnormal central motor function	85440	DOCK7	OMIM:615859
HP:0011442	Abnormal central motor function	85440	DOCK7	ORPHA:411986
HP:0011442	Abnormal central motor function	114327	EFHC1	ORPHA:1941
HP:0011442	Abnormal central motor function	84978	FRMD5	OMIM:620094
HP:0011442	Abnormal central motor function	27247	NFU1	OMIM:605711
HP:0011442	Abnormal central motor function	80331	DNAJC5	OMIM:162350
HP:0011442	Abnormal central motor function	3980	LIG3	OMIM:619780
HP:0011442	Abnormal central motor function	79734	KCTD17	OMIM:616398
HP:0011442	Abnormal central motor function	79734	KCTD17	ORPHA:36899
HP:0011442	Abnormal central motor function	4572	MT-TQ	ORPHA:550
HP:0011442	Abnormal central motor function	4512	MT-CO1	ORPHA:550
HP:0011442	Abnormal central motor function	4513	MT-CO2	ORPHA:550
HP:0011442	Abnormal central motor function	4514	MT-CO3	ORPHA:550
HP:0011442	Abnormal central motor function	4578	MT-TW	ORPHA:550
HP:0011442	Abnormal central motor function	4540	MT-ND5	ORPHA:550
HP:0011442	Abnormal central motor function	4541	MT-ND6	ORPHA:550
HP:0011442	Abnormal central motor function	4535	MT-ND1	ORPHA:550
HP:0011442	Abnormal central motor function	4538	MT-ND4	ORPHA:550
HP:0011442	Abnormal central motor function	4574	MT-TS1	ORPHA:550
HP:0011442	Abnormal central motor function	4575	MT-TS2	ORPHA:550
HP:0011442	Abnormal central motor function	4564	MT-TH	ORPHA:550
HP:0011442	Abnormal central motor function	4723	NDUFV1	OMIM:618225
HP:0011442	Abnormal central motor function	29968	PSAT1	OMIM:610992
HP:0011442	Abnormal central motor function	29968	PSAT1	ORPHA:284417
HP:0011442	Abnormal central motor function	91869	RFT1	OMIM:612015
HP:0011442	Abnormal central motor function	8869	ST3GAL5	OMIM:609056
HP:0011442	Abnormal central motor function	4694	NDUFA1	OMIM:301020
HP:0011442	Abnormal central motor function	3192	HNRNPU	OMIM:617391
HP:0011442	Abnormal central motor function	25915	NDUFAF3	OMIM:618240
HP:0011442	Abnormal central motor function	8604	SLC25A12	OMIM:612949
HP:0011442	Abnormal central motor function	1813	DRD2	ORPHA:36899
HP:0011442	Abnormal central motor function	51300	TIMMDC1	OMIM:618251
HP:0011442	Abnormal central motor function	8802	SUCLG1	ORPHA:17
HP:0011442	Abnormal central motor function	6611	SMS	ORPHA:3063
HP:0011442	Abnormal central motor function	11212	PLPBP	OMIM:617290
HP:0011442	Abnormal central motor function	11019	LIAS	OMIM:614462
HP:0011442	Abnormal central motor function	56978	PRDM8	OMIM:616640
HP:0011442	Abnormal central motor function	56978	PRDM8	ORPHA:324290
HP:0011442	Abnormal central motor function	4361	MRE11	ORPHA:251347
HP:0011442	Abnormal central motor function	378884	NHLRC1	ORPHA:501
HP:0011442	Abnormal central motor function	378884	NHLRC1	OMIM:254780
HP:0011442	Abnormal central motor function	7957	EPM2A	ORPHA:501
HP:0011442	Abnormal central motor function	7957	EPM2A	OMIM:254780
HP:0011442	Abnormal central motor function	526	ATP6V1B2	ORPHA:79500
HP:0011442	Abnormal central motor function	151	ADRA2B	ORPHA:86814
HP:0011442	Abnormal central motor function	1501	CTNND2	ORPHA:86814
HP:0011442	Abnormal central motor function	374354	NHLRC2	OMIM:618278
HP:0011442	Abnormal central motor function	9326	ZNHIT3	OMIM:260565
HP:0011442	Abnormal central motor function	55145	THAP1	OMIM:602629
HP:0011442	Abnormal central motor function	55704	CCDC88A	OMIM:617507
HP:0011442	Abnormal central motor function	777	CACNA1E	OMIM:618285
HP:0011442	Abnormal central motor function	84823	LMNB2	OMIM:616540
HP:0011442	Abnormal central motor function	5538	PPT1	OMIM:256730
HP:0011442	Abnormal central motor function	4668	NAGA	OMIM:609241
HP:0011442	Abnormal central motor function	4668	NAGA	ORPHA:79279
HP:0011442	Abnormal central motor function	55005	RMND1	OMIM:614922
HP:0011442	Abnormal central motor function	79583	TMEM231	ORPHA:2752
HP:0011442	Abnormal central motor function	9907	AP5Z1	ORPHA:306511
HP:0011442	Abnormal central motor function	8996	NOL3	OMIM:614937
HP:0011442	Abnormal central motor function	26275	HIBCH	OMIM:250620
HP:0011442	Abnormal central motor function	401474	SAMD12	OMIM:601068
HP:0011442	Abnormal central motor function	10128	LRPPRC	OMIM:220111
HP:0011442	Abnormal central motor function	7528	YY1	ORPHA:506358
HP:0011442	Abnormal central motor function	7528	YY1	OMIM:617557
HP:0011442	Abnormal central motor function	7528	YY1	ORPHA:97279
HP:0011442	Abnormal central motor function	8450	CUL4B	OMIM:300354
HP:0011442	Abnormal central motor function	8450	CUL4B	ORPHA:85293
HP:0011442	Abnormal central motor function	1161	ERCC8	ORPHA:90321
HP:0011442	Abnormal central motor function	1161	ERCC8	OMIM:216400
HP:0011442	Abnormal central motor function	2072	ERCC4	ORPHA:90321
HP:0011442	Abnormal central motor function	2072	ERCC4	OMIM:278760
HP:0011442	Abnormal central motor function	64324	NSD1	ORPHA:821
HP:0011442	Abnormal central motor function	29072	SETD2	ORPHA:821
HP:0011442	Abnormal central motor function	10297	APC2	ORPHA:821
HP:0011442	Abnormal central motor function	65993	MRPS34	OMIM:617664
HP:0011442	Abnormal central motor function	56997	COQ8A	ORPHA:139485
HP:0011442	Abnormal central motor function	56997	COQ8A	OMIM:612016
HP:0011442	Abnormal central motor function	23322	RPGRIP1L	ORPHA:220497
HP:0011442	Abnormal central motor function	23322	RPGRIP1L	ORPHA:1454
HP:0011442	Abnormal central motor function	4867	NPHP1	ORPHA:220497
HP:0011442	Abnormal central motor function	65062	TMEM237	ORPHA:220497
HP:0011442	Abnormal central motor function	65062	TMEM237	ORPHA:475
HP:0011442	Abnormal central motor function	101060691	NUTM2B-AS1	OMIM:618637
HP:0011442	Abnormal central motor function	55689	YEATS2	OMIM:615127
HP:0011442	Abnormal central motor function	472	ATM	OMIM:208900
HP:0011442	Abnormal central motor function	472	ATM	ORPHA:100
HP:0011442	Abnormal central motor function	54806	AHI1	ORPHA:220493
HP:0011442	Abnormal central motor function	54806	AHI1	ORPHA:475
HP:0011442	Abnormal central motor function	56623	INPP5E	ORPHA:220493
HP:0011442	Abnormal central motor function	56623	INPP5E	ORPHA:475
HP:0011442	Abnormal central motor function	56623	INPP5E	ORPHA:1454
HP:0011442	Abnormal central motor function	153241	CEP120	ORPHA:220493
HP:0011442	Abnormal central motor function	153241	CEP120	ORPHA:475
HP:0011442	Abnormal central motor function	54903	MKS1	ORPHA:220493
HP:0011442	Abnormal central motor function	54903	MKS1	ORPHA:475
HP:0011442	Abnormal central motor function	95681	CEP41	ORPHA:220493
HP:0011442	Abnormal central motor function	95681	CEP41	ORPHA:475
HP:0011442	Abnormal central motor function	23600	AMACR	ORPHA:79095
HP:0011442	Abnormal central motor function	23600	AMACR	OMIM:614307
HP:0011442	Abnormal central motor function	2911	GRM1	OMIM:614831
HP:0011442	Abnormal central motor function	4758	NEU1	ORPHA:812
HP:0011442	Abnormal central motor function	1600	DAB1	ORPHA:363710
HP:0011442	Abnormal central motor function	1600	DAB1	OMIM:615945
HP:0011442	Abnormal central motor function	55154	MSTO1	OMIM:617675
HP:0011442	Abnormal central motor function	55154	MSTO1	ORPHA:502423
HP:0011442	Abnormal central motor function	9692	PRORP	OMIM:619737
HP:0011442	Abnormal central motor function	29967	LRP12	OMIM:164310
HP:0011442	Abnormal central motor function	7276	TTR	OMIM:105210
HP:0011442	Abnormal central motor function	7466	WFS1	OMIM:222300
HP:0011442	Abnormal central motor function	80856	LNPK	OMIM:618090
HP:0011442	Abnormal central motor function	54968	TMEM70	OMIM:614052
HP:0011442	Abnormal central motor function	54840	APTX	OMIM:208920
HP:0011442	Abnormal central motor function	54832	VPS13C	ORPHA:2828
HP:0011442	Abnormal central motor function	65018	PINK1	ORPHA:2828
HP:0011442	Abnormal central motor function	5071	PRKN	ORPHA:2828
HP:0011442	Abnormal central motor function	5071	PRKN	OMIM:600116
HP:0011442	Abnormal central motor function	3737	KCNA2	ORPHA:442835
HP:0011442	Abnormal central motor function	3737	KCNA2	OMIM:616366
HP:0011442	Abnormal central motor function	1759	DNM1	ORPHA:442835
HP:0011442	Abnormal central motor function	8120	AP3B2	ORPHA:442835
HP:0011442	Abnormal central motor function	523	ATP6V1A	ORPHA:442835
HP:0011442	Abnormal central motor function	10991	SLC38A3	ORPHA:442835
HP:0011442	Abnormal central motor function	51343	FZR1	ORPHA:442835
HP:0011442	Abnormal central motor function	2561	GABRB2	ORPHA:442835
HP:0011442	Abnormal central motor function	8831	SYNGAP1	ORPHA:442835
HP:0011442	Abnormal central motor function	8831	SYNGAP1	ORPHA:1942
HP:0011442	Abnormal central motor function	8831	SYNGAP1	ORPHA:544254
HP:0011442	Abnormal central motor function	7532	YWHAG	ORPHA:442835
HP:0011442	Abnormal central motor function	6328	SCN3A	ORPHA:442835
HP:0011442	Abnormal central motor function	2558	GABRA5	ORPHA:442835
HP:0011442	Abnormal central motor function	781	CACNA2D1	ORPHA:442835
HP:0011442	Abnormal central motor function	2906	GRIN2D	ORPHA:442835
HP:0011442	Abnormal central motor function	2906	GRIN2D	OMIM:617162
HP:0011442	Abnormal central motor function	116150	NUS1	ORPHA:442835
HP:0011442	Abnormal central motor function	116150	NUS1	OMIM:617831
HP:0011442	Abnormal central motor function	10659	CELF2	ORPHA:442835
HP:0011442	Abnormal central motor function	10659	CELF2	OMIM:619561
HP:0011442	Abnormal central motor function	774	CACNA1B	ORPHA:442835
HP:0011442	Abnormal central motor function	23334	SZT2	ORPHA:442835
HP:0011442	Abnormal central motor function	51412	ACTL6B	ORPHA:442835
HP:0011442	Abnormal central motor function	3745	KCNB1	ORPHA:442835
HP:0011442	Abnormal central motor function	284111	SLC13A5	ORPHA:442835
HP:0011442	Abnormal central motor function	25977	NECAP1	ORPHA:442835
HP:0011442	Abnormal central motor function	22866	CNKSR2	ORPHA:442835
HP:0011442	Abnormal central motor function	55152	DALRD3	ORPHA:442835
HP:0011442	Abnormal central motor function	26999	CYFIP2	ORPHA:442835
HP:0011442	Abnormal central motor function	4915	NTRK2	ORPHA:442835
HP:0011442	Abnormal central motor function	23097	CDK19	ORPHA:442835
HP:0011442	Abnormal central motor function	64801	ARV1	ORPHA:442835
HP:0011442	Abnormal central motor function	79947	DHDDS	ORPHA:442835
HP:0011442	Abnormal central motor function	79947	DHDDS	OMIM:617836
HP:0011442	Abnormal central motor function	2257	FGF12	ORPHA:442835
HP:0011442	Abnormal central motor function	5530	PPP3CA	ORPHA:442835
HP:0011442	Abnormal central motor function	10382	TUBB4A	OMIM:612438
HP:0011442	Abnormal central motor function	5230	PGK1	ORPHA:713
HP:0011442	Abnormal central motor function	5373	PMM2	OMIM:212065
HP:0011442	Abnormal central motor function	79600	TCTN1	ORPHA:475
HP:0011442	Abnormal central motor function	79848	CSPP1	ORPHA:475
HP:0011442	Abnormal central motor function	51684	SUFU	ORPHA:475
HP:0011442	Abnormal central motor function	91147	TMEM67	ORPHA:475
HP:0011442	Abnormal central motor function	91147	TMEM67	ORPHA:1454
HP:0011442	Abnormal central motor function	200894	ARL13B	ORPHA:475
HP:0011442	Abnormal central motor function	9731	CEP104	ORPHA:475
HP:0011442	Abnormal central motor function	219844	HYLS1	ORPHA:475
HP:0011442	Abnormal central motor function	23247	KATNIP	ORPHA:475
HP:0011442	Abnormal central motor function	219854	TMEM218	ORPHA:475
HP:0011442	Abnormal central motor function	9786	KIAA0586	ORPHA:475
HP:0011442	Abnormal central motor function	79867	TCTN2	ORPHA:475
HP:0011442	Abnormal central motor function	80776	B9D2	ORPHA:475
HP:0011442	Abnormal central motor function	10464	PIBF1	ORPHA:475
HP:0011442	Abnormal central motor function	80210	ARMC9	ORPHA:475
HP:0011442	Abnormal central motor function	23116	TOGARAM1	ORPHA:475
HP:0011442	Abnormal central motor function	25776	CBY1	ORPHA:475
HP:0011442	Abnormal central motor function	27077	B9D1	ORPHA:475
HP:0011442	Abnormal central motor function	403	ARL3	ORPHA:475
HP:0011442	Abnormal central motor function	339453	TMEM240	ORPHA:98773
HP:0011442	Abnormal central motor function	1798	DPAGT1	ORPHA:86309
HP:0011442	Abnormal central motor function	1798	DPAGT1	OMIM:608093
HP:0011442	Abnormal central motor function	6804	STX1A	ORPHA:904
HP:0011442	Abnormal central motor function	7461	CLIP2	ORPHA:904
HP:0011442	Abnormal central motor function	84277	DNAJC30	ORPHA:904
HP:0011442	Abnormal central motor function	8468	FKBP6	ORPHA:904
HP:0011442	Abnormal central motor function	5982	RFC2	ORPHA:904
HP:0011442	Abnormal central motor function	2969	GTF2I	ORPHA:904
HP:0011442	Abnormal central motor function	3984	LIMK1	ORPHA:904
HP:0011442	Abnormal central motor function	9569	GTF2IRD1	ORPHA:904
HP:0011442	Abnormal central motor function	155382	VPS37D	ORPHA:904
HP:0011442	Abnormal central motor function	155368	METTL27	ORPHA:904
HP:0011442	Abnormal central motor function	114049	BUD23	ORPHA:904
HP:0011442	Abnormal central motor function	7458	EIF4H	ORPHA:904
HP:0011442	Abnormal central motor function	84163	GTF2IRD2	ORPHA:904
HP:0011442	Abnormal central motor function	9275	BCL7B	ORPHA:904
HP:0011442	Abnormal central motor function	26608	TBL2	ORPHA:904
HP:0011442	Abnormal central motor function	653361	NCF1	ORPHA:904
HP:0011442	Abnormal central motor function	135886	TMEM270	ORPHA:904
HP:0011442	Abnormal central motor function	9031	BAZ1B	ORPHA:904
HP:0011442	Abnormal central motor function	7701	ZNF142	OMIM:618425
HP:0011442	Abnormal central motor function	2073	ERCC5	OMIM:278780
HP:0011442	Abnormal central motor function	60481	ELOVL5	OMIM:615957
HP:0011442	Abnormal central motor function	60481	ELOVL5	ORPHA:423296
HP:0011442	Abnormal central motor function	5582	PRKCG	ORPHA:98763
HP:0011442	Abnormal central motor function	2259	FGF14	ORPHA:98764
HP:0011442	Abnormal central motor function	166785	MMAA	OMIM:251100
HP:0011442	Abnormal central motor function	3208	HPCA	OMIM:224500
HP:0011442	Abnormal central motor function	3208	HPCA	ORPHA:99657
HP:0011442	Abnormal central motor function	4644	MYO5A	ORPHA:33445
HP:0011442	Abnormal central motor function	9533	POLR1C	OMIM:616494
HP:0011442	Abnormal central motor function	8733	GPAA1	ORPHA:529665
HP:0011442	Abnormal central motor function	8733	GPAA1	OMIM:617810
HP:0011442	Abnormal central motor function	5205	ATP8B1	ORPHA:69665
HP:0011442	Abnormal central motor function	8647	ABCB11	ORPHA:69665
HP:0011442	Abnormal central motor function	5244	ABCB4	ORPHA:69665
HP:0011442	Abnormal central motor function	9971	NR1H4	ORPHA:69665
HP:0011442	Abnormal central motor function	1356	CP	ORPHA:48818
HP:0011442	Abnormal central motor function	146227	BEAN1	ORPHA:217012
HP:0011442	Abnormal central motor function	11152	WDR45	OMIM:300894
HP:0011442	Abnormal central motor function	11152	WDR45	ORPHA:329284
HP:0011442	Abnormal central motor function	4677	NARS1	OMIM:619092
HP:0011442	Abnormal central motor function	8813	DPM1	OMIM:608799
HP:0011442	Abnormal central motor function	9147	NEMF	OMIM:619099
HP:0011442	Abnormal central motor function	388662	SLC6A17	OMIM:616269
HP:0011442	Abnormal central motor function	2678	GGT1	OMIM:231950
HP:0011442	Abnormal central motor function	10165	SLC25A13	ORPHA:247585
HP:0011442	Abnormal central motor function	1384	CRAT	OMIM:617917
HP:0011442	Abnormal central motor function	85021	REPS1	OMIM:617916
HP:0011442	Abnormal central motor function	1173	AP2M1	ORPHA:1942
HP:0011442	Abnormal central motor function	1173	AP2M1	OMIM:618587
HP:0011442	Abnormal central motor function	1106	CHD2	ORPHA:1942
HP:0011442	Abnormal central motor function	10533	ATG7	OMIM:619422
HP:0011442	Abnormal central motor function	4633	MYL2	OMIM:619424
HP:0011442	Abnormal central motor function	2702	GJA5	OMIM:612474
HP:0011442	Abnormal central motor function	2703	GJA8	OMIM:612474
HP:0011442	Abnormal central motor function	9445	ITM2B	OMIM:176500
HP:0011442	Abnormal central motor function	57410	SCYL1	OMIM:616719
HP:0011442	Abnormal central motor function	10535	RNASEH2A	ORPHA:51
HP:0011442	Abnormal central motor function	84153	RNASEH2C	ORPHA:51
HP:0011442	Abnormal central motor function	25939	SAMHD1	ORPHA:51
HP:0011442	Abnormal central motor function	79621	RNASEH2B	ORPHA:51
HP:0011442	Abnormal central motor function	11277	TREX1	ORPHA:51
HP:0011442	Abnormal central motor function	100147744	RNU7-1	ORPHA:51
HP:0011442	Abnormal central motor function	134353	LSM11	ORPHA:51
HP:0011442	Abnormal central motor function	9091	PIGQ	ORPHA:1934
HP:0011442	Abnormal central motor function	81603	TRIM8	ORPHA:1934
HP:0011442	Abnormal central motor function	79751	SLC25A22	ORPHA:1934
HP:0011442	Abnormal central motor function	150094	SIK1	ORPHA:1934
HP:0011442	Abnormal central motor function	8573	CASK	ORPHA:1934
HP:0011442	Abnormal central motor function	23312	DMXL2	ORPHA:1934
HP:0011442	Abnormal central motor function	2917	GRM7	ORPHA:1934
HP:0011442	Abnormal central motor function	11284	PNKP	ORPHA:1934
HP:0011442	Abnormal central motor function	51227	PIGP	ORPHA:1934
HP:0011442	Abnormal central motor function	4761	NEUROD2	ORPHA:1934
HP:0011442	Abnormal central motor function	10371	SEMA3A	ORPHA:478
HP:0011442	Abnormal central motor function	81848	SPRY4	ORPHA:478
HP:0011442	Abnormal central motor function	23767	FLRT3	ORPHA:478
HP:0011442	Abnormal central motor function	128674	PROKR2	ORPHA:478
HP:0011442	Abnormal central motor function	79625	NDNF	ORPHA:478
HP:0011442	Abnormal central motor function	2253	FGF8	ORPHA:478
HP:0011442	Abnormal central motor function	389549	FEZF1	ORPHA:478
HP:0011442	Abnormal central motor function	3730	ANOS1	ORPHA:478
HP:0011442	Abnormal central motor function	54756	IL17RD	ORPHA:478
HP:0011442	Abnormal central motor function	6663	SOX10	ORPHA:478
HP:0011442	Abnormal central motor function	285025	CCDC141	ORPHA:478
HP:0011442	Abnormal central motor function	60675	PROK2	ORPHA:478
HP:0011442	Abnormal central motor function	55636	CHD7	ORPHA:478
HP:0011442	Abnormal central motor function	1848	DUSP6	ORPHA:478
HP:0011442	Abnormal central motor function	6870	TACR3	ORPHA:478
HP:0011442	Abnormal central motor function	55717	WDR11	ORPHA:478
HP:0011442	Abnormal central motor function	9394	HS6ST1	ORPHA:478
HP:0011442	Abnormal central motor function	8820	HESX1	ORPHA:478
HP:0011442	Abnormal central motor function	8822	FGF17	ORPHA:478
HP:0011442	Abnormal central motor function	291	SLC25A4	ORPHA:254892
HP:0011442	Abnormal central motor function	11232	POLG2	ORPHA:254892
HP:0011442	Abnormal central motor function	50484	RRM2B	ORPHA:254892
HP:0011442	Abnormal central motor function	353116	RILPL1	OMIM:619790
HP:0011442	Abnormal central motor function	6134	RPL10	OMIM:300998
HP:0011442	Abnormal central motor function	23013	SPEN	OMIM:619312
HP:0011442	Abnormal central motor function	30000	TNPO2	OMIM:619556
HP:0011442	Abnormal central motor function	54517	PUS7	OMIM:618342
HP:0011442	Abnormal central motor function	4311	MME	OMIM:617018
HP:0011442	Abnormal central motor function	10102	TSFM	OMIM:610505
HP:0011442	Abnormal central motor function	10312	TCIRG1	ORPHA:667
HP:0011442	Abnormal central motor function	1186	CLCN7	ORPHA:667
HP:0011442	Abnormal central motor function	29887	SNX10	ORPHA:667
HP:0011442	Abnormal central motor function	8600	TNFSF11	ORPHA:667
HP:0011442	Abnormal central motor function	440193	CCDC88C	OMIM:616053
HP:0011442	Abnormal central motor function	5160	PDHA1	OMIM:312170
HP:0011442	Abnormal central motor function	6900	CNTN2	OMIM:615400
HP:0011442	Abnormal central motor function	11093	ADAMTS13	OMIM:274150
HP:0011442	Abnormal central motor function	4948	OCA2	ORPHA:98794
HP:0011442	Abnormal central motor function	1491	CTH	ORPHA:212
HP:0011442	Abnormal central motor function	51132	RLIM	OMIM:300978
HP:0011442	Abnormal central motor function	3746	KCNC1	OMIM:616187
HP:0011442	Abnormal central motor function	8622	PDE8B	OMIM:609161
HP:0011442	Abnormal central motor function	6898	TAT	ORPHA:28378
HP:0011442	Abnormal central motor function	3172	HNF4A	ORPHA:263455
HP:0011442	Abnormal central motor function	8091	HMGA2	ORPHA:94063
HP:0011442	Abnormal central motor function	23592	LEMD3	ORPHA:94063
HP:0011442	Abnormal central motor function	55630	SLC39A4	OMIM:201100
HP:0011442	Abnormal central motor function	9758	FRMPD4	OMIM:300983
HP:0011442	Abnormal central motor function	64072	CDH23	ORPHA:91347
HP:0011442	Abnormal central motor function	57545	CC2D2A	ORPHA:1454
HP:0011442	Abnormal central motor function	6304	SATB1	OMIM:619229
HP:0011442	Abnormal central motor function	57187	THOC2	ORPHA:457240
HP:0011442	Abnormal central motor function	57187	THOC2	OMIM:300957
HP:0011442	Abnormal central motor function	7138	TNNT1	OMIM:605355
HP:0011442	Abnormal central motor function	7138	TNNT1	ORPHA:98902
HP:0011442	Abnormal central motor function	54658	UGT1A1	ORPHA:79234
HP:0011442	Abnormal central motor function	84065	TMEM222	OMIM:619470
HP:0011442	Abnormal central motor function	65260	COA7	OMIM:618387
HP:0011442	Abnormal central motor function	6812	STXBP1	OMIM:612164
HP:0011442	Abnormal central motor function	4221	MEN1	ORPHA:97279
HP:0011442	Abnormal central motor function	56910	STARD7	OMIM:607876
HP:0011442	Abnormal central motor function	7204	TRIO	OMIM:617061
HP:0011442	Abnormal central motor function	7204	TRIO	ORPHA:476126
HP:0011442	Abnormal central motor function	6182	MRPL12	OMIM:618951
HP:0011442	Abnormal central motor function	4780	NFE2L2	OMIM:617744
HP:0011442	Abnormal central motor function	54676	GTPBP2	OMIM:617988
HP:0011442	Abnormal central motor function	84628	NTNG2	OMIM:618718
HP:0011442	Abnormal central motor function	1650	DDOST	ORPHA:300536
HP:0011442	Abnormal central motor function	940	CD28	ORPHA:3162
HP:0011442	Abnormal central motor function	7133	TNFRSF1B	ORPHA:3162
HP:0011442	Abnormal central motor function	5805	PTS	OMIM:261640
HP:0011442	Abnormal central motor function	119559	SFXN4	OMIM:615578
HP:0011442	Abnormal central motor function	8481	OFD1	ORPHA:2750
HP:0011442	Abnormal central motor function	8481	OFD1	ORPHA:2754
HP:0011442	Abnormal central motor function	55074	OXR1	OMIM:213000
HP:0011442	Abnormal central motor function	10210	TOPORS	ORPHA:2754
HP:0011442	Abnormal central motor function	9851	KIAA0753	ORPHA:2754
HP:0011442	Abnormal central motor function	26123	TCTN3	ORPHA:2754
HP:0011442	Abnormal central motor function	5147	PDE6D	ORPHA:2754
HP:0011442	Abnormal central motor function	51259	TMEM216	ORPHA:2754
HP:0011442	Abnormal central motor function	317662	FAM149B1	ORPHA:2754
HP:0011442	Abnormal central motor function	374654	KIF7	ORPHA:2754
HP:0011442	Abnormal central motor function	55532	SLC30A10	OMIM:613280
HP:0011442	Abnormal central motor function	5860	QDPR	OMIM:261630
HP:0011442	Abnormal central motor function	84274	COQ5	OMIM:619028
HP:0011442	Abnormal central motor function	8910	SGCE	OMIM:159900
HP:0011442	Abnormal central motor function	9570	GOSR2	OMIM:614018
HP:0011442	Abnormal central motor function	2747	GLUD2	OMIM:168600
HP:0011442	Abnormal central motor function	126	ADH1C	OMIM:168600
HP:0011442	Abnormal central motor function	6908	TBP	OMIM:168600
HP:0011442	Abnormal central motor function	4576	MT-TT	OMIM:168600
HP:0011442	Abnormal central motor function	9627	SNCAIP	OMIM:168600
HP:0011442	Abnormal central motor function	10299	MARCHF6	OMIM:613608
HP:0011442	Abnormal central motor function	25974	MMACHC	OMIM:277400
HP:0011442	Abnormal central motor function	5052	PRDX1	OMIM:277400
HP:0011442	Abnormal central motor function	9990	SLC12A6	OMIM:218000
HP:0011442	Abnormal central motor function	22868	FASTKD2	OMIM:618855
HP:0011442	Abnormal central motor function	9361	LONP1	OMIM:600373
HP:0011442	Abnormal central motor function	54332	GDAP1	OMIM:607706
HP:0011442	Abnormal central motor function	54332	GDAP1	ORPHA:99948
HP:0011442	Abnormal central motor function	54332	GDAP1	ORPHA:101097
HP:0011442	Abnormal central motor function	57716	PRX	OMIM:614895
HP:0011442	Abnormal central motor function	59341	TRPV4	OMIM:606071
HP:0011442	Abnormal central motor function	79628	SH3TC2	ORPHA:99949
HP:0011442	Abnormal central motor function	10755	GIPC1	ORPHA:98897
HP:0011442	Abnormal central motor function	5376	PMP22	OMIM:162500
HP:0011442	Abnormal central motor function	5376	PMP22	ORPHA:640
HP:0011442	Abnormal central motor function	7125	TNNC2	OMIM:620161
HP:0011442	Abnormal central motor function	60482	SLC5A7	OMIM:158580
HP:0011442	Abnormal central motor function	79784	MYH14	ORPHA:397744
HP:0011442	Abnormal central motor function	23321	TRIM2	OMIM:615490
HP:0011442	Abnormal central motor function	112	ADCY6	OMIM:616287
HP:0011442	Abnormal central motor function	22943	DKK1	ORPHA:268882
HP:0011442	Abnormal central motor function	816	CAMK2B	OMIM:617799
HP:0011442	Abnormal central motor function	7428	VHL	ORPHA:29072
HP:0011442	Abnormal central motor function	7428	VHL	ORPHA:276621
HP:0011442	Abnormal central motor function	1743	DLST	ORPHA:29072
HP:0011442	Abnormal central motor function	4191	MDH2	ORPHA:29072
HP:0011442	Abnormal central motor function	5979	RET	ORPHA:29072
HP:0011442	Abnormal central motor function	5979	RET	ORPHA:276621
HP:0011442	Abnormal central motor function	6389	SDHA	ORPHA:29072
HP:0011442	Abnormal central motor function	23095	KIF1B	ORPHA:29072
HP:0011442	Abnormal central motor function	2271	FH	ORPHA:29072
HP:0011442	Abnormal central motor function	8402	SLC25A11	ORPHA:29072
HP:0011442	Abnormal central motor function	54949	SDHAF2	ORPHA:29072
HP:0011442	Abnormal central motor function	54949	SDHAF2	OMIM:601650
HP:0011442	Abnormal central motor function	55654	TMEM127	ORPHA:29072
HP:0011442	Abnormal central motor function	6391	SDHC	ORPHA:29072
HP:0011442	Abnormal central motor function	6391	SDHC	OMIM:605373
HP:0011442	Abnormal central motor function	6392	SDHD	ORPHA:29072
HP:0011442	Abnormal central motor function	6392	SDHD	ORPHA:276621
HP:0011442	Abnormal central motor function	6392	SDHD	OMIM:168000
HP:0011442	Abnormal central motor function	6390	SDHB	ORPHA:29072
HP:0011442	Abnormal central motor function	6390	SDHB	ORPHA:276621
HP:0011442	Abnormal central motor function	4149	MAX	ORPHA:29072
HP:0011442	Abnormal central motor function	1788	DNMT3A	ORPHA:276621
HP:0011442	Abnormal central motor function	2034	EPAS1	ORPHA:276621
HP:0011442	Abnormal central motor function	81846	SBF2	ORPHA:99956
HP:0011442	Abnormal central motor function	2273	FHL1	ORPHA:98863
HP:0011442	Abnormal central motor function	2010	EMD	ORPHA:98863
HP:0011442	Abnormal central motor function	51112	TRAPPC12	ORPHA:500144
HP:0011442	Abnormal central motor function	374879	ZNF699	OMIM:619488
HP:0011442	Abnormal central motor function	4613	MYCN	OMIM:164280
HP:0011442	Abnormal central motor function	113278	SLC52A3	OMIM:211530
HP:0011442	Abnormal central motor function	9927	MFN2	ORPHA:99947
HP:0011442	Abnormal central motor function	51085	MLXIPL	OMIM:194050
HP:0011442	Abnormal central motor function	2006	ELN	OMIM:194050
HP:0011442	Abnormal central motor function	26040	SETBP1	ORPHA:798
HP:0011442	Abnormal central motor function	79188	TMEM43	ORPHA:98853
HP:0011442	Abnormal central motor function	23224	SYNE2	ORPHA:98853
HP:0011442	Abnormal central motor function	4000	LMNA	ORPHA:98853
HP:0011442	Abnormal central motor function	23314	SATB2	ORPHA:251028
HP:0011442	Abnormal central motor function	4953	ODC1	OMIM:619075
HP:0011442	Abnormal central motor function	9354	UBE4A	OMIM:619639
HP:0011442	Abnormal central motor function	22931	RAB18	OMIM:614222
HP:0011442	Abnormal central motor function	79759	ZNF668	OMIM:620194
HP:0011442	Abnormal central motor function	57459	GATAD2B	ORPHA:363686
HP:0011442	Abnormal central motor function	9338	TCEAL1	OMIM:301094
HP:0011442	Abnormal central motor function	57599	WDR48	ORPHA:401800
HP:0011442	Abnormal central motor function	79971	WLS	OMIM:619648
HP:0011442	Abnormal central motor function	9101	USP8	ORPHA:401795
HP:0011442	Abnormal central motor function	64374	SIL1	OMIM:248800
HP:0011442	Abnormal central motor function	4536	MT-ND2	ORPHA:255210
HP:0011442	Abnormal central motor function	4537	MT-ND3	ORPHA:255210
HP:0011442	Abnormal central motor function	80232	WDR26	ORPHA:513456
HP:0011442	Abnormal central motor function	28960	DCPS	OMIM:616459
HP:0011442	Abnormal central motor function	57492	ARID1B	OMIM:135900
HP:0011442	Abnormal central motor function	5528	PPP2R5D	OMIM:616355
HP:0011442	Abnormal central motor function	54872	PIGG	ORPHA:488635
HP:0011442	Abnormal central motor function	9711	RUBCN	OMIM:615705
HP:0011442	Abnormal central motor function	9711	RUBCN	ORPHA:404499
HP:0011442	Abnormal central motor function	5518	PPP2R1A	OMIM:616362
HP:0011442	Abnormal central motor function	55210	ATAD3A	ORPHA:496790
HP:0011442	Abnormal central motor function	2232	FDXR	ORPHA:543470
HP:0011442	Abnormal central motor function	7222	TRPC3	ORPHA:458798
HP:0011442	Abnormal central motor function	7222	TRPC3	OMIM:616410
HP:0011442	Abnormal central motor function	9922	IQSEC1	OMIM:618687
HP:0011442	Abnormal central motor function	1487	CTBP1	OMIM:617915
HP:0011442	Abnormal central motor function	6595	SMARCA2	OMIM:601358
HP:0011442	Abnormal central motor function	5111	PCNA	ORPHA:438134
HP:0011442	Abnormal central motor function	9230	RAB11B	OMIM:617807
HP:0011442	Abnormal central motor function	8905	AP1S2	OMIM:304340
HP:0011442	Abnormal central motor function	54704	PDP1	OMIM:608782
HP:0011442	Abnormal central motor function	8925	HERC1	OMIM:617011
HP:0011442	Abnormal central motor function	8925	HERC1	ORPHA:457359
HP:0011442	Abnormal central motor function	57102	C12orf4	OMIM:618221
HP:0011442	Abnormal central motor function	10765	KDM5B	OMIM:618109
HP:0011442	Abnormal central motor function	23102	TBC1D2B	OMIM:619323
HP:0011442	Abnormal central motor function	4081	MAB21L1	OMIM:618479
HP:0011442	Abnormal central motor function	2891	GRIA2	OMIM:618917
HP:0011442	Abnormal central motor function	5994	RFXAP	ORPHA:572
HP:0011442	Abnormal central motor function	4261	CIITA	ORPHA:572
HP:0011442	Abnormal central motor function	5993	RFX5	ORPHA:572
HP:0011442	Abnormal central motor function	8625	RFXANK	ORPHA:572
HP:0011442	Abnormal central motor function	28982	FLVCR1	ORPHA:88628
HP:0011442	Abnormal central motor function	372	ARCN1	OMIM:617164
HP:0011442	Abnormal central motor function	23395	LARS2	OMIM:615300
HP:0011442	Abnormal central motor function	2065	ERBB3	OMIM:243180
HP:0011442	Abnormal central motor function	5058	PAK1	OMIM:618158
HP:0011442	Abnormal central motor function	9516	LITAF	OMIM:601098
HP:0011442	Abnormal central motor function	5456	POU3F4	ORPHA:1435
HP:0011442	Abnormal central motor function	10479	SLC9A6	ORPHA:85278
HP:0011442	Abnormal central motor function	738	VPS51	OMIM:618606
HP:0011442	Abnormal central motor function	81615	TMEM163	OMIM:620243
HP:0011442	Abnormal central motor function	1795	DOCK3	OMIM:618292
HP:0011442	Abnormal central motor function	129285	PPP1R21	OMIM:619383
HP:0011442	Abnormal central motor function	2196	FAT2	OMIM:617769
HP:0011442	Abnormal central motor function	56521	DNAJC12	OMIM:617384
HP:0011442	Abnormal central motor function	80347	COASY	OMIM:615643
HP:0011442	Abnormal central motor function	27102	EIF2AK1	OMIM:618878
HP:0011442	Abnormal central motor function	1436	CSF1R	OMIM:221820
HP:0011442	Abnormal central motor function	84833	ATP5MK	OMIM:618683
HP:0011442	Abnormal central motor function	84947	SERAC1	OMIM:614739
HP:0011442	Abnormal central motor function	4286	MITF	ORPHA:618
HP:0011442	Abnormal central motor function	1019	CDK4	ORPHA:618
HP:0011442	Abnormal central motor function	4255	MGMT	ORPHA:618
HP:0011442	Abnormal central motor function	54386	TERF2IP	ORPHA:618
HP:0011442	Abnormal central motor function	4157	MC1R	ORPHA:618
HP:0011442	Abnormal central motor function	1029	CDKN2A	ORPHA:618
HP:0011442	Abnormal central motor function	25913	POT1	ORPHA:618
HP:0011442	Abnormal central motor function	1030	CDKN2B	ORPHA:618
HP:0011442	Abnormal central motor function	5309	PITX3	OMIM:610623
HP:0011442	Abnormal central motor function	8291	DYSF	ORPHA:268
HP:0011442	Abnormal central motor function	6844	VAMP2	OMIM:618760
HP:0011442	Abnormal central motor function	7128	TNFAIP3	OMIM:616744
HP:0011442	Abnormal central motor function	39	ACAT2	OMIM:614055
HP:0011442	Abnormal central motor function	51284	TLR7	OMIM:301080
HP:0011442	Abnormal central motor function	7504	XK	OMIM:300842
HP:0011442	Abnormal central motor function	23545	ATP6V0A2	ORPHA:2834
HP:0011442	Abnormal central motor function	2744	GLS	OMIM:618412
HP:0011442	Abnormal central motor function	10466	COG5	ORPHA:263487
HP:0011442	Abnormal central motor function	10466	COG5	OMIM:613612
HP:0011442	Abnormal central motor function	1340	COX6B1	OMIM:619051
HP:0011442	Abnormal central motor function	339983	NAT8L	OMIM:614063
HP:0011442	Abnormal central motor function	83475	DOHH	OMIM:620066
HP:0011442	Abnormal central motor function	22983	MAST1	OMIM:618273
HP:0011442	Abnormal central motor function	53335	BCL11A	OMIM:617101
HP:0011442	Abnormal central motor function	9524	TECR	OMIM:614020
HP:0011442	Abnormal central motor function	775	CACNA1C	OMIM:620029
HP:0011442	Abnormal central motor function	85300	ATCAY	ORPHA:94122
HP:0011442	Abnormal central motor function	85300	ATCAY	OMIM:601238
HP:0011442	Abnormal central motor function	221496	LEMD2	OMIM:619322
HP:0011442	Abnormal central motor function	3766	KCNJ10	OMIM:612780
HP:0011442	Abnormal central motor function	267010	RNU12	OMIM:620208
HP:0011442	Abnormal central motor function	267010	RNU12	ORPHA:512260
HP:0011442	Abnormal central motor function	27010	TPK1	OMIM:614458
HP:0011442	Abnormal central motor function	50801	KCNK4	OMIM:618381
HP:0011442	Abnormal central motor function	56006	SMG9	OMIM:619995
HP:0011442	Abnormal central motor function	4983	OPHN1	ORPHA:137831
HP:0011442	Abnormal central motor function	54499	TMCO1	OMIM:213980
HP:0011442	Abnormal central motor function	5293	PIK3CD	ORPHA:221139
HP:0011442	Abnormal central motor function	90417	KNSTRN	ORPHA:221139
HP:0011442	Abnormal central motor function	54870	QRICH1	OMIM:617982
HP:0011442	Abnormal central motor function	5192	PEX10	OMIM:614871
HP:0011442	Abnormal central motor function	81562	LMAN2L	OMIM:617863
HP:0011442	Abnormal central motor function	3295	HSD17B4	OMIM:233400
HP:0011442	Abnormal central motor function	2937	GSS	OMIM:266130
HP:0011442	Abnormal central motor function	404672	GTF2H5	ORPHA:33364
HP:0011442	Abnormal central motor function	833	CARS1	ORPHA:33364
HP:0011442	Abnormal central motor function	2068	ERCC2	ORPHA:33364
HP:0011442	Abnormal central motor function	7737	RNF113A	ORPHA:33364
HP:0011442	Abnormal central motor function	136647	MPLKIP	ORPHA:33364
HP:0011442	Abnormal central motor function	6897	TARS1	ORPHA:33364
HP:0011442	Abnormal central motor function	2071	ERCC3	ORPHA:33364
HP:0011442	Abnormal central motor function	2961	GTF2E2	ORPHA:33364
HP:0011442	Abnormal central motor function	6342	SCP2	OMIM:613724
HP:0011442	Abnormal central motor function	340024	SLC6A19	OMIM:234500
HP:0011442	Abnormal central motor function	5009	OTC	OMIM:311250
HP:0011442	Abnormal central motor function	4784	NFIX	ORPHA:420179
HP:0011442	Abnormal central motor function	4952	OCRL	ORPHA:534
HP:0011442	Abnormal central motor function	11117	EMILIN1	OMIM:620080
HP:0011442	Abnormal central motor function	4693	NDP	ORPHA:649
HP:0011442	Abnormal central motor function	2801	GOLGA2	OMIM:620240
HP:0011442	Abnormal central motor function	23028	KDM1A	ORPHA:477993
HP:0011442	Abnormal central motor function	2137	EXTL3	ORPHA:508533
HP:0011442	Abnormal central motor function	4702	NDUFA8	OMIM:619272
HP:0011442	Abnormal central motor function	55610	VPS50	OMIM:619685
HP:0011442	Abnormal central motor function	9244	CRLF1	OMIM:272430
HP:0011442	Abnormal central motor function	55906	ZC4H2	OMIM:314580
HP:0011442	Abnormal central motor function	10093	ARPC4	OMIM:620141
HP:0011442	Abnormal central motor function	3767	KCNJ11	ORPHA:99885
HP:0011442	Abnormal central motor function	6774	STAT3	ORPHA:99885
HP:0011442	Abnormal central motor function	3651	PDX1	ORPHA:99885
HP:0011442	Abnormal central motor function	3630	INS	ORPHA:99885
HP:0011442	Abnormal central motor function	6197	RPS6KA3	ORPHA:192
HP:0011442	Abnormal central motor function	129685	TAF8	OMIM:619972
HP:0011442	Abnormal central motor function	10943	MSL3	OMIM:301032
HP:0011442	Abnormal central motor function	1371	CPOX	OMIM:121300
HP:0011442	Abnormal central motor function	23769	FLRT1	ORPHA:320406
HP:0011442	Abnormal central motor function	64837	KLC2	ORPHA:320406
HP:0011442	Abnormal central motor function	64837	KLC2	OMIM:609541
HP:0011442	Abnormal central motor function	3074	HEXB	ORPHA:309155
HP:0011442	Abnormal central motor function	3074	HEXB	OMIM:268800
HP:0011442	Abnormal central motor function	22906	TRAK1	OMIM:618201
HP:0011442	Abnormal central motor function	10588	MTHFS	OMIM:618367
HP:0011442	Abnormal central motor function	440	ASNS	OMIM:615574
HP:0011442	Abnormal central motor function	51501	HIKESHI	OMIM:616881
HP:0011442	Abnormal central motor function	23229	ARHGEF9	ORPHA:163985
HP:0011442	Abnormal central motor function	23229	ARHGEF9	OMIM:300607
HP:0011442	Abnormal central motor function	2218	FKTN	OMIM:253800
HP:0011442	Abnormal central motor function	3073	HEXA	OMIM:272800
HP:0011442	Abnormal central motor function	23258	DENND5A	OMIM:617281
HP:0011442	Abnormal central motor function	7259	TSPYL1	OMIM:608800
HP:0011442	Abnormal central motor function	2760	GM2A	ORPHA:309246
HP:0011442	Abnormal central motor function	2760	GM2A	OMIM:272750
HP:0011442	Abnormal central motor function	7750	ZMYM2	OMIM:619522
HP:0011442	Abnormal central motor function	6647	SOD1	OMIM:618598
HP:0011442	Abnormal central motor function	6536	SLC6A9	OMIM:617301
HP:0011442	Abnormal central motor function	221927	BRAT1	OMIM:618056
HP:0011442	Abnormal central motor function	5813	PURA	ORPHA:438216
HP:0011442	Abnormal central motor function	2893	GRIA4	OMIM:617864
HP:0011442	Abnormal central motor function	23043	TNIK	OMIM:617028
HP:0011442	Abnormal central motor function	2741	GLRA1	OMIM:149400
HP:0011442	Abnormal central motor function	10243	GPHN	OMIM:149400
HP:0011442	Abnormal central motor function	9373	PLAA	ORPHA:521426
HP:0011442	Abnormal central motor function	9373	PLAA	OMIM:617527
HP:0011442	Abnormal central motor function	1644	DDC	OMIM:608643
HP:0011442	Abnormal central motor function	9152	SLC6A5	OMIM:614618
HP:0011442	Abnormal central motor function	8911	CACNA1I	OMIM:620114
HP:0011442	Abnormal central motor function	2720	GLB1	ORPHA:79255
HP:0011442	Abnormal central motor function	2743	GLRB	OMIM:614619
HP:0011442	Abnormal central motor function	51728	POLR3K	OMIM:619310
HP:0011442	Abnormal central motor function	10564	ARFGEF2	OMIM:608097
HP:0011442	Abnormal central motor function	4860	PNP	OMIM:613179
HP:0011442	Abnormal central motor function	4038	LRP4	OMIM:614305
HP:0011442	Abnormal central motor function	7360	UGP2	OMIM:618744
HP:0011442	Abnormal central motor function	8050	PDHX	ORPHA:255182
HP:0011442	Abnormal central motor function	2571	GAD1	OMIM:619124
HP:0011442	Abnormal central motor function	128240	NAXE	OMIM:617186
HP:0011442	Abnormal central motor function	79587	CARS2	ORPHA:477774
HP:0011442	Abnormal central motor function	79587	CARS2	OMIM:616672
HP:0011442	Abnormal central motor function	4722	NDUFS3	OMIM:618230
HP:0011442	Abnormal central motor function	23287	AGTPBP1	OMIM:618276
HP:0011442	Abnormal central motor function	347733	TUBB2B	OMIM:610031
HP:0011442	Abnormal central motor function	64135	IFIH1	OMIM:615846
HP:0011442	Abnormal central motor function	340533	NEXMIF	ORPHA:85277
HP:0011442	Abnormal central motor function	1757	SARDH	ORPHA:3129
HP:0011442	Abnormal central motor function	55679	LIMS2	OMIM:616827
HP:0011442	Abnormal central motor function	64802	NMNAT1	OMIM:619260
HP:0011442	Abnormal central motor function	2632	GBE1	OMIM:263570
HP:0011442	Abnormal central motor function	1468	SLC25A10	OMIM:618972
HP:0011442	Abnormal central motor function	760	CA2	ORPHA:2785
HP:0011442	Abnormal central motor function	2639	GCDH	ORPHA:25
HP:0011442	Abnormal central motor function	25942	SIN3A	OMIM:613406
HP:0011442	Abnormal central motor function	658	BMPR1B	OMIM:616849
HP:0011442	Abnormal central motor function	4854	NOTCH3	ORPHA:136
HP:0011442	Abnormal central motor function	51816	ADA2	OMIM:182410
HP:0011442	Abnormal central motor function	51816	ADA2	OMIM:615688
HP:0011442	Abnormal central motor function	158	ADSL	OMIM:103050
HP:0011442	Abnormal central motor function	727676	SNORD118	OMIM:614561
HP:0011442	Abnormal central motor function	1284	COL4A2	OMIM:614483
HP:0011442	Abnormal central motor function	6331	SCN5A	ORPHA:1344
HP:0011442	Abnormal central motor function	4878	NPPA	ORPHA:1344
HP:0011442	Abnormal central motor function	4519	MT-CYB	ORPHA:137675
HP:0011442	Abnormal central motor function	478	ATP1A3	OMIM:614820
HP:0011442	Abnormal central motor function	2260	FGFR1	ORPHA:2396
HP:0011442	Abnormal central motor function	3845	KRAS	ORPHA:2396
HP:0011442	Abnormal central motor function	1282	COL4A1	OMIM:175780
HP:0011442	Abnormal central motor function	6775	STAT4	ORPHA:93552
HP:0011442	Abnormal central motor function	6696	SPP1	ORPHA:93552
HP:0011442	Abnormal central motor function	3654	IRAK1	ORPHA:93552
HP:0011442	Abnormal central motor function	1493	CTLA4	ORPHA:900
HP:0011442	Abnormal central motor function	26191	PTPN22	ORPHA:900
HP:0011442	Abnormal central motor function	3115	HLA-DPB1	ORPHA:900
HP:0011442	Abnormal central motor function	5657	PRTN3	ORPHA:900
HP:0011442	Abnormal central motor function	3113	HLA-DPA1	ORPHA:900
HP:0011442	Abnormal central motor function	2776	GNAQ	ORPHA:624
HP:0011442	Abnormal central motor function	773	CACNA1A	ORPHA:569
HP:0011442	Abnormal central motor function	773	CACNA1A	ORPHA:97
HP:0011442	Abnormal central motor function	773	CACNA1A	OMIM:141500
HP:0011442	Abnormal central motor function	112476	PRRT2	ORPHA:569
HP:0011442	Abnormal central motor function	6323	SCN1A	ORPHA:569
HP:0011442	Abnormal central motor function	6323	SCN1A	OMIM:609634
HP:0011442	Abnormal central motor function	477	ATP1A2	ORPHA:569
HP:0011442	Abnormal central motor function	477	ATP1A2	OMIM:602481
HP:0011442	Abnormal central motor function	6821	SUOX	OMIM:272300
HP:0011442	Abnormal central motor function	6507	SLC1A3	ORPHA:209967
HP:0011442	Abnormal central motor function	6507	SLC1A3	OMIM:612656
HP:0011442	Abnormal central motor function	5551	PRF1	OMIM:603553
HP:0011442	Abnormal central motor function	81704	DOCK8	OMIM:243700
HP:0011442	Abnormal central motor function	2581	GALC	ORPHA:206443
HP:0011442	Abnormal central motor function	2581	GALC	ORPHA:206448
HP:0011442	Abnormal central motor function	170302	ARX	ORPHA:3175
HP:0011442	Abnormal central motor function	80169	CTC1	OMIM:612199
HP:0011442	Abnormal central motor function	50485	SMARCAL1	ORPHA:1830
HP:0011442	Abnormal central motor function	57465	TBC1D24	ORPHA:352596
HP:0011442	Abnormal central motor function	2782	GNB1	OMIM:616973
HP:0011442	Abnormal central motor function	5053	PAH	ORPHA:79254
HP:0011442	Abnormal central motor function	5091	PC	OMIM:266150
HP:0011442	Abnormal central motor function	79876	UBA5	OMIM:617132
HP:0011442	Abnormal central motor function	55768	NGLY1	OMIM:615273
HP:0011442	Abnormal central motor function	55768	NGLY1	ORPHA:404454
HP:0011442	Abnormal central motor function	2775	GNAO1	OMIM:617493
HP:0011442	Abnormal central motor function	2775	GNAO1	OMIM:615473
HP:0011442	Abnormal central motor function	56896	DPYSL5	OMIM:619435
HP:0011442	Abnormal central motor function	23316	CUX2	OMIM:618141
HP:0011442	Abnormal central motor function	27089	UQCRQ	OMIM:615159
HP:0011442	Abnormal central motor function	10059	DNM1L	OMIM:614388
HP:0011442	Abnormal central motor function	2290	FOXG1	OMIM:613454
HP:0011442	Abnormal central motor function	5828	PEX2	OMIM:614866
HP:0011442	Abnormal central motor function	80036	TRPM3	OMIM:620224
HP:0011442	Abnormal central motor function	1528	CYB5A	ORPHA:621
HP:0011442	Abnormal central motor function	1727	CYB5R3	ORPHA:621
HP:0011442	Abnormal central motor function	6609	SMPD1	OMIM:257200
HP:0011442	Abnormal central motor function	23556	PIGN	ORPHA:280633
HP:0011442	Abnormal central motor function	26503	SLC17A5	OMIM:604369
HP:0011442	Abnormal central motor function	5155	PDGFB	OMIM:615483
HP:0011442	Abnormal central motor function	5155	PDGFB	OMIM:213600
HP:0011442	Abnormal central motor function	10730	YME1L1	OMIM:617302
HP:0011442	Abnormal central motor function	50	ACO2	OMIM:614559
HP:0011442	Abnormal central motor function	5831	PYCR1	OMIM:614438
HP:0011442	Abnormal central motor function	55164	SHQ1	OMIM:619922
HP:0011442	Abnormal central motor function	55650	PIGV	OMIM:239300
HP:0011442	Abnormal central motor function	55572	FOXRED1	OMIM:618241
HP:0011442	Abnormal central motor function	10352	WARS2	OMIM:617710
HP:0011442	Abnormal central motor function	10352	WARS2	ORPHA:572798
HP:0011442	Abnormal central motor function	2058	EPRS1	OMIM:617951
HP:0011442	Abnormal central motor function	3054	HCFC1	OMIM:309541
HP:0011442	Abnormal central motor function	6575	SLC20A2	OMIM:213600
HP:0011442	Abnormal central motor function	5159	PDGFRB	OMIM:213600
HP:0011442	Abnormal central motor function	549	AUH	OMIM:250950
HP:0011442	Abnormal central motor function	8803	SUCLA2	OMIM:612073
HP:0011442	Abnormal central motor function	6833	ABCC8	OMIM:618857
HP:0011442	Abnormal central motor function	8635	RNASET2	OMIM:612951
HP:0011442	Abnormal central motor function	113235	SLC46A1	OMIM:229050
HP:0011442	Abnormal central motor function	26227	PHGDH	ORPHA:79351
HP:0011442	Abnormal central motor function	8241	RBM10	OMIM:311900
HP:0011442	Abnormal central motor function	6095	RORA	OMIM:618060
HP:0011442	Abnormal central motor function	8518	ELP1	OMIM:223900
HP:0011442	Abnormal central motor function	7840	ALMS1	ORPHA:64
HP:0011442	Abnormal central motor function	2643	GCH1	OMIM:128230
HP:0011442	Abnormal central motor function	3736	KCNA1	OMIM:160120
HP:0011442	Abnormal central motor function	1387	CREBBP	OMIM:180849
HP:0011442	Abnormal central motor function	2033	EP300	OMIM:180849
HP:0011442	Abnormal central motor function	2895	GRID2	OMIM:616204
HP:0011442	Abnormal central motor function	1859	DYRK1A	OMIM:614104
HP:0011442	Abnormal central motor function	6418	SET	OMIM:618106
HP:0011442	Abnormal central motor function	123263	MTFMT	OMIM:614947
HP:0011442	Abnormal central motor function	22934	RPIA	OMIM:608611
HP:0011442	Abnormal central motor function	1917	EEF1A2	OMIM:616409
HP:0011442	Abnormal central motor function	6335	SCN9A	ORPHA:33069
HP:0011442	Abnormal central motor function	6335	SCN9A	ORPHA:36387
HP:0011442	Abnormal central motor function	6326	SCN2A	ORPHA:33069
HP:0011442	Abnormal central motor function	6326	SCN2A	ORPHA:36387
HP:0011442	Abnormal central motor function	2554	GABRA1	ORPHA:33069
HP:0011442	Abnormal central motor function	6324	SCN1B	ORPHA:33069
HP:0011442	Abnormal central motor function	6324	SCN1B	ORPHA:36387
HP:0011442	Abnormal central motor function	57526	PCDH19	ORPHA:33069
HP:0011442	Abnormal central motor function	2566	GABRG2	ORPHA:33069
HP:0011442	Abnormal central motor function	2566	GABRG2	ORPHA:36387
HP:0011442	Abnormal central motor function	1130	LYST	ORPHA:352723
HP:0011442	Abnormal central motor function	23126	POGZ	ORPHA:468678
HP:0011442	Abnormal central motor function	6712	SPTBN2	ORPHA:98766
HP:0011442	Abnormal central motor function	6712	SPTBN2	OMIM:600224
HP:0011442	Abnormal central motor function	724066	ATXN8	OMIM:608768
HP:0011442	Abnormal central motor function	6315	ATXN8OS	OMIM:608768
HP:0011442	Abnormal central motor function	5621	PRNP	ORPHA:157941
HP:0011442	Abnormal central motor function	5621	PRNP	OMIM:603218
HP:0011442	Abnormal central motor function	283489	CHAMP1	OMIM:616579
HP:0011442	Abnormal central motor function	55788	LMBRD1	OMIM:277380
HP:0011442	Abnormal central motor function	6925	TCF4	OMIM:610954
HP:0011442	Abnormal central motor function	2592	GALT	ORPHA:79239
HP:0011442	Abnormal central motor function	343641	TGM6	OMIM:613908
HP:0011442	Abnormal central motor function	51324	SPG21	OMIM:248900
HP:0011442	Abnormal central motor function	6571	SLC18A2	OMIM:618049
HP:0011442	Abnormal central motor function	23203	PMPCA	OMIM:213200
HP:0011442	Abnormal central motor function	23389	MED13L	ORPHA:369891
HP:0011442	Abnormal central motor function	7080	NKX2-1	ORPHA:209905
HP:0011442	Abnormal central motor function	20	ABCA2	OMIM:618808
HP:0011442	Abnormal central motor function	128989	TANGO2	ORPHA:480864
HP:0011442	Abnormal central motor function	4524	MTHFR	OMIM:236250
HP:0011442	Abnormal central motor function	51109	RDH11	ORPHA:436245
HP:0011442	Abnormal central motor function	112755	STX1B	ORPHA:36387
HP:0011442	Abnormal central motor function	2563	GABRD	ORPHA:36387
HP:0011442	Abnormal central motor function	348980	HCN1	ORPHA:36387
HP:0011442	Abnormal central motor function	84059	ADGRV1	ORPHA:36387
HP:0011442	Abnormal central motor function	3119	HLA-DQB1	OMIM:126200
HP:0011442	Abnormal central motor function	5133	PDCD1	OMIM:126200
HP:0011442	Abnormal central motor function	3123	HLA-DRB1	OMIM:126200
HP:0011442	Abnormal central motor function	1203	CLN5	ORPHA:228360
HP:0011442	Abnormal central motor function	1203	CLN5	OMIM:256731
HP:0011442	Abnormal central motor function	6584	SLC22A5	ORPHA:158
HP:0011442	Abnormal central motor function	3064	HTT	ORPHA:399
HP:0011442	Abnormal central motor function	6515	SLC2A3	ORPHA:399
HP:0011442	Abnormal central motor function	5888	RAD51	ORPHA:238722
HP:0011442	Abnormal central motor function	10126	DNAL4	ORPHA:238722
HP:0011442	Abnormal central motor function	9423	NTN1	ORPHA:238722
HP:0011442	Abnormal central motor function	1630	DCC	ORPHA:238722
HP:0011442	Abnormal central motor function	7809	BSND	ORPHA:89938
HP:0011442	Abnormal central motor function	1187	CLCNKA	ORPHA:89938
HP:0011442	Abnormal central motor function	410	ARSA	ORPHA:309256
HP:0011442	Abnormal central motor function	410	ARSA	ORPHA:309271
HP:0011442	Abnormal central motor function	410	ARSA	ORPHA:309263
HP:0011442	Abnormal central motor function	10367	MICU1	OMIM:615673
HP:0011442	Abnormal central motor function	57680	CHD8	OMIM:615032
HP:0011442	Abnormal central motor function	23516	SLC39A14	OMIM:617013
HP:0011442	Abnormal central motor function	5063	PAK3	OMIM:300558
HP:0011442	Abnormal central motor function	55280	CWF19L1	OMIM:616127
HP:0011442	Abnormal central motor function	55280	CWF19L1	ORPHA:453521
HP:0011442	Abnormal central motor function	540	ATP7B	ORPHA:905
HP:0011442	Abnormal central motor function	4929	NR4A2	OMIM:619911
HP:0011442	Abnormal central motor function	3748	KCNC3	ORPHA:98768
HP:0011442	Abnormal central motor function	6638	SNRPN	OMIM:105830
HP:0011442	Abnormal central motor function	7337	UBE3A	OMIM:105830
HP:0011442	Abnormal central motor function	825	CAPN3	OMIM:253600
HP:0011442	Abnormal central motor function	79581	SLC52A2	OMIM:614707
HP:0011442	Abnormal central motor function	11128	POLR3A	ORPHA:447896
HP:0011442	Abnormal central motor function	4125	MAN2B1	ORPHA:309282
HP:0011442	Abnormal central motor function	4125	MAN2B1	ORPHA:309288
HP:0011442	Abnormal central motor function	2334	AFF2	ORPHA:100973
HP:0011442	Abnormal central motor function	23030	KDM4B	OMIM:619320
HP:0011442	Abnormal central motor function	10157	AASS	ORPHA:2203
HP:0011442	Abnormal central motor function	7274	TTPA	OMIM:277460
HP:0011442	Abnormal central motor function	859	CAV3	ORPHA:488650
HP:0011442	Abnormal central motor function	10522	DEAF1	ORPHA:468620
HP:0011442	Abnormal central motor function	56652	TWNK	OMIM:271245
HP:0011442	Abnormal central motor function	7252	TSHB	ORPHA:90674
HP:0011442	Abnormal central motor function	1200	TPP1	ORPHA:284324
HP:0011442	Abnormal central motor function	1200	TPP1	OMIM:609270
HP:0011442	Abnormal central motor function	79868	ALG13	ORPHA:324422
HP:0011442	Abnormal central motor function	51	ACOX1	OMIM:618960
HP:0011442	Abnormal central motor function	80025	PANK2	ORPHA:216873
HP:0011442	Abnormal central motor function	54941	RNF125	OMIM:616260
HP:0011442	Abnormal central motor function	55157	DARS2	ORPHA:137898
HP:0011442	Abnormal central motor function	84665	MYPN	ORPHA:171439
HP:0011442	Abnormal central motor function	58	ACTA1	ORPHA:171439
HP:0011442	Abnormal central motor function	7169	TPM2	ORPHA:171439
HP:0011442	Abnormal central motor function	390594	KBTBD13	ORPHA:171439
HP:0011442	Abnormal central motor function	4703	NEB	ORPHA:171439
HP:0011442	Abnormal central motor function	10324	KLHL41	ORPHA:171439
HP:0011442	Abnormal central motor function	7170	TPM3	ORPHA:171439
HP:0011442	Abnormal central motor function	2055	CLN8	OMIM:610003
HP:0011442	Abnormal central motor function	2055	CLN8	ORPHA:1947
HP:0011442	Abnormal central motor function	7273	TTN	ORPHA:609
HP:0011442	Abnormal central motor function	10815	CPLX1	ORPHA:352582
HP:0011442	Abnormal central motor function	23732	FRRS1L	ORPHA:725
HP:0011442	Abnormal central motor function	2903	GRIN2A	ORPHA:725
HP:0011442	Abnormal central motor function	7072	TIA1	ORPHA:603
HP:0011442	Abnormal central motor function	492	ATP2B3	ORPHA:314978
HP:0011442	Abnormal central motor function	165918	RNF168	ORPHA:420741
HP:0011442	Abnormal central motor function	220296	HEPACAM	OMIM:613926
HP:0011442	Abnormal central motor function	4359	MPZ	ORPHA:3115
HP:0011442	Abnormal central motor function	10456	HAX1	OMIM:610738
HP:0011442	Abnormal central motor function	84265	POLR3GL	OMIM:619234
HP:0011442	Abnormal central motor function	93587	TRMT10A	ORPHA:391408
HP:0011442	Abnormal central motor function	1181	CLCN2	OMIM:615651
HP:0011442	Abnormal central motor function	131118	DNAJC19	ORPHA:66634
HP:0011442	Abnormal central motor function	79912	PYROXD1	OMIM:617258
HP:0011442	Abnormal central motor function	1303	COL12A1	ORPHA:75840
HP:0011442	Abnormal central motor function	1291	COL6A1	ORPHA:75840
HP:0011442	Abnormal central motor function	1292	COL6A2	ORPHA:75840
HP:0011442	Abnormal central motor function	1293	COL6A3	ORPHA:75840
HP:0011442	Abnormal central motor function	5339	PLEC	ORPHA:254361
HP:0011442	Abnormal central motor function	10397	NDRG1	OMIM:601455
HP:0011442	Abnormal central motor function	6576	SLC25A1	OMIM:618197
HP:0011442	Abnormal central motor function	318	NUDT2	OMIM:619844
HP:0011442	Abnormal central motor function	5189	PEX1	OMIM:214100
HP:0011442	Abnormal central motor function	79147	FKRP	OMIM:607155
HP:0011442	Abnormal central motor function	79147	FKRP	OMIM:606612
HP:0011442	Abnormal central motor function	79147	FKRP	ORPHA:34515
HP:0011442	Abnormal central motor function	79147	FKRP	ORPHA:370980
HP:0011442	Abnormal central motor function	29925	GMPPB	ORPHA:353327
HP:0011442	Abnormal central motor function	2673	GFPT1	ORPHA:353327
HP:0011442	Abnormal central motor function	85365	ALG2	ORPHA:353327
HP:0011442	Abnormal central motor function	199857	ALG14	ORPHA:353327
HP:0011442	Abnormal central motor function	199857	ALG14	OMIM:616227
HP:0011442	Abnormal central motor function	54834	GDAP2	OMIM:618369
HP:0011442	Abnormal central motor function	284439	SLC25A42	OMIM:618416
HP:0011442	Abnormal central motor function	729920	CRPPA	ORPHA:370980
HP:0011442	Abnormal central motor function	10585	POMT1	ORPHA:370980
HP:0011442	Abnormal central motor function	6445	SGCG	ORPHA:353
HP:0011442	Abnormal central motor function	1778	DYNC1H1	OMIM:614228
HP:0011442	Abnormal central motor function	6442	SGCA	ORPHA:62
HP:0011442	Abnormal central motor function	8292	COLQ	ORPHA:98915
HP:0011442	Abnormal central motor function	3913	LAMB2	ORPHA:98915
HP:0011442	Abnormal central motor function	383	ARG1	OMIM:207800
HP:0011442	Abnormal central motor function	1073	CFL2	OMIM:610687
HP:0011442	Abnormal central motor function	122622	ADSS1	ORPHA:482601
HP:0011442	Abnormal central motor function	23479	ISCU	OMIM:255125
HP:0011442	Abnormal central motor function	124093	CCDC78	OMIM:614807
HP:0011442	Abnormal central motor function	9181	ARHGEF2	OMIM:617523
HP:0011442	Abnormal central motor function	6786	STIM1	OMIM:160565
HP:0011442	Abnormal central motor function	54808	DYM	ORPHA:239
HP:0011442	Abnormal central motor function	55773	TBC1D23	OMIM:617695
HP:0011442	Abnormal central motor function	7283	TUBG1	ORPHA:261183
HP:0011442	Abnormal central motor function	81614	NIPA2	ORPHA:261183
HP:0011442	Abnormal central motor function	51126	NAA20	OMIM:619717
HP:0011442	Abnormal central motor function	54585	LZTFL1	OMIM:615994
HP:0011442	Abnormal central motor function	84100	ARL6	OMIM:209900
HP:0011442	Abnormal central motor function	79140	CCDC28B	OMIM:209900
HP:0011442	Abnormal central motor function	582	BBS1	OMIM:209900
HP:0011442	Abnormal central motor function	10079	ATP9A	OMIM:620242
HP:0011442	Abnormal central motor function	8726	EED	OMIM:617561
HP:0011442	Abnormal central motor function	25828	TXN2	ORPHA:478029
HP:0011442	Abnormal central motor function	6942	TCF20	OMIM:618430
HP:0011442	Abnormal central motor function	6492	SIM1	ORPHA:171829
HP:0011442	Abnormal central motor function	4548	MTR	OMIM:250940
HP:0011442	Abnormal central motor function	10075	HUWE1	OMIM:309590
HP:0011442	Abnormal central motor function	5165	PDK3	OMIM:300905
HP:0011442	Abnormal central motor function	5165	PDK3	ORPHA:352675
HP:0011442	Abnormal central motor function	7253	TSHR	ORPHA:99819
HP:0011442	Abnormal central motor function	7253	TSHR	ORPHA:424
HP:0011442	Abnormal central motor function	4803	NGF	OMIM:608654
HP:0011442	Abnormal central motor function	122553	TRAPPC6B	OMIM:617862
HP:0011442	Abnormal central motor function	2645	GCK	ORPHA:79299
HP:0011442	Abnormal central motor function	55023	PHIP	ORPHA:589905
HP:0011442	Abnormal central motor function	1814	DRD3	OMIM:190300
HP:0011442	Abnormal central motor function	10058	ABCB6	OMIM:609153
HP:0011442	Abnormal central motor function	10749	KIF1C	ORPHA:397946
HP:0011442	Abnormal central motor function	10749	KIF1C	OMIM:611302
HP:0011442	Abnormal central motor function	1410	CRYAB	OMIM:608810
HP:0011442	Abnormal central motor function	4287	ATXN3	OMIM:109150
HP:0011442	Abnormal central motor function	1938	EEF2	ORPHA:101112
HP:0011442	Abnormal central motor function	5393	EXOSC9	OMIM:618065
HP:0011442	Abnormal central motor function	23345	SYNE1	ORPHA:88644
HP:0011442	Abnormal central motor function	3315	HSPB1	OMIM:606595
HP:0011442	Abnormal central motor function	7879	RAB7A	OMIM:600882
HP:0011442	Abnormal central motor function	55187	VPS13D	OMIM:607317
HP:0011442	Abnormal central motor function	55187	VPS13D	ORPHA:95434
HP:0011442	Abnormal central motor function	6311	ATXN2	OMIM:183090
HP:0011442	Abnormal central motor function	6311	ATXN2	ORPHA:98756
HP:0011442	Abnormal central motor function	10613	ERLIN1	OMIM:615681
HP:0011442	Abnormal central motor function	10528	NOP56	OMIM:614153
HP:0011442	Abnormal central motor function	10528	NOP56	ORPHA:276198
HP:0011442	Abnormal central motor function	5660	PSAP	OMIM:611721
HP:0011442	Abnormal central motor function	90678	LRSAM1	OMIM:614436
HP:0011442	Abnormal central motor function	10342	TFG	OMIM:604484
HP:0011442	Abnormal central motor function	7443	VRK1	OMIM:607596
HP:0011442	Abnormal central motor function	6785	ELOVL4	OMIM:133190
HP:0011442	Abnormal central motor function	3178	HNRNPA1	ORPHA:52430
HP:0011442	Abnormal central motor function	3181	HNRNPA2B1	ORPHA:52430
HP:0011442	Abnormal central motor function	6310	ATXN1	ORPHA:98755
HP:0011442	Abnormal central motor function	6310	ATXN1	OMIM:164400
HP:0011442	Abnormal central motor function	57104	PNPLA2	OMIM:610717
HP:0011442	Abnormal central motor function	57104	PNPLA2	ORPHA:98908
HP:0011442	Abnormal central motor function	487	ATP2A1	OMIM:601003
HP:0011442	Abnormal central motor function	6904	TBCD	ORPHA:496641
HP:0011442	Abnormal central motor function	55129	ANO10	ORPHA:284289
HP:0011442	Abnormal central motor function	55129	ANO10	OMIM:613728
HP:0011442	Abnormal central motor function	3094	HINT1	OMIM:137200
HP:0011442	Abnormal central motor function	23299	BICD2	OMIM:615290
HP:0011442	Abnormal central motor function	7345	UCHL1	OMIM:615491
HP:0011442	Abnormal central motor function	2717	GLA	OMIM:301500
HP:0011442	Abnormal central motor function	182	JAG1	OMIM:619574
HP:0011442	Abnormal central motor function	81545	FBXO38	OMIM:615575
HP:0011442	Abnormal central motor function	10133	OPTN	OMIM:613435
HP:0011442	Abnormal central motor function	311	ANXA11	OMIM:619733
HP:0011442	Abnormal central motor function	55681	SCYL2	ORPHA:1143
HP:0011442	Abnormal central motor function	84570	COL25A1	ORPHA:1143
HP:0011442	Abnormal central motor function	57222	ERGIC1	ORPHA:1143
HP:0011442	Abnormal central motor function	6261	RYR1	ORPHA:324581
HP:0011442	Abnormal central motor function	9997	SCO2	ORPHA:521411
HP:0011442	Abnormal central motor function	5216	PFN1	OMIM:614808
HP:0011442	Abnormal central motor function	27072	VPS41	ORPHA:95434
HP:0011442	Abnormal central motor function	9217	VAPB	OMIM:608627
HP:0011442	Abnormal central motor function	9217	VAPB	OMIM:182980
HP:0011442	Abnormal central motor function	899	CCNF	OMIM:619141
HP:0011442	Abnormal central motor function	57531	HACE1	ORPHA:464282
HP:0011442	Abnormal central motor function	114034	TOE1	ORPHA:284339
HP:0011442	Abnormal central motor function	9562	MINPP1	ORPHA:284339
HP:0011442	Abnormal central motor function	6329	SCN4A	ORPHA:682
HP:0011442	Abnormal central motor function	84896	ATAD1	ORPHA:3197
HP:0011442	Abnormal central motor function	65250	CPLANE1	ORPHA:65684
HP:0011442	Abnormal central motor function	57562	CEP126	ORPHA:65684
HP:0011442	Abnormal central motor function	25978	CHMP2B	ORPHA:275864
HP:0011442	Abnormal central motor function	5663	PSEN1	ORPHA:275864
HP:0011442	Abnormal central motor function	2896	GRN	ORPHA:275864
HP:0011442	Abnormal central motor function	54664	TMEM106B	ORPHA:275864
HP:0011442	Abnormal central motor function	4137	MAPT	ORPHA:275864
HP:0011442	Abnormal central motor function	54209	TREM2	ORPHA:275864
HP:0011442	Abnormal central motor function	367	AR	OMIM:313200
HP:0011442	Abnormal central motor function	5630	PRPH	OMIM:105400
HP:0011442	Abnormal central motor function	1639	DCTN1	OMIM:105400
HP:0011442	Abnormal central motor function	4744	NEFH	OMIM:105400
HP:0011442	Abnormal central motor function	1756	DMD	ORPHA:206546
HP:0011442	Abnormal central motor function	4747	NEFL	ORPHA:101085
HP:0011442	Abnormal central motor function	427	ASAH1	ORPHA:333
HP:0011442	Abnormal central motor function	1593	CYP27A1	ORPHA:909
HP:0011442	Abnormal central motor function	1213	CLTC	OMIM:617854
HP:0011442	Abnormal central motor function	54902	TTC19	OMIM:615157
HP:0011442	Abnormal central motor function	9289	ADGRG1	ORPHA:98889
HP:0011442	Abnormal central motor function	5297	PI4KA	ORPHA:98889
HP:0011442	Abnormal central motor function	27286	SRPX2	ORPHA:98889
HP:0011442	Abnormal central motor function	2521	FUS	ORPHA:275872
HP:0011442	Abnormal central motor function	8878	SQSTM1	ORPHA:275872
HP:0011442	Abnormal central motor function	7415	VCP	ORPHA:275872
HP:0011442	Abnormal central motor function	23435	TARDBP	ORPHA:275872
HP:0011442	Abnormal central motor function	29110	TBK1	ORPHA:275872
HP:0011442	Abnormal central motor function	400916	CHCHD10	ORPHA:275872
HP:0011442	Abnormal central motor function	5428	POLG	ORPHA:726
HP:0011442	Abnormal central motor function	3431	SP110	ORPHA:79124
HP:0011442	Abnormal central motor function	80704	SLC19A3	OMIM:607483
HP:0011442	Abnormal central motor function	203228	C9orf72	OMIM:105550
HP:0011442	Abnormal central motor function	23400	ATP13A2	OMIM:606693
HP:0011442	Abnormal central motor function	5631	PRPS1	ORPHA:99014
HP:0011442	Abnormal central motor function	4763	NF1	OMIM:162210
HP:0011442	Abnormal central motor function	215	ABCD1	OMIM:300100
HP:0011442	Abnormal central motor function	2705	GJB1	OMIM:302800
HP:0011442	Abnormal central motor function	80208	SPG11	ORPHA:2822
HP:0011442	Abnormal central motor function	80199	FUZ	ORPHA:1136
HP:0011442	Abnormal central motor function	8792	TNFRSF11A	OMIM:602080
HP:0011442	Abnormal central motor function	498	ATP5F1A	OMIM:620358
HP:0011442	Abnormal central motor function	2697	GJA1	OMIM:164200
HP:0011442	Abnormal central motor function	2593	GAMT	OMIM:612736
HP:0011442	Abnormal central motor function	22845	DOLK	OMIM:610768
HP:0011442	Abnormal central motor function	701	BUB1B	OMIM:257300
HP:0011442	Abnormal central motor function	56246	MRAP	ORPHA:361
HP:0011442	Abnormal central motor function	6770	STAR	ORPHA:361
HP:0011442	Abnormal central motor function	4158	MC2R	ORPHA:361
HP:0011442	Abnormal central motor function	23530	NNT	ORPHA:361
HP:0011442	Abnormal central motor function	10587	TXNRD2	ORPHA:361
HP:0011442	Abnormal central motor function	51693	TRAPPC2L	OMIM:618331
HP:0011442	Abnormal central motor function	1806	DPYD	OMIM:274270
HP:0011442	Abnormal central motor function	55775	TDP1	ORPHA:94124
HP:0011442	Abnormal central motor function	5190	PEX6	ORPHA:95433
HP:0011442	Abnormal central motor function	54	ACP5	OMIM:607944
HP:0011442	Abnormal central motor function	133686	NADK2	ORPHA:431361
HP:0011442	Abnormal central motor function	5048	PAFAH1B1	ORPHA:95232
HP:0011442	Abnormal central motor function	1513	CTSK	ORPHA:763
HP:0011442	Abnormal central motor function	54828	BCAS3	OMIM:619641
HP:0011442	Abnormal central motor function	55131	RBM28	OMIM:612079
HP:0011442	Abnormal central motor function	27249	MMADHC	OMIM:277410
HP:0011442	Abnormal central motor function	26115	TANC2	OMIM:618906
HP:0011442	Abnormal central motor function	6905	TBCE	ORPHA:496756
HP:0011442	Abnormal central motor function	23141	ANKLE2	OMIM:616681
HP:0011442	Abnormal central motor function	8496	PPFIBP1	OMIM:620024
HP:0011442	Abnormal central motor function	1193	CLIC2	OMIM:300886
HP:0011442	Abnormal central motor function	1193	CLIC2	ORPHA:324410
HP:0011442	Abnormal central motor function	79709	COLGALT1	OMIM:618360
HP:0011442	Abnormal central motor function	22796	COG2	OMIM:617395
HP:0011442	Abnormal central motor function	22796	COG2	ORPHA:435934
HP:0011442	Abnormal central motor function	3796	KIF2A	OMIM:615411
HP:0011442	Abnormal central motor function	170825	GSX2	OMIM:618646
HP:0011442	Abnormal central motor function	5903	RANBP2	ORPHA:88619
HP:0011442	Abnormal central motor function	5903	RANBP2	OMIM:608033
HP:0011442	Abnormal central motor function	4990	SIX6	OMIM:206900
HP:0011442	Abnormal central motor function	6657	SOX2	OMIM:206900
HP:0011442	Abnormal central motor function	56270	WDR45B	OMIM:617977
HP:0011442	Abnormal central motor function	285175	UNC80	ORPHA:371364
HP:0011442	Abnormal central motor function	5700	PSMC1	OMIM:620071
HP:0011442	Abnormal central motor function	90522	YIF1B	OMIM:619125
HP:0011442	Abnormal central motor function	3800	KIF5C	OMIM:615282
HP:0011442	Abnormal central motor function	64919	BCL11B	OMIM:617237
HP:0011442	Abnormal central motor function	2806	GOT2	OMIM:618721
HP:0011442	Abnormal central motor function	51294	PCDH12	OMIM:251280
HP:0011442	Abnormal central motor function	28962	OSTM1	OMIM:259720
HP:0011442	Abnormal central motor function	51645	PPIL1	OMIM:619301
HP:0011442	Abnormal central motor function	51362	CDC40	OMIM:619302
HP:0011442	Abnormal central motor function	51075	TMX2	OMIM:618730
HP:0011442	Abnormal central motor function	55770	EXOC2	OMIM:619306
HP:0011442	Abnormal central motor function	3060	HCRT	OMIM:161400
HP:0011442	Abnormal central motor function	3060	HCRT	ORPHA:2073
HP:0011442	Abnormal central motor function	10577	NPC2	OMIM:607625
HP:0011442	Abnormal central motor function	4340	MOG	OMIM:614250
HP:0011442	Abnormal central motor function	4340	MOG	ORPHA:2073
HP:0011442	Abnormal central motor function	1512	CTSH	ORPHA:2073
HP:0011442	Abnormal central motor function	5032	P2RY11	ORPHA:2073
HP:0011442	Abnormal central motor function	22891	ZNF365	ORPHA:2073
HP:0011442	Abnormal central motor function	7292	TNFSF4	ORPHA:2073
HP:0011442	Abnormal central motor function	4864	NPC1	OMIM:257220
HP:0011442	Abnormal central motor function	8575	PRKRA	OMIM:612067
HP:0011442	Abnormal central motor function	10558	SPTLC1	ORPHA:300605
HP:0011442	Abnormal central motor function	9757	KMT2B	OMIM:617284
HP:0011442	Abnormal central motor function	26058	GIGYF2	OMIM:607688
HP:0011442	Abnormal central motor function	26058	GIGYF2	ORPHA:411602
HP:0011442	Abnormal central motor function	7384	UQCRC1	OMIM:619279
HP:0011442	Abnormal central motor function	120892	LRRK2	OMIM:607060
HP:0011442	Abnormal central motor function	120892	LRRK2	ORPHA:411602
HP:0011442	Abnormal central motor function	23317	DNAJC13	ORPHA:411602
HP:0011442	Abnormal central motor function	1981	EIF4G1	ORPHA:411602
HP:0011442	Abnormal central motor function	55737	VPS35	ORPHA:411602
HP:0011442	Abnormal central motor function	116442	RAB39B	OMIM:311510
HP:0011442	Abnormal central motor function	6872	TAF1	ORPHA:53351
HP:0011442	Abnormal central motor function	6872	TAF1	OMIM:314250
HP:0011442	Abnormal central motor function	11315	PARK7	OMIM:606324
HP:0011442	Abnormal central motor function	7084	TK2	ORPHA:254886
HP:0011442	Abnormal central motor function	51142	CHCHD2	OMIM:616710
HP:0011442	Abnormal central motor function	27429	HTRA2	OMIM:610297
HP:0011442	Abnormal central motor function	84504	NKX6-2	OMIM:617560
HP:0011442	Abnormal central motor function	84504	NKX6-2	ORPHA:527497
HP:0011442	Abnormal central motor function	284217	LAMA1	ORPHA:370022
HP:0011442	Abnormal central motor function	242	ALOX12B	OMIM:242100
HP:0011442	Abnormal central motor function	59344	ALOXE3	OMIM:242100
HP:0011442	Abnormal central motor function	590	BCHE	ORPHA:132
HP:0011442	Abnormal central motor function	6513	SLC2A1	OMIM:606777
HP:0011442	Abnormal central motor function	6513	SLC2A1	ORPHA:71277
HP:0011442	Abnormal central motor function	2629	GBA1	ORPHA:2072
HP:0011442	Abnormal central motor function	29978	UBQLN2	OMIM:300857
HP:0011442	Abnormal central motor function	29978	UBQLN2	ORPHA:803
HP:0011442	Abnormal central motor function	8506	CNTNAP1	OMIM:616286
HP:0011442	Abnormal central motor function	966	CD59	OMIM:612300
HP:0011442	Abnormal central motor function	210	ALAD	OMIM:612740
HP:0011442	Abnormal central motor function	60386	SLC25A19	OMIM:613710
HP:0011442	Abnormal central motor function	8148	TAF15	ORPHA:803
HP:0011442	Abnormal central motor function	5445	PON2	ORPHA:803
HP:0011442	Abnormal central motor function	55830	GLT8D1	ORPHA:803
HP:0011442	Abnormal central motor function	755	CFAP410	ORPHA:803
HP:0011442	Abnormal central motor function	10891	PPARGC1A	ORPHA:803
HP:0011442	Abnormal central motor function	9896	FIG4	ORPHA:803
HP:0011442	Abnormal central motor function	5444	PON1	ORPHA:803
HP:0011442	Abnormal central motor function	5446	PON3	ORPHA:803
HP:0011442	Abnormal central motor function	9782	MATR3	ORPHA:803
HP:0011442	Abnormal central motor function	283	ANG	ORPHA:803
HP:0011442	Abnormal central motor function	2733	GLE1	ORPHA:803
HP:0011442	Abnormal central motor function	4750	NEK1	ORPHA:803
HP:0011442	Abnormal central motor function	2043	EPHA4	ORPHA:803
HP:0011442	Abnormal central motor function	1610	DAO	ORPHA:803
HP:0011442	Abnormal central motor function	2066	ERBB4	ORPHA:803
HP:0011442	Abnormal central motor function	23025	UNC13A	ORPHA:803
HP:0011442	Abnormal central motor function	100134444	KCNJ18	ORPHA:79102
HP:0011442	Abnormal central motor function	2556	GABRA3	ORPHA:79102
HP:0011442	Abnormal central motor function	779	CACNA1S	ORPHA:79102
HP:0011442	Abnormal central motor function	779	CACNA1S	ORPHA:681
HP:0011442	Abnormal central motor function	11235	PDCD10	OMIM:603285
HP:0011442	Abnormal central motor function	3098	HK1	OMIM:605285
HP:0011442	Abnormal central motor function	10008	KCNE3	ORPHA:681
HP:0011442	Abnormal central motor function	6559	SLC12A3	OMIM:263800
HP:0011442	Abnormal central motor function	6559	SLC12A3	ORPHA:358
HP:0011442	Abnormal central motor function	5498	PPOX	OMIM:176200
HP:0011442	Abnormal central motor function	3077	HFE	OMIM:176200
HP:0011442	Abnormal central motor function	3145	HMBS	OMIM:176000
HP:0011442	Abnormal central motor function	54822	TRPM7	OMIM:105500
HP:0011442	Abnormal central motor function	26353	HSPB8	OMIM:158590
HP:0011442	Abnormal central motor function	1188	CLCNKB	ORPHA:358
HP:0011442	Abnormal central motor function	4099	MAG	OMIM:616680
HP:0011442	Abnormal central motor function	4099	MAG	ORPHA:459056
HP:0011442	Abnormal central motor function	10159	ATP6AP2	OMIM:300911
HP:0011442	Abnormal central motor function	10159	ATP6AP2	ORPHA:93952
HP:0011442	Abnormal central motor function	10159	ATP6AP2	OMIM:300423
HP:0011442	Abnormal central motor function	10159	ATP6AP2	ORPHA:363654
HP:0011442	Abnormal central motor function	9853	RUSC2	OMIM:617773
HP:0011442	Abnormal central motor function	23446	SLC44A1	OMIM:618868
HP:0011442	Abnormal central motor function	6873	TAF2	OMIM:615599
HP:0011442	Abnormal central motor function	6873	TAF2	ORPHA:397951
HP:0011442	Abnormal central motor function	1786	DNMT1	ORPHA:314404
HP:0011442	Abnormal central motor function	5354	PLP1	ORPHA:99015
HP:0011442	Abnormal central motor function	5354	PLP1	ORPHA:280229
HP:0011442	Abnormal central motor function	5354	PLP1	OMIM:312920
HP:0011442	Abnormal central motor function	57165	GJC2	OMIM:608804
HP:0011442	Abnormal central motor function	57165	GJC2	OMIM:613206
HP:0011442	Abnormal central motor function	10908	PNPLA6	ORPHA:139480
HP:0011442	Abnormal central motor function	10908	PNPLA6	OMIM:612020
HP:0011442	Abnormal central motor function	8722	CTSF	OMIM:615362
HP:0011442	Abnormal central motor function	200205	IBA57	OMIM:616451
HP:0011442	Abnormal central motor function	200205	IBA57	ORPHA:468661
HP:0011442	Abnormal central motor function	1841	DTYMK	OMIM:619847
HP:0011442	Abnormal central motor function	2670	GFAP	OMIM:203450
HP:0011442	Abnormal central motor function	2670	GFAP	ORPHA:363722
HP:0011442	Abnormal central motor function	57156	TMEM63C	OMIM:619966
HP:0011442	Abnormal central motor function	57231	SNX14	ORPHA:397709
HP:0011442	Abnormal central motor function	57231	SNX14	OMIM:616354
HP:0011442	Abnormal central motor function	219285	SAMD9L	OMIM:159550
HP:0011442	Abnormal central motor function	219285	SAMD9L	OMIM:619806
HP:0011442	Abnormal central motor function	348	APOE	OMIM:607822
HP:0011442	Abnormal central motor function	5832	ALDH18A1	OMIM:616586
HP:0011442	Abnormal central motor function	5832	ALDH18A1	OMIM:601162
HP:0011442	Abnormal central motor function	5832	ALDH18A1	ORPHA:447757
HP:0011442	Abnormal central motor function	5832	ALDH18A1	ORPHA:447753
HP:0011442	Abnormal central motor function	5832	ALDH18A1	ORPHA:447760
HP:0011442	Abnormal central motor function	64834	ELOVL1	OMIM:618527
HP:0011442	Abnormal central motor function	7920	ABHD16A	OMIM:619735
HP:0011442	Abnormal central motor function	8560	DEGS1	OMIM:618404
HP:0011442	Abnormal central motor function	2074	ERCC6	OMIM:278800
HP:0011442	Abnormal central motor function	857	CAV1	OMIM:606721
HP:0011442	Abnormal central motor function	55149	MTPAP	ORPHA:254343
HP:0011442	Abnormal central motor function	55149	MTPAP	OMIM:613672
HP:0011442	Abnormal central motor function	55703	POLR3B	OMIM:619742
HP:0011442	Abnormal central motor function	55703	POLR3B	OMIM:607694
HP:0011442	Abnormal central motor function	83636	C19orf12	OMIM:614298
HP:0011442	Abnormal central motor function	83636	C19orf12	OMIM:615043
HP:0011442	Abnormal central motor function	5833	PCYT2	OMIM:618770
HP:0011442	Abnormal central motor function	246243	RNASEH1	OMIM:616479
HP:0011442	Abnormal central motor function	51271	UBAP1	OMIM:618418
HP:0011442	Abnormal central motor function	51271	UBAP1	ORPHA:100993
HP:0011442	Abnormal central motor function	9897	WASHC5	OMIM:603563
HP:0011442	Abnormal central motor function	9897	WASHC5	ORPHA:100989
HP:0011442	Abnormal central motor function	113612	CYP2U1	OMIM:615030
HP:0011442	Abnormal central motor function	113612	CYP2U1	ORPHA:320411
HP:0011442	Abnormal central motor function	10717	AP4B1	OMIM:614066
HP:0011442	Abnormal central motor function	10717	AP4B1	ORPHA:280763
HP:0011442	Abnormal central motor function	91574	MTRFR	OMIM:615035
HP:0011442	Abnormal central motor function	91574	MTRFR	ORPHA:320375
HP:0011442	Abnormal central motor function	51604	PIGT	OMIM:615398
HP:0011442	Abnormal central motor function	11154	AP4S1	OMIM:614067
HP:0011442	Abnormal central motor function	11154	AP4S1	ORPHA:280763
HP:0011442	Abnormal central motor function	23259	DDHD2	OMIM:615033
HP:0011442	Abnormal central motor function	23474	ETHE1	OMIM:602473
HP:0011442	Abnormal central motor function	1615	DARS1	OMIM:615281
HP:0011442	Abnormal central motor function	7358	UGDH	OMIM:618792
HP:0011442	Abnormal central motor function	9474	ATG5	OMIM:617584
HP:0011442	Abnormal central motor function	6506	SLC1A2	OMIM:617105
HP:0011442	Abnormal central motor function	25973	PARS2	OMIM:618437
HP:0011442	Abnormal central motor function	11261	CHP1	OMIM:618438
HP:0011442	Abnormal central motor function	10667	FARS2	ORPHA:466722
HP:0011442	Abnormal central motor function	10667	FARS2	OMIM:617046
HP:0011442	Abnormal central motor function	10280	SIGMAR1	OMIM:605726
HP:0011442	Abnormal central motor function	5981	RFC1	ORPHA:504476
HP:0011442	Abnormal central motor function	5917	RARS1	OMIM:616140
HP:0011442	Abnormal central motor function	339855	KY	ORPHA:496689
HP:0011442	Abnormal central motor function	2395	FXN	OMIM:229300
HP:0011442	Abnormal central motor function	2395	FXN	ORPHA:95
HP:0011442	Abnormal central motor function	57679	ALS2	OMIM:205100
HP:0011442	Abnormal central motor function	57679	ALS2	OMIM:607225
HP:0011442	Abnormal central motor function	57679	ALS2	OMIM:606353
HP:0011442	Abnormal central motor function	9725	TMEM63A	OMIM:618688
HP:0011442	Abnormal central motor function	6683	SPAST	OMIM:182601
HP:0011442	Abnormal central motor function	6683	SPAST	ORPHA:100985
HP:0011442	Abnormal central motor function	51062	ATL1	OMIM:182600
HP:0011442	Abnormal central motor function	51062	ATL1	ORPHA:100984
HP:0011442	Abnormal central motor function	6843	VAMP1	ORPHA:251282
HP:0011442	Abnormal central motor function	57192	MCOLN1	OMIM:252650
HP:0011442	Abnormal central motor function	5654	HTRA1	OMIM:600142
HP:0011442	Abnormal central motor function	2512	FTL	ORPHA:157846
HP:0011442	Abnormal central motor function	2512	FTL	OMIM:606159
HP:0011442	Abnormal central motor function	54344	DPM3	ORPHA:263494
HP:0011442	Abnormal central motor function	3658	IREB2	OMIM:618451
HP:0011442	Abnormal central motor function	2583	B4GALNT1	OMIM:609195
HP:0011442	Abnormal central motor function	2583	B4GALNT1	ORPHA:101006
HP:0011442	Abnormal central motor function	5277	PIGA	OMIM:301072
HP:0011442	Abnormal central motor function	4001	LMNB1	ORPHA:99027
HP:0011442	Abnormal central motor function	4001	LMNB1	OMIM:169500
HP:0011442	Abnormal central motor function	23064	SETX	OMIM:602433
HP:0011442	Abnormal central motor function	23064	SETX	ORPHA:64753
HP:0011442	Abnormal central motor function	23064	SETX	ORPHA:357043
HP:0011442	Abnormal central motor function	23111	SPART	OMIM:275900
HP:0011442	Abnormal central motor function	23111	SPART	ORPHA:101000
HP:0011442	Abnormal central motor function	126129	CPT1C	OMIM:616282
HP:0011442	Abnormal central motor function	126129	CPT1C	ORPHA:444099
HP:0011442	Abnormal central motor function	4719	NDUFS1	OMIM:618226
HP:0011442	Abnormal central motor function	4508	MT-ATP6	ORPHA:320360
HP:0011442	Abnormal central motor function	4508	MT-ATP6	ORPHA:225154
HP:0011442	Abnormal central motor function	4508	MT-ATP6	ORPHA:644
HP:0011442	Abnormal central motor function	9256	TSPOAP1	ORPHA:101150
HP:0011442	Abnormal central motor function	7054	TH	ORPHA:101150
HP:0011442	Abnormal central motor function	27235	COQ2	OMIM:146500
HP:0011442	Abnormal central motor function	11160	ERLIN2	ORPHA:209951
HP:0011442	Abnormal central motor function	11160	ERLIN2	OMIM:611225
HP:0011442	Abnormal central motor function	123606	NIPA1	OMIM:600363
HP:0011442	Abnormal central motor function	123606	NIPA1	ORPHA:100988
HP:0011442	Abnormal central motor function	6567	SLC16A2	OMIM:300523
HP:0011442	Abnormal central motor function	6567	SLC16A2	ORPHA:59
HP:0011442	Abnormal central motor function	81790	RNF170	OMIM:619686
HP:0011442	Abnormal central motor function	81790	RNF170	OMIM:608984
HP:0011442	Abnormal central motor function	23114	NFASC	OMIM:618356
HP:0011442	Abnormal central motor function	116461	TSEN15	OMIM:617026
HP:0011442	Abnormal central motor function	116461	TSEN15	ORPHA:2524
HP:0011442	Abnormal central motor function	8492	PRSS12	OMIM:249500
HP:0011442	Abnormal central motor function	443	ASPA	ORPHA:314918
HP:0011442	Abnormal central motor function	443	ASPA	ORPHA:314911
HP:0011442	Abnormal central motor function	5010	CLDN11	OMIM:619328
HP:0011442	Abnormal central motor function	9179	AP4M1	OMIM:612936
HP:0011442	Abnormal central motor function	9179	AP4M1	ORPHA:280763
HP:0011442	Abnormal central motor function	16	AARS1	OMIM:619691
HP:0011442	Abnormal central motor function	547	KIF1A	ORPHA:101010
HP:0011442	Abnormal central motor function	547	KIF1A	OMIM:610357
HP:0011442	Abnormal central motor function	547	KIF1A	OMIM:614255
HP:0011442	Abnormal central motor function	84340	GFM2	ORPHA:565624
HP:0011442	Abnormal central motor function	84340	GFM2	OMIM:618397
HP:0011442	Abnormal central motor function	80224	NUBPL	OMIM:618242
HP:0011442	Abnormal central motor function	4547	MTTP	ORPHA:14
HP:0011442	Abnormal central motor function	5611	DNAJC3	OMIM:616192
HP:0011442	Abnormal central motor function	5611	DNAJC3	ORPHA:445062
HP:0011442	Abnormal central motor function	80821	DDHD1	ORPHA:101008
HP:0011442	Abnormal central motor function	80821	DDHD1	OMIM:609340
HP:0011442	Abnormal central motor function	84668	HYCC1	OMIM:610532
HP:0011442	Abnormal central motor function	87178	PNPT1	ORPHA:101111
HP:0011442	Abnormal central motor function	87178	PNPT1	OMIM:608703
HP:0011442	Abnormal central motor function	9197	SLC33A1	ORPHA:171863
HP:0011442	Abnormal central motor function	9197	SLC33A1	OMIM:612539
HP:0011442	Abnormal central motor function	2892	GRIA3	ORPHA:364028
HP:0011442	Abnormal central motor function	26580	BSCL2	OMIM:619112
HP:0011442	Abnormal central motor function	26580	BSCL2	OMIM:270685
HP:0011442	Abnormal central motor function	26580	BSCL2	ORPHA:100998
HP:0011442	Abnormal central motor function	3839	KPNA3	OMIM:620106
HP:0011442	Abnormal central motor function	3839	KPNA3	ORPHA:171612
HP:0011442	Abnormal central motor function	538	ATP7A	OMIM:309400
HP:0011442	Abnormal central motor function	3032	HADHB	ORPHA:746
HP:0011442	Abnormal central motor function	3030	HADHA	ORPHA:746
HP:0011442	Abnormal central motor function	22978	NT5C2	ORPHA:320396
HP:0011442	Abnormal central motor function	22978	NT5C2	OMIM:613162
HP:0011442	Abnormal central motor function	5375	PMP2	OMIM:618279
HP:0011442	Abnormal central motor function	6472	SHMT2	OMIM:619121
HP:0011442	Abnormal central motor function	6253	RTN2	OMIM:604805
HP:0011442	Abnormal central motor function	6253	RTN2	ORPHA:100993
HP:0011442	Abnormal central motor function	5173	PDYN	ORPHA:101108
HP:0011442	Abnormal central motor function	5173	PDYN	OMIM:610245
HP:0011442	Abnormal central motor function	79152	FA2H	ORPHA:171629
HP:0011442	Abnormal central motor function	79152	FA2H	OMIM:612319
HP:0011442	Abnormal central motor function	57704	GBA2	ORPHA:320391
HP:0011442	Abnormal central motor function	57704	GBA2	OMIM:614409
HP:0011442	Abnormal central motor function	57704	GBA2	ORPHA:352641
HP:0011442	Abnormal central motor function	26278	SACS	OMIM:270550
HP:0011442	Abnormal central motor function	26278	SACS	ORPHA:98
HP:0011442	Abnormal central motor function	23636	NUP62	ORPHA:225154
HP:0011442	Abnormal central motor function	103	ADAR	ORPHA:225154
HP:0011442	Abnormal central motor function	3739	KCNA4	OMIM:618284
HP:0011442	Abnormal central motor function	124454	EARS2	OMIM:614924
HP:0011442	Abnormal central motor function	8139	GAN	ORPHA:643
HP:0011442	Abnormal central motor function	54936	ADPRS	OMIM:618170
HP:0011442	Abnormal central motor function	1678	TIMM8A	ORPHA:52368
HP:0011442	Abnormal central motor function	84842	HPDL	OMIM:619027
HP:0011442	Abnormal central motor function	25793	FBXO7	OMIM:260300
HP:0011442	Abnormal central motor function	25793	FBXO7	ORPHA:171695
HP:0011442	Abnormal central motor function	9131	AIFM1	OMIM:300232
HP:0011442	Abnormal central motor function	9131	AIFM1	ORPHA:83629
HP:0011442	Abnormal central motor function	51218	GLRX5	ORPHA:401866
HP:0011442	Abnormal central motor function	51218	GLRX5	OMIM:616859
HP:0011442	Abnormal central motor function	51506	UFC1	OMIM:618076
HP:0011442	Abnormal central motor function	80055	PGAP1	OMIM:615802
HP:0011442	Abnormal central motor function	80055	PGAP1	ORPHA:401820
HP:0011442	Abnormal central motor function	23431	AP4E1	OMIM:613744
HP:0011442	Abnormal central motor function	23431	AP4E1	ORPHA:280763
HP:0011442	Abnormal central motor function	25778	DSTYK	OMIM:270750
HP:0011442	Abnormal central motor function	116228	COX20	OMIM:619054
HP:0011442	Abnormal central motor function	64207	IRF2BPL	OMIM:618088
HP:0011442	Abnormal central motor function	118813	ZFYVE27	OMIM:610244
HP:0011442	Abnormal central motor function	823	CAPN1	OMIM:616907
HP:0011442	Abnormal central motor function	823	CAPN1	ORPHA:488594
HP:0011442	Abnormal central motor function	10273	STUB1	OMIM:618093
HP:0011442	Abnormal central motor function	10273	STUB1	OMIM:615768
HP:0011442	Abnormal central motor function	22	ABCB7	OMIM:301310
HP:0011442	Abnormal central motor function	100303755	PET117	OMIM:619063
HP:0011442	Abnormal central motor function	4697	NDUFA4	OMIM:619065
HP:0011442	Abnormal central motor function	26090	ABHD12	OMIM:612674
HP:0011442	Abnormal central motor function	144165	PRICKLE1	OMIM:612437
HP:0011442	Abnormal central motor function	1267	CNP	OMIM:619071
HP:0011442	Abnormal central motor function	23533	PIK3R5	ORPHA:64753
HP:0011442	Abnormal central motor function	90624	LYRM7	OMIM:615838
HP:0011442	Abnormal central motor function	23503	ZFYVE26	OMIM:270700
HP:0011442	Abnormal central motor function	23503	ZFYVE26	ORPHA:100996
HP:0011442	Abnormal central motor function	9409	PEX16	OMIM:614877
HP:0011442	Abnormal central motor function	8242	KDM5C	OMIM:300534
HP:0011442	Abnormal central motor function	644096	SDHAF1	ORPHA:3208
HP:0011442	Abnormal central motor function	3329	HSPD1	OMIM:605280
HP:0011442	Abnormal central motor function	3329	HSPD1	ORPHA:100994
HP:0011442	Abnormal central motor function	3329	HSPD1	OMIM:612233
HP:0011442	Abnormal central motor function	3954	LETM1	OMIM:620089
HP:0011442	Abnormal central motor function	4556	MT-TE	ORPHA:2596
HP:0011442	Abnormal central motor function	6314	ATXN7	ORPHA:94147
HP:0011442	Abnormal central motor function	6314	ATXN7	OMIM:164500
HP:0011442	Abnormal central motor function	84188	FAR1	ORPHA:447753
HP:0011442	Abnormal central motor function	3798	KIF5A	ORPHA:100991
HP:0011442	Abnormal central motor function	3798	KIF5A	OMIM:604187
HP:0011442	Abnormal central motor function	6622	SNCA	ORPHA:171695
HP:0011442	Abnormal central motor function	80207	OPA3	OMIM:258501
HP:0011442	Abnormal central motor function	51308	REEP2	OMIM:615625
HP:0011442	Abnormal central motor function	1861	TOR1A	OMIM:128100
HP:0011442	Abnormal central motor function	4976	OPA1	OMIM:210000
HP:0011442	Abnormal central motor function	9420	CYP7B1	ORPHA:100986
HP:0011442	Abnormal central motor function	9420	CYP7B1	OMIM:270800
HP:0011442	Abnormal central motor function	2258	FGF13	OMIM:301058
HP:0011442	Abnormal central motor function	9150	CTDP1	OMIM:604168
HP:0011442	Abnormal central motor function	57505	AARS2	OMIM:615889
HP:0011442	Abnormal central motor function	84679	SLC9A7	OMIM:301024
HP:0011442	Abnormal central motor function	51741	WWOX	OMIM:614322
HP:0011442	Abnormal central motor function	91137	SLC25A46	OMIM:616505
HP:0011442	Abnormal central motor function	1737	DLAT	ORPHA:79244
HP:0011442	Abnormal central motor function	128637	TBC1D20	OMIM:615663
HP:0011442	Abnormal central motor function	58494	JAM2	OMIM:618824
HP:0011442	Abnormal central motor function	22948	CCT5	ORPHA:139578
HP:0011442	Abnormal central motor function	22948	CCT5	OMIM:256840
HP:0011442	Abnormal central motor function	3615	IMPDH2	ORPHA:98808
HP:0011442	Abnormal central motor function	79042	TSEN34	ORPHA:2524
HP:0011442	Abnormal central motor function	51091	SEPSECS	ORPHA:2524
HP:0011442	Abnormal central motor function	271	AMPD2	OMIM:615686
HP:0011442	Abnormal central motor function	57570	TRMT5	OMIM:616539
HP:0011442	Abnormal central motor function	6509	SLC1A4	OMIM:616657
HP:0011442	Abnormal central motor function	9215	LARGE1	OMIM:608840
HP:0011442	Abnormal central motor function	8913	CACNA1G	ORPHA:458803
HP:0011442	Abnormal central motor function	8913	CACNA1G	OMIM:616795
HP:0011442	Abnormal central motor function	29920	PYCR2	OMIM:616420
HP:0011442	Abnormal central motor function	4724	NDUFS4	OMIM:252010
HP:0011442	Abnormal central motor function	8086	AAAS	OMIM:231550
HP:0011442	Abnormal central motor function	51663	ZFR	ORPHA:401840
HP:0011442	Abnormal central motor function	84706	GPT2	ORPHA:477673
HP:0011442	Abnormal central motor function	1968	EIF2S3	OMIM:300148
HP:0011442	Abnormal central motor function	7305	TYROBP	OMIM:221770
HP:0011442	Abnormal central motor function	54820	NDE1	OMIM:614019
HP:0011442	Abnormal central motor function	4338	MOCS2	OMIM:252160
HP:0011442	Abnormal central motor function	2778	GNAS	ORPHA:94089
HP:0011442	Abnormal central motor function	2778	GNAS	ORPHA:79443
HP:0011442	Abnormal central motor function	2778	GNAS	ORPHA:79444
HP:0011442	Abnormal central motor function	8675	STX16	ORPHA:94089
HP:0011442	Abnormal central motor function	2184	FAH	OMIM:276700
HP:0011442	Abnormal central motor function	4714	NDUFB8	ORPHA:70474
HP:0011442	Abnormal central motor function	9213	XPR1	OMIM:616413
HP:0011442	Abnormal central motor function	54112	GPR88	OMIM:616939
HP:0011442	Abnormal central motor function	23499	MACF1	ORPHA:572013
HP:0011442	Abnormal central motor function	23499	MACF1	OMIM:618325
HP:0011442	Abnormal central motor function	5119	CHMP1A	OMIM:614961
HP:0011442	Abnormal central motor function	815	CAMK2A	OMIM:617798
HP:0011442	Abnormal central motor function	1137	CHRNA4	ORPHA:98784
HP:0011442	Abnormal central motor function	1135	CHRNA2	ORPHA:98784
HP:0011442	Abnormal central motor function	57010	CABP4	ORPHA:98784
HP:0011442	Abnormal central motor function	1141	CHRNB2	ORPHA:98784
HP:0011442	Abnormal central motor function	57582	KCNT1	ORPHA:98784
HP:0011442	Abnormal central motor function	1392	CRH	ORPHA:98784
HP:0011442	Abnormal central motor function	9681	DEPDC5	ORPHA:98784
HP:0011442	Abnormal central motor function	22907	DHX30	OMIM:617804
HP:0011442	Abnormal central motor function	57338	JPH3	ORPHA:98934
HP:0011442	Abnormal central motor function	1374	CPT1A	ORPHA:156
HP:0011442	Abnormal central motor function	875	CBS	ORPHA:394
HP:0011442	Abnormal central motor function	3769	KCNJ13	ORPHA:65
HP:0011442	Abnormal central motor function	343035	RD3	ORPHA:65
HP:0011442	Abnormal central motor function	145226	RDH12	ORPHA:65
HP:0011442	Abnormal central motor function	1406	CRX	ORPHA:65
HP:0011442	Abnormal central motor function	57096	RPGRIP1	ORPHA:65
HP:0011442	Abnormal central motor function	10383	TUBB4B	ORPHA:65
HP:0011442	Abnormal central motor function	85015	USP45	ORPHA:65
HP:0011442	Abnormal central motor function	6121	RPE65	ORPHA:65
HP:0011442	Abnormal central motor function	23418	CRB1	ORPHA:65
HP:0011442	Abnormal central motor function	5130	PCYT1A	ORPHA:65
HP:0011442	Abnormal central motor function	392255	GDF6	ORPHA:65
HP:0011442	Abnormal central motor function	392255	GDF6	ORPHA:2345
HP:0011442	Abnormal central motor function	23746	AIPL1	ORPHA:65
HP:0011442	Abnormal central motor function	3000	GUCY2D	ORPHA:65
HP:0011442	Abnormal central motor function	9227	LRAT	ORPHA:65
HP:0011442	Abnormal central motor function	55812	SPATA7	ORPHA:65
HP:0011442	Abnormal central motor function	7287	TULP1	ORPHA:65
HP:0011442	Abnormal central motor function	167691	LCA5	ORPHA:65
HP:0011442	Abnormal central motor function	3614	IMPDH1	ORPHA:65
HP:0011442	Abnormal central motor function	7157	TP53	ORPHA:2807
HP:0011442	Abnormal central motor function	5590	PRKCZ	ORPHA:1606
HP:0011442	Abnormal central motor function	8510	MMP23B	ORPHA:1606
HP:0011442	Abnormal central motor function	7798	LUZP1	ORPHA:1606
HP:0011442	Abnormal central motor function	6497	SKI	ORPHA:1606
HP:0011442	Abnormal central motor function	10630	PDPN	ORPHA:1606
HP:0011442	Abnormal central motor function	3339	HSPG2	ORPHA:1606
HP:0011442	Abnormal central motor function	10277	UBE4B	ORPHA:1606
HP:0011442	Abnormal central motor function	8514	KCNAB2	ORPHA:1606
HP:0011442	Abnormal central motor function	63976	PRDM16	ORPHA:1606
HP:0011442	Abnormal central motor function	54897	CASZ1	ORPHA:1606
HP:0011442	Abnormal central motor function	148789	B3GALNT2	ORPHA:588
HP:0011442	Abnormal central motor function	8517	IKBKG	ORPHA:464
HP:0011442	Abnormal central motor function	9573	GDF3	ORPHA:2345
HP:0011442	Abnormal central motor function	4222	MEOX1	ORPHA:2345
HP:0011442	Abnormal central motor function	55644	OSGEP	ORPHA:2065
HP:0011442	Abnormal central motor function	10785	WDR4	ORPHA:2065
HP:0011442	Abnormal central motor function	55746	NUP133	ORPHA:2065
HP:0011442	Abnormal central motor function	112858	TP53RK	ORPHA:2065
HP:0011442	Abnormal central motor function	5167	ENPP1	ORPHA:758
HP:0011442	Abnormal central motor function	368	ABCC6	ORPHA:758
HP:0011442	Abnormal central motor function	6658	SOX3	ORPHA:3157
HP:0011442	Abnormal central motor function	9915	ARNT2	ORPHA:3157
HP:0011442	Abnormal central motor function	5015	OTX2	ORPHA:3157
HP:0011442	Abnormal central motor function	2548	GAA	OMIM:232300
HP:0011442	Abnormal central motor function	84466	MEGF10	OMIM:614399
HP:0011442	Abnormal central motor function	7167	TPI1	ORPHA:868
HP:0011442	Abnormal central motor function	9531	BAG3	OMIM:612954
HP:0011442	Abnormal central motor function	3508	IGHMBP2	OMIM:604320
HP:0011442	Abnormal central motor function	65055	REEP1	OMIM:620011
HP:0011442	Abnormal central motor function	1183	CLCN4	ORPHA:485350
HP:0011442	Abnormal central motor function	57038	RARS2	OMIM:611523
HP:0011442	Abnormal central motor function	3786	KCNQ3	ORPHA:307
HP:0011442	Abnormal central motor function	22858	CILK1	ORPHA:307
HP:0011442	Abnormal central motor function	8629	JRK	ORPHA:307
HP:0011442	Abnormal central motor function	388015	RTL1	ORPHA:254531
HP:0011442	Abnormal central motor function	388015	RTL1	ORPHA:96184
HP:0011442	Abnormal central motor function	388015	RTL1	ORPHA:254525
HP:0011442	Abnormal central motor function	8788	DLK1	ORPHA:254531
HP:0011442	Abnormal central motor function	8788	DLK1	ORPHA:96184
HP:0011442	Abnormal central motor function	8788	DLK1	ORPHA:254525
HP:0011442	Abnormal central motor function	55384	MEG3	ORPHA:254531
HP:0011442	Abnormal central motor function	55384	MEG3	ORPHA:96184
HP:0011442	Abnormal central motor function	55384	MEG3	ORPHA:254525
HP:0011442	Abnormal central motor function	54914	FOCAD	OMIM:619991
HP:0011442	Abnormal central motor function	7681	MKRN3	OMIM:176270
HP:0011442	Abnormal central motor function	3653	IPW	OMIM:176270
HP:0011442	Abnormal central motor function	54551	MAGEL2	OMIM:176270
HP:0011442	Abnormal central motor function	791114	PWRN1	OMIM:176270
HP:0011442	Abnormal central motor function	100033413	SNORD116-1	OMIM:176270
HP:0011442	Abnormal central motor function	8924	HERC2	OMIM:176270
HP:0011442	Abnormal central motor function	145624	PWAR1	OMIM:176270
HP:0011442	Abnormal central motor function	23742	NPAP1	OMIM:176270
HP:0011442	Abnormal central motor function	338433	SNORD115-1	OMIM:176270
HP:0011442	Abnormal central motor function	9839	ZEB2	ORPHA:261537
HP:0011442	Abnormal central motor function	9839	ZEB2	ORPHA:261552
HP:0011442	Abnormal central motor function	10681	GNB5	OMIM:617182
HP:0011442	Abnormal central motor function	10681	GNB5	ORPHA:542306
HP:0011442	Abnormal central motor function	63895	PIEZO2	OMIM:617146
HP:0011442	Abnormal central motor function	10020	GNE	OMIM:269921
HP:0011442	Abnormal central motor function	2146	EZH2	OMIM:277590
HP:0011442	Abnormal central motor function	54974	THG1L	OMIM:618800
HP:0011442	Abnormal central motor function	7852	CXCR4	ORPHA:51636
HP:0011442	Abnormal central motor function	1523	CUX1	OMIM:618330
HP:0011442	Abnormal central motor function	25782	RAB3GAP2	ORPHA:401830
HP:0011442	Abnormal central motor function	6834	SURF1	ORPHA:255241
HP:0011442	Abnormal central motor function	4729	NDUFV2	ORPHA:255241
HP:0011442	Abnormal central motor function	55967	NDUFA12	ORPHA:255241
HP:0011442	Abnormal central motor function	51204	TACO1	ORPHA:255241
HP:0011442	Abnormal central motor function	4720	NDUFS2	ORPHA:255241
HP:0011442	Abnormal central motor function	4728	NDUFS8	ORPHA:255241
HP:0011442	Abnormal central motor function	137682	NDUFAF6	ORPHA:255241
HP:0011442	Abnormal central motor function	79133	NDUFAF5	ORPHA:255241
HP:0011442	Abnormal central motor function	1355	COX15	ORPHA:255241
HP:0011442	Abnormal central motor function	1892	ECHS1	ORPHA:255241
HP:0011442	Abnormal central motor function	51079	NDUFA13	ORPHA:255241
HP:0011442	Abnormal central motor function	374291	NDUFS7	ORPHA:255241
HP:0011442	Abnormal central motor function	4705	NDUFA10	ORPHA:255241
HP:0011442	Abnormal central motor function	51601	LIPT1	ORPHA:255241
HP:0011442	Abnormal central motor function	4695	NDUFA2	ORPHA:255241
HP:0011442	Abnormal central motor function	4704	NDUFA9	ORPHA:255241
HP:0011442	Abnormal central motor function	340075	ARSI	ORPHA:401815
HP:0011442	Abnormal central motor function	4141	MARS1	ORPHA:401835
HP:0011442	Abnormal central motor function	57498	KIDINS220	ORPHA:521390
HP:0011442	Abnormal central motor function	22872	SEC31A	OMIM:618651
HP:0011442	Abnormal central motor function	60	ACTB	OMIM:607371
HP:0011442	Abnormal central motor function	9640	ZNF592	ORPHA:83472
HP:0011442	Abnormal central motor function	84942	WDR73	ORPHA:83472
HP:0011442	Abnormal central motor function	81570	CLPB	ORPHA:445038
HP:0011442	Abnormal central motor function	6687	SPG7	ORPHA:99013
HP:0011442	Abnormal central motor function	5420	PODXL	ORPHA:391411
HP:0011442	Abnormal central motor function	8867	SYNJ1	ORPHA:391411
HP:0011442	Abnormal central motor function	55367	PIDD1	OMIM:619827
HP:0011442	Abnormal central motor function	6334	SCN8A	OMIM:617080
HP:0011442	Abnormal central motor function	6334	SCN8A	ORPHA:31709
HP:0011442	Abnormal central motor function	111	ADCY5	OMIM:606703
HP:0011442	Abnormal central motor function	5138	PDE2A	OMIM:619150
HP:0011442	Abnormal central motor function	5138	PDE2A	ORPHA:31709
HP:0011442	Abnormal central motor function	51102	MECR	OMIM:617282
HP:0011442	Abnormal central motor function	25970	SH2B1	ORPHA:261197
HP:0011442	Abnormal central motor function	3778	KCNMA1	OMIM:618596
HP:0011442	Abnormal central motor function	3778	KCNMA1	OMIM:609446
HP:0011442	Abnormal central motor function	3778	KCNMA1	ORPHA:79137
HP:0011442	Abnormal central motor function	2902	GRIN1	ORPHA:208447
HP:0011442	Abnormal central motor function	25953	PNKD	ORPHA:98810
HP:0011442	Abnormal central motor function	10134	BCAP31	OMIM:300475
HP:0011442	Abnormal central motor function	10134	BCAP31	ORPHA:369939
HP:0011442	Abnormal central motor function	4072	EPCAM	ORPHA:144
HP:0011442	Abnormal central motor function	4292	MLH1	ORPHA:144
HP:0011442	Abnormal central motor function	5395	PMS2	ORPHA:144
HP:0011442	Abnormal central motor function	27030	MLH3	ORPHA:144
HP:0011442	Abnormal central motor function	22909	FAN1	ORPHA:144
HP:0011442	Abnormal central motor function	7048	TGFBR2	ORPHA:144
HP:0011442	Abnormal central motor function	2956	MSH6	ORPHA:144
HP:0011442	Abnormal central motor function	5378	PMS1	ORPHA:144
HP:0011442	Abnormal central motor function	4436	MSH2	ORPHA:144
HP:0011442	Abnormal central motor function	64218	SEMA4A	ORPHA:440437
HP:0011442	Abnormal central motor function	657	BMPR1A	ORPHA:440437
HP:0011442	Abnormal central motor function	6224	RPS20	ORPHA:440437
HP:0011442	Abnormal central motor function	25914	RTTN	OMIM:614833
HP:0011442	Abnormal central motor function	25914	RTTN	ORPHA:468631
HP:0011442	Abnormal central motor function	224	ALDH3A2	ORPHA:816
HP:0011442	Abnormal central motor function	7343	UBTF	OMIM:617672
HP:0011442	Abnormal central motor function	7343	UBTF	ORPHA:500180
HP:0011442	Abnormal central motor function	3735	KARS1	OMIM:619196
HP:0011442	Abnormal central motor function	9255	AIMP1	OMIM:260600
HP:0011442	Abnormal central motor function	146057	TTBK2	ORPHA:98767
HP:0011442	Abnormal central motor function	2517	FUCA1	ORPHA:349
HP:0011442	Abnormal central motor function	120	ADD3	OMIM:617008
HP:0011442	Abnormal central motor function	259232	NALCN	OMIM:615419
HP:0011442	Abnormal central motor function	35	ACADS	OMIM:201470
HP:0011442	Abnormal central motor function	57468	SLC12A5	OMIM:616645
HP:0011442	Abnormal central motor function	29954	POMT2	ORPHA:370959
HP:0011442	Abnormal central motor function	84197	POMK	ORPHA:370959
HP:0011442	Abnormal central motor function	5264	PHYH	ORPHA:773
HP:0011442	Abnormal central motor function	5191	PEX7	ORPHA:773
HP:0011442	Abnormal central motor function	6606	SMN1	OMIM:253400
HP:0011442	Abnormal central motor function	6607	SMN2	OMIM:253400
HP:0011442	Abnormal central motor function	627	BDNF	ORPHA:893
HP:0011442	Abnormal central motor function	7490	WT1	ORPHA:893
HP:0011442	Abnormal central motor function	28514	DLL1	ORPHA:220386
HP:0011442	Abnormal central motor function	28514	DLL1	ORPHA:93926
HP:0011442	Abnormal central motor function	28514	DLL1	ORPHA:93924
HP:0011442	Abnormal central motor function	28514	DLL1	ORPHA:93925
HP:0011442	Abnormal central motor function	10735	STAG2	ORPHA:220386
HP:0011442	Abnormal central motor function	10735	STAG2	ORPHA:93925
HP:0011442	Abnormal central motor function	6496	SIX3	ORPHA:220386
HP:0011442	Abnormal central motor function	6496	SIX3	ORPHA:93926
HP:0011442	Abnormal central motor function	6496	SIX3	ORPHA:93924
HP:0011442	Abnormal central motor function	6496	SIX3	ORPHA:93925
HP:0011442	Abnormal central motor function	7050	TGIF1	ORPHA:220386
HP:0011442	Abnormal central motor function	7050	TGIF1	ORPHA:93926
HP:0011442	Abnormal central motor function	7050	TGIF1	ORPHA:93924
HP:0011442	Abnormal central motor function	7050	TGIF1	ORPHA:93925
HP:0011442	Abnormal central motor function	4838	NODAL	ORPHA:220386
HP:0011442	Abnormal central motor function	4838	NODAL	ORPHA:93926
HP:0011442	Abnormal central motor function	4838	NODAL	ORPHA:93924
HP:0011442	Abnormal central motor function	4838	NODAL	ORPHA:93925
HP:0011442	Abnormal central motor function	6469	SHH	ORPHA:220386
HP:0011442	Abnormal central motor function	6469	SHH	ORPHA:93926
HP:0011442	Abnormal central motor function	6469	SHH	ORPHA:93924
HP:0011442	Abnormal central motor function	6469	SHH	ORPHA:93925
HP:0011442	Abnormal central motor function	7546	ZIC2	ORPHA:220386
HP:0011442	Abnormal central motor function	7546	ZIC2	ORPHA:93926
HP:0011442	Abnormal central motor function	7546	ZIC2	ORPHA:93924
HP:0011442	Abnormal central motor function	7546	ZIC2	ORPHA:93925
HP:0011442	Abnormal central motor function	6491	STIL	ORPHA:220386
HP:0011442	Abnormal central motor function	6491	STIL	ORPHA:93926
HP:0011442	Abnormal central motor function	6491	STIL	ORPHA:93924
HP:0011442	Abnormal central motor function	6491	STIL	ORPHA:93925
HP:0011442	Abnormal central motor function	2619	GAS1	ORPHA:220386
HP:0011442	Abnormal central motor function	2619	GAS1	ORPHA:93926
HP:0011442	Abnormal central motor function	2619	GAS1	ORPHA:93924
HP:0011442	Abnormal central motor function	2619	GAS1	ORPHA:93925
HP:0011442	Abnormal central motor function	84976	DISP1	ORPHA:220386
HP:0011442	Abnormal central motor function	84976	DISP1	ORPHA:93926
HP:0011442	Abnormal central motor function	84976	DISP1	ORPHA:93924
HP:0011442	Abnormal central motor function	84976	DISP1	ORPHA:93925
HP:0011442	Abnormal central motor function	2736	GLI2	ORPHA:220386
HP:0011442	Abnormal central motor function	2736	GLI2	ORPHA:93926
HP:0011442	Abnormal central motor function	2736	GLI2	ORPHA:93924
HP:0011442	Abnormal central motor function	2736	GLI2	ORPHA:93925
HP:0011442	Abnormal central motor function	8928	FOXH1	ORPHA:220386
HP:0011442	Abnormal central motor function	8928	FOXH1	ORPHA:93926
HP:0011442	Abnormal central motor function	8928	FOXH1	ORPHA:93924
HP:0011442	Abnormal central motor function	8928	FOXH1	ORPHA:93925
HP:0011442	Abnormal central motor function	5727	PTCH1	ORPHA:220386
HP:0011442	Abnormal central motor function	5727	PTCH1	ORPHA:93926
HP:0011442	Abnormal central motor function	5727	PTCH1	ORPHA:93924
HP:0011442	Abnormal central motor function	5727	PTCH1	ORPHA:93925
HP:0011442	Abnormal central motor function	50937	CDON	ORPHA:220386
HP:0011442	Abnormal central motor function	50937	CDON	ORPHA:93926
HP:0011442	Abnormal central motor function	50937	CDON	ORPHA:93924
HP:0011442	Abnormal central motor function	50937	CDON	ORPHA:93925
HP:0011442	Abnormal central motor function	55823	VPS11	ORPHA:466934
HP:0011442	Abnormal central motor function	23007	PLCH1	ORPHA:93925
HP:0011442	Abnormal central motor function	38	ACAT1	ORPHA:134
HP:0011442	Abnormal central motor function	80746	TSEN2	OMIM:612389
HP:0011442	Abnormal central motor function	283989	TSEN54	OMIM:277470
HP:0011442	Abnormal central motor function	1807	DPYS	OMIM:222748
HP:0011442	Abnormal central motor function	23230	VPS13A	OMIM:200150
HP:0011442	Abnormal central motor function	3759	KCNJ2	OMIM:170390
HP:0011442	Abnormal central motor function	3759	KCNJ2	ORPHA:37553
HP:0011442	Abnormal central motor function	3762	KCNJ5	ORPHA:37553
HP:0011442	Abnormal central motor function	5422	POLA1	OMIM:301030
HP:0011442	Abnormal central motor function	54809	SAMD9	OMIM:617053
HP:0011442	Abnormal central motor function	162417	NAGS	ORPHA:927
HP:0011442	Abnormal central motor function	5921	RASA1	ORPHA:90307
HP:0011442	Abnormal central motor function	3897	L1CAM	OMIM:303350
HP:0011442	Abnormal central motor function	150468	CKAP2L	ORPHA:3255
HP:0011442	Abnormal central motor function	126792	B3GALT6	OMIM:271640
HP:0011442	Abnormal central motor function	8314	BAP1	ORPHA:2495
HP:0011442	Abnormal central motor function	4771	NF2	ORPHA:2495
HP:0011442	Abnormal central motor function	84231	TRAF7	ORPHA:2495
HP:0011442	Abnormal central motor function	6608	SMO	ORPHA:2495
HP:0011442	Abnormal central motor function	207	AKT1	ORPHA:2495
HP:0011442	Abnormal central motor function	7015	TERT	ORPHA:2495
HP:0011442	Abnormal central motor function	6605	SMARCE1	ORPHA:2495
HP:0011442	Abnormal central motor function	4841	NONO	ORPHA:466791
HP:0011442	Abnormal central motor function	4841	NONO	OMIM:300967
HP:0011442	Abnormal central motor function	6535	SLC6A8	OMIM:300352
HP:0011442	Abnormal central motor function	253738	EBF3	OMIM:617330
HP:0011442	Abnormal central motor function	284058	KANSL1	ORPHA:363958
HP:0011442	Abnormal central motor function	284058	KANSL1	ORPHA:363965
HP:0011442	Abnormal central motor function	5728	PTEN	OMIM:605309
HP:0011442	Abnormal central motor function	5457	POU4F1	OMIM:619352
HP:0011442	Abnormal central motor function	27086	FOXP1	OMIM:613670
HP:0011442	Abnormal central motor function	23135	KDM6B	OMIM:618505
HP:0011442	Abnormal central motor function	7874	USP7	OMIM:616863
HP:0011442	Abnormal central motor function	60684	TRAPPC11	OMIM:615356
HP:0011442	Abnormal central motor function	93986	FOXP2	ORPHA:209908
HP:0011442	Abnormal central motor function	84282	RNF135	ORPHA:137634
HP:0011442	Abnormal central motor function	1107	CHD3	OMIM:618205
HP:0011442	Abnormal central motor function	9969	MED13	OMIM:618009
HP:0011442	Abnormal central motor function	5575	PRKAR1B	OMIM:619680
HP:0011442	Abnormal central motor function	1105	CHD1	OMIM:617682
HP:0011442	Abnormal central motor function	1105	CHD1	ORPHA:529965
HP:0011442	Abnormal central motor function	1760	DMPK	ORPHA:589821
HP:0011442	Abnormal central motor function	55690	PACS1	OMIM:615009
HP:0011442	Abnormal central motor function	10847	SRCAP	ORPHA:2044
HP:0011442	Abnormal central motor function	10743	RAI1	ORPHA:1713
HP:0011442	Abnormal central motor function	10166	SLC25A15	ORPHA:415
HP:0011442	Abnormal central motor function	2584	GALK1	ORPHA:79237
HP:0011442	Abnormal central motor function	79029	AFG2B	OMIM:619616
HP:0011442	Abnormal central motor function	3155	HMGCL	ORPHA:20
HP:0011442	Abnormal central motor function	55697	VAC14	OMIM:617054
HP:0011442	Abnormal central motor function	959	CD40LG	OMIM:308230
HP:0011442	Abnormal central motor function	154881	KCTD7	ORPHA:263516
HP:0011442	Abnormal central motor function	23498	HAAO	OMIM:617660
HP:0011442	Abnormal central motor function	667	DST	OMIM:614653
HP:0011442	Abnormal central motor function	3747	KCNC2	OMIM:619913
HP:0011442	Abnormal central motor function	6096	RORB	OMIM:618357
HP:0011442	Abnormal central motor function	6529	SLC6A1	OMIM:616421
HP:0011442	Abnormal central motor function	1719	DHFR	OMIM:613839
HP:0011442	Abnormal central motor function	6792	CDKL5	ORPHA:3095
HP:0011442	Abnormal central motor function	22854	NTNG1	ORPHA:3095
HP:0011442	Abnormal central motor function	9568	GABBR2	ORPHA:3095
HP:0011442	Abnormal central motor function	4204	MECP2	ORPHA:3095
HP:0011442	Abnormal central motor function	8243	SMC1A	ORPHA:3095
HP:0011442	Abnormal central motor function	8398	PLA2G6	OMIM:612953
HP:0011442	Abnormal central motor function	9829	DNAJC6	OMIM:615528
HP:0011442	Abnormal central motor function	85465	SELENOI	ORPHA:506353
HP:0011442	Abnormal central motor function	6711	SPTBN1	OMIM:619475
HP:0011442	Abnormal central motor function	25814	ATXN10	ORPHA:98761
HP:0011442	Abnormal central motor function	2898	GRIK2	OMIM:611092
HP:0011442	Abnormal central motor function	4128	MAOA	OMIM:300615
HP:0011442	Abnormal central motor function	10939	AFG3L2	ORPHA:101109
HP:0011442	Abnormal central motor function	63929	XPNPEP3	OMIM:613159
HP:0011442	Abnormal central motor function	100996717	NOTCH2NLC	OMIM:618866
HP:0011442	Abnormal central motor function	84919	PPP1R15B	OMIM:616817
HP:0011442	Abnormal central motor function	3475	IFRD1	ORPHA:98771
HP:0011442	Abnormal central motor function	10531	PITRM1	OMIM:619405
HP:0011442	Abnormal central motor function	5521	PPP2R2B	ORPHA:98762
HP:0011442	Abnormal central motor function	3708	ITPR1	ORPHA:98769
HP:0011442	Abnormal central motor function	22880	MORC2	ORPHA:466768
HP:0011442	Abnormal central motor function	26011	TENM4	OMIM:616736
HP:0011442	Abnormal central motor function	4604	MYBPC1	OMIM:618524
HP:0011442	Abnormal central motor function	5741	PTH	OMIM:146200
HP:0011442	Abnormal central motor function	587	BCAT2	OMIM:618850
HP:0011442	Abnormal central motor function	27327	TNRC6A	OMIM:618074
HP:0011442	Abnormal central motor function	9693	RAPGEF2	OMIM:618075
HP:0011442	Abnormal central motor function	197258	FCSK	OMIM:618324
HP:0011442	Abnormal central motor function	55331	ACER3	OMIM:617762
HP:0011442	Abnormal central motor function	160418	TMTC3	OMIM:617255
HP:0011442	Abnormal central motor function	819	CAMLG	OMIM:620201
HP:0011442	Abnormal central motor function	5238	PGM3	ORPHA:443811
HP:0011442	Abnormal central motor function	5238	PGM3	OMIM:615816
HP:0011442	Abnormal central motor function	2767	GNA11	ORPHA:428
HP:0011442	Abnormal central motor function	846	CASR	ORPHA:428
HP:0011442	Abnormal central motor function	8912	CACNA1H	ORPHA:64280
HP:0011442	Abnormal central motor function	8367	H4C5	OMIM:619950
HP:0011442	Abnormal central motor function	776	CACNA1D	OMIM:615474
HP:0011442	Abnormal central motor function	776	CACNA1D	ORPHA:369929
HP:0011442	Abnormal central motor function	26053	AUTS2	OMIM:615834
HP:0011442	Abnormal central motor function	26053	AUTS2	ORPHA:352490
HP:0011442	Abnormal central motor function	51692	CPSF3	OMIM:619876
HP:0011442	Abnormal central motor function	4897	NRCAM	OMIM:619833
HP:0011442	Abnormal central motor function	3425	IDUA	ORPHA:93474
HP:0011442	Abnormal central motor function	3425	IDUA	ORPHA:93473
HP:0011442	Abnormal central motor function	1776	DNASE1L3	ORPHA:36412
HP:0011442	Abnormal central motor function	6697	SPR	ORPHA:70594
HP:0011442	Abnormal central motor function	7436	VLDLR	ORPHA:1766
HP:0011442	Abnormal central motor function	124997	WDR81	ORPHA:1766
HP:0011442	Abnormal central motor function	51761	ATP8A2	ORPHA:1766
HP:0011442	Abnormal central motor function	767	CA8	ORPHA:1766
HP:0011442	Abnormal central motor function	26047	CNTNAP2	ORPHA:163681
HP:0011442	Abnormal central motor function	51611	DPH5	OMIM:620070
HP:0011442	Abnormal central motor function	51633	OTUD6B	ORPHA:505237
HP:0011442	Abnormal central motor function	6531	SLC6A3	ORPHA:238455
HP:0011442	Abnormal central motor function	23291	FBXW11	OMIM:618914
HP:0011442	Abnormal central motor function	2555	GABRA2	OMIM:618557
HP:0011442	Abnormal central motor function	6598	SMARCB1	ORPHA:99966
HP:0011442	Abnormal central motor function	2811	GP1BA	ORPHA:853
HP:0011442	Abnormal central motor function	2812	GP1BB	ORPHA:853
HP:0011442	Abnormal central motor function	3674	ITGA2B	ORPHA:853
HP:0011442	Abnormal central motor function	3673	ITGA2	ORPHA:853
HP:0011442	Abnormal central motor function	135228	CD109	ORPHA:853
HP:0011442	Abnormal central motor function	3690	ITGB3	ORPHA:853
HP:0011442	Abnormal central motor function	5624	PROC	OMIM:612304
HP:0011442	Abnormal central motor function	23189	KANK1	OMIM:612900
HP:0011442	Abnormal central motor function	84081	NSRP1	OMIM:620001
HP:0011442	Abnormal central motor function	64087	MCCC2	OMIM:210210
HP:0011442	Abnormal central motor function	83550	GPR101	ORPHA:963
HP:0011442	Abnormal central motor function	9049	AIP	ORPHA:963
HP:0011442	Abnormal central motor function	3248	HPGD	ORPHA:2796
HP:0011442	Abnormal central motor function	6578	SLCO2A1	ORPHA:2796
HP:0011442	Abnormal central motor function	8884	SLC5A6	OMIM:618973
HP:0011442	Abnormal central motor function	1641	DCX	ORPHA:2148
HP:0011442	Abnormal central motor function	23152	CIC	OMIM:617600
HP:0011442	Abnormal central motor function	3418	IDH2	ORPHA:163634
HP:0011442	Abnormal central motor function	3417	IDH1	ORPHA:163634
HP:0011442	Abnormal central motor function	5092	PCBD1	ORPHA:1578
HP:0011442	Abnormal central motor function	29960	MRM2	OMIM:618567
HP:0011442	Abnormal central motor function	5610	EIF2AK2	OMIM:618877
HP:0011442	Abnormal central motor function	10846	PDE10A	OMIM:616921
HP:0011442	Abnormal central motor function	10846	PDE10A	ORPHA:494526
HP:0011442	Abnormal central motor function	6857	SYT1	ORPHA:522077
HP:0011442	Abnormal central motor function	3704	ITPA	OMIM:616647
HP:0011442	Abnormal central motor function	9578	CDC42BPB	OMIM:619841
HP:0011443	Abnormality of coordination	26191	PTPN22	ORPHA:397
HP:0011443	Abnormality of coordination	3106	HLA-B	ORPHA:397
HP:0011443	Abnormality of coordination	3106	HLA-B	ORPHA:117
HP:0011443	Abnormality of coordination	3123	HLA-DRB1	ORPHA:397
HP:0011443	Abnormality of coordination	8974	P4HA2	ORPHA:397
HP:0011443	Abnormality of coordination	4524	MTHFR	ORPHA:395
HP:0011443	Abnormality of coordination	26235	FBXL4	OMIM:615471
HP:0011443	Abnormality of coordination	340533	NEXMIF	OMIM:300912
HP:0011443	Abnormality of coordination	340533	NEXMIF	ORPHA:1942
HP:0011443	Abnormality of coordination	54101	RIPK4	ORPHA:1401
HP:0011443	Abnormality of coordination	5238	PGM3	ORPHA:443811
HP:0011443	Abnormality of coordination	5238	PGM3	OMIM:615816
HP:0011443	Abnormality of coordination	4897	NRCAM	OMIM:619833
HP:0011443	Abnormality of coordination	84334	COA8	ORPHA:436271
HP:0011443	Abnormality of coordination	84334	COA8	OMIM:619061
HP:0011443	Abnormality of coordination	1786	DNMT1	ORPHA:314404
HP:0011443	Abnormality of coordination	1786	DNMT1	OMIM:614116
HP:0011443	Abnormality of coordination	1786	DNMT1	OMIM:604121
HP:0011443	Abnormality of coordination	51099	ABHD5	OMIM:275630
HP:0011443	Abnormality of coordination	51099	ABHD5	ORPHA:98907
HP:0011443	Abnormality of coordination	5631	PRPS1	ORPHA:99014
HP:0011443	Abnormality of coordination	5631	PRPS1	OMIM:301835
HP:0011443	Abnormality of coordination	5631	PRPS1	ORPHA:411543
HP:0011443	Abnormality of coordination	5631	PRPS1	ORPHA:1187
HP:0011443	Abnormality of coordination	5631	PRPS1	OMIM:300661
HP:0011443	Abnormality of coordination	2593	GAMT	ORPHA:382
HP:0011443	Abnormality of coordination	2593	GAMT	OMIM:612736
HP:0011443	Abnormality of coordination	6616	SNAP25	OMIM:616330
HP:0011443	Abnormality of coordination	6616	SNAP25	ORPHA:98914
HP:0011443	Abnormality of coordination	23322	RPGRIP1L	ORPHA:220497
HP:0011443	Abnormality of coordination	23322	RPGRIP1L	ORPHA:1454
HP:0011443	Abnormality of coordination	23322	RPGRIP1L	OMIM:619113
HP:0011443	Abnormality of coordination	23322	RPGRIP1L	OMIM:611560
HP:0011443	Abnormality of coordination	4867	NPHP1	ORPHA:220497
HP:0011443	Abnormality of coordination	4867	NPHP1	ORPHA:3156
HP:0011443	Abnormality of coordination	4867	NPHP1	OMIM:609583
HP:0011443	Abnormality of coordination	65062	TMEM237	ORPHA:220497
HP:0011443	Abnormality of coordination	65062	TMEM237	ORPHA:2318
HP:0011443	Abnormality of coordination	65062	TMEM237	ORPHA:475
HP:0011443	Abnormality of coordination	65062	TMEM237	OMIM:614424
HP:0011443	Abnormality of coordination	27245	AHDC1	ORPHA:412069
HP:0011443	Abnormality of coordination	7532	YWHAG	OMIM:617665
HP:0011443	Abnormality of coordination	7532	YWHAG	ORPHA:442835
HP:0011443	Abnormality of coordination	54806	AHI1	ORPHA:220493
HP:0011443	Abnormality of coordination	54806	AHI1	ORPHA:475
HP:0011443	Abnormality of coordination	54806	AHI1	OMIM:608629
HP:0011443	Abnormality of coordination	56623	INPP5E	ORPHA:220493
HP:0011443	Abnormality of coordination	56623	INPP5E	OMIM:213300
HP:0011443	Abnormality of coordination	56623	INPP5E	ORPHA:1454
HP:0011443	Abnormality of coordination	56623	INPP5E	ORPHA:475
HP:0011443	Abnormality of coordination	153241	CEP120	ORPHA:220493
HP:0011443	Abnormality of coordination	153241	CEP120	ORPHA:475
HP:0011443	Abnormality of coordination	54903	MKS1	ORPHA:220493
HP:0011443	Abnormality of coordination	54903	MKS1	ORPHA:475
HP:0011443	Abnormality of coordination	54903	MKS1	OMIM:617121
HP:0011443	Abnormality of coordination	95681	CEP41	ORPHA:220493
HP:0011443	Abnormality of coordination	95681	CEP41	ORPHA:475
HP:0011443	Abnormality of coordination	95681	CEP41	OMIM:614464
HP:0011443	Abnormality of coordination	1161	ERCC8	OMIM:216400
HP:0011443	Abnormality of coordination	1161	ERCC8	ORPHA:90321
HP:0011443	Abnormality of coordination	1161	ERCC8	ORPHA:90322
HP:0011443	Abnormality of coordination	100996717	NOTCH2NLC	OMIM:603472
HP:0011443	Abnormality of coordination	100996717	NOTCH2NLC	OMIM:619473
HP:0011443	Abnormality of coordination	100996717	NOTCH2NLC	OMIM:618866
HP:0011443	Abnormality of coordination	100996717	NOTCH2NLC	ORPHA:2289
HP:0011443	Abnormality of coordination	10111	RAD50	OMIM:613078
HP:0011443	Abnormality of coordination	84100	ARL6	OMIM:209900
HP:0011443	Abnormality of coordination	79140	CCDC28B	OMIM:209900
HP:0011443	Abnormality of coordination	582	BBS1	OMIM:209900
HP:0011443	Abnormality of coordination	2697	GJA1	ORPHA:2710
HP:0011443	Abnormality of coordination	2697	GJA1	OMIM:164200
HP:0011443	Abnormality of coordination	1130	LYST	ORPHA:167
HP:0011443	Abnormality of coordination	1130	LYST	OMIM:214500
HP:0011443	Abnormality of coordination	4558	MT-TF	OMIM:545000
HP:0011443	Abnormality of coordination	4558	MT-TF	ORPHA:551
HP:0011443	Abnormality of coordination	4558	MT-TF	ORPHA:550
HP:0011443	Abnormality of coordination	4571	MT-TP	OMIM:545000
HP:0011443	Abnormality of coordination	4571	MT-TP	ORPHA:551
HP:0011443	Abnormality of coordination	4565	MT-TI	OMIM:545000
HP:0011443	Abnormality of coordination	23312	DMXL2	OMIM:616113
HP:0011443	Abnormality of coordination	23312	DMXL2	ORPHA:453533
HP:0011443	Abnormality of coordination	57231	SNX14	OMIM:616354
HP:0011443	Abnormality of coordination	57231	SNX14	ORPHA:397709
HP:0011443	Abnormality of coordination	23327	NEDD4L	OMIM:617201
HP:0011443	Abnormality of coordination	5073	PARN	OMIM:616353
HP:0011443	Abnormality of coordination	5073	PARN	ORPHA:3322
HP:0011443	Abnormality of coordination	5813	PURA	ORPHA:438216
HP:0011443	Abnormality of coordination	3340	NDST1	OMIM:616116
HP:0011443	Abnormality of coordination	6905	TBCE	OMIM:617207
HP:0011443	Abnormality of coordination	9131	AIFM1	ORPHA:101078
HP:0011443	Abnormality of coordination	9131	AIFM1	OMIM:300232
HP:0011443	Abnormality of coordination	3737	KCNA2	OMIM:616366
HP:0011443	Abnormality of coordination	3737	KCNA2	ORPHA:442835
HP:0011443	Abnormality of coordination	55773	TBC1D23	OMIM:617695
HP:0011443	Abnormality of coordination	3098	HK1	OMIM:618547
HP:0011443	Abnormality of coordination	4720	NDUFS2	ORPHA:104
HP:0011443	Abnormality of coordination	4720	NDUFS2	ORPHA:2609
HP:0011443	Abnormality of coordination	4720	NDUFS2	OMIM:618228
HP:0011443	Abnormality of coordination	4720	NDUFS2	ORPHA:70474
HP:0011443	Abnormality of coordination	4512	MT-CO1	ORPHA:104
HP:0011443	Abnormality of coordination	4512	MT-CO1	ORPHA:550
HP:0011443	Abnormality of coordination	4514	MT-CO3	ORPHA:104
HP:0011443	Abnormality of coordination	4514	MT-CO3	OMIM:535000
HP:0011443	Abnormality of coordination	4514	MT-CO3	ORPHA:550
HP:0011443	Abnormality of coordination	4519	MT-CYB	ORPHA:104
HP:0011443	Abnormality of coordination	4519	MT-CYB	OMIM:535000
HP:0011443	Abnormality of coordination	4539	MT-ND4L	ORPHA:104
HP:0011443	Abnormality of coordination	4539	MT-ND4L	OMIM:535000
HP:0011443	Abnormality of coordination	4598	MVK	ORPHA:343
HP:0011443	Abnormality of coordination	4598	MVK	ORPHA:29
HP:0011443	Abnormality of coordination	4598	MVK	OMIM:610377
HP:0011443	Abnormality of coordination	472	ATM	ORPHA:100
HP:0011443	Abnormality of coordination	472	ATM	OMIM:208900
HP:0011443	Abnormality of coordination	3766	KCNJ10	ORPHA:199343
HP:0011443	Abnormality of coordination	3766	KCNJ10	OMIM:612780
HP:0011443	Abnormality of coordination	3766	KCNJ10	ORPHA:705
HP:0011443	Abnormality of coordination	4644	MYO5A	ORPHA:33445
HP:0011443	Abnormality of coordination	4644	MYO5A	ORPHA:79476
HP:0011443	Abnormality of coordination	1615	DARS1	OMIM:615281
HP:0011443	Abnormality of coordination	3773	KCNJ16	OMIM:619406
HP:0011443	Abnormality of coordination	79633	FAT4	ORPHA:314679
HP:0011443	Abnormality of coordination	8642	DCHS1	ORPHA:314679
HP:0011443	Abnormality of coordination	57192	MCOLN1	ORPHA:578
HP:0011443	Abnormality of coordination	51567	TDP2	ORPHA:404493
HP:0011443	Abnormality of coordination	51567	TDP2	OMIM:616949
HP:0011443	Abnormality of coordination	38	ACAT1	ORPHA:134
HP:0011443	Abnormality of coordination	57679	ALS2	OMIM:205100
HP:0011443	Abnormality of coordination	57679	ALS2	ORPHA:300605
HP:0011443	Abnormality of coordination	4615	MYD88	ORPHA:33226
HP:0011443	Abnormality of coordination	2629	GBA1	ORPHA:77261
HP:0011443	Abnormality of coordination	2629	GBA1	OMIM:231000
HP:0011443	Abnormality of coordination	10533	ATG7	OMIM:619422
HP:0011443	Abnormality of coordination	1917	EEF1A2	OMIM:616393
HP:0011443	Abnormality of coordination	1917	EEF1A2	ORPHA:442835
HP:0011443	Abnormality of coordination	9742	IFT140	OMIM:266920
HP:0011443	Abnormality of coordination	5728	PTEN	ORPHA:65285
HP:0011443	Abnormality of coordination	5728	PTEN	ORPHA:201
HP:0011443	Abnormality of coordination	81603	TRIM8	OMIM:619428
HP:0011443	Abnormality of coordination	165918	RNF168	OMIM:611943
HP:0011443	Abnormality of coordination	165918	RNF168	ORPHA:420741
HP:0011443	Abnormality of coordination	149233	IL23R	ORPHA:117
HP:0011443	Abnormality of coordination	6775	STAT4	ORPHA:117
HP:0011443	Abnormality of coordination	3586	IL10	ORPHA:117
HP:0011443	Abnormality of coordination	4210	MEFV	ORPHA:117
HP:0011443	Abnormality of coordination	1230	CCR1	ORPHA:117
HP:0011443	Abnormality of coordination	355	FAS	ORPHA:117
HP:0011443	Abnormality of coordination	3592	IL12A	ORPHA:117
HP:0011443	Abnormality of coordination	101928376	IL12A-AS1	ORPHA:117
HP:0011443	Abnormality of coordination	7099	TLR4	ORPHA:117
HP:0011443	Abnormality of coordination	3459	IFNGR1	ORPHA:117
HP:0011443	Abnormality of coordination	720	C4A	ORPHA:117
HP:0011443	Abnormality of coordination	337867	UBAC2	ORPHA:117
HP:0011443	Abnormality of coordination	51752	ERAP1	ORPHA:117
HP:0011443	Abnormality of coordination	8302	KLRC4	ORPHA:117
HP:0011443	Abnormality of coordination	435	ASL	ORPHA:23
HP:0011443	Abnormality of coordination	435	ASL	OMIM:207900
HP:0011443	Abnormality of coordination	4549	MT-RNR1	ORPHA:551
HP:0011443	Abnormality of coordination	4574	MT-TS1	ORPHA:551
HP:0011443	Abnormality of coordination	4574	MT-TS1	ORPHA:550
HP:0011443	Abnormality of coordination	4574	MT-TS1	OMIM:220110
HP:0011443	Abnormality of coordination	4575	MT-TS2	ORPHA:551
HP:0011443	Abnormality of coordination	4575	MT-TS2	ORPHA:550
HP:0011443	Abnormality of coordination	4575	MT-TS2	ORPHA:231183
HP:0011443	Abnormality of coordination	4572	MT-TQ	ORPHA:551
HP:0011443	Abnormality of coordination	4572	MT-TQ	ORPHA:550
HP:0011443	Abnormality of coordination	4564	MT-TH	ORPHA:551
HP:0011443	Abnormality of coordination	4564	MT-TH	ORPHA:550
HP:0011443	Abnormality of coordination	2639	GCDH	ORPHA:25
HP:0011443	Abnormality of coordination	2074	ERCC6	OMIM:133540
HP:0011443	Abnormality of coordination	2074	ERCC6	ORPHA:90321
HP:0011443	Abnormality of coordination	2074	ERCC6	ORPHA:90322
HP:0011443	Abnormality of coordination	2074	ERCC6	OMIM:278800
HP:0011443	Abnormality of coordination	3155	HMGCL	ORPHA:20
HP:0011443	Abnormality of coordination	4513	MT-CO2	ORPHA:550
HP:0011443	Abnormality of coordination	7915	ALDH5A1	ORPHA:22
HP:0011443	Abnormality of coordination	7915	ALDH5A1	OMIM:271980
HP:0011443	Abnormality of coordination	56896	DPYSL5	OMIM:619435
HP:0011443	Abnormality of coordination	1859	DYRK1A	ORPHA:268261
HP:0011443	Abnormality of coordination	1859	DYRK1A	OMIM:614104
HP:0011443	Abnormality of coordination	123606	NIPA1	ORPHA:261183
HP:0011443	Abnormality of coordination	7283	TUBG1	ORPHA:261183
HP:0011443	Abnormality of coordination	81614	NIPA2	ORPHA:261183
HP:0011443	Abnormality of coordination	51259	TMEM216	OMIM:608091
HP:0011443	Abnormality of coordination	51259	TMEM216	ORPHA:2318
HP:0011443	Abnormality of coordination	51259	TMEM216	ORPHA:2754
HP:0011443	Abnormality of coordination	9526	MPDU1	OMIM:609180
HP:0011443	Abnormality of coordination	1476	CSTB	ORPHA:308
HP:0011443	Abnormality of coordination	1476	CSTB	OMIM:254800
HP:0011443	Abnormality of coordination	7084	TK2	ORPHA:254886
HP:0011443	Abnormality of coordination	6567	SLC16A2	OMIM:300523
HP:0011443	Abnormality of coordination	6567	SLC16A2	ORPHA:59
HP:0011443	Abnormality of coordination	64801	ARV1	OMIM:617020
HP:0011443	Abnormality of coordination	64801	ARV1	ORPHA:442835
HP:0011443	Abnormality of coordination	6647	SOD1	OMIM:618598
HP:0011443	Abnormality of coordination	55182	RNF220	OMIM:619688
HP:0011443	Abnormality of coordination	3767	KCNJ11	ORPHA:99885
HP:0011443	Abnormality of coordination	6774	STAT3	ORPHA:99885
HP:0011443	Abnormality of coordination	2645	GCK	ORPHA:99885
HP:0011443	Abnormality of coordination	3651	PDX1	ORPHA:99885
HP:0011443	Abnormality of coordination	6833	ABCC8	ORPHA:99885
HP:0011443	Abnormality of coordination	6833	ABCC8	OMIM:240800
HP:0011443	Abnormality of coordination	3630	INS	ORPHA:99885
HP:0011443	Abnormality of coordination	7337	UBE3A	ORPHA:98794
HP:0011443	Abnormality of coordination	7337	UBE3A	ORPHA:411511
HP:0011443	Abnormality of coordination	7337	UBE3A	ORPHA:411515
HP:0011443	Abnormality of coordination	7337	UBE3A	OMIM:105830
HP:0011443	Abnormality of coordination	7337	UBE3A	ORPHA:238446
HP:0011443	Abnormality of coordination	4948	OCA2	ORPHA:98794
HP:0011443	Abnormality of coordination	55777	MBD5	OMIM:156200
HP:0011443	Abnormality of coordination	55777	MBD5	ORPHA:228402
HP:0011443	Abnormality of coordination	347733	TUBB2B	ORPHA:467166
HP:0011443	Abnormality of coordination	347733	TUBB2B	ORPHA:1766
HP:0011443	Abnormality of coordination	7846	TUBA1A	ORPHA:467166
HP:0011443	Abnormality of coordination	7846	TUBA1A	OMIM:611603
HP:0011443	Abnormality of coordination	10381	TUBB3	ORPHA:467166
HP:0011443	Abnormality of coordination	8888	MCM3AP	OMIM:618124
HP:0011443	Abnormality of coordination	4141	MARS1	OMIM:619692
HP:0011443	Abnormality of coordination	3746	KCNC1	OMIM:616187
HP:0011443	Abnormality of coordination	1201	CLN3	ORPHA:228346
HP:0011443	Abnormality of coordination	549	AUH	OMIM:250950
HP:0011443	Abnormality of coordination	6821	SUOX	OMIM:272300
HP:0011443	Abnormality of coordination	2632	GBE1	ORPHA:206583
HP:0011443	Abnormality of coordination	5805	PTS	ORPHA:13
HP:0011443	Abnormality of coordination	5805	PTS	OMIM:261640
HP:0011443	Abnormality of coordination	51102	MECR	OMIM:617282
HP:0011443	Abnormality of coordination	51102	MECR	ORPHA:508093
HP:0011443	Abnormality of coordination	2743	GLRB	ORPHA:3197
HP:0011443	Abnormality of coordination	2741	GLRA1	ORPHA:3197
HP:0011443	Abnormality of coordination	10243	GPHN	ORPHA:3197
HP:0011443	Abnormality of coordination	84896	ATAD1	ORPHA:3197
HP:0011443	Abnormality of coordination	9152	SLC6A5	ORPHA:3197
HP:0011443	Abnormality of coordination	6390	SDHB	OMIM:619224
HP:0011443	Abnormality of coordination	6390	SDHB	ORPHA:3208
HP:0011443	Abnormality of coordination	6390	SDHB	ORPHA:201
HP:0011443	Abnormality of coordination	55630	SLC39A4	OMIM:201100
HP:0011443	Abnormality of coordination	9758	FRMPD4	OMIM:300983
HP:0011443	Abnormality of coordination	3188	HNRNPH2	OMIM:300986
HP:0011443	Abnormality of coordination	6304	SATB1	OMIM:619228
HP:0011443	Abnormality of coordination	6304	SATB1	OMIM:619229
HP:0011443	Abnormality of coordination	51763	INPP5K	ORPHA:559
HP:0011443	Abnormality of coordination	220296	HEPACAM	OMIM:613925
HP:0011443	Abnormality of coordination	220296	HEPACAM	OMIM:604004
HP:0011443	Abnormality of coordination	27107	ZBTB11	OMIM:618383
HP:0011443	Abnormality of coordination	94005	PIGS	OMIM:618143
HP:0011443	Abnormality of coordination	6711	SPTBN1	OMIM:619475
HP:0011443	Abnormality of coordination	378884	NHLRC1	ORPHA:501
HP:0011443	Abnormality of coordination	7957	EPM2A	ORPHA:501
HP:0011443	Abnormality of coordination	1457	CSNK2A1	OMIM:617062
HP:0011443	Abnormality of coordination	6872	TAF1	OMIM:300966
HP:0011443	Abnormality of coordination	4841	NONO	OMIM:300967
HP:0011443	Abnormality of coordination	4841	NONO	ORPHA:466791
HP:0011443	Abnormality of coordination	5625	PRODH	OMIM:239500
HP:0011443	Abnormality of coordination	6663	SOX10	OMIM:609136
HP:0011443	Abnormality of coordination	6663	SOX10	ORPHA:163746
HP:0011443	Abnormality of coordination	6663	SOX10	ORPHA:478
HP:0011443	Abnormality of coordination	55670	PEX26	ORPHA:772
HP:0011443	Abnormality of coordination	5824	PEX19	ORPHA:772
HP:0011443	Abnormality of coordination	8504	PEX3	ORPHA:772
HP:0011443	Abnormality of coordination	8799	PEX11B	ORPHA:772
HP:0011443	Abnormality of coordination	5830	PEX5	ORPHA:772
HP:0011443	Abnormality of coordination	5189	PEX1	ORPHA:772
HP:0011443	Abnormality of coordination	5193	PEX12	ORPHA:772
HP:0011443	Abnormality of coordination	5193	PEX12	OMIM:266510
HP:0011443	Abnormality of coordination	5194	PEX13	ORPHA:772
HP:0011443	Abnormality of coordination	5195	PEX14	ORPHA:772
HP:0011443	Abnormality of coordination	403	ARL3	OMIM:618161
HP:0011443	Abnormality of coordination	403	ARL3	ORPHA:475
HP:0011443	Abnormality of coordination	5264	PHYH	ORPHA:773
HP:0011443	Abnormality of coordination	5264	PHYH	OMIM:266500
HP:0011443	Abnormality of coordination	5191	PEX7	ORPHA:773
HP:0011443	Abnormality of coordination	5191	PEX7	OMIM:614879
HP:0011443	Abnormality of coordination	5191	PEX7	OMIM:266500
HP:0011443	Abnormality of coordination	3090	HIC1	ORPHA:531
HP:0011443	Abnormality of coordination	5048	PAFAH1B1	ORPHA:531
HP:0011443	Abnormality of coordination	7531	YWHAE	ORPHA:531
HP:0011443	Abnormality of coordination	727676	SNORD118	ORPHA:542310
HP:0011443	Abnormality of coordination	727676	SNORD118	OMIM:614561
HP:0011443	Abnormality of coordination	54187	NANS	OMIM:610442
HP:0011443	Abnormality of coordination	203190	LGI3	OMIM:620007
HP:0011443	Abnormality of coordination	91147	TMEM67	OMIM:610688
HP:0011443	Abnormality of coordination	91147	TMEM67	OMIM:216360
HP:0011443	Abnormality of coordination	91147	TMEM67	ORPHA:1454
HP:0011443	Abnormality of coordination	91147	TMEM67	ORPHA:475
HP:0011443	Abnormality of coordination	4860	PNP	ORPHA:760
HP:0011443	Abnormality of coordination	4860	PNP	OMIM:613179
HP:0011443	Abnormality of coordination	64802	NMNAT1	OMIM:619260
HP:0011443	Abnormality of coordination	1496	CTNNA2	OMIM:618174
HP:0011443	Abnormality of coordination	6559	SLC12A3	OMIM:263800
HP:0011443	Abnormality of coordination	1373	CPS1	OMIM:237300
HP:0011443	Abnormality of coordination	284111	SLC13A5	OMIM:615905
HP:0011443	Abnormality of coordination	284111	SLC13A5	ORPHA:442835
HP:0011443	Abnormality of coordination	26146	TRAF3IP1	ORPHA:3156
HP:0011443	Abnormality of coordination	9657	IQCB1	ORPHA:3156
HP:0011443	Abnormality of coordination	10806	SDCCAG8	ORPHA:3156
HP:0011443	Abnormality of coordination	27130	INVS	ORPHA:3156
HP:0011443	Abnormality of coordination	80184	CEP290	ORPHA:3156
HP:0011443	Abnormality of coordination	80184	CEP290	OMIM:610188
HP:0011443	Abnormality of coordination	80184	CEP290	ORPHA:2318
HP:0011443	Abnormality of coordination	261734	NPHP4	ORPHA:3156
HP:0011443	Abnormality of coordination	57728	WDR19	ORPHA:3156
HP:0011443	Abnormality of coordination	27031	NPHP3	ORPHA:3156
HP:0011443	Abnormality of coordination	22897	CEP164	ORPHA:3156
HP:0011443	Abnormality of coordination	55294	FBXW7	OMIM:620012
HP:0011443	Abnormality of coordination	6095	RORA	OMIM:618060
HP:0011443	Abnormality of coordination	5138	PDE2A	OMIM:619150
HP:0011443	Abnormality of coordination	5009	OTC	OMIM:311250
HP:0011443	Abnormality of coordination	1593	CYP27A1	OMIM:213700
HP:0011443	Abnormality of coordination	1593	CYP27A1	ORPHA:909
HP:0011443	Abnormality of coordination	785	CACNB4	OMIM:613855
HP:0011443	Abnormality of coordination	785	CACNB4	ORPHA:211067
HP:0011443	Abnormality of coordination	324	APC	ORPHA:99818
HP:0011443	Abnormality of coordination	123263	MTFMT	OMIM:614947
HP:0011443	Abnormality of coordination	123263	MTFMT	OMIM:618248
HP:0011443	Abnormality of coordination	2896	GRN	OMIM:614706
HP:0011443	Abnormality of coordination	55775	TDP1	ORPHA:94124
HP:0011443	Abnormality of coordination	55775	TDP1	OMIM:607250
HP:0011443	Abnormality of coordination	79581	SLC52A2	OMIM:614707
HP:0011443	Abnormality of coordination	2038	EPB42	ORPHA:822
HP:0011443	Abnormality of coordination	6521	SLC4A1	ORPHA:822
HP:0011443	Abnormality of coordination	6710	SPTB	ORPHA:822
HP:0011443	Abnormality of coordination	6708	SPTA1	ORPHA:822
HP:0011443	Abnormality of coordination	286	ANK1	ORPHA:822
HP:0011443	Abnormality of coordination	6535	SLC6A8	ORPHA:52503
HP:0011443	Abnormality of coordination	51506	UFC1	OMIM:618076
HP:0011443	Abnormality of coordination	6392	SDHD	OMIM:619167
HP:0011443	Abnormality of coordination	6392	SDHD	ORPHA:3208
HP:0011443	Abnormality of coordination	6392	SDHD	ORPHA:201
HP:0011443	Abnormality of coordination	9640	ZNF592	ORPHA:83472
HP:0011443	Abnormality of coordination	84942	WDR73	ORPHA:83472
HP:0011443	Abnormality of coordination	84942	WDR73	OMIM:251300
HP:0011443	Abnormality of coordination	54476	RNF216	OMIM:212840
HP:0011443	Abnormality of coordination	54476	RNF216	ORPHA:1173
HP:0011443	Abnormality of coordination	4884	NPTX1	OMIM:620158
HP:0011443	Abnormality of coordination	25839	COG4	ORPHA:263501
HP:0011443	Abnormality of coordination	25839	COG4	OMIM:613489
HP:0011443	Abnormality of coordination	84992	PIGY	ORPHA:247262
HP:0011443	Abnormality of coordination	84720	PIGO	ORPHA:247262
HP:0011443	Abnormality of coordination	93210	PGAP3	ORPHA:247262
HP:0011443	Abnormality of coordination	284098	PIGW	ORPHA:247262
HP:0011443	Abnormality of coordination	27315	PGAP2	ORPHA:247262
HP:0011443	Abnormality of coordination	55650	PIGV	ORPHA:247262
HP:0011443	Abnormality of coordination	1738	DLD	ORPHA:2394
HP:0011443	Abnormality of coordination	1738	DLD	OMIM:246900
HP:0011443	Abnormality of coordination	1716	DGUOK	ORPHA:329314
HP:0011443	Abnormality of coordination	5080	PAX6	ORPHA:1065
HP:0011443	Abnormality of coordination	114034	TOE1	OMIM:614969
HP:0011443	Abnormality of coordination	1509	CTSD	OMIM:610127
HP:0011443	Abnormality of coordination	29967	LRP12	OMIM:164310
HP:0011443	Abnormality of coordination	9570	GOSR2	OMIM:620166
HP:0011443	Abnormality of coordination	9570	GOSR2	OMIM:614018
HP:0011443	Abnormality of coordination	57531	HACE1	ORPHA:464282
HP:0011443	Abnormality of coordination	57531	HACE1	OMIM:616756
HP:0011443	Abnormality of coordination	10367	MICU1	ORPHA:401768
HP:0011443	Abnormality of coordination	10367	MICU1	OMIM:615673
HP:0011443	Abnormality of coordination	9445	ITM2B	OMIM:117300
HP:0011443	Abnormality of coordination	84342	COG8	ORPHA:95428
HP:0011443	Abnormality of coordination	84342	COG8	OMIM:611182
HP:0011443	Abnormality of coordination	11284	PNKP	OMIM:613402
HP:0011443	Abnormality of coordination	11284	PNKP	ORPHA:459033
HP:0011443	Abnormality of coordination	11284	PNKP	OMIM:616267
HP:0011443	Abnormality of coordination	113235	SLC46A1	OMIM:229050
HP:0011443	Abnormality of coordination	113278	SLC52A3	OMIM:211530
HP:0011443	Abnormality of coordination	3735	KARS1	OMIM:619196
HP:0011443	Abnormality of coordination	1798	DPAGT1	ORPHA:86309
HP:0011443	Abnormality of coordination	7840	ALMS1	ORPHA:64
HP:0011443	Abnormality of coordination	2512	FTL	OMIM:606159
HP:0011443	Abnormality of coordination	1629	DBT	OMIM:248600
HP:0011443	Abnormality of coordination	593	BCKDHA	OMIM:248600
HP:0011443	Abnormality of coordination	594	BCKDHB	OMIM:248600
HP:0011443	Abnormality of coordination	6507	SLC1A3	ORPHA:2131
HP:0011443	Abnormality of coordination	6507	SLC1A3	ORPHA:209967
HP:0011443	Abnormality of coordination	90624	LYRM7	OMIM:615838
HP:0011443	Abnormality of coordination	493856	CISD2	ORPHA:3463
HP:0011443	Abnormality of coordination	7466	WFS1	ORPHA:3463
HP:0011443	Abnormality of coordination	7466	WFS1	OMIM:222300
HP:0011443	Abnormality of coordination	80025	PANK2	OMIM:234200
HP:0011443	Abnormality of coordination	25894	PLEKHG4	ORPHA:98765
HP:0011443	Abnormality of coordination	23503	ZFYVE26	OMIM:270700
HP:0011443	Abnormality of coordination	283209	PGM2L1	OMIM:620191
HP:0011443	Abnormality of coordination	1737	DLAT	OMIM:245348
HP:0011443	Abnormality of coordination	492	ATP2B3	OMIM:302500
HP:0011443	Abnormality of coordination	8050	PDHX	OMIM:245349
HP:0011443	Abnormality of coordination	2934	GSN	ORPHA:85448
HP:0011443	Abnormality of coordination	1910	EDNRB	OMIM:277580
HP:0011443	Abnormality of coordination	3662	IRF4	ORPHA:3452
HP:0011443	Abnormality of coordination	55343	SLC35C1	ORPHA:99843
HP:0011443	Abnormality of coordination	34	ACADM	ORPHA:42
HP:0011443	Abnormality of coordination	8813	DPM1	OMIM:608799
HP:0011443	Abnormality of coordination	8813	DPM1	ORPHA:79322
HP:0011443	Abnormality of coordination	340024	SLC6A19	ORPHA:2116
HP:0011443	Abnormality of coordination	57393	CLTRN	ORPHA:2116
HP:0011443	Abnormality of coordination	644096	SDHAF1	ORPHA:3208
HP:0011443	Abnormality of coordination	445	ASS1	OMIM:215700
HP:0011443	Abnormality of coordination	5663	PSEN1	ORPHA:1020
HP:0011443	Abnormality of coordination	5664	PSEN2	ORPHA:1020
HP:0011443	Abnormality of coordination	10452	TOMM40	ORPHA:1020
HP:0011443	Abnormality of coordination	351	APP	ORPHA:1020
HP:0011443	Abnormality of coordination	54209	TREM2	ORPHA:1020
HP:0011443	Abnormality of coordination	10347	ABCA7	ORPHA:1020
HP:0011443	Abnormality of coordination	6653	SORL1	ORPHA:1020
HP:0011443	Abnormality of coordination	10815	CPLX1	ORPHA:352582
HP:0011443	Abnormality of coordination	10815	CPLX1	ORPHA:280
HP:0011443	Abnormality of coordination	80331	DNAJC5	OMIM:162350
HP:0011443	Abnormality of coordination	22907	DHX30	OMIM:617804
HP:0011443	Abnormality of coordination	51308	REEP2	OMIM:615625
HP:0011443	Abnormality of coordination	9894	TELO2	OMIM:616954
HP:0011443	Abnormality of coordination	9894	TELO2	ORPHA:488642
HP:0011443	Abnormality of coordination	3798	KIF5A	OMIM:604187
HP:0011443	Abnormality of coordination	6513	SLC2A1	ORPHA:71277
HP:0011443	Abnormality of coordination	6513	SLC2A1	OMIM:612126
HP:0011443	Abnormality of coordination	6513	SLC2A1	OMIM:606777
HP:0011443	Abnormality of coordination	6513	SLC2A1	ORPHA:1942
HP:0011443	Abnormality of coordination	6513	SLC2A1	ORPHA:168577
HP:0011443	Abnormality of coordination	6513	SLC2A1	ORPHA:98811
HP:0011443	Abnormality of coordination	6513	SLC2A1	OMIM:608885
HP:0011443	Abnormality of coordination	6323	SCN1A	OMIM:607208
HP:0011443	Abnormality of coordination	6323	SCN1A	ORPHA:1942
HP:0011443	Abnormality of coordination	6323	SCN1A	OMIM:619317
HP:0011443	Abnormality of coordination	6323	SCN1A	ORPHA:36387
HP:0011443	Abnormality of coordination	348980	HCN1	OMIM:615871
HP:0011443	Abnormality of coordination	348980	HCN1	ORPHA:442835
HP:0011443	Abnormality of coordination	348980	HCN1	ORPHA:36387
HP:0011443	Abnormality of coordination	79848	CSPP1	OMIM:615636
HP:0011443	Abnormality of coordination	79848	CSPP1	ORPHA:475
HP:0011443	Abnormality of coordination	6948	TCN2	OMIM:275350
HP:0011443	Abnormality of coordination	23600	AMACR	OMIM:614307
HP:0011443	Abnormality of coordination	23600	AMACR	ORPHA:79095
HP:0011443	Abnormality of coordination	6261	RYR1	ORPHA:466650
HP:0011443	Abnormality of coordination	1776	DNASE1L3	ORPHA:36412
HP:0011443	Abnormality of coordination	84816	RTN4IP1	OMIM:616732
HP:0011443	Abnormality of coordination	131118	DNAJC19	OMIM:610198
HP:0011443	Abnormality of coordination	131118	DNAJC19	ORPHA:66634
HP:0011443	Abnormality of coordination	998	CDC42	OMIM:616737
HP:0011443	Abnormality of coordination	57505	AARS2	OMIM:615889
HP:0011443	Abnormality of coordination	50	ACO2	OMIM:614559
HP:0011443	Abnormality of coordination	3097	HIVEP2	OMIM:616977
HP:0011443	Abnormality of coordination	3897	L1CAM	ORPHA:306617
HP:0011443	Abnormality of coordination	767	CA8	OMIM:613227
HP:0011443	Abnormality of coordination	767	CA8	ORPHA:1766
HP:0011443	Abnormality of coordination	26277	TINF2	OMIM:127550
HP:0011443	Abnormality of coordination	26277	TINF2	OMIM:268130
HP:0011443	Abnormality of coordination	26277	TINF2	OMIM:613990
HP:0011443	Abnormality of coordination	26277	TINF2	ORPHA:3322
HP:0011443	Abnormality of coordination	7012	TERC	OMIM:127550
HP:0011443	Abnormality of coordination	7015	TERT	OMIM:127550
HP:0011443	Abnormality of coordination	7015	TERT	ORPHA:2495
HP:0011443	Abnormality of coordination	7015	TERT	ORPHA:3322
HP:0011443	Abnormality of coordination	2561	GABRB2	OMIM:617829
HP:0011443	Abnormality of coordination	2561	GABRB2	ORPHA:442835
HP:0011443	Abnormality of coordination	4694	NDUFA1	OMIM:301020
HP:0011443	Abnormality of coordination	4694	NDUFA1	ORPHA:2609
HP:0011443	Abnormality of coordination	2821	GPI	OMIM:613470
HP:0011443	Abnormality of coordination	10560	SLC19A2	OMIM:249270
HP:0011443	Abnormality of coordination	4358	MPV17	OMIM:256810
HP:0011443	Abnormality of coordination	79947	DHDDS	OMIM:617836
HP:0011443	Abnormality of coordination	79947	DHDDS	ORPHA:442835
HP:0011443	Abnormality of coordination	79583	TMEM231	ORPHA:2318
HP:0011443	Abnormality of coordination	51524	TMEM138	ORPHA:2318
HP:0011443	Abnormality of coordination	23090	ZNF423	ORPHA:2318
HP:0011443	Abnormality of coordination	57545	CC2D2A	ORPHA:2318
HP:0011443	Abnormality of coordination	57545	CC2D2A	ORPHA:1454
HP:0011443	Abnormality of coordination	1213	CLTC	OMIM:617854
HP:0011443	Abnormality of coordination	1213	CLTC	ORPHA:442835
HP:0011443	Abnormality of coordination	28514	DLL1	OMIM:618709
HP:0011443	Abnormality of coordination	80781	COL18A1	OMIM:267750
HP:0011443	Abnormality of coordination	56910	STARD7	OMIM:607876
HP:0011443	Abnormality of coordination	26503	SLC17A5	OMIM:604369
HP:0011443	Abnormality of coordination	6182	MRPL12	OMIM:618951
HP:0011443	Abnormality of coordination	57688	ZSWIM6	OMIM:617865
HP:0011443	Abnormality of coordination	51816	ADA2	OMIM:615688
HP:0011443	Abnormality of coordination	60482	SLC5A7	ORPHA:98914
HP:0011443	Abnormality of coordination	4649	MYO9A	ORPHA:98914
HP:0011443	Abnormality of coordination	1305	COL13A1	ORPHA:98914
HP:0011443	Abnormality of coordination	1103	CHAT	ORPHA:98914
HP:0011443	Abnormality of coordination	6576	SLC25A1	ORPHA:98914
HP:0011443	Abnormality of coordination	6843	VAMP1	ORPHA:98914
HP:0011443	Abnormality of coordination	375790	AGRN	ORPHA:98914
HP:0011443	Abnormality of coordination	127833	SYT2	ORPHA:98914
HP:0011443	Abnormality of coordination	6572	SLC18A3	ORPHA:98914
HP:0011443	Abnormality of coordination	617	BCS1L	OMIM:124000
HP:0011443	Abnormality of coordination	80208	SPG11	OMIM:604360
HP:0011443	Abnormality of coordination	80208	SPG11	ORPHA:2822
HP:0011443	Abnormality of coordination	80208	SPG11	ORPHA:300605
HP:0011443	Abnormality of coordination	10577	NPC2	OMIM:607625
HP:0011443	Abnormality of coordination	9731	CEP104	OMIM:616781
HP:0011443	Abnormality of coordination	9731	CEP104	ORPHA:475
HP:0011443	Abnormality of coordination	4724	NDUFS4	OMIM:252010
HP:0011443	Abnormality of coordination	4724	NDUFS4	ORPHA:2609
HP:0011443	Abnormality of coordination	23389	MED13L	OMIM:616789
HP:0011443	Abnormality of coordination	23389	MED13L	ORPHA:369891
HP:0011443	Abnormality of coordination	8481	OFD1	ORPHA:2750
HP:0011443	Abnormality of coordination	8481	OFD1	ORPHA:2754
HP:0011443	Abnormality of coordination	3778	KCNMA1	OMIM:618729
HP:0011443	Abnormality of coordination	8086	AAAS	OMIM:231550
HP:0011443	Abnormality of coordination	8086	AAAS	ORPHA:869
HP:0011443	Abnormality of coordination	10210	TOPORS	ORPHA:2754
HP:0011443	Abnormality of coordination	9851	KIAA0753	ORPHA:2754
HP:0011443	Abnormality of coordination	26123	TCTN3	ORPHA:2754
HP:0011443	Abnormality of coordination	5147	PDE6D	ORPHA:2754
HP:0011443	Abnormality of coordination	65250	CPLANE1	ORPHA:2754
HP:0011443	Abnormality of coordination	65250	CPLANE1	ORPHA:475
HP:0011443	Abnormality of coordination	65250	CPLANE1	OMIM:614615
HP:0011443	Abnormality of coordination	317662	FAM149B1	ORPHA:2754
HP:0011443	Abnormality of coordination	374654	KIF7	ORPHA:2754
HP:0011443	Abnormality of coordination	9699	RIMS2	OMIM:618970
HP:0011443	Abnormality of coordination	672	BRCA1	OMIM:617883
HP:0011443	Abnormality of coordination	80169	CTC1	OMIM:612199
HP:0011443	Abnormality of coordination	6638	SNRPN	ORPHA:411515
HP:0011443	Abnormality of coordination	6638	SNRPN	OMIM:105830
HP:0011443	Abnormality of coordination	57194	ATP10A	ORPHA:411515
HP:0011443	Abnormality of coordination	56978	PRDM8	ORPHA:324290
HP:0011443	Abnormality of coordination	56978	PRDM8	OMIM:616640
HP:0011443	Abnormality of coordination	4287	ATXN3	OMIM:109150
HP:0011443	Abnormality of coordination	54539	NDUFB11	ORPHA:2609
HP:0011443	Abnormality of coordination	25915	NDUFAF3	ORPHA:2609
HP:0011443	Abnormality of coordination	25915	NDUFAF3	ORPHA:70474
HP:0011443	Abnormality of coordination	51103	NDUFAF1	ORPHA:2609
HP:0011443	Abnormality of coordination	4716	NDUFB10	ORPHA:2609
HP:0011443	Abnormality of coordination	4723	NDUFV1	ORPHA:2609
HP:0011443	Abnormality of coordination	4723	NDUFV1	OMIM:618225
HP:0011443	Abnormality of coordination	55572	FOXRED1	ORPHA:2609
HP:0011443	Abnormality of coordination	284184	NDUFAF8	ORPHA:2609
HP:0011443	Abnormality of coordination	55863	TMEM126B	ORPHA:2609
HP:0011443	Abnormality of coordination	4729	NDUFV2	ORPHA:2609
HP:0011443	Abnormality of coordination	4726	NDUFS6	ORPHA:2609
HP:0011443	Abnormality of coordination	4728	NDUFS8	ORPHA:2609
HP:0011443	Abnormality of coordination	4722	NDUFS3	ORPHA:2609
HP:0011443	Abnormality of coordination	79133	NDUFAF5	ORPHA:2609
HP:0011443	Abnormality of coordination	126328	NDUFA11	ORPHA:2609
HP:0011443	Abnormality of coordination	4709	NDUFB3	ORPHA:2609
HP:0011443	Abnormality of coordination	80224	NUBPL	ORPHA:2609
HP:0011443	Abnormality of coordination	80224	NUBPL	OMIM:618242
HP:0011443	Abnormality of coordination	29078	NDUFAF4	ORPHA:2609
HP:0011443	Abnormality of coordination	374291	NDUFS7	ORPHA:2609
HP:0011443	Abnormality of coordination	374291	NDUFS7	OMIM:618224
HP:0011443	Abnormality of coordination	4700	NDUFA6	ORPHA:2609
HP:0011443	Abnormality of coordination	4719	NDUFS1	ORPHA:2609
HP:0011443	Abnormality of coordination	4719	NDUFS1	OMIM:618226
HP:0011443	Abnormality of coordination	4715	NDUFB9	ORPHA:2609
HP:0011443	Abnormality of coordination	29925	GMPPB	OMIM:615350
HP:0011443	Abnormality of coordination	8367	H4C5	OMIM:619950
HP:0011443	Abnormality of coordination	6834	SURF1	OMIM:616684
HP:0011443	Abnormality of coordination	6834	SURF1	OMIM:220110
HP:0011443	Abnormality of coordination	6834	SURF1	ORPHA:70474
HP:0011443	Abnormality of coordination	8518	ELP1	ORPHA:1764
HP:0011443	Abnormality of coordination	60684	TRAPPC11	OMIM:615356
HP:0011443	Abnormality of coordination	60684	TRAPPC11	ORPHA:869
HP:0011443	Abnormality of coordination	2720	GLB1	OMIM:230600
HP:0011443	Abnormality of coordination	2720	GLB1	OMIM:230650
HP:0011443	Abnormality of coordination	2720	GLB1	OMIM:253010
HP:0011443	Abnormality of coordination	1736	DKC1	OMIM:305000
HP:0011443	Abnormality of coordination	1736	DKC1	ORPHA:3322
HP:0011443	Abnormality of coordination	2072	ERCC4	ORPHA:90321
HP:0011443	Abnormality of coordination	2072	ERCC4	ORPHA:910
HP:0011443	Abnormality of coordination	2072	ERCC4	OMIM:278760
HP:0011443	Abnormality of coordination	2072	ERCC4	ORPHA:220295
HP:0011443	Abnormality of coordination	51761	ATP8A2	ORPHA:1766
HP:0011443	Abnormality of coordination	2067	ERCC1	ORPHA:90322
HP:0011443	Abnormality of coordination	10026	PIGK	OMIM:618879
HP:0011443	Abnormality of coordination	101060691	NUTM2B-AS1	OMIM:618637
HP:0011443	Abnormality of coordination	54982	CLN6	OMIM:204300
HP:0011443	Abnormality of coordination	10501	SEMA6B	OMIM:618876
HP:0011443	Abnormality of coordination	3781	KCNN2	OMIM:619725
HP:0011443	Abnormality of coordination	23474	ETHE1	ORPHA:51188
HP:0011443	Abnormality of coordination	23474	ETHE1	OMIM:602473
HP:0011443	Abnormality of coordination	10559	SLC35A1	OMIM:603585
HP:0011443	Abnormality of coordination	535	ATP6V0A1	OMIM:619971
HP:0011443	Abnormality of coordination	91869	RFT1	ORPHA:244310
HP:0011443	Abnormality of coordination	91869	RFT1	OMIM:612015
HP:0011443	Abnormality of coordination	816	CAMK2B	OMIM:617799
HP:0011443	Abnormality of coordination	7920	ABHD16A	OMIM:619735
HP:0011443	Abnormality of coordination	7469	NELFA	ORPHA:280
HP:0011443	Abnormality of coordination	7468	NSD2	ORPHA:280
HP:0011443	Abnormality of coordination	54968	TMEM70	OMIM:614052
HP:0011443	Abnormality of coordination	83636	C19orf12	OMIM:614298
HP:0011443	Abnormality of coordination	84314	TMEM107	OMIM:617563
HP:0011443	Abnormality of coordination	84314	TMEM107	OMIM:617562
HP:0011443	Abnormality of coordination	388962	BOLA3	OMIM:614299
HP:0011443	Abnormality of coordination	1759	DNM1	ORPHA:442835
HP:0011443	Abnormality of coordination	8120	AP3B2	ORPHA:442835
HP:0011443	Abnormality of coordination	523	ATP6V1A	ORPHA:442835
HP:0011443	Abnormality of coordination	10991	SLC38A3	ORPHA:442835
HP:0011443	Abnormality of coordination	22906	TRAK1	ORPHA:442835
HP:0011443	Abnormality of coordination	2566	GABRG2	ORPHA:442835
HP:0011443	Abnormality of coordination	2566	GABRG2	ORPHA:36387
HP:0011443	Abnormality of coordination	8831	SYNGAP1	ORPHA:442835
HP:0011443	Abnormality of coordination	8831	SYNGAP1	ORPHA:1942
HP:0011443	Abnormality of coordination	8831	SYNGAP1	ORPHA:544254
HP:0011443	Abnormality of coordination	6328	SCN3A	ORPHA:442835
HP:0011443	Abnormality of coordination	2558	GABRA5	ORPHA:442835
HP:0011443	Abnormality of coordination	781	CACNA2D1	ORPHA:442835
HP:0011443	Abnormality of coordination	2906	GRIN2D	ORPHA:442835
HP:0011443	Abnormality of coordination	10659	CELF2	ORPHA:442835
HP:0011443	Abnormality of coordination	774	CACNA1B	ORPHA:442835
HP:0011443	Abnormality of coordination	23334	SZT2	ORPHA:442835
HP:0011443	Abnormality of coordination	51412	ACTL6B	ORPHA:442835
HP:0011443	Abnormality of coordination	6506	SLC1A2	ORPHA:442835
HP:0011443	Abnormality of coordination	2258	FGF13	ORPHA:442835
HP:0011443	Abnormality of coordination	3745	KCNB1	ORPHA:442835
HP:0011443	Abnormality of coordination	25977	NECAP1	ORPHA:442835
HP:0011443	Abnormality of coordination	16	AARS1	ORPHA:442835
HP:0011443	Abnormality of coordination	22866	CNKSR2	ORPHA:442835
HP:0011443	Abnormality of coordination	2555	GABRA2	ORPHA:442835
HP:0011443	Abnormality of coordination	55152	DALRD3	ORPHA:442835
HP:0011443	Abnormality of coordination	26999	CYFIP2	ORPHA:442835
HP:0011443	Abnormality of coordination	4915	NTRK2	ORPHA:442835
HP:0011443	Abnormality of coordination	25973	PARS2	ORPHA:442835
HP:0011443	Abnormality of coordination	23097	CDK19	ORPHA:442835
HP:0011443	Abnormality of coordination	2257	FGF12	ORPHA:442835
HP:0011443	Abnormality of coordination	2257	FGF12	OMIM:617166
HP:0011443	Abnormality of coordination	5530	PPP3CA	ORPHA:442835
HP:0011443	Abnormality of coordination	284439	SLC25A42	OMIM:618416
HP:0011443	Abnormality of coordination	79600	TCTN1	ORPHA:475
HP:0011443	Abnormality of coordination	51684	SUFU	ORPHA:475
HP:0011443	Abnormality of coordination	51684	SUFU	ORPHA:2495
HP:0011443	Abnormality of coordination	51684	SUFU	OMIM:617757
HP:0011443	Abnormality of coordination	200894	ARL13B	ORPHA:475
HP:0011443	Abnormality of coordination	200894	ARL13B	OMIM:612291
HP:0011443	Abnormality of coordination	219844	HYLS1	ORPHA:475
HP:0011443	Abnormality of coordination	23247	KATNIP	ORPHA:475
HP:0011443	Abnormality of coordination	219854	TMEM218	ORPHA:475
HP:0011443	Abnormality of coordination	9786	KIAA0586	ORPHA:475
HP:0011443	Abnormality of coordination	80776	B9D2	ORPHA:475
HP:0011443	Abnormality of coordination	10464	PIBF1	ORPHA:475
HP:0011443	Abnormality of coordination	10464	PIBF1	OMIM:617767
HP:0011443	Abnormality of coordination	80210	ARMC9	ORPHA:475
HP:0011443	Abnormality of coordination	23116	TOGARAM1	ORPHA:475
HP:0011443	Abnormality of coordination	25776	CBY1	ORPHA:475
HP:0011443	Abnormality of coordination	84879	MFSD2A	OMIM:616486
HP:0011443	Abnormality of coordination	8879	SGPL1	OMIM:617575
HP:0011443	Abnormality of coordination	51604	PIGT	OMIM:615398
HP:0011443	Abnormality of coordination	84504	NKX6-2	ORPHA:527497
HP:0011443	Abnormality of coordination	27089	UQCRQ	OMIM:615159
HP:0011443	Abnormality of coordination	7701	ZNF142	OMIM:618425
HP:0011443	Abnormality of coordination	8021	NUP214	OMIM:618426
HP:0011443	Abnormality of coordination	4556	MT-TE	ORPHA:225
HP:0011443	Abnormality of coordination	285362	SUMF1	OMIM:272200
HP:0011443	Abnormality of coordination	5551	PRF1	OMIM:603553
HP:0011443	Abnormality of coordination	26137	ZBTB20	OMIM:259050
HP:0011443	Abnormality of coordination	51633	OTUD6B	ORPHA:505237
HP:0011443	Abnormality of coordination	9533	POLR1C	OMIM:616494
HP:0011443	Abnormality of coordination	9533	POLR1C	ORPHA:88637
HP:0011443	Abnormality of coordination	79991	STN1	OMIM:617341
HP:0011443	Abnormality of coordination	6942	TCF20	OMIM:618430
HP:0011443	Abnormality of coordination	256471	MFSD8	OMIM:610951
HP:0011443	Abnormality of coordination	2729	GCLC	ORPHA:33574
HP:0011443	Abnormality of coordination	23162	MAPK8IP3	OMIM:618443
HP:0011443	Abnormality of coordination	2562	GABRB3	OMIM:617113
HP:0011443	Abnormality of coordination	84833	ATP5MK	OMIM:618683
HP:0011443	Abnormality of coordination	29929	ALG6	ORPHA:79320
HP:0011443	Abnormality of coordination	29929	ALG6	OMIM:603147
HP:0011443	Abnormality of coordination	1106	CHD2	ORPHA:1942
HP:0011443	Abnormality of coordination	6529	SLC6A1	ORPHA:1942
HP:0011443	Abnormality of coordination	6529	SLC6A1	OMIM:616421
HP:0011443	Abnormality of coordination	79053	ALG8	ORPHA:79325
HP:0011443	Abnormality of coordination	29893	PSMC3IP	ORPHA:243
HP:0011443	Abnormality of coordination	171568	POLR3H	ORPHA:243
HP:0011443	Abnormality of coordination	2516	NR5A1	ORPHA:243
HP:0011443	Abnormality of coordination	125150	ZSWIM7	ORPHA:243
HP:0011443	Abnormality of coordination	9210	BMP15	ORPHA:243
HP:0011443	Abnormality of coordination	57122	NUP107	ORPHA:243
HP:0011443	Abnormality of coordination	23514	SPIDR	ORPHA:243
HP:0011443	Abnormality of coordination	2492	FSHR	ORPHA:243
HP:0011443	Abnormality of coordination	56945	MRPS22	ORPHA:243
HP:0011443	Abnormality of coordination	646	BNC1	ORPHA:243
HP:0011443	Abnormality of coordination	3730	ANOS1	OMIM:308700
HP:0011443	Abnormality of coordination	3730	ANOS1	ORPHA:478
HP:0011443	Abnormality of coordination	4509	MT-ATP8	ORPHA:480
HP:0011443	Abnormality of coordination	81570	CLPB	OMIM:616271
HP:0011443	Abnormality of coordination	6857	SYT1	OMIM:618218
HP:0011443	Abnormality of coordination	6857	SYT1	ORPHA:522077
HP:0011443	Abnormality of coordination	5277	PIGA	OMIM:301072
HP:0011443	Abnormality of coordination	8803	SUCLA2	ORPHA:1933
HP:0011443	Abnormality of coordination	7080	NKX2-1	OMIM:610978
HP:0011443	Abnormality of coordination	7080	NKX2-1	ORPHA:209905
HP:0011443	Abnormality of coordination	2260	FGFR1	ORPHA:478
HP:0011443	Abnormality of coordination	10371	SEMA3A	ORPHA:478
HP:0011443	Abnormality of coordination	81848	SPRY4	ORPHA:478
HP:0011443	Abnormality of coordination	23767	FLRT3	ORPHA:478
HP:0011443	Abnormality of coordination	128674	PROKR2	ORPHA:478
HP:0011443	Abnormality of coordination	79625	NDNF	ORPHA:478
HP:0011443	Abnormality of coordination	2253	FGF8	ORPHA:478
HP:0011443	Abnormality of coordination	389549	FEZF1	ORPHA:478
HP:0011443	Abnormality of coordination	1630	DCC	ORPHA:478
HP:0011443	Abnormality of coordination	54756	IL17RD	ORPHA:478
HP:0011443	Abnormality of coordination	285025	CCDC141	ORPHA:478
HP:0011443	Abnormality of coordination	60675	PROK2	ORPHA:478
HP:0011443	Abnormality of coordination	55636	CHD7	ORPHA:478
HP:0011443	Abnormality of coordination	1848	DUSP6	ORPHA:478
HP:0011443	Abnormality of coordination	6870	TACR3	ORPHA:478
HP:0011443	Abnormality of coordination	55717	WDR11	ORPHA:478
HP:0011443	Abnormality of coordination	9394	HS6ST1	ORPHA:478
HP:0011443	Abnormality of coordination	8820	HESX1	ORPHA:478
HP:0011443	Abnormality of coordination	8822	FGF17	ORPHA:478
HP:0011443	Abnormality of coordination	23013	SPEN	OMIM:619312
HP:0011443	Abnormality of coordination	30000	TNPO2	OMIM:619556
HP:0011443	Abnormality of coordination	51728	POLR3K	OMIM:619310
HP:0011443	Abnormality of coordination	10102	TSFM	OMIM:610505
HP:0011443	Abnormality of coordination	2581	GALC	ORPHA:206443
HP:0011443	Abnormality of coordination	2581	GALC	ORPHA:206448
HP:0011443	Abnormality of coordination	1436	CSF1R	OMIM:618476
HP:0011443	Abnormality of coordination	9342	SNAP29	ORPHA:66631
HP:0011443	Abnormality of coordination	23030	KDM4B	OMIM:619320
HP:0011443	Abnormality of coordination	137682	NDUFAF6	OMIM:618239
HP:0011443	Abnormality of coordination	9179	AP4M1	OMIM:612936
HP:0011443	Abnormality of coordination	79944	L2HGDH	OMIM:236792
HP:0011443	Abnormality of coordination	6904	TBCD	ORPHA:496641
HP:0011443	Abnormality of coordination	6904	TBCD	OMIM:617193
HP:0011443	Abnormality of coordination	10059	DNM1L	ORPHA:98673
HP:0011443	Abnormality of coordination	25929	GEMIN5	OMIM:619333
HP:0011443	Abnormality of coordination	2560	GABRB1	OMIM:617153
HP:0011443	Abnormality of coordination	79641	ROGDI	OMIM:226750
HP:0011443	Abnormality of coordination	29920	PYCR2	ORPHA:481152
HP:0011443	Abnormality of coordination	6898	TAT	ORPHA:28378
HP:0011443	Abnormality of coordination	10483	SEC23B	ORPHA:201
HP:0011443	Abnormality of coordination	6391	SDHC	ORPHA:201
HP:0011443	Abnormality of coordination	207	AKT1	ORPHA:201
HP:0011443	Abnormality of coordination	207	AKT1	ORPHA:2495
HP:0011443	Abnormality of coordination	205717	USF3	ORPHA:201
HP:0011443	Abnormality of coordination	5290	PIK3CA	ORPHA:201
HP:0011443	Abnormality of coordination	5290	PIK3CA	ORPHA:2495
HP:0011443	Abnormality of coordination	100144748	KLLN	ORPHA:201
HP:0011443	Abnormality of coordination	8635	RNASET2	OMIM:612951
HP:0011443	Abnormality of coordination	6697	SPR	OMIM:612716
HP:0011443	Abnormality of coordination	51095	TRNT1	OMIM:616084
HP:0011443	Abnormality of coordination	35	ACADS	OMIM:201470
HP:0011443	Abnormality of coordination	29926	GMPPA	ORPHA:869
HP:0011443	Abnormality of coordination	29926	GMPPA	OMIM:615510
HP:0011443	Abnormality of coordination	128240	NAXE	OMIM:617186
HP:0011443	Abnormality of coordination	440138	ALG11	ORPHA:280071
HP:0011443	Abnormality of coordination	23287	AGTPBP1	OMIM:618276
HP:0011443	Abnormality of coordination	23287	AGTPBP1	ORPHA:2254
HP:0011443	Abnormality of coordination	6571	SLC18A2	OMIM:618049
HP:0011443	Abnormality of coordination	6571	SLC18A2	ORPHA:352649
HP:0011443	Abnormality of coordination	1719	DHFR	OMIM:613839
HP:0011443	Abnormality of coordination	55074	OXR1	OMIM:213000
HP:0011443	Abnormality of coordination	79644	SRD5A3	ORPHA:324737
HP:0011443	Abnormality of coordination	8996	NOL3	OMIM:614937
HP:0011443	Abnormality of coordination	27183	VPS4A	OMIM:619273
HP:0011443	Abnormality of coordination	91574	MTRFR	ORPHA:254930
HP:0011443	Abnormality of coordination	91574	MTRFR	OMIM:613559
HP:0011443	Abnormality of coordination	4570	MT-TN	OMIM:220110
HP:0011443	Abnormality of coordination	400916	CHCHD10	OMIM:615911
HP:0011443	Abnormality of coordination	2299	FOXI1	ORPHA:705
HP:0011443	Abnormality of coordination	5172	SLC26A4	ORPHA:705
HP:0011443	Abnormality of coordination	57176	VARS2	OMIM:615917
HP:0011443	Abnormality of coordination	51218	GLRX5	ORPHA:401866
HP:0011443	Abnormality of coordination	1352	COX10	OMIM:619046
HP:0011443	Abnormality of coordination	3736	KCNA1	ORPHA:972
HP:0011443	Abnormality of coordination	116228	COX20	OMIM:619054
HP:0011443	Abnormality of coordination	1757	SARDH	ORPHA:3129
HP:0011443	Abnormality of coordination	686	BTD	OMIM:253260
HP:0011443	Abnormality of coordination	686	BTD	ORPHA:79241
HP:0011443	Abnormality of coordination	10015	PDCD6IP	OMIM:620047
HP:0011443	Abnormality of coordination	3117	HLA-DQA1	OMIM:212750
HP:0011443	Abnormality of coordination	7276	TTR	OMIM:105210
HP:0011443	Abnormality of coordination	4697	NDUFA4	OMIM:619065
HP:0011443	Abnormality of coordination	23461	ABCA5	ORPHA:2026
HP:0011443	Abnormality of coordination	1600	DAB1	OMIM:615945
HP:0011443	Abnormality of coordination	55157	DARS2	OMIM:611105
HP:0011443	Abnormality of coordination	112476	PRRT2	ORPHA:98811
HP:0011443	Abnormality of coordination	5230	PGK1	ORPHA:713
HP:0011443	Abnormality of coordination	5230	PGK1	OMIM:300653
HP:0011443	Abnormality of coordination	6335	SCN9A	ORPHA:36387
HP:0011443	Abnormality of coordination	112755	STX1B	ORPHA:36387
HP:0011443	Abnormality of coordination	2563	GABRD	ORPHA:36387
HP:0011443	Abnormality of coordination	6326	SCN2A	ORPHA:36387
HP:0011443	Abnormality of coordination	6324	SCN1B	ORPHA:36387
HP:0011443	Abnormality of coordination	84059	ADGRV1	ORPHA:36387
HP:0011443	Abnormality of coordination	84059	ADGRV1	ORPHA:231178
HP:0011443	Abnormality of coordination	11340	EXOSC8	ORPHA:2254
HP:0011443	Abnormality of coordination	5393	EXOSC9	ORPHA:2254
HP:0011443	Abnormality of coordination	51010	EXOSC3	ORPHA:2254
HP:0011443	Abnormality of coordination	7443	VRK1	ORPHA:2254
HP:0011443	Abnormality of coordination	7443	VRK1	OMIM:607596
HP:0011443	Abnormality of coordination	2073	ERCC5	OMIM:278780
HP:0011443	Abnormality of coordination	2073	ERCC5	ORPHA:910
HP:0011443	Abnormality of coordination	2073	ERCC5	ORPHA:220295
HP:0011443	Abnormality of coordination	8314	BAP1	ORPHA:2495
HP:0011443	Abnormality of coordination	4771	NF2	ORPHA:2495
HP:0011443	Abnormality of coordination	4771	NF2	OMIM:101000
HP:0011443	Abnormality of coordination	6598	SMARCB1	ORPHA:2495
HP:0011443	Abnormality of coordination	6598	SMARCB1	ORPHA:99966
HP:0011443	Abnormality of coordination	5155	PDGFB	ORPHA:2495
HP:0011443	Abnormality of coordination	84231	TRAF7	ORPHA:2495
HP:0011443	Abnormality of coordination	6608	SMO	ORPHA:2495
HP:0011443	Abnormality of coordination	6605	SMARCE1	ORPHA:2495
HP:0011443	Abnormality of coordination	2521	FUS	ORPHA:300605
HP:0011443	Abnormality of coordination	10280	SIGMAR1	ORPHA:300605
HP:0011443	Abnormality of coordination	10558	SPTLC1	ORPHA:300605
HP:0011443	Abnormality of coordination	4089	SMAD4	OMIM:139210
HP:0011443	Abnormality of coordination	255928	SYT14	ORPHA:284271
HP:0011443	Abnormality of coordination	255928	SYT14	OMIM:614229
HP:0011443	Abnormality of coordination	55691	FRMD4A	OMIM:616819
HP:0011443	Abnormality of coordination	3187	HNRNPH1	OMIM:620083
HP:0011443	Abnormality of coordination	2937	GSS	OMIM:266130
HP:0011443	Abnormality of coordination	9147	NEMF	OMIM:619099
HP:0011443	Abnormality of coordination	26047	CNTNAP2	OMIM:610042
HP:0011443	Abnormality of coordination	26047	CNTNAP2	ORPHA:163681
HP:0011443	Abnormality of coordination	162417	NAGS	ORPHA:927
HP:0011443	Abnormality of coordination	51750	RTEL1	ORPHA:3322
HP:0011443	Abnormality of coordination	65057	ACD	ORPHA:3322
HP:0011443	Abnormality of coordination	84978	FRMD5	OMIM:620094
HP:0011443	Abnormality of coordination	80199	FUZ	ORPHA:1136
HP:0011443	Abnormality of coordination	80207	OPA3	OMIM:258501
HP:0011443	Abnormality of coordination	80207	OPA3	ORPHA:67036
HP:0011443	Abnormality of coordination	80207	OPA3	ORPHA:67047
HP:0011443	Abnormality of coordination	7507	XPA	ORPHA:910
HP:0011443	Abnormality of coordination	7507	XPA	OMIM:278700
HP:0011443	Abnormality of coordination	7508	XPC	ORPHA:910
HP:0011443	Abnormality of coordination	1643	DDB2	ORPHA:910
HP:0011443	Abnormality of coordination	6683	SPAST	ORPHA:100985
HP:0011443	Abnormality of coordination	125988	MICOS13	ORPHA:67047
HP:0011443	Abnormality of coordination	23095	KIF1B	OMIM:256700
HP:0011443	Abnormality of coordination	56997	COQ8A	OMIM:612016
HP:0011443	Abnormality of coordination	6301	SARS1	OMIM:617709
HP:0011443	Abnormality of coordination	2592	GALT	ORPHA:79239
HP:0011443	Abnormality of coordination	6609	SMPD1	ORPHA:77293
HP:0011443	Abnormality of coordination	203068	TUBB	OMIM:615771
HP:0011443	Abnormality of coordination	11253	MAN1B1	OMIM:614202
HP:0011443	Abnormality of coordination	2058	EPRS1	OMIM:617951
HP:0011443	Abnormality of coordination	3141	HLCS	ORPHA:79242
HP:0011443	Abnormality of coordination	9361	LONP1	ORPHA:79243
HP:0011443	Abnormality of coordination	5160	PDHA1	ORPHA:79243
HP:0011443	Abnormality of coordination	1641	DCX	OMIM:300067
HP:0011443	Abnormality of coordination	7399	USH2A	ORPHA:231178
HP:0011443	Abnormality of coordination	79955	PDZD7	ORPHA:231178
HP:0011443	Abnormality of coordination	4647	MYO7A	ORPHA:231178
HP:0011443	Abnormality of coordination	4647	MYO7A	ORPHA:231169
HP:0011443	Abnormality of coordination	25861	WHRN	ORPHA:231178
HP:0011443	Abnormality of coordination	51501	HIKESHI	OMIM:616881
HP:0011443	Abnormality of coordination	3747	KCNC2	OMIM:619913
HP:0011443	Abnormality of coordination	51002	TPRKB	OMIM:617731
HP:0011443	Abnormality of coordination	338	APOB	OMIM:615558
HP:0011443	Abnormality of coordination	22934	RPIA	OMIM:608611
HP:0011443	Abnormality of coordination	7040	TGFB1	ORPHA:1328
HP:0011443	Abnormality of coordination	5293	PIK3CD	ORPHA:221139
HP:0011443	Abnormality of coordination	90417	KNSTRN	ORPHA:221139
HP:0011443	Abnormality of coordination	4714	NDUFB8	ORPHA:70474
HP:0011443	Abnormality of coordination	9997	SCO2	ORPHA:70474
HP:0011443	Abnormality of coordination	23209	MLC1	OMIM:604004
HP:0011443	Abnormality of coordination	5162	PDHB	ORPHA:255138
HP:0011443	Abnormality of coordination	7401	CLRN1	ORPHA:231183
HP:0011443	Abnormality of coordination	22901	ARSG	ORPHA:231183
HP:0011443	Abnormality of coordination	3035	HARS1	ORPHA:231183
HP:0011443	Abnormality of coordination	84131	CEP78	ORPHA:231183
HP:0011443	Abnormality of coordination	6591	SNAI2	ORPHA:2884
HP:0011443	Abnormality of coordination	3815	KIT	ORPHA:2884
HP:0011443	Abnormality of coordination	5538	PPT1	OMIM:256730
HP:0011443	Abnormality of coordination	25974	MMACHC	ORPHA:79282
HP:0011443	Abnormality of coordination	64072	CDH23	ORPHA:231169
HP:0011443	Abnormality of coordination	10083	USH1C	ORPHA:231169
HP:0011443	Abnormality of coordination	124590	USH1G	ORPHA:231169
HP:0011443	Abnormality of coordination	83715	ESPN	ORPHA:231169
HP:0011443	Abnormality of coordination	10518	CIB2	ORPHA:231169
HP:0011443	Abnormality of coordination	65217	PCDH15	ORPHA:231169
HP:0011443	Abnormality of coordination	55753	OGDHL	OMIM:619701
HP:0011443	Abnormality of coordination	284217	LAMA1	ORPHA:370022
HP:0011443	Abnormality of coordination	10749	KIF1C	ORPHA:397946
HP:0011443	Abnormality of coordination	10749	KIF1C	OMIM:611302
HP:0011443	Abnormality of coordination	10128	LRPPRC	OMIM:220111
HP:0011443	Abnormality of coordination	773	CACNA1A	OMIM:183086
HP:0011443	Abnormality of coordination	23646	PLD3	OMIM:617770
HP:0011443	Abnormality of coordination	55703	POLR3B	OMIM:614381
HP:0011443	Abnormality of coordination	55703	POLR3B	OMIM:607694
HP:0011443	Abnormality of coordination	4099	MAG	OMIM:616680
HP:0011443	Abnormality of coordination	4099	MAG	ORPHA:459056
HP:0011443	Abnormality of coordination	91452	ACBD5	OMIM:618863
HP:0011443	Abnormality of coordination	9853	RUSC2	OMIM:617773
HP:0011443	Abnormality of coordination	2895	GRID2	OMIM:616204
HP:0011443	Abnormality of coordination	9254	CACNA2D2	OMIM:618501
HP:0011443	Abnormality of coordination	5457	POU4F1	ORPHA:314647
HP:0011443	Abnormality of coordination	5457	POU4F1	OMIM:619352
HP:0011443	Abnormality of coordination	23261	CAMTA1	ORPHA:314647
HP:0011443	Abnormality of coordination	23261	CAMTA1	OMIM:614756
HP:0011443	Abnormality of coordination	4758	NEU1	OMIM:256550
HP:0011443	Abnormality of coordination	4758	NEU1	ORPHA:93399
HP:0011443	Abnormality of coordination	4758	NEU1	ORPHA:93400
HP:0011443	Abnormality of coordination	10159	ATP6AP2	ORPHA:93952
HP:0011443	Abnormality of coordination	5428	POLG	ORPHA:94125
HP:0011443	Abnormality of coordination	5428	POLG	OMIM:607459
HP:0011443	Abnormality of coordination	5521	PPP2R2B	OMIM:604326
HP:0011443	Abnormality of coordination	6311	ATXN2	OMIM:183090
HP:0011443	Abnormality of coordination	5917	RARS1	ORPHA:438114
HP:0011443	Abnormality of coordination	5917	RARS1	OMIM:616140
HP:0011443	Abnormality of coordination	2670	GFAP	OMIM:203450
HP:0011443	Abnormality of coordination	10730	YME1L1	OMIM:617302
HP:0011443	Abnormality of coordination	8309	ACOX2	OMIM:617308
HP:0011443	Abnormality of coordination	2911	GRM1	OMIM:614831
HP:0011443	Abnormality of coordination	2911	GRM1	OMIM:617691
HP:0011443	Abnormality of coordination	2911	GRM1	ORPHA:324262
HP:0011443	Abnormality of coordination	547	KIF1A	OMIM:610357
HP:0011443	Abnormality of coordination	55780	ERMARD	ORPHA:75857
HP:0011443	Abnormality of coordination	219285	SAMD9L	OMIM:159550
HP:0011443	Abnormality of coordination	219285	SAMD9L	OMIM:619806
HP:0011443	Abnormality of coordination	9289	ADGRG1	OMIM:606854
HP:0011443	Abnormality of coordination	9289	ADGRG1	ORPHA:98889
HP:0011443	Abnormality of coordination	7345	UCHL1	OMIM:615491
HP:0011443	Abnormality of coordination	55154	MSTO1	OMIM:617675
HP:0011443	Abnormality of coordination	55154	MSTO1	ORPHA:502423
HP:0011443	Abnormality of coordination	8913	CACNA1G	OMIM:618087
HP:0011443	Abnormality of coordination	215	ABCD1	ORPHA:139396
HP:0011443	Abnormality of coordination	64207	IRF2BPL	OMIM:618088
HP:0011443	Abnormality of coordination	64834	ELOVL1	OMIM:618527
HP:0011443	Abnormality of coordination	7436	VLDLR	OMIM:224050
HP:0011443	Abnormality of coordination	5173	PDYN	OMIM:610245
HP:0011443	Abnormality of coordination	5173	PDYN	ORPHA:101108
HP:0011443	Abnormality of coordination	8560	DEGS1	OMIM:618404
HP:0011443	Abnormality of coordination	10939	AFG3L2	ORPHA:313772
HP:0011443	Abnormality of coordination	10939	AFG3L2	OMIM:614487
HP:0011443	Abnormality of coordination	2332	FMR1	ORPHA:93256
HP:0011443	Abnormality of coordination	2332	FMR1	OMIM:300623
HP:0011443	Abnormality of coordination	823	CAPN1	OMIM:616907
HP:0011443	Abnormality of coordination	10273	STUB1	OMIM:618093
HP:0011443	Abnormality of coordination	22	ABCB7	OMIM:301310
HP:0011443	Abnormality of coordination	343641	TGM6	ORPHA:276193
HP:0011443	Abnormality of coordination	343641	TGM6	OMIM:613908
HP:0011443	Abnormality of coordination	5621	PRNP	OMIM:603218
HP:0011443	Abnormality of coordination	5621	PRNP	ORPHA:157941
HP:0011443	Abnormality of coordination	7274	TTPA	ORPHA:96
HP:0011443	Abnormality of coordination	7274	TTPA	OMIM:277460
HP:0011443	Abnormality of coordination	857	CAV1	OMIM:606721
HP:0011443	Abnormality of coordination	6687	SPG7	OMIM:607259
HP:0011443	Abnormality of coordination	80856	LNPK	OMIM:618090
HP:0011443	Abnormality of coordination	26278	SACS	ORPHA:98
HP:0011443	Abnormality of coordination	26278	SACS	OMIM:270550
HP:0011443	Abnormality of coordination	51651	PTRH2	ORPHA:456312
HP:0011443	Abnormality of coordination	51651	PTRH2	OMIM:616263
HP:0011443	Abnormality of coordination	23203	PMPCA	ORPHA:1170
HP:0011443	Abnormality of coordination	23203	PMPCA	OMIM:213200
HP:0011443	Abnormality of coordination	6712	SPTBN2	OMIM:615386
HP:0011443	Abnormality of coordination	6712	SPTBN2	ORPHA:352403
HP:0011443	Abnormality of coordination	6712	SPTBN2	OMIM:600224
HP:0011443	Abnormality of coordination	7156	TOP3A	OMIM:618098
HP:0011443	Abnormality of coordination	246243	RNASEH1	OMIM:616479
HP:0011443	Abnormality of coordination	26090	ABHD12	OMIM:612674
HP:0011443	Abnormality of coordination	10352	WARS2	ORPHA:572798
HP:0011443	Abnormality of coordination	10352	WARS2	OMIM:617710
HP:0011443	Abnormality of coordination	2705	GJB1	ORPHA:1175
HP:0011443	Abnormality of coordination	2705	GJB1	OMIM:302800
HP:0011443	Abnormality of coordination	144165	PRICKLE1	OMIM:612437
HP:0011443	Abnormality of coordination	9907	AP5Z1	OMIM:613647
HP:0011443	Abnormality of coordination	79152	FA2H	OMIM:612319
HP:0011443	Abnormality of coordination	79152	FA2H	ORPHA:171629
HP:0011443	Abnormality of coordination	2395	FXN	ORPHA:95
HP:0011443	Abnormality of coordination	6908	TBP	OMIM:607136
HP:0011443	Abnormality of coordination	10528	NOP56	ORPHA:276198
HP:0011443	Abnormality of coordination	5373	PMM2	OMIM:212065
HP:0011443	Abnormality of coordination	477	ATP1A2	OMIM:602481
HP:0011443	Abnormality of coordination	3475	IFRD1	ORPHA:98771
HP:0011443	Abnormality of coordination	84138	SLC7A6OS	OMIM:619191
HP:0011443	Abnormality of coordination	253738	EBF3	OMIM:617330
HP:0011443	Abnormality of coordination	55768	NGLY1	OMIM:615273
HP:0011443	Abnormality of coordination	9895	TECPR2	OMIM:615031
HP:0011443	Abnormality of coordination	9895	TECPR2	ORPHA:320385
HP:0011443	Abnormality of coordination	55280	CWF19L1	OMIM:616127
HP:0011443	Abnormality of coordination	55280	CWF19L1	ORPHA:453521
HP:0011443	Abnormality of coordination	54902	TTC19	OMIM:615157
HP:0011443	Abnormality of coordination	5828	PEX2	OMIM:614867
HP:0011443	Abnormality of coordination	6804	STX1A	ORPHA:904
HP:0011443	Abnormality of coordination	7461	CLIP2	ORPHA:904
HP:0011443	Abnormality of coordination	84277	DNAJC30	ORPHA:904
HP:0011443	Abnormality of coordination	8468	FKBP6	ORPHA:904
HP:0011443	Abnormality of coordination	5982	RFC2	ORPHA:904
HP:0011443	Abnormality of coordination	2969	GTF2I	ORPHA:904
HP:0011443	Abnormality of coordination	3984	LIMK1	ORPHA:904
HP:0011443	Abnormality of coordination	9569	GTF2IRD1	ORPHA:904
HP:0011443	Abnormality of coordination	155382	VPS37D	ORPHA:904
HP:0011443	Abnormality of coordination	155368	METTL27	ORPHA:904
HP:0011443	Abnormality of coordination	114049	BUD23	ORPHA:904
HP:0011443	Abnormality of coordination	7458	EIF4H	ORPHA:904
HP:0011443	Abnormality of coordination	84163	GTF2IRD2	ORPHA:904
HP:0011443	Abnormality of coordination	9275	BCL7B	ORPHA:904
HP:0011443	Abnormality of coordination	26608	TBL2	ORPHA:904
HP:0011443	Abnormality of coordination	653361	NCF1	ORPHA:904
HP:0011443	Abnormality of coordination	135886	TMEM270	ORPHA:904
HP:0011443	Abnormality of coordination	51085	MLXIPL	ORPHA:904
HP:0011443	Abnormality of coordination	9031	BAZ1B	ORPHA:904
HP:0011443	Abnormality of coordination	2006	ELN	ORPHA:904
HP:0011443	Abnormality of coordination	5297	PI4KA	ORPHA:98889
HP:0011443	Abnormality of coordination	5297	PI4KA	OMIM:619708
HP:0011443	Abnormality of coordination	27286	SRPX2	ORPHA:98889
HP:0011443	Abnormality of coordination	11128	POLR3A	ORPHA:447896
HP:0011443	Abnormality of coordination	11128	POLR3A	OMIM:607694
HP:0011443	Abnormality of coordination	23137	SMC5	OMIM:620185
HP:0011443	Abnormality of coordination	1822	ATN1	ORPHA:101
HP:0011443	Abnormality of coordination	25814	ATXN10	ORPHA:98761
HP:0011443	Abnormality of coordination	25814	ATXN10	OMIM:603516
HP:0011443	Abnormality of coordination	8733	GPAA1	ORPHA:529665
HP:0011443	Abnormality of coordination	8733	GPAA1	OMIM:617810
HP:0011443	Abnormality of coordination	9474	ATG5	OMIM:617584
HP:0011443	Abnormality of coordination	59336	PRDM13	OMIM:619761
HP:0011443	Abnormality of coordination	9409	PEX16	OMIM:614877
HP:0011443	Abnormality of coordination	3708	ITPR1	OMIM:117360
HP:0011443	Abnormality of coordination	3708	ITPR1	ORPHA:208513
HP:0011443	Abnormality of coordination	10531	PITRM1	OMIM:619405
HP:0011443	Abnormality of coordination	57462	MYORG	OMIM:618317
HP:0011443	Abnormality of coordination	11261	CHP1	OMIM:618438
HP:0011443	Abnormality of coordination	6310	ATXN1	ORPHA:98755
HP:0011443	Abnormality of coordination	6310	ATXN1	OMIM:164400
HP:0011443	Abnormality of coordination	55129	ANO10	ORPHA:284289
HP:0011443	Abnormality of coordination	55129	ANO10	OMIM:613728
HP:0011443	Abnormality of coordination	5981	RFC1	ORPHA:504476
HP:0011443	Abnormality of coordination	9725	TMEM63A	OMIM:618688
HP:0011443	Abnormality of coordination	1384	CRAT	OMIM:617917
HP:0011443	Abnormality of coordination	200403	VWA3B	OMIM:616948
HP:0011443	Abnormality of coordination	85021	REPS1	OMIM:617916
HP:0011443	Abnormality of coordination	6314	ATXN7	ORPHA:94147
HP:0011443	Abnormality of coordination	6314	ATXN7	OMIM:164500
HP:0011443	Abnormality of coordination	5654	HTRA1	OMIM:600142
HP:0011443	Abnormality of coordination	56652	TWNK	OMIM:607459
HP:0011443	Abnormality of coordination	3980	LIG3	OMIM:619780
HP:0011443	Abnormality of coordination	2583	B4GALNT1	OMIM:609195
HP:0011443	Abnormality of coordination	57165	GJC2	OMIM:613206
HP:0011443	Abnormality of coordination	4976	OPA1	OMIM:210000
HP:0011443	Abnormality of coordination	4001	LMNB1	ORPHA:99027
HP:0011443	Abnormality of coordination	1203	CLN5	ORPHA:228360
HP:0011443	Abnormality of coordination	1203	CLN5	OMIM:256731
HP:0011443	Abnormality of coordination	23111	SPART	OMIM:275900
HP:0011443	Abnormality of coordination	92935	MARS2	OMIM:611390
HP:0011443	Abnormality of coordination	92935	MARS2	ORPHA:314603
HP:0011443	Abnormality of coordination	23345	SYNE1	ORPHA:88644
HP:0011443	Abnormality of coordination	23345	SYNE1	OMIM:610743
HP:0011443	Abnormality of coordination	124997	WDR81	OMIM:610185
HP:0011443	Abnormality of coordination	9698	PUM1	OMIM:617931
HP:0011443	Abnormality of coordination	6334	SCN8A	OMIM:614306
HP:0011443	Abnormality of coordination	4967	OGDH	OMIM:203740
HP:0011443	Abnormality of coordination	6548	SLC9A1	OMIM:616291
HP:0011443	Abnormality of coordination	91942	NDUFAF2	OMIM:618233
HP:0011443	Abnormality of coordination	440193	CCDC88C	OMIM:616053
HP:0011443	Abnormality of coordination	440193	CCDC88C	ORPHA:423275
HP:0011443	Abnormality of coordination	478	ATP1A3	OMIM:601338
HP:0011443	Abnormality of coordination	23114	NFASC	OMIM:618356
HP:0011443	Abnormality of coordination	8878	SQSTM1	OMIM:617145
HP:0011443	Abnormality of coordination	10157	AASS	ORPHA:2203
HP:0011443	Abnormality of coordination	10166	SLC25A15	OMIM:238970
HP:0011443	Abnormality of coordination	56915	EXOSC5	OMIM:619576
HP:0011443	Abnormality of coordination	9512	PMPCB	OMIM:617954
HP:0011443	Abnormality of coordination	91137	SLC25A46	OMIM:616505
HP:0011443	Abnormality of coordination	4361	MRE11	OMIM:604391
HP:0011443	Abnormality of coordination	4361	MRE11	ORPHA:251347
HP:0011443	Abnormality of coordination	5582	PRKCG	OMIM:605361
HP:0011443	Abnormality of coordination	4547	MTTP	ORPHA:14
HP:0011443	Abnormality of coordination	51300	TIMMDC1	OMIM:618251
HP:0011443	Abnormality of coordination	54664	TMEM106B	OMIM:617964
HP:0011443	Abnormality of coordination	8884	SLC5A6	OMIM:619903
HP:0011443	Abnormality of coordination	1200	TPP1	OMIM:609270
HP:0011443	Abnormality of coordination	1200	TPP1	ORPHA:284324
HP:0011443	Abnormality of coordination	65260	COA7	OMIM:618387
HP:0011443	Abnormality of coordination	9150	CTDP1	ORPHA:48431
HP:0011443	Abnormality of coordination	8270	LAGE3	OMIM:301006
HP:0011443	Abnormality of coordination	64849	SLC13A3	OMIM:618384
HP:0011443	Abnormality of coordination	131669	UROC1	OMIM:276880
HP:0011443	Abnormality of coordination	6472	SHMT2	OMIM:619121
HP:0011443	Abnormality of coordination	79867	TCTN2	OMIM:616654
HP:0011443	Abnormality of coordination	54676	GTPBP2	OMIM:617988
HP:0011443	Abnormality of coordination	7518	XRCC4	OMIM:616541
HP:0011443	Abnormality of coordination	119559	SFXN4	OMIM:615578
HP:0011443	Abnormality of coordination	7515	XRCC1	OMIM:617633
HP:0011443	Abnormality of coordination	23533	PIK3R5	OMIM:615217
HP:0011443	Abnormality of coordination	5354	PLP1	OMIM:312920
HP:0011443	Abnormality of coordination	54936	ADPRS	OMIM:618170
HP:0011443	Abnormality of coordination	84274	COQ5	OMIM:619028
HP:0011443	Abnormality of coordination	221927	BRAT1	OMIM:618056
HP:0011443	Abnormality of coordination	8398	PLA2G6	OMIM:610217
HP:0011443	Abnormality of coordination	26275	HIBCH	OMIM:250620
HP:0011443	Abnormality of coordination	50640	PNPLA8	OMIM:251950
HP:0011443	Abnormality of coordination	84894	LINGO1	OMIM:618103
HP:0011443	Abnormality of coordination	1512	CTSH	ORPHA:2073
HP:0011443	Abnormality of coordination	5032	P2RY11	ORPHA:2073
HP:0011443	Abnormality of coordination	4340	MOG	ORPHA:2073
HP:0011443	Abnormality of coordination	3060	HCRT	ORPHA:2073
HP:0011443	Abnormality of coordination	22891	ZNF365	ORPHA:2073
HP:0011443	Abnormality of coordination	7292	TNFSF4	ORPHA:2073
HP:0011443	Abnormality of coordination	23545	ATP6V0A2	ORPHA:2834
HP:0011443	Abnormality of coordination	8622	PDE8B	OMIM:609161
HP:0011443	Abnormality of coordination	2146	EZH2	OMIM:277590
HP:0011443	Abnormality of coordination	29072	SETD2	OMIM:616831
HP:0011443	Abnormality of coordination	23230	VPS13A	ORPHA:2388
HP:0011443	Abnormality of coordination	22868	FASTKD2	OMIM:618855
HP:0011443	Abnormality of coordination	64374	SIL1	OMIM:248800
HP:0011443	Abnormality of coordination	8450	CUL4B	OMIM:300354
HP:0011443	Abnormality of coordination	2643	GCH1	OMIM:128230
HP:0011443	Abnormality of coordination	2643	GCH1	ORPHA:98808
HP:0011443	Abnormality of coordination	158	ADSL	OMIM:103050
HP:0011443	Abnormality of coordination	146227	BEAN1	OMIM:117210
HP:0011443	Abnormality of coordination	146227	BEAN1	ORPHA:217012
HP:0011443	Abnormality of coordination	22880	MORC2	OMIM:616688
HP:0011443	Abnormality of coordination	51126	NAA20	OMIM:619717
HP:0011443	Abnormality of coordination	51343	FZR1	OMIM:620145
HP:0011443	Abnormality of coordination	85300	ATCAY	ORPHA:94122
HP:0011443	Abnormality of coordination	85300	ATCAY	OMIM:601238
HP:0011443	Abnormality of coordination	4359	MPZ	OMIM:180800
HP:0011443	Abnormality of coordination	4359	MPZ	ORPHA:3115
HP:0011443	Abnormality of coordination	5376	PMP22	OMIM:180800
HP:0011443	Abnormality of coordination	5376	PMP22	ORPHA:3115
HP:0011443	Abnormality of coordination	5376	PMP22	ORPHA:98916
HP:0011443	Abnormality of coordination	5660	PSAP	OMIM:249900
HP:0011443	Abnormality of coordination	5660	PSAP	ORPHA:309256
HP:0011443	Abnormality of coordination	4535	MT-ND1	ORPHA:255210
HP:0011443	Abnormality of coordination	4536	MT-ND2	ORPHA:255210
HP:0011443	Abnormality of coordination	4537	MT-ND3	ORPHA:255210
HP:0011443	Abnormality of coordination	4538	MT-ND4	ORPHA:255210
HP:0011443	Abnormality of coordination	4567	MT-TL1	ORPHA:255210
HP:0011443	Abnormality of coordination	4578	MT-TW	ORPHA:255210
HP:0011443	Abnormality of coordination	4577	MT-TV	ORPHA:255210
HP:0011443	Abnormality of coordination	4508	MT-ATP6	ORPHA:255210
HP:0011443	Abnormality of coordination	4508	MT-ATP6	ORPHA:225154
HP:0011443	Abnormality of coordination	4540	MT-ND5	ORPHA:255210
HP:0011443	Abnormality of coordination	4541	MT-ND6	ORPHA:255210
HP:0011443	Abnormality of coordination	4566	MT-TK	ORPHA:255210
HP:0011443	Abnormality of coordination	4983	OPHN1	OMIM:300486
HP:0011443	Abnormality of coordination	80232	WDR26	ORPHA:513456
HP:0011443	Abnormality of coordination	3074	HEXB	ORPHA:309169
HP:0011443	Abnormality of coordination	10908	PNPLA6	ORPHA:139480
HP:0011443	Abnormality of coordination	10908	PNPLA6	OMIM:215470
HP:0011443	Abnormality of coordination	8722	CTSF	OMIM:615362
HP:0011443	Abnormality of coordination	283489	CHAMP1	OMIM:616579
HP:0011443	Abnormality of coordination	5610	EIF2AK2	OMIM:618877
HP:0011443	Abnormality of coordination	28960	DCPS	OMIM:616459
HP:0011443	Abnormality of coordination	7054	TH	OMIM:605407
HP:0011443	Abnormality of coordination	7054	TH	ORPHA:101150
HP:0011443	Abnormality of coordination	146057	TTBK2	OMIM:604432
HP:0011443	Abnormality of coordination	3064	HTT	ORPHA:248111
HP:0011443	Abnormality of coordination	3064	HTT	OMIM:143100
HP:0011443	Abnormality of coordination	57492	ARID1B	OMIM:135900
HP:0011443	Abnormality of coordination	50484	RRM2B	OMIM:613077
HP:0011443	Abnormality of coordination	50484	RRM2B	ORPHA:254892
HP:0011443	Abnormality of coordination	50484	RRM2B	OMIM:612075
HP:0011443	Abnormality of coordination	5119	CHMP1A	OMIM:614961
HP:0011443	Abnormality of coordination	5190	PEX6	ORPHA:95433
HP:0011443	Abnormality of coordination	55187	VPS13D	ORPHA:95434
HP:0011443	Abnormality of coordination	55187	VPS13D	OMIM:607317
HP:0011443	Abnormality of coordination	27072	VPS41	ORPHA:95434
HP:0011443	Abnormality of coordination	5832	ALDH18A1	OMIM:601162
HP:0011443	Abnormality of coordination	10935	PRDX3	OMIM:619862
HP:0011443	Abnormality of coordination	5528	PPP2R5D	OMIM:616355
HP:0011443	Abnormality of coordination	54872	PIGG	ORPHA:488635
HP:0011443	Abnormality of coordination	54840	APTX	OMIM:208920
HP:0011443	Abnormality of coordination	2903	GRIN2A	ORPHA:98818
HP:0011443	Abnormality of coordination	950	SCARB2	OMIM:254900
HP:0011443	Abnormality of coordination	27235	COQ2	ORPHA:98933
HP:0011443	Abnormality of coordination	27235	COQ2	ORPHA:227510
HP:0011443	Abnormality of coordination	4747	NEFL	ORPHA:101085
HP:0011443	Abnormality of coordination	9711	RUBCN	OMIM:615705
HP:0011443	Abnormality of coordination	9711	RUBCN	ORPHA:404499
HP:0011443	Abnormality of coordination	2259	FGF14	OMIM:620174
HP:0011443	Abnormality of coordination	2259	FGF14	ORPHA:98764
HP:0011443	Abnormality of coordination	2259	FGF14	OMIM:193003
HP:0011443	Abnormality of coordination	339453	TMEM240	ORPHA:98773
HP:0011443	Abnormality of coordination	339453	TMEM240	OMIM:607454
HP:0011443	Abnormality of coordination	1938	EEF2	OMIM:609306
HP:0011443	Abnormality of coordination	5518	PPP2R1A	OMIM:616362
HP:0011443	Abnormality of coordination	3748	KCNC3	ORPHA:98768
HP:0011443	Abnormality of coordination	3748	KCNC3	OMIM:605259
HP:0011443	Abnormality of coordination	60481	ELOVL5	OMIM:615957
HP:0011443	Abnormality of coordination	60481	ELOVL5	ORPHA:423296
HP:0011443	Abnormality of coordination	80704	SLC19A3	OMIM:607483
HP:0011443	Abnormality of coordination	724066	ATXN8	ORPHA:98760
HP:0011443	Abnormality of coordination	6315	ATXN8OS	ORPHA:98760
HP:0011443	Abnormality of coordination	4311	MME	ORPHA:497764
HP:0011443	Abnormality of coordination	4311	MME	OMIM:617018
HP:0011443	Abnormality of coordination	55210	ATAD3A	ORPHA:496790
HP:0011443	Abnormality of coordination	2232	FDXR	ORPHA:543470
HP:0011443	Abnormality of coordination	7222	TRPC3	ORPHA:458798
HP:0011443	Abnormality of coordination	7222	TRPC3	OMIM:616410
HP:0011443	Abnormality of coordination	5192	PEX10	OMIM:614871
HP:0011443	Abnormality of coordination	1356	CP	ORPHA:48818
HP:0011443	Abnormality of coordination	23400	ATP13A2	OMIM:617225
HP:0011443	Abnormality of coordination	84919	PPP1R15B	OMIM:616817
HP:0011443	Abnormality of coordination	6925	TCF4	OMIM:610954
HP:0011443	Abnormality of coordination	6925	TCF4	ORPHA:2896
HP:0011443	Abnormality of coordination	4677	NARS1	OMIM:619092
HP:0011443	Abnormality of coordination	55739	NAXD	OMIM:618321
HP:0011443	Abnormality of coordination	51741	WWOX	ORPHA:284282
HP:0011443	Abnormality of coordination	51741	WWOX	OMIM:614322
HP:0011443	Abnormality of coordination	9922	IQSEC1	OMIM:618687
HP:0011443	Abnormality of coordination	55149	MTPAP	OMIM:613672
HP:0011443	Abnormality of coordination	23219	FBXO28	OMIM:619777
HP:0011443	Abnormality of coordination	2055	CLN8	ORPHA:1947
HP:0011443	Abnormality of coordination	404672	GTF2H5	ORPHA:33364
HP:0011443	Abnormality of coordination	833	CARS1	ORPHA:33364
HP:0011443	Abnormality of coordination	2068	ERCC2	ORPHA:33364
HP:0011443	Abnormality of coordination	7737	RNF113A	ORPHA:33364
HP:0011443	Abnormality of coordination	7737	RNF113A	OMIM:300953
HP:0011443	Abnormality of coordination	136647	MPLKIP	ORPHA:33364
HP:0011443	Abnormality of coordination	6897	TARS1	ORPHA:33364
HP:0011443	Abnormality of coordination	2071	ERCC3	ORPHA:33364
HP:0011443	Abnormality of coordination	2961	GTF2E2	ORPHA:33364
HP:0011443	Abnormality of coordination	3954	LETM1	OMIM:620089
HP:0011443	Abnormality of coordination	3752	KCND3	OMIM:607346
HP:0011443	Abnormality of coordination	1487	CTBP1	OMIM:617915
HP:0011443	Abnormality of coordination	6595	SMARCA2	OMIM:601358
HP:0011443	Abnormality of coordination	27077	B9D1	OMIM:617120
HP:0011443	Abnormality of coordination	5111	PCNA	ORPHA:438134
HP:0011443	Abnormality of coordination	57716	PRX	OMIM:614895
HP:0011443	Abnormality of coordination	79628	SH3TC2	ORPHA:99949
HP:0011443	Abnormality of coordination	4204	MECP2	OMIM:312750
HP:0011443	Abnormality of coordination	4204	MECP2	ORPHA:3095
HP:0011443	Abnormality of coordination	57410	SCYL1	OMIM:616719
HP:0011443	Abnormality of coordination	57410	SCYL1	ORPHA:466794
HP:0011443	Abnormality of coordination	10382	TUBB4A	OMIM:128101
HP:0011443	Abnormality of coordination	23064	SETX	OMIM:606002
HP:0011443	Abnormality of coordination	9230	RAB11B	OMIM:617807
HP:0011443	Abnormality of coordination	8905	AP1S2	OMIM:304340
HP:0011443	Abnormality of coordination	54704	PDP1	OMIM:608782
HP:0011443	Abnormality of coordination	291	SLC25A4	ORPHA:254892
HP:0011443	Abnormality of coordination	11232	POLG2	ORPHA:254892
HP:0011443	Abnormality of coordination	6134	RPL10	OMIM:300998
HP:0011443	Abnormality of coordination	8925	HERC1	OMIM:617011
HP:0011443	Abnormality of coordination	8925	HERC1	ORPHA:457359
HP:0011443	Abnormality of coordination	1173	AP2M1	OMIM:618587
HP:0011443	Abnormality of coordination	57102	C12orf4	OMIM:618221
HP:0011443	Abnormality of coordination	79876	UBA5	OMIM:617133
HP:0011443	Abnormality of coordination	10765	KDM5B	OMIM:618109
HP:0011443	Abnormality of coordination	57704	GBA2	ORPHA:352641
HP:0011443	Abnormality of coordination	9256	TSPOAP1	ORPHA:101150
HP:0011443	Abnormality of coordination	57465	TBC1D24	OMIM:605021
HP:0011443	Abnormality of coordination	26580	BSCL2	ORPHA:363400
HP:0011443	Abnormality of coordination	6792	CDKL5	ORPHA:3095
HP:0011443	Abnormality of coordination	22854	NTNG1	ORPHA:3095
HP:0011443	Abnormality of coordination	9568	GABBR2	ORPHA:3095
HP:0011443	Abnormality of coordination	8243	SMC1A	ORPHA:3095
HP:0011443	Abnormality of coordination	23102	TBC1D2B	OMIM:619323
HP:0011443	Abnormality of coordination	4081	MAB21L1	OMIM:618479
HP:0011443	Abnormality of coordination	2891	GRIA2	OMIM:618917
HP:0011443	Abnormality of coordination	5994	RFXAP	ORPHA:572
HP:0011443	Abnormality of coordination	4261	CIITA	ORPHA:572
HP:0011443	Abnormality of coordination	5993	RFX5	ORPHA:572
HP:0011443	Abnormality of coordination	8625	RFXANK	ORPHA:572
HP:0011443	Abnormality of coordination	28982	FLVCR1	ORPHA:88628
HP:0011443	Abnormality of coordination	1181	CLCN2	OMIM:615651
HP:0011443	Abnormality of coordination	4125	MAN2B1	OMIM:248500
HP:0011443	Abnormality of coordination	116150	NUS1	OMIM:617831
HP:0011443	Abnormality of coordination	267010	RNU12	OMIM:620208
HP:0011443	Abnormality of coordination	267010	RNU12	ORPHA:512260
HP:0011443	Abnormality of coordination	54834	GDAP2	OMIM:618369
HP:0011443	Abnormality of coordination	54974	THG1L	OMIM:618800
HP:0011443	Abnormality of coordination	4864	NPC1	OMIM:257220
HP:0011443	Abnormality of coordination	3119	HLA-DQB1	OMIM:123400
HP:0011443	Abnormality of coordination	20	ABCA2	OMIM:618808
HP:0011443	Abnormality of coordination	2898	GRIK2	OMIM:619580
HP:0011443	Abnormality of coordination	5611	DNAJC3	OMIM:616192
HP:0011443	Abnormality of coordination	5611	DNAJC3	ORPHA:445062
HP:0011443	Abnormality of coordination	372	ARCN1	OMIM:617164
HP:0011443	Abnormality of coordination	23395	LARS2	OMIM:615300
HP:0011443	Abnormality of coordination	128989	TANGO2	OMIM:616878
HP:0011443	Abnormality of coordination	2065	ERBB3	OMIM:243180
HP:0011443	Abnormality of coordination	27010	TPK1	OMIM:614458
HP:0011443	Abnormality of coordination	87178	PNPT1	ORPHA:101111
HP:0011443	Abnormality of coordination	410	ARSA	ORPHA:309256
HP:0011443	Abnormality of coordination	4929	NR4A2	ORPHA:98808
HP:0011443	Abnormality of coordination	3615	IMPDH2	ORPHA:98808
HP:0011443	Abnormality of coordination	7343	UBTF	ORPHA:500180
HP:0011443	Abnormality of coordination	9829	DNAJC6	ORPHA:391411
HP:0011443	Abnormality of coordination	5420	PODXL	ORPHA:391411
HP:0011443	Abnormality of coordination	8867	SYNJ1	ORPHA:391411
HP:0011443	Abnormality of coordination	5058	PAK1	OMIM:618158
HP:0011443	Abnormality of coordination	122553	TRAPPC6B	OMIM:617862
HP:0011443	Abnormality of coordination	7204	TRIO	ORPHA:476126
HP:0011443	Abnormality of coordination	3295	HSD17B4	OMIM:233400
HP:0011443	Abnormality of coordination	6785	ELOVL4	OMIM:133190
HP:0011443	Abnormality of coordination	10522	DEAF1	ORPHA:468620
HP:0011443	Abnormality of coordination	9516	LITAF	OMIM:601098
HP:0011443	Abnormality of coordination	5456	POU3F4	ORPHA:1435
HP:0011443	Abnormality of coordination	23636	NUP62	ORPHA:225154
HP:0011443	Abnormality of coordination	103	ADAR	ORPHA:225154
HP:0011443	Abnormality of coordination	6389	SDHA	OMIM:619259
HP:0011443	Abnormality of coordination	10479	SLC9A6	ORPHA:85278
HP:0011443	Abnormality of coordination	84823	LMNB2	OMIM:616540
HP:0011443	Abnormality of coordination	22943	DKK1	ORPHA:268882
HP:0011443	Abnormality of coordination	9487	PIGL	OMIM:280000
HP:0011443	Abnormality of coordination	738	VPS51	OMIM:618606
HP:0011443	Abnormality of coordination	81615	TMEM163	OMIM:620243
HP:0011443	Abnormality of coordination	1795	DOCK3	OMIM:618292
HP:0011443	Abnormality of coordination	129285	PPP1R21	OMIM:619383
HP:0011443	Abnormality of coordination	1968	EIF2S3	OMIM:300148
HP:0011443	Abnormality of coordination	84842	HPDL	OMIM:619027
HP:0011443	Abnormality of coordination	2196	FAT2	OMIM:617769
HP:0011443	Abnormality of coordination	9897	WASHC5	ORPHA:100989
HP:0011443	Abnormality of coordination	7852	CXCR4	ORPHA:51636
HP:0011443	Abnormality of coordination	51271	UBAP1	OMIM:618418
HP:0011443	Abnormality of coordination	51271	UBAP1	ORPHA:100993
HP:0011443	Abnormality of coordination	58494	JAM2	OMIM:618824
HP:0011443	Abnormality of coordination	10463	SLC30A9	OMIM:617595
HP:0011443	Abnormality of coordination	6253	RTN2	ORPHA:100993
HP:0011443	Abnormality of coordination	1183	CLCN4	OMIM:300114
HP:0011443	Abnormality of coordination	1183	CLCN4	ORPHA:485350
HP:0011443	Abnormality of coordination	23446	SLC44A1	OMIM:618868
HP:0011443	Abnormality of coordination	23435	TARDBP	ORPHA:275872
HP:0011443	Abnormality of coordination	29110	TBK1	ORPHA:275872
HP:0011443	Abnormality of coordination	55967	NDUFA12	ORPHA:255241
HP:0011443	Abnormality of coordination	51204	TACO1	ORPHA:255241
HP:0011443	Abnormality of coordination	100131801	PET100	ORPHA:255241
HP:0011443	Abnormality of coordination	1355	COX15	ORPHA:255241
HP:0011443	Abnormality of coordination	1892	ECHS1	ORPHA:255241
HP:0011443	Abnormality of coordination	4705	NDUFA10	ORPHA:255241
HP:0011443	Abnormality of coordination	51601	LIPT1	ORPHA:255241
HP:0011443	Abnormality of coordination	4695	NDUFA2	ORPHA:255241
HP:0011443	Abnormality of coordination	4704	NDUFA9	ORPHA:255241
HP:0011443	Abnormality of coordination	2744	GLS	OMIM:618412
HP:0011443	Abnormality of coordination	2678	GGT1	OMIM:231950
HP:0011443	Abnormality of coordination	6575	SLC20A2	OMIM:213600
HP:0011443	Abnormality of coordination	5159	PDGFRB	OMIM:213600
HP:0011443	Abnormality of coordination	10466	COG5	ORPHA:263487
HP:0011443	Abnormality of coordination	10466	COG5	OMIM:613612
HP:0011443	Abnormality of coordination	9420	CYP7B1	ORPHA:100986
HP:0011443	Abnormality of coordination	55532	SLC30A10	ORPHA:309854
HP:0011443	Abnormality of coordination	1340	COX6B1	OMIM:619051
HP:0011443	Abnormality of coordination	51079	NDUFA13	OMIM:618249
HP:0011443	Abnormality of coordination	10715	CERS1	OMIM:616230
HP:0011443	Abnormality of coordination	339983	NAT8L	OMIM:614063
HP:0011443	Abnormality of coordination	83475	DOHH	OMIM:620066
HP:0011443	Abnormality of coordination	22983	MAST1	OMIM:618273
HP:0011443	Abnormality of coordination	53335	BCL11A	OMIM:617101
HP:0011443	Abnormality of coordination	4784	NFIX	ORPHA:420179
HP:0011443	Abnormality of coordination	9091	PIGQ	ORPHA:1934
HP:0011443	Abnormality of coordination	2775	GNAO1	ORPHA:1934
HP:0011443	Abnormality of coordination	2902	GRIN1	ORPHA:1934
HP:0011443	Abnormality of coordination	79751	SLC25A22	ORPHA:1934
HP:0011443	Abnormality of coordination	150094	SIK1	ORPHA:1934
HP:0011443	Abnormality of coordination	8573	CASK	ORPHA:1934
HP:0011443	Abnormality of coordination	2917	GRM7	ORPHA:1934
HP:0011443	Abnormality of coordination	170302	ARX	ORPHA:1934
HP:0011443	Abnormality of coordination	51227	PIGP	ORPHA:1934
HP:0011443	Abnormality of coordination	4761	NEUROD2	ORPHA:1934
HP:0011443	Abnormality of coordination	25942	SIN3A	OMIM:613406
HP:0011443	Abnormality of coordination	658	BMPR1B	OMIM:616849
HP:0011443	Abnormality of coordination	1387	CREBBP	OMIM:180849
HP:0011443	Abnormality of coordination	2033	EP300	OMIM:180849
HP:0011443	Abnormality of coordination	6418	SET	OMIM:618106
HP:0011443	Abnormality of coordination	23126	POGZ	ORPHA:468678
HP:0011443	Abnormality of coordination	55788	LMBRD1	OMIM:277380
HP:0011443	Abnormality of coordination	51324	SPG21	OMIM:248900
HP:0011443	Abnormality of coordination	51109	RDH11	ORPHA:436245
HP:0011443	Abnormality of coordination	5133	PDCD1	OMIM:126200
HP:0011443	Abnormality of coordination	6584	SLC22A5	ORPHA:158
HP:0011443	Abnormality of coordination	6515	SLC2A3	ORPHA:399
HP:0011443	Abnormality of coordination	5888	RAD51	ORPHA:238722
HP:0011443	Abnormality of coordination	10126	DNAL4	ORPHA:238722
HP:0011443	Abnormality of coordination	9423	NTN1	ORPHA:238722
HP:0011443	Abnormality of coordination	7809	BSND	ORPHA:89938
HP:0011443	Abnormality of coordination	1188	CLCNKB	ORPHA:89938
HP:0011443	Abnormality of coordination	1187	CLCNKA	ORPHA:89938
HP:0011443	Abnormality of coordination	57680	CHD8	OMIM:615032
HP:0011443	Abnormality of coordination	23516	SLC39A14	OMIM:617013
HP:0011443	Abnormality of coordination	5063	PAK3	OMIM:300558
HP:0011443	Abnormality of coordination	540	ATP7B	ORPHA:905
HP:0011443	Abnormality of coordination	825	CAPN3	OMIM:253600
HP:0011443	Abnormality of coordination	2334	AFF2	ORPHA:100973
HP:0011443	Abnormality of coordination	859	CAV3	ORPHA:488650
HP:0011443	Abnormality of coordination	7252	TSHB	ORPHA:90674
HP:0011443	Abnormality of coordination	79868	ALG13	ORPHA:324422
HP:0011443	Abnormality of coordination	51	ACOX1	OMIM:618960
HP:0011443	Abnormality of coordination	54941	RNF125	OMIM:616260
HP:0011443	Abnormality of coordination	390594	KBTBD13	ORPHA:171439
HP:0011443	Abnormality of coordination	10324	KLHL41	ORPHA:171439
HP:0011443	Abnormality of coordination	23732	FRRS1L	ORPHA:725
HP:0011443	Abnormality of coordination	7072	TIA1	ORPHA:603
HP:0011443	Abnormality of coordination	10456	HAX1	OMIM:610738
HP:0011443	Abnormality of coordination	51062	ATL1	ORPHA:100984
HP:0011443	Abnormality of coordination	3094	HINT1	ORPHA:324442
HP:0011443	Abnormality of coordination	79912	PYROXD1	OMIM:617258
HP:0011443	Abnormality of coordination	4703	NEB	OMIM:256030
HP:0011443	Abnormality of coordination	1303	COL12A1	ORPHA:75840
HP:0011443	Abnormality of coordination	1291	COL6A1	ORPHA:75840
HP:0011443	Abnormality of coordination	1292	COL6A2	ORPHA:75840
HP:0011443	Abnormality of coordination	1293	COL6A3	ORPHA:75840
HP:0011443	Abnormality of coordination	5339	PLEC	ORPHA:254361
HP:0011443	Abnormality of coordination	10397	NDRG1	OMIM:601455
HP:0011443	Abnormality of coordination	318	NUDT2	OMIM:619844
HP:0011443	Abnormality of coordination	79147	FKRP	OMIM:607155
HP:0011443	Abnormality of coordination	79147	FKRP	OMIM:606612
HP:0011443	Abnormality of coordination	79147	FKRP	ORPHA:34515
HP:0011443	Abnormality of coordination	79147	FKRP	ORPHA:370980
HP:0011443	Abnormality of coordination	2673	GFPT1	ORPHA:353327
HP:0011443	Abnormality of coordination	85365	ALG2	ORPHA:353327
HP:0011443	Abnormality of coordination	199857	ALG14	ORPHA:353327
HP:0011443	Abnormality of coordination	199857	ALG14	OMIM:616227
HP:0011443	Abnormality of coordination	427	ASAH1	OMIM:159950
HP:0011443	Abnormality of coordination	427	ASAH1	ORPHA:2590
HP:0011443	Abnormality of coordination	84665	MYPN	ORPHA:171881
HP:0011443	Abnormality of coordination	7169	TPM2	ORPHA:171881
HP:0011443	Abnormality of coordination	7170	TPM3	ORPHA:171881
HP:0011443	Abnormality of coordination	64856	VWA1	OMIM:619216
HP:0011443	Abnormality of coordination	23317	DNAJC13	ORPHA:411602
HP:0011443	Abnormality of coordination	1981	EIF4G1	ORPHA:411602
HP:0011443	Abnormality of coordination	55737	VPS35	ORPHA:411602
HP:0011443	Abnormality of coordination	120892	LRRK2	ORPHA:411602
HP:0011443	Abnormality of coordination	26058	GIGYF2	ORPHA:411602
HP:0011443	Abnormality of coordination	6622	SNCA	ORPHA:411602
HP:0011443	Abnormality of coordination	54332	GDAP1	ORPHA:101097
HP:0011443	Abnormality of coordination	54332	GDAP1	ORPHA:99948
HP:0011443	Abnormality of coordination	2218	FKTN	OMIM:611588
HP:0011443	Abnormality of coordination	2218	FKTN	ORPHA:370980
HP:0011443	Abnormality of coordination	729920	CRPPA	ORPHA:370980
HP:0011443	Abnormality of coordination	10585	POMT1	ORPHA:370980
HP:0011443	Abnormality of coordination	9896	FIG4	OMIM:611228
HP:0011443	Abnormality of coordination	6445	SGCG	ORPHA:353
HP:0011443	Abnormality of coordination	7273	TTN	OMIM:603689
HP:0011443	Abnormality of coordination	56006	SMG9	OMIM:619995
HP:0011443	Abnormality of coordination	10846	PDE10A	ORPHA:494526
HP:0011443	Abnormality of coordination	10846	PDE10A	OMIM:616921
HP:0011443	Abnormality of coordination	7415	VCP	ORPHA:435387
HP:0011443	Abnormality of coordination	7415	VCP	ORPHA:329478
HP:0011443	Abnormality of coordination	4744	NEFH	OMIM:616924
HP:0011443	Abnormality of coordination	1778	DYNC1H1	OMIM:614228
HP:0011443	Abnormality of coordination	3032	HADHB	ORPHA:746
HP:0011443	Abnormality of coordination	3030	HADHA	ORPHA:746
HP:0011443	Abnormality of coordination	6442	SGCA	ORPHA:62
HP:0011443	Abnormality of coordination	9990	SLC12A6	OMIM:620068
HP:0011443	Abnormality of coordination	58	ACTA1	OMIM:161800
HP:0011443	Abnormality of coordination	5375	PMP2	OMIM:618279
HP:0011443	Abnormality of coordination	2273	FHL1	OMIM:300718
HP:0011443	Abnormality of coordination	8292	COLQ	ORPHA:98915
HP:0011443	Abnormality of coordination	3913	LAMB2	ORPHA:98915
HP:0011443	Abnormality of coordination	111	ADCY5	OMIM:619647
HP:0011443	Abnormality of coordination	383	ARG1	OMIM:207800
HP:0011443	Abnormality of coordination	1073	CFL2	OMIM:610687
HP:0011443	Abnormality of coordination	122622	ADSS1	ORPHA:482601
HP:0011443	Abnormality of coordination	23479	ISCU	OMIM:255125
HP:0011443	Abnormality of coordination	124093	CCDC78	OMIM:614807
HP:0011443	Abnormality of coordination	9181	ARHGEF2	OMIM:617523
HP:0011443	Abnormality of coordination	9927	MFN2	ORPHA:99947
HP:0011443	Abnormality of coordination	65055	REEP1	OMIM:620011
HP:0011443	Abnormality of coordination	6786	STIM1	OMIM:160565
HP:0011443	Abnormality of coordination	54808	DYM	ORPHA:239
HP:0011443	Abnormality of coordination	64324	NSD1	OMIM:117550
HP:0011443	Abnormality of coordination	64324	NSD1	ORPHA:821
HP:0011443	Abnormality of coordination	54585	LZTFL1	OMIM:615994
HP:0011443	Abnormality of coordination	10079	ATP9A	OMIM:620242
HP:0011443	Abnormality of coordination	10297	APC2	ORPHA:821
HP:0011443	Abnormality of coordination	8726	EED	OMIM:617561
HP:0011443	Abnormality of coordination	9578	CDC42BPB	OMIM:619841
HP:0011443	Abnormality of coordination	25828	TXN2	ORPHA:478029
HP:0011443	Abnormality of coordination	6492	SIM1	ORPHA:171829
HP:0011443	Abnormality of coordination	4548	MTR	OMIM:250940
HP:0011443	Abnormality of coordination	10075	HUWE1	OMIM:309590
HP:0011443	Abnormality of coordination	3028	HSD17B10	ORPHA:391428
HP:0011443	Abnormality of coordination	133686	NADK2	ORPHA:431361
HP:0011443	Abnormality of coordination	4038	LRP4	OMIM:614305
HP:0011443	Abnormality of coordination	27249	MMADHC	OMIM:277410
HP:0011443	Abnormality of coordination	26115	TANC2	OMIM:618906
HP:0011443	Abnormality of coordination	498	ATP5F1A	OMIM:620358
HP:0011443	Abnormality of coordination	388015	RTL1	ORPHA:254531
HP:0011443	Abnormality of coordination	388015	RTL1	ORPHA:96184
HP:0011443	Abnormality of coordination	388015	RTL1	ORPHA:254525
HP:0011443	Abnormality of coordination	8788	DLK1	ORPHA:254531
HP:0011443	Abnormality of coordination	8788	DLK1	ORPHA:96184
HP:0011443	Abnormality of coordination	8788	DLK1	ORPHA:254525
HP:0011443	Abnormality of coordination	55384	MEG3	ORPHA:254531
HP:0011443	Abnormality of coordination	55384	MEG3	ORPHA:96184
HP:0011443	Abnormality of coordination	55384	MEG3	ORPHA:254525
HP:0011443	Abnormality of coordination	54914	FOCAD	OMIM:619991
HP:0011443	Abnormality of coordination	7681	MKRN3	OMIM:176270
HP:0011443	Abnormality of coordination	3653	IPW	OMIM:176270
HP:0011443	Abnormality of coordination	54551	MAGEL2	OMIM:176270
HP:0011443	Abnormality of coordination	791114	PWRN1	OMIM:176270
HP:0011443	Abnormality of coordination	100033413	SNORD116-1	OMIM:176270
HP:0011443	Abnormality of coordination	8924	HERC2	OMIM:176270
HP:0011443	Abnormality of coordination	145624	PWAR1	OMIM:176270
HP:0011443	Abnormality of coordination	23742	NPAP1	OMIM:176270
HP:0011443	Abnormality of coordination	338433	SNORD115-1	OMIM:176270
HP:0011443	Abnormality of coordination	9839	ZEB2	ORPHA:261537
HP:0011443	Abnormality of coordination	9839	ZEB2	ORPHA:261552
HP:0011443	Abnormality of coordination	10681	GNB5	OMIM:617182
HP:0011443	Abnormality of coordination	10681	GNB5	ORPHA:542306
HP:0011443	Abnormality of coordination	63895	PIEZO2	OMIM:617146
HP:0011443	Abnormality of coordination	10743	RAI1	ORPHA:1713
HP:0011443	Abnormality of coordination	10020	GNE	OMIM:269921
HP:0011443	Abnormality of coordination	93986	FOXP2	ORPHA:209908
HP:0011443	Abnormality of coordination	81846	SBF2	ORPHA:99956
HP:0011443	Abnormality of coordination	1760	DMPK	ORPHA:589821
HP:0011443	Abnormality of coordination	1523	CUX1	OMIM:618330
HP:0011443	Abnormality of coordination	29954	POMT2	ORPHA:370968
HP:0011443	Abnormality of coordination	9215	LARGE1	ORPHA:370968
HP:0011443	Abnormality of coordination	3785	KCNQ2	ORPHA:439218
HP:0011443	Abnormality of coordination	55367	PIDD1	OMIM:619827
HP:0011443	Abnormality of coordination	4137	MAPT	ORPHA:240071
HP:0011443	Abnormality of coordination	154881	KCTD7	ORPHA:263516
HP:0011443	Abnormality of coordination	2554	GABRA1	ORPHA:33069
HP:0011443	Abnormality of coordination	57526	PCDH19	ORPHA:33069
HP:0011443	Abnormality of coordination	4763	NF1	ORPHA:363700
HP:0011445	Athetoid cerebral palsy	816	CAMK2B	OMIM:617799
HP:0011445	Athetoid cerebral palsy	6857	SYT1	OMIM:618218
HP:0011445	Athetoid cerebral palsy	6857	SYT1	ORPHA:522077
HP:0011445	Athetoid cerebral palsy	8241	RBM10	ORPHA:2886
HP:0011446	Abnormality of higher mental function	778	CACNA1F	OMIM:300476
HP:0011446	Abnormality of higher mental function	778	CACNA1F	ORPHA:1872
HP:0011446	Abnormality of higher mental function	7299	TYR	OMIM:203100
HP:0011446	Abnormality of higher mental function	7299	TYR	OMIM:606952
HP:0011446	Abnormality of higher mental function	7299	TYR	ORPHA:79431
HP:0011446	Abnormality of higher mental function	7299	TYR	ORPHA:79434
HP:0011446	Abnormality of higher mental function	4166	CHST6	ORPHA:98969
HP:0011446	Abnormality of higher mental function	4166	CHST6	OMIM:217800
HP:0011446	Abnormality of higher mental function	2780	GNAT2	OMIM:613856
HP:0011446	Abnormality of higher mental function	2780	GNAT2	ORPHA:1871
HP:0011446	Abnormality of higher mental function	2780	GNAT2	ORPHA:49382
HP:0011446	Abnormality of higher mental function	7045	TGFBI	ORPHA:98962
HP:0011446	Abnormality of higher mental function	7045	TGFBI	ORPHA:98964
HP:0011446	Abnormality of higher mental function	7045	TGFBI	ORPHA:98960
HP:0011446	Abnormality of higher mental function	7045	TGFBI	OMIM:608470
HP:0011446	Abnormality of higher mental function	7045	TGFBI	OMIM:602082
HP:0011446	Abnormality of higher mental function	54714	CNGB3	OMIM:262300
HP:0011446	Abnormality of higher mental function	54714	CNGB3	ORPHA:1871
HP:0011446	Abnormality of higher mental function	54714	CNGB3	ORPHA:49382
HP:0011446	Abnormality of higher mental function	1638	DCT	OMIM:619165
HP:0011446	Abnormality of higher mental function	26504	CNNM4	ORPHA:1873
HP:0011446	Abnormality of higher mental function	26504	CNNM4	OMIM:217080
HP:0011446	Abnormality of higher mental function	22926	ATF6	ORPHA:1872
HP:0011446	Abnormality of higher mental function	22926	ATF6	ORPHA:49382
HP:0011446	Abnormality of higher mental function	22926	ATF6	OMIM:616517
HP:0011446	Abnormality of higher mental function	84839	RAX2	ORPHA:1872
HP:0011446	Abnormality of higher mental function	84839	RAX2	OMIM:610381
HP:0011446	Abnormality of higher mental function	1261	CNGA3	ORPHA:1872
HP:0011446	Abnormality of higher mental function	1261	CNGA3	ORPHA:49382
HP:0011446	Abnormality of higher mental function	1261	CNGA3	OMIM:216900
HP:0011446	Abnormality of higher mental function	5956	OPN1LW	ORPHA:1872
HP:0011446	Abnormality of higher mental function	5956	OPN1LW	OMIM:303700
HP:0011446	Abnormality of higher mental function	5956	OPN1LW	ORPHA:16
HP:0011446	Abnormality of higher mental function	8754	ADAM9	ORPHA:1872
HP:0011446	Abnormality of higher mental function	22999	RIMS1	ORPHA:1872
HP:0011446	Abnormality of higher mental function	128338	DRAM2	ORPHA:1872
HP:0011446	Abnormality of higher mental function	128338	DRAM2	OMIM:616502
HP:0011446	Abnormality of higher mental function	2652	OPN1MW	ORPHA:1872
HP:0011446	Abnormality of higher mental function	2652	OPN1MW	OMIM:303700
HP:0011446	Abnormality of higher mental function	2652	OPN1MW	ORPHA:16
HP:0011446	Abnormality of higher mental function	9094	UNC119	ORPHA:1872
HP:0011446	Abnormality of higher mental function	93589	CACNA2D4	ORPHA:1872
HP:0011446	Abnormality of higher mental function	93589	CACNA2D4	OMIM:610478
HP:0011446	Abnormality of higher mental function	2978	GUCA1A	ORPHA:1872
HP:0011446	Abnormality of higher mental function	2978	GUCA1A	ORPHA:1871
HP:0011446	Abnormality of higher mental function	2978	GUCA1A	OMIM:602093
HP:0011446	Abnormality of higher mental function	282809	POC1B	ORPHA:1872
HP:0011446	Abnormality of higher mental function	83394	PITPNM3	ORPHA:1872
HP:0011446	Abnormality of higher mental function	83394	PITPNM3	OMIM:600977
HP:0011446	Abnormality of higher mental function	23093	TTLL5	ORPHA:1872
HP:0011446	Abnormality of higher mental function	83723	TLCD3B	ORPHA:1872
HP:0011446	Abnormality of higher mental function	83723	TLCD3B	OMIM:619531
HP:0011446	Abnormality of higher mental function	9364	RAB28	ORPHA:1872
HP:0011446	Abnormality of higher mental function	5146	PDE6C	ORPHA:1871
HP:0011446	Abnormality of higher mental function	5146	PDE6C	OMIM:613093
HP:0011446	Abnormality of higher mental function	5146	PDE6C	ORPHA:49382
HP:0011446	Abnormality of higher mental function	169522	KCNV2	OMIM:610356
HP:0011446	Abnormality of higher mental function	200576	PIKFYVE	OMIM:121850
HP:0011446	Abnormality of higher mental function	63915	BLOC1S5	OMIM:619172
HP:0011446	Abnormality of higher mental function	3105	HLA-A	ORPHA:179
HP:0011446	Abnormality of higher mental function	283652	SLC24A5	OMIM:113750
HP:0011446	Abnormality of higher mental function	283652	SLC24A5	ORPHA:370097
HP:0011446	Abnormality of higher mental function	3850	KRT3	OMIM:618767
HP:0011446	Abnormality of higher mental function	80326	WNT10A	OMIM:257980
HP:0011446	Abnormality of higher mental function	80326	WNT10A	OMIM:150400
HP:0011446	Abnormality of higher mental function	1420	CRYGC	OMIM:604307
HP:0011446	Abnormality of higher mental function	5333	PLCD1	ORPHA:2387
HP:0011446	Abnormality of higher mental function	1474	CST6	OMIM:618535
HP:0011446	Abnormality of higher mental function	10804	GJB6	ORPHA:477
HP:0011446	Abnormality of higher mental function	10804	GJB6	OMIM:129500
HP:0011446	Abnormality of higher mental function	5149	PDE6H	OMIM:610024
HP:0011446	Abnormality of higher mental function	5149	PDE6H	ORPHA:49382
HP:0011446	Abnormality of higher mental function	5959	RDH5	ORPHA:52427
HP:0011446	Abnormality of higher mental function	79803	HPS6	OMIM:614075
HP:0011446	Abnormality of higher mental function	3859	KRT12	OMIM:122100
HP:0011446	Abnormality of higher mental function	326	AIRE	ORPHA:3453
HP:0011446	Abnormality of higher mental function	83938	LRMDA	OMIM:615179
HP:0011446	Abnormality of higher mental function	1634	DCN	OMIM:610048
HP:0011446	Abnormality of higher mental function	2303	FOXC2	ORPHA:33001
HP:0011446	Abnormality of higher mental function	2303	FOXC2	OMIM:153400
HP:0011446	Abnormality of higher mental function	64127	NOD2	ORPHA:90340
HP:0011446	Abnormality of higher mental function	5429	POLH	ORPHA:90342
HP:0011446	Abnormality of higher mental function	5429	POLH	OMIM:278750
HP:0011446	Abnormality of higher mental function	8943	AP3D1	ORPHA:54
HP:0011446	Abnormality of higher mental function	8943	AP3D1	ORPHA:1000
HP:0011446	Abnormality of higher mental function	4935	GPR143	ORPHA:54
HP:0011446	Abnormality of higher mental function	4935	GPR143	OMIM:300500
HP:0011446	Abnormality of higher mental function	58495	OVOL2	OMIM:122000
HP:0011446	Abnormality of higher mental function	58495	OVOL2	ORPHA:98973
HP:0011446	Abnormality of higher mental function	4157	MC1R	ORPHA:79432
HP:0011446	Abnormality of higher mental function	6935	ZEB1	ORPHA:98973
HP:0011446	Abnormality of higher mental function	30813	VSX1	ORPHA:98973
HP:0011446	Abnormality of higher mental function	79977	GRHL2	ORPHA:98973
HP:0011446	Abnormality of higher mental function	1296	COL8A2	ORPHA:98973
HP:0011446	Abnormality of higher mental function	51151	SLC45A2	ORPHA:79435
HP:0011446	Abnormality of higher mental function	114902	C1QTNF5	ORPHA:67042
HP:0011446	Abnormality of higher mental function	83552	MFRP	OMIM:611040
HP:0011446	Abnormality of higher mental function	22861	NLRP1	OMIM:617388
HP:0011446	Abnormality of higher mental function	2784	GNB3	OMIM:617024
HP:0011446	Abnormality of higher mental function	11190	CEP250	OMIM:618358
HP:0011446	Abnormality of higher mental function	611	OPN1SW	ORPHA:88629
HP:0011446	Abnormality of higher mental function	10320	IKZF1	ORPHA:36426
HP:0011446	Abnormality of higher mental function	6768	ST14	OMIM:602400
HP:0011446	Abnormality of higher mental function	2202	EFEMP1	ORPHA:75376
HP:0011446	Abnormality of higher mental function	3426	CFI	ORPHA:75376
HP:0011446	Abnormality of higher mental function	388531	RGS9BP	ORPHA:75374
HP:0011446	Abnormality of higher mental function	8787	RGS9	ORPHA:75374
HP:0011446	Abnormality of higher mental function	4070	TACSTD2	OMIM:204870
HP:0011446	Abnormality of higher mental function	3257	HPS1	OMIM:203300
HP:0011446	Abnormality of higher mental function	1308	COL17A1	ORPHA:293381
HP:0011446	Abnormality of higher mental function	1308	COL17A1	OMIM:122400
HP:0011446	Abnormality of higher mental function	22943	DKK1	ORPHA:268882
HP:0011446	Abnormality of higher mental function	23155	CLCC1	OMIM:609913
HP:0011446	Abnormality of higher mental function	3852	KRT5	ORPHA:79396
HP:0011446	Abnormality of higher mental function	3861	KRT14	ORPHA:79396
HP:0011446	Abnormality of higher mental function	7132	TNFRSF1A	ORPHA:32960
HP:0011446	Abnormality of higher mental function	2212	FCGR2A	OMIM:152700
HP:0011446	Abnormality of higher mental function	2213	FCGR2B	OMIM:152700
HP:0011446	Abnormality of higher mental function	1493	CTLA4	OMIM:152700
HP:0011446	Abnormality of higher mental function	1773	DNASE1	OMIM:152700
HP:0011446	Abnormality of higher mental function	54675	CRLS1	OMIM:620167
HP:0011446	Abnormality of higher mental function	27089	UQCRQ	OMIM:615159
HP:0011446	Abnormality of higher mental function	8518	ELP1	OMIM:223900
HP:0011446	Abnormality of higher mental function	165918	RNF168	ORPHA:420741
HP:0011446	Abnormality of higher mental function	1352	COX10	OMIM:619046
HP:0011446	Abnormality of higher mental function	6821	SUOX	OMIM:272300
HP:0011446	Abnormality of higher mental function	8974	P4HA2	ORPHA:397
HP:0011446	Abnormality of higher mental function	2859	GPR35	ORPHA:171
HP:0011446	Abnormality of higher mental function	10507	SEMA4D	ORPHA:171
HP:0011446	Abnormality of higher mental function	4485	MST1	ORPHA:171
HP:0011446	Abnormality of higher mental function	1175	AP2S1	OMIM:600740
HP:0011446	Abnormality of higher mental function	84909	AOPEP	OMIM:619565
HP:0011446	Abnormality of higher mental function	2289	FKBP5	OMIM:608516
HP:0011446	Abnormality of higher mental function	3759	KCNJ2	OMIM:170390
HP:0011446	Abnormality of higher mental function	5133	PDCD1	OMIM:126200
HP:0011446	Abnormality of higher mental function	5980	REV3L	ORPHA:570
HP:0011446	Abnormality of higher mental function	23129	PLXND1	ORPHA:570
HP:0011446	Abnormality of higher mental function	23405	DICER1	OMIM:618272
HP:0011446	Abnormality of higher mental function	79581	SLC52A2	OMIM:614707
HP:0011446	Abnormality of higher mental function	4081	MAB21L1	OMIM:618479
HP:0011446	Abnormality of higher mental function	4511	MT-TC	OMIM:540000
HP:0011446	Abnormality of higher mental function	4577	MT-TV	OMIM:540000
HP:0011446	Abnormality of higher mental function	1471	CST3	OMIM:105150
HP:0011446	Abnormality of higher mental function	4353	MPO	OMIM:104300
HP:0011446	Abnormality of higher mental function	4846	NOS3	OMIM:104300
HP:0011446	Abnormality of higher mental function	5328	PLAU	OMIM:104300
HP:0011446	Abnormality of higher mental function	54822	TRPM7	OMIM:105500
HP:0011446	Abnormality of higher mental function	126129	CPT1C	ORPHA:444099
HP:0011446	Abnormality of higher mental function	80217	CFAP43	OMIM:236690
HP:0011446	Abnormality of higher mental function	6228	RPS23	OMIM:617412
HP:0011446	Abnormality of higher mental function	5361	PLXNA1	OMIM:619955
HP:0011446	Abnormality of higher mental function	84879	MFSD2A	OMIM:616486
HP:0011446	Abnormality of higher mental function	57169	ZNFX1	OMIM:619644
HP:0011446	Abnormality of higher mental function	26173	INTS1	OMIM:618571
HP:0011446	Abnormality of higher mental function	6650	CAPN15	OMIM:619318
HP:0011446	Abnormality of higher mental function	23414	ZFPM2	OMIM:616067
HP:0011446	Abnormality of higher mental function	5702	PSMC3	OMIM:619354
HP:0011446	Abnormality of higher mental function	1984	EIF5A	OMIM:619376
HP:0011446	Abnormality of higher mental function	1496	CTNNA2	OMIM:618174
HP:0011446	Abnormality of higher mental function	81846	SBF2	ORPHA:99956
HP:0011446	Abnormality of higher mental function	53834	FGFRL1	OMIM:194190
HP:0011446	Abnormality of higher mental function	339983	NAT8L	OMIM:614063
HP:0011446	Abnormality of higher mental function	116115	ZNF526	OMIM:619877
HP:0011446	Abnormality of higher mental function	10236	HNRNPR	OMIM:620073
HP:0011446	Abnormality of higher mental function	4208	MEF2C	ORPHA:228384
HP:0011446	Abnormality of higher mental function	4208	MEF2C	OMIM:613443
HP:0011446	Abnormality of higher mental function	23499	MACF1	ORPHA:572013
HP:0011446	Abnormality of higher mental function	84894	LINGO1	OMIM:618103
HP:0011446	Abnormality of higher mental function	22871	NLGN1	OMIM:618830
HP:0011446	Abnormality of higher mental function	6531	SLC6A3	ORPHA:238455
HP:0011446	Abnormality of higher mental function	249	ALPL	OMIM:241500
HP:0011446	Abnormality of higher mental function	105371045	PERCC1	ORPHA:92050
HP:0011446	Abnormality of higher mental function	25839	COG4	ORPHA:263501
HP:0011446	Abnormality of higher mental function	25839	COG4	OMIM:613489
HP:0011446	Abnormality of higher mental function	55687	TRMU	OMIM:613070
HP:0011446	Abnormality of higher mental function	1594	CYP27B1	OMIM:264700
HP:0011446	Abnormality of higher mental function	1594	CYP27B1	ORPHA:289157
HP:0011446	Abnormality of higher mental function	8789	FBP2	OMIM:619864
HP:0011446	Abnormality of higher mental function	4338	MOCS2	OMIM:252160
HP:0011446	Abnormality of higher mental function	1267	CNP	OMIM:619071
HP:0011446	Abnormality of higher mental function	3043	HBB	ORPHA:231214
HP:0011446	Abnormality of higher mental function	3043	HBB	ORPHA:231226
HP:0011446	Abnormality of higher mental function	149371	EXOC8	OMIM:619076
HP:0011446	Abnormality of higher mental function	120227	CYP2R1	ORPHA:289157
HP:0011446	Abnormality of higher mental function	54914	FOCAD	OMIM:619991
HP:0011446	Abnormality of higher mental function	5741	PTH	OMIM:146200
HP:0011446	Abnormality of higher mental function	28962	OSTM1	OMIM:259720
HP:0011446	Abnormality of higher mental function	8675	STX16	ORPHA:94089
HP:0011446	Abnormality of higher mental function	55610	VPS50	OMIM:619685
HP:0011446	Abnormality of higher mental function	4868	NPHS1	ORPHA:656
HP:0011446	Abnormality of higher mental function	23607	CD2AP	ORPHA:656
HP:0011446	Abnormality of higher mental function	9688	NUP93	ORPHA:656
HP:0011446	Abnormality of higher mental function	4643	MYO1E	ORPHA:656
HP:0011446	Abnormality of higher mental function	64423	INF2	ORPHA:656
HP:0011446	Abnormality of higher mental function	26130	GAPVD1	ORPHA:656
HP:0011446	Abnormality of higher mental function	51479	ANKFY1	ORPHA:656
HP:0011446	Abnormality of higher mental function	54443	ANLN	ORPHA:656
HP:0011446	Abnormality of higher mental function	5800	PTPRO	ORPHA:656
HP:0011446	Abnormality of higher mental function	286204	CRB2	ORPHA:656
HP:0011446	Abnormality of higher mental function	23165	NUP205	ORPHA:656
HP:0011446	Abnormality of higher mental function	2013	EMP2	ORPHA:656
HP:0011446	Abnormality of higher mental function	51196	PLCE1	ORPHA:656
HP:0011446	Abnormality of higher mental function	1285	COL4A3	ORPHA:656
HP:0011446	Abnormality of higher mental function	79934	COQ8B	ORPHA:656
HP:0011446	Abnormality of higher mental function	23279	NUP160	ORPHA:656
HP:0011446	Abnormality of higher mental function	9863	MAGI2	ORPHA:656
HP:0011446	Abnormality of higher mental function	81	ACTN4	ORPHA:656
HP:0011446	Abnormality of higher mental function	7225	TRPC6	ORPHA:656
HP:0011446	Abnormality of higher mental function	8542	APOL1	ORPHA:656
HP:0011446	Abnormality of higher mental function	54885	TBC1D8B	ORPHA:656
HP:0011446	Abnormality of higher mental function	7827	NPHS2	ORPHA:656
HP:0011446	Abnormality of higher mental function	83478	ARHGAP24	ORPHA:656
HP:0011446	Abnormality of higher mental function	23500	DAAM2	ORPHA:656
HP:0011446	Abnormality of higher mental function	8869	ST3GAL5	OMIM:609056
HP:0011446	Abnormality of higher mental function	10588	MTHFS	OMIM:618367
HP:0011446	Abnormality of higher mental function	7421	VDR	OMIM:277440
HP:0011446	Abnormality of higher mental function	5092	PCBD1	ORPHA:1578
HP:0011446	Abnormality of higher mental function	11340	EXOSC8	OMIM:616081
HP:0011446	Abnormality of higher mental function	5167	ENPP1	ORPHA:51608
HP:0011446	Abnormality of higher mental function	368	ABCC6	ORPHA:51608
HP:0011446	Abnormality of higher mental function	51501	HIKESHI	OMIM:616881
HP:0011446	Abnormality of higher mental function	3704	ITPA	OMIM:616647
HP:0011446	Abnormality of higher mental function	2222	FDFT1	OMIM:618156
HP:0011446	Abnormality of higher mental function	90522	YIF1B	OMIM:619125
HP:0011446	Abnormality of higher mental function	374354	NHLRC2	OMIM:618278
HP:0011446	Abnormality of higher mental function	51142	CHCHD2	OMIM:616710
HP:0011446	Abnormality of higher mental function	7384	UQCRC1	OMIM:619279
HP:0011446	Abnormality of higher mental function	4312	MMP1	ORPHA:79408
HP:0011446	Abnormality of higher mental function	1294	COL7A1	ORPHA:79408
HP:0011446	Abnormality of higher mental function	1294	COL7A1	ORPHA:89842
HP:0011446	Abnormality of higher mental function	3117	HLA-DQA1	OMIM:212750
HP:0011446	Abnormality of higher mental function	2324	FLT4	OMIM:618780
HP:0011446	Abnormality of higher mental function	51284	TLR7	OMIM:301080
HP:0011446	Abnormality of higher mental function	23137	SMC5	OMIM:620185
HP:0011446	Abnormality of higher mental function	2947	GSTM3	ORPHA:586
HP:0011446	Abnormality of higher mental function	1084	CEACAM3	ORPHA:586
HP:0011446	Abnormality of higher mental function	6556	SLC11A1	ORPHA:586
HP:0011446	Abnormality of higher mental function	51164	DCTN4	ORPHA:586
HP:0011446	Abnormality of higher mental function	3783	KCNN4	ORPHA:586
HP:0011446	Abnormality of higher mental function	4282	MIF	ORPHA:586
HP:0011446	Abnormality of higher mental function	6550	SLC9A3	ORPHA:586
HP:0011446	Abnormality of higher mental function	3162	HMOX1	ORPHA:586
HP:0011446	Abnormality of higher mental function	115019	SLC26A9	ORPHA:586
HP:0011446	Abnormality of higher mental function	11254	SLC6A14	ORPHA:586
HP:0011446	Abnormality of higher mental function	5265	SERPINA1	ORPHA:586
HP:0011446	Abnormality of higher mental function	1080	CFTR	ORPHA:586
HP:0011446	Abnormality of higher mental function	22802	CLCA4	ORPHA:586
HP:0011446	Abnormality of higher mental function	4680	CEACAM6	ORPHA:586
HP:0011446	Abnormality of higher mental function	8148	TAF15	ORPHA:803
HP:0011446	Abnormality of higher mental function	5445	PON2	ORPHA:803
HP:0011446	Abnormality of higher mental function	55830	GLT8D1	ORPHA:803
HP:0011446	Abnormality of higher mental function	755	CFAP410	ORPHA:803
HP:0011446	Abnormality of higher mental function	10891	PPARGC1A	ORPHA:803
HP:0011446	Abnormality of higher mental function	5444	PON1	ORPHA:803
HP:0011446	Abnormality of higher mental function	5446	PON3	ORPHA:803
HP:0011446	Abnormality of higher mental function	283	ANG	ORPHA:803
HP:0011446	Abnormality of higher mental function	2043	EPHA4	ORPHA:803
HP:0011446	Abnormality of higher mental function	1610	DAO	ORPHA:803
HP:0011446	Abnormality of higher mental function	2066	ERBB4	ORPHA:803
HP:0011446	Abnormality of higher mental function	23025	UNC13A	ORPHA:803
HP:0011446	Abnormality of higher mental function	26012	NSMF	ORPHA:432
HP:0011446	Abnormality of higher mental function	2796	GNRH1	ORPHA:432
HP:0011446	Abnormality of higher mental function	2798	GNRHR	ORPHA:432
HP:0011446	Abnormality of higher mental function	84634	KISS1R	ORPHA:432
HP:0011446	Abnormality of higher mental function	3814	KISS1	ORPHA:432
HP:0011446	Abnormality of higher mental function	10046	MAMLD1	ORPHA:95706
HP:0011446	Abnormality of higher mental function	595	CCND1	ORPHA:892
HP:0011446	Abnormality of higher mental function	9699	RIMS2	OMIM:618970
HP:0011446	Abnormality of higher mental function	8218	CLTCL1	ORPHA:453510
HP:0011446	Abnormality of higher mental function	55181	SMG8	OMIM:619268
HP:0011446	Abnormality of higher mental function	94005	PIGS	OMIM:618143
HP:0011446	Abnormality of higher mental function	81693	AMN	ORPHA:35858
HP:0011446	Abnormality of higher mental function	4091	SMAD6	OMIM:617439
HP:0011446	Abnormality of higher mental function	55621	TRMT1	OMIM:618302
HP:0011446	Abnormality of higher mental function	51633	OTUD6B	OMIM:617452
HP:0011446	Abnormality of higher mental function	9354	UBE4A	OMIM:619639
HP:0011446	Abnormality of higher mental function	9772	TMEM94	OMIM:618316
HP:0011446	Abnormality of higher mental function	6443	SGCB	ORPHA:119
HP:0011446	Abnormality of higher mental function	695	BTK	OMIM:300755
HP:0011446	Abnormality of higher mental function	4967	OGDH	OMIM:203740
HP:0011446	Abnormality of higher mental function	6096	RORB	OMIM:618357
HP:0011446	Abnormality of higher mental function	92255	LMBRD2	OMIM:619694
HP:0011446	Abnormality of higher mental function	2019	EN1	OMIM:619218
HP:0011446	Abnormality of higher mental function	63931	MRPS14	OMIM:618378
HP:0011446	Abnormality of higher mental function	55697	VAC14	OMIM:617054
HP:0011446	Abnormality of higher mental function	2887	GRB10	ORPHA:96182
HP:0011446	Abnormality of higher mental function	23387	SIK3	OMIM:618162
HP:0011446	Abnormality of higher mental function	1315	COPB1	OMIM:619255
HP:0011446	Abnormality of higher mental function	2801	GOLGA2	OMIM:620240
HP:0011446	Abnormality of higher mental function	26960	NBEA	OMIM:619157
HP:0011446	Abnormality of higher mental function	340990	OTOG	OMIM:614945
HP:0011446	Abnormality of higher mental function	3199	HOXA2	ORPHA:83463
HP:0011446	Abnormality of higher mental function	4010	LMX1B	ORPHA:495818
HP:0011446	Abnormality of higher mental function	56984	PSMG2	OMIM:619183
HP:0011446	Abnormality of higher mental function	89891	DYNC2I2	OMIM:615633
HP:0011446	Abnormality of higher mental function	23028	KDM1A	OMIM:616728
HP:0011446	Abnormality of higher mental function	23028	KDM1A	ORPHA:477993
HP:0011446	Abnormality of higher mental function	91137	SLC25A46	OMIM:616505
HP:0011446	Abnormality of higher mental function	6678	SPARC	OMIM:616507
HP:0011446	Abnormality of higher mental function	2806	GOT2	OMIM:618721
HP:0011446	Abnormality of higher mental function	84148	KAT8	OMIM:618974
HP:0011446	Abnormality of higher mental function	27034	ACAD8	ORPHA:79159
HP:0011446	Abnormality of higher mental function	10054	UBA2	OMIM:619959
HP:0011446	Abnormality of higher mental function	10501	SEMA6B	OMIM:618876
HP:0011446	Abnormality of higher mental function	28960	DCPS	OMIM:616459
HP:0011446	Abnormality of higher mental function	23184	MESD	OMIM:618644
HP:0011446	Abnormality of higher mental function	26057	ANKRD17	OMIM:619504
HP:0011446	Abnormality of higher mental function	29081	METTL5	OMIM:618665
HP:0011446	Abnormality of higher mental function	10463	SLC30A9	OMIM:617595
HP:0011446	Abnormality of higher mental function	25981	DNAH1	ORPHA:244
HP:0011446	Abnormality of higher mental function	115948	ODAD3	ORPHA:244
HP:0011446	Abnormality of higher mental function	54768	HYDIN	ORPHA:244
HP:0011446	Abnormality of higher mental function	352909	DNAAF3	ORPHA:244
HP:0011446	Abnormality of higher mental function	27148	STK36	ORPHA:244
HP:0011446	Abnormality of higher mental function	51314	NME8	ORPHA:244
HP:0011446	Abnormality of higher mental function	92749	DRC1	ORPHA:244
HP:0011446	Abnormality of higher mental function	54970	TTC12	ORPHA:244
HP:0011446	Abnormality of higher mental function	152110	NEK10	ORPHA:244
HP:0011446	Abnormality of higher mental function	2302	FOXJ1	ORPHA:244
HP:0011446	Abnormality of higher mental function	221421	RSPH9	ORPHA:244
HP:0011446	Abnormality of higher mental function	85478	CCDC65	ORPHA:244
HP:0011446	Abnormality of higher mental function	55036	CCDC40	ORPHA:244
HP:0011446	Abnormality of higher mental function	51364	ZMYND10	ORPHA:244
HP:0011446	Abnormality of higher mental function	64446	DNAI2	ORPHA:244
HP:0011446	Abnormality of higher mental function	6674	SPAG1	ORPHA:244
HP:0011446	Abnormality of higher mental function	83544	DNAL1	ORPHA:244
HP:0011446	Abnormality of higher mental function	89765	RSPH1	ORPHA:244
HP:0011446	Abnormality of higher mental function	83538	ODAD4	ORPHA:244
HP:0011446	Abnormality of higher mental function	200373	CFAP221	ORPHA:244
HP:0011446	Abnormality of higher mental function	374407	DNAJB13	ORPHA:244
HP:0011446	Abnormality of higher mental function	55172	DNAAF2	ORPHA:244
HP:0011446	Abnormality of higher mental function	2622	GAS8	ORPHA:244
HP:0011446	Abnormality of higher mental function	23639	DNAAF11	ORPHA:244
HP:0011446	Abnormality of higher mental function	27019	DNAI1	ORPHA:244
HP:0011446	Abnormality of higher mental function	345895	RSPH4A	ORPHA:244
HP:0011446	Abnormality of higher mental function	54919	DNAAF5	ORPHA:244
HP:0011446	Abnormality of higher mental function	388389	CCDC103	ORPHA:244
HP:0011446	Abnormality of higher mental function	93233	ODAD1	ORPHA:244
HP:0011446	Abnormality of higher mental function	55130	ODAD2	ORPHA:244
HP:0011446	Abnormality of higher mental function	1767	DNAH5	ORPHA:244
HP:0011446	Abnormality of higher mental function	83861	RSPH3	ORPHA:244
HP:0011446	Abnormality of higher mental function	345643	MCIDAS	ORPHA:244
HP:0011446	Abnormality of higher mental function	56683	CFAP298	ORPHA:244
HP:0011446	Abnormality of higher mental function	79925	SPEF2	ORPHA:244
HP:0011446	Abnormality of higher mental function	10309	CCNO	ORPHA:244
HP:0011446	Abnormality of higher mental function	115399	LRRC56	ORPHA:244
HP:0011446	Abnormality of higher mental function	139212	DNAAF6	ORPHA:244
HP:0011446	Abnormality of higher mental function	123872	DNAAF1	ORPHA:244
HP:0011446	Abnormality of higher mental function	85016	CFAP300	ORPHA:244
HP:0011446	Abnormality of higher mental function	339829	CCDC39	ORPHA:244
HP:0011446	Abnormality of higher mental function	8701	DNAH11	ORPHA:244
HP:0011446	Abnormality of higher mental function	1770	DNAH9	ORPHA:244
HP:0011446	Abnormality of higher mental function	246176	GAS2L2	ORPHA:244
HP:0011446	Abnormality of higher mental function	5587	PRKD1	OMIM:617364
HP:0011446	Abnormality of higher mental function	6477	SIAH1	OMIM:619314
HP:0011446	Abnormality of higher mental function	55628	ZNF407	OMIM:619557
HP:0011446	Abnormality of higher mental function	25929	GEMIN5	OMIM:619333
HP:0011446	Abnormality of higher mental function	9496	TBX4	ORPHA:261279
HP:0011446	Abnormality of higher mental function	7068	THRB	OMIM:188570
HP:0011446	Abnormality of higher mental function	55526	DHTKD1	OMIM:204750
HP:0011446	Abnormality of higher mental function	3839	KPNA3	OMIM:620106
HP:0011446	Abnormality of higher mental function	64858	DCLRE1B	OMIM:620133
HP:0011446	Abnormality of higher mental function	9325	TRIP4	ORPHA:486815
HP:0011446	Abnormality of higher mental function	4702	NDUFA8	OMIM:619272
HP:0011446	Abnormality of higher mental function	375	ARF1	OMIM:618185
HP:0011446	Abnormality of higher mental function	55503	TRPV6	OMIM:618188
HP:0011446	Abnormality of higher mental function	2615	LRRC32	OMIM:619074
HP:0011446	Abnormality of higher mental function	1028	CDKN1C	ORPHA:397590
HP:0011446	Abnormality of higher mental function	5324	PLAG1	ORPHA:397590
HP:0011446	Abnormality of higher mental function	286262	TPRN	OMIM:613307
HP:0011446	Abnormality of higher mental function	51244	CCDC174	OMIM:616816
HP:0011446	Abnormality of higher mental function	1384	CRAT	OMIM:617917
HP:0011446	Abnormality of higher mental function	9775	EIF4A3	OMIM:268305
HP:0011446	Abnormality of higher mental function	93183	PIGM	OMIM:610293
HP:0011446	Abnormality of higher mental function	27152	INTU	OMIM:617926
HP:0011446	Abnormality of higher mental function	658	BMPR1B	OMIM:616849
HP:0011446	Abnormality of higher mental function	55784	MCTP2	ORPHA:1596
HP:0011446	Abnormality of higher mental function	10484	SEC23A	ORPHA:50814
HP:0011446	Abnormality of higher mental function	55603	TENT5A	OMIM:617952
HP:0011446	Abnormality of higher mental function	26007	TKFC	OMIM:618805
HP:0011446	Abnormality of higher mental function	5257	PHKB	ORPHA:79240
HP:0011446	Abnormality of higher mental function	2464	FRA16E	OMIM:136570
HP:0011446	Abnormality of higher mental function	4848	CNOT2	OMIM:618608
HP:0011446	Abnormality of higher mental function	3020	H3-3A	OMIM:619720
HP:0011446	Abnormality of higher mental function	10134	BCAP31	ORPHA:369939
HP:0011446	Abnormality of higher mental function	80856	LNPK	OMIM:618090
HP:0011446	Abnormality of higher mental function	54862	CC2D1A	OMIM:608443
HP:0011446	Abnormality of higher mental function	1815	DRD4	OMIM:143465
HP:0011446	Abnormality of higher mental function	1816	DRD5	OMIM:143465
HP:0011446	Abnormality of higher mental function	23258	DENND5A	OMIM:617281
HP:0011446	Abnormality of higher mental function	84065	TMEM222	OMIM:619470
HP:0011446	Abnormality of higher mental function	10367	MICU1	OMIM:615673
HP:0011446	Abnormality of higher mental function	57477	SHROOM4	ORPHA:85288
HP:0011446	Abnormality of higher mental function	95	ACY1	OMIM:609924
HP:0011446	Abnormality of higher mental function	8506	CNTNAP1	OMIM:618186
HP:0011446	Abnormality of higher mental function	85476	GFM1	OMIM:609060
HP:0011446	Abnormality of higher mental function	80222	TARS2	OMIM:615918
HP:0011446	Abnormality of higher mental function	23287	AGTPBP1	OMIM:618276
HP:0011446	Abnormality of higher mental function	4718	NDUFC2	OMIM:619170
HP:0011446	Abnormality of higher mental function	8604	SLC25A12	OMIM:612949
HP:0011446	Abnormality of higher mental function	3658	IREB2	OMIM:618451
HP:0011446	Abnormality of higher mental function	401474	SAMD12	OMIM:601068
HP:0011446	Abnormality of higher mental function	401474	SAMD12	ORPHA:86814
HP:0011446	Abnormality of higher mental function	51569	UFM1	OMIM:617899
HP:0011446	Abnormality of higher mental function	1024	CDK8	OMIM:618748
HP:0011446	Abnormality of higher mental function	51099	ABHD5	OMIM:275630
HP:0011446	Abnormality of higher mental function	2668	GDNF	ORPHA:388
HP:0011446	Abnormality of higher mental function	1889	ECE1	ORPHA:388
HP:0011446	Abnormality of higher mental function	6720	SREBF1	ORPHA:388
HP:0011446	Abnormality of higher mental function	1908	EDN3	ORPHA:388
HP:0011446	Abnormality of higher mental function	223117	SEMA3D	ORPHA:388
HP:0011446	Abnormality of higher mental function	538	ATP7A	ORPHA:388
HP:0011446	Abnormality of higher mental function	538	ATP7A	ORPHA:565
HP:0011446	Abnormality of higher mental function	538	ATP7A	ORPHA:198
HP:0011446	Abnormality of higher mental function	538	ATP7A	OMIM:309400
HP:0011446	Abnormality of higher mental function	1910	EDNRB	ORPHA:388
HP:0011446	Abnormality of higher mental function	10512	SEMA3C	ORPHA:388
HP:0011446	Abnormality of higher mental function	2064	ERBB2	ORPHA:388
HP:0011446	Abnormality of higher mental function	2065	ERBB3	ORPHA:388
HP:0011446	Abnormality of higher mental function	4902	NRTN	ORPHA:388
HP:0011446	Abnormality of higher mental function	396	ARHGDIA	OMIM:615244
HP:0011446	Abnormality of higher mental function	283489	CHAMP1	OMIM:616579
HP:0011446	Abnormality of higher mental function	2348	FOLR1	OMIM:613068
HP:0011446	Abnormality of higher mental function	4867	NPHP1	ORPHA:220497
HP:0011446	Abnormality of higher mental function	4867	NPHP1	OMIM:266900
HP:0011446	Abnormality of higher mental function	4867	NPHP1	ORPHA:110
HP:0011446	Abnormality of higher mental function	65062	TMEM237	ORPHA:220497
HP:0011446	Abnormality of higher mental function	65062	TMEM237	ORPHA:2318
HP:0011446	Abnormality of higher mental function	65062	TMEM237	ORPHA:475
HP:0011446	Abnormality of higher mental function	2137	EXTL3	OMIM:617425
HP:0011446	Abnormality of higher mental function	2137	EXTL3	ORPHA:508533
HP:0011446	Abnormality of higher mental function	54806	AHI1	ORPHA:220493
HP:0011446	Abnormality of higher mental function	54806	AHI1	ORPHA:791
HP:0011446	Abnormality of higher mental function	54806	AHI1	ORPHA:475
HP:0011446	Abnormality of higher mental function	54806	AHI1	OMIM:608629
HP:0011446	Abnormality of higher mental function	153241	CEP120	ORPHA:220493
HP:0011446	Abnormality of higher mental function	153241	CEP120	ORPHA:475
HP:0011446	Abnormality of higher mental function	54903	MKS1	ORPHA:220493
HP:0011446	Abnormality of higher mental function	54903	MKS1	OMIM:615990
HP:0011446	Abnormality of higher mental function	54903	MKS1	ORPHA:110
HP:0011446	Abnormality of higher mental function	54903	MKS1	ORPHA:475
HP:0011446	Abnormality of higher mental function	54903	MKS1	OMIM:617121
HP:0011446	Abnormality of higher mental function	95681	CEP41	ORPHA:220493
HP:0011446	Abnormality of higher mental function	95681	CEP41	ORPHA:475
HP:0011446	Abnormality of higher mental function	95681	CEP41	OMIM:614464
HP:0011446	Abnormality of higher mental function	317662	FAM149B1	OMIM:618763
HP:0011446	Abnormality of higher mental function	317662	FAM149B1	ORPHA:2754
HP:0011446	Abnormality of higher mental function	79029	AFG2B	OMIM:619616
HP:0011446	Abnormality of higher mental function	79029	AFG2B	OMIM:619615
HP:0011446	Abnormality of higher mental function	10111	RAD50	OMIM:613078
HP:0011446	Abnormality of higher mental function	5191	PEX7	OMIM:215100
HP:0011446	Abnormality of higher mental function	5191	PEX7	OMIM:614879
HP:0011446	Abnormality of higher mental function	2697	GJA1	ORPHA:2710
HP:0011446	Abnormality of higher mental function	2697	GJA1	ORPHA:317
HP:0011446	Abnormality of higher mental function	2697	GJA1	OMIM:164200
HP:0011446	Abnormality of higher mental function	2697	GJA1	OMIM:218400
HP:0011446	Abnormality of higher mental function	4313	MMP2	ORPHA:371428
HP:0011446	Abnormality of higher mental function	4323	MMP14	ORPHA:371428
HP:0011446	Abnormality of higher mental function	59341	TRPV4	OMIM:113500
HP:0011446	Abnormality of higher mental function	59341	TRPV4	OMIM:168400
HP:0011446	Abnormality of higher mental function	59341	TRPV4	OMIM:184095
HP:0011446	Abnormality of higher mental function	4330	MN1	OMIM:618774
HP:0011446	Abnormality of higher mental function	5833	PCYT2	OMIM:618770
HP:0011446	Abnormality of higher mental function	1280	COL2A1	ORPHA:90653
HP:0011446	Abnormality of higher mental function	1280	COL2A1	OMIM:184250
HP:0011446	Abnormality of higher mental function	1280	COL2A1	ORPHA:85198
HP:0011446	Abnormality of higher mental function	8036	SHOC2	ORPHA:2701
HP:0011446	Abnormality of higher mental function	8036	SHOC2	OMIM:607721
HP:0011446	Abnormality of higher mental function	5500	PPP1CB	ORPHA:2701
HP:0011446	Abnormality of higher mental function	51761	ATP8A2	OMIM:615268
HP:0011446	Abnormality of higher mental function	51761	ATP8A2	ORPHA:1766
HP:0011446	Abnormality of higher mental function	89910	UBE3B	ORPHA:2707
HP:0011446	Abnormality of higher mental function	55131	RBM28	ORPHA:157954
HP:0011446	Abnormality of higher mental function	55131	RBM28	OMIM:612079
HP:0011446	Abnormality of higher mental function	1187	CLCNKA	OMIM:613090
HP:0011446	Abnormality of higher mental function	1188	CLCNKB	OMIM:613090
HP:0011446	Abnormality of higher mental function	5476	CTSA	ORPHA:351
HP:0011446	Abnormality of higher mental function	5476	CTSA	OMIM:256540
HP:0011446	Abnormality of higher mental function	8493	PPM1D	OMIM:617450
HP:0011446	Abnormality of higher mental function	23512	SUZ12	OMIM:618786
HP:0011446	Abnormality of higher mental function	23512	SUZ12	ORPHA:3447
HP:0011446	Abnormality of higher mental function	6905	TBCE	OMIM:241410
HP:0011446	Abnormality of higher mental function	6905	TBCE	ORPHA:2323
HP:0011446	Abnormality of higher mental function	6905	TBCE	OMIM:617207
HP:0011446	Abnormality of higher mental function	6905	TBCE	ORPHA:496756
HP:0011446	Abnormality of higher mental function	5604	MAP2K1	OMIM:615279
HP:0011446	Abnormality of higher mental function	5604	MAP2K1	ORPHA:1340
HP:0011446	Abnormality of higher mental function	5604	MAP2K1	OMIM:163950
HP:0011446	Abnormality of higher mental function	1311	COMP	OMIM:177170
HP:0011446	Abnormality of higher mental function	79718	TBL1XR1	OMIM:602342
HP:0011446	Abnormality of higher mental function	79718	TBL1XR1	OMIM:616944
HP:0011446	Abnormality of higher mental function	79718	TBL1XR1	ORPHA:487825
HP:0011446	Abnormality of higher mental function	3766	KCNJ10	ORPHA:199343
HP:0011446	Abnormality of higher mental function	3766	KCNJ10	OMIM:274600
HP:0011446	Abnormality of higher mental function	3766	KCNJ10	ORPHA:705
HP:0011446	Abnormality of higher mental function	3766	KCNJ10	OMIM:612780
HP:0011446	Abnormality of higher mental function	6305	SBF1	OMIM:615284
HP:0011446	Abnormality of higher mental function	1742	DLG4	OMIM:618793
HP:0011446	Abnormality of higher mental function	2904	GRIN2B	OMIM:616139
HP:0011446	Abnormality of higher mental function	2904	GRIN2B	OMIM:613970
HP:0011446	Abnormality of higher mental function	200424	TET3	OMIM:618798
HP:0011446	Abnormality of higher mental function	79971	WLS	OMIM:619648
HP:0011446	Abnormality of higher mental function	51567	TDP2	ORPHA:404493
HP:0011446	Abnormality of higher mental function	51567	TDP2	OMIM:616949
HP:0011446	Abnormality of higher mental function	57609	DIP2B	OMIM:136630
HP:0011446	Abnormality of higher mental function	6654	SOS1	OMIM:135300
HP:0011446	Abnormality of higher mental function	6654	SOS1	OMIM:610733
HP:0011446	Abnormality of higher mental function	8643	PTCH2	ORPHA:377
HP:0011446	Abnormality of higher mental function	23299	BICD2	OMIM:615290
HP:0011446	Abnormality of higher mental function	775	CACNA1C	OMIM:601005
HP:0011446	Abnormality of higher mental function	775	CACNA1C	OMIM:620029
HP:0011446	Abnormality of higher mental function	775	CACNA1C	OMIM:618447
HP:0011446	Abnormality of higher mental function	2239	GPC4	ORPHA:373
HP:0011446	Abnormality of higher mental function	2239	GPC4	OMIM:301026
HP:0011446	Abnormality of higher mental function	2719	GPC3	ORPHA:373
HP:0011446	Abnormality of higher mental function	84168	ANTXR1	OMIM:230740
HP:0011446	Abnormality of higher mental function	84100	ARL6	OMIM:600151
HP:0011446	Abnormality of higher mental function	84100	ARL6	ORPHA:791
HP:0011446	Abnormality of higher mental function	84100	ARL6	OMIM:209900
HP:0011446	Abnormality of higher mental function	84100	ARL6	ORPHA:110
HP:0011446	Abnormality of higher mental function	79648	MCPH1	OMIM:251200
HP:0011446	Abnormality of higher mental function	56246	MRAP	ORPHA:361
HP:0011446	Abnormality of higher mental function	6770	STAR	ORPHA:361
HP:0011446	Abnormality of higher mental function	4158	MC2R	ORPHA:361
HP:0011446	Abnormality of higher mental function	23530	NNT	ORPHA:361
HP:0011446	Abnormality of higher mental function	10587	TXNRD2	ORPHA:361
HP:0011446	Abnormality of higher mental function	1523	CUX1	OMIM:618330
HP:0011446	Abnormality of higher mental function	3000	GUCY2D	OMIM:204000
HP:0011446	Abnormality of higher mental function	3000	GUCY2D	ORPHA:65
HP:0011446	Abnormality of higher mental function	3480	IGF1R	ORPHA:73273
HP:0011446	Abnormality of higher mental function	3480	IGF1R	OMIM:270450
HP:0011446	Abnormality of higher mental function	92840	REEP6	ORPHA:791
HP:0011446	Abnormality of higher mental function	6094	ROM1	ORPHA:791
HP:0011446	Abnormality of higher mental function	6017	RLBP1	ORPHA:791
HP:0011446	Abnormality of higher mental function	7401	CLRN1	ORPHA:791
HP:0011446	Abnormality of higher mental function	24	ABCA4	ORPHA:791
HP:0011446	Abnormality of higher mental function	130557	ZNF513	ORPHA:791
HP:0011446	Abnormality of higher mental function	582	BBS1	ORPHA:791
HP:0011446	Abnormality of higher mental function	582	BBS1	OMIM:209900
HP:0011446	Abnormality of higher mental function	582	BBS1	ORPHA:110
HP:0011446	Abnormality of higher mental function	92211	CDHR1	ORPHA:791
HP:0011446	Abnormality of higher mental function	23568	ARL2BP	ORPHA:791
HP:0011446	Abnormality of higher mental function	6121	RPE65	ORPHA:791
HP:0011446	Abnormality of higher mental function	6121	RPE65	ORPHA:65
HP:0011446	Abnormality of higher mental function	6121	RPE65	OMIM:204100
HP:0011446	Abnormality of higher mental function	6101	RP1	ORPHA:791
HP:0011446	Abnormality of higher mental function	3419	IDH3A	ORPHA:791
HP:0011446	Abnormality of higher mental function	4751	NEK2	ORPHA:791
HP:0011446	Abnormality of higher mental function	346007	EYS	ORPHA:791
HP:0011446	Abnormality of higher mental function	8100	IFT88	ORPHA:791
HP:0011446	Abnormality of higher mental function	23020	SNRNP200	ORPHA:791
HP:0011446	Abnormality of higher mental function	762	CA4	ORPHA:791
HP:0011446	Abnormality of higher mental function	196	AHR	ORPHA:791
HP:0011446	Abnormality of higher mental function	3614	IMPDH1	ORPHA:791
HP:0011446	Abnormality of higher mental function	3614	IMPDH1	ORPHA:65
HP:0011446	Abnormality of higher mental function	123016	TTC8	ORPHA:791
HP:0011446	Abnormality of higher mental function	123016	TTC8	OMIM:615985
HP:0011446	Abnormality of higher mental function	123016	TTC8	ORPHA:110
HP:0011446	Abnormality of higher mental function	6103	RPGR	ORPHA:791
HP:0011446	Abnormality of higher mental function	1406	CRX	ORPHA:791
HP:0011446	Abnormality of higher mental function	1406	CRX	ORPHA:65
HP:0011446	Abnormality of higher mental function	5148	PDE6G	ORPHA:791
HP:0011446	Abnormality of higher mental function	26160	IFT172	ORPHA:791
HP:0011446	Abnormality of higher mental function	26160	IFT172	OMIM:615630
HP:0011446	Abnormality of higher mental function	26160	IFT172	ORPHA:110
HP:0011446	Abnormality of higher mental function	26121	PRPF31	ORPHA:791
HP:0011446	Abnormality of higher mental function	583	BBS2	ORPHA:791
HP:0011446	Abnormality of higher mental function	583	BBS2	OMIM:615981
HP:0011446	Abnormality of higher mental function	583	BBS2	ORPHA:110
HP:0011446	Abnormality of higher mental function	4117	MAK	ORPHA:791
HP:0011446	Abnormality of higher mental function	25794	FSCN2	ORPHA:791
HP:0011446	Abnormality of higher mental function	375298	CERKL	ORPHA:791
HP:0011446	Abnormality of higher mental function	3420	IDH3B	ORPHA:791
HP:0011446	Abnormality of higher mental function	57670	KIAA1549	ORPHA:791
HP:0011446	Abnormality of higher mental function	7275	TUB	ORPHA:791
HP:0011446	Abnormality of higher mental function	24148	PRPF6	ORPHA:791
HP:0011446	Abnormality of higher mental function	23418	CRB1	ORPHA:791
HP:0011446	Abnormality of higher mental function	23418	CRB1	ORPHA:65
HP:0011446	Abnormality of higher mental function	10461	MERTK	ORPHA:791
HP:0011446	Abnormality of higher mental function	57709	SLC7A14	ORPHA:791
HP:0011446	Abnormality of higher mental function	768206	PRCD	ORPHA:791
HP:0011446	Abnormality of higher mental function	7399	USH2A	ORPHA:791
HP:0011446	Abnormality of higher mental function	23370	ARHGEF18	ORPHA:791
HP:0011446	Abnormality of higher mental function	5949	RBP3	ORPHA:791
HP:0011446	Abnormality of higher mental function	6010	RHO	ORPHA:791
HP:0011446	Abnormality of higher mental function	6100	RP9	ORPHA:791
HP:0011446	Abnormality of higher mental function	10002	NR2E3	ORPHA:791
HP:0011446	Abnormality of higher mental function	9227	LRAT	ORPHA:791
HP:0011446	Abnormality of higher mental function	9227	LRAT	ORPHA:65
HP:0011446	Abnormality of higher mental function	84140	FAM161A	ORPHA:791
HP:0011446	Abnormality of higher mental function	55812	SPATA7	ORPHA:791
HP:0011446	Abnormality of higher mental function	55812	SPATA7	ORPHA:65
HP:0011446	Abnormality of higher mental function	403	ARL3	ORPHA:791
HP:0011446	Abnormality of higher mental function	403	ARL3	ORPHA:475
HP:0011446	Abnormality of higher mental function	5145	PDE6A	ORPHA:791
HP:0011446	Abnormality of higher mental function	10210	TOPORS	ORPHA:791
HP:0011446	Abnormality of higher mental function	10210	TOPORS	ORPHA:2754
HP:0011446	Abnormality of higher mental function	8842	PROM1	ORPHA:791
HP:0011446	Abnormality of higher mental function	9128	PRPF4	ORPHA:791
HP:0011446	Abnormality of higher mental function	145226	RDH12	ORPHA:791
HP:0011446	Abnormality of higher mental function	145226	RDH12	ORPHA:65
HP:0011446	Abnormality of higher mental function	50939	IMPG2	ORPHA:791
HP:0011446	Abnormality of higher mental function	8481	OFD1	ORPHA:791
HP:0011446	Abnormality of higher mental function	8481	OFD1	ORPHA:2750
HP:0011446	Abnormality of higher mental function	8481	OFD1	ORPHA:2754
HP:0011446	Abnormality of higher mental function	8481	OFD1	OMIM:300804
HP:0011446	Abnormality of higher mental function	8481	OFD1	OMIM:311200
HP:0011446	Abnormality of higher mental function	49855	SCAPER	ORPHA:791
HP:0011446	Abnormality of higher mental function	49855	SCAPER	OMIM:618195
HP:0011446	Abnormality of higher mental function	49855	SCAPER	ORPHA:110
HP:0011446	Abnormality of higher mental function	2979	GUCA1B	ORPHA:791
HP:0011446	Abnormality of higher mental function	1259	CNGA1	ORPHA:791
HP:0011446	Abnormality of higher mental function	1258	CNGB1	ORPHA:791
HP:0011446	Abnormality of higher mental function	60509	AGBL5	ORPHA:791
HP:0011446	Abnormality of higher mental function	5961	PRPH2	ORPHA:791
HP:0011446	Abnormality of higher mental function	388939	PCARE	ORPHA:791
HP:0011446	Abnormality of higher mental function	7439	BEST1	ORPHA:791
HP:0011446	Abnormality of higher mental function	9785	DHX38	ORPHA:791
HP:0011446	Abnormality of higher mental function	7287	TULP1	ORPHA:791
HP:0011446	Abnormality of higher mental function	7287	TULP1	ORPHA:65
HP:0011446	Abnormality of higher mental function	5995	RGR	ORPHA:791
HP:0011446	Abnormality of higher mental function	9129	PRPF3	ORPHA:791
HP:0011446	Abnormality of higher mental function	55975	KLHL7	ORPHA:791
HP:0011446	Abnormality of higher mental function	55975	KLHL7	OMIM:617055
HP:0011446	Abnormality of higher mental function	3617	IMPG1	ORPHA:791
HP:0011446	Abnormality of higher mental function	94137	RP1L1	ORPHA:791
HP:0011446	Abnormality of higher mental function	5158	PDE6B	ORPHA:791
HP:0011446	Abnormality of higher mental function	6102	RP2	ORPHA:791
HP:0011446	Abnormality of higher mental function	55857	KIZ	ORPHA:791
HP:0011446	Abnormality of higher mental function	64218	SEMA4A	ORPHA:791
HP:0011446	Abnormality of higher mental function	4901	NRL	ORPHA:791
HP:0011446	Abnormality of higher mental function	157657	CFAP418	ORPHA:791
HP:0011446	Abnormality of higher mental function	157657	CFAP418	ORPHA:110
HP:0011446	Abnormality of higher mental function	10594	PRPF8	ORPHA:791
HP:0011446	Abnormality of higher mental function	6295	SAG	ORPHA:791
HP:0011446	Abnormality of higher mental function	4598	MVK	ORPHA:29
HP:0011446	Abnormality of higher mental function	54517	PUS7	OMIM:618342
HP:0011446	Abnormality of higher mental function	10564	ARFGEF2	OMIM:608097
HP:0011446	Abnormality of higher mental function	57122	NUP107	OMIM:618348
HP:0011446	Abnormality of higher mental function	51259	TMEM216	OMIM:608091
HP:0011446	Abnormality of higher mental function	51259	TMEM216	ORPHA:2318
HP:0011446	Abnormality of higher mental function	51259	TMEM216	ORPHA:2754
HP:0011446	Abnormality of higher mental function	114327	EFHC1	ORPHA:307
HP:0011446	Abnormality of higher mental function	114327	EFHC1	OMIM:254770
HP:0011446	Abnormality of higher mental function	1181	CLCN2	ORPHA:307
HP:0011446	Abnormality of higher mental function	22858	CILK1	ORPHA:307
HP:0011446	Abnormality of higher mental function	8629	JRK	ORPHA:307
HP:0011446	Abnormality of higher mental function	8629	JRK	ORPHA:64280
HP:0011446	Abnormality of higher mental function	785	CACNB4	ORPHA:307
HP:0011446	Abnormality of higher mental function	785	CACNB4	OMIM:607682
HP:0011446	Abnormality of higher mental function	144165	PRICKLE1	ORPHA:308
HP:0011446	Abnormality of higher mental function	27125	AFF4	ORPHA:444077
HP:0011446	Abnormality of higher mental function	27125	AFF4	OMIM:616368
HP:0011446	Abnormality of higher mental function	10733	PLK4	OMIM:616171
HP:0011446	Abnormality of higher mental function	10733	PLK4	ORPHA:808
HP:0011446	Abnormality of higher mental function	10733	PLK4	ORPHA:2518
HP:0011446	Abnormality of higher mental function	5610	EIF2AK2	OMIM:619687
HP:0011446	Abnormality of higher mental function	55182	RNF220	OMIM:619688
HP:0011446	Abnormality of higher mental function	55262	TRAPPC14	OMIM:618351
HP:0011446	Abnormality of higher mental function	23043	TNIK	OMIM:617028
HP:0011446	Abnormality of higher mental function	51114	ZDHHC9	ORPHA:776
HP:0011446	Abnormality of higher mental function	51114	ZDHHC9	OMIM:300799
HP:0011446	Abnormality of higher mental function	6774	STAT3	ORPHA:99885
HP:0011446	Abnormality of higher mental function	2645	GCK	ORPHA:99885
HP:0011446	Abnormality of higher mental function	2645	GCK	OMIM:602485
HP:0011446	Abnormality of higher mental function	3651	PDX1	ORPHA:99885
HP:0011446	Abnormality of higher mental function	3630	INS	ORPHA:99885
HP:0011446	Abnormality of higher mental function	154881	KCTD7	OMIM:611726
HP:0011446	Abnormality of higher mental function	154881	KCTD7	ORPHA:263516
HP:0011446	Abnormality of higher mental function	22930	RAB3GAP1	OMIM:600118
HP:0011446	Abnormality of higher mental function	22930	RAB3GAP1	ORPHA:1387
HP:0011446	Abnormality of higher mental function	7468	NSD2	OMIM:619695
HP:0011446	Abnormality of higher mental function	3054	HCFC1	OMIM:309541
HP:0011446	Abnormality of higher mental function	2632	GBE1	ORPHA:206583
HP:0011446	Abnormality of higher mental function	7703	PCGF2	OMIM:618371
HP:0011446	Abnormality of higher mental function	2218	FKTN	ORPHA:370980
HP:0011446	Abnormality of higher mental function	2218	FKTN	OMIM:253800
HP:0011446	Abnormality of higher mental function	2218	FKTN	ORPHA:899
HP:0011446	Abnormality of higher mental function	729920	CRPPA	ORPHA:370980
HP:0011446	Abnormality of higher mental function	729920	CRPPA	ORPHA:899
HP:0011446	Abnormality of higher mental function	2707	GJB3	ORPHA:317
HP:0011446	Abnormality of higher mental function	2531	KDSR	ORPHA:317
HP:0011446	Abnormality of higher mental function	127534	GJB4	ORPHA:317
HP:0011446	Abnormality of higher mental function	50801	KCNK4	OMIM:618381
HP:0011446	Abnormality of higher mental function	80036	TRPM3	OMIM:620224
HP:0011446	Abnormality of higher mental function	5184	PEPD	ORPHA:742
HP:0011446	Abnormality of higher mental function	203068	TUBB	OMIM:156610
HP:0011446	Abnormality of higher mental function	203068	TUBB	ORPHA:2505
HP:0011446	Abnormality of higher mental function	5625	PRODH	OMIM:239500
HP:0011446	Abnormality of higher mental function	201595	STT3B	ORPHA:370924
HP:0011446	Abnormality of higher mental function	201595	STT3B	OMIM:615597
HP:0011446	Abnormality of higher mental function	6748	SSR4	ORPHA:370927
HP:0011446	Abnormality of higher mental function	6748	SSR4	OMIM:300934
HP:0011446	Abnormality of higher mental function	54187	NANS	OMIM:610442
HP:0011446	Abnormality of higher mental function	1282	COL4A1	OMIM:611773
HP:0011446	Abnormality of higher mental function	1282	COL4A1	OMIM:175780
HP:0011446	Abnormality of higher mental function	1282	COL4A1	ORPHA:899
HP:0011446	Abnormality of higher mental function	3643	INSR	ORPHA:769
HP:0011446	Abnormality of higher mental function	3643	INSR	ORPHA:508
HP:0011446	Abnormality of higher mental function	7474	WNT5A	OMIM:180700
HP:0011446	Abnormality of higher mental function	7474	WNT5A	ORPHA:3107
HP:0011446	Abnormality of higher mental function	1855	DVL1	OMIM:180700
HP:0011446	Abnormality of higher mental function	1855	DVL1	ORPHA:3107
HP:0011446	Abnormality of higher mental function	124093	CCDC78	OMIM:614807
HP:0011446	Abnormality of higher mental function	4860	PNP	ORPHA:760
HP:0011446	Abnormality of higher mental function	4860	PNP	OMIM:613179
HP:0011446	Abnormality of higher mental function	162	AP1B1	ORPHA:171851
HP:0011446	Abnormality of higher mental function	162	AP1B1	OMIM:242150
HP:0011446	Abnormality of higher mental function	1174	AP1S1	ORPHA:171851
HP:0011446	Abnormality of higher mental function	1174	AP1S1	OMIM:609313
HP:0011446	Abnormality of higher mental function	26123	TCTN3	OMIM:614815
HP:0011446	Abnormality of higher mental function	26123	TCTN3	ORPHA:2753
HP:0011446	Abnormality of higher mental function	26123	TCTN3	ORPHA:2754
HP:0011446	Abnormality of higher mental function	374654	KIF7	ORPHA:166024
HP:0011446	Abnormality of higher mental function	374654	KIF7	ORPHA:2754
HP:0011446	Abnormality of higher mental function	374654	KIF7	OMIM:200990
HP:0011446	Abnormality of higher mental function	128	ADH5	OMIM:619151
HP:0011446	Abnormality of higher mental function	64374	SIL1	OMIM:248800
HP:0011446	Abnormality of higher mental function	64374	SIL1	ORPHA:559
HP:0011446	Abnormality of higher mental function	26128	KIFBP	OMIM:609460
HP:0011446	Abnormality of higher mental function	26128	KIFBP	ORPHA:66629
HP:0011446	Abnormality of higher mental function	7518	XRCC4	ORPHA:99812
HP:0011446	Abnormality of higher mental function	3981	LIG4	ORPHA:99812
HP:0011446	Abnormality of higher mental function	3981	LIG4	ORPHA:235
HP:0011446	Abnormality of higher mental function	80144	FRAS1	OMIM:219000
HP:0011446	Abnormality of higher mental function	80144	FRAS1	ORPHA:2052
HP:0011446	Abnormality of higher mental function	9640	ZNF592	ORPHA:83472
HP:0011446	Abnormality of higher mental function	224	ALDH3A2	ORPHA:816
HP:0011446	Abnormality of higher mental function	224	ALDH3A2	OMIM:270200
HP:0011446	Abnormality of higher mental function	5818	NECTIN1	ORPHA:3253
HP:0011446	Abnormality of higher mental function	4758	NEU1	ORPHA:812
HP:0011446	Abnormality of higher mental function	4758	NEU1	OMIM:256550
HP:0011446	Abnormality of higher mental function	429	ASCL1	ORPHA:99803
HP:0011446	Abnormality of higher mental function	8929	PHOX2B	ORPHA:99803
HP:0011446	Abnormality of higher mental function	79631	EFL1	ORPHA:811
HP:0011446	Abnormality of higher mental function	2313	FLI1	ORPHA:851
HP:0011446	Abnormality of higher mental function	2313	FLI1	ORPHA:2308
HP:0011446	Abnormality of higher mental function	2483	FRG1	OMIM:158900
HP:0011446	Abnormality of higher mental function	1801	DPH1	OMIM:616901
HP:0011446	Abnormality of higher mental function	5080	PAX6	ORPHA:1065
HP:0011446	Abnormality of higher mental function	5080	PAX6	OMIM:194072
HP:0011446	Abnormality of higher mental function	5080	PAX6	ORPHA:893
HP:0011446	Abnormality of higher mental function	80254	CEP63	OMIM:614728
HP:0011446	Abnormality of higher mental function	672	BRCA1	ORPHA:84
HP:0011446	Abnormality of higher mental function	672	BRCA1	OMIM:617883
HP:0011446	Abnormality of higher mental function	10459	MAD2L2	ORPHA:84
HP:0011446	Abnormality of higher mental function	7516	XRCC2	ORPHA:84
HP:0011446	Abnormality of higher mental function	29089	UBE2T	ORPHA:84
HP:0011446	Abnormality of higher mental function	675	BRCA2	ORPHA:84
HP:0011446	Abnormality of higher mental function	55120	FANCL	ORPHA:84
HP:0011446	Abnormality of higher mental function	2177	FANCD2	ORPHA:84
HP:0011446	Abnormality of higher mental function	2177	FANCD2	OMIM:227646
HP:0011446	Abnormality of higher mental function	2175	FANCA	ORPHA:84
HP:0011446	Abnormality of higher mental function	2175	FANCA	OMIM:227650
HP:0011446	Abnormality of higher mental function	2187	FANCB	ORPHA:84
HP:0011446	Abnormality of higher mental function	2187	FANCB	OMIM:300514
HP:0011446	Abnormality of higher mental function	2187	FANCB	ORPHA:3412
HP:0011446	Abnormality of higher mental function	2176	FANCC	ORPHA:84
HP:0011446	Abnormality of higher mental function	2176	FANCC	OMIM:227645
HP:0011446	Abnormality of higher mental function	2178	FANCE	ORPHA:84
HP:0011446	Abnormality of higher mental function	2178	FANCE	OMIM:600901
HP:0011446	Abnormality of higher mental function	2188	FANCF	ORPHA:84
HP:0011446	Abnormality of higher mental function	2189	FANCG	ORPHA:84
HP:0011446	Abnormality of higher mental function	5889	RAD51C	ORPHA:84
HP:0011446	Abnormality of higher mental function	55159	RFWD3	ORPHA:84
HP:0011446	Abnormality of higher mental function	83990	BRIP1	ORPHA:84
HP:0011446	Abnormality of higher mental function	57697	FANCM	ORPHA:84
HP:0011446	Abnormality of higher mental function	79728	PALB2	ORPHA:84
HP:0011446	Abnormality of higher mental function	84464	SLX4	ORPHA:84
HP:0011446	Abnormality of higher mental function	55215	FANCI	ORPHA:84
HP:0011446	Abnormality of higher mental function	10555	AGPAT2	OMIM:608594
HP:0011446	Abnormality of higher mental function	10555	AGPAT2	ORPHA:528
HP:0011446	Abnormality of higher mental function	222663	SCUBE3	OMIM:619184
HP:0011446	Abnormality of higher mental function	9184	BUB3	ORPHA:1052
HP:0011446	Abnormality of higher mental function	699	BUB1	ORPHA:1052
HP:0011446	Abnormality of higher mental function	699	BUB1	OMIM:620183
HP:0011446	Abnormality of higher mental function	9319	TRIP13	ORPHA:1052
HP:0011446	Abnormality of higher mental function	701	BUB1B	ORPHA:1052
HP:0011446	Abnormality of higher mental function	23036	ZNF292	OMIM:619188
HP:0011446	Abnormality of higher mental function	55148	UBR7	OMIM:619189
HP:0011446	Abnormality of higher mental function	3070	HELLS	OMIM:616911
HP:0011446	Abnormality of higher mental function	3070	HELLS	ORPHA:2268
HP:0011446	Abnormality of higher mental function	83879	CDCA7	OMIM:616910
HP:0011446	Abnormality of higher mental function	83879	CDCA7	ORPHA:2268
HP:0011446	Abnormality of higher mental function	84947	SERAC1	OMIM:614739
HP:0011446	Abnormality of higher mental function	9653	HS2ST1	OMIM:619194
HP:0011446	Abnormality of higher mental function	3769	KCNJ13	ORPHA:65
HP:0011446	Abnormality of higher mental function	343035	RD3	ORPHA:65
HP:0011446	Abnormality of higher mental function	64802	NMNAT1	ORPHA:65
HP:0011446	Abnormality of higher mental function	57096	RPGRIP1	ORPHA:65
HP:0011446	Abnormality of higher mental function	80184	CEP290	ORPHA:65
HP:0011446	Abnormality of higher mental function	80184	CEP290	ORPHA:2318
HP:0011446	Abnormality of higher mental function	80184	CEP290	OMIM:615991
HP:0011446	Abnormality of higher mental function	80184	CEP290	ORPHA:110
HP:0011446	Abnormality of higher mental function	80184	CEP290	OMIM:610188
HP:0011446	Abnormality of higher mental function	10383	TUBB4B	ORPHA:65
HP:0011446	Abnormality of higher mental function	85015	USP45	ORPHA:65
HP:0011446	Abnormality of higher mental function	5130	PCYT1A	ORPHA:65
HP:0011446	Abnormality of higher mental function	5130	PCYT1A	ORPHA:85167
HP:0011446	Abnormality of higher mental function	9657	IQCB1	ORPHA:65
HP:0011446	Abnormality of higher mental function	392255	GDF6	ORPHA:65
HP:0011446	Abnormality of higher mental function	23746	AIPL1	ORPHA:65
HP:0011446	Abnormality of higher mental function	167691	LCA5	ORPHA:65
HP:0011446	Abnormality of higher mental function	7025	NR2F1	ORPHA:401777
HP:0011446	Abnormality of higher mental function	7025	NR2F1	OMIM:615722
HP:0011446	Abnormality of higher mental function	64327	LMBR1	ORPHA:2378
HP:0011446	Abnormality of higher mental function	5189	PEX1	ORPHA:3220
HP:0011446	Abnormality of higher mental function	5189	PEX1	OMIM:234580
HP:0011446	Abnormality of higher mental function	23345	SYNE1	ORPHA:319332
HP:0011446	Abnormality of higher mental function	23345	SYNE1	ORPHA:88644
HP:0011446	Abnormality of higher mental function	23345	SYNE1	ORPHA:98853
HP:0011446	Abnormality of higher mental function	6091	ROBO1	ORPHA:95496
HP:0011446	Abnormality of higher mental function	23432	GPR161	ORPHA:95496
HP:0011446	Abnormality of higher mental function	79759	ZNF668	OMIM:620194
HP:0011446	Abnormality of higher mental function	283209	PGM2L1	OMIM:620191
HP:0011446	Abnormality of higher mental function	8050	PDHX	OMIM:245349
HP:0011446	Abnormality of higher mental function	6473	SHOX	OMIM:249700
HP:0011446	Abnormality of higher mental function	23522	KAT6B	ORPHA:85201
HP:0011446	Abnormality of higher mental function	23522	KAT6B	ORPHA:3047
HP:0011446	Abnormality of higher mental function	158	ADSL	ORPHA:46
HP:0011446	Abnormality of higher mental function	158	ADSL	OMIM:103050
HP:0011446	Abnormality of higher mental function	1013	CDH15	OMIM:612580
HP:0011446	Abnormality of higher mental function	545	ATR	ORPHA:808
HP:0011446	Abnormality of higher mental function	545	ATR	OMIM:210600
HP:0011446	Abnormality of higher mental function	1062	CENPE	ORPHA:808
HP:0011446	Abnormality of higher mental function	5116	PCNT	ORPHA:808
HP:0011446	Abnormality of higher mental function	5116	PCNT	OMIM:210720
HP:0011446	Abnormality of higher mental function	5116	PCNT	ORPHA:2637
HP:0011446	Abnormality of higher mental function	5932	RBBP8	ORPHA:808
HP:0011446	Abnormality of higher mental function	5932	RBBP8	OMIM:251255
HP:0011446	Abnormality of higher mental function	79902	NUP85	ORPHA:808
HP:0011446	Abnormality of higher mental function	84126	ATRIP	ORPHA:808
HP:0011446	Abnormality of higher mental function	10293	TRAIP	ORPHA:808
HP:0011446	Abnormality of higher mental function	200403	VWA3B	OMIM:616948
HP:0011446	Abnormality of higher mental function	147372	CCBE1	OMIM:235510
HP:0011446	Abnormality of higher mental function	147372	CCBE1	ORPHA:2136
HP:0011446	Abnormality of higher mental function	2776	GNAQ	ORPHA:3205
HP:0011446	Abnormality of higher mental function	2776	GNAQ	ORPHA:624
HP:0011446	Abnormality of higher mental function	2776	GNAQ	OMIM:185300
HP:0011446	Abnormality of higher mental function	226	ALDOA	ORPHA:57
HP:0011446	Abnormality of higher mental function	226	ALDOA	OMIM:611881
HP:0011446	Abnormality of higher mental function	7407	VARS1	OMIM:617802
HP:0011446	Abnormality of higher mental function	9230	RAB11B	OMIM:617807
HP:0011446	Abnormality of higher mental function	79848	CSPP1	OMIM:615636
HP:0011446	Abnormality of higher mental function	79848	CSPP1	ORPHA:475
HP:0011446	Abnormality of higher mental function	8092	ALX1	OMIM:613456
HP:0011446	Abnormality of higher mental function	8092	ALX1	ORPHA:306542
HP:0011446	Abnormality of higher mental function	84162	BLTP1	OMIM:617822
HP:0011446	Abnormality of higher mental function	2782	GNB1	OMIM:616973
HP:0011446	Abnormality of higher mental function	2782	GNB1	ORPHA:488613
HP:0011446	Abnormality of higher mental function	5447	POR	OMIM:207410
HP:0011446	Abnormality of higher mental function	10413	YAP1	ORPHA:1473
HP:0011446	Abnormality of higher mental function	10413	YAP1	OMIM:120433
HP:0011446	Abnormality of higher mental function	7200	TRH	OMIM:275120
HP:0011446	Abnormality of higher mental function	2821	GPI	OMIM:613470
HP:0011446	Abnormality of higher mental function	134701	RIPPLY2	ORPHA:2311
HP:0011446	Abnormality of higher mental function	10683	DLL3	ORPHA:2311
HP:0011446	Abnormality of higher mental function	3955	LFNG	ORPHA:2311
HP:0011446	Abnormality of higher mental function	84667	HES7	ORPHA:2311
HP:0011446	Abnormality of higher mental function	145873	MESP2	ORPHA:2311
HP:0011446	Abnormality of higher mental function	6663	SOX10	ORPHA:163746
HP:0011446	Abnormality of higher mental function	6663	SOX10	OMIM:611584
HP:0011446	Abnormality of higher mental function	6663	SOX10	OMIM:609136
HP:0011446	Abnormality of higher mental function	2911	GRM1	ORPHA:324262
HP:0011446	Abnormality of higher mental function	2911	GRM1	OMIM:614831
HP:0011446	Abnormality of higher mental function	157570	ESCO2	ORPHA:2319
HP:0011446	Abnormality of higher mental function	157570	ESCO2	OMIM:268300
HP:0011446	Abnormality of higher mental function	157570	ESCO2	OMIM:216100
HP:0011446	Abnormality of higher mental function	157570	ESCO2	ORPHA:3103
HP:0011446	Abnormality of higher mental function	79583	TMEM231	ORPHA:2318
HP:0011446	Abnormality of higher mental function	51524	TMEM138	ORPHA:2318
HP:0011446	Abnormality of higher mental function	23090	ZNF423	ORPHA:2318
HP:0011446	Abnormality of higher mental function	197131	UBR1	ORPHA:2315
HP:0011446	Abnormality of higher mental function	197131	UBR1	OMIM:243800
HP:0011446	Abnormality of higher mental function	114548	NLRP3	ORPHA:1451
HP:0011446	Abnormality of higher mental function	760	CA2	ORPHA:2785
HP:0011446	Abnormality of higher mental function	760	CA2	OMIM:259730
HP:0011446	Abnormality of higher mental function	64840	PORCN	OMIM:305600
HP:0011446	Abnormality of higher mental function	55180	LINS1	OMIM:614340
HP:0011446	Abnormality of higher mental function	23040	MYT1L	OMIM:616521
HP:0011446	Abnormality of higher mental function	1130	LYST	ORPHA:352723
HP:0011446	Abnormality of higher mental function	1130	LYST	OMIM:214500
HP:0011446	Abnormality of higher mental function	1130	LYST	ORPHA:167
HP:0011446	Abnormality of higher mental function	1836	SLC26A2	OMIM:222600
HP:0011446	Abnormality of higher mental function	2893	GRIA4	OMIM:617864
HP:0011446	Abnormality of higher mental function	23204	ARL6IP1	OMIM:615685
HP:0011446	Abnormality of higher mental function	81562	LMAN2L	OMIM:617863
HP:0011446	Abnormality of higher mental function	271	AMPD2	OMIM:615686
HP:0011446	Abnormality of higher mental function	271	AMPD2	OMIM:615809
HP:0011446	Abnormality of higher mental function	60482	SLC5A7	ORPHA:98914
HP:0011446	Abnormality of higher mental function	60482	SLC5A7	OMIM:617143
HP:0011446	Abnormality of higher mental function	4649	MYO9A	ORPHA:98914
HP:0011446	Abnormality of higher mental function	1305	COL13A1	ORPHA:98914
HP:0011446	Abnormality of higher mental function	1103	CHAT	ORPHA:98914
HP:0011446	Abnormality of higher mental function	6576	SLC25A1	ORPHA:98914
HP:0011446	Abnormality of higher mental function	375790	AGRN	ORPHA:98914
HP:0011446	Abnormality of higher mental function	127833	SYT2	ORPHA:98914
HP:0011446	Abnormality of higher mental function	6572	SLC18A3	ORPHA:98914
HP:0011446	Abnormality of higher mental function	8292	COLQ	ORPHA:98915
HP:0011446	Abnormality of higher mental function	3913	LAMB2	ORPHA:98915
HP:0011446	Abnormality of higher mental function	9076	CLDN1	OMIM:607626
HP:0011446	Abnormality of higher mental function	4094	MAF	OMIM:601088
HP:0011446	Abnormality of higher mental function	4094	MAF	ORPHA:1272
HP:0011446	Abnormality of higher mental function	54802	TRIT1	OMIM:617873
HP:0011446	Abnormality of higher mental function	650	BMP2	OMIM:617877
HP:0011446	Abnormality of higher mental function	51317	PHF21A	OMIM:618725
HP:0011446	Abnormality of higher mental function	51317	PHF21A	ORPHA:52022
HP:0011446	Abnormality of higher mental function	55733	HHAT	ORPHA:1422
HP:0011446	Abnormality of higher mental function	387	RHOA	OMIM:618727
HP:0011446	Abnormality of higher mental function	8777	MPDZ	OMIM:615219
HP:0011446	Abnormality of higher mental function	7138	TNNT1	ORPHA:98902
HP:0011446	Abnormality of higher mental function	7138	TNNT1	OMIM:605355
HP:0011446	Abnormality of higher mental function	8086	AAAS	OMIM:231550
HP:0011446	Abnormality of higher mental function	124583	CANT1	ORPHA:1425
HP:0011446	Abnormality of higher mental function	124583	CANT1	OMIM:251450
HP:0011446	Abnormality of higher mental function	55790	CSGALNACT1	ORPHA:1425
HP:0011446	Abnormality of higher mental function	8139	GAN	OMIM:256850
HP:0011446	Abnormality of higher mental function	8139	GAN	ORPHA:643
HP:0011446	Abnormality of higher mental function	9851	KIAA0753	ORPHA:2754
HP:0011446	Abnormality of higher mental function	5147	PDE6D	ORPHA:2754
HP:0011446	Abnormality of higher mental function	65250	CPLANE1	ORPHA:2754
HP:0011446	Abnormality of higher mental function	65250	CPLANE1	OMIM:277170
HP:0011446	Abnormality of higher mental function	65250	CPLANE1	ORPHA:475
HP:0011446	Abnormality of higher mental function	5144	PDE4D	ORPHA:280651
HP:0011446	Abnormality of higher mental function	5144	PDE4D	OMIM:614613
HP:0011446	Abnormality of higher mental function	5144	PDE4D	ORPHA:439822
HP:0011446	Abnormality of higher mental function	5144	PDE4D	ORPHA:950
HP:0011446	Abnormality of higher mental function	2182	ACSL4	OMIM:300387
HP:0011446	Abnormality of higher mental function	83452	RAB33B	OMIM:615222
HP:0011446	Abnormality of higher mental function	8626	TP63	ORPHA:1896
HP:0011446	Abnormality of higher mental function	8626	TP63	OMIM:106260
HP:0011446	Abnormality of higher mental function	8626	TP63	OMIM:604292
HP:0011446	Abnormality of higher mental function	7545	ZIC1	OMIM:618736
HP:0011446	Abnormality of higher mental function	7545	ZIC1	ORPHA:35099
HP:0011446	Abnormality of higher mental function	51763	INPP5K	OMIM:617404
HP:0011446	Abnormality of higher mental function	51763	INPP5K	ORPHA:559
HP:0011446	Abnormality of higher mental function	109	ADCY3	OMIM:617885
HP:0011446	Abnormality of higher mental function	1460	CSNK2B	OMIM:618732
HP:0011446	Abnormality of higher mental function	8449	DHX16	OMIM:618733
HP:0011446	Abnormality of higher mental function	8294	H4C9	OMIM:619951
HP:0011446	Abnormality of higher mental function	9853	RUSC2	OMIM:617773
HP:0011446	Abnormality of higher mental function	3703	STT3A	OMIM:615596
HP:0011446	Abnormality of higher mental function	3703	STT3A	OMIM:619714
HP:0011446	Abnormality of higher mental function	3703	STT3A	ORPHA:370921
HP:0011446	Abnormality of higher mental function	1947	EFNB1	ORPHA:1520
HP:0011446	Abnormality of higher mental function	1947	EFNB1	OMIM:304110
HP:0011446	Abnormality of higher mental function	23417	MLYCD	OMIM:248360
HP:0011446	Abnormality of higher mental function	4047	LSS	ORPHA:2850
HP:0011446	Abnormality of higher mental function	4047	LSS	OMIM:618840
HP:0011446	Abnormality of higher mental function	197	AHSG	ORPHA:2850
HP:0011446	Abnormality of higher mental function	3694	ITGB6	ORPHA:2850
HP:0011446	Abnormality of higher mental function	5830	PEX5	OMIM:214110
HP:0011446	Abnormality of higher mental function	5830	PEX5	OMIM:202370
HP:0011446	Abnormality of higher mental function	2067	ERCC1	ORPHA:90322
HP:0011446	Abnormality of higher mental function	114803	MYSM1	ORPHA:508542
HP:0011446	Abnormality of higher mental function	6855	SYP	OMIM:300802
HP:0011446	Abnormality of higher mental function	51111	KMT5B	OMIM:617788
HP:0011446	Abnormality of higher mental function	55689	YEATS2	OMIM:615127
HP:0011446	Abnormality of higher mental function	55689	YEATS2	ORPHA:86814
HP:0011446	Abnormality of higher mental function	80155	NAA15	OMIM:617787
HP:0011446	Abnormality of higher mental function	129563	DIS3L2	ORPHA:2849
HP:0011446	Abnormality of higher mental function	3908	LAMA2	ORPHA:258
HP:0011446	Abnormality of higher mental function	3908	LAMA2	OMIM:607855
HP:0011446	Abnormality of higher mental function	50964	SOST	ORPHA:1513
HP:0011446	Abnormality of higher mental function	23474	ETHE1	ORPHA:51188
HP:0011446	Abnormality of higher mental function	23474	ETHE1	OMIM:602473
HP:0011446	Abnormality of higher mental function	1890	TYMP	ORPHA:298
HP:0011446	Abnormality of higher mental function	1890	TYMP	OMIM:603041
HP:0011446	Abnormality of higher mental function	8575	PRKRA	ORPHA:210571
HP:0011446	Abnormality of higher mental function	2937	GSS	OMIM:231900
HP:0011446	Abnormality of higher mental function	2937	GSS	OMIM:266130
HP:0011446	Abnormality of higher mental function	129685	TAF8	OMIM:619972
HP:0011446	Abnormality of higher mental function	10584	COLEC10	OMIM:248340
HP:0011446	Abnormality of higher mental function	10584	COLEC10	ORPHA:293843
HP:0011446	Abnormality of higher mental function	55109	AGGF1	ORPHA:90308
HP:0011446	Abnormality of higher mental function	64359	NXN	ORPHA:1507
HP:0011446	Abnormality of higher mental function	4920	ROR2	ORPHA:1507
HP:0011446	Abnormality of higher mental function	4920	ROR2	OMIM:268310
HP:0011446	Abnormality of higher mental function	5566	PRKACA	ORPHA:289
HP:0011446	Abnormality of higher mental function	5567	PRKACB	ORPHA:289
HP:0011446	Abnormality of higher mental function	2735	GLI1	ORPHA:289
HP:0011446	Abnormality of higher mental function	2121	EVC	ORPHA:289
HP:0011446	Abnormality of higher mental function	2121	EVC	OMIM:225500
HP:0011446	Abnormality of higher mental function	51626	DYNC2LI1	ORPHA:289
HP:0011446	Abnormality of higher mental function	132884	EVC2	ORPHA:289
HP:0011446	Abnormality of higher mental function	132884	EVC2	OMIM:225500
HP:0011446	Abnormality of higher mental function	22884	WDR37	OMIM:618652
HP:0011446	Abnormality of higher mental function	1656	DDX6	OMIM:618653
HP:0011446	Abnormality of higher mental function	3612	IMPA1	OMIM:617323
HP:0011446	Abnormality of higher mental function	55714	TENM3	OMIM:615145
HP:0011446	Abnormality of higher mental function	57178	ZMIZ1	OMIM:618659
HP:0011446	Abnormality of higher mental function	55623	THUMPD1	OMIM:619989
HP:0011446	Abnormality of higher mental function	3782	KCNN3	OMIM:618658
HP:0011446	Abnormality of higher mental function	3782	KCNN3	ORPHA:3473
HP:0011446	Abnormality of higher mental function	3476	IGBP1	ORPHA:52055
HP:0011446	Abnormality of higher mental function	3476	IGBP1	OMIM:300472
HP:0011446	Abnormality of higher mental function	56006	SMG9	OMIM:619995
HP:0011446	Abnormality of higher mental function	7862	BRPF1	OMIM:617333
HP:0011446	Abnormality of higher mental function	59335	PRDM12	OMIM:616488
HP:0011446	Abnormality of higher mental function	286	ANK1	ORPHA:251066
HP:0011446	Abnormality of higher mental function	4849	CNOT3	OMIM:618672
HP:0011446	Abnormality of higher mental function	153201	SLC36A2	OMIM:242600
HP:0011446	Abnormality of higher mental function	339855	KY	ORPHA:496689
HP:0011446	Abnormality of higher mental function	57479	PRR12	OMIM:619539
HP:0011446	Abnormality of higher mental function	2678	GGT1	OMIM:231950
HP:0011446	Abnormality of higher mental function	4052	LTBP1	ORPHA:90349
HP:0011446	Abnormality of higher mental function	30008	EFEMP2	ORPHA:90349
HP:0011446	Abnormality of higher mental function	10516	FBLN5	ORPHA:90349
HP:0011446	Abnormality of higher mental function	3930	LBR	OMIM:169400
HP:0011446	Abnormality of higher mental function	23189	KANK1	OMIM:612900
HP:0011446	Abnormality of higher mental function	1173	AP2M1	ORPHA:1942
HP:0011446	Abnormality of higher mental function	1173	AP2M1	OMIM:618587
HP:0011446	Abnormality of higher mental function	6529	SLC6A1	ORPHA:1942
HP:0011446	Abnormality of higher mental function	6529	SLC6A1	OMIM:616421
HP:0011446	Abnormality of higher mental function	148789	B3GALNT2	OMIM:615181
HP:0011446	Abnormality of higher mental function	148789	B3GALNT2	ORPHA:899
HP:0011446	Abnormality of higher mental function	8621	CDK13	OMIM:617360
HP:0011446	Abnormality of higher mental function	10456	HAX1	OMIM:610738
HP:0011446	Abnormality of higher mental function	3912	LAMB1	OMIM:615191
HP:0011446	Abnormality of higher mental function	55217	TMLHE	OMIM:300872
HP:0011446	Abnormality of higher mental function	30000	TNPO2	OMIM:619556
HP:0011446	Abnormality of higher mental function	79705	LRRK1	OMIM:615198
HP:0011446	Abnormality of higher mental function	57102	C12orf4	OMIM:618221
HP:0011446	Abnormality of higher mental function	359	AQP2	OMIM:125800
HP:0011446	Abnormality of higher mental function	81570	CLPB	ORPHA:445038
HP:0011446	Abnormality of higher mental function	81570	CLPB	OMIM:616271
HP:0011446	Abnormality of higher mental function	5745	PTH1R	OMIM:600002
HP:0011446	Abnormality of higher mental function	7555	CNBP	OMIM:602668
HP:0011446	Abnormality of higher mental function	4695	NDUFA2	OMIM:618235
HP:0011446	Abnormality of higher mental function	9342	SNAP29	ORPHA:66631
HP:0011446	Abnormality of higher mental function	79048	SECISBP2	ORPHA:171706
HP:0011446	Abnormality of higher mental function	1491	CTH	ORPHA:212
HP:0011446	Abnormality of higher mental function	1741	DLG3	OMIM:300850
HP:0011446	Abnormality of higher mental function	3192	HNRNPU	OMIM:617391
HP:0011446	Abnormality of higher mental function	164656	TMPRSS6	ORPHA:209981
HP:0011446	Abnormality of higher mental function	56915	EXOSC5	OMIM:619576
HP:0011446	Abnormality of higher mental function	9820	CUL7	OMIM:273750
HP:0011446	Abnormality of higher mental function	23203	PMPCA	OMIM:213200
HP:0011446	Abnormality of higher mental function	23203	PMPCA	ORPHA:1170
HP:0011446	Abnormality of higher mental function	22845	DOLK	OMIM:610768
HP:0011446	Abnormality of higher mental function	22845	DOLK	ORPHA:91131
HP:0011446	Abnormality of higher mental function	2299	FOXI1	OMIM:274600
HP:0011446	Abnormality of higher mental function	2299	FOXI1	ORPHA:705
HP:0011446	Abnormality of higher mental function	5172	SLC26A4	OMIM:274600
HP:0011446	Abnormality of higher mental function	5172	SLC26A4	ORPHA:705
HP:0011446	Abnormality of higher mental function	6898	TAT	ORPHA:28378
HP:0011446	Abnormality of higher mental function	6898	TAT	OMIM:276600
HP:0011446	Abnormality of higher mental function	10483	SEC23B	ORPHA:201
HP:0011446	Abnormality of higher mental function	205717	USF3	ORPHA:201
HP:0011446	Abnormality of higher mental function	100144748	KLLN	ORPHA:201
HP:0011446	Abnormality of higher mental function	80324	PUS1	OMIM:600462
HP:0011446	Abnormality of higher mental function	80324	PUS1	ORPHA:2598
HP:0011446	Abnormality of higher mental function	80173	IFT74	OMIM:619582
HP:0011446	Abnormality of higher mental function	80173	IFT74	ORPHA:110
HP:0011446	Abnormality of higher mental function	80173	IFT74	OMIM:617119
HP:0011446	Abnormality of higher mental function	2475	MTOR	ORPHA:457485
HP:0011446	Abnormality of higher mental function	2475	MTOR	OMIM:607341
HP:0011446	Abnormality of higher mental function	2475	MTOR	OMIM:616638
HP:0011446	Abnormality of higher mental function	6023	RMRP	OMIM:607095
HP:0011446	Abnormality of higher mental function	51715	RAB23	ORPHA:65759
HP:0011446	Abnormality of higher mental function	51715	RAB23	OMIM:201000
HP:0011446	Abnormality of higher mental function	1954	MEGF8	ORPHA:65759
HP:0011446	Abnormality of higher mental function	9244	CRLF1	OMIM:272430
HP:0011446	Abnormality of higher mental function	81620	CDT1	OMIM:613804
HP:0011446	Abnormality of higher mental function	81620	CDT1	ORPHA:2554
HP:0011446	Abnormality of higher mental function	79005	SCNM1	OMIM:620107
HP:0011446	Abnormality of higher mental function	4796	TONSL	OMIM:271510
HP:0011446	Abnormality of higher mental function	113189	CHST14	OMIM:601776
HP:0011446	Abnormality of higher mental function	22978	NT5C2	ORPHA:320396
HP:0011446	Abnormality of higher mental function	22978	NT5C2	OMIM:613162
HP:0011446	Abnormality of higher mental function	6566	SLC16A1	OMIM:616095
HP:0011446	Abnormality of higher mental function	22983	MAST1	OMIM:618273
HP:0011446	Abnormality of higher mental function	23031	MAST3	OMIM:620115
HP:0011446	Abnormality of higher mental function	8911	CACNA1I	OMIM:620114
HP:0011446	Abnormality of higher mental function	745	MYRF	OMIM:618280
HP:0011446	Abnormality of higher mental function	9895	TECPR2	ORPHA:320385
HP:0011446	Abnormality of higher mental function	9895	TECPR2	OMIM:615031
HP:0011446	Abnormality of higher mental function	57020	VPS35L	OMIM:619135
HP:0011446	Abnormality of higher mental function	3739	KCNA4	OMIM:618284
HP:0011446	Abnormality of higher mental function	383	ARG1	OMIM:207800
HP:0011446	Abnormality of higher mental function	23259	DDHD2	ORPHA:320380
HP:0011446	Abnormality of higher mental function	23259	DDHD2	OMIM:615033
HP:0011446	Abnormality of higher mental function	79644	SRD5A3	ORPHA:324737
HP:0011446	Abnormality of higher mental function	79644	SRD5A3	OMIM:612379
HP:0011446	Abnormality of higher mental function	27161	AGO2	OMIM:619149
HP:0011446	Abnormality of higher mental function	221692	PHACTR1	OMIM:618298
HP:0011446	Abnormality of higher mental function	8517	IKBKG	OMIM:308300
HP:0011446	Abnormality of higher mental function	8517	IKBKG	ORPHA:464
HP:0011446	Abnormality of higher mental function	2690	GHR	ORPHA:633
HP:0011446	Abnormality of higher mental function	11005	SPINK5	ORPHA:634
HP:0011446	Abnormality of higher mental function	3763	KCNJ6	ORPHA:435628
HP:0011446	Abnormality of higher mental function	341640	FREM2	ORPHA:2052
HP:0011446	Abnormality of higher mental function	23426	GRIP1	ORPHA:2052
HP:0011446	Abnormality of higher mental function	10262	SF3B4	OMIM:154400
HP:0011446	Abnormality of higher mental function	23556	PIGN	ORPHA:2059
HP:0011446	Abnormality of higher mental function	23556	PIGN	OMIM:614080
HP:0011446	Abnormality of higher mental function	145173	B3GLCT	ORPHA:709
HP:0011446	Abnormality of higher mental function	55325	UFSP2	OMIM:620028
HP:0011446	Abnormality of higher mental function	10274	STAG1	ORPHA:502434
HP:0011446	Abnormality of higher mental function	10274	STAG1	OMIM:617635
HP:0011446	Abnormality of higher mental function	4774	NFIA	OMIM:613735
HP:0011446	Abnormality of higher mental function	4774	NFIA	ORPHA:401986
HP:0011446	Abnormality of higher mental function	10992	SF3B2	OMIM:164210
HP:0011446	Abnormality of higher mental function	8496	PPFIBP1	OMIM:620024
HP:0011446	Abnormality of higher mental function	118987	PDZD8	OMIM:620021
HP:0011446	Abnormality of higher mental function	1299	COL9A3	OMIM:620022
HP:0011446	Abnormality of higher mental function	501	ALDH7A1	OMIM:266100
HP:0011446	Abnormality of higher mental function	501	ALDH7A1	ORPHA:3006
HP:0011446	Abnormality of higher mental function	51204	TACO1	OMIM:619052
HP:0011446	Abnormality of higher mental function	191	AHCY	OMIM:613752
HP:0011446	Abnormality of higher mental function	340024	SLC6A19	OMIM:234500
HP:0011446	Abnormality of higher mental function	340024	SLC6A19	ORPHA:2116
HP:0011446	Abnormality of higher mental function	84823	LMNB2	ORPHA:79087
HP:0011446	Abnormality of higher mental function	10000	AKT3	OMIM:615937
HP:0011446	Abnormality of higher mental function	10015	PDCD6IP	OMIM:620047
HP:0011446	Abnormality of higher mental function	84334	COA8	OMIM:619061
HP:0011446	Abnormality of higher mental function	84334	COA8	ORPHA:436271
HP:0011446	Abnormality of higher mental function	4212	MEIS2	OMIM:600987
HP:0011446	Abnormality of higher mental function	4212	MEIS2	ORPHA:261190
HP:0011446	Abnormality of higher mental function	5230	PGK1	ORPHA:713
HP:0011446	Abnormality of higher mental function	5230	PGK1	OMIM:300653
HP:0011446	Abnormality of higher mental function	3265	HRAS	OMIM:218040
HP:0011446	Abnormality of higher mental function	3265	HRAS	OMIM:163200
HP:0011446	Abnormality of higher mental function	3265	HRAS	ORPHA:2612
HP:0011446	Abnormality of higher mental function	3265	HRAS	ORPHA:3071
HP:0011446	Abnormality of higher mental function	7490	WT1	OMIM:194072
HP:0011446	Abnormality of higher mental function	7490	WT1	ORPHA:893
HP:0011446	Abnormality of higher mental function	5091	PC	OMIM:266150
HP:0011446	Abnormality of higher mental function	4035	LRP1	OMIM:604093
HP:0011446	Abnormality of higher mental function	81031	SLC2A10	ORPHA:3342
HP:0011446	Abnormality of higher mental function	81031	SLC2A10	OMIM:208050
HP:0011446	Abnormality of higher mental function	83475	DOHH	OMIM:620066
HP:0011446	Abnormality of higher mental function	92667	MGME1	ORPHA:352447
HP:0011446	Abnormality of higher mental function	92667	MGME1	OMIM:615084
HP:0011446	Abnormality of higher mental function	4089	SMAD4	OMIM:139210
HP:0011446	Abnormality of higher mental function	4089	SMAD4	ORPHA:2588
HP:0011446	Abnormality of higher mental function	255928	SYT14	ORPHA:284271
HP:0011446	Abnormality of higher mental function	554	AVPR2	OMIM:304800
HP:0011446	Abnormality of higher mental function	26227	PHGDH	OMIM:601815
HP:0011446	Abnormality of higher mental function	3187	HNRNPH1	OMIM:620083
HP:0011446	Abnormality of higher mental function	22880	MORC2	OMIM:619090
HP:0011446	Abnormality of higher mental function	22880	MORC2	ORPHA:466768
HP:0011446	Abnormality of higher mental function	11117	EMILIN1	OMIM:620080
HP:0011446	Abnormality of higher mental function	4677	NARS1	OMIM:619091
HP:0011446	Abnormality of higher mental function	4677	NARS1	OMIM:619092
HP:0011446	Abnormality of higher mental function	64220	STRA6	ORPHA:2470
HP:0011446	Abnormality of higher mental function	5915	RARB	ORPHA:2470
HP:0011446	Abnormality of higher mental function	5915	RARB	OMIM:615524
HP:0011446	Abnormality of higher mental function	7355	SLC35A2	OMIM:300896
HP:0011446	Abnormality of higher mental function	7355	SLC35A2	ORPHA:356961
HP:0011446	Abnormality of higher mental function	4488	MSX2	ORPHA:60015
HP:0011446	Abnormality of higher mental function	4488	MSX2	OMIM:604757
HP:0011446	Abnormality of higher mental function	9147	NEMF	OMIM:619099
HP:0011446	Abnormality of higher mental function	8195	MKKS	ORPHA:2473
HP:0011446	Abnormality of higher mental function	8195	MKKS	ORPHA:110
HP:0011446	Abnormality of higher mental function	8195	MKKS	OMIM:605231
HP:0011446	Abnormality of higher mental function	79791	FBXO31	OMIM:615979
HP:0011446	Abnormality of higher mental function	3954	LETM1	OMIM:620089
HP:0011446	Abnormality of higher mental function	51750	RTEL1	ORPHA:3322
HP:0011446	Abnormality of higher mental function	65057	ACD	ORPHA:3322
HP:0011446	Abnormality of higher mental function	5073	PARN	ORPHA:3322
HP:0011446	Abnormality of higher mental function	1736	DKC1	ORPHA:3322
HP:0011446	Abnormality of higher mental function	1736	DKC1	OMIM:305000
HP:0011446	Abnormality of higher mental function	84978	FRMD5	OMIM:620094
HP:0011446	Abnormality of higher mental function	54413	NLGN3	OMIM:300425
HP:0011446	Abnormality of higher mental function	10159	ATP6AP2	OMIM:300423
HP:0011446	Abnormality of higher mental function	10159	ATP6AP2	ORPHA:93952
HP:0011446	Abnormality of higher mental function	113612	CYP2U1	ORPHA:320411
HP:0011446	Abnormality of higher mental function	113612	CYP2U1	OMIM:615030
HP:0011446	Abnormality of higher mental function	55212	BBS7	OMIM:615984
HP:0011446	Abnormality of higher mental function	55212	BBS7	ORPHA:110
HP:0011446	Abnormality of higher mental function	585	BBS4	OMIM:615982
HP:0011446	Abnormality of higher mental function	585	BBS4	ORPHA:110
HP:0011446	Abnormality of higher mental function	51053	GMNN	OMIM:616835
HP:0011446	Abnormality of higher mental function	51053	GMNN	ORPHA:2554
HP:0011446	Abnormality of higher mental function	27241	BBS9	OMIM:615986
HP:0011446	Abnormality of higher mental function	27241	BBS9	ORPHA:110
HP:0011446	Abnormality of higher mental function	3720	JARID2	OMIM:620098
HP:0011446	Abnormality of higher mental function	6938	TCF12	ORPHA:35099
HP:0011446	Abnormality of higher mental function	6938	TCF12	OMIM:619718
HP:0011446	Abnormality of higher mental function	6683	SPAST	ORPHA:100985
HP:0011446	Abnormality of higher mental function	6683	SPAST	OMIM:182601
HP:0011446	Abnormality of higher mental function	5193	PEX12	OMIM:266510
HP:0011446	Abnormality of higher mental function	92482	BBIP1	OMIM:615995
HP:0011446	Abnormality of higher mental function	92482	BBIP1	ORPHA:110
HP:0011446	Abnormality of higher mental function	11020	IFT27	OMIM:615996
HP:0011446	Abnormality of higher mental function	11020	IFT27	ORPHA:110
HP:0011446	Abnormality of higher mental function	29926	GMPPA	OMIM:615510
HP:0011446	Abnormality of higher mental function	54585	LZTFL1	OMIM:615994
HP:0011446	Abnormality of higher mental function	54585	LZTFL1	ORPHA:110
HP:0011446	Abnormality of higher mental function	411	ARSB	OMIM:253200
HP:0011446	Abnormality of higher mental function	57511	COG6	ORPHA:363523
HP:0011446	Abnormality of higher mental function	57511	COG6	OMIM:614576
HP:0011446	Abnormality of higher mental function	57511	COG6	OMIM:615328
HP:0011446	Abnormality of higher mental function	91179	SCARF2	OMIM:600920
HP:0011446	Abnormality of higher mental function	80207	OPA3	ORPHA:67047
HP:0011446	Abnormality of higher mental function	3920	LAMP2	ORPHA:34587
HP:0011446	Abnormality of higher mental function	3920	LAMP2	OMIM:300257
HP:0011446	Abnormality of higher mental function	10265	IRX5	OMIM:611174
HP:0011446	Abnormality of higher mental function	10841	FTCD	OMIM:229100
HP:0011446	Abnormality of higher mental function	5925	RB1	ORPHA:1587
HP:0011446	Abnormality of higher mental function	29940	DSE	OMIM:615539
HP:0011446	Abnormality of higher mental function	3758	KCNJ1	OMIM:241200
HP:0011446	Abnormality of higher mental function	547	KIF1A	OMIM:614213
HP:0011446	Abnormality of higher mental function	547	KIF1A	OMIM:614255
HP:0011446	Abnormality of higher mental function	23065	EMC1	OMIM:616875
HP:0011446	Abnormality of higher mental function	8884	SLC5A6	OMIM:619903
HP:0011446	Abnormality of higher mental function	128989	TANGO2	OMIM:616878
HP:0011446	Abnormality of higher mental function	128989	TANGO2	ORPHA:480864
HP:0011446	Abnormality of higher mental function	55644	OSGEP	OMIM:617729
HP:0011446	Abnormality of higher mental function	4644	MYO5A	ORPHA:79476
HP:0011446	Abnormality of higher mental function	4644	MYO5A	ORPHA:33445
HP:0011446	Abnormality of higher mental function	4644	MYO5A	OMIM:214450
HP:0011446	Abnormality of higher mental function	7074	TIAM1	OMIM:619908
HP:0011446	Abnormality of higher mental function	8200	GDF5	OMIM:200700
HP:0011446	Abnormality of higher mental function	340075	ARSI	ORPHA:401815
HP:0011446	Abnormality of higher mental function	112858	TP53RK	OMIM:617730
HP:0011446	Abnormality of higher mental function	23233	EXOC6B	ORPHA:93359
HP:0011446	Abnormality of higher mental function	126792	B3GALT6	ORPHA:93359
HP:0011446	Abnormality of higher mental function	51002	TPRKB	OMIM:617731
HP:0011446	Abnormality of higher mental function	490	ATP2B1	OMIM:619910
HP:0011446	Abnormality of higher mental function	5293	PIK3CD	ORPHA:221139
HP:0011446	Abnormality of higher mental function	90417	KNSTRN	ORPHA:221139
HP:0011446	Abnormality of higher mental function	54805	CNNM2	OMIM:616418
HP:0011446	Abnormality of higher mental function	6591	SNAI2	ORPHA:2884
HP:0011446	Abnormality of higher mental function	3815	KIT	ORPHA:2884
HP:0011446	Abnormality of higher mental function	8241	RBM10	ORPHA:2886
HP:0011446	Abnormality of higher mental function	9320	TRIP12	OMIM:617752
HP:0011446	Abnormality of higher mental function	1663	DDX11	OMIM:613398
HP:0011446	Abnormality of higher mental function	3034	HAL	OMIM:235800
HP:0011446	Abnormality of higher mental function	10082	GPC6	ORPHA:93329
HP:0011446	Abnormality of higher mental function	406932	MIR140	OMIM:618618
HP:0011446	Abnormality of higher mental function	776	CACNA1D	OMIM:615474
HP:0011446	Abnormality of higher mental function	91801	ALKBH8	OMIM:618504
HP:0011446	Abnormality of higher mental function	23498	HAAO	OMIM:617660
HP:0011446	Abnormality of higher mental function	24137	KIF4A	OMIM:300923
HP:0011446	Abnormality of higher mental function	64412	GZF1	OMIM:617662
HP:0011446	Abnormality of higher mental function	1841	DTYMK	OMIM:619847
HP:0011446	Abnormality of higher mental function	3149	HMGB3	OMIM:300915
HP:0011446	Abnormality of higher mental function	55636	CHD7	ORPHA:138
HP:0011446	Abnormality of higher mental function	55636	CHD7	OMIM:214800
HP:0011446	Abnormality of higher mental function	9723	SEMA3E	ORPHA:138
HP:0011446	Abnormality of higher mental function	64834	ELOVL1	OMIM:618527
HP:0011446	Abnormality of higher mental function	79140	CCDC28B	OMIM:209900
HP:0011446	Abnormality of higher mental function	23347	SMCHD1	OMIM:603457
HP:0011446	Abnormality of higher mental function	10087	CERT1	OMIM:616351
HP:0011446	Abnormality of higher mental function	57231	SNX14	OMIM:616354
HP:0011446	Abnormality of higher mental function	23327	NEDD4L	OMIM:617201
HP:0011446	Abnormality of higher mental function	10716	TBR1	ORPHA:1617
HP:0011446	Abnormality of higher mental function	51057	WDPCP	ORPHA:110
HP:0011446	Abnormality of higher mental function	84984	CEP19	ORPHA:110
HP:0011446	Abnormality of higher mental function	84984	CEP19	OMIM:615703
HP:0011446	Abnormality of higher mental function	22954	TRIM32	ORPHA:110
HP:0011446	Abnormality of higher mental function	166379	BBS12	ORPHA:110
HP:0011446	Abnormality of higher mental function	129880	BBS5	ORPHA:110
HP:0011446	Abnormality of higher mental function	8558	CDK10	OMIM:617694
HP:0011446	Abnormality of higher mental function	51692	CPSF3	OMIM:619876
HP:0011446	Abnormality of higher mental function	3098	HK1	OMIM:618547
HP:0011446	Abnormality of higher mental function	285362	SUMF1	ORPHA:585
HP:0011446	Abnormality of higher mental function	285362	SUMF1	OMIM:272200
HP:0011446	Abnormality of higher mental function	9276	COPB2	OMIM:619884
HP:0011446	Abnormality of higher mental function	83479	DDX59	ORPHA:2919
HP:0011446	Abnormality of higher mental function	83479	DDX59	OMIM:174300
HP:0011446	Abnormality of higher mental function	56098	PCDHGC4	OMIM:619880
HP:0011446	Abnormality of higher mental function	1749	DLX5	OMIM:183600
HP:0011446	Abnormality of higher mental function	64919	BCL11B	OMIM:617237
HP:0011446	Abnormality of higher mental function	64919	BCL11B	OMIM:618092
HP:0011446	Abnormality of higher mental function	84295	PHF6	ORPHA:127
HP:0011446	Abnormality of higher mental function	617	BCS1L	ORPHA:123
HP:0011446	Abnormality of higher mental function	617	BCS1L	OMIM:262000
HP:0011446	Abnormality of higher mental function	617	BCS1L	OMIM:124000
HP:0011446	Abnormality of higher mental function	404672	GTF2H5	OMIM:616395
HP:0011446	Abnormality of higher mental function	7227	TRPS1	OMIM:190350
HP:0011446	Abnormality of higher mental function	7227	TRPS1	OMIM:190351
HP:0011446	Abnormality of higher mental function	7227	TRPS1	ORPHA:502
HP:0011446	Abnormality of higher mental function	7046	TGFBR1	OMIM:609192
HP:0011446	Abnormality of higher mental function	1642	DDB1	OMIM:619426
HP:0011446	Abnormality of higher mental function	389827	MYMK	OMIM:254940
HP:0011446	Abnormality of higher mental function	389827	MYMK	ORPHA:1358
HP:0011446	Abnormality of higher mental function	4126	MANBA	ORPHA:118
HP:0011446	Abnormality of higher mental function	4126	MANBA	OMIM:248510
HP:0011446	Abnormality of higher mental function	9949	AMMECR1	OMIM:300990
HP:0011446	Abnormality of higher mental function	9361	LONP1	OMIM:600373
HP:0011446	Abnormality of higher mental function	1291	COL6A1	OMIM:254090
HP:0011446	Abnormality of higher mental function	1292	COL6A2	OMIM:254090
HP:0011446	Abnormality of higher mental function	1293	COL6A3	OMIM:254090
HP:0011446	Abnormality of higher mental function	160418	TMTC3	OMIM:617255
HP:0011446	Abnormality of higher mental function	8473	OGT	OMIM:300997
HP:0011446	Abnormality of higher mental function	5309	PITX3	OMIM:610623
HP:0011446	Abnormality of higher mental function	6299	SALL1	OMIM:107480
HP:0011446	Abnormality of higher mental function	6299	SALL1	ORPHA:857
HP:0011446	Abnormality of higher mental function	10300	KATNB1	ORPHA:89844
HP:0011446	Abnormality of higher mental function	55249	YY1AP1	OMIM:602531
HP:0011446	Abnormality of higher mental function	147409	DSG4	ORPHA:573
HP:0011446	Abnormality of higher mental function	3892	KRT86	ORPHA:573
HP:0011446	Abnormality of higher mental function	3889	KRT83	ORPHA:573
HP:0011446	Abnormality of higher mental function	3887	KRT81	ORPHA:573
HP:0011446	Abnormality of higher mental function	3039	HBA1	ORPHA:98791
HP:0011446	Abnormality of higher mental function	3040	HBA2	ORPHA:98791
HP:0011446	Abnormality of higher mental function	27341	RRP7A	OMIM:619453
HP:0011446	Abnormality of higher mental function	3376	IARS1	ORPHA:541423
HP:0011446	Abnormality of higher mental function	3376	IARS1	OMIM:617093
HP:0011446	Abnormality of higher mental function	5077	PAX3	OMIM:148820
HP:0011446	Abnormality of higher mental function	5077	PAX3	ORPHA:896
HP:0011446	Abnormality of higher mental function	80311	KLHL15	OMIM:300982
HP:0011446	Abnormality of higher mental function	6557	SLC12A1	OMIM:601678
HP:0011446	Abnormality of higher mental function	7809	BSND	OMIM:602522
HP:0011446	Abnormality of higher mental function	84892	POMGNT2	OMIM:618135
HP:0011446	Abnormality of higher mental function	84892	POMGNT2	ORPHA:899
HP:0011446	Abnormality of higher mental function	9758	FRMPD4	OMIM:300983
HP:0011446	Abnormality of higher mental function	389856	USP27X	OMIM:300984
HP:0011446	Abnormality of higher mental function	4548	MTR	OMIM:250940
HP:0011446	Abnormality of higher mental function	57498	KIDINS220	OMIM:617296
HP:0011446	Abnormality of higher mental function	57498	KIDINS220	ORPHA:521390
HP:0011446	Abnormality of higher mental function	4625	MYH7	ORPHA:437572
HP:0011446	Abnormality of higher mental function	10526	IPO8	OMIM:619472
HP:0011446	Abnormality of higher mental function	55651	NHP2	OMIM:224230
HP:0011446	Abnormality of higher mental function	55651	NHP2	OMIM:613987
HP:0011446	Abnormality of higher mental function	55505	NOP10	OMIM:224230
HP:0011446	Abnormality of higher mental function	2317	FLNB	ORPHA:503
HP:0011446	Abnormality of higher mental function	2317	FLNB	OMIM:150250
HP:0011446	Abnormality of higher mental function	2131	EXT1	ORPHA:502
HP:0011446	Abnormality of higher mental function	136647	MPLKIP	OMIM:234050
HP:0011446	Abnormality of higher mental function	374879	ZNF699	OMIM:619488
HP:0011446	Abnormality of higher mental function	8567	MADD	OMIM:619005
HP:0011446	Abnormality of higher mental function	9373	PLAA	ORPHA:521426
HP:0011446	Abnormality of higher mental function	9373	PLAA	OMIM:617527
HP:0011446	Abnormality of higher mental function	1654	DDX3X	OMIM:300958
HP:0011446	Abnormality of higher mental function	1654	DDX3X	ORPHA:457260
HP:0011446	Abnormality of higher mental function	4851	NOTCH1	ORPHA:974
HP:0011446	Abnormality of higher mental function	57514	ARHGAP31	ORPHA:974
HP:0011446	Abnormality of higher mental function	57514	ARHGAP31	OMIM:100300
HP:0011446	Abnormality of higher mental function	57572	DOCK6	ORPHA:974
HP:0011446	Abnormality of higher mental function	285203	EOGT	ORPHA:974
HP:0011446	Abnormality of higher mental function	54567	DLL4	ORPHA:974
HP:0011446	Abnormality of higher mental function	407975	MIR17HG	ORPHA:391646
HP:0011446	Abnormality of higher mental function	26278	SACS	OMIM:270550
HP:0011446	Abnormality of higher mental function	80267	EDEM3	OMIM:619493
HP:0011446	Abnormality of higher mental function	10491	CRTAP	OMIM:610682
HP:0011446	Abnormality of higher mental function	203190	LGI3	OMIM:620007
HP:0011446	Abnormality of higher mental function	5468	PPARG	ORPHA:528
HP:0011446	Abnormality of higher mental function	284119	CAVIN1	ORPHA:528
HP:0011446	Abnormality of higher mental function	2353	FOS	ORPHA:528
HP:0011446	Abnormality of higher mental function	857	CAV1	ORPHA:528
HP:0011446	Abnormality of higher mental function	9897	WASHC5	ORPHA:7
HP:0011446	Abnormality of higher mental function	114034	TOE1	ORPHA:284339
HP:0011446	Abnormality of higher mental function	114034	TOE1	OMIM:614969
HP:0011446	Abnormality of higher mental function	9562	MINPP1	ORPHA:284339
HP:0011446	Abnormality of higher mental function	84842	HPDL	OMIM:619026
HP:0011446	Abnormality of higher mental function	79023	NUP37	OMIM:618179
HP:0011446	Abnormality of higher mental function	118429	ANTXR2	OMIM:228600
HP:0011446	Abnormality of higher mental function	55294	FBXW7	OMIM:620012
HP:0011446	Abnormality of higher mental function	23241	PACS2	OMIM:618067
HP:0011446	Abnormality of higher mental function	57539	WDR35	OMIM:613610
HP:0011446	Abnormality of higher mental function	51506	UFC1	OMIM:618076
HP:0011446	Abnormality of higher mental function	63916	ELMO2	ORPHA:3019
HP:0011446	Abnormality of higher mental function	1763	DNA2	OMIM:615807
HP:0011446	Abnormality of higher mental function	8913	CACNA1G	OMIM:618087
HP:0011446	Abnormality of higher mental function	3953	LEPR	OMIM:614963
HP:0011446	Abnormality of higher mental function	57531	HACE1	ORPHA:464282
HP:0011446	Abnormality of higher mental function	57531	HACE1	OMIM:616756
HP:0011446	Abnormality of higher mental function	633	BGN	OMIM:300106
HP:0011446	Abnormality of higher mental function	113235	SLC46A1	OMIM:229050
HP:0011446	Abnormality of higher mental function	4036	LRP2	ORPHA:2143
HP:0011446	Abnormality of higher mental function	3756	KCNH1	ORPHA:3473
HP:0011446	Abnormality of higher mental function	9508	ADAMTS3	ORPHA:2136
HP:0011446	Abnormality of higher mental function	54499	TMCO1	OMIM:213980
HP:0011446	Abnormality of higher mental function	54499	TMCO1	ORPHA:1394
HP:0011446	Abnormality of higher mental function	8242	KDM5C	OMIM:300534
HP:0011446	Abnormality of higher mental function	57393	CLTRN	ORPHA:2116
HP:0011446	Abnormality of higher mental function	55275	VPS53	OMIM:615851
HP:0011446	Abnormality of higher mental function	440193	CCDC88C	OMIM:236600
HP:0011446	Abnormality of higher mental function	7048	TGFBR2	OMIM:610168
HP:0011446	Abnormality of higher mental function	8726	EED	ORPHA:3447
HP:0011446	Abnormality of higher mental function	8726	EED	OMIM:617561
HP:0011446	Abnormality of higher mental function	79228	THOC6	OMIM:613680
HP:0011446	Abnormality of higher mental function	51134	CEP83	OMIM:615862
HP:0011446	Abnormality of higher mental function	8216	LZTR1	OMIM:605275
HP:0011446	Abnormality of higher mental function	4976	OPA1	OMIM:210000
HP:0011446	Abnormality of higher mental function	54704	PDP1	OMIM:608782
HP:0011446	Abnormality of higher mental function	8600	TNFSF11	OMIM:259710
HP:0011446	Abnormality of higher mental function	59	ACTA2	ORPHA:2573
HP:0011446	Abnormality of higher mental function	57674	RNF213	ORPHA:2573
HP:0011446	Abnormality of higher mental function	55593	OTUD5	OMIM:301056
HP:0011446	Abnormality of higher mental function	1822	ATN1	OMIM:125370
HP:0011446	Abnormality of higher mental function	1822	ATN1	OMIM:618494
HP:0011446	Abnormality of higher mental function	54101	RIPK4	ORPHA:1234
HP:0011446	Abnormality of higher mental function	10982	MAPRE2	OMIM:616734
HP:0011446	Abnormality of higher mental function	10982	MAPRE2	ORPHA:2505
HP:0011446	Abnormality of higher mental function	3176	HNMT	OMIM:616739
HP:0011446	Abnormality of higher mental function	4131	MAP1B	OMIM:618918
HP:0011446	Abnormality of higher mental function	1778	DYNC1H1	OMIM:614563
HP:0011446	Abnormality of higher mental function	5000	ORC4	ORPHA:2554
HP:0011446	Abnormality of higher mental function	23594	ORC6	ORPHA:2554
HP:0011446	Abnormality of higher mental function	8318	CDC45	ORPHA:2554
HP:0011446	Abnormality of higher mental function	990	CDC6	ORPHA:2554
HP:0011446	Abnormality of higher mental function	55764	IFT122	OMIM:218330
HP:0011446	Abnormality of higher mental function	2304	FOXE1	ORPHA:1226
HP:0011446	Abnormality of higher mental function	84061	MAGT1	OMIM:301031
HP:0011446	Abnormality of higher mental function	10943	MSL3	OMIM:301032
HP:0011446	Abnormality of higher mental function	56479	KCNQ5	OMIM:617601
HP:0011446	Abnormality of higher mental function	9343	EFTUD2	ORPHA:79113
HP:0011446	Abnormality of higher mental function	157680	VPS13B	ORPHA:193
HP:0011446	Abnormality of higher mental function	157680	VPS13B	OMIM:216550
HP:0011446	Abnormality of higher mental function	8270	LAGE3	OMIM:301006
HP:0011446	Abnormality of higher mental function	2517	FUCA1	OMIM:230000
HP:0011446	Abnormality of higher mental function	117581	TWIST2	OMIM:209885
HP:0011446	Abnormality of higher mental function	80781	COL18A1	OMIM:267750
HP:0011446	Abnormality of higher mental function	63932	STEEP1	OMIM:301013
HP:0011446	Abnormality of higher mental function	56910	STARD7	OMIM:607876
HP:0011446	Abnormality of higher mental function	26503	SLC17A5	OMIM:604369
HP:0011446	Abnormality of higher mental function	1718	DHCR24	ORPHA:35107
HP:0011446	Abnormality of higher mental function	114928	GPRASP2	OMIM:301018
HP:0011446	Abnormality of higher mental function	92335	STRADA	OMIM:611087
HP:0011446	Abnormality of higher mental function	80210	ARMC9	OMIM:617622
HP:0011446	Abnormality of higher mental function	80210	ARMC9	ORPHA:475
HP:0011446	Abnormality of higher mental function	259266	ASPM	OMIM:608716
HP:0011446	Abnormality of higher mental function	6487	ST3GAL3	OMIM:611090
HP:0011446	Abnormality of higher mental function	7991	TUSC3	OMIM:611093
HP:0011446	Abnormality of higher mental function	6651	SON	ORPHA:500150
HP:0011446	Abnormality of higher mental function	6651	SON	OMIM:617140
HP:0011446	Abnormality of higher mental function	85378	TUBGCP6	ORPHA:2518
HP:0011446	Abnormality of higher mental function	85378	TUBGCP6	OMIM:251270
HP:0011446	Abnormality of higher mental function	27229	TUBGCP4	ORPHA:2518
HP:0011446	Abnormality of higher mental function	9939	RBM8A	OMIM:274000
HP:0011446	Abnormality of higher mental function	9451	EIF2AK3	ORPHA:1667
HP:0011446	Abnormality of higher mental function	55553	SOX6	OMIM:618971
HP:0011446	Abnormality of higher mental function	1804	DPP6	OMIM:616311
HP:0011446	Abnormality of higher mental function	8942	KYNU	ORPHA:79155
HP:0011446	Abnormality of higher mental function	1281	COL3A1	ORPHA:2500
HP:0011446	Abnormality of higher mental function	64682	ANAPC1	ORPHA:221008
HP:0011446	Abnormality of higher mental function	8912	CACNA1H	ORPHA:64280
HP:0011446	Abnormality of higher mental function	104	ADARB1	OMIM:618862
HP:0011446	Abnormality of higher mental function	9524	TECR	OMIM:614020
HP:0011446	Abnormality of higher mental function	2895	GRID2	OMIM:616204
HP:0011446	Abnormality of higher mental function	6016	RIT1	OMIM:615355
HP:0011446	Abnormality of higher mental function	3008	H1-4	OMIM:617537
HP:0011446	Abnormality of higher mental function	3891	KRT85	OMIM:602032
HP:0011446	Abnormality of higher mental function	347733	TUBB2B	ORPHA:1766
HP:0011446	Abnormality of higher mental function	347733	TUBB2B	ORPHA:300573
HP:0011446	Abnormality of higher mental function	347733	TUBB2B	OMIM:610031
HP:0011446	Abnormality of higher mental function	124997	WDR81	ORPHA:1766
HP:0011446	Abnormality of higher mental function	387119	CEP85L	OMIM:618873
HP:0011446	Abnormality of higher mental function	83696	TRAPPC9	OMIM:613192
HP:0011446	Abnormality of higher mental function	9469	CHST3	OMIM:143095
HP:0011446	Abnormality of higher mental function	9692	PRORP	OMIM:619737
HP:0011446	Abnormality of higher mental function	4853	NOTCH2	OMIM:102500
HP:0011446	Abnormality of higher mental function	51319	RSRC1	OMIM:618402
HP:0011446	Abnormality of higher mental function	7920	ABHD16A	OMIM:619735
HP:0011446	Abnormality of higher mental function	23761	PISD	OMIM:618889
HP:0011446	Abnormality of higher mental function	5442	POLRMT	OMIM:619743
HP:0011446	Abnormality of higher mental function	514	ATP5F1E	OMIM:614053
HP:0011446	Abnormality of higher mental function	84314	TMEM107	OMIM:617562
HP:0011446	Abnormality of higher mental function	64132	XYLT2	ORPHA:85194
HP:0011446	Abnormality of higher mental function	79600	TCTN1	ORPHA:475
HP:0011446	Abnormality of higher mental function	200894	ARL13B	ORPHA:475
HP:0011446	Abnormality of higher mental function	200894	ARL13B	OMIM:612291
HP:0011446	Abnormality of higher mental function	219844	HYLS1	ORPHA:475
HP:0011446	Abnormality of higher mental function	23247	KATNIP	ORPHA:475
HP:0011446	Abnormality of higher mental function	219854	TMEM218	ORPHA:475
HP:0011446	Abnormality of higher mental function	9786	KIAA0586	ORPHA:475
HP:0011446	Abnormality of higher mental function	79867	TCTN2	ORPHA:475
HP:0011446	Abnormality of higher mental function	80776	B9D2	ORPHA:475
HP:0011446	Abnormality of higher mental function	10464	PIBF1	ORPHA:475
HP:0011446	Abnormality of higher mental function	23116	TOGARAM1	ORPHA:475
HP:0011446	Abnormality of higher mental function	25776	CBY1	ORPHA:475
HP:0011446	Abnormality of higher mental function	27077	B9D1	ORPHA:475
HP:0011446	Abnormality of higher mental function	27077	B9D1	OMIM:617120
HP:0011446	Abnormality of higher mental function	1789	DNMT3B	OMIM:242860
HP:0011446	Abnormality of higher mental function	1789	DNMT3B	ORPHA:2268
HP:0011446	Abnormality of higher mental function	51604	PIGT	OMIM:615398
HP:0011446	Abnormality of higher mental function	84504	NKX6-2	ORPHA:527497
HP:0011446	Abnormality of higher mental function	8363	H4C11	OMIM:619759
HP:0011446	Abnormality of higher mental function	9841	ZBTB24	OMIM:614069
HP:0011446	Abnormality of higher mental function	9841	ZBTB24	ORPHA:2268
HP:0011446	Abnormality of higher mental function	7701	ZNF142	OMIM:618425
HP:0011446	Abnormality of higher mental function	8364	H4C3	OMIM:619758
HP:0011446	Abnormality of higher mental function	145258	GSC	OMIM:602471
HP:0011446	Abnormality of higher mental function	85365	ALG2	ORPHA:79326
HP:0011446	Abnormality of higher mental function	8314	BAP1	OMIM:619762
HP:0011446	Abnormality of higher mental function	59336	PRDM13	OMIM:619761
HP:0011446	Abnormality of higher mental function	9993	DGCR2	OMIM:192430
HP:0011446	Abnormality of higher mental function	8220	ESS2	OMIM:192430
HP:0011446	Abnormality of higher mental function	8214	DGCR6	OMIM:192430
HP:0011446	Abnormality of higher mental function	54487	DGCR8	OMIM:192430
HP:0011446	Abnormality of higher mental function	11261	CHP1	OMIM:618438
HP:0011446	Abnormality of higher mental function	51341	ZBTB7A	OMIM:619769
HP:0011446	Abnormality of higher mental function	2729	GCLC	ORPHA:33574
HP:0011446	Abnormality of higher mental function	9338	TCEAL1	OMIM:301094
HP:0011446	Abnormality of higher mental function	2556	GABRA3	OMIM:301091
HP:0011446	Abnormality of higher mental function	5373	PMM2	ORPHA:79318
HP:0011446	Abnormality of higher mental function	4351	MPI	ORPHA:79319
HP:0011446	Abnormality of higher mental function	23162	MAPK8IP3	OMIM:618443
HP:0011446	Abnormality of higher mental function	3978	LIG1	OMIM:619774
HP:0011446	Abnormality of higher mental function	4123	MAN2C1	OMIM:619775
HP:0011446	Abnormality of higher mental function	54941	RNF125	OMIM:616260
HP:0011446	Abnormality of higher mental function	23219	FBXO28	OMIM:619777
HP:0011446	Abnormality of higher mental function	257	ALX3	OMIM:136760
HP:0011446	Abnormality of higher mental function	79882	ZC3H14	OMIM:617125
HP:0011446	Abnormality of higher mental function	5062	PAK2	OMIM:618458
HP:0011446	Abnormality of higher mental function	84706	GPT2	OMIM:616281
HP:0011446	Abnormality of higher mental function	84706	GPT2	ORPHA:477673
HP:0011446	Abnormality of higher mental function	5898	RALA	OMIM:619311
HP:0011446	Abnormality of higher mental function	203547	VMA21	OMIM:310440
HP:0011446	Abnormality of higher mental function	4143	MAT1A	OMIM:250850
HP:0011446	Abnormality of higher mental function	10978	CLP1	ORPHA:411493
HP:0011446	Abnormality of higher mental function	23030	KDM4B	OMIM:619320
HP:0011446	Abnormality of higher mental function	1363	CPE	OMIM:619326
HP:0011446	Abnormality of higher mental function	10329	RXYLT1	ORPHA:899
HP:0011446	Abnormality of higher mental function	11041	B4GAT1	ORPHA:899
HP:0011446	Abnormality of higher mental function	28982	FLVCR1	ORPHA:88628
HP:0011446	Abnormality of higher mental function	28982	FLVCR1	OMIM:609033
HP:0011446	Abnormality of higher mental function	4621	MYH3	OMIM:193700
HP:0011446	Abnormality of higher mental function	2530	FUT8	OMIM:618005
HP:0011446	Abnormality of higher mental function	1108	CHD4	OMIM:617159
HP:0011446	Abnormality of higher mental function	4000	LMNA	OMIM:212112
HP:0011446	Abnormality of higher mental function	4000	LMNA	ORPHA:98855
HP:0011446	Abnormality of higher mental function	4000	LMNA	ORPHA:98853
HP:0011446	Abnormality of higher mental function	5903	RANBP2	ORPHA:88619
HP:0011446	Abnormality of higher mental function	372	ARCN1	OMIM:617164
HP:0011446	Abnormality of higher mental function	3977	LIFR	OMIM:601559
HP:0011446	Abnormality of higher mental function	2628	GATM	OMIM:612718
HP:0011446	Abnormality of higher mental function	4882	NPR2	OMIM:602875
HP:0011446	Abnormality of higher mental function	10681	GNB5	OMIM:617173
HP:0011446	Abnormality of higher mental function	10681	GNB5	OMIM:617182
HP:0011446	Abnormality of higher mental function	26005	C2CD3	ORPHA:434179
HP:0011446	Abnormality of higher mental function	440138	ALG11	ORPHA:280071
HP:0011446	Abnormality of higher mental function	79143	MBOAT7	OMIM:617188
HP:0011446	Abnormality of higher mental function	498	ATP5F1A	OMIM:620358
HP:0011446	Abnormality of higher mental function	51339	DACT1	ORPHA:857
HP:0011446	Abnormality of higher mental function	627	BDNF	ORPHA:893
HP:0011446	Abnormality of higher mental function	55252	ASXL2	OMIM:617190
HP:0011446	Abnormality of higher mental function	23154	NCDN	OMIM:619373
HP:0011446	Abnormality of higher mental function	10295	BCKDK	OMIM:614923
HP:0011446	Abnormality of higher mental function	55074	OXR1	OMIM:213000
HP:0011446	Abnormality of higher mental function	11011	TLK2	OMIM:618050
HP:0011446	Abnormality of higher mental function	27072	VPS41	OMIM:619389
HP:0011446	Abnormality of higher mental function	221927	BRAT1	OMIM:618056
HP:0011446	Abnormality of higher mental function	11113	CIT	OMIM:617090
HP:0011446	Abnormality of higher mental function	23118	TAB2	ORPHA:228410
HP:0011446	Abnormality of higher mental function	8443	GNPAT	OMIM:222765
HP:0011446	Abnormality of higher mental function	9442	MED27	OMIM:619286
HP:0011446	Abnormality of higher mental function	1146	CHRNG	OMIM:265000
HP:0011446	Abnormality of higher mental function	7102	TSPAN7	OMIM:300210
HP:0011446	Abnormality of higher mental function	3899	AFF3	OMIM:619297
HP:0011446	Abnormality of higher mental function	649	BMP1	OMIM:614856
HP:0011446	Abnormality of higher mental function	1727	CYB5R3	OMIM:250800
HP:0011446	Abnormality of higher mental function	197257	LDHD	OMIM:245450
HP:0011446	Abnormality of higher mental function	1857	DVL3	ORPHA:3107
HP:0011446	Abnormality of higher mental function	2535	FZD2	ORPHA:3107
HP:0011446	Abnormality of higher mental function	540	ATP7B	ORPHA:905
HP:0011446	Abnormality of higher mental function	2627	GATA6	ORPHA:2255
HP:0011446	Abnormality of higher mental function	6804	STX1A	ORPHA:904
HP:0011446	Abnormality of higher mental function	7461	CLIP2	ORPHA:904
HP:0011446	Abnormality of higher mental function	84277	DNAJC30	ORPHA:904
HP:0011446	Abnormality of higher mental function	8468	FKBP6	ORPHA:904
HP:0011446	Abnormality of higher mental function	5982	RFC2	ORPHA:904
HP:0011446	Abnormality of higher mental function	2969	GTF2I	ORPHA:904
HP:0011446	Abnormality of higher mental function	3984	LIMK1	ORPHA:904
HP:0011446	Abnormality of higher mental function	9569	GTF2IRD1	ORPHA:904
HP:0011446	Abnormality of higher mental function	155382	VPS37D	ORPHA:904
HP:0011446	Abnormality of higher mental function	155368	METTL27	ORPHA:904
HP:0011446	Abnormality of higher mental function	114049	BUD23	ORPHA:904
HP:0011446	Abnormality of higher mental function	7458	EIF4H	ORPHA:904
HP:0011446	Abnormality of higher mental function	84163	GTF2IRD2	ORPHA:904
HP:0011446	Abnormality of higher mental function	9275	BCL7B	ORPHA:904
HP:0011446	Abnormality of higher mental function	26608	TBL2	ORPHA:904
HP:0011446	Abnormality of higher mental function	653361	NCF1	ORPHA:904
HP:0011446	Abnormality of higher mental function	135886	TMEM270	ORPHA:904
HP:0011446	Abnormality of higher mental function	9031	BAZ1B	ORPHA:904
HP:0011446	Abnormality of higher mental function	6329	SCN4A	ORPHA:99735
HP:0011446	Abnormality of higher mental function	78989	COLEC11	OMIM:265050
HP:0011446	Abnormality of higher mental function	78989	COLEC11	ORPHA:293843
HP:0011446	Abnormality of higher mental function	728294	D2HGDH	OMIM:600721
HP:0011446	Abnormality of higher mental function	6628	SNRPB	ORPHA:1393
HP:0011446	Abnormality of higher mental function	6628	SNRPB	OMIM:117650
HP:0011446	Abnormality of higher mental function	2548	GAA	ORPHA:308552
HP:0011446	Abnormality of higher mental function	9409	PEX16	OMIM:614877
HP:0011446	Abnormality of higher mental function	5295	PIK3R1	OMIM:269880
HP:0011446	Abnormality of higher mental function	63901	FAM111A	OMIM:127000
HP:0011446	Abnormality of higher mental function	1487	CTBP1	OMIM:617915
HP:0011446	Abnormality of higher mental function	2273	FHL1	ORPHA:98863
HP:0011446	Abnormality of higher mental function	2273	FHL1	OMIM:300280
HP:0011446	Abnormality of higher mental function	2010	EMD	ORPHA:98863
HP:0011446	Abnormality of higher mental function	57094	CPA6	OMIM:614417
HP:0011446	Abnormality of higher mental function	79188	TMEM43	ORPHA:98853
HP:0011446	Abnormality of higher mental function	23224	SYNE2	ORPHA:98853
HP:0011446	Abnormality of higher mental function	6309	SC5D	OMIM:607330
HP:0011446	Abnormality of higher mental function	9698	PUM1	OMIM:617931
HP:0011446	Abnormality of higher mental function	101929726	MYMX	ORPHA:1358
HP:0011446	Abnormality of higher mental function	8671	SLC4A4	OMIM:604278
HP:0011446	Abnormality of higher mental function	9512	PMPCB	OMIM:617954
HP:0011446	Abnormality of higher mental function	5605	MAP2K2	ORPHA:1340
HP:0011446	Abnormality of higher mental function	3549	IHH	OMIM:607778
HP:0011446	Abnormality of higher mental function	338917	VSX2	OMIM:610093
HP:0011446	Abnormality of higher mental function	54658	UGT1A1	ORPHA:79234
HP:0011446	Abnormality of higher mental function	51128	SAR1B	OMIM:246700
HP:0011446	Abnormality of higher mental function	6505	SLC1A1	OMIM:222730
HP:0011446	Abnormality of higher mental function	57468	SLC12A5	OMIM:616645
HP:0011446	Abnormality of higher mental function	2588	GALNS	OMIM:253000
HP:0011446	Abnormality of higher mental function	4337	MOCS1	OMIM:252150
HP:0011446	Abnormality of higher mental function	151	ADRA2B	ORPHA:86814
HP:0011446	Abnormality of higher mental function	1501	CTNND2	ORPHA:86814
HP:0011446	Abnormality of higher mental function	10299	MARCHF6	ORPHA:86814
HP:0011446	Abnormality of higher mental function	6900	CNTN2	ORPHA:86814
HP:0011446	Abnormality of higher mental function	51305	KCNK9	OMIM:612292
HP:0011446	Abnormality of higher mental function	54870	QRICH1	OMIM:617982
HP:0011446	Abnormality of higher mental function	54676	GTPBP2	OMIM:617988
HP:0011446	Abnormality of higher mental function	51780	KDM3B	OMIM:618846
HP:0011446	Abnormality of higher mental function	10312	TCIRG1	ORPHA:1782
HP:0011446	Abnormality of higher mental function	8792	TNFRSF11A	ORPHA:1782
HP:0011446	Abnormality of higher mental function	63929	XPNPEP3	OMIM:613159
HP:0011446	Abnormality of higher mental function	10225	CD96	ORPHA:1308
HP:0011446	Abnormality of higher mental function	9130	FAM50A	OMIM:300261
HP:0011446	Abnormality of higher mental function	10083	USH1C	ORPHA:231169
HP:0011446	Abnormality of higher mental function	124590	USH1G	ORPHA:231169
HP:0011446	Abnormality of higher mental function	83715	ESPN	ORPHA:231169
HP:0011446	Abnormality of higher mental function	10518	CIB2	ORPHA:231169
HP:0011446	Abnormality of higher mental function	4647	MYO7A	ORPHA:231169
HP:0011446	Abnormality of higher mental function	65217	PCDH15	ORPHA:231169
HP:0011446	Abnormality of higher mental function	51733	UPB1	OMIM:613161
HP:0011446	Abnormality of higher mental function	8738	CRADD	OMIM:614499
HP:0011446	Abnormality of higher mental function	4858	NOVA2	OMIM:618859
HP:0011446	Abnormality of higher mental function	9181	ARHGEF2	OMIM:617523
HP:0011446	Abnormality of higher mental function	2582	GALE	OMIM:230350
HP:0011446	Abnormality of higher mental function	1374	CPT1A	ORPHA:156
HP:0011446	Abnormality of higher mental function	1374	CPT1A	OMIM:255120
HP:0011446	Abnormality of higher mental function	4594	MMUT	ORPHA:289916
HP:0011446	Abnormality of higher mental function	4594	MMUT	ORPHA:79312
HP:0011446	Abnormality of higher mental function	4594	MMUT	OMIM:251000
HP:0011446	Abnormality of higher mental function	51103	NDUFAF1	ORPHA:2609
HP:0011446	Abnormality of higher mental function	91942	NDUFAF2	ORPHA:2609
HP:0011446	Abnormality of higher mental function	51300	TIMMDC1	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4716	NDUFB10	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4723	NDUFV1	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4723	NDUFV1	OMIM:618225
HP:0011446	Abnormality of higher mental function	284184	NDUFAF8	ORPHA:2609
HP:0011446	Abnormality of higher mental function	55863	TMEM126B	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4537	MT-ND3	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4729	NDUFV2	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4724	NDUFS4	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4724	NDUFS4	OMIM:252010
HP:0011446	Abnormality of higher mental function	4726	NDUFS6	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4726	NDUFS6	OMIM:618232
HP:0011446	Abnormality of higher mental function	4728	NDUFS8	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4722	NDUFS3	ORPHA:2609
HP:0011446	Abnormality of higher mental function	79133	NDUFAF5	ORPHA:2609
HP:0011446	Abnormality of higher mental function	126328	NDUFA11	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4709	NDUFB3	ORPHA:2609
HP:0011446	Abnormality of higher mental function	29078	NDUFAF4	ORPHA:2609
HP:0011446	Abnormality of higher mental function	374291	NDUFS7	ORPHA:2609
HP:0011446	Abnormality of higher mental function	374291	NDUFS7	OMIM:618224
HP:0011446	Abnormality of higher mental function	4536	MT-ND2	ORPHA:2609
HP:0011446	Abnormality of higher mental function	4715	NDUFB9	ORPHA:2609
HP:0011446	Abnormality of higher mental function	229	ALDOB	OMIM:229600
HP:0011446	Abnormality of higher mental function	229	ALDOB	ORPHA:469
HP:0011446	Abnormality of higher mental function	5009	OTC	OMIM:311250
HP:0011446	Abnormality of higher mental function	54820	NDE1	ORPHA:2177
HP:0011446	Abnormality of higher mental function	148738	HJV	OMIM:602390
HP:0011446	Abnormality of higher mental function	148738	HJV	ORPHA:79230
HP:0011446	Abnormality of higher mental function	4552	MTRR	OMIM:236270
HP:0011446	Abnormality of higher mental function	4552	MTRR	ORPHA:2169
HP:0011446	Abnormality of higher mental function	7849	PAX8	OMIM:218700
HP:0011446	Abnormality of higher mental function	1376	CPT2	OMIM:600649
HP:0011446	Abnormality of higher mental function	1376	CPT2	OMIM:608836
HP:0011446	Abnormality of higher mental function	55788	LMBRD1	OMIM:277380
HP:0011446	Abnormality of higher mental function	55788	LMBRD1	ORPHA:79284
HP:0011446	Abnormality of higher mental function	3141	HLCS	OMIM:253270
HP:0011446	Abnormality of higher mental function	3141	HLCS	ORPHA:79242
HP:0011446	Abnormality of higher mental function	7252	TSHB	ORPHA:90674
HP:0011446	Abnormality of higher mental function	1738	DLD	ORPHA:2394
HP:0011446	Abnormality of higher mental function	1738	DLD	OMIM:246900
HP:0011446	Abnormality of higher mental function	686	BTD	OMIM:253260
HP:0011446	Abnormality of higher mental function	686	BTD	ORPHA:79241
HP:0011446	Abnormality of higher mental function	36	ACADSB	OMIM:610006
HP:0011446	Abnormality of higher mental function	64087	MCCC2	OMIM:210210
HP:0011446	Abnormality of higher mental function	79087	ALG12	OMIM:607143
HP:0011446	Abnormality of higher mental function	5095	PCCA	OMIM:606054
HP:0011446	Abnormality of higher mental function	5096	PCCB	OMIM:606054
HP:0011446	Abnormality of higher mental function	9377	COX5A	OMIM:619064
HP:0011446	Abnormality of higher mental function	388962	BOLA3	OMIM:614299
HP:0011446	Abnormality of higher mental function	55065	SLC52A1	OMIM:615026
HP:0011446	Abnormality of higher mental function	1591	CYP24A1	OMIM:143880
HP:0011446	Abnormality of higher mental function	51021	MRPS16	OMIM:610498
HP:0011446	Abnormality of higher mental function	56922	MCCC1	OMIM:210200
HP:0011446	Abnormality of higher mental function	5826	ABCD4	OMIM:614857
HP:0011446	Abnormality of higher mental function	788	SLC25A20	ORPHA:159
HP:0011446	Abnormality of higher mental function	788	SLC25A20	OMIM:212138
HP:0011446	Abnormality of higher mental function	9056	SLC7A7	ORPHA:470
HP:0011446	Abnormality of higher mental function	51594	NBAS	OMIM:616483
HP:0011446	Abnormality of higher mental function	6521	SLC4A1	OMIM:611590
HP:0011446	Abnormality of higher mental function	1629	DBT	OMIM:248600
HP:0011446	Abnormality of higher mental function	593	BCKDHA	OMIM:248600
HP:0011446	Abnormality of higher mental function	594	BCKDHB	OMIM:248600
HP:0011446	Abnormality of higher mental function	5626	PROP1	ORPHA:226307
HP:0011446	Abnormality of higher mental function	89884	LHX4	ORPHA:226307
HP:0011446	Abnormality of higher mental function	8022	LHX3	ORPHA:226307
HP:0011446	Abnormality of higher mental function	5449	POU1F1	ORPHA:226307
HP:0011446	Abnormality of higher mental function	4519	MT-CYB	ORPHA:137675
HP:0011446	Abnormality of higher mental function	5828	PEX2	OMIM:614866
HP:0011446	Abnormality of higher mental function	90624	LYRM7	OMIM:615838
HP:0011446	Abnormality of higher mental function	166785	MMAA	OMIM:251100
HP:0011446	Abnormality of higher mental function	50506	DUOX2	ORPHA:226316
HP:0011446	Abnormality of higher mental function	50506	DUOX2	ORPHA:95716
HP:0011446	Abnormality of higher mental function	34	ACADM	ORPHA:42
HP:0011446	Abnormality of higher mental function	34	ACADM	OMIM:201450
HP:0011446	Abnormality of higher mental function	84833	ATP5MK	OMIM:618683
HP:0011446	Abnormality of higher mental function	654	BMP6	ORPHA:465508
HP:0011446	Abnormality of higher mental function	3077	HFE	ORPHA:465508
HP:0011446	Abnormality of higher mental function	445	ASS1	OMIM:215700
HP:0011446	Abnormality of higher mental function	7201	TRHR	ORPHA:99832
HP:0011446	Abnormality of higher mental function	7201	TRHR	OMIM:618573
HP:0011446	Abnormality of higher mental function	6528	SLC5A5	OMIM:274400
HP:0011446	Abnormality of higher mental function	6528	SLC5A5	ORPHA:95716
HP:0011446	Abnormality of higher mental function	1967	EIF2B1	OMIM:603896
HP:0011446	Abnormality of higher mental function	6135	RPL11	ORPHA:124
HP:0011446	Abnormality of higher mental function	6138	RPL15	ORPHA:124
HP:0011446	Abnormality of higher mental function	6229	RPS24	ORPHA:124
HP:0011446	Abnormality of higher mental function	6125	RPL5	ORPHA:124
HP:0011446	Abnormality of higher mental function	6204	RPS10	ORPHA:124
HP:0011446	Abnormality of higher mental function	6224	RPS20	ORPHA:124
HP:0011446	Abnormality of higher mental function	6165	RPL35A	ORPHA:124
HP:0011446	Abnormality of higher mental function	2623	GATA1	ORPHA:124
HP:0011446	Abnormality of higher mental function	6223	RPS19	ORPHA:124
HP:0011446	Abnormality of higher mental function	6232	RPS27	ORPHA:124
HP:0011446	Abnormality of higher mental function	6231	RPS26	ORPHA:124
HP:0011446	Abnormality of higher mental function	11224	RPL35	ORPHA:124
HP:0011446	Abnormality of higher mental function	6160	RPL31	ORPHA:124
HP:0011446	Abnormality of higher mental function	6218	RPS17	ORPHA:124
HP:0011446	Abnormality of higher mental function	6201	RPS7	ORPHA:124
HP:0011446	Abnormality of higher mental function	6155	RPL27	ORPHA:124
HP:0011446	Abnormality of higher mental function	6154	RPL26	ORPHA:124
HP:0011446	Abnormality of higher mental function	6210	RPS15A	ORPHA:124
HP:0011446	Abnormality of higher mental function	90121	TSR2	ORPHA:124
HP:0011446	Abnormality of higher mental function	6141	RPL18	ORPHA:124
HP:0011446	Abnormality of higher mental function	6235	RPS29	ORPHA:124
HP:0011446	Abnormality of higher mental function	6234	RPS28	ORPHA:124
HP:0011446	Abnormality of higher mental function	27247	NFU1	OMIM:605711
HP:0011446	Abnormality of higher mental function	6927	HNF1A	ORPHA:324575
HP:0011446	Abnormality of higher mental function	51067	YARS2	OMIM:613561
HP:0011446	Abnormality of higher mental function	7351	UCP2	ORPHA:276556
HP:0011446	Abnormality of higher mental function	291	SLC25A4	ORPHA:254892
HP:0011446	Abnormality of higher mental function	5428	POLG	ORPHA:254892
HP:0011446	Abnormality of higher mental function	56652	TWNK	ORPHA:254892
HP:0011446	Abnormality of higher mental function	11232	POLG2	ORPHA:254892
HP:0011446	Abnormality of higher mental function	3155	HMGCL	ORPHA:20
HP:0011446	Abnormality of higher mental function	5076	PAX2	ORPHA:97362
HP:0011446	Abnormality of higher mental function	5087	PBX1	ORPHA:97362
HP:0011446	Abnormality of higher mental function	763	CA5A	OMIM:615751
HP:0011446	Abnormality of higher mental function	6948	TCN2	OMIM:275350
HP:0011446	Abnormality of higher mental function	3875	KRT18	OMIM:215600
HP:0011446	Abnormality of higher mental function	9256	TSPOAP1	ORPHA:101150
HP:0011446	Abnormality of higher mental function	7054	TH	ORPHA:101150
HP:0011446	Abnormality of higher mental function	27249	MMADHC	OMIM:277410
HP:0011446	Abnormality of higher mental function	27249	MMADHC	ORPHA:79283
HP:0011446	Abnormality of higher mental function	5160	PDHA1	OMIM:312170
HP:0011446	Abnormality of higher mental function	10560	SLC19A2	ORPHA:49827
HP:0011446	Abnormality of higher mental function	6833	ABCC8	ORPHA:276575
HP:0011446	Abnormality of higher mental function	2710	GK	OMIM:307030
HP:0011446	Abnormality of higher mental function	3767	KCNJ11	ORPHA:276580
HP:0011446	Abnormality of higher mental function	513	ATP5F1D	OMIM:618120
HP:0011446	Abnormality of higher mental function	7019	TFAM	OMIM:617156
HP:0011446	Abnormality of higher mental function	11274	USP18	OMIM:617397
HP:0011446	Abnormality of higher mental function	405753	DUOXA2	ORPHA:95716
HP:0011446	Abnormality of higher mental function	7038	TG	ORPHA:95716
HP:0011446	Abnormality of higher mental function	7173	TPO	ORPHA:95716
HP:0011446	Abnormality of higher mental function	389434	IYD	ORPHA:95716
HP:0011446	Abnormality of higher mental function	5277	PIGA	ORPHA:447
HP:0011446	Abnormality of higher mental function	3712	IVD	OMIM:243500
HP:0011446	Abnormality of higher mental function	3172	HNF4A	ORPHA:263455
HP:0011446	Abnormality of higher mental function	55630	SLC39A4	OMIM:201100
HP:0011446	Abnormality of higher mental function	57817	HAMP	ORPHA:79230
HP:0011446	Abnormality of higher mental function	326625	MMAB	OMIM:251110
HP:0011446	Abnormality of higher mental function	37	ACADVL	OMIM:201475
HP:0011446	Abnormality of higher mental function	37	ACADVL	ORPHA:26793
HP:0011446	Abnormality of higher mental function	35	ACADS	OMIM:201470
HP:0011446	Abnormality of higher mental function	35	ACADS	ORPHA:26792
HP:0011446	Abnormality of higher mental function	435	ASL	OMIM:207900
HP:0011446	Abnormality of higher mental function	54796	BNC2	ORPHA:93110
HP:0011446	Abnormality of higher mental function	3032	HADHB	ORPHA:746
HP:0011446	Abnormality of higher mental function	3030	HADHA	ORPHA:746
HP:0011446	Abnormality of higher mental function	3030	HADHA	OMIM:609015
HP:0011446	Abnormality of higher mental function	60558	GUF1	OMIM:617065
HP:0011446	Abnormality of higher mental function	2998	GYS2	ORPHA:2089
HP:0011446	Abnormality of higher mental function	57038	RARS2	OMIM:611523
HP:0011446	Abnormality of higher mental function	10551	AGR2	OMIM:620233
HP:0011446	Abnormality of higher mental function	2203	FBP1	OMIM:229700
HP:0011446	Abnormality of higher mental function	551	AVP	ORPHA:30925
HP:0011446	Abnormality of higher mental function	60386	SLC25A19	OMIM:613710
HP:0011446	Abnormality of higher mental function	55005	RMND1	OMIM:614922
HP:0011446	Abnormality of higher mental function	1807	DPYS	OMIM:222748
HP:0011446	Abnormality of higher mental function	18	ABAT	OMIM:613163
HP:0011446	Abnormality of higher mental function	9054	NFS1	OMIM:619386
HP:0011446	Abnormality of higher mental function	1373	CPS1	OMIM:237300
HP:0011446	Abnormality of higher mental function	85465	SELENOI	ORPHA:506353
HP:0011446	Abnormality of higher mental function	85465	SELENOI	OMIM:618768
HP:0011446	Abnormality of higher mental function	29899	GPSM2	OMIM:604213
HP:0011446	Abnormality of higher mental function	55703	POLR3B	OMIM:614381
HP:0011446	Abnormality of higher mental function	51256	TBC1D7	OMIM:248000
HP:0011446	Abnormality of higher mental function	3094	HINT1	ORPHA:324442
HP:0011446	Abnormality of higher mental function	23261	CAMTA1	ORPHA:314647
HP:0011446	Abnormality of higher mental function	23261	CAMTA1	OMIM:614756
HP:0011446	Abnormality of higher mental function	10084	PQBP1	ORPHA:93950
HP:0011446	Abnormality of higher mental function	10084	PQBP1	ORPHA:93945
HP:0011446	Abnormality of higher mental function	4522	MTHFD1	OMIM:617780
HP:0011446	Abnormality of higher mental function	2737	GLI3	ORPHA:380
HP:0011446	Abnormality of higher mental function	2737	GLI3	OMIM:175700
HP:0011446	Abnormality of higher mental function	5917	RARS1	ORPHA:438114
HP:0011446	Abnormality of higher mental function	5917	RARS1	OMIM:616140
HP:0011446	Abnormality of higher mental function	8309	ACOX2	OMIM:617308
HP:0011446	Abnormality of higher mental function	57156	TMEM63C	OMIM:619966
HP:0011446	Abnormality of higher mental function	3764	KCNJ8	ORPHA:1517
HP:0011446	Abnormality of higher mental function	10060	ABCC9	ORPHA:1517
HP:0011446	Abnormality of higher mental function	10060	ABCC9	OMIM:239850
HP:0011446	Abnormality of higher mental function	488	ATP2A2	OMIM:124200
HP:0011446	Abnormality of higher mental function	90	ACVR1	OMIM:135100
HP:0011446	Abnormality of higher mental function	84572	GNPTG	OMIM:252605
HP:0011446	Abnormality of higher mental function	54	ACP5	OMIM:607944
HP:0011446	Abnormality of higher mental function	80153	EDC3	OMIM:616460
HP:0011446	Abnormality of higher mental function	55154	MSTO1	OMIM:617675
HP:0011446	Abnormality of higher mental function	55154	MSTO1	ORPHA:502423
HP:0011446	Abnormality of higher mental function	6884	TAF13	OMIM:617432
HP:0011446	Abnormality of higher mental function	10939	AFG3L2	ORPHA:313772
HP:0011446	Abnormality of higher mental function	7020	TFAP2A	OMIM:113620
HP:0011446	Abnormality of higher mental function	200734	SPRED2	OMIM:619745
HP:0011446	Abnormality of higher mental function	79731	NARS2	OMIM:616239
HP:0011446	Abnormality of higher mental function	2316	FLNA	ORPHA:90650
HP:0011446	Abnormality of higher mental function	2316	FLNA	OMIM:311300
HP:0011446	Abnormality of higher mental function	2316	FLNA	OMIM:300049
HP:0011446	Abnormality of higher mental function	5192	PEX10	ORPHA:247815
HP:0011446	Abnormality of higher mental function	81794	ADAMTS10	OMIM:277600
HP:0011446	Abnormality of higher mental function	81794	ADAMTS10	ORPHA:3449
HP:0011446	Abnormality of higher mental function	63895	PIEZO2	OMIM:114300
HP:0011446	Abnormality of higher mental function	55280	CWF19L1	OMIM:616127
HP:0011446	Abnormality of higher mental function	54902	TTC19	OMIM:615157
HP:0011446	Abnormality of higher mental function	56052	ALG1	ORPHA:79327
HP:0011446	Abnormality of higher mental function	10908	PNPLA6	OMIM:215470
HP:0011446	Abnormality of higher mental function	10021	HCN4	OMIM:619521
HP:0011446	Abnormality of higher mental function	1615	DARS1	OMIM:615281
HP:0011446	Abnormality of higher mental function	7750	ZMYM2	OMIM:619522
HP:0011446	Abnormality of higher mental function	8733	GPAA1	ORPHA:529665
HP:0011446	Abnormality of higher mental function	2720	GLB1	OMIM:230650
HP:0011446	Abnormality of higher mental function	9158	FIBP	OMIM:617107
HP:0011446	Abnormality of higher mental function	641	BLM	OMIM:210900
HP:0011446	Abnormality of higher mental function	2263	FGFR2	ORPHA:168624
HP:0011446	Abnormality of higher mental function	10531	PITRM1	OMIM:619405
HP:0011446	Abnormality of higher mental function	38	ACAT1	ORPHA:134
HP:0011446	Abnormality of higher mental function	51062	ATL1	OMIM:182600
HP:0011446	Abnormality of higher mental function	178	AGL	ORPHA:366
HP:0011446	Abnormality of higher mental function	2742	GLRA2	OMIM:301076
HP:0011446	Abnormality of higher mental function	9742	IFT140	OMIM:266920
HP:0011446	Abnormality of higher mental function	5111	PCNA	ORPHA:438134
HP:0011446	Abnormality of higher mental function	60529	ALX4	ORPHA:228390
HP:0011446	Abnormality of higher mental function	2583	B4GALNT1	OMIM:609195
HP:0011446	Abnormality of higher mental function	3242	HPD	OMIM:276710
HP:0011446	Abnormality of higher mental function	3242	HPD	OMIM:140350
HP:0011446	Abnormality of higher mental function	3479	IGF1	ORPHA:73272
HP:0011446	Abnormality of higher mental function	388015	RTL1	ORPHA:254534
HP:0011446	Abnormality of higher mental function	8788	DLK1	ORPHA:254534
HP:0011446	Abnormality of higher mental function	55384	MEG3	ORPHA:254534
HP:0011446	Abnormality of higher mental function	10466	COG5	ORPHA:263487
HP:0011446	Abnormality of higher mental function	6885	MAP3K7	OMIM:617137
HP:0011446	Abnormality of higher mental function	1756	DMD	OMIM:310200
HP:0011446	Abnormality of higher mental function	4568	MT-TL2	ORPHA:663
HP:0011446	Abnormality of higher mental function	4570	MT-TN	ORPHA:663
HP:0011446	Abnormality of higher mental function	23102	TBC1D2B	OMIM:619323
HP:0011446	Abnormality of higher mental function	23102	TBC1D2B	ORPHA:397973
HP:0011446	Abnormality of higher mental function	56521	DNAJC12	OMIM:617384
HP:0011446	Abnormality of higher mental function	3714	JAG2	OMIM:619566
HP:0011446	Abnormality of higher mental function	51119	SBDS	OMIM:260400
HP:0011446	Abnormality of higher mental function	134218	DNAJC21	OMIM:260400
HP:0011446	Abnormality of higher mental function	6729	SRP54	OMIM:260400
HP:0011446	Abnormality of higher mental function	4041	LRP5	OMIM:259770
HP:0011446	Abnormality of higher mental function	4041	LRP5	ORPHA:891
HP:0011446	Abnormality of higher mental function	8888	MCM3AP	OMIM:618124
HP:0011446	Abnormality of higher mental function	51473	DCDC2	OMIM:617394
HP:0011446	Abnormality of higher mental function	537	ATP6AP1	OMIM:300972
HP:0011446	Abnormality of higher mental function	4998	ORC1	OMIM:224690
HP:0011446	Abnormality of higher mental function	54496	PRMT7	OMIM:617157
HP:0011446	Abnormality of higher mental function	54496	PRMT7	ORPHA:464288
HP:0011446	Abnormality of higher mental function	2664	GDI1	OMIM:300849
HP:0011446	Abnormality of higher mental function	1009	CDH11	OMIM:211380
HP:0011446	Abnormality of higher mental function	8091	HMGA2	ORPHA:94063
HP:0011446	Abnormality of higher mental function	23592	LEMD3	ORPHA:94063
HP:0011446	Abnormality of higher mental function	10013	HDAC6	OMIM:300863
HP:0011446	Abnormality of higher mental function	10013	HDAC6	ORPHA:163966
HP:0011446	Abnormality of higher mental function	4613	MYCN	OMIM:164280
HP:0011446	Abnormality of higher mental function	57187	THOC2	ORPHA:457240
HP:0011446	Abnormality of higher mental function	9401	RECQL4	OMIM:266280
HP:0011446	Abnormality of higher mental function	55186	SLC25A36	OMIM:620211
HP:0011446	Abnormality of higher mental function	10771	ZMYND11	OMIM:616083
HP:0011446	Abnormality of higher mental function	6611	SMS	ORPHA:3063
HP:0011446	Abnormality of higher mental function	1021	CDK6	OMIM:616080
HP:0011446	Abnormality of higher mental function	55213	RCBTB1	OMIM:617175
HP:0011446	Abnormality of higher mental function	29957	SLC25A24	ORPHA:2095
HP:0011446	Abnormality of higher mental function	8452	CUL3	OMIM:619239
HP:0011446	Abnormality of higher mental function	92935	MARS2	ORPHA:314603
HP:0011446	Abnormality of higher mental function	246329	STAC3	ORPHA:168572
HP:0011446	Abnormality of higher mental function	5781	PTPN11	ORPHA:500
HP:0011446	Abnormality of higher mental function	5781	PTPN11	OMIM:151100
HP:0011446	Abnormality of higher mental function	5894	RAF1	ORPHA:500
HP:0011446	Abnormality of higher mental function	55624	POMGNT1	ORPHA:370959
HP:0011446	Abnormality of higher mental function	23067	SETD1B	OMIM:619000
HP:0011446	Abnormality of higher mental function	55717	WDR11	OMIM:620237
HP:0011446	Abnormality of higher mental function	84905	ZNF341	OMIM:618282
HP:0011446	Abnormality of higher mental function	23554	TSPAN12	ORPHA:891
HP:0011446	Abnormality of higher mental function	79797	ZNF408	ORPHA:891
HP:0011446	Abnormality of higher mental function	8322	FZD4	ORPHA:891
HP:0011446	Abnormality of higher mental function	4508	MT-ATP6	ORPHA:225154
HP:0011446	Abnormality of higher mental function	23636	NUP62	ORPHA:225154
HP:0011446	Abnormality of higher mental function	4256	MGP	OMIM:245150
HP:0011446	Abnormality of higher mental function	4256	MGP	ORPHA:85202
HP:0011446	Abnormality of higher mental function	23133	PHF8	ORPHA:85287
HP:0011446	Abnormality of higher mental function	23133	PHF8	OMIM:300263
HP:0011446	Abnormality of higher mental function	92344	GORAB	ORPHA:2078
HP:0011446	Abnormality of higher mental function	5831	PYCR1	ORPHA:2078
HP:0011446	Abnormality of higher mental function	8799	PEX11B	OMIM:614920
HP:0011446	Abnormality of higher mental function	10020	GNE	ORPHA:3166
HP:0011446	Abnormality of higher mental function	10020	GNE	OMIM:269921
HP:0011446	Abnormality of higher mental function	4668	NAGA	OMIM:609242
HP:0011446	Abnormality of higher mental function	4668	NAGA	ORPHA:79280
HP:0011446	Abnormality of higher mental function	5611	DNAJC3	ORPHA:445062
HP:0011446	Abnormality of higher mental function	1630	DCC	OMIM:157600
HP:0011446	Abnormality of higher mental function	1630	DCC	ORPHA:238722
HP:0011446	Abnormality of higher mental function	91574	MTRFR	ORPHA:320375
HP:0011446	Abnormality of higher mental function	375056	MIA3	OMIM:619269
HP:0011446	Abnormality of higher mental function	9652	SKIC3	ORPHA:84064
HP:0011446	Abnormality of higher mental function	6499	SKIC2	ORPHA:84064
HP:0011446	Abnormality of higher mental function	55315	SLC29A3	ORPHA:168569
HP:0011446	Abnormality of higher mental function	2138	EYA1	OMIM:166780
HP:0011446	Abnormality of higher mental function	5696	PSMB8	OMIM:256040
HP:0011446	Abnormality of higher mental function	3516	RBPJ	OMIM:614814
HP:0011446	Abnormality of higher mental function	8085	KMT2D	OMIM:147920
HP:0011446	Abnormality of higher mental function	7403	KDM6A	OMIM:147920
HP:0011446	Abnormality of higher mental function	23443	SLC35A3	ORPHA:370943
HP:0011446	Abnormality of higher mental function	324	APC	ORPHA:261584
HP:0011446	Abnormality of higher mental function	6853	SYN1	OMIM:300115
HP:0011446	Abnormality of higher mental function	10806	SDCCAG8	OMIM:613615
HP:0011446	Abnormality of higher mental function	29072	SETD2	ORPHA:821
HP:0011446	Abnormality of higher mental function	55780	ERMARD	ORPHA:75857
HP:0011446	Abnormality of higher mental function	6866	TAC3	OMIM:614839
HP:0011446	Abnormality of higher mental function	25778	DSTYK	OMIM:270750
HP:0011446	Abnormality of higher mental function	9382	COG1	ORPHA:263508
HP:0011446	Abnormality of higher mental function	274	BIN1	OMIM:255200
HP:0011446	Abnormality of higher mental function	274	BIN1	ORPHA:169186
HP:0011446	Abnormality of higher mental function	5631	PRPS1	ORPHA:1187
HP:0011446	Abnormality of higher mental function	8546	AP3B1	OMIM:608233
HP:0011446	Abnormality of higher mental function	4591	TRIM37	OMIM:253250
HP:0011446	Abnormality of higher mental function	124512	METTL23	OMIM:615942
HP:0011446	Abnormality of higher mental function	657	BMPR1A	ORPHA:79076
HP:0011446	Abnormality of higher mental function	9711	RUBCN	OMIM:615705
HP:0011446	Abnormality of higher mental function	65109	UPF3B	OMIM:300676
HP:0011446	Abnormality of higher mental function	4803	NGF	ORPHA:64752
HP:0011446	Abnormality of higher mental function	4803	NGF	OMIM:608654
HP:0011446	Abnormality of higher mental function	3748	KCNC3	ORPHA:98768
HP:0011446	Abnormality of higher mental function	2259	FGF14	ORPHA:98764
HP:0011446	Abnormality of higher mental function	55027	HEATR3	OMIM:620072
HP:0011446	Abnormality of higher mental function	2200	FBN1	OMIM:608328
HP:0011446	Abnormality of higher mental function	2200	FBN1	ORPHA:3449
HP:0011446	Abnormality of higher mental function	182	JAG1	OMIM:118450
HP:0011446	Abnormality of higher mental function	3708	ITPR1	OMIM:117360
HP:0011446	Abnormality of higher mental function	55906	ZC4H2	ORPHA:3454
HP:0011446	Abnormality of higher mental function	55906	ZC4H2	OMIM:314580
HP:0011446	Abnormality of higher mental function	3481	IGF2	ORPHA:2128
HP:0011446	Abnormality of higher mental function	10984	KCNQ1OT1	ORPHA:2128
HP:0011446	Abnormality of higher mental function	283120	H19	ORPHA:2128
HP:0011446	Abnormality of higher mental function	55129	ANO10	ORPHA:284289
HP:0011446	Abnormality of higher mental function	254065	BRWD3	OMIM:300659
HP:0011446	Abnormality of higher mental function	4053	LTBP2	ORPHA:3449
HP:0011446	Abnormality of higher mental function	2146	EZH2	OMIM:277590
HP:0011446	Abnormality of higher mental function	55835	CENPJ	OMIM:613676
HP:0011446	Abnormality of higher mental function	10815	CPLX1	ORPHA:352582
HP:0011446	Abnormality of higher mental function	57465	TBC1D24	ORPHA:352582
HP:0011446	Abnormality of higher mental function	5048	PAFAH1B1	ORPHA:95232
HP:0011446	Abnormality of higher mental function	92154	MTSS2	OMIM:620086
HP:0011446	Abnormality of higher mental function	6567	SLC16A2	ORPHA:59
HP:0011446	Abnormality of higher mental function	23590	PDSS1	OMIM:614651
HP:0011446	Abnormality of higher mental function	6307	MSMO1	OMIM:616834
HP:0011446	Abnormality of higher mental function	79738	BBS10	OMIM:615987
HP:0011446	Abnormality of higher mental function	6664	SOX11	OMIM:615866
HP:0011446	Abnormality of higher mental function	84705	GTPBP3	ORPHA:444013
HP:0011446	Abnormality of higher mental function	10290	SPEG	ORPHA:169186
HP:0011446	Abnormality of higher mental function	7273	TTN	ORPHA:169186
HP:0011446	Abnormality of higher mental function	5888	RAD51	ORPHA:238722
HP:0011446	Abnormality of higher mental function	10126	DNAL4	ORPHA:238722
HP:0011446	Abnormality of higher mental function	9423	NTN1	ORPHA:238722
HP:0011446	Abnormality of higher mental function	2245	FGD1	OMIM:305400
HP:0011446	Abnormality of higher mental function	51621	KLF13	OMIM:612001
HP:0011446	Abnormality of higher mental function	1139	CHRNA7	OMIM:612001
HP:0011446	Abnormality of higher mental function	5648	MASP1	OMIM:257920
HP:0011446	Abnormality of higher mental function	6712	SPTBN2	ORPHA:352403
HP:0011446	Abnormality of higher mental function	55187	VPS13D	OMIM:607317
HP:0011446	Abnormality of higher mental function	84816	RTN4IP1	OMIM:616732
HP:0011446	Abnormality of higher mental function	131118	DNAJC19	OMIM:610198
HP:0011446	Abnormality of higher mental function	169792	GLIS3	OMIM:610199
HP:0011446	Abnormality of higher mental function	767	CA8	OMIM:613227
HP:0011446	Abnormality of higher mental function	2122	MECOM	OMIM:616738
HP:0011446	Abnormality of higher mental function	27315	PGAP2	OMIM:614207
HP:0011446	Abnormality of higher mental function	54974	THG1L	OMIM:618800
HP:0011446	Abnormality of higher mental function	20	ABCA2	OMIM:618808
HP:0011446	Abnormality of higher mental function	57599	WDR48	ORPHA:401800
HP:0011446	Abnormality of higher mental function	5718	PSMD12	ORPHA:529962
HP:0011446	Abnormality of higher mental function	2186	BPTF	ORPHA:529962
HP:0011446	Abnormality of higher mental function	29980	DONSON	OMIM:617604
HP:0011446	Abnormality of higher mental function	158326	FREM1	OMIM:608980
HP:0011446	Abnormality of higher mental function	9150	CTDP1	ORPHA:48431
HP:0011446	Abnormality of higher mental function	23209	MLC1	OMIM:604004
HP:0011446	Abnormality of higher mental function	80055	PGAP1	ORPHA:401820
HP:0011446	Abnormality of higher mental function	9702	CEP57	OMIM:614114
HP:0011446	Abnormality of higher mental function	4780	NFE2L2	OMIM:617744
HP:0011446	Abnormality of higher mental function	3295	HSD17B4	OMIM:233400
HP:0011446	Abnormality of higher mental function	113246	C12orf57	OMIM:218340
HP:0011446	Abnormality of higher mental function	5456	POU3F4	ORPHA:1435
HP:0011446	Abnormality of higher mental function	25782	RAB3GAP2	ORPHA:401830
HP:0011446	Abnormality of higher mental function	57502	NLGN4X	OMIM:300495
HP:0011446	Abnormality of higher mental function	4141	MARS1	ORPHA:401835
HP:0011446	Abnormality of higher mental function	119559	SFXN4	OMIM:615578
HP:0011446	Abnormality of higher mental function	57104	PNPLA2	ORPHA:98908
HP:0011446	Abnormality of higher mental function	51684	SUFU	OMIM:617757
HP:0011446	Abnormality of higher mental function	51663	ZFR	ORPHA:401840
HP:0011446	Abnormality of higher mental function	23309	SIN3B	ORPHA:500166
HP:0011446	Abnormality of higher mental function	23404	EXOSC2	OMIM:617763
HP:0011446	Abnormality of higher mental function	23001	WDFY3	OMIM:617520
HP:0011446	Abnormality of higher mental function	6736	SRY	ORPHA:1772
HP:0011446	Abnormality of higher mental function	5290	PIK3CA	OMIM:615108
HP:0011446	Abnormality of higher mental function	207	AKT1	OMIM:615109
HP:0011446	Abnormality of higher mental function	58499	ZNF462	OMIM:618619
HP:0011446	Abnormality of higher mental function	9990	SLC12A6	OMIM:218000
HP:0011446	Abnormality of higher mental function	5551	PRF1	ORPHA:540
HP:0011446	Abnormality of higher mental function	5551	PRF1	OMIM:603553
HP:0011446	Abnormality of higher mental function	8676	STX11	ORPHA:540
HP:0011446	Abnormality of higher mental function	201294	UNC13D	ORPHA:540
HP:0011446	Abnormality of higher mental function	6813	STXBP2	ORPHA:540
HP:0011446	Abnormality of higher mental function	58472	SQOR	OMIM:619221
HP:0011446	Abnormality of higher mental function	5498	PPOX	ORPHA:79473
HP:0011446	Abnormality of higher mental function	10068	IL18BP	OMIM:618549
HP:0011446	Abnormality of higher mental function	5274	SERPINI1	OMIM:604218
HP:0011446	Abnormality of higher mental function	2673	GFPT1	OMIM:608931
HP:0011446	Abnormality of higher mental function	1145	CHRNE	OMIM:608931
HP:0011446	Abnormality of higher mental function	23646	PLD3	OMIM:617770
HP:0011446	Abnormality of higher mental function	91452	ACBD5	OMIM:618863
HP:0011446	Abnormality of higher mental function	4750	NEK1	OMIM:617892
HP:0011446	Abnormality of higher mental function	9254	CACNA2D2	OMIM:618501
HP:0011446	Abnormality of higher mental function	1134	CHRNA1	OMIM:608930
HP:0011446	Abnormality of higher mental function	1134	CHRNA1	OMIM:601462
HP:0011446	Abnormality of higher mental function	5521	PPP2R2B	OMIM:604326
HP:0011446	Abnormality of higher mental function	10528	NOP56	OMIM:614153
HP:0011446	Abnormality of higher mental function	10528	NOP56	ORPHA:276198
HP:0011446	Abnormality of higher mental function	101060691	NUTM2B-AS1	OMIM:618637
HP:0011446	Abnormality of higher mental function	472	ATM	OMIM:208900
HP:0011446	Abnormality of higher mental function	472	ATM	ORPHA:100
HP:0011446	Abnormality of higher mental function	27102	EIF2AK1	OMIM:618878
HP:0011446	Abnormality of higher mental function	100996717	NOTCH2NLC	OMIM:603472
HP:0011446	Abnormality of higher mental function	100996717	NOTCH2NLC	OMIM:619473
HP:0011446	Abnormality of higher mental function	100996717	NOTCH2NLC	ORPHA:2289
HP:0011446	Abnormality of higher mental function	146057	TTBK2	OMIM:604432
HP:0011446	Abnormality of higher mental function	146057	TTBK2	ORPHA:98767
HP:0011446	Abnormality of higher mental function	219285	SAMD9L	OMIM:159550
HP:0011446	Abnormality of higher mental function	219285	SAMD9L	OMIM:619806
HP:0011446	Abnormality of higher mental function	311	ANXA11	OMIM:619733
HP:0011446	Abnormality of higher mental function	8560	DEGS1	OMIM:618404
HP:0011446	Abnormality of higher mental function	10049	DNAJB6	ORPHA:34516
HP:0011446	Abnormality of higher mental function	55149	MTPAP	ORPHA:254343
HP:0011446	Abnormality of higher mental function	55149	MTPAP	OMIM:613672
HP:0011446	Abnormality of higher mental function	10935	PRDX3	OMIM:619862
HP:0011446	Abnormality of higher mental function	284439	SLC25A42	OMIM:618416
HP:0011446	Abnormality of higher mental function	4747	NEFL	ORPHA:101085
HP:0011446	Abnormality of higher mental function	4311	MME	ORPHA:497764
HP:0011446	Abnormality of higher mental function	4311	MME	OMIM:617018
HP:0011446	Abnormality of higher mental function	9474	ATG5	OMIM:617584
HP:0011446	Abnormality of higher mental function	146227	BEAN1	ORPHA:217012
HP:0011446	Abnormality of higher mental function	146227	BEAN1	OMIM:117210
HP:0011446	Abnormality of higher mental function	6785	ELOVL4	ORPHA:1955
HP:0011446	Abnormality of higher mental function	6785	ELOVL4	OMIM:133190
HP:0011446	Abnormality of higher mental function	10667	FARS2	ORPHA:466722
HP:0011446	Abnormality of higher mental function	7143	TNR	OMIM:619653
HP:0011446	Abnormality of higher mental function	2395	FXN	OMIM:229300
HP:0011446	Abnormality of higher mental function	2395	FXN	ORPHA:95
HP:0011446	Abnormality of higher mental function	7737	RNF113A	ORPHA:33364
HP:0011446	Abnormality of higher mental function	6897	TARS1	ORPHA:33364
HP:0011446	Abnormality of higher mental function	85300	ATCAY	OMIM:601238
HP:0011446	Abnormality of higher mental function	85300	ATCAY	ORPHA:94122
HP:0011446	Abnormality of higher mental function	367	AR	ORPHA:481
HP:0011446	Abnormality of higher mental function	367	AR	OMIM:313200
HP:0011446	Abnormality of higher mental function	2512	FTL	ORPHA:157846
HP:0011446	Abnormality of higher mental function	2512	FTL	OMIM:606159
HP:0011446	Abnormality of higher mental function	10533	ATG7	OMIM:619422
HP:0011446	Abnormality of higher mental function	120	ADD3	OMIM:617008
HP:0011446	Abnormality of higher mental function	10371	SEMA3A	ORPHA:478
HP:0011446	Abnormality of higher mental function	81848	SPRY4	ORPHA:478
HP:0011446	Abnormality of higher mental function	23767	FLRT3	ORPHA:478
HP:0011446	Abnormality of higher mental function	79625	NDNF	ORPHA:478
HP:0011446	Abnormality of higher mental function	389549	FEZF1	ORPHA:478
HP:0011446	Abnormality of higher mental function	3730	ANOS1	ORPHA:478
HP:0011446	Abnormality of higher mental function	54756	IL17RD	ORPHA:478
HP:0011446	Abnormality of higher mental function	285025	CCDC141	ORPHA:478
HP:0011446	Abnormality of higher mental function	60675	PROK2	ORPHA:478
HP:0011446	Abnormality of higher mental function	1848	DUSP6	ORPHA:478
HP:0011446	Abnormality of higher mental function	6870	TACR3	ORPHA:478
HP:0011446	Abnormality of higher mental function	9394	HS6ST1	ORPHA:478
HP:0011446	Abnormality of higher mental function	8822	FGF17	ORPHA:478
HP:0011446	Abnormality of higher mental function	2639	GCDH	ORPHA:25
HP:0011446	Abnormality of higher mental function	4703	NEB	OMIM:256030
HP:0011446	Abnormality of higher mental function	3208	HPCA	ORPHA:99657
HP:0011446	Abnormality of higher mental function	3208	HPCA	OMIM:224500
HP:0011446	Abnormality of higher mental function	6548	SLC9A1	OMIM:616291
HP:0011446	Abnormality of higher mental function	81790	RNF170	OMIM:619686
HP:0011446	Abnormality of higher mental function	23114	NFASC	OMIM:618356
HP:0011446	Abnormality of higher mental function	137682	NDUFAF6	OMIM:618239
HP:0011446	Abnormality of higher mental function	137682	NDUFAF6	ORPHA:255241
HP:0011446	Abnormality of higher mental function	5010	CLDN11	OMIM:619328
HP:0011446	Abnormality of higher mental function	65055	REEP1	ORPHA:101011
HP:0011446	Abnormality of higher mental function	65055	REEP1	OMIM:610250
HP:0011446	Abnormality of higher mental function	5994	RFXAP	ORPHA:572
HP:0011446	Abnormality of higher mental function	4261	CIITA	ORPHA:572
HP:0011446	Abnormality of higher mental function	5993	RFX5	ORPHA:572
HP:0011446	Abnormality of higher mental function	8625	RFXANK	ORPHA:572
HP:0011446	Abnormality of higher mental function	7084	TK2	ORPHA:254875
HP:0011446	Abnormality of higher mental function	7084	TK2	OMIM:617069
HP:0011446	Abnormality of higher mental function	84340	GFM2	ORPHA:565624
HP:0011446	Abnormality of higher mental function	84340	GFM2	OMIM:618397
HP:0011446	Abnormality of higher mental function	4704	NDUFA9	OMIM:618247
HP:0011446	Abnormality of higher mental function	4704	NDUFA9	ORPHA:255241
HP:0011446	Abnormality of higher mental function	267010	RNU12	OMIM:620208
HP:0011446	Abnormality of higher mental function	267010	RNU12	ORPHA:512260
HP:0011446	Abnormality of higher mental function	549	AUH	OMIM:250950
HP:0011446	Abnormality of higher mental function	4547	MTTP	ORPHA:14
HP:0011446	Abnormality of higher mental function	1781	DYNC1I2	OMIM:618492
HP:0011446	Abnormality of higher mental function	51102	MECR	OMIM:617282
HP:0011446	Abnormality of higher mental function	51102	MECR	ORPHA:508093
HP:0011446	Abnormality of higher mental function	1814	DRD3	OMIM:190300
HP:0011446	Abnormality of higher mental function	1200	TPP1	OMIM:609270
HP:0011446	Abnormality of higher mental function	1200	TPP1	ORPHA:284324
HP:0011446	Abnormality of higher mental function	1938	EEF2	ORPHA:101112
HP:0011446	Abnormality of higher mental function	1938	EEF2	OMIM:609306
HP:0011446	Abnormality of higher mental function	84265	POLR3GL	OMIM:619234
HP:0011446	Abnormality of higher mental function	65260	COA7	OMIM:618387
HP:0011446	Abnormality of higher mental function	4361	MRE11	ORPHA:251347
HP:0011446	Abnormality of higher mental function	4361	MRE11	OMIM:604391
HP:0011446	Abnormality of higher mental function	128240	NAXE	OMIM:617186
HP:0011446	Abnormality of higher mental function	5173	PDYN	ORPHA:101108
HP:0011446	Abnormality of higher mental function	5173	PDYN	OMIM:610245
HP:0011446	Abnormality of higher mental function	55145	THAP1	OMIM:602629
HP:0011446	Abnormality of higher mental function	55145	THAP1	ORPHA:98806
HP:0011446	Abnormality of higher mental function	2733	GLE1	OMIM:611890
HP:0011446	Abnormality of higher mental function	22800	RRAS2	ORPHA:648
HP:0011446	Abnormality of higher mental function	867	CBL	ORPHA:648
HP:0011446	Abnormality of higher mental function	6237	RRAS	ORPHA:648
HP:0011446	Abnormality of higher mental function	22808	MRAS	ORPHA:648
HP:0011446	Abnormality of higher mental function	6655	SOS2	ORPHA:648
HP:0011446	Abnormality of higher mental function	5922	RASA2	ORPHA:648
HP:0011446	Abnormality of higher mental function	5216	PFN1	OMIM:614808
HP:0011446	Abnormality of higher mental function	129285	PPP1R21	OMIM:619383
HP:0011446	Abnormality of higher mental function	50640	PNPLA8	OMIM:251950
HP:0011446	Abnormality of higher mental function	60481	ELOVL5	ORPHA:423296
HP:0011446	Abnormality of higher mental function	60481	ELOVL5	OMIM:615957
HP:0011446	Abnormality of higher mental function	4352	MPL	ORPHA:71493
HP:0011446	Abnormality of higher mental function	7066	THPO	ORPHA:71493
HP:0011446	Abnormality of higher mental function	3717	JAK2	ORPHA:71493
HP:0011446	Abnormality of higher mental function	23769	FLRT1	ORPHA:320406
HP:0011446	Abnormality of higher mental function	64837	KLC2	ORPHA:320406
HP:0011446	Abnormality of higher mental function	64837	KLC2	OMIM:609541
HP:0011446	Abnormality of higher mental function	55532	SLC30A10	ORPHA:309854
HP:0011446	Abnormality of higher mental function	55532	SLC30A10	OMIM:613280
HP:0011446	Abnormality of higher mental function	9782	MATR3	OMIM:606070
HP:0011446	Abnormality of higher mental function	9782	MATR3	ORPHA:600
HP:0011446	Abnormality of higher mental function	54476	RNF216	OMIM:212840
HP:0011446	Abnormality of higher mental function	116228	COX20	OMIM:619054
HP:0011446	Abnormality of higher mental function	29967	LRP12	OMIM:164310
HP:0011446	Abnormality of higher mental function	823	CAPN1	OMIM:616907
HP:0011446	Abnormality of higher mental function	823	CAPN1	ORPHA:488594
HP:0011446	Abnormality of higher mental function	22	ABCB7	OMIM:301310
HP:0011446	Abnormality of higher mental function	7156	TOP3A	OMIM:618098
HP:0011446	Abnormality of higher mental function	26090	ABHD12	OMIM:612674
HP:0011446	Abnormality of higher mental function	1600	DAB1	OMIM:615945
HP:0011446	Abnormality of higher mental function	3475	IFRD1	ORPHA:98771
HP:0011446	Abnormality of higher mental function	3752	KCND3	ORPHA:98772
HP:0011446	Abnormality of higher mental function	3752	KCND3	OMIM:607346
HP:0011446	Abnormality of higher mental function	3211	HOXB1	OMIM:614744
HP:0011446	Abnormality of higher mental function	25894	PLEKHG4	ORPHA:98765
HP:0011446	Abnormality of higher mental function	10613	ERLIN1	ORPHA:401785
HP:0011446	Abnormality of higher mental function	10613	ERLIN1	OMIM:615681
HP:0011446	Abnormality of higher mental function	2934	GSN	ORPHA:85448
HP:0011446	Abnormality of higher mental function	8106	PABPN1	OMIM:164300
HP:0011446	Abnormality of higher mental function	10133	OPTN	OMIM:613435
HP:0011446	Abnormality of higher mental function	85021	REPS1	OMIM:617916
HP:0011446	Abnormality of higher mental function	79628	SH3TC2	ORPHA:99949
HP:0011446	Abnormality of higher mental function	23064	SETX	OMIM:606002
HP:0011446	Abnormality of higher mental function	8729	GBF1	OMIM:606483
HP:0011446	Abnormality of higher mental function	9420	CYP7B1	ORPHA:100986
HP:0011446	Abnormality of higher mental function	9420	CYP7B1	OMIM:270800
HP:0011446	Abnormality of higher mental function	25953	PNKD	OMIM:118800
HP:0011446	Abnormality of higher mental function	2058	EPRS1	OMIM:617951
HP:0011446	Abnormality of higher mental function	9217	VAPB	OMIM:608627
HP:0011446	Abnormality of higher mental function	22934	RPIA	OMIM:608611
HP:0011446	Abnormality of higher mental function	9499	MYOT	ORPHA:98911
HP:0011446	Abnormality of higher mental function	55967	NDUFA12	ORPHA:255241
HP:0011446	Abnormality of higher mental function	100131801	PET100	ORPHA:255241
HP:0011446	Abnormality of higher mental function	1355	COX15	ORPHA:255241
HP:0011446	Abnormality of higher mental function	1892	ECHS1	ORPHA:255241
HP:0011446	Abnormality of higher mental function	4705	NDUFA10	ORPHA:255241
HP:0011446	Abnormality of higher mental function	51601	LIPT1	ORPHA:255241
HP:0011446	Abnormality of higher mental function	4697	NDUFA4	ORPHA:255241
HP:0011446	Abnormality of higher mental function	7515	XRCC1	OMIM:617633
HP:0011446	Abnormality of higher mental function	23533	PIK3R5	OMIM:615217
HP:0011446	Abnormality of higher mental function	2196	FAT2	OMIM:617769
HP:0011446	Abnormality of higher mental function	6647	SOD1	OMIM:105400
HP:0011446	Abnormality of higher mental function	5630	PRPH	OMIM:105400
HP:0011446	Abnormality of higher mental function	4744	NEFH	OMIM:105400
HP:0011446	Abnormality of higher mental function	4927	NUP88	ORPHA:994
HP:0011446	Abnormality of higher mental function	7846	TUBA1A	ORPHA:994
HP:0011446	Abnormality of higher mental function	4654	MYOD1	ORPHA:994
HP:0011446	Abnormality of higher mental function	4593	MUSK	ORPHA:994
HP:0011446	Abnormality of higher mental function	5913	RAPSN	ORPHA:994
HP:0011446	Abnormality of higher mental function	285489	DOK7	ORPHA:994
HP:0011446	Abnormality of higher mental function	6559	SLC12A3	ORPHA:358
HP:0011446	Abnormality of higher mental function	7187	TRAF3	ORPHA:1930
HP:0011446	Abnormality of higher mental function	81622	UNC93B1	ORPHA:1930
HP:0011446	Abnormality of higher mental function	148022	TICAM1	ORPHA:1930
HP:0011446	Abnormality of higher mental function	4524	MTHFR	ORPHA:395
HP:0011446	Abnormality of higher mental function	51728	POLR3K	OMIM:619310
HP:0011446	Abnormality of higher mental function	23446	SLC44A1	OMIM:618868
HP:0011446	Abnormality of higher mental function	2778	GNAS	OMIM:219080
HP:0011446	Abnormality of higher mental function	478	ATP1A3	OMIM:614820
HP:0011446	Abnormality of higher mental function	478	ATP1A3	ORPHA:442835
HP:0011446	Abnormality of higher mental function	1786	DNMT1	ORPHA:314404
HP:0011446	Abnormality of higher mental function	1436	CSF1R	OMIM:618476
HP:0011446	Abnormality of higher mental function	1436	CSF1R	OMIM:221820
HP:0011446	Abnormality of higher mental function	8722	CTSF	OMIM:615362
HP:0011446	Abnormality of higher mental function	80347	COASY	OMIM:615643
HP:0011446	Abnormality of higher mental function	50940	PDE11A	OMIM:610475
HP:0011446	Abnormality of higher mental function	23600	AMACR	ORPHA:79095
HP:0011446	Abnormality of higher mental function	1476	CSTB	OMIM:254800
HP:0011446	Abnormality of higher mental function	5053	PAH	ORPHA:79254
HP:0011446	Abnormality of higher mental function	6314	ATXN7	OMIM:164500
HP:0011446	Abnormality of higher mental function	6314	ATXN7	ORPHA:94147
HP:0011446	Abnormality of higher mental function	1340	COX6B1	OMIM:619051
HP:0011446	Abnormality of higher mental function	51360	MBTPS2	ORPHA:2273
HP:0011446	Abnormality of higher mental function	727676	SNORD118	OMIM:614561
HP:0011446	Abnormality of higher mental function	727676	SNORD118	ORPHA:542310
HP:0011446	Abnormality of higher mental function	215	ABCD1	ORPHA:139396
HP:0011446	Abnormality of higher mental function	215	ABCD1	OMIM:300100
HP:0011446	Abnormality of higher mental function	3746	KCNC1	OMIM:616187
HP:0011446	Abnormality of higher mental function	54834	GDAP2	OMIM:618369
HP:0011446	Abnormality of higher mental function	55157	DARS2	ORPHA:137898
HP:0011446	Abnormality of higher mental function	2055	CLN8	OMIM:610003
HP:0011446	Abnormality of higher mental function	6575	SLC20A2	OMIM:213600
HP:0011446	Abnormality of higher mental function	5155	PDGFB	OMIM:213600
HP:0011446	Abnormality of higher mental function	5159	PDGFRB	OMIM:213600
HP:0011446	Abnormality of higher mental function	1509	CTSD	OMIM:610127
HP:0011446	Abnormality of higher mental function	9570	GOSR2	OMIM:620166
HP:0011446	Abnormality of higher mental function	10157	AASS	ORPHA:3124
HP:0011446	Abnormality of higher mental function	55750	AGK	OMIM:212350
HP:0011446	Abnormality of higher mental function	4566	MT-TK	ORPHA:1349
HP:0011446	Abnormality of higher mental function	5582	PRKCG	OMIM:605361
HP:0011446	Abnormality of higher mental function	1678	TIMM8A	OMIM:304700
HP:0011446	Abnormality of higher mental function	1678	TIMM8A	ORPHA:52368
HP:0011446	Abnormality of higher mental function	7274	TTPA	ORPHA:96
HP:0011446	Abnormality of higher mental function	79152	FA2H	ORPHA:329308
HP:0011446	Abnormality of higher mental function	79152	FA2H	OMIM:612319
HP:0011446	Abnormality of higher mental function	79152	FA2H	ORPHA:171629
HP:0011446	Abnormality of higher mental function	83636	C19orf12	OMIM:614298
HP:0011446	Abnormality of higher mental function	7098	TLR3	OMIM:613002
HP:0011446	Abnormality of higher mental function	80208	SPG11	ORPHA:2822
HP:0011446	Abnormality of higher mental function	80208	SPG11	OMIM:604360
HP:0011446	Abnormality of higher mental function	51271	UBAP1	OMIM:618418
HP:0011446	Abnormality of higher mental function	54840	APTX	OMIM:208920
HP:0011446	Abnormality of higher mental function	3737	KCNA2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	10991	SLC38A3	ORPHA:442835
HP:0011446	Abnormality of higher mental function	51343	FZR1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	22906	TRAK1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2566	GABRG2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2561	GABRB2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	7532	YWHAG	ORPHA:442835
HP:0011446	Abnormality of higher mental function	79876	UBA5	ORPHA:442835
HP:0011446	Abnormality of higher mental function	6328	SCN3A	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2558	GABRA5	ORPHA:442835
HP:0011446	Abnormality of higher mental function	781	CACNA2D1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2906	GRIN2D	ORPHA:442835
HP:0011446	Abnormality of higher mental function	116150	NUS1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	51741	WWOX	ORPHA:442835
HP:0011446	Abnormality of higher mental function	23334	SZT2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	51412	ACTL6B	ORPHA:442835
HP:0011446	Abnormality of higher mental function	348980	HCN1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	6506	SLC1A2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2258	FGF13	ORPHA:442835
HP:0011446	Abnormality of higher mental function	284111	SLC13A5	ORPHA:442835
HP:0011446	Abnormality of higher mental function	284111	SLC13A5	ORPHA:1946
HP:0011446	Abnormality of higher mental function	25977	NECAP1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	16	AARS1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	16	AARS1	OMIM:619661
HP:0011446	Abnormality of higher mental function	22866	CNKSR2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2555	GABRA2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	55152	DALRD3	ORPHA:442835
HP:0011446	Abnormality of higher mental function	26999	CYFIP2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	4915	NTRK2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	25973	PARS2	ORPHA:442835
HP:0011446	Abnormality of higher mental function	23097	CDK19	ORPHA:442835
HP:0011446	Abnormality of higher mental function	64801	ARV1	ORPHA:442835
HP:0011446	Abnormality of higher mental function	79947	DHDDS	ORPHA:442835
HP:0011446	Abnormality of higher mental function	2257	FGF12	ORPHA:442835
HP:0011446	Abnormality of higher mental function	5530	PPP3CA	ORPHA:442835
HP:0011446	Abnormality of higher mental function	950	SCARB2	OMIM:254900
HP:0011446	Abnormality of higher mental function	9907	AP5Z1	OMIM:613647
HP:0011446	Abnormality of higher mental function	220296	HEPACAM	OMIM:613925
HP:0011446	Abnormality of higher mental function	3735	KARS1	OMIM:619196
HP:0011446	Abnormality of higher mental function	84138	SLC7A6OS	OMIM:619191
HP:0011446	Abnormality of higher mental function	8879	SGPL1	OMIM:617575
HP:0011446	Abnormality of higher mental function	58494	JAM2	OMIM:618824
HP:0011446	Abnormality of higher mental function	9927	MFN2	OMIM:609260
HP:0011446	Abnormality of higher mental function	10846	PDE10A	OMIM:616922
HP:0011446	Abnormality of higher mental function	80067	DCAF17	ORPHA:3464
HP:0011446	Abnormality of higher mental function	80025	PANK2	OMIM:234200
HP:0011446	Abnormality of higher mental function	7507	XPA	OMIM:278700
HP:0011446	Abnormality of higher mental function	25915	NDUFAF3	ORPHA:70474
HP:0011446	Abnormality of higher mental function	4714	NDUFB8	ORPHA:70474
HP:0011446	Abnormality of higher mental function	4720	NDUFS2	ORPHA:70474
HP:0011446	Abnormality of higher mental function	9997	SCO2	ORPHA:70474
HP:0011446	Abnormality of higher mental function	6834	SURF1	ORPHA:70474
HP:0011446	Abnormality of higher mental function	57462	MYORG	OMIM:618317
HP:0011446	Abnormality of higher mental function	427	ASAH1	ORPHA:2590
HP:0011446	Abnormality of higher mental function	25974	MMACHC	ORPHA:79282
HP:0011446	Abnormality of higher mental function	57704	GBA2	OMIM:614409
HP:0011446	Abnormality of higher mental function	4683	NBN	ORPHA:647
HP:0011446	Abnormality of higher mental function	79641	ROGDI	ORPHA:1946
HP:0011446	Abnormality of higher mental function	6609	SMPD1	OMIM:607616
HP:0011446	Abnormality of higher mental function	3980	LIG3	OMIM:619780
HP:0011446	Abnormality of higher mental function	79587	CARS2	OMIM:616672
HP:0011446	Abnormality of higher mental function	4893	NRAS	OMIM:249400
HP:0011446	Abnormality of higher mental function	80169	CTC1	OMIM:612199
HP:0011446	Abnormality of higher mental function	10749	KIF1C	OMIM:611302
HP:0011446	Abnormality of higher mental function	339453	TMEM240	OMIM:607454
HP:0011446	Abnormality of higher mental function	3145	HMBS	ORPHA:79276
HP:0011446	Abnormality of higher mental function	56978	PRDM8	ORPHA:324290
HP:0011446	Abnormality of higher mental function	2068	ERCC2	OMIM:278730
HP:0011446	Abnormality of higher mental function	410	ARSA	OMIM:250100
HP:0011446	Abnormality of higher mental function	6584	SLC22A5	ORPHA:158
HP:0011446	Abnormality of higher mental function	6584	SLC22A5	OMIM:212140
HP:0011446	Abnormality of higher mental function	8029	CUBN	OMIM:261100
HP:0011446	Abnormality of higher mental function	6261	RYR1	ORPHA:466650
HP:0011446	Abnormality of higher mental function	80704	SLC19A3	OMIM:607483
HP:0011446	Abnormality of higher mental function	80704	SLC19A3	ORPHA:263410
HP:0011446	Abnormality of higher mental function	162417	NAGS	OMIM:237310
HP:0011446	Abnormality of higher mental function	162417	NAGS	ORPHA:927
HP:0011446	Abnormality of higher mental function	4125	MAN2B1	ORPHA:309282
HP:0011446	Abnormality of higher mental function	4125	MAN2B1	ORPHA:309288
HP:0011446	Abnormality of higher mental function	2073	ERCC5	ORPHA:220295
HP:0011446	Abnormality of higher mental function	2071	ERCC3	ORPHA:220295
HP:0011446	Abnormality of higher mental function	11093	ADAMTS13	OMIM:274150
HP:0011446	Abnormality of higher mental function	3033	HADH	ORPHA:71212
HP:0011446	Abnormality of higher mental function	11128	POLR3A	ORPHA:3455
HP:0011446	Abnormality of higher mental function	4221	MEN1	ORPHA:652
HP:0011446	Abnormality of higher mental function	1027	CDKN1B	ORPHA:652
HP:0011446	Abnormality of higher mental function	1026	CDKN1A	ORPHA:652
HP:0011446	Abnormality of higher mental function	1030	CDKN2B	ORPHA:652
HP:0011446	Abnormality of higher mental function	1031	CDKN2C	ORPHA:652
HP:0011446	Abnormality of higher mental function	210	ALAD	ORPHA:100924
HP:0011446	Abnormality of higher mental function	1371	CPOX	OMIM:121300
HP:0011446	Abnormality of higher mental function	7276	TTR	OMIM:105210
HP:0011446	Abnormality of higher mental function	7388	UQCRH	OMIM:620137
HP:0011446	Abnormality of higher mental function	5052	PRDX1	OMIM:277400
HP:0011446	Abnormality of higher mental function	149233	IL23R	ORPHA:117
HP:0011446	Abnormality of higher mental function	6775	STAT4	ORPHA:117
HP:0011446	Abnormality of higher mental function	3586	IL10	ORPHA:117
HP:0011446	Abnormality of higher mental function	4210	MEFV	ORPHA:117
HP:0011446	Abnormality of higher mental function	1230	CCR1	ORPHA:117
HP:0011446	Abnormality of higher mental function	355	FAS	ORPHA:117
HP:0011446	Abnormality of higher mental function	101928376	IL12A-AS1	ORPHA:117
HP:0011446	Abnormality of higher mental function	3106	HLA-B	ORPHA:117
HP:0011446	Abnormality of higher mental function	7099	TLR4	ORPHA:117
HP:0011446	Abnormality of higher mental function	3459	IFNGR1	ORPHA:117
HP:0011446	Abnormality of higher mental function	720	C4A	ORPHA:117
HP:0011446	Abnormality of higher mental function	337867	UBAC2	ORPHA:117
HP:0011446	Abnormality of higher mental function	51752	ERAP1	ORPHA:117
HP:0011446	Abnormality of higher mental function	8302	KLRC4	ORPHA:117
HP:0011446	Abnormality of higher mental function	3158	HMGCS2	OMIM:605911
HP:0011446	Abnormality of higher mental function	4791	NFKB2	ORPHA:293978
HP:0011446	Abnormality of higher mental function	208	AKT2	ORPHA:293964
HP:0011446	Abnormality of higher mental function	2108	ETFA	OMIM:231680
HP:0011446	Abnormality of higher mental function	2109	ETFB	OMIM:231680
HP:0011446	Abnormality of higher mental function	2110	ETFDH	OMIM:231680
HP:0011446	Abnormality of higher mental function	387787	LIPT2	OMIM:617668
HP:0011446	Abnormality of higher mental function	65082	VPS33A	OMIM:617303
HP:0011446	Abnormality of higher mental function	65082	VPS33A	ORPHA:505248
HP:0011446	Abnormality of higher mental function	10565	ARFGEF1	OMIM:619964
HP:0011446	Abnormality of higher mental function	170825	GSX2	OMIM:618646
HP:0011446	Abnormality of higher mental function	283987	HID1	OMIM:619983
HP:0011446	Abnormality of higher mental function	122961	ISCA2	OMIM:616370
HP:0011446	Abnormality of higher mental function	253959	RALGAPA1	OMIM:618797
HP:0011446	Abnormality of higher mental function	55656	INTS8	OMIM:618572
HP:0011446	Abnormality of higher mental function	51693	TRAPPC2L	OMIM:618331
HP:0011446	Abnormality of higher mental function	8818	DPM2	ORPHA:329178
HP:0011446	Abnormality of higher mental function	51608	GET4	OMIM:620200
HP:0011446	Abnormality of higher mental function	777	CACNA1E	OMIM:618285
HP:0011446	Abnormality of higher mental function	84081	NSRP1	OMIM:620001
HP:0011446	Abnormality of higher mental function	124454	EARS2	OMIM:614924
HP:0011446	Abnormality of higher mental function	1795	DOCK3	OMIM:618292
HP:0011446	Abnormality of higher mental function	347734	SLC35B2	OMIM:620269
HP:0011446	Abnormality of higher mental function	9255	AIMP1	OMIM:260600
HP:0011446	Abnormality of higher mental function	50628	GEMIN4	OMIM:617913
HP:0011446	Abnormality of higher mental function	51807	TUBA8	ORPHA:250972
HP:0011446	Abnormality of higher mental function	7280	TUBB2A	OMIM:615763
HP:0011446	Abnormality of higher mental function	51010	EXOSC3	OMIM:614678
HP:0011446	Abnormality of higher mental function	6182	MRPL12	OMIM:618951
HP:0011446	Abnormality of higher mental function	9197	SLC33A1	OMIM:614482
HP:0011446	Abnormality of higher mental function	9049	AIP	OMIM:219090
HP:0011446	Abnormality of higher mental function	5034	P4HB	OMIM:112240
HP:0011446	Abnormality of higher mental function	10269	ZMPSTE24	ORPHA:740
HP:0011446	Abnormality of higher mental function	9871	SEC24D	OMIM:616294
HP:0011446	Abnormality of higher mental function	10651	MTX2	OMIM:619127
HP:0011446	Abnormality of higher mental function	7486	WRN	OMIM:277700
HP:0011446	Abnormality of higher mental function	4193	MDM2	OMIM:618681
HP:0011446	Abnormality of higher mental function	5424	POLD1	OMIM:615381
HP:0011446	Abnormality of higher mental function	25886	POC1A	OMIM:614813
HP:0011446	Abnormality of higher mental function	871	SERPINH1	OMIM:613848
HP:0011446	Abnormality of higher mental function	261734	NPHP4	OMIM:606996
HP:0011446	Abnormality of higher mental function	261734	NPHP4	OMIM:606966
HP:0011446	Abnormality of higher mental function	79577	CDC73	ORPHA:143
HP:0011446	Abnormality of higher mental function	79577	CDC73	ORPHA:99880
HP:0011446	Abnormality of higher mental function	10686	CLDN16	OMIM:248250
HP:0011446	Abnormality of higher mental function	9071	CLDN10	OMIM:617671
HP:0011446	Abnormality of higher mental function	9365	KL	OMIM:617994
HP:0011446	Abnormality of higher mental function	3762	KCNJ5	OMIM:613677
HP:0011446	Abnormality of higher mental function	3762	KCNJ5	ORPHA:251274
HP:0011446	Abnormality of higher mental function	1584	CYP11B1	ORPHA:403
HP:0011446	Abnormality of higher mental function	1585	CYP11B2	ORPHA:403
HP:0011446	Abnormality of higher mental function	3291	HSD11B2	ORPHA:320
HP:0011446	Abnormality of higher mental function	254428	SLC41A1	OMIM:619468
HP:0011446	Abnormality of higher mental function	9860	LRIG2	ORPHA:2704
HP:0011446	Abnormality of higher mental function	60495	HPSE2	ORPHA:2704
HP:0011446	Abnormality of higher mental function	27031	NPHP3	OMIM:604387
HP:0011446	Abnormality of higher mental function	4137	MAPT	OMIM:600274
HP:0011446	Abnormality of higher mental function	4137	MAPT	OMIM:172700
HP:0011446	Abnormality of higher mental function	4137	MAPT	ORPHA:275864
HP:0011446	Abnormality of higher mental function	4137	MAPT	ORPHA:100070
HP:0011446	Abnormality of higher mental function	5663	PSEN1	OMIM:600274
HP:0011446	Abnormality of higher mental function	5663	PSEN1	OMIM:172700
HP:0011446	Abnormality of higher mental function	5663	PSEN1	ORPHA:275864
HP:0011446	Abnormality of higher mental function	5663	PSEN1	ORPHA:100070
HP:0011446	Abnormality of higher mental function	8398	PLA2G6	ORPHA:199351
HP:0011446	Abnormality of higher mental function	8398	PLA2G6	OMIM:612953
HP:0011446	Abnormality of higher mental function	25978	CHMP2B	OMIM:600795
HP:0011446	Abnormality of higher mental function	25978	CHMP2B	ORPHA:275864
HP:0011446	Abnormality of higher mental function	25978	CHMP2B	ORPHA:100070
HP:0011446	Abnormality of higher mental function	29978	UBQLN2	OMIM:300857
HP:0011446	Abnormality of higher mental function	1540	CYLD	OMIM:619132
HP:0011446	Abnormality of higher mental function	7072	TIA1	OMIM:619133
HP:0011446	Abnormality of higher mental function	23435	TARDBP	OMIM:612069
HP:0011446	Abnormality of higher mental function	23435	TARDBP	ORPHA:275872
HP:0011446	Abnormality of higher mental function	400916	CHCHD10	OMIM:615911
HP:0011446	Abnormality of higher mental function	400916	CHCHD10	ORPHA:275872
HP:0011446	Abnormality of higher mental function	7277	TUBA4A	OMIM:616208
HP:0011446	Abnormality of higher mental function	7415	VCP	OMIM:167320
HP:0011446	Abnormality of higher mental function	7415	VCP	ORPHA:275872
HP:0011446	Abnormality of higher mental function	7415	VCP	ORPHA:275864
HP:0011446	Abnormality of higher mental function	7415	VCP	ORPHA:52430
HP:0011446	Abnormality of higher mental function	7415	VCP	ORPHA:100070
HP:0011446	Abnormality of higher mental function	2521	FUS	ORPHA:275872
HP:0011446	Abnormality of higher mental function	8878	SQSTM1	ORPHA:275872
HP:0011446	Abnormality of higher mental function	8878	SQSTM1	ORPHA:275864
HP:0011446	Abnormality of higher mental function	8878	SQSTM1	OMIM:616437
HP:0011446	Abnormality of higher mental function	29110	TBK1	ORPHA:275872
HP:0011446	Abnormality of higher mental function	29110	TBK1	OMIM:616439
HP:0011446	Abnormality of higher mental function	203228	C9orf72	OMIM:105550
HP:0011446	Abnormality of higher mental function	2896	GRN	OMIM:607485
HP:0011446	Abnormality of higher mental function	2896	GRN	ORPHA:275864
HP:0011446	Abnormality of higher mental function	2896	GRN	ORPHA:100070
HP:0011446	Abnormality of higher mental function	899	CCNF	OMIM:619141
HP:0011446	Abnormality of higher mental function	23503	ZFYVE26	ORPHA:100996
HP:0011446	Abnormality of higher mental function	5575	PRKAR1B	ORPHA:412066
HP:0011446	Abnormality of higher mental function	3181	HNRNPA2B1	OMIM:615422
HP:0011446	Abnormality of higher mental function	3181	HNRNPA2B1	ORPHA:52430
HP:0011446	Abnormality of higher mental function	54664	TMEM106B	ORPHA:275864
HP:0011446	Abnormality of higher mental function	54664	TMEM106B	ORPHA:100070
HP:0011446	Abnormality of higher mental function	54209	TREM2	ORPHA:275864
HP:0011446	Abnormality of higher mental function	54209	TREM2	ORPHA:100070
HP:0011446	Abnormality of higher mental function	1639	DCTN1	OMIM:168605
HP:0011446	Abnormality of higher mental function	3178	HNRNPA1	ORPHA:52430
HP:0011446	Abnormality of higher mental function	161582	DNAAF4	OMIM:127700
HP:0011446	Abnormality of higher mental function	6916	TBXAS1	ORPHA:1802
HP:0011446	Abnormality of higher mental function	7852	CXCR4	ORPHA:51636
HP:0011446	Abnormality of higher mental function	7040	TGFB1	ORPHA:1328
HP:0011446	Abnormality of higher mental function	2624	GATA2	ORPHA:3226
HP:0011446	Abnormality of higher mental function	2312	FLG	ORPHA:461
HP:0011446	Abnormality of higher mental function	23175	LPIN1	ORPHA:99845
HP:0011446	Abnormality of higher mental function	84876	ORAI1	ORPHA:3204
HP:0011446	Abnormality of higher mental function	6786	STIM1	ORPHA:3204
HP:0011446	Abnormality of higher mental function	92609	TIMM50	ORPHA:505216
HP:0011446	Abnormality of higher mental function	1909	EDNRA	OMIM:157300
HP:0011446	Abnormality of higher mental function	2099	ESR1	OMIM:157300
HP:0011446	Abnormality of higher mental function	7124	TNF	OMIM:157300
HP:0011446	Abnormality of higher mental function	51399	TRAPPC4	OMIM:618741
HP:0011446	Abnormality of higher mental function	7360	UGP2	OMIM:618744
HP:0011446	Abnormality of higher mental function	53616	ADAM22	OMIM:617933
HP:0011446	Abnormality of higher mental function	128869	PIGU	OMIM:618590
HP:0011446	Abnormality of higher mental function	63908	NAPB	OMIM:620033
HP:0011446	Abnormality of higher mental function	6709	SPTAN1	OMIM:613477
HP:0011446	Abnormality of higher mental function	7965	AIMP2	OMIM:618006
HP:0011446	Abnormality of higher mental function	11342	RNF13	OMIM:618379
HP:0011446	Abnormality of higher mental function	11342	RNF13	ORPHA:544503
HP:0011446	Abnormality of higher mental function	4905	NSF	OMIM:619340
HP:0011446	Abnormality of higher mental function	54681	P4HTM	OMIM:618493
HP:0011446	Abnormality of higher mental function	6812	STXBP1	OMIM:612164
HP:0011446	Abnormality of higher mental function	22931	RAB18	OMIM:614222
HP:0011446	Abnormality of higher mental function	56270	WDR45B	OMIM:617977
HP:0011446	Abnormality of higher mental function	2571	GAD1	OMIM:619124
HP:0011446	Abnormality of higher mental function	51124	IER3IP1	OMIM:614231
HP:0011446	Abnormality of higher mental function	55704	CCDC88A	OMIM:617507
HP:0011446	Abnormality of higher mental function	100506658	OCLN	OMIM:251290
HP:0011446	Abnormality of higher mental function	471	ATIC	OMIM:608688
HP:0011446	Abnormality of higher mental function	5296	PIK3R2	OMIM:603387
HP:0011446	Abnormality of higher mental function	51294	PCDH12	OMIM:251280
HP:0011446	Abnormality of higher mental function	58497	PRUNE1	OMIM:617481
HP:0011446	Abnormality of higher mental function	54344	DPM3	ORPHA:263494
HP:0011446	Abnormality of higher mental function	3329	HSPD1	OMIM:612233
HP:0011446	Abnormality of higher mental function	10695	CNPY3	OMIM:617929
HP:0011446	Abnormality of higher mental function	5286	PIK3C2A	ORPHA:557003
HP:0011446	Abnormality of higher mental function	55617	TASP1	OMIM:618950
HP:0011446	Abnormality of higher mental function	5376	PMP22	ORPHA:98916
HP:0011446	Abnormality of higher mental function	9326	ZNHIT3	ORPHA:2836
HP:0011446	Abnormality of higher mental function	7067	THRA	OMIM:614450
HP:0011446	Abnormality of higher mental function	54872	PIGG	ORPHA:488635
HP:0011446	Abnormality of higher mental function	4038	LRP4	ORPHA:98913
HP:0011446	Abnormality of higher mental function	1140	CHRNB1	ORPHA:98913
HP:0011446	Abnormality of higher mental function	1144	CHRND	ORPHA:98913
HP:0011446	Abnormality of higher mental function	221264	AK9	ORPHA:98913
HP:0011446	Abnormality of higher mental function	5138	PDE2A	OMIM:619150
HP:0011446	Abnormality of higher mental function	27316	RBMX	OMIM:300238
HP:0011446	Abnormality of higher mental function	50651	SLC45A1	OMIM:617532
HP:0011446	Abnormality of higher mental function	5238	PGM3	ORPHA:443811
HP:0011446	Abnormality of higher mental function	54968	TMEM70	ORPHA:1194
HP:0011446	Abnormality of higher mental function	7552	ZNF711	OMIM:300803
HP:0011446	Abnormality of higher mental function	56997	COQ8A	ORPHA:139485
HP:0011446	Abnormality of higher mental function	2192	FBLN1	ORPHA:404451
HP:0011446	Abnormality of higher mental function	84992	PIGY	ORPHA:247262
HP:0011446	Abnormality of higher mental function	84720	PIGO	ORPHA:247262
HP:0011446	Abnormality of higher mental function	93210	PGAP3	ORPHA:247262
HP:0011446	Abnormality of higher mental function	284098	PIGW	ORPHA:247262
HP:0011446	Abnormality of higher mental function	55650	PIGV	ORPHA:247262
HP:0011446	Abnormality of higher mental function	9487	PIGL	ORPHA:247262
HP:0011446	Abnormality of higher mental function	9968	MED12	ORPHA:93932
HP:0011446	Abnormality of higher mental function	343641	TGM6	ORPHA:276193
HP:0011446	Abnormality of higher mental function	51651	PTRH2	ORPHA:456312
HP:0011446	Abnormality of higher mental function	51651	PTRH2	OMIM:616263
HP:0011446	Abnormality of higher mental function	10352	WARS2	ORPHA:572798
HP:0011446	Abnormality of higher mental function	7291	TWIST1	OMIM:101400
HP:0011446	Abnormality of higher mental function	7291	TWIST1	ORPHA:794
HP:0011446	Abnormality of higher mental function	2746	GLUD1	ORPHA:35878
HP:0011446	Abnormality of higher mental function	8239	USP9X	ORPHA:480880
HP:0011446	Abnormality of higher mental function	111	ADCY5	OMIM:619651
HP:0011446	Abnormality of higher mental function	2961	GTF2E2	OMIM:616943
HP:0011446	Abnormality of higher mental function	4556	MT-TE	ORPHA:2596
HP:0011446	Abnormality of higher mental function	10682	EBP	OMIM:302960
HP:0011446	Abnormality of higher mental function	3798	KIF5A	ORPHA:100991
HP:0011446	Abnormality of higher mental function	51117	COQ4	OMIM:616276
HP:0011446	Abnormality of higher mental function	2261	FGFR3	ORPHA:794
HP:0011446	Abnormality of higher mental function	10765	KDM5B	OMIM:618109
HP:0011446	Abnormality of higher mental function	10586	MAB21L2	OMIM:615877
HP:0011446	Abnormality of higher mental function	1950	EGF	OMIM:611718
HP:0011446	Abnormality of higher mental function	91147	TMEM67	OMIM:216360
HP:0011446	Abnormality of higher mental function	91147	TMEM67	ORPHA:1454
HP:0011446	Abnormality of higher mental function	6301	SARS1	OMIM:617709
HP:0011446	Abnormality of higher mental function	84679	SLC9A7	OMIM:301024
HP:0011446	Abnormality of higher mental function	4810	NHS	OMIM:302350
HP:0011446	Abnormality of higher mental function	24140	FTSJ1	OMIM:309549
HP:0011446	Abnormality of higher mental function	6597	SMARCA4	ORPHA:1465
HP:0011446	Abnormality of higher mental function	6598	SMARCB1	ORPHA:1465
HP:0011446	Abnormality of higher mental function	6659	SOX4	ORPHA:1465
HP:0011446	Abnormality of higher mental function	8289	ARID1A	ORPHA:1465
HP:0011446	Abnormality of higher mental function	5977	DPF2	ORPHA:1465
HP:0011446	Abnormality of higher mental function	6602	SMARCD1	ORPHA:1465
HP:0011446	Abnormality of higher mental function	196528	ARID2	ORPHA:1465
HP:0011446	Abnormality of higher mental function	6605	SMARCE1	ORPHA:1465
HP:0011446	Abnormality of higher mental function	64093	SMOC1	ORPHA:1106
HP:0011446	Abnormality of higher mental function	23322	RPGRIP1L	ORPHA:1454
HP:0011446	Abnormality of higher mental function	57545	CC2D2A	ORPHA:1454
HP:0011446	Abnormality of higher mental function	5723	PSPH	ORPHA:79350
HP:0011446	Abnormality of higher mental function	9791	PTDSS1	OMIM:151050
HP:0011446	Abnormality of higher mental function	8812	CCNK	OMIM:618147
HP:0011446	Abnormality of higher mental function	27107	ZBTB11	OMIM:618383
HP:0011446	Abnormality of higher mental function	131669	UROC1	OMIM:276880
HP:0011446	Abnormality of higher mental function	10283	CWC27	ORPHA:166035
HP:0011446	Abnormality of higher mental function	953	ENTPD1	OMIM:615683
HP:0011446	Abnormality of higher mental function	9918	NCAPD2	OMIM:617983
HP:0011446	Abnormality of higher mental function	55755	CDK5RAP2	OMIM:604804
HP:0011446	Abnormality of higher mental function	6472	SHMT2	OMIM:619121
HP:0011446	Abnormality of higher mental function	5075	PAX1	OMIM:615560
HP:0011446	Abnormality of higher mental function	29123	ANKRD11	ORPHA:261250
HP:0011446	Abnormality of higher mental function	23397	NCAPH	OMIM:617985
HP:0011446	Abnormality of higher mental function	8450	CUL4B	ORPHA:85293
HP:0011446	Abnormality of higher mental function	5495	PPM1B	ORPHA:163693
HP:0011446	Abnormality of higher mental function	6519	SLC3A1	ORPHA:163693
HP:0011446	Abnormality of higher mental function	9581	PREPL	ORPHA:163693
HP:0011446	Abnormality of higher mental function	79823	CAMKMT	ORPHA:163693
HP:0011446	Abnormality of higher mental function	54888	NSUN2	OMIM:611091
HP:0011446	Abnormality of higher mental function	84668	HYCC1	ORPHA:85163
HP:0011446	Abnormality of higher mental function	64131	XYLT1	ORPHA:370930
HP:0011446	Abnormality of higher mental function	51109	RDH11	ORPHA:436245
HP:0011446	Abnormality of higher mental function	10369	CACNG2	OMIM:614256
HP:0011446	Abnormality of higher mental function	284217	LAMA1	ORPHA:370022
HP:0011446	Abnormality of higher mental function	1497	CTNS	OMIM:219800
HP:0011446	Abnormality of higher mental function	26277	TINF2	OMIM:268130
HP:0011446	Abnormality of higher mental function	64849	SLC13A3	OMIM:618384
HP:0011446	Abnormality of higher mental function	3028	HSD17B10	OMIM:300438
HP:0011446	Abnormality of higher mental function	100151683	RNU4ATAC	OMIM:210710
HP:0011446	Abnormality of higher mental function	5873	RAB27A	OMIM:607624
HP:0011446	Abnormality of higher mental function	5805	PTS	OMIM:261640
HP:0011446	Abnormality of higher mental function	1537	CYC1	OMIM:615453
HP:0011446	Abnormality of higher mental function	125988	MICOS13	OMIM:618329
HP:0011446	Abnormality of higher mental function	57192	MCOLN1	OMIM:252650
HP:0011446	Abnormality of higher mental function	10715	CERS1	OMIM:616230
HP:0011446	Abnormality of higher mental function	5860	QDPR	OMIM:261630
HP:0011446	Abnormality of higher mental function	9445	ITM2B	OMIM:176500
HP:0011446	Abnormality of higher mental function	4072	EPCAM	ORPHA:144
HP:0011446	Abnormality of higher mental function	4292	MLH1	ORPHA:144
HP:0011446	Abnormality of higher mental function	5395	PMS2	ORPHA:144
HP:0011446	Abnormality of higher mental function	27030	MLH3	ORPHA:144
HP:0011446	Abnormality of higher mental function	22909	FAN1	ORPHA:144
HP:0011446	Abnormality of higher mental function	2956	MSH6	ORPHA:144
HP:0011446	Abnormality of higher mental function	5378	PMS1	ORPHA:144
HP:0011446	Abnormality of higher mental function	4436	MSH2	ORPHA:144
HP:0011446	Abnormality of higher mental function	4884	NPTX1	OMIM:620158
HP:0011446	Abnormality of higher mental function	57338	JPH3	ORPHA:98934
HP:0011446	Abnormality of higher mental function	57338	JPH3	OMIM:606438
HP:0011446	Abnormality of higher mental function	8622	PDE8B	ORPHA:189439
HP:0011446	Abnormality of higher mental function	84231	TRAF7	ORPHA:2495
HP:0011446	Abnormality of higher mental function	9213	XPR1	OMIM:616413
HP:0011446	Abnormality of higher mental function	79798	ARMC5	ORPHA:189427
HP:0011446	Abnormality of higher mental function	1356	CP	ORPHA:48818
HP:0011446	Abnormality of higher mental function	6310	ATXN1	ORPHA:98755
HP:0011446	Abnormality of higher mental function	197322	ACSF3	ORPHA:289504
HP:0011446	Abnormality of higher mental function	4615	MYD88	ORPHA:33226
HP:0011446	Abnormality of higher mental function	51308	REEP2	ORPHA:401849
HP:0011446	Abnormality of higher mental function	1893	ECM1	OMIM:247100
HP:0011446	Abnormality of higher mental function	27183	VPS4A	OMIM:619273
HP:0011446	Abnormality of higher mental function	23394	ADNP	ORPHA:404448
HP:0011446	Abnormality of higher mental function	8367	H4C5	OMIM:619950
HP:0011446	Abnormality of higher mental function	23019	CNOT1	OMIM:619033
HP:0011446	Abnormality of higher mental function	7253	TSHR	ORPHA:99819
HP:0011446	Abnormality of higher mental function	7253	TSHR	ORPHA:424
HP:0011446	Abnormality of higher mental function	55777	MBD5	ORPHA:228402
HP:0011446	Abnormality of higher mental function	84942	WDR73	OMIM:251300
HP:0011446	Abnormality of higher mental function	1119	CHKA	OMIM:620023
HP:0011446	Abnormality of higher mental function	1161	ERCC8	ORPHA:90321
HP:0011446	Abnormality of higher mental function	2072	ERCC4	ORPHA:90321
HP:0011446	Abnormality of higher mental function	2074	ERCC6	ORPHA:90321
HP:0011446	Abnormality of higher mental function	55209	SETD5	ORPHA:404440
HP:0011446	Abnormality of higher mental function	10479	SLC9A6	OMIM:300243
HP:0011446	Abnormality of higher mental function	3060	HCRT	ORPHA:83465
HP:0011446	Abnormality of higher mental function	3060	HCRT	ORPHA:2073
HP:0011446	Abnormality of higher mental function	22891	ZNF365	ORPHA:83465
HP:0011446	Abnormality of higher mental function	22891	ZNF365	ORPHA:2073
HP:0011446	Abnormality of higher mental function	3123	HLA-DRB1	ORPHA:83465
HP:0011446	Abnormality of higher mental function	3123	HLA-DRB1	ORPHA:2073
HP:0011446	Abnormality of higher mental function	116931	MED12L	OMIM:618872
HP:0011446	Abnormality of higher mental function	2314	FLII	ORPHA:819
HP:0011446	Abnormality of higher mental function	23096	IQSEC2	ORPHA:819
HP:0011446	Abnormality of higher mental function	10522	DEAF1	ORPHA:819
HP:0011446	Abnormality of higher mental function	10522	DEAF1	OMIM:615828
HP:0011446	Abnormality of higher mental function	10522	DEAF1	OMIM:617171
HP:0011446	Abnormality of higher mental function	10522	DEAF1	ORPHA:468620
HP:0011446	Abnormality of higher mental function	57589	RIC1	OMIM:618761
HP:0011446	Abnormality of higher mental function	288	ANK3	OMIM:615493
HP:0011446	Abnormality of higher mental function	288	ANK3	ORPHA:356996
HP:0011446	Abnormality of higher mental function	55870	ASH1L	OMIM:617796
HP:0011446	Abnormality of higher mental function	9739	SETD1A	OMIM:619056
HP:0011446	Abnormality of higher mental function	80204	FBXO11	OMIM:618089
HP:0011446	Abnormality of higher mental function	1757	SARDH	ORPHA:3129
HP:0011446	Abnormality of higher mental function	7021	TFAP2B	ORPHA:46627
HP:0011446	Abnormality of higher mental function	816	CAMK2B	OMIM:617799
HP:0011446	Abnormality of higher mental function	7528	YY1	OMIM:617557
HP:0011446	Abnormality of higher mental function	3064	HTT	OMIM:617435
HP:0011446	Abnormality of higher mental function	3423	IDS	ORPHA:217085
HP:0011446	Abnormality of higher mental function	3423	IDS	ORPHA:217093
HP:0011446	Abnormality of higher mental function	7080	NKX2-1	ORPHA:209905
HP:0011446	Abnormality of higher mental function	7080	NKX2-1	OMIM:610978
HP:0011446	Abnormality of higher mental function	9839	ZEB2	ORPHA:261552
HP:0011446	Abnormality of higher mental function	9839	ZEB2	ORPHA:261537
HP:0011446	Abnormality of higher mental function	57190	SELENON	ORPHA:2020
HP:0011446	Abnormality of higher mental function	58	ACTA1	ORPHA:2020
HP:0011446	Abnormality of higher mental function	4633	MYL2	ORPHA:2020
HP:0011446	Abnormality of higher mental function	3679	ITGA7	ORPHA:2020
HP:0011446	Abnormality of higher mental function	7169	TPM2	ORPHA:2020
HP:0011446	Abnormality of higher mental function	9200	HACD1	ORPHA:2020
HP:0011446	Abnormality of higher mental function	7170	TPM3	ORPHA:2020
HP:0011446	Abnormality of higher mental function	51776	MAP3K20	ORPHA:2020
HP:0011446	Abnormality of higher mental function	833	CARS1	OMIM:618891
HP:0011446	Abnormality of higher mental function	790955	UQCC3	OMIM:616111
HP:0011446	Abnormality of higher mental function	3340	NDST1	OMIM:616116
HP:0011446	Abnormality of higher mental function	23230	VPS13A	ORPHA:2388
HP:0011446	Abnormality of higher mental function	23314	SATB2	OMIM:612313
HP:0011446	Abnormality of higher mental function	23314	SATB2	ORPHA:576283
HP:0011446	Abnormality of higher mental function	23314	SATB2	ORPHA:251019
HP:0011446	Abnormality of higher mental function	25942	SIN3A	OMIM:613406
HP:0011446	Abnormality of higher mental function	175	AGA	ORPHA:93
HP:0011446	Abnormality of higher mental function	7840	ALMS1	ORPHA:64
HP:0011446	Abnormality of higher mental function	9131	AIFM1	ORPHA:101078
HP:0011446	Abnormality of higher mental function	1621	DBH	ORPHA:230
HP:0011446	Abnormality of higher mental function	57680	CHD8	OMIM:615032
HP:0011446	Abnormality of higher mental function	2321	FLT1	ORPHA:275555
HP:0011446	Abnormality of higher mental function	219736	STOX1	ORPHA:275555
HP:0011446	Abnormality of higher mental function	10699	CORIN	ORPHA:275555
HP:0011446	Abnormality of higher mental function	493856	CISD2	ORPHA:3463
HP:0011446	Abnormality of higher mental function	7466	WFS1	ORPHA:3463
HP:0011446	Abnormality of higher mental function	8659	ALDH4A1	ORPHA:79101
HP:0011446	Abnormality of higher mental function	22859	ADGRL1	OMIM:620065
HP:0011446	Abnormality of higher mental function	25814	ATXN10	ORPHA:98761
HP:0011446	Abnormality of higher mental function	51611	DPH5	OMIM:620070
HP:0011446	Abnormality of higher mental function	55210	ATAD3A	ORPHA:496790
HP:0011446	Abnormality of higher mental function	57459	GATAD2B	ORPHA:363686
HP:0011446	Abnormality of higher mental function	26137	ZBTB20	OMIM:259050
HP:0011446	Abnormality of higher mental function	4669	NAGLU	OMIM:616491
HP:0011446	Abnormality of higher mental function	4669	NAGLU	OMIM:252920
HP:0011446	Abnormality of higher mental function	53335	BCL11A	OMIM:617101
HP:0011446	Abnormality of higher mental function	6942	TCF20	OMIM:618430
HP:0011446	Abnormality of higher mental function	256471	MFSD8	OMIM:610951
HP:0011446	Abnormality of higher mental function	3662	IRF4	ORPHA:3452
HP:0011446	Abnormality of higher mental function	7443	VRK1	OMIM:607596
HP:0011446	Abnormality of higher mental function	51085	MLXIPL	OMIM:194050
HP:0011446	Abnormality of higher mental function	2006	ELN	OMIM:194050
HP:0011446	Abnormality of higher mental function	55343	SLC35C1	ORPHA:99843
HP:0011446	Abnormality of higher mental function	4692	NDN	ORPHA:98754
HP:0011446	Abnormality of higher mental function	4692	NDN	ORPHA:177904
HP:0011446	Abnormality of higher mental function	4692	NDN	ORPHA:177901
HP:0011446	Abnormality of higher mental function	54551	MAGEL2	ORPHA:98754
HP:0011446	Abnormality of higher mental function	54551	MAGEL2	OMIM:176270
HP:0011446	Abnormality of higher mental function	54551	MAGEL2	ORPHA:177904
HP:0011446	Abnormality of higher mental function	54551	MAGEL2	ORPHA:177901
HP:0011446	Abnormality of higher mental function	4948	OCA2	ORPHA:98754
HP:0011446	Abnormality of higher mental function	4948	OCA2	ORPHA:177904
HP:0011446	Abnormality of higher mental function	4948	OCA2	ORPHA:177901
HP:0011446	Abnormality of higher mental function	7030	TFE3	OMIM:301066
HP:0011446	Abnormality of higher mental function	7994	KAT6A	OMIM:616268
HP:0011446	Abnormality of higher mental function	10165	SLC25A13	ORPHA:247585
HP:0011446	Abnormality of higher mental function	3458	IFNG	ORPHA:805
HP:0011446	Abnormality of higher mental function	7248	TSC1	ORPHA:805
HP:0011446	Abnormality of higher mental function	7249	TSC2	ORPHA:805
HP:0011446	Abnormality of higher mental function	51574	LARP7	ORPHA:319671
HP:0011446	Abnormality of higher mental function	5836	PYGL	ORPHA:369
HP:0011446	Abnormality of higher mental function	55023	PHIP	ORPHA:589905
HP:0011446	Abnormality of higher mental function	1917	EEF1A2	OMIM:616393
HP:0011446	Abnormality of higher mental function	5256	PHKA2	ORPHA:264580
HP:0011446	Abnormality of higher mental function	5261	PHKG2	ORPHA:264580
HP:0011446	Abnormality of higher mental function	10801	SEPTIN9	ORPHA:2901
HP:0011446	Abnormality of higher mental function	22907	DHX30	OMIM:617804
HP:0011446	Abnormality of higher mental function	57724	EPG5	ORPHA:1493
HP:0011446	Abnormality of higher mental function	3736	KCNA1	ORPHA:1934
HP:0011446	Abnormality of higher mental function	9091	PIGQ	ORPHA:1934
HP:0011446	Abnormality of higher mental function	2775	GNAO1	ORPHA:1934
HP:0011446	Abnormality of higher mental function	81603	TRIM8	ORPHA:1934
HP:0011446	Abnormality of higher mental function	2902	GRIN1	ORPHA:1934
HP:0011446	Abnormality of higher mental function	2902	GRIN1	ORPHA:208447
HP:0011446	Abnormality of higher mental function	79751	SLC25A22	ORPHA:1934
HP:0011446	Abnormality of higher mental function	150094	SIK1	ORPHA:1934
HP:0011446	Abnormality of higher mental function	8573	CASK	ORPHA:1934
HP:0011446	Abnormality of higher mental function	23312	DMXL2	ORPHA:1934
HP:0011446	Abnormality of higher mental function	2917	GRM7	ORPHA:1934
HP:0011446	Abnormality of higher mental function	170302	ARX	ORPHA:1934
HP:0011446	Abnormality of higher mental function	11284	PNKP	ORPHA:1934
HP:0011446	Abnormality of higher mental function	6326	SCN2A	ORPHA:1934
HP:0011446	Abnormality of higher mental function	51227	PIGP	ORPHA:1934
HP:0011446	Abnormality of higher mental function	6324	SCN1B	ORPHA:1934
HP:0011446	Abnormality of higher mental function	4761	NEUROD2	ORPHA:1934
HP:0011446	Abnormality of higher mental function	80816	ASXL3	ORPHA:352577
HP:0011446	Abnormality of higher mental function	10075	HUWE1	OMIM:309590
HP:0011446	Abnormality of higher mental function	6513	SLC2A1	ORPHA:71277
HP:0011446	Abnormality of higher mental function	6513	SLC2A1	OMIM:606777
HP:0011446	Abnormality of higher mental function	1203	CLN5	ORPHA:228360
HP:0011446	Abnormality of higher mental function	22827	PUF60	ORPHA:508498
HP:0011446	Abnormality of higher mental function	6448	SGSH	OMIM:252900
HP:0011446	Abnormality of higher mental function	9759	HDAC4	OMIM:619797
HP:0011446	Abnormality of higher mental function	9759	HDAC4	ORPHA:1001
HP:0011446	Abnormality of higher mental function	9759	HDAC4	OMIM:600430
HP:0011446	Abnormality of higher mental function	1859	DYRK1A	ORPHA:268261
HP:0011446	Abnormality of higher mental function	10785	WDR4	OMIM:618347
HP:0011446	Abnormality of higher mental function	3067	HDC	OMIM:137580
HP:0011446	Abnormality of higher mental function	114798	SLITRK1	OMIM:137580
HP:0011446	Abnormality of higher mental function	85358	SHANK3	OMIM:606232
HP:0011446	Abnormality of higher mental function	85358	SHANK3	ORPHA:48652
HP:0011446	Abnormality of higher mental function	6571	SLC18A2	ORPHA:352649
HP:0011446	Abnormality of higher mental function	6571	SLC18A2	OMIM:618049
HP:0011446	Abnormality of higher mental function	26115	TANC2	OMIM:618906
HP:0011446	Abnormality of higher mental function	7681	MKRN3	OMIM:176270
HP:0011446	Abnormality of higher mental function	3653	IPW	OMIM:176270
HP:0011446	Abnormality of higher mental function	791114	PWRN1	OMIM:176270
HP:0011446	Abnormality of higher mental function	100033413	SNORD116-1	OMIM:176270
HP:0011446	Abnormality of higher mental function	8924	HERC2	OMIM:176270
HP:0011446	Abnormality of higher mental function	145624	PWAR1	OMIM:176270
HP:0011446	Abnormality of higher mental function	23742	NPAP1	OMIM:176270
HP:0011446	Abnormality of higher mental function	338433	SNORD115-1	OMIM:176270
HP:0011446	Abnormality of higher mental function	26580	BSCL2	ORPHA:363400
HP:0011446	Abnormality of higher mental function	26275	HIBCH	ORPHA:88639
HP:0011446	Abnormality of higher mental function	79868	ALG13	OMIM:300884
HP:0011446	Abnormality of higher mental function	29998	BICRA	OMIM:619325
HP:0011446	Abnormality of higher mental function	112939	NACC1	ORPHA:500545
HP:0011446	Abnormality of higher mental function	112939	NACC1	OMIM:617393
HP:0011446	Abnormality of higher mental function	1644	DDC	OMIM:608643
HP:0011446	Abnormality of higher mental function	11152	WDR45	ORPHA:329284
HP:0011446	Abnormality of higher mental function	443	ASPA	ORPHA:314911
HP:0011446	Abnormality of higher mental function	4297	KMT2A	OMIM:605130
HP:0011446	Abnormality of higher mental function	2332	FMR1	ORPHA:449291
HP:0011446	Abnormality of higher mental function	6601	SMARCC2	OMIM:618362
HP:0011446	Abnormality of higher mental function	8831	SYNGAP1	ORPHA:544254
HP:0011446	Abnormality of higher mental function	8120	AP3B2	OMIM:617276
HP:0011446	Abnormality of higher mental function	2743	GLRB	ORPHA:3197
HP:0011446	Abnormality of higher mental function	2741	GLRA1	ORPHA:3197
HP:0011446	Abnormality of higher mental function	10243	GPHN	ORPHA:3197
HP:0011446	Abnormality of higher mental function	84896	ATAD1	ORPHA:3197
HP:0011446	Abnormality of higher mental function	9152	SLC6A5	ORPHA:3197
HP:0011446	Abnormality of higher mental function	10524	KAT5	OMIM:619103
HP:0011446	Abnormality of higher mental function	2009	EML1	OMIM:600348
HP:0011446	Abnormality of higher mental function	8802	SUCLG1	ORPHA:17
HP:0011446	Abnormality of higher mental function	80185	TTI2	OMIM:615541
HP:0011446	Abnormality of higher mental function	80185	TTI2	ORPHA:391307
HP:0011446	Abnormality of higher mental function	23152	CIC	OMIM:617600
HP:0011446	Abnormality of higher mental function	128637	TBC1D20	OMIM:615663
HP:0011446	Abnormality of higher mental function	6304	SATB1	OMIM:619228
HP:0011446	Abnormality of higher mental function	6304	SATB1	OMIM:619229
HP:0011446	Abnormality of higher mental function	4287	ATXN3	ORPHA:276238
HP:0011446	Abnormality of higher mental function	4287	ATXN3	ORPHA:276244
HP:0011446	Abnormality of higher mental function	4287	ATXN3	ORPHA:276241
HP:0011446	Abnormality of higher mental function	6697	SPR	OMIM:612716
HP:0011446	Abnormality of higher mental function	6697	SPR	ORPHA:70594
HP:0011446	Abnormality of higher mental function	23476	BRD4	ORPHA:199
HP:0011446	Abnormality of higher mental function	9126	SMC3	ORPHA:199
HP:0011446	Abnormality of higher mental function	25836	NIPBL	ORPHA:199
HP:0011446	Abnormality of higher mental function	55869	HDAC8	ORPHA:199
HP:0011446	Abnormality of higher mental function	5885	RAD21	ORPHA:199
HP:0011446	Abnormality of higher mental function	10664	CTCF	ORPHA:363611
HP:0011446	Abnormality of higher mental function	11019	LIAS	OMIM:614462
HP:0011446	Abnormality of higher mental function	6711	SPTBN1	OMIM:619475
HP:0011446	Abnormality of higher mental function	2643	GCH1	ORPHA:98808
HP:0011446	Abnormality of higher mental function	4929	NR4A2	ORPHA:98808
HP:0011446	Abnormality of higher mental function	4929	NR4A2	OMIM:168600
HP:0011446	Abnormality of higher mental function	3615	IMPDH2	ORPHA:98808
HP:0011446	Abnormality of higher mental function	51091	SEPSECS	OMIM:613811
HP:0011446	Abnormality of higher mental function	51091	SEPSECS	ORPHA:2524
HP:0011446	Abnormality of higher mental function	259232	NALCN	ORPHA:371364
HP:0011446	Abnormality of higher mental function	285175	UNC80	ORPHA:371364
HP:0011446	Abnormality of higher mental function	3425	IDUA	ORPHA:93473
HP:0011446	Abnormality of higher mental function	25914	RTTN	ORPHA:468631
HP:0011446	Abnormality of higher mental function	11198	SUPT16H	OMIM:619480
HP:0011446	Abnormality of higher mental function	1457	CSNK2A1	OMIM:617062
HP:0011446	Abnormality of higher mental function	3594	IL12RB1	ORPHA:186
HP:0011446	Abnormality of higher mental function	23534	TNPO3	ORPHA:186
HP:0011446	Abnormality of higher mental function	3592	IL12A	ORPHA:186
HP:0011446	Abnormality of higher mental function	6689	SPIB	ORPHA:186
HP:0011446	Abnormality of higher mental function	5450	POU2AF1	ORPHA:186
HP:0011446	Abnormality of higher mental function	9966	TNFSF15	ORPHA:186
HP:0011446	Abnormality of higher mental function	79258	MMEL1	ORPHA:186
HP:0011446	Abnormality of higher mental function	3663	IRF5	ORPHA:186
HP:0011446	Abnormality of higher mental function	100147744	RNU7-1	OMIM:619487
HP:0011446	Abnormality of higher mental function	2670	GFAP	ORPHA:363722
HP:0011446	Abnormality of higher mental function	6857	SYT1	ORPHA:522077
HP:0011446	Abnormality of higher mental function	7204	TRIO	ORPHA:476126
HP:0011446	Abnormality of higher mental function	23112	TNRC6B	OMIM:619243
HP:0011446	Abnormality of higher mental function	91875	TTC5	OMIM:619244
HP:0011446	Abnormality of higher mental function	283989	TSEN54	ORPHA:2524
HP:0011446	Abnormality of higher mental function	116461	TSEN15	ORPHA:2524
HP:0011446	Abnormality of higher mental function	79042	TSEN34	ORPHA:2524
HP:0011446	Abnormality of higher mental function	80746	TSEN2	ORPHA:2524
HP:0011446	Abnormality of higher mental function	2890	GRIA1	OMIM:619927
HP:0011446	Abnormality of higher mental function	2890	GRIA1	OMIM:619931
HP:0011446	Abnormality of higher mental function	118924	FRA10AC1	OMIM:620113
HP:0011446	Abnormality of higher mental function	1512	CTSH	ORPHA:2073
HP:0011446	Abnormality of higher mental function	5032	P2RY11	ORPHA:2073
HP:0011446	Abnormality of higher mental function	4340	MOG	ORPHA:2073
HP:0011446	Abnormality of higher mental function	7292	TNFSF4	ORPHA:2073
HP:0011446	Abnormality of higher mental function	5879	RAC1	OMIM:617751
HP:0011446	Abnormality of higher mental function	5538	PPT1	OMIM:256730
HP:0011446	Abnormality of higher mental function	5455	POU3F3	OMIM:618604
HP:0011446	Abnormality of higher mental function	9439	MED23	OMIM:614249
HP:0011446	Abnormality of higher mental function	5430	POLR2A	OMIM:618603
HP:0011446	Abnormality of higher mental function	138050	HGSNAT	OMIM:252930
HP:0011446	Abnormality of higher mental function	4693	NDP	ORPHA:649
HP:0011446	Abnormality of higher mental function	10079	ATP9A	OMIM:620242
HP:0011446	Abnormality of higher mental function	8665	EIF3F	OMIM:618295
HP:0011446	Abnormality of higher mental function	3832	KIF11	OMIM:152950
HP:0011446	Abnormality of higher mental function	284361	EMC10	OMIM:619264
HP:0011446	Abnormality of higher mental function	55367	PIDD1	OMIM:619827
HP:0011446	Abnormality of higher mental function	2747	GLUD2	OMIM:168600
HP:0011446	Abnormality of higher mental function	126	ADH1C	OMIM:168600
HP:0011446	Abnormality of higher mental function	6908	TBP	OMIM:168600
HP:0011446	Abnormality of higher mental function	4576	MT-TT	OMIM:168600
HP:0011446	Abnormality of higher mental function	9627	SNCAIP	OMIM:168600
HP:0011446	Abnormality of higher mental function	6311	ATXN2	OMIM:168600
HP:0011446	Abnormality of higher mental function	6315	ATXN8OS	OMIM:168600
HP:0011446	Abnormality of higher mental function	128674	PROKR2	ORPHA:3157
HP:0011446	Abnormality of higher mental function	6657	SOX2	ORPHA:3157
HP:0011446	Abnormality of higher mental function	6658	SOX3	ORPHA:3157
HP:0011446	Abnormality of higher mental function	9915	ARNT2	ORPHA:3157
HP:0011446	Abnormality of higher mental function	8820	HESX1	ORPHA:3157
HP:0011446	Abnormality of higher mental function	5015	OTX2	ORPHA:3157
HP:0011446	Abnormality of higher mental function	3073	HEXA	OMIM:272800
HP:0011446	Abnormality of higher mental function	22796	COG2	ORPHA:435934
HP:0011446	Abnormality of higher mental function	5354	PLP1	OMIM:312080
HP:0011446	Abnormality of higher mental function	23545	ATP6V0A2	ORPHA:357074
HP:0011446	Abnormality of higher mental function	523	ATP6V1A	ORPHA:357074
HP:0011446	Abnormality of higher mental function	529	ATP6V1E1	ORPHA:357074
HP:0011446	Abnormality of higher mental function	50484	RRM2B	ORPHA:329336
HP:0011446	Abnormality of higher mental function	246243	RNASEH1	ORPHA:329336
HP:0011446	Abnormality of higher mental function	6334	SCN8A	ORPHA:306
HP:0011446	Abnormality of higher mental function	3785	KCNQ2	ORPHA:306
HP:0011446	Abnormality of higher mental function	3786	KCNQ3	ORPHA:306
HP:0011446	Abnormality of higher mental function	2581	GALC	ORPHA:206436
HP:0011446	Abnormality of higher mental function	5660	PSAP	ORPHA:206436
HP:0011446	Abnormality of higher mental function	9896	FIG4	ORPHA:208441
HP:0011446	Abnormality of higher mental function	9896	FIG4	OMIM:612691
HP:0011446	Abnormality of higher mental function	80331	DNAJC5	OMIM:162350
HP:0011446	Abnormality of higher mental function	25793	FBXO7	ORPHA:171695
HP:0011446	Abnormality of higher mental function	23400	ATP13A2	ORPHA:306674
HP:0011446	Abnormality of higher mental function	7957	EPM2A	OMIM:254780
HP:0011446	Abnormality of higher mental function	7957	EPM2A	ORPHA:501
HP:0011446	Abnormality of higher mental function	378884	NHLRC1	OMIM:254780
HP:0011446	Abnormality of higher mental function	378884	NHLRC1	ORPHA:501
HP:0011446	Abnormality of higher mental function	54982	CLN6	OMIM:204300
HP:0011446	Abnormality of higher mental function	2629	GBA1	ORPHA:411602
HP:0011446	Abnormality of higher mental function	2629	GBA1	OMIM:127750
HP:0011446	Abnormality of higher mental function	23317	DNAJC13	ORPHA:411602
HP:0011446	Abnormality of higher mental function	1981	EIF4G1	ORPHA:411602
HP:0011446	Abnormality of higher mental function	55737	VPS35	ORPHA:411602
HP:0011446	Abnormality of higher mental function	26058	GIGYF2	ORPHA:411602
HP:0011446	Abnormality of higher mental function	1201	CLN3	ORPHA:228346
HP:0011446	Abnormality of higher mental function	6620	SNCB	OMIM:127750
HP:0011446	Abnormality of higher mental function	83480	PUS3	ORPHA:488627
HP:0011446	Abnormality of higher mental function	8131	NPRL3	ORPHA:98820
HP:0011446	Abnormality of higher mental function	10641	NPRL2	ORPHA:98820
HP:0011446	Abnormality of higher mental function	10577	NPC2	OMIM:607625
HP:0011446	Abnormality of higher mental function	55739	NAXD	OMIM:618321
HP:0011446	Abnormality of higher mental function	103	ADAR	OMIM:615010
HP:0011446	Abnormality of higher mental function	103	ADAR	ORPHA:51
HP:0011446	Abnormality of higher mental function	64207	IRF2BPL	OMIM:618088
HP:0011446	Abnormality of higher mental function	4864	NPC1	OMIM:257220
HP:0011446	Abnormality of higher mental function	57679	ALS2	ORPHA:247604
HP:0011446	Abnormality of higher mental function	11160	ERLIN2	ORPHA:247604
HP:0011446	Abnormality of higher mental function	5832	ALDH18A1	ORPHA:447760
HP:0011446	Abnormality of higher mental function	6687	SPG7	ORPHA:35689
HP:0011446	Abnormality of higher mental function	2760	GM2A	ORPHA:309246
HP:0011446	Abnormality of higher mental function	2760	GM2A	OMIM:272750
HP:0011446	Abnormality of higher mental function	57505	AARS2	OMIM:615889
HP:0011446	Abnormality of higher mental function	27010	TPK1	OMIM:614458
HP:0011446	Abnormality of higher mental function	10535	RNASEH2A	ORPHA:51
HP:0011446	Abnormality of higher mental function	84153	RNASEH2C	ORPHA:51
HP:0011446	Abnormality of higher mental function	25939	SAMHD1	ORPHA:51
HP:0011446	Abnormality of higher mental function	79621	RNASEH2B	ORPHA:51
HP:0011446	Abnormality of higher mental function	134353	LSM11	ORPHA:51
HP:0011446	Abnormality of higher mental function	64135	IFIH1	ORPHA:51
HP:0011446	Abnormality of higher mental function	10059	DNM1L	ORPHA:330050
HP:0011446	Abnormality of higher mental function	2903	GRIN2A	OMIM:245570
HP:0011446	Abnormality of higher mental function	2903	GRIN2A	ORPHA:725
HP:0011446	Abnormality of higher mental function	2903	GRIN2A	ORPHA:98818
HP:0011446	Abnormality of higher mental function	3747	KCNC2	OMIM:619913
HP:0011446	Abnormality of higher mental function	79813	EHMT1	ORPHA:96147
HP:0011446	Abnormality of higher mental function	50814	NSDHL	ORPHA:251383
HP:0011446	Abnormality of higher mental function	51816	ADA2	ORPHA:820
HP:0011446	Abnormality of higher mental function	51816	ADA2	OMIM:615688
HP:0011446	Abnormality of higher mental function	6925	TCF4	ORPHA:2896
HP:0011446	Abnormality of higher mental function	7343	UBTF	ORPHA:500180
HP:0011446	Abnormality of higher mental function	84172	POLR1B	ORPHA:861
HP:0011446	Abnormality of higher mental function	9533	POLR1C	ORPHA:861
HP:0011446	Abnormality of higher mental function	51082	POLR1D	ORPHA:861
HP:0011446	Abnormality of higher mental function	6949	TCOF1	ORPHA:861
HP:0011446	Abnormality of higher mental function	6595	SMARCA2	ORPHA:3051
HP:0011446	Abnormality of higher mental function	50485	SMARCAL1	ORPHA:1830
HP:0011446	Abnormality of higher mental function	3897	L1CAM	OMIM:303350
HP:0011446	Abnormality of higher mental function	3897	L1CAM	ORPHA:2466
HP:0011446	Abnormality of higher mental function	150468	CKAP2L	ORPHA:3255
HP:0011446	Abnormality of higher mental function	4952	OCRL	ORPHA:534
HP:0011446	Abnormality of higher mental function	10743	RAI1	ORPHA:1713
HP:0011446	Abnormality of higher mental function	79944	L2HGDH	OMIM:236792
HP:0011446	Abnormality of higher mental function	79944	L2HGDH	ORPHA:79314
HP:0011446	Abnormality of higher mental function	5339	PLEC	ORPHA:257
HP:0011446	Abnormality of higher mental function	4854	NOTCH3	ORPHA:136
HP:0011446	Abnormality of higher mental function	4694	NDUFA1	OMIM:301020
HP:0011446	Abnormality of higher mental function	6331	SCN5A	ORPHA:1344
HP:0011446	Abnormality of higher mental function	4878	NPPA	ORPHA:1344
HP:0011446	Abnormality of higher mental function	201163	FLCN	OMIM:610883
HP:0011446	Abnormality of higher mental function	412	STS	ORPHA:281090
HP:0011446	Abnormality of higher mental function	2260	FGFR1	ORPHA:2396
HP:0011446	Abnormality of higher mental function	3845	KRAS	ORPHA:2396
HP:0011446	Abnormality of higher mental function	5664	PSEN2	ORPHA:1020
HP:0011446	Abnormality of higher mental function	10452	TOMM40	ORPHA:1020
HP:0011446	Abnormality of higher mental function	351	APP	ORPHA:1020
HP:0011446	Abnormality of higher mental function	10347	ABCA7	ORPHA:1020
HP:0011446	Abnormality of higher mental function	6653	SORL1	ORPHA:1020
HP:0011446	Abnormality of higher mental function	23732	FRRS1L	ORPHA:725
HP:0011446	Abnormality of higher mental function	9719	ADAMTSL2	ORPHA:1901
HP:0011446	Abnormality of higher mental function	9509	ADAMTS2	ORPHA:1901
HP:0011446	Abnormality of higher mental function	1312	COMT	ORPHA:567
HP:0011446	Abnormality of higher mental function	221037	JMJD1C	ORPHA:567
HP:0011446	Abnormality of higher mental function	2812	GP1BB	ORPHA:567
HP:0011446	Abnormality of higher mental function	6239	RREB1	ORPHA:567
HP:0011446	Abnormality of higher mental function	6899	TBX1	ORPHA:567
HP:0011446	Abnormality of higher mental function	7290	HIRA	ORPHA:567
HP:0011446	Abnormality of higher mental function	9632	SEC24C	ORPHA:567
HP:0011446	Abnormality of higher mental function	7353	UFD1	ORPHA:567
HP:0011446	Abnormality of higher mental function	421	ARVCF	ORPHA:567
HP:0011446	Abnormality of higher mental function	3119	HLA-DQB1	OMIM:123400
HP:0011446	Abnormality of higher mental function	5621	PRNP	OMIM:123400
HP:0011446	Abnormality of higher mental function	773	CACNA1A	ORPHA:569
HP:0011446	Abnormality of higher mental function	773	CACNA1A	OMIM:141500
HP:0011446	Abnormality of higher mental function	112476	PRRT2	ORPHA:569
HP:0011446	Abnormality of higher mental function	6323	SCN1A	ORPHA:569
HP:0011446	Abnormality of higher mental function	477	ATP1A2	ORPHA:569
HP:0011446	Abnormality of higher mental function	477	ATP1A2	OMIM:602481
HP:0011446	Abnormality of higher mental function	71	ACTG1	ORPHA:2995
HP:0011446	Abnormality of higher mental function	60	ACTB	ORPHA:2995
HP:0011446	Abnormality of higher mental function	54539	NDUFB11	ORPHA:2556
HP:0011446	Abnormality of higher mental function	1349	COX7B	ORPHA:2556
HP:0011446	Abnormality of higher mental function	3052	HCCS	ORPHA:2556
HP:0011446	Abnormality of higher mental function	5654	HTRA1	OMIM:600142
HP:0011446	Abnormality of higher mental function	5649	RELN	ORPHA:101046
HP:0011446	Abnormality of higher mental function	9211	LGI1	ORPHA:101046
HP:0011446	Abnormality of higher mental function	9681	DEPDC5	ORPHA:101046
HP:0011446	Abnormality of higher mental function	11277	TREX1	ORPHA:247691
HP:0011446	Abnormality of higher mental function	26040	SETBP1	OMIM:616078
HP:0011446	Abnormality of higher mental function	139285	AMER1	ORPHA:2780
HP:0011446	Abnormality of higher mental function	4771	NF2	ORPHA:637
HP:0011446	Abnormality of higher mental function	3075	CFH	OMIM:235400
HP:0011446	Abnormality of higher mental function	3078	CFHR1	OMIM:235400
HP:0011446	Abnormality of higher mental function	10878	CFHR3	OMIM:235400
HP:0011446	Abnormality of higher mental function	1278	COL1A2	ORPHA:1899
HP:0011446	Abnormality of higher mental function	1277	COL1A1	ORPHA:1899
HP:0011446	Abnormality of higher mental function	3975	LHX1	ORPHA:261265
HP:0011446	Abnormality of higher mental function	6928	HNF1B	ORPHA:261265
HP:0011446	Abnormality of higher mental function	79853	TM4SF20	OMIM:615432
HP:0011446	Abnormality of higher mental function	9289	ADGRG1	OMIM:615752
HP:0011446	Abnormality of higher mental function	9289	ADGRG1	ORPHA:98889
HP:0011446	Abnormality of higher mental function	9289	ADGRG1	ORPHA:101070
HP:0011446	Abnormality of higher mental function	6696	SPP1	ORPHA:93552
HP:0011446	Abnormality of higher mental function	3654	IRAK1	ORPHA:93552
HP:0011446	Abnormality of higher mental function	5297	PI4KA	ORPHA:98889
HP:0011446	Abnormality of higher mental function	2705	GJB1	ORPHA:101075
HP:0011446	Abnormality of higher mental function	613	BCR	ORPHA:261330
HP:0011446	Abnormality of higher mental function	1399	CRKL	ORPHA:261330
HP:0011446	Abnormality of higher mental function	1641	DCX	ORPHA:2148
HP:0011446	Abnormality of higher mental function	87178	PNPT1	ORPHA:101111
HP:0011446	Abnormality of higher mental function	4099	MAG	OMIM:616680
HP:0011446	Abnormality of higher mental function	55775	TDP1	ORPHA:94124
HP:0011446	Abnormality of higher mental function	5190	PEX6	ORPHA:95433
HP:0011446	Abnormality of higher mental function	6843	VAMP1	ORPHA:251282
HP:0011446	Abnormality of higher mental function	84188	FAR1	ORPHA:447753
HP:0011446	Abnormality of higher mental function	724066	ATXN8	ORPHA:98760
HP:0011446	Abnormality of higher mental function	51218	GLRX5	ORPHA:401866
HP:0011446	Abnormality of higher mental function	492	ATP2B3	ORPHA:314978
HP:0011446	Abnormality of higher mental function	353116	RILPL1	OMIM:619790
HP:0011446	Abnormality of higher mental function	11253	MAN1B1	ORPHA:397941
HP:0011446	Abnormality of higher mental function	22856	CHSY1	ORPHA:363417
HP:0011446	Abnormality of higher mental function	55823	VPS11	OMIM:616683
HP:0011446	Abnormality of higher mental function	55823	VPS11	ORPHA:466934
HP:0011446	Abnormality of higher mental function	2132	EXT2	OMIM:616682
HP:0011446	Abnormality of higher mental function	132	ADK	OMIM:614300
HP:0011446	Abnormality of higher mental function	4719	NDUFS1	OMIM:618226
HP:0011446	Abnormality of higher mental function	25821	MTO1	OMIM:614702
HP:0011446	Abnormality of higher mental function	6418	SET	OMIM:618106
HP:0011446	Abnormality of higher mental function	7109	TRAPPC10	OMIM:620027
HP:0011446	Abnormality of higher mental function	79796	ALG9	OMIM:608776
HP:0011446	Abnormality of higher mental function	5279	PIGC	OMIM:617816
HP:0011446	Abnormality of higher mental function	3190	HNRNPK	ORPHA:453504
HP:0011446	Abnormality of higher mental function	3190	HNRNPK	OMIM:616580
HP:0011446	Abnormality of higher mental function	3190	HNRNPK	ORPHA:352665
HP:0011446	Abnormality of higher mental function	1120	CHKB	OMIM:602541
HP:0011446	Abnormality of higher mental function	57165	GJC2	OMIM:608804
HP:0011446	Abnormality of higher mental function	7707	ZNF148	OMIM:617260
HP:0011446	Abnormality of higher mental function	2972	BRF1	ORPHA:444072
HP:0011446	Abnormality of higher mental function	6873	TAF2	ORPHA:397951
HP:0011446	Abnormality of higher mental function	6616	SNAP25	OMIM:616330
HP:0011446	Abnormality of higher mental function	790	CAD	OMIM:616457
HP:0011446	Abnormality of higher mental function	84197	POMK	OMIM:615249
HP:0011446	Abnormality of higher mental function	56623	INPP5E	ORPHA:75858
HP:0011446	Abnormality of higher mental function	55768	NGLY1	ORPHA:404454
HP:0011446	Abnormality of higher mental function	526	ATP6V1B2	ORPHA:79499
HP:0011446	Abnormality of higher mental function	6904	TBCD	ORPHA:496641
HP:0011446	Abnormality of higher mental function	90161	HS6ST2	OMIM:301025
HP:0011446	Abnormality of higher mental function	79158	GNPTAB	ORPHA:576
HP:0011446	Abnormality of higher mental function	29925	GMPPB	ORPHA:370968
HP:0011446	Abnormality of higher mental function	79147	FKRP	ORPHA:370968
HP:0011446	Abnormality of higher mental function	29954	POMT2	ORPHA:370968
HP:0011446	Abnormality of higher mental function	9215	LARGE1	ORPHA:370968
HP:0011446	Abnormality of higher mental function	10585	POMT1	ORPHA:370968
HP:0011446	Abnormality of higher mental function	10559	SLC35A1	OMIM:603585
HP:0011446	Abnormality of higher mental function	818	CAMK2G	OMIM:618522
HP:0011446	Abnormality of higher mental function	51116	MRPS2	OMIM:617950
HP:0011446	Abnormality of higher mental function	55572	FOXRED1	OMIM:618241
HP:0011446	Abnormality of higher mental function	80224	NUBPL	OMIM:618242
HP:0011446	Abnormality of higher mental function	5119	CHMP1A	OMIM:614961
HP:0011446	Abnormality of higher mental function	10381	TUBB3	ORPHA:300570
HP:0011446	Abnormality of higher mental function	7436	VLDLR	OMIM:224050
HP:0011446	Abnormality of higher mental function	81857	MED25	ORPHA:464738
HP:0011446	Abnormality of higher mental function	51079	NDUFA13	OMIM:618249
HP:0011446	Abnormality of higher mental function	93627	TBCK	OMIM:616900
HP:0011446	Abnormality of higher mental function	29920	PYCR2	ORPHA:481152
HP:0011446	Abnormality of higher mental function	116442	RAB39B	OMIM:311510
HP:0011446	Abnormality of higher mental function	23389	MED13L	ORPHA:369891
HP:0011446	Abnormality of higher mental function	23389	MED13L	OMIM:616789
HP:0011446	Abnormality of higher mental function	2626	GATA4	ORPHA:251071
HP:0011446	Abnormality of higher mental function	56776	FMN2	OMIM:616193
HP:0011446	Abnormality of higher mental function	1605	DAG1	ORPHA:280333
HP:0011446	Abnormality of higher mental function	1193	CLIC2	ORPHA:324410
HP:0011446	Abnormality of higher mental function	10297	APC2	OMIM:617169
HP:0011446	Abnormality of higher mental function	5283	PIGH	OMIM:618010
HP:0011446	Abnormality of higher mental function	4700	NDUFA6	OMIM:618253
HP:0011446	Abnormality of higher mental function	1729	DIAPH1	OMIM:616632
HP:0011446	Abnormality of higher mental function	84342	COG8	ORPHA:95428
HP:0011446	Abnormality of higher mental function	8635	RNASET2	OMIM:612951
HP:0011446	Abnormality of higher mental function	84300	UQCC2	OMIM:615824
HP:0011446	Abnormality of higher mental function	10382	TUBB4A	OMIM:612438
HP:0011446	Abnormality of higher mental function	11212	PLPBP	OMIM:617290
HP:0011446	Abnormality of higher mental function	388662	SLC6A17	ORPHA:457212
HP:0011446	Abnormality of higher mental function	5063	PAK3	OMIM:300558
HP:0011446	Abnormality of higher mental function	163786	SASS6	OMIM:616402
HP:0011446	Abnormality of higher mental function	998	CDC42	ORPHA:487796
HP:0011446	Abnormality of higher mental function	4983	OPHN1	ORPHA:137831
HP:0011446	Abnormality of higher mental function	85440	DOCK7	ORPHA:411986
HP:0011446	Abnormality of higher mental function	10128	LRPPRC	ORPHA:70472
HP:0011446	Abnormality of higher mental function	5058	PAK1	OMIM:618158
HP:0011446	Abnormality of higher mental function	2232	FDXR	ORPHA:543470
HP:0011446	Abnormality of higher mental function	28952	CCDC22	OMIM:300963
HP:0011446	Abnormality of higher mental function	57570	TRMT5	OMIM:616539
HP:0011446	Abnormality of higher mental function	54112	GPR88	OMIM:616939
HP:0011446	Abnormality of higher mental function	93587	TRMT10A	ORPHA:391408
HP:0011446	Abnormality of higher mental function	84919	PPP1R15B	ORPHA:391408
HP:0011446	Abnormality of higher mental function	55691	FRMD4A	ORPHA:466688
HP:0011446	Abnormality of higher mental function	10717	AP4B1	ORPHA:280763
HP:0011446	Abnormality of higher mental function	9179	AP4M1	ORPHA:280763
HP:0011446	Abnormality of higher mental function	11154	AP4S1	ORPHA:280763
HP:0011446	Abnormality of higher mental function	5528	PPP2R5D	ORPHA:457279
HP:0011446	Abnormality of higher mental function	55084	SOBP	OMIM:613671
HP:0011446	Abnormality of higher mental function	9928	KIF14	OMIM:617914
HP:0011446	Abnormality of higher mental function	11043	MID2	OMIM:300928
HP:0011446	Abnormality of higher mental function	9757	KMT2B	OMIM:619934
HP:0011446	Abnormality of higher mental function	64116	SLC39A8	ORPHA:468699
HP:0011446	Abnormality of higher mental function	54936	ADPRS	OMIM:618170
HP:0011446	Abnormality of higher mental function	26100	WIPI2	OMIM:618453
HP:0011446	Abnormality of higher mental function	8295	TRRAP	OMIM:618454
HP:0011446	Abnormality of higher mental function	1968	EIF2S3	OMIM:300148
HP:0011446	Abnormality of higher mental function	4281	MID1	ORPHA:2745
HP:0011446	Abnormality of higher mental function	6878	TAF6	OMIM:617126
HP:0011446	Abnormality of higher mental function	5518	PPP2R1A	ORPHA:457284
HP:0011446	Abnormality of higher mental function	23516	SLC39A14	ORPHA:521406
HP:0011446	Abnormality of higher mental function	54808	DYM	ORPHA:239
HP:0011446	Abnormality of higher mental function	8565	YARS1	OMIM:619418
HP:0011446	Abnormality of higher mental function	644096	SDHAF1	ORPHA:3208
HP:0011446	Abnormality of higher mental function	5981	RFC1	OMIM:614575
HP:0011446	Abnormality of higher mental function	27235	COQ2	ORPHA:227510
HP:0011446	Abnormality of higher mental function	27235	COQ2	ORPHA:98933
HP:0011446	Abnormality of higher mental function	5122	PCSK1	ORPHA:71528
HP:0011446	Abnormality of higher mental function	4160	MC4R	ORPHA:71529
HP:0011446	Abnormality of higher mental function	4160	MC4R	OMIM:618406
HP:0011446	Abnormality of higher mental function	5443	POMC	ORPHA:71526
HP:0011446	Abnormality of higher mental function	5443	POMC	OMIM:609734
HP:0011446	Abnormality of higher mental function	3952	LEP	ORPHA:66628
HP:0011446	Abnormality of higher mental function	3952	LEP	OMIM:614962
HP:0011446	Abnormality of higher mental function	506	ATP5F1B	OMIM:620085
HP:0011446	Abnormality of higher mental function	26191	PTPN22	OMIM:222100
HP:0011446	Abnormality of higher mental function	3710	ITPR3	OMIM:222100
HP:0011446	Abnormality of higher mental function	3569	IL6	OMIM:222100
HP:0011446	Abnormality of higher mental function	6524	SLC5A2	OMIM:233100
HP:0011446	Abnormality of higher mental function	8087	FXR1	OMIM:618822
HP:0011446	Abnormality of higher mental function	8087	FXR1	OMIM:618823
HP:0011446	Abnormality of higher mental function	6452	SH3BP2	ORPHA:184
HP:0011446	Abnormality of higher mental function	1513	CTSK	ORPHA:763
HP:0011446	Abnormality of higher mental function	55770	EXOC2	OMIM:619306
HP:0011446	Abnormality of higher mental function	846	CASR	ORPHA:428
HP:0011446	Abnormality of higher mental function	3593	IL12B	ORPHA:3287
HP:0011446	Abnormality of higher mental function	6945	MLX	ORPHA:3287
HP:0011446	Abnormality of higher mental function	89970	RSPRY1	ORPHA:457395
HP:0011446	Abnormality of higher mental function	1806	DPYD	ORPHA:1675
HP:0011446	Abnormality of higher mental function	171023	ASXL1	ORPHA:97297
HP:0011446	Abnormality of higher mental function	58508	KMT2C	ORPHA:261652
HP:0011446	Abnormality of higher mental function	8925	HERC1	ORPHA:457359
HP:0011446	Abnormality of higher mental function	57492	ARID1B	OMIM:135900
HP:0011446	Abnormality of higher mental function	23126	POGZ	ORPHA:468678
HP:0011446	Abnormality of higher mental function	8803	SUCLA2	OMIM:612073
HP:0011446	Abnormality of higher mental function	8803	SUCLA2	ORPHA:1933
HP:0011446	Abnormality of higher mental function	318	NUDT2	OMIM:619844
HP:0011446	Abnormality of higher mental function	3778	KCNMA1	ORPHA:79137
HP:0011446	Abnormality of higher mental function	2592	GALT	ORPHA:79239
HP:0011446	Abnormality of higher mental function	93986	FOXP2	ORPHA:209908
HP:0011446	Abnormality of higher mental function	93986	FOXP2	OMIM:602081
HP:0011446	Abnormality of higher mental function	8864	PER2	OMIM:604348
HP:0011446	Abnormality of higher mental function	348	APOE	OMIM:606889
HP:0011446	Abnormality of higher mental function	1717	DHCR7	OMIM:270400
HP:0011446	Abnormality of higher mental function	56992	KIF15	ORPHA:261323
HP:0011446	Abnormality of higher mental function	6872	TAF1	OMIM:300966
HP:0011446	Abnormality of higher mental function	2892	GRIA3	ORPHA:364028
HP:0011446	Abnormality of higher mental function	28514	DLL1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	28514	DLL1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	28514	DLL1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	28514	DLL1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	10735	STAG2	ORPHA:220386
HP:0011446	Abnormality of higher mental function	10735	STAG2	ORPHA:93925
HP:0011446	Abnormality of higher mental function	2253	FGF8	ORPHA:220386
HP:0011446	Abnormality of higher mental function	2253	FGF8	ORPHA:93926
HP:0011446	Abnormality of higher mental function	2253	FGF8	ORPHA:93924
HP:0011446	Abnormality of higher mental function	2253	FGF8	ORPHA:93925
HP:0011446	Abnormality of higher mental function	6496	SIX3	ORPHA:220386
HP:0011446	Abnormality of higher mental function	6496	SIX3	ORPHA:93926
HP:0011446	Abnormality of higher mental function	6496	SIX3	ORPHA:93924
HP:0011446	Abnormality of higher mental function	6496	SIX3	ORPHA:93925
HP:0011446	Abnormality of higher mental function	7050	TGIF1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	7050	TGIF1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	7050	TGIF1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	7050	TGIF1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	4838	NODAL	ORPHA:220386
HP:0011446	Abnormality of higher mental function	4838	NODAL	ORPHA:93926
HP:0011446	Abnormality of higher mental function	4838	NODAL	ORPHA:93924
HP:0011446	Abnormality of higher mental function	4838	NODAL	ORPHA:93925
HP:0011446	Abnormality of higher mental function	6469	SHH	ORPHA:220386
HP:0011446	Abnormality of higher mental function	6469	SHH	ORPHA:93926
HP:0011446	Abnormality of higher mental function	6469	SHH	ORPHA:93924
HP:0011446	Abnormality of higher mental function	6469	SHH	ORPHA:93925
HP:0011446	Abnormality of higher mental function	7546	ZIC2	ORPHA:220386
HP:0011446	Abnormality of higher mental function	7546	ZIC2	ORPHA:93926
HP:0011446	Abnormality of higher mental function	7546	ZIC2	ORPHA:93924
HP:0011446	Abnormality of higher mental function	7546	ZIC2	ORPHA:93925
HP:0011446	Abnormality of higher mental function	6491	STIL	ORPHA:220386
HP:0011446	Abnormality of higher mental function	6491	STIL	ORPHA:93926
HP:0011446	Abnormality of higher mental function	6491	STIL	ORPHA:93924
HP:0011446	Abnormality of higher mental function	6491	STIL	ORPHA:93925
HP:0011446	Abnormality of higher mental function	2619	GAS1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	2619	GAS1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	2619	GAS1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	2619	GAS1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	84976	DISP1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	84976	DISP1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	84976	DISP1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	84976	DISP1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	2736	GLI2	ORPHA:220386
HP:0011446	Abnormality of higher mental function	2736	GLI2	ORPHA:93926
HP:0011446	Abnormality of higher mental function	2736	GLI2	ORPHA:93924
HP:0011446	Abnormality of higher mental function	2736	GLI2	ORPHA:93925
HP:0011446	Abnormality of higher mental function	8928	FOXH1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	8928	FOXH1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	8928	FOXH1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	8928	FOXH1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	5727	PTCH1	ORPHA:220386
HP:0011446	Abnormality of higher mental function	5727	PTCH1	ORPHA:93926
HP:0011446	Abnormality of higher mental function	5727	PTCH1	ORPHA:93924
HP:0011446	Abnormality of higher mental function	5727	PTCH1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	50937	CDON	ORPHA:220386
HP:0011446	Abnormality of higher mental function	50937	CDON	ORPHA:93926
HP:0011446	Abnormality of higher mental function	50937	CDON	ORPHA:93924
HP:0011446	Abnormality of higher mental function	50937	CDON	ORPHA:93925
HP:0011446	Abnormality of higher mental function	815	CAMK2A	OMIM:617798
HP:0011446	Abnormality of higher mental function	1453	CSNK1D	OMIM:615224
HP:0011446	Abnormality of higher mental function	9894	TELO2	ORPHA:488642
HP:0011446	Abnormality of higher mental function	23007	PLCH1	ORPHA:93925
HP:0011446	Abnormality of higher mental function	6638	SNRPN	ORPHA:411515
HP:0011446	Abnormality of higher mental function	6638	SNRPN	OMIM:105830
HP:0011446	Abnormality of higher mental function	7337	UBE3A	ORPHA:411515
HP:0011446	Abnormality of higher mental function	7337	UBE3A	OMIM:105830
HP:0011446	Abnormality of higher mental function	57194	ATP10A	ORPHA:411515
HP:0011446	Abnormality of higher mental function	26224	FBXL3	OMIM:606220
HP:0011446	Abnormality of higher mental function	5689	PSMB1	OMIM:620038
HP:0011446	Abnormality of higher mental function	3973	LHCGR	ORPHA:3000
HP:0011446	Abnormality of higher mental function	30011	SH3KBP1	OMIM:300310
HP:0011446	Abnormality of higher mental function	55719	SLF2	OMIM:620184
HP:0011446	Abnormality of higher mental function	9922	IQSEC1	OMIM:618687
HP:0011446	Abnormality of higher mental function	6909	TBX2	OMIM:618223
HP:0011446	Abnormality of higher mental function	11151	CORO1A	OMIM:615401
HP:0011446	Abnormality of higher mental function	79576	NKAP	OMIM:301039
HP:0011446	Abnormality of higher mental function	121278	TPH2	OMIM:613003
HP:0011446	Abnormality of higher mental function	51729	WBP11	OMIM:619227
HP:0011446	Abnormality of higher mental function	4659	PPP1R12A	OMIM:618820
HP:0011446	Abnormality of higher mental function	22872	SEC31A	OMIM:618651
HP:0011446	Abnormality of higher mental function	3753	KCNE1	ORPHA:90647
HP:0011446	Abnormality of higher mental function	3784	KCNQ1	ORPHA:90647
HP:0011446	Abnormality of higher mental function	135	ADORA2A	ORPHA:363549
HP:0011446	Abnormality of higher mental function	4665	NAB2	ORPHA:2126
HP:0011446	Abnormality of higher mental function	6778	STAT6	ORPHA:2126
HP:0011446	Abnormality of higher mental function	1650	DDOST	ORPHA:300536
HP:0011446	Abnormality of higher mental function	10755	GIPC1	ORPHA:98897
HP:0011446	Abnormality of higher mental function	51	ACOX1	OMIM:264470
HP:0011446	Abnormality of higher mental function	2328	FMO3	ORPHA:468726
HP:0011446	Abnormality of higher mental function	112755	STX1B	ORPHA:36387
HP:0011446	Abnormality of higher mental function	84059	ADGRV1	ORPHA:36387
HP:0011446	Abnormality of higher mental function	4487	MSX1	ORPHA:141291
HP:0011446	Abnormality of higher mental function	4487	MSX1	ORPHA:199302
HP:0011446	Abnormality of higher mental function	4487	MSX1	ORPHA:199306
HP:0011446	Abnormality of higher mental function	3664	IRF6	ORPHA:141291
HP:0011446	Abnormality of higher mental function	3664	IRF6	ORPHA:199302
HP:0011446	Abnormality of higher mental function	3664	IRF6	ORPHA:199306
HP:0011446	Abnormality of higher mental function	7314	UBB	ORPHA:99772
HP:0011446	Abnormality of higher mental function	57822	GRHL3	ORPHA:99772
HP:0011446	Abnormality of higher mental function	1739	DLG1	ORPHA:199306
HP:0011446	Abnormality of higher mental function	652	BMP4	ORPHA:199306
HP:0011446	Abnormality of higher mental function	999	CDH1	ORPHA:199306
HP:0011446	Abnormality of higher mental function	5156	PDGFRA	ORPHA:199306
HP:0011446	Abnormality of higher mental function	9411	ARHGAP29	ORPHA:199306
HP:0011446	Abnormality of higher mental function	1748	DLX4	ORPHA:199306
HP:0011446	Abnormality of higher mental function	54892	NCAPG2	OMIM:618460
HP:0011446	Abnormality of higher mental function	65993	MRPS34	OMIM:617664
HP:0011446	Abnormality of higher mental function	7259	TSPYL1	ORPHA:168593
HP:0011446	Abnormality of higher mental function	738	VPS51	OMIM:618606
HP:0011446	Abnormality of higher mental function	860	RUNX2	ORPHA:1452
HP:0011446	Abnormality of higher mental function	4054	LTBP3	OMIM:617809
HP:0011446	Abnormality of higher mental function	57003	CCDC47	OMIM:618268
HP:0011446	Abnormality of higher mental function	133686	NADK2	ORPHA:431361
HP:0011446	Abnormality of higher mental function	166378	AFG2A	OMIM:616577
HP:0011446	Abnormality of higher mental function	7469	NELFA	ORPHA:280
HP:0011446	Abnormality of higher mental function	9037	SEMA5A	ORPHA:281
HP:0011446	Abnormality of higher mental function	54828	BCAS3	OMIM:619641
HP:0011446	Abnormality of higher mental function	197258	FCSK	OMIM:618324
HP:0011446	Abnormality of higher mental function	9526	MPDU1	ORPHA:79323
HP:0011446	Abnormality of higher mental function	51645	PPIL1	OMIM:619301
HP:0011446	Abnormality of higher mental function	51362	CDC40	OMIM:619302
HP:0011446	Abnormality of higher mental function	5881	RAC3	OMIM:618577
HP:0011446	Abnormality of higher mental function	8492	PRSS12	OMIM:249500
HP:0011446	Abnormality of higher mental function	79709	COLGALT1	OMIM:618360
HP:0011446	Abnormality of higher mental function	23229	ARHGEF9	OMIM:300607
HP:0011446	Abnormality of higher mental function	6045	RNF2	OMIM:619460
HP:0011446	Abnormality of higher mental function	1528	CYB5A	ORPHA:621
HP:0011446	Abnormality of higher mental function	5264	PHYH	ORPHA:773
HP:0011446	Abnormality of higher mental function	894	CCND2	OMIM:615938
HP:0011446	Abnormality of higher mental function	51199	NIN	OMIM:614851
HP:0011446	Abnormality of higher mental function	51199	NIN	ORPHA:319675
HP:0011446	Abnormality of higher mental function	5700	PSMC1	OMIM:620071
HP:0011446	Abnormality of higher mental function	9662	CEP135	OMIM:614673
HP:0011446	Abnormality of higher mental function	9662	CEP135	ORPHA:2512
HP:0011446	Abnormality of higher mental function	91869	RFT1	OMIM:612015
HP:0011446	Abnormality of higher mental function	50	ACO2	OMIM:614559
HP:0011446	Abnormality of higher mental function	9378	NRXN1	OMIM:614325
HP:0011446	Abnormality of higher mental function	55969	RAB5IF	OMIM:616994
HP:0011446	Abnormality of higher mental function	64857	PLEKHG2	OMIM:616763
HP:0011446	Abnormality of higher mental function	23630	KCNE5	ORPHA:86818
HP:0011446	Abnormality of higher mental function	57731	SPTBN4	OMIM:617519
HP:0011446	Abnormality of higher mental function	4176	MCM7	ORPHA:2512
HP:0011446	Abnormality of higher mental function	23310	NCAPD3	ORPHA:2512
HP:0011446	Abnormality of higher mental function	23141	ANKLE2	ORPHA:2512
HP:0011446	Abnormality of higher mental function	1911	PHC1	ORPHA:2512
HP:0011446	Abnormality of higher mental function	51075	TMX2	OMIM:618730
HP:0011446	Abnormality of higher mental function	55331	ACER3	OMIM:617762
HP:0011446	Abnormality of higher mental function	2036	EPB41L1	OMIM:614257
HP:0011446	Abnormality of higher mental function	4841	NONO	ORPHA:466791
HP:0011446	Abnormality of higher mental function	4841	NONO	OMIM:300967
HP:0011446	Abnormality of higher mental function	6535	SLC6A8	OMIM:300352
HP:0011446	Abnormality of higher mental function	253738	EBF3	OMIM:617330
HP:0011446	Abnormality of higher mental function	5728	PTEN	OMIM:605309
HP:0011446	Abnormality of higher mental function	5457	POU4F1	OMIM:619352
HP:0011446	Abnormality of higher mental function	27086	FOXP1	OMIM:613670
HP:0011446	Abnormality of higher mental function	23135	KDM6B	OMIM:618505
HP:0011446	Abnormality of higher mental function	27286	SRPX2	ORPHA:163721
HP:0011446	Abnormality of higher mental function	27286	SRPX2	OMIM:300643
HP:0011446	Abnormality of higher mental function	10273	STUB1	ORPHA:412057
HP:0011446	Abnormality of higher mental function	7874	USP7	OMIM:616863
HP:0011446	Abnormality of higher mental function	60684	TRAPPC11	OMIM:615356
HP:0011446	Abnormality of higher mental function	84282	RNF135	ORPHA:137634
HP:0011446	Abnormality of higher mental function	9969	MED13	OMIM:618009
HP:0011446	Abnormality of higher mental function	1737	DLAT	ORPHA:79244
HP:0011446	Abnormality of higher mental function	1105	CHD1	OMIM:617682
HP:0011446	Abnormality of higher mental function	1105	CHD1	ORPHA:529965
HP:0011446	Abnormality of higher mental function	25970	SH2B1	ORPHA:261197
HP:0011446	Abnormality of higher mental function	1760	DMPK	ORPHA:589821
HP:0011446	Abnormality of higher mental function	55690	PACS1	OMIM:615009
HP:0011446	Abnormality of higher mental function	10847	SRCAP	ORPHA:2044
HP:0011446	Abnormality of higher mental function	5813	PURA	ORPHA:314655
HP:0011446	Abnormality of higher mental function	10166	SLC25A15	ORPHA:415
HP:0011446	Abnormality of higher mental function	2584	GALK1	ORPHA:79237
HP:0011446	Abnormality of higher mental function	57582	KCNT1	OMIM:615005
HP:0011446	Abnormality of higher mental function	1593	CYP27A1	ORPHA:909
HP:0011446	Abnormality of higher mental function	51324	SPG21	ORPHA:101001
HP:0011446	Abnormality of higher mental function	875	CBS	OMIM:236200
HP:0011446	Abnormality of higher mental function	7504	XK	OMIM:300842
HP:0011446	Abnormality of higher mental function	1759	DNM1	ORPHA:2382
HP:0011446	Abnormality of higher mental function	2562	GABRB3	ORPHA:2382
HP:0011446	Abnormality of higher mental function	5602	MAPK10	ORPHA:2382
HP:0011446	Abnormality of higher mental function	23316	CUX2	ORPHA:2382
HP:0011446	Abnormality of higher mental function	1106	CHD2	ORPHA:2382
HP:0011446	Abnormality of higher mental function	6095	RORA	OMIM:618060
HP:0011446	Abnormality of higher mental function	51322	WAC	ORPHA:466950
HP:0011446	Abnormality of higher mental function	26038	CHD5	OMIM:619873
HP:0011446	Abnormality of higher mental function	55904	KMT2E	OMIM:618512
HP:0011446	Abnormality of higher mental function	6532	SLC6A4	OMIM:164230
HP:0011446	Abnormality of higher mental function	3356	HTR2A	OMIM:164230
HP:0011446	Abnormality of higher mental function	6509	SLC1A4	ORPHA:447997
HP:0011446	Abnormality of higher mental function	374969	SVBP	OMIM:618569
HP:0011446	Abnormality of higher mental function	57551	TAOK1	OMIM:619575
HP:0011446	Abnormality of higher mental function	5281	PIGF	OMIM:619356
HP:0011446	Abnormality of higher mental function	5594	MAPK1	OMIM:619087
HP:0011446	Abnormality of higher mental function	476	ATP1A1	OMIM:618314
HP:0011446	Abnormality of higher mental function	9731	CEP104	OMIM:619988
HP:0011446	Abnormality of higher mental function	4914	NTRK1	ORPHA:642
HP:0011446	Abnormality of higher mental function	4001	LMNB1	OMIM:619179
HP:0011446	Abnormality of higher mental function	6844	VAMP2	OMIM:618760
HP:0011446	Abnormality of higher mental function	2770	GNAI1	OMIM:619854
HP:0011446	Abnormality of higher mental function	26047	CNTNAP2	ORPHA:163681
HP:0011446	Abnormality of higher mental function	4247	MGAT2	ORPHA:79329
HP:0011446	Abnormality of higher mental function	4247	MGAT2	OMIM:212066
HP:0011446	Abnormality of higher mental function	774	CACNA1B	OMIM:618497
HP:0011446	Abnormality of higher mental function	10659	CELF2	OMIM:619561
HP:0011446	Abnormality of higher mental function	3745	KCNB1	OMIM:616056
HP:0011446	Abnormality of higher mental function	10472	ZBTB18	OMIM:612337
HP:0011446	Abnormality of higher mental function	8905	AP1S2	OMIM:304340
HP:0011446	Abnormality of higher mental function	2891	GRIA2	OMIM:618917
HP:0011446	Abnormality of higher mental function	10730	YME1L1	OMIM:617302
HP:0011446	Abnormality of higher mental function	2334	AFF2	ORPHA:100973
HP:0011446	Abnormality of higher mental function	2334	AFF2	OMIM:309548
HP:0011446	Abnormality of higher mental function	1798	DPAGT1	ORPHA:86309
HP:0011446	Abnormality of higher mental function	2783	GNB2	OMIM:619503
HP:0011446	Abnormality of higher mental function	80232	WDR26	ORPHA:513456
HP:0011446	Abnormality of higher mental function	56947	MFF	ORPHA:485421
HP:0011446	Abnormality of higher mental function	26053	AUTS2	OMIM:615834
HP:0011446	Abnormality of higher mental function	26053	AUTS2	ORPHA:352490
HP:0011446	Abnormality of higher mental function	6492	SIM1	ORPHA:398079
HP:0011446	Abnormality of higher mental function	1137	CHRNA4	ORPHA:98784
HP:0011446	Abnormality of higher mental function	1135	CHRNA2	ORPHA:98784
HP:0011446	Abnormality of higher mental function	57010	CABP4	ORPHA:98784
HP:0011446	Abnormality of higher mental function	1141	CHRNB2	ORPHA:98784
HP:0011446	Abnormality of higher mental function	1392	CRH	ORPHA:98784
HP:0011446	Abnormality of higher mental function	27245	AHDC1	ORPHA:412069
HP:0011446	Abnormality of higher mental function	27245	AHDC1	OMIM:615829
HP:0011446	Abnormality of higher mental function	5332	PLCB4	OMIM:614669
HP:0011446	Abnormality of higher mental function	5332	PLCB4	ORPHA:137888
HP:0011446	Abnormality of higher mental function	1906	EDN1	ORPHA:137888
HP:0011446	Abnormality of higher mental function	2773	GNAI3	ORPHA:137888
HP:0011446	Abnormality of higher mental function	2773	GNAI3	OMIM:602483
HP:0011446	Abnormality of higher mental function	341208	HEPHL1	OMIM:261990
HP:0011446	Abnormality of higher mental function	83550	GPR101	OMIM:300942
HP:0011446	Abnormality of higher mental function	23431	AP4E1	OMIM:184450
HP:0011446	Abnormality of higher mental function	4558	MT-TF	ORPHA:550
HP:0011446	Abnormality of higher mental function	4572	MT-TQ	ORPHA:550
HP:0011446	Abnormality of higher mental function	4512	MT-CO1	ORPHA:550
HP:0011446	Abnormality of higher mental function	4513	MT-CO2	ORPHA:550
HP:0011446	Abnormality of higher mental function	4514	MT-CO3	ORPHA:550
HP:0011446	Abnormality of higher mental function	4578	MT-TW	ORPHA:550
HP:0011446	Abnormality of higher mental function	4540	MT-ND5	ORPHA:550
HP:0011446	Abnormality of higher mental function	4541	MT-ND6	ORPHA:550
HP:0011446	Abnormality of higher mental function	4535	MT-ND1	ORPHA:550
HP:0011446	Abnormality of higher mental function	4538	MT-ND4	ORPHA:550
HP:0011446	Abnormality of higher mental function	4567	MT-TL1	ORPHA:550
HP:0011446	Abnormality of higher mental function	4574	MT-TS1	ORPHA:550
HP:0011446	Abnormality of higher mental function	4575	MT-TS2	ORPHA:550
HP:0011446	Abnormality of higher mental function	4564	MT-TH	ORPHA:550
HP:0011446	Abnormality of higher mental function	284058	KANSL1	ORPHA:363965
HP:0011446	Abnormality of higher mental function	284058	KANSL1	ORPHA:363958
HP:0011446	Abnormality of higher mental function	3074	HEXB	ORPHA:309169
HP:0011446	Abnormality of higher mental function	340533	NEXMIF	OMIM:300912
HP:0011446	Abnormality of higher mental function	64324	NSD1	OMIM:117550
HP:0011446	Abnormality of higher mental function	6999	TDO2	OMIM:600627
HP:0011446	Abnormality of higher mental function	81887	LAS1L	OMIM:309585
HP:0011446	Abnormality of higher mental function	1107	CHD3	OMIM:618205
HP:0011446	Abnormality of higher mental function	57410	SCYL1	OMIM:616719
HP:0011446	Abnormality of higher mental function	57410	SCYL1	ORPHA:466794
HP:0011446	Abnormality of higher mental function	25792	CIZ1	ORPHA:420492
HP:0011446	Abnormality of higher mental function	6792	CDKL5	ORPHA:3095
HP:0011446	Abnormality of higher mental function	22854	NTNG1	ORPHA:3095
HP:0011446	Abnormality of higher mental function	9568	GABBR2	ORPHA:3095
HP:0011446	Abnormality of higher mental function	4204	MECP2	ORPHA:3095
HP:0011446	Abnormality of higher mental function	8243	SMC1A	ORPHA:3095
HP:0011446	Abnormality of higher mental function	23111	SPART	ORPHA:101000
HP:0011446	Abnormality of higher mental function	84196	USP48	ORPHA:96253
HP:0011446	Abnormality of higher mental function	7157	TP53	ORPHA:96253
HP:0011446	Abnormality of higher mental function	7157	TP53	ORPHA:1501
HP:0011446	Abnormality of higher mental function	9101	USP8	ORPHA:96253
HP:0011446	Abnormality of higher mental function	64072	CDH23	ORPHA:96253
HP:0011446	Abnormality of higher mental function	2908	NR3C1	ORPHA:96253
HP:0011446	Abnormality of higher mental function	673	BRAF	ORPHA:96253
HP:0011446	Abnormality of higher mental function	546	ATRX	ORPHA:96253
HP:0011446	Abnormality of higher mental function	1813	DRD2	ORPHA:36899
HP:0011446	Abnormality of higher mental function	8910	SGCE	ORPHA:36899
HP:0011446	Abnormality of higher mental function	8910	SGCE	OMIM:159900
HP:0011446	Abnormality of higher mental function	79734	KCTD17	ORPHA:36899
HP:0011446	Abnormality of higher mental function	1861	TOR1A	ORPHA:36899
HP:0011446	Abnormality of higher mental function	1387	CREBBP	ORPHA:353281
HP:0011446	Abnormality of higher mental function	1387	CREBBP	ORPHA:353277
HP:0011446	Abnormality of higher mental function	23384	SPECC1L	OMIM:145420
HP:0011446	Abnormality of higher mental function	7428	VHL	ORPHA:29072
HP:0011446	Abnormality of higher mental function	7428	VHL	ORPHA:276621
HP:0011446	Abnormality of higher mental function	1743	DLST	ORPHA:29072
HP:0011446	Abnormality of higher mental function	4191	MDH2	ORPHA:29072
HP:0011446	Abnormality of higher mental function	5979	RET	ORPHA:29072
HP:0011446	Abnormality of higher mental function	5979	RET	ORPHA:276621
HP:0011446	Abnormality of higher mental function	6389	SDHA	ORPHA:29072
HP:0011446	Abnormality of higher mental function	23095	KIF1B	ORPHA:29072
HP:0011446	Abnormality of higher mental function	2271	FH	ORPHA:29072
HP:0011446	Abnormality of higher mental function	8402	SLC25A11	ORPHA:29072
HP:0011446	Abnormality of higher mental function	54949	SDHAF2	ORPHA:29072
HP:0011446	Abnormality of higher mental function	55654	TMEM127	ORPHA:29072
HP:0011446	Abnormality of higher mental function	4763	NF1	ORPHA:29072
HP:0011446	Abnormality of higher mental function	6391	SDHC	ORPHA:29072
HP:0011446	Abnormality of higher mental function	6392	SDHD	ORPHA:29072
HP:0011446	Abnormality of higher mental function	6392	SDHD	ORPHA:276621
HP:0011446	Abnormality of higher mental function	6390	SDHB	ORPHA:29072
HP:0011446	Abnormality of higher mental function	6390	SDHB	ORPHA:276621
HP:0011446	Abnormality of higher mental function	4149	MAX	ORPHA:29072
HP:0011446	Abnormality of higher mental function	2033	EP300	ORPHA:353284
HP:0011446	Abnormality of higher mental function	54832	VPS13C	ORPHA:2828
HP:0011446	Abnormality of higher mental function	11315	PARK7	ORPHA:2828
HP:0011446	Abnormality of higher mental function	7345	UCHL1	ORPHA:2828
HP:0011446	Abnormality of higher mental function	27429	HTRA2	ORPHA:2828
HP:0011446	Abnormality of higher mental function	120892	LRRK2	ORPHA:2828
HP:0011446	Abnormality of higher mental function	9829	DNAJC6	ORPHA:2828
HP:0011446	Abnormality of higher mental function	6622	SNCA	ORPHA:2828
HP:0011446	Abnormality of higher mental function	5420	PODXL	ORPHA:2828
HP:0011446	Abnormality of higher mental function	65018	PINK1	ORPHA:2828
HP:0011446	Abnormality of higher mental function	8867	SYNJ1	ORPHA:2828
HP:0011446	Abnormality of higher mental function	5071	PRKN	ORPHA:2828
HP:0011446	Abnormality of higher mental function	3781	KCNN2	OMIM:619725
HP:0011446	Abnormality of higher mental function	1788	DNMT3A	ORPHA:276621
HP:0011446	Abnormality of higher mental function	2034	EPAS1	ORPHA:276621
HP:0011446	Abnormality of higher mental function	84133	ZNRF3	ORPHA:1501
HP:0011446	Abnormality of higher mental function	5573	PRKAR1A	ORPHA:1501
HP:0011446	Abnormality of higher mental function	1499	CTNNB1	ORPHA:1501
HP:0011446	Abnormality of higher mental function	1029	CDKN2A	ORPHA:1501
HP:0011446	Abnormality of higher mental function	7015	TERT	ORPHA:1501
HP:0011446	Abnormality of higher mental function	2990	GUSB	OMIM:253220
HP:0011446	Abnormality of higher mental function	29968	PSAT1	ORPHA:284417
HP:0011446	Abnormality of higher mental function	6608	SMO	OMIM:241800
HP:0011446	Abnormality of higher mental function	123263	MTFMT	OMIM:614947
HP:0011446	Abnormality of higher mental function	5371	PML	ORPHA:520
HP:0011446	Abnormality of higher mental function	5914	RARA	ORPHA:520
HP:0011446	Abnormality of higher mental function	359948	IRF2BP2	ORPHA:520
HP:0011446	Abnormality of higher mental function	81608	FIP1L1	ORPHA:520
HP:0011446	Abnormality of higher mental function	4869	NPM1	ORPHA:520
HP:0011446	Abnormality of higher mental function	64859	NABP1	ORPHA:520
HP:0011446	Abnormality of higher mental function	6777	STAT5B	ORPHA:520
HP:0011446	Abnormality of higher mental function	4926	NUMA1	ORPHA:520
HP:0011446	Abnormality of higher mental function	7704	ZBTB16	ORPHA:520
HP:0011446	Abnormality of higher mental function	50833	TAS2R16	OMIM:103780
HP:0011446	Abnormality of higher mental function	125	ADH1B	OMIM:103780
HP:0011446	Abnormality of higher mental function	1407	CRY1	OMIM:614163
HP:0011446	Abnormality of higher mental function	79989	IFT56	OMIM:619534
HP:0011446	Abnormality of higher mental function	1213	CLTC	OMIM:617854
HP:0011446	Abnormality of higher mental function	6515	SLC2A3	ORPHA:399
HP:0011446	Abnormality of higher mental function	7305	TYROBP	OMIM:221770
HP:0011446	Abnormality of higher mental function	2799	GNS	OMIM:252940
HP:0011446	Abnormality of higher mental function	8914	TIMELESS	OMIM:620015
HP:0011446	Abnormality of higher mental function	8863	PER3	OMIM:616882
HP:0011446	Abnormality of higher mental function	2077	ERF	OMIM:600775
HP:0011446	Abnormality of higher mental function	6907	TBL1X	OMIM:301033
HP:0011446	Abnormality of higher mental function	81615	TMEM163	OMIM:620243
HP:0011446	Abnormality of higher mental function	153	ADRB1	OMIM:618591
HP:0011446	Abnormality of higher mental function	1725	DHPS	OMIM:618480
HP:0011446	Abnormality of higher mental function	122553	TRAPPC6B	OMIM:617862
HP:0011446	Abnormality of higher mental function	54507	ADAMTSL4	ORPHA:1885
HP:0011446	Abnormality of higher mental function	1131	CHRM3	ORPHA:2970
HP:0011446	Abnormality of higher mental function	28958	COA3	OMIM:619058
HP:0011446	Abnormality of higher mental function	1716	DGUOK	ORPHA:329314
HP:0011446	Abnormality of higher mental function	23461	ABCA5	ORPHA:2026
HP:0011446	Abnormality of higher mental function	10280	SIGMAR1	ORPHA:300605
HP:0011446	Abnormality of higher mental function	10558	SPTLC1	ORPHA:300605
HP:0011446	Abnormality of higher mental function	7317	UBA1	ORPHA:1145
HP:0011446	Abnormality of higher mental function	9573	GDF3	ORPHA:2345
HP:0011446	Abnormality of higher mental function	4222	MEOX1	ORPHA:2345
HP:0011446	Abnormality of higher mental function	137492	VPS37A	OMIM:614898
HP:0011446	Abnormality of higher mental function	55670	PEX26	ORPHA:912
HP:0011446	Abnormality of higher mental function	5824	PEX19	ORPHA:912
HP:0011446	Abnormality of higher mental function	8504	PEX3	ORPHA:912
HP:0011446	Abnormality of higher mental function	5194	PEX13	ORPHA:912
HP:0011446	Abnormality of higher mental function	5195	PEX14	ORPHA:912
HP:0011446	Abnormality of higher mental function	7508	XPC	ORPHA:910
HP:0011446	Abnormality of higher mental function	1643	DDB2	ORPHA:910
HP:0011446	Abnormality of higher mental function	4549	MT-RNR1	ORPHA:551
HP:0011446	Abnormality of higher mental function	4571	MT-TP	ORPHA:551
HP:0011446	Abnormality of higher mental function	10102	TSFM	OMIM:610505
HP:0011446	Abnormality of higher mental function	283446	MYO1H	ORPHA:661
HP:0011446	Abnormality of higher mental function	11235	PDCD10	ORPHA:221061
HP:0011446	Abnormality of higher mental function	83605	CCM2	ORPHA:221061
HP:0011446	Abnormality of higher mental function	889	KRIT1	ORPHA:221061
HP:0011446	Abnormality of higher mental function	54453	RIN2	ORPHA:217335
HP:0011446	Abnormality of higher mental function	2542	SLC37A4	ORPHA:79259
HP:0011446	Abnormality of higher mental function	2717	GLA	ORPHA:324
HP:0011446	Abnormality of higher mental function	23395	LARS2	OMIM:615300
HP:0011446	Abnormality of higher mental function	79827	CLMP	ORPHA:2301
HP:0011446	Abnormality of higher mental function	151516	ASPRV1	ORPHA:313
HP:0011446	Abnormality of higher mental function	242	ALOX12B	ORPHA:313
HP:0011446	Abnormality of higher mental function	126410	CYP4F22	ORPHA:313
HP:0011446	Abnormality of higher mental function	6820	SULT2B1	ORPHA:313
HP:0011446	Abnormality of higher mental function	643418	LIPN	ORPHA:313
HP:0011446	Abnormality of higher mental function	59344	ALOXE3	ORPHA:313
HP:0011446	Abnormality of higher mental function	348938	NIPAL4	ORPHA:313
HP:0011446	Abnormality of higher mental function	121214	SDR9C7	ORPHA:313
HP:0011446	Abnormality of higher mental function	7051	TGM1	ORPHA:313
HP:0011446	Abnormality of higher mental function	8425	LTBP4	ORPHA:98896
HP:0011446	Abnormality of higher mental function	10137	RBM12	OMIM:617629
HP:0011446	Abnormality of higher mental function	199221	DZIP1L	ORPHA:731
HP:0011446	Abnormality of higher mental function	5314	PKHD1	ORPHA:731
HP:0011446	Abnormality of higher mental function	2767	GNA11	ORPHA:1556
HP:0011446	Abnormality of higher mental function	151188	ARL6IP6	ORPHA:1556
HP:0011446	Abnormality of higher mental function	200205	IBA57	OMIM:615330
HP:0011446	Abnormality of higher mental function	23529	CLCF1	ORPHA:1545
HP:0011446	Abnormality of higher mental function	64221	ROBO3	ORPHA:2744
HP:0011446	Abnormality of higher mental function	55746	NUP133	ORPHA:2065
HP:0011446	Abnormality of higher mental function	161742	SPRED1	ORPHA:137605
HP:0011446	Abnormality of higher mental function	2898	GRIK2	OMIM:619580
HP:0011446	Abnormality of higher mental function	132158	GLYCTK	OMIM:220120
HP:0011446	Abnormality of higher mental function	57688	ZSWIM6	OMIM:617865
HP:0011446	Abnormality of higher mental function	2290	FOXG1	OMIM:613454
HP:0011446	Abnormality of higher mental function	57526	PCDH19	ORPHA:101039
HP:0011446	Abnormality of higher mental function	57526	PCDH19	ORPHA:33069
HP:0011446	Abnormality of higher mental function	23013	SPEN	OMIM:619312
HP:0011446	Abnormality of higher mental function	139411	PTCHD1	OMIM:300830
HP:0011446	Abnormality of higher mental function	56896	DPYSL5	OMIM:619435
HP:0011446	Abnormality of higher mental function	51126	NAA20	OMIM:619717
HP:0011446	Abnormality of higher mental function	6507	SLC1A3	ORPHA:2131
HP:0011446	Abnormality of higher mental function	6335	SCN9A	ORPHA:33069
HP:0011446	Abnormality of higher mental function	2554	GABRA1	ORPHA:33069
HP:0011446	Abnormality of higher mental function	81839	VANGL1	ORPHA:3027
HP:0011446	Abnormality of higher mental function	80199	FUZ	ORPHA:3027
HP:0011446	Abnormality of higher mental function	10093	ARPC4	OMIM:620141
HP:0011446	Abnormality of higher mental function	2731	GLDC	OMIM:605899
HP:0011446	Abnormality of higher mental function	275	AMT	OMIM:605899
HP:0011446	Abnormality of higher mental function	79783	SUGCT	ORPHA:35706
HP:0011446	Abnormality of higher mental function	113179	ADAT3	ORPHA:363528
HP:0011446	Abnormality of higher mental function	23291	FBXW11	OMIM:618914
HP:0011446	Abnormality of higher mental function	3097	HIVEP2	OMIM:616977
HP:0011446	Abnormality of higher mental function	57082	KNL1	OMIM:604321
HP:0011446	Abnormality of higher mental function	284403	WDR62	OMIM:604317
HP:0011446	Abnormality of higher mental function	64601	VPS16	OMIM:619291
HP:0011446	Abnormality of higher mental function	4128	MAOA	OMIM:300615
HP:0011446	Abnormality of higher mental function	63035	BCORL1	OMIM:301029
HP:0011446	Abnormality of higher mental function	4781	NFIB	OMIM:618286
HP:0011446	Abnormality of higher mental function	1000	CDH2	OMIM:618929
HP:0011446	Abnormality of higher mental function	5422	POLA1	OMIM:301030
HP:0011446	Abnormality of higher mental function	11141	IL1RAPL1	OMIM:300143
HP:0011446	Abnormality of higher mental function	84274	COQ5	OMIM:619028
HP:0011446	Abnormality of higher mental function	22995	CEP152	OMIM:614852
HP:0011446	Abnormality of higher mental function	199857	ALG14	OMIM:619031
HP:0011446	Abnormality of higher mental function	123606	NIPA1	ORPHA:261183
HP:0011446	Abnormality of higher mental function	7283	TUBG1	ORPHA:261183
HP:0011446	Abnormality of higher mental function	81614	NIPA2	ORPHA:261183
HP:0011446	Abnormality of higher mental function	11133	KPTN	OMIM:615637
HP:0011446	Abnormality of higher mental function	11133	KPTN	ORPHA:397612
HP:0011446	Abnormality of higher mental function	4897	NRCAM	OMIM:619833
HP:0011446	Abnormality of higher mental function	4784	NFIX	ORPHA:447980
HP:0011446	Abnormality of higher mental function	2593	GAMT	ORPHA:382
HP:0011446	Abnormality of higher mental function	5515	PPP2CA	OMIM:618354
HP:0011446	Abnormality of higher mental function	9578	CDC42BPB	OMIM:619841
HP:0011446	Abnormality of higher mental function	57520	HECW2	OMIM:617268
HP:0011446	Abnormality of higher mental function	4953	ODC1	ORPHA:544488
HP:0011446	Abnormality of higher mental function	7086	TKT	ORPHA:488618
HP:0011446	Abnormality of higher mental function	7086	TKT	OMIM:617044
HP:0011446	Abnormality of higher mental function	6660	SOX5	ORPHA:313892
HP:0011446	Abnormality of higher mental function	5934	RBL2	OMIM:619690
HP:0011446	Abnormality of higher mental function	473	RERE	ORPHA:494344
HP:0011446	Abnormality of higher mental function	473	RERE	ORPHA:1606
HP:0011446	Abnormality of higher mental function	55250	ELP2	OMIM:617270
HP:0011446	Abnormality of higher mental function	51132	RLIM	OMIM:300978
HP:0011446	Abnormality of higher mental function	23221	RHOBTB2	OMIM:618004
HP:0011446	Abnormality of higher mental function	535	ATP6V0A1	OMIM:619970
HP:0011446	Abnormality of higher mental function	1183	CLCN4	ORPHA:485350
HP:0011446	Abnormality of higher mental function	23325	WASHC4	OMIM:615817
HP:0011446	Abnormality of higher mental function	8260	NAA10	ORPHA:568
HP:0011446	Abnormality of higher mental function	54880	BCOR	ORPHA:568
HP:0011446	Abnormality of higher mental function	51185	CRBN	OMIM:607417
HP:0011446	Abnormality of higher mental function	7319	UBE2A	OMIM:300860
HP:0011446	Abnormality of higher mental function	164	AP1G1	OMIM:619467
HP:0011446	Abnormality of higher mental function	3188	HNRNPH2	OMIM:300986
HP:0011446	Abnormality of higher mental function	7915	ALDH5A1	OMIM:271980
HP:0011446	Abnormality of higher mental function	6197	RPS6KA3	ORPHA:192
HP:0011446	Abnormality of higher mental function	1182	CLCN3	OMIM:619512
HP:0011446	Abnormality of higher mental function	55773	TBC1D23	OMIM:617695
HP:0011446	Abnormality of higher mental function	5590	PRKCZ	ORPHA:1606
HP:0011446	Abnormality of higher mental function	2563	GABRD	ORPHA:1606
HP:0011446	Abnormality of higher mental function	8510	MMP23B	ORPHA:1606
HP:0011446	Abnormality of higher mental function	7798	LUZP1	ORPHA:1606
HP:0011446	Abnormality of higher mental function	6497	SKI	ORPHA:1606
HP:0011446	Abnormality of higher mental function	10630	PDPN	ORPHA:1606
HP:0011446	Abnormality of higher mental function	3339	HSPG2	ORPHA:1606
HP:0011446	Abnormality of higher mental function	10277	UBE4B	ORPHA:1606
HP:0011446	Abnormality of higher mental function	8514	KCNAB2	ORPHA:1606
HP:0011446	Abnormality of higher mental function	63976	PRDM16	ORPHA:1606
HP:0011446	Abnormality of higher mental function	54897	CASZ1	ORPHA:1606
HP:0011446	Abnormality of higher mental function	8405	SPOP	OMIM:618828
HP:0011446	Abnormality of higher mental function	8936	WASF1	OMIM:618707
HP:0011446	Abnormality of higher mental function	6134	RPL10	ORPHA:435938
HP:0011446	Abnormality of higher mental function	3251	HPRT1	OMIM:300322
HP:0011446	Abnormality of higher mental function	3800	KIF5C	OMIM:615282
HP:0011446	Abnormality of higher mental function	55164	SHQ1	OMIM:619922
HP:0011446	Abnormality of higher mental function	79633	FAT4	ORPHA:314679
HP:0011446	Abnormality of higher mental function	8642	DCHS1	ORPHA:314679
HP:0011446	Abnormality of higher mental function	26154	ABCA12	ORPHA:457
HP:0011446	Abnormality of higher mental function	84628	NTNG2	OMIM:618718
HP:0011446	Abnormality of higher mental function	10430	TMEM147	OMIM:620075
HP:0011446	Abnormality of higher mental function	2706	GJB2	ORPHA:494
HP:0011446	Abnormality of higher mental function	2702	GJA5	OMIM:612474
HP:0011446	Abnormality of higher mental function	2703	GJA8	OMIM:612474
HP:0011446	Abnormality of higher mental function	2744	GLS	OMIM:618339
HP:0011446	Abnormality of higher mental function	79955	PDZD7	ORPHA:231178
HP:0011446	Abnormality of higher mental function	25861	WHRN	ORPHA:231178
HP:0011446	Abnormality of higher mental function	6558	SLC12A2	OMIM:619081
HP:0011446	Abnormality of higher mental function	22901	ARSG	ORPHA:231183
HP:0011446	Abnormality of higher mental function	3035	HARS1	ORPHA:231183
HP:0011446	Abnormality of higher mental function	84131	CEP78	ORPHA:231183
HP:0011446	Abnormality of higher mental function	847	CAT	ORPHA:926
HP:0011446	Abnormality of higher mental function	2590	GALNT2	OMIM:618885
HP:0011446	Abnormality of higher mental function	5205	ATP8B1	ORPHA:69665
HP:0011446	Abnormality of higher mental function	8647	ABCB11	ORPHA:69665
HP:0011446	Abnormality of higher mental function	5244	ABCB4	ORPHA:69665
HP:0011446	Abnormality of higher mental function	9971	NR1H4	ORPHA:69665
HP:0011446	Abnormality of higher mental function	8996	NOL3	OMIM:614937
HP:0011446	Abnormality of higher mental function	1482	NKX2-5	ORPHA:95713
HP:0011446	Abnormality of higher mental function	1482	NKX2-5	ORPHA:95712
HP:0011446	Abnormality of higher mental function	23780	APOL2	OMIM:181500
HP:0011446	Abnormality of higher mental function	267012	DAOA	OMIM:181500
HP:0011446	Abnormality of higher mental function	6854	SYN2	OMIM:181500
HP:0011446	Abnormality of higher mental function	27184	DISC2	OMIM:181500
HP:0011446	Abnormality of higher mental function	65078	RTN4R	OMIM:181500
HP:0011446	Abnormality of higher mental function	80832	APOL4	OMIM:181500
HP:0011446	Abnormality of higher mental function	1116	CHI3L1	OMIM:181500
HP:0011447	Hyposegmentation of neutrophil nuclei	51594	NBAS	OMIM:614800
HP:0011447	Hyposegmentation of neutrophil nuclei	3930	LBR	OMIM:169400
HP:0011447	Hyposegmentation of neutrophil nuclei	3930	LBR	OMIM:618019
HP:0011447	Hyposegmentation of neutrophil nuclei	1053	CEBPE	OMIM:245480
HP:0011447	Hyposegmentation of neutrophil nuclei	1053	CEBPE	OMIM:260570
HP:0011447	Hyposegmentation of neutrophil nuclei	54790	TET2	ORPHA:75564
HP:0011447	Hyposegmentation of neutrophil nuclei	23451	SF3B1	ORPHA:75564
HP:0011447	Hyposegmentation of neutrophil nuclei	10430	TMEM147	OMIM:620075
HP:0031826	Abnormal reflex	2137	EXTL3	ORPHA:508533
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:618184
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:180800
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:118200
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:145900
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607677
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607791
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607736
HP:0031826	Abnormal reflex	8506	CNTNAP1	OMIM:618186
HP:0031826	Abnormal reflex	5393	EXOSC9	OMIM:618065
HP:0031826	Abnormal reflex	5393	EXOSC9	ORPHA:2254
HP:0031826	Abnormal reflex	8518	ELP1	ORPHA:1764
HP:0031826	Abnormal reflex	8518	ELP1	OMIM:223900
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:606071
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:600175
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:181405
HP:0031826	Abnormal reflex	22880	MORC2	OMIM:616688
HP:0031826	Abnormal reflex	22880	MORC2	OMIM:619090
HP:0031826	Abnormal reflex	23334	SZT2	OMIM:615476
HP:0031826	Abnormal reflex	23334	SZT2	ORPHA:442835
HP:0031826	Abnormal reflex	50717	DCAF8	OMIM:610100
HP:0031826	Abnormal reflex	400916	CHCHD10	OMIM:615911
HP:0031826	Abnormal reflex	400916	CHCHD10	ORPHA:275872
HP:0031826	Abnormal reflex	400916	CHCHD10	OMIM:615048
HP:0031826	Abnormal reflex	400916	CHCHD10	ORPHA:276435
HP:0031826	Abnormal reflex	19	ABCA1	OMIM:205400
HP:0031826	Abnormal reflex	54820	NDE1	ORPHA:2177
HP:0031826	Abnormal reflex	2521	FUS	ORPHA:275872
HP:0031826	Abnormal reflex	2521	FUS	OMIM:608030
HP:0031826	Abnormal reflex	8878	SQSTM1	ORPHA:275872
HP:0031826	Abnormal reflex	8878	SQSTM1	OMIM:616437
HP:0031826	Abnormal reflex	7415	VCP	ORPHA:275872
HP:0031826	Abnormal reflex	23435	TARDBP	ORPHA:275872
HP:0031826	Abnormal reflex	29110	TBK1	ORPHA:275872
HP:0031826	Abnormal reflex	29110	TBK1	OMIM:616439
HP:0031826	Abnormal reflex	51343	FZR1	OMIM:620145
HP:0031826	Abnormal reflex	51343	FZR1	ORPHA:442835
HP:0031826	Abnormal reflex	2731	GLDC	OMIM:605899
HP:0031826	Abnormal reflex	275	AMT	OMIM:605899
HP:0031826	Abnormal reflex	7879	RAB7A	OMIM:600882
HP:0031826	Abnormal reflex	5660	PSAP	OMIM:249900
HP:0031826	Abnormal reflex	5660	PSAP	ORPHA:309271
HP:0031826	Abnormal reflex	5660	PSAP	ORPHA:309263
HP:0031826	Abnormal reflex	5660	PSAP	OMIM:611722
HP:0031826	Abnormal reflex	5660	PSAP	ORPHA:309256
HP:0031826	Abnormal reflex	5660	PSAP	ORPHA:206436
HP:0031826	Abnormal reflex	4535	MT-ND1	ORPHA:255210
HP:0031826	Abnormal reflex	4536	MT-ND2	ORPHA:255210
HP:0031826	Abnormal reflex	4537	MT-ND3	ORPHA:255210
HP:0031826	Abnormal reflex	4538	MT-ND4	ORPHA:255210
HP:0031826	Abnormal reflex	4567	MT-TL1	ORPHA:255210
HP:0031826	Abnormal reflex	4578	MT-TW	ORPHA:255210
HP:0031826	Abnormal reflex	4577	MT-TV	ORPHA:255210
HP:0031826	Abnormal reflex	4508	MT-ATP6	ORPHA:255210
HP:0031826	Abnormal reflex	4540	MT-ND5	ORPHA:255210
HP:0031826	Abnormal reflex	4541	MT-ND6	ORPHA:255210
HP:0031826	Abnormal reflex	4566	MT-TK	ORPHA:255210
HP:0031826	Abnormal reflex	58	ACTA1	ORPHA:171436
HP:0031826	Abnormal reflex	58	ACTA1	ORPHA:171433
HP:0031826	Abnormal reflex	58	ACTA1	OMIM:161800
HP:0031826	Abnormal reflex	58	ACTA1	ORPHA:171439
HP:0031826	Abnormal reflex	58	ACTA1	ORPHA:97244
HP:0031826	Abnormal reflex	58	ACTA1	OMIM:616852
HP:0031826	Abnormal reflex	7169	TPM2	ORPHA:171436
HP:0031826	Abnormal reflex	7169	TPM2	ORPHA:171439
HP:0031826	Abnormal reflex	7169	TPM2	OMIM:609285
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171436
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171433
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171439
HP:0031826	Abnormal reflex	4703	NEB	OMIM:256030
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171436
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171433
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171439
HP:0031826	Abnormal reflex	56203	LMOD3	ORPHA:171436
HP:0031826	Abnormal reflex	1073	CFL2	ORPHA:171436
HP:0031826	Abnormal reflex	538	ATP7A	OMIM:300489
HP:0031826	Abnormal reflex	7170	TPM3	ORPHA:171433
HP:0031826	Abnormal reflex	7170	TPM3	ORPHA:171439
HP:0031826	Abnormal reflex	6576	SLC25A1	OMIM:618197
HP:0031826	Abnormal reflex	6576	SLC25A1	ORPHA:98914
HP:0031826	Abnormal reflex	6311	ATXN2	OMIM:183090
HP:0031826	Abnormal reflex	6311	ATXN2	ORPHA:98756
HP:0031826	Abnormal reflex	6335	SCN9A	OMIM:243000
HP:0031826	Abnormal reflex	6335	SCN9A	OMIM:201300
HP:0031826	Abnormal reflex	65082	VPS33A	OMIM:617303
HP:0031826	Abnormal reflex	65082	VPS33A	ORPHA:505248
HP:0031826	Abnormal reflex	84466	MEGF10	OMIM:614399
HP:0031826	Abnormal reflex	2314	FLII	ORPHA:819
HP:0031826	Abnormal reflex	23096	IQSEC2	ORPHA:819
HP:0031826	Abnormal reflex	10522	DEAF1	ORPHA:819
HP:0031826	Abnormal reflex	3508	IGHMBP2	OMIM:604320
HP:0031826	Abnormal reflex	3508	IGHMBP2	OMIM:616155
HP:0031826	Abnormal reflex	55768	NGLY1	ORPHA:404454
HP:0031826	Abnormal reflex	55768	NGLY1	OMIM:615273
HP:0031826	Abnormal reflex	81846	SBF2	OMIM:604563
HP:0031826	Abnormal reflex	79158	GNPTAB	OMIM:252500
HP:0031826	Abnormal reflex	57231	SNX14	ORPHA:397709
HP:0031826	Abnormal reflex	57231	SNX14	OMIM:616354
HP:0031826	Abnormal reflex	5189	PEX1	OMIM:214100
HP:0031826	Abnormal reflex	5189	PEX1	ORPHA:3220
HP:0031826	Abnormal reflex	100996717	NOTCH2NLC	OMIM:603472
HP:0031826	Abnormal reflex	100996717	NOTCH2NLC	OMIM:619473
HP:0031826	Abnormal reflex	7253	TSHR	ORPHA:90673
HP:0031826	Abnormal reflex	4625	MYH7	OMIM:160500
HP:0031826	Abnormal reflex	7252	TSHB	ORPHA:90674
HP:0031826	Abnormal reflex	410	ARSA	ORPHA:309271
HP:0031826	Abnormal reflex	410	ARSA	ORPHA:309263
HP:0031826	Abnormal reflex	410	ARSA	OMIM:250100
HP:0031826	Abnormal reflex	410	ARSA	ORPHA:309256
HP:0031826	Abnormal reflex	7259	TSPYL1	ORPHA:168593
HP:0031826	Abnormal reflex	10559	SLC35A1	OMIM:603585
HP:0031826	Abnormal reflex	60482	SLC5A7	OMIM:158580
HP:0031826	Abnormal reflex	60482	SLC5A7	ORPHA:98914
HP:0031826	Abnormal reflex	2273	FHL1	OMIM:300695
HP:0031826	Abnormal reflex	2273	FHL1	OMIM:300718
HP:0031826	Abnormal reflex	2273	FHL1	OMIM:300717
HP:0031826	Abnormal reflex	2892	GRIA3	OMIM:300699
HP:0031826	Abnormal reflex	2892	GRIA3	ORPHA:364028
HP:0031826	Abnormal reflex	1351	COX8A	OMIM:619059
HP:0031826	Abnormal reflex	4358	MPV17	OMIM:618400
HP:0031826	Abnormal reflex	4358	MPV17	OMIM:256810
HP:0031826	Abnormal reflex	55154	MSTO1	OMIM:617675
HP:0031826	Abnormal reflex	55154	MSTO1	ORPHA:502423
HP:0031826	Abnormal reflex	50484	RRM2B	OMIM:613077
HP:0031826	Abnormal reflex	50484	RRM2B	ORPHA:254892
HP:0031826	Abnormal reflex	22954	TRIM32	OMIM:254110
HP:0031826	Abnormal reflex	55157	DARS2	ORPHA:137898
HP:0031826	Abnormal reflex	55157	DARS2	OMIM:611105
HP:0031826	Abnormal reflex	311	ANXA11	OMIM:619733
HP:0031826	Abnormal reflex	93627	TBCK	OMIM:616900
HP:0031826	Abnormal reflex	2074	ERCC6	OMIM:278800
HP:0031826	Abnormal reflex	2332	FMR1	ORPHA:93256
HP:0031826	Abnormal reflex	2332	FMR1	OMIM:300623
HP:0031826	Abnormal reflex	7276	TTR	OMIM:105210
HP:0031826	Abnormal reflex	55703	POLR3B	OMIM:619742
HP:0031826	Abnormal reflex	83636	C19orf12	OMIM:614298
HP:0031826	Abnormal reflex	83636	C19orf12	OMIM:615043
HP:0031826	Abnormal reflex	2903	GRIN2A	ORPHA:289266
HP:0031826	Abnormal reflex	54872	PIGG	ORPHA:488635
HP:0031826	Abnormal reflex	54872	PIGG	OMIM:616917
HP:0031826	Abnormal reflex	246243	RNASEH1	OMIM:616479
HP:0031826	Abnormal reflex	55526	DHTKD1	OMIM:615025
HP:0031826	Abnormal reflex	26090	ABHD12	OMIM:612674
HP:0031826	Abnormal reflex	3735	KARS1	OMIM:613641
HP:0031826	Abnormal reflex	11284	PNKP	OMIM:613402
HP:0031826	Abnormal reflex	11284	PNKP	OMIM:605589
HP:0031826	Abnormal reflex	54840	APTX	OMIM:208920
HP:0031826	Abnormal reflex	79731	NARS2	OMIM:616239
HP:0031826	Abnormal reflex	2218	FKTN	OMIM:611588
HP:0031826	Abnormal reflex	2218	FKTN	ORPHA:899
HP:0031826	Abnormal reflex	3737	KCNA2	ORPHA:442835
HP:0031826	Abnormal reflex	1759	DNM1	ORPHA:442835
HP:0031826	Abnormal reflex	8120	AP3B2	ORPHA:442835
HP:0031826	Abnormal reflex	8120	AP3B2	OMIM:617276
HP:0031826	Abnormal reflex	523	ATP6V1A	ORPHA:442835
HP:0031826	Abnormal reflex	10991	SLC38A3	ORPHA:442835
HP:0031826	Abnormal reflex	22906	TRAK1	ORPHA:442835
HP:0031826	Abnormal reflex	2566	GABRG2	ORPHA:442835
HP:0031826	Abnormal reflex	1917	EEF1A2	ORPHA:442835
HP:0031826	Abnormal reflex	2561	GABRB2	ORPHA:442835
HP:0031826	Abnormal reflex	8831	SYNGAP1	ORPHA:442835
HP:0031826	Abnormal reflex	7532	YWHAG	ORPHA:442835
HP:0031826	Abnormal reflex	79876	UBA5	ORPHA:442835
HP:0031826	Abnormal reflex	6328	SCN3A	ORPHA:442835
HP:0031826	Abnormal reflex	2558	GABRA5	ORPHA:442835
HP:0031826	Abnormal reflex	781	CACNA2D1	ORPHA:442835
HP:0031826	Abnormal reflex	2906	GRIN2D	ORPHA:442835
HP:0031826	Abnormal reflex	116150	NUS1	ORPHA:442835
HP:0031826	Abnormal reflex	10659	CELF2	ORPHA:442835
HP:0031826	Abnormal reflex	774	CACNA1B	ORPHA:442835
HP:0031826	Abnormal reflex	1213	CLTC	ORPHA:442835
HP:0031826	Abnormal reflex	51741	WWOX	ORPHA:442835
HP:0031826	Abnormal reflex	51741	WWOX	ORPHA:284282
HP:0031826	Abnormal reflex	51741	WWOX	OMIM:614322
HP:0031826	Abnormal reflex	51412	ACTL6B	ORPHA:442835
HP:0031826	Abnormal reflex	348980	HCN1	ORPHA:442835
HP:0031826	Abnormal reflex	6506	SLC1A2	ORPHA:442835
HP:0031826	Abnormal reflex	8867	SYNJ1	ORPHA:442835
HP:0031826	Abnormal reflex	8867	SYNJ1	ORPHA:391411
HP:0031826	Abnormal reflex	2258	FGF13	ORPHA:442835
HP:0031826	Abnormal reflex	477	ATP1A2	ORPHA:442835
HP:0031826	Abnormal reflex	3745	KCNB1	ORPHA:442835
HP:0031826	Abnormal reflex	284111	SLC13A5	ORPHA:442835
HP:0031826	Abnormal reflex	25977	NECAP1	ORPHA:442835
HP:0031826	Abnormal reflex	16	AARS1	ORPHA:442835
HP:0031826	Abnormal reflex	16	AARS1	OMIM:613287
HP:0031826	Abnormal reflex	6334	SCN8A	ORPHA:442835
HP:0031826	Abnormal reflex	22866	CNKSR2	ORPHA:442835
HP:0031826	Abnormal reflex	9568	GABBR2	ORPHA:442835
HP:0031826	Abnormal reflex	2555	GABRA2	ORPHA:442835
HP:0031826	Abnormal reflex	55152	DALRD3	ORPHA:442835
HP:0031826	Abnormal reflex	773	CACNA1A	ORPHA:442835
HP:0031826	Abnormal reflex	26999	CYFIP2	ORPHA:442835
HP:0031826	Abnormal reflex	4915	NTRK2	ORPHA:442835
HP:0031826	Abnormal reflex	25973	PARS2	ORPHA:442835
HP:0031826	Abnormal reflex	23097	CDK19	ORPHA:442835
HP:0031826	Abnormal reflex	64801	ARV1	ORPHA:442835
HP:0031826	Abnormal reflex	79947	DHDDS	ORPHA:442835
HP:0031826	Abnormal reflex	2257	FGF12	ORPHA:442835
HP:0031826	Abnormal reflex	5530	PPP3CA	ORPHA:442835
HP:0031826	Abnormal reflex	478	ATP1A3	ORPHA:442835
HP:0031826	Abnormal reflex	9896	FIG4	OMIM:611228
HP:0031826	Abnormal reflex	9927	MFN2	OMIM:601152
HP:0031826	Abnormal reflex	9927	MFN2	OMIM:609260
HP:0031826	Abnormal reflex	9927	MFN2	OMIM:617087
HP:0031826	Abnormal reflex	5373	PMM2	OMIM:212065
HP:0031826	Abnormal reflex	5373	PMM2	ORPHA:79318
HP:0031826	Abnormal reflex	121512	FGD4	OMIM:609311
HP:0031826	Abnormal reflex	7915	ALDH5A1	OMIM:271980
HP:0031826	Abnormal reflex	2313	FLI1	ORPHA:370348
HP:0031826	Abnormal reflex	3752	KCND3	ORPHA:98772
HP:0031826	Abnormal reflex	3752	KCND3	OMIM:607346
HP:0031826	Abnormal reflex	1798	DPAGT1	ORPHA:86309
HP:0031826	Abnormal reflex	10801	SEPTIN9	OMIM:162100
HP:0031826	Abnormal reflex	23299	BICD2	ORPHA:363454
HP:0031826	Abnormal reflex	1187	CLCNKA	OMIM:613090
HP:0031826	Abnormal reflex	1188	CLCNKB	OMIM:613090
HP:0031826	Abnormal reflex	55773	TBC1D23	OMIM:617695
HP:0031826	Abnormal reflex	2318	FLNC	OMIM:614065
HP:0031826	Abnormal reflex	5626	PROP1	ORPHA:226307
HP:0031826	Abnormal reflex	89884	LHX4	ORPHA:226307
HP:0031826	Abnormal reflex	8022	LHX3	ORPHA:226307
HP:0031826	Abnormal reflex	5449	POU1F1	ORPHA:226307
HP:0031826	Abnormal reflex	8820	HESX1	ORPHA:226307
HP:0031826	Abnormal reflex	55699	IARS2	OMIM:616007
HP:0031826	Abnormal reflex	59335	PRDM12	OMIM:616488
HP:0031826	Abnormal reflex	4744	NEFH	OMIM:616924
HP:0031826	Abnormal reflex	5828	PEX2	OMIM:614867
HP:0031826	Abnormal reflex	11340	EXOSC8	ORPHA:2254
HP:0031826	Abnormal reflex	23287	AGTPBP1	ORPHA:2254
HP:0031826	Abnormal reflex	51010	EXOSC3	ORPHA:2254
HP:0031826	Abnormal reflex	7443	VRK1	ORPHA:2254
HP:0031826	Abnormal reflex	91137	SLC25A46	ORPHA:2254
HP:0031826	Abnormal reflex	91137	SLC25A46	OMIM:616505
HP:0031826	Abnormal reflex	79753	SNIP1	OMIM:614501
HP:0031826	Abnormal reflex	4191	MDH2	OMIM:617339
HP:0031826	Abnormal reflex	5190	PEX6	ORPHA:3220
HP:0031826	Abnormal reflex	23345	SYNE1	ORPHA:319332
HP:0031826	Abnormal reflex	23345	SYNE1	OMIM:618484
HP:0031826	Abnormal reflex	54499	TMCO1	OMIM:213980
HP:0031826	Abnormal reflex	100134444	KCNJ18	ORPHA:79102
HP:0031826	Abnormal reflex	100134444	KCNJ18	OMIM:613239
HP:0031826	Abnormal reflex	2556	GABRA3	ORPHA:79102
HP:0031826	Abnormal reflex	779	CACNA1S	ORPHA:79102
HP:0031826	Abnormal reflex	6606	SMN1	OMIM:253400
HP:0031826	Abnormal reflex	6607	SMN2	OMIM:253400
HP:0031826	Abnormal reflex	6609	SMPD1	OMIM:257200
HP:0031826	Abnormal reflex	92667	MGME1	ORPHA:352447
HP:0031826	Abnormal reflex	92667	MGME1	OMIM:615084
HP:0031826	Abnormal reflex	1822	ATN1	ORPHA:101
HP:0031826	Abnormal reflex	10908	PNPLA6	OMIM:215470
HP:0031826	Abnormal reflex	25814	ATXN10	ORPHA:98761
HP:0031826	Abnormal reflex	4311	MME	ORPHA:497764
HP:0031826	Abnormal reflex	4311	MME	OMIM:617018
HP:0031826	Abnormal reflex	4311	MME	OMIM:617017
HP:0031826	Abnormal reflex	23175	LPIN1	OMIM:268200
HP:0031826	Abnormal reflex	4669	NAGLU	OMIM:616491
HP:0031826	Abnormal reflex	23095	KIF1B	OMIM:118210
HP:0031826	Abnormal reflex	59336	PRDM13	OMIM:619761
HP:0031826	Abnormal reflex	59336	PRDM13	OMIM:619909
HP:0031826	Abnormal reflex	56652	TWNK	OMIM:616138
HP:0031826	Abnormal reflex	56652	TWNK	OMIM:607459
HP:0031826	Abnormal reflex	56652	TWNK	ORPHA:254892
HP:0031826	Abnormal reflex	56652	TWNK	OMIM:609286
HP:0031826	Abnormal reflex	56652	TWNK	ORPHA:70595
HP:0031826	Abnormal reflex	5192	PEX10	OMIM:614871
HP:0031826	Abnormal reflex	146227	BEAN1	ORPHA:217012
HP:0031826	Abnormal reflex	91949	COG7	ORPHA:79333
HP:0031826	Abnormal reflex	91949	COG7	OMIM:608779
HP:0031826	Abnormal reflex	6785	ELOVL4	ORPHA:1955
HP:0031826	Abnormal reflex	6785	ELOVL4	OMIM:133190
HP:0031826	Abnormal reflex	23065	EMC1	ORPHA:480898
HP:0031826	Abnormal reflex	23065	EMC1	OMIM:616875
HP:0031826	Abnormal reflex	6310	ATXN1	ORPHA:98755
HP:0031826	Abnormal reflex	38	ACAT1	ORPHA:134
HP:0031826	Abnormal reflex	23556	PIGN	OMIM:614080
HP:0031826	Abnormal reflex	23556	PIGN	ORPHA:280633
HP:0031826	Abnormal reflex	4677	NARS1	OMIM:619091
HP:0031826	Abnormal reflex	4677	NARS1	OMIM:619092
HP:0031826	Abnormal reflex	51651	PTRH2	OMIM:616263
HP:0031826	Abnormal reflex	5354	PLP1	OMIM:312080
HP:0031826	Abnormal reflex	339855	KY	OMIM:617114
HP:0031826	Abnormal reflex	26047	CNTNAP2	OMIM:610042
HP:0031826	Abnormal reflex	26047	CNTNAP2	ORPHA:163681
HP:0031826	Abnormal reflex	4099	MAG	ORPHA:459056
HP:0031826	Abnormal reflex	1374	CPT1A	OMIM:255120
HP:0031826	Abnormal reflex	23219	FBXO28	OMIM:619777
HP:0031826	Abnormal reflex	84665	MYPN	ORPHA:171439
HP:0031826	Abnormal reflex	390594	KBTBD13	ORPHA:171439
HP:0031826	Abnormal reflex	50628	GEMIN4	OMIM:617913
HP:0031826	Abnormal reflex	404672	GTF2H5	ORPHA:33364
HP:0031826	Abnormal reflex	833	CARS1	ORPHA:33364
HP:0031826	Abnormal reflex	2068	ERCC2	ORPHA:33364
HP:0031826	Abnormal reflex	2068	ERCC2	OMIM:278730
HP:0031826	Abnormal reflex	7737	RNF113A	ORPHA:33364
HP:0031826	Abnormal reflex	136647	MPLKIP	ORPHA:33364
HP:0031826	Abnormal reflex	6897	TARS1	ORPHA:33364
HP:0031826	Abnormal reflex	2071	ERCC3	ORPHA:33364
HP:0031826	Abnormal reflex	2961	GTF2E2	ORPHA:33364
HP:0031826	Abnormal reflex	3339	HSPG2	OMIM:255800
HP:0031826	Abnormal reflex	3339	HSPG2	ORPHA:800
HP:0031826	Abnormal reflex	51750	RTEL1	ORPHA:3322
HP:0031826	Abnormal reflex	65057	ACD	ORPHA:3322
HP:0031826	Abnormal reflex	5073	PARN	ORPHA:3322
HP:0031826	Abnormal reflex	7015	TERT	ORPHA:3322
HP:0031826	Abnormal reflex	26277	TINF2	ORPHA:3322
HP:0031826	Abnormal reflex	1736	DKC1	ORPHA:3322
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:79443
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:79444
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:94089
HP:0031826	Abnormal reflex	26353	HSPB8	OMIM:608673
HP:0031826	Abnormal reflex	3098	HK1	OMIM:605285
HP:0031826	Abnormal reflex	367	AR	ORPHA:481
HP:0031826	Abnormal reflex	367	AR	OMIM:313200
HP:0031826	Abnormal reflex	9217	VAPB	OMIM:182980
HP:0031826	Abnormal reflex	5428	POLG	OMIM:607459
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:254892
HP:0031826	Abnormal reflex	5428	POLG	OMIM:258450
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:254886
HP:0031826	Abnormal reflex	5428	POLG	OMIM:157640
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:70595
HP:0031826	Abnormal reflex	54463	RETREG1	OMIM:201300
HP:0031826	Abnormal reflex	54463	RETREG1	OMIM:613115
HP:0031826	Abnormal reflex	65125	WNK1	OMIM:201300
HP:0031826	Abnormal reflex	547	KIF1A	OMIM:201300
HP:0031826	Abnormal reflex	547	KIF1A	OMIM:614213
HP:0031826	Abnormal reflex	59345	GNB4	OMIM:615185
HP:0031826	Abnormal reflex	57505	AARS2	OMIM:614096
HP:0031826	Abnormal reflex	1337	COX6A1	OMIM:616039
HP:0031826	Abnormal reflex	2583	B4GALNT1	OMIM:609195
HP:0031826	Abnormal reflex	2583	B4GALNT1	ORPHA:101006
HP:0031826	Abnormal reflex	22907	DHX30	OMIM:617804
HP:0031826	Abnormal reflex	51013	EXOSC1	OMIM:619304
HP:0031826	Abnormal reflex	81603	TRIM8	OMIM:619428
HP:0031826	Abnormal reflex	57410	SCYL1	OMIM:616719
HP:0031826	Abnormal reflex	57410	SCYL1	ORPHA:466794
HP:0031826	Abnormal reflex	339453	TMEM240	OMIM:607454
HP:0031826	Abnormal reflex	23064	SETX	OMIM:606002
HP:0031826	Abnormal reflex	1959	EGR2	OMIM:145900
HP:0031826	Abnormal reflex	57716	PRX	OMIM:145900
HP:0031826	Abnormal reflex	5830	PEX5	OMIM:616716
HP:0031826	Abnormal reflex	8803	SUCLA2	ORPHA:1933
HP:0031826	Abnormal reflex	8803	SUCLA2	OMIM:612073
HP:0031826	Abnormal reflex	1785	DNM2	OMIM:606482
HP:0031826	Abnormal reflex	2617	GARS1	OMIM:601472
HP:0031826	Abnormal reflex	8729	GBF1	OMIM:606483
HP:0031826	Abnormal reflex	291	SLC25A4	ORPHA:254892
HP:0031826	Abnormal reflex	291	SLC25A4	OMIM:617184
HP:0031826	Abnormal reflex	11232	POLG2	ORPHA:254892
HP:0031826	Abnormal reflex	9488	PIGB	OMIM:618580
HP:0031826	Abnormal reflex	57190	SELENON	ORPHA:97244
HP:0031826	Abnormal reflex	3155	HMGCL	ORPHA:20
HP:0031826	Abnormal reflex	127833	SYT2	OMIM:616040
HP:0031826	Abnormal reflex	127833	SYT2	ORPHA:98914
HP:0031826	Abnormal reflex	79705	LRRK1	OMIM:615198
HP:0031826	Abnormal reflex	5193	PEX12	OMIM:266510
HP:0031826	Abnormal reflex	124997	WDR81	OMIM:610185
HP:0031826	Abnormal reflex	7167	TPI1	OMIM:615512
HP:0031826	Abnormal reflex	1410	CRYAB	ORPHA:399058
HP:0031826	Abnormal reflex	79912	PYROXD1	OMIM:617258
HP:0031826	Abnormal reflex	51807	TUBA8	ORPHA:250972
HP:0031826	Abnormal reflex	1756	DMD	OMIM:310200
HP:0031826	Abnormal reflex	1756	DMD	OMIM:300376
HP:0031826	Abnormal reflex	85358	SHANK3	OMIM:606232
HP:0031826	Abnormal reflex	2200	FBN1	ORPHA:284979
HP:0031826	Abnormal reflex	8675	STX16	ORPHA:94089
HP:0031826	Abnormal reflex	256297	PTF1A	OMIM:609069
HP:0031826	Abnormal reflex	7555	CNBP	OMIM:602668
HP:0031826	Abnormal reflex	10397	NDRG1	OMIM:601455
HP:0031826	Abnormal reflex	57465	TBC1D24	OMIM:220500
HP:0031826	Abnormal reflex	57465	TBC1D24	ORPHA:79500
HP:0031826	Abnormal reflex	91942	NDUFAF2	OMIM:618233
HP:0031826	Abnormal reflex	7084	TK2	ORPHA:254886
HP:0031826	Abnormal reflex	7084	TK2	ORPHA:254875
HP:0031826	Abnormal reflex	23114	NFASC	OMIM:618356
HP:0031826	Abnormal reflex	5191	PEX7	OMIM:266500
HP:0031826	Abnormal reflex	5264	PHYH	OMIM:266500
HP:0031826	Abnormal reflex	116461	TSEN15	OMIM:617026
HP:0031826	Abnormal reflex	50	ACO2	OMIM:614559
HP:0031826	Abnormal reflex	90678	LRSAM1	OMIM:614436
HP:0031826	Abnormal reflex	1130	LYST	OMIM:214500
HP:0031826	Abnormal reflex	84892	POMGNT2	ORPHA:899
HP:0031826	Abnormal reflex	148789	B3GALNT2	ORPHA:899
HP:0031826	Abnormal reflex	79147	FKRP	ORPHA:899
HP:0031826	Abnormal reflex	79147	FKRP	OMIM:613153
HP:0031826	Abnormal reflex	29954	POMT2	ORPHA:899
HP:0031826	Abnormal reflex	29954	POMT2	OMIM:613156
HP:0031826	Abnormal reflex	9215	LARGE1	ORPHA:899
HP:0031826	Abnormal reflex	1282	COL4A1	ORPHA:899
HP:0031826	Abnormal reflex	729920	CRPPA	ORPHA:899
HP:0031826	Abnormal reflex	10329	RXYLT1	ORPHA:899
HP:0031826	Abnormal reflex	1605	DAG1	ORPHA:899
HP:0031826	Abnormal reflex	11041	B4GAT1	ORPHA:899
HP:0031826	Abnormal reflex	10585	POMT1	ORPHA:899
HP:0031826	Abnormal reflex	84197	POMK	ORPHA:899
HP:0031826	Abnormal reflex	84197	POMK	OMIM:616094
HP:0031826	Abnormal reflex	55624	POMGNT1	ORPHA:899
HP:0031826	Abnormal reflex	4694	NDUFA1	OMIM:301020
HP:0031826	Abnormal reflex	57551	TAOK1	OMIM:619575
HP:0031826	Abnormal reflex	8888	MCM3AP	OMIM:618124
HP:0031826	Abnormal reflex	4704	NDUFA9	OMIM:618247
HP:0031826	Abnormal reflex	1621	DBH	OMIM:223360
HP:0031826	Abnormal reflex	405753	DUOXA2	ORPHA:95716
HP:0031826	Abnormal reflex	6528	SLC5A5	ORPHA:95716
HP:0031826	Abnormal reflex	7038	TG	ORPHA:95716
HP:0031826	Abnormal reflex	7173	TPO	ORPHA:95716
HP:0031826	Abnormal reflex	389434	IYD	ORPHA:95716
HP:0031826	Abnormal reflex	50506	DUOX2	ORPHA:95716
HP:0031826	Abnormal reflex	1778	DYNC1H1	OMIM:614563
HP:0031826	Abnormal reflex	1778	DYNC1H1	OMIM:614228
HP:0031826	Abnormal reflex	64856	VWA1	OMIM:619216
HP:0031826	Abnormal reflex	23203	PMPCA	OMIM:213200
HP:0031826	Abnormal reflex	3913	LAMB2	OMIM:609049
HP:0031826	Abnormal reflex	3913	LAMB2	ORPHA:98915
HP:0031826	Abnormal reflex	4361	MRE11	OMIM:604391
HP:0031826	Abnormal reflex	112812	FDX2	OMIM:251900
HP:0031826	Abnormal reflex	7809	BSND	OMIM:602522
HP:0031826	Abnormal reflex	55687	TRMU	ORPHA:254864
HP:0031826	Abnormal reflex	64423	INF2	OMIM:614455
HP:0031826	Abnormal reflex	7453	WARS1	OMIM:617721
HP:0031826	Abnormal reflex	5981	RFC1	OMIM:614575
HP:0031826	Abnormal reflex	6638	SNRPN	ORPHA:177907
HP:0031826	Abnormal reflex	81790	RNF170	OMIM:608984
HP:0031826	Abnormal reflex	5498	PPOX	ORPHA:79473
HP:0031826	Abnormal reflex	64374	SIL1	ORPHA:559
HP:0031826	Abnormal reflex	51763	INPP5K	ORPHA:559
HP:0031826	Abnormal reflex	9531	BAG3	OMIM:612954
HP:0031826	Abnormal reflex	4000	LMNA	OMIM:605588
HP:0031826	Abnormal reflex	81857	MED25	OMIM:605589
HP:0031826	Abnormal reflex	79784	MYH14	ORPHA:397744
HP:0031826	Abnormal reflex	65260	COA7	OMIM:618387
HP:0031826	Abnormal reflex	57003	CCDC47	OMIM:618268
HP:0031826	Abnormal reflex	2548	GAA	OMIM:232300
HP:0031826	Abnormal reflex	50846	DHH	OMIM:607080
HP:0031826	Abnormal reflex	526	ATP6V1B2	ORPHA:79500
HP:0031826	Abnormal reflex	7507	XPA	OMIM:278700
HP:0031826	Abnormal reflex	9829	DNAJC6	ORPHA:391411
HP:0031826	Abnormal reflex	5420	PODXL	ORPHA:391411
HP:0031826	Abnormal reflex	476	ATP1A1	OMIM:618036
HP:0031826	Abnormal reflex	5162	PDHB	OMIM:614111
HP:0031826	Abnormal reflex	54870	QRICH1	OMIM:617982
HP:0031826	Abnormal reflex	23230	VPS13A	OMIM:200150
HP:0031826	Abnormal reflex	57688	ZSWIM6	OMIM:617865
HP:0031826	Abnormal reflex	3295	HSD17B4	OMIM:233400
HP:0031826	Abnormal reflex	57570	TRMT5	OMIM:616539
HP:0031826	Abnormal reflex	4649	MYO9A	ORPHA:98914
HP:0031826	Abnormal reflex	1305	COL13A1	ORPHA:98914
HP:0031826	Abnormal reflex	1103	CHAT	ORPHA:98914
HP:0031826	Abnormal reflex	6843	VAMP1	ORPHA:98914
HP:0031826	Abnormal reflex	375790	AGRN	ORPHA:98914
HP:0031826	Abnormal reflex	6572	SLC18A3	ORPHA:98914
HP:0031826	Abnormal reflex	6616	SNAP25	ORPHA:98914
HP:0031826	Abnormal reflex	8292	COLQ	ORPHA:98915
HP:0031826	Abnormal reflex	9499	MYOT	ORPHA:98911
HP:0031826	Abnormal reflex	6663	SOX10	OMIM:609136
HP:0031826	Abnormal reflex	9516	LITAF	OMIM:601098
HP:0031826	Abnormal reflex	9759	HDAC4	OMIM:600430
HP:0031826	Abnormal reflex	10558	SPTLC1	OMIM:162400
HP:0031826	Abnormal reflex	1716	DGUOK	OMIM:617070
HP:0031826	Abnormal reflex	2629	GBA1	ORPHA:2072
HP:0031826	Abnormal reflex	9786	KIAA0586	OMIM:616546
HP:0031826	Abnormal reflex	4038	LRP4	OMIM:616304
HP:0031826	Abnormal reflex	4724	NDUFS4	OMIM:252010
HP:0031826	Abnormal reflex	60386	SLC25A19	OMIM:613710
HP:0031826	Abnormal reflex	203190	LGI3	OMIM:620007
HP:0031826	Abnormal reflex	55005	RMND1	OMIM:614922
HP:0031826	Abnormal reflex	23533	PIK3R5	OMIM:615217
HP:0031826	Abnormal reflex	2581	GALC	ORPHA:206436
HP:0031826	Abnormal reflex	1795	DOCK3	OMIM:618292
HP:0031826	Abnormal reflex	129285	PPP1R21	OMIM:619383
HP:0031826	Abnormal reflex	60684	TRAPPC11	ORPHA:369840
HP:0031826	Abnormal reflex	9181	ARHGEF2	OMIM:617523
HP:0031826	Abnormal reflex	9131	AIFM1	OMIM:300816
HP:0031826	Abnormal reflex	87178	PNPT1	OMIM:614932
HP:0031826	Abnormal reflex	9987	HNRNPDL	OMIM:609115
HP:0031826	Abnormal reflex	246329	STAC3	OMIM:255995
HP:0031826	Abnormal reflex	65055	REEP1	OMIM:620011
HP:0031826	Abnormal reflex	55775	TDP1	ORPHA:94124
HP:0031826	Abnormal reflex	55775	TDP1	OMIM:607250
HP:0031826	Abnormal reflex	79581	SLC52A2	OMIM:614707
HP:0031826	Abnormal reflex	3190	HNRNPK	ORPHA:453504
HP:0031826	Abnormal reflex	3190	HNRNPK	ORPHA:352665
HP:0031826	Abnormal reflex	5339	PLEC	ORPHA:254361
HP:0031826	Abnormal reflex	56704	JPH1	OMIM:607831
HP:0031826	Abnormal reflex	8566	PDXK	OMIM:618511
HP:0031826	Abnormal reflex	9200	HACD1	OMIM:619967
HP:0031826	Abnormal reflex	9200	HACD1	ORPHA:2020
HP:0031826	Abnormal reflex	2673	GFPT1	ORPHA:353327
HP:0031826	Abnormal reflex	199857	ALG14	ORPHA:353327
HP:0031826	Abnormal reflex	23250	ATP11A	OMIM:619851
HP:0031826	Abnormal reflex	23321	TRIM2	OMIM:615490
HP:0031826	Abnormal reflex	57449	PLEKHG5	OMIM:615376
HP:0031826	Abnormal reflex	57449	PLEKHG5	OMIM:611067
HP:0031826	Abnormal reflex	1020	CDK5	OMIM:616342
HP:0031826	Abnormal reflex	274	BIN1	OMIM:255200
HP:0031826	Abnormal reflex	274	BIN1	ORPHA:169186
HP:0031826	Abnormal reflex	1272	CNTN1	OMIM:612540
HP:0031826	Abnormal reflex	9692	PRORP	OMIM:619737
HP:0031826	Abnormal reflex	966	CD59	OMIM:612300
HP:0031826	Abnormal reflex	55681	SCYL2	OMIM:618766
HP:0031826	Abnormal reflex	55681	SCYL2	ORPHA:1143
HP:0031826	Abnormal reflex	29967	LRP12	OMIM:164310
HP:0031826	Abnormal reflex	9570	GOSR2	OMIM:620166
HP:0031826	Abnormal reflex	9570	GOSR2	OMIM:614018
HP:0031826	Abnormal reflex	8802	SUCLG1	OMIM:245400
HP:0031826	Abnormal reflex	7274	TTPA	ORPHA:96
HP:0031826	Abnormal reflex	7274	TTPA	OMIM:277460
HP:0031826	Abnormal reflex	3679	ITGA7	ORPHA:2020
HP:0031826	Abnormal reflex	51776	MAP3K20	ORPHA:2020
HP:0031826	Abnormal reflex	1303	COL12A1	OMIM:616470
HP:0031826	Abnormal reflex	1303	COL12A1	ORPHA:536516
HP:0031826	Abnormal reflex	4632	MYL1	OMIM:618414
HP:0031826	Abnormal reflex	9895	TECPR2	OMIM:615031
HP:0031826	Abnormal reflex	9895	TECPR2	ORPHA:320385
HP:0031826	Abnormal reflex	10290	SPEG	OMIM:615959
HP:0031826	Abnormal reflex	10290	SPEG	ORPHA:169186
HP:0031826	Abnormal reflex	8659	ALDH4A1	ORPHA:79101
HP:0031826	Abnormal reflex	9990	SLC12A6	OMIM:620068
HP:0031826	Abnormal reflex	9990	SLC12A6	OMIM:218000
HP:0031826	Abnormal reflex	64419	MTMR14	OMIM:160150
HP:0031826	Abnormal reflex	6305	SBF1	OMIM:615284
HP:0031826	Abnormal reflex	163175	LGI4	OMIM:617468
HP:0031826	Abnormal reflex	182	JAG1	OMIM:118450
HP:0031826	Abnormal reflex	51128	SAR1B	ORPHA:71
HP:0031826	Abnormal reflex	8565	YARS1	OMIM:608323
HP:0031826	Abnormal reflex	57104	PNPLA2	OMIM:610717
HP:0031826	Abnormal reflex	57104	PNPLA2	ORPHA:98908
HP:0031826	Abnormal reflex	9342	SNAP29	OMIM:609528
HP:0031826	Abnormal reflex	9342	SNAP29	ORPHA:66631
HP:0031826	Abnormal reflex	3300	DNAJB2	OMIM:614881
HP:0031826	Abnormal reflex	7317	UBA1	ORPHA:1145
HP:0031826	Abnormal reflex	7317	UBA1	OMIM:301830
HP:0031826	Abnormal reflex	84570	COL25A1	ORPHA:1143
HP:0031826	Abnormal reflex	57222	ERGIC1	ORPHA:1143
HP:0031826	Abnormal reflex	23479	ISCU	OMIM:255125
HP:0031826	Abnormal reflex	667	DST	OMIM:614653
HP:0031826	Abnormal reflex	23590	PDSS1	OMIM:614651
HP:0031826	Abnormal reflex	5081	PAX7	OMIM:618578
HP:0031826	Abnormal reflex	79628	SH3TC2	ORPHA:99949
HP:0031826	Abnormal reflex	56052	ALG1	OMIM:608540
HP:0031826	Abnormal reflex	7273	TTN	ORPHA:169186
HP:0031826	Abnormal reflex	353116	RILPL1	OMIM:619790
HP:0031826	Abnormal reflex	4141	MARS1	OMIM:616280
HP:0031826	Abnormal reflex	112	ADCY6	OMIM:616287
HP:0031826	Abnormal reflex	270	AMPD1	OMIM:615511
HP:0031826	Abnormal reflex	427	ASAH1	OMIM:159950
HP:0031826	Abnormal reflex	28982	FLVCR1	ORPHA:88628
HP:0031826	Abnormal reflex	28982	FLVCR1	OMIM:609033
HP:0031826	Abnormal reflex	51008	ASCC1	OMIM:616867
HP:0031826	Abnormal reflex	9325	TRIP4	OMIM:616866
HP:0031826	Abnormal reflex	51305	KCNK9	ORPHA:166108
HP:0031826	Abnormal reflex	3908	LAMA2	OMIM:618138
HP:0031826	Abnormal reflex	3908	LAMA2	OMIM:607855
HP:0031826	Abnormal reflex	2065	ERBB3	OMIM:243180
HP:0031826	Abnormal reflex	10755	GIPC1	ORPHA:98897
HP:0031826	Abnormal reflex	953	ENTPD1	ORPHA:401810
HP:0031826	Abnormal reflex	340075	ARSI	ORPHA:401815
HP:0031826	Abnormal reflex	4576	MT-TT	ORPHA:254857
HP:0031826	Abnormal reflex	8087	FXR1	OMIM:618822
HP:0031826	Abnormal reflex	8087	FXR1	OMIM:618823
HP:0031826	Abnormal reflex	1890	TYMP	OMIM:603041
HP:0031826	Abnormal reflex	4534	MTM1	OMIM:310400
HP:0031826	Abnormal reflex	283446	MYO1H	OMIM:619482
HP:0031826	Abnormal reflex	859	CAV3	ORPHA:488650
HP:0031826	Abnormal reflex	29929	ALG6	OMIM:603147
HP:0031826	Abnormal reflex	5528	PPP2R5D	ORPHA:457279
HP:0031826	Abnormal reflex	51099	ABHD5	ORPHA:98907
HP:0031826	Abnormal reflex	7515	XRCC1	OMIM:617633
HP:0031826	Abnormal reflex	9997	SCO2	ORPHA:521411
HP:0031826	Abnormal reflex	57731	SPTBN4	OMIM:617519
HP:0031826	Abnormal reflex	55331	ACER3	OMIM:617762
HP:0031826	Abnormal reflex	79587	CARS2	OMIM:616672
HP:0031826	Abnormal reflex	8449	DHX16	OMIM:618733
HP:0031826	Abnormal reflex	338	APOB	OMIM:615558
HP:0031826	Abnormal reflex	5309	PITX3	OMIM:610623
HP:0031826	Abnormal reflex	2671	GFER	ORPHA:330054
HP:0031826	Abnormal reflex	1776	DNASE1L3	ORPHA:36412
HP:0031826	Abnormal reflex	4591	TRIM37	ORPHA:2576
HP:0031826	Abnormal reflex	81839	VANGL1	ORPHA:3027
HP:0031826	Abnormal reflex	80199	FUZ	ORPHA:3027
HP:0031826	Abnormal reflex	6492	SIM1	ORPHA:398079
HP:0031826	Abnormal reflex	472	ATM	OMIM:208900
HP:0031826	Abnormal reflex	4512	MT-CO1	ORPHA:99845
HP:0031826	Abnormal reflex	4514	MT-CO3	ORPHA:99845
HP:0031826	Abnormal reflex	6329	SCN4A	ORPHA:98913
HP:0031826	Abnormal reflex	6329	SCN4A	ORPHA:682
HP:0031826	Abnormal reflex	1134	CHRNA1	ORPHA:98913
HP:0031826	Abnormal reflex	1140	CHRNB1	ORPHA:98913
HP:0031826	Abnormal reflex	1144	CHRND	ORPHA:98913
HP:0031826	Abnormal reflex	1145	CHRNE	ORPHA:98913
HP:0031826	Abnormal reflex	4593	MUSK	ORPHA:98913
HP:0031826	Abnormal reflex	5913	RAPSN	ORPHA:98913
HP:0031826	Abnormal reflex	221264	AK9	ORPHA:98913
HP:0031826	Abnormal reflex	285489	DOK7	ORPHA:98913
HP:0031826	Abnormal reflex	34	ACADM	ORPHA:42
HP:0031826	Abnormal reflex	6023	RMRP	ORPHA:175
HP:0031826	Abnormal reflex	84992	PIGY	ORPHA:247262
HP:0031826	Abnormal reflex	84720	PIGO	ORPHA:247262
HP:0031826	Abnormal reflex	93210	PGAP3	ORPHA:247262
HP:0031826	Abnormal reflex	284098	PIGW	ORPHA:247262
HP:0031826	Abnormal reflex	27315	PGAP2	ORPHA:247262
HP:0031826	Abnormal reflex	55650	PIGV	ORPHA:247262
HP:0031826	Abnormal reflex	9487	PIGL	ORPHA:247262
HP:0031826	Abnormal reflex	2073	ERCC5	ORPHA:1466
HP:0031826	Abnormal reflex	2073	ERCC5	ORPHA:910
HP:0031826	Abnormal reflex	54551	MAGEL2	ORPHA:398069
HP:0031826	Abnormal reflex	5351	PLOD1	ORPHA:1900
HP:0031826	Abnormal reflex	2010	EMD	ORPHA:98863
HP:0031826	Abnormal reflex	60681	FKBP10	ORPHA:1149
HP:0031826	Abnormal reflex	4509	MT-ATP8	ORPHA:480
HP:0031826	Abnormal reflex	5696	PSMB8	OMIM:256040
HP:0031826	Abnormal reflex	79188	TMEM43	ORPHA:98853
HP:0031826	Abnormal reflex	23224	SYNE2	ORPHA:98853
HP:0031826	Abnormal reflex	7508	XPC	ORPHA:910
HP:0031826	Abnormal reflex	1643	DDB2	ORPHA:910
HP:0031826	Abnormal reflex	4750	NEK1	OMIM:617892
HP:0031826	Abnormal reflex	3265	HRAS	ORPHA:2612
HP:0031826	Abnormal reflex	3265	HRAS	ORPHA:2874
HP:0031826	Abnormal reflex	3845	KRAS	ORPHA:2612
HP:0031826	Abnormal reflex	4893	NRAS	ORPHA:2612
HP:0031826	Abnormal reflex	1161	ERCC8	ORPHA:90324
HP:0031826	Abnormal reflex	1161	ERCC8	ORPHA:90321
HP:0031826	Abnormal reflex	51126	NAA20	OMIM:619717
HP:0031826	Abnormal reflex	7360	UGP2	OMIM:618744
HP:0031826	Abnormal reflex	84942	WDR73	OMIM:251300
HP:0031826	Abnormal reflex	2072	ERCC4	ORPHA:90321
HP:0031826	Abnormal reflex	2072	ERCC4	ORPHA:84
HP:0031826	Abnormal reflex	347733	TUBB2B	ORPHA:1766
HP:0031826	Abnormal reflex	51761	ATP8A2	ORPHA:1766
HP:0031826	Abnormal reflex	767	CA8	ORPHA:1766
HP:0031826	Abnormal reflex	5521	PPP2R2B	OMIM:604326
HP:0031826	Abnormal reflex	5521	PPP2R2B	ORPHA:98762
HP:0031826	Abnormal reflex	65993	MRPS34	OMIM:617664
HP:0031826	Abnormal reflex	10300	KATNB1	OMIM:616212
HP:0031826	Abnormal reflex	1630	DCC	OMIM:617542
HP:0031826	Abnormal reflex	10501	SEMA6B	OMIM:618876
HP:0031826	Abnormal reflex	146057	TTBK2	OMIM:604432
HP:0031826	Abnormal reflex	8575	PRKRA	ORPHA:210571
HP:0031826	Abnormal reflex	8575	PRKRA	OMIM:612067
HP:0031826	Abnormal reflex	9326	ZNHIT3	ORPHA:2836
HP:0031826	Abnormal reflex	9326	ZNHIT3	OMIM:260565
HP:0031826	Abnormal reflex	83480	PUS3	ORPHA:488627
HP:0031826	Abnormal reflex	22872	SEC31A	OMIM:618651
HP:0031826	Abnormal reflex	84504	NKX6-2	OMIM:617560
HP:0031826	Abnormal reflex	84504	NKX6-2	ORPHA:527497
HP:0031826	Abnormal reflex	2783	GNB2	OMIM:619503
HP:0031826	Abnormal reflex	54832	VPS13C	ORPHA:2828
HP:0031826	Abnormal reflex	54832	VPS13C	OMIM:616840
HP:0031826	Abnormal reflex	120892	LRRK2	ORPHA:2828
HP:0031826	Abnormal reflex	65018	PINK1	ORPHA:2828
HP:0031826	Abnormal reflex	65018	PINK1	OMIM:605909
HP:0031826	Abnormal reflex	5071	PRKN	ORPHA:2828
HP:0031826	Abnormal reflex	5071	PRKN	OMIM:600116
HP:0031826	Abnormal reflex	84879	MFSD2A	OMIM:616486
HP:0031826	Abnormal reflex	84879	MFSD2A	ORPHA:2512
HP:0031826	Abnormal reflex	27089	UQCRQ	OMIM:615159
HP:0031826	Abnormal reflex	8021	NUP214	OMIM:618426
HP:0031826	Abnormal reflex	111	ADCY5	OMIM:606703
HP:0031826	Abnormal reflex	111	ADCY5	ORPHA:324588
HP:0031826	Abnormal reflex	79796	ALG9	ORPHA:79328
HP:0031826	Abnormal reflex	79796	ALG9	OMIM:608776
HP:0031826	Abnormal reflex	54828	BCAS3	OMIM:619641
HP:0031826	Abnormal reflex	122961	ISCA2	OMIM:616370
HP:0031826	Abnormal reflex	8733	GPAA1	ORPHA:529665
HP:0031826	Abnormal reflex	8733	GPAA1	OMIM:617810
HP:0031826	Abnormal reflex	2720	GLB1	OMIM:230650
HP:0031826	Abnormal reflex	56947	MFF	ORPHA:485421
HP:0031826	Abnormal reflex	56947	MFF	OMIM:617086
HP:0031826	Abnormal reflex	79971	WLS	OMIM:619648
HP:0031826	Abnormal reflex	57462	MYORG	OMIM:618317
HP:0031826	Abnormal reflex	2729	GCLC	ORPHA:33574
HP:0031826	Abnormal reflex	1436	CSF1R	OMIM:221820
HP:0031826	Abnormal reflex	1436	CSF1R	OMIM:618476
HP:0031826	Abnormal reflex	85365	ALG2	OMIM:607906
HP:0031826	Abnormal reflex	84833	ATP5MK	OMIM:618683
HP:0031826	Abnormal reflex	125988	MICOS13	OMIM:618329
HP:0031826	Abnormal reflex	2678	GGT1	OMIM:231950
HP:0031826	Abnormal reflex	10195	ALG3	OMIM:601110
HP:0031826	Abnormal reflex	3763	KCNJ6	OMIM:614098
HP:0031826	Abnormal reflex	3763	KCNJ6	ORPHA:435628
HP:0031826	Abnormal reflex	22930	RAB3GAP1	OMIM:619420
HP:0031826	Abnormal reflex	22930	RAB3GAP1	OMIM:600118
HP:0031826	Abnormal reflex	79751	SLC25A22	ORPHA:1935
HP:0031826	Abnormal reflex	150094	SIK1	ORPHA:1935
HP:0031826	Abnormal reflex	8905	AP1S2	OMIM:304340
HP:0031826	Abnormal reflex	54808	DYM	ORPHA:239
HP:0031826	Abnormal reflex	149233	IL23R	ORPHA:117
HP:0031826	Abnormal reflex	6775	STAT4	ORPHA:117
HP:0031826	Abnormal reflex	3586	IL10	ORPHA:117
HP:0031826	Abnormal reflex	4210	MEFV	ORPHA:117
HP:0031826	Abnormal reflex	1230	CCR1	ORPHA:117
HP:0031826	Abnormal reflex	355	FAS	ORPHA:117
HP:0031826	Abnormal reflex	3592	IL12A	ORPHA:117
HP:0031826	Abnormal reflex	101928376	IL12A-AS1	ORPHA:117
HP:0031826	Abnormal reflex	3106	HLA-B	ORPHA:117
HP:0031826	Abnormal reflex	7099	TLR4	ORPHA:117
HP:0031826	Abnormal reflex	3459	IFNGR1	ORPHA:117
HP:0031826	Abnormal reflex	720	C4A	ORPHA:117
HP:0031826	Abnormal reflex	337867	UBAC2	ORPHA:117
HP:0031826	Abnormal reflex	51752	ERAP1	ORPHA:117
HP:0031826	Abnormal reflex	8302	KLRC4	ORPHA:117
HP:0031826	Abnormal reflex	7187	TRAF3	ORPHA:1930
HP:0031826	Abnormal reflex	81622	UNC93B1	ORPHA:1930
HP:0031826	Abnormal reflex	148022	TICAM1	ORPHA:1930
HP:0031826	Abnormal reflex	7098	TLR3	ORPHA:1930
HP:0031826	Abnormal reflex	1203	CLN5	ORPHA:228360
HP:0031826	Abnormal reflex	8504	PEX3	OMIM:617370
HP:0031826	Abnormal reflex	8504	PEX3	ORPHA:44
HP:0031826	Abnormal reflex	92840	REEP6	ORPHA:791
HP:0031826	Abnormal reflex	6094	ROM1	ORPHA:791
HP:0031826	Abnormal reflex	6017	RLBP1	ORPHA:791
HP:0031826	Abnormal reflex	7401	CLRN1	ORPHA:791
HP:0031826	Abnormal reflex	24	ABCA4	ORPHA:791
HP:0031826	Abnormal reflex	130557	ZNF513	ORPHA:791
HP:0031826	Abnormal reflex	582	BBS1	ORPHA:791
HP:0031826	Abnormal reflex	92211	CDHR1	ORPHA:791
HP:0031826	Abnormal reflex	23568	ARL2BP	ORPHA:791
HP:0031826	Abnormal reflex	6121	RPE65	ORPHA:791
HP:0031826	Abnormal reflex	54806	AHI1	ORPHA:791
HP:0031826	Abnormal reflex	6101	RP1	ORPHA:791
HP:0031826	Abnormal reflex	3419	IDH3A	ORPHA:791
HP:0031826	Abnormal reflex	4751	NEK2	ORPHA:791
HP:0031826	Abnormal reflex	346007	EYS	ORPHA:791
HP:0031826	Abnormal reflex	8100	IFT88	ORPHA:791
HP:0031826	Abnormal reflex	23020	SNRNP200	ORPHA:791
HP:0031826	Abnormal reflex	762	CA4	ORPHA:791
HP:0031826	Abnormal reflex	138050	HGSNAT	ORPHA:791
HP:0031826	Abnormal reflex	196	AHR	ORPHA:791
HP:0031826	Abnormal reflex	3614	IMPDH1	ORPHA:791
HP:0031826	Abnormal reflex	123016	TTC8	ORPHA:791
HP:0031826	Abnormal reflex	6103	RPGR	ORPHA:791
HP:0031826	Abnormal reflex	1406	CRX	ORPHA:791
HP:0031826	Abnormal reflex	5148	PDE6G	ORPHA:791
HP:0031826	Abnormal reflex	26160	IFT172	ORPHA:791
HP:0031826	Abnormal reflex	26121	PRPF31	ORPHA:791
HP:0031826	Abnormal reflex	583	BBS2	ORPHA:791
HP:0031826	Abnormal reflex	4117	MAK	ORPHA:791
HP:0031826	Abnormal reflex	25794	FSCN2	ORPHA:791
HP:0031826	Abnormal reflex	375298	CERKL	ORPHA:791
HP:0031826	Abnormal reflex	3420	IDH3B	ORPHA:791
HP:0031826	Abnormal reflex	57670	KIAA1549	ORPHA:791
HP:0031826	Abnormal reflex	7275	TUB	ORPHA:791
HP:0031826	Abnormal reflex	24148	PRPF6	ORPHA:791
HP:0031826	Abnormal reflex	23418	CRB1	ORPHA:791
HP:0031826	Abnormal reflex	10461	MERTK	ORPHA:791
HP:0031826	Abnormal reflex	57709	SLC7A14	ORPHA:791
HP:0031826	Abnormal reflex	768206	PRCD	ORPHA:791
HP:0031826	Abnormal reflex	7399	USH2A	ORPHA:791
HP:0031826	Abnormal reflex	23370	ARHGEF18	ORPHA:791
HP:0031826	Abnormal reflex	5949	RBP3	ORPHA:791
HP:0031826	Abnormal reflex	6010	RHO	ORPHA:791
HP:0031826	Abnormal reflex	6100	RP9	ORPHA:791
HP:0031826	Abnormal reflex	10002	NR2E3	ORPHA:791
HP:0031826	Abnormal reflex	9227	LRAT	ORPHA:791
HP:0031826	Abnormal reflex	84140	FAM161A	ORPHA:791
HP:0031826	Abnormal reflex	55812	SPATA7	ORPHA:791
HP:0031826	Abnormal reflex	79797	ZNF408	ORPHA:791
HP:0031826	Abnormal reflex	403	ARL3	ORPHA:791
HP:0031826	Abnormal reflex	5145	PDE6A	ORPHA:791
HP:0031826	Abnormal reflex	10210	TOPORS	ORPHA:791
HP:0031826	Abnormal reflex	8842	PROM1	ORPHA:791
HP:0031826	Abnormal reflex	9128	PRPF4	ORPHA:791
HP:0031826	Abnormal reflex	145226	RDH12	ORPHA:791
HP:0031826	Abnormal reflex	50939	IMPG2	ORPHA:791
HP:0031826	Abnormal reflex	8481	OFD1	ORPHA:791
HP:0031826	Abnormal reflex	49855	SCAPER	ORPHA:791
HP:0031826	Abnormal reflex	9742	IFT140	ORPHA:791
HP:0031826	Abnormal reflex	2979	GUCA1B	ORPHA:791
HP:0031826	Abnormal reflex	1259	CNGA1	ORPHA:791
HP:0031826	Abnormal reflex	1258	CNGB1	ORPHA:791
HP:0031826	Abnormal reflex	60509	AGBL5	ORPHA:791
HP:0031826	Abnormal reflex	5961	PRPH2	ORPHA:791
HP:0031826	Abnormal reflex	388939	PCARE	ORPHA:791
HP:0031826	Abnormal reflex	7439	BEST1	ORPHA:791
HP:0031826	Abnormal reflex	9785	DHX38	ORPHA:791
HP:0031826	Abnormal reflex	7287	TULP1	ORPHA:791
HP:0031826	Abnormal reflex	5995	RGR	ORPHA:791
HP:0031826	Abnormal reflex	9129	PRPF3	ORPHA:791
HP:0031826	Abnormal reflex	55975	KLHL7	ORPHA:791
HP:0031826	Abnormal reflex	3617	IMPG1	ORPHA:791
HP:0031826	Abnormal reflex	94137	RP1L1	ORPHA:791
HP:0031826	Abnormal reflex	5158	PDE6B	ORPHA:791
HP:0031826	Abnormal reflex	6102	RP2	ORPHA:791
HP:0031826	Abnormal reflex	55857	KIZ	ORPHA:791
HP:0031826	Abnormal reflex	64218	SEMA4A	ORPHA:791
HP:0031826	Abnormal reflex	4901	NRL	ORPHA:791
HP:0031826	Abnormal reflex	157657	CFAP418	ORPHA:791
HP:0031826	Abnormal reflex	10594	PRPF8	ORPHA:791
HP:0031826	Abnormal reflex	84100	ARL6	ORPHA:791
HP:0031826	Abnormal reflex	6295	SAG	ORPHA:791
HP:0031826	Abnormal reflex	374291	NDUFS7	OMIM:618224
HP:0031826	Abnormal reflex	374291	NDUFS7	ORPHA:255241
HP:0031826	Abnormal reflex	8573	CASK	OMIM:300749
HP:0031826	Abnormal reflex	85476	GFM1	OMIM:609060
HP:0031826	Abnormal reflex	4720	NDUFS2	OMIM:618228
HP:0031826	Abnormal reflex	4720	NDUFS2	ORPHA:255241
HP:0031826	Abnormal reflex	4143	MAT1A	OMIM:250850
HP:0031826	Abnormal reflex	26275	HIBCH	ORPHA:88639
HP:0031826	Abnormal reflex	55182	RNF220	OMIM:619688
HP:0031826	Abnormal reflex	518	ATP5MC3	OMIM:619681
HP:0031826	Abnormal reflex	10978	CLP1	ORPHA:411493
HP:0031826	Abnormal reflex	10978	CLP1	OMIM:615803
HP:0031826	Abnormal reflex	5053	PAH	OMIM:261600
HP:0031826	Abnormal reflex	5053	PAH	ORPHA:79254
HP:0031826	Abnormal reflex	29078	NDUFAF4	OMIM:618237
HP:0031826	Abnormal reflex	6833	ABCC8	OMIM:240800
HP:0031826	Abnormal reflex	55250	ELP2	OMIM:617270
HP:0031826	Abnormal reflex	56915	EXOSC5	OMIM:619576
HP:0031826	Abnormal reflex	51132	RLIM	OMIM:300978
HP:0031826	Abnormal reflex	25915	NDUFAF3	OMIM:618240
HP:0031826	Abnormal reflex	8260	NAA10	OMIM:300855
HP:0031826	Abnormal reflex	7965	AIMP2	OMIM:618006
HP:0031826	Abnormal reflex	549	AUH	OMIM:250950
HP:0031826	Abnormal reflex	6045	RNF2	OMIM:619460
HP:0031826	Abnormal reflex	1781	DYNC1I2	OMIM:618492
HP:0031826	Abnormal reflex	29968	PSAT1	ORPHA:284417
HP:0031826	Abnormal reflex	23258	DENND5A	OMIM:617281
HP:0031826	Abnormal reflex	9496	TBX4	ORPHA:261279
HP:0031826	Abnormal reflex	2741	GLRA1	ORPHA:3197
HP:0031826	Abnormal reflex	10243	GPHN	ORPHA:3197
HP:0031826	Abnormal reflex	10243	GPHN	OMIM:615501
HP:0031826	Abnormal reflex	84896	ATAD1	ORPHA:3197
HP:0031826	Abnormal reflex	84896	ATAD1	OMIM:618011
HP:0031826	Abnormal reflex	9758	FRMPD4	OMIM:300983
HP:0031826	Abnormal reflex	50801	KCNK4	OMIM:618381
HP:0031826	Abnormal reflex	57498	KIDINS220	OMIM:617296
HP:0031826	Abnormal reflex	1387	CREBBP	OMIM:180849
HP:0031826	Abnormal reflex	2033	EP300	OMIM:180849
HP:0031826	Abnormal reflex	92935	MARS2	ORPHA:314603
HP:0031826	Abnormal reflex	92935	MARS2	OMIM:611390
HP:0031826	Abnormal reflex	29926	GMPPA	ORPHA:869
HP:0031826	Abnormal reflex	29926	GMPPA	OMIM:615510
HP:0031826	Abnormal reflex	7204	TRIO	OMIM:617061
HP:0031826	Abnormal reflex	2571	GAD1	OMIM:619124
HP:0031826	Abnormal reflex	440138	ALG11	ORPHA:280071
HP:0031826	Abnormal reflex	79143	MBOAT7	OMIM:617188
HP:0031826	Abnormal reflex	57038	RARS2	OMIM:611523
HP:0031826	Abnormal reflex	2593	GAMT	OMIM:612736
HP:0031826	Abnormal reflex	10084	PQBP1	OMIM:309500
HP:0031826	Abnormal reflex	6571	SLC18A2	OMIM:618049
HP:0031826	Abnormal reflex	777	CACNA1E	OMIM:618285
HP:0031826	Abnormal reflex	4668	NAGA	OMIM:609241
HP:0031826	Abnormal reflex	84081	NSRP1	OMIM:620001
HP:0031826	Abnormal reflex	84153	RNASEH2C	OMIM:610329
HP:0031826	Abnormal reflex	114034	TOE1	ORPHA:284339
HP:0031826	Abnormal reflex	114034	TOE1	OMIM:614969
HP:0031826	Abnormal reflex	9562	MINPP1	ORPHA:284339
HP:0031826	Abnormal reflex	1496	CTNNA2	OMIM:618174
HP:0031826	Abnormal reflex	55315	SLC29A3	ORPHA:168569
HP:0031826	Abnormal reflex	2896	GRN	ORPHA:275864
HP:0031826	Abnormal reflex	23236	PLCB1	OMIM:613722
HP:0031826	Abnormal reflex	27445	PCLO	OMIM:608027
HP:0031826	Abnormal reflex	11113	CIT	OMIM:617090
HP:0031826	Abnormal reflex	11113	CIT	ORPHA:2512
HP:0031826	Abnormal reflex	9782	MATR3	OMIM:606070
HP:0031826	Abnormal reflex	9782	MATR3	ORPHA:600
HP:0031826	Abnormal reflex	83700	JAM3	OMIM:613730
HP:0031826	Abnormal reflex	1119	CHKA	OMIM:620023
HP:0031826	Abnormal reflex	4758	NEU1	OMIM:256550
HP:0031826	Abnormal reflex	25839	COG4	ORPHA:263501
HP:0031826	Abnormal reflex	25839	COG4	OMIM:613489
HP:0031826	Abnormal reflex	64324	NSD1	OMIM:117550
HP:0031826	Abnormal reflex	340024	SLC6A19	OMIM:234500
HP:0031826	Abnormal reflex	340024	SLC6A19	ORPHA:2116
HP:0031826	Abnormal reflex	6575	SLC20A2	OMIM:213600
HP:0031826	Abnormal reflex	5155	PDGFB	OMIM:213600
HP:0031826	Abnormal reflex	5159	PDGFRB	OMIM:213600
HP:0031826	Abnormal reflex	64087	MCCC2	OMIM:210210
HP:0031826	Abnormal reflex	672	BRCA1	ORPHA:84
HP:0031826	Abnormal reflex	10459	MAD2L2	ORPHA:84
HP:0031826	Abnormal reflex	7516	XRCC2	ORPHA:84
HP:0031826	Abnormal reflex	29089	UBE2T	ORPHA:84
HP:0031826	Abnormal reflex	675	BRCA2	ORPHA:84
HP:0031826	Abnormal reflex	55120	FANCL	ORPHA:84
HP:0031826	Abnormal reflex	2177	FANCD2	ORPHA:84
HP:0031826	Abnormal reflex	2175	FANCA	ORPHA:84
HP:0031826	Abnormal reflex	2187	FANCB	ORPHA:84
HP:0031826	Abnormal reflex	2176	FANCC	ORPHA:84
HP:0031826	Abnormal reflex	2178	FANCE	ORPHA:84
HP:0031826	Abnormal reflex	2188	FANCF	ORPHA:84
HP:0031826	Abnormal reflex	2189	FANCG	ORPHA:84
HP:0031826	Abnormal reflex	5888	RAD51	ORPHA:84
HP:0031826	Abnormal reflex	5889	RAD51C	ORPHA:84
HP:0031826	Abnormal reflex	55159	RFWD3	ORPHA:84
HP:0031826	Abnormal reflex	83990	BRIP1	ORPHA:84
HP:0031826	Abnormal reflex	57697	FANCM	ORPHA:84
HP:0031826	Abnormal reflex	79728	PALB2	ORPHA:84
HP:0031826	Abnormal reflex	84464	SLX4	ORPHA:84
HP:0031826	Abnormal reflex	55215	FANCI	ORPHA:84
HP:0031826	Abnormal reflex	9839	ZEB2	ORPHA:261552
HP:0031826	Abnormal reflex	26053	AUTS2	ORPHA:352490
HP:0031826	Abnormal reflex	10352	WARS2	ORPHA:572798
HP:0031826	Abnormal reflex	10352	WARS2	OMIM:617710
HP:0031826	Abnormal reflex	56922	MCCC1	OMIM:210200
HP:0031826	Abnormal reflex	149371	EXOC8	OMIM:619076
HP:0031826	Abnormal reflex	6804	STX1A	ORPHA:904
HP:0031826	Abnormal reflex	7461	CLIP2	ORPHA:904
HP:0031826	Abnormal reflex	84277	DNAJC30	ORPHA:904
HP:0031826	Abnormal reflex	8468	FKBP6	ORPHA:904
HP:0031826	Abnormal reflex	5982	RFC2	ORPHA:904
HP:0031826	Abnormal reflex	2969	GTF2I	ORPHA:904
HP:0031826	Abnormal reflex	3984	LIMK1	ORPHA:904
HP:0031826	Abnormal reflex	9569	GTF2IRD1	ORPHA:904
HP:0031826	Abnormal reflex	155382	VPS37D	ORPHA:904
HP:0031826	Abnormal reflex	155368	METTL27	ORPHA:904
HP:0031826	Abnormal reflex	114049	BUD23	ORPHA:904
HP:0031826	Abnormal reflex	7458	EIF4H	ORPHA:904
HP:0031826	Abnormal reflex	84163	GTF2IRD2	ORPHA:904
HP:0031826	Abnormal reflex	9275	BCL7B	ORPHA:904
HP:0031826	Abnormal reflex	26608	TBL2	ORPHA:904
HP:0031826	Abnormal reflex	653361	NCF1	ORPHA:904
HP:0031826	Abnormal reflex	135886	TMEM270	ORPHA:904
HP:0031826	Abnormal reflex	51085	MLXIPL	ORPHA:904
HP:0031826	Abnormal reflex	51085	MLXIPL	OMIM:194050
HP:0031826	Abnormal reflex	9031	BAZ1B	ORPHA:904
HP:0031826	Abnormal reflex	6507	SLC1A3	ORPHA:2131
HP:0031826	Abnormal reflex	27286	SRPX2	ORPHA:98889
HP:0031826	Abnormal reflex	3708	ITPR1	ORPHA:98769
HP:0031826	Abnormal reflex	3708	ITPR1	OMIM:606658
HP:0031826	Abnormal reflex	724066	ATXN8	ORPHA:98760
HP:0031826	Abnormal reflex	6315	ATXN8OS	ORPHA:98760
HP:0031826	Abnormal reflex	3251	HPRT1	OMIM:300322
HP:0031826	Abnormal reflex	3251	HPRT1	ORPHA:79233
HP:0031826	Abnormal reflex	6558	SLC12A2	OMIM:619080
HP:0031826	Abnormal reflex	55343	SLC35C1	ORPHA:99843
HP:0031826	Abnormal reflex	55670	PEX26	ORPHA:44
HP:0031826	Abnormal reflex	8799	PEX11B	ORPHA:44
HP:0031826	Abnormal reflex	5194	PEX13	ORPHA:44
HP:0031826	Abnormal reflex	5195	PEX14	ORPHA:44
HP:0031826	Abnormal reflex	546	ATRX	OMIM:309580
HP:0031826	Abnormal reflex	57393	CLTRN	ORPHA:2116
HP:0031826	Abnormal reflex	1384	CRAT	OMIM:617917
HP:0031826	Abnormal reflex	64116	SLC39A8	ORPHA:468699
HP:0031826	Abnormal reflex	64116	SLC39A8	OMIM:616721
HP:0031826	Abnormal reflex	200403	VWA3B	OMIM:616948
HP:0031826	Abnormal reflex	2776	GNAQ	ORPHA:3205
HP:0031826	Abnormal reflex	51142	CHCHD2	OMIM:616710
HP:0031826	Abnormal reflex	57017	COQ9	OMIM:614654
HP:0031826	Abnormal reflex	3897	L1CAM	ORPHA:2466
HP:0031826	Abnormal reflex	10075	HUWE1	OMIM:309590
HP:0031826	Abnormal reflex	55906	ZC4H2	OMIM:301041
HP:0031826	Abnormal reflex	23600	AMACR	OMIM:614307
HP:0031826	Abnormal reflex	113235	SLC46A1	ORPHA:90045
HP:0031826	Abnormal reflex	91147	TMEM67	OMIM:216360
HP:0031826	Abnormal reflex	91147	TMEM67	ORPHA:1454
HP:0031826	Abnormal reflex	5859	QARS1	OMIM:615760
HP:0031826	Abnormal reflex	2782	GNB1	OMIM:616973
HP:0031826	Abnormal reflex	91869	RFT1	OMIM:612015
HP:0031826	Abnormal reflex	6709	SPTAN1	OMIM:613477
HP:0031826	Abnormal reflex	2917	GRM7	OMIM:618922
HP:0031826	Abnormal reflex	2138	EYA1	ORPHA:2792
HP:0031826	Abnormal reflex	5075	PAX1	ORPHA:2792
HP:0031826	Abnormal reflex	259232	NALCN	OMIM:615419
HP:0031826	Abnormal reflex	100506658	OCLN	ORPHA:1229
HP:0031826	Abnormal reflex	100506658	OCLN	OMIM:251290
HP:0031826	Abnormal reflex	5582	PRKCG	OMIM:605361
HP:0031826	Abnormal reflex	56623	INPP5E	ORPHA:1454
HP:0031826	Abnormal reflex	23322	RPGRIP1L	ORPHA:1454
HP:0031826	Abnormal reflex	57545	CC2D2A	ORPHA:1454
HP:0031826	Abnormal reflex	56978	PRDM8	OMIM:616640
HP:0031826	Abnormal reflex	56978	PRDM8	ORPHA:324290
HP:0031826	Abnormal reflex	81689	ISCA1	OMIM:617613
HP:0031826	Abnormal reflex	6697	SPR	ORPHA:70594
HP:0031826	Abnormal reflex	122553	TRAPPC6B	OMIM:617862
HP:0031826	Abnormal reflex	1806	DPYD	ORPHA:1675
HP:0031826	Abnormal reflex	79867	TCTN2	OMIM:616654
HP:0031826	Abnormal reflex	55704	CCDC88A	OMIM:617507
HP:0031826	Abnormal reflex	617	BCS1L	OMIM:124000
HP:0031826	Abnormal reflex	4723	NDUFV1	ORPHA:255241
HP:0031826	Abnormal reflex	55572	FOXRED1	ORPHA:255241
HP:0031826	Abnormal reflex	4729	NDUFV2	ORPHA:255241
HP:0031826	Abnormal reflex	55967	NDUFA12	ORPHA:255241
HP:0031826	Abnormal reflex	51204	TACO1	ORPHA:255241
HP:0031826	Abnormal reflex	137682	NDUFAF6	ORPHA:255241
HP:0031826	Abnormal reflex	4722	NDUFS3	ORPHA:255241
HP:0031826	Abnormal reflex	79133	NDUFAF5	ORPHA:255241
HP:0031826	Abnormal reflex	5160	PDHA1	ORPHA:255241
HP:0031826	Abnormal reflex	1355	COX15	ORPHA:255241
HP:0031826	Abnormal reflex	1892	ECHS1	ORPHA:255241
HP:0031826	Abnormal reflex	123263	MTFMT	ORPHA:255241
HP:0031826	Abnormal reflex	51079	NDUFA13	ORPHA:255241
HP:0031826	Abnormal reflex	4705	NDUFA10	ORPHA:255241
HP:0031826	Abnormal reflex	51601	LIPT1	ORPHA:255241
HP:0031826	Abnormal reflex	4695	NDUFA2	ORPHA:255241
HP:0031826	Abnormal reflex	54888	NSUN2	OMIM:611091
HP:0031826	Abnormal reflex	440	ASNS	OMIM:615574
HP:0031826	Abnormal reflex	51294	PCDH12	OMIM:251280
HP:0031826	Abnormal reflex	9276	COPB2	ORPHA:2512
HP:0031826	Abnormal reflex	9928	KIF14	ORPHA:2512
HP:0031826	Abnormal reflex	22995	CEP152	ORPHA:2512
HP:0031826	Abnormal reflex	55262	TRAPPC14	ORPHA:2512
HP:0031826	Abnormal reflex	163786	SASS6	ORPHA:2512
HP:0031826	Abnormal reflex	4176	MCM7	ORPHA:2512
HP:0031826	Abnormal reflex	80254	CEP63	ORPHA:2512
HP:0031826	Abnormal reflex	29081	METTL5	ORPHA:2512
HP:0031826	Abnormal reflex	23310	NCAPD3	ORPHA:2512
HP:0031826	Abnormal reflex	55755	CDK5RAP2	ORPHA:2512
HP:0031826	Abnormal reflex	79648	MCPH1	ORPHA:2512
HP:0031826	Abnormal reflex	6491	STIL	ORPHA:2512
HP:0031826	Abnormal reflex	23141	ANKLE2	ORPHA:2512
HP:0031826	Abnormal reflex	259266	ASPM	ORPHA:2512
HP:0031826	Abnormal reflex	7109	TRAPPC10	ORPHA:2512
HP:0031826	Abnormal reflex	1911	PHC1	ORPHA:2512
HP:0031826	Abnormal reflex	6884	TAF13	ORPHA:2512
HP:0031826	Abnormal reflex	9662	CEP135	ORPHA:2512
HP:0031826	Abnormal reflex	55835	CENPJ	ORPHA:2512
HP:0031826	Abnormal reflex	57082	KNL1	ORPHA:2512
HP:0031826	Abnormal reflex	1021	CDK6	ORPHA:2512
HP:0031826	Abnormal reflex	2182	ACSL4	OMIM:300387
HP:0031826	Abnormal reflex	51075	TMX2	OMIM:618730
HP:0031826	Abnormal reflex	18	ABAT	OMIM:613163
HP:0031826	Abnormal reflex	2902	GRIN1	OMIM:614254
HP:0031826	Abnormal reflex	9907	AP5Z1	ORPHA:306511
HP:0031826	Abnormal reflex	5630	PRPH	OMIM:105400
HP:0031826	Abnormal reflex	158	ADSL	OMIM:103050
HP:0031826	Abnormal reflex	10466	COG5	ORPHA:263487
HP:0031826	Abnormal reflex	8367	H4C5	OMIM:619950
HP:0031826	Abnormal reflex	10785	WDR4	OMIM:618346
HP:0031826	Abnormal reflex	4574	MT-TS1	OMIM:220110
HP:0031826	Abnormal reflex	4574	MT-TS1	ORPHA:663
HP:0031826	Abnormal reflex	4570	MT-TN	OMIM:220110
HP:0031826	Abnormal reflex	4570	MT-TN	ORPHA:663
HP:0031826	Abnormal reflex	6834	SURF1	OMIM:220110
HP:0031826	Abnormal reflex	6418	SET	OMIM:618106
HP:0031826	Abnormal reflex	6323	SCN1A	OMIM:619317
HP:0031826	Abnormal reflex	5457	POU4F1	ORPHA:314647
HP:0031826	Abnormal reflex	23261	CAMTA1	ORPHA:314647
HP:0031826	Abnormal reflex	4568	MT-TL2	ORPHA:663
HP:0031826	Abnormal reflex	56997	COQ8A	ORPHA:139485
HP:0031826	Abnormal reflex	1352	COX10	OMIM:619046
HP:0031826	Abnormal reflex	10157	AASS	ORPHA:2203
HP:0031826	Abnormal reflex	2067	ERCC1	OMIM:610758
HP:0031826	Abnormal reflex	284403	WDR62	OMIM:604317
HP:0031826	Abnormal reflex	4784	NFIX	OMIM:602535
HP:0031826	Abnormal reflex	25929	GEMIN5	OMIM:619333
HP:0031826	Abnormal reflex	2660	MSTN	OMIM:614160
HP:0031826	Abnormal reflex	5119	CHMP1A	OMIM:614961
HP:0031826	Abnormal reflex	54834	GDAP2	OMIM:618369
HP:0031826	Abnormal reflex	3778	KCNMA1	OMIM:609446
HP:0031826	Abnormal reflex	9377	COX5A	OMIM:619064
HP:0031826	Abnormal reflex	11315	PARK7	OMIM:606324
HP:0031826	Abnormal reflex	132158	GLYCTK	OMIM:220120
HP:0031826	Abnormal reflex	54664	TMEM106B	OMIM:617964
HP:0031826	Abnormal reflex	9152	SLC6A5	OMIM:614618
HP:0031826	Abnormal reflex	2911	GRM1	OMIM:617691
HP:0031826	Abnormal reflex	5063	PAK3	OMIM:300558
HP:0031826	Abnormal reflex	2517	FUCA1	OMIM:230000
HP:0031826	Abnormal reflex	91461	PKDCC	OMIM:618821
HP:0031826	Abnormal reflex	166785	MMAA	OMIM:251100
HP:0031826	Abnormal reflex	23137	SMC5	OMIM:620185
HP:0031826	Abnormal reflex	51124	IER3IP1	OMIM:614231
HP:0031826	Abnormal reflex	10531	PITRM1	OMIM:619405
HP:0031826	Abnormal reflex	54676	GTPBP2	OMIM:617988
HP:0031826	Abnormal reflex	84919	PPP1R15B	OMIM:616817
HP:0031826	Abnormal reflex	84919	PPP1R15B	ORPHA:391408
HP:0031826	Abnormal reflex	93587	TRMT10A	ORPHA:391408
HP:0031826	Abnormal reflex	2799	GNS	OMIM:252940
HP:0031826	Abnormal reflex	6904	TBCD	OMIM:617193
HP:0031826	Abnormal reflex	57479	PRR12	OMIM:619539
HP:0031826	Abnormal reflex	2733	GLE1	OMIM:611890
HP:0031826	Abnormal reflex	2006	ELN	ORPHA:90348
HP:0031826	Abnormal reflex	5824	PEX19	OMIM:614886
HP:0031826	Abnormal reflex	85021	REPS1	OMIM:617916
HP:0031826	Abnormal reflex	64432	MRPS25	OMIM:619025
HP:0031826	Abnormal reflex	587	BCAT2	OMIM:618850
HP:0031826	Abnormal reflex	51645	PPIL1	OMIM:619301
HP:0031826	Abnormal reflex	51362	CDC40	OMIM:619302
HP:0031826	Abnormal reflex	84274	COQ5	OMIM:619028
HP:0031826	Abnormal reflex	10844	TUBGCP2	OMIM:618737
HP:0031826	Abnormal reflex	5091	PC	OMIM:266150
HP:0031826	Abnormal reflex	10367	MICU1	OMIM:615673
HP:0031826	Abnormal reflex	51501	HIKESHI	OMIM:616881
HP:0031826	Abnormal reflex	6711	SPTBN1	OMIM:619475
HP:0031826	Abnormal reflex	92609	TIMM50	OMIM:617698
HP:0031826	Abnormal reflex	92609	TIMM50	ORPHA:505216
HP:0031826	Abnormal reflex	29925	GMPPB	ORPHA:370959
HP:0031826	Abnormal reflex	3785	KCNQ2	ORPHA:1949
HP:0031826	Abnormal reflex	3786	KCNQ3	ORPHA:1949
HP:0031826	Abnormal reflex	6536	SLC6A9	OMIM:617301
HP:0031826	Abnormal reflex	9440	MED17	OMIM:613668
HP:0031826	Abnormal reflex	25782	RAB3GAP2	OMIM:212720
HP:0031826	Abnormal reflex	57582	KCNT1	OMIM:614959
HP:0031826	Abnormal reflex	4952	OCRL	ORPHA:534
HP:0031826	Abnormal reflex	10166	SLC25A15	ORPHA:415
HP:0031826	Abnormal reflex	10166	SLC25A15	OMIM:238970
HP:0031826	Abnormal reflex	11117	EMILIN1	OMIM:620080
HP:0031826	Abnormal reflex	100131801	PET100	OMIM:619055
HP:0031826	Abnormal reflex	51227	PIGP	OMIM:617599
HP:0031826	Abnormal reflex	819	CAMLG	OMIM:620201
HP:0031826	Abnormal reflex	4693	NDP	ORPHA:649
HP:0031826	Abnormal reflex	2801	GOLGA2	OMIM:620240
HP:0031826	Abnormal reflex	28962	OSTM1	OMIM:259720
HP:0031826	Abnormal reflex	5805	PTS	ORPHA:13
HP:0031826	Abnormal reflex	23028	KDM1A	ORPHA:477993
HP:0031826	Abnormal reflex	4633	MYL2	OMIM:619424
HP:0031826	Abnormal reflex	58497	PRUNE1	OMIM:617481
HP:0031826	Abnormal reflex	58497	PRUNE1	ORPHA:544469
HP:0031826	Abnormal reflex	133686	NADK2	OMIM:616034
HP:0031826	Abnormal reflex	27429	HTRA2	OMIM:617248
HP:0031826	Abnormal reflex	89874	SLC25A21	OMIM:618811
HP:0031826	Abnormal reflex	3475	IFRD1	ORPHA:98771
HP:0031826	Abnormal reflex	57128	LYRM4	OMIM:615595
HP:0031826	Abnormal reflex	11277	TREX1	OMIM:192315
HP:0031826	Abnormal reflex	7701	ZNF142	OMIM:618425
HP:0031826	Abnormal reflex	5361	PLXNA1	OMIM:619955
HP:0031826	Abnormal reflex	55823	VPS11	OMIM:619637
HP:0031826	Abnormal reflex	285362	SUMF1	OMIM:272200
HP:0031826	Abnormal reflex	7337	UBE3A	ORPHA:98794
HP:0031826	Abnormal reflex	7337	UBE3A	ORPHA:98795
HP:0031826	Abnormal reflex	7337	UBE3A	ORPHA:411511
HP:0031826	Abnormal reflex	4948	OCA2	ORPHA:98794
HP:0031826	Abnormal reflex	9101	USP8	ORPHA:401795
HP:0031826	Abnormal reflex	8813	DPM1	OMIM:608799
HP:0031826	Abnormal reflex	7143	TNR	OMIM:619653
HP:0031826	Abnormal reflex	8622	PDE8B	OMIM:609161
HP:0031826	Abnormal reflex	7436	VLDLR	OMIM:224050
HP:0031826	Abnormal reflex	3930	LBR	OMIM:169400
HP:0031826	Abnormal reflex	6872	TAF1	ORPHA:480907
HP:0031826	Abnormal reflex	10943	MSL3	OMIM:301032
HP:0031826	Abnormal reflex	54903	MKS1	OMIM:617121
HP:0031826	Abnormal reflex	8295	TRRAP	OMIM:618454
HP:0031826	Abnormal reflex	2752	GLUL	OMIM:610015
HP:0031826	Abnormal reflex	54209	TREM2	OMIM:618193
HP:0031826	Abnormal reflex	51324	SPG21	OMIM:248900
HP:0031826	Abnormal reflex	51324	SPG21	ORPHA:101001
HP:0031826	Abnormal reflex	4137	MAPT	OMIM:600274
HP:0031826	Abnormal reflex	4137	MAPT	OMIM:172700
HP:0031826	Abnormal reflex	5663	PSEN1	OMIM:600274
HP:0031826	Abnormal reflex	5663	PSEN1	OMIM:172700
HP:0031826	Abnormal reflex	63895	PIEZO2	OMIM:248700
HP:0031826	Abnormal reflex	4728	NDUFS8	OMIM:618222
HP:0031826	Abnormal reflex	8818	DPM2	OMIM:615042
HP:0031826	Abnormal reflex	2760	GM2A	ORPHA:309246
HP:0031826	Abnormal reflex	2760	GM2A	OMIM:272750
HP:0031826	Abnormal reflex	7305	TYROBP	OMIM:221770
HP:0031826	Abnormal reflex	8722	CTSF	OMIM:615362
HP:0031826	Abnormal reflex	6487	ST3GAL3	OMIM:615006
HP:0031826	Abnormal reflex	22931	RAB18	OMIM:614222
HP:0031826	Abnormal reflex	1786	DNMT1	ORPHA:314404
HP:0031826	Abnormal reflex	1786	DNMT1	OMIM:604121
HP:0031826	Abnormal reflex	3032	HADHB	ORPHA:746
HP:0031826	Abnormal reflex	3030	HADHA	ORPHA:746
HP:0031826	Abnormal reflex	57338	JPH3	ORPHA:98934
HP:0031826	Abnormal reflex	1639	DCTN1	OMIM:168605
HP:0031826	Abnormal reflex	1674	DES	ORPHA:98909
HP:0031826	Abnormal reflex	4618	MYF6	ORPHA:169189
HP:0031826	Abnormal reflex	8557	TCAP	OMIM:601954
HP:0031826	Abnormal reflex	8884	SLC5A6	OMIM:619903
HP:0031826	Abnormal reflex	84876	ORAI1	OMIM:615883
HP:0031826	Abnormal reflex	374393	FAM111B	OMIM:615704
HP:0031826	Abnormal reflex	3710	ITPR3	OMIM:620111
HP:0031826	Abnormal reflex	6786	STIM1	OMIM:160565
HP:0031826	Abnormal reflex	25923	ATL3	OMIM:615632
HP:0031826	Abnormal reflex	22868	FASTKD2	OMIM:618855
HP:0031826	Abnormal reflex	3094	HINT1	ORPHA:324442
HP:0031826	Abnormal reflex	8988	HSPB3	OMIM:613376
HP:0031826	Abnormal reflex	57863	CADM3	OMIM:619519
HP:0031826	Abnormal reflex	5165	PDK3	OMIM:300905
HP:0031826	Abnormal reflex	5165	PDK3	ORPHA:352675
HP:0031826	Abnormal reflex	25894	PLEKHG4	ORPHA:98765
HP:0031826	Abnormal reflex	7504	XK	OMIM:300842
HP:0031826	Abnormal reflex	55958	KLHL9	ORPHA:399081
HP:0031826	Abnormal reflex	10020	GNE	ORPHA:602
HP:0031826	Abnormal reflex	2632	GBE1	OMIM:263570
HP:0031826	Abnormal reflex	10749	KIF1C	ORPHA:397946
HP:0031826	Abnormal reflex	10749	KIF1C	OMIM:611302
HP:0031826	Abnormal reflex	85465	SELENOI	ORPHA:506353
HP:0031826	Abnormal reflex	85465	SELENOI	OMIM:618768
HP:0031826	Abnormal reflex	3064	HTT	ORPHA:399
HP:0031826	Abnormal reflex	6515	SLC2A3	ORPHA:399
HP:0031826	Abnormal reflex	4287	ATXN3	OMIM:109150
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276238
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276244
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276241
HP:0031826	Abnormal reflex	9853	RUSC2	OMIM:617773
HP:0031826	Abnormal reflex	23446	SLC44A1	OMIM:618868
HP:0031826	Abnormal reflex	6873	TAF2	OMIM:615599
HP:0031826	Abnormal reflex	6873	TAF2	ORPHA:397951
HP:0031826	Abnormal reflex	2895	GRID2	OMIM:616204
HP:0031826	Abnormal reflex	6687	SPG7	ORPHA:99013
HP:0031826	Abnormal reflex	6687	SPG7	OMIM:607259
HP:0031826	Abnormal reflex	6687	SPG7	ORPHA:35689
HP:0031826	Abnormal reflex	57165	GJC2	OMIM:608804
HP:0031826	Abnormal reflex	57165	GJC2	OMIM:613206
HP:0031826	Abnormal reflex	10528	NOP56	OMIM:614153
HP:0031826	Abnormal reflex	10528	NOP56	ORPHA:276198
HP:0031826	Abnormal reflex	1841	DTYMK	OMIM:619847
HP:0031826	Abnormal reflex	2670	GFAP	OMIM:203450
HP:0031826	Abnormal reflex	2670	GFAP	ORPHA:363722
HP:0031826	Abnormal reflex	57156	TMEM63C	OMIM:619966
HP:0031826	Abnormal reflex	219285	SAMD9L	OMIM:159550
HP:0031826	Abnormal reflex	219285	SAMD9L	OMIM:619806
HP:0031826	Abnormal reflex	9289	ADGRG1	OMIM:606854
HP:0031826	Abnormal reflex	348	APOE	OMIM:607822
HP:0031826	Abnormal reflex	7345	UCHL1	OMIM:615491
HP:0031826	Abnormal reflex	215	ABCD1	ORPHA:139399
HP:0031826	Abnormal reflex	64834	ELOVL1	OMIM:618527
HP:0031826	Abnormal reflex	7920	ABHD16A	OMIM:619735
HP:0031826	Abnormal reflex	8560	DEGS1	OMIM:618404
HP:0031826	Abnormal reflex	343641	TGM6	ORPHA:276193
HP:0031826	Abnormal reflex	343641	TGM6	OMIM:613908
HP:0031826	Abnormal reflex	857	CAV1	OMIM:606721
HP:0031826	Abnormal reflex	5297	PI4KA	OMIM:619621
HP:0031826	Abnormal reflex	5833	PCYT2	OMIM:618770
HP:0031826	Abnormal reflex	51271	UBAP1	OMIM:618418
HP:0031826	Abnormal reflex	51271	UBAP1	ORPHA:100993
HP:0031826	Abnormal reflex	492	ATP2B3	ORPHA:314978
HP:0031826	Abnormal reflex	9897	WASHC5	OMIM:603563
HP:0031826	Abnormal reflex	9897	WASHC5	ORPHA:100989
HP:0031826	Abnormal reflex	113612	CYP2U1	OMIM:615030
HP:0031826	Abnormal reflex	113612	CYP2U1	ORPHA:320411
HP:0031826	Abnormal reflex	10717	AP4B1	OMIM:614066
HP:0031826	Abnormal reflex	10717	AP4B1	ORPHA:280763
HP:0031826	Abnormal reflex	91574	MTRFR	OMIM:615035
HP:0031826	Abnormal reflex	91574	MTRFR	ORPHA:320375
HP:0031826	Abnormal reflex	51604	PIGT	OMIM:615398
HP:0031826	Abnormal reflex	11154	AP4S1	OMIM:614067
HP:0031826	Abnormal reflex	11154	AP4S1	ORPHA:280763
HP:0031826	Abnormal reflex	23259	DDHD2	OMIM:615033
HP:0031826	Abnormal reflex	54902	TTC19	OMIM:615157
HP:0031826	Abnormal reflex	23474	ETHE1	OMIM:602473
HP:0031826	Abnormal reflex	1615	DARS1	OMIM:615281
HP:0031826	Abnormal reflex	7358	UGDH	OMIM:618792
HP:0031826	Abnormal reflex	9474	ATG5	OMIM:617584
HP:0031826	Abnormal reflex	11261	CHP1	OMIM:618438
HP:0031826	Abnormal reflex	10667	FARS2	ORPHA:466722
HP:0031826	Abnormal reflex	10667	FARS2	OMIM:617046
HP:0031826	Abnormal reflex	5917	RARS1	OMIM:616140
HP:0031826	Abnormal reflex	2395	FXN	OMIM:229300
HP:0031826	Abnormal reflex	2395	FXN	ORPHA:95
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:205100
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:607225
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:606353
HP:0031826	Abnormal reflex	9725	TMEM63A	OMIM:618688
HP:0031826	Abnormal reflex	6683	SPAST	OMIM:182601
HP:0031826	Abnormal reflex	6683	SPAST	ORPHA:100985
HP:0031826	Abnormal reflex	51062	ATL1	OMIM:182600
HP:0031826	Abnormal reflex	51062	ATL1	ORPHA:100984
HP:0031826	Abnormal reflex	57192	MCOLN1	OMIM:252650
HP:0031826	Abnormal reflex	5654	HTRA1	OMIM:600142
HP:0031826	Abnormal reflex	2512	FTL	ORPHA:157846
HP:0031826	Abnormal reflex	2512	FTL	OMIM:606159
HP:0031826	Abnormal reflex	54344	DPM3	ORPHA:263494
HP:0031826	Abnormal reflex	3658	IREB2	OMIM:618451
HP:0031826	Abnormal reflex	55280	CWF19L1	ORPHA:453521
HP:0031826	Abnormal reflex	5277	PIGA	OMIM:301072
HP:0031826	Abnormal reflex	4001	LMNB1	ORPHA:99027
HP:0031826	Abnormal reflex	4001	LMNB1	OMIM:169500
HP:0031826	Abnormal reflex	23111	SPART	OMIM:275900
HP:0031826	Abnormal reflex	23111	SPART	ORPHA:101000
HP:0031826	Abnormal reflex	126129	CPT1C	OMIM:616282
HP:0031826	Abnormal reflex	126129	CPT1C	ORPHA:444099
HP:0031826	Abnormal reflex	23516	SLC39A14	OMIM:617013
HP:0031826	Abnormal reflex	23516	SLC39A14	ORPHA:521406
HP:0031826	Abnormal reflex	4719	NDUFS1	OMIM:618226
HP:0031826	Abnormal reflex	9256	TSPOAP1	ORPHA:101150
HP:0031826	Abnormal reflex	7054	TH	ORPHA:101150
HP:0031826	Abnormal reflex	27235	COQ2	OMIM:146500
HP:0031826	Abnormal reflex	123606	NIPA1	OMIM:600363
HP:0031826	Abnormal reflex	123606	NIPA1	ORPHA:100988
HP:0031826	Abnormal reflex	5631	PRPS1	ORPHA:423479
HP:0031826	Abnormal reflex	6567	SLC16A2	OMIM:300523
HP:0031826	Abnormal reflex	6567	SLC16A2	ORPHA:59
HP:0031826	Abnormal reflex	5610	EIF2AK2	OMIM:619687
HP:0031826	Abnormal reflex	6647	SOD1	OMIM:618598
HP:0031826	Abnormal reflex	8492	PRSS12	OMIM:249500
HP:0031826	Abnormal reflex	443	ASPA	ORPHA:314918
HP:0031826	Abnormal reflex	443	ASPA	ORPHA:314911
HP:0031826	Abnormal reflex	5010	CLDN11	OMIM:619328
HP:0031826	Abnormal reflex	9179	AP4M1	OMIM:612936
HP:0031826	Abnormal reflex	9179	AP4M1	ORPHA:280763
HP:0031826	Abnormal reflex	84340	GFM2	ORPHA:565624
HP:0031826	Abnormal reflex	84340	GFM2	OMIM:618397
HP:0031826	Abnormal reflex	4125	MAN2B1	OMIM:248500
HP:0031826	Abnormal reflex	80224	NUBPL	OMIM:618242
HP:0031826	Abnormal reflex	4547	MTTP	ORPHA:14
HP:0031826	Abnormal reflex	51102	MECR	OMIM:617282
HP:0031826	Abnormal reflex	5611	DNAJC3	OMIM:616192
HP:0031826	Abnormal reflex	5611	DNAJC3	ORPHA:445062
HP:0031826	Abnormal reflex	80821	DDHD1	ORPHA:101008
HP:0031826	Abnormal reflex	80821	DDHD1	OMIM:609340
HP:0031826	Abnormal reflex	1200	TPP1	OMIM:609270
HP:0031826	Abnormal reflex	1200	TPP1	ORPHA:284324
HP:0031826	Abnormal reflex	84668	HYCC1	OMIM:610532
HP:0031826	Abnormal reflex	1938	EEF2	ORPHA:101112
HP:0031826	Abnormal reflex	9197	SLC33A1	ORPHA:171863
HP:0031826	Abnormal reflex	9197	SLC33A1	OMIM:612539
HP:0031826	Abnormal reflex	26580	BSCL2	OMIM:619112
HP:0031826	Abnormal reflex	26580	BSCL2	OMIM:270685
HP:0031826	Abnormal reflex	26580	BSCL2	ORPHA:100998
HP:0031826	Abnormal reflex	3839	KPNA3	OMIM:620106
HP:0031826	Abnormal reflex	3839	KPNA3	ORPHA:171612
HP:0031826	Abnormal reflex	22978	NT5C2	ORPHA:320396
HP:0031826	Abnormal reflex	22978	NT5C2	OMIM:613162
HP:0031826	Abnormal reflex	5375	PMP2	OMIM:618279
HP:0031826	Abnormal reflex	6472	SHMT2	OMIM:619121
HP:0031826	Abnormal reflex	6253	RTN2	OMIM:604805
HP:0031826	Abnormal reflex	6253	RTN2	ORPHA:100993
HP:0031826	Abnormal reflex	5173	PDYN	ORPHA:101108
HP:0031826	Abnormal reflex	5173	PDYN	OMIM:610245
HP:0031826	Abnormal reflex	10939	AFG3L2	ORPHA:101109
HP:0031826	Abnormal reflex	10939	AFG3L2	OMIM:610246
HP:0031826	Abnormal reflex	79152	FA2H	ORPHA:171629
HP:0031826	Abnormal reflex	79152	FA2H	OMIM:612319
HP:0031826	Abnormal reflex	57704	GBA2	ORPHA:320391
HP:0031826	Abnormal reflex	57704	GBA2	OMIM:614409
HP:0031826	Abnormal reflex	57704	GBA2	ORPHA:352641
HP:0031826	Abnormal reflex	25978	CHMP2B	OMIM:600795
HP:0031826	Abnormal reflex	23636	NUP62	ORPHA:225154
HP:0031826	Abnormal reflex	103	ADAR	ORPHA:225154
HP:0031826	Abnormal reflex	3739	KCNA4	OMIM:618284
HP:0031826	Abnormal reflex	124454	EARS2	OMIM:614924
HP:0031826	Abnormal reflex	8139	GAN	ORPHA:643
HP:0031826	Abnormal reflex	54936	ADPRS	OMIM:618170
HP:0031826	Abnormal reflex	1678	TIMM8A	ORPHA:52368
HP:0031826	Abnormal reflex	84842	HPDL	OMIM:619027
HP:0031826	Abnormal reflex	25793	FBXO7	OMIM:260300
HP:0031826	Abnormal reflex	25793	FBXO7	ORPHA:171695
HP:0031826	Abnormal reflex	8398	PLA2G6	OMIM:610217
HP:0031826	Abnormal reflex	5621	PRNP	ORPHA:282166
HP:0031826	Abnormal reflex	2643	GCH1	OMIM:128230
HP:0031826	Abnormal reflex	2643	GCH1	ORPHA:98808
HP:0031826	Abnormal reflex	1593	CYP27A1	OMIM:213700
HP:0031826	Abnormal reflex	1593	CYP27A1	ORPHA:909
HP:0031826	Abnormal reflex	51218	GLRX5	ORPHA:401866
HP:0031826	Abnormal reflex	51218	GLRX5	OMIM:616859
HP:0031826	Abnormal reflex	51506	UFC1	OMIM:618076
HP:0031826	Abnormal reflex	80055	PGAP1	OMIM:615802
HP:0031826	Abnormal reflex	80055	PGAP1	ORPHA:401820
HP:0031826	Abnormal reflex	23431	AP4E1	OMIM:613744
HP:0031826	Abnormal reflex	23431	AP4E1	ORPHA:280763
HP:0031826	Abnormal reflex	25778	DSTYK	OMIM:270750
HP:0031826	Abnormal reflex	116228	COX20	OMIM:619054
HP:0031826	Abnormal reflex	64207	IRF2BPL	OMIM:618088
HP:0031826	Abnormal reflex	118813	ZFYVE27	OMIM:610244
HP:0031826	Abnormal reflex	823	CAPN1	OMIM:616907
HP:0031826	Abnormal reflex	823	CAPN1	ORPHA:488594
HP:0031826	Abnormal reflex	10273	STUB1	OMIM:618093
HP:0031826	Abnormal reflex	10273	STUB1	OMIM:615768
HP:0031826	Abnormal reflex	22	ABCB7	OMIM:301310
HP:0031826	Abnormal reflex	100303755	PET117	OMIM:619063
HP:0031826	Abnormal reflex	4697	NDUFA4	OMIM:619065
HP:0031826	Abnormal reflex	144165	PRICKLE1	OMIM:612437
HP:0031826	Abnormal reflex	1267	CNP	OMIM:619071
HP:0031826	Abnormal reflex	90624	LYRM7	OMIM:615838
HP:0031826	Abnormal reflex	64837	KLC2	OMIM:609541
HP:0031826	Abnormal reflex	80704	SLC19A3	OMIM:607483
HP:0031826	Abnormal reflex	80025	PANK2	OMIM:234200
HP:0031826	Abnormal reflex	11128	POLR3A	ORPHA:447896
HP:0031826	Abnormal reflex	11128	POLR3A	OMIM:607694
HP:0031826	Abnormal reflex	23503	ZFYVE26	OMIM:270700
HP:0031826	Abnormal reflex	23503	ZFYVE26	ORPHA:100996
HP:0031826	Abnormal reflex	9409	PEX16	OMIM:614877
HP:0031826	Abnormal reflex	8242	KDM5C	OMIM:300534
HP:0031826	Abnormal reflex	3329	HSPD1	OMIM:605280
HP:0031826	Abnormal reflex	3329	HSPD1	ORPHA:100994
HP:0031826	Abnormal reflex	3329	HSPD1	OMIM:612233
HP:0031826	Abnormal reflex	3954	LETM1	OMIM:620089
HP:0031826	Abnormal reflex	6314	ATXN7	ORPHA:94147
HP:0031826	Abnormal reflex	6314	ATXN7	OMIM:164500
HP:0031826	Abnormal reflex	84188	FAR1	ORPHA:447753
HP:0031826	Abnormal reflex	3798	KIF5A	ORPHA:100991
HP:0031826	Abnormal reflex	3798	KIF5A	OMIM:604187
HP:0031826	Abnormal reflex	6622	SNCA	ORPHA:171695
HP:0031826	Abnormal reflex	80207	OPA3	OMIM:258501
HP:0031826	Abnormal reflex	170302	ARX	OMIM:300419
HP:0031826	Abnormal reflex	51308	REEP2	OMIM:615625
HP:0031826	Abnormal reflex	1861	TOR1A	OMIM:128100
HP:0031826	Abnormal reflex	4976	OPA1	OMIM:210000
HP:0031826	Abnormal reflex	3736	KCNA1	OMIM:160120
HP:0031826	Abnormal reflex	9420	CYP7B1	ORPHA:100986
HP:0031826	Abnormal reflex	9420	CYP7B1	OMIM:270800
HP:0031826	Abnormal reflex	9150	CTDP1	OMIM:604168
HP:0031826	Abnormal reflex	55187	VPS13D	OMIM:607317
HP:0031826	Abnormal reflex	1644	DDC	OMIM:608643
HP:0031826	Abnormal reflex	84679	SLC9A7	OMIM:301024
HP:0031826	Abnormal reflex	10342	TFG	ORPHA:431329
HP:0031826	Abnormal reflex	10342	TFG	OMIM:615658
HP:0031826	Abnormal reflex	4204	MECP2	OMIM:300055
HP:0031826	Abnormal reflex	80746	TSEN2	OMIM:612389
HP:0031826	Abnormal reflex	80746	TSEN2	ORPHA:2524
HP:0031826	Abnormal reflex	1737	DLAT	ORPHA:79244
HP:0031826	Abnormal reflex	80208	SPG11	OMIM:602099
HP:0031826	Abnormal reflex	80208	SPG11	OMIM:604360
HP:0031826	Abnormal reflex	80208	SPG11	OMIM:616668
HP:0031826	Abnormal reflex	128989	TANGO2	ORPHA:480864
HP:0031826	Abnormal reflex	128637	TBC1D20	OMIM:615663
HP:0031826	Abnormal reflex	58494	JAM2	OMIM:618824
HP:0031826	Abnormal reflex	22948	CCT5	ORPHA:139578
HP:0031826	Abnormal reflex	22948	CCT5	OMIM:256840
HP:0031826	Abnormal reflex	4929	NR4A2	ORPHA:98808
HP:0031826	Abnormal reflex	3615	IMPDH2	ORPHA:98808
HP:0031826	Abnormal reflex	10613	ERLIN1	OMIM:615681
HP:0031826	Abnormal reflex	283989	TSEN54	ORPHA:2524
HP:0031826	Abnormal reflex	79042	TSEN34	ORPHA:2524
HP:0031826	Abnormal reflex	51091	SEPSECS	ORPHA:2524
HP:0031826	Abnormal reflex	271	AMPD2	OMIM:615686
HP:0031826	Abnormal reflex	6509	SLC1A4	OMIM:616657
HP:0031826	Abnormal reflex	6513	SLC2A1	OMIM:606777
HP:0031826	Abnormal reflex	8913	CACNA1G	ORPHA:458803
HP:0031826	Abnormal reflex	8913	CACNA1G	OMIM:616795
HP:0031826	Abnormal reflex	29920	PYCR2	OMIM:616420
HP:0031826	Abnormal reflex	22943	DKK1	ORPHA:268882
HP:0031826	Abnormal reflex	8086	AAAS	OMIM:231550
HP:0031826	Abnormal reflex	51663	ZFR	ORPHA:401840
HP:0031826	Abnormal reflex	84706	GPT2	ORPHA:477673
HP:0031826	Abnormal reflex	1968	EIF2S3	OMIM:300148
HP:0031826	Abnormal reflex	221927	BRAT1	OMIM:614498
HP:0031826	Abnormal reflex	9373	PLAA	OMIM:617527
HP:0031826	Abnormal reflex	10059	DNM1L	ORPHA:330050
HP:0031826	Abnormal reflex	3748	KCNC3	ORPHA:98768
HP:0031826	Abnormal reflex	131669	UROC1	ORPHA:210128
HP:0031826	Abnormal reflex	4081	MAB21L1	OMIM:618479
HP:0031826	Abnormal reflex	112476	PRRT2	ORPHA:98811
HP:0031826	Abnormal reflex	2697	GJA1	OMIM:164200
HP:0031826	Abnormal reflex	5700	PSMC1	OMIM:620071
HP:0031826	Abnormal reflex	3977	LIFR	OMIM:601559
HP:0031826	Abnormal reflex	3977	LIFR	ORPHA:3206
HP:0031826	Abnormal reflex	8604	SLC25A12	OMIM:612949
HP:0031826	Abnormal reflex	23769	FLRT1	ORPHA:320406
HP:0031826	Abnormal reflex	10280	SIGMAR1	OMIM:605726
HP:0031826	Abnormal reflex	200205	IBA57	ORPHA:468661
HP:0031826	Abnormal reflex	4841	NONO	ORPHA:466791
HP:0031826	Abnormal reflex	1327	COX4I1	OMIM:619060
HP:0031826	Abnormal reflex	3074	HEXB	ORPHA:309155
HP:0031826	Abnormal reflex	23400	ATP13A2	ORPHA:306674
HP:0031826	Abnormal reflex	55149	MTPAP	OMIM:613672
HP:0031826	Abnormal reflex	23204	ARL6IP1	OMIM:615685
HP:0031826	Abnormal reflex	23204	ARL6IP1	ORPHA:401780
HP:0031826	Abnormal reflex	6389	SDHA	ORPHA:3208
HP:0031826	Abnormal reflex	6390	SDHB	ORPHA:3208
HP:0031826	Abnormal reflex	6392	SDHD	ORPHA:3208
HP:0031826	Abnormal reflex	644096	SDHAF1	ORPHA:3208
HP:0031826	Abnormal reflex	5238	PGM3	ORPHA:443811
HP:0031826	Abnormal reflex	3035	HARS1	OMIM:614504
HP:0031826	Abnormal reflex	3035	HARS1	OMIM:616625
HP:0031826	Abnormal reflex	5832	ALDH18A1	ORPHA:447757
HP:0031826	Abnormal reflex	26278	SACS	OMIM:270550
HP:0031826	Abnormal reflex	137492	VPS37A	ORPHA:319199
HP:0031826	Abnormal reflex	9517	SPTLC2	OMIM:613640
HP:0031826	Abnormal reflex	81545	FBXO38	OMIM:615575
HP:0031826	Abnormal reflex	122622	ADSS1	ORPHA:482601
HP:0031826	Abnormal reflex	55697	VAC14	OMIM:617054
HP:0031826	Abnormal reflex	56006	SMG9	OMIM:619995
HP:0031826	Abnormal reflex	959	CD40LG	OMIM:308230
HP:0031826	Abnormal reflex	440193	CCDC88C	OMIM:616053
HP:0031826	Abnormal reflex	9338	TCEAL1	OMIM:301094
HP:0031826	Abnormal reflex	5456	POU3F4	ORPHA:1435
HP:0031826	Abnormal reflex	6712	SPTBN2	OMIM:600224
HP:0031826	Abnormal reflex	113278	SLC52A3	OMIM:211530
HP:0031826	Abnormal reflex	11155	LDB3	ORPHA:98912
HP:0031826	Abnormal reflex	10516	FBLN5	OMIM:608895
HP:0031826	Abnormal reflex	10079	ATP9A	OMIM:620242
HP:0031826	Abnormal reflex	6548	SLC9A1	OMIM:616291
HP:0031826	Abnormal reflex	54332	GDAP1	ORPHA:99948
HP:0031826	Abnormal reflex	5376	PMP22	ORPHA:90658
HP:0031826	Abnormal reflex	51	ACOX1	OMIM:618960
HP:0031826	Abnormal reflex	6261	RYR1	ORPHA:178145
HP:0031826	Abnormal reflex	3315	HSPB1	OMIM:606595
HP:0031826	Abnormal reflex	4556	MT-TE	ORPHA:2596
HP:0031826	Abnormal reflex	9711	RUBCN	OMIM:615705
HP:0031826	Abnormal reflex	10159	ATP6AP2	ORPHA:93952
HP:0031826	Abnormal reflex	8869	ST3GAL5	OMIM:609056
HP:0031826	Abnormal reflex	10381	TUBB3	ORPHA:300570
HP:0031826	Abnormal reflex	2743	GLRB	OMIM:614619
HP:0031826	Abnormal reflex	487	ATP2A1	OMIM:601003
HP:0031826	Abnormal reflex	10060	ABCC9	OMIM:619719
HP:0031826	Abnormal reflex	11160	ERLIN2	OMIM:611225
HP:0031826	Abnormal reflex	55129	ANO10	OMIM:613728
HP:0031826	Abnormal reflex	81570	CLPB	OMIM:616271
HP:0031826	Abnormal reflex	80347	COASY	OMIM:615643
HP:0031826	Abnormal reflex	11152	WDR45	OMIM:300894
HP:0031826	Abnormal reflex	4897	NRCAM	OMIM:619833
HP:0031826	Abnormal reflex	8291	DYSF	OMIM:254130
HP:0031826	Abnormal reflex	8291	DYSF	ORPHA:45448
HP:0031826	Abnormal reflex	10743	RAI1	ORPHA:477817
HP:0031826	Abnormal reflex	4747	NEFL	ORPHA:99939
HP:0031826	Abnormal reflex	2705	GJB1	ORPHA:1175
HP:0031828	Abnormal superficial reflex	10749	KIF1C	ORPHA:397946
HP:0031828	Abnormal superficial reflex	10749	KIF1C	OMIM:611302
HP:0031828	Abnormal superficial reflex	85465	SELENOI	ORPHA:506353
HP:0031828	Abnormal superficial reflex	85465	SELENOI	OMIM:618768
HP:0031828	Abnormal superficial reflex	3064	HTT	ORPHA:399
HP:0031828	Abnormal superficial reflex	6515	SLC2A3	ORPHA:399
HP:0031828	Abnormal superficial reflex	4287	ATXN3	OMIM:109150
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276238
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276244
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276241
HP:0031828	Abnormal superficial reflex	4099	MAG	OMIM:616680
HP:0031828	Abnormal superficial reflex	4099	MAG	ORPHA:459056
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	OMIM:300911
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	ORPHA:93952
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	OMIM:300423
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	ORPHA:363654
HP:0031828	Abnormal superficial reflex	9853	RUSC2	OMIM:617773
HP:0031828	Abnormal superficial reflex	23446	SLC44A1	OMIM:618868
HP:0031828	Abnormal superficial reflex	6873	TAF2	OMIM:615599
HP:0031828	Abnormal superficial reflex	6873	TAF2	ORPHA:397951
HP:0031828	Abnormal superficial reflex	2895	GRID2	OMIM:616204
HP:0031828	Abnormal superficial reflex	22880	MORC2	OMIM:616688
HP:0031828	Abnormal superficial reflex	22880	MORC2	OMIM:619090
HP:0031828	Abnormal superficial reflex	22880	MORC2	ORPHA:466768
HP:0031828	Abnormal superficial reflex	1786	DNMT1	ORPHA:314404
HP:0031828	Abnormal superficial reflex	6687	SPG7	ORPHA:99013
HP:0031828	Abnormal superficial reflex	6687	SPG7	OMIM:607259
HP:0031828	Abnormal superficial reflex	6687	SPG7	ORPHA:35689
HP:0031828	Abnormal superficial reflex	5354	PLP1	ORPHA:99015
HP:0031828	Abnormal superficial reflex	5354	PLP1	ORPHA:280229
HP:0031828	Abnormal superficial reflex	5354	PLP1	OMIM:312920
HP:0031828	Abnormal superficial reflex	57165	GJC2	OMIM:608804
HP:0031828	Abnormal superficial reflex	57165	GJC2	OMIM:613206
HP:0031828	Abnormal superficial reflex	10908	PNPLA6	ORPHA:139480
HP:0031828	Abnormal superficial reflex	10908	PNPLA6	OMIM:612020
HP:0031828	Abnormal superficial reflex	8722	CTSF	OMIM:615362
HP:0031828	Abnormal superficial reflex	200205	IBA57	OMIM:616451
HP:0031828	Abnormal superficial reflex	200205	IBA57	ORPHA:468661
HP:0031828	Abnormal superficial reflex	10528	NOP56	OMIM:614153
HP:0031828	Abnormal superficial reflex	10528	NOP56	ORPHA:276198
HP:0031828	Abnormal superficial reflex	1841	DTYMK	OMIM:619847
HP:0031828	Abnormal superficial reflex	2670	GFAP	OMIM:203450
HP:0031828	Abnormal superficial reflex	2670	GFAP	ORPHA:363722
HP:0031828	Abnormal superficial reflex	57156	TMEM63C	OMIM:619966
HP:0031828	Abnormal superficial reflex	57231	SNX14	ORPHA:397709
HP:0031828	Abnormal superficial reflex	57231	SNX14	OMIM:616354
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:314632
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	OMIM:617225
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:513436
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:306674
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	OMIM:606693
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309271
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309263
HP:0031828	Abnormal superficial reflex	410	ARSA	OMIM:250100
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309256
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309271
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309263
HP:0031828	Abnormal superficial reflex	5660	PSAP	OMIM:611721
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309256
HP:0031828	Abnormal superficial reflex	5660	PSAP	OMIM:249900
HP:0031828	Abnormal superficial reflex	219285	SAMD9L	OMIM:159550
HP:0031828	Abnormal superficial reflex	219285	SAMD9L	OMIM:619806
HP:0031828	Abnormal superficial reflex	9289	ADGRG1	OMIM:606854
HP:0031828	Abnormal superficial reflex	348	APOE	OMIM:607822
HP:0031828	Abnormal superficial reflex	5663	PSEN1	OMIM:607822
HP:0031828	Abnormal superficial reflex	7345	UCHL1	OMIM:615491
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	OMIM:616586
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	OMIM:601162
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447757
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447753
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447760
HP:0031828	Abnormal superficial reflex	215	ABCD1	ORPHA:139399
HP:0031828	Abnormal superficial reflex	64834	ELOVL1	OMIM:618527
HP:0031828	Abnormal superficial reflex	311	ANXA11	OMIM:619733
HP:0031828	Abnormal superficial reflex	7920	ABHD16A	OMIM:619735
HP:0031828	Abnormal superficial reflex	8560	DEGS1	OMIM:618404
HP:0031828	Abnormal superficial reflex	2074	ERCC6	OMIM:278800
HP:0031828	Abnormal superficial reflex	343641	TGM6	ORPHA:276193
HP:0031828	Abnormal superficial reflex	343641	TGM6	OMIM:613908
HP:0031828	Abnormal superficial reflex	857	CAV1	OMIM:606721
HP:0031828	Abnormal superficial reflex	55149	MTPAP	ORPHA:254343
HP:0031828	Abnormal superficial reflex	55149	MTPAP	OMIM:613672
HP:0031828	Abnormal superficial reflex	5297	PI4KA	OMIM:619621
HP:0031828	Abnormal superficial reflex	55703	POLR3B	OMIM:619742
HP:0031828	Abnormal superficial reflex	55703	POLR3B	OMIM:607694
HP:0031828	Abnormal superficial reflex	83636	C19orf12	OMIM:614298
HP:0031828	Abnormal superficial reflex	83636	C19orf12	OMIM:615043
HP:0031828	Abnormal superficial reflex	5833	PCYT2	OMIM:618770
HP:0031828	Abnormal superficial reflex	246243	RNASEH1	OMIM:616479
HP:0031828	Abnormal superficial reflex	51271	UBAP1	OMIM:618418
HP:0031828	Abnormal superficial reflex	51271	UBAP1	ORPHA:100993
HP:0031828	Abnormal superficial reflex	492	ATP2B3	ORPHA:314978
HP:0031828	Abnormal superficial reflex	9897	WASHC5	OMIM:603563
HP:0031828	Abnormal superficial reflex	9897	WASHC5	ORPHA:100989
HP:0031828	Abnormal superficial reflex	113612	CYP2U1	OMIM:615030
HP:0031828	Abnormal superficial reflex	113612	CYP2U1	ORPHA:320411
HP:0031828	Abnormal superficial reflex	10717	AP4B1	OMIM:614066
HP:0031828	Abnormal superficial reflex	10717	AP4B1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	91574	MTRFR	OMIM:615035
HP:0031828	Abnormal superficial reflex	91574	MTRFR	ORPHA:320375
HP:0031828	Abnormal superficial reflex	51604	PIGT	OMIM:615398
HP:0031828	Abnormal superficial reflex	11154	AP4S1	OMIM:614067
HP:0031828	Abnormal superficial reflex	11154	AP4S1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	23259	DDHD2	OMIM:615033
HP:0031828	Abnormal superficial reflex	54902	TTC19	OMIM:615157
HP:0031828	Abnormal superficial reflex	4191	MDH2	OMIM:617339
HP:0031828	Abnormal superficial reflex	23474	ETHE1	OMIM:602473
HP:0031828	Abnormal superficial reflex	1615	DARS1	OMIM:615281
HP:0031828	Abnormal superficial reflex	7358	UGDH	OMIM:618792
HP:0031828	Abnormal superficial reflex	9474	ATG5	OMIM:617584
HP:0031828	Abnormal superficial reflex	6506	SLC1A2	OMIM:617105
HP:0031828	Abnormal superficial reflex	25973	PARS2	OMIM:618437
HP:0031828	Abnormal superficial reflex	11261	CHP1	OMIM:618438
HP:0031828	Abnormal superficial reflex	10667	FARS2	ORPHA:466722
HP:0031828	Abnormal superficial reflex	10667	FARS2	OMIM:617046
HP:0031828	Abnormal superficial reflex	56652	TWNK	OMIM:271245
HP:0031828	Abnormal superficial reflex	56652	TWNK	OMIM:607459
HP:0031828	Abnormal superficial reflex	10280	SIGMAR1	OMIM:605726
HP:0031828	Abnormal superficial reflex	23299	BICD2	OMIM:615290
HP:0031828	Abnormal superficial reflex	5981	RFC1	ORPHA:504476
HP:0031828	Abnormal superficial reflex	5917	RARS1	OMIM:616140
HP:0031828	Abnormal superficial reflex	339855	KY	ORPHA:496689
HP:0031828	Abnormal superficial reflex	2395	FXN	OMIM:229300
HP:0031828	Abnormal superficial reflex	2395	FXN	ORPHA:95
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:205100
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:607225
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:606353
HP:0031828	Abnormal superficial reflex	9725	TMEM63A	OMIM:618688
HP:0031828	Abnormal superficial reflex	6683	SPAST	OMIM:182601
HP:0031828	Abnormal superficial reflex	6683	SPAST	ORPHA:100985
HP:0031828	Abnormal superficial reflex	51062	ATL1	OMIM:182600
HP:0031828	Abnormal superficial reflex	51062	ATL1	ORPHA:100984
HP:0031828	Abnormal superficial reflex	6843	VAMP1	ORPHA:251282
HP:0031828	Abnormal superficial reflex	57192	MCOLN1	OMIM:252650
HP:0031828	Abnormal superficial reflex	5654	HTRA1	OMIM:600142
HP:0031828	Abnormal superficial reflex	2512	FTL	ORPHA:157846
HP:0031828	Abnormal superficial reflex	2512	FTL	OMIM:606159
HP:0031828	Abnormal superficial reflex	54344	DPM3	ORPHA:263494
HP:0031828	Abnormal superficial reflex	3658	IREB2	OMIM:618451
HP:0031828	Abnormal superficial reflex	55280	CWF19L1	ORPHA:453521
HP:0031828	Abnormal superficial reflex	2583	B4GALNT1	OMIM:609195
HP:0031828	Abnormal superficial reflex	2583	B4GALNT1	ORPHA:101006
HP:0031828	Abnormal superficial reflex	5277	PIGA	OMIM:301072
HP:0031828	Abnormal superficial reflex	4001	LMNB1	ORPHA:99027
HP:0031828	Abnormal superficial reflex	4001	LMNB1	OMIM:169500
HP:0031828	Abnormal superficial reflex	23064	SETX	OMIM:602433
HP:0031828	Abnormal superficial reflex	23064	SETX	ORPHA:64753
HP:0031828	Abnormal superficial reflex	23064	SETX	ORPHA:357043
HP:0031828	Abnormal superficial reflex	23111	SPART	OMIM:275900
HP:0031828	Abnormal superficial reflex	23111	SPART	ORPHA:101000
HP:0031828	Abnormal superficial reflex	126129	CPT1C	OMIM:616282
HP:0031828	Abnormal superficial reflex	126129	CPT1C	ORPHA:444099
HP:0031828	Abnormal superficial reflex	23516	SLC39A14	OMIM:617013
HP:0031828	Abnormal superficial reflex	23516	SLC39A14	ORPHA:521406
HP:0031828	Abnormal superficial reflex	23345	SYNE1	ORPHA:88644
HP:0031828	Abnormal superficial reflex	4719	NDUFS1	OMIM:618226
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:320360
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:225154
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:644
HP:0031828	Abnormal superficial reflex	5428	POLG	OMIM:258450
HP:0031828	Abnormal superficial reflex	5428	POLG	OMIM:607459
HP:0031828	Abnormal superficial reflex	9256	TSPOAP1	ORPHA:101150
HP:0031828	Abnormal superficial reflex	7054	TH	ORPHA:101150
HP:0031828	Abnormal superficial reflex	27235	COQ2	OMIM:146500
HP:0031828	Abnormal superficial reflex	11160	ERLIN2	ORPHA:209951
HP:0031828	Abnormal superficial reflex	11160	ERLIN2	OMIM:611225
HP:0031828	Abnormal superficial reflex	123606	NIPA1	OMIM:600363
HP:0031828	Abnormal superficial reflex	123606	NIPA1	ORPHA:100988
HP:0031828	Abnormal superficial reflex	5631	PRPS1	ORPHA:423479
HP:0031828	Abnormal superficial reflex	6567	SLC16A2	OMIM:300523
HP:0031828	Abnormal superficial reflex	6567	SLC16A2	ORPHA:59
HP:0031828	Abnormal superficial reflex	81790	RNF170	OMIM:619686
HP:0031828	Abnormal superficial reflex	81790	RNF170	OMIM:608984
HP:0031828	Abnormal superficial reflex	23114	NFASC	OMIM:618356
HP:0031828	Abnormal superficial reflex	5610	EIF2AK2	OMIM:619687
HP:0031828	Abnormal superficial reflex	6647	SOD1	OMIM:618598
HP:0031828	Abnormal superficial reflex	25814	ATXN10	OMIM:603516
HP:0031828	Abnormal superficial reflex	25814	ATXN10	ORPHA:98761
HP:0031828	Abnormal superficial reflex	116461	TSEN15	OMIM:617026
HP:0031828	Abnormal superficial reflex	116461	TSEN15	ORPHA:2524
HP:0031828	Abnormal superficial reflex	8492	PRSS12	OMIM:249500
HP:0031828	Abnormal superficial reflex	443	ASPA	ORPHA:314918
HP:0031828	Abnormal superficial reflex	443	ASPA	ORPHA:314911
HP:0031828	Abnormal superficial reflex	5010	CLDN11	OMIM:619328
HP:0031828	Abnormal superficial reflex	2581	GALC	ORPHA:206448
HP:0031828	Abnormal superficial reflex	9179	AP4M1	OMIM:612936
HP:0031828	Abnormal superficial reflex	9179	AP4M1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	16	AARS1	OMIM:619691
HP:0031828	Abnormal superficial reflex	547	KIF1A	ORPHA:101010
HP:0031828	Abnormal superficial reflex	547	KIF1A	OMIM:610357
HP:0031828	Abnormal superficial reflex	547	KIF1A	OMIM:614255
HP:0031828	Abnormal superficial reflex	84340	GFM2	ORPHA:565624
HP:0031828	Abnormal superficial reflex	84340	GFM2	OMIM:618397
HP:0031828	Abnormal superficial reflex	8878	SQSTM1	OMIM:617158
HP:0031828	Abnormal superficial reflex	8878	SQSTM1	ORPHA:275872
HP:0031828	Abnormal superficial reflex	4125	MAN2B1	OMIM:248500
HP:0031828	Abnormal superficial reflex	80224	NUBPL	OMIM:618242
HP:0031828	Abnormal superficial reflex	4547	MTTP	ORPHA:14
HP:0031828	Abnormal superficial reflex	51102	MECR	OMIM:617282
HP:0031828	Abnormal superficial reflex	5611	DNAJC3	OMIM:616192
HP:0031828	Abnormal superficial reflex	5611	DNAJC3	ORPHA:445062
HP:0031828	Abnormal superficial reflex	80821	DDHD1	ORPHA:101008
HP:0031828	Abnormal superficial reflex	80821	DDHD1	OMIM:609340
HP:0031828	Abnormal superficial reflex	2705	GJB1	OMIM:302800
HP:0031828	Abnormal superficial reflex	2705	GJB1	ORPHA:1175
HP:0031828	Abnormal superficial reflex	1200	TPP1	OMIM:609270
HP:0031828	Abnormal superficial reflex	1200	TPP1	ORPHA:284324
HP:0031828	Abnormal superficial reflex	84668	HYCC1	OMIM:610532
HP:0031828	Abnormal superficial reflex	87178	PNPT1	ORPHA:101111
HP:0031828	Abnormal superficial reflex	87178	PNPT1	OMIM:608703
HP:0031828	Abnormal superficial reflex	1938	EEF2	ORPHA:101112
HP:0031828	Abnormal superficial reflex	9197	SLC33A1	ORPHA:171863
HP:0031828	Abnormal superficial reflex	9197	SLC33A1	OMIM:612539
HP:0031828	Abnormal superficial reflex	2892	GRIA3	ORPHA:364028
HP:0031828	Abnormal superficial reflex	26580	BSCL2	OMIM:619112
HP:0031828	Abnormal superficial reflex	26580	BSCL2	OMIM:270685
HP:0031828	Abnormal superficial reflex	26580	BSCL2	ORPHA:100998
HP:0031828	Abnormal superficial reflex	9927	MFN2	OMIM:609260
HP:0031828	Abnormal superficial reflex	9927	MFN2	ORPHA:99947
HP:0031828	Abnormal superficial reflex	3839	KPNA3	OMIM:620106
HP:0031828	Abnormal superficial reflex	3839	KPNA3	ORPHA:171612
HP:0031828	Abnormal superficial reflex	538	ATP7A	OMIM:309400
HP:0031828	Abnormal superficial reflex	3032	HADHB	ORPHA:746
HP:0031828	Abnormal superficial reflex	3030	HADHA	ORPHA:746
HP:0031828	Abnormal superficial reflex	22978	NT5C2	ORPHA:320396
HP:0031828	Abnormal superficial reflex	22978	NT5C2	OMIM:613162
HP:0031828	Abnormal superficial reflex	5375	PMP2	OMIM:618279
HP:0031828	Abnormal superficial reflex	6472	SHMT2	OMIM:619121
HP:0031828	Abnormal superficial reflex	6253	RTN2	OMIM:604805
HP:0031828	Abnormal superficial reflex	6253	RTN2	ORPHA:100993
HP:0031828	Abnormal superficial reflex	5173	PDYN	ORPHA:101108
HP:0031828	Abnormal superficial reflex	5173	PDYN	OMIM:610245
HP:0031828	Abnormal superficial reflex	10939	AFG3L2	ORPHA:101109
HP:0031828	Abnormal superficial reflex	10939	AFG3L2	OMIM:610246
HP:0031828	Abnormal superficial reflex	79152	FA2H	ORPHA:171629
HP:0031828	Abnormal superficial reflex	79152	FA2H	OMIM:612319
HP:0031828	Abnormal superficial reflex	57704	GBA2	ORPHA:320391
HP:0031828	Abnormal superficial reflex	57704	GBA2	OMIM:614409
HP:0031828	Abnormal superficial reflex	57704	GBA2	ORPHA:352641
HP:0031828	Abnormal superficial reflex	26278	SACS	OMIM:270550
HP:0031828	Abnormal superficial reflex	26278	SACS	ORPHA:98
HP:0031828	Abnormal superficial reflex	25978	CHMP2B	OMIM:600795
HP:0031828	Abnormal superficial reflex	23636	NUP62	ORPHA:225154
HP:0031828	Abnormal superficial reflex	103	ADAR	ORPHA:225154
HP:0031828	Abnormal superficial reflex	6389	SDHA	OMIM:619259
HP:0031828	Abnormal superficial reflex	6389	SDHA	ORPHA:3208
HP:0031828	Abnormal superficial reflex	6389	SDHA	OMIM:252011
HP:0031828	Abnormal superficial reflex	3739	KCNA4	OMIM:618284
HP:0031828	Abnormal superficial reflex	7415	VCP	OMIM:613954
HP:0031828	Abnormal superficial reflex	7415	VCP	ORPHA:275872
HP:0031828	Abnormal superficial reflex	7415	VCP	ORPHA:329475
HP:0031828	Abnormal superficial reflex	124454	EARS2	OMIM:614924
HP:0031828	Abnormal superficial reflex	8139	GAN	ORPHA:643
HP:0031828	Abnormal superficial reflex	54936	ADPRS	OMIM:618170
HP:0031828	Abnormal superficial reflex	1678	TIMM8A	ORPHA:52368
HP:0031828	Abnormal superficial reflex	84842	HPDL	OMIM:619027
HP:0031828	Abnormal superficial reflex	25793	FBXO7	OMIM:260300
HP:0031828	Abnormal superficial reflex	25793	FBXO7	ORPHA:171695
HP:0031828	Abnormal superficial reflex	8398	PLA2G6	OMIM:610217
HP:0031828	Abnormal superficial reflex	55129	ANO10	OMIM:613728
HP:0031828	Abnormal superficial reflex	5621	PRNP	ORPHA:282166
HP:0031828	Abnormal superficial reflex	2643	GCH1	OMIM:128230
HP:0031828	Abnormal superficial reflex	2643	GCH1	ORPHA:98808
HP:0031828	Abnormal superficial reflex	9131	AIFM1	OMIM:300232
HP:0031828	Abnormal superficial reflex	9131	AIFM1	ORPHA:83629
HP:0031828	Abnormal superficial reflex	8506	CNTNAP1	OMIM:618186
HP:0031828	Abnormal superficial reflex	400916	CHCHD10	OMIM:615911
HP:0031828	Abnormal superficial reflex	400916	CHCHD10	ORPHA:275872
HP:0031828	Abnormal superficial reflex	1593	CYP27A1	OMIM:213700
HP:0031828	Abnormal superficial reflex	1593	CYP27A1	ORPHA:909
HP:0031828	Abnormal superficial reflex	2521	FUS	ORPHA:275872
HP:0031828	Abnormal superficial reflex	23435	TARDBP	ORPHA:275872
HP:0031828	Abnormal superficial reflex	23435	TARDBP	OMIM:612069
HP:0031828	Abnormal superficial reflex	29110	TBK1	ORPHA:275872
HP:0031828	Abnormal superficial reflex	54209	TREM2	OMIM:618193
HP:0031828	Abnormal superficial reflex	51218	GLRX5	ORPHA:401866
HP:0031828	Abnormal superficial reflex	51218	GLRX5	OMIM:616859
HP:0031828	Abnormal superficial reflex	51506	UFC1	OMIM:618076
HP:0031828	Abnormal superficial reflex	6311	ATXN2	OMIM:183090
HP:0031828	Abnormal superficial reflex	80055	PGAP1	OMIM:615802
HP:0031828	Abnormal superficial reflex	80055	PGAP1	ORPHA:401820
HP:0031828	Abnormal superficial reflex	23431	AP4E1	OMIM:613744
HP:0031828	Abnormal superficial reflex	23431	AP4E1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	25778	DSTYK	OMIM:270750
HP:0031828	Abnormal superficial reflex	51324	SPG21	OMIM:248900
HP:0031828	Abnormal superficial reflex	116228	COX20	OMIM:619054
HP:0031828	Abnormal superficial reflex	64207	IRF2BPL	OMIM:618088
HP:0031828	Abnormal superficial reflex	118813	ZFYVE27	OMIM:610244
HP:0031828	Abnormal superficial reflex	55157	DARS2	ORPHA:137898
HP:0031828	Abnormal superficial reflex	55157	DARS2	OMIM:611105
HP:0031828	Abnormal superficial reflex	823	CAPN1	OMIM:616907
HP:0031828	Abnormal superficial reflex	823	CAPN1	ORPHA:488594
HP:0031828	Abnormal superficial reflex	10273	STUB1	OMIM:618093
HP:0031828	Abnormal superficial reflex	10273	STUB1	OMIM:615768
HP:0031828	Abnormal superficial reflex	22	ABCB7	OMIM:301310
HP:0031828	Abnormal superficial reflex	100303755	PET117	OMIM:619063
HP:0031828	Abnormal superficial reflex	4697	NDUFA4	OMIM:619065
HP:0031828	Abnormal superficial reflex	65055	REEP1	OMIM:610250
HP:0031828	Abnormal superficial reflex	26090	ABHD12	OMIM:612674
HP:0031828	Abnormal superficial reflex	144165	PRICKLE1	OMIM:612437
HP:0031828	Abnormal superficial reflex	5376	PMP22	ORPHA:3115
HP:0031828	Abnormal superficial reflex	4359	MPZ	ORPHA:3115
HP:0031828	Abnormal superficial reflex	1267	CNP	OMIM:619071
HP:0031828	Abnormal superficial reflex	23533	PIK3R5	ORPHA:64753
HP:0031828	Abnormal superficial reflex	4744	NEFH	OMIM:616924
HP:0031828	Abnormal superficial reflex	90624	LYRM7	OMIM:615838
HP:0031828	Abnormal superficial reflex	1282	COL4A1	OMIM:175780
HP:0031828	Abnormal superficial reflex	64837	KLC2	OMIM:609541
HP:0031828	Abnormal superficial reflex	80704	SLC19A3	OMIM:607483
HP:0031828	Abnormal superficial reflex	80025	PANK2	OMIM:234200
HP:0031828	Abnormal superficial reflex	11128	POLR3A	ORPHA:447896
HP:0031828	Abnormal superficial reflex	11128	POLR3A	OMIM:607694
HP:0031828	Abnormal superficial reflex	23503	ZFYVE26	OMIM:270700
HP:0031828	Abnormal superficial reflex	23503	ZFYVE26	ORPHA:100996
HP:0031828	Abnormal superficial reflex	9409	PEX16	OMIM:614877
HP:0031828	Abnormal superficial reflex	773	CACNA1A	ORPHA:98758
HP:0031828	Abnormal superficial reflex	8242	KDM5C	OMIM:300534
HP:0031828	Abnormal superficial reflex	6390	SDHB	ORPHA:3208
HP:0031828	Abnormal superficial reflex	6392	SDHD	ORPHA:3208
HP:0031828	Abnormal superficial reflex	644096	SDHAF1	ORPHA:3208
HP:0031828	Abnormal superficial reflex	3329	HSPD1	OMIM:605280
HP:0031828	Abnormal superficial reflex	3329	HSPD1	ORPHA:100994
HP:0031828	Abnormal superficial reflex	3329	HSPD1	OMIM:612233
HP:0031828	Abnormal superficial reflex	3954	LETM1	OMIM:620089
HP:0031828	Abnormal superficial reflex	4556	MT-TE	ORPHA:2596
HP:0031828	Abnormal superficial reflex	6314	ATXN7	ORPHA:94147
HP:0031828	Abnormal superficial reflex	6314	ATXN7	OMIM:164500
HP:0031828	Abnormal superficial reflex	84188	FAR1	ORPHA:447753
HP:0031828	Abnormal superficial reflex	3798	KIF5A	ORPHA:100991
HP:0031828	Abnormal superficial reflex	3798	KIF5A	OMIM:604187
HP:0031828	Abnormal superficial reflex	6622	SNCA	ORPHA:171695
HP:0031828	Abnormal superficial reflex	80207	OPA3	OMIM:258501
HP:0031828	Abnormal superficial reflex	170302	ARX	OMIM:300419
HP:0031828	Abnormal superficial reflex	51308	REEP2	OMIM:615625
HP:0031828	Abnormal superficial reflex	1861	TOR1A	OMIM:128100
HP:0031828	Abnormal superficial reflex	4976	OPA1	OMIM:210000
HP:0031828	Abnormal superficial reflex	6310	ATXN1	OMIM:164400
HP:0031828	Abnormal superficial reflex	3736	KCNA1	OMIM:160120
HP:0031828	Abnormal superficial reflex	9420	CYP7B1	ORPHA:100986
HP:0031828	Abnormal superficial reflex	9420	CYP7B1	OMIM:270800
HP:0031828	Abnormal superficial reflex	2258	FGF13	OMIM:301058
HP:0031828	Abnormal superficial reflex	9150	CTDP1	OMIM:604168
HP:0031828	Abnormal superficial reflex	55187	VPS13D	OMIM:607317
HP:0031828	Abnormal superficial reflex	57505	AARS2	OMIM:615889
HP:0031828	Abnormal superficial reflex	1644	DDC	OMIM:608643
HP:0031828	Abnormal superficial reflex	84679	SLC9A7	OMIM:301024
HP:0031828	Abnormal superficial reflex	10342	TFG	ORPHA:431329
HP:0031828	Abnormal superficial reflex	10342	TFG	OMIM:615658
HP:0031828	Abnormal superficial reflex	4204	MECP2	OMIM:300055
HP:0031828	Abnormal superficial reflex	51741	WWOX	OMIM:614322
HP:0031828	Abnormal superficial reflex	91137	SLC25A46	OMIM:616505
HP:0031828	Abnormal superficial reflex	80746	TSEN2	OMIM:612389
HP:0031828	Abnormal superficial reflex	80746	TSEN2	ORPHA:2524
HP:0031828	Abnormal superficial reflex	1737	DLAT	ORPHA:79244
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:602099
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:604360
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:616668
HP:0031828	Abnormal superficial reflex	128989	TANGO2	ORPHA:480864
HP:0031828	Abnormal superficial reflex	128637	TBC1D20	OMIM:615663
HP:0031828	Abnormal superficial reflex	58494	JAM2	OMIM:618824
HP:0031828	Abnormal superficial reflex	22948	CCT5	ORPHA:139578
HP:0031828	Abnormal superficial reflex	22948	CCT5	OMIM:256840
HP:0031828	Abnormal superficial reflex	4929	NR4A2	ORPHA:98808
HP:0031828	Abnormal superficial reflex	3615	IMPDH2	ORPHA:98808
HP:0031828	Abnormal superficial reflex	10613	ERLIN1	OMIM:615681
HP:0031828	Abnormal superficial reflex	283989	TSEN54	ORPHA:2524
HP:0031828	Abnormal superficial reflex	79042	TSEN34	ORPHA:2524
HP:0031828	Abnormal superficial reflex	51091	SEPSECS	ORPHA:2524
HP:0031828	Abnormal superficial reflex	271	AMPD2	OMIM:615686
HP:0031828	Abnormal superficial reflex	57570	TRMT5	OMIM:616539
HP:0031828	Abnormal superficial reflex	6509	SLC1A4	OMIM:616657
HP:0031828	Abnormal superficial reflex	9215	LARGE1	OMIM:608840
HP:0031828	Abnormal superficial reflex	51	ACOX1	OMIM:264470
HP:0031828	Abnormal superficial reflex	6513	SLC2A1	OMIM:606777
HP:0031828	Abnormal superficial reflex	8913	CACNA1G	ORPHA:458803
HP:0031828	Abnormal superficial reflex	8913	CACNA1G	OMIM:616795
HP:0031828	Abnormal superficial reflex	29920	PYCR2	OMIM:616420
HP:0031828	Abnormal superficial reflex	22943	DKK1	ORPHA:268882
HP:0031828	Abnormal superficial reflex	4724	NDUFS4	OMIM:252010
HP:0031828	Abnormal superficial reflex	8086	AAAS	OMIM:231550
HP:0031828	Abnormal superficial reflex	51663	ZFR	ORPHA:401840
HP:0031828	Abnormal superficial reflex	84706	GPT2	ORPHA:477673
HP:0031828	Abnormal superficial reflex	1968	EIF2S3	OMIM:300148
HP:0031828	Abnormal superficial reflex	7305	TYROBP	OMIM:221770
HP:0031828	Abnormal superficial reflex	4747	NEFL	OMIM:617882
HP:0031828	Abnormal superficial reflex	221927	BRAT1	OMIM:614498
HP:0031828	Abnormal superficial reflex	54820	NDE1	OMIM:614019
HP:0031828	Abnormal superficial reflex	9373	PLAA	OMIM:617527
HP:0031834	Aortopulmonary collateral arteries	7528	YY1	OMIM:617557
HP:0031834	Aortopulmonary collateral arteries	168507	PKD1L1	OMIM:617205
HP:0031834	Aortopulmonary collateral arteries	8854	ALDH1A2	OMIM:620025
HP:0031834	Aortopulmonary collateral arteries	2324	FLT4	OMIM:618780
HP:0031834	Aortopulmonary collateral arteries	2657	GDF1	OMIM:208530
HP:0001231	Abnormal fingernail morphology	3981	LIG4	ORPHA:235
HP:0001231	Abnormal fingernail morphology	54888	NSUN2	ORPHA:235
HP:0001231	Abnormal fingernail morphology	6804	STX1A	ORPHA:904
HP:0001231	Abnormal fingernail morphology	7461	CLIP2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	84277	DNAJC30	ORPHA:904
HP:0001231	Abnormal fingernail morphology	8468	FKBP6	ORPHA:904
HP:0001231	Abnormal fingernail morphology	5982	RFC2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2969	GTF2I	ORPHA:904
HP:0001231	Abnormal fingernail morphology	3984	LIMK1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	9569	GTF2IRD1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	155382	VPS37D	ORPHA:904
HP:0001231	Abnormal fingernail morphology	155368	METTL27	ORPHA:904
HP:0001231	Abnormal fingernail morphology	114049	BUD23	ORPHA:904
HP:0001231	Abnormal fingernail morphology	7458	EIF4H	ORPHA:904
HP:0001231	Abnormal fingernail morphology	84163	GTF2IRD2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	9275	BCL7B	ORPHA:904
HP:0001231	Abnormal fingernail morphology	26608	TBL2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	653361	NCF1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	135886	TMEM270	ORPHA:904
HP:0001231	Abnormal fingernail morphology	51085	MLXIPL	ORPHA:904
HP:0001231	Abnormal fingernail morphology	9031	BAZ1B	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2006	ELN	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2767	GNA11	ORPHA:428
HP:0001231	Abnormal fingernail morphology	846	CASR	ORPHA:428
HP:0001231	Abnormal fingernail morphology	5189	PEX1	ORPHA:3220
HP:0001231	Abnormal fingernail morphology	5190	PEX6	ORPHA:3220
HP:0001231	Abnormal fingernail morphology	3636	INPPL1	ORPHA:3144
HP:0001231	Abnormal fingernail morphology	23169	SLC35D1	ORPHA:3144
HP:0001231	Abnormal fingernail morphology	56983	POGLUT1	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	3852	KRT5	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	23509	POFUT1	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	55851	PSENEN	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	5184	PEPD	ORPHA:742
HP:0001231	Abnormal fingernail morphology	526	ATP6V1B2	ORPHA:79500
HP:0001231	Abnormal fingernail morphology	57465	TBC1D24	ORPHA:79500
HP:0001231	Abnormal fingernail morphology	54790	TET2	ORPHA:75564
HP:0001231	Abnormal fingernail morphology	23451	SF3B1	ORPHA:75564
HP:0001231	Abnormal fingernail morphology	8517	IKBKG	ORPHA:464
HP:0001231	Abnormal fingernail morphology	27125	AFF4	ORPHA:444077
HP:0001231	Abnormal fingernail morphology	9555	MACROH2A1	ORPHA:1275
HP:0001231	Abnormal fingernail morphology	5307	PITX1	ORPHA:1275
HP:0001231	Abnormal fingernail morphology	51360	MBTPS2	ORPHA:659
HP:0001231	Abnormal fingernail morphology	162514	TRPV3	ORPHA:659
HP:0001231	Abnormal fingernail morphology	64065	PERP	ORPHA:659
HP:0001231	Abnormal fingernail morphology	8200	GDF5	ORPHA:93384
HP:0001231	Abnormal fingernail morphology	658	BMPR1B	ORPHA:93384
HP:0001231	Abnormal fingernail morphology	326	AIRE	ORPHA:3453
HP:0001231	Abnormal fingernail morphology	1294	COL7A1	ORPHA:79410
HP:0001231	Abnormal fingernail morphology	57539	WDR35	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	112752	IFT43	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	51098	IFT52	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	55764	IFT122	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	57728	WDR19	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	6926	TBX3	ORPHA:3138
HP:0001231	Abnormal fingernail morphology	3861	KRT14	ORPHA:89838
HP:0001231	Abnormal fingernail morphology	284252	KCTD1	ORPHA:2036
HP:0001231	Abnormal fingernail morphology	3857	KRT9	ORPHA:2199
HP:0001231	Abnormal fingernail morphology	3848	KRT1	ORPHA:2199
HP:0001231	Abnormal fingernail morphology	128178	EDARADD	ORPHA:248
HP:0001231	Abnormal fingernail morphology	128178	EDARADD	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	80326	WNT10A	ORPHA:248
HP:0001231	Abnormal fingernail morphology	10913	EDAR	ORPHA:248
HP:0001231	Abnormal fingernail morphology	10913	EDAR	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	1476	CSTB	ORPHA:248
HP:0001231	Abnormal fingernail morphology	83550	GPR101	ORPHA:963
HP:0001231	Abnormal fingernail morphology	9049	AIP	ORPHA:963
HP:0001231	Abnormal fingernail morphology	3248	HPGD	ORPHA:2796
HP:0001231	Abnormal fingernail morphology	6578	SLCO2A1	ORPHA:2796
HP:0001231	Abnormal fingernail morphology	2697	GJA1	ORPHA:2710
HP:0001231	Abnormal fingernail morphology	64324	NSD1	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	8726	EED	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	23512	SUZ12	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	2146	EZH2	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	1001	CDH3	OMIM:601553
HP:0001231	Abnormal fingernail morphology	5083	PAX9	OMIM:604625
HP:0001231	Abnormal fingernail morphology	3265	HRAS	ORPHA:3071
HP:0001231	Abnormal fingernail morphology	5566	PRKACA	ORPHA:289
HP:0001231	Abnormal fingernail morphology	5567	PRKACB	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2735	GLI1	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2121	EVC	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2121	EVC	ORPHA:952
HP:0001231	Abnormal fingernail morphology	51626	DYNC2LI1	ORPHA:289
HP:0001231	Abnormal fingernail morphology	132884	EVC2	ORPHA:289
HP:0001231	Abnormal fingernail morphology	132884	EVC2	ORPHA:952
HP:0001231	Abnormal fingernail morphology	80169	CTC1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	26277	TINF2	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55651	NHP2	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	79650	USB1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55135	WRAP53	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	51750	RTEL1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	4869	NPM1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7012	TERC	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55505	NOP10	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	5073	PARN	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7015	TERT	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	1736	DKC1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7298	TYMS	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	8036	SHOC2	ORPHA:2701
HP:0001231	Abnormal fingernail morphology	5500	PPP1CB	ORPHA:2701
HP:0001231	Abnormal fingernail morphology	84818	IL17RC	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	64581	CLEC7A	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	23765	IL17RA	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	10758	TRAF3IP2	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	112744	IL17F	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	5333	PLCD1	ORPHA:2387
HP:0001231	Abnormal fingernail morphology	4853	NOTCH2	ORPHA:955
HP:0001231	Abnormal fingernail morphology	7189	TRAF6	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	126695	KDF1	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	4487	MSX1	ORPHA:2228
HP:0001231	Abnormal fingernail morphology	1075	CTSC	ORPHA:678
HP:0001231	Abnormal fingernail morphology	5339	PLEC	ORPHA:257
HP:0001231	Abnormal fingernail morphology	6197	RPS6KA3	ORPHA:192
HP:0001231	Abnormal fingernail morphology	57061	HYMAI	ORPHA:96191
HP:0001231	Abnormal fingernail morphology	5325	PLAGL1	ORPHA:96191
HP:0001231	Abnormal fingernail morphology	9791	PTDSS1	ORPHA:2658
HP:0001231	Abnormal fingernail morphology	23556	PIGN	ORPHA:2059
HP:0001231	Abnormal fingernail morphology	23556	PIGN	ORPHA:280633
HP:0001231	Abnormal fingernail morphology	23219	FBXO28	OMIM:619777
HP:0001231	Abnormal fingernail morphology	80152	CENPT	OMIM:618702
HP:0001231	Abnormal fingernail morphology	84720	PIGO	OMIM:614749
HP:0001231	Abnormal fingernail morphology	9897	WASHC5	ORPHA:7
HP:0001231	Abnormal fingernail morphology	28952	CCDC22	ORPHA:7
HP:0001231	Abnormal fingernail morphology	6473	SHOX	ORPHA:240
HP:0001231	Abnormal fingernail morphology	117581	TWIST2	OMIM:200110
HP:0001231	Abnormal fingernail morphology	1301	COL11A1	OMIM:228520
HP:0001231	Abnormal fingernail morphology	1301	COL11A1	ORPHA:2021
HP:0001231	Abnormal fingernail morphology	3481	IGF2	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	1028	CDKN1C	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	5324	PLAG1	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	8091	HMGA2	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	2263	FGFR2	OMIM:123790
HP:0001231	Abnormal fingernail morphology	1302	COL11A2	ORPHA:2021
HP:0001231	Abnormal fingernail morphology	3782	KCNN3	ORPHA:3473
HP:0001231	Abnormal fingernail morphology	3516	RBPJ	ORPHA:974
HP:0001231	Abnormal fingernail morphology	4851	NOTCH1	ORPHA:974
HP:0001231	Abnormal fingernail morphology	57514	ARHGAP31	ORPHA:974
HP:0001231	Abnormal fingernail morphology	57572	DOCK6	ORPHA:974
HP:0001231	Abnormal fingernail morphology	285203	EOGT	ORPHA:974
HP:0001231	Abnormal fingernail morphology	54567	DLL4	ORPHA:974
HP:0001231	Abnormal fingernail morphology	58499	ZNF462	OMIM:618619
HP:0001231	Abnormal fingernail morphology	168667	BMPER	OMIM:608022
HP:0001231	Abnormal fingernail morphology	6335	SCN9A	ORPHA:970
HP:0001231	Abnormal fingernail morphology	65125	WNK1	ORPHA:970
HP:0001231	Abnormal fingernail morphology	54463	RETREG1	ORPHA:970
HP:0001231	Abnormal fingernail morphology	547	KIF1A	ORPHA:970
HP:0001231	Abnormal fingernail morphology	5317	PKP1	OMIM:604536
HP:0001231	Abnormal fingernail morphology	6774	STAT3	ORPHA:2314
HP:0001231	Abnormal fingernail morphology	5604	MAP2K1	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	5605	MAP2K2	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	3845	KRAS	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	673	BRAF	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	404672	GTF2H5	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	833	CARS1	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2068	ERCC2	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	7737	RNF113A	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	136647	MPLKIP	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	6897	TARS1	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2071	ERCC3	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2961	GTF2E2	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	121391	KRT74	OMIM:614929
HP:0001231	Abnormal fingernail morphology	4000	LMNA	ORPHA:740
HP:0001231	Abnormal fingernail morphology	10269	ZMPSTE24	ORPHA:740
HP:0001231	Abnormal fingernail morphology	26137	ZBTB20	OMIM:259050
HP:0001231	Abnormal fingernail morphology	3106	HLA-B	ORPHA:29207
HP:0001231	Abnormal fingernail morphology	1308	COL17A1	OMIM:619787
HP:0001231	Abnormal fingernail morphology	1308	COL17A1	ORPHA:251393
HP:0001231	Abnormal fingernail morphology	860	RUNX2	ORPHA:1452
HP:0001231	Abnormal fingernail morphology	5818	NECTIN1	ORPHA:3253
HP:0001231	Abnormal fingernail morphology	3691	ITGB4	ORPHA:251393
HP:0001231	Abnormal fingernail morphology	6597	SMARCA4	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6598	SMARCB1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6659	SOX4	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	8289	ARID1A	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	5977	DPF2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6601	SMARCC2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6602	SMARCD1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	57492	ARID1B	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	57492	ARID1B	OMIM:135900
HP:0001231	Abnormal fingernail morphology	196528	ARID2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6605	SMARCE1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6664	SOX11	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6664	SOX11	OMIM:615866
HP:0001231	Abnormal fingernail morphology	27315	PGAP2	OMIM:614207
HP:0001231	Abnormal fingernail morphology	1947	EFNB1	ORPHA:1520
HP:0001231	Abnormal fingernail morphology	55630	SLC39A4	ORPHA:37
HP:0001231	Abnormal fingernail morphology	5281	PIGF	OMIM:619356
HP:0001231	Abnormal fingernail morphology	3756	KCNH1	ORPHA:420561
HP:0001231	Abnormal fingernail morphology	3756	KCNH1	OMIM:611816
HP:0001231	Abnormal fingernail morphology	4038	LRP4	ORPHA:3152
HP:0001231	Abnormal fingernail morphology	50964	SOST	ORPHA:3152
HP:0001231	Abnormal fingernail morphology	3590	IL11RA	OMIM:614188
HP:0001231	Abnormal fingernail morphology	1857	DVL3	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	7474	WNT5A	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	1855	DVL1	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	2535	FZD2	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	4010	LMX1B	ORPHA:2614
HP:0001231	Abnormal fingernail morphology	7020	TFAP2A	ORPHA:1297
HP:0001231	Abnormal fingernail morphology	8626	TP63	ORPHA:978
HP:0001231	Abnormal fingernail morphology	64359	NXN	ORPHA:1507
HP:0001231	Abnormal fingernail morphology	4920	ROR2	ORPHA:1507
HP:0001231	Abnormal fingernail morphology	3868	KRT16	ORPHA:2309
HP:0001231	Abnormal fingernail morphology	3872	KRT17	ORPHA:2309
HP:0001231	Abnormal fingernail morphology	3853	KRT6A	ORPHA:2309
HP:0001231	Abnormal fingernail morphology	3854	KRT6B	ORPHA:2309
HP:0001232	Nail bed telangiectasia	94	ACVRL1	OMIM:600376
HP:0001232	Nail bed telangiectasia	2022	ENG	OMIM:187300
HP:0001234	Hitchhiker thumb	1836	SLC26A2	ORPHA:56304
HP:0001234	Hitchhiker thumb	1836	SLC26A2	OMIM:256050
HP:0001234	Hitchhiker thumb	1836	SLC26A2	OMIM:222600
HP:0001234	Hitchhiker thumb	79796	ALG9	ORPHA:79328
HP:0001234	Hitchhiker thumb	22858	CILK1	OMIM:612651
HP:0001234	Hitchhiker thumb	1954	MEGF8	OMIM:614976
HP:0001234	Hitchhiker thumb	2317	FLNB	OMIM:108721
HP:0001234	Hitchhiker thumb	23019	CNOT1	OMIM:618500
HP:0001234	Hitchhiker thumb	22856	CHSY1	OMIM:605282
HP:0001234	Hitchhiker thumb	54928	BPNT2	OMIM:614078
HP:0001238	Slender finger	64132	XYLT2	OMIM:605822
HP:0001238	Slender finger	4088	SMAD3	ORPHA:284984
HP:0001238	Slender finger	4088	SMAD3	OMIM:613795
HP:0001238	Slender finger	4088	SMAD3	ORPHA:91387
HP:0001238	Slender finger	875	CBS	ORPHA:394
HP:0001238	Slender finger	875	CBS	OMIM:236200
HP:0001238	Slender finger	25970	SH2B1	ORPHA:261222
HP:0001238	Slender finger	199857	ALG14	OMIM:619036
HP:0001238	Slender finger	8925	HERC1	OMIM:617011
HP:0001238	Slender finger	8925	HERC1	ORPHA:457359
HP:0001238	Slender finger	1075	CTSC	OMIM:245010
HP:0001238	Slender finger	1075	CTSC	ORPHA:678
HP:0001238	Slender finger	5351	PLOD1	OMIM:225400
HP:0001238	Slender finger	8076	MFAP5	OMIM:616166
HP:0001238	Slender finger	8076	MFAP5	ORPHA:91387
HP:0001238	Slender finger	57122	NUP107	OMIM:618348
HP:0001238	Slender finger	57122	NUP107	OMIM:616730
HP:0001238	Slender finger	57122	NUP107	ORPHA:243
HP:0001238	Slender finger	2200	FBN1	ORPHA:284979
HP:0001238	Slender finger	2200	FBN1	OMIM:154700
HP:0001238	Slender finger	2200	FBN1	OMIM:604308
HP:0001238	Slender finger	2200	FBN1	OMIM:616914
HP:0001238	Slender finger	2200	FBN1	ORPHA:2462
HP:0001238	Slender finger	2200	FBN1	ORPHA:91387
HP:0001238	Slender finger	5447	POR	ORPHA:95699
HP:0001238	Slender finger	5447	POR	OMIM:207410
HP:0001238	Slender finger	5447	POR	OMIM:201750
HP:0001238	Slender finger	1301	COL11A1	OMIM:604841
HP:0001238	Slender finger	91179	SCARF2	OMIM:600920
HP:0001238	Slender finger	613	BCR	ORPHA:261330
HP:0001238	Slender finger	1399	CRKL	ORPHA:261330
HP:0001238	Slender finger	5594	MAPK1	ORPHA:261330
HP:0001238	Slender finger	3021	H3-3B	OMIM:619721
HP:0001238	Slender finger	80816	ASXL3	OMIM:615485
HP:0001238	Slender finger	80816	ASXL3	ORPHA:352577
HP:0001238	Slender finger	63895	PIEZO2	OMIM:617146
HP:0001238	Slender finger	63895	PIEZO2	OMIM:108145
HP:0001238	Slender finger	63895	PIEZO2	ORPHA:1154
HP:0001238	Slender finger	63895	PIEZO2	OMIM:248700
HP:0001238	Slender finger	63895	PIEZO2	ORPHA:2461
HP:0001238	Slender finger	23314	SATB2	ORPHA:251019
HP:0001238	Slender finger	23314	SATB2	OMIM:612313
HP:0001238	Slender finger	2263	FGFR2	OMIM:207410
HP:0001238	Slender finger	126792	B3GALT6	ORPHA:2725
HP:0001238	Slender finger	126792	B3GALT6	ORPHA:536467
HP:0001238	Slender finger	72	ACTG2	ORPHA:2604
HP:0001238	Slender finger	2261	FGFR3	OMIM:610474
HP:0001238	Slender finger	2201	FBN2	OMIM:121050
HP:0001238	Slender finger	2201	FBN2	ORPHA:115
HP:0001238	Slender finger	30008	EFEMP2	OMIM:614437
HP:0001238	Slender finger	4882	NPR2	OMIM:615923
HP:0001238	Slender finger	10084	PQBP1	ORPHA:93946
HP:0001238	Slender finger	51114	ZDHHC9	ORPHA:776
HP:0001238	Slender finger	51114	ZDHHC9	OMIM:300799
HP:0001238	Slender finger	65109	UPF3B	ORPHA:776
HP:0001238	Slender finger	9968	MED12	ORPHA:776
HP:0001238	Slender finger	9968	MED12	OMIM:309520
HP:0001238	Slender finger	79693	YRDC	OMIM:619609
HP:0001238	Slender finger	1146	CHRNG	OMIM:265000
HP:0001238	Slender finger	2316	FLNA	OMIM:305620
HP:0001238	Slender finger	284058	KANSL1	ORPHA:363958
HP:0001238	Slender finger	284058	KANSL1	ORPHA:363965
HP:0001238	Slender finger	1272	CNTN1	OMIM:612540
HP:0001238	Slender finger	29920	PYCR2	ORPHA:481152
HP:0001238	Slender finger	29920	PYCR2	OMIM:616420
HP:0001238	Slender finger	29940	DSE	OMIM:615539
HP:0001238	Slender finger	1312	COMT	ORPHA:567
HP:0001238	Slender finger	221037	JMJD1C	ORPHA:567
HP:0001238	Slender finger	2812	GP1BB	ORPHA:567
HP:0001238	Slender finger	6239	RREB1	ORPHA:567
HP:0001238	Slender finger	6899	TBX1	ORPHA:567
HP:0001238	Slender finger	7290	HIRA	ORPHA:567
HP:0001238	Slender finger	9632	SEC24C	ORPHA:567
HP:0001238	Slender finger	7353	UFD1	ORPHA:567
HP:0001238	Slender finger	421	ARVCF	ORPHA:567
HP:0001238	Slender finger	444	ASPH	OMIM:601552
HP:0001238	Slender finger	9839	ZEB2	ORPHA:261552
HP:0001238	Slender finger	9839	ZEB2	ORPHA:261537
HP:0001238	Slender finger	10815	CPLX1	ORPHA:280
HP:0001238	Slender finger	54872	PIGG	ORPHA:280
HP:0001238	Slender finger	7469	NELFA	ORPHA:280
HP:0001238	Slender finger	1487	CTBP1	ORPHA:280
HP:0001238	Slender finger	3954	LETM1	ORPHA:280
HP:0001238	Slender finger	7468	NSD2	ORPHA:280
HP:0001238	Slender finger	633	BGN	OMIM:300989
HP:0001238	Slender finger	79576	NKAP	OMIM:301039
HP:0001238	Slender finger	3188	HNRNPH2	OMIM:300986
HP:0001238	Slender finger	25	ABL1	OMIM:617602
HP:0001238	Slender finger	23152	CIC	OMIM:617600
HP:0001238	Slender finger	649	BMP1	OMIM:614856
HP:0001238	Slender finger	89910	UBE3B	ORPHA:2707
HP:0001238	Slender finger	25942	SIN3A	OMIM:613406
HP:0001238	Slender finger	55644	OSGEP	OMIM:617729
HP:0001238	Slender finger	165	AEBP1	ORPHA:536532
HP:0001238	Slender finger	11285	B4GALT7	ORPHA:75496
HP:0001238	Slender finger	11285	B4GALT7	OMIM:130070
HP:0001238	Slender finger	1798	DPAGT1	ORPHA:86309
HP:0001238	Slender finger	6611	SMS	ORPHA:3063
HP:0001238	Slender finger	157680	VPS13B	ORPHA:193
HP:0001238	Slender finger	10526	IPO8	OMIM:619472
HP:0001238	Slender finger	10526	IPO8	ORPHA:60030
HP:0001238	Slender finger	8270	LAGE3	OMIM:301006
HP:0001238	Slender finger	490	ATP2B1	OMIM:619910
HP:0001238	Slender finger	259232	NALCN	ORPHA:371364
HP:0001238	Slender finger	285175	UNC80	ORPHA:371364
HP:0001238	Slender finger	81031	SLC2A10	ORPHA:3342
HP:0001238	Slender finger	81031	SLC2A10	OMIM:208050
HP:0001238	Slender finger	4534	MTM1	OMIM:310400
HP:0001238	Slender finger	1280	COL2A1	OMIM:108300
HP:0001238	Slender finger	5184	PEPD	ORPHA:742
HP:0001238	Slender finger	113189	CHST14	OMIM:601776
HP:0001238	Slender finger	715	C1R	OMIM:130080
HP:0001238	Slender finger	51633	OTUD6B	ORPHA:505237
HP:0001238	Slender finger	60676	PAPPA2	OMIM:619489
HP:0001238	Slender finger	1742	DLG4	OMIM:618793
HP:0001238	Slender finger	6605	SMARCE1	OMIM:616938
HP:0001238	Slender finger	11107	PRDM5	ORPHA:90354
HP:0001238	Slender finger	84627	ZNF469	ORPHA:90354
HP:0001238	Slender finger	139285	AMER1	OMIM:300373
HP:0001238	Slender finger	3187	HNRNPH1	OMIM:620083
HP:0001238	Slender finger	5727	PTCH1	ORPHA:377
HP:0001238	Slender finger	8643	PTCH2	ORPHA:377
HP:0001238	Slender finger	51684	SUFU	ORPHA:377
HP:0001238	Slender finger	6497	SKI	OMIM:182212
HP:0001238	Slender finger	6497	SKI	ORPHA:2462
HP:0001238	Slender finger	4677	NARS1	OMIM:619092
HP:0001238	Slender finger	6651	SON	ORPHA:500150
HP:0001238	Slender finger	2193	FARSA	OMIM:619013
HP:0001238	Slender finger	10273	STUB1	ORPHA:412057
HP:0001238	Slender finger	4087	SMAD2	OMIM:619656
HP:0001238	Slender finger	4087	SMAD2	ORPHA:91387
HP:0001238	Slender finger	7048	TGFBR2	OMIM:610168
HP:0001238	Slender finger	7048	TGFBR2	ORPHA:60030
HP:0001238	Slender finger	7048	TGFBR2	ORPHA:91387
HP:0001238	Slender finger	10516	FBLN5	OMIM:219100
HP:0001238	Slender finger	23133	PHF8	OMIM:300263
HP:0001238	Slender finger	29893	PSMC3IP	ORPHA:243
HP:0001238	Slender finger	171568	POLR3H	ORPHA:243
HP:0001238	Slender finger	2516	NR5A1	ORPHA:243
HP:0001238	Slender finger	125150	ZSWIM7	ORPHA:243
HP:0001238	Slender finger	9210	BMP15	ORPHA:243
HP:0001238	Slender finger	23514	SPIDR	ORPHA:243
HP:0001238	Slender finger	2492	FSHR	ORPHA:243
HP:0001238	Slender finger	56945	MRPS22	ORPHA:243
HP:0001238	Slender finger	646	BNC1	ORPHA:243
HP:0001238	Slender finger	55553	SOX6	OMIM:618971
HP:0001238	Slender finger	4883	NPR3	OMIM:619543
HP:0001238	Slender finger	7043	TGFB3	OMIM:615582
HP:0001238	Slender finger	7043	TGFB3	ORPHA:91387
HP:0001238	Slender finger	7046	TGFBR1	ORPHA:60030
HP:0001238	Slender finger	7046	TGFBR1	OMIM:609192
HP:0001238	Slender finger	7046	TGFBR1	ORPHA:91387
HP:0001238	Slender finger	56603	CYP26B1	OMIM:614416
HP:0001238	Slender finger	7042	TGFB2	OMIM:614816
HP:0001238	Slender finger	7042	TGFB2	ORPHA:91387
HP:0001238	Slender finger	4629	MYH11	ORPHA:91387
HP:0001238	Slender finger	4015	LOX	ORPHA:91387
HP:0001238	Slender finger	4089	SMAD4	ORPHA:91387
HP:0001238	Slender finger	59	ACTA2	ORPHA:91387
HP:0001238	Slender finger	5592	PRKG1	ORPHA:91387
HP:0001238	Slender finger	2301	FOXE3	ORPHA:91387
HP:0001238	Slender finger	4144	MAT2A	ORPHA:91387
HP:0001238	Slender finger	23493	HEY2	ORPHA:91387
HP:0001238	Slender finger	4638	MYLK	ORPHA:91387
HP:0001238	Slender finger	2006	ELN	ORPHA:91387
HP:0001238	Slender finger	3835	KIF22	ORPHA:93360
HP:0001238	Slender finger	4784	NFIX	OMIM:602535
HP:0001238	Slender finger	83696	TRAPPC9	OMIM:613192
HP:0001238	Slender finger	1281	COL3A1	OMIM:618343
HP:0001238	Slender finger	23162	MAPK8IP3	OMIM:618443
HP:0001238	Slender finger	546	ATRX	OMIM:309580
HP:0001238	Slender finger	2186	BPTF	OMIM:617755
HP:0001238	Slender finger	8239	USP9X	ORPHA:480880
HP:0001238	Slender finger	84942	WDR73	OMIM:251300
HP:0001238	Slender finger	1303	COL12A1	ORPHA:75840
HP:0001238	Slender finger	1291	COL6A1	ORPHA:75840
HP:0001238	Slender finger	1292	COL6A2	ORPHA:75840
HP:0001238	Slender finger	1293	COL6A3	ORPHA:75840
HP:0001238	Slender finger	3955	LFNG	OMIM:609813
HP:0001238	Slender finger	10479	SLC9A6	OMIM:300243
HP:0001238	Slender finger	9578	CDC42BPB	OMIM:619841
HP:0001238	Slender finger	29998	BICRA	OMIM:619325
HP:0001238	Slender finger	10525	HYOU1	OMIM:233600
HP:0001238	Slender finger	55690	PACS1	ORPHA:329224
HP:0001238	Slender finger	2783	GNB2	OMIM:619503
HP:0001238	Slender finger	93587	TRMT10A	ORPHA:391408
HP:0001238	Slender finger	84919	PPP1R15B	ORPHA:391408
HP:0001238	Slender finger	9343	EFTUD2	OMIM:610536
HP:0011451	Primary microcephaly	699	BUB1	OMIM:620183
HP:0011451	Primary microcephaly	11113	CIT	OMIM:617090
HP:0011451	Primary microcephaly	27183	VPS4A	OMIM:619273
HP:0011451	Primary microcephaly	91949	COG7	OMIM:608779
HP:0011451	Primary microcephaly	91949	COG7	ORPHA:79333
HP:0011451	Primary microcephaly	3376	IARS1	OMIM:617093
HP:0011451	Primary microcephaly	1021	CDK6	OMIM:616080
HP:0011451	Primary microcephaly	23141	ANKLE2	OMIM:616681
HP:0011451	Primary microcephaly	80347	COASY	OMIM:618266
HP:0011451	Primary microcephaly	1499	CTNNB1	OMIM:615075
HP:0011451	Primary microcephaly	1499	CTNNB1	ORPHA:404473
HP:0011451	Primary microcephaly	2903	GRIN2A	OMIM:245570
HP:0011451	Primary microcephaly	2903	GRIN2A	ORPHA:289266
HP:0011451	Primary microcephaly	112858	TP53RK	OMIM:617730
HP:0011451	Primary microcephaly	8270	LAGE3	OMIM:301006
HP:0011451	Primary microcephaly	163786	SASS6	OMIM:616402
HP:0011451	Primary microcephaly	51002	TPRKB	OMIM:617731
HP:0011451	Primary microcephaly	9894	TELO2	ORPHA:488642
HP:0011451	Primary microcephaly	54820	NDE1	ORPHA:2177
HP:0011451	Primary microcephaly	54820	NDE1	ORPHA:89844
HP:0011451	Primary microcephaly	54820	NDE1	OMIM:614019
HP:0011451	Primary microcephaly	51343	FZR1	OMIM:620145
HP:0011451	Primary microcephaly	8496	PPFIBP1	OMIM:620024
HP:0011451	Primary microcephaly	8405	SPOP	OMIM:618828
HP:0011451	Primary microcephaly	81570	CLPB	ORPHA:445038
HP:0011451	Primary microcephaly	9839	ZEB2	ORPHA:261537
HP:0011451	Primary microcephaly	9839	ZEB2	ORPHA:261552
HP:0011451	Primary microcephaly	51112	TRAPPC12	ORPHA:500144
HP:0011451	Primary microcephaly	1062	CENPE	OMIM:616051
HP:0011451	Primary microcephaly	51124	IER3IP1	OMIM:614231
HP:0011451	Primary microcephaly	9918	NCAPD2	OMIM:617983
HP:0011451	Primary microcephaly	5649	RELN	ORPHA:89844
HP:0011451	Primary microcephaly	10300	KATNB1	ORPHA:89844
HP:0011451	Primary microcephaly	55755	CDK5RAP2	OMIM:604804
HP:0011451	Primary microcephaly	25828	TXN2	ORPHA:478029
HP:0011451	Primary microcephaly	7204	TRIO	ORPHA:476126
HP:0011451	Primary microcephaly	55262	TRAPPC14	OMIM:618351
HP:0011451	Primary microcephaly	26227	PHGDH	OMIM:601815
HP:0011451	Primary microcephaly	26227	PHGDH	ORPHA:79351
HP:0011451	Primary microcephaly	26227	PHGDH	OMIM:256520
HP:0011451	Primary microcephaly	1841	DTYMK	OMIM:619847
HP:0011451	Primary microcephaly	9662	CEP135	OMIM:614673
HP:0011451	Primary microcephaly	27185	DISC1	ORPHA:171703
HP:0011451	Primary microcephaly	8320	EOMES	ORPHA:171703
HP:0011451	Primary microcephaly	64135	IFIH1	OMIM:615846
HP:0011451	Primary microcephaly	93587	TRMT10A	ORPHA:391408
HP:0011451	Primary microcephaly	93587	TRMT10A	OMIM:616033
HP:0011451	Primary microcephaly	84919	PPP1R15B	ORPHA:391408
HP:0011451	Primary microcephaly	57082	KNL1	OMIM:604321
HP:0011451	Primary microcephaly	79693	YRDC	OMIM:619609
HP:0011451	Primary microcephaly	60386	SLC25A19	OMIM:607196
HP:0011451	Primary microcephaly	9126	SMC3	OMIM:610759
HP:0011451	Primary microcephaly	4204	MECP2	ORPHA:778
HP:0011451	Primary microcephaly	5932	RBBP8	OMIM:251255
HP:0011451	Primary microcephaly	55691	FRMD4A	OMIM:616819
HP:0011451	Primary microcephaly	55691	FRMD4A	ORPHA:466688
HP:0011451	Primary microcephaly	6904	TBCD	ORPHA:496641
HP:0011451	Primary microcephaly	63925	ZNF335	OMIM:615095
HP:0011451	Primary microcephaly	203068	TUBB	OMIM:615771
HP:0011451	Primary microcephaly	3899	AFF3	OMIM:619297
HP:0011451	Primary microcephaly	1984	EIF5A	OMIM:619376
HP:0011451	Primary microcephaly	23511	NUP188	OMIM:618804
HP:0011451	Primary microcephaly	10381	TUBB3	ORPHA:300570
HP:0011451	Primary microcephaly	7994	KAT6A	OMIM:616268
HP:0011451	Primary microcephaly	51294	PCDH12	OMIM:251280
HP:0011451	Primary microcephaly	10015	PDCD6IP	OMIM:620047
HP:0011451	Primary microcephaly	80254	CEP63	OMIM:614728
HP:0011451	Primary microcephaly	6491	STIL	OMIM:612703
HP:0011451	Primary microcephaly	6509	SLC1A4	ORPHA:447997
HP:0011451	Primary microcephaly	79648	MCPH1	OMIM:251200
HP:0011451	Primary microcephaly	8604	SLC25A12	OMIM:612949
HP:0011451	Primary microcephaly	6567	SLC16A2	ORPHA:59
HP:0011451	Primary microcephaly	6045	RNF2	OMIM:619460
HP:0011451	Primary microcephaly	283989	TSEN54	ORPHA:166063
HP:0011451	Primary microcephaly	29968	PSAT1	ORPHA:284417
HP:0011451	Primary microcephaly	84823	LMNB2	OMIM:619180
HP:0011451	Primary microcephaly	9896	FIG4	ORPHA:3472
HP:0011451	Primary microcephaly	55697	VAC14	ORPHA:3472
HP:0011451	Primary microcephaly	79023	NUP37	OMIM:618179
HP:0011451	Primary microcephaly	4905	NSF	OMIM:619340
HP:0011451	Primary microcephaly	5283	PIGH	OMIM:618010
HP:0011451	Primary microcephaly	9181	ARHGEF2	OMIM:617523
HP:0011451	Primary microcephaly	79718	TBL1XR1	ORPHA:487825
HP:0011452	Functional abnormality of the middle ear	26191	PTPN22	ORPHA:397
HP:0011452	Functional abnormality of the middle ear	3106	HLA-B	ORPHA:397
HP:0011452	Functional abnormality of the middle ear	3123	HLA-DRB1	ORPHA:397
HP:0011452	Functional abnormality of the middle ear	8974	P4HA2	ORPHA:397
HP:0011452	Functional abnormality of the middle ear	85016	CFAP300	OMIM:618063
HP:0011452	Functional abnormality of the middle ear	85016	CFAP300	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	10194	TSHZ1	OMIM:607842
HP:0011452	Functional abnormality of the middle ear	341640	FREM2	ORPHA:2052
HP:0011452	Functional abnormality of the middle ear	80144	FRAS1	ORPHA:2052
HP:0011452	Functional abnormality of the middle ear	80144	FRAS1	OMIM:219000
HP:0011452	Functional abnormality of the middle ear	23426	GRIP1	ORPHA:2052
HP:0011452	Functional abnormality of the middle ear	10262	SF3B4	OMIM:154400
HP:0011452	Functional abnormality of the middle ear	23019	CNOT1	OMIM:618500
HP:0011452	Functional abnormality of the middle ear	2138	EYA1	OMIM:113650
HP:0011452	Functional abnormality of the middle ear	2138	EYA1	ORPHA:52429
HP:0011452	Functional abnormality of the middle ear	2138	EYA1	ORPHA:2792
HP:0011452	Functional abnormality of the middle ear	2138	EYA1	OMIM:166780
HP:0011452	Functional abnormality of the middle ear	6495	SIX1	OMIM:113650
HP:0011452	Functional abnormality of the middle ear	6495	SIX1	OMIM:605192
HP:0011452	Functional abnormality of the middle ear	6495	SIX1	ORPHA:52429
HP:0011452	Functional abnormality of the middle ear	2697	GJA1	ORPHA:1522
HP:0011452	Functional abnormality of the middle ear	2697	GJA1	ORPHA:2710
HP:0011452	Functional abnormality of the middle ear	2697	GJA1	OMIM:164200
HP:0011452	Functional abnormality of the middle ear	56172	ANKH	ORPHA:1522
HP:0011452	Functional abnormality of the middle ear	1161	ERCC8	ORPHA:90324
HP:0011452	Functional abnormality of the middle ear	2074	ERCC6	ORPHA:90324
HP:0011452	Functional abnormality of the middle ear	6228	RPS23	OMIM:617412
HP:0011452	Functional abnormality of the middle ear	5238	PGM3	ORPHA:443811
HP:0011452	Functional abnormality of the middle ear	5238	PGM3	OMIM:615816
HP:0011452	Functional abnormality of the middle ear	145173	B3GLCT	ORPHA:709
HP:0011452	Functional abnormality of the middle ear	10992	SF3B2	OMIM:164210
HP:0011452	Functional abnormality of the middle ear	91147	TMEM67	OMIM:602152
HP:0011452	Functional abnormality of the middle ear	64324	NSD1	ORPHA:821
HP:0011452	Functional abnormality of the middle ear	64324	NSD1	OMIM:117550
HP:0011452	Functional abnormality of the middle ear	29072	SETD2	ORPHA:821
HP:0011452	Functional abnormality of the middle ear	29072	SETD2	OMIM:620155
HP:0011452	Functional abnormality of the middle ear	10297	APC2	ORPHA:821
HP:0011452	Functional abnormality of the middle ear	5447	POR	ORPHA:95699
HP:0011452	Functional abnormality of the middle ear	5447	POR	OMIM:201750
HP:0011452	Functional abnormality of the middle ear	4487	MSX1	ORPHA:199302
HP:0011452	Functional abnormality of the middle ear	4487	MSX1	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	5818	NECTIN1	ORPHA:199302
HP:0011452	Functional abnormality of the middle ear	5818	NECTIN1	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	8626	TP63	ORPHA:199302
HP:0011452	Functional abnormality of the middle ear	8626	TP63	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	8626	TP63	OMIM:106260
HP:0011452	Functional abnormality of the middle ear	3664	IRF6	ORPHA:199302
HP:0011452	Functional abnormality of the middle ear	3664	IRF6	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	3190	HNRNPK	ORPHA:453504
HP:0011452	Functional abnormality of the middle ear	3190	HNRNPK	ORPHA:352665
HP:0011452	Functional abnormality of the middle ear	1739	DLG1	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	652	BMP4	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	999	CDH1	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	999	CDH1	ORPHA:1997
HP:0011452	Functional abnormality of the middle ear	5156	PDGFRA	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	9411	ARHGAP29	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	1748	DLX4	ORPHA:199306
HP:0011452	Functional abnormality of the middle ear	8792	TNFRSF11A	OMIM:174810
HP:0011452	Functional abnormality of the middle ear	1855	DVL1	OMIM:616331
HP:0011452	Functional abnormality of the middle ear	1723	DHODH	OMIM:263750
HP:0011452	Functional abnormality of the middle ear	1723	DHODH	ORPHA:246
HP:0011452	Functional abnormality of the middle ear	63916	ELMO2	ORPHA:3019
HP:0011452	Functional abnormality of the middle ear	2314	FLII	ORPHA:819
HP:0011452	Functional abnormality of the middle ear	23096	IQSEC2	ORPHA:819
HP:0011452	Functional abnormality of the middle ear	10743	RAI1	ORPHA:819
HP:0011452	Functional abnormality of the middle ear	10522	DEAF1	ORPHA:819
HP:0011452	Functional abnormality of the middle ear	10847	SRCAP	ORPHA:2044
HP:0011452	Functional abnormality of the middle ear	10847	SRCAP	OMIM:136140
HP:0011452	Functional abnormality of the middle ear	6662	SOX9	OMIM:114290
HP:0011452	Functional abnormality of the middle ear	9382	COG1	OMIM:611209
HP:0011452	Functional abnormality of the middle ear	50964	SOST	ORPHA:1513
HP:0011452	Functional abnormality of the middle ear	1500	CTNND1	ORPHA:1997
HP:0011452	Functional abnormality of the middle ear	2188	FANCF	OMIM:603467
HP:0011452	Functional abnormality of the middle ear	1146	CHRNG	OMIM:265000
HP:0011452	Functional abnormality of the middle ear	1146	CHRNG	ORPHA:2990
HP:0011452	Functional abnormality of the middle ear	90	ACVR1	OMIM:135100
HP:0011452	Functional abnormality of the middle ear	2263	FGFR2	ORPHA:87
HP:0011452	Functional abnormality of the middle ear	2263	FGFR2	ORPHA:2363
HP:0011452	Functional abnormality of the middle ear	2263	FGFR2	ORPHA:794
HP:0011452	Functional abnormality of the middle ear	2263	FGFR2	OMIM:123500
HP:0011452	Functional abnormality of the middle ear	2263	FGFR2	ORPHA:207
HP:0011452	Functional abnormality of the middle ear	2590	GALNT2	OMIM:618885
HP:0011452	Functional abnormality of the middle ear	4853	NOTCH2	OMIM:102500
HP:0011452	Functional abnormality of the middle ear	3423	IDS	ORPHA:217085
HP:0011452	Functional abnormality of the middle ear	3423	IDS	ORPHA:217093
HP:0011452	Functional abnormality of the middle ear	90993	CREB3L1	OMIM:616229
HP:0011452	Functional abnormality of the middle ear	7428	VHL	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	7428	VHL	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	5979	RET	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	5979	RET	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	1788	DNMT3A	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	2034	EPAS1	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	6392	SDHD	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	6392	SDHD	OMIM:168000
HP:0011452	Functional abnormality of the middle ear	6392	SDHD	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	6390	SDHB	ORPHA:276621
HP:0011452	Functional abnormality of the middle ear	6390	SDHB	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	7020	TFAP2A	OMIM:113620
HP:0011452	Functional abnormality of the middle ear	7020	TFAP2A	ORPHA:1297
HP:0011452	Functional abnormality of the middle ear	9401	RECQL4	OMIM:218600
HP:0011452	Functional abnormality of the middle ear	9401	RECQL4	ORPHA:1225
HP:0011452	Functional abnormality of the middle ear	23347	SMCHD1	OMIM:603457
HP:0011452	Functional abnormality of the middle ear	6885	MAP3K7	OMIM:157800
HP:0011452	Functional abnormality of the middle ear	6885	MAP3K7	ORPHA:3238
HP:0011452	Functional abnormality of the middle ear	6885	MAP3K7	ORPHA:1826
HP:0011452	Functional abnormality of the middle ear	6885	MAP3K7	OMIM:617137
HP:0011452	Functional abnormality of the middle ear	57167	SALL4	ORPHA:959
HP:0011452	Functional abnormality of the middle ear	83879	CDCA7	OMIM:616910
HP:0011452	Functional abnormality of the middle ear	8642	DCHS1	OMIM:601390
HP:0011452	Functional abnormality of the middle ear	8642	DCHS1	ORPHA:314679
HP:0011452	Functional abnormality of the middle ear	53834	FGFRL1	OMIM:194190
HP:0011452	Functional abnormality of the middle ear	1487	CTBP1	OMIM:194190
HP:0011452	Functional abnormality of the middle ear	3954	LETM1	OMIM:194190
HP:0011452	Functional abnormality of the middle ear	7468	NSD2	OMIM:194190
HP:0011452	Functional abnormality of the middle ear	10815	CPLX1	OMIM:194190
HP:0011452	Functional abnormality of the middle ear	10815	CPLX1	OMIM:617976
HP:0011452	Functional abnormality of the middle ear	8200	GDF5	ORPHA:3237
HP:0011452	Functional abnormality of the middle ear	2254	FGF9	ORPHA:3237
HP:0011452	Functional abnormality of the middle ear	392255	GDF6	OMIM:118100
HP:0011452	Functional abnormality of the middle ear	3590	IL11RA	OMIM:614188
HP:0011452	Functional abnormality of the middle ear	9508	ADAMTS3	ORPHA:2136
HP:0011452	Functional abnormality of the middle ear	147372	CCBE1	ORPHA:2136
HP:0011452	Functional abnormality of the middle ear	147372	CCBE1	OMIM:235510
HP:0011452	Functional abnormality of the middle ear	79633	FAT4	ORPHA:2136
HP:0011452	Functional abnormality of the middle ear	79633	FAT4	ORPHA:314679
HP:0011452	Functional abnormality of the middle ear	79633	FAT4	OMIM:615546
HP:0011452	Functional abnormality of the middle ear	1909	EDNRA	OMIM:616367
HP:0011452	Functional abnormality of the middle ear	1743	DLST	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	4191	MDH2	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	6389	SDHA	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	23095	KIF1B	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	2271	FH	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	8402	SLC25A11	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	54949	SDHAF2	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	55654	TMEM127	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	4763	NF1	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	6391	SDHC	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	4149	MAX	ORPHA:29072
HP:0011452	Functional abnormality of the middle ear	5590	PRKCZ	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	2563	GABRD	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	23013	SPEN	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	23013	SPEN	OMIM:619312
HP:0011452	Functional abnormality of the middle ear	8510	MMP23B	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	7798	LUZP1	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	6497	SKI	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	6497	SKI	ORPHA:2462
HP:0011452	Functional abnormality of the middle ear	6497	SKI	OMIM:182212
HP:0011452	Functional abnormality of the middle ear	10630	PDPN	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	3339	HSPG2	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	10277	UBE4B	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	8514	KCNAB2	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	473	RERE	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	63976	PRDM16	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	54897	CASZ1	ORPHA:1606
HP:0011452	Functional abnormality of the middle ear	1280	COL2A1	OMIM:108300
HP:0011452	Functional abnormality of the middle ear	1280	COL2A1	OMIM:132450
HP:0011452	Functional abnormality of the middle ear	1280	COL2A1	OMIM:156550
HP:0011452	Functional abnormality of the middle ear	8085	KMT2D	OMIM:620186
HP:0011452	Functional abnormality of the middle ear	8085	KMT2D	ORPHA:2322
HP:0011452	Functional abnormality of the middle ear	145258	GSC	OMIM:602471
HP:0011452	Functional abnormality of the middle ear	10907	TXNL4A	OMIM:608572
HP:0011452	Functional abnormality of the middle ear	6628	SNRPB	ORPHA:1393
HP:0011452	Functional abnormality of the middle ear	6628	SNRPB	OMIM:117650
HP:0011452	Functional abnormality of the middle ear	4849	CNOT3	OMIM:618672
HP:0011452	Functional abnormality of the middle ear	2255	FGF10	ORPHA:2363
HP:0011452	Functional abnormality of the middle ear	6231	RPS26	OMIM:613309
HP:0011452	Functional abnormality of the middle ear	2316	FLNA	OMIM:304120
HP:0011452	Functional abnormality of the middle ear	2316	FLNA	ORPHA:1826
HP:0011452	Functional abnormality of the middle ear	2316	FLNA	OMIM:311300
HP:0011452	Functional abnormality of the middle ear	11107	PRDM5	ORPHA:90354
HP:0011452	Functional abnormality of the middle ear	84627	ZNF469	ORPHA:90354
HP:0011452	Functional abnormality of the middle ear	55343	SLC35C1	ORPHA:99843
HP:0011452	Functional abnormality of the middle ear	6949	TCOF1	OMIM:154500
HP:0011452	Functional abnormality of the middle ear	6949	TCOF1	ORPHA:861
HP:0011452	Functional abnormality of the middle ear	25836	NIPBL	OMIM:122470
HP:0011452	Functional abnormality of the middle ear	25836	NIPBL	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	50945	TBX22	ORPHA:921
HP:0011452	Functional abnormality of the middle ear	25981	DNAH1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	115948	ODAD3	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	54768	HYDIN	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	352909	DNAAF3	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	27148	STK36	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	51314	NME8	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	92749	DRC1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	54970	TTC12	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	152110	NEK10	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	8481	OFD1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	8481	OFD1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	8481	OFD1	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	2302	FOXJ1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	221421	RSPH9	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	85478	CCDC65	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	55036	CCDC40	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	51364	ZMYND10	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	64446	DNAI2	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	6674	SPAG1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	83544	DNAL1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	89765	RSPH1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	83538	ODAD4	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	200373	CFAP221	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	374407	DNAJB13	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	55172	DNAAF2	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	161582	DNAAF4	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	2622	GAS8	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	2622	GAS8	OMIM:616726
HP:0011452	Functional abnormality of the middle ear	23639	DNAAF11	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	27019	DNAI1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	27019	DNAI1	OMIM:244400
HP:0011452	Functional abnormality of the middle ear	345895	RSPH4A	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	54919	DNAAF5	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	6103	RPGR	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	6103	RPGR	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	388389	CCDC103	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	93233	ODAD1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	55130	ODAD2	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	1767	DNAH5	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	83861	RSPH3	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	345643	MCIDAS	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	56683	CFAP298	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	79925	SPEF2	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	10309	CCNO	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	115399	LRRC56	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	139212	DNAAF6	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	123872	DNAAF1	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	339829	CCDC39	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	8701	DNAH11	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	1770	DNAH9	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	246176	GAS2L2	ORPHA:244
HP:0011452	Functional abnormality of the middle ear	25970	SH2B1	ORPHA:261197
HP:0011452	Functional abnormality of the middle ear	2317	FLNB	OMIM:150250
HP:0011452	Functional abnormality of the middle ear	2317	FLNB	ORPHA:503
HP:0011452	Functional abnormality of the middle ear	9533	POLR1C	OMIM:248390
HP:0011452	Functional abnormality of the middle ear	9533	POLR1C	ORPHA:861
HP:0011452	Functional abnormality of the middle ear	51053	GMNN	OMIM:616835
HP:0011452	Functional abnormality of the middle ear	2200	FBN1	ORPHA:2462
HP:0011452	Functional abnormality of the middle ear	196528	ARID2	OMIM:617808
HP:0011452	Functional abnormality of the middle ear	10456	HAX1	OMIM:610738
HP:0011452	Functional abnormality of the middle ear	6309	SC5D	OMIM:607330
HP:0011452	Functional abnormality of the middle ear	7291	TWIST1	ORPHA:794
HP:0011452	Functional abnormality of the middle ear	9949	AMMECR1	OMIM:300990
HP:0011452	Functional abnormality of the middle ear	9361	LONP1	OMIM:600373
HP:0011452	Functional abnormality of the middle ear	92840	REEP6	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6094	ROM1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6017	RLBP1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	7401	CLRN1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	24	ABCA4	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	130557	ZNF513	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	582	BBS1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	92211	CDHR1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	23568	ARL2BP	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6121	RPE65	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	54806	AHI1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6101	RP1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	3419	IDH3A	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	4751	NEK2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	346007	EYS	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	8100	IFT88	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	23020	SNRNP200	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	762	CA4	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	138050	HGSNAT	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	196	AHR	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	3614	IMPDH1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	123016	TTC8	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	1406	CRX	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5148	PDE6G	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	26160	IFT172	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	26121	PRPF31	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	583	BBS2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	4117	MAK	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	25794	FSCN2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	375298	CERKL	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	3420	IDH3B	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	57670	KIAA1549	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	7275	TUB	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	24148	PRPF6	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	23418	CRB1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	10461	MERTK	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	57709	SLC7A14	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	768206	PRCD	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	7399	USH2A	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	23370	ARHGEF18	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5949	RBP3	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6010	RHO	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6100	RP9	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	10002	NR2E3	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	9227	LRAT	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	84140	FAM161A	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	55812	SPATA7	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	55624	POMGNT1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	79797	ZNF408	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	403	ARL3	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5145	PDE6A	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	10210	TOPORS	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	10210	TOPORS	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	8842	PROM1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	9128	PRPF4	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	145226	RDH12	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	50939	IMPG2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	49855	SCAPER	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	9742	IFT140	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	2979	GUCA1B	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	1259	CNGA1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	1258	CNGB1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	60509	AGBL5	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5961	PRPH2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	388939	PCARE	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	7439	BEST1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	9785	DHX38	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	7287	TULP1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5995	RGR	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	9129	PRPF3	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	55975	KLHL7	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	3617	IMPG1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	94137	RP1L1	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5158	PDE6B	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6102	RP2	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	55857	KIZ	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	64218	SEMA4A	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	4901	NRL	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	157657	CFAP418	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	10594	PRPF8	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	84100	ARL6	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	6295	SAG	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	79947	DHDDS	ORPHA:791
HP:0011452	Functional abnormality of the middle ear	5648	MASP1	OMIM:257920
HP:0011452	Functional abnormality of the middle ear	5396	PRRX1	OMIM:202650
HP:0011452	Functional abnormality of the middle ear	9759	HDAC4	ORPHA:1001
HP:0011452	Functional abnormality of the middle ear	7314	UBB	ORPHA:99772
HP:0011452	Functional abnormality of the middle ear	57822	GRHL3	ORPHA:99772
HP:0011452	Functional abnormality of the middle ear	27125	AFF4	ORPHA:444077
HP:0011452	Functional abnormality of the middle ear	1387	CREBBP	ORPHA:353281
HP:0011452	Functional abnormality of the middle ear	1387	CREBBP	ORPHA:353277
HP:0011452	Functional abnormality of the middle ear	4854	NOTCH3	OMIM:130720
HP:0011452	Functional abnormality of the middle ear	4854	NOTCH3	ORPHA:2789
HP:0011452	Functional abnormality of the middle ear	2623	GATA1	OMIM:190685
HP:0011452	Functional abnormality of the middle ear	55215	FANCI	OMIM:609053
HP:0011452	Functional abnormality of the middle ear	7403	KDM6A	ORPHA:2322
HP:0011452	Functional abnormality of the middle ear	2033	EP300	ORPHA:353284
HP:0011452	Functional abnormality of the middle ear	55033	FKBP14	OMIM:614557
HP:0011452	Functional abnormality of the middle ear	79158	GNPTAB	ORPHA:576
HP:0011452	Functional abnormality of the middle ear	5075	PAX1	ORPHA:2792
HP:0011452	Functional abnormality of the middle ear	2077	ERF	ORPHA:207
HP:0011452	Functional abnormality of the middle ear	1312	COMT	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	221037	JMJD1C	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	2812	GP1BB	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	6239	RREB1	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	6899	TBX1	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	7290	HIRA	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	9632	SEC24C	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	7353	UFD1	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	421	ARVCF	ORPHA:567
HP:0011452	Functional abnormality of the middle ear	7703	PCGF2	OMIM:618371
HP:0011452	Functional abnormality of the middle ear	4784	NFIX	ORPHA:561
HP:0011452	Functional abnormality of the middle ear	774	CACNA1B	OMIM:618497
HP:0011452	Functional abnormality of the middle ear	139285	AMER1	ORPHA:2780
HP:0011452	Functional abnormality of the middle ear	139285	AMER1	OMIM:300373
HP:0011452	Functional abnormality of the middle ear	9343	EFTUD2	OMIM:610536
HP:0011452	Functional abnormality of the middle ear	9343	EFTUD2	ORPHA:79113
HP:0011452	Functional abnormality of the middle ear	84172	POLR1B	OMIM:618939
HP:0011452	Functional abnormality of the middle ear	84172	POLR1B	ORPHA:861
HP:0011452	Functional abnormality of the middle ear	760	CA2	ORPHA:2785
HP:0011452	Functional abnormality of the middle ear	23476	BRD4	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	9126	SMC3	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	8243	SMC1A	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	55869	HDAC8	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	5885	RAD21	ORPHA:199
HP:0011452	Functional abnormality of the middle ear	4613	MYCN	ORPHA:391641
HP:0011452	Functional abnormality of the middle ear	29957	SLC25A24	ORPHA:2095
HP:0011452	Functional abnormality of the middle ear	29957	SLC25A24	OMIM:612289
HP:0011452	Functional abnormality of the middle ear	65250	CPLANE1	OMIM:277170
HP:0011452	Functional abnormality of the middle ear	65250	CPLANE1	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	8092	ALX1	ORPHA:306542
HP:0011452	Functional abnormality of the middle ear	5167	ENPP1	ORPHA:51608
HP:0011452	Functional abnormality of the middle ear	368	ABCC6	ORPHA:51608
HP:0011452	Functional abnormality of the middle ear	28962	OSTM1	ORPHA:85179
HP:0011452	Functional abnormality of the middle ear	100996717	NOTCH2NLC	OMIM:619473
HP:0011452	Functional abnormality of the middle ear	246329	STAC3	ORPHA:168572
HP:0011452	Functional abnormality of the middle ear	246329	STAC3	OMIM:255995
HP:0011452	Functional abnormality of the middle ear	2131	EXT1	ORPHA:502
HP:0011452	Functional abnormality of the middle ear	7227	TRPS1	ORPHA:502
HP:0011452	Functional abnormality of the middle ear	5456	POU3F4	OMIM:304400
HP:0011452	Functional abnormality of the middle ear	5456	POU3F4	ORPHA:1435
HP:0011452	Functional abnormality of the middle ear	10804	GJB6	OMIM:304400
HP:0011452	Functional abnormality of the middle ear	2706	GJB2	OMIM:304400
HP:0011452	Functional abnormality of the middle ear	4000	LMNA	ORPHA:740
HP:0011452	Functional abnormality of the middle ear	10269	ZMPSTE24	ORPHA:740
HP:0011452	Functional abnormality of the middle ear	51082	POLR1D	ORPHA:861
HP:0011452	Functional abnormality of the middle ear	51082	POLR1D	OMIM:613717
HP:0011452	Functional abnormality of the middle ear	4041	LRP5	OMIM:607634
HP:0011452	Functional abnormality of the middle ear	51715	RAB23	OMIM:201000
HP:0011452	Functional abnormality of the middle ear	4222	MEOX1	OMIM:214300
HP:0011452	Functional abnormality of the middle ear	26137	ZBTB20	ORPHA:3042
HP:0011452	Functional abnormality of the middle ear	1984	EIF5A	OMIM:619376
HP:0011452	Functional abnormality of the middle ear	650	BMP2	OMIM:617877
HP:0011452	Functional abnormality of the middle ear	9487	PIGL	OMIM:280000
HP:0011452	Functional abnormality of the middle ear	4621	MYH3	ORPHA:2990
HP:0011452	Functional abnormality of the middle ear	4750	NEK1	ORPHA:2751
HP:0011452	Functional abnormality of the middle ear	26123	TCTN3	ORPHA:2753
HP:0011452	Functional abnormality of the middle ear	26123	TCTN3	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	5286	PIK3C2A	ORPHA:557003
HP:0011452	Functional abnormality of the middle ear	9851	KIAA0753	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	5147	PDE6D	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	51259	TMEM216	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	317662	FAM149B1	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	374654	KIF7	ORPHA:2754
HP:0011452	Functional abnormality of the middle ear	90121	TSR2	OMIM:300946
HP:0011452	Functional abnormality of the middle ear	4921	DDR2	OMIM:618175
HP:0011452	Functional abnormality of the middle ear	3476	IGBP1	OMIM:300472
HP:0011452	Functional abnormality of the middle ear	64840	PORCN	OMIM:305600
HP:0011452	Functional abnormality of the middle ear	126792	B3GALT6	ORPHA:536467
HP:0011452	Functional abnormality of the middle ear	166929	SGMS2	OMIM:126550
HP:0011452	Functional abnormality of the middle ear	415	ARSL	ORPHA:79345
HP:0011452	Functional abnormality of the middle ear	1302	COL11A2	OMIM:215150
HP:0011452	Functional abnormality of the middle ear	4125	MAN2B1	ORPHA:309282
HP:0011452	Functional abnormality of the middle ear	4125	MAN2B1	ORPHA:309288
HP:0011452	Functional abnormality of the middle ear	3199	HOXA2	OMIM:612290
HP:0011452	Functional abnormality of the middle ear	55755	CDK5RAP2	OMIM:604804
HP:0011452	Functional abnormality of the middle ear	1009	CDH11	ORPHA:1299
HP:0011452	Functional abnormality of the middle ear	55636	CHD7	OMIM:214800
HP:0011452	Functional abnormality of the middle ear	84173	ELMOD3	OMIM:615429
HP:0011452	Functional abnormality of the middle ear	55294	FBXW7	OMIM:620012
HP:0011452	Functional abnormality of the middle ear	56975	FAM20C	OMIM:259775
HP:0011452	Functional abnormality of the middle ear	6234	RPS28	OMIM:606164
HP:0011452	Functional abnormality of the middle ear	9131	AIFM1	OMIM:300614
HP:0011452	Functional abnormality of the middle ear	9894	TELO2	ORPHA:488642
HP:0011452	Functional abnormality of the middle ear	29123	ANKRD11	ORPHA:2332
HP:0011452	Functional abnormality of the middle ear	7407	VARS1	OMIM:617802
HP:0011452	Functional abnormality of the middle ear	1906	EDN1	OMIM:615706
HP:0011452	Functional abnormality of the middle ear	9692	PRORP	OMIM:619737
HP:0011452	Functional abnormality of the middle ear	81624	DIAPH3	OMIM:609129
HP:0011452	Functional abnormality of the middle ear	9381	OTOF	OMIM:601071
HP:0011452	Functional abnormality of the middle ear	9526	MPDU1	ORPHA:79323
HP:0011452	Functional abnormality of the middle ear	257	ALX3	ORPHA:391474
HP:0011452	Functional abnormality of the middle ear	1513	CTSK	ORPHA:763
HP:0011452	Functional abnormality of the middle ear	9241	NOG	OMIM:186500
HP:0011452	Functional abnormality of the middle ear	5718	PSMD12	ORPHA:529962
HP:0011452	Functional abnormality of the middle ear	2186	BPTF	ORPHA:529962
HP:0011452	Functional abnormality of the middle ear	2261	FGFR3	ORPHA:15
HP:0011452	Functional abnormality of the middle ear	1278	COL1A2	ORPHA:230851
HP:0011452	Functional abnormality of the middle ear	374879	ZNF699	OMIM:619488
HP:0011454	Abnormality of the malleus	3590	IL11RA	OMIM:614188
HP:0011455	Absent malleus	3590	IL11RA	OMIM:614188
HP:0011456	Absent stapes	10735	STAG2	OMIM:301022
HP:0011457	Loss of eyelashes	100151683	RNU4ATAC	ORPHA:2636
HP:0011457	Loss of eyelashes	4000	LMNA	ORPHA:740
HP:0011457	Loss of eyelashes	10269	ZMPSTE24	ORPHA:740
HP:0011457	Loss of eyelashes	7390	UROS	OMIM:263700
HP:0011457	Loss of eyelashes	7390	UROS	ORPHA:79277
HP:0011457	Loss of eyelashes	2623	GATA1	ORPHA:79277
HP:0011457	Loss of eyelashes	7389	UROD	ORPHA:95159
HP:0011458	Abdominal symptom	1594	CYP27B1	ORPHA:289157
HP:0011458	Abdominal symptom	1594	CYP27B1	OMIM:264700
HP:0011458	Abdominal symptom	120227	CYP2R1	ORPHA:289157
HP:0011458	Abdominal symptom	579	NKX3-2	OMIM:613330
HP:0011458	Abdominal symptom	2542	SLC37A4	OMIM:232220
HP:0011458	Abdominal symptom	2542	SLC37A4	ORPHA:79259
HP:0011458	Abdominal symptom	23405	DICER1	OMIM:618272
HP:0011458	Abdominal symptom	3636	INPPL1	OMIM:258480
HP:0011458	Abdominal symptom	51098	IFT52	OMIM:617102
HP:0011458	Abdominal symptom	23169	SLC35D1	OMIM:269250
HP:0011458	Abdominal symptom	79158	GNPTAB	OMIM:252500
HP:0011458	Abdominal symptom	79158	GNPTAB	ORPHA:576
HP:0011458	Abdominal symptom	3930	LBR	OMIM:215140
HP:0011458	Abdominal symptom	3930	LBR	OMIM:618019
HP:0011458	Abdominal symptom	10020	GNE	OMIM:269921
HP:0011458	Abdominal symptom	2538	G6PC1	OMIM:232200
HP:0011458	Abdominal symptom	1302	COL11A2	OMIM:614524
HP:0011458	Abdominal symptom	55764	IFT122	OMIM:218330
HP:0011458	Abdominal symptom	2317	FLNB	OMIM:108720
HP:0011458	Abdominal symptom	5745	PTH1R	ORPHA:50945
HP:0011458	Abdominal symptom	1301	COL11A1	OMIM:228520
HP:0011458	Abdominal symptom	7421	VDR	OMIM:277440
HP:0011458	Abdominal symptom	5696	PSMB8	OMIM:256040
HP:0011458	Abdominal symptom	54808	DYM	ORPHA:239
HP:0011458	Abdominal symptom	168667	BMPER	OMIM:608022
HP:0011458	Abdominal symptom	84334	COA8	ORPHA:436271
HP:0011458	Abdominal symptom	4522	MTHFD1	OMIM:617780
HP:0011458	Abdominal symptom	4141	MARS1	OMIM:615486
HP:0011458	Abdominal symptom	3284	HSD3B2	ORPHA:90791
HP:0011458	Abdominal symptom	8942	KYNU	OMIM:236800
HP:0011458	Abdominal symptom	65998	ZFTA	ORPHA:251636
HP:0011458	Abdominal symptom	5970	RELA	ORPHA:251636
HP:0011458	Abdominal symptom	388962	BOLA3	OMIM:614299
HP:0011458	Abdominal symptom	1591	CYP24A1	OMIM:143880
HP:0011458	Abdominal symptom	84300	UQCC2	OMIM:615824
HP:0011458	Abdominal symptom	7809	BSND	ORPHA:89938
HP:0011458	Abdominal symptom	1187	CLCNKA	ORPHA:89938
HP:0011458	Abdominal symptom	51594	NBAS	OMIM:616483
HP:0011458	Abdominal symptom	4519	MT-CYB	ORPHA:137675
HP:0011458	Abdominal symptom	80704	SLC19A3	OMIM:607483
HP:0011458	Abdominal symptom	3251	HPRT1	OMIM:300322
HP:0011458	Abdominal symptom	4488	MSX2	ORPHA:60015
HP:0011458	Abdominal symptom	60529	ALX4	ORPHA:60015
HP:0011458	Abdominal symptom	1288	COL4A6	ORPHA:1018
HP:0011458	Abdominal symptom	1287	COL4A5	ORPHA:1018
HP:0011458	Abdominal symptom	2161	F12	OMIM:610618
HP:0011458	Abdominal symptom	6326	SCN2A	OMIM:618924
HP:0011458	Abdominal symptom	3712	IVD	OMIM:243500
HP:0011458	Abdominal symptom	5903	RANBP2	ORPHA:88619
HP:0011458	Abdominal symptom	5019	OXCT1	OMIM:245050
HP:0011458	Abdominal symptom	2670	GFAP	ORPHA:363717
HP:0011458	Abdominal symptom	2819	GPD1	OMIM:614480
HP:0011458	Abdominal symptom	51081	MRPS7	OMIM:617872
HP:0011458	Abdominal symptom	1537	CYC1	OMIM:615453
HP:0011458	Abdominal symptom	8139	GAN	OMIM:256850
HP:0011458	Abdominal symptom	50617	ATP6V0A4	OMIM:602722
HP:0011458	Abdominal symptom	3735	KARS1	OMIM:619147
HP:0011458	Abdominal symptom	27034	ACAD8	ORPHA:79159
HP:0011458	Abdominal symptom	2582	GALE	OMIM:230350
HP:0011458	Abdominal symptom	197322	ACSF3	OMIM:614265
HP:0011458	Abdominal symptom	2072	ERCC4	ORPHA:90321
HP:0011458	Abdominal symptom	5651	TMPRSS15	OMIM:226200
HP:0011458	Abdominal symptom	790	CAD	OMIM:616457
HP:0011458	Abdominal symptom	84936	ZFYVE19	OMIM:619849
HP:0011458	Abdominal symptom	973	CD79A	OMIM:613501
HP:0011458	Abdominal symptom	973	CD79A	ORPHA:33110
HP:0011458	Abdominal symptom	2212	FCGR2A	OMIM:219700
HP:0011458	Abdominal symptom	6772	STAT1	OMIM:614162
HP:0011458	Abdominal symptom	6772	STAT1	ORPHA:391487
HP:0011458	Abdominal symptom	23495	TNFRSF13B	OMIM:240500
HP:0011458	Abdominal symptom	115650	TNFRSF13C	OMIM:240500
HP:0011458	Abdominal symptom	29851	ICOS	OMIM:240500
HP:0011458	Abdominal symptom	29851	ICOS	OMIM:607594
HP:0011458	Abdominal symptom	930	CD19	OMIM:240500
HP:0011458	Abdominal symptom	28755	TRAC	OMIM:615387
HP:0011458	Abdominal symptom	50674	NEUROG3	OMIM:610370
HP:0011458	Abdominal symptom	50674	NEUROG3	ORPHA:83620
HP:0011458	Abdominal symptom	1174	AP1S1	OMIM:609313
HP:0011458	Abdominal symptom	1789	DNMT3B	OMIM:242860
HP:0011458	Abdominal symptom	1621	DBH	ORPHA:230
HP:0011458	Abdominal symptom	222546	RFX6	OMIM:615710
HP:0011458	Abdominal symptom	9841	ZBTB24	OMIM:614069
HP:0011458	Abdominal symptom	2203	FBP1	ORPHA:348
HP:0011458	Abdominal symptom	79796	ALG9	ORPHA:79328
HP:0011458	Abdominal symptom	974	CD79B	OMIM:612692
HP:0011458	Abdominal symptom	974	CD79B	ORPHA:33110
HP:0011458	Abdominal symptom	10165	SLC25A13	ORPHA:247598
HP:0011458	Abdominal symptom	10165	SLC25A13	ORPHA:247585
HP:0011458	Abdominal symptom	2683	B4GALT1	ORPHA:79332
HP:0011458	Abdominal symptom	4351	MPI	ORPHA:79319
HP:0011458	Abdominal symptom	4351	MPI	OMIM:602579
HP:0011458	Abdominal symptom	34	ACADM	ORPHA:42
HP:0011458	Abdominal symptom	5122	PCSK1	OMIM:600955
HP:0011458	Abdominal symptom	55739	NAXD	OMIM:618321
HP:0011458	Abdominal symptom	326	AIRE	OMIM:240300
HP:0011458	Abdominal symptom	85365	ALG2	OMIM:607906
HP:0011458	Abdominal symptom	8813	DPM1	ORPHA:79322
HP:0011458	Abdominal symptom	204	AK2	ORPHA:33355
HP:0011458	Abdominal symptom	3078	CFHR1	OMIM:235400
HP:0011458	Abdominal symptom	10878	CFHR3	OMIM:235400
HP:0011458	Abdominal symptom	3543	IGLL1	ORPHA:33110
HP:0011458	Abdominal symptom	29760	BLNK	ORPHA:33110
HP:0011458	Abdominal symptom	56262	LRRC8A	ORPHA:33110
HP:0011458	Abdominal symptom	6448	SGSH	OMIM:252900
HP:0011458	Abdominal symptom	55388	MCM10	OMIM:619313
HP:0011458	Abdominal symptom	6948	TCN2	OMIM:275350
HP:0011458	Abdominal symptom	959	CD40LG	OMIM:308230
HP:0011458	Abdominal symptom	9948	WDR1	OMIM:150550
HP:0011458	Abdominal symptom	79631	EFL1	OMIM:617941
HP:0011458	Abdominal symptom	9837	GINS1	OMIM:617827
HP:0011458	Abdominal symptom	3938	LCT	OMIM:223000
HP:0011458	Abdominal symptom	4128	MAOA	OMIM:300615
HP:0011458	Abdominal symptom	6718	AKR1D1	OMIM:235555
HP:0011458	Abdominal symptom	22845	DOLK	OMIM:610768
HP:0011458	Abdominal symptom	3431	SP110	ORPHA:79124
HP:0011458	Abdominal symptom	3158	HMGCS2	OMIM:605911
HP:0011458	Abdominal symptom	3172	HNF4A	ORPHA:263455
HP:0011458	Abdominal symptom	3560	IL2RB	OMIM:618495
HP:0011458	Abdominal symptom	175	AGA	OMIM:208400
HP:0011458	Abdominal symptom	80270	HSD3B7	OMIM:607765
HP:0011458	Abdominal symptom	9420	CYP7B1	OMIM:613812
HP:0011458	Abdominal symptom	90417	KNSTRN	ORPHA:221139
HP:0011458	Abdominal symptom	79783	SUGCT	OMIM:231690
HP:0011458	Abdominal symptom	7482	WNT2B	OMIM:618168
HP:0011458	Abdominal symptom	551	AVP	ORPHA:30925
HP:0011458	Abdominal symptom	3458	IFNG	OMIM:618963
HP:0011458	Abdominal symptom	138050	HGSNAT	OMIM:252930
HP:0011458	Abdominal symptom	4669	NAGLU	OMIM:252920
HP:0011458	Abdominal symptom	6584	SLC22A5	OMIM:212140
HP:0011458	Abdominal symptom	64682	ANAPC1	ORPHA:221008
HP:0011458	Abdominal symptom	4594	MMUT	ORPHA:289916
HP:0011458	Abdominal symptom	4594	MMUT	ORPHA:79312
HP:0011458	Abdominal symptom	1776	DNASE1L3	ORPHA:36412
HP:0011458	Abdominal symptom	79932	KIAA0319L	ORPHA:220402
HP:0011458	Abdominal symptom	113235	SLC46A1	ORPHA:90045
HP:0011458	Abdominal symptom	4609	MYC	ORPHA:543
HP:0011458	Abdominal symptom	64072	CDH23	ORPHA:2965
HP:0011458	Abdominal symptom	64072	CDH23	ORPHA:91347
HP:0011458	Abdominal symptom	9049	AIP	ORPHA:2965
HP:0011458	Abdominal symptom	5053	PAH	ORPHA:79254
HP:0011458	Abdominal symptom	3106	HLA-B	ORPHA:36426
HP:0011458	Abdominal symptom	3106	HLA-B	ORPHA:117
HP:0011458	Abdominal symptom	10320	IKZF1	ORPHA:36426
HP:0011458	Abdominal symptom	114548	NLRP3	ORPHA:47045
HP:0011458	Abdominal symptom	114548	NLRP3	ORPHA:1451
HP:0011458	Abdominal symptom	85358	SHANK3	ORPHA:48652
HP:0011458	Abdominal symptom	3141	HLCS	ORPHA:79242
HP:0011458	Abdominal symptom	285282	RABL3	ORPHA:1333
HP:0011458	Abdominal symptom	675	BRCA2	ORPHA:1333
HP:0011458	Abdominal symptom	1029	CDKN2A	ORPHA:1333
HP:0011458	Abdominal symptom	79728	PALB2	ORPHA:1333
HP:0011458	Abdominal symptom	4089	SMAD4	ORPHA:1333
HP:0011458	Abdominal symptom	23022	PALLD	ORPHA:1333
HP:0011458	Abdominal symptom	5873	RAB27A	ORPHA:79477
HP:0011458	Abdominal symptom	1499	CTNNB1	ORPHA:54595
HP:0011458	Abdominal symptom	8314	BAP1	ORPHA:2495
HP:0011458	Abdominal symptom	4771	NF2	ORPHA:2495
HP:0011458	Abdominal symptom	6598	SMARCB1	ORPHA:2495
HP:0011458	Abdominal symptom	6598	SMARCB1	ORPHA:99966
HP:0011458	Abdominal symptom	5155	PDGFB	ORPHA:2495
HP:0011458	Abdominal symptom	84231	TRAF7	ORPHA:2495
HP:0011458	Abdominal symptom	207	AKT1	ORPHA:2495
HP:0011458	Abdominal symptom	7015	TERT	ORPHA:2495
HP:0011458	Abdominal symptom	51684	SUFU	ORPHA:2495
HP:0011458	Abdominal symptom	6605	SMARCE1	ORPHA:2495
HP:0011458	Abdominal symptom	6049	RNF6	ORPHA:99977
HP:0011458	Abdominal symptom	51741	WWOX	ORPHA:99977
HP:0011458	Abdominal symptom	9940	DLEC1	ORPHA:99977
HP:0011458	Abdominal symptom	1493	CTLA4	ORPHA:900
HP:0011458	Abdominal symptom	26191	PTPN22	ORPHA:900
HP:0011458	Abdominal symptom	3115	HLA-DPB1	ORPHA:900
HP:0011458	Abdominal symptom	5657	PRTN3	ORPHA:900
HP:0011458	Abdominal symptom	3113	HLA-DPA1	ORPHA:900
HP:0011458	Abdominal symptom	2624	GATA2	ORPHA:3226
HP:0011458	Abdominal symptom	57570	TRMT5	OMIM:616539
HP:0011458	Abdominal symptom	79651	RHBDF2	ORPHA:2198
HP:0011458	Abdominal symptom	25978	CHMP2B	ORPHA:803
HP:0011458	Abdominal symptom	3178	HNRNPA1	ORPHA:803
HP:0011458	Abdominal symptom	8148	TAF15	ORPHA:803
HP:0011458	Abdominal symptom	5445	PON2	ORPHA:803
HP:0011458	Abdominal symptom	9217	VAPB	ORPHA:803
HP:0011458	Abdominal symptom	8878	SQSTM1	ORPHA:803
HP:0011458	Abdominal symptom	5630	PRPH	ORPHA:803
HP:0011458	Abdominal symptom	29110	TBK1	ORPHA:803
HP:0011458	Abdominal symptom	29110	TBK1	ORPHA:1930
HP:0011458	Abdominal symptom	55830	GLT8D1	ORPHA:803
HP:0011458	Abdominal symptom	755	CFAP410	ORPHA:803
HP:0011458	Abdominal symptom	10891	PPARGC1A	ORPHA:803
HP:0011458	Abdominal symptom	6647	SOD1	ORPHA:803
HP:0011458	Abdominal symptom	10133	OPTN	ORPHA:803
HP:0011458	Abdominal symptom	1639	DCTN1	ORPHA:803
HP:0011458	Abdominal symptom	9896	FIG4	ORPHA:803
HP:0011458	Abdominal symptom	5444	PON1	ORPHA:803
HP:0011458	Abdominal symptom	5446	PON3	ORPHA:803
HP:0011458	Abdominal symptom	4744	NEFH	ORPHA:803
HP:0011458	Abdominal symptom	5216	PFN1	ORPHA:803
HP:0011458	Abdominal symptom	9782	MATR3	ORPHA:803
HP:0011458	Abdominal symptom	54209	TREM2	ORPHA:803
HP:0011458	Abdominal symptom	7415	VCP	ORPHA:803
HP:0011458	Abdominal symptom	283	ANG	ORPHA:803
HP:0011458	Abdominal symptom	23435	TARDBP	ORPHA:803
HP:0011458	Abdominal symptom	29978	UBQLN2	ORPHA:803
HP:0011458	Abdominal symptom	2733	GLE1	ORPHA:803
HP:0011458	Abdominal symptom	2521	FUS	ORPHA:803
HP:0011458	Abdominal symptom	4750	NEK1	ORPHA:803
HP:0011458	Abdominal symptom	2043	EPHA4	ORPHA:803
HP:0011458	Abdominal symptom	1610	DAO	ORPHA:803
HP:0011458	Abdominal symptom	2066	ERBB4	ORPHA:803
HP:0011458	Abdominal symptom	311	ANXA11	ORPHA:803
HP:0011458	Abdominal symptom	23025	UNC13A	ORPHA:803
HP:0011458	Abdominal symptom	899	CCNF	ORPHA:803
HP:0011458	Abdominal symptom	400916	CHCHD10	ORPHA:803
HP:0011458	Abdominal symptom	10079	ATP9A	OMIM:620242
HP:0011458	Abdominal symptom	1616	DAXX	ORPHA:100075
HP:0011458	Abdominal symptom	5728	PTEN	ORPHA:65285
HP:0011458	Abdominal symptom	149233	IL23R	ORPHA:117
HP:0011458	Abdominal symptom	3586	IL10	ORPHA:117
HP:0011458	Abdominal symptom	1230	CCR1	ORPHA:117
HP:0011458	Abdominal symptom	355	FAS	ORPHA:117
HP:0011458	Abdominal symptom	101928376	IL12A-AS1	ORPHA:117
HP:0011458	Abdominal symptom	7099	TLR4	ORPHA:117
HP:0011458	Abdominal symptom	3459	IFNGR1	ORPHA:117
HP:0011458	Abdominal symptom	720	C4A	ORPHA:117
HP:0011458	Abdominal symptom	337867	UBAC2	ORPHA:117
HP:0011458	Abdominal symptom	51752	ERAP1	ORPHA:117
HP:0011458	Abdominal symptom	8302	KLRC4	ORPHA:117
HP:0011458	Abdominal symptom	7187	TRAF3	ORPHA:1930
HP:0011458	Abdominal symptom	81622	UNC93B1	ORPHA:1930
HP:0011458	Abdominal symptom	148022	TICAM1	ORPHA:1930
HP:0011458	Abdominal symptom	7098	TLR3	ORPHA:1930
HP:0011458	Abdominal symptom	171023	ASXL1	ORPHA:98849
HP:0011458	Abdominal symptom	54790	TET2	ORPHA:98849
HP:0011458	Abdominal symptom	3815	KIT	ORPHA:98849
HP:0011458	Abdominal symptom	3815	KIT	ORPHA:79455
HP:0011458	Abdominal symptom	6427	SRSF2	ORPHA:98849
HP:0011458	Abdominal symptom	324	APC	ORPHA:99818
HP:0011458	Abdominal symptom	6261	RYR1	ORPHA:466650
HP:0011458	Abdominal symptom	56606	SLC2A9	ORPHA:94088
HP:0011458	Abdominal symptom	116085	SLC22A12	ORPHA:94088
HP:0011458	Abdominal symptom	4023	LPL	OMIM:238600
HP:0011458	Abdominal symptom	5314	PKHD1	ORPHA:53035
HP:0011458	Abdominal symptom	92667	MGME1	OMIM:615084
HP:0011458	Abdominal symptom	92667	MGME1	ORPHA:352447
HP:0011458	Abdominal symptom	2132	EXT2	ORPHA:466926
HP:0011458	Abdominal symptom	3736	KCNA1	ORPHA:37612
HP:0011458	Abdominal symptom	710	SERPING1	ORPHA:100050
HP:0011458	Abdominal symptom	6331	SCN5A	ORPHA:1344
HP:0011458	Abdominal symptom	4878	NPPA	ORPHA:1344
HP:0011458	Abdominal symptom	7157	TP53	OMIM:260500
HP:0011458	Abdominal symptom	5257	PHKB	ORPHA:79240
HP:0011458	Abdominal symptom	7428	VHL	ORPHA:276621
HP:0011458	Abdominal symptom	7428	VHL	ORPHA:29072
HP:0011458	Abdominal symptom	1788	DNMT3A	ORPHA:276621
HP:0011458	Abdominal symptom	2034	EPAS1	ORPHA:276621
HP:0011458	Abdominal symptom	6392	SDHD	ORPHA:276621
HP:0011458	Abdominal symptom	6392	SDHD	ORPHA:29072
HP:0011458	Abdominal symptom	6390	SDHB	ORPHA:276621
HP:0011458	Abdominal symptom	6390	SDHB	ORPHA:29072
HP:0011458	Abdominal symptom	9056	SLC7A7	OMIM:222700
HP:0011458	Abdominal symptom	1277	COL1A1	ORPHA:287
HP:0011458	Abdominal symptom	1289	COL5A1	ORPHA:287
HP:0011458	Abdominal symptom	1290	COL5A2	ORPHA:287
HP:0011458	Abdominal symptom	776	CACNA1D	ORPHA:369929
HP:0011458	Abdominal symptom	54832	VPS13C	ORPHA:2828
HP:0011458	Abdominal symptom	11315	PARK7	ORPHA:2828
HP:0011458	Abdominal symptom	7345	UCHL1	ORPHA:2828
HP:0011458	Abdominal symptom	27429	HTRA2	ORPHA:2828
HP:0011458	Abdominal symptom	120892	LRRK2	ORPHA:2828
HP:0011458	Abdominal symptom	9829	DNAJC6	ORPHA:2828
HP:0011458	Abdominal symptom	6622	SNCA	ORPHA:2828
HP:0011458	Abdominal symptom	5420	PODXL	ORPHA:2828
HP:0011458	Abdominal symptom	65018	PINK1	ORPHA:2828
HP:0011458	Abdominal symptom	8867	SYNJ1	ORPHA:2828
HP:0011458	Abdominal symptom	5071	PRKN	ORPHA:2828
HP:0011458	Abdominal symptom	5498	PPOX	ORPHA:79473
HP:0011458	Abdominal symptom	10068	IL18BP	OMIM:618549
HP:0011458	Abdominal symptom	1743	DLST	ORPHA:29072
HP:0011458	Abdominal symptom	4191	MDH2	ORPHA:29072
HP:0011458	Abdominal symptom	6389	SDHA	ORPHA:29072
HP:0011458	Abdominal symptom	23095	KIF1B	ORPHA:29072
HP:0011458	Abdominal symptom	2271	FH	ORPHA:29072
HP:0011458	Abdominal symptom	8402	SLC25A11	ORPHA:29072
HP:0011458	Abdominal symptom	54949	SDHAF2	ORPHA:29072
HP:0011458	Abdominal symptom	55654	TMEM127	ORPHA:29072
HP:0011458	Abdominal symptom	4763	NF1	ORPHA:29072
HP:0011458	Abdominal symptom	6391	SDHC	ORPHA:29072
HP:0011458	Abdominal symptom	4149	MAX	ORPHA:29072
HP:0011458	Abdominal symptom	1909	EDNRA	OMIM:157300
HP:0011458	Abdominal symptom	2099	ESR1	OMIM:157300
HP:0011458	Abdominal symptom	7124	TNF	OMIM:157300
HP:0011458	Abdominal symptom	6288	SAA1	ORPHA:85445
HP:0011458	Abdominal symptom	3075	CFH	ORPHA:244242
HP:0011458	Abdominal symptom	3426	CFI	ORPHA:244242
HP:0011458	Abdominal symptom	4179	CD46	ORPHA:244242
HP:0011458	Abdominal symptom	101101692	HELLPAR	ORPHA:244242
HP:0011458	Abdominal symptom	1027	CDKN1B	ORPHA:652
HP:0011458	Abdominal symptom	1026	CDKN1A	ORPHA:652
HP:0011458	Abdominal symptom	1030	CDKN2B	ORPHA:652
HP:0011458	Abdominal symptom	1031	CDKN2C	ORPHA:652
HP:0011458	Abdominal symptom	11330	CTRC	ORPHA:103918
HP:0011458	Abdominal symptom	6690	SPINK1	ORPHA:103918
HP:0011458	Abdominal symptom	2717	GLA	OMIM:301500
HP:0011458	Abdominal symptom	162417	NAGS	ORPHA:927
HP:0011458	Abdominal symptom	1181	CLCN2	ORPHA:404
HP:0011458	Abdominal symptom	1584	CYP11B1	ORPHA:403
HP:0011458	Abdominal symptom	1585	CYP11B2	ORPHA:403
HP:0011458	Abdominal symptom	5256	PHKA2	ORPHA:264580
HP:0011458	Abdominal symptom	5261	PHKG2	ORPHA:264580
HP:0011458	Abdominal symptom	1371	CPOX	ORPHA:79273
HP:0011458	Abdominal symptom	3762	KCNJ5	ORPHA:251274
HP:0011458	Abdominal symptom	2108	ETFA	OMIM:231680
HP:0011458	Abdominal symptom	2109	ETFB	OMIM:231680
HP:0011458	Abdominal symptom	2110	ETFDH	OMIM:231680
HP:0011458	Abdominal symptom	6335	SCN9A	OMIM:133020
HP:0011458	Abdominal symptom	6335	SCN9A	ORPHA:46348
HP:0011458	Abdominal symptom	6535	SLC6A8	OMIM:300352
HP:0011458	Abdominal symptom	6535	SLC6A8	ORPHA:52503
HP:0011458	Abdominal symptom	9860	LRIG2	OMIM:615112
HP:0011458	Abdominal symptom	9860	LRIG2	ORPHA:2704
HP:0011458	Abdominal symptom	55823	VPS11	OMIM:616683
HP:0011458	Abdominal symptom	55823	VPS11	ORPHA:466934
HP:0011458	Abdominal symptom	4010	LMX1B	ORPHA:2614
HP:0011458	Abdominal symptom	4010	LMX1B	ORPHA:495818
HP:0011458	Abdominal symptom	673	BRAF	OMIM:115150
HP:0011458	Abdominal symptom	775	CACNA1C	OMIM:620029
HP:0011458	Abdominal symptom	23417	MLYCD	OMIM:248360
HP:0011458	Abdominal symptom	81857	MED25	OMIM:616449
HP:0011458	Abdominal symptom	81857	MED25	ORPHA:464738
HP:0011458	Abdominal symptom	55777	MBD5	ORPHA:228402
HP:0011458	Abdominal symptom	55777	MBD5	OMIM:156200
HP:0011458	Abdominal symptom	5457	POU4F1	ORPHA:314647
HP:0011458	Abdominal symptom	23261	CAMTA1	ORPHA:314647
HP:0011458	Abdominal symptom	1131	CHRM3	ORPHA:2970
HP:0011458	Abdominal symptom	64324	NSD1	ORPHA:821
HP:0011458	Abdominal symptom	29072	SETD2	ORPHA:821
HP:0011458	Abdominal symptom	10297	APC2	ORPHA:821
HP:0011458	Abdominal symptom	5447	POR	ORPHA:95699
HP:0011458	Abdominal symptom	3190	HNRNPK	ORPHA:453504
HP:0011458	Abdominal symptom	3190	HNRNPK	OMIM:616580
HP:0011458	Abdominal symptom	3190	HNRNPK	ORPHA:352665
HP:0011458	Abdominal symptom	3909	LAMA3	ORPHA:79404
HP:0011458	Abdominal symptom	3918	LAMC2	ORPHA:79404
HP:0011458	Abdominal symptom	3914	LAMB3	ORPHA:79404
HP:0011458	Abdominal symptom	4292	MLH1	ORPHA:144
HP:0011458	Abdominal symptom	5395	PMS2	ORPHA:144
HP:0011458	Abdominal symptom	27030	MLH3	ORPHA:144
HP:0011458	Abdominal symptom	22909	FAN1	ORPHA:144
HP:0011458	Abdominal symptom	7048	TGFBR2	ORPHA:144
HP:0011458	Abdominal symptom	3845	KRAS	ORPHA:144
HP:0011458	Abdominal symptom	5290	PIK3CA	ORPHA:144
HP:0011458	Abdominal symptom	2956	MSH6	ORPHA:144
HP:0011458	Abdominal symptom	5378	PMS1	ORPHA:144
HP:0011458	Abdominal symptom	4436	MSH2	ORPHA:144
HP:0011458	Abdominal symptom	4784	NFIX	ORPHA:447980
HP:0011458	Abdominal symptom	215	ABCD1	ORPHA:388
HP:0011458	Abdominal symptom	2668	GDNF	ORPHA:388
HP:0011458	Abdominal symptom	6608	SMO	ORPHA:388
HP:0011458	Abdominal symptom	1889	ECE1	ORPHA:388
HP:0011458	Abdominal symptom	6720	SREBF1	ORPHA:388
HP:0011458	Abdominal symptom	1908	EDN3	ORPHA:388
HP:0011458	Abdominal symptom	1908	EDN3	ORPHA:897
HP:0011458	Abdominal symptom	223117	SEMA3D	ORPHA:388
HP:0011458	Abdominal symptom	538	ATP7A	ORPHA:388
HP:0011458	Abdominal symptom	1910	EDNRB	ORPHA:388
HP:0011458	Abdominal symptom	1910	EDNRB	ORPHA:897
HP:0011458	Abdominal symptom	10512	SEMA3C	ORPHA:388
HP:0011458	Abdominal symptom	2064	ERBB2	ORPHA:388
HP:0011458	Abdominal symptom	2065	ERBB3	ORPHA:388
HP:0011458	Abdominal symptom	4902	NRTN	ORPHA:388
HP:0011458	Abdominal symptom	3074	HEXB	ORPHA:309162
HP:0011458	Abdominal symptom	6531	SLC6A3	ORPHA:238455
HP:0011458	Abdominal symptom	6531	SLC6A3	OMIM:613135
HP:0011458	Abdominal symptom	80232	WDR26	ORPHA:513456
HP:0011458	Abdominal symptom	80232	WDR26	OMIM:617616
HP:0011458	Abdominal symptom	116931	MED12L	OMIM:618872
HP:0011458	Abdominal symptom	249	ALPL	OMIM:241500
HP:0011458	Abdominal symptom	65993	MRPS34	OMIM:617664
HP:0011458	Abdominal symptom	89910	UBE3B	OMIM:244450
HP:0011458	Abdominal symptom	64218	SEMA4A	ORPHA:440437
HP:0011458	Abdominal symptom	657	BMPR1A	ORPHA:440437
HP:0011458	Abdominal symptom	6224	RPS20	ORPHA:440437
HP:0011458	Abdominal symptom	6812	STXBP1	ORPHA:495818
HP:0011458	Abdominal symptom	10730	YME1L1	OMIM:617302
HP:0011458	Abdominal symptom	55690	PACS1	OMIM:615009
HP:0011458	Abdominal symptom	55690	PACS1	ORPHA:329224
HP:0011458	Abdominal symptom	2314	FLII	ORPHA:819
HP:0011458	Abdominal symptom	23096	IQSEC2	ORPHA:819
HP:0011458	Abdominal symptom	10743	RAI1	ORPHA:819
HP:0011458	Abdominal symptom	10743	RAI1	OMIM:182290
HP:0011458	Abdominal symptom	10522	DEAF1	ORPHA:819
HP:0011458	Abdominal symptom	10522	DEAF1	ORPHA:468620
HP:0011458	Abdominal symptom	10847	SRCAP	ORPHA:2044
HP:0011458	Abdominal symptom	3077	HFE	OMIM:176200
HP:0011458	Abdominal symptom	3508	IGHMBP2	OMIM:604320
HP:0011458	Abdominal symptom	10978	CLP1	OMIM:615803
HP:0011458	Abdominal symptom	7252	TSHB	ORPHA:90674
HP:0011458	Abdominal symptom	55650	PIGV	OMIM:239300
HP:0011458	Abdominal symptom	8029	CUBN	ORPHA:35858
HP:0011458	Abdominal symptom	81693	AMN	ORPHA:35858
HP:0011458	Abdominal symptom	1896	EDA	OMIM:305100
HP:0011458	Abdominal symptom	2590	GALNT2	OMIM:618885
HP:0011458	Abdominal symptom	113189	CHST14	ORPHA:2953
HP:0011458	Abdominal symptom	113189	CHST14	OMIM:601776
HP:0011458	Abdominal symptom	29940	DSE	ORPHA:2953
HP:0011458	Abdominal symptom	5119	CHMP1A	OMIM:614961
HP:0011458	Abdominal symptom	9968	MED12	ORPHA:93932
HP:0011458	Abdominal symptom	9968	MED12	OMIM:305450
HP:0011458	Abdominal symptom	9968	MED12	OMIM:300895
HP:0011458	Abdominal symptom	8398	PLA2G6	ORPHA:35069
HP:0011458	Abdominal symptom	546	ATRX	ORPHA:847
HP:0011458	Abdominal symptom	546	ATRX	OMIM:309580
HP:0011458	Abdominal symptom	546	ATRX	OMIM:301040
HP:0011458	Abdominal symptom	7276	TTR	OMIM:105210
HP:0011458	Abdominal symptom	7276	TTR	ORPHA:85447
HP:0011458	Abdominal symptom	5095	PCCA	OMIM:606054
HP:0011458	Abdominal symptom	5095	PCCA	ORPHA:35
HP:0011458	Abdominal symptom	5096	PCCB	OMIM:606054
HP:0011458	Abdominal symptom	5096	PCCB	ORPHA:35
HP:0011458	Abdominal symptom	5442	POLRMT	OMIM:619743
HP:0011458	Abdominal symptom	57178	ZMIZ1	OMIM:618659
HP:0011458	Abdominal symptom	28514	DLL1	ORPHA:93926
HP:0011458	Abdominal symptom	28514	DLL1	ORPHA:93924
HP:0011458	Abdominal symptom	28514	DLL1	ORPHA:93925
HP:0011458	Abdominal symptom	28514	DLL1	ORPHA:220386
HP:0011458	Abdominal symptom	2253	FGF8	ORPHA:93926
HP:0011458	Abdominal symptom	2253	FGF8	ORPHA:93924
HP:0011458	Abdominal symptom	2253	FGF8	ORPHA:93925
HP:0011458	Abdominal symptom	2253	FGF8	ORPHA:220386
HP:0011458	Abdominal symptom	6496	SIX3	ORPHA:93926
HP:0011458	Abdominal symptom	6496	SIX3	ORPHA:93924
HP:0011458	Abdominal symptom	6496	SIX3	ORPHA:93925
HP:0011458	Abdominal symptom	6496	SIX3	ORPHA:220386
HP:0011458	Abdominal symptom	6496	SIX3	OMIM:157170
HP:0011458	Abdominal symptom	7050	TGIF1	ORPHA:93926
HP:0011458	Abdominal symptom	7050	TGIF1	ORPHA:93924
HP:0011458	Abdominal symptom	7050	TGIF1	ORPHA:93925
HP:0011458	Abdominal symptom	7050	TGIF1	ORPHA:220386
HP:0011458	Abdominal symptom	4838	NODAL	ORPHA:93926
HP:0011458	Abdominal symptom	4838	NODAL	ORPHA:93924
HP:0011458	Abdominal symptom	4838	NODAL	ORPHA:93925
HP:0011458	Abdominal symptom	4838	NODAL	ORPHA:220386
HP:0011458	Abdominal symptom	6469	SHH	ORPHA:93926
HP:0011458	Abdominal symptom	6469	SHH	ORPHA:93924
HP:0011458	Abdominal symptom	6469	SHH	ORPHA:93925
HP:0011458	Abdominal symptom	6469	SHH	ORPHA:220386
HP:0011458	Abdominal symptom	7546	ZIC2	ORPHA:93926
HP:0011458	Abdominal symptom	7546	ZIC2	ORPHA:93924
HP:0011458	Abdominal symptom	7546	ZIC2	ORPHA:93925
HP:0011458	Abdominal symptom	7546	ZIC2	ORPHA:220386
HP:0011458	Abdominal symptom	6491	STIL	ORPHA:93926
HP:0011458	Abdominal symptom	6491	STIL	ORPHA:93924
HP:0011458	Abdominal symptom	6491	STIL	ORPHA:93925
HP:0011458	Abdominal symptom	6491	STIL	ORPHA:220386
HP:0011458	Abdominal symptom	2619	GAS1	ORPHA:93926
HP:0011458	Abdominal symptom	2619	GAS1	ORPHA:93924
HP:0011458	Abdominal symptom	2619	GAS1	ORPHA:93925
HP:0011458	Abdominal symptom	2619	GAS1	ORPHA:220386
HP:0011458	Abdominal symptom	84976	DISP1	ORPHA:93926
HP:0011458	Abdominal symptom	84976	DISP1	ORPHA:93924
HP:0011458	Abdominal symptom	84976	DISP1	ORPHA:93925
HP:0011458	Abdominal symptom	84976	DISP1	ORPHA:220386
HP:0011458	Abdominal symptom	2736	GLI2	ORPHA:93926
HP:0011458	Abdominal symptom	2736	GLI2	ORPHA:93924
HP:0011458	Abdominal symptom	2736	GLI2	ORPHA:93925
HP:0011458	Abdominal symptom	2736	GLI2	ORPHA:95494
HP:0011458	Abdominal symptom	2736	GLI2	ORPHA:220386
HP:0011458	Abdominal symptom	8928	FOXH1	ORPHA:93926
HP:0011458	Abdominal symptom	8928	FOXH1	ORPHA:93924
HP:0011458	Abdominal symptom	8928	FOXH1	ORPHA:93925
HP:0011458	Abdominal symptom	8928	FOXH1	ORPHA:220386
HP:0011458	Abdominal symptom	5727	PTCH1	ORPHA:93926
HP:0011458	Abdominal symptom	5727	PTCH1	ORPHA:93924
HP:0011458	Abdominal symptom	5727	PTCH1	ORPHA:93925
HP:0011458	Abdominal symptom	5727	PTCH1	ORPHA:220386
HP:0011458	Abdominal symptom	50937	CDON	ORPHA:93926
HP:0011458	Abdominal symptom	50937	CDON	ORPHA:93924
HP:0011458	Abdominal symptom	50937	CDON	ORPHA:93925
HP:0011458	Abdominal symptom	50937	CDON	ORPHA:220386
HP:0011458	Abdominal symptom	60495	HPSE2	ORPHA:2704
HP:0011458	Abdominal symptom	60495	HPSE2	OMIM:236730
HP:0011458	Abdominal symptom	2260	FGFR1	ORPHA:93924
HP:0011458	Abdominal symptom	2260	FGFR1	ORPHA:220386
HP:0011458	Abdominal symptom	2260	FGFR1	ORPHA:3157
HP:0011458	Abdominal symptom	23007	PLCH1	ORPHA:93925
HP:0011458	Abdominal symptom	10735	STAG2	ORPHA:93925
HP:0011458	Abdominal symptom	10735	STAG2	ORPHA:220386
HP:0011458	Abdominal symptom	25942	SIN3A	OMIM:613406
HP:0011458	Abdominal symptom	27235	COQ2	ORPHA:98933
HP:0011458	Abdominal symptom	27235	COQ2	ORPHA:227510
HP:0011458	Abdominal symptom	6792	CDKL5	OMIM:300672
HP:0011458	Abdominal symptom	330	BIRC3	ORPHA:52417
HP:0011458	Abdominal symptom	10892	MALT1	ORPHA:52417
HP:0011458	Abdominal symptom	27086	FOXP1	ORPHA:52417
HP:0011458	Abdominal symptom	27086	FOXP1	ORPHA:391372
HP:0011458	Abdominal symptom	3492	IGH	ORPHA:52417
HP:0011458	Abdominal symptom	8915	BCL10	ORPHA:52417
HP:0011458	Abdominal symptom	8493	PPM1D	OMIM:617450
HP:0011458	Abdominal symptom	23126	POGZ	OMIM:616364
HP:0011458	Abdominal symptom	57680	CHD8	OMIM:615032
HP:0011458	Abdominal symptom	23259	DDHD2	OMIM:615033
HP:0011458	Abdominal symptom	5626	PROP1	ORPHA:226307
HP:0011458	Abdominal symptom	5626	PROP1	ORPHA:95494
HP:0011458	Abdominal symptom	5626	PROP1	ORPHA:90695
HP:0011458	Abdominal symptom	89884	LHX4	ORPHA:226307
HP:0011458	Abdominal symptom	89884	LHX4	ORPHA:95494
HP:0011458	Abdominal symptom	8022	LHX3	ORPHA:226307
HP:0011458	Abdominal symptom	5449	POU1F1	ORPHA:226307
HP:0011458	Abdominal symptom	5449	POU1F1	ORPHA:95494
HP:0011458	Abdominal symptom	8820	HESX1	ORPHA:226307
HP:0011458	Abdominal symptom	8820	HESX1	ORPHA:95494
HP:0011458	Abdominal symptom	8820	HESX1	ORPHA:3157
HP:0011458	Abdominal symptom	27125	AFF4	OMIM:616368
HP:0011458	Abdominal symptom	27125	AFF4	ORPHA:444077
HP:0011458	Abdominal symptom	6023	RMRP	OMIM:250250
HP:0011458	Abdominal symptom	6804	STX1A	ORPHA:904
HP:0011458	Abdominal symptom	7461	CLIP2	ORPHA:904
HP:0011458	Abdominal symptom	84277	DNAJC30	ORPHA:904
HP:0011458	Abdominal symptom	8468	FKBP6	ORPHA:904
HP:0011458	Abdominal symptom	5982	RFC2	ORPHA:904
HP:0011458	Abdominal symptom	2969	GTF2I	ORPHA:904
HP:0011458	Abdominal symptom	3984	LIMK1	ORPHA:904
HP:0011458	Abdominal symptom	9569	GTF2IRD1	ORPHA:904
HP:0011458	Abdominal symptom	155382	VPS37D	ORPHA:904
HP:0011458	Abdominal symptom	155368	METTL27	ORPHA:904
HP:0011458	Abdominal symptom	114049	BUD23	ORPHA:904
HP:0011458	Abdominal symptom	7458	EIF4H	ORPHA:904
HP:0011458	Abdominal symptom	84163	GTF2IRD2	ORPHA:904
HP:0011458	Abdominal symptom	9275	BCL7B	ORPHA:904
HP:0011458	Abdominal symptom	26608	TBL2	ORPHA:904
HP:0011458	Abdominal symptom	653361	NCF1	ORPHA:904
HP:0011458	Abdominal symptom	135886	TMEM270	ORPHA:904
HP:0011458	Abdominal symptom	51085	MLXIPL	ORPHA:904
HP:0011458	Abdominal symptom	51085	MLXIPL	OMIM:194050
HP:0011458	Abdominal symptom	9031	BAZ1B	ORPHA:904
HP:0011458	Abdominal symptom	2006	ELN	ORPHA:904
HP:0011458	Abdominal symptom	2006	ELN	OMIM:194050
HP:0011458	Abdominal symptom	285175	UNC80	OMIM:616801
HP:0011458	Abdominal symptom	285175	UNC80	ORPHA:371364
HP:0011458	Abdominal symptom	5590	PRKCZ	ORPHA:1606
HP:0011458	Abdominal symptom	2563	GABRD	ORPHA:1606
HP:0011458	Abdominal symptom	23013	SPEN	ORPHA:1606
HP:0011458	Abdominal symptom	23013	SPEN	OMIM:619312
HP:0011458	Abdominal symptom	8510	MMP23B	ORPHA:1606
HP:0011458	Abdominal symptom	7798	LUZP1	ORPHA:1606
HP:0011458	Abdominal symptom	6497	SKI	ORPHA:1606
HP:0011458	Abdominal symptom	10630	PDPN	ORPHA:1606
HP:0011458	Abdominal symptom	3339	HSPG2	ORPHA:1606
HP:0011458	Abdominal symptom	10277	UBE4B	ORPHA:1606
HP:0011458	Abdominal symptom	8514	KCNAB2	ORPHA:1606
HP:0011458	Abdominal symptom	473	RERE	ORPHA:1606
HP:0011458	Abdominal symptom	63976	PRDM16	ORPHA:1606
HP:0011458	Abdominal symptom	54897	CASZ1	ORPHA:1606
HP:0011458	Abdominal symptom	493856	CISD2	ORPHA:3463
HP:0011458	Abdominal symptom	7466	WFS1	ORPHA:3463
HP:0011458	Abdominal symptom	6638	SNRPN	OMIM:105830
HP:0011458	Abdominal symptom	7337	UBE3A	OMIM:105830
HP:0011458	Abdominal symptom	7337	UBE3A	ORPHA:98794
HP:0011458	Abdominal symptom	100134444	KCNJ18	ORPHA:79102
HP:0011458	Abdominal symptom	2556	GABRA3	ORPHA:79102
HP:0011458	Abdominal symptom	779	CACNA1S	ORPHA:79102
HP:0011458	Abdominal symptom	4952	OCRL	OMIM:309000
HP:0011458	Abdominal symptom	4952	OCRL	ORPHA:534
HP:0011458	Abdominal symptom	4567	MT-TL1	ORPHA:225
HP:0011458	Abdominal symptom	4567	MT-TL1	ORPHA:550
HP:0011458	Abdominal symptom	4556	MT-TE	ORPHA:225
HP:0011458	Abdominal symptom	4566	MT-TK	ORPHA:225
HP:0011458	Abdominal symptom	6609	SMPD1	OMIM:257200
HP:0011458	Abdominal symptom	4210	MEFV	ORPHA:342
HP:0011458	Abdominal symptom	554	AVPR2	ORPHA:223
HP:0011458	Abdominal symptom	554	AVPR2	OMIM:304800
HP:0011458	Abdominal symptom	359	AQP2	ORPHA:223
HP:0011458	Abdominal symptom	359	AQP2	OMIM:125800
HP:0011458	Abdominal symptom	3170	FOXA2	ORPHA:95494
HP:0011458	Abdominal symptom	5015	OTX2	ORPHA:95494
HP:0011458	Abdominal symptom	5015	OTX2	ORPHA:3157
HP:0011458	Abdominal symptom	6942	TCF20	OMIM:618430
HP:0011458	Abdominal symptom	4665	NAB2	ORPHA:2126
HP:0011458	Abdominal symptom	6778	STAT6	ORPHA:2126
HP:0011458	Abdominal symptom	50506	DUOX2	ORPHA:226316
HP:0011458	Abdominal symptom	50506	DUOX2	ORPHA:95716
HP:0011458	Abdominal symptom	9409	PEX16	OMIM:614877
HP:0011458	Abdominal symptom	6925	TCF4	OMIM:610954
HP:0011458	Abdominal symptom	6925	TCF4	ORPHA:2896
HP:0011458	Abdominal symptom	51322	WAC	ORPHA:284169
HP:0011458	Abdominal symptom	51322	WAC	OMIM:616708
HP:0011458	Abdominal symptom	51322	WAC	ORPHA:466950
HP:0011458	Abdominal symptom	259232	NALCN	OMIM:616266
HP:0011458	Abdominal symptom	259232	NALCN	OMIM:615419
HP:0011458	Abdominal symptom	259232	NALCN	ORPHA:371364
HP:0011458	Abdominal symptom	2678	GGT1	OMIM:231950
HP:0011458	Abdominal symptom	6528	SLC5A5	OMIM:274400
HP:0011458	Abdominal symptom	6528	SLC5A5	ORPHA:95716
HP:0011458	Abdominal symptom	3756	KCNH1	OMIM:611816
HP:0011458	Abdominal symptom	3756	KCNH1	ORPHA:420561
HP:0011458	Abdominal symptom	84978	FRMD5	OMIM:620094
HP:0011458	Abdominal symptom	81839	VANGL1	OMIM:600145
HP:0011458	Abdominal symptom	56246	MRAP	ORPHA:361
HP:0011458	Abdominal symptom	6770	STAR	ORPHA:361
HP:0011458	Abdominal symptom	4158	MC2R	ORPHA:361
HP:0011458	Abdominal symptom	23530	NNT	ORPHA:361
HP:0011458	Abdominal symptom	10587	TXNRD2	ORPHA:361
HP:0011458	Abdominal symptom	6595	SMARCA2	OMIM:601358
HP:0011458	Abdominal symptom	55023	PHIP	ORPHA:589905
HP:0011458	Abdominal symptom	8621	CDK13	OMIM:617360
HP:0011458	Abdominal symptom	51142	CHCHD2	OMIM:616710
HP:0011458	Abdominal symptom	284119	CAVIN1	OMIM:613327
HP:0011458	Abdominal symptom	57165	GJC2	OMIM:613206
HP:0011458	Abdominal symptom	4204	MECP2	OMIM:312750
HP:0011458	Abdominal symptom	196528	ARID2	OMIM:617808
HP:0011458	Abdominal symptom	4001	LMNB1	ORPHA:99027
HP:0011458	Abdominal symptom	4001	LMNB1	OMIM:169500
HP:0011458	Abdominal symptom	1188	CLCNKB	ORPHA:358
HP:0011458	Abdominal symptom	6559	SLC12A3	ORPHA:358
HP:0011458	Abdominal symptom	6559	SLC12A3	OMIM:263800
HP:0011458	Abdominal symptom	846	CASR	OMIM:239200
HP:0011458	Abdominal symptom	6658	SOX3	ORPHA:90695
HP:0011458	Abdominal symptom	6658	SOX3	ORPHA:3157
HP:0011458	Abdominal symptom	8518	ELP1	OMIM:223900
HP:0011458	Abdominal symptom	291	SLC25A4	ORPHA:254892
HP:0011458	Abdominal symptom	56652	TWNK	ORPHA:254892
HP:0011458	Abdominal symptom	4558	MT-TF	ORPHA:550
HP:0011458	Abdominal symptom	4572	MT-TQ	ORPHA:550
HP:0011458	Abdominal symptom	4512	MT-CO1	ORPHA:550
HP:0011458	Abdominal symptom	4513	MT-CO2	ORPHA:550
HP:0011458	Abdominal symptom	4514	MT-CO3	ORPHA:550
HP:0011458	Abdominal symptom	4578	MT-TW	ORPHA:550
HP:0011458	Abdominal symptom	4540	MT-ND5	ORPHA:550
HP:0011458	Abdominal symptom	4541	MT-ND6	ORPHA:550
HP:0011458	Abdominal symptom	4535	MT-ND1	ORPHA:550
HP:0011458	Abdominal symptom	4538	MT-ND4	ORPHA:550
HP:0011458	Abdominal symptom	4574	MT-TS1	ORPHA:550
HP:0011458	Abdominal symptom	4575	MT-TS2	ORPHA:550
HP:0011458	Abdominal symptom	4564	MT-TH	ORPHA:550
HP:0011458	Abdominal symptom	1859	DYRK1A	ORPHA:268261
HP:0011458	Abdominal symptom	2290	FOXG1	OMIM:613454
HP:0011458	Abdominal symptom	23394	ADNP	OMIM:615873
HP:0011458	Abdominal symptom	4803	NGF	OMIM:608654
HP:0011458	Abdominal symptom	9256	TSPOAP1	ORPHA:101150
HP:0011458	Abdominal symptom	7054	TH	ORPHA:101150
HP:0011458	Abdominal symptom	23028	KDM1A	OMIM:616728
HP:0011458	Abdominal symptom	2258	FGF13	OMIM:301058
HP:0011458	Abdominal symptom	1387	CREBBP	ORPHA:353281
HP:0011458	Abdominal symptom	1387	CREBBP	OMIM:180849
HP:0011458	Abdominal symptom	1387	CREBBP	ORPHA:353277
HP:0011458	Abdominal symptom	1294	COL7A1	OMIM:226600
HP:0011458	Abdominal symptom	1294	COL7A1	ORPHA:89842
HP:0011458	Abdominal symptom	4312	MMP1	OMIM:226600
HP:0011458	Abdominal symptom	7200	TRH	OMIM:275120
HP:0011458	Abdominal symptom	2033	EP300	ORPHA:353284
HP:0011458	Abdominal symptom	2033	EP300	OMIM:180849
HP:0011458	Abdominal symptom	1644	DDC	OMIM:608643
HP:0011458	Abdominal symptom	7132	TNFRSF1A	ORPHA:32960
HP:0011458	Abdominal symptom	4286	MITF	ORPHA:897
HP:0011458	Abdominal symptom	6663	SOX10	ORPHA:897
HP:0011458	Abdominal symptom	6663	SOX10	ORPHA:163746
HP:0011458	Abdominal symptom	4297	KMT2A	OMIM:605130
HP:0011458	Abdominal symptom	4948	OCA2	ORPHA:98794
HP:0011458	Abdominal symptom	1725	DHPS	OMIM:618480
HP:0011458	Abdominal symptom	405753	DUOXA2	ORPHA:95716
HP:0011458	Abdominal symptom	7038	TG	ORPHA:95716
HP:0011458	Abdominal symptom	7173	TPO	ORPHA:95716
HP:0011458	Abdominal symptom	389434	IYD	ORPHA:95716
HP:0011458	Abdominal symptom	11280	SCN11A	ORPHA:46348
HP:0011458	Abdominal symptom	11280	SCN11A	OMIM:615548
HP:0011458	Abdominal symptom	6336	SCN10A	ORPHA:46348
HP:0011458	Abdominal symptom	9378	NRXN1	OMIM:614325
HP:0011458	Abdominal symptom	1312	COMT	ORPHA:567
HP:0011458	Abdominal symptom	221037	JMJD1C	ORPHA:567
HP:0011458	Abdominal symptom	2812	GP1BB	ORPHA:567
HP:0011458	Abdominal symptom	6239	RREB1	ORPHA:567
HP:0011458	Abdominal symptom	6899	TBX1	ORPHA:567
HP:0011458	Abdominal symptom	7290	HIRA	ORPHA:567
HP:0011458	Abdominal symptom	9632	SEC24C	ORPHA:567
HP:0011458	Abdominal symptom	7353	UFD1	ORPHA:567
HP:0011458	Abdominal symptom	421	ARVCF	ORPHA:567
HP:0011458	Abdominal symptom	7703	PCGF2	OMIM:618371
HP:0011458	Abdominal symptom	6557	SLC12A1	OMIM:601678
HP:0011458	Abdominal symptom	23111	SPART	ORPHA:101000
HP:0011458	Abdominal symptom	6907	TBL1X	OMIM:301033
HP:0011458	Abdominal symptom	1760	DMPK	ORPHA:589821
HP:0011458	Abdominal symptom	54681	P4HTM	OMIM:618493
HP:0011458	Abdominal symptom	3758	KCNJ1	OMIM:241200
HP:0011458	Abdominal symptom	1822	ATN1	OMIM:618494
HP:0011458	Abdominal symptom	7067	THRA	OMIM:614450
HP:0011458	Abdominal symptom	6304	SATB1	OMIM:619229
HP:0011458	Abdominal symptom	54551	MAGEL2	OMIM:615547
HP:0011458	Abdominal symptom	5977	DPF2	OMIM:618027
HP:0011458	Abdominal symptom	94005	PIGS	OMIM:618143
HP:0011458	Abdominal symptom	6711	SPTBN1	OMIM:619475
HP:0011458	Abdominal symptom	1497	CTNS	ORPHA:411629
HP:0011458	Abdominal symptom	2887	GRB10	ORPHA:96182
HP:0011458	Abdominal symptom	1457	CSNK2A1	OMIM:617062
HP:0011458	Abdominal symptom	2222	FDFT1	OMIM:618156
HP:0011458	Abdominal symptom	6872	TAF1	OMIM:300966
HP:0011458	Abdominal symptom	1674	DES	OMIM:601419
HP:0011458	Abdominal symptom	57688	ZSWIM6	OMIM:617865
HP:0011458	Abdominal symptom	55164	SHQ1	OMIM:619922
HP:0011458	Abdominal symptom	6299	SALL1	ORPHA:857
HP:0011458	Abdominal symptom	51339	DACT1	ORPHA:857
HP:0011458	Abdominal symptom	1759	DNM1	OMIM:620352
HP:0011458	Abdominal symptom	23387	SIK3	OMIM:618162
HP:0011458	Abdominal symptom	1650	DDOST	ORPHA:300536
HP:0011458	Abdominal symptom	6904	TBCD	OMIM:617193
HP:0011458	Abdominal symptom	5156	PDGFRA	ORPHA:44890
HP:0011458	Abdominal symptom	8243	SMC1A	ORPHA:220386
HP:0011458	Abdominal symptom	738	VPS51	OMIM:618606
HP:0011458	Abdominal symptom	9757	KMT2B	OMIM:619934
HP:0011458	Abdominal symptom	6340	SCNN1G	ORPHA:526
HP:0011458	Abdominal symptom	6338	SCNN1B	ORPHA:526
HP:0011458	Abdominal symptom	6337	SCNN1A	ORPHA:526
HP:0011458	Abdominal symptom	10225	CD96	ORPHA:1308
HP:0011458	Abdominal symptom	11011	TLK2	OMIM:618050
HP:0011458	Abdominal symptom	2902	GRIN1	OMIM:614254
HP:0011458	Abdominal symptom	2747	GLUD2	OMIM:168600
HP:0011458	Abdominal symptom	126	ADH1C	OMIM:168600
HP:0011458	Abdominal symptom	4137	MAPT	OMIM:168600
HP:0011458	Abdominal symptom	2629	GBA1	OMIM:168600
HP:0011458	Abdominal symptom	4929	NR4A2	OMIM:168600
HP:0011458	Abdominal symptom	6908	TBP	OMIM:168600
HP:0011458	Abdominal symptom	4576	MT-TT	OMIM:168600
HP:0011458	Abdominal symptom	9627	SNCAIP	OMIM:168600
HP:0011458	Abdominal symptom	6311	ATXN2	OMIM:168600
HP:0011458	Abdominal symptom	6315	ATXN8OS	OMIM:168600
HP:0011458	Abdominal symptom	55294	FBXW7	OMIM:620012
HP:0011458	Abdominal symptom	128674	PROKR2	ORPHA:3157
HP:0011458	Abdominal symptom	6657	SOX2	ORPHA:3157
HP:0011458	Abdominal symptom	9915	ARNT2	ORPHA:3157
HP:0011458	Abdominal symptom	8974	P4HA2	ORPHA:397
HP:0011458	Abdominal symptom	861	RUNX1	ORPHA:98850
HP:0011458	Abdominal symptom	90268	OTULIN	OMIM:617099
HP:0011458	Abdominal symptom	144811	LACC1	ORPHA:85414
HP:0011458	Abdominal symptom	4282	MIF	ORPHA:85414
HP:0011458	Abdominal symptom	3569	IL6	ORPHA:85414
HP:0011458	Abdominal symptom	3569	IL6	OMIM:266600
HP:0011458	Abdominal symptom	30061	SLC40A1	ORPHA:139491
HP:0011458	Abdominal symptom	2539	G6PD	OMIM:300908
HP:0011458	Abdominal symptom	4598	MVK	OMIM:260920
HP:0011458	Abdominal symptom	4598	MVK	ORPHA:343
HP:0011458	Abdominal symptom	5009	OTC	OMIM:311250
HP:0011458	Abdominal symptom	26873	OPLAH	OMIM:260005
HP:0011458	Abdominal symptom	4233	MET	ORPHA:33402
HP:0011458	Abdominal symptom	10686	CLDN16	OMIM:248250
HP:0011458	Abdominal symptom	2642	GCGR	OMIM:619290
HP:0011458	Abdominal symptom	2642	GCGR	ORPHA:438274
HP:0011458	Abdominal symptom	2859	GPR35	ORPHA:171
HP:0011458	Abdominal symptom	10507	SEMA4D	ORPHA:171
HP:0011458	Abdominal symptom	4485	MST1	ORPHA:171
HP:0011458	Abdominal symptom	4352	MPL	ORPHA:729
HP:0011458	Abdominal symptom	3717	JAK2	ORPHA:729
HP:0011458	Abdominal symptom	3717	JAK2	ORPHA:131
HP:0011458	Abdominal symptom	6794	STK11	OMIM:175200
HP:0011458	Abdominal symptom	6794	STK11	ORPHA:2869
HP:0011458	Abdominal symptom	84133	ZNRF3	ORPHA:1501
HP:0011458	Abdominal symptom	5573	PRKAR1A	ORPHA:1501
HP:0011458	Abdominal symptom	5573	PRKAR1A	ORPHA:520
HP:0011458	Abdominal symptom	2035	EPB41	ORPHA:288
HP:0011458	Abdominal symptom	2995	GYPC	ORPHA:288
HP:0011458	Abdominal symptom	64127	NOD2	OMIM:617321
HP:0011458	Abdominal symptom	64127	NOD2	OMIM:266600
HP:0011458	Abdominal symptom	2984	GUCY2C	OMIM:614616
HP:0011458	Abdominal symptom	1244	ABCC2	ORPHA:234
HP:0011458	Abdominal symptom	22900	CARD8	OMIM:619079
HP:0011458	Abdominal symptom	51604	PIGT	OMIM:615399
HP:0011458	Abdominal symptom	2321	FLT1	ORPHA:275555
HP:0011458	Abdominal symptom	219736	STOX1	ORPHA:275555
HP:0011458	Abdominal symptom	10699	CORIN	ORPHA:275555
HP:0011458	Abdominal symptom	1080	CFTR	OMIM:167800
HP:0011458	Abdominal symptom	1080	CFTR	ORPHA:676
HP:0011458	Abdominal symptom	5645	PRSS2	OMIM:167800
HP:0011458	Abdominal symptom	5645	PRSS2	ORPHA:676
HP:0011458	Abdominal symptom	5644	PRSS1	OMIM:167800
HP:0011458	Abdominal symptom	5644	PRSS1	ORPHA:676
HP:0011458	Abdominal symptom	5205	ATP8B1	ORPHA:69665
HP:0011458	Abdominal symptom	8647	ABCB11	ORPHA:69665
HP:0011458	Abdominal symptom	9971	NR1H4	ORPHA:69665
HP:0011458	Abdominal symptom	1649	DDIT3	ORPHA:99967
HP:0011458	Abdominal symptom	3662	IRF4	ORPHA:3452
HP:0011458	Abdominal symptom	19	ABCA1	ORPHA:31150
HP:0011458	Abdominal symptom	7234	TRU-TCA1-1	OMIM:620198
HP:0011458	Abdominal symptom	811	CALR	ORPHA:131
HP:0011458	Abdominal symptom	2153	F5	ORPHA:131
HP:0011458	Abdominal symptom	5885	RAD21	OMIM:611376
HP:0011458	Abdominal symptom	654	BMP6	ORPHA:465508
HP:0011458	Abdominal symptom	9780	PIEZO1	ORPHA:3202
HP:0011458	Abdominal symptom	3783	KCNN4	ORPHA:3202
HP:0011458	Abdominal symptom	64241	ABCG8	OMIM:210250
HP:0011458	Abdominal symptom	10312	TCIRG1	ORPHA:486
HP:0011458	Abdominal symptom	1991	ELANE	ORPHA:486
HP:0011458	Abdominal symptom	1991	ELANE	ORPHA:2686
HP:0011458	Abdominal symptom	2672	GFI1	ORPHA:486
HP:0011458	Abdominal symptom	6729	SRP54	ORPHA:486
HP:0011458	Abdominal symptom	2000	ELF4	OMIM:301074
HP:0011458	Abdominal symptom	165918	RNF168	ORPHA:420741
HP:0011458	Abdominal symptom	950	SCARB2	ORPHA:77259
HP:0011458	Abdominal symptom	4175	MCM6	OMIM:223100
HP:0011458	Abdominal symptom	2767	GNA11	ORPHA:428
HP:0011458	Abdominal symptom	2057	EPOR	ORPHA:90042
HP:0011458	Abdominal symptom	53335	BCL11A	ORPHA:251380
HP:0011458	Abdominal symptom	10661	KLF1	ORPHA:251380
HP:0011458	Abdominal symptom	3047	HBG1	ORPHA:251380
HP:0011458	Abdominal symptom	3048	HBG2	ORPHA:251380
HP:0011458	Abdominal symptom	5774	PTPN3	ORPHA:70567
HP:0011458	Abdominal symptom	7248	TSC1	ORPHA:538
HP:0011458	Abdominal symptom	7249	TSC2	ORPHA:538
HP:0011458	Abdominal symptom	5978	REST	ORPHA:654
HP:0011458	Abdominal symptom	129563	DIS3L2	ORPHA:654
HP:0011458	Abdominal symptom	9319	TRIP13	ORPHA:654
HP:0011458	Abdominal symptom	10155	TRIM28	ORPHA:654
HP:0011458	Abdominal symptom	11281	POU6F2	ORPHA:654
HP:0011458	Abdominal symptom	2719	GPC3	ORPHA:654
HP:0011458	Abdominal symptom	283120	H19	ORPHA:654
HP:0011458	Abdominal symptom	23607	CD2AP	ORPHA:656
HP:0011458	Abdominal symptom	9688	NUP93	ORPHA:656
HP:0011458	Abdominal symptom	4643	MYO1E	ORPHA:656
HP:0011458	Abdominal symptom	64423	INF2	ORPHA:656
HP:0011458	Abdominal symptom	26130	GAPVD1	ORPHA:656
HP:0011458	Abdominal symptom	57122	NUP107	ORPHA:656
HP:0011458	Abdominal symptom	51479	ANKFY1	ORPHA:656
HP:0011458	Abdominal symptom	54443	ANLN	ORPHA:656
HP:0011458	Abdominal symptom	5800	PTPRO	ORPHA:656
HP:0011458	Abdominal symptom	286204	CRB2	ORPHA:656
HP:0011458	Abdominal symptom	23165	NUP205	ORPHA:656
HP:0011458	Abdominal symptom	2013	EMP2	ORPHA:656
HP:0011458	Abdominal symptom	79023	NUP37	ORPHA:656
HP:0011458	Abdominal symptom	51196	PLCE1	ORPHA:656
HP:0011458	Abdominal symptom	79902	NUP85	ORPHA:656
HP:0011458	Abdominal symptom	1285	COL4A3	ORPHA:656
HP:0011458	Abdominal symptom	396	ARHGDIA	ORPHA:656
HP:0011458	Abdominal symptom	79934	COQ8B	ORPHA:656
HP:0011458	Abdominal symptom	23279	NUP160	ORPHA:656
HP:0011458	Abdominal symptom	9863	MAGI2	ORPHA:656
HP:0011458	Abdominal symptom	81	ACTN4	ORPHA:656
HP:0011458	Abdominal symptom	7225	TRPC6	ORPHA:656
HP:0011458	Abdominal symptom	8542	APOL1	ORPHA:656
HP:0011458	Abdominal symptom	54885	TBC1D8B	ORPHA:656
HP:0011458	Abdominal symptom	7827	NPHS2	ORPHA:656
HP:0011458	Abdominal symptom	83478	ARHGAP24	ORPHA:656
HP:0011458	Abdominal symptom	23500	DAAM2	ORPHA:656
HP:0011458	Abdominal symptom	55746	NUP133	ORPHA:656
HP:0011458	Abdominal symptom	10616	RBCK1	OMIM:615895
HP:0011458	Abdominal symptom	1357	CPA1	ORPHA:676
HP:0011458	Abdominal symptom	650	BMP2	OMIM:235200
HP:0011458	Abdominal symptom	54795	TRPM4	ORPHA:871
HP:0011458	Abdominal symptom	6324	SCN1B	ORPHA:871
HP:0011458	Abdominal symptom	1053	CEBPE	OMIM:260570
HP:0011458	Abdominal symptom	64840	PORCN	ORPHA:2092
HP:0011458	Abdominal symptom	3257	HPS1	OMIM:203300
HP:0011458	Abdominal symptom	1056	CEL	OMIM:609812
HP:0011458	Abdominal symptom	64711	HS3ST6	OMIM:619367
HP:0011458	Abdominal symptom	91662	NLRP12	OMIM:611762
HP:0011458	Abdominal symptom	5294	PIK3CG	OMIM:619802
HP:0011458	Abdominal symptom	595	CCND1	ORPHA:892
HP:0011458	Abdominal symptom	6850	SYK	OMIM:619381
HP:0011458	Abdominal symptom	6774	STAT3	ORPHA:520
HP:0011458	Abdominal symptom	5371	PML	ORPHA:520
HP:0011458	Abdominal symptom	5914	RARA	ORPHA:520
HP:0011458	Abdominal symptom	359948	IRF2BP2	ORPHA:520
HP:0011458	Abdominal symptom	81608	FIP1L1	ORPHA:520
HP:0011458	Abdominal symptom	4869	NPM1	ORPHA:520
HP:0011458	Abdominal symptom	54880	BCOR	ORPHA:520
HP:0011458	Abdominal symptom	64859	NABP1	ORPHA:520
HP:0011458	Abdominal symptom	6777	STAT5B	ORPHA:520
HP:0011458	Abdominal symptom	4926	NUMA1	ORPHA:520
HP:0011458	Abdominal symptom	7704	ZBTB16	ORPHA:520
HP:0011458	Abdominal symptom	1604	CD55	OMIM:226300
HP:0011458	Abdominal symptom	8737	RIPK1	OMIM:618852
HP:0011458	Abdominal symptom	115286	SLC25A26	OMIM:616794
HP:0011458	Abdominal symptom	4689	NCF4	OMIM:613960
HP:0011458	Abdominal symptom	7388	UQCRH	OMIM:620137
HP:0011458	Abdominal symptom	2693	GHSR	ORPHA:314811
HP:0011458	Abdominal symptom	3689	ITGB2	OMIM:116920
HP:0011458	Abdominal symptom	6555	SLC10A2	OMIM:613291
HP:0011458	Abdominal symptom	695	BTK	OMIM:300755
HP:0011458	Abdominal symptom	695	BTK	ORPHA:47
HP:0011458	Abdominal symptom	3551	IKBKB	OMIM:615592
HP:0011458	Abdominal symptom	987	LRBA	OMIM:614700
HP:0011458	Abdominal symptom	5293	PIK3CD	OMIM:619281
HP:0011458	Abdominal symptom	55630	SLC39A4	ORPHA:37
HP:0011458	Abdominal symptom	3718	JAK3	OMIM:600802
HP:0011458	Abdominal symptom	3718	JAK3	ORPHA:35078
HP:0011458	Abdominal symptom	3561	IL2RG	OMIM:300400
HP:0011458	Abdominal symptom	3561	IL2RG	ORPHA:39041
HP:0011458	Abdominal symptom	23149	FCHO1	OMIM:619164
HP:0011458	Abdominal symptom	10525	HYOU1	OMIM:233600
HP:0011458	Abdominal symptom	4792	NFKBIA	OMIM:612132
HP:0011458	Abdominal symptom	841	CASP8	OMIM:607271
HP:0011458	Abdominal symptom	472	ATM	OMIM:208900
HP:0011458	Abdominal symptom	7037	TFRC	OMIM:616740
HP:0011458	Abdominal symptom	537	ATP6AP1	OMIM:300972
HP:0011458	Abdominal symptom	84876	ORAI1	OMIM:612782
HP:0011458	Abdominal symptom	1777	DNASE2	OMIM:619858
HP:0011458	Abdominal symptom	3423	IDS	ORPHA:217085
HP:0011458	Abdominal symptom	3423	IDS	ORPHA:217093
HP:0011458	Abdominal symptom	26007	TKFC	OMIM:618805
HP:0011458	Abdominal symptom	6499	SKIC2	OMIM:614602
HP:0011458	Abdominal symptom	3572	IL6ST	OMIM:618523
HP:0011458	Abdominal symptom	4547	MTTP	ORPHA:14
HP:0011458	Abdominal symptom	2068	ERCC2	OMIM:601675
HP:0011458	Abdominal symptom	5528	PPP2R5D	OMIM:616355
HP:0011458	Abdominal symptom	5528	PPP2R5D	ORPHA:457279
HP:0011458	Abdominal symptom	146206	CARMIL2	OMIM:618131
HP:0011458	Abdominal symptom	57511	COG6	OMIM:614576
HP:0011458	Abdominal symptom	1380	CR2	OMIM:614699
HP:0011458	Abdominal symptom	3981	LIG4	ORPHA:235
HP:0011458	Abdominal symptom	3981	LIG4	ORPHA:39041
HP:0011458	Abdominal symptom	54888	NSUN2	ORPHA:235
HP:0011458	Abdominal symptom	7454	WAS	OMIM:301000
HP:0011458	Abdominal symptom	7454	WAS	ORPHA:906
HP:0011458	Abdominal symptom	54809	SAMD9	OMIM:617053
HP:0011458	Abdominal symptom	7737	RNF113A	OMIM:300953
HP:0011458	Abdominal symptom	1593	CYP27A1	ORPHA:909
HP:0011458	Abdominal symptom	5295	PIK3R1	OMIM:616005
HP:0011458	Abdominal symptom	3514	IGKC	OMIM:614102
HP:0011458	Abdominal symptom	7456	WIPF1	ORPHA:906
HP:0011458	Abdominal symptom	5896	RAG1	ORPHA:39041
HP:0011458	Abdominal symptom	5897	RAG2	ORPHA:39041
HP:0011458	Abdominal symptom	64421	DCLRE1C	ORPHA:39041
HP:0011458	Abdominal symptom	64421	DCLRE1C	OMIM:602450
HP:0011458	Abdominal symptom	100	ADA	ORPHA:39041
HP:0011458	Abdominal symptom	100	ADA	OMIM:102700
HP:0011458	Abdominal symptom	3575	IL7R	ORPHA:39041
HP:0011458	Abdominal symptom	3575	IL7R	ORPHA:169154
HP:0011458	Abdominal symptom	55027	HEATR3	OMIM:620072
HP:0011458	Abdominal symptom	56052	ALG1	ORPHA:79327
HP:0011458	Abdominal symptom	3507	IGHM	OMIM:601495
HP:0011458	Abdominal symptom	123264	SLC51B	OMIM:619481
HP:0011458	Abdominal symptom	8567	MADD	OMIM:619004
HP:0011458	Abdominal symptom	8567	MADD	OMIM:619005
HP:0011458	Abdominal symptom	60468	BACH2	OMIM:618394
HP:0011458	Abdominal symptom	200931	SLC51A	OMIM:619484
HP:0011458	Abdominal symptom	11311	VPS45	OMIM:615285
HP:0011458	Abdominal symptom	83737	ITCH	OMIM:613385
HP:0011458	Abdominal symptom	50615	IL21R	OMIM:615207
HP:0011458	Abdominal symptom	917	CD3G	OMIM:615607
HP:0011458	Abdominal symptom	55343	SLC35C1	ORPHA:99843
HP:0011458	Abdominal symptom	5966	REL	OMIM:619652
HP:0011458	Abdominal symptom	5317	PKP1	ORPHA:158668
HP:0011458	Abdominal symptom	5236	PGM1	OMIM:614921
HP:0011458	Abdominal symptom	84433	CARD11	OMIM:617638
HP:0011458	Abdominal symptom	4683	NBN	ORPHA:647
HP:0011458	Abdominal symptom	915	CD3D	OMIM:615617
HP:0011458	Abdominal symptom	721	C4B	OMIM:614379
HP:0011458	Abdominal symptom	1794	DOCK2	OMIM:616433
HP:0011458	Abdominal symptom	6929	TCF3	OMIM:619824
HP:0011458	Abdominal symptom	7535	ZAP70	ORPHA:911
HP:0011458	Abdominal symptom	3559	IL2RA	OMIM:606367
HP:0011458	Abdominal symptom	7360	UGP2	OMIM:618744
HP:0011458	Abdominal symptom	5830	PEX5	OMIM:214110
HP:0011458	Abdominal symptom	10102	TSFM	OMIM:610505
HP:0011458	Abdominal symptom	7681	MKRN3	OMIM:176270
HP:0011458	Abdominal symptom	3653	IPW	OMIM:176270
HP:0011458	Abdominal symptom	791114	PWRN1	OMIM:176270
HP:0011458	Abdominal symptom	100033413	SNORD116-1	OMIM:176270
HP:0011458	Abdominal symptom	8924	HERC2	OMIM:176270
HP:0011458	Abdominal symptom	145624	PWAR1	OMIM:176270
HP:0011458	Abdominal symptom	23742	NPAP1	OMIM:176270
HP:0011458	Abdominal symptom	338433	SNORD115-1	OMIM:176270
HP:0011458	Abdominal symptom	7314	UBB	ORPHA:99772
HP:0011458	Abdominal symptom	57822	GRHL3	ORPHA:99772
HP:0011458	Abdominal symptom	4487	MSX1	ORPHA:199306
HP:0011458	Abdominal symptom	5818	NECTIN1	ORPHA:199306
HP:0011458	Abdominal symptom	1739	DLG1	ORPHA:199306
HP:0011458	Abdominal symptom	652	BMP4	ORPHA:199306
HP:0011458	Abdominal symptom	8626	TP63	ORPHA:199306
HP:0011458	Abdominal symptom	999	CDH1	ORPHA:199306
HP:0011458	Abdominal symptom	3664	IRF6	ORPHA:199306
HP:0011458	Abdominal symptom	9411	ARHGAP29	ORPHA:199306
HP:0011458	Abdominal symptom	1748	DLX4	ORPHA:199306
HP:0011458	Abdominal symptom	318	NUDT2	OMIM:619844
HP:0011458	Abdominal symptom	91647	ATPAF2	OMIM:604273
HP:0011458	Abdominal symptom	3265	HRAS	ORPHA:3071
HP:0011458	Abdominal symptom	3265	HRAS	OMIM:218040
HP:0011458	Abdominal symptom	25930	PTPN23	OMIM:618890
HP:0011458	Abdominal symptom	55065	SLC52A1	OMIM:615026
HP:0011458	Abdominal symptom	5193	PEX12	OMIM:614859
HP:0011458	Abdominal symptom	7874	USP7	ORPHA:500055
HP:0011458	Abdominal symptom	9453	GGPS1	OMIM:619518
HP:0011458	Abdominal symptom	5828	PEX2	OMIM:614866
HP:0011458	Abdominal symptom	3032	HADHB	ORPHA:746
HP:0011458	Abdominal symptom	4714	NDUFB8	ORPHA:70474
HP:0011458	Abdominal symptom	6834	SURF1	ORPHA:70474
HP:0011458	Abdominal symptom	7385	UQCRC2	OMIM:615160
HP:0011458	Abdominal symptom	1806	DPYD	ORPHA:1675
HP:0011458	Abdominal symptom	8292	COLQ	ORPHA:98915
HP:0011458	Abdominal symptom	10084	PQBP1	OMIM:309500
HP:0011458	Abdominal symptom	7317	UBA1	ORPHA:1145
HP:0011458	Abdominal symptom	5824	PEX19	OMIM:614886
HP:0011458	Abdominal symptom	2742	GLRA2	OMIM:301076
HP:0011458	Abdominal symptom	867	CBL	OMIM:613563
HP:0011458	Abdominal symptom	6888	TALDO1	OMIM:606003
HP:0011458	Abdominal symptom	445	ASS1	OMIM:215700
HP:0011458	Abdominal symptom	1373	CPS1	OMIM:237300
HP:0011458	Abdominal symptom	875	CBS	ORPHA:394
HP:0011458	Abdominal symptom	3155	HMGCL	ORPHA:20
HP:0011458	Abdominal symptom	10560	SLC19A2	ORPHA:49827
HP:0011458	Abdominal symptom	38	ACAT1	ORPHA:134
HP:0011458	Abdominal symptom	383	ARG1	OMIM:207800
HP:0011458	Abdominal symptom	27249	MMADHC	ORPHA:79283
HP:0011458	Abdominal symptom	3593	IL12B	ORPHA:3287
HP:0011458	Abdominal symptom	6945	MLX	ORPHA:3287
HP:0011458	Abdominal symptom	4615	MYD88	ORPHA:33226
HP:0011458	Abdominal symptom	9054	NFS1	OMIM:619386
HP:0011458	Abdominal symptom	9652	SKIC3	ORPHA:84064
HP:0011458	Abdominal symptom	9652	SKIC3	OMIM:222470
HP:0011458	Abdominal symptom	727	C5	OMIM:609536
HP:0011458	Abdominal symptom	6603	SMARCD2	OMIM:617475
HP:0011458	Abdominal symptom	9493	KIF23	ORPHA:98870
HP:0011458	Abdominal symptom	29127	RACGAP1	ORPHA:98870
HP:0011458	Abdominal symptom	2811	GP1BA	ORPHA:853
HP:0011458	Abdominal symptom	3674	ITGA2B	ORPHA:853
HP:0011458	Abdominal symptom	3673	ITGA2	ORPHA:853
HP:0011458	Abdominal symptom	135228	CD109	ORPHA:853
HP:0011458	Abdominal symptom	3690	ITGB3	ORPHA:853
HP:0011458	Abdominal symptom	57169	ZNFX1	OMIM:619644
HP:0011458	Abdominal symptom	763	CA5A	OMIM:615751
HP:0011458	Abdominal symptom	4577	MT-TV	ORPHA:255210
HP:0011458	Abdominal symptom	4577	MT-TV	OMIM:540000
HP:0011458	Abdominal symptom	4508	MT-ATP6	ORPHA:255210
HP:0011458	Abdominal symptom	728294	D2HGDH	OMIM:600721
HP:0011458	Abdominal symptom	11235	PDCD10	ORPHA:221061
HP:0011458	Abdominal symptom	83605	CCM2	ORPHA:221061
HP:0011458	Abdominal symptom	889	KRIT1	ORPHA:221061
HP:0011458	Abdominal symptom	2593	GAMT	OMIM:612736
HP:0011458	Abdominal symptom	2710	GK	OMIM:307030
HP:0011458	Abdominal symptom	100996717	NOTCH2NLC	OMIM:603472
HP:0011458	Abdominal symptom	4511	MT-TC	OMIM:540000
HP:0011458	Abdominal symptom	2184	FAH	OMIM:276700
HP:0011458	Abdominal symptom	6821	SUOX	OMIM:272300
HP:0011458	Abdominal symptom	8884	SLC5A6	OMIM:618973
HP:0011458	Abdominal symptom	94	ACVRL1	OMIM:600376
HP:0011458	Abdominal symptom	2022	ENG	OMIM:187300
HP:0011458	Abdominal symptom	2022	ENG	ORPHA:329971
HP:0011458	Abdominal symptom	26585	GREM1	ORPHA:157794
HP:0011458	Abdominal symptom	23600	AMACR	OMIM:214950
HP:0011458	Abdominal symptom	23600	AMACR	ORPHA:79095
HP:0011458	Abdominal symptom	3587	IL10RA	OMIM:613148
HP:0011458	Abdominal symptom	5277	PIGA	ORPHA:447
HP:0011458	Abdominal symptom	79827	CLMP	OMIM:615237
HP:0011458	Abdominal symptom	9255	AIMP1	OMIM:260600
HP:0011458	Abdominal symptom	29928	TIMM22	OMIM:618851
HP:0011458	Abdominal symptom	55107	ANO1	OMIM:620045
HP:0011458	Abdominal symptom	65992	DDRGK1	OMIM:602557
HP:0011458	Abdominal symptom	65992	DDRGK1	ORPHA:93352
HP:0011458	Abdominal symptom	6809	STX3	ORPHA:2290
HP:0011458	Abdominal symptom	6809	STX3	OMIM:619445
HP:0011458	Abdominal symptom	4645	MYO5B	ORPHA:2290
HP:0011458	Abdominal symptom	5339	PLEC	ORPHA:158684
HP:0011458	Abdominal symptom	3691	ITGB4	ORPHA:158684
HP:0011458	Abdominal symptom	3691	ITGB4	ORPHA:79403
HP:0011458	Abdominal symptom	3875	KRT18	OMIM:215600
HP:0011458	Abdominal symptom	6775	STAT4	ORPHA:93552
HP:0011458	Abdominal symptom	6696	SPP1	ORPHA:93552
HP:0011458	Abdominal symptom	3654	IRAK1	ORPHA:93552
HP:0011458	Abdominal symptom	9839	ZEB2	OMIM:235730
HP:0011458	Abdominal symptom	2038	EPB42	ORPHA:822
HP:0011458	Abdominal symptom	6521	SLC4A1	ORPHA:822
HP:0011458	Abdominal symptom	6710	SPTB	ORPHA:822
HP:0011458	Abdominal symptom	6708	SPTA1	ORPHA:822
HP:0011458	Abdominal symptom	286	ANK1	ORPHA:822
HP:0011458	Abdominal symptom	3655	ITGA6	ORPHA:79403
HP:0011458	Abdominal symptom	7849	PAX8	OMIM:218700
HP:0011458	Abdominal symptom	7849	PAX8	ORPHA:95720
HP:0011458	Abdominal symptom	7849	PAX8	ORPHA:95713
HP:0011458	Abdominal symptom	7849	PAX8	ORPHA:95712
HP:0011458	Abdominal symptom	55112	DYNC2I1	ORPHA:93271
HP:0011458	Abdominal symptom	57560	IFT80	ORPHA:93271
HP:0011458	Abdominal symptom	57539	WDR35	ORPHA:93271
HP:0011458	Abdominal symptom	79659	DYNC2H1	ORPHA:93271
HP:0011458	Abdominal symptom	89891	DYNC2I2	ORPHA:93271
HP:0011458	Abdominal symptom	6514	SLC2A2	OMIM:227810
HP:0011458	Abdominal symptom	6514	SLC2A2	ORPHA:2088
HP:0011458	Abdominal symptom	2130	EWSR1	ORPHA:83469
HP:0011458	Abdominal symptom	7490	WT1	ORPHA:83469
HP:0011458	Abdominal symptom	2050	EPHB4	OMIM:617300
HP:0011458	Abdominal symptom	341640	FREM2	OMIM:617666
HP:0011458	Abdominal symptom	672	BRCA1	ORPHA:168829
HP:0011458	Abdominal symptom	72	ACTG2	ORPHA:2604
HP:0011458	Abdominal symptom	72	ACTG2	ORPHA:2241
HP:0011458	Abdominal symptom	72	ACTG2	OMIM:155310
HP:0011458	Abdominal symptom	6523	SLC5A1	ORPHA:35710
HP:0011458	Abdominal symptom	6523	SLC5A1	OMIM:606824
HP:0011458	Abdominal symptom	10683	DLL3	OMIM:277300
HP:0011458	Abdominal symptom	145873	MESP2	OMIM:277300
HP:0011458	Abdominal symptom	7253	TSHR	ORPHA:95720
HP:0011458	Abdominal symptom	7253	TSHR	ORPHA:95713
HP:0011458	Abdominal symptom	5172	SLC26A4	ORPHA:95720
HP:0011458	Abdominal symptom	5172	SLC26A4	ORPHA:95713
HP:0011458	Abdominal symptom	4868	NPHS1	OMIM:256300
HP:0011458	Abdominal symptom	3980	LIG3	ORPHA:298
HP:0011458	Abdominal symptom	50484	RRM2B	ORPHA:298
HP:0011458	Abdominal symptom	410	ARSA	ORPHA:309271
HP:0011458	Abdominal symptom	410	ARSA	ORPHA:309263
HP:0011458	Abdominal symptom	410	ARSA	ORPHA:309256
HP:0011458	Abdominal symptom	5660	PSAP	ORPHA:309271
HP:0011458	Abdominal symptom	5660	PSAP	ORPHA:309263
HP:0011458	Abdominal symptom	5660	PSAP	ORPHA:309256
HP:0011458	Abdominal symptom	4072	EPCAM	ORPHA:92050
HP:0011458	Abdominal symptom	105371045	PERCC1	ORPHA:92050
HP:0011458	Abdominal symptom	55687	TRMU	OMIM:613070
HP:0011458	Abdominal symptom	7019	TFAM	OMIM:617156
HP:0011458	Abdominal symptom	3643	INSR	OMIM:246200
HP:0011458	Abdominal symptom	3643	INSR	ORPHA:508
HP:0011458	Abdominal symptom	11232	POLG2	OMIM:618528
HP:0011458	Abdominal symptom	7080	NKX2-1	ORPHA:95713
HP:0011458	Abdominal symptom	1482	NKX2-5	ORPHA:95713
HP:0011458	Abdominal symptom	1482	NKX2-5	ORPHA:95712
HP:0011458	Abdominal symptom	2304	FOXE1	ORPHA:95713
HP:0011458	Abdominal symptom	4358	MPV17	OMIM:256810
HP:0011458	Abdominal symptom	6550	SLC9A3	OMIM:616868
HP:0011458	Abdominal symptom	3117	HLA-DQA1	OMIM:212750
HP:0011458	Abdominal symptom	3119	HLA-DQB1	OMIM:212750
HP:0011458	Abdominal symptom	1717	DHCR7	OMIM:270400
HP:0011458	Abdominal symptom	26175	LYSET	OMIM:619345
HP:0011458	Abdominal symptom	79867	TCTN2	OMIM:613885
HP:0011458	Abdominal symptom	79053	ALG8	OMIM:608104
HP:0011458	Abdominal symptom	2313	FLI1	ORPHA:370348
HP:0011458	Abdominal symptom	1836	SLC26A2	OMIM:600972
HP:0011458	Abdominal symptom	10526	IPO8	OMIM:619472
HP:0011458	Abdominal symptom	4629	MYH11	OMIM:619351
HP:0011458	Abdominal symptom	4629	MYH11	ORPHA:2241
HP:0011458	Abdominal symptom	54914	FOCAD	OMIM:619991
HP:0011458	Abdominal symptom	773	CACNA1A	ORPHA:2131
HP:0011458	Abdominal symptom	6507	SLC1A3	ORPHA:2131
HP:0011458	Abdominal symptom	477	ATP1A2	ORPHA:2131
HP:0011458	Abdominal symptom	478	ATP1A3	ORPHA:2131
HP:0011458	Abdominal symptom	79770	TXNDC15	OMIM:619879
HP:0011458	Abdominal symptom	5589	PRKCSH	OMIM:174050
HP:0011458	Abdominal symptom	5589	PRKCSH	ORPHA:2924
HP:0011458	Abdominal symptom	6476	SI	ORPHA:35122
HP:0011458	Abdominal symptom	5979	RET	OMIM:142623
HP:0011458	Abdominal symptom	229	ALDOB	ORPHA:469
HP:0011458	Abdominal symptom	10653	SPINT2	OMIM:270420
HP:0011458	Abdominal symptom	3594	IL12RB1	ORPHA:186
HP:0011458	Abdominal symptom	23534	TNPO3	ORPHA:186
HP:0011458	Abdominal symptom	3592	IL12A	ORPHA:186
HP:0011458	Abdominal symptom	6689	SPIB	ORPHA:186
HP:0011458	Abdominal symptom	5450	POU2AF1	ORPHA:186
HP:0011458	Abdominal symptom	9966	TNFSF15	ORPHA:186
HP:0011458	Abdominal symptom	79258	MMEL1	ORPHA:186
HP:0011458	Abdominal symptom	3663	IRF5	ORPHA:186
HP:0011458	Abdominal symptom	2316	FLNA	OMIM:300048
HP:0011458	Abdominal symptom	25802	LMOD1	OMIM:619362
HP:0011458	Abdominal symptom	25802	LMOD1	ORPHA:2241
HP:0011458	Abdominal symptom	10398	MYL9	OMIM:619365
HP:0011458	Abdominal symptom	50485	SMARCAL1	ORPHA:1830
HP:0011458	Abdominal symptom	11231	SEC63	ORPHA:2924
HP:0011458	Abdominal symptom	4041	LRP5	ORPHA:2924
HP:0011458	Abdominal symptom	1811	SLC26A3	OMIM:214700
HP:0011458	Abdominal symptom	4638	MYLK	ORPHA:2241
HP:0011458	Abdominal symptom	51128	SAR1B	ORPHA:71
HP:0011458	Abdominal symptom	540	ATP7B	OMIM:277900
HP:0011458	Abdominal symptom	10551	AGR2	OMIM:620233
HP:0011458	Abdominal symptom	3988	LIPA	ORPHA:75233
HP:0011458	Abdominal symptom	210	ALAD	ORPHA:100924
HP:0011458	Abdominal symptom	79989	IFT56	OMIM:619534
HP:0011458	Abdominal symptom	1280	COL2A1	ORPHA:85166
HP:0011458	Abdominal symptom	11181	TREH	ORPHA:103909
HP:0011458	Abdominal symptom	5297	PI4KA	ORPHA:436252
HP:0011458	Abdominal symptom	57217	TTC7A	ORPHA:436252
HP:0011458	Abdominal symptom	9321	TRIP11	ORPHA:93299
HP:0011458	Abdominal symptom	3110	MNX1	OMIM:176450
HP:0011458	Abdominal symptom	2492	FSHR	ORPHA:64739
HP:0011458	Abdominal symptom	5836	PYGL	ORPHA:369
HP:0011458	Abdominal symptom	205327	C2orf69	OMIM:619423
HP:0011458	Abdominal symptom	3145	HMBS	ORPHA:79276
HP:0011458	Abdominal symptom	916	CD3E	ORPHA:169160
HP:0011458	Abdominal symptom	919	CD247	ORPHA:169160
HP:0011458	Abdominal symptom	919	CD247	OMIM:610163
HP:0011458	Abdominal symptom	5994	RFXAP	ORPHA:572
HP:0011458	Abdominal symptom	5994	RFXAP	OMIM:209920
HP:0011458	Abdominal symptom	4261	CIITA	ORPHA:572
HP:0011458	Abdominal symptom	4261	CIITA	OMIM:209920
HP:0011458	Abdominal symptom	5993	RFX5	ORPHA:572
HP:0011458	Abdominal symptom	5993	RFX5	OMIM:209920
HP:0011458	Abdominal symptom	8625	RFXANK	ORPHA:572
HP:0011458	Abdominal symptom	8625	RFXANK	OMIM:209920
HP:0011458	Abdominal symptom	3932	LCK	OMIM:615758
HP:0011458	Abdominal symptom	51608	GET4	OMIM:620200
HP:0011458	Abdominal symptom	84701	COX4I2	OMIM:612714
HP:0011458	Abdominal symptom	4842	NOS1	ORPHA:930
HP:0011458	Abdominal symptom	51119	SBDS	ORPHA:811
HP:0011458	Abdominal symptom	3858	KRT10	ORPHA:312
HP:0011458	Abdominal symptom	3848	KRT1	ORPHA:312
HP:0011458	Abdominal symptom	641	BLM	ORPHA:125
HP:0011458	Abdominal symptom	613	BCR	ORPHA:521
HP:0011458	Abdominal symptom	221496	LEMD2	OMIM:619322
HP:0011458	Abdominal symptom	79971	WLS	OMIM:619648
HP:0011458	Abdominal symptom	83483	PLVAP	OMIM:618183
HP:0011458	Abdominal symptom	58484	NLRC4	OMIM:616050
HP:0011458	Abdominal symptom	55898	UNC45A	OMIM:619377
HP:0011458	Abdominal symptom	1956	EGFR	OMIM:616069
HP:0011458	Abdominal symptom	6578	SLCO2A1	OMIM:614441
HP:0011458	Abdominal symptom	6578	SLCO2A1	OMIM:167100
HP:0011458	Abdominal symptom	50619	DEF6	OMIM:619573
HP:0011458	Abdominal symptom	50943	FOXP3	ORPHA:37042
HP:0011458	Abdominal symptom	9131	AIFM1	ORPHA:238329
HP:0011458	Abdominal symptom	4524	MTHFR	ORPHA:395
HP:0011458	Abdominal symptom	4621	MYH3	ORPHA:2053
HP:0011458	Abdominal symptom	4621	MYH3	OMIM:193700
HP:0011458	Abdominal symptom	199857	ALG14	OMIM:619036
HP:0011458	Abdominal symptom	51399	TRAPPC4	OMIM:618741
HP:0011458	Abdominal symptom	1024	CDK8	OMIM:618748
HP:0011458	Abdominal symptom	145173	B3GLCT	ORPHA:709
HP:0011458	Abdominal symptom	145173	B3GLCT	OMIM:261540
HP:0011458	Abdominal symptom	22800	RRAS2	OMIM:618624
HP:0011458	Abdominal symptom	22800	RRAS2	ORPHA:648
HP:0011458	Abdominal symptom	2067	ERCC1	ORPHA:90322
HP:0011458	Abdominal symptom	2067	ERCC1	ORPHA:1466
HP:0011458	Abdominal symptom	7259	TSPYL1	OMIM:608800
HP:0011458	Abdominal symptom	6341	SCO1	OMIM:619048
HP:0011458	Abdominal symptom	1352	COX10	OMIM:619046
HP:0011458	Abdominal symptom	25782	RAB3GAP2	OMIM:212720
HP:0011458	Abdominal symptom	25782	RAB3GAP2	ORPHA:1387
HP:0011458	Abdominal symptom	9723	SEMA3E	ORPHA:138
HP:0011458	Abdominal symptom	9382	COG1	OMIM:611209
HP:0011458	Abdominal symptom	63908	NAPB	OMIM:620033
HP:0011458	Abdominal symptom	2263	FGFR2	ORPHA:87
HP:0011458	Abdominal symptom	2263	FGFR2	OMIM:123790
HP:0011458	Abdominal symptom	56992	KIF15	ORPHA:261323
HP:0011458	Abdominal symptom	170302	ARX	OMIM:300215
HP:0011458	Abdominal symptom	146862	UNC45B	OMIM:619178
HP:0011458	Abdominal symptom	274	BIN1	OMIM:255200
HP:0011458	Abdominal symptom	10381	TUBB3	ORPHA:300570
HP:0011458	Abdominal symptom	686	BTD	OMIM:253260
HP:0011458	Abdominal symptom	170825	GSX2	OMIM:618646
HP:0011458	Abdominal symptom	157680	VPS13B	OMIM:216550
HP:0011458	Abdominal symptom	157680	VPS13B	ORPHA:193
HP:0011458	Abdominal symptom	1716	DGUOK	OMIM:251880
HP:0011458	Abdominal symptom	7386	UQCRFS1	OMIM:618775
HP:0011458	Abdominal symptom	88	ACTN2	OMIM:618654
HP:0011458	Abdominal symptom	833	CARS1	OMIM:618891
HP:0011458	Abdominal symptom	1641	DCX	ORPHA:2148
HP:0011458	Abdominal symptom	51021	MRPS16	OMIM:610498
HP:0011458	Abdominal symptom	56922	MCCC1	OMIM:210200
HP:0011458	Abdominal symptom	79600	TCTN1	ORPHA:475
HP:0011458	Abdominal symptom	65250	CPLANE1	ORPHA:475
HP:0011458	Abdominal symptom	65250	CPLANE1	ORPHA:2754
HP:0011458	Abdominal symptom	91147	TMEM67	ORPHA:475
HP:0011458	Abdominal symptom	91147	TMEM67	ORPHA:1454
HP:0011458	Abdominal symptom	200894	ARL13B	ORPHA:475
HP:0011458	Abdominal symptom	9731	CEP104	ORPHA:475
HP:0011458	Abdominal symptom	219844	HYLS1	ORPHA:475
HP:0011458	Abdominal symptom	23247	KATNIP	ORPHA:475
HP:0011458	Abdominal symptom	219854	TMEM218	ORPHA:475
HP:0011458	Abdominal symptom	80776	B9D2	ORPHA:475
HP:0011458	Abdominal symptom	10464	PIBF1	ORPHA:475
HP:0011458	Abdominal symptom	80210	ARMC9	ORPHA:475
HP:0011458	Abdominal symptom	23116	TOGARAM1	ORPHA:475
HP:0011458	Abdominal symptom	25776	CBY1	ORPHA:475
HP:0011458	Abdominal symptom	27077	B9D1	ORPHA:475
HP:0011458	Abdominal symptom	403	ARL3	ORPHA:475
HP:0011458	Abdominal symptom	26160	IFT172	ORPHA:474
HP:0011458	Abdominal symptom	51626	DYNC2LI1	ORPHA:474
HP:0011458	Abdominal symptom	9742	IFT140	ORPHA:474
HP:0011458	Abdominal symptom	57728	WDR19	ORPHA:474
HP:0011458	Abdominal symptom	79809	TTC21B	ORPHA:474
HP:0011458	Abdominal symptom	1629	DBT	OMIM:248600
HP:0011458	Abdominal symptom	593	BCKDHA	OMIM:248600
HP:0011458	Abdominal symptom	594	BCKDHB	OMIM:248600
HP:0011458	Abdominal symptom	5190	PEX6	OMIM:614862
HP:0011458	Abdominal symptom	5190	PEX6	ORPHA:912
HP:0011458	Abdominal symptom	9091	PIGQ	OMIM:618548
HP:0011458	Abdominal symptom	80025	PANK2	OMIM:234200
HP:0011458	Abdominal symptom	166785	MMAA	OMIM:251100
HP:0011458	Abdominal symptom	10907	TXNL4A	OMIM:608572
HP:0011458	Abdominal symptom	10436	EMG1	ORPHA:1270
HP:0011458	Abdominal symptom	2548	GAA	ORPHA:308552
HP:0011458	Abdominal symptom	5192	PEX10	OMIM:614870
HP:0011458	Abdominal symptom	5192	PEX10	ORPHA:912
HP:0011458	Abdominal symptom	4849	CNOT3	OMIM:618672
HP:0011458	Abdominal symptom	1028	CDKN1C	ORPHA:397590
HP:0011458	Abdominal symptom	5324	PLAG1	ORPHA:397590
HP:0011458	Abdominal symptom	5324	PLAG1	OMIM:618907
HP:0011458	Abdominal symptom	8091	HMGA2	ORPHA:397590
HP:0011458	Abdominal symptom	8091	HMGA2	OMIM:618908
HP:0011458	Abdominal symptom	200424	TET3	OMIM:618798
HP:0011458	Abdominal symptom	4692	NDN	ORPHA:98754
HP:0011458	Abdominal symptom	4692	NDN	ORPHA:177904
HP:0011458	Abdominal symptom	4692	NDN	ORPHA:177901
HP:0011458	Abdominal symptom	4692	NDN	ORPHA:177910
HP:0011458	Abdominal symptom	644096	SDHAF1	ORPHA:3208
HP:0011458	Abdominal symptom	22930	RAB3GAP1	ORPHA:1387
HP:0011458	Abdominal symptom	84295	PHF6	ORPHA:127
HP:0011458	Abdominal symptom	701	BUB1B	OMIM:257300
HP:0011458	Abdominal symptom	8726	EED	ORPHA:3447
HP:0011458	Abdominal symptom	23512	SUZ12	ORPHA:3447
HP:0011458	Abdominal symptom	2146	EZH2	ORPHA:3447
HP:0011458	Abdominal symptom	6567	SLC16A2	ORPHA:59
HP:0011458	Abdominal symptom	6567	SLC16A2	OMIM:300523
HP:0011458	Abdominal symptom	54463	RETREG1	OMIM:201300
HP:0011458	Abdominal symptom	65125	WNK1	OMIM:201300
HP:0011458	Abdominal symptom	3329	HSPD1	OMIM:612233
HP:0011458	Abdominal symptom	58497	PRUNE1	ORPHA:544469
HP:0011458	Abdominal symptom	8799	PEX11B	ORPHA:912
HP:0011458	Abdominal symptom	6134	RPL10	OMIM:300998
HP:0011458	Abdominal symptom	1291	COL6A1	OMIM:254090
HP:0011458	Abdominal symptom	1292	COL6A2	OMIM:254090
HP:0011458	Abdominal symptom	1293	COL6A3	OMIM:254090
HP:0011458	Abdominal symptom	51728	POLR3K	OMIM:619310
HP:0011458	Abdominal symptom	55593	OTUD5	OMIM:301056
HP:0011458	Abdominal symptom	55869	HDAC8	OMIM:300882
HP:0011458	Abdominal symptom	55869	HDAC8	ORPHA:199
HP:0011458	Abdominal symptom	11277	TREX1	OMIM:225750
HP:0011458	Abdominal symptom	9126	SMC3	OMIM:610759
HP:0011458	Abdominal symptom	9126	SMC3	ORPHA:199
HP:0011458	Abdominal symptom	2218	FKTN	OMIM:236670
HP:0011458	Abdominal symptom	8869	ST3GAL5	OMIM:609056
HP:0011458	Abdominal symptom	5980	REV3L	ORPHA:570
HP:0011458	Abdominal symptom	23129	PLXND1	ORPHA:570
HP:0011458	Abdominal symptom	7084	TK2	ORPHA:254875
HP:0011458	Abdominal symptom	2073	ERCC5	ORPHA:1466
HP:0011458	Abdominal symptom	201163	FLCN	OMIM:610883
HP:0011458	Abdominal symptom	5604	MAP2K1	ORPHA:1340
HP:0011458	Abdominal symptom	5604	MAP2K1	OMIM:163950
HP:0011458	Abdominal symptom	5605	MAP2K2	ORPHA:1340
HP:0011458	Abdominal symptom	128989	TANGO2	ORPHA:480864
HP:0011458	Abdominal symptom	6045	RNF2	OMIM:619460
HP:0011458	Abdominal symptom	22808	MRAS	OMIM:618499
HP:0011458	Abdominal symptom	22808	MRAS	ORPHA:648
HP:0011458	Abdominal symptom	84818	IL17RC	ORPHA:1334
HP:0011458	Abdominal symptom	64581	CLEC7A	ORPHA:1334
HP:0011458	Abdominal symptom	23765	IL17RA	ORPHA:1334
HP:0011458	Abdominal symptom	10758	TRAF3IP2	ORPHA:1334
HP:0011458	Abdominal symptom	112744	IL17F	ORPHA:1334
HP:0011458	Abdominal symptom	128637	TBC1D20	OMIM:615663
HP:0011458	Abdominal symptom	57545	CC2D2A	ORPHA:1454
HP:0011458	Abdominal symptom	25939	SAMHD1	OMIM:612952
HP:0011458	Abdominal symptom	4548	MTR	OMIM:250940
HP:0011458	Abdominal symptom	326625	MMAB	OMIM:251110
HP:0011458	Abdominal symptom	84172	POLR1B	OMIM:618939
HP:0011458	Abdominal symptom	23476	BRD4	ORPHA:199
HP:0011458	Abdominal symptom	25836	NIPBL	ORPHA:199
HP:0011458	Abdominal symptom	6197	RPS6KA3	ORPHA:192
HP:0011458	Abdominal symptom	51241	COX16	OMIM:619355
HP:0011458	Abdominal symptom	4337	MOCS1	OMIM:252150
HP:0011458	Abdominal symptom	435	ASL	OMIM:207900
HP:0011458	Abdominal symptom	6452	SH3BP2	ORPHA:184
HP:0011458	Abdominal symptom	23556	PIGN	ORPHA:280633
HP:0011458	Abdominal symptom	90522	YIF1B	OMIM:619125
HP:0011458	Abdominal symptom	90416	CCDC32	OMIM:619123
HP:0011458	Abdominal symptom	617	BCS1L	OMIM:124000
HP:0011458	Abdominal symptom	55252	ASXL2	OMIM:617190
HP:0011458	Abdominal symptom	10479	SLC9A6	ORPHA:85278
HP:0011458	Abdominal symptom	2193	FARSA	OMIM:619013
HP:0011458	Abdominal symptom	51780	KDM3B	OMIM:618846
HP:0011458	Abdominal symptom	8481	OFD1	OMIM:300804
HP:0011458	Abdominal symptom	8481	OFD1	ORPHA:2754
HP:0011458	Abdominal symptom	2806	GOT2	OMIM:618721
HP:0011458	Abdominal symptom	3295	HSD17B4	OMIM:261515
HP:0011458	Abdominal symptom	8216	LZTR1	ORPHA:648
HP:0011458	Abdominal symptom	6237	RRAS	ORPHA:648
HP:0011458	Abdominal symptom	5894	RAF1	ORPHA:648
HP:0011458	Abdominal symptom	200734	SPRED2	ORPHA:648
HP:0011458	Abdominal symptom	6654	SOS1	ORPHA:648
HP:0011458	Abdominal symptom	6655	SOS2	ORPHA:648
HP:0011458	Abdominal symptom	5781	PTPN11	ORPHA:648
HP:0011458	Abdominal symptom	5781	PTPN11	OMIM:163950
HP:0011458	Abdominal symptom	5922	RASA2	ORPHA:648
HP:0011458	Abdominal symptom	4848	CNOT2	OMIM:618608
HP:0011458	Abdominal symptom	1807	DPYS	OMIM:222748
HP:0011458	Abdominal symptom	10210	TOPORS	ORPHA:2754
HP:0011458	Abdominal symptom	5147	PDE6D	ORPHA:2754
HP:0011458	Abdominal symptom	51259	TMEM216	ORPHA:2754
HP:0011458	Abdominal symptom	317662	FAM149B1	ORPHA:2754
HP:0011458	Abdominal symptom	374654	KIF7	ORPHA:2754
HP:0011458	Abdominal symptom	9897	WASHC5	ORPHA:7
HP:0011458	Abdominal symptom	28952	CCDC22	ORPHA:7
HP:0011458	Abdominal symptom	3908	LAMA2	OMIM:607855
HP:0011458	Abdominal symptom	8803	SUCLA2	OMIM:612073
HP:0011458	Abdominal symptom	2036	EPB41L1	OMIM:614257
HP:0011458	Abdominal symptom	4281	MID1	ORPHA:2745
HP:0011458	Abdominal symptom	84148	KAT8	OMIM:618974
HP:0011458	Abdominal symptom	57194	ATP10A	ORPHA:411515
HP:0011458	Abdominal symptom	5052	PRDX1	OMIM:277400
HP:0011458	Abdominal symptom	5621	PRNP	ORPHA:280397
HP:0011458	Abdominal symptom	4221	MEN1	ORPHA:99879
HP:0011458	Abdominal symptom	9247	GCM2	ORPHA:99879
HP:0011458	Abdominal symptom	79577	CDC73	ORPHA:99879
HP:0011458	Abdominal symptom	2778	GNAS	ORPHA:94089
HP:0011458	Abdominal symptom	2778	GNAS	ORPHA:79443
HP:0011458	Abdominal symptom	2778	GNAS	ORPHA:79444
HP:0011458	Abdominal symptom	8675	STX16	ORPHA:94089
HP:0011458	Abdominal symptom	84617	TUBB6	OMIM:617732
HP:0011458	Abdominal symptom	7156	TOP3A	OMIM:618098
HP:0011458	Abdominal symptom	80267	EDEM3	OMIM:619493
HP:0011458	Abdominal symptom	1351	COX8A	OMIM:619059
HP:0011458	Abdominal symptom	8218	CLTCL1	ORPHA:453510
HP:0011458	Abdominal symptom	2917	GRM7	OMIM:618922
HP:0011458	Abdominal symptom	84706	GPT2	ORPHA:477673
HP:0011458	Abdominal symptom	10342	TFG	ORPHA:90117
HP:0011458	Abdominal symptom	91574	MTRFR	ORPHA:254930
HP:0011458	Abdominal symptom	10466	COG5	ORPHA:263487
HP:0011458	Abdominal symptom	26005	C2CD3	ORPHA:434179
HP:0011458	Abdominal symptom	1861	TOR1A	OMIM:618947
HP:0011458	Abdominal symptom	4897	NRCAM	OMIM:619833
HP:0011458	Abdominal symptom	6323	SCN1A	OMIM:619317
HP:0011458	Abdominal symptom	23345	SYNE1	ORPHA:319332
HP:0011458	Abdominal symptom	128869	PIGU	OMIM:618590
HP:0011458	Abdominal symptom	5631	PRPS1	ORPHA:423479
HP:0011458	Abdominal symptom	80208	SPG11	ORPHA:300605
HP:0011458	Abdominal symptom	10280	SIGMAR1	ORPHA:300605
HP:0011458	Abdominal symptom	10558	SPTLC1	ORPHA:300605
HP:0011458	Abdominal symptom	57679	ALS2	ORPHA:300605
HP:0011458	Abdominal symptom	253959	RALGAPA1	OMIM:618797
HP:0011458	Abdominal symptom	7358	UGDH	OMIM:618792
HP:0011458	Abdominal symptom	1185	CLCN6	OMIM:619173
HP:0011458	Abdominal symptom	84720	PIGO	ORPHA:247262
HP:0011458	Abdominal symptom	93210	PGAP3	ORPHA:247262
HP:0011458	Abdominal symptom	284098	PIGW	ORPHA:247262
HP:0011458	Abdominal symptom	27315	PGAP2	ORPHA:247262
HP:0011458	Abdominal symptom	9487	PIGL	ORPHA:247262
HP:0011458	Abdominal symptom	93627	TBCK	OMIM:616900
HP:0011458	Abdominal symptom	819	CAMLG	OMIM:620201
HP:0011458	Abdominal symptom	2055	CLN8	ORPHA:1947
HP:0011458	Abdominal symptom	6509	SLC1A4	ORPHA:447997
HP:0011458	Abdominal symptom	131377	KLHL40	OMIM:615348
HP:0011458	Abdominal symptom	26040	SETBP1	ORPHA:798
HP:0011458	Abdominal symptom	8694	DGAT1	OMIM:615863
HP:0011458	Abdominal symptom	5244	ABCB4	ORPHA:69663
HP:0011458	Abdominal symptom	353	APRT	ORPHA:976
HP:0011458	Abdominal symptom	2673	GFPT1	OMIM:608931
HP:0011458	Abdominal symptom	1145	CHRNE	OMIM:608931
HP:0011458	Abdominal symptom	1145	CHRNE	OMIM:616324
HP:0011458	Abdominal symptom	340533	NEXMIF	OMIM:300912
HP:0011458	Abdominal symptom	1144	CHRND	OMIM:616322
HP:0011458	Abdominal symptom	1144	CHRND	OMIM:616323
HP:0011458	Abdominal symptom	51569	UFM1	OMIM:617899
HP:0011458	Abdominal symptom	5913	RAPSN	OMIM:616326
HP:0011458	Abdominal symptom	6659	SOX4	OMIM:618506
HP:0011458	Abdominal symptom	6659	SOX4	ORPHA:1465
HP:0011458	Abdominal symptom	10059	DNM1L	OMIM:614388
HP:0011458	Abdominal symptom	10059	DNM1L	ORPHA:98673
HP:0011458	Abdominal symptom	55209	SETD5	ORPHA:404440
HP:0011458	Abdominal symptom	55209	SETD5	OMIM:615761
HP:0011458	Abdominal symptom	80816	ASXL3	OMIM:615485
HP:0011458	Abdominal symptom	283489	CHAMP1	OMIM:616579
HP:0011458	Abdominal symptom	387787	LIPT2	OMIM:617668
HP:0011458	Abdominal symptom	23322	RPGRIP1L	ORPHA:220497
HP:0011458	Abdominal symptom	4867	NPHP1	ORPHA:220497
HP:0011458	Abdominal symptom	65062	TMEM237	ORPHA:220497
HP:0011458	Abdominal symptom	27245	AHDC1	ORPHA:412069
HP:0011458	Abdominal symptom	1841	DTYMK	OMIM:619847
HP:0011458	Abdominal symptom	166378	AFG2A	OMIM:616577
HP:0011458	Abdominal symptom	54806	AHI1	ORPHA:220493
HP:0011458	Abdominal symptom	56623	INPP5E	ORPHA:220493
HP:0011458	Abdominal symptom	153241	CEP120	ORPHA:220493
HP:0011458	Abdominal symptom	54903	MKS1	ORPHA:220493
HP:0011458	Abdominal symptom	95681	CEP41	ORPHA:220493
HP:0011458	Abdominal symptom	55904	KMT2E	OMIM:618512
HP:0011458	Abdominal symptom	84197	POMK	OMIM:615249
HP:0011458	Abdominal symptom	51112	TRAPPC12	OMIM:617669
HP:0011458	Abdominal symptom	103	ADAR	OMIM:615010
HP:0011458	Abdominal symptom	7343	UBTF	OMIM:617672
HP:0011458	Abdominal symptom	150094	SIK1	OMIM:616341
HP:0011458	Abdominal symptom	150094	SIK1	ORPHA:1935
HP:0011458	Abdominal symptom	3064	HTT	OMIM:617435
HP:0011458	Abdominal symptom	7994	KAT6A	ORPHA:457193
HP:0011458	Abdominal symptom	7994	KAT6A	OMIM:616268
HP:0011458	Abdominal symptom	2770	GNAI1	OMIM:619854
HP:0011458	Abdominal symptom	3767	KCNJ11	ORPHA:79644
HP:0011458	Abdominal symptom	3767	KCNJ11	ORPHA:276580
HP:0011458	Abdominal symptom	9401	RECQL4	OMIM:218600
HP:0011458	Abdominal symptom	9401	RECQL4	OMIM:266280
HP:0011458	Abdominal symptom	4330	MN1	OMIM:618774
HP:0011458	Abdominal symptom	8789	FBP2	OMIM:619864
HP:0011458	Abdominal symptom	23327	NEDD4L	OMIM:617201
HP:0011458	Abdominal symptom	790955	UQCC3	OMIM:616111
HP:0011458	Abdominal symptom	51633	OTUD6B	OMIM:617452
HP:0011458	Abdominal symptom	51633	OTUD6B	ORPHA:505237
HP:0011458	Abdominal symptom	5593	PRKG2	OMIM:619638
HP:0011458	Abdominal symptom	51692	CPSF3	OMIM:619876
HP:0011458	Abdominal symptom	3098	HK1	OMIM:618547
HP:0011458	Abdominal symptom	79718	TBL1XR1	OMIM:602342
HP:0011458	Abdominal symptom	55210	ATAD3A	ORPHA:496790
HP:0011458	Abdominal symptom	55210	ATAD3A	OMIM:617183
HP:0011458	Abdominal symptom	8818	DPM2	OMIM:615042
HP:0011458	Abdominal symptom	56947	MFF	ORPHA:485421
HP:0011458	Abdominal symptom	2904	GRIN2B	OMIM:616139
HP:0011458	Abdominal symptom	4285	MIPEP	OMIM:617228
HP:0011458	Abdominal symptom	4208	MEF2C	ORPHA:228384
HP:0011458	Abdominal symptom	4208	MEF2C	OMIM:613443
HP:0011458	Abdominal symptom	4000	LMNA	ORPHA:157973
HP:0011458	Abdominal symptom	4000	LMNA	OMIM:613205
HP:0011458	Abdominal symptom	4000	LMNA	OMIM:619793
HP:0011458	Abdominal symptom	6843	VAMP1	OMIM:618323
HP:0011458	Abdominal symptom	6843	VAMP1	ORPHA:98914
HP:0011458	Abdominal symptom	5917	RARS1	OMIM:616140
HP:0011458	Abdominal symptom	197258	FCSK	OMIM:618324
HP:0011458	Abdominal symptom	3798	KIF5A	OMIM:617235
HP:0011458	Abdominal symptom	125988	MICOS13	OMIM:618329
HP:0011458	Abdominal symptom	6572	SLC18A3	OMIM:617239
HP:0011458	Abdominal symptom	6572	SLC18A3	ORPHA:98914
HP:0011458	Abdominal symptom	23499	MACF1	OMIM:618325
HP:0011458	Abdominal symptom	404672	GTF2H5	OMIM:616395
HP:0011458	Abdominal symptom	25970	SH2B1	ORPHA:261197
HP:0011458	Abdominal symptom	10533	ATG7	OMIM:619422
HP:0011458	Abdominal symptom	56160	NSMCE3	OMIM:617241
HP:0011458	Abdominal symptom	5881	RAC3	OMIM:618577
HP:0011458	Abdominal symptom	5813	PURA	OMIM:616158
HP:0011458	Abdominal symptom	5426	POLE	OMIM:618336
HP:0011458	Abdominal symptom	389827	MYMK	OMIM:254940
HP:0011458	Abdominal symptom	2639	GCDH	ORPHA:25
HP:0011458	Abdominal symptom	1134	CHRNA1	OMIM:601462
HP:0011458	Abdominal symptom	22827	PUF60	ORPHA:508498
HP:0011458	Abdominal symptom	22827	PUF60	OMIM:615583
HP:0011458	Abdominal symptom	9488	PIGB	OMIM:618580
HP:0011458	Abdominal symptom	84894	LINGO1	OMIM:618103
HP:0011458	Abdominal symptom	56203	LMOD3	OMIM:616165
HP:0011458	Abdominal symptom	56203	LMOD3	ORPHA:171436
HP:0011458	Abdominal symptom	10765	KDM5B	OMIM:618109
HP:0011458	Abdominal symptom	8573	CASK	OMIM:300749
HP:0011458	Abdominal symptom	92335	STRADA	ORPHA:500533
HP:0011458	Abdominal symptom	92335	STRADA	OMIM:611087
HP:0011458	Abdominal symptom	6418	SET	OMIM:618106
HP:0011458	Abdominal symptom	9526	MPDU1	OMIM:609180
HP:0011458	Abdominal symptom	9526	MPDU1	ORPHA:79323
HP:0011458	Abdominal symptom	79813	EHMT1	ORPHA:96147
HP:0011458	Abdominal symptom	4703	NEB	OMIM:256030
HP:0011458	Abdominal symptom	4703	NEB	ORPHA:171436
HP:0011458	Abdominal symptom	4703	NEB	ORPHA:171439
HP:0011458	Abdominal symptom	2200	FBN1	ORPHA:284979
HP:0011458	Abdominal symptom	3208	HPCA	ORPHA:99657
HP:0011458	Abdominal symptom	7707	ZNF148	OMIM:617260
HP:0011458	Abdominal symptom	29887	SNX10	OMIM:615085
HP:0011458	Abdominal symptom	5515	PPP2CA	OMIM:618354
HP:0011458	Abdominal symptom	55610	VPS50	OMIM:619685
HP:0011458	Abdominal symptom	283989	TSEN54	OMIM:225753
HP:0011458	Abdominal symptom	283989	TSEN54	ORPHA:2524
HP:0011458	Abdominal symptom	23114	NFASC	OMIM:618356
HP:0011458	Abdominal symptom	5649	RELN	ORPHA:89844
HP:0011458	Abdominal symptom	10300	KATNB1	ORPHA:89844
HP:0011458	Abdominal symptom	54820	NDE1	ORPHA:89844
HP:0011458	Abdominal symptom	54820	NDE1	OMIM:614019
HP:0011458	Abdominal symptom	3417	IDH1	ORPHA:99646
HP:0011458	Abdominal symptom	29925	GMPPB	ORPHA:370968
HP:0011458	Abdominal symptom	29925	GMPPB	OMIM:615350
HP:0011458	Abdominal symptom	29925	GMPPB	OMIM:615351
HP:0011458	Abdominal symptom	79147	FKRP	ORPHA:370968
HP:0011458	Abdominal symptom	79147	FKRP	OMIM:606612
HP:0011458	Abdominal symptom	79147	FKRP	OMIM:613153
HP:0011458	Abdominal symptom	29954	POMT2	ORPHA:370968
HP:0011458	Abdominal symptom	9215	LARGE1	ORPHA:370968
HP:0011458	Abdominal symptom	10585	POMT1	ORPHA:370968
HP:0011458	Abdominal symptom	427	ASAH1	ORPHA:333
HP:0011458	Abdominal symptom	51132	RLIM	OMIM:300978
HP:0011458	Abdominal symptom	10588	MTHFS	OMIM:618367
HP:0011458	Abdominal symptom	6601	SMARCC2	OMIM:618362
HP:0011458	Abdominal symptom	6601	SMARCC2	ORPHA:1465
HP:0011458	Abdominal symptom	4052	LTBP1	OMIM:619451
HP:0011458	Abdominal symptom	7468	NSD2	OMIM:619695
HP:0011458	Abdominal symptom	3376	IARS1	ORPHA:541423
HP:0011458	Abdominal symptom	439	GET3	OMIM:620203
HP:0011458	Abdominal symptom	51102	MECR	OMIM:617282
HP:0011458	Abdominal symptom	51102	MECR	ORPHA:508093
HP:0011458	Abdominal symptom	8802	SUCLG1	ORPHA:17
HP:0011458	Abdominal symptom	8802	SUCLG1	OMIM:245400
HP:0011458	Abdominal symptom	3188	HNRNPH2	OMIM:300986
HP:0011458	Abdominal symptom	84705	GTPBP3	OMIM:616198
HP:0011458	Abdominal symptom	50801	KCNK4	OMIM:618381
HP:0011458	Abdominal symptom	8943	AP3D1	OMIM:617050
HP:0011458	Abdominal symptom	55975	KLHL7	OMIM:617055
HP:0011458	Abdominal symptom	57187	THOC2	OMIM:300957
HP:0011458	Abdominal symptom	134218	DNAJC21	OMIM:617052
HP:0011458	Abdominal symptom	9851	KIAA0753	OMIM:619479
HP:0011458	Abdominal symptom	10846	PDE10A	ORPHA:494526
HP:0011458	Abdominal symptom	10846	PDE10A	OMIM:616921
HP:0011458	Abdominal symptom	8452	CUL3	OMIM:619239
HP:0011458	Abdominal symptom	10283	CWC27	ORPHA:166035
HP:0011458	Abdominal symptom	10283	CWC27	OMIM:250410
HP:0011458	Abdominal symptom	388015	RTL1	ORPHA:96184
HP:0011458	Abdominal symptom	388015	RTL1	ORPHA:96334
HP:0011458	Abdominal symptom	388015	RTL1	ORPHA:254531
HP:0011458	Abdominal symptom	388015	RTL1	ORPHA:254528
HP:0011458	Abdominal symptom	8788	DLK1	ORPHA:96184
HP:0011458	Abdominal symptom	8788	DLK1	ORPHA:96334
HP:0011458	Abdominal symptom	8788	DLK1	ORPHA:254531
HP:0011458	Abdominal symptom	8788	DLK1	ORPHA:254528
HP:0011458	Abdominal symptom	55384	MEG3	ORPHA:96184
HP:0011458	Abdominal symptom	55384	MEG3	ORPHA:96334
HP:0011458	Abdominal symptom	55384	MEG3	ORPHA:254531
HP:0011458	Abdominal symptom	55384	MEG3	ORPHA:254528
HP:0011458	Abdominal symptom	11198	SUPT16H	OMIM:619480
HP:0011458	Abdominal symptom	283446	MYO1H	OMIM:619482
HP:0011458	Abdominal symptom	7204	TRIO	OMIM:617061
HP:0011458	Abdominal symptom	9325	TRIP4	OMIM:617066
HP:0011458	Abdominal symptom	9325	TRIP4	ORPHA:486815
HP:0011458	Abdominal symptom	100147744	RNU7-1	OMIM:619487
HP:0011458	Abdominal symptom	60558	GUF1	OMIM:617065
HP:0011458	Abdominal symptom	374879	ZNF699	OMIM:619488
HP:0011458	Abdominal symptom	8239	USP9X	OMIM:300968
HP:0011458	Abdominal symptom	8239	USP9X	ORPHA:480880
HP:0011458	Abdominal symptom	10660	LBX1	OMIM:619483
HP:0011458	Abdominal symptom	9508	ADAMTS3	OMIM:618154
HP:0011458	Abdominal symptom	84340	GFM2	OMIM:618397
HP:0011458	Abdominal symptom	9373	PLAA	ORPHA:521426
HP:0011458	Abdominal symptom	9373	PLAA	OMIM:617527
HP:0011458	Abdominal symptom	57038	RARS2	OMIM:611523
HP:0011458	Abdominal symptom	199221	DZIP1L	ORPHA:731
HP:0011458	Abdominal symptom	201595	STT3B	ORPHA:370924
HP:0011458	Abdominal symptom	201595	STT3B	OMIM:615597
HP:0011458	Abdominal symptom	6748	SSR4	ORPHA:370927
HP:0011458	Abdominal symptom	6748	SSR4	OMIM:300934
HP:0011458	Abdominal symptom	5805	PTS	OMIM:261640
HP:0011458	Abdominal symptom	5557	PRIM1	OMIM:620005
HP:0011458	Abdominal symptom	1376	CPT2	ORPHA:228308
HP:0011458	Abdominal symptom	3030	HADHA	ORPHA:5
HP:0011458	Abdominal symptom	3030	HADHA	OMIM:609015
HP:0011458	Abdominal symptom	11342	RNF13	ORPHA:544503
HP:0011458	Abdominal symptom	5393	EXOSC9	OMIM:618065
HP:0011458	Abdominal symptom	5393	EXOSC9	ORPHA:2254
HP:0011458	Abdominal symptom	80308	FLAD1	OMIM:255100
HP:0011458	Abdominal symptom	246243	RNASEH1	ORPHA:329336
HP:0011458	Abdominal symptom	7355	SLC35A2	ORPHA:356961
HP:0011458	Abdominal symptom	25821	MTO1	OMIM:614702
HP:0011458	Abdominal symptom	118429	ANTXR2	ORPHA:2176
HP:0011458	Abdominal symptom	781	CACNA2D1	OMIM:620149
HP:0011458	Abdominal symptom	781	CACNA2D1	ORPHA:442835
HP:0011458	Abdominal symptom	10667	FARS2	OMIM:614946
HP:0011458	Abdominal symptom	51343	FZR1	OMIM:620145
HP:0011458	Abdominal symptom	51343	FZR1	ORPHA:442835
HP:0011458	Abdominal symptom	51506	UFC1	OMIM:618076
HP:0011458	Abdominal symptom	57465	TBC1D24	ORPHA:352596
HP:0011458	Abdominal symptom	57465	TBC1D24	ORPHA:79500
HP:0011458	Abdominal symptom	57465	TBC1D24	OMIM:615338
HP:0011458	Abdominal symptom	4552	MTRR	ORPHA:2169
HP:0011458	Abdominal symptom	79947	DHDDS	OMIM:613861
HP:0011458	Abdominal symptom	79947	DHDDS	ORPHA:442835
HP:0011458	Abdominal symptom	55788	LMBRD1	OMIM:277380
HP:0011458	Abdominal symptom	55788	LMBRD1	ORPHA:79284
HP:0011458	Abdominal symptom	80055	PGAP1	OMIM:615802
HP:0011458	Abdominal symptom	6662	SOX9	OMIM:114290
HP:0011458	Abdominal symptom	771	CA12	OMIM:143860
HP:0011458	Abdominal symptom	87178	PNPT1	ORPHA:319514
HP:0011458	Abdominal symptom	25839	COG4	ORPHA:263501
HP:0011458	Abdominal symptom	25839	COG4	OMIM:613489
HP:0011458	Abdominal symptom	1738	DLD	ORPHA:2394
HP:0011458	Abdominal symptom	1738	DLD	OMIM:246900
HP:0011458	Abdominal symptom	1272	CNTN1	OMIM:612540
HP:0011458	Abdominal symptom	23522	KAT6B	OMIM:606170
HP:0011458	Abdominal symptom	23522	KAT6B	ORPHA:85201
HP:0011458	Abdominal symptom	23522	KAT6B	OMIM:603736
HP:0011458	Abdominal symptom	23522	KAT6B	ORPHA:3047
HP:0011458	Abdominal symptom	114034	TOE1	OMIM:614969
HP:0011458	Abdominal symptom	9570	GOSR2	OMIM:620166
HP:0011458	Abdominal symptom	64087	MCCC2	OMIM:210210
HP:0011458	Abdominal symptom	54675	CRLS1	OMIM:620167
HP:0011458	Abdominal symptom	51057	WDPCP	OMIM:217085
HP:0011458	Abdominal symptom	501	ALDH7A1	ORPHA:3006
HP:0011458	Abdominal symptom	11212	PLPBP	ORPHA:3006
HP:0011458	Abdominal symptom	64919	BCL11B	OMIM:618092
HP:0011458	Abdominal symptom	23036	ZNF292	OMIM:619188
HP:0011458	Abdominal symptom	6885	MAP3K7	OMIM:157800
HP:0011458	Abdominal symptom	7170	TPM3	OMIM:255310
HP:0011458	Abdominal symptom	7170	TPM3	ORPHA:2020
HP:0011458	Abdominal symptom	7170	TPM3	ORPHA:171439
HP:0011458	Abdominal symptom	55636	CHD7	OMIM:214800
HP:0011458	Abdominal symptom	1906	EDN1	ORPHA:137888
HP:0011458	Abdominal symptom	5332	PLCB4	ORPHA:137888
HP:0011458	Abdominal symptom	5332	PLCB4	OMIM:614669
HP:0011458	Abdominal symptom	2773	GNAI3	ORPHA:137888
HP:0011458	Abdominal symptom	84947	SERAC1	OMIM:614739
HP:0011458	Abdominal symptom	54496	PRMT7	ORPHA:464288
HP:0011458	Abdominal symptom	54496	PRMT7	OMIM:617157
HP:0011458	Abdominal symptom	6234	RPS28	OMIM:606164
HP:0011458	Abdominal symptom	9653	HS2ST1	OMIM:619194
HP:0011458	Abdominal symptom	1798	DPAGT1	ORPHA:86309
HP:0011458	Abdominal symptom	26053	AUTS2	OMIM:615834
HP:0011458	Abdominal symptom	79753	SNIP1	OMIM:614501
HP:0011458	Abdominal symptom	3211	HOXB1	OMIM:614744
HP:0011458	Abdominal symptom	25977	NECAP1	OMIM:615833
HP:0011458	Abdominal symptom	25977	NECAP1	ORPHA:442835
HP:0011458	Abdominal symptom	10056	FARSB	OMIM:613658
HP:0011458	Abdominal symptom	54499	TMCO1	OMIM:213980
HP:0011458	Abdominal symptom	11128	POLR3A	OMIM:264090
HP:0011458	Abdominal symptom	11128	POLR3A	ORPHA:3455
HP:0011458	Abdominal symptom	55719	SLF2	OMIM:620184
HP:0011458	Abdominal symptom	2255	FGF10	OMIM:620193
HP:0011458	Abdominal symptom	79759	ZNF668	OMIM:620194
HP:0011458	Abdominal symptom	1737	DLAT	OMIM:245348
HP:0011458	Abdominal symptom	57459	GATAD2B	ORPHA:363686
HP:0011458	Abdominal symptom	440138	ALG11	OMIM:613661
HP:0011458	Abdominal symptom	440138	ALG11	ORPHA:280071
HP:0011458	Abdominal symptom	64135	IFIH1	OMIM:615846
HP:0011458	Abdominal symptom	10472	ZBTB18	OMIM:612337
HP:0011458	Abdominal symptom	9440	MED17	OMIM:613668
HP:0011458	Abdominal symptom	2535	FZD2	OMIM:164745
HP:0011458	Abdominal symptom	1374	CPT1A	OMIM:255120
HP:0011458	Abdominal symptom	5048	PAFAH1B1	ORPHA:95232
HP:0011458	Abdominal symptom	6314	ATXN7	ORPHA:94147
HP:0011458	Abdominal symptom	22907	DHX30	OMIM:617804
HP:0011458	Abdominal symptom	7351	UCP2	ORPHA:276556
HP:0011458	Abdominal symptom	57724	EPG5	ORPHA:1493
HP:0011458	Abdominal symptom	9230	RAB11B	OMIM:617807
HP:0011458	Abdominal symptom	54704	PDP1	OMIM:608782
HP:0011458	Abdominal symptom	55906	ZC4H2	OMIM:301041
HP:0011458	Abdominal symptom	55906	ZC4H2	OMIM:314580
HP:0011458	Abdominal symptom	91949	COG7	OMIM:608779
HP:0011458	Abdominal symptom	91949	COG7	ORPHA:79333
HP:0011458	Abdominal symptom	1305	COL13A1	OMIM:616720
HP:0011458	Abdominal symptom	1305	COL13A1	ORPHA:98914
HP:0011458	Abdominal symptom	29123	ANKRD11	ORPHA:2332
HP:0011458	Abdominal symptom	29123	ANKRD11	ORPHA:261250
HP:0011458	Abdominal symptom	10229	COQ7	OMIM:616733
HP:0011458	Abdominal symptom	54931	TRMT10C	OMIM:616974
HP:0011458	Abdominal symptom	2782	GNB1	OMIM:616973
HP:0011458	Abdominal symptom	2782	GNB1	ORPHA:488613
HP:0011458	Abdominal symptom	4893	NRAS	OMIM:613224
HP:0011458	Abdominal symptom	83479	DDX59	OMIM:174300
HP:0011458	Abdominal symptom	8085	KMT2D	ORPHA:2322
HP:0011458	Abdominal symptom	7403	KDM6A	ORPHA:2322
HP:0011458	Abdominal symptom	3097	HIVEP2	OMIM:616977
HP:0011458	Abdominal symptom	55033	FKBP14	OMIM:614557
HP:0011458	Abdominal symptom	2561	GABRB2	OMIM:617829
HP:0011458	Abdominal symptom	2561	GABRB2	ORPHA:442835
HP:0011458	Abdominal symptom	6833	ABCC8	ORPHA:276575
HP:0011458	Abdominal symptom	90161	HS6ST2	OMIM:301025
HP:0011458	Abdominal symptom	6597	SMARCA4	ORPHA:1465
HP:0011458	Abdominal symptom	6597	SMARCA4	OMIM:614609
HP:0011458	Abdominal symptom	8289	ARID1A	ORPHA:1465
HP:0011458	Abdominal symptom	8289	ARID1A	OMIM:614607
HP:0011458	Abdominal symptom	6602	SMARCD1	ORPHA:1465
HP:0011458	Abdominal symptom	57492	ARID1B	ORPHA:1465
HP:0011458	Abdominal symptom	6664	SOX11	ORPHA:1465
HP:0011458	Abdominal symptom	4915	NTRK2	OMIM:617830
HP:0011458	Abdominal symptom	4915	NTRK2	ORPHA:442835
HP:0011458	Abdominal symptom	80746	TSEN2	OMIM:612389
HP:0011458	Abdominal symptom	80746	TSEN2	ORPHA:2524
HP:0011458	Abdominal symptom	81620	CDT1	ORPHA:2554
HP:0011458	Abdominal symptom	81620	CDT1	OMIM:613804
HP:0011458	Abdominal symptom	5000	ORC4	ORPHA:2554
HP:0011458	Abdominal symptom	5000	ORC4	OMIM:613800
HP:0011458	Abdominal symptom	23594	ORC6	ORPHA:2554
HP:0011458	Abdominal symptom	23594	ORC6	OMIM:613803
HP:0011458	Abdominal symptom	8318	CDC45	ORPHA:2554
HP:0011458	Abdominal symptom	990	CDC6	ORPHA:2554
HP:0011458	Abdominal symptom	990	CDC6	OMIM:613805
HP:0011458	Abdominal symptom	4998	ORC1	ORPHA:2554
HP:0011458	Abdominal symptom	51053	GMNN	ORPHA:2554
HP:0011458	Abdominal symptom	51053	GMNN	OMIM:616835
HP:0011458	Abdominal symptom	54539	NDUFB11	ORPHA:2556
HP:0011458	Abdominal symptom	54539	NDUFB11	ORPHA:2609
HP:0011458	Abdominal symptom	1349	COX7B	ORPHA:2556
HP:0011458	Abdominal symptom	3052	HCCS	ORPHA:2556
HP:0011458	Abdominal symptom	5422	POLA1	OMIM:301030
HP:0011458	Abdominal symptom	10943	MSL3	OMIM:301032
HP:0011458	Abdominal symptom	5723	PSPH	ORPHA:79350
HP:0011458	Abdominal symptom	26227	PHGDH	ORPHA:79351
HP:0011458	Abdominal symptom	3868	KRT16	ORPHA:2309
HP:0011458	Abdominal symptom	3872	KRT17	ORPHA:2309
HP:0011458	Abdominal symptom	3853	KRT6A	ORPHA:2309
HP:0011458	Abdominal symptom	3854	KRT6B	ORPHA:2309
HP:0011458	Abdominal symptom	9343	EFTUD2	ORPHA:79113
HP:0011458	Abdominal symptom	9997	SCO2	OMIM:604377
HP:0011458	Abdominal symptom	10664	CTCF	ORPHA:363611
HP:0011458	Abdominal symptom	10664	CTCF	OMIM:615502
HP:0011458	Abdominal symptom	8270	LAGE3	OMIM:301006
HP:0011458	Abdominal symptom	5167	ENPP1	ORPHA:51608
HP:0011458	Abdominal symptom	368	ABCC6	ORPHA:51608
HP:0011458	Abdominal symptom	11222	MRPL3	OMIM:614582
HP:0011458	Abdominal symptom	8929	PHOX2B	OMIM:209880
HP:0011458	Abdominal symptom	81689	ISCA1	OMIM:617613
HP:0011458	Abdominal symptom	1213	CLTC	OMIM:617854
HP:0011458	Abdominal symptom	1213	CLTC	ORPHA:442835
HP:0011458	Abdominal symptom	9894	TELO2	ORPHA:488642
HP:0011458	Abdominal symptom	4329	ALDH6A1	OMIM:614105
HP:0011458	Abdominal symptom	80152	CENPT	OMIM:618702
HP:0011458	Abdominal symptom	3425	IDUA	ORPHA:93473
HP:0011458	Abdominal symptom	8936	WASF1	OMIM:618707
HP:0011458	Abdominal symptom	1718	DHCR24	ORPHA:35107
HP:0011458	Abdominal symptom	55617	TASP1	OMIM:618950
HP:0011458	Abdominal symptom	116461	TSEN15	ORPHA:2524
HP:0011458	Abdominal symptom	79042	TSEN34	ORPHA:2524
HP:0011458	Abdominal symptom	51091	SEPSECS	ORPHA:2524
HP:0011458	Abdominal symptom	51816	ADA2	OMIM:615688
HP:0011458	Abdominal symptom	2893	GRIA4	OMIM:617864
HP:0011458	Abdominal symptom	60482	SLC5A7	ORPHA:98914
HP:0011458	Abdominal symptom	60482	SLC5A7	OMIM:617143
HP:0011458	Abdominal symptom	4649	MYO9A	ORPHA:98914
HP:0011458	Abdominal symptom	4649	MYO9A	OMIM:618198
HP:0011458	Abdominal symptom	1103	CHAT	ORPHA:98914
HP:0011458	Abdominal symptom	6576	SLC25A1	ORPHA:98914
HP:0011458	Abdominal symptom	6576	SLC25A1	OMIM:615182
HP:0011458	Abdominal symptom	375790	AGRN	ORPHA:98914
HP:0011458	Abdominal symptom	127833	SYT2	ORPHA:98914
HP:0011458	Abdominal symptom	6616	SNAP25	ORPHA:98914
HP:0011458	Abdominal symptom	57107	PDSS2	ORPHA:255249
HP:0011458	Abdominal symptom	57107	PDSS2	OMIM:614652
HP:0011458	Abdominal symptom	4038	LRP4	OMIM:616304
HP:0011458	Abdominal symptom	10274	STAG1	OMIM:617635
HP:0011458	Abdominal symptom	10274	STAG1	ORPHA:502434
HP:0011458	Abdominal symptom	5879	RAC1	ORPHA:500159
HP:0011458	Abdominal symptom	26123	TCTN3	ORPHA:2753
HP:0011458	Abdominal symptom	71	ACTG1	ORPHA:2995
HP:0011458	Abdominal symptom	60	ACTB	ORPHA:2995
HP:0011458	Abdominal symptom	5087	PBX1	OMIM:617641
HP:0011458	Abdominal symptom	5087	PBX1	ORPHA:97362
HP:0011458	Abdominal symptom	1140	CHRNB1	OMIM:616314
HP:0011458	Abdominal symptom	3852	KRT5	ORPHA:79396
HP:0011458	Abdominal symptom	3861	KRT14	ORPHA:79396
HP:0011458	Abdominal symptom	246329	STAC3	OMIM:255995
HP:0011458	Abdominal symptom	246329	STAC3	ORPHA:168572
HP:0011458	Abdominal symptom	8036	SHOC2	OMIM:607721
HP:0011458	Abdominal symptom	25915	NDUFAF3	ORPHA:2609
HP:0011458	Abdominal symptom	25915	NDUFAF3	OMIM:618240
HP:0011458	Abdominal symptom	51103	NDUFAF1	ORPHA:2609
HP:0011458	Abdominal symptom	91942	NDUFAF2	ORPHA:2609
HP:0011458	Abdominal symptom	91942	NDUFAF2	OMIM:618233
HP:0011458	Abdominal symptom	51300	TIMMDC1	ORPHA:2609
HP:0011458	Abdominal symptom	4716	NDUFB10	ORPHA:2609
HP:0011458	Abdominal symptom	4723	NDUFV1	ORPHA:2609
HP:0011458	Abdominal symptom	55572	FOXRED1	ORPHA:2609
HP:0011458	Abdominal symptom	55572	FOXRED1	OMIM:618241
HP:0011458	Abdominal symptom	284184	NDUFAF8	ORPHA:2609
HP:0011458	Abdominal symptom	55863	TMEM126B	ORPHA:2609
HP:0011458	Abdominal symptom	4537	MT-ND3	ORPHA:2609
HP:0011458	Abdominal symptom	4729	NDUFV2	ORPHA:2609
HP:0011458	Abdominal symptom	4729	NDUFV2	OMIM:618229
HP:0011458	Abdominal symptom	4694	NDUFA1	ORPHA:2609
HP:0011458	Abdominal symptom	4720	NDUFS2	ORPHA:2609
HP:0011458	Abdominal symptom	4724	NDUFS4	ORPHA:2609
HP:0011458	Abdominal symptom	4726	NDUFS6	ORPHA:2609
HP:0011458	Abdominal symptom	4726	NDUFS6	OMIM:618232
HP:0011458	Abdominal symptom	4728	NDUFS8	ORPHA:2609
HP:0011458	Abdominal symptom	4728	NDUFS8	OMIM:618222
HP:0011458	Abdominal symptom	4722	NDUFS3	ORPHA:2609
HP:0011458	Abdominal symptom	79133	NDUFAF5	ORPHA:2609
HP:0011458	Abdominal symptom	79133	NDUFAF5	OMIM:618238
HP:0011458	Abdominal symptom	126328	NDUFA11	ORPHA:2609
HP:0011458	Abdominal symptom	4709	NDUFB3	ORPHA:2609
HP:0011458	Abdominal symptom	4709	NDUFB3	OMIM:618246
HP:0011458	Abdominal symptom	80224	NUBPL	ORPHA:2609
HP:0011458	Abdominal symptom	29078	NDUFAF4	ORPHA:2609
HP:0011458	Abdominal symptom	374291	NDUFS7	ORPHA:2609
HP:0011458	Abdominal symptom	374291	NDUFS7	OMIM:618224
HP:0011458	Abdominal symptom	4700	NDUFA6	ORPHA:2609
HP:0011458	Abdominal symptom	4700	NDUFA6	OMIM:618253
HP:0011458	Abdominal symptom	4536	MT-ND2	ORPHA:2609
HP:0011458	Abdominal symptom	4719	NDUFS1	ORPHA:2609
HP:0011458	Abdominal symptom	4715	NDUFB9	ORPHA:2609
HP:0011458	Abdominal symptom	8367	H4C5	OMIM:619950
HP:0011458	Abdominal symptom	104	ADARB1	OMIM:618862
HP:0011458	Abdominal symptom	8294	H4C9	OMIM:619951
HP:0011458	Abdominal symptom	57128	LYRM4	OMIM:615595
HP:0011458	Abdominal symptom	3703	STT3A	OMIM:615596
HP:0011458	Abdominal symptom	3703	STT3A	ORPHA:370921
HP:0011458	Abdominal symptom	8425	LTBP4	OMIM:613177
HP:0011458	Abdominal symptom	1161	ERCC8	ORPHA:90324
HP:0011458	Abdominal symptom	2074	ERCC6	ORPHA:90324
HP:0011458	Abdominal symptom	6016	RIT1	OMIM:615355
HP:0011458	Abdominal symptom	10054	UBA2	OMIM:619959
HP:0011458	Abdominal symptom	51126	NAA20	OMIM:619717
HP:0011458	Abdominal symptom	60684	TRAPPC11	OMIM:615356
HP:0011458	Abdominal symptom	1355	COX15	OMIM:615119
HP:0011458	Abdominal symptom	3008	H1-4	OMIM:617537
HP:0011458	Abdominal symptom	84942	WDR73	OMIM:251300
HP:0011458	Abdominal symptom	79848	CSPP1	ORPHA:397715
HP:0011458	Abdominal symptom	9786	KIAA0586	ORPHA:397715
HP:0011458	Abdominal symptom	51111	KMT5B	OMIM:617788
HP:0011458	Abdominal symptom	80155	NAA15	OMIM:617787
HP:0011458	Abdominal symptom	9200	HACD1	OMIM:619967
HP:0011458	Abdominal symptom	9200	HACD1	ORPHA:2020
HP:0011458	Abdominal symptom	5189	PEX1	OMIM:214100
HP:0011458	Abdominal symptom	6660	SOX5	ORPHA:313892
HP:0011458	Abdominal symptom	535	ATP6V0A1	OMIM:619971
HP:0011458	Abdominal symptom	10584	COLEC10	OMIM:248340
HP:0011458	Abdominal symptom	284058	KANSL1	ORPHA:363958
HP:0011458	Abdominal symptom	284058	KANSL1	ORPHA:363965
HP:0011458	Abdominal symptom	55870	ASH1L	OMIM:617796
HP:0011458	Abdominal symptom	91869	RFT1	ORPHA:244310
HP:0011458	Abdominal symptom	91869	RFT1	OMIM:612015
HP:0011458	Abdominal symptom	9692	PRORP	OMIM:619737
HP:0011458	Abdominal symptom	816	CAMK2B	OMIM:617799
HP:0011458	Abdominal symptom	7528	YY1	OMIM:617557
HP:0011458	Abdominal symptom	9581	PREPL	OMIM:616224
HP:0011458	Abdominal symptom	9326	ZNHIT3	ORPHA:2836
HP:0011458	Abdominal symptom	547	KIF1A	ORPHA:2836
HP:0011458	Abdominal symptom	1183	CLCN4	ORPHA:485350
HP:0011458	Abdominal symptom	8560	DEGS1	OMIM:618404
HP:0011458	Abdominal symptom	1656	DDX6	OMIM:618653
HP:0011458	Abdominal symptom	54872	PIGG	ORPHA:488635
HP:0011458	Abdominal symptom	2783	GNB2	OMIM:619503
HP:0011458	Abdominal symptom	4632	MYL1	OMIM:618414
HP:0011458	Abdominal symptom	26057	ANKRD17	OMIM:619504
HP:0011458	Abdominal symptom	79731	NARS2	OMIM:616239
HP:0011458	Abdominal symptom	3737	KCNA2	ORPHA:442835
HP:0011458	Abdominal symptom	8120	AP3B2	ORPHA:442835
HP:0011458	Abdominal symptom	523	ATP6V1A	ORPHA:442835
HP:0011458	Abdominal symptom	523	ATP6V1A	ORPHA:357074
HP:0011458	Abdominal symptom	10991	SLC38A3	ORPHA:442835
HP:0011458	Abdominal symptom	22906	TRAK1	ORPHA:442835
HP:0011458	Abdominal symptom	2566	GABRG2	ORPHA:442835
HP:0011458	Abdominal symptom	1917	EEF1A2	ORPHA:442835
HP:0011458	Abdominal symptom	8831	SYNGAP1	ORPHA:442835
HP:0011458	Abdominal symptom	7532	YWHAG	ORPHA:442835
HP:0011458	Abdominal symptom	79876	UBA5	ORPHA:442835
HP:0011458	Abdominal symptom	79876	UBA5	OMIM:617132
HP:0011458	Abdominal symptom	6328	SCN3A	ORPHA:442835
HP:0011458	Abdominal symptom	2558	GABRA5	ORPHA:442835
HP:0011458	Abdominal symptom	2906	GRIN2D	ORPHA:442835
HP:0011458	Abdominal symptom	2906	GRIN2D	OMIM:617162
HP:0011458	Abdominal symptom	116150	NUS1	ORPHA:442835
HP:0011458	Abdominal symptom	10659	CELF2	ORPHA:442835
HP:0011458	Abdominal symptom	774	CACNA1B	ORPHA:442835
HP:0011458	Abdominal symptom	774	CACNA1B	OMIM:618497
HP:0011458	Abdominal symptom	23334	SZT2	ORPHA:442835
HP:0011458	Abdominal symptom	51412	ACTL6B	ORPHA:442835
HP:0011458	Abdominal symptom	348980	HCN1	ORPHA:442835
HP:0011458	Abdominal symptom	6506	SLC1A2	ORPHA:442835
HP:0011458	Abdominal symptom	6506	SLC1A2	OMIM:617105
HP:0011458	Abdominal symptom	3745	KCNB1	ORPHA:442835
HP:0011458	Abdominal symptom	284111	SLC13A5	ORPHA:442835
HP:0011458	Abdominal symptom	16	AARS1	ORPHA:442835
HP:0011458	Abdominal symptom	6334	SCN8A	ORPHA:442835
HP:0011458	Abdominal symptom	22866	CNKSR2	ORPHA:442835
HP:0011458	Abdominal symptom	9568	GABBR2	ORPHA:442835
HP:0011458	Abdominal symptom	9568	GABBR2	ORPHA:3095
HP:0011458	Abdominal symptom	2555	GABRA2	ORPHA:442835
HP:0011458	Abdominal symptom	55152	DALRD3	ORPHA:442835
HP:0011458	Abdominal symptom	26999	CYFIP2	ORPHA:442835
HP:0011458	Abdominal symptom	25973	PARS2	ORPHA:442835
HP:0011458	Abdominal symptom	23097	CDK19	ORPHA:442835
HP:0011458	Abdominal symptom	64801	ARV1	ORPHA:442835
HP:0011458	Abdominal symptom	2257	FGF12	ORPHA:442835
HP:0011458	Abdominal symptom	2257	FGF12	OMIM:617166
HP:0011458	Abdominal symptom	5530	PPP3CA	ORPHA:442835
HP:0011458	Abdominal symptom	5530	PPP3CA	OMIM:617711
HP:0011458	Abdominal symptom	8642	DCHS1	OMIM:601390
HP:0011458	Abdominal symptom	1182	CLCN3	OMIM:619512
HP:0011458	Abdominal symptom	1182	CLCN3	OMIM:619517
HP:0011458	Abdominal symptom	3043	HBB	ORPHA:231214
HP:0011458	Abdominal symptom	3043	HBB	ORPHA:231226
HP:0011458	Abdominal symptom	7862	BRPF1	OMIM:617333
HP:0011458	Abdominal symptom	3481	IGF2	OMIM:616489
HP:0011458	Abdominal symptom	8021	NUP214	OMIM:618426
HP:0011458	Abdominal symptom	8364	H4C3	OMIM:619758
HP:0011458	Abdominal symptom	8659	ALDH4A1	ORPHA:79101
HP:0011458	Abdominal symptom	23474	ETHE1	OMIM:602473
HP:0011458	Abdominal symptom	415	ARSL	ORPHA:79345
HP:0011458	Abdominal symptom	145258	GSC	OMIM:602471
HP:0011458	Abdominal symptom	4247	MGAT2	ORPHA:79329
HP:0011458	Abdominal symptom	7750	ZMYM2	OMIM:619522
HP:0011458	Abdominal symptom	51341	ZBTB7A	OMIM:619769
HP:0011458	Abdominal symptom	4626	MYH8	OMIM:158300
HP:0011458	Abdominal symptom	5373	PMM2	ORPHA:79318
HP:0011458	Abdominal symptom	55120	FANCL	OMIM:614083
HP:0011458	Abdominal symptom	10463	SLC30A9	OMIM:617595
HP:0011458	Abdominal symptom	51227	PIGP	OMIM:617599
HP:0011458	Abdominal symptom	10516	FBLN5	ORPHA:90348
HP:0011458	Abdominal symptom	5832	ALDH18A1	ORPHA:90348
HP:0011458	Abdominal symptom	5832	ALDH18A1	OMIM:616603
HP:0011458	Abdominal symptom	3785	KCNQ2	ORPHA:439218
HP:0011458	Abdominal symptom	1107	CHD3	OMIM:618205
HP:0011458	Abdominal symptom	29929	ALG6	ORPHA:79320
HP:0011458	Abdominal symptom	10195	ALG3	ORPHA:79321
HP:0011458	Abdominal symptom	79087	ALG12	ORPHA:79324
HP:0011458	Abdominal symptom	79087	ALG12	OMIM:607143
HP:0011458	Abdominal symptom	27247	NFU1	OMIM:605711
HP:0011458	Abdominal symptom	57505	AARS2	OMIM:614096
HP:0011458	Abdominal symptom	8295	TRRAP	OMIM:618454
HP:0011458	Abdominal symptom	6927	HNF1A	ORPHA:324575
HP:0011458	Abdominal symptom	81570	CLPB	OMIM:616271
HP:0011458	Abdominal symptom	81570	CLPB	ORPHA:445038
HP:0011458	Abdominal symptom	1892	ECHS1	OMIM:616277
HP:0011458	Abdominal symptom	3658	IREB2	OMIM:618451
HP:0011458	Abdominal symptom	5587	PRKD1	OMIM:617364
HP:0011458	Abdominal symptom	6857	SYT1	OMIM:618218
HP:0011458	Abdominal symptom	6857	SYT1	ORPHA:522077
HP:0011458	Abdominal symptom	79751	SLC25A22	ORPHA:1935
HP:0011458	Abdominal symptom	5076	PAX2	ORPHA:97362
HP:0011458	Abdominal symptom	6492	SIM1	ORPHA:369873
HP:0011458	Abdominal symptom	51422	PRKAG2	OMIM:261740
HP:0011458	Abdominal symptom	9759	HDAC4	OMIM:619797
HP:0011458	Abdominal symptom	9759	HDAC4	OMIM:600430
HP:0011458	Abdominal symptom	30000	TNPO2	OMIM:619556
HP:0011458	Abdominal symptom	54892	NCAPG2	OMIM:618460
HP:0011458	Abdominal symptom	112	ADCY6	OMIM:616287
HP:0011458	Abdominal symptom	85476	GFM1	OMIM:609060
HP:0011458	Abdominal symptom	22854	NTNG1	ORPHA:3095
HP:0011458	Abdominal symptom	2581	GALC	ORPHA:206443
HP:0011458	Abdominal symptom	2581	GALC	ORPHA:206436
HP:0011458	Abdominal symptom	26275	HIBCH	ORPHA:88639
HP:0011458	Abdominal symptom	26275	HIBCH	OMIM:250620
HP:0011458	Abdominal symptom	4695	NDUFA2	OMIM:618235
HP:0011458	Abdominal symptom	79868	ALG13	OMIM:300884
HP:0011458	Abdominal symptom	29998	BICRA	OMIM:619325
HP:0011458	Abdominal symptom	6651	SON	OMIM:617140
HP:0011458	Abdominal symptom	23314	SATB2	ORPHA:251019
HP:0011458	Abdominal symptom	29968	PSAT1	OMIM:610992
HP:0011458	Abdominal symptom	6329	SCN4A	OMIM:168300
HP:0011458	Abdominal symptom	6329	SCN4A	ORPHA:684
HP:0011458	Abdominal symptom	443	ASPA	ORPHA:314911
HP:0011458	Abdominal symptom	10166	SLC25A15	ORPHA:415
HP:0011458	Abdominal symptom	4976	OPA1	ORPHA:98673
HP:0011458	Abdominal symptom	57551	TAOK1	OMIM:619575
HP:0011458	Abdominal symptom	56915	EXOSC5	OMIM:619576
HP:0011458	Abdominal symptom	2530	FUT8	OMIM:618005
HP:0011458	Abdominal symptom	112939	NACC1	OMIM:617393
HP:0011458	Abdominal symptom	8260	NAA10	OMIM:300855
HP:0011458	Abdominal symptom	7965	AIMP2	OMIM:618006
HP:0011458	Abdominal symptom	29920	PYCR2	ORPHA:481152
HP:0011458	Abdominal symptom	3913	LAMB2	OMIM:609049
HP:0011458	Abdominal symptom	372	ARCN1	OMIM:617164
HP:0011458	Abdominal symptom	3977	LIFR	OMIM:601559
HP:0011458	Abdominal symptom	51305	KCNK9	ORPHA:166108
HP:0011458	Abdominal symptom	60386	SLC25A19	ORPHA:99742
HP:0011458	Abdominal symptom	11340	EXOSC8	OMIM:616081
HP:0011458	Abdominal symptom	11340	EXOSC8	ORPHA:2254
HP:0011458	Abdominal symptom	3975	LHX1	ORPHA:261265
HP:0011458	Abdominal symptom	6928	HNF1B	ORPHA:261265
HP:0011458	Abdominal symptom	57003	CCDC47	OMIM:618268
HP:0011458	Abdominal symptom	35	ACADS	OMIM:201470
HP:0011458	Abdominal symptom	35	ACADS	ORPHA:26792
HP:0011458	Abdominal symptom	526	ATP6V1B2	ORPHA:79500
HP:0011458	Abdominal symptom	374354	NHLRC2	OMIM:618278
HP:0011458	Abdominal symptom	6566	SLC16A1	OMIM:616095
HP:0011458	Abdominal symptom	23287	AGTPBP1	OMIM:618276
HP:0011458	Abdominal symptom	23287	AGTPBP1	ORPHA:2254
HP:0011458	Abdominal symptom	23529	CLCF1	OMIM:610313
HP:0011458	Abdominal symptom	23529	CLCF1	ORPHA:1545
HP:0011458	Abdominal symptom	498	ATP5F1A	OMIM:620358
HP:0011458	Abdominal symptom	118924	FRA10AC1	OMIM:620113
HP:0011458	Abdominal symptom	8911	CACNA1I	OMIM:620114
HP:0011458	Abdominal symptom	1583	CYP11A1	ORPHA:168558
HP:0011458	Abdominal symptom	1583	CYP11A1	ORPHA:289548
HP:0011458	Abdominal symptom	55005	RMND1	OMIM:614922
HP:0011458	Abdominal symptom	124454	EARS2	OMIM:614924
HP:0011458	Abdominal symptom	1719	DHFR	OMIM:613839
HP:0011458	Abdominal symptom	23299	BICD2	OMIM:618291
HP:0011458	Abdominal symptom	4914	NTRK1	ORPHA:642
HP:0011458	Abdominal symptom	129285	PPP1R21	OMIM:619383
HP:0011458	Abdominal symptom	27161	AGO2	OMIM:619149
HP:0011458	Abdominal symptom	221927	BRAT1	OMIM:618056
HP:0011458	Abdominal symptom	221927	BRAT1	OMIM:614498
HP:0011458	Abdominal symptom	10535	RNASEH2A	OMIM:610333
HP:0011458	Abdominal symptom	54938	SARS2	OMIM:613845
HP:0011458	Abdominal symptom	27183	VPS4A	OMIM:619273
HP:0011458	Abdominal symptom	10128	LRPPRC	OMIM:220111
HP:0011458	Abdominal symptom	10046	MAMLD1	ORPHA:456328
HP:0011458	Abdominal symptom	4534	MTM1	ORPHA:456328
HP:0011458	Abdominal symptom	55503	TRPV6	OMIM:618188
HP:0011458	Abdominal symptom	347734	SLC35B2	OMIM:620269
HP:0011458	Abdominal symptom	1119	CHKA	OMIM:620023
HP:0011458	Abdominal symptom	8496	PPFIBP1	OMIM:620024
HP:0011458	Abdominal symptom	51218	GLRX5	ORPHA:401866
HP:0011458	Abdominal symptom	58	ACTA1	ORPHA:171436
HP:0011458	Abdominal symptom	58	ACTA1	ORPHA:2020
HP:0011458	Abdominal symptom	58	ACTA1	ORPHA:171439
HP:0011458	Abdominal symptom	7169	TPM2	ORPHA:171436
HP:0011458	Abdominal symptom	7169	TPM2	ORPHA:2020
HP:0011458	Abdominal symptom	7169	TPM2	ORPHA:171439
HP:0011458	Abdominal symptom	10324	KLHL41	ORPHA:171436
HP:0011458	Abdominal symptom	10324	KLHL41	ORPHA:171439
HP:0011458	Abdominal symptom	1073	CFL2	ORPHA:171436
HP:0011458	Abdominal symptom	9442	MED27	OMIM:619286
HP:0011458	Abdominal symptom	55163	PNPO	ORPHA:79096
HP:0011458	Abdominal symptom	1340	COX6B1	OMIM:619051
HP:0011458	Abdominal symptom	51360	MBTPS2	ORPHA:2273
HP:0011458	Abdominal symptom	100131801	PET100	OMIM:619055
HP:0011458	Abdominal symptom	9739	SETD1A	OMIM:619056
HP:0011458	Abdominal symptom	93986	FOXP2	ORPHA:209908
HP:0011458	Abdominal symptom	57190	SELENON	ORPHA:2020
HP:0011458	Abdominal symptom	4633	MYL2	ORPHA:2020
HP:0011458	Abdominal symptom	3679	ITGA7	ORPHA:2020
HP:0011458	Abdominal symptom	51776	MAP3K20	ORPHA:2020
HP:0011458	Abdominal symptom	4212	MEIS2	OMIM:600987
HP:0011458	Abdominal symptom	4338	MOCS2	OMIM:252160
HP:0011458	Abdominal symptom	5826	ABCD4	OMIM:614857
HP:0011458	Abdominal symptom	1267	CNP	OMIM:619071
HP:0011458	Abdominal symptom	2627	GATA6	ORPHA:2255
HP:0011458	Abdominal symptom	51010	EXOSC3	ORPHA:2254
HP:0011458	Abdominal symptom	51010	EXOSC3	OMIM:614678
HP:0011458	Abdominal symptom	7443	VRK1	ORPHA:2254
HP:0011458	Abdominal symptom	91137	SLC25A46	ORPHA:2254
HP:0011458	Abdominal symptom	9289	ADGRG1	ORPHA:98889
HP:0011458	Abdominal symptom	27286	SRPX2	ORPHA:98889
HP:0011458	Abdominal symptom	83475	DOHH	OMIM:620066
HP:0011458	Abdominal symptom	84992	PIGY	OMIM:616809
HP:0011458	Abdominal symptom	10236	HNRNPR	OMIM:620073
HP:0011458	Abdominal symptom	51611	DPH5	OMIM:620070
HP:0011458	Abdominal symptom	8905	AP1S2	ORPHA:85329
HP:0011458	Abdominal symptom	6558	SLC12A2	OMIM:619080
HP:0011458	Abdominal symptom	6628	SNRPB	ORPHA:1393
HP:0011458	Abdominal symptom	4306	NR3C2	OMIM:177735
HP:0011458	Abdominal symptom	55670	PEX26	OMIM:614872
HP:0011458	Abdominal symptom	7025	NR2F1	OMIM:615722
HP:0011458	Abdominal symptom	25828	TXN2	OMIM:616811
HP:0011458	Abdominal symptom	3187	HNRNPH1	OMIM:620083
HP:0011458	Abdominal symptom	5194	PEX13	OMIM:614885
HP:0011458	Abdominal symptom	8504	PEX3	OMIM:614882
HP:0011458	Abdominal symptom	2261	FGFR3	OMIM:100800
HP:0011458	Abdominal symptom	84665	MYPN	ORPHA:171439
HP:0011458	Abdominal symptom	390594	KBTBD13	ORPHA:171439
HP:0011458	Abdominal symptom	50628	GEMIN4	OMIM:617913
HP:0011458	Abdominal symptom	55681	SCYL2	ORPHA:1143
HP:0011458	Abdominal symptom	84570	COL25A1	ORPHA:1143
HP:0011458	Abdominal symptom	57222	ERGIC1	ORPHA:1143
HP:0011458	Abdominal symptom	5195	PEX14	OMIM:614887
HP:0011458	Abdominal symptom	1487	CTBP1	OMIM:617915
HP:0011458	Abdominal symptom	9775	EIF4A3	OMIM:268305
HP:0011458	Abdominal symptom	667	DST	OMIM:614653
HP:0011458	Abdominal symptom	10243	GPHN	OMIM:615501
HP:0011458	Abdominal symptom	57017	COQ9	OMIM:614654
HP:0011458	Abdominal symptom	80199	FUZ	ORPHA:1136
HP:0011458	Abdominal symptom	63895	PIEZO2	ORPHA:2461
HP:0011458	Abdominal symptom	100151683	RNU4ATAC	OMIM:210710
HP:0011458	Abdominal symptom	29926	GMPPA	OMIM:615510
HP:0011458	Abdominal symptom	113179	ADAT3	ORPHA:363528
HP:0011458	Abdominal symptom	10157	AASS	ORPHA:2203
HP:0011458	Abdominal symptom	3033	HADH	OMIM:609975
HP:0011458	Abdominal symptom	2720	GLB1	ORPHA:79255
HP:0011458	Abdominal symptom	2592	GALT	ORPHA:79239
HP:0011458	Abdominal symptom	9512	PMPCB	OMIM:617954
HP:0011458	Abdominal symptom	10352	WARS2	OMIM:617710
HP:0011458	Abdominal symptom	2058	EPRS1	OMIM:617951
HP:0011458	Abdominal symptom	9361	LONP1	ORPHA:79243
HP:0011458	Abdominal symptom	5160	PDHA1	ORPHA:79243
HP:0011458	Abdominal symptom	5718	PSMD12	ORPHA:529962
HP:0011458	Abdominal symptom	5718	PSMD12	OMIM:617516
HP:0011458	Abdominal symptom	2186	BPTF	ORPHA:529962
HP:0011458	Abdominal symptom	54664	TMEM106B	OMIM:617964
HP:0011458	Abdominal symptom	2475	MTOR	OMIM:616638
HP:0011458	Abdominal symptom	79633	FAT4	OMIM:615546
HP:0011458	Abdominal symptom	2584	GALK1	ORPHA:79237
HP:0011458	Abdominal symptom	112858	TP53RK	OMIM:617730
HP:0011458	Abdominal symptom	11019	LIAS	OMIM:614462
HP:0011458	Abdominal symptom	51501	HIKESHI	OMIM:616881
HP:0011458	Abdominal symptom	10815	CPLX1	OMIM:617976
HP:0011458	Abdominal symptom	3747	KCNC2	OMIM:619913
HP:0011458	Abdominal symptom	29957	SLC25A24	OMIM:612289
HP:0011458	Abdominal symptom	3704	ITPA	OMIM:616647
HP:0011458	Abdominal symptom	26047	CNTNAP2	ORPHA:163681
HP:0011458	Abdominal symptom	51124	IER3IP1	OMIM:614231
HP:0011458	Abdominal symptom	54870	QRICH1	OMIM:617982
HP:0011458	Abdominal symptom	4780	NFE2L2	OMIM:617744
HP:0011458	Abdominal symptom	55704	CCDC88A	OMIM:617507
HP:0011458	Abdominal symptom	5500	PPP1CB	OMIM:617506
HP:0011458	Abdominal symptom	4841	NONO	ORPHA:466791
HP:0011458	Abdominal symptom	95	ACY1	OMIM:609924
HP:0011458	Abdominal symptom	23545	ATP6V0A2	ORPHA:357074
HP:0011458	Abdominal symptom	529	ATP6V1E1	ORPHA:357074
HP:0011458	Abdominal symptom	440	ASNS	OMIM:615574
HP:0011458	Abdominal symptom	200205	IBA57	OMIM:615330
HP:0011458	Abdominal symptom	2890	GRIA1	OMIM:619931
HP:0011458	Abdominal symptom	25974	MMACHC	ORPHA:79282
HP:0011458	Abdominal symptom	9439	MED23	OMIM:614249
HP:0011458	Abdominal symptom	5430	POLR2A	OMIM:618603
HP:0011458	Abdominal symptom	57731	SPTBN4	OMIM:617519
HP:0011458	Abdominal symptom	9244	CRLF1	ORPHA:1545
HP:0011458	Abdominal symptom	37	ACADVL	ORPHA:26793
HP:0011458	Abdominal symptom	18	ABAT	OMIM:613163
HP:0011458	Abdominal symptom	92935	MARS2	OMIM:616430
HP:0011458	Abdominal symptom	79587	CARS2	OMIM:616672
HP:0011458	Abdominal symptom	4858	NOVA2	OMIM:618859
HP:0011458	Abdominal symptom	25871	NEPRO	OMIM:618853
HP:0011458	Abdominal symptom	58499	ZNF462	OMIM:618619
HP:0011458	Abdominal symptom	9990	SLC12A6	OMIM:218000
HP:0011458	Abdominal symptom	3476	IGBP1	OMIM:300472
HP:0011458	Abdominal symptom	6095	RORA	OMIM:618060
HP:0011458	Abdominal symptom	26115	TANC2	OMIM:618906
HP:0011458	Abdominal symptom	411	ARSB	OMIM:253200
HP:0011458	Abdominal symptom	3020	H3-3A	OMIM:619720
HP:0011458	Abdominal symptom	3021	H3-3B	OMIM:619721
HP:0011458	Abdominal symptom	4953	ODC1	ORPHA:544488
HP:0011458	Abdominal symptom	28960	DCPS	OMIM:616459
HP:0011458	Abdominal symptom	55768	NGLY1	ORPHA:404454
HP:0011458	Abdominal symptom	3899	AFF3	OMIM:619297
HP:0011458	Abdominal symptom	84188	FAR1	OMIM:619338
HP:0011458	Abdominal symptom	23317	DNAJC13	ORPHA:411602
HP:0011458	Abdominal symptom	1981	EIF4G1	ORPHA:411602
HP:0011458	Abdominal symptom	55737	VPS35	ORPHA:411602
HP:0011458	Abdominal symptom	26058	GIGYF2	ORPHA:411602
HP:0011458	Abdominal symptom	9969	MED13	OMIM:618009
HP:0011458	Abdominal symptom	84823	LMNB2	OMIM:619180
HP:0011458	Abdominal symptom	25	ABL1	OMIM:617602
HP:0011458	Abdominal symptom	55186	SLC25A36	OMIM:620211
HP:0011458	Abdominal symptom	5518	PPP2R1A	OMIM:616362
HP:0011458	Abdominal symptom	65109	UPF3B	OMIM:300676
HP:0011458	Abdominal symptom	8405	SPOP	OMIM:618829
HP:0011458	Abdominal symptom	7841	MOGS	ORPHA:79330
HP:0011458	Abdominal symptom	9338	TCEAL1	OMIM:301094
HP:0011458	Abdominal symptom	7030	TFE3	OMIM:301066
HP:0011458	Abdominal symptom	1984	EIF5A	OMIM:619376
HP:0011458	Abdominal symptom	64321	SOX17	OMIM:613674
HP:0011458	Abdominal symptom	23219	FBXO28	OMIM:619777
HP:0011458	Abdominal symptom	7319	UBE2A	ORPHA:163956
HP:0011458	Abdominal symptom	5062	PAK2	OMIM:618458
HP:0011458	Abdominal symptom	81603	TRIM8	OMIM:619428
HP:0011458	Abdominal symptom	27178	IL37	OMIM:619398
HP:0011458	Abdominal symptom	6868	ADAM17	OMIM:614328
HP:0011458	Abdominal symptom	6868	ADAM17	ORPHA:294023
HP:0011458	Abdominal symptom	10095	ARPC1B	OMIM:617718
HP:0011458	Abdominal symptom	7040	TGFB1	OMIM:618213
HP:0011458	Abdominal symptom	1235	CCR6	ORPHA:220393
HP:0011458	Abdominal symptom	1490	CCN2	ORPHA:220393
HP:0011458	Abdominal symptom	857	CAV1	ORPHA:220393
HP:0011458	Abdominal symptom	3123	HLA-DRB1	ORPHA:220393
HP:0011458	Abdominal symptom	2019	EN1	OMIM:619218
HP:0011458	Abdominal symptom	126792	B3GALT6	OMIM:609465
HP:0011458	Abdominal symptom	59067	IL21	OMIM:615767
HP:0011458	Abdominal symptom	5700	PSMC1	OMIM:620071
HP:0011458	Abdominal symptom	10043	TOM1	OMIM:619510
HP:0011458	Abdominal symptom	9578	CDC42BPB	OMIM:619841
HP:0011458	Abdominal symptom	8565	YARS1	OMIM:619418
HP:0011458	Abdominal symptom	56479	KCNQ5	OMIM:617601
HP:0011458	Abdominal symptom	2799	GNS	OMIM:252940
HP:0011458	Abdominal symptom	1890	TYMP	OMIM:603041
HP:0011458	Abdominal symptom	5428	POLG	OMIM:603041
HP:0011458	Abdominal symptom	55037	PTCD3	OMIM:619057
HP:0011458	Abdominal symptom	378884	NHLRC1	ORPHA:501
HP:0011458	Abdominal symptom	7957	EPM2A	ORPHA:501
HP:0011458	Abdominal symptom	5354	PLP1	ORPHA:280210
HP:0011458	Abdominal symptom	57520	HECW2	OMIM:617268
HP:0011459	Esophageal carcinoma	79651	RHBDF2	OMIM:148500
HP:0011459	Esophageal carcinoma	115908	CTHRC1	OMIM:614266
HP:0011459	Esophageal carcinoma	4481	MSR1	OMIM:614266
HP:0011459	Esophageal carcinoma	51008	ASCC1	OMIM:614266
HP:0011459	Esophageal carcinoma	6772	STAT1	ORPHA:391487
HP:0011459	Esophageal carcinoma	10043	TOM1	ORPHA:391487
HP:0011459	Esophageal carcinoma	6049	RNF6	ORPHA:99977
HP:0011459	Esophageal carcinoma	6049	RNF6	OMIM:133239
HP:0011459	Esophageal carcinoma	7048	TGFBR2	ORPHA:99977
HP:0011459	Esophageal carcinoma	7048	TGFBR2	OMIM:133239
HP:0011459	Esophageal carcinoma	51741	WWOX	ORPHA:99977
HP:0011459	Esophageal carcinoma	51741	WWOX	OMIM:133239
HP:0011459	Esophageal carcinoma	9940	DLEC1	ORPHA:99977
HP:0011459	Esophageal carcinoma	324	APC	ORPHA:247806
HP:0011459	Esophageal carcinoma	324	APC	ORPHA:79665
HP:0011459	Esophageal carcinoma	11178	LZTS1	OMIM:133239
HP:0011459	Esophageal carcinoma	1630	DCC	OMIM:133239
HP:0011450	Unusual CNS infection	26191	PTPN22	ORPHA:397
HP:0011450	Unusual CNS infection	26191	PTPN22	ORPHA:900
HP:0011450	Unusual CNS infection	3106	HLA-B	ORPHA:397
HP:0011450	Unusual CNS infection	3106	HLA-B	ORPHA:117
HP:0011450	Unusual CNS infection	3123	HLA-DRB1	ORPHA:397
HP:0011450	Unusual CNS infection	3123	HLA-DRB1	ORPHA:545
HP:0011450	Unusual CNS infection	8974	P4HA2	ORPHA:397
HP:0011450	Unusual CNS infection	64170	CARD9	OMIM:212050
HP:0011450	Unusual CNS infection	695	BTK	OMIM:300755
HP:0011450	Unusual CNS infection	695	BTK	ORPHA:47
HP:0011450	Unusual CNS infection	695	BTK	OMIM:307200
HP:0011450	Unusual CNS infection	54820	NDE1	ORPHA:2177
HP:0011450	Unusual CNS infection	7454	WAS	ORPHA:906
HP:0011450	Unusual CNS infection	7456	WIPF1	ORPHA:906
HP:0011450	Unusual CNS infection	1493	CTLA4	ORPHA:900
HP:0011450	Unusual CNS infection	3115	HLA-DPB1	ORPHA:900
HP:0011450	Unusual CNS infection	5657	PRTN3	ORPHA:900
HP:0011450	Unusual CNS infection	3113	HLA-DPA1	ORPHA:900
HP:0011450	Unusual CNS infection	1776	DNASE1L3	ORPHA:36412
HP:0011450	Unusual CNS infection	596	BCL2	ORPHA:545
HP:0011450	Unusual CNS infection	3492	IGH	ORPHA:545
HP:0011450	Unusual CNS infection	604	BCL6	ORPHA:545
HP:0011450	Unusual CNS infection	959	CD40LG	OMIM:308230
HP:0011450	Unusual CNS infection	4210	MEFV	ORPHA:342
HP:0011450	Unusual CNS infection	4210	MEFV	OMIM:249100
HP:0011450	Unusual CNS infection	4210	MEFV	ORPHA:117
HP:0011450	Unusual CNS infection	5551	PRF1	OMIM:603553
HP:0011450	Unusual CNS infection	5896	RAG1	OMIM:601457
HP:0011450	Unusual CNS infection	5897	RAG2	OMIM:601457
HP:0011450	Unusual CNS infection	58484	NLRC4	OMIM:616050
HP:0011450	Unusual CNS infection	3718	JAK3	OMIM:600802
HP:0011450	Unusual CNS infection	629	CFB	OMIM:615561
HP:0011450	Unusual CNS infection	3543	IGLL1	OMIM:613500
HP:0011450	Unusual CNS infection	3543	IGLL1	ORPHA:33110
HP:0011450	Unusual CNS infection	732	C8B	OMIM:613789
HP:0011450	Unusual CNS infection	29110	TBK1	OMIM:617900
HP:0011450	Unusual CNS infection	114548	NLRP3	OMIM:607115
HP:0011450	Unusual CNS infection	114548	NLRP3	ORPHA:1451
HP:0011450	Unusual CNS infection	1536	CYBB	ORPHA:379
HP:0011450	Unusual CNS infection	4688	NCF2	ORPHA:379
HP:0011450	Unusual CNS infection	1535	CYBA	ORPHA:379
HP:0011450	Unusual CNS infection	4689	NCF4	ORPHA:379
HP:0011450	Unusual CNS infection	653361	NCF1	ORPHA:379
HP:0011450	Unusual CNS infection	79415	CYBC1	ORPHA:379
HP:0011450	Unusual CNS infection	331	XIAP	OMIM:308240
HP:0011450	Unusual CNS infection	4068	SH2D1A	OMIM:308240
HP:0011450	Unusual CNS infection	2215	FCGR3B	ORPHA:464370
HP:0011450	Unusual CNS infection	23495	TNFRSF13B	OMIM:240500
HP:0011450	Unusual CNS infection	115650	TNFRSF13C	OMIM:240500
HP:0011450	Unusual CNS infection	1380	CR2	OMIM:240500
HP:0011450	Unusual CNS infection	29851	ICOS	OMIM:240500
HP:0011450	Unusual CNS infection	930	CD19	OMIM:240500
HP:0011450	Unusual CNS infection	7037	TFRC	OMIM:616740
HP:0011450	Unusual CNS infection	731	C8A	OMIM:613790
HP:0011450	Unusual CNS infection	57591	MRTFA	OMIM:618847
HP:0011450	Unusual CNS infection	50943	FOXP3	ORPHA:37042
HP:0011450	Unusual CNS infection	10095	ARPC1B	OMIM:617718
HP:0011450	Unusual CNS infection	81839	VANGL1	OMIM:600145
HP:0011450	Unusual CNS infection	7852	CXCR4	ORPHA:51636
HP:0011450	Unusual CNS infection	7098	TLR3	OMIM:613002
HP:0011450	Unusual CNS infection	721	C4B	OMIM:614379
HP:0011450	Unusual CNS infection	6688	SPI1	OMIM:619707
HP:0011450	Unusual CNS infection	6929	TCF3	ORPHA:33110
HP:0011450	Unusual CNS infection	973	CD79A	ORPHA:33110
HP:0011450	Unusual CNS infection	974	CD79B	ORPHA:33110
HP:0011450	Unusual CNS infection	3507	IGHM	ORPHA:33110
HP:0011450	Unusual CNS infection	29760	BLNK	ORPHA:33110
HP:0011450	Unusual CNS infection	5295	PIK3R1	ORPHA:33110
HP:0011450	Unusual CNS infection	56262	LRRC8A	ORPHA:33110
HP:0011450	Unusual CNS infection	149233	IL23R	ORPHA:117
HP:0011450	Unusual CNS infection	6775	STAT4	ORPHA:117
HP:0011450	Unusual CNS infection	3586	IL10	ORPHA:117
HP:0011450	Unusual CNS infection	1230	CCR1	ORPHA:117
HP:0011450	Unusual CNS infection	355	FAS	ORPHA:117
HP:0011450	Unusual CNS infection	3592	IL12A	ORPHA:117
HP:0011450	Unusual CNS infection	101928376	IL12A-AS1	ORPHA:117
HP:0011450	Unusual CNS infection	7099	TLR4	ORPHA:117
HP:0011450	Unusual CNS infection	3459	IFNGR1	ORPHA:117
HP:0011450	Unusual CNS infection	720	C4A	ORPHA:117
HP:0011450	Unusual CNS infection	337867	UBAC2	ORPHA:117
HP:0011450	Unusual CNS infection	51752	ERAP1	ORPHA:117
HP:0011450	Unusual CNS infection	8302	KLRC4	ORPHA:117
HP:0011450	Unusual CNS infection	6772	STAT1	ORPHA:391487
HP:0011450	Unusual CNS infection	10043	TOM1	ORPHA:391487
HP:0011450	Unusual CNS infection	4261	CIITA	OMIM:209920
HP:0011450	Unusual CNS infection	5994	RFXAP	OMIM:209920
HP:0011450	Unusual CNS infection	5993	RFX5	OMIM:209920
HP:0011450	Unusual CNS infection	8625	RFXANK	OMIM:209920
HP:0011450	Unusual CNS infection	8517	IKBKG	ORPHA:464
HP:0011450	Unusual CNS infection	8676	STX11	ORPHA:540
HP:0011450	Unusual CNS infection	201294	UNC13D	ORPHA:540
HP:0011450	Unusual CNS infection	6813	STXBP2	ORPHA:540
HP:0011450	Unusual CNS infection	8915	BCL10	OMIM:616098
HP:0011450	Unusual CNS infection	54968	TMEM70	ORPHA:1194
HP:0011450	Unusual CNS infection	3930	LBR	ORPHA:779
HP:0011450	Unusual CNS infection	3662	IRF4	ORPHA:3452
HP:0011450	Unusual CNS infection	340024	SLC6A19	ORPHA:2116
HP:0011450	Unusual CNS infection	57393	CLTRN	ORPHA:2116
HP:0011450	Unusual CNS infection	546	ATRX	ORPHA:847
HP:0011450	Unusual CNS infection	79944	L2HGDH	ORPHA:79314
HP:0011450	Unusual CNS infection	3426	CFI	OMIM:610984
HP:0011450	Unusual CNS infection	4615	MYD88	OMIM:612260
HP:0011450	Unusual CNS infection	55343	SLC35C1	ORPHA:99843
HP:0011450	Unusual CNS infection	3561	IL2RG	OMIM:300400
HP:0011450	Unusual CNS infection	10525	HYOU1	OMIM:233600
HP:0011450	Unusual CNS infection	3661	IRF3	OMIM:616532
HP:0011450	Unusual CNS infection	148022	TICAM1	OMIM:614850
HP:0011450	Unusual CNS infection	81622	UNC93B1	OMIM:610551
HP:0011450	Unusual CNS infection	3071	NCKAP1L	OMIM:618982
HP:0011450	Unusual CNS infection	7187	TRAF3	OMIM:614849
HP:0011450	Unusual CNS infection	677814	SNORA31	OMIM:619396
HP:0011450	Unusual CNS infection	94	ACVRL1	OMIM:600376
HP:0011450	Unusual CNS infection	2022	ENG	OMIM:187300
HP:0011450	Unusual CNS infection	2261	FGFR3	OMIM:616482
HP:0011450	Unusual CNS infection	3574	IL7	OMIM:618309
HP:0011450	Unusual CNS infection	939	CD27	OMIM:615122
HP:0011450	Unusual CNS infection	51163	DBR1	OMIM:619441
HP:0031831	Decreased serum zinc	4312	MMP1	ORPHA:79408
HP:0031831	Decreased serum zinc	1294	COL7A1	ORPHA:79408
HP:0031831	Decreased serum zinc	1294	COL7A1	ORPHA:89842
HP:0031831	Decreased serum zinc	3376	IARS1	ORPHA:541423
HP:0031831	Decreased serum zinc	3376	IARS1	OMIM:617093
HP:0031831	Decreased serum zinc	7780	SLC30A2	OMIM:608118
HP:0031831	Decreased serum zinc	55630	SLC39A4	OMIM:201100
HP:0031833	Hypometric upward saccades	8398	PLA2G6	OMIM:612953
HP:0031845	Abnormal libido	2488	FSHB	ORPHA:52901
HP:0031845	Abnormal libido	4221	MEN1	ORPHA:2965
HP:0031845	Abnormal libido	9049	AIP	ORPHA:2965
HP:0031845	Abnormal libido	2260	FGFR1	ORPHA:432
HP:0031845	Abnormal libido	81848	SPRY4	ORPHA:432
HP:0031845	Abnormal libido	128674	PROKR2	ORPHA:432
HP:0031845	Abnormal libido	2253	FGF8	ORPHA:432
HP:0031845	Abnormal libido	60675	PROK2	ORPHA:432
HP:0031845	Abnormal libido	55636	CHD7	ORPHA:432
HP:0031845	Abnormal libido	6870	TACR3	ORPHA:432
HP:0031845	Abnormal libido	1848	DUSP6	ORPHA:432
HP:0031845	Abnormal libido	26012	NSMF	ORPHA:432
HP:0031845	Abnormal libido	55717	WDR11	ORPHA:432
HP:0031845	Abnormal libido	9394	HS6ST1	ORPHA:432
HP:0031845	Abnormal libido	2796	GNRH1	ORPHA:432
HP:0031845	Abnormal libido	2798	GNRHR	ORPHA:432
HP:0031845	Abnormal libido	84634	KISS1R	ORPHA:432
HP:0031845	Abnormal libido	6866	TAC3	ORPHA:432
HP:0031845	Abnormal libido	8822	FGF17	ORPHA:432
HP:0031845	Abnormal libido	3814	KISS1	ORPHA:432
HP:0031845	Abnormal libido	79798	ARMC5	ORPHA:189427
HP:0031845	Abnormal libido	2778	GNAS	ORPHA:189427
HP:0031845	Abnormal libido	3064	HTT	ORPHA:399
HP:0031845	Abnormal libido	6515	SLC2A3	ORPHA:399
HP:0031845	Abnormal libido	5566	PRKACA	ORPHA:189439
HP:0031845	Abnormal libido	8622	PDE8B	ORPHA:189439
HP:0031845	Abnormal libido	5573	PRKAR1A	ORPHA:189439
HP:0031845	Abnormal libido	50940	PDE11A	ORPHA:189439
HP:0031845	Abnormal libido	84196	USP48	ORPHA:96253
HP:0031845	Abnormal libido	7157	TP53	ORPHA:96253
HP:0031845	Abnormal libido	9101	USP8	ORPHA:96253
HP:0031845	Abnormal libido	64072	CDH23	ORPHA:96253
HP:0031845	Abnormal libido	2908	NR3C1	ORPHA:96253
HP:0031845	Abnormal libido	673	BRAF	ORPHA:96253
HP:0031845	Abnormal libido	546	ATRX	ORPHA:96253
HP:0031845	Abnormal libido	215	ABCD1	ORPHA:139399
HP:0031845	Abnormal libido	1027	CDKN1B	ORPHA:652
HP:0031845	Abnormal libido	1026	CDKN1A	ORPHA:652
HP:0031845	Abnormal libido	1030	CDKN2B	ORPHA:652
HP:0031845	Abnormal libido	1031	CDKN2C	ORPHA:652
HP:0031846	Femur fracture	64132	XYLT2	OMIM:605822
HP:0031846	Femur fracture	23299	BICD2	OMIM:618291
HP:0031846	Femur fracture	10312	TCIRG1	OMIM:259700
HP:0031846	Femur fracture	8792	TNFRSF11A	OMIM:612301
HP:0031846	Femur fracture	221496	LEMD2	OMIM:619322
HP:0008400	Onycholysis of distal fingernails	3691	ITGB4	OMIM:619816
HP:0008402	Ridged fingernail	8517	IKBKG	ORPHA:464
HP:0008402	Ridged fingernail	1857	DVL3	ORPHA:3107
HP:0008402	Ridged fingernail	7474	WNT5A	ORPHA:3107
HP:0008402	Ridged fingernail	1855	DVL1	ORPHA:3107
HP:0008402	Ridged fingernail	2535	FZD2	ORPHA:3107
HP:0008402	Ridged fingernail	1947	EFNB1	ORPHA:1520
HP:0008402	Ridged fingernail	55630	SLC39A4	ORPHA:37
HP:0008402	Ridged fingernail	26277	TINF2	OMIM:268130
HP:0008402	Ridged fingernail	4487	MSX1	ORPHA:2228
HP:0001241	Capitate-hamate fusion	5566	PRKACA	ORPHA:289
HP:0001241	Capitate-hamate fusion	5567	PRKACB	ORPHA:289
HP:0001241	Capitate-hamate fusion	2735	GLI1	ORPHA:289
HP:0001241	Capitate-hamate fusion	2121	EVC	ORPHA:289
HP:0001241	Capitate-hamate fusion	2121	EVC	OMIM:225500
HP:0001241	Capitate-hamate fusion	51626	DYNC2LI1	ORPHA:289
HP:0001241	Capitate-hamate fusion	132884	EVC2	ORPHA:289
HP:0001241	Capitate-hamate fusion	132884	EVC2	OMIM:225500
HP:0001241	Capitate-hamate fusion	2316	FLNA	OMIM:311300
HP:0001241	Capitate-hamate fusion	64093	SMOC1	OMIM:206920
HP:0001241	Capitate-hamate fusion	538	ATP7A	OMIM:304150
HP:0001241	Capitate-hamate fusion	2317	FLNB	OMIM:272460
HP:0001241	Capitate-hamate fusion	54928	BPNT2	OMIM:614078
HP:0001241	Capitate-hamate fusion	2261	FGFR3	OMIM:602849
HP:0001248	Short tubular bones of the hand	2317	FLNB	ORPHA:56305
HP:0001248	Short tubular bones of the hand	1300	COL10A1	ORPHA:174
HP:0001248	Short tubular bones of the hand	1280	COL2A1	OMIM:200610
HP:0001248	Short tubular bones of the hand	59341	TRPV4	ORPHA:93314
HP:0011462	Young adult onset	282996	RBM20	OMIM:613172
HP:0011462	Young adult onset	125150	ZSWIM7	OMIM:619831
HP:0011462	Young adult onset	151648	SGO1	OMIM:616201
HP:0011462	Young adult onset	5350	PLN	OMIM:609909
HP:0011462	Young adult onset	583	BBS2	OMIM:616562
HP:0011462	Young adult onset	114548	NLRP3	OMIM:617772
HP:0011462	Young adult onset	114548	NLRP3	OMIM:148200
HP:0011462	Young adult onset	253017	TECRL	OMIM:614021
HP:0011462	Young adult onset	2153	F5	OMIM:614389
HP:0011462	Young adult onset	22880	MORC2	OMIM:616688
HP:0011462	Young adult onset	8573	CASK	OMIM:300908
HP:0011462	Young adult onset	2539	G6PD	OMIM:300908
HP:0011462	Young adult onset	7415	VCP	OMIM:616687
HP:0011462	Young adult onset	3910	LAMA4	OMIM:615235
HP:0011462	Young adult onset	144132	DNHD1	OMIM:619712
HP:0011462	Young adult onset	3703	STT3A	OMIM:619714
HP:0011462	Young adult onset	8291	DYSF	OMIM:253601
HP:0011462	Young adult onset	8291	DYSF	OMIM:606768
HP:0011462	Young adult onset	148738	HJV	OMIM:602390
HP:0011462	Young adult onset	9742	IFT140	OMIM:617781
HP:0011462	Young adult onset	4867	NPHP1	OMIM:266900
HP:0011462	Young adult onset	2147	F2	OMIM:614390
HP:0011462	Young adult onset	4210	MEFV	OMIM:249100
HP:0011462	Young adult onset	308	ANXA5	OMIM:614391
HP:0011462	Young adult onset	56616	DIABLO	OMIM:614152
HP:0011462	Young adult onset	5155	PDGFB	OMIM:615483
HP:0011462	Young adult onset	8722	CTSF	OMIM:615362
HP:0011462	Young adult onset	70	ACTC1	OMIM:612098
HP:0011462	Young adult onset	70	ACTC1	OMIM:613424
HP:0011462	Young adult onset	84665	MYPN	OMIM:615248
HP:0011462	Young adult onset	55689	YEATS2	OMIM:615127
HP:0011462	Young adult onset	54982	CLN6	OMIM:204300
HP:0011462	Young adult onset	5159	PDGFRB	OMIM:615007
HP:0011462	Young adult onset	57545	CC2D2A	OMIM:619845
HP:0011462	Young adult onset	83959	SLC4A11	OMIM:217400
HP:0011462	Young adult onset	146057	TTBK2	OMIM:604432
HP:0011462	Young adult onset	10388	SYCP2	OMIM:258150
HP:0011462	Young adult onset	535	ATP6V0A1	OMIM:619971
HP:0011462	Young adult onset	653509	SFTPA1	OMIM:619611
HP:0011462	Young adult onset	8632	DNAH17	OMIM:618643
HP:0011462	Young adult onset	23370	ARHGEF18	OMIM:617433
HP:0011462	Young adult onset	50484	RRM2B	OMIM:613077
HP:0011462	Young adult onset	63976	PRDM16	OMIM:615373
HP:0011462	Young adult onset	79797	ZNF408	OMIM:616469
HP:0011462	Young adult onset	30813	VSX1	OMIM:148300
HP:0011462	Young adult onset	8930	MBD4	OMIM:619975
HP:0011462	Young adult onset	80201	HKDC1	OMIM:619614
HP:0011462	Young adult onset	5832	ALDH18A1	OMIM:601162
HP:0011462	Young adult onset	6331	SCN5A	OMIM:601154
HP:0011462	Young adult onset	2645	GCK	OMIM:602485
HP:0011462	Young adult onset	5621	PRNP	OMIM:603218
HP:0011462	Young adult onset	857	CAV1	OMIM:606721
HP:0011462	Young adult onset	857	CAV1	OMIM:615343
HP:0011462	Young adult onset	6926	TBX3	OMIM:181450
HP:0011462	Young adult onset	10935	PRDX3	OMIM:619862
HP:0011462	Young adult onset	84173	ELMOD3	OMIM:619500
HP:0011462	Young adult onset	5442	POLRMT	OMIM:619743
HP:0011462	Young adult onset	83636	C19orf12	OMIM:614298
HP:0011462	Young adult onset	55526	DHTKD1	OMIM:615025
HP:0011462	Young adult onset	595	CCND1	OMIM:193300
HP:0011462	Young adult onset	7428	VHL	OMIM:193300
HP:0011462	Young adult onset	6392	SDHD	OMIM:168000
HP:0011462	Young adult onset	57728	WDR19	OMIM:619867
HP:0011462	Young adult onset	9529	BAG5	OMIM:619747
HP:0011462	Young adult onset	6103	RPGR	OMIM:304020
HP:0011462	Young adult onset	4854	NOTCH3	OMIM:125310
HP:0011462	Young adult onset	477	ATP1A2	OMIM:602481
HP:0011462	Young adult onset	9897	WASHC5	OMIM:603563
HP:0011462	Young adult onset	10594	PRPF8	OMIM:600059
HP:0011462	Young adult onset	55012	PPP2R3C	OMIM:618420
HP:0011462	Young adult onset	5311	PKD2	OMIM:613095
HP:0011462	Young adult onset	4117	MAK	OMIM:614181
HP:0011462	Young adult onset	63982	ANO3	OMIM:615034
HP:0011462	Young adult onset	25981	DNAH1	OMIM:617576
HP:0011462	Young adult onset	1763	DNA2	OMIM:615156
HP:0011462	Young adult onset	5314	PKHD1	OMIM:263200
HP:0011462	Young adult onset	2318	FLNC	OMIM:614065
HP:0011462	Young adult onset	2318	FLNC	OMIM:617047
HP:0011462	Young adult onset	4607	MYBPC3	OMIM:615396
HP:0011462	Young adult onset	199223	TTC21A	OMIM:618429
HP:0011462	Young adult onset	389692	MAFA	OMIM:147630
HP:0011462	Young adult onset	89869	PLCZ1	OMIM:617214
HP:0011462	Young adult onset	54456	MOV10L1	OMIM:619878
HP:0011462	Young adult onset	55823	VPS11	OMIM:619637
HP:0011462	Young adult onset	6262	RYR2	OMIM:604772
HP:0011462	Young adult onset	845	CASQ2	OMIM:604772
HP:0011462	Young adult onset	10345	TRDN	OMIM:604772
HP:0011462	Young adult onset	9049	AIP	OMIM:102200
HP:0011462	Young adult onset	79188	TMEM43	OMIM:604400
HP:0011462	Young adult onset	6101	RP1	OMIM:180100
HP:0011462	Young adult onset	150365	MEI1	OMIM:618431
HP:0011462	Young adult onset	431705	ASTL	OMIM:619643
HP:0011462	Young adult onset	7075	TIE1	OMIM:619401
HP:0011462	Young adult onset	3098	HK1	OMIM:617460
HP:0011462	Young adult onset	4669	NAGLU	OMIM:616491
HP:0011462	Young adult onset	4437	MSH3	OMIM:617100
HP:0011462	Young adult onset	154197	PNLDC1	OMIM:619528
HP:0011462	Young adult onset	145645	TERB2	OMIM:619645
HP:0011462	Young adult onset	283847	TERB1	OMIM:619646
HP:0011462	Young adult onset	2542	SLC37A4	OMIM:619525
HP:0011462	Young adult onset	7139	TNNT2	OMIM:601494
HP:0011462	Young adult onset	7139	TNNT2	OMIM:115195
HP:0011462	Young adult onset	2556	GABRA3	OMIM:301091
HP:0011462	Young adult onset	1690	COCH	OMIM:601369
HP:0011462	Young adult onset	83723	TLCD3B	OMIM:619531
HP:0011462	Young adult onset	55779	CFAP44	OMIM:617593
HP:0011462	Young adult onset	1282	COL4A1	OMIM:618564
HP:0011462	Young adult onset	80217	CFAP43	OMIM:617592
HP:0011462	Young adult onset	3423	IDS	OMIM:309900
HP:0011462	Young adult onset	56983	POGLUT1	OMIM:617232
HP:0011462	Young adult onset	7867	MAPKAPK3	OMIM:617111
HP:0011462	Young adult onset	84131	CEP78	OMIM:617236
HP:0011462	Young adult onset	6578	SLCO2A1	OMIM:167100
HP:0011462	Young adult onset	6578	SLCO2A1	OMIM:614441
HP:0011462	Young adult onset	2677	GGCX	OMIM:610842
HP:0011462	Young adult onset	23676	SMPX	OMIM:301075
HP:0011462	Young adult onset	93953	GCNA	OMIM:301077
HP:0011462	Young adult onset	54443	ANLN	OMIM:616032
HP:0011462	Young adult onset	59345	GNB4	OMIM:615185
HP:0011462	Young adult onset	50939	IMPG2	OMIM:616152
HP:0011462	Young adult onset	3752	KCND3	OMIM:616399
HP:0011462	Young adult onset	3752	KCND3	OMIM:607346
HP:0011462	Young adult onset	1674	DES	OMIM:181400
HP:0011462	Young adult onset	2617	GARS1	OMIM:601472
HP:0011462	Young adult onset	2617	GARS1	OMIM:600794
HP:0011462	Young adult onset	23064	SETX	OMIM:602433
HP:0011462	Young adult onset	353116	RILPL1	OMIM:619790
HP:0011462	Young adult onset	199713	NLRP7	OMIM:231090
HP:0011462	Young adult onset	4175	MCM6	OMIM:223100
HP:0011462	Young adult onset	1730	DIAPH2	OMIM:300511
HP:0011462	Young adult onset	84074	QRICH2	OMIM:618341
HP:0011462	Young adult onset	57465	TBC1D24	OMIM:616044
HP:0011462	Young adult onset	335	APOA1	OMIM:618463
HP:0011462	Young adult onset	11055	ZPBP	OMIM:619799
HP:0011462	Young adult onset	3426	CFI	OMIM:612923
HP:0011462	Young adult onset	871	SERPINH1	OMIM:610504
HP:0011462	Young adult onset	10049	DNAJB6	OMIM:603511
HP:0011462	Young adult onset	84909	AOPEP	OMIM:619565
HP:0011462	Young adult onset	3714	JAG2	OMIM:619566
HP:0011462	Young adult onset	6340	SCNN1G	OMIM:618114
HP:0011462	Young adult onset	92667	MGME1	OMIM:615084
HP:0011462	Young adult onset	25814	ATXN10	OMIM:603516
HP:0011462	Young adult onset	23586	RIGI	OMIM:616298
HP:0011462	Young adult onset	122402	TDRD9	OMIM:618110
HP:0011462	Young adult onset	140801	RPL10L	OMIM:619689
HP:0011462	Young adult onset	1130	LYST	OMIM:214500
HP:0011462	Young adult onset	4010	LMX1B	OMIM:256020
HP:0011462	Young adult onset	23005	MAPKBP1	OMIM:617271
HP:0011462	Young adult onset	5071	PRKN	OMIM:600116
HP:0011462	Young adult onset	286151	FBXO43	OMIM:619696
HP:0011462	Young adult onset	84061	MAGT1	OMIM:300853
HP:0011462	Young adult onset	63910	SLC17A9	OMIM:616063
HP:0011462	Young adult onset	29978	UBQLN2	OMIM:300857
HP:0011462	Young adult onset	71	ACTG1	OMIM:604717
HP:0011462	Young adult onset	5318	PKP2	OMIM:609040
HP:0011462	Young adult onset	291	SLC25A4	OMIM:609283
HP:0011462	Young adult onset	825	CAPN3	OMIM:618129
HP:0011462	Young adult onset	55975	KLHL7	OMIM:612943
HP:0011462	Young adult onset	116442	RAB39B	OMIM:311510
HP:0011462	Young adult onset	2218	FKTN	OMIM:611615
HP:0011462	Young adult onset	6102	RP2	OMIM:312600
HP:0011462	Young adult onset	4864	NPC1	OMIM:257220
HP:0011462	Young adult onset	4635	MYL4	OMIM:617280
HP:0011462	Young adult onset	6795	AURKC	OMIM:243060
HP:0011462	Young adult onset	2661	GDF9	OMIM:618014
HP:0011462	Young adult onset	9445	ITM2B	OMIM:616079
HP:0011462	Young adult onset	4015	LOX	OMIM:617168
HP:0011462	Young adult onset	10149	ADGRG2	OMIM:300985
HP:0011462	Young adult onset	10667	FARS2	OMIM:617046
HP:0011462	Young adult onset	80173	IFT74	OMIM:619585
HP:0011462	Young adult onset	8398	PLA2G6	OMIM:612953
HP:0011462	Young adult onset	339829	CCDC39	OMIM:613807
HP:0011462	Young adult onset	7225	TRPC6	OMIM:603965
HP:0011462	Young adult onset	10519	CIB1	OMIM:618267
HP:0011462	Young adult onset	100996717	NOTCH2NLC	OMIM:619473
HP:0011462	Young adult onset	29927	SEC61A1	OMIM:617056
HP:0011462	Young adult onset	84196	USP48	OMIM:620227
HP:0011462	Young adult onset	8468	FKBP6	OMIM:620103
HP:0011462	Young adult onset	7134	TNNC1	OMIM:611879
HP:0011462	Young adult onset	7134	TNNC1	OMIM:613243
HP:0011462	Young adult onset	92749	DRC1	OMIM:620222
HP:0011462	Young adult onset	7168	TPM1	OMIM:611878
HP:0011462	Young adult onset	2335	FN1	OMIM:601894
HP:0011462	Young adult onset	1412	CRYBA2	OMIM:115900
HP:0011462	Young adult onset	5340	PLG	OMIM:619360
HP:0011462	Young adult onset	84868	HAVCR2	OMIM:618398
HP:0011462	Young adult onset	140732	SUN5	OMIM:617187
HP:0011462	Young adult onset	10483	SEC23B	OMIM:224100
HP:0011462	Young adult onset	7078	TIMP3	OMIM:136900
HP:0011462	Young adult onset	144406	CFAP251	OMIM:618152
HP:0011462	Young adult onset	79983	POF1B	OMIM:300604
HP:0011462	Young adult onset	401024	FSIP2	OMIM:618153
HP:0011462	Young adult onset	3827	KNG1	OMIM:619363
HP:0011462	Young adult onset	55145	THAP1	OMIM:602629
HP:0011462	Young adult onset	7137	TNNI3	OMIM:611880
HP:0011462	Young adult onset	7137	TNNI3	OMIM:613286
HP:0011462	Young adult onset	54800	KLHL24	OMIM:620236
HP:0011462	Young adult onset	23516	SLC39A14	OMIM:144755
HP:0011462	Young adult onset	3710	ITPR3	OMIM:620111
HP:0011462	Young adult onset	7414	VCL	OMIM:611407
HP:0011462	Young adult onset	6508	SLC4A3	OMIM:620231
HP:0011462	Young adult onset	51062	ATL1	OMIM:613708
HP:0011462	Young adult onset	5660	PSAP	OMIM:619491
HP:0011462	Young adult onset	81624	DIAPH3	OMIM:609129
HP:0011462	Young adult onset	1716	DGUOK	OMIM:617070
HP:0011462	Young adult onset	375307	CATIP	OMIM:619379
HP:0011462	Young adult onset	1540	CYLD	OMIM:619132
HP:0011462	Young adult onset	7072	TIA1	OMIM:619133
HP:0011462	Young adult onset	8651	SOCS1	OMIM:619375
HP:0011462	Young adult onset	85358	SHANK3	OMIM:613950
HP:0011462	Young adult onset	6329	SCN4A	OMIM:608390
HP:0011462	Young adult onset	7716	VEZF1	OMIM:620247
HP:0011462	Young adult onset	283417	DPY19L2	OMIM:613958
HP:0011462	Young adult onset	1371	CPOX	OMIM:121300
HP:0011462	Young adult onset	200162	SPAG17	OMIM:619380
HP:0011462	Young adult onset	84277	DNAJC30	OMIM:619382
HP:0011462	Young adult onset	23193	GANAB	OMIM:600666
HP:0011462	Young adult onset	2296	FOXC1	OMIM:601631
HP:0011462	Young adult onset	7516	XRCC2	OMIM:619146
HP:0011462	Young adult onset	4137	MAPT	OMIM:260540
HP:0011462	Young adult onset	2034	EPAS1	OMIM:611783
HP:0011462	Young adult onset	117155	CATSPER2	OMIM:612997
HP:0011462	Young adult onset	161497	STRC	OMIM:612997
HP:0011462	Young adult onset	117144	CATSPER1	OMIM:612997
HP:0011462	Young adult onset	9935	MAFB	OMIM:166300
HP:0011462	Young adult onset	6622	SNCA	OMIM:168601
HP:0011462	Young adult onset	8996	NOL3	OMIM:614937
HP:0011462	Young adult onset	203859	ANO5	OMIM:611307
HP:0011462	Young adult onset	203859	ANO5	OMIM:613319
HP:0011462	Young adult onset	10299	MARCHF6	OMIM:613608
HP:0011462	Young adult onset	55129	ANO10	OMIM:613728
HP:0011462	Young adult onset	80036	TRPM3	OMIM:620253
HP:0011462	Young adult onset	10861	SLC26A1	OMIM:620372
HP:0011462	Young adult onset	773	CACNA1A	OMIM:183086
HP:0011462	Young adult onset	773	CACNA1A	OMIM:141500
HP:0011462	Young adult onset	59341	TRPV4	OMIM:606071
HP:0011462	Young adult onset	9782	MATR3	OMIM:606070
HP:0011462	Young adult onset	124404	SEPTIN12	OMIM:614822
HP:0011462	Young adult onset	5894	RAF1	OMIM:615916
HP:0011462	Young adult onset	478	ATP1A3	OMIM:128235
HP:0011462	Young adult onset	6311	ATXN2	OMIM:183090
HP:0011462	Young adult onset	24148	PRPF6	OMIM:613983
HP:0011462	Young adult onset	9128	PRPF4	OMIM:615922
HP:0011462	Young adult onset	50940	PDE11A	OMIM:610475
HP:0011462	Young adult onset	6521	SLC4A1	OMIM:612653
HP:0011462	Young adult onset	1824	DSC2	OMIM:610476
HP:0011462	Young adult onset	5498	PPOX	OMIM:176200
HP:0011462	Young adult onset	3077	HFE	OMIM:176200
HP:0011462	Young adult onset	4884	NPTX1	OMIM:620158
HP:0011462	Young adult onset	7015	TERT	OMIM:613989
HP:0011462	Young adult onset	678	ZFP36L2	OMIM:620154
HP:0011462	Young adult onset	2273	FHL1	OMIM:300696
HP:0011462	Young adult onset	2273	FHL1	OMIM:300695
HP:0011462	Young adult onset	5649	RELN	OMIM:600512
HP:0011462	Young adult onset	64780	MICAL1	OMIM:600512
HP:0011462	Young adult onset	9211	LGI1	OMIM:600512
HP:0011462	Young adult onset	64601	VPS16	OMIM:619291
HP:0011462	Young adult onset	6452	SH3BP2	OMIM:118400
HP:0011462	Young adult onset	57697	FANCM	OMIM:618086
HP:0011462	Young adult onset	26277	TINF2	OMIM:613990
HP:0011462	Young adult onset	4901	NRL	OMIM:613750
HP:0011462	Young adult onset	22954	TRIM32	OMIM:254110
HP:0011462	Young adult onset	57158	JPH2	OMIM:613873
HP:0011462	Young adult onset	9149	DYRK1B	OMIM:615812
HP:0011462	Young adult onset	5346	PLIN1	OMIM:613877
HP:0011462	Young adult onset	10939	AFG3L2	OMIM:610246
HP:0011462	Young adult onset	5573	PRKAR1A	OMIM:610489
HP:0011462	Young adult onset	6843	VAMP1	OMIM:108600
HP:0011462	Young adult onset	256297	PTF1A	OMIM:615935
HP:0011462	Young adult onset	29967	LRP12	OMIM:164310
HP:0011462	Young adult onset	80726	IQCN	OMIM:620170
HP:0011462	Young adult onset	9750	RIPOR2	OMIM:607017
HP:0011462	Young adult onset	6691	SPINK2	OMIM:618091
HP:0011462	Young adult onset	659	BMPR2	OMIM:178600
HP:0011462	Young adult onset	9517	SPTLC2	OMIM:613640
HP:0011462	Young adult onset	9531	BAG3	OMIM:613881
HP:0011462	Young adult onset	26090	ABHD12	OMIM:612674
HP:0011462	Young adult onset	675	BRCA2	OMIM:612555
HP:0011462	Young adult onset	1600	DAB1	OMIM:615945
HP:0011462	Young adult onset	57055	DAZ2	OMIM:415000
HP:0011462	Young adult onset	5940	RBMY1A1	OMIM:415000
HP:0011462	Young adult onset	9082	XKRY	OMIM:415000
HP:0011462	Young adult onset	57054	DAZ3	OMIM:415000
HP:0011462	Young adult onset	1617	DAZ1	OMIM:415000
HP:0011462	Young adult onset	8284	KDM5D	OMIM:415000
HP:0011462	Young adult onset	442862	PRY2	OMIM:415000
HP:0011462	Young adult onset	9081	PRY	OMIM:415000
HP:0011462	Young adult onset	140032	RPS4Y2	OMIM:415000
HP:0011462	Young adult onset	9426	CDY2A	OMIM:415000
HP:0011462	Young adult onset	9083	BPY2	OMIM:415000
HP:0011462	Young adult onset	86614	HSFY1	OMIM:415000
HP:0011462	Young adult onset	9084	VCY	OMIM:415000
HP:0011462	Young adult onset	8287	USP9Y	OMIM:415000
HP:0011462	Young adult onset	9085	CDY1	OMIM:415000
HP:0011462	Young adult onset	8653	DDX3Y	OMIM:415000
HP:0011462	Young adult onset	9096	TBX18	OMIM:143400
HP:0011462	Young adult onset	6908	TBP	OMIM:607136
HP:0011462	Young adult onset	7915	ALDH5A1	OMIM:271980
HP:0011462	Young adult onset	84138	SLC7A6OS	OMIM:619191
HP:0011462	Young adult onset	4878	NPPA	OMIM:612201
HP:0011462	Young adult onset	60481	ELOVL5	OMIM:615957
HP:0011462	Young adult onset	80704	SLC19A3	OMIM:607483
HP:0011462	Young adult onset	4438	MSH4	OMIM:108420
HP:0011462	Young adult onset	4438	MSH4	OMIM:619938
HP:0011462	Young adult onset	56159	TEX11	OMIM:309120
HP:0011462	Young adult onset	3251	HPRT1	OMIM:300322
HP:0011462	Young adult onset	4763	NF1	OMIM:162210
HP:0011462	Young adult onset	190	NR0B1	OMIM:300200
HP:0011462	Young adult onset	2908	NR3C1	OMIM:615962
HP:0011462	Young adult onset	6875	TAF4B	OMIM:615841
HP:0011462	Young adult onset	84225	ZMYND15	OMIM:615842
HP:0011462	Young adult onset	164045	HFM1	OMIM:615724
HP:0011462	Young adult onset	10734	STAG3	OMIM:615723
HP:0011462	Young adult onset	2488	FSHB	OMIM:229070
HP:0011462	Young adult onset	10253	SPRY2	OMIM:616818
HP:0011462	Young adult onset	6742	SSBP1	OMIM:165510
HP:0011462	Young adult onset	157855	KCNU1	OMIM:620196
HP:0011462	Young adult onset	29851	ICOS	OMIM:607594
HP:0011462	Young adult onset	91057	CCDC34	OMIM:620084
HP:0011462	Young adult onset	219736	STOX1	OMIM:609404
HP:0011462	Young adult onset	81031	SLC2A10	OMIM:208050
HP:0011462	Young adult onset	3300	DNAJB2	OMIM:614881
HP:0011462	Young adult onset	10002	NR2E3	OMIM:611131
HP:0011462	Young adult onset	2074	ERCC6	OMIM:616946
HP:0011462	Young adult onset	10133	OPTN	OMIM:613435
HP:0011462	Young adult onset	57817	HAMP	OMIM:613313
HP:0011462	Young adult onset	7045	TGFBI	OMIM:121820
HP:0011462	Young adult onset	710	SERPING1	OMIM:106100
HP:0011462	Young adult onset	26353	HSPB8	OMIM:608673
HP:0011462	Young adult onset	50511	SYCP3	OMIM:270960
HP:0011462	Young adult onset	80331	DNAJC5	OMIM:162350
HP:0011462	Young adult onset	3991	LIPE	OMIM:615980
HP:0011462	Young adult onset	23093	TTLL5	OMIM:615860
HP:0011462	Young adult onset	64788	LMF1	OMIM:246650
HP:0011462	Young adult onset	2581	GALC	OMIM:245200
HP:0011462	Young adult onset	3798	KIF5A	OMIM:617921
HP:0011462	Young adult onset	1376	CPT2	OMIM:255110
HP:0011462	Young adult onset	93426	SYCE1	OMIM:616950
HP:0011462	Young adult onset	3371	TNC	OMIM:615629
HP:0011462	Young adult onset	10382	TUBB4A	OMIM:128101
HP:0011462	Young adult onset	6323	SCN1A	OMIM:609634
HP:0011462	Young adult onset	865	CBFB	OMIM:620099
HP:0011462	Young adult onset	8729	GBF1	OMIM:606483
HP:0011462	Young adult onset	92935	MARS2	OMIM:611390
HP:0011462	Young adult onset	25923	ATL3	OMIM:615632
HP:0011462	Young adult onset	9698	PUM1	OMIM:617931
HP:0011462	Young adult onset	23600	AMACR	OMIM:614307
HP:0011462	Young adult onset	8763	CD164	OMIM:616969
HP:0011462	Young adult onset	10516	FBLN5	OMIM:608895
HP:0011462	Young adult onset	2200	FBN1	OMIM:129600
HP:0011462	Young adult onset	1837	DTNA	OMIM:604169
HP:0011462	Young adult onset	55187	VPS13D	OMIM:607317
HP:0011462	Young adult onset	3748	KCNC3	OMIM:605259
HP:0011462	Young adult onset	1822	ATN1	OMIM:125370
HP:0011462	Young adult onset	83552	MFRP	OMIM:611040
HP:0011462	Young adult onset	1829	DSG2	OMIM:610193
HP:0011462	Young adult onset	440275	EIF2AK4	OMIM:234810
HP:0011462	Young adult onset	58	ACTA1	OMIM:616852
HP:0011462	Young adult onset	57505	AARS2	OMIM:615889
HP:0011462	Young adult onset	56155	TEX14	OMIM:617707
HP:0011462	Young adult onset	254528	MEIOB	OMIM:617706
HP:0011462	Young adult onset	324	APC	OMIM:135290
HP:0011462	Young adult onset	3784	KCNQ1	OMIM:607554
HP:0011462	Young adult onset	1497	CTNS	OMIM:219750
HP:0011462	Young adult onset	64135	IFIH1	OMIM:182250
HP:0011462	Young adult onset	3643	INSR	OMIM:609968
HP:0011462	Young adult onset	727676	SNORD118	OMIM:614561
HP:0011462	Young adult onset	128338	DRAM2	OMIM:616502
HP:0011462	Young adult onset	7784	ZP3	OMIM:617712
HP:0011462	Young adult onset	7128	TNFAIP3	OMIM:616744
HP:0011462	Young adult onset	10560	SLC19A2	OMIM:249270
HP:0011462	Young adult onset	22917	ZP1	OMIM:615774
HP:0011462	Young adult onset	8314	BAP1	OMIM:614327
HP:0011462	Young adult onset	1000	CDH2	OMIM:618920
HP:0011462	Young adult onset	26525	IL36RN	OMIM:614204
HP:0011462	Young adult onset	100134444	KCNJ18	OMIM:613239
HP:0011462	Young adult onset	80208	SPG11	OMIM:602099
HP:0011462	Young adult onset	80208	SPG11	OMIM:604360
HP:0011462	Young adult onset	80208	SPG11	OMIM:616668
HP:0011462	Young adult onset	23400	ATP13A2	OMIM:606693
HP:0011462	Young adult onset	9217	VAPB	OMIM:608627
HP:0011462	Young adult onset	9420	CYP7B1	OMIM:270800
HP:0011462	Young adult onset	57165	GJC2	OMIM:613480
HP:0011462	Young adult onset	80705	TSGA10	OMIM:617961
HP:0011462	Young adult onset	56154	TEX15	OMIM:617960
HP:0011462	Young adult onset	122481	AK7	OMIM:617965
HP:0011462	Young adult onset	64423	INF2	OMIM:614455
HP:0011462	Young adult onset	7289	TULP3	OMIM:619902
HP:0011462	Young adult onset	3178	HNRNPA1	OMIM:615424
HP:0011462	Young adult onset	91624	NEXN	OMIM:613122
HP:0011462	Young adult onset	26060	APPL1	OMIM:616511
HP:0011462	Young adult onset	10320	IKZF1	OMIM:616873
HP:0011462	Young adult onset	2224	FDPS	OMIM:616631
HP:0011462	Young adult onset	80736	SLC44A4	OMIM:617606
HP:0011462	Young adult onset	88	ACTN2	OMIM:612158
HP:0011462	Young adult onset	6444	SGCD	OMIM:606685
HP:0011462	Young adult onset	4771	NF2	OMIM:101000
HP:0011462	Young adult onset	5376	PMP22	OMIM:162500
HP:0011462	Young adult onset	10568	SLC34A2	OMIM:265100
HP:0011462	Young adult onset	10755	GIPC1	OMIM:618940
HP:0011462	Young adult onset	4624	MYH6	OMIM:613251
HP:0011462	Young adult onset	5618	PRLR	OMIM:615555
HP:0011462	Young adult onset	23568	ARL2BP	OMIM:615434
HP:0011462	Young adult onset	8988	HSPB3	OMIM:613376
HP:0011462	Young adult onset	640	BLK	OMIM:613375
HP:0011462	Young adult onset	2548	GAA	OMIM:232300
HP:0011462	Young adult onset	1495	CTNNA1	OMIM:608970
HP:0011462	Young adult onset	5468	PPARG	OMIM:604367
HP:0011462	Young adult onset	1056	CEL	OMIM:609812
HP:0011462	Young adult onset	84660	CCDC62	OMIM:619803
HP:0011462	Young adult onset	197135	PATL2	OMIM:617743
HP:0011462	Young adult onset	151254	C2CD6	OMIM:619805
HP:0011462	Young adult onset	1293	COL6A3	OMIM:616411
HP:0011462	Young adult onset	57570	TRMT5	OMIM:616539
HP:0011462	Young adult onset	1786	DNMT1	OMIM:614116
HP:0011462	Young adult onset	1786	DNMT1	OMIM:604121
HP:0011462	Young adult onset	10137	RBM12	OMIM:617629
HP:0011462	Young adult onset	6785	ELOVL4	OMIM:133190
HP:0011462	Young adult onset	4131	MAP1B	OMIM:619808
HP:0011462	Young adult onset	3094	HINT1	OMIM:137200
HP:0011462	Young adult onset	24	ABCA4	OMIM:604116
HP:0011462	Young adult onset	79934	COQ8B	OMIM:615573
HP:0011462	Young adult onset	494551	WEE2	OMIM:617996
HP:0011462	Young adult onset	4439	MSH5	OMIM:619937
HP:0011462	Young adult onset	23250	ATP11A	OMIM:619810
HP:0011462	Young adult onset	51422	PRKAG2	OMIM:194200
HP:0011462	Young adult onset	8086	AAAS	OMIM:231550
HP:0011462	Young adult onset	6223	RPS19	OMIM:105650
HP:0011462	Young adult onset	6609	SMPD1	OMIM:607616
HP:0011462	Young adult onset	846	CASR	OMIM:601198
HP:0011462	Young adult onset	116369	SLC26A8	OMIM:606766
HP:0011462	Young adult onset	4340	MOG	OMIM:614250
HP:0011462	Young adult onset	26249	KLHL3	OMIM:614495
HP:0011462	Young adult onset	7305	TYROBP	OMIM:221770
HP:0011462	Young adult onset	22978	NT5C2	OMIM:613162
HP:0011462	Young adult onset	4747	NEFL	OMIM:617882
HP:0011462	Young adult onset	10654	PMVK	OMIM:175800
HP:0011462	Young adult onset	79875	THSD4	OMIM:619825
HP:0011462	Young adult onset	16	AARS1	OMIM:613287
HP:0011462	Young adult onset	199720	GGN	OMIM:619826
HP:0011462	Young adult onset	676	BRDT	OMIM:617644
HP:0011462	Young adult onset	3777	KCNK3	OMIM:615344
HP:0011462	Young adult onset	158401	SHOC1	OMIM:619949
HP:0011462	Young adult onset	5161	PDHA2	OMIM:619828
HP:0011462	Young adult onset	64170	CARD9	OMIM:212050
HP:0011462	Young adult onset	201294	UNC13D	OMIM:608898
HP:0011462	Young adult onset	1053	CEBPE	OMIM:260570
HP:0011462	Young adult onset	402381	SOHLH1	OMIM:617690
HP:0011462	Young adult onset	5265	SERPINA1	OMIM:613490
HP:0011462	Young adult onset	8991	SELENBP1	OMIM:618148
HP:0011462	Young adult onset	2100	ESR2	OMIM:618187
HP:0011462	Young adult onset	3741	KCNA5	OMIM:612240
HP:0011462	Young adult onset	3753	KCNE1	OMIM:613695
HP:0011462	Young adult onset	4897	NRCAM	OMIM:619833
HP:0011462	Young adult onset	375748	ERCC6L2	OMIM:615715
HP:0011462	Young adult onset	6606	SMN1	OMIM:253400
HP:0011462	Young adult onset	6607	SMN2	OMIM:253400
HP:0011462	Young adult onset	51284	TLR7	OMIM:301080
HP:0011462	Young adult onset	4000	LMNA	OMIM:181350
HP:0011462	Young adult onset	1280	COL2A1	OMIM:608805
HP:0011462	Young adult onset	10021	HCN4	OMIM:163800
HP:0011462	Young adult onset	5610	EIF2AK2	OMIM:619687
HP:0011462	Young adult onset	5375	PMP2	OMIM:618279
HP:0011462	Young adult onset	3972	LHB	OMIM:228300
HP:0011462	Young adult onset	7273	TTN	OMIM:608807
HP:0011462	Young adult onset	3630	INS	OMIM:125852
HP:0011462	Young adult onset	92840	REEP6	OMIM:617304
HP:0011462	Young adult onset	65055	REEP1	OMIM:614751
HP:0011462	Young adult onset	54805	CNNM2	OMIM:616418
HP:0011462	Young adult onset	11149	BVES	OMIM:616812
HP:0011462	Young adult onset	54476	RNF216	OMIM:212840
HP:0011462	Young adult onset	8526	DGKE	OMIM:615008
HP:0011462	Young adult onset	2992	GYG1	OMIM:613507
HP:0011462	Young adult onset	112476	PRRT2	OMIM:602066
HP:0011462	Young adult onset	58528	RRAGD	OMIM:620152
HP:0011462	Young adult onset	8671	SLC4A4	OMIM:604278
HP:0011462	Young adult onset	26092	TOR1AIP1	OMIM:617072
HP:0011462	Young adult onset	6772	STAT1	OMIM:614162
HP:0011462	Young adult onset	8575	PRKRA	OMIM:612067
HP:0011462	Young adult onset	138050	HGSNAT	OMIM:616544
HP:0011462	Young adult onset	23533	PIK3R5	OMIM:615217
HP:0011462	Young adult onset	3759	KCNJ2	OMIM:170390
HP:0011462	Young adult onset	51311	TLR8	OMIM:301078
HP:0011462	Young adult onset	5654	HTRA1	OMIM:600142
HP:0011462	Young adult onset	5611	DNAJC3	OMIM:616192
HP:0011462	Young adult onset	54361	WNT4	OMIM:158330
HP:0011462	Young adult onset	5428	POLG	OMIM:607459
HP:0011462	Young adult onset	56652	TWNK	OMIM:607459
HP:0011462	Young adult onset	567	B2M	OMIM:241600
HP:0011462	Young adult onset	3980	LIG3	OMIM:619780
HP:0011462	Young adult onset	79734	KCTD17	OMIM:616398
HP:0011462	Young adult onset	3762	KCNJ5	OMIM:613485
HP:0011462	Young adult onset	2583	B4GALNT1	OMIM:609195
HP:0011462	Young adult onset	144245	ALG10B	OMIM:613688
HP:0011462	Young adult onset	3757	KCNH2	OMIM:613688
HP:0011462	Young adult onset	1200	TPP1	OMIM:609270
HP:0011462	Young adult onset	10371	SEMA3A	OMIM:614897
HP:0011462	Young adult onset	950	SCARB2	OMIM:254900
HP:0011462	Young adult onset	6640	SNTA1	OMIM:612955
HP:0011462	Young adult onset	1180	CLCN1	OMIM:160800
HP:0011462	Young adult onset	338328	GPIHBP1	OMIM:615947
HP:0011462	Young adult onset	22953	P2RX2	OMIM:608224
HP:0011462	Young adult onset	1832	DSP	OMIM:607450
HP:0011462	Young adult onset	50964	SOST	OMIM:269500
HP:0011462	Young adult onset	1134	CHRNA1	OMIM:601462
HP:0011462	Young adult onset	2022	ENG	OMIM:187300
HP:0011462	Young adult onset	2624	GATA2	OMIM:614172
HP:0011462	Young adult onset	116085	SLC22A12	OMIM:220150
HP:0011462	Young adult onset	10159	ATP6AP2	OMIM:300911
HP:0011462	Young adult onset	317761	C14orf39	OMIM:619203
HP:0011462	Young adult onset	57468	SLC12A5	OMIM:616685
HP:0011462	Young adult onset	8867	SYNJ1	OMIM:615530
HP:0011462	Young adult onset	3717	JAK2	OMIM:263300
HP:0011462	Young adult onset	9896	FIG4	OMIM:612691
HP:0011462	Young adult onset	246243	RNASEH1	OMIM:616479
HP:0011462	Young adult onset	3767	KCNJ11	OMIM:610582
HP:0011462	Young adult onset	3767	KCNJ11	OMIM:616329
HP:0011462	Young adult onset	7157	TP53	OMIM:260500
HP:0011462	Young adult onset	2896	GRN	OMIM:614706
HP:0011462	Young adult onset	540	ATP7B	OMIM:277900
HP:0011462	Young adult onset	8565	YARS1	OMIM:608323
HP:0011462	Young adult onset	785	CACNB4	OMIM:607682
HP:0011462	Young adult onset	9563	H6PD	OMIM:604931
HP:0011462	Young adult onset	5663	PSEN1	OMIM:600274
HP:0011462	Young adult onset	5663	PSEN1	OMIM:613694
HP:0011462	Young adult onset	1436	CSF1R	OMIM:221820
HP:0011462	Young adult onset	4287	ATXN3	OMIM:109150
HP:0011462	Young adult onset	3930	LBR	OMIM:613471
HP:0011462	Young adult onset	1181	CLCN2	OMIM:615651
HP:0011462	Young adult onset	7515	XRCC1	OMIM:617633
HP:0011462	Young adult onset	5664	PSEN2	OMIM:613697
HP:0011462	Young adult onset	4311	MME	OMIM:617017
HP:0011462	Young adult onset	1593	CYP27A1	OMIM:213700
HP:0011462	Young adult onset	54834	GDAP2	OMIM:618369
HP:0011462	Young adult onset	311	ANXA11	OMIM:619733
HP:0011462	Young adult onset	4625	MYH7	OMIM:255160
HP:0011462	Young adult onset	84839	RAX2	OMIM:620102
HP:0011462	Young adult onset	3315	HSPB1	OMIM:606595
HP:0011462	Young adult onset	4668	NAGA	OMIM:609242
HP:0011462	Young adult onset	10059	DNM1L	OMIM:610708
HP:0011462	Young adult onset	859	CAV3	OMIM:611818
HP:0011462	Young adult onset	55863	TMEM126B	OMIM:618250
HP:0011462	Young adult onset	256471	MFSD8	OMIM:616170
HP:0011462	Young adult onset	55800	SCN3B	OMIM:613120
HP:0011462	Young adult onset	4072	EPCAM	OMIM:613244
HP:0011462	Young adult onset	3075	CFH	OMIM:126700
HP:0011462	Young adult onset	2670	GFAP	OMIM:203450
HP:0011462	Young adult onset	11232	POLG2	OMIM:610131
HP:0011462	Young adult onset	400916	CHCHD10	OMIM:615048
HP:0011462	Young adult onset	1135	CHRNA2	OMIM:610353
HP:0011462	Young adult onset	5961	PRPH2	OMIM:608161
HP:0011462	Young adult onset	219285	SAMD9L	OMIM:619806
HP:0011466	Aplasia/Hypoplasia of the gallbladder	2627	GATA6	OMIM:600001
HP:0011466	Aplasia/Hypoplasia of the gallbladder	2294	FOXF1	ORPHA:210122
HP:0011466	Aplasia/Hypoplasia of the gallbladder	23019	CNOT1	ORPHA:556955
HP:0011466	Aplasia/Hypoplasia of the gallbladder	23019	CNOT1	OMIM:618500
HP:0011466	Aplasia/Hypoplasia of the gallbladder	6651	SON	OMIM:617140
HP:0011466	Aplasia/Hypoplasia of the gallbladder	6651	SON	ORPHA:500150
HP:0011466	Aplasia/Hypoplasia of the gallbladder	57545	CC2D2A	OMIM:612284
HP:0011466	Aplasia/Hypoplasia of the gallbladder	222546	RFX6	OMIM:615710
HP:0011466	Aplasia/Hypoplasia of the gallbladder	27152	INTU	OMIM:617925
HP:0011467	Absent gallbladder	2627	GATA6	OMIM:600001
HP:0011467	Absent gallbladder	2294	FOXF1	ORPHA:210122
HP:0011467	Absent gallbladder	23019	CNOT1	ORPHA:556955
HP:0011467	Absent gallbladder	23019	CNOT1	OMIM:618500
HP:0011467	Absent gallbladder	6651	SON	OMIM:617140
HP:0011467	Absent gallbladder	6651	SON	ORPHA:500150
HP:0011467	Absent gallbladder	57545	CC2D2A	OMIM:612284
HP:0011467	Absent gallbladder	222546	RFX6	OMIM:615710
HP:0011467	Absent gallbladder	27152	INTU	OMIM:617925
HP:0011468	Facial tics	87178	PNPT1	OMIM:608703
HP:0011468	Facial tics	87178	PNPT1	ORPHA:101111
HP:0011468	Facial tics	8398	PLA2G6	OMIM:612953
HP:0011468	Facial tics	3785	KCNQ2	ORPHA:1949
HP:0011468	Facial tics	3786	KCNQ3	ORPHA:1949
HP:0011468	Facial tics	6335	SCN9A	ORPHA:33069
HP:0011468	Facial tics	6326	SCN2A	ORPHA:33069
HP:0011468	Facial tics	2554	GABRA1	ORPHA:33069
HP:0011468	Facial tics	6323	SCN1A	ORPHA:33069
HP:0011468	Facial tics	6323	SCN1A	ORPHA:569
HP:0011468	Facial tics	6324	SCN1B	ORPHA:33069
HP:0011468	Facial tics	57526	PCDH19	ORPHA:33069
HP:0011468	Facial tics	2566	GABRG2	ORPHA:33069
HP:0011468	Facial tics	773	CACNA1A	ORPHA:569
HP:0011468	Facial tics	112476	PRRT2	ORPHA:569
HP:0011468	Facial tics	477	ATP1A2	ORPHA:569
HP:0011468	Facial tics	7276	TTR	OMIM:105210
HP:0011469	Nasal regurgitation	7314	UBB	ORPHA:99772
HP:0011469	Nasal regurgitation	57822	GRHL3	ORPHA:99772
HP:0011469	Nasal regurgitation	84617	TUBB6	OMIM:617732
HP:0011469	Nasal regurgitation	60482	SLC5A7	ORPHA:98914
HP:0011469	Nasal regurgitation	4649	MYO9A	ORPHA:98914
HP:0011469	Nasal regurgitation	1305	COL13A1	ORPHA:98914
HP:0011469	Nasal regurgitation	1103	CHAT	ORPHA:98914
HP:0011469	Nasal regurgitation	6576	SLC25A1	ORPHA:98914
HP:0011469	Nasal regurgitation	6843	VAMP1	ORPHA:98914
HP:0011469	Nasal regurgitation	375790	AGRN	ORPHA:98914
HP:0011469	Nasal regurgitation	127833	SYT2	ORPHA:98914
HP:0011469	Nasal regurgitation	6572	SLC18A3	ORPHA:98914
HP:0011469	Nasal regurgitation	6616	SNAP25	ORPHA:98914
HP:0011469	Nasal regurgitation	7156	TOP3A	OMIM:618098
HP:0011461	Fetal onset	3651	PDX1	OMIM:260370
HP:0011461	Fetal onset	6134	RPL10	OMIM:300998
HP:0011461	Fetal onset	79879	CCDC134	OMIM:619795
HP:0011461	Fetal onset	10112	KIF20A	OMIM:619433
HP:0011461	Fetal onset	55388	MCM10	OMIM:619313
HP:0011461	Fetal onset	5393	EXOSC9	OMIM:618065
HP:0011461	Fetal onset	60529	ALX4	OMIM:613451
HP:0011461	Fetal onset	4000	LMNA	OMIM:619793
HP:0011461	Fetal onset	72	ACTG2	OMIM:619431
HP:0011461	Fetal onset	6873	TAF2	OMIM:615599
HP:0011461	Fetal onset	201595	STT3B	OMIM:615597
HP:0011461	Fetal onset	5885	RAD21	OMIM:614701
HP:0011461	Fetal onset	5396	PRRX1	OMIM:202650
HP:0011461	Fetal onset	10785	WDR4	OMIM:618347
HP:0011461	Fetal onset	23363	OBSL1	OMIM:612921
HP:0011461	Fetal onset	2629	GBA1	OMIM:608013
HP:0011461	Fetal onset	7681	MKRN3	OMIM:176270
HP:0011461	Fetal onset	3653	IPW	OMIM:176270
HP:0011461	Fetal onset	54551	MAGEL2	OMIM:176270
HP:0011461	Fetal onset	791114	PWRN1	OMIM:176270
HP:0011461	Fetal onset	100033413	SNORD116-1	OMIM:176270
HP:0011461	Fetal onset	8924	HERC2	OMIM:176270
HP:0011461	Fetal onset	145624	PWAR1	OMIM:176270
HP:0011461	Fetal onset	23742	NPAP1	OMIM:176270
HP:0011461	Fetal onset	338433	SNORD115-1	OMIM:176270
HP:0011461	Fetal onset	117581	TWIST2	OMIM:200110
HP:0011461	Fetal onset	9578	CDC42BPB	OMIM:619841
HP:0011461	Fetal onset	1062	CENPE	OMIM:616051
HP:0011461	Fetal onset	1630	DCC	OMIM:617542
HP:0011461	Fetal onset	6392	SDHD	OMIM:619167
HP:0011461	Fetal onset	84466	MEGF10	OMIM:614399
HP:0011461	Fetal onset	477	ATP1A2	OMIM:619602
HP:0011461	Fetal onset	5339	PLEC	OMIM:612138
HP:0011461	Fetal onset	55033	FKBP14	OMIM:614557
HP:0011461	Fetal onset	51259	TMEM216	OMIM:603194
HP:0011461	Fetal onset	1161	ERCC8	OMIM:216400
HP:0011461	Fetal onset	79158	GNPTAB	OMIM:252500
HP:0011461	Fetal onset	10683	DLL3	OMIM:277300
HP:0011461	Fetal onset	145873	MESP2	OMIM:277300
HP:0011461	Fetal onset	79068	FTO	OMIM:612938
HP:0011461	Fetal onset	64175	P3H1	OMIM:610915
HP:0011461	Fetal onset	1146	CHRNG	OMIM:265000
HP:0011461	Fetal onset	64324	NSD1	OMIM:117550
HP:0011461	Fetal onset	50619	DEF6	OMIM:619573
HP:0011461	Fetal onset	23345	SYNE1	OMIM:618484
HP:0011461	Fetal onset	7468	NSD2	OMIM:619695
HP:0011461	Fetal onset	11274	USP18	OMIM:617397
HP:0011461	Fetal onset	10606	PAICS	OMIM:619859
HP:0011461	Fetal onset	1147	CHUK	OMIM:613630
HP:0011461	Fetal onset	6499	SKIC2	OMIM:614602
HP:0011461	Fetal onset	64131	XYLT1	OMIM:615777
HP:0011461	Fetal onset	23116	TOGARAM1	OMIM:619185
HP:0011461	Fetal onset	6045	RNF2	OMIM:619460
HP:0011461	Fetal onset	6557	SLC12A1	OMIM:601678
HP:0011461	Fetal onset	57498	KIDINS220	OMIM:619501
HP:0011461	Fetal onset	57498	KIDINS220	OMIM:617296
HP:0011461	Fetal onset	127833	SYT2	OMIM:619461
HP:0011461	Fetal onset	5277	PIGA	OMIM:300868
HP:0011461	Fetal onset	80776	B9D2	OMIM:614175
HP:0011461	Fetal onset	6885	MAP3K7	OMIM:157800
HP:0011461	Fetal onset	8985	PLOD3	OMIM:612394
HP:0011461	Fetal onset	55636	CHD7	OMIM:214800
HP:0011461	Fetal onset	54872	PIGG	OMIM:616917
HP:0011461	Fetal onset	9096	TBX18	OMIM:143400
HP:0011461	Fetal onset	79053	ALG8	OMIM:608104
HP:0011461	Fetal onset	23265	EXOC7	OMIM:619072
HP:0011461	Fetal onset	51241	COX16	OMIM:619355
HP:0011461	Fetal onset	3572	IL6ST	OMIM:619751
HP:0011461	Fetal onset	9851	KIAA0753	OMIM:619479
HP:0011461	Fetal onset	4629	MYH11	OMIM:619351
HP:0011461	Fetal onset	57545	CC2D2A	OMIM:612284
HP:0011461	Fetal onset	805	CALM2	OMIM:616249
HP:0011461	Fetal onset	23443	SLC35A3	OMIM:615553
HP:0011461	Fetal onset	51692	CPSF3	OMIM:619876
HP:0011461	Fetal onset	116115	ZNF526	OMIM:619877
HP:0011461	Fetal onset	10056	FARSB	OMIM:613658
HP:0011461	Fetal onset	7168	TPM1	OMIM:611878
HP:0011461	Fetal onset	3800	KIF5C	OMIM:615282
HP:0011461	Fetal onset	5297	PI4KA	OMIM:616531
HP:0011461	Fetal onset	25802	LMOD1	OMIM:619362
HP:0011461	Fetal onset	10293	TRAIP	OMIM:616777
HP:0011461	Fetal onset	163175	LGI4	OMIM:617468
HP:0011461	Fetal onset	5500	PPP1CB	OMIM:617506
HP:0011461	Fetal onset	64135	IFIH1	OMIM:615846
HP:0011461	Fetal onset	23169	SLC35D1	OMIM:269250
HP:0011461	Fetal onset	7443	VRK1	OMIM:607596
HP:0011461	Fetal onset	6663	SOX10	OMIM:609136
HP:0011461	Fetal onset	7139	TNNT2	OMIM:601494
HP:0011461	Fetal onset	3930	LBR	OMIM:215140
HP:0011461	Fetal onset	1376	CPT2	OMIM:608836
HP:0011461	Fetal onset	23007	PLCH1	OMIM:619895
HP:0011461	Fetal onset	11014	KDELR2	OMIM:619131
HP:0011461	Fetal onset	5879	RAC1	OMIM:617751
HP:0011461	Fetal onset	10463	SLC30A9	OMIM:617595
HP:0011461	Fetal onset	374654	KIF7	OMIM:614120
HP:0011461	Fetal onset	2193	FARSA	OMIM:619013
HP:0011461	Fetal onset	10661	KLF1	OMIM:613673
HP:0011461	Fetal onset	2990	GUSB	OMIM:253220
HP:0011461	Fetal onset	2146	EZH2	OMIM:277590
HP:0011461	Fetal onset	5718	PSMD12	OMIM:617516
HP:0011461	Fetal onset	5557	PRIM1	OMIM:620005
HP:0011461	Fetal onset	7473	WNT3	OMIM:273395
HP:0011461	Fetal onset	286204	CRB2	OMIM:219730
HP:0011461	Fetal onset	7546	ZIC2	OMIM:609637
HP:0011461	Fetal onset	51626	DYNC2LI1	OMIM:617088
HP:0011461	Fetal onset	6261	RYR1	OMIM:619542
HP:0011461	Fetal onset	81570	CLPB	OMIM:616271
HP:0011461	Fetal onset	54101	RIPK4	OMIM:263650
HP:0011461	Fetal onset	57728	WDR19	OMIM:614377
HP:0011461	Fetal onset	6654	SOS1	OMIM:610733
HP:0011461	Fetal onset	7403	KDM6A	OMIM:147920
HP:0011461	Fetal onset	342035	GLDN	OMIM:617194
HP:0011461	Fetal onset	54345	SOX18	OMIM:607823
HP:0011461	Fetal onset	80347	COASY	OMIM:618266
HP:0011461	Fetal onset	51422	PRKAG2	OMIM:261740
HP:0011461	Fetal onset	112	ADCY6	OMIM:616287
HP:0011461	Fetal onset	54539	NDUFB11	OMIM:300952
HP:0011461	Fetal onset	8506	CNTNAP1	OMIM:616286
HP:0011461	Fetal onset	9631	NUP155	OMIM:615770
HP:0011461	Fetal onset	5530	PPP3CA	OMIM:618265
HP:0011461	Fetal onset	55503	TRPV6	OMIM:618188
HP:0011461	Fetal onset	5831	PYCR1	OMIM:612940
HP:0011461	Fetal onset	8777	MPDZ	OMIM:615219
HP:0011461	Fetal onset	6154	RPL26	OMIM:614900
HP:0011461	Fetal onset	57211	ADGRG6	OMIM:616503
HP:0011461	Fetal onset	9757	KMT2B	OMIM:619934
HP:0011461	Fetal onset	10269	ZMPSTE24	OMIM:275210
HP:0011461	Fetal onset	51343	FZR1	OMIM:620145
HP:0011461	Fetal onset	54675	CRLS1	OMIM:620167
HP:0011461	Fetal onset	8085	KMT2D	OMIM:620186
HP:0011461	Fetal onset	23299	BICD2	OMIM:618291
HP:0011461	Fetal onset	56945	MRPS22	OMIM:611719
HP:0011461	Fetal onset	57538	ALPK3	OMIM:618052
HP:0011461	Fetal onset	9401	RECQL4	OMIM:218600
HP:0011461	Fetal onset	197131	UBR1	OMIM:243800
HP:0011461	Fetal onset	2187	FANCB	OMIM:314390
HP:0011461	Fetal onset	7547	ZIC3	OMIM:314390
HP:0011461	Fetal onset	6616	SNAP25	OMIM:616330
HP:0011461	Fetal onset	6389	SDHA	OMIM:613642
HP:0011461	Fetal onset	8792	TNFRSF11A	OMIM:602080
HP:0011461	Fetal onset	84197	POMK	OMIM:615249
HP:0011461	Fetal onset	5340	PLG	OMIM:217090
HP:0011461	Fetal onset	55164	SHQ1	OMIM:619922
HP:0011461	Fetal onset	29969	MDFIC	OMIM:620014
HP:0011461	Fetal onset	871	SERPINH1	OMIM:613848
HP:0011461	Fetal onset	9837	GINS1	OMIM:617827
HP:0011461	Fetal onset	56052	ALG1	OMIM:608540
HP:0011461	Fetal onset	745	MYRF	OMIM:618280
HP:0011461	Fetal onset	2271	FH	OMIM:606812
HP:0011461	Fetal onset	9321	TRIP11	OMIM:200600
HP:0011461	Fetal onset	3376	IARS1	OMIM:617093
HP:0011461	Fetal onset	9928	KIF14	OMIM:617914
HP:0011461	Fetal onset	9928	KIF14	OMIM:616258
HP:0011461	Fetal onset	440193	CCDC88C	OMIM:236600
HP:0011461	Fetal onset	90993	CREB3L1	OMIM:616229
HP:0011461	Fetal onset	284086	NEK8	OMIM:615415
HP:0011461	Fetal onset	7490	WT1	OMIM:194080
HP:0011461	Fetal onset	55901	THSD1	OMIM:620244
HP:0011461	Fetal onset	64220	STRA6	OMIM:601186
HP:0011461	Fetal onset	6331	SCN5A	OMIM:603830
HP:0011461	Fetal onset	4927	NUP88	OMIM:618393
HP:0011461	Fetal onset	3897	L1CAM	OMIM:304100
HP:0011461	Fetal onset	1280	COL2A1	OMIM:200610
HP:0011461	Fetal onset	2073	ERCC5	OMIM:616570
HP:0011461	Fetal onset	54903	MKS1	OMIM:249000
HP:0011461	Fetal onset	11041	B4GAT1	OMIM:615287
HP:0011461	Fetal onset	23426	GRIP1	OMIM:617667
HP:0011461	Fetal onset	6023	RMRP	OMIM:607095
HP:0011461	Fetal onset	2674	GFRA1	OMIM:619887
HP:0011461	Fetal onset	26123	TCTN3	OMIM:614815
HP:0011461	Fetal onset	25942	SIN3A	OMIM:613406
HP:0011461	Fetal onset	4713	NDUFB7	OMIM:620135
HP:0011461	Fetal onset	60386	SLC25A19	OMIM:607196
HP:0011461	Fetal onset	2261	FGFR3	OMIM:187601
HP:0011461	Fetal onset	79770	TXNDC15	OMIM:619879
HP:0011461	Fetal onset	27077	B9D1	OMIM:614209
HP:0011461	Fetal onset	6862	TBXT	OMIM:615709
HP:0011461	Fetal onset	168667	BMPER	OMIM:608022
HP:0001821	Broad nail	8517	IKBKG	ORPHA:464
HP:0001821	Broad nail	84818	IL17RC	ORPHA:1334
HP:0001821	Broad nail	64581	CLEC7A	ORPHA:1334
HP:0001821	Broad nail	23765	IL17RA	ORPHA:1334
HP:0001821	Broad nail	10758	TRAF3IP2	ORPHA:1334
HP:0001821	Broad nail	112744	IL17F	ORPHA:1334
HP:0001821	Broad nail	3248	HPGD	ORPHA:217059
HP:0001821	Broad nail	3549	IHH	OMIM:607778
HP:0001821	Broad nail	3549	IHH	ORPHA:63446
HP:0001821	Broad nail	112752	IFT43	OMIM:614099
HP:0001821	Broad nail	2273	FHL1	OMIM:300280
HP:0008410	Subungual hyperkeratotic fragments	488	ATP2A2	ORPHA:218
HP:0008410	Subungual hyperkeratotic fragments	488	ATP2A2	OMIM:124200
HP:0001795	Hyperconvex nail	8626	TP63	OMIM:106260
HP:0001795	Hyperconvex nail	51371	POMP	OMIM:601952
HP:0001795	Hyperconvex nail	170302	ARX	OMIM:300004
HP:0001795	Hyperconvex nail	3021	H3-3B	OMIM:619721
HP:0001795	Hyperconvex nail	4998	ORC1	OMIM:224690
HP:0001795	Hyperconvex nail	1889	ECE1	OMIM:613870
HP:0001795	Hyperconvex nail	3248	HPGD	ORPHA:217059
HP:0001795	Hyperconvex nail	100151683	RNU4ATAC	ORPHA:353298
HP:0001795	Hyperconvex nail	25942	SIN3A	OMIM:613406
HP:0001795	Hyperconvex nail	26040	SETBP1	OMIM:269150
HP:0001795	Hyperconvex nail	6925	TCF4	OMIM:610954
HP:0001795	Hyperconvex nail	55650	PIGV	OMIM:239300
HP:0001795	Hyperconvex nail	6197	RPS6KA3	OMIM:303600
HP:0001795	Hyperconvex nail	6197	RPS6KA3	ORPHA:192
HP:0001795	Hyperconvex nail	5339	PLEC	ORPHA:257
HP:0001795	Hyperconvex nail	51360	MBTPS2	ORPHA:2273
HP:0001795	Hyperconvex nail	9791	PTDSS1	ORPHA:2658
HP:0001795	Hyperconvex nail	53834	FGFRL1	OMIM:194190
HP:0001795	Hyperconvex nail	1487	CTBP1	OMIM:194190
HP:0001795	Hyperconvex nail	3954	LETM1	OMIM:194190
HP:0001795	Hyperconvex nail	7468	NSD2	OMIM:194190
HP:0001795	Hyperconvex nail	10815	CPLX1	OMIM:194190
HP:0008414	Lumbar kyphosis in infancy	2261	FGFR3	OMIM:100800
HP:0001254	Lethargy	1374	CPT1A	ORPHA:156
HP:0001254	Lethargy	1374	CPT1A	OMIM:255120
HP:0001254	Lethargy	4594	MMUT	ORPHA:289916
HP:0001254	Lethargy	4594	MMUT	ORPHA:79312
HP:0001254	Lethargy	4594	MMUT	OMIM:251000
HP:0001254	Lethargy	4524	MTHFR	ORPHA:395
HP:0001254	Lethargy	54539	NDUFB11	ORPHA:2609
HP:0001254	Lethargy	25915	NDUFAF3	ORPHA:2609
HP:0001254	Lethargy	51103	NDUFAF1	ORPHA:2609
HP:0001254	Lethargy	91942	NDUFAF2	ORPHA:2609
HP:0001254	Lethargy	51300	TIMMDC1	ORPHA:2609
HP:0001254	Lethargy	4716	NDUFB10	ORPHA:2609
HP:0001254	Lethargy	4723	NDUFV1	ORPHA:2609
HP:0001254	Lethargy	4723	NDUFV1	OMIM:618225
HP:0001254	Lethargy	55572	FOXRED1	ORPHA:2609
HP:0001254	Lethargy	284184	NDUFAF8	ORPHA:2609
HP:0001254	Lethargy	55863	TMEM126B	ORPHA:2609
HP:0001254	Lethargy	4535	MT-ND1	ORPHA:2609
HP:0001254	Lethargy	4537	MT-ND3	ORPHA:2609
HP:0001254	Lethargy	4729	NDUFV2	ORPHA:2609
HP:0001254	Lethargy	4694	NDUFA1	ORPHA:2609
HP:0001254	Lethargy	4720	NDUFS2	ORPHA:2609
HP:0001254	Lethargy	4720	NDUFS2	OMIM:618228
HP:0001254	Lethargy	4724	NDUFS4	ORPHA:2609
HP:0001254	Lethargy	4724	NDUFS4	OMIM:252010
HP:0001254	Lethargy	4726	NDUFS6	ORPHA:2609
HP:0001254	Lethargy	4726	NDUFS6	OMIM:618232
HP:0001254	Lethargy	4728	NDUFS8	ORPHA:2609
HP:0001254	Lethargy	4722	NDUFS3	ORPHA:2609
HP:0001254	Lethargy	79133	NDUFAF5	ORPHA:2609
HP:0001254	Lethargy	126328	NDUFA11	ORPHA:2609
HP:0001254	Lethargy	4709	NDUFB3	ORPHA:2609
HP:0001254	Lethargy	80224	NUBPL	ORPHA:2609
HP:0001254	Lethargy	29078	NDUFAF4	ORPHA:2609
HP:0001254	Lethargy	374291	NDUFS7	ORPHA:2609
HP:0001254	Lethargy	374291	NDUFS7	OMIM:618224
HP:0001254	Lethargy	4700	NDUFA6	ORPHA:2609
HP:0001254	Lethargy	4536	MT-ND2	ORPHA:2609
HP:0001254	Lethargy	4719	NDUFS1	ORPHA:2609
HP:0001254	Lethargy	4719	NDUFS1	OMIM:618226
HP:0001254	Lethargy	4715	NDUFB9	ORPHA:2609
HP:0001254	Lethargy	229	ALDOB	OMIM:229600
HP:0001254	Lethargy	229	ALDOB	ORPHA:469
HP:0001254	Lethargy	5009	OTC	OMIM:311250
HP:0001254	Lethargy	54820	NDE1	ORPHA:2177
HP:0001254	Lethargy	148738	HJV	OMIM:602390
HP:0001254	Lethargy	148738	HJV	ORPHA:79230
HP:0001254	Lethargy	2731	GLDC	OMIM:605899
HP:0001254	Lethargy	275	AMT	OMIM:605899
HP:0001254	Lethargy	79783	SUGCT	ORPHA:35706
HP:0001254	Lethargy	4552	MTRR	OMIM:236270
HP:0001254	Lethargy	4552	MTRR	ORPHA:2169
HP:0001254	Lethargy	7849	PAX8	OMIM:218700
HP:0001254	Lethargy	1376	CPT2	OMIM:600649
HP:0001254	Lethargy	1376	CPT2	OMIM:608836
HP:0001254	Lethargy	55788	LMBRD1	OMIM:277380
HP:0001254	Lethargy	55788	LMBRD1	ORPHA:79284
HP:0001254	Lethargy	3141	HLCS	OMIM:253270
HP:0001254	Lethargy	3141	HLCS	ORPHA:79242
HP:0001254	Lethargy	7253	TSHR	ORPHA:90673
HP:0001254	Lethargy	7252	TSHB	ORPHA:90674
HP:0001254	Lethargy	1738	DLD	ORPHA:2394
HP:0001254	Lethargy	1738	DLD	OMIM:246900
HP:0001254	Lethargy	686	BTD	OMIM:253260
HP:0001254	Lethargy	686	BTD	ORPHA:79241
HP:0001254	Lethargy	36	ACADSB	OMIM:610006
HP:0001254	Lethargy	64087	MCCC2	OMIM:210210
HP:0001254	Lethargy	79087	ALG12	OMIM:607143
HP:0001254	Lethargy	5095	PCCA	OMIM:606054
HP:0001254	Lethargy	5096	PCCB	OMIM:606054
HP:0001254	Lethargy	9377	COX5A	OMIM:619064
HP:0001254	Lethargy	23400	ATP13A2	ORPHA:306674
HP:0001254	Lethargy	388962	BOLA3	OMIM:614299
HP:0001254	Lethargy	55065	SLC52A1	OMIM:615026
HP:0001254	Lethargy	1591	CYP24A1	OMIM:143880
HP:0001254	Lethargy	28514	DLL1	ORPHA:93926
HP:0001254	Lethargy	28514	DLL1	ORPHA:93924
HP:0001254	Lethargy	28514	DLL1	ORPHA:93925
HP:0001254	Lethargy	28514	DLL1	ORPHA:220386
HP:0001254	Lethargy	2253	FGF8	ORPHA:93926
HP:0001254	Lethargy	2253	FGF8	ORPHA:93924
HP:0001254	Lethargy	2253	FGF8	ORPHA:93925
HP:0001254	Lethargy	2253	FGF8	ORPHA:220386
HP:0001254	Lethargy	6496	SIX3	ORPHA:93926
HP:0001254	Lethargy	6496	SIX3	ORPHA:93924
HP:0001254	Lethargy	6496	SIX3	ORPHA:93925
HP:0001254	Lethargy	6496	SIX3	ORPHA:220386
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93926
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93924
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93925
HP:0001254	Lethargy	7050	TGIF1	ORPHA:220386
HP:0001254	Lethargy	4838	NODAL	ORPHA:93926
HP:0001254	Lethargy	4838	NODAL	ORPHA:93924
HP:0001254	Lethargy	4838	NODAL	ORPHA:93925
HP:0001254	Lethargy	4838	NODAL	ORPHA:220386
HP:0001254	Lethargy	6469	SHH	ORPHA:93926
HP:0001254	Lethargy	6469	SHH	ORPHA:93924
HP:0001254	Lethargy	6469	SHH	ORPHA:93925
HP:0001254	Lethargy	6469	SHH	ORPHA:220386
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93926
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93924
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93925
HP:0001254	Lethargy	7546	ZIC2	ORPHA:220386
HP:0001254	Lethargy	6491	STIL	ORPHA:93926
HP:0001254	Lethargy	6491	STIL	ORPHA:93924
HP:0001254	Lethargy	6491	STIL	ORPHA:93925
HP:0001254	Lethargy	6491	STIL	ORPHA:220386
HP:0001254	Lethargy	2619	GAS1	ORPHA:93926
HP:0001254	Lethargy	2619	GAS1	ORPHA:93924
HP:0001254	Lethargy	2619	GAS1	ORPHA:93925
HP:0001254	Lethargy	2619	GAS1	ORPHA:220386
HP:0001254	Lethargy	84976	DISP1	ORPHA:93926
HP:0001254	Lethargy	84976	DISP1	ORPHA:93924
HP:0001254	Lethargy	84976	DISP1	ORPHA:93925
HP:0001254	Lethargy	84976	DISP1	ORPHA:220386
HP:0001254	Lethargy	2736	GLI2	ORPHA:93926
HP:0001254	Lethargy	2736	GLI2	ORPHA:93924
HP:0001254	Lethargy	2736	GLI2	ORPHA:93925
HP:0001254	Lethargy	2736	GLI2	ORPHA:220386
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93926
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93924
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93925
HP:0001254	Lethargy	8928	FOXH1	ORPHA:220386
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93926
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93924
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93925
HP:0001254	Lethargy	5727	PTCH1	ORPHA:220386
HP:0001254	Lethargy	50937	CDON	ORPHA:93926
HP:0001254	Lethargy	50937	CDON	ORPHA:93924
HP:0001254	Lethargy	50937	CDON	ORPHA:93925
HP:0001254	Lethargy	50937	CDON	ORPHA:220386
HP:0001254	Lethargy	51021	MRPS16	OMIM:610498
HP:0001254	Lethargy	56922	MCCC1	OMIM:210200
HP:0001254	Lethargy	2260	FGFR1	ORPHA:93924
HP:0001254	Lethargy	2260	FGFR1	ORPHA:220386
HP:0001254	Lethargy	23007	PLCH1	ORPHA:93925
HP:0001254	Lethargy	10735	STAG2	ORPHA:93925
HP:0001254	Lethargy	10735	STAG2	ORPHA:220386
HP:0001254	Lethargy	5826	ABCD4	OMIM:614857
HP:0001254	Lethargy	788	SLC25A20	ORPHA:159
HP:0001254	Lethargy	788	SLC25A20	OMIM:212138
HP:0001254	Lethargy	9056	SLC7A7	ORPHA:470
HP:0001254	Lethargy	51594	NBAS	OMIM:616483
HP:0001254	Lethargy	6521	SLC4A1	OMIM:611590
HP:0001254	Lethargy	1629	DBT	OMIM:248600
HP:0001254	Lethargy	593	BCKDHA	OMIM:248600
HP:0001254	Lethargy	594	BCKDHB	OMIM:248600
HP:0001254	Lethargy	5626	PROP1	ORPHA:226307
HP:0001254	Lethargy	89884	LHX4	ORPHA:226307
HP:0001254	Lethargy	8022	LHX3	ORPHA:226307
HP:0001254	Lethargy	5449	POU1F1	ORPHA:226307
HP:0001254	Lethargy	8820	HESX1	ORPHA:226307
HP:0001254	Lethargy	4519	MT-CYB	ORPHA:137675
HP:0001254	Lethargy	5828	PEX2	OMIM:614866
HP:0001254	Lethargy	2643	GCH1	OMIM:233910
HP:0001254	Lethargy	90624	LYRM7	OMIM:615838
HP:0001254	Lethargy	80704	SLC19A3	OMIM:607483
HP:0001254	Lethargy	166785	MMAA	OMIM:251100
HP:0001254	Lethargy	50506	DUOX2	ORPHA:226316
HP:0001254	Lethargy	50506	DUOX2	ORPHA:95716
HP:0001254	Lethargy	6506	SLC1A2	OMIM:617105
HP:0001254	Lethargy	29110	TBK1	OMIM:617900
HP:0001254	Lethargy	34	ACADM	ORPHA:42
HP:0001254	Lethargy	34	ACADM	OMIM:201450
HP:0001254	Lethargy	55739	NAXD	OMIM:618321
HP:0001254	Lethargy	84833	ATP5MK	OMIM:618683
HP:0001254	Lethargy	162417	NAGS	ORPHA:927
HP:0001254	Lethargy	162417	NAGS	OMIM:237310
HP:0001254	Lethargy	654	BMP6	ORPHA:465508
HP:0001254	Lethargy	3077	HFE	ORPHA:465508
HP:0001254	Lethargy	10165	SLC25A13	ORPHA:247585
HP:0001254	Lethargy	6261	RYR1	ORPHA:324581
HP:0001254	Lethargy	6261	RYR1	ORPHA:466650
HP:0001254	Lethargy	445	ASS1	OMIM:215700
HP:0001254	Lethargy	7201	TRHR	ORPHA:99832
HP:0001254	Lethargy	7201	TRHR	OMIM:618573
HP:0001254	Lethargy	6528	SLC5A5	OMIM:274400
HP:0001254	Lethargy	6528	SLC5A5	ORPHA:95716
HP:0001254	Lethargy	1967	EIF2B1	OMIM:603896
HP:0001254	Lethargy	6135	RPL11	ORPHA:124
HP:0001254	Lethargy	6138	RPL15	ORPHA:124
HP:0001254	Lethargy	6229	RPS24	ORPHA:124
HP:0001254	Lethargy	6125	RPL5	ORPHA:124
HP:0001254	Lethargy	6204	RPS10	ORPHA:124
HP:0001254	Lethargy	6224	RPS20	ORPHA:124
HP:0001254	Lethargy	6165	RPL35A	ORPHA:124
HP:0001254	Lethargy	2623	GATA1	ORPHA:124
HP:0001254	Lethargy	6223	RPS19	ORPHA:124
HP:0001254	Lethargy	6232	RPS27	ORPHA:124
HP:0001254	Lethargy	6231	RPS26	ORPHA:124
HP:0001254	Lethargy	11224	RPL35	ORPHA:124
HP:0001254	Lethargy	6160	RPL31	ORPHA:124
HP:0001254	Lethargy	6218	RPS17	ORPHA:124
HP:0001254	Lethargy	6201	RPS7	ORPHA:124
HP:0001254	Lethargy	6155	RPL27	ORPHA:124
HP:0001254	Lethargy	6154	RPL26	ORPHA:124
HP:0001254	Lethargy	6210	RPS15A	ORPHA:124
HP:0001254	Lethargy	90121	TSR2	ORPHA:124
HP:0001254	Lethargy	6141	RPL18	ORPHA:124
HP:0001254	Lethargy	6235	RPS29	ORPHA:124
HP:0001254	Lethargy	6234	RPS28	ORPHA:124
HP:0001254	Lethargy	51816	ADA2	ORPHA:124
HP:0001254	Lethargy	27247	NFU1	OMIM:605711
HP:0001254	Lethargy	6927	HNF1A	ORPHA:324575
HP:0001254	Lethargy	51067	YARS2	OMIM:613561
HP:0001254	Lethargy	7351	UCP2	ORPHA:276556
HP:0001254	Lethargy	79751	SLC25A22	ORPHA:1935
HP:0001254	Lethargy	150094	SIK1	ORPHA:1935
HP:0001254	Lethargy	8260	NAA10	ORPHA:276432
HP:0001254	Lethargy	6513	SLC2A1	ORPHA:71277
HP:0001254	Lethargy	6513	SLC2A1	OMIM:606777
HP:0001254	Lethargy	291	SLC25A4	ORPHA:254892
HP:0001254	Lethargy	5428	POLG	ORPHA:254892
HP:0001254	Lethargy	56652	TWNK	ORPHA:254892
HP:0001254	Lethargy	11232	POLG2	ORPHA:254892
HP:0001254	Lethargy	50484	RRM2B	ORPHA:254892
HP:0001254	Lethargy	3155	HMGCL	ORPHA:20
HP:0001254	Lethargy	5076	PAX2	ORPHA:97362
HP:0001254	Lethargy	5087	PBX1	ORPHA:97362
HP:0001254	Lethargy	763	CA5A	OMIM:615751
HP:0001254	Lethargy	6948	TCN2	OMIM:275350
HP:0001254	Lethargy	3875	KRT18	OMIM:215600
HP:0001254	Lethargy	9256	TSPOAP1	ORPHA:101150
HP:0001254	Lethargy	7054	TH	ORPHA:101150
HP:0001254	Lethargy	27249	MMADHC	OMIM:277410
HP:0001254	Lethargy	27249	MMADHC	ORPHA:79283
HP:0001254	Lethargy	5160	PDHA1	OMIM:312170
HP:0001254	Lethargy	1806	DPYD	OMIM:274270
HP:0001254	Lethargy	6492	SIM1	ORPHA:398079
HP:0001254	Lethargy	10560	SLC19A2	ORPHA:49827
HP:0001254	Lethargy	1644	DDC	OMIM:608643
HP:0001254	Lethargy	2561	GABRB2	OMIM:617829
HP:0001254	Lethargy	443	ASPA	ORPHA:314911
HP:0001254	Lethargy	6833	ABCC8	ORPHA:276575
HP:0001254	Lethargy	2710	GK	OMIM:307030
HP:0001254	Lethargy	10166	SLC25A15	ORPHA:415
HP:0001254	Lethargy	10166	SLC25A15	OMIM:238970
HP:0001254	Lethargy	2592	GALT	ORPHA:79239
HP:0001254	Lethargy	3767	KCNJ11	ORPHA:276580
HP:0001254	Lethargy	513	ATP5F1D	OMIM:618120
HP:0001254	Lethargy	7019	TFAM	OMIM:617156
HP:0001254	Lethargy	11274	USP18	OMIM:617397
HP:0001254	Lethargy	405753	DUOXA2	ORPHA:95716
HP:0001254	Lethargy	7038	TG	ORPHA:95716
HP:0001254	Lethargy	7173	TPO	ORPHA:95716
HP:0001254	Lethargy	389434	IYD	ORPHA:95716
HP:0001254	Lethargy	54551	MAGEL2	ORPHA:398069
HP:0001254	Lethargy	5277	PIGA	ORPHA:447
HP:0001254	Lethargy	3712	IVD	OMIM:243500
HP:0001254	Lethargy	3172	HNF4A	ORPHA:263455
HP:0001254	Lethargy	55630	SLC39A4	OMIM:201100
HP:0001254	Lethargy	7098	TLR3	OMIM:613002
HP:0001254	Lethargy	57817	HAMP	ORPHA:79230
HP:0001254	Lethargy	326625	MMAB	OMIM:251110
HP:0001254	Lethargy	9997	SCO2	OMIM:604377
HP:0001254	Lethargy	37	ACADVL	OMIM:201475
HP:0001254	Lethargy	37	ACADVL	ORPHA:26793
HP:0001254	Lethargy	4576	MT-TT	ORPHA:254857
HP:0001254	Lethargy	35	ACADS	OMIM:201470
HP:0001254	Lethargy	35	ACADS	ORPHA:26792
HP:0001254	Lethargy	435	ASL	OMIM:207900
HP:0001254	Lethargy	54796	BNC2	ORPHA:93110
HP:0001254	Lethargy	3032	HADHB	ORPHA:746
HP:0001254	Lethargy	3030	HADHA	ORPHA:746
HP:0001254	Lethargy	3030	HADHA	OMIM:609015
HP:0001254	Lethargy	4221	MEN1	ORPHA:97279
HP:0001254	Lethargy	4221	MEN1	ORPHA:652
HP:0001254	Lethargy	7528	YY1	ORPHA:97279
HP:0001254	Lethargy	60558	GUF1	OMIM:617065
HP:0001254	Lethargy	2998	GYS2	ORPHA:2089
HP:0001254	Lethargy	57038	RARS2	OMIM:611523
HP:0001254	Lethargy	3033	HADH	ORPHA:71212
HP:0001254	Lethargy	10551	AGR2	OMIM:620233
HP:0001254	Lethargy	1027	CDKN1B	ORPHA:652
HP:0001254	Lethargy	1026	CDKN1A	ORPHA:652
HP:0001254	Lethargy	1030	CDKN2B	ORPHA:652
HP:0001254	Lethargy	1031	CDKN2C	ORPHA:652
HP:0001254	Lethargy	2203	FBP1	OMIM:229700
HP:0001254	Lethargy	551	AVP	ORPHA:30925
HP:0001254	Lethargy	8243	SMC1A	ORPHA:220386
HP:0001254	Lethargy	60386	SLC25A19	OMIM:613710
HP:0001254	Lethargy	25974	MMACHC	ORPHA:79282
HP:0001254	Lethargy	25974	MMACHC	OMIM:277400
HP:0001254	Lethargy	55005	RMND1	OMIM:614922
HP:0001254	Lethargy	1807	DPYS	OMIM:222748
HP:0001254	Lethargy	18	ABAT	OMIM:613163
HP:0001254	Lethargy	9054	NFS1	OMIM:619386
HP:0001254	Lethargy	1373	CPS1	OMIM:237300
HP:0001254	Lethargy	26275	HIBCH	OMIM:250620
HP:0001254	Lethargy	5052	PRDX1	OMIM:277400
HP:0001254	Lethargy	6584	SLC22A5	OMIM:212140
HP:0001257	Spasticity	1718	DHCR24	OMIM:602398
HP:0001257	Spasticity	1718	DHCR24	ORPHA:35107
HP:0001257	Spasticity	10749	KIF1C	ORPHA:397946
HP:0001257	Spasticity	10749	KIF1C	OMIM:611302
HP:0001257	Spasticity	4287	ATXN3	OMIM:109150
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276238
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276244
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276241
HP:0001257	Spasticity	104	ADARB1	OMIM:618862
HP:0001257	Spasticity	23019	CNOT1	OMIM:618500
HP:0001257	Spasticity	9853	RUSC2	OMIM:617773
HP:0001257	Spasticity	55823	VPS11	OMIM:616683
HP:0001257	Spasticity	55823	VPS11	ORPHA:466934
HP:0001257	Spasticity	4750	NEK1	OMIM:617892
HP:0001257	Spasticity	4750	NEK1	ORPHA:803
HP:0001257	Spasticity	51569	UFM1	OMIM:617899
HP:0001257	Spasticity	6873	TAF2	OMIM:615599
HP:0001257	Spasticity	6873	TAF2	ORPHA:397951
HP:0001257	Spasticity	7360	UGP2	OMIM:618744
HP:0001257	Spasticity	81857	MED25	OMIM:616449
HP:0001257	Spasticity	81857	MED25	ORPHA:464738
HP:0001257	Spasticity	1786	DNMT1	ORPHA:314404
HP:0001257	Spasticity	1786	DNMT1	OMIM:604121
HP:0001257	Spasticity	4535	MT-ND1	ORPHA:255210
HP:0001257	Spasticity	4536	MT-ND2	ORPHA:255210
HP:0001257	Spasticity	4537	MT-ND3	ORPHA:255210
HP:0001257	Spasticity	4538	MT-ND4	ORPHA:255210
HP:0001257	Spasticity	4567	MT-TL1	ORPHA:255210
HP:0001257	Spasticity	4567	MT-TL1	OMIM:545000
HP:0001257	Spasticity	4578	MT-TW	ORPHA:255210
HP:0001257	Spasticity	4577	MT-TV	ORPHA:255210
HP:0001257	Spasticity	4540	MT-ND5	ORPHA:255210
HP:0001257	Spasticity	4541	MT-ND6	ORPHA:255210
HP:0001257	Spasticity	4566	MT-TK	ORPHA:255210
HP:0001257	Spasticity	4566	MT-TK	OMIM:545000
HP:0001257	Spasticity	3074	HEXB	ORPHA:309169
HP:0001257	Spasticity	3074	HEXB	ORPHA:309155
HP:0001257	Spasticity	3074	HEXB	OMIM:268800
HP:0001257	Spasticity	3020	H3-3A	OMIM:619720
HP:0001257	Spasticity	65993	MRPS34	OMIM:617664
HP:0001257	Spasticity	10300	KATNB1	OMIM:616212
HP:0001257	Spasticity	2670	GFAP	OMIM:203450
HP:0001257	Spasticity	2670	GFAP	ORPHA:363722
HP:0001257	Spasticity	2670	GFAP	ORPHA:363717
HP:0001257	Spasticity	166378	AFG2A	OMIM:616577
HP:0001257	Spasticity	5610	EIF2AK2	OMIM:618877
HP:0001257	Spasticity	5610	EIF2AK2	OMIM:619687
HP:0001257	Spasticity	57231	SNX14	ORPHA:397709
HP:0001257	Spasticity	57231	SNX14	OMIM:616354
HP:0001257	Spasticity	288	ANK3	OMIM:615493
HP:0001257	Spasticity	288	ANK3	ORPHA:356996
HP:0001257	Spasticity	7343	UBTF	OMIM:617672
HP:0001257	Spasticity	7343	UBTF	ORPHA:500180
HP:0001257	Spasticity	10111	RAD50	OMIM:613078
HP:0001257	Spasticity	3064	HTT	OMIM:617435
HP:0001257	Spasticity	55681	SCYL2	OMIM:618766
HP:0001257	Spasticity	5191	PEX7	OMIM:215100
HP:0001257	Spasticity	2697	GJA1	ORPHA:2710
HP:0001257	Spasticity	2697	GJA1	OMIM:164200
HP:0001257	Spasticity	283987	HID1	OMIM:619983
HP:0001257	Spasticity	4558	MT-TF	OMIM:545000
HP:0001257	Spasticity	4571	MT-TP	OMIM:545000
HP:0001257	Spasticity	4565	MT-TI	OMIM:545000
HP:0001257	Spasticity	6712	SPTBN2	OMIM:615386
HP:0001257	Spasticity	6712	SPTBN2	ORPHA:352403
HP:0001257	Spasticity	25930	PTPN23	OMIM:618890
HP:0001257	Spasticity	5833	PCYT2	OMIM:618770
HP:0001257	Spasticity	388962	BOLA3	OMIM:614299
HP:0001257	Spasticity	28514	DLL1	ORPHA:93926
HP:0001257	Spasticity	28514	DLL1	ORPHA:93924
HP:0001257	Spasticity	28514	DLL1	ORPHA:93925
HP:0001257	Spasticity	28514	DLL1	ORPHA:220386
HP:0001257	Spasticity	2253	FGF8	ORPHA:93926
HP:0001257	Spasticity	2253	FGF8	ORPHA:93924
HP:0001257	Spasticity	2253	FGF8	ORPHA:93925
HP:0001257	Spasticity	2253	FGF8	ORPHA:220386
HP:0001257	Spasticity	6496	SIX3	ORPHA:93926
HP:0001257	Spasticity	6496	SIX3	ORPHA:93924
HP:0001257	Spasticity	6496	SIX3	ORPHA:93925
HP:0001257	Spasticity	6496	SIX3	ORPHA:220386
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93926
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93924
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93925
HP:0001257	Spasticity	7050	TGIF1	ORPHA:220386
HP:0001257	Spasticity	4838	NODAL	ORPHA:93926
HP:0001257	Spasticity	4838	NODAL	ORPHA:93924
HP:0001257	Spasticity	4838	NODAL	ORPHA:93925
HP:0001257	Spasticity	4838	NODAL	ORPHA:220386
HP:0001257	Spasticity	6469	SHH	ORPHA:93926
HP:0001257	Spasticity	6469	SHH	ORPHA:93924
HP:0001257	Spasticity	6469	SHH	ORPHA:93925
HP:0001257	Spasticity	6469	SHH	ORPHA:220386
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93926
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93924
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93925
HP:0001257	Spasticity	7546	ZIC2	ORPHA:220386
HP:0001257	Spasticity	6491	STIL	ORPHA:93926
HP:0001257	Spasticity	6491	STIL	ORPHA:93924
HP:0001257	Spasticity	6491	STIL	ORPHA:93925
HP:0001257	Spasticity	6491	STIL	ORPHA:220386
HP:0001257	Spasticity	2619	GAS1	ORPHA:93926
HP:0001257	Spasticity	2619	GAS1	ORPHA:93924
HP:0001257	Spasticity	2619	GAS1	ORPHA:93925
HP:0001257	Spasticity	2619	GAS1	ORPHA:220386
HP:0001257	Spasticity	84976	DISP1	ORPHA:93926
HP:0001257	Spasticity	84976	DISP1	ORPHA:93924
HP:0001257	Spasticity	84976	DISP1	ORPHA:93925
HP:0001257	Spasticity	84976	DISP1	ORPHA:220386
HP:0001257	Spasticity	2736	GLI2	ORPHA:93926
HP:0001257	Spasticity	2736	GLI2	ORPHA:93924
HP:0001257	Spasticity	2736	GLI2	ORPHA:93925
HP:0001257	Spasticity	2736	GLI2	ORPHA:220386
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93926
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93924
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93925
HP:0001257	Spasticity	8928	FOXH1	ORPHA:220386
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93926
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93924
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93925
HP:0001257	Spasticity	5727	PTCH1	ORPHA:220386
HP:0001257	Spasticity	50937	CDON	ORPHA:93926
HP:0001257	Spasticity	50937	CDON	ORPHA:93924
HP:0001257	Spasticity	50937	CDON	ORPHA:93925
HP:0001257	Spasticity	50937	CDON	ORPHA:220386
HP:0001257	Spasticity	2260	FGFR1	ORPHA:93924
HP:0001257	Spasticity	2260	FGFR1	ORPHA:2396
HP:0001257	Spasticity	2260	FGFR1	ORPHA:220386
HP:0001257	Spasticity	23007	PLCH1	ORPHA:93925
HP:0001257	Spasticity	10735	STAG2	ORPHA:93925
HP:0001257	Spasticity	10735	STAG2	ORPHA:220386
HP:0001257	Spasticity	79731	NARS2	OMIM:616239
HP:0001257	Spasticity	54832	VPS13C	ORPHA:2828
HP:0001257	Spasticity	54832	VPS13C	OMIM:616840
HP:0001257	Spasticity	11315	PARK7	ORPHA:2828
HP:0001257	Spasticity	27429	HTRA2	ORPHA:2828
HP:0001257	Spasticity	120892	LRRK2	ORPHA:2828
HP:0001257	Spasticity	9829	DNAJC6	ORPHA:2828
HP:0001257	Spasticity	9829	DNAJC6	OMIM:615528
HP:0001257	Spasticity	6622	SNCA	ORPHA:2828
HP:0001257	Spasticity	6622	SNCA	ORPHA:171695
HP:0001257	Spasticity	5420	PODXL	ORPHA:2828
HP:0001257	Spasticity	65018	PINK1	ORPHA:2828
HP:0001257	Spasticity	5071	PRKN	ORPHA:2828
HP:0001257	Spasticity	3737	KCNA2	ORPHA:442835
HP:0001257	Spasticity	8120	AP3B2	ORPHA:442835
HP:0001257	Spasticity	10991	SLC38A3	ORPHA:442835
HP:0001257	Spasticity	51343	FZR1	ORPHA:442835
HP:0001257	Spasticity	51343	FZR1	OMIM:620145
HP:0001257	Spasticity	22906	TRAK1	ORPHA:442835
HP:0001257	Spasticity	22906	TRAK1	OMIM:618201
HP:0001257	Spasticity	2566	GABRG2	ORPHA:442835
HP:0001257	Spasticity	1917	EEF1A2	ORPHA:442835
HP:0001257	Spasticity	2561	GABRB2	ORPHA:442835
HP:0001257	Spasticity	2561	GABRB2	OMIM:617829
HP:0001257	Spasticity	8831	SYNGAP1	ORPHA:442835
HP:0001257	Spasticity	7532	YWHAG	ORPHA:442835
HP:0001257	Spasticity	2558	GABRA5	ORPHA:442835
HP:0001257	Spasticity	2558	GABRA5	OMIM:618559
HP:0001257	Spasticity	781	CACNA2D1	ORPHA:442835
HP:0001257	Spasticity	781	CACNA2D1	OMIM:620149
HP:0001257	Spasticity	2906	GRIN2D	ORPHA:442835
HP:0001257	Spasticity	10659	CELF2	ORPHA:442835
HP:0001257	Spasticity	774	CACNA1B	ORPHA:442835
HP:0001257	Spasticity	23334	SZT2	ORPHA:442835
HP:0001257	Spasticity	348980	HCN1	ORPHA:442835
HP:0001257	Spasticity	6506	SLC1A2	ORPHA:442835
HP:0001257	Spasticity	6506	SLC1A2	OMIM:617105
HP:0001257	Spasticity	2258	FGF13	ORPHA:442835
HP:0001257	Spasticity	477	ATP1A2	ORPHA:442835
HP:0001257	Spasticity	3745	KCNB1	ORPHA:442835
HP:0001257	Spasticity	284111	SLC13A5	ORPHA:442835
HP:0001257	Spasticity	284111	SLC13A5	ORPHA:1946
HP:0001257	Spasticity	284111	SLC13A5	OMIM:615905
HP:0001257	Spasticity	25977	NECAP1	ORPHA:442835
HP:0001257	Spasticity	6334	SCN8A	ORPHA:442835
HP:0001257	Spasticity	22866	CNKSR2	ORPHA:442835
HP:0001257	Spasticity	9568	GABBR2	ORPHA:442835
HP:0001257	Spasticity	9568	GABBR2	ORPHA:3095
HP:0001257	Spasticity	2555	GABRA2	ORPHA:442835
HP:0001257	Spasticity	2555	GABRA2	OMIM:618557
HP:0001257	Spasticity	55152	DALRD3	ORPHA:442835
HP:0001257	Spasticity	773	CACNA1A	ORPHA:442835
HP:0001257	Spasticity	26999	CYFIP2	ORPHA:442835
HP:0001257	Spasticity	26999	CYFIP2	OMIM:618008
HP:0001257	Spasticity	25973	PARS2	ORPHA:442835
HP:0001257	Spasticity	25973	PARS2	OMIM:618437
HP:0001257	Spasticity	23097	CDK19	ORPHA:442835
HP:0001257	Spasticity	64801	ARV1	ORPHA:442835
HP:0001257	Spasticity	79947	DHDDS	ORPHA:442835
HP:0001257	Spasticity	79947	DHDDS	OMIM:613861
HP:0001257	Spasticity	2257	FGF12	ORPHA:442835
HP:0001257	Spasticity	5530	PPP3CA	ORPHA:442835
HP:0001257	Spasticity	5530	PPP3CA	OMIM:617711
HP:0001257	Spasticity	478	ATP1A3	ORPHA:442835
HP:0001257	Spasticity	5654	HTRA1	ORPHA:199354
HP:0001257	Spasticity	5654	HTRA1	OMIM:600142
HP:0001257	Spasticity	2911	GRM1	OMIM:617691
HP:0001257	Spasticity	29081	METTL5	OMIM:618665
HP:0001257	Spasticity	55773	TBC1D23	OMIM:617695
HP:0001257	Spasticity	1182	CLCN3	OMIM:619517
HP:0001257	Spasticity	92609	TIMM50	OMIM:617698
HP:0001257	Spasticity	92609	TIMM50	ORPHA:505216
HP:0001257	Spasticity	51692	CPSF3	OMIM:619876
HP:0001257	Spasticity	8021	NUP214	OMIM:618426
HP:0001257	Spasticity	285362	SUMF1	OMIM:272200
HP:0001257	Spasticity	8517	IKBKG	ORPHA:464
HP:0001257	Spasticity	8517	IKBKG	OMIM:308300
HP:0001257	Spasticity	472	ATM	ORPHA:100
HP:0001257	Spasticity	4644	MYO5A	ORPHA:33445
HP:0001257	Spasticity	9533	POLR1C	OMIM:616494
HP:0001257	Spasticity	54828	BCAS3	OMIM:619641
HP:0001257	Spasticity	79991	STN1	OMIM:617341
HP:0001257	Spasticity	9276	COPB2	OMIM:619884
HP:0001257	Spasticity	9276	COPB2	OMIM:617800
HP:0001257	Spasticity	122961	ISCA2	OMIM:616370
HP:0001257	Spasticity	8733	GPAA1	ORPHA:529665
HP:0001257	Spasticity	8733	GPAA1	OMIM:617810
HP:0001257	Spasticity	27086	FOXP1	ORPHA:391372
HP:0001257	Spasticity	253959	RALGAPA1	OMIM:618797
HP:0001257	Spasticity	11041	B4GAT1	OMIM:615287
HP:0001257	Spasticity	2232	FDXR	ORPHA:543470
HP:0001257	Spasticity	113179	ADAT3	OMIM:615286
HP:0001257	Spasticity	113179	ADAT3	ORPHA:363528
HP:0001257	Spasticity	6942	TCF20	OMIM:618430
HP:0001257	Spasticity	56947	MFF	ORPHA:485421
HP:0001257	Spasticity	56947	MFF	OMIM:617086
HP:0001257	Spasticity	2904	GRIN2B	OMIM:616139
HP:0001257	Spasticity	2904	GRIN2B	OMIM:613970
HP:0001257	Spasticity	146227	BEAN1	ORPHA:217012
HP:0001257	Spasticity	11261	CHP1	OMIM:618438
HP:0001257	Spasticity	9968	MED12	OMIM:305450
HP:0001257	Spasticity	38	ACAT1	ORPHA:134
HP:0001257	Spasticity	4854	NOTCH3	ORPHA:136
HP:0001257	Spasticity	23556	PIGN	OMIM:614080
HP:0001257	Spasticity	23162	MAPK8IP3	OMIM:618443
HP:0001257	Spasticity	6324	SCN1B	OMIM:617350
HP:0001257	Spasticity	6324	SCN1B	ORPHA:1934
HP:0001257	Spasticity	79989	IFT56	OMIM:619534
HP:0001257	Spasticity	125988	MICOS13	OMIM:618329
HP:0001257	Spasticity	23499	MACF1	OMIM:618325
HP:0001257	Spasticity	23499	MACF1	ORPHA:572013
HP:0001257	Spasticity	374969	SVBP	OMIM:618569
HP:0001257	Spasticity	404672	GTF2H5	ORPHA:33364
HP:0001257	Spasticity	833	CARS1	ORPHA:33364
HP:0001257	Spasticity	2068	ERCC2	ORPHA:33364
HP:0001257	Spasticity	2068	ERCC2	ORPHA:910
HP:0001257	Spasticity	2068	ERCC2	ORPHA:220295
HP:0001257	Spasticity	2068	ERCC2	OMIM:278730
HP:0001257	Spasticity	7737	RNF113A	ORPHA:33364
HP:0001257	Spasticity	136647	MPLKIP	ORPHA:33364
HP:0001257	Spasticity	6897	TARS1	ORPHA:33364
HP:0001257	Spasticity	2071	ERCC3	ORPHA:33364
HP:0001257	Spasticity	2071	ERCC3	ORPHA:910
HP:0001257	Spasticity	2071	ERCC3	ORPHA:220295
HP:0001257	Spasticity	2961	GTF2E2	ORPHA:33364
HP:0001257	Spasticity	79641	ROGDI	ORPHA:1946
HP:0001257	Spasticity	79641	ROGDI	OMIM:226750
HP:0001257	Spasticity	8813	DPM1	ORPHA:79322
HP:0001257	Spasticity	1967	EIF2B1	OMIM:603896
HP:0001257	Spasticity	9896	FIG4	ORPHA:208441
HP:0001257	Spasticity	9896	FIG4	ORPHA:803
HP:0001257	Spasticity	7040	TGFB1	OMIM:618213
HP:0001257	Spasticity	205327	C2orf69	OMIM:619423
HP:0001257	Spasticity	133686	NADK2	OMIM:616034
HP:0001257	Spasticity	3658	IREB2	OMIM:618451
HP:0001257	Spasticity	164	AP1G1	OMIM:619548
HP:0001257	Spasticity	164	AP1G1	OMIM:619467
HP:0001257	Spasticity	6792	CDKL5	ORPHA:1934
HP:0001257	Spasticity	6792	CDKL5	ORPHA:3095
HP:0001257	Spasticity	9091	PIGQ	ORPHA:1934
HP:0001257	Spasticity	2775	GNAO1	ORPHA:1934
HP:0001257	Spasticity	2775	GNAO1	OMIM:617493
HP:0001257	Spasticity	81603	TRIM8	ORPHA:1934
HP:0001257	Spasticity	79751	SLC25A22	ORPHA:1934
HP:0001257	Spasticity	79751	SLC25A22	OMIM:609304
HP:0001257	Spasticity	150094	SIK1	ORPHA:1934
HP:0001257	Spasticity	8573	CASK	ORPHA:1934
HP:0001257	Spasticity	8573	CASK	OMIM:300749
HP:0001257	Spasticity	8573	CASK	ORPHA:163937
HP:0001257	Spasticity	23312	DMXL2	ORPHA:1934
HP:0001257	Spasticity	2917	GRM7	ORPHA:1934
HP:0001257	Spasticity	11284	PNKP	ORPHA:1934
HP:0001257	Spasticity	51227	PIGP	ORPHA:1934
HP:0001257	Spasticity	4761	NEUROD2	ORPHA:1934
HP:0001257	Spasticity	1203	CLN5	ORPHA:228360
HP:0001257	Spasticity	84894	LINGO1	OMIM:618103
HP:0001257	Spasticity	10785	WDR4	OMIM:618346
HP:0001257	Spasticity	85476	GFM1	OMIM:609060
HP:0001257	Spasticity	128869	PIGU	OMIM:618590
HP:0001257	Spasticity	22854	NTNG1	ORPHA:3095
HP:0001257	Spasticity	6651	SON	OMIM:617140
HP:0001257	Spasticity	6651	SON	ORPHA:500150
HP:0001257	Spasticity	10978	CLP1	ORPHA:411493
HP:0001257	Spasticity	10978	CLP1	OMIM:615803
HP:0001257	Spasticity	112939	NACC1	ORPHA:500545
HP:0001257	Spasticity	112939	NACC1	OMIM:617393
HP:0001257	Spasticity	1654	DDX3X	ORPHA:457260
HP:0001257	Spasticity	1654	DDX3X	OMIM:300958
HP:0001257	Spasticity	6833	ABCC8	OMIM:240800
HP:0001257	Spasticity	387119	CEP85L	ORPHA:572013
HP:0001257	Spasticity	1725	DHPS	OMIM:618480
HP:0001257	Spasticity	427	ASAH1	ORPHA:333
HP:0001257	Spasticity	56915	EXOSC5	OMIM:619576
HP:0001257	Spasticity	51132	RLIM	OMIM:300978
HP:0001257	Spasticity	10588	MTHFS	OMIM:618367
HP:0001257	Spasticity	63925	ZNF335	OMIM:615095
HP:0001257	Spasticity	92255	LMBRD2	OMIM:619694
HP:0001257	Spasticity	80224	NUBPL	OMIM:618242
HP:0001257	Spasticity	54834	GDAP2	OMIM:618369
HP:0001257	Spasticity	3376	IARS1	ORPHA:541423
HP:0001257	Spasticity	3376	IARS1	OMIM:617093
HP:0001257	Spasticity	29920	PYCR2	ORPHA:481152
HP:0001257	Spasticity	29920	PYCR2	OMIM:616420
HP:0001257	Spasticity	23203	PMPCA	OMIM:213200
HP:0001257	Spasticity	23203	PMPCA	ORPHA:1170
HP:0001257	Spasticity	4864	NPC1	OMIM:257220
HP:0001257	Spasticity	8604	SLC25A12	OMIM:612949
HP:0001257	Spasticity	538	ATP7A	ORPHA:565
HP:0001257	Spasticity	1781	DYNC1I2	OMIM:618492
HP:0001257	Spasticity	112812	FDX2	OMIM:251900
HP:0001257	Spasticity	51102	MECR	OMIM:617282
HP:0001257	Spasticity	51102	MECR	ORPHA:508093
HP:0001257	Spasticity	2743	GLRB	ORPHA:3197
HP:0001257	Spasticity	2741	GLRA1	ORPHA:3197
HP:0001257	Spasticity	10243	GPHN	ORPHA:3197
HP:0001257	Spasticity	84896	ATAD1	ORPHA:3197
HP:0001257	Spasticity	9152	SLC6A5	ORPHA:3197
HP:0001257	Spasticity	2009	EML1	OMIM:600348
HP:0001257	Spasticity	9757	KMT2B	OMIM:617284
HP:0001257	Spasticity	9758	FRMPD4	OMIM:300983
HP:0001257	Spasticity	4700	NDUFA6	OMIM:618253
HP:0001257	Spasticity	8635	RNASET2	OMIM:612951
HP:0001257	Spasticity	64374	SIL1	ORPHA:559
HP:0001257	Spasticity	64374	SIL1	OMIM:248800
HP:0001257	Spasticity	6697	SPR	OMIM:612716
HP:0001257	Spasticity	57187	THOC2	OMIM:300957
HP:0001257	Spasticity	27107	ZBTB11	OMIM:618383
HP:0001257	Spasticity	2892	GRIA3	ORPHA:364028
HP:0001257	Spasticity	9927	MFN2	OMIM:609260
HP:0001257	Spasticity	378884	NHLRC1	ORPHA:501
HP:0001257	Spasticity	7957	EPM2A	ORPHA:501
HP:0001257	Spasticity	2571	GAD1	OMIM:619124
HP:0001257	Spasticity	23287	AGTPBP1	OMIM:618276
HP:0001257	Spasticity	23287	AGTPBP1	ORPHA:2254
HP:0001257	Spasticity	55670	PEX26	ORPHA:772
HP:0001257	Spasticity	5824	PEX19	ORPHA:772
HP:0001257	Spasticity	5828	PEX2	ORPHA:772
HP:0001257	Spasticity	8799	PEX11B	ORPHA:772
HP:0001257	Spasticity	5830	PEX5	ORPHA:772
HP:0001257	Spasticity	5189	PEX1	ORPHA:772
HP:0001257	Spasticity	5193	PEX12	ORPHA:772
HP:0001257	Spasticity	5194	PEX13	ORPHA:772
HP:0001257	Spasticity	5195	PEX14	ORPHA:772
HP:0001257	Spasticity	5192	PEX10	ORPHA:772
HP:0001257	Spasticity	1315	COPB1	OMIM:619255
HP:0001257	Spasticity	4668	NAGA	OMIM:609241
HP:0001257	Spasticity	4668	NAGA	ORPHA:79279
HP:0001257	Spasticity	727676	SNORD118	ORPHA:542310
HP:0001257	Spasticity	727676	SNORD118	OMIM:614561
HP:0001257	Spasticity	283	ANG	OMIM:611895
HP:0001257	Spasticity	283	ANG	ORPHA:803
HP:0001257	Spasticity	5216	PFN1	OMIM:614808
HP:0001257	Spasticity	5216	PFN1	ORPHA:803
HP:0001257	Spasticity	23236	PLCB1	OMIM:613722
HP:0001257	Spasticity	11342	RNF13	ORPHA:544503
HP:0001257	Spasticity	27445	PCLO	OMIM:608027
HP:0001257	Spasticity	50640	PNPLA8	OMIM:251950
HP:0001257	Spasticity	11113	CIT	OMIM:617090
HP:0001257	Spasticity	27183	VPS4A	OMIM:619273
HP:0001257	Spasticity	10128	LRPPRC	OMIM:220111
HP:0001257	Spasticity	10128	LRPPRC	ORPHA:70472
HP:0001257	Spasticity	2643	GCH1	OMIM:128230
HP:0001257	Spasticity	6535	SLC6A8	OMIM:300352
HP:0001257	Spasticity	375	ARF1	OMIM:618185
HP:0001257	Spasticity	8506	CNTNAP1	OMIM:618186
HP:0001257	Spasticity	5393	EXOSC9	OMIM:618065
HP:0001257	Spasticity	5393	EXOSC9	ORPHA:2254
HP:0001257	Spasticity	83700	JAM3	OMIM:613730
HP:0001257	Spasticity	1593	CYP27A1	OMIM:213700
HP:0001257	Spasticity	1593	CYP27A1	ORPHA:909
HP:0001257	Spasticity	25821	MTO1	OMIM:614702
HP:0001257	Spasticity	55624	POMGNT1	OMIM:253280
HP:0001257	Spasticity	4983	OPHN1	OMIM:300486
HP:0001257	Spasticity	9442	MED27	OMIM:619286
HP:0001257	Spasticity	6311	ATXN2	OMIM:183090
HP:0001257	Spasticity	6311	ATXN2	ORPHA:803
HP:0001257	Spasticity	25914	RTTN	OMIM:614833
HP:0001257	Spasticity	25914	RTTN	ORPHA:468631
HP:0001257	Spasticity	9640	ZNF592	ORPHA:83472
HP:0001257	Spasticity	9915	ARNT2	OMIM:615926
HP:0001257	Spasticity	57582	KCNT1	OMIM:614959
HP:0001257	Spasticity	150468	CKAP2L	ORPHA:3255
HP:0001257	Spasticity	4718	NDUFC2	OMIM:619170
HP:0001257	Spasticity	1738	DLD	ORPHA:2394
HP:0001257	Spasticity	1351	COX8A	OMIM:619059
HP:0001257	Spasticity	64207	IRF2BPL	OMIM:618088
HP:0001257	Spasticity	5119	CHMP1A	OMIM:614961
HP:0001257	Spasticity	3845	KRAS	ORPHA:2396
HP:0001257	Spasticity	1509	CTSD	OMIM:610127
HP:0001257	Spasticity	23325	WASHC4	OMIM:615817
HP:0001257	Spasticity	7276	TTR	OMIM:105210
HP:0001257	Spasticity	1678	TIMM8A	OMIM:304700
HP:0001257	Spasticity	815	CAMK2A	OMIM:618095
HP:0001257	Spasticity	9839	ZEB2	ORPHA:261552
HP:0001257	Spasticity	9839	ZEB2	ORPHA:261537
HP:0001257	Spasticity	9445	ITM2B	OMIM:117300
HP:0001257	Spasticity	9445	ITM2B	OMIM:176500
HP:0001257	Spasticity	26053	AUTS2	ORPHA:352490
HP:0001257	Spasticity	26090	ABHD12	OMIM:612674
HP:0001257	Spasticity	10382	TUBB4A	OMIM:612438
HP:0001257	Spasticity	84947	SERAC1	OMIM:614739
HP:0001257	Spasticity	2395	FXN	ORPHA:95
HP:0001257	Spasticity	2512	FTL	OMIM:606159
HP:0001257	Spasticity	7025	NR2F1	ORPHA:401777
HP:0001257	Spasticity	7025	NR2F1	OMIM:615722
HP:0001257	Spasticity	149371	EXOC8	OMIM:619076
HP:0001257	Spasticity	6804	STX1A	ORPHA:904
HP:0001257	Spasticity	7461	CLIP2	ORPHA:904
HP:0001257	Spasticity	84277	DNAJC30	ORPHA:904
HP:0001257	Spasticity	8468	FKBP6	ORPHA:904
HP:0001257	Spasticity	5982	RFC2	ORPHA:904
HP:0001257	Spasticity	2969	GTF2I	ORPHA:904
HP:0001257	Spasticity	3984	LIMK1	ORPHA:904
HP:0001257	Spasticity	9569	GTF2IRD1	ORPHA:904
HP:0001257	Spasticity	155382	VPS37D	ORPHA:904
HP:0001257	Spasticity	155368	METTL27	ORPHA:904
HP:0001257	Spasticity	114049	BUD23	ORPHA:904
HP:0001257	Spasticity	7458	EIF4H	ORPHA:904
HP:0001257	Spasticity	84163	GTF2IRD2	ORPHA:904
HP:0001257	Spasticity	9275	BCL7B	ORPHA:904
HP:0001257	Spasticity	26608	TBL2	ORPHA:904
HP:0001257	Spasticity	653361	NCF1	ORPHA:904
HP:0001257	Spasticity	135886	TMEM270	ORPHA:904
HP:0001257	Spasticity	51085	MLXIPL	ORPHA:904
HP:0001257	Spasticity	9031	BAZ1B	ORPHA:904
HP:0001257	Spasticity	2006	ELN	ORPHA:904
HP:0001257	Spasticity	51010	EXOSC3	ORPHA:2254
HP:0001257	Spasticity	51010	EXOSC3	OMIM:614678
HP:0001257	Spasticity	7443	VRK1	ORPHA:2254
HP:0001257	Spasticity	91137	SLC25A46	ORPHA:2254
HP:0001257	Spasticity	2073	ERCC5	OMIM:278780
HP:0001257	Spasticity	2073	ERCC5	ORPHA:910
HP:0001257	Spasticity	2073	ERCC5	ORPHA:220295
HP:0001257	Spasticity	1282	COL4A1	OMIM:175780
HP:0001257	Spasticity	9990	SLC12A6	OMIM:620068
HP:0001257	Spasticity	6609	SMPD1	OMIM:257200
HP:0001257	Spasticity	6558	SLC12A2	OMIM:619083
HP:0001257	Spasticity	56623	INPP5E	OMIM:610156
HP:0001257	Spasticity	9440	MED17	OMIM:613668
HP:0001257	Spasticity	25828	TXN2	OMIM:616811
HP:0001257	Spasticity	84919	PPP1R15B	OMIM:616817
HP:0001257	Spasticity	6908	TBP	ORPHA:98759
HP:0001257	Spasticity	22880	MORC2	OMIM:619090
HP:0001257	Spasticity	50628	GEMIN4	OMIM:617913
HP:0001257	Spasticity	2146	EZH2	OMIM:277590
HP:0001257	Spasticity	2146	EZH2	ORPHA:3447
HP:0001257	Spasticity	3954	LETM1	OMIM:620089
HP:0001257	Spasticity	25978	CHMP2B	ORPHA:803
HP:0001257	Spasticity	3178	HNRNPA1	ORPHA:803
HP:0001257	Spasticity	8148	TAF15	ORPHA:803
HP:0001257	Spasticity	5445	PON2	ORPHA:803
HP:0001257	Spasticity	9217	VAPB	ORPHA:803
HP:0001257	Spasticity	8878	SQSTM1	ORPHA:803
HP:0001257	Spasticity	5630	PRPH	ORPHA:803
HP:0001257	Spasticity	5630	PRPH	OMIM:105400
HP:0001257	Spasticity	29110	TBK1	ORPHA:803
HP:0001257	Spasticity	55830	GLT8D1	ORPHA:803
HP:0001257	Spasticity	755	CFAP410	ORPHA:803
HP:0001257	Spasticity	10891	PPARGC1A	ORPHA:803
HP:0001257	Spasticity	10133	OPTN	ORPHA:803
HP:0001257	Spasticity	1639	DCTN1	ORPHA:803
HP:0001257	Spasticity	1639	DCTN1	OMIM:105400
HP:0001257	Spasticity	5444	PON1	ORPHA:803
HP:0001257	Spasticity	5446	PON3	ORPHA:803
HP:0001257	Spasticity	4744	NEFH	ORPHA:803
HP:0001257	Spasticity	4744	NEFH	OMIM:105400
HP:0001257	Spasticity	9782	MATR3	ORPHA:803
HP:0001257	Spasticity	54209	TREM2	ORPHA:803
HP:0001257	Spasticity	54209	TREM2	ORPHA:2770
HP:0001257	Spasticity	23435	TARDBP	ORPHA:803
HP:0001257	Spasticity	23435	TARDBP	OMIM:612069
HP:0001257	Spasticity	29978	UBQLN2	ORPHA:803
HP:0001257	Spasticity	2733	GLE1	ORPHA:803
HP:0001257	Spasticity	2043	EPHA4	ORPHA:803
HP:0001257	Spasticity	1610	DAO	ORPHA:803
HP:0001257	Spasticity	2066	ERBB4	ORPHA:803
HP:0001257	Spasticity	311	ANXA11	ORPHA:803
HP:0001257	Spasticity	23025	UNC13A	ORPHA:803
HP:0001257	Spasticity	899	CCNF	ORPHA:803
HP:0001257	Spasticity	400916	CHCHD10	ORPHA:803
HP:0001257	Spasticity	64324	NSD1	ORPHA:3447
HP:0001257	Spasticity	8726	EED	ORPHA:3447
HP:0001257	Spasticity	23512	SUZ12	ORPHA:3447
HP:0001257	Spasticity	84978	FRMD5	OMIM:620094
HP:0001257	Spasticity	80207	OPA3	OMIM:258501
HP:0001257	Spasticity	9894	TELO2	OMIM:616954
HP:0001257	Spasticity	9894	TELO2	ORPHA:488642
HP:0001257	Spasticity	57410	SCYL1	OMIM:616719
HP:0001257	Spasticity	57410	SCYL1	ORPHA:466794
HP:0001257	Spasticity	9230	RAB11B	OMIM:617807
HP:0001257	Spasticity	6310	ATXN1	OMIM:164400
HP:0001257	Spasticity	7507	XPA	ORPHA:910
HP:0001257	Spasticity	7507	XPA	OMIM:278700
HP:0001257	Spasticity	7508	XPC	ORPHA:910
HP:0001257	Spasticity	1643	DDB2	ORPHA:910
HP:0001257	Spasticity	55906	ZC4H2	OMIM:301041
HP:0001257	Spasticity	55906	ZC4H2	OMIM:314580
HP:0001257	Spasticity	7167	TPI1	OMIM:615512
HP:0001257	Spasticity	9698	PUM1	OMIM:617931
HP:0001257	Spasticity	29926	GMPPA	OMIM:615510
HP:0001257	Spasticity	2290	FOXG1	OMIM:613454
HP:0001257	Spasticity	53616	ADAM22	OMIM:617933
HP:0001257	Spasticity	23600	AMACR	OMIM:614307
HP:0001257	Spasticity	91147	TMEM67	OMIM:216360
HP:0001257	Spasticity	55187	VPS13D	OMIM:607317
HP:0001257	Spasticity	3748	KCNC3	OMIM:605259
HP:0001257	Spasticity	57505	AARS2	OMIM:615889
HP:0001257	Spasticity	79644	SRD5A3	OMIM:612379
HP:0001257	Spasticity	91869	RFT1	OMIM:612015
HP:0001257	Spasticity	2891	GRIA2	OMIM:618917
HP:0001257	Spasticity	6314	ATXN7	OMIM:164500
HP:0001257	Spasticity	23732	FRRS1L	OMIM:616981
HP:0001257	Spasticity	9512	PMPCB	OMIM:617954
HP:0001257	Spasticity	2058	EPRS1	OMIM:617951
HP:0001257	Spasticity	54463	RETREG1	OMIM:613115
HP:0001257	Spasticity	100506658	OCLN	ORPHA:1229
HP:0001257	Spasticity	100506658	OCLN	OMIM:251290
HP:0001257	Spasticity	84693	MCEE	OMIM:251120
HP:0001257	Spasticity	5422	POLA1	OMIM:301030
HP:0001257	Spasticity	1641	DCX	OMIM:300067
HP:0001257	Spasticity	175	AGA	OMIM:208400
HP:0001257	Spasticity	55644	OSGEP	OMIM:617729
HP:0001257	Spasticity	112858	TP53RK	OMIM:617730
HP:0001257	Spasticity	8270	LAGE3	OMIM:301006
HP:0001257	Spasticity	81689	ISCA1	OMIM:617613
HP:0001257	Spasticity	51002	TPRKB	OMIM:617731
HP:0001257	Spasticity	7305	TYROBP	ORPHA:2770
HP:0001257	Spasticity	7305	TYROBP	OMIM:221770
HP:0001257	Spasticity	22934	RPIA	OMIM:608611
HP:0001257	Spasticity	25915	NDUFAF3	ORPHA:70474
HP:0001257	Spasticity	4714	NDUFB8	ORPHA:70474
HP:0001257	Spasticity	9997	SCO2	ORPHA:70474
HP:0001257	Spasticity	23209	MLC1	OMIM:604004
HP:0001257	Spasticity	26503	SLC17A5	OMIM:604369
HP:0001257	Spasticity	79042	TSEN34	ORPHA:2524
HP:0001257	Spasticity	79867	TCTN2	OMIM:616654
HP:0001257	Spasticity	3832	KIF11	ORPHA:2526
HP:0001257	Spasticity	57570	TRMT5	OMIM:616539
HP:0001257	Spasticity	617	BCS1L	OMIM:124000
HP:0001257	Spasticity	84628	NTNG2	OMIM:618718
HP:0001257	Spasticity	10577	NPC2	OMIM:607625
HP:0001257	Spasticity	5873	RAB27A	OMIM:607624
HP:0001257	Spasticity	54888	NSUN2	OMIM:611091
HP:0001257	Spasticity	54802	TRIT1	OMIM:617873
HP:0001257	Spasticity	23545	ATP6V0A2	ORPHA:357074
HP:0001257	Spasticity	529	ATP6V1E1	ORPHA:357074
HP:0001257	Spasticity	5538	PPT1	OMIM:256730
HP:0001257	Spasticity	100151683	RNU4ATAC	ORPHA:2636
HP:0001257	Spasticity	9439	MED23	OMIM:614249
HP:0001257	Spasticity	79583	TMEM231	ORPHA:2752
HP:0001257	Spasticity	1468	SLC25A10	OMIM:618972
HP:0001257	Spasticity	8884	SLC5A6	OMIM:618973
HP:0001257	Spasticity	8803	SUCLA2	OMIM:612073
HP:0001257	Spasticity	4747	NEFL	OMIM:617882
HP:0001257	Spasticity	80169	CTC1	OMIM:612199
HP:0001257	Spasticity	10844	TUBGCP2	OMIM:618737
HP:0001257	Spasticity	4858	NOVA2	OMIM:618859
HP:0001257	Spasticity	55753	OGDHL	OMIM:619701
HP:0001257	Spasticity	3119	HLA-DQB1	OMIM:126200
HP:0001257	Spasticity	5133	PDCD1	OMIM:126200
HP:0001257	Spasticity	3123	HLA-DRB1	OMIM:126200
HP:0001257	Spasticity	3912	LAMB1	OMIM:615191
HP:0001257	Spasticity	8504	PEX3	OMIM:617370
HP:0001257	Spasticity	4125	MAN2B1	ORPHA:309282
HP:0001257	Spasticity	9131	AIFM1	ORPHA:83629
HP:0001257	Spasticity	55182	RNF220	OMIM:619688
HP:0001257	Spasticity	518	ATP5MC3	OMIM:619681
HP:0001257	Spasticity	5077	PAX3	ORPHA:896
HP:0001257	Spasticity	5077	PAX3	OMIM:148820
HP:0001257	Spasticity	51324	SPG21	OMIM:248900
HP:0001257	Spasticity	10059	DNM1L	ORPHA:98673
HP:0001257	Spasticity	64834	ELOVL1	OMIM:618527
HP:0001257	Spasticity	7920	ABHD16A	OMIM:619735
HP:0001257	Spasticity	546	ATRX	ORPHA:847
HP:0001257	Spasticity	1130	LYST	ORPHA:167
HP:0001257	Spasticity	26154	ABCA12	OMIM:601277
HP:0001257	Spasticity	2632	GBE1	OMIM:263570
HP:0001257	Spasticity	23064	SETX	ORPHA:357043
HP:0001257	Spasticity	953	ENTPD1	OMIM:615683
HP:0001257	Spasticity	83636	C19orf12	OMIM:615043
HP:0001257	Spasticity	8139	GAN	OMIM:256850
HP:0001257	Spasticity	84842	HPDL	OMIM:619026
HP:0001257	Spasticity	84842	HPDL	OMIM:619027
HP:0001257	Spasticity	84706	GPT2	ORPHA:477673
HP:0001257	Spasticity	55656	INTS8	OMIM:618572
HP:0001257	Spasticity	137492	VPS37A	OMIM:614898
HP:0001257	Spasticity	1499	CTNNB1	OMIM:615075
HP:0001257	Spasticity	8367	H4C5	OMIM:619950
HP:0001257	Spasticity	8260	NAA10	OMIM:309800
HP:0001257	Spasticity	54880	BCOR	OMIM:309800
HP:0001257	Spasticity	8905	AP1S2	ORPHA:85335
HP:0001257	Spasticity	6711	SPTBN1	OMIM:619475
HP:0001257	Spasticity	25782	RAB3GAP2	OMIM:614225
HP:0001257	Spasticity	25782	RAB3GAP2	OMIM:212720
HP:0001257	Spasticity	4860	PNP	OMIM:613179
HP:0001257	Spasticity	8050	PDHX	ORPHA:255182
HP:0001257	Spasticity	51218	GLRX5	ORPHA:401866
HP:0001257	Spasticity	51218	GLRX5	OMIM:616859
HP:0001257	Spasticity	100147744	RNU7-1	OMIM:619487
HP:0001257	Spasticity	6872	TAF1	OMIM:300966
HP:0001257	Spasticity	6872	TAF1	ORPHA:480907
HP:0001257	Spasticity	1615	DARS1	OMIM:615281
HP:0001257	Spasticity	2316	FLNA	OMIM:300048
HP:0001257	Spasticity	3295	HSD17B4	OMIM:233400
HP:0001257	Spasticity	224	ALDH3A2	ORPHA:816
HP:0001257	Spasticity	10084	PQBP1	ORPHA:93947
HP:0001257	Spasticity	10166	SLC25A15	OMIM:238970
HP:0001257	Spasticity	16	AARS1	OMIM:619691
HP:0001257	Spasticity	55250	ELP2	OMIM:617270
HP:0001257	Spasticity	54	ACP5	OMIM:607944
HP:0001257	Spasticity	22930	RAB3GAP1	OMIM:600118
HP:0001257	Spasticity	22930	RAB3GAP1	OMIM:619420
HP:0001257	Spasticity	4915	NTRK2	OMIM:617830
HP:0001257	Spasticity	10381	TUBB3	ORPHA:300570
HP:0001257	Spasticity	4697	NDUFA4	OMIM:619065
HP:0001257	Spasticity	120	ADD3	OMIM:617008
HP:0001257	Spasticity	128989	TANGO2	OMIM:616878
HP:0001257	Spasticity	4990	SIX6	OMIM:206900
HP:0001257	Spasticity	6657	SOX2	OMIM:206900
HP:0001257	Spasticity	10075	HUWE1	OMIM:309590
HP:0001257	Spasticity	3028	HSD17B10	ORPHA:391428
HP:0001257	Spasticity	84065	TMEM222	OMIM:619470
HP:0001257	Spasticity	5354	PLP1	ORPHA:280224
HP:0001257	Spasticity	5354	PLP1	ORPHA:280219
HP:0001257	Spasticity	11340	EXOSC8	OMIM:616081
HP:0001257	Spasticity	8243	SMC1A	OMIM:301044
HP:0001257	Spasticity	10617	STAMBP	OMIM:614261
HP:0001257	Spasticity	51399	TRAPPC4	OMIM:618741
HP:0001257	Spasticity	84879	MFSD2A	OMIM:616486
HP:0001257	Spasticity	6659	SOX4	OMIM:618506
HP:0001257	Spasticity	7355	SLC35A2	ORPHA:356961
HP:0001257	Spasticity	84334	COA8	ORPHA:436271
HP:0001257	Spasticity	84334	COA8	OMIM:619061
HP:0001257	Spasticity	90624	LYRM7	OMIM:615838
HP:0001257	Spasticity	6571	SLC18A2	ORPHA:352649
HP:0001257	Spasticity	5631	PRPS1	ORPHA:423479
HP:0001257	Spasticity	60558	GUF1	OMIM:617065
HP:0001257	Spasticity	6647	SOD1	OMIM:618598
HP:0001257	Spasticity	51601	LIPT1	OMIM:616299
HP:0001257	Spasticity	387787	LIPT2	OMIM:617668
HP:0001257	Spasticity	473	RERE	OMIM:616975
HP:0001257	Spasticity	4010	LMX1B	ORPHA:495818
HP:0001257	Spasticity	79152	FA2H	ORPHA:171629
HP:0001257	Spasticity	79152	FA2H	OMIM:612319
HP:0001257	Spasticity	498	ATP5F1A	OMIM:620358
HP:0001257	Spasticity	79944	L2HGDH	OMIM:236792
HP:0001257	Spasticity	79944	L2HGDH	ORPHA:79314
HP:0001257	Spasticity	2192	FBLN1	ORPHA:404451
HP:0001257	Spasticity	284403	WDR62	OMIM:604317
HP:0001257	Spasticity	51204	TACO1	OMIM:619052
HP:0001257	Spasticity	2937	GSS	OMIM:266130
HP:0001257	Spasticity	65055	REEP1	ORPHA:101011
HP:0001257	Spasticity	348	APOE	OMIM:607822
HP:0001257	Spasticity	5663	PSEN1	OMIM:607822
HP:0001257	Spasticity	4001	LMNB1	OMIM:619179
HP:0001257	Spasticity	4508	MT-ATP6	ORPHA:225154
HP:0001257	Spasticity	23636	NUP62	ORPHA:225154
HP:0001257	Spasticity	3899	AFF3	OMIM:619297
HP:0001257	Spasticity	215	ABCD1	ORPHA:139396
HP:0001257	Spasticity	6389	SDHA	ORPHA:3208
HP:0001257	Spasticity	6390	SDHB	ORPHA:3208
HP:0001257	Spasticity	6392	SDHD	ORPHA:3208
HP:0001257	Spasticity	29960	MRM2	OMIM:618567
HP:0001257	Spasticity	10195	ALG3	ORPHA:79321
HP:0001257	Spasticity	10195	ALG3	OMIM:601110
HP:0001257	Spasticity	124454	EARS2	OMIM:614924
HP:0001257	Spasticity	29968	PSAT1	ORPHA:284417
HP:0001257	Spasticity	1968	EIF2S3	OMIM:300148
HP:0001257	Spasticity	58497	PRUNE1	OMIM:617481
HP:0001257	Spasticity	58497	PRUNE1	ORPHA:544469
HP:0001257	Spasticity	221692	PHACTR1	OMIM:618298
HP:0001257	Spasticity	523	ATP6V1A	OMIM:618012
HP:0001257	Spasticity	3785	KCNQ2	OMIM:613720
HP:0001257	Spasticity	54808	DYM	ORPHA:239
HP:0001257	Spasticity	2760	GM2A	OMIM:272750
HP:0001257	Spasticity	4524	MTHFR	ORPHA:395
HP:0001257	Spasticity	340533	NEXMIF	OMIM:300912
HP:0001257	Spasticity	1183	CLCN4	OMIM:300114
HP:0001257	Spasticity	1183	CLCN4	ORPHA:485350
HP:0001257	Spasticity	23345	SYNE1	ORPHA:88644
HP:0001257	Spasticity	1355	COX15	OMIM:615119
HP:0001257	Spasticity	23314	SATB2	ORPHA:251028
HP:0001257	Spasticity	775	CACNA1C	OMIM:620029
HP:0001257	Spasticity	51412	ACTL6B	OMIM:618468
HP:0001257	Spasticity	4758	NEU1	ORPHA:93399
HP:0001257	Spasticity	1161	ERCC8	ORPHA:90321
HP:0001257	Spasticity	1161	ERCC8	ORPHA:90322
HP:0001257	Spasticity	2072	ERCC4	ORPHA:90321
HP:0001257	Spasticity	2074	ERCC6	ORPHA:90321
HP:0001257	Spasticity	2074	ERCC6	ORPHA:90322
HP:0001257	Spasticity	2067	ERCC1	ORPHA:90322
HP:0001257	Spasticity	81790	RNF170	OMIM:619686
HP:0001257	Spasticity	10908	PNPLA6	ORPHA:139480
HP:0001257	Spasticity	5917	RARS1	ORPHA:438114
HP:0001257	Spasticity	5917	RARS1	OMIM:616140
HP:0001257	Spasticity	27102	EIF2AK1	OMIM:618878
HP:0001257	Spasticity	3897	L1CAM	OMIM:303350
HP:0001257	Spasticity	84340	GFM2	ORPHA:565624
HP:0001257	Spasticity	7345	UCHL1	OMIM:615491
HP:0001257	Spasticity	7345	UCHL1	OMIM:620221
HP:0001257	Spasticity	816	CAMK2B	OMIM:617799
HP:0001257	Spasticity	51741	WWOX	OMIM:614322
HP:0001257	Spasticity	10342	TFG	OMIM:615658
HP:0001257	Spasticity	51079	NDUFA13	OMIM:618249
HP:0001257	Spasticity	85465	SELENOI	OMIM:618768
HP:0001257	Spasticity	4361	MRE11	OMIM:604391
HP:0001257	Spasticity	823	CAPN1	OMIM:616907
HP:0001257	Spasticity	823	CAPN1	ORPHA:488594
HP:0001257	Spasticity	57531	HACE1	ORPHA:464282
HP:0001257	Spasticity	57531	HACE1	OMIM:616756
HP:0001257	Spasticity	5277	PIGA	OMIM:300868
HP:0001257	Spasticity	6304	SATB1	OMIM:619229
HP:0001257	Spasticity	27010	TPK1	OMIM:614458
HP:0001257	Spasticity	6513	SLC2A1	ORPHA:98811
HP:0001257	Spasticity	112476	PRRT2	ORPHA:98811
HP:0001257	Spasticity	220296	HEPACAM	OMIM:613925
HP:0001257	Spasticity	4953	ODC1	OMIM:619075
HP:0001257	Spasticity	91574	MTRFR	OMIM:615035
HP:0001257	Spasticity	91574	MTRFR	ORPHA:320375
HP:0001257	Spasticity	51501	HIKESHI	OMIM:616881
HP:0001257	Spasticity	1213	CLTC	OMIM:617854
HP:0001257	Spasticity	9354	UBE4A	OMIM:619639
HP:0001257	Spasticity	26047	CNTNAP2	ORPHA:163681
HP:0001257	Spasticity	79759	ZNF668	OMIM:620194
HP:0001257	Spasticity	79796	ALG9	ORPHA:79328
HP:0001257	Spasticity	25814	ATXN10	ORPHA:98761
HP:0001257	Spasticity	57459	GATAD2B	ORPHA:363686
HP:0001257	Spasticity	9409	PEX16	OMIM:614877
HP:0001257	Spasticity	57038	RARS2	OMIM:611523
HP:0001257	Spasticity	9338	TCEAL1	OMIM:301094
HP:0001257	Spasticity	2593	GAMT	OMIM:612736
HP:0001257	Spasticity	10667	FARS2	ORPHA:466722
HP:0001257	Spasticity	23299	BICD2	OMIM:615290
HP:0001257	Spasticity	6904	TBCD	OMIM:617193
HP:0001257	Spasticity	4141	MARS1	ORPHA:401835
HP:0001257	Spasticity	339855	KY	ORPHA:496689
HP:0001257	Spasticity	10273	STUB1	ORPHA:412057
HP:0001257	Spasticity	131118	DNAJC19	ORPHA:66634
HP:0001257	Spasticity	200403	VWA3B	OMIM:616948
HP:0001257	Spasticity	85021	REPS1	OMIM:617916
HP:0001257	Spasticity	27072	VPS41	OMIM:619389
HP:0001257	Spasticity	84274	COQ5	OMIM:619028
HP:0001257	Spasticity	25793	FBXO7	OMIM:260300
HP:0001257	Spasticity	51763	INPP5K	OMIM:617404
HP:0001257	Spasticity	51062	ATL1	ORPHA:100984
HP:0001257	Spasticity	51062	ATL1	OMIM:182600
HP:0001257	Spasticity	3736	KCNA1	OMIM:160120
HP:0001257	Spasticity	3736	KCNA1	ORPHA:972
HP:0001257	Spasticity	9897	WASHC5	ORPHA:100989
HP:0001257	Spasticity	9897	WASHC5	OMIM:603563
HP:0001257	Spasticity	324	APC	ORPHA:261584
HP:0001257	Spasticity	79876	UBA5	OMIM:617133
HP:0001257	Spasticity	123606	NIPA1	OMIM:600363
HP:0001257	Spasticity	57156	TMEM63C	OMIM:619966
HP:0001257	Spasticity	547	KIF1A	OMIM:610357
HP:0001257	Spasticity	547	KIF1A	ORPHA:101010
HP:0001257	Spasticity	9197	SLC33A1	OMIM:612539
HP:0001257	Spasticity	9197	SLC33A1	ORPHA:171863
HP:0001257	Spasticity	118813	ZFYVE27	OMIM:610244
HP:0001257	Spasticity	25778	DSTYK	ORPHA:101003
HP:0001257	Spasticity	9420	CYP7B1	OMIM:270800
HP:0001257	Spasticity	57599	WDR48	ORPHA:401800
HP:0001257	Spasticity	55703	POLR3B	OMIM:619742
HP:0001257	Spasticity	80821	DDHD1	ORPHA:101008
HP:0001257	Spasticity	9907	AP5Z1	OMIM:613647
HP:0001257	Spasticity	9907	AP5Z1	ORPHA:306511
HP:0001257	Spasticity	9895	TECPR2	OMIM:615031
HP:0001257	Spasticity	340075	ARSI	ORPHA:401815
HP:0001257	Spasticity	57498	KIDINS220	OMIM:617296
HP:0001257	Spasticity	80232	WDR26	OMIM:617616
HP:0001257	Spasticity	10613	ERLIN1	ORPHA:401785
HP:0001257	Spasticity	10613	ERLIN1	OMIM:615681
HP:0001257	Spasticity	23503	ZFYVE26	OMIM:270700
HP:0001257	Spasticity	55210	ATAD3A	ORPHA:496790
HP:0001257	Spasticity	80055	PGAP1	ORPHA:401820
HP:0001257	Spasticity	22978	NT5C2	ORPHA:320396
HP:0001257	Spasticity	22978	NT5C2	OMIM:613162
HP:0001257	Spasticity	6253	RTN2	OMIM:604805
HP:0001257	Spasticity	6253	RTN2	ORPHA:100993
HP:0001257	Spasticity	79971	WLS	OMIM:619648
HP:0001257	Spasticity	26278	SACS	OMIM:270550
HP:0001257	Spasticity	9101	USP8	ORPHA:401795
HP:0001257	Spasticity	8913	CACNA1G	ORPHA:458803
HP:0001257	Spasticity	8913	CACNA1G	OMIM:616795
HP:0001257	Spasticity	3739	KCNA4	OMIM:618284
HP:0001257	Spasticity	3329	HSPD1	OMIM:605280
HP:0001257	Spasticity	3329	HSPD1	ORPHA:100994
HP:0001257	Spasticity	383	ARG1	OMIM:207800
HP:0001257	Spasticity	7415	VCP	ORPHA:329475
HP:0001257	Spasticity	23259	DDHD2	ORPHA:320380
HP:0001257	Spasticity	6683	SPAST	OMIM:182601
HP:0001257	Spasticity	26580	BSCL2	OMIM:270685
HP:0001257	Spasticity	26580	BSCL2	ORPHA:100998
HP:0001257	Spasticity	51663	ZFR	ORPHA:401840
HP:0001257	Spasticity	51271	UBAP1	ORPHA:100993
HP:0001257	Spasticity	126129	CPT1C	ORPHA:444099
HP:0001257	Spasticity	3839	KPNA3	ORPHA:171612
HP:0001257	Spasticity	51308	REEP2	ORPHA:401849
HP:0001257	Spasticity	51308	REEP2	OMIM:615625
HP:0001257	Spasticity	113612	CYP2U1	ORPHA:320411
HP:0001257	Spasticity	22948	CCT5	OMIM:256840
HP:0001257	Spasticity	2583	B4GALNT1	OMIM:609195
HP:0001257	Spasticity	57165	GJC2	OMIM:613206
HP:0001257	Spasticity	2137	EXTL3	ORPHA:508533
HP:0001257	Spasticity	4702	NDUFA8	OMIM:619272
HP:0001257	Spasticity	158	ADSL	OMIM:103050
HP:0001257	Spasticity	443	ASPA	OMIM:271900
HP:0001257	Spasticity	3763	KCNJ6	ORPHA:435628
HP:0001257	Spasticity	3763	KCNJ6	OMIM:614098
HP:0001257	Spasticity	1727	CYB5R3	OMIM:250800
HP:0001257	Spasticity	23516	SLC39A14	OMIM:617013
HP:0001257	Spasticity	3747	KCNC2	OMIM:619913
HP:0001257	Spasticity	4337	MOCS1	OMIM:252150
HP:0001257	Spasticity	54820	NDE1	ORPHA:2177
HP:0001257	Spasticity	80704	SLC19A3	OMIM:607483
HP:0001257	Spasticity	2629	GBA1	OMIM:608013
HP:0001257	Spasticity	81570	CLPB	ORPHA:445038
HP:0001257	Spasticity	81570	CLPB	OMIM:616271
HP:0001257	Spasticity	3251	HPRT1	OMIM:300322
HP:0001257	Spasticity	2521	FUS	ORPHA:300605
HP:0001257	Spasticity	80208	SPG11	ORPHA:300605
HP:0001257	Spasticity	10280	SIGMAR1	ORPHA:300605
HP:0001257	Spasticity	10558	SPTLC1	ORPHA:300605
HP:0001257	Spasticity	57679	ALS2	ORPHA:300605
HP:0001257	Spasticity	57679	ALS2	OMIM:205100
HP:0001257	Spasticity	55610	VPS50	OMIM:619685
HP:0001257	Spasticity	440138	ALG11	ORPHA:280071
HP:0001257	Spasticity	440138	ALG11	OMIM:613661
HP:0001257	Spasticity	51506	UFC1	OMIM:618076
HP:0001257	Spasticity	7358	UGDH	OMIM:618792
HP:0001257	Spasticity	1841	DTYMK	OMIM:619847
HP:0001257	Spasticity	10157	AASS	ORPHA:2203
HP:0001257	Spasticity	4976	OPA1	OMIM:616896
HP:0001257	Spasticity	7284	TUFM	OMIM:610678
HP:0001257	Spasticity	1759	DNM1	OMIM:620352
HP:0001257	Spasticity	7143	TNR	OMIM:619653
HP:0001257	Spasticity	5455	POU3F3	OMIM:618604
HP:0001257	Spasticity	2902	GRIN1	OMIM:619814
HP:0001257	Spasticity	55275	VPS53	OMIM:615851
HP:0001257	Spasticity	80746	TSEN2	OMIM:612389
HP:0001257	Spasticity	283989	TSEN54	OMIM:277470
HP:0001257	Spasticity	114034	TOE1	OMIM:614969
HP:0001257	Spasticity	2581	GALC	ORPHA:206436
HP:0001257	Spasticity	5660	PSAP	ORPHA:206436
HP:0001257	Spasticity	64087	MCCC2	OMIM:210210
HP:0001257	Spasticity	5048	PAFAH1B1	ORPHA:95232
HP:0001257	Spasticity	2639	GCDH	OMIM:231670
HP:0001257	Spasticity	5805	PTS	ORPHA:13
HP:0001257	Spasticity	2898	GRIK2	OMIM:619580
HP:0001257	Spasticity	27247	NFU1	OMIM:605711
HP:0001257	Spasticity	80025	PANK2	ORPHA:216866
HP:0001257	Spasticity	132158	GLYCTK	OMIM:220120
HP:0001257	Spasticity	79587	CARS2	OMIM:616672
HP:0001257	Spasticity	80199	FUZ	ORPHA:1136
HP:0001257	Spasticity	4338	MOCS2	OMIM:252160
HP:0001257	Spasticity	56922	MCCC1	OMIM:210200
HP:0001257	Spasticity	9244	CRLF1	OMIM:272430
HP:0001257	Spasticity	26040	SETBP1	OMIM:269150
HP:0001257	Spasticity	6197	RPS6KA3	ORPHA:192
HP:0001257	Spasticity	129685	TAF8	OMIM:619972
HP:0001257	Spasticity	84504	NKX6-2	ORPHA:527497
HP:0001257	Spasticity	55157	DARS2	ORPHA:137898
HP:0001257	Spasticity	5428	POLG	ORPHA:726
HP:0001257	Spasticity	10943	MSL3	OMIM:301032
HP:0001257	Spasticity	57688	ZSWIM6	OMIM:617865
HP:0001257	Spasticity	84265	POLR3GL	OMIM:619234
HP:0001257	Spasticity	55532	SLC30A10	ORPHA:309854
HP:0001257	Spasticity	55532	SLC30A10	OMIM:613280
HP:0001257	Spasticity	54902	TTC19	OMIM:615157
HP:0001257	Spasticity	3425	IDUA	ORPHA:93474
HP:0001257	Spasticity	3425	IDUA	ORPHA:93473
HP:0001257	Spasticity	440193	CCDC88C	OMIM:616053
HP:0001257	Spasticity	440193	CCDC88C	ORPHA:423275
HP:0001257	Spasticity	1910	EDNRB	OMIM:277580
HP:0001257	Spasticity	11152	WDR45	ORPHA:329284
HP:0001257	Spasticity	11152	WDR45	OMIM:300894
HP:0001257	Spasticity	93587	TRMT10A	ORPHA:391408
HP:0001257	Spasticity	55149	MTPAP	OMIM:613672
HP:0001257	Spasticity	55149	MTPAP	ORPHA:254343
HP:0001257	Spasticity	686	BTD	ORPHA:79241
HP:0001257	Spasticity	23389	MED13L	ORPHA:369891
HP:0001257	Spasticity	5621	PRNP	ORPHA:282166
HP:0001257	Spasticity	10717	AP4B1	ORPHA:280763
HP:0001257	Spasticity	11154	AP4S1	ORPHA:280763
HP:0001257	Spasticity	87178	PNPT1	ORPHA:101111
HP:0001257	Spasticity	4099	MAG	OMIM:616680
HP:0001257	Spasticity	4137	MAPT	ORPHA:240094
HP:0001257	Spasticity	57704	GBA2	ORPHA:352641
HP:0001257	Spasticity	57704	GBA2	ORPHA:320391
HP:0001257	Spasticity	55775	TDP1	ORPHA:94124
HP:0001257	Spasticity	5190	PEX6	ORPHA:95433
HP:0001257	Spasticity	92935	MARS2	ORPHA:314603
HP:0001257	Spasticity	5832	ALDH18A1	ORPHA:447757
HP:0001257	Spasticity	5832	ALDH18A1	ORPHA:447753
HP:0001257	Spasticity	11160	ERLIN2	ORPHA:247604
HP:0001257	Spasticity	10939	AFG3L2	ORPHA:313772
HP:0001257	Spasticity	6843	VAMP1	ORPHA:251282
HP:0001257	Spasticity	84188	FAR1	ORPHA:447753
HP:0001257	Spasticity	11128	POLR3A	ORPHA:447896
HP:0001257	Spasticity	724066	ATXN8	ORPHA:98760
HP:0001257	Spasticity	6315	ATXN8OS	ORPHA:98760
HP:0001257	Spasticity	23111	SPART	ORPHA:101000
HP:0001257	Spasticity	6687	SPG7	ORPHA:35689
HP:0001257	Spasticity	2705	GJB1	ORPHA:1175
HP:0001257	Spasticity	492	ATP2B3	ORPHA:314978
HP:0001257	Spasticity	9373	PLAA	ORPHA:521426
HP:0001257	Spasticity	6329	SCN4A	ORPHA:99734
HP:0001257	Spasticity	23141	ANKLE2	OMIM:616681
HP:0001257	Spasticity	776	CACNA1D	OMIM:615474
HP:0001257	Spasticity	2720	GLB1	OMIM:230600
HP:0001257	Spasticity	84942	WDR73	OMIM:251300
HP:0001257	Spasticity	6328	SCN3A	OMIM:617938
HP:0001257	Spasticity	8496	PPFIBP1	OMIM:620024
HP:0001257	Spasticity	56945	MRPS22	OMIM:611719
HP:0001257	Spasticity	1193	CLIC2	OMIM:300886
HP:0001257	Spasticity	1193	CLIC2	ORPHA:324410
HP:0001257	Spasticity	6567	SLC16A2	OMIM:300523
HP:0001257	Spasticity	6567	SLC16A2	ORPHA:59
HP:0001257	Spasticity	1436	CSF1R	OMIM:618476
HP:0001257	Spasticity	170302	ARX	OMIM:300004
HP:0001257	Spasticity	8867	SYNJ1	OMIM:617389
HP:0001257	Spasticity	644096	SDHAF1	OMIM:619166
HP:0001257	Spasticity	80347	COASY	OMIM:615643
HP:0001257	Spasticity	29078	NDUFAF4	OMIM:618237
HP:0001257	Spasticity	79133	NDUFAF5	OMIM:618238
HP:0001257	Spasticity	23431	AP4E1	OMIM:613744
HP:0001257	Spasticity	7846	TUBA1A	OMIM:611603
HP:0001257	Spasticity	9179	AP4M1	OMIM:612936
HP:0001257	Spasticity	79709	COLGALT1	OMIM:618360
HP:0001257	Spasticity	4204	MECP2	OMIM:300055
HP:0001257	Spasticity	535	ATP6V0A1	OMIM:619971
HP:0001257	Spasticity	22796	COG2	OMIM:617395
HP:0001257	Spasticity	22796	COG2	ORPHA:435934
HP:0001257	Spasticity	100131801	PET100	OMIM:619055
HP:0001257	Spasticity	7283	TUBG1	OMIM:615412
HP:0001257	Spasticity	79029	AFG2B	OMIM:619616
HP:0001257	Spasticity	10352	WARS2	OMIM:617710
HP:0001257	Spasticity	10352	WARS2	ORPHA:572798
HP:0001257	Spasticity	6709	SPTAN1	OMIM:613477
HP:0001257	Spasticity	1778	DYNC1H1	OMIM:614563
HP:0001257	Spasticity	3796	KIF2A	OMIM:615411
HP:0001257	Spasticity	123263	MTFMT	OMIM:618248
HP:0001257	Spasticity	170825	GSX2	OMIM:618646
HP:0001257	Spasticity	8560	DEGS1	OMIM:618404
HP:0001257	Spasticity	259232	NALCN	OMIM:615419
HP:0001257	Spasticity	259232	NALCN	ORPHA:371364
HP:0001257	Spasticity	549	AUH	OMIM:250950
HP:0001257	Spasticity	23258	DENND5A	OMIM:617281
HP:0001257	Spasticity	5903	RANBP2	ORPHA:88619
HP:0001257	Spasticity	5903	RANBP2	OMIM:608033
HP:0001257	Spasticity	22872	SEC31A	OMIM:618651
HP:0001257	Spasticity	128637	TBC1D20	OMIM:615663
HP:0001257	Spasticity	6785	ELOVL4	OMIM:614457
HP:0001257	Spasticity	6905	TBCE	OMIM:617207
HP:0001257	Spasticity	26227	PHGDH	ORPHA:79351
HP:0001257	Spasticity	26227	PHGDH	OMIM:601815
HP:0001257	Spasticity	59336	PRDM13	OMIM:619909
HP:0001257	Spasticity	1267	CNP	OMIM:619071
HP:0001257	Spasticity	11019	LIAS	OMIM:614462
HP:0001257	Spasticity	56978	PRDM8	OMIM:616640
HP:0001257	Spasticity	6812	STXBP1	OMIM:612164
HP:0001257	Spasticity	51633	OTUD6B	OMIM:617452
HP:0001257	Spasticity	51633	OTUD6B	ORPHA:505237
HP:0001257	Spasticity	2517	FUCA1	OMIM:230000
HP:0001257	Spasticity	2517	FUCA1	ORPHA:349
HP:0001257	Spasticity	22931	RAB18	OMIM:614222
HP:0001257	Spasticity	51091	SEPSECS	OMIM:613811
HP:0001257	Spasticity	56270	WDR45B	OMIM:617977
HP:0001257	Spasticity	285175	UNC80	ORPHA:371364
HP:0001257	Spasticity	9289	ADGRG1	ORPHA:98889
HP:0001257	Spasticity	5297	PI4KA	ORPHA:98889
HP:0001257	Spasticity	27286	SRPX2	ORPHA:98889
HP:0001257	Spasticity	1528	CYB5A	ORPHA:621
HP:0001257	Spasticity	51611	DPH5	OMIM:620070
HP:0001257	Spasticity	5700	PSMC1	OMIM:620071
HP:0001257	Spasticity	90522	YIF1B	OMIM:619125
HP:0001257	Spasticity	3800	KIF5C	OMIM:615282
HP:0001257	Spasticity	6472	SHMT2	OMIM:619121
HP:0001257	Spasticity	2893	GRIA4	OMIM:617864
HP:0001257	Spasticity	23400	ATP13A2	OMIM:617225
HP:0001257	Spasticity	10297	APC2	OMIM:618677
HP:0001257	Spasticity	55164	SHQ1	OMIM:619922
HP:0001257	Spasticity	6509	SLC1A4	OMIM:616657
HP:0001257	Spasticity	9562	MINPP1	OMIM:619527
HP:0001257	Spasticity	6663	SOX10	OMIM:609136
HP:0001257	Spasticity	55739	NAXD	OMIM:618321
HP:0001257	Spasticity	440	ASNS	OMIM:615574
HP:0001257	Spasticity	777	CACNA1E	OMIM:618285
HP:0001257	Spasticity	200205	IBA57	OMIM:615330
HP:0001257	Spasticity	1284	COL4A2	OMIM:614483
HP:0001257	Spasticity	64919	BCL11B	OMIM:617237
HP:0001257	Spasticity	2806	GOT2	OMIM:618721
HP:0001257	Spasticity	51294	PCDH12	OMIM:251280
HP:0001257	Spasticity	23189	KANK1	OMIM:612900
HP:0001257	Spasticity	2055	CLN8	ORPHA:1947
HP:0001257	Spasticity	57192	MCOLN1	OMIM:252650
HP:0001257	Spasticity	28962	OSTM1	OMIM:259720
HP:0001257	Spasticity	3735	KARS1	OMIM:619147
HP:0001257	Spasticity	51645	PPIL1	OMIM:619301
HP:0001257	Spasticity	51362	CDC40	OMIM:619302
HP:0001257	Spasticity	51075	TMX2	OMIM:618730
HP:0001257	Spasticity	1496	CTNNA2	OMIM:618174
HP:0001257	Spasticity	8398	PLA2G6	OMIM:256600
HP:0001257	Spasticity	6326	SCN2A	OMIM:613721
HP:0001257	Spasticity	55770	EXOC2	OMIM:619306
HP:0001257	Spasticity	10695	CNPY3	OMIM:617929
HP:0001257	Spasticity	10535	RNASEH2A	ORPHA:51
HP:0001257	Spasticity	84153	RNASEH2C	ORPHA:51
HP:0001257	Spasticity	25939	SAMHD1	ORPHA:51
HP:0001257	Spasticity	79621	RNASEH2B	ORPHA:51
HP:0001257	Spasticity	103	ADAR	ORPHA:51
HP:0001257	Spasticity	11277	TREX1	ORPHA:51
HP:0001257	Spasticity	134353	LSM11	ORPHA:51
HP:0001257	Spasticity	64135	IFIH1	ORPHA:51
HP:0001257	Spasticity	410	ARSA	OMIM:250100
HP:0001257	Spasticity	91942	NDUFAF2	ORPHA:255241
HP:0001257	Spasticity	6834	SURF1	ORPHA:255241
HP:0001257	Spasticity	4723	NDUFV1	ORPHA:255241
HP:0001257	Spasticity	55572	FOXRED1	ORPHA:255241
HP:0001257	Spasticity	4729	NDUFV2	ORPHA:255241
HP:0001257	Spasticity	55967	NDUFA12	ORPHA:255241
HP:0001257	Spasticity	4720	NDUFS2	ORPHA:255241
HP:0001257	Spasticity	4724	NDUFS4	ORPHA:255241
HP:0001257	Spasticity	4728	NDUFS8	ORPHA:255241
HP:0001257	Spasticity	137682	NDUFAF6	ORPHA:255241
HP:0001257	Spasticity	4722	NDUFS3	ORPHA:255241
HP:0001257	Spasticity	5160	PDHA1	ORPHA:255241
HP:0001257	Spasticity	1892	ECHS1	ORPHA:255241
HP:0001257	Spasticity	374291	NDUFS7	ORPHA:255241
HP:0001257	Spasticity	4705	NDUFA10	ORPHA:255241
HP:0001257	Spasticity	4719	NDUFS1	ORPHA:255241
HP:0001257	Spasticity	4695	NDUFA2	ORPHA:255241
HP:0001257	Spasticity	4704	NDUFA9	ORPHA:255241
HP:0001257	Spasticity	23769	FLRT1	ORPHA:320406
HP:0001257	Spasticity	64837	KLC2	ORPHA:320406
HP:0001257	Spasticity	8242	KDM5C	OMIM:300534
HP:0001257	Spasticity	3155	HMGCL	ORPHA:20
HP:0001257	Spasticity	271	AMPD2	ORPHA:401805
HP:0001257	Spasticity	271	AMPD2	OMIM:615686
HP:0001257	Spasticity	10159	ATP6AP2	ORPHA:363654
HP:0001257	Spasticity	23204	ARL6IP1	OMIM:615685
HP:0001257	Spasticity	23204	ARL6IP1	ORPHA:401780
HP:0001257	Spasticity	3798	KIF5A	ORPHA:100991
HP:0001257	Spasticity	116150	NUS1	OMIM:617082
HP:0001257	Spasticity	197258	FCSK	OMIM:618324
HP:0001257	Spasticity	116461	TSEN15	OMIM:617026
HP:0001257	Spasticity	55331	ACER3	OMIM:617762
HP:0001257	Spasticity	1822	ATN1	OMIM:618494
HP:0001257	Spasticity	160418	TMTC3	OMIM:617255
HP:0001257	Spasticity	9255	AIMP1	OMIM:260600
HP:0001257	Spasticity	51112	TRAPPC12	OMIM:617669
HP:0001257	Spasticity	54676	GTPBP2	OMIM:617988
HP:0001257	Spasticity	819	CAMLG	OMIM:620201
HP:0001257	Spasticity	84081	NSRP1	OMIM:620001
HP:0001258	Spastic paraplegia	3912	LAMB1	OMIM:615191
HP:0001258	Spastic paraplegia	23111	SPART	OMIM:275900
HP:0001258	Spastic paraplegia	8504	PEX3	OMIM:617370
HP:0001258	Spastic paraplegia	79621	RNASEH2B	OMIM:610181
HP:0001258	Spastic paraplegia	9420	CYP7B1	ORPHA:100986
HP:0001258	Spastic paraplegia	9420	CYP7B1	OMIM:270800
HP:0001258	Spastic paraplegia	123606	NIPA1	ORPHA:100988
HP:0001258	Spastic paraplegia	123606	NIPA1	OMIM:600363
HP:0001258	Spastic paraplegia	80821	DDHD1	OMIM:609340
HP:0001258	Spastic paraplegia	4125	MAN2B1	ORPHA:309282
HP:0001258	Spastic paraplegia	9131	AIFM1	ORPHA:83629
HP:0001258	Spastic paraplegia	6567	SLC16A2	OMIM:300523
HP:0001258	Spastic paraplegia	81790	RNF170	OMIM:619686
HP:0001258	Spastic paraplegia	55182	RNF220	OMIM:619688
HP:0001258	Spastic paraplegia	518	ATP5MC3	OMIM:619681
HP:0001258	Spastic paraplegia	3897	L1CAM	ORPHA:306617
HP:0001258	Spastic paraplegia	3897	L1CAM	OMIM:303350
HP:0001258	Spastic paraplegia	3897	L1CAM	OMIM:307000
HP:0001258	Spastic paraplegia	3897	L1CAM	ORPHA:2466
HP:0001258	Spastic paraplegia	5077	PAX3	ORPHA:896
HP:0001258	Spastic paraplegia	5077	PAX3	OMIM:148820
HP:0001258	Spastic paraplegia	10166	SLC25A15	ORPHA:415
HP:0001258	Spastic paraplegia	10166	SLC25A15	OMIM:238970
HP:0001258	Spastic paraplegia	25778	DSTYK	OMIM:270750
HP:0001258	Spastic paraplegia	25778	DSTYK	ORPHA:101003
HP:0001258	Spastic paraplegia	51324	SPG21	OMIM:248900
HP:0001258	Spastic paraplegia	10059	DNM1L	ORPHA:98673
HP:0001258	Spastic paraplegia	4976	OPA1	ORPHA:98673
HP:0001258	Spastic paraplegia	4976	OPA1	ORPHA:1215
HP:0001258	Spastic paraplegia	10342	TFG	ORPHA:431329
HP:0001258	Spastic paraplegia	10342	TFG	OMIM:615658
HP:0001258	Spastic paraplegia	4204	MECP2	OMIM:300055
HP:0001258	Spastic paraplegia	7345	UCHL1	OMIM:615491
HP:0001258	Spastic paraplegia	5832	ALDH18A1	OMIM:616586
HP:0001258	Spastic paraplegia	5832	ALDH18A1	OMIM:601162
HP:0001258	Spastic paraplegia	64834	ELOVL1	OMIM:618527
HP:0001258	Spastic paraplegia	118813	ZFYVE27	OMIM:610244
HP:0001258	Spastic paraplegia	7920	ABHD16A	OMIM:619735
HP:0001258	Spastic paraplegia	114034	TOE1	OMIM:614969
HP:0001258	Spastic paraplegia	6843	VAMP1	OMIM:108600
HP:0001258	Spastic paraplegia	6843	VAMP1	ORPHA:251282
HP:0001258	Spastic paraplegia	546	ATRX	ORPHA:847
HP:0001258	Spastic paraplegia	6513	SLC2A1	OMIM:601042
HP:0001258	Spastic paraplegia	6513	SLC2A1	ORPHA:168577
HP:0001258	Spastic paraplegia	6513	SLC2A1	ORPHA:53583
HP:0001258	Spastic paraplegia	823	CAPN1	OMIM:616907
HP:0001258	Spastic paraplegia	1130	LYST	ORPHA:167
HP:0001258	Spastic paraplegia	26154	ABCA12	OMIM:601277
HP:0001258	Spastic paraplegia	2632	GBE1	OMIM:263570
HP:0001258	Spastic paraplegia	6687	SPG7	OMIM:607259
HP:0001258	Spastic paraplegia	57599	WDR48	ORPHA:401800
HP:0001258	Spastic paraplegia	215	ABCD1	OMIM:300100
HP:0001258	Spastic paraplegia	5297	PI4KA	OMIM:619621
HP:0001258	Spastic paraplegia	776	CACNA1D	ORPHA:369929
HP:0001258	Spastic paraplegia	65055	REEP1	OMIM:610250
HP:0001258	Spastic paraplegia	11160	ERLIN2	OMIM:611225
HP:0001258	Spastic paraplegia	113612	CYP2U1	OMIM:615030
HP:0001258	Spastic paraplegia	113612	CYP2U1	ORPHA:320411
HP:0001258	Spastic paraplegia	9895	TECPR2	OMIM:615031
HP:0001258	Spastic paraplegia	91574	MTRFR	OMIM:615035
HP:0001258	Spastic paraplegia	6812	STXBP1	OMIM:612164
HP:0001258	Spastic paraplegia	23259	DDHD2	OMIM:615033
HP:0001258	Spastic paraplegia	23259	DDHD2	ORPHA:320380
HP:0001258	Spastic paraplegia	56270	WDR45B	OMIM:617977
HP:0001258	Spastic paraplegia	23503	ZFYVE26	OMIM:270700
HP:0001258	Spastic paraplegia	23503	ZFYVE26	ORPHA:100996
HP:0001258	Spastic paraplegia	8050	PDHX	OMIM:245349
HP:0001258	Spastic paraplegia	22978	NT5C2	ORPHA:320396
HP:0001258	Spastic paraplegia	22978	NT5C2	OMIM:613162
HP:0001258	Spastic paraplegia	23064	SETX	ORPHA:357043
HP:0001258	Spastic paraplegia	953	ENTPD1	OMIM:615683
HP:0001258	Spastic paraplegia	83636	C19orf12	OMIM:615043
HP:0001258	Spastic paraplegia	23204	ARL6IP1	OMIM:615685
HP:0001258	Spastic paraplegia	271	AMPD2	OMIM:615686
HP:0001258	Spastic paraplegia	80208	SPG11	OMIM:604360
HP:0001258	Spastic paraplegia	9101	USP8	ORPHA:401795
HP:0001258	Spastic paraplegia	2629	GBA1	ORPHA:2072
HP:0001258	Spastic paraplegia	4099	MAG	ORPHA:459056
HP:0001258	Spastic paraplegia	3329	HSPD1	OMIM:605280
HP:0001258	Spastic paraplegia	3329	HSPD1	ORPHA:100994
HP:0001258	Spastic paraplegia	3329	HSPD1	OMIM:612233
HP:0001258	Spastic paraplegia	57679	ALS2	ORPHA:293168
HP:0001258	Spastic paraplegia	57679	ALS2	OMIM:607225
HP:0001258	Spastic paraplegia	7415	VCP	ORPHA:329475
HP:0001258	Spastic paraplegia	6683	SPAST	OMIM:182601
HP:0001258	Spastic paraplegia	51062	ATL1	OMIM:182600
HP:0001258	Spastic paraplegia	57704	GBA2	OMIM:614409
HP:0001258	Spastic paraplegia	26580	BSCL2	OMIM:270685
HP:0001258	Spastic paraplegia	8139	GAN	OMIM:256850
HP:0001258	Spastic paraplegia	84842	HPDL	OMIM:619026
HP:0001258	Spastic paraplegia	84842	HPDL	OMIM:619027
HP:0001258	Spastic paraplegia	84706	GPT2	ORPHA:477673
HP:0001258	Spastic paraplegia	55656	INTS8	OMIM:618572
HP:0001258	Spastic paraplegia	2583	B4GALNT1	OMIM:609195
HP:0001258	Spastic paraplegia	51308	REEP2	OMIM:615625
HP:0001258	Spastic paraplegia	57165	GJC2	OMIM:613206
HP:0001258	Spastic paraplegia	137492	VPS37A	OMIM:614898
HP:0001258	Spastic paraplegia	3798	KIF5A	OMIM:604187
HP:0001258	Spastic paraplegia	25782	RAB3GAP2	ORPHA:401830
HP:0001258	Spastic paraplegia	6389	SDHA	ORPHA:255241
HP:0001258	Spastic paraplegia	80704	SLC19A3	ORPHA:255241
HP:0001258	Spastic paraplegia	91942	NDUFAF2	ORPHA:255241
HP:0001258	Spastic paraplegia	6834	SURF1	ORPHA:255241
HP:0001258	Spastic paraplegia	4723	NDUFV1	ORPHA:255241
HP:0001258	Spastic paraplegia	55572	FOXRED1	ORPHA:255241
HP:0001258	Spastic paraplegia	4729	NDUFV2	ORPHA:255241
HP:0001258	Spastic paraplegia	55967	NDUFA12	ORPHA:255241
HP:0001258	Spastic paraplegia	51204	TACO1	ORPHA:255241
HP:0001258	Spastic paraplegia	4720	NDUFS2	ORPHA:255241
HP:0001258	Spastic paraplegia	4724	NDUFS4	ORPHA:255241
HP:0001258	Spastic paraplegia	4728	NDUFS8	ORPHA:255241
HP:0001258	Spastic paraplegia	137682	NDUFAF6	ORPHA:255241
HP:0001258	Spastic paraplegia	4722	NDUFS3	ORPHA:255241
HP:0001258	Spastic paraplegia	79133	NDUFAF5	ORPHA:255241
HP:0001258	Spastic paraplegia	5160	PDHA1	ORPHA:255241
HP:0001258	Spastic paraplegia	100131801	PET100	ORPHA:255241
HP:0001258	Spastic paraplegia	1355	COX15	ORPHA:255241
HP:0001258	Spastic paraplegia	1892	ECHS1	ORPHA:255241
HP:0001258	Spastic paraplegia	123263	MTFMT	ORPHA:255241
HP:0001258	Spastic paraplegia	51079	NDUFA13	ORPHA:255241
HP:0001258	Spastic paraplegia	374291	NDUFS7	ORPHA:255241
HP:0001258	Spastic paraplegia	4705	NDUFA10	ORPHA:255241
HP:0001258	Spastic paraplegia	51601	LIPT1	ORPHA:255241
HP:0001258	Spastic paraplegia	4719	NDUFS1	ORPHA:255241
HP:0001258	Spastic paraplegia	4695	NDUFA2	ORPHA:255241
HP:0001258	Spastic paraplegia	4697	NDUFA4	ORPHA:255241
HP:0001258	Spastic paraplegia	4704	NDUFA9	ORPHA:255241
HP:0001258	Spastic paraplegia	85465	SELENOI	ORPHA:506353
HP:0001258	Spastic paraplegia	10717	AP4B1	ORPHA:280763
HP:0001258	Spastic paraplegia	9179	AP4M1	ORPHA:280763
HP:0001258	Spastic paraplegia	11154	AP4S1	ORPHA:280763
HP:0001258	Spastic paraplegia	23431	AP4E1	ORPHA:280763
HP:0001258	Spastic paraplegia	547	KIF1A	ORPHA:101010
HP:0001258	Spastic paraplegia	23769	FLRT1	ORPHA:320406
HP:0001258	Spastic paraplegia	64837	KLC2	ORPHA:320406
HP:0001258	Spastic paraplegia	9897	WASHC5	ORPHA:100989
HP:0001258	Spastic paraplegia	8242	KDM5C	OMIM:300534
HP:0001258	Spastic paraplegia	340075	ARSI	ORPHA:401815
HP:0001258	Spastic paraplegia	9197	SLC33A1	ORPHA:171863
HP:0001258	Spastic paraplegia	4141	MARS1	ORPHA:401835
HP:0001258	Spastic paraplegia	339855	KY	ORPHA:496689
HP:0001258	Spastic paraplegia	57498	KIDINS220	ORPHA:521390
HP:0001258	Spastic paraplegia	10908	PNPLA6	OMIM:612020
HP:0001258	Spastic paraplegia	22948	CCT5	ORPHA:139578
HP:0001258	Spastic paraplegia	4508	MT-ATP6	ORPHA:320360
HP:0001258	Spastic paraplegia	51663	ZFR	ORPHA:401840
HP:0001258	Spastic paraplegia	6253	RTN2	ORPHA:100993
HP:0001258	Spastic paraplegia	51271	UBAP1	ORPHA:100993
HP:0001258	Spastic paraplegia	126129	CPT1C	ORPHA:444099
HP:0001258	Spastic paraplegia	200205	IBA57	ORPHA:468661
HP:0001258	Spastic paraplegia	57531	HACE1	ORPHA:464282
HP:0001258	Spastic paraplegia	23400	ATP13A2	ORPHA:513436
HP:0001258	Spastic paraplegia	5354	PLP1	ORPHA:280234
HP:0001258	Spastic paraplegia	80055	PGAP1	ORPHA:401820
HP:0001258	Spastic paraplegia	3839	KPNA3	ORPHA:171612
HP:0001258	Spastic paraplegia	79152	FA2H	ORPHA:329308
HP:0001258	Spastic paraplegia	9907	AP5Z1	ORPHA:306511
HP:0001258	Spastic paraplegia	10667	FARS2	ORPHA:466722
HP:0001259	Coma	1374	CPT1A	ORPHA:156
HP:0001259	Coma	1374	CPT1A	OMIM:255120
HP:0001259	Coma	4594	MMUT	ORPHA:289916
HP:0001259	Coma	4594	MMUT	OMIM:251000
HP:0001259	Coma	4594	MMUT	ORPHA:79312
HP:0001259	Coma	3155	HMGCL	ORPHA:20
HP:0001259	Coma	3155	HMGCL	OMIM:246450
HP:0001259	Coma	229	ALDOB	OMIM:229600
HP:0001259	Coma	229	ALDOB	ORPHA:469
HP:0001259	Coma	51728	POLR3K	OMIM:619310
HP:0001259	Coma	5009	OTC	OMIM:311250
HP:0001259	Coma	5551	PRF1	ORPHA:540
HP:0001259	Coma	5551	PRF1	OMIM:603553
HP:0001259	Coma	8676	STX11	ORPHA:540
HP:0001259	Coma	201294	UNC13D	ORPHA:540
HP:0001259	Coma	6813	STXBP2	ORPHA:540
HP:0001259	Coma	4695	NDUFA2	OMIM:618235
HP:0001259	Coma	351	APP	ORPHA:324713
HP:0001259	Coma	351	APP	ORPHA:324703
HP:0001259	Coma	549	AUH	ORPHA:67046
HP:0001259	Coma	3141	HLCS	OMIM:253270
HP:0001259	Coma	3141	HLCS	ORPHA:79242
HP:0001259	Coma	6833	ABCC8	OMIM:240800
HP:0001259	Coma	6833	ABCC8	ORPHA:99885
HP:0001259	Coma	3767	KCNJ11	ORPHA:99885
HP:0001259	Coma	6774	STAT3	ORPHA:99885
HP:0001259	Coma	2645	GCK	ORPHA:99885
HP:0001259	Coma	2645	GCK	ORPHA:79299
HP:0001259	Coma	3651	PDX1	ORPHA:99885
HP:0001259	Coma	3630	INS	ORPHA:99885
HP:0001259	Coma	2710	GK	OMIM:307030
HP:0001259	Coma	10166	SLC25A15	ORPHA:415
HP:0001259	Coma	10166	SLC25A15	OMIM:238970
HP:0001259	Coma	10165	SLC25A13	OMIM:603471
HP:0001259	Coma	10165	SLC25A13	ORPHA:247585
HP:0001259	Coma	34	ACADM	OMIM:201450
HP:0001259	Coma	34	ACADM	ORPHA:42
HP:0001259	Coma	64087	MCCC2	OMIM:210210
HP:0001259	Coma	5428	POLG	ORPHA:726
HP:0001259	Coma	773	CACNA1A	ORPHA:569
HP:0001259	Coma	773	CACNA1A	OMIM:141500
HP:0001259	Coma	112476	PRRT2	ORPHA:569
HP:0001259	Coma	6323	SCN1A	ORPHA:569
HP:0001259	Coma	477	ATP1A2	ORPHA:569
HP:0001259	Coma	477	ATP1A2	OMIM:602481
HP:0001259	Coma	5095	PCCA	OMIM:606054
HP:0001259	Coma	5096	PCCB	OMIM:606054
HP:0001259	Coma	9056	SLC7A7	OMIM:222700
HP:0001259	Coma	9056	SLC7A7	ORPHA:470
HP:0001259	Coma	3712	IVD	OMIM:243500
HP:0001259	Coma	3643	INSR	ORPHA:263458
HP:0001259	Coma	3172	HNF4A	ORPHA:263455
HP:0001259	Coma	5903	RANBP2	ORPHA:88619
HP:0001259	Coma	5903	RANBP2	OMIM:608033
HP:0001259	Coma	58472	SQOR	OMIM:619221
HP:0001259	Coma	1376	CPT2	OMIM:614212
HP:0001259	Coma	1376	CPT2	ORPHA:228308
HP:0001259	Coma	56922	MCCC1	OMIM:210200
HP:0001259	Coma	5498	PPOX	ORPHA:79473
HP:0001259	Coma	326625	MMAB	OMIM:251110
HP:0001259	Coma	788	SLC25A20	ORPHA:159
HP:0001259	Coma	788	SLC25A20	OMIM:212138
HP:0001259	Coma	1499	CTNNB1	ORPHA:54595
HP:0001259	Coma	673	BRAF	ORPHA:54595
HP:0001259	Coma	4158	MC2R	OMIM:202200
HP:0001259	Coma	1629	DBT	OMIM:248600
HP:0001259	Coma	593	BCKDHA	OMIM:248600
HP:0001259	Coma	594	BCKDHB	OMIM:248600
HP:0001259	Coma	10068	IL18BP	OMIM:618549
HP:0001259	Coma	54902	TTC19	OMIM:615157
HP:0001259	Coma	435	ASL	OMIM:207900
HP:0001259	Coma	90624	LYRM7	OMIM:615838
HP:0001259	Coma	3032	HADHB	ORPHA:746
HP:0001259	Coma	3030	HADHA	ORPHA:746
HP:0001259	Coma	4221	MEN1	ORPHA:97279
HP:0001259	Coma	4221	MEN1	ORPHA:652
HP:0001259	Coma	7528	YY1	ORPHA:97279
HP:0001259	Coma	80704	SLC19A3	OMIM:607483
HP:0001259	Coma	2203	FBP1	ORPHA:348
HP:0001259	Coma	2203	FBP1	OMIM:229700
HP:0001259	Coma	166785	MMAA	OMIM:251100
HP:0001259	Coma	162417	NAGS	OMIM:237310
HP:0001259	Coma	162417	NAGS	ORPHA:927
HP:0001259	Coma	128240	NAXE	OMIM:617186
HP:0001259	Coma	540	ATP7B	OMIM:277900
HP:0001259	Coma	6663	SOX10	OMIM:609136
HP:0001259	Coma	38	ACAT1	ORPHA:134
HP:0001259	Coma	1027	CDKN1B	ORPHA:652
HP:0001259	Coma	1026	CDKN1A	ORPHA:652
HP:0001259	Coma	1030	CDKN2B	ORPHA:652
HP:0001259	Coma	1031	CDKN2C	ORPHA:652
HP:0001259	Coma	1537	CYC1	OMIM:615453
HP:0001259	Coma	4724	NDUFS4	OMIM:252010
HP:0001259	Coma	445	ASS1	OMIM:215700
HP:0001259	Coma	1373	CPS1	OMIM:237300
HP:0001259	Coma	8942	KYNU	ORPHA:79155
HP:0001259	Coma	3145	HMBS	ORPHA:79276
HP:0001259	Coma	3075	CFH	OMIM:235400
HP:0001259	Coma	3078	CFHR1	OMIM:235400
HP:0001259	Coma	10878	CFHR3	OMIM:235400
HP:0001259	Coma	7187	TRAF3	ORPHA:1930
HP:0001259	Coma	81622	UNC93B1	ORPHA:1930
HP:0001259	Coma	148022	TICAM1	ORPHA:1930
HP:0001259	Coma	7098	TLR3	ORPHA:1930
HP:0001259	Coma	29110	TBK1	ORPHA:1930
HP:0001259	Coma	6584	SLC22A5	OMIM:212140
HP:0001259	Coma	3158	HMGCS2	OMIM:605911
HP:0001259	Coma	56246	MRAP	ORPHA:361
HP:0001259	Coma	6770	STAR	ORPHA:361
HP:0001259	Coma	23530	NNT	ORPHA:361
HP:0001259	Coma	23530	NNT	OMIM:614736
HP:0001259	Coma	10587	TXNRD2	ORPHA:361
HP:0001259	Coma	4791	NFKB2	ORPHA:293978
HP:0001259	Coma	6927	HNF1A	ORPHA:324575
HP:0001259	Coma	7351	UCP2	ORPHA:276556
HP:0001259	Coma	208	AKT2	ORPHA:293964
HP:0001259	Coma	3033	HADH	OMIM:609975
HP:0001259	Coma	2746	GLUD1	OMIM:606762
HP:0001259	Coma	2108	ETFA	OMIM:231680
HP:0001259	Coma	2109	ETFB	OMIM:231680
HP:0001259	Coma	2110	ETFDH	OMIM:231680
HP:0011471	Gastrostomy tube feeding in infancy	7528	YY1	ORPHA:506358
HP:0011471	Gastrostomy tube feeding in infancy	10059	DNM1L	ORPHA:330050
HP:0011471	Gastrostomy tube feeding in infancy	23394	ADNP	ORPHA:404448
HP:0011471	Gastrostomy tube feeding in infancy	91574	MTRFR	ORPHA:254930
HP:0011471	Gastrostomy tube feeding in infancy	10466	COG5	ORPHA:263487
HP:0011471	Gastrostomy tube feeding in infancy	26005	C2CD3	ORPHA:434179
HP:0011471	Gastrostomy tube feeding in infancy	1861	TOR1A	OMIM:618947
HP:0011471	Gastrostomy tube feeding in infancy	1280	COL2A1	ORPHA:93316
HP:0011471	Gastrostomy tube feeding in infancy	673	BRAF	OMIM:115150
HP:0011471	Gastrostomy tube feeding in infancy	4897	NRCAM	OMIM:619833
HP:0011471	Gastrostomy tube feeding in infancy	6323	SCN1A	OMIM:619317
HP:0011471	Gastrostomy tube feeding in infancy	6328	SCN3A	OMIM:617938
HP:0011471	Gastrostomy tube feeding in infancy	23345	SYNE1	ORPHA:319332
HP:0011471	Gastrostomy tube feeding in infancy	8405	SPOP	OMIM:618828
HP:0011471	Gastrostomy tube feeding in infancy	10128	LRPPRC	ORPHA:70472
HP:0011471	Gastrostomy tube feeding in infancy	7343	UBTF	ORPHA:500180
HP:0011471	Gastrostomy tube feeding in infancy	128869	PIGU	OMIM:618590
HP:0011471	Gastrostomy tube feeding in infancy	27125	AFF4	ORPHA:444077
HP:0011471	Gastrostomy tube feeding in infancy	4247	MGAT2	ORPHA:79329
HP:0011471	Gastrostomy tube feeding in infancy	283446	MYO1H	OMIM:619482
HP:0011471	Gastrostomy tube feeding in infancy	5631	PRPS1	ORPHA:423479
HP:0011471	Gastrostomy tube feeding in infancy	2521	FUS	ORPHA:300605
HP:0011471	Gastrostomy tube feeding in infancy	80208	SPG11	ORPHA:300605
HP:0011471	Gastrostomy tube feeding in infancy	10280	SIGMAR1	ORPHA:300605
HP:0011471	Gastrostomy tube feeding in infancy	10558	SPTLC1	ORPHA:300605
HP:0011471	Gastrostomy tube feeding in infancy	57679	ALS2	ORPHA:300605
HP:0011471	Gastrostomy tube feeding in infancy	80232	WDR26	ORPHA:513456
HP:0011471	Gastrostomy tube feeding in infancy	51112	TRAPPC12	ORPHA:500144
HP:0011471	Gastrostomy tube feeding in infancy	2222	FDFT1	OMIM:618156
HP:0011471	Gastrostomy tube feeding in infancy	253959	RALGAPA1	OMIM:618797
HP:0011471	Gastrostomy tube feeding in infancy	7204	TRIO	ORPHA:476126
HP:0011471	Gastrostomy tube feeding in infancy	83737	ITCH	OMIM:613385
HP:0011471	Gastrostomy tube feeding in infancy	83737	ITCH	ORPHA:228426
HP:0011471	Gastrostomy tube feeding in infancy	1294	COL7A1	ORPHA:89842
HP:0011471	Gastrostomy tube feeding in infancy	7358	UGDH	OMIM:618792
HP:0011471	Gastrostomy tube feeding in infancy	28514	DLL1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	28514	DLL1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	28514	DLL1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	28514	DLL1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	28514	DLL1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	2253	FGF8	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	2253	FGF8	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	2253	FGF8	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	2253	FGF8	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	2253	FGF8	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	6496	SIX3	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	6496	SIX3	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	6496	SIX3	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	6496	SIX3	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	6496	SIX3	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	7050	TGIF1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	7050	TGIF1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	7050	TGIF1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	7050	TGIF1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	7050	TGIF1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	4838	NODAL	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	4838	NODAL	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	4838	NODAL	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	4838	NODAL	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	4838	NODAL	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	6469	SHH	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	6469	SHH	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	6469	SHH	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	6469	SHH	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	6469	SHH	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	7546	ZIC2	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	7546	ZIC2	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	7546	ZIC2	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	7546	ZIC2	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	7546	ZIC2	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	6491	STIL	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	6491	STIL	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	6491	STIL	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	6491	STIL	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	6491	STIL	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	2619	GAS1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	2619	GAS1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	2619	GAS1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	2619	GAS1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	2619	GAS1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	84976	DISP1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	84976	DISP1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	84976	DISP1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	84976	DISP1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	84976	DISP1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	2736	GLI2	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	2736	GLI2	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	2736	GLI2	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	2736	GLI2	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	2736	GLI2	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	8928	FOXH1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	8928	FOXH1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	8928	FOXH1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	8928	FOXH1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	8928	FOXH1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	5727	PTCH1	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	5727	PTCH1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	5727	PTCH1	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	5727	PTCH1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	5727	PTCH1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	50937	CDON	ORPHA:280195
HP:0011471	Gastrostomy tube feeding in infancy	50937	CDON	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	50937	CDON	ORPHA:93926
HP:0011471	Gastrostomy tube feeding in infancy	50937	CDON	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	50937	CDON	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	283989	TSEN54	ORPHA:2524
HP:0011471	Gastrostomy tube feeding in infancy	116461	TSEN15	ORPHA:2524
HP:0011471	Gastrostomy tube feeding in infancy	79042	TSEN34	ORPHA:2524
HP:0011471	Gastrostomy tube feeding in infancy	80746	TSEN2	ORPHA:2524
HP:0011471	Gastrostomy tube feeding in infancy	51091	SEPSECS	ORPHA:2524
HP:0011471	Gastrostomy tube feeding in infancy	80055	PGAP1	OMIM:615802
HP:0011471	Gastrostomy tube feeding in infancy	55152	DALRD3	OMIM:618910
HP:0011471	Gastrostomy tube feeding in infancy	79633	FAT4	ORPHA:314679
HP:0011471	Gastrostomy tube feeding in infancy	8642	DCHS1	ORPHA:314679
HP:0011471	Gastrostomy tube feeding in infancy	388015	RTL1	ORPHA:96334
HP:0011471	Gastrostomy tube feeding in infancy	8788	DLK1	ORPHA:96334
HP:0011471	Gastrostomy tube feeding in infancy	55384	MEG3	ORPHA:96334
HP:0011471	Gastrostomy tube feeding in infancy	9338	TCEAL1	OMIM:301094
HP:0011471	Gastrostomy tube feeding in infancy	443	ASPA	ORPHA:314911
HP:0011471	Gastrostomy tube feeding in infancy	87178	PNPT1	ORPHA:319514
HP:0011471	Gastrostomy tube feeding in infancy	79158	GNPTAB	ORPHA:576
HP:0011471	Gastrostomy tube feeding in infancy	1185	CLCN6	OMIM:619173
HP:0011471	Gastrostomy tube feeding in infancy	84992	PIGY	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	84720	PIGO	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	93210	PGAP3	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	284098	PIGW	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	27315	PGAP2	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	55650	PIGV	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	9487	PIGL	ORPHA:247262
HP:0011471	Gastrostomy tube feeding in infancy	57107	PDSS2	ORPHA:255249
HP:0011471	Gastrostomy tube feeding in infancy	27235	COQ2	ORPHA:255249
HP:0011471	Gastrostomy tube feeding in infancy	6651	SON	ORPHA:500150
HP:0011471	Gastrostomy tube feeding in infancy	2260	FGFR1	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	2260	FGFR1	ORPHA:93924
HP:0011471	Gastrostomy tube feeding in infancy	10735	STAG2	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	10735	STAG2	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	8243	SMC1A	ORPHA:220386
HP:0011471	Gastrostomy tube feeding in infancy	93627	TBCK	OMIM:616900
HP:0011471	Gastrostomy tube feeding in infancy	8560	DEGS1	OMIM:618404
HP:0011471	Gastrostomy tube feeding in infancy	819	CAMLG	OMIM:620201
HP:0011471	Gastrostomy tube feeding in infancy	2055	CLN8	ORPHA:1947
HP:0011471	Gastrostomy tube feeding in infancy	9361	LONP1	ORPHA:79243
HP:0011471	Gastrostomy tube feeding in infancy	5160	PDHA1	ORPHA:79243
HP:0011471	Gastrostomy tube feeding in infancy	57731	SPTBN4	OMIM:617519
HP:0011471	Gastrostomy tube feeding in infancy	8813	DPM1	ORPHA:79322
HP:0011471	Gastrostomy tube feeding in infancy	6509	SLC1A4	ORPHA:447997
HP:0011471	Gastrostomy tube feeding in infancy	79087	ALG12	ORPHA:79324
HP:0011471	Gastrostomy tube feeding in infancy	641	BLM	ORPHA:125
HP:0011471	Gastrostomy tube feeding in infancy	29968	PSAT1	ORPHA:284417
HP:0011471	Gastrostomy tube feeding in infancy	8884	SLC5A6	OMIM:618973
HP:0011471	Gastrostomy tube feeding in infancy	25930	PTPN23	OMIM:618890
HP:0011471	Gastrostomy tube feeding in infancy	131377	KLHL40	OMIM:615348
HP:0011471	Gastrostomy tube feeding in infancy	23007	PLCH1	ORPHA:93925
HP:0011471	Gastrostomy tube feeding in infancy	5518	PPP2R1A	ORPHA:457284
HP:0011471	Gastrostomy tube feeding in infancy	11342	RNF13	ORPHA:544503
HP:0011471	Gastrostomy tube feeding in infancy	3852	KRT5	ORPHA:79396
HP:0011471	Gastrostomy tube feeding in infancy	3861	KRT14	ORPHA:79396
HP:0011471	Gastrostomy tube feeding in infancy	9325	TRIP4	ORPHA:486815
HP:0011471	Gastrostomy tube feeding in infancy	26040	SETBP1	ORPHA:798
HP:0011470	Nasogastric tube feeding in infancy	8626	TP63	OMIM:106260
HP:0011470	Nasogastric tube feeding in infancy	80267	EDEM3	OMIM:619493
HP:0011470	Nasogastric tube feeding in infancy	84340	GFM2	ORPHA:565624
HP:0011470	Nasogastric tube feeding in infancy	1351	COX8A	OMIM:619059
HP:0011470	Nasogastric tube feeding in infancy	10664	CTCF	ORPHA:363611
HP:0011470	Nasogastric tube feeding in infancy	284058	KANSL1	ORPHA:363958
HP:0011470	Nasogastric tube feeding in infancy	284058	KANSL1	ORPHA:363965
HP:0011470	Nasogastric tube feeding in infancy	1859	DYRK1A	ORPHA:268261
HP:0011470	Nasogastric tube feeding in infancy	10846	PDE10A	ORPHA:494526
HP:0011470	Nasogastric tube feeding in infancy	8218	CLTCL1	ORPHA:453510
HP:0011470	Nasogastric tube feeding in infancy	51604	PIGT	ORPHA:369837
HP:0011470	Nasogastric tube feeding in infancy	1387	CREBBP	ORPHA:353277
HP:0011470	Nasogastric tube feeding in infancy	1280	COL2A1	ORPHA:93316
HP:0011470	Nasogastric tube feeding in infancy	23314	SATB2	ORPHA:251028
HP:0011470	Nasogastric tube feeding in infancy	2917	GRM7	OMIM:618922
HP:0011470	Nasogastric tube feeding in infancy	259232	NALCN	ORPHA:371364
HP:0011470	Nasogastric tube feeding in infancy	285175	UNC80	ORPHA:371364
HP:0011470	Nasogastric tube feeding in infancy	2581	GALC	ORPHA:206436
HP:0011470	Nasogastric tube feeding in infancy	5660	PSAP	ORPHA:206436
HP:0011470	Nasogastric tube feeding in infancy	3190	HNRNPK	ORPHA:352665
HP:0011470	Nasogastric tube feeding in infancy	3190	HNRNPK	ORPHA:453504
HP:0011470	Nasogastric tube feeding in infancy	22827	PUF60	ORPHA:508488
HP:0011470	Nasogastric tube feeding in infancy	57190	SELENON	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	58	ACTA1	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	4633	MYL2	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	3679	ITGA7	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	7169	TPM2	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	9200	HACD1	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	7170	TPM3	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	51776	MAP3K20	ORPHA:2020
HP:0011470	Nasogastric tube feeding in infancy	4556	MT-TE	ORPHA:254864
HP:0011470	Nasogastric tube feeding in infancy	55687	TRMU	ORPHA:254864
HP:0011470	Nasogastric tube feeding in infancy	84706	GPT2	ORPHA:477673
HP:0011470	Nasogastric tube feeding in infancy	10342	TFG	ORPHA:90117
HP:0011470	Nasogastric tube feeding in infancy	2033	EP300	ORPHA:353284
HP:0011470	Nasogastric tube feeding in infancy	6638	SNRPN	ORPHA:177907
HP:0011470	Nasogastric tube feeding in infancy	673	BRAF	OMIM:613706
HP:0011470	Nasogastric tube feeding in infancy	3417	IDH1	ORPHA:99646
HP:0011473	Villous atrophy	4072	EPCAM	ORPHA:92050
HP:0011473	Villous atrophy	4072	EPCAM	OMIM:613217
HP:0011473	Villous atrophy	105371045	PERCC1	ORPHA:92050
HP:0011473	Villous atrophy	105371045	PERCC1	OMIM:618662
HP:0011473	Villous atrophy	4351	MPI	OMIM:602579
HP:0011473	Villous atrophy	6772	STAT1	ORPHA:391487
HP:0011473	Villous atrophy	6772	STAT1	OMIM:614162
HP:0011473	Villous atrophy	10043	TOM1	ORPHA:391487
HP:0011473	Villous atrophy	10043	TOM1	OMIM:619510
HP:0011473	Villous atrophy	5122	PCSK1	OMIM:600955
HP:0011473	Villous atrophy	55898	UNC45A	OMIM:619377
HP:0011473	Villous atrophy	7482	WNT2B	OMIM:618168
HP:0011473	Villous atrophy	6809	STX3	ORPHA:2290
HP:0011473	Villous atrophy	6809	STX3	OMIM:619445
HP:0011473	Villous atrophy	4645	MYO5B	ORPHA:2290
HP:0011473	Villous atrophy	4645	MYO5B	OMIM:251850
HP:0011473	Villous atrophy	50619	DEF6	OMIM:619573
HP:0011473	Villous atrophy	9652	SKIC3	OMIM:222470
HP:0011473	Villous atrophy	9652	SKIC3	ORPHA:84064
HP:0011473	Villous atrophy	4261	CIITA	OMIM:209920
HP:0011473	Villous atrophy	5994	RFXAP	OMIM:209920
HP:0011473	Villous atrophy	5993	RFX5	OMIM:209920
HP:0011473	Villous atrophy	8625	RFXANK	OMIM:209920
HP:0011473	Villous atrophy	6499	SKIC2	OMIM:614602
HP:0011473	Villous atrophy	6499	SKIC2	ORPHA:84064
HP:0011473	Villous atrophy	6868	ADAM17	OMIM:614328
HP:0011473	Villous atrophy	987	LRBA	OMIM:614700
HP:0011473	Villous atrophy	50943	FOXP3	OMIM:304790
HP:0011473	Villous atrophy	6850	SYK	OMIM:619381
HP:0011473	Villous atrophy	79796	ALG9	ORPHA:79328
HP:0011473	Villous atrophy	10195	ALG3	OMIM:601110
HP:0011473	Villous atrophy	58484	NLRC4	OMIM:616050
HP:0011473	Villous atrophy	8694	DGAT1	OMIM:615863
HP:0011473	Villous atrophy	11005	SPINK5	OMIM:256500
HP:0011473	Villous atrophy	3559	IL2RA	OMIM:606367
HP:0011473	Villous atrophy	5373	PMM2	OMIM:212065
HP:0011474	Childhood onset sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0011474	Childhood onset sensorineural hearing impairment	10804	GJB6	ORPHA:477
HP:0011474	Childhood onset sensorineural hearing impairment	2706	GJB2	ORPHA:477
HP:0011474	Childhood onset sensorineural hearing impairment	64072	CDH23	OMIM:601386
HP:0011474	Childhood onset sensorineural hearing impairment	491	ATP2B2	OMIM:601386
HP:0011474	Childhood onset sensorineural hearing impairment	126326	GIPC3	OMIM:601869
HP:0011474	Childhood onset sensorineural hearing impairment	83715	ESPN	OMIM:618632
HP:0011474	Childhood onset sensorineural hearing impairment	153562	MARVELD2	OMIM:610153
HP:0011474	Childhood onset sensorineural hearing impairment	107	ADCY1	OMIM:610154
HP:0011474	Childhood onset sensorineural hearing impairment	55699	IARS2	ORPHA:436174
HP:0011474	Childhood onset sensorineural hearing impairment	9750	RIPOR2	OMIM:616515
HP:0011474	Childhood onset sensorineural hearing impairment	3082	HGF	OMIM:608265
HP:0011474	Childhood onset sensorineural hearing impairment	1678	TIMM8A	OMIM:304700
HP:0011474	Childhood onset sensorineural hearing impairment	1678	TIMM8A	ORPHA:52368
HP:0011474	Childhood onset sensorineural hearing impairment	1690	COCH	OMIM:601369
HP:0011474	Childhood onset sensorineural hearing impairment	1757	SARDH	ORPHA:3129
HP:0011474	Childhood onset sensorineural hearing impairment	10216	PRG4	ORPHA:2848
HP:0011474	Childhood onset sensorineural hearing impairment	54820	NDE1	ORPHA:2177
HP:0011474	Childhood onset sensorineural hearing impairment	7084	TK2	ORPHA:254875
HP:0011474	Childhood onset sensorineural hearing impairment	26040	SETBP1	ORPHA:798
HP:0011476	Profound sensorineural hearing impairment	5962	RDX	OMIM:611022
HP:0011476	Profound sensorineural hearing impairment	3735	KARS1	OMIM:619196
HP:0011476	Profound sensorineural hearing impairment	10518	CIB2	OMIM:609439
HP:0011476	Profound sensorineural hearing impairment	5376	PMP22	ORPHA:90658
HP:0011476	Profound sensorineural hearing impairment	3753	KCNE1	ORPHA:90647
HP:0011476	Profound sensorineural hearing impairment	3784	KCNQ1	ORPHA:90647
HP:0011476	Profound sensorineural hearing impairment	5631	PRPS1	ORPHA:1187
HP:0011476	Profound sensorineural hearing impairment	6558	SLC12A2	OMIM:619081
HP:0011476	Profound sensorineural hearing impairment	51168	MYO15A	OMIM:600316
HP:0011476	Profound sensorineural hearing impairment	2248	FGF3	OMIM:610706
HP:0011477	Upbeat nystagmus	27245	AHDC1	ORPHA:412069
HP:0011477	Upbeat nystagmus	2259	FGF14	OMIM:193003
HP:0011478	True anophthalmia	220	ALDH1A3	OMIM:615113
HP:0011478	True anophthalmia	64093	SMOC1	ORPHA:1106
HP:0011479	Abnormal lacrimal punctum morphology	197131	UBR1	OMIM:243800
HP:0011479	Abnormal lacrimal punctum morphology	197131	UBR1	ORPHA:2315
HP:0011479	Abnormal lacrimal punctum morphology	8626	TP63	ORPHA:69085
HP:0011479	Abnormal lacrimal punctum morphology	8626	TP63	OMIM:129400
HP:0011479	Abnormal lacrimal punctum morphology	55012	PPP2R3C	OMIM:618419
HP:0011479	Abnormal lacrimal punctum morphology	2263	FGFR2	OMIM:149730
HP:0011479	Abnormal lacrimal punctum morphology	2263	FGFR2	ORPHA:2363
HP:0011479	Abnormal lacrimal punctum morphology	2261	FGFR3	ORPHA:2363
HP:0011479	Abnormal lacrimal punctum morphology	2255	FGF10	ORPHA:2363
HP:0011479	Abnormal lacrimal punctum morphology	668	FOXL2	ORPHA:572333
HP:0011472	Abnormality of small intestinal villus morphology	4072	EPCAM	ORPHA:92050
HP:0011472	Abnormality of small intestinal villus morphology	4072	EPCAM	OMIM:613217
HP:0011472	Abnormality of small intestinal villus morphology	105371045	PERCC1	ORPHA:92050
HP:0011472	Abnormality of small intestinal villus morphology	105371045	PERCC1	OMIM:618662
HP:0011472	Abnormality of small intestinal villus morphology	4351	MPI	OMIM:602579
HP:0011472	Abnormality of small intestinal villus morphology	6772	STAT1	ORPHA:391487
HP:0011472	Abnormality of small intestinal villus morphology	6772	STAT1	OMIM:614162
HP:0011472	Abnormality of small intestinal villus morphology	10043	TOM1	ORPHA:391487
HP:0011472	Abnormality of small intestinal villus morphology	10043	TOM1	OMIM:619510
HP:0011472	Abnormality of small intestinal villus morphology	5122	PCSK1	OMIM:600955
HP:0011472	Abnormality of small intestinal villus morphology	55898	UNC45A	OMIM:619377
HP:0011472	Abnormality of small intestinal villus morphology	7482	WNT2B	OMIM:618168
HP:0011472	Abnormality of small intestinal villus morphology	6809	STX3	ORPHA:2290
HP:0011472	Abnormality of small intestinal villus morphology	6809	STX3	OMIM:619445
HP:0011472	Abnormality of small intestinal villus morphology	4645	MYO5B	ORPHA:2290
HP:0011472	Abnormality of small intestinal villus morphology	4645	MYO5B	OMIM:251850
HP:0011472	Abnormality of small intestinal villus morphology	50619	DEF6	OMIM:619573
HP:0011472	Abnormality of small intestinal villus morphology	9652	SKIC3	OMIM:222470
HP:0011472	Abnormality of small intestinal villus morphology	9652	SKIC3	ORPHA:84064
HP:0011472	Abnormality of small intestinal villus morphology	4261	CIITA	OMIM:209920
HP:0011472	Abnormality of small intestinal villus morphology	5994	RFXAP	OMIM:209920
HP:0011472	Abnormality of small intestinal villus morphology	5993	RFX5	OMIM:209920
HP:0011472	Abnormality of small intestinal villus morphology	8625	RFXANK	OMIM:209920
HP:0011472	Abnormality of small intestinal villus morphology	6499	SKIC2	OMIM:614602
HP:0011472	Abnormality of small intestinal villus morphology	6499	SKIC2	ORPHA:84064
HP:0011472	Abnormality of small intestinal villus morphology	6868	ADAM17	OMIM:614328
HP:0011472	Abnormality of small intestinal villus morphology	987	LRBA	OMIM:614700
HP:0011472	Abnormality of small intestinal villus morphology	50943	FOXP3	OMIM:304790
HP:0011472	Abnormality of small intestinal villus morphology	6850	SYK	OMIM:619381
HP:0011472	Abnormality of small intestinal villus morphology	79796	ALG9	ORPHA:79328
HP:0011472	Abnormality of small intestinal villus morphology	10195	ALG3	OMIM:601110
HP:0011472	Abnormality of small intestinal villus morphology	58484	NLRC4	OMIM:616050
HP:0011472	Abnormality of small intestinal villus morphology	8694	DGAT1	OMIM:615863
HP:0011472	Abnormality of small intestinal villus morphology	11005	SPINK5	OMIM:256500
HP:0011472	Abnormality of small intestinal villus morphology	3559	IL2RA	OMIM:606367
HP:0011472	Abnormality of small intestinal villus morphology	5373	PMM2	OMIM:212065
HP:0008434	Hypoplastic cervical vertebrae	10682	EBP	ORPHA:35173
HP:0008434	Hypoplastic cervical vertebrae	1836	SLC26A2	ORPHA:93307
HP:0008434	Hypoplastic cervical vertebrae	1836	SLC26A2	ORPHA:56304
HP:0008434	Hypoplastic cervical vertebrae	1836	SLC26A2	OMIM:222600
HP:0008434	Hypoplastic cervical vertebrae	1836	SLC26A2	ORPHA:628
HP:0008434	Hypoplastic cervical vertebrae	59341	TRPV4	ORPHA:2635
HP:0008434	Hypoplastic cervical vertebrae	6662	SOX9	OMIM:114290
HP:0008434	Hypoplastic cervical vertebrae	347734	SLC35B2	OMIM:620269
HP:0008434	Hypoplastic cervical vertebrae	2317	FLNB	OMIM:150250
HP:0008434	Hypoplastic cervical vertebrae	415	ARSL	ORPHA:79345
HP:0008434	Hypoplastic cervical vertebrae	23126	POGZ	OMIM:616364
HP:0008417	Vertebral hypoplasia	79848	CSPP1	ORPHA:397715
HP:0008417	Vertebral hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0008417	Vertebral hypoplasia	90	ACVR1	OMIM:135100
HP:0008417	Vertebral hypoplasia	50814	NSDHL	OMIM:308050
HP:0008417	Vertebral hypoplasia	2335	FN1	ORPHA:93315
HP:0008417	Vertebral hypoplasia	1280	COL2A1	ORPHA:93315
HP:0008417	Vertebral hypoplasia	4990	SIX6	OMIM:206900
HP:0008417	Vertebral hypoplasia	6657	SOX2	OMIM:206900
HP:0008417	Vertebral hypoplasia	10992	SF3B2	OMIM:164210
HP:0008417	Vertebral hypoplasia	4853	NOTCH2	ORPHA:955
HP:0008417	Vertebral hypoplasia	10682	EBP	ORPHA:35173
HP:0008417	Vertebral hypoplasia	1836	SLC26A2	ORPHA:93307
HP:0008417	Vertebral hypoplasia	1836	SLC26A2	ORPHA:56304
HP:0008417	Vertebral hypoplasia	1836	SLC26A2	OMIM:222600
HP:0008417	Vertebral hypoplasia	1836	SLC26A2	ORPHA:628
HP:0008417	Vertebral hypoplasia	59341	TRPV4	ORPHA:2635
HP:0008417	Vertebral hypoplasia	6662	SOX9	OMIM:114290
HP:0008417	Vertebral hypoplasia	347734	SLC35B2	OMIM:620269
HP:0008417	Vertebral hypoplasia	2317	FLNB	OMIM:150250
HP:0008417	Vertebral hypoplasia	415	ARSL	ORPHA:79345
HP:0008417	Vertebral hypoplasia	23126	POGZ	OMIM:616364
HP:0008417	Vertebral hypoplasia	1182	CLCN3	OMIM:619512
HP:0008417	Vertebral hypoplasia	1301	COL11A1	OMIM:228520
HP:0008417	Vertebral hypoplasia	65992	DDRGK1	OMIM:602557
HP:0008417	Vertebral hypoplasia	65992	DDRGK1	ORPHA:93352
HP:0008417	Vertebral hypoplasia	6223	RPS19	OMIM:105650
HP:0008417	Vertebral hypoplasia	3930	LBR	OMIM:215140
HP:0008417	Vertebral hypoplasia	5573	PRKAR1A	ORPHA:280651
HP:0008417	Vertebral hypoplasia	5573	PRKAR1A	OMIM:101800
HP:0008417	Vertebral hypoplasia	5144	PDE4D	ORPHA:280651
HP:0008417	Vertebral hypoplasia	3636	INPPL1	OMIM:258480
HP:0008417	Vertebral hypoplasia	3636	INPPL1	ORPHA:2746
HP:0008417	Vertebral hypoplasia	3636	INPPL1	ORPHA:3144
HP:0008417	Vertebral hypoplasia	60561	RINT1	OMIM:618641
HP:0008417	Vertebral hypoplasia	2720	GLB1	OMIM:230500
HP:0008417	Vertebral hypoplasia	2720	GLB1	OMIM:230600
HP:0008417	Vertebral hypoplasia	2720	GLB1	ORPHA:79255
HP:0008417	Vertebral hypoplasia	10312	TCIRG1	ORPHA:1782
HP:0008417	Vertebral hypoplasia	55315	SLC29A3	ORPHA:1782
HP:0008417	Vertebral hypoplasia	8792	TNFRSF11A	ORPHA:1782
HP:0008417	Vertebral hypoplasia	23169	SLC35D1	ORPHA:3144
HP:0008417	Vertebral hypoplasia	2799	GNS	OMIM:252940
HP:0008417	Vertebral hypoplasia	11128	POLR3A	ORPHA:3455
HP:0008417	Vertebral hypoplasia	81839	VANGL1	ORPHA:3027
HP:0008417	Vertebral hypoplasia	80199	FUZ	ORPHA:3027
HP:0008417	Vertebral hypoplasia	285362	SUMF1	OMIM:272200
HP:0008416	Six lumbar vertebrae	2719	GPC3	OMIM:312870
HP:0008416	Six lumbar vertebrae	2239	GPC4	OMIM:312870
HP:0008416	Six lumbar vertebrae	10220	GDF11	OMIM:619122
HP:0008419	Intervertebral disc degeneration	4088	SMAD3	ORPHA:284984
HP:0008419	Intervertebral disc degeneration	4088	SMAD3	OMIM:613795
HP:0008419	Intervertebral disc degeneration	6899	TBX1	OMIM:188400
HP:0008419	Intervertebral disc degeneration	4087	SMAD2	OMIM:619656
HP:0008419	Intervertebral disc degeneration	3081	HGD	OMIM:203500
HP:0008419	Intervertebral disc degeneration	4000	LMNA	ORPHA:79474
HP:0008419	Intervertebral disc degeneration	4148	MATN3	ORPHA:93311
HP:0008418	Squared-off platyspondyly	65992	DDRGK1	ORPHA:93352
HP:0008420	Punctate vertebral calcifications	3930	LBR	OMIM:215140
HP:0008420	Punctate vertebral calcifications	10682	EBP	OMIM:302960
HP:0008420	Punctate vertebral calcifications	415	ARSL	ORPHA:79345
HP:0008421	Tall lumbar vertebral bodies	4853	NOTCH2	OMIM:102500
HP:0008422	Vertebral wedging	2535	FZD2	OMIM:164745
HP:0008422	Vertebral wedging	633	BGN	OMIM:300106
HP:0008422	Vertebral wedging	1280	COL2A1	ORPHA:485
HP:0008422	Vertebral wedging	1280	COL2A1	OMIM:616583
HP:0008422	Vertebral wedging	1280	COL2A1	ORPHA:93315
HP:0008422	Vertebral wedging	51360	MBTPS2	OMIM:301014
HP:0008422	Vertebral wedging	5727	PTCH1	ORPHA:377
HP:0008422	Vertebral wedging	5727	PTCH1	OMIM:109400
HP:0008422	Vertebral wedging	8643	PTCH2	ORPHA:377
HP:0008422	Vertebral wedging	51684	SUFU	ORPHA:377
HP:0008422	Vertebral wedging	112752	IFT43	OMIM:617866
HP:0008422	Vertebral wedging	8838	CCN6	ORPHA:1159
HP:0008422	Vertebral wedging	2335	FN1	ORPHA:93315
HP:0008422	Vertebral wedging	124583	CANT1	OMIM:617719
HP:0008422	Vertebral wedging	60681	FKBP10	OMIM:259450
HP:0008422	Vertebral wedging	60681	FKBP10	OMIM:610968
HP:0008422	Vertebral wedging	4882	NPR2	ORPHA:40
HP:0008422	Vertebral wedging	387733	IFITM5	OMIM:610967
HP:0008422	Vertebral wedging	59341	TRPV4	ORPHA:93314
HP:0008422	Vertebral wedging	411	ARSB	OMIM:253200
HP:0008422	Vertebral wedging	10484	SEC23A	OMIM:607812
HP:0008422	Vertebral wedging	10484	SEC23A	ORPHA:50814
HP:0008422	Vertebral wedging	10940	POP1	OMIM:617396
HP:0008422	Vertebral wedging	2176	FANCC	OMIM:227645
HP:0008424	Hypoplastic 5th lumbar vertebrae	4853	NOTCH2	ORPHA:955
HP:0001264	Spastic diplegia	1499	CTNNB1	OMIM:615075
HP:0001264	Spastic diplegia	8367	H4C5	OMIM:619950
HP:0001264	Spastic diplegia	8260	NAA10	OMIM:309800
HP:0001264	Spastic diplegia	54880	BCOR	OMIM:309800
HP:0001264	Spastic diplegia	8905	AP1S2	ORPHA:85335
HP:0001264	Spastic diplegia	6711	SPTBN1	OMIM:619475
HP:0001264	Spastic diplegia	25782	RAB3GAP2	OMIM:614225
HP:0001264	Spastic diplegia	25782	RAB3GAP2	OMIM:212720
HP:0001264	Spastic diplegia	4860	PNP	OMIM:613179
HP:0001264	Spastic diplegia	54820	NDE1	ORPHA:2177
HP:0001264	Spastic diplegia	8050	PDHX	ORPHA:255182
HP:0001264	Spastic diplegia	51218	GLRX5	ORPHA:401866
HP:0001264	Spastic diplegia	51218	GLRX5	OMIM:616859
HP:0001264	Spastic diplegia	2581	GALC	ORPHA:206443
HP:0001264	Spastic diplegia	2581	GALC	ORPHA:206436
HP:0001264	Spastic diplegia	2521	FUS	ORPHA:300605
HP:0001264	Spastic diplegia	80208	SPG11	ORPHA:300605
HP:0001264	Spastic diplegia	10280	SIGMAR1	ORPHA:300605
HP:0001264	Spastic diplegia	10558	SPTLC1	ORPHA:300605
HP:0001264	Spastic diplegia	57679	ALS2	ORPHA:300605
HP:0001264	Spastic diplegia	57679	ALS2	OMIM:205100
HP:0001264	Spastic diplegia	100147744	RNU7-1	OMIM:619487
HP:0001264	Spastic diplegia	6872	TAF1	OMIM:300966
HP:0001264	Spastic diplegia	6872	TAF1	ORPHA:480907
HP:0001264	Spastic diplegia	1615	DARS1	OMIM:615281
HP:0001264	Spastic diplegia	2316	FLNA	OMIM:300048
HP:0001264	Spastic diplegia	10157	AASS	ORPHA:2203
HP:0001264	Spastic diplegia	10157	AASS	ORPHA:3124
HP:0001264	Spastic diplegia	3295	HSD17B4	OMIM:233400
HP:0001264	Spastic diplegia	224	ALDH3A2	ORPHA:816
HP:0001264	Spastic diplegia	10084	PQBP1	ORPHA:93947
HP:0001264	Spastic diplegia	10166	SLC25A15	OMIM:238970
HP:0001264	Spastic diplegia	16	AARS1	OMIM:619691
HP:0001264	Spastic diplegia	55250	ELP2	OMIM:617270
HP:0001264	Spastic diplegia	54	ACP5	OMIM:607944
HP:0001264	Spastic diplegia	22930	RAB3GAP1	OMIM:600118
HP:0001264	Spastic diplegia	22930	RAB3GAP1	OMIM:619420
HP:0001264	Spastic diplegia	4915	NTRK2	OMIM:617830
HP:0001264	Spastic diplegia	10381	TUBB3	ORPHA:300570
HP:0001264	Spastic diplegia	5660	PSAP	ORPHA:206436
HP:0001264	Spastic diplegia	2639	GCDH	OMIM:231670
HP:0001264	Spastic diplegia	4697	NDUFA4	OMIM:619065
HP:0001264	Spastic diplegia	120	ADD3	OMIM:617008
HP:0001264	Spastic diplegia	128989	TANGO2	OMIM:616878
HP:0001264	Spastic diplegia	4990	SIX6	OMIM:206900
HP:0001264	Spastic diplegia	6657	SOX2	OMIM:206900
HP:0001264	Spastic diplegia	10075	HUWE1	OMIM:309590
HP:0001264	Spastic diplegia	3028	HSD17B10	ORPHA:391428
HP:0001269	Hemiparesis	5654	HTRA1	ORPHA:199354
HP:0001269	Hemiparesis	4558	MT-TF	ORPHA:550
HP:0001269	Hemiparesis	4558	MT-TF	OMIM:540000
HP:0001269	Hemiparesis	4572	MT-TQ	ORPHA:550
HP:0001269	Hemiparesis	4572	MT-TQ	OMIM:540000
HP:0001269	Hemiparesis	4512	MT-CO1	ORPHA:550
HP:0001269	Hemiparesis	4512	MT-CO1	OMIM:540000
HP:0001269	Hemiparesis	4513	MT-CO2	ORPHA:550
HP:0001269	Hemiparesis	4513	MT-CO2	OMIM:540000
HP:0001269	Hemiparesis	4514	MT-CO3	ORPHA:550
HP:0001269	Hemiparesis	4514	MT-CO3	OMIM:540000
HP:0001269	Hemiparesis	4578	MT-TW	ORPHA:550
HP:0001269	Hemiparesis	4578	MT-TW	OMIM:540000
HP:0001269	Hemiparesis	4540	MT-ND5	ORPHA:550
HP:0001269	Hemiparesis	4540	MT-ND5	OMIM:540000
HP:0001269	Hemiparesis	4541	MT-ND6	ORPHA:550
HP:0001269	Hemiparesis	4541	MT-ND6	OMIM:540000
HP:0001269	Hemiparesis	4535	MT-ND1	ORPHA:550
HP:0001269	Hemiparesis	4535	MT-ND1	OMIM:540000
HP:0001269	Hemiparesis	4538	MT-ND4	ORPHA:550
HP:0001269	Hemiparesis	4567	MT-TL1	ORPHA:550
HP:0001269	Hemiparesis	4567	MT-TL1	OMIM:540000
HP:0001269	Hemiparesis	4574	MT-TS1	ORPHA:550
HP:0001269	Hemiparesis	4574	MT-TS1	OMIM:540000
HP:0001269	Hemiparesis	4575	MT-TS2	ORPHA:550
HP:0001269	Hemiparesis	4575	MT-TS2	OMIM:540000
HP:0001269	Hemiparesis	4564	MT-TH	ORPHA:550
HP:0001269	Hemiparesis	4524	MTHFR	ORPHA:395
HP:0001269	Hemiparesis	2982	GUCY1A1	OMIM:615750
HP:0001269	Hemiparesis	11277	TREX1	OMIM:192315
HP:0001269	Hemiparesis	11277	TREX1	ORPHA:247691
HP:0001269	Hemiparesis	8314	BAP1	ORPHA:2495
HP:0001269	Hemiparesis	4771	NF2	ORPHA:2495
HP:0001269	Hemiparesis	4771	NF2	ORPHA:637
HP:0001269	Hemiparesis	6598	SMARCB1	ORPHA:2495
HP:0001269	Hemiparesis	5155	PDGFB	ORPHA:2495
HP:0001269	Hemiparesis	84231	TRAF7	ORPHA:2495
HP:0001269	Hemiparesis	6608	SMO	ORPHA:2495
HP:0001269	Hemiparesis	207	AKT1	ORPHA:2495
HP:0001269	Hemiparesis	5290	PIK3CA	ORPHA:2495
HP:0001269	Hemiparesis	5290	PIK3CA	ORPHA:99802
HP:0001269	Hemiparesis	7015	TERT	ORPHA:2495
HP:0001269	Hemiparesis	51684	SUFU	ORPHA:2495
HP:0001269	Hemiparesis	6605	SMARCE1	ORPHA:2495
HP:0001269	Hemiparesis	1282	COL4A1	OMIM:175780
HP:0001269	Hemiparesis	23600	AMACR	OMIM:614307
HP:0001269	Hemiparesis	7174	TPP2	ORPHA:444463
HP:0001269	Hemiparesis	51816	ADA2	ORPHA:820
HP:0001269	Hemiparesis	8405	SPOP	OMIM:618829
HP:0001269	Hemiparesis	2776	GNAQ	ORPHA:624
HP:0001269	Hemiparesis	478	ATP1A3	OMIM:601338
HP:0001269	Hemiparesis	1630	DCC	OMIM:617542
HP:0001269	Hemiparesis	50485	SMARCAL1	ORPHA:1830
HP:0001269	Hemiparesis	347733	TUBB2B	OMIM:610031
HP:0001269	Hemiparesis	347733	TUBB2B	ORPHA:300573
HP:0001269	Hemiparesis	57465	TBC1D24	ORPHA:352596
HP:0001269	Hemiparesis	57465	TBC1D24	OMIM:615338
HP:0001269	Hemiparesis	6507	SLC1A3	OMIM:612656
HP:0001269	Hemiparesis	29110	TBK1	OMIM:617900
HP:0001269	Hemiparesis	2475	MTOR	ORPHA:99802
HP:0001269	Hemiparesis	2475	MTOR	OMIM:607341
HP:0001269	Hemiparesis	10000	AKT3	ORPHA:99802
HP:0001269	Hemiparesis	10551	AGR2	OMIM:620233
HP:0001269	Hemiparesis	3516	RBPJ	ORPHA:974
HP:0001269	Hemiparesis	4851	NOTCH1	ORPHA:974
HP:0001269	Hemiparesis	57514	ARHGAP31	ORPHA:974
HP:0001269	Hemiparesis	57572	DOCK6	ORPHA:974
HP:0001269	Hemiparesis	285203	EOGT	ORPHA:974
HP:0001269	Hemiparesis	54567	DLL4	ORPHA:974
HP:0001269	Hemiparesis	284403	WDR62	OMIM:604317
HP:0001269	Hemiparesis	10059	DNM1L	ORPHA:98673
HP:0001269	Hemiparesis	4976	OPA1	ORPHA:98673
HP:0001269	Hemiparesis	4519	MT-CYB	OMIM:540000
HP:0001269	Hemiparesis	4511	MT-TC	OMIM:540000
HP:0001269	Hemiparesis	4566	MT-TK	OMIM:540000
HP:0001269	Hemiparesis	4577	MT-TV	OMIM:540000
HP:0001269	Hemiparesis	6513	SLC2A1	OMIM:606777
HP:0001269	Hemiparesis	6513	SLC2A1	ORPHA:71277
HP:0001269	Hemiparesis	23221	RHOBTB2	OMIM:618004
HP:0001269	Hemiparesis	215	ABCD1	ORPHA:139396
HP:0001269	Hemiparesis	9692	PRORP	OMIM:619737
HP:0001269	Hemiparesis	340665	CYP26C1	ORPHA:398189
HP:0001269	Hemiparesis	2260	FGFR1	ORPHA:2396
HP:0001269	Hemiparesis	3845	KRAS	ORPHA:2396
HP:0001269	Hemiparesis	3431	SP110	ORPHA:79124
HP:0001269	Hemiparesis	3119	HLA-DQB1	OMIM:123400
HP:0001269	Hemiparesis	3265	HRAS	ORPHA:2874
HP:0001269	Hemiparesis	773	CACNA1A	ORPHA:569
HP:0001269	Hemiparesis	773	CACNA1A	OMIM:141500
HP:0001269	Hemiparesis	112476	PRRT2	ORPHA:569
HP:0001269	Hemiparesis	6323	SCN1A	ORPHA:569
HP:0001269	Hemiparesis	6323	SCN1A	OMIM:609634
HP:0001269	Hemiparesis	477	ATP1A2	ORPHA:569
HP:0001269	Hemiparesis	477	ATP1A2	OMIM:602481
HP:0001269	Hemiparesis	7276	TTR	OMIM:105210
HP:0001269	Hemiparesis	7248	TSC1	OMIM:607341
HP:0001269	Hemiparesis	7249	TSC2	OMIM:607341
HP:0001269	Hemiparesis	2632	GBE1	ORPHA:206583
HP:0001269	Hemiparesis	6899	TBX1	OMIM:188400
HP:0001269	Hemiparesis	7098	TLR3	OMIM:613002
HP:0001269	Hemiparesis	8398	PLA2G6	OMIM:612953
HP:0001269	Hemiparesis	3075	CFH	OMIM:235400
HP:0001269	Hemiparesis	3078	CFHR1	OMIM:235400
HP:0001269	Hemiparesis	10878	CFHR3	OMIM:235400
HP:0001269	Hemiparesis	4854	NOTCH3	OMIM:125310
HP:0001269	Hemiparesis	55901	THSD1	ORPHA:231160
HP:0001269	Hemiparesis	7049	TGFBR3	ORPHA:231160
HP:0001269	Hemiparesis	1281	COL3A1	ORPHA:231160
HP:0001269	Hemiparesis	83854	ANGPTL6	ORPHA:231160
HP:0001269	Hemiparesis	2022	ENG	ORPHA:231160
HP:0001269	Hemiparesis	149233	IL23R	ORPHA:117
HP:0001269	Hemiparesis	6775	STAT4	ORPHA:117
HP:0001269	Hemiparesis	3586	IL10	ORPHA:117
HP:0001269	Hemiparesis	4210	MEFV	ORPHA:117
HP:0001269	Hemiparesis	1230	CCR1	ORPHA:117
HP:0001269	Hemiparesis	355	FAS	ORPHA:117
HP:0001269	Hemiparesis	3592	IL12A	ORPHA:117
HP:0001269	Hemiparesis	101928376	IL12A-AS1	ORPHA:117
HP:0001269	Hemiparesis	3106	HLA-B	ORPHA:117
HP:0001269	Hemiparesis	7099	TLR4	ORPHA:117
HP:0001269	Hemiparesis	3459	IFNGR1	ORPHA:117
HP:0001269	Hemiparesis	720	C4A	ORPHA:117
HP:0001269	Hemiparesis	337867	UBAC2	ORPHA:117
HP:0001269	Hemiparesis	51752	ERAP1	ORPHA:117
HP:0001269	Hemiparesis	8302	KLRC4	ORPHA:117
HP:0001269	Hemiparesis	79029	AFG2B	OMIM:619616
HP:0001269	Hemiparesis	5621	PRNP	ORPHA:282166
HP:0001269	Hemiparesis	3155	HMGCL	ORPHA:20
HP:0011481	Abnormal lacrimal duct morphology	23347	SMCHD1	OMIM:603457
HP:0011481	Abnormal lacrimal duct morphology	5077	PAX3	ORPHA:1529
HP:0011481	Abnormal lacrimal duct morphology	54539	NDUFB11	OMIM:300952
HP:0011481	Abnormal lacrimal duct morphology	23483	TGDS	OMIM:616145
HP:0011481	Abnormal lacrimal duct morphology	55651	NHP2	OMIM:224230
HP:0011481	Abnormal lacrimal duct morphology	55505	NOP10	OMIM:224230
HP:0011481	Abnormal lacrimal duct morphology	1387	CREBBP	OMIM:180849
HP:0011481	Abnormal lacrimal duct morphology	1387	CREBBP	ORPHA:353277
HP:0011481	Abnormal lacrimal duct morphology	2033	EP300	OMIM:180849
HP:0011481	Abnormal lacrimal duct morphology	2033	EP300	ORPHA:353284
HP:0011481	Abnormal lacrimal duct morphology	57479	PRR12	OMIM:619539
HP:0011481	Abnormal lacrimal duct morphology	158326	FREM1	ORPHA:2717
HP:0011481	Abnormal lacrimal duct morphology	158326	FREM1	OMIM:248450
HP:0011481	Abnormal lacrimal duct morphology	3166	HMX1	OMIM:612109
HP:0011481	Abnormal lacrimal duct morphology	79650	USB1	OMIM:604173
HP:0011481	Abnormal lacrimal duct morphology	7020	TFAP2A	OMIM:113620
HP:0011481	Abnormal lacrimal duct morphology	7020	TFAP2A	ORPHA:1297
HP:0011481	Abnormal lacrimal duct morphology	55553	SOX6	OMIM:618971
HP:0011481	Abnormal lacrimal duct morphology	6872	TAF1	OMIM:300966
HP:0011481	Abnormal lacrimal duct morphology	1954	MEGF8	OMIM:614976
HP:0011481	Abnormal lacrimal duct morphology	8626	TP63	ORPHA:978
HP:0011481	Abnormal lacrimal duct morphology	8626	TP63	OMIM:103285
HP:0011481	Abnormal lacrimal duct morphology	9126	SMC3	OMIM:610759
HP:0011481	Abnormal lacrimal duct morphology	9968	MED12	OMIM:301068
HP:0011481	Abnormal lacrimal duct morphology	7528	YY1	ORPHA:506358
HP:0011481	Abnormal lacrimal duct morphology	9791	PTDSS1	OMIM:151050
HP:0011481	Abnormal lacrimal duct morphology	5075	PAX1	OMIM:615560
HP:0011481	Abnormal lacrimal duct morphology	6949	TCOF1	OMIM:154500
HP:0011481	Abnormal lacrimal duct morphology	7994	KAT6A	OMIM:616268
HP:0011481	Abnormal lacrimal duct morphology	7994	KAT6A	ORPHA:457193
HP:0011481	Abnormal lacrimal duct morphology	200424	TET3	OMIM:618798
HP:0011481	Abnormal lacrimal duct morphology	5500	PPP1CB	OMIM:617506
HP:0011481	Abnormal lacrimal duct morphology	200734	SPRED2	OMIM:619745
HP:0011481	Abnormal lacrimal duct morphology	90417	KNSTRN	OMIM:613328
HP:0011481	Abnormal lacrimal duct morphology	90417	KNSTRN	ORPHA:221139
HP:0011481	Abnormal lacrimal duct morphology	5293	PIK3CD	OMIM:613328
HP:0011481	Abnormal lacrimal duct morphology	5293	PIK3CD	ORPHA:221139
HP:0011481	Abnormal lacrimal duct morphology	977	CD151	OMIM:609057
HP:0011481	Abnormal lacrimal duct morphology	1281	COL3A1	ORPHA:286
HP:0011481	Abnormal lacrimal duct morphology	341640	FREM2	ORPHA:2052
HP:0011481	Abnormal lacrimal duct morphology	80144	FRAS1	ORPHA:2052
HP:0011481	Abnormal lacrimal duct morphology	80144	FRAS1	OMIM:219000
HP:0011481	Abnormal lacrimal duct morphology	23426	GRIP1	ORPHA:2052
HP:0011481	Abnormal lacrimal duct morphology	8295	TRRAP	OMIM:618454
HP:0011481	Abnormal lacrimal duct morphology	8085	KMT2D	OMIM:620186
HP:0011481	Abnormal lacrimal duct morphology	2263	FGFR2	ORPHA:2363
HP:0011481	Abnormal lacrimal duct morphology	2261	FGFR3	ORPHA:2363
HP:0011481	Abnormal lacrimal duct morphology	2255	FGF10	ORPHA:2363
HP:0011481	Abnormal lacrimal duct morphology	668	FOXL2	ORPHA:572333
HP:0011481	Abnormal lacrimal duct morphology	2138	EYA1	ORPHA:107
HP:0011481	Abnormal lacrimal duct morphology	147912	SIX5	ORPHA:107
HP:0011481	Abnormal lacrimal duct morphology	6495	SIX1	ORPHA:107
HP:0011481	Abnormal lacrimal duct morphology	3321	IGSF3	OMIM:149700
HP:0011481	Abnormal lacrimal duct morphology	23137	SMC5	OMIM:620185
HP:0011482	Abnormal lacrimal gland morphology	6663	SOX10	OMIM:613266
HP:0011482	Abnormal lacrimal gland morphology	668	FOXL2	ORPHA:572333
HP:0011482	Abnormal lacrimal gland morphology	3123	HLA-DRB1	OMIM:181000
HP:0011482	Abnormal lacrimal gland morphology	3123	HLA-DRB1	ORPHA:797
HP:0011482	Abnormal lacrimal gland morphology	56244	BTNL2	ORPHA:797
HP:0011482	Abnormal lacrimal gland morphology	10804	GJB6	ORPHA:477
HP:0011482	Abnormal lacrimal gland morphology	2706	GJB2	ORPHA:477
HP:0011482	Abnormal lacrimal gland morphology	29957	SLC25A24	OMIM:612289
HP:0011482	Abnormal lacrimal gland morphology	2263	FGFR2	ORPHA:2363
HP:0011482	Abnormal lacrimal gland morphology	2261	FGFR3	ORPHA:2363
HP:0011482	Abnormal lacrimal gland morphology	2255	FGF10	ORPHA:2363
HP:0011480	Unilateral microphthalmos	55636	CHD7	OMIM:214800
HP:0011480	Unilateral microphthalmos	6650	CAPN15	OMIM:619318
HP:0011480	Unilateral microphthalmos	29887	SNX10	OMIM:615085
HP:0011480	Unilateral microphthalmos	5080	PAX6	ORPHA:137902
HP:0011480	Unilateral microphthalmos	114928	GPRASP2	OMIM:301018
HP:0011484	Posterior synechiae of the anterior chamber	220202	ATOH7	OMIM:221900
HP:0011484	Posterior synechiae of the anterior chamber	9227	LRAT	ORPHA:364055
HP:0011484	Posterior synechiae of the anterior chamber	55812	SPATA7	ORPHA:364055
HP:0011484	Posterior synechiae of the anterior chamber	6121	RPE65	ORPHA:364055
HP:0011484	Posterior synechiae of the anterior chamber	167691	LCA5	ORPHA:364055
HP:0011484	Posterior synechiae of the anterior chamber	170691	ADAMTS17	OMIM:613195
HP:0011484	Posterior synechiae of the anterior chamber	9215	LARGE1	OMIM:613154
HP:0011484	Posterior synechiae of the anterior chamber	406987	MIR204	OMIM:616722
HP:0011484	Posterior synechiae of the anterior chamber	1545	CYP1B1	OMIM:617315
HP:0011484	Posterior synechiae of the anterior chamber	2301	FOXE3	OMIM:610256
HP:0011484	Posterior synechiae of the anterior chamber	3166	HMX1	OMIM:612109
HP:0011484	Posterior synechiae of the anterior chamber	2296	FOXC1	OMIM:602482
HP:0011486	Abnormality of corneal thickness	1281	COL3A1	OMIM:130050
HP:0011486	Abnormality of corneal thickness	1281	COL3A1	ORPHA:286
HP:0011486	Abnormality of corneal thickness	3769	KCNJ13	ORPHA:65
HP:0011486	Abnormality of corneal thickness	343035	RD3	ORPHA:65
HP:0011486	Abnormality of corneal thickness	145226	RDH12	ORPHA:65
HP:0011486	Abnormality of corneal thickness	145226	RDH12	ORPHA:791
HP:0011486	Abnormality of corneal thickness	1406	CRX	ORPHA:65
HP:0011486	Abnormality of corneal thickness	1406	CRX	ORPHA:791
HP:0011486	Abnormality of corneal thickness	1406	CRX	OMIM:613829
HP:0011486	Abnormality of corneal thickness	64802	NMNAT1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	64802	NMNAT1	OMIM:608553
HP:0011486	Abnormality of corneal thickness	57096	RPGRIP1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	57096	RPGRIP1	OMIM:613826
HP:0011486	Abnormality of corneal thickness	80184	CEP290	ORPHA:65
HP:0011486	Abnormality of corneal thickness	10383	TUBB4B	ORPHA:65
HP:0011486	Abnormality of corneal thickness	9742	IFT140	ORPHA:65
HP:0011486	Abnormality of corneal thickness	9742	IFT140	ORPHA:791
HP:0011486	Abnormality of corneal thickness	85015	USP45	ORPHA:65
HP:0011486	Abnormality of corneal thickness	6121	RPE65	ORPHA:65
HP:0011486	Abnormality of corneal thickness	6121	RPE65	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6121	RPE65	OMIM:204100
HP:0011486	Abnormality of corneal thickness	23418	CRB1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	23418	CRB1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	23418	CRB1	OMIM:613835
HP:0011486	Abnormality of corneal thickness	5130	PCYT1A	ORPHA:65
HP:0011486	Abnormality of corneal thickness	9657	IQCB1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	392255	GDF6	ORPHA:65
HP:0011486	Abnormality of corneal thickness	23746	AIPL1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	23746	AIPL1	OMIM:604393
HP:0011486	Abnormality of corneal thickness	3000	GUCY2D	ORPHA:65
HP:0011486	Abnormality of corneal thickness	3000	GUCY2D	OMIM:204000
HP:0011486	Abnormality of corneal thickness	9227	LRAT	ORPHA:65
HP:0011486	Abnormality of corneal thickness	9227	LRAT	ORPHA:791
HP:0011486	Abnormality of corneal thickness	55812	SPATA7	ORPHA:65
HP:0011486	Abnormality of corneal thickness	55812	SPATA7	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7287	TULP1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	7287	TULP1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	167691	LCA5	ORPHA:65
HP:0011486	Abnormality of corneal thickness	3614	IMPDH1	ORPHA:65
HP:0011486	Abnormality of corneal thickness	3614	IMPDH1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7025	NR2F1	ORPHA:401777
HP:0011486	Abnormality of corneal thickness	92840	REEP6	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6094	ROM1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6017	RLBP1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7401	CLRN1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	24	ABCA4	ORPHA:791
HP:0011486	Abnormality of corneal thickness	130557	ZNF513	ORPHA:791
HP:0011486	Abnormality of corneal thickness	582	BBS1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	92211	CDHR1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	23568	ARL2BP	ORPHA:791
HP:0011486	Abnormality of corneal thickness	54806	AHI1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6101	RP1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	3419	IDH3A	ORPHA:791
HP:0011486	Abnormality of corneal thickness	4751	NEK2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	346007	EYS	ORPHA:791
HP:0011486	Abnormality of corneal thickness	8100	IFT88	ORPHA:791
HP:0011486	Abnormality of corneal thickness	23020	SNRNP200	ORPHA:791
HP:0011486	Abnormality of corneal thickness	762	CA4	ORPHA:791
HP:0011486	Abnormality of corneal thickness	138050	HGSNAT	ORPHA:791
HP:0011486	Abnormality of corneal thickness	196	AHR	ORPHA:791
HP:0011486	Abnormality of corneal thickness	123016	TTC8	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6103	RPGR	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5148	PDE6G	ORPHA:791
HP:0011486	Abnormality of corneal thickness	26160	IFT172	ORPHA:791
HP:0011486	Abnormality of corneal thickness	26121	PRPF31	ORPHA:791
HP:0011486	Abnormality of corneal thickness	583	BBS2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	4117	MAK	ORPHA:791
HP:0011486	Abnormality of corneal thickness	25794	FSCN2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	375298	CERKL	ORPHA:791
HP:0011486	Abnormality of corneal thickness	3420	IDH3B	ORPHA:791
HP:0011486	Abnormality of corneal thickness	57670	KIAA1549	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7275	TUB	ORPHA:791
HP:0011486	Abnormality of corneal thickness	24148	PRPF6	ORPHA:791
HP:0011486	Abnormality of corneal thickness	10461	MERTK	ORPHA:791
HP:0011486	Abnormality of corneal thickness	57709	SLC7A14	ORPHA:791
HP:0011486	Abnormality of corneal thickness	768206	PRCD	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7399	USH2A	ORPHA:791
HP:0011486	Abnormality of corneal thickness	23370	ARHGEF18	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5949	RBP3	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6010	RHO	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6100	RP9	ORPHA:791
HP:0011486	Abnormality of corneal thickness	10002	NR2E3	ORPHA:791
HP:0011486	Abnormality of corneal thickness	84140	FAM161A	ORPHA:791
HP:0011486	Abnormality of corneal thickness	55624	POMGNT1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	79797	ZNF408	ORPHA:791
HP:0011486	Abnormality of corneal thickness	403	ARL3	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5145	PDE6A	ORPHA:791
HP:0011486	Abnormality of corneal thickness	10210	TOPORS	ORPHA:791
HP:0011486	Abnormality of corneal thickness	8842	PROM1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	9128	PRPF4	ORPHA:791
HP:0011486	Abnormality of corneal thickness	50939	IMPG2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	8481	OFD1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	49855	SCAPER	ORPHA:791
HP:0011486	Abnormality of corneal thickness	2979	GUCA1B	ORPHA:791
HP:0011486	Abnormality of corneal thickness	1259	CNGA1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	1258	CNGB1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	60509	AGBL5	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5961	PRPH2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	388939	PCARE	ORPHA:791
HP:0011486	Abnormality of corneal thickness	7439	BEST1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	9785	DHX38	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5995	RGR	ORPHA:791
HP:0011486	Abnormality of corneal thickness	9129	PRPF3	ORPHA:791
HP:0011486	Abnormality of corneal thickness	55975	KLHL7	ORPHA:791
HP:0011486	Abnormality of corneal thickness	3617	IMPG1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	94137	RP1L1	ORPHA:791
HP:0011486	Abnormality of corneal thickness	5158	PDE6B	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6102	RP2	ORPHA:791
HP:0011486	Abnormality of corneal thickness	55857	KIZ	ORPHA:791
HP:0011486	Abnormality of corneal thickness	64218	SEMA4A	ORPHA:791
HP:0011486	Abnormality of corneal thickness	4901	NRL	ORPHA:791
HP:0011486	Abnormality of corneal thickness	157657	CFAP418	ORPHA:791
HP:0011486	Abnormality of corneal thickness	10594	PRPF8	ORPHA:791
HP:0011486	Abnormality of corneal thickness	84100	ARL6	ORPHA:791
HP:0011486	Abnormality of corneal thickness	6295	SAG	ORPHA:791
HP:0011486	Abnormality of corneal thickness	79947	DHDDS	ORPHA:791
HP:0011486	Abnormality of corneal thickness	81031	SLC2A10	OMIM:208050
HP:0011486	Abnormality of corneal thickness	81031	SLC2A10	ORPHA:3342
HP:0011486	Abnormality of corneal thickness	5351	PLOD1	OMIM:225400
HP:0011486	Abnormality of corneal thickness	6935	ZEB1	OMIM:609141
HP:0011486	Abnormality of corneal thickness	84168	ANTXR1	OMIM:230740
HP:0011486	Abnormality of corneal thickness	84168	ANTXR1	ORPHA:2067
HP:0011486	Abnormality of corneal thickness	30813	VSX1	OMIM:148300
HP:0011486	Abnormality of corneal thickness	406960	MIR184	OMIM:614303
HP:0011486	Abnormality of corneal thickness	63895	PIEZO2	OMIM:108145
HP:0011486	Abnormality of corneal thickness	3265	HRAS	ORPHA:3071
HP:0011486	Abnormality of corneal thickness	4010	LMX1B	OMIM:161200
HP:0011486	Abnormality of corneal thickness	162	AP1B1	OMIM:242150
HP:0011486	Abnormality of corneal thickness	10681	GNB5	ORPHA:542306
HP:0011486	Abnormality of corneal thickness	83959	SLC4A11	OMIM:217700
HP:0011486	Abnormality of corneal thickness	83959	SLC4A11	ORPHA:293603
HP:0011486	Abnormality of corneal thickness	1634	DCN	OMIM:610048
HP:0011486	Abnormality of corneal thickness	2263	FGFR2	ORPHA:2363
HP:0011486	Abnormality of corneal thickness	2261	FGFR3	ORPHA:2363
HP:0011486	Abnormality of corneal thickness	2255	FGF10	ORPHA:2363
HP:0011486	Abnormality of corneal thickness	11081	KERA	OMIM:217300
HP:0011486	Abnormality of corneal thickness	4166	CHST6	ORPHA:98969
HP:0011486	Abnormality of corneal thickness	91851	CHRDL1	OMIM:309300
HP:0011486	Abnormality of corneal thickness	113457	TUBA3D	OMIM:617928
HP:0011486	Abnormality of corneal thickness	11107	PRDM5	OMIM:614170
HP:0011486	Abnormality of corneal thickness	11107	PRDM5	ORPHA:90354
HP:0011486	Abnormality of corneal thickness	4921	DDR2	OMIM:618175
HP:0011486	Abnormality of corneal thickness	84627	ZNF469	ORPHA:90354
HP:0011486	Abnormality of corneal thickness	84627	ZNF469	OMIM:229200
HP:0011487	Increased corneal thickness	83959	SLC4A11	OMIM:217700
HP:0011487	Increased corneal thickness	83959	SLC4A11	ORPHA:293603
HP:0011487	Increased corneal thickness	1634	DCN	OMIM:610048
HP:0011487	Increased corneal thickness	2263	FGFR2	ORPHA:2363
HP:0011487	Increased corneal thickness	2261	FGFR3	ORPHA:2363
HP:0011487	Increased corneal thickness	2255	FGF10	ORPHA:2363
HP:0011488	Abnormal corneal endothelium morphology	9227	LRAT	ORPHA:364055
HP:0011488	Abnormal corneal endothelium morphology	55812	SPATA7	ORPHA:364055
HP:0011488	Abnormal corneal endothelium morphology	6121	RPE65	ORPHA:364055
HP:0011488	Abnormal corneal endothelium morphology	167691	LCA5	ORPHA:364055
HP:0011488	Abnormal corneal endothelium morphology	1545	CYP1B1	OMIM:617315
HP:0011488	Abnormal corneal endothelium morphology	6935	ZEB1	ORPHA:98973
HP:0011488	Abnormal corneal endothelium morphology	6935	ZEB1	ORPHA:98974
HP:0011488	Abnormal corneal endothelium morphology	30813	VSX1	ORPHA:98973
HP:0011488	Abnormal corneal endothelium morphology	58495	OVOL2	ORPHA:98973
HP:0011488	Abnormal corneal endothelium morphology	79977	GRHL2	ORPHA:98973
HP:0011488	Abnormal corneal endothelium morphology	1296	COL8A2	ORPHA:98973
HP:0011488	Abnormal corneal endothelium morphology	1296	COL8A2	ORPHA:98974
HP:0011488	Abnormal corneal endothelium morphology	123624	AGBL1	ORPHA:98974
HP:0011488	Abnormal corneal endothelium morphology	6925	TCF4	ORPHA:98974
HP:0011488	Abnormal corneal endothelium morphology	83959	SLC4A11	ORPHA:98974
HP:0011488	Abnormal corneal endothelium morphology	3769	KCNJ13	OMIM:193230
HP:0011488	Abnormal corneal endothelium morphology	5080	PAX6	ORPHA:708
HP:0011488	Abnormal corneal endothelium morphology	2301	FOXE3	ORPHA:708
HP:0011488	Abnormal corneal endothelium morphology	5308	PITX2	ORPHA:708
HP:0011488	Abnormal corneal endothelium morphology	2296	FOXC1	ORPHA:708
HP:0011489	Abnormal migration of corneal endothelium	58495	OVOL2	OMIM:122000
HP:0011483	Anterior synechiae of the anterior chamber	444	ASPH	OMIM:601552
HP:0011483	Anterior synechiae of the anterior chamber	58495	OVOL2	OMIM:122000
HP:0011483	Anterior synechiae of the anterior chamber	58495	OVOL2	ORPHA:98973
HP:0011483	Anterior synechiae of the anterior chamber	7837	PXDN	OMIM:269400
HP:0011483	Anterior synechiae of the anterior chamber	5080	PAX6	OMIM:604229
HP:0011483	Anterior synechiae of the anterior chamber	5080	PAX6	ORPHA:708
HP:0011483	Anterior synechiae of the anterior chamber	1545	CYP1B1	ORPHA:708
HP:0011483	Anterior synechiae of the anterior chamber	2301	FOXE3	ORPHA:708
HP:0011483	Anterior synechiae of the anterior chamber	5308	PITX2	ORPHA:708
HP:0011483	Anterior synechiae of the anterior chamber	2296	FOXC1	ORPHA:708
HP:0011483	Anterior synechiae of the anterior chamber	30813	VSX1	OMIM:614195
HP:0011483	Anterior synechiae of the anterior chamber	30813	VSX1	ORPHA:98973
HP:0011483	Anterior synechiae of the anterior chamber	6935	ZEB1	ORPHA:98973
HP:0011483	Anterior synechiae of the anterior chamber	79977	GRHL2	ORPHA:98973
HP:0011483	Anterior synechiae of the anterior chamber	1296	COL8A2	ORPHA:98973
HP:0011483	Anterior synechiae of the anterior chamber	80781	COL18A1	OMIM:618880
HP:0004629	Small cervical vertebral bodies	79848	CSPP1	ORPHA:397715
HP:0004629	Small cervical vertebral bodies	9786	KIAA0586	ORPHA:397715
HP:0004629	Small cervical vertebral bodies	90	ACVR1	OMIM:135100
HP:0008450	Narrow vertebral interpedicular distance	9469	CHST3	OMIM:143095
HP:0008450	Narrow vertebral interpedicular distance	10236	HNRNPR	OMIM:620073
HP:0008450	Narrow vertebral interpedicular distance	5573	PRKAR1A	ORPHA:280651
HP:0008450	Narrow vertebral interpedicular distance	5573	PRKAR1A	OMIM:101800
HP:0008450	Narrow vertebral interpedicular distance	5144	PDE4D	ORPHA:280651
HP:0008450	Narrow vertebral interpedicular distance	6023	RMRP	OMIM:250250
HP:0008450	Narrow vertebral interpedicular distance	2261	FGFR3	OMIM:100800
HP:0008450	Narrow vertebral interpedicular distance	65992	DDRGK1	OMIM:602557
HP:0008450	Narrow vertebral interpedicular distance	65992	DDRGK1	ORPHA:93352
HP:0008450	Narrow vertebral interpedicular distance	4054	LTBP3	OMIM:601216
HP:0008450	Narrow vertebral interpedicular distance	23169	SLC35D1	OMIM:269250
HP:0008450	Narrow vertebral interpedicular distance	23233	EXOC6B	OMIM:618395
HP:0008450	Narrow vertebral interpedicular distance	4796	TONSL	OMIM:271510
HP:0008450	Narrow vertebral interpedicular distance	3835	KIF22	OMIM:603546
HP:0008450	Narrow vertebral interpedicular distance	79158	GNPTAB	OMIM:252500
HP:0008450	Narrow vertebral interpedicular distance	4882	NPR2	OMIM:602875
HP:0004606	Unossified vertebral bodies	9321	TRIP11	OMIM:200600
HP:0004606	Unossified vertebral bodies	249	ALPL	OMIM:241500
HP:0004606	Unossified vertebral bodies	168667	BMPER	OMIM:608022
HP:0031849	Sleep-wake inversion	2799	GNS	OMIM:252940
HP:0031849	Sleep-wake inversion	10743	RAI1	OMIM:182290
HP:0008432	Anterior wedging of L1	411	ARSB	OMIM:253200
HP:0001273	Abnormal corpus callosum morphology	87178	PNPT1	ORPHA:319514
HP:0001273	Abnormal corpus callosum morphology	9342	SNAP29	OMIM:609528
HP:0001273	Abnormal corpus callosum morphology	9342	SNAP29	ORPHA:66631
HP:0001273	Abnormal corpus callosum morphology	5528	PPP2R5D	ORPHA:457279
HP:0001273	Abnormal corpus callosum morphology	51259	TMEM216	OMIM:608091
HP:0001273	Abnormal corpus callosum morphology	4297	KMT2A	ORPHA:319182
HP:0001273	Abnormal corpus callosum morphology	55904	KMT2E	OMIM:618512
HP:0001273	Abnormal corpus callosum morphology	3737	KCNA2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	10991	SLC38A3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	51343	FZR1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	22906	TRAK1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2566	GABRG2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	1917	EEF1A2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2561	GABRB2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	8831	SYNGAP1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	7532	YWHAG	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2906	GRIN2D	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	116150	NUS1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	10659	CELF2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	774	CACNA1B	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	1213	CLTC	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23334	SZT2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	348980	HCN1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	8867	SYNJ1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2258	FGF13	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	477	ATP1A2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	3745	KCNB1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	284111	SLC13A5	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	25977	NECAP1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	16	AARS1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	6334	SCN8A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	22866	CNKSR2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	9568	GABBR2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2555	GABRA2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	55152	DALRD3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	773	CACNA1A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	26999	CYFIP2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	4915	NTRK2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23097	CDK19	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	64801	ARV1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	79947	DHDDS	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2257	FGF12	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	5530	PPP3CA	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	478	ATP1A3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2581	GALC	ORPHA:206448
HP:0001273	Abnormal corpus callosum morphology	5354	PLP1	ORPHA:280229
HP:0001273	Abnormal corpus callosum morphology	8241	RBM10	ORPHA:2886
HP:0001273	Abnormal corpus callosum morphology	267010	RNU12	ORPHA:512260
HP:0001273	Abnormal corpus callosum morphology	3423	IDS	ORPHA:217093
HP:0001273	Abnormal corpus callosum morphology	3476	IGBP1	OMIM:300472
HP:0001273	Abnormal corpus callosum morphology	3476	IGBP1	ORPHA:52055
HP:0001273	Abnormal corpus callosum morphology	23141	ANKLE2	OMIM:616681
HP:0001273	Abnormal corpus callosum morphology	23141	ANKLE2	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1024	CDK8	OMIM:618748
HP:0001273	Abnormal corpus callosum morphology	10992	SF3B2	OMIM:164210
HP:0001273	Abnormal corpus callosum morphology	2731	GLDC	OMIM:605899
HP:0001273	Abnormal corpus callosum morphology	275	AMT	OMIM:605899
HP:0001273	Abnormal corpus callosum morphology	55112	DYNC2I1	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	57560	IFT80	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	57539	WDR35	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	79659	DYNC2H1	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	79659	DYNC2H1	OMIM:613091
HP:0001273	Abnormal corpus callosum morphology	89891	DYNC2I2	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	51112	TRAPPC12	ORPHA:500144
HP:0001273	Abnormal corpus callosum morphology	51112	TRAPPC12	OMIM:617669
HP:0001273	Abnormal corpus callosum morphology	2073	ERCC5	OMIM:616570
HP:0001273	Abnormal corpus callosum morphology	9578	CDC42BPB	OMIM:619841
HP:0001273	Abnormal corpus callosum morphology	3020	H3-3A	OMIM:619720
HP:0001273	Abnormal corpus callosum morphology	2737	GLI3	ORPHA:380
HP:0001273	Abnormal corpus callosum morphology	2737	GLI3	OMIM:175700
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	OMIM:617542
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	OMIM:157600
HP:0001273	Abnormal corpus callosum morphology	6576	SLC25A1	OMIM:618197
HP:0001273	Abnormal corpus callosum morphology	23322	RPGRIP1L	ORPHA:220497
HP:0001273	Abnormal corpus callosum morphology	4867	NPHP1	ORPHA:220497
HP:0001273	Abnormal corpus callosum morphology	22858	CILK1	OMIM:612651
HP:0001273	Abnormal corpus callosum morphology	54806	AHI1	ORPHA:220493
HP:0001273	Abnormal corpus callosum morphology	56623	INPP5E	ORPHA:220493
HP:0001273	Abnormal corpus callosum morphology	54903	MKS1	ORPHA:220493
HP:0001273	Abnormal corpus callosum morphology	54903	MKS1	OMIM:249000
HP:0001273	Abnormal corpus callosum morphology	95681	CEP41	ORPHA:220493
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	OMIM:615249
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	OMIM:269160
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	OMIM:157170
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	OMIM:269160
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	51684	SUFU	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	OMIM:610828
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:280200
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	OMIM:614226
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	ORPHA:87
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	OMIM:123790
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	OMIM:101200
HP:0001273	Abnormal corpus callosum morphology	56992	KIF15	ORPHA:261323
HP:0001273	Abnormal corpus callosum morphology	1020	CDK5	OMIM:616342
HP:0001273	Abnormal corpus callosum morphology	23522	KAT6B	OMIM:606170
HP:0001273	Abnormal corpus callosum morphology	23522	KAT6B	ORPHA:85201
HP:0001273	Abnormal corpus callosum morphology	5173	PDYN	OMIM:610245
HP:0001273	Abnormal corpus callosum morphology	55681	SCYL2	OMIM:618766
HP:0001273	Abnormal corpus callosum morphology	3845	KRAS	ORPHA:2396
HP:0001273	Abnormal corpus callosum morphology	3845	KRAS	ORPHA:3339
HP:0001273	Abnormal corpus callosum morphology	2018	EMX2	OMIM:269160
HP:0001273	Abnormal corpus callosum morphology	546	ATRX	ORPHA:847
HP:0001273	Abnormal corpus callosum morphology	7080	NKX2-1	ORPHA:209905
HP:0001273	Abnormal corpus callosum morphology	6597	SMARCA4	OMIM:614609
HP:0001273	Abnormal corpus callosum morphology	6597	SMARCA4	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	9401	RECQL4	OMIM:218600
HP:0001273	Abnormal corpus callosum morphology	4524	MTHFR	ORPHA:563612
HP:0001273	Abnormal corpus callosum morphology	57216	VANGL2	ORPHA:563612
HP:0001273	Abnormal corpus callosum morphology	55697	VAC14	ORPHA:3472
HP:0001273	Abnormal corpus callosum morphology	10815	CPLX1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	10815	CPLX1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	7469	NELFA	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	1487	CTBP1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	1487	CTBP1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	3954	LETM1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	3954	LETM1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	7468	NSD2	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	7468	NSD2	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	22872	SEC31A	OMIM:618651
HP:0001273	Abnormal corpus callosum morphology	55012	PPP2R3C	OMIM:618419
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:93926
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:93924
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	51021	MRPS16	OMIM:610498
HP:0001273	Abnormal corpus callosum morphology	23007	PLCH1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	6602	SMARCD1	OMIM:618779
HP:0001273	Abnormal corpus callosum morphology	6602	SMARCD1	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	55623	THUMPD1	OMIM:619989
HP:0001273	Abnormal corpus callosum morphology	53834	FGFRL1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	2074	ERCC6	OMIM:214150
HP:0001273	Abnormal corpus callosum morphology	3192	HNRNPU	ORPHA:238769
HP:0001273	Abnormal corpus callosum morphology	129563	DIS3L2	OMIM:267000
HP:0001273	Abnormal corpus callosum morphology	1182	CLCN3	OMIM:619512
HP:0001273	Abnormal corpus callosum morphology	23512	SUZ12	OMIM:618786
HP:0001273	Abnormal corpus callosum morphology	6608	SMO	OMIM:601707
HP:0001273	Abnormal corpus callosum morphology	6608	SMO	ORPHA:1553
HP:0001273	Abnormal corpus callosum morphology	3052	HCCS	OMIM:309801
HP:0001273	Abnormal corpus callosum morphology	3052	HCCS	ORPHA:2556
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	OMIM:309801
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	ORPHA:2556
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	OMIM:300952
HP:0001273	Abnormal corpus callosum morphology	5626	PROP1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5626	PROP1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	89884	LHX4	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	89884	LHX4	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8022	LHX3	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5449	POU1F1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5449	POU1F1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	OMIM:182230
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	4519	MT-CYB	ORPHA:137675
HP:0001273	Abnormal corpus callosum morphology	5828	PEX2	OMIM:614866
HP:0001273	Abnormal corpus callosum morphology	5590	PRKCZ	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	2563	GABRD	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	23013	SPEN	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	23013	SPEN	OMIM:619312
HP:0001273	Abnormal corpus callosum morphology	8510	MMP23B	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	7798	LUZP1	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	6497	SKI	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	10630	PDPN	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	3339	HSPG2	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	10277	UBE4B	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	8514	KCNAB2	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	63976	PRDM16	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	54897	CASZ1	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	6558	SLC12A2	OMIM:619083
HP:0001273	Abnormal corpus callosum morphology	4036	LRP2	OMIM:222448
HP:0001273	Abnormal corpus callosum morphology	3170	FOXA2	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:990
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	83479	DDX59	ORPHA:2919
HP:0001273	Abnormal corpus callosum morphology	83479	DDX59	OMIM:174300
HP:0001273	Abnormal corpus callosum morphology	11041	B4GAT1	OMIM:615287
HP:0001273	Abnormal corpus callosum morphology	11041	B4GAT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	8481	OFD1	OMIM:311200
HP:0001273	Abnormal corpus callosum morphology	8481	OFD1	ORPHA:2750
HP:0001273	Abnormal corpus callosum morphology	10472	ZBTB18	OMIM:612337
HP:0001273	Abnormal corpus callosum morphology	2271	FH	OMIM:606812
HP:0001273	Abnormal corpus callosum morphology	57724	EPG5	OMIM:242840
HP:0001273	Abnormal corpus callosum morphology	57724	EPG5	ORPHA:1493
HP:0001273	Abnormal corpus callosum morphology	63895	PIEZO2	OMIM:248700
HP:0001273	Abnormal corpus callosum morphology	63895	PIEZO2	ORPHA:2461
HP:0001273	Abnormal corpus callosum morphology	2239	GPC4	ORPHA:373
HP:0001273	Abnormal corpus callosum morphology	2239	GPC4	OMIM:312870
HP:0001273	Abnormal corpus callosum morphology	2719	GPC3	ORPHA:373
HP:0001273	Abnormal corpus callosum morphology	2719	GPC3	OMIM:312870
HP:0001273	Abnormal corpus callosum morphology	197258	FCSK	OMIM:618324
HP:0001273	Abnormal corpus callosum morphology	10463	SLC30A9	OMIM:617595
HP:0001273	Abnormal corpus callosum morphology	2678	GGT1	OMIM:231950
HP:0001273	Abnormal corpus callosum morphology	64919	BCL11B	OMIM:617237
HP:0001273	Abnormal corpus callosum morphology	11023	VAX1	OMIM:614402
HP:0001273	Abnormal corpus callosum morphology	257	ALX3	OMIM:136760
HP:0001273	Abnormal corpus callosum morphology	51645	PPIL1	OMIM:619301
HP:0001273	Abnormal corpus callosum morphology	51362	CDC40	OMIM:619302
HP:0001273	Abnormal corpus callosum morphology	55280	CWF19L1	ORPHA:453521
HP:0001273	Abnormal corpus callosum morphology	80199	FUZ	ORPHA:1136
HP:0001273	Abnormal corpus callosum morphology	9990	SLC12A6	ORPHA:1496
HP:0001273	Abnormal corpus callosum morphology	9990	SLC12A6	OMIM:218000
HP:0001273	Abnormal corpus callosum morphology	164	AP1G1	OMIM:619548
HP:0001273	Abnormal corpus callosum morphology	1801	DPH1	ORPHA:459061
HP:0001273	Abnormal corpus callosum morphology	5888	RAD51	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	10126	DNAL4	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	9423	NTN1	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	56896	DPYSL5	OMIM:619435
HP:0001273	Abnormal corpus callosum morphology	2879	GPX4	ORPHA:93317
HP:0001273	Abnormal corpus callosum morphology	5396	PRRX1	OMIM:202650
HP:0001273	Abnormal corpus callosum morphology	5396	PRRX1	ORPHA:990
HP:0001273	Abnormal corpus callosum morphology	7545	ZIC1	OMIM:616602
HP:0001273	Abnormal corpus callosum morphology	7545	ZIC1	OMIM:618736
HP:0001273	Abnormal corpus callosum morphology	7473	WNT3	ORPHA:3301
HP:0001273	Abnormal corpus callosum morphology	340419	RSPO2	ORPHA:3301
HP:0001273	Abnormal corpus callosum morphology	1436	CSF1R	OMIM:618476
HP:0001273	Abnormal corpus callosum morphology	23030	KDM4B	OMIM:619320
HP:0001273	Abnormal corpus callosum morphology	1806	DPYD	OMIM:274270
HP:0001273	Abnormal corpus callosum morphology	55215	FANCI	OMIM:609053
HP:0001273	Abnormal corpus callosum morphology	27185	DISC1	ORPHA:171703
HP:0001273	Abnormal corpus callosum morphology	8320	EOMES	ORPHA:171703
HP:0001273	Abnormal corpus callosum morphology	79133	NDUFAF5	OMIM:618238
HP:0001273	Abnormal corpus callosum morphology	55997	CFC1	OMIM:605376
HP:0001273	Abnormal corpus callosum morphology	84892	POMGNT2	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	148789	B3GALNT2	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	1282	COL4A1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	10329	RXYLT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	55624	POMGNT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	55624	POMGNT1	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	63925	ZNF335	OMIM:615095
HP:0001273	Abnormal corpus callosum morphology	2657	GDF1	OMIM:208530
HP:0001273	Abnormal corpus callosum morphology	85358	SHANK3	ORPHA:48652
HP:0001273	Abnormal corpus callosum morphology	6598	SMARCB1	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	6659	SOX4	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	8289	ARID1A	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	5977	DPF2	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	6601	SMARCC2	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	196528	ARID2	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	6664	SOX11	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	5831	PYCR1	OMIM:612940
HP:0001273	Abnormal corpus callosum morphology	1063	CENPF	OMIM:243605
HP:0001273	Abnormal corpus callosum morphology	51608	GET4	OMIM:620200
HP:0001273	Abnormal corpus callosum morphology	1000	CDH2	OMIM:618929
HP:0001273	Abnormal corpus callosum morphology	1583	CYP11A1	ORPHA:289548
HP:0001273	Abnormal corpus callosum morphology	1583	CYP11A1	ORPHA:168558
HP:0001273	Abnormal corpus callosum morphology	2009	EML1	OMIM:600348
HP:0001273	Abnormal corpus callosum morphology	5395	PMS2	OMIM:619101
HP:0001273	Abnormal corpus callosum morphology	2313	FLI1	ORPHA:2308
HP:0001273	Abnormal corpus callosum morphology	60386	SLC25A19	ORPHA:99742
HP:0001273	Abnormal corpus callosum morphology	60	ACTB	OMIM:243310
HP:0001273	Abnormal corpus callosum morphology	64840	PORCN	OMIM:305600
HP:0001273	Abnormal corpus callosum morphology	65250	CPLANE1	OMIM:277170
HP:0001273	Abnormal corpus callosum morphology	71	ACTG1	OMIM:614583
HP:0001273	Abnormal corpus callosum morphology	8092	ALX1	ORPHA:306542
HP:0001273	Abnormal corpus callosum morphology	28962	OSTM1	ORPHA:85179
HP:0001273	Abnormal corpus callosum morphology	57545	CC2D2A	OMIM:619111
HP:0001273	Abnormal corpus callosum morphology	145173	B3GLCT	OMIM:261540
HP:0001273	Abnormal corpus callosum morphology	1387	CREBBP	OMIM:180849
HP:0001273	Abnormal corpus callosum morphology	2033	EP300	OMIM:180849
HP:0001273	Abnormal corpus callosum morphology	9968	MED12	OMIM:309520
HP:0001273	Abnormal corpus callosum morphology	1718	DHCR24	ORPHA:35107
HP:0001273	Abnormal corpus callosum morphology	374879	ZNF699	OMIM:619488
HP:0001273	Abnormal corpus callosum morphology	55640	FLVCR2	OMIM:225790
HP:0001273	Abnormal corpus callosum morphology	91875	TTC5	OMIM:619244
HP:0001273	Abnormal corpus callosum morphology	80210	ARMC9	OMIM:617622
HP:0001273	Abnormal corpus callosum morphology	6299	SALL1	ORPHA:857
HP:0001273	Abnormal corpus callosum morphology	51339	DACT1	ORPHA:857
HP:0001273	Abnormal corpus callosum morphology	113246	C12orf57	OMIM:218340
HP:0001273	Abnormal corpus callosum morphology	1759	DNM1	OMIM:620352
HP:0001273	Abnormal corpus callosum morphology	55691	FRMD4A	ORPHA:466688
HP:0001273	Abnormal corpus callosum morphology	1376	CPT2	OMIM:608836
HP:0001273	Abnormal corpus callosum morphology	1376	CPT2	ORPHA:228308
HP:0001273	Abnormal corpus callosum morphology	652	BMP4	ORPHA:139471
HP:0001273	Abnormal corpus callosum morphology	84823	LMNB2	OMIM:616540
HP:0001273	Abnormal corpus callosum morphology	4781	NFIB	OMIM:618286
HP:0001273	Abnormal corpus callosum morphology	8777	MPDZ	OMIM:615219
HP:0001273	Abnormal corpus callosum morphology	219844	HYLS1	OMIM:236680
HP:0001273	Abnormal corpus callosum morphology	219844	HYLS1	ORPHA:2189
HP:0001273	Abnormal corpus callosum morphology	4292	MLH1	OMIM:276300
HP:0001273	Abnormal corpus callosum morphology	22995	CEP152	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	163786	SASS6	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	4176	MCM7	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	80254	CEP63	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	29081	METTL5	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	23310	NCAPD3	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	55755	CDK5RAP2	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	79648	MCPH1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	7109	TRAPPC10	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1911	PHC1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	6884	TAF13	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	9662	CEP135	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	55835	CENPJ	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	57082	KNL1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1021	CDK6	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	18	ABAT	OMIM:613163
HP:0001273	Abnormal corpus callosum morphology	8449	DHX16	OMIM:618733
HP:0001273	Abnormal corpus callosum morphology	26123	TCTN3	OMIM:614815
HP:0001273	Abnormal corpus callosum morphology	128674	PROKR2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	26275	HIBCH	OMIM:250620
HP:0001273	Abnormal corpus callosum morphology	2615	LRRC32	OMIM:619074
HP:0001273	Abnormal corpus callosum morphology	10128	LRPPRC	OMIM:220111
HP:0001273	Abnormal corpus callosum morphology	10785	WDR4	OMIM:618346
HP:0001273	Abnormal corpus callosum morphology	6938	TCF12	OMIM:615314
HP:0001273	Abnormal corpus callosum morphology	136647	MPLKIP	OMIM:234050
HP:0001273	Abnormal corpus callosum morphology	136647	MPLKIP	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	10733	PLK4	OMIM:616171
HP:0001273	Abnormal corpus callosum morphology	1062	CENPE	OMIM:616051
HP:0001273	Abnormal corpus callosum morphology	4190	MDH1	OMIM:618959
HP:0001273	Abnormal corpus callosum morphology	139285	AMER1	OMIM:300373
HP:0001273	Abnormal corpus callosum morphology	54916	TMEM260	OMIM:617478
HP:0001273	Abnormal corpus callosum morphology	404672	GTF2H5	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2068	ERCC2	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	7737	RNF113A	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	6897	TARS1	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2071	ERCC3	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2961	GTF2E2	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	64432	MRPS25	OMIM:619025
HP:0001273	Abnormal corpus callosum morphology	2137	EXTL3	ORPHA:508533
HP:0001273	Abnormal corpus callosum morphology	7528	YY1	ORPHA:506358
HP:0001273	Abnormal corpus callosum morphology	8036	SHOC2	OMIM:607721
HP:0001273	Abnormal corpus callosum morphology	23394	ADNP	ORPHA:404448
HP:0001273	Abnormal corpus callosum morphology	55703	POLR3B	OMIM:614381
HP:0001273	Abnormal corpus callosum morphology	55703	POLR3B	OMIM:607694
HP:0001273	Abnormal corpus callosum morphology	10617	STAMBP	OMIM:614261
HP:0001273	Abnormal corpus callosum morphology	26235	FBXL4	OMIM:615471
HP:0001273	Abnormal corpus callosum morphology	104	ADARB1	OMIM:618862
HP:0001273	Abnormal corpus callosum morphology	23019	CNOT1	OMIM:618500
HP:0001273	Abnormal corpus callosum morphology	9853	RUSC2	OMIM:617773
HP:0001273	Abnormal corpus callosum morphology	55823	VPS11	OMIM:616683
HP:0001273	Abnormal corpus callosum morphology	55823	VPS11	ORPHA:466934
HP:0001273	Abnormal corpus callosum morphology	343450	KCNT2	OMIM:617771
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	OMIM:615473
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	OMIM:617493
HP:0001273	Abnormal corpus callosum morphology	6873	TAF2	OMIM:615599
HP:0001273	Abnormal corpus callosum morphology	6873	TAF2	ORPHA:397951
HP:0001273	Abnormal corpus callosum morphology	1947	EFNB1	ORPHA:1520
HP:0001273	Abnormal corpus callosum morphology	1947	EFNB1	OMIM:304110
HP:0001273	Abnormal corpus callosum morphology	7360	UGP2	OMIM:618744
HP:0001273	Abnormal corpus callosum morphology	81857	MED25	OMIM:616449
HP:0001273	Abnormal corpus callosum morphology	81857	MED25	ORPHA:464738
HP:0001273	Abnormal corpus callosum morphology	84942	WDR73	OMIM:251300
HP:0001273	Abnormal corpus callosum morphology	10159	ATP6AP2	ORPHA:93952
HP:0001273	Abnormal corpus callosum morphology	10159	ATP6AP2	OMIM:300423
HP:0001273	Abnormal corpus callosum morphology	3190	HNRNPK	ORPHA:453504
HP:0001273	Abnormal corpus callosum morphology	3190	HNRNPK	ORPHA:352665
HP:0001273	Abnormal corpus callosum morphology	116931	MED12L	OMIM:618872
HP:0001273	Abnormal corpus callosum morphology	10300	KATNB1	OMIM:616212
HP:0001273	Abnormal corpus callosum morphology	10300	KATNB1	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	80816	ASXL3	OMIM:615485
HP:0001273	Abnormal corpus callosum morphology	6536	SLC6A9	OMIM:617301
HP:0001273	Abnormal corpus callosum morphology	51741	WWOX	OMIM:616211
HP:0001273	Abnormal corpus callosum morphology	5917	RARS1	ORPHA:438114
HP:0001273	Abnormal corpus callosum morphology	5917	RARS1	OMIM:616140
HP:0001273	Abnormal corpus callosum morphology	27245	AHDC1	ORPHA:412069
HP:0001273	Abnormal corpus callosum morphology	27245	AHDC1	OMIM:615829
HP:0001273	Abnormal corpus callosum morphology	166378	AFG2A	OMIM:616577
HP:0001273	Abnormal corpus callosum morphology	375387	NRROS	OMIM:618875
HP:0001273	Abnormal corpus callosum morphology	5610	EIF2AK2	OMIM:618877
HP:0001273	Abnormal corpus callosum morphology	10381	TUBB3	OMIM:614039
HP:0001273	Abnormal corpus callosum morphology	10381	TUBB3	ORPHA:300570
HP:0001273	Abnormal corpus callosum morphology	10381	TUBB3	OMIM:600638
HP:0001273	Abnormal corpus callosum morphology	284403	WDR62	OMIM:604317
HP:0001273	Abnormal corpus callosum morphology	83696	TRAPPC9	OMIM:613192
HP:0001273	Abnormal corpus callosum morphology	83696	TRAPPC9	ORPHA:352530
HP:0001273	Abnormal corpus callosum morphology	284058	KANSL1	ORPHA:363958
HP:0001273	Abnormal corpus callosum morphology	284058	KANSL1	OMIM:610443
HP:0001273	Abnormal corpus callosum morphology	284058	KANSL1	ORPHA:363965
HP:0001273	Abnormal corpus callosum morphology	347733	TUBB2B	ORPHA:300573
HP:0001273	Abnormal corpus callosum morphology	347733	TUBB2B	OMIM:610031
HP:0001273	Abnormal corpus callosum morphology	7343	UBTF	OMIM:617672
HP:0001273	Abnormal corpus callosum morphology	7343	UBTF	ORPHA:500180
HP:0001273	Abnormal corpus callosum morphology	6844	VAMP2	OMIM:618760
HP:0001273	Abnormal corpus callosum morphology	79029	AFG2B	OMIM:619616
HP:0001273	Abnormal corpus callosum morphology	11232	POLG2	OMIM:618528
HP:0001273	Abnormal corpus callosum morphology	1183	CLCN4	ORPHA:485350
HP:0001273	Abnormal corpus callosum morphology	1183	CLCN4	OMIM:300114
HP:0001273	Abnormal corpus callosum morphology	6872	TAF1	ORPHA:480907
HP:0001273	Abnormal corpus callosum morphology	6872	TAF1	OMIM:300966
HP:0001273	Abnormal corpus callosum morphology	171023	ASXL1	ORPHA:97297
HP:0001273	Abnormal corpus callosum morphology	171023	ASXL1	OMIM:605039
HP:0001273	Abnormal corpus callosum morphology	4763	NF1	ORPHA:363700
HP:0001273	Abnormal corpus callosum morphology	1656	DDX6	OMIM:618653
HP:0001273	Abnormal corpus callosum morphology	25930	PTPN23	OMIM:618890
HP:0001273	Abnormal corpus callosum morphology	23327	NEDD4L	OMIM:617201
HP:0001273	Abnormal corpus callosum morphology	833	CARS1	OMIM:618891
HP:0001273	Abnormal corpus callosum morphology	2903	GRIN2A	ORPHA:289266
HP:0001273	Abnormal corpus callosum morphology	2903	GRIN2A	ORPHA:163721
HP:0001273	Abnormal corpus callosum morphology	54872	PIGG	ORPHA:488635
HP:0001273	Abnormal corpus callosum morphology	54872	PIGG	OMIM:616917
HP:0001273	Abnormal corpus callosum morphology	57178	ZMIZ1	OMIM:618659
HP:0001273	Abnormal corpus callosum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001273	Abnormal corpus callosum morphology	80208	SPG11	ORPHA:2822
HP:0001273	Abnormal corpus callosum morphology	80208	SPG11	OMIM:604360
HP:0001273	Abnormal corpus callosum morphology	80208	SPG11	OMIM:616668
HP:0001273	Abnormal corpus callosum morphology	79731	NARS2	OMIM:616239
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	OMIM:617207
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	OMIM:241410
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	ORPHA:496756
HP:0001273	Abnormal corpus callosum morphology	26040	SETBP1	OMIM:269150
HP:0001273	Abnormal corpus callosum morphology	26040	SETBP1	ORPHA:798
HP:0001273	Abnormal corpus callosum morphology	1499	CTNNB1	ORPHA:404473
HP:0001273	Abnormal corpus callosum morphology	1499	CTNNB1	OMIM:615075
HP:0001273	Abnormal corpus callosum morphology	5518	PPP2R1A	OMIM:616362
HP:0001273	Abnormal corpus callosum morphology	5518	PPP2R1A	ORPHA:457284
HP:0001273	Abnormal corpus callosum morphology	113612	CYP2U1	OMIM:615030
HP:0001273	Abnormal corpus callosum morphology	113612	CYP2U1	ORPHA:320411
HP:0001273	Abnormal corpus callosum morphology	2261	FGFR3	OMIM:616482
HP:0001273	Abnormal corpus callosum morphology	2261	FGFR3	ORPHA:85165
HP:0001273	Abnormal corpus callosum morphology	9895	TECPR2	OMIM:615031
HP:0001273	Abnormal corpus callosum morphology	9895	TECPR2	ORPHA:320385
HP:0001273	Abnormal corpus callosum morphology	10717	AP4B1	OMIM:614066
HP:0001273	Abnormal corpus callosum morphology	10717	AP4B1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	84879	MFSD2A	OMIM:616486
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	OMIM:615035
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	ORPHA:320375
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	ORPHA:254930
HP:0001273	Abnormal corpus callosum morphology	84504	NKX6-2	ORPHA:527497
HP:0001273	Abnormal corpus callosum morphology	23126	POGZ	OMIM:616364
HP:0001273	Abnormal corpus callosum morphology	23126	POGZ	ORPHA:468678
HP:0001273	Abnormal corpus callosum morphology	55773	TBC1D23	OMIM:617695
HP:0001273	Abnormal corpus callosum morphology	8558	CDK10	OMIM:617694
HP:0001273	Abnormal corpus callosum morphology	23259	DDHD2	OMIM:615033
HP:0001273	Abnormal corpus callosum morphology	23259	DDHD2	ORPHA:320380
HP:0001273	Abnormal corpus callosum morphology	51633	OTUD6B	OMIM:617452
HP:0001273	Abnormal corpus callosum morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001273	Abnormal corpus callosum morphology	5048	PAFAH1B1	ORPHA:531
HP:0001273	Abnormal corpus callosum morphology	5048	PAFAH1B1	ORPHA:95232
HP:0001273	Abnormal corpus callosum morphology	7531	YWHAE	ORPHA:217385
HP:0001273	Abnormal corpus callosum morphology	7531	YWHAE	ORPHA:531
HP:0001273	Abnormal corpus callosum morphology	3098	HK1	OMIM:618547
HP:0001273	Abnormal corpus callosum morphology	1859	DYRK1A	ORPHA:464311
HP:0001273	Abnormal corpus callosum morphology	1859	DYRK1A	ORPHA:268261
HP:0001273	Abnormal corpus callosum morphology	85365	ALG2	ORPHA:79326
HP:0001273	Abnormal corpus callosum morphology	26137	ZBTB20	OMIM:259050
HP:0001273	Abnormal corpus callosum morphology	9533	POLR1C	OMIM:616494
HP:0001273	Abnormal corpus callosum morphology	1615	DARS1	OMIM:615281
HP:0001273	Abnormal corpus callosum morphology	3800	KIF5C	OMIM:615282
HP:0001273	Abnormal corpus callosum morphology	253959	RALGAPA1	OMIM:618797
HP:0001273	Abnormal corpus callosum morphology	2232	FDXR	ORPHA:543470
HP:0001273	Abnormal corpus callosum morphology	51098	IFT52	OMIM:617102
HP:0001273	Abnormal corpus callosum morphology	4849	CNOT3	OMIM:618672
HP:0001273	Abnormal corpus callosum morphology	6506	SLC1A2	OMIM:617105
HP:0001273	Abnormal corpus callosum morphology	10297	APC2	OMIM:618677
HP:0001273	Abnormal corpus callosum morphology	25973	PARS2	OMIM:618437
HP:0001273	Abnormal corpus callosum morphology	79971	WLS	OMIM:619648
HP:0001273	Abnormal corpus callosum morphology	2558	GABRA5	OMIM:618559
HP:0001273	Abnormal corpus callosum morphology	7841	MOGS	ORPHA:79330
HP:0001273	Abnormal corpus callosum morphology	7841	MOGS	OMIM:606056
HP:0001273	Abnormal corpus callosum morphology	6925	TCF4	OMIM:610954
HP:0001273	Abnormal corpus callosum morphology	10743	RAI1	ORPHA:1713
HP:0001273	Abnormal corpus callosum morphology	57688	ZSWIM6	OMIM:603671
HP:0001273	Abnormal corpus callosum morphology	4208	MEF2C	ORPHA:228384
HP:0001273	Abnormal corpus callosum morphology	23162	MAPK8IP3	OMIM:618443
HP:0001273	Abnormal corpus callosum morphology	3798	KIF5A	OMIM:617235
HP:0001273	Abnormal corpus callosum morphology	8565	YARS1	OMIM:619418
HP:0001273	Abnormal corpus callosum morphology	51227	PIGP	OMIM:617599
HP:0001273	Abnormal corpus callosum morphology	51227	PIGP	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	3785	KCNQ2	ORPHA:439218
HP:0001273	Abnormal corpus callosum morphology	3785	KCNQ2	OMIM:613720
HP:0001273	Abnormal corpus callosum morphology	23499	MACF1	OMIM:618325
HP:0001273	Abnormal corpus callosum morphology	51062	ATL1	OMIM:182600
HP:0001273	Abnormal corpus callosum morphology	10195	ALG3	ORPHA:79321
HP:0001273	Abnormal corpus callosum morphology	79087	ALG12	ORPHA:79324
HP:0001273	Abnormal corpus callosum morphology	79053	ALG8	ORPHA:79325
HP:0001273	Abnormal corpus callosum morphology	9896	FIG4	OMIM:216340
HP:0001273	Abnormal corpus callosum morphology	3897	L1CAM	OMIM:304100
HP:0001273	Abnormal corpus callosum morphology	8295	TRRAP	OMIM:618454
HP:0001273	Abnormal corpus callosum morphology	9742	IFT140	OMIM:266920
HP:0001273	Abnormal corpus callosum morphology	7040	TGFB1	OMIM:618213
HP:0001273	Abnormal corpus callosum morphology	58497	PRUNE1	OMIM:617481
HP:0001273	Abnormal corpus callosum morphology	8621	CDK13	OMIM:617360
HP:0001273	Abnormal corpus callosum morphology	5881	RAC3	OMIM:618577
HP:0001273	Abnormal corpus callosum morphology	22930	RAB3GAP1	OMIM:619420
HP:0001273	Abnormal corpus callosum morphology	22930	RAB3GAP1	OMIM:600118
HP:0001273	Abnormal corpus callosum morphology	27429	HTRA2	OMIM:617248
HP:0001273	Abnormal corpus callosum morphology	51013	EXOSC1	OMIM:619304
HP:0001273	Abnormal corpus callosum morphology	55770	EXOC2	OMIM:619306
HP:0001273	Abnormal corpus callosum morphology	6792	CDKL5	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	3736	KCNA1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	9091	PIGQ	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	81603	TRIM8	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	ORPHA:208447
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	OMIM:617820
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	OMIM:614254
HP:0001273	Abnormal corpus callosum morphology	79751	SLC25A22	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	150094	SIK1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	8573	CASK	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	23312	DMXL2	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2917	GRM7	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2917	GRM7	OMIM:618922
HP:0001273	Abnormal corpus callosum morphology	170302	ARX	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	11284	PNKP	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	11284	PNKP	OMIM:613402
HP:0001273	Abnormal corpus callosum morphology	6326	SCN2A	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	6324	SCN1B	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	4761	NEUROD2	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	4761	NEUROD2	OMIM:618374
HP:0001273	Abnormal corpus callosum morphology	9361	LONP1	OMIM:600373
HP:0001273	Abnormal corpus callosum morphology	9361	LONP1	ORPHA:79243
HP:0001273	Abnormal corpus callosum morphology	22827	PUF60	ORPHA:508498
HP:0001273	Abnormal corpus callosum morphology	22827	PUF60	ORPHA:508488
HP:0001273	Abnormal corpus callosum morphology	9488	PIGB	OMIM:618580
HP:0001273	Abnormal corpus callosum morphology	3912	LAMB1	OMIM:615191
HP:0001273	Abnormal corpus callosum morphology	84706	GPT2	OMIM:616281
HP:0001273	Abnormal corpus callosum morphology	84706	GPT2	ORPHA:477673
HP:0001273	Abnormal corpus callosum morphology	4558	MT-TF	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4572	MT-TQ	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4512	MT-CO1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4513	MT-CO2	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4514	MT-CO3	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4578	MT-TW	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4540	MT-ND5	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4541	MT-ND6	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4535	MT-ND1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4538	MT-ND4	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4567	MT-TL1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4574	MT-TS1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4575	MT-TS2	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4564	MT-TH	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	79876	UBA5	OMIM:617132
HP:0001273	Abnormal corpus callosum morphology	160418	TMTC3	OMIM:617255
HP:0001273	Abnormal corpus callosum morphology	8506	CNTNAP1	OMIM:616286
HP:0001273	Abnormal corpus callosum morphology	8506	CNTNAP1	OMIM:618186
HP:0001273	Abnormal corpus callosum morphology	2187	FANCB	OMIM:300514
HP:0001273	Abnormal corpus callosum morphology	10765	KDM5B	OMIM:618109
HP:0001273	Abnormal corpus callosum morphology	10564	ARFGEF2	OMIM:608097
HP:0001273	Abnormal corpus callosum morphology	85476	GFM1	OMIM:609060
HP:0001273	Abnormal corpus callosum morphology	51412	ACTL6B	OMIM:618468
HP:0001273	Abnormal corpus callosum morphology	51412	ACTL6B	OMIM:618470
HP:0001273	Abnormal corpus callosum morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001273	Abnormal corpus callosum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001273	Abnormal corpus callosum morphology	2671	GFER	ORPHA:330054
HP:0001273	Abnormal corpus callosum morphology	1605	DAG1	ORPHA:370997
HP:0001273	Abnormal corpus callosum morphology	1605	DAG1	OMIM:616538
HP:0001273	Abnormal corpus callosum morphology	11160	ERLIN2	ORPHA:209951
HP:0001273	Abnormal corpus callosum morphology	11160	ERLIN2	OMIM:611225
HP:0001273	Abnormal corpus callosum morphology	56945	MRPS22	OMIM:611719
HP:0001273	Abnormal corpus callosum morphology	128869	PIGU	OMIM:618590
HP:0001273	Abnormal corpus callosum morphology	5631	PRPS1	ORPHA:423479
HP:0001273	Abnormal corpus callosum morphology	7707	ZNF148	OMIM:617260
HP:0001273	Abnormal corpus callosum morphology	2972	BRF1	ORPHA:444072
HP:0001273	Abnormal corpus callosum morphology	1349	COX7B	OMIM:300887
HP:0001273	Abnormal corpus callosum morphology	5515	PPP2CA	OMIM:618354
HP:0001273	Abnormal corpus callosum morphology	55610	VPS50	OMIM:619685
HP:0001273	Abnormal corpus callosum morphology	4695	NDUFA2	OMIM:618235
HP:0001273	Abnormal corpus callosum morphology	5649	RELN	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	54820	NDE1	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	55262	TRAPPC14	OMIM:618351
HP:0001273	Abnormal corpus callosum morphology	1654	DDX3X	ORPHA:457260
HP:0001273	Abnormal corpus callosum morphology	1654	DDX3X	OMIM:300958
HP:0001273	Abnormal corpus callosum morphology	5660	PSAP	OMIM:611721
HP:0001273	Abnormal corpus callosum morphology	26128	KIFBP	ORPHA:66629
HP:0001273	Abnormal corpus callosum morphology	26128	KIFBP	OMIM:609460
HP:0001273	Abnormal corpus callosum morphology	154881	KCTD7	OMIM:611726
HP:0001273	Abnormal corpus callosum morphology	9179	AP4M1	OMIM:612936
HP:0001273	Abnormal corpus callosum morphology	9179	AP4M1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	ORPHA:370968
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	OMIM:613156
HP:0001273	Abnormal corpus callosum morphology	9215	LARGE1	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	9215	LARGE1	ORPHA:370968
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	ORPHA:370968
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	ORPHA:370968
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	OMIM:613155
HP:0001273	Abnormal corpus callosum morphology	2218	FKTN	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	6904	TBCD	ORPHA:496641
HP:0001273	Abnormal corpus callosum morphology	6904	TBCD	OMIM:617193
HP:0001273	Abnormal corpus callosum morphology	29925	GMPPB	ORPHA:370968
HP:0001273	Abnormal corpus callosum morphology	7337	UBE3A	ORPHA:98794
HP:0001273	Abnormal corpus callosum morphology	4948	OCA2	ORPHA:98794
HP:0001273	Abnormal corpus callosum morphology	473	RERE	ORPHA:494344
HP:0001273	Abnormal corpus callosum morphology	473	RERE	OMIM:616975
HP:0001273	Abnormal corpus callosum morphology	4784	NFIX	OMIM:602535
HP:0001273	Abnormal corpus callosum morphology	4784	NFIX	ORPHA:420179
HP:0001273	Abnormal corpus callosum morphology	4784	NFIX	OMIM:614753
HP:0001273	Abnormal corpus callosum morphology	84340	GFM2	ORPHA:565624
HP:0001273	Abnormal corpus callosum morphology	22796	COG2	OMIM:617395
HP:0001273	Abnormal corpus callosum morphology	22796	COG2	ORPHA:435934
HP:0001273	Abnormal corpus callosum morphology	2560	GABRB1	OMIM:617153
HP:0001273	Abnormal corpus callosum morphology	10588	MTHFS	OMIM:618367
HP:0001273	Abnormal corpus callosum morphology	23221	RHOBTB2	OMIM:618004
HP:0001273	Abnormal corpus callosum morphology	8120	AP3B2	OMIM:617276
HP:0001273	Abnormal corpus callosum morphology	7965	AIMP2	OMIM:618006
HP:0001273	Abnormal corpus callosum morphology	201163	FLCN	OMIM:610883
HP:0001273	Abnormal corpus callosum morphology	29920	PYCR2	ORPHA:481152
HP:0001273	Abnormal corpus callosum morphology	29920	PYCR2	OMIM:616420
HP:0001273	Abnormal corpus callosum morphology	7703	PCGF2	OMIM:618371
HP:0001273	Abnormal corpus callosum morphology	1781	DYNC1I2	OMIM:618492
HP:0001273	Abnormal corpus callosum morphology	29968	PSAT1	ORPHA:284417
HP:0001273	Abnormal corpus callosum morphology	191	AHCY	ORPHA:88618
HP:0001273	Abnormal corpus callosum morphology	51324	SPG21	ORPHA:101001
HP:0001273	Abnormal corpus callosum morphology	7161	TP73	OMIM:619466
HP:0001273	Abnormal corpus callosum morphology	11342	RNF13	OMIM:618379
HP:0001273	Abnormal corpus callosum morphology	11342	RNF13	ORPHA:544503
HP:0001273	Abnormal corpus callosum morphology	9758	FRMPD4	OMIM:300983
HP:0001273	Abnormal corpus callosum morphology	5277	PIGA	OMIM:300868
HP:0001273	Abnormal corpus callosum morphology	1822	ATN1	OMIM:618494
HP:0001273	Abnormal corpus callosum morphology	523	ATP6V1A	OMIM:618012
HP:0001273	Abnormal corpus callosum morphology	523	ATP6V1A	OMIM:617403
HP:0001273	Abnormal corpus callosum morphology	4990	SIX6	OMIM:206900
HP:0001273	Abnormal corpus callosum morphology	6657	SOX2	OMIM:206900
HP:0001273	Abnormal corpus callosum morphology	8883	NAE1	OMIM:620210
HP:0001273	Abnormal corpus callosum morphology	80185	TTI2	ORPHA:391307
HP:0001273	Abnormal corpus callosum morphology	50801	KCNK4	OMIM:618381
HP:0001273	Abnormal corpus callosum morphology	11340	EXOSC8	OMIM:616081
HP:0001273	Abnormal corpus callosum morphology	84265	POLR3GL	OMIM:619234
HP:0001273	Abnormal corpus callosum morphology	9851	KIAA0753	OMIM:619479
HP:0001273	Abnormal corpus callosum morphology	2892	GRIA3	ORPHA:364028
HP:0001273	Abnormal corpus callosum morphology	348180	CTU2	OMIM:618142
HP:0001273	Abnormal corpus callosum morphology	26005	C2CD3	ORPHA:434179
HP:0001273	Abnormal corpus callosum morphology	26005	C2CD3	OMIM:615948
HP:0001273	Abnormal corpus callosum morphology	57514	ARHGAP31	OMIM:100300
HP:0001273	Abnormal corpus callosum morphology	51360	MBTPS2	OMIM:308205
HP:0001273	Abnormal corpus callosum morphology	2571	GAD1	OMIM:619124
HP:0001273	Abnormal corpus callosum morphology	2222	FDFT1	OMIM:618156
HP:0001273	Abnormal corpus callosum morphology	203068	TUBB	OMIM:156610
HP:0001273	Abnormal corpus callosum morphology	285590	SH3PXD2B	OMIM:249420
HP:0001273	Abnormal corpus callosum morphology	90522	YIF1B	OMIM:619125
HP:0001273	Abnormal corpus callosum morphology	374354	NHLRC2	OMIM:618278
HP:0001273	Abnormal corpus callosum morphology	8239	USP9X	OMIM:300968
HP:0001273	Abnormal corpus callosum morphology	8239	USP9X	ORPHA:480880
HP:0001273	Abnormal corpus callosum morphology	9326	ZNHIT3	OMIM:260565
HP:0001273	Abnormal corpus callosum morphology	6472	SHMT2	OMIM:619121
HP:0001273	Abnormal corpus callosum morphology	29123	ANKRD11	ORPHA:261250
HP:0001273	Abnormal corpus callosum morphology	79152	FA2H	ORPHA:171629
HP:0001273	Abnormal corpus callosum morphology	79152	FA2H	ORPHA:329308
HP:0001273	Abnormal corpus callosum morphology	79152	FA2H	OMIM:612319
HP:0001273	Abnormal corpus callosum morphology	9373	PLAA	ORPHA:521426
HP:0001273	Abnormal corpus callosum morphology	9373	PLAA	OMIM:617527
HP:0001273	Abnormal corpus callosum morphology	118924	FRA10AC1	OMIM:620113
HP:0001273	Abnormal corpus callosum morphology	8911	CACNA1I	OMIM:620114
HP:0001273	Abnormal corpus callosum morphology	93587	TRMT10A	ORPHA:391408
HP:0001273	Abnormal corpus callosum morphology	84919	PPP1R15B	ORPHA:391408
HP:0001273	Abnormal corpus callosum morphology	84919	PPP1R15B	OMIM:616817
HP:0001273	Abnormal corpus callosum morphology	3090	HIC1	ORPHA:531
HP:0001273	Abnormal corpus callosum morphology	6748	SSR4	ORPHA:370927
HP:0001273	Abnormal corpus callosum morphology	6748	SSR4	OMIM:300934
HP:0001273	Abnormal corpus callosum morphology	2177	FANCD2	OMIM:227646
HP:0001273	Abnormal corpus callosum morphology	2629	GBA1	ORPHA:2072
HP:0001273	Abnormal corpus callosum morphology	340533	NEXMIF	ORPHA:85277
HP:0001273	Abnormal corpus callosum morphology	89970	RSPRY1	ORPHA:457395
HP:0001273	Abnormal corpus callosum morphology	54187	NANS	OMIM:610442
HP:0001273	Abnormal corpus callosum morphology	55005	RMND1	OMIM:614922
HP:0001273	Abnormal corpus callosum morphology	3295	HSD17B4	OMIM:261515
HP:0001273	Abnormal corpus callosum morphology	84153	RNASEH2C	OMIM:610329
HP:0001273	Abnormal corpus callosum morphology	84153	RNASEH2C	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	10079	ATP9A	OMIM:620242
HP:0001273	Abnormal corpus callosum morphology	23299	BICD2	OMIM:618291
HP:0001273	Abnormal corpus callosum morphology	64802	NMNAT1	OMIM:619260
HP:0001273	Abnormal corpus callosum morphology	129285	PPP1R21	OMIM:619383
HP:0001273	Abnormal corpus callosum morphology	114034	TOE1	ORPHA:284339
HP:0001273	Abnormal corpus callosum morphology	114034	TOE1	OMIM:614969
HP:0001273	Abnormal corpus callosum morphology	9562	MINPP1	ORPHA:284339
HP:0001273	Abnormal corpus callosum morphology	2316	FLNA	ORPHA:555877
HP:0001273	Abnormal corpus callosum morphology	2316	FLNA	OMIM:300049
HP:0001273	Abnormal corpus callosum morphology	84842	HPDL	OMIM:619026
HP:0001273	Abnormal corpus callosum morphology	1496	CTNNA2	OMIM:618174
HP:0001273	Abnormal corpus callosum morphology	221927	BRAT1	OMIM:618056
HP:0001273	Abnormal corpus callosum morphology	27445	PCLO	OMIM:608027
HP:0001273	Abnormal corpus callosum morphology	3480	IGF1R	OMIM:270450
HP:0001273	Abnormal corpus callosum morphology	374654	KIF7	ORPHA:166024
HP:0001273	Abnormal corpus callosum morphology	374654	KIF7	OMIM:607131
HP:0001273	Abnormal corpus callosum morphology	10682	EBP	ORPHA:401973
HP:0001273	Abnormal corpus callosum morphology	6095	RORA	OMIM:618060
HP:0001273	Abnormal corpus callosum morphology	11113	CIT	OMIM:617090
HP:0001273	Abnormal corpus callosum morphology	8450	CUL4B	OMIM:300354
HP:0001273	Abnormal corpus callosum morphology	9131	AIFM1	OMIM:300232
HP:0001273	Abnormal corpus callosum morphology	9131	AIFM1	ORPHA:83629
HP:0001273	Abnormal corpus callosum morphology	6535	SLC6A8	OMIM:300352
HP:0001273	Abnormal corpus callosum morphology	7355	SLC35A2	ORPHA:356961
HP:0001273	Abnormal corpus callosum morphology	7355	SLC35A2	OMIM:300896
HP:0001273	Abnormal corpus callosum morphology	347734	SLC35B2	OMIM:620269
HP:0001273	Abnormal corpus callosum morphology	781	CACNA2D1	OMIM:620149
HP:0001273	Abnormal corpus callosum morphology	4774	NFIA	OMIM:613735
HP:0001273	Abnormal corpus callosum morphology	8496	PPFIBP1	OMIM:620024
HP:0001273	Abnormal corpus callosum morphology	132158	GLYCTK	ORPHA:941
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	OMIM:235730
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	ORPHA:261552
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	ORPHA:261537
HP:0001273	Abnormal corpus callosum morphology	57176	VARS2	OMIM:615917
HP:0001273	Abnormal corpus callosum morphology	80222	TARS2	OMIM:615918
HP:0001273	Abnormal corpus callosum morphology	54209	TREM2	OMIM:618193
HP:0001273	Abnormal corpus callosum morphology	200205	IBA57	ORPHA:468661
HP:0001273	Abnormal corpus callosum morphology	200205	IBA57	OMIM:615330
HP:0001273	Abnormal corpus callosum morphology	80232	WDR26	ORPHA:513456
HP:0001273	Abnormal corpus callosum morphology	80232	WDR26	OMIM:617616
HP:0001273	Abnormal corpus callosum morphology	89910	UBE3B	OMIM:244450
HP:0001273	Abnormal corpus callosum morphology	80055	PGAP1	OMIM:615802
HP:0001273	Abnormal corpus callosum morphology	9915	ARNT2	OMIM:615926
HP:0001273	Abnormal corpus callosum morphology	29072	SETD2	OMIM:620157
HP:0001273	Abnormal corpus callosum morphology	29072	SETD2	OMIM:620155
HP:0001273	Abnormal corpus callosum morphology	57582	KCNT1	OMIM:614959
HP:0001273	Abnormal corpus callosum morphology	55780	ERMARD	ORPHA:75857
HP:0001273	Abnormal corpus callosum morphology	10978	CLP1	OMIM:615803
HP:0001273	Abnormal corpus callosum morphology	26153	KIF26A	OMIM:620156
HP:0001273	Abnormal corpus callosum morphology	271	AMPD2	OMIM:615809
HP:0001273	Abnormal corpus callosum morphology	271	AMPD2	OMIM:615686
HP:0001273	Abnormal corpus callosum morphology	25839	COG4	ORPHA:263501
HP:0001273	Abnormal corpus callosum morphology	25839	COG4	OMIM:613489
HP:0001273	Abnormal corpus callosum morphology	57492	ARID1B	OMIM:135900
HP:0001273	Abnormal corpus callosum morphology	5119	CHMP1A	OMIM:614961
HP:0001273	Abnormal corpus callosum morphology	55157	DARS2	ORPHA:137898
HP:0001273	Abnormal corpus callosum morphology	10000	AKT3	OMIM:615937
HP:0001273	Abnormal corpus callosum morphology	501	ALDH7A1	ORPHA:3006
HP:0001273	Abnormal corpus callosum morphology	11212	PLPBP	ORPHA:3006
HP:0001273	Abnormal corpus callosum morphology	1717	DHCR7	OMIM:270400
HP:0001273	Abnormal corpus callosum morphology	23116	TOGARAM1	OMIM:619185
HP:0001273	Abnormal corpus callosum morphology	57531	HACE1	ORPHA:464282
HP:0001273	Abnormal corpus callosum morphology	57531	HACE1	OMIM:616756
HP:0001273	Abnormal corpus callosum morphology	23400	ATP13A2	ORPHA:513436
HP:0001273	Abnormal corpus callosum morphology	80856	LNPK	OMIM:618090
HP:0001273	Abnormal corpus callosum morphology	26278	SACS	ORPHA:98
HP:0001273	Abnormal corpus callosum morphology	1641	DCX	ORPHA:2148
HP:0001273	Abnormal corpus callosum morphology	4338	MOCS2	OMIM:252160
HP:0001273	Abnormal corpus callosum morphology	2752	GLUL	OMIM:610015
HP:0001273	Abnormal corpus callosum morphology	9907	AP5Z1	OMIM:613647
HP:0001273	Abnormal corpus callosum morphology	9907	AP5Z1	ORPHA:306511
HP:0001273	Abnormal corpus callosum morphology	54496	PRMT7	ORPHA:464288
HP:0001273	Abnormal corpus callosum morphology	23265	EXOC7	OMIM:619072
HP:0001273	Abnormal corpus callosum morphology	9653	HS2ST1	OMIM:619194
HP:0001273	Abnormal corpus callosum morphology	1798	DPAGT1	ORPHA:86309
HP:0001273	Abnormal corpus callosum morphology	7025	NR2F1	ORPHA:401777
HP:0001273	Abnormal corpus callosum morphology	1267	CNP	OMIM:619071
HP:0001273	Abnormal corpus callosum morphology	149371	EXOC8	OMIM:619076
HP:0001273	Abnormal corpus callosum morphology	57498	KIDINS220	ORPHA:521390
HP:0001273	Abnormal corpus callosum morphology	56006	SMG9	OMIM:616920
HP:0001273	Abnormal corpus callosum morphology	27286	SRPX2	ORPHA:163721
HP:0001273	Abnormal corpus callosum morphology	285175	UNC80	OMIM:616801
HP:0001273	Abnormal corpus callosum morphology	285175	UNC80	ORPHA:371364
HP:0001273	Abnormal corpus callosum morphology	79753	SNIP1	OMIM:614501
HP:0001273	Abnormal corpus callosum morphology	54499	TMCO1	OMIM:213980
HP:0001273	Abnormal corpus callosum morphology	54499	TMCO1	ORPHA:1394
HP:0001273	Abnormal corpus callosum morphology	11128	POLR3A	ORPHA:447896
HP:0001273	Abnormal corpus callosum morphology	11128	POLR3A	OMIM:607694
HP:0001273	Abnormal corpus callosum morphology	10236	HNRNPR	OMIM:620073
HP:0001273	Abnormal corpus callosum morphology	23503	ZFYVE26	OMIM:270700
HP:0001273	Abnormal corpus callosum morphology	23503	ZFYVE26	ORPHA:100996
HP:0001273	Abnormal corpus callosum morphology	79813	EHMT1	ORPHA:261652
HP:0001273	Abnormal corpus callosum morphology	58508	KMT2C	ORPHA:261652
HP:0001273	Abnormal corpus callosum morphology	4094	MAF	ORPHA:1272
HP:0001273	Abnormal corpus callosum morphology	5591	PRKDC	OMIM:615966
HP:0001273	Abnormal corpus callosum morphology	6605	SMARCE1	OMIM:616938
HP:0001273	Abnormal corpus callosum morphology	51244	CCDC174	OMIM:616816
HP:0001273	Abnormal corpus callosum morphology	51322	WAC	ORPHA:284169
HP:0001273	Abnormal corpus callosum morphology	51322	WAC	OMIM:616708
HP:0001273	Abnormal corpus callosum morphology	4677	NARS1	OMIM:619091
HP:0001273	Abnormal corpus callosum morphology	10735	STAG2	ORPHA:521258
HP:0001273	Abnormal corpus callosum morphology	729920	CRPPA	OMIM:614643
HP:0001273	Abnormal corpus callosum morphology	55275	VPS53	OMIM:615851
HP:0001273	Abnormal corpus callosum morphology	80184	CEP290	OMIM:611134
HP:0001273	Abnormal corpus callosum morphology	9928	KIF14	OMIM:617914
HP:0001273	Abnormal corpus callosum morphology	57704	GBA2	OMIM:614409
HP:0001273	Abnormal corpus callosum morphology	200403	VWA3B	OMIM:616948
HP:0001273	Abnormal corpus callosum morphology	85021	REPS1	OMIM:617916
HP:0001273	Abnormal corpus callosum morphology	85440	DOCK7	OMIM:615859
HP:0001273	Abnormal corpus callosum morphology	85440	DOCK7	ORPHA:411986
HP:0001273	Abnormal corpus callosum morphology	6509	SLC1A4	ORPHA:447997
HP:0001273	Abnormal corpus callosum morphology	6509	SLC1A4	OMIM:616657
HP:0001273	Abnormal corpus callosum morphology	9276	COPB2	OMIM:617800
HP:0001273	Abnormal corpus callosum morphology	7407	VARS1	OMIM:617802
HP:0001273	Abnormal corpus callosum morphology	57165	GJC2	OMIM:613206
HP:0001273	Abnormal corpus callosum morphology	10535	RNASEH2A	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	25939	SAMHD1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	79621	RNASEH2B	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	103	ADAR	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	11277	TREX1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	100147744	RNU7-1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	134353	LSM11	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	64135	IFIH1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	7490	WT1	OMIM:106210
HP:0001273	Abnormal corpus callosum morphology	5080	PAX6	OMIM:106210
HP:0001273	Abnormal corpus callosum morphology	10075	HUWE1	OMIM:309590
HP:0001273	Abnormal corpus callosum morphology	91949	COG7	OMIM:608779
HP:0001273	Abnormal corpus callosum morphology	8243	SMC1A	OMIM:301044
HP:0001273	Abnormal corpus callosum morphology	60529	ALX4	OMIM:613451
HP:0001273	Abnormal corpus callosum morphology	124997	WDR81	OMIM:610185
HP:0001273	Abnormal corpus callosum morphology	2290	FOXG1	OMIM:613454
HP:0001273	Abnormal corpus callosum morphology	79848	CSPP1	OMIM:615636
HP:0001273	Abnormal corpus callosum morphology	65062	TMEM237	OMIM:614424
HP:0001273	Abnormal corpus callosum morphology	23028	KDM1A	OMIM:616728
HP:0001273	Abnormal corpus callosum morphology	23028	KDM1A	ORPHA:477993
HP:0001273	Abnormal corpus callosum morphology	6328	SCN3A	OMIM:617938
HP:0001273	Abnormal corpus callosum morphology	8050	PDHX	ORPHA:255182
HP:0001273	Abnormal corpus callosum morphology	55593	OTUD5	OMIM:301056
HP:0001273	Abnormal corpus callosum morphology	6658	SOX3	ORPHA:67045
HP:0001273	Abnormal corpus callosum morphology	79587	CARS2	ORPHA:477774
HP:0001273	Abnormal corpus callosum morphology	79587	CARS2	OMIM:616672
HP:0001273	Abnormal corpus callosum morphology	5859	QARS1	OMIM:615760
HP:0001273	Abnormal corpus callosum morphology	113179	ADAT3	ORPHA:363528
HP:0001273	Abnormal corpus callosum morphology	80347	COASY	OMIM:615643
HP:0001273	Abnormal corpus callosum morphology	23291	FBXW11	OMIM:618914
HP:0001273	Abnormal corpus callosum morphology	7280	TUBB2A	OMIM:615763
HP:0001273	Abnormal corpus callosum morphology	998	CDC42	OMIM:616737
HP:0001273	Abnormal corpus callosum morphology	998	CDC42	ORPHA:487796
HP:0001273	Abnormal corpus callosum morphology	50	ACO2	OMIM:614559
HP:0001273	Abnormal corpus callosum morphology	3097	HIVEP2	OMIM:616977
HP:0001273	Abnormal corpus callosum morphology	10982	MAPRE2	OMIM:616734
HP:0001273	Abnormal corpus callosum morphology	51218	GLRX5	OMIM:616859
HP:0001273	Abnormal corpus callosum morphology	5053	PAH	ORPHA:2209
HP:0001273	Abnormal corpus callosum morphology	4131	MAP1B	OMIM:618918
HP:0001273	Abnormal corpus callosum morphology	5925	RB1	ORPHA:1587
HP:0001273	Abnormal corpus callosum morphology	23511	NUP188	OMIM:618804
HP:0001273	Abnormal corpus callosum morphology	6709	SPTAN1	OMIM:613477
HP:0001273	Abnormal corpus callosum morphology	1778	DYNC1H1	OMIM:614563
HP:0001273	Abnormal corpus callosum morphology	3796	KIF2A	OMIM:615411
HP:0001273	Abnormal corpus callosum morphology	2058	EPRS1	OMIM:617951
HP:0001273	Abnormal corpus callosum morphology	27315	PGAP2	OMIM:614207
HP:0001273	Abnormal corpus callosum morphology	5160	PDHA1	ORPHA:79243
HP:0001273	Abnormal corpus callosum morphology	5147	PDE6D	OMIM:615665
HP:0001273	Abnormal corpus callosum morphology	57511	COG6	OMIM:614576
HP:0001273	Abnormal corpus callosum morphology	2260	FGFR1	OMIM:613001
HP:0001273	Abnormal corpus callosum morphology	23065	EMC1	OMIM:616875
HP:0001273	Abnormal corpus callosum morphology	54664	TMEM106B	OMIM:617964
HP:0001273	Abnormal corpus callosum morphology	128637	TBC1D20	OMIM:615663
HP:0001273	Abnormal corpus callosum morphology	1729	DIAPH1	OMIM:616632
HP:0001273	Abnormal corpus callosum morphology	2475	MTOR	OMIM:616638
HP:0001273	Abnormal corpus callosum morphology	9419	CRIPT	OMIM:615789
HP:0001273	Abnormal corpus callosum morphology	26227	PHGDH	ORPHA:79351
HP:0001273	Abnormal corpus callosum morphology	55644	OSGEP	OMIM:617729
HP:0001273	Abnormal corpus callosum morphology	7874	USP7	ORPHA:500055
HP:0001273	Abnormal corpus callosum morphology	340075	ARSI	ORPHA:401815
HP:0001273	Abnormal corpus callosum morphology	6812	STXBP1	OMIM:612164
HP:0001273	Abnormal corpus callosum morphology	25782	RAB3GAP2	OMIM:614225
HP:0001273	Abnormal corpus callosum morphology	22931	RAB18	OMIM:614222
HP:0001273	Abnormal corpus callosum morphology	4337	MOCS1	OMIM:252150
HP:0001273	Abnormal corpus callosum morphology	29957	SLC25A24	OMIM:612289
HP:0001273	Abnormal corpus callosum morphology	4329	ALDH6A1	OMIM:614105
HP:0001273	Abnormal corpus callosum morphology	56270	WDR45B	OMIM:617977
HP:0001273	Abnormal corpus callosum morphology	259232	NALCN	ORPHA:371364
HP:0001273	Abnormal corpus callosum morphology	23556	PIGN	ORPHA:280633
HP:0001273	Abnormal corpus callosum morphology	54880	BCOR	OMIM:300166
HP:0001273	Abnormal corpus callosum morphology	5162	PDHB	ORPHA:255138
HP:0001273	Abnormal corpus callosum morphology	122553	TRAPPC6B	OMIM:617862
HP:0001273	Abnormal corpus callosum morphology	51124	IER3IP1	OMIM:614231
HP:0001273	Abnormal corpus callosum morphology	2893	GRIA4	OMIM:617864
HP:0001273	Abnormal corpus callosum morphology	55704	CCDC88A	OMIM:617507
HP:0001273	Abnormal corpus callosum morphology	54676	GTPBP2	OMIM:617988
HP:0001273	Abnormal corpus callosum morphology	5296	PIK3R2	OMIM:603387
HP:0001273	Abnormal corpus callosum morphology	259266	ASPM	OMIM:608716
HP:0001273	Abnormal corpus callosum morphology	11154	AP4S1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	23431	AP4E1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	4047	LSS	OMIM:618840
HP:0001273	Abnormal corpus callosum morphology	5879	RAC1	OMIM:617751
HP:0001273	Abnormal corpus callosum morphology	5879	RAC1	ORPHA:500159
HP:0001273	Abnormal corpus callosum morphology	440	ASNS	OMIM:615574
HP:0001273	Abnormal corpus callosum morphology	5455	POU3F3	OMIM:618604
HP:0001273	Abnormal corpus callosum morphology	133686	NADK2	ORPHA:431361
HP:0001273	Abnormal corpus callosum morphology	738	VPS51	OMIM:618606
HP:0001273	Abnormal corpus callosum morphology	5116	PCNT	ORPHA:2637
HP:0001273	Abnormal corpus callosum morphology	2806	GOT2	OMIM:618721
HP:0001273	Abnormal corpus callosum morphology	5430	POLR2A	OMIM:618603
HP:0001273	Abnormal corpus callosum morphology	51663	ZFR	ORPHA:401840
HP:0001273	Abnormal corpus callosum morphology	1468	SLC25A10	OMIM:618972
HP:0001273	Abnormal corpus callosum morphology	1968	EIF2S3	OMIM:300148
HP:0001273	Abnormal corpus callosum morphology	5307	PITX1	OMIM:119800
HP:0001273	Abnormal corpus callosum morphology	51075	TMX2	OMIM:618730
HP:0001273	Abnormal corpus callosum morphology	8884	SLC5A6	OMIM:618973
HP:0001273	Abnormal corpus callosum morphology	7305	TYROBP	OMIM:221770
HP:0001273	Abnormal corpus callosum morphology	55331	ACER3	OMIM:617762
HP:0001273	Abnormal corpus callosum morphology	153241	CEP120	OMIM:617761
HP:0001273	Abnormal corpus callosum morphology	4281	MID1	ORPHA:2745
HP:0001273	Abnormal corpus callosum morphology	10844	TUBGCP2	OMIM:618737
HP:0001273	Abnormal corpus callosum morphology	4858	NOVA2	OMIM:618859
HP:0001273	Abnormal corpus callosum morphology	84148	KAT8	OMIM:618974
HP:0001273	Abnormal corpus callosum morphology	55753	OGDHL	OMIM:619701
HP:0001273	Abnormal corpus callosum morphology	58499	ZNF462	OMIM:618619
HP:0001273	Abnormal corpus callosum morphology	701	BUB1B	OMIM:257300
HP:0001273	Abnormal corpus callosum morphology	7846	TUBA1A	ORPHA:171680
HP:0001273	Abnormal corpus callosum morphology	4841	NONO	ORPHA:466791
HP:0001273	Abnormal corpus callosum morphology	4841	NONO	OMIM:300967
HP:0001273	Abnormal corpus callosum morphology	9791	PTDSS1	OMIM:151050
HP:0001273	Abnormal corpus callosum morphology	29899	GPSM2	OMIM:604213
HP:0001273	Abnormal corpus callosum morphology	4001	LMNB1	OMIM:619179
HP:0001273	Abnormal corpus callosum morphology	6651	SON	ORPHA:500150
HP:0001273	Abnormal corpus callosum morphology	6651	SON	OMIM:617140
HP:0001273	Abnormal corpus callosum morphology	9692	PRORP	OMIM:619737
HP:0001273	Abnormal corpus callosum morphology	4659	PPP1R12A	OMIM:618820
HP:0001273	Abnormal corpus callosum morphology	51807	TUBA8	ORPHA:250972
HP:0001273	Abnormal corpus callosum morphology	93627	TBCK	OMIM:616900
HP:0001273	Abnormal corpus callosum morphology	5361	PLXNA1	OMIM:619955
HP:0001273	Abnormal corpus callosum morphology	374969	SVBP	OMIM:618569
HP:0001273	Abnormal corpus callosum morphology	84081	NSRP1	OMIM:620001
HP:0001273	Abnormal corpus callosum morphology	124454	EARS2	OMIM:614924
HP:0001273	Abnormal corpus callosum morphology	83480	PUS3	ORPHA:488627
HP:0001273	Abnormal corpus callosum morphology	5286	PIK3C2A	ORPHA:557003
HP:0001273	Abnormal corpus callosum morphology	91647	ATPAF2	OMIM:604273
HP:0001273	Abnormal corpus callosum morphology	57192	MCOLN1	OMIM:252650
HP:0001273	Abnormal corpus callosum morphology	9786	KIAA0586	OMIM:616490
HP:0001273	Abnormal corpus callosum morphology	79228	THOC6	ORPHA:363444
HP:0001273	Abnormal corpus callosum morphology	23258	DENND5A	OMIM:617281
HP:0001273	Abnormal corpus callosum morphology	23309	SIN3B	ORPHA:500166
HP:0001273	Abnormal corpus callosum morphology	25942	SIN3A	ORPHA:500166
HP:0001273	Abnormal corpus callosum morphology	25942	SIN3A	OMIM:613406
HP:0001273	Abnormal corpus callosum morphology	10524	KAT5	OMIM:619103
HP:0001273	Abnormal corpus callosum morphology	205327	C2orf69	OMIM:619423
HP:0001273	Abnormal corpus callosum morphology	22978	NT5C2	OMIM:613162
HP:0001273	Abnormal corpus callosum morphology	5283	PIGH	OMIM:618010
HP:0001273	Abnormal corpus callosum morphology	23287	AGTPBP1	OMIM:618276
HP:0001273	Abnormal corpus callosum morphology	3313	HSPA9	OMIM:616854
HP:0001273	Abnormal corpus callosum morphology	283989	TSEN54	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	116461	TSEN15	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	79042	TSEN34	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	80746	TSEN2	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	51091	SEPSECS	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	4953	ODC1	ORPHA:544488
HP:0001273	Abnormal corpus callosum morphology	25914	RTTN	OMIM:614833
HP:0001273	Abnormal corpus callosum morphology	55210	ATAD3A	OMIM:618810
HP:0001273	Abnormal corpus callosum morphology	1642	DDB1	OMIM:619426
HP:0001273	Abnormal corpus callosum morphology	79633	FAT4	ORPHA:314679
HP:0001273	Abnormal corpus callosum morphology	8642	DCHS1	ORPHA:314679
HP:0001273	Abnormal corpus callosum morphology	4713	NDUFB7	OMIM:620135
HP:0001273	Abnormal corpus callosum morphology	8925	HERC1	ORPHA:457359
HP:0001273	Abnormal corpus callosum morphology	8925	HERC1	OMIM:617011
HP:0001273	Abnormal corpus callosum morphology	51256	TBC1D7	OMIM:248000
HP:0001273	Abnormal corpus callosum morphology	22983	MAST1	OMIM:618273
HP:0001273	Abnormal corpus callosum morphology	51780	KDM3B	OMIM:618846
HP:0001273	Abnormal corpus callosum morphology	815	CAMK2A	OMIM:617798
HP:0001273	Abnormal corpus callosum morphology	894	CCND2	OMIM:615938
HP:0001273	Abnormal corpus callosum morphology	157680	VPS13B	OMIM:216550
HP:0001273	Abnormal corpus callosum morphology	79600	TCTN1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	79600	TCTN1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:1454
HP:0001273	Abnormal corpus callosum morphology	200894	ARL13B	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	9731	CEP104	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	23247	KATNIP	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	219854	TMEM218	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	79867	TCTN2	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	79867	TCTN2	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	80776	B9D2	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	80776	B9D2	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	10464	PIBF1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	25776	CBY1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	27077	B9D1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	27077	B9D1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	403	ARL3	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	3981	LIG4	ORPHA:235
HP:0001273	Abnormal corpus callosum morphology	54888	NSUN2	ORPHA:235
HP:0001273	Abnormal corpus callosum morphology	27238	GPKOW	ORPHA:2570
HP:0001273	Abnormal corpus callosum morphology	6197	RPS6KA3	ORPHA:192
HP:0001273	Abnormal corpus callosum morphology	3265	HRAS	ORPHA:2612
HP:0001273	Abnormal corpus callosum morphology	4893	NRAS	ORPHA:2612
HP:0001273	Abnormal corpus callosum morphology	64327	LMBR1	ORPHA:2378
HP:0001273	Abnormal corpus callosum morphology	673	BRAF	OMIM:115150
HP:0001273	Abnormal corpus callosum morphology	95	ACY1	ORPHA:137754
HP:0001273	Abnormal corpus callosum morphology	64324	NSD1	ORPHA:821
HP:0001273	Abnormal corpus callosum morphology	54968	TMEM70	ORPHA:1194
HP:0001273	Abnormal corpus callosum morphology	51715	RAB23	OMIM:201000
HP:0001273	Abnormal corpus callosum morphology	84162	BLTP1	OMIM:617822
HP:0001273	Abnormal corpus callosum morphology	2314	FLII	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	23096	IQSEC2	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	10522	DEAF1	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	51114	ZDHHC9	ORPHA:776
HP:0001273	Abnormal corpus callosum morphology	65109	UPF3B	ORPHA:776
HP:0001273	Abnormal corpus callosum morphology	5189	PEX1	OMIM:214100
HP:0001273	Abnormal corpus callosum morphology	10479	SLC9A6	ORPHA:85278
HP:0001273	Abnormal corpus callosum morphology	10225	CD96	ORPHA:1308
HP:0001273	Abnormal corpus callosum morphology	79583	TMEM231	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	79583	TMEM231	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	51524	TMEM138	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	23090	ZNF423	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	10210	TOPORS	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	317662	FAM149B1	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	8260	NAA10	ORPHA:568
HP:0001273	Abnormal corpus callosum morphology	84314	TMEM107	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	57096	RPGRIP1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	79770	TXNDC15	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	9184	BUB3	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	699	BUB1	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	9702	CEP57	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	9319	TRIP13	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	29980	DONSON	OMIM:251230
HP:0001273	Abnormal corpus callosum morphology	1203	CLN5	ORPHA:228360
HP:0001273	Abnormal corpus callosum morphology	10059	DNM1L	ORPHA:98673
HP:0001273	Abnormal corpus callosum morphology	4976	OPA1	ORPHA:98673
HP:0001273	Abnormal corpus callosum morphology	4702	NDUFA8	OMIM:619272
HP:0001273	Abnormal corpus callosum morphology	4099	MAG	OMIM:616680
HP:0001273	Abnormal corpus callosum morphology	10134	BCAP31	ORPHA:369939
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	OMIM:616586
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	ORPHA:447753
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	OMIM:601162
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	ORPHA:447760
HP:0001273	Abnormal corpus callosum morphology	4125	MAN2B1	OMIM:248500
HP:0001273	Abnormal corpus callosum morphology	777	CACNA1E	OMIM:618285
HP:0001273	Abnormal corpus callosum morphology	64207	IRF2BPL	OMIM:618088
HP:0001273	Abnormal corpus callosum morphology	51728	POLR3K	OMIM:619310
HP:0001273	Abnormal corpus callosum morphology	10273	STUB1	ORPHA:412057
HP:0001273	Abnormal corpus callosum morphology	9255	AIMP1	OMIM:260600
HP:0001273	Abnormal corpus callosum morphology	51692	CPSF3	OMIM:619876
HP:0001273	Abnormal corpus callosum morphology	4191	MDH2	OMIM:617339
HP:0001273	Abnormal corpus callosum morphology	84188	FAR1	ORPHA:447753
HP:0001273	Abnormal corpus callosum morphology	27072	VPS41	OMIM:619389
HP:0001273	Abnormal corpus callosum morphology	51761	ATP8A2	OMIM:615268
HP:0001273	Abnormal corpus callosum morphology	9409	PEX16	OMIM:614877
HP:0001273	Abnormal corpus callosum morphology	79944	L2HGDH	OMIM:236792
HP:0001273	Abnormal corpus callosum morphology	27183	VPS4A	OMIM:619273
HP:0001273	Abnormal corpus callosum morphology	57003	CCDC47	OMIM:618268
HP:0001273	Abnormal corpus callosum morphology	9759	HDAC4	OMIM:619797
HP:0001273	Abnormal corpus callosum morphology	7862	BRPF1	OMIM:617333
HP:0001273	Abnormal corpus callosum morphology	23040	MYT1L	OMIM:616521
HP:0001273	Abnormal corpus callosum morphology	3839	KPNA3	OMIM:620106
HP:0001273	Abnormal corpus callosum morphology	5393	EXOSC9	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	51010	EXOSC3	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	7443	VRK1	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	91137	SLC25A46	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	4897	NRCAM	OMIM:619833
HP:0001273	Abnormal corpus callosum morphology	116115	ZNF526	OMIM:619877
HP:0001273	Abnormal corpus callosum morphology	3008	H1-4	OMIM:617537
HP:0001273	Abnormal corpus callosum morphology	55733	HHAT	OMIM:600092
HP:0001273	Abnormal corpus callosum morphology	90624	LYRM7	OMIM:615838
HP:0001273	Abnormal corpus callosum morphology	1119	CHKA	OMIM:620023
HP:0001273	Abnormal corpus callosum morphology	93210	PGAP3	OMIM:615716
HP:0001273	Abnormal corpus callosum morphology	83475	DOHH	OMIM:620066
HP:0001273	Abnormal corpus callosum morphology	11198	SUPT16H	OMIM:619480
HP:0001273	Abnormal corpus callosum morphology	5605	MAP2K2	OMIM:615280
HP:0001273	Abnormal corpus callosum morphology	54828	BCAS3	OMIM:619641
HP:0001273	Abnormal corpus callosum morphology	55182	RNF220	OMIM:619688
HP:0001273	Abnormal corpus callosum morphology	9442	MED27	OMIM:619286
HP:0001273	Abnormal corpus callosum morphology	318	NUDT2	OMIM:619844
HP:0001273	Abnormal corpus callosum morphology	23031	MAST3	OMIM:620115
HP:0001273	Abnormal corpus callosum morphology	84520	GON7	OMIM:619603
HP:0001273	Abnormal corpus callosum morphology	79158	GNPTAB	OMIM:252500
HP:0001273	Abnormal corpus callosum morphology	387119	CEP85L	ORPHA:572013
HP:0001273	Abnormal corpus callosum morphology	10430	TMEM147	OMIM:620075
HP:0001273	Abnormal corpus callosum morphology	6595	SMARCA2	OMIM:619293
HP:0001273	Abnormal corpus callosum morphology	5934	RBL2	OMIM:619690
HP:0001273	Abnormal corpus callosum morphology	7143	TNR	OMIM:619653
HP:0001273	Abnormal corpus callosum morphology	23250	ATP11A	OMIM:619851
HP:0001273	Abnormal corpus callosum morphology	4123	MAN2C1	OMIM:619775
HP:0001273	Abnormal corpus callosum morphology	92255	LMBRD2	OMIM:619694
HP:0001273	Abnormal corpus callosum morphology	111	ADCY5	OMIM:619651
HP:0001273	Abnormal corpus callosum morphology	7283	TUBG1	OMIM:615412
HP:0001273	Abnormal corpus callosum morphology	9487	PIGL	OMIM:280000
HP:0001273	Abnormal corpus callosum morphology	23219	FBXO28	OMIM:619777
HP:0001273	Abnormal corpus callosum morphology	1107	CHD3	OMIM:618205
HP:0001273	Abnormal corpus callosum morphology	7920	ABHD16A	OMIM:619735
HP:0001273	Abnormal corpus callosum morphology	9439	MED23	OMIM:614249
HP:0001273	Abnormal corpus callosum morphology	819	CAMLG	OMIM:620201
HP:0001273	Abnormal corpus callosum morphology	2801	GOLGA2	OMIM:620240
HP:0001273	Abnormal corpus callosum morphology	2898	GRIK2	OMIM:619580
HP:0001273	Abnormal corpus callosum morphology	26175	LYSET	OMIM:619345
HP:0001273	Abnormal corpus callosum morphology	283987	HID1	OMIM:619983
HP:0001273	Abnormal corpus callosum morphology	5442	POLRMT	OMIM:619743
HP:0001273	Abnormal corpus callosum morphology	127833	SYT2	OMIM:619461
HP:0001273	Abnormal corpus callosum morphology	3980	LIG3	OMIM:619780
HP:0001273	Abnormal corpus callosum morphology	1892	ECHS1	OMIM:616277
HP:0001273	Abnormal corpus callosum morphology	2720	GLB1	OMIM:253010
HP:0001273	Abnormal corpus callosum morphology	3708	ITPR1	OMIM:206700
HP:0001273	Abnormal corpus callosum morphology	9230	RAB11B	OMIM:617807
HP:0001273	Abnormal corpus callosum morphology	5297	PI4KA	OMIM:619708
HP:0001273	Abnormal corpus callosum morphology	7074	TIAM1	OMIM:619908
HP:0001273	Abnormal corpus callosum morphology	10533	ATG7	OMIM:619422
HP:0001273	Abnormal corpus callosum morphology	129685	TAF8	OMIM:619972
HP:0001273	Abnormal corpus callosum morphology	197	AHSG	ORPHA:2850
HP:0001273	Abnormal corpus callosum morphology	3694	ITGB6	ORPHA:2850
HP:0001279	Syncope	4352	MPL	ORPHA:71493
HP:0001279	Syncope	7066	THPO	ORPHA:71493
HP:0001279	Syncope	3717	JAK2	ORPHA:71493
HP:0001279	Syncope	4000	LMNA	ORPHA:300751
HP:0001279	Syncope	4000	LMNA	OMIM:181350
HP:0001279	Syncope	9992	KCNE2	OMIM:613693
HP:0001279	Syncope	9992	KCNE2	ORPHA:101016
HP:0001279	Syncope	253017	TECRL	OMIM:614021
HP:0001279	Syncope	253017	TECRL	ORPHA:3286
HP:0001279	Syncope	3753	KCNE1	OMIM:613695
HP:0001279	Syncope	3753	KCNE1	ORPHA:101016
HP:0001279	Syncope	3753	KCNE1	ORPHA:90647
HP:0001279	Syncope	3753	KCNE1	OMIM:612347
HP:0001279	Syncope	5663	PSEN1	OMIM:613694
HP:0001279	Syncope	5664	PSEN2	OMIM:613697
HP:0001279	Syncope	171023	ASXL1	ORPHA:98849
HP:0001279	Syncope	54790	TET2	ORPHA:98849
HP:0001279	Syncope	3815	KIT	ORPHA:98849
HP:0001279	Syncope	6427	SRSF2	ORPHA:98849
HP:0001279	Syncope	3757	KCNH2	OMIM:609620
HP:0001279	Syncope	3757	KCNH2	ORPHA:101016
HP:0001279	Syncope	3757	KCNH2	ORPHA:51083
HP:0001279	Syncope	3757	KCNH2	OMIM:613688
HP:0001279	Syncope	3784	KCNQ1	OMIM:609621
HP:0001279	Syncope	3784	KCNQ1	OMIM:192500
HP:0001279	Syncope	3784	KCNQ1	OMIM:607554
HP:0001279	Syncope	3784	KCNQ1	ORPHA:101016
HP:0001279	Syncope	3784	KCNQ1	OMIM:220400
HP:0001279	Syncope	3784	KCNQ1	ORPHA:51083
HP:0001279	Syncope	3784	KCNQ1	ORPHA:90647
HP:0001279	Syncope	10021	HCN4	OMIM:163800
HP:0001279	Syncope	10021	HCN4	ORPHA:130
HP:0001279	Syncope	3728	JUP	OMIM:601214
HP:0001279	Syncope	3728	JUP	OMIM:611528
HP:0001279	Syncope	70	ACTC1	OMIM:612098
HP:0001279	Syncope	70	ACTC1	ORPHA:99103
HP:0001279	Syncope	287	ANK2	OMIM:600919
HP:0001279	Syncope	287	ANK2	ORPHA:101016
HP:0001279	Syncope	3759	KCNJ2	OMIM:613980
HP:0001279	Syncope	3759	KCNJ2	OMIM:170390
HP:0001279	Syncope	3759	KCNJ2	ORPHA:51083
HP:0001279	Syncope	3759	KCNJ2	ORPHA:37553
HP:0001279	Syncope	1824	DSC2	OMIM:610476
HP:0001279	Syncope	6833	ABCC8	ORPHA:276575
HP:0001279	Syncope	100996717	NOTCH2NLC	OMIM:603472
HP:0001279	Syncope	3767	KCNJ11	ORPHA:276580
HP:0001279	Syncope	54795	TRPM4	OMIM:604559
HP:0001279	Syncope	54795	TRPM4	ORPHA:871
HP:0001279	Syncope	54795	TRPM4	ORPHA:130
HP:0001279	Syncope	801	CALM1	ORPHA:101016
HP:0001279	Syncope	801	CALM1	OMIM:614916
HP:0001279	Syncope	801	CALM1	ORPHA:3286
HP:0001279	Syncope	3762	KCNJ5	ORPHA:101016
HP:0001279	Syncope	3762	KCNJ5	OMIM:613485
HP:0001279	Syncope	3762	KCNJ5	ORPHA:37553
HP:0001279	Syncope	805	CALM2	ORPHA:101016
HP:0001279	Syncope	805	CALM2	OMIM:616249
HP:0001279	Syncope	805	CALM2	ORPHA:3286
HP:0001279	Syncope	6910	TBX5	ORPHA:101016
HP:0001279	Syncope	6336	SCN10A	ORPHA:101016
HP:0001279	Syncope	6336	SCN10A	ORPHA:130
HP:0001279	Syncope	10142	AKAP9	ORPHA:101016
HP:0001279	Syncope	10142	AKAP9	ORPHA:130
HP:0001279	Syncope	10142	AKAP9	OMIM:611820
HP:0001279	Syncope	9722	NOS1AP	ORPHA:101016
HP:0001279	Syncope	775	CACNA1C	ORPHA:101016
HP:0001279	Syncope	775	CACNA1C	OMIM:611875
HP:0001279	Syncope	775	CACNA1C	ORPHA:130
HP:0001279	Syncope	775	CACNA1C	OMIM:618447
HP:0001279	Syncope	10345	TRDN	ORPHA:101016
HP:0001279	Syncope	10345	TRDN	OMIM:604772
HP:0001279	Syncope	10345	TRDN	OMIM:615441
HP:0001279	Syncope	10345	TRDN	ORPHA:3286
HP:0001279	Syncope	6331	SCN5A	ORPHA:101016
HP:0001279	Syncope	6331	SCN5A	ORPHA:1344
HP:0001279	Syncope	6331	SCN5A	OMIM:601154
HP:0001279	Syncope	6331	SCN5A	OMIM:113900
HP:0001279	Syncope	6331	SCN5A	ORPHA:871
HP:0001279	Syncope	6331	SCN5A	OMIM:601144
HP:0001279	Syncope	6331	SCN5A	OMIM:603830
HP:0001279	Syncope	6331	SCN5A	ORPHA:130
HP:0001279	Syncope	6331	SCN5A	OMIM:603829
HP:0001279	Syncope	6330	SCN4B	ORPHA:101016
HP:0001279	Syncope	808	CALM3	ORPHA:101016
HP:0001279	Syncope	808	CALM3	ORPHA:3286
HP:0001279	Syncope	6640	SNTA1	ORPHA:101016
HP:0001279	Syncope	6640	SNTA1	OMIM:612955
HP:0001279	Syncope	859	CAV3	ORPHA:101016
HP:0001279	Syncope	859	CAV3	OMIM:611818
HP:0001279	Syncope	79572	ATP13A3	OMIM:265400
HP:0001279	Syncope	4878	NPPA	ORPHA:1344
HP:0001279	Syncope	5318	PKP2	OMIM:609040
HP:0001279	Syncope	5318	PKP2	ORPHA:130
HP:0001279	Syncope	2783	GNB2	OMIM:619464
HP:0001279	Syncope	7134	TNNC1	OMIM:613243
HP:0001279	Syncope	1832	DSP	OMIM:615821
HP:0001279	Syncope	9152	SLC6A5	OMIM:614618
HP:0001279	Syncope	781	CACNA2D1	ORPHA:51083
HP:0001279	Syncope	781	CACNA2D1	ORPHA:130
HP:0001279	Syncope	6508	SLC4A3	ORPHA:51083
HP:0001279	Syncope	6508	SLC4A3	OMIM:620231
HP:0001279	Syncope	7092	TLL1	ORPHA:99106
HP:0001279	Syncope	7092	TLL1	ORPHA:99103
HP:0001279	Syncope	1482	NKX2-5	ORPHA:871
HP:0001279	Syncope	1482	NKX2-5	ORPHA:99103
HP:0001279	Syncope	6324	SCN1B	ORPHA:871
HP:0001279	Syncope	6324	SCN1B	ORPHA:130
HP:0001279	Syncope	57057	TBX20	ORPHA:99103
HP:0001279	Syncope	4624	MYH6	ORPHA:99103
HP:0001279	Syncope	10370	CITED2	ORPHA:99103
HP:0001279	Syncope	2626	GATA4	ORPHA:99103
HP:0001279	Syncope	2627	GATA6	ORPHA:99103
HP:0001279	Syncope	4607	MYBPC3	OMIM:115197
HP:0001279	Syncope	4607	MYBPC3	OMIM:615396
HP:0001279	Syncope	51422	PRKAG2	OMIM:600858
HP:0001279	Syncope	51422	PRKAG2	OMIM:194200
HP:0001279	Syncope	8314	BAP1	ORPHA:2495
HP:0001279	Syncope	4771	NF2	ORPHA:2495
HP:0001279	Syncope	6598	SMARCB1	ORPHA:2495
HP:0001279	Syncope	5155	PDGFB	ORPHA:2495
HP:0001279	Syncope	84231	TRAF7	ORPHA:2495
HP:0001279	Syncope	6608	SMO	ORPHA:2495
HP:0001279	Syncope	207	AKT1	ORPHA:2495
HP:0001279	Syncope	5290	PIK3CA	ORPHA:2495
HP:0001279	Syncope	7015	TERT	ORPHA:2495
HP:0001279	Syncope	51684	SUFU	ORPHA:2495
HP:0001279	Syncope	6605	SMARCE1	ORPHA:2495
HP:0001279	Syncope	783	CACNB2	OMIM:611876
HP:0001279	Syncope	783	CACNB2	ORPHA:130
HP:0001279	Syncope	84665	MYPN	ORPHA:75249
HP:0001279	Syncope	2318	FLNC	ORPHA:75249
HP:0001279	Syncope	7139	TNNT2	ORPHA:75249
HP:0001279	Syncope	7137	TNNI3	ORPHA:75249
HP:0001279	Syncope	10112	KIF20A	ORPHA:75249
HP:0001279	Syncope	6262	RYR2	OMIM:604772
HP:0001279	Syncope	6262	RYR2	ORPHA:3286
HP:0001279	Syncope	845	CASQ2	OMIM:604772
HP:0001279	Syncope	845	CASQ2	ORPHA:3286
HP:0001279	Syncope	845	CASQ2	OMIM:611938
HP:0001279	Syncope	11149	BVES	OMIM:616812
HP:0001279	Syncope	23630	KCNE5	ORPHA:130
HP:0001279	Syncope	10371	SEMA3A	ORPHA:130
HP:0001279	Syncope	3764	KCNJ8	ORPHA:130
HP:0001279	Syncope	3752	KCND3	ORPHA:130
HP:0001279	Syncope	7871	SLMAP	ORPHA:130
HP:0001279	Syncope	10060	ABCC9	ORPHA:130
HP:0001279	Syncope	29098	RANGRF	ORPHA:130
HP:0001279	Syncope	10008	KCNE3	ORPHA:130
HP:0001279	Syncope	55800	SCN3B	ORPHA:130
HP:0001279	Syncope	6337	SCNN1A	ORPHA:130
HP:0001279	Syncope	6327	SCN2B	ORPHA:130
HP:0001279	Syncope	23171	GPD1L	ORPHA:130
HP:0001279	Syncope	23171	GPD1L	OMIM:611777
HP:0001279	Syncope	1512	CTSH	ORPHA:2073
HP:0001279	Syncope	5032	P2RY11	ORPHA:2073
HP:0001279	Syncope	4340	MOG	ORPHA:2073
HP:0001279	Syncope	3119	HLA-DQB1	ORPHA:2073
HP:0001279	Syncope	3060	HCRT	ORPHA:2073
HP:0001279	Syncope	22891	ZNF365	ORPHA:2073
HP:0001279	Syncope	7292	TNFSF4	ORPHA:2073
HP:0001279	Syncope	3123	HLA-DRB1	ORPHA:2073
HP:0001279	Syncope	54941	RNF125	OMIM:616260
HP:0001279	Syncope	3920	LAMP2	OMIM:300257
HP:0001279	Syncope	51778	MYOZ2	OMIM:613838
HP:0001279	Syncope	4914	NTRK1	ORPHA:642
HP:0001279	Syncope	6927	HNF1A	ORPHA:324575
HP:0001279	Syncope	776	CACNA1D	OMIM:614896
HP:0001279	Syncope	144245	ALG10B	OMIM:613688
HP:0001279	Syncope	7351	UCP2	ORPHA:276556
HP:0001279	Syncope	1188	CLCNKB	ORPHA:358
HP:0001279	Syncope	6559	SLC12A3	ORPHA:358
HP:0001279	Syncope	1621	DBH	ORPHA:230
HP:0001279	Syncope	27235	COQ2	ORPHA:227510
HP:0001279	Syncope	27235	COQ2	ORPHA:98933
HP:0001279	Syncope	4247	MGAT2	ORPHA:79329
HP:0011491	Reduced number of corneal endothelial cells	6935	ZEB1	ORPHA:98973
HP:0011491	Reduced number of corneal endothelial cells	6935	ZEB1	ORPHA:98974
HP:0011491	Reduced number of corneal endothelial cells	30813	VSX1	ORPHA:98973
HP:0011491	Reduced number of corneal endothelial cells	58495	OVOL2	ORPHA:98973
HP:0011491	Reduced number of corneal endothelial cells	79977	GRHL2	ORPHA:98973
HP:0011491	Reduced number of corneal endothelial cells	1296	COL8A2	ORPHA:98973
HP:0011491	Reduced number of corneal endothelial cells	1296	COL8A2	ORPHA:98974
HP:0011491	Reduced number of corneal endothelial cells	123624	AGBL1	ORPHA:98974
HP:0011491	Reduced number of corneal endothelial cells	6925	TCF4	ORPHA:98974
HP:0011491	Reduced number of corneal endothelial cells	83959	SLC4A11	ORPHA:98974
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	ORPHA:411641
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	OMIM:219800
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	OMIM:219900
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	ORPHA:411634
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	ORPHA:411629
HP:0011492	Abnormal corneal stroma morphology	1497	CTNS	OMIM:219750
HP:0011492	Abnormal corneal stroma morphology	80781	COL18A1	OMIM:267750
HP:0011492	Abnormal corneal stroma morphology	8671	SLC4A4	OMIM:604278
HP:0011492	Abnormal corneal stroma morphology	64127	NOD2	OMIM:186580
HP:0011492	Abnormal corneal stroma morphology	30813	VSX1	OMIM:614195
HP:0011492	Abnormal corneal stroma morphology	6775	STAT4	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	3560	IL2RB	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	79722	ANKRD55	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	26191	PTPN22	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	919	CD247	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	3559	IL2RA	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	5771	PTPN2	ORPHA:85410
HP:0011492	Abnormal corneal stroma morphology	58495	OVOL2	OMIM:122000
HP:0011492	Abnormal corneal stroma morphology	182	JAG1	OMIM:118450
HP:0011492	Abnormal corneal stroma morphology	2778	GNAS	ORPHA:79443
HP:0011492	Abnormal corneal stroma morphology	11081	KERA	OMIM:217300
HP:0011492	Abnormal corneal stroma morphology	55315	SLC29A3	OMIM:602782
HP:0011492	Abnormal corneal stroma morphology	55315	SLC29A3	ORPHA:168569
HP:0011492	Abnormal corneal stroma morphology	255738	PCSK9	OMIM:603776
HP:0011492	Abnormal corneal stroma morphology	338	APOB	OMIM:144010
HP:0011492	Abnormal corneal stroma morphology	336	APOA2	OMIM:143890
HP:0011492	Abnormal corneal stroma morphology	2053	EPHX2	OMIM:143890
HP:0011492	Abnormal corneal stroma morphology	10842	PPP1R17	OMIM:143890
HP:0011492	Abnormal corneal stroma morphology	2690	GHR	OMIM:143890
HP:0011492	Abnormal corneal stroma morphology	3949	LDLR	OMIM:143890
HP:0011492	Abnormal corneal stroma morphology	3990	LIPC	OMIM:614025
HP:0011492	Abnormal corneal stroma morphology	91851	CHRDL1	OMIM:309300
HP:0011492	Abnormal corneal stroma morphology	5832	ALDH18A1	OMIM:219150
HP:0011492	Abnormal corneal stroma morphology	348	APOE	ORPHA:412
HP:0011492	Abnormal corneal stroma morphology	64241	ABCG8	OMIM:210250
HP:0011492	Abnormal corneal stroma morphology	5309	PITX3	OMIM:107250
HP:0011492	Abnormal corneal stroma morphology	2074	ERCC6	OMIM:133540
HP:0011492	Abnormal corneal stroma morphology	83959	SLC4A11	OMIM:217700
HP:0011492	Abnormal corneal stroma morphology	83959	SLC4A11	OMIM:217400
HP:0011492	Abnormal corneal stroma morphology	6309	SC5D	ORPHA:46059
HP:0011492	Abnormal corneal stroma morphology	6309	SC5D	OMIM:607330
HP:0011492	Abnormal corneal stroma morphology	59341	TRPV4	OMIM:184095
HP:0011492	Abnormal corneal stroma morphology	2588	GALNS	OMIM:253000
HP:0011492	Abnormal corneal stroma morphology	5080	PAX6	ORPHA:2334
HP:0011492	Abnormal corneal stroma morphology	5080	PAX6	ORPHA:708
HP:0011492	Abnormal corneal stroma morphology	5080	PAX6	OMIM:148190
HP:0011492	Abnormal corneal stroma morphology	5080	PAX6	OMIM:106210
HP:0011492	Abnormal corneal stroma morphology	114548	NLRP3	OMIM:148200
HP:0011492	Abnormal corneal stroma morphology	5828	PEX2	OMIM:614866
HP:0011492	Abnormal corneal stroma morphology	4166	CHST6	ORPHA:98969
HP:0011492	Abnormal corneal stroma morphology	19	ABCA1	OMIM:205400
HP:0011492	Abnormal corneal stroma morphology	19	ABCA1	ORPHA:425
HP:0011492	Abnormal corneal stroma morphology	55624	POMGNT1	OMIM:253280
HP:0011492	Abnormal corneal stroma morphology	1545	CYP1B1	ORPHA:708
HP:0011492	Abnormal corneal stroma morphology	2301	FOXE3	ORPHA:708
HP:0011492	Abnormal corneal stroma morphology	5308	PITX2	ORPHA:708
HP:0011492	Abnormal corneal stroma morphology	2296	FOXC1	ORPHA:708
HP:0011492	Abnormal corneal stroma morphology	84942	WDR73	OMIM:251300
HP:0011492	Abnormal corneal stroma morphology	4693	NDP	OMIM:310600
HP:0011492	Abnormal corneal stroma morphology	5830	PEX5	OMIM:214110
HP:0011492	Abnormal corneal stroma morphology	7045	TGFBI	ORPHA:98963
HP:0011492	Abnormal corneal stroma morphology	7045	TGFBI	ORPHA:98960
HP:0011492	Abnormal corneal stroma morphology	7045	TGFBI	OMIM:608470
HP:0011492	Abnormal corneal stroma morphology	335	APOA1	ORPHA:425
HP:0011492	Abnormal corneal stroma morphology	6720	SREBF1	OMIM:158310
HP:0011492	Abnormal corneal stroma morphology	51360	MBTPS2	OMIM:308205
HP:0011492	Abnormal corneal stroma morphology	2312	FLG	ORPHA:461
HP:0011492	Abnormal corneal stroma morphology	412	STS	ORPHA:461
HP:0011492	Abnormal corneal stroma morphology	412	STS	OMIM:308100
HP:0011492	Abnormal corneal stroma morphology	51715	RAB23	OMIM:201000
HP:0011492	Abnormal corneal stroma morphology	11041	B4GAT1	OMIM:615287
HP:0011492	Abnormal corneal stroma morphology	162514	TRPV3	OMIM:614594
HP:0011492	Abnormal corneal stroma morphology	2720	GLB1	OMIM:230650
HP:0011492	Abnormal corneal stroma morphology	2720	GLB1	OMIM:253010
HP:0011492	Abnormal corneal stroma morphology	100506658	OCLN	OMIM:251290
HP:0011492	Abnormal corneal stroma morphology	50485	SMARCAL1	OMIM:242900
HP:0011492	Abnormal corneal stroma morphology	326	AIRE	ORPHA:3453
HP:0011492	Abnormal corneal stroma morphology	1161	ERCC8	OMIM:216400
HP:0011492	Abnormal corneal stroma morphology	79158	GNPTAB	OMIM:252500
HP:0011492	Abnormal corneal stroma morphology	79158	GNPTAB	OMIM:252600
HP:0011492	Abnormal corneal stroma morphology	5476	CTSA	OMIM:256540
HP:0011492	Abnormal corneal stroma morphology	5189	PEX1	OMIM:214100
HP:0011492	Abnormal corneal stroma morphology	427	ASAH1	ORPHA:333
HP:0011492	Abnormal corneal stroma morphology	84572	GNPTG	OMIM:252605
HP:0011492	Abnormal corneal stroma morphology	3423	IDS	OMIM:309900
HP:0011492	Abnormal corneal stroma morphology	4668	NAGA	ORPHA:79280
HP:0011492	Abnormal corneal stroma morphology	57192	MCOLN1	OMIM:252650
HP:0011492	Abnormal corneal stroma morphology	157570	ESCO2	OMIM:268300
HP:0011492	Abnormal corneal stroma morphology	3931	LCAT	OMIM:136120
HP:0011492	Abnormal corneal stroma morphology	3845	KRAS	OMIM:600268
HP:0011492	Abnormal corneal stroma morphology	3977	LIFR	OMIM:601559
HP:0011492	Abnormal corneal stroma morphology	54101	RIPK4	OMIM:263650
HP:0011492	Abnormal corneal stroma morphology	338917	VSX2	OMIM:610093
HP:0011492	Abnormal corneal stroma morphology	4914	NTRK1	OMIM:256800
HP:0011492	Abnormal corneal stroma morphology	2629	GBA1	OMIM:231005
HP:0011492	Abnormal corneal stroma morphology	6399	TRAPPC2	OMIM:313400
HP:0011492	Abnormal corneal stroma morphology	3425	IDUA	OMIM:607014
HP:0011492	Abnormal corneal stroma morphology	7490	WT1	OMIM:106210
HP:0011492	Abnormal corneal stroma morphology	2068	ERCC2	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	7507	XPA	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	2071	ERCC3	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	7508	XPC	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	1643	DDB2	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	2072	ERCC4	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	2073	ERCC5	ORPHA:910
HP:0011492	Abnormal corneal stroma morphology	285440	CYP4V2	ORPHA:41751
HP:0011492	Abnormal corneal stroma morphology	29914	UBIAD1	OMIM:121800
HP:0011492	Abnormal corneal stroma morphology	3859	KRT12	OMIM:122100
HP:0011492	Abnormal corneal stroma morphology	5696	PSMB8	OMIM:256040
HP:0011492	Abnormal corneal stroma morphology	4313	MMP2	OMIM:259600
HP:0011492	Abnormal corneal stroma morphology	6655	SOS2	OMIM:616559
HP:0011492	Abnormal corneal stroma morphology	8216	LZTR1	OMIM:616564
HP:0011492	Abnormal corneal stroma morphology	6935	ZEB1	OMIM:613270
HP:0011492	Abnormal corneal stroma morphology	6935	ZEB1	ORPHA:98973
HP:0011492	Abnormal corneal stroma morphology	5159	PDGFRB	OMIM:601812
HP:0011492	Abnormal corneal stroma morphology	7010	TEK	OMIM:617272
HP:0011492	Abnormal corneal stroma morphology	1296	COL8A2	OMIM:136800
HP:0011492	Abnormal corneal stroma morphology	1296	COL8A2	ORPHA:98973
HP:0011492	Abnormal corneal stroma morphology	6925	TCF4	OMIM:613267
HP:0011492	Abnormal corneal stroma morphology	79977	GRHL2	ORPHA:98973
HP:0011492	Abnormal corneal stroma morphology	10935	PRDX3	OMIM:619871
HP:0011493	Central opacification of the cornea	80781	COL18A1	OMIM:267750
HP:0011493	Central opacification of the cornea	8671	SLC4A4	OMIM:604278
HP:0011493	Central opacification of the cornea	64127	NOD2	OMIM:186580
HP:0011493	Central opacification of the cornea	30813	VSX1	OMIM:614195
HP:0011493	Central opacification of the cornea	6775	STAT4	ORPHA:85410
HP:0011493	Central opacification of the cornea	3560	IL2RB	ORPHA:85410
HP:0011493	Central opacification of the cornea	79722	ANKRD55	ORPHA:85410
HP:0011493	Central opacification of the cornea	26191	PTPN22	ORPHA:85410
HP:0011493	Central opacification of the cornea	919	CD247	ORPHA:85410
HP:0011493	Central opacification of the cornea	3559	IL2RA	ORPHA:85410
HP:0011493	Central opacification of the cornea	5771	PTPN2	ORPHA:85410
HP:0011493	Central opacification of the cornea	58495	OVOL2	OMIM:122000
HP:0011493	Central opacification of the cornea	182	JAG1	OMIM:118450
HP:0011493	Central opacification of the cornea	2778	GNAS	ORPHA:79443
HP:0011493	Central opacification of the cornea	1545	CYP1B1	ORPHA:708
HP:0011493	Central opacification of the cornea	5080	PAX6	ORPHA:708
HP:0011493	Central opacification of the cornea	2301	FOXE3	ORPHA:708
HP:0011493	Central opacification of the cornea	5308	PITX2	ORPHA:708
HP:0011493	Central opacification of the cornea	2296	FOXC1	ORPHA:708
HP:0011493	Central opacification of the cornea	7045	TGFBI	ORPHA:98962
HP:0011493	Central opacification of the cornea	7045	TGFBI	ORPHA:98963
HP:0011493	Central opacification of the cornea	7045	TGFBI	ORPHA:98964
HP:0011490	Abnormal Descemet membrane morphology	58495	OVOL2	OMIM:122000
HP:0011490	Abnormal Descemet membrane morphology	58495	OVOL2	ORPHA:98973
HP:0011490	Abnormal Descemet membrane morphology	1545	CYP1B1	OMIM:617315
HP:0011490	Abnormal Descemet membrane morphology	83959	SLC4A11	OMIM:217700
HP:0011490	Abnormal Descemet membrane morphology	83959	SLC4A11	ORPHA:293603
HP:0011490	Abnormal Descemet membrane morphology	83959	SLC4A11	ORPHA:98974
HP:0011490	Abnormal Descemet membrane morphology	6935	ZEB1	OMIM:613270
HP:0011490	Abnormal Descemet membrane morphology	6935	ZEB1	ORPHA:98973
HP:0011490	Abnormal Descemet membrane morphology	6935	ZEB1	ORPHA:98974
HP:0011490	Abnormal Descemet membrane morphology	30813	VSX1	ORPHA:98973
HP:0011490	Abnormal Descemet membrane morphology	79977	GRHL2	ORPHA:98973
HP:0011490	Abnormal Descemet membrane morphology	1296	COL8A2	ORPHA:98973
HP:0011490	Abnormal Descemet membrane morphology	1296	COL8A2	ORPHA:98974
HP:0011490	Abnormal Descemet membrane morphology	123624	AGBL1	ORPHA:98974
HP:0011490	Abnormal Descemet membrane morphology	6925	TCF4	ORPHA:98974
HP:0011490	Abnormal Descemet membrane morphology	3769	KCNJ13	OMIM:193230
HP:0011490	Abnormal Descemet membrane morphology	5080	PAX6	ORPHA:708
HP:0011490	Abnormal Descemet membrane morphology	2301	FOXE3	ORPHA:708
HP:0011490	Abnormal Descemet membrane morphology	5308	PITX2	ORPHA:708
HP:0011490	Abnormal Descemet membrane morphology	2296	FOXC1	ORPHA:708
HP:0011495	Abnormal corneal epithelium morphology	10804	GJB6	ORPHA:477
HP:0011495	Abnormal corneal epithelium morphology	1643	DDB2	OMIM:278740
HP:0011495	Abnormal corneal epithelium morphology	1643	DDB2	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	5080	PAX6	ORPHA:2334
HP:0011495	Abnormal corneal epithelium morphology	5080	PAX6	OMIM:148190
HP:0011495	Abnormal corneal epithelium morphology	114548	NLRP3	OMIM:148200
HP:0011495	Abnormal corneal epithelium morphology	7454	WAS	ORPHA:906
HP:0011495	Abnormal corneal epithelium morphology	7456	WIPF1	ORPHA:906
HP:0011495	Abnormal corneal epithelium morphology	7507	XPA	OMIM:278700
HP:0011495	Abnormal corneal epithelium morphology	7507	XPA	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	8517	IKBKG	ORPHA:464
HP:0011495	Abnormal corneal epithelium morphology	8517	IKBKG	OMIM:308300
HP:0011495	Abnormal corneal epithelium morphology	5429	POLH	OMIM:278750
HP:0011495	Abnormal corneal epithelium morphology	5429	POLH	ORPHA:90342
HP:0011495	Abnormal corneal epithelium morphology	55343	SLC35C1	ORPHA:99843
HP:0011495	Abnormal corneal epithelium morphology	6720	SREBF1	OMIM:619016
HP:0011495	Abnormal corneal epithelium morphology	6935	ZEB1	OMIM:613270
HP:0011495	Abnormal corneal epithelium morphology	5339	PLEC	OMIM:226670
HP:0011495	Abnormal corneal epithelium morphology	8218	CLTCL1	ORPHA:453510
HP:0011495	Abnormal corneal epithelium morphology	3572	IL6ST	OMIM:618523
HP:0011495	Abnormal corneal epithelium morphology	2074	ERCC6	OMIM:278800
HP:0011495	Abnormal corneal epithelium morphology	64127	NOD2	ORPHA:90340
HP:0011495	Abnormal corneal epithelium morphology	7508	XPC	OMIM:278720
HP:0011495	Abnormal corneal epithelium morphology	7508	XPC	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	8626	TP63	ORPHA:1896
HP:0011495	Abnormal corneal epithelium morphology	242	ALOX12B	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	204219	CERS3	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	26154	ABCA12	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	285848	PNPLA1	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	59344	ALOXE3	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	348938	NIPAL4	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	7051	TGM1	ORPHA:79394
HP:0011495	Abnormal corneal epithelium morphology	9244	CRLF1	OMIM:272430
HP:0011495	Abnormal corneal epithelium morphology	2068	ERCC2	OMIM:278730
HP:0011495	Abnormal corneal epithelium morphology	2068	ERCC2	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	2071	ERCC3	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	2072	ERCC4	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	2073	ERCC5	ORPHA:910
HP:0011495	Abnormal corneal epithelium morphology	1288	COL4A6	ORPHA:1018
HP:0011495	Abnormal corneal epithelium morphology	1287	COL4A5	ORPHA:1018
HP:0011495	Abnormal corneal epithelium morphology	8518	ELP1	OMIM:223900
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	ORPHA:98960
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	OMIM:121820
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	ORPHA:98962
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	ORPHA:98963
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	OMIM:122200
HP:0011495	Abnormal corneal epithelium morphology	7045	TGFBI	ORPHA:98964
HP:0011495	Abnormal corneal epithelium morphology	1497	CTNS	OMIM:219800
HP:0011495	Abnormal corneal epithelium morphology	51360	MBTPS2	OMIM:308205
HP:0011495	Abnormal corneal epithelium morphology	4166	CHST6	OMIM:217800
HP:0011495	Abnormal corneal epithelium morphology	4166	CHST6	ORPHA:98969
HP:0011495	Abnormal corneal epithelium morphology	2303	FOXC2	OMIM:153400
HP:0011495	Abnormal corneal epithelium morphology	4358	MPV17	OMIM:256810
HP:0011495	Abnormal corneal epithelium morphology	2263	FGFR2	OMIM:149730
HP:0011495	Abnormal corneal epithelium morphology	2263	FGFR2	ORPHA:2363
HP:0011495	Abnormal corneal epithelium morphology	4914	NTRK1	OMIM:256800
HP:0011495	Abnormal corneal epithelium morphology	2706	GJB2	OMIM:148210
HP:0011495	Abnormal corneal epithelium morphology	2261	FGFR3	ORPHA:2363
HP:0011495	Abnormal corneal epithelium morphology	2255	FGF10	ORPHA:2363
HP:0011495	Abnormal corneal epithelium morphology	3850	KRT3	OMIM:618767
HP:0011495	Abnormal corneal epithelium morphology	1308	COL17A1	ORPHA:293381
HP:0011495	Abnormal corneal epithelium morphology	3141	HLCS	ORPHA:79242
HP:0011495	Abnormal corneal epithelium morphology	326	AIRE	OMIM:240300
HP:0011495	Abnormal corneal epithelium morphology	6335	SCN9A	OMIM:133020
HP:0011495	Abnormal corneal epithelium morphology	54941	RNF125	OMIM:616260
HP:0011495	Abnormal corneal epithelium morphology	55699	IARS2	OMIM:616007
HP:0011495	Abnormal corneal epithelium morphology	404672	GTF2H5	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	833	CARS1	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	7737	RNF113A	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	136647	MPLKIP	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	136647	MPLKIP	OMIM:234050
HP:0011495	Abnormal corneal epithelium morphology	6897	TARS1	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	2961	GTF2E2	ORPHA:33364
HP:0011495	Abnormal corneal epithelium morphology	4081	MAB21L1	OMIM:618479
HP:0011495	Abnormal corneal epithelium morphology	3930	LBR	ORPHA:779
HP:0011495	Abnormal corneal epithelium morphology	2200	FBN1	OMIM:616914
HP:0011495	Abnormal corneal epithelium morphology	165	AEBP1	ORPHA:536532
HP:0011495	Abnormal corneal epithelium morphology	56244	BTNL2	ORPHA:797
HP:0011495	Abnormal corneal epithelium morphology	3123	HLA-DRB1	ORPHA:797
HP:0011495	Abnormal corneal epithelium morphology	149233	IL23R	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	6775	STAT4	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	3586	IL10	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	4210	MEFV	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	1230	CCR1	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	355	FAS	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	3592	IL12A	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	3106	HLA-B	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	7099	TLR4	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	3459	IFNGR1	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	720	C4A	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	337867	UBAC2	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	51752	ERAP1	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	8302	KLRC4	ORPHA:117
HP:0011495	Abnormal corneal epithelium morphology	6898	TAT	OMIM:276600
HP:0011495	Abnormal corneal epithelium morphology	4072	EPCAM	ORPHA:92050
HP:0011495	Abnormal corneal epithelium morphology	105371045	PERCC1	ORPHA:92050
HP:0011495	Abnormal corneal epithelium morphology	22861	NLRP1	OMIM:617388
HP:0011495	Abnormal corneal epithelium morphology	55768	NGLY1	OMIM:615273
HP:0011495	Abnormal corneal epithelium morphology	26128	KIFBP	OMIM:609460
HP:0011495	Abnormal corneal epithelium morphology	1161	ERCC8	ORPHA:90324
HP:0011495	Abnormal corneal epithelium morphology	59335	PRDM12	OMIM:616488
HP:0011495	Abnormal corneal epithelium morphology	7389	UROD	ORPHA:95159
HP:0011495	Abnormal corneal epithelium morphology	4547	MTTP	ORPHA:14
HP:0011495	Abnormal corneal epithelium morphology	4000	LMNA	ORPHA:740
HP:0011495	Abnormal corneal epithelium morphology	10269	ZMPSTE24	ORPHA:740
HP:0011495	Abnormal corneal epithelium morphology	2934	GSN	ORPHA:85448
HP:0011495	Abnormal corneal epithelium morphology	54101	RIPK4	OMIM:263650
HP:0011495	Abnormal corneal epithelium morphology	7390	UROS	ORPHA:79277
HP:0011495	Abnormal corneal epithelium morphology	2623	GATA1	ORPHA:79277
HP:0011495	Abnormal corneal epithelium morphology	10320	IKZF1	ORPHA:36426
HP:0011495	Abnormal corneal epithelium morphology	1285	COL4A3	OMIM:203780
HP:0011495	Abnormal corneal epithelium morphology	1286	COL4A4	OMIM:203780
HP:0011495	Abnormal corneal epithelium morphology	1634	DCN	OMIM:610048
HP:0011495	Abnormal corneal epithelium morphology	117581	TWIST2	ORPHA:920
HP:0011495	Abnormal corneal epithelium morphology	10653	SPINT2	OMIM:270420
HP:0011495	Abnormal corneal epithelium morphology	55630	SLC39A4	ORPHA:37
HP:0011495	Abnormal corneal epithelium morphology	4312	MMP1	ORPHA:79408
HP:0011495	Abnormal corneal epithelium morphology	1294	COL7A1	ORPHA:79408
HP:0011495	Abnormal corneal epithelium morphology	1294	COL7A1	ORPHA:79409
HP:0011495	Abnormal corneal epithelium morphology	1294	COL7A1	ORPHA:89842
HP:0011495	Abnormal corneal epithelium morphology	55612	FERMT1	OMIM:173650
HP:0011495	Abnormal corneal epithelium morphology	224	ALDH3A2	ORPHA:816
HP:0011495	Abnormal corneal epithelium morphology	5336	PLCG2	OMIM:614878
HP:0011495	Abnormal corneal epithelium morphology	7490	WT1	OMIM:106210
HP:0011495	Abnormal corneal epithelium morphology	11107	PRDM5	ORPHA:90354
HP:0011495	Abnormal corneal epithelium morphology	84627	ZNF469	ORPHA:90354
HP:0011496	Corneal neovascularization	6720	SREBF1	OMIM:158310
HP:0011496	Corneal neovascularization	10804	GJB6	ORPHA:477
HP:0011496	Corneal neovascularization	2706	GJB2	ORPHA:477
HP:0011496	Corneal neovascularization	51360	MBTPS2	OMIM:308205
HP:0011496	Corneal neovascularization	4921	DDR2	OMIM:618175
HP:0011496	Corneal neovascularization	22861	NLRP1	OMIM:617388
HP:0011496	Corneal neovascularization	22861	NLRP1	OMIM:615225
HP:0011496	Corneal neovascularization	1545	CYP1B1	OMIM:617315
HP:0011496	Corneal neovascularization	5080	PAX6	ORPHA:2334
HP:0011496	Corneal neovascularization	5080	PAX6	OMIM:106210
HP:0011496	Corneal neovascularization	2263	FGFR2	ORPHA:2363
HP:0011496	Corneal neovascularization	2261	FGFR3	ORPHA:2363
HP:0011496	Corneal neovascularization	2255	FGF10	ORPHA:2363
HP:0011496	Corneal neovascularization	1282	COL4A1	OMIM:175780
HP:0011496	Corneal neovascularization	55768	NGLY1	ORPHA:404454
HP:0011496	Corneal neovascularization	1312	COMT	ORPHA:567
HP:0011496	Corneal neovascularization	221037	JMJD1C	ORPHA:567
HP:0011496	Corneal neovascularization	2812	GP1BB	ORPHA:567
HP:0011496	Corneal neovascularization	6239	RREB1	ORPHA:567
HP:0011496	Corneal neovascularization	6899	TBX1	ORPHA:567
HP:0011496	Corneal neovascularization	7290	HIRA	ORPHA:567
HP:0011496	Corneal neovascularization	9632	SEC24C	ORPHA:567
HP:0011496	Corneal neovascularization	7353	UFD1	ORPHA:567
HP:0011496	Corneal neovascularization	421	ARVCF	ORPHA:567
HP:0011496	Corneal neovascularization	7490	WT1	OMIM:106210
HP:0011496	Corneal neovascularization	2068	ERCC2	OMIM:278730
HP:0000526	Aniridia	57167	SALL4	ORPHA:233
HP:0000526	Aniridia	9935	MAFB	ORPHA:233
HP:0000526	Aniridia	1123	CHN1	ORPHA:233
HP:0000526	Aniridia	64840	PORCN	OMIM:305600
HP:0000526	Aniridia	197257	LDHD	OMIM:245450
HP:0000526	Aniridia	5080	PAX6	ORPHA:250923
HP:0000526	Aniridia	5080	PAX6	ORPHA:2334
HP:0000526	Aniridia	5080	PAX6	ORPHA:1065
HP:0000526	Aniridia	5080	PAX6	OMIM:194072
HP:0000526	Aniridia	5080	PAX6	OMIM:106210
HP:0000526	Aniridia	2296	FOXC1	ORPHA:250923
HP:0000526	Aniridia	54765	TRIM44	ORPHA:250923
HP:0000526	Aniridia	54765	TRIM44	OMIM:617142
HP:0000526	Aniridia	7428	VHL	ORPHA:29072
HP:0000526	Aniridia	1743	DLST	ORPHA:29072
HP:0000526	Aniridia	4191	MDH2	ORPHA:29072
HP:0000526	Aniridia	5979	RET	ORPHA:29072
HP:0000526	Aniridia	6389	SDHA	ORPHA:29072
HP:0000526	Aniridia	23095	KIF1B	ORPHA:29072
HP:0000526	Aniridia	2271	FH	ORPHA:29072
HP:0000526	Aniridia	8402	SLC25A11	ORPHA:29072
HP:0000526	Aniridia	54949	SDHAF2	ORPHA:29072
HP:0000526	Aniridia	55654	TMEM127	ORPHA:29072
HP:0000526	Aniridia	4763	NF1	ORPHA:29072
HP:0000526	Aniridia	6391	SDHC	ORPHA:29072
HP:0000526	Aniridia	6392	SDHD	ORPHA:29072
HP:0000526	Aniridia	6390	SDHB	ORPHA:29072
HP:0000526	Aniridia	4149	MAX	ORPHA:29072
HP:0000526	Aniridia	3708	ITPR1	ORPHA:1065
HP:0000526	Aniridia	3708	ITPR1	OMIM:206700
HP:0000526	Aniridia	5308	PITX2	OMIM:180500
HP:0000526	Aniridia	26610	ELP4	OMIM:617141
HP:0000526	Aniridia	2301	FOXE3	OMIM:610256
HP:0000526	Aniridia	1750	DLX6	ORPHA:2440
HP:0000526	Aniridia	7979	SEM1	ORPHA:2440
HP:0000526	Aniridia	8945	BTRC	ORPHA:2440
HP:0000526	Aniridia	8626	TP63	ORPHA:2440
HP:0000526	Aniridia	58513	EPS15L1	ORPHA:2440
HP:0000526	Aniridia	6468	FBXW4	ORPHA:2440
HP:0000526	Aniridia	7480	WNT10B	ORPHA:2440
HP:0000526	Aniridia	1749	DLX5	ORPHA:2440
HP:0000526	Aniridia	7490	WT1	OMIM:194072
HP:0000526	Aniridia	7490	WT1	OMIM:106210
HP:0000526	Aniridia	7490	WT1	ORPHA:654
HP:0000526	Aniridia	5978	REST	ORPHA:654
HP:0000526	Aniridia	129563	DIS3L2	ORPHA:654
HP:0000526	Aniridia	675	BRCA2	ORPHA:654
HP:0000526	Aniridia	9319	TRIP13	ORPHA:654
HP:0000526	Aniridia	10155	TRIM28	ORPHA:654
HP:0000526	Aniridia	11281	POU6F2	ORPHA:654
HP:0000526	Aniridia	2719	GPC3	ORPHA:654
HP:0000526	Aniridia	283120	H19	ORPHA:654
HP:0000526	Aniridia	63901	FAM111A	OMIM:602361
HP:0011499	Mydriasis	4016	LOXL1	OMIM:177650
HP:0011499	Mydriasis	4629	MYH11	OMIM:619351
HP:0011499	Mydriasis	10398	MYL9	OMIM:619365
HP:0011499	Mydriasis	79639	TMEM53	OMIM:619727
HP:0011499	Mydriasis	773	CACNA1A	ORPHA:2131
HP:0011499	Mydriasis	6507	SLC1A3	ORPHA:2131
HP:0011499	Mydriasis	477	ATP1A2	ORPHA:2131
HP:0011499	Mydriasis	478	ATP1A3	ORPHA:2131
HP:0011499	Mydriasis	59	ACTA2	OMIM:613834
HP:0011499	Mydriasis	8314	BAP1	ORPHA:39044
HP:0011499	Mydriasis	57105	CYSLTR2	ORPHA:39044
HP:0011499	Mydriasis	2776	GNAQ	ORPHA:39044
HP:0011499	Mydriasis	2767	GNA11	ORPHA:39044
HP:0011499	Mydriasis	23451	SF3B1	ORPHA:39044
HP:0011499	Mydriasis	5192	PEX10	ORPHA:247815
HP:0011499	Mydriasis	28962	OSTM1	OMIM:259720
HP:0011494	Generalized opacification of the cornea	7045	TGFBI	OMIM:121900
HP:0008435	Absent in utero ossification of vertebral bodies	168667	BMPER	OMIM:608022
HP:0008437	Bifid thoracic vertebrae	6223	RPS19	OMIM:105650
HP:0008436	Absent/hypoplastic coccyx	2517	FUCA1	OMIM:230000
HP:0008439	Lumbar hemivertebrae	10606	PAICS	OMIM:619859
HP:0008439	Lumbar hemivertebrae	2260	FGFR1	OMIM:190440
HP:0008439	Lumbar hemivertebrae	1984	EIF5A	OMIM:619376
HP:0008438	Vertebral arch anomaly	100151683	RNU4ATAC	OMIM:210710
HP:0008438	Vertebral arch anomaly	182	JAG1	OMIM:118450
HP:0008438	Vertebral arch anomaly	4089	SMAD4	OMIM:139210
HP:0008438	Vertebral arch anomaly	29123	ANKRD11	OMIM:148050
HP:0008438	Vertebral arch anomaly	9469	CHST3	OMIM:143095
HP:0008438	Vertebral arch anomaly	10236	HNRNPR	OMIM:620073
HP:0008438	Vertebral arch anomaly	5573	PRKAR1A	ORPHA:280651
HP:0008438	Vertebral arch anomaly	5573	PRKAR1A	OMIM:101800
HP:0008438	Vertebral arch anomaly	5144	PDE4D	ORPHA:280651
HP:0008438	Vertebral arch anomaly	6023	RMRP	OMIM:250250
HP:0008438	Vertebral arch anomaly	65992	DDRGK1	OMIM:602557
HP:0008438	Vertebral arch anomaly	65992	DDRGK1	ORPHA:93352
HP:0008438	Vertebral arch anomaly	4054	LTBP3	OMIM:601216
HP:0008438	Vertebral arch anomaly	23169	SLC35D1	OMIM:269250
HP:0008438	Vertebral arch anomaly	23233	EXOC6B	OMIM:618395
HP:0008438	Vertebral arch anomaly	4796	TONSL	OMIM:271510
HP:0008438	Vertebral arch anomaly	3835	KIF22	OMIM:603546
HP:0008438	Vertebral arch anomaly	79158	GNPTAB	OMIM:252500
HP:0008438	Vertebral arch anomaly	4882	NPR2	OMIM:602875
HP:0008438	Vertebral arch anomaly	2261	FGFR3	OMIM:146000
HP:0008440	C1-C2 vertebral abnormality	4921	DDR2	OMIM:271665
HP:0008440	C1-C2 vertebral abnormality	3425	IDUA	OMIM:607014
HP:0008440	C1-C2 vertebral abnormality	8567	MADD	OMIM:619004
HP:0008440	C1-C2 vertebral abnormality	415	ARSL	ORPHA:79345
HP:0008440	C1-C2 vertebral abnormality	4313	MMP2	OMIM:259600
HP:0008440	C1-C2 vertebral abnormality	2335	FN1	ORPHA:93315
HP:0008440	C1-C2 vertebral abnormality	1280	COL2A1	ORPHA:93315
HP:0008440	C1-C2 vertebral abnormality	6497	SKI	OMIM:182212
HP:0008441	Herniation of intervertebral nuclei	4054	LTBP3	OMIM:601216
HP:0008441	Herniation of intervertebral nuclei	6885	MAP3K7	OMIM:157800
HP:0008442	Vertebral hyperostosis	5251	PHEX	ORPHA:89936
HP:0008442	Vertebral hyperostosis	2697	GJA1	OMIM:164200
HP:0008443	Neuropathic spinal arthropathy	2131	EXT1	ORPHA:321
HP:0008443	Neuropathic spinal arthropathy	2132	EXT2	ORPHA:321
HP:0008443	Neuropathic spinal arthropathy	10682	EBP	ORPHA:35173
HP:0008443	Neuropathic spinal arthropathy	29925	GMPPB	ORPHA:370968
HP:0008443	Neuropathic spinal arthropathy	79147	FKRP	ORPHA:370968
HP:0008443	Neuropathic spinal arthropathy	29954	POMT2	ORPHA:370968
HP:0008443	Neuropathic spinal arthropathy	9215	LARGE1	ORPHA:370968
HP:0008443	Neuropathic spinal arthropathy	10585	POMT1	ORPHA:370968
HP:0008443	Neuropathic spinal arthropathy	54332	GDAP1	OMIM:607706
HP:0008443	Neuropathic spinal arthropathy	54332	GDAP1	ORPHA:99948
HP:0008443	Neuropathic spinal arthropathy	60482	SLC5A7	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	4649	MYO9A	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	1305	COL13A1	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	1103	CHAT	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	6576	SLC25A1	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	6843	VAMP1	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	375790	AGRN	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	127833	SYT2	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	6572	SLC18A3	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	6616	SNAP25	ORPHA:98914
HP:0008443	Neuropathic spinal arthropathy	79628	SH3TC2	ORPHA:99949
HP:0008443	Neuropathic spinal arthropathy	10020	GNE	ORPHA:3166
HP:0008443	Neuropathic spinal arthropathy	92667	MGME1	OMIM:615084
HP:0008443	Neuropathic spinal arthropathy	92667	MGME1	ORPHA:352447
HP:0008443	Neuropathic spinal arthropathy	57231	SNX14	ORPHA:397709
HP:0008444	Posterior wedging of vertebral bodies	10484	SEC23A	OMIM:607812
HP:0008444	Posterior wedging of vertebral bodies	10484	SEC23A	ORPHA:50814
HP:0008444	Posterior wedging of vertebral bodies	10940	POP1	OMIM:617396
HP:0001281	Tetany	140803	TRPM6	OMIM:602014
HP:0001281	Tetany	846	CASR	OMIM:601198
HP:0001281	Tetany	6899	TBX1	OMIM:188400
HP:0001281	Tetany	6899	TBX1	ORPHA:567
HP:0001281	Tetany	6557	SLC12A1	OMIM:601678
HP:0001281	Tetany	6905	TBCE	OMIM:244460
HP:0001281	Tetany	6905	TBCE	OMIM:241410
HP:0001281	Tetany	3758	KCNJ1	OMIM:241200
HP:0001281	Tetany	1594	CYP27B1	ORPHA:289157
HP:0001281	Tetany	120227	CYP2R1	ORPHA:289157
HP:0001281	Tetany	10312	TCIRG1	OMIM:259700
HP:0001281	Tetany	5741	PTH	OMIM:146200
HP:0001281	Tetany	2625	GATA3	OMIM:146255
HP:0001281	Tetany	10686	CLDN16	OMIM:248250
HP:0001281	Tetany	6559	SLC12A3	OMIM:263800
HP:0001281	Tetany	1312	COMT	ORPHA:567
HP:0001281	Tetany	221037	JMJD1C	ORPHA:567
HP:0001281	Tetany	2812	GP1BB	ORPHA:567
HP:0001281	Tetany	6239	RREB1	ORPHA:567
HP:0001281	Tetany	7290	HIRA	ORPHA:567
HP:0001281	Tetany	9632	SEC24C	ORPHA:567
HP:0001281	Tetany	7353	UFD1	ORPHA:567
HP:0001281	Tetany	421	ARVCF	ORPHA:567
HP:0001281	Tetany	58528	RRAGD	OMIM:620152
HP:0001284	Areflexia	9131	AIFM1	ORPHA:238329
HP:0001284	Areflexia	9131	AIFM1	ORPHA:101078
HP:0001284	Areflexia	9131	AIFM1	OMIM:300614
HP:0001284	Areflexia	9131	AIFM1	OMIM:300816
HP:0001284	Areflexia	4359	MPZ	OMIM:618184
HP:0001284	Areflexia	4359	MPZ	OMIM:180800
HP:0001284	Areflexia	4359	MPZ	ORPHA:3115
HP:0001284	Areflexia	4359	MPZ	ORPHA:101082
HP:0001284	Areflexia	4359	MPZ	OMIM:118200
HP:0001284	Areflexia	4359	MPZ	OMIM:145900
HP:0001284	Areflexia	4359	MPZ	OMIM:607677
HP:0001284	Areflexia	4359	MPZ	OMIM:607791
HP:0001284	Areflexia	4359	MPZ	OMIM:607736
HP:0001284	Areflexia	91574	MTRFR	ORPHA:254930
HP:0001284	Areflexia	91574	MTRFR	OMIM:613559
HP:0001284	Areflexia	5376	PMP22	OMIM:118300
HP:0001284	Areflexia	5376	PMP22	OMIM:180800
HP:0001284	Areflexia	5376	PMP22	ORPHA:3115
HP:0001284	Areflexia	5376	PMP22	OMIM:118220
HP:0001284	Areflexia	5376	PMP22	OMIM:145900
HP:0001284	Areflexia	3094	HINT1	ORPHA:324442
HP:0001284	Areflexia	6834	SURF1	OMIM:616684
HP:0001284	Areflexia	8506	CNTNAP1	OMIM:618186
HP:0001284	Areflexia	8506	CNTNAP1	OMIM:616286
HP:0001284	Areflexia	59341	TRPV4	OMIM:606071
HP:0001284	Areflexia	59341	TRPV4	OMIM:600175
HP:0001284	Areflexia	59341	TRPV4	OMIM:181405
HP:0001284	Areflexia	22880	MORC2	OMIM:616688
HP:0001284	Areflexia	22880	MORC2	OMIM:619090
HP:0001284	Areflexia	1161	ERCC8	ORPHA:90324
HP:0001284	Areflexia	2074	ERCC6	ORPHA:90324
HP:0001284	Areflexia	2074	ERCC6	OMIM:278800
HP:0001284	Areflexia	10059	DNM1L	OMIM:614388
HP:0001284	Areflexia	10059	DNM1L	ORPHA:98673
HP:0001284	Areflexia	50717	DCAF8	OMIM:610100
HP:0001284	Areflexia	400916	CHCHD10	OMIM:615911
HP:0001284	Areflexia	400916	CHCHD10	OMIM:615048
HP:0001284	Areflexia	400916	CHCHD10	ORPHA:276435
HP:0001284	Areflexia	55775	TDP1	ORPHA:94124
HP:0001284	Areflexia	55775	TDP1	OMIM:607250
HP:0001284	Areflexia	5830	PEX5	OMIM:214110
HP:0001284	Areflexia	79581	SLC52A2	OMIM:614707
HP:0001284	Areflexia	5428	POLG	ORPHA:94125
HP:0001284	Areflexia	5428	POLG	ORPHA:726
HP:0001284	Areflexia	5428	POLG	OMIM:607459
HP:0001284	Areflexia	5428	POLG	OMIM:258450
HP:0001284	Areflexia	5428	POLG	OMIM:603041
HP:0001284	Areflexia	5428	POLG	ORPHA:70595
HP:0001284	Areflexia	3190	HNRNPK	ORPHA:453504
HP:0001284	Areflexia	3190	HNRNPK	ORPHA:352665
HP:0001284	Areflexia	5339	PLEC	ORPHA:254361
HP:0001284	Areflexia	7879	RAB7A	OMIM:600882
HP:0001284	Areflexia	5631	PRPS1	ORPHA:99014
HP:0001284	Areflexia	5631	PRPS1	ORPHA:1187
HP:0001284	Areflexia	5631	PRPS1	OMIM:301835
HP:0001284	Areflexia	2617	GARS1	OMIM:619042
HP:0001284	Areflexia	54332	GDAP1	OMIM:607831
HP:0001284	Areflexia	54332	GDAP1	OMIM:607706
HP:0001284	Areflexia	54332	GDAP1	ORPHA:101097
HP:0001284	Areflexia	54332	GDAP1	OMIM:608340
HP:0001284	Areflexia	54332	GDAP1	ORPHA:99948
HP:0001284	Areflexia	54332	GDAP1	OMIM:214400
HP:0001284	Areflexia	56704	JPH1	OMIM:607831
HP:0001284	Areflexia	58	ACTA1	ORPHA:171433
HP:0001284	Areflexia	58	ACTA1	ORPHA:2020
HP:0001284	Areflexia	58	ACTA1	OMIM:161800
HP:0001284	Areflexia	58	ACTA1	ORPHA:171439
HP:0001284	Areflexia	58	ACTA1	OMIM:616852
HP:0001284	Areflexia	4703	NEB	ORPHA:171433
HP:0001284	Areflexia	4703	NEB	ORPHA:171439
HP:0001284	Areflexia	4703	NEB	OMIM:256030
HP:0001284	Areflexia	10324	KLHL41	ORPHA:171433
HP:0001284	Areflexia	10324	KLHL41	ORPHA:171439
HP:0001284	Areflexia	7170	TPM3	ORPHA:171433
HP:0001284	Areflexia	7170	TPM3	ORPHA:2020
HP:0001284	Areflexia	7170	TPM3	ORPHA:171439
HP:0001284	Areflexia	8566	PDXK	OMIM:618511
HP:0001284	Areflexia	200205	IBA57	OMIM:616451
HP:0001284	Areflexia	6616	SNAP25	OMIM:616330
HP:0001284	Areflexia	6616	SNAP25	ORPHA:98914
HP:0001284	Areflexia	1785	DNM2	OMIM:615368
HP:0001284	Areflexia	1785	DNM2	OMIM:160150
HP:0001284	Areflexia	1785	DNM2	OMIM:606482
HP:0001284	Areflexia	84466	MEGF10	OMIM:614399
HP:0001284	Areflexia	16	AARS1	OMIM:616339
HP:0001284	Areflexia	16	AARS1	OMIM:619691
HP:0001284	Areflexia	16	AARS1	OMIM:613287
HP:0001284	Areflexia	9200	HACD1	OMIM:619967
HP:0001284	Areflexia	9200	HACD1	ORPHA:2020
HP:0001284	Areflexia	5189	PEX1	OMIM:214100
HP:0001284	Areflexia	29925	GMPPB	ORPHA:353327
HP:0001284	Areflexia	2673	GFPT1	ORPHA:353327
HP:0001284	Areflexia	1798	DPAGT1	ORPHA:353327
HP:0001284	Areflexia	85365	ALG2	ORPHA:353327
HP:0001284	Areflexia	199857	ALG14	ORPHA:353327
HP:0001284	Areflexia	23250	ATP11A	OMIM:619851
HP:0001284	Areflexia	23321	TRIM2	OMIM:615490
HP:0001284	Areflexia	4358	MPV17	OMIM:618400
HP:0001284	Areflexia	4358	MPV17	OMIM:256810
HP:0001284	Areflexia	57449	PLEKHG5	OMIM:615376
HP:0001284	Areflexia	57449	PLEKHG5	OMIM:611067
HP:0001284	Areflexia	1020	CDK5	OMIM:616342
HP:0001284	Areflexia	274	BIN1	OMIM:255200
HP:0001284	Areflexia	274	BIN1	ORPHA:169186
HP:0001284	Areflexia	1272	CNTN1	OMIM:612540
HP:0001284	Areflexia	9692	PRORP	OMIM:619737
HP:0001284	Areflexia	6261	RYR1	OMIM:255320
HP:0001284	Areflexia	6261	RYR1	ORPHA:169186
HP:0001284	Areflexia	6261	RYR1	ORPHA:424107
HP:0001284	Areflexia	22954	TRIM32	OMIM:254110
HP:0001284	Areflexia	966	CD59	OMIM:612300
HP:0001284	Areflexia	311	ANXA11	OMIM:619733
HP:0001284	Areflexia	55681	SCYL2	OMIM:618766
HP:0001284	Areflexia	55681	SCYL2	ORPHA:1143
HP:0001284	Areflexia	29967	LRP12	OMIM:164310
HP:0001284	Areflexia	9570	GOSR2	OMIM:620166
HP:0001284	Areflexia	9570	GOSR2	OMIM:614018
HP:0001284	Areflexia	9499	MYOT	OMIM:609200
HP:0001284	Areflexia	8802	SUCLG1	OMIM:245400
HP:0001284	Areflexia	7274	TTPA	ORPHA:96
HP:0001284	Areflexia	7274	TTPA	OMIM:277460
HP:0001284	Areflexia	57190	SELENON	ORPHA:2020
HP:0001284	Areflexia	4633	MYL2	ORPHA:2020
HP:0001284	Areflexia	3679	ITGA7	ORPHA:2020
HP:0001284	Areflexia	7169	TPM2	ORPHA:2020
HP:0001284	Areflexia	7169	TPM2	ORPHA:171439
HP:0001284	Areflexia	51776	MAP3K20	ORPHA:2020
HP:0001284	Areflexia	1303	COL12A1	OMIM:616470
HP:0001284	Areflexia	1303	COL12A1	ORPHA:536516
HP:0001284	Areflexia	478	ATP1A3	ORPHA:1171
HP:0001284	Areflexia	478	ATP1A3	ORPHA:2131
HP:0001284	Areflexia	478	ATP1A3	OMIM:601338
HP:0001284	Areflexia	3735	KARS1	OMIM:613641
HP:0001284	Areflexia	93627	TBCK	ORPHA:488632
HP:0001284	Areflexia	4632	MYL1	OMIM:618414
HP:0001284	Areflexia	54840	APTX	OMIM:208920
HP:0001284	Areflexia	79731	NARS2	OMIM:616239
HP:0001284	Areflexia	5193	PEX12	OMIM:614859
HP:0001284	Areflexia	5193	PEX12	OMIM:266510
HP:0001284	Areflexia	9896	FIG4	OMIM:611228
HP:0001284	Areflexia	4747	NEFL	ORPHA:101085
HP:0001284	Areflexia	4747	NEFL	OMIM:607684
HP:0001284	Areflexia	4747	NEFL	OMIM:607734
HP:0001284	Areflexia	4747	NEFL	OMIM:617882
HP:0001284	Areflexia	9927	MFN2	OMIM:601152
HP:0001284	Areflexia	9927	MFN2	OMIM:609260
HP:0001284	Areflexia	5373	PMM2	OMIM:212065
HP:0001284	Areflexia	121512	FGD4	OMIM:609311
HP:0001284	Areflexia	3475	IFRD1	ORPHA:98771
HP:0001284	Areflexia	5621	PRNP	ORPHA:356
HP:0001284	Areflexia	5621	PRNP	OMIM:137440
HP:0001284	Areflexia	9895	TECPR2	OMIM:615031
HP:0001284	Areflexia	9895	TECPR2	ORPHA:320385
HP:0001284	Areflexia	23533	PIK3R5	ORPHA:64753
HP:0001284	Areflexia	23533	PIK3R5	OMIM:615217
HP:0001284	Areflexia	23064	SETX	ORPHA:64753
HP:0001284	Areflexia	23064	SETX	OMIM:606002
HP:0001284	Areflexia	57863	CADM3	OMIM:619519
HP:0001284	Areflexia	92609	TIMM50	OMIM:617698
HP:0001284	Areflexia	5828	PEX2	OMIM:614866
HP:0001284	Areflexia	773	CACNA1A	ORPHA:2131
HP:0001284	Areflexia	6507	SLC1A3	ORPHA:2131
HP:0001284	Areflexia	477	ATP1A2	ORPHA:2131
HP:0001284	Areflexia	10290	SPEG	OMIM:615959
HP:0001284	Areflexia	10290	SPEG	ORPHA:169186
HP:0001284	Areflexia	8659	ALDH4A1	ORPHA:79101
HP:0001284	Areflexia	2705	GJB1	ORPHA:101075
HP:0001284	Areflexia	9990	SLC12A6	OMIM:620068
HP:0001284	Areflexia	9990	SLC12A6	OMIM:218000
HP:0001284	Areflexia	4952	OCRL	OMIM:309000
HP:0001284	Areflexia	4952	OCRL	ORPHA:534
HP:0001284	Areflexia	25894	PLEKHG4	ORPHA:98765
HP:0001284	Areflexia	10908	PNPLA6	OMIM:215470
HP:0001284	Areflexia	10613	ERLIN1	ORPHA:401785
HP:0001284	Areflexia	4311	MME	ORPHA:497764
HP:0001284	Areflexia	4311	MME	OMIM:617017
HP:0001284	Areflexia	23175	LPIN1	OMIM:268200
HP:0001284	Areflexia	64419	MTMR14	OMIM:160150
HP:0001284	Areflexia	6305	SBF1	OMIM:615284
HP:0001284	Areflexia	23095	KIF1B	OMIM:118210
HP:0001284	Areflexia	2548	GAA	ORPHA:308552
HP:0001284	Areflexia	2548	GAA	OMIM:232300
HP:0001284	Areflexia	7358	UGDH	OMIM:618792
HP:0001284	Areflexia	5192	PEX10	OMIM:614871
HP:0001284	Areflexia	163175	LGI4	OMIM:617468
HP:0001284	Areflexia	10342	TFG	ORPHA:90117
HP:0001284	Areflexia	10342	TFG	OMIM:604484
HP:0001284	Areflexia	51128	SAR1B	ORPHA:71
HP:0001284	Areflexia	8565	YARS1	OMIM:608323
HP:0001284	Areflexia	91949	COG7	ORPHA:79333
HP:0001284	Areflexia	56652	TWNK	OMIM:271245
HP:0001284	Areflexia	56652	TWNK	OMIM:607459
HP:0001284	Areflexia	56652	TWNK	OMIM:609286
HP:0001284	Areflexia	56652	TWNK	ORPHA:70595
HP:0001284	Areflexia	57104	PNPLA2	OMIM:610717
HP:0001284	Areflexia	57104	PNPLA2	ORPHA:98908
HP:0001284	Areflexia	23299	BICD2	OMIM:615290
HP:0001284	Areflexia	5981	RFC1	ORPHA:504476
HP:0001284	Areflexia	9342	SNAP29	OMIM:609528
HP:0001284	Areflexia	9342	SNAP29	ORPHA:66631
HP:0001284	Areflexia	6843	VAMP1	OMIM:618323
HP:0001284	Areflexia	6843	VAMP1	ORPHA:98914
HP:0001284	Areflexia	11284	PNKP	OMIM:616267
HP:0001284	Areflexia	11284	PNKP	OMIM:605589
HP:0001284	Areflexia	3300	DNAJB2	OMIM:614881
HP:0001284	Areflexia	10743	RAI1	OMIM:182290
HP:0001284	Areflexia	729920	CRPPA	OMIM:614643
HP:0001284	Areflexia	729920	CRPPA	ORPHA:899
HP:0001284	Areflexia	8504	PEX3	OMIM:614882
HP:0001284	Areflexia	7317	UBA1	ORPHA:1145
HP:0001284	Areflexia	7317	UBA1	OMIM:301830
HP:0001284	Areflexia	23219	FBXO28	OMIM:619777
HP:0001284	Areflexia	84665	MYPN	ORPHA:171439
HP:0001284	Areflexia	390594	KBTBD13	ORPHA:171439
HP:0001284	Areflexia	84570	COL25A1	ORPHA:1143
HP:0001284	Areflexia	57222	ERGIC1	ORPHA:1143
HP:0001284	Areflexia	5195	PEX14	OMIM:614887
HP:0001284	Areflexia	26353	HSPB8	OMIM:608673
HP:0001284	Areflexia	23479	ISCU	OMIM:255125
HP:0001284	Areflexia	3098	HK1	ORPHA:99953
HP:0001284	Areflexia	3098	HK1	OMIM:605285
HP:0001284	Areflexia	54463	RETREG1	OMIM:201300
HP:0001284	Areflexia	54463	RETREG1	OMIM:613115
HP:0001284	Areflexia	65125	WNK1	OMIM:201300
HP:0001284	Areflexia	6335	SCN9A	OMIM:201300
HP:0001284	Areflexia	547	KIF1A	OMIM:201300
HP:0001284	Areflexia	91137	SLC25A46	OMIM:619303
HP:0001284	Areflexia	91137	SLC25A46	OMIM:616505
HP:0001284	Areflexia	667	DST	OMIM:614653
HP:0001284	Areflexia	57716	PRX	OMIM:614895
HP:0001284	Areflexia	57716	PRX	OMIM:145900
HP:0001284	Areflexia	1337	COX6A1	OMIM:616039
HP:0001284	Areflexia	23590	PDSS1	OMIM:614651
HP:0001284	Areflexia	5081	PAX7	OMIM:618578
HP:0001284	Areflexia	79628	SH3TC2	ORPHA:99949
HP:0001284	Areflexia	4000	LMNA	ORPHA:98856
HP:0001284	Areflexia	4000	LMNA	OMIM:605588
HP:0001284	Areflexia	1959	EGR2	OMIM:145900
HP:0001284	Areflexia	1959	EGR2	OMIM:605253
HP:0001284	Areflexia	56052	ALG1	OMIM:608540
HP:0001284	Areflexia	6310	ATXN1	OMIM:164400
HP:0001284	Areflexia	8729	GBF1	OMIM:606483
HP:0001284	Areflexia	7273	TTN	ORPHA:169186
HP:0001284	Areflexia	9488	PIGB	OMIM:618580
HP:0001284	Areflexia	353116	RILPL1	OMIM:619790
HP:0001284	Areflexia	4141	MARS1	OMIM:616280
HP:0001284	Areflexia	127833	SYT2	OMIM:616040
HP:0001284	Areflexia	127833	SYT2	OMIM:619461
HP:0001284	Areflexia	127833	SYT2	ORPHA:98914
HP:0001284	Areflexia	80207	OPA3	ORPHA:67036
HP:0001284	Areflexia	112	ADCY6	OMIM:616287
HP:0001284	Areflexia	270	AMPD1	OMIM:615511
HP:0001284	Areflexia	79912	PYROXD1	OMIM:617258
HP:0001284	Areflexia	10397	NDRG1	OMIM:601455
HP:0001284	Areflexia	91942	NDUFAF2	OMIM:618233
HP:0001284	Areflexia	63895	PIEZO2	OMIM:617146
HP:0001284	Areflexia	50	ACO2	OMIM:614559
HP:0001284	Areflexia	90678	LRSAM1	OMIM:614436
HP:0001284	Areflexia	84892	POMGNT2	ORPHA:899
HP:0001284	Areflexia	148789	B3GALNT2	ORPHA:899
HP:0001284	Areflexia	79147	FKRP	ORPHA:899
HP:0001284	Areflexia	29954	POMT2	ORPHA:899
HP:0001284	Areflexia	29954	POMT2	OMIM:613156
HP:0001284	Areflexia	9215	LARGE1	ORPHA:899
HP:0001284	Areflexia	9215	LARGE1	OMIM:613154
HP:0001284	Areflexia	1282	COL4A1	ORPHA:899
HP:0001284	Areflexia	10329	RXYLT1	ORPHA:899
HP:0001284	Areflexia	1605	DAG1	ORPHA:899
HP:0001284	Areflexia	11041	B4GAT1	ORPHA:899
HP:0001284	Areflexia	10585	POMT1	ORPHA:899
HP:0001284	Areflexia	84197	POMK	ORPHA:899
HP:0001284	Areflexia	2218	FKTN	ORPHA:899
HP:0001284	Areflexia	2218	FKTN	OMIM:253800
HP:0001284	Areflexia	55624	POMGNT1	ORPHA:899
HP:0001284	Areflexia	6904	TBCD	ORPHA:496641
HP:0001284	Areflexia	427	ASAH1	OMIM:159950
HP:0001284	Areflexia	4976	OPA1	ORPHA:98673
HP:0001284	Areflexia	25929	GEMIN5	OMIM:619333
HP:0001284	Areflexia	28982	FLVCR1	ORPHA:88628
HP:0001284	Areflexia	28982	FLVCR1	OMIM:609033
HP:0001284	Areflexia	55906	ZC4H2	OMIM:314580
HP:0001284	Areflexia	23345	SYNE1	OMIM:618484
HP:0001284	Areflexia	51008	ASCC1	OMIM:616867
HP:0001284	Areflexia	100134444	KCNJ18	OMIM:613239
HP:0001284	Areflexia	9325	TRIP4	OMIM:616866
HP:0001284	Areflexia	3913	LAMB2	OMIM:609049
HP:0001284	Areflexia	3913	LAMB2	ORPHA:98915
HP:0001284	Areflexia	6606	SMN1	OMIM:253300
HP:0001284	Areflexia	4547	MTTP	ORPHA:14
HP:0001284	Areflexia	9217	VAPB	OMIM:608627
HP:0001284	Areflexia	51305	KCNK9	ORPHA:166108
HP:0001284	Areflexia	64423	INF2	OMIM:614455
HP:0001284	Areflexia	3908	LAMA2	OMIM:618138
HP:0001284	Areflexia	3908	LAMA2	OMIM:607855
HP:0001284	Areflexia	89874	SLC25A21	OMIM:618811
HP:0001284	Areflexia	2065	ERBB3	OMIM:243180
HP:0001284	Areflexia	81790	RNF170	OMIM:608984
HP:0001284	Areflexia	64374	SIL1	ORPHA:559
HP:0001284	Areflexia	51763	INPP5K	ORPHA:559
HP:0001284	Areflexia	10755	GIPC1	ORPHA:98897
HP:0001284	Areflexia	100996717	NOTCH2NLC	ORPHA:98897
HP:0001284	Areflexia	81857	MED25	OMIM:605589
HP:0001284	Areflexia	79784	MYH14	ORPHA:397744
HP:0001284	Areflexia	953	ENTPD1	ORPHA:401810
HP:0001284	Areflexia	340075	ARSI	ORPHA:401815
HP:0001284	Areflexia	4576	MT-TT	ORPHA:254857
HP:0001284	Areflexia	8087	FXR1	OMIM:618822
HP:0001284	Areflexia	8087	FXR1	OMIM:618823
HP:0001284	Areflexia	1890	TYMP	OMIM:603041
HP:0001284	Areflexia	3032	HADHB	ORPHA:746
HP:0001284	Areflexia	3030	HADHA	ORPHA:746
HP:0001284	Areflexia	3030	HADHA	OMIM:609015
HP:0001284	Areflexia	4534	MTM1	OMIM:310400
HP:0001284	Areflexia	26047	CNTNAP2	ORPHA:163681
HP:0001284	Areflexia	283446	MYO1H	OMIM:619482
HP:0001284	Areflexia	476	ATP1A1	OMIM:618036
HP:0001284	Areflexia	23230	VPS13A	OMIM:200150
HP:0001284	Areflexia	1806	DPYD	ORPHA:1675
HP:0001284	Areflexia	2273	FHL1	OMIM:300717
HP:0001284	Areflexia	3295	HSD17B4	OMIM:233400
HP:0001284	Areflexia	60482	SLC5A7	ORPHA:98914
HP:0001284	Areflexia	4649	MYO9A	ORPHA:98914
HP:0001284	Areflexia	1305	COL13A1	ORPHA:98914
HP:0001284	Areflexia	1103	CHAT	ORPHA:98914
HP:0001284	Areflexia	6576	SLC25A1	ORPHA:98914
HP:0001284	Areflexia	375790	AGRN	ORPHA:98914
HP:0001284	Areflexia	6572	SLC18A3	ORPHA:98914
HP:0001284	Areflexia	8292	COLQ	ORPHA:98915
HP:0001284	Areflexia	859	CAV3	ORPHA:488650
HP:0001284	Areflexia	6663	SOX10	OMIM:609136
HP:0001284	Areflexia	29929	ALG6	OMIM:603147
HP:0001284	Areflexia	10558	SPTLC1	OMIM:162400
HP:0001284	Areflexia	5528	PPP2R5D	ORPHA:457279
HP:0001284	Areflexia	51099	ABHD5	ORPHA:98907
HP:0001284	Areflexia	7515	XRCC1	OMIM:617633
HP:0001284	Areflexia	55005	RMND1	OMIM:614922
HP:0001284	Areflexia	8799	PEX11B	OMIM:614920
HP:0001284	Areflexia	1073	CFL2	OMIM:610687
HP:0001284	Areflexia	9997	SCO2	ORPHA:521411
HP:0001284	Areflexia	57731	SPTBN4	OMIM:617519
HP:0001284	Areflexia	8139	GAN	ORPHA:643
HP:0001284	Areflexia	8139	GAN	OMIM:256850
HP:0001284	Areflexia	129285	PPP1R21	OMIM:619383
HP:0001284	Areflexia	55331	ACER3	OMIM:617762
HP:0001284	Areflexia	79587	CARS2	OMIM:616672
HP:0001284	Areflexia	8398	PLA2G6	OMIM:256600
HP:0001284	Areflexia	8449	DHX16	OMIM:618733
HP:0001284	Areflexia	87178	PNPT1	ORPHA:101111
HP:0001284	Areflexia	87178	PNPT1	OMIM:608703
HP:0001284	Areflexia	3315	HSPB1	OMIM:608634
HP:0001284	Areflexia	3315	HSPB1	OMIM:606595
HP:0001284	Areflexia	51	ACOX1	OMIM:618960
HP:0001284	Areflexia	4099	MAG	OMIM:616680
HP:0001284	Areflexia	8888	MCM3AP	OMIM:618124
HP:0001284	Areflexia	2395	FXN	OMIM:229300
HP:0001284	Areflexia	2395	FXN	ORPHA:95
HP:0001284	Areflexia	246243	RNASEH1	ORPHA:329336
HP:0001284	Areflexia	2733	GLE1	OMIM:611890
HP:0001284	Areflexia	1674	DES	ORPHA:98909
HP:0001284	Areflexia	80208	SPG11	OMIM:616668
HP:0001284	Areflexia	4618	MYF6	ORPHA:169189
HP:0001284	Areflexia	5611	DNAJC3	OMIM:616192
HP:0001284	Areflexia	5611	DNAJC3	ORPHA:445062
HP:0001284	Areflexia	8557	TCAP	OMIM:601954
HP:0001284	Areflexia	80347	COASY	OMIM:615643
HP:0001284	Areflexia	8884	SLC5A6	OMIM:619903
HP:0001284	Areflexia	84876	ORAI1	OMIM:615883
HP:0001284	Areflexia	374393	FAM111B	OMIM:615704
HP:0001284	Areflexia	3710	ITPR3	OMIM:620111
HP:0001284	Areflexia	6786	STIM1	OMIM:160565
HP:0001284	Areflexia	291	SLC25A4	ORPHA:254892
HP:0001284	Areflexia	11232	POLG2	ORPHA:254892
HP:0001284	Areflexia	50484	RRM2B	ORPHA:254892
HP:0001284	Areflexia	1410	CRYAB	OMIM:608810
HP:0001284	Areflexia	4287	ATXN3	OMIM:109150
HP:0001284	Areflexia	57003	CCDC47	OMIM:618268
HP:0001284	Areflexia	8988	HSPB3	OMIM:613376
HP:0001284	Areflexia	7415	VCP	ORPHA:435387
HP:0001284	Areflexia	7415	VCP	OMIM:616687
HP:0001284	Areflexia	4361	MRE11	ORPHA:251347
HP:0001284	Areflexia	4361	MRE11	OMIM:604391
HP:0001284	Areflexia	5165	PDK3	OMIM:300905
HP:0001284	Areflexia	5165	PDK3	ORPHA:352675
HP:0001284	Areflexia	64837	KLC2	OMIM:609541
HP:0001284	Areflexia	10159	ATP6AP2	ORPHA:93952
HP:0001284	Areflexia	6607	SMN2	OMIM:253400
HP:0001284	Areflexia	55958	KLHL9	ORPHA:399081
HP:0001284	Areflexia	5375	PMP2	OMIM:618279
HP:0001284	Areflexia	23204	ARL6IP1	OMIM:615685
HP:0001284	Areflexia	65055	REEP1	OMIM:614751
HP:0001284	Areflexia	65055	REEP1	OMIM:620011
HP:0001284	Areflexia	3035	HARS1	ORPHA:488333
HP:0001284	Areflexia	3035	HARS1	OMIM:616625
HP:0001284	Areflexia	26278	SACS	OMIM:270550
HP:0001284	Areflexia	26278	SACS	ORPHA:98
HP:0001284	Areflexia	10280	SIGMAR1	OMIM:605726
HP:0001284	Areflexia	8878	SQSTM1	OMIM:617158
HP:0001284	Areflexia	5832	ALDH18A1	ORPHA:447757
HP:0001284	Areflexia	5832	ALDH18A1	ORPHA:447760
HP:0001284	Areflexia	10020	GNE	ORPHA:602
HP:0001284	Areflexia	2632	GBE1	OMIM:263570
HP:0001284	Areflexia	59345	GNB4	OMIM:615185
HP:0001284	Areflexia	7453	WARS1	OMIM:617721
HP:0001284	Areflexia	1861	TOR1A	OMIM:128100
HP:0001284	Areflexia	5700	PSMC1	OMIM:620071
HP:0001284	Areflexia	10516	FBLN5	OMIM:619764
HP:0001284	Areflexia	3977	LIFR	OMIM:601559
HP:0001284	Areflexia	3977	LIFR	ORPHA:3206
HP:0001284	Areflexia	22943	DKK1	ORPHA:268882
HP:0001284	Areflexia	6548	SLC9A1	OMIM:616291
HP:0001284	Areflexia	7504	XK	OMIM:300842
HP:0001284	Areflexia	81846	SBF2	ORPHA:99956
HP:0001284	Areflexia	3508	IGHMBP2	OMIM:616155
HP:0001284	Areflexia	182	JAG1	OMIM:619574
HP:0001284	Areflexia	81570	CLPB	OMIM:616271
HP:0001284	Areflexia	8291	DYSF	OMIM:254130
HP:0001284	Areflexia	8291	DYSF	ORPHA:45448
HP:0001284	Areflexia	5238	PGM3	ORPHA:443811
HP:0001287	Meningitis	26191	PTPN22	ORPHA:397
HP:0001287	Meningitis	26191	PTPN22	ORPHA:900
HP:0001287	Meningitis	3106	HLA-B	ORPHA:397
HP:0001287	Meningitis	3106	HLA-B	ORPHA:117
HP:0001287	Meningitis	3123	HLA-DRB1	ORPHA:397
HP:0001287	Meningitis	3123	HLA-DRB1	ORPHA:545
HP:0001287	Meningitis	8974	P4HA2	ORPHA:397
HP:0001287	Meningitis	64170	CARD9	OMIM:212050
HP:0001287	Meningitis	695	BTK	OMIM:300755
HP:0001287	Meningitis	695	BTK	ORPHA:47
HP:0001287	Meningitis	695	BTK	OMIM:307200
HP:0001287	Meningitis	54820	NDE1	ORPHA:2177
HP:0001287	Meningitis	7454	WAS	ORPHA:906
HP:0001287	Meningitis	7456	WIPF1	ORPHA:906
HP:0001287	Meningitis	1493	CTLA4	ORPHA:900
HP:0001287	Meningitis	3115	HLA-DPB1	ORPHA:900
HP:0001287	Meningitis	5657	PRTN3	ORPHA:900
HP:0001287	Meningitis	3113	HLA-DPA1	ORPHA:900
HP:0001287	Meningitis	1776	DNASE1L3	ORPHA:36412
HP:0001287	Meningitis	596	BCL2	ORPHA:545
HP:0001287	Meningitis	3492	IGH	ORPHA:545
HP:0001287	Meningitis	604	BCL6	ORPHA:545
HP:0001287	Meningitis	959	CD40LG	OMIM:308230
HP:0001287	Meningitis	4210	MEFV	ORPHA:342
HP:0001287	Meningitis	4210	MEFV	OMIM:249100
HP:0001287	Meningitis	4210	MEFV	ORPHA:117
HP:0001287	Meningitis	5551	PRF1	OMIM:603553
HP:0001287	Meningitis	5896	RAG1	OMIM:601457
HP:0001287	Meningitis	5897	RAG2	OMIM:601457
HP:0001287	Meningitis	58484	NLRC4	OMIM:616050
HP:0001287	Meningitis	3718	JAK3	OMIM:600802
HP:0001287	Meningitis	629	CFB	OMIM:615561
HP:0001287	Meningitis	3543	IGLL1	OMIM:613500
HP:0001287	Meningitis	3543	IGLL1	ORPHA:33110
HP:0001287	Meningitis	732	C8B	OMIM:613789
HP:0001287	Meningitis	29110	TBK1	OMIM:617900
HP:0001287	Meningitis	114548	NLRP3	OMIM:607115
HP:0001287	Meningitis	114548	NLRP3	ORPHA:1451
HP:0001287	Meningitis	1536	CYBB	ORPHA:379
HP:0001287	Meningitis	4688	NCF2	ORPHA:379
HP:0001287	Meningitis	1535	CYBA	ORPHA:379
HP:0001287	Meningitis	4689	NCF4	ORPHA:379
HP:0001287	Meningitis	653361	NCF1	ORPHA:379
HP:0001287	Meningitis	79415	CYBC1	ORPHA:379
HP:0001287	Meningitis	331	XIAP	OMIM:308240
HP:0001287	Meningitis	4068	SH2D1A	OMIM:308240
HP:0001287	Meningitis	2215	FCGR3B	ORPHA:464370
HP:0001287	Meningitis	23495	TNFRSF13B	OMIM:240500
HP:0001287	Meningitis	115650	TNFRSF13C	OMIM:240500
HP:0001287	Meningitis	1380	CR2	OMIM:240500
HP:0001287	Meningitis	29851	ICOS	OMIM:240500
HP:0001287	Meningitis	930	CD19	OMIM:240500
HP:0001287	Meningitis	7037	TFRC	OMIM:616740
HP:0001287	Meningitis	731	C8A	OMIM:613790
HP:0001287	Meningitis	57591	MRTFA	OMIM:618847
HP:0001287	Meningitis	50943	FOXP3	ORPHA:37042
HP:0001287	Meningitis	10095	ARPC1B	OMIM:617718
HP:0001287	Meningitis	81839	VANGL1	OMIM:600145
HP:0001287	Meningitis	7852	CXCR4	ORPHA:51636
HP:0001287	Meningitis	7098	TLR3	OMIM:613002
HP:0001287	Meningitis	721	C4B	OMIM:614379
HP:0001287	Meningitis	6688	SPI1	OMIM:619707
HP:0001287	Meningitis	6929	TCF3	ORPHA:33110
HP:0001287	Meningitis	973	CD79A	ORPHA:33110
HP:0001287	Meningitis	974	CD79B	ORPHA:33110
HP:0001287	Meningitis	3507	IGHM	ORPHA:33110
HP:0001287	Meningitis	29760	BLNK	ORPHA:33110
HP:0001287	Meningitis	5295	PIK3R1	ORPHA:33110
HP:0001287	Meningitis	56262	LRRC8A	ORPHA:33110
HP:0001287	Meningitis	149233	IL23R	ORPHA:117
HP:0001287	Meningitis	6775	STAT4	ORPHA:117
HP:0001287	Meningitis	3586	IL10	ORPHA:117
HP:0001287	Meningitis	1230	CCR1	ORPHA:117
HP:0001287	Meningitis	355	FAS	ORPHA:117
HP:0001287	Meningitis	3592	IL12A	ORPHA:117
HP:0001287	Meningitis	101928376	IL12A-AS1	ORPHA:117
HP:0001287	Meningitis	7099	TLR4	ORPHA:117
HP:0001287	Meningitis	3459	IFNGR1	ORPHA:117
HP:0001287	Meningitis	720	C4A	ORPHA:117
HP:0001287	Meningitis	337867	UBAC2	ORPHA:117
HP:0001287	Meningitis	51752	ERAP1	ORPHA:117
HP:0001287	Meningitis	8302	KLRC4	ORPHA:117
HP:0001287	Meningitis	4261	CIITA	OMIM:209920
HP:0001287	Meningitis	5994	RFXAP	OMIM:209920
HP:0001287	Meningitis	5993	RFX5	OMIM:209920
HP:0001287	Meningitis	8625	RFXANK	OMIM:209920
HP:0001287	Meningitis	55343	SLC35C1	ORPHA:99843
HP:0001287	Meningitis	3574	IL7	OMIM:618309
HP:0001289	Confusion	6584	SLC22A5	ORPHA:158
HP:0001289	Confusion	6584	SLC22A5	OMIM:212140
HP:0001289	Confusion	5621	PRNP	ORPHA:282166
HP:0001289	Confusion	5621	PRNP	OMIM:123400
HP:0001289	Confusion	8029	CUBN	OMIM:261100
HP:0001289	Confusion	6261	RYR1	ORPHA:466650
HP:0001289	Confusion	8659	ALDH4A1	ORPHA:79101
HP:0001289	Confusion	378884	NHLRC1	ORPHA:501
HP:0001289	Confusion	7957	EPM2A	ORPHA:501
HP:0001289	Confusion	80704	SLC19A3	OMIM:607483
HP:0001289	Confusion	80704	SLC19A3	ORPHA:263410
HP:0001289	Confusion	162417	NAGS	OMIM:237310
HP:0001289	Confusion	162417	NAGS	ORPHA:927
HP:0001289	Confusion	4125	MAN2B1	ORPHA:309282
HP:0001289	Confusion	4125	MAN2B1	ORPHA:309288
HP:0001289	Confusion	8722	CTSF	OMIM:615362
HP:0001289	Confusion	1135	CHRNA2	OMIM:610353
HP:0001289	Confusion	2068	ERCC2	ORPHA:220295
HP:0001289	Confusion	2073	ERCC5	ORPHA:220295
HP:0001289	Confusion	2072	ERCC4	ORPHA:220295
HP:0001289	Confusion	2071	ERCC3	ORPHA:220295
HP:0001289	Confusion	29110	TBK1	OMIM:617900
HP:0001289	Confusion	11093	ADAMTS13	OMIM:274150
HP:0001289	Confusion	3033	HADH	ORPHA:71212
HP:0001289	Confusion	11128	POLR3A	ORPHA:3455
HP:0001289	Confusion	10166	SLC25A15	ORPHA:415
HP:0001289	Confusion	10166	SLC25A15	OMIM:238970
HP:0001289	Confusion	10165	SLC25A13	OMIM:603471
HP:0001289	Confusion	10165	SLC25A13	ORPHA:247585
HP:0001289	Confusion	4854	NOTCH3	ORPHA:136
HP:0001289	Confusion	4221	MEN1	ORPHA:652
HP:0001289	Confusion	1027	CDKN1B	ORPHA:652
HP:0001289	Confusion	1026	CDKN1A	ORPHA:652
HP:0001289	Confusion	1030	CDKN2B	ORPHA:652
HP:0001289	Confusion	1031	CDKN2C	ORPHA:652
HP:0001289	Confusion	6513	SLC2A1	OMIM:606777
HP:0001289	Confusion	6513	SLC2A1	ORPHA:71277
HP:0001289	Confusion	210	ALAD	ORPHA:100924
HP:0001289	Confusion	215	ABCD1	ORPHA:139396
HP:0001289	Confusion	5663	PSEN1	ORPHA:1020
HP:0001289	Confusion	5664	PSEN2	ORPHA:1020
HP:0001289	Confusion	10452	TOMM40	ORPHA:1020
HP:0001289	Confusion	351	APP	ORPHA:1020
HP:0001289	Confusion	54209	TREM2	ORPHA:1020
HP:0001289	Confusion	10347	ABCA7	ORPHA:1020
HP:0001289	Confusion	6653	SORL1	ORPHA:1020
HP:0001289	Confusion	2778	GNAS	ORPHA:79443
HP:0001289	Confusion	2778	GNAS	ORPHA:79444
HP:0001289	Confusion	1371	CPOX	OMIM:121300
HP:0001289	Confusion	3119	HLA-DQB1	OMIM:123400
HP:0001289	Confusion	773	CACNA1A	ORPHA:569
HP:0001289	Confusion	773	CACNA1A	OMIM:141500
HP:0001289	Confusion	112476	PRRT2	ORPHA:569
HP:0001289	Confusion	6323	SCN1A	ORPHA:569
HP:0001289	Confusion	477	ATP1A2	ORPHA:569
HP:0001289	Confusion	477	ATP1A2	OMIM:602481
HP:0001289	Confusion	7276	TTR	OMIM:105210
HP:0001289	Confusion	23400	ATP13A2	ORPHA:306674
HP:0001289	Confusion	7098	TLR3	OMIM:613002
HP:0001289	Confusion	7388	UQCRH	OMIM:620137
HP:0001289	Confusion	3145	HMBS	ORPHA:79276
HP:0001289	Confusion	6908	TBP	OMIM:607136
HP:0001289	Confusion	56978	PRDM8	ORPHA:324290
HP:0001289	Confusion	25974	MMACHC	OMIM:277400
HP:0001289	Confusion	5052	PRDX1	OMIM:277400
HP:0001289	Confusion	149233	IL23R	ORPHA:117
HP:0001289	Confusion	6775	STAT4	ORPHA:117
HP:0001289	Confusion	3586	IL10	ORPHA:117
HP:0001289	Confusion	4210	MEFV	ORPHA:117
HP:0001289	Confusion	1230	CCR1	ORPHA:117
HP:0001289	Confusion	355	FAS	ORPHA:117
HP:0001289	Confusion	3592	IL12A	ORPHA:117
HP:0001289	Confusion	101928376	IL12A-AS1	ORPHA:117
HP:0001289	Confusion	3106	HLA-B	ORPHA:117
HP:0001289	Confusion	7099	TLR4	ORPHA:117
HP:0001289	Confusion	3459	IFNGR1	ORPHA:117
HP:0001289	Confusion	720	C4A	ORPHA:117
HP:0001289	Confusion	337867	UBAC2	ORPHA:117
HP:0001289	Confusion	51752	ERAP1	ORPHA:117
HP:0001289	Confusion	8302	KLRC4	ORPHA:117
HP:0001289	Confusion	9896	FIG4	ORPHA:208441
HP:0001289	Confusion	9896	FIG4	OMIM:612691
HP:0001289	Confusion	1786	DNMT1	OMIM:614116
HP:0001289	Confusion	4556	MT-TE	ORPHA:2596
HP:0008445	Cervical spinal canal stenosis	2137	EXTL3	ORPHA:508533
HP:0008445	Cervical spinal canal stenosis	55699	IARS2	OMIM:616007
HP:0008445	Cervical spinal canal stenosis	55699	IARS2	ORPHA:436174
HP:0008445	Cervical spinal canal stenosis	79848	CSPP1	ORPHA:397715
HP:0008445	Cervical spinal canal stenosis	9786	KIAA0586	ORPHA:397715
HP:0008445	Cervical spinal canal stenosis	2261	FGFR3	ORPHA:15
HP:0008445	Cervical spinal canal stenosis	4621	MYH3	OMIM:178110
HP:0008445	Cervical spinal canal stenosis	284058	KANSL1	ORPHA:363965
HP:0008445	Cervical spinal canal stenosis	284058	KANSL1	ORPHA:363958
HP:0008445	Cervical spinal canal stenosis	84295	PHF6	OMIM:301900
HP:0008445	Cervical spinal canal stenosis	80036	TRPM3	OMIM:620224
HP:0008445	Cervical spinal canal stenosis	4773	NFATC2	OMIM:620232
HP:0008445	Cervical spinal canal stenosis	415	ARSL	ORPHA:79345
HP:0008447	Hypoplastic coccygeal vertebrae	1182	CLCN3	OMIM:619512
HP:0008447	Hypoplastic coccygeal vertebrae	6223	RPS19	OMIM:105650
HP:0008449	Progressive cervical vertebral spine fusion	90	ACVR1	OMIM:135100
HP:0031842	Lymphangiectasis	9780	PIEZO1	OMIM:616843
HP:0031842	Lymphangiectasis	79633	FAT4	OMIM:616006
HP:0031842	Lymphangiectasis	1604	CD55	OMIM:226300
HP:0031842	Lymphangiectasis	147372	CCBE1	OMIM:235510
HP:0031842	Lymphangiectasis	54345	SOX18	OMIM:137940
HP:0031842	Lymphangiectasis	9508	ADAMTS3	ORPHA:2136
HP:0031842	Lymphangiectasis	2294	FOXF1	OMIM:265380
HP:0031842	Lymphangiectasis	4351	MPI	OMIM:602579
HP:0031842	Lymphangiectasis	3265	HRAS	OMIM:218040
HP:0031843	Bradyphrenia	1213	CLTC	OMIM:617854
HP:0031843	Bradyphrenia	4854	NOTCH3	ORPHA:136
HP:0031843	Bradyphrenia	3064	HTT	ORPHA:399
HP:0031843	Bradyphrenia	6515	SLC2A3	ORPHA:399
HP:0031843	Bradyphrenia	23230	VPS13A	ORPHA:2388
HP:0031843	Bradyphrenia	1760	DMPK	ORPHA:589821
HP:0031844	Euphoria	7305	TYROBP	OMIM:221770
HP:0031857	Ineffective esophageal peristalsis	54809	SAMD9	OMIM:617053
HP:0031857	Ineffective esophageal peristalsis	2982	GUCY1A1	OMIM:615750
HP:0031857	Ineffective esophageal peristalsis	55699	IARS2	OMIM:616007
HP:0031857	Ineffective esophageal peristalsis	55699	IARS2	ORPHA:436174
HP:0031857	Ineffective esophageal peristalsis	6774	STAT3	OMIM:615952
HP:0031857	Ineffective esophageal peristalsis	10625	IVNS1ABP	OMIM:618969
HP:0031857	Ineffective esophageal peristalsis	29926	GMPPA	OMIM:615510
HP:0031857	Ineffective esophageal peristalsis	29926	GMPPA	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	60684	TRAPPC11	OMIM:615356
HP:0031857	Ineffective esophageal peristalsis	60684	TRAPPC11	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	8086	AAAS	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	8086	AAAS	OMIM:231550
HP:0031857	Ineffective esophageal peristalsis	2717	GLA	ORPHA:324
HP:0031857	Ineffective esophageal peristalsis	60	ACTB	ORPHA:79107
HP:0031857	Ineffective esophageal peristalsis	60	ACTB	OMIM:607371
HP:0031857	Ineffective esophageal peristalsis	4212	MEIS2	OMIM:600987
HP:0031857	Ineffective esophageal peristalsis	28982	FLVCR1	OMIM:609033
HP:0031857	Ineffective esophageal peristalsis	1288	COL4A6	ORPHA:1018
HP:0031857	Ineffective esophageal peristalsis	1287	COL4A5	ORPHA:1018
HP:0031857	Ineffective esophageal peristalsis	283446	MYO1H	OMIM:619482
HP:0031857	Ineffective esophageal peristalsis	4629	MYH11	OMIM:619350
HP:0031857	Ineffective esophageal peristalsis	8929	PHOX2B	OMIM:209880
HP:0031850	Abnormal hematocrit	669	BPGM	OMIM:222800
HP:0031850	Abnormal hematocrit	3717	JAK2	OMIM:133100
HP:0031850	Abnormal hematocrit	3717	JAK2	OMIM:263300
HP:0031850	Abnormal hematocrit	10019	SH2B3	OMIM:133100
HP:0031850	Abnormal hematocrit	2057	EPOR	OMIM:133100
HP:0031850	Abnormal hematocrit	2034	EPAS1	OMIM:611783
HP:0031850	Abnormal hematocrit	2056	EPO	OMIM:617907
HP:0031850	Abnormal hematocrit	7428	VHL	OMIM:263400
HP:0031850	Abnormal hematocrit	54583	EGLN1	OMIM:609820
HP:0031850	Abnormal hematocrit	3040	HBA2	OMIM:617981
HP:0031850	Abnormal hematocrit	3039	HBA1	OMIM:617981
HP:0031850	Abnormal hematocrit	3043	HBB	OMIM:617980
HP:0031850	Abnormal hematocrit	10661	KLF1	OMIM:613673
HP:0031850	Abnormal hematocrit	150274	HSCB	OMIM:619523
HP:0031851	Reduced hematocrit	10661	KLF1	OMIM:613673
HP:0031851	Reduced hematocrit	150274	HSCB	OMIM:619523
HP:0031853	Isomerism	4838	NODAL	OMIM:270100
HP:0031853	Isomerism	2657	GDF1	OMIM:208530
HP:0031853	Isomerism	55997	CFC1	OMIM:605376
HP:0031853	Isomerism	4087	SMAD2	OMIM:619657
HP:0031853	Isomerism	2187	FANCB	OMIM:314390
HP:0031853	Isomerism	7547	ZIC3	OMIM:314390
HP:0031853	Isomerism	100128908	CIROP	OMIM:619702
HP:0031853	Isomerism	1770	DNAH9	OMIM:618300
HP:0034300	Decreased acid sphingomyelinase activity	6609	SMPD1	OMIM:607616
HP:0034302	Megalopapilla	79848	CSPP1	OMIM:615636
HP:0034303	Notched T wave	144245	ALG10B	OMIM:613688
HP:0034303	Notched T wave	3757	KCNH2	OMIM:613688
HP:0034304	Epsilon wave	5318	PKP2	OMIM:609040
HP:0034304	Epsilon wave	1829	DSG2	OMIM:610193
HP:0034305	2:1 atrioventricular block	805	CALM2	OMIM:616249
HP:0034305	2:1 atrioventricular block	801	CALM1	OMIM:616247
HP:0001290	Generalized hypotonia	2137	EXTL3	ORPHA:508533
HP:0001290	Generalized hypotonia	8036	SHOC2	OMIM:607721
HP:0001290	Generalized hypotonia	2673	GFPT1	OMIM:608931
HP:0001290	Generalized hypotonia	2673	GFPT1	ORPHA:353327
HP:0001290	Generalized hypotonia	10617	STAMBP	OMIM:614261
HP:0001290	Generalized hypotonia	104	ADARB1	OMIM:618862
HP:0001290	Generalized hypotonia	23019	CNOT1	OMIM:618500
HP:0001290	Generalized hypotonia	23019	CNOT1	OMIM:619033
HP:0001290	Generalized hypotonia	28981	IFT81	OMIM:617895
HP:0001290	Generalized hypotonia	50651	SLC45A1	OMIM:617532
HP:0001290	Generalized hypotonia	51569	UFM1	OMIM:617899
HP:0001290	Generalized hypotonia	1024	CDK8	OMIM:618748
HP:0001290	Generalized hypotonia	6659	SOX4	OMIM:618506
HP:0001290	Generalized hypotonia	51126	NAA20	OMIM:619717
HP:0001290	Generalized hypotonia	10059	DNM1L	OMIM:614388
HP:0001290	Generalized hypotonia	60684	TRAPPC11	OMIM:615356
HP:0001290	Generalized hypotonia	4860	PNP	OMIM:613179
HP:0001290	Generalized hypotonia	6228	RPS23	OMIM:617412
HP:0001290	Generalized hypotonia	9254	CACNA2D2	OMIM:618501
HP:0001290	Generalized hypotonia	23417	MLYCD	OMIM:248360
HP:0001290	Generalized hypotonia	2720	GLB1	OMIM:230600
HP:0001290	Generalized hypotonia	84334	COA8	ORPHA:436271
HP:0001290	Generalized hypotonia	5830	PEX5	OMIM:214110
HP:0001290	Generalized hypotonia	64220	STRA6	OMIM:601186
HP:0001290	Generalized hypotonia	2731	GLDC	OMIM:605899
HP:0001290	Generalized hypotonia	275	AMT	OMIM:605899
HP:0001290	Generalized hypotonia	79848	CSPP1	ORPHA:397715
HP:0001290	Generalized hypotonia	9786	KIAA0586	ORPHA:397715
HP:0001290	Generalized hypotonia	9786	KIAA0586	OMIM:616546
HP:0001290	Generalized hypotonia	197131	UBR1	OMIM:243800
HP:0001290	Generalized hypotonia	116931	MED12L	OMIM:618872
HP:0001290	Generalized hypotonia	80816	ASXL3	OMIM:615485
HP:0001290	Generalized hypotonia	10026	PIGK	OMIM:618879
HP:0001290	Generalized hypotonia	1785	DNM2	OMIM:615368
HP:0001290	Generalized hypotonia	1785	DNM2	OMIM:160150
HP:0001290	Generalized hypotonia	1785	DNM2	ORPHA:169189
HP:0001290	Generalized hypotonia	2782	GNB1	ORPHA:488613
HP:0001290	Generalized hypotonia	526	ATP6V1B2	OMIM:616455
HP:0001290	Generalized hypotonia	55690	PACS1	OMIM:615009
HP:0001290	Generalized hypotonia	55904	KMT2E	OMIM:618512
HP:0001290	Generalized hypotonia	120227	CYP2R1	OMIM:600081
HP:0001290	Generalized hypotonia	120227	CYP2R1	ORPHA:289157
HP:0001290	Generalized hypotonia	79158	GNPTAB	OMIM:252500
HP:0001290	Generalized hypotonia	5189	PEX1	OMIM:214100
HP:0001290	Generalized hypotonia	5189	PEX1	OMIM:601539
HP:0001290	Generalized hypotonia	55650	PIGV	OMIM:239300
HP:0001290	Generalized hypotonia	23474	ETHE1	ORPHA:51188
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309271
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309263
HP:0001290	Generalized hypotonia	410	ARSA	OMIM:250100
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309256
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309271
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309263
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309256
HP:0001290	Generalized hypotonia	10559	SLC35A1	OMIM:603585
HP:0001290	Generalized hypotonia	79868	ALG13	ORPHA:324422
HP:0001290	Generalized hypotonia	55687	TRMU	OMIM:613070
HP:0001290	Generalized hypotonia	55687	TRMU	ORPHA:254864
HP:0001290	Generalized hypotonia	288	ANK3	OMIM:615493
HP:0001290	Generalized hypotonia	2590	GALNT2	OMIM:618885
HP:0001290	Generalized hypotonia	818	CAMK2G	OMIM:618522
HP:0001290	Generalized hypotonia	55154	MSTO1	OMIM:617675
HP:0001290	Generalized hypotonia	55154	MSTO1	ORPHA:502423
HP:0001290	Generalized hypotonia	1759	DNM1	OMIM:616346
HP:0001290	Generalized hypotonia	1759	DNM1	ORPHA:442835
HP:0001290	Generalized hypotonia	1759	DNM1	OMIM:620352
HP:0001290	Generalized hypotonia	7436	VLDLR	OMIM:224050
HP:0001290	Generalized hypotonia	83480	PUS3	ORPHA:488627
HP:0001290	Generalized hypotonia	157680	VPS13B	OMIM:216550
HP:0001290	Generalized hypotonia	4620	MYH2	OMIM:605637
HP:0001290	Generalized hypotonia	6872	TAF1	ORPHA:480907
HP:0001290	Generalized hypotonia	6872	TAF1	OMIM:300966
HP:0001290	Generalized hypotonia	79147	FKRP	ORPHA:34515
HP:0001290	Generalized hypotonia	79147	FKRP	ORPHA:370980
HP:0001290	Generalized hypotonia	8726	EED	OMIM:617561
HP:0001290	Generalized hypotonia	1303	COL12A1	OMIM:616471
HP:0001290	Generalized hypotonia	1303	COL12A1	ORPHA:75840
HP:0001290	Generalized hypotonia	54968	TMEM70	OMIM:614052
HP:0001290	Generalized hypotonia	4330	MN1	OMIM:618774
HP:0001290	Generalized hypotonia	1594	CYP27B1	OMIM:264700
HP:0001290	Generalized hypotonia	1594	CYP27B1	ORPHA:289157
HP:0001290	Generalized hypotonia	88	ACTN2	OMIM:618654
HP:0001290	Generalized hypotonia	5528	PPP2R5D	OMIM:616355
HP:0001290	Generalized hypotonia	5528	PPP2R5D	ORPHA:457279
HP:0001290	Generalized hypotonia	39	ACAT2	OMIM:614055
HP:0001290	Generalized hypotonia	388962	BOLA3	OMIM:614299
HP:0001290	Generalized hypotonia	2783	GNB2	OMIM:619503
HP:0001290	Generalized hypotonia	79731	NARS2	OMIM:616239
HP:0001290	Generalized hypotonia	3737	KCNA2	ORPHA:442835
HP:0001290	Generalized hypotonia	8120	AP3B2	ORPHA:442835
HP:0001290	Generalized hypotonia	8120	AP3B2	OMIM:617276
HP:0001290	Generalized hypotonia	523	ATP6V1A	ORPHA:442835
HP:0001290	Generalized hypotonia	523	ATP6V1A	OMIM:617403
HP:0001290	Generalized hypotonia	10991	SLC38A3	ORPHA:442835
HP:0001290	Generalized hypotonia	51343	FZR1	ORPHA:442835
HP:0001290	Generalized hypotonia	22906	TRAK1	ORPHA:442835
HP:0001290	Generalized hypotonia	2566	GABRG2	ORPHA:442835
HP:0001290	Generalized hypotonia	1917	EEF1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	2561	GABRB2	ORPHA:442835
HP:0001290	Generalized hypotonia	8831	SYNGAP1	ORPHA:442835
HP:0001290	Generalized hypotonia	7532	YWHAG	ORPHA:442835
HP:0001290	Generalized hypotonia	79876	UBA5	ORPHA:442835
HP:0001290	Generalized hypotonia	6328	SCN3A	ORPHA:442835
HP:0001290	Generalized hypotonia	6328	SCN3A	OMIM:617938
HP:0001290	Generalized hypotonia	2558	GABRA5	ORPHA:442835
HP:0001290	Generalized hypotonia	2558	GABRA5	OMIM:618559
HP:0001290	Generalized hypotonia	781	CACNA2D1	ORPHA:442835
HP:0001290	Generalized hypotonia	2906	GRIN2D	ORPHA:442835
HP:0001290	Generalized hypotonia	116150	NUS1	ORPHA:442835
HP:0001290	Generalized hypotonia	116150	NUS1	OMIM:617082
HP:0001290	Generalized hypotonia	10659	CELF2	ORPHA:442835
HP:0001290	Generalized hypotonia	774	CACNA1B	ORPHA:442835
HP:0001290	Generalized hypotonia	1213	CLTC	ORPHA:442835
HP:0001290	Generalized hypotonia	51741	WWOX	ORPHA:442835
HP:0001290	Generalized hypotonia	23334	SZT2	ORPHA:442835
HP:0001290	Generalized hypotonia	51412	ACTL6B	ORPHA:442835
HP:0001290	Generalized hypotonia	348980	HCN1	ORPHA:442835
HP:0001290	Generalized hypotonia	6506	SLC1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	6506	SLC1A2	OMIM:617105
HP:0001290	Generalized hypotonia	8867	SYNJ1	ORPHA:442835
HP:0001290	Generalized hypotonia	2258	FGF13	ORPHA:442835
HP:0001290	Generalized hypotonia	477	ATP1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	3745	KCNB1	ORPHA:442835
HP:0001290	Generalized hypotonia	284111	SLC13A5	ORPHA:442835
HP:0001290	Generalized hypotonia	25977	NECAP1	ORPHA:442835
HP:0001290	Generalized hypotonia	25977	NECAP1	OMIM:615833
HP:0001290	Generalized hypotonia	16	AARS1	ORPHA:442835
HP:0001290	Generalized hypotonia	6334	SCN8A	ORPHA:442835
HP:0001290	Generalized hypotonia	6334	SCN8A	OMIM:614306
HP:0001290	Generalized hypotonia	22866	CNKSR2	ORPHA:442835
HP:0001290	Generalized hypotonia	9568	GABBR2	ORPHA:442835
HP:0001290	Generalized hypotonia	9568	GABBR2	OMIM:617904
HP:0001290	Generalized hypotonia	2555	GABRA2	ORPHA:442835
HP:0001290	Generalized hypotonia	2555	GABRA2	OMIM:618557
HP:0001290	Generalized hypotonia	55152	DALRD3	ORPHA:442835
HP:0001290	Generalized hypotonia	55152	DALRD3	OMIM:618910
HP:0001290	Generalized hypotonia	773	CACNA1A	ORPHA:442835
HP:0001290	Generalized hypotonia	773	CACNA1A	OMIM:617106
HP:0001290	Generalized hypotonia	26999	CYFIP2	ORPHA:442835
HP:0001290	Generalized hypotonia	26999	CYFIP2	OMIM:618008
HP:0001290	Generalized hypotonia	4915	NTRK2	ORPHA:442835
HP:0001290	Generalized hypotonia	4915	NTRK2	OMIM:617830
HP:0001290	Generalized hypotonia	25973	PARS2	ORPHA:442835
HP:0001290	Generalized hypotonia	23097	CDK19	ORPHA:442835
HP:0001290	Generalized hypotonia	64801	ARV1	ORPHA:442835
HP:0001290	Generalized hypotonia	79947	DHDDS	ORPHA:442835
HP:0001290	Generalized hypotonia	79947	DHDDS	OMIM:617836
HP:0001290	Generalized hypotonia	2257	FGF12	ORPHA:442835
HP:0001290	Generalized hypotonia	5530	PPP3CA	ORPHA:442835
HP:0001290	Generalized hypotonia	478	ATP1A3	ORPHA:442835
HP:0001290	Generalized hypotonia	478	ATP1A3	ORPHA:71517
HP:0001290	Generalized hypotonia	3782	KCNN3	OMIM:618658
HP:0001290	Generalized hypotonia	6905	TBCE	OMIM:617207
HP:0001290	Generalized hypotonia	6905	TBCE	ORPHA:496756
HP:0001290	Generalized hypotonia	284439	SLC25A42	OMIM:618416
HP:0001290	Generalized hypotonia	8642	DCHS1	OMIM:601390
HP:0001290	Generalized hypotonia	4247	MGAT2	OMIM:212066
HP:0001290	Generalized hypotonia	4247	MGAT2	ORPHA:79329
HP:0001290	Generalized hypotonia	8241	RBM10	OMIM:311900
HP:0001290	Generalized hypotonia	8241	RBM10	ORPHA:2886
HP:0001290	Generalized hypotonia	1947	EFNB1	OMIM:304110
HP:0001290	Generalized hypotonia	11285	B4GALT7	OMIM:130070
HP:0001290	Generalized hypotonia	1187	CLCNKA	OMIM:613090
HP:0001290	Generalized hypotonia	1188	CLCNKB	OMIM:613090
HP:0001290	Generalized hypotonia	253738	EBF3	OMIM:617330
HP:0001290	Generalized hypotonia	1186	CLCN7	OMIM:618541
HP:0001290	Generalized hypotonia	339983	NAT8L	OMIM:614063
HP:0001290	Generalized hypotonia	8260	NAA10	OMIM:309800
HP:0001290	Generalized hypotonia	8260	NAA10	ORPHA:276432
HP:0001290	Generalized hypotonia	54880	BCOR	OMIM:309800
HP:0001290	Generalized hypotonia	23512	SUZ12	OMIM:618786
HP:0001290	Generalized hypotonia	29081	METTL5	OMIM:618665
HP:0001290	Generalized hypotonia	8879	SGPL1	OMIM:617575
HP:0001290	Generalized hypotonia	51604	PIGT	OMIM:615398
HP:0001290	Generalized hypotonia	84504	NKX6-2	ORPHA:527497
HP:0001290	Generalized hypotonia	23126	POGZ	OMIM:616364
HP:0001290	Generalized hypotonia	55773	TBC1D23	OMIM:617695
HP:0001290	Generalized hypotonia	8558	CDK10	OMIM:617694
HP:0001290	Generalized hypotonia	51633	OTUD6B	OMIM:617452
HP:0001290	Generalized hypotonia	51633	OTUD6B	ORPHA:505237
HP:0001290	Generalized hypotonia	92609	TIMM50	OMIM:617698
HP:0001290	Generalized hypotonia	8021	NUP214	OMIM:618426
HP:0001290	Generalized hypotonia	2643	GCH1	OMIM:233910
HP:0001290	Generalized hypotonia	6638	SNRPN	OMIM:105830
HP:0001290	Generalized hypotonia	7337	UBE3A	OMIM:105830
HP:0001290	Generalized hypotonia	166785	MMAA	OMIM:251100
HP:0001290	Generalized hypotonia	5551	PRF1	OMIM:603553
HP:0001290	Generalized hypotonia	8818	DPM2	OMIM:615042
HP:0001290	Generalized hypotonia	8818	DPM2	ORPHA:329178
HP:0001290	Generalized hypotonia	122961	ISCA2	OMIM:616370
HP:0001290	Generalized hypotonia	8733	GPAA1	ORPHA:529665
HP:0001290	Generalized hypotonia	5621	PRNP	ORPHA:157941
HP:0001290	Generalized hypotonia	7358	UGDH	OMIM:618792
HP:0001290	Generalized hypotonia	59336	PRDM13	OMIM:619761
HP:0001290	Generalized hypotonia	200424	TET3	OMIM:618798
HP:0001290	Generalized hypotonia	9772	TMEM94	OMIM:618316
HP:0001290	Generalized hypotonia	124583	CANT1	OMIM:251450
HP:0001290	Generalized hypotonia	51567	TDP2	ORPHA:404493
HP:0001290	Generalized hypotonia	51567	TDP2	OMIM:616949
HP:0001290	Generalized hypotonia	57104	PNPLA2	OMIM:610717
HP:0001290	Generalized hypotonia	57104	PNPLA2	ORPHA:98908
HP:0001290	Generalized hypotonia	2271	FH	OMIM:606812
HP:0001290	Generalized hypotonia	23556	PIGN	OMIM:614080
HP:0001290	Generalized hypotonia	4351	MPI	OMIM:602579
HP:0001290	Generalized hypotonia	3835	KIF22	OMIM:603546
HP:0001290	Generalized hypotonia	23007	PLCH1	OMIM:619895
HP:0001290	Generalized hypotonia	6324	SCN1B	OMIM:617350
HP:0001290	Generalized hypotonia	9922	IQSEC1	OMIM:618687
HP:0001290	Generalized hypotonia	85365	ALG2	OMIM:607906
HP:0001290	Generalized hypotonia	85365	ALG2	ORPHA:353327
HP:0001290	Generalized hypotonia	2562	GABRB3	OMIM:617113
HP:0001290	Generalized hypotonia	125988	MICOS13	OMIM:618329
HP:0001290	Generalized hypotonia	4099	MAG	ORPHA:459056
HP:0001290	Generalized hypotonia	64919	BCL11B	OMIM:617237
HP:0001290	Generalized hypotonia	7994	KAT6A	OMIM:616268
HP:0001290	Generalized hypotonia	9725	TMEM63A	OMIM:618688
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:324581
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:169186
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:169189
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:98905
HP:0001290	Generalized hypotonia	404672	GTF2H5	ORPHA:33364
HP:0001290	Generalized hypotonia	833	CARS1	ORPHA:33364
HP:0001290	Generalized hypotonia	2068	ERCC2	ORPHA:33364
HP:0001290	Generalized hypotonia	7737	RNF113A	ORPHA:33364
HP:0001290	Generalized hypotonia	136647	MPLKIP	ORPHA:33364
HP:0001290	Generalized hypotonia	6897	TARS1	ORPHA:33364
HP:0001290	Generalized hypotonia	2071	ERCC3	ORPHA:33364
HP:0001290	Generalized hypotonia	2961	GTF2E2	ORPHA:33364
HP:0001290	Generalized hypotonia	79087	ALG12	ORPHA:79324
HP:0001290	Generalized hypotonia	79087	ALG12	OMIM:607143
HP:0001290	Generalized hypotonia	57192	MCOLN1	OMIM:252650
HP:0001290	Generalized hypotonia	1967	EIF2B1	OMIM:603896
HP:0001290	Generalized hypotonia	54903	MKS1	OMIM:617121
HP:0001290	Generalized hypotonia	7040	TGFB1	OMIM:618213
HP:0001290	Generalized hypotonia	4633	MYL2	OMIM:619424
HP:0001290	Generalized hypotonia	1892	ECHS1	OMIM:616277
HP:0001290	Generalized hypotonia	5587	PRKD1	OMIM:617364
HP:0001290	Generalized hypotonia	27429	HTRA2	OMIM:617248
HP:0001290	Generalized hypotonia	7227	TRPS1	OMIM:190350
HP:0001290	Generalized hypotonia	5081	PAX7	OMIM:618578
HP:0001290	Generalized hypotonia	389827	MYMK	OMIM:254940
HP:0001290	Generalized hypotonia	846	CASR	OMIM:239200
HP:0001290	Generalized hypotonia	7080	NKX2-1	OMIM:610978
HP:0001290	Generalized hypotonia	2879	GPX4	OMIM:250220
HP:0001290	Generalized hypotonia	2879	GPX4	ORPHA:93317
HP:0001290	Generalized hypotonia	9949	AMMECR1	OMIM:300990
HP:0001290	Generalized hypotonia	291	SLC25A4	ORPHA:254892
HP:0001290	Generalized hypotonia	291	SLC25A4	OMIM:617184
HP:0001290	Generalized hypotonia	5428	POLG	ORPHA:254892
HP:0001290	Generalized hypotonia	5428	POLG	ORPHA:94125
HP:0001290	Generalized hypotonia	5428	POLG	OMIM:203700
HP:0001290	Generalized hypotonia	5428	POLG	OMIM:613662
HP:0001290	Generalized hypotonia	56652	TWNK	ORPHA:254892
HP:0001290	Generalized hypotonia	11232	POLG2	ORPHA:254892
HP:0001290	Generalized hypotonia	11232	POLG2	OMIM:610131
HP:0001290	Generalized hypotonia	50484	RRM2B	ORPHA:254892
HP:0001290	Generalized hypotonia	50484	RRM2B	OMIM:612075
HP:0001290	Generalized hypotonia	9361	LONP1	OMIM:600373
HP:0001290	Generalized hypotonia	57190	SELENON	ORPHA:324604
HP:0001290	Generalized hypotonia	57190	SELENON	ORPHA:97244
HP:0001290	Generalized hypotonia	57190	SELENON	OMIM:602771
HP:0001290	Generalized hypotonia	4625	MYH7	ORPHA:324604
HP:0001290	Generalized hypotonia	7273	TTN	ORPHA:324604
HP:0001290	Generalized hypotonia	7273	TTN	ORPHA:169186
HP:0001290	Generalized hypotonia	9488	PIGB	OMIM:618580
HP:0001290	Generalized hypotonia	58	ACTA1	ORPHA:97244
HP:0001290	Generalized hypotonia	58	ACTA1	ORPHA:171439
HP:0001290	Generalized hypotonia	6134	RPL10	OMIM:300998
HP:0001290	Generalized hypotonia	374291	NDUFS7	OMIM:618224
HP:0001290	Generalized hypotonia	2775	GNAO1	OMIM:617493
HP:0001290	Generalized hypotonia	1173	AP2M1	OMIM:618587
HP:0001290	Generalized hypotonia	8506	CNTNAP1	OMIM:616286
HP:0001290	Generalized hypotonia	54517	PUS7	OMIM:618342
HP:0001290	Generalized hypotonia	57102	C12orf4	OMIM:618221
HP:0001290	Generalized hypotonia	56203	LMOD3	OMIM:616165
HP:0001290	Generalized hypotonia	10564	ARFGEF2	OMIM:608097
HP:0001290	Generalized hypotonia	4719	NDUFS1	OMIM:618226
HP:0001290	Generalized hypotonia	1798	DPAGT1	OMIM:608093
HP:0001290	Generalized hypotonia	1798	DPAGT1	ORPHA:353327
HP:0001290	Generalized hypotonia	4720	NDUFS2	OMIM:618228
HP:0001290	Generalized hypotonia	100151683	RNU4ATAC	ORPHA:353298
HP:0001290	Generalized hypotonia	100151683	RNU4ATAC	OMIM:616651
HP:0001290	Generalized hypotonia	4729	NDUFV2	OMIM:618229
HP:0001290	Generalized hypotonia	56623	INPP5E	OMIM:213300
HP:0001290	Generalized hypotonia	9256	TSPOAP1	ORPHA:101150
HP:0001290	Generalized hypotonia	7054	TH	ORPHA:101150
HP:0001290	Generalized hypotonia	50814	NSDHL	ORPHA:251383
HP:0001290	Generalized hypotonia	50814	NSDHL	OMIM:300831
HP:0001290	Generalized hypotonia	10102	TSFM	OMIM:610505
HP:0001290	Generalized hypotonia	3708	ITPR1	ORPHA:208513
HP:0001290	Generalized hypotonia	3708	ITPR1	OMIM:206700
HP:0001290	Generalized hypotonia	7681	MKRN3	OMIM:176270
HP:0001290	Generalized hypotonia	3653	IPW	OMIM:176270
HP:0001290	Generalized hypotonia	54551	MAGEL2	OMIM:176270
HP:0001290	Generalized hypotonia	791114	PWRN1	OMIM:176270
HP:0001290	Generalized hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001290	Generalized hypotonia	8924	HERC2	OMIM:176270
HP:0001290	Generalized hypotonia	8924	HERC2	OMIM:615516
HP:0001290	Generalized hypotonia	145624	PWAR1	OMIM:176270
HP:0001290	Generalized hypotonia	23742	NPAP1	OMIM:176270
HP:0001290	Generalized hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001290	Generalized hypotonia	56945	MRPS22	OMIM:611719
HP:0001290	Generalized hypotonia	1120	CHKB	OMIM:602541
HP:0001290	Generalized hypotonia	55869	HDAC8	OMIM:300882
HP:0001290	Generalized hypotonia	56521	DNAJC12	OMIM:617384
HP:0001290	Generalized hypotonia	126328	NDUFA11	OMIM:618236
HP:0001290	Generalized hypotonia	10978	CLP1	ORPHA:411493
HP:0001290	Generalized hypotonia	57520	HECW2	OMIM:617268
HP:0001290	Generalized hypotonia	4722	NDUFS3	OMIM:618230
HP:0001290	Generalized hypotonia	63895	PIEZO2	OMIM:617146
HP:0001290	Generalized hypotonia	63895	PIEZO2	OMIM:248700
HP:0001290	Generalized hypotonia	29078	NDUFAF4	OMIM:618237
HP:0001290	Generalized hypotonia	1654	DDX3X	ORPHA:457260
HP:0001290	Generalized hypotonia	79133	NDUFAF5	OMIM:618238
HP:0001290	Generalized hypotonia	1760	DMPK	OMIM:160900
HP:0001290	Generalized hypotonia	7846	TUBA1A	OMIM:611603
HP:0001290	Generalized hypotonia	10166	SLC25A15	ORPHA:415
HP:0001290	Generalized hypotonia	3417	IDH1	ORPHA:99646
HP:0001290	Generalized hypotonia	3192	HNRNPU	OMIM:617391
HP:0001290	Generalized hypotonia	55967	NDUFA12	OMIM:618244
HP:0001290	Generalized hypotonia	7084	TK2	ORPHA:254875
HP:0001290	Generalized hypotonia	7084	TK2	OMIM:609560
HP:0001290	Generalized hypotonia	28982	FLVCR1	ORPHA:88628
HP:0001290	Generalized hypotonia	56915	EXOSC5	OMIM:619576
HP:0001290	Generalized hypotonia	51132	RLIM	OMIM:300978
HP:0001290	Generalized hypotonia	34	ACADM	OMIM:201450
HP:0001290	Generalized hypotonia	4125	MAN2B1	OMIM:248500
HP:0001290	Generalized hypotonia	23345	SYNE1	OMIM:618484
HP:0001290	Generalized hypotonia	11274	USP18	OMIM:617397
HP:0001290	Generalized hypotonia	7169	TPM2	OMIM:609285
HP:0001290	Generalized hypotonia	7169	TPM2	OMIM:108120
HP:0001290	Generalized hypotonia	7169	TPM2	ORPHA:171881
HP:0001290	Generalized hypotonia	7169	TPM2	ORPHA:171439
HP:0001290	Generalized hypotonia	201163	FLCN	OMIM:610883
HP:0001290	Generalized hypotonia	2019	EN1	OMIM:619218
HP:0001290	Generalized hypotonia	23203	PMPCA	OMIM:213200
HP:0001290	Generalized hypotonia	4864	NPC1	OMIM:257220
HP:0001290	Generalized hypotonia	55750	AGK	OMIM:212350
HP:0001290	Generalized hypotonia	6821	SUOX	OMIM:272300
HP:0001290	Generalized hypotonia	22827	PUF60	ORPHA:508488
HP:0001290	Generalized hypotonia	2898	GRIK2	OMIM:619580
HP:0001290	Generalized hypotonia	80324	PUS1	OMIM:600462
HP:0001290	Generalized hypotonia	1781	DYNC1I2	OMIM:618492
HP:0001290	Generalized hypotonia	112812	FDX2	OMIM:251900
HP:0001290	Generalized hypotonia	56776	FMN2	OMIM:616193
HP:0001290	Generalized hypotonia	23111	SPART	ORPHA:101000
HP:0001290	Generalized hypotonia	7809	BSND	OMIM:602522
HP:0001290	Generalized hypotonia	1277	COL1A1	OMIM:130060
HP:0001290	Generalized hypotonia	1277	COL1A1	OMIM:619115
HP:0001290	Generalized hypotonia	26276	VPS33B	OMIM:208085
HP:0001290	Generalized hypotonia	4556	MT-TE	ORPHA:254864
HP:0001290	Generalized hypotonia	6390	SDHB	OMIM:619224
HP:0001290	Generalized hypotonia	6390	SDHB	ORPHA:3208
HP:0001290	Generalized hypotonia	63931	MRPS14	OMIM:618378
HP:0001290	Generalized hypotonia	3977	LIFR	OMIM:601559
HP:0001290	Generalized hypotonia	54681	P4HTM	OMIM:618493
HP:0001290	Generalized hypotonia	4714	NDUFB8	OMIM:618252
HP:0001290	Generalized hypotonia	5283	PIGH	OMIM:618010
HP:0001290	Generalized hypotonia	7403	KDM6A	OMIM:300867
HP:0001290	Generalized hypotonia	4126	MANBA	OMIM:248510
HP:0001290	Generalized hypotonia	4700	NDUFA6	OMIM:618253
HP:0001290	Generalized hypotonia	51305	KCNK9	ORPHA:166108
HP:0001290	Generalized hypotonia	1280	COL2A1	OMIM:183900
HP:0001290	Generalized hypotonia	2218	FKTN	ORPHA:370980
HP:0001290	Generalized hypotonia	2218	FKTN	OMIM:253800
HP:0001290	Generalized hypotonia	729920	CRPPA	ORPHA:370980
HP:0001290	Generalized hypotonia	729920	CRPPA	OMIM:614643
HP:0001290	Generalized hypotonia	10585	POMT1	ORPHA:370980
HP:0001290	Generalized hypotonia	4990	SIX6	OMIM:206900
HP:0001290	Generalized hypotonia	6657	SOX2	OMIM:206900
HP:0001290	Generalized hypotonia	4548	MTR	OMIM:250940
HP:0001290	Generalized hypotonia	9791	PTDSS1	OMIM:151050
HP:0001290	Generalized hypotonia	8943	AP3D1	OMIM:617050
HP:0001290	Generalized hypotonia	23322	RPGRIP1L	OMIM:619113
HP:0001290	Generalized hypotonia	23322	RPGRIP1L	OMIM:611560
HP:0001290	Generalized hypotonia	139411	PTCHD1	OMIM:300830
HP:0001290	Generalized hypotonia	65250	CPLANE1	OMIM:277170
HP:0001290	Generalized hypotonia	65250	CPLANE1	ORPHA:2754
HP:0001290	Generalized hypotonia	51095	TRNT1	OMIM:616084
HP:0001290	Generalized hypotonia	64849	SLC13A3	OMIM:618384
HP:0001290	Generalized hypotonia	348180	CTU2	OMIM:618142
HP:0001290	Generalized hypotonia	94005	PIGS	OMIM:618143
HP:0001290	Generalized hypotonia	57514	ARHGAP31	OMIM:100300
HP:0001290	Generalized hypotonia	4361	MRE11	ORPHA:251347
HP:0001290	Generalized hypotonia	788	SLC25A20	OMIM:212138
HP:0001290	Generalized hypotonia	4983	OPHN1	ORPHA:137831
HP:0001290	Generalized hypotonia	4983	OPHN1	OMIM:300486
HP:0001290	Generalized hypotonia	9968	MED12	OMIM:309520
HP:0001290	Generalized hypotonia	31	ACACA	OMIM:613933
HP:0001290	Generalized hypotonia	113189	CHST14	OMIM:601776
HP:0001290	Generalized hypotonia	5290	PIK3CA	OMIM:602501
HP:0001290	Generalized hypotonia	3636	INPPL1	OMIM:258480
HP:0001290	Generalized hypotonia	2077	ERF	OMIM:617180
HP:0001290	Generalized hypotonia	90522	YIF1B	OMIM:619125
HP:0001290	Generalized hypotonia	4841	NONO	OMIM:300967
HP:0001290	Generalized hypotonia	4841	NONO	ORPHA:466791
HP:0001290	Generalized hypotonia	5058	PAK1	OMIM:618158
HP:0001290	Generalized hypotonia	8239	USP9X	OMIM:300968
HP:0001290	Generalized hypotonia	10651	MTX2	OMIM:619127
HP:0001290	Generalized hypotonia	1278	COL1A2	OMIM:619120
HP:0001290	Generalized hypotonia	1278	COL1A2	OMIM:617821
HP:0001290	Generalized hypotonia	9326	ZNHIT3	OMIM:260565
HP:0001290	Generalized hypotonia	22983	MAST1	OMIM:618273
HP:0001290	Generalized hypotonia	28514	DLL1	ORPHA:280195
HP:0001290	Generalized hypotonia	2253	FGF8	ORPHA:280195
HP:0001290	Generalized hypotonia	6496	SIX3	ORPHA:280195
HP:0001290	Generalized hypotonia	6496	SIX3	OMIM:157170
HP:0001290	Generalized hypotonia	7050	TGIF1	ORPHA:280195
HP:0001290	Generalized hypotonia	4838	NODAL	ORPHA:280195
HP:0001290	Generalized hypotonia	6469	SHH	ORPHA:280195
HP:0001290	Generalized hypotonia	7546	ZIC2	ORPHA:280195
HP:0001290	Generalized hypotonia	6491	STIL	ORPHA:280195
HP:0001290	Generalized hypotonia	2619	GAS1	ORPHA:280195
HP:0001290	Generalized hypotonia	84976	DISP1	ORPHA:280195
HP:0001290	Generalized hypotonia	2736	GLI2	ORPHA:280195
HP:0001290	Generalized hypotonia	8928	FOXH1	ORPHA:280195
HP:0001290	Generalized hypotonia	5727	PTCH1	ORPHA:280195
HP:0001290	Generalized hypotonia	50937	CDON	ORPHA:280195
HP:0001290	Generalized hypotonia	79143	MBOAT7	OMIM:617188
HP:0001290	Generalized hypotonia	23096	IQSEC2	OMIM:309530
HP:0001290	Generalized hypotonia	57038	RARS2	OMIM:611523
HP:0001290	Generalized hypotonia	5625	PRODH	OMIM:239500
HP:0001290	Generalized hypotonia	673	BRAF	OMIM:613706
HP:0001290	Generalized hypotonia	673	BRAF	OMIM:115150
HP:0001290	Generalized hypotonia	126792	B3GALT6	OMIM:271640
HP:0001290	Generalized hypotonia	201595	STT3B	ORPHA:370924
HP:0001290	Generalized hypotonia	403	ARL3	OMIM:618161
HP:0001290	Generalized hypotonia	1650	DDOST	ORPHA:300536
HP:0001290	Generalized hypotonia	6748	SSR4	ORPHA:370927
HP:0001290	Generalized hypotonia	6748	SSR4	OMIM:300934
HP:0001290	Generalized hypotonia	84295	PHF6	OMIM:301900
HP:0001290	Generalized hypotonia	9895	TECPR2	ORPHA:320385
HP:0001290	Generalized hypotonia	2193	FARSA	OMIM:619013
HP:0001290	Generalized hypotonia	89970	RSPRY1	ORPHA:457395
HP:0001290	Generalized hypotonia	89970	RSPRY1	OMIM:616723
HP:0001290	Generalized hypotonia	4668	NAGA	OMIM:609241
HP:0001290	Generalized hypotonia	2733	GLE1	OMIM:611890
HP:0001290	Generalized hypotonia	54187	NANS	OMIM:610442
HP:0001290	Generalized hypotonia	55005	RMND1	OMIM:614922
HP:0001290	Generalized hypotonia	284058	KANSL1	OMIM:610443
HP:0001290	Generalized hypotonia	10020	GNE	ORPHA:3166
HP:0001290	Generalized hypotonia	1719	DHFR	OMIM:613839
HP:0001290	Generalized hypotonia	84153	RNASEH2C	OMIM:610329
HP:0001290	Generalized hypotonia	8139	GAN	ORPHA:643
HP:0001290	Generalized hypotonia	1376	CPT2	ORPHA:228308
HP:0001290	Generalized hypotonia	11011	TLK2	OMIM:618050
HP:0001290	Generalized hypotonia	3030	HADHA	ORPHA:5
HP:0001290	Generalized hypotonia	2316	FLNA	ORPHA:555877
HP:0001290	Generalized hypotonia	11342	RNF13	ORPHA:544503
HP:0001290	Generalized hypotonia	25886	POC1A	OMIM:614813
HP:0001290	Generalized hypotonia	871	SERPINH1	OMIM:613848
HP:0001290	Generalized hypotonia	9325	TRIP4	ORPHA:486815
HP:0001290	Generalized hypotonia	9325	TRIP4	OMIM:616866
HP:0001290	Generalized hypotonia	2760	GM2A	OMIM:272750
HP:0001290	Generalized hypotonia	168667	BMPER	OMIM:608022
HP:0001290	Generalized hypotonia	6584	SLC22A5	OMIM:212140
HP:0001290	Generalized hypotonia	9131	AIFM1	ORPHA:238329
HP:0001290	Generalized hypotonia	10682	EBP	ORPHA:401973
HP:0001290	Generalized hypotonia	6095	RORA	OMIM:618060
HP:0001290	Generalized hypotonia	8450	CUL4B	OMIM:300354
HP:0001290	Generalized hypotonia	158	ADSL	OMIM:103050
HP:0001290	Generalized hypotonia	158	ADSL	ORPHA:46
HP:0001290	Generalized hypotonia	324	APC	ORPHA:261584
HP:0001290	Generalized hypotonia	1183	CLCN4	OMIM:300114
HP:0001290	Generalized hypotonia	10046	MAMLD1	ORPHA:456328
HP:0001290	Generalized hypotonia	4534	MTM1	ORPHA:456328
HP:0001290	Generalized hypotonia	4574	MT-TS1	OMIM:220110
HP:0001290	Generalized hypotonia	4570	MT-TN	OMIM:220110
HP:0001290	Generalized hypotonia	6834	SURF1	OMIM:220110
HP:0001290	Generalized hypotonia	5393	EXOSC9	OMIM:618065
HP:0001290	Generalized hypotonia	80308	FLAD1	OMIM:255100
HP:0001290	Generalized hypotonia	2904	GRIN2B	OMIM:613970
HP:0001290	Generalized hypotonia	55624	POMGNT1	OMIM:253280
HP:0001290	Generalized hypotonia	85300	ATCAY	ORPHA:94122
HP:0001290	Generalized hypotonia	4758	NEU1	OMIM:256550
HP:0001290	Generalized hypotonia	9839	ZEB2	OMIM:235730
HP:0001290	Generalized hypotonia	79581	SLC52A2	OMIM:614707
HP:0001290	Generalized hypotonia	4867	NPHP1	OMIM:609583
HP:0001290	Generalized hypotonia	1291	COL6A1	ORPHA:75840
HP:0001290	Generalized hypotonia	1292	COL6A2	ORPHA:75840
HP:0001290	Generalized hypotonia	1293	COL6A3	ORPHA:75840
HP:0001290	Generalized hypotonia	3073	HEXA	OMIM:272800
HP:0001290	Generalized hypotonia	2617	GARS1	OMIM:619042
HP:0001290	Generalized hypotonia	51218	GLRX5	ORPHA:401866
HP:0001290	Generalized hypotonia	10479	SLC9A6	OMIM:300243
HP:0001290	Generalized hypotonia	8443	GNPAT	OMIM:222765
HP:0001290	Generalized hypotonia	6341	SCO1	OMIM:619048
HP:0001290	Generalized hypotonia	374654	KIF7	OMIM:200990
HP:0001290	Generalized hypotonia	374654	KIF7	ORPHA:2754
HP:0001290	Generalized hypotonia	89910	UBE3B	OMIM:244450
HP:0001290	Generalized hypotonia	6311	ATXN2	OMIM:183090
HP:0001290	Generalized hypotonia	6311	ATXN2	ORPHA:98756
HP:0001290	Generalized hypotonia	1352	COX10	OMIM:619046
HP:0001290	Generalized hypotonia	55788	LMBRD1	OMIM:277380
HP:0001290	Generalized hypotonia	3141	HLCS	OMIM:253270
HP:0001290	Generalized hypotonia	1763	DNA2	ORPHA:352470
HP:0001290	Generalized hypotonia	57582	KCNT1	OMIM:614959
HP:0001290	Generalized hypotonia	10225	CD96	OMIM:211750
HP:0001290	Generalized hypotonia	9382	COG1	ORPHA:263508
HP:0001290	Generalized hypotonia	3703	STT3A	ORPHA:370921
HP:0001290	Generalized hypotonia	29925	GMPPB	ORPHA:353327
HP:0001290	Generalized hypotonia	199857	ALG14	ORPHA:353327
HP:0001290	Generalized hypotonia	87178	PNPT1	ORPHA:319514
HP:0001290	Generalized hypotonia	1340	COX6B1	OMIM:619051
HP:0001290	Generalized hypotonia	1185	CLCN6	OMIM:619173
HP:0001290	Generalized hypotonia	1738	DLD	ORPHA:2394
HP:0001290	Generalized hypotonia	170302	ARX	OMIM:300215
HP:0001290	Generalized hypotonia	100131801	PET100	OMIM:619055
HP:0001290	Generalized hypotonia	84665	MYPN	ORPHA:171881
HP:0001290	Generalized hypotonia	84665	MYPN	ORPHA:171439
HP:0001290	Generalized hypotonia	7170	TPM3	ORPHA:171881
HP:0001290	Generalized hypotonia	7170	TPM3	ORPHA:171439
HP:0001290	Generalized hypotonia	3766	KCNJ10	OMIM:612780
HP:0001290	Generalized hypotonia	9739	SETD1A	OMIM:619056
HP:0001290	Generalized hypotonia	80204	FBXO11	OMIM:618089
HP:0001290	Generalized hypotonia	5119	CHMP1A	OMIM:614961
HP:0001290	Generalized hypotonia	23522	KAT6B	OMIM:606170
HP:0001290	Generalized hypotonia	966	CD59	OMIM:612300
HP:0001290	Generalized hypotonia	8792	TNFRSF11A	OMIM:612301
HP:0001290	Generalized hypotonia	5015	OTX2	OMIM:610125
HP:0001290	Generalized hypotonia	5238	PGM3	OMIM:615816
HP:0001290	Generalized hypotonia	7841	MOGS	OMIM:606056
HP:0001290	Generalized hypotonia	64087	MCCC2	OMIM:210210
HP:0001290	Generalized hypotonia	10716	TBR1	OMIM:606053
HP:0001290	Generalized hypotonia	1339	COX6A2	OMIM:619062
HP:0001290	Generalized hypotonia	1717	DHCR7	OMIM:270400
HP:0001290	Generalized hypotonia	23116	TOGARAM1	OMIM:619185
HP:0001290	Generalized hypotonia	1327	COX4I1	OMIM:619060
HP:0001290	Generalized hypotonia	26053	AUTS2	ORPHA:352490
HP:0001290	Generalized hypotonia	26053	AUTS2	OMIM:615834
HP:0001290	Generalized hypotonia	79813	EHMT1	OMIM:610253
HP:0001290	Generalized hypotonia	649	BMP1	OMIM:614856
HP:0001290	Generalized hypotonia	4598	MVK	OMIM:610377
HP:0001290	Generalized hypotonia	56922	MCCC1	OMIM:210200
HP:0001290	Generalized hypotonia	113235	SLC46A1	OMIM:229050
HP:0001290	Generalized hypotonia	63894	VIPAS39	OMIM:613404
HP:0001290	Generalized hypotonia	2752	GLUL	OMIM:610015
HP:0001290	Generalized hypotonia	1906	EDN1	ORPHA:137888
HP:0001290	Generalized hypotonia	5332	PLCB4	ORPHA:137888
HP:0001290	Generalized hypotonia	2773	GNAI3	ORPHA:137888
HP:0001290	Generalized hypotonia	54872	PIGG	OMIM:616917
HP:0001290	Generalized hypotonia	5728	PTEN	ORPHA:79076
HP:0001290	Generalized hypotonia	657	BMPR1A	ORPHA:79076
HP:0001290	Generalized hypotonia	26005	C2CD3	OMIM:615948
HP:0001290	Generalized hypotonia	5193	PEX12	OMIM:614859
HP:0001290	Generalized hypotonia	5193	PEX12	OMIM:266510
HP:0001290	Generalized hypotonia	53834	FGFRL1	OMIM:194190
HP:0001290	Generalized hypotonia	1487	CTBP1	OMIM:194190
HP:0001290	Generalized hypotonia	3954	LETM1	OMIM:194190
HP:0001290	Generalized hypotonia	7468	NSD2	OMIM:194190
HP:0001290	Generalized hypotonia	10815	CPLX1	OMIM:194190
HP:0001290	Generalized hypotonia	84947	SERAC1	OMIM:614739
HP:0001290	Generalized hypotonia	28976	ACAD9	ORPHA:99901
HP:0001290	Generalized hypotonia	28976	ACAD9	OMIM:611126
HP:0001290	Generalized hypotonia	7915	ALDH5A1	OMIM:271980
HP:0001290	Generalized hypotonia	2615	LRRC32	OMIM:619074
HP:0001290	Generalized hypotonia	4953	ODC1	OMIM:619075
HP:0001290	Generalized hypotonia	6792	CDKL5	OMIM:300672
HP:0001290	Generalized hypotonia	1629	DBT	OMIM:248600
HP:0001290	Generalized hypotonia	593	BCKDHA	OMIM:248600
HP:0001290	Generalized hypotonia	594	BCKDHB	OMIM:248600
HP:0001290	Generalized hypotonia	3028	HSD17B10	OMIM:300438
HP:0001290	Generalized hypotonia	51660	MPC1	OMIM:614741
HP:0001290	Generalized hypotonia	5190	PEX6	OMIM:614862
HP:0001290	Generalized hypotonia	5190	PEX6	OMIM:614863
HP:0001290	Generalized hypotonia	6660	SOX5	OMIM:616803
HP:0001290	Generalized hypotonia	5828	PEX2	OMIM:614867
HP:0001290	Generalized hypotonia	285175	UNC80	OMIM:616801
HP:0001290	Generalized hypotonia	10290	SPEG	OMIM:615959
HP:0001290	Generalized hypotonia	10290	SPEG	ORPHA:169186
HP:0001290	Generalized hypotonia	90624	LYRM7	OMIM:615838
HP:0001290	Generalized hypotonia	10056	FARSB	OMIM:613658
HP:0001290	Generalized hypotonia	3748	KCNC3	ORPHA:98768
HP:0001290	Generalized hypotonia	11128	POLR3A	OMIM:264090
HP:0001290	Generalized hypotonia	5582	PRKCG	ORPHA:98763
HP:0001290	Generalized hypotonia	55343	SLC35C1	OMIM:266265
HP:0001290	Generalized hypotonia	55343	SLC35C1	ORPHA:99843
HP:0001290	Generalized hypotonia	6558	SLC12A2	OMIM:619083
HP:0001290	Generalized hypotonia	6558	SLC12A2	OMIM:619080
HP:0001290	Generalized hypotonia	25814	ATXN10	ORPHA:98761
HP:0001290	Generalized hypotonia	8905	AP1S2	ORPHA:85329
HP:0001290	Generalized hypotonia	64419	MTMR14	OMIM:160150
HP:0001290	Generalized hypotonia	64419	MTMR14	ORPHA:169189
HP:0001290	Generalized hypotonia	5594	MAPK1	OMIM:619087
HP:0001290	Generalized hypotonia	284217	LAMA1	OMIM:615960
HP:0001290	Generalized hypotonia	64135	IFIH1	OMIM:615846
HP:0001290	Generalized hypotonia	64135	IFIH1	OMIM:182250
HP:0001290	Generalized hypotonia	5340	PLG	OMIM:217090
HP:0001290	Generalized hypotonia	10472	ZBTB18	OMIM:612337
HP:0001290	Generalized hypotonia	25828	TXN2	OMIM:616811
HP:0001290	Generalized hypotonia	9409	PEX16	OMIM:614876
HP:0001290	Generalized hypotonia	51085	MLXIPL	OMIM:194050
HP:0001290	Generalized hypotonia	2006	ELN	OMIM:194050
HP:0001290	Generalized hypotonia	6310	ATXN1	ORPHA:98755
HP:0001290	Generalized hypotonia	6310	ATXN1	OMIM:164400
HP:0001290	Generalized hypotonia	5092	PCBD1	OMIM:264070
HP:0001290	Generalized hypotonia	4677	NARS1	OMIM:619091
HP:0001290	Generalized hypotonia	4677	NARS1	OMIM:619092
HP:0001290	Generalized hypotonia	8813	DPM1	OMIM:608799
HP:0001290	Generalized hypotonia	81031	SLC2A10	OMIM:208050
HP:0001290	Generalized hypotonia	9147	NEMF	OMIM:619099
HP:0001290	Generalized hypotonia	10743	RAI1	OMIM:182290
HP:0001290	Generalized hypotonia	27086	FOXP1	OMIM:613670
HP:0001290	Generalized hypotonia	26047	CNTNAP2	OMIM:610042
HP:0001290	Generalized hypotonia	10735	STAG2	ORPHA:521258
HP:0001290	Generalized hypotonia	10735	STAG2	OMIM:301022
HP:0001290	Generalized hypotonia	8504	PEX3	OMIM:614882
HP:0001290	Generalized hypotonia	6389	SDHA	ORPHA:3208
HP:0001290	Generalized hypotonia	6392	SDHD	ORPHA:3208
HP:0001290	Generalized hypotonia	644096	SDHAF1	ORPHA:3208
HP:0001290	Generalized hypotonia	1374	CPT1A	OMIM:255120
HP:0001290	Generalized hypotonia	6611	SMS	OMIM:309583
HP:0001290	Generalized hypotonia	7317	UBA1	ORPHA:1145
HP:0001290	Generalized hypotonia	9928	KIF14	OMIM:617914
HP:0001290	Generalized hypotonia	390594	KBTBD13	ORPHA:171439
HP:0001290	Generalized hypotonia	4703	NEB	ORPHA:171439
HP:0001290	Generalized hypotonia	10324	KLHL41	ORPHA:171439
HP:0001290	Generalized hypotonia	2146	EZH2	OMIM:277590
HP:0001290	Generalized hypotonia	5195	PEX14	OMIM:614887
HP:0001290	Generalized hypotonia	147007	TMEM199	OMIM:616829
HP:0001290	Generalized hypotonia	51322	WAC	OMIM:616708
HP:0001290	Generalized hypotonia	84317	CCDC115	OMIM:616828
HP:0001290	Generalized hypotonia	701	BUB1B	OMIM:257300
HP:0001290	Generalized hypotonia	28962	OSTM1	OMIM:259720
HP:0001290	Generalized hypotonia	54463	RETREG1	OMIM:201300
HP:0001290	Generalized hypotonia	65125	WNK1	OMIM:201300
HP:0001290	Generalized hypotonia	6335	SCN9A	OMIM:201300
HP:0001290	Generalized hypotonia	547	KIF1A	OMIM:201300
HP:0001290	Generalized hypotonia	547	KIF1A	OMIM:614255
HP:0001290	Generalized hypotonia	667	DST	OMIM:614653
HP:0001290	Generalized hypotonia	2033	EP300	OMIM:613684
HP:0001290	Generalized hypotonia	10243	GPHN	OMIM:615501
HP:0001290	Generalized hypotonia	29072	SETD2	OMIM:616831
HP:0001290	Generalized hypotonia	57017	COQ9	OMIM:614654
HP:0001290	Generalized hypotonia	7407	VARS1	OMIM:617802
HP:0001290	Generalized hypotonia	196528	ARID2	OMIM:617808
HP:0001290	Generalized hypotonia	1861	TOR1A	OMIM:128100
HP:0001290	Generalized hypotonia	1861	TOR1A	OMIM:618947
HP:0001290	Generalized hypotonia	56052	ALG1	OMIM:608540
HP:0001290	Generalized hypotonia	54704	PDP1	OMIM:608782
HP:0001290	Generalized hypotonia	10075	HUWE1	OMIM:309590
HP:0001290	Generalized hypotonia	6309	SC5D	OMIM:607330
HP:0001290	Generalized hypotonia	8518	ELP1	OMIM:223900
HP:0001290	Generalized hypotonia	274	BIN1	ORPHA:169186
HP:0001290	Generalized hypotonia	274	BIN1	ORPHA:169189
HP:0001290	Generalized hypotonia	5979	RET	OMIM:162300
HP:0001290	Generalized hypotonia	55906	ZC4H2	OMIM:301041
HP:0001290	Generalized hypotonia	55906	ZC4H2	OMIM:314580
HP:0001290	Generalized hypotonia	91949	COG7	OMIM:608779
HP:0001290	Generalized hypotonia	8243	SMC1A	OMIM:301044
HP:0001290	Generalized hypotonia	3033	HADH	OMIM:231530
HP:0001290	Generalized hypotonia	2632	GBE1	OMIM:232500
HP:0001290	Generalized hypotonia	7167	TPI1	OMIM:615512
HP:0001290	Generalized hypotonia	9698	PUM1	OMIM:617931
HP:0001290	Generalized hypotonia	1305	COL13A1	OMIM:616720
HP:0001290	Generalized hypotonia	29926	GMPPA	OMIM:615510
HP:0001290	Generalized hypotonia	2290	FOXG1	OMIM:613454
HP:0001290	Generalized hypotonia	80184	CEP290	OMIM:610188
HP:0001290	Generalized hypotonia	65062	TMEM237	OMIM:614424
HP:0001290	Generalized hypotonia	53616	ADAM22	OMIM:617933
HP:0001290	Generalized hypotonia	85358	SHANK3	OMIM:606232
HP:0001290	Generalized hypotonia	79796	ALG9	OMIM:608776
HP:0001290	Generalized hypotonia	23028	KDM1A	OMIM:616728
HP:0001290	Generalized hypotonia	6571	SLC18A2	ORPHA:352649
HP:0001290	Generalized hypotonia	27249	MMADHC	OMIM:277410
HP:0001290	Generalized hypotonia	26115	TANC2	OMIM:618906
HP:0001290	Generalized hypotonia	4618	MYF6	ORPHA:169189
HP:0001290	Generalized hypotonia	91147	TMEM67	OMIM:216360
HP:0001290	Generalized hypotonia	57465	TBC1D24	OMIM:220500
HP:0001290	Generalized hypotonia	5160	PDHA1	OMIM:312170
HP:0001290	Generalized hypotonia	84162	BLTP1	OMIM:617822
HP:0001290	Generalized hypotonia	473	RERE	OMIM:616975
HP:0001290	Generalized hypotonia	10229	COQ7	OMIM:616733
HP:0001290	Generalized hypotonia	23291	FBXW11	OMIM:618914
HP:0001290	Generalized hypotonia	4893	NRAS	OMIM:613224
HP:0001290	Generalized hypotonia	22880	MORC2	ORPHA:466768
HP:0001290	Generalized hypotonia	7280	TUBB2A	OMIM:615763
HP:0001290	Generalized hypotonia	998	CDC42	OMIM:616737
HP:0001290	Generalized hypotonia	10982	MAPRE2	OMIM:616734
HP:0001290	Generalized hypotonia	51010	EXOSC3	OMIM:614678
HP:0001290	Generalized hypotonia	64221	ROBO3	OMIM:607313
HP:0001290	Generalized hypotonia	3778	KCNMA1	ORPHA:79137
HP:0001290	Generalized hypotonia	3778	KCNMA1	OMIM:617643
HP:0001290	Generalized hypotonia	84679	SLC9A7	OMIM:301024
HP:0001290	Generalized hypotonia	2895	GRID2	ORPHA:363432
HP:0001290	Generalized hypotonia	4694	NDUFA1	OMIM:301020
HP:0001290	Generalized hypotonia	7874	USP7	OMIM:616863
HP:0001290	Generalized hypotonia	6709	SPTAN1	OMIM:613477
HP:0001290	Generalized hypotonia	91137	SLC25A46	OMIM:616505
HP:0001290	Generalized hypotonia	9378	NRXN1	OMIM:614325
HP:0001290	Generalized hypotonia	51008	ASCC1	OMIM:616867
HP:0001290	Generalized hypotonia	6606	SMN1	OMIM:253300
HP:0001290	Generalized hypotonia	4594	MMUT	OMIM:251000
HP:0001290	Generalized hypotonia	10943	MSL3	OMIM:301032
HP:0001290	Generalized hypotonia	1105	CHD1	ORPHA:529965
HP:0001290	Generalized hypotonia	5147	PDE6D	OMIM:615665
HP:0001290	Generalized hypotonia	5147	PDE6D	ORPHA:2754
HP:0001290	Generalized hypotonia	57511	COG6	OMIM:614576
HP:0001290	Generalized hypotonia	23065	EMC1	OMIM:616875
HP:0001290	Generalized hypotonia	7421	VDR	OMIM:277440
HP:0001290	Generalized hypotonia	128637	TBC1D20	OMIM:615663
HP:0001290	Generalized hypotonia	175	AGA	OMIM:208400
HP:0001290	Generalized hypotonia	2475	MTOR	OMIM:616638
HP:0001290	Generalized hypotonia	128989	TANGO2	OMIM:616878
HP:0001290	Generalized hypotonia	57531	HACE1	OMIM:616756
HP:0001290	Generalized hypotonia	4644	MYO5A	ORPHA:79476
HP:0001290	Generalized hypotonia	326625	MMAB	OMIM:251110
HP:0001290	Generalized hypotonia	60	ACTB	OMIM:243310
HP:0001290	Generalized hypotonia	2464	FRA16E	OMIM:136570
HP:0001290	Generalized hypotonia	11019	LIAS	OMIM:614462
HP:0001290	Generalized hypotonia	1859	DYRK1A	OMIM:614104
HP:0001290	Generalized hypotonia	23443	SLC35A3	OMIM:615553
HP:0001290	Generalized hypotonia	95681	CEP41	OMIM:614464
HP:0001290	Generalized hypotonia	29957	SLC25A24	OMIM:612289
HP:0001290	Generalized hypotonia	64857	PLEKHG2	OMIM:616763
HP:0001290	Generalized hypotonia	51520	LARS1	OMIM:615438
HP:0001290	Generalized hypotonia	8936	WASF1	OMIM:618707
HP:0001290	Generalized hypotonia	10128	LRPPRC	ORPHA:70472
HP:0001290	Generalized hypotonia	23545	ATP6V0A2	OMIM:219200
HP:0001290	Generalized hypotonia	26503	SLC17A5	OMIM:604369
HP:0001290	Generalized hypotonia	26503	SLC17A5	OMIM:269920
HP:0001290	Generalized hypotonia	55617	TASP1	OMIM:618950
HP:0001290	Generalized hypotonia	200894	ARL13B	OMIM:612291
HP:0001290	Generalized hypotonia	5162	PDHB	OMIM:614111
HP:0001290	Generalized hypotonia	83737	ITCH	OMIM:613385
HP:0001290	Generalized hypotonia	92335	STRADA	OMIM:611087
HP:0001290	Generalized hypotonia	28957	MRPS28	OMIM:618958
HP:0001290	Generalized hypotonia	2670	GFAP	ORPHA:363717
HP:0001290	Generalized hypotonia	1605	DAG1	OMIM:616538
HP:0001290	Generalized hypotonia	5500	PPP1CB	OMIM:617506
HP:0001290	Generalized hypotonia	5376	PMP22	ORPHA:98916
HP:0001290	Generalized hypotonia	9215	LARGE1	OMIM:608840
HP:0001290	Generalized hypotonia	9215	LARGE1	OMIM:613154
HP:0001290	Generalized hypotonia	8292	COLQ	OMIM:603034
HP:0001290	Generalized hypotonia	617	BCS1L	OMIM:124000
HP:0001290	Generalized hypotonia	3756	KCNH1	ORPHA:420561
HP:0001290	Generalized hypotonia	139285	AMER1	OMIM:300373
HP:0001290	Generalized hypotonia	9897	WASHC5	OMIM:220210
HP:0001290	Generalized hypotonia	6497	SKI	OMIM:182212
HP:0001290	Generalized hypotonia	95	ACY1	OMIM:609924
HP:0001290	Generalized hypotonia	54802	TRIT1	OMIM:617873
HP:0001290	Generalized hypotonia	23247	KATNIP	OMIM:616784
HP:0001290	Generalized hypotonia	9731	CEP104	OMIM:616781
HP:0001290	Generalized hypotonia	51780	KDM3B	OMIM:618846
HP:0001290	Generalized hypotonia	5538	PPT1	OMIM:256730
HP:0001290	Generalized hypotonia	1663	DDX11	OMIM:613398
HP:0001290	Generalized hypotonia	29954	POMT2	OMIM:613156
HP:0001290	Generalized hypotonia	51317	PHF21A	OMIM:618725
HP:0001290	Generalized hypotonia	5455	POU3F3	OMIM:618604
HP:0001290	Generalized hypotonia	2186	BPTF	OMIM:617755
HP:0001290	Generalized hypotonia	738	VPS51	OMIM:618606
HP:0001290	Generalized hypotonia	84700	MYO18B	OMIM:616549
HP:0001290	Generalized hypotonia	23389	MED13L	OMIM:616789
HP:0001290	Generalized hypotonia	5430	POLR2A	OMIM:618603
HP:0001290	Generalized hypotonia	1585	CYP11B2	ORPHA:556030
HP:0001290	Generalized hypotonia	57731	SPTBN4	OMIM:617519
HP:0001290	Generalized hypotonia	4848	CNOT2	OMIM:618608
HP:0001290	Generalized hypotonia	2639	GCDH	OMIM:231670
HP:0001290	Generalized hypotonia	10210	TOPORS	ORPHA:2754
HP:0001290	Generalized hypotonia	9851	KIAA0753	ORPHA:2754
HP:0001290	Generalized hypotonia	26123	TCTN3	ORPHA:2754
HP:0001290	Generalized hypotonia	51259	TMEM216	ORPHA:2754
HP:0001290	Generalized hypotonia	8481	OFD1	ORPHA:2754
HP:0001290	Generalized hypotonia	317662	FAM149B1	ORPHA:2754
HP:0001290	Generalized hypotonia	9469	CHST3	OMIM:245600
HP:0001290	Generalized hypotonia	26229	B3GAT3	OMIM:245600
HP:0001290	Generalized hypotonia	1468	SLC25A10	OMIM:618972
HP:0001290	Generalized hypotonia	1968	EIF2S3	OMIM:300148
HP:0001290	Generalized hypotonia	5087	PBX1	OMIM:617641
HP:0001290	Generalized hypotonia	115286	SLC25A26	OMIM:616794
HP:0001290	Generalized hypotonia	92935	MARS2	OMIM:616430
HP:0001290	Generalized hypotonia	6833	ABCC8	OMIM:618857
HP:0001290	Generalized hypotonia	8398	PLA2G6	OMIM:256600
HP:0001290	Generalized hypotonia	4858	NOVA2	OMIM:618859
HP:0001290	Generalized hypotonia	529	ATP6V1E1	OMIM:617402
HP:0001290	Generalized hypotonia	25871	NEPRO	OMIM:618853
HP:0001290	Generalized hypotonia	1460	CSNK2B	OMIM:618732
HP:0001290	Generalized hypotonia	4654	MYOD1	OMIM:618975
HP:0001290	Generalized hypotonia	8449	DHX16	OMIM:618733
HP:0001290	Generalized hypotonia	22868	FASTKD2	OMIM:618855
HP:0001290	Generalized hypotonia	58508	KMT2C	OMIM:617768
HP:0001290	Generalized hypotonia	58499	ZNF462	OMIM:618619
HP:0001290	Generalized hypotonia	25974	MMACHC	OMIM:277400
HP:0001290	Generalized hypotonia	5052	PRDX1	OMIM:277400
HP:0001290	Generalized hypotonia	2582	GALE	OMIM:230350
HP:0001290	Generalized hypotonia	1103	CHAT	OMIM:254210
HP:0001290	Generalized hypotonia	1145	CHRNE	OMIM:605809
HP:0001290	Generalized hypotonia	6507	SLC1A3	OMIM:612656
HP:0001293	Cranial nerve compression	4221	MEN1	ORPHA:652
HP:0001293	Cranial nerve compression	1027	CDKN1B	ORPHA:652
HP:0001293	Cranial nerve compression	1026	CDKN1A	ORPHA:652
HP:0001293	Cranial nerve compression	1030	CDKN2B	ORPHA:652
HP:0001293	Cranial nerve compression	1031	CDKN2C	ORPHA:652
HP:0001293	Cranial nerve compression	7040	TGFB1	OMIM:131300
HP:0001293	Cranial nerve compression	22943	DKK1	ORPHA:268882
HP:0001293	Cranial nerve compression	4038	LRP4	OMIM:614305
HP:0001293	Cranial nerve compression	7428	VHL	ORPHA:29072
HP:0001293	Cranial nerve compression	7428	VHL	ORPHA:276621
HP:0001293	Cranial nerve compression	1743	DLST	ORPHA:29072
HP:0001293	Cranial nerve compression	4191	MDH2	ORPHA:29072
HP:0001293	Cranial nerve compression	5979	RET	ORPHA:29072
HP:0001293	Cranial nerve compression	5979	RET	ORPHA:276621
HP:0001293	Cranial nerve compression	6389	SDHA	ORPHA:29072
HP:0001293	Cranial nerve compression	23095	KIF1B	ORPHA:29072
HP:0001293	Cranial nerve compression	2271	FH	ORPHA:29072
HP:0001293	Cranial nerve compression	8402	SLC25A11	ORPHA:29072
HP:0001293	Cranial nerve compression	54949	SDHAF2	ORPHA:29072
HP:0001293	Cranial nerve compression	55654	TMEM127	ORPHA:29072
HP:0001293	Cranial nerve compression	4763	NF1	ORPHA:29072
HP:0001293	Cranial nerve compression	6391	SDHC	ORPHA:29072
HP:0001293	Cranial nerve compression	6392	SDHD	ORPHA:29072
HP:0001293	Cranial nerve compression	6392	SDHD	ORPHA:276621
HP:0001293	Cranial nerve compression	6390	SDHB	ORPHA:29072
HP:0001293	Cranial nerve compression	6390	SDHB	ORPHA:276621
HP:0001293	Cranial nerve compression	4149	MAX	ORPHA:29072
HP:0001293	Cranial nerve compression	1788	DNMT3A	ORPHA:276621
HP:0001293	Cranial nerve compression	2034	EPAS1	ORPHA:276621
HP:0001293	Cranial nerve compression	760	CA2	ORPHA:2785
HP:0001293	Cranial nerve compression	3178	HNRNPA1	ORPHA:52430
HP:0001293	Cranial nerve compression	7415	VCP	ORPHA:52430
HP:0001293	Cranial nerve compression	3181	HNRNPA2B1	ORPHA:52430
HP:0001293	Cranial nerve compression	10312	TCIRG1	OMIM:259700
HP:0001293	Cranial nerve compression	79628	SH3TC2	ORPHA:99949
HP:0001293	Cranial nerve compression	27247	NFU1	OMIM:605711
HP:0001293	Cranial nerve compression	1282	COL4A1	OMIM:175780
HP:0001293	Cranial nerve compression	91574	MTRFR	OMIM:613559
HP:0001293	Cranial nerve compression	1186	CLCN7	OMIM:166600
HP:0001293	Cranial nerve compression	773	CACNA1A	ORPHA:569
HP:0001293	Cranial nerve compression	112476	PRRT2	ORPHA:569
HP:0001293	Cranial nerve compression	6323	SCN1A	ORPHA:569
HP:0001293	Cranial nerve compression	477	ATP1A2	ORPHA:569
HP:0001293	Cranial nerve compression	8600	TNFSF11	OMIM:259710
HP:0001293	Cranial nerve compression	79639	TMEM53	OMIM:619727
HP:0001293	Cranial nerve compression	8792	TNFRSF11A	OMIM:612301
HP:0001293	Cranial nerve compression	84196	USP48	ORPHA:96253
HP:0001293	Cranial nerve compression	7157	TP53	ORPHA:96253
HP:0001293	Cranial nerve compression	9101	USP8	ORPHA:96253
HP:0001293	Cranial nerve compression	64072	CDH23	ORPHA:96253
HP:0001293	Cranial nerve compression	2908	NR3C1	ORPHA:96253
HP:0001293	Cranial nerve compression	673	BRAF	ORPHA:96253
HP:0001293	Cranial nerve compression	546	ATRX	ORPHA:96253
HP:0001293	Cranial nerve compression	29887	SNX10	ORPHA:667
HP:0001293	Cranial nerve compression	9842	PLEKHM1	ORPHA:210110
HP:0001337	Tremor	6095	RORA	OMIM:618060
HP:0001337	Tremor	5621	PRNP	ORPHA:282166
HP:0001337	Tremor	5621	PRNP	OMIM:137440
HP:0001337	Tremor	10128	LRPPRC	OMIM:220111
HP:0001337	Tremor	7528	YY1	ORPHA:506358
HP:0001337	Tremor	7528	YY1	OMIM:617557
HP:0001337	Tremor	7528	YY1	ORPHA:97279
HP:0001337	Tremor	8450	CUL4B	OMIM:300354
HP:0001337	Tremor	8450	CUL4B	ORPHA:85293
HP:0001337	Tremor	60684	TRAPPC11	OMIM:615356
HP:0001337	Tremor	4860	PNP	OMIM:613179
HP:0001337	Tremor	123263	MTFMT	OMIM:614947
HP:0001337	Tremor	51816	ADA2	ORPHA:820
HP:0001337	Tremor	51816	ADA2	OMIM:182410
HP:0001337	Tremor	2072	ERCC4	ORPHA:90321
HP:0001337	Tremor	2072	ERCC4	OMIM:278760
HP:0001337	Tremor	64324	NSD1	ORPHA:821
HP:0001337	Tremor	29072	SETD2	ORPHA:821
HP:0001337	Tremor	10297	APC2	ORPHA:821
HP:0001337	Tremor	5631	PRPS1	ORPHA:99014
HP:0001337	Tremor	1639	DCTN1	ORPHA:178509
HP:0001337	Tremor	1639	DCTN1	OMIM:168605
HP:0001337	Tremor	3074	HEXB	ORPHA:309169
HP:0001337	Tremor	65993	MRPS34	OMIM:617664
HP:0001337	Tremor	8722	CTSF	OMIM:615362
HP:0001337	Tremor	56997	COQ8A	ORPHA:139485
HP:0001337	Tremor	56997	COQ8A	OMIM:612016
HP:0001337	Tremor	23322	RPGRIP1L	ORPHA:220497
HP:0001337	Tremor	23322	RPGRIP1L	ORPHA:1454
HP:0001337	Tremor	4867	NPHP1	ORPHA:220497
HP:0001337	Tremor	65062	TMEM237	ORPHA:220497
HP:0001337	Tremor	65062	TMEM237	ORPHA:475
HP:0001337	Tremor	101060691	NUTM2B-AS1	OMIM:618637
HP:0001337	Tremor	54806	AHI1	ORPHA:220493
HP:0001337	Tremor	54806	AHI1	ORPHA:475
HP:0001337	Tremor	56623	INPP5E	ORPHA:220493
HP:0001337	Tremor	56623	INPP5E	ORPHA:475
HP:0001337	Tremor	56623	INPP5E	ORPHA:1454
HP:0001337	Tremor	153241	CEP120	ORPHA:220493
HP:0001337	Tremor	153241	CEP120	ORPHA:475
HP:0001337	Tremor	54903	MKS1	ORPHA:220493
HP:0001337	Tremor	54903	MKS1	ORPHA:475
HP:0001337	Tremor	95681	CEP41	ORPHA:220493
HP:0001337	Tremor	95681	CEP41	ORPHA:475
HP:0001337	Tremor	5610	EIF2AK2	OMIM:618877
HP:0001337	Tremor	2911	GRM1	OMIM:614831
HP:0001337	Tremor	4758	NEU1	ORPHA:812
HP:0001337	Tremor	60482	SLC5A7	OMIM:158580
HP:0001337	Tremor	1600	DAB1	ORPHA:363710
HP:0001337	Tremor	1600	DAB1	OMIM:615945
HP:0001337	Tremor	55154	MSTO1	OMIM:617675
HP:0001337	Tremor	55154	MSTO1	ORPHA:502423
HP:0001337	Tremor	103	ADAR	OMIM:615010
HP:0001337	Tremor	103	ADAR	ORPHA:51
HP:0001337	Tremor	64834	ELOVL1	OMIM:618527
HP:0001337	Tremor	9692	PRORP	OMIM:619737
HP:0001337	Tremor	3064	HTT	OMIM:617435
HP:0001337	Tremor	55157	DARS2	ORPHA:137898
HP:0001337	Tremor	55157	DARS2	OMIM:611105
HP:0001337	Tremor	5173	PDYN	OMIM:610245
HP:0001337	Tremor	6575	SLC20A2	OMIM:213600
HP:0001337	Tremor	5159	PDGFRB	OMIM:213600
HP:0001337	Tremor	7428	VHL	ORPHA:276621
HP:0001337	Tremor	7428	VHL	ORPHA:29072
HP:0001337	Tremor	5979	RET	ORPHA:276621
HP:0001337	Tremor	5979	RET	ORPHA:29072
HP:0001337	Tremor	1788	DNMT3A	ORPHA:276621
HP:0001337	Tremor	2034	EPAS1	ORPHA:276621
HP:0001337	Tremor	6392	SDHD	ORPHA:276621
HP:0001337	Tremor	6392	SDHD	ORPHA:29072
HP:0001337	Tremor	6390	SDHB	ORPHA:276621
HP:0001337	Tremor	6390	SDHB	ORPHA:29072
HP:0001337	Tremor	29967	LRP12	OMIM:164310
HP:0001337	Tremor	10157	AASS	ORPHA:3124
HP:0001337	Tremor	10157	AASS	ORPHA:2203
HP:0001337	Tremor	1130	LYST	ORPHA:167
HP:0001337	Tremor	1130	LYST	OMIM:214500
HP:0001337	Tremor	1678	TIMM8A	OMIM:304700
HP:0001337	Tremor	1678	TIMM8A	ORPHA:52368
HP:0001337	Tremor	7274	TTPA	ORPHA:96
HP:0001337	Tremor	7466	WFS1	OMIM:222300
HP:0001337	Tremor	80856	LNPK	OMIM:618090
HP:0001337	Tremor	23203	PMPCA	ORPHA:1170
HP:0001337	Tremor	23203	PMPCA	OMIM:213200
HP:0001337	Tremor	83636	C19orf12	OMIM:614298
HP:0001337	Tremor	54840	APTX	OMIM:208920
HP:0001337	Tremor	27429	HTRA2	ORPHA:2828
HP:0001337	Tremor	27429	HTRA2	OMIM:610297
HP:0001337	Tremor	27429	HTRA2	OMIM:617248
HP:0001337	Tremor	5071	PRKN	ORPHA:2828
HP:0001337	Tremor	5071	PRKN	OMIM:600116
HP:0001337	Tremor	3737	KCNA2	ORPHA:442835
HP:0001337	Tremor	3737	KCNA2	OMIM:616366
HP:0001337	Tremor	1759	DNM1	ORPHA:442835
HP:0001337	Tremor	8120	AP3B2	ORPHA:442835
HP:0001337	Tremor	523	ATP6V1A	ORPHA:442835
HP:0001337	Tremor	10991	SLC38A3	ORPHA:442835
HP:0001337	Tremor	51343	FZR1	ORPHA:442835
HP:0001337	Tremor	22906	TRAK1	ORPHA:442835
HP:0001337	Tremor	1917	EEF1A2	ORPHA:442835
HP:0001337	Tremor	2561	GABRB2	ORPHA:442835
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:442835
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:1942
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:544254
HP:0001337	Tremor	79876	UBA5	ORPHA:442835
HP:0001337	Tremor	6328	SCN3A	ORPHA:442835
HP:0001337	Tremor	2558	GABRA5	ORPHA:442835
HP:0001337	Tremor	781	CACNA2D1	ORPHA:442835
HP:0001337	Tremor	2906	GRIN2D	ORPHA:442835
HP:0001337	Tremor	2906	GRIN2D	OMIM:617162
HP:0001337	Tremor	116150	NUS1	ORPHA:442835
HP:0001337	Tremor	116150	NUS1	OMIM:617831
HP:0001337	Tremor	10659	CELF2	ORPHA:442835
HP:0001337	Tremor	10659	CELF2	OMIM:619561
HP:0001337	Tremor	774	CACNA1B	ORPHA:442835
HP:0001337	Tremor	1213	CLTC	ORPHA:442835
HP:0001337	Tremor	51741	WWOX	ORPHA:442835
HP:0001337	Tremor	23334	SZT2	ORPHA:442835
HP:0001337	Tremor	51412	ACTL6B	ORPHA:442835
HP:0001337	Tremor	348980	HCN1	ORPHA:442835
HP:0001337	Tremor	348980	HCN1	ORPHA:36387
HP:0001337	Tremor	6506	SLC1A2	ORPHA:442835
HP:0001337	Tremor	2258	FGF13	ORPHA:442835
HP:0001337	Tremor	477	ATP1A2	ORPHA:442835
HP:0001337	Tremor	477	ATP1A2	OMIM:602481
HP:0001337	Tremor	477	ATP1A2	ORPHA:2131
HP:0001337	Tremor	3745	KCNB1	ORPHA:442835
HP:0001337	Tremor	284111	SLC13A5	ORPHA:442835
HP:0001337	Tremor	25977	NECAP1	ORPHA:442835
HP:0001337	Tremor	16	AARS1	ORPHA:442835
HP:0001337	Tremor	6334	SCN8A	ORPHA:442835
HP:0001337	Tremor	22866	CNKSR2	ORPHA:442835
HP:0001337	Tremor	2555	GABRA2	ORPHA:442835
HP:0001337	Tremor	55152	DALRD3	ORPHA:442835
HP:0001337	Tremor	26999	CYFIP2	ORPHA:442835
HP:0001337	Tremor	4915	NTRK2	ORPHA:442835
HP:0001337	Tremor	25973	PARS2	ORPHA:442835
HP:0001337	Tremor	23097	CDK19	ORPHA:442835
HP:0001337	Tremor	64801	ARV1	ORPHA:442835
HP:0001337	Tremor	79947	DHDDS	ORPHA:442835
HP:0001337	Tremor	79947	DHDDS	OMIM:617836
HP:0001337	Tremor	2257	FGF12	ORPHA:442835
HP:0001337	Tremor	5530	PPP3CA	ORPHA:442835
HP:0001337	Tremor	5230	PGK1	ORPHA:713
HP:0001337	Tremor	112755	STX1B	ORPHA:36387
HP:0001337	Tremor	2563	GABRD	ORPHA:36387
HP:0001337	Tremor	84059	ADGRV1	ORPHA:36387
HP:0001337	Tremor	79600	TCTN1	ORPHA:475
HP:0001337	Tremor	79848	CSPP1	ORPHA:475
HP:0001337	Tremor	51684	SUFU	ORPHA:475
HP:0001337	Tremor	65250	CPLANE1	ORPHA:475
HP:0001337	Tremor	65250	CPLANE1	ORPHA:2754
HP:0001337	Tremor	65250	CPLANE1	ORPHA:65684
HP:0001337	Tremor	91147	TMEM67	ORPHA:475
HP:0001337	Tremor	91147	TMEM67	ORPHA:1454
HP:0001337	Tremor	200894	ARL13B	ORPHA:475
HP:0001337	Tremor	9731	CEP104	ORPHA:475
HP:0001337	Tremor	219844	HYLS1	ORPHA:475
HP:0001337	Tremor	23247	KATNIP	ORPHA:475
HP:0001337	Tremor	219854	TMEM218	ORPHA:475
HP:0001337	Tremor	9786	KIAA0586	ORPHA:475
HP:0001337	Tremor	79867	TCTN2	ORPHA:475
HP:0001337	Tremor	80776	B9D2	ORPHA:475
HP:0001337	Tremor	10464	PIBF1	ORPHA:475
HP:0001337	Tremor	80210	ARMC9	ORPHA:475
HP:0001337	Tremor	23116	TOGARAM1	ORPHA:475
HP:0001337	Tremor	25776	CBY1	ORPHA:475
HP:0001337	Tremor	27077	B9D1	ORPHA:475
HP:0001337	Tremor	403	ARL3	ORPHA:475
HP:0001337	Tremor	1798	DPAGT1	ORPHA:86309
HP:0001337	Tremor	1798	DPAGT1	OMIM:608093
HP:0001337	Tremor	9131	AIFM1	ORPHA:101078
HP:0001337	Tremor	9131	AIFM1	ORPHA:83629
HP:0001337	Tremor	1743	DLST	ORPHA:29072
HP:0001337	Tremor	4191	MDH2	ORPHA:29072
HP:0001337	Tremor	6389	SDHA	ORPHA:29072
HP:0001337	Tremor	23095	KIF1B	ORPHA:29072
HP:0001337	Tremor	2271	FH	ORPHA:29072
HP:0001337	Tremor	8402	SLC25A11	ORPHA:29072
HP:0001337	Tremor	54949	SDHAF2	ORPHA:29072
HP:0001337	Tremor	55654	TMEM127	ORPHA:29072
HP:0001337	Tremor	4763	NF1	ORPHA:29072
HP:0001337	Tremor	6391	SDHC	ORPHA:29072
HP:0001337	Tremor	4149	MAX	ORPHA:29072
HP:0001337	Tremor	5828	PEX2	OMIM:614867
HP:0001337	Tremor	6804	STX1A	ORPHA:904
HP:0001337	Tremor	7461	CLIP2	ORPHA:904
HP:0001337	Tremor	8468	FKBP6	ORPHA:904
HP:0001337	Tremor	5982	RFC2	ORPHA:904
HP:0001337	Tremor	2969	GTF2I	ORPHA:904
HP:0001337	Tremor	3984	LIMK1	ORPHA:904
HP:0001337	Tremor	9569	GTF2IRD1	ORPHA:904
HP:0001337	Tremor	155382	VPS37D	ORPHA:904
HP:0001337	Tremor	155368	METTL27	ORPHA:904
HP:0001337	Tremor	114049	BUD23	ORPHA:904
HP:0001337	Tremor	7458	EIF4H	ORPHA:904
HP:0001337	Tremor	84163	GTF2IRD2	ORPHA:904
HP:0001337	Tremor	9275	BCL7B	ORPHA:904
HP:0001337	Tremor	26608	TBL2	ORPHA:904
HP:0001337	Tremor	653361	NCF1	ORPHA:904
HP:0001337	Tremor	135886	TMEM270	ORPHA:904
HP:0001337	Tremor	51085	MLXIPL	ORPHA:904
HP:0001337	Tremor	9031	BAZ1B	ORPHA:904
HP:0001337	Tremor	2006	ELN	ORPHA:904
HP:0001337	Tremor	7701	ZNF142	OMIM:618425
HP:0001337	Tremor	2073	ERCC5	OMIM:278780
HP:0001337	Tremor	10846	PDE10A	OMIM:616921
HP:0001337	Tremor	10846	PDE10A	ORPHA:494526
HP:0001337	Tremor	6507	SLC1A3	ORPHA:2131
HP:0001337	Tremor	60481	ELOVL5	OMIM:615957
HP:0001337	Tremor	60481	ELOVL5	ORPHA:423296
HP:0001337	Tremor	100134444	KCNJ18	ORPHA:79102
HP:0001337	Tremor	100134444	KCNJ18	OMIM:613239
HP:0001337	Tremor	2556	GABRA3	ORPHA:79102
HP:0001337	Tremor	779	CACNA1S	ORPHA:79102
HP:0001337	Tremor	5582	PRKCG	ORPHA:98763
HP:0001337	Tremor	80025	PANK2	OMIM:234200
HP:0001337	Tremor	80025	PANK2	ORPHA:216873
HP:0001337	Tremor	166785	MMAA	OMIM:251100
HP:0001337	Tremor	3208	HPCA	OMIM:224500
HP:0001337	Tremor	3208	HPCA	ORPHA:99657
HP:0001337	Tremor	4644	MYO5A	ORPHA:33445
HP:0001337	Tremor	9533	POLR1C	OMIM:616494
HP:0001337	Tremor	8733	GPAA1	ORPHA:529665
HP:0001337	Tremor	8733	GPAA1	OMIM:617810
HP:0001337	Tremor	5205	ATP8B1	ORPHA:69665
HP:0001337	Tremor	8647	ABCB11	ORPHA:69665
HP:0001337	Tremor	5244	ABCB4	ORPHA:69665
HP:0001337	Tremor	9971	NR1H4	ORPHA:69665
HP:0001337	Tremor	400916	CHCHD10	OMIM:615048
HP:0001337	Tremor	400916	CHCHD10	ORPHA:276435
HP:0001337	Tremor	1356	CP	ORPHA:48818
HP:0001337	Tremor	146227	BEAN1	ORPHA:217012
HP:0001337	Tremor	23556	PIGN	OMIM:614080
HP:0001337	Tremor	23556	PIGN	ORPHA:280633
HP:0001337	Tremor	11152	WDR45	OMIM:300894
HP:0001337	Tremor	11152	WDR45	ORPHA:329284
HP:0001337	Tremor	5092	PCBD1	OMIM:264070
HP:0001337	Tremor	5092	PCBD1	ORPHA:1578
HP:0001337	Tremor	427	ASAH1	ORPHA:2590
HP:0001337	Tremor	427	ASAH1	OMIM:159950
HP:0001337	Tremor	4677	NARS1	OMIM:619092
HP:0001337	Tremor	8813	DPM1	OMIM:608799
HP:0001337	Tremor	9147	NEMF	OMIM:619099
HP:0001337	Tremor	7415	VCP	ORPHA:329478
HP:0001337	Tremor	10165	SLC25A13	ORPHA:247585
HP:0001337	Tremor	1384	CRAT	OMIM:617917
HP:0001337	Tremor	81846	SBF2	ORPHA:99956
HP:0001337	Tremor	85021	REPS1	OMIM:617916
HP:0001337	Tremor	6843	VAMP1	ORPHA:251282
HP:0001337	Tremor	6513	SLC2A1	ORPHA:1942
HP:0001337	Tremor	6513	SLC2A1	OMIM:612126
HP:0001337	Tremor	1173	AP2M1	ORPHA:1942
HP:0001337	Tremor	1173	AP2M1	OMIM:618587
HP:0001337	Tremor	340533	NEXMIF	ORPHA:1942
HP:0001337	Tremor	1106	CHD2	ORPHA:1942
HP:0001337	Tremor	6529	SLC6A1	ORPHA:1942
HP:0001337	Tremor	6529	SLC6A1	OMIM:616421
HP:0001337	Tremor	84188	FAR1	ORPHA:447753
HP:0001337	Tremor	10533	ATG7	OMIM:619422
HP:0001337	Tremor	81570	CLPB	OMIM:616271
HP:0001337	Tremor	4633	MYL2	OMIM:619424
HP:0001337	Tremor	2702	GJA5	OMIM:612474
HP:0001337	Tremor	2703	GJA8	OMIM:612474
HP:0001337	Tremor	10535	RNASEH2A	ORPHA:51
HP:0001337	Tremor	84153	RNASEH2C	ORPHA:51
HP:0001337	Tremor	25939	SAMHD1	ORPHA:51
HP:0001337	Tremor	79621	RNASEH2B	ORPHA:51
HP:0001337	Tremor	11277	TREX1	ORPHA:51
HP:0001337	Tremor	100147744	RNU7-1	ORPHA:51
HP:0001337	Tremor	134353	LSM11	ORPHA:51
HP:0001337	Tremor	64135	IFIH1	ORPHA:51
HP:0001337	Tremor	3736	KCNA1	ORPHA:1934
HP:0001337	Tremor	3736	KCNA1	OMIM:160120
HP:0001337	Tremor	9091	PIGQ	ORPHA:1934
HP:0001337	Tremor	2775	GNAO1	ORPHA:1934
HP:0001337	Tremor	81603	TRIM8	ORPHA:1934
HP:0001337	Tremor	2902	GRIN1	ORPHA:1934
HP:0001337	Tremor	79751	SLC25A22	ORPHA:1934
HP:0001337	Tremor	150094	SIK1	ORPHA:1934
HP:0001337	Tremor	8573	CASK	ORPHA:1934
HP:0001337	Tremor	23312	DMXL2	ORPHA:1934
HP:0001337	Tremor	2917	GRM7	ORPHA:1934
HP:0001337	Tremor	170302	ARX	ORPHA:1934
HP:0001337	Tremor	11284	PNKP	ORPHA:1934
HP:0001337	Tremor	51227	PIGP	ORPHA:1934
HP:0001337	Tremor	4761	NEUROD2	ORPHA:1934
HP:0001337	Tremor	4976	OPA1	OMIM:210000
HP:0001337	Tremor	2260	FGFR1	ORPHA:478
HP:0001337	Tremor	10371	SEMA3A	ORPHA:478
HP:0001337	Tremor	81848	SPRY4	ORPHA:478
HP:0001337	Tremor	23767	FLRT3	ORPHA:478
HP:0001337	Tremor	128674	PROKR2	ORPHA:478
HP:0001337	Tremor	79625	NDNF	ORPHA:478
HP:0001337	Tremor	2253	FGF8	ORPHA:478
HP:0001337	Tremor	389549	FEZF1	ORPHA:478
HP:0001337	Tremor	1630	DCC	ORPHA:478
HP:0001337	Tremor	3730	ANOS1	ORPHA:478
HP:0001337	Tremor	54756	IL17RD	ORPHA:478
HP:0001337	Tremor	6663	SOX10	ORPHA:478
HP:0001337	Tremor	285025	CCDC141	ORPHA:478
HP:0001337	Tremor	60675	PROK2	ORPHA:478
HP:0001337	Tremor	55636	CHD7	ORPHA:478
HP:0001337	Tremor	1848	DUSP6	ORPHA:478
HP:0001337	Tremor	6870	TACR3	ORPHA:478
HP:0001337	Tremor	55717	WDR11	ORPHA:478
HP:0001337	Tremor	9394	HS6ST1	ORPHA:478
HP:0001337	Tremor	8820	HESX1	ORPHA:478
HP:0001337	Tremor	8822	FGF17	ORPHA:478
HP:0001337	Tremor	1203	CLN5	ORPHA:228360
HP:0001337	Tremor	2639	GCDH	ORPHA:25
HP:0001337	Tremor	10059	DNM1L	ORPHA:330050
HP:0001337	Tremor	6134	RPL10	OMIM:300998
HP:0001337	Tremor	23013	SPEN	OMIM:619312
HP:0001337	Tremor	30000	TNPO2	OMIM:619556
HP:0001337	Tremor	23516	SLC39A14	OMIM:617013
HP:0001337	Tremor	23516	SLC39A14	ORPHA:521406
HP:0001337	Tremor	54517	PUS7	OMIM:618342
HP:0001337	Tremor	7167	TPI1	OMIM:615512
HP:0001337	Tremor	4311	MME	OMIM:617018
HP:0001337	Tremor	6571	SLC18A2	ORPHA:352649
HP:0001337	Tremor	6571	SLC18A2	OMIM:618049
HP:0001337	Tremor	10102	TSFM	OMIM:610505
HP:0001337	Tremor	10312	TCIRG1	ORPHA:667
HP:0001337	Tremor	1186	CLCN7	ORPHA:667
HP:0001337	Tremor	29887	SNX10	ORPHA:667
HP:0001337	Tremor	8600	TNFSF11	ORPHA:667
HP:0001337	Tremor	5575	PRKAR1B	OMIM:619680
HP:0001337	Tremor	724066	ATXN8	OMIM:608768
HP:0001337	Tremor	2581	GALC	ORPHA:206443
HP:0001337	Tremor	55187	VPS13D	OMIM:607317
HP:0001337	Tremor	8878	SQSTM1	OMIM:617145
HP:0001337	Tremor	5160	PDHA1	OMIM:312170
HP:0001337	Tremor	767	CA8	OMIM:613227
HP:0001337	Tremor	11093	ADAMTS13	OMIM:274150
HP:0001337	Tremor	5053	PAH	ORPHA:79254
HP:0001337	Tremor	6314	ATXN7	OMIM:164500
HP:0001337	Tremor	7337	UBE3A	ORPHA:98794
HP:0001337	Tremor	4948	OCA2	ORPHA:98794
HP:0001337	Tremor	1491	CTH	ORPHA:212
HP:0001337	Tremor	51132	RLIM	OMIM:300978
HP:0001337	Tremor	727676	SNORD118	OMIM:614561
HP:0001337	Tremor	727676	SNORD118	ORPHA:542310
HP:0001337	Tremor	182	JAG1	OMIM:619574
HP:0001337	Tremor	3746	KCNC1	OMIM:616187
HP:0001337	Tremor	8622	PDE8B	OMIM:609161
HP:0001337	Tremor	6898	TAT	ORPHA:28378
HP:0001337	Tremor	3172	HNF4A	ORPHA:263455
HP:0001337	Tremor	8091	HMGA2	ORPHA:94063
HP:0001337	Tremor	23592	LEMD3	ORPHA:94063
HP:0001337	Tremor	55630	SLC39A4	OMIM:201100
HP:0001337	Tremor	9757	KMT2B	OMIM:617284
HP:0001337	Tremor	9758	FRMPD4	OMIM:300983
HP:0001337	Tremor	64072	CDH23	ORPHA:91347
HP:0001337	Tremor	57545	CC2D2A	ORPHA:1454
HP:0001337	Tremor	6304	SATB1	OMIM:619229
HP:0001337	Tremor	57187	THOC2	ORPHA:457240
HP:0001337	Tremor	57187	THOC2	OMIM:300957
HP:0001337	Tremor	7138	TNNT1	OMIM:605355
HP:0001337	Tremor	7138	TNNT1	ORPHA:98902
HP:0001337	Tremor	54658	UGT1A1	ORPHA:79234
HP:0001337	Tremor	6697	SPR	OMIM:612716
HP:0001337	Tremor	6697	SPR	ORPHA:70594
HP:0001337	Tremor	84065	TMEM222	OMIM:619470
HP:0001337	Tremor	79784	MYH14	ORPHA:397744
HP:0001337	Tremor	79784	MYH14	OMIM:614369
HP:0001337	Tremor	65260	COA7	OMIM:618387
HP:0001337	Tremor	6812	STXBP1	OMIM:612164
HP:0001337	Tremor	6531	SLC6A3	OMIM:613135
HP:0001337	Tremor	4221	MEN1	ORPHA:97279
HP:0001337	Tremor	56910	STARD7	OMIM:607876
HP:0001337	Tremor	7204	TRIO	OMIM:617061
HP:0001337	Tremor	7204	TRIO	ORPHA:476126
HP:0001337	Tremor	128240	NAXE	OMIM:617186
HP:0001337	Tremor	6182	MRPL12	OMIM:618951
HP:0001337	Tremor	4780	NFE2L2	OMIM:617744
HP:0001337	Tremor	57570	TRMT5	OMIM:616539
HP:0001337	Tremor	54676	GTPBP2	OMIM:617988
HP:0001337	Tremor	2593	GAMT	OMIM:612736
HP:0001337	Tremor	84628	NTNG2	OMIM:618718
HP:0001337	Tremor	1650	DDOST	ORPHA:300536
HP:0001337	Tremor	1493	CTLA4	ORPHA:3162
HP:0001337	Tremor	940	CD28	ORPHA:3162
HP:0001337	Tremor	7133	TNFRSF1B	ORPHA:3162
HP:0001337	Tremor	5805	PTS	OMIM:261640
HP:0001337	Tremor	119559	SFXN4	OMIM:615578
HP:0001337	Tremor	8481	OFD1	ORPHA:2750
HP:0001337	Tremor	8481	OFD1	ORPHA:2754
HP:0001337	Tremor	55074	OXR1	OMIM:213000
HP:0001337	Tremor	10210	TOPORS	ORPHA:2754
HP:0001337	Tremor	9851	KIAA0753	ORPHA:2754
HP:0001337	Tremor	26123	TCTN3	ORPHA:2754
HP:0001337	Tremor	5147	PDE6D	ORPHA:2754
HP:0001337	Tremor	51259	TMEM216	ORPHA:2754
HP:0001337	Tremor	317662	FAM149B1	ORPHA:2754
HP:0001337	Tremor	374654	KIF7	ORPHA:2754
HP:0001337	Tremor	5860	QDPR	OMIM:261630
HP:0001337	Tremor	84706	GPT2	ORPHA:477673
HP:0001337	Tremor	84274	COQ5	OMIM:619028
HP:0001337	Tremor	57562	CEP126	ORPHA:65684
HP:0001337	Tremor	8910	SGCE	OMIM:159900
HP:0001337	Tremor	80169	CTC1	OMIM:612199
HP:0001337	Tremor	367	AR	OMIM:313200
HP:0001337	Tremor	9570	GOSR2	OMIM:614018
HP:0001337	Tremor	3145	HMBS	ORPHA:79276
HP:0001337	Tremor	25974	MMACHC	OMIM:277400
HP:0001337	Tremor	5052	PRDX1	OMIM:277400
HP:0001337	Tremor	9990	SLC12A6	OMIM:218000
HP:0001337	Tremor	773	CACNA1A	OMIM:183086
HP:0001337	Tremor	773	CACNA1A	ORPHA:98758
HP:0001337	Tremor	9524	TECR	OMIM:614020
HP:0001337	Tremor	124997	WDR81	OMIM:610185
HP:0001337	Tremor	1161	ERCC8	ORPHA:90324
HP:0001337	Tremor	2074	ERCC6	ORPHA:90324
HP:0001337	Tremor	775	CACNA1C	OMIM:620029
HP:0001337	Tremor	23600	AMACR	OMIM:614307
HP:0001337	Tremor	5457	POU4F1	ORPHA:314647
HP:0001337	Tremor	5457	POU4F1	OMIM:619352
HP:0001337	Tremor	144165	PRICKLE1	ORPHA:308
HP:0001337	Tremor	1476	CSTB	ORPHA:308
HP:0001337	Tremor	85300	ATCAY	ORPHA:94122
HP:0001337	Tremor	85300	ATCAY	OMIM:601238
HP:0001337	Tremor	6712	SPTBN2	ORPHA:352403
HP:0001337	Tremor	6712	SPTBN2	OMIM:600224
HP:0001337	Tremor	6712	SPTBN2	OMIM:615386
HP:0001337	Tremor	57165	GJC2	OMIM:608804
HP:0001337	Tremor	57165	GJC2	OMIM:613206
HP:0001337	Tremor	221496	LEMD2	OMIM:619322
HP:0001337	Tremor	440193	CCDC88C	OMIM:616053
HP:0001337	Tremor	440193	CCDC88C	ORPHA:423275
HP:0001337	Tremor	23114	NFASC	OMIM:618356
HP:0001337	Tremor	51506	UFC1	OMIM:618076
HP:0001337	Tremor	5917	RARS1	ORPHA:438114
HP:0001337	Tremor	5917	RARS1	OMIM:616140
HP:0001337	Tremor	472	ATM	OMIM:208900
HP:0001337	Tremor	10501	SEMA6B	OMIM:618876
HP:0001337	Tremor	343641	TGM6	OMIM:613908
HP:0001337	Tremor	343641	TGM6	ORPHA:276193
HP:0001337	Tremor	410	ARSA	ORPHA:309271
HP:0001337	Tremor	410	ARSA	ORPHA:309263
HP:0001337	Tremor	2058	EPRS1	OMIM:617951
HP:0001337	Tremor	7436	VLDLR	OMIM:224050
HP:0001337	Tremor	267010	RNU12	OMIM:620208
HP:0001337	Tremor	267010	RNU12	ORPHA:512260
HP:0001337	Tremor	91137	SLC25A46	OMIM:616505
HP:0001337	Tremor	7080	NKX2-1	ORPHA:209905
HP:0001337	Tremor	7276	TTR	OMIM:105210
HP:0001337	Tremor	22	ABCB7	OMIM:301310
HP:0001337	Tremor	26278	SACS	ORPHA:98
HP:0001337	Tremor	9445	ITM2B	OMIM:117300
HP:0001337	Tremor	54968	TMEM70	OMIM:614052
HP:0001337	Tremor	54664	TMEM106B	OMIM:617964
HP:0001337	Tremor	26090	ABHD12	OMIM:612674
HP:0001337	Tremor	27010	TPK1	OMIM:614458
HP:0001337	Tremor	2395	FXN	ORPHA:95
HP:0001337	Tremor	5373	PMM2	OMIM:212065
HP:0001337	Tremor	50801	KCNK4	OMIM:618381
HP:0001337	Tremor	56006	SMG9	OMIM:619995
HP:0001337	Tremor	9150	CTDP1	ORPHA:48431
HP:0001337	Tremor	6711	SPTBN1	OMIM:619475
HP:0001337	Tremor	55280	CWF19L1	OMIM:616127
HP:0001337	Tremor	55280	CWF19L1	ORPHA:453521
HP:0001337	Tremor	4361	MRE11	ORPHA:251347
HP:0001337	Tremor	4983	OPHN1	ORPHA:137831
HP:0001337	Tremor	54499	TMCO1	OMIM:213980
HP:0001337	Tremor	5293	PIK3CD	ORPHA:221139
HP:0001337	Tremor	90417	KNSTRN	ORPHA:221139
HP:0001337	Tremor	10908	PNPLA6	OMIM:215470
HP:0001337	Tremor	25814	ATXN10	ORPHA:98761
HP:0001337	Tremor	5728	PTEN	OMIM:158350
HP:0001337	Tremor	54870	QRICH1	OMIM:617982
HP:0001337	Tremor	5192	PEX10	OMIM:614871
HP:0001337	Tremor	81562	LMAN2L	OMIM:617863
HP:0001337	Tremor	3295	HSD17B4	OMIM:233400
HP:0001337	Tremor	6785	ELOVL4	OMIM:133190
HP:0001337	Tremor	10667	FARS2	ORPHA:466722
HP:0001337	Tremor	55129	ANO10	ORPHA:284289
HP:0001337	Tremor	55129	ANO10	OMIM:613728
HP:0001337	Tremor	5981	RFC1	ORPHA:504476
HP:0001337	Tremor	4841	NONO	ORPHA:466791
HP:0001337	Tremor	2937	GSS	OMIM:266130
HP:0001337	Tremor	9725	TMEM63A	OMIM:618688
HP:0001337	Tremor	404672	GTF2H5	ORPHA:33364
HP:0001337	Tremor	833	CARS1	ORPHA:33364
HP:0001337	Tremor	2068	ERCC2	ORPHA:33364
HP:0001337	Tremor	7737	RNF113A	ORPHA:33364
HP:0001337	Tremor	136647	MPLKIP	ORPHA:33364
HP:0001337	Tremor	6897	TARS1	ORPHA:33364
HP:0001337	Tremor	2071	ERCC3	ORPHA:33364
HP:0001337	Tremor	2961	GTF2E2	ORPHA:33364
HP:0001337	Tremor	200403	VWA3B	OMIM:616948
HP:0001337	Tremor	57410	SCYL1	ORPHA:466794
HP:0001337	Tremor	54936	ADPRS	OMIM:618170
HP:0001337	Tremor	25793	FBXO7	ORPHA:171695
HP:0001337	Tremor	5290	PIK3CA	OMIM:615108
HP:0001337	Tremor	207	AKT1	OMIM:615109
HP:0001337	Tremor	6342	SCP2	OMIM:613724
HP:0001337	Tremor	5297	PI4KA	OMIM:619708
HP:0001337	Tremor	353116	RILPL1	OMIM:619790
HP:0001337	Tremor	123606	NIPA1	ORPHA:100988
HP:0001337	Tremor	3615	IMPDH2	ORPHA:98808
HP:0001337	Tremor	23533	PIK3R5	ORPHA:64753
HP:0001337	Tremor	23064	SETX	ORPHA:64753
HP:0001337	Tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0001337	Tremor	9256	TSPOAP1	ORPHA:101150
HP:0001337	Tremor	7054	TH	ORPHA:101150
HP:0001337	Tremor	84277	DNAJC30	ORPHA:104
HP:0001337	Tremor	4535	MT-ND1	ORPHA:104
HP:0001337	Tremor	4535	MT-ND1	OMIM:535000
HP:0001337	Tremor	4536	MT-ND2	ORPHA:104
HP:0001337	Tremor	4536	MT-ND2	OMIM:535000
HP:0001337	Tremor	4538	MT-ND4	ORPHA:104
HP:0001337	Tremor	4538	MT-ND4	OMIM:535000
HP:0001337	Tremor	4720	NDUFS2	ORPHA:104
HP:0001337	Tremor	4512	MT-CO1	ORPHA:104
HP:0001337	Tremor	4514	MT-CO3	ORPHA:104
HP:0001337	Tremor	4514	MT-CO3	OMIM:535000
HP:0001337	Tremor	4519	MT-CYB	ORPHA:104
HP:0001337	Tremor	4519	MT-CYB	OMIM:535000
HP:0001337	Tremor	4508	MT-ATP6	ORPHA:104
HP:0001337	Tremor	4508	MT-ATP6	OMIM:535000
HP:0001337	Tremor	4540	MT-ND5	ORPHA:104
HP:0001337	Tremor	4540	MT-ND5	OMIM:535000
HP:0001337	Tremor	4541	MT-ND6	ORPHA:104
HP:0001337	Tremor	4541	MT-ND6	OMIM:535000
HP:0001337	Tremor	4539	MT-ND4L	ORPHA:104
HP:0001337	Tremor	4539	MT-ND4L	OMIM:535000
HP:0001337	Tremor	6310	ATXN1	ORPHA:98755
HP:0001337	Tremor	8575	PRKRA	ORPHA:210571
HP:0001337	Tremor	8575	PRKRA	OMIM:612067
HP:0001337	Tremor	2898	GRIK2	OMIM:611092
HP:0001337	Tremor	7345	UCHL1	OMIM:615491
HP:0001337	Tremor	80208	SPG11	OMIM:616668
HP:0001337	Tremor	3752	KCND3	OMIM:607346
HP:0001337	Tremor	26580	BSCL2	OMIM:270685
HP:0001337	Tremor	26580	BSCL2	ORPHA:100998
HP:0001337	Tremor	9217	VAPB	OMIM:608627
HP:0001337	Tremor	10397	NDRG1	ORPHA:99950
HP:0001337	Tremor	9420	CYP7B1	OMIM:270800
HP:0001337	Tremor	51308	REEP2	ORPHA:401849
HP:0001337	Tremor	10935	PRDX3	OMIM:619862
HP:0001337	Tremor	339453	TMEM240	OMIM:607454
HP:0001337	Tremor	5277	PIGA	OMIM:301072
HP:0001337	Tremor	55703	POLR3B	OMIM:607694
HP:0001337	Tremor	291	SLC25A4	ORPHA:254892
HP:0001337	Tremor	5428	POLG	ORPHA:254892
HP:0001337	Tremor	5428	POLG	OMIM:157640
HP:0001337	Tremor	56652	TWNK	ORPHA:254892
HP:0001337	Tremor	11232	POLG2	ORPHA:254892
HP:0001337	Tremor	50484	RRM2B	ORPHA:254892
HP:0001337	Tremor	2643	GCH1	OMIM:128230
HP:0001337	Tremor	26058	GIGYF2	OMIM:607688
HP:0001337	Tremor	26058	GIGYF2	ORPHA:411602
HP:0001337	Tremor	11253	MAN1B1	ORPHA:397941
HP:0001337	Tremor	10159	ATP6AP2	OMIM:300911
HP:0001337	Tremor	10159	ATP6AP2	ORPHA:363654
HP:0001337	Tremor	7384	UQCRC1	OMIM:619279
HP:0001337	Tremor	65018	PINK1	OMIM:605909
HP:0001337	Tremor	80207	OPA3	ORPHA:67036
HP:0001337	Tremor	1593	CYP27A1	ORPHA:909
HP:0001337	Tremor	54902	TTC19	OMIM:615157
HP:0001337	Tremor	54832	VPS13C	OMIM:616840
HP:0001337	Tremor	4929	NR4A2	OMIM:619911
HP:0001337	Tremor	4929	NR4A2	OMIM:168600
HP:0001337	Tremor	1786	DNMT1	ORPHA:314404
HP:0001337	Tremor	27235	COQ2	ORPHA:227510
HP:0001337	Tremor	27235	COQ2	ORPHA:98933
HP:0001337	Tremor	6872	TAF1	ORPHA:53351
HP:0001337	Tremor	111	ADCY5	OMIM:606703
HP:0001337	Tremor	111	ADCY5	ORPHA:324588
HP:0001337	Tremor	9829	DNAJC6	ORPHA:391411
HP:0001337	Tremor	5420	PODXL	ORPHA:391411
HP:0001337	Tremor	8867	SYNJ1	ORPHA:391411
HP:0001337	Tremor	23400	ATP13A2	OMIM:617225
HP:0001337	Tremor	3781	KCNN2	OMIM:619725
HP:0001337	Tremor	5660	PSAP	OMIM:619491
HP:0001337	Tremor	4204	MECP2	OMIM:300055
HP:0001337	Tremor	4204	MECP2	ORPHA:3077
HP:0001337	Tremor	8913	CACNA1G	ORPHA:458803
HP:0001337	Tremor	55737	VPS35	OMIM:614203
HP:0001337	Tremor	55737	VPS35	ORPHA:411602
HP:0001337	Tremor	120892	LRRK2	OMIM:607060
HP:0001337	Tremor	120892	LRRK2	ORPHA:411602
HP:0001337	Tremor	2629	GBA1	ORPHA:411602
HP:0001337	Tremor	2629	GBA1	OMIM:168600
HP:0001337	Tremor	23317	DNAJC13	ORPHA:411602
HP:0001337	Tremor	1981	EIF4G1	ORPHA:411602
HP:0001337	Tremor	1981	EIF4G1	OMIM:614251
HP:0001337	Tremor	6622	SNCA	ORPHA:411602
HP:0001337	Tremor	6622	SNCA	OMIM:168601
HP:0001337	Tremor	116442	RAB39B	OMIM:311510
HP:0001337	Tremor	5832	ALDH18A1	OMIM:601162
HP:0001337	Tremor	10367	MICU1	ORPHA:401768
HP:0001337	Tremor	11315	PARK7	OMIM:606324
HP:0001337	Tremor	2512	FTL	ORPHA:157846
HP:0001337	Tremor	2332	FMR1	OMIM:300623
HP:0001337	Tremor	478	ATP1A3	ORPHA:71517
HP:0001337	Tremor	51142	CHCHD2	OMIM:616710
HP:0001337	Tremor	23230	VPS13A	ORPHA:2388
HP:0001337	Tremor	8398	PLA2G6	OMIM:612953
HP:0001337	Tremor	2747	GLUD2	OMIM:168600
HP:0001337	Tremor	126	ADH1C	OMIM:168600
HP:0001337	Tremor	4137	MAPT	OMIM:168600
HP:0001337	Tremor	6908	TBP	OMIM:168600
HP:0001337	Tremor	4576	MT-TT	OMIM:168600
HP:0001337	Tremor	9627	SNCAIP	OMIM:168600
HP:0001337	Tremor	6311	ATXN2	OMIM:168600
HP:0001337	Tremor	6315	ATXN8OS	OMIM:168600
HP:0001337	Tremor	2592	GALT	ORPHA:79239
HP:0001337	Tremor	3708	ITPR1	OMIM:606658
HP:0001337	Tremor	3708	ITPR1	ORPHA:98769
HP:0001337	Tremor	57338	JPH3	OMIM:606438
HP:0001337	Tremor	55768	NGLY1	OMIM:615273
HP:0001337	Tremor	55768	NGLY1	ORPHA:404454
HP:0001337	Tremor	1181	CLCN2	OMIM:615651
HP:0001337	Tremor	2521	FUS	OMIM:614782
HP:0001337	Tremor	55532	SLC30A10	ORPHA:309854
HP:0001337	Tremor	10352	WARS2	OMIM:619738
HP:0001337	Tremor	2678	GGT1	OMIM:231950
HP:0001337	Tremor	131669	UROC1	OMIM:276880
HP:0001337	Tremor	131669	UROC1	ORPHA:210128
HP:0001337	Tremor	131118	DNAJC19	ORPHA:66634
HP:0001337	Tremor	6335	SCN9A	ORPHA:33069
HP:0001337	Tremor	6326	SCN2A	ORPHA:33069
HP:0001337	Tremor	2554	GABRA1	ORPHA:33069
HP:0001337	Tremor	6323	SCN1A	ORPHA:33069
HP:0001337	Tremor	6324	SCN1B	ORPHA:33069
HP:0001337	Tremor	57526	PCDH19	ORPHA:33069
HP:0001337	Tremor	2566	GABRG2	ORPHA:33069
HP:0001337	Tremor	80704	SLC19A3	OMIM:607483
HP:0001337	Tremor	4359	MPZ	OMIM:180800
HP:0001337	Tremor	5376	PMP22	OMIM:180800
HP:0001337	Tremor	5521	PPP2R2B	OMIM:604326
HP:0001337	Tremor	5521	PPP2R2B	ORPHA:98762
HP:0001337	Tremor	1822	ATN1	ORPHA:101
HP:0001337	Tremor	492	ATP2B3	OMIM:302500
HP:0001337	Tremor	492	ATP2B3	ORPHA:314978
HP:0001337	Tremor	3766	KCNJ10	ORPHA:199343
HP:0001337	Tremor	6548	SLC9A1	OMIM:616291
HP:0001337	Tremor	7084	TK2	ORPHA:254886
HP:0001337	Tremor	1814	DRD3	OMIM:190300
HP:0001337	Tremor	1293	COL6A3	OMIM:616411
HP:0001337	Tremor	1293	COL6A3	ORPHA:464440
HP:0001337	Tremor	7532	YWHAG	OMIM:617665
HP:0001337	Tremor	950	SCARB2	OMIM:254900
HP:0001337	Tremor	8996	NOL3	OMIM:614937
HP:0001337	Tremor	4884	NPTX1	OMIM:620158
HP:0001337	Tremor	4001	LMNB1	ORPHA:99027
HP:0001337	Tremor	11128	POLR3A	ORPHA:3455
HP:0001337	Tremor	25792	CIZ1	ORPHA:420492
HP:0001337	Tremor	5190	PEX6	ORPHA:95433
HP:0001337	Tremor	79628	SH3TC2	ORPHA:99949
HP:0001337	Tremor	11160	ERLIN2	ORPHA:280384
HP:0001337	Tremor	11160	ERLIN2	ORPHA:209951
HP:0001337	Tremor	388662	SLC6A17	ORPHA:457212
HP:0001337	Tremor	1861	TOR1A	OMIM:618947
HP:0001337	Tremor	6606	SMN1	OMIM:271150
HP:0001337	Tremor	6606	SMN1	OMIM:253400
HP:0001337	Tremor	6606	SMN1	OMIM:253550
HP:0001337	Tremor	5165	PDK3	OMIM:300905
HP:0001337	Tremor	5165	PDK3	ORPHA:352675
HP:0001337	Tremor	7253	TSHR	ORPHA:99819
HP:0001337	Tremor	7253	TSHR	ORPHA:424
HP:0001337	Tremor	4803	NGF	OMIM:608654
HP:0001337	Tremor	6607	SMN2	OMIM:253400
HP:0001337	Tremor	2259	FGF14	ORPHA:98764
HP:0001337	Tremor	151	ADRA2B	ORPHA:86814
HP:0001337	Tremor	55689	YEATS2	ORPHA:86814
HP:0001337	Tremor	1501	CTNND2	ORPHA:86814
HP:0001337	Tremor	10299	MARCHF6	ORPHA:86814
HP:0001337	Tremor	6900	CNTN2	ORPHA:86814
HP:0001337	Tremor	401474	SAMD12	ORPHA:86814
HP:0001337	Tremor	5375	PMP2	OMIM:618279
HP:0001337	Tremor	122553	TRAPPC6B	OMIM:617862
HP:0001337	Tremor	5155	PDGFB	OMIM:615483
HP:0001337	Tremor	23261	CAMTA1	OMIM:614756
HP:0001337	Tremor	57505	AARS2	OMIM:615889
HP:0001337	Tremor	10342	TFG	OMIM:604484
HP:0001337	Tremor	7443	VRK1	OMIM:607596
HP:0001337	Tremor	540	ATP7B	OMIM:277900
HP:0001337	Tremor	2645	GCK	ORPHA:79299
HP:0001337	Tremor	63982	ANO3	ORPHA:420485
HP:0001337	Tremor	25782	RAB3GAP2	ORPHA:401830
HP:0001337	Tremor	10558	SPTLC1	OMIM:162400
HP:0001337	Tremor	4141	MARS1	ORPHA:401835
HP:0001337	Tremor	10273	STUB1	ORPHA:412057
HP:0001337	Tremor	57704	GBA2	OMIM:614409
HP:0001337	Tremor	51663	ZFR	ORPHA:401840
HP:0001337	Tremor	55023	PHIP	ORPHA:589905
HP:0001337	Tremor	23503	ZFYVE26	ORPHA:100996
HP:0001337	Tremor	2705	GJB1	OMIM:302800
HP:0001337	Tremor	10058	ABCB6	OMIM:609153
HP:0001337	Tremor	57465	TBC1D24	OMIM:608105
HP:0001337	Tremor	4747	NEFL	ORPHA:101085
HP:0001337	Tremor	9927	MFN2	ORPHA:99947
HP:0001337	Tremor	10528	NOP56	ORPHA:276198
HP:0001337	Tremor	10280	SIGMAR1	ORPHA:300605
HP:0001337	Tremor	57679	ALS2	ORPHA:300605
HP:0001337	Tremor	57679	ALS2	OMIM:205100
HP:0001337	Tremor	84504	NKX6-2	OMIM:617560
HP:0001337	Tremor	84504	NKX6-2	ORPHA:527497
HP:0001337	Tremor	26275	HIBCH	ORPHA:88639
HP:0001337	Tremor	26275	HIBCH	OMIM:250620
HP:0001337	Tremor	3329	HSPD1	OMIM:612233
HP:0001337	Tremor	284217	LAMA1	ORPHA:370022
HP:0001337	Tremor	10382	TUBB4A	ORPHA:98805
HP:0001337	Tremor	79587	CARS2	ORPHA:477774
HP:0001337	Tremor	6792	CDKL5	ORPHA:3095
HP:0001337	Tremor	22854	NTNG1	ORPHA:3095
HP:0001337	Tremor	9568	GABBR2	ORPHA:3095
HP:0001337	Tremor	8243	SMC1A	ORPHA:3095
HP:0001337	Tremor	1200	TPP1	OMIM:609270
HP:0001337	Tremor	54974	THG1L	OMIM:618800
HP:0001337	Tremor	84668	HYCC1	OMIM:610532
HP:0001337	Tremor	28982	FLVCR1	ORPHA:88628
HP:0001337	Tremor	91452	ACBD5	OMIM:618863
HP:0001337	Tremor	221927	BRAT1	OMIM:618056
HP:0001337	Tremor	4128	MAOA	OMIM:300615
HP:0001337	Tremor	10939	AFG3L2	ORPHA:101109
HP:0001337	Tremor	63929	XPNPEP3	OMIM:613159
HP:0001337	Tremor	84919	PPP1R15B	OMIM:616817
HP:0001337	Tremor	3475	IFRD1	ORPHA:98771
HP:0001337	Tremor	4099	MAG	ORPHA:459056
HP:0001337	Tremor	10749	KIF1C	ORPHA:397946
HP:0001337	Tremor	5354	PLP1	ORPHA:280210
HP:0001337	Tremor	5354	PLP1	ORPHA:280219
HP:0001337	Tremor	10531	PITRM1	OMIM:619405
HP:0001337	Tremor	3748	KCNC3	ORPHA:98768
HP:0001337	Tremor	22880	MORC2	ORPHA:466768
HP:0001337	Tremor	26011	TENM4	OMIM:616736
HP:0001337	Tremor	4604	MYBPC1	OMIM:618524
HP:0001337	Tremor	9409	PEX16	OMIM:614877
HP:0001337	Tremor	3704	ITPA	OMIM:616647
HP:0001337	Tremor	80055	PGAP1	ORPHA:401820
HP:0001337	Tremor	1644	DDC	OMIM:608643
HP:0001337	Tremor	2892	GRIA3	OMIM:300699
HP:0001337	Tremor	6638	SNRPN	OMIM:105830
HP:0001337	Tremor	9578	CDC42BPB	OMIM:619841
HP:0001298	Encephalopathy	5274	SERPINI1	OMIM:604218
HP:0001298	Encephalopathy	10128	LRPPRC	OMIM:220111
HP:0001298	Encephalopathy	84706	GPT2	OMIM:616281
HP:0001298	Encephalopathy	3155	HMGCL	ORPHA:20
HP:0001298	Encephalopathy	1738	DLD	OMIM:246900
HP:0001298	Encephalopathy	4558	MT-TF	ORPHA:550
HP:0001298	Encephalopathy	4558	MT-TF	OMIM:540000
HP:0001298	Encephalopathy	4572	MT-TQ	ORPHA:550
HP:0001298	Encephalopathy	4572	MT-TQ	OMIM:540000
HP:0001298	Encephalopathy	4512	MT-CO1	ORPHA:550
HP:0001298	Encephalopathy	4512	MT-CO1	OMIM:540000
HP:0001298	Encephalopathy	4513	MT-CO2	ORPHA:550
HP:0001298	Encephalopathy	4513	MT-CO2	OMIM:540000
HP:0001298	Encephalopathy	4514	MT-CO3	ORPHA:550
HP:0001298	Encephalopathy	4514	MT-CO3	OMIM:540000
HP:0001298	Encephalopathy	4578	MT-TW	ORPHA:550
HP:0001298	Encephalopathy	4578	MT-TW	OMIM:540000
HP:0001298	Encephalopathy	4540	MT-ND5	ORPHA:550
HP:0001298	Encephalopathy	4540	MT-ND5	OMIM:540000
HP:0001298	Encephalopathy	4541	MT-ND6	ORPHA:550
HP:0001298	Encephalopathy	4541	MT-ND6	OMIM:540000
HP:0001298	Encephalopathy	4535	MT-ND1	ORPHA:550
HP:0001298	Encephalopathy	4535	MT-ND1	ORPHA:2609
HP:0001298	Encephalopathy	4535	MT-ND1	OMIM:540000
HP:0001298	Encephalopathy	4538	MT-ND4	ORPHA:550
HP:0001298	Encephalopathy	4567	MT-TL1	ORPHA:550
HP:0001298	Encephalopathy	4567	MT-TL1	OMIM:540000
HP:0001298	Encephalopathy	4574	MT-TS1	ORPHA:550
HP:0001298	Encephalopathy	4574	MT-TS1	OMIM:540000
HP:0001298	Encephalopathy	4575	MT-TS2	ORPHA:550
HP:0001298	Encephalopathy	4575	MT-TS2	OMIM:540000
HP:0001298	Encephalopathy	4564	MT-TH	ORPHA:550
HP:0001298	Encephalopathy	4524	MTHFR	ORPHA:395
HP:0001298	Encephalopathy	54539	NDUFB11	ORPHA:2609
HP:0001298	Encephalopathy	25915	NDUFAF3	ORPHA:2609
HP:0001298	Encephalopathy	51103	NDUFAF1	ORPHA:2609
HP:0001298	Encephalopathy	51103	NDUFAF1	OMIM:618234
HP:0001298	Encephalopathy	91942	NDUFAF2	ORPHA:2609
HP:0001298	Encephalopathy	91942	NDUFAF2	OMIM:618233
HP:0001298	Encephalopathy	51300	TIMMDC1	ORPHA:2609
HP:0001298	Encephalopathy	4716	NDUFB10	ORPHA:2609
HP:0001298	Encephalopathy	4723	NDUFV1	ORPHA:2609
HP:0001298	Encephalopathy	55572	FOXRED1	ORPHA:2609
HP:0001298	Encephalopathy	284184	NDUFAF8	ORPHA:2609
HP:0001298	Encephalopathy	55863	TMEM126B	ORPHA:2609
HP:0001298	Encephalopathy	4537	MT-ND3	ORPHA:2609
HP:0001298	Encephalopathy	4729	NDUFV2	ORPHA:2609
HP:0001298	Encephalopathy	4729	NDUFV2	OMIM:618229
HP:0001298	Encephalopathy	4694	NDUFA1	ORPHA:2609
HP:0001298	Encephalopathy	4720	NDUFS2	ORPHA:2609
HP:0001298	Encephalopathy	4724	NDUFS4	ORPHA:2609
HP:0001298	Encephalopathy	4726	NDUFS6	ORPHA:2609
HP:0001298	Encephalopathy	4726	NDUFS6	OMIM:618232
HP:0001298	Encephalopathy	4728	NDUFS8	ORPHA:2609
HP:0001298	Encephalopathy	4722	NDUFS3	ORPHA:2609
HP:0001298	Encephalopathy	4722	NDUFS3	OMIM:618230
HP:0001298	Encephalopathy	79133	NDUFAF5	ORPHA:2609
HP:0001298	Encephalopathy	126328	NDUFA11	ORPHA:2609
HP:0001298	Encephalopathy	126328	NDUFA11	OMIM:618236
HP:0001298	Encephalopathy	4709	NDUFB3	ORPHA:2609
HP:0001298	Encephalopathy	4709	NDUFB3	OMIM:618246
HP:0001298	Encephalopathy	80224	NUBPL	ORPHA:2609
HP:0001298	Encephalopathy	29078	NDUFAF4	ORPHA:2609
HP:0001298	Encephalopathy	29078	NDUFAF4	OMIM:618237
HP:0001298	Encephalopathy	374291	NDUFS7	ORPHA:2609
HP:0001298	Encephalopathy	374291	NDUFS7	OMIM:618224
HP:0001298	Encephalopathy	4700	NDUFA6	ORPHA:2609
HP:0001298	Encephalopathy	4700	NDUFA6	OMIM:618253
HP:0001298	Encephalopathy	4536	MT-ND2	ORPHA:2609
HP:0001298	Encephalopathy	4719	NDUFS1	ORPHA:2609
HP:0001298	Encephalopathy	4715	NDUFB9	ORPHA:2609
HP:0001298	Encephalopathy	26235	FBXL4	OMIM:615471
HP:0001298	Encephalopathy	79621	RNASEH2B	OMIM:610181
HP:0001298	Encephalopathy	498	ATP5F1A	OMIM:616045
HP:0001298	Encephalopathy	498	ATP5F1A	OMIM:615228
HP:0001298	Encephalopathy	763	CA5A	OMIM:615751
HP:0001298	Encephalopathy	10059	DNM1L	OMIM:614388
HP:0001298	Encephalopathy	1355	COX15	OMIM:615119
HP:0001298	Encephalopathy	95	ACY1	ORPHA:137754
HP:0001298	Encephalopathy	10102	TSFM	OMIM:610505
HP:0001298	Encephalopathy	81570	CLPB	ORPHA:445038
HP:0001298	Encephalopathy	2731	GLDC	OMIM:605899
HP:0001298	Encephalopathy	275	AMT	OMIM:605899
HP:0001298	Encephalopathy	26275	HIBCH	ORPHA:88639
HP:0001298	Encephalopathy	4695	NDUFA2	OMIM:618235
HP:0001298	Encephalopathy	6536	SLC6A9	OMIM:617301
HP:0001298	Encephalopathy	387787	LIPT2	OMIM:617668
HP:0001298	Encephalopathy	23600	AMACR	ORPHA:79095
HP:0001298	Encephalopathy	51112	TRAPPC12	OMIM:617669
HP:0001298	Encephalopathy	26580	BSCL2	OMIM:615924
HP:0001298	Encephalopathy	10978	CLP1	OMIM:615803
HP:0001298	Encephalopathy	23474	ETHE1	ORPHA:51188
HP:0001298	Encephalopathy	23474	ETHE1	OMIM:602473
HP:0001298	Encephalopathy	2592	GALT	ORPHA:79239
HP:0001298	Encephalopathy	10559	SLC35A1	OMIM:603585
HP:0001298	Encephalopathy	4519	MT-CYB	OMIM:540000
HP:0001298	Encephalopathy	4511	MT-TC	OMIM:540000
HP:0001298	Encephalopathy	4566	MT-TK	OMIM:540000
HP:0001298	Encephalopathy	4566	MT-TK	ORPHA:1349
HP:0001298	Encephalopathy	4577	MT-TV	OMIM:540000
HP:0001298	Encephalopathy	27235	COQ2	OMIM:607426
HP:0001298	Encephalopathy	2859	GPR35	ORPHA:171
HP:0001298	Encephalopathy	10507	SEMA4D	ORPHA:171
HP:0001298	Encephalopathy	4485	MST1	ORPHA:171
HP:0001298	Encephalopathy	6925	TCF4	ORPHA:171
HP:0001298	Encephalopathy	513	ATP5F1D	OMIM:618120
HP:0001298	Encephalopathy	150094	SIK1	OMIM:616341
HP:0001298	Encephalopathy	6326	SCN2A	OMIM:618924
HP:0001298	Encephalopathy	93627	TBCK	OMIM:616900
HP:0001298	Encephalopathy	8772	FADD	OMIM:613759
HP:0001298	Encephalopathy	8772	FADD	ORPHA:306550
HP:0001298	Encephalopathy	1716	DGUOK	OMIM:251880
HP:0001298	Encephalopathy	8802	SUCLG1	OMIM:245400
HP:0001298	Encephalopathy	8802	SUCLG1	ORPHA:17
HP:0001298	Encephalopathy	2898	GRIK2	OMIM:619580
HP:0001298	Encephalopathy	5621	PRNP	OMIM:606688
HP:0001298	Encephalopathy	54968	TMEM70	OMIM:614052
HP:0001298	Encephalopathy	55163	PNPO	OMIM:610090
HP:0001298	Encephalopathy	1759	DNM1	ORPHA:2382
HP:0001298	Encephalopathy	1759	DNM1	ORPHA:442835
HP:0001298	Encephalopathy	2562	GABRB3	ORPHA:2382
HP:0001298	Encephalopathy	5602	MAPK10	ORPHA:2382
HP:0001298	Encephalopathy	773	CACNA1A	ORPHA:2382
HP:0001298	Encephalopathy	773	CACNA1A	ORPHA:442835
HP:0001298	Encephalopathy	6323	SCN1A	ORPHA:2382
HP:0001298	Encephalopathy	23316	CUX2	ORPHA:2382
HP:0001298	Encephalopathy	1106	CHD2	ORPHA:2382
HP:0001298	Encephalopathy	478	ATP1A3	ORPHA:1171
HP:0001298	Encephalopathy	478	ATP1A3	ORPHA:442835
HP:0001298	Encephalopathy	84342	COG8	OMIM:611182
HP:0001298	Encephalopathy	25930	PTPN23	OMIM:618890
HP:0001298	Encephalopathy	132158	GLYCTK	OMIM:220120
HP:0001298	Encephalopathy	84896	ATAD1	OMIM:618011
HP:0001298	Encephalopathy	1376	CPT2	OMIM:614212
HP:0001298	Encephalopathy	55210	ATAD3A	OMIM:618810
HP:0001298	Encephalopathy	6773	STAT2	OMIM:616636
HP:0001298	Encephalopathy	2752	GLUL	OMIM:610015
HP:0001298	Encephalopathy	27010	TPK1	OMIM:614458
HP:0001298	Encephalopathy	3737	KCNA2	ORPHA:442835
HP:0001298	Encephalopathy	8120	AP3B2	ORPHA:442835
HP:0001298	Encephalopathy	523	ATP6V1A	ORPHA:442835
HP:0001298	Encephalopathy	10991	SLC38A3	ORPHA:442835
HP:0001298	Encephalopathy	51343	FZR1	ORPHA:442835
HP:0001298	Encephalopathy	22906	TRAK1	ORPHA:442835
HP:0001298	Encephalopathy	22906	TRAK1	OMIM:618201
HP:0001298	Encephalopathy	2566	GABRG2	ORPHA:442835
HP:0001298	Encephalopathy	1917	EEF1A2	ORPHA:442835
HP:0001298	Encephalopathy	2561	GABRB2	ORPHA:442835
HP:0001298	Encephalopathy	8831	SYNGAP1	ORPHA:442835
HP:0001298	Encephalopathy	7532	YWHAG	ORPHA:442835
HP:0001298	Encephalopathy	79876	UBA5	ORPHA:442835
HP:0001298	Encephalopathy	6328	SCN3A	ORPHA:442835
HP:0001298	Encephalopathy	2558	GABRA5	ORPHA:442835
HP:0001298	Encephalopathy	781	CACNA2D1	ORPHA:442835
HP:0001298	Encephalopathy	2906	GRIN2D	ORPHA:442835
HP:0001298	Encephalopathy	116150	NUS1	ORPHA:442835
HP:0001298	Encephalopathy	10659	CELF2	ORPHA:442835
HP:0001298	Encephalopathy	774	CACNA1B	ORPHA:442835
HP:0001298	Encephalopathy	1213	CLTC	ORPHA:442835
HP:0001298	Encephalopathy	51741	WWOX	ORPHA:442835
HP:0001298	Encephalopathy	23334	SZT2	ORPHA:442835
HP:0001298	Encephalopathy	51412	ACTL6B	ORPHA:442835
HP:0001298	Encephalopathy	348980	HCN1	ORPHA:442835
HP:0001298	Encephalopathy	6506	SLC1A2	ORPHA:442835
HP:0001298	Encephalopathy	8867	SYNJ1	ORPHA:442835
HP:0001298	Encephalopathy	2258	FGF13	ORPHA:442835
HP:0001298	Encephalopathy	477	ATP1A2	ORPHA:442835
HP:0001298	Encephalopathy	3745	KCNB1	ORPHA:442835
HP:0001298	Encephalopathy	284111	SLC13A5	ORPHA:442835
HP:0001298	Encephalopathy	25977	NECAP1	ORPHA:442835
HP:0001298	Encephalopathy	16	AARS1	ORPHA:442835
HP:0001298	Encephalopathy	6334	SCN8A	ORPHA:442835
HP:0001298	Encephalopathy	22866	CNKSR2	ORPHA:442835
HP:0001298	Encephalopathy	9568	GABBR2	ORPHA:442835
HP:0001298	Encephalopathy	2555	GABRA2	ORPHA:442835
HP:0001298	Encephalopathy	55152	DALRD3	ORPHA:442835
HP:0001298	Encephalopathy	26999	CYFIP2	ORPHA:442835
HP:0001298	Encephalopathy	4915	NTRK2	ORPHA:442835
HP:0001298	Encephalopathy	25973	PARS2	ORPHA:442835
HP:0001298	Encephalopathy	23097	CDK19	ORPHA:442835
HP:0001298	Encephalopathy	64801	ARV1	ORPHA:442835
HP:0001298	Encephalopathy	79947	DHDDS	ORPHA:442835
HP:0001298	Encephalopathy	2257	FGF12	ORPHA:442835
HP:0001298	Encephalopathy	5530	PPP3CA	ORPHA:442835
HP:0001298	Encephalopathy	6905	TBCE	OMIM:617207
HP:0001298	Encephalopathy	84947	SERAC1	OMIM:614739
HP:0001298	Encephalopathy	28976	ACAD9	ORPHA:99901
HP:0001298	Encephalopathy	28976	ACAD9	OMIM:611126
HP:0001298	Encephalopathy	113278	SLC52A3	OMIM:211530
HP:0001298	Encephalopathy	788	SLC25A20	ORPHA:159
HP:0001298	Encephalopathy	4204	MECP2	OMIM:300673
HP:0001298	Encephalopathy	51241	COX16	OMIM:619355
HP:0001298	Encephalopathy	11019	LIAS	OMIM:614462
HP:0001298	Encephalopathy	51660	MPC1	OMIM:614741
HP:0001298	Encephalopathy	3704	ITPA	OMIM:616647
HP:0001298	Encephalopathy	90624	LYRM7	OMIM:615838
HP:0001298	Encephalopathy	5428	POLG	OMIM:203700
HP:0001298	Encephalopathy	8659	ALDH4A1	ORPHA:79101
HP:0001298	Encephalopathy	80704	SLC19A3	OMIM:607483
HP:0001298	Encephalopathy	23137	SMC5	OMIM:620185
HP:0001298	Encephalopathy	128240	NAXE	OMIM:617186
HP:0001298	Encephalopathy	50485	SMARCAL1	ORPHA:1830
HP:0001298	Encephalopathy	7284	TUFM	OMIM:610678
HP:0001298	Encephalopathy	56652	TWNK	OMIM:271245
HP:0001298	Encephalopathy	4854	NOTCH3	ORPHA:136
HP:0001298	Encephalopathy	6904	TBCD	OMIM:617193
HP:0001298	Encephalopathy	55739	NAXD	OMIM:618321
HP:0001298	Encephalopathy	51	ACOX1	OMIM:618960
HP:0001298	Encephalopathy	440	ASNS	OMIM:615574
HP:0001298	Encephalopathy	1537	CYC1	OMIM:615453
HP:0001298	Encephalopathy	200205	IBA57	OMIM:615330
HP:0001298	Encephalopathy	162417	NAGS	ORPHA:927
HP:0001298	Encephalopathy	25974	MMACHC	ORPHA:79282
HP:0001298	Encephalopathy	2581	GALC	ORPHA:206436
HP:0001298	Encephalopathy	5660	PSAP	ORPHA:206436
HP:0001298	Encephalopathy	8813	DPM1	ORPHA:79322
HP:0001298	Encephalopathy	84153	RNASEH2C	OMIM:610329
HP:0001298	Encephalopathy	2639	GCDH	OMIM:231670
HP:0001298	Encephalopathy	5903	RANBP2	OMIM:608033
HP:0001298	Encephalopathy	197322	ACSF3	ORPHA:289504
HP:0001298	Encephalopathy	54658	UGT1A1	OMIM:218800
HP:0001298	Encephalopathy	2629	GBA1	ORPHA:77261
HP:0001298	Encephalopathy	2629	GBA1	ORPHA:77260
HP:0001298	Encephalopathy	10533	ATG7	OMIM:619422
HP:0001298	Encephalopathy	6576	SLC25A1	OMIM:615182
HP:0001298	Encephalopathy	7040	TGFB1	OMIM:618213
HP:0001298	Encephalopathy	84274	COQ5	OMIM:619028
HP:0001298	Encephalopathy	133686	NADK2	OMIM:616034
HP:0001298	Encephalopathy	57017	COQ9	OMIM:614654
HP:0001298	Encephalopathy	87178	PNPT1	OMIM:614932
HP:0001298	Encephalopathy	92609	TIMM50	ORPHA:505216
HP:0001298	Encephalopathy	8942	KYNU	ORPHA:79155
HP:0001298	Encephalopathy	5277	PIGA	OMIM:301072
HP:0001298	Encephalopathy	6584	SLC22A5	OMIM:212140
HP:0001298	Encephalopathy	6513	SLC2A1	ORPHA:71277
HP:0001298	Encephalopathy	5654	HTRA1	OMIM:600142
HP:0001298	Encephalopathy	11152	WDR45	ORPHA:329284
HP:0001298	Encephalopathy	11277	TREX1	OMIM:225750
HP:0001298	Encephalopathy	9256	TSPOAP1	ORPHA:101150
HP:0001298	Encephalopathy	7054	TH	ORPHA:101150
HP:0001298	Encephalopathy	8803	SUCLA2	OMIM:612073
HP:0001298	Encephalopathy	7840	ALMS1	ORPHA:64
HP:0001298	Encephalopathy	51594	NBAS	OMIM:616483
HP:0001298	Encephalopathy	60561	RINT1	OMIM:618641
HP:0001298	Encephalopathy	57169	ZNFX1	OMIM:619644
HP:0001298	Encephalopathy	5105	PCK1	OMIM:261680
HP:0001298	Encephalopathy	54914	FOCAD	OMIM:619991
HP:0001298	Encephalopathy	7289	TULP3	OMIM:619902
HP:0001298	Encephalopathy	10165	SLC25A13	ORPHA:247585
HP:0001298	Encephalopathy	6261	RYR1	ORPHA:466650
HP:0001298	Encephalopathy	331	XIAP	OMIM:308240
HP:0001298	Encephalopathy	4068	SH2D1A	OMIM:308240
HP:0001298	Encephalopathy	9451	EIF2AK3	ORPHA:1667
HP:0001298	Encephalopathy	1188	CLCNKB	ORPHA:358
HP:0001298	Encephalopathy	6559	SLC12A3	ORPHA:358
HP:0001298	Encephalopathy	617	BCS1L	OMIM:124000
HP:0001298	Encephalopathy	745	MYRF	OMIM:618113
HP:0001298	Encephalopathy	58472	SQOR	OMIM:619221
HP:0001298	Encephalopathy	7187	TRAF3	OMIM:614849
HP:0001298	Encephalopathy	10166	SLC25A15	ORPHA:415
HP:0001298	Encephalopathy	10166	SLC25A15	OMIM:238970
HP:0001298	Encephalopathy	5095	PCCA	OMIM:606054
HP:0001298	Encephalopathy	5096	PCCB	OMIM:606054
HP:0001298	Encephalopathy	3033	HADH	OMIM:231530
HP:0001298	Encephalopathy	3033	HADH	ORPHA:71212
HP:0001298	Encephalopathy	35	ACADS	ORPHA:26792
HP:0001298	Encephalopathy	2192	FBLN1	ORPHA:404451
HP:0001298	Encephalopathy	3028	HSD17B10	ORPHA:391428
HP:0001298	Encephalopathy	285175	UNC80	OMIM:616801
HP:0001298	Encephalopathy	55704	CCDC88A	OMIM:617507
HP:0001298	Encephalopathy	728294	D2HGDH	OMIM:600721
HP:0001298	Encephalopathy	7084	TK2	ORPHA:254875
HP:0001298	Encephalopathy	283989	TSEN54	OMIM:225753
HP:0001298	Encephalopathy	9326	ZNHIT3	OMIM:260565
HP:0001298	Encephalopathy	1374	CPT1A	OMIM:255120
HP:0001298	Encephalopathy	2775	GNAO1	OMIM:617493
HP:0001298	Encephalopathy	2775	GNAO1	OMIM:615473
HP:0001298	Encephalopathy	1183	CLCN4	OMIM:300114
HP:0001298	Encephalopathy	343450	KCNT2	OMIM:617771
HP:0001298	Encephalopathy	23241	PACS2	OMIM:618067
HP:0001298	Encephalopathy	9254	CACNA2D2	OMIM:618501
HP:0001298	Encephalopathy	8818	DPM2	ORPHA:329178
HP:0001298	Encephalopathy	53616	ADAM22	OMIM:617933
HP:0001298	Encephalopathy	10274	STAG1	ORPHA:502434
HP:0001298	Encephalopathy	79796	ALG9	OMIM:608776
HP:0001298	Encephalopathy	1119	CHKA	OMIM:620023
HP:0001298	Encephalopathy	170302	ARX	OMIM:308350
HP:0001298	Encephalopathy	79587	CARS2	ORPHA:477774
HP:0001298	Encephalopathy	79587	CARS2	OMIM:616672
HP:0001298	Encephalopathy	57465	TBC1D24	ORPHA:352596
HP:0001298	Encephalopathy	57465	TBC1D24	OMIM:615338
HP:0001298	Encephalopathy	790	CAD	OMIM:616457
HP:0001298	Encephalopathy	6487	ST3GAL3	OMIM:615006
HP:0001298	Encephalopathy	2902	GRIN1	OMIM:617820
HP:0001298	Encephalopathy	2902	GRIN1	OMIM:619814
HP:0001298	Encephalopathy	55904	KMT2E	OMIM:618512
HP:0001298	Encephalopathy	57582	KCNT1	OMIM:614959
HP:0001298	Encephalopathy	63908	NAPB	OMIM:620033
HP:0001298	Encephalopathy	3192	HNRNPU	OMIM:617391
HP:0001298	Encephalopathy	2560	GABRB1	OMIM:617153
HP:0001298	Encephalopathy	23732	FRRS1L	OMIM:616981
HP:0001298	Encephalopathy	79641	ROGDI	OMIM:226750
HP:0001298	Encephalopathy	3899	AFF3	OMIM:619297
HP:0001298	Encephalopathy	9512	PMPCB	OMIM:617954
HP:0001298	Encephalopathy	23229	ARHGEF9	ORPHA:163985
HP:0001298	Encephalopathy	23229	ARHGEF9	OMIM:300607
HP:0001298	Encephalopathy	6709	SPTAN1	OMIM:613477
HP:0001298	Encephalopathy	9378	NRXN1	OMIM:614325
HP:0001298	Encephalopathy	54675	CRLS1	OMIM:620167
HP:0001298	Encephalopathy	8604	SLC25A12	OMIM:612949
HP:0001298	Encephalopathy	23258	DENND5A	OMIM:617281
HP:0001298	Encephalopathy	11342	RNF13	OMIM:618379
HP:0001298	Encephalopathy	11342	RNF13	ORPHA:544503
HP:0001298	Encephalopathy	4905	NSF	OMIM:619340
HP:0001298	Encephalopathy	4761	NEUROD2	OMIM:618374
HP:0001298	Encephalopathy	56479	KCNQ5	OMIM:617601
HP:0001298	Encephalopathy	1641	DCX	ORPHA:2148
HP:0001298	Encephalopathy	388962	BOLA3	OMIM:614299
HP:0001298	Encephalopathy	2903	GRIN2A	ORPHA:98818
HP:0001298	Encephalopathy	1798	DPAGT1	ORPHA:86309
HP:0001298	Encephalopathy	6792	CDKL5	OMIM:300672
HP:0001298	Encephalopathy	6812	STXBP1	OMIM:612164
HP:0001298	Encephalopathy	10815	CPLX1	OMIM:617976
HP:0001298	Encephalopathy	3747	KCNC2	OMIM:619913
HP:0001298	Encephalopathy	4191	MDH2	OMIM:617339
HP:0001298	Encephalopathy	79751	SLC25A22	OMIM:609304
HP:0001298	Encephalopathy	79751	SLC25A22	ORPHA:1935
HP:0001298	Encephalopathy	79759	ZNF668	OMIM:620194
HP:0001298	Encephalopathy	10236	HNRNPR	OMIM:620073
HP:0001298	Encephalopathy	60558	GUF1	OMIM:617065
HP:0001298	Encephalopathy	7358	UGDH	OMIM:618792
HP:0001298	Encephalopathy	2904	GRIN2B	OMIM:616139
HP:0001298	Encephalopathy	4190	MDH1	OMIM:618959
HP:0001298	Encephalopathy	23031	MAST3	OMIM:620115
HP:0001298	Encephalopathy	7355	SLC35A2	OMIM:300896
HP:0001298	Encephalopathy	6324	SCN1B	OMIM:617350
HP:0001298	Encephalopathy	197258	FCSK	OMIM:618324
HP:0001298	Encephalopathy	54802	TRIT1	OMIM:617873
HP:0001298	Encephalopathy	777	CACNA1E	OMIM:618285
HP:0001298	Encephalopathy	51227	PIGP	OMIM:617599
HP:0001298	Encephalopathy	3785	KCNQ2	ORPHA:439218
HP:0001298	Encephalopathy	3785	KCNQ2	OMIM:613720
HP:0001298	Encephalopathy	2744	GLS	OMIM:618328
HP:0001298	Encephalopathy	5048	PAFAH1B1	ORPHA:95232
HP:0001298	Encephalopathy	85440	DOCK7	OMIM:615859
HP:0001298	Encephalopathy	1173	AP2M1	ORPHA:1942
HP:0001298	Encephalopathy	340533	NEXMIF	ORPHA:1942
HP:0001298	Encephalopathy	6529	SLC6A1	ORPHA:1942
HP:0001298	Encephalopathy	51117	COQ4	OMIM:616276
HP:0001298	Encephalopathy	221692	PHACTR1	OMIM:618298
HP:0001298	Encephalopathy	4208	MEF2C	OMIM:613443
HP:0001298	Encephalopathy	2554	GABRA1	OMIM:615744
HP:0001298	Encephalopathy	23236	PLCB1	OMIM:613722
HP:0001298	Encephalopathy	10695	CNPY3	OMIM:617929
HP:0034309	Multiflagellar spermatozoa	6795	AURKC	OMIM:243060
HP:0034309	Multiflagellar spermatozoa	8468	FKBP6	OMIM:620103
HP:0034306	Ventricular bigeminy	805	CALM2	OMIM:616249
HP:0034306	Ventricular bigeminy	11232	POLG2	OMIM:610131
HP:0034308	Prolonged P wave	2702	GJA5	OMIM:614049
HP:0034308	Prolonged P wave	55800	SCN3B	OMIM:613120
HP:0034307	Elevated left ventricular end-diastolic diameter	4878	NPPA	OMIM:612201
HP:0034307	Elevated left ventricular end-diastolic diameter	58528	RRAGD	OMIM:620152
HP:0008451	Posterior vertebral hypoplasia	1301	COL11A1	OMIM:228520
HP:0008453	Congenital kyphoscoliosis	2201	FBN2	OMIM:121050
HP:0008453	Congenital kyphoscoliosis	2201	FBN2	ORPHA:115
HP:0008453	Congenital kyphoscoliosis	126792	B3GALT6	ORPHA:536467
HP:0008452	Wafer-thin platyspondyly	1280	COL2A1	OMIM:151210
HP:0008455	Dysplastic sacrum	51025	PAM16	OMIM:613320
HP:0008454	Lumbar kyphosis	1280	COL2A1	OMIM:156550
HP:0008454	Lumbar kyphosis	10533	ATG7	OMIM:619422
HP:0008454	Lumbar kyphosis	2261	FGFR3	OMIM:100800
HP:0008454	Lumbar kyphosis	2588	GALNS	OMIM:253000
HP:0008454	Lumbar kyphosis	6197	RPS6KA3	OMIM:303600
HP:0008454	Lumbar kyphosis	65082	VPS33A	ORPHA:505248
HP:0008454	Lumbar kyphosis	84265	POLR3GL	OMIM:619234
HP:0008454	Lumbar kyphosis	55719	SLF2	OMIM:620184
HP:0008457	Caudal interpedicular narrowing	5144	PDE4D	ORPHA:439822
HP:0008457	Caudal interpedicular narrowing	3835	KIF22	OMIM:603546
HP:0008457	Caudal interpedicular narrowing	4796	TONSL	OMIM:271510
HP:0008456	C2-C3 subluxation	2317	FLNB	OMIM:272460
HP:0008458	Progressive congenital scoliosis	5351	PLOD1	OMIM:225400
HP:0008458	Progressive congenital scoliosis	246329	STAC3	ORPHA:168572
HP:0031854	Left Isomerism	55997	CFC1	OMIM:605376
HP:0031854	Left Isomerism	100128908	CIROP	OMIM:619702
HP:0031854	Left Isomerism	1770	DNAH9	OMIM:618300
HP:0034310	Post-vaccination yellow fever	3454	IFNAR1	OMIM:619935
HP:0034311	Hypoplastic optic chiasm	220	ALDH1A3	OMIM:615113
HP:0034311	Hypoplastic optic chiasm	51112	TRAPPC12	OMIM:617669
HP:0034311	Hypoplastic optic chiasm	4976	OPA1	OMIM:210000
HP:0034313	Hyperdynamic left ventricular ejection fraction	7414	VCL	OMIM:613255
HP:0034314	Abnormal left ventricular ejection fraction	7156	TOP3A	OMIM:618098
HP:0034314	Abnormal left ventricular ejection fraction	291	SLC25A4	ORPHA:254892
HP:0034314	Abnormal left ventricular ejection fraction	5428	POLG	ORPHA:254892
HP:0034314	Abnormal left ventricular ejection fraction	56652	TWNK	ORPHA:254892
HP:0034314	Abnormal left ventricular ejection fraction	11232	POLG2	ORPHA:254892
HP:0034314	Abnormal left ventricular ejection fraction	50484	RRM2B	ORPHA:254892
HP:0034314	Abnormal left ventricular ejection fraction	79717	PPCS	OMIM:618189
HP:0034314	Abnormal left ventricular ejection fraction	37	ACADVL	OMIM:201475
HP:0034314	Abnormal left ventricular ejection fraction	4607	MYBPC3	OMIM:115197
HP:0034314	Abnormal left ventricular ejection fraction	4624	MYH6	OMIM:613252
HP:0034314	Abnormal left ventricular ejection fraction	5664	PSEN2	OMIM:613697
HP:0034314	Abnormal left ventricular ejection fraction	4878	NPPA	OMIM:612201
HP:0034314	Abnormal left ventricular ejection fraction	4878	NPPA	ORPHA:1344
HP:0034314	Abnormal left ventricular ejection fraction	3910	LAMA4	OMIM:615235
HP:0034314	Abnormal left ventricular ejection fraction	7139	TNNT2	OMIM:115195
HP:0034314	Abnormal left ventricular ejection fraction	7139	TNNT2	OMIM:601494
HP:0034314	Abnormal left ventricular ejection fraction	7139	TNNT2	OMIM:612422
HP:0034314	Abnormal left ventricular ejection fraction	5894	RAF1	OMIM:615916
HP:0034314	Abnormal left ventricular ejection fraction	8048	CSRP3	OMIM:607482
HP:0034314	Abnormal left ventricular ejection fraction	4000	LMNA	OMIM:181350
HP:0034314	Abnormal left ventricular ejection fraction	8291	DYSF	ORPHA:268
HP:0034314	Abnormal left ventricular ejection fraction	1674	DES	OMIM:604765
HP:0034314	Abnormal left ventricular ejection fraction	80206	FHOD3	OMIM:619402
HP:0034314	Abnormal left ventricular ejection fraction	368	ABCC6	OMIM:614473
HP:0034314	Abnormal left ventricular ejection fraction	57798	GATAD1	OMIM:614672
HP:0034314	Abnormal left ventricular ejection fraction	7276	TTR	ORPHA:85451
HP:0034314	Abnormal left ventricular ejection fraction	4625	MYH7	OMIM:613426
HP:0034314	Abnormal left ventricular ejection fraction	3908	LAMA2	ORPHA:258
HP:0034314	Abnormal left ventricular ejection fraction	58528	RRAGD	OMIM:620152
HP:0034314	Abnormal left ventricular ejection fraction	6123	RPL3L	OMIM:619371
HP:0034314	Abnormal left ventricular ejection fraction	388753	COA6	OMIM:616501
HP:0034314	Abnormal left ventricular ejection fraction	2702	GJA5	OMIM:614049
HP:0034314	Abnormal left ventricular ejection fraction	6331	SCN5A	ORPHA:1344
HP:0034314	Abnormal left ventricular ejection fraction	6331	SCN5A	OMIM:601154
HP:0034314	Abnormal left ventricular ejection fraction	439	GET3	OMIM:620203
HP:0034314	Abnormal left ventricular ejection fraction	7716	VEZF1	OMIM:620247
HP:0034314	Abnormal left ventricular ejection fraction	91624	NEXN	OMIM:613876
HP:0034314	Abnormal left ventricular ejection fraction	91624	NEXN	OMIM:613122
HP:0034314	Abnormal left ventricular ejection fraction	2218	FKTN	OMIM:611615
HP:0034314	Abnormal left ventricular ejection fraction	4634	MYL3	OMIM:608751
HP:0034314	Abnormal left ventricular ejection fraction	51778	MYOZ2	OMIM:613838
HP:0034314	Abnormal left ventricular ejection fraction	57505	AARS2	OMIM:614096
HP:0034314	Abnormal left ventricular ejection fraction	3762	KCNJ5	OMIM:613485
HP:0034314	Abnormal left ventricular ejection fraction	7134	TNNC1	OMIM:613243
HP:0034314	Abnormal left ventricular ejection fraction	6389	SDHA	OMIM:613642
HP:0034314	Abnormal left ventricular ejection fraction	7273	TTN	OMIM:604145
HP:0034314	Abnormal left ventricular ejection fraction	6444	SGCD	OMIM:606685
HP:0034314	Abnormal left ventricular ejection fraction	567	B2M	ORPHA:314652
HP:0034314	Abnormal left ventricular ejection fraction	1410	CRYAB	OMIM:615184
HP:0034314	Abnormal left ventricular ejection fraction	5663	PSEN1	OMIM:613694
HP:0034314	Abnormal left ventricular ejection fraction	9529	BAG5	OMIM:619747
HP:0034314	Abnormal left ventricular ejection fraction	1829	DSG2	OMIM:612877
HP:0034314	Abnormal left ventricular ejection fraction	3920	LAMP2	OMIM:300257
HP:0034314	Abnormal left ventricular ejection fraction	442721	LMOD2	OMIM:619897
HP:0034314	Abnormal left ventricular ejection fraction	84705	GTPBP3	ORPHA:444013
HP:0034314	Abnormal left ventricular ejection fraction	7137	TNNI3	OMIM:613286
HP:0034314	Abnormal left ventricular ejection fraction	7414	VCL	OMIM:613255
HP:0034315	Chronic cough	161582	DNAAF4	OMIM:615482
HP:0034315	Chronic cough	10551	AGR2	OMIM:620233
HP:0034315	Chronic cough	85452	CFAP74	OMIM:620197
HP:0034315	Chronic cough	5971	RELB	OMIM:617585
HP:0034316	Thinning of the substantia nigra pars compacta	4929	NR4A2	OMIM:619911
HP:0034317	Unusual viral infection	3561	IL2RG	ORPHA:276
HP:0034317	Unusual viral infection	641	BLM	ORPHA:125
HP:0034317	Unusual viral infection	915	CD3D	ORPHA:169160
HP:0034317	Unusual viral infection	916	CD3E	ORPHA:169160
HP:0034317	Unusual viral infection	919	CD247	ORPHA:169160
HP:0034317	Unusual viral infection	919	CD247	OMIM:610163
HP:0034317	Unusual viral infection	5994	RFXAP	ORPHA:572
HP:0034317	Unusual viral infection	4261	CIITA	ORPHA:572
HP:0034317	Unusual viral infection	5993	RFX5	ORPHA:572
HP:0034317	Unusual viral infection	8625	RFXANK	ORPHA:572
HP:0034317	Unusual viral infection	6772	STAT1	ORPHA:391487
HP:0034317	Unusual viral infection	10043	TOM1	ORPHA:391487
HP:0034317	Unusual viral infection	7454	WAS	OMIM:301000
HP:0034317	Unusual viral infection	4153	MBL2	OMIM:614372
HP:0034317	Unusual viral infection	841	CASP8	OMIM:607271
HP:0034317	Unusual viral infection	81622	UNC93B1	OMIM:610551
HP:0034317	Unusual viral infection	9138	ARHGEF1	OMIM:618459
HP:0034317	Unusual viral infection	3514	IGKC	ORPHA:183675
HP:0034317	Unusual viral infection	3501	IGHG2	ORPHA:183675
HP:0034317	Unusual viral infection	9094	UNC119	OMIM:615518
HP:0034317	Unusual viral infection	10621	POLR3F	OMIM:619872
HP:0034317	Unusual viral infection	4791	NFKB2	OMIM:615577
HP:0034317	Unusual viral infection	5966	REL	OMIM:619652
HP:0034317	Unusual viral infection	2214	FCGR3A	OMIM:615707
HP:0034317	Unusual viral infection	7174	TPP2	OMIM:619220
HP:0034318	Unusual virus reactivation	3561	IL2RG	ORPHA:276
HP:0034318	Unusual virus reactivation	641	BLM	ORPHA:125
HP:0034318	Unusual virus reactivation	915	CD3D	ORPHA:169160
HP:0034318	Unusual virus reactivation	916	CD3E	ORPHA:169160
HP:0034318	Unusual virus reactivation	919	CD247	ORPHA:169160
HP:0034318	Unusual virus reactivation	919	CD247	OMIM:610163
HP:0034318	Unusual virus reactivation	5994	RFXAP	ORPHA:572
HP:0034318	Unusual virus reactivation	4261	CIITA	ORPHA:572
HP:0034318	Unusual virus reactivation	5993	RFX5	ORPHA:572
HP:0034318	Unusual virus reactivation	8625	RFXANK	ORPHA:572
HP:0034318	Unusual virus reactivation	6772	STAT1	ORPHA:391487
HP:0034318	Unusual virus reactivation	10043	TOM1	ORPHA:391487
HP:0034318	Unusual virus reactivation	7454	WAS	OMIM:301000
HP:0034318	Unusual virus reactivation	4153	MBL2	OMIM:614372
HP:0034318	Unusual virus reactivation	841	CASP8	OMIM:607271
HP:0034318	Unusual virus reactivation	81622	UNC93B1	OMIM:610551
HP:0034318	Unusual virus reactivation	9138	ARHGEF1	OMIM:618459
HP:0034318	Unusual virus reactivation	3514	IGKC	ORPHA:183675
HP:0034318	Unusual virus reactivation	3501	IGHG2	ORPHA:183675
HP:0034318	Unusual virus reactivation	9094	UNC119	OMIM:615518
HP:0034318	Unusual virus reactivation	10621	POLR3F	OMIM:619872
HP:0034318	Unusual virus reactivation	4791	NFKB2	OMIM:615577
HP:0034318	Unusual virus reactivation	5966	REL	OMIM:619652
HP:0034318	Unusual virus reactivation	2214	FCGR3A	OMIM:615707
HP:0034318	Unusual virus reactivation	7174	TPP2	OMIM:619220
HP:0034319	CNS vasculitis with reactivation of varicella-zoster virus	10621	POLR3F	OMIM:619872
HP:0008460	Hypoplastic spinal processes	9241	NOG	OMIM:186500
HP:0008462	Cervical instability	2137	EXTL3	ORPHA:508533
HP:0008462	Cervical instability	2137	EXTL3	OMIM:617425
HP:0008462	Cervical instability	4853	NOTCH2	OMIM:102500
HP:0008462	Cervical instability	1280	COL2A1	ORPHA:94068
HP:0008462	Cervical instability	1280	COL2A1	ORPHA:93346
HP:0008463	Central vertebral hypoplasia	65992	DDRGK1	OMIM:602557
HP:0008463	Central vertebral hypoplasia	65992	DDRGK1	ORPHA:93352
HP:0008468	Abnormal sacral segmentation	6872	TAF1	ORPHA:480907
HP:0008467	Thoracic hemivertebrae	4920	ROR2	OMIM:268310
HP:0008467	Thoracic hemivertebrae	22827	PUF60	ORPHA:508498
HP:0008467	Thoracic hemivertebrae	10735	STAG2	OMIM:301043
HP:0008467	Thoracic hemivertebrae	3021	H3-3B	OMIM:619721
HP:0008469	Cervical vertebral dysplasia	11128	POLR3A	ORPHA:3455
HP:0008469	Cervical vertebral dysplasia	415	ARSL	ORPHA:79345
HP:0031855	Right isomerism	7547	ZIC3	OMIM:306955
HP:0031855	Right isomerism	4838	NODAL	OMIM:270100
HP:0031855	Right isomerism	2657	GDF1	OMIM:208530
HP:0031867	Neck hypertonia	10157	AASS	ORPHA:2203
HP:0031868	Optic ataxia	348	APOE	OMIM:607822
HP:0031868	Optic ataxia	5663	PSEN1	OMIM:607822
HP:0031869	Recurrent joint dislocation	10586	MAB21L2	OMIM:615877
HP:0031869	Recurrent joint dislocation	6261	RYR1	ORPHA:178145
HP:0031869	Recurrent joint dislocation	63895	PIEZO2	OMIM:108145
HP:0031869	Recurrent joint dislocation	54928	BPNT2	OMIM:614078
HP:0031869	Recurrent joint dislocation	5567	PRKACB	OMIM:619143
HP:0031869	Recurrent joint dislocation	4000	LMNA	OMIM:212112
HP:0031869	Recurrent joint dislocation	1278	COL1A2	ORPHA:230851
HP:0031869	Recurrent joint dislocation	113189	CHST14	ORPHA:2953
HP:0031869	Recurrent joint dislocation	29940	DSE	ORPHA:2953
HP:0031869	Recurrent joint dislocation	1277	COL1A1	OMIM:619115
HP:0031869	Recurrent joint dislocation	1290	COL5A2	OMIM:130010
HP:0031869	Recurrent joint dislocation	10526	IPO8	OMIM:619472
HP:0031860	Abnormal heart rate variability	2260	FGFR1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2260	FGFR1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	10735	STAG2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	10735	STAG2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93925
HP:0031860	Abnormal heart rate variability	8243	SMC1A	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93925
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:220386
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93926
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93924
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93925
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93925
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93926
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93924
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:220386
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93926
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93924
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93925
HP:0031860	Abnormal heart rate variability	23007	PLCH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2581	GALC	ORPHA:206436
HP:0031860	Abnormal heart rate variability	5660	PSAP	ORPHA:206436
HP:0031860	Abnormal heart rate variability	8567	MADD	OMIM:619004
HP:0031860	Abnormal heart rate variability	8567	MADD	OMIM:619005
HP:0031860	Abnormal heart rate variability	8929	PHOX2B	OMIM:209880
HP:0031860	Abnormal heart rate variability	776	CACNA1D	OMIM:614896
HP:0031861	Decreased heart rate variability	8567	MADD	OMIM:619004
HP:0031861	Decreased heart rate variability	8567	MADD	OMIM:619005
HP:0031861	Decreased heart rate variability	8929	PHOX2B	OMIM:209880
HP:0031862	Increased heart rate variability	776	CACNA1D	OMIM:614896
HP:0031863	Bloodstream infectious agent	84061	MAGT1	OMIM:300853
HP:0031863	Bloodstream infectious agent	10043	TOM1	OMIM:619510
HP:0031863	Bloodstream infectious agent	54790	TET2	OMIM:619126
HP:0031863	Bloodstream infectious agent	939	CD27	OMIM:615122
HP:0031863	Bloodstream infectious agent	28755	TRAC	OMIM:615387
HP:0031863	Bloodstream infectious agent	3702	ITK	OMIM:613011
HP:0031863	Bloodstream infectious agent	50619	DEF6	OMIM:619573
HP:0031863	Bloodstream infectious agent	27040	LAT	OMIM:617514
HP:0031863	Bloodstream infectious agent	5295	PIK3R1	OMIM:616005
HP:0031863	Bloodstream infectious agent	5580	PRKCD	OMIM:615559
HP:0031863	Bloodstream infectious agent	22806	IKZF3	OMIM:619437
HP:0031863	Bloodstream infectious agent	5238	PGM3	OMIM:615816
HP:0031863	Bloodstream infectious agent	1991	ELANE	ORPHA:2686
HP:0031863	Bloodstream infectious agent	5966	REL	OMIM:619652
HP:0031863	Bloodstream infectious agent	7174	TPP2	OMIM:619220
HP:0031863	Bloodstream infectious agent	3560	IL2RB	OMIM:618495
HP:0031863	Bloodstream infectious agent	1503	CTPS1	OMIM:615897
HP:0031864	Bacteremia	1991	ELANE	ORPHA:2686
HP:0031865	Abnormal liver physiology	2271	FH	OMIM:606812
HP:0031865	Abnormal liver physiology	80270	HSD3B7	OMIM:607765
HP:0031865	Abnormal liver physiology	3376	IARS1	OMIM:617093
HP:0031865	Abnormal liver physiology	164656	TMPRSS6	ORPHA:209981
HP:0031865	Abnormal liver physiology	8647	ABCB11	OMIM:601847
HP:0031865	Abnormal liver physiology	8647	ABCB11	OMIM:605479
HP:0031865	Abnormal liver physiology	6309	SC5D	ORPHA:46059
HP:0031865	Abnormal liver physiology	6309	SC5D	OMIM:607330
HP:0031865	Abnormal liver physiology	54914	FOCAD	OMIM:619991
HP:0031865	Abnormal liver physiology	6718	AKR1D1	OMIM:235555
HP:0031865	Abnormal liver physiology	9414	TJP2	OMIM:615878
HP:0031865	Abnormal liver physiology	5236	PGM1	OMIM:614921
HP:0031865	Abnormal liver physiology	5195	PEX14	OMIM:614887
HP:0031865	Abnormal liver physiology	9420	CYP7B1	OMIM:613812
HP:0031865	Abnormal liver physiology	23600	AMACR	OMIM:214950
HP:0031865	Abnormal liver physiology	5314	PKHD1	ORPHA:53035
HP:0031865	Abnormal liver physiology	10165	SLC25A13	OMIM:605814
HP:0031865	Abnormal liver physiology	5244	ABCB4	OMIM:602347
HP:0031865	Abnormal liver physiology	5244	ABCB4	ORPHA:69663
HP:0031865	Abnormal liver physiology	5244	ABCB4	OMIM:614972
HP:0031865	Abnormal liver physiology	197131	UBR1	OMIM:243800
HP:0031865	Abnormal liver physiology	55610	VPS50	OMIM:619685
HP:0031865	Abnormal liver physiology	6514	SLC2A2	OMIM:227810
HP:0031865	Abnormal liver physiology	162	AP1B1	ORPHA:171851
HP:0031865	Abnormal liver physiology	1174	AP1S1	ORPHA:171851
HP:0031865	Abnormal liver physiology	200931	SLC51A	OMIM:619484
HP:0031865	Abnormal liver physiology	84936	ZFYVE19	OMIM:619849
HP:0031865	Abnormal liver physiology	5205	ATP8B1	OMIM:243300
HP:0031865	Abnormal liver physiology	5205	ATP8B1	OMIM:211600
HP:0031865	Abnormal liver physiology	427	ASAH1	ORPHA:333
HP:0031865	Abnormal liver physiology	7840	ALMS1	ORPHA:64
HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	2273	FHL1	OMIM:300718
HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	2273	FHL1	OMIM:300717
HP:0034321	Elevated circulating guanidinoacetic acid concentration	2593	GAMT	OMIM:612736
HP:0034322	Reduced galactocerebrosidase activity	2581	GALC	OMIM:245200
HP:0034323	Reduced circulating growth hormone concentration	2688	GH1	OMIM:612781
HP:0034323	Reduced circulating growth hormone concentration	2688	GH1	OMIM:262400
HP:0034323	Reduced circulating growth hormone concentration	5015	OTX2	OMIM:613986
HP:0034323	Reduced circulating growth hormone concentration	5449	POU1F1	OMIM:613038
HP:0034323	Reduced circulating growth hormone concentration	1828	DSG1	OMIM:615508
HP:0034323	Reduced circulating growth hormone concentration	5626	PROP1	OMIM:262600
HP:0034323	Reduced circulating growth hormone concentration	92935	MARS2	OMIM:616430
HP:0034323	Reduced circulating growth hormone concentration	91147	TMEM67	OMIM:602152
HP:0034324	Brachiocephalic artery aneurysm	59	ACTA2	OMIM:613834
HP:0034325	Common carotid artery aneurysm	59	ACTA2	OMIM:613834
HP:0034327	Posterior corneal stroma punctiform multicolored opacities	10935	PRDX3	OMIM:619871
HP:0034328	Fibro-obliterative bile-duct lesion	84936	ZFYVE19	OMIM:619849
HP:0008470	Lower thoracic interpediculate narrowness	79158	GNPTAB	OMIM:252500
HP:0008472	Prominent protruding coccyx	6872	TAF1	ORPHA:480907
HP:0008472	Prominent protruding coccyx	6872	TAF1	OMIM:300966
HP:0008472	Prominent protruding coccyx	6913	TBX15	OMIM:260660
HP:0008475	Hypoplastic sacral vertebrae	6223	RPS19	OMIM:105650
HP:0008477	Poorly ossified cervical vertebrae	6662	SOX9	ORPHA:140
HP:0008477	Poorly ossified cervical vertebrae	6662	SOX9	OMIM:114290
HP:0008476	Irregular sclerotic endplates	4322	MMP13	OMIM:602111
HP:0008476	Irregular sclerotic endplates	11128	POLR3A	ORPHA:3455
HP:0008478	Scheuermann-like vertebral changes	84295	PHF6	OMIM:301900
HP:0031878	Acromicria	1836	SLC26A2	ORPHA:93307
HP:0031878	Acromicria	2688	GH1	OMIM:612781
HP:0031878	Acromicria	388015	RTL1	ORPHA:254525
HP:0031878	Acromicria	8788	DLK1	ORPHA:254525
HP:0031878	Acromicria	55384	MEG3	ORPHA:254525
HP:0031878	Acromicria	7681	MKRN3	OMIM:176270
HP:0031878	Acromicria	3653	IPW	OMIM:176270
HP:0031878	Acromicria	54551	MAGEL2	OMIM:176270
HP:0031878	Acromicria	791114	PWRN1	OMIM:176270
HP:0031878	Acromicria	100033413	SNORD116-1	OMIM:176270
HP:0031878	Acromicria	8924	HERC2	OMIM:176270
HP:0031878	Acromicria	145624	PWAR1	OMIM:176270
HP:0031878	Acromicria	23742	NPAP1	OMIM:176270
HP:0031878	Acromicria	338433	SNORD115-1	OMIM:176270
HP:0031879	Abnormal eyelid physiology	57167	SALL4	ORPHA:233
HP:0031879	Abnormal eyelid physiology	9935	MAFB	ORPHA:233
HP:0031879	Abnormal eyelid physiology	1123	CHN1	ORPHA:233
HP:0031879	Abnormal eyelid physiology	7291	TWIST1	ORPHA:794
HP:0031879	Abnormal eyelid physiology	2263	FGFR2	ORPHA:794
HP:0031879	Abnormal eyelid physiology	2261	FGFR3	ORPHA:794
HP:0031879	Abnormal eyelid physiology	1816	DRD5	OMIM:606798
HP:0031879	Abnormal eyelid physiology	2512	FTL	OMIM:606159
HP:0031879	Abnormal eyelid physiology	2512	FTL	ORPHA:157846
HP:0031879	Abnormal eyelid physiology	63982	ANO3	OMIM:615034
HP:0031879	Abnormal eyelid physiology	63982	ANO3	ORPHA:420485
HP:0031879	Abnormal eyelid physiology	1356	CP	OMIM:604290
HP:0031879	Abnormal eyelid physiology	1356	CP	ORPHA:48818
HP:0031879	Abnormal eyelid physiology	10382	TUBB4A	ORPHA:98805
HP:0031879	Abnormal eyelid physiology	55145	THAP1	ORPHA:98806
HP:0031879	Abnormal eyelid physiology	10815	CPLX1	ORPHA:352582
HP:0031879	Abnormal eyelid physiology	57465	TBC1D24	ORPHA:352582
HP:0031879	Abnormal eyelid physiology	6872	TAF1	ORPHA:53351
HP:0031879	Abnormal eyelid physiology	3339	HSPG2	ORPHA:800
HP:0031879	Abnormal eyelid physiology	3208	HPCA	ORPHA:99657
HP:0031879	Abnormal eyelid physiology	3208	HPCA	OMIM:224500
HP:0031879	Abnormal eyelid physiology	1822	ATN1	ORPHA:101
HP:0031879	Abnormal eyelid physiology	84172	POLR1B	ORPHA:861
HP:0031879	Abnormal eyelid physiology	9533	POLR1C	ORPHA:861
HP:0031879	Abnormal eyelid physiology	51082	POLR1D	ORPHA:861
HP:0031879	Abnormal eyelid physiology	6949	TCOF1	ORPHA:861
HP:0031879	Abnormal eyelid physiology	51102	MECR	OMIM:617282
HP:0031879	Abnormal eyelid physiology	56910	STARD7	OMIM:607876
HP:0031879	Abnormal eyelid physiology	11315	PARK7	OMIM:606324
HP:0031879	Abnormal eyelid physiology	79734	KCTD17	OMIM:616398
HP:0031879	Abnormal eyelid physiology	23230	VPS13A	ORPHA:2388
HP:0031879	Abnormal eyelid physiology	16	AARS1	OMIM:616339
HP:0031879	Abnormal eyelid physiology	1644	DDC	OMIM:608643
HP:0031879	Abnormal eyelid physiology	773	CACNA1A	ORPHA:98758
HP:0031879	Abnormal eyelid physiology	1861	TOR1A	OMIM:128100
HP:0031879	Abnormal eyelid physiology	6908	TBP	ORPHA:98759
HP:0031879	Abnormal eyelid physiology	8398	PLA2G6	ORPHA:199351
HP:0031879	Abnormal eyelid physiology	8398	PLA2G6	OMIM:612953
HP:0031879	Abnormal eyelid physiology	4137	MAPT	OMIM:601104
HP:0031879	Abnormal eyelid physiology	8867	SYNJ1	OMIM:615530
HP:0031879	Abnormal eyelid physiology	23400	ATP13A2	ORPHA:306674
HP:0031879	Abnormal eyelid physiology	80025	PANK2	OMIM:234200
HP:0031879	Abnormal eyelid physiology	1180	CLCN1	OMIM:160800
HP:0031879	Abnormal eyelid physiology	1180	CLCN1	OMIM:255700
HP:0031870	Phosphohydroxylysinuria	85007	PHYKPL	OMIM:615011
HP:0031873	Early chronotype	8864	PER2	OMIM:604348
HP:0031873	Early chronotype	1453	CSNK1D	OMIM:615224
HP:0031873	Early chronotype	8914	TIMELESS	OMIM:620015
HP:0031873	Early chronotype	8863	PER3	OMIM:616882
HP:0031874	Late chronotype	57680	CHD8	OMIM:615032
HP:0031875	Abnormal circulating hepcidin concentration	164656	TMPRSS6	OMIM:206200
HP:0031875	Abnormal circulating hepcidin concentration	654	BMP6	OMIM:620121
HP:0031877	Elevated circulating hepcidin concentration	164656	TMPRSS6	OMIM:206200
HP:0031877	Elevated circulating hepcidin concentration	654	BMP6	OMIM:620121
HP:0034332	Cognitive regression	54902	TTC19	OMIM:615157
HP:0034332	Cognitive regression	2058	EPRS1	OMIM:617951
HP:0034333	Increased circulating hypoxanthine concentration	55034	MOCOS	OMIM:603592
HP:0034335	Inheritance modifier	11281	POU6F2	OMIM:601583
HP:0034335	Inheritance modifier	6714	SRC	OMIM:114500
HP:0034335	Inheritance modifier	10395	DLC1	OMIM:114500
HP:0034335	Inheritance modifier	11200	CHEK2	OMIM:114500
HP:0034335	Inheritance modifier	11200	CHEK2	OMIM:259500
HP:0034335	Inheritance modifier	11200	CHEK2	OMIM:176807
HP:0034335	Inheritance modifier	11200	CHEK2	OMIM:114480
HP:0034335	Inheritance modifier	8313	AXIN2	OMIM:114500
HP:0034335	Inheritance modifier	2033	EP300	OMIM:114500
HP:0034335	Inheritance modifier	5782	PTPN12	OMIM:114500
HP:0034335	Inheritance modifier	5320	PLA2G2A	OMIM:114500
HP:0034335	Inheritance modifier	6790	AURKA	OMIM:114500
HP:0034335	Inheritance modifier	27030	MLH3	OMIM:114500
HP:0034335	Inheritance modifier	27030	MLH3	OMIM:608089
HP:0034335	Inheritance modifier	581	BAX	OMIM:114500
HP:0034335	Inheritance modifier	581	BAX	OMIM:613065
HP:0034335	Inheritance modifier	25788	RAD54B	OMIM:114500
HP:0034335	Inheritance modifier	595	CCND1	OMIM:114500
HP:0034335	Inheritance modifier	595	CCND1	OMIM:254500
HP:0034335	Inheritance modifier	699	BUB1	OMIM:114500
HP:0034335	Inheritance modifier	701	BUB1B	OMIM:114500
HP:0034335	Inheritance modifier	2261	FGFR3	OMIM:114500
HP:0034335	Inheritance modifier	2261	FGFR3	OMIM:603956
HP:0034335	Inheritance modifier	2261	FGFR3	OMIM:273300
HP:0034335	Inheritance modifier	2261	FGFR3	OMIM:109800
HP:0034335	Inheritance modifier	7097	TLR2	OMIM:114500
HP:0034335	Inheritance modifier	4893	NRAS	OMIM:114500
HP:0034335	Inheritance modifier	4893	NRAS	OMIM:137550
HP:0034335	Inheritance modifier	4893	NRAS	OMIM:614470
HP:0034335	Inheritance modifier	4893	NRAS	OMIM:188470
HP:0034335	Inheritance modifier	4893	NRAS	OMIM:249400
HP:0034335	Inheritance modifier	324	APC	OMIM:114500
HP:0034335	Inheritance modifier	324	APC	OMIM:613659
HP:0034335	Inheritance modifier	324	APC	OMIM:114550
HP:0034335	Inheritance modifier	7157	TP53	OMIM:114500
HP:0034335	Inheritance modifier	7157	TP53	OMIM:259500
HP:0034335	Inheritance modifier	7157	TP53	OMIM:260350
HP:0034335	Inheritance modifier	7157	TP53	OMIM:137800
HP:0034335	Inheritance modifier	7157	TP53	OMIM:114480
HP:0034335	Inheritance modifier	7157	TP53	OMIM:114550
HP:0034335	Inheritance modifier	4163	MCC	OMIM:114500
HP:0034335	Inheritance modifier	207	AKT1	OMIM:114500
HP:0034335	Inheritance modifier	207	AKT1	OMIM:167000
HP:0034335	Inheritance modifier	207	AKT1	OMIM:176920
HP:0034335	Inheritance modifier	207	AKT1	OMIM:114480
HP:0034335	Inheritance modifier	5157	PDGFRL	OMIM:114500
HP:0034335	Inheritance modifier	5157	PDGFRL	OMIM:114550
HP:0034335	Inheritance modifier	5795	PTPRJ	OMIM:114500
HP:0034335	Inheritance modifier	673	BRAF	OMIM:114500
HP:0034335	Inheritance modifier	673	BRAF	OMIM:211980
HP:0034335	Inheritance modifier	26511	CHIC2	OMIM:601626
HP:0034335	Inheritance modifier	3717	JAK2	OMIM:601626
HP:0034335	Inheritance modifier	3717	JAK2	OMIM:254450
HP:0034335	Inheritance modifier	3717	JAK2	OMIM:263300
HP:0034335	Inheritance modifier	3717	JAK2	OMIM:614521
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:601626
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:613659
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:108010
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:614470
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:260350
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:114480
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:211980
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:600268
HP:0034335	Inheritance modifier	3845	KRAS	OMIM:109800
HP:0034335	Inheritance modifier	8021	NUP214	OMIM:601626
HP:0034335	Inheritance modifier	8021	NUP214	OMIM:613065
HP:0034335	Inheritance modifier	2120	ETV6	OMIM:601626
HP:0034335	Inheritance modifier	1050	CEBPA	OMIM:601626
HP:0034335	Inheritance modifier	2624	GATA2	OMIM:601626
HP:0034335	Inheritance modifier	2624	GATA2	OMIM:614286
HP:0034335	Inheritance modifier	2322	FLT3	OMIM:601626
HP:0034335	Inheritance modifier	2322	FLT3	OMIM:613065
HP:0034335	Inheritance modifier	861	RUNX1	OMIM:601626
HP:0034335	Inheritance modifier	1788	DNMT3A	OMIM:601626
HP:0034335	Inheritance modifier	6455	SH3GL1	OMIM:601626
HP:0034335	Inheritance modifier	4869	NPM1	OMIM:601626
HP:0034335	Inheritance modifier	8028	MLLT10	OMIM:601626
HP:0034335	Inheritance modifier	3815	KIT	OMIM:601626
HP:0034335	Inheritance modifier	3815	KIT	OMIM:273300
HP:0034335	Inheritance modifier	8301	PICALM	OMIM:601626
HP:0034335	Inheritance modifier	4026	LPP	OMIM:601626
HP:0034335	Inheritance modifier	1385	CREB1	OMIM:612160
HP:0034335	Inheritance modifier	6208	RPS14	OMIM:153550
HP:0034335	Inheritance modifier	4609	MYC	OMIM:113970
HP:0034335	Inheritance modifier	115908	CTHRC1	OMIM:614266
HP:0034335	Inheritance modifier	4481	MSR1	OMIM:614266
HP:0034335	Inheritance modifier	51008	ASCC1	OMIM:614266
HP:0034335	Inheritance modifier	10019	SH2B3	OMIM:254450
HP:0034335	Inheritance modifier	811	CALR	OMIM:254450
HP:0034335	Inheritance modifier	4352	MPL	OMIM:254450
HP:0034335	Inheritance modifier	4352	MPL	OMIM:601977
HP:0034335	Inheritance modifier	51604	PIGT	OMIM:615399
HP:0034335	Inheritance modifier	999	CDH1	OMIM:167000
HP:0034335	Inheritance modifier	999	CDH1	OMIM:608089
HP:0034335	Inheritance modifier	999	CDH1	OMIM:176807
HP:0034335	Inheritance modifier	999	CDH1	OMIM:114480
HP:0034335	Inheritance modifier	5071	PRKN	OMIM:167000
HP:0034335	Inheritance modifier	5071	PRKN	OMIM:211980
HP:0034335	Inheritance modifier	4978	OPCML	OMIM:167000
HP:0034335	Inheritance modifier	2064	ERBB2	OMIM:167000
HP:0034335	Inheritance modifier	2064	ERBB2	OMIM:613659
HP:0034335	Inheritance modifier	2064	ERBB2	OMIM:137800
HP:0034335	Inheritance modifier	2064	ERBB2	OMIM:211980
HP:0034335	Inheritance modifier	2778	GNAS	OMIM:219080
HP:0034335	Inheritance modifier	79798	ARMC5	OMIM:615954
HP:0034335	Inheritance modifier	3553	IL1B	OMIM:613659
HP:0034335	Inheritance modifier	4595	MUTYH	OMIM:613659
HP:0034335	Inheritance modifier	3557	IL1RN	OMIM:613659
HP:0034335	Inheritance modifier	843	CASP10	OMIM:613659
HP:0034335	Inheritance modifier	3659	IRF1	OMIM:613659
HP:0034335	Inheritance modifier	3659	IRF1	OMIM:211980
HP:0034335	Inheritance modifier	1316	KLF6	OMIM:613659
HP:0034335	Inheritance modifier	1316	KLF6	OMIM:176807
HP:0034335	Inheritance modifier	2263	FGFR2	OMIM:613659
HP:0034335	Inheritance modifier	5156	PDGFRA	OMIM:607685
HP:0034335	Inheritance modifier	5925	RB1	OMIM:180200
HP:0034335	Inheritance modifier	5925	RB1	OMIM:259500
HP:0034335	Inheritance modifier	5925	RB1	OMIM:109800
HP:0034335	Inheritance modifier	9049	AIP	OMIM:102200
HP:0034335	Inheritance modifier	3569	IL6	OMIM:108010
HP:0034335	Inheritance modifier	5324	PLAG1	OMIM:181030
HP:0034335	Inheritance modifier	3265	HRAS	OMIM:137550
HP:0034335	Inheritance modifier	3265	HRAS	OMIM:188470
HP:0034335	Inheritance modifier	3265	HRAS	OMIM:109800
HP:0034335	Inheritance modifier	11178	LZTS1	OMIM:133239
HP:0034335	Inheritance modifier	51741	WWOX	OMIM:133239
HP:0034335	Inheritance modifier	6049	RNF6	OMIM:133239
HP:0034335	Inheritance modifier	7048	TGFBR2	OMIM:133239
HP:0034335	Inheritance modifier	91754	NEK9	OMIM:617025
HP:0034335	Inheritance modifier	2782	GNB1	OMIM:613065
HP:0034335	Inheritance modifier	2782	GNB1	OMIM:614286
HP:0034335	Inheritance modifier	4683	NBN	OMIM:613065
HP:0034335	Inheritance modifier	613	BCR	OMIM:613065
HP:0034335	Inheritance modifier	613	BCR	OMIM:608232
HP:0034335	Inheritance modifier	6886	TAL1	OMIM:613065
HP:0034335	Inheritance modifier	6887	TAL2	OMIM:613065
HP:0034335	Inheritance modifier	4926	NUMA1	OMIM:612376
HP:0034335	Inheritance modifier	5914	RARA	OMIM:612376
HP:0034335	Inheritance modifier	2130	EWSR1	OMIM:612219
HP:0034335	Inheritance modifier	4437	MSH3	OMIM:608089
HP:0034335	Inheritance modifier	6794	STK11	OMIM:273300
HP:0034335	Inheritance modifier	6794	STK11	OMIM:260350
HP:0034335	Inheritance modifier	8915	BCL10	OMIM:273300
HP:0034335	Inheritance modifier	8915	BCL10	OMIM:156240
HP:0034335	Inheritance modifier	7490	WT1	OMIM:156240
HP:0034335	Inheritance modifier	7490	WT1	OMIM:194080
HP:0034335	Inheritance modifier	7490	WT1	OMIM:136680
HP:0034335	Inheritance modifier	7490	WT1	OMIM:194072
HP:0034335	Inheritance modifier	7490	WT1	OMIM:194070
HP:0034335	Inheritance modifier	9759	HDAC4	OMIM:600430
HP:0034335	Inheritance modifier	7030	TFE3	OMIM:300854
HP:0034335	Inheritance modifier	463	ZFHX3	OMIM:176807
HP:0034335	Inheritance modifier	367	AR	OMIM:176807
HP:0034335	Inheritance modifier	4601	MXI1	OMIM:176807
HP:0034335	Inheritance modifier	8379	MAD1L1	OMIM:176807
HP:0034335	Inheritance modifier	4089	SMAD4	OMIM:260350
HP:0034335	Inheritance modifier	23451	SF3B1	OMIM:614286
HP:0034335	Inheritance modifier	54790	TET2	OMIM:614286
HP:0034335	Inheritance modifier	171023	ASXL1	OMIM:614286
HP:0034335	Inheritance modifier	3417	IDH1	OMIM:137800
HP:0034335	Inheritance modifier	6757	SSX2	OMIM:300813
HP:0034335	Inheritance modifier	57522	SRGAP1	OMIM:188470
HP:0034335	Inheritance modifier	9562	MINPP1	OMIM:188470
HP:0034335	Inheritance modifier	83990	BRIP1	OMIM:114480
HP:0034335	Inheritance modifier	5002	SLC22A18	OMIM:114480
HP:0034335	Inheritance modifier	5002	SLC22A18	OMIM:211980
HP:0034335	Inheritance modifier	4835	NQO2	OMIM:114480
HP:0034335	Inheritance modifier	5245	PHB1	OMIM:114480
HP:0034335	Inheritance modifier	3161	HMMR	OMIM:114480
HP:0034335	Inheritance modifier	580	BARD1	OMIM:114480
HP:0034335	Inheritance modifier	672	BRCA1	OMIM:114480
HP:0034335	Inheritance modifier	472	ATM	OMIM:114480
HP:0034335	Inheritance modifier	8493	PPM1D	OMIM:114480
HP:0034335	Inheritance modifier	79728	PALB2	OMIM:114480
HP:0034335	Inheritance modifier	7517	XRCC3	OMIM:114480
HP:0034335	Inheritance modifier	9821	RB1CC1	OMIM:114480
HP:0034335	Inheritance modifier	2099	ESR1	OMIM:114480
HP:0034335	Inheritance modifier	841	CASP8	OMIM:114480
HP:0034335	Inheritance modifier	841	CASP8	OMIM:211980
HP:0034335	Inheritance modifier	841	CASP8	OMIM:114550
HP:0034335	Inheritance modifier	8438	RAD54L	OMIM:114480
HP:0034335	Inheritance modifier	2131	EXT1	OMIM:215300
HP:0034335	Inheritance modifier	2074	ERCC6	OMIM:211980
HP:0034335	Inheritance modifier	1956	EGFR	OMIM:211980
HP:0034335	Inheritance modifier	1548	CYP2A6	OMIM:211980
HP:0034335	Inheritance modifier	356	FASLG	OMIM:211980
HP:0034335	Inheritance modifier	5519	PPP2R1B	OMIM:211980
HP:0034335	Inheritance modifier	1326	MAP3K8	OMIM:211980
HP:0034335	Inheritance modifier	4763	NF1	OMIM:607785
HP:0034335	Inheritance modifier	23092	ARHGAP26	OMIM:607785
HP:0034335	Inheritance modifier	867	CBL	OMIM:607785
HP:0034335	Inheritance modifier	5781	PTPN11	OMIM:607785
HP:0034335	Inheritance modifier	25	ABL1	OMIM:608232
HP:0034335	Inheritance modifier	7248	TSC1	OMIM:606690
HP:0034335	Inheritance modifier	7248	TSC1	OMIM:607341
HP:0034335	Inheritance modifier	7249	TSC2	OMIM:606690
HP:0034335	Inheritance modifier	7249	TSC2	OMIM:607341
HP:0034335	Inheritance modifier	2475	MTOR	OMIM:607341
HP:0034335	Inheritance modifier	5081	PAX7	OMIM:268220
HP:0034335	Inheritance modifier	2308	FOXO1	OMIM:268220
HP:0034335	Inheritance modifier	5077	PAX3	OMIM:268220
HP:0034335	Inheritance modifier	29071	C1GALT1C1	OMIM:300622
HP:0034335	Inheritance modifier	8312	AXIN1	OMIM:114550
HP:0034335	Inheritance modifier	3482	IGF2R	OMIM:114550
HP:0034335	Inheritance modifier	4615	MYD88	OMIM:153600
HP:0034335	Inheritance modifier	5277	PIGA	OMIM:300818
HP:0034335	Inheritance modifier	8148	TAF15	OMIM:612237
HP:0034335	Inheritance modifier	8013	NR4A3	OMIM:612237
HP:0034335	Inheritance modifier	79058	ASPSCR1	OMIM:606243
HP:0034335	Inheritance modifier	5080	PAX6	OMIM:194072
HP:0034335	Inheritance modifier	3981	LIG4	OMIM:254500
HP:0034335	Inheritance modifier	79577	CDC73	OMIM:608266
HP:0034335	Inheritance modifier	2719	GPC3	OMIM:194070
HP:0034335	Inheritance modifier	2239	GPC4	OMIM:194070
HP:0034335	Inheritance modifier	3481	IGF2	OMIM:194070
HP:0034335	Inheritance modifier	283120	H19	OMIM:194070
HP:0034335	Inheritance modifier	7317	UBA1	OMIM:301054
HP:0034335	Inheritance modifier	284058	KANSL1	OMIM:610443
HP:0034335	Inheritance modifier	344018	FIGLA	OMIM:612310
HP:0034335	Inheritance modifier	3973	LHCGR	OMIM:176410
HP:0034335	Inheritance modifier	2516	NR5A1	OMIM:612964
HP:0034335	Inheritance modifier	2516	NR5A1	OMIM:612965
HP:0034335	Inheritance modifier	4287	ATXN3	OMIM:109150
HP:0034335	Inheritance modifier	6683	SPAST	OMIM:182601
HP:0034335	Inheritance modifier	6311	ATXN2	OMIM:183090
HP:0034335	Inheritance modifier	6310	ATXN1	OMIM:164400
HP:0034335	Inheritance modifier	6314	ATXN7	OMIM:164500
HP:0034335	Inheritance modifier	26121	PRPF31	OMIM:600138
HP:0034335	Inheritance modifier	57468	SLC12A5	OMIM:616685
HP:0034335	Inheritance modifier	2138	EYA1	OMIM:113650
HP:0034335	Inheritance modifier	2138	EYA1	OMIM:602588
HP:0034335	Inheritance modifier	6495	SIX1	OMIM:113650
HP:0034335	Inheritance modifier	6390	SDHB	OMIM:115310
HP:0034335	Inheritance modifier	128674	PROKR2	OMIM:244200
HP:0034335	Inheritance modifier	25913	POT1	OMIM:616568
HP:0034335	Inheritance modifier	25913	POT1	OMIM:615848
HP:0034335	Inheritance modifier	51621	KLF13	OMIM:612001
HP:0034335	Inheritance modifier	1139	CHRNA7	OMIM:612001
HP:0034335	Inheritance modifier	59341	TRPV4	OMIM:606071
HP:0034335	Inheritance modifier	59341	TRPV4	OMIM:600175
HP:0034335	Inheritance modifier	59341	TRPV4	OMIM:181405
HP:0034335	Inheritance modifier	9698	PUM1	OMIM:617931
HP:0034335	Inheritance modifier	2260	FGFR1	OMIM:147950
HP:0034335	Inheritance modifier	6513	SLC2A1	OMIM:612126
HP:0034335	Inheritance modifier	6513	SLC2A1	OMIM:614847
HP:0034335	Inheritance modifier	785	CACNB4	OMIM:613855
HP:0034335	Inheritance modifier	203547	VMA21	OMIM:310440
HP:0034335	Inheritance modifier	2566	GABRG2	OMIM:607681
HP:0034335	Inheritance modifier	773	CACNA1A	OMIM:108500
HP:0034335	Inheritance modifier	478	ATP1A3	OMIM:128235
HP:0034335	Inheritance modifier	60675	PROK2	OMIM:610628
HP:0034335	Inheritance modifier	1743	DLST	OMIM:618475
HP:0034335	Inheritance modifier	25814	ATXN10	OMIM:603516
HP:0034335	Inheritance modifier	6096	RORB	OMIM:618357
HP:0034335	Inheritance modifier	2050	EPHB4	OMIM:618196
HP:0034335	Inheritance modifier	4771	NF2	OMIM:162091
HP:0034335	Inheritance modifier	4771	NF2	OMIM:607174
HP:0034335	Inheritance modifier	6598	SMARCB1	OMIM:162091
HP:0034335	Inheritance modifier	201163	FLCN	OMIM:173600
HP:0034335	Inheritance modifier	55765	INAVA	OMIM:618077
HP:0034335	Inheritance modifier	64072	CDH23	OMIM:617540
HP:0034335	Inheritance modifier	23095	KIF1B	OMIM:256700
HP:0034335	Inheritance modifier	1135	CHRNA2	OMIM:610353
HP:0034335	Inheritance modifier	26011	TENM4	OMIM:616736
HP:0034335	Inheritance modifier	90678	LRSAM1	OMIM:614436
HP:0034335	Inheritance modifier	55997	CFC1	OMIM:605376
HP:0034335	Inheritance modifier	78987	CRELD1	OMIM:606217
HP:0034335	Inheritance modifier	7480	WNT10B	OMIM:225300
HP:0034335	Inheritance modifier	889	KRIT1	OMIM:116860
HP:0034335	Inheritance modifier	1137	CHRNA4	OMIM:600513
HP:0034335	Inheritance modifier	348980	HCN1	OMIM:618482
HP:0034335	Inheritance modifier	1493	CTLA4	OMIM:616100
HP:0034335	Inheritance modifier	4901	NRL	OMIM:613750
HP:0034335	Inheritance modifier	2562	GABRB3	OMIM:612269
HP:0034335	Inheritance modifier	5582	PRKCG	OMIM:605361
HP:0034335	Inheritance modifier	25778	DSTYK	OMIM:610805
HP:0034335	Inheritance modifier	1181	CLCN2	OMIM:605635
HP:0034335	Inheritance modifier	6469	SHH	OMIM:142945
HP:0034335	Inheritance modifier	6469	SHH	OMIM:611638
HP:0034335	Inheritance modifier	1641	DCX	OMIM:300067
HP:0034335	Inheritance modifier	57165	GJC2	OMIM:613480
HP:0034335	Inheritance modifier	9757	KMT2B	OMIM:617284
HP:0034335	Inheritance modifier	659	BMPR2	OMIM:178600
HP:0034335	Inheritance modifier	51428	DDX41	OMIM:616871
HP:0034335	Inheritance modifier	2705	GJB1	OMIM:302800
HP:0034335	Inheritance modifier	2332	FMR1	OMIM:300624
HP:0034335	Inheritance modifier	7098	TLR3	OMIM:613002
HP:0034335	Inheritance modifier	10320	IKZF1	OMIM:616873
HP:0034335	Inheritance modifier	148022	TICAM1	OMIM:614850
HP:0034335	Inheritance modifier	90268	OTULIN	OMIM:619986
HP:0034335	Inheritance modifier	7345	UCHL1	OMIM:613643
HP:0034335	Inheritance modifier	112476	PRRT2	OMIM:605751
HP:0034335	Inheritance modifier	112476	PRRT2	OMIM:128200
HP:0034335	Inheritance modifier	4233	MET	OMIM:605074
HP:0034335	Inheritance modifier	5546	PRCC	OMIM:605074
HP:0034335	Inheritance modifier	477	ATP1A2	OMIM:602481
HP:0034335	Inheritance modifier	10594	PRPF8	OMIM:600059
HP:0034335	Inheritance modifier	7273	TTN	OMIM:600334
HP:0034335	Inheritance modifier	5311	PKD2	OMIM:613095
HP:0034335	Inheritance modifier	7450	VWF	OMIM:193400
HP:0034335	Inheritance modifier	23432	GPR161	OMIM:155255
HP:0034335	Inheritance modifier	51684	SUFU	OMIM:155255
HP:0034335	Inheritance modifier	51684	SUFU	OMIM:607174
HP:0034335	Inheritance modifier	8518	ELP1	OMIM:155255
HP:0034335	Inheritance modifier	8643	PTCH2	OMIM:155255
HP:0034335	Inheritance modifier	675	BRCA2	OMIM:155255
HP:0034335	Inheritance modifier	1499	CTNNB1	OMIM:155255
HP:0034335	Inheritance modifier	2903	GRIN2A	OMIM:245570
HP:0034335	Inheritance modifier	63982	ANO3	OMIM:615034
HP:0034335	Inheritance modifier	6329	SCN4A	OMIM:170400
HP:0034335	Inheritance modifier	779	CACNA1S	OMIM:170400
HP:0034335	Inheritance modifier	5076	PAX2	OMIM:616002
HP:0034335	Inheritance modifier	8216	LZTR1	OMIM:615670
HP:0034335	Inheritance modifier	7015	TERT	OMIM:614742
HP:0034335	Inheritance modifier	79853	TM4SF20	OMIM:615432
HP:0034335	Inheritance modifier	9927	MFN2	OMIM:609260
HP:0034335	Inheritance modifier	84196	USP48	OMIM:620227
HP:0034335	Inheritance modifier	7012	TERC	OMIM:614743
HP:0034335	Inheritance modifier	1282	COL4A1	OMIM:175780
HP:0034335	Inheritance modifier	5888	RAD51	OMIM:614508
HP:0034335	Inheritance modifier	2065	ERBB3	OMIM:133180
HP:0034335	Inheritance modifier	4976	OPA1	OMIM:165500
HP:0034335	Inheritance modifier	5727	PTCH1	OMIM:610828
HP:0034335	Inheritance modifier	2736	GLI2	OMIM:610829
HP:0034335	Inheritance modifier	2736	GLI2	OMIM:615849
HP:0034335	Inheritance modifier	8204	NRIP1	OMIM:618270
HP:0034335	Inheritance modifier	81	ACTN4	OMIM:603278
HP:0034335	Inheritance modifier	51750	RTEL1	OMIM:616373
HP:0034335	Inheritance modifier	5073	PARN	OMIM:616371
HP:0034335	Inheritance modifier	2956	MSH6	OMIM:614350
HP:0034335	Inheritance modifier	55145	THAP1	OMIM:602629
HP:0034335	Inheritance modifier	2301	FOXE3	OMIM:617349
HP:0034335	Inheritance modifier	64135	IFIH1	OMIM:615846
HP:0034335	Inheritance modifier	182	JAG1	OMIM:118450
HP:0034335	Inheritance modifier	91662	NLRP12	OMIM:611762
HP:0034335	Inheritance modifier	29110	TBK1	OMIM:617900
HP:0034335	Inheritance modifier	9681	DEPDC5	OMIM:604364
HP:0034335	Inheritance modifier	10137	RBM12	OMIM:617629
HP:0034335	Inheritance modifier	6785	ELOVL4	OMIM:133190
HP:0034335	Inheritance modifier	1749	DLX5	OMIM:183600
HP:0034335	Inheritance modifier	1284	COL4A2	OMIM:614483
HP:0034335	Inheritance modifier	8131	NPRL3	OMIM:617118
HP:0034335	Inheritance modifier	120892	LRRK2	OMIM:607060
HP:0034335	Inheritance modifier	4041	LRP5	OMIM:617875
HP:0034335	Inheritance modifier	10641	NPRL2	OMIM:617116
HP:0034335	Inheritance modifier	140628	GATA5	OMIM:617912
HP:0034335	Inheritance modifier	256472	TMEM151A	OMIM:620245
HP:0034335	Inheritance modifier	51062	ATL1	OMIM:182600
HP:0034335	Inheritance modifier	3110	MNX1	OMIM:176450
HP:0034335	Inheritance modifier	6324	SCN1B	OMIM:604233
HP:0034335	Inheritance modifier	1371	CPOX	OMIM:121300
HP:0034335	Inheritance modifier	6599	SMARCC1	OMIM:620241
HP:0034335	Inheritance modifier	6496	SIX3	OMIM:157170
HP:0034335	Inheritance modifier	5903	RANBP2	OMIM:608033
HP:0034335	Inheritance modifier	1630	DCC	OMIM:157600
HP:0034335	Inheritance modifier	5307	PITX1	OMIM:119800
HP:0034335	Inheritance modifier	4093	SMAD9	OMIM:615342
HP:0034335	Inheritance modifier	3832	KIF11	OMIM:152950
HP:0034335	Inheritance modifier	857	CAV1	OMIM:615343
HP:0034335	Inheritance modifier	6772	STAT1	OMIM:614892
HP:0034335	Inheritance modifier	8910	SGCE	OMIM:159900
HP:0034335	Inheritance modifier	5649	RELN	OMIM:616436
HP:0034335	Inheritance modifier	3798	KIF5A	OMIM:617921
HP:0034335	Inheritance modifier	2702	GJA5	OMIM:612474
HP:0034335	Inheritance modifier	2703	GJA8	OMIM:612474
HP:0034335	Inheritance modifier	2271	FH	OMIM:150800
HP:0034335	Inheritance modifier	22858	CILK1	OMIM:617924
HP:0034335	Inheritance modifier	8074	FGF23	OMIM:193100
HP:0034335	Inheritance modifier	4514	MT-CO3	OMIM:535000
HP:0034335	Inheritance modifier	4519	MT-CYB	OMIM:535000
HP:0034335	Inheritance modifier	4541	MT-ND6	OMIM:535000
HP:0034335	Inheritance modifier	4540	MT-ND5	OMIM:535000
HP:0034335	Inheritance modifier	4508	MT-ATP6	OMIM:535000
HP:0034335	Inheritance modifier	4539	MT-ND4L	OMIM:535000
HP:0034335	Inheritance modifier	4535	MT-ND1	OMIM:535000
HP:0034335	Inheritance modifier	4536	MT-ND2	OMIM:535000
HP:0034335	Inheritance modifier	4538	MT-ND4	OMIM:535000
HP:0034335	Inheritance modifier	80000	GREB1L	OMIM:617805
HP:0034335	Inheritance modifier	1861	TOR1A	OMIM:128100
HP:0034335	Inheritance modifier	9987	HNRNPDL	OMIM:609115
HP:0034335	Inheritance modifier	6235	RPS29	OMIM:615909
HP:0034335	Inheritance modifier	4330	MN1	OMIM:607174
HP:0034335	Inheritance modifier	6605	SMARCE1	OMIM:607174
HP:0034335	Inheritance modifier	5728	PTEN	OMIM:607174
HP:0034335	Inheritance modifier	5155	PDGFB	OMIM:607174
HP:0034335	Inheritance modifier	3000	GUCY2D	OMIM:601777
HP:0034335	Inheritance modifier	22873	DZIP1	OMIM:610840
HP:0034335	Inheritance modifier	8642	DCHS1	OMIM:607829
HP:0034335	Inheritance modifier	7681	MKRN3	OMIM:615346
HP:0034335	Inheritance modifier	23189	KANK1	OMIM:612900
HP:0034335	Inheritance modifier	5296	PIK3R2	OMIM:603387
HP:0034335	Inheritance modifier	23250	ATP11A	OMIM:619851
HP:0034335	Inheritance modifier	5594	MAPK1	OMIM:619087
HP:0034335	Inheritance modifier	1822	ATN1	OMIM:618494
HP:0034335	Inheritance modifier	57680	CHD8	OMIM:615032
HP:0034335	Inheritance modifier	10501	SEMA6B	OMIM:618876
HP:0034335	Inheritance modifier	2783	GNB2	OMIM:619503
HP:0034335	Inheritance modifier	58508	KMT2C	OMIM:617768
HP:0034335	Inheritance modifier	27102	EIF2AK1	OMIM:618878
HP:0034335	Inheritance modifier	5290	PIK3CA	OMIM:619538
HP:0034335	Inheritance modifier	5430	POLR2A	OMIM:618603
HP:0034335	Inheritance modifier	51341	ZBTB7A	OMIM:619769
HP:0034335	Inheritance modifier	6716	SRD5A2	OMIM:264600
HP:0034335	Inheritance modifier	79983	POF1B	OMIM:300604
HP:0034335	Inheritance modifier	4091	SMAD6	OMIM:614823
HP:0034336	Splenic infarction	3043	HBB	OMIM:603903
HP:0034337	Claw hand deformity	64423	INF2	OMIM:614455
HP:0034337	Claw hand deformity	10280	SIGMAR1	OMIM:605726
HP:0034337	Claw hand deformity	10397	NDRG1	OMIM:601455
HP:0034337	Claw hand deformity	3315	HSPB1	OMIM:606595
HP:0034337	Claw hand deformity	8566	PDXK	OMIM:618511
HP:0034337	Claw hand deformity	3098	HK1	OMIM:605285
HP:0034338	Imprinted	7681	MKRN3	OMIM:615346
HP:0034338	Imprinted	23189	KANK1	OMIM:612900
HP:0008482	Asymmetry of spinal facet joints	57216	VANGL2	OMIM:182940
HP:0008482	Asymmetry of spinal facet joints	6347	CCL2	OMIM:182940
HP:0008482	Asymmetry of spinal facet joints	81839	VANGL1	OMIM:182940
HP:0008482	Asymmetry of spinal facet joints	6862	TBXT	OMIM:182940
HP:0008482	Asymmetry of spinal facet joints	80199	FUZ	OMIM:182940
HP:0008484	Thoracolumbar interpediculate narrowness	4882	NPR2	OMIM:602875
HP:0008486	Lumbar interpedicular narrowing	4796	TONSL	OMIM:271510
HP:0008488	Anterior rounding of vertebral bodies	6913	TBX15	OMIM:260660
HP:0031889	Abnormal VLDL cholesterol concentration	116519	APOA5	OMIM:145750
HP:0031889	Abnormal VLDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031889	Abnormal VLDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031889	Abnormal VLDL cholesterol concentration	197131	UBR1	OMIM:243800
HP:0031889	Abnormal VLDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0031882	Agyria	7846	TUBA1A	ORPHA:171680
HP:0031882	Agyria	7846	TUBA1A	ORPHA:467166
HP:0031882	Agyria	7846	TUBA1A	OMIM:611603
HP:0031882	Agyria	347733	TUBB2B	ORPHA:467166
HP:0031882	Agyria	10381	TUBB3	ORPHA:467166
HP:0031882	Agyria	1641	DCX	OMIM:300067
HP:0031882	Agyria	1641	DCX	ORPHA:2148
HP:0031882	Agyria	387119	CEP85L	OMIM:618873
HP:0031882	Agyria	1020	CDK5	OMIM:616342
HP:0031882	Agyria	160418	TMTC3	OMIM:617255
HP:0031882	Agyria	79147	FKRP	OMIM:613153
HP:0031882	Agyria	79147	FKRP	OMIM:236670
HP:0031882	Agyria	7283	TUBG1	OMIM:615412
HP:0031882	Agyria	729920	CRPPA	OMIM:614643
HP:0031882	Agyria	3796	KIF2A	OMIM:615411
HP:0031882	Agyria	1605	DAG1	OMIM:616538
HP:0031882	Agyria	1605	DAG1	ORPHA:370997
HP:0031882	Agyria	84197	POMK	OMIM:615249
HP:0031882	Agyria	5048	PAFAH1B1	OMIM:607432
HP:0031882	Agyria	5048	PAFAH1B1	ORPHA:95232
HP:0031882	Agyria	2218	FKTN	OMIM:253800
HP:0031882	Agyria	2218	FKTN	OMIM:236670
HP:0031882	Agyria	29954	POMT2	OMIM:236670
HP:0031882	Agyria	9215	LARGE1	OMIM:236670
HP:0031882	Agyria	10585	POMT1	OMIM:236670
HP:0031883	Increased proinsulin:insulin ratio	7490	WT1	OMIM:106210
HP:0031883	Increased proinsulin:insulin ratio	5080	PAX6	OMIM:106210
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:612126
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:606777
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:608885
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	ORPHA:168577
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	ORPHA:71277
HP:0031884	Abnormal CSF glucose concentration	7187	TRAF3	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	81622	UNC93B1	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	148022	TICAM1	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	7098	TLR3	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	29110	TBK1	ORPHA:1930
HP:0031886	Abnormal LDL cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	3949	LDLR	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	255738	PCSK9	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0031886	Abnormal LDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0031886	Abnormal LDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0031886	Abnormal LDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0031886	Abnormal LDL cholesterol concentration	213	ALB	OMIM:616000
HP:0031886	Abnormal LDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0031886	Abnormal LDL cholesterol concentration	336	APOA2	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	2690	GHR	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0031886	Abnormal LDL cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0031886	Abnormal LDL cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0031886	Abnormal LDL cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0031886	Abnormal LDL cholesterol concentration	2010	EMD	ORPHA:98863
HP:0031886	Abnormal LDL cholesterol concentration	20	ABCA2	OMIM:618808
HP:0031886	Abnormal LDL cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0031886	Abnormal LDL cholesterol concentration	4040	LRP6	OMIM:610947
HP:0031886	Abnormal LDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	OMIM:616516
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	ORPHA:98855
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0031886	Abnormal LDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0031886	Abnormal LDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0031886	Abnormal LDL cholesterol concentration	7274	TTPA	OMIM:277460
HP:0031886	Abnormal LDL cholesterol concentration	348	APOE	ORPHA:412
HP:0031886	Abnormal LDL cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0031886	Abnormal LDL cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0031886	Abnormal LDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0031886	Abnormal LDL cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0031886	Abnormal LDL cholesterol concentration	26119	LDLRAP1	OMIM:603813
HP:0031886	Abnormal LDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031886	Abnormal LDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0031886	Abnormal LDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0031886	Abnormal LDL cholesterol concentration	338	APOB	OMIM:615558
HP:0031886	Abnormal LDL cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0031886	Abnormal LDL cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0031886	Abnormal LDL cholesterol concentration	80025	PANK2	OMIM:607236
HP:0031886	Abnormal LDL cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0031886	Abnormal LDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0031887	Abnormal chylomicron concentration	344	APOC2	OMIM:207750
HP:0031887	Abnormal chylomicron concentration	116519	APOA5	OMIM:144650
HP:0031887	Abnormal chylomicron concentration	338328	GPIHBP1	OMIM:615947
HP:0031887	Abnormal chylomicron concentration	4023	LPL	OMIM:238600
HP:0031888	Abnormal HDL cholesterol concentration	4000	LMNA	ORPHA:280365
HP:0031888	Abnormal HDL cholesterol concentration	4000	LMNA	OMIM:151660
HP:0031888	Abnormal HDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0031888	Abnormal HDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0031888	Abnormal HDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0031888	Abnormal HDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0031888	Abnormal HDL cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	OMIM:618463
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	OMIM:619836
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	ORPHA:425
HP:0031888	Abnormal HDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	OMIM:604091
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	OMIM:205400
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	ORPHA:425
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	ORPHA:247585
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	OMIM:605814
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0031888	Abnormal HDL cholesterol concentration	338	APOB	OMIM:615558
HP:0031888	Abnormal HDL cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0031888	Abnormal HDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	OMIM:245900
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	ORPHA:79292
HP:0031888	Abnormal HDL cholesterol concentration	5468	PPARG	OMIM:604367
HP:0031888	Abnormal HDL cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0031888	Abnormal HDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031888	Abnormal HDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0031888	Abnormal HDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0031888	Abnormal HDL cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0031888	Abnormal HDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0031888	Abnormal HDL cholesterol concentration	348	APOE	ORPHA:412
HP:0031888	Abnormal HDL cholesterol concentration	3990	LIPC	OMIM:614025
HP:0031888	Abnormal HDL cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0031888	Abnormal HDL cholesterol concentration	1071	CETP	ORPHA:79506
HP:0031888	Abnormal HDL cholesterol concentration	1071	CETP	OMIM:143470
HP:0031888	Abnormal HDL cholesterol concentration	345	APOC3	ORPHA:79506
HP:0031888	Abnormal HDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0031891	Decreased eosinophil count	84196	USP48	ORPHA:96253
HP:0031891	Decreased eosinophil count	7157	TP53	ORPHA:96253
HP:0031891	Decreased eosinophil count	9101	USP8	ORPHA:96253
HP:0031891	Decreased eosinophil count	64072	CDH23	ORPHA:96253
HP:0031891	Decreased eosinophil count	2908	NR3C1	ORPHA:96253
HP:0031891	Decreased eosinophil count	673	BRAF	ORPHA:96253
HP:0031891	Decreased eosinophil count	546	ATRX	ORPHA:96253
HP:0031891	Decreased eosinophil count	29775	CARD10	OMIM:619632
HP:0031891	Decreased eosinophil count	1991	ELANE	ORPHA:2686
HP:0034344	Female-limited expression	79983	POF1B	OMIM:300604
HP:0034345	Mendelian inheritance	3858	KRT10	OMIM:607602
HP:0034345	Mendelian inheritance	3858	KRT10	OMIM:609165
HP:0034345	Mendelian inheritance	3858	KRT10	OMIM:146600
HP:0034345	Mendelian inheritance	25913	POT1	OMIM:616568
HP:0034345	Mendelian inheritance	25913	POT1	OMIM:615848
HP:0034345	Mendelian inheritance	55240	STEAP3	OMIM:615234
HP:0034345	Mendelian inheritance	3910	LAMA4	OMIM:615235
HP:0034345	Mendelian inheritance	5781	PTPN11	OMIM:156250
HP:0034345	Mendelian inheritance	5781	PTPN11	OMIM:151100
HP:0034345	Mendelian inheritance	5781	PTPN11	OMIM:607785
HP:0034345	Mendelian inheritance	5781	PTPN11	OMIM:163950
HP:0034345	Mendelian inheritance	149775	GNAS-AS1	OMIM:603233
HP:0034345	Mendelian inheritance	8675	STX16	OMIM:603233
HP:0034345	Mendelian inheritance	2778	GNAS	OMIM:603233
HP:0034345	Mendelian inheritance	2778	GNAS	OMIM:166350
HP:0034345	Mendelian inheritance	2778	GNAS	OMIM:612463
HP:0034345	Mendelian inheritance	2778	GNAS	OMIM:612462
HP:0034345	Mendelian inheritance	2778	GNAS	OMIM:103580
HP:0034345	Mendelian inheritance	1421	CRYGD	OMIM:115700
HP:0034345	Mendelian inheritance	201163	FLCN	OMIM:173600
HP:0034345	Mendelian inheritance	201163	FLCN	OMIM:114500
HP:0034345	Mendelian inheritance	201163	FLCN	OMIM:135150
HP:0034345	Mendelian inheritance	283489	CHAMP1	OMIM:616579
HP:0034345	Mendelian inheritance	478	ATP1A3	OMIM:619606
HP:0034345	Mendelian inheritance	478	ATP1A3	OMIM:128235
HP:0034345	Mendelian inheritance	478	ATP1A3	OMIM:601338
HP:0034345	Mendelian inheritance	478	ATP1A3	OMIM:614820
HP:0034345	Mendelian inheritance	4790	NFKB1	OMIM:616576
HP:0034345	Mendelian inheritance	54795	TRPM4	OMIM:604559
HP:0034345	Mendelian inheritance	54795	TRPM4	OMIM:618531
HP:0034345	Mendelian inheritance	3190	HNRNPK	OMIM:616580
HP:0034345	Mendelian inheritance	653509	SFTPA1	OMIM:619611
HP:0034345	Mendelian inheritance	4089	SMAD4	OMIM:174900
HP:0034345	Mendelian inheritance	4089	SMAD4	OMIM:139210
HP:0034345	Mendelian inheritance	4089	SMAD4	OMIM:260350
HP:0034345	Mendelian inheritance	4089	SMAD4	OMIM:175050
HP:0034345	Mendelian inheritance	657	BMPR1A	OMIM:174900
HP:0034345	Mendelian inheritance	657	BMPR1A	OMIM:610069
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:616583
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:608805
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:184255
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:184250
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:132450
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:609162
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:183900
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:619248
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:604864
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:156550
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:151210
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:200610
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:150600
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:271700
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:108300
HP:0034345	Mendelian inheritance	1280	COL2A1	OMIM:609508
HP:0034345	Mendelian inheritance	54567	DLL4	OMIM:616589
HP:0034345	Mendelian inheritance	55366	LGR4	OMIM:619613
HP:0034345	Mendelian inheritance	5621	PRNP	OMIM:603218
HP:0034345	Mendelian inheritance	5621	PRNP	OMIM:600072
HP:0034345	Mendelian inheritance	5621	PRNP	OMIM:123400
HP:0034345	Mendelian inheritance	5621	PRNP	OMIM:606688
HP:0034345	Mendelian inheritance	5621	PRNP	OMIM:137440
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:136680
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:608978
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:256370
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:106210
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:194080
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:194072
HP:0034345	Mendelian inheritance	7490	WT1	OMIM:194070
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:616592
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:615007
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:228550
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:213600
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:601812
HP:0034345	Mendelian inheritance	5159	PDGFRB	OMIM:131440
HP:0034345	Mendelian inheritance	10347	ABCA7	OMIM:608907
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:600175
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:184252
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:181405
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:168400
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:606835
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:606071
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:113500
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:156530
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:617383
HP:0034345	Mendelian inheritance	59341	TRPV4	OMIM:184095
HP:0034345	Mendelian inheritance	23767	FLRT3	OMIM:615271
HP:0034345	Mendelian inheritance	4284	MIP	OMIM:615274
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:615278
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:114480
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:109800
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:609942
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:614470
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:211980
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:260350
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:600268
HP:0034345	Mendelian inheritance	3845	KRAS	OMIM:601626
HP:0034345	Mendelian inheritance	5604	MAP2K1	OMIM:615279
HP:0034345	Mendelian inheritance	5604	MAP2K1	OMIM:163950
HP:0034345	Mendelian inheritance	79719	AAGAB	OMIM:148600
HP:0034345	Mendelian inheritance	1311	COMP	OMIM:177170
HP:0034345	Mendelian inheritance	1311	COMP	OMIM:132400
HP:0034345	Mendelian inheritance	1311	COMP	OMIM:619161
HP:0034345	Mendelian inheritance	5605	MAP2K2	OMIM:615280
HP:0034345	Mendelian inheritance	6141	RPL18	OMIM:618310
HP:0034345	Mendelian inheritance	11224	RPL35	OMIM:618312
HP:0034345	Mendelian inheritance	3800	KIF5C	OMIM:615282
HP:0034345	Mendelian inheritance	6210	RPS15A	OMIM:618313
HP:0034345	Mendelian inheritance	476	ATP1A1	OMIM:618314
HP:0034345	Mendelian inheritance	476	ATP1A1	OMIM:618036
HP:0034345	Mendelian inheritance	11155	LDB3	OMIM:601493
HP:0034345	Mendelian inheritance	11155	LDB3	OMIM:609452
HP:0034345	Mendelian inheritance	7139	TNNT2	OMIM:601494
HP:0034345	Mendelian inheritance	7139	TNNT2	OMIM:115195
HP:0034345	Mendelian inheritance	7139	TNNT2	OMIM:612422
HP:0034345	Mendelian inheritance	57609	DIP2B	OMIM:136630
HP:0034345	Mendelian inheritance	6654	SOS1	OMIM:135300
HP:0034345	Mendelian inheritance	6654	SOS1	OMIM:610733
HP:0034345	Mendelian inheritance	23299	BICD2	OMIM:615290
HP:0034345	Mendelian inheritance	23299	BICD2	OMIM:618291
HP:0034345	Mendelian inheritance	4854	NOTCH3	OMIM:615293
HP:0034345	Mendelian inheritance	4854	NOTCH3	OMIM:125310
HP:0034345	Mendelian inheritance	4854	NOTCH3	OMIM:130720
HP:0034345	Mendelian inheritance	859	CAV3	OMIM:123320
HP:0034345	Mendelian inheritance	859	CAV3	OMIM:192600
HP:0034345	Mendelian inheritance	859	CAV3	OMIM:606072
HP:0034345	Mendelian inheritance	859	CAV3	OMIM:614321
HP:0034345	Mendelian inheritance	859	CAV3	OMIM:611818
HP:0034345	Mendelian inheritance	23499	MACF1	OMIM:618325
HP:0034345	Mendelian inheritance	81839	VANGL1	OMIM:600145
HP:0034345	Mendelian inheritance	81839	VANGL1	OMIM:182940
HP:0034345	Mendelian inheritance	1387	CREBBP	OMIM:618332
HP:0034345	Mendelian inheritance	1387	CREBBP	OMIM:180849
HP:0034345	Mendelian inheritance	2033	EP300	OMIM:618333
HP:0034345	Mendelian inheritance	2033	EP300	OMIM:114500
HP:0034345	Mendelian inheritance	2033	EP300	OMIM:180849
HP:0034345	Mendelian inheritance	2033	EP300	OMIM:613684
HP:0034345	Mendelian inheritance	11231	SEC63	OMIM:617004
HP:0034345	Mendelian inheritance	1523	CUX1	OMIM:618330
HP:0034345	Mendelian inheritance	58495	OVOL2	OMIM:122000
HP:0034345	Mendelian inheritance	2617	GARS1	OMIM:601472
HP:0034345	Mendelian inheritance	2617	GARS1	OMIM:600794
HP:0034345	Mendelian inheritance	2617	GARS1	OMIM:619042
HP:0034345	Mendelian inheritance	26121	PRPF31	OMIM:600138
HP:0034345	Mendelian inheritance	4001	LMNB1	OMIM:169500
HP:0034345	Mendelian inheritance	4001	LMNB1	OMIM:619179
HP:0034345	Mendelian inheritance	3857	KRT9	OMIM:144200
HP:0034345	Mendelian inheritance	5575	PRKAR1B	OMIM:619680
HP:0034345	Mendelian inheritance	5515	PPP2CA	OMIM:618354
HP:0034345	Mendelian inheritance	5610	EIF2AK2	OMIM:619687
HP:0034345	Mendelian inheritance	5610	EIF2AK2	OMIM:618877
HP:0034345	Mendelian inheritance	6096	RORB	OMIM:618357
HP:0034345	Mendelian inheritance	518	ATP5MC3	OMIM:619681
HP:0034345	Mendelian inheritance	4771	NF2	OMIM:162091
HP:0034345	Mendelian inheritance	4771	NF2	OMIM:101000
HP:0034345	Mendelian inheritance	4771	NF2	OMIM:607174
HP:0034345	Mendelian inheritance	6598	SMARCB1	OMIM:162091
HP:0034345	Mendelian inheritance	6598	SMARCB1	OMIM:609322
HP:0034345	Mendelian inheritance	6598	SMARCB1	OMIM:614608
HP:0034345	Mendelian inheritance	8912	CACNA1H	OMIM:617027
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:608089
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:114480
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:167000
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:176807
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:137215
HP:0034345	Mendelian inheritance	999	CDH1	OMIM:119580
HP:0034345	Mendelian inheritance	27030	MLH3	OMIM:608089
HP:0034345	Mendelian inheritance	27030	MLH3	OMIM:114500
HP:0034345	Mendelian inheritance	27030	MLH3	OMIM:614385
HP:0034345	Mendelian inheritance	55777	MBD5	OMIM:156200
HP:0034345	Mendelian inheritance	6601	SMARCC2	OMIM:618362
HP:0034345	Mendelian inheritance	6928	HNF1B	OMIM:137920
HP:0034345	Mendelian inheritance	6928	HNF1B	OMIM:125853
HP:0034345	Mendelian inheritance	92255	LMBRD2	OMIM:619694
HP:0034345	Mendelian inheritance	7021	TFAP2B	OMIM:617035
HP:0034345	Mendelian inheritance	7021	TFAP2B	OMIM:169100
HP:0034345	Mendelian inheritance	7468	NSD2	OMIM:619695
HP:0034345	Mendelian inheritance	7468	NSD2	OMIM:194190
HP:0034345	Mendelian inheritance	6334	SCN8A	OMIM:618364
HP:0034345	Mendelian inheritance	6334	SCN8A	OMIM:617080
HP:0034345	Mendelian inheritance	6334	SCN8A	OMIM:614558
HP:0034345	Mendelian inheritance	6334	SCN8A	OMIM:614306
HP:0034345	Mendelian inheritance	93166	PRDM6	OMIM:617039
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:260500
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:114480
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:137800
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:618165
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:151623
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:114500
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:260350
HP:0034345	Mendelian inheritance	7157	TP53	OMIM:202300
HP:0034345	Mendelian inheritance	9132	KCNQ4	OMIM:600101
HP:0034345	Mendelian inheritance	7703	PCGF2	OMIM:618371
HP:0034345	Mendelian inheritance	11342	RNF13	OMIM:618379
HP:0034345	Mendelian inheritance	9935	MAFB	OMIM:617041
HP:0034345	Mendelian inheritance	9935	MAFB	OMIM:166300
HP:0034345	Mendelian inheritance	2318	FLNC	OMIM:617047
HP:0034345	Mendelian inheritance	2318	FLNC	OMIM:614065
HP:0034345	Mendelian inheritance	2318	FLNC	OMIM:609524
HP:0034345	Mendelian inheritance	4761	NEUROD2	OMIM:618374
HP:0034345	Mendelian inheritance	208	AKT2	OMIM:240900
HP:0034345	Mendelian inheritance	208	AKT2	OMIM:125853
HP:0034345	Mendelian inheritance	7291	TWIST1	OMIM:180750
HP:0034345	Mendelian inheritance	7291	TWIST1	OMIM:617746
HP:0034345	Mendelian inheritance	7291	TWIST1	OMIM:101400
HP:0034345	Mendelian inheritance	7291	TWIST1	OMIM:123100
HP:0034345	Mendelian inheritance	50801	KCNK4	OMIM:618381
HP:0034345	Mendelian inheritance	29927	SEC61A1	OMIM:617056
HP:0034345	Mendelian inheritance	1413	CRYBA4	OMIM:610425
HP:0034345	Mendelian inheritance	5589	PRKCSH	OMIM:174050
HP:0034345	Mendelian inheritance	57061	HYMAI	OMIM:601410
HP:0034345	Mendelian inheritance	346171	ZFP57	OMIM:601410
HP:0034345	Mendelian inheritance	1457	CSNK2A1	OMIM:617062
HP:0034345	Mendelian inheritance	9129	PRPF3	OMIM:601414
HP:0034345	Mendelian inheritance	7204	TRIO	OMIM:617061
HP:0034345	Mendelian inheritance	7204	TRIO	OMIM:618825
HP:0034345	Mendelian inheritance	4009	LMX1A	OMIM:601412
HP:0034345	Mendelian inheritance	2324	FLT4	OMIM:153100
HP:0034345	Mendelian inheritance	2324	FLT4	OMIM:618780
HP:0034345	Mendelian inheritance	2324	FLT4	OMIM:602089
HP:0034345	Mendelian inheritance	60468	BACH2	OMIM:618394
HP:0034345	Mendelian inheritance	2566	GABRG2	OMIM:618396
HP:0034345	Mendelian inheritance	2566	GABRG2	OMIM:607681
HP:0034345	Mendelian inheritance	91662	NLRP12	OMIM:611762
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:120200
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:136520
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:120430
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:106210
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:604229
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:148190
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:165550
HP:0034345	Mendelian inheritance	5080	PAX6	OMIM:194072
HP:0034345	Mendelian inheritance	4486	MST1R	OMIM:617075
HP:0034345	Mendelian inheritance	2521	FUS	OMIM:608030
HP:0034345	Mendelian inheritance	2521	FUS	OMIM:614782
HP:0034345	Mendelian inheritance	1282	COL4A1	OMIM:611773
HP:0034345	Mendelian inheritance	1282	COL4A1	OMIM:180000
HP:0034345	Mendelian inheritance	1282	COL4A1	OMIM:175780
HP:0034345	Mendelian inheritance	1282	COL4A1	OMIM:618564
HP:0034345	Mendelian inheritance	284058	KANSL1	OMIM:610443
HP:0034345	Mendelian inheritance	23171	GPD1L	OMIM:611777
HP:0034345	Mendelian inheritance	5216	PFN1	OMIM:614808
HP:0034345	Mendelian inheritance	81494	CFHR5	OMIM:614809
HP:0034345	Mendelian inheritance	7474	WNT5A	OMIM:180700
HP:0034345	Mendelian inheritance	1855	DVL1	OMIM:180700
HP:0034345	Mendelian inheritance	1855	DVL1	OMIM:616331
HP:0034345	Mendelian inheritance	124093	CCDC78	OMIM:614807
HP:0034345	Mendelian inheritance	5903	RANBP2	OMIM:608033
HP:0034345	Mendelian inheritance	79092	CARD14	OMIM:602723
HP:0034345	Mendelian inheritance	79092	CARD14	OMIM:173200
HP:0034345	Mendelian inheritance	2034	EPAS1	OMIM:611783
HP:0034345	Mendelian inheritance	7042	TGFB2	OMIM:614816
HP:0034345	Mendelian inheritance	59	ACTA2	OMIM:611788
HP:0034345	Mendelian inheritance	59	ACTA2	OMIM:613834
HP:0034345	Mendelian inheritance	59	ACTA2	OMIM:614042
HP:0034345	Mendelian inheritance	3516	RBPJ	OMIM:614814
HP:0034345	Mendelian inheritance	2294	FOXF1	OMIM:265380
HP:0034345	Mendelian inheritance	773	CACNA1A	OMIM:183086
HP:0034345	Mendelian inheritance	773	CACNA1A	OMIM:108500
HP:0034345	Mendelian inheritance	773	CACNA1A	OMIM:141500
HP:0034345	Mendelian inheritance	773	CACNA1A	OMIM:617106
HP:0034345	Mendelian inheritance	55811	ADCY10	OMIM:143870
HP:0034345	Mendelian inheritance	6440	SFTPC	OMIM:178500
HP:0034345	Mendelian inheritance	6440	SFTPC	OMIM:610913
HP:0034345	Mendelian inheritance	727897	MUC5B	OMIM:178500
HP:0034345	Mendelian inheritance	729238	SFTPA2	OMIM:178500
HP:0034345	Mendelian inheritance	6311	ATXN2	OMIM:183090
HP:0034345	Mendelian inheritance	6311	ATXN2	OMIM:168600
HP:0034345	Mendelian inheritance	1135	CHRNA2	OMIM:610353
HP:0034345	Mendelian inheritance	23020	SNRNP200	OMIM:610359
HP:0034345	Mendelian inheritance	4597	MVD	OMIM:614714
HP:0034345	Mendelian inheritance	7780	SLC30A2	OMIM:608118
HP:0034345	Mendelian inheritance	2483	FRG1	OMIM:158900
HP:0034345	Mendelian inheritance	64324	NSD1	OMIM:117550
HP:0034345	Mendelian inheritance	1028	CDKN1C	OMIM:614732
HP:0034345	Mendelian inheritance	1028	CDKN1C	OMIM:130650
HP:0034345	Mendelian inheritance	25942	SIN3A	OMIM:613406
HP:0034345	Mendelian inheritance	5546	PRCC	OMIM:605074
HP:0034345	Mendelian inheritance	10801	SEPTIN9	OMIM:162100
HP:0034345	Mendelian inheritance	7012	TERC	OMIM:614743
HP:0034345	Mendelian inheritance	7012	TERC	OMIM:127550
HP:0034345	Mendelian inheritance	4760	NEUROD1	OMIM:606394
HP:0034345	Mendelian inheritance	4760	NEUROD1	OMIM:125853
HP:0034345	Mendelian inheritance	11330	CTRC	OMIM:167800
HP:0034345	Mendelian inheritance	5645	PRSS2	OMIM:167800
HP:0034345	Mendelian inheritance	5644	PRSS1	OMIM:167800
HP:0034345	Mendelian inheritance	3664	IRF6	OMIM:119300
HP:0034345	Mendelian inheritance	3664	IRF6	OMIM:608864
HP:0034345	Mendelian inheritance	3664	IRF6	OMIM:119500
HP:0034345	Mendelian inheritance	4784	NFIX	OMIM:614753
HP:0034345	Mendelian inheritance	4784	NFIX	OMIM:602535
HP:0034345	Mendelian inheritance	23261	CAMTA1	OMIM:614756
HP:0034345	Mendelian inheritance	70	ACTC1	OMIM:613424
HP:0034345	Mendelian inheritance	70	ACTC1	OMIM:612098
HP:0034345	Mendelian inheritance	70	ACTC1	OMIM:612794
HP:0034345	Mendelian inheritance	112476	PRRT2	OMIM:128200
HP:0034345	Mendelian inheritance	112476	PRRT2	OMIM:605751
HP:0034345	Mendelian inheritance	112476	PRRT2	OMIM:602066
HP:0034345	Mendelian inheritance	2535	FZD2	OMIM:164745
HP:0034345	Mendelian inheritance	6949	TCOF1	OMIM:154500
HP:0034345	Mendelian inheritance	1540	CYLD	OMIM:605041
HP:0034345	Mendelian inheritance	1540	CYLD	OMIM:132700
HP:0034345	Mendelian inheritance	1540	CYLD	OMIM:619132
HP:0034345	Mendelian inheritance	1540	CYLD	OMIM:601606
HP:0034345	Mendelian inheritance	171023	ASXL1	OMIM:605039
HP:0034345	Mendelian inheritance	4208	MEF2C	OMIM:613443
HP:0034345	Mendelian inheritance	22907	DHX30	OMIM:617804
HP:0034345	Mendelian inheritance	196528	ARID2	OMIM:617808
HP:0034345	Mendelian inheritance	9230	RAB11B	OMIM:617807
HP:0034345	Mendelian inheritance	80000	GREB1L	OMIM:617805
HP:0034345	Mendelian inheritance	80000	GREB1L	OMIM:619274
HP:0034345	Mendelian inheritance	26058	GIGYF2	OMIM:607688
HP:0034345	Mendelian inheritance	8048	CSRP3	OMIM:612124
HP:0034345	Mendelian inheritance	8048	CSRP3	OMIM:607482
HP:0034345	Mendelian inheritance	2290	FOXG1	OMIM:613454
HP:0034345	Mendelian inheritance	785	CACNB4	OMIM:607682
HP:0034345	Mendelian inheritance	785	CACNB4	OMIM:613855
HP:0034345	Mendelian inheritance	4792	NFKBIA	OMIM:612132
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:207410
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:123500
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:614592
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:101200
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:123790
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:101400
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:149730
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:123150
HP:0034345	Mendelian inheritance	2263	FGFR2	OMIM:101600
HP:0034345	Mendelian inheritance	2561	GABRB2	OMIM:617829
HP:0034345	Mendelian inheritance	54822	TRPM7	OMIM:105500
HP:0034345	Mendelian inheritance	25953	PNKD	OMIM:118800
HP:0034345	Mendelian inheritance	6709	SPTAN1	OMIM:613477
HP:0034345	Mendelian inheritance	4915	NTRK2	OMIM:617830
HP:0034345	Mendelian inheritance	4915	NTRK2	OMIM:613886
HP:0034345	Mendelian inheritance	668	FOXL2	OMIM:608996
HP:0034345	Mendelian inheritance	668	FOXL2	OMIM:110100
HP:0034345	Mendelian inheritance	311	ANXA11	OMIM:617839
HP:0034345	Mendelian inheritance	311	ANXA11	OMIM:619733
HP:0034345	Mendelian inheritance	5573	PRKAR1A	OMIM:255960
HP:0034345	Mendelian inheritance	5573	PRKAR1A	OMIM:101800
HP:0034345	Mendelian inheritance	5573	PRKAR1A	OMIM:160980
HP:0034345	Mendelian inheritance	5573	PRKAR1A	OMIM:610489
HP:0034345	Mendelian inheritance	3762	KCNJ5	OMIM:613485
HP:0034345	Mendelian inheritance	3762	KCNJ5	OMIM:613677
HP:0034345	Mendelian inheritance	26060	APPL1	OMIM:616511
HP:0034345	Mendelian inheritance	88	ACTN2	OMIM:612158
HP:0034345	Mendelian inheritance	88	ACTN2	OMIM:618654
HP:0034345	Mendelian inheritance	88	ACTN2	OMIM:618655
HP:0034345	Mendelian inheritance	3887	KRT81	OMIM:158000
HP:0034345	Mendelian inheritance	3892	KRT86	OMIM:158000
HP:0034345	Mendelian inheritance	2703	GJA8	OMIM:116200
HP:0034345	Mendelian inheritance	2703	GJA8	OMIM:612474
HP:0034345	Mendelian inheritance	6812	STXBP1	OMIM:612164
HP:0034345	Mendelian inheritance	1213	CLTC	OMIM:617854
HP:0034345	Mendelian inheritance	23040	MYT1L	OMIM:616521
HP:0034345	Mendelian inheritance	203228	C9orf72	OMIM:105550
HP:0034345	Mendelian inheritance	1495	CTNNA1	OMIM:608970
HP:0034345	Mendelian inheritance	11235	PDCD10	OMIM:603285
HP:0034345	Mendelian inheritance	83605	CCM2	OMIM:603284
HP:0034345	Mendelian inheritance	81	ACTN4	OMIM:603278
HP:0034345	Mendelian inheritance	284252	KCTD1	OMIM:181270
HP:0034345	Mendelian inheritance	3040	HBA2	OMIM:140700
HP:0034345	Mendelian inheritance	3040	HBA2	OMIM:617981
HP:0034345	Mendelian inheritance	3039	HBA1	OMIM:140700
HP:0034345	Mendelian inheritance	3039	HBA1	OMIM:617973
HP:0034345	Mendelian inheritance	3039	HBA1	OMIM:617981
HP:0034345	Mendelian inheritance	726	CAPN5	OMIM:193235
HP:0034345	Mendelian inheritance	3026	HABP2	OMIM:616535
HP:0034345	Mendelian inheritance	3026	HABP2	OMIM:188050
HP:0034345	Mendelian inheritance	57688	ZSWIM6	OMIM:617865
HP:0034345	Mendelian inheritance	57688	ZSWIM6	OMIM:603671
HP:0034345	Mendelian inheritance	2893	GRIA4	OMIM:617864
HP:0034345	Mendelian inheritance	3661	IRF3	OMIM:616532
HP:0034345	Mendelian inheritance	6622	SNCA	OMIM:127750
HP:0034345	Mendelian inheritance	6622	SNCA	OMIM:605543
HP:0034345	Mendelian inheritance	6622	SNCA	OMIM:168601
HP:0034345	Mendelian inheritance	6620	SNCB	OMIM:127750
HP:0034345	Mendelian inheritance	114327	EFHC1	OMIM:607631
HP:0034345	Mendelian inheritance	114327	EFHC1	OMIM:254770
HP:0034345	Mendelian inheritance	4835	NQO2	OMIM:114480
HP:0034345	Mendelian inheritance	5245	PHB1	OMIM:114480
HP:0034345	Mendelian inheritance	11200	CHEK2	OMIM:114480
HP:0034345	Mendelian inheritance	11200	CHEK2	OMIM:609265
HP:0034345	Mendelian inheritance	11200	CHEK2	OMIM:114500
HP:0034345	Mendelian inheritance	11200	CHEK2	OMIM:176807
HP:0034345	Mendelian inheritance	3161	HMMR	OMIM:114480
HP:0034345	Mendelian inheritance	580	BARD1	OMIM:114480
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:114480
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:619538
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:615108
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:114500
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:167000
HP:0034345	Mendelian inheritance	5290	PIK3CA	OMIM:211980
HP:0034345	Mendelian inheritance	8493	PPM1D	OMIM:114480
HP:0034345	Mendelian inheritance	8493	PPM1D	OMIM:617450
HP:0034345	Mendelian inheritance	207	AKT1	OMIM:114480
HP:0034345	Mendelian inheritance	207	AKT1	OMIM:615109
HP:0034345	Mendelian inheritance	207	AKT1	OMIM:114500
HP:0034345	Mendelian inheritance	207	AKT1	OMIM:167000
HP:0034345	Mendelian inheritance	5888	RAD51	OMIM:114480
HP:0034345	Mendelian inheritance	5888	RAD51	OMIM:614508
HP:0034345	Mendelian inheritance	5888	RAD51	OMIM:617244
HP:0034345	Mendelian inheritance	7517	XRCC3	OMIM:114480
HP:0034345	Mendelian inheritance	9821	RB1CC1	OMIM:114480
HP:0034345	Mendelian inheritance	8438	RAD54L	OMIM:114480
HP:0034345	Mendelian inheritance	10383	TUBB4B	OMIM:617879
HP:0034345	Mendelian inheritance	2213	FCGR2B	OMIM:152700
HP:0034345	Mendelian inheritance	26191	PTPN22	OMIM:152700
HP:0034345	Mendelian inheritance	1493	CTLA4	OMIM:152700
HP:0034345	Mendelian inheritance	1493	CTLA4	OMIM:616100
HP:0034345	Mendelian inheritance	1493	CTLA4	OMIM:140300
HP:0034345	Mendelian inheritance	1773	DNASE1	OMIM:152700
HP:0034345	Mendelian inheritance	1453	CSNK1D	OMIM:615224
HP:0034345	Mendelian inheritance	6655	SOS2	OMIM:616559
HP:0034345	Mendelian inheritance	23646	PLD3	OMIM:617770
HP:0034345	Mendelian inheritance	114548	NLRP3	OMIM:617772
HP:0034345	Mendelian inheritance	114548	NLRP3	OMIM:120100
HP:0034345	Mendelian inheritance	114548	NLRP3	OMIM:191900
HP:0034345	Mendelian inheritance	114548	NLRP3	OMIM:148200
HP:0034345	Mendelian inheritance	114548	NLRP3	OMIM:607115
HP:0034345	Mendelian inheritance	343450	KCNT2	OMIM:617771
HP:0034345	Mendelian inheritance	51111	KMT5B	OMIM:617788
HP:0034345	Mendelian inheritance	55689	YEATS2	OMIM:615127
HP:0034345	Mendelian inheritance	80155	NAA15	OMIM:617787
HP:0034345	Mendelian inheritance	526	ATP6V1B2	OMIM:616455
HP:0034345	Mendelian inheritance	526	ATP6V1B2	OMIM:124480
HP:0034345	Mendelian inheritance	1991	ELANE	OMIM:162800
HP:0034345	Mendelian inheritance	1991	ELANE	OMIM:202700
HP:0034345	Mendelian inheritance	146057	TTBK2	OMIM:604432
HP:0034345	Mendelian inheritance	51083	GAL	OMIM:616461
HP:0034345	Mendelian inheritance	55870	ASH1L	OMIM:617796
HP:0034345	Mendelian inheritance	25885	POLR1A	OMIM:616462
HP:0034345	Mendelian inheritance	816	CAMK2B	OMIM:617799
HP:0034345	Mendelian inheritance	861	RUNX1	OMIM:601399
HP:0034345	Mendelian inheritance	861	RUNX1	OMIM:601626
HP:0034345	Mendelian inheritance	2783	GNB2	OMIM:619503
HP:0034345	Mendelian inheritance	2783	GNB2	OMIM:619464
HP:0034345	Mendelian inheritance	26057	ANKRD17	OMIM:619504
HP:0034345	Mendelian inheritance	9051	PSTPIP1	OMIM:604416
HP:0034345	Mendelian inheritance	10594	PRPF8	OMIM:600059
HP:0034345	Mendelian inheritance	10043	TOM1	OMIM:619510
HP:0034345	Mendelian inheritance	3481	IGF2	OMIM:616489
HP:0034345	Mendelian inheritance	3481	IGF2	OMIM:180860
HP:0034345	Mendelian inheritance	3481	IGF2	OMIM:130650
HP:0034345	Mendelian inheritance	3481	IGF2	OMIM:194070
HP:0034345	Mendelian inheritance	57863	CADM3	OMIM:619519
HP:0034345	Mendelian inheritance	6323	SCN1A	OMIM:604403
HP:0034345	Mendelian inheritance	6323	SCN1A	OMIM:619317
HP:0034345	Mendelian inheritance	6323	SCN1A	OMIM:607208
HP:0034345	Mendelian inheritance	6323	SCN1A	OMIM:609634
HP:0034345	Mendelian inheritance	79188	TMEM43	OMIM:604400
HP:0034345	Mendelian inheritance	79188	TMEM43	OMIM:614302
HP:0034345	Mendelian inheritance	79188	TMEM43	OMIM:619832
HP:0034345	Mendelian inheritance	10021	HCN4	OMIM:619521
HP:0034345	Mendelian inheritance	10021	HCN4	OMIM:163800
HP:0034345	Mendelian inheritance	7750	ZMYM2	OMIM:619522
HP:0034345	Mendelian inheritance	6934	TCF7L2	OMIM:125853
HP:0034345	Mendelian inheritance	3172	HNF4A	OMIM:125853
HP:0034345	Mendelian inheritance	3172	HNF4A	OMIM:125850
HP:0034345	Mendelian inheritance	3172	HNF4A	OMIM:616026
HP:0034345	Mendelian inheritance	3569	IL6	OMIM:125853
HP:0034345	Mendelian inheritance	3569	IL6	OMIM:148000
HP:0034345	Mendelian inheritance	6927	HNF1A	OMIM:125853
HP:0034345	Mendelian inheritance	6927	HNF1A	OMIM:142330
HP:0034345	Mendelian inheritance	6927	HNF1A	OMIM:600496
HP:0034345	Mendelian inheritance	9479	MAPK8IP1	OMIM:125853
HP:0034345	Mendelian inheritance	56729	RETN	OMIM:125853
HP:0034345	Mendelian inheritance	4544	MTNR1B	OMIM:125853
HP:0034345	Mendelian inheritance	5506	PPP1R3A	OMIM:125853
HP:0034345	Mendelian inheritance	10644	IGF2BP2	OMIM:125853
HP:0034345	Mendelian inheritance	5770	PTPN1	OMIM:125853
HP:0034345	Mendelian inheritance	8660	IRS2	OMIM:125853
HP:0034345	Mendelian inheritance	3159	HMGA1	OMIM:125853
HP:0034345	Mendelian inheritance	3667	IRS1	OMIM:125853
HP:0034345	Mendelian inheritance	169026	SLC30A8	OMIM:125853
HP:0034345	Mendelian inheritance	2820	GPD2	OMIM:125853
HP:0034345	Mendelian inheritance	57479	PRR12	OMIM:619539
HP:0034345	Mendelian inheritance	79651	RHBDF2	OMIM:148500
HP:0034345	Mendelian inheritance	1107	CHD3	OMIM:618205
HP:0034345	Mendelian inheritance	351	APP	OMIM:605714
HP:0034345	Mendelian inheritance	351	APP	OMIM:104300
HP:0034345	Mendelian inheritance	6595	SMARCA2	OMIM:601358
HP:0034345	Mendelian inheritance	6595	SMARCA2	OMIM:619293
HP:0034345	Mendelian inheritance	59345	GNB4	OMIM:615185
HP:0034345	Mendelian inheritance	1419	CRYGB	OMIM:615188
HP:0034345	Mendelian inheritance	6857	SYT1	OMIM:618218
HP:0034345	Mendelian inheritance	6909	TBX2	OMIM:618223
HP:0034345	Mendelian inheritance	51422	PRKAG2	OMIM:261740
HP:0034345	Mendelian inheritance	51422	PRKAG2	OMIM:600858
HP:0034345	Mendelian inheritance	51422	PRKAG2	OMIM:194200
HP:0034345	Mendelian inheritance	87	ACTN1	OMIM:615193
HP:0034345	Mendelian inheritance	30000	TNPO2	OMIM:619556
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:259420
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:166710
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:130060
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:114000
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:619115
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:166210
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:166220
HP:0034345	Mendelian inheritance	1277	COL1A1	OMIM:166200
HP:0034345	Mendelian inheritance	7056	THBD	OMIM:612926
HP:0034345	Mendelian inheritance	7056	THBD	OMIM:614486
HP:0034345	Mendelian inheritance	80114	BICC1	OMIM:601331
HP:0034345	Mendelian inheritance	7555	CNBP	OMIM:602668
HP:0034345	Mendelian inheritance	10659	CELF2	OMIM:619561
HP:0034345	Mendelian inheritance	7846	TUBA1A	OMIM:611603
HP:0034345	Mendelian inheritance	4763	NF1	OMIM:601321
HP:0034345	Mendelian inheritance	4763	NF1	OMIM:162210
HP:0034345	Mendelian inheritance	4763	NF1	OMIM:162200
HP:0034345	Mendelian inheritance	4763	NF1	OMIM:193520
HP:0034345	Mendelian inheritance	4763	NF1	OMIM:607785
HP:0034345	Mendelian inheritance	57551	TAOK1	OMIM:619575
HP:0034345	Mendelian inheritance	3417	IDH1	OMIM:137800
HP:0034345	Mendelian inheritance	182	JAG1	OMIM:619574
HP:0034345	Mendelian inheritance	182	JAG1	OMIM:187500
HP:0034345	Mendelian inheritance	182	JAG1	OMIM:118450
HP:0034345	Mendelian inheritance	182	JAG1	OMIM:617992
HP:0034345	Mendelian inheritance	7169	TPM2	OMIM:609285
HP:0034345	Mendelian inheritance	7169	TPM2	OMIM:108120
HP:0034345	Mendelian inheritance	2771	GNAI2	OMIM:192605
HP:0034345	Mendelian inheritance	4624	MYH6	OMIM:192600
HP:0034345	Mendelian inheritance	4624	MYH6	OMIM:613251
HP:0034345	Mendelian inheritance	4624	MYH6	OMIM:613252
HP:0034345	Mendelian inheritance	4624	MYH6	OMIM:614089
HP:0034345	Mendelian inheritance	85366	MYLK2	OMIM:192600
HP:0034345	Mendelian inheritance	2070	EYA4	OMIM:601316
HP:0034345	Mendelian inheritance	2070	EYA4	OMIM:605362
HP:0034345	Mendelian inheritance	390594	KBTBD13	OMIM:609273
HP:0034345	Mendelian inheritance	23384	SPECC1L	OMIM:145420
HP:0034345	Mendelian inheritance	23384	SPECC1L	OMIM:600251
HP:0034345	Mendelian inheritance	151516	ASPRV1	OMIM:146750
HP:0034345	Mendelian inheritance	6640	SNTA1	OMIM:612955
HP:0034345	Mendelian inheritance	6657	SOX2	OMIM:206900
HP:0034345	Mendelian inheritance	9531	BAG3	OMIM:612954
HP:0034345	Mendelian inheritance	9531	BAG3	OMIM:613881
HP:0034345	Mendelian inheritance	1804	DPP6	OMIM:612956
HP:0034345	Mendelian inheritance	1804	DPP6	OMIM:616311
HP:0034345	Mendelian inheritance	7225	TRPC6	OMIM:603965
HP:0034345	Mendelian inheritance	55229	PANK4	OMIM:619593
HP:0034345	Mendelian inheritance	9423	NTN1	OMIM:618264
HP:0034345	Mendelian inheritance	5530	PPP3CA	OMIM:618265
HP:0034345	Mendelian inheritance	5530	PPP3CA	OMIM:617711
HP:0034345	Mendelian inheritance	2254	FGF9	OMIM:612961
HP:0034345	Mendelian inheritance	6469	SHH	OMIM:611638
HP:0034345	Mendelian inheritance	6469	SHH	OMIM:147250
HP:0034345	Mendelian inheritance	6469	SHH	OMIM:142945
HP:0034345	Mendelian inheritance	8204	NRIP1	OMIM:618270
HP:0034345	Mendelian inheritance	79776	ZFHX4	OMIM:178300
HP:0034345	Mendelian inheritance	5375	PMP2	OMIM:618279
HP:0034345	Mendelian inheritance	22983	MAST1	OMIM:618273
HP:0034345	Mendelian inheritance	55145	THAP1	OMIM:602629
HP:0034345	Mendelian inheritance	745	MYRF	OMIM:618280
HP:0034345	Mendelian inheritance	745	MYRF	OMIM:618113
HP:0034345	Mendelian inheritance	7080	NKX2-1	OMIM:188550
HP:0034345	Mendelian inheritance	7080	NKX2-1	OMIM:118700
HP:0034345	Mendelian inheritance	7080	NKX2-1	OMIM:610978
HP:0034345	Mendelian inheritance	777	CACNA1E	OMIM:618285
HP:0034345	Mendelian inheritance	4781	NFIB	OMIM:618286
HP:0034345	Mendelian inheritance	3851	KRT4	OMIM:193900
HP:0034345	Mendelian inheritance	5970	RELA	OMIM:618287
HP:0034345	Mendelian inheritance	221692	PHACTR1	OMIM:618298
HP:0034345	Mendelian inheritance	23224	SYNE2	OMIM:612999
HP:0034345	Mendelian inheritance	10262	SF3B4	OMIM:154400
HP:0034345	Mendelian inheritance	375	ARF1	OMIM:618185
HP:0034345	Mendelian inheritance	2100	ESR2	OMIM:618187
HP:0034345	Mendelian inheritance	400916	CHCHD10	OMIM:615911
HP:0034345	Mendelian inheritance	400916	CHCHD10	OMIM:615048
HP:0034345	Mendelian inheritance	400916	CHCHD10	OMIM:616209
HP:0034345	Mendelian inheritance	5894	RAF1	OMIM:611554
HP:0034345	Mendelian inheritance	5894	RAF1	OMIM:611553
HP:0034345	Mendelian inheritance	5894	RAF1	OMIM:615916
HP:0034345	Mendelian inheritance	79755	ZNF750	OMIM:610227
HP:0034345	Mendelian inheritance	3239	HOXD13	OMIM:186000
HP:0034345	Mendelian inheritance	3239	HOXD13	OMIM:113300
HP:0034345	Mendelian inheritance	3239	HOXD13	OMIM:186300
HP:0034345	Mendelian inheritance	3239	HOXD13	OMIM:113200
HP:0034345	Mendelian inheritance	2050	EPHB4	OMIM:618196
HP:0034345	Mendelian inheritance	2050	EPHB4	OMIM:617300
HP:0034345	Mendelian inheritance	9128	PRPF4	OMIM:615922
HP:0034345	Mendelian inheritance	2022	ENG	OMIM:187300
HP:0034345	Mendelian inheritance	1687	GSDME	OMIM:600994
HP:0034345	Mendelian inheritance	1427	CRYGS	OMIM:116100
HP:0034345	Mendelian inheritance	1029	CDKN2A	OMIM:155755
HP:0034345	Mendelian inheritance	1029	CDKN2A	OMIM:606719
HP:0034345	Mendelian inheritance	1029	CDKN2A	OMIM:155601
HP:0034345	Mendelian inheritance	118813	ZFYVE27	OMIM:610244
HP:0034345	Mendelian inheritance	340061	STING1	OMIM:615934
HP:0034345	Mendelian inheritance	5173	PDYN	OMIM:610245
HP:0034345	Mendelian inheritance	10000	AKT3	OMIM:615937
HP:0034345	Mendelian inheritance	894	CCND2	OMIM:615938
HP:0034345	Mendelian inheritance	8289	ARID1A	OMIM:614607
HP:0034345	Mendelian inheritance	3849	KRT2	OMIM:146800
HP:0034345	Mendelian inheritance	6597	SMARCA4	OMIM:614609
HP:0034345	Mendelian inheritance	6597	SMARCA4	OMIM:613325
HP:0034345	Mendelian inheritance	4212	MEIS2	OMIM:600987
HP:0034345	Mendelian inheritance	217	ALDH2	OMIM:610251
HP:0034345	Mendelian inheritance	79813	EHMT1	OMIM:610253
HP:0034345	Mendelian inheritance	6663	SOX10	OMIM:611584
HP:0034345	Mendelian inheritance	6663	SOX10	OMIM:609136
HP:0034345	Mendelian inheritance	6663	SOX10	OMIM:613266
HP:0034345	Mendelian inheritance	5144	PDE4D	OMIM:614613
HP:0034345	Mendelian inheritance	1600	DAB1	OMIM:615945
HP:0034345	Mendelian inheritance	4582	MUC1	OMIM:174000
HP:0034345	Mendelian inheritance	3265	HRAS	OMIM:218040
HP:0034345	Mendelian inheritance	3265	HRAS	OMIM:109800
HP:0034345	Mendelian inheritance	3265	HRAS	OMIM:188470
HP:0034345	Mendelian inheritance	283375	SLC39A5	OMIM:615946
HP:0034345	Mendelian inheritance	5925	RB1	OMIM:109800
HP:0034345	Mendelian inheritance	5925	RB1	OMIM:180200
HP:0034345	Mendelian inheritance	5925	RB1	OMIM:182280
HP:0034345	Mendelian inheritance	2335	FN1	OMIM:184255
HP:0034345	Mendelian inheritance	2335	FN1	OMIM:601894
HP:0034345	Mendelian inheritance	1938	EEF2	OMIM:609306
HP:0034345	Mendelian inheritance	83394	PITPNM3	OMIM:600977
HP:0034345	Mendelian inheritance	6774	STAT3	OMIM:615952
HP:0034345	Mendelian inheritance	6774	STAT3	OMIM:147060
HP:0034345	Mendelian inheritance	8419	BFSP2	OMIM:611597
HP:0034345	Mendelian inheritance	79798	ARMC5	OMIM:615954
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:129400
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:604292
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:603543
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:106260
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:103285
HP:0034345	Mendelian inheritance	8626	TP63	OMIM:605289
HP:0034345	Mendelian inheritance	60481	ELOVL5	OMIM:615957
HP:0034345	Mendelian inheritance	2908	NR3C1	OMIM:615962
HP:0034345	Mendelian inheritance	488	ATP2A2	OMIM:101900
HP:0034345	Mendelian inheritance	488	ATP2A2	OMIM:124200
HP:0034345	Mendelian inheritance	6231	RPS26	OMIM:613309
HP:0034345	Mendelian inheritance	6204	RPS10	OMIM:613308
HP:0034345	Mendelian inheritance	7369	UMOD	OMIM:162000
HP:0034345	Mendelian inheritance	23554	TSPAN12	OMIM:613310
HP:0034345	Mendelian inheritance	26022	TMEM98	OMIM:615972
HP:0034345	Mendelian inheritance	611	OPN1SW	OMIM:190900
HP:0034345	Mendelian inheritance	10382	TUBB4A	OMIM:128101
HP:0034345	Mendelian inheritance	10382	TUBB4A	OMIM:612438
HP:0034345	Mendelian inheritance	51621	KLF13	OMIM:612001
HP:0034345	Mendelian inheritance	1139	CHRNA7	OMIM:612001
HP:0034345	Mendelian inheritance	3290	HSD11B1	OMIM:614662
HP:0034345	Mendelian inheritance	54205	CYCS	OMIM:612004
HP:0034345	Mendelian inheritance	85358	SHANK3	OMIM:606232
HP:0034345	Mendelian inheritance	85358	SHANK3	OMIM:613950
HP:0034345	Mendelian inheritance	6731	SRP72	OMIM:614675
HP:0034345	Mendelian inheritance	287	ANK2	OMIM:600919
HP:0034345	Mendelian inheritance	3350	HTR1A	OMIM:614674
HP:0034345	Mendelian inheritance	387700	SLC16A12	OMIM:612018
HP:0034345	Mendelian inheritance	324	APC	OMIM:135290
HP:0034345	Mendelian inheritance	324	APC	OMIM:114500
HP:0034345	Mendelian inheritance	324	APC	OMIM:619182
HP:0034345	Mendelian inheritance	324	APC	OMIM:175100
HP:0034345	Mendelian inheritance	78987	CRELD1	OMIM:606217
HP:0034345	Mendelian inheritance	7784	ZP3	OMIM:617712
HP:0034345	Mendelian inheritance	4487	MSX1	OMIM:608874
HP:0034345	Mendelian inheritance	4487	MSX1	OMIM:189500
HP:0034345	Mendelian inheritance	4487	MSX1	OMIM:106600
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:607541
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:122200
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:121820
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:608470
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:608471
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:121900
HP:0034345	Mendelian inheritance	7045	TGFBI	OMIM:602082
HP:0034345	Mendelian inheritance	7453	WARS1	OMIM:617721
HP:0034345	Mendelian inheritance	2006	ELN	OMIM:185500
HP:0034345	Mendelian inheritance	2006	ELN	OMIM:123700
HP:0034345	Mendelian inheritance	2006	ELN	OMIM:194050
HP:0034345	Mendelian inheritance	8988	HSPB3	OMIM:613376
HP:0034345	Mendelian inheritance	640	BLK	OMIM:613375
HP:0034345	Mendelian inheritance	84617	TUBB6	OMIM:617732
HP:0034345	Mendelian inheritance	162514	TRPV3	OMIM:616400
HP:0034345	Mendelian inheritance	162514	TRPV3	OMIM:614594
HP:0034345	Mendelian inheritance	1917	EEF1A2	OMIM:616409
HP:0034345	Mendelian inheritance	1917	EEF1A2	OMIM:616393
HP:0034345	Mendelian inheritance	7222	TRPC3	OMIM:616410
HP:0034345	Mendelian inheritance	5744	PTHLH	OMIM:613382
HP:0034345	Mendelian inheritance	1314	COPA	OMIM:616414
HP:0034345	Mendelian inheritance	9213	XPR1	OMIM:616413
HP:0034345	Mendelian inheritance	4780	NFE2L2	OMIM:617744
HP:0034345	Mendelian inheritance	4626	MYH8	OMIM:608837
HP:0034345	Mendelian inheritance	4626	MYH8	OMIM:158300
HP:0034345	Mendelian inheritance	6529	SLC6A1	OMIM:616421
HP:0034345	Mendelian inheritance	9320	TRIP12	OMIM:617752
HP:0034345	Mendelian inheritance	5879	RAC1	OMIM:617751
HP:0034345	Mendelian inheritance	2186	BPTF	OMIM:617755
HP:0034345	Mendelian inheritance	23435	TARDBP	OMIM:612069
HP:0034345	Mendelian inheritance	359948	IRF2BP2	OMIM:617765
HP:0034345	Mendelian inheritance	29110	TBK1	OMIM:616439
HP:0034345	Mendelian inheritance	29110	TBK1	OMIM:617900
HP:0034345	Mendelian inheritance	2196	FAT2	OMIM:617769
HP:0034345	Mendelian inheritance	58508	KMT2C	OMIM:617768
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:102370
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:604308
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:154700
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:129600
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:616914
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:614185
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:184900
HP:0034345	Mendelian inheritance	2200	FBN1	OMIM:608328
HP:0034345	Mendelian inheritance	5521	PPP2R2B	OMIM:604326
HP:0034345	Mendelian inheritance	3872	KRT17	OMIM:184500
HP:0034345	Mendelian inheritance	3872	KRT17	OMIM:167210
HP:0034345	Mendelian inheritance	6616	SNAP25	OMIM:616330
HP:0034345	Mendelian inheritance	57582	KCNT1	OMIM:615005
HP:0034345	Mendelian inheritance	57582	KCNT1	OMIM:614959
HP:0034345	Mendelian inheritance	7532	YWHAG	OMIM:617665
HP:0034345	Mendelian inheritance	55690	PACS1	OMIM:615009
HP:0034345	Mendelian inheritance	3716	JAK1	OMIM:618999
HP:0034345	Mendelian inheritance	9885	OSBPL2	OMIM:616340
HP:0034345	Mendelian inheritance	7343	UBTF	OMIM:617672
HP:0034345	Mendelian inheritance	150094	SIK1	OMIM:616341
HP:0034345	Mendelian inheritance	6100	RP9	OMIM:180104
HP:0034345	Mendelian inheritance	3614	IMPDH1	OMIM:180105
HP:0034345	Mendelian inheritance	3614	IMPDH1	OMIM:613837
HP:0034345	Mendelian inheritance	1420	CRYGC	OMIM:604307
HP:0034345	Mendelian inheritance	6926	TBX3	OMIM:181450
HP:0034345	Mendelian inheritance	10087	CERT1	OMIM:616351
HP:0034345	Mendelian inheritance	1105	CHD1	OMIM:617682
HP:0034345	Mendelian inheritance	1500	CTNND1	OMIM:617681
HP:0034345	Mendelian inheritance	5528	PPP2R5D	OMIM:616355
HP:0034345	Mendelian inheritance	1428	CRYM	OMIM:616357
HP:0034345	Mendelian inheritance	55065	SLC52A1	OMIM:615026
HP:0034345	Mendelian inheritance	26040	SETBP1	OMIM:269150
HP:0034345	Mendelian inheritance	26040	SETBP1	OMIM:616078
HP:0034345	Mendelian inheritance	9241	NOG	OMIM:185800
HP:0034345	Mendelian inheritance	9241	NOG	OMIM:611377
HP:0034345	Mendelian inheritance	9241	NOG	OMIM:184460
HP:0034345	Mendelian inheritance	9241	NOG	OMIM:186570
HP:0034345	Mendelian inheritance	9241	NOG	OMIM:186500
HP:0034345	Mendelian inheritance	5518	PPP2R1A	OMIM:616362
HP:0034345	Mendelian inheritance	3737	KCNA2	OMIM:616366
HP:0034345	Mendelian inheritance	63982	ANO3	OMIM:615034
HP:0034345	Mendelian inheritance	23126	POGZ	OMIM:616364
HP:0034345	Mendelian inheritance	57680	CHD8	OMIM:615032
HP:0034345	Mendelian inheritance	27125	AFF4	OMIM:616368
HP:0034345	Mendelian inheritance	1909	EDNRA	OMIM:616367
HP:0034345	Mendelian inheritance	1909	EDNRA	OMIM:157300
HP:0034345	Mendelian inheritance	2138	EYA1	OMIM:602588
HP:0034345	Mendelian inheritance	2138	EYA1	OMIM:166780
HP:0034345	Mendelian inheritance	2138	EYA1	OMIM:113650
HP:0034345	Mendelian inheritance	7075	TIE1	OMIM:619401
HP:0034345	Mendelian inheritance	8989	TRPA1	OMIM:615040
HP:0034345	Mendelian inheritance	80206	FHOD3	OMIM:619402
HP:0034345	Mendelian inheritance	6635	SNRPE	OMIM:615059
HP:0034345	Mendelian inheritance	3752	KCND3	OMIM:616399
HP:0034345	Mendelian inheritance	3752	KCND3	OMIM:607346
HP:0034345	Mendelian inheritance	79734	KCTD17	OMIM:616398
HP:0034345	Mendelian inheritance	2202	EFEMP1	OMIM:126600
HP:0034345	Mendelian inheritance	7227	TRPS1	OMIM:190350
HP:0034345	Mendelian inheritance	7227	TRPS1	OMIM:190351
HP:0034345	Mendelian inheritance	7046	TGFBR1	OMIM:609192
HP:0034345	Mendelian inheritance	7046	TGFBR1	OMIM:132800
HP:0034345	Mendelian inheritance	1642	DDB1	OMIM:619426
HP:0034345	Mendelian inheritance	81603	TRIM8	OMIM:619428
HP:0034345	Mendelian inheritance	8322	FZD4	OMIM:133780
HP:0034345	Mendelian inheritance	57459	GATAD2B	OMIM:615074
HP:0034345	Mendelian inheritance	2774	GNAL	OMIM:615073
HP:0034345	Mendelian inheritance	56896	DPYSL5	OMIM:619435
HP:0034345	Mendelian inheritance	72	ACTG2	OMIM:619431
HP:0034345	Mendelian inheritance	72	ACTG2	OMIM:155310
HP:0034345	Mendelian inheritance	6418	SET	OMIM:618106
HP:0034345	Mendelian inheritance	22806	IKZF3	OMIM:619437
HP:0034345	Mendelian inheritance	4838	NODAL	OMIM:270100
HP:0034345	Mendelian inheritance	317719	KLHL10	OMIM:615081
HP:0034345	Mendelian inheritance	6299	SALL1	OMIM:107480
HP:0034345	Mendelian inheritance	1747	DLX3	OMIM:190320
HP:0034345	Mendelian inheritance	1747	DLX3	OMIM:104510
HP:0034345	Mendelian inheritance	23405	DICER1	OMIM:601200
HP:0034345	Mendelian inheritance	23405	DICER1	OMIM:138800
HP:0034345	Mendelian inheritance	57534	MIB1	OMIM:615092
HP:0034345	Mendelian inheritance	3756	KCNH1	OMIM:135500
HP:0034345	Mendelian inheritance	3756	KCNH1	OMIM:611816
HP:0034345	Mendelian inheritance	8622	PDE8B	OMIM:609161
HP:0034345	Mendelian inheritance	8622	PDE8B	OMIM:614190
HP:0034345	Mendelian inheritance	6045	RNF2	OMIM:619460
HP:0034345	Mendelian inheritance	4627	MYH9	OMIM:155100
HP:0034345	Mendelian inheritance	4627	MYH9	OMIM:603622
HP:0034345	Mendelian inheritance	22852	ANKRD26	OMIM:188000
HP:0034345	Mendelian inheritance	1814	DRD3	OMIM:190300
HP:0034345	Mendelian inheritance	1814	DRD3	OMIM:181500
HP:0034345	Mendelian inheritance	10058	ABCB6	OMIM:609153
HP:0034345	Mendelian inheritance	10058	ABCB6	OMIM:614497
HP:0034345	Mendelian inheritance	10058	ABCB6	OMIM:615402
HP:0034345	Mendelian inheritance	5137	PDE1C	OMIM:618140
HP:0034345	Mendelian inheritance	8812	CCNK	OMIM:618147
HP:0034345	Mendelian inheritance	3236	HOXD10	OMIM:192950
HP:0034345	Mendelian inheritance	23316	CUX2	OMIM:618141
HP:0034345	Mendelian inheritance	100996717	NOTCH2NLC	OMIM:619473
HP:0034345	Mendelian inheritance	100996717	NOTCH2NLC	OMIM:618866
HP:0034345	Mendelian inheritance	100996717	NOTCH2NLC	OMIM:603472
HP:0034345	Mendelian inheritance	6711	SPTBN1	OMIM:619475
HP:0034345	Mendelian inheritance	6935	ZEB1	OMIM:609141
HP:0034345	Mendelian inheritance	1296	COL8A2	OMIM:609140
HP:0034345	Mendelian inheritance	1296	COL8A2	OMIM:136800
HP:0034345	Mendelian inheritance	79574	EPS8L3	OMIM:612841
HP:0034345	Mendelian inheritance	5378	PMS1	OMIM:120435
HP:0034345	Mendelian inheritance	10413	YAP1	OMIM:120433
HP:0034345	Mendelian inheritance	11198	SUPT16H	OMIM:619480
HP:0034345	Mendelian inheritance	1412	CRYBA2	OMIM:115900
HP:0034345	Mendelian inheritance	5058	PAK1	OMIM:618158
HP:0034345	Mendelian inheritance	23385	NCSTN	OMIM:142690
HP:0034345	Mendelian inheritance	3145	HMBS	OMIM:176000
HP:0034345	Mendelian inheritance	3921	RPSA	OMIM:271400
HP:0034345	Mendelian inheritance	25978	CHMP2B	OMIM:600795
HP:0034345	Mendelian inheritance	81624	DIAPH3	OMIM:609129
HP:0034345	Mendelian inheritance	4221	MEN1	OMIM:131100
HP:0034345	Mendelian inheritance	84231	TRAF7	OMIM:618164
HP:0034345	Mendelian inheritance	116519	APOA5	OMIM:145750
HP:0034345	Mendelian inheritance	116519	APOA5	OMIM:144650
HP:0034345	Mendelian inheritance	4094	MAF	OMIM:610202
HP:0034345	Mendelian inheritance	4094	MAF	OMIM:601088
HP:0034345	Mendelian inheritance	4853	NOTCH2	OMIM:610205
HP:0034345	Mendelian inheritance	4853	NOTCH2	OMIM:102500
HP:0034345	Mendelian inheritance	4327	MMP19	OMIM:611543
HP:0034345	Mendelian inheritance	9987	HNRNPDL	OMIM:609115
HP:0034345	Mendelian inheritance	135935	NOBOX	OMIM:611548
HP:0034345	Mendelian inheritance	6235	RPS29	OMIM:615909
HP:0034345	Mendelian inheritance	7424	VEGFC	OMIM:615907
HP:0034345	Mendelian inheritance	6095	RORA	OMIM:618060
HP:0034345	Mendelian inheritance	51726	DNAJB11	OMIM:618061
HP:0034345	Mendelian inheritance	677814	SNORA31	OMIM:619396
HP:0034345	Mendelian inheritance	23241	PACS2	OMIM:618067
HP:0034345	Mendelian inheritance	161742	SPRED1	OMIM:611431
HP:0034345	Mendelian inheritance	50717	DCAF8	OMIM:610100
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:115150
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:114500
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:211980
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:613707
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:613706
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:155600
HP:0034345	Mendelian inheritance	673	BRAF	OMIM:163950
HP:0034345	Mendelian inheritance	9839	ZEB2	OMIM:235730
HP:0034345	Mendelian inheritance	1411	CRYBA1	OMIM:600881
HP:0034345	Mendelian inheritance	7879	RAB7A	OMIM:600882
HP:0034345	Mendelian inheritance	27327	TNRC6A	OMIM:618074
HP:0034345	Mendelian inheritance	9693	RAPGEF2	OMIM:618075
HP:0034345	Mendelian inheritance	55765	INAVA	OMIM:618077
HP:0034345	Mendelian inheritance	843	CASP10	OMIM:603909
HP:0034345	Mendelian inheritance	144568	A2ML1	OMIM:166760
HP:0034345	Mendelian inheritance	10225	CD96	OMIM:211750
HP:0034345	Mendelian inheritance	200576	PIKFYVE	OMIM:121850
HP:0034345	Mendelian inheritance	6005	RHAG	OMIM:185000
HP:0034345	Mendelian inheritance	6005	RHAG	OMIM:268150
HP:0034345	Mendelian inheritance	8913	CACNA1G	OMIM:618087
HP:0034345	Mendelian inheritance	8913	CACNA1G	OMIM:616795
HP:0034345	Mendelian inheritance	64207	IRF2BPL	OMIM:618088
HP:0034345	Mendelian inheritance	80204	FBXO11	OMIM:618089
HP:0034345	Mendelian inheritance	23522	KAT6B	OMIM:606170
HP:0034345	Mendelian inheritance	23522	KAT6B	OMIM:603736
HP:0034345	Mendelian inheritance	9149	DYRK1B	OMIM:615812
HP:0034345	Mendelian inheritance	5015	OTX2	OMIM:610125
HP:0034345	Mendelian inheritance	5015	OTX2	OMIM:613986
HP:0034345	Mendelian inheritance	9499	MYOT	OMIM:609200
HP:0034345	Mendelian inheritance	64919	BCL11B	OMIM:618092
HP:0034345	Mendelian inheritance	64919	BCL11B	OMIM:617237
HP:0034345	Mendelian inheritance	6885	MAP3K7	OMIM:157800
HP:0034345	Mendelian inheritance	6885	MAP3K7	OMIM:617137
HP:0034345	Mendelian inheritance	55636	CHD7	OMIM:214800
HP:0034345	Mendelian inheritance	55636	CHD7	OMIM:612370
HP:0034345	Mendelian inheritance	27245	AHDC1	OMIM:615829
HP:0034345	Mendelian inheritance	6234	RPS28	OMIM:606164
HP:0034345	Mendelian inheritance	7168	TPM1	OMIM:115196
HP:0034345	Mendelian inheritance	7168	TPM1	OMIM:611878
HP:0034345	Mendelian inheritance	5566	PRKACA	OMIM:615830
HP:0034345	Mendelian inheritance	5566	PRKACA	OMIM:619142
HP:0034345	Mendelian inheritance	26053	AUTS2	OMIM:615834
HP:0034345	Mendelian inheritance	29914	UBIAD1	OMIM:121800
HP:0034345	Mendelian inheritance	799	CALCR	OMIM:166710
HP:0034345	Mendelian inheritance	8572	PDLIM4	OMIM:166710
HP:0034345	Mendelian inheritance	23095	KIF1B	OMIM:118210
HP:0034345	Mendelian inheritance	23095	KIF1B	OMIM:256700
HP:0034345	Mendelian inheritance	2736	GLI2	OMIM:615849
HP:0034345	Mendelian inheritance	2736	GLI2	OMIM:610829
HP:0034345	Mendelian inheritance	9992	KCNE2	OMIM:611493
HP:0034345	Mendelian inheritance	9992	KCNE2	OMIM:613693
HP:0034345	Mendelian inheritance	2146	EZH2	OMIM:277590
HP:0034345	Mendelian inheritance	7048	TGFBR2	OMIM:610168
HP:0034345	Mendelian inheritance	7048	TGFBR2	OMIM:614331
HP:0034345	Mendelian inheritance	50511	SYCP3	OMIM:270960
HP:0034345	Mendelian inheritance	80331	DNAJC5	OMIM:162350
HP:0034345	Mendelian inheritance	29123	ANKRD11	OMIM:148050
HP:0034345	Mendelian inheritance	2303	FOXC2	OMIM:153400
HP:0034345	Mendelian inheritance	6664	SOX11	OMIM:615866
HP:0034345	Mendelian inheritance	339453	TMEM240	OMIM:607454
HP:0034345	Mendelian inheritance	152137	CCDC50	OMIM:607453
HP:0034345	Mendelian inheritance	23592	LEMD3	OMIM:166700
HP:0034345	Mendelian inheritance	5979	RET	OMIM:162300
HP:0034345	Mendelian inheritance	5979	RET	OMIM:142623
HP:0034345	Mendelian inheritance	5979	RET	OMIM:171400
HP:0034345	Mendelian inheritance	5979	RET	OMIM:171300
HP:0034345	Mendelian inheritance	5979	RET	OMIM:155240
HP:0034345	Mendelian inheritance	348980	HCN1	OMIM:615871
HP:0034345	Mendelian inheritance	348980	HCN1	OMIM:618482
HP:0034345	Mendelian inheritance	7026	NR2F2	OMIM:618901
HP:0034345	Mendelian inheritance	7026	NR2F2	OMIM:615779
HP:0034345	Mendelian inheritance	240	ALOX5	OMIM:600807
HP:0034345	Mendelian inheritance	6356	CCL11	OMIM:600807
HP:0034345	Mendelian inheritance	7124	TNF	OMIM:600807
HP:0034345	Mendelian inheritance	7124	TNF	OMIM:157300
HP:0034345	Mendelian inheritance	4589	MUC7	OMIM:600807
HP:0034345	Mendelian inheritance	117156	SCGB3A2	OMIM:600807
HP:0034345	Mendelian inheritance	3135	HLA-G	OMIM:600807
HP:0034345	Mendelian inheritance	3596	IL13	OMIM:600807
HP:0034345	Mendelian inheritance	23394	ADNP	OMIM:615873
HP:0034345	Mendelian inheritance	1788	DNMT3A	OMIM:615879
HP:0034345	Mendelian inheritance	1788	DNMT3A	OMIM:618724
HP:0034345	Mendelian inheritance	1788	DNMT3A	OMIM:601626
HP:0034345	Mendelian inheritance	26115	TANC2	OMIM:618906
HP:0034345	Mendelian inheritance	5324	PLAG1	OMIM:618907
HP:0034345	Mendelian inheritance	5324	PLAG1	OMIM:181030
HP:0034345	Mendelian inheritance	8091	HMGA2	OMIM:618908
HP:0034345	Mendelian inheritance	724066	ATXN8	OMIM:608768
HP:0034345	Mendelian inheritance	6315	ATXN8OS	OMIM:608768
HP:0034345	Mendelian inheritance	6315	ATXN8OS	OMIM:168600
HP:0034345	Mendelian inheritance	1822	ATN1	OMIM:125370
HP:0034345	Mendelian inheritance	1822	ATN1	OMIM:618494
HP:0034345	Mendelian inheritance	6144	RPL21	OMIM:615885
HP:0034345	Mendelian inheritance	23291	FBXW11	OMIM:618914
HP:0034345	Mendelian inheritance	4893	NRAS	OMIM:613224
HP:0034345	Mendelian inheritance	4893	NRAS	OMIM:114500
HP:0034345	Mendelian inheritance	4893	NRAS	OMIM:614470
HP:0034345	Mendelian inheritance	4893	NRAS	OMIM:188470
HP:0034345	Mendelian inheritance	4363	ABCC1	OMIM:618915
HP:0034345	Mendelian inheritance	5048	PAFAH1B1	OMIM:607432
HP:0034345	Mendelian inheritance	114798	SLITRK1	OMIM:613229
HP:0034345	Mendelian inheritance	114798	SLITRK1	OMIM:137580
HP:0034345	Mendelian inheritance	23097	CDK19	OMIM:618916
HP:0034345	Mendelian inheritance	2891	GRIA2	OMIM:618917
HP:0034345	Mendelian inheritance	4131	MAP1B	OMIM:618918
HP:0034345	Mendelian inheritance	4131	MAP1B	OMIM:619808
HP:0034345	Mendelian inheritance	83872	HMCN1	OMIM:603075
HP:0034345	Mendelian inheritance	112802	KRT71	OMIM:615896
HP:0034345	Mendelian inheritance	6326	SCN2A	OMIM:618924
HP:0034345	Mendelian inheritance	6326	SCN2A	OMIM:613721
HP:0034345	Mendelian inheritance	6326	SCN2A	OMIM:607745
HP:0034345	Mendelian inheritance	1778	DYNC1H1	OMIM:614563
HP:0034345	Mendelian inheritance	1778	DYNC1H1	OMIM:614228
HP:0034345	Mendelian inheritance	1778	DYNC1H1	OMIM:158600
HP:0034345	Mendelian inheritance	64423	INF2	OMIM:613237
HP:0034345	Mendelian inheritance	64423	INF2	OMIM:614455
HP:0034345	Mendelian inheritance	100134444	KCNJ18	OMIM:613239
HP:0034345	Mendelian inheritance	25	ABL1	OMIM:617602
HP:0034345	Mendelian inheritance	56479	KCNQ5	OMIM:617601
HP:0034345	Mendelian inheritance	7134	TNNC1	OMIM:613243
HP:0034345	Mendelian inheritance	7134	TNNC1	OMIM:611879
HP:0034345	Mendelian inheritance	23152	CIC	OMIM:617600
HP:0034345	Mendelian inheritance	80736	SLC44A4	OMIM:617606
HP:0034345	Mendelian inheritance	401138	AMTN	OMIM:617607
HP:0034345	Mendelian inheritance	84172	POLR1B	OMIM:618939
HP:0034345	Mendelian inheritance	60	ACTB	OMIM:243310
HP:0034345	Mendelian inheritance	60	ACTB	OMIM:607371
HP:0034345	Mendelian inheritance	10755	GIPC1	OMIM:618940
HP:0034345	Mendelian inheritance	71	ACTG1	OMIM:614583
HP:0034345	Mendelian inheritance	71	ACTG1	OMIM:604717
HP:0034345	Mendelian inheritance	7414	VCL	OMIM:613255
HP:0034345	Mendelian inheritance	7414	VCL	OMIM:611407
HP:0034345	Mendelian inheritance	7249	TSC2	OMIM:613254
HP:0034345	Mendelian inheritance	80232	WDR26	OMIM:617616
HP:0034345	Mendelian inheritance	10699	CORIN	OMIM:614595
HP:0034345	Mendelian inheritance	2625	GATA3	OMIM:146255
HP:0034345	Mendelian inheritance	6925	TCF4	OMIM:613267
HP:0034345	Mendelian inheritance	6925	TCF4	OMIM:610954
HP:0034345	Mendelian inheritance	5978	REST	OMIM:617626
HP:0034345	Mendelian inheritance	5978	REST	OMIM:612431
HP:0034345	Mendelian inheritance	5978	REST	OMIM:616806
HP:0034345	Mendelian inheritance	9371	KIF3B	OMIM:618955
HP:0034345	Mendelian inheritance	9681	DEPDC5	OMIM:604364
HP:0034345	Mendelian inheritance	10137	RBM12	OMIM:617629
HP:0034345	Mendelian inheritance	1123	CHN1	OMIM:604356
HP:0034345	Mendelian inheritance	10274	STAG1	OMIM:617635
HP:0034345	Mendelian inheritance	10625	IVNS1ABP	OMIM:618969
HP:0034345	Mendelian inheritance	8864	PER2	OMIM:604348
HP:0034345	Mendelian inheritance	56916	SMARCAD1	OMIM:136000
HP:0034345	Mendelian inheritance	56916	SMARCAD1	OMIM:181600
HP:0034345	Mendelian inheritance	56916	SMARCAD1	OMIM:129200
HP:0034345	Mendelian inheritance	55553	SOX6	OMIM:618971
HP:0034345	Mendelian inheritance	3832	KIF11	OMIM:152950
HP:0034345	Mendelian inheritance	5087	PBX1	OMIM:617641
HP:0034345	Mendelian inheritance	84148	KAT8	OMIM:618974
HP:0034345	Mendelian inheritance	114902	C1QTNF5	OMIM:605670
HP:0034345	Mendelian inheritance	5274	SERPINI1	OMIM:604218
HP:0034345	Mendelian inheritance	6714	SRC	OMIM:114500
HP:0034345	Mendelian inheritance	6714	SRC	OMIM:616937
HP:0034345	Mendelian inheritance	10395	DLC1	OMIM:114500
HP:0034345	Mendelian inheritance	8313	AXIN2	OMIM:114500
HP:0034345	Mendelian inheritance	8313	AXIN2	OMIM:608615
HP:0034345	Mendelian inheritance	5782	PTPN12	OMIM:114500
HP:0034345	Mendelian inheritance	5320	PLA2G2A	OMIM:114500
HP:0034345	Mendelian inheritance	6790	AURKA	OMIM:114500
HP:0034345	Mendelian inheritance	581	BAX	OMIM:114500
HP:0034345	Mendelian inheritance	25788	RAD54B	OMIM:114500
HP:0034345	Mendelian inheritance	595	CCND1	OMIM:114500
HP:0034345	Mendelian inheritance	595	CCND1	OMIM:193300
HP:0034345	Mendelian inheritance	7097	TLR2	OMIM:114500
HP:0034345	Mendelian inheritance	7097	TLR2	OMIM:246300
HP:0034345	Mendelian inheritance	4163	MCC	OMIM:114500
HP:0034345	Mendelian inheritance	5157	PDGFRL	OMIM:114500
HP:0034345	Mendelian inheritance	5795	PTPRJ	OMIM:114500
HP:0034345	Mendelian inheritance	4287	ATXN3	OMIM:109150
HP:0034345	Mendelian inheritance	282996	RBM20	OMIM:613172
HP:0034345	Mendelian inheritance	5350	PLN	OMIM:609909
HP:0034345	Mendelian inheritance	5350	PLN	OMIM:613874
HP:0034345	Mendelian inheritance	85446	ZFHX2	OMIM:147430
HP:0034345	Mendelian inheritance	7277	TUBA4A	OMIM:616208
HP:0034345	Mendelian inheritance	3008	H1-4	OMIM:617537
HP:0034345	Mendelian inheritance	116931	MED12L	OMIM:618872
HP:0034345	Mendelian inheritance	387119	CEP85L	OMIM:618873
HP:0034345	Mendelian inheritance	2120	ETV6	OMIM:616216
HP:0034345	Mendelian inheritance	2120	ETV6	OMIM:601626
HP:0034345	Mendelian inheritance	10501	SEMA6B	OMIM:618876
HP:0034345	Mendelian inheritance	27102	EIF2AK1	OMIM:618878
HP:0034345	Mendelian inheritance	23022	PALLD	OMIM:606856
HP:0034345	Mendelian inheritance	7528	YY1	OMIM:617557
HP:0034345	Mendelian inheritance	8726	EED	OMIM:617561
HP:0034345	Mendelian inheritance	844	CASQ1	OMIM:616231
HP:0034345	Mendelian inheritance	2773	GNAI3	OMIM:602483
HP:0034345	Mendelian inheritance	2296	FOXC1	OMIM:602482
HP:0034345	Mendelian inheritance	2296	FOXC1	OMIM:601631
HP:0034345	Mendelian inheritance	610	HCN2	OMIM:602477
HP:0034345	Mendelian inheritance	805	CALM2	OMIM:616249
HP:0034345	Mendelian inheritance	801	CALM1	OMIM:616247
HP:0034345	Mendelian inheritance	801	CALM1	OMIM:614916
HP:0034345	Mendelian inheritance	4978	OPCML	OMIM:167000
HP:0034345	Mendelian inheritance	4040	LRP6	OMIM:610947
HP:0034345	Mendelian inheritance	4040	LRP6	OMIM:616724
HP:0034345	Mendelian inheritance	3859	KRT12	OMIM:122100
HP:0034345	Mendelian inheritance	7276	TTR	OMIM:145680
HP:0034345	Mendelian inheritance	7276	TTR	OMIM:105210
HP:0034345	Mendelian inheritance	7276	TTR	OMIM:115430
HP:0034345	Mendelian inheritance	5459	POU4F3	OMIM:602459
HP:0034345	Mendelian inheritance	54941	RNF125	OMIM:616260
HP:0034345	Mendelian inheritance	7994	KAT6A	OMIM:616268
HP:0034345	Mendelian inheritance	6683	SPAST	OMIM:182601
HP:0034345	Mendelian inheritance	51062	ATL1	OMIM:182600
HP:0034345	Mendelian inheritance	51062	ATL1	OMIM:613708
HP:0034345	Mendelian inheritance	387733	IFITM5	OMIM:610967
HP:0034345	Mendelian inheritance	255738	PCSK9	OMIM:603776
HP:0034345	Mendelian inheritance	146862	UNC45B	OMIM:616279
HP:0034345	Mendelian inheritance	146862	UNC45B	OMIM:619178
HP:0034345	Mendelian inheritance	5898	RALA	OMIM:619311
HP:0034345	Mendelian inheritance	23013	SPEN	OMIM:619312
HP:0034345	Mendelian inheritance	126129	CPT1C	OMIM:616282
HP:0034345	Mendelian inheritance	6477	SIAH1	OMIM:619314
HP:0034345	Mendelian inheritance	9620	CELSR1	OMIM:619319
HP:0034345	Mendelian inheritance	84699	CREB3L3	OMIM:619324
HP:0034345	Mendelian inheritance	29998	BICRA	OMIM:619325
HP:0034345	Mendelian inheritance	23586	RIGI	OMIM:616298
HP:0034345	Mendelian inheritance	23030	KDM4B	OMIM:619320
HP:0034345	Mendelian inheritance	5010	CLDN11	OMIM:619328
HP:0034345	Mendelian inheritance	1289	COL5A1	OMIM:619329
HP:0034345	Mendelian inheritance	1289	COL5A1	OMIM:130000
HP:0034345	Mendelian inheritance	23221	RHOBTB2	OMIM:618004
HP:0034345	Mendelian inheritance	5318	PKP2	OMIM:609040
HP:0034345	Mendelian inheritance	26999	CYFIP2	OMIM:618008
HP:0034345	Mendelian inheritance	9969	MED13	OMIM:618009
HP:0034345	Mendelian inheritance	2253	FGF8	OMIM:612702
HP:0034345	Mendelian inheritance	1019	CDK4	OMIM:609048
HP:0034345	Mendelian inheritance	27032	ATP2C1	OMIM:169600
HP:0034345	Mendelian inheritance	10845	CLPX	OMIM:618015
HP:0034345	Mendelian inheritance	4905	NSF	OMIM:619340
HP:0034345	Mendelian inheritance	5977	DPF2	OMIM:618027
HP:0034345	Mendelian inheritance	5457	POU4F1	OMIM:619352
HP:0034345	Mendelian inheritance	284	ANGPT1	OMIM:619361
HP:0034345	Mendelian inheritance	26509	MYOF	OMIM:619366
HP:0034345	Mendelian inheritance	64711	HS3ST6	OMIM:619367
HP:0034345	Mendelian inheritance	285	ANGPT2	OMIM:619369
HP:0034345	Mendelian inheritance	23154	NCDN	OMIM:619373
HP:0034345	Mendelian inheritance	4938	OAS1	OMIM:618042
HP:0034345	Mendelian inheritance	8651	SOCS1	OMIM:619375
HP:0034345	Mendelian inheritance	1984	EIF5A	OMIM:619376
HP:0034345	Mendelian inheritance	5076	PAX2	OMIM:120330
HP:0034345	Mendelian inheritance	5076	PAX2	OMIM:616002
HP:0034345	Mendelian inheritance	11011	TLK2	OMIM:618050
HP:0034345	Mendelian inheritance	6850	SYK	OMIM:619381
HP:0034345	Mendelian inheritance	23193	GANAB	OMIM:600666
HP:0034345	Mendelian inheritance	1066	CES1	OMIM:618057
HP:0034345	Mendelian inheritance	1312	COMT	OMIM:167870
HP:0034345	Mendelian inheritance	1312	COMT	OMIM:181500
HP:0034345	Mendelian inheritance	27183	VPS4A	OMIM:619273
HP:0034345	Mendelian inheritance	2077	ERF	OMIM:600775
HP:0034345	Mendelian inheritance	2077	ERF	OMIM:617180
HP:0034345	Mendelian inheritance	2131	EXT1	OMIM:133700
HP:0034345	Mendelian inheritance	7384	UQCRC1	OMIM:619279
HP:0034345	Mendelian inheritance	9782	MATR3	OMIM:606070
HP:0034345	Mendelian inheritance	2904	GRIN2B	OMIM:613970
HP:0034345	Mendelian inheritance	2904	GRIN2B	OMIM:616139
HP:0034345	Mendelian inheritance	3209	HOXA13	OMIM:140000
HP:0034345	Mendelian inheritance	3209	HOXA13	OMIM:176305
HP:0034345	Mendelian inheritance	3048	HBG2	OMIM:613977
HP:0034345	Mendelian inheritance	3048	HBG2	OMIM:141749
HP:0034345	Mendelian inheritance	2255	FGF10	OMIM:180920
HP:0034345	Mendelian inheritance	2255	FGF10	OMIM:620193
HP:0034345	Mendelian inheritance	24148	PRPF6	OMIM:613983
HP:0034345	Mendelian inheritance	3759	KCNJ2	OMIM:613980
HP:0034345	Mendelian inheritance	3759	KCNJ2	OMIM:609622
HP:0034345	Mendelian inheritance	3759	KCNJ2	OMIM:170390
HP:0034345	Mendelian inheritance	6507	SLC1A3	OMIM:612656
HP:0034345	Mendelian inheritance	30061	SLC40A1	OMIM:606069
HP:0034345	Mendelian inheritance	64601	VPS16	OMIM:619291
HP:0034345	Mendelian inheritance	26277	TINF2	OMIM:613990
HP:0034345	Mendelian inheritance	26277	TINF2	OMIM:127550
HP:0034345	Mendelian inheritance	26277	TINF2	OMIM:268130
HP:0034345	Mendelian inheritance	3899	AFF3	OMIM:619297
HP:0034345	Mendelian inheritance	7132	TNFRSF1A	OMIM:142680
HP:0034345	Mendelian inheritance	10716	TBR1	OMIM:606053
HP:0034345	Mendelian inheritance	1175	AP2S1	OMIM:600740
HP:0034345	Mendelian inheritance	6262	RYR2	OMIM:115000
HP:0034345	Mendelian inheritance	6262	RYR2	OMIM:604772
HP:0034345	Mendelian inheritance	659	BMPR2	OMIM:178600
HP:0034345	Mendelian inheritance	659	BMPR2	OMIM:265450
HP:0034345	Mendelian inheritance	374393	FAM111B	OMIM:615704
HP:0034345	Mendelian inheritance	2702	GJA5	OMIM:108770
HP:0034345	Mendelian inheritance	2702	GJA5	OMIM:612474
HP:0034345	Mendelian inheritance	2702	GJA5	OMIM:614049
HP:0034345	Mendelian inheritance	347733	TUBB2B	OMIM:610031
HP:0034345	Mendelian inheritance	57057	TBX20	OMIM:611363
HP:0034345	Mendelian inheritance	7025	NR2F1	OMIM:615722
HP:0034345	Mendelian inheritance	3854	KRT6B	OMIM:615728
HP:0034345	Mendelian inheritance	3853	KRT6A	OMIM:615726
HP:0034345	Mendelian inheritance	2626	GATA4	OMIM:187500
HP:0034345	Mendelian inheritance	2626	GATA4	OMIM:614429
HP:0034345	Mendelian inheritance	2626	GATA4	OMIM:614430
HP:0034345	Mendelian inheritance	2626	GATA4	OMIM:607941
HP:0034345	Mendelian inheritance	2626	GATA4	OMIM:615542
HP:0034345	Mendelian inheritance	23414	ZFPM2	OMIM:187500
HP:0034345	Mendelian inheritance	23414	ZFPM2	OMIM:616067
HP:0034345	Mendelian inheritance	10984	KCNQ1OT1	OMIM:130650
HP:0034345	Mendelian inheritance	286887	KRT6C	OMIM:615735
HP:0034345	Mendelian inheritance	1634	DCN	OMIM:610048
HP:0034345	Mendelian inheritance	63901	FAM111A	OMIM:127000
HP:0034345	Mendelian inheritance	63901	FAM111A	OMIM:602361
HP:0034345	Mendelian inheritance	26353	HSPB8	OMIM:608673
HP:0034345	Mendelian inheritance	26353	HSPB8	OMIM:158590
HP:0034345	Mendelian inheritance	2737	GLI3	OMIM:174200
HP:0034345	Mendelian inheritance	2737	GLI3	OMIM:175700
HP:0034345	Mendelian inheritance	2737	GLI3	OMIM:174700
HP:0034345	Mendelian inheritance	2737	GLI3	OMIM:146510
HP:0034345	Mendelian inheritance	2554	GABRA1	OMIM:615744
HP:0034345	Mendelian inheritance	4846	NOS3	OMIM:104300
HP:0034345	Mendelian inheritance	4846	NOS3	OMIM:189800
HP:0034345	Mendelian inheritance	5328	PLAU	OMIM:104300
HP:0034345	Mendelian inheritance	5328	PLAU	OMIM:601709
HP:0034345	Mendelian inheritance	57167	SALL4	OMIM:607323
HP:0034345	Mendelian inheritance	57167	SALL4	OMIM:147750
HP:0034345	Mendelian inheritance	55209	SETD5	OMIM:615761
HP:0034345	Mendelian inheritance	10370	CITED2	OMIM:614433
HP:0034345	Mendelian inheritance	10370	CITED2	OMIM:614431
HP:0034345	Mendelian inheritance	7280	TUBB2A	OMIM:615763
HP:0034345	Mendelian inheritance	5156	PDGFRA	OMIM:175510
HP:0034345	Mendelian inheritance	2672	GFI1	OMIM:613107
HP:0034345	Mendelian inheritance	2672	GFI1	OMIM:607847
HP:0034345	Mendelian inheritance	3315	HSPB1	OMIM:608634
HP:0034345	Mendelian inheritance	3315	HSPB1	OMIM:606595
HP:0034345	Mendelian inheritance	463	ZFHX3	OMIM:176807
HP:0034345	Mendelian inheritance	5728	PTEN	OMIM:176807
HP:0034345	Mendelian inheritance	5728	PTEN	OMIM:607174
HP:0034345	Mendelian inheritance	5728	PTEN	OMIM:605309
HP:0034345	Mendelian inheritance	5728	PTEN	OMIM:158350
HP:0034345	Mendelian inheritance	1316	KLF6	OMIM:176807
HP:0034345	Mendelian inheritance	4601	MXI1	OMIM:176807
HP:0034345	Mendelian inheritance	8379	MAD1L1	OMIM:176807
HP:0034345	Mendelian inheritance	203068	TUBB	OMIM:615771
HP:0034345	Mendelian inheritance	203068	TUBB	OMIM:156610
HP:0034345	Mendelian inheritance	81027	TUBB1	OMIM:613112
HP:0034345	Mendelian inheritance	3273	HRG	OMIM:613116
HP:0034345	Mendelian inheritance	10008	KCNE3	OMIM:613119
HP:0034345	Mendelian inheritance	9217	VAPB	OMIM:608627
HP:0034345	Mendelian inheritance	9217	VAPB	OMIM:182980
HP:0034345	Mendelian inheritance	7067	THRA	OMIM:614450
HP:0034345	Mendelian inheritance	55800	SCN3B	OMIM:613120
HP:0034345	Mendelian inheritance	91624	NEXN	OMIM:613122
HP:0034345	Mendelian inheritance	91624	NEXN	OMIM:613876
HP:0034345	Mendelian inheritance	3860	KRT13	OMIM:615785
HP:0034345	Mendelian inheritance	1834	DSPP	OMIM:605594
HP:0034345	Mendelian inheritance	1834	DSPP	OMIM:125500
HP:0034345	Mendelian inheritance	1834	DSPP	OMIM:125420
HP:0034345	Mendelian inheritance	1834	DSPP	OMIM:125490
HP:0034345	Mendelian inheritance	9493	KIF23	OMIM:105600
HP:0034345	Mendelian inheritance	6628	SNRPB	OMIM:117650
HP:0034345	Mendelian inheritance	29894	CPSF1	OMIM:618827
HP:0034345	Mendelian inheritance	4659	PPP1R12A	OMIM:618820
HP:0034345	Mendelian inheritance	5336	PLCG2	OMIM:614468
HP:0034345	Mendelian inheritance	5336	PLCG2	OMIM:614878
HP:0034345	Mendelian inheritance	246213	SLC17A8	OMIM:605583
HP:0034345	Mendelian inheritance	8405	SPOP	OMIM:618828
HP:0034345	Mendelian inheritance	8405	SPOP	OMIM:618829
HP:0034345	Mendelian inheritance	22871	NLGN1	OMIM:618830
HP:0034345	Mendelian inheritance	5500	PPP1CB	OMIM:617506
HP:0034345	Mendelian inheritance	9739	SETD1A	OMIM:618832
HP:0034345	Mendelian inheritance	9739	SETD1A	OMIM:619056
HP:0034345	Mendelian inheritance	10210	TOPORS	OMIM:609923
HP:0034345	Mendelian inheritance	79625	NDNF	OMIM:618841
HP:0034345	Mendelian inheritance	1284	COL4A2	OMIM:614483
HP:0034345	Mendelian inheritance	7431	VIM	OMIM:116300
HP:0034345	Mendelian inheritance	51780	KDM3B	OMIM:618846
HP:0034345	Mendelian inheritance	4194	MDM4	OMIM:618849
HP:0034345	Mendelian inheritance	5718	PSMD12	OMIM:617516
HP:0034345	Mendelian inheritance	166929	SGMS2	OMIM:126550
HP:0034345	Mendelian inheritance	6223	RPS19	OMIM:105650
HP:0034345	Mendelian inheritance	5664	PSEN2	OMIM:606889
HP:0034345	Mendelian inheritance	5664	PSEN2	OMIM:613697
HP:0034345	Mendelian inheritance	65266	WNK4	OMIM:614491
HP:0034345	Mendelian inheritance	23001	WDFY3	OMIM:617520
HP:0034345	Mendelian inheritance	8452	CUL3	OMIM:614496
HP:0034345	Mendelian inheritance	8452	CUL3	OMIM:619239
HP:0034345	Mendelian inheritance	127534	GJB4	OMIM:617524
HP:0034345	Mendelian inheritance	4858	NOVA2	OMIM:618859
HP:0034345	Mendelian inheritance	401474	SAMD12	OMIM:601068
HP:0034345	Mendelian inheritance	1024	CDK8	OMIM:618748
HP:0034345	Mendelian inheritance	6228	RPS23	OMIM:617412
HP:0034345	Mendelian inheritance	2563	GABRD	OMIM:613060
HP:0034345	Mendelian inheritance	308	ANXA5	OMIM:614391
HP:0034345	Mendelian inheritance	407053	MIR96	OMIM:613074
HP:0034345	Mendelian inheritance	6844	VAMP2	OMIM:618760
HP:0034345	Mendelian inheritance	130340	AP1S3	OMIM:616106
HP:0034345	Mendelian inheritance	7852	CXCR4	OMIM:193670
HP:0034345	Mendelian inheritance	4091	SMAD6	OMIM:617439
HP:0034345	Mendelian inheritance	4091	SMAD6	OMIM:179300
HP:0034345	Mendelian inheritance	4091	SMAD6	OMIM:614823
HP:0034345	Mendelian inheritance	3850	KRT3	OMIM:618767
HP:0034345	Mendelian inheritance	4330	MN1	OMIM:618774
HP:0034345	Mendelian inheritance	4330	MN1	OMIM:607174
HP:0034345	Mendelian inheritance	7092	TLL1	OMIM:613087
HP:0034345	Mendelian inheritance	51086	TNNI3K	OMIM:616117
HP:0034345	Mendelian inheritance	58484	NLRC4	OMIM:616115
HP:0034345	Mendelian inheritance	58484	NLRC4	OMIM:616050
HP:0034345	Mendelian inheritance	8295	TRRAP	OMIM:618778
HP:0034345	Mendelian inheritance	8295	TRRAP	OMIM:618454
HP:0034345	Mendelian inheritance	2201	FBN2	OMIM:616118
HP:0034345	Mendelian inheritance	2201	FBN2	OMIM:121050
HP:0034345	Mendelian inheritance	6602	SMARCD1	OMIM:618779
HP:0034345	Mendelian inheritance	57822	GRHL3	OMIM:606713
HP:0034345	Mendelian inheritance	10019	SH2B3	OMIM:133100
HP:0034345	Mendelian inheritance	10019	SH2B3	OMIM:187950
HP:0034345	Mendelian inheritance	2057	EPOR	OMIM:133100
HP:0034345	Mendelian inheritance	5311	PKD2	OMIM:613095
HP:0034345	Mendelian inheritance	5034	P4HB	OMIM:112240
HP:0034345	Mendelian inheritance	23512	SUZ12	OMIM:618786
HP:0034345	Mendelian inheritance	1969	EPHA2	OMIM:116600
HP:0034345	Mendelian inheritance	5663	PSEN1	OMIM:172700
HP:0034345	Mendelian inheritance	5663	PSEN1	OMIM:613737
HP:0034345	Mendelian inheritance	5663	PSEN1	OMIM:607822
HP:0034345	Mendelian inheritance	5663	PSEN1	OMIM:613694
HP:0034345	Mendelian inheritance	5663	PSEN1	OMIM:600274
HP:0034345	Mendelian inheritance	808	CALM3	OMIM:618782
HP:0034345	Mendelian inheritance	5357	PLS1	OMIM:618787
HP:0034345	Mendelian inheritance	5727	PTCH1	OMIM:610828
HP:0034345	Mendelian inheritance	5727	PTCH1	OMIM:109400
HP:0034345	Mendelian inheritance	79718	TBL1XR1	OMIM:602342
HP:0034345	Mendelian inheritance	79718	TBL1XR1	OMIM:616944
HP:0034345	Mendelian inheritance	715	C1R	OMIM:130080
HP:0034345	Mendelian inheritance	51339	DACT1	OMIM:617466
HP:0034345	Mendelian inheritance	1742	DLG4	OMIM:618793
HP:0034345	Mendelian inheritance	775	CACNA1C	OMIM:601005
HP:0034345	Mendelian inheritance	775	CACNA1C	OMIM:620029
HP:0034345	Mendelian inheritance	775	CACNA1C	OMIM:618447
HP:0034345	Mendelian inheritance	775	CACNA1C	OMIM:611875
HP:0034345	Mendelian inheritance	25836	NIPBL	OMIM:122470
HP:0034345	Mendelian inheritance	2516	NR5A1	OMIM:617480
HP:0034345	Mendelian inheritance	2516	NR5A1	OMIM:613957
HP:0034345	Mendelian inheritance	3617	IMPG1	OMIM:616151
HP:0034345	Mendelian inheritance	3617	IMPG1	OMIM:153870
HP:0034345	Mendelian inheritance	5813	PURA	OMIM:616158
HP:0034345	Mendelian inheritance	4175	MCM6	OMIM:223100
HP:0034345	Mendelian inheritance	22999	RIMS1	OMIM:603649
HP:0034345	Mendelian inheritance	2775	GNAO1	OMIM:617493
HP:0034345	Mendelian inheritance	2775	GNAO1	OMIM:615473
HP:0034345	Mendelian inheritance	8076	MFAP5	OMIM:616166
HP:0034345	Mendelian inheritance	89884	LHX4	OMIM:262700
HP:0034345	Mendelian inheritance	7415	VCP	OMIM:167320
HP:0034345	Mendelian inheritance	7415	VCP	OMIM:613954
HP:0034345	Mendelian inheritance	7415	VCP	OMIM:616687
HP:0034345	Mendelian inheritance	57216	VANGL2	OMIM:182940
HP:0034345	Mendelian inheritance	6347	CCL2	OMIM:182940
HP:0034345	Mendelian inheritance	80199	FUZ	OMIM:182940
HP:0034345	Mendelian inheritance	7681	MKRN3	OMIM:176270
HP:0034345	Mendelian inheritance	3653	IPW	OMIM:176270
HP:0034345	Mendelian inheritance	54551	MAGEL2	OMIM:176270
HP:0034345	Mendelian inheritance	54551	MAGEL2	OMIM:615547
HP:0034345	Mendelian inheritance	791114	PWRN1	OMIM:176270
HP:0034345	Mendelian inheritance	100033413	SNORD116-1	OMIM:176270
HP:0034345	Mendelian inheritance	145624	PWAR1	OMIM:176270
HP:0034345	Mendelian inheritance	23742	NPAP1	OMIM:176270
HP:0034345	Mendelian inheritance	338433	SNORD115-1	OMIM:176270
HP:0034345	Mendelian inheritance	112755	STX1B	OMIM:616172
HP:0034345	Mendelian inheritance	6092	ROBO2	OMIM:610878
HP:0034345	Mendelian inheritance	343641	TGM6	OMIM:613908
HP:0034345	Mendelian inheritance	486	FXYD2	OMIM:154020
HP:0034345	Mendelian inheritance	3746	KCNC1	OMIM:616187
HP:0034345	Mendelian inheritance	219972	MPEG1	OMIM:619223
HP:0034345	Mendelian inheritance	4613	MYCN	OMIM:164280
HP:0034345	Mendelian inheritance	51729	WBP11	OMIM:619227
HP:0034345	Mendelian inheritance	6304	SATB1	OMIM:619228
HP:0034345	Mendelian inheritance	6304	SATB1	OMIM:619229
HP:0034345	Mendelian inheritance	147912	SIX5	OMIM:610896
HP:0034345	Mendelian inheritance	84196	USP48	OMIM:620227
HP:0034345	Mendelian inheritance	80036	TRPM3	OMIM:620224
HP:0034345	Mendelian inheritance	80036	TRPM3	OMIM:620253
HP:0034345	Mendelian inheritance	23112	TNRC6B	OMIM:619243
HP:0034345	Mendelian inheritance	6508	SLC4A3	OMIM:620231
HP:0034345	Mendelian inheritance	2700	GJA3	OMIM:601885
HP:0034345	Mendelian inheritance	1290	COL5A2	OMIM:130010
HP:0034345	Mendelian inheritance	55605	KIF21A	OMIM:135700
HP:0034345	Mendelian inheritance	8831	SYNGAP1	OMIM:612621
HP:0034345	Mendelian inheritance	7716	VEZF1	OMIM:620247
HP:0034345	Mendelian inheritance	6532	SLC6A4	OMIM:164230
HP:0034345	Mendelian inheritance	3356	HTR2A	OMIM:164230
HP:0034345	Mendelian inheritance	3356	HTR2A	OMIM:181500
HP:0034345	Mendelian inheritance	112744	IL17F	OMIM:613956
HP:0034345	Mendelian inheritance	256472	TMEM151A	OMIM:620245
HP:0034345	Mendelian inheritance	133396	IL31RA	OMIM:613955
HP:0034345	Mendelian inheritance	81615	TMEM163	OMIM:620243
HP:0034345	Mendelian inheritance	6599	SMARCC1	OMIM:620241
HP:0034345	Mendelian inheritance	2767	GNA11	OMIM:145981
HP:0034345	Mendelian inheritance	2767	GNA11	OMIM:615361
HP:0034345	Mendelian inheritance	2747	GLUD2	OMIM:168600
HP:0034345	Mendelian inheritance	126	ADH1C	OMIM:168600
HP:0034345	Mendelian inheritance	4929	NR4A2	OMIM:168600
HP:0034345	Mendelian inheritance	4929	NR4A2	OMIM:619911
HP:0034345	Mendelian inheritance	6908	TBP	OMIM:168600
HP:0034345	Mendelian inheritance	6908	TBP	OMIM:607136
HP:0034345	Mendelian inheritance	9627	SNCAIP	OMIM:168600
HP:0034345	Mendelian inheritance	6605	SMARCE1	OMIM:607174
HP:0034345	Mendelian inheritance	6605	SMARCE1	OMIM:616938
HP:0034345	Mendelian inheritance	5155	PDGFB	OMIM:607174
HP:0034345	Mendelian inheritance	5155	PDGFB	OMIM:213600
HP:0034345	Mendelian inheritance	5155	PDGFB	OMIM:615483
HP:0034345	Mendelian inheritance	79784	MYH14	OMIM:600652
HP:0034345	Mendelian inheritance	79784	MYH14	OMIM:614369
HP:0034345	Mendelian inheritance	26960	NBEA	OMIM:619157
HP:0034345	Mendelian inheritance	2776	GNAQ	OMIM:163000
HP:0034345	Mendelian inheritance	6165	RPL35A	OMIM:612528
HP:0034345	Mendelian inheritance	6218	RPS17	OMIM:612527
HP:0034345	Mendelian inheritance	51343	FZR1	OMIM:620145
HP:0034345	Mendelian inheritance	10093	ARPC4	OMIM:620141
HP:0034345	Mendelian inheritance	4016	LOXL1	OMIM:177650
HP:0034345	Mendelian inheritance	29072	SETD2	OMIM:620157
HP:0034345	Mendelian inheritance	29072	SETD2	OMIM:620155
HP:0034345	Mendelian inheritance	29072	SETD2	OMIM:616831
HP:0034345	Mendelian inheritance	4884	NPTX1	OMIM:620158
HP:0034345	Mendelian inheritance	58528	RRAGD	OMIM:620152
HP:0034345	Mendelian inheritance	7125	TNNC2	OMIM:620161
HP:0034345	Mendelian inheritance	1185	CLCN6	OMIM:619173
HP:0034345	Mendelian inheritance	6452	SH3BP2	OMIM:118400
HP:0034345	Mendelian inheritance	10381	TUBB3	OMIM:600638
HP:0034345	Mendelian inheritance	10381	TUBB3	OMIM:614039
HP:0034345	Mendelian inheritance	1889	ECE1	OMIM:613870
HP:0034345	Mendelian inheritance	5346	PLIN1	OMIM:613877
HP:0034345	Mendelian inheritance	29967	LRP12	OMIM:164310
HP:0034345	Mendelian inheritance	64127	NOD2	OMIM:186580
HP:0034345	Mendelian inheritance	23036	ZNF292	OMIM:619188
HP:0034345	Mendelian inheritance	342618	SLFN14	OMIM:616913
HP:0034345	Mendelian inheritance	9096	TBX18	OMIM:143400
HP:0034345	Mendelian inheritance	53834	FGFRL1	OMIM:194190
HP:0034345	Mendelian inheritance	1487	CTBP1	OMIM:194190
HP:0034345	Mendelian inheritance	1487	CTBP1	OMIM:617915
HP:0034345	Mendelian inheritance	2259	FGF14	OMIM:620174
HP:0034345	Mendelian inheritance	2259	FGF14	OMIM:193003
HP:0034345	Mendelian inheritance	1471	CST3	OMIM:105150
HP:0034345	Mendelian inheritance	5307	PITX1	OMIM:186550
HP:0034345	Mendelian inheritance	5307	PITX1	OMIM:119800
HP:0034345	Mendelian inheritance	6135	RPL11	OMIM:612562
HP:0034345	Mendelian inheritance	6125	RPL5	OMIM:612561
HP:0034345	Mendelian inheritance	6201	RPS7	OMIM:612563
HP:0034345	Mendelian inheritance	8085	KMT2D	OMIM:620186
HP:0034345	Mendelian inheritance	8085	KMT2D	OMIM:147920
HP:0034345	Mendelian inheritance	11146	GLMN	OMIM:138000
HP:0034345	Mendelian inheritance	1962	EHHADH	OMIM:615605
HP:0034345	Mendelian inheritance	8106	PABPN1	OMIM:164300
HP:0034345	Mendelian inheritance	1013	CDH15	OMIM:612580
HP:0034345	Mendelian inheritance	29119	CTNNA3	OMIM:615616
HP:0034345	Mendelian inheritance	5424	POLD1	OMIM:612591
HP:0034345	Mendelian inheritance	5424	POLD1	OMIM:615381
HP:0034345	Mendelian inheritance	3371	TNC	OMIM:615629
HP:0034345	Mendelian inheritance	3640	INSL3	OMIM:219050
HP:0034345	Mendelian inheritance	3798	KIF5A	OMIM:604187
HP:0034345	Mendelian inheritance	3798	KIF5A	OMIM:617235
HP:0034345	Mendelian inheritance	3798	KIF5A	OMIM:617921
HP:0034345	Mendelian inheritance	2934	GSN	OMIM:105120
HP:0034345	Mendelian inheritance	25923	ATL3	OMIM:615632
HP:0034345	Mendelian inheritance	4171	MCM2	OMIM:616968
HP:0034345	Mendelian inheritance	406960	MIR184	OMIM:614303
HP:0034345	Mendelian inheritance	3067	HDC	OMIM:137580
HP:0034345	Mendelian inheritance	8763	CD164	OMIM:616969
HP:0034345	Mendelian inheritance	1837	DTNA	OMIM:604169
HP:0034345	Mendelian inheritance	53630	BCO1	OMIM:115300
HP:0034345	Mendelian inheritance	473	RERE	OMIM:616975
HP:0034345	Mendelian inheritance	2782	GNB1	OMIM:616973
HP:0034345	Mendelian inheritance	3097	HIVEP2	OMIM:616977
HP:0034345	Mendelian inheritance	8314	BAP1	OMIM:614327
HP:0034345	Mendelian inheritance	8314	BAP1	OMIM:606661
HP:0034345	Mendelian inheritance	8314	BAP1	OMIM:619762
HP:0034345	Mendelian inheritance	7050	TGIF1	OMIM:142946
HP:0034345	Mendelian inheritance	4507	MTAP	OMIM:112250
HP:0034345	Mendelian inheritance	3868	KRT16	OMIM:613000
HP:0034345	Mendelian inheritance	3868	KRT16	OMIM:167200
HP:0034345	Mendelian inheritance	121278	TPH2	OMIM:613003
HP:0034345	Mendelian inheritance	1816	DRD5	OMIM:606798
HP:0034345	Mendelian inheritance	1816	DRD5	OMIM:143465
HP:0034345	Mendelian inheritance	8929	PHOX2B	OMIM:613013
HP:0034345	Mendelian inheritance	8929	PHOX2B	OMIM:209880
HP:0034345	Mendelian inheritance	286077	FAM83H	OMIM:130900
HP:0034345	Mendelian inheritance	54583	EGLN1	OMIM:609820
HP:0034345	Mendelian inheritance	8936	WASF1	OMIM:618707
HP:0034345	Mendelian inheritance	28514	DLL1	OMIM:618709
HP:0034345	Mendelian inheritance	1056	CEL	OMIM:609812
HP:0034345	Mendelian inheritance	1786	DNMT1	OMIM:604121
HP:0034345	Mendelian inheritance	1786	DNMT1	OMIM:614116
HP:0034345	Mendelian inheritance	9516	LITAF	OMIM:601098
HP:0034345	Mendelian inheritance	93649	MYOCD	OMIM:618719
HP:0034345	Mendelian inheritance	4014	LORICRIN	OMIM:604117
HP:0034345	Mendelian inheritance	51317	PHF21A	OMIM:618725
HP:0034345	Mendelian inheritance	6137	RPL13	OMIM:618728
HP:0034345	Mendelian inheritance	646	BNC1	OMIM:618723
HP:0034345	Mendelian inheritance	3659	IRF1	OMIM:211980
HP:0034345	Mendelian inheritance	1548	CYP2A6	OMIM:211980
HP:0034345	Mendelian inheritance	1548	CYP2A6	OMIM:122700
HP:0034345	Mendelian inheritance	356	FASLG	OMIM:211980
HP:0034345	Mendelian inheritance	356	FASLG	OMIM:601859
HP:0034345	Mendelian inheritance	5519	PPP2R1B	OMIM:211980
HP:0034345	Mendelian inheritance	1326	MAP3K8	OMIM:211980
HP:0034345	Mendelian inheritance	6496	SIX3	OMIM:157170
HP:0034345	Mendelian inheritance	6910	TBX5	OMIM:142900
HP:0034345	Mendelian inheritance	6391	SDHC	OMIM:606764
HP:0034345	Mendelian inheritance	6391	SDHC	OMIM:605373
HP:0034345	Mendelian inheritance	3815	KIT	OMIM:606764
HP:0034345	Mendelian inheritance	3815	KIT	OMIM:154800
HP:0034345	Mendelian inheritance	3815	KIT	OMIM:172800
HP:0034345	Mendelian inheritance	3815	KIT	OMIM:601626
HP:0034345	Mendelian inheritance	116369	SLC26A8	OMIM:606766
HP:0034345	Mendelian inheritance	4153	MBL2	OMIM:614372
HP:0034345	Mendelian inheritance	10654	PMVK	OMIM:175800
HP:0034345	Mendelian inheritance	7545	ZIC1	OMIM:618736
HP:0034345	Mendelian inheritance	7545	ZIC1	OMIM:616602
HP:0034345	Mendelian inheritance	1460	CSNK2B	OMIM:618732
HP:0034345	Mendelian inheritance	6155	RPL27	OMIM:617408
HP:0034345	Mendelian inheritance	8449	DHX16	OMIM:618733
HP:0034345	Mendelian inheritance	2746	GLUD1	OMIM:606762
HP:0034345	Mendelian inheritance	3207	HOXA11	OMIM:605432
HP:0034345	Mendelian inheritance	6232	RPS27	OMIM:617409
HP:0034345	Mendelian inheritance	735	C9	OMIM:615591
HP:0034345	Mendelian inheritance	8367	H4C5	OMIM:619950
HP:0034345	Mendelian inheritance	8294	H4C9	OMIM:619951
HP:0034345	Mendelian inheritance	63036	CELA2A	OMIM:618620
HP:0034345	Mendelian inheritance	55654	TMEM127	OMIM:171300
HP:0034345	Mendelian inheritance	4149	MAX	OMIM:171300
HP:0034345	Mendelian inheritance	10054	UBA2	OMIM:619959
HP:0034345	Mendelian inheritance	22800	RRAS2	OMIM:618624
HP:0034345	Mendelian inheritance	6720	SREBF1	OMIM:158310
HP:0034345	Mendelian inheritance	6720	SREBF1	OMIM:619016
HP:0034345	Mendelian inheritance	101060691	NUTM2B-AS1	OMIM:618637
HP:0034345	Mendelian inheritance	79577	CDC73	OMIM:145000
HP:0034345	Mendelian inheritance	79577	CDC73	OMIM:145001
HP:0034345	Mendelian inheritance	79577	CDC73	OMIM:608266
HP:0034345	Mendelian inheritance	2670	GFAP	OMIM:203450
HP:0034345	Mendelian inheritance	10565	ARFGEF1	OMIM:619964
HP:0034345	Mendelian inheritance	8930	MBD4	OMIM:619975
HP:0034345	Mendelian inheritance	8930	MBD4	OMIM:606660
HP:0034345	Mendelian inheritance	7123	CLEC3B	OMIM:619977
HP:0034345	Mendelian inheritance	652	BMP4	OMIM:607932
HP:0034345	Mendelian inheritance	22884	WDR37	OMIM:618652
HP:0034345	Mendelian inheritance	1656	DDX6	OMIM:618653
HP:0034345	Mendelian inheritance	57178	ZMIZ1	OMIM:618659
HP:0034345	Mendelian inheritance	3782	KCNN3	OMIM:618658
HP:0034345	Mendelian inheritance	25794	FSCN2	OMIM:607921
HP:0034345	Mendelian inheritance	253738	EBF3	OMIM:617330
HP:0034345	Mendelian inheritance	7862	BRPF1	OMIM:617333
HP:0034345	Mendelian inheritance	126695	KDF1	OMIM:617337
HP:0034345	Mendelian inheritance	389692	MAFA	OMIM:147630
HP:0034345	Mendelian inheritance	131405	TRIM71	OMIM:618667
HP:0034345	Mendelian inheritance	6638	SNRPN	OMIM:105830
HP:0034345	Mendelian inheritance	7337	UBE3A	OMIM:105830
HP:0034345	Mendelian inheritance	26137	ZBTB20	OMIM:259050
HP:0034345	Mendelian inheritance	55596	ZCCHC8	OMIM:618674
HP:0034345	Mendelian inheritance	4849	CNOT3	OMIM:618672
HP:0034345	Mendelian inheritance	3835	KIF22	OMIM:603546
HP:0034345	Mendelian inheritance	285282	RABL3	OMIM:618680
HP:0034345	Mendelian inheritance	4851	NOTCH1	OMIM:616028
HP:0034345	Mendelian inheritance	4851	NOTCH1	OMIM:109730
HP:0034345	Mendelian inheritance	9725	TMEM63A	OMIM:618688
HP:0034345	Mendelian inheritance	4488	MSX2	OMIM:168550
HP:0034345	Mendelian inheritance	4488	MSX2	OMIM:168500
HP:0034345	Mendelian inheritance	4488	MSX2	OMIM:604757
HP:0034345	Mendelian inheritance	54443	ANLN	OMIM:616032
HP:0034345	Mendelian inheritance	8621	CDK13	OMIM:617360
HP:0034345	Mendelian inheritance	5310	PKD1	OMIM:173900
HP:0034345	Mendelian inheritance	5587	PRKD1	OMIM:617364
HP:0034345	Mendelian inheritance	2302	FOXJ1	OMIM:618699
HP:0034345	Mendelian inheritance	10049	DNAJB6	OMIM:603511
HP:0034345	Mendelian inheritance	25814	ATXN10	OMIM:603516
HP:0034345	Mendelian inheritance	3745	KCNB1	OMIM:616056
HP:0034345	Mendelian inheritance	23780	APOL2	OMIM:181500
HP:0034345	Mendelian inheritance	267012	DAOA	OMIM:181500
HP:0034345	Mendelian inheritance	6854	SYN2	OMIM:181500
HP:0034345	Mendelian inheritance	27184	DISC2	OMIM:181500
HP:0034345	Mendelian inheritance	65078	RTN4R	OMIM:181500
HP:0034345	Mendelian inheritance	80832	APOL4	OMIM:181500
HP:0034345	Mendelian inheritance	1116	CHI3L1	OMIM:181500
HP:0034345	Mendelian inheritance	1027	CDKN1B	OMIM:610755
HP:0034345	Mendelian inheritance	9126	SMC3	OMIM:610759
HP:0034345	Mendelian inheritance	3192	HNRNPU	OMIM:617391
HP:0034345	Mendelian inheritance	63910	SLC17A9	OMIM:616063
HP:0034345	Mendelian inheritance	112939	NACC1	OMIM:617393
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:190440
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:166250
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:147950
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:123150
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:615465
HP:0034345	Mendelian inheritance	2260	FGFR1	OMIM:101600
HP:0034345	Mendelian inheritance	10524	KAT5	OMIM:619103
HP:0034345	Mendelian inheritance	9445	ITM2B	OMIM:616079
HP:0034345	Mendelian inheritance	9445	ITM2B	OMIM:117300
HP:0034345	Mendelian inheritance	9445	ITM2B	OMIM:176500
HP:0034345	Mendelian inheritance	10771	ZMYND11	OMIM:616083
HP:0034345	Mendelian inheritance	1300	COL10A1	OMIM:156500
HP:0034345	Mendelian inheritance	3839	KPNA3	OMIM:620106
HP:0034345	Mendelian inheritance	80320	SP6	OMIM:620104
HP:0034345	Mendelian inheritance	7078	TIMP3	OMIM:136900
HP:0034345	Mendelian inheritance	6253	RTN2	OMIM:604805
HP:0034345	Mendelian inheritance	10220	GDF11	OMIM:619122
HP:0034345	Mendelian inheritance	23031	MAST3	OMIM:620115
HP:0034345	Mendelian inheritance	8911	CACNA1I	OMIM:620114
HP:0034345	Mendelian inheritance	3710	ITPR3	OMIM:620111
HP:0034345	Mendelian inheritance	2979	GUCA1B	OMIM:613827
HP:0034345	Mendelian inheritance	9759	HDAC4	OMIM:600430
HP:0034345	Mendelian inheritance	9759	HDAC4	OMIM:619797
HP:0034345	Mendelian inheritance	64376	IKZF5	OMIM:619130
HP:0034345	Mendelian inheritance	120892	LRRK2	OMIM:607060
HP:0034345	Mendelian inheritance	51778	MYOZ2	OMIM:613838
HP:0034345	Mendelian inheritance	654	BMP6	OMIM:620121
HP:0034345	Mendelian inheritance	899	CCNF	OMIM:619141
HP:0034345	Mendelian inheritance	860	RUNX2	OMIM:156510
HP:0034345	Mendelian inheritance	860	RUNX2	OMIM:119600
HP:0034345	Mendelian inheritance	27161	AGO2	OMIM:619149
HP:0034345	Mendelian inheritance	5567	PRKACB	OMIM:619143
HP:0034345	Mendelian inheritance	1462	VCAN	OMIM:143200
HP:0034345	Mendelian inheritance	6495	SIX1	OMIM:608389
HP:0034345	Mendelian inheritance	6495	SIX1	OMIM:113650
HP:0034345	Mendelian inheritance	6495	SIX1	OMIM:605192
HP:0034345	Mendelian inheritance	23019	CNOT1	OMIM:619033
HP:0034345	Mendelian inheritance	23019	CNOT1	OMIM:618500
HP:0034345	Mendelian inheritance	55851	PSENEN	OMIM:613736
HP:0034345	Mendelian inheritance	4774	NFIA	OMIM:613735
HP:0034345	Mendelian inheritance	7003	TEAD1	OMIM:108985
HP:0034345	Mendelian inheritance	10992	SF3B2	OMIM:164210
HP:0034345	Mendelian inheritance	355	FAS	OMIM:601859
HP:0034345	Mendelian inheritance	5498	PPOX	OMIM:176200
HP:0034345	Mendelian inheritance	64780	MICAL1	OMIM:600512
HP:0034345	Mendelian inheritance	9211	LGI1	OMIM:600512
HP:0034345	Mendelian inheritance	1137	CHRNA4	OMIM:600513
HP:0034345	Mendelian inheritance	4901	NRL	OMIM:613750
HP:0034345	Mendelian inheritance	93	ACVR2B	OMIM:613751
HP:0034345	Mendelian inheritance	6575	SLC20A2	OMIM:213600
HP:0034345	Mendelian inheritance	4214	MAP3K1	OMIM:613762
HP:0034345	Mendelian inheritance	29880	ALG5	OMIM:620056
HP:0034345	Mendelian inheritance	283120	H19	OMIM:194070
HP:0034345	Mendelian inheritance	1576	CYP3A4	OMIM:619073
HP:0034345	Mendelian inheritance	4953	ODC1	OMIM:619075
HP:0034345	Mendelian inheritance	22900	CARD8	OMIM:619079
HP:0034345	Mendelian inheritance	6660	SOX5	OMIM:616803
HP:0034345	Mendelian inheritance	22859	ADGRL1	OMIM:620065
HP:0034345	Mendelian inheritance	10236	HNRNPR	OMIM:620073
HP:0034345	Mendelian inheritance	51611	DPH5	OMIM:620070
HP:0034345	Mendelian inheritance	79966	SCD5	OMIM:619086
HP:0034345	Mendelian inheritance	402	ARL2	OMIM:619082
HP:0034345	Mendelian inheritance	5594	MAPK1	OMIM:619087
HP:0034345	Mendelian inheritance	10253	SPRY2	OMIM:616818
HP:0034345	Mendelian inheritance	6742	SSBP1	OMIM:165510
HP:0034345	Mendelian inheritance	51085	MLXIPL	OMIM:194050
HP:0034345	Mendelian inheritance	3187	HNRNPH1	OMIM:620083
HP:0034345	Mendelian inheritance	22880	MORC2	OMIM:619090
HP:0034345	Mendelian inheritance	22880	MORC2	OMIM:616688
HP:0034345	Mendelian inheritance	11117	EMILIN1	OMIM:620080
HP:0034345	Mendelian inheritance	4088	SMAD3	OMIM:613795
HP:0034345	Mendelian inheritance	506	ATP5F1B	OMIM:620085
HP:0034345	Mendelian inheritance	92154	MTSS2	OMIM:620086
HP:0034345	Mendelian inheritance	84978	FRMD5	OMIM:620094
HP:0034345	Mendelian inheritance	51053	GMNN	OMIM:616835
HP:0034345	Mendelian inheritance	10664	CTCF	OMIM:615502
HP:0034345	Mendelian inheritance	57592	ZNF687	OMIM:616833
HP:0034345	Mendelian inheritance	23534	TNPO3	OMIM:608423
HP:0034345	Mendelian inheritance	2658	GDF2	OMIM:615506
HP:0034345	Mendelian inheritance	3720	JARID2	OMIM:620098
HP:0034345	Mendelian inheritance	865	CBFB	OMIM:620099
HP:0034345	Mendelian inheritance	147495	APCDD1	OMIM:605389
HP:0034345	Mendelian inheritance	2066	ERBB4	OMIM:615515
HP:0034345	Mendelian inheritance	2495	FTH1	OMIM:615517
HP:0034345	Mendelian inheritance	128866	CHMP4B	OMIM:605387
HP:0034345	Mendelian inheritance	9094	UNC119	OMIM:615518
HP:0034345	Mendelian inheritance	123624	AGBL1	OMIM:615523
HP:0034345	Mendelian inheritance	1141	CHRNB2	OMIM:605375
HP:0034345	Mendelian inheritance	55997	CFC1	OMIM:605376
HP:0034345	Mendelian inheritance	55737	VPS35	OMIM:614203
HP:0034345	Mendelian inheritance	7874	USP7	OMIM:616863
HP:0034345	Mendelian inheritance	102	ADAM10	OMIM:615537
HP:0034345	Mendelian inheritance	5582	PRKCG	OMIM:605361
HP:0034345	Mendelian inheritance	51428	DDX41	OMIM:616871
HP:0034345	Mendelian inheritance	55780	ERMARD	OMIM:615544
HP:0034345	Mendelian inheritance	10320	IKZF1	OMIM:616873
HP:0034345	Mendelian inheritance	11280	SCN11A	OMIM:615548
HP:0034345	Mendelian inheritance	11280	SCN11A	OMIM:615552
HP:0034345	Mendelian inheritance	6336	SCN10A	OMIM:615551
HP:0034345	Mendelian inheritance	8863	PER3	OMIM:616882
HP:0034345	Mendelian inheritance	6138	RPL15	OMIM:615550
HP:0034345	Mendelian inheritance	3747	KCNC2	OMIM:619913
HP:0034345	Mendelian inheritance	490	ATP2B1	OMIM:619910
HP:0034345	Mendelian inheritance	50937	CDON	OMIM:614226
HP:0034345	Mendelian inheritance	1857	DVL3	OMIM:616894
HP:0034345	Mendelian inheritance	9790	BMS1	OMIM:107600
HP:0034345	Mendelian inheritance	10558	SPTLC1	OMIM:162400
HP:0034345	Mendelian inheritance	4791	NFKB2	OMIM:615577
HP:0034345	Mendelian inheritance	5455	POU3F3	OMIM:618604
HP:0034345	Mendelian inheritance	81545	FBXO38	OMIM:615575
HP:0034345	Mendelian inheritance	9757	KMT2B	OMIM:619934
HP:0034345	Mendelian inheritance	9757	KMT2B	OMIM:617284
HP:0034345	Mendelian inheritance	5430	POLR2A	OMIM:618603
HP:0034345	Mendelian inheritance	4848	CNOT2	OMIM:618608
HP:0034345	Mendelian inheritance	4340	MOG	OMIM:614250
HP:0034345	Mendelian inheritance	1981	EIF4G1	OMIM:614251
HP:0034345	Mendelian inheritance	7043	TGFB3	OMIM:615582
HP:0034345	Mendelian inheritance	7043	TGFB3	OMIM:107970
HP:0034345	Mendelian inheritance	22827	PUF60	OMIM:615583
HP:0034345	Mendelian inheritance	2036	EPB41L1	OMIM:614257
HP:0034345	Mendelian inheritance	10369	CACNG2	OMIM:614256
HP:0034345	Mendelian inheritance	406932	MIR140	OMIM:618618
HP:0034345	Mendelian inheritance	54796	BNC2	OMIM:618612
HP:0034345	Mendelian inheritance	58499	ZNF462	OMIM:618619
HP:0034345	Mendelian inheritance	3299	HSF4	OMIM:116800
HP:0034345	Mendelian inheritance	10194	TSHZ1	OMIM:607842
HP:0034345	Mendelian inheritance	23135	KDM6B	OMIM:618505
HP:0034345	Mendelian inheritance	6659	SOX4	OMIM:618506
HP:0034345	Mendelian inheritance	27022	FOXD3	OMIM:607836
HP:0034345	Mendelian inheritance	4653	MYOC	OMIM:137750
HP:0034345	Mendelian inheritance	51807	TUBA8	OMIM:619840
HP:0034345	Mendelian inheritance	9578	CDC42BPB	OMIM:619841
HP:0034345	Mendelian inheritance	80816	ASXL3	OMIM:615485
HP:0034345	Mendelian inheritance	56616	DIABLO	OMIM:614152
HP:0034345	Mendelian inheritance	10528	NOP56	OMIM:614153
HP:0034345	Mendelian inheritance	55904	KMT2E	OMIM:618512
HP:0034345	Mendelian inheritance	90	ACVR1	OMIM:135100
HP:0034345	Mendelian inheritance	6794	STK11	OMIM:260350
HP:0034345	Mendelian inheritance	6794	STK11	OMIM:155600
HP:0034345	Mendelian inheritance	6794	STK11	OMIM:175200
HP:0034345	Mendelian inheritance	818	CAMK2G	OMIM:618522
HP:0034345	Mendelian inheritance	1407	CRY1	OMIM:614163
HP:0034345	Mendelian inheritance	64834	ELOVL1	OMIM:618527
HP:0034345	Mendelian inheritance	84146	ZNF644	OMIM:614167
HP:0034345	Mendelian inheritance	2770	GNAI1	OMIM:619854
HP:0034345	Mendelian inheritance	1733	DIO1	OMIM:619855
HP:0034345	Mendelian inheritance	5139	PDE3A	OMIM:112410
HP:0034345	Mendelian inheritance	23347	SMCHD1	OMIM:603457
HP:0034345	Mendelian inheritance	2624	GATA2	OMIM:614172
HP:0034345	Mendelian inheritance	2624	GATA2	OMIM:614038
HP:0034345	Mendelian inheritance	2624	GATA2	OMIM:601626
HP:0034345	Mendelian inheritance	8789	FBP2	OMIM:619864
HP:0034345	Mendelian inheritance	23327	NEDD4L	OMIM:617201
HP:0034345	Mendelian inheritance	10621	POLR3F	OMIM:619872
HP:0034345	Mendelian inheritance	26038	CHD5	OMIM:619873
HP:0034345	Mendelian inheritance	30813	VSX1	OMIM:614195
HP:0034345	Mendelian inheritance	30813	VSX1	OMIM:148300
HP:0034345	Mendelian inheritance	56098	PCDHGC4	OMIM:619880
HP:0034345	Mendelian inheritance	24145	PANX1	OMIM:618550
HP:0034345	Mendelian inheritance	2555	GABRA2	OMIM:618557
HP:0034345	Mendelian inheritance	2558	GABRA5	OMIM:618559
HP:0034345	Mendelian inheritance	5308	PITX2	OMIM:180550
HP:0034345	Mendelian inheritance	5308	PITX2	OMIM:180500
HP:0034345	Mendelian inheritance	5308	PITX2	OMIM:137600
HP:0034345	Mendelian inheritance	8974	P4HA2	OMIM:617238
HP:0034345	Mendelian inheritance	6533	SLC6A6	OMIM:145350
HP:0034345	Mendelian inheritance	5881	RAC3	OMIM:618577
HP:0034345	Mendelian inheritance	94	ACVRL1	OMIM:600376
HP:0034345	Mendelian inheritance	1173	AP2M1	OMIM:618587
HP:0034345	Mendelian inheritance	60675	PROK2	OMIM:610628
HP:0034345	Mendelian inheritance	6229	RPS24	OMIM:610629
HP:0034345	Mendelian inheritance	123606	NIPA1	OMIM:600363
HP:0034345	Mendelian inheritance	153	ADRB1	OMIM:618591
HP:0034345	Mendelian inheritance	7707	ZNF148	OMIM:617260
HP:0034345	Mendelian inheritance	57520	HECW2	OMIM:617268
HP:0034345	Mendelian inheritance	1760	DMPK	OMIM:160900
HP:0034345	Mendelian inheritance	64388	GREM2	OMIM:617275
HP:0034345	Mendelian inheritance	6530	SLC6A2	OMIM:604715
HP:0034345	Mendelian inheritance	57522	SRGAP1	OMIM:188470
HP:0034345	Mendelian inheritance	551	AVP	OMIM:125700
HP:0034345	Mendelian inheritance	7136	TNNI2	OMIM:601680
HP:0034345	Mendelian inheritance	4635	MYL4	OMIM:617280
HP:0034345	Mendelian inheritance	54949	SDHAF2	OMIM:601650
HP:0034345	Mendelian inheritance	23067	SETD1B	OMIM:619000
HP:0034345	Mendelian inheritance	9573	GDF3	OMIM:613703
HP:0034345	Mendelian inheritance	9573	GDF3	OMIM:613702
HP:0034345	Mendelian inheritance	9573	GDF3	OMIM:613704
HP:0034345	Mendelian inheritance	2668	GDNF	OMIM:613711
HP:0034345	Mendelian inheritance	3110	MNX1	OMIM:176450
HP:0034345	Mendelian inheritance	8910	SGCE	OMIM:159900
HP:0034345	Mendelian inheritance	3785	KCNQ2	OMIM:613720
HP:0034345	Mendelian inheritance	3785	KCNQ2	OMIM:121200
HP:0034345	Mendelian inheritance	8914	TIMELESS	OMIM:620015
HP:0034345	Mendelian inheritance	55294	FBXW7	OMIM:620012
HP:0034345	Mendelian inheritance	128674	PROKR2	OMIM:244200
HP:0034345	Mendelian inheritance	6662	SOX9	OMIM:114290
HP:0034345	Mendelian inheritance	1559	CYP2C9	OMIM:122700
HP:0034345	Mendelian inheritance	5921	RASA1	OMIM:608354
HP:0034345	Mendelian inheritance	9517	SPTLC2	OMIM:613640
HP:0034345	Mendelian inheritance	23314	SATB2	OMIM:612313
HP:0034345	Mendelian inheritance	80216	ALPK1	OMIM:614979
HP:0034345	Mendelian inheritance	2903	GRIN2A	OMIM:245570
HP:0034345	Mendelian inheritance	23118	TAB2	OMIM:614980
HP:0034345	Mendelian inheritance	3418	IDH2	OMIM:613657
HP:0034345	Mendelian inheritance	338567	KCNK18	OMIM:613656
HP:0034345	Mendelian inheritance	64419	MTMR14	OMIM:160150
HP:0034345	Mendelian inheritance	10472	ZBTB18	OMIM:612337
HP:0034345	Mendelian inheritance	4205	MEF2A	OMIM:608320
HP:0034345	Mendelian inheritance	27086	FOXP1	OMIM:613670
HP:0034345	Mendelian inheritance	10661	KLF1	OMIM:613673
HP:0034345	Mendelian inheritance	64321	SOX17	OMIM:613674
HP:0034345	Mendelian inheritance	51322	WAC	OMIM:616708
HP:0034345	Mendelian inheritance	9455	HOMER2	OMIM:616707
HP:0034345	Mendelian inheritance	7546	ZIC2	OMIM:609637
HP:0034345	Mendelian inheritance	51142	CHCHD2	OMIM:616710
HP:0034345	Mendelian inheritance	144245	ALG10B	OMIM:613688
HP:0034345	Mendelian inheritance	3757	KCNH2	OMIM:613688
HP:0034345	Mendelian inheritance	3757	KCNH2	OMIM:609620
HP:0034345	Mendelian inheritance	3053	SERPIND1	OMIM:612356
HP:0034345	Mendelian inheritance	3736	KCNA1	OMIM:160120
HP:0034345	Mendelian inheritance	406987	MIR204	OMIM:616722
HP:0034345	Mendelian inheritance	23028	KDM1A	OMIM:616728
HP:0034345	Mendelian inheritance	3748	KCNC3	OMIM:605259
HP:0034345	Mendelian inheritance	998	CDC42	OMIM:616737
HP:0034345	Mendelian inheritance	26011	TENM4	OMIM:616736
HP:0034345	Mendelian inheritance	10982	MAPRE2	OMIM:616734
HP:0034345	Mendelian inheritance	2122	MECOM	OMIM:616738
HP:0034345	Mendelian inheritance	6314	ATXN7	OMIM:164500
HP:0034345	Mendelian inheritance	889	KRIT1	OMIM:116860
HP:0034345	Mendelian inheritance	7283	TUBG1	OMIM:615412
HP:0034345	Mendelian inheritance	7128	TNFAIP3	OMIM:616744
HP:0034345	Mendelian inheritance	340719	NANOS1	OMIM:615413
HP:0034345	Mendelian inheritance	3796	KIF2A	OMIM:615411
HP:0034345	Mendelian inheritance	56244	BTNL2	OMIM:612387
HP:0034345	Mendelian inheritance	201973	PRIMPOL	OMIM:615420
HP:0034345	Mendelian inheritance	3178	HNRNPA1	OMIM:615424
HP:0034345	Mendelian inheritance	3178	HNRNPA1	OMIM:615426
HP:0034345	Mendelian inheritance	3181	HNRNPA2B1	OMIM:615422
HP:0034345	Mendelian inheritance	1859	DYRK1A	OMIM:614104
HP:0034345	Mendelian inheritance	79853	TM4SF20	OMIM:615432
HP:0034345	Mendelian inheritance	5592	PRKG1	OMIM:615436
HP:0034345	Mendelian inheritance	3060	HCRT	OMIM:161400
HP:0034345	Mendelian inheritance	56910	STARD7	OMIM:607876
HP:0034345	Mendelian inheritance	3123	HLA-DRB1	OMIM:181000
HP:0034345	Mendelian inheritance	56172	ANKH	OMIM:118600
HP:0034345	Mendelian inheritance	56172	ANKH	OMIM:123000
HP:0034345	Mendelian inheritance	1748	DLX4	OMIM:616788
HP:0034345	Mendelian inheritance	23250	ATP11A	OMIM:619810
HP:0034345	Mendelian inheritance	23389	MED13L	OMIM:616789
HP:0034345	Mendelian inheritance	79875	THSD4	OMIM:619825
HP:0034345	Mendelian inheritance	54829	ASPN	OMIM:607850
HP:0034345	Mendelian inheritance	8036	SHOC2	OMIM:607721
HP:0034345	Mendelian inheritance	3783	KCNN4	OMIM:616689
HP:0034345	Mendelian inheritance	6016	RIT1	OMIM:615355
HP:0034345	Mendelian inheritance	6938	TCF12	OMIM:619718
HP:0034345	Mendelian inheritance	6938	TCF12	OMIM:615314
HP:0034345	Mendelian inheritance	7849	PAX8	OMIM:218700
HP:0034345	Mendelian inheritance	3020	H3-3A	OMIM:619720
HP:0034345	Mendelian inheritance	3021	H3-3B	OMIM:619721
HP:0034345	Mendelian inheritance	3029	HAGH	OMIM:614033
HP:0034345	Mendelian inheritance	1106	CHD2	OMIM:615369
HP:0034345	Mendelian inheritance	3781	KCNN2	OMIM:619724
HP:0034345	Mendelian inheritance	3781	KCNN2	OMIM:619725
HP:0034345	Mendelian inheritance	63976	PRDM16	OMIM:615373
HP:0034345	Mendelian inheritance	6327	SCN2B	OMIM:615378
HP:0034345	Mendelian inheritance	7020	TFAP2A	OMIM:113620
HP:0034345	Mendelian inheritance	51271	UBAP1	OMIM:618418
HP:0034345	Mendelian inheritance	8363	H4C11	OMIM:619759
HP:0034345	Mendelian inheritance	8364	H4C3	OMIM:619758
HP:0034345	Mendelian inheritance	53335	BCL11A	OMIM:617101
HP:0034345	Mendelian inheritance	6942	TCF20	OMIM:618430
HP:0034345	Mendelian inheritance	6506	SLC1A2	OMIM:617105
HP:0034345	Mendelian inheritance	7140	TNNT3	OMIM:618435
HP:0034345	Mendelian inheritance	6117	RPA1	OMIM:619767
HP:0034345	Mendelian inheritance	7248	TSC1	OMIM:191100
HP:0034345	Mendelian inheritance	9993	DGCR2	OMIM:192430
HP:0034345	Mendelian inheritance	8220	ESS2	OMIM:192430
HP:0034345	Mendelian inheritance	8214	DGCR6	OMIM:192430
HP:0034345	Mendelian inheritance	54487	DGCR8	OMIM:192430
HP:0034345	Mendelian inheritance	54894	RNF43	OMIM:617108
HP:0034345	Mendelian inheritance	51341	ZBTB7A	OMIM:619769
HP:0034345	Mendelian inheritance	23162	MAPK8IP3	OMIM:618443
HP:0034345	Mendelian inheritance	2562	GABRB3	OMIM:617113
HP:0034345	Mendelian inheritance	2562	GABRB3	OMIM:612269
HP:0034345	Mendelian inheritance	7867	MAPKAPK3	OMIM:617111
HP:0034345	Mendelian inheritance	8131	NPRL3	OMIM:617118
HP:0034345	Mendelian inheritance	10641	NPRL2	OMIM:617116
HP:0034345	Mendelian inheritance	23219	FBXO28	OMIM:619777
HP:0034345	Mendelian inheritance	6330	SCN4B	OMIM:611819
HP:0034345	Mendelian inheritance	5083	PAX9	OMIM:604625
HP:0034345	Mendelian inheritance	3763	KCNJ6	OMIM:614098
HP:0034345	Mendelian inheritance	120766137	HRURF	OMIM:146550
HP:0034345	Mendelian inheritance	5062	PAK2	OMIM:618458
HP:0034345	Mendelian inheritance	10142	AKAP9	OMIM:611820
HP:0034345	Mendelian inheritance	30817	ADGRE2	OMIM:125630
HP:0034345	Mendelian inheritance	11281	POU6F2	OMIM:601583
HP:0034345	Mendelian inheritance	353116	RILPL1	OMIM:619790
HP:0034345	Mendelian inheritance	8402	SLC25A11	OMIM:618464
HP:0034345	Mendelian inheritance	1071	CETP	OMIM:143470
HP:0034345	Mendelian inheritance	3786	KCNQ3	OMIM:121201
HP:0034345	Mendelian inheritance	8462	KLF11	OMIM:610508
HP:0034345	Mendelian inheritance	1743	DLST	OMIM:618475
HP:0034345	Mendelian inheritance	54765	TRIM44	OMIM:617142
HP:0034345	Mendelian inheritance	27286	SRPX2	OMIM:300643
HP:0034345	Mendelian inheritance	26610	ELP4	OMIM:617141
HP:0034345	Mendelian inheritance	6651	SON	OMIM:617140
HP:0034345	Mendelian inheritance	1815	DRD4	OMIM:143465
HP:0034345	Mendelian inheritance	362	AQP5	OMIM:600231
HP:0034345	Mendelian inheritance	2560	GABRB1	OMIM:617153
HP:0034345	Mendelian inheritance	1108	CHD4	OMIM:617159
HP:0034345	Mendelian inheritance	372	ARCN1	OMIM:617164
HP:0034345	Mendelian inheritance	22808	MRAS	OMIM:618499
HP:0034345	Mendelian inheritance	2906	GRIN2D	OMIM:617162
HP:0034345	Mendelian inheritance	4015	LOX	OMIM:617168
HP:0034345	Mendelian inheritance	54538	ROBO4	OMIM:618496
HP:0034345	Mendelian inheritance	2257	FGF12	OMIM:617166
HP:0034345	Mendelian inheritance	2192	FBLN1	OMIM:608180
HP:0034345	Mendelian inheritance	9343	EFTUD2	OMIM:610536
HP:0034345	Mendelian inheritance	9791	PTDSS1	OMIM:151050
HP:0034345	Mendelian inheritance	1415	CRYBB2	OMIM:601547
HP:0034345	Mendelian inheritance	716	C1S	OMIM:617174
HP:0034345	Mendelian inheritance	57514	ARHGAP31	OMIM:100300
HP:0034345	Mendelian inheritance	6154	RPL26	OMIM:614900
HP:0034345	Mendelian inheritance	783	CACNB2	OMIM:611876
HP:0034345	Mendelian inheritance	55252	ASXL2	OMIM:617190
HP:0034345	Mendelian inheritance	283	ANG	OMIM:611895
HP:0034345	Mendelian inheritance	6041	RNASEL	OMIM:601518
HP:0034345	Mendelian inheritance	8996	NOL3	OMIM:614937
HP:0034345	Mendelian inheritance	10299	MARCHF6	OMIM:613608
HP:0034345	Mendelian inheritance	26511	CHIC2	OMIM:601626
HP:0034345	Mendelian inheritance	1050	CEBPA	OMIM:601626
HP:0034345	Mendelian inheritance	2322	FLT3	OMIM:601626
HP:0034345	Mendelian inheritance	6455	SH3GL1	OMIM:601626
HP:0034345	Mendelian inheritance	4869	NPM1	OMIM:601626
HP:0034345	Mendelian inheritance	8028	MLLT10	OMIM:601626
HP:0034345	Mendelian inheritance	8301	PICALM	OMIM:601626
HP:0034345	Mendelian inheritance	4026	LPP	OMIM:601626
HP:0034345	Mendelian inheritance	146227	BEAN1	OMIM:117210
HP:0034345	Mendelian inheritance	124404	SEPTIN12	OMIM:614822
HP:0034345	Mendelian inheritance	50940	PDE11A	OMIM:610475
HP:0034345	Mendelian inheritance	26012	NSMF	OMIM:614838
HP:0034345	Mendelian inheritance	56262	LRRC8A	OMIM:613506
HP:0034345	Mendelian inheritance	57492	ARID1B	OMIM:135900
HP:0034345	Mendelian inheritance	9639	ARHGEF10	OMIM:608236
HP:0034345	Mendelian inheritance	7187	TRAF3	OMIM:614849
HP:0034345	Mendelian inheritance	22953	P2RX2	OMIM:608224
HP:0034345	Mendelian inheritance	4069	LYZ	OMIM:105200
HP:0034345	Mendelian inheritance	4306	NR3C2	OMIM:177735
HP:0034345	Mendelian inheritance	4306	NR3C2	OMIM:605115
HP:0034345	Mendelian inheritance	9568	GABBR2	OMIM:617903
HP:0034345	Mendelian inheritance	9568	GABBR2	OMIM:617904
HP:0034345	Mendelian inheritance	9180	OSMR	OMIM:105250
HP:0034345	Mendelian inheritance	9394	HS6ST1	OMIM:614880
HP:0034345	Mendelian inheritance	10743	RAI1	OMIM:182290
HP:0034345	Mendelian inheritance	867	CBL	OMIM:613563
HP:0034345	Mendelian inheritance	867	CBL	OMIM:607785
HP:0034345	Mendelian inheritance	10371	SEMA3A	OMIM:614897
HP:0034345	Mendelian inheritance	113457	TUBA3D	OMIM:617928
HP:0034345	Mendelian inheritance	6310	ATXN1	OMIM:164400
HP:0034345	Mendelian inheritance	8729	GBF1	OMIM:606483
HP:0034345	Mendelian inheritance	3741	KCNA5	OMIM:612240
HP:0034345	Mendelian inheritance	9698	PUM1	OMIM:617931
HP:0034345	Mendelian inheritance	6328	SCN3A	OMIM:617935
HP:0034345	Mendelian inheritance	6328	SCN3A	OMIM:617938
HP:0034345	Mendelian inheritance	6710	SPTB	OMIM:617948
HP:0034345	Mendelian inheritance	6710	SPTB	OMIM:616649
HP:0034345	Mendelian inheritance	4297	KMT2A	OMIM:605130
HP:0034345	Mendelian inheritance	3047	HBG1	OMIM:141749
HP:0034345	Mendelian inheritance	3566	IL4R	OMIM:147050
HP:0034345	Mendelian inheritance	2206	MS4A2	OMIM:147050
HP:0034345	Mendelian inheritance	2978	GUCA1A	OMIM:602093
HP:0034345	Mendelian inheritance	23092	ARHGAP26	OMIM:607785
HP:0034345	Mendelian inheritance	3791	KDR	OMIM:602089
HP:0034345	Mendelian inheritance	811	CALR	OMIM:187950
HP:0034345	Mendelian inheritance	7066	THPO	OMIM:187950
HP:0034345	Mendelian inheritance	1508	CTSB	OMIM:148370
HP:0034345	Mendelian inheritance	54664	TMEM106B	OMIM:617964
HP:0034345	Mendelian inheritance	2224	FDPS	OMIM:616631
HP:0034345	Mendelian inheritance	2475	MTOR	OMIM:616638
HP:0034345	Mendelian inheritance	93986	FOXP2	OMIM:602081
HP:0034345	Mendelian inheritance	57338	JPH3	OMIM:606438
HP:0034345	Mendelian inheritance	9368	NHERF1	OMIM:612287
HP:0034345	Mendelian inheritance	29957	SLC25A24	OMIM:612289
HP:0034345	Mendelian inheritance	51305	KCNK9	OMIM:612292
HP:0034345	Mendelian inheritance	54870	QRICH1	OMIM:617982
HP:0034345	Mendelian inheritance	23509	POFUT1	OMIM:615327
HP:0034345	Mendelian inheritance	5296	PIK3R2	OMIM:603387
HP:0034345	Mendelian inheritance	6497	SKI	OMIM:182212
HP:0034345	Mendelian inheritance	55023	PHIP	OMIM:617991
HP:0034345	Mendelian inheritance	6915	TBXA2R	OMIM:614009
HP:0034345	Mendelian inheritance	136371	ASB10	OMIM:603383
HP:0034345	Mendelian inheritance	4093	SMAD9	OMIM:615342
HP:0034345	Mendelian inheritance	3777	KCNK3	OMIM:615344
HP:0034345	Mendelian inheritance	6688	SPI1	OMIM:619707
HP:0034345	Mendelian inheritance	64170	CARD9	OMIM:212050
HP:0034345	Mendelian inheritance	2673	GFPT1	OMIM:608931
HP:0034345	Mendelian inheritance	2673	GFPT1	OMIM:610542
HP:0034345	Mendelian inheritance	1145	CHRNE	OMIM:608931
HP:0034345	Mendelian inheritance	1145	CHRNE	OMIM:605809
HP:0034345	Mendelian inheritance	1145	CHRNE	OMIM:616324
HP:0034345	Mendelian inheritance	51256	TBC1D7	OMIM:248000
HP:0034345	Mendelian inheritance	28981	IFT81	OMIM:617895
HP:0034345	Mendelian inheritance	583	BBS2	OMIM:616562
HP:0034345	Mendelian inheritance	583	BBS2	OMIM:615981
HP:0034345	Mendelian inheritance	51569	UFM1	OMIM:617899
HP:0034345	Mendelian inheritance	79827	CLMP	OMIM:615237
HP:0034345	Mendelian inheritance	134701	RIPPLY2	OMIM:616566
HP:0034345	Mendelian inheritance	7299	TYR	OMIM:203100
HP:0034345	Mendelian inheritance	7299	TYR	OMIM:606952
HP:0034345	Mendelian inheritance	63924	CIDEC	OMIM:615238
HP:0034345	Mendelian inheritance	6890	TAP1	OMIM:604571
HP:0034345	Mendelian inheritance	6891	TAP2	OMIM:604571
HP:0034345	Mendelian inheritance	6892	TAPBP	OMIM:604571
HP:0034345	Mendelian inheritance	7068	THRB	OMIM:274300
HP:0034345	Mendelian inheritance	1134	CHRNA1	OMIM:608930
HP:0034345	Mendelian inheritance	1134	CHRNA1	OMIM:253290
HP:0034345	Mendelian inheritance	51099	ABHD5	OMIM:275630
HP:0034345	Mendelian inheritance	2731	GLDC	OMIM:605899
HP:0034345	Mendelian inheritance	275	AMT	OMIM:605899
HP:0034345	Mendelian inheritance	54714	CNGB3	OMIM:262300
HP:0034345	Mendelian inheritance	2073	ERCC5	OMIM:616570
HP:0034345	Mendelian inheritance	2073	ERCC5	OMIM:278780
HP:0034345	Mendelian inheritance	396	ARHGDIA	OMIM:615244
HP:0034345	Mendelian inheritance	166378	AFG2A	OMIM:616577
HP:0034345	Mendelian inheritance	146845	CFAP52	OMIM:619607
HP:0034345	Mendelian inheritance	25790	CFAP45	OMIM:619608
HP:0034345	Mendelian inheritance	477	ATP1A2	OMIM:619602
HP:0034345	Mendelian inheritance	84197	POMK	OMIM:615249
HP:0034345	Mendelian inheritance	84197	POMK	OMIM:616094
HP:0034345	Mendelian inheritance	84520	GON7	OMIM:619603
HP:0034345	Mendelian inheritance	81846	SBF2	OMIM:604563
HP:0034345	Mendelian inheritance	1161	ERCC8	OMIM:216400
HP:0034345	Mendelian inheritance	1161	ERCC8	OMIM:614621
HP:0034345	Mendelian inheritance	79693	YRDC	OMIM:619609
HP:0034345	Mendelian inheritance	1369	CPN1	OMIM:212070
HP:0034345	Mendelian inheritance	5832	ALDH18A1	OMIM:616586
HP:0034345	Mendelian inheritance	5832	ALDH18A1	OMIM:219150
HP:0034345	Mendelian inheritance	79029	AFG2B	OMIM:619616
HP:0034345	Mendelian inheritance	79029	AFG2B	OMIM:619615
HP:0034345	Mendelian inheritance	7436	VLDLR	OMIM:224050
HP:0034345	Mendelian inheritance	80201	HKDC1	OMIM:619614
HP:0034345	Mendelian inheritance	5191	PEX7	OMIM:215100
HP:0034345	Mendelian inheritance	5191	PEX7	OMIM:266500
HP:0034345	Mendelian inheritance	5191	PEX7	OMIM:614879
HP:0034345	Mendelian inheritance	200942	KLHDC8B	OMIM:236000
HP:0034345	Mendelian inheritance	1565	CYP2D6	OMIM:608902
HP:0034345	Mendelian inheritance	5297	PI4KA	OMIM:619621
HP:0034345	Mendelian inheritance	5297	PI4KA	OMIM:616531
HP:0034345	Mendelian inheritance	5297	PI4KA	OMIM:619708
HP:0034345	Mendelian inheritance	54756	IL17RD	OMIM:615267
HP:0034345	Mendelian inheritance	51761	ATP8A2	OMIM:615268
HP:0034345	Mendelian inheritance	51702	PADI3	OMIM:191480
HP:0034345	Mendelian inheritance	4247	MGAT2	OMIM:212066
HP:0034345	Mendelian inheritance	5373	PMM2	OMIM:212065
HP:0034345	Mendelian inheritance	5337	PLD1	OMIM:212093
HP:0034345	Mendelian inheritance	5317	PKP1	OMIM:604536
HP:0034345	Mendelian inheritance	167691	LCA5	OMIM:604537
HP:0034345	Mendelian inheritance	2072	ERCC4	OMIM:615272
HP:0034345	Mendelian inheritance	2072	ERCC4	OMIM:610965
HP:0034345	Mendelian inheritance	2072	ERCC4	OMIM:278760
HP:0034345	Mendelian inheritance	30009	TBX21	OMIM:619630
HP:0034345	Mendelian inheritance	30009	TBX21	OMIM:208550
HP:0034345	Mendelian inheritance	55768	NGLY1	OMIM:615273
HP:0034345	Mendelian inheritance	1770	DNAH9	OMIM:618300
HP:0034345	Mendelian inheritance	29775	CARD10	OMIM:619632
HP:0034345	Mendelian inheritance	55621	TRMT1	OMIM:618302
HP:0034345	Mendelian inheritance	6905	TBCE	OMIM:241410
HP:0034345	Mendelian inheritance	6905	TBCE	OMIM:244460
HP:0034345	Mendelian inheritance	6905	TBCE	OMIM:617207
HP:0034345	Mendelian inheritance	3982	LIM2	OMIM:615277
HP:0034345	Mendelian inheritance	5593	PRKG2	OMIM:619638
HP:0034345	Mendelian inheritance	5593	PRKG2	OMIM:619636
HP:0034345	Mendelian inheritance	399	RHOH	OMIM:618307
HP:0034345	Mendelian inheritance	9354	UBE4A	OMIM:619639
HP:0034345	Mendelian inheritance	3574	IL7	OMIM:618309
HP:0034345	Mendelian inheritance	55823	VPS11	OMIM:619637
HP:0034345	Mendelian inheritance	55823	VPS11	OMIM:616683
HP:0034345	Mendelian inheritance	6606	SMN1	OMIM:253400
HP:0034345	Mendelian inheritance	6606	SMN1	OMIM:253300
HP:0034345	Mendelian inheritance	6606	SMN1	OMIM:271150
HP:0034345	Mendelian inheritance	6606	SMN1	OMIM:253550
HP:0034345	Mendelian inheritance	6607	SMN2	OMIM:253400
HP:0034345	Mendelian inheritance	3507	IGHM	OMIM:601495
HP:0034345	Mendelian inheritance	54828	BCAS3	OMIM:619641
HP:0034345	Mendelian inheritance	6305	SBF1	OMIM:615284
HP:0034345	Mendelian inheritance	1615	DARS1	OMIM:615281
HP:0034345	Mendelian inheritance	431705	ASTL	OMIM:619643
HP:0034345	Mendelian inheritance	57169	ZNFX1	OMIM:619644
HP:0034345	Mendelian inheritance	11041	B4GAT1	OMIM:615287
HP:0034345	Mendelian inheritance	11311	VPS45	OMIM:615285
HP:0034345	Mendelian inheritance	113179	ADAT3	OMIM:615286
HP:0034345	Mendelian inheritance	145645	TERB2	OMIM:619645
HP:0034345	Mendelian inheritance	283847	TERB1	OMIM:619646
HP:0034345	Mendelian inheritance	111	ADCY5	OMIM:619647
HP:0034345	Mendelian inheritance	111	ADCY5	OMIM:619651
HP:0034345	Mendelian inheritance	9772	TMEM94	OMIM:618316
HP:0034345	Mendelian inheritance	79971	WLS	OMIM:619648
HP:0034345	Mendelian inheritance	57462	MYORG	OMIM:618317
HP:0034345	Mendelian inheritance	29958	DMGDH	OMIM:605850
HP:0034345	Mendelian inheritance	56652	TWNK	OMIM:271245
HP:0034345	Mendelian inheritance	56652	TWNK	OMIM:607459
HP:0034345	Mendelian inheritance	56652	TWNK	OMIM:616138
HP:0034345	Mendelian inheritance	3373	HYAL1	OMIM:601492
HP:0034345	Mendelian inheritance	1491	CTH	OMIM:219500
HP:0034345	Mendelian inheritance	92749	DRC1	OMIM:615294
HP:0034345	Mendelian inheritance	92749	DRC1	OMIM:620222
HP:0034345	Mendelian inheritance	55739	NAXD	OMIM:618321
HP:0034345	Mendelian inheritance	5966	REL	OMIM:619652
HP:0034345	Mendelian inheritance	7143	TNR	OMIM:619653
HP:0034345	Mendelian inheritance	6843	VAMP1	OMIM:618323
HP:0034345	Mendelian inheritance	197258	FCSK	OMIM:618324
HP:0034345	Mendelian inheritance	2694	CBLIF	OMIM:261000
HP:0034345	Mendelian inheritance	285203	EOGT	OMIM:615297
HP:0034345	Mendelian inheritance	125988	MICOS13	OMIM:618329
HP:0034345	Mendelian inheritance	84168	ANTXR1	OMIM:230740
HP:0034345	Mendelian inheritance	4087	SMAD2	OMIM:619657
HP:0034345	Mendelian inheritance	54532	USP53	OMIM:619658
HP:0034345	Mendelian inheritance	2744	GLS	OMIM:618328
HP:0034345	Mendelian inheritance	2744	GLS	OMIM:618412
HP:0034345	Mendelian inheritance	5654	HTRA1	OMIM:600142
HP:0034345	Mendelian inheritance	2055	CLN8	OMIM:600143
HP:0034345	Mendelian inheritance	2055	CLN8	OMIM:610003
HP:0034345	Mendelian inheritance	23514	SPIDR	OMIM:619665
HP:0034345	Mendelian inheritance	54101	RIPK4	OMIM:263650
HP:0034345	Mendelian inheritance	54101	RIPK4	OMIM:214350
HP:0034345	Mendelian inheritance	51693	TRAPPC2L	OMIM:618331
HP:0034345	Mendelian inheritance	113220	KIF12	OMIM:619662
HP:0034345	Mendelian inheritance	120	ADD3	OMIM:617008
HP:0034345	Mendelian inheritance	7535	ZAP70	OMIM:617006
HP:0034345	Mendelian inheritance	7535	ZAP70	OMIM:269840
HP:0034345	Mendelian inheritance	5426	POLE	OMIM:618336
HP:0034345	Mendelian inheritance	5426	POLE	OMIM:615139
HP:0034345	Mendelian inheritance	7273	TTN	OMIM:611705
HP:0034345	Mendelian inheritance	7273	TTN	OMIM:608807
HP:0034345	Mendelian inheritance	64132	XYLT2	OMIM:605822
HP:0034345	Mendelian inheritance	64132	XYLT2	OMIM:264800
HP:0034345	Mendelian inheritance	2074	ERCC6	OMIM:133540
HP:0034345	Mendelian inheritance	2074	ERCC6	OMIM:278800
HP:0034345	Mendelian inheritance	2074	ERCC6	OMIM:600630
HP:0034345	Mendelian inheritance	2074	ERCC6	OMIM:214150
HP:0034345	Mendelian inheritance	7287	TULP1	OMIM:600132
HP:0034345	Mendelian inheritance	7287	TULP1	OMIM:613843
HP:0034345	Mendelian inheritance	10020	GNE	OMIM:605820
HP:0034345	Mendelian inheritance	6448	SGSH	OMIM:252900
HP:0034345	Mendelian inheritance	8925	HERC1	OMIM:617011
HP:0034345	Mendelian inheritance	1281	COL3A1	OMIM:618343
HP:0034345	Mendelian inheritance	196	AHR	OMIM:618345
HP:0034345	Mendelian inheritance	10785	WDR4	OMIM:618346
HP:0034345	Mendelian inheritance	10785	WDR4	OMIM:618347
HP:0034345	Mendelian inheritance	1441	CSF3R	OMIM:617014
HP:0034345	Mendelian inheritance	23516	SLC39A14	OMIM:617013
HP:0034345	Mendelian inheritance	84074	QRICH2	OMIM:618341
HP:0034345	Mendelian inheritance	10734	STAG3	OMIM:619672
HP:0034345	Mendelian inheritance	10734	STAG3	OMIM:615723
HP:0034345	Mendelian inheritance	285498	RNF212	OMIM:619673
HP:0034345	Mendelian inheritance	54517	PUS7	OMIM:618342
HP:0034345	Mendelian inheritance	10564	ARFGEF2	OMIM:608097
HP:0034345	Mendelian inheritance	4311	MME	OMIM:617017
HP:0034345	Mendelian inheritance	5396	PRRX1	OMIM:202650
HP:0034345	Mendelian inheritance	1798	DPAGT1	OMIM:608093
HP:0034345	Mendelian inheritance	1798	DPAGT1	OMIM:614750
HP:0034345	Mendelian inheritance	57122	NUP107	OMIM:618348
HP:0034345	Mendelian inheritance	57122	NUP107	OMIM:618078
HP:0034345	Mendelian inheritance	57122	NUP107	OMIM:616730
HP:0034345	Mendelian inheritance	55746	NUP133	OMIM:618349
HP:0034345	Mendelian inheritance	55746	NUP133	OMIM:618177
HP:0034345	Mendelian inheritance	51259	TMEM216	OMIM:608091
HP:0034345	Mendelian inheritance	51259	TMEM216	OMIM:603194
HP:0034345	Mendelian inheritance	56623	INPP5E	OMIM:213300
HP:0034345	Mendelian inheritance	56623	INPP5E	OMIM:610156
HP:0034345	Mendelian inheritance	4023	LPL	OMIM:238600
HP:0034345	Mendelian inheritance	1950	EGF	OMIM:611718
HP:0034345	Mendelian inheritance	6442	SGCA	OMIM:608099
HP:0034345	Mendelian inheritance	56945	MRPS22	OMIM:611719
HP:0034345	Mendelian inheritance	56945	MRPS22	OMIM:618117
HP:0034345	Mendelian inheritance	10165	SLC25A13	OMIM:605814
HP:0034345	Mendelian inheritance	10165	SLC25A13	OMIM:603471
HP:0034345	Mendelian inheritance	55315	SLC29A3	OMIM:602782
HP:0034345	Mendelian inheritance	8540	AGPS	OMIM:600121
HP:0034345	Mendelian inheritance	5896	RAG1	OMIM:601457
HP:0034345	Mendelian inheritance	5896	RAG1	OMIM:233650
HP:0034345	Mendelian inheritance	5896	RAG1	OMIM:603554
HP:0034345	Mendelian inheritance	5897	RAG2	OMIM:601457
HP:0034345	Mendelian inheritance	5897	RAG2	OMIM:233650
HP:0034345	Mendelian inheritance	5897	RAG2	OMIM:603554
HP:0034345	Mendelian inheritance	10397	NDRG1	OMIM:601455
HP:0034345	Mendelian inheritance	55610	VPS50	OMIM:619685
HP:0034345	Mendelian inheritance	91754	NEK9	OMIM:617022
HP:0034345	Mendelian inheritance	91754	NEK9	OMIM:614262
HP:0034345	Mendelian inheritance	1294	COL7A1	OMIM:226600
HP:0034345	Mendelian inheritance	1294	COL7A1	OMIM:131850
HP:0034345	Mendelian inheritance	1294	COL7A1	OMIM:131705
HP:0034345	Mendelian inheritance	1294	COL7A1	OMIM:604129
HP:0034345	Mendelian inheritance	4312	MMP1	OMIM:226600
HP:0034345	Mendelian inheritance	81790	RNF170	OMIM:619686
HP:0034345	Mendelian inheritance	23395	LARS2	OMIM:617021
HP:0034345	Mendelian inheritance	23395	LARS2	OMIM:615300
HP:0034345	Mendelian inheritance	23114	NFASC	OMIM:618356
HP:0034345	Mendelian inheritance	64801	ARV1	OMIM:617020
HP:0034345	Mendelian inheritance	55182	RNF220	OMIM:619688
HP:0034345	Mendelian inheritance	116461	TSEN15	OMIM:617026
HP:0034345	Mendelian inheritance	55262	TRAPPC14	OMIM:618351
HP:0034345	Mendelian inheritance	2784	GNB3	OMIM:617024
HP:0034345	Mendelian inheritance	7783	ZP2	OMIM:618353
HP:0034345	Mendelian inheritance	60509	AGBL5	OMIM:617023
HP:0034345	Mendelian inheritance	23043	TNIK	OMIM:617028
HP:0034345	Mendelian inheritance	140801	RPL10L	OMIM:619689
HP:0034345	Mendelian inheritance	11190	CEP250	OMIM:618358
HP:0034345	Mendelian inheritance	5660	PSAP	OMIM:611721
HP:0034345	Mendelian inheritance	5660	PSAP	OMIM:611722
HP:0034345	Mendelian inheritance	5660	PSAP	OMIM:249900
HP:0034345	Mendelian inheritance	5660	PSAP	OMIM:610539
HP:0034345	Mendelian inheritance	154881	KCTD7	OMIM:611726
HP:0034345	Mendelian inheritance	346007	EYS	OMIM:602772
HP:0034345	Mendelian inheritance	5934	RBL2	OMIM:619690
HP:0034345	Mendelian inheritance	57190	SELENON	OMIM:602771
HP:0034345	Mendelian inheritance	79709	COLGALT1	OMIM:618360
HP:0034345	Mendelian inheritance	16	AARS1	OMIM:619691
HP:0034345	Mendelian inheritance	16	AARS1	OMIM:616339
HP:0034345	Mendelian inheritance	5071	PRKN	OMIM:600116
HP:0034345	Mendelian inheritance	7480	WNT10B	OMIM:225300
HP:0034345	Mendelian inheritance	286151	FBXO43	OMIM:619696
HP:0034345	Mendelian inheritance	286151	FBXO43	OMIM:619697
HP:0034345	Mendelian inheritance	153642	ARSK	OMIM:619698
HP:0034345	Mendelian inheritance	10588	MTHFS	OMIM:618367
HP:0034345	Mendelian inheritance	22930	RAB3GAP1	OMIM:600118
HP:0034345	Mendelian inheritance	22930	RAB3GAP1	OMIM:619420
HP:0034345	Mendelian inheritance	51434	ANAPC7	OMIM:619699
HP:0034345	Mendelian inheritance	122622	ADSS1	OMIM:617030
HP:0034345	Mendelian inheritance	4141	MARS1	OMIM:619692
HP:0034345	Mendelian inheritance	4141	MARS1	OMIM:615486
HP:0034345	Mendelian inheritance	7922	SLC39A7	OMIM:619693
HP:0034345	Mendelian inheritance	84068	SLC10A7	OMIM:618363
HP:0034345	Mendelian inheritance	3643	INSR	OMIM:246200
HP:0034345	Mendelian inheritance	3643	INSR	OMIM:262190
HP:0034345	Mendelian inheritance	6718	AKR1D1	OMIM:235555
HP:0034345	Mendelian inheritance	54834	GDAP2	OMIM:618369
HP:0034345	Mendelian inheritance	4625	MYH7	OMIM:255160
HP:0034345	Mendelian inheritance	3431	SP110	OMIM:235550
HP:0034345	Mendelian inheritance	4647	MYO7A	OMIM:276900
HP:0034345	Mendelian inheritance	4647	MYO7A	OMIM:600060
HP:0034345	Mendelian inheritance	10083	USH1C	OMIM:276900
HP:0034345	Mendelian inheritance	10083	USH1C	OMIM:276904
HP:0034345	Mendelian inheritance	10083	USH1C	OMIM:602092
HP:0034345	Mendelian inheritance	7399	USH2A	OMIM:276901
HP:0034345	Mendelian inheritance	7399	USH2A	OMIM:613809
HP:0034345	Mendelian inheritance	79955	PDZD7	OMIM:276901
HP:0034345	Mendelian inheritance	79955	PDZD7	OMIM:618003
HP:0034345	Mendelian inheritance	79955	PDZD7	OMIM:605472
HP:0034345	Mendelian inheritance	23418	CRB1	OMIM:600105
HP:0034345	Mendelian inheritance	23418	CRB1	OMIM:613835
HP:0034345	Mendelian inheritance	7086	TKT	OMIM:617044
HP:0034345	Mendelian inheritance	63931	MRPS14	OMIM:618378
HP:0034345	Mendelian inheritance	5321	PLA2G4A	OMIM:618372
HP:0034345	Mendelian inheritance	23328	SASH1	OMIM:618373
HP:0034345	Mendelian inheritance	10667	FARS2	OMIM:617046
HP:0034345	Mendelian inheritance	10667	FARS2	OMIM:614946
HP:0034345	Mendelian inheritance	9971	NR1H4	OMIM:617049
HP:0034345	Mendelian inheritance	2065	ERBB3	OMIM:243180
HP:0034345	Mendelian inheritance	2065	ERBB3	OMIM:607598
HP:0034345	Mendelian inheritance	9294	S1PR2	OMIM:610419
HP:0034345	Mendelian inheritance	3674	ITGA2B	OMIM:273800
HP:0034345	Mendelian inheritance	83480	PUS3	OMIM:617051
HP:0034345	Mendelian inheritance	8943	AP3D1	OMIM:617050
HP:0034345	Mendelian inheritance	83959	SLC4A11	OMIM:217700
HP:0034345	Mendelian inheritance	83959	SLC4A11	OMIM:217400
HP:0034345	Mendelian inheritance	65260	COA7	OMIM:618387
HP:0034345	Mendelian inheritance	55975	KLHL7	OMIM:617055
HP:0034345	Mendelian inheritance	55697	VAC14	OMIM:617054
HP:0034345	Mendelian inheritance	5913	RAPSN	OMIM:618388
HP:0034345	Mendelian inheritance	5913	RAPSN	OMIM:616326
HP:0034345	Mendelian inheritance	1053	CEBPE	OMIM:260570
HP:0034345	Mendelian inheritance	1053	CEBPE	OMIM:245480
HP:0034345	Mendelian inheritance	285489	DOK7	OMIM:618389
HP:0034345	Mendelian inheritance	285489	DOK7	OMIM:254300
HP:0034345	Mendelian inheritance	134218	DNAJC21	OMIM:617052
HP:0034345	Mendelian inheritance	134218	DNAJC21	OMIM:260400
HP:0034345	Mendelian inheritance	3914	LAMB3	OMIM:226650
HP:0034345	Mendelian inheritance	3914	LAMB3	OMIM:226700
HP:0034345	Mendelian inheritance	27107	ZBTB11	OMIM:618383
HP:0034345	Mendelian inheritance	64849	SLC13A3	OMIM:618384
HP:0034345	Mendelian inheritance	1278	COL1A2	OMIM:225320
HP:0034345	Mendelian inheritance	84957	RELT	OMIM:618386
HP:0034345	Mendelian inheritance	80184	CEP290	OMIM:611755
HP:0034345	Mendelian inheritance	80184	CEP290	OMIM:615991
HP:0034345	Mendelian inheritance	80184	CEP290	OMIM:610188
HP:0034345	Mendelian inheritance	80184	CEP290	OMIM:610189
HP:0034345	Mendelian inheritance	80184	CEP290	OMIM:611134
HP:0034345	Mendelian inheritance	57010	CABP4	OMIM:610427
HP:0034345	Mendelian inheritance	162417	NAGS	OMIM:237310
HP:0034345	Mendelian inheritance	8720	MBTPS1	OMIM:618392
HP:0034345	Mendelian inheritance	4927	NUP88	OMIM:618393
HP:0034345	Mendelian inheritance	9325	TRIP4	OMIM:617066
HP:0034345	Mendelian inheritance	9325	TRIP4	OMIM:616866
HP:0034345	Mendelian inheritance	84868	HAVCR2	OMIM:618398
HP:0034345	Mendelian inheritance	60558	GUF1	OMIM:617065
HP:0034345	Mendelian inheritance	8318	CDC45	OMIM:617063
HP:0034345	Mendelian inheritance	9326	ZNHIT3	OMIM:260565
HP:0034345	Mendelian inheritance	23233	EXOC6B	OMIM:618395
HP:0034345	Mendelian inheritance	7084	TK2	OMIM:617069
HP:0034345	Mendelian inheritance	7084	TK2	OMIM:609560
HP:0034345	Mendelian inheritance	1674	DES	OMIM:601419
HP:0034345	Mendelian inheritance	1716	DGUOK	OMIM:617068
HP:0034345	Mendelian inheritance	1716	DGUOK	OMIM:617070
HP:0034345	Mendelian inheritance	1716	DGUOK	OMIM:251880
HP:0034345	Mendelian inheritance	84340	GFM2	OMIM:618397
HP:0034345	Mendelian inheritance	2799	GNS	OMIM:252940
HP:0034345	Mendelian inheritance	26092	TOR1AIP1	OMIM:617072
HP:0034345	Mendelian inheritance	2203	FBP1	OMIM:229700
HP:0034345	Mendelian inheritance	5339	PLEC	OMIM:226670
HP:0034345	Mendelian inheritance	5339	PLEC	OMIM:612138
HP:0034345	Mendelian inheritance	5339	PLEC	OMIM:616487
HP:0034345	Mendelian inheritance	5339	PLEC	OMIM:226730
HP:0034345	Mendelian inheritance	5339	PLEC	OMIM:613723
HP:0034345	Mendelian inheritance	51594	NBAS	OMIM:614800
HP:0034345	Mendelian inheritance	51594	NBAS	OMIM:616483
HP:0034345	Mendelian inheritance	54187	NANS	OMIM:610442
HP:0034345	Mendelian inheritance	138050	HGSNAT	OMIM:252930
HP:0034345	Mendelian inheritance	138050	HGSNAT	OMIM:616544
HP:0034345	Mendelian inheritance	50617	ATP6V0A4	OMIM:602722
HP:0034345	Mendelian inheritance	116150	NUS1	OMIM:617082
HP:0034345	Mendelian inheritance	51626	DYNC2LI1	OMIM:617088
HP:0034345	Mendelian inheritance	9927	MFN2	OMIM:617087
HP:0034345	Mendelian inheritance	56947	MFF	OMIM:617086
HP:0034345	Mendelian inheritance	1291	COL6A1	OMIM:158810
HP:0034345	Mendelian inheritance	1291	COL6A1	OMIM:254090
HP:0034345	Mendelian inheritance	1292	COL6A2	OMIM:158810
HP:0034345	Mendelian inheritance	1292	COL6A2	OMIM:254090
HP:0034345	Mendelian inheritance	1292	COL6A2	OMIM:255600
HP:0034345	Mendelian inheritance	1293	COL6A3	OMIM:158810
HP:0034345	Mendelian inheritance	1293	COL6A3	OMIM:616411
HP:0034345	Mendelian inheritance	1293	COL6A3	OMIM:254090
HP:0034345	Mendelian inheritance	4137	MAPT	OMIM:260540
HP:0034345	Mendelian inheritance	54809	SAMD9	OMIM:610455
HP:0034345	Mendelian inheritance	26123	TCTN3	OMIM:614815
HP:0034345	Mendelian inheritance	26123	TCTN3	OMIM:258860
HP:0034345	Mendelian inheritance	27445	PCLO	OMIM:608027
HP:0034345	Mendelian inheritance	1373	CPS1	OMIM:237300
HP:0034345	Mendelian inheritance	4669	NAGLU	OMIM:252920
HP:0034345	Mendelian inheritance	25886	POC1A	OMIM:614813
HP:0034345	Mendelian inheritance	4053	LTBP2	OMIM:614819
HP:0034345	Mendelian inheritance	4053	LTBP2	OMIM:600975
HP:0034345	Mendelian inheritance	4053	LTBP2	OMIM:251750
HP:0034345	Mendelian inheritance	4053	LTBP2	OMIM:613086
HP:0034345	Mendelian inheritance	22909	FAN1	OMIM:614817
HP:0034345	Mendelian inheritance	168667	BMPER	OMIM:608022
HP:0034345	Mendelian inheritance	64374	SIL1	OMIM:248800
HP:0034345	Mendelian inheritance	2643	GCH1	OMIM:128230
HP:0034345	Mendelian inheritance	2643	GCH1	OMIM:233910
HP:0034345	Mendelian inheritance	26128	KIFBP	OMIM:609460
HP:0034345	Mendelian inheritance	80308	FLAD1	OMIM:255100
HP:0034345	Mendelian inheritance	25821	MTO1	OMIM:614702
HP:0034345	Mendelian inheritance	987	LRBA	OMIM:614700
HP:0034345	Mendelian inheritance	2896	GRN	OMIM:614706
HP:0034345	Mendelian inheritance	5961	PRPH2	OMIM:608133
HP:0034345	Mendelian inheritance	5961	PRPH2	OMIM:136880
HP:0034345	Mendelian inheritance	126792	B3GALT6	OMIM:609465
HP:0034345	Mendelian inheritance	126792	B3GALT6	OMIM:271640
HP:0034345	Mendelian inheritance	126792	B3GALT6	OMIM:615349
HP:0034345	Mendelian inheritance	79581	SLC52A2	OMIM:614707
HP:0034345	Mendelian inheritance	9401	RECQL4	OMIM:268400
HP:0034345	Mendelian inheritance	9401	RECQL4	OMIM:218600
HP:0034345	Mendelian inheritance	9401	RECQL4	OMIM:266280
HP:0034345	Mendelian inheritance	89910	UBE3B	OMIM:244450
HP:0034345	Mendelian inheritance	55788	LMBRD1	OMIM:277380
HP:0034345	Mendelian inheritance	169522	KCNV2	OMIM:610356
HP:0034345	Mendelian inheritance	54476	RNF216	OMIM:212840
HP:0034345	Mendelian inheritance	547	KIF1A	OMIM:610357
HP:0034345	Mendelian inheritance	547	KIF1A	OMIM:201300
HP:0034345	Mendelian inheritance	547	KIF1A	OMIM:614213
HP:0034345	Mendelian inheritance	771	CA12	OMIM:143860
HP:0034345	Mendelian inheritance	25778	DSTYK	OMIM:270750
HP:0034345	Mendelian inheritance	336	APOA2	OMIM:143890
HP:0034345	Mendelian inheritance	2053	EPHX2	OMIM:143890
HP:0034345	Mendelian inheritance	10842	PPP1R17	OMIM:143890
HP:0034345	Mendelian inheritance	2690	GHR	OMIM:143890
HP:0034345	Mendelian inheritance	2690	GHR	OMIM:262500
HP:0034345	Mendelian inheritance	3949	LDLR	OMIM:143890
HP:0034345	Mendelian inheritance	353	APRT	OMIM:614723
HP:0034345	Mendelian inheritance	8942	KYNU	OMIM:236800
HP:0034345	Mendelian inheritance	8942	KYNU	OMIM:617661
HP:0034345	Mendelian inheritance	55858	TMEM165	OMIM:614727
HP:0034345	Mendelian inheritance	80254	CEP63	OMIM:614728
HP:0034345	Mendelian inheritance	64087	MCCC2	OMIM:210210
HP:0034345	Mendelian inheritance	658	BMPR1B	OMIM:609441
HP:0034345	Mendelian inheritance	10518	CIB2	OMIM:609439
HP:0034345	Mendelian inheritance	10518	CIB2	OMIM:614869
HP:0034345	Mendelian inheritance	7374	UNG	OMIM:608106
HP:0034345	Mendelian inheritance	50674	NEUROG3	OMIM:610370
HP:0034345	Mendelian inheritance	1591	CYP24A1	OMIM:143880
HP:0034345	Mendelian inheritance	11284	PNKP	OMIM:613402
HP:0034345	Mendelian inheritance	11284	PNKP	OMIM:616267
HP:0034345	Mendelian inheritance	11284	PNKP	OMIM:605589
HP:0034345	Mendelian inheritance	4598	MVK	OMIM:610377
HP:0034345	Mendelian inheritance	4598	MVK	OMIM:260920
HP:0034345	Mendelian inheritance	56922	MCCC1	OMIM:210200
HP:0034345	Mendelian inheritance	63894	VIPAS39	OMIM:613404
HP:0034345	Mendelian inheritance	79053	ALG8	OMIM:608104
HP:0034345	Mendelian inheritance	84947	SERAC1	OMIM:614739
HP:0034345	Mendelian inheritance	57465	TBC1D24	OMIM:608105
HP:0034345	Mendelian inheritance	57465	TBC1D24	OMIM:605021
HP:0034345	Mendelian inheritance	57465	TBC1D24	OMIM:614617
HP:0034345	Mendelian inheritance	57465	TBC1D24	OMIM:220500
HP:0034345	Mendelian inheritance	57465	TBC1D24	OMIM:615338
HP:0034345	Mendelian inheritance	23530	NNT	OMIM:614736
HP:0034345	Mendelian inheritance	113278	SLC52A3	OMIM:211530
HP:0034345	Mendelian inheritance	113278	SLC52A3	OMIM:211500
HP:0034345	Mendelian inheritance	727857	BHLHA9	OMIM:609432
HP:0034345	Mendelian inheritance	727857	BHLHA9	OMIM:607539
HP:0034345	Mendelian inheritance	57217	TTC7A	OMIM:243150
HP:0034345	Mendelian inheritance	51660	MPC1	OMIM:614741
HP:0034345	Mendelian inheritance	6011	GRK1	OMIM:613411
HP:0034345	Mendelian inheritance	3211	HOXB1	OMIM:614744
HP:0034345	Mendelian inheritance	84720	PIGO	OMIM:614749
HP:0034345	Mendelian inheritance	11128	POLR3A	OMIM:264090
HP:0034345	Mendelian inheritance	11128	POLR3A	OMIM:607694
HP:0034345	Mendelian inheritance	3675	ITGA3	OMIM:614748
HP:0034345	Mendelian inheritance	80025	PANK2	OMIM:234200
HP:0034345	Mendelian inheritance	80025	PANK2	OMIM:607236
HP:0034345	Mendelian inheritance	23503	ZFYVE26	OMIM:270700
HP:0034345	Mendelian inheritance	388939	PCARE	OMIM:613428
HP:0034345	Mendelian inheritance	5241	PGR	OMIM:264080
HP:0034345	Mendelian inheritance	5092	PCBD1	OMIM:264070
HP:0034345	Mendelian inheritance	1374	CPT1A	OMIM:255120
HP:0034345	Mendelian inheritance	10133	OPTN	OMIM:613435
HP:0034345	Mendelian inheritance	6833	ABCC8	OMIM:256450
HP:0034345	Mendelian inheritance	6833	ABCC8	OMIM:618857
HP:0034345	Mendelian inheritance	3166	HMX1	OMIM:612109
HP:0034345	Mendelian inheritance	147372	CCBE1	OMIM:235510
HP:0034345	Mendelian inheritance	23479	ISCU	OMIM:255125
HP:0034345	Mendelian inheritance	64241	ABCG8	OMIM:210250
HP:0034345	Mendelian inheritance	54463	RETREG1	OMIM:201300
HP:0034345	Mendelian inheritance	54463	RETREG1	OMIM:613115
HP:0034345	Mendelian inheritance	65125	WNK1	OMIM:201300
HP:0034345	Mendelian inheritance	6335	SCN9A	OMIM:201300
HP:0034345	Mendelian inheritance	6335	SCN9A	OMIM:243000
HP:0034345	Mendelian inheritance	9276	COPB2	OMIM:617800
HP:0034345	Mendelian inheritance	1376	CPT2	OMIM:255110
HP:0034345	Mendelian inheritance	1376	CPT2	OMIM:608836
HP:0034345	Mendelian inheritance	1376	CPT2	OMIM:600649
HP:0034345	Mendelian inheritance	1376	CPT2	OMIM:614212
HP:0034345	Mendelian inheritance	220136	CFAP53	OMIM:614779
HP:0034345	Mendelian inheritance	7407	VARS1	OMIM:617802
HP:0034345	Mendelian inheritance	11181	TREH	OMIM:612119
HP:0034345	Mendelian inheritance	3559	IL2RA	OMIM:606367
HP:0034345	Mendelian inheritance	55703	POLR3B	OMIM:607694
HP:0034345	Mendelian inheritance	55703	POLR3B	OMIM:614381
HP:0034345	Mendelian inheritance	60529	ALX4	OMIM:613451
HP:0034345	Mendelian inheritance	5269	SERPINB6	OMIM:613453
HP:0034345	Mendelian inheritance	4688	NCF2	OMIM:233710
HP:0034345	Mendelian inheritance	8733	GPAA1	OMIM:617810
HP:0034345	Mendelian inheritance	8092	ALX1	OMIM:613456
HP:0034345	Mendelian inheritance	57679	ALS2	OMIM:606353
HP:0034345	Mendelian inheritance	57679	ALS2	OMIM:205100
HP:0034345	Mendelian inheritance	57679	ALS2	OMIM:607225
HP:0034345	Mendelian inheritance	5279	PIGC	OMIM:617816
HP:0034345	Mendelian inheritance	5745	PTH1R	OMIM:215045
HP:0034345	Mendelian inheritance	5745	PTH1R	OMIM:600002
HP:0034345	Mendelian inheritance	27329	ANGPTL3	OMIM:605019
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:216360
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:615991
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:607361
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:602152
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:610688
HP:0034345	Mendelian inheritance	91147	TMEM67	OMIM:613550
HP:0034345	Mendelian inheritance	84162	BLTP1	OMIM:617822
HP:0034345	Mendelian inheritance	123016	TTC8	OMIM:613464
HP:0034345	Mendelian inheritance	123016	TTC8	OMIM:615985
HP:0034345	Mendelian inheritance	1806	DPYD	OMIM:274270
HP:0034345	Mendelian inheritance	2902	GRIN1	OMIM:617820
HP:0034345	Mendelian inheritance	2902	GRIN1	OMIM:619814
HP:0034345	Mendelian inheritance	10587	TXNRD2	OMIM:617825
HP:0034345	Mendelian inheritance	54820	NDE1	OMIM:605013
HP:0034345	Mendelian inheritance	54820	NDE1	OMIM:614019
HP:0034345	Mendelian inheritance	51135	IRAK4	OMIM:607676
HP:0034345	Mendelian inheritance	9837	GINS1	OMIM:617827
HP:0034345	Mendelian inheritance	10683	DLL3	OMIM:277300
HP:0034345	Mendelian inheritance	145873	MESP2	OMIM:277300
HP:0034345	Mendelian inheritance	145873	MESP2	OMIM:608681
HP:0034345	Mendelian inheritance	2733	GLE1	OMIM:253310
HP:0034345	Mendelian inheritance	2733	GLE1	OMIM:611890
HP:0034345	Mendelian inheritance	2821	GPI	OMIM:613470
HP:0034345	Mendelian inheritance	128338	DRAM2	OMIM:616502
HP:0034345	Mendelian inheritance	10560	SLC19A2	OMIM:249270
HP:0034345	Mendelian inheritance	388753	COA6	OMIM:616501
HP:0034345	Mendelian inheritance	493753	COA5	OMIM:616500
HP:0034345	Mendelian inheritance	91137	SLC25A46	OMIM:616505
HP:0034345	Mendelian inheritance	91137	SLC25A46	OMIM:619303
HP:0034345	Mendelian inheritance	57211	ADGRG6	OMIM:616503
HP:0034345	Mendelian inheritance	4047	LSS	OMIM:616509
HP:0034345	Mendelian inheritance	4047	LSS	OMIM:618275
HP:0034345	Mendelian inheritance	4047	LSS	OMIM:618840
HP:0034345	Mendelian inheritance	6678	SPARC	OMIM:616507
HP:0034345	Mendelian inheritance	3784	KCNQ1	OMIM:220400
HP:0034345	Mendelian inheritance	4982	TNFRSF11B	OMIM:239000
HP:0034345	Mendelian inheritance	2632	GBE1	OMIM:263570
HP:0034345	Mendelian inheritance	2632	GBE1	OMIM:232500
HP:0034345	Mendelian inheritance	11315	PARK7	OMIM:606324
HP:0034345	Mendelian inheritance	7286	TUFT1	OMIM:607655
HP:0034345	Mendelian inheritance	4891	SLC11A2	OMIM:206100
HP:0034345	Mendelian inheritance	22926	ATF6	OMIM:616517
HP:0034345	Mendelian inheritance	4000	LMNA	OMIM:616516
HP:0034345	Mendelian inheritance	4000	LMNA	OMIM:176670
HP:0034345	Mendelian inheritance	4000	LMNA	OMIM:605588
HP:0034345	Mendelian inheritance	4000	LMNA	OMIM:248370
HP:0034345	Mendelian inheritance	25839	COG4	OMIM:613489
HP:0034345	Mendelian inheritance	653361	NCF1	OMIM:233700
HP:0034345	Mendelian inheritance	9750	RIPOR2	OMIM:616515
HP:0034345	Mendelian inheritance	158326	FREM1	OMIM:608980
HP:0034345	Mendelian inheritance	158326	FREM1	OMIM:248450
HP:0034345	Mendelian inheritance	27019	DNAI1	OMIM:244400
HP:0034345	Mendelian inheritance	5265	SERPINA1	OMIM:613490
HP:0034345	Mendelian inheritance	930	CD19	OMIM:613493
HP:0034345	Mendelian inheritance	930	CD19	OMIM:240500
HP:0034345	Mendelian inheritance	26580	BSCL2	OMIM:269700
HP:0034345	Mendelian inheritance	26580	BSCL2	OMIM:615924
HP:0034345	Mendelian inheritance	931	MS4A1	OMIM:613495
HP:0034345	Mendelian inheritance	115650	TNFRSF13C	OMIM:613494
HP:0034345	Mendelian inheritance	115650	TNFRSF13C	OMIM:240500
HP:0034345	Mendelian inheritance	975	CD81	OMIM:613496
HP:0034345	Mendelian inheritance	131669	UROC1	OMIM:276880
HP:0034345	Mendelian inheritance	3575	IL7R	OMIM:608971
HP:0034345	Mendelian inheritance	8022	LHX3	OMIM:221750
HP:0034345	Mendelian inheritance	122553	TRAPPC6B	OMIM:617862
HP:0034345	Mendelian inheritance	112752	IFT43	OMIM:617866
HP:0034345	Mendelian inheritance	112752	IFT43	OMIM:617871
HP:0034345	Mendelian inheritance	112752	IFT43	OMIM:614099
HP:0034345	Mendelian inheritance	50615	IL21R	OMIM:615207
HP:0034345	Mendelian inheritance	57570	TRMT5	OMIM:616539
HP:0034345	Mendelian inheritance	55612	FERMT1	OMIM:173650
HP:0034345	Mendelian inheritance	1605	DAG1	OMIM:616538
HP:0034345	Mendelian inheritance	1605	DAG1	OMIM:613818
HP:0034345	Mendelian inheritance	84433	CARD11	OMIM:615206
HP:0034345	Mendelian inheritance	9076	CLDN1	OMIM:607626
HP:0034345	Mendelian inheritance	925	CD8A	OMIM:608957
HP:0034345	Mendelian inheritance	10577	NPC2	OMIM:607625
HP:0034345	Mendelian inheritance	5873	RAB27A	OMIM:607624
HP:0034345	Mendelian inheritance	54802	TRIT1	OMIM:617873
HP:0034345	Mendelian inheritance	7518	XRCC4	OMIM:616541
HP:0034345	Mendelian inheritance	51081	MRPS7	OMIM:617872
HP:0034345	Mendelian inheritance	84823	LMNB2	OMIM:616540
HP:0034345	Mendelian inheritance	5295	PIK3R1	OMIM:615214
HP:0034345	Mendelian inheritance	9786	KIAA0586	OMIM:616546
HP:0034345	Mendelian inheritance	9786	KIAA0586	OMIM:616490
HP:0034345	Mendelian inheritance	178	AGL	OMIM:232400
HP:0034345	Mendelian inheritance	84700	MYO18B	OMIM:616549
HP:0034345	Mendelian inheritance	8777	MPDZ	OMIM:615219
HP:0034345	Mendelian inheritance	23533	PIK3R5	OMIM:615217
HP:0034345	Mendelian inheritance	6389	SDHA	OMIM:252011
HP:0034345	Mendelian inheritance	6389	SDHA	OMIM:613642
HP:0034345	Mendelian inheritance	6609	SMPD1	OMIM:607616
HP:0034345	Mendelian inheritance	6609	SMPD1	OMIM:257200
HP:0034345	Mendelian inheritance	65057	ACD	OMIM:616553
HP:0034345	Mendelian inheritance	672	BRCA1	OMIM:617883
HP:0034345	Mendelian inheritance	7305	TYROBP	OMIM:221770
HP:0034345	Mendelian inheritance	83452	RAB33B	OMIM:615222
HP:0034345	Mendelian inheritance	7471	WNT1	OMIM:615220
HP:0034345	Mendelian inheritance	80169	CTC1	OMIM:612199
HP:0034345	Mendelian inheritance	7700	ZNF141	OMIM:615226
HP:0034345	Mendelian inheritance	109	ADCY3	OMIM:617885
HP:0034345	Mendelian inheritance	498	ATP5F1A	OMIM:615228
HP:0034345	Mendelian inheritance	498	ATP5F1A	OMIM:616045
HP:0034345	Mendelian inheritance	5130	PCYT1A	OMIM:608940
HP:0034345	Mendelian inheritance	246329	STAC3	OMIM:255995
HP:0034345	Mendelian inheritance	3689	ITGB2	OMIM:116920
HP:0034345	Mendelian inheritance	7072	TIA1	OMIM:604454
HP:0034345	Mendelian inheritance	4638	MYLK	OMIM:249210
HP:0034345	Mendelian inheritance	229	ALDOB	OMIM:229600
HP:0034345	Mendelian inheritance	9853	RUSC2	OMIM:617773
HP:0034345	Mendelian inheritance	9860	LRIG2	OMIM:615112
HP:0034345	Mendelian inheritance	4750	NEK1	OMIM:263520
HP:0034345	Mendelian inheritance	84818	IL17RC	OMIM:616445
HP:0034345	Mendelian inheritance	220	ALDH1A3	OMIM:615113
HP:0034345	Mendelian inheritance	1355	COX15	OMIM:615119
HP:0034345	Mendelian inheritance	81857	MED25	OMIM:616449
HP:0034345	Mendelian inheritance	81857	MED25	OMIM:605589
HP:0034345	Mendelian inheritance	2720	GLB1	OMIM:230600
HP:0034345	Mendelian inheritance	2720	GLB1	OMIM:230650
HP:0034345	Mendelian inheritance	2720	GLB1	OMIM:230500
HP:0034345	Mendelian inheritance	2720	GLB1	OMIM:253010
HP:0034345	Mendelian inheritance	55733	HHAT	OMIM:600092
HP:0034345	Mendelian inheritance	57165	GJC2	OMIM:608804
HP:0034345	Mendelian inheritance	57165	GJC2	OMIM:613206
HP:0034345	Mendelian inheritance	267010	RNU12	OMIM:603116
HP:0034345	Mendelian inheritance	267010	RNU12	OMIM:620208
HP:0034345	Mendelian inheritance	7259	TSPYL1	OMIM:608800
HP:0034345	Mendelian inheritance	9742	IFT140	OMIM:617781
HP:0034345	Mendelian inheritance	9742	IFT140	OMIM:266920
HP:0034345	Mendelian inheritance	4522	MTHFD1	OMIM:617780
HP:0034345	Mendelian inheritance	4522	MTHFD1	OMIM:601634
HP:0034345	Mendelian inheritance	939	CD27	OMIM:615122
HP:0034345	Mendelian inheritance	55159	RFWD3	OMIM:617784
HP:0034345	Mendelian inheritance	8842	PROM1	OMIM:612095
HP:0034345	Mendelian inheritance	8842	PROM1	OMIM:612657
HP:0034345	Mendelian inheritance	375790	AGRN	OMIM:615120
HP:0034345	Mendelian inheritance	25959	KANK2	OMIM:617783
HP:0034345	Mendelian inheritance	25959	KANK2	OMIM:616099
HP:0034345	Mendelian inheritance	200205	IBA57	OMIM:616451
HP:0034345	Mendelian inheritance	200205	IBA57	OMIM:615330
HP:0034345	Mendelian inheritance	790	CAD	OMIM:616457
HP:0034345	Mendelian inheritance	54982	CLN6	OMIM:204300
HP:0034345	Mendelian inheritance	54982	CLN6	OMIM:601780
HP:0034345	Mendelian inheritance	28960	DCPS	OMIM:616459
HP:0034345	Mendelian inheritance	120227	CYP2R1	OMIM:600081
HP:0034345	Mendelian inheritance	51816	ADA2	OMIM:182410
HP:0034345	Mendelian inheritance	51816	ADA2	OMIM:615688
HP:0034345	Mendelian inheritance	10388	SYCP2	OMIM:258150
HP:0034345	Mendelian inheritance	80153	EDC3	OMIM:616460
HP:0034345	Mendelian inheritance	2937	GSS	OMIM:231900
HP:0034345	Mendelian inheritance	2937	GSS	OMIM:266130
HP:0034345	Mendelian inheritance	79797	ZNF408	OMIM:616469
HP:0034345	Mendelian inheritance	152926	PPM1K	OMIM:615135
HP:0034345	Mendelian inheritance	1303	COL12A1	OMIM:616470
HP:0034345	Mendelian inheritance	57498	KIDINS220	OMIM:619501
HP:0034345	Mendelian inheritance	55714	TENM3	OMIM:615145
HP:0034345	Mendelian inheritance	246243	RNASEH1	OMIM:616479
HP:0034345	Mendelian inheritance	5950	RBP4	OMIM:615147
HP:0034345	Mendelian inheritance	8642	DCHS1	OMIM:601390
HP:0034345	Mendelian inheritance	64072	CDH23	OMIM:601386
HP:0034345	Mendelian inheritance	64072	CDH23	OMIM:601067
HP:0034345	Mendelian inheritance	491	ATP2B2	OMIM:601386
HP:0034345	Mendelian inheritance	83861	RSPH3	OMIM:616481
HP:0034345	Mendelian inheritance	85301	COL27A1	OMIM:615155
HP:0034345	Mendelian inheritance	84879	MFSD2A	OMIM:616486
HP:0034345	Mendelian inheritance	27089	UQCRQ	OMIM:615159
HP:0034345	Mendelian inheritance	1182	CLCN3	OMIM:619517
HP:0034345	Mendelian inheritance	1001	CDH3	OMIM:225280
HP:0034345	Mendelian inheritance	1001	CDH3	OMIM:601553
HP:0034345	Mendelian inheritance	9453	GGPS1	OMIM:619518
HP:0034345	Mendelian inheritance	54902	TTC19	OMIM:615157
HP:0034345	Mendelian inheritance	6023	RMRP	OMIM:250250
HP:0034345	Mendelian inheritance	6023	RMRP	OMIM:250460
HP:0034345	Mendelian inheritance	6023	RMRP	OMIM:607095
HP:0034345	Mendelian inheritance	7381	UQCRB	OMIM:615158
HP:0034345	Mendelian inheritance	59335	PRDM12	OMIM:616488
HP:0034345	Mendelian inheritance	196385	DNAH10	OMIM:619515
HP:0034345	Mendelian inheritance	150468	CKAP2L	OMIM:272440
HP:0034345	Mendelian inheritance	8898	MTMR2	OMIM:601382
HP:0034345	Mendelian inheritance	9533	POLR1C	OMIM:616494
HP:0034345	Mendelian inheritance	9533	POLR1C	OMIM:248390
HP:0034345	Mendelian inheritance	7385	UQCRC2	OMIM:615160
HP:0034345	Mendelian inheritance	150274	HSCB	OMIM:619523
HP:0034345	Mendelian inheritance	3972	LHB	OMIM:228300
HP:0034345	Mendelian inheritance	154197	PNLDC1	OMIM:619528
HP:0034345	Mendelian inheritance	9562	MINPP1	OMIM:619527
HP:0034345	Mendelian inheritance	4353	MPO	OMIM:254600
HP:0034345	Mendelian inheritance	675	BRCA2	OMIM:605724
HP:0034345	Mendelian inheritance	675	BRCA2	OMIM:613029
HP:0034345	Mendelian inheritance	675	BRCA2	OMIM:155255
HP:0034345	Mendelian inheritance	10280	SIGMAR1	OMIM:605726
HP:0034345	Mendelian inheritance	10280	SIGMAR1	OMIM:614373
HP:0034345	Mendelian inheritance	153201	SLC36A2	OMIM:242600
HP:0034345	Mendelian inheritance	83723	TLCD3B	OMIM:619531
HP:0034345	Mendelian inheritance	22906	TRAK1	OMIM:618201
HP:0034345	Mendelian inheritance	79989	IFT56	OMIM:619534
HP:0034345	Mendelian inheritance	83938	LRMDA	OMIM:615179
HP:0034345	Mendelian inheritance	11152	WDR45	OMIM:615179
HP:0034345	Mendelian inheritance	2678	GGT1	OMIM:231950
HP:0034345	Mendelian inheritance	7476	WNT7A	OMIM:276820
HP:0034345	Mendelian inheritance	7476	WNT7A	OMIM:228930
HP:0034345	Mendelian inheritance	2317	FLNB	OMIM:272460
HP:0034345	Mendelian inheritance	9496	TBX4	OMIM:601360
HP:0034345	Mendelian inheritance	9896	FIG4	OMIM:216340
HP:0034345	Mendelian inheritance	9896	FIG4	OMIM:612691
HP:0034345	Mendelian inheritance	9896	FIG4	OMIM:611228
HP:0034345	Mendelian inheritance	148789	B3GALNT2	OMIM:615181
HP:0034345	Mendelian inheritance	27247	NFU1	OMIM:605711
HP:0034345	Mendelian inheritance	4883	NPR3	OMIM:619543
HP:0034345	Mendelian inheritance	6576	SLC25A1	OMIM:615182
HP:0034345	Mendelian inheritance	6576	SLC25A1	OMIM:618197
HP:0034345	Mendelian inheritance	7040	TGFB1	OMIM:618213
HP:0034345	Mendelian inheritance	7040	TGFB1	OMIM:219700
HP:0034345	Mendelian inheritance	137392	CIBAR1	OMIM:618219
HP:0034345	Mendelian inheritance	164	AP1G1	OMIM:619548
HP:0034345	Mendelian inheritance	84888	SPPL2A	OMIM:619549
HP:0034345	Mendelian inheritance	2879	GPX4	OMIM:250220
HP:0034345	Mendelian inheritance	3912	LAMB1	OMIM:615191
HP:0034345	Mendelian inheritance	2235	FECH	OMIM:177000
HP:0034345	Mendelian inheritance	199713	NLRP7	OMIM:231090
HP:0034345	Mendelian inheritance	51750	RTEL1	OMIM:615190
HP:0034345	Mendelian inheritance	4728	NDUFS8	OMIM:618222
HP:0034345	Mendelian inheritance	374291	NDUFS7	OMIM:618224
HP:0034345	Mendelian inheritance	4723	NDUFV1	OMIM:618225
HP:0034345	Mendelian inheritance	9785	DHX38	OMIM:618220
HP:0034345	Mendelian inheritance	79705	LRRK1	OMIM:615198
HP:0034345	Mendelian inheritance	57102	C12orf4	OMIM:618221
HP:0034345	Mendelian inheritance	359	AQP2	OMIM:125800
HP:0034345	Mendelian inheritance	4719	NDUFS1	OMIM:618226
HP:0034345	Mendelian inheritance	55628	ZNF407	OMIM:619557
HP:0034345	Mendelian inheritance	4720	NDUFS2	OMIM:618228
HP:0034345	Mendelian inheritance	4729	NDUFV2	OMIM:618229
HP:0034345	Mendelian inheritance	4179	CD46	OMIM:612922
HP:0034345	Mendelian inheritance	23363	OBSL1	OMIM:612921
HP:0034345	Mendelian inheritance	6916	TBXAS1	OMIM:231095
HP:0034345	Mendelian inheritance	3848	KRT1	OMIM:113800
HP:0034345	Mendelian inheritance	91942	NDUFAF2	OMIM:618233
HP:0034345	Mendelian inheritance	6514	SLC2A2	OMIM:227810
HP:0034345	Mendelian inheritance	84909	AOPEP	OMIM:619565
HP:0034345	Mendelian inheritance	51103	NDUFAF1	OMIM:618234
HP:0034345	Mendelian inheritance	3714	JAG2	OMIM:619566
HP:0034345	Mendelian inheritance	4695	NDUFA2	OMIM:618235
HP:0034345	Mendelian inheritance	126328	NDUFA11	OMIM:618236
HP:0034345	Mendelian inheritance	51119	SBDS	OMIM:260400
HP:0034345	Mendelian inheritance	6729	SRP54	OMIM:260400
HP:0034345	Mendelian inheritance	4722	NDUFS3	OMIM:618230
HP:0034345	Mendelian inheritance	219854	TMEM218	OMIM:619562
HP:0034345	Mendelian inheritance	147138	TMC8	OMIM:618231
HP:0034345	Mendelian inheritance	4726	NDUFS6	OMIM:618232
HP:0034345	Mendelian inheritance	29078	NDUFAF4	OMIM:618237
HP:0034345	Mendelian inheritance	79133	NDUFAF5	OMIM:618238
HP:0034345	Mendelian inheritance	137682	NDUFAF6	OMIM:618239
HP:0034345	Mendelian inheritance	137682	NDUFAF6	OMIM:618913
HP:0034345	Mendelian inheritance	1130	LYST	OMIM:214500
HP:0034345	Mendelian inheritance	3939	LDHA	OMIM:612933
HP:0034345	Mendelian inheritance	2027	ENO3	OMIM:612932
HP:0034345	Mendelian inheritance	54344	DPM3	OMIM:612937
HP:0034345	Mendelian inheritance	54344	DPM3	OMIM:618992
HP:0034345	Mendelian inheritance	9179	AP4M1	OMIM:612936
HP:0034345	Mendelian inheritance	79944	L2HGDH	OMIM:236792
HP:0034345	Mendelian inheritance	79068	FTO	OMIM:612938
HP:0034345	Mendelian inheritance	55967	NDUFA12	OMIM:618244
HP:0034345	Mendelian inheritance	4715	NDUFB9	OMIM:618245
HP:0034345	Mendelian inheritance	56915	EXOSC5	OMIM:619576
HP:0034345	Mendelian inheritance	4709	NDUFB3	OMIM:618246
HP:0034345	Mendelian inheritance	4704	NDUFA9	OMIM:618247
HP:0034345	Mendelian inheritance	25915	NDUFAF3	OMIM:618240
HP:0034345	Mendelian inheritance	55572	FOXRED1	OMIM:618241
HP:0034345	Mendelian inheritance	80224	NUBPL	OMIM:618242
HP:0034345	Mendelian inheritance	50619	DEF6	OMIM:619573
HP:0034345	Mendelian inheritance	4705	NDUFA10	OMIM:618243
HP:0034345	Mendelian inheritance	7170	TPM3	OMIM:609284
HP:0034345	Mendelian inheritance	7170	TPM3	OMIM:255310
HP:0034345	Mendelian inheritance	5831	PYCR1	OMIM:612940
HP:0034345	Mendelian inheritance	5831	PYCR1	OMIM:614438
HP:0034345	Mendelian inheritance	123263	MTFMT	OMIM:618248
HP:0034345	Mendelian inheritance	123263	MTFMT	OMIM:614947
HP:0034345	Mendelian inheritance	51079	NDUFA13	OMIM:618249
HP:0034345	Mendelian inheritance	9820	CUL7	OMIM:273750
HP:0034345	Mendelian inheritance	92344	GORAB	OMIM:231070
HP:0034345	Mendelian inheritance	2218	FKTN	OMIM:611615
HP:0034345	Mendelian inheritance	2218	FKTN	OMIM:611588
HP:0034345	Mendelian inheritance	2218	FKTN	OMIM:613152
HP:0034345	Mendelian inheritance	2218	FKTN	OMIM:253800
HP:0034345	Mendelian inheritance	2218	FKTN	OMIM:236670
HP:0034345	Mendelian inheritance	23203	PMPCA	OMIM:213200
HP:0034345	Mendelian inheritance	8604	SLC25A12	OMIM:612949
HP:0034345	Mendelian inheritance	55863	TMEM126B	OMIM:618250
HP:0034345	Mendelian inheritance	27031	NPHP3	OMIM:267010
HP:0034345	Mendelian inheritance	27031	NPHP3	OMIM:604387
HP:0034345	Mendelian inheritance	27031	NPHP3	OMIM:208540
HP:0034345	Mendelian inheritance	6795	AURKC	OMIM:243060
HP:0034345	Mendelian inheritance	55814	BDP1	OMIM:618257
HP:0034345	Mendelian inheritance	51300	TIMMDC1	OMIM:618251
HP:0034345	Mendelian inheritance	80173	IFT74	OMIM:619582
HP:0034345	Mendelian inheritance	80173	IFT74	OMIM:619585
HP:0034345	Mendelian inheritance	80173	IFT74	OMIM:617119
HP:0034345	Mendelian inheritance	4714	NDUFB8	OMIM:618252
HP:0034345	Mendelian inheritance	4700	NDUFA6	OMIM:618253
HP:0034345	Mendelian inheritance	115399	LRRC56	OMIM:618254
HP:0034345	Mendelian inheritance	8635	RNASET2	OMIM:612951
HP:0034345	Mendelian inheritance	1200	TPP1	OMIM:609270
HP:0034345	Mendelian inheritance	1200	TPP1	OMIM:204500
HP:0034345	Mendelian inheritance	8398	PLA2G6	OMIM:612953
HP:0034345	Mendelian inheritance	8398	PLA2G6	OMIM:610217
HP:0034345	Mendelian inheritance	8398	PLA2G6	OMIM:256600
HP:0034345	Mendelian inheritance	25939	SAMHD1	OMIM:612952
HP:0034345	Mendelian inheritance	9244	CRLF1	OMIM:272430
HP:0034345	Mendelian inheritance	970	CD70	OMIM:618261
HP:0034345	Mendelian inheritance	80347	COASY	OMIM:618266
HP:0034345	Mendelian inheritance	80347	COASY	OMIM:615643
HP:0034345	Mendelian inheritance	54507	ADAMTSL4	OMIM:225200
HP:0034345	Mendelian inheritance	54507	ADAMTSL4	OMIM:225100
HP:0034345	Mendelian inheritance	10519	CIB1	OMIM:618267
HP:0034345	Mendelian inheritance	57003	CCDC47	OMIM:618268
HP:0034345	Mendelian inheritance	3852	KRT5	OMIM:619599
HP:0034345	Mendelian inheritance	10847	SRCAP	OMIM:619595
HP:0034345	Mendelian inheritance	2312	FLG	OMIM:146700
HP:0034345	Mendelian inheritance	374354	NHLRC2	OMIM:618278
HP:0034345	Mendelian inheritance	64131	XYLT1	OMIM:264800
HP:0034345	Mendelian inheritance	64131	XYLT1	OMIM:615777
HP:0034345	Mendelian inheritance	368	ABCC6	OMIM:264800
HP:0034345	Mendelian inheritance	368	ABCC6	OMIM:614473
HP:0034345	Mendelian inheritance	23287	AGTPBP1	OMIM:618276
HP:0034345	Mendelian inheritance	64093	SMOC1	OMIM:206920
HP:0034345	Mendelian inheritance	23529	CLCF1	OMIM:610313
HP:0034345	Mendelian inheritance	60681	FKBP10	OMIM:259450
HP:0034345	Mendelian inheritance	60681	FKBP10	OMIM:610968
HP:0034345	Mendelian inheritance	9657	IQCB1	OMIM:609254
HP:0034345	Mendelian inheritance	84905	ZNF341	OMIM:618282
HP:0034345	Mendelian inheritance	4140	MARK3	OMIM:618283
HP:0034345	Mendelian inheritance	3739	KCNA4	OMIM:618284
HP:0034345	Mendelian inheritance	8200	GDF5	OMIM:201250
HP:0034345	Mendelian inheritance	8200	GDF5	OMIM:200700
HP:0034345	Mendelian inheritance	8200	GDF5	OMIM:615072
HP:0034345	Mendelian inheritance	8200	GDF5	OMIM:228900
HP:0034345	Mendelian inheritance	4668	NAGA	OMIM:609241
HP:0034345	Mendelian inheritance	4668	NAGA	OMIM:609242
HP:0034345	Mendelian inheritance	9487	PIGL	OMIM:280000
HP:0034345	Mendelian inheritance	5479	PPIB	OMIM:259440
HP:0034345	Mendelian inheritance	84233	TMEM126A	OMIM:612989
HP:0034345	Mendelian inheritance	84153	RNASEH2C	OMIM:610329
HP:0034345	Mendelian inheritance	1795	DOCK3	OMIM:618292
HP:0034345	Mendelian inheritance	5257	PHKB	OMIM:261750
HP:0034345	Mendelian inheritance	8665	EIF3F	OMIM:618295
HP:0034345	Mendelian inheritance	10535	RNASEH2A	OMIM:610333
HP:0034345	Mendelian inheritance	117155	CATSPER2	OMIM:612997
HP:0034345	Mendelian inheritance	117155	CATSPER2	OMIM:611102
HP:0034345	Mendelian inheritance	161497	STRC	OMIM:612997
HP:0034345	Mendelian inheritance	161497	STRC	OMIM:603720
HP:0034345	Mendelian inheritance	161497	STRC	OMIM:611102
HP:0034345	Mendelian inheritance	117144	CATSPER1	OMIM:612997
HP:0034345	Mendelian inheritance	6295	SAG	OMIM:258100
HP:0034345	Mendelian inheritance	6295	SAG	OMIM:613758
HP:0034345	Mendelian inheritance	1534	CYB561	OMIM:618182
HP:0034345	Mendelian inheritance	83483	PLVAP	OMIM:618183
HP:0034345	Mendelian inheritance	54084	TSPEAR	OMIM:618180
HP:0034345	Mendelian inheritance	54084	TSPEAR	OMIM:620173
HP:0034345	Mendelian inheritance	54084	TSPEAR	OMIM:614861
HP:0034345	Mendelian inheritance	79717	PPCS	OMIM:618189
HP:0034345	Mendelian inheritance	8506	CNTNAP1	OMIM:618186
HP:0034345	Mendelian inheritance	8506	CNTNAP1	OMIM:616286
HP:0034345	Mendelian inheritance	55503	TRPV6	OMIM:618188
HP:0034345	Mendelian inheritance	80821	DDHD1	OMIM:609340
HP:0034345	Mendelian inheritance	494513	PJVK	OMIM:610220
HP:0034345	Mendelian inheritance	84515	MCM8	OMIM:612885
HP:0034345	Mendelian inheritance	8195	MKKS	OMIM:236700
HP:0034345	Mendelian inheritance	8195	MKKS	OMIM:605231
HP:0034345	Mendelian inheritance	2997	GYS1	OMIM:611556
HP:0034345	Mendelian inheritance	55624	POMGNT1	OMIM:253280
HP:0034345	Mendelian inheritance	55624	POMGNT1	OMIM:613151
HP:0034345	Mendelian inheritance	55624	POMGNT1	OMIM:613157
HP:0034345	Mendelian inheritance	55624	POMGNT1	OMIM:617123
HP:0034345	Mendelian inheritance	3291	HSD11B2	OMIM:218030
HP:0034345	Mendelian inheritance	5111	PCNA	OMIM:615919
HP:0034345	Mendelian inheritance	2629	GBA1	OMIM:608013
HP:0034345	Mendelian inheritance	2629	GBA1	OMIM:231005
HP:0034345	Mendelian inheritance	2629	GBA1	OMIM:231000
HP:0034345	Mendelian inheritance	2629	GBA1	OMIM:230900
HP:0034345	Mendelian inheritance	2629	GBA1	OMIM:230800
HP:0034345	Mendelian inheritance	57176	VARS2	OMIM:615917
HP:0034345	Mendelian inheritance	80222	TARS2	OMIM:615918
HP:0034345	Mendelian inheritance	54209	TREM2	OMIM:618193
HP:0034345	Mendelian inheritance	49855	SCAPER	OMIM:618195
HP:0034345	Mendelian inheritance	3909	LAMA3	OMIM:245660
HP:0034345	Mendelian inheritance	3909	LAMA3	OMIM:226700
HP:0034345	Mendelian inheritance	3909	LAMA3	OMIM:619784
HP:0034345	Mendelian inheritance	3909	LAMA3	OMIM:619783
HP:0034345	Mendelian inheritance	4649	MYO9A	OMIM:618198
HP:0034345	Mendelian inheritance	23322	RPGRIP1L	OMIM:611561
HP:0034345	Mendelian inheritance	23322	RPGRIP1L	OMIM:611560
HP:0034345	Mendelian inheritance	23322	RPGRIP1L	OMIM:619113
HP:0034345	Mendelian inheritance	3141	HLCS	OMIM:253270
HP:0034345	Mendelian inheritance	25782	RAB3GAP2	OMIM:212720
HP:0034345	Mendelian inheritance	25782	RAB3GAP2	OMIM:614225
HP:0034345	Mendelian inheritance	9915	ARNT2	OMIM:615926
HP:0034345	Mendelian inheritance	2693	GHSR	OMIM:615925
HP:0034345	Mendelian inheritance	4868	NPHS1	OMIM:256300
HP:0034345	Mendelian inheritance	7827	NPHS2	OMIM:600995
HP:0034345	Mendelian inheritance	348	APOE	OMIM:269600
HP:0034345	Mendelian inheritance	6499	SKIC2	OMIM:614602
HP:0034345	Mendelian inheritance	686	BTD	OMIM:253260
HP:0034345	Mendelian inheritance	3117	HLA-DQA1	OMIM:212750
HP:0034345	Mendelian inheritance	3119	HLA-DQB1	OMIM:212750
HP:0034345	Mendelian inheritance	256297	PTF1A	OMIM:615935
HP:0034345	Mendelian inheritance	256297	PTF1A	OMIM:609069
HP:0034345	Mendelian inheritance	7840	ALMS1	OMIM:203800
HP:0034345	Mendelian inheritance	4591	TRIM37	OMIM:253250
HP:0034345	Mendelian inheritance	2301	FOXE3	OMIM:610256
HP:0034345	Mendelian inheritance	124512	METTL23	OMIM:615942
HP:0034345	Mendelian inheritance	26005	C2CD3	OMIM:615948
HP:0034345	Mendelian inheritance	9152	SLC6A5	OMIM:614618
HP:0034345	Mendelian inheritance	65250	CPLANE1	OMIM:614615
HP:0034345	Mendelian inheritance	65250	CPLANE1	OMIM:277170
HP:0034345	Mendelian inheritance	338328	GPIHBP1	OMIM:615947
HP:0034345	Mendelian inheritance	1174	AP1S1	OMIM:609313
HP:0034345	Mendelian inheritance	121512	FGD4	OMIM:609311
HP:0034345	Mendelian inheritance	7915	ALDH5A1	OMIM:271980
HP:0034345	Mendelian inheritance	2743	GLRB	OMIM:614619
HP:0034345	Mendelian inheritance	129563	DIS3L2	OMIM:267000
HP:0034345	Mendelian inheritance	117531	TMC1	OMIM:600974
HP:0034345	Mendelian inheritance	10585	POMT1	OMIM:609308
HP:0034345	Mendelian inheritance	10585	POMT1	OMIM:613155
HP:0034345	Mendelian inheritance	10585	POMT1	OMIM:236670
HP:0034345	Mendelian inheritance	443	ASPA	OMIM:271900
HP:0034345	Mendelian inheritance	259236	TMIE	OMIM:600971
HP:0034345	Mendelian inheritance	1836	SLC26A2	OMIM:600972
HP:0034345	Mendelian inheritance	1836	SLC26A2	OMIM:256050
HP:0034345	Mendelian inheritance	1836	SLC26A2	OMIM:222600
HP:0034345	Mendelian inheritance	1836	SLC26A2	OMIM:226900
HP:0034345	Mendelian inheritance	80326	WNT10A	OMIM:224750
HP:0034345	Mendelian inheritance	80326	WNT10A	OMIM:257980
HP:0034345	Mendelian inheritance	80326	WNT10A	OMIM:150400
HP:0034345	Mendelian inheritance	7010	TEK	OMIM:600975
HP:0034345	Mendelian inheritance	1545	CYP1B1	OMIM:600975
HP:0034345	Mendelian inheritance	1545	CYP1B1	OMIM:231300
HP:0034345	Mendelian inheritance	1545	CYP1B1	OMIM:617315
HP:0034345	Mendelian inheritance	6521	SLC4A1	OMIM:611590
HP:0034345	Mendelian inheritance	222662	LHFPL5	OMIM:610265
HP:0034345	Mendelian inheritance	10290	SPEG	OMIM:615959
HP:0034345	Mendelian inheritance	79751	SLC25A22	OMIM:609304
HP:0034345	Mendelian inheritance	9719	ADAMTSL2	OMIM:231050
HP:0034345	Mendelian inheritance	9321	TRIP11	OMIM:184260
HP:0034345	Mendelian inheritance	9321	TRIP11	OMIM:200600
HP:0034345	Mendelian inheritance	284217	LAMA1	OMIM:615960
HP:0034345	Mendelian inheritance	5591	PRKDC	OMIM:615966
HP:0034345	Mendelian inheritance	286262	TPRN	OMIM:613307
HP:0034345	Mendelian inheritance	7443	VRK1	OMIM:607596
HP:0034345	Mendelian inheritance	64902	AGXT2	OMIM:210100
HP:0034345	Mendelian inheritance	174	AFP	OMIM:615969
HP:0034345	Mendelian inheritance	29851	ICOS	OMIM:607594
HP:0034345	Mendelian inheritance	29851	ICOS	OMIM:240500
HP:0034345	Mendelian inheritance	4920	ROR2	OMIM:268310
HP:0034345	Mendelian inheritance	5122	PCSK1	OMIM:600955
HP:0034345	Mendelian inheritance	50484	RRM2B	OMIM:268315
HP:0034345	Mendelian inheritance	50484	RRM2B	OMIM:612075
HP:0034345	Mendelian inheritance	64218	SEMA4A	OMIM:610282
HP:0034345	Mendelian inheritance	64218	SEMA4A	OMIM:610283
HP:0034345	Mendelian inheritance	282809	POC1B	OMIM:615973
HP:0034345	Mendelian inheritance	729920	CRPPA	OMIM:614643
HP:0034345	Mendelian inheritance	729920	CRPPA	OMIM:616052
HP:0034345	Mendelian inheritance	2059	EPS8	OMIM:615974
HP:0034345	Mendelian inheritance	57654	UVSSA	OMIM:614640
HP:0034345	Mendelian inheritance	5167	ENPP1	OMIM:613312
HP:0034345	Mendelian inheritance	5167	ENPP1	OMIM:208000
HP:0034345	Mendelian inheritance	5167	ENPP1	OMIM:601665
HP:0034345	Mendelian inheritance	57817	HAMP	OMIM:613313
HP:0034345	Mendelian inheritance	1535	CYBA	OMIM:233690
HP:0034345	Mendelian inheritance	79791	FBXO31	OMIM:615979
HP:0034345	Mendelian inheritance	203859	ANO5	OMIM:613319
HP:0034345	Mendelian inheritance	203859	ANO5	OMIM:611307
HP:0034345	Mendelian inheritance	157570	ESCO2	OMIM:268300
HP:0034345	Mendelian inheritance	157570	ESCO2	OMIM:216100
HP:0034345	Mendelian inheritance	23636	NUP62	OMIM:271930
HP:0034345	Mendelian inheritance	9775	EIF4A3	OMIM:268305
HP:0034345	Mendelian inheritance	3991	LIPE	OMIM:615980
HP:0034345	Mendelian inheritance	51004	COQ6	OMIM:614650
HP:0034345	Mendelian inheritance	93183	PIGM	OMIM:610293
HP:0034345	Mendelian inheritance	55212	BBS7	OMIM:615984
HP:0034345	Mendelian inheritance	667	DST	OMIM:614653
HP:0034345	Mendelian inheritance	667	DST	OMIM:615425
HP:0034345	Mendelian inheritance	57017	COQ9	OMIM:614654
HP:0034345	Mendelian inheritance	51025	PAM16	OMIM:613320
HP:0034345	Mendelian inheritance	585	BBS4	OMIM:615982
HP:0034345	Mendelian inheritance	23590	PDSS1	OMIM:614651
HP:0034345	Mendelian inheritance	129880	BBS5	OMIM:615983
HP:0034345	Mendelian inheritance	57107	PDSS2	OMIM:614652
HP:0034345	Mendelian inheritance	22954	TRIM32	OMIM:615988
HP:0034345	Mendelian inheritance	22954	TRIM32	OMIM:254110
HP:0034345	Mendelian inheritance	166379	BBS12	OMIM:615989
HP:0034345	Mendelian inheritance	27241	BBS9	OMIM:615986
HP:0034345	Mendelian inheritance	1146	CHRNG	OMIM:253290
HP:0034345	Mendelian inheritance	1146	CHRNG	OMIM:265000
HP:0034345	Mendelian inheritance	1144	CHRND	OMIM:253290
HP:0034345	Mendelian inheritance	1144	CHRND	OMIM:616322
HP:0034345	Mendelian inheritance	1144	CHRND	OMIM:616323
HP:0034345	Mendelian inheritance	284119	CAVIN1	OMIM:613327
HP:0034345	Mendelian inheritance	79738	BBS10	OMIM:615987
HP:0034345	Mendelian inheritance	5054	SERPINE1	OMIM:613329
HP:0034345	Mendelian inheritance	90417	KNSTRN	OMIM:613328
HP:0034345	Mendelian inheritance	5293	PIK3CD	OMIM:613328
HP:0034345	Mendelian inheritance	5293	PIK3CD	OMIM:619281
HP:0034345	Mendelian inheritance	60495	HPSE2	OMIM:236730
HP:0034345	Mendelian inheritance	3075	CFH	OMIM:235400
HP:0034345	Mendelian inheritance	3075	CFH	OMIM:609814
HP:0034345	Mendelian inheritance	3078	CFHR1	OMIM:235400
HP:0034345	Mendelian inheritance	10878	CFHR3	OMIM:235400
HP:0034345	Mendelian inheritance	4038	LRP4	OMIM:212780
HP:0034345	Mendelian inheritance	4038	LRP4	OMIM:616304
HP:0034345	Mendelian inheritance	4038	LRP4	OMIM:614305
HP:0034345	Mendelian inheritance	1738	DLD	OMIM:246900
HP:0034345	Mendelian inheritance	201294	UNC13D	OMIM:608898
HP:0034345	Mendelian inheritance	51057	WDPCP	OMIM:615992
HP:0034345	Mendelian inheritance	51057	WDPCP	OMIM:217085
HP:0034345	Mendelian inheritance	579	NKX3-2	OMIM:613330
HP:0034345	Mendelian inheritance	54903	MKS1	OMIM:615990
HP:0034345	Mendelian inheritance	54903	MKS1	OMIM:617121
HP:0034345	Mendelian inheritance	54903	MKS1	OMIM:249000
HP:0034345	Mendelian inheritance	5193	PEX12	OMIM:266510
HP:0034345	Mendelian inheritance	5193	PEX12	OMIM:614859
HP:0034345	Mendelian inheritance	92482	BBIP1	OMIM:615995
HP:0034345	Mendelian inheritance	11020	IFT27	OMIM:615996
HP:0034345	Mendelian inheritance	2984	GUCY2C	OMIM:614665
HP:0034345	Mendelian inheritance	10806	SDCCAG8	OMIM:615993
HP:0034345	Mendelian inheritance	10806	SDCCAG8	OMIM:613615
HP:0034345	Mendelian inheritance	54585	LZTFL1	OMIM:615994
HP:0034345	Mendelian inheritance	213	ALB	OMIM:615999
HP:0034345	Mendelian inheritance	213	ALB	OMIM:616000
HP:0034345	Mendelian inheritance	5332	PLCB4	OMIM:614669
HP:0034345	Mendelian inheritance	411	ARSB	OMIM:253200
HP:0034345	Mendelian inheritance	91179	SCARF2	OMIM:600920
HP:0034345	Mendelian inheritance	5264	PHYH	OMIM:266500
HP:0034345	Mendelian inheritance	57798	GATAD1	OMIM:614672
HP:0034345	Mendelian inheritance	10525	HYOU1	OMIM:233600
HP:0034345	Mendelian inheritance	9662	CEP135	OMIM:614673
HP:0034345	Mendelian inheritance	3459	IFNGR1	OMIM:209950
HP:0034345	Mendelian inheritance	388389	CCDC103	OMIM:614679
HP:0034345	Mendelian inheritance	56997	COQ8A	OMIM:612016
HP:0034345	Mendelian inheritance	91869	RFT1	OMIM:612015
HP:0034345	Mendelian inheritance	51010	EXOSC3	OMIM:614678
HP:0034345	Mendelian inheritance	11093	ADAMTS13	OMIM:274150
HP:0034345	Mendelian inheritance	6301	SARS1	OMIM:617709
HP:0034345	Mendelian inheritance	56155	TEX14	OMIM:617707
HP:0034345	Mendelian inheritance	254528	MEIOB	OMIM:617706
HP:0034345	Mendelian inheritance	26224	FBXL3	OMIM:606220
HP:0034345	Mendelian inheritance	10908	PNPLA6	OMIM:612020
HP:0034345	Mendelian inheritance	10908	PNPLA6	OMIM:245800
HP:0034345	Mendelian inheritance	10908	PNPLA6	OMIM:215470
HP:0034345	Mendelian inheritance	10908	PNPLA6	OMIM:275400
HP:0034345	Mendelian inheritance	10352	WARS2	OMIM:617710
HP:0034345	Mendelian inheritance	10352	WARS2	OMIM:619738
HP:0034345	Mendelian inheritance	708	C1QBP	OMIM:617713
HP:0034345	Mendelian inheritance	124583	CANT1	OMIM:617719
HP:0034345	Mendelian inheritance	124583	CANT1	OMIM:251450
HP:0034345	Mendelian inheritance	10095	ARPC1B	OMIM:617718
HP:0034345	Mendelian inheritance	2232	FDXR	OMIM:617717
HP:0034345	Mendelian inheritance	2178	FANCE	OMIM:600901
HP:0034345	Mendelian inheritance	3758	KCNJ1	OMIM:241200
HP:0034345	Mendelian inheritance	55750	AGK	OMIM:614691
HP:0034345	Mendelian inheritance	55750	AGK	OMIM:212350
HP:0034345	Mendelian inheritance	1380	CR2	OMIM:614699
HP:0034345	Mendelian inheritance	1380	CR2	OMIM:240500
HP:0034345	Mendelian inheritance	55644	OSGEP	OMIM:617729
HP:0034345	Mendelian inheritance	4352	MPL	OMIM:604498
HP:0034345	Mendelian inheritance	112858	TP53RK	OMIM:617730
HP:0034345	Mendelian inheritance	163786	SASS6	OMIM:616402
HP:0034345	Mendelian inheritance	2548	GAA	OMIM:232300
HP:0034345	Mendelian inheritance	51002	TPRKB	OMIM:617731
HP:0034345	Mendelian inheritance	83737	ITCH	OMIM:613385
HP:0034345	Mendelian inheritance	197135	PATL2	OMIM:617743
HP:0034345	Mendelian inheritance	6569	SLC34A1	OMIM:613388
HP:0034345	Mendelian inheritance	6569	SLC34A1	OMIM:616963
HP:0034345	Mendelian inheritance	54805	CNNM2	OMIM:616418
HP:0034345	Mendelian inheritance	4913	NTHL1	OMIM:616415
HP:0034345	Mendelian inheritance	9215	LARGE1	OMIM:608840
HP:0034345	Mendelian inheritance	9215	LARGE1	OMIM:613154
HP:0034345	Mendelian inheritance	9215	LARGE1	OMIM:236670
HP:0034345	Mendelian inheritance	29929	ALG6	OMIM:603147
HP:0034345	Mendelian inheritance	5889	RAD51C	OMIM:613390
HP:0034345	Mendelian inheritance	374462	PTPRQ	OMIM:613391
HP:0034345	Mendelian inheritance	29920	PYCR2	OMIM:616420
HP:0034345	Mendelian inheritance	3889	KRT83	OMIM:617756
HP:0034345	Mendelian inheritance	1663	DDX11	OMIM:613398
HP:0034345	Mendelian inheritance	8575	PRKRA	OMIM:612067
HP:0034345	Mendelian inheritance	2990	GUSB	OMIM:253220
HP:0034345	Mendelian inheritance	51684	SUFU	OMIM:617757
HP:0034345	Mendelian inheritance	51684	SUFU	OMIM:155255
HP:0034345	Mendelian inheritance	9469	CHST3	OMIM:245600
HP:0034345	Mendelian inheritance	9469	CHST3	OMIM:143095
HP:0034345	Mendelian inheritance	26229	B3GAT3	OMIM:245600
HP:0034345	Mendelian inheritance	23404	EXOSC2	OMIM:617763
HP:0034345	Mendelian inheritance	55331	ACER3	OMIM:617762
HP:0034345	Mendelian inheritance	8803	SUCLA2	OMIM:612073
HP:0034345	Mendelian inheritance	153241	CEP120	OMIM:617761
HP:0034345	Mendelian inheritance	153241	CEP120	OMIM:616300
HP:0034345	Mendelian inheritance	92935	MARS2	OMIM:616430
HP:0034345	Mendelian inheritance	92935	MARS2	OMIM:611390
HP:0034345	Mendelian inheritance	56606	SLC2A9	OMIM:612076
HP:0034345	Mendelian inheritance	51776	MAP3K20	OMIM:617760
HP:0034345	Mendelian inheritance	51776	MAP3K20	OMIM:616890
HP:0034345	Mendelian inheritance	10464	PIBF1	OMIM:617767
HP:0034345	Mendelian inheritance	29089	UBE2T	OMIM:616435
HP:0034345	Mendelian inheritance	7372	UMPS	OMIM:258900
HP:0034345	Mendelian inheritance	1794	DOCK2	OMIM:616433
HP:0034345	Mendelian inheritance	55131	RBM28	OMIM:612079
HP:0034345	Mendelian inheritance	6647	SOD1	OMIM:105400
HP:0034345	Mendelian inheritance	6647	SOD1	OMIM:618598
HP:0034345	Mendelian inheritance	5630	PRPH	OMIM:105400
HP:0034345	Mendelian inheritance	1639	DCTN1	OMIM:105400
HP:0034345	Mendelian inheritance	4744	NEFH	OMIM:105400
HP:0034345	Mendelian inheritance	9990	SLC12A6	OMIM:218000
HP:0034345	Mendelian inheritance	261734	NPHP4	OMIM:606996
HP:0034345	Mendelian inheritance	261734	NPHP4	OMIM:606966
HP:0034345	Mendelian inheritance	6555	SLC10A2	OMIM:613291
HP:0034345	Mendelian inheritance	3071	NCKAP1L	OMIM:618982
HP:0034345	Mendelian inheritance	3998	LMAN1	OMIM:227300
HP:0034345	Mendelian inheritance	4593	MUSK	OMIM:616325
HP:0034345	Mendelian inheritance	4593	MUSK	OMIM:208150
HP:0034345	Mendelian inheritance	4919	ROR1	OMIM:617654
HP:0034345	Mendelian inheritance	5880	RAC2	OMIM:618987
HP:0034345	Mendelian inheritance	8291	DYSF	OMIM:253601
HP:0034345	Mendelian inheritance	8291	DYSF	OMIM:606768
HP:0034345	Mendelian inheritance	8291	DYSF	OMIM:254130
HP:0034345	Mendelian inheritance	825	CAPN3	OMIM:253600
HP:0034345	Mendelian inheritance	4552	MTRR	OMIM:236270
HP:0034345	Mendelian inheritance	4552	MTRR	OMIM:601634
HP:0034345	Mendelian inheritance	23498	HAAO	OMIM:617660
HP:0034345	Mendelian inheritance	4867	NPHP1	OMIM:266900
HP:0034345	Mendelian inheritance	4867	NPHP1	OMIM:609583
HP:0034345	Mendelian inheritance	4867	NPHP1	OMIM:256100
HP:0034345	Mendelian inheritance	65993	MRPS34	OMIM:617664
HP:0034345	Mendelian inheritance	1584	CYP11B1	OMIM:202010
HP:0034345	Mendelian inheritance	64412	GZF1	OMIM:617662
HP:0034345	Mendelian inheritance	387787	LIPT2	OMIM:617668
HP:0034345	Mendelian inheritance	6487	ST3GAL3	OMIM:615006
HP:0034345	Mendelian inheritance	6487	ST3GAL3	OMIM:611090
HP:0034345	Mendelian inheritance	23426	GRIP1	OMIM:617667
HP:0034345	Mendelian inheritance	27229	TUBGCP4	OMIM:616335
HP:0034345	Mendelian inheritance	341640	FREM2	OMIM:617666
HP:0034345	Mendelian inheritance	341640	FREM2	OMIM:123570
HP:0034345	Mendelian inheritance	10686	CLDN16	OMIM:248250
HP:0034345	Mendelian inheritance	51112	TRAPPC12	OMIM:617669
HP:0034345	Mendelian inheritance	8526	DGKE	OMIM:615008
HP:0034345	Mendelian inheritance	3508	IGHMBP2	OMIM:604320
HP:0034345	Mendelian inheritance	3508	IGHMBP2	OMIM:616155
HP:0034345	Mendelian inheritance	57082	KNL1	OMIM:604321
HP:0034345	Mendelian inheritance	55650	PIGV	OMIM:239300
HP:0034345	Mendelian inheritance	284403	WDR62	OMIM:604317
HP:0034345	Mendelian inheritance	6444	SGCD	OMIM:601287
HP:0034345	Mendelian inheritance	2212	FCGR2A	OMIM:219700
HP:0034345	Mendelian inheritance	1080	CFTR	OMIM:219700
HP:0034345	Mendelian inheritance	1080	CFTR	OMIM:277180
HP:0034345	Mendelian inheritance	9071	CLDN10	OMIM:617671
HP:0034345	Mendelian inheritance	55154	MSTO1	OMIM:617675
HP:0034345	Mendelian inheritance	103	ADAR	OMIM:615010
HP:0034345	Mendelian inheritance	1020	CDK5	OMIM:616342
HP:0034345	Mendelian inheritance	54757	FAM20A	OMIM:204690
HP:0034345	Mendelian inheritance	85007	PHYKPL	OMIM:615011
HP:0034345	Mendelian inheritance	3665	IRF7	OMIM:616345
HP:0034345	Mendelian inheritance	26154	ABCA12	OMIM:601277
HP:0034345	Mendelian inheritance	26154	ABCA12	OMIM:242500
HP:0034345	Mendelian inheritance	4620	MYH2	OMIM:605637
HP:0034345	Mendelian inheritance	4524	MTHFR	OMIM:236250
HP:0034345	Mendelian inheritance	4524	MTHFR	OMIM:601634
HP:0034345	Mendelian inheritance	567	B2M	OMIM:241600
HP:0034345	Mendelian inheritance	204219	CERS3	OMIM:615023
HP:0034345	Mendelian inheritance	57231	SNX14	OMIM:616354
HP:0034345	Mendelian inheritance	285848	PNPLA1	OMIM:615024
HP:0034345	Mendelian inheritance	5073	PARN	OMIM:616353
HP:0034345	Mendelian inheritance	23086	EXPH5	OMIM:615028
HP:0034345	Mendelian inheritance	950	SCARB2	OMIM:254900
HP:0034345	Mendelian inheritance	81794	ADAMTS10	OMIM:277600
HP:0034345	Mendelian inheritance	113612	CYP2U1	OMIM:615030
HP:0034345	Mendelian inheritance	9895	TECPR2	OMIM:615031
HP:0034345	Mendelian inheritance	402381	SOHLH1	OMIM:617690
HP:0034345	Mendelian inheritance	91574	MTRFR	OMIM:615035
HP:0034345	Mendelian inheritance	91574	MTRFR	OMIM:613559
HP:0034345	Mendelian inheritance	55773	TBC1D23	OMIM:617695
HP:0034345	Mendelian inheritance	8558	CDK10	OMIM:617694
HP:0034345	Mendelian inheritance	23259	DDHD2	OMIM:615033
HP:0034345	Mendelian inheritance	92609	TIMM50	OMIM:617698
HP:0034345	Mendelian inheritance	5836	PYGL	OMIM:232700
HP:0034345	Mendelian inheritance	58	ACTA1	OMIM:161800
HP:0034345	Mendelian inheritance	7173	TPO	OMIM:274500
HP:0034345	Mendelian inheritance	6101	RP1	OMIM:180100
HP:0034345	Mendelian inheritance	124590	USH1G	OMIM:606943
HP:0034345	Mendelian inheritance	10329	RXYLT1	OMIM:615041
HP:0034345	Mendelian inheritance	8818	DPM2	OMIM:615042
HP:0034345	Mendelian inheritance	122961	ISCA2	OMIM:616370
HP:0034345	Mendelian inheritance	83636	C19orf12	OMIM:615043
HP:0034345	Mendelian inheritance	83636	C19orf12	OMIM:614298
HP:0034345	Mendelian inheritance	3579	CXCR2	OMIM:619407
HP:0034345	Mendelian inheritance	10531	PITRM1	OMIM:619405
HP:0034345	Mendelian inheritance	3773	KCNJ16	OMIM:619406
HP:0034345	Mendelian inheritance	4351	MPI	OMIM:602579
HP:0034345	Mendelian inheritance	326	AIRE	OMIM:240300
HP:0034345	Mendelian inheritance	8565	YARS1	OMIM:619418
HP:0034345	Mendelian inheritance	345193	LRIT3	OMIM:615058
HP:0034345	Mendelian inheritance	5741	PTH	OMIM:146200
HP:0034345	Mendelian inheritance	2779	GNAT1	OMIM:616389
HP:0034345	Mendelian inheritance	286204	CRB2	OMIM:219730
HP:0034345	Mendelian inheritance	286204	CRB2	OMIM:616220
HP:0034345	Mendelian inheritance	1967	EIF2B1	OMIM:603896
HP:0034345	Mendelian inheritance	2697	GJA1	OMIM:218400
HP:0034345	Mendelian inheritance	2697	GJA1	OMIM:257850
HP:0034345	Mendelian inheritance	5959	RDH5	OMIM:136880
HP:0034345	Mendelian inheritance	6010	RHO	OMIM:136880
HP:0034345	Mendelian inheritance	6010	RHO	OMIM:613731
HP:0034345	Mendelian inheritance	6017	RLBP1	OMIM:136880
HP:0034345	Mendelian inheritance	6017	RLBP1	OMIM:607476
HP:0034345	Mendelian inheritance	6017	RLBP1	OMIM:607475
HP:0034345	Mendelian inheritance	2071	ERCC3	OMIM:616390
HP:0034345	Mendelian inheritance	2071	ERCC3	OMIM:610651
HP:0034345	Mendelian inheritance	85300	ATCAY	OMIM:601238
HP:0034345	Mendelian inheritance	404672	GTF2H5	OMIM:616395
HP:0034345	Mendelian inheritance	26160	IFT172	OMIM:616394
HP:0034345	Mendelian inheritance	26160	IFT172	OMIM:619471
HP:0034345	Mendelian inheritance	26160	IFT172	OMIM:615630
HP:0034345	Mendelian inheritance	10533	ATG7	OMIM:619422
HP:0034345	Mendelian inheritance	205327	C2orf69	OMIM:619423
HP:0034345	Mendelian inheritance	4633	MYL2	OMIM:619424
HP:0034345	Mendelian inheritance	93233	ODAD1	OMIM:615067
HP:0034345	Mendelian inheritance	9427	ECEL1	OMIM:615065
HP:0034345	Mendelian inheritance	55151	TMEM38B	OMIM:615066
HP:0034345	Mendelian inheritance	344	APOC2	OMIM:207750
HP:0034345	Mendelian inheritance	2583	B4GALNT1	OMIM:609195
HP:0034345	Mendelian inheritance	11232	POLG2	OMIM:619425
HP:0034345	Mendelian inheritance	11232	POLG2	OMIM:618528
HP:0034345	Mendelian inheritance	389827	MYMK	OMIM:254940
HP:0034345	Mendelian inheritance	51574	LARP7	OMIM:615071
HP:0034345	Mendelian inheritance	65992	DDRGK1	OMIM:602557
HP:0034345	Mendelian inheritance	10112	KIF20A	OMIM:619433
HP:0034345	Mendelian inheritance	84894	LINGO1	OMIM:618103
HP:0034345	Mendelian inheritance	10765	KDM5B	OMIM:618109
HP:0034345	Mendelian inheritance	27148	STK36	OMIM:619436
HP:0034345	Mendelian inheritance	9526	MPDU1	OMIM:609180
HP:0034345	Mendelian inheritance	8737	RIPK1	OMIM:618108
HP:0034345	Mendelian inheritance	5428	POLG	OMIM:258450
HP:0034345	Mendelian inheritance	5428	POLG	OMIM:607459
HP:0034345	Mendelian inheritance	5428	POLG	OMIM:603041
HP:0034345	Mendelian inheritance	5428	POLG	OMIM:203700
HP:0034345	Mendelian inheritance	5428	POLG	OMIM:613662
HP:0034345	Mendelian inheritance	1120	CHKB	OMIM:602541
HP:0034345	Mendelian inheritance	4054	LTBP3	OMIM:601216
HP:0034345	Mendelian inheritance	3728	JUP	OMIM:601214
HP:0034345	Mendelian inheritance	29887	SNX10	OMIM:615085
HP:0034345	Mendelian inheritance	83449	PMFBP1	OMIM:618112
HP:0034345	Mendelian inheritance	6809	STX3	OMIM:619445
HP:0034345	Mendelian inheritance	6809	STX3	OMIM:619446
HP:0034345	Mendelian inheritance	92667	MGME1	OMIM:615084
HP:0034345	Mendelian inheritance	8492	PRSS12	OMIM:249500
HP:0034345	Mendelian inheritance	51163	DBR1	OMIM:619441
HP:0034345	Mendelian inheritance	122402	TDRD9	OMIM:618110
HP:0034345	Mendelian inheritance	114803	MYSM1	OMIM:618116
HP:0034345	Mendelian inheritance	2250	FGF5	OMIM:190330
HP:0034345	Mendelian inheritance	4041	LRP5	OMIM:259770
HP:0034345	Mendelian inheritance	4041	LRP5	OMIM:601813
HP:0034345	Mendelian inheritance	176	ACAN	OMIM:612813
HP:0034345	Mendelian inheritance	23218	NBEAL2	OMIM:139090
HP:0034345	Mendelian inheritance	56975	FAM20C	OMIM:259775
HP:0034345	Mendelian inheritance	55249	YY1AP1	OMIM:602531
HP:0034345	Mendelian inheritance	2735	GLI1	OMIM:618123
HP:0034345	Mendelian inheritance	2735	GLI1	OMIM:174400
HP:0034345	Mendelian inheritance	8888	MCM3AP	OMIM:618124
HP:0034345	Mendelian inheritance	63925	ZNF335	OMIM:615095
HP:0034345	Mendelian inheritance	513	ATP5F1D	OMIM:618120
HP:0034345	Mendelian inheritance	4052	LTBP1	OMIM:619451
HP:0034345	Mendelian inheritance	81788	NUAK2	OMIM:619452
HP:0034345	Mendelian inheritance	27341	RRP7A	OMIM:619453
HP:0034345	Mendelian inheritance	5077	PAX3	OMIM:148820
HP:0034345	Mendelian inheritance	7809	BSND	OMIM:602522
HP:0034345	Mendelian inheritance	3155	HMGCL	OMIM:246450
HP:0034345	Mendelian inheritance	2064	ERBB2	OMIM:619465
HP:0034345	Mendelian inheritance	84892	POMGNT2	OMIM:618135
HP:0034345	Mendelian inheritance	84892	POMGNT2	OMIM:614830
HP:0034345	Mendelian inheritance	7161	TP73	OMIM:619466
HP:0034345	Mendelian inheritance	254428	SLC41A1	OMIM:619468
HP:0034345	Mendelian inheritance	127833	SYT2	OMIM:619461
HP:0034345	Mendelian inheritance	146206	CARMIL2	OMIM:618131
HP:0034345	Mendelian inheritance	55340	GIMAP5	OMIM:619463
HP:0034345	Mendelian inheritance	3908	LAMA2	OMIM:618138
HP:0034345	Mendelian inheritance	3908	LAMA2	OMIM:607855
HP:0034345	Mendelian inheritance	1244	ABCC2	OMIM:237500
HP:0034345	Mendelian inheritance	84065	TMEM222	OMIM:619470
HP:0034345	Mendelian inheritance	24	ABCA4	OMIM:248200
HP:0034345	Mendelian inheritance	24	ABCA4	OMIM:604116
HP:0034345	Mendelian inheritance	24	ABCA4	OMIM:601718
HP:0034345	Mendelian inheritance	10205	MPZL2	OMIM:618145
HP:0034345	Mendelian inheritance	9851	KIAA0753	OMIM:619476
HP:0034345	Mendelian inheritance	9851	KIAA0753	OMIM:619479
HP:0034345	Mendelian inheritance	9851	KIAA0753	OMIM:617127
HP:0034345	Mendelian inheritance	8991	SELENBP1	OMIM:618148
HP:0034345	Mendelian inheritance	10526	IPO8	OMIM:619472
HP:0034345	Mendelian inheritance	348180	CTU2	OMIM:618142
HP:0034345	Mendelian inheritance	94005	PIGS	OMIM:618143
HP:0034345	Mendelian inheritance	55651	NHP2	OMIM:224230
HP:0034345	Mendelian inheritance	55651	NHP2	OMIM:613987
HP:0034345	Mendelian inheritance	55505	NOP10	OMIM:224230
HP:0034345	Mendelian inheritance	22901	ARSG	OMIM:618144
HP:0034345	Mendelian inheritance	3257	HPS1	OMIM:203300
HP:0034345	Mendelian inheritance	83706	FERMT3	OMIM:612840
HP:0034345	Mendelian inheritance	9060	PAPSS2	OMIM:612847
HP:0034345	Mendelian inheritance	123264	SLC51B	OMIM:619481
HP:0034345	Mendelian inheritance	283446	MYO1H	OMIM:619482
HP:0034345	Mendelian inheritance	3709	ITPR2	OMIM:106190
HP:0034345	Mendelian inheritance	3636	INPPL1	OMIM:258480
HP:0034345	Mendelian inheritance	2222	FDFT1	OMIM:618156
HP:0034345	Mendelian inheritance	100147744	RNU7-1	OMIM:619487
HP:0034345	Mendelian inheritance	374879	ZNF699	OMIM:619488
HP:0034345	Mendelian inheritance	2692	GHRHR	OMIM:618157
HP:0034345	Mendelian inheritance	60676	PAPPA2	OMIM:619489
HP:0034345	Mendelian inheritance	144406	CFAP251	OMIM:618152
HP:0034345	Mendelian inheritance	10660	LBX1	OMIM:619483
HP:0034345	Mendelian inheritance	401024	FSIP2	OMIM:618153
HP:0034345	Mendelian inheritance	200931	SLC51A	OMIM:619484
HP:0034345	Mendelian inheritance	9508	ADAMTS3	OMIM:618154
HP:0034345	Mendelian inheritance	4617	MYF5	OMIM:618155
HP:0034345	Mendelian inheritance	134353	LSM11	OMIM:619486
HP:0034345	Mendelian inheritance	3557	IL1RN	OMIM:612852
HP:0034345	Mendelian inheritance	7297	TYK2	OMIM:611521
HP:0034345	Mendelian inheritance	54977	SLC25A38	OMIM:205950
HP:0034345	Mendelian inheritance	57038	RARS2	OMIM:611523
HP:0034345	Mendelian inheritance	50485	SMARCAL1	OMIM:242900
HP:0034345	Mendelian inheritance	4645	MYO5B	OMIM:251850
HP:0034345	Mendelian inheritance	4645	MYO5B	OMIM:619868
HP:0034345	Mendelian inheritance	55599	RNPC3	OMIM:618160
HP:0034345	Mendelian inheritance	3766	KCNJ10	OMIM:600791
HP:0034345	Mendelian inheritance	3766	KCNJ10	OMIM:612780
HP:0034345	Mendelian inheritance	3766	KCNJ10	OMIM:274600
HP:0034345	Mendelian inheritance	2299	FOXI1	OMIM:600791
HP:0034345	Mendelian inheritance	2299	FOXI1	OMIM:274600
HP:0034345	Mendelian inheritance	5172	SLC26A4	OMIM:600791
HP:0034345	Mendelian inheritance	5172	SLC26A4	OMIM:274600
HP:0034345	Mendelian inheritance	403	ARL3	OMIM:618161
HP:0034345	Mendelian inheritance	57158	JPH2	OMIM:619492
HP:0034345	Mendelian inheritance	23387	SIK3	OMIM:618162
HP:0034345	Mendelian inheritance	80267	EDEM3	OMIM:619493
HP:0034345	Mendelian inheritance	50515	CHST11	OMIM:618167
HP:0034345	Mendelian inheritance	7482	WNT2B	OMIM:618168
HP:0034345	Mendelian inheritance	4256	MGP	OMIM:245150
HP:0034345	Mendelian inheritance	10117	ENAM	OMIM:204650
HP:0034345	Mendelian inheritance	875	CBS	OMIM:236200
HP:0034345	Mendelian inheritance	283989	TSEN54	OMIM:610204
HP:0034345	Mendelian inheritance	283989	TSEN54	OMIM:277470
HP:0034345	Mendelian inheritance	283989	TSEN54	OMIM:225753
HP:0034345	Mendelian inheritance	54936	ADPRS	OMIM:618170
HP:0034345	Mendelian inheritance	23279	NUP160	OMIM:618178
HP:0034345	Mendelian inheritance	79023	NUP37	OMIM:618179
HP:0034345	Mendelian inheritance	118429	ANTXR2	OMIM:228600
HP:0034345	Mendelian inheritance	26119	LDLRAP1	OMIM:603813
HP:0034345	Mendelian inheritance	1496	CTNNA2	OMIM:618174
HP:0034345	Mendelian inheritance	79902	NUP85	OMIM:618176
HP:0034345	Mendelian inheritance	51473	DCDC2	OMIM:610212
HP:0034345	Mendelian inheritance	51473	DCDC2	OMIM:616217
HP:0034345	Mendelian inheritance	51473	DCDC2	OMIM:617394
HP:0034345	Mendelian inheritance	6559	SLC12A3	OMIM:263800
HP:0034345	Mendelian inheritance	1414	CRYBB1	OMIM:611544
HP:0034345	Mendelian inheritance	284111	SLC13A5	OMIM:615905
HP:0034345	Mendelian inheritance	1829	DSG2	OMIM:612877
HP:0034345	Mendelian inheritance	2760	GM2A	OMIM:272750
HP:0034345	Mendelian inheritance	85016	CFAP300	OMIM:618063
HP:0034345	Mendelian inheritance	8323	FZD6	OMIM:161050
HP:0034345	Mendelian inheritance	5393	EXOSC9	OMIM:618065
HP:0034345	Mendelian inheritance	27178	IL37	OMIM:619398
HP:0034345	Mendelian inheritance	10312	TCIRG1	OMIM:259700
HP:0034345	Mendelian inheritance	730	C7	OMIM:610102
HP:0034345	Mendelian inheritance	79083	MLPH	OMIM:609227
HP:0034345	Mendelian inheritance	5352	PLOD2	OMIM:609220
HP:0034345	Mendelian inheritance	2153	F5	OMIM:600880
HP:0034345	Mendelian inheritance	2153	F5	OMIM:227400
HP:0034345	Mendelian inheritance	3717	JAK2	OMIM:600880
HP:0034345	Mendelian inheritance	146167	SLC38A8	OMIM:609218
HP:0034345	Mendelian inheritance	57222	ERGIC1	OMIM:208100
HP:0034345	Mendelian inheritance	51506	UFC1	OMIM:618076
HP:0034345	Mendelian inheritance	8754	ADAM9	OMIM:612775
HP:0034345	Mendelian inheritance	80055	PGAP1	OMIM:615802
HP:0034345	Mendelian inheritance	10978	CLP1	OMIM:615803
HP:0034345	Mendelian inheritance	271	AMPD2	OMIM:615809
HP:0034345	Mendelian inheritance	271	AMPD2	OMIM:615686
HP:0034345	Mendelian inheritance	1763	DNA2	OMIM:615807
HP:0034345	Mendelian inheritance	525	ATP6V1B1	OMIM:267300
HP:0034345	Mendelian inheritance	388698	FLG2	OMIM:618084
HP:0034345	Mendelian inheritance	3043	HBB	OMIM:603903
HP:0034345	Mendelian inheritance	57697	FANCM	OMIM:618086
HP:0034345	Mendelian inheritance	57697	FANCM	OMIM:618096
HP:0034345	Mendelian inheritance	84876	ORAI1	OMIM:612782
HP:0034345	Mendelian inheritance	220074	LRTOMT	OMIM:611451
HP:0034345	Mendelian inheritance	6261	RYR1	OMIM:255320
HP:0034345	Mendelian inheritance	6261	RYR1	OMIM:117000
HP:0034345	Mendelian inheritance	3988	LIPA	OMIM:278000
HP:0034345	Mendelian inheritance	2688	GH1	OMIM:612781
HP:0034345	Mendelian inheritance	2688	GH1	OMIM:262400
HP:0034345	Mendelian inheritance	2688	GH1	OMIM:262650
HP:0034345	Mendelian inheritance	6786	STIM1	OMIM:612783
HP:0034345	Mendelian inheritance	26504	CNNM4	OMIM:217080
HP:0034345	Mendelian inheritance	5238	PGM3	OMIM:615816
HP:0034345	Mendelian inheritance	1509	CTSD	OMIM:610127
HP:0034345	Mendelian inheritance	23325	WASHC4	OMIM:615817
HP:0034345	Mendelian inheritance	2645	GCK	OMIM:606176
HP:0034345	Mendelian inheritance	1690	COCH	OMIM:618094
HP:0034345	Mendelian inheritance	815	CAMK2A	OMIM:618095
HP:0034345	Mendelian inheritance	80856	LNPK	OMIM:618090
HP:0034345	Mendelian inheritance	6691	SPINK2	OMIM:618091
HP:0034345	Mendelian inheritance	7156	TOP3A	OMIM:618097
HP:0034345	Mendelian inheritance	7156	TOP3A	OMIM:618098
HP:0034345	Mendelian inheritance	84300	UQCC2	OMIM:615824
HP:0034345	Mendelian inheritance	113235	SLC46A1	OMIM:229050
HP:0034345	Mendelian inheritance	4607	MYBPC3	OMIM:115197
HP:0034345	Mendelian inheritance	3035	HARS1	OMIM:614504
HP:0034345	Mendelian inheritance	79753	SNIP1	OMIM:614501
HP:0034345	Mendelian inheritance	25977	NECAP1	OMIM:615833
HP:0034345	Mendelian inheritance	90624	LYRM7	OMIM:615838
HP:0034345	Mendelian inheritance	1650	DDOST	OMIM:614507
HP:0034345	Mendelian inheritance	643226	GRXCR2	OMIM:615837
HP:0034345	Mendelian inheritance	80704	SLC19A3	OMIM:607483
HP:0034345	Mendelian inheritance	4036	LRP2	OMIM:222448
HP:0034345	Mendelian inheritance	6875	TAF4B	OMIM:615841
HP:0034345	Mendelian inheritance	84225	ZMYND15	OMIM:615842
HP:0034345	Mendelian inheritance	153562	MARVELD2	OMIM:610153
HP:0034345	Mendelian inheritance	107	ADCY1	OMIM:610154
HP:0034345	Mendelian inheritance	5627	PROS1	OMIM:614514
HP:0034345	Mendelian inheritance	5340	PLG	OMIM:217090
HP:0034345	Mendelian inheritance	1910	EDNRB	OMIM:277580
HP:0034345	Mendelian inheritance	1910	EDNRB	OMIM:600501
HP:0034345	Mendelian inheritance	866	SERPINA6	OMIM:611489
HP:0034345	Mendelian inheritance	2488	FSHB	OMIM:229070
HP:0034345	Mendelian inheritance	137814	NKX2-6	OMIM:217095
HP:0034345	Mendelian inheritance	1482	NKX2-5	OMIM:217095
HP:0034345	Mendelian inheritance	6899	TBX1	OMIM:217095
HP:0034345	Mendelian inheritance	2627	GATA6	OMIM:217095
HP:0034345	Mendelian inheritance	760	CA2	OMIM:259730
HP:0034345	Mendelian inheritance	79001	VKORC1	OMIM:607473
HP:0034345	Mendelian inheritance	8813	DPM1	OMIM:608799
HP:0034345	Mendelian inheritance	2121	EVC	OMIM:225500
HP:0034345	Mendelian inheritance	132884	EVC2	OMIM:225500
HP:0034345	Mendelian inheritance	1186	CLCN7	OMIM:611490
HP:0034345	Mendelian inheritance	9652	SKIC3	OMIM:222470
HP:0034345	Mendelian inheritance	919	CD247	OMIM:610163
HP:0034345	Mendelian inheritance	9842	PLEKHM1	OMIM:611497
HP:0034345	Mendelian inheritance	55275	VPS53	OMIM:615851
HP:0034345	Mendelian inheritance	84662	GLIS2	OMIM:611498
HP:0034345	Mendelian inheritance	1302	COL11A2	OMIM:614524
HP:0034345	Mendelian inheritance	1302	COL11A2	OMIM:215150
HP:0034345	Mendelian inheritance	1302	COL11A2	OMIM:609706
HP:0034345	Mendelian inheritance	85440	DOCK7	OMIM:615859
HP:0034345	Mendelian inheritance	28962	OSTM1	OMIM:259720
HP:0034345	Mendelian inheritance	23093	TTLL5	OMIM:615860
HP:0034345	Mendelian inheritance	8694	DGAT1	OMIM:615863
HP:0034345	Mendelian inheritance	2013	EMP2	OMIM:615861
HP:0034345	Mendelian inheritance	51134	CEP83	OMIM:615862
HP:0034345	Mendelian inheritance	3679	ITGA7	OMIM:613204
HP:0034345	Mendelian inheritance	54704	PDP1	OMIM:608782
HP:0034345	Mendelian inheritance	6524	SLC5A2	OMIM:233100
HP:0034345	Mendelian inheritance	8600	TNFSF11	OMIM:259710
HP:0034345	Mendelian inheritance	6708	SPTA1	OMIM:270970
HP:0034345	Mendelian inheritance	6708	SPTA1	OMIM:266140
HP:0034345	Mendelian inheritance	91949	COG7	OMIM:608779
HP:0034345	Mendelian inheritance	79621	RNASEH2B	OMIM:610181
HP:0034345	Mendelian inheritance	256764	WDR72	OMIM:613211
HP:0034345	Mendelian inheritance	124997	WDR81	OMIM:610185
HP:0034345	Mendelian inheritance	124997	WDR81	OMIM:617967
HP:0034345	Mendelian inheritance	5648	MASP1	OMIM:257920
HP:0034345	Mendelian inheritance	10309	CCNO	OMIM:615872
HP:0034345	Mendelian inheritance	117581	TWIST2	OMIM:227260
HP:0034345	Mendelian inheritance	9414	TJP2	OMIM:615878
HP:0034345	Mendelian inheritance	9414	TJP2	OMIM:607748
HP:0034345	Mendelian inheritance	4072	EPCAM	OMIM:613217
HP:0034345	Mendelian inheritance	4308	TRPM1	OMIM:613216
HP:0034345	Mendelian inheritance	10586	MAB21L2	OMIM:615877
HP:0034345	Mendelian inheritance	79796	ALG9	OMIM:608776
HP:0034345	Mendelian inheritance	79796	ALG9	OMIM:263210
HP:0034345	Mendelian inheritance	3718	JAK3	OMIM:600802
HP:0034345	Mendelian inheritance	7306	TYRP1	OMIM:203290
HP:0034345	Mendelian inheritance	5244	ABCB4	OMIM:600803
HP:0034345	Mendelian inheritance	5244	ABCB4	OMIM:602347
HP:0034345	Mendelian inheritance	5244	ABCB4	OMIM:614972
HP:0034345	Mendelian inheritance	6652	SORD	OMIM:618912
HP:0034345	Mendelian inheritance	131118	DNAJC19	OMIM:610198
HP:0034345	Mendelian inheritance	83479	DDX59	OMIM:174300
HP:0034345	Mendelian inheritance	169792	GLIS3	OMIM:610199
HP:0034345	Mendelian inheritance	57505	AARS2	OMIM:615889
HP:0034345	Mendelian inheritance	57505	AARS2	OMIM:614096
HP:0034345	Mendelian inheritance	2162	F13A1	OMIM:613225
HP:0034345	Mendelian inheritance	50	ACO2	OMIM:614559
HP:0034345	Mendelian inheritance	50	ACO2	OMIM:616289
HP:0034345	Mendelian inheritance	55152	DALRD3	OMIM:618910
HP:0034345	Mendelian inheritance	123041	SLC24A4	OMIM:615887
HP:0034345	Mendelian inheritance	55033	FKBP14	OMIM:614557
HP:0034345	Mendelian inheritance	767	CA8	OMIM:613227
HP:0034345	Mendelian inheritance	10235	RASGRP2	OMIM:615888
HP:0034345	Mendelian inheritance	27235	COQ2	OMIM:607426
HP:0034345	Mendelian inheritance	27235	COQ2	OMIM:146500
HP:0034345	Mendelian inheritance	727676	SNORD118	OMIM:614561
HP:0034345	Mendelian inheritance	440435	GPR179	OMIM:614565
HP:0034345	Mendelian inheritance	1503	CTPS1	OMIM:615897
HP:0034345	Mendelian inheritance	2165	F13B	OMIM:613235
HP:0034345	Mendelian inheritance	10616	RBCK1	OMIM:615895
HP:0034345	Mendelian inheritance	5837	PYGM	OMIM:232600
HP:0034345	Mendelian inheritance	2917	GRM7	OMIM:618922
HP:0034345	Mendelian inheritance	4634	MYL3	OMIM:608751
HP:0034345	Mendelian inheritance	4361	MRE11	OMIM:604391
HP:0034345	Mendelian inheritance	55764	IFT122	OMIM:218330
HP:0034345	Mendelian inheritance	717	C2	OMIM:217000
HP:0034345	Mendelian inheritance	51185	CRBN	OMIM:607417
HP:0034345	Mendelian inheritance	3479	IGF1	OMIM:608747
HP:0034345	Mendelian inheritance	57511	COG6	OMIM:614576
HP:0034345	Mendelian inheritance	57511	COG6	OMIM:615328
HP:0034345	Mendelian inheritance	79415	CYBC1	OMIM:618935
HP:0034345	Mendelian inheritance	149461	CLDN19	OMIM:248190
HP:0034345	Mendelian inheritance	5981	RFC1	OMIM:614575
HP:0034345	Mendelian inheritance	29980	DONSON	OMIM:617604
HP:0034345	Mendelian inheritance	29980	DONSON	OMIM:251230
HP:0034345	Mendelian inheritance	9863	MAGI2	OMIM:617609
HP:0034345	Mendelian inheritance	9997	SCO2	OMIM:604377
HP:0034345	Mendelian inheritance	200879	LIPH	OMIM:604379
HP:0034345	Mendelian inheritance	11222	MRPL3	OMIM:614582
HP:0034345	Mendelian inheritance	81689	ISCA1	OMIM:617613
HP:0034345	Mendelian inheritance	2517	FUCA1	OMIM:230000
HP:0034345	Mendelian inheritance	5333	PLCD1	OMIM:151600
HP:0034345	Mendelian inheritance	1861	TOR1A	OMIM:618947
HP:0034345	Mendelian inheritance	199221	DZIP1L	OMIM:617610
HP:0034345	Mendelian inheritance	55329	MNS1	OMIM:618948
HP:0034345	Mendelian inheritance	219285	SAMD9L	OMIM:252270
HP:0034345	Mendelian inheritance	3570	IL6R	OMIM:618944
HP:0034345	Mendelian inheritance	1890	TYMP	OMIM:603041
HP:0034345	Mendelian inheritance	4148	MATN3	OMIM:608728
HP:0034345	Mendelian inheritance	26503	SLC17A5	OMIM:604369
HP:0034345	Mendelian inheritance	26503	SLC17A5	OMIM:269920
HP:0034345	Mendelian inheritance	55617	TASP1	OMIM:618950
HP:0034345	Mendelian inheritance	6182	MRPL12	OMIM:618951
HP:0034345	Mendelian inheritance	1908	EDN3	OMIM:613265
HP:0034345	Mendelian inheritance	3098	HK1	OMIM:235700
HP:0034345	Mendelian inheritance	3098	HK1	OMIM:605285
HP:0034345	Mendelian inheritance	28957	MRPS28	OMIM:618958
HP:0034345	Mendelian inheritance	80210	ARMC9	OMIM:617622
HP:0034345	Mendelian inheritance	4190	MDH1	OMIM:618959
HP:0034345	Mendelian inheritance	51649	MRPS23	OMIM:618952
HP:0034345	Mendelian inheritance	8292	COLQ	OMIM:603034
HP:0034345	Mendelian inheritance	113246	C12orf57	OMIM:218340
HP:0034345	Mendelian inheritance	80208	SPG11	OMIM:604360
HP:0034345	Mendelian inheritance	80208	SPG11	OMIM:602099
HP:0034345	Mendelian inheritance	80208	SPG11	OMIM:616668
HP:0034345	Mendelian inheritance	259266	ASPM	OMIM:608716
HP:0034345	Mendelian inheritance	5331	PLCB3	OMIM:618961
HP:0034345	Mendelian inheritance	7515	XRCC1	OMIM:617633
HP:0034345	Mendelian inheritance	23558	WBP2	OMIM:617639
HP:0034345	Mendelian inheritance	3458	IFNG	OMIM:618963
HP:0034345	Mendelian inheritance	57728	WDR19	OMIM:616307
HP:0034345	Mendelian inheritance	57728	WDR19	OMIM:614378
HP:0034345	Mendelian inheritance	57728	WDR19	OMIM:614376
HP:0034345	Mendelian inheritance	57728	WDR19	OMIM:614377
HP:0034345	Mendelian inheritance	57728	WDR19	OMIM:619867
HP:0034345	Mendelian inheritance	64787	EPS8L2	OMIM:617637
HP:0034345	Mendelian inheritance	5205	ATP8B1	OMIM:243300
HP:0034345	Mendelian inheritance	5205	ATP8B1	OMIM:211600
HP:0034345	Mendelian inheritance	1832	DSP	OMIM:605676
HP:0034345	Mendelian inheritance	1832	DSP	OMIM:609638
HP:0034345	Mendelian inheritance	9699	RIMS2	OMIM:618970
HP:0034345	Mendelian inheritance	55532	SLC30A10	OMIM:613280
HP:0034345	Mendelian inheritance	1468	SLC25A10	OMIM:618972
HP:0034345	Mendelian inheritance	8884	SLC5A6	OMIM:618973
HP:0034345	Mendelian inheritance	8884	SLC5A6	OMIM:619903
HP:0034345	Mendelian inheritance	23288	IQCE	OMIM:617642
HP:0034345	Mendelian inheritance	389207	GRXCR1	OMIM:613285
HP:0034345	Mendelian inheritance	1140	CHRNB1	OMIM:616314
HP:0034345	Mendelian inheritance	676	BRDT	OMIM:617644
HP:0034345	Mendelian inheritance	3778	KCNMA1	OMIM:617643
HP:0034345	Mendelian inheritance	4654	MYOD1	OMIM:618975
HP:0034345	Mendelian inheritance	1409	CRYAA	OMIM:604219
HP:0034345	Mendelian inheritance	29899	GPSM2	OMIM:604213
HP:0034345	Mendelian inheritance	104	ADARB1	OMIM:618862
HP:0034345	Mendelian inheritance	91452	ACBD5	OMIM:618863
HP:0034345	Mendelian inheritance	151648	SGO1	OMIM:616201
HP:0034345	Mendelian inheritance	50651	SLC45A1	OMIM:617532
HP:0034345	Mendelian inheritance	83932	SPRTN	OMIM:616200
HP:0034345	Mendelian inheritance	8029	CUBN	OMIM:261100
HP:0034345	Mendelian inheritance	8029	CUBN	OMIM:618884
HP:0034345	Mendelian inheritance	23446	SLC44A1	OMIM:618868
HP:0034345	Mendelian inheritance	2895	GRID2	OMIM:616204
HP:0034345	Mendelian inheritance	8425	LTBP4	OMIM:613177
HP:0034345	Mendelian inheritance	2972	BRF1	OMIM:616202
HP:0034345	Mendelian inheritance	4860	PNP	OMIM:613179
HP:0034345	Mendelian inheritance	64220	STRA6	OMIM:601186
HP:0034345	Mendelian inheritance	249	ALPL	OMIM:241500
HP:0034345	Mendelian inheritance	249	ALPL	OMIM:241510
HP:0034345	Mendelian inheritance	249	ALPL	OMIM:146300
HP:0034345	Mendelian inheritance	10300	KATNB1	OMIM:616212
HP:0034345	Mendelian inheritance	51741	WWOX	OMIM:616211
HP:0034345	Mendelian inheritance	51741	WWOX	OMIM:614322
HP:0034345	Mendelian inheritance	1630	DCC	OMIM:617542
HP:0034345	Mendelian inheritance	55790	CSGALNACT1	OMIM:618870
HP:0034345	Mendelian inheritance	1723	DHODH	OMIM:263750
HP:0034345	Mendelian inheritance	755	CFAP410	OMIM:617547
HP:0034345	Mendelian inheritance	755	CFAP410	OMIM:602271
HP:0034345	Mendelian inheritance	10026	PIGK	OMIM:618879
HP:0034345	Mendelian inheritance	375387	NRROS	OMIM:618875
HP:0034345	Mendelian inheritance	472	ATM	OMIM:208900
HP:0034345	Mendelian inheritance	84570	COL25A1	OMIM:616219
HP:0034345	Mendelian inheritance	1476	CSTB	OMIM:254800
HP:0034345	Mendelian inheritance	64175	P3H1	OMIM:610915
HP:0034345	Mendelian inheritance	220202	ATOH7	OMIM:221900
HP:0034345	Mendelian inheritance	9289	ADGRG1	OMIM:606854
HP:0034345	Mendelian inheritance	9289	ADGRG1	OMIM:615752
HP:0034345	Mendelian inheritance	81693	AMN	OMIM:618882
HP:0034345	Mendelian inheritance	83696	TRAPPC9	OMIM:613192
HP:0034345	Mendelian inheritance	9247	GCM2	OMIM:618883
HP:0034345	Mendelian inheritance	2590	GALNT2	OMIM:618885
HP:0034345	Mendelian inheritance	123872	DNAAF1	OMIM:613193
HP:0034345	Mendelian inheritance	170691	ADAMTS17	OMIM:613195
HP:0034345	Mendelian inheritance	3694	ITGB6	OMIM:616221
HP:0034345	Mendelian inheritance	130589	GALM	OMIM:618881
HP:0034345	Mendelian inheritance	199857	ALG14	OMIM:616227
HP:0034345	Mendelian inheritance	199857	ALG14	OMIM:619031
HP:0034345	Mendelian inheritance	199857	ALG14	OMIM:619036
HP:0034345	Mendelian inheritance	9581	PREPL	OMIM:616224
HP:0034345	Mendelian inheritance	6773	STAT2	OMIM:618886
HP:0034345	Mendelian inheritance	6773	STAT2	OMIM:616636
HP:0034345	Mendelian inheritance	90993	CREB3L1	OMIM:616229
HP:0034345	Mendelian inheritance	23761	PISD	OMIM:618889
HP:0034345	Mendelian inheritance	85365	ALG2	OMIM:616228
HP:0034345	Mendelian inheritance	85365	ALG2	OMIM:607906
HP:0034345	Mendelian inheritance	21	ABCA3	OMIM:610921
HP:0034345	Mendelian inheritance	157680	VPS13B	OMIM:216550
HP:0034345	Mendelian inheritance	958	CD40	OMIM:606843
HP:0034345	Mendelian inheritance	10715	CERS1	OMIM:616230
HP:0034345	Mendelian inheritance	84504	NKX6-2	OMIM:617560
HP:0034345	Mendelian inheritance	26284	ERAL1	OMIM:617565
HP:0034345	Mendelian inheritance	1301	COL11A1	OMIM:228520
HP:0034345	Mendelian inheritance	4174	MCM5	OMIM:617564
HP:0034345	Mendelian inheritance	25930	PTPN23	OMIM:618890
HP:0034345	Mendelian inheritance	84314	TMEM107	OMIM:617563
HP:0034345	Mendelian inheritance	84314	TMEM107	OMIM:617562
HP:0034345	Mendelian inheritance	833	CARS1	OMIM:618891
HP:0034345	Mendelian inheritance	1371	CPOX	OMIM:618892
HP:0034345	Mendelian inheritance	9723	SEMA3E	OMIM:146110
HP:0034345	Mendelian inheritance	558	AXL	OMIM:146110
HP:0034345	Mendelian inheritance	2798	GNRHR	OMIM:146110
HP:0034345	Mendelian inheritance	2796	GNRH1	OMIM:146110
HP:0034345	Mendelian inheritance	2796	GNRH1	OMIM:614841
HP:0034345	Mendelian inheritance	10011	SRA1	OMIM:146110
HP:0034345	Mendelian inheritance	55717	WDR11	OMIM:146110
HP:0034345	Mendelian inheritance	55717	WDR11	OMIM:620237
HP:0034345	Mendelian inheritance	8822	FGF17	OMIM:146110
HP:0034345	Mendelian inheritance	1848	DUSP6	OMIM:146110
HP:0034345	Mendelian inheritance	81848	SPRY4	OMIM:146110
HP:0034345	Mendelian inheritance	285025	CCDC141	OMIM:146110
HP:0034345	Mendelian inheritance	389549	FEZF1	OMIM:146110
HP:0034345	Mendelian inheritance	389549	FEZF1	OMIM:616030
HP:0034345	Mendelian inheritance	10861	SLC26A1	OMIM:167030
HP:0034345	Mendelian inheritance	10861	SLC26A1	OMIM:620372
HP:0034345	Mendelian inheritance	54840	APTX	OMIM:208920
HP:0034345	Mendelian inheritance	79731	NARS2	OMIM:616239
HP:0034345	Mendelian inheritance	79731	NARS2	OMIM:618434
HP:0034345	Mendelian inheritance	1789	DNMT3B	OMIM:242860
HP:0034345	Mendelian inheritance	6820	SULT2B1	OMIM:617571
HP:0034345	Mendelian inheritance	25981	DNAH1	OMIM:617576
HP:0034345	Mendelian inheritance	25981	DNAH1	OMIM:617577
HP:0034345	Mendelian inheritance	8879	SGPL1	OMIM:617575
HP:0034345	Mendelian inheritance	142680	SLC34A3	OMIM:241530
HP:0034345	Mendelian inheritance	23461	ABCA5	OMIM:135400
HP:0034345	Mendelian inheritance	121214	SDR9C7	OMIM:617574
HP:0034345	Mendelian inheritance	100128927	ZBTB42	OMIM:616248
HP:0034345	Mendelian inheritance	1075	CTSC	OMIM:170650
HP:0034345	Mendelian inheritance	1075	CTSC	OMIM:245010
HP:0034345	Mendelian inheritance	1075	CTSC	OMIM:245000
HP:0034345	Mendelian inheritance	23474	ETHE1	OMIM:602473
HP:0034345	Mendelian inheritance	145258	GSC	OMIM:602471
HP:0034345	Mendelian inheritance	6523	SLC5A1	OMIM:606824
HP:0034345	Mendelian inheritance	3931	LCAT	OMIM:245900
HP:0034345	Mendelian inheritance	3931	LCAT	OMIM:136120
HP:0034345	Mendelian inheritance	5971	RELB	OMIM:617585
HP:0034345	Mendelian inheritance	9474	ATG5	OMIM:617584
HP:0034345	Mendelian inheritance	9928	KIF14	OMIM:616258
HP:0034345	Mendelian inheritance	9928	KIF14	OMIM:617914
HP:0034345	Mendelian inheritance	256471	MFSD8	OMIM:610951
HP:0034345	Mendelian inheritance	256471	MFSD8	OMIM:616170
HP:0034345	Mendelian inheritance	2271	FH	OMIM:606812
HP:0034345	Mendelian inheritance	57724	EPG5	OMIM:242840
HP:0034345	Mendelian inheritance	51651	PTRH2	OMIM:616263
HP:0034345	Mendelian inheritance	55779	CFAP44	OMIM:617593
HP:0034345	Mendelian inheritance	80217	CFAP43	OMIM:617592
HP:0034345	Mendelian inheritance	5692	PSMB4	OMIM:617591
HP:0034345	Mendelian inheritance	5698	PSMB9	OMIM:617591
HP:0034345	Mendelian inheritance	9319	TRIP13	OMIM:617598
HP:0034345	Mendelian inheritance	9319	TRIP13	OMIM:619011
HP:0034345	Mendelian inheritance	2954	GSTZ1	OMIM:617596
HP:0034345	Mendelian inheritance	64377	CHST8	OMIM:616265
HP:0034345	Mendelian inheritance	10463	SLC30A9	OMIM:617595
HP:0034345	Mendelian inheritance	388662	SLC6A17	OMIM:616269
HP:0034345	Mendelian inheritance	51227	PIGP	OMIM:617599
HP:0034345	Mendelian inheritance	64421	DCLRE1C	OMIM:602450
HP:0034345	Mendelian inheritance	64421	DCLRE1C	OMIM:603554
HP:0034345	Mendelian inheritance	6528	SLC5A5	OMIM:274400
HP:0034345	Mendelian inheritance	10195	ALG3	OMIM:601110
HP:0034345	Mendelian inheritance	257	ALX3	OMIM:136760
HP:0034345	Mendelian inheritance	258	AMBN	OMIM:616270
HP:0034345	Mendelian inheritance	1749	DLX5	OMIM:220600
HP:0034345	Mendelian inheritance	51645	PPIL1	OMIM:619301
HP:0034345	Mendelian inheritance	51362	CDC40	OMIM:619302
HP:0034345	Mendelian inheritance	81570	CLPB	OMIM:616271
HP:0034345	Mendelian inheritance	5825	ABCD3	OMIM:616278
HP:0034345	Mendelian inheritance	1758	DMP1	OMIM:241520
HP:0034345	Mendelian inheritance	1892	ECHS1	OMIM:616277
HP:0034345	Mendelian inheritance	51117	COQ4	OMIM:616276
HP:0034345	Mendelian inheritance	51013	EXOSC1	OMIM:619304
HP:0034345	Mendelian inheritance	55770	EXOC2	OMIM:619306
HP:0034345	Mendelian inheritance	846	CASR	OMIM:239200
HP:0034345	Mendelian inheritance	83893	SPATA16	OMIM:102530
HP:0034345	Mendelian inheritance	84706	GPT2	OMIM:616281
HP:0034345	Mendelian inheritance	4547	MTTP	OMIM:200100
HP:0034345	Mendelian inheritance	55388	MCM10	OMIM:619313
HP:0034345	Mendelian inheritance	3691	ITGB4	OMIM:226730
HP:0034345	Mendelian inheritance	3691	ITGB4	OMIM:619816
HP:0034345	Mendelian inheritance	5351	PLOD1	OMIM:225400
HP:0034345	Mendelian inheritance	112	ADCY6	OMIM:616287
HP:0034345	Mendelian inheritance	51728	POLR3K	OMIM:619310
HP:0034345	Mendelian inheritance	85476	GFM1	OMIM:609060
HP:0034345	Mendelian inheritance	6650	CAPN15	OMIM:619318
HP:0034345	Mendelian inheritance	3426	CFI	OMIM:610984
HP:0034345	Mendelian inheritance	6548	SLC9A1	OMIM:616291
HP:0034345	Mendelian inheritance	831	CAST	OMIM:616295
HP:0034345	Mendelian inheritance	23102	TBC1D2B	OMIM:619323
HP:0034345	Mendelian inheritance	9871	SEC24D	OMIM:616294
HP:0034345	Mendelian inheritance	51601	LIPT1	OMIM:616299
HP:0034345	Mendelian inheritance	8882	ZPR1	OMIM:619321
HP:0034345	Mendelian inheritance	55215	FANCI	OMIM:609053
HP:0034345	Mendelian inheritance	83990	BRIP1	OMIM:609054
HP:0034345	Mendelian inheritance	1363	CPE	OMIM:619326
HP:0034345	Mendelian inheritance	29968	PSAT1	OMIM:610992
HP:0034345	Mendelian inheritance	29968	PSAT1	OMIM:616038
HP:0034345	Mendelian inheritance	977	CD151	OMIM:609057
HP:0034345	Mendelian inheritance	8869	ST3GAL5	OMIM:609056
HP:0034345	Mendelian inheritance	4166	CHST6	OMIM:217800
HP:0034345	Mendelian inheritance	25929	GEMIN5	OMIM:619333
HP:0034345	Mendelian inheritance	4703	NEB	OMIM:619334
HP:0034345	Mendelian inheritance	4703	NEB	OMIM:256030
HP:0034345	Mendelian inheritance	2530	FUT8	OMIM:618005
HP:0034345	Mendelian inheritance	34	ACADM	OMIM:201450
HP:0034345	Mendelian inheritance	79641	ROGDI	OMIM:226750
HP:0034345	Mendelian inheritance	165	AEBP1	OMIM:618000
HP:0034345	Mendelian inheritance	10082	GPC6	OMIM:258315
HP:0034345	Mendelian inheritance	7965	AIMP2	OMIM:618006
HP:0034345	Mendelian inheritance	1147	CHUK	OMIM:619339
HP:0034345	Mendelian inheritance	1147	CHUK	OMIM:613630
HP:0034345	Mendelian inheritance	10157	AASS	OMIM:238700
HP:0034345	Mendelian inheritance	3913	LAMB2	OMIM:609049
HP:0034345	Mendelian inheritance	3913	LAMB2	OMIM:614199
HP:0034345	Mendelian inheritance	6491	STIL	OMIM:612703
HP:0034345	Mendelian inheritance	6768	ST14	OMIM:602400
HP:0034345	Mendelian inheritance	9509	ADAMTS2	OMIM:225410
HP:0034345	Mendelian inheritance	54845	ESRP1	OMIM:618013
HP:0034345	Mendelian inheritance	26276	VPS33B	OMIM:208085
HP:0034345	Mendelian inheritance	26276	VPS33B	OMIM:620009
HP:0034345	Mendelian inheritance	26276	VPS33B	OMIM:620010
HP:0034345	Mendelian inheritance	2661	GDF9	OMIM:618014
HP:0034345	Mendelian inheritance	26175	LYSET	OMIM:619345
HP:0034345	Mendelian inheritance	5283	PIGH	OMIM:618010
HP:0034345	Mendelian inheritance	84896	ATAD1	OMIM:618011
HP:0034345	Mendelian inheritance	3930	LBR	OMIM:618019
HP:0034345	Mendelian inheritance	79644	SRD5A3	OMIM:612713
HP:0034345	Mendelian inheritance	79644	SRD5A3	OMIM:612379
HP:0034345	Mendelian inheritance	145226	RDH12	OMIM:612712
HP:0034345	Mendelian inheritance	84701	COX4I2	OMIM:612714
HP:0034345	Mendelian inheritance	6697	SPR	OMIM:612716
HP:0034345	Mendelian inheritance	28982	FLVCR1	OMIM:609033
HP:0034345	Mendelian inheritance	2628	GATM	OMIM:612718
HP:0034345	Mendelian inheritance	51241	COX16	OMIM:619355
HP:0034345	Mendelian inheritance	3795	KHK	OMIM:229800
HP:0034345	Mendelian inheritance	37	ACADVL	OMIM:201475
HP:0034345	Mendelian inheritance	5281	PIGF	OMIM:619356
HP:0034345	Mendelian inheritance	4629	MYH11	OMIM:619351
HP:0034345	Mendelian inheritance	340419	RSPO2	OMIM:618021
HP:0034345	Mendelian inheritance	340419	RSPO2	OMIM:618022
HP:0034345	Mendelian inheritance	35	ACADS	OMIM:201470
HP:0034345	Mendelian inheritance	5702	PSMC3	OMIM:619354
HP:0034345	Mendelian inheritance	788	SLC25A20	OMIM:212138
HP:0034345	Mendelian inheritance	5019	OXCT1	OMIM:245050
HP:0034345	Mendelian inheritance	10283	CWC27	OMIM:250410
HP:0034345	Mendelian inheritance	10483	SEC23B	OMIM:224100
HP:0034345	Mendelian inheritance	285590	SH3PXD2B	OMIM:249420
HP:0034345	Mendelian inheritance	25802	LMOD1	OMIM:619362
HP:0034345	Mendelian inheritance	23230	VPS13A	OMIM:200150
HP:0034345	Mendelian inheritance	10398	MYL9	OMIM:619365
HP:0034345	Mendelian inheritance	539	ATP5PO	OMIM:620359
HP:0034345	Mendelian inheritance	3030	HADHA	OMIM:609015
HP:0034345	Mendelian inheritance	3030	HADHA	OMIM:609016
HP:0034345	Mendelian inheritance	2593	GAMT	OMIM:612736
HP:0034345	Mendelian inheritance	4322	MMP13	OMIM:250400
HP:0034345	Mendelian inheritance	1759	DNM1	OMIM:620352
HP:0034345	Mendelian inheritance	6123	RPL3L	OMIM:619371
HP:0034345	Mendelian inheritance	55898	UNC45A	OMIM:619377
HP:0034345	Mendelian inheritance	7390	UROS	OMIM:263700
HP:0034345	Mendelian inheritance	375307	CATIP	OMIM:619379
HP:0034345	Mendelian inheritance	6571	SLC18A2	OMIM:618049
HP:0034345	Mendelian inheritance	3937	LCP2	OMIM:619374
HP:0034345	Mendelian inheritance	210	ALAD	OMIM:612740
HP:0034345	Mendelian inheritance	4948	OCA2	OMIM:203200
HP:0034345	Mendelian inheritance	4157	MC1R	OMIM:203200
HP:0034345	Mendelian inheritance	83715	ESPN	OMIM:609006
HP:0034345	Mendelian inheritance	83715	ESPN	OMIM:618632
HP:0034345	Mendelian inheritance	6522	SLC4A2	OMIM:620366
HP:0034345	Mendelian inheritance	200162	SPAG17	OMIM:619380
HP:0034345	Mendelian inheritance	84277	DNAJC30	OMIM:619382
HP:0034345	Mendelian inheritance	57538	ALPK3	OMIM:618052
HP:0034345	Mendelian inheritance	129285	PPP1R21	OMIM:619383
HP:0034345	Mendelian inheritance	6913	TBX15	OMIM:260660
HP:0034345	Mendelian inheritance	27072	VPS41	OMIM:619389
HP:0034345	Mendelian inheritance	341208	HEPHL1	OMIM:261990
HP:0034345	Mendelian inheritance	9054	NFS1	OMIM:619386
HP:0034345	Mendelian inheritance	146059	CDAN1	OMIM:224120
HP:0034345	Mendelian inheritance	221927	BRAT1	OMIM:618056
HP:0034345	Mendelian inheritance	221927	BRAT1	OMIM:614498
HP:0034345	Mendelian inheritance	6584	SLC22A5	OMIM:212140
HP:0034345	Mendelian inheritance	4702	NDUFA8	OMIM:619272
HP:0034345	Mendelian inheritance	158	ADSL	OMIM:103050
HP:0034345	Mendelian inheritance	81555	YIPF5	OMIM:619278
HP:0034345	Mendelian inheritance	347734	SLC35B2	OMIM:620269
HP:0034345	Mendelian inheritance	345895	RSPH4A	OMIM:612649
HP:0034345	Mendelian inheritance	4758	NEU1	OMIM:256550
HP:0034345	Mendelian inheritance	374654	KIF7	OMIM:200990
HP:0034345	Mendelian inheritance	374654	KIF7	OMIM:607131
HP:0034345	Mendelian inheritance	374654	KIF7	OMIM:614120
HP:0034345	Mendelian inheritance	9442	MED27	OMIM:619286
HP:0034345	Mendelian inheritance	221421	RSPH9	OMIM:612650
HP:0034345	Mendelian inheritance	5176	SERPINF1	OMIM:613982
HP:0034345	Mendelian inheritance	22858	CILK1	OMIM:612651
HP:0034345	Mendelian inheritance	84140	FAM161A	OMIM:606068
HP:0034345	Mendelian inheritance	56246	MRAP	OMIM:607398
HP:0034345	Mendelian inheritance	55135	WRAP53	OMIM:613988
HP:0034345	Mendelian inheritance	7015	TERT	OMIM:613989
HP:0034345	Mendelian inheritance	5476	CTSA	OMIM:256540
HP:0034345	Mendelian inheritance	51324	SPG21	OMIM:248900
HP:0034345	Mendelian inheritance	2533	FYB1	OMIM:273900
HP:0034345	Mendelian inheritance	2642	GCGR	OMIM:619290
HP:0034345	Mendelian inheritance	274	BIN1	OMIM:255200
HP:0034345	Mendelian inheritance	36	ACADSB	OMIM:610006
HP:0034345	Mendelian inheritance	7841	MOGS	OMIM:606056
HP:0034345	Mendelian inheritance	5095	PCCA	OMIM:606054
HP:0034345	Mendelian inheritance	5096	PCCB	OMIM:606054
HP:0034345	Mendelian inheritance	7466	WFS1	OMIM:222300
HP:0034345	Mendelian inheritance	26090	ABHD12	OMIM:612674
HP:0034345	Mendelian inheritance	84984	CEP19	OMIM:615703
HP:0034345	Mendelian inheritance	4338	MOCS2	OMIM:252160
HP:0034345	Mendelian inheritance	2752	GLUL	OMIM:610015
HP:0034345	Mendelian inheritance	1906	EDN1	OMIM:615706
HP:0034345	Mendelian inheritance	2214	FCGR3A	OMIM:615707
HP:0034345	Mendelian inheritance	79443	FYCO1	OMIM:610019
HP:0034345	Mendelian inheritance	9711	RUBCN	OMIM:615705
HP:0034345	Mendelian inheritance	26227	PHGDH	OMIM:256520
HP:0034345	Mendelian inheritance	26227	PHGDH	OMIM:601815
HP:0034345	Mendelian inheritance	6862	TBXT	OMIM:615709
HP:0034345	Mendelian inheritance	2677	GGCX	OMIM:277450
HP:0034345	Mendelian inheritance	2677	GGCX	OMIM:610842
HP:0034345	Mendelian inheritance	222546	RFX6	OMIM:615710
HP:0034345	Mendelian inheritance	9255	AIMP1	OMIM:260600
HP:0034345	Mendelian inheritance	5149	PDE6H	OMIM:610024
HP:0034345	Mendelian inheritance	375748	ERCC6L2	OMIM:615715
HP:0034345	Mendelian inheritance	93210	PGAP3	OMIM:615716
HP:0034345	Mendelian inheritance	1188	CLCNKB	OMIM:607364
HP:0034345	Mendelian inheritance	728294	D2HGDH	OMIM:600721
HP:0034345	Mendelian inheritance	9095	TBX19	OMIM:201400
HP:0034345	Mendelian inheritance	2038	EPB42	OMIM:612690
HP:0034345	Mendelian inheritance	974	CD79B	OMIM:612692
HP:0034345	Mendelian inheritance	26281	FGF20	OMIM:615721
HP:0034345	Mendelian inheritance	164045	HFM1	OMIM:615724
HP:0034345	Mendelian inheritance	57709	SLC7A14	OMIM:615725
HP:0034345	Mendelian inheritance	1811	SLC26A3	OMIM:214700
HP:0034345	Mendelian inheritance	23396	PIP5K1C	OMIM:611369
HP:0034345	Mendelian inheritance	7274	TTPA	OMIM:277460
HP:0034345	Mendelian inheritance	471	ATIC	OMIM:608688
HP:0034345	Mendelian inheritance	81031	SLC2A10	OMIM:208050
HP:0034345	Mendelian inheritance	10324	KLHL41	OMIM:615731
HP:0034345	Mendelian inheritance	26047	CNTNAP2	OMIM:610042
HP:0034345	Mendelian inheritance	5885	RAD21	OMIM:611376
HP:0034345	Mendelian inheritance	11023	VAX1	OMIM:614402
HP:0034345	Mendelian inheritance	57704	GBA2	OMIM:614409
HP:0034345	Mendelian inheritance	710	SERPING1	OMIM:106100
HP:0034345	Mendelian inheritance	4313	MMP2	OMIM:259600
HP:0034345	Mendelian inheritance	285440	CYP4V2	OMIM:210370
HP:0034345	Mendelian inheritance	3918	LAMC2	OMIM:226700
HP:0034345	Mendelian inheritance	3918	LAMC2	OMIM:619785
HP:0034345	Mendelian inheritance	3918	LAMC2	OMIM:619786
HP:0034345	Mendelian inheritance	25861	WHRN	OMIM:611383
HP:0034345	Mendelian inheritance	25861	WHRN	OMIM:607084
HP:0034345	Mendelian inheritance	56603	CYP26B1	OMIM:614416
HP:0034345	Mendelian inheritance	7450	VWF	OMIM:277480
HP:0034345	Mendelian inheritance	7450	VWF	OMIM:613554
HP:0034345	Mendelian inheritance	4878	NPPA	OMIM:615745
HP:0034345	Mendelian inheritance	23064	SETX	OMIM:606002
HP:0034345	Mendelian inheritance	57094	CPA6	OMIM:614417
HP:0034345	Mendelian inheritance	57094	CPA6	OMIM:614418
HP:0034345	Mendelian inheritance	6888	TALDO1	OMIM:606003
HP:0034345	Mendelian inheritance	6309	SC5D	OMIM:607330
HP:0034345	Mendelian inheritance	54808	DYM	OMIM:607326
HP:0034345	Mendelian inheritance	54808	DYM	OMIM:223800
HP:0034345	Mendelian inheritance	2982	GUCY1A1	OMIM:615750
HP:0034345	Mendelian inheritance	631	BFSP1	OMIM:611391
HP:0034345	Mendelian inheritance	1356	CP	OMIM:604290
HP:0034345	Mendelian inheritance	1643	DDB2	OMIM:278740
HP:0034345	Mendelian inheritance	1776	DNASE1L3	OMIM:614420
HP:0034345	Mendelian inheritance	763	CA5A	OMIM:615751
HP:0034345	Mendelian inheritance	3932	LCK	OMIM:615758
HP:0034345	Mendelian inheritance	65062	TMEM237	OMIM:614424
HP:0034345	Mendelian inheritance	4803	NGF	OMIM:608654
HP:0034345	Mendelian inheritance	8556	CDC14A	OMIM:608653
HP:0034345	Mendelian inheritance	27249	MMADHC	OMIM:277410
HP:0034345	Mendelian inheritance	4173	MCM4	OMIM:609981
HP:0034345	Mendelian inheritance	10999	SLC27A4	OMIM:608649
HP:0034345	Mendelian inheritance	54768	HYDIN	OMIM:608647
HP:0034345	Mendelian inheritance	55187	VPS13D	OMIM:607317
HP:0034345	Mendelian inheritance	5859	QARS1	OMIM:615760
HP:0034345	Mendelian inheritance	164656	TMPRSS6	OMIM:206200
HP:0034345	Mendelian inheritance	6813	STXBP2	OMIM:613101
HP:0034345	Mendelian inheritance	5429	POLH	OMIM:278750
HP:0034345	Mendelian inheritance	1825	DSC3	OMIM:613102
HP:0034345	Mendelian inheritance	30008	EFEMP2	OMIM:614437
HP:0034345	Mendelian inheritance	10273	STUB1	OMIM:615768
HP:0034345	Mendelian inheritance	59067	IL21	OMIM:615767
HP:0034345	Mendelian inheritance	90678	LRSAM1	OMIM:614436
HP:0034345	Mendelian inheritance	1644	DDC	OMIM:608643
HP:0034345	Mendelian inheritance	6443	SGCB	OMIM:604286
HP:0034345	Mendelian inheritance	64581	CLEC7A	OMIM:613108
HP:0034345	Mendelian inheritance	1767	DNAH5	OMIM:608644
HP:0034345	Mendelian inheritance	3033	HADH	OMIM:609975
HP:0034345	Mendelian inheritance	3033	HADH	OMIM:231530
HP:0034345	Mendelian inheritance	64221	ROBO3	OMIM:607313
HP:0034345	Mendelian inheritance	8671	SLC4A4	OMIM:604278
HP:0034345	Mendelian inheritance	6578	SLCO2A1	OMIM:614441
HP:0034345	Mendelian inheritance	9631	NUP155	OMIM:615770
HP:0034345	Mendelian inheritance	79572	ATP13A3	OMIM:265400
HP:0034345	Mendelian inheritance	22861	NLRP1	OMIM:618803
HP:0034345	Mendelian inheritance	22861	NLRP1	OMIM:617388
HP:0034345	Mendelian inheritance	23511	NUP188	OMIM:618804
HP:0034345	Mendelian inheritance	26007	TKFC	OMIM:618805
HP:0034345	Mendelian inheritance	22917	ZP1	OMIM:615774
HP:0034345	Mendelian inheritance	54974	THG1L	OMIM:618800
HP:0034345	Mendelian inheritance	462	SERPINC1	OMIM:613118
HP:0034345	Mendelian inheritance	54970	TTC12	OMIM:618801
HP:0034345	Mendelian inheritance	20	ABCA2	OMIM:618808
HP:0034345	Mendelian inheritance	91647	ATPAF2	OMIM:604273
HP:0034345	Mendelian inheritance	54806	AHI1	OMIM:608629
HP:0034345	Mendelian inheritance	9420	CYP7B1	OMIM:270800
HP:0034345	Mendelian inheritance	9420	CYP7B1	OMIM:613812
HP:0034345	Mendelian inheritance	55163	PNPO	OMIM:610090
HP:0034345	Mendelian inheritance	338917	VSX2	OMIM:610092
HP:0034345	Mendelian inheritance	338917	VSX2	OMIM:610093
HP:0034345	Mendelian inheritance	55857	KIZ	OMIM:615780
HP:0034345	Mendelian inheritance	7421	VDR	OMIM:277440
HP:0034345	Mendelian inheritance	55210	ATAD3A	OMIM:618810
HP:0034345	Mendelian inheritance	55210	ATAD3A	OMIM:617183
HP:0034345	Mendelian inheritance	89874	SLC25A21	OMIM:618811
HP:0034345	Mendelian inheritance	6785	ELOVL4	OMIM:614457
HP:0034345	Mendelian inheritance	9419	CRIPT	OMIM:615789
HP:0034345	Mendelian inheritance	27010	TPK1	OMIM:614458
HP:0034345	Mendelian inheritance	10269	ZMPSTE24	OMIM:608612
HP:0034345	Mendelian inheritance	10269	ZMPSTE24	OMIM:275210
HP:0034345	Mendelian inheritance	11019	LIAS	OMIM:614462
HP:0034345	Mendelian inheritance	58494	JAM2	OMIM:618824
HP:0034345	Mendelian inheritance	94137	RP1L1	OMIM:618826
HP:0034345	Mendelian inheritance	4337	MOCS1	OMIM:252150
HP:0034345	Mendelian inheritance	95681	CEP41	OMIM:614464
HP:0034345	Mendelian inheritance	6531	SLC6A3	OMIM:613135
HP:0034345	Mendelian inheritance	51524	TMEM138	OMIM:614465
HP:0034345	Mendelian inheritance	91461	PKDCC	OMIM:618821
HP:0034345	Mendelian inheritance	8087	FXR1	OMIM:618822
HP:0034345	Mendelian inheritance	8087	FXR1	OMIM:618823
HP:0034345	Mendelian inheritance	22934	RPIA	OMIM:608611
HP:0034345	Mendelian inheritance	7036	TFR2	OMIM:604250
HP:0034345	Mendelian inheritance	7507	XPA	OMIM:278700
HP:0034345	Mendelian inheritance	128178	EDARADD	OMIM:224900
HP:0034345	Mendelian inheritance	128178	EDARADD	OMIM:614941
HP:0034345	Mendelian inheritance	10913	EDAR	OMIM:224900
HP:0034345	Mendelian inheritance	55278	QRSL1	OMIM:618835
HP:0034345	Mendelian inheritance	11005	SPINK5	OMIM:256500
HP:0034345	Mendelian inheritance	5188	GATB	OMIM:618838
HP:0034345	Mendelian inheritance	55704	CCDC88A	OMIM:617507
HP:0034345	Mendelian inheritance	3587	IL10RA	OMIM:613148
HP:0034345	Mendelian inheritance	283459	GATC	OMIM:618839
HP:0034345	Mendelian inheritance	3094	HINT1	OMIM:137200
HP:0034345	Mendelian inheritance	95	ACY1	OMIM:609924
HP:0034345	Mendelian inheritance	2819	GPD1	OMIM:614480
HP:0034345	Mendelian inheritance	29954	POMT2	OMIM:613150
HP:0034345	Mendelian inheritance	29954	POMT2	OMIM:613156
HP:0034345	Mendelian inheritance	29954	POMT2	OMIM:613158
HP:0034345	Mendelian inheritance	29954	POMT2	OMIM:236670
HP:0034345	Mendelian inheritance	7018	TF	OMIM:209300
HP:0034345	Mendelian inheritance	9197	SLC33A1	OMIM:614482
HP:0034345	Mendelian inheritance	79147	FKRP	OMIM:613153
HP:0034345	Mendelian inheritance	79147	FKRP	OMIM:606612
HP:0034345	Mendelian inheritance	79147	FKRP	OMIM:607155
HP:0034345	Mendelian inheritance	79147	FKRP	OMIM:236670
HP:0034345	Mendelian inheritance	27040	LAT	OMIM:617514
HP:0034345	Mendelian inheritance	57591	MRTFA	OMIM:618847
HP:0034345	Mendelian inheritance	64208	POPDC3	OMIM:618848
HP:0034345	Mendelian inheritance	10939	AFG3L2	OMIM:614487
HP:0034345	Mendelian inheritance	63929	XPNPEP3	OMIM:613159
HP:0034345	Mendelian inheritance	55191	NADSYN1	OMIM:618845
HP:0034345	Mendelian inheritance	63916	ELMO2	OMIM:606893
HP:0034345	Mendelian inheritance	55812	SPATA7	OMIM:604232
HP:0034345	Mendelian inheritance	57731	SPTBN4	OMIM:617519
HP:0034345	Mendelian inheritance	7508	XPC	OMIM:278720
HP:0034345	Mendelian inheritance	23155	CLCC1	OMIM:609913
HP:0034345	Mendelian inheritance	587	BCAT2	OMIM:618850
HP:0034345	Mendelian inheritance	29928	TIMM22	OMIM:618851
HP:0034345	Mendelian inheritance	51733	UPB1	OMIM:613161
HP:0034345	Mendelian inheritance	26249	KLHL3	OMIM:614495
HP:0034345	Mendelian inheritance	18	ABAT	OMIM:613163
HP:0034345	Mendelian inheritance	22978	NT5C2	OMIM:613162
HP:0034345	Mendelian inheritance	7456	WIPF1	OMIM:614493
HP:0034345	Mendelian inheritance	2815	GP9	OMIM:231200
HP:0034345	Mendelian inheritance	2811	GP1BA	OMIM:231200
HP:0034345	Mendelian inheritance	2811	GP1BA	OMIM:258660
HP:0034345	Mendelian inheritance	2812	GP1BB	OMIM:231200
HP:0034345	Mendelian inheritance	8738	CRADD	OMIM:614499
HP:0034345	Mendelian inheritance	3630	INS	OMIM:618858
HP:0034345	Mendelian inheritance	9181	ARHGEF2	OMIM:617523
HP:0034345	Mendelian inheritance	7957	EPM2A	OMIM:254780
HP:0034345	Mendelian inheritance	378884	NHLRC1	OMIM:254780
HP:0034345	Mendelian inheritance	25871	NEPRO	OMIM:618853
HP:0034345	Mendelian inheritance	9373	PLAA	OMIM:617527
HP:0034345	Mendelian inheritance	22868	FASTKD2	OMIM:618855
HP:0034345	Mendelian inheritance	2531	KDSR	OMIM:617526
HP:0034345	Mendelian inheritance	2068	ERCC2	OMIM:278730
HP:0034345	Mendelian inheritance	2068	ERCC2	OMIM:610756
HP:0034345	Mendelian inheritance	2068	ERCC2	OMIM:601675
HP:0034345	Mendelian inheritance	25974	MMACHC	OMIM:277400
HP:0034345	Mendelian inheritance	5052	PRDX1	OMIM:277400
HP:0034345	Mendelian inheritance	1718	DHCR24	OMIM:602398
HP:0034345	Mendelian inheritance	2549	GAB1	OMIM:605428
HP:0034345	Mendelian inheritance	65217	PCDH15	OMIM:601067
HP:0034345	Mendelian inheritance	65217	PCDH15	OMIM:609533
HP:0034345	Mendelian inheritance	65217	PCDH15	OMIM:602083
HP:0034345	Mendelian inheritance	51399	TRAPPC4	OMIM:618741
HP:0034345	Mendelian inheritance	720	C4A	OMIM:614380
HP:0034345	Mendelian inheritance	2304	FOXE1	OMIM:241850
HP:0034345	Mendelian inheritance	10059	DNM1L	OMIM:614388
HP:0034345	Mendelian inheritance	7360	UGP2	OMIM:618744
HP:0034345	Mendelian inheritance	83894	TTC29	OMIM:618745
HP:0034345	Mendelian inheritance	148738	HJV	OMIM:602390
HP:0034345	Mendelian inheritance	6331	SCN5A	OMIM:272120
HP:0034345	Mendelian inheritance	6331	SCN5A	OMIM:608567
HP:0034345	Mendelian inheritance	5932	RBBP8	OMIM:606744
HP:0034345	Mendelian inheritance	5932	RBBP8	OMIM:251255
HP:0034345	Mendelian inheritance	79925	SPEF2	OMIM:618751
HP:0034345	Mendelian inheritance	5651	TMPRSS15	OMIM:226200
HP:0034345	Mendelian inheritance	2348	FOLR1	OMIM:613068
HP:0034345	Mendelian inheritance	2137	EXTL3	OMIM:617425
HP:0034345	Mendelian inheritance	5184	PEPD	OMIM:170100
HP:0034345	Mendelian inheritance	84466	MEGF10	OMIM:614399
HP:0034345	Mendelian inheritance	79158	GNPTAB	OMIM:252500
HP:0034345	Mendelian inheritance	79158	GNPTAB	OMIM:252600
HP:0034345	Mendelian inheritance	7054	TH	OMIM:605407
HP:0034345	Mendelian inheritance	57589	RIC1	OMIM:618761
HP:0034345	Mendelian inheritance	23495	TNFRSF13B	OMIM:240500
HP:0034345	Mendelian inheritance	4318	MMP9	OMIM:613073
HP:0034345	Mendelian inheritance	317662	FAM149B1	OMIM:618763
HP:0034345	Mendelian inheritance	1513	CTSK	OMIM:265800
HP:0034345	Mendelian inheritance	54453	RIN2	OMIM:613075
HP:0034345	Mendelian inheritance	23370	ARHGEF18	OMIM:617433
HP:0034345	Mendelian inheritance	6884	TAF13	OMIM:617432
HP:0034345	Mendelian inheritance	2671	GFER	OMIM:613076
HP:0034345	Mendelian inheritance	125336	LOXHD1	OMIM:613079
HP:0034345	Mendelian inheritance	10111	RAD50	OMIM:613078
HP:0034345	Mendelian inheritance	3064	HTT	OMIM:617435
HP:0034345	Mendelian inheritance	55681	SCYL2	OMIM:618766
HP:0034345	Mendelian inheritance	51109	RDH11	OMIM:616108
HP:0034345	Mendelian inheritance	85465	SELENOI	OMIM:618768
HP:0034345	Mendelian inheritance	1528	CYB5A	OMIM:250790
HP:0034345	Mendelian inheritance	8659	ALDH4A1	OMIM:239510
HP:0034345	Mendelian inheritance	84733	CBX2	OMIM:613080
HP:0034345	Mendelian inheritance	10203	CALCRL	OMIM:618773
HP:0034345	Mendelian inheritance	7386	UQCRFS1	OMIM:618775
HP:0034345	Mendelian inheritance	23312	DMXL2	OMIM:616113
HP:0034345	Mendelian inheritance	23312	DMXL2	OMIM:618663
HP:0034345	Mendelian inheritance	2313	FLI1	OMIM:617443
HP:0034345	Mendelian inheritance	4439	MSH5	OMIM:617442
HP:0034345	Mendelian inheritance	4439	MSH5	OMIM:619937
HP:0034345	Mendelian inheritance	5833	PCYT2	OMIM:618770
HP:0034345	Mendelian inheritance	790955	UQCC3	OMIM:616111
HP:0034345	Mendelian inheritance	80739	MPIG6B	OMIM:617441
HP:0034345	Mendelian inheritance	3340	NDST1	OMIM:616116
HP:0034345	Mendelian inheritance	284184	NDUFAF8	OMIM:618776
HP:0034345	Mendelian inheritance	11081	KERA	OMIM:217300
HP:0034345	Mendelian inheritance	79659	DYNC2H1	OMIM:613091
HP:0034345	Mendelian inheritance	11285	B4GALT7	OMIM:130070
HP:0034345	Mendelian inheritance	5146	PDE6C	OMIM:613093
HP:0034345	Mendelian inheritance	5314	PKHD1	OMIM:263200
HP:0034345	Mendelian inheritance	152110	NEK10	OMIM:618781
HP:0034345	Mendelian inheritance	51633	OTUD6B	OMIM:617452
HP:0034345	Mendelian inheritance	55280	CWF19L1	OMIM:616127
HP:0034345	Mendelian inheritance	9636	ISG15	OMIM:616126
HP:0034345	Mendelian inheritance	144811	LACC1	OMIM:618795
HP:0034345	Mendelian inheritance	253959	RALGAPA1	OMIM:618797
HP:0034345	Mendelian inheritance	7358	UGDH	OMIM:618792
HP:0034345	Mendelian inheritance	163175	LGI4	OMIM:617468
HP:0034345	Mendelian inheritance	200424	TET3	OMIM:618798
HP:0034345	Mendelian inheritance	79728	PALB2	OMIM:610832
HP:0034345	Mendelian inheritance	487	ATP2A1	OMIM:601003
HP:0034345	Mendelian inheritance	3861	KRT14	OMIM:601001
HP:0034345	Mendelian inheritance	5917	RARS1	OMIM:616140
HP:0034345	Mendelian inheritance	23483	TGDS	OMIM:616145
HP:0034345	Mendelian inheritance	2395	FXN	OMIM:229300
HP:0034345	Mendelian inheritance	6603	SMARCD2	OMIM:617475
HP:0034345	Mendelian inheritance	54916	TMEM260	OMIM:617478
HP:0034345	Mendelian inheritance	79648	MCPH1	OMIM:251200
HP:0034345	Mendelian inheritance	58497	PRUNE1	OMIM:617481
HP:0034345	Mendelian inheritance	84188	FAR1	OMIM:616154
HP:0034345	Mendelian inheritance	3000	GUCY2D	OMIM:204000
HP:0034345	Mendelian inheritance	3000	GUCY2D	OMIM:601777
HP:0034345	Mendelian inheritance	3000	GUCY2D	OMIM:618555
HP:0034345	Mendelian inheritance	51314	NME8	OMIM:610852
HP:0034345	Mendelian inheritance	4921	DDR2	OMIM:271665
HP:0034345	Mendelian inheritance	56203	LMOD3	OMIM:616165
HP:0034345	Mendelian inheritance	3081	HGD	OMIM:203500
HP:0034345	Mendelian inheritance	7038	TG	OMIM:274700
HP:0034345	Mendelian inheritance	10733	PLK4	OMIM:616171
HP:0034345	Mendelian inheritance	55243	KIRREL1	OMIM:619201
HP:0034345	Mendelian inheritance	317761	C14orf39	OMIM:619202
HP:0034345	Mendelian inheritance	317761	C14orf39	OMIM:619203
HP:0034345	Mendelian inheritance	11277	TREX1	OMIM:225750
HP:0034345	Mendelian inheritance	5568	PRKACG	OMIM:616176
HP:0034345	Mendelian inheritance	64065	PERP	OMIM:619209
HP:0034345	Mendelian inheritance	4010	LMX1B	OMIM:256020
HP:0034345	Mendelian inheritance	7007	TECTA	OMIM:603629
HP:0034345	Mendelian inheritance	254394	MCM9	OMIM:616185
HP:0034345	Mendelian inheritance	57007	ACKR3	OMIM:619215
HP:0034345	Mendelian inheritance	7275	TUB	OMIM:616188
HP:0034345	Mendelian inheritance	64856	VWA1	OMIM:619216
HP:0034345	Mendelian inheritance	439	GET3	OMIM:620203
HP:0034345	Mendelian inheritance	2019	EN1	OMIM:619218
HP:0034345	Mendelian inheritance	1675	CFD	OMIM:613912
HP:0034345	Mendelian inheritance	819	CAMLG	OMIM:620201
HP:0034345	Mendelian inheritance	51608	GET4	OMIM:620200
HP:0034345	Mendelian inheritance	3735	KARS1	OMIM:613916
HP:0034345	Mendelian inheritance	3735	KARS1	OMIM:619196
HP:0034345	Mendelian inheritance	3735	KARS1	OMIM:619147
HP:0034345	Mendelian inheritance	3735	KARS1	OMIM:613641
HP:0034345	Mendelian inheritance	56776	FMN2	OMIM:616193
HP:0034345	Mendelian inheritance	5611	DNAJC3	OMIM:616192
HP:0034345	Mendelian inheritance	6390	SDHB	OMIM:619224
HP:0034345	Mendelian inheritance	1830	DSG3	OMIM:619226
HP:0034345	Mendelian inheritance	7174	TPP2	OMIM:619220
HP:0034345	Mendelian inheritance	58472	SQOR	OMIM:619221
HP:0034345	Mendelian inheritance	2992	GYG1	OMIM:616199
HP:0034345	Mendelian inheritance	2992	GYG1	OMIM:613507
HP:0034345	Mendelian inheritance	84705	GTPBP3	OMIM:616198
HP:0034345	Mendelian inheritance	9049	AIP	OMIM:219090
HP:0034345	Mendelian inheritance	9101	USP8	OMIM:219090
HP:0034345	Mendelian inheritance	6297	SALL2	OMIM:216820
HP:0034345	Mendelian inheritance	220296	HEPACAM	OMIM:613925
HP:0034345	Mendelian inheritance	220296	HEPACAM	OMIM:604004
HP:0034345	Mendelian inheritance	8883	NAE1	OMIM:620210
HP:0034345	Mendelian inheritance	55186	SLC25A36	OMIM:620211
HP:0034345	Mendelian inheritance	9563	H6PD	OMIM:604931
HP:0034345	Mendelian inheritance	84265	POLR3GL	OMIM:619234
HP:0034345	Mendelian inheritance	4158	MC2R	OMIM:202200
HP:0034345	Mendelian inheritance	2155	F7	OMIM:227500
HP:0034345	Mendelian inheritance	570	BAAT	OMIM:619232
HP:0034345	Mendelian inheritance	4070	TACSTD2	OMIM:204870
HP:0034345	Mendelian inheritance	920	CD4	OMIM:619238
HP:0034345	Mendelian inheritance	435	ASL	OMIM:207900
HP:0034345	Mendelian inheritance	6608	SMO	OMIM:241800
HP:0034345	Mendelian inheritance	31	ACACA	OMIM:613933
HP:0034345	Mendelian inheritance	3248	HPGD	OMIM:259100
HP:0034345	Mendelian inheritance	3248	HPGD	OMIM:119900
HP:0034345	Mendelian inheritance	286	ANK1	OMIM:182900
HP:0034345	Mendelian inheritance	1041	CDSN	OMIM:270300
HP:0034345	Mendelian inheritance	493856	CISD2	OMIM:604928
HP:0034345	Mendelian inheritance	11077	HSF2BP	OMIM:619245
HP:0034345	Mendelian inheritance	55640	FLVCR2	OMIM:225790
HP:0034345	Mendelian inheritance	91875	TTC5	OMIM:619244
HP:0034345	Mendelian inheritance	100127206	MINAR2	OMIM:620238
HP:0034345	Mendelian inheritance	643418	LIPN	OMIM:613943
HP:0034345	Mendelian inheritance	54800	KLHL24	OMIM:620236
HP:0034345	Mendelian inheritance	5625	PRODH	OMIM:239500
HP:0034345	Mendelian inheritance	10551	AGR2	OMIM:620233
HP:0034345	Mendelian inheritance	60386	SLC25A19	OMIM:607196
HP:0034345	Mendelian inheritance	60386	SLC25A19	OMIM:613710
HP:0034345	Mendelian inheritance	10436	EMG1	OMIM:211180
HP:0034345	Mendelian inheritance	1497	CTNS	OMIM:219900
HP:0034345	Mendelian inheritance	1497	CTNS	OMIM:219800
HP:0034345	Mendelian inheritance	1497	CTNS	OMIM:219750
HP:0034345	Mendelian inheritance	6554	SLC10A1	OMIM:619256
HP:0034345	Mendelian inheritance	284382	ACTL9	OMIM:619258
HP:0034345	Mendelian inheritance	1315	COPB1	OMIM:619255
HP:0034345	Mendelian inheritance	84464	SLX4	OMIM:613951
HP:0034345	Mendelian inheritance	23765	IL17RA	OMIM:613953
HP:0034345	Mendelian inheritance	779	CACNA1S	OMIM:620246
HP:0034345	Mendelian inheritance	283417	DPY19L2	OMIM:613958
HP:0034345	Mendelian inheritance	55901	THSD1	OMIM:620244
HP:0034345	Mendelian inheritance	10079	ATP9A	OMIM:620242
HP:0034345	Mendelian inheritance	2801	GOLGA2	OMIM:620240
HP:0034345	Mendelian inheritance	64802	NMNAT1	OMIM:619260
HP:0034345	Mendelian inheritance	64802	NMNAT1	OMIM:608553
HP:0034345	Mendelian inheritance	3690	ITGB3	OMIM:619267
HP:0034345	Mendelian inheritance	1893	ECM1	OMIM:247100
HP:0034345	Mendelian inheritance	55181	SMG8	OMIM:619268
HP:0034345	Mendelian inheritance	8516	ITGA8	OMIM:191830
HP:0034345	Mendelian inheritance	375056	MIA3	OMIM:619269
HP:0034345	Mendelian inheritance	23500	DAAM2	OMIM:619263
HP:0034345	Mendelian inheritance	284361	EMC10	OMIM:619264
HP:0034345	Mendelian inheritance	4689	NCF4	OMIM:613960
HP:0034345	Mendelian inheritance	203	AK1	OMIM:612631
HP:0034345	Mendelian inheritance	10749	KIF1C	OMIM:611302
HP:0034345	Mendelian inheritance	5696	PSMB8	OMIM:256040
HP:0034345	Mendelian inheritance	5138	PDE2A	OMIM:619150
HP:0034345	Mendelian inheritance	6770	STAR	OMIM:201710
HP:0034345	Mendelian inheritance	9722	NOS1AP	OMIM:619155
HP:0034345	Mendelian inheritance	1593	CYP27A1	OMIM:213700
HP:0034345	Mendelian inheritance	781	CACNA2D1	OMIM:620149
HP:0034345	Mendelian inheritance	857	CAV1	OMIM:612526
HP:0034345	Mendelian inheritance	2780	GNAT2	OMIM:613856
HP:0034345	Mendelian inheritance	80144	FRAS1	OMIM:219000
HP:0034345	Mendelian inheritance	9313	MMP20	OMIM:612529
HP:0034345	Mendelian inheritance	23149	FCHO1	OMIM:619164
HP:0034345	Mendelian inheritance	1638	DCT	OMIM:619165
HP:0034345	Mendelian inheritance	644096	SDHAF1	OMIM:619166
HP:0034345	Mendelian inheritance	6392	SDHD	OMIM:619167
HP:0034345	Mendelian inheritance	8547	FCN3	OMIM:613860
HP:0034345	Mendelian inheritance	10461	MERTK	OMIM:613862
HP:0034345	Mendelian inheritance	79947	DHDDS	OMIM:613861
HP:0034345	Mendelian inheritance	841	CASP8	OMIM:607271
HP:0034345	Mendelian inheritance	375611	SLC26A5	OMIM:613865
HP:0034345	Mendelian inheritance	1410	CRYAB	OMIM:613869
HP:0034345	Mendelian inheritance	1410	CRYAB	OMIM:613763
HP:0034345	Mendelian inheritance	26153	KIF26A	OMIM:620156
HP:0034345	Mendelian inheritance	9382	COG1	OMIM:611209
HP:0034345	Mendelian inheritance	338657	CENATAC	OMIM:620153
HP:0034345	Mendelian inheritance	678	ZFP36L2	OMIM:620154
HP:0034345	Mendelian inheritance	63915	BLOC1S5	OMIM:619172
HP:0034345	Mendelian inheritance	645104	CLRN2	OMIM:619174
HP:0034345	Mendelian inheritance	4718	NDUFC2	OMIM:619170
HP:0034345	Mendelian inheritance	5699	PSMB10	OMIM:619175
HP:0034345	Mendelian inheritance	283677	REC114	OMIM:619176
HP:0034345	Mendelian inheritance	89876	CFAP91	OMIM:619177
HP:0034345	Mendelian inheritance	1272	CNTN1	OMIM:612540
HP:0034345	Mendelian inheritance	92579	G6PC3	OMIM:612541
HP:0034345	Mendelian inheritance	1801	DPH1	OMIM:616901
HP:0034345	Mendelian inheritance	93627	TBCK	OMIM:616900
HP:0034345	Mendelian inheritance	9570	GOSR2	OMIM:620166
HP:0034345	Mendelian inheritance	9570	GOSR2	OMIM:614018
HP:0034345	Mendelian inheritance	54675	CRLS1	OMIM:620167
HP:0034345	Mendelian inheritance	823	CAPN1	OMIM:616907
HP:0034345	Mendelian inheritance	10555	AGPAT2	OMIM:608594
HP:0034345	Mendelian inheritance	5313	PKLR	OMIM:266200
HP:0034345	Mendelian inheritance	56984	PSMG2	OMIM:619183
HP:0034345	Mendelian inheritance	222663	SCUBE3	OMIM:619184
HP:0034345	Mendelian inheritance	80726	IQCN	OMIM:620170
HP:0034345	Mendelian inheritance	23116	TOGARAM1	OMIM:619185
HP:0034345	Mendelian inheritance	51371	POMP	OMIM:601952
HP:0034345	Mendelian inheritance	6687	SPG7	OMIM:607259
HP:0034345	Mendelian inheritance	8557	TCAP	OMIM:601954
HP:0034345	Mendelian inheritance	6999	TDO2	OMIM:600627
HP:0034345	Mendelian inheritance	55148	UBR7	OMIM:619189
HP:0034345	Mendelian inheritance	55775	TDP1	OMIM:607250
HP:0034345	Mendelian inheritance	2492	FSHR	OMIM:233300
HP:0034345	Mendelian inheritance	23545	ATP6V0A2	OMIM:278250
HP:0034345	Mendelian inheritance	23545	ATP6V0A2	OMIM:219200
HP:0034345	Mendelian inheritance	79867	TCTN2	OMIM:613885
HP:0034345	Mendelian inheritance	79867	TCTN2	OMIM:616654
HP:0034345	Mendelian inheritance	3070	HELLS	OMIM:616911
HP:0034345	Mendelian inheritance	11160	ERLIN2	OMIM:611225
HP:0034345	Mendelian inheritance	83879	CDCA7	OMIM:616910
HP:0034345	Mendelian inheritance	23424	TDRD7	OMIM:613887
HP:0034345	Mendelian inheritance	54872	PIGG	OMIM:616917
HP:0034345	Mendelian inheritance	79669	C3orf52	OMIM:620177
HP:0034345	Mendelian inheritance	699	BUB1	OMIM:620183
HP:0034345	Mendelian inheritance	9653	HS2ST1	OMIM:619194
HP:0034345	Mendelian inheritance	84138	SLC7A6OS	OMIM:619191
HP:0034345	Mendelian inheritance	5447	POR	OMIM:201750
HP:0034345	Mendelian inheritance	5447	POR	OMIM:613571
HP:0034345	Mendelian inheritance	56006	SMG9	OMIM:616920
HP:0034345	Mendelian inheritance	56006	SMG9	OMIM:619995
HP:0034345	Mendelian inheritance	10846	PDE10A	OMIM:616921
HP:0034345	Mendelian inheritance	3588	IL10RB	OMIM:612567
HP:0034345	Mendelian inheritance	5649	RELN	OMIM:257320
HP:0034345	Mendelian inheritance	55719	SLF2	OMIM:620184
HP:0034345	Mendelian inheritance	23137	SMC5	OMIM:620185
HP:0034345	Mendelian inheritance	10907	TXNL4A	OMIM:608572
HP:0034345	Mendelian inheritance	55343	SLC35C1	OMIM:266265
HP:0034345	Mendelian inheritance	79759	ZNF668	OMIM:620194
HP:0034345	Mendelian inheritance	283209	PGM2L1	OMIM:620191
HP:0034345	Mendelian inheritance	1737	DLAT	OMIM:245348
HP:0034345	Mendelian inheritance	8050	PDHX	OMIM:245349
HP:0034345	Mendelian inheritance	6473	SHOX	OMIM:249700
HP:0034345	Mendelian inheritance	3420	IDH3B	OMIM:612572
HP:0034345	Mendelian inheritance	2512	FTL	OMIM:615604
HP:0034345	Mendelian inheritance	54112	GPR88	OMIM:616939
HP:0034345	Mendelian inheritance	917	CD3G	OMIM:615607
HP:0034345	Mendelian inheritance	84946	LTV1	OMIM:620199
HP:0034345	Mendelian inheritance	2103	ESRRB	OMIM:608565
HP:0034345	Mendelian inheritance	85452	CFAP74	OMIM:620197
HP:0034345	Mendelian inheritance	7234	TRU-TCA1-1	OMIM:620198
HP:0034345	Mendelian inheritance	157855	KCNU1	OMIM:620196
HP:0034345	Mendelian inheritance	3339	HSPG2	OMIM:224410
HP:0034345	Mendelian inheritance	3339	HSPG2	OMIM:255800
HP:0034345	Mendelian inheritance	916	CD3E	OMIM:615615
HP:0034345	Mendelian inheritance	2961	GTF2E2	OMIM:616943
HP:0034345	Mendelian inheritance	51567	TDP2	OMIM:616949
HP:0034345	Mendelian inheritance	200403	VWA3B	OMIM:616948
HP:0034345	Mendelian inheritance	915	CD3D	OMIM:615617
HP:0034345	Mendelian inheritance	93426	SYCE1	OMIM:616947
HP:0034345	Mendelian inheritance	93426	SYCE1	OMIM:616950
HP:0034345	Mendelian inheritance	701	BUB1B	OMIM:257300
HP:0034345	Mendelian inheritance	64788	LMF1	OMIM:246650
HP:0034345	Mendelian inheritance	57560	IFT80	OMIM:611263
HP:0034345	Mendelian inheritance	51308	REEP2	OMIM:615625
HP:0034345	Mendelian inheritance	9894	TELO2	OMIM:616954
HP:0034345	Mendelian inheritance	51095	TRNT1	OMIM:616959
HP:0034345	Mendelian inheritance	51095	TRNT1	OMIM:616084
HP:0034345	Mendelian inheritance	56052	ALG1	OMIM:608540
HP:0034345	Mendelian inheritance	8518	ELP1	OMIM:223900
HP:0034345	Mendelian inheritance	8518	ELP1	OMIM:155255
HP:0034345	Mendelian inheritance	84627	ZNF469	OMIM:229200
HP:0034345	Mendelian inheritance	89891	DYNC2I2	OMIM:615633
HP:0034345	Mendelian inheritance	2584	GALK1	OMIM:230200
HP:0034345	Mendelian inheritance	84529	CDIN1	OMIM:615631
HP:0034345	Mendelian inheritance	132	ADK	OMIM:614300
HP:0034345	Mendelian inheritance	79848	CSPP1	OMIM:615636
HP:0034345	Mendelian inheritance	11133	KPTN	OMIM:615637
HP:0034345	Mendelian inheritance	50506	DUOX2	OMIM:607200
HP:0034345	Mendelian inheritance	23600	AMACR	OMIM:614307
HP:0034345	Mendelian inheritance	23600	AMACR	OMIM:214950
HP:0034345	Mendelian inheritance	79650	USB1	OMIM:604173
HP:0034345	Mendelian inheritance	9150	CTDP1	OMIM:604168
HP:0034345	Mendelian inheritance	9948	WDR1	OMIM:150550
HP:0034345	Mendelian inheritance	3074	HEXB	OMIM:268800
HP:0034345	Mendelian inheritance	27034	ACAD8	OMIM:611283
HP:0034345	Mendelian inheritance	54931	TRMT10C	OMIM:616974
HP:0034345	Mendelian inheritance	7200	TRH	OMIM:275120
HP:0034345	Mendelian inheritance	23732	FRRS1L	OMIM:616981
HP:0034345	Mendelian inheritance	1181	CLCN2	OMIM:615651
HP:0034345	Mendelian inheritance	29893	PSMC3IP	OMIM:614324
HP:0034345	Mendelian inheritance	4358	MPV17	OMIM:256810
HP:0034345	Mendelian inheritance	4358	MPV17	OMIM:618400
HP:0034345	Mendelian inheritance	10342	TFG	OMIM:615658
HP:0034345	Mendelian inheritance	6868	ADAM17	OMIM:614328
HP:0034345	Mendelian inheritance	9378	NRXN1	OMIM:614325
HP:0034345	Mendelian inheritance	84693	MCEE	OMIM:251120
HP:0034345	Mendelian inheritance	3712	IVD	OMIM:243500
HP:0034345	Mendelian inheritance	8647	ABCB11	OMIM:605479
HP:0034345	Mendelian inheritance	8647	ABCB11	OMIM:601847
HP:0034345	Mendelian inheritance	7098	TLR3	OMIM:613002
HP:0034345	Mendelian inheritance	5147	PDE6D	OMIM:615665
HP:0034345	Mendelian inheritance	545	ATR	OMIM:210600
HP:0034345	Mendelian inheritance	128637	TBC1D20	OMIM:615663
HP:0034345	Mendelian inheritance	55969	RAB5IF	OMIM:616994
HP:0034345	Mendelian inheritance	4914	NTRK1	OMIM:256800
HP:0034345	Mendelian inheritance	5406	PNLIP	OMIM:614338
HP:0034345	Mendelian inheritance	326625	MMAB	OMIM:251110
HP:0034345	Mendelian inheritance	84059	ADGRV1	OMIM:605472
HP:0034345	Mendelian inheritance	11078	TRIOBP	OMIM:609823
HP:0034345	Mendelian inheritance	10367	MICU1	OMIM:615673
HP:0034345	Mendelian inheritance	3702	ITK	OMIM:613011
HP:0034345	Mendelian inheritance	55180	LINS1	OMIM:614340
HP:0034345	Mendelian inheritance	1103	CHAT	OMIM:254210
HP:0034345	Mendelian inheritance	189	AGXT	OMIM:259900
HP:0034345	Mendelian inheritance	80152	CENPT	OMIM:618702
HP:0034345	Mendelian inheritance	64805	P2RY12	OMIM:609821
HP:0034345	Mendelian inheritance	3955	LFNG	OMIM:609813
HP:0034345	Mendelian inheritance	953	ENTPD1	OMIM:615683
HP:0034345	Mendelian inheritance	10613	ERLIN1	OMIM:615681
HP:0034345	Mendelian inheritance	23204	ARL6IP1	OMIM:615685
HP:0034345	Mendelian inheritance	5261	PHKG2	OMIM:613027
HP:0034345	Mendelian inheritance	54658	UGT1A1	OMIM:606785
HP:0034345	Mendelian inheritance	54658	UGT1A1	OMIM:218800
HP:0034345	Mendelian inheritance	54658	UGT1A1	OMIM:237900
HP:0034345	Mendelian inheritance	54658	UGT1A1	OMIM:143500
HP:0034345	Mendelian inheritance	84628	NTNG2	OMIM:618718
HP:0034345	Mendelian inheritance	51	ACOX1	OMIM:264470
HP:0034345	Mendelian inheritance	6513	SLC2A1	OMIM:606777
HP:0034345	Mendelian inheritance	204	AK2	OMIM:267500
HP:0034345	Mendelian inheritance	2806	GOT2	OMIM:618721
HP:0034345	Mendelian inheritance	5449	POU1F1	OMIM:613038
HP:0034345	Mendelian inheritance	7473	WNT3	OMIM:273395
HP:0034345	Mendelian inheritance	8086	AAAS	OMIM:231550
HP:0034345	Mendelian inheritance	8139	GAN	OMIM:256850
HP:0034345	Mendelian inheritance	1439	CSF2RB	OMIM:614370
HP:0034345	Mendelian inheritance	51075	TMX2	OMIM:618730
HP:0034345	Mendelian inheritance	57647	DHX37	OMIM:618731
HP:0034345	Mendelian inheritance	22948	CCT5	OMIM:256840
HP:0034345	Mendelian inheritance	51763	INPP5K	OMIM:617404
HP:0034345	Mendelian inheritance	10844	TUBGCP2	OMIM:618737
HP:0034345	Mendelian inheritance	523	ATP6V1A	OMIM:617403
HP:0034345	Mendelian inheritance	529	ATP6V1E1	OMIM:617402
HP:0034345	Mendelian inheritance	255758	DYNLT2B	OMIM:617405
HP:0034345	Mendelian inheritance	9381	OTOF	OMIM:601071
HP:0034345	Mendelian inheritance	64699	TMPRSS3	OMIM:601072
HP:0034345	Mendelian inheritance	352909	DNAAF3	OMIM:606763
HP:0034345	Mendelian inheritance	7252	TSHB	OMIM:275100
HP:0034345	Mendelian inheritance	3551	IKBKB	OMIM:615592
HP:0034345	Mendelian inheritance	10617	STAMBP	OMIM:614261
HP:0034345	Mendelian inheritance	57128	LYRM4	OMIM:615595
HP:0034345	Mendelian inheritance	197322	ACSF3	OMIM:614265
HP:0034345	Mendelian inheritance	3703	STT3A	OMIM:615596
HP:0034345	Mendelian inheritance	7293	TNFRSF4	OMIM:615593
HP:0034345	Mendelian inheritance	6873	TAF2	OMIM:615599
HP:0034345	Mendelian inheritance	1000	CDH2	OMIM:619957
HP:0034345	Mendelian inheritance	201595	STT3B	OMIM:615597
HP:0034345	Mendelian inheritance	8710	SERPINB7	OMIM:615598
HP:0034345	Mendelian inheritance	26873	OPLAH	OMIM:260005
HP:0034345	Mendelian inheritance	55627	SMPD4	OMIM:618622
HP:0034345	Mendelian inheritance	23417	MLYCD	OMIM:248360
HP:0034345	Mendelian inheritance	5361	PLXNA1	OMIM:619955
HP:0034345	Mendelian inheritance	64682	ANAPC1	OMIM:618625
HP:0034345	Mendelian inheritance	5830	PEX5	OMIM:214110
HP:0034345	Mendelian inheritance	5830	PEX5	OMIM:616716
HP:0034345	Mendelian inheritance	5830	PEX5	OMIM:202370
HP:0034345	Mendelian inheritance	1131	CHRM3	OMIM:100100
HP:0034345	Mendelian inheritance	64094	SMOC2	OMIM:125400
HP:0034345	Mendelian inheritance	9380	GRHPR	OMIM:260000
HP:0034345	Mendelian inheritance	6536	SLC6A9	OMIM:617301
HP:0034345	Mendelian inheritance	1646	AKR1C2	OMIM:614279
HP:0034345	Mendelian inheritance	1109	AKR1C4	OMIM:614279
HP:0034345	Mendelian inheritance	92840	REEP6	OMIM:617304
HP:0034345	Mendelian inheritance	65082	VPS33A	OMIM:617303
HP:0034345	Mendelian inheritance	7941	PLA2G7	OMIM:614278
HP:0034345	Mendelian inheritance	10730	YME1L1	OMIM:617302
HP:0034345	Mendelian inheritance	8309	ACOX2	OMIM:617308
HP:0034345	Mendelian inheritance	128486	FITM2	OMIM:618635
HP:0034345	Mendelian inheritance	57156	TMEM63C	OMIM:619966
HP:0034345	Mendelian inheritance	4286	MITF	OMIM:617306
HP:0034345	Mendelian inheritance	9200	HACD1	OMIM:619967
HP:0034345	Mendelian inheritance	7486	WRN	OMIM:277700
HP:0034345	Mendelian inheritance	5189	PEX1	OMIM:214100
HP:0034345	Mendelian inheritance	5189	PEX1	OMIM:234580
HP:0034345	Mendelian inheritance	5189	PEX1	OMIM:601539
HP:0034345	Mendelian inheritance	55034	MOCOS	OMIM:603592
HP:0034345	Mendelian inheritance	10559	SLC35A1	OMIM:603585
HP:0034345	Mendelian inheritance	54	ACP5	OMIM:607944
HP:0034345	Mendelian inheritance	535	ATP6V0A1	OMIM:619971
HP:0034345	Mendelian inheritance	60561	RINT1	OMIM:618641
HP:0034345	Mendelian inheritance	129685	TAF8	OMIM:619972
HP:0034345	Mendelian inheritance	10584	COLEC10	OMIM:248340
HP:0034345	Mendelian inheritance	8632	DNAH17	OMIM:618643
HP:0034345	Mendelian inheritance	1298	COL9A2	OMIM:614284
HP:0034345	Mendelian inheritance	10379	IRF9	OMIM:618648
HP:0034345	Mendelian inheritance	23184	MESD	OMIM:618644
HP:0034345	Mendelian inheritance	27151	CPAMD8	OMIM:617319
HP:0034345	Mendelian inheritance	170825	GSX2	OMIM:618646
HP:0034345	Mendelian inheritance	6445	SGCG	OMIM:253700
HP:0034345	Mendelian inheritance	1475	CSTA	OMIM:607936
HP:0034345	Mendelian inheritance	154288	KHDC3L	OMIM:614293
HP:0034345	Mendelian inheritance	22872	SEC31A	OMIM:618651
HP:0034345	Mendelian inheritance	283987	HID1	OMIM:619983
HP:0034345	Mendelian inheritance	55214	P3H2	OMIM:614292
HP:0034345	Mendelian inheritance	497661	C18orf32	OMIM:619985
HP:0034345	Mendelian inheritance	3612	IMPA1	OMIM:617323
HP:0034345	Mendelian inheritance	56992	KIF15	OMIM:619981
HP:0034345	Mendelian inheritance	23581	CASP14	OMIM:617320
HP:0034345	Mendelian inheritance	388962	BOLA3	OMIM:614299
HP:0034345	Mendelian inheritance	55521	TRIM36	OMIM:206500
HP:0034345	Mendelian inheritance	9731	CEP104	OMIM:619988
HP:0034345	Mendelian inheritance	9731	CEP104	OMIM:616781
HP:0034345	Mendelian inheritance	55623	THUMPD1	OMIM:619989
HP:0034345	Mendelian inheritance	105371045	PERCC1	OMIM:618662
HP:0034345	Mendelian inheritance	23432	GPR161	OMIM:155255
HP:0034345	Mendelian inheritance	8643	PTCH2	OMIM:155255
HP:0034345	Mendelian inheritance	1499	CTNNB1	OMIM:155255
HP:0034345	Mendelian inheritance	255101	CFAP65	OMIM:618664
HP:0034345	Mendelian inheritance	29081	METTL5	OMIM:618665
HP:0034345	Mendelian inheritance	54914	FOCAD	OMIM:619991
HP:0034345	Mendelian inheritance	5792	PTPRF	OMIM:616001
HP:0034345	Mendelian inheritance	2936	GSR	OMIM:618660
HP:0034345	Mendelian inheritance	55699	IARS2	OMIM:616007
HP:0034345	Mendelian inheritance	79633	FAT4	OMIM:616006
HP:0034345	Mendelian inheritance	79633	FAT4	OMIM:615546
HP:0034345	Mendelian inheritance	84665	MYPN	OMIM:617336
HP:0034345	Mendelian inheritance	64240	ABCG5	OMIM:618666
HP:0034345	Mendelian inheritance	4191	MDH2	OMIM:617339
HP:0034345	Mendelian inheritance	166785	MMAA	OMIM:251100
HP:0034345	Mendelian inheritance	2248	FGF3	OMIM:610706
HP:0034345	Mendelian inheritance	5551	PRF1	OMIM:603553
HP:0034345	Mendelian inheritance	8676	STX11	OMIM:603552
HP:0034345	Mendelian inheritance	79991	STN1	OMIM:617341
HP:0034345	Mendelian inheritance	118491	CFAP70	OMIM:618670
HP:0034345	Mendelian inheritance	10297	APC2	OMIM:618677
HP:0034345	Mendelian inheritance	10297	APC2	OMIM:617169
HP:0034345	Mendelian inheritance	57104	PNPLA2	OMIM:610717
HP:0034345	Mendelian inheritance	147409	DSG4	OMIM:607903
HP:0034345	Mendelian inheritance	6324	SCN1B	OMIM:617350
HP:0034345	Mendelian inheritance	9922	IQSEC1	OMIM:618687
HP:0034345	Mendelian inheritance	284098	PIGW	OMIM:616025
HP:0034345	Mendelian inheritance	4193	MDM2	OMIM:618681
HP:0034345	Mendelian inheritance	84833	ATP5MK	OMIM:618683
HP:0034345	Mendelian inheritance	84522	JAGN1	OMIM:616022
HP:0034345	Mendelian inheritance	79977	GRHL2	OMIM:616029
HP:0034345	Mendelian inheritance	2591	GALNT3	OMIM:211900
HP:0034345	Mendelian inheritance	5213	PFKM	OMIM:232800
HP:0034345	Mendelian inheritance	51196	PLCE1	OMIM:610725
HP:0034345	Mendelian inheritance	345643	MCIDAS	OMIM:618695
HP:0034345	Mendelian inheritance	133686	NADK2	OMIM:616034
HP:0034345	Mendelian inheritance	93587	TRMT10A	OMIM:616033
HP:0034345	Mendelian inheritance	1337	COX6A1	OMIM:616039
HP:0034345	Mendelian inheritance	115948	ODAD3	OMIM:616037
HP:0034345	Mendelian inheritance	10456	HAX1	OMIM:610738
HP:0034345	Mendelian inheritance	23111	SPART	OMIM:275900
HP:0034345	Mendelian inheritance	8504	PEX3	OMIM:617370
HP:0034345	Mendelian inheritance	8504	PEX3	OMIM:614882
HP:0034345	Mendelian inheritance	53405	CLIC5	OMIM:616042
HP:0034345	Mendelian inheritance	23345	SYNE1	OMIM:610743
HP:0034345	Mendelian inheritance	23345	SYNE1	OMIM:618484
HP:0034345	Mendelian inheritance	56521	DNAJC12	OMIM:617384
HP:0034345	Mendelian inheritance	100151683	RNU4ATAC	OMIM:226960
HP:0034345	Mendelian inheritance	100151683	RNU4ATAC	OMIM:210710
HP:0034345	Mendelian inheritance	100151683	RNU4ATAC	OMIM:616651
HP:0034345	Mendelian inheritance	1062	CENPE	OMIM:616051
HP:0034345	Mendelian inheritance	8867	SYNJ1	OMIM:617389
HP:0034345	Mendelian inheritance	8867	SYNJ1	OMIM:615530
HP:0034345	Mendelian inheritance	10126	DNAL4	OMIM:616059
HP:0034345	Mendelian inheritance	9622	KLK4	OMIM:204700
HP:0034345	Mendelian inheritance	2067	ERCC1	OMIM:610758
HP:0034345	Mendelian inheritance	10166	SLC25A15	OMIM:238970
HP:0034345	Mendelian inheritance	83999	KREMEN1	OMIM:617392
HP:0034345	Mendelian inheritance	3938	LCT	OMIM:223000
HP:0034345	Mendelian inheritance	10940	POP1	OMIM:617396
HP:0034345	Mendelian inheritance	22796	COG2	OMIM:617395
HP:0034345	Mendelian inheritance	1956	EGFR	OMIM:616069
HP:0034345	Mendelian inheritance	3394	IRF8	OMIM:226990
HP:0034345	Mendelian inheritance	11274	USP18	OMIM:617397
HP:0034345	Mendelian inheritance	1585	CYP11B2	OMIM:203400
HP:0034345	Mendelian inheritance	1585	CYP11B2	OMIM:610600
HP:0034345	Mendelian inheritance	22845	DOLK	OMIM:610768
HP:0034345	Mendelian inheritance	4864	NPC1	OMIM:257220
HP:0034345	Mendelian inheritance	80324	PUS1	OMIM:600462
HP:0034345	Mendelian inheritance	22873	DZIP1	OMIM:619102
HP:0034345	Mendelian inheritance	9451	EIF2AK3	OMIM:226980
HP:0034345	Mendelian inheritance	5395	PMS2	OMIM:619101
HP:0034345	Mendelian inheritance	5250	SLC25A3	OMIM:610773
HP:0034345	Mendelian inheritance	5000	ORC4	OMIM:613800
HP:0034345	Mendelian inheritance	130951	M1AP	OMIM:619108
HP:0034345	Mendelian inheritance	2683	B4GALT1	OMIM:607091
HP:0034345	Mendelian inheritance	5158	PDE6B	OMIM:613801
HP:0034345	Mendelian inheritance	81620	CDT1	OMIM:613804
HP:0034345	Mendelian inheritance	23594	ORC6	OMIM:613803
HP:0034345	Mendelian inheritance	990	CDC6	OMIM:613805
HP:0034345	Mendelian inheritance	55036	CCDC40	OMIM:613808
HP:0034345	Mendelian inheritance	339829	CCDC39	OMIM:613807
HP:0034345	Mendelian inheritance	11340	EXOSC8	OMIM:616081
HP:0034345	Mendelian inheritance	1021	CDK6	OMIM:616080
HP:0034345	Mendelian inheritance	29895	MYL11	OMIM:619110
HP:0034345	Mendelian inheritance	57545	CC2D2A	OMIM:619111
HP:0034345	Mendelian inheritance	57545	CC2D2A	OMIM:619845
HP:0034345	Mendelian inheritance	57545	CC2D2A	OMIM:612285
HP:0034345	Mendelian inheritance	57545	CC2D2A	OMIM:612284
HP:0034345	Mendelian inheritance	55526	DHTKD1	OMIM:204750
HP:0034345	Mendelian inheritance	79005	SCNM1	OMIM:620107
HP:0034345	Mendelian inheritance	51091	SEPSECS	OMIM:613811
HP:0034345	Mendelian inheritance	5145	PDE6A	OMIM:613810
HP:0034345	Mendelian inheritance	50846	DHH	OMIM:607080
HP:0034345	Mendelian inheritance	50846	DHH	OMIM:233420
HP:0034345	Mendelian inheritance	84839	RAX2	OMIM:620102
HP:0034345	Mendelian inheritance	8468	FKBP6	OMIM:620103
HP:0034345	Mendelian inheritance	4796	TONSL	OMIM:271510
HP:0034345	Mendelian inheritance	79809	TTC21B	OMIM:613819
HP:0034345	Mendelian inheritance	79809	TTC21B	OMIM:613820
HP:0034345	Mendelian inheritance	113189	CHST14	OMIM:601776
HP:0034345	Mendelian inheritance	2916	GRM6	OMIM:257270
HP:0034345	Mendelian inheritance	6573	SLC19A1	OMIM:601775
HP:0034345	Mendelian inheritance	2571	GAD1	OMIM:619124
HP:0034345	Mendelian inheritance	8915	BCL10	OMIM:616098
HP:0034345	Mendelian inheritance	90522	YIF1B	OMIM:619125
HP:0034345	Mendelian inheritance	54790	TET2	OMIM:619126
HP:0034345	Mendelian inheritance	10651	MTX2	OMIM:619127
HP:0034345	Mendelian inheritance	6566	SLC16A1	OMIM:616095
HP:0034345	Mendelian inheritance	55755	CDK5RAP2	OMIM:604804
HP:0034345	Mendelian inheritance	6472	SHMT2	OMIM:619121
HP:0034345	Mendelian inheritance	90416	CCDC32	OMIM:619123
HP:0034345	Mendelian inheritance	10161	LPAR6	OMIM:278150
HP:0034345	Mendelian inheritance	284086	NEK8	OMIM:613824
HP:0034345	Mendelian inheritance	284086	NEK8	OMIM:615415
HP:0034345	Mendelian inheritance	28956	LAMTOR2	OMIM:610798
HP:0034345	Mendelian inheritance	118924	FRA10AC1	OMIM:620113
HP:0034345	Mendelian inheritance	23169	SLC35D1	OMIM:269250
HP:0034345	Mendelian inheritance	22995	CEP152	OMIM:613823
HP:0034345	Mendelian inheritance	22995	CEP152	OMIM:614852
HP:0034345	Mendelian inheritance	57096	RPGRIP1	OMIM:613826
HP:0034345	Mendelian inheritance	57096	RPGRIP1	OMIM:608194
HP:0034345	Mendelian inheritance	57020	VPS35L	OMIM:619135
HP:0034345	Mendelian inheritance	11014	KDELR2	OMIM:619131
HP:0034345	Mendelian inheritance	57152	SLURP1	OMIM:248300
HP:0034345	Mendelian inheritance	55835	CENPJ	OMIM:608393
HP:0034345	Mendelian inheritance	55835	CENPJ	OMIM:613676
HP:0034345	Mendelian inheritance	100	ADA	OMIM:102700
HP:0034345	Mendelian inheritance	383	ARG1	OMIM:207800
HP:0034345	Mendelian inheritance	9187	SLC24A1	OMIM:613830
HP:0034345	Mendelian inheritance	6340	SCNN1G	OMIM:620126
HP:0034345	Mendelian inheritance	6338	SCNN1B	OMIM:620125
HP:0034345	Mendelian inheritance	1719	DHFR	OMIM:613839
HP:0034345	Mendelian inheritance	224	ALDH3A2	OMIM:270200
HP:0034345	Mendelian inheritance	7516	XRCC2	OMIM:619146
HP:0034345	Mendelian inheritance	7516	XRCC2	OMIM:619145
HP:0034345	Mendelian inheritance	7516	XRCC2	OMIM:617247
HP:0034345	Mendelian inheritance	5626	PROP1	OMIM:262600
HP:0034345	Mendelian inheritance	1586	CYP17A1	OMIM:202110
HP:0034345	Mendelian inheritance	159686	CFAP58	OMIM:619144
HP:0034345	Mendelian inheritance	375298	CERKL	OMIM:608380
HP:0034345	Mendelian inheritance	7388	UQCRH	OMIM:620137
HP:0034345	Mendelian inheritance	7389	UROD	OMIM:176100
HP:0034345	Mendelian inheritance	3077	HFE	OMIM:176100
HP:0034345	Mendelian inheritance	3077	HFE	OMIM:235200
HP:0034345	Mendelian inheritance	90523	MLIP	OMIM:620138
HP:0034345	Mendelian inheritance	4713	NDUFB7	OMIM:620135
HP:0034345	Mendelian inheritance	54938	SARS2	OMIM:613845
HP:0034345	Mendelian inheritance	871	SERPINH1	OMIM:613848
HP:0034345	Mendelian inheritance	64858	DCLRE1B	OMIM:620133
HP:0034345	Mendelian inheritance	26275	HIBCH	OMIM:250620
HP:0034345	Mendelian inheritance	50640	PNPLA8	OMIM:251950
HP:0034345	Mendelian inheritance	55172	DNAAF2	OMIM:612518
HP:0034345	Mendelian inheritance	121340	SP7	OMIM:613849
HP:0034345	Mendelian inheritance	84189	SLITRK6	OMIM:221200
HP:0034345	Mendelian inheritance	126326	GIPC3	OMIM:601869
HP:0034345	Mendelian inheritance	8838	CCN6	OMIM:208230
HP:0034345	Mendelian inheritance	51181	DCXR	OMIM:260800
HP:0034345	Mendelian inheritance	83700	JAM3	OMIM:613730
HP:0034345	Mendelian inheritance	7109	TRAPPC10	OMIM:620027
HP:0034345	Mendelian inheritance	55325	UFSP2	OMIM:620028
HP:0034345	Mendelian inheritance	8854	ALDH1A2	OMIM:620025
HP:0034345	Mendelian inheritance	1119	CHKA	OMIM:620023
HP:0034345	Mendelian inheritance	8496	PPFIBP1	OMIM:620024
HP:0034345	Mendelian inheritance	118987	PDZD8	OMIM:620021
HP:0034345	Mendelian inheritance	1299	COL9A3	OMIM:620022
HP:0034345	Mendelian inheritance	501	ALDH7A1	OMIM:266100
HP:0034345	Mendelian inheritance	3073	HEXA	OMIM:272800
HP:0034345	Mendelian inheritance	6840	SVIL	OMIM:619040
HP:0034345	Mendelian inheritance	183	AGT	OMIM:267430
HP:0034345	Mendelian inheritance	5972	REN	OMIM:267430
HP:0034345	Mendelian inheritance	185	AGTR1	OMIM:267430
HP:0034345	Mendelian inheritance	1636	ACE	OMIM:267430
HP:0034345	Mendelian inheritance	6341	SCO1	OMIM:619048
HP:0034345	Mendelian inheritance	162	AP1B1	OMIM:242150
HP:0034345	Mendelian inheritance	201134	CEP112	OMIM:619044
HP:0034345	Mendelian inheritance	1352	COX10	OMIM:619046
HP:0034345	Mendelian inheritance	57674	RNF213	OMIM:607151
HP:0034345	Mendelian inheritance	5689	PSMB1	OMIM:620038
HP:0034345	Mendelian inheritance	23431	AP4E1	OMIM:613744
HP:0034345	Mendelian inheritance	2160	F11	OMIM:612416
HP:0034345	Mendelian inheritance	8382	NME5	OMIM:620032
HP:0034345	Mendelian inheritance	63908	NAPB	OMIM:620033
HP:0034345	Mendelian inheritance	1340	COX6B1	OMIM:619051
HP:0034345	Mendelian inheritance	51204	TACO1	OMIM:619052
HP:0034345	Mendelian inheritance	84987	COX14	OMIM:619053
HP:0034345	Mendelian inheritance	28958	COA3	OMIM:619058
HP:0034345	Mendelian inheritance	10216	PRG4	OMIM:208250
HP:0034345	Mendelian inheritance	1351	COX8A	OMIM:619059
HP:0034345	Mendelian inheritance	116228	COX20	OMIM:619054
HP:0034345	Mendelian inheritance	100131801	PET100	OMIM:619055
HP:0034345	Mendelian inheritance	55037	PTCD3	OMIM:619057
HP:0034345	Mendelian inheritance	1136	CHRNA3	OMIM:191800
HP:0034345	Mendelian inheritance	191	AHCY	OMIM:613752
HP:0034345	Mendelian inheritance	340024	SLC6A19	OMIM:234500
HP:0034345	Mendelian inheritance	3818	KLKB1	OMIM:612423
HP:0034345	Mendelian inheritance	3911	LAMA5	OMIM:620049
HP:0034345	Mendelian inheritance	3911	LAMA5	OMIM:620076
HP:0034345	Mendelian inheritance	10015	PDCD6IP	OMIM:620047
HP:0034345	Mendelian inheritance	55107	ANO1	OMIM:620045
HP:0034345	Mendelian inheritance	8772	FADD	OMIM:613759
HP:0034345	Mendelian inheritance	1854	DUT	OMIM:620044
HP:0034345	Mendelian inheritance	79087	ALG12	OMIM:607143
HP:0034345	Mendelian inheritance	84334	COA8	OMIM:619061
HP:0034345	Mendelian inheritance	1339	COX6A2	OMIM:619062
HP:0034345	Mendelian inheritance	100303755	PET117	OMIM:619063
HP:0034345	Mendelian inheritance	9377	COX5A	OMIM:619064
HP:0034345	Mendelian inheritance	1327	COX4I1	OMIM:619060
HP:0034345	Mendelian inheritance	4697	NDUFA4	OMIM:619065
HP:0034345	Mendelian inheritance	1258	CNGB1	OMIM:613767
HP:0034345	Mendelian inheritance	55157	DARS2	OMIM:611105
HP:0034345	Mendelian inheritance	5995	RGR	OMIM:613769
HP:0034345	Mendelian inheritance	144165	PRICKLE1	OMIM:612437
HP:0034345	Mendelian inheritance	9333	TGM5	OMIM:609796
HP:0034345	Mendelian inheritance	23265	EXOC7	OMIM:619072
HP:0034345	Mendelian inheritance	1802	DPH2	OMIM:620062
HP:0034345	Mendelian inheritance	2615	LRRC32	OMIM:619074
HP:0034345	Mendelian inheritance	3767	KCNJ11	OMIM:601820
HP:0034345	Mendelian inheritance	5091	PC	OMIM:266150
HP:0034345	Mendelian inheritance	1267	CNP	OMIM:619071
HP:0034345	Mendelian inheritance	149371	EXOC8	OMIM:619076
HP:0034345	Mendelian inheritance	4035	LRP1	OMIM:604093
HP:0034345	Mendelian inheritance	64446	DNAI2	OMIM:612444
HP:0034345	Mendelian inheritance	285175	UNC80	OMIM:616801
HP:0034345	Mendelian inheritance	729	C6	OMIM:612446
HP:0034345	Mendelian inheritance	4595	MUTYH	OMIM:608456
HP:0034345	Mendelian inheritance	718	C3	OMIM:613779
HP:0034345	Mendelian inheritance	171019	ADAMTS19	OMIM:620067
HP:0034345	Mendelian inheritance	83475	DOHH	OMIM:620066
HP:0034345	Mendelian inheritance	84992	PIGY	OMIM:616809
HP:0034345	Mendelian inheritance	55027	HEATR3	OMIM:620072
HP:0034345	Mendelian inheritance	5700	PSMC1	OMIM:620071
HP:0034345	Mendelian inheritance	6558	SLC12A2	OMIM:619080
HP:0034345	Mendelian inheritance	79816	TLE6	OMIM:616814
HP:0034345	Mendelian inheritance	11149	BVES	OMIM:616812
HP:0034345	Mendelian inheritance	732	C8B	OMIM:613789
HP:0034345	Mendelian inheritance	28976	ACAD9	OMIM:611126
HP:0034345	Mendelian inheritance	25828	TXN2	OMIM:616811
HP:0034345	Mendelian inheritance	84919	PPP1R15B	OMIM:616817
HP:0034345	Mendelian inheritance	51244	CCDC174	OMIM:616816
HP:0034345	Mendelian inheritance	54862	CC2D1A	OMIM:608443
HP:0034345	Mendelian inheritance	55691	FRMD4A	OMIM:616819
HP:0034345	Mendelian inheritance	10430	TMEM147	OMIM:620075
HP:0034345	Mendelian inheritance	146754	DNAH2	OMIM:619094
HP:0034345	Mendelian inheritance	91057	CCDC34	OMIM:620084
HP:0034345	Mendelian inheritance	1769	DNAH8	OMIM:619095
HP:0034345	Mendelian inheritance	4436	MSH2	OMIM:619096
HP:0034345	Mendelian inheritance	2956	MSH6	OMIM:619097
HP:0034345	Mendelian inheritance	4677	NARS1	OMIM:619091
HP:0034345	Mendelian inheritance	9080	CLDN9	OMIM:619093
HP:0034345	Mendelian inheritance	731	C8A	OMIM:613790
HP:0034345	Mendelian inheritance	9147	NEMF	OMIM:619099
HP:0034345	Mendelian inheritance	10747	MASP2	OMIM:613791
HP:0034345	Mendelian inheritance	6121	RPE65	OMIM:613794
HP:0034345	Mendelian inheritance	6121	RPE65	OMIM:204100
HP:0034345	Mendelian inheritance	10002	NR2E3	OMIM:611131
HP:0034345	Mendelian inheritance	10002	NR2E3	OMIM:268100
HP:0034345	Mendelian inheritance	1604	CD55	OMIM:613793
HP:0034345	Mendelian inheritance	1604	CD55	OMIM:226300
HP:0034345	Mendelian inheritance	6772	STAT1	OMIM:613796
HP:0034345	Mendelian inheritance	147007	TMEM199	OMIM:616829
HP:0034345	Mendelian inheritance	84317	CCDC115	OMIM:616828
HP:0034345	Mendelian inheritance	53904	MYO3A	OMIM:607101
HP:0034345	Mendelian inheritance	55679	LIMS2	OMIM:616827
HP:0034345	Mendelian inheritance	3954	LETM1	OMIM:620089
HP:0034345	Mendelian inheritance	51251	NT5C3A	OMIM:266120
HP:0034345	Mendelian inheritance	2581	GALC	OMIM:245200
HP:0034345	Mendelian inheritance	56683	CFAP298	OMIM:615500
HP:0034345	Mendelian inheritance	10243	GPHN	OMIM:615501
HP:0034345	Mendelian inheritance	10243	GPHN	OMIM:149400
HP:0034345	Mendelian inheritance	80207	OPA3	OMIM:258501
HP:0034345	Mendelian inheritance	85478	CCDC65	OMIM:615504
HP:0034345	Mendelian inheritance	6674	SPAG1	OMIM:615505
HP:0034345	Mendelian inheritance	6307	MSMO1	OMIM:616834
HP:0034345	Mendelian inheritance	55112	DYNC2I1	OMIM:615503
HP:0034345	Mendelian inheritance	1828	DSG1	OMIM:615508
HP:0034345	Mendelian inheritance	81034	SLC25A32	OMIM:616839
HP:0034345	Mendelian inheritance	4359	MPZ	OMIM:145900
HP:0034345	Mendelian inheritance	5376	PMP22	OMIM:145900
HP:0034345	Mendelian inheritance	1959	EGR2	OMIM:145900
HP:0034345	Mendelian inheritance	1959	EGR2	OMIM:605253
HP:0034345	Mendelian inheritance	57716	PRX	OMIM:145900
HP:0034345	Mendelian inheritance	57716	PRX	OMIM:614895
HP:0034345	Mendelian inheritance	8787	RGS9	OMIM:608415
HP:0034345	Mendelian inheritance	270	AMPD1	OMIM:615511
HP:0034345	Mendelian inheritance	9780	PIEZO1	OMIM:616843
HP:0034345	Mendelian inheritance	4907	NT5E	OMIM:211800
HP:0034345	Mendelian inheritance	7167	TPI1	OMIM:615512
HP:0034345	Mendelian inheritance	29926	GMPPA	OMIM:615510
HP:0034345	Mendelian inheritance	54832	VPS13C	OMIM:616840
HP:0034345	Mendelian inheritance	8924	HERC2	OMIM:615516
HP:0034345	Mendelian inheritance	1417	CRYBB3	OMIM:609741
HP:0034345	Mendelian inheritance	10	NAT2	OMIM:243400
HP:0034345	Mendelian inheritance	5443	POMC	OMIM:609734
HP:0034345	Mendelian inheritance	5443	POMC	OMIM:601665
HP:0034345	Mendelian inheritance	948	CD36	OMIM:608404
HP:0034345	Mendelian inheritance	3313	HSPA9	OMIM:616854
HP:0034345	Mendelian inheritance	23094	SIPA1L3	OMIM:616851
HP:0034345	Mendelian inheritance	10758	TRAF3IP2	OMIM:615527
HP:0034345	Mendelian inheritance	5915	RARB	OMIM:615524
HP:0034345	Mendelian inheritance	9829	DNAJC6	OMIM:615528
HP:0034345	Mendelian inheritance	51218	GLRX5	OMIM:616859
HP:0034345	Mendelian inheritance	51218	GLRX5	OMIM:616860
HP:0034345	Mendelian inheritance	10265	IRX5	OMIM:611174
HP:0034345	Mendelian inheritance	11253	MAN1B1	OMIM:614202
HP:0034345	Mendelian inheritance	10841	FTCD	OMIM:229100
HP:0034345	Mendelian inheritance	55806	HR	OMIM:209500
HP:0034345	Mendelian inheritance	55806	HR	OMIM:203655
HP:0034345	Mendelian inheritance	51206	GP6	OMIM:614201
HP:0034345	Mendelian inheritance	27315	PGAP2	OMIM:614207
HP:0034345	Mendelian inheritance	6550	SLC9A3	OMIM:616868
HP:0034345	Mendelian inheritance	51008	ASCC1	OMIM:616867
HP:0034345	Mendelian inheritance	26525	IL36RN	OMIM:614204
HP:0034345	Mendelian inheritance	83987	CCDC8	OMIM:614205
HP:0034345	Mendelian inheritance	29940	DSE	OMIM:615539
HP:0034345	Mendelian inheritance	27077	B9D1	OMIM:614209
HP:0034345	Mendelian inheritance	27077	B9D1	OMIM:617120
HP:0034345	Mendelian inheritance	4594	MMUT	OMIM:251000
HP:0034345	Mendelian inheritance	23400	ATP13A2	OMIM:606693
HP:0034345	Mendelian inheritance	23400	ATP13A2	OMIM:617225
HP:0034345	Mendelian inheritance	163183	SYNE4	OMIM:615540
HP:0034345	Mendelian inheritance	84342	COG8	OMIM:611182
HP:0034345	Mendelian inheritance	80185	TTI2	OMIM:615541
HP:0034345	Mendelian inheritance	3293	HSD17B3	OMIM:264300
HP:0034345	Mendelian inheritance	7289	TULP3	OMIM:619902
HP:0034345	Mendelian inheritance	23065	EMC1	OMIM:616875
HP:0034345	Mendelian inheritance	128989	TANGO2	OMIM:616878
HP:0034345	Mendelian inheritance	57572	DOCK6	OMIM:614219
HP:0034345	Mendelian inheritance	7138	TNNT1	OMIM:605355
HP:0034345	Mendelian inheritance	7074	TIAM1	OMIM:619908
HP:0034345	Mendelian inheritance	59336	PRDM13	OMIM:619909
HP:0034345	Mendelian inheritance	59336	PRDM13	OMIM:619761
HP:0034345	Mendelian inheritance	242	ALOX12B	OMIM:242100
HP:0034345	Mendelian inheritance	59344	ALOXE3	OMIM:242100
HP:0034345	Mendelian inheritance	59344	ALOXE3	OMIM:606545
HP:0034345	Mendelian inheritance	51501	HIKESHI	OMIM:616881
HP:0034345	Mendelian inheritance	3490	IGFBP7	OMIM:614224
HP:0034345	Mendelian inheritance	5618	PRLR	OMIM:615555
HP:0034345	Mendelian inheritance	81562	LMAN2L	OMIM:616887
HP:0034345	Mendelian inheritance	22931	RAB18	OMIM:614222
HP:0034345	Mendelian inheritance	23443	SLC35A3	OMIM:615553
HP:0034345	Mendelian inheritance	5580	PRKCD	OMIM:615559
HP:0034345	Mendelian inheritance	255928	SYT14	OMIM:614229
HP:0034345	Mendelian inheritance	338	APOB	OMIM:615558
HP:0034345	Mendelian inheritance	23209	MLC1	OMIM:604004
HP:0034345	Mendelian inheritance	51124	IER3IP1	OMIM:614231
HP:0034345	Mendelian inheritance	23165	NUP205	OMIM:616893
HP:0034345	Mendelian inheritance	5075	PAX1	OMIM:615560
HP:0034345	Mendelian inheritance	9688	NUP93	OMIM:616892
HP:0034345	Mendelian inheritance	629	CFB	OMIM:615561
HP:0034345	Mendelian inheritance	5788	PTPRC	OMIM:619924
HP:0034345	Mendelian inheritance	202018	TAPT1	OMIM:616897
HP:0034345	Mendelian inheritance	4976	OPA1	OMIM:616896
HP:0034345	Mendelian inheritance	4976	OPA1	OMIM:210000
HP:0034345	Mendelian inheritance	4751	NEK2	OMIM:615565
HP:0034345	Mendelian inheritance	2741	GLRA1	OMIM:149400
HP:0034345	Mendelian inheritance	55164	SHQ1	OMIM:619921
HP:0034345	Mendelian inheritance	55164	SHQ1	OMIM:619922
HP:0034345	Mendelian inheritance	27232	GNMT	OMIM:606664
HP:0034345	Mendelian inheritance	6337	SCNN1A	OMIM:264350
HP:0034345	Mendelian inheritance	79934	COQ8B	OMIM:615573
HP:0034345	Mendelian inheritance	440	ASNS	OMIM:615574
HP:0034345	Mendelian inheritance	5538	PPT1	OMIM:256730
HP:0034345	Mendelian inheritance	3454	IFNAR1	OMIM:619935
HP:0034345	Mendelian inheritance	1203	CLN5	OMIM:256731
HP:0034345	Mendelian inheritance	119559	SFXN4	OMIM:615578
HP:0034345	Mendelian inheritance	738	VPS51	OMIM:618606
HP:0034345	Mendelian inheritance	4438	MSH4	OMIM:619938
HP:0034345	Mendelian inheritance	4438	MSH4	OMIM:108420
HP:0034345	Mendelian inheritance	2890	GRIA1	OMIM:619931
HP:0034345	Mendelian inheritance	9439	MED23	OMIM:614249
HP:0034345	Mendelian inheritance	4292	MLH1	OMIM:276300
HP:0034345	Mendelian inheritance	101929726	MYMX	OMIM:619941
HP:0034345	Mendelian inheritance	3034	HAL	OMIM:235800
HP:0034345	Mendelian inheritance	4254	KITLG	OMIM:619947
HP:0034345	Mendelian inheritance	158401	SHOC1	OMIM:619949
HP:0034345	Mendelian inheritance	57670	KIAA1549	OMIM:618613
HP:0034345	Mendelian inheritance	3651	PDX1	OMIM:260370
HP:0034345	Mendelian inheritance	7428	VHL	OMIM:263400
HP:0034345	Mendelian inheritance	26235	FBXL4	OMIM:615471
HP:0034345	Mendelian inheritance	125150	ZSWIM7	OMIM:619831
HP:0034345	Mendelian inheritance	125150	ZSWIM7	OMIM:619834
HP:0034345	Mendelian inheritance	23334	SZT2	OMIM:615476
HP:0034345	Mendelian inheritance	9254	CACNA2D2	OMIM:618501
HP:0034345	Mendelian inheritance	4897	NRCAM	OMIM:619833
HP:0034345	Mendelian inheritance	91801	ALKBH8	OMIM:618504
HP:0034345	Mendelian inheritance	54332	GDAP1	OMIM:607831
HP:0034345	Mendelian inheritance	54332	GDAP1	OMIM:214400
HP:0034345	Mendelian inheritance	54332	GDAP1	OMIM:608340
HP:0034345	Mendelian inheritance	54332	GDAP1	OMIM:607706
HP:0034345	Mendelian inheritance	56704	JPH1	OMIM:607831
HP:0034345	Mendelian inheritance	197131	UBR1	OMIM:243800
HP:0034345	Mendelian inheritance	89765	RSPH1	OMIM:615481
HP:0034345	Mendelian inheritance	161582	DNAAF4	OMIM:615482
HP:0034345	Mendelian inheritance	4210	MEFV	OMIM:249100
HP:0034345	Mendelian inheritance	8566	PDXK	OMIM:618511
HP:0034345	Mendelian inheritance	1841	DTYMK	OMIM:619847
HP:0034345	Mendelian inheritance	644	BLVRA	OMIM:614156
HP:0034345	Mendelian inheritance	84936	ZFYVE19	OMIM:619849
HP:0034345	Mendelian inheritance	318	NUDT2	OMIM:619844
HP:0034345	Mendelian inheritance	85015	USP45	OMIM:618513
HP:0034345	Mendelian inheritance	56259	CTNNBL1	OMIM:619846
HP:0034345	Mendelian inheritance	2188	FANCF	OMIM:603467
HP:0034345	Mendelian inheritance	4646	MYO6	OMIM:607821
HP:0034345	Mendelian inheritance	54345	SOX18	OMIM:607823
HP:0034345	Mendelian inheritance	288	ANK3	OMIM:615493
HP:0034345	Mendelian inheritance	23321	TRIM2	OMIM:615490
HP:0034345	Mendelian inheritance	7345	UCHL1	OMIM:615491
HP:0034345	Mendelian inheritance	2660	MSTN	OMIM:614160
HP:0034345	Mendelian inheritance	5105	PCK1	OMIM:261680
HP:0034345	Mendelian inheritance	2876	GPX1	OMIM:614164
HP:0034345	Mendelian inheritance	283652	SLC24A5	OMIM:113750
HP:0034345	Mendelian inheritance	1777	DNASE2	OMIM:619858
HP:0034345	Mendelian inheritance	10606	PAICS	OMIM:619859
HP:0034345	Mendelian inheritance	64359	NXN	OMIM:618529
HP:0034345	Mendelian inheritance	3572	IL6ST	OMIM:618523
HP:0034345	Mendelian inheritance	3572	IL6ST	OMIM:619751
HP:0034345	Mendelian inheritance	79140	CCDC28B	OMIM:209900
HP:0034345	Mendelian inheritance	582	BBS1	OMIM:209900
HP:0034345	Mendelian inheritance	10484	SEC23A	OMIM:607812
HP:0034345	Mendelian inheritance	79600	TCTN1	OMIM:614173
HP:0034345	Mendelian inheritance	10935	PRDX3	OMIM:619862
HP:0034345	Mendelian inheritance	11107	PRDM5	OMIM:614170
HP:0034345	Mendelian inheritance	26258	BLOC1S6	OMIM:614171
HP:0034345	Mendelian inheritance	1594	CYP27B1	OMIM:264700
HP:0034345	Mendelian inheritance	5224	PGAM2	OMIM:261670
HP:0034345	Mendelian inheritance	80776	B9D2	OMIM:614175
HP:0034345	Mendelian inheritance	8550	MAPKAPK5	OMIM:619869
HP:0034345	Mendelian inheritance	168507	PKD1L1	OMIM:617205
HP:0034345	Mendelian inheritance	1201	CLN3	OMIM:204200
HP:0034345	Mendelian inheritance	10125	RASGRP1	OMIM:618534
HP:0034345	Mendelian inheritance	1474	CST6	OMIM:618535
HP:0034345	Mendelian inheritance	126410	CYP4F22	OMIM:604777
HP:0034345	Mendelian inheritance	4117	MAK	OMIM:614181
HP:0034345	Mendelian inheritance	8482	SEMA7A	OMIM:619874
HP:0034345	Mendelian inheritance	23729	SHPK	OMIM:617213
HP:0034345	Mendelian inheritance	3590	IL11RA	OMIM:614188
HP:0034345	Mendelian inheritance	3769	KCNJ13	OMIM:614186
HP:0034345	Mendelian inheritance	8111	GPR68	OMIM:617217
HP:0034345	Mendelian inheritance	10068	IL18BP	OMIM:618549
HP:0034345	Mendelian inheritance	4261	CIITA	OMIM:209920
HP:0034345	Mendelian inheritance	5994	RFXAP	OMIM:209920
HP:0034345	Mendelian inheritance	5993	RFX5	OMIM:209920
HP:0034345	Mendelian inheritance	8625	RFXANK	OMIM:209920
HP:0034345	Mendelian inheritance	89869	PLCZ1	OMIM:617214
HP:0034345	Mendelian inheritance	51692	CPSF3	OMIM:619876
HP:0034345	Mendelian inheritance	6897	TARS1	OMIM:618546
HP:0034345	Mendelian inheritance	116115	ZNF526	OMIM:619877
HP:0034345	Mendelian inheritance	54456	MOV10L1	OMIM:619878
HP:0034345	Mendelian inheritance	79770	TXNDC15	OMIM:619879
HP:0034345	Mendelian inheritance	9091	PIGQ	OMIM:618548
HP:0034345	Mendelian inheritance	6329	SCN4A	OMIM:614198
HP:0034345	Mendelian inheritance	27068	PPA2	OMIM:617223
HP:0034345	Mendelian inheritance	27068	PPA2	OMIM:617222
HP:0034345	Mendelian inheritance	5800	PTPRO	OMIM:614196
HP:0034345	Mendelian inheritance	10991	SLC38A3	OMIM:619881
HP:0034345	Mendelian inheritance	4285	MIPEP	OMIM:617228
HP:0034345	Mendelian inheritance	641	BLM	OMIM:210900
HP:0034345	Mendelian inheritance	2674	GFRA1	OMIM:619887
HP:0034345	Mendelian inheritance	23007	PLCH1	OMIM:619895
HP:0034345	Mendelian inheritance	442721	LMOD2	OMIM:619897
HP:0034345	Mendelian inheritance	353238	PADI6	OMIM:617234
HP:0034345	Mendelian inheritance	56983	POGLUT1	OMIM:617232
HP:0034345	Mendelian inheritance	6572	SLC18A3	OMIM:617239
HP:0034345	Mendelian inheritance	84131	CEP78	OMIM:617236
HP:0034345	Mendelian inheritance	29960	MRM2	OMIM:618567
HP:0034345	Mendelian inheritance	374969	SVBP	OMIM:618569
HP:0034345	Mendelian inheritance	2184	FAH	OMIM:276700
HP:0034345	Mendelian inheritance	845	CASQ2	OMIM:611938
HP:0034345	Mendelian inheritance	6476	SI	OMIM:222900
HP:0034345	Mendelian inheritance	56160	NSMCE3	OMIM:617241
HP:0034345	Mendelian inheritance	26173	INTS1	OMIM:618571
HP:0034345	Mendelian inheritance	55656	INTS8	OMIM:618572
HP:0034345	Mendelian inheritance	10459	MAD2L2	OMIM:617243
HP:0034345	Mendelian inheritance	7201	TRHR	OMIM:618573
HP:0034345	Mendelian inheritance	27429	HTRA2	OMIM:617248
HP:0034345	Mendelian inheritance	5081	PAX7	OMIM:618578
HP:0034345	Mendelian inheritance	3242	HPD	OMIM:276710
HP:0034345	Mendelian inheritance	165918	RNF168	OMIM:611943
HP:0034345	Mendelian inheritance	343035	RD3	OMIM:610612
HP:0034345	Mendelian inheritance	410	ARSA	OMIM:250100
HP:0034345	Mendelian inheritance	3321	IGSF3	OMIM:149700
HP:0034345	Mendelian inheritance	9361	LONP1	OMIM:600373
HP:0034345	Mendelian inheritance	9488	PIGB	OMIM:618580
HP:0034345	Mendelian inheritance	2243	FGA	OMIM:202400
HP:0034345	Mendelian inheritance	2244	FGB	OMIM:202400
HP:0034345	Mendelian inheritance	2266	FGG	OMIM:202400
HP:0034345	Mendelian inheritance	286053	NSMCE2	OMIM:617253
HP:0034345	Mendelian inheritance	7062	TCHH	OMIM:617252
HP:0034345	Mendelian inheritance	7053	TGM3	OMIM:617251
HP:0034345	Mendelian inheritance	160418	TMTC3	OMIM:617255
HP:0034345	Mendelian inheritance	79912	PYROXD1	OMIM:617258
HP:0034345	Mendelian inheritance	4967	OGDH	OMIM:203740
HP:0034345	Mendelian inheritance	5309	PITX3	OMIM:610623
HP:0034345	Mendelian inheritance	2161	F12	OMIM:234000
HP:0034345	Mendelian inheritance	128869	PIGU	OMIM:618590
HP:0034345	Mendelian inheritance	10677	AVIL	OMIM:618594
HP:0034345	Mendelian inheritance	5053	PAH	OMIM:261600
HP:0034345	Mendelian inheritance	427	ASAH1	OMIM:159950
HP:0034345	Mendelian inheritance	427	ASAH1	OMIM:228000
HP:0034345	Mendelian inheritance	23005	MAPKBP1	OMIM:617271
HP:0034345	Mendelian inheritance	55250	ELP2	OMIM:617270
HP:0034345	Mendelian inheritance	6777	STAT5B	OMIM:245590
HP:0034345	Mendelian inheritance	4998	ORC1	OMIM:224690
HP:0034345	Mendelian inheritance	1621	DBH	OMIM:223360
HP:0034345	Mendelian inheritance	8120	AP3B2	OMIM:617276
HP:0034345	Mendelian inheritance	284654	RSPO1	OMIM:610644
HP:0034345	Mendelian inheritance	549	AUH	OMIM:250950
HP:0034345	Mendelian inheritance	1009	CDH11	OMIM:211380
HP:0034345	Mendelian inheritance	6821	SUOX	OMIM:272300
HP:0034345	Mendelian inheritance	51102	MECR	OMIM:617282
HP:0034345	Mendelian inheritance	6557	SLC12A1	OMIM:601678
HP:0034345	Mendelian inheritance	23258	DENND5A	OMIM:617281
HP:0034345	Mendelian inheritance	2009	EML1	OMIM:600348
HP:0034345	Mendelian inheritance	55630	SLC39A4	OMIM:201100
HP:0034345	Mendelian inheritance	38	ACAT1	OMIM:203750
HP:0034345	Mendelian inheritance	4548	MTR	OMIM:250940
HP:0034345	Mendelian inheritance	4548	MTR	OMIM:601634
HP:0034345	Mendelian inheritance	154	ADRB2	OMIM:601665
HP:0034345	Mendelian inheritance	155	ADRB3	OMIM:601665
HP:0034345	Mendelian inheritance	7352	UCP3	OMIM:601665
HP:0034345	Mendelian inheritance	8431	NR0B2	OMIM:601665
HP:0034345	Mendelian inheritance	9607	CARTPT	OMIM:601665
HP:0034345	Mendelian inheritance	51738	GHRL	OMIM:601665
HP:0034345	Mendelian inheritance	5468	PPARG	OMIM:601665
HP:0034345	Mendelian inheritance	9672	SDC3	OMIM:601665
HP:0034345	Mendelian inheritance	181	AGRP	OMIM:601665
HP:0034345	Mendelian inheritance	11212	PLPBP	OMIM:617290
HP:0034345	Mendelian inheritance	93650	ACP4	OMIM:617297
HP:0034345	Mendelian inheritance	1285	COL4A3	OMIM:203780
HP:0034345	Mendelian inheritance	1286	COL4A4	OMIM:203780
HP:0034345	Mendelian inheritance	405753	DUOXA2	OMIM:274900
HP:0034345	Mendelian inheritance	136647	MPLKIP	OMIM:234050
HP:0034345	Mendelian inheritance	11322	TMC6	OMIM:226400
HP:0034345	Mendelian inheritance	4716	NDUFB10	OMIM:619003
HP:0034345	Mendelian inheritance	8567	MADD	OMIM:619004
HP:0034345	Mendelian inheritance	8567	MADD	OMIM:619005
HP:0034345	Mendelian inheritance	5106	PCK2	OMIM:261650
HP:0034345	Mendelian inheritance	3419	IDH3A	OMIM:619007
HP:0034345	Mendelian inheritance	343637	RSPO4	OMIM:206800
HP:0034345	Mendelian inheritance	54766	BTG4	OMIM:619009
HP:0034345	Mendelian inheritance	7284	TUFM	OMIM:610678
HP:0034345	Mendelian inheritance	26278	SACS	OMIM:270550
HP:0034345	Mendelian inheritance	5805	PTS	OMIM:261640
HP:0034345	Mendelian inheritance	51168	MYO15A	OMIM:600316
HP:0034345	Mendelian inheritance	63899	NSUN3	OMIM:619012
HP:0034345	Mendelian inheritance	2193	FARSA	OMIM:619013
HP:0034345	Mendelian inheritance	10491	CRTAP	OMIM:610682
HP:0034345	Mendelian inheritance	203190	LGI3	OMIM:620007
HP:0034345	Mendelian inheritance	5557	PRIM1	OMIM:620005
HP:0034345	Mendelian inheritance	1073	CFL2	OMIM:610687
HP:0034345	Mendelian inheritance	84081	NSRP1	OMIM:620001
HP:0034345	Mendelian inheritance	253827	MSRB3	OMIM:613718
HP:0034345	Mendelian inheritance	219844	HYLS1	OMIM:236680
HP:0034345	Mendelian inheritance	51082	POLR1D	OMIM:613717
HP:0034345	Mendelian inheritance	4644	MYO5A	OMIM:214450
HP:0034345	Mendelian inheritance	64432	MRPS25	OMIM:619025
HP:0034345	Mendelian inheritance	84842	HPDL	OMIM:619026
HP:0034345	Mendelian inheritance	84842	HPDL	OMIM:619027
HP:0034345	Mendelian inheritance	5860	QDPR	OMIM:261630
HP:0034345	Mendelian inheritance	84274	COQ5	OMIM:619028
HP:0034345	Mendelian inheritance	25793	FBXO7	OMIM:260300
HP:0034345	Mendelian inheritance	125170	MIEF2	OMIM:619024
HP:0034345	Mendelian inheritance	23236	PLCB1	OMIM:613722
HP:0034345	Mendelian inheritance	29969	MDFIC	OMIM:620014
HP:0034345	Mendelian inheritance	6342	SCP2	OMIM:613724
HP:0034345	Mendelian inheritance	3082	HGF	OMIM:608265
HP:0034345	Mendelian inheritance	55129	ANO10	OMIM:613728
HP:0034345	Mendelian inheritance	65055	REEP1	OMIM:620011
HP:0034345	Mendelian inheritance	50964	SOST	OMIM:269500
HP:0034345	Mendelian inheritance	5784	PTPN14	OMIM:613611
HP:0034345	Mendelian inheritance	57539	WDR35	OMIM:613610
HP:0034345	Mendelian inheritance	57539	WDR35	OMIM:614091
HP:0034345	Mendelian inheritance	283310	OTOGL	OMIM:614944
HP:0034345	Mendelian inheritance	10466	COG5	OMIM:613612
HP:0034345	Mendelian inheritance	130557	ZNF513	OMIM:613617
HP:0034345	Mendelian inheritance	340990	OTOG	OMIM:614945
HP:0034345	Mendelian inheritance	112817	HOGA1	OMIM:613616
HP:0034345	Mendelian inheritance	2542	SLC37A4	OMIM:232220
HP:0034345	Mendelian inheritance	2542	SLC37A4	OMIM:232240
HP:0034345	Mendelian inheritance	146183	OTOA	OMIM:607039
HP:0034345	Mendelian inheritance	768206	PRCD	OMIM:610599
HP:0034345	Mendelian inheritance	90411	MCFD2	OMIM:613625
HP:0034345	Mendelian inheritance	79048	SECISBP2	OMIM:609698
HP:0034345	Mendelian inheritance	6439	SFTPB	OMIM:265120
HP:0034345	Mendelian inheritance	5119	CHMP1A	OMIM:614961
HP:0034345	Mendelian inheritance	3952	LEP	OMIM:614962
HP:0034345	Mendelian inheritance	966	CD59	OMIM:612300
HP:0034345	Mendelian inheritance	2538	G6PC1	OMIM:232200
HP:0034345	Mendelian inheritance	8792	TNFRSF11A	OMIM:612301
HP:0034345	Mendelian inheritance	3953	LEPR	OMIM:614963
HP:0034345	Mendelian inheritance	5624	PROC	OMIM:612304
HP:0034345	Mendelian inheritance	114034	TOE1	OMIM:614969
HP:0034345	Mendelian inheritance	79583	TMEM231	OMIM:614970
HP:0034345	Mendelian inheritance	79583	TMEM231	OMIM:615397
HP:0034345	Mendelian inheritance	1954	MEGF8	OMIM:614976
HP:0034345	Mendelian inheritance	340665	CYP26C1	OMIM:614974
HP:0034345	Mendelian inheritance	51293	CD320	OMIM:613646
HP:0034345	Mendelian inheritance	3425	IDUA	OMIM:607014
HP:0034345	Mendelian inheritance	3425	IDUA	OMIM:607016
HP:0034345	Mendelian inheritance	3425	IDUA	OMIM:607015
HP:0034345	Mendelian inheritance	9907	AP5Z1	OMIM:613647
HP:0034345	Mendelian inheritance	79152	FA2H	OMIM:612319
HP:0034345	Mendelian inheritance	5002	SLC22A18	OMIM:268210
HP:0034345	Mendelian inheritance	1629	DBT	OMIM:248600
HP:0034345	Mendelian inheritance	593	BCKDHA	OMIM:248600
HP:0034345	Mendelian inheritance	594	BCKDHB	OMIM:248600
HP:0034345	Mendelian inheritance	8456	FOXN1	OMIM:601705
HP:0034345	Mendelian inheritance	712	C1QA	OMIM:613652
HP:0034345	Mendelian inheritance	10056	FARSB	OMIM:613658
HP:0034345	Mendelian inheritance	54499	TMCO1	OMIM:213980
HP:0034345	Mendelian inheritance	23175	LPIN1	OMIM:268200
HP:0034345	Mendelian inheritance	92211	CDHR1	OMIM:613660
HP:0034345	Mendelian inheritance	440138	ALG11	OMIM:613661
HP:0034345	Mendelian inheritance	9440	MED17	OMIM:613668
HP:0034345	Mendelian inheritance	286676	ILDR1	OMIM:609646
HP:0034345	Mendelian inheritance	2707	GJB3	OMIM:220290
HP:0034345	Mendelian inheritance	2707	GJB3	OMIM:133200
HP:0034345	Mendelian inheritance	55084	SOBP	OMIM:613671
HP:0034345	Mendelian inheritance	55149	MTPAP	OMIM:613672
HP:0034345	Mendelian inheritance	440193	CCDC88C	OMIM:236600
HP:0034345	Mendelian inheritance	2147	F2	OMIM:613679
HP:0034345	Mendelian inheritance	3753	KCNE1	OMIM:612347
HP:0034345	Mendelian inheritance	445	ASS1	OMIM:215700
HP:0034345	Mendelian inheritance	4942	OAT	OMIM:258870
HP:0034345	Mendelian inheritance	4233	MET	OMIM:616705
HP:0034345	Mendelian inheritance	22856	CHSY1	OMIM:605282
HP:0034345	Mendelian inheritance	79228	THOC6	OMIM:613680
HP:0034345	Mendelian inheritance	91252	SLC39A13	OMIM:612350
HP:0034345	Mendelian inheritance	5962	RDX	OMIM:611022
HP:0034345	Mendelian inheritance	84667	HES7	OMIM:613686
HP:0034345	Mendelian inheritance	57410	SCYL1	OMIM:616719
HP:0034345	Mendelian inheritance	8216	LZTR1	OMIM:605275
HP:0034345	Mendelian inheritance	9663	LPIN2	OMIM:609628
HP:0034345	Mendelian inheritance	64116	SLC39A8	OMIM:616721
HP:0034345	Mendelian inheritance	1305	COL13A1	OMIM:616720
HP:0034345	Mendelian inheritance	2622	GAS8	OMIM:616726
HP:0034345	Mendelian inheritance	30062	RAX	OMIM:611038
HP:0034345	Mendelian inheritance	6948	TCN2	OMIM:275350
HP:0034345	Mendelian inheritance	89970	RSPRY1	OMIM:616723
HP:0034345	Mendelian inheritance	3621	ING1	OMIM:275355
HP:0034345	Mendelian inheritance	8795	TNFRSF10B	OMIM:275355
HP:0034345	Mendelian inheritance	3981	LIG4	OMIM:606593
HP:0034345	Mendelian inheritance	669	BPGM	OMIM:222800
HP:0034345	Mendelian inheritance	57379	AICDA	OMIM:605258
HP:0034345	Mendelian inheritance	83552	MFRP	OMIM:611040
HP:0034345	Mendelian inheritance	83552	MFRP	OMIM:609549
HP:0034345	Mendelian inheritance	10229	COQ7	OMIM:616733
HP:0034345	Mendelian inheritance	11151	CORO1A	OMIM:615401
HP:0034345	Mendelian inheritance	440275	EIF2AK4	OMIM:234810
HP:0034345	Mendelian inheritance	84816	RTN4IP1	OMIM:616732
HP:0034345	Mendelian inheritance	6900	CNTN2	OMIM:615400
HP:0034345	Mendelian inheritance	3176	HNMT	OMIM:616739
HP:0034345	Mendelian inheritance	2729	GCLC	OMIM:230450
HP:0034345	Mendelian inheritance	7037	TFRC	OMIM:616740
HP:0034345	Mendelian inheritance	2657	GDF1	OMIM:208530
HP:0034345	Mendelian inheritance	80746	TSEN2	OMIM:612389
HP:0034345	Mendelian inheritance	1911	PHC1	OMIM:615414
HP:0034345	Mendelian inheritance	51151	SLC45A2	OMIM:606574
HP:0034345	Mendelian inheritance	291	SLC25A4	OMIM:615418
HP:0034345	Mendelian inheritance	118856	MMP21	OMIM:616749
HP:0034345	Mendelian inheritance	259232	NALCN	OMIM:615419
HP:0034345	Mendelian inheritance	79042	TSEN34	OMIM:612390
HP:0034345	Mendelian inheritance	8985	PLOD3	OMIM:612394
HP:0034345	Mendelian inheritance	57449	PLEKHG5	OMIM:611067
HP:0034345	Mendelian inheritance	57449	PLEKHG5	OMIM:615376
HP:0034345	Mendelian inheritance	57531	HACE1	OMIM:616756
HP:0034345	Mendelian inheritance	84173	ELMOD3	OMIM:615429
HP:0034345	Mendelian inheritance	10568	SLC34A2	OMIM:265100
HP:0034345	Mendelian inheritance	1589	CYP21A2	OMIM:201910
HP:0034345	Mendelian inheritance	4043	LRPAP1	OMIM:615431
HP:0034345	Mendelian inheritance	147183	KRT25	OMIM:616760
HP:0034345	Mendelian inheritance	5732	PTGER2	OMIM:208550
HP:0034345	Mendelian inheritance	23568	ARL2BP	OMIM:615434
HP:0034345	Mendelian inheritance	64857	PLEKHG2	OMIM:616763
HP:0034345	Mendelian inheritance	3514	IGKC	OMIM:614102
HP:0034345	Mendelian inheritance	51520	LARS1	OMIM:615438
HP:0034345	Mendelian inheritance	4329	ALDH6A1	OMIM:614105
HP:0034345	Mendelian inheritance	80781	COL18A1	OMIM:267750
HP:0034345	Mendelian inheritance	10345	TRDN	OMIM:615441
HP:0034345	Mendelian inheritance	5162	PDHB	OMIM:614111
HP:0034345	Mendelian inheritance	60528	ELAC2	OMIM:615440
HP:0034345	Mendelian inheritance	10293	TRAIP	OMIM:616777
HP:0034345	Mendelian inheritance	9702	CEP57	OMIM:614114
HP:0034345	Mendelian inheritance	92335	STRADA	OMIM:611087
HP:0034345	Mendelian inheritance	84660	CCDC62	OMIM:619803
HP:0034345	Mendelian inheritance	10319	LAMC3	OMIM:614115
HP:0034345	Mendelian inheritance	51364	ZMYND10	OMIM:615444
HP:0034345	Mendelian inheritance	5294	PIK3CG	OMIM:619802
HP:0034345	Mendelian inheritance	9897	WASHC5	OMIM:220210
HP:0034345	Mendelian inheritance	347688	TUBB8	OMIM:616780
HP:0034345	Mendelian inheritance	54888	NSUN2	OMIM:611091
HP:0034345	Mendelian inheritance	2898	GRIK2	OMIM:611092
HP:0034345	Mendelian inheritance	7991	TUSC3	OMIM:611093
HP:0034345	Mendelian inheritance	23247	KATNIP	OMIM:616784
HP:0034345	Mendelian inheritance	1537	CYC1	OMIM:615453
HP:0034345	Mendelian inheritance	55130	ODAD2	OMIM:615451
HP:0034345	Mendelian inheritance	3655	ITGA6	OMIM:619817
HP:0034345	Mendelian inheritance	8192	CLPP	OMIM:614129
HP:0034345	Mendelian inheritance	170692	ADAMTS18	OMIM:615458
HP:0034345	Mendelian inheritance	9939	RBM8A	OMIM:274000
HP:0034345	Mendelian inheritance	115286	SLC25A26	OMIM:616794
HP:0034345	Mendelian inheritance	4643	MYO1E	OMIM:614131
HP:0034345	Mendelian inheritance	10892	MALT1	OMIM:615468
HP:0034345	Mendelian inheritance	199720	GGN	OMIM:619826
HP:0034345	Mendelian inheritance	1297	COL9A1	OMIM:614134
HP:0034345	Mendelian inheritance	55367	PIDD1	OMIM:619827
HP:0034345	Mendelian inheritance	5161	PDHA2	OMIM:619828
HP:0034345	Mendelian inheritance	6929	TCF3	OMIM:619824
HP:0034345	Mendelian inheritance	23141	ANKLE2	OMIM:616681
HP:0034345	Mendelian inheritance	4099	MAG	OMIM:616680
HP:0034345	Mendelian inheritance	29925	GMPPB	OMIM:615350
HP:0034345	Mendelian inheritance	29925	GMPPB	OMIM:615351
HP:0034345	Mendelian inheritance	29925	GMPPB	OMIM:615352
HP:0034345	Mendelian inheritance	5723	PSPH	OMIM:614023
HP:0034345	Mendelian inheritance	9524	TECR	OMIM:614020
HP:0034345	Mendelian inheritance	2132	EXT2	OMIM:616682
HP:0034345	Mendelian inheritance	253017	TECRL	OMIM:614021
HP:0034345	Mendelian inheritance	51126	NAA20	OMIM:619717
HP:0034345	Mendelian inheritance	3990	LIPC	OMIM:614025
HP:0034345	Mendelian inheritance	60684	TRAPPC11	OMIM:615356
HP:0034345	Mendelian inheritance	19	ABCA1	OMIM:205400
HP:0034345	Mendelian inheritance	144132	DNHD1	OMIM:619712
HP:0034345	Mendelian inheritance	6898	TAT	OMIM:276600
HP:0034345	Mendelian inheritance	84942	WDR73	OMIM:251300
HP:0034345	Mendelian inheritance	10060	ABCC9	OMIM:619719
HP:0034345	Mendelian inheritance	3891	KRT85	OMIM:602032
HP:0034345	Mendelian inheritance	3973	LHCGR	OMIM:238320
HP:0034345	Mendelian inheritance	392255	GDF6	OMIM:615360
HP:0034345	Mendelian inheritance	6716	SRD5A2	OMIM:264600
HP:0034345	Mendelian inheritance	3162	HMOX1	OMIM:614034
HP:0034345	Mendelian inheritance	8722	CTSF	OMIM:615362
HP:0034345	Mendelian inheritance	5322	PLA2G5	OMIM:228980
HP:0034345	Mendelian inheritance	2099	ESR1	OMIM:615363
HP:0034345	Mendelian inheritance	2175	FANCA	OMIM:227650
HP:0034345	Mendelian inheritance	4056	LTC4S	OMIM:614037
HP:0034345	Mendelian inheritance	1785	DNM2	OMIM:615368
HP:0034345	Mendelian inheritance	79639	TMEM53	OMIM:619727
HP:0034345	Mendelian inheritance	23562	CLDN14	OMIM:614035
HP:0034345	Mendelian inheritance	140803	TRPM6	OMIM:602014
HP:0034345	Mendelian inheritance	84572	GNPTG	OMIM:252605
HP:0034345	Mendelian inheritance	196527	ANO6	OMIM:262890
HP:0034345	Mendelian inheritance	9364	RAB28	OMIM:615374
HP:0034345	Mendelian inheritance	9692	PRORP	OMIM:619737
HP:0034345	Mendelian inheritance	4160	MC4R	OMIM:618406
HP:0034345	Mendelian inheritance	51319	RSRC1	OMIM:618402
HP:0034345	Mendelian inheritance	7920	ABHD16A	OMIM:619735
HP:0034345	Mendelian inheritance	8560	DEGS1	OMIM:618404
HP:0034345	Mendelian inheritance	4323	MMP14	OMIM:277950
HP:0034345	Mendelian inheritance	203286	ANKS6	OMIM:615382
HP:0034345	Mendelian inheritance	54968	TMEM70	OMIM:614052
HP:0034345	Mendelian inheritance	388551	CEACAM16	OMIM:618410
HP:0034345	Mendelian inheritance	5442	POLRMT	OMIM:619743
HP:0034345	Mendelian inheritance	6712	SPTBN2	OMIM:615386
HP:0034345	Mendelian inheritance	28755	TRAC	OMIM:615387
HP:0034345	Mendelian inheritance	514	ATP5F1E	OMIM:614053
HP:0034345	Mendelian inheritance	269	AMHR2	OMIM:261550
HP:0034345	Mendelian inheritance	268	AMH	OMIM:261550
HP:0034345	Mendelian inheritance	55012	PPP2R3C	OMIM:618419
HP:0034345	Mendelian inheritance	4632	MYL1	OMIM:618414
HP:0034345	Mendelian inheritance	200734	SPRED2	OMIM:619745
HP:0034345	Mendelian inheritance	23268	DNMBP	OMIM:618415
HP:0034345	Mendelian inheritance	284439	SLC25A42	OMIM:618416
HP:0034345	Mendelian inheritance	9529	BAG5	OMIM:619747
HP:0034345	Mendelian inheritance	339983	NAT8L	OMIM:614063
HP:0034345	Mendelian inheritance	23262	PPIP5K2	OMIM:618422
HP:0034345	Mendelian inheritance	10717	AP4B1	OMIM:614066
HP:0034345	Mendelian inheritance	51604	PIGT	OMIM:615398
HP:0034345	Mendelian inheritance	11154	AP4S1	OMIM:614067
HP:0034345	Mendelian inheritance	65080	MRPL44	OMIM:615395
HP:0034345	Mendelian inheritance	199223	TTC21A	OMIM:618429
HP:0034345	Mendelian inheritance	9841	ZBTB24	OMIM:614069
HP:0034345	Mendelian inheritance	4808	NHLH2	OMIM:619755
HP:0034345	Mendelian inheritance	2592	GALT	OMIM:230400
HP:0034345	Mendelian inheritance	7701	ZNF142	OMIM:618425
HP:0034345	Mendelian inheritance	8021	NUP214	OMIM:618426
HP:0034345	Mendelian inheritance	1180	CLCN1	OMIM:255700
HP:0034345	Mendelian inheritance	285362	SUMF1	OMIM:272200
HP:0034345	Mendelian inheritance	89781	HPS4	OMIM:614073
HP:0034345	Mendelian inheritance	150365	MEI1	OMIM:618431
HP:0034345	Mendelian inheritance	11234	HPS5	OMIM:614074
HP:0034345	Mendelian inheritance	79703	TOP6BL	OMIM:618432
HP:0034345	Mendelian inheritance	84071	ARMC2	OMIM:618433
HP:0034345	Mendelian inheritance	84343	HPS3	OMIM:614072
HP:0034345	Mendelian inheritance	388552	BLOC1S3	OMIM:614077
HP:0034345	Mendelian inheritance	54928	BPNT2	OMIM:614078
HP:0034345	Mendelian inheritance	51098	IFT52	OMIM:617102
HP:0034345	Mendelian inheritance	79803	HPS6	OMIM:614075
HP:0034345	Mendelian inheritance	84062	DTNBP1	OMIM:614076
HP:0034345	Mendelian inheritance	4437	MSH3	OMIM:617100
HP:0034345	Mendelian inheritance	9158	FIBP	OMIM:617107
HP:0034345	Mendelian inheritance	25973	PARS2	OMIM:618437
HP:0034345	Mendelian inheritance	11261	CHP1	OMIM:618438
HP:0034345	Mendelian inheritance	540	ATP7B	OMIM:277900
HP:0034345	Mendelian inheritance	2035	EPB41	OMIM:611804
HP:0034345	Mendelian inheritance	7439	BEST1	OMIM:611809
HP:0034345	Mendelian inheritance	2651	GCNT2	OMIM:116700
HP:0034345	Mendelian inheritance	23556	PIGN	OMIM:614080
HP:0034345	Mendelian inheritance	64135	IFIH1	OMIM:619773
HP:0034345	Mendelian inheritance	3978	LIG1	OMIM:619774
HP:0034345	Mendelian inheritance	4123	MAN2C1	OMIM:619775
HP:0034345	Mendelian inheritance	55120	FANCL	OMIM:614083
HP:0034345	Mendelian inheritance	339855	KY	OMIM:617114
HP:0034345	Mendelian inheritance	5286	PIK3C2A	OMIM:618440
HP:0034345	Mendelian inheritance	5818	NECTIN1	OMIM:225060
HP:0034345	Mendelian inheritance	5271	SERPINB8	OMIM:617115
HP:0034345	Mendelian inheritance	246176	GAS2L2	OMIM:618449
HP:0034345	Mendelian inheritance	54361	WNT4	OMIM:611812
HP:0034345	Mendelian inheritance	57192	MCOLN1	OMIM:252650
HP:0034345	Mendelian inheritance	79628	SH3TC2	OMIM:601596
HP:0034345	Mendelian inheritance	81704	DOCK8	OMIM:243700
HP:0034345	Mendelian inheritance	26100	WIPI2	OMIM:618453
HP:0034345	Mendelian inheritance	10750	GRAP	OMIM:618456
HP:0034345	Mendelian inheritance	1308	COL17A1	OMIM:619787
HP:0034345	Mendelian inheritance	79882	ZC3H14	OMIM:617125
HP:0034345	Mendelian inheritance	3980	LIG3	OMIM:619780
HP:0034345	Mendelian inheritance	84695	LOXL3	OMIM:619781
HP:0034345	Mendelian inheritance	847	CAT	OMIM:614097
HP:0034345	Mendelian inheritance	3658	IREB2	OMIM:618451
HP:0034345	Mendelian inheritance	6878	TAF6	OMIM:617126
HP:0034345	Mendelian inheritance	124976	SPNS2	OMIM:618457
HP:0034345	Mendelian inheritance	29127	RACGAP1	OMIM:619789
HP:0034345	Mendelian inheritance	9138	ARHGEF1	OMIM:618459
HP:0034345	Mendelian inheritance	79876	UBA5	OMIM:617132
HP:0034345	Mendelian inheritance	79876	UBA5	OMIM:617133
HP:0034345	Mendelian inheritance	79879	CCDC134	OMIM:619795
HP:0034345	Mendelian inheritance	8288	EPX	OMIM:261500
HP:0034345	Mendelian inheritance	54892	NCAPG2	OMIM:618460
HP:0034345	Mendelian inheritance	2048	EPHB2	OMIM:618462
HP:0034345	Mendelian inheritance	335	APOA1	OMIM:618463
HP:0034345	Mendelian inheritance	51412	ACTL6B	OMIM:618468
HP:0034345	Mendelian inheritance	11055	ZPBP	OMIM:619799
HP:0034345	Mendelian inheritance	4621	MYH3	OMIM:618469
HP:0034345	Mendelian inheritance	3875	KRT18	OMIM:215600
HP:0034345	Mendelian inheritance	4143	MAT1A	OMIM:250850
HP:0034345	Mendelian inheritance	10102	TSFM	OMIM:610505
HP:0034345	Mendelian inheritance	60482	SLC5A7	OMIM:617143
HP:0034345	Mendelian inheritance	1436	CSF1R	OMIM:618476
HP:0034345	Mendelian inheritance	9154	SLC28A1	OMIM:618477
HP:0034345	Mendelian inheritance	63895	PIEZO2	OMIM:617146
HP:0034345	Mendelian inheritance	8878	SQSTM1	OMIM:617145
HP:0034345	Mendelian inheritance	4081	MAB21L1	OMIM:618479
HP:0034345	Mendelian inheritance	1725	DHPS	OMIM:618480
HP:0034345	Mendelian inheritance	124842	TMEM132E	OMIM:618481
HP:0034345	Mendelian inheritance	2159	F10	OMIM:227600
HP:0034345	Mendelian inheritance	4125	MAN2B1	OMIM:248500
HP:0034345	Mendelian inheritance	54496	PRMT7	OMIM:617157
HP:0034345	Mendelian inheritance	7019	TFAM	OMIM:617156
HP:0034345	Mendelian inheritance	444	ASPH	OMIM:601552
HP:0034345	Mendelian inheritance	3158	HMGCS2	OMIM:605911
HP:0034345	Mendelian inheritance	1781	DYNC1I2	OMIM:618492
HP:0034345	Mendelian inheritance	774	CACNA1B	OMIM:618497
HP:0034345	Mendelian inheritance	285600	KIAA0825	OMIM:618498
HP:0034345	Mendelian inheritance	3977	LIFR	OMIM:601559
HP:0034345	Mendelian inheritance	54681	P4HTM	OMIM:618493
HP:0034345	Mendelian inheritance	4126	MANBA	OMIM:248510
HP:0034345	Mendelian inheritance	3560	IL2RB	OMIM:618495
HP:0034345	Mendelian inheritance	84668	HYCC1	OMIM:610532
HP:0034345	Mendelian inheritance	6690	SPINK1	OMIM:608189
HP:0034345	Mendelian inheritance	650	BMP2	OMIM:235200
HP:0034345	Mendelian inheritance	10522	DEAF1	OMIM:617171
HP:0034345	Mendelian inheritance	4882	NPR2	OMIM:602875
HP:0034345	Mendelian inheritance	2998	GYS2	OMIM:240600
HP:0034345	Mendelian inheritance	55213	RCBTB1	OMIM:617175
HP:0034345	Mendelian inheritance	65018	PINK1	OMIM:605909
HP:0034345	Mendelian inheritance	6424	SFRP4	OMIM:265900
HP:0034345	Mendelian inheritance	10681	GNB5	OMIM:617173
HP:0034345	Mendelian inheritance	10681	GNB5	OMIM:617182
HP:0034345	Mendelian inheritance	145173	B3GLCT	OMIM:261540
HP:0034345	Mendelian inheritance	10653	SPINT2	OMIM:270420
HP:0034345	Mendelian inheritance	140732	SUN5	OMIM:617187
HP:0034345	Mendelian inheritance	128240	NAXE	OMIM:617186
HP:0034345	Mendelian inheritance	3198	HOXA1	OMIM:601536
HP:0034345	Mendelian inheritance	51715	RAB23	OMIM:201000
HP:0034345	Mendelian inheritance	79143	MBOAT7	OMIM:617188
HP:0034345	Mendelian inheritance	7137	TNNI3	OMIM:611880
HP:0034345	Mendelian inheritance	197	AHSG	OMIM:203650
HP:0034345	Mendelian inheritance	226	ALDOA	OMIM:611881
HP:0034345	Mendelian inheritance	81622	UNC93B1	OMIM:610551
HP:0034345	Mendelian inheritance	8701	DNAH11	OMIM:611884
HP:0034345	Mendelian inheritance	4604	MYBPC1	OMIM:614915
HP:0034345	Mendelian inheritance	4222	MEOX1	OMIM:214300
HP:0034345	Mendelian inheritance	342035	GLDN	OMIM:617194
HP:0034345	Mendelian inheritance	6904	TBCD	OMIM:617193
HP:0034345	Mendelian inheritance	2177	FANCD2	OMIM:227646
HP:0034345	Mendelian inheritance	5345	SERPINF2	OMIM:262850
HP:0034345	Mendelian inheritance	2176	FANCC	OMIM:227645
HP:0034345	Mendelian inheritance	5236	PGM1	OMIM:614921
HP:0034345	Mendelian inheritance	55005	RMND1	OMIM:614922
HP:0034345	Mendelian inheritance	8799	PEX11B	OMIM:614920
HP:0034345	Mendelian inheritance	3295	HSD17B4	OMIM:261515
HP:0034345	Mendelian inheritance	3295	HSD17B4	OMIM:233400
HP:0034345	Mendelian inheritance	23438	HARS2	OMIM:614926
HP:0034345	Mendelian inheritance	124454	EARS2	OMIM:614924
HP:0034345	Mendelian inheritance	121391	KRT74	OMIM:614929
HP:0034345	Mendelian inheritance	55074	OXR1	OMIM:213000
HP:0034345	Mendelian inheritance	389434	IYD	OMIM:274800
HP:0034345	Mendelian inheritance	3827	KNG1	OMIM:228960
HP:0034345	Mendelian inheritance	87178	PNPT1	OMIM:614932
HP:0034345	Mendelian inheritance	87178	PNPT1	OMIM:614934
HP:0034345	Mendelian inheritance	3708	ITPR1	OMIM:206700
HP:0034345	Mendelian inheritance	3229	HOXC13	OMIM:614931
HP:0034345	Mendelian inheritance	3480	IGF1R	OMIM:270450
HP:0034345	Mendelian inheritance	23639	DNAAF11	OMIM:614935
HP:0034345	Mendelian inheritance	374407	DNAJB13	OMIM:617091
HP:0034345	Mendelian inheritance	11113	CIT	OMIM:617090
HP:0034345	Mendelian inheritance	10128	LRPPRC	OMIM:220111
HP:0034345	Mendelian inheritance	64327	LMBR1	OMIM:200500
HP:0034345	Mendelian inheritance	3376	IARS1	OMIM:617093
HP:0034345	Mendelian inheritance	83538	ODAD4	OMIM:617092
HP:0034345	Mendelian inheritance	90268	OTULIN	OMIM:617099
HP:0034345	Mendelian inheritance	7172	TPMT	OMIM:610460
HP:0034345	Mendelian inheritance	6091	ROBO1	OMIM:257400
HP:0034345	Mendelian inheritance	11136	SLC7A9	OMIM:220100
HP:0034345	Mendelian inheritance	6519	SLC3A1	OMIM:220100
HP:0034345	Mendelian inheritance	8443	GNPAT	OMIM:222765
HP:0034345	Mendelian inheritance	2261	FGFR3	OMIM:610474
HP:0034345	Mendelian inheritance	973	CD79A	OMIM:613501
HP:0034345	Mendelian inheritance	25914	RTTN	OMIM:614833
HP:0034345	Mendelian inheritance	3543	IGLL1	OMIM:613500
HP:0034345	Mendelian inheritance	1824	DSC2	OMIM:610476
HP:0034345	Mendelian inheritance	2911	GRM1	OMIM:614831
HP:0034345	Mendelian inheritance	29760	BLNK	OMIM:613502
HP:0034345	Mendelian inheritance	152816	ODAPH	OMIM:614832
HP:0034345	Mendelian inheritance	93589	CACNA2D4	OMIM:610478
HP:0034345	Mendelian inheritance	84634	KISS1R	OMIM:614837
HP:0034345	Mendelian inheritance	6866	TAC3	OMIM:614839
HP:0034345	Mendelian inheritance	6870	TACR3	OMIM:614840
HP:0034345	Mendelian inheritance	23090	ZNF423	OMIM:614844
HP:0034345	Mendelian inheritance	22897	CEP164	OMIM:614845
HP:0034345	Mendelian inheritance	3814	KISS1	OMIM:614842
HP:0034345	Mendelian inheritance	646960	PRSS56	OMIM:613517
HP:0034345	Mendelian inheritance	8546	AP3B1	OMIM:608233
HP:0034345	Mendelian inheritance	8802	SUCLG1	OMIM:245400
HP:0034345	Mendelian inheritance	1717	DHCR7	OMIM:270400
HP:0034345	Mendelian inheritance	132158	GLYCTK	OMIM:220120
HP:0034345	Mendelian inheritance	51199	NIN	OMIM:614851
HP:0034345	Mendelian inheritance	148022	TICAM1	OMIM:614850
HP:0034345	Mendelian inheritance	649	BMP1	OMIM:614856
HP:0034345	Mendelian inheritance	51021	MRPS16	OMIM:610498
HP:0034345	Mendelian inheritance	221496	LEMD2	OMIM:212500
HP:0034345	Mendelian inheritance	5826	ABCD4	OMIM:614857
HP:0034345	Mendelian inheritance	6911	TBX6	OMIM:122600
HP:0034345	Mendelian inheritance	1727	CYB5R3	OMIM:250800
HP:0034345	Mendelian inheritance	116085	SLC22A12	OMIM:220150
HP:0034345	Mendelian inheritance	197257	LDHD	OMIM:245450
HP:0034345	Mendelian inheritance	5190	PEX6	OMIM:614862
HP:0034345	Mendelian inheritance	5190	PEX6	OMIM:614863
HP:0034345	Mendelian inheritance	5190	PEX6	OMIM:616617
HP:0034345	Mendelian inheritance	7498	XDH	OMIM:278300
HP:0034345	Mendelian inheritance	5828	PEX2	OMIM:614866
HP:0034345	Mendelian inheritance	5828	PEX2	OMIM:614867
HP:0034345	Mendelian inheritance	6789	STK4	OMIM:614868
HP:0034345	Mendelian inheritance	55165	CEP55	OMIM:236500
HP:0034345	Mendelian inheritance	64837	KLC2	OMIM:609541
HP:0034345	Mendelian inheritance	78989	COLEC11	OMIM:265050
HP:0034345	Mendelian inheritance	3208	HPCA	OMIM:224500
HP:0034345	Mendelian inheritance	727	C5	OMIM:609536
HP:0034345	Mendelian inheritance	5192	PEX10	OMIM:614870
HP:0034345	Mendelian inheritance	5192	PEX10	OMIM:614871
HP:0034345	Mendelian inheritance	55670	PEX26	OMIM:614873
HP:0034345	Mendelian inheritance	55670	PEX26	OMIM:614872
HP:0034345	Mendelian inheritance	54919	DNAAF5	OMIM:614874
HP:0034345	Mendelian inheritance	9409	PEX16	OMIM:614877
HP:0034345	Mendelian inheritance	9409	PEX16	OMIM:614876
HP:0034345	Mendelian inheritance	1588	CYP19A1	OMIM:613546
HP:0034345	Mendelian inheritance	7837	PXDN	OMIM:269400
HP:0034345	Mendelian inheritance	9342	SNAP29	OMIM:609528
HP:0034345	Mendelian inheritance	3300	DNAJB2	OMIM:614881
HP:0034345	Mendelian inheritance	5194	PEX13	OMIM:614885
HP:0034345	Mendelian inheritance	5194	PEX13	OMIM:614883
HP:0034345	Mendelian inheritance	50628	GEMIN4	OMIM:617913
HP:0034345	Mendelian inheritance	3460	IFNGR2	OMIM:614889
HP:0034345	Mendelian inheritance	140628	GATA5	OMIM:617912
HP:0034345	Mendelian inheritance	5078	PAX4	OMIM:612227
HP:0034345	Mendelian inheritance	5824	PEX19	OMIM:614886
HP:0034345	Mendelian inheritance	2056	EPO	OMIM:617911
HP:0034345	Mendelian inheritance	5195	PEX14	OMIM:614887
HP:0034345	Mendelian inheritance	1384	CRAT	OMIM:617917
HP:0034345	Mendelian inheritance	85021	REPS1	OMIM:617916
HP:0034345	Mendelian inheritance	4990	SIX6	OMIM:212550
HP:0034345	Mendelian inheritance	80067	DCAF17	OMIM:241080
HP:0034345	Mendelian inheritance	3594	IL12RB1	OMIM:614891
HP:0034345	Mendelian inheritance	51067	YARS2	OMIM:613561
HP:0034345	Mendelian inheritance	3593	IL12B	OMIM:614890
HP:0034345	Mendelian inheritance	10457	GPNMB	OMIM:617920
HP:0034345	Mendelian inheritance	776	CACNA1D	OMIM:614896
HP:0034345	Mendelian inheritance	3329	HSPD1	OMIM:612233
HP:0034345	Mendelian inheritance	27152	INTU	OMIM:617925
HP:0034345	Mendelian inheritance	27152	INTU	OMIM:617926
HP:0034345	Mendelian inheritance	51475	CABP2	OMIM:614899
HP:0034345	Mendelian inheritance	1261	CNGA3	OMIM:216900
HP:0034345	Mendelian inheritance	137492	VPS37A	OMIM:614898
HP:0034345	Mendelian inheritance	10695	CNPY3	OMIM:617929
HP:0034345	Mendelian inheritance	55081	IFT57	OMIM:617927
HP:0034345	Mendelian inheritance	7051	TGM1	OMIM:242300
HP:0034345	Mendelian inheritance	4683	NBN	OMIM:251260
HP:0034345	Mendelian inheritance	81607	NECTIN4	OMIM:613573
HP:0034345	Mendelian inheritance	590	BCHE	OMIM:617936
HP:0034345	Mendelian inheritance	53616	ADAM22	OMIM:617933
HP:0034345	Mendelian inheritance	50939	IMPG2	OMIM:613581
HP:0034345	Mendelian inheritance	79631	EFL1	OMIM:617941
HP:0034345	Mendelian inheritance	51116	MRPS2	OMIM:617950
HP:0034345	Mendelian inheritance	4615	MYD88	OMIM:612260
HP:0034345	Mendelian inheritance	9512	PMPCB	OMIM:617954
HP:0034345	Mendelian inheritance	6097	RORC	OMIM:616622
HP:0034345	Mendelian inheritance	55603	TENT5A	OMIM:617952
HP:0034345	Mendelian inheritance	2058	EPRS1	OMIM:617951
HP:0034345	Mendelian inheritance	1063	CENPF	OMIM:243605
HP:0034345	Mendelian inheritance	26146	TRAF3IP1	OMIM:616629
HP:0034345	Mendelian inheritance	79846	CFAP69	OMIM:617959
HP:0034345	Mendelian inheritance	9056	SLC7A7	OMIM:222700
HP:0034345	Mendelian inheritance	3549	IHH	OMIM:607778
HP:0034345	Mendelian inheritance	1757	SARDH	OMIM:268900
HP:0034345	Mendelian inheritance	80705	TSGA10	OMIM:617961
HP:0034345	Mendelian inheritance	56154	TEX15	OMIM:617960
HP:0034345	Mendelian inheritance	122481	AK7	OMIM:617965
HP:0034345	Mendelian inheritance	1729	DIAPH1	OMIM:616632
HP:0034345	Mendelian inheritance	175	AGA	OMIM:208400
HP:0034345	Mendelian inheritance	5116	PCNT	OMIM:210720
HP:0034345	Mendelian inheritance	27130	INVS	OMIM:602088
HP:0034345	Mendelian inheritance	8820	HESX1	OMIM:182230
HP:0034345	Mendelian inheritance	51128	SAR1B	OMIM:246700
HP:0034345	Mendelian inheritance	2328	FMO3	OMIM:602079
HP:0034345	Mendelian inheritance	401	PHOX2A	OMIM:602078
HP:0034345	Mendelian inheritance	80270	HSD3B7	OMIM:607765
HP:0034345	Mendelian inheritance	6505	SLC1A1	OMIM:222730
HP:0034345	Mendelian inheritance	348938	NIPAL4	OMIM:612281
HP:0034345	Mendelian inheritance	56978	PRDM8	OMIM:616640
HP:0034345	Mendelian inheritance	57468	SLC12A5	OMIM:616645
HP:0034345	Mendelian inheritance	10815	CPLX1	OMIM:617976
HP:0034345	Mendelian inheritance	2588	GALNS	OMIM:253000
HP:0034345	Mendelian inheritance	3704	ITPA	OMIM:616647
HP:0034345	Mendelian inheritance	56270	WDR45B	OMIM:617977
HP:0034345	Mendelian inheritance	79783	SUGCT	OMIM:231690
HP:0034345	Mendelian inheritance	3199	HOXA2	OMIM:612290
HP:0034345	Mendelian inheritance	200894	ARL13B	OMIM:612291
HP:0034345	Mendelian inheritance	9918	NCAPD2	OMIM:617983
HP:0034345	Mendelian inheritance	23397	NCAPH	OMIM:617985
HP:0034345	Mendelian inheritance	23310	NCAPD3	OMIM:617984
HP:0034345	Mendelian inheritance	6509	SLC1A4	OMIM:616657
HP:0034345	Mendelian inheritance	54676	GTPBP2	OMIM:617988
HP:0034345	Mendelian inheritance	100506658	OCLN	OMIM:251290
HP:0034345	Mendelian inheritance	7253	TSHR	OMIM:275200
HP:0034345	Mendelian inheritance	3284	HSD3B2	OMIM:201810
HP:0034345	Mendelian inheritance	9365	KL	OMIM:617994
HP:0034345	Mendelian inheritance	8074	FGF23	OMIM:617993
HP:0034345	Mendelian inheritance	494551	WEE2	OMIM:617996
HP:0034345	Mendelian inheritance	8815	BANF1	OMIM:614008
HP:0034345	Mendelian inheritance	3455	IFNAR2	OMIM:616669
HP:0034345	Mendelian inheritance	51294	PCDH12	OMIM:251280
HP:0034345	Mendelian inheritance	1807	DPYS	OMIM:222748
HP:0034345	Mendelian inheritance	2639	GCDH	OMIM:231670
HP:0034345	Mendelian inheritance	10516	FBLN5	OMIM:219100
HP:0034345	Mendelian inheritance	7148	TNXB	OMIM:606408
HP:0034345	Mendelian inheritance	4747	NEFL	OMIM:607734
HP:0034345	Mendelian inheritance	79587	CARS2	OMIM:616672
HP:0034345	Mendelian inheritance	85378	TUBGCP6	OMIM:251270
HP:0034345	Mendelian inheritance	96459	FNIP1	OMIM:619705
HP:0034345	Mendelian inheritance	55753	OGDHL	OMIM:619701
HP:0034345	Mendelian inheritance	131377	KLHL40	OMIM:615348
HP:0034345	Mendelian inheritance	83544	DNAL1	OMIM:614017
HP:0034345	Mendelian inheritance	100128908	CIROP	OMIM:619702
HP:0034345	Mendelian inheritance	2108	ETFA	OMIM:231680
HP:0034345	Mendelian inheritance	2109	ETFB	OMIM:231680
HP:0034345	Mendelian inheritance	2110	ETFDH	OMIM:231680
HP:0034345	Mendelian inheritance	8328	GFI1B	OMIM:187900
HP:0034345	Mendelian inheritance	2582	GALE	OMIM:230350
HP:0034345	Mendelian inheritance	1121	CHM	OMIM:303100
HP:0034345	Mendelian inheritance	9210	BMP15	OMIM:300510
HP:0034345	Mendelian inheritance	6658	SOX3	OMIM:300123
HP:0034345	Mendelian inheritance	6658	SOX3	OMIM:312000
HP:0034345	Mendelian inheritance	55869	HDAC8	OMIM:300882
HP:0034345	Mendelian inheritance	57526	PCDH19	OMIM:300088
HP:0034345	Mendelian inheritance	79868	ALG13	OMIM:300884
HP:0034345	Mendelian inheritance	7552	ZNF711	OMIM:300803
HP:0034345	Mendelian inheritance	2332	FMR1	OMIM:311360
HP:0034345	Mendelian inheritance	3149	HMGB3	OMIM:300915
HP:0034345	Mendelian inheritance	1287	COL4A5	OMIM:301050
HP:0034345	Mendelian inheritance	54539	NDUFB11	OMIM:301021
HP:0034345	Mendelian inheritance	54885	TBC1D8B	OMIM:301028
HP:0034345	Mendelian inheritance	2664	GDI1	OMIM:300849
HP:0034345	Mendelian inheritance	50945	TBX22	OMIM:302905
HP:0034345	Mendelian inheritance	50945	TBX22	OMIM:303400
HP:0034345	Mendelian inheritance	6102	RP2	OMIM:312600
HP:0034345	Mendelian inheritance	90167	FRMD7	OMIM:310700
HP:0034345	Mendelian inheritance	1641	DCX	OMIM:300067
HP:0034345	Mendelian inheritance	6907	TBL1X	OMIM:301033
HP:0034345	Mendelian inheritance	4007	PRICKLE3	OMIM:308905
HP:0034345	Mendelian inheritance	10149	ADGRG2	OMIM:300985
HP:0034345	Mendelian inheritance	51114	ZDHHC9	OMIM:300799
HP:0034345	Mendelian inheritance	54880	BCOR	OMIM:309800
HP:0034345	Mendelian inheritance	22866	CNKSR2	OMIM:301008
HP:0034345	Mendelian inheritance	63932	STEEP1	OMIM:301013
HP:0034345	Mendelian inheritance	407	ARR3	OMIM:301010
HP:0034345	Mendelian inheritance	7504	XK	OMIM:300842
HP:0034345	Mendelian inheritance	6197	RPS6KA3	OMIM:300844
HP:0034345	Mendelian inheritance	2556	GABRA3	OMIM:301091
HP:0034345	Mendelian inheritance	7030	TFE3	OMIM:301066
HP:0034345	Mendelian inheritance	57502	NLGN4X	OMIM:300495
HP:0034345	Mendelian inheritance	1438	CSF2RA	OMIM:300770
HP:0034345	Mendelian inheritance	4810	NHS	OMIM:302200
HP:0034345	Mendelian inheritance	51311	TLR8	OMIM:301078
HP:0034345	Mendelian inheritance	2742	GLRA2	OMIM:301076
HP:0034345	Mendelian inheritance	93953	GCNA	OMIM:301077
HP:0034345	Mendelian inheritance	54413	NLGN3	OMIM:300425
HP:0034345	Mendelian inheritance	83550	GPR101	OMIM:300943
HP:0034345	Mendelian inheritance	8573	CASK	OMIM:300422
HP:0034345	Mendelian inheritance	10075	HUWE1	OMIM:309590
HP:0034345	Mendelian inheritance	3476	IGBP1	OMIM:300472
HP:0034345	Mendelian inheritance	8243	SMC1A	OMIM:300590
HP:0034345	Mendelian inheritance	778	CACNA1F	OMIM:300476
HP:0034345	Mendelian inheritance	8450	CUL4B	OMIM:300354
HP:0034345	Mendelian inheritance	10134	BCAP31	OMIM:300475
HP:0034345	Mendelian inheritance	9131	AIFM1	OMIM:300232
HP:0034345	Mendelian inheritance	9131	AIFM1	OMIM:310490
HP:0034345	Mendelian inheritance	9131	AIFM1	OMIM:300614
HP:0034345	Mendelian inheritance	9131	AIFM1	OMIM:300816
HP:0034345	Mendelian inheritance	6535	SLC6A8	OMIM:300352
HP:0034345	Mendelian inheritance	27316	RBMX	OMIM:300238
HP:0034345	Mendelian inheritance	10159	ATP6AP2	OMIM:300911
HP:0034345	Mendelian inheritance	10159	ATP6AP2	OMIM:300423
HP:0034345	Mendelian inheritance	10159	ATP6AP2	OMIM:301045
HP:0034345	Mendelian inheritance	5009	OTC	OMIM:311250
HP:0034345	Mendelian inheritance	4693	NDP	OMIM:310600
HP:0034345	Mendelian inheritance	4693	NDP	OMIM:305390
HP:0034345	Mendelian inheritance	1736	DKC1	OMIM:305000
HP:0034345	Mendelian inheritance	538	ATP7A	OMIM:304150
HP:0034345	Mendelian inheritance	538	ATP7A	OMIM:300489
HP:0034345	Mendelian inheritance	538	ATP7A	OMIM:309400
HP:0034345	Mendelian inheritance	1184	CLCN5	OMIM:308990
HP:0034345	Mendelian inheritance	1184	CLCN5	OMIM:300009
HP:0034345	Mendelian inheritance	1184	CLCN5	OMIM:300554
HP:0034345	Mendelian inheritance	1184	CLCN5	OMIM:310468
HP:0034345	Mendelian inheritance	2158	F9	OMIM:306900
HP:0034345	Mendelian inheritance	2158	F9	OMIM:300807
HP:0034345	Mendelian inheritance	4983	OPHN1	OMIM:300486
HP:0034345	Mendelian inheritance	10479	SLC9A6	OMIM:300243
HP:0034345	Mendelian inheritance	4281	MID1	OMIM:300000
HP:0034345	Mendelian inheritance	24137	KIF4A	OMIM:300923
HP:0034345	Mendelian inheritance	2623	GATA1	OMIM:300367
HP:0034345	Mendelian inheritance	2623	GATA1	OMIM:314050
HP:0034345	Mendelian inheritance	2623	GATA1	OMIM:301083
HP:0034345	Mendelian inheritance	2623	GATA1	OMIM:300835
HP:0034345	Mendelian inheritance	6855	SYP	OMIM:300802
HP:0034345	Mendelian inheritance	51360	MBTPS2	OMIM:300918
HP:0034345	Mendelian inheritance	51360	MBTPS2	OMIM:308800
HP:0034345	Mendelian inheritance	51360	MBTPS2	OMIM:301014
HP:0034345	Mendelian inheritance	51360	MBTPS2	OMIM:308205
HP:0034345	Mendelian inheritance	8239	USP9X	OMIM:300919
HP:0034345	Mendelian inheritance	1288	COL4A6	OMIM:300914
HP:0034345	Mendelian inheritance	2273	FHL1	OMIM:300696
HP:0034345	Mendelian inheritance	2273	FHL1	OMIM:300280
HP:0034345	Mendelian inheritance	7102	TSPAN7	OMIM:300210
HP:0034345	Mendelian inheritance	1896	EDA	OMIM:305100
HP:0034345	Mendelian inheritance	2892	GRIA3	OMIM:300699
HP:0034345	Mendelian inheritance	6103	RPGR	OMIM:300455
HP:0034345	Mendelian inheritance	6103	RPGR	OMIM:300834
HP:0034345	Mendelian inheritance	22	ABCB7	OMIM:301310
HP:0034345	Mendelian inheritance	1678	TIMM8A	OMIM:304700
HP:0034345	Mendelian inheritance	215	ABCD1	OMIM:300100
HP:0034345	Mendelian inheritance	633	BGN	OMIM:300106
HP:0034345	Mendelian inheritance	6399	TRAPPC2	OMIM:313400
HP:0034345	Mendelian inheritance	8241	RBM10	OMIM:311900
HP:0034345	Mendelian inheritance	30011	SH3KBP1	OMIM:300310
HP:0034345	Mendelian inheritance	4204	MECP2	OMIM:300673
HP:0034345	Mendelian inheritance	4204	MECP2	OMIM:300055
HP:0034345	Mendelian inheritance	4204	MECP2	OMIM:300260
HP:0034345	Mendelian inheritance	4952	OCRL	OMIM:300555
HP:0034345	Mendelian inheritance	4952	OCRL	OMIM:309000
HP:0034345	Mendelian inheritance	65109	UPF3B	OMIM:300676
HP:0034345	Mendelian inheritance	5956	OPN1LW	OMIM:303700
HP:0034345	Mendelian inheritance	5956	OPN1LW	OMIM:303900
HP:0034345	Mendelian inheritance	2652	OPN1MW	OMIM:303700
HP:0034345	Mendelian inheritance	2652	OPN1MW	OMIM:303800
HP:0034345	Mendelian inheritance	5255	PHKA1	OMIM:300559
HP:0034345	Mendelian inheritance	5063	PAK3	OMIM:300558
HP:0034345	Mendelian inheritance	367	AR	OMIM:312300
HP:0034345	Mendelian inheritance	367	AR	OMIM:300633
HP:0034345	Mendelian inheritance	367	AR	OMIM:300068
HP:0034345	Mendelian inheritance	367	AR	OMIM:313200
HP:0034345	Mendelian inheritance	54440	SASH3	OMIM:301082
HP:0034345	Mendelian inheritance	56159	TEX11	OMIM:309120
HP:0034345	Mendelian inheritance	492	ATP2B3	OMIM:302500
HP:0034345	Mendelian inheritance	3251	HPRT1	OMIM:300322
HP:0034345	Mendelian inheritance	3251	HPRT1	OMIM:300323
HP:0034345	Mendelian inheritance	190	NR0B1	OMIM:300200
HP:0034345	Mendelian inheritance	2187	FANCB	OMIM:314390
HP:0034345	Mendelian inheritance	2187	FANCB	OMIM:300514
HP:0034345	Mendelian inheritance	7547	ZIC3	OMIM:314390
HP:0034345	Mendelian inheritance	7547	ZIC3	OMIM:306955
HP:0034345	Mendelian inheritance	8481	OFD1	OMIM:300209
HP:0034345	Mendelian inheritance	8481	OFD1	OMIM:300424
HP:0034345	Mendelian inheritance	8481	OFD1	OMIM:300804
HP:0034345	Mendelian inheritance	554	AVPR2	OMIM:304800
HP:0034345	Mendelian inheritance	554	AVPR2	OMIM:300539
HP:0034345	Mendelian inheritance	6901	TAFAZZIN	OMIM:302060
HP:0034345	Mendelian inheritance	9968	MED12	OMIM:305450
HP:0034345	Mendelian inheritance	9968	MED12	OMIM:300895
HP:0034345	Mendelian inheritance	9968	MED12	OMIM:309520
HP:0034345	Mendelian inheritance	2258	FGF13	OMIM:301095
HP:0034345	Mendelian inheritance	2258	FGF13	OMIM:301058
HP:0034345	Mendelian inheritance	415	ARSL	OMIM:302950
HP:0034345	Mendelian inheritance	5354	PLP1	OMIM:312080
HP:0034345	Mendelian inheritance	5354	PLP1	OMIM:312920
HP:0034345	Mendelian inheritance	8242	KDM5C	OMIM:300534
HP:0034345	Mendelian inheritance	5230	PGK1	OMIM:300653
HP:0034345	Mendelian inheritance	2717	GLA	OMIM:301500
HP:0034345	Mendelian inheritance	3423	IDS	OMIM:309900
HP:0034345	Mendelian inheritance	254065	BRWD3	OMIM:300659
HP:0034345	Mendelian inheritance	546	ATRX	OMIM:309580
HP:0034345	Mendelian inheritance	6611	SMS	OMIM:309583
HP:0034345	Mendelian inheritance	81887	LAS1L	OMIM:309585
HP:0034345	Mendelian inheritance	9075	CLDN2	OMIM:301060
HP:0034345	Mendelian inheritance	2000	ELF4	OMIM:301074
HP:0034345	Mendelian inheritance	3730	ANOS1	OMIM:308700
HP:0034345	Mendelian inheritance	1536	CYBB	OMIM:306400
HP:0034345	Mendelian inheritance	1536	CYBB	OMIM:300645
HP:0034345	Mendelian inheritance	3897	L1CAM	OMIM:304100
HP:0034345	Mendelian inheritance	3897	L1CAM	OMIM:303350
HP:0034345	Mendelian inheritance	3897	L1CAM	OMIM:307000
HP:0034345	Mendelian inheritance	23676	SMPX	OMIM:301075
HP:0034345	Mendelian inheritance	5631	PRPS1	OMIM:300661
HP:0034345	Mendelian inheritance	5631	PRPS1	OMIM:311070
HP:0034345	Mendelian inheritance	5631	PRPS1	OMIM:301835
HP:0034345	Mendelian inheritance	5631	PRPS1	OMIM:304500
HP:0034345	Mendelian inheritance	6872	TAF1	OMIM:314250
HP:0034345	Mendelian inheritance	6872	TAF1	OMIM:300966
HP:0034345	Mendelian inheritance	170302	ARX	OMIM:300419
HP:0034345	Mendelian inheritance	170302	ARX	OMIM:308350
HP:0034345	Mendelian inheritance	170302	ARX	OMIM:309510
HP:0034345	Mendelian inheritance	2719	GPC3	OMIM:312870
HP:0034345	Mendelian inheritance	2239	GPC4	OMIM:312870
HP:0034345	Mendelian inheritance	2239	GPC4	OMIM:301026
HP:0034345	Mendelian inheritance	5277	PIGA	OMIM:301072
HP:0034345	Mendelian inheritance	5277	PIGA	OMIM:300868
HP:0034345	Mendelian inheritance	8905	AP1S2	OMIM:304340
HP:0034345	Mendelian inheritance	9949	AMMECR1	OMIM:300990
HP:0034345	Mendelian inheritance	139212	DNAAF6	OMIM:300991
HP:0034345	Mendelian inheritance	212	ALAS2	OMIM:300751
HP:0034345	Mendelian inheritance	55217	TMLHE	OMIM:300872
HP:0034345	Mendelian inheritance	2245	FGD1	OMIM:305400
HP:0034345	Mendelian inheritance	10735	STAG2	OMIM:301043
HP:0034345	Mendelian inheritance	695	BTK	OMIM:300755
HP:0034345	Mendelian inheritance	695	BTK	OMIM:307200
HP:0034345	Mendelian inheritance	6134	RPL10	OMIM:300998
HP:0034345	Mendelian inheritance	10046	MAMLD1	OMIM:300758
HP:0034345	Mendelian inheritance	8517	IKBKG	OMIM:300636
HP:0034345	Mendelian inheritance	8517	IKBKG	OMIM:300291
HP:0034345	Mendelian inheritance	5199	CFP	OMIM:312060
HP:0034345	Mendelian inheritance	331	XIAP	OMIM:300635
HP:0034345	Mendelian inheritance	331	XIAP	OMIM:308240
HP:0034345	Mendelian inheritance	8473	OGT	OMIM:300997
HP:0034345	Mendelian inheritance	1756	DMD	OMIM:310200
HP:0034345	Mendelian inheritance	1756	DMD	OMIM:300376
HP:0034345	Mendelian inheritance	203547	VMA21	OMIM:310440
HP:0034345	Mendelian inheritance	3561	IL2RG	OMIM:312863
HP:0034345	Mendelian inheritance	3561	IL2RG	OMIM:300400
HP:0034345	Mendelian inheritance	50943	FOXP3	OMIM:304790
HP:0034345	Mendelian inheritance	959	CD40LG	OMIM:308230
HP:0034345	Mendelian inheritance	55593	OTUD5	OMIM:301056
HP:0034345	Mendelian inheritance	286464	CFAP47	OMIM:301059
HP:0034345	Mendelian inheritance	84100	ARL6	OMIM:268000
HP:0034345	Mendelian inheritance	9227	LRAT	OMIM:268000
HP:0034345	Mendelian inheritance	5949	RBP3	OMIM:268000
HP:0034345	Mendelian inheritance	7401	CLRN1	OMIM:268000
HP:0034345	Mendelian inheritance	5148	PDE6G	OMIM:268000
HP:0034345	Mendelian inheritance	1259	CNGA1	OMIM:268000
HP:0034345	Mendelian inheritance	23746	AIPL1	OMIM:268000
HP:0034345	Mendelian inheritance	6094	ROM1	OMIM:268000
HP:0034345	Mendelian inheritance	1406	CRX	OMIM:268000
HP:0034345	Mendelian inheritance	157657	CFAP418	OMIM:268000
HP:0034345	Mendelian inheritance	1193	CLIC2	OMIM:300886
HP:0034345	Mendelian inheritance	6567	SLC16A2	OMIM:300523
HP:0034345	Mendelian inheritance	3547	IGSF1	OMIM:300888
HP:0034345	Mendelian inheritance	51284	TLR7	OMIM:301051
HP:0034345	Mendelian inheritance	4068	SH2D1A	OMIM:308240
HP:0034345	Mendelian inheritance	2710	GK	OMIM:307030
HP:0034345	Mendelian inheritance	84679	SLC9A7	OMIM:301024
HP:0034345	Mendelian inheritance	90161	HS6ST2	OMIM:301025
HP:0034345	Mendelian inheritance	10916	MAGED2	OMIM:300971
HP:0034345	Mendelian inheritance	1741	DLG3	OMIM:300850
HP:0034345	Mendelian inheritance	4694	NDUFA1	OMIM:301020
HP:0034345	Mendelian inheritance	7454	WAS	OMIM:300299
HP:0034345	Mendelian inheritance	7454	WAS	OMIM:301000
HP:0034345	Mendelian inheritance	7454	WAS	OMIM:313900
HP:0034345	Mendelian inheritance	2316	FLNA	OMIM:305620
HP:0034345	Mendelian inheritance	2316	FLNA	OMIM:300048
HP:0034345	Mendelian inheritance	84061	MAGT1	OMIM:300853
HP:0034345	Mendelian inheritance	84061	MAGT1	OMIM:301031
HP:0034345	Mendelian inheritance	51132	RLIM	OMIM:300978
HP:0034345	Mendelian inheritance	2334	AFF2	OMIM:309548
HP:0034345	Mendelian inheritance	537	ATP6AP1	OMIM:300972
HP:0034345	Mendelian inheritance	55906	ZC4H2	OMIM:314580
HP:0034345	Mendelian inheritance	4128	MAOA	OMIM:300615
HP:0034345	Mendelian inheritance	24140	FTSJ1	OMIM:309549
HP:0034345	Mendelian inheritance	63035	BCORL1	OMIM:301029
HP:0034345	Mendelian inheritance	8260	NAA10	OMIM:300855
HP:0034345	Mendelian inheritance	23229	ARHGEF9	OMIM:300607
HP:0034345	Mendelian inheritance	3054	HCFC1	OMIM:309541
HP:0034345	Mendelian inheritance	91851	CHRDL1	OMIM:309300
HP:0034345	Mendelian inheritance	116442	RAB39B	OMIM:311510
HP:0034345	Mendelian inheritance	116442	RAB39B	OMIM:300271
HP:0034345	Mendelian inheritance	2010	EMD	OMIM:310300
HP:0034345	Mendelian inheritance	8471	IRS4	OMIM:301035
HP:0034345	Mendelian inheritance	80311	KLHL15	OMIM:300982
HP:0034345	Mendelian inheritance	5422	POLA1	OMIM:301030
HP:0034345	Mendelian inheritance	5422	POLA1	OMIM:301220
HP:0034345	Mendelian inheritance	7319	UBE2A	OMIM:300860
HP:0034345	Mendelian inheritance	4478	MSN	OMIM:300988
HP:0034345	Mendelian inheritance	7317	UBA1	OMIM:301830
HP:0034345	Mendelian inheritance	9758	FRMPD4	OMIM:300983
HP:0034345	Mendelian inheritance	79576	NKAP	OMIM:301039
HP:0034345	Mendelian inheritance	389856	USP27X	OMIM:300984
HP:0034345	Mendelian inheritance	412	STS	OMIM:308100
HP:0034345	Mendelian inheritance	50814	NSDHL	OMIM:300831
HP:0034345	Mendelian inheritance	139411	PTCHD1	OMIM:300830
HP:0034345	Mendelian inheritance	57187	THOC2	OMIM:300957
HP:0034345	Mendelian inheritance	8270	LAGE3	OMIM:301006
HP:0034345	Mendelian inheritance	6247	RS1	OMIM:312700
HP:0034345	Mendelian inheritance	4534	MTM1	OMIM:310400
HP:0034345	Mendelian inheritance	5456	POU3F4	OMIM:304400
HP:0034345	Mendelian inheritance	10804	GJB6	OMIM:304400
HP:0034345	Mendelian inheritance	2706	GJB2	OMIM:304400
HP:0034345	Mendelian inheritance	286410	ATP11C	OMIM:301015
HP:0034345	Mendelian inheritance	10682	EBP	OMIM:300960
HP:0034345	Mendelian inheritance	2157	F8	OMIM:306700
HP:0034345	Mendelian inheritance	4841	NONO	OMIM:300967
HP:0034345	Mendelian inheritance	79983	POF1B	OMIM:300604
HP:0034345	Mendelian inheritance	114928	GPRASP2	OMIM:301018
HP:0034345	Mendelian inheritance	28952	CCDC22	OMIM:300963
HP:0034345	Mendelian inheritance	1654	DDX3X	OMIM:300958
HP:0034345	Mendelian inheritance	23096	IQSEC2	OMIM:309530
HP:0034345	Mendelian inheritance	6853	SYN1	OMIM:300491
HP:0034345	Mendelian inheritance	84295	PHF6	OMIM:301900
HP:0034345	Mendelian inheritance	10084	PQBP1	OMIM:309500
HP:0034345	Mendelian inheritance	6748	SSR4	OMIM:300934
HP:0034345	Mendelian inheritance	4935	GPR143	OMIM:300814
HP:0034345	Mendelian inheritance	11043	MID2	OMIM:300928
HP:0034345	Mendelian inheritance	60506	NYX	OMIM:310500
HP:0034345	Mendelian inheritance	23133	PHF8	OMIM:300263
HP:0034345	Mendelian inheritance	9130	FAM50A	OMIM:300261
HP:0034345	Mendelian inheritance	11141	IL1RAPL1	OMIM:300143
HP:0034345	Mendelian inheritance	1968	EIF2S3	OMIM:300148
HP:0034345	Mendelian inheritance	90121	TSR2	OMIM:300946
HP:0034345	Mendelian inheritance	8823	FGF16	OMIM:309630
HP:0034345	Mendelian inheritance	5256	PHKA2	OMIM:306000
HP:0034345	Mendelian inheritance	265	AMELX	OMIM:301200
HP:0034345	Mendelian inheritance	64840	PORCN	OMIM:305600
HP:0034345	Mendelian inheritance	1947	EFNB1	OMIM:304110
HP:0034345	Mendelian inheritance	6792	CDKL5	OMIM:300672
HP:0034345	Mendelian inheritance	1730	DIAPH2	OMIM:300511
HP:0034345	Mendelian inheritance	340533	NEXMIF	OMIM:300912
HP:0034345	Mendelian inheritance	1183	CLCN4	OMIM:300114
HP:0034345	Mendelian inheritance	1349	COX7B	OMIM:309801
HP:0034345	Mendelian inheritance	1349	COX7B	OMIM:300887
HP:0034345	Mendelian inheritance	3052	HCCS	OMIM:309801
HP:0034345	Mendelian inheritance	3028	HSD17B10	OMIM:300438
HP:0034345	Mendelian inheritance	7737	RNF113A	OMIM:300953
HP:0034345	Mendelian inheritance	92002	CCNQ	OMIM:300707
HP:0034345	Mendelian inheritance	2539	G6PD	OMIM:300908
HP:0034345	Mendelian inheritance	5165	PDK3	OMIM:300905
HP:0034345	Mendelian inheritance	5160	PDHA1	OMIM:312170
HP:0034345	Mendelian inheritance	9338	TCEAL1	OMIM:301094
HP:0034345	Mendelian inheritance	139285	AMER1	OMIM:300373
HP:0034345	Mendelian inheritance	5251	PHEX	OMIM:307800
HP:0034345	Mendelian inheritance	7355	SLC35A2	OMIM:300896
HP:0034345	Mendelian inheritance	3920	LAMP2	OMIM:300257
HP:0034345	Mendelian inheritance	29978	UBQLN2	OMIM:300857
HP:0034345	Mendelian inheritance	2182	ACSL4	OMIM:300387
HP:0034345	Mendelian inheritance	10943	MSL3	OMIM:301032
HP:0034345	Mendelian inheritance	10013	HDAC6	OMIM:300863
HP:0034345	Mendelian inheritance	2705	GJB1	OMIM:302800
HP:0034345	Mendelian inheritance	7403	KDM6A	OMIM:300867
HP:0034345	Mendelian inheritance	3188	HNRNPH2	OMIM:300986
HP:0034345	Mendelian inheritance	4512	MT-CO1	OMIM:540000
HP:0034345	Mendelian inheritance	4513	MT-CO2	OMIM:540000
HP:0034345	Mendelian inheritance	4514	MT-CO3	OMIM:540000
HP:0034345	Mendelian inheritance	4514	MT-CO3	OMIM:535000
HP:0034345	Mendelian inheritance	4519	MT-CYB	OMIM:540000
HP:0034345	Mendelian inheritance	4519	MT-CYB	OMIM:535000
HP:0034345	Mendelian inheritance	4511	MT-TC	OMIM:540000
HP:0034345	Mendelian inheritance	4574	MT-TS1	OMIM:540000
HP:0034345	Mendelian inheritance	4574	MT-TS1	OMIM:220110
HP:0034345	Mendelian inheritance	4574	MT-TS1	OMIM:580000
HP:0034345	Mendelian inheritance	4575	MT-TS2	OMIM:540000
HP:0034345	Mendelian inheritance	4558	MT-TF	OMIM:540000
HP:0034345	Mendelian inheritance	4558	MT-TF	OMIM:545000
HP:0034345	Mendelian inheritance	4541	MT-ND6	OMIM:540000
HP:0034345	Mendelian inheritance	4541	MT-ND6	OMIM:535000
HP:0034345	Mendelian inheritance	4567	MT-TL1	OMIM:540000
HP:0034345	Mendelian inheritance	4567	MT-TL1	OMIM:545000
HP:0034345	Mendelian inheritance	4540	MT-ND5	OMIM:540000
HP:0034345	Mendelian inheritance	4540	MT-ND5	OMIM:535000
HP:0034345	Mendelian inheritance	4566	MT-TK	OMIM:540000
HP:0034345	Mendelian inheritance	4566	MT-TK	OMIM:545000
HP:0034345	Mendelian inheritance	4535	MT-ND1	OMIM:540000
HP:0034345	Mendelian inheritance	4535	MT-ND1	OMIM:535000
HP:0034345	Mendelian inheritance	4572	MT-TQ	OMIM:540000
HP:0034345	Mendelian inheritance	4577	MT-TV	OMIM:540000
HP:0034345	Mendelian inheritance	4578	MT-TW	OMIM:540000
HP:0034345	Mendelian inheritance	4570	MT-TN	OMIM:220110
HP:0034345	Mendelian inheritance	6834	SURF1	OMIM:220110
HP:0034345	Mendelian inheritance	4724	NDUFS4	OMIM:252010
HP:0034345	Mendelian inheritance	4576	MT-TT	OMIM:551000
HP:0034345	Mendelian inheritance	55687	TRMU	OMIM:580000
HP:0034345	Mendelian inheritance	4508	MT-ATP6	OMIM:551500
HP:0034345	Mendelian inheritance	4508	MT-ATP6	OMIM:535000
HP:0034345	Mendelian inheritance	112812	FDX2	OMIM:251900
HP:0034345	Mendelian inheritance	4571	MT-TP	OMIM:545000
HP:0034345	Mendelian inheritance	4565	MT-TI	OMIM:545000
HP:0034345	Mendelian inheritance	4539	MT-ND4L	OMIM:535000
HP:0034345	Mendelian inheritance	4536	MT-ND2	OMIM:535000
HP:0034345	Mendelian inheritance	4538	MT-ND4	OMIM:535000
HP:0034345	Mendelian inheritance	617	BCS1L	OMIM:124000
HP:0034345	Mendelian inheritance	57055	DAZ2	OMIM:415000
HP:0034345	Mendelian inheritance	5940	RBMY1A1	OMIM:415000
HP:0034345	Mendelian inheritance	9082	XKRY	OMIM:415000
HP:0034345	Mendelian inheritance	57054	DAZ3	OMIM:415000
HP:0034345	Mendelian inheritance	1617	DAZ1	OMIM:415000
HP:0034345	Mendelian inheritance	8284	KDM5D	OMIM:415000
HP:0034345	Mendelian inheritance	442862	PRY2	OMIM:415000
HP:0034345	Mendelian inheritance	9081	PRY	OMIM:415000
HP:0034345	Mendelian inheritance	140032	RPS4Y2	OMIM:415000
HP:0034345	Mendelian inheritance	9426	CDY2A	OMIM:415000
HP:0034345	Mendelian inheritance	9083	BPY2	OMIM:415000
HP:0034345	Mendelian inheritance	86614	HSFY1	OMIM:415000
HP:0034345	Mendelian inheritance	9084	VCY	OMIM:415000
HP:0034345	Mendelian inheritance	8287	USP9Y	OMIM:415000
HP:0034345	Mendelian inheritance	9085	CDY1	OMIM:415000
HP:0034345	Mendelian inheritance	8653	DDX3Y	OMIM:415000
HP:0034345	Mendelian inheritance	6736	SRY	OMIM:400044
HP:0034345	Mendelian inheritance	90665	TBL1Y	OMIM:400047
HP:0034346	Nesidioblastosis	3767	KCNJ11	OMIM:601820
HP:0034347	Greater auricular nerve thickening	79628	SH3TC2	OMIM:601596
HP:0034348	Subpulmonary stenosis	5337	PLD1	OMIM:212093
HP:0034349	Supravalvar pulmonary stenosis	161742	SPRED1	OMIM:611431
HP:0034349	Supravalvar pulmonary stenosis	84231	TRAF7	OMIM:618164
HP:0034349	Supravalvar pulmonary stenosis	23137	SMC5	OMIM:620185
HP:0008491	Premature anterior fontanel closure	79158	GNPTAB	OMIM:252500
HP:0008491	Premature anterior fontanel closure	56896	DPYSL5	OMIM:619435
HP:0008490	Sacral segmentation defect	6872	TAF1	ORPHA:480907
HP:0008490	Sacral segmentation defect	81839	VANGL1	OMIM:600145
HP:0008490	Sacral segmentation defect	3110	MNX1	OMIM:176450
HP:0000340	Sloping forehead	11113	CIT	OMIM:617090
HP:0000340	Sloping forehead	11113	CIT	ORPHA:2512
HP:0000340	Sloping forehead	27238	GPKOW	ORPHA:2570
HP:0000340	Sloping forehead	23141	ANKLE2	OMIM:616681
HP:0000340	Sloping forehead	23141	ANKLE2	ORPHA:2512
HP:0000340	Sloping forehead	10617	STAMBP	OMIM:614261
HP:0000340	Sloping forehead	6309	SC5D	ORPHA:46059
HP:0000340	Sloping forehead	6309	SC5D	OMIM:607330
HP:0000340	Sloping forehead	23019	CNOT1	OMIM:618500
HP:0000340	Sloping forehead	23019	CNOT1	ORPHA:556955
HP:0000340	Sloping forehead	4683	NBN	OMIM:251260
HP:0000340	Sloping forehead	4683	NBN	ORPHA:647
HP:0000340	Sloping forehead	8425	LTBP4	OMIM:613177
HP:0000340	Sloping forehead	100151683	RNU4ATAC	OMIM:210710
HP:0000340	Sloping forehead	100151683	RNU4ATAC	OMIM:226960
HP:0000340	Sloping forehead	100151683	RNU4ATAC	ORPHA:2636
HP:0000340	Sloping forehead	55627	SMPD4	OMIM:618622
HP:0000340	Sloping forehead	57122	NUP107	OMIM:618348
HP:0000340	Sloping forehead	57122	NUP107	OMIM:616730
HP:0000340	Sloping forehead	7360	UGP2	OMIM:618744
HP:0000340	Sloping forehead	84942	WDR73	OMIM:251300
HP:0000340	Sloping forehead	2737	GLI3	ORPHA:36
HP:0000340	Sloping forehead	374654	KIF7	ORPHA:36
HP:0000340	Sloping forehead	4784	NFIX	ORPHA:447980
HP:0000340	Sloping forehead	10733	PLK4	OMIM:616171
HP:0000340	Sloping forehead	10733	PLK4	ORPHA:2518
HP:0000340	Sloping forehead	5932	RBBP8	OMIM:606744
HP:0000340	Sloping forehead	5932	RBBP8	OMIM:251255
HP:0000340	Sloping forehead	1062	CENPE	OMIM:616051
HP:0000340	Sloping forehead	10300	KATNB1	OMIM:616212
HP:0000340	Sloping forehead	10300	KATNB1	ORPHA:89844
HP:0000340	Sloping forehead	80816	ASXL3	OMIM:615485
HP:0000340	Sloping forehead	5649	RELN	ORPHA:89844
HP:0000340	Sloping forehead	5649	RELN	OMIM:257320
HP:0000340	Sloping forehead	54820	NDE1	ORPHA:89844
HP:0000340	Sloping forehead	54820	NDE1	OMIM:605013
HP:0000340	Sloping forehead	5859	QARS1	OMIM:615760
HP:0000340	Sloping forehead	113179	ADAT3	ORPHA:363528
HP:0000340	Sloping forehead	51506	UFC1	OMIM:618076
HP:0000340	Sloping forehead	9662	CEP135	OMIM:614673
HP:0000340	Sloping forehead	9662	CEP135	ORPHA:2512
HP:0000340	Sloping forehead	55033	FKBP14	OMIM:614557
HP:0000340	Sloping forehead	26128	KIFBP	ORPHA:66629
HP:0000340	Sloping forehead	57082	KNL1	OMIM:604321
HP:0000340	Sloping forehead	57082	KNL1	ORPHA:2512
HP:0000340	Sloping forehead	5053	PAH	ORPHA:2209
HP:0000340	Sloping forehead	29954	POMT2	OMIM:236670
HP:0000340	Sloping forehead	9215	LARGE1	OMIM:236670
HP:0000340	Sloping forehead	79147	FKRP	OMIM:236670
HP:0000340	Sloping forehead	10585	POMT1	OMIM:236670
HP:0000340	Sloping forehead	2218	FKTN	OMIM:236670
HP:0000340	Sloping forehead	79840	NHEJ1	ORPHA:169079
HP:0000340	Sloping forehead	284403	WDR62	OMIM:604317
HP:0000340	Sloping forehead	284403	WDR62	ORPHA:2512
HP:0000340	Sloping forehead	25839	COG4	ORPHA:263501
HP:0000340	Sloping forehead	10735	STAG2	OMIM:301022
HP:0000340	Sloping forehead	56915	EXOSC5	OMIM:619576
HP:0000340	Sloping forehead	63925	ZNF335	OMIM:615095
HP:0000340	Sloping forehead	27341	RRP7A	OMIM:619453
HP:0000340	Sloping forehead	816	CAMK2B	OMIM:617799
HP:0000340	Sloping forehead	80746	TSEN2	OMIM:612389
HP:0000340	Sloping forehead	80746	TSEN2	ORPHA:2524
HP:0000340	Sloping forehead	93627	TBCK	OMIM:616900
HP:0000340	Sloping forehead	93627	TBCK	ORPHA:488632
HP:0000340	Sloping forehead	1509	CTSD	OMIM:610127
HP:0000340	Sloping forehead	672	BRCA1	ORPHA:84
HP:0000340	Sloping forehead	10459	MAD2L2	ORPHA:84
HP:0000340	Sloping forehead	7516	XRCC2	ORPHA:84
HP:0000340	Sloping forehead	29089	UBE2T	ORPHA:84
HP:0000340	Sloping forehead	675	BRCA2	ORPHA:84
HP:0000340	Sloping forehead	55120	FANCL	ORPHA:84
HP:0000340	Sloping forehead	2177	FANCD2	ORPHA:84
HP:0000340	Sloping forehead	2175	FANCA	ORPHA:84
HP:0000340	Sloping forehead	2187	FANCB	ORPHA:84
HP:0000340	Sloping forehead	2176	FANCC	ORPHA:84
HP:0000340	Sloping forehead	2178	FANCE	ORPHA:84
HP:0000340	Sloping forehead	2188	FANCF	ORPHA:84
HP:0000340	Sloping forehead	2189	FANCG	ORPHA:84
HP:0000340	Sloping forehead	5888	RAD51	ORPHA:84
HP:0000340	Sloping forehead	5889	RAD51C	ORPHA:84
HP:0000340	Sloping forehead	55159	RFWD3	ORPHA:84
HP:0000340	Sloping forehead	83990	BRIP1	ORPHA:84
HP:0000340	Sloping forehead	57697	FANCM	ORPHA:84
HP:0000340	Sloping forehead	79728	PALB2	ORPHA:84
HP:0000340	Sloping forehead	84464	SLX4	ORPHA:84
HP:0000340	Sloping forehead	2072	ERCC4	ORPHA:84
HP:0000340	Sloping forehead	55215	FANCI	ORPHA:84
HP:0000340	Sloping forehead	6491	STIL	OMIM:612703
HP:0000340	Sloping forehead	6491	STIL	ORPHA:2512
HP:0000340	Sloping forehead	84314	TMEM107	ORPHA:564
HP:0000340	Sloping forehead	26123	TCTN3	ORPHA:564
HP:0000340	Sloping forehead	79867	TCTN2	ORPHA:564
HP:0000340	Sloping forehead	80776	B9D2	ORPHA:564
HP:0000340	Sloping forehead	79600	TCTN1	ORPHA:564
HP:0000340	Sloping forehead	57096	RPGRIP1	ORPHA:564
HP:0000340	Sloping forehead	79848	CSPP1	ORPHA:564
HP:0000340	Sloping forehead	80184	CEP290	ORPHA:564
HP:0000340	Sloping forehead	51259	TMEM216	ORPHA:564
HP:0000340	Sloping forehead	57545	CC2D2A	ORPHA:564
HP:0000340	Sloping forehead	79583	TMEM231	ORPHA:564
HP:0000340	Sloping forehead	91147	TMEM67	ORPHA:564
HP:0000340	Sloping forehead	79770	TXNDC15	ORPHA:564
HP:0000340	Sloping forehead	27077	B9D1	ORPHA:564
HP:0000340	Sloping forehead	23322	RPGRIP1L	ORPHA:564
HP:0000340	Sloping forehead	54903	MKS1	ORPHA:564
HP:0000340	Sloping forehead	54903	MKS1	OMIM:249000
HP:0000340	Sloping forehead	65062	TMEM237	ORPHA:564
HP:0000340	Sloping forehead	1781	DYNC1I2	OMIM:618492
HP:0000340	Sloping forehead	283989	TSEN54	ORPHA:166063
HP:0000340	Sloping forehead	283989	TSEN54	ORPHA:2524
HP:0000340	Sloping forehead	29968	PSAT1	ORPHA:284417
HP:0000340	Sloping forehead	29968	PSAT1	OMIM:616038
HP:0000340	Sloping forehead	9184	BUB3	ORPHA:1052
HP:0000340	Sloping forehead	699	BUB1	ORPHA:1052
HP:0000340	Sloping forehead	9702	CEP57	ORPHA:1052
HP:0000340	Sloping forehead	9319	TRIP13	ORPHA:1052
HP:0000340	Sloping forehead	701	BUB1B	ORPHA:1052
HP:0000340	Sloping forehead	26276	VPS33B	OMIM:208085
HP:0000340	Sloping forehead	80185	TTI2	OMIM:615541
HP:0000340	Sloping forehead	80185	TTI2	ORPHA:391307
HP:0000340	Sloping forehead	545	ATR	OMIM:210600
HP:0000340	Sloping forehead	860	RUNX2	ORPHA:1452
HP:0000340	Sloping forehead	63894	VIPAS39	OMIM:613404
HP:0000340	Sloping forehead	5116	PCNT	OMIM:210720
HP:0000340	Sloping forehead	26040	SETBP1	OMIM:269150
HP:0000340	Sloping forehead	55644	OSGEP	OMIM:617729
HP:0000340	Sloping forehead	60386	SLC25A19	ORPHA:99742
HP:0000340	Sloping forehead	60386	SLC25A19	OMIM:607196
HP:0000340	Sloping forehead	26227	PHGDH	OMIM:256520
HP:0000340	Sloping forehead	2074	ERCC6	OMIM:214150
HP:0000340	Sloping forehead	3981	LIG4	ORPHA:235
HP:0000340	Sloping forehead	54888	NSUN2	ORPHA:235
HP:0000340	Sloping forehead	1021	CDK6	OMIM:616080
HP:0000340	Sloping forehead	1021	CDK6	ORPHA:2512
HP:0000340	Sloping forehead	80347	COASY	OMIM:618266
HP:0000340	Sloping forehead	3590	IL11RA	OMIM:614188
HP:0000340	Sloping forehead	5063	PAK3	OMIM:300558
HP:0000340	Sloping forehead	26005	C2CD3	ORPHA:434179
HP:0000340	Sloping forehead	116115	ZNF526	OMIM:619877
HP:0000340	Sloping forehead	25914	RTTN	ORPHA:468631
HP:0000340	Sloping forehead	10436	EMG1	ORPHA:1270
HP:0000340	Sloping forehead	9918	NCAPD2	OMIM:617983
HP:0000340	Sloping forehead	55755	CDK5RAP2	OMIM:604804
HP:0000340	Sloping forehead	55755	CDK5RAP2	ORPHA:2512
HP:0000340	Sloping forehead	56098	PCDHGC4	OMIM:619880
HP:0000340	Sloping forehead	4256	MGP	ORPHA:85202
HP:0000340	Sloping forehead	116461	TSEN15	ORPHA:2524
HP:0000340	Sloping forehead	79042	TSEN34	ORPHA:2524
HP:0000340	Sloping forehead	51091	SEPSECS	ORPHA:2524
HP:0000340	Sloping forehead	9928	KIF14	OMIM:616258
HP:0000340	Sloping forehead	9928	KIF14	OMIM:617914
HP:0000340	Sloping forehead	9928	KIF14	ORPHA:2512
HP:0000340	Sloping forehead	23397	NCAPH	OMIM:617985
HP:0000340	Sloping forehead	3832	KIF11	ORPHA:2526
HP:0000340	Sloping forehead	3832	KIF11	OMIM:152950
HP:0000340	Sloping forehead	55704	CCDC88A	OMIM:617507
HP:0000340	Sloping forehead	25973	PARS2	OMIM:618437
HP:0000340	Sloping forehead	100506658	OCLN	OMIM:251290
HP:0000340	Sloping forehead	79971	WLS	OMIM:619648
HP:0000340	Sloping forehead	22995	CEP152	OMIM:613823
HP:0000340	Sloping forehead	22995	CEP152	ORPHA:2512
HP:0000340	Sloping forehead	8241	RBM10	ORPHA:2886
HP:0000340	Sloping forehead	1376	CPT2	OMIM:608836
HP:0000340	Sloping forehead	259266	ASPM	OMIM:608716
HP:0000340	Sloping forehead	259266	ASPM	ORPHA:2512
HP:0000340	Sloping forehead	9320	TRIP12	OMIM:617752
HP:0000340	Sloping forehead	7518	XRCC4	OMIM:616541
HP:0000340	Sloping forehead	440	ASNS	OMIM:615574
HP:0000340	Sloping forehead	1663	DDX11	OMIM:613398
HP:0000340	Sloping forehead	85378	TUBGCP6	ORPHA:2518
HP:0000340	Sloping forehead	85378	TUBGCP6	OMIM:251270
HP:0000340	Sloping forehead	27229	TUBGCP4	ORPHA:2518
HP:0000340	Sloping forehead	1968	EIF2S3	ORPHA:85282
HP:0000340	Sloping forehead	23522	KAT6B	ORPHA:3047
HP:0000340	Sloping forehead	9276	COPB2	ORPHA:2512
HP:0000340	Sloping forehead	55262	TRAPPC14	ORPHA:2512
HP:0000340	Sloping forehead	163786	SASS6	ORPHA:2512
HP:0000340	Sloping forehead	29920	PYCR2	ORPHA:2512
HP:0000340	Sloping forehead	84879	MFSD2A	ORPHA:2512
HP:0000340	Sloping forehead	4176	MCM7	ORPHA:2512
HP:0000340	Sloping forehead	80254	CEP63	ORPHA:2512
HP:0000340	Sloping forehead	29081	METTL5	ORPHA:2512
HP:0000340	Sloping forehead	23310	NCAPD3	ORPHA:2512
HP:0000340	Sloping forehead	79648	MCPH1	ORPHA:2512
HP:0000340	Sloping forehead	7109	TRAPPC10	ORPHA:2512
HP:0000340	Sloping forehead	1911	PHC1	ORPHA:2512
HP:0000340	Sloping forehead	6884	TAF13	ORPHA:2512
HP:0000340	Sloping forehead	55835	CENPJ	ORPHA:2512
HP:0000340	Sloping forehead	23133	PHF8	OMIM:300263
HP:0000340	Sloping forehead	7546	ZIC2	OMIM:609637
HP:0000340	Sloping forehead	58497	PRUNE1	OMIM:617481
HP:0000340	Sloping forehead	55331	ACER3	OMIM:617762
HP:0000340	Sloping forehead	10844	TUBGCP2	OMIM:618737
HP:0000340	Sloping forehead	7407	VARS1	OMIM:617802
HP:0000340	Sloping forehead	55770	EXOC2	OMIM:619306
HP:0000340	Sloping forehead	6792	CDKL5	ORPHA:1934
HP:0000340	Sloping forehead	3736	KCNA1	ORPHA:1934
HP:0000340	Sloping forehead	9091	PIGQ	ORPHA:1934
HP:0000340	Sloping forehead	2775	GNAO1	ORPHA:1934
HP:0000340	Sloping forehead	81603	TRIM8	ORPHA:1934
HP:0000340	Sloping forehead	2902	GRIN1	ORPHA:1934
HP:0000340	Sloping forehead	79751	SLC25A22	ORPHA:1934
HP:0000340	Sloping forehead	150094	SIK1	ORPHA:1934
HP:0000340	Sloping forehead	8573	CASK	ORPHA:1934
HP:0000340	Sloping forehead	23312	DMXL2	ORPHA:1934
HP:0000340	Sloping forehead	2917	GRM7	ORPHA:1934
HP:0000340	Sloping forehead	170302	ARX	ORPHA:1934
HP:0000340	Sloping forehead	11284	PNKP	ORPHA:1934
HP:0000340	Sloping forehead	6326	SCN2A	ORPHA:1934
HP:0000340	Sloping forehead	51227	PIGP	ORPHA:1934
HP:0000340	Sloping forehead	6324	SCN1B	ORPHA:1934
HP:0000340	Sloping forehead	4761	NEUROD2	ORPHA:1934
HP:0007807	Optic nerve compression	79639	TMEM53	OMIM:619727
HP:0007807	Optic nerve compression	8792	TNFRSF11A	OMIM:612301
HP:0007807	Optic nerve compression	84196	USP48	ORPHA:96253
HP:0007807	Optic nerve compression	7157	TP53	ORPHA:96253
HP:0007807	Optic nerve compression	9101	USP8	ORPHA:96253
HP:0007807	Optic nerve compression	64072	CDH23	ORPHA:96253
HP:0007807	Optic nerve compression	2908	NR3C1	ORPHA:96253
HP:0007807	Optic nerve compression	673	BRAF	ORPHA:96253
HP:0007807	Optic nerve compression	546	ATRX	ORPHA:96253
HP:0007807	Optic nerve compression	7040	TGFB1	ORPHA:1328
HP:0007807	Optic nerve compression	7040	TGFB1	OMIM:131300
HP:0007807	Optic nerve compression	760	CA2	OMIM:259730
HP:0007807	Optic nerve compression	10312	TCIRG1	ORPHA:667
HP:0007807	Optic nerve compression	1186	CLCN7	ORPHA:667
HP:0007807	Optic nerve compression	29887	SNX10	ORPHA:667
HP:0007807	Optic nerve compression	8600	TNFSF11	ORPHA:667
HP:0008494	Inferior lens subluxation	8314	BAP1	ORPHA:39044
HP:0008494	Inferior lens subluxation	57105	CYSLTR2	ORPHA:39044
HP:0008494	Inferior lens subluxation	2776	GNAQ	ORPHA:39044
HP:0008494	Inferior lens subluxation	2767	GNA11	ORPHA:39044
HP:0008494	Inferior lens subluxation	23451	SF3B1	ORPHA:39044
HP:0008497	Congenital craniofacial dysostosis	5573	PRKAR1A	ORPHA:280651
HP:0008497	Congenital craniofacial dysostosis	5144	PDE4D	ORPHA:280651
HP:0008497	Congenital craniofacial dysostosis	29957	SLC25A24	ORPHA:2095
HP:0008497	Congenital craniofacial dysostosis	4488	MSX2	ORPHA:60015
HP:0008497	Congenital craniofacial dysostosis	60529	ALX4	ORPHA:60015
HP:0008496	Multiple rows of eyelashes	80324	PUS1	OMIM:600462
HP:0008496	Multiple rows of eyelashes	80324	PUS1	ORPHA:2598
HP:0008496	Multiple rows of eyelashes	117581	TWIST2	ORPHA:1807
HP:0008496	Multiple rows of eyelashes	117581	TWIST2	OMIM:227260
HP:0008496	Multiple rows of eyelashes	1500	CTNND1	OMIM:617681
HP:0008496	Multiple rows of eyelashes	1500	CTNND1	ORPHA:1997
HP:0008496	Multiple rows of eyelashes	2303	FOXC2	OMIM:153400
HP:0008496	Multiple rows of eyelashes	2303	FOXC2	ORPHA:33001
HP:0008496	Multiple rows of eyelashes	1748	DLX4	OMIM:616788
HP:0008496	Multiple rows of eyelashes	57479	PRR12	OMIM:619539
HP:0008496	Multiple rows of eyelashes	999	CDH1	OMIM:119580
HP:0008496	Multiple rows of eyelashes	999	CDH1	ORPHA:1997
HP:0008496	Multiple rows of eyelashes	51067	YARS2	ORPHA:2598
HP:0008496	Multiple rows of eyelashes	3339	HSPG2	ORPHA:800
HP:0008499	High hypermetropia	167691	LCA5	OMIM:604537
HP:0008499	High hypermetropia	5295	PIK3R1	OMIM:269880
HP:0008499	High hypermetropia	23418	CRB1	ORPHA:35612
HP:0008499	High hypermetropia	23418	CRB1	OMIM:613835
HP:0008499	High hypermetropia	23418	CRB1	OMIM:600105
HP:0008499	High hypermetropia	7439	BEST1	ORPHA:35612
HP:0008499	High hypermetropia	26022	TMEM98	ORPHA:35612
HP:0008499	High hypermetropia	6657	SOX2	ORPHA:35612
HP:0008499	High hypermetropia	220	ALDH1A3	ORPHA:35612
HP:0008499	High hypermetropia	646960	PRSS56	ORPHA:35612
HP:0008499	High hypermetropia	646960	PRSS56	OMIM:613517
HP:0008499	High hypermetropia	83552	MFRP	ORPHA:35612
HP:0008499	High hypermetropia	83552	MFRP	OMIM:611040
HP:0008499	High hypermetropia	30062	RAX	ORPHA:35612
HP:0008499	High hypermetropia	5015	OTX2	ORPHA:35612
HP:0008499	High hypermetropia	4990	SIX6	ORPHA:35612
HP:0008499	High hypermetropia	6023	RMRP	ORPHA:175
HP:0008499	High hypermetropia	57551	TAOK1	OMIM:619575
HP:0008499	High hypermetropia	8473	OGT	OMIM:300997
HP:0008499	High hypermetropia	83938	LRMDA	OMIM:615179
HP:0008499	High hypermetropia	11152	WDR45	OMIM:615179
HP:0008499	High hypermetropia	81857	MED25	ORPHA:464738
HP:0008499	High hypermetropia	81857	MED25	OMIM:616449
HP:0008499	High hypermetropia	6804	STX1A	ORPHA:904
HP:0008499	High hypermetropia	7461	CLIP2	ORPHA:904
HP:0008499	High hypermetropia	84277	DNAJC30	ORPHA:904
HP:0008499	High hypermetropia	8468	FKBP6	ORPHA:904
HP:0008499	High hypermetropia	5982	RFC2	ORPHA:904
HP:0008499	High hypermetropia	2969	GTF2I	ORPHA:904
HP:0008499	High hypermetropia	3984	LIMK1	ORPHA:904
HP:0008499	High hypermetropia	9569	GTF2IRD1	ORPHA:904
HP:0008499	High hypermetropia	155382	VPS37D	ORPHA:904
HP:0008499	High hypermetropia	155368	METTL27	ORPHA:904
HP:0008499	High hypermetropia	114049	BUD23	ORPHA:904
HP:0008499	High hypermetropia	7458	EIF4H	ORPHA:904
HP:0008499	High hypermetropia	84163	GTF2IRD2	ORPHA:904
HP:0008499	High hypermetropia	9275	BCL7B	ORPHA:904
HP:0008499	High hypermetropia	26608	TBL2	ORPHA:904
HP:0008499	High hypermetropia	653361	NCF1	ORPHA:904
HP:0008499	High hypermetropia	135886	TMEM270	ORPHA:904
HP:0008499	High hypermetropia	51085	MLXIPL	ORPHA:904
HP:0008499	High hypermetropia	9031	BAZ1B	ORPHA:904
HP:0008499	High hypermetropia	2006	ELN	ORPHA:904
HP:0008499	High hypermetropia	10383	TUBB4B	OMIM:617879
HP:0008499	High hypermetropia	26504	CNNM4	OMIM:217080
HP:0008499	High hypermetropia	6533	SLC6A6	OMIM:145350
HP:0008499	High hypermetropia	5590	PRKCZ	ORPHA:1606
HP:0008499	High hypermetropia	2563	GABRD	ORPHA:1606
HP:0008499	High hypermetropia	23013	SPEN	ORPHA:1606
HP:0008499	High hypermetropia	8510	MMP23B	ORPHA:1606
HP:0008499	High hypermetropia	7798	LUZP1	ORPHA:1606
HP:0008499	High hypermetropia	6497	SKI	ORPHA:1606
HP:0008499	High hypermetropia	10630	PDPN	ORPHA:1606
HP:0008499	High hypermetropia	3339	HSPG2	ORPHA:1606
HP:0008499	High hypermetropia	10277	UBE4B	ORPHA:1606
HP:0008499	High hypermetropia	8514	KCNAB2	ORPHA:1606
HP:0008499	High hypermetropia	473	RERE	ORPHA:1606
HP:0008499	High hypermetropia	63976	PRDM16	ORPHA:1606
HP:0008499	High hypermetropia	54897	CASZ1	ORPHA:1606
HP:0008499	High hypermetropia	2248	FGF3	ORPHA:90024
HP:0008499	High hypermetropia	2697	GJA1	ORPHA:2710
HP:0008499	High hypermetropia	64802	NMNAT1	OMIM:619260
HP:0008499	High hypermetropia	9333	TGM5	ORPHA:263534
HP:0008499	High hypermetropia	1475	CSTA	ORPHA:263534
HP:0008499	High hypermetropia	64072	CDH23	ORPHA:231169
HP:0008499	High hypermetropia	10083	USH1C	ORPHA:231169
HP:0008499	High hypermetropia	124590	USH1G	ORPHA:231169
HP:0008499	High hypermetropia	83715	ESPN	ORPHA:231169
HP:0008499	High hypermetropia	10518	CIB2	ORPHA:231169
HP:0008499	High hypermetropia	4647	MYO7A	ORPHA:231169
HP:0008499	High hypermetropia	65217	PCDH15	ORPHA:231169
HP:0008499	High hypermetropia	64801	ARV1	OMIM:617020
HP:0008499	High hypermetropia	7750	ZMYM2	OMIM:619522
HP:0008499	High hypermetropia	388552	BLOC1S3	OMIM:614077
HP:0008499	High hypermetropia	57096	RPGRIP1	OMIM:613826
HP:0008499	High hypermetropia	57539	WDR35	ORPHA:1515
HP:0008499	High hypermetropia	112752	IFT43	ORPHA:1515
HP:0008499	High hypermetropia	51098	IFT52	ORPHA:1515
HP:0008499	High hypermetropia	55764	IFT122	ORPHA:1515
HP:0008499	High hypermetropia	57728	WDR19	ORPHA:1515
HP:0008499	High hypermetropia	10743	RAI1	ORPHA:1713
HP:0008499	High hypermetropia	7401	CLRN1	ORPHA:231183
HP:0008499	High hypermetropia	22901	ARSG	ORPHA:231183
HP:0008499	High hypermetropia	4575	MT-TS2	ORPHA:231183
HP:0008499	High hypermetropia	3035	HARS1	ORPHA:231183
HP:0008499	High hypermetropia	84131	CEP78	ORPHA:231183
HP:0008499	High hypermetropia	4089	SMAD4	ORPHA:2588
HP:0008498	No permanent dentition	7021	TFAP2B	ORPHA:46627
HP:0008498	No permanent dentition	64324	NSD1	ORPHA:821
HP:0008498	No permanent dentition	29072	SETD2	ORPHA:821
HP:0008498	No permanent dentition	10297	APC2	ORPHA:821
HP:0031899	Abnormal coagulation factor V activity	2542	SLC37A4	OMIM:619525
HP:0031899	Abnormal coagulation factor V activity	90411	MCFD2	OMIM:613625
HP:0031899	Abnormal coagulation factor V activity	90411	MCFD2	ORPHA:35909
HP:0031899	Abnormal coagulation factor V activity	2153	F5	OMIM:227400
HP:0031899	Abnormal coagulation factor V activity	3998	LMAN1	OMIM:227300
HP:0031899	Abnormal coagulation factor V activity	3998	LMAN1	ORPHA:35909
HP:0031899	Abnormal coagulation factor V activity	191	AHCY	ORPHA:88618
HP:0031815	Abnormal oral physiology	6335	SCN9A	OMIM:133020
HP:0031815	Abnormal oral physiology	9071	CLDN10	OMIM:617671
HP:0031815	Abnormal oral physiology	64834	ELOVL1	OMIM:618527
HP:0031815	Abnormal oral physiology	2263	FGFR2	OMIM:149730
HP:0031815	Abnormal oral physiology	2263	FGFR2	ORPHA:2363
HP:0031815	Abnormal oral physiology	54551	MAGEL2	ORPHA:398069
HP:0031815	Abnormal oral physiology	25978	CHMP2B	ORPHA:803
HP:0031815	Abnormal oral physiology	3178	HNRNPA1	ORPHA:803
HP:0031815	Abnormal oral physiology	8148	TAF15	ORPHA:803
HP:0031815	Abnormal oral physiology	5445	PON2	ORPHA:803
HP:0031815	Abnormal oral physiology	9217	VAPB	ORPHA:803
HP:0031815	Abnormal oral physiology	8878	SQSTM1	ORPHA:803
HP:0031815	Abnormal oral physiology	5630	PRPH	ORPHA:803
HP:0031815	Abnormal oral physiology	29110	TBK1	ORPHA:803
HP:0031815	Abnormal oral physiology	55830	GLT8D1	ORPHA:803
HP:0031815	Abnormal oral physiology	755	CFAP410	ORPHA:803
HP:0031815	Abnormal oral physiology	10891	PPARGC1A	ORPHA:803
HP:0031815	Abnormal oral physiology	6647	SOD1	ORPHA:803
HP:0031815	Abnormal oral physiology	10133	OPTN	ORPHA:803
HP:0031815	Abnormal oral physiology	1639	DCTN1	ORPHA:803
HP:0031815	Abnormal oral physiology	9896	FIG4	ORPHA:803
HP:0031815	Abnormal oral physiology	5444	PON1	ORPHA:803
HP:0031815	Abnormal oral physiology	5446	PON3	ORPHA:803
HP:0031815	Abnormal oral physiology	4744	NEFH	ORPHA:803
HP:0031815	Abnormal oral physiology	5216	PFN1	ORPHA:803
HP:0031815	Abnormal oral physiology	9782	MATR3	ORPHA:803
HP:0031815	Abnormal oral physiology	54209	TREM2	ORPHA:803
HP:0031815	Abnormal oral physiology	7415	VCP	ORPHA:803
HP:0031815	Abnormal oral physiology	283	ANG	ORPHA:803
HP:0031815	Abnormal oral physiology	23435	TARDBP	ORPHA:803
HP:0031815	Abnormal oral physiology	29978	UBQLN2	ORPHA:803
HP:0031815	Abnormal oral physiology	2733	GLE1	ORPHA:803
HP:0031815	Abnormal oral physiology	2521	FUS	ORPHA:803
HP:0031815	Abnormal oral physiology	4750	NEK1	ORPHA:803
HP:0031815	Abnormal oral physiology	2043	EPHA4	ORPHA:803
HP:0031815	Abnormal oral physiology	6311	ATXN2	ORPHA:803
HP:0031815	Abnormal oral physiology	1610	DAO	ORPHA:803
HP:0031815	Abnormal oral physiology	2066	ERBB4	ORPHA:803
HP:0031815	Abnormal oral physiology	311	ANXA11	ORPHA:803
HP:0031815	Abnormal oral physiology	23025	UNC13A	ORPHA:803
HP:0031815	Abnormal oral physiology	899	CCNF	ORPHA:803
HP:0031815	Abnormal oral physiology	400916	CHCHD10	ORPHA:803
HP:0031815	Abnormal oral physiology	64127	NOD2	ORPHA:90340
HP:0031815	Abnormal oral physiology	64127	NOD2	OMIM:617321
HP:0031815	Abnormal oral physiology	1131	CHRM3	OMIM:100100
HP:0031815	Abnormal oral physiology	2255	FGF10	OMIM:180920
HP:0031815	Abnormal oral physiology	2255	FGF10	OMIM:620193
HP:0031815	Abnormal oral physiology	2255	FGF10	ORPHA:2363
HP:0031815	Abnormal oral physiology	6558	SLC12A2	OMIM:619080
HP:0031815	Abnormal oral physiology	2934	GSN	ORPHA:85448
HP:0031815	Abnormal oral physiology	6492	SIM1	ORPHA:398079
HP:0031815	Abnormal oral physiology	1235	CCR6	ORPHA:220393
HP:0031815	Abnormal oral physiology	1490	CCN2	ORPHA:220393
HP:0031815	Abnormal oral physiology	3663	IRF5	ORPHA:220393
HP:0031815	Abnormal oral physiology	857	CAV1	ORPHA:220393
HP:0031815	Abnormal oral physiology	2261	FGFR3	ORPHA:2363
HP:0031815	Abnormal oral physiology	3930	LBR	ORPHA:779
HP:0031815	Abnormal oral physiology	2137	EXTL3	ORPHA:508533
HP:0031815	Abnormal oral physiology	84706	GPT2	OMIM:616281
HP:0031815	Abnormal oral physiology	84706	GPT2	ORPHA:477673
HP:0031815	Abnormal oral physiology	55906	ZC4H2	OMIM:301041
HP:0031815	Abnormal oral physiology	55906	ZC4H2	OMIM:314580
HP:0031815	Abnormal oral physiology	23111	SPART	OMIM:275900
HP:0031815	Abnormal oral physiology	23141	ANKLE2	OMIM:616681
HP:0031815	Abnormal oral physiology	23013	SPEN	OMIM:619312
HP:0031815	Abnormal oral physiology	340533	NEXMIF	OMIM:300912
HP:0031815	Abnormal oral physiology	9759	HDAC4	OMIM:619797
HP:0031815	Abnormal oral physiology	10059	DNM1L	OMIM:614388
HP:0031815	Abnormal oral physiology	23314	SATB2	ORPHA:251028
HP:0031815	Abnormal oral physiology	23314	SATB2	ORPHA:576283
HP:0031815	Abnormal oral physiology	92335	STRADA	ORPHA:500533
HP:0031815	Abnormal oral physiology	9839	ZEB2	OMIM:235730
HP:0031815	Abnormal oral physiology	10159	ATP6AP2	ORPHA:93952
HP:0031815	Abnormal oral physiology	10159	ATP6AP2	OMIM:300423
HP:0031815	Abnormal oral physiology	478	ATP1A3	OMIM:128235
HP:0031815	Abnormal oral physiology	478	ATP1A3	OMIM:619606
HP:0031815	Abnormal oral physiology	478	ATP1A3	ORPHA:71517
HP:0031815	Abnormal oral physiology	10479	SLC9A6	OMIM:300243
HP:0031815	Abnormal oral physiology	6567	SLC16A2	OMIM:300523
HP:0031815	Abnormal oral physiology	55209	SETD5	OMIM:615761
HP:0031815	Abnormal oral physiology	9442	MED27	OMIM:619286
HP:0031815	Abnormal oral physiology	283489	CHAMP1	OMIM:616579
HP:0031815	Abnormal oral physiology	3097	HIVEP2	OMIM:616977
HP:0031815	Abnormal oral physiology	5010	CLDN11	OMIM:619328
HP:0031815	Abnormal oral physiology	23431	AP4E1	OMIM:613744
HP:0031815	Abnormal oral physiology	23431	AP4E1	ORPHA:280763
HP:0031815	Abnormal oral physiology	9179	AP4M1	OMIM:612936
HP:0031815	Abnormal oral physiology	9179	AP4M1	ORPHA:280763
HP:0031815	Abnormal oral physiology	2192	FBLN1	ORPHA:404451
HP:0031815	Abnormal oral physiology	84679	SLC9A7	OMIM:301024
HP:0031815	Abnormal oral physiology	6595	SMARCA2	OMIM:619293
HP:0031815	Abnormal oral physiology	6595	SMARCA2	OMIM:601358
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:98794
HP:0031815	Abnormal oral physiology	7337	UBE3A	OMIM:105830
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:411511
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:411515
HP:0031815	Abnormal oral physiology	4948	OCA2	ORPHA:98794
HP:0031815	Abnormal oral physiology	55777	MBD5	OMIM:156200
HP:0031815	Abnormal oral physiology	4784	NFIX	OMIM:602535
HP:0031815	Abnormal oral physiology	56992	KIF15	ORPHA:261323
HP:0031815	Abnormal oral physiology	8925	HERC1	ORPHA:457359
HP:0031815	Abnormal oral physiology	84340	GFM2	ORPHA:565624
HP:0031815	Abnormal oral physiology	84340	GFM2	OMIM:618397
HP:0031815	Abnormal oral physiology	10588	MTHFS	OMIM:618367
HP:0031815	Abnormal oral physiology	63035	BCORL1	OMIM:301029
HP:0031815	Abnormal oral physiology	9968	MED12	ORPHA:93932
HP:0031815	Abnormal oral physiology	93986	FOXP2	ORPHA:209908
HP:0031815	Abnormal oral physiology	51319	RSRC1	OMIM:618402
HP:0031815	Abnormal oral physiology	9378	NRXN1	OMIM:614325
HP:0031815	Abnormal oral physiology	8398	PLA2G6	ORPHA:35069
HP:0031815	Abnormal oral physiology	8604	SLC25A12	OMIM:612949
HP:0031815	Abnormal oral physiology	2898	GRIK2	OMIM:619580
HP:0031815	Abnormal oral physiology	7703	PCGF2	OMIM:618371
HP:0031815	Abnormal oral physiology	6899	TBX1	OMIM:188400
HP:0031815	Abnormal oral physiology	80856	LNPK	OMIM:618090
HP:0031815	Abnormal oral physiology	84823	LMNB2	OMIM:619180
HP:0031815	Abnormal oral physiology	10087	CERT1	OMIM:616351
HP:0031815	Abnormal oral physiology	5631	PRPS1	OMIM:301835
HP:0031815	Abnormal oral physiology	2906	GRIN2D	OMIM:617162
HP:0031815	Abnormal oral physiology	3188	HNRNPH2	OMIM:300986
HP:0031815	Abnormal oral physiology	128989	TANGO2	OMIM:616878
HP:0031815	Abnormal oral physiology	6304	SATB1	OMIM:619229
HP:0031815	Abnormal oral physiology	10522	DEAF1	OMIM:617171
HP:0031815	Abnormal oral physiology	10522	DEAF1	ORPHA:468620
HP:0031815	Abnormal oral physiology	10717	AP4B1	OMIM:614066
HP:0031815	Abnormal oral physiology	10717	AP4B1	ORPHA:280763
HP:0031815	Abnormal oral physiology	27107	ZBTB11	OMIM:618383
HP:0031815	Abnormal oral physiology	11154	AP4S1	OMIM:614067
HP:0031815	Abnormal oral physiology	11154	AP4S1	ORPHA:280763
HP:0031815	Abnormal oral physiology	10846	PDE10A	ORPHA:494526
HP:0031815	Abnormal oral physiology	10846	PDE10A	OMIM:616921
HP:0031815	Abnormal oral physiology	5063	PAK3	OMIM:300558
HP:0031815	Abnormal oral physiology	6711	SPTBN1	OMIM:619475
HP:0031815	Abnormal oral physiology	3747	KCNC2	OMIM:619913
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:163721
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:98889
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:1945
HP:0031815	Abnormal oral physiology	2903	GRIN2A	ORPHA:163721
HP:0031815	Abnormal oral physiology	2903	GRIN2A	ORPHA:1945
HP:0031815	Abnormal oral physiology	4361	MRE11	ORPHA:251347
HP:0031815	Abnormal oral physiology	9289	ADGRG1	ORPHA:98889
HP:0031815	Abnormal oral physiology	5297	PI4KA	ORPHA:98889
HP:0031815	Abnormal oral physiology	6638	SNRPN	OMIM:105830
HP:0031815	Abnormal oral physiology	6638	SNRPN	ORPHA:411515
HP:0031815	Abnormal oral physiology	6326	SCN2A	ORPHA:33069
HP:0031815	Abnormal oral physiology	2554	GABRA1	ORPHA:33069
HP:0031815	Abnormal oral physiology	6323	SCN1A	ORPHA:33069
HP:0031815	Abnormal oral physiology	6324	SCN1B	ORPHA:33069
HP:0031815	Abnormal oral physiology	57526	PCDH19	ORPHA:33069
HP:0031815	Abnormal oral physiology	2566	GABRG2	ORPHA:33069
HP:0031815	Abnormal oral physiology	2566	GABRG2	ORPHA:1945
HP:0031815	Abnormal oral physiology	11128	POLR3A	ORPHA:447896
HP:0031815	Abnormal oral physiology	11128	POLR3A	OMIM:607694
HP:0031815	Abnormal oral physiology	1737	DLAT	OMIM:245348
HP:0031815	Abnormal oral physiology	55617	TASP1	OMIM:618950
HP:0031815	Abnormal oral physiology	4841	NONO	OMIM:300967
HP:0031815	Abnormal oral physiology	6472	SHMT2	OMIM:619121
HP:0031815	Abnormal oral physiology	23230	VPS13A	OMIM:200150
HP:0031815	Abnormal oral physiology	347733	TUBB2B	OMIM:610031
HP:0031815	Abnormal oral physiology	23261	CAMTA1	OMIM:614756
HP:0031815	Abnormal oral physiology	5376	PMP22	ORPHA:98916
HP:0031815	Abnormal oral physiology	6509	SLC1A4	OMIM:616657
HP:0031815	Abnormal oral physiology	8911	CACNA1I	OMIM:620114
HP:0031815	Abnormal oral physiology	388015	RTL1	ORPHA:96334
HP:0031815	Abnormal oral physiology	8788	DLK1	ORPHA:96334
HP:0031815	Abnormal oral physiology	55384	MEG3	ORPHA:96334
HP:0031815	Abnormal oral physiology	540	ATP7B	OMIM:277900
HP:0031815	Abnormal oral physiology	9568	GABBR2	OMIM:617904
HP:0031815	Abnormal oral physiology	2799	GNS	OMIM:252940
HP:0031815	Abnormal oral physiology	84628	NTNG2	OMIM:618718
HP:0031815	Abnormal oral physiology	55739	NAXD	OMIM:618321
HP:0031815	Abnormal oral physiology	259232	NALCN	OMIM:616266
HP:0031815	Abnormal oral physiology	27086	FOXP1	OMIM:613670
HP:0031815	Abnormal oral physiology	546	ATRX	OMIM:309580
HP:0031815	Abnormal oral physiology	5455	POU3F3	OMIM:618604
HP:0031815	Abnormal oral physiology	9487	PIGL	OMIM:280000
HP:0031815	Abnormal oral physiology	8831	SYNGAP1	OMIM:612621
HP:0031815	Abnormal oral physiology	23219	FBXO28	OMIM:619777
HP:0031815	Abnormal oral physiology	84842	HPDL	OMIM:619026
HP:0031815	Abnormal oral physiology	1968	EIF2S3	OMIM:300148
HP:0031815	Abnormal oral physiology	170302	ARX	OMIM:300419
HP:0031815	Abnormal oral physiology	79628	SH3TC2	ORPHA:99949
HP:0031815	Abnormal oral physiology	9230	RAB11B	OMIM:617807
HP:0031815	Abnormal oral physiology	57194	ATP10A	ORPHA:411515
HP:0031815	Abnormal oral physiology	55703	POLR3B	OMIM:607694
HP:0031815	Abnormal oral physiology	5805	PTS	ORPHA:13
HP:0031815	Abnormal oral physiology	5805	PTS	OMIM:261640
HP:0031815	Abnormal oral physiology	10320	IKZF1	ORPHA:36426
HP:0031815	Abnormal oral physiology	4204	MECP2	OMIM:300055
HP:0031815	Abnormal oral physiology	5860	QDPR	OMIM:261630
HP:0031815	Abnormal oral physiology	55697	VAC14	OMIM:617054
HP:0031815	Abnormal oral physiology	2290	FOXG1	ORPHA:261144
HP:0031815	Abnormal oral physiology	374654	KIF7	OMIM:200990
HP:0031815	Abnormal oral physiology	57468	SLC12A5	OMIM:616645
HP:0031815	Abnormal oral physiology	2643	GCH1	OMIM:233910
HP:0031815	Abnormal oral physiology	9256	TSPOAP1	ORPHA:101150
HP:0031815	Abnormal oral physiology	7054	TH	ORPHA:101150
HP:0031815	Abnormal oral physiology	26191	PTPN22	ORPHA:397
HP:0031815	Abnormal oral physiology	3106	HLA-B	ORPHA:397
HP:0031815	Abnormal oral physiology	3123	HLA-DRB1	ORPHA:397
HP:0031815	Abnormal oral physiology	8974	P4HA2	ORPHA:397
HP:0031815	Abnormal oral physiology	1134	CHRNA1	OMIM:601462
HP:0031815	Abnormal oral physiology	4487	MSX1	ORPHA:141291
HP:0031815	Abnormal oral physiology	4487	MSX1	ORPHA:99798
HP:0031815	Abnormal oral physiology	5818	NECTIN1	ORPHA:141291
HP:0031815	Abnormal oral physiology	8626	TP63	ORPHA:141291
HP:0031815	Abnormal oral physiology	3664	IRF6	ORPHA:141291
HP:0031815	Abnormal oral physiology	3664	IRF6	ORPHA:99798
HP:0031815	Abnormal oral physiology	23394	ADNP	ORPHA:404448
HP:0031815	Abnormal oral physiology	91574	MTRFR	ORPHA:254930
HP:0031815	Abnormal oral physiology	91574	MTRFR	OMIM:613559
HP:0031815	Abnormal oral physiology	8367	H4C5	OMIM:619950
HP:0031815	Abnormal oral physiology	284058	KANSL1	ORPHA:363958
HP:0031815	Abnormal oral physiology	284058	KANSL1	ORPHA:363965
HP:0031815	Abnormal oral physiology	5528	PPP2R5D	ORPHA:457279
HP:0031815	Abnormal oral physiology	23516	SLC39A14	OMIM:617013
HP:0031815	Abnormal oral physiology	3423	IDS	ORPHA:217085
HP:0031815	Abnormal oral physiology	3423	IDS	ORPHA:217093
HP:0031815	Abnormal oral physiology	51126	NAA20	OMIM:619717
HP:0031815	Abnormal oral physiology	10381	TUBB3	ORPHA:300570
HP:0031815	Abnormal oral physiology	57679	ALS2	ORPHA:293168
HP:0031815	Abnormal oral physiology	57679	ALS2	OMIM:607225
HP:0031815	Abnormal oral physiology	79912	PYROXD1	OMIM:617258
HP:0031815	Abnormal oral physiology	3211	HOXB1	OMIM:614744
HP:0031815	Abnormal oral physiology	122622	ADSS1	ORPHA:482601
HP:0031815	Abnormal oral physiology	5837	PYGM	ORPHA:368
HP:0031815	Abnormal oral physiology	2260	FGFR1	ORPHA:99798
HP:0031815	Abnormal oral physiology	128178	EDARADD	ORPHA:99798
HP:0031815	Abnormal oral physiology	5083	PAX9	ORPHA:99798
HP:0031815	Abnormal oral physiology	7341	SUMO1	ORPHA:99798
HP:0031815	Abnormal oral physiology	80326	WNT10A	ORPHA:99798
HP:0031815	Abnormal oral physiology	1896	EDA	ORPHA:99798
HP:0031815	Abnormal oral physiology	8313	AXIN2	ORPHA:99798
HP:0031815	Abnormal oral physiology	4040	LRP6	ORPHA:99798
HP:0031815	Abnormal oral physiology	7039	TGFA	ORPHA:99798
HP:0031815	Abnormal oral physiology	7480	WNT10B	ORPHA:99798
HP:0031815	Abnormal oral physiology	57190	SELENON	ORPHA:2020
HP:0031815	Abnormal oral physiology	58	ACTA1	ORPHA:2020
HP:0031815	Abnormal oral physiology	4633	MYL2	ORPHA:2020
HP:0031815	Abnormal oral physiology	3679	ITGA7	ORPHA:2020
HP:0031815	Abnormal oral physiology	7169	TPM2	ORPHA:2020
HP:0031815	Abnormal oral physiology	9200	HACD1	ORPHA:2020
HP:0031815	Abnormal oral physiology	7170	TPM3	ORPHA:2020
HP:0031815	Abnormal oral physiology	51776	MAP3K20	ORPHA:2020
HP:0031815	Abnormal oral physiology	8292	COLQ	ORPHA:98915
HP:0031815	Abnormal oral physiology	3913	LAMB2	ORPHA:98915
HP:0031815	Abnormal oral physiology	23175	LPIN1	ORPHA:99845
HP:0031815	Abnormal oral physiology	4512	MT-CO1	ORPHA:99845
HP:0031815	Abnormal oral physiology	4514	MT-CO3	ORPHA:99845
HP:0031815	Abnormal oral physiology	10667	FARS2	ORPHA:466722
HP:0031815	Abnormal oral physiology	2902	GRIN1	ORPHA:208447
HP:0031815	Abnormal oral physiology	3908	LAMA2	ORPHA:258
HP:0031815	Abnormal oral physiology	2773	GNAI3	OMIM:602483
HP:0031815	Abnormal oral physiology	2165	F13B	ORPHA:331
HP:0031815	Abnormal oral physiology	2162	F13A1	ORPHA:331
HP:0031815	Abnormal oral physiology	9493	KIF23	ORPHA:98870
HP:0031815	Abnormal oral physiology	29127	RACGAP1	ORPHA:98870
HP:0031815	Abnormal oral physiology	6774	STAT3	ORPHA:520
HP:0031815	Abnormal oral physiology	5371	PML	ORPHA:520
HP:0031815	Abnormal oral physiology	5914	RARA	ORPHA:520
HP:0031815	Abnormal oral physiology	359948	IRF2BP2	ORPHA:520
HP:0031815	Abnormal oral physiology	81608	FIP1L1	ORPHA:520
HP:0031815	Abnormal oral physiology	4869	NPM1	ORPHA:520
HP:0031815	Abnormal oral physiology	5573	PRKAR1A	ORPHA:520
HP:0031815	Abnormal oral physiology	54880	BCOR	ORPHA:520
HP:0031815	Abnormal oral physiology	64859	NABP1	ORPHA:520
HP:0031815	Abnormal oral physiology	6777	STAT5B	ORPHA:520
HP:0031815	Abnormal oral physiology	4926	NUMA1	ORPHA:520
HP:0031815	Abnormal oral physiology	7704	ZBTB16	ORPHA:520
HP:0031815	Abnormal oral physiology	79718	TBL1XR1	ORPHA:520
HP:0031815	Abnormal oral physiology	2157	F8	ORPHA:169802
HP:0031815	Abnormal oral physiology	2159	F10	ORPHA:328
HP:0031815	Abnormal oral physiology	2147	F2	ORPHA:325
HP:0031815	Abnormal oral physiology	2153	F5	ORPHA:326
HP:0031815	Abnormal oral physiology	5054	SERPINE1	ORPHA:465
HP:0031815	Abnormal oral physiology	7454	WAS	OMIM:301000
HP:0031815	Abnormal oral physiology	710	SERPING1	ORPHA:100050
HP:0031815	Abnormal oral physiology	4143	MAT1A	OMIM:250850
HP:0031815	Abnormal oral physiology	8991	SELENBP1	OMIM:618148
HP:0031815	Abnormal oral physiology	6340	SCNN1G	ORPHA:60033
HP:0031815	Abnormal oral physiology	1080	CFTR	ORPHA:60033
HP:0031815	Abnormal oral physiology	6337	SCNN1A	ORPHA:60033
HP:0031815	Abnormal oral physiology	6338	SCNN1B	ORPHA:60033
HP:0031816	Abnormal oral morphology	158	ADSL	OMIM:103050
HP:0031816	Abnormal oral morphology	23241	PACS2	OMIM:618067
HP:0031816	Abnormal oral morphology	10274	STAG1	ORPHA:502434
HP:0031816	Abnormal oral morphology	10274	STAG1	OMIM:617635
HP:0031816	Abnormal oral morphology	54968	TMEM70	ORPHA:1194
HP:0031816	Abnormal oral morphology	9578	CDC42BPB	OMIM:619841
HP:0031816	Abnormal oral morphology	10300	KATNB1	OMIM:616212
HP:0031816	Abnormal oral morphology	55690	PACS1	OMIM:615009
HP:0031816	Abnormal oral morphology	55690	PACS1	ORPHA:329224
HP:0031816	Abnormal oral morphology	10847	SRCAP	ORPHA:2044
HP:0031816	Abnormal oral morphology	10847	SRCAP	OMIM:136140
HP:0031816	Abnormal oral morphology	10847	SRCAP	OMIM:619595
HP:0031816	Abnormal oral morphology	23431	AP4E1	OMIM:613744
HP:0031816	Abnormal oral morphology	23431	AP4E1	ORPHA:280763
HP:0031816	Abnormal oral morphology	3764	KCNJ8	ORPHA:1517
HP:0031816	Abnormal oral morphology	9739	SETD1A	OMIM:619056
HP:0031816	Abnormal oral morphology	815	CAMK2A	OMIM:617798
HP:0031816	Abnormal oral morphology	55623	THUMPD1	OMIM:619989
HP:0031816	Abnormal oral morphology	8493	PPM1D	OMIM:617450
HP:0031816	Abnormal oral morphology	10717	AP4B1	OMIM:614066
HP:0031816	Abnormal oral morphology	10717	AP4B1	ORPHA:280763
HP:0031816	Abnormal oral morphology	11154	AP4S1	OMIM:614067
HP:0031816	Abnormal oral morphology	11154	AP4S1	ORPHA:280763
HP:0031816	Abnormal oral morphology	8363	H4C11	OMIM:619759
HP:0031816	Abnormal oral morphology	10013	HDAC6	ORPHA:163966
HP:0031816	Abnormal oral morphology	116115	ZNF526	OMIM:619877
HP:0031816	Abnormal oral morphology	8364	H4C3	OMIM:619758
HP:0031816	Abnormal oral morphology	9719	ADAMTSL2	OMIM:231050
HP:0031816	Abnormal oral morphology	57459	GATAD2B	ORPHA:363686
HP:0031816	Abnormal oral morphology	57459	GATAD2B	OMIM:615074
HP:0031816	Abnormal oral morphology	6558	SLC12A2	OMIM:619080
HP:0031816	Abnormal oral morphology	253959	RALGAPA1	OMIM:618797
HP:0031816	Abnormal oral morphology	4285	MIPEP	OMIM:617228
HP:0031816	Abnormal oral morphology	7025	NR2F1	OMIM:615722
HP:0031816	Abnormal oral morphology	79971	WLS	OMIM:619648
HP:0031816	Abnormal oral morphology	471	ATIC	OMIM:608688
HP:0031816	Abnormal oral morphology	471	ATIC	ORPHA:250977
HP:0031816	Abnormal oral morphology	5373	PMM2	ORPHA:79318
HP:0031816	Abnormal oral morphology	51574	LARP7	ORPHA:319671
HP:0031816	Abnormal oral morphology	51574	LARP7	OMIM:615071
HP:0031816	Abnormal oral morphology	51322	WAC	ORPHA:466950
HP:0031816	Abnormal oral morphology	5631	PRPS1	OMIM:300661
HP:0031816	Abnormal oral morphology	1642	DDB1	OMIM:619426
HP:0031816	Abnormal oral morphology	9488	PIGB	OMIM:618580
HP:0031816	Abnormal oral morphology	128869	PIGU	OMIM:618590
HP:0031816	Abnormal oral morphology	51412	ACTL6B	OMIM:618470
HP:0031816	Abnormal oral morphology	998	CDC42	OMIM:616737
HP:0031816	Abnormal oral morphology	998	CDC42	ORPHA:487796
HP:0031816	Abnormal oral morphology	23097	CDK19	OMIM:618916
HP:0031816	Abnormal oral morphology	9179	AP4M1	OMIM:612936
HP:0031816	Abnormal oral morphology	9179	AP4M1	ORPHA:280763
HP:0031816	Abnormal oral morphology	4948	OCA2	ORPHA:98794
HP:0031816	Abnormal oral morphology	56915	EXOSC5	OMIM:619576
HP:0031816	Abnormal oral morphology	10265	IRX5	OMIM:611174
HP:0031816	Abnormal oral morphology	201163	FLCN	OMIM:610883
HP:0031816	Abnormal oral morphology	9378	NRXN1	OMIM:614325
HP:0031816	Abnormal oral morphology	9969	MED13	OMIM:618009
HP:0031816	Abnormal oral morphology	91647	ATPAF2	OMIM:604273
HP:0031816	Abnormal oral morphology	80311	KLHL15	OMIM:300982
HP:0031816	Abnormal oral morphology	3188	HNRNPH2	OMIM:300986
HP:0031816	Abnormal oral morphology	5723	PSPH	ORPHA:79350
HP:0031816	Abnormal oral morphology	10771	ZMYND11	OMIM:616083
HP:0031816	Abnormal oral morphology	71	ACTG1	OMIM:614583
HP:0031816	Abnormal oral morphology	71	ACTG1	ORPHA:2995
HP:0031816	Abnormal oral morphology	7737	RNF113A	OMIM:300953
HP:0031816	Abnormal oral morphology	2588	GALNS	OMIM:253000
HP:0031816	Abnormal oral morphology	23040	MYT1L	OMIM:616521
HP:0031816	Abnormal oral morphology	80036	TRPM3	OMIM:620224
HP:0031816	Abnormal oral morphology	374879	ZNF699	OMIM:619488
HP:0031816	Abnormal oral morphology	54870	QRICH1	OMIM:617982
HP:0031816	Abnormal oral morphology	6299	SALL1	ORPHA:857
HP:0031816	Abnormal oral morphology	51339	DACT1	ORPHA:857
HP:0031816	Abnormal oral morphology	6748	SSR4	ORPHA:370927
HP:0031816	Abnormal oral morphology	6748	SSR4	OMIM:300934
HP:0031816	Abnormal oral morphology	51780	KDM3B	OMIM:618846
HP:0031816	Abnormal oral morphology	1663	DDX11	OMIM:613398
HP:0031816	Abnormal oral morphology	9757	KMT2B	OMIM:619934
HP:0031816	Abnormal oral morphology	64802	NMNAT1	OMIM:619260
HP:0031816	Abnormal oral morphology	57194	ATP10A	ORPHA:411515
HP:0031816	Abnormal oral morphology	134218	DNAJC21	OMIM:617052
HP:0031816	Abnormal oral morphology	134218	DNAJC21	ORPHA:811
HP:0031816	Abnormal oral morphology	5970	RELA	OMIM:618287
HP:0031816	Abnormal oral morphology	7128	TNFAIP3	OMIM:616744
HP:0031816	Abnormal oral morphology	4598	MVK	OMIM:260920
HP:0031816	Abnormal oral morphology	6775	STAT4	ORPHA:93552
HP:0031816	Abnormal oral morphology	6775	STAT4	ORPHA:117
HP:0031816	Abnormal oral morphology	6696	SPP1	ORPHA:93552
HP:0031816	Abnormal oral morphology	3654	IRAK1	ORPHA:93552
HP:0031816	Abnormal oral morphology	3575	IL7R	OMIM:608971
HP:0031816	Abnormal oral morphology	3575	IL7R	ORPHA:169154
HP:0031816	Abnormal oral morphology	959	CD40LG	OMIM:308230
HP:0031816	Abnormal oral morphology	64421	DCLRE1C	OMIM:602450
HP:0031816	Abnormal oral morphology	51284	TLR7	OMIM:301080
HP:0031816	Abnormal oral morphology	2672	GFI1	ORPHA:486
HP:0031816	Abnormal oral morphology	6729	SRP54	ORPHA:486
HP:0031816	Abnormal oral morphology	6729	SRP54	ORPHA:811
HP:0031816	Abnormal oral morphology	81570	CLPB	ORPHA:486
HP:0031816	Abnormal oral morphology	6850	SYK	OMIM:619381
HP:0031816	Abnormal oral morphology	2000	ELF4	OMIM:301074
HP:0031816	Abnormal oral morphology	8737	RIPK1	OMIM:618852
HP:0031816	Abnormal oral morphology	939	CD27	OMIM:615122
HP:0031816	Abnormal oral morphology	64127	NOD2	OMIM:617321
HP:0031816	Abnormal oral morphology	79415	CYBC1	OMIM:618935
HP:0031816	Abnormal oral morphology	3587	IL10RA	OMIM:613148
HP:0031816	Abnormal oral morphology	79631	EFL1	ORPHA:811
HP:0031816	Abnormal oral morphology	51119	SBDS	ORPHA:811
HP:0031816	Abnormal oral morphology	149233	IL23R	ORPHA:117
HP:0031816	Abnormal oral morphology	3586	IL10	ORPHA:117
HP:0031816	Abnormal oral morphology	4210	MEFV	ORPHA:117
HP:0031816	Abnormal oral morphology	1230	CCR1	ORPHA:117
HP:0031816	Abnormal oral morphology	355	FAS	ORPHA:117
HP:0031816	Abnormal oral morphology	3592	IL12A	ORPHA:117
HP:0031816	Abnormal oral morphology	101928376	IL12A-AS1	ORPHA:117
HP:0031816	Abnormal oral morphology	3106	HLA-B	ORPHA:117
HP:0031816	Abnormal oral morphology	7099	TLR4	ORPHA:117
HP:0031816	Abnormal oral morphology	3459	IFNGR1	ORPHA:117
HP:0031816	Abnormal oral morphology	720	C4A	ORPHA:117
HP:0031816	Abnormal oral morphology	337867	UBAC2	ORPHA:117
HP:0031816	Abnormal oral morphology	51752	ERAP1	ORPHA:117
HP:0031816	Abnormal oral morphology	8302	KLRC4	ORPHA:117
HP:0031816	Abnormal oral morphology	55670	PEX26	ORPHA:912
HP:0031816	Abnormal oral morphology	5824	PEX19	ORPHA:912
HP:0031816	Abnormal oral morphology	5828	PEX2	ORPHA:912
HP:0031816	Abnormal oral morphology	8504	PEX3	ORPHA:912
HP:0031816	Abnormal oral morphology	8799	PEX11B	ORPHA:912
HP:0031816	Abnormal oral morphology	5830	PEX5	ORPHA:912
HP:0031816	Abnormal oral morphology	5193	PEX12	ORPHA:912
HP:0031816	Abnormal oral morphology	5194	PEX13	ORPHA:912
HP:0031816	Abnormal oral morphology	5195	PEX14	ORPHA:912
HP:0031816	Abnormal oral morphology	5192	PEX10	ORPHA:912
HP:0031816	Abnormal oral morphology	567	B2M	ORPHA:314652
HP:0031816	Abnormal oral morphology	80025	PANK2	ORPHA:216866
HP:0031816	Abnormal oral morphology	11160	ERLIN2	ORPHA:280384
HP:0031816	Abnormal oral morphology	11160	ERLIN2	ORPHA:209951
HP:0031816	Abnormal oral morphology	51422	PRKAG2	OMIM:261740
HP:0031816	Abnormal oral morphology	9158	FIBP	ORPHA:500095
HP:0031816	Abnormal oral morphology	9158	FIBP	OMIM:617107
HP:0031816	Abnormal oral morphology	56623	INPP5E	OMIM:213300
HP:0031816	Abnormal oral morphology	411	ARSB	OMIM:253200
HP:0031816	Abnormal oral morphology	4125	MAN2B1	ORPHA:309282
HP:0031816	Abnormal oral morphology	4125	MAN2B1	ORPHA:309288
HP:0031816	Abnormal oral morphology	4125	MAN2B1	OMIM:248500
HP:0031816	Abnormal oral morphology	7849	PAX8	OMIM:218700
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95720
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95713
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95712
HP:0031816	Abnormal oral morphology	3074	HEXB	OMIM:268800
HP:0031816	Abnormal oral morphology	65082	VPS33A	OMIM:617303
HP:0031816	Abnormal oral morphology	65082	VPS33A	ORPHA:505248
HP:0031816	Abnormal oral morphology	79158	GNPTAB	OMIM:252500
HP:0031816	Abnormal oral morphology	3767	KCNJ11	ORPHA:99886
HP:0031816	Abnormal oral morphology	346171	ZFP57	ORPHA:99886
HP:0031816	Abnormal oral morphology	57061	HYMAI	ORPHA:99886
HP:0031816	Abnormal oral morphology	57061	HYMAI	ORPHA:96191
HP:0031816	Abnormal oral morphology	6833	ABCC8	ORPHA:99886
HP:0031816	Abnormal oral morphology	5325	PLAGL1	ORPHA:99886
HP:0031816	Abnormal oral morphology	5325	PLAGL1	ORPHA:96191
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:90673
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:95720
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:95713
HP:0031816	Abnormal oral morphology	5172	SLC26A4	ORPHA:95720
HP:0031816	Abnormal oral morphology	5172	SLC26A4	ORPHA:95713
HP:0031816	Abnormal oral morphology	7252	TSHB	ORPHA:90674
HP:0031816	Abnormal oral morphology	7252	TSHB	OMIM:275100
HP:0031816	Abnormal oral morphology	10940	POP1	OMIM:617396
HP:0031816	Abnormal oral morphology	405753	DUOXA2	ORPHA:95716
HP:0031816	Abnormal oral morphology	6528	SLC5A5	ORPHA:95716
HP:0031816	Abnormal oral morphology	6528	SLC5A5	OMIM:274400
HP:0031816	Abnormal oral morphology	7038	TG	ORPHA:95716
HP:0031816	Abnormal oral morphology	7173	TPO	ORPHA:95716
HP:0031816	Abnormal oral morphology	389434	IYD	ORPHA:95716
HP:0031816	Abnormal oral morphology	50506	DUOX2	ORPHA:95716
HP:0031816	Abnormal oral morphology	50506	DUOX2	ORPHA:226316
HP:0031816	Abnormal oral morphology	7080	NKX2-1	ORPHA:95713
HP:0031816	Abnormal oral morphology	1482	NKX2-5	ORPHA:95713
HP:0031816	Abnormal oral morphology	1482	NKX2-5	ORPHA:95712
HP:0031816	Abnormal oral morphology	2304	FOXE1	ORPHA:95713
HP:0031816	Abnormal oral morphology	60	ACTB	ORPHA:79107
HP:0031816	Abnormal oral morphology	10483	SEC23B	ORPHA:201
HP:0031816	Abnormal oral morphology	6390	SDHB	ORPHA:201
HP:0031816	Abnormal oral morphology	6392	SDHD	ORPHA:201
HP:0031816	Abnormal oral morphology	6391	SDHC	ORPHA:201
HP:0031816	Abnormal oral morphology	205717	USF3	ORPHA:201
HP:0031816	Abnormal oral morphology	100144748	KLLN	ORPHA:201
HP:0031816	Abnormal oral morphology	112812	FDX2	OMIM:251900
HP:0031816	Abnormal oral morphology	4556	MT-TE	ORPHA:254864
HP:0031816	Abnormal oral morphology	55687	TRMU	ORPHA:254864
HP:0031816	Abnormal oral morphology	7067	THRA	OMIM:614450
HP:0031816	Abnormal oral morphology	3070	HELLS	ORPHA:2268
HP:0031816	Abnormal oral morphology	1789	DNMT3B	ORPHA:2268
HP:0031816	Abnormal oral morphology	1789	DNMT3B	OMIM:242860
HP:0031816	Abnormal oral morphology	83879	CDCA7	ORPHA:2268
HP:0031816	Abnormal oral morphology	9841	ZBTB24	ORPHA:2268
HP:0031816	Abnormal oral morphology	6023	RMRP	OMIM:607095
HP:0031816	Abnormal oral morphology	3425	IDUA	OMIM:607014
HP:0031816	Abnormal oral morphology	3425	IDUA	ORPHA:93473
HP:0031816	Abnormal oral morphology	6445	SGCG	ORPHA:353
HP:0031816	Abnormal oral morphology	2290	FOXG1	ORPHA:261144
HP:0031816	Abnormal oral morphology	57003	CCDC47	OMIM:618268
HP:0031816	Abnormal oral morphology	5626	PROP1	ORPHA:226307
HP:0031816	Abnormal oral morphology	89884	LHX4	ORPHA:226307
HP:0031816	Abnormal oral morphology	8022	LHX3	ORPHA:226307
HP:0031816	Abnormal oral morphology	5449	POU1F1	ORPHA:226307
HP:0031816	Abnormal oral morphology	5449	POU1F1	OMIM:613038
HP:0031816	Abnormal oral morphology	8820	HESX1	ORPHA:226307
HP:0031816	Abnormal oral morphology	51692	CPSF3	OMIM:619876
HP:0031816	Abnormal oral morphology	7337	UBE3A	OMIM:105830
HP:0031816	Abnormal oral morphology	29925	GMPPB	ORPHA:370959
HP:0031816	Abnormal oral morphology	4123	MAN2C1	OMIM:619775
HP:0031816	Abnormal oral morphology	54941	RNF125	OMIM:616260
HP:0031816	Abnormal oral morphology	10020	GNE	OMIM:269921
HP:0031816	Abnormal oral morphology	1028	CDKN1C	OMIM:130650
HP:0031816	Abnormal oral morphology	3784	KCNQ1	OMIM:130650
HP:0031816	Abnormal oral morphology	2990	GUSB	OMIM:253220
HP:0031816	Abnormal oral morphology	55679	LIMS2	OMIM:616827
HP:0031816	Abnormal oral morphology	29929	ALG6	ORPHA:79320
HP:0031816	Abnormal oral morphology	5468	PPARG	ORPHA:528
HP:0031816	Abnormal oral morphology	10555	AGPAT2	ORPHA:528
HP:0031816	Abnormal oral morphology	284119	CAVIN1	ORPHA:528
HP:0031816	Abnormal oral morphology	26580	BSCL2	ORPHA:528
HP:0031816	Abnormal oral morphology	2353	FOS	ORPHA:528
HP:0031816	Abnormal oral morphology	3778	KCNMA1	OMIM:618729
HP:0031816	Abnormal oral morphology	79053	ALG8	ORPHA:79325
HP:0031816	Abnormal oral morphology	54453	RIN2	ORPHA:217335
HP:0031816	Abnormal oral morphology	25970	SH2B1	ORPHA:261222
HP:0031816	Abnormal oral morphology	894	CCND2	ORPHA:83473
HP:0031816	Abnormal oral morphology	5296	PIK3R2	ORPHA:83473
HP:0031816	Abnormal oral morphology	10000	AKT3	ORPHA:83473
HP:0031816	Abnormal oral morphology	775	CACNA1C	OMIM:620029
HP:0031816	Abnormal oral morphology	2720	GLB1	OMIM:230600
HP:0031816	Abnormal oral morphology	5077	PAX3	ORPHA:1529
HP:0031816	Abnormal oral morphology	4774	NFIA	OMIM:613735
HP:0031816	Abnormal oral morphology	5447	POR	ORPHA:95699
HP:0031816	Abnormal oral morphology	4312	MMP1	ORPHA:79408
HP:0031816	Abnormal oral morphology	4312	MMP1	OMIM:226600
HP:0031816	Abnormal oral morphology	1294	COL7A1	ORPHA:79408
HP:0031816	Abnormal oral morphology	1294	COL7A1	OMIM:226600
HP:0031816	Abnormal oral morphology	1294	COL7A1	ORPHA:89842
HP:0031816	Abnormal oral morphology	613	BCR	ORPHA:261330
HP:0031816	Abnormal oral morphology	1399	CRKL	ORPHA:261330
HP:0031816	Abnormal oral morphology	5594	MAPK1	ORPHA:261330
HP:0031816	Abnormal oral morphology	89910	UBE3B	OMIM:244450
HP:0031816	Abnormal oral morphology	51506	UFC1	OMIM:618076
HP:0031816	Abnormal oral morphology	4010	LMX1B	ORPHA:495818
HP:0031816	Abnormal oral morphology	6812	STXBP1	ORPHA:495818
HP:0031816	Abnormal oral morphology	341640	FREM2	OMIM:617666
HP:0031816	Abnormal oral morphology	25914	RTTN	OMIM:614833
HP:0031816	Abnormal oral morphology	25914	RTTN	ORPHA:468631
HP:0031816	Abnormal oral morphology	10084	PQBP1	ORPHA:93946
HP:0031816	Abnormal oral morphology	10084	PQBP1	OMIM:309500
HP:0031816	Abnormal oral morphology	6662	SOX9	OMIM:114290
HP:0031816	Abnormal oral morphology	28960	DCPS	OMIM:616459
HP:0031816	Abnormal oral morphology	9723	SEMA3E	ORPHA:138
HP:0031816	Abnormal oral morphology	9382	COG1	OMIM:611209
HP:0031816	Abnormal oral morphology	9382	COG1	ORPHA:263508
HP:0031816	Abnormal oral morphology	1146	CHRNG	OMIM:265000
HP:0031816	Abnormal oral morphology	113189	CHST14	ORPHA:2953
HP:0031816	Abnormal oral morphology	113189	CHST14	OMIM:601776
HP:0031816	Abnormal oral morphology	29940	DSE	ORPHA:2953
HP:0031816	Abnormal oral morphology	29940	DSE	OMIM:615539
HP:0031816	Abnormal oral morphology	55681	SCYL2	OMIM:618766
HP:0031816	Abnormal oral morphology	55699	IARS2	ORPHA:436174
HP:0031816	Abnormal oral morphology	55699	IARS2	OMIM:616007
HP:0031816	Abnormal oral morphology	4604	MYBPC1	OMIM:618524
HP:0031816	Abnormal oral morphology	4604	MYBPC1	ORPHA:1146
HP:0031816	Abnormal oral morphology	857	CAV1	OMIM:606721
HP:0031816	Abnormal oral morphology	64919	BCL11B	OMIM:618092
HP:0031816	Abnormal oral morphology	5424	POLD1	OMIM:615381
HP:0031816	Abnormal oral morphology	4174	MCM5	OMIM:617564
HP:0031816	Abnormal oral morphology	23327	NEDD4L	OMIM:617201
HP:0031816	Abnormal oral morphology	657	BMPR1A	ORPHA:79076
HP:0031816	Abnormal oral morphology	10801	SEPTIN9	OMIM:162100
HP:0031816	Abnormal oral morphology	10801	SEPTIN9	ORPHA:2901
HP:0031816	Abnormal oral morphology	4593	MUSK	OMIM:208150
HP:0031816	Abnormal oral morphology	7862	BRPF1	OMIM:617333
HP:0031816	Abnormal oral morphology	5048	PAFAH1B1	ORPHA:217385
HP:0031816	Abnormal oral morphology	7531	YWHAE	ORPHA:217385
HP:0031816	Abnormal oral morphology	5590	PRKCZ	ORPHA:1606
HP:0031816	Abnormal oral morphology	2563	GABRD	ORPHA:1606
HP:0031816	Abnormal oral morphology	23013	SPEN	ORPHA:1606
HP:0031816	Abnormal oral morphology	8510	MMP23B	ORPHA:1606
HP:0031816	Abnormal oral morphology	7798	LUZP1	ORPHA:1606
HP:0031816	Abnormal oral morphology	10630	PDPN	ORPHA:1606
HP:0031816	Abnormal oral morphology	10277	UBE4B	ORPHA:1606
HP:0031816	Abnormal oral morphology	8514	KCNAB2	ORPHA:1606
HP:0031816	Abnormal oral morphology	63976	PRDM16	ORPHA:1606
HP:0031816	Abnormal oral morphology	54897	CASZ1	ORPHA:1606
HP:0031816	Abnormal oral morphology	6134	RPL10	ORPHA:459070
HP:0031816	Abnormal oral morphology	6134	RPL10	OMIM:300998
HP:0031816	Abnormal oral morphology	3675	ITGA3	OMIM:614748
HP:0031816	Abnormal oral morphology	145258	GSC	OMIM:602471
HP:0031816	Abnormal oral morphology	55027	HEATR3	OMIM:620072
HP:0031816	Abnormal oral morphology	54928	BPNT2	OMIM:614078
HP:0031816	Abnormal oral morphology	7140	TNNT3	OMIM:618435
HP:0031816	Abnormal oral morphology	7140	TNNT3	ORPHA:1146
HP:0031816	Abnormal oral morphology	8642	DCHS1	ORPHA:314679
HP:0031816	Abnormal oral morphology	5832	ALDH18A1	OMIM:219150
HP:0031816	Abnormal oral morphology	84919	PPP1R15B	OMIM:616817
HP:0031816	Abnormal oral morphology	84919	PPP1R15B	ORPHA:391408
HP:0031816	Abnormal oral morphology	91949	COG7	ORPHA:79333
HP:0031816	Abnormal oral morphology	91949	COG7	OMIM:608779
HP:0031816	Abnormal oral morphology	124583	CANT1	OMIM:251450
HP:0031816	Abnormal oral morphology	2556	GABRA3	OMIM:301091
HP:0031816	Abnormal oral morphology	23162	MAPK8IP3	OMIM:618443
HP:0031816	Abnormal oral morphology	4193	MDM2	OMIM:618681
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:1146
HP:0031816	Abnormal oral morphology	7169	TPM2	OMIM:108120
HP:0031816	Abnormal oral morphology	7136	TNNI2	ORPHA:1146
HP:0031816	Abnormal oral morphology	7136	TNNI2	OMIM:601680
HP:0031816	Abnormal oral morphology	7994	KAT6A	OMIM:616268
HP:0031816	Abnormal oral morphology	8621	CDK13	OMIM:617360
HP:0031816	Abnormal oral morphology	55212	BBS7	OMIM:615984
HP:0031816	Abnormal oral morphology	6878	TAF6	OMIM:617126
HP:0031816	Abnormal oral morphology	55217	TMLHE	OMIM:300872
HP:0031816	Abnormal oral morphology	5396	PRRX1	OMIM:202650
HP:0031816	Abnormal oral morphology	5396	PRRX1	ORPHA:990
HP:0031816	Abnormal oral morphology	4703	NEB	OMIM:256030
HP:0031816	Abnormal oral morphology	7473	WNT3	ORPHA:3301
HP:0031816	Abnormal oral morphology	340419	RSPO2	ORPHA:3301
HP:0031816	Abnormal oral morphology	221496	LEMD2	OMIM:619322
HP:0031816	Abnormal oral morphology	650	BMP2	ORPHA:261295
HP:0031816	Abnormal oral morphology	91179	SCARF2	OMIM:600920
HP:0031816	Abnormal oral morphology	10982	MAPRE2	OMIM:616734
HP:0031816	Abnormal oral morphology	56975	FAM20C	OMIM:259775
HP:0031816	Abnormal oral morphology	51132	RLIM	OMIM:300978
HP:0031816	Abnormal oral morphology	22930	RAB3GAP1	OMIM:600118
HP:0031816	Abnormal oral morphology	9325	TRIP4	OMIM:616866
HP:0031816	Abnormal oral morphology	6045	RNF2	OMIM:619460
HP:0031816	Abnormal oral morphology	9496	TBX4	ORPHA:261279
HP:0031816	Abnormal oral morphology	5277	PIGA	OMIM:300868
HP:0031816	Abnormal oral morphology	128637	TBC1D20	OMIM:615663
HP:0031816	Abnormal oral morphology	55210	ATAD3A	OMIM:618810
HP:0031816	Abnormal oral morphology	9244	CRLF1	OMIM:272430
HP:0031816	Abnormal oral morphology	9244	CRLF1	ORPHA:1545
HP:0031816	Abnormal oral morphology	29980	DONSON	OMIM:251230
HP:0031816	Abnormal oral morphology	5015	OTX2	ORPHA:990
HP:0031816	Abnormal oral morphology	80152	CENPT	OMIM:618702
HP:0031816	Abnormal oral morphology	23545	ATP6V0A2	OMIM:219200
HP:0031816	Abnormal oral morphology	203068	TUBB	OMIM:156610
HP:0031816	Abnormal oral morphology	9702	CEP57	OMIM:614114
HP:0031816	Abnormal oral morphology	57570	TRMT5	OMIM:616539
HP:0031816	Abnormal oral morphology	93587	TRMT10A	ORPHA:391408
HP:0031816	Abnormal oral morphology	2186	BPTF	OMIM:617755
HP:0031816	Abnormal oral morphology	203190	LGI3	OMIM:620007
HP:0031816	Abnormal oral morphology	23529	CLCF1	ORPHA:1545
HP:0031816	Abnormal oral morphology	11011	TLK2	OMIM:618050
HP:0031816	Abnormal oral morphology	9469	CHST3	OMIM:245600
HP:0031816	Abnormal oral morphology	26229	B3GAT3	OMIM:245600
HP:0031816	Abnormal oral morphology	55553	SOX6	OMIM:618971
HP:0031816	Abnormal oral morphology	3735	KARS1	OMIM:619147
HP:0031816	Abnormal oral morphology	221692	PHACTR1	OMIM:618298
HP:0031816	Abnormal oral morphology	529	ATP6V1E1	OMIM:617402
HP:0031816	Abnormal oral morphology	5290	PIK3CA	OMIM:615108
HP:0031816	Abnormal oral morphology	3480	IGF1R	OMIM:270450
HP:0031816	Abnormal oral morphology	121340	SP7	OMIM:613849
HP:0031816	Abnormal oral morphology	57724	EPG5	OMIM:242840
HP:0031816	Abnormal oral morphology	81788	NUAK2	OMIM:619452
HP:0031816	Abnormal oral morphology	6608	SMO	OMIM:241800
HP:0031816	Abnormal oral morphology	257	ALX3	OMIM:136760
HP:0031816	Abnormal oral morphology	22858	CILK1	OMIM:612651
HP:0031816	Abnormal oral morphology	27152	INTU	OMIM:617926
HP:0031816	Abnormal oral morphology	695	BTK	ORPHA:47
HP:0031816	Abnormal oral morphology	1909	EDNRA	OMIM:616367
HP:0031816	Abnormal oral morphology	347734	SLC35B2	OMIM:620269
HP:0031816	Abnormal oral morphology	27125	AFF4	ORPHA:444077
HP:0031816	Abnormal oral morphology	23114	NFASC	OMIM:618356
HP:0031816	Abnormal oral morphology	9409	PEX16	OMIM:614876
HP:0031816	Abnormal oral morphology	389827	MYMK	OMIM:254940
HP:0031816	Abnormal oral morphology	389827	MYMK	ORPHA:1358
HP:0031816	Abnormal oral morphology	1493	CTLA4	ORPHA:900
HP:0031816	Abnormal oral morphology	26191	PTPN22	ORPHA:900
HP:0031816	Abnormal oral morphology	3115	HLA-DPB1	ORPHA:900
HP:0031816	Abnormal oral morphology	5657	PRTN3	ORPHA:900
HP:0031816	Abnormal oral morphology	3113	HLA-DPA1	ORPHA:900
HP:0031816	Abnormal oral morphology	79092	CARD14	ORPHA:2897
HP:0031816	Abnormal oral morphology	7421	VDR	ORPHA:93160
HP:0031816	Abnormal oral morphology	4621	MYH3	ORPHA:2053
HP:0031816	Abnormal oral morphology	259232	NALCN	ORPHA:2053
HP:0031816	Abnormal oral morphology	1947	EFNB1	ORPHA:1520
HP:0031816	Abnormal oral morphology	1947	EFNB1	OMIM:304110
HP:0031816	Abnormal oral morphology	3891	KRT85	OMIM:602032
HP:0031816	Abnormal oral morphology	1161	ERCC8	ORPHA:90321
HP:0031816	Abnormal oral morphology	2072	ERCC4	ORPHA:90321
HP:0031816	Abnormal oral morphology	2072	ERCC4	ORPHA:910
HP:0031816	Abnormal oral morphology	2074	ERCC6	ORPHA:90321
HP:0031816	Abnormal oral morphology	29072	SETD2	ORPHA:821
HP:0031816	Abnormal oral morphology	249	ALPL	OMIM:241500
HP:0031816	Abnormal oral morphology	121391	KRT74	OMIM:613981
HP:0031816	Abnormal oral morphology	121391	KRT74	ORPHA:90368
HP:0031816	Abnormal oral morphology	121391	KRT74	OMIM:614929
HP:0031816	Abnormal oral morphology	5818	NECTIN1	ORPHA:3253
HP:0031816	Abnormal oral morphology	7015	TERT	OMIM:613989
HP:0031816	Abnormal oral morphology	7015	TERT	ORPHA:1775
HP:0031816	Abnormal oral morphology	112752	IFT43	ORPHA:1515
HP:0031816	Abnormal oral morphology	51098	IFT52	ORPHA:1515
HP:0031816	Abnormal oral morphology	55764	IFT122	ORPHA:1515
HP:0031816	Abnormal oral morphology	57728	WDR19	ORPHA:1515
HP:0031816	Abnormal oral morphology	7298	TYMS	OMIM:620040
HP:0031816	Abnormal oral morphology	7298	TYMS	ORPHA:1775
HP:0031816	Abnormal oral morphology	54345	SOX18	OMIM:607823
HP:0031816	Abnormal oral morphology	191	AHCY	OMIM:613752
HP:0031816	Abnormal oral morphology	191	AHCY	ORPHA:88618
HP:0031816	Abnormal oral morphology	5339	PLEC	ORPHA:79401
HP:0031816	Abnormal oral morphology	81848	SPRY4	OMIM:615266
HP:0031816	Abnormal oral morphology	81848	SPRY4	ORPHA:432
HP:0031816	Abnormal oral morphology	1848	DUSP6	OMIM:615269
HP:0031816	Abnormal oral morphology	1848	DUSP6	ORPHA:432
HP:0031816	Abnormal oral morphology	54756	IL17RD	OMIM:615267
HP:0031816	Abnormal oral morphology	23461	ABCA5	ORPHA:2026
HP:0031816	Abnormal oral morphology	4853	NOTCH2	ORPHA:955
HP:0031816	Abnormal oral morphology	4053	LTBP2	OMIM:251750
HP:0031816	Abnormal oral morphology	3981	LIG4	ORPHA:235
HP:0031816	Abnormal oral morphology	54888	NSUN2	ORPHA:235
HP:0031816	Abnormal oral morphology	10804	GJB6	ORPHA:477
HP:0031816	Abnormal oral morphology	10804	GJB6	OMIM:129500
HP:0031816	Abnormal oral morphology	2706	GJB2	ORPHA:477
HP:0031816	Abnormal oral morphology	3043	HBB	ORPHA:231214
HP:0031816	Abnormal oral morphology	3043	HBB	ORPHA:231226
HP:0031816	Abnormal oral morphology	6774	STAT3	OMIM:615952
HP:0031816	Abnormal oral morphology	6774	STAT3	ORPHA:2314
HP:0031816	Abnormal oral morphology	1041	CDSN	ORPHA:90368
HP:0031816	Abnormal oral morphology	1041	CDSN	OMIM:146520
HP:0031816	Abnormal oral morphology	4803	NGF	ORPHA:64752
HP:0031816	Abnormal oral morphology	5189	PEX1	ORPHA:3220
HP:0031816	Abnormal oral morphology	5190	PEX6	ORPHA:3220
HP:0031816	Abnormal oral morphology	79228	THOC6	ORPHA:363444
HP:0031816	Abnormal oral morphology	9533	POLR1C	OMIM:616494
HP:0031816	Abnormal oral morphology	9533	POLR1C	ORPHA:861
HP:0031816	Abnormal oral morphology	4982	TNFRSF11B	ORPHA:2801
HP:0031816	Abnormal oral morphology	11128	POLR3A	ORPHA:3455
HP:0031816	Abnormal oral morphology	11107	PRDM5	ORPHA:90354
HP:0031816	Abnormal oral morphology	84627	ZNF469	ORPHA:90354
HP:0031816	Abnormal oral morphology	3481	IGF2	ORPHA:2128
HP:0031816	Abnormal oral morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0031816	Abnormal oral morphology	283120	H19	ORPHA:2128
HP:0031816	Abnormal oral morphology	5308	PITX2	OMIM:137600
HP:0031816	Abnormal oral morphology	3977	LIFR	ORPHA:3206
HP:0031816	Abnormal oral morphology	3930	LBR	OMIM:169400
HP:0031816	Abnormal oral morphology	1832	DSP	OMIM:612908
HP:0031816	Abnormal oral morphology	1186	CLCN7	ORPHA:53
HP:0031816	Abnormal oral morphology	1186	CLCN7	ORPHA:210110
HP:0031816	Abnormal oral morphology	60529	ALX4	ORPHA:228390
HP:0031816	Abnormal oral morphology	585	BBS4	OMIM:615982
HP:0031816	Abnormal oral morphology	4212	MEIS2	ORPHA:261190
HP:0031816	Abnormal oral morphology	2245	FGD1	ORPHA:915
HP:0031816	Abnormal oral morphology	4204	MECP2	OMIM:312750
HP:0031816	Abnormal oral morphology	7189	TRAF6	ORPHA:1810
HP:0031816	Abnormal oral morphology	126695	KDF1	ORPHA:1810
HP:0031816	Abnormal oral morphology	10913	EDAR	ORPHA:1810
HP:0031816	Abnormal oral morphology	2068	ERCC2	ORPHA:910
HP:0031816	Abnormal oral morphology	7507	XPA	ORPHA:910
HP:0031816	Abnormal oral morphology	2071	ERCC3	ORPHA:910
HP:0031816	Abnormal oral morphology	7508	XPC	ORPHA:910
HP:0031816	Abnormal oral morphology	1643	DDB2	ORPHA:910
HP:0031816	Abnormal oral morphology	2073	ERCC5	ORPHA:910
HP:0031816	Abnormal oral morphology	64132	XYLT2	OMIM:605822
HP:0031816	Abnormal oral morphology	128674	PROKR2	ORPHA:432
HP:0031816	Abnormal oral morphology	60675	PROK2	ORPHA:432
HP:0031816	Abnormal oral morphology	55636	CHD7	ORPHA:432
HP:0031816	Abnormal oral morphology	6870	TACR3	ORPHA:432
HP:0031816	Abnormal oral morphology	26012	NSMF	ORPHA:432
HP:0031816	Abnormal oral morphology	55717	WDR11	ORPHA:432
HP:0031816	Abnormal oral morphology	9394	HS6ST1	ORPHA:432
HP:0031816	Abnormal oral morphology	2796	GNRH1	ORPHA:432
HP:0031816	Abnormal oral morphology	2798	GNRHR	ORPHA:432
HP:0031816	Abnormal oral morphology	84634	KISS1R	ORPHA:432
HP:0031816	Abnormal oral morphology	6866	TAC3	ORPHA:432
HP:0031816	Abnormal oral morphology	8822	FGF17	ORPHA:432
HP:0031816	Abnormal oral morphology	3814	KISS1	ORPHA:432
HP:0031816	Abnormal oral morphology	147495	APCDD1	OMIM:605389
HP:0031816	Abnormal oral morphology	2335	FN1	ORPHA:93315
HP:0031816	Abnormal oral morphology	9150	CTDP1	OMIM:604168
HP:0031816	Abnormal oral morphology	113179	ADAT3	ORPHA:363528
HP:0031816	Abnormal oral morphology	23586	RIGI	OMIM:616298
HP:0031816	Abnormal oral morphology	9342	SNAP29	ORPHA:66631
HP:0031816	Abnormal oral morphology	6144	RPL21	OMIM:615885
HP:0031816	Abnormal oral morphology	55784	MCTP2	ORPHA:1596
HP:0031816	Abnormal oral morphology	1825	DSC3	OMIM:613102
HP:0031816	Abnormal oral morphology	162514	TRPV3	ORPHA:659
HP:0031816	Abnormal oral morphology	10651	MTX2	ORPHA:90153
HP:0031816	Abnormal oral morphology	51114	ZDHHC9	ORPHA:776
HP:0031816	Abnormal oral morphology	65109	UPF3B	ORPHA:776
HP:0031816	Abnormal oral morphology	147409	DSG4	ORPHA:573
HP:0031816	Abnormal oral morphology	3892	KRT86	ORPHA:573
HP:0031816	Abnormal oral morphology	3889	KRT83	ORPHA:573
HP:0031816	Abnormal oral morphology	3889	KRT83	OMIM:617756
HP:0031816	Abnormal oral morphology	3887	KRT81	ORPHA:573
HP:0031816	Abnormal oral morphology	55603	TENT5A	OMIM:617952
HP:0031816	Abnormal oral morphology	92344	GORAB	OMIM:231070
HP:0031816	Abnormal oral morphology	1312	COMT	ORPHA:567
HP:0031816	Abnormal oral morphology	221037	JMJD1C	ORPHA:567
HP:0031816	Abnormal oral morphology	2812	GP1BB	ORPHA:567
HP:0031816	Abnormal oral morphology	6239	RREB1	ORPHA:567
HP:0031816	Abnormal oral morphology	7290	HIRA	ORPHA:567
HP:0031816	Abnormal oral morphology	9632	SEC24C	ORPHA:567
HP:0031816	Abnormal oral morphology	7353	UFD1	ORPHA:567
HP:0031816	Abnormal oral morphology	421	ARVCF	ORPHA:567
HP:0031816	Abnormal oral morphology	197131	UBR1	ORPHA:2315
HP:0031816	Abnormal oral morphology	1001	CDH3	OMIM:601553
HP:0031816	Abnormal oral morphology	7703	PCGF2	OMIM:618371
HP:0031816	Abnormal oral morphology	8985	PLOD3	OMIM:612394
HP:0031816	Abnormal oral morphology	151516	ASPRV1	ORPHA:313
HP:0031816	Abnormal oral morphology	242	ALOX12B	ORPHA:313
HP:0031816	Abnormal oral morphology	126410	CYP4F22	ORPHA:313
HP:0031816	Abnormal oral morphology	6820	SULT2B1	ORPHA:313
HP:0031816	Abnormal oral morphology	26154	ABCA12	ORPHA:313
HP:0031816	Abnormal oral morphology	643418	LIPN	ORPHA:313
HP:0031816	Abnormal oral morphology	59344	ALOXE3	ORPHA:313
HP:0031816	Abnormal oral morphology	348938	NIPAL4	ORPHA:313
HP:0031816	Abnormal oral morphology	121214	SDR9C7	ORPHA:313
HP:0031816	Abnormal oral morphology	7051	TGM1	ORPHA:313
HP:0031816	Abnormal oral morphology	1075	CTSC	ORPHA:678
HP:0031816	Abnormal oral morphology	80185	TTI2	ORPHA:391307
HP:0031816	Abnormal oral morphology	10312	TCIRG1	ORPHA:210110
HP:0031816	Abnormal oral morphology	9842	PLEKHM1	ORPHA:210110
HP:0031816	Abnormal oral morphology	200879	LIPH	OMIM:604379
HP:0031816	Abnormal oral morphology	29957	SLC25A24	ORPHA:2095
HP:0031816	Abnormal oral morphology	64840	PORCN	ORPHA:2092
HP:0031816	Abnormal oral morphology	79574	EPS8L3	OMIM:612841
HP:0031816	Abnormal oral morphology	4796	TONSL	OMIM:271510
HP:0031816	Abnormal oral morphology	189	AGXT	ORPHA:93598
HP:0031816	Abnormal oral morphology	84172	POLR1B	ORPHA:861
HP:0031816	Abnormal oral morphology	51082	POLR1D	ORPHA:861
HP:0031816	Abnormal oral morphology	79983	POF1B	OMIM:300604
HP:0031816	Abnormal oral morphology	7204	TRIO	ORPHA:476126
HP:0031816	Abnormal oral morphology	10161	LPAR6	OMIM:278150
HP:0031816	Abnormal oral morphology	60681	FKBP10	OMIM:259450
HP:0031816	Abnormal oral morphology	4014	LORICRIN	OMIM:604117
HP:0031816	Abnormal oral morphology	4094	MAF	OMIM:601088
HP:0031816	Abnormal oral morphology	84905	ZNF341	OMIM:618282
HP:0031816	Abnormal oral morphology	5295	PIK3R1	ORPHA:3163
HP:0031816	Abnormal oral morphology	89970	RSPRY1	ORPHA:457395
HP:0031816	Abnormal oral morphology	23592	LEMD3	ORPHA:1306
HP:0031816	Abnormal oral morphology	5286	PIK3C2A	ORPHA:557003
HP:0031816	Abnormal oral morphology	23309	SIN3B	ORPHA:500166
HP:0031816	Abnormal oral morphology	65057	ACD	OMIM:616553
HP:0031816	Abnormal oral morphology	80169	CTC1	ORPHA:1775
HP:0031816	Abnormal oral morphology	26277	TINF2	ORPHA:1775
HP:0031816	Abnormal oral morphology	55651	NHP2	ORPHA:1775
HP:0031816	Abnormal oral morphology	79650	USB1	ORPHA:1775
HP:0031816	Abnormal oral morphology	55135	WRAP53	ORPHA:1775
HP:0031816	Abnormal oral morphology	51750	RTEL1	ORPHA:1775
HP:0031816	Abnormal oral morphology	4869	NPM1	ORPHA:1775
HP:0031816	Abnormal oral morphology	7012	TERC	ORPHA:1775
HP:0031816	Abnormal oral morphology	55505	NOP10	ORPHA:1775
HP:0031816	Abnormal oral morphology	5073	PARN	ORPHA:1775
HP:0031816	Abnormal oral morphology	1736	DKC1	ORPHA:1775
HP:0031816	Abnormal oral morphology	157657	CFAP418	OMIM:617406
HP:0031816	Abnormal oral morphology	3229	HOXC13	OMIM:614931
HP:0031816	Abnormal oral morphology	51002	TPRKB	ORPHA:2065
HP:0031816	Abnormal oral morphology	84942	WDR73	ORPHA:2065
HP:0031816	Abnormal oral morphology	55644	OSGEP	ORPHA:2065
HP:0031816	Abnormal oral morphology	57122	NUP107	ORPHA:2065
HP:0031816	Abnormal oral morphology	10785	WDR4	ORPHA:2065
HP:0031816	Abnormal oral morphology	55746	NUP133	ORPHA:2065
HP:0031816	Abnormal oral morphology	112858	TP53RK	ORPHA:2065
HP:0031816	Abnormal oral morphology	8270	LAGE3	ORPHA:2065
HP:0031816	Abnormal oral morphology	3852	KRT5	ORPHA:79397
HP:0031816	Abnormal oral morphology	3852	KRT5	ORPHA:79399
HP:0031816	Abnormal oral morphology	25886	POC1A	OMIM:614813
HP:0031816	Abnormal oral morphology	4322	MMP13	ORPHA:2501
HP:0031816	Abnormal oral morphology	64682	ANAPC1	ORPHA:221008
HP:0031816	Abnormal oral morphology	847	CAT	ORPHA:926
HP:0031816	Abnormal oral morphology	7852	CXCR4	ORPHA:51636
HP:0031816	Abnormal oral morphology	4221	MEN1	ORPHA:652
HP:0031816	Abnormal oral morphology	1027	CDKN1B	ORPHA:652
HP:0031816	Abnormal oral morphology	1026	CDKN1A	ORPHA:652
HP:0031816	Abnormal oral morphology	1030	CDKN2B	ORPHA:652
HP:0031816	Abnormal oral morphology	1031	CDKN2C	ORPHA:652
HP:0031816	Abnormal oral morphology	5159	PDGFRB	ORPHA:2591
HP:0031816	Abnormal oral morphology	118429	ANTXR2	OMIM:228600
HP:0031816	Abnormal oral morphology	118429	ANTXR2	ORPHA:2028
HP:0031816	Abnormal oral morphology	7249	TSC2	OMIM:613254
HP:0031816	Abnormal oral morphology	3458	IFNG	OMIM:613254
HP:0031816	Abnormal oral morphology	5978	REST	ORPHA:2024
HP:0031816	Abnormal oral morphology	5978	REST	OMIM:617626
HP:0031816	Abnormal oral morphology	7248	TSC1	OMIM:191100
HP:0031816	Abnormal oral morphology	84823	LMNB2	OMIM:616540
HP:0031816	Abnormal oral morphology	5932	RBBP8	OMIM:606744
HP:0031816	Abnormal oral morphology	4591	TRIM37	OMIM:253250
HP:0031816	Abnormal oral morphology	123606	NIPA1	ORPHA:261183
HP:0031816	Abnormal oral morphology	7283	TUBG1	ORPHA:261183
HP:0031816	Abnormal oral morphology	81614	NIPA2	ORPHA:261183
HP:0031816	Abnormal oral morphology	1303	COL12A1	ORPHA:75840
HP:0031816	Abnormal oral morphology	1291	COL6A1	ORPHA:75840
HP:0031816	Abnormal oral morphology	1292	COL6A2	ORPHA:75840
HP:0031816	Abnormal oral morphology	1293	COL6A3	ORPHA:75840
HP:0031816	Abnormal oral morphology	114548	NLRP3	ORPHA:575
HP:0031816	Abnormal oral morphology	538	ATP7A	ORPHA:565
HP:0031816	Abnormal oral morphology	2313	FLI1	ORPHA:2308
HP:0031816	Abnormal oral morphology	10617	STAMBP	OMIM:614261
HP:0031816	Abnormal oral morphology	91452	ACBD5	OMIM:618863
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:56304
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:628
HP:0031816	Abnormal oral morphology	1836	SLC26A2	OMIM:256050
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:93307
HP:0031816	Abnormal oral morphology	1836	SLC26A2	OMIM:222600
HP:0031816	Abnormal oral morphology	267010	RNU12	OMIM:603116
HP:0031816	Abnormal oral morphology	1739	DLG1	ORPHA:199306
HP:0031816	Abnormal oral morphology	999	CDH1	ORPHA:199306
HP:0031816	Abnormal oral morphology	999	CDH1	OMIM:137215
HP:0031816	Abnormal oral morphology	5156	PDGFRA	ORPHA:199306
HP:0031816	Abnormal oral morphology	9411	ARHGAP29	ORPHA:199306
HP:0031816	Abnormal oral morphology	1748	DLX4	ORPHA:199306
HP:0031816	Abnormal oral morphology	1723	DHODH	OMIM:263750
HP:0031816	Abnormal oral morphology	1723	DHODH	ORPHA:246
HP:0031816	Abnormal oral morphology	2782	GNB1	ORPHA:488613
HP:0031816	Abnormal oral morphology	2782	GNB1	OMIM:616973
HP:0031816	Abnormal oral morphology	23322	RPGRIP1L	ORPHA:220497
HP:0031816	Abnormal oral morphology	23322	RPGRIP1L	ORPHA:564
HP:0031816	Abnormal oral morphology	23322	RPGRIP1L	OMIM:611561
HP:0031816	Abnormal oral morphology	4867	NPHP1	ORPHA:220497
HP:0031816	Abnormal oral morphology	84466	MEGF10	OMIM:614399
HP:0031816	Abnormal oral morphology	126792	B3GALT6	ORPHA:2725
HP:0031816	Abnormal oral morphology	126792	B3GALT6	OMIM:271640
HP:0031816	Abnormal oral morphology	126792	B3GALT6	ORPHA:93359
HP:0031816	Abnormal oral morphology	126792	B3GALT6	OMIM:615349
HP:0031816	Abnormal oral morphology	72	ACTG2	ORPHA:2604
HP:0031816	Abnormal oral morphology	95681	CEP41	ORPHA:220493
HP:0031816	Abnormal oral morphology	51684	SUFU	ORPHA:280200
HP:0031816	Abnormal oral morphology	10584	COLEC10	OMIM:248340
HP:0031816	Abnormal oral morphology	25885	POLR1A	OMIM:616462
HP:0031816	Abnormal oral morphology	5191	PEX7	OMIM:215100
HP:0031816	Abnormal oral morphology	26057	ANKRD17	OMIM:619504
HP:0031816	Abnormal oral morphology	57167	SALL4	ORPHA:233
HP:0031816	Abnormal oral morphology	9935	MAFB	ORPHA:233
HP:0031816	Abnormal oral morphology	1123	CHN1	ORPHA:233
HP:0031816	Abnormal oral morphology	79659	DYNC2H1	OMIM:613091
HP:0031816	Abnormal oral morphology	1349	COX7B	OMIM:309801
HP:0031816	Abnormal oral morphology	3052	HCCS	OMIM:309801
HP:0031816	Abnormal oral morphology	54539	NDUFB11	OMIM:309801
HP:0031816	Abnormal oral morphology	8516	ITGA8	ORPHA:1848
HP:0031816	Abnormal oral morphology	26281	FGF20	ORPHA:1848
HP:0031816	Abnormal oral morphology	2674	GFRA1	ORPHA:1848
HP:0031816	Abnormal oral morphology	7484	WNT9B	ORPHA:1848
HP:0031816	Abnormal oral morphology	80000	GREB1L	ORPHA:1848
HP:0031816	Abnormal oral morphology	5925	RB1	OMIM:180200
HP:0031816	Abnormal oral morphology	147912	SIX5	ORPHA:107
HP:0031816	Abnormal oral morphology	1749	DLX5	OMIM:183600
HP:0031816	Abnormal oral morphology	55120	FANCL	OMIM:614083
HP:0031816	Abnormal oral morphology	55120	FANCL	ORPHA:84
HP:0031816	Abnormal oral morphology	9319	TRIP13	OMIM:617598
HP:0031816	Abnormal oral morphology	9319	TRIP13	ORPHA:1052
HP:0031816	Abnormal oral morphology	25836	NIPBL	OMIM:122470
HP:0031816	Abnormal oral morphology	25836	NIPBL	ORPHA:199
HP:0031816	Abnormal oral morphology	2303	FOXC2	ORPHA:33001
HP:0031816	Abnormal oral morphology	2303	FOXC2	OMIM:153400
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:272460
HP:0031816	Abnormal oral morphology	2317	FLNB	ORPHA:503
HP:0031816	Abnormal oral morphology	2317	FLNB	ORPHA:1190
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:108721
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:108720
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:150250
HP:0031816	Abnormal oral morphology	54361	WNT4	OMIM:611812
HP:0031816	Abnormal oral morphology	54361	WNT4	ORPHA:247768
HP:0031816	Abnormal oral morphology	10262	SF3B4	ORPHA:245
HP:0031816	Abnormal oral morphology	10262	SF3B4	OMIM:154400
HP:0031816	Abnormal oral morphology	8295	TRRAP	OMIM:618454
HP:0031816	Abnormal oral morphology	29968	PSAT1	OMIM:616038
HP:0031816	Abnormal oral morphology	3736	KCNA1	ORPHA:1934
HP:0031816	Abnormal oral morphology	9091	PIGQ	ORPHA:1934
HP:0031816	Abnormal oral morphology	2775	GNAO1	ORPHA:1934
HP:0031816	Abnormal oral morphology	81603	TRIM8	ORPHA:1934
HP:0031816	Abnormal oral morphology	2902	GRIN1	ORPHA:1934
HP:0031816	Abnormal oral morphology	79751	SLC25A22	ORPHA:1934
HP:0031816	Abnormal oral morphology	150094	SIK1	ORPHA:1934
HP:0031816	Abnormal oral morphology	8573	CASK	ORPHA:1934
HP:0031816	Abnormal oral morphology	23312	DMXL2	ORPHA:1934
HP:0031816	Abnormal oral morphology	2917	GRM7	ORPHA:1934
HP:0031816	Abnormal oral morphology	11284	PNKP	ORPHA:1934
HP:0031816	Abnormal oral morphology	6326	SCN2A	ORPHA:1934
HP:0031816	Abnormal oral morphology	51227	PIGP	ORPHA:1934
HP:0031816	Abnormal oral morphology	6324	SCN1B	ORPHA:1934
HP:0031816	Abnormal oral morphology	4761	NEUROD2	ORPHA:1934
HP:0031816	Abnormal oral morphology	1801	DPH1	ORPHA:459061
HP:0031816	Abnormal oral morphology	10371	SEMA3A	ORPHA:478
HP:0031816	Abnormal oral morphology	23767	FLRT3	ORPHA:478
HP:0031816	Abnormal oral morphology	79625	NDNF	ORPHA:478
HP:0031816	Abnormal oral morphology	389549	FEZF1	ORPHA:478
HP:0031816	Abnormal oral morphology	1630	DCC	ORPHA:478
HP:0031816	Abnormal oral morphology	3730	ANOS1	ORPHA:478
HP:0031816	Abnormal oral morphology	6663	SOX10	ORPHA:478
HP:0031816	Abnormal oral morphology	285025	CCDC141	ORPHA:478
HP:0031816	Abnormal oral morphology	23384	SPECC1L	OMIM:600251
HP:0031816	Abnormal oral morphology	55869	HDAC8	OMIM:300882
HP:0031816	Abnormal oral morphology	55869	HDAC8	ORPHA:199
HP:0031816	Abnormal oral morphology	26128	KIFBP	ORPHA:66629
HP:0031816	Abnormal oral morphology	9126	SMC3	OMIM:610759
HP:0031816	Abnormal oral morphology	9126	SMC3	ORPHA:199
HP:0031816	Abnormal oral morphology	84068	SLC10A7	OMIM:618363
HP:0031816	Abnormal oral morphology	50619	DEF6	OMIM:619573
HP:0031816	Abnormal oral morphology	340665	CYP26C1	ORPHA:398189
HP:0031816	Abnormal oral morphology	84314	TMEM107	ORPHA:564
HP:0031816	Abnormal oral morphology	79867	TCTN2	ORPHA:564
HP:0031816	Abnormal oral morphology	79867	TCTN2	OMIM:613885
HP:0031816	Abnormal oral morphology	79600	TCTN1	ORPHA:564
HP:0031816	Abnormal oral morphology	57096	RPGRIP1	ORPHA:564
HP:0031816	Abnormal oral morphology	79848	CSPP1	ORPHA:564
HP:0031816	Abnormal oral morphology	80184	CEP290	ORPHA:564
HP:0031816	Abnormal oral morphology	80184	CEP290	OMIM:611134
HP:0031816	Abnormal oral morphology	80184	CEP290	OMIM:610188
HP:0031816	Abnormal oral morphology	57545	CC2D2A	ORPHA:564
HP:0031816	Abnormal oral morphology	57545	CC2D2A	OMIM:612284
HP:0031816	Abnormal oral morphology	91147	TMEM67	ORPHA:564
HP:0031816	Abnormal oral morphology	91147	TMEM67	OMIM:607361
HP:0031816	Abnormal oral morphology	79770	TXNDC15	ORPHA:564
HP:0031816	Abnormal oral morphology	372	ARCN1	OMIM:617164
HP:0031816	Abnormal oral morphology	8883	NAE1	OMIM:620210
HP:0031816	Abnormal oral morphology	4927	NUP88	ORPHA:994
HP:0031816	Abnormal oral morphology	7846	TUBA1A	ORPHA:994
HP:0031816	Abnormal oral morphology	4654	MYOD1	ORPHA:994
HP:0031816	Abnormal oral morphology	4654	MYOD1	OMIM:618975
HP:0031816	Abnormal oral morphology	5913	RAPSN	ORPHA:994
HP:0031816	Abnormal oral morphology	5913	RAPSN	OMIM:618388
HP:0031816	Abnormal oral morphology	6572	SLC18A3	ORPHA:994
HP:0031816	Abnormal oral morphology	285489	DOK7	ORPHA:994
HP:0031816	Abnormal oral morphology	5530	PPP3CA	OMIM:618265
HP:0031816	Abnormal oral morphology	57514	ARHGAP31	OMIM:100300
HP:0031816	Abnormal oral morphology	2254	FGF9	OMIM:612961
HP:0031816	Abnormal oral morphology	10413	YAP1	OMIM:120433
HP:0031816	Abnormal oral morphology	10653	SPINT2	OMIM:270420
HP:0031816	Abnormal oral morphology	2571	GAD1	OMIM:619124
HP:0031816	Abnormal oral morphology	55640	FLVCR2	OMIM:225790
HP:0031816	Abnormal oral morphology	90416	CCDC32	OMIM:619123
HP:0031816	Abnormal oral morphology	23169	SLC35D1	OMIM:269250
HP:0031816	Abnormal oral morphology	23169	SLC35D1	ORPHA:3144
HP:0031816	Abnormal oral morphology	22995	CEP152	OMIM:613823
HP:0031816	Abnormal oral morphology	4222	MEOX1	OMIM:214300
HP:0031816	Abnormal oral morphology	4222	MEOX1	ORPHA:2345
HP:0031816	Abnormal oral morphology	80267	EDEM3	OMIM:619493
HP:0031816	Abnormal oral morphology	1984	EIF5A	OMIM:619376
HP:0031816	Abnormal oral morphology	168667	BMPER	ORPHA:66637
HP:0031816	Abnormal oral morphology	168667	BMPER	OMIM:608022
HP:0031816	Abnormal oral morphology	124454	EARS2	OMIM:614924
HP:0031816	Abnormal oral morphology	3239	HOXD13	ORPHA:887
HP:0031816	Abnormal oral morphology	9897	WASHC5	ORPHA:7
HP:0031816	Abnormal oral morphology	9897	WASHC5	OMIM:220210
HP:0031816	Abnormal oral morphology	28952	CCDC22	ORPHA:7
HP:0031816	Abnormal oral morphology	6913	TBX15	OMIM:260660
HP:0031816	Abnormal oral morphology	6657	SOX2	ORPHA:3157
HP:0031816	Abnormal oral morphology	6658	SOX3	ORPHA:3157
HP:0031816	Abnormal oral morphology	10682	EBP	ORPHA:401973
HP:0031816	Abnormal oral morphology	2294	FOXF1	OMIM:265380
HP:0031816	Abnormal oral morphology	6399	TRAPPC2	ORPHA:93284
HP:0031816	Abnormal oral morphology	3728	JUP	ORPHA:158687
HP:0031816	Abnormal oral morphology	3636	INPPL1	ORPHA:3144
HP:0031816	Abnormal oral morphology	10992	SF3B2	OMIM:164210
HP:0031816	Abnormal oral morphology	4281	MID1	OMIM:300000
HP:0031816	Abnormal oral morphology	4281	MID1	ORPHA:2745
HP:0031816	Abnormal oral morphology	80232	WDR26	ORPHA:513456
HP:0031816	Abnormal oral morphology	80232	WDR26	OMIM:617616
HP:0031816	Abnormal oral morphology	92579	G6PC3	OMIM:612541
HP:0031816	Abnormal oral morphology	10459	MAD2L2	ORPHA:84
HP:0031816	Abnormal oral morphology	7516	XRCC2	ORPHA:84
HP:0031816	Abnormal oral morphology	29089	UBE2T	ORPHA:84
HP:0031816	Abnormal oral morphology	675	BRCA2	ORPHA:84
HP:0031816	Abnormal oral morphology	2177	FANCD2	ORPHA:84
HP:0031816	Abnormal oral morphology	2175	FANCA	ORPHA:84
HP:0031816	Abnormal oral morphology	2187	FANCB	ORPHA:84
HP:0031816	Abnormal oral morphology	2176	FANCC	ORPHA:84
HP:0031816	Abnormal oral morphology	2178	FANCE	ORPHA:84
HP:0031816	Abnormal oral morphology	2188	FANCF	ORPHA:84
HP:0031816	Abnormal oral morphology	2189	FANCG	ORPHA:84
HP:0031816	Abnormal oral morphology	5888	RAD51	ORPHA:84
HP:0031816	Abnormal oral morphology	5889	RAD51C	ORPHA:84
HP:0031816	Abnormal oral morphology	55159	RFWD3	ORPHA:84
HP:0031816	Abnormal oral morphology	83990	BRIP1	ORPHA:84
HP:0031816	Abnormal oral morphology	57697	FANCM	ORPHA:84
HP:0031816	Abnormal oral morphology	79728	PALB2	ORPHA:84
HP:0031816	Abnormal oral morphology	84464	SLX4	ORPHA:84
HP:0031816	Abnormal oral morphology	55215	FANCI	ORPHA:84
HP:0031816	Abnormal oral morphology	9184	BUB3	ORPHA:1052
HP:0031816	Abnormal oral morphology	701	BUB1B	ORPHA:1052
HP:0031816	Abnormal oral morphology	701	BUB1B	OMIM:257300
HP:0031816	Abnormal oral morphology	2615	LRRC32	OMIM:619074
HP:0031816	Abnormal oral morphology	392255	GDF6	OMIM:118100
HP:0031816	Abnormal oral morphology	392255	GDF6	ORPHA:2345
HP:0031816	Abnormal oral morphology	4519	MT-CYB	ORPHA:137675
HP:0031816	Abnormal oral morphology	54499	TMCO1	OMIM:213980
HP:0031816	Abnormal oral morphology	54499	TMCO1	ORPHA:1394
HP:0031816	Abnormal oral morphology	157570	ESCO2	ORPHA:3103
HP:0031816	Abnormal oral morphology	157570	ESCO2	OMIM:268300
HP:0031816	Abnormal oral morphology	78989	COLEC11	OMIM:265050
HP:0031816	Abnormal oral morphology	5324	PLAG1	ORPHA:397590
HP:0031816	Abnormal oral morphology	8091	HMGA2	ORPHA:397590
HP:0031816	Abnormal oral morphology	10324	KLHL41	OMIM:615731
HP:0031816	Abnormal oral morphology	2625	GATA3	ORPHA:2237
HP:0031816	Abnormal oral morphology	11023	VAX1	OMIM:614402
HP:0031816	Abnormal oral morphology	8195	MKKS	ORPHA:2473
HP:0031816	Abnormal oral morphology	9939	RBM8A	ORPHA:3320
HP:0031816	Abnormal oral morphology	9939	RBM8A	OMIM:274000
HP:0031816	Abnormal oral morphology	9573	GDF3	ORPHA:2345
HP:0031816	Abnormal oral morphology	1297	COL9A1	ORPHA:250984
HP:0031816	Abnormal oral morphology	1298	COL9A2	ORPHA:250984
HP:0031816	Abnormal oral morphology	1299	COL9A3	ORPHA:250984
HP:0031816	Abnormal oral morphology	84695	LOXL3	ORPHA:250984
HP:0031816	Abnormal oral morphology	1144	CHRND	OMIM:253290
HP:0031816	Abnormal oral morphology	1134	CHRNA1	OMIM:253290
HP:0031816	Abnormal oral morphology	5648	MASP1	OMIM:257920
HP:0031816	Abnormal oral morphology	29123	ANKRD11	ORPHA:2332
HP:0031816	Abnormal oral morphology	8092	ALX1	OMIM:613456
HP:0031816	Abnormal oral morphology	8092	ALX1	ORPHA:306542
HP:0031816	Abnormal oral morphology	4854	NOTCH3	OMIM:130720
HP:0031816	Abnormal oral morphology	5915	RARB	OMIM:615524
HP:0031816	Abnormal oral morphology	2122	MECOM	OMIM:616738
HP:0031816	Abnormal oral morphology	134701	RIPPLY2	ORPHA:2311
HP:0031816	Abnormal oral morphology	10683	DLL3	ORPHA:2311
HP:0031816	Abnormal oral morphology	3955	LFNG	ORPHA:2311
HP:0031816	Abnormal oral morphology	84667	HES7	ORPHA:2311
HP:0031816	Abnormal oral morphology	145873	MESP2	ORPHA:2311
HP:0031816	Abnormal oral morphology	1063	CENPF	OMIM:243605
HP:0031816	Abnormal oral morphology	23395	LARS2	OMIM:615300
HP:0031816	Abnormal oral morphology	10046	MAMLD1	ORPHA:95706
HP:0031816	Abnormal oral morphology	367	AR	ORPHA:95706
HP:0031816	Abnormal oral morphology	23476	BRD4	ORPHA:199
HP:0031816	Abnormal oral morphology	23233	EXOC6B	ORPHA:93359
HP:0031816	Abnormal oral morphology	3199	HOXA2	OMIM:612290
HP:0031816	Abnormal oral morphology	6911	TBX6	ORPHA:1797
HP:0031816	Abnormal oral morphology	202018	TAPT1	OMIM:616897
HP:0031816	Abnormal oral morphology	23247	KATNIP	OMIM:616784
HP:0031816	Abnormal oral morphology	59341	TRPV4	ORPHA:2635
HP:0031816	Abnormal oral morphology	55788	LMBRD1	ORPHA:79284
HP:0031816	Abnormal oral morphology	5430	POLR2A	OMIM:618603
HP:0031816	Abnormal oral morphology	23133	PHF8	OMIM:300263
HP:0031816	Abnormal oral morphology	9130	FAM50A	OMIM:300261
HP:0031816	Abnormal oral morphology	5885	RAD21	OMIM:614701
HP:0031816	Abnormal oral morphology	6418	SET	OMIM:618106
HP:0031816	Abnormal oral morphology	5575	PRKAR1B	OMIM:619680
HP:0031816	Abnormal oral morphology	8443	GNPAT	OMIM:222765
HP:0031816	Abnormal oral morphology	29998	BICRA	OMIM:619325
HP:0031816	Abnormal oral morphology	10220	GDF11	OMIM:619122
HP:0031816	Abnormal oral morphology	93986	FOXP2	ORPHA:209908
HP:0031816	Abnormal oral morphology	5604	MAP2K1	ORPHA:1340
HP:0031816	Abnormal oral morphology	5605	MAP2K2	ORPHA:1340
HP:0031816	Abnormal oral morphology	833	CARS1	OMIM:618891
HP:0031816	Abnormal oral morphology	51729	WBP11	OMIM:619227
HP:0031816	Abnormal oral morphology	3090	HIC1	ORPHA:531
HP:0031816	Abnormal oral morphology	5979	RET	OMIM:162300
HP:0031816	Abnormal oral morphology	7528	YY1	ORPHA:506358
HP:0031816	Abnormal oral morphology	7528	YY1	OMIM:617557
HP:0031816	Abnormal oral morphology	8450	CUL4B	OMIM:300354
HP:0031816	Abnormal oral morphology	8450	CUL4B	ORPHA:85293
HP:0031816	Abnormal oral morphology	23394	ADNP	ORPHA:404448
HP:0031816	Abnormal oral morphology	23394	ADNP	OMIM:615873
HP:0031816	Abnormal oral morphology	27316	RBMX	OMIM:300238
HP:0031816	Abnormal oral morphology	9759	HDAC4	OMIM:619797
HP:0031816	Abnormal oral morphology	6228	RPS23	OMIM:617412
HP:0031816	Abnormal oral morphology	5894	RAF1	OMIM:611554
HP:0031816	Abnormal oral morphology	5894	RAF1	ORPHA:648
HP:0031816	Abnormal oral morphology	84282	RNF135	ORPHA:137634
HP:0031816	Abnormal oral morphology	5457	POU4F1	ORPHA:314647
HP:0031816	Abnormal oral morphology	23261	CAMTA1	ORPHA:314647
HP:0031816	Abnormal oral morphology	23261	CAMTA1	OMIM:614756
HP:0031816	Abnormal oral morphology	5745	PTH1R	OMIM:600002
HP:0031816	Abnormal oral morphology	57520	HECW2	OMIM:617268
HP:0031816	Abnormal oral morphology	79639	TMEM53	OMIM:619727
HP:0031816	Abnormal oral morphology	4758	NEU1	ORPHA:812
HP:0031816	Abnormal oral morphology	1301	COL11A1	OMIM:154780
HP:0031816	Abnormal oral morphology	1301	COL11A1	ORPHA:560
HP:0031816	Abnormal oral morphology	56992	KIF15	ORPHA:261323
HP:0031816	Abnormal oral morphology	23221	RHOBTB2	OMIM:618004
HP:0031816	Abnormal oral morphology	57492	ARID1B	OMIM:135900
HP:0031816	Abnormal oral morphology	57492	ARID1B	ORPHA:1465
HP:0031816	Abnormal oral morphology	24140	FTSJ1	OMIM:309549
HP:0031816	Abnormal oral morphology	6601	SMARCC2	OMIM:618362
HP:0031816	Abnormal oral morphology	6601	SMARCC2	ORPHA:1465
HP:0031816	Abnormal oral morphology	4052	LTBP1	OMIM:619451
HP:0031816	Abnormal oral morphology	3899	AFF3	OMIM:619297
HP:0031816	Abnormal oral morphology	3643	INSR	OMIM:246200
HP:0031816	Abnormal oral morphology	6597	SMARCA4	ORPHA:1465
HP:0031816	Abnormal oral morphology	6597	SMARCA4	OMIM:614609
HP:0031816	Abnormal oral morphology	6598	SMARCB1	ORPHA:1465
HP:0031816	Abnormal oral morphology	8289	ARID1A	ORPHA:1465
HP:0031816	Abnormal oral morphology	8289	ARID1A	OMIM:614607
HP:0031816	Abnormal oral morphology	5977	DPF2	ORPHA:1465
HP:0031816	Abnormal oral morphology	5977	DPF2	OMIM:618027
HP:0031816	Abnormal oral morphology	6605	SMARCE1	ORPHA:1465
HP:0031816	Abnormal oral morphology	6605	SMARCE1	OMIM:616938
HP:0031816	Abnormal oral morphology	6664	SOX11	ORPHA:1465
HP:0031816	Abnormal oral morphology	2770	GNAI1	OMIM:619854
HP:0031816	Abnormal oral morphology	9820	CUL7	OMIM:273750
HP:0031816	Abnormal oral morphology	4054	LTBP3	ORPHA:969
HP:0031816	Abnormal oral morphology	83550	GPR101	ORPHA:963
HP:0031816	Abnormal oral morphology	9049	AIP	ORPHA:963
HP:0031816	Abnormal oral morphology	2717	GLA	ORPHA:324
HP:0031816	Abnormal oral morphology	1009	CDH11	OMIM:211380
HP:0031816	Abnormal oral morphology	25942	SIN3A	ORPHA:94065
HP:0031816	Abnormal oral morphology	25942	SIN3A	OMIM:613406
HP:0031816	Abnormal oral morphology	9839	ZEB2	ORPHA:261552
HP:0031816	Abnormal oral morphology	9839	ZEB2	ORPHA:261537
HP:0031816	Abnormal oral morphology	10524	KAT5	OMIM:619103
HP:0031816	Abnormal oral morphology	175	AGA	OMIM:208400
HP:0031816	Abnormal oral morphology	3782	KCNN3	OMIM:618658
HP:0031816	Abnormal oral morphology	10522	DEAF1	OMIM:615828
HP:0031816	Abnormal oral morphology	81620	CDT1	OMIM:613804
HP:0031816	Abnormal oral morphology	760	CA2	ORPHA:2785
HP:0031816	Abnormal oral morphology	26227	PHGDH	OMIM:256520
HP:0031816	Abnormal oral morphology	6611	SMS	ORPHA:3063
HP:0031816	Abnormal oral morphology	6611	SMS	OMIM:309583
HP:0031816	Abnormal oral morphology	56006	SMG9	OMIM:616920
HP:0031816	Abnormal oral morphology	2517	FUCA1	OMIM:230000
HP:0031816	Abnormal oral morphology	6804	STX1A	ORPHA:904
HP:0031816	Abnormal oral morphology	7461	CLIP2	ORPHA:904
HP:0031816	Abnormal oral morphology	84277	DNAJC30	ORPHA:904
HP:0031816	Abnormal oral morphology	8468	FKBP6	ORPHA:904
HP:0031816	Abnormal oral morphology	5982	RFC2	ORPHA:904
HP:0031816	Abnormal oral morphology	2969	GTF2I	ORPHA:904
HP:0031816	Abnormal oral morphology	3984	LIMK1	ORPHA:904
HP:0031816	Abnormal oral morphology	9569	GTF2IRD1	ORPHA:904
HP:0031816	Abnormal oral morphology	155382	VPS37D	ORPHA:904
HP:0031816	Abnormal oral morphology	155368	METTL27	ORPHA:904
HP:0031816	Abnormal oral morphology	114049	BUD23	ORPHA:904
HP:0031816	Abnormal oral morphology	7458	EIF4H	ORPHA:904
HP:0031816	Abnormal oral morphology	84163	GTF2IRD2	ORPHA:904
HP:0031816	Abnormal oral morphology	9275	BCL7B	ORPHA:904
HP:0031816	Abnormal oral morphology	26608	TBL2	ORPHA:904
HP:0031816	Abnormal oral morphology	653361	NCF1	ORPHA:904
HP:0031816	Abnormal oral morphology	135886	TMEM270	ORPHA:904
HP:0031816	Abnormal oral morphology	51085	MLXIPL	ORPHA:904
HP:0031816	Abnormal oral morphology	51085	MLXIPL	OMIM:194050
HP:0031816	Abnormal oral morphology	9031	BAZ1B	ORPHA:904
HP:0031816	Abnormal oral morphology	2006	ELN	ORPHA:904
HP:0031816	Abnormal oral morphology	2006	ELN	OMIM:194050
HP:0031816	Abnormal oral morphology	10060	ABCC9	OMIM:239850
HP:0031816	Abnormal oral morphology	23137	SMC5	OMIM:620185
HP:0031816	Abnormal oral morphology	26137	ZBTB20	OMIM:259050
HP:0031816	Abnormal oral morphology	79813	EHMT1	ORPHA:261652
HP:0031816	Abnormal oral morphology	58508	KMT2C	ORPHA:261652
HP:0031816	Abnormal oral morphology	55617	TASP1	OMIM:618950
HP:0031816	Abnormal oral morphology	23067	SETD1B	OMIM:619000
HP:0031816	Abnormal oral morphology	7358	UGDH	OMIM:618792
HP:0031816	Abnormal oral morphology	92335	STRADA	OMIM:611087
HP:0031816	Abnormal oral morphology	55691	FRMD4A	ORPHA:466688
HP:0031816	Abnormal oral morphology	10430	TMEM147	OMIM:620075
HP:0031816	Abnormal oral morphology	139285	AMER1	OMIM:300373
HP:0031816	Abnormal oral morphology	1893	ECM1	ORPHA:530
HP:0031816	Abnormal oral morphology	3423	IDS	OMIM:309900
HP:0031816	Abnormal oral morphology	9487	PIGL	OMIM:280000
HP:0031816	Abnormal oral morphology	84168	ANTXR1	OMIM:230740
HP:0031816	Abnormal oral morphology	54187	NANS	OMIM:610442
HP:0031816	Abnormal oral morphology	22800	RRAS2	ORPHA:648
HP:0031816	Abnormal oral morphology	8216	LZTR1	ORPHA:648
HP:0031816	Abnormal oral morphology	6016	RIT1	ORPHA:648
HP:0031816	Abnormal oral morphology	6237	RRAS	ORPHA:648
HP:0031816	Abnormal oral morphology	22808	MRAS	ORPHA:648
HP:0031816	Abnormal oral morphology	3845	KRAS	ORPHA:648
HP:0031816	Abnormal oral morphology	200734	SPRED2	ORPHA:648
HP:0031816	Abnormal oral morphology	6654	SOS1	ORPHA:648
HP:0031816	Abnormal oral morphology	6655	SOS2	ORPHA:648
HP:0031816	Abnormal oral morphology	5781	PTPN11	ORPHA:648
HP:0031816	Abnormal oral morphology	5922	RASA2	ORPHA:648
HP:0031816	Abnormal oral morphology	6513	SLC2A1	ORPHA:1942
HP:0031816	Abnormal oral morphology	8831	SYNGAP1	ORPHA:1942
HP:0031816	Abnormal oral morphology	1173	AP2M1	ORPHA:1942
HP:0031816	Abnormal oral morphology	6323	SCN1A	ORPHA:1942
HP:0031816	Abnormal oral morphology	340533	NEXMIF	ORPHA:1942
HP:0031816	Abnormal oral morphology	1106	CHD2	ORPHA:1942
HP:0031816	Abnormal oral morphology	6529	SLC6A1	ORPHA:1942
HP:0031816	Abnormal oral morphology	4668	NAGA	OMIM:609242
HP:0031816	Abnormal oral morphology	27077	B9D1	OMIM:617120
HP:0031816	Abnormal oral morphology	55331	ACER3	OMIM:617762
HP:0031816	Abnormal oral morphology	2702	GJA5	OMIM:612474
HP:0031816	Abnormal oral morphology	2703	GJA8	OMIM:612474
HP:0031816	Abnormal oral morphology	5696	PSMB8	OMIM:256040
HP:0031816	Abnormal oral morphology	10075	HUWE1	OMIM:309590
HP:0031816	Abnormal oral morphology	65250	CPLANE1	OMIM:277170
HP:0031816	Abnormal oral morphology	65250	CPLANE1	ORPHA:2754
HP:0031816	Abnormal oral morphology	54903	MKS1	OMIM:249000
HP:0031816	Abnormal oral morphology	153241	CEP120	OMIM:616300
HP:0031816	Abnormal oral morphology	26005	C2CD3	ORPHA:434179
HP:0031816	Abnormal oral morphology	26005	C2CD3	OMIM:615948
HP:0031816	Abnormal oral morphology	9851	KIAA0753	OMIM:617127
HP:0031816	Abnormal oral morphology	9851	KIAA0753	ORPHA:2754
HP:0031816	Abnormal oral morphology	4208	MEF2C	OMIM:613443
HP:0031816	Abnormal oral morphology	26123	TCTN3	OMIM:614815
HP:0031816	Abnormal oral morphology	26123	TCTN3	OMIM:258860
HP:0031816	Abnormal oral morphology	26123	TCTN3	ORPHA:2754
HP:0031816	Abnormal oral morphology	79583	TMEM231	ORPHA:2752
HP:0031816	Abnormal oral morphology	10210	TOPORS	ORPHA:2754
HP:0031816	Abnormal oral morphology	5147	PDE6D	ORPHA:2754
HP:0031816	Abnormal oral morphology	51259	TMEM216	ORPHA:2754
HP:0031816	Abnormal oral morphology	317662	FAM149B1	ORPHA:2754
HP:0031816	Abnormal oral morphology	55149	MTPAP	ORPHA:254343
HP:0031816	Abnormal oral morphology	10382	TUBB4A	ORPHA:98805
HP:0031816	Abnormal oral morphology	2548	GAA	ORPHA:308552
HP:0031816	Abnormal oral morphology	23400	ATP13A2	ORPHA:306674
HP:0031816	Abnormal oral morphology	57679	ALS2	OMIM:205100
HP:0031816	Abnormal oral morphology	57679	ALS2	OMIM:606353
HP:0031816	Abnormal oral morphology	79628	SH3TC2	ORPHA:99949
HP:0031816	Abnormal oral morphology	1906	EDN1	ORPHA:137888
HP:0031816	Abnormal oral morphology	5332	PLCB4	ORPHA:137888
HP:0031816	Abnormal oral morphology	2773	GNAI3	ORPHA:137888
HP:0031816	Abnormal oral morphology	81846	SBF2	ORPHA:99956
HP:0031816	Abnormal oral morphology	80144	FRAS1	OMIM:219000
HP:0031816	Abnormal oral morphology	10755	GIPC1	ORPHA:98897
HP:0031816	Abnormal oral morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0031816	Abnormal oral morphology	699	BUB1	OMIM:620183
HP:0031816	Abnormal oral morphology	4488	MSX2	OMIM:604757
HP:0031816	Abnormal oral morphology	6628	SNRPB	OMIM:117650
HP:0031816	Abnormal oral morphology	10526	IPO8	OMIM:619472
HP:0031816	Abnormal oral morphology	1859	DYRK1A	ORPHA:268261
HP:0031816	Abnormal oral morphology	6949	TCOF1	OMIM:154500
HP:0031816	Abnormal oral morphology	1280	COL2A1	ORPHA:93316
HP:0031816	Abnormal oral morphology	7314	UBB	ORPHA:99772
HP:0031816	Abnormal oral morphology	57822	GRHL3	ORPHA:99772
HP:0031816	Abnormal oral morphology	6135	RPL11	ORPHA:124
HP:0031816	Abnormal oral morphology	6138	RPL15	ORPHA:124
HP:0031816	Abnormal oral morphology	6229	RPS24	ORPHA:124
HP:0031816	Abnormal oral morphology	6125	RPL5	ORPHA:124
HP:0031816	Abnormal oral morphology	6204	RPS10	ORPHA:124
HP:0031816	Abnormal oral morphology	6224	RPS20	ORPHA:124
HP:0031816	Abnormal oral morphology	6165	RPL35A	ORPHA:124
HP:0031816	Abnormal oral morphology	2623	GATA1	ORPHA:124
HP:0031816	Abnormal oral morphology	6223	RPS19	ORPHA:124
HP:0031816	Abnormal oral morphology	6232	RPS27	ORPHA:124
HP:0031816	Abnormal oral morphology	6231	RPS26	ORPHA:124
HP:0031816	Abnormal oral morphology	11224	RPL35	ORPHA:124
HP:0031816	Abnormal oral morphology	6160	RPL31	ORPHA:124
HP:0031816	Abnormal oral morphology	6218	RPS17	ORPHA:124
HP:0031816	Abnormal oral morphology	6201	RPS7	ORPHA:124
HP:0031816	Abnormal oral morphology	6155	RPL27	ORPHA:124
HP:0031816	Abnormal oral morphology	6154	RPL26	ORPHA:124
HP:0031816	Abnormal oral morphology	6210	RPS15A	ORPHA:124
HP:0031816	Abnormal oral morphology	90121	TSR2	ORPHA:124
HP:0031816	Abnormal oral morphology	6141	RPL18	ORPHA:124
HP:0031816	Abnormal oral morphology	6235	RPS29	ORPHA:124
HP:0031816	Abnormal oral morphology	6234	RPS28	ORPHA:124
HP:0031816	Abnormal oral morphology	51816	ADA2	ORPHA:124
HP:0031816	Abnormal oral morphology	83479	DDX59	ORPHA:2919
HP:0031816	Abnormal oral morphology	7043	TGFB3	OMIM:615582
HP:0031816	Abnormal oral morphology	8882	ZPR1	OMIM:619321
HP:0031816	Abnormal oral morphology	55033	FKBP14	OMIM:614557
HP:0031816	Abnormal oral morphology	6602	SMARCD1	OMIM:618779
HP:0031816	Abnormal oral morphology	60386	SLC25A19	ORPHA:99742
HP:0031816	Abnormal oral morphology	9896	FIG4	OMIM:216340
HP:0031816	Abnormal oral morphology	1717	DHCR7	OMIM:270400
HP:0031816	Abnormal oral morphology	2697	GJA1	OMIM:218400
HP:0031816	Abnormal oral morphology	2697	GJA1	OMIM:164200
HP:0031816	Abnormal oral morphology	2697	GJA1	ORPHA:2710
HP:0031816	Abnormal oral morphology	171023	ASXL1	OMIM:605039
HP:0031816	Abnormal oral morphology	285590	SH3PXD2B	OMIM:249420
HP:0031816	Abnormal oral morphology	170302	ARX	OMIM:300004
HP:0031816	Abnormal oral morphology	55906	ZC4H2	OMIM:314580
HP:0031816	Abnormal oral morphology	473	RERE	OMIM:616975
HP:0031816	Abnormal oral morphology	129563	DIS3L2	ORPHA:2849
HP:0031816	Abnormal oral morphology	8481	OFD1	ORPHA:2750
HP:0031816	Abnormal oral morphology	2799	GNS	OMIM:252940
HP:0031816	Abnormal oral morphology	26040	SETBP1	ORPHA:798
HP:0031816	Abnormal oral morphology	526	ATP6V1B2	ORPHA:79500
HP:0031816	Abnormal oral morphology	57465	TBC1D24	ORPHA:79500
HP:0031816	Abnormal oral morphology	546	ATRX	OMIM:309580
HP:0031816	Abnormal oral morphology	23065	EMC1	OMIM:616875
HP:0031816	Abnormal oral morphology	55697	VAC14	ORPHA:3472
HP:0031816	Abnormal oral morphology	53834	FGFRL1	OMIM:194190
HP:0031816	Abnormal oral morphology	1487	CTBP1	OMIM:194190
HP:0031816	Abnormal oral morphology	3954	LETM1	OMIM:194190
HP:0031816	Abnormal oral morphology	7468	NSD2	OMIM:194190
HP:0031816	Abnormal oral morphology	10815	CPLX1	OMIM:194190
HP:0031816	Abnormal oral morphology	117581	TWIST2	OMIM:200110
HP:0031816	Abnormal oral morphology	271	AMPD2	OMIM:615809
HP:0031816	Abnormal oral morphology	7291	TWIST1	ORPHA:794
HP:0031816	Abnormal oral morphology	7291	TWIST1	OMIM:101400
HP:0031816	Abnormal oral morphology	2263	FGFR2	ORPHA:794
HP:0031816	Abnormal oral morphology	2263	FGFR2	ORPHA:1555
HP:0031816	Abnormal oral morphology	2263	FGFR2	OMIM:123790
HP:0031816	Abnormal oral morphology	2263	FGFR2	ORPHA:87
HP:0031816	Abnormal oral morphology	2263	FGFR2	ORPHA:207
HP:0031816	Abnormal oral morphology	2263	FGFR2	OMIM:101400
HP:0031816	Abnormal oral morphology	2263	FGFR2	OMIM:101200
HP:0031816	Abnormal oral morphology	2261	FGFR3	ORPHA:794
HP:0031816	Abnormal oral morphology	6197	RPS6KA3	ORPHA:192
HP:0031816	Abnormal oral morphology	6197	RPS6KA3	OMIM:303600
HP:0031816	Abnormal oral morphology	6909	TBX2	OMIM:618223
HP:0031816	Abnormal oral morphology	56896	DPYSL5	OMIM:619435
HP:0031816	Abnormal oral morphology	2892	GRIA3	ORPHA:364028
HP:0031816	Abnormal oral morphology	3590	IL11RA	OMIM:614188
HP:0031816	Abnormal oral morphology	8506	CNTNAP1	OMIM:618186
HP:0031816	Abnormal oral morphology	9524	TECR	OMIM:614020
HP:0031816	Abnormal oral morphology	1387	CREBBP	OMIM:180849
HP:0031816	Abnormal oral morphology	1387	CREBBP	ORPHA:353281
HP:0031816	Abnormal oral morphology	1387	CREBBP	ORPHA:353277
HP:0031816	Abnormal oral morphology	22931	RAB18	OMIM:614222
HP:0031816	Abnormal oral morphology	8924	HERC2	OMIM:615516
HP:0031816	Abnormal oral morphology	79005	SCNM1	OMIM:620107
HP:0031816	Abnormal oral morphology	5728	PTEN	ORPHA:109
HP:0031816	Abnormal oral morphology	2200	FBN1	OMIM:608328
HP:0031816	Abnormal oral morphology	2200	FBN1	OMIM:154700
HP:0031816	Abnormal oral morphology	91754	NEK9	OMIM:617022
HP:0031816	Abnormal oral morphology	8567	MADD	OMIM:619004
HP:0031816	Abnormal oral morphology	63916	ELMO2	ORPHA:3019
HP:0031816	Abnormal oral morphology	57038	RARS2	OMIM:611523
HP:0031816	Abnormal oral morphology	4952	OCRL	ORPHA:534
HP:0031816	Abnormal oral morphology	55343	SLC35C1	ORPHA:99843
HP:0031816	Abnormal oral morphology	6660	SOX5	ORPHA:313892
HP:0031816	Abnormal oral morphology	1376	CPT2	OMIM:608836
HP:0031816	Abnormal oral morphology	6497	SKI	OMIM:182212
HP:0031816	Abnormal oral morphology	6452	SH3BP2	OMIM:118400
HP:0031816	Abnormal oral morphology	1513	CTSK	OMIM:265800
HP:0031816	Abnormal oral morphology	64324	NSD1	OMIM:117550
HP:0031816	Abnormal oral morphology	8260	NAA10	OMIM:300855
HP:0031816	Abnormal oral morphology	23184	MESD	OMIM:618644
HP:0031816	Abnormal oral morphology	91137	SLC25A46	OMIM:616505
HP:0031816	Abnormal oral morphology	284058	KANSL1	OMIM:610443
HP:0031816	Abnormal oral morphology	7476	WNT7A	OMIM:276820
HP:0031816	Abnormal oral morphology	2077	ERF	ORPHA:207
HP:0031816	Abnormal oral morphology	147372	CCBE1	OMIM:235510
HP:0031816	Abnormal oral morphology	7474	WNT5A	OMIM:180700
HP:0031816	Abnormal oral morphology	1855	DVL1	OMIM:180700
HP:0031816	Abnormal oral morphology	8604	SLC25A12	OMIM:612949
HP:0031816	Abnormal oral morphology	3265	HRAS	ORPHA:3071
HP:0031816	Abnormal oral morphology	2316	FLNA	ORPHA:555877
HP:0031816	Abnormal oral morphology	860	RUNX2	OMIM:119600
HP:0031816	Abnormal oral morphology	58497	PRUNE1	OMIM:617481
HP:0031816	Abnormal oral morphology	10297	APC2	OMIM:617169
HP:0031816	Abnormal oral morphology	672	BRCA1	OMIM:617883
HP:0031816	Abnormal oral morphology	1954	MEGF8	OMIM:614976
HP:0031816	Abnormal oral morphology	7227	TRPS1	OMIM:190350
HP:0031816	Abnormal oral morphology	2719	GPC3	OMIM:312870
HP:0031816	Abnormal oral morphology	165	AEBP1	ORPHA:536532
HP:0031816	Abnormal oral morphology	81794	ADAMTS10	OMIM:277600
HP:0031816	Abnormal oral morphology	5566	PRKACA	ORPHA:289
HP:0031816	Abnormal oral morphology	2735	GLI1	ORPHA:289
HP:0031816	Abnormal oral morphology	2121	EVC	ORPHA:289
HP:0031816	Abnormal oral morphology	2121	EVC	ORPHA:952
HP:0031816	Abnormal oral morphology	51626	DYNC2LI1	ORPHA:289
HP:0031816	Abnormal oral morphology	132884	EVC2	ORPHA:289
HP:0031816	Abnormal oral morphology	132884	EVC2	ORPHA:952
HP:0031816	Abnormal oral morphology	1281	COL3A1	ORPHA:286
HP:0031816	Abnormal oral morphology	54101	RIPK4	ORPHA:1401
HP:0031816	Abnormal oral morphology	10716	TBR1	ORPHA:1617
HP:0031816	Abnormal oral morphology	9786	KIAA0586	OMIM:616546
HP:0031816	Abnormal oral morphology	1147	CHUK	OMIM:619339
HP:0031816	Abnormal oral morphology	9894	TELO2	OMIM:616954
HP:0031816	Abnormal oral morphology	55081	IFT57	OMIM:617927
HP:0031816	Abnormal oral morphology	10225	CD96	ORPHA:1308
HP:0031816	Abnormal oral morphology	10225	CD96	OMIM:211750
HP:0031816	Abnormal oral morphology	3476	IGBP1	OMIM:300472
HP:0031816	Abnormal oral morphology	9949	AMMECR1	OMIM:300990
HP:0031816	Abnormal oral morphology	2737	GLI3	ORPHA:672
HP:0031816	Abnormal oral morphology	4088	SMAD3	ORPHA:284984
HP:0031816	Abnormal oral morphology	4088	SMAD3	OMIM:613795
HP:0031816	Abnormal oral morphology	274	BIN1	ORPHA:169186
HP:0031816	Abnormal oral morphology	10290	SPEG	ORPHA:169186
HP:0031816	Abnormal oral morphology	10290	SPEG	OMIM:615959
HP:0031816	Abnormal oral morphology	7273	TTN	ORPHA:169186
HP:0031816	Abnormal oral morphology	85465	SELENOI	ORPHA:506353
HP:0031816	Abnormal oral morphology	85465	SELENOI	OMIM:618768
HP:0031816	Abnormal oral morphology	6477	SIAH1	OMIM:619314
HP:0031816	Abnormal oral morphology	23135	KDM6B	OMIM:618505
HP:0031816	Abnormal oral morphology	23498	HAAO	OMIM:617660
HP:0031816	Abnormal oral morphology	6651	SON	OMIM:617140
HP:0031816	Abnormal oral morphology	6651	SON	ORPHA:500150
HP:0031816	Abnormal oral morphology	3664	IRF6	OMIM:119500
HP:0031816	Abnormal oral morphology	3664	IRF6	OMIM:119300
HP:0031816	Abnormal oral morphology	80055	PGAP1	OMIM:615802
HP:0031816	Abnormal oral morphology	84892	POMGNT2	ORPHA:899
HP:0031816	Abnormal oral morphology	148789	B3GALNT2	ORPHA:899
HP:0031816	Abnormal oral morphology	79147	FKRP	ORPHA:899
HP:0031816	Abnormal oral morphology	9215	LARGE1	ORPHA:899
HP:0031816	Abnormal oral morphology	1282	COL4A1	ORPHA:899
HP:0031816	Abnormal oral morphology	729920	CRPPA	ORPHA:899
HP:0031816	Abnormal oral morphology	10329	RXYLT1	ORPHA:899
HP:0031816	Abnormal oral morphology	1605	DAG1	ORPHA:899
HP:0031816	Abnormal oral morphology	11041	B4GAT1	ORPHA:899
HP:0031816	Abnormal oral morphology	10585	POMT1	ORPHA:899
HP:0031816	Abnormal oral morphology	84197	POMK	ORPHA:899
HP:0031816	Abnormal oral morphology	2218	FKTN	ORPHA:899
HP:0031816	Abnormal oral morphology	55624	POMGNT1	ORPHA:899
HP:0031816	Abnormal oral morphology	79068	FTO	OMIM:612938
HP:0031816	Abnormal oral morphology	1741	DLG3	OMIM:300850
HP:0031816	Abnormal oral morphology	10735	STAG2	OMIM:301022
HP:0031816	Abnormal oral morphology	10735	STAG2	ORPHA:93925
HP:0031816	Abnormal oral morphology	10735	STAG2	ORPHA:220386
HP:0031816	Abnormal oral morphology	84992	PIGY	ORPHA:247262
HP:0031816	Abnormal oral morphology	84720	PIGO	ORPHA:247262
HP:0031816	Abnormal oral morphology	93210	PGAP3	ORPHA:247262
HP:0031816	Abnormal oral morphology	284098	PIGW	ORPHA:247262
HP:0031816	Abnormal oral morphology	27315	PGAP2	ORPHA:247262
HP:0031816	Abnormal oral morphology	55650	PIGV	ORPHA:247262
HP:0031816	Abnormal oral morphology	80204	FBXO11	OMIM:618089
HP:0031816	Abnormal oral morphology	1108	CHD4	OMIM:617159
HP:0031816	Abnormal oral morphology	64131	XYLT1	OMIM:615777
HP:0031816	Abnormal oral morphology	5000	ORC4	ORPHA:2554
HP:0031816	Abnormal oral morphology	23594	ORC6	ORPHA:2554
HP:0031816	Abnormal oral morphology	8318	CDC45	ORPHA:2554
HP:0031816	Abnormal oral morphology	990	CDC6	ORPHA:2554
HP:0031816	Abnormal oral morphology	4998	ORC1	ORPHA:2554
HP:0031816	Abnormal oral morphology	51053	GMNN	ORPHA:2554
HP:0031816	Abnormal oral morphology	444	ASPH	OMIM:601552
HP:0031816	Abnormal oral morphology	6469	SHH	OMIM:142945
HP:0031816	Abnormal oral morphology	6469	SHH	ORPHA:93926
HP:0031816	Abnormal oral morphology	6469	SHH	ORPHA:93924
HP:0031816	Abnormal oral morphology	6469	SHH	ORPHA:93925
HP:0031816	Abnormal oral morphology	6469	SHH	ORPHA:220386
HP:0031816	Abnormal oral morphology	9401	RECQL4	OMIM:218600
HP:0031816	Abnormal oral morphology	5422	POLA1	OMIM:301030
HP:0031816	Abnormal oral morphology	10484	SEC23A	OMIM:607812
HP:0031816	Abnormal oral morphology	652	BMP4	OMIM:607932
HP:0031816	Abnormal oral morphology	633	BGN	OMIM:300989
HP:0031816	Abnormal oral morphology	80776	B9D2	OMIM:614175
HP:0031816	Abnormal oral morphology	28514	DLL1	ORPHA:93926
HP:0031816	Abnormal oral morphology	28514	DLL1	ORPHA:93924
HP:0031816	Abnormal oral morphology	28514	DLL1	ORPHA:93925
HP:0031816	Abnormal oral morphology	28514	DLL1	ORPHA:220386
HP:0031816	Abnormal oral morphology	2253	FGF8	ORPHA:93926
HP:0031816	Abnormal oral morphology	2253	FGF8	ORPHA:93924
HP:0031816	Abnormal oral morphology	2253	FGF8	ORPHA:93925
HP:0031816	Abnormal oral morphology	2253	FGF8	ORPHA:220386
HP:0031816	Abnormal oral morphology	6496	SIX3	ORPHA:93926
HP:0031816	Abnormal oral morphology	6496	SIX3	ORPHA:93924
HP:0031816	Abnormal oral morphology	6496	SIX3	ORPHA:93925
HP:0031816	Abnormal oral morphology	6496	SIX3	ORPHA:220386
HP:0031816	Abnormal oral morphology	6496	SIX3	OMIM:157170
HP:0031816	Abnormal oral morphology	7050	TGIF1	ORPHA:93926
HP:0031816	Abnormal oral morphology	7050	TGIF1	ORPHA:93924
HP:0031816	Abnormal oral morphology	7050	TGIF1	ORPHA:93925
HP:0031816	Abnormal oral morphology	7050	TGIF1	ORPHA:220386
HP:0031816	Abnormal oral morphology	4838	NODAL	ORPHA:93926
HP:0031816	Abnormal oral morphology	4838	NODAL	ORPHA:93924
HP:0031816	Abnormal oral morphology	4838	NODAL	ORPHA:93925
HP:0031816	Abnormal oral morphology	4838	NODAL	ORPHA:220386
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93926
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93924
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93925
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:220386
HP:0031816	Abnormal oral morphology	2619	GAS1	ORPHA:93926
HP:0031816	Abnormal oral morphology	2619	GAS1	ORPHA:93924
HP:0031816	Abnormal oral morphology	2619	GAS1	ORPHA:93925
HP:0031816	Abnormal oral morphology	2619	GAS1	ORPHA:220386
HP:0031816	Abnormal oral morphology	84976	DISP1	ORPHA:93926
HP:0031816	Abnormal oral morphology	84976	DISP1	ORPHA:93924
HP:0031816	Abnormal oral morphology	84976	DISP1	ORPHA:93925
HP:0031816	Abnormal oral morphology	84976	DISP1	ORPHA:220386
HP:0031816	Abnormal oral morphology	2736	GLI2	ORPHA:93926
HP:0031816	Abnormal oral morphology	2736	GLI2	ORPHA:93924
HP:0031816	Abnormal oral morphology	2736	GLI2	ORPHA:93925
HP:0031816	Abnormal oral morphology	2736	GLI2	ORPHA:220386
HP:0031816	Abnormal oral morphology	8928	FOXH1	ORPHA:93926
HP:0031816	Abnormal oral morphology	8928	FOXH1	ORPHA:93924
HP:0031816	Abnormal oral morphology	8928	FOXH1	ORPHA:93925
HP:0031816	Abnormal oral morphology	8928	FOXH1	ORPHA:220386
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:93926
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:93924
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:93925
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:220386
HP:0031816	Abnormal oral morphology	50937	CDON	ORPHA:93926
HP:0031816	Abnormal oral morphology	50937	CDON	ORPHA:93924
HP:0031816	Abnormal oral morphology	50937	CDON	ORPHA:93925
HP:0031816	Abnormal oral morphology	50937	CDON	ORPHA:220386
HP:0031816	Abnormal oral morphology	2260	FGFR1	ORPHA:93924
HP:0031816	Abnormal oral morphology	2260	FGFR1	ORPHA:220386
HP:0031816	Abnormal oral morphology	124512	METTL23	OMIM:615942
HP:0031816	Abnormal oral morphology	23007	PLCH1	ORPHA:93925
HP:0031816	Abnormal oral morphology	6638	SNRPN	ORPHA:177907
HP:0031816	Abnormal oral morphology	11285	B4GALT7	OMIM:130070
HP:0031816	Abnormal oral morphology	23347	SMCHD1	ORPHA:2250
HP:0031816	Abnormal oral morphology	6905	TBCE	OMIM:241410
HP:0031816	Abnormal oral morphology	63895	PIEZO2	OMIM:114300
HP:0031816	Abnormal oral morphology	63895	PIEZO2	ORPHA:2461
HP:0031816	Abnormal oral morphology	29895	MYL11	OMIM:619110
HP:0031816	Abnormal oral morphology	9791	PTDSS1	ORPHA:2658
HP:0031816	Abnormal oral morphology	8452	CUL3	OMIM:619239
HP:0031816	Abnormal oral morphology	246329	STAC3	ORPHA:168572
HP:0031816	Abnormal oral morphology	8085	KMT2D	OMIM:620186
HP:0031816	Abnormal oral morphology	10907	TXNL4A	OMIM:608572
HP:0031816	Abnormal oral morphology	79796	ALG9	ORPHA:79328
HP:0031816	Abnormal oral morphology	284252	KCTD1	OMIM:181270
HP:0031816	Abnormal oral morphology	1718	DHCR24	ORPHA:35107
HP:0031816	Abnormal oral morphology	8239	USP9X	OMIM:300968
HP:0031816	Abnormal oral morphology	6472	SHMT2	OMIM:619121
HP:0031816	Abnormal oral morphology	9928	KIF14	OMIM:616258
HP:0031816	Abnormal oral morphology	1654	DDX3X	OMIM:300958
HP:0031816	Abnormal oral morphology	2255	FGF10	ORPHA:2363
HP:0031816	Abnormal oral morphology	3373	HYAL1	OMIM:601492
HP:0031816	Abnormal oral morphology	50945	TBX22	OMIM:303400
HP:0031816	Abnormal oral morphology	23314	SATB2	ORPHA:576283
HP:0031816	Abnormal oral morphology	81031	SLC2A10	OMIM:208050
HP:0031816	Abnormal oral morphology	23483	TGDS	OMIM:616145
HP:0031816	Abnormal oral morphology	9652	SKIC3	OMIM:222470
HP:0031816	Abnormal oral morphology	8243	SMC1A	ORPHA:220386
HP:0031816	Abnormal oral morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0031816	Abnormal oral morphology	5236	PGM1	OMIM:614921
HP:0031816	Abnormal oral morphology	7048	TGFBR2	OMIM:610168
HP:0031816	Abnormal oral morphology	7048	TGFBR2	ORPHA:60030
HP:0031816	Abnormal oral morphology	23522	KAT6B	ORPHA:3047
HP:0031816	Abnormal oral morphology	1302	COL11A2	ORPHA:1427
HP:0031816	Abnormal oral morphology	10195	ALG3	OMIM:601110
HP:0031816	Abnormal oral morphology	9742	IFT140	OMIM:266920
HP:0031816	Abnormal oral morphology	9775	EIF4A3	OMIM:268305
HP:0031816	Abnormal oral morphology	91252	SLC39A13	OMIM:612350
HP:0031816	Abnormal oral morphology	7046	TGFBR1	ORPHA:60030
HP:0031816	Abnormal oral morphology	7046	TGFBR1	OMIM:609192
HP:0031816	Abnormal oral morphology	219844	HYLS1	ORPHA:2189
HP:0031816	Abnormal oral morphology	7042	TGFB2	OMIM:614816
HP:0031816	Abnormal oral morphology	4089	SMAD4	ORPHA:2588
HP:0031816	Abnormal oral morphology	2137	EXTL3	ORPHA:508533
HP:0031816	Abnormal oral morphology	5144	PDE4D	ORPHA:950
HP:0031816	Abnormal oral morphology	3763	KCNJ6	ORPHA:435628
HP:0031816	Abnormal oral morphology	3763	KCNJ6	OMIM:614098
HP:0031816	Abnormal oral morphology	23141	ANKLE2	OMIM:616681
HP:0031816	Abnormal oral morphology	8473	OGT	OMIM:300997
HP:0031816	Abnormal oral morphology	65062	TMEM237	OMIM:614424
HP:0031816	Abnormal oral morphology	53616	ADAM22	OMIM:617933
HP:0031816	Abnormal oral morphology	55777	MBD5	ORPHA:228402
HP:0031816	Abnormal oral morphology	55777	MBD5	OMIM:156200
HP:0031816	Abnormal oral morphology	118987	PDZD8	OMIM:620021
HP:0031816	Abnormal oral morphology	2629	GBA1	OMIM:608013
HP:0031816	Abnormal oral morphology	23126	POGZ	ORPHA:468678
HP:0031816	Abnormal oral morphology	10479	SLC9A6	OMIM:300243
HP:0031816	Abnormal oral morphology	6535	SLC6A8	ORPHA:52503
HP:0031816	Abnormal oral morphology	116931	MED12L	OMIM:618872
HP:0031816	Abnormal oral morphology	283489	CHAMP1	OMIM:616579
HP:0031816	Abnormal oral morphology	2314	FLII	ORPHA:819
HP:0031816	Abnormal oral morphology	23096	IQSEC2	ORPHA:819
HP:0031816	Abnormal oral morphology	10743	RAI1	ORPHA:819
HP:0031816	Abnormal oral morphology	3908	LAMA2	ORPHA:258
HP:0031816	Abnormal oral morphology	5980	REV3L	ORPHA:570
HP:0031816	Abnormal oral morphology	23129	PLXND1	ORPHA:570
HP:0031816	Abnormal oral morphology	84340	GFM2	ORPHA:565624
HP:0031816	Abnormal oral morphology	55870	ASH1L	OMIM:617796
HP:0031816	Abnormal oral morphology	9326	ZNHIT3	ORPHA:2836
HP:0031816	Abnormal oral morphology	9326	ZNHIT3	OMIM:260565
HP:0031816	Abnormal oral morphology	547	KIF1A	ORPHA:2836
HP:0031816	Abnormal oral morphology	23389	MED13L	ORPHA:369891
HP:0031816	Abnormal oral morphology	23389	MED13L	OMIM:616789
HP:0031816	Abnormal oral morphology	157680	VPS13B	OMIM:216550
HP:0031816	Abnormal oral morphology	157680	VPS13B	ORPHA:193
HP:0031816	Abnormal oral morphology	54806	AHI1	OMIM:608629
HP:0031816	Abnormal oral morphology	23258	DENND5A	OMIM:617281
HP:0031816	Abnormal oral morphology	4784	NFIX	ORPHA:561
HP:0031816	Abnormal oral morphology	5442	POLRMT	OMIM:619743
HP:0031816	Abnormal oral morphology	5528	PPP2R5D	OMIM:616355
HP:0031816	Abnormal oral morphology	79576	NKAP	OMIM:301039
HP:0031816	Abnormal oral morphology	1822	ATN1	OMIM:618494
HP:0031816	Abnormal oral morphology	2475	MTOR	ORPHA:457485
HP:0031816	Abnormal oral morphology	2475	MTOR	OMIM:616638
HP:0031816	Abnormal oral morphology	54551	MAGEL2	OMIM:615547
HP:0031816	Abnormal oral morphology	4247	MGAT2	OMIM:212066
HP:0031816	Abnormal oral morphology	4247	MGAT2	ORPHA:79329
HP:0031816	Abnormal oral morphology	5518	PPP2R1A	OMIM:616362
HP:0031816	Abnormal oral morphology	5518	PPP2R1A	ORPHA:457284
HP:0031816	Abnormal oral morphology	55768	NGLY1	OMIM:615273
HP:0031816	Abnormal oral morphology	5281	PIGF	OMIM:619356
HP:0031816	Abnormal oral morphology	57680	CHD8	OMIM:615032
HP:0031816	Abnormal oral morphology	5063	PAK3	OMIM:300558
HP:0031816	Abnormal oral morphology	1213	CLTC	OMIM:617854
HP:0031816	Abnormal oral morphology	285175	UNC80	OMIM:616801
HP:0031816	Abnormal oral morphology	3211	HOXB1	OMIM:614744
HP:0031816	Abnormal oral morphology	8905	AP1S2	ORPHA:85329
HP:0031816	Abnormal oral morphology	54828	BCAS3	OMIM:619641
HP:0031816	Abnormal oral morphology	4841	NONO	OMIM:300967
HP:0031816	Abnormal oral morphology	4841	NONO	ORPHA:466791
HP:0031816	Abnormal oral morphology	27086	FOXP1	ORPHA:391372
HP:0031816	Abnormal oral morphology	27086	FOXP1	OMIM:613670
HP:0031816	Abnormal oral morphology	6942	TCF20	OMIM:618430
HP:0031816	Abnormal oral morphology	57688	ZSWIM6	OMIM:617865
HP:0031816	Abnormal oral morphology	207	AKT1	OMIM:176920
HP:0031816	Abnormal oral morphology	55704	CCDC88A	OMIM:617507
HP:0031816	Abnormal oral morphology	200424	TET3	OMIM:618798
HP:0031816	Abnormal oral morphology	25973	PARS2	OMIM:618437
HP:0031816	Abnormal oral morphology	9993	DGCR2	OMIM:192430
HP:0031816	Abnormal oral morphology	8220	ESS2	OMIM:192430
HP:0031816	Abnormal oral morphology	8214	DGCR6	OMIM:192430
HP:0031816	Abnormal oral morphology	54487	DGCR8	OMIM:192430
HP:0031816	Abnormal oral morphology	6899	TBX1	OMIM:192430
HP:0031816	Abnormal oral morphology	8911	CACNA1I	OMIM:620114
HP:0031816	Abnormal oral morphology	51244	CCDC174	OMIM:616816
HP:0031816	Abnormal oral morphology	3756	KCNH1	ORPHA:420561
HP:0031816	Abnormal oral morphology	23556	PIGN	OMIM:614080
HP:0031816	Abnormal oral morphology	7030	TFE3	OMIM:301066
HP:0031816	Abnormal oral morphology	5879	RAC1	OMIM:617751
HP:0031816	Abnormal oral morphology	5879	RAC1	ORPHA:500159
HP:0031816	Abnormal oral morphology	29954	POMT2	OMIM:613156
HP:0031816	Abnormal oral morphology	11141	IL1RAPL1	OMIM:300143
HP:0031816	Abnormal oral morphology	1968	EIF2S3	OMIM:300148
HP:0031816	Abnormal oral morphology	27161	AGO2	OMIM:619149
HP:0031816	Abnormal oral morphology	9427	ECEL1	OMIM:615065
HP:0031816	Abnormal oral morphology	667	DST	OMIM:614653
HP:0031816	Abnormal oral morphology	22907	DHX30	OMIM:617804
HP:0031816	Abnormal oral morphology	1460	CSNK2B	OMIM:618732
HP:0031816	Abnormal oral morphology	80816	ASXL3	ORPHA:352577
HP:0031816	Abnormal oral morphology	7403	KDM6A	OMIM:300867
HP:0031816	Abnormal oral morphology	8626	TP63	OMIM:604292
HP:0031816	Abnormal oral morphology	5573	PRKAR1A	ORPHA:1359
HP:0031816	Abnormal oral morphology	50940	PDE11A	ORPHA:1359
HP:0031816	Abnormal oral morphology	8241	RBM10	ORPHA:2886
HP:0031816	Abnormal oral morphology	8241	RBM10	OMIM:311900
HP:0031816	Abnormal oral morphology	200894	ARL13B	ORPHA:475
HP:0031816	Abnormal oral morphology	9731	CEP104	ORPHA:475
HP:0031816	Abnormal oral morphology	219854	TMEM218	ORPHA:475
HP:0031816	Abnormal oral morphology	10464	PIBF1	ORPHA:475
HP:0031816	Abnormal oral morphology	80210	ARMC9	ORPHA:475
HP:0031816	Abnormal oral morphology	25776	CBY1	ORPHA:475
HP:0031816	Abnormal oral morphology	403	ARL3	ORPHA:475
HP:0031816	Abnormal oral morphology	26160	IFT172	OMIM:615630
HP:0031816	Abnormal oral morphology	81839	VANGL1	ORPHA:3027
HP:0031816	Abnormal oral morphology	80199	FUZ	ORPHA:3027
HP:0031816	Abnormal oral morphology	10436	EMG1	ORPHA:1270
HP:0031816	Abnormal oral morphology	2767	GNA11	ORPHA:1556
HP:0031816	Abnormal oral morphology	151188	ARL6IP6	ORPHA:1556
HP:0031816	Abnormal oral morphology	4072	EPCAM	ORPHA:92050
HP:0031816	Abnormal oral morphology	105371045	PERCC1	ORPHA:92050
HP:0031816	Abnormal oral morphology	84295	PHF6	ORPHA:127
HP:0031816	Abnormal oral morphology	8802	SUCLG1	ORPHA:17
HP:0031816	Abnormal oral morphology	8974	P4HA2	ORPHA:397
HP:0031816	Abnormal oral morphology	54676	GTPBP2	OMIM:617988
HP:0031816	Abnormal oral morphology	114803	MYSM1	ORPHA:508542
HP:0031816	Abnormal oral morphology	4323	MMP14	OMIM:277950
HP:0031816	Abnormal oral morphology	4313	MMP2	OMIM:259600
HP:0031816	Abnormal oral morphology	2776	GNAQ	ORPHA:3205
HP:0031816	Abnormal oral morphology	55315	SLC29A3	ORPHA:168569
HP:0031816	Abnormal oral morphology	875	CBS	ORPHA:394
HP:0031816	Abnormal oral morphology	875	CBS	OMIM:236200
HP:0031816	Abnormal oral morphology	2673	GFPT1	OMIM:608931
HP:0031816	Abnormal oral morphology	2673	GFPT1	ORPHA:353327
HP:0031816	Abnormal oral morphology	1145	CHRNE	OMIM:608931
HP:0031816	Abnormal oral morphology	1145	CHRNE	ORPHA:98913
HP:0031816	Abnormal oral morphology	5238	PGM3	ORPHA:443811
HP:0031816	Abnormal oral morphology	5238	PGM3	OMIM:615816
HP:0031816	Abnormal oral morphology	5184	PEPD	OMIM:170100
HP:0031816	Abnormal oral morphology	4625	MYH7	OMIM:160500
HP:0031816	Abnormal oral morphology	4625	MYH7	ORPHA:324604
HP:0031816	Abnormal oral morphology	4625	MYH7	OMIM:255160
HP:0031816	Abnormal oral morphology	4625	MYH7	ORPHA:59135
HP:0031816	Abnormal oral morphology	55154	MSTO1	OMIM:617675
HP:0031816	Abnormal oral morphology	55154	MSTO1	ORPHA:502423
HP:0031816	Abnormal oral morphology	79029	AFG2B	OMIM:619616
HP:0031816	Abnormal oral morphology	4620	MYH2	OMIM:605637
HP:0031816	Abnormal oral morphology	4330	MN1	OMIM:618774
HP:0031816	Abnormal oral morphology	8550	MAPKAPK5	OMIM:619869
HP:0031816	Abnormal oral morphology	4534	MTM1	ORPHA:596
HP:0031816	Abnormal oral morphology	4534	MTM1	OMIM:310400
HP:0031816	Abnormal oral morphology	4534	MTM1	ORPHA:456328
HP:0031816	Abnormal oral morphology	23259	DDHD2	OMIM:615033
HP:0031816	Abnormal oral morphology	23259	DDHD2	ORPHA:320380
HP:0031816	Abnormal oral morphology	92609	TIMM50	OMIM:617698
HP:0031816	Abnormal oral morphology	6329	SCN4A	OMIM:614198
HP:0031816	Abnormal oral morphology	6329	SCN4A	ORPHA:98913
HP:0031816	Abnormal oral morphology	56652	TWNK	OMIM:616138
HP:0031816	Abnormal oral morphology	163175	LGI4	OMIM:617468
HP:0031816	Abnormal oral morphology	8565	YARS1	OMIM:619418
HP:0031816	Abnormal oral morphology	10533	ATG7	OMIM:619422
HP:0031816	Abnormal oral morphology	5081	PAX7	OMIM:618578
HP:0031816	Abnormal oral morphology	2201	FBN2	ORPHA:115
HP:0031816	Abnormal oral morphology	2201	FBN2	OMIM:121050
HP:0031816	Abnormal oral morphology	57190	SELENON	ORPHA:324604
HP:0031816	Abnormal oral morphology	57190	SELENON	OMIM:602771
HP:0031816	Abnormal oral morphology	57190	SELENON	ORPHA:2020
HP:0031816	Abnormal oral morphology	8925	HERC1	OMIM:617011
HP:0031816	Abnormal oral morphology	8925	HERC1	ORPHA:457359
HP:0031816	Abnormal oral morphology	79912	PYROXD1	OMIM:617258
HP:0031816	Abnormal oral morphology	50814	NSDHL	ORPHA:251383
HP:0031816	Abnormal oral morphology	50814	NSDHL	OMIM:300831
HP:0031816	Abnormal oral morphology	5515	PPP2CA	OMIM:618354
HP:0031816	Abnormal oral morphology	3039	HBA1	ORPHA:98791
HP:0031816	Abnormal oral morphology	3040	HBA2	ORPHA:98791
HP:0031816	Abnormal oral morphology	51434	ANAPC7	OMIM:619699
HP:0031816	Abnormal oral morphology	1621	DBH	OMIM:223360
HP:0031816	Abnormal oral morphology	9758	FRMPD4	OMIM:300983
HP:0031816	Abnormal oral morphology	55975	KLHL7	OMIM:617055
HP:0031816	Abnormal oral morphology	348180	CTU2	OMIM:618142
HP:0031816	Abnormal oral morphology	3248	HPGD	OMIM:259100
HP:0031816	Abnormal oral morphology	23387	SIK3	OMIM:618162
HP:0031816	Abnormal oral morphology	1073	CFL2	OMIM:610687
HP:0031816	Abnormal oral morphology	1073	CFL2	ORPHA:171436
HP:0031816	Abnormal oral morphology	779	CACNA1S	OMIM:620246
HP:0031816	Abnormal oral morphology	9562	MINPP1	ORPHA:284339
HP:0031816	Abnormal oral morphology	65055	REEP1	OMIM:620011
HP:0031816	Abnormal oral morphology	50484	RRM2B	ORPHA:329336
HP:0031816	Abnormal oral morphology	246243	RNASEH1	ORPHA:329336
HP:0031816	Abnormal oral morphology	5784	PTPN14	OMIM:613611
HP:0031816	Abnormal oral morphology	29967	LRP12	OMIM:164310
HP:0031816	Abnormal oral morphology	23116	TOGARAM1	OMIM:619185
HP:0031816	Abnormal oral morphology	10056	FARSB	OMIM:613658
HP:0031816	Abnormal oral morphology	79759	ZNF668	OMIM:620194
HP:0031816	Abnormal oral morphology	8050	PDHX	OMIM:245349
HP:0031816	Abnormal oral morphology	1305	COL13A1	OMIM:616720
HP:0031816	Abnormal oral morphology	1305	COL13A1	ORPHA:98914
HP:0031816	Abnormal oral morphology	1305	COL13A1	ORPHA:98913
HP:0031816	Abnormal oral morphology	11133	KPTN	OMIM:615637
HP:0031816	Abnormal oral morphology	11133	KPTN	ORPHA:397612
HP:0031816	Abnormal oral morphology	6473	SHOX	OMIM:127300
HP:0031816	Abnormal oral morphology	6473	SHOX	ORPHA:314795
HP:0031816	Abnormal oral morphology	6473	SHOX	ORPHA:2632
HP:0031816	Abnormal oral morphology	84162	BLTP1	OMIM:617822
HP:0031816	Abnormal oral morphology	5075	PAX1	ORPHA:2792
HP:0031816	Abnormal oral morphology	25	ABL1	OMIM:617602
HP:0031816	Abnormal oral morphology	9997	SCO2	OMIM:604377
HP:0031816	Abnormal oral morphology	6182	MRPL12	OMIM:618951
HP:0031816	Abnormal oral morphology	60482	SLC5A7	ORPHA:98914
HP:0031816	Abnormal oral morphology	4649	MYO9A	ORPHA:98914
HP:0031816	Abnormal oral morphology	1103	CHAT	ORPHA:98914
HP:0031816	Abnormal oral morphology	6576	SLC25A1	ORPHA:98914
HP:0031816	Abnormal oral morphology	6843	VAMP1	ORPHA:98914
HP:0031816	Abnormal oral morphology	375790	AGRN	ORPHA:98914
HP:0031816	Abnormal oral morphology	375790	AGRN	ORPHA:98913
HP:0031816	Abnormal oral morphology	375790	AGRN	OMIM:615120
HP:0031816	Abnormal oral morphology	6616	SNAP25	ORPHA:98914
HP:0031816	Abnormal oral morphology	8292	COLQ	ORPHA:98915
HP:0031816	Abnormal oral morphology	3913	LAMB2	ORPHA:98915
HP:0031816	Abnormal oral morphology	1140	CHRNB1	ORPHA:98913
HP:0031816	Abnormal oral morphology	1140	CHRNB1	OMIM:616313
HP:0031816	Abnormal oral morphology	221264	AK9	ORPHA:98913
HP:0031816	Abnormal oral morphology	26503	SLC17A5	OMIM:269920
HP:0031816	Abnormal oral morphology	79875	THSD4	OMIM:619825
HP:0031816	Abnormal oral morphology	9853	RUSC2	OMIM:617773
HP:0031816	Abnormal oral morphology	10381	TUBB3	ORPHA:300570
HP:0031816	Abnormal oral morphology	85365	ALG2	OMIM:616228
HP:0031816	Abnormal oral morphology	85365	ALG2	OMIM:607906
HP:0031816	Abnormal oral morphology	85365	ALG2	ORPHA:353327
HP:0031816	Abnormal oral morphology	2626	GATA4	ORPHA:251071
HP:0031816	Abnormal oral morphology	1656	DDX6	OMIM:618653
HP:0031816	Abnormal oral morphology	1501	CTNND2	ORPHA:281
HP:0031816	Abnormal oral morphology	9037	SEMA5A	ORPHA:281
HP:0031816	Abnormal oral morphology	88	ACTN2	OMIM:618654
HP:0031816	Abnormal oral morphology	4632	MYL1	OMIM:618414
HP:0031816	Abnormal oral morphology	84665	MYPN	OMIM:617336
HP:0031816	Abnormal oral morphology	84665	MYPN	ORPHA:171881
HP:0031816	Abnormal oral morphology	84665	MYPN	ORPHA:171439
HP:0031816	Abnormal oral morphology	286	ANK1	ORPHA:251066
HP:0031816	Abnormal oral morphology	7841	MOGS	ORPHA:79330
HP:0031816	Abnormal oral morphology	7841	MOGS	OMIM:606056
HP:0031816	Abnormal oral morphology	2271	FH	OMIM:606812
HP:0031816	Abnormal oral morphology	3897	L1CAM	OMIM:304100
HP:0031816	Abnormal oral morphology	973	CD79A	ORPHA:33110
HP:0031816	Abnormal oral morphology	974	CD79B	ORPHA:33110
HP:0031816	Abnormal oral morphology	3543	IGLL1	ORPHA:33110
HP:0031816	Abnormal oral morphology	3507	IGHM	ORPHA:33110
HP:0031816	Abnormal oral morphology	29760	BLNK	ORPHA:33110
HP:0031816	Abnormal oral morphology	56262	LRRC8A	ORPHA:33110
HP:0031816	Abnormal oral morphology	56262	LRRC8A	OMIM:613506
HP:0031816	Abnormal oral morphology	353116	RILPL1	OMIM:619790
HP:0031816	Abnormal oral morphology	84706	GPT2	OMIM:616281
HP:0031816	Abnormal oral morphology	10466	COG5	ORPHA:263487
HP:0031816	Abnormal oral morphology	2530	FUT8	OMIM:618005
HP:0031816	Abnormal oral morphology	9451	EIF2AK3	OMIM:226980
HP:0031816	Abnormal oral morphology	5283	PIGH	OMIM:618010
HP:0031816	Abnormal oral morphology	84896	ATAD1	OMIM:618011
HP:0031816	Abnormal oral morphology	57187	THOC2	ORPHA:457240
HP:0031816	Abnormal oral morphology	668	FOXL2	OMIM:110100
HP:0031816	Abnormal oral morphology	23154	NCDN	OMIM:619373
HP:0031816	Abnormal oral morphology	2733	GLE1	OMIM:611890
HP:0031816	Abnormal oral morphology	1795	DOCK3	OMIM:618292
HP:0031816	Abnormal oral morphology	4702	NDUFA8	OMIM:619272
HP:0031816	Abnormal oral morphology	4574	MT-TS1	OMIM:220110
HP:0031816	Abnormal oral morphology	4570	MT-TN	OMIM:220110
HP:0031816	Abnormal oral morphology	6834	SURF1	OMIM:220110
HP:0031816	Abnormal oral morphology	1119	CHKA	OMIM:620023
HP:0031816	Abnormal oral morphology	23118	TAB2	ORPHA:228410
HP:0031816	Abnormal oral morphology	56203	LMOD3	ORPHA:171436
HP:0031816	Abnormal oral morphology	1798	DPAGT1	ORPHA:353327
HP:0031816	Abnormal oral morphology	199857	ALG14	ORPHA:353327
HP:0031816	Abnormal oral morphology	84987	COX14	OMIM:619053
HP:0031816	Abnormal oral morphology	1339	COX6A2	OMIM:619062
HP:0031816	Abnormal oral morphology	3679	ITGA7	ORPHA:2020
HP:0031816	Abnormal oral morphology	9200	HACD1	ORPHA:2020
HP:0031816	Abnormal oral morphology	51776	MAP3K20	ORPHA:2020
HP:0031816	Abnormal oral morphology	390594	KBTBD13	ORPHA:171439
HP:0031816	Abnormal oral morphology	50628	GEMIN4	OMIM:617913
HP:0031816	Abnormal oral morphology	9698	PUM1	OMIM:617931
HP:0031816	Abnormal oral morphology	5859	QARS1	OMIM:615760
HP:0031816	Abnormal oral morphology	3313	HSPA9	OMIM:616854
HP:0031816	Abnormal oral morphology	10525	HYOU1	OMIM:233600
HP:0031816	Abnormal oral morphology	10157	AASS	ORPHA:2203
HP:0031816	Abnormal oral morphology	30008	EFEMP2	OMIM:614437
HP:0031816	Abnormal oral morphology	26224	FBXL3	OMIM:606220
HP:0031816	Abnormal oral morphology	23511	NUP188	OMIM:618804
HP:0031816	Abnormal oral morphology	8405	SPOP	OMIM:618829
HP:0031816	Abnormal oral morphology	200205	IBA57	OMIM:615330
HP:0031816	Abnormal oral morphology	57731	SPTBN4	OMIM:617519
HP:0031816	Abnormal oral morphology	6736	SRY	ORPHA:1772
HP:0031816	Abnormal oral morphology	55753	OGDHL	OMIM:619701
HP:0031816	Abnormal oral morphology	9990	SLC12A6	OMIM:218000
HP:0031816	Abnormal oral morphology	104	ADARB1	OMIM:618862
HP:0031816	Abnormal oral morphology	3703	STT3A	OMIM:619714
HP:0031816	Abnormal oral morphology	4983	OPHN1	OMIM:300486
HP:0031816	Abnormal oral morphology	10026	PIGK	OMIM:618879
HP:0031816	Abnormal oral morphology	10978	CLP1	OMIM:615803
HP:0031816	Abnormal oral morphology	23325	WASHC4	OMIM:615817
HP:0031816	Abnormal oral morphology	79087	ALG12	OMIM:607143
HP:0031816	Abnormal oral morphology	79087	ALG12	ORPHA:79324
HP:0031816	Abnormal oral morphology	51651	PTRH2	ORPHA:456312
HP:0031816	Abnormal oral morphology	51651	PTRH2	OMIM:616263
HP:0031816	Abnormal oral morphology	23036	ZNF292	OMIM:619188
HP:0031816	Abnormal oral morphology	4953	ODC1	OMIM:619075
HP:0031816	Abnormal oral morphology	3098	HK1	OMIM:618547
HP:0031816	Abnormal oral morphology	53335	BCL11A	OMIM:617101
HP:0031816	Abnormal oral morphology	92002	CCNQ	ORPHA:140952
HP:0031816	Abnormal oral morphology	92002	CCNQ	OMIM:300707
HP:0031816	Abnormal oral morphology	81887	LAS1L	ORPHA:3459
HP:0031816	Abnormal oral morphology	10472	ZBTB18	OMIM:612337
HP:0031816	Abnormal oral morphology	1523	CUX1	OMIM:618330
HP:0031816	Abnormal oral morphology	6857	SYT1	OMIM:618218
HP:0031816	Abnormal oral morphology	6857	SYT1	ORPHA:522077
HP:0031816	Abnormal oral morphology	55628	ZNF407	OMIM:619557
HP:0031816	Abnormal oral morphology	7681	MKRN3	OMIM:176270
HP:0031816	Abnormal oral morphology	3653	IPW	OMIM:176270
HP:0031816	Abnormal oral morphology	791114	PWRN1	OMIM:176270
HP:0031816	Abnormal oral morphology	100033413	SNORD116-1	OMIM:176270
HP:0031816	Abnormal oral morphology	145624	PWAR1	OMIM:176270
HP:0031816	Abnormal oral morphology	23742	NPAP1	OMIM:176270
HP:0031816	Abnormal oral morphology	338433	SNORD115-1	OMIM:176270
HP:0031816	Abnormal oral morphology	6492	SIM1	ORPHA:398079
HP:0031816	Abnormal oral morphology	1725	DHPS	OMIM:618480
HP:0031816	Abnormal oral morphology	4692	NDN	ORPHA:177901
HP:0031816	Abnormal oral morphology	57211	ADGRG6	OMIM:616503
HP:0031816	Abnormal oral morphology	5718	PSMD12	ORPHA:529962
HP:0031816	Abnormal oral morphology	83696	TRAPPC9	ORPHA:352530
HP:0031816	Abnormal oral morphology	63932	STEEP1	OMIM:301013
HP:0031816	Abnormal oral morphology	23112	TNRC6B	OMIM:619243
HP:0031816	Abnormal oral morphology	10551	AGR2	OMIM:620233
HP:0031816	Abnormal oral morphology	55252	ASXL2	OMIM:617190
HP:0031816	Abnormal oral morphology	57020	VPS35L	OMIM:619135
HP:0031816	Abnormal oral morphology	178	AGL	OMIM:232400
HP:0031816	Abnormal oral morphology	4848	CNOT2	OMIM:618608
HP:0031816	Abnormal oral morphology	10079	ATP9A	OMIM:620242
HP:0031816	Abnormal oral morphology	9276	COPB2	ORPHA:2512
HP:0031816	Abnormal oral morphology	284403	WDR62	ORPHA:2512
HP:0031816	Abnormal oral morphology	55262	TRAPPC14	ORPHA:2512
HP:0031816	Abnormal oral morphology	163786	SASS6	ORPHA:2512
HP:0031816	Abnormal oral morphology	84879	MFSD2A	ORPHA:2512
HP:0031816	Abnormal oral morphology	4176	MCM7	ORPHA:2512
HP:0031816	Abnormal oral morphology	80254	CEP63	ORPHA:2512
HP:0031816	Abnormal oral morphology	23310	NCAPD3	ORPHA:2512
HP:0031816	Abnormal oral morphology	55755	CDK5RAP2	ORPHA:2512
HP:0031816	Abnormal oral morphology	79648	MCPH1	ORPHA:2512
HP:0031816	Abnormal oral morphology	259266	ASPM	ORPHA:2512
HP:0031816	Abnormal oral morphology	7109	TRAPPC10	ORPHA:2512
HP:0031816	Abnormal oral morphology	1911	PHC1	ORPHA:2512
HP:0031816	Abnormal oral morphology	6884	TAF13	ORPHA:2512
HP:0031816	Abnormal oral morphology	9662	CEP135	ORPHA:2512
HP:0031816	Abnormal oral morphology	57082	KNL1	ORPHA:2512
HP:0031816	Abnormal oral morphology	1021	CDK6	ORPHA:2512
HP:0031816	Abnormal oral morphology	84617	TUBB6	OMIM:617732
HP:0031816	Abnormal oral morphology	8242	KDM5C	OMIM:300534
HP:0031816	Abnormal oral morphology	8518	ELP1	OMIM:223900
HP:0031816	Abnormal oral morphology	54463	RETREG1	OMIM:201300
HP:0031816	Abnormal oral morphology	65125	WNK1	OMIM:201300
HP:0031816	Abnormal oral morphology	6335	SCN9A	OMIM:201300
HP:0031816	Abnormal oral morphology	3674	ITGA2B	OMIM:273800
HP:0031816	Abnormal oral morphology	3674	ITGA2B	ORPHA:849
HP:0031816	Abnormal oral morphology	2811	GP1BA	OMIM:153670
HP:0031816	Abnormal oral morphology	2811	GP1BA	ORPHA:274
HP:0031816	Abnormal oral morphology	2811	GP1BA	OMIM:231200
HP:0031816	Abnormal oral morphology	7454	WAS	OMIM:301000
HP:0031816	Abnormal oral morphology	7454	WAS	ORPHA:906
HP:0031816	Abnormal oral morphology	2815	GP9	ORPHA:274
HP:0031816	Abnormal oral morphology	2815	GP9	OMIM:231200
HP:0031816	Abnormal oral morphology	2243	FGA	OMIM:202400
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:98880
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:98881
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:101041
HP:0031816	Abnormal oral morphology	2244	FGB	OMIM:202400
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:98880
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:98881
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:101041
HP:0031816	Abnormal oral morphology	2266	FGG	OMIM:202400
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:98880
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:98881
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:101041
HP:0031816	Abnormal oral morphology	10068	IL18BP	OMIM:618549
HP:0031816	Abnormal oral morphology	3257	HPS1	OMIM:203300
HP:0031816	Abnormal oral morphology	7456	WIPF1	ORPHA:906
HP:0031816	Abnormal oral morphology	5345	SERPINF2	ORPHA:79
HP:0031816	Abnormal oral morphology	84343	HPS3	OMIM:614072
HP:0031816	Abnormal oral morphology	388552	BLOC1S3	OMIM:614077
HP:0031816	Abnormal oral morphology	3998	LMAN1	ORPHA:35909
HP:0031816	Abnormal oral morphology	90411	MCFD2	ORPHA:35909
HP:0031816	Abnormal oral morphology	2162	F13A1	OMIM:613225
HP:0031816	Abnormal oral morphology	2162	F13A1	ORPHA:331
HP:0031816	Abnormal oral morphology	2165	F13B	ORPHA:331
HP:0031816	Abnormal oral morphology	9493	KIF23	ORPHA:98870
HP:0031816	Abnormal oral morphology	29127	RACGAP1	ORPHA:98870
HP:0031816	Abnormal oral morphology	63915	BLOC1S5	OMIM:619172
HP:0031816	Abnormal oral morphology	5551	PRF1	ORPHA:88
HP:0031816	Abnormal oral morphology	2159	F10	OMIM:227600
HP:0031816	Abnormal oral morphology	2159	F10	ORPHA:328
HP:0031816	Abnormal oral morphology	2157	F8	ORPHA:169805
HP:0031816	Abnormal oral morphology	4352	MPL	ORPHA:729
HP:0031816	Abnormal oral morphology	3717	JAK2	ORPHA:729
HP:0031816	Abnormal oral morphology	54790	TET2	ORPHA:729
HP:0031816	Abnormal oral morphology	3690	ITGB3	ORPHA:849
HP:0031816	Abnormal oral morphology	2147	F2	OMIM:613679
HP:0031816	Abnormal oral morphology	9103	FCGR2C	ORPHA:3002
HP:0031816	Abnormal oral morphology	2155	F7	ORPHA:327
HP:0031816	Abnormal oral morphology	2153	F5	ORPHA:326
HP:0031816	Abnormal oral morphology	4615	MYD88	ORPHA:33226
HP:0031816	Abnormal oral morphology	950	SCARB2	ORPHA:77259
HP:0031816	Abnormal oral morphology	340024	SLC6A19	ORPHA:2116
HP:0031816	Abnormal oral morphology	57393	CLTRN	ORPHA:2116
HP:0031816	Abnormal oral morphology	6785	ELOVL4	OMIM:614457
HP:0031816	Abnormal oral morphology	54809	SAMD9	OMIM:610455
HP:0031816	Abnormal oral morphology	1536	CYBB	ORPHA:379
HP:0031816	Abnormal oral morphology	4688	NCF2	ORPHA:379
HP:0031816	Abnormal oral morphology	1535	CYBA	ORPHA:379
HP:0031816	Abnormal oral morphology	4689	NCF4	ORPHA:379
HP:0031816	Abnormal oral morphology	26235	FBXL4	OMIM:615471
HP:0031816	Abnormal oral morphology	2296	FOXC1	ORPHA:782
HP:0031816	Abnormal oral morphology	4190	MDH1	OMIM:618959
HP:0031816	Abnormal oral morphology	57192	MCOLN1	ORPHA:578
HP:0031816	Abnormal oral morphology	5080	PAX6	ORPHA:893
HP:0031816	Abnormal oral morphology	627	BDNF	ORPHA:893
HP:0031816	Abnormal oral morphology	7490	WT1	ORPHA:893
HP:0031816	Abnormal oral morphology	79989	IFT56	OMIM:619534
HP:0031816	Abnormal oral morphology	138050	HGSNAT	OMIM:252930
HP:0031816	Abnormal oral morphology	65992	DDRGK1	OMIM:602557
HP:0031816	Abnormal oral morphology	50651	SLC45A1	OMIM:617532
HP:0031816	Abnormal oral morphology	10765	KDM5B	OMIM:618109
HP:0031816	Abnormal oral morphology	9526	MPDU1	OMIM:609180
HP:0031816	Abnormal oral morphology	9526	MPDU1	ORPHA:79323
HP:0031816	Abnormal oral morphology	7518	XRCC4	ORPHA:99812
HP:0031816	Abnormal oral morphology	137814	NKX2-6	ORPHA:3303
HP:0031816	Abnormal oral morphology	23414	ZFPM2	ORPHA:3303
HP:0031816	Abnormal oral morphology	3791	KDR	ORPHA:3303
HP:0031816	Abnormal oral morphology	2627	GATA6	ORPHA:3303
HP:0031816	Abnormal oral morphology	2657	GDF1	ORPHA:3303
HP:0031816	Abnormal oral morphology	182	JAG1	ORPHA:3303
HP:0031816	Abnormal oral morphology	140628	GATA5	ORPHA:3303
HP:0031816	Abnormal oral morphology	2324	FLT4	ORPHA:3303
HP:0031816	Abnormal oral morphology	10370	CITED2	ORPHA:3303
HP:0031816	Abnormal oral morphology	90161	HS6ST2	OMIM:301025
HP:0031816	Abnormal oral morphology	9692	PRORP	OMIM:619737
HP:0031816	Abnormal oral morphology	2752	GLUL	OMIM:610015
HP:0031816	Abnormal oral morphology	2332	FMR1	ORPHA:261483
HP:0031816	Abnormal oral morphology	8815	BANF1	OMIM:614008
HP:0031816	Abnormal oral morphology	4693	NDP	ORPHA:649
HP:0031816	Abnormal oral morphology	56052	ALG1	OMIM:608540
HP:0031816	Abnormal oral morphology	54872	PIGG	ORPHA:280
HP:0031816	Abnormal oral morphology	7469	NELFA	ORPHA:280
HP:0031816	Abnormal oral morphology	6711	SPTBN1	OMIM:619475
HP:0031816	Abnormal oral morphology	55107	ANO1	OMIM:620045
HP:0031816	Abnormal oral morphology	79718	TBL1XR1	OMIM:602342
HP:0031816	Abnormal oral morphology	79718	TBL1XR1	ORPHA:487825
HP:0031816	Abnormal oral morphology	5881	RAC3	OMIM:618577
HP:0031816	Abnormal oral morphology	55780	ERMARD	ORPHA:75857
HP:0031816	Abnormal oral morphology	10087	CERT1	OMIM:616351
HP:0031816	Abnormal oral morphology	22884	WDR37	OMIM:618652
HP:0031816	Abnormal oral morphology	5792	PTPRF	OMIM:616001
HP:0031816	Abnormal oral morphology	285362	SUMF1	ORPHA:585
HP:0031816	Abnormal oral morphology	8943	AP3D1	OMIM:617050
HP:0031816	Abnormal oral morphology	84265	POLR3GL	OMIM:619234
HP:0031816	Abnormal oral morphology	5052	PRDX1	OMIM:277400
HP:0031816	Abnormal oral morphology	10559	SLC35A1	OMIM:603585
HP:0031816	Abnormal oral morphology	26038	CHD5	OMIM:619873
HP:0031816	Abnormal oral morphology	4849	CNOT3	OMIM:618672
HP:0031816	Abnormal oral morphology	3658	IREB2	OMIM:618451
HP:0031816	Abnormal oral morphology	29926	GMPPA	OMIM:615510
HP:0031816	Abnormal oral morphology	5702	PSMC3	OMIM:619354
HP:0031816	Abnormal oral morphology	51317	PHF21A	ORPHA:52022
HP:0031816	Abnormal oral morphology	83737	ITCH	OMIM:613385
HP:0031816	Abnormal oral morphology	2893	GRIA4	OMIM:617864
HP:0031816	Abnormal oral morphology	11043	MID2	OMIM:300928
HP:0031816	Abnormal oral morphology	2036	EPB41L1	OMIM:614257
HP:0031816	Abnormal oral morphology	51399	TRAPPC4	OMIM:618741
HP:0031816	Abnormal oral morphology	28981	IFT81	OMIM:617895
HP:0031816	Abnormal oral morphology	8425	LTBP4	OMIM:613177
HP:0031816	Abnormal oral morphology	7360	UGP2	OMIM:618744
HP:0031816	Abnormal oral morphology	3021	H3-3B	OMIM:619721
HP:0031816	Abnormal oral morphology	51741	WWOX	OMIM:616211
HP:0031816	Abnormal oral morphology	55790	CSGALNACT1	OMIM:618870
HP:0031816	Abnormal oral morphology	79868	ALG13	ORPHA:324422
HP:0031816	Abnormal oral morphology	818	CAMK2G	OMIM:618522
HP:0031816	Abnormal oral morphology	79184	BRCC3	ORPHA:280679
HP:0031816	Abnormal oral morphology	55714	TENM3	OMIM:615145
HP:0031816	Abnormal oral morphology	55012	PPP2R3C	OMIM:618419
HP:0031816	Abnormal oral morphology	1499	CTNNB1	ORPHA:404473
HP:0031816	Abnormal oral morphology	1499	CTNNB1	OMIM:615075
HP:0031816	Abnormal oral morphology	29081	METTL5	OMIM:618665
HP:0031816	Abnormal oral morphology	51633	OTUD6B	OMIM:617452
HP:0031816	Abnormal oral morphology	51633	OTUD6B	ORPHA:505237
HP:0031816	Abnormal oral morphology	2683	B4GALT1	ORPHA:79332
HP:0031816	Abnormal oral morphology	84188	FAR1	OMIM:616154
HP:0031816	Abnormal oral morphology	84188	FAR1	ORPHA:438178
HP:0031816	Abnormal oral morphology	4921	DDR2	OMIM:271665
HP:0031816	Abnormal oral morphology	30000	TNPO2	OMIM:619556
HP:0031816	Abnormal oral morphology	3417	IDH1	ORPHA:99646
HP:0031816	Abnormal oral morphology	16	AARS1	OMIM:619691
HP:0031816	Abnormal oral morphology	54496	PRMT7	OMIM:617157
HP:0031816	Abnormal oral morphology	54496	PRMT7	ORPHA:464288
HP:0031816	Abnormal oral morphology	10082	GPC6	OMIM:258315
HP:0031816	Abnormal oral morphology	10082	GPC6	ORPHA:93329
HP:0031816	Abnormal oral morphology	551	AVP	OMIM:125700
HP:0031816	Abnormal oral morphology	5831	PYCR1	OMIM:612940
HP:0031816	Abnormal oral morphology	29920	PYCR2	ORPHA:481152
HP:0031816	Abnormal oral morphology	29920	PYCR2	OMIM:616420
HP:0031816	Abnormal oral morphology	164	AP1G1	OMIM:619467
HP:0031816	Abnormal oral morphology	11212	PLPBP	OMIM:617290
HP:0031816	Abnormal oral morphology	8812	CCNK	OMIM:618147
HP:0031816	Abnormal oral morphology	440138	ALG11	ORPHA:280071
HP:0031816	Abnormal oral morphology	4781	NFIB	OMIM:618286
HP:0031816	Abnormal oral morphology	51594	NBAS	OMIM:614800
HP:0031816	Abnormal oral morphology	3295	HSD17B4	OMIM:261515
HP:0031816	Abnormal oral morphology	55901	THSD1	OMIM:620244
HP:0031816	Abnormal oral morphology	84842	HPDL	OMIM:619026
HP:0031816	Abnormal oral morphology	6309	SC5D	ORPHA:46059
HP:0031816	Abnormal oral morphology	6309	SC5D	OMIM:607330
HP:0031816	Abnormal oral morphology	25782	RAB3GAP2	OMIM:212720
HP:0031816	Abnormal oral morphology	1185	CLCN6	OMIM:619173
HP:0031816	Abnormal oral morphology	55148	UBR7	OMIM:619189
HP:0031816	Abnormal oral morphology	23265	EXOC7	OMIM:619072
HP:0031816	Abnormal oral morphology	51660	MPC1	OMIM:614741
HP:0031816	Abnormal oral morphology	23345	SYNE1	ORPHA:319332
HP:0031816	Abnormal oral morphology	55719	SLF2	OMIM:620184
HP:0031816	Abnormal oral morphology	283209	PGM2L1	OMIM:620191
HP:0031816	Abnormal oral morphology	5591	PRKDC	OMIM:615966
HP:0031816	Abnormal oral morphology	80324	PUS1	ORPHA:2598
HP:0031816	Abnormal oral morphology	51067	YARS2	ORPHA:2598
HP:0031816	Abnormal oral morphology	28962	OSTM1	OMIM:259720
HP:0031816	Abnormal oral morphology	55023	PHIP	ORPHA:589905
HP:0031816	Abnormal oral morphology	55023	PHIP	OMIM:617991
HP:0031816	Abnormal oral morphology	10586	MAB21L2	OMIM:615877
HP:0031816	Abnormal oral morphology	85358	SHANK3	OMIM:606232
HP:0031816	Abnormal oral morphology	5160	PDHA1	OMIM:312170
HP:0031816	Abnormal oral morphology	169792	GLIS3	OMIM:610199
HP:0031816	Abnormal oral morphology	79731	NARS2	ORPHA:79134
HP:0031816	Abnormal oral morphology	5053	PAH	ORPHA:2209
HP:0031816	Abnormal oral morphology	84679	SLC9A7	OMIM:301024
HP:0031816	Abnormal oral morphology	10352	WARS2	OMIM:617710
HP:0031816	Abnormal oral morphology	1000	CDH2	OMIM:618929
HP:0031816	Abnormal oral morphology	1861	TOR1A	OMIM:618947
HP:0031816	Abnormal oral morphology	4659	PPP1R12A	OMIM:618820
HP:0031816	Abnormal oral morphology	91461	PKDCC	OMIM:618821
HP:0031816	Abnormal oral morphology	28957	MRPS28	OMIM:618958
HP:0031816	Abnormal oral morphology	113246	C12orf57	OMIM:218340
HP:0031816	Abnormal oral morphology	6591	SNAI2	ORPHA:2884
HP:0031816	Abnormal oral morphology	3815	KIT	ORPHA:2884
HP:0031816	Abnormal oral morphology	523	ATP6V1A	ORPHA:357074
HP:0031816	Abnormal oral morphology	84700	MYO18B	OMIM:616549
HP:0031816	Abnormal oral morphology	23404	EXOSC2	OMIM:617763
HP:0031816	Abnormal oral morphology	92935	MARS2	OMIM:616430
HP:0031816	Abnormal oral morphology	22861	NLRP1	OMIM:615225
HP:0031816	Abnormal oral morphology	9181	ARHGEF2	OMIM:617523
HP:0031816	Abnormal oral morphology	10749	KIF1C	ORPHA:397946
HP:0031816	Abnormal oral morphology	51728	POLR3K	OMIM:619310
HP:0031816	Abnormal oral morphology	51	ACOX1	ORPHA:2971
HP:0031816	Abnormal oral morphology	55593	OTUD5	OMIM:301056
HP:0031816	Abnormal oral morphology	387119	CEP85L	OMIM:618873
HP:0031816	Abnormal oral morphology	6926	TBX3	ORPHA:3138
HP:0031816	Abnormal oral morphology	6926	TBX3	OMIM:181450
HP:0031816	Abnormal oral morphology	3737	KCNA2	ORPHA:442835
HP:0031816	Abnormal oral morphology	8120	AP3B2	ORPHA:442835
HP:0031816	Abnormal oral morphology	10991	SLC38A3	ORPHA:442835
HP:0031816	Abnormal oral morphology	51343	FZR1	ORPHA:442835
HP:0031816	Abnormal oral morphology	22906	TRAK1	ORPHA:442835
HP:0031816	Abnormal oral morphology	2566	GABRG2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2561	GABRB2	ORPHA:442835
HP:0031816	Abnormal oral morphology	7532	YWHAG	ORPHA:442835
HP:0031816	Abnormal oral morphology	79876	UBA5	ORPHA:442835
HP:0031816	Abnormal oral morphology	6328	SCN3A	ORPHA:442835
HP:0031816	Abnormal oral morphology	2558	GABRA5	ORPHA:442835
HP:0031816	Abnormal oral morphology	2906	GRIN2D	ORPHA:442835
HP:0031816	Abnormal oral morphology	116150	NUS1	ORPHA:442835
HP:0031816	Abnormal oral morphology	10659	CELF2	ORPHA:442835
HP:0031816	Abnormal oral morphology	774	CACNA1B	ORPHA:442835
HP:0031816	Abnormal oral morphology	23334	SZT2	ORPHA:442835
HP:0031816	Abnormal oral morphology	348980	HCN1	ORPHA:442835
HP:0031816	Abnormal oral morphology	8867	SYNJ1	ORPHA:442835
HP:0031816	Abnormal oral morphology	2258	FGF13	ORPHA:442835
HP:0031816	Abnormal oral morphology	3745	KCNB1	ORPHA:442835
HP:0031816	Abnormal oral morphology	25977	NECAP1	ORPHA:442835
HP:0031816	Abnormal oral morphology	6334	SCN8A	ORPHA:442835
HP:0031816	Abnormal oral morphology	22866	CNKSR2	ORPHA:442835
HP:0031816	Abnormal oral morphology	9568	GABBR2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2555	GABRA2	ORPHA:442835
HP:0031816	Abnormal oral morphology	55152	DALRD3	ORPHA:442835
HP:0031816	Abnormal oral morphology	4915	NTRK2	ORPHA:442835
HP:0031816	Abnormal oral morphology	64801	ARV1	ORPHA:442835
HP:0031816	Abnormal oral morphology	79947	DHDDS	ORPHA:442835
HP:0031816	Abnormal oral morphology	2257	FGF12	ORPHA:442835
HP:0031816	Abnormal oral morphology	11342	RNF13	ORPHA:544503
HP:0031816	Abnormal oral morphology	229	ALDOB	OMIM:229600
HP:0031816	Abnormal oral morphology	84701	COX4I2	OMIM:612714
HP:0031816	Abnormal oral morphology	8643	PTCH2	ORPHA:377
HP:0031816	Abnormal oral morphology	166929	SGMS2	OMIM:126550
HP:0031816	Abnormal oral morphology	1235	CCR6	ORPHA:220393
HP:0031816	Abnormal oral morphology	1490	CCN2	ORPHA:220393
HP:0031816	Abnormal oral morphology	3663	IRF5	ORPHA:220393
HP:0031816	Abnormal oral morphology	80067	DCAF17	OMIM:241080
HP:0031816	Abnormal oral morphology	80067	DCAF17	ORPHA:3464
HP:0031816	Abnormal oral morphology	10667	FARS2	ORPHA:466722
HP:0031816	Abnormal oral morphology	25871	NEPRO	OMIM:618853
HP:0031816	Abnormal oral morphology	56172	ANKH	OMIM:123000
HP:0031816	Abnormal oral morphology	9895	TECPR2	OMIM:615031
HP:0031816	Abnormal oral morphology	9895	TECPR2	ORPHA:320385
HP:0031816	Abnormal oral morphology	57498	KIDINS220	OMIM:617296
HP:0031816	Abnormal oral morphology	284361	EMC10	OMIM:619264
HP:0031816	Abnormal oral morphology	816	CAMK2B	OMIM:617799
HP:0031816	Abnormal oral morphology	10083	USH1C	ORPHA:231169
HP:0031816	Abnormal oral morphology	124590	USH1G	ORPHA:231169
HP:0031816	Abnormal oral morphology	83715	ESPN	ORPHA:231169
HP:0031816	Abnormal oral morphology	10518	CIB2	ORPHA:231169
HP:0031816	Abnormal oral morphology	65217	PCDH15	ORPHA:231169
HP:0031816	Abnormal oral morphology	3479	IGF1	ORPHA:73272
HP:0031816	Abnormal oral morphology	55703	POLR3B	OMIM:614381
HP:0031816	Abnormal oral morphology	8200	GDF5	ORPHA:63442
HP:0031816	Abnormal oral morphology	6821	SUOX	OMIM:272300
HP:0031816	Abnormal oral morphology	54	ACP5	ORPHA:1855
HP:0031816	Abnormal oral morphology	7040	TGFB1	ORPHA:1328
HP:0031816	Abnormal oral morphology	60676	PAPPA2	OMIM:619489
HP:0031816	Abnormal oral morphology	5744	PTHLH	OMIM:613382
HP:0031816	Abnormal oral morphology	6506	SLC1A2	OMIM:617105
HP:0031816	Abnormal oral morphology	26115	TANC2	OMIM:618906
HP:0031816	Abnormal oral morphology	90	ACVR1	OMIM:135100
HP:0031816	Abnormal oral morphology	3340	NDST1	OMIM:616116
HP:0031816	Abnormal oral morphology	4677	NARS1	OMIM:619092
HP:0031816	Abnormal oral morphology	7102	TSPAN7	OMIM:300210
HP:0031816	Abnormal oral morphology	5130	PCYT1A	OMIM:608940
HP:0031816	Abnormal oral morphology	5361	PLXNA1	OMIM:619955
HP:0031816	Abnormal oral morphology	92255	LMBRD2	OMIM:619694
HP:0031816	Abnormal oral morphology	341208	HEPHL1	OMIM:261990
HP:0031816	Abnormal oral morphology	50964	SOST	OMIM:269500
HP:0031816	Abnormal oral morphology	7407	VARS1	OMIM:617802
HP:0031816	Abnormal oral morphology	4868	NPHS1	ORPHA:839
HP:0031816	Abnormal oral morphology	4792	NFKBIA	OMIM:612132
HP:0031816	Abnormal oral morphology	51109	RDH11	ORPHA:436245
HP:0031816	Abnormal oral morphology	79879	CCDC134	OMIM:619795
HP:0031816	Abnormal oral morphology	5034	P4HB	OMIM:112240
HP:0031816	Abnormal oral morphology	10491	CRTAP	OMIM:610682
HP:0031816	Abnormal oral morphology	5479	PPIB	OMIM:259440
HP:0031816	Abnormal oral morphology	1278	COL1A2	OMIM:259420
HP:0031816	Abnormal oral morphology	1278	COL1A2	OMIM:166220
HP:0031816	Abnormal oral morphology	6678	SPARC	OMIM:616507
HP:0031816	Abnormal oral morphology	387733	IFITM5	OMIM:610967
HP:0031816	Abnormal oral morphology	9871	SEC24D	OMIM:616294
HP:0031816	Abnormal oral morphology	5176	SERPINF1	OMIM:613982
HP:0031816	Abnormal oral morphology	649	BMP1	OMIM:614856
HP:0031816	Abnormal oral morphology	871	SERPINH1	OMIM:613848
HP:0031816	Abnormal oral morphology	64175	P3H1	OMIM:610915
HP:0031816	Abnormal oral morphology	3689	ITGB2	OMIM:116920
HP:0031816	Abnormal oral morphology	8546	AP3B1	OMIM:608233
HP:0031816	Abnormal oral morphology	5340	PLG	ORPHA:722
HP:0031816	Abnormal oral morphology	5340	PLG	OMIM:217090
HP:0031816	Abnormal oral morphology	6603	SMARCD2	OMIM:617475
HP:0031816	Abnormal oral morphology	84876	ORAI1	OMIM:612782
HP:0031816	Abnormal oral morphology	6786	STIM1	OMIM:612783
HP:0031816	Abnormal oral morphology	55858	TMEM165	OMIM:614727
HP:0031816	Abnormal oral morphology	149461	CLDN19	OMIM:248190
HP:0031816	Abnormal oral morphology	9131	AIFM1	ORPHA:238329
HP:0031816	Abnormal oral morphology	9131	AIFM1	OMIM:300816
HP:0031816	Abnormal oral morphology	10558	SPTLC1	OMIM:162400
HP:0031816	Abnormal oral morphology	427	ASAH1	OMIM:159950
HP:0031816	Abnormal oral morphology	6904	TBCD	OMIM:617193
HP:0031816	Abnormal oral morphology	11340	EXOSC8	OMIM:616081
HP:0031816	Abnormal oral morphology	11340	EXOSC8	ORPHA:2254
HP:0031816	Abnormal oral morphology	23250	ATP11A	OMIM:619851
HP:0031816	Abnormal oral morphology	5393	EXOSC9	OMIM:618065
HP:0031816	Abnormal oral morphology	5393	EXOSC9	ORPHA:2254
HP:0031816	Abnormal oral morphology	4724	NDUFS4	OMIM:252010
HP:0031816	Abnormal oral morphology	7317	UBA1	ORPHA:1145
HP:0031816	Abnormal oral morphology	7317	UBA1	OMIM:301830
HP:0031816	Abnormal oral morphology	64856	VWA1	OMIM:619216
HP:0031816	Abnormal oral morphology	55005	RMND1	OMIM:614922
HP:0031816	Abnormal oral morphology	7415	VCP	ORPHA:329475
HP:0031816	Abnormal oral morphology	23287	AGTPBP1	ORPHA:2254
HP:0031816	Abnormal oral morphology	23287	AGTPBP1	OMIM:618276
HP:0031816	Abnormal oral morphology	7443	VRK1	ORPHA:2254
HP:0031816	Abnormal oral morphology	7443	VRK1	OMIM:607596
HP:0031816	Abnormal oral morphology	6606	SMN1	OMIM:271150
HP:0031816	Abnormal oral morphology	6606	SMN1	OMIM:253300
HP:0031816	Abnormal oral morphology	6606	SMN1	OMIM:253400
HP:0031816	Abnormal oral morphology	6606	SMN1	OMIM:253550
HP:0031816	Abnormal oral morphology	8087	FXR1	OMIM:618822
HP:0031816	Abnormal oral morphology	8087	FXR1	OMIM:618823
HP:0031816	Abnormal oral morphology	6607	SMN2	OMIM:253400
HP:0031816	Abnormal oral morphology	79581	SLC52A2	OMIM:614707
HP:0031816	Abnormal oral morphology	112476	PRRT2	ORPHA:569
HP:0031816	Abnormal oral morphology	54936	ADPRS	OMIM:618170
HP:0031816	Abnormal oral morphology	7259	TSPYL1	OMIM:608800
HP:0031816	Abnormal oral morphology	127833	SYT2	OMIM:619461
HP:0031816	Abnormal oral morphology	400916	CHCHD10	ORPHA:276435
HP:0031816	Abnormal oral morphology	89874	SLC25A21	OMIM:618811
HP:0031816	Abnormal oral morphology	4359	MPZ	OMIM:145900
HP:0031816	Abnormal oral morphology	5376	PMP22	OMIM:145900
HP:0031816	Abnormal oral morphology	1959	EGR2	OMIM:145900
HP:0031816	Abnormal oral morphology	57716	PRX	OMIM:145900
HP:0031816	Abnormal oral morphology	158326	FREM1	OMIM:608980
HP:0031816	Abnormal oral morphology	738	VPS51	OMIM:618606
HP:0031816	Abnormal oral morphology	64388	GREM2	OMIM:617275
HP:0031816	Abnormal oral morphology	9653	HS2ST1	OMIM:619194
HP:0031816	Abnormal oral morphology	50801	KCNK4	OMIM:618381
HP:0031816	Abnormal oral morphology	253738	EBF3	OMIM:617330
HP:0031816	Abnormal oral morphology	8367	H4C5	OMIM:619950
HP:0031816	Abnormal oral morphology	8294	H4C9	OMIM:619951
HP:0031816	Abnormal oral morphology	94005	PIGS	OMIM:618143
HP:0031816	Abnormal oral morphology	3572	IL6ST	OMIM:619750
HP:0031816	Abnormal oral morphology	4683	NBN	OMIM:251260
HP:0031816	Abnormal oral morphology	4683	NBN	ORPHA:647
HP:0031816	Abnormal oral morphology	51126	NAA20	OMIM:619717
HP:0031816	Abnormal oral morphology	6885	MAP3K7	OMIM:617137
HP:0031816	Abnormal oral morphology	26053	AUTS2	OMIM:615834
HP:0031816	Abnormal oral morphology	673	BRAF	OMIM:115150
HP:0031816	Abnormal oral morphology	55627	SMPD4	OMIM:618622
HP:0031816	Abnormal oral morphology	8818	DPM2	ORPHA:329178
HP:0031816	Abnormal oral morphology	2131	EXT1	ORPHA:502
HP:0031816	Abnormal oral morphology	55209	SETD5	ORPHA:404440
HP:0031816	Abnormal oral morphology	7707	ZNF148	OMIM:617260
HP:0031816	Abnormal oral morphology	4893	NRAS	OMIM:137550
HP:0031816	Abnormal oral morphology	1806	DPYD	ORPHA:1675
HP:0031816	Abnormal oral morphology	5500	PPP1CB	OMIM:617506
HP:0031816	Abnormal oral morphology	5500	PPP1CB	ORPHA:2701
HP:0031816	Abnormal oral morphology	64093	SMOC1	OMIM:206920
HP:0031816	Abnormal oral morphology	9915	ARNT2	OMIM:615926
HP:0031816	Abnormal oral morphology	6925	TCF4	OMIM:610954
HP:0031816	Abnormal oral morphology	57231	SNX14	ORPHA:397709
HP:0031816	Abnormal oral morphology	4626	MYH8	OMIM:158300
HP:0031816	Abnormal oral morphology	4256	MGP	OMIM:245150
HP:0031816	Abnormal oral morphology	114034	TOE1	OMIM:614969
HP:0031816	Abnormal oral morphology	3339	HSPG2	OMIM:255800
HP:0031816	Abnormal oral morphology	22856	CHSY1	OMIM:605282
HP:0031816	Abnormal oral morphology	8726	EED	ORPHA:3447
HP:0031816	Abnormal oral morphology	23512	SUZ12	ORPHA:3447
HP:0031816	Abnormal oral morphology	2146	EZH2	ORPHA:3447
HP:0031816	Abnormal oral morphology	7546	ZIC2	OMIM:609637
HP:0031816	Abnormal oral morphology	6792	CDKL5	ORPHA:505652
HP:0031816	Abnormal oral morphology	6261	RYR1	OMIM:619542
HP:0031816	Abnormal oral morphology	3832	KIF11	OMIM:152950
HP:0031816	Abnormal oral morphology	5087	PBX1	OMIM:617641
HP:0031816	Abnormal oral morphology	5567	PRKACB	OMIM:619143
HP:0031816	Abnormal oral morphology	26173	INTS1	OMIM:618571
HP:0031816	Abnormal oral morphology	867	CBL	OMIM:613563
HP:0031816	Abnormal oral morphology	8036	SHOC2	ORPHA:2701
HP:0031816	Abnormal oral morphology	51025	PAM16	OMIM:613320
HP:0031816	Abnormal oral morphology	4858	NOVA2	OMIM:618859
HP:0031816	Abnormal oral morphology	7020	TFAP2A	ORPHA:1297
HP:0031816	Abnormal oral morphology	2783	GNB2	OMIM:619503
HP:0031816	Abnormal oral morphology	7319	UBE2A	ORPHA:163956
HP:0031816	Abnormal oral morphology	196528	ARID2	OMIM:617808
HP:0031816	Abnormal oral morphology	9343	EFTUD2	OMIM:610536
HP:0031816	Abnormal oral morphology	6888	TALDO1	OMIM:606003
HP:0031816	Abnormal oral morphology	5813	PURA	ORPHA:314655
HP:0031816	Abnormal oral morphology	3192	HNRNPU	ORPHA:238769
HP:0031816	Abnormal oral morphology	6595	SMARCA2	OMIM:619293
HP:0031816	Abnormal oral morphology	2239	GPC4	OMIM:301026
HP:0031816	Abnormal oral morphology	2239	GPC4	ORPHA:2662
HP:0031816	Abnormal oral morphology	5898	RALA	OMIM:619311
HP:0031816	Abnormal oral morphology	7355	SLC35A2	OMIM:300896
HP:0031816	Abnormal oral morphology	1182	CLCN3	OMIM:619512
HP:0031816	Abnormal oral morphology	9320	TRIP12	OMIM:617752
HP:0031816	Abnormal oral morphology	51604	PIGT	ORPHA:369837
HP:0031816	Abnormal oral morphology	145173	B3GLCT	OMIM:261540
HP:0031816	Abnormal oral morphology	145173	B3GLCT	ORPHA:709
HP:0031816	Abnormal oral morphology	6659	SOX4	OMIM:618506
HP:0031816	Abnormal oral morphology	81857	MED25	ORPHA:464738
HP:0031816	Abnormal oral morphology	1788	DNMT3A	OMIM:615879
HP:0031816	Abnormal oral morphology	4897	NRCAM	OMIM:619833
HP:0031816	Abnormal oral morphology	93627	TBCK	OMIM:616900
HP:0031816	Abnormal oral morphology	79753	SNIP1	OMIM:614501
HP:0031816	Abnormal oral morphology	773	CACNA1A	ORPHA:2131
HP:0031816	Abnormal oral morphology	6507	SLC1A3	ORPHA:2131
HP:0031816	Abnormal oral morphology	477	ATP1A2	ORPHA:2131
HP:0031816	Abnormal oral morphology	478	ATP1A3	ORPHA:2131
HP:0031816	Abnormal oral morphology	64359	NXN	ORPHA:1507
HP:0031816	Abnormal oral morphology	4920	ROR2	ORPHA:1507
HP:0031816	Abnormal oral morphology	3190	HNRNPK	ORPHA:352665
HP:0031816	Abnormal oral morphology	3190	HNRNPK	ORPHA:453504
HP:0031816	Abnormal oral morphology	11198	SUPT16H	OMIM:619480
HP:0031816	Abnormal oral morphology	374654	KIF7	OMIM:200990
HP:0031816	Abnormal oral morphology	3020	H3-3A	OMIM:619720
HP:0031816	Abnormal oral morphology	388015	RTL1	ORPHA:254528
HP:0031816	Abnormal oral morphology	8788	DLK1	ORPHA:254528
HP:0031816	Abnormal oral morphology	55384	MEG3	ORPHA:254528
HP:0031816	Abnormal oral morphology	9442	MED27	OMIM:619286
HP:0031816	Abnormal oral morphology	57178	ZMIZ1	OMIM:618659
HP:0031816	Abnormal oral morphology	9772	TMEM94	OMIM:618316
HP:0031816	Abnormal oral morphology	55770	EXOC2	OMIM:619306
HP:0031816	Abnormal oral morphology	3720	JARID2	OMIM:620098
HP:0031816	Abnormal oral morphology	58499	ZNF462	OMIM:618619
HP:0031816	Abnormal oral morphology	4297	KMT2A	OMIM:605130
HP:0031816	Abnormal oral morphology	161742	SPRED1	OMIM:611431
HP:0031816	Abnormal oral morphology	58	ACTA1	ORPHA:171433
HP:0031816	Abnormal oral morphology	7170	TPM3	ORPHA:171433
HP:0031816	Abnormal oral morphology	137682	NDUFAF6	OMIM:618239
HP:0031816	Abnormal oral morphology	26153	KIF26A	OMIM:620156
HP:0031816	Abnormal oral morphology	57551	TAOK1	OMIM:619575
HP:0031816	Abnormal oral morphology	8888	MCM3AP	OMIM:618124
HP:0031816	Abnormal oral morphology	4141	MARS1	OMIM:619692
HP:0031816	Abnormal oral morphology	1272	CNTN1	OMIM:612540
HP:0031816	Abnormal oral morphology	84100	ARL6	OMIM:209900
HP:0031816	Abnormal oral morphology	79140	CCDC28B	OMIM:209900
HP:0031816	Abnormal oral morphology	582	BBS1	OMIM:209900
HP:0031816	Abnormal oral morphology	5351	PLOD1	ORPHA:1900
HP:0031816	Abnormal oral morphology	388662	SLC6A17	ORPHA:457212
HP:0031816	Abnormal oral morphology	8558	CDK10	OMIM:617694
HP:0031816	Abnormal oral morphology	368	ABCC6	OMIM:177850
HP:0031816	Abnormal oral morphology	56098	PCDHGC4	OMIM:619880
HP:0031816	Abnormal oral morphology	1315	COPB1	OMIM:619255
HP:0031816	Abnormal oral morphology	404672	GTF2H5	ORPHA:33364
HP:0031816	Abnormal oral morphology	136647	MPLKIP	ORPHA:33364
HP:0031816	Abnormal oral morphology	6897	TARS1	ORPHA:33364
HP:0031816	Abnormal oral morphology	2961	GTF2E2	ORPHA:33364
HP:0031816	Abnormal oral morphology	27445	PCLO	OMIM:608027
HP:0031816	Abnormal oral morphology	4629	MYH11	ORPHA:91387
HP:0031816	Abnormal oral morphology	4015	LOX	ORPHA:91387
HP:0031816	Abnormal oral morphology	59	ACTA2	ORPHA:91387
HP:0031816	Abnormal oral morphology	5592	PRKG1	ORPHA:91387
HP:0031816	Abnormal oral morphology	2301	FOXE3	ORPHA:91387
HP:0031816	Abnormal oral morphology	4144	MAT2A	ORPHA:91387
HP:0031816	Abnormal oral morphology	23493	HEY2	ORPHA:91387
HP:0031816	Abnormal oral morphology	8076	MFAP5	ORPHA:91387
HP:0031816	Abnormal oral morphology	4638	MYLK	ORPHA:91387
HP:0031816	Abnormal oral morphology	94	ACVRL1	OMIM:600376
HP:0031816	Abnormal oral morphology	2022	ENG	OMIM:187300
HP:0031816	Abnormal oral morphology	1020	CDK5	OMIM:616342
HP:0031816	Abnormal oral morphology	57531	HACE1	ORPHA:464282
HP:0031816	Abnormal oral morphology	64327	LMBR1	ORPHA:2378
HP:0031816	Abnormal oral morphology	2645	GCK	ORPHA:99885
HP:0031816	Abnormal oral morphology	3651	PDX1	ORPHA:99885
HP:0031816	Abnormal oral morphology	3630	INS	ORPHA:99885
HP:0031816	Abnormal oral morphology	2710	GK	OMIM:307030
HP:0031816	Abnormal oral morphology	84628	NTNG2	OMIM:618718
HP:0031816	Abnormal oral morphology	3851	KRT4	OMIM:193900
HP:0031816	Abnormal oral morphology	79651	RHBDF2	OMIM:148500
HP:0031816	Abnormal oral morphology	286887	KRT6C	OMIM:615735
HP:0031816	Abnormal oral morphology	6117	RPA1	OMIM:619767
HP:0031816	Abnormal oral morphology	64858	DCLRE1B	OMIM:620133
HP:0031816	Abnormal oral morphology	1277	COL1A1	ORPHA:287
HP:0031816	Abnormal oral morphology	1289	COL5A1	ORPHA:287
HP:0031816	Abnormal oral morphology	1290	COL5A2	ORPHA:287
HP:0031816	Abnormal oral morphology	2591	GALNT3	OMIM:211900
HP:0031816	Abnormal oral morphology	3166	HMX1	OMIM:612109
HP:0031816	Abnormal oral morphology	10015	PDCD6IP	OMIM:620047
HP:0031816	Abnormal oral morphology	2132	EXT2	OMIM:616682
HP:0031816	Abnormal oral morphology	401138	AMTN	OMIM:617607
HP:0031816	Abnormal oral morphology	123041	SLC24A4	OMIM:615887
HP:0031816	Abnormal oral morphology	9361	LONP1	OMIM:600373
HP:0031816	Abnormal oral morphology	81607	NECTIN4	OMIM:613573
HP:0031816	Abnormal oral morphology	2778	GNAS	ORPHA:94089
HP:0031816	Abnormal oral morphology	2778	GNAS	OMIM:612463
HP:0031816	Abnormal oral morphology	2778	GNAS	OMIM:612462
HP:0031816	Abnormal oral morphology	2778	GNAS	ORPHA:79443
HP:0031816	Abnormal oral morphology	2778	GNAS	ORPHA:79444
HP:0031816	Abnormal oral morphology	2778	GNAS	OMIM:103580
HP:0031816	Abnormal oral morphology	8675	STX16	ORPHA:94089
HP:0031816	Abnormal oral morphology	3655	ITGA6	ORPHA:79403
HP:0031816	Abnormal oral morphology	3909	LAMA3	ORPHA:79404
HP:0031816	Abnormal oral morphology	3909	LAMA3	OMIM:245660
HP:0031816	Abnormal oral morphology	3909	LAMA3	ORPHA:79402
HP:0031816	Abnormal oral morphology	3909	LAMA3	OMIM:226700
HP:0031816	Abnormal oral morphology	3918	LAMC2	ORPHA:79404
HP:0031816	Abnormal oral morphology	3918	LAMC2	ORPHA:79402
HP:0031816	Abnormal oral morphology	3918	LAMC2	OMIM:226700
HP:0031816	Abnormal oral morphology	57511	COG6	ORPHA:363523
HP:0031816	Abnormal oral morphology	57511	COG6	OMIM:614576
HP:0031816	Abnormal oral morphology	57511	COG6	OMIM:615328
HP:0031816	Abnormal oral morphology	152816	ODAPH	OMIM:614832
HP:0031816	Abnormal oral morphology	3117	HLA-DQA1	OMIM:212750
HP:0031816	Abnormal oral morphology	3119	HLA-DQB1	OMIM:212750
HP:0031816	Abnormal oral morphology	1594	CYP27B1	OMIM:264700
HP:0031816	Abnormal oral morphology	1594	CYP27B1	ORPHA:289157
HP:0031816	Abnormal oral morphology	6304	SATB1	OMIM:619229
HP:0031816	Abnormal oral morphology	57217	TTC7A	OMIM:243150
HP:0031816	Abnormal oral morphology	120227	CYP2R1	ORPHA:289157
HP:0031816	Abnormal oral morphology	80320	SP6	OMIM:620104
HP:0031816	Abnormal oral morphology	9076	CLDN1	OMIM:607626
HP:0031816	Abnormal oral morphology	326	AIRE	OMIM:240300
HP:0031816	Abnormal oral morphology	79977	GRHL2	OMIM:616029
HP:0031816	Abnormal oral morphology	1107	CHD3	OMIM:618205
HP:0031816	Abnormal oral morphology	224	ALDH3A2	OMIM:270200
HP:0031816	Abnormal oral morphology	5062	PAK2	OMIM:618458
HP:0031816	Abnormal oral morphology	10844	TUBGCP2	OMIM:618737
HP:0031816	Abnormal oral morphology	3149	HMGB3	OMIM:300915
HP:0031816	Abnormal oral morphology	1130	LYST	ORPHA:167
HP:0031816	Abnormal oral morphology	23019	CNOT1	ORPHA:556955
HP:0031816	Abnormal oral morphology	4087	SMAD2	OMIM:619657
HP:0031816	Abnormal oral morphology	5587	PRKD1	OMIM:617364
HP:0031816	Abnormal oral morphology	1476	CSTB	ORPHA:248
HP:0031816	Abnormal oral morphology	29887	SNX10	ORPHA:667
HP:0031816	Abnormal oral morphology	23102	TBC1D2B	ORPHA:397973
HP:0031816	Abnormal oral morphology	2067	ERCC1	ORPHA:90322
HP:0031816	Abnormal oral morphology	6424	SFRP4	OMIM:265900
HP:0031816	Abnormal oral morphology	7021	TFAP2B	ORPHA:46627
HP:0031816	Abnormal oral morphology	387	RHOA	OMIM:618727
HP:0031816	Abnormal oral morphology	51341	ZBTB7A	OMIM:619769
HP:0031816	Abnormal oral morphology	63901	FAM111A	ORPHA:93325
HP:0031816	Abnormal oral morphology	8600	TNFSF11	OMIM:259710
HP:0031816	Abnormal oral morphology	50485	SMARCAL1	ORPHA:1830
HP:0031816	Abnormal oral morphology	716	C1S	ORPHA:75392
HP:0031816	Abnormal oral morphology	715	C1R	ORPHA:75392
HP:0031816	Abnormal oral morphology	51715	RAB23	OMIM:201000
HP:0031816	Abnormal oral morphology	64094	SMOC2	OMIM:125400
HP:0031816	Abnormal oral morphology	64135	IFIH1	OMIM:182250
HP:0031816	Abnormal oral morphology	284654	RSPO1	OMIM:610644
HP:0031816	Abnormal oral morphology	4038	LRP4	OMIM:212780
HP:0031816	Abnormal oral morphology	4763	NF1	ORPHA:363700
HP:0031816	Abnormal oral morphology	55131	RBM28	ORPHA:157954
HP:0031816	Abnormal oral morphology	1593	CYP27A1	ORPHA:909
HP:0031816	Abnormal oral morphology	375056	MIA3	OMIM:619269
HP:0031816	Abnormal oral morphology	23328	SASH1	OMIM:618373
HP:0031816	Abnormal oral morphology	112802	KRT71	OMIM:615896
HP:0031816	Abnormal oral morphology	7700	ZNF141	OMIM:615226
HP:0031816	Abnormal oral morphology	3170	FOXA2	ORPHA:95494
HP:0031816	Abnormal oral morphology	51611	DPH5	OMIM:620070
HP:0031816	Abnormal oral morphology	2972	BRF1	ORPHA:444072
HP:0031816	Abnormal oral morphology	5307	PITX1	OMIM:119800
HP:0031816	Abnormal oral morphology	8111	GPR68	OMIM:617217
HP:0031816	Abnormal oral morphology	10117	ENAM	OMIM:204650
HP:0031816	Abnormal oral morphology	286077	FAM83H	OMIM:130900
HP:0031816	Abnormal oral morphology	9622	KLK4	OMIM:204700
HP:0031816	Abnormal oral morphology	9313	MMP20	OMIM:612529
HP:0031816	Abnormal oral morphology	3914	LAMB3	OMIM:104530
HP:0031816	Abnormal oral morphology	3694	ITGB6	OMIM:616221
HP:0031816	Abnormal oral morphology	1804	DPP6	ORPHA:2514
HP:0031816	Abnormal oral morphology	5116	PCNT	ORPHA:2637
HP:0031816	Abnormal oral morphology	5116	PCNT	ORPHA:808
HP:0031816	Abnormal oral morphology	90993	CREB3L1	OMIM:616229
HP:0031816	Abnormal oral morphology	1062	CENPE	ORPHA:808
HP:0031816	Abnormal oral morphology	79902	NUP85	ORPHA:808
HP:0031816	Abnormal oral morphology	84126	ATRIP	ORPHA:808
HP:0031816	Abnormal oral morphology	55835	CENPJ	ORPHA:808
HP:0031816	Abnormal oral morphology	10293	TRAIP	ORPHA:808
HP:0031816	Abnormal oral morphology	10733	PLK4	ORPHA:808
HP:0031816	Abnormal oral morphology	57647	DHX37	OMIM:618731
HP:0031816	Abnormal oral morphology	2690	GHR	ORPHA:633
HP:0031816	Abnormal oral morphology	9241	NOG	OMIM:186500
HP:0031816	Abnormal oral morphology	5371	PML	ORPHA:520
HP:0031816	Abnormal oral morphology	5914	RARA	ORPHA:520
HP:0031816	Abnormal oral morphology	359948	IRF2BP2	ORPHA:520
HP:0031816	Abnormal oral morphology	81608	FIP1L1	ORPHA:520
HP:0031816	Abnormal oral morphology	64859	NABP1	ORPHA:520
HP:0031816	Abnormal oral morphology	6777	STAT5B	ORPHA:520
HP:0031816	Abnormal oral morphology	4926	NUMA1	ORPHA:520
HP:0031816	Abnormal oral morphology	7704	ZBTB16	ORPHA:520
HP:0031816	Abnormal oral morphology	2642	GCGR	ORPHA:438274
HP:0031816	Abnormal oral morphology	3702	ITK	OMIM:613011
HP:0031816	Abnormal oral morphology	399	RHOH	OMIM:618307
HP:0031816	Abnormal oral morphology	10379	IRF9	OMIM:618648
HP:0031816	Abnormal oral morphology	3557	IL1RN	OMIM:612852
HP:0031816	Abnormal oral morphology	25974	MMACHC	ORPHA:79282
HP:0031816	Abnormal oral morphology	7535	ZAP70	ORPHA:911
HP:0031816	Abnormal oral morphology	8942	KYNU	ORPHA:79155
HP:0031816	Abnormal oral morphology	90417	KNSTRN	OMIM:613328
HP:0031816	Abnormal oral morphology	90417	KNSTRN	ORPHA:221139
HP:0031816	Abnormal oral morphology	5293	PIK3CD	OMIM:613328
HP:0031816	Abnormal oral morphology	5293	PIK3CD	ORPHA:221139
HP:0031816	Abnormal oral morphology	84196	USP48	ORPHA:96253
HP:0031816	Abnormal oral morphology	7157	TP53	ORPHA:96253
HP:0031816	Abnormal oral morphology	9101	USP8	ORPHA:96253
HP:0031816	Abnormal oral morphology	64072	CDH23	ORPHA:96253
HP:0031816	Abnormal oral morphology	2908	NR3C1	ORPHA:96253
HP:0031816	Abnormal oral morphology	4967	OGDH	ORPHA:31
HP:0031816	Abnormal oral morphology	10736	SIX2	ORPHA:488437
HP:0031816	Abnormal oral morphology	23426	GRIP1	ORPHA:2052
HP:0031816	Abnormal oral morphology	55112	DYNC2I1	ORPHA:93271
HP:0031816	Abnormal oral morphology	57560	IFT80	ORPHA:93271
HP:0031816	Abnormal oral morphology	89891	DYNC2I2	ORPHA:93271
HP:0031816	Abnormal oral morphology	265	AMELX	OMIM:301200
HP:0031816	Abnormal oral morphology	60401	EDA2R	ORPHA:181
HP:0031816	Abnormal oral morphology	6929	TCF3	OMIM:619824
HP:0031816	Abnormal oral morphology	4131	MAP1B	OMIM:618918
HP:0031816	Abnormal oral morphology	54892	NCAPG2	OMIM:618460
HP:0031816	Abnormal oral morphology	781	CACNA2D1	OMIM:620149
HP:0031816	Abnormal oral morphology	1436	CSF1R	OMIM:618476
HP:0031816	Abnormal oral morphology	23030	KDM4B	OMIM:619320
HP:0031816	Abnormal oral morphology	129685	TAF8	OMIM:619972
HP:0031816	Abnormal oral morphology	2590	GALNT2	OMIM:618885
HP:0031816	Abnormal oral morphology	5119	CHMP1A	OMIM:614961
HP:0031816	Abnormal oral morphology	9581	PREPL	OMIM:616224
HP:0031816	Abnormal oral morphology	26999	CYFIP2	OMIM:618008
HP:0031816	Abnormal oral morphology	10943	MSL3	OMIM:301032
HP:0031816	Abnormal oral morphology	1760	DMPK	ORPHA:589821
HP:0031816	Abnormal oral morphology	92949	ADAMTSL1	ORPHA:521445
HP:0031816	Abnormal oral morphology	10367	MICU1	OMIM:615673
HP:0031816	Abnormal oral morphology	4329	ALDH6A1	OMIM:614105
HP:0031816	Abnormal oral morphology	51124	IER3IP1	OMIM:614231
HP:0031816	Abnormal oral morphology	91875	TTC5	OMIM:619244
HP:0031816	Abnormal oral morphology	9373	PLAA	ORPHA:521426
HP:0031816	Abnormal oral morphology	9373	PLAA	OMIM:617527
HP:0031816	Abnormal oral morphology	23219	FBXO28	OMIM:619777
HP:0031816	Abnormal oral morphology	84081	NSRP1	OMIM:620001
HP:0031816	Abnormal oral morphology	8813	DPM1	ORPHA:79322
HP:0031816	Abnormal oral morphology	2801	GOLGA2	OMIM:620240
HP:0031816	Abnormal oral morphology	129285	PPP1R21	OMIM:619383
HP:0031816	Abnormal oral morphology	1917	EEF1A2	OMIM:616393
HP:0031816	Abnormal oral morphology	4633	MYL2	OMIM:619424
HP:0031816	Abnormal oral morphology	221927	BRAT1	OMIM:618056
HP:0031816	Abnormal oral morphology	9230	RAB11B	OMIM:617807
HP:0031816	Abnormal oral morphology	3187	HNRNPH1	OMIM:620083
HP:0031816	Abnormal oral morphology	153642	ARSK	OMIM:619698
HP:0031816	Abnormal oral morphology	55084	SOBP	OMIM:613671
HP:0031816	Abnormal oral morphology	9321	TRIP11	OMIM:200600
HP:0031816	Abnormal oral morphology	4001	LMNB1	OMIM:619179
HP:0031816	Abnormal oral morphology	9289	ADGRG1	ORPHA:98889
HP:0031816	Abnormal oral morphology	5297	PI4KA	ORPHA:98889
HP:0031816	Abnormal oral morphology	27286	SRPX2	ORPHA:98889
HP:0031816	Abnormal oral morphology	6872	TAF1	ORPHA:53351
HP:0031816	Abnormal oral morphology	2898	GRIK2	OMIM:619580
HP:0031816	Abnormal oral morphology	1457	CSNK2A1	OMIM:617062
HP:0031816	Abnormal oral morphology	1193	CLIC2	ORPHA:324410
HP:0031816	Abnormal oral morphology	23230	VPS13A	ORPHA:2388
HP:0031816	Abnormal oral morphology	1759	DNM1	OMIM:620352
HP:0031816	Abnormal oral morphology	1834	DSPP	OMIM:125420
HP:0031816	Abnormal oral morphology	222663	SCUBE3	OMIM:619184
HP:0031816	Abnormal oral morphology	545	ATR	OMIM:614564
HP:0031816	Abnormal oral morphology	8517	IKBKG	OMIM:300291
HP:0031816	Abnormal oral morphology	22827	PUF60	ORPHA:508488
HP:0031816	Abnormal oral morphology	1857	DVL3	ORPHA:3107
HP:0031816	Abnormal oral morphology	2535	FZD2	ORPHA:3107
HP:0031816	Abnormal oral morphology	9508	ADAMTS3	ORPHA:2136
HP:0031816	Abnormal oral morphology	79633	FAT4	ORPHA:2136
HP:0031816	Abnormal oral morphology	6938	TCF12	OMIM:619718
HP:0031816	Abnormal oral morphology	324	APC	OMIM:175100
HP:0031816	Abnormal oral morphology	324	APC	ORPHA:247806
HP:0031816	Abnormal oral morphology	324	APC	ORPHA:79665
HP:0031816	Abnormal oral morphology	23630	KCNE5	ORPHA:86818
HP:0031816	Abnormal oral morphology	2182	ACSL4	ORPHA:86818
HP:0031816	Abnormal oral morphology	2542	SLC37A4	OMIM:619525
HP:0031816	Abnormal oral morphology	2248	FGF3	ORPHA:90024
HP:0031816	Abnormal oral morphology	3861	KRT14	ORPHA:69087
HP:0031816	Abnormal oral morphology	865	CBFB	OMIM:620099
HP:0031816	Abnormal oral morphology	258	AMBN	OMIM:616270
HP:0031816	Abnormal oral morphology	7840	ALMS1	ORPHA:64
HP:0031816	Abnormal oral morphology	7399	USH2A	ORPHA:231178
HP:0031816	Abnormal oral morphology	79955	PDZD7	ORPHA:231178
HP:0031816	Abnormal oral morphology	4647	MYO7A	ORPHA:231178
HP:0031816	Abnormal oral morphology	25861	WHRN	ORPHA:231178
HP:0031816	Abnormal oral morphology	84059	ADGRV1	ORPHA:231178
HP:0031816	Abnormal oral morphology	26504	CNNM4	ORPHA:1873
HP:0031816	Abnormal oral morphology	54757	FAM20A	ORPHA:1031
HP:0031816	Abnormal oral morphology	284111	SLC13A5	ORPHA:1946
HP:0031816	Abnormal oral morphology	79641	ROGDI	ORPHA:1946
HP:0031816	Abnormal oral morphology	1308	COL17A1	ORPHA:251393
HP:0031816	Abnormal oral morphology	3691	ITGB4	ORPHA:251393
HP:0031816	Abnormal oral morphology	3762	KCNJ5	ORPHA:37553
HP:0031816	Abnormal oral morphology	3759	KCNJ2	ORPHA:37553
HP:0031816	Abnormal oral morphology	23028	KDM1A	ORPHA:477993
HP:0031816	Abnormal oral morphology	4487	MSX1	ORPHA:99798
HP:0031816	Abnormal oral morphology	128178	EDARADD	ORPHA:99798
HP:0031816	Abnormal oral morphology	5083	PAX9	ORPHA:99798
HP:0031816	Abnormal oral morphology	7341	SUMO1	ORPHA:99798
HP:0031816	Abnormal oral morphology	80326	WNT10A	ORPHA:99798
HP:0031816	Abnormal oral morphology	1896	EDA	ORPHA:99798
HP:0031816	Abnormal oral morphology	8313	AXIN2	ORPHA:99798
HP:0031816	Abnormal oral morphology	4040	LRP6	ORPHA:99798
HP:0031816	Abnormal oral morphology	7039	TGFA	ORPHA:99798
HP:0031816	Abnormal oral morphology	7480	WNT10B	ORPHA:99798
HP:0031816	Abnormal oral morphology	4000	LMNA	ORPHA:740
HP:0031816	Abnormal oral morphology	10269	ZMPSTE24	ORPHA:740
HP:0031816	Abnormal oral morphology	51305	KCNK9	ORPHA:166108
HP:0031816	Abnormal oral morphology	10664	CTCF	OMIM:615502
HP:0031816	Abnormal oral morphology	6768	ST14	OMIM:602400
HP:0031816	Abnormal oral morphology	84957	RELT	OMIM:618386
HP:0031816	Abnormal oral morphology	256764	WDR72	OMIM:613211
HP:0031816	Abnormal oral morphology	4750	NEK1	ORPHA:2751
HP:0031816	Abnormal oral morphology	54880	BCOR	ORPHA:2712
HP:0031816	Abnormal oral morphology	54880	BCOR	OMIM:300166
HP:0031816	Abnormal oral morphology	9968	MED12	ORPHA:93932
HP:0031816	Abnormal oral morphology	57539	WDR35	OMIM:614091
HP:0031816	Abnormal oral morphology	57539	WDR35	OMIM:613610
HP:0031816	Abnormal oral morphology	4810	NHS	OMIM:302350
HP:0031816	Abnormal oral morphology	2887	GRB10	ORPHA:96182
HP:0031816	Abnormal oral morphology	23111	SPART	ORPHA:101000
HP:0031816	Abnormal oral morphology	57589	RIC1	OMIM:618761
HP:0031816	Abnormal oral morphology	93650	ACP4	OMIM:617297
HP:0031816	Abnormal oral morphology	101929726	MYMX	OMIM:619941
HP:0031816	Abnormal oral morphology	2138	EYA1	OMIM:113650
HP:0031816	Abnormal oral morphology	6495	SIX1	OMIM:113650
HP:0031816	Abnormal oral morphology	2033	EP300	OMIM:613684
HP:0031816	Abnormal oral morphology	57479	PRR12	OMIM:619539
HP:0031816	Abnormal oral morphology	3097	HIVEP2	OMIM:616977
HP:0031816	Abnormal oral morphology	91801	ALKBH8	OMIM:618504
HP:0031816	Abnormal oral morphology	54517	PUS7	OMIM:618342
HP:0031816	Abnormal oral morphology	1053	CEBPE	OMIM:260570
HP:0031816	Abnormal oral morphology	6097	RORC	OMIM:616622
HP:0031816	Abnormal oral morphology	51311	TLR8	OMIM:301078
HP:0031816	Abnormal oral morphology	9948	WDR1	OMIM:150550
HP:0031816	Abnormal oral morphology	146206	CARMIL2	OMIM:618131
HP:0031816	Abnormal oral morphology	148022	TICAM1	OMIM:614850
HP:0031816	Abnormal oral morphology	91662	NLRP12	OMIM:611762
HP:0031816	Abnormal oral morphology	56244	BTNL2	ORPHA:797
HP:0031816	Abnormal oral morphology	3123	HLA-DRB1	ORPHA:797
HP:0031816	Abnormal oral morphology	488	ATP2A2	OMIM:124200
HP:0031816	Abnormal oral morphology	51057	WDPCP	OMIM:217085
HP:0031816	Abnormal oral morphology	51057	WDPCP	ORPHA:1338
HP:0031816	Abnormal oral morphology	4081	MAB21L1	OMIM:618479
HP:0031816	Abnormal oral morphology	55181	SMG8	OMIM:619268
HP:0031816	Abnormal oral morphology	6288	SAA1	ORPHA:85445
HP:0031816	Abnormal oral morphology	1802	DPH2	OMIM:620062
HP:0031816	Abnormal oral morphology	11113	CIT	OMIM:617090
HP:0031816	Abnormal oral morphology	11253	MAN1B1	ORPHA:397941
HP:0031816	Abnormal oral morphology	54084	TSPEAR	OMIM:618180
HP:0031816	Abnormal oral morphology	23363	OBSL1	OMIM:612921
HP:0031816	Abnormal oral morphology	2334	AFF2	ORPHA:100973
HP:0031816	Abnormal oral morphology	2334	AFF2	OMIM:309548
HP:0031816	Abnormal oral morphology	5934	RBL2	OMIM:619690
HP:0031816	Abnormal oral morphology	83999	KREMEN1	OMIM:617392
HP:0031816	Abnormal oral morphology	7965	AIMP2	OMIM:618006
HP:0031816	Abnormal oral morphology	83987	CCDC8	OMIM:614205
HP:0031816	Abnormal oral morphology	22872	SEC31A	OMIM:618651
HP:0031816	Abnormal oral morphology	54681	P4HTM	OMIM:618493
HP:0031816	Abnormal oral morphology	4613	MYCN	OMIM:164280
HP:0031816	Abnormal oral morphology	4338	MOCS2	OMIM:252160
HP:0031816	Abnormal oral morphology	79644	SRD5A3	OMIM:612713
HP:0031816	Abnormal oral morphology	4337	MOCS1	OMIM:252150
HP:0031816	Abnormal oral morphology	85440	DOCK7	ORPHA:411986
HP:0031816	Abnormal oral morphology	85440	DOCK7	OMIM:615859
HP:0031816	Abnormal oral morphology	10283	CWC27	OMIM:250410
HP:0031816	Abnormal oral morphology	7750	ZMYM2	OMIM:619522
HP:0031816	Abnormal oral morphology	2890	GRIA1	OMIM:619927
HP:0031816	Abnormal oral morphology	118924	FRA10AC1	OMIM:620113
HP:0031816	Abnormal oral morphology	2273	FHL1	OMIM:300280
HP:0031816	Abnormal oral morphology	5557	PRIM1	OMIM:620005
HP:0031816	Abnormal oral morphology	79791	FBXO31	OMIM:615979
HP:0031816	Abnormal oral morphology	55367	PIDD1	OMIM:619827
HP:0031816	Abnormal oral morphology	84148	KAT8	OMIM:618974
HP:0031816	Abnormal oral morphology	51013	EXOSC1	OMIM:619304
HP:0031816	Abnormal oral morphology	51099	ABHD5	ORPHA:98907
HP:0031816	Abnormal oral morphology	204219	CERS3	OMIM:615023
HP:0031816	Abnormal oral morphology	2483	FRG1	OMIM:158900
HP:0031816	Abnormal oral morphology	2934	GSN	ORPHA:85448
HP:0031816	Abnormal oral morphology	339855	KY	OMIM:617114
HP:0031816	Abnormal oral morphology	339855	KY	ORPHA:496689
HP:0031816	Abnormal oral morphology	3508	IGHMBP2	OMIM:616155
HP:0031816	Abnormal oral morphology	10528	NOP56	OMIM:614153
HP:0031816	Abnormal oral morphology	10528	NOP56	ORPHA:276198
HP:0031816	Abnormal oral morphology	22880	MORC2	ORPHA:466768
HP:0031816	Abnormal oral morphology	10133	OPTN	OMIM:613435
HP:0031816	Abnormal oral morphology	51010	EXOSC3	OMIM:614678
HP:0031816	Abnormal oral morphology	4747	NEFL	ORPHA:101085
HP:0031816	Abnormal oral morphology	113278	SLC52A3	OMIM:211530
HP:0031816	Abnormal oral morphology	1528	CYB5A	ORPHA:621
HP:0031816	Abnormal oral morphology	1727	CYB5R3	ORPHA:621
HP:0031816	Abnormal oral morphology	8792	TNFRSF11A	OMIM:174810
HP:0031816	Abnormal oral morphology	26525	IL36RN	OMIM:614204
HP:0031816	Abnormal oral morphology	8029	CUBN	ORPHA:35858
HP:0031816	Abnormal oral morphology	81693	AMN	ORPHA:35858
HP:0031816	Abnormal oral morphology	3872	KRT17	OMIM:167210
HP:0031816	Abnormal oral morphology	3872	KRT17	ORPHA:2309
HP:0031816	Abnormal oral morphology	3868	KRT16	ORPHA:2309
HP:0031816	Abnormal oral morphology	3853	KRT6A	ORPHA:2309
HP:0031816	Abnormal oral morphology	3854	KRT6B	ORPHA:2309
HP:0031816	Abnormal oral morphology	6720	SREBF1	OMIM:619016
HP:0031816	Abnormal oral morphology	4194	MDM4	OMIM:618849
HP:0031816	Abnormal oral morphology	7390	UROS	OMIM:263700
HP:0031816	Abnormal oral morphology	7390	UROS	ORPHA:79277
HP:0031816	Abnormal oral morphology	7389	UROD	ORPHA:95159
HP:0031816	Abnormal oral morphology	4914	NTRK1	ORPHA:642
HP:0031816	Abnormal oral morphology	5251	PHEX	ORPHA:89936
HP:0031816	Abnormal oral morphology	8074	FGF23	ORPHA:89937
HP:0031816	Abnormal oral morphology	1758	DMP1	ORPHA:289176
HP:0031816	Abnormal oral morphology	5167	ENPP1	ORPHA:289176
HP:0031816	Abnormal oral morphology	1991	ELANE	ORPHA:2686
HP:0031816	Abnormal oral morphology	1747	DLX3	ORPHA:3352
HP:0031816	Abnormal oral morphology	284	ANGPT1	OMIM:619361
HP:0031816	Abnormal oral morphology	26509	MYOF	OMIM:619366
HP:0031816	Abnormal oral morphology	64711	HS3ST6	OMIM:619367
HP:0031816	Abnormal oral morphology	3827	KNG1	OMIM:619363
HP:0031816	Abnormal oral morphology	11146	GLMN	ORPHA:83454
HP:0031816	Abnormal oral morphology	9630	GNA14	ORPHA:1063
HP:0031816	Abnormal oral morphology	59067	IL21	OMIM:615767
HP:0031816	Abnormal oral morphology	54440	SASH3	OMIM:301082
HP:0031816	Abnormal oral morphology	3569	IL6	OMIM:266600
HP:0031816	Abnormal oral morphology	150468	CKAP2L	OMIM:272440
HP:0031816	Abnormal oral morphology	6868	ADAM17	ORPHA:294023
HP:0031816	Abnormal oral morphology	1956	EGFR	ORPHA:294023
HP:0031816	Abnormal oral morphology	7512	XPNPEP2	ORPHA:100057
HP:0031816	Abnormal oral morphology	710	SERPING1	ORPHA:100050
HP:0031816	Abnormal oral morphology	55969	RAB5IF	OMIM:616994
HP:0031816	Abnormal oral morphology	356	FASLG	ORPHA:3261
HP:0031816	Abnormal oral morphology	5580	PRKCD	ORPHA:3261
HP:0031816	Abnormal oral morphology	843	CASP10	ORPHA:3261
HP:0031816	Abnormal oral morphology	10125	RASGRP1	ORPHA:3261
HP:0031816	Abnormal oral morphology	8314	BAP1	ORPHA:2495
HP:0031816	Abnormal oral morphology	4771	NF2	ORPHA:2495
HP:0031816	Abnormal oral morphology	5155	PDGFB	ORPHA:2495
HP:0031816	Abnormal oral morphology	84231	TRAF7	ORPHA:2495
HP:0031816	Abnormal oral morphology	4609	MYC	ORPHA:543
HP:0031816	Abnormal oral morphology	7486	WRN	ORPHA:902
HP:0031816	Abnormal oral morphology	6794	STK11	ORPHA:2869
HP:0031816	Abnormal oral morphology	4292	MLH1	ORPHA:587
HP:0031816	Abnormal oral morphology	2956	MSH6	ORPHA:587
HP:0031816	Abnormal oral morphology	4436	MSH2	ORPHA:587
HP:0031816	Abnormal oral morphology	4041	LRP5	OMIM:607634
HP:0031816	Abnormal oral morphology	4041	LRP5	ORPHA:2790
HP:0031816	Abnormal oral morphology	4041	LRP5	OMIM:144750
HP:0031816	Abnormal oral morphology	215	ABCD1	ORPHA:139399
HP:0031816	Abnormal oral morphology	641	BLM	ORPHA:125
HP:0031816	Abnormal oral morphology	55630	SLC39A4	ORPHA:37
HP:0031816	Abnormal oral morphology	51360	MBTPS2	ORPHA:2273
HP:0031816	Abnormal oral morphology	5317	PKP1	ORPHA:158668
HP:0031816	Abnormal oral morphology	831	CAST	OMIM:616295
HP:0031816	Abnormal oral morphology	55612	FERMT1	ORPHA:2908
HP:0031816	Abnormal oral morphology	10892	MALT1	OMIM:615468
HP:0031816	Abnormal oral morphology	84818	IL17RC	ORPHA:1334
HP:0031816	Abnormal oral morphology	64581	CLEC7A	ORPHA:1334
HP:0031816	Abnormal oral morphology	23765	IL17RA	ORPHA:1334
HP:0031816	Abnormal oral morphology	10758	TRAF3IP2	ORPHA:1334
HP:0031816	Abnormal oral morphology	10758	TRAF3IP2	OMIM:615527
HP:0031816	Abnormal oral morphology	112744	IL17F	ORPHA:1334
HP:0031816	Abnormal oral morphology	64065	PERP	OMIM:619208
HP:0031816	Abnormal oral morphology	113235	SLC46A1	ORPHA:90045
HP:0031816	Abnormal oral morphology	9509	ADAMTS2	OMIM:225410
HP:0031816	Abnormal oral morphology	1830	DSG3	OMIM:619226
HP:0031816	Abnormal oral morphology	100506658	OCLN	OMIM:251290
HP:0031816	Abnormal oral morphology	1500	CTNND1	OMIM:617681
HP:0031816	Abnormal oral morphology	4524	MTHFR	ORPHA:563609
HP:0031816	Abnormal oral morphology	57216	VANGL2	ORPHA:563609
HP:0031817	Decreased circulating parathyroid hormone level	846	CASR	OMIM:601198
HP:0031817	Decreased circulating parathyroid hormone level	5741	PTH	OMIM:146200
HP:0031817	Decreased circulating parathyroid hormone level	1591	CYP24A1	OMIM:143880
HP:0031817	Decreased circulating parathyroid hormone level	6899	TBX1	OMIM:188400
HP:0031817	Decreased circulating parathyroid hormone level	9247	GCM2	OMIM:618883
HP:0031817	Decreased circulating parathyroid hormone level	142680	SLC34A3	ORPHA:157215
HP:0031817	Decreased circulating parathyroid hormone level	142680	SLC34A3	OMIM:241530
HP:0031817	Decreased circulating parathyroid hormone level	6569	SLC34A1	ORPHA:157215
HP:0031817	Decreased circulating parathyroid hormone level	326	AIRE	OMIM:240300
HP:0031817	Decreased circulating parathyroid hormone level	6905	TBCE	OMIM:241410
HP:0031818	Abnormal waist to hip ratio	6934	TCF7L2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	2645	GCK	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3172	HNF4A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3569	IL6	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3990	LIPC	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6927	HNF1A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	9479	MAPK8IP1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	56729	RETN	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	4544	MTNR1B	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5506	PPP1R3A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	7466	WFS1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	208	AKT2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3651	PDX1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6833	ABCC8	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	10644	IGF2BP2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5167	ENPP1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5167	ENPP1	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	5770	PTPN1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	8660	IRS2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3159	HMGA1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5078	PAX4	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6928	HNF1B	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3667	IRS1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5468	PPARG	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5468	PPARG	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	4760	NEUROD1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	169026	SLC30A8	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	2820	GPD2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3767	KCNJ11	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6514	SLC2A2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	154	ADRB2	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	155	ADRB3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	7352	UCP3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	8431	NR0B2	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	9607	CARTPT	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	5443	POMC	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	51738	GHRL	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	9672	SDC3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	181	AGRP	OMIM:601665
HP:0031819	Increased waist to hip ratio	6934	TCF7L2	OMIM:125853
HP:0031819	Increased waist to hip ratio	2645	GCK	OMIM:125853
HP:0031819	Increased waist to hip ratio	3172	HNF4A	OMIM:125853
HP:0031819	Increased waist to hip ratio	3569	IL6	OMIM:125853
HP:0031819	Increased waist to hip ratio	3990	LIPC	OMIM:125853
HP:0031819	Increased waist to hip ratio	6927	HNF1A	OMIM:125853
HP:0031819	Increased waist to hip ratio	9479	MAPK8IP1	OMIM:125853
HP:0031819	Increased waist to hip ratio	56729	RETN	OMIM:125853
HP:0031819	Increased waist to hip ratio	4544	MTNR1B	OMIM:125853
HP:0031819	Increased waist to hip ratio	5506	PPP1R3A	OMIM:125853
HP:0031819	Increased waist to hip ratio	7466	WFS1	OMIM:125853
HP:0031819	Increased waist to hip ratio	208	AKT2	OMIM:125853
HP:0031819	Increased waist to hip ratio	3651	PDX1	OMIM:125853
HP:0031819	Increased waist to hip ratio	6833	ABCC8	OMIM:125853
HP:0031819	Increased waist to hip ratio	10644	IGF2BP2	OMIM:125853
HP:0031819	Increased waist to hip ratio	5167	ENPP1	OMIM:125853
HP:0031819	Increased waist to hip ratio	5167	ENPP1	OMIM:601665
HP:0031819	Increased waist to hip ratio	5770	PTPN1	OMIM:125853
HP:0031819	Increased waist to hip ratio	8660	IRS2	OMIM:125853
HP:0031819	Increased waist to hip ratio	3159	HMGA1	OMIM:125853
HP:0031819	Increased waist to hip ratio	5078	PAX4	OMIM:125853
HP:0031819	Increased waist to hip ratio	6928	HNF1B	OMIM:125853
HP:0031819	Increased waist to hip ratio	3667	IRS1	OMIM:125853
HP:0031819	Increased waist to hip ratio	5468	PPARG	OMIM:125853
HP:0031819	Increased waist to hip ratio	5468	PPARG	OMIM:601665
HP:0031819	Increased waist to hip ratio	4760	NEUROD1	OMIM:125853
HP:0031819	Increased waist to hip ratio	169026	SLC30A8	OMIM:125853
HP:0031819	Increased waist to hip ratio	2820	GPD2	OMIM:125853
HP:0031819	Increased waist to hip ratio	3767	KCNJ11	OMIM:125853
HP:0031819	Increased waist to hip ratio	6514	SLC2A2	OMIM:125853
HP:0031819	Increased waist to hip ratio	154	ADRB2	OMIM:601665
HP:0031819	Increased waist to hip ratio	155	ADRB3	OMIM:601665
HP:0031819	Increased waist to hip ratio	7352	UCP3	OMIM:601665
HP:0031819	Increased waist to hip ratio	8431	NR0B2	OMIM:601665
HP:0031819	Increased waist to hip ratio	9607	CARTPT	OMIM:601665
HP:0031819	Increased waist to hip ratio	5443	POMC	OMIM:601665
HP:0031819	Increased waist to hip ratio	51738	GHRL	OMIM:601665
HP:0031819	Increased waist to hip ratio	9672	SDC3	OMIM:601665
HP:0031819	Increased waist to hip ratio	181	AGRP	OMIM:601665
HP:0031811	Bilirubinuria	28234	SLCO1B3	ORPHA:3111
HP:0031811	Bilirubinuria	10599	SLCO1B1	ORPHA:3111
HP:0034350	Valvular pulmonary stenosis	5337	PLD1	OMIM:212093
HP:0034350	Valvular pulmonary stenosis	92002	CCNQ	OMIM:300707
HP:0034351	Neuromyotonia	3094	HINT1	OMIM:137200
HP:0034352	Bile duct polyp	6794	STK11	OMIM:175200
HP:0034353	Appendicular spasticity	3912	LAMB1	OMIM:615191
HP:0034353	Appendicular spasticity	8504	PEX3	OMIM:617370
HP:0034353	Appendicular spasticity	4125	MAN2B1	ORPHA:309282
HP:0034353	Appendicular spasticity	9131	AIFM1	ORPHA:83629
HP:0034353	Appendicular spasticity	55182	RNF220	OMIM:619688
HP:0034353	Appendicular spasticity	518	ATP5MC3	OMIM:619681
HP:0034353	Appendicular spasticity	5077	PAX3	ORPHA:896
HP:0034353	Appendicular spasticity	5077	PAX3	OMIM:148820
HP:0034353	Appendicular spasticity	25778	DSTYK	OMIM:270750
HP:0034353	Appendicular spasticity	25778	DSTYK	ORPHA:101003
HP:0034353	Appendicular spasticity	51324	SPG21	OMIM:248900
HP:0034353	Appendicular spasticity	10059	DNM1L	ORPHA:98673
HP:0034353	Appendicular spasticity	4976	OPA1	ORPHA:98673
HP:0034353	Appendicular spasticity	4976	OPA1	ORPHA:1215
HP:0034353	Appendicular spasticity	64834	ELOVL1	OMIM:618527
HP:0034353	Appendicular spasticity	7920	ABHD16A	OMIM:619735
HP:0034353	Appendicular spasticity	114034	TOE1	OMIM:614969
HP:0034353	Appendicular spasticity	546	ATRX	ORPHA:847
HP:0034353	Appendicular spasticity	1130	LYST	ORPHA:167
HP:0034353	Appendicular spasticity	26154	ABCA12	OMIM:601277
HP:0034353	Appendicular spasticity	2632	GBE1	OMIM:263570
HP:0034353	Appendicular spasticity	113612	CYP2U1	OMIM:615030
HP:0034353	Appendicular spasticity	113612	CYP2U1	ORPHA:320411
HP:0034353	Appendicular spasticity	9895	TECPR2	OMIM:615031
HP:0034353	Appendicular spasticity	23259	DDHD2	OMIM:615033
HP:0034353	Appendicular spasticity	23259	DDHD2	ORPHA:320380
HP:0034353	Appendicular spasticity	23064	SETX	ORPHA:357043
HP:0034353	Appendicular spasticity	953	ENTPD1	OMIM:615683
HP:0034353	Appendicular spasticity	83636	C19orf12	OMIM:615043
HP:0034353	Appendicular spasticity	23204	ARL6IP1	OMIM:615685
HP:0034353	Appendicular spasticity	271	AMPD2	OMIM:615686
HP:0034353	Appendicular spasticity	2629	GBA1	ORPHA:2072
HP:0034353	Appendicular spasticity	4099	MAG	ORPHA:459056
HP:0034353	Appendicular spasticity	8139	GAN	OMIM:256850
HP:0034353	Appendicular spasticity	84842	HPDL	OMIM:619026
HP:0034353	Appendicular spasticity	84842	HPDL	OMIM:619027
HP:0034353	Appendicular spasticity	84706	GPT2	ORPHA:477673
HP:0034353	Appendicular spasticity	55656	INTS8	OMIM:618572
HP:0034353	Appendicular spasticity	51308	REEP2	OMIM:615625
HP:0034353	Appendicular spasticity	137492	VPS37A	OMIM:614898
HP:0034353	Appendicular spasticity	1499	CTNNB1	OMIM:615075
HP:0034353	Appendicular spasticity	8367	H4C5	OMIM:619950
HP:0034353	Appendicular spasticity	8260	NAA10	OMIM:309800
HP:0034353	Appendicular spasticity	54880	BCOR	OMIM:309800
HP:0034353	Appendicular spasticity	8905	AP1S2	ORPHA:85335
HP:0034353	Appendicular spasticity	6711	SPTBN1	OMIM:619475
HP:0034353	Appendicular spasticity	25782	RAB3GAP2	OMIM:614225
HP:0034353	Appendicular spasticity	25782	RAB3GAP2	OMIM:212720
HP:0034353	Appendicular spasticity	4860	PNP	OMIM:613179
HP:0034353	Appendicular spasticity	54820	NDE1	ORPHA:2177
HP:0034353	Appendicular spasticity	8050	PDHX	ORPHA:255182
HP:0034353	Appendicular spasticity	51218	GLRX5	ORPHA:401866
HP:0034353	Appendicular spasticity	51218	GLRX5	OMIM:616859
HP:0034353	Appendicular spasticity	2581	GALC	ORPHA:206443
HP:0034353	Appendicular spasticity	2581	GALC	ORPHA:206436
HP:0034353	Appendicular spasticity	2521	FUS	ORPHA:300605
HP:0034353	Appendicular spasticity	80208	SPG11	ORPHA:300605
HP:0034353	Appendicular spasticity	10280	SIGMAR1	ORPHA:300605
HP:0034353	Appendicular spasticity	10558	SPTLC1	ORPHA:300605
HP:0034353	Appendicular spasticity	57679	ALS2	ORPHA:300605
HP:0034353	Appendicular spasticity	57679	ALS2	OMIM:205100
HP:0034353	Appendicular spasticity	100147744	RNU7-1	OMIM:619487
HP:0034353	Appendicular spasticity	6872	TAF1	OMIM:300966
HP:0034353	Appendicular spasticity	6872	TAF1	ORPHA:480907
HP:0034353	Appendicular spasticity	1615	DARS1	OMIM:615281
HP:0034353	Appendicular spasticity	2316	FLNA	OMIM:300048
HP:0034353	Appendicular spasticity	10157	AASS	ORPHA:2203
HP:0034353	Appendicular spasticity	10157	AASS	ORPHA:3124
HP:0034353	Appendicular spasticity	3295	HSD17B4	OMIM:233400
HP:0034353	Appendicular spasticity	224	ALDH3A2	ORPHA:816
HP:0034353	Appendicular spasticity	10084	PQBP1	ORPHA:93947
HP:0034353	Appendicular spasticity	10166	SLC25A15	OMIM:238970
HP:0034353	Appendicular spasticity	16	AARS1	OMIM:619691
HP:0034353	Appendicular spasticity	55250	ELP2	OMIM:617270
HP:0034353	Appendicular spasticity	54	ACP5	OMIM:607944
HP:0034353	Appendicular spasticity	22930	RAB3GAP1	OMIM:600118
HP:0034353	Appendicular spasticity	22930	RAB3GAP1	OMIM:619420
HP:0034353	Appendicular spasticity	4915	NTRK2	OMIM:617830
HP:0034353	Appendicular spasticity	10381	TUBB3	ORPHA:300570
HP:0034353	Appendicular spasticity	5660	PSAP	ORPHA:206436
HP:0034353	Appendicular spasticity	2639	GCDH	OMIM:231670
HP:0034353	Appendicular spasticity	4697	NDUFA4	OMIM:619065
HP:0034353	Appendicular spasticity	120	ADD3	OMIM:617008
HP:0034353	Appendicular spasticity	128989	TANGO2	OMIM:616878
HP:0034353	Appendicular spasticity	4990	SIX6	OMIM:206900
HP:0034353	Appendicular spasticity	6657	SOX2	OMIM:206900
HP:0034353	Appendicular spasticity	10075	HUWE1	OMIM:309590
HP:0034353	Appendicular spasticity	3028	HSD17B10	ORPHA:391428
HP:0034353	Appendicular spasticity	84065	TMEM222	OMIM:619470
HP:0034353	Appendicular spasticity	5354	PLP1	ORPHA:280224
HP:0034353	Appendicular spasticity	5354	PLP1	ORPHA:280219
HP:0034353	Appendicular spasticity	3763	KCNJ6	ORPHA:435628
HP:0034353	Appendicular spasticity	3763	KCNJ6	OMIM:614098
HP:0034353	Appendicular spasticity	11340	EXOSC8	OMIM:616081
HP:0034353	Appendicular spasticity	8243	SMC1A	OMIM:301044
HP:0034353	Appendicular spasticity	10617	STAMBP	OMIM:614261
HP:0034353	Appendicular spasticity	51399	TRAPPC4	OMIM:618741
HP:0034353	Appendicular spasticity	84879	MFSD2A	OMIM:616486
HP:0034353	Appendicular spasticity	6659	SOX4	OMIM:618506
HP:0034353	Appendicular spasticity	7355	SLC35A2	ORPHA:356961
HP:0034353	Appendicular spasticity	84334	COA8	ORPHA:436271
HP:0034353	Appendicular spasticity	84334	COA8	OMIM:619061
HP:0034353	Appendicular spasticity	90624	LYRM7	OMIM:615838
HP:0034353	Appendicular spasticity	6571	SLC18A2	ORPHA:352649
HP:0034353	Appendicular spasticity	11160	ERLIN2	ORPHA:247604
HP:0034353	Appendicular spasticity	5631	PRPS1	ORPHA:423479
HP:0034353	Appendicular spasticity	60558	GUF1	OMIM:617065
HP:0034353	Appendicular spasticity	6647	SOD1	OMIM:618598
HP:0034353	Appendicular spasticity	51601	LIPT1	OMIM:616299
HP:0034353	Appendicular spasticity	387787	LIPT2	OMIM:617668
HP:0034353	Appendicular spasticity	473	RERE	OMIM:616975
HP:0034353	Appendicular spasticity	4010	LMX1B	ORPHA:495818
HP:0034353	Appendicular spasticity	79152	FA2H	ORPHA:171629
HP:0034353	Appendicular spasticity	79152	FA2H	OMIM:612319
HP:0034353	Appendicular spasticity	498	ATP5F1A	OMIM:620358
HP:0034353	Appendicular spasticity	5048	PAFAH1B1	OMIM:607432
HP:0034353	Appendicular spasticity	79944	L2HGDH	OMIM:236792
HP:0034353	Appendicular spasticity	79944	L2HGDH	ORPHA:79314
HP:0034353	Appendicular spasticity	2192	FBLN1	ORPHA:404451
HP:0034353	Appendicular spasticity	284403	WDR62	OMIM:604317
HP:0034353	Appendicular spasticity	51204	TACO1	OMIM:619052
HP:0034353	Appendicular spasticity	2937	GSS	OMIM:266130
HP:0034353	Appendicular spasticity	65055	REEP1	ORPHA:101011
HP:0034353	Appendicular spasticity	348	APOE	OMIM:607822
HP:0034353	Appendicular spasticity	5663	PSEN1	OMIM:607822
HP:0034353	Appendicular spasticity	4001	LMNB1	OMIM:619179
HP:0034353	Appendicular spasticity	4508	MT-ATP6	ORPHA:225154
HP:0034353	Appendicular spasticity	23636	NUP62	ORPHA:225154
HP:0034353	Appendicular spasticity	7143	TNR	OMIM:619653
HP:0034353	Appendicular spasticity	3899	AFF3	OMIM:619297
HP:0034353	Appendicular spasticity	215	ABCD1	ORPHA:139396
HP:0034353	Appendicular spasticity	6389	SDHA	ORPHA:3208
HP:0034353	Appendicular spasticity	6390	SDHB	ORPHA:3208
HP:0034353	Appendicular spasticity	6392	SDHD	ORPHA:3208
HP:0034353	Appendicular spasticity	29960	MRM2	OMIM:618567
HP:0034353	Appendicular spasticity	10195	ALG3	ORPHA:79321
HP:0034353	Appendicular spasticity	10195	ALG3	OMIM:601110
HP:0034353	Appendicular spasticity	124454	EARS2	OMIM:614924
HP:0034353	Appendicular spasticity	29968	PSAT1	ORPHA:284417
HP:0034353	Appendicular spasticity	27247	NFU1	OMIM:605711
HP:0034353	Appendicular spasticity	1968	EIF2S3	OMIM:300148
HP:0034353	Appendicular spasticity	58497	PRUNE1	OMIM:617481
HP:0034353	Appendicular spasticity	58497	PRUNE1	ORPHA:544469
HP:0034353	Appendicular spasticity	84188	FAR1	ORPHA:438178
HP:0034353	Appendicular spasticity	84188	FAR1	OMIM:616154
HP:0034353	Appendicular spasticity	221692	PHACTR1	OMIM:618298
HP:0034353	Appendicular spasticity	523	ATP6V1A	OMIM:618012
HP:0034353	Appendicular spasticity	3785	KCNQ2	OMIM:613720
HP:0034353	Appendicular spasticity	54808	DYM	ORPHA:239
HP:0034353	Appendicular spasticity	2760	GM2A	OMIM:272750
HP:0034353	Appendicular spasticity	51062	ATL1	ORPHA:100984
HP:0034353	Appendicular spasticity	51062	ATL1	OMIM:182600
HP:0034353	Appendicular spasticity	23111	SPART	OMIM:275900
HP:0034353	Appendicular spasticity	4524	MTHFR	ORPHA:395
HP:0034353	Appendicular spasticity	9897	WASHC5	ORPHA:100989
HP:0034353	Appendicular spasticity	9897	WASHC5	OMIM:603563
HP:0034353	Appendicular spasticity	340533	NEXMIF	OMIM:300912
HP:0034353	Appendicular spasticity	1183	CLCN4	OMIM:300114
HP:0034353	Appendicular spasticity	1183	CLCN4	ORPHA:485350
HP:0034353	Appendicular spasticity	6683	SPAST	ORPHA:100985
HP:0034353	Appendicular spasticity	6683	SPAST	OMIM:182601
HP:0034353	Appendicular spasticity	57165	GJC2	ORPHA:320401
HP:0034353	Appendicular spasticity	57165	GJC2	OMIM:613206
HP:0034353	Appendicular spasticity	9420	CYP7B1	ORPHA:100986
HP:0034353	Appendicular spasticity	9420	CYP7B1	OMIM:270800
HP:0034353	Appendicular spasticity	23345	SYNE1	ORPHA:88644
HP:0034353	Appendicular spasticity	123606	NIPA1	ORPHA:100988
HP:0034353	Appendicular spasticity	123606	NIPA1	OMIM:600363
HP:0034353	Appendicular spasticity	80821	DDHD1	OMIM:609340
HP:0034353	Appendicular spasticity	80821	DDHD1	ORPHA:101008
HP:0034353	Appendicular spasticity	57704	GBA2	ORPHA:352641
HP:0034353	Appendicular spasticity	57704	GBA2	ORPHA:320391
HP:0034353	Appendicular spasticity	57704	GBA2	OMIM:614409
HP:0034353	Appendicular spasticity	1355	COX15	OMIM:615119
HP:0034353	Appendicular spasticity	23314	SATB2	ORPHA:251028
HP:0034353	Appendicular spasticity	775	CACNA1C	OMIM:620029
HP:0034353	Appendicular spasticity	51412	ACTL6B	OMIM:618468
HP:0034353	Appendicular spasticity	4758	NEU1	ORPHA:93399
HP:0034353	Appendicular spasticity	1161	ERCC8	ORPHA:90321
HP:0034353	Appendicular spasticity	1161	ERCC8	ORPHA:90322
HP:0034353	Appendicular spasticity	2072	ERCC4	ORPHA:90321
HP:0034353	Appendicular spasticity	2074	ERCC6	ORPHA:90321
HP:0034353	Appendicular spasticity	2074	ERCC6	ORPHA:90322
HP:0034353	Appendicular spasticity	2067	ERCC1	ORPHA:90322
HP:0034353	Appendicular spasticity	81790	RNF170	OMIM:619686
HP:0034353	Appendicular spasticity	10908	PNPLA6	ORPHA:139480
HP:0034353	Appendicular spasticity	5917	RARS1	ORPHA:438114
HP:0034353	Appendicular spasticity	5917	RARS1	OMIM:616140
HP:0034353	Appendicular spasticity	57156	TMEM63C	OMIM:619966
HP:0034353	Appendicular spasticity	27102	EIF2AK1	OMIM:618878
HP:0034353	Appendicular spasticity	547	KIF1A	OMIM:610357
HP:0034353	Appendicular spasticity	547	KIF1A	ORPHA:101010
HP:0034353	Appendicular spasticity	3897	L1CAM	OMIM:303350
HP:0034353	Appendicular spasticity	84340	GFM2	ORPHA:565624
HP:0034353	Appendicular spasticity	7345	UCHL1	OMIM:615491
HP:0034353	Appendicular spasticity	7345	UCHL1	OMIM:620221
HP:0034353	Appendicular spasticity	816	CAMK2B	OMIM:617799
HP:0034353	Appendicular spasticity	51741	WWOX	OMIM:614322
HP:0034353	Appendicular spasticity	10342	TFG	OMIM:615658
HP:0034353	Appendicular spasticity	118813	ZFYVE27	OMIM:610244
HP:0034353	Appendicular spasticity	51079	NDUFA13	OMIM:618249
HP:0034353	Appendicular spasticity	85465	SELENOI	OMIM:618768
HP:0034353	Appendicular spasticity	4361	MRE11	OMIM:604391
HP:0034353	Appendicular spasticity	823	CAPN1	OMIM:616907
HP:0034353	Appendicular spasticity	823	CAPN1	ORPHA:488594
HP:0034353	Appendicular spasticity	5832	ALDH18A1	OMIM:601162
HP:0034353	Appendicular spasticity	2583	B4GALNT1	ORPHA:101006
HP:0034353	Appendicular spasticity	2583	B4GALNT1	OMIM:609195
HP:0034353	Appendicular spasticity	57531	HACE1	ORPHA:464282
HP:0034353	Appendicular spasticity	57531	HACE1	OMIM:616756
HP:0034353	Appendicular spasticity	6687	SPG7	OMIM:607259
HP:0034353	Appendicular spasticity	57599	WDR48	ORPHA:401800
HP:0034353	Appendicular spasticity	26278	SACS	ORPHA:98
HP:0034353	Appendicular spasticity	5277	PIGA	OMIM:300868
HP:0034353	Appendicular spasticity	51271	UBAP1	OMIM:618418
HP:0034353	Appendicular spasticity	51271	UBAP1	ORPHA:100993
HP:0034353	Appendicular spasticity	6304	SATB1	OMIM:619229
HP:0034353	Appendicular spasticity	27010	TPK1	OMIM:614458
HP:0034353	Appendicular spasticity	6513	SLC2A1	ORPHA:98811
HP:0034353	Appendicular spasticity	112476	PRRT2	ORPHA:98811
HP:0034353	Appendicular spasticity	9907	AP5Z1	OMIM:613647
HP:0034353	Appendicular spasticity	9907	AP5Z1	ORPHA:306511
HP:0034353	Appendicular spasticity	220296	HEPACAM	OMIM:613925
HP:0034353	Appendicular spasticity	4953	ODC1	OMIM:619075
HP:0034353	Appendicular spasticity	340075	ARSI	ORPHA:401815
HP:0034353	Appendicular spasticity	9197	SLC33A1	ORPHA:171863
HP:0034353	Appendicular spasticity	91574	MTRFR	OMIM:615035
HP:0034353	Appendicular spasticity	91574	MTRFR	ORPHA:320375
HP:0034353	Appendicular spasticity	51501	HIKESHI	OMIM:616881
HP:0034353	Appendicular spasticity	1213	CLTC	OMIM:617854
HP:0034353	Appendicular spasticity	9354	UBE4A	OMIM:619639
HP:0034353	Appendicular spasticity	3839	KPNA3	OMIM:620106
HP:0034353	Appendicular spasticity	3839	KPNA3	ORPHA:171612
HP:0034353	Appendicular spasticity	26047	CNTNAP2	ORPHA:163681
HP:0034353	Appendicular spasticity	79759	ZNF668	OMIM:620194
HP:0034353	Appendicular spasticity	10613	ERLIN1	ORPHA:401785
HP:0034353	Appendicular spasticity	10613	ERLIN1	OMIM:615681
HP:0034353	Appendicular spasticity	23503	ZFYVE26	OMIM:270700
HP:0034353	Appendicular spasticity	23503	ZFYVE26	ORPHA:100996
HP:0034353	Appendicular spasticity	79796	ALG9	ORPHA:79328
HP:0034353	Appendicular spasticity	25814	ATXN10	ORPHA:98761
HP:0034353	Appendicular spasticity	57459	GATAD2B	ORPHA:363686
HP:0034353	Appendicular spasticity	80055	PGAP1	ORPHA:401820
HP:0034353	Appendicular spasticity	22978	NT5C2	ORPHA:320396
HP:0034353	Appendicular spasticity	22978	NT5C2	OMIM:613162
HP:0034353	Appendicular spasticity	6253	RTN2	OMIM:604805
HP:0034353	Appendicular spasticity	6253	RTN2	ORPHA:100993
HP:0034353	Appendicular spasticity	9409	PEX16	OMIM:614877
HP:0034353	Appendicular spasticity	57038	RARS2	OMIM:611523
HP:0034353	Appendicular spasticity	9338	TCEAL1	OMIM:301094
HP:0034353	Appendicular spasticity	2593	GAMT	OMIM:612736
HP:0034353	Appendicular spasticity	10667	FARS2	ORPHA:466722
HP:0034353	Appendicular spasticity	9101	USP8	ORPHA:401795
HP:0034353	Appendicular spasticity	23299	BICD2	OMIM:615290
HP:0034353	Appendicular spasticity	6904	TBCD	OMIM:617193
HP:0034353	Appendicular spasticity	4141	MARS1	ORPHA:401835
HP:0034353	Appendicular spasticity	339855	KY	ORPHA:496689
HP:0034353	Appendicular spasticity	10273	STUB1	ORPHA:412057
HP:0034353	Appendicular spasticity	3329	HSPD1	OMIM:605280
HP:0034353	Appendicular spasticity	3329	HSPD1	ORPHA:100994
HP:0034353	Appendicular spasticity	131118	DNAJC19	ORPHA:66634
HP:0034353	Appendicular spasticity	7415	VCP	OMIM:613954
HP:0034353	Appendicular spasticity	200403	VWA3B	OMIM:616948
HP:0034353	Appendicular spasticity	85021	REPS1	OMIM:617916
HP:0034353	Appendicular spasticity	26580	BSCL2	OMIM:270685
HP:0034353	Appendicular spasticity	6843	VAMP1	ORPHA:251282
HP:0034353	Appendicular spasticity	51663	ZFR	ORPHA:401840
HP:0034353	Appendicular spasticity	126129	CPT1C	ORPHA:444099
HP:0034353	Appendicular spasticity	3798	KIF5A	ORPHA:100991
HP:0034353	Appendicular spasticity	3798	KIF5A	OMIM:604187
HP:0034353	Appendicular spasticity	27072	VPS41	OMIM:619389
HP:0034353	Appendicular spasticity	84274	COQ5	OMIM:619028
HP:0034353	Appendicular spasticity	25793	FBXO7	OMIM:260300
HP:0034353	Appendicular spasticity	22948	CCT5	OMIM:256840
HP:0034353	Appendicular spasticity	51763	INPP5K	OMIM:617404
HP:0034353	Appendicular spasticity	84265	POLR3GL	OMIM:619234
HP:0034353	Appendicular spasticity	10159	ATP6AP2	ORPHA:363654
HP:0034353	Appendicular spasticity	55532	SLC30A10	ORPHA:309854
HP:0034353	Appendicular spasticity	55532	SLC30A10	OMIM:613280
HP:0034353	Appendicular spasticity	1593	CYP27A1	ORPHA:909
HP:0034353	Appendicular spasticity	54902	TTC19	OMIM:615157
HP:0034353	Appendicular spasticity	3425	IDUA	ORPHA:93474
HP:0034353	Appendicular spasticity	3425	IDUA	ORPHA:93473
HP:0034353	Appendicular spasticity	2670	GFAP	ORPHA:363722
HP:0034353	Appendicular spasticity	440193	CCDC88C	OMIM:616053
HP:0034353	Appendicular spasticity	440193	CCDC88C	ORPHA:423275
HP:0034353	Appendicular spasticity	80207	OPA3	ORPHA:67047
HP:0034353	Appendicular spasticity	125988	MICOS13	ORPHA:67047
HP:0034353	Appendicular spasticity	1910	EDNRB	OMIM:277580
HP:0034353	Appendicular spasticity	11152	WDR45	ORPHA:329284
HP:0034353	Appendicular spasticity	11152	WDR45	OMIM:300894
HP:0034353	Appendicular spasticity	93587	TRMT10A	ORPHA:391408
HP:0034353	Appendicular spasticity	84919	PPP1R15B	ORPHA:391408
HP:0034353	Appendicular spasticity	55149	MTPAP	OMIM:613672
HP:0034353	Appendicular spasticity	55149	MTPAP	ORPHA:254343
HP:0034353	Appendicular spasticity	10939	AFG3L2	OMIM:614487
HP:0034353	Appendicular spasticity	10939	AFG3L2	ORPHA:313772
HP:0034353	Appendicular spasticity	383	ARG1	OMIM:207800
HP:0034353	Appendicular spasticity	686	BTD	ORPHA:79241
HP:0034353	Appendicular spasticity	5428	POLG	ORPHA:726
HP:0034353	Appendicular spasticity	23389	MED13L	ORPHA:369891
HP:0034353	Appendicular spasticity	7276	TTR	OMIM:105210
HP:0034353	Appendicular spasticity	2697	GJA1	ORPHA:2710
HP:0034353	Appendicular spasticity	23141	ANKLE2	OMIM:616681
HP:0034353	Appendicular spasticity	776	CACNA1D	OMIM:615474
HP:0034353	Appendicular spasticity	2720	GLB1	OMIM:230600
HP:0034353	Appendicular spasticity	84942	WDR73	OMIM:251300
HP:0034353	Appendicular spasticity	6328	SCN3A	OMIM:617938
HP:0034353	Appendicular spasticity	8496	PPFIBP1	OMIM:620024
HP:0034353	Appendicular spasticity	56945	MRPS22	OMIM:611719
HP:0034353	Appendicular spasticity	1193	CLIC2	OMIM:300886
HP:0034353	Appendicular spasticity	1193	CLIC2	ORPHA:324410
HP:0034353	Appendicular spasticity	6567	SLC16A2	OMIM:300523
HP:0034353	Appendicular spasticity	6567	SLC16A2	ORPHA:59
HP:0034353	Appendicular spasticity	1436	CSF1R	OMIM:618476
HP:0034353	Appendicular spasticity	170302	ARX	OMIM:300004
HP:0034353	Appendicular spasticity	8867	SYNJ1	OMIM:617389
HP:0034353	Appendicular spasticity	644096	SDHAF1	OMIM:619166
HP:0034353	Appendicular spasticity	80347	COASY	OMIM:615643
HP:0034353	Appendicular spasticity	1841	DTYMK	OMIM:619847
HP:0034353	Appendicular spasticity	29078	NDUFAF4	OMIM:618237
HP:0034353	Appendicular spasticity	79133	NDUFAF5	OMIM:618238
HP:0034353	Appendicular spasticity	23431	AP4E1	OMIM:613744
HP:0034353	Appendicular spasticity	7846	TUBA1A	OMIM:611603
HP:0034353	Appendicular spasticity	9179	AP4M1	OMIM:612936
HP:0034353	Appendicular spasticity	79709	COLGALT1	OMIM:618360
HP:0034353	Appendicular spasticity	4204	MECP2	OMIM:300055
HP:0034353	Appendicular spasticity	535	ATP6V0A1	OMIM:619971
HP:0034353	Appendicular spasticity	22796	COG2	OMIM:617395
HP:0034353	Appendicular spasticity	22796	COG2	ORPHA:435934
HP:0034353	Appendicular spasticity	100131801	PET100	OMIM:619055
HP:0034353	Appendicular spasticity	7283	TUBG1	OMIM:615412
HP:0034353	Appendicular spasticity	79029	AFG2B	OMIM:619616
HP:0034353	Appendicular spasticity	10352	WARS2	OMIM:617710
HP:0034353	Appendicular spasticity	10352	WARS2	ORPHA:572798
HP:0034353	Appendicular spasticity	6709	SPTAN1	OMIM:613477
HP:0034353	Appendicular spasticity	1778	DYNC1H1	OMIM:614563
HP:0034353	Appendicular spasticity	3796	KIF2A	OMIM:615411
HP:0034353	Appendicular spasticity	123263	MTFMT	OMIM:618248
HP:0034353	Appendicular spasticity	170825	GSX2	OMIM:618646
HP:0034353	Appendicular spasticity	8560	DEGS1	OMIM:618404
HP:0034353	Appendicular spasticity	259232	NALCN	OMIM:615419
HP:0034353	Appendicular spasticity	259232	NALCN	ORPHA:371364
HP:0034353	Appendicular spasticity	549	AUH	OMIM:250950
HP:0034353	Appendicular spasticity	23258	DENND5A	OMIM:617281
HP:0034353	Appendicular spasticity	5903	RANBP2	ORPHA:88619
HP:0034353	Appendicular spasticity	5903	RANBP2	OMIM:608033
HP:0034353	Appendicular spasticity	22872	SEC31A	OMIM:618651
HP:0034353	Appendicular spasticity	132158	GLYCTK	OMIM:220120
HP:0034353	Appendicular spasticity	128637	TBC1D20	OMIM:615663
HP:0034353	Appendicular spasticity	4338	MOCS2	OMIM:252160
HP:0034353	Appendicular spasticity	6785	ELOVL4	OMIM:614457
HP:0034353	Appendicular spasticity	6905	TBCE	OMIM:617207
HP:0034353	Appendicular spasticity	26227	PHGDH	ORPHA:79351
HP:0034353	Appendicular spasticity	26227	PHGDH	OMIM:601815
HP:0034353	Appendicular spasticity	59336	PRDM13	OMIM:619909
HP:0034353	Appendicular spasticity	1267	CNP	OMIM:619071
HP:0034353	Appendicular spasticity	11019	LIAS	OMIM:614462
HP:0034353	Appendicular spasticity	56978	PRDM8	OMIM:616640
HP:0034353	Appendicular spasticity	6812	STXBP1	OMIM:612164
HP:0034353	Appendicular spasticity	51633	OTUD6B	OMIM:617452
HP:0034353	Appendicular spasticity	51633	OTUD6B	ORPHA:505237
HP:0034353	Appendicular spasticity	3747	KCNC2	OMIM:619913
HP:0034353	Appendicular spasticity	2517	FUCA1	OMIM:230000
HP:0034353	Appendicular spasticity	2517	FUCA1	ORPHA:349
HP:0034353	Appendicular spasticity	22931	RAB18	OMIM:614222
HP:0034353	Appendicular spasticity	4337	MOCS1	OMIM:252150
HP:0034353	Appendicular spasticity	51091	SEPSECS	OMIM:613811
HP:0034353	Appendicular spasticity	56270	WDR45B	OMIM:617977
HP:0034353	Appendicular spasticity	285175	UNC80	ORPHA:371364
HP:0034353	Appendicular spasticity	9289	ADGRG1	ORPHA:98889
HP:0034353	Appendicular spasticity	5297	PI4KA	ORPHA:98889
HP:0034353	Appendicular spasticity	27286	SRPX2	ORPHA:98889
HP:0034353	Appendicular spasticity	1528	CYB5A	ORPHA:621
HP:0034353	Appendicular spasticity	1727	CYB5R3	ORPHA:621
HP:0034353	Appendicular spasticity	51611	DPH5	OMIM:620070
HP:0034353	Appendicular spasticity	5700	PSMC1	OMIM:620071
HP:0034353	Appendicular spasticity	90522	YIF1B	OMIM:619125
HP:0034353	Appendicular spasticity	3800	KIF5C	OMIM:615282
HP:0034353	Appendicular spasticity	6472	SHMT2	OMIM:619121
HP:0034353	Appendicular spasticity	2893	GRIA4	OMIM:617864
HP:0034353	Appendicular spasticity	23400	ATP13A2	OMIM:617225
HP:0034353	Appendicular spasticity	10297	APC2	OMIM:618677
HP:0034353	Appendicular spasticity	55164	SHQ1	OMIM:619922
HP:0034353	Appendicular spasticity	6509	SLC1A4	OMIM:616657
HP:0034353	Appendicular spasticity	9562	MINPP1	OMIM:619527
HP:0034353	Appendicular spasticity	6663	SOX10	OMIM:609136
HP:0034353	Appendicular spasticity	55739	NAXD	OMIM:618321
HP:0034353	Appendicular spasticity	440	ASNS	OMIM:615574
HP:0034353	Appendicular spasticity	777	CACNA1E	OMIM:618285
HP:0034353	Appendicular spasticity	200205	IBA57	OMIM:615330
HP:0034353	Appendicular spasticity	1284	COL4A2	OMIM:614483
HP:0034353	Appendicular spasticity	64919	BCL11B	OMIM:617237
HP:0034353	Appendicular spasticity	55275	VPS53	OMIM:615851
HP:0034353	Appendicular spasticity	2806	GOT2	OMIM:618721
HP:0034353	Appendicular spasticity	51294	PCDH12	OMIM:251280
HP:0034353	Appendicular spasticity	23189	KANK1	OMIM:612900
HP:0034353	Appendicular spasticity	2055	CLN8	ORPHA:1947
HP:0034353	Appendicular spasticity	57192	MCOLN1	OMIM:252650
HP:0034353	Appendicular spasticity	28962	OSTM1	OMIM:259720
HP:0034353	Appendicular spasticity	80704	SLC19A3	ORPHA:263410
HP:0034353	Appendicular spasticity	3735	KARS1	OMIM:619147
HP:0034353	Appendicular spasticity	51645	PPIL1	OMIM:619301
HP:0034353	Appendicular spasticity	51362	CDC40	OMIM:619302
HP:0034353	Appendicular spasticity	51075	TMX2	OMIM:618730
HP:0034353	Appendicular spasticity	1496	CTNNA2	OMIM:618174
HP:0034353	Appendicular spasticity	8398	PLA2G6	OMIM:256600
HP:0034353	Appendicular spasticity	6326	SCN2A	OMIM:613721
HP:0034353	Appendicular spasticity	55770	EXOC2	OMIM:619306
HP:0034353	Appendicular spasticity	10695	CNPY3	OMIM:617929
HP:0034353	Appendicular spasticity	10535	RNASEH2A	ORPHA:51
HP:0034353	Appendicular spasticity	84153	RNASEH2C	ORPHA:51
HP:0034353	Appendicular spasticity	25939	SAMHD1	ORPHA:51
HP:0034353	Appendicular spasticity	79621	RNASEH2B	ORPHA:51
HP:0034353	Appendicular spasticity	103	ADAR	ORPHA:51
HP:0034353	Appendicular spasticity	11277	TREX1	ORPHA:51
HP:0034353	Appendicular spasticity	134353	LSM11	ORPHA:51
HP:0034353	Appendicular spasticity	64135	IFIH1	ORPHA:51
HP:0034353	Appendicular spasticity	2902	GRIN1	ORPHA:208447
HP:0034353	Appendicular spasticity	410	ARSA	OMIM:250100
HP:0034353	Appendicular spasticity	57187	THOC2	ORPHA:457240
HP:0034353	Appendicular spasticity	91942	NDUFAF2	ORPHA:255241
HP:0034353	Appendicular spasticity	6834	SURF1	ORPHA:255241
HP:0034353	Appendicular spasticity	4723	NDUFV1	ORPHA:255241
HP:0034353	Appendicular spasticity	55572	FOXRED1	ORPHA:255241
HP:0034353	Appendicular spasticity	4729	NDUFV2	ORPHA:255241
HP:0034353	Appendicular spasticity	55967	NDUFA12	ORPHA:255241
HP:0034353	Appendicular spasticity	4720	NDUFS2	ORPHA:255241
HP:0034353	Appendicular spasticity	4724	NDUFS4	ORPHA:255241
HP:0034353	Appendicular spasticity	4728	NDUFS8	ORPHA:255241
HP:0034353	Appendicular spasticity	137682	NDUFAF6	ORPHA:255241
HP:0034353	Appendicular spasticity	4722	NDUFS3	ORPHA:255241
HP:0034353	Appendicular spasticity	5160	PDHA1	ORPHA:255241
HP:0034353	Appendicular spasticity	1892	ECHS1	ORPHA:255241
HP:0034353	Appendicular spasticity	374291	NDUFS7	ORPHA:255241
HP:0034353	Appendicular spasticity	4705	NDUFA10	ORPHA:255241
HP:0034353	Appendicular spasticity	4719	NDUFS1	ORPHA:255241
HP:0034353	Appendicular spasticity	4695	NDUFA2	ORPHA:255241
HP:0034353	Appendicular spasticity	4704	NDUFA9	ORPHA:255241
HP:0034353	Appendicular spasticity	10717	AP4B1	ORPHA:280763
HP:0034353	Appendicular spasticity	11154	AP4S1	ORPHA:280763
HP:0034353	Appendicular spasticity	23769	FLRT1	ORPHA:320406
HP:0034353	Appendicular spasticity	64837	KLC2	ORPHA:320406
HP:0034353	Appendicular spasticity	8242	KDM5C	OMIM:300534
HP:0034353	Appendicular spasticity	57498	KIDINS220	ORPHA:521390
HP:0034353	Appendicular spasticity	5621	PRNP	ORPHA:282166
HP:0034353	Appendicular spasticity	3155	HMGCL	ORPHA:20
HP:0034353	Appendicular spasticity	116150	NUS1	OMIM:617082
HP:0034353	Appendicular spasticity	197258	FCSK	OMIM:618324
HP:0034353	Appendicular spasticity	116461	TSEN15	OMIM:617026
HP:0034353	Appendicular spasticity	55331	ACER3	OMIM:617762
HP:0034353	Appendicular spasticity	1822	ATN1	OMIM:618494
HP:0034353	Appendicular spasticity	160418	TMTC3	OMIM:617255
HP:0034353	Appendicular spasticity	9255	AIMP1	OMIM:260600
HP:0034353	Appendicular spasticity	51112	TRAPPC12	OMIM:617669
HP:0034353	Appendicular spasticity	54676	GTPBP2	OMIM:617988
HP:0034353	Appendicular spasticity	819	CAMLG	OMIM:620201
HP:0034353	Appendicular spasticity	84081	NSRP1	OMIM:620001
HP:0034353	Appendicular spasticity	1759	DNM1	OMIM:620352
HP:0034354	Trichoschisis	2068	ERCC2	OMIM:601675
HP:0034359	Impaired renal tubular reabsorption of phosphate	2628	GATM	OMIM:134600
HP:0034360	Action myoclonus	10715	CERS1	OMIM:616230
HP:0034360	Action myoclonus	8996	NOL3	OMIM:614937
HP:0034360	Action myoclonus	84823	LMNB2	OMIM:616540
HP:0034361	Redundant umbilical skin	2263	FGFR2	OMIM:123790
HP:0034361	Redundant umbilical skin	55033	FKBP14	OMIM:614557
HP:0034362	Dull foveal reflex	1261	CNGA3	OMIM:216900
HP:0034362	Dull foveal reflex	7287	TULP1	OMIM:613843
HP:0034363	Corneal pterygium	3909	LAMA3	OMIM:245660
HP:0034364	Fibrofatty replacement of right ventricular myocardium	5318	PKP2	OMIM:609040
HP:0034365	Elevated circulating alpha-aminoadipic semialdehyde concentration	501	ALDH7A1	OMIM:266100
HP:0034367	Decreased beta-mannosidase activity	4126	MANBA	OMIM:248510
HP:0034368	Urolithiasis	353	APRT	OMIM:614723
HP:0034368	Urolithiasis	5631	PRPS1	OMIM:300661
HP:0034368	Urolithiasis	116085	SLC22A12	OMIM:220150
HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	57017	COQ9	OMIM:614654
HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	57107	PDSS2	OMIM:614652
HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	56997	COQ8A	OMIM:612016
HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	27235	COQ2	OMIM:607426
HP:0034370	Abnormal muscle tissue metabolite concentration	2548	GAA	OMIM:232300
HP:0034370	Abnormal muscle tissue metabolite concentration	5213	PFKM	OMIM:232800
HP:0034370	Abnormal muscle tissue metabolite concentration	5213	PFKM	ORPHA:371
HP:0034370	Abnormal muscle tissue metabolite concentration	5257	PHKB	OMIM:261750
HP:0034370	Abnormal muscle tissue metabolite concentration	4556	MT-TE	ORPHA:254864
HP:0034370	Abnormal muscle tissue metabolite concentration	55687	TRMU	ORPHA:254864
HP:0034370	Abnormal muscle tissue metabolite concentration	55154	MSTO1	ORPHA:502423
HP:0034370	Abnormal muscle tissue metabolite concentration	2027	ENO3	OMIM:612932
HP:0034370	Abnormal muscle tissue metabolite concentration	5837	PYGM	ORPHA:368
HP:0034370	Abnormal muscle tissue metabolite concentration	5255	PHKA1	OMIM:300559
HP:0034370	Abnormal muscle tissue metabolite concentration	1376	CPT2	OMIM:608836
HP:0034370	Abnormal muscle tissue metabolite concentration	1376	CPT2	ORPHA:228302
HP:0034370	Abnormal muscle tissue metabolite concentration	57190	SELENON	ORPHA:324604
HP:0034370	Abnormal muscle tissue metabolite concentration	4625	MYH7	ORPHA:324604
HP:0034370	Abnormal muscle tissue metabolite concentration	7273	TTN	ORPHA:324604
HP:0034370	Abnormal muscle tissue metabolite concentration	7273	TTN	ORPHA:609
HP:0034370	Abnormal muscle tissue metabolite concentration	84665	MYPN	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	58	ACTA1	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	7169	TPM2	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	390594	KBTBD13	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	4703	NEB	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	10324	KLHL41	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	7170	TPM3	ORPHA:171439
HP:0034370	Abnormal muscle tissue metabolite concentration	57104	PNPLA2	ORPHA:565612
HP:0034370	Abnormal muscle tissue metabolite concentration	57104	PNPLA2	OMIM:610717
HP:0034370	Abnormal muscle tissue metabolite concentration	1303	COL12A1	ORPHA:610
HP:0034370	Abnormal muscle tissue metabolite concentration	1291	COL6A1	ORPHA:610
HP:0034370	Abnormal muscle tissue metabolite concentration	1292	COL6A2	ORPHA:610
HP:0034370	Abnormal muscle tissue metabolite concentration	1293	COL6A3	ORPHA:610
HP:0034370	Abnormal muscle tissue metabolite concentration	84570	COL25A1	ORPHA:91411
HP:0034370	Abnormal muscle tissue metabolite concentration	79776	ZFHX4	ORPHA:91411
HP:0034370	Abnormal muscle tissue metabolite concentration	1339	COX6A2	OMIM:619062
HP:0034370	Abnormal muscle tissue metabolite concentration	6329	SCN4A	ORPHA:681
HP:0034370	Abnormal muscle tissue metabolite concentration	779	CACNA1S	ORPHA:681
HP:0034370	Abnormal muscle tissue metabolite concentration	779	CACNA1S	ORPHA:79102
HP:0034370	Abnormal muscle tissue metabolite concentration	10008	KCNE3	ORPHA:681
HP:0034370	Abnormal muscle tissue metabolite concentration	4697	NDUFA4	OMIM:619065
HP:0034370	Abnormal muscle tissue metabolite concentration	4574	MT-TS1	OMIM:220110
HP:0034370	Abnormal muscle tissue metabolite concentration	4570	MT-TN	OMIM:220110
HP:0034370	Abnormal muscle tissue metabolite concentration	6834	SURF1	OMIM:220110
HP:0034370	Abnormal muscle tissue metabolite concentration	8802	SUCLG1	ORPHA:17
HP:0034370	Abnormal muscle tissue metabolite concentration	51099	ABHD5	ORPHA:98907
HP:0034370	Abnormal muscle tissue metabolite concentration	4285	MIPEP	OMIM:617228
HP:0034370	Abnormal muscle tissue metabolite concentration	4724	NDUFS4	OMIM:252010
HP:0034370	Abnormal muscle tissue metabolite concentration	10939	AFG3L2	OMIM:614487
HP:0034370	Abnormal muscle tissue metabolite concentration	400916	CHCHD10	ORPHA:457050
HP:0034370	Abnormal muscle tissue metabolite concentration	56997	COQ8A	OMIM:612016
HP:0034370	Abnormal muscle tissue metabolite concentration	100134444	KCNJ18	ORPHA:79102
HP:0034370	Abnormal muscle tissue metabolite concentration	2556	GABRA3	ORPHA:79102
HP:0034370	Abnormal muscle tissue metabolite concentration	23479	ISCU	OMIM:255125
HP:0034370	Abnormal muscle tissue metabolite concentration	6389	SDHA	OMIM:252011
HP:0034370	Abnormal muscle tissue metabolite concentration	2997	GYS1	OMIM:611556
HP:0034370	Abnormal muscle tissue metabolite concentration	2992	GYG1	ORPHA:263297
HP:0034370	Abnormal muscle tissue metabolite concentration	5256	PHKA2	ORPHA:264580
HP:0034370	Abnormal muscle tissue metabolite concentration	5261	PHKG2	ORPHA:264580
HP:0034370	Abnormal muscle tissue metabolite concentration	6584	SLC22A5	OMIM:212140
HP:0034370	Abnormal muscle tissue metabolite concentration	57017	COQ9	OMIM:614654
HP:0034370	Abnormal muscle tissue metabolite concentration	57107	PDSS2	OMIM:614652
HP:0034370	Abnormal muscle tissue metabolite concentration	27235	COQ2	OMIM:607426
HP:0034371	Reduced circulating prekallikrein concentration	3818	KLKB1	OMIM:612423
HP:0034372	Internal tibial torsion	1299	COL9A3	OMIM:620022
HP:0034372	Internal tibial torsion	1280	COL2A1	OMIM:616583
HP:0034374	Trident acetabulum	255758	DYNLT2B	OMIM:617405
HP:0034375	Spherophakia	2200	FBN1	OMIM:608328
HP:0034375	Spherophakia	2200	FBN1	OMIM:154700
HP:0034375	Spherophakia	4053	LTBP2	OMIM:614819
HP:0034375	Spherophakia	4053	LTBP2	OMIM:251750
HP:0034375	Spherophakia	81794	ADAMTS10	OMIM:277600
HP:0034375	Spherophakia	444	ASPH	OMIM:601552
HP:0034376	Atrioventricular valve regurgitation	4088	SMAD3	ORPHA:284984
HP:0034376	Atrioventricular valve regurgitation	4088	SMAD3	OMIM:613795
HP:0034376	Atrioventricular valve regurgitation	10128	LRPPRC	OMIM:220111
HP:0034376	Atrioventricular valve regurgitation	894	CCND2	ORPHA:83473
HP:0034376	Atrioventricular valve regurgitation	5296	PIK3R2	ORPHA:83473
HP:0034376	Atrioventricular valve regurgitation	5296	PIK3R2	OMIM:603387
HP:0034376	Atrioventricular valve regurgitation	10000	AKT3	ORPHA:83473
HP:0034376	Atrioventricular valve regurgitation	8216	LZTR1	OMIM:616564
HP:0034376	Atrioventricular valve regurgitation	151648	SGO1	OMIM:616201
HP:0034376	Atrioventricular valve regurgitation	6016	RIT1	OMIM:615355
HP:0034376	Atrioventricular valve regurgitation	23394	ADNP	OMIM:615873
HP:0034376	Atrioventricular valve regurgitation	79912	PYROXD1	OMIM:617258
HP:0034376	Atrioventricular valve regurgitation	1788	DNMT3A	OMIM:615879
HP:0034376	Atrioventricular valve regurgitation	1788	DNMT3A	ORPHA:404443
HP:0034376	Atrioventricular valve regurgitation	4091	SMAD6	OMIM:614823
HP:0034376	Atrioventricular valve regurgitation	2316	FLNA	OMIM:314400
HP:0034376	Atrioventricular valve regurgitation	2316	FLNA	ORPHA:88630
HP:0034376	Atrioventricular valve regurgitation	2316	FLNA	ORPHA:555877
HP:0034376	Atrioventricular valve regurgitation	5428	POLG	OMIM:258450
HP:0034376	Atrioventricular valve regurgitation	5428	POLG	OMIM:607459
HP:0034376	Atrioventricular valve regurgitation	5894	RAF1	OMIM:615916
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	ORPHA:284979
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	OMIM:154700
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	OMIM:614185
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	OMIM:608328
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	ORPHA:3449
HP:0034376	Atrioventricular valve regurgitation	2200	FBN1	ORPHA:2462
HP:0034376	Atrioventricular valve regurgitation	411	ARSB	OMIM:253200
HP:0034376	Atrioventricular valve regurgitation	4125	MAN2B1	ORPHA:309282
HP:0034376	Atrioventricular valve regurgitation	1837	DTNA	OMIM:604169
HP:0034376	Atrioventricular valve regurgitation	1278	COL1A2	ORPHA:230851
HP:0034376	Atrioventricular valve regurgitation	1278	COL1A2	OMIM:225320
HP:0034376	Atrioventricular valve regurgitation	6392	SDHD	OMIM:619167
HP:0034376	Atrioventricular valve regurgitation	84665	MYPN	OMIM:615248
HP:0034376	Atrioventricular valve regurgitation	84665	MYPN	ORPHA:75249
HP:0034376	Atrioventricular valve regurgitation	10516	FBLN5	OMIM:614434
HP:0034376	Atrioventricular valve regurgitation	10516	FBLN5	ORPHA:90348
HP:0034376	Atrioventricular valve regurgitation	2201	FBN2	OMIM:121050
HP:0034376	Atrioventricular valve regurgitation	10216	PRG4	ORPHA:2848
HP:0034376	Atrioventricular valve regurgitation	55033	FKBP14	OMIM:614557
HP:0034376	Atrioventricular valve regurgitation	79158	GNPTAB	OMIM:252500
HP:0034376	Atrioventricular valve regurgitation	79158	GNPTAB	ORPHA:576
HP:0034376	Atrioventricular valve regurgitation	3949	LDLR	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	255738	PCSK9	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	26119	LDLRAP1	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	338	APOB	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	64240	ABCG5	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	64241	ABCG8	ORPHA:391665
HP:0034376	Atrioventricular valve regurgitation	6660	SOX5	ORPHA:313892
HP:0034376	Atrioventricular valve regurgitation	6197	RPS6KA3	OMIM:303600
HP:0034376	Atrioventricular valve regurgitation	2626	GATA4	OMIM:607941
HP:0034376	Atrioventricular valve regurgitation	2626	GATA4	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	65082	VPS33A	ORPHA:505248
HP:0034376	Atrioventricular valve regurgitation	3074	HEXB	ORPHA:309155
HP:0034376	Atrioventricular valve regurgitation	56915	EXOSC5	OMIM:619576
HP:0034376	Atrioventricular valve regurgitation	8642	DCHS1	OMIM:607829
HP:0034376	Atrioventricular valve regurgitation	63976	PRDM16	OMIM:615373
HP:0034376	Atrioventricular valve regurgitation	10265	IRX5	OMIM:611174
HP:0034376	Atrioventricular valve regurgitation	9469	CHST3	OMIM:143095
HP:0034376	Atrioventricular valve regurgitation	92579	G6PC3	OMIM:612541
HP:0034376	Atrioventricular valve regurgitation	4000	LMNA	OMIM:212112
HP:0034376	Atrioventricular valve regurgitation	4000	LMNA	ORPHA:740
HP:0034376	Atrioventricular valve regurgitation	4000	LMNA	ORPHA:363618
HP:0034376	Atrioventricular valve regurgitation	29940	DSE	OMIM:615539
HP:0034376	Atrioventricular valve regurgitation	83550	GPR101	ORPHA:963
HP:0034376	Atrioventricular valve regurgitation	9049	AIP	ORPHA:963
HP:0034376	Atrioventricular valve regurgitation	2717	GLA	ORPHA:324
HP:0034376	Atrioventricular valve regurgitation	54539	NDUFB11	ORPHA:2556
HP:0034376	Atrioventricular valve regurgitation	1349	COX7B	ORPHA:2556
HP:0034376	Atrioventricular valve regurgitation	3052	HCCS	ORPHA:2556
HP:0034376	Atrioventricular valve regurgitation	1277	COL1A1	ORPHA:287
HP:0034376	Atrioventricular valve regurgitation	1289	COL5A1	ORPHA:287
HP:0034376	Atrioventricular valve regurgitation	1290	COL5A2	ORPHA:287
HP:0034376	Atrioventricular valve regurgitation	4763	NF1	ORPHA:363700
HP:0034376	Atrioventricular valve regurgitation	1193	CLIC2	ORPHA:324410
HP:0034376	Atrioventricular valve regurgitation	79576	NKAP	OMIM:301039
HP:0034376	Atrioventricular valve regurgitation	2318	FLNC	OMIM:617047
HP:0034376	Atrioventricular valve regurgitation	2318	FLNC	ORPHA:75249
HP:0034376	Atrioventricular valve regurgitation	4015	LOX	OMIM:617168
HP:0034376	Atrioventricular valve regurgitation	6885	MAP3K7	OMIM:157800
HP:0034376	Atrioventricular valve regurgitation	6885	MAP3K7	ORPHA:3238
HP:0034376	Atrioventricular valve regurgitation	2720	GLB1	OMIM:253010
HP:0034376	Atrioventricular valve regurgitation	1482	NKX2-5	OMIM:225250
HP:0034376	Atrioventricular valve regurgitation	1482	NKX2-5	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	175	AGA	OMIM:208400
HP:0034376	Atrioventricular valve regurgitation	3425	IDUA	OMIM:607014
HP:0034376	Atrioventricular valve regurgitation	3425	IDUA	OMIM:607015
HP:0034376	Atrioventricular valve regurgitation	9531	BAG3	OMIM:612954
HP:0034376	Atrioventricular valve regurgitation	4089	SMAD4	OMIM:175050
HP:0034376	Atrioventricular valve regurgitation	7092	TLL1	ORPHA:99106
HP:0034376	Atrioventricular valve regurgitation	7092	TLL1	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	81794	ADAMTS10	OMIM:277600
HP:0034376	Atrioventricular valve regurgitation	81794	ADAMTS10	ORPHA:3449
HP:0034376	Atrioventricular valve regurgitation	5337	PLD1	OMIM:212093
HP:0034376	Atrioventricular valve regurgitation	57057	TBX20	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	4624	MYH6	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	70	ACTC1	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	10370	CITED2	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	2627	GATA6	ORPHA:99103
HP:0034376	Atrioventricular valve regurgitation	10664	CTCF	ORPHA:363611
HP:0034376	Atrioventricular valve regurgitation	3572	IL6ST	OMIM:619750
HP:0034376	Atrioventricular valve regurgitation	6125	RPL5	OMIM:612561
HP:0034376	Atrioventricular valve regurgitation	5828	PEX2	OMIM:614866
HP:0034376	Atrioventricular valve regurgitation	6804	STX1A	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	7461	CLIP2	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	84277	DNAJC30	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	8468	FKBP6	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	5982	RFC2	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	2969	GTF2I	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	3984	LIMK1	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	9569	GTF2IRD1	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	155382	VPS37D	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	155368	METTL27	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	114049	BUD23	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	7458	EIF4H	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	84163	GTF2IRD2	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	9275	BCL7B	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	26608	TBL2	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	653361	NCF1	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	135886	TMEM270	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	51085	MLXIPL	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	51085	MLXIPL	OMIM:194050
HP:0034376	Atrioventricular valve regurgitation	9031	BAZ1B	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	2006	ELN	ORPHA:904
HP:0034376	Atrioventricular valve regurgitation	2006	ELN	OMIM:123700
HP:0034376	Atrioventricular valve regurgitation	2006	ELN	OMIM:194050
HP:0034376	Atrioventricular valve regurgitation	2006	ELN	ORPHA:90348
HP:0034376	Atrioventricular valve regurgitation	79770	TXNDC15	OMIM:619879
HP:0034376	Atrioventricular valve regurgitation	10290	SPEG	OMIM:615959
HP:0034376	Atrioventricular valve regurgitation	3032	HADHB	ORPHA:746
HP:0034376	Atrioventricular valve regurgitation	3030	HADHA	ORPHA:746
HP:0034376	Atrioventricular valve regurgitation	7139	TNNT2	ORPHA:75249
HP:0034376	Atrioventricular valve regurgitation	7137	TNNI3	ORPHA:75249
HP:0034376	Atrioventricular valve regurgitation	10112	KIF20A	ORPHA:75249
HP:0034376	Atrioventricular valve regurgitation	7168	TPM1	OMIM:611878
HP:0034376	Atrioventricular valve regurgitation	83475	DOHH	OMIM:620066
HP:0034376	Atrioventricular valve regurgitation	51284	TLR7	OMIM:301080
HP:0034376	Atrioventricular valve regurgitation	25915	NDUFAF3	ORPHA:70474
HP:0034376	Atrioventricular valve regurgitation	4714	NDUFB8	ORPHA:70474
HP:0034376	Atrioventricular valve regurgitation	4720	NDUFS2	ORPHA:70474
HP:0034376	Atrioventricular valve regurgitation	9997	SCO2	ORPHA:70474
HP:0034376	Atrioventricular valve regurgitation	6834	SURF1	ORPHA:70474
HP:0034376	Atrioventricular valve regurgitation	10269	ZMPSTE24	ORPHA:740
HP:0034376	Atrioventricular valve regurgitation	113189	CHST14	OMIM:601776
HP:0034376	Atrioventricular valve regurgitation	2629	GBA1	OMIM:230800
HP:0034376	Atrioventricular valve regurgitation	10651	MTX2	OMIM:619127
HP:0034376	Atrioventricular valve regurgitation	368	ABCC6	OMIM:614473
HP:0034376	Atrioventricular valve regurgitation	5594	MAPK1	OMIM:619087
HP:0034376	Atrioventricular valve regurgitation	29123	ANKRD11	ORPHA:261250
HP:0034376	Atrioventricular valve regurgitation	5500	PPP1CB	OMIM:617506
HP:0034376	Atrioventricular valve regurgitation	4625	MYH7	OMIM:613426
HP:0034376	Atrioventricular valve regurgitation	54800	KLHL24	OMIM:620236
HP:0034376	Atrioventricular valve regurgitation	2799	GNS	OMIM:252940
HP:0034376	Atrioventricular valve regurgitation	2273	FHL1	OMIM:300280
HP:0034376	Atrioventricular valve regurgitation	126792	B3GALT6	OMIM:271640
HP:0034376	Atrioventricular valve regurgitation	6123	RPL3L	OMIM:619371
HP:0034376	Atrioventricular valve regurgitation	442721	LMOD2	OMIM:619897
HP:0034376	Atrioventricular valve regurgitation	89970	RSPRY1	ORPHA:457395
HP:0034376	Atrioventricular valve regurgitation	4053	LTBP2	ORPHA:3449
HP:0034376	Atrioventricular valve regurgitation	5832	ALDH18A1	ORPHA:90348
HP:0034376	Atrioventricular valve regurgitation	5832	ALDH18A1	ORPHA:447753
HP:0034376	Atrioventricular valve regurgitation	8815	BANF1	OMIM:614008
HP:0034376	Atrioventricular valve regurgitation	22873	DZIP1	OMIM:610840
HP:0034376	Atrioventricular valve regurgitation	55901	THSD1	OMIM:620244
HP:0034376	Atrioventricular valve regurgitation	84188	FAR1	ORPHA:447753
HP:0034376	Atrioventricular valve regurgitation	57538	ALPK3	OMIM:618052
HP:0034376	Atrioventricular valve regurgitation	56652	TWNK	OMIM:607459
HP:0034376	Atrioventricular valve regurgitation	1410	CRYAB	OMIM:615184
HP:0034376	Atrioventricular valve regurgitation	4633	MYL2	OMIM:619424
HP:0034376	Atrioventricular valve regurgitation	5310	PKD1	OMIM:173900
HP:0034376	Atrioventricular valve regurgitation	7043	TGFB3	OMIM:615582
HP:0034376	Atrioventricular valve regurgitation	341208	HEPHL1	OMIM:261990
HP:0034376	Atrioventricular valve regurgitation	867	CBL	OMIM:613563
HP:0034376	Atrioventricular valve regurgitation	23590	PDSS1	OMIM:614651
HP:0034376	Atrioventricular valve regurgitation	6497	SKI	ORPHA:2462
HP:0034376	Atrioventricular valve regurgitation	4054	LTBP3	OMIM:617809
HP:0034376	Atrioventricular valve regurgitation	149233	IL23R	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	6775	STAT4	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	3586	IL10	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	4210	MEFV	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	1230	CCR1	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	355	FAS	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	3592	IL12A	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	101928376	IL12A-AS1	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	3106	HLA-B	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	7099	TLR4	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	3459	IFNGR1	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	720	C4A	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	337867	UBAC2	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	51752	ERAP1	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	8302	KLRC4	ORPHA:117
HP:0034376	Atrioventricular valve regurgitation	6584	SLC22A5	OMIM:212140
HP:0034376	Atrioventricular valve regurgitation	6331	SCN5A	OMIM:614022
HP:0034376	Atrioventricular valve regurgitation	54892	NCAPG2	OMIM:618460
HP:0034376	Atrioventricular valve regurgitation	4750	NEK1	OMIM:263520
HP:0034376	Atrioventricular valve regurgitation	29957	SLC25A24	OMIM:612289
HP:0034376	Atrioventricular valve regurgitation	171019	ADAMTS19	OMIM:620067
HP:0034376	Atrioventricular valve regurgitation	79796	ALG9	ORPHA:79328
HP:0034376	Atrioventricular valve regurgitation	114803	MYSM1	ORPHA:508542
HP:0034376	Atrioventricular valve regurgitation	23118	TAB2	ORPHA:228410
HP:0034376	Atrioventricular valve regurgitation	1857	DVL3	OMIM:616894
HP:0034376	Atrioventricular valve regurgitation	55790	CSGALNACT1	OMIM:618870
HP:0034376	Atrioventricular valve regurgitation	6901	TAFAZZIN	OMIM:302060
HP:0034376	Atrioventricular valve regurgitation	5573	PRKAR1A	ORPHA:615
HP:0034376	Atrioventricular valve regurgitation	10551	AGR2	OMIM:620233
HP:0034376	Atrioventricular valve regurgitation	7125	TNNC2	OMIM:620161
HP:0034376	Atrioventricular valve regurgitation	1340	COX6B1	OMIM:619051
HP:0034376	Atrioventricular valve regurgitation	4841	NONO	ORPHA:466791
HP:0034376	Atrioventricular valve regurgitation	79989	IFT56	OMIM:619534
HP:0034376	Atrioventricular valve regurgitation	537	ATP6AP1	OMIM:300972
HP:0034376	Atrioventricular valve regurgitation	54567	DLL4	OMIM:616589
HP:0034376	Atrioventricular valve regurgitation	388753	COA6	OMIM:616501
HP:0034376	Atrioventricular valve regurgitation	5885	RAD21	OMIM:611376
HP:0034376	Atrioventricular valve regurgitation	84100	ARL6	OMIM:600151
HP:0034376	Atrioventricular valve regurgitation	1000	CDH2	OMIM:618929
HP:0034376	Atrioventricular valve regurgitation	6045	RNF2	OMIM:619460
HP:0034376	Atrioventricular valve regurgitation	1616	DAXX	ORPHA:100075
HP:0034376	Atrioventricular valve regurgitation	546	ATRX	ORPHA:100075
HP:0034376	Atrioventricular valve regurgitation	22884	WDR37	OMIM:618652
HP:0034376	Atrioventricular valve regurgitation	96459	FNIP1	OMIM:619705
HP:0034376	Atrioventricular valve regurgitation	529	ATP6V1E1	OMIM:617402
HP:0034376	Atrioventricular valve regurgitation	1954	MEGF8	OMIM:614976
HP:0034378	Urethrovesical occlusion	3187	HNRNPH1	OMIM:620083
HP:0034378	Urethrovesical occlusion	54796	BNC2	OMIM:618612
HP:0034378	Urethrovesical occlusion	54796	BNC2	ORPHA:93110
HP:0034378	Urethrovesical occlusion	10847	SRCAP	ORPHA:2044
HP:0034378	Urethrovesical occlusion	10847	SRCAP	OMIM:136140
HP:0034378	Urethrovesical occlusion	4281	MID1	OMIM:300000
HP:0034378	Urethrovesical occlusion	1131	CHRM3	ORPHA:2970
HP:0034378	Urethrovesical occlusion	1131	CHRM3	OMIM:100100
HP:0034378	Urethrovesical occlusion	3481	IGF2	OMIM:180860
HP:0034378	Urethrovesical occlusion	64324	NSD1	ORPHA:821
HP:0034378	Urethrovesical occlusion	29072	SETD2	ORPHA:821
HP:0034378	Urethrovesical occlusion	10297	APC2	ORPHA:821
HP:0034378	Urethrovesical occlusion	5339	PLEC	OMIM:226730
HP:0034378	Urethrovesical occlusion	3691	ITGB4	OMIM:226730
HP:0034381	Central nervous system axonal spheroid	1436	CSF1R	OMIM:221820
HP:0034383	Elevated circulating biliverdin concentration	644	BLVRA	OMIM:614156
HP:0034384	Elevated circulating insulin:C-peptide ratio	3643	INSR	OMIM:609968
HP:0034385	Abnormal left ventricular endsystolic diameter	8048	CSRP3	OMIM:612124
HP:0034385	Abnormal left ventricular endsystolic diameter	54800	KLHL24	OMIM:620236
HP:0034386	Reduced left ventricular endsystolic diameter	8048	CSRP3	OMIM:612124
HP:0034386	Reduced left ventricular endsystolic diameter	54800	KLHL24	OMIM:620236
HP:0034388	Hilar lymph node enlargement	10551	AGR2	OMIM:620233
HP:0034390	Decreased CSF glycine concentration	29968	PSAT1	OMIM:610992
HP:0034391	Elbow contracture	2137	EXTL3	ORPHA:508533
HP:0034391	Elbow contracture	11160	ERLIN2	ORPHA:280384
HP:0034391	Elbow contracture	11160	ERLIN2	ORPHA:209951
HP:0034391	Elbow contracture	4921	DDR2	OMIM:271665
HP:0034391	Elbow contracture	4921	DDR2	OMIM:618175
HP:0034391	Elbow contracture	57190	SELENON	ORPHA:97244
HP:0034391	Elbow contracture	57190	SELENON	ORPHA:2020
HP:0034391	Elbow contracture	58	ACTA1	ORPHA:97244
HP:0034391	Elbow contracture	58	ACTA1	ORPHA:2020
HP:0034391	Elbow contracture	83932	SPRTN	OMIM:616200
HP:0034391	Elbow contracture	100151683	RNU4ATAC	OMIM:210710
HP:0034391	Elbow contracture	100151683	RNU4ATAC	OMIM:226960
HP:0034391	Elbow contracture	4010	LMX1B	ORPHA:2614
HP:0034391	Elbow contracture	5352	PLOD2	OMIM:609220
HP:0034391	Elbow contracture	1303	COL12A1	ORPHA:75840
HP:0034391	Elbow contracture	1303	COL12A1	ORPHA:536516
HP:0034391	Elbow contracture	1303	COL12A1	ORPHA:610
HP:0034391	Elbow contracture	1291	COL6A1	ORPHA:75840
HP:0034391	Elbow contracture	1291	COL6A1	ORPHA:610
HP:0034391	Elbow contracture	1291	COL6A1	OMIM:158810
HP:0034391	Elbow contracture	1292	COL6A2	ORPHA:75840
HP:0034391	Elbow contracture	1292	COL6A2	ORPHA:610
HP:0034391	Elbow contracture	1292	COL6A2	OMIM:158810
HP:0034391	Elbow contracture	1293	COL6A3	ORPHA:75840
HP:0034391	Elbow contracture	1293	COL6A3	ORPHA:610
HP:0034391	Elbow contracture	1293	COL6A3	OMIM:158810
HP:0034391	Elbow contracture	5447	POR	ORPHA:95699
HP:0034391	Elbow contracture	4000	LMNA	OMIM:181350
HP:0034391	Elbow contracture	4000	LMNA	OMIM:248370
HP:0034391	Elbow contracture	4000	LMNA	OMIM:616516
HP:0034391	Elbow contracture	4000	LMNA	ORPHA:98855
HP:0034391	Elbow contracture	4000	LMNA	ORPHA:98853
HP:0034391	Elbow contracture	6840	SVIL	OMIM:619040
HP:0034391	Elbow contracture	1836	SLC26A2	ORPHA:56304
HP:0034391	Elbow contracture	1836	SLC26A2	ORPHA:93307
HP:0034391	Elbow contracture	55315	SLC29A3	OMIM:602782
HP:0034391	Elbow contracture	825	CAPN3	ORPHA:267
HP:0034391	Elbow contracture	91179	SCARF2	OMIM:600920
HP:0034391	Elbow contracture	3714	JAG2	OMIM:619566
HP:0034391	Elbow contracture	6536	SLC6A9	OMIM:617301
HP:0034391	Elbow contracture	2201	FBN2	OMIM:121050
HP:0034391	Elbow contracture	5831	PYCR1	OMIM:614438
HP:0034391	Elbow contracture	2067	ERCC1	OMIM:610758
HP:0034391	Elbow contracture	2316	FLNA	OMIM:305620
HP:0034391	Elbow contracture	2316	FLNA	ORPHA:1826
HP:0034391	Elbow contracture	4621	MYH3	OMIM:193700
HP:0034391	Elbow contracture	4621	MYH3	OMIM:178110
HP:0034391	Elbow contracture	2010	EMD	OMIM:310300
HP:0034391	Elbow contracture	2010	EMD	ORPHA:98863
HP:0034391	Elbow contracture	5351	PLOD1	ORPHA:1900
HP:0034391	Elbow contracture	7020	TFAP2A	OMIM:113620
HP:0034391	Elbow contracture	6926	TBX3	OMIM:181450
HP:0034391	Elbow contracture	4633	MYL2	ORPHA:2020
HP:0034391	Elbow contracture	3679	ITGA7	ORPHA:2020
HP:0034391	Elbow contracture	7169	TPM2	ORPHA:2020
HP:0034391	Elbow contracture	7169	TPM2	OMIM:108120
HP:0034391	Elbow contracture	9200	HACD1	ORPHA:2020
HP:0034391	Elbow contracture	7170	TPM3	ORPHA:2020
HP:0034391	Elbow contracture	51776	MAP3K20	ORPHA:2020
HP:0034391	Elbow contracture	3977	LIFR	OMIM:601559
HP:0034391	Elbow contracture	3977	LIFR	ORPHA:3206
HP:0034391	Elbow contracture	127833	SYT2	OMIM:619461
HP:0034391	Elbow contracture	54681	P4HTM	OMIM:618493
HP:0034391	Elbow contracture	5277	PIGA	OMIM:300868
HP:0034391	Elbow contracture	8985	PLOD3	OMIM:612394
HP:0034391	Elbow contracture	545	ATR	OMIM:210600
HP:0034391	Elbow contracture	6023	RMRP	OMIM:607095
HP:0034391	Elbow contracture	3908	LAMA2	OMIM:618138
HP:0034391	Elbow contracture	2783	GNB2	OMIM:619503
HP:0034391	Elbow contracture	4632	MYL1	OMIM:618414
HP:0034391	Elbow contracture	9244	CRLF1	OMIM:272430
HP:0034391	Elbow contracture	2074	ERCC6	OMIM:214150
HP:0034391	Elbow contracture	9653	HS2ST1	OMIM:619194
HP:0034391	Elbow contracture	9051	PSTPIP1	OMIM:604416
HP:0034391	Elbow contracture	59341	TRPV4	OMIM:600175
HP:0034391	Elbow contracture	59341	TRPV4	OMIM:184252
HP:0034391	Elbow contracture	84065	TMEM222	OMIM:619470
HP:0034391	Elbow contracture	3835	KIF22	ORPHA:93360
HP:0034391	Elbow contracture	9791	PTDSS1	OMIM:151050
HP:0034391	Elbow contracture	5307	PITX1	OMIM:186550
HP:0034391	Elbow contracture	6628	SNRPB	OMIM:117650
HP:0034391	Elbow contracture	29895	MYL11	OMIM:619110
HP:0034391	Elbow contracture	340419	RSPO2	OMIM:618022
HP:0034391	Elbow contracture	1861	TOR1A	OMIM:618947
HP:0034391	Elbow contracture	23233	EXOC6B	ORPHA:93359
HP:0034391	Elbow contracture	126792	B3GALT6	ORPHA:93359
HP:0034391	Elbow contracture	259232	NALCN	ORPHA:371364
HP:0034391	Elbow contracture	259232	NALCN	OMIM:616266
HP:0034391	Elbow contracture	285175	UNC80	ORPHA:371364
HP:0034391	Elbow contracture	84992	PIGY	OMIM:616809
HP:0034391	Elbow contracture	2200	FBN1	OMIM:608328
HP:0034391	Elbow contracture	2200	FBN1	OMIM:184900
HP:0034391	Elbow contracture	2222	FDFT1	OMIM:618156
HP:0034391	Elbow contracture	163175	LGI4	OMIM:617468
HP:0034391	Elbow contracture	60681	FKBP10	OMIM:259450
HP:0034391	Elbow contracture	2799	GNS	OMIM:252940
HP:0034391	Elbow contracture	9215	LARGE1	OMIM:608840
HP:0034391	Elbow contracture	1376	CPT2	OMIM:608836
HP:0034391	Elbow contracture	342035	GLDN	OMIM:617194
HP:0034391	Elbow contracture	339855	KY	OMIM:617114
HP:0034391	Elbow contracture	5286	PIK3C2A	OMIM:618440
HP:0034391	Elbow contracture	7317	UBA1	ORPHA:1145
HP:0034391	Elbow contracture	25836	NIPBL	OMIM:122470
HP:0034391	Elbow contracture	23219	FBXO28	OMIM:619777
HP:0034391	Elbow contracture	55681	SCYL2	ORPHA:1143
HP:0034391	Elbow contracture	84570	COL25A1	ORPHA:1143
HP:0034391	Elbow contracture	57222	ERGIC1	ORPHA:1143
HP:0034391	Elbow contracture	7476	WNT7A	OMIM:276820
HP:0034391	Elbow contracture	6885	MAP3K7	ORPHA:1826
HP:0034391	Elbow contracture	64116	SLC39A8	ORPHA:468699
HP:0034391	Elbow contracture	5832	ALDH18A1	ORPHA:447757
HP:0034391	Elbow contracture	2273	FHL1	ORPHA:98863
HP:0034391	Elbow contracture	6913	TBX15	ORPHA:93333
HP:0034391	Elbow contracture	157570	ESCO2	OMIM:268300
HP:0034391	Elbow contracture	9469	CHST3	OMIM:245600
HP:0034391	Elbow contracture	26229	B3GAT3	OMIM:245600
HP:0034391	Elbow contracture	91137	SLC25A46	OMIM:619303
HP:0034391	Elbow contracture	9427	ECEL1	OMIM:615065
HP:0034391	Elbow contracture	2706	GJB2	OMIM:148210
HP:0034391	Elbow contracture	5696	PSMB8	OMIM:256040
HP:0034391	Elbow contracture	1756	DMD	ORPHA:206546
HP:0034391	Elbow contracture	79188	TMEM43	ORPHA:98853
HP:0034391	Elbow contracture	23345	SYNE1	ORPHA:98853
HP:0034391	Elbow contracture	23224	SYNE2	ORPHA:98853
HP:0034391	Elbow contracture	203859	ANO5	ORPHA:206549
HP:0034391	Elbow contracture	3481	IGF2	OMIM:616489
HP:0034391	Elbow contracture	23387	SIK3	OMIM:618162
HP:0034391	Elbow contracture	57038	RARS2	OMIM:611523
HP:0034391	Elbow contracture	79147	FKRP	OMIM:606612
HP:0034391	Elbow contracture	79644	SRD5A3	OMIM:612713
HP:0034391	Elbow contracture	4593	MUSK	OMIM:208150
HP:0034391	Elbow contracture	23327	NEDD4L	OMIM:617201
HP:0034391	Elbow contracture	57211	ADGRG6	OMIM:616503
HP:0034392	Joint contracture	64093	SMOC1	OMIM:206920
HP:0034392	Joint contracture	64093	SMOC1	ORPHA:1106
HP:0034392	Joint contracture	3868	KRT16	ORPHA:2199
HP:0034392	Joint contracture	3857	KRT9	ORPHA:2199
HP:0034392	Joint contracture	57863	CADM3	OMIM:619519
HP:0034392	Joint contracture	64374	SIL1	OMIM:248800
HP:0034392	Joint contracture	3763	KCNJ6	ORPHA:435628
HP:0034392	Joint contracture	3763	KCNJ6	OMIM:614098
HP:0034392	Joint contracture	9131	AIFM1	OMIM:300232
HP:0034392	Joint contracture	8506	CNTNAP1	OMIM:618186
HP:0034392	Joint contracture	5393	EXOSC9	OMIM:618065
HP:0034392	Joint contracture	55823	VPS11	OMIM:616683
HP:0034392	Joint contracture	3691	ITGB4	ORPHA:158684
HP:0034392	Joint contracture	2895	GRID2	OMIM:616204
HP:0034392	Joint contracture	1161	ERCC8	ORPHA:90324
HP:0034392	Joint contracture	1161	ERCC8	ORPHA:90322
HP:0034392	Joint contracture	2074	ERCC6	ORPHA:90324
HP:0034392	Joint contracture	2074	ERCC6	ORPHA:90322
HP:0034392	Joint contracture	2074	ERCC6	OMIM:214150
HP:0034392	Joint contracture	775	CACNA1C	OMIM:620029
HP:0034392	Joint contracture	825	CAPN3	OMIM:253600
HP:0034392	Joint contracture	825	CAPN3	ORPHA:267
HP:0034392	Joint contracture	4047	LSS	ORPHA:2850
HP:0034392	Joint contracture	197	AHSG	ORPHA:2850
HP:0034392	Joint contracture	3694	ITGB6	ORPHA:2850
HP:0034392	Joint contracture	5352	PLOD2	OMIM:609220
HP:0034392	Joint contracture	64324	NSD1	ORPHA:821
HP:0034392	Joint contracture	29072	SETD2	ORPHA:821
HP:0034392	Joint contracture	10297	APC2	ORPHA:821
HP:0034392	Joint contracture	2067	ERCC1	ORPHA:90322
HP:0034392	Joint contracture	5447	POR	ORPHA:95699
HP:0034392	Joint contracture	5447	POR	OMIM:207410
HP:0034392	Joint contracture	4072	EPCAM	ORPHA:144
HP:0034392	Joint contracture	4292	MLH1	ORPHA:144
HP:0034392	Joint contracture	5395	PMS2	ORPHA:144
HP:0034392	Joint contracture	27030	MLH3	ORPHA:144
HP:0034392	Joint contracture	22909	FAN1	ORPHA:144
HP:0034392	Joint contracture	7048	TGFBR2	ORPHA:144
HP:0034392	Joint contracture	3845	KRAS	ORPHA:144
HP:0034392	Joint contracture	5290	PIK3CA	ORPHA:144
HP:0034392	Joint contracture	2956	MSH6	ORPHA:144
HP:0034392	Joint contracture	5378	PMS1	ORPHA:144
HP:0034392	Joint contracture	4436	MSH2	ORPHA:144
HP:0034392	Joint contracture	4312	MMP1	ORPHA:79408
HP:0034392	Joint contracture	4312	MMP1	OMIM:226600
HP:0034392	Joint contracture	1294	COL7A1	ORPHA:79408
HP:0034392	Joint contracture	1294	COL7A1	OMIM:226600
HP:0034392	Joint contracture	1294	COL7A1	ORPHA:89842
HP:0034392	Joint contracture	10479	SLC9A6	OMIM:300243
HP:0034392	Joint contracture	6775	STAT4	ORPHA:85408
HP:0034392	Joint contracture	3560	IL2RB	ORPHA:85408
HP:0034392	Joint contracture	79722	ANKRD55	ORPHA:85408
HP:0034392	Joint contracture	26191	PTPN22	ORPHA:85408
HP:0034392	Joint contracture	919	CD247	ORPHA:85408
HP:0034392	Joint contracture	3559	IL2RA	ORPHA:85408
HP:0034392	Joint contracture	5771	PTPN2	ORPHA:85408
HP:0034392	Joint contracture	8443	GNPAT	OMIM:222765
HP:0034392	Joint contracture	7169	TPM2	ORPHA:171436
HP:0034392	Joint contracture	7169	TPM2	ORPHA:2020
HP:0034392	Joint contracture	7169	TPM2	ORPHA:171439
HP:0034392	Joint contracture	7169	TPM2	OMIM:609285
HP:0034392	Joint contracture	4703	NEB	ORPHA:171436
HP:0034392	Joint contracture	4703	NEB	ORPHA:171433
HP:0034392	Joint contracture	4703	NEB	ORPHA:171430
HP:0034392	Joint contracture	4703	NEB	ORPHA:171439
HP:0034392	Joint contracture	4703	NEB	OMIM:256030
HP:0034392	Joint contracture	10324	KLHL41	ORPHA:171436
HP:0034392	Joint contracture	10324	KLHL41	ORPHA:171433
HP:0034392	Joint contracture	10324	KLHL41	ORPHA:171430
HP:0034392	Joint contracture	10324	KLHL41	ORPHA:171439
HP:0034392	Joint contracture	56203	LMOD3	ORPHA:171436
HP:0034392	Joint contracture	56203	LMOD3	ORPHA:171430
HP:0034392	Joint contracture	56203	LMOD3	OMIM:616165
HP:0034392	Joint contracture	1073	CFL2	ORPHA:171436
HP:0034392	Joint contracture	54968	TMEM70	ORPHA:1194
HP:0034392	Joint contracture	3020	H3-3A	OMIM:619720
HP:0034392	Joint contracture	7170	TPM3	ORPHA:171433
HP:0034392	Joint contracture	7170	TPM3	ORPHA:2020
HP:0034392	Joint contracture	7170	TPM3	ORPHA:171439
HP:0034392	Joint contracture	7170	TPM3	OMIM:609284
HP:0034392	Joint contracture	6536	SLC6A9	OMIM:617301
HP:0034392	Joint contracture	131377	KLHL40	ORPHA:171430
HP:0034392	Joint contracture	131377	KLHL40	OMIM:615348
HP:0034392	Joint contracture	1785	DNM2	OMIM:615368
HP:0034392	Joint contracture	1785	DNM2	OMIM:160150
HP:0034392	Joint contracture	64218	SEMA4A	ORPHA:440437
HP:0034392	Joint contracture	657	BMPR1A	ORPHA:440437
HP:0034392	Joint contracture	6224	RPS20	ORPHA:440437
HP:0034392	Joint contracture	65082	VPS33A	OMIM:617303
HP:0034392	Joint contracture	65082	VPS33A	ORPHA:505248
HP:0034392	Joint contracture	25914	RTTN	OMIM:614833
HP:0034392	Joint contracture	84197	POMK	OMIM:615249
HP:0034392	Joint contracture	128486	FITM2	OMIM:618635
HP:0034392	Joint contracture	23431	AP4E1	OMIM:613744
HP:0034392	Joint contracture	3908	LAMA2	ORPHA:258
HP:0034392	Joint contracture	3908	LAMA2	OMIM:607855
HP:0034392	Joint contracture	29925	GMPPB	ORPHA:353327
HP:0034392	Joint contracture	2673	GFPT1	ORPHA:353327
HP:0034392	Joint contracture	1798	DPAGT1	ORPHA:353327
HP:0034392	Joint contracture	1798	DPAGT1	ORPHA:86309
HP:0034392	Joint contracture	1798	DPAGT1	OMIM:608093
HP:0034392	Joint contracture	85365	ALG2	ORPHA:353327
HP:0034392	Joint contracture	199857	ALG14	ORPHA:353327
HP:0034392	Joint contracture	6595	SMARCA2	OMIM:619293
HP:0034392	Joint contracture	54332	GDAP1	OMIM:607706
HP:0034392	Joint contracture	54332	GDAP1	ORPHA:101097
HP:0034392	Joint contracture	1146	CHRNG	OMIM:265000
HP:0034392	Joint contracture	1146	CHRNG	OMIM:253290
HP:0034392	Joint contracture	23250	ATP11A	OMIM:619851
HP:0034392	Joint contracture	7345	UCHL1	OMIM:615491
HP:0034392	Joint contracture	274	BIN1	OMIM:255200
HP:0034392	Joint contracture	9469	CHST3	OMIM:143095
HP:0034392	Joint contracture	9469	CHST3	ORPHA:263463
HP:0034392	Joint contracture	50814	NSDHL	OMIM:308050
HP:0034392	Joint contracture	1889	ECE1	OMIM:613870
HP:0034392	Joint contracture	3423	IDS	ORPHA:217085
HP:0034392	Joint contracture	3423	IDS	OMIM:309900
HP:0034392	Joint contracture	3423	IDS	ORPHA:217093
HP:0034392	Joint contracture	9326	ZNHIT3	ORPHA:2836
HP:0034392	Joint contracture	547	KIF1A	ORPHA:2836
HP:0034392	Joint contracture	547	KIF1A	OMIM:614255
HP:0034392	Joint contracture	55157	DARS2	ORPHA:137898
HP:0034392	Joint contracture	55157	DARS2	OMIM:611105
HP:0034392	Joint contracture	4604	MYBPC1	OMIM:618524
HP:0034392	Joint contracture	4604	MYBPC1	OMIM:614915
HP:0034392	Joint contracture	8560	DEGS1	OMIM:618404
HP:0034392	Joint contracture	8398	PLA2G6	ORPHA:35069
HP:0034392	Joint contracture	546	ATRX	ORPHA:847
HP:0034392	Joint contracture	5191	PEX7	OMIM:215100
HP:0034392	Joint contracture	3339	HSPG2	ORPHA:1865
HP:0034392	Joint contracture	3848	KRT1	ORPHA:79503
HP:0034392	Joint contracture	56984	PSMG2	OMIM:619183
HP:0034392	Joint contracture	9839	ZEB2	ORPHA:261552
HP:0034392	Joint contracture	9839	ZEB2	ORPHA:261537
HP:0034392	Joint contracture	8726	EED	OMIM:617561
HP:0034392	Joint contracture	57190	SELENON	ORPHA:2020
HP:0034392	Joint contracture	57190	SELENON	OMIM:602771
HP:0034392	Joint contracture	4633	MYL2	ORPHA:2020
HP:0034392	Joint contracture	3679	ITGA7	ORPHA:2020
HP:0034392	Joint contracture	9200	HACD1	ORPHA:2020
HP:0034392	Joint contracture	51776	MAP3K20	ORPHA:2020
HP:0034392	Joint contracture	22872	SEC31A	OMIM:618651
HP:0034392	Joint contracture	833	CARS1	OMIM:618891
HP:0034392	Joint contracture	84314	TMEM107	OMIM:617562
HP:0034392	Joint contracture	10682	EBP	ORPHA:35173
HP:0034392	Joint contracture	1641	DCX	ORPHA:2148
HP:0034392	Joint contracture	28514	DLL1	ORPHA:93926
HP:0034392	Joint contracture	28514	DLL1	ORPHA:93924
HP:0034392	Joint contracture	28514	DLL1	ORPHA:93925
HP:0034392	Joint contracture	28514	DLL1	ORPHA:220386
HP:0034392	Joint contracture	2253	FGF8	ORPHA:93926
HP:0034392	Joint contracture	2253	FGF8	ORPHA:93924
HP:0034392	Joint contracture	2253	FGF8	ORPHA:93925
HP:0034392	Joint contracture	2253	FGF8	ORPHA:220386
HP:0034392	Joint contracture	6496	SIX3	ORPHA:93926
HP:0034392	Joint contracture	6496	SIX3	ORPHA:93924
HP:0034392	Joint contracture	6496	SIX3	ORPHA:93925
HP:0034392	Joint contracture	6496	SIX3	ORPHA:220386
HP:0034392	Joint contracture	7050	TGIF1	ORPHA:93926
HP:0034392	Joint contracture	7050	TGIF1	ORPHA:93924
HP:0034392	Joint contracture	7050	TGIF1	ORPHA:93925
HP:0034392	Joint contracture	7050	TGIF1	ORPHA:220386
HP:0034392	Joint contracture	4838	NODAL	ORPHA:93926
HP:0034392	Joint contracture	4838	NODAL	ORPHA:93924
HP:0034392	Joint contracture	4838	NODAL	ORPHA:93925
HP:0034392	Joint contracture	4838	NODAL	ORPHA:220386
HP:0034392	Joint contracture	6469	SHH	ORPHA:93926
HP:0034392	Joint contracture	6469	SHH	ORPHA:93924
HP:0034392	Joint contracture	6469	SHH	ORPHA:93925
HP:0034392	Joint contracture	6469	SHH	ORPHA:220386
HP:0034392	Joint contracture	7546	ZIC2	ORPHA:93926
HP:0034392	Joint contracture	7546	ZIC2	ORPHA:93924
HP:0034392	Joint contracture	7546	ZIC2	ORPHA:93925
HP:0034392	Joint contracture	7546	ZIC2	ORPHA:220386
HP:0034392	Joint contracture	6491	STIL	ORPHA:93926
HP:0034392	Joint contracture	6491	STIL	ORPHA:93924
HP:0034392	Joint contracture	6491	STIL	ORPHA:93925
HP:0034392	Joint contracture	6491	STIL	ORPHA:220386
HP:0034392	Joint contracture	2619	GAS1	ORPHA:93926
HP:0034392	Joint contracture	2619	GAS1	ORPHA:93924
HP:0034392	Joint contracture	2619	GAS1	ORPHA:93925
HP:0034392	Joint contracture	2619	GAS1	ORPHA:220386
HP:0034392	Joint contracture	84976	DISP1	ORPHA:93926
HP:0034392	Joint contracture	84976	DISP1	ORPHA:93924
HP:0034392	Joint contracture	84976	DISP1	ORPHA:93925
HP:0034392	Joint contracture	84976	DISP1	ORPHA:220386
HP:0034392	Joint contracture	2736	GLI2	ORPHA:93926
HP:0034392	Joint contracture	2736	GLI2	ORPHA:93924
HP:0034392	Joint contracture	2736	GLI2	ORPHA:93925
HP:0034392	Joint contracture	2736	GLI2	ORPHA:220386
HP:0034392	Joint contracture	8928	FOXH1	ORPHA:93926
HP:0034392	Joint contracture	8928	FOXH1	ORPHA:93924
HP:0034392	Joint contracture	8928	FOXH1	ORPHA:93925
HP:0034392	Joint contracture	8928	FOXH1	ORPHA:220386
HP:0034392	Joint contracture	5727	PTCH1	ORPHA:93926
HP:0034392	Joint contracture	5727	PTCH1	ORPHA:93924
HP:0034392	Joint contracture	5727	PTCH1	ORPHA:93925
HP:0034392	Joint contracture	5727	PTCH1	ORPHA:220386
HP:0034392	Joint contracture	50937	CDON	ORPHA:93926
HP:0034392	Joint contracture	50937	CDON	ORPHA:93924
HP:0034392	Joint contracture	50937	CDON	ORPHA:93925
HP:0034392	Joint contracture	50937	CDON	ORPHA:220386
HP:0034392	Joint contracture	2783	GNB2	OMIM:619503
HP:0034392	Joint contracture	4632	MYL1	OMIM:618414
HP:0034392	Joint contracture	2260	FGFR1	ORPHA:93924
HP:0034392	Joint contracture	2260	FGFR1	ORPHA:220386
HP:0034392	Joint contracture	2752	GLUL	OMIM:610015
HP:0034392	Joint contracture	23007	PLCH1	ORPHA:93925
HP:0034392	Joint contracture	10735	STAG2	ORPHA:93925
HP:0034392	Joint contracture	10735	STAG2	ORPHA:220386
HP:0034392	Joint contracture	3782	KCNN3	OMIM:618658
HP:0034392	Joint contracture	3425	IDUA	OMIM:607014
HP:0034392	Joint contracture	5373	PMM2	OMIM:212065
HP:0034392	Joint contracture	11285	B4GALT7	OMIM:130070
HP:0034392	Joint contracture	11285	B4GALT7	ORPHA:75496
HP:0034392	Joint contracture	10717	AP4B1	OMIM:614066
HP:0034392	Joint contracture	149371	EXOC8	OMIM:619076
HP:0034392	Joint contracture	11154	AP4S1	OMIM:614067
HP:0034392	Joint contracture	2629	GBA1	ORPHA:85212
HP:0034392	Joint contracture	2629	GBA1	ORPHA:77260
HP:0034392	Joint contracture	51633	OTUD6B	OMIM:617452
HP:0034392	Joint contracture	55699	IARS2	OMIM:616007
HP:0034392	Joint contracture	9289	ADGRG1	ORPHA:98889
HP:0034392	Joint contracture	5297	PI4KA	ORPHA:98889
HP:0034392	Joint contracture	27286	SRPX2	ORPHA:98889
HP:0034392	Joint contracture	11128	POLR3A	OMIM:264090
HP:0034392	Joint contracture	64837	KLC2	OMIM:609541
HP:0034392	Joint contracture	26137	ZBTB20	OMIM:259050
HP:0034392	Joint contracture	26137	ZBTB20	ORPHA:3042
HP:0034392	Joint contracture	64419	MTMR14	OMIM:160150
HP:0034392	Joint contracture	57152	SLURP1	ORPHA:87503
HP:0034392	Joint contracture	27086	FOXP1	ORPHA:391372
HP:0034392	Joint contracture	773	CACNA1A	OMIM:617106
HP:0034392	Joint contracture	163175	LGI4	OMIM:617468
HP:0034392	Joint contracture	6506	SLC1A2	OMIM:617105
HP:0034392	Joint contracture	388015	RTL1	ORPHA:96334
HP:0034392	Joint contracture	388015	RTL1	ORPHA:254528
HP:0034392	Joint contracture	8788	DLK1	ORPHA:96334
HP:0034392	Joint contracture	8788	DLK1	ORPHA:254528
HP:0034392	Joint contracture	55384	MEG3	ORPHA:96334
HP:0034392	Joint contracture	55384	MEG3	ORPHA:254528
HP:0034392	Joint contracture	51085	MLXIPL	OMIM:194050
HP:0034392	Joint contracture	2006	ELN	OMIM:194050
HP:0034392	Joint contracture	487	ATP2A1	OMIM:601003
HP:0034392	Joint contracture	427	ASAH1	ORPHA:2590
HP:0034392	Joint contracture	427	ASAH1	ORPHA:333
HP:0034392	Joint contracture	4677	NARS1	OMIM:619091
HP:0034392	Joint contracture	8242	KDM5C	OMIM:300534
HP:0034392	Joint contracture	22906	TRAK1	OMIM:618201
HP:0034392	Joint contracture	55612	FERMT1	ORPHA:2908
HP:0034392	Joint contracture	6843	VAMP1	OMIM:618323
HP:0034392	Joint contracture	81031	SLC2A10	OMIM:208050
HP:0034392	Joint contracture	5692	PSMB4	OMIM:617591
HP:0034392	Joint contracture	5698	PSMB9	OMIM:617591
HP:0034392	Joint contracture	3977	LIFR	ORPHA:3206
HP:0034392	Joint contracture	51227	PIGP	OMIM:617599
HP:0034392	Joint contracture	55275	VPS53	OMIM:615851
HP:0034392	Joint contracture	84665	MYPN	ORPHA:171439
HP:0034392	Joint contracture	390594	KBTBD13	ORPHA:171439
HP:0034392	Joint contracture	55681	SCYL2	ORPHA:1143
HP:0034392	Joint contracture	84570	COL25A1	ORPHA:1143
HP:0034392	Joint contracture	57222	ERGIC1	ORPHA:1143
HP:0034392	Joint contracture	10195	ALG3	OMIM:601110
HP:0034392	Joint contracture	6567	SLC16A2	ORPHA:59
HP:0034392	Joint contracture	6567	SLC16A2	OMIM:300523
HP:0034392	Joint contracture	91252	SLC39A13	ORPHA:157965
HP:0034392	Joint contracture	171023	ASXL1	OMIM:605039
HP:0034392	Joint contracture	1387	CREBBP	OMIM:618332
HP:0034392	Joint contracture	1387	CREBBP	OMIM:180849
HP:0034392	Joint contracture	81570	CLPB	OMIM:616271
HP:0034392	Joint contracture	54101	RIPK4	OMIM:263650
HP:0034392	Joint contracture	667	DST	OMIM:614653
HP:0034392	Joint contracture	3329	HSPD1	OMIM:612233
HP:0034392	Joint contracture	1144	CHRND	OMIM:253290
HP:0034392	Joint contracture	1134	CHRNA1	OMIM:253290
HP:0034392	Joint contracture	284119	CAVIN1	OMIM:613327
HP:0034392	Joint contracture	55770	EXOC2	OMIM:619306
HP:0034392	Joint contracture	5277	PIGA	OMIM:301072
HP:0034392	Joint contracture	5277	PIGA	OMIM:300868
HP:0034392	Joint contracture	8905	AP1S2	OMIM:304340
HP:0034392	Joint contracture	9927	MFN2	ORPHA:99947
HP:0034392	Joint contracture	9927	MFN2	OMIM:609260
HP:0034392	Joint contracture	4001	LMNB1	ORPHA:99027
HP:0034392	Joint contracture	389827	MYMK	OMIM:254940
HP:0034392	Joint contracture	23592	LEMD3	OMIM:166700
HP:0034392	Joint contracture	23592	LEMD3	ORPHA:1306
HP:0034392	Joint contracture	56052	ALG1	OMIM:608540
HP:0034392	Joint contracture	2201	FBN2	ORPHA:115
HP:0034392	Joint contracture	10075	HUWE1	OMIM:309590
HP:0034392	Joint contracture	7051	TGM1	OMIM:242300
HP:0034392	Joint contracture	9663	LPIN2	OMIM:609628
HP:0034392	Joint contracture	9663	LPIN2	ORPHA:77297
HP:0034392	Joint contracture	84706	GPT2	OMIM:616281
HP:0034392	Joint contracture	23111	SPART	OMIM:275900
HP:0034392	Joint contracture	10785	WDR4	OMIM:618346
HP:0034392	Joint contracture	112	ADCY6	OMIM:616287
HP:0034392	Joint contracture	579	NKX3-2	OMIM:613330
HP:0034392	Joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0034392	Joint contracture	4621	MYH3	OMIM:618469
HP:0034392	Joint contracture	9526	MPDU1	OMIM:609180
HP:0034392	Joint contracture	203547	VMA21	OMIM:310440
HP:0034392	Joint contracture	4747	NEFL	OMIM:607684
HP:0034392	Joint contracture	2200	FBN1	ORPHA:284979
HP:0034392	Joint contracture	2200	FBN1	OMIM:154700
HP:0034392	Joint contracture	256297	PTF1A	OMIM:609069
HP:0034392	Joint contracture	411	ARSB	OMIM:253200
HP:0034392	Joint contracture	10049	DNAJB6	OMIM:603511
HP:0034392	Joint contracture	11160	ERLIN2	ORPHA:209951
HP:0034392	Joint contracture	1302	COL11A2	OMIM:215150
HP:0034392	Joint contracture	59341	TRPV4	OMIM:156530
HP:0034392	Joint contracture	59341	TRPV4	OMIM:168400
HP:0034392	Joint contracture	79868	ALG13	OMIM:300884
HP:0034392	Joint contracture	6651	SON	OMIM:617140
HP:0034392	Joint contracture	63895	PIEZO2	OMIM:617146
HP:0034392	Joint contracture	8882	ZPR1	OMIM:619321
HP:0034392	Joint contracture	10229	COQ7	OMIM:616733
HP:0034392	Joint contracture	1836	SLC26A2	ORPHA:93307
HP:0034392	Joint contracture	2263	FGFR2	OMIM:207410
HP:0034392	Joint contracture	112939	NACC1	ORPHA:500545
HP:0034392	Joint contracture	29078	NDUFAF4	OMIM:618237
HP:0034392	Joint contracture	5831	PYCR1	OMIM:614438
HP:0034392	Joint contracture	5010	CLDN11	OMIM:619328
HP:0034392	Joint contracture	51010	EXOSC3	OMIM:614678
HP:0034392	Joint contracture	23729	SHPK	ORPHA:440713
HP:0034392	Joint contracture	10651	MTX2	ORPHA:90153
HP:0034392	Joint contracture	10651	MTX2	OMIM:619127
HP:0034392	Joint contracture	4204	MECP2	OMIM:300055
HP:0034392	Joint contracture	3039	HBA1	ORPHA:98791
HP:0034392	Joint contracture	3040	HBA2	ORPHA:98791
HP:0034392	Joint contracture	10940	POP1	OMIM:617396
HP:0034392	Joint contracture	4998	ORC1	OMIM:224690
HP:0034392	Joint contracture	11253	MAN1B1	OMIM:614202
HP:0034392	Joint contracture	2316	FLNA	ORPHA:88630
HP:0034392	Joint contracture	2072	ERCC4	OMIM:278760
HP:0034392	Joint contracture	6331	SCN5A	ORPHA:1344
HP:0034392	Joint contracture	4878	NPPA	ORPHA:1344
HP:0034392	Joint contracture	1280	COL2A1	OMIM:609162
HP:0034392	Joint contracture	54551	MAGEL2	ORPHA:398069
HP:0034392	Joint contracture	54551	MAGEL2	OMIM:615547
HP:0034392	Joint contracture	64856	VWA1	OMIM:619216
HP:0034392	Joint contracture	7965	AIMP2	OMIM:618006
HP:0034392	Joint contracture	91137	SLC25A46	OMIM:616505
HP:0034392	Joint contracture	51008	ASCC1	OMIM:616867
HP:0034392	Joint contracture	57211	ADGRG6	OMIM:616503
HP:0034392	Joint contracture	29920	PYCR2	ORPHA:481152
HP:0034392	Joint contracture	9325	TRIP4	OMIM:616866
HP:0034392	Joint contracture	9361	LONP1	ORPHA:79243
HP:0034392	Joint contracture	5160	PDHA1	ORPHA:79243
HP:0034392	Joint contracture	91647	ATPAF2	OMIM:604273
HP:0034392	Joint contracture	6329	SCN4A	ORPHA:682
HP:0034392	Joint contracture	2068	ERCC2	OMIM:601675
HP:0034392	Joint contracture	6390	SDHB	OMIM:619224
HP:0034392	Joint contracture	11342	RNF13	OMIM:618379
HP:0034392	Joint contracture	11342	RNF13	ORPHA:544503
HP:0034392	Joint contracture	7317	UBA1	OMIM:301830
HP:0034392	Joint contracture	8802	SUCLG1	ORPHA:17
HP:0034392	Joint contracture	79796	ALG9	OMIM:263210
HP:0034392	Joint contracture	84896	ATAD1	OMIM:618011
HP:0034392	Joint contracture	128637	TBC1D20	OMIM:615663
HP:0034392	Joint contracture	25939	SAMHD1	OMIM:612952
HP:0034392	Joint contracture	8425	LTBP4	ORPHA:98896
HP:0034392	Joint contracture	8200	GDF5	OMIM:200700
HP:0034392	Joint contracture	10269	ZMPSTE24	OMIM:608612
HP:0034392	Joint contracture	10269	ZMPSTE24	OMIM:275210
HP:0034392	Joint contracture	7874	USP7	ORPHA:500055
HP:0034392	Joint contracture	5913	RAPSN	OMIM:618388
HP:0034392	Joint contracture	9851	KIAA0753	OMIM:619479
HP:0034392	Joint contracture	35	ACADS	OMIM:201470
HP:0034392	Joint contracture	2033	EP300	OMIM:180849
HP:0034392	Joint contracture	2517	FUCA1	OMIM:230000
HP:0034392	Joint contracture	25782	RAB3GAP2	OMIM:614225
HP:0034392	Joint contracture	1861	TOR1A	OMIM:618947
HP:0034392	Joint contracture	22931	RAB18	OMIM:614222
HP:0034392	Joint contracture	998	CDC42	ORPHA:487796
HP:0034392	Joint contracture	9968	MED12	OMIM:309520
HP:0034392	Joint contracture	4534	MTM1	OMIM:310400
HP:0034392	Joint contracture	54880	BCOR	OMIM:300166
HP:0034392	Joint contracture	2571	GAD1	OMIM:619124
HP:0034392	Joint contracture	162514	TRPV3	OMIM:614594
HP:0034392	Joint contracture	84340	GFM2	OMIM:618397
HP:0034392	Joint contracture	202018	TAPT1	OMIM:616897
HP:0034392	Joint contracture	60386	SLC25A19	OMIM:607196
HP:0034392	Joint contracture	126792	B3GALT6	OMIM:271640
HP:0034392	Joint contracture	342035	GLDN	OMIM:617194
HP:0034392	Joint contracture	2176	FANCC	OMIM:227645
HP:0034392	Joint contracture	5538	PPT1	OMIM:256730
HP:0034392	Joint contracture	29954	POMT2	OMIM:613156
HP:0034392	Joint contracture	2990	GUSB	OMIM:253220
HP:0034392	Joint contracture	8243	SMC1A	ORPHA:220386
HP:0034392	Joint contracture	8815	BANF1	OMIM:614008
HP:0034392	Joint contracture	84700	MYO18B	OMIM:616549
HP:0034392	Joint contracture	6261	RYR1	ORPHA:98905
HP:0034392	Joint contracture	5354	PLP1	OMIM:312920
HP:0034392	Joint contracture	84081	NSRP1	OMIM:620001
HP:0034392	Joint contracture	6389	SDHA	OMIM:252011
HP:0034392	Joint contracture	23529	CLCF1	ORPHA:1545
HP:0034392	Joint contracture	9244	CRLF1	ORPHA:1545
HP:0034392	Joint contracture	2801	GOLGA2	OMIM:620240
HP:0034392	Joint contracture	224	ALDH3A2	OMIM:270200
HP:0034392	Joint contracture	129285	PPP1R21	OMIM:619383
HP:0034392	Joint contracture	84842	HPDL	OMIM:619026
HP:0034392	Joint contracture	118429	ANTXR2	OMIM:228600
HP:0034392	Joint contracture	22978	NT5C2	OMIM:613162
HP:0034392	Joint contracture	221692	PHACTR1	OMIM:618298
HP:0034392	Joint contracture	1140	CHRNB1	OMIM:616313
HP:0034392	Joint contracture	1235	CCR6	ORPHA:220393
HP:0034392	Joint contracture	1490	CCN2	ORPHA:220393
HP:0034392	Joint contracture	3663	IRF5	ORPHA:220393
HP:0034392	Joint contracture	857	CAV1	ORPHA:220393
HP:0034392	Joint contracture	3123	HLA-DRB1	ORPHA:220393
HP:0034392	Joint contracture	3767	KCNJ11	OMIM:618856
HP:0034392	Joint contracture	170302	ARX	OMIM:309510
HP:0034392	Joint contracture	5696	PSMB8	OMIM:256040
HP:0034392	Joint contracture	246329	STAC3	OMIM:255995
HP:0034392	Joint contracture	6786	STIM1	OMIM:160565
HP:0034392	Joint contracture	203859	ANO5	ORPHA:206549
HP:0034392	Joint contracture	6445	SGCG	ORPHA:353
HP:0034392	Joint contracture	23299	BICD2	OMIM:615290
HP:0034392	Joint contracture	55906	ZC4H2	OMIM:301041
HP:0034392	Joint contracture	2273	FHL1	OMIM:300696
HP:0034392	Joint contracture	2273	FHL1	OMIM:300695
HP:0034392	Joint contracture	2273	FHL1	ORPHA:98863
HP:0034392	Joint contracture	7273	TTN	OMIM:603689
HP:0034392	Joint contracture	79147	FKRP	OMIM:606612
HP:0034392	Joint contracture	79147	FKRP	ORPHA:370980
HP:0034392	Joint contracture	79147	FKRP	OMIM:607155
HP:0034392	Joint contracture	51651	PTRH2	OMIM:616263
HP:0034392	Joint contracture	51651	PTRH2	ORPHA:456312
HP:0034392	Joint contracture	54888	NSUN2	OMIM:611091
HP:0034392	Joint contracture	3094	HINT1	ORPHA:324442
HP:0034392	Joint contracture	339855	KY	OMIM:617114
HP:0034392	Joint contracture	23516	SLC39A14	OMIM:617013
HP:0034392	Joint contracture	4010	LMX1B	ORPHA:2614
HP:0034392	Joint contracture	79912	PYROXD1	OMIM:617258
HP:0034392	Joint contracture	1756	DMD	OMIM:310200
HP:0034392	Joint contracture	291	SLC25A4	OMIM:615418
HP:0034392	Joint contracture	2010	EMD	OMIM:310300
HP:0034392	Joint contracture	2010	EMD	ORPHA:98863
HP:0034392	Joint contracture	57679	ALS2	OMIM:607225
HP:0034392	Joint contracture	6442	SGCA	ORPHA:62
HP:0034392	Joint contracture	4556	MT-TE	ORPHA:2596
HP:0034392	Joint contracture	9990	SLC12A6	OMIM:620068
HP:0034392	Joint contracture	1292	COL6A2	OMIM:255600
HP:0034392	Joint contracture	1292	COL6A2	ORPHA:610
HP:0034392	Joint contracture	9499	MYOT	OMIM:609200
HP:0034392	Joint contracture	10060	ABCC9	OMIM:619719
HP:0034392	Joint contracture	4000	LMNA	OMIM:181350
HP:0034392	Joint contracture	4000	LMNA	OMIM:613205
HP:0034392	Joint contracture	4000	LMNA	ORPHA:98855
HP:0034392	Joint contracture	4000	LMNA	ORPHA:98853
HP:0034392	Joint contracture	5339	PLEC	ORPHA:254361
HP:0034392	Joint contracture	3714	JAG2	OMIM:619566
HP:0034392	Joint contracture	113179	ADAT3	ORPHA:363528
HP:0034392	Joint contracture	51506	UFC1	OMIM:618076
HP:0034392	Joint contracture	2705	GJB1	OMIM:302800
HP:0034392	Joint contracture	58	ACTA1	OMIM:616852
HP:0034392	Joint contracture	26090	ABHD12	OMIM:612674
HP:0034392	Joint contracture	2218	FKTN	ORPHA:370980
HP:0034392	Joint contracture	729920	CRPPA	ORPHA:370980
HP:0034392	Joint contracture	10585	POMT1	ORPHA:370980
HP:0034392	Joint contracture	3265	HRAS	OMIM:218040
HP:0034392	Joint contracture	55768	NGLY1	ORPHA:404454
HP:0034392	Joint contracture	2799	GNS	OMIM:252940
HP:0034392	Joint contracture	4976	OPA1	OMIM:210000
HP:0034392	Joint contracture	9215	LARGE1	OMIM:608840
HP:0034392	Joint contracture	1303	COL12A1	ORPHA:610
HP:0034392	Joint contracture	1291	COL6A1	ORPHA:610
HP:0034392	Joint contracture	1293	COL6A3	ORPHA:610
HP:0034392	Joint contracture	79188	TMEM43	ORPHA:98853
HP:0034392	Joint contracture	23345	SYNE1	ORPHA:98853
HP:0034392	Joint contracture	23224	SYNE2	ORPHA:98853
HP:0034392	Joint contracture	1832	DSP	ORPHA:158687
HP:0034392	Joint contracture	3728	JUP	ORPHA:158687
HP:0034392	Joint contracture	84295	PHF6	ORPHA:127
HP:0034392	Joint contracture	777	CACNA1E	OMIM:618285
HP:0034392	Joint contracture	100128927	ZBTB42	OMIM:616248
HP:0034392	Joint contracture	283989	TSEN54	OMIM:277470
HP:0034392	Joint contracture	283989	TSEN54	OMIM:225753
HP:0034392	Joint contracture	4620	MYH2	OMIM:605637
HP:0034392	Joint contracture	9496	TBX4	ORPHA:261279
HP:0034392	Joint contracture	5081	PAX7	OMIM:618578
HP:0034392	Joint contracture	7443	VRK1	OMIM:607596
HP:0034392	Joint contracture	26153	KIF26A	OMIM:620156
HP:0034392	Joint contracture	1145	CHRNE	OMIM:608931
HP:0034392	Joint contracture	2632	GBE1	OMIM:232500
HP:0034392	Joint contracture	55627	SMPD4	OMIM:618622
HP:0034392	Joint contracture	55593	OTUD5	OMIM:301056
HP:0034392	Joint contracture	60482	SLC5A7	OMIM:617143
HP:0034392	Joint contracture	60482	SLC5A7	ORPHA:98914
HP:0034392	Joint contracture	2733	GLE1	OMIM:253310
HP:0034392	Joint contracture	2733	GLE1	OMIM:611890
HP:0034392	Joint contracture	56975	FAM20C	OMIM:259775
HP:0034392	Joint contracture	6904	TBCD	ORPHA:496641
HP:0034392	Joint contracture	6904	TBCD	OMIM:617193
HP:0034392	Joint contracture	5980	REV3L	ORPHA:570
HP:0034392	Joint contracture	23129	PLXND1	ORPHA:570
HP:0034392	Joint contracture	63925	ZNF335	OMIM:615095
HP:0034392	Joint contracture	1020	CDK5	OMIM:616342
HP:0034392	Joint contracture	5119	CHMP1A	OMIM:614961
HP:0034392	Joint contracture	91869	RFT1	ORPHA:244310
HP:0034392	Joint contracture	6663	SOX10	ORPHA:163746
HP:0034392	Joint contracture	6663	SOX10	OMIM:609136
HP:0034392	Joint contracture	26276	VPS33B	OMIM:208085
HP:0034392	Joint contracture	57498	KIDINS220	OMIM:619501
HP:0034392	Joint contracture	63894	VIPAS39	OMIM:613404
HP:0034392	Joint contracture	2065	ERBB3	OMIM:243180
HP:0034392	Joint contracture	2065	ERBB3	OMIM:607598
HP:0034392	Joint contracture	23265	EXOC7	OMIM:619072
HP:0034392	Joint contracture	1182	CLCN3	OMIM:619512
HP:0034392	Joint contracture	5530	PPP3CA	OMIM:618265
HP:0034392	Joint contracture	1103	CHAT	OMIM:254210
HP:0034392	Joint contracture	1103	CHAT	ORPHA:98914
HP:0034392	Joint contracture	23287	AGTPBP1	ORPHA:2254
HP:0034392	Joint contracture	55165	CEP55	OMIM:236500
HP:0034392	Joint contracture	3800	KIF5C	OMIM:615282
HP:0034392	Joint contracture	9928	KIF14	OMIM:616258
HP:0034392	Joint contracture	1305	COL13A1	ORPHA:98914
HP:0034392	Joint contracture	6576	SLC25A1	ORPHA:98914
HP:0034392	Joint contracture	375790	AGRN	ORPHA:98914
HP:0034392	Joint contracture	3911	LAMA5	OMIM:620076
HP:0034392	Joint contracture	9319	TRIP13	OMIM:617598
HP:0034392	Joint contracture	200205	IBA57	OMIM:615330
HP:0034392	Joint contracture	91574	MTRFR	ORPHA:320375
HP:0034392	Joint contracture	8216	LZTR1	OMIM:605275
HP:0034392	Joint contracture	4625	MYH7	ORPHA:324604
HP:0034392	Joint contracture	23769	FLRT1	ORPHA:320406
HP:0034392	Joint contracture	94005	PIGS	OMIM:618143
HP:0034392	Joint contracture	1763	DNA2	ORPHA:352470
HP:0034392	Joint contracture	23396	PIP5K1C	OMIM:611369
HP:0034392	Joint contracture	54820	NDE1	OMIM:605013
HP:0034392	Joint contracture	3417	IDH1	ORPHA:99646
HP:0034392	Joint contracture	5981	RFC1	ORPHA:504476
HP:0034392	Joint contracture	404672	GTF2H5	ORPHA:33364
HP:0034392	Joint contracture	7737	RNF113A	ORPHA:33364
HP:0034392	Joint contracture	136647	MPLKIP	ORPHA:33364
HP:0034392	Joint contracture	6897	TARS1	ORPHA:33364
HP:0034392	Joint contracture	2071	ERCC3	ORPHA:33364
HP:0034392	Joint contracture	2961	GTF2E2	ORPHA:33364
HP:0034392	Joint contracture	6509	SLC1A4	ORPHA:447997
HP:0034392	Joint contracture	10535	RNASEH2A	ORPHA:51
HP:0034392	Joint contracture	84153	RNASEH2C	ORPHA:51
HP:0034392	Joint contracture	79621	RNASEH2B	ORPHA:51
HP:0034392	Joint contracture	103	ADAR	ORPHA:51
HP:0034392	Joint contracture	11277	TREX1	ORPHA:51
HP:0034392	Joint contracture	100147744	RNU7-1	ORPHA:51
HP:0034392	Joint contracture	134353	LSM11	ORPHA:51
HP:0034392	Joint contracture	64135	IFIH1	ORPHA:51
HP:0034392	Joint contracture	2137	EXTL3	ORPHA:508533
HP:0034392	Joint contracture	83932	SPRTN	OMIM:616200
HP:0034392	Joint contracture	5351	PLOD1	ORPHA:1900
HP:0034392	Joint contracture	7020	TFAP2A	OMIM:113620
HP:0034392	Joint contracture	545	ATR	OMIM:210600
HP:0034392	Joint contracture	84065	TMEM222	OMIM:619470
HP:0034392	Joint contracture	3835	KIF22	ORPHA:93360
HP:0034392	Joint contracture	6628	SNRPB	OMIM:117650
HP:0034392	Joint contracture	340419	RSPO2	OMIM:618022
HP:0034392	Joint contracture	23233	EXOC6B	ORPHA:93359
HP:0034392	Joint contracture	5286	PIK3C2A	OMIM:618440
HP:0034392	Joint contracture	25836	NIPBL	OMIM:122470
HP:0034392	Joint contracture	7476	WNT7A	OMIM:276820
HP:0034392	Joint contracture	5832	ALDH18A1	ORPHA:447757
HP:0034392	Joint contracture	26229	B3GAT3	OMIM:245600
HP:0034392	Joint contracture	215	ABCD1	ORPHA:139396
HP:0034392	Joint contracture	29968	PSAT1	ORPHA:284417
HP:0034392	Joint contracture	51102	MECR	OMIM:617282
HP:0034392	Joint contracture	3074	HEXB	ORPHA:309162
HP:0034392	Joint contracture	2902	GRIN1	OMIM:619814
HP:0034392	Joint contracture	55131	RBM28	OMIM:612079
HP:0034392	Joint contracture	51091	SEPSECS	OMIM:613811
HP:0034392	Joint contracture	819	CAMLG	OMIM:620201
HP:0034392	Joint contracture	1308	COL17A1	ORPHA:251393
HP:0034392	Joint contracture	9653	HS2ST1	OMIM:619194
HP:0034392	Joint contracture	10290	SPEG	ORPHA:169186
HP:0034392	Joint contracture	10290	SPEG	OMIM:615959
HP:0034392	Joint contracture	9894	TELO2	ORPHA:488642
HP:0034392	Joint contracture	285175	UNC80	OMIM:616801
HP:0034392	Joint contracture	285175	UNC80	ORPHA:371364
HP:0034392	Joint contracture	84992	PIGY	OMIM:616809
HP:0034392	Joint contracture	2617	GARS1	OMIM:619042
HP:0034392	Joint contracture	60681	FKBP10	OMIM:259450
HP:0034392	Joint contracture	4773	NFATC2	OMIM:620232
HP:0034392	Joint contracture	87178	PNPT1	ORPHA:319514
HP:0034392	Joint contracture	79158	GNPTAB	ORPHA:576
HP:0034392	Joint contracture	5745	PTH1R	OMIM:156400
HP:0034392	Joint contracture	84068	SLC10A7	OMIM:618363
HP:0034392	Joint contracture	2157	F8	ORPHA:169805
HP:0034392	Joint contracture	7138	TNNT1	ORPHA:98902
HP:0034392	Joint contracture	7138	TNNT1	OMIM:605355
HP:0034392	Joint contracture	4313	MMP2	OMIM:259600
HP:0034392	Joint contracture	54681	P4HTM	OMIM:618493
HP:0034392	Joint contracture	6023	RMRP	OMIM:607095
HP:0034392	Joint contracture	23389	MED13L	ORPHA:369891
HP:0034392	Joint contracture	65055	REEP1	OMIM:620011
HP:0034392	Joint contracture	55628	ZNF407	OMIM:619557
HP:0034392	Joint contracture	23219	FBXO28	OMIM:619777
HP:0034392	Joint contracture	84265	POLR3GL	OMIM:619234
HP:0034392	Joint contracture	3798	KIF5A	ORPHA:100991
HP:0034392	Joint contracture	4626	MYH8	OMIM:158300
HP:0034392	Joint contracture	4626	MYH8	OMIM:608837
HP:0034392	Joint contracture	7528	YY1	ORPHA:506358
HP:0034392	Joint contracture	7528	YY1	OMIM:617557
HP:0034392	Joint contracture	34	ACADM	ORPHA:42
HP:0034392	Joint contracture	57003	CCDC47	OMIM:618268
HP:0034392	Joint contracture	4897	NRCAM	OMIM:619833
HP:0034392	Joint contracture	113189	CHST14	OMIM:601776
HP:0034392	Joint contracture	2521	FUS	ORPHA:300605
HP:0034392	Joint contracture	10558	SPTLC1	ORPHA:300605
HP:0034392	Joint contracture	80232	WDR26	ORPHA:513456
HP:0034392	Joint contracture	6774	STAT3	ORPHA:99885
HP:0034392	Joint contracture	2645	GCK	ORPHA:99885
HP:0034392	Joint contracture	3651	PDX1	ORPHA:99885
HP:0034392	Joint contracture	6833	ABCC8	ORPHA:99885
HP:0034392	Joint contracture	3630	INS	ORPHA:99885
HP:0034392	Joint contracture	9373	PLAA	ORPHA:521426
HP:0034392	Joint contracture	9373	PLAA	OMIM:617527
HP:0034392	Joint contracture	8818	DPM2	ORPHA:329178
HP:0034392	Joint contracture	1193	CLIC2	ORPHA:324410
HP:0034392	Joint contracture	5830	PEX5	OMIM:616716
HP:0034392	Joint contracture	23556	PIGN	ORPHA:280633
HP:0034392	Joint contracture	7043	TGFB3	OMIM:615582
HP:0034392	Joint contracture	1984	EIF5A	OMIM:619376
HP:0034392	Joint contracture	2643	GCH1	ORPHA:98808
HP:0034392	Joint contracture	4929	NR4A2	ORPHA:98808
HP:0034392	Joint contracture	3615	IMPDH2	ORPHA:98808
HP:0034392	Joint contracture	6857	SYT1	ORPHA:522077
HP:0034392	Joint contracture	23141	ANKLE2	OMIM:616681
HP:0034392	Joint contracture	91179	SCARF2	OMIM:600920
HP:0034392	Joint contracture	6616	SNAP25	OMIM:616330
HP:0034392	Joint contracture	23321	TRIM2	OMIM:615490
HP:0034392	Joint contracture	127833	SYT2	OMIM:619461
HP:0034392	Joint contracture	79644	SRD5A3	OMIM:612713
HP:0034392	Joint contracture	9531	BAG3	OMIM:612954
HP:0034392	Joint contracture	9051	PSTPIP1	OMIM:604416
HP:0034392	Joint contracture	10804	GJB6	ORPHA:477
HP:0034392	Joint contracture	2706	GJB2	ORPHA:477
HP:0034392	Joint contracture	2706	GJB2	OMIM:148210
HP:0034392	Joint contracture	9791	PTDSS1	OMIM:151050
HP:0034392	Joint contracture	157570	ESCO2	ORPHA:3103
HP:0034392	Joint contracture	157570	ESCO2	OMIM:268300
HP:0034392	Joint contracture	10613	ERLIN1	ORPHA:401785
HP:0034392	Joint contracture	2222	FDFT1	OMIM:618156
HP:0034392	Joint contracture	83636	C19orf12	OMIM:615043
HP:0034392	Joint contracture	1376	CPT2	OMIM:608836
HP:0034392	Joint contracture	5296	PIK3R2	OMIM:603387
HP:0034392	Joint contracture	23387	SIK3	OMIM:618162
HP:0034392	Joint contracture	6392	SDHD	ORPHA:3208
HP:0034392	Joint contracture	644096	SDHAF1	ORPHA:3208
HP:0034392	Joint contracture	64116	SLC39A8	ORPHA:468699
HP:0034392	Joint contracture	8449	DHX16	OMIM:618733
HP:0034392	Joint contracture	2737	GLI3	ORPHA:93322
HP:0034392	Joint contracture	1605	DAG1	OMIM:613818
HP:0034392	Joint contracture	1605	DAG1	ORPHA:280333
HP:0034392	Joint contracture	55958	KLHL9	ORPHA:399081
HP:0034392	Joint contracture	84876	ORAI1	OMIM:615883
HP:0034392	Joint contracture	210	ALAD	ORPHA:100924
HP:0034392	Joint contracture	513	ATP5F1D	OMIM:618120
HP:0034392	Joint contracture	80208	SPG11	OMIM:616668
HP:0034392	Joint contracture	57731	SPTBN4	OMIM:617519
HP:0034392	Joint contracture	497661	C18orf32	OMIM:619985
HP:0034392	Joint contracture	7407	VARS1	OMIM:617802
HP:0034392	Joint contracture	9896	FIG4	OMIM:611228
HP:0034392	Joint contracture	51305	KCNK9	ORPHA:166108
HP:0034392	Joint contracture	2972	BRF1	ORPHA:444072
HP:0034392	Joint contracture	23259	DDHD2	ORPHA:320380
HP:0034392	Joint contracture	54828	BCAS3	OMIM:619641
HP:0034392	Joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0034392	Joint contracture	5307	PITX1	OMIM:186550
HP:0034392	Joint contracture	10664	CTCF	ORPHA:363611
HP:0034392	Joint contracture	26053	AUTS2	ORPHA:352490
HP:0034392	Joint contracture	219854	TMEM218	OMIM:619562
HP:0034392	Joint contracture	23291	FBXW11	OMIM:618914
HP:0034392	Joint contracture	9757	KMT2B	OMIM:619934
HP:0034392	Joint contracture	3720	JARID2	OMIM:620098
HP:0034392	Joint contracture	10765	KDM5B	OMIM:618109
HP:0034392	Joint contracture	9487	PIGL	OMIM:280000
HP:0034392	Joint contracture	10093	ARPC4	OMIM:620141
HP:0034392	Joint contracture	25942	SIN3A	OMIM:613406
HP:0034392	Joint contracture	11011	TLK2	OMIM:618050
HP:0034392	Joint contracture	80816	ASXL3	OMIM:615485
HP:0034392	Joint contracture	81857	MED25	ORPHA:464738
HP:0034392	Joint contracture	6909	TBX2	OMIM:618223
HP:0034392	Joint contracture	1718	DHCR24	OMIM:602398
HP:0034392	Joint contracture	7390	UROS	OMIM:263700
HP:0034392	Joint contracture	57449	PLEKHG5	OMIM:611067
HP:0034392	Joint contracture	5376	PMP22	ORPHA:90658
HP:0034392	Joint contracture	1277	COL1A1	OMIM:130060
HP:0034392	Joint contracture	6134	RPL10	OMIM:300998
HP:0034392	Joint contracture	23327	NEDD4L	OMIM:617201
HP:0034392	Joint contracture	8985	PLOD3	OMIM:612394
HP:0034392	Joint contracture	6662	SOX9	OMIM:114290
HP:0034392	Joint contracture	4297	KMT2A	OMIM:605130
HP:0034392	Joint contracture	91754	NEK9	OMIM:614262
HP:0034392	Joint contracture	3008	H1-4	OMIM:617537
HP:0034392	Joint contracture	4649	MYO9A	OMIM:618198
HP:0034392	Joint contracture	9382	COG1	OMIM:611209
HP:0034392	Joint contracture	57231	SNX14	ORPHA:397709
HP:0034392	Joint contracture	57231	SNX14	OMIM:616354
HP:0034392	Joint contracture	7125	TNNC2	OMIM:620161
HP:0034392	Joint contracture	56992	KIF15	ORPHA:261323
HP:0034392	Joint contracture	57589	RIC1	OMIM:618761
HP:0034392	Joint contracture	80776	B9D2	OMIM:614175
HP:0034392	Joint contracture	1954	MEGF8	OMIM:614976
HP:0034392	Joint contracture	23314	SATB2	OMIM:612313
HP:0034392	Joint contracture	8642	DCHS1	OMIM:601390
HP:0034392	Joint contracture	8642	DCHS1	ORPHA:314679
HP:0034392	Joint contracture	79053	ALG8	OMIM:608104
HP:0034392	Joint contracture	79053	ALG8	ORPHA:79325
HP:0034392	Joint contracture	26227	PHGDH	OMIM:256520
HP:0034392	Joint contracture	57167	SALL4	ORPHA:233
HP:0034392	Joint contracture	1123	CHN1	ORPHA:233
HP:0034392	Joint contracture	3572	IL6ST	OMIM:619751
HP:0034392	Joint contracture	7862	BRPF1	OMIM:617333
HP:0034392	Joint contracture	1001	CDH3	OMIM:225280
HP:0034392	Joint contracture	5828	PEX2	OMIM:614866
HP:0034392	Joint contracture	79228	THOC6	ORPHA:363444
HP:0034392	Joint contracture	4094	MAF	ORPHA:1272
HP:0034392	Joint contracture	4094	MAF	OMIM:601088
HP:0034392	Joint contracture	4089	SMAD4	OMIM:139210
HP:0034392	Joint contracture	11107	PRDM5	ORPHA:90354
HP:0034392	Joint contracture	84627	ZNF469	ORPHA:90354
HP:0034392	Joint contracture	8626	TP63	OMIM:603543
HP:0034392	Joint contracture	8813	DPM1	OMIM:608799
HP:0034392	Joint contracture	8813	DPM1	ORPHA:79322
HP:0034392	Joint contracture	79087	ALG12	ORPHA:79324
HP:0034392	Joint contracture	26100	WIPI2	OMIM:618453
HP:0034392	Joint contracture	8621	CDK13	OMIM:617360
HP:0034392	Joint contracture	9427	ECEL1	OMIM:615065
HP:0034392	Joint contracture	2702	GJA5	OMIM:612474
HP:0034392	Joint contracture	2703	GJA8	OMIM:612474
HP:0034392	Joint contracture	1801	DPH1	ORPHA:459061
HP:0034392	Joint contracture	81848	SPRY4	ORPHA:432
HP:0034392	Joint contracture	128674	PROKR2	ORPHA:432
HP:0034392	Joint contracture	60675	PROK2	ORPHA:432
HP:0034392	Joint contracture	55636	CHD7	ORPHA:432
HP:0034392	Joint contracture	6870	TACR3	ORPHA:432
HP:0034392	Joint contracture	1848	DUSP6	ORPHA:432
HP:0034392	Joint contracture	26012	NSMF	ORPHA:432
HP:0034392	Joint contracture	55717	WDR11	ORPHA:432
HP:0034392	Joint contracture	9394	HS6ST1	ORPHA:432
HP:0034392	Joint contracture	2796	GNRH1	ORPHA:432
HP:0034392	Joint contracture	2798	GNRHR	ORPHA:432
HP:0034392	Joint contracture	84634	KISS1R	ORPHA:432
HP:0034392	Joint contracture	6866	TAC3	ORPHA:432
HP:0034392	Joint contracture	8822	FGF17	ORPHA:432
HP:0034392	Joint contracture	3814	KISS1	ORPHA:432
HP:0034392	Joint contracture	1281	COL3A1	OMIM:618343
HP:0034392	Joint contracture	9158	FIBP	ORPHA:500095
HP:0034392	Joint contracture	84162	BLTP1	OMIM:617822
HP:0034392	Joint contracture	54808	DYM	OMIM:223800
HP:0034392	Joint contracture	56915	EXOSC5	OMIM:619576
HP:0034392	Joint contracture	92255	LMBRD2	OMIM:619694
HP:0034392	Joint contracture	23511	NUP188	OMIM:618804
HP:0034392	Joint contracture	92344	GORAB	OMIM:231070
HP:0034392	Joint contracture	29940	DSE	OMIM:615539
HP:0034392	Joint contracture	727857	BHLHA9	OMIM:607539
HP:0034392	Joint contracture	10943	MSL3	OMIM:301032
HP:0034392	Joint contracture	633	BGN	OMIM:300989
HP:0034392	Joint contracture	79576	NKAP	OMIM:301039
HP:0034392	Joint contracture	25	ABL1	OMIM:617602
HP:0034392	Joint contracture	3930	LBR	OMIM:618019
HP:0034392	Joint contracture	26040	SETBP1	ORPHA:798
HP:0034392	Joint contracture	6611	SMS	ORPHA:3063
HP:0034392	Joint contracture	55975	KLHL7	OMIM:617055
HP:0034392	Joint contracture	51715	RAB23	OMIM:201000
HP:0034392	Joint contracture	83737	ITCH	OMIM:613385
HP:0034392	Joint contracture	83737	ITCH	ORPHA:228426
HP:0034392	Joint contracture	90416	CCDC32	OMIM:619123
HP:0034392	Joint contracture	139285	AMER1	OMIM:300373
HP:0034392	Joint contracture	10084	PQBP1	OMIM:309500
HP:0034392	Joint contracture	6913	TBX15	OMIM:260660
HP:0034392	Joint contracture	2036	EPB41L1	OMIM:614257
HP:0034392	Joint contracture	523	ATP6V1A	OMIM:617403
HP:0034392	Joint contracture	529	ATP6V1E1	OMIM:617402
HP:0034392	Joint contracture	4233	MET	OMIM:620019
HP:0034392	Joint contracture	6840	SVIL	OMIM:619040
HP:0034392	Joint contracture	3861	KRT14	ORPHA:69087
HP:0034392	Joint contracture	28982	FLVCR1	ORPHA:88628
HP:0034392	Joint contracture	28982	FLVCR1	OMIM:609033
HP:0034392	Joint contracture	5159	PDGFRB	OMIM:601812
HP:0034392	Joint contracture	4921	DDR2	OMIM:618175
HP:0034392	Joint contracture	22880	MORC2	ORPHA:466768
HP:0034392	Joint contracture	1859	DYRK1A	ORPHA:464311
HP:0034392	Joint contracture	64065	PERP	OMIM:619208
HP:0034392	Joint contracture	1272	CNTN1	OMIM:612540
HP:0034392	Joint contracture	64423	INF2	OMIM:614455
HP:0034392	Joint contracture	10280	SIGMAR1	OMIM:605726
HP:0034392	Joint contracture	10397	NDRG1	OMIM:601455
HP:0034392	Joint contracture	3315	HSPB1	OMIM:606595
HP:0034392	Joint contracture	8566	PDXK	OMIM:618511
HP:0034392	Joint contracture	3098	HK1	OMIM:605285
HP:0034392	Joint contracture	3481	IGF2	OMIM:616489
HP:0034392	Joint contracture	57038	RARS2	OMIM:611523
HP:0034392	Joint contracture	11340	EXOSC8	OMIM:616081
HP:0034392	Joint contracture	80347	COASY	OMIM:618266
HP:0034392	Joint contracture	197258	FCSK	OMIM:618324
HP:0034392	Joint contracture	2530	FUT8	OMIM:618005
HP:0034392	Joint contracture	11019	LIAS	OMIM:614462
HP:0034392	Joint contracture	54892	NCAPG2	OMIM:618460
HP:0034392	Joint contracture	51501	HIKESHI	OMIM:616881
HP:0034392	Joint contracture	9255	AIMP1	OMIM:260600
HP:0034392	Joint contracture	56270	WDR45B	OMIM:617977
HP:0034392	Joint contracture	5111	PCNA	OMIM:615919
HP:0034392	Joint contracture	145258	GSC	OMIM:602471
HP:0034392	Joint contracture	5424	POLD1	OMIM:615381
HP:0034392	Joint contracture	58497	PRUNE1	OMIM:617481
HP:0034392	Joint contracture	65993	MRPS34	OMIM:617664
HP:0034392	Joint contracture	55331	ACER3	OMIM:617762
HP:0034392	Joint contracture	55640	FLVCR2	OMIM:225790
HP:0034392	Joint contracture	2893	GRIA4	OMIM:617864
HP:0034392	Joint contracture	221927	BRAT1	OMIM:614498
HP:0034392	Joint contracture	6785	ELOVL4	OMIM:614457
HP:0034392	Joint contracture	23534	TNPO3	OMIM:608423
HP:0034392	Joint contracture	374393	FAM111B	OMIM:615704
HP:0034392	Joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0034392	Joint contracture	259232	NALCN	ORPHA:2053
HP:0034392	Joint contracture	259232	NALCN	ORPHA:1146
HP:0034392	Joint contracture	8294	H4C9	OMIM:619951
HP:0034392	Joint contracture	8838	CCN6	OMIM:208230
HP:0034392	Joint contracture	1947	EFNB1	ORPHA:1520
HP:0034392	Joint contracture	7355	SLC35A2	ORPHA:356961
HP:0034392	Joint contracture	5077	PAX3	ORPHA:1529
HP:0034392	Joint contracture	5077	PAX3	ORPHA:896
HP:0034392	Joint contracture	5077	PAX3	OMIM:148820
HP:0034392	Joint contracture	9241	NOG	ORPHA:3250
HP:0034392	Joint contracture	613	BCR	ORPHA:261330
HP:0034392	Joint contracture	1399	CRKL	ORPHA:261330
HP:0034392	Joint contracture	5594	MAPK1	ORPHA:261330
HP:0034392	Joint contracture	84466	MEGF10	OMIM:614399
HP:0034392	Joint contracture	72	ACTG2	ORPHA:2604
HP:0034392	Joint contracture	10216	PRG4	ORPHA:2848
HP:0034392	Joint contracture	3508	IGHMBP2	OMIM:604320
HP:0034392	Joint contracture	6926	TBX3	ORPHA:3138
HP:0034392	Joint contracture	51360	MBTPS2	ORPHA:2273
HP:0034392	Joint contracture	10381	TUBB3	OMIM:600638
HP:0034392	Joint contracture	64359	NXN	ORPHA:1507
HP:0034392	Joint contracture	4920	ROR2	ORPHA:1507
HP:0034392	Joint contracture	2697	GJA1	ORPHA:2710
HP:0034392	Joint contracture	2697	GJA1	ORPHA:93404
HP:0034392	Joint contracture	64127	NOD2	OMIM:186580
HP:0034392	Joint contracture	64127	NOD2	ORPHA:90340
HP:0034392	Joint contracture	6999	TDO2	OMIM:600627
HP:0034392	Joint contracture	1301	COL11A1	ORPHA:2021
HP:0034392	Joint contracture	10716	TBR1	ORPHA:1617
HP:0034392	Joint contracture	4593	MUSK	OMIM:208150
HP:0034392	Joint contracture	4593	MUSK	ORPHA:994
HP:0034392	Joint contracture	56006	SMG9	OMIM:616920
HP:0034392	Joint contracture	1857	DVL3	ORPHA:3107
HP:0034392	Joint contracture	7474	WNT5A	ORPHA:3107
HP:0034392	Joint contracture	1855	DVL1	ORPHA:3107
HP:0034392	Joint contracture	2535	FZD2	ORPHA:3107
HP:0034392	Joint contracture	9508	ADAMTS3	ORPHA:2136
HP:0034392	Joint contracture	147372	CCBE1	ORPHA:2136
HP:0034392	Joint contracture	79633	FAT4	ORPHA:2136
HP:0034392	Joint contracture	5189	PEX1	ORPHA:3220
HP:0034392	Joint contracture	5190	PEX6	ORPHA:3220
HP:0034392	Joint contracture	5590	PRKCZ	ORPHA:1606
HP:0034392	Joint contracture	2563	GABRD	ORPHA:1606
HP:0034392	Joint contracture	23013	SPEN	ORPHA:1606
HP:0034392	Joint contracture	8510	MMP23B	ORPHA:1606
HP:0034392	Joint contracture	7798	LUZP1	ORPHA:1606
HP:0034392	Joint contracture	6497	SKI	ORPHA:1606
HP:0034392	Joint contracture	6497	SKI	ORPHA:2462
HP:0034392	Joint contracture	10630	PDPN	ORPHA:1606
HP:0034392	Joint contracture	10277	UBE4B	ORPHA:1606
HP:0034392	Joint contracture	8514	KCNAB2	ORPHA:1606
HP:0034392	Joint contracture	473	RERE	ORPHA:1606
HP:0034392	Joint contracture	63976	PRDM16	ORPHA:1606
HP:0034392	Joint contracture	54897	CASZ1	ORPHA:1606
HP:0034392	Joint contracture	9719	ADAMTSL2	OMIM:231050
HP:0034392	Joint contracture	4952	OCRL	OMIM:309000
HP:0034392	Joint contracture	8517	IKBKG	ORPHA:464
HP:0034392	Joint contracture	10436	EMG1	ORPHA:1270
HP:0034392	Joint contracture	57492	ARID1B	ORPHA:251056
HP:0034392	Joint contracture	2239	GPC4	ORPHA:373
HP:0034392	Joint contracture	2719	GPC3	ORPHA:373
HP:0034392	Joint contracture	23483	TGDS	ORPHA:1388
HP:0034392	Joint contracture	7140	TNNT3	ORPHA:1146
HP:0034392	Joint contracture	7136	TNNI2	ORPHA:1146
HP:0034392	Joint contracture	7136	TNNI2	OMIM:601680
HP:0034392	Joint contracture	6885	MAP3K7	ORPHA:1826
HP:0034392	Joint contracture	117581	TWIST2	ORPHA:920
HP:0034392	Joint contracture	23512	SUZ12	ORPHA:3447
HP:0034392	Joint contracture	2146	EZH2	ORPHA:3447
HP:0034392	Joint contracture	1723	DHODH	ORPHA:246
HP:0034392	Joint contracture	257	ALX3	ORPHA:391474
HP:0034392	Joint contracture	3239	HOXD13	OMIM:186300
HP:0034392	Joint contracture	3239	HOXD13	ORPHA:93406
HP:0034392	Joint contracture	54903	MKS1	OMIM:249000
HP:0034392	Joint contracture	22930	RAB3GAP1	OMIM:619420
HP:0034392	Joint contracture	7046	TGFBR1	ORPHA:60030
HP:0034392	Joint contracture	10526	IPO8	ORPHA:60030
HP:0034392	Joint contracture	3897	L1CAM	ORPHA:2466
HP:0034392	Joint contracture	2245	FGD1	ORPHA:915
HP:0034392	Joint contracture	7227	TRPS1	ORPHA:77258
HP:0034392	Joint contracture	4088	SMAD3	ORPHA:284984
HP:0034392	Joint contracture	27238	GPKOW	ORPHA:2570
HP:0034392	Joint contracture	10466	COG5	ORPHA:263487
HP:0034392	Joint contracture	55315	SLC29A3	OMIM:602782
HP:0034392	Joint contracture	23102	TBC1D2B	OMIM:619323
HP:0034392	Joint contracture	51114	ZDHHC9	ORPHA:776
HP:0034392	Joint contracture	65109	UPF3B	ORPHA:776
HP:0034392	Joint contracture	114548	NLRP3	ORPHA:575
HP:0034392	Joint contracture	2073	ERCC5	ORPHA:1466
HP:0034392	Joint contracture	134701	RIPPLY2	ORPHA:2311
HP:0034392	Joint contracture	10683	DLL3	ORPHA:2311
HP:0034392	Joint contracture	3955	LFNG	ORPHA:2311
HP:0034392	Joint contracture	84667	HES7	ORPHA:2311
HP:0034392	Joint contracture	145873	MESP2	ORPHA:2311
HP:0034392	Joint contracture	81620	CDT1	ORPHA:2554
HP:0034392	Joint contracture	5000	ORC4	ORPHA:2554
HP:0034392	Joint contracture	23594	ORC6	ORPHA:2554
HP:0034392	Joint contracture	8318	CDC45	ORPHA:2554
HP:0034392	Joint contracture	990	CDC6	ORPHA:2554
HP:0034392	Joint contracture	51053	GMNN	ORPHA:2554
HP:0034392	Joint contracture	8260	NAA10	ORPHA:568
HP:0034392	Joint contracture	64327	LMBR1	ORPHA:93405
HP:0034392	Joint contracture	4927	NUP88	ORPHA:994
HP:0034392	Joint contracture	7846	TUBA1A	ORPHA:994
HP:0034392	Joint contracture	4654	MYOD1	ORPHA:994
HP:0034392	Joint contracture	6572	SLC18A3	ORPHA:994
HP:0034392	Joint contracture	285489	DOK7	ORPHA:994
HP:0034392	Joint contracture	3914	LAMB3	OMIM:226650
HP:0034392	Joint contracture	9150	CTDP1	ORPHA:48431
HP:0034392	Joint contracture	8092	ALX1	ORPHA:306542
HP:0034392	Joint contracture	29895	MYL11	OMIM:619110
HP:0034392	Joint contracture	64840	PORCN	ORPHA:2092
HP:0034392	Joint contracture	23443	SLC35A3	OMIM:615553
HP:0034392	Joint contracture	285590	SH3PXD2B	ORPHA:137834
HP:0034392	Joint contracture	9935	MAFB	ORPHA:2774
HP:0034392	Joint contracture	28952	CCDC22	OMIM:300963
HP:0034392	Joint contracture	8450	CUL4B	ORPHA:85293
HP:0034392	Joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0034392	Joint contracture	2261	FGFR3	ORPHA:85164
HP:0034392	Joint contracture	23522	KAT6B	ORPHA:3047
HP:0034392	Joint contracture	26123	TCTN3	ORPHA:2753
HP:0034392	Joint contracture	64131	XYLT1	ORPHA:1425
HP:0034392	Joint contracture	124583	CANT1	ORPHA:1425
HP:0034392	Joint contracture	55790	CSGALNACT1	ORPHA:1425
HP:0034392	Joint contracture	51002	TPRKB	ORPHA:2065
HP:0034392	Joint contracture	84942	WDR73	ORPHA:2065
HP:0034392	Joint contracture	55644	OSGEP	ORPHA:2065
HP:0034392	Joint contracture	57122	NUP107	ORPHA:2065
HP:0034392	Joint contracture	55746	NUP133	ORPHA:2065
HP:0034392	Joint contracture	112858	TP53RK	ORPHA:2065
HP:0034392	Joint contracture	8270	LAGE3	ORPHA:2065
HP:0034392	Joint contracture	56916	SMARCAD1	ORPHA:1658
HP:0034393	Elbow extension contracture	57211	ADGRG6	OMIM:616503
HP:0034394	Forearm supination contracture	2273	FHL1	OMIM:300695
HP:0034396	Hippocampal malrotation	11023	VAX1	OMIM:614402
HP:0034396	Hippocampal malrotation	10695	CNPY3	OMIM:617929
HP:0034397	Claw toe deformity	126129	CPT1C	OMIM:616282
HP:0034398	Toe deformity	23111	SPART	OMIM:275900
HP:0034398	Toe deformity	65260	COA7	OMIM:618387
HP:0034398	Toe deformity	5376	PMP22	OMIM:118300
HP:0034398	Toe deformity	5376	PMP22	OMIM:118220
HP:0034398	Toe deformity	5376	PMP22	OMIM:180800
HP:0034398	Toe deformity	5376	PMP22	ORPHA:90658
HP:0034398	Toe deformity	5376	PMP22	OMIM:145900
HP:0034398	Toe deformity	127833	SYT2	OMIM:616040
HP:0034398	Toe deformity	112	ADCY6	OMIM:616287
HP:0034398	Toe deformity	7415	VCP	ORPHA:435387
HP:0034398	Toe deformity	7415	VCP	OMIM:616687
HP:0034398	Toe deformity	59341	TRPV4	OMIM:606071
HP:0034398	Toe deformity	1861	TOR1A	OMIM:618947
HP:0034398	Toe deformity	9927	MFN2	OMIM:609260
HP:0034398	Toe deformity	50717	DCAF8	OMIM:610100
HP:0034398	Toe deformity	4897	NRCAM	OMIM:619833
HP:0034398	Toe deformity	2617	GARS1	ORPHA:139536
HP:0034398	Toe deformity	2617	GARS1	OMIM:600794
HP:0034398	Toe deformity	2617	GARS1	OMIM:601472
HP:0034398	Toe deformity	26580	BSCL2	ORPHA:139536
HP:0034398	Toe deformity	65055	REEP1	ORPHA:139536
HP:0034398	Toe deformity	4747	NEFL	OMIM:607684
HP:0034398	Toe deformity	4359	MPZ	OMIM:180800
HP:0034398	Toe deformity	4359	MPZ	OMIM:118200
HP:0034398	Toe deformity	4359	MPZ	OMIM:145900
HP:0034398	Toe deformity	7879	RAB7A	OMIM:600882
HP:0034398	Toe deformity	10397	NDRG1	OMIM:601455
HP:0034398	Toe deformity	10397	NDRG1	ORPHA:99950
HP:0034398	Toe deformity	54880	BCOR	OMIM:300166
HP:0034398	Toe deformity	54880	BCOR	ORPHA:2712
HP:0034398	Toe deformity	5375	PMP2	OMIM:618279
HP:0034398	Toe deformity	23095	KIF1B	OMIM:118210
HP:0034398	Toe deformity	8566	PDXK	OMIM:618511
HP:0034398	Toe deformity	400916	CHCHD10	OMIM:615048
HP:0034398	Toe deformity	3035	HARS1	ORPHA:488333
HP:0034398	Toe deformity	3035	HARS1	OMIM:616625
HP:0034398	Toe deformity	90678	LRSAM1	OMIM:614436
HP:0034398	Toe deformity	11261	CHP1	OMIM:618438
HP:0034398	Toe deformity	3710	ITPR3	OMIM:620111
HP:0034398	Toe deformity	81846	SBF2	OMIM:604563
HP:0034398	Toe deformity	26278	SACS	OMIM:270550
HP:0034398	Toe deformity	4626	MYH8	OMIM:158300
HP:0034398	Toe deformity	10280	SIGMAR1	OMIM:605726
HP:0034398	Toe deformity	5264	PHYH	ORPHA:773
HP:0034398	Toe deformity	5191	PEX7	ORPHA:773
HP:0034398	Toe deformity	22880	MORC2	OMIM:619090
HP:0034398	Toe deformity	4358	MPV17	OMIM:618400
HP:0034398	Toe deformity	2200	FBN1	OMIM:154700
HP:0034398	Toe deformity	57449	PLEKHG5	OMIM:615376
HP:0034398	Toe deformity	165	AEBP1	OMIM:618000
HP:0034398	Toe deformity	165	AEBP1	ORPHA:536532
HP:0034398	Toe deformity	7994	KAT6A	OMIM:616268
HP:0034398	Toe deformity	3295	HSD17B4	OMIM:261515
HP:0034398	Toe deformity	157570	ESCO2	ORPHA:2319
HP:0034398	Toe deformity	79628	SH3TC2	OMIM:601596
HP:0034398	Toe deformity	79628	SH3TC2	ORPHA:99949
HP:0034398	Toe deformity	59345	GNB4	OMIM:615185
HP:0034398	Toe deformity	64423	INF2	OMIM:614455
HP:0034398	Toe deformity	16	AARS1	OMIM:613287
HP:0034398	Toe deformity	54332	GDAP1	ORPHA:99948
HP:0034398	Toe deformity	54332	GDAP1	OMIM:214400
HP:0034398	Toe deformity	54332	GDAP1	OMIM:608340
HP:0034398	Toe deformity	4000	LMNA	ORPHA:98856
HP:0034398	Toe deformity	1959	EGR2	OMIM:145900
HP:0034398	Toe deformity	57716	PRX	OMIM:145900
HP:0034398	Toe deformity	23443	SLC35A3	ORPHA:370943
HP:0034398	Toe deformity	168667	BMPER	OMIM:608022
HP:0034398	Toe deformity	8729	GBF1	OMIM:606483
HP:0034398	Toe deformity	64132	XYLT2	OMIM:605822
HP:0034398	Toe deformity	10682	EBP	ORPHA:401973
HP:0034398	Toe deformity	10682	EBP	OMIM:300960
HP:0034398	Toe deformity	2737	GLI3	ORPHA:672
HP:0034398	Toe deformity	22827	PUF60	ORPHA:508498
HP:0034398	Toe deformity	10262	SF3B4	OMIM:154400
HP:0034398	Toe deformity	57003	CCDC47	OMIM:618268
HP:0034398	Toe deformity	63895	PIEZO2	OMIM:114300
HP:0034398	Toe deformity	348180	CTU2	OMIM:618142
HP:0034398	Toe deformity	91754	NEK9	OMIM:614262
HP:0034398	Toe deformity	2132	EXT2	OMIM:616682
HP:0034398	Toe deformity	2132	EXT2	ORPHA:466926
HP:0034398	Toe deformity	51633	OTUD6B	OMIM:617452
HP:0034398	Toe deformity	51633	OTUD6B	ORPHA:505237
HP:0034398	Toe deformity	10815	CPLX1	OMIM:617976
HP:0034398	Toe deformity	392255	GDF6	OMIM:617898
HP:0034398	Toe deformity	25782	RAB3GAP2	OMIM:614225
HP:0034398	Toe deformity	998	CDC42	ORPHA:487796
HP:0034398	Toe deformity	998	CDC42	OMIM:616737
HP:0034398	Toe deformity	6660	SOX5	OMIM:616803
HP:0034398	Toe deformity	8239	USP9X	ORPHA:480880
HP:0034398	Toe deformity	9894	TELO2	ORPHA:488642
HP:0034398	Toe deformity	55628	ZNF407	OMIM:619557
HP:0034398	Toe deformity	89970	RSPRY1	OMIM:616723
HP:0034398	Toe deformity	89970	RSPRY1	ORPHA:457395
HP:0034398	Toe deformity	54499	TMCO1	OMIM:213980
HP:0034398	Toe deformity	118987	PDZD8	OMIM:620021
HP:0034398	Toe deformity	79228	THOC6	ORPHA:363444
HP:0034398	Toe deformity	4089	SMAD4	OMIM:139210
HP:0034398	Toe deformity	6647	SOD1	OMIM:618598
HP:0034398	Toe deformity	170302	ARX	OMIM:300004
HP:0034398	Toe deformity	388015	RTL1	ORPHA:254528
HP:0034398	Toe deformity	8788	DLK1	ORPHA:254528
HP:0034398	Toe deformity	55384	MEG3	ORPHA:254528
HP:0034398	Toe deformity	5594	MAPK1	OMIM:619087
HP:0034398	Toe deformity	6536	SLC6A9	OMIM:617301
HP:0034398	Toe deformity	28952	CCDC22	OMIM:300963
HP:0034398	Toe deformity	84162	BLTP1	OMIM:617822
HP:0034398	Toe deformity	2263	FGFR2	OMIM:123790
HP:0034398	Toe deformity	9772	TMEM94	OMIM:618316
HP:0034398	Toe deformity	6925	TCF4	OMIM:610954
HP:0034398	Toe deformity	55343	SLC35C1	ORPHA:99843
HP:0034398	Toe deformity	7169	TPM2	OMIM:108120
HP:0034398	Toe deformity	50515	CHST11	OMIM:618167
HP:0034398	Toe deformity	3190	HNRNPK	OMIM:616580
HP:0034398	Toe deformity	22930	RAB3GAP1	OMIM:600118
HP:0034398	Toe deformity	22930	RAB3GAP1	OMIM:619420
HP:0034398	Toe deformity	9968	MED12	OMIM:300895
HP:0034398	Toe deformity	2186	BPTF	OMIM:617755
HP:0034398	Toe deformity	54916	TMEM260	OMIM:617478
HP:0034398	Toe deformity	81857	MED25	ORPHA:464738
HP:0034398	Toe deformity	2146	EZH2	OMIM:277590
HP:0034398	Toe deformity	1717	DHCR7	OMIM:270400
HP:0034398	Toe deformity	7703	PCGF2	OMIM:618371
HP:0034398	Toe deformity	129285	PPP1R21	OMIM:619383
HP:0034398	Toe deformity	171023	ASXL1	OMIM:605039
HP:0034398	Toe deformity	1387	CREBBP	OMIM:618332
HP:0034398	Toe deformity	26100	WIPI2	OMIM:618453
HP:0034398	Toe deformity	2033	EP300	OMIM:618333
HP:0034398	Toe deformity	1656	DDX6	OMIM:618653
HP:0034398	Toe deformity	26173	INTS1	OMIM:618571
HP:0034398	Toe deformity	1822	ATN1	OMIM:618494
HP:0034398	Toe deformity	55656	INTS8	OMIM:618572
HP:0034398	Toe deformity	2702	GJA5	OMIM:612474
HP:0034398	Toe deformity	2703	GJA8	OMIM:612474
HP:0034398	Toe deformity	529	ATP6V1E1	OMIM:617402
HP:0034398	Toe deformity	84148	KAT8	OMIM:618974
HP:0034398	Toe deformity	4654	MYOD1	OMIM:618975
HP:0034398	Toe deformity	7319	UBE2A	ORPHA:163956
HP:0034398	Toe deformity	25942	SIN3A	OMIM:613406
HP:0034398	Toe deformity	6638	SNRPN	ORPHA:177907
HP:0034398	Toe deformity	9230	RAB11B	OMIM:617807
HP:0034398	Toe deformity	26040	SETBP1	ORPHA:798
HP:0034398	Toe deformity	10075	HUWE1	OMIM:309590
HP:0034398	Toe deformity	126129	CPT1C	OMIM:616282
HP:0034399	Prolonged central motor conduction time	126129	CPT1C	OMIM:616282
HP:0500202	Abnormal CSF arginine concentration	10157	AASS	ORPHA:2203
HP:0500204	Decreased CSF arginine concentration	10157	AASS	ORPHA:2203
HP:0500205	Abnormal CSF aspartate family amino acid concentration	10157	AASS	ORPHA:2203
HP:0500205	Abnormal CSF aspartate family amino acid concentration	133686	NADK2	OMIM:616034
HP:0500205	Abnormal CSF aspartate family amino acid concentration	132	ADK	OMIM:614300
HP:0500206	Abnormal CSF lysine concentration	10157	AASS	ORPHA:2203
HP:0500206	Abnormal CSF lysine concentration	133686	NADK2	OMIM:616034
HP:0500208	Increased CSF lysine concentration	10157	AASS	ORPHA:2203
HP:0500208	Increased CSF lysine concentration	133686	NADK2	OMIM:616034
HP:0500209	Abnormal CSF methionine concentration	132	ADK	OMIM:614300
HP:0500210	Increased CSF methionine concentration	132	ADK	OMIM:614300
HP:0500214	Abnormal CSF aromatic amino acid concentration	2643	GCH1	OMIM:233910
HP:0500215	Abnormal CSF phenylalanine concentration	2643	GCH1	OMIM:233910
HP:0500223	Increased CSF phenylalanine concentration	2643	GCH1	OMIM:233910
HP:0500225	Abnormal CSF serine family amino acid concentration	29968	PSAT1	OMIM:610992
HP:0500225	Abnormal CSF serine family amino acid concentration	388962	BOLA3	OMIM:614299
HP:0500225	Abnormal CSF serine family amino acid concentration	27247	NFU1	OMIM:605711
HP:0500225	Abnormal CSF serine family amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0500225	Abnormal CSF serine family amino acid concentration	200205	IBA57	OMIM:615330
HP:0500226	Abnormal CSF serine concentration	29968	PSAT1	OMIM:610992
HP:0500228	Decreased CSF serine concentration	29968	PSAT1	OMIM:610992
HP:0500229	Abnormal CSF glycine concentration	29968	PSAT1	OMIM:610992
HP:0500229	Abnormal CSF glycine concentration	388962	BOLA3	OMIM:614299
HP:0500229	Abnormal CSF glycine concentration	27247	NFU1	OMIM:605711
HP:0500229	Abnormal CSF glycine concentration	132158	GLYCTK	ORPHA:941
HP:0500229	Abnormal CSF glycine concentration	200205	IBA57	OMIM:615330
HP:0500230	Increased CSF glycine concentration	388962	BOLA3	OMIM:614299
HP:0500230	Increased CSF glycine concentration	27247	NFU1	OMIM:605711
HP:0500230	Increased CSF glycine concentration	132158	GLYCTK	ORPHA:941
HP:0500230	Increased CSF glycine concentration	200205	IBA57	OMIM:615330
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	9361	LONP1	ORPHA:79243
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	5160	PDHA1	ORPHA:79243
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	1737	DLAT	ORPHA:79244
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	8050	PDHX	ORPHA:255182
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	100303755	PET117	OMIM:619063
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4697	NDUFA4	OMIM:619065
HP:0500232	Abnormal CSF alanine concentration	100303755	PET117	OMIM:619063
HP:0500232	Abnormal CSF alanine concentration	4697	NDUFA4	OMIM:619065
HP:0500233	Increased CSF alanine concentration	100303755	PET117	OMIM:619063
HP:0500233	Increased CSF alanine concentration	4697	NDUFA4	OMIM:619065
HP:0500238	Abnormal CSF albumin concentration	55768	NGLY1	OMIM:615273
HP:0500238	Abnormal CSF albumin concentration	55768	NGLY1	ORPHA:404454
HP:0500238	Abnormal CSF albumin concentration	6558	SLC12A2	OMIM:619080
HP:0500239	Increased CSF albumin concentration	6558	SLC12A2	OMIM:619080
HP:0500243	Abnormal CSF ornithine concentration	10157	AASS	ORPHA:2203
HP:0500251	Abnormal urine sebacic acid concentration	763	CA5A	OMIM:615751
HP:0500253	Increased level of gamma-aminobutyric acid in urine	7915	ALDH5A1	OMIM:271980
HP:0031901	Elevated total serum tryptase	171023	ASXL1	ORPHA:98850
HP:0031901	Elevated total serum tryptase	171023	ASXL1	ORPHA:98849
HP:0031901	Elevated total serum tryptase	54790	TET2	ORPHA:98850
HP:0031901	Elevated total serum tryptase	54790	TET2	ORPHA:98849
HP:0031901	Elevated total serum tryptase	867	CBL	ORPHA:98850
HP:0031901	Elevated total serum tryptase	861	RUNX1	ORPHA:98850
HP:0031901	Elevated total serum tryptase	6427	SRSF2	ORPHA:98850
HP:0031901	Elevated total serum tryptase	6427	SRSF2	ORPHA:98849
HP:0031901	Elevated total serum tryptase	3815	KIT	ORPHA:98849
HP:0031901	Elevated total serum tryptase	3815	KIT	ORPHA:79455
HP:0031903	Abnormal circulating selenium concentration	79048	SECISBP2	ORPHA:171706
HP:0031903	Abnormal circulating selenium concentration	4312	MMP1	ORPHA:79408
HP:0031903	Abnormal circulating selenium concentration	1294	COL7A1	ORPHA:79408
HP:0031903	Abnormal circulating selenium concentration	1294	COL7A1	ORPHA:89842
HP:0031903	Abnormal circulating selenium concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0031908	Micrographia	4137	MAPT	ORPHA:240094
HP:0031908	Micrographia	4137	MAPT	OMIM:601104
HP:0031908	Micrographia	4137	MAPT	OMIM:168600
HP:0031908	Micrographia	23230	VPS13A	ORPHA:2388
HP:0031908	Micrographia	2512	FTL	OMIM:606159
HP:0031908	Micrographia	6575	SLC20A2	OMIM:213600
HP:0031908	Micrographia	5155	PDGFB	OMIM:213600
HP:0031908	Micrographia	5159	PDGFRB	OMIM:213600
HP:0031908	Micrographia	2747	GLUD2	OMIM:168600
HP:0031908	Micrographia	126	ADH1C	OMIM:168600
HP:0031908	Micrographia	2629	GBA1	OMIM:168600
HP:0031908	Micrographia	4929	NR4A2	OMIM:168600
HP:0031908	Micrographia	6908	TBP	OMIM:168600
HP:0031908	Micrographia	4576	MT-TT	OMIM:168600
HP:0031908	Micrographia	9627	SNCAIP	OMIM:168600
HP:0031908	Micrographia	6311	ATXN2	OMIM:168600
HP:0031908	Micrographia	6315	ATXN8OS	OMIM:168600
HP:0031908	Micrographia	6622	SNCA	OMIM:168601
HP:0031909	Unicornuate uterus	2783	GNB2	OMIM:619503
HP:0500262	Atrichia	51360	MBTPS2	OMIM:308205
HP:0500262	Atrichia	3229	HOXC13	OMIM:614931
HP:0500262	Atrichia	6720	SREBF1	OMIM:619016
HP:0500263	Abnormal helper T cell proportion	8456	FOXN1	OMIM:601705
HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	54440	SASH3	OMIM:301082
HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	5294	PIK3CG	OMIM:619802
HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	6929	TCF3	OMIM:619824
HP:0500267	Abnormal proportion of CD4-positive helper T cells	2137	EXTL3	ORPHA:508533
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3561	IL2RG	ORPHA:276
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3561	IL2RG	OMIM:312863
HP:0500267	Abnormal proportion of CD4-positive helper T cells	57724	EPG5	OMIM:242840
HP:0500267	Abnormal proportion of CD4-positive helper T cells	355	FAS	ORPHA:3261
HP:0500267	Abnormal proportion of CD4-positive helper T cells	356	FASLG	ORPHA:3261
HP:0500267	Abnormal proportion of CD4-positive helper T cells	5580	PRKCD	ORPHA:3261
HP:0500267	Abnormal proportion of CD4-positive helper T cells	843	CASP10	ORPHA:3261
HP:0500267	Abnormal proportion of CD4-positive helper T cells	10125	RASGRP1	ORPHA:3261
HP:0500267	Abnormal proportion of CD4-positive helper T cells	5994	RFXAP	ORPHA:572
HP:0500267	Abnormal proportion of CD4-positive helper T cells	4261	CIITA	ORPHA:572
HP:0500267	Abnormal proportion of CD4-positive helper T cells	5993	RFX5	ORPHA:572
HP:0500267	Abnormal proportion of CD4-positive helper T cells	8625	RFXANK	ORPHA:572
HP:0500267	Abnormal proportion of CD4-positive helper T cells	7454	WAS	OMIM:301000
HP:0500267	Abnormal proportion of CD4-positive helper T cells	84061	MAGT1	OMIM:300853
HP:0500267	Abnormal proportion of CD4-positive helper T cells	10043	TOM1	OMIM:619510
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3702	ITK	OMIM:613011
HP:0500267	Abnormal proportion of CD4-positive helper T cells	10625	IVNS1ABP	OMIM:618969
HP:0500267	Abnormal proportion of CD4-positive helper T cells	5238	PGM3	ORPHA:443811
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3551	IKBKB	OMIM:618204
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3932	LCK	OMIM:615758
HP:0500267	Abnormal proportion of CD4-positive helper T cells	54440	SASH3	OMIM:301082
HP:0500267	Abnormal proportion of CD4-positive helper T cells	9094	UNC119	OMIM:615518
HP:0500267	Abnormal proportion of CD4-positive helper T cells	5293	PIK3CD	ORPHA:221139
HP:0500267	Abnormal proportion of CD4-positive helper T cells	90417	KNSTRN	ORPHA:221139
HP:0500267	Abnormal proportion of CD4-positive helper T cells	4609	MYC	ORPHA:543
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3575	IL7R	ORPHA:169154
HP:0500267	Abnormal proportion of CD4-positive helper T cells	81704	DOCK8	OMIM:243700
HP:0500267	Abnormal proportion of CD4-positive helper T cells	56160	NSMCE3	OMIM:617241
HP:0500267	Abnormal proportion of CD4-positive helper T cells	472	ATM	OMIM:208900
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3953	LEPR	ORPHA:179494
HP:0500267	Abnormal proportion of CD4-positive helper T cells	3952	LEP	ORPHA:66628
HP:0500269	Abnormal proportion of gamma-delta T cells	27040	LAT	OMIM:617514
HP:0500269	Abnormal proportion of gamma-delta T cells	3978	LIG1	OMIM:619774
HP:0031910	Abnormal cranial nerve physiology	4359	MPZ	OMIM:618184
HP:0031910	Abnormal cranial nerve physiology	91574	MTRFR	ORPHA:254930
HP:0031910	Abnormal cranial nerve physiology	91574	MTRFR	OMIM:613559
HP:0031910	Abnormal cranial nerve physiology	8506	CNTNAP1	OMIM:618186
HP:0031910	Abnormal cranial nerve physiology	8506	CNTNAP1	OMIM:616286
HP:0031910	Abnormal cranial nerve physiology	112	ADCY6	OMIM:616287
HP:0031910	Abnormal cranial nerve physiology	2733	GLE1	OMIM:611890
HP:0031910	Abnormal cranial nerve physiology	1410	CRYAB	ORPHA:399058
HP:0031910	Abnormal cranial nerve physiology	19	ABCA1	OMIM:205400
HP:0031910	Abnormal cranial nerve physiology	19	ABCA1	ORPHA:31150
HP:0031910	Abnormal cranial nerve physiology	9997	SCO2	ORPHA:521411
HP:0031910	Abnormal cranial nerve physiology	9289	ADGRG1	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	5297	PI4KA	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	27286	SRPX2	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	8803	SUCLA2	OMIM:612073
HP:0031910	Abnormal cranial nerve physiology	6472	SHMT2	OMIM:619121
HP:0031910	Abnormal cranial nerve physiology	10730	YME1L1	OMIM:617302
HP:0031910	Abnormal cranial nerve physiology	2218	FKTN	ORPHA:370980
HP:0031910	Abnormal cranial nerve physiology	729920	CRPPA	ORPHA:370980
HP:0031910	Abnormal cranial nerve physiology	1760	DMPK	OMIM:160900
HP:0031910	Abnormal cranial nerve physiology	9990	SLC12A6	OMIM:218000
HP:0031910	Abnormal cranial nerve physiology	4649	MYO9A	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	1103	CHAT	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6576	SLC25A1	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6843	VAMP1	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	127833	SYT2	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6572	SLC18A3	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6616	SNAP25	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6390	SDHB	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6390	SDHB	OMIM:115310
HP:0031910	Abnormal cranial nerve physiology	6391	SDHC	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6391	SDHC	OMIM:605373
HP:0031910	Abnormal cranial nerve physiology	6392	SDHD	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6392	SDHD	OMIM:168000
HP:0031910	Abnormal cranial nerve physiology	28962	OSTM1	ORPHA:85179
HP:0031910	Abnormal cranial nerve physiology	10312	TCIRG1	OMIM:259700
HP:0031910	Abnormal cranial nerve physiology	10312	TCIRG1	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	5781	PTPN11	ORPHA:2499
HP:0031910	Abnormal cranial nerve physiology	8314	BAP1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	4771	NF2	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	4771	NF2	ORPHA:637
HP:0031910	Abnormal cranial nerve physiology	6598	SMARCB1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6598	SMARCB1	ORPHA:99966
HP:0031910	Abnormal cranial nerve physiology	5155	PDGFB	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	84231	TRAF7	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6608	SMO	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	207	AKT1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5290	PIK3CA	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5290	PIK3CA	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	7015	TERT	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	51684	SUFU	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6605	SMARCE1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5590	PRKCZ	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	2563	GABRD	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	23013	SPEN	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	8510	MMP23B	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	7798	LUZP1	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	6497	SKI	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	10630	PDPN	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	3339	HSPG2	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	10277	UBE4B	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	8514	KCNAB2	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	473	RERE	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	63976	PRDM16	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	54897	CASZ1	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	1493	CTLA4	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	26191	PTPN22	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	3115	HLA-DPB1	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	5657	PRTN3	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	3113	HLA-DPA1	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	1776	DNASE1L3	ORPHA:36412
HP:0031910	Abnormal cranial nerve physiology	79581	SLC52A2	OMIM:614707
HP:0031910	Abnormal cranial nerve physiology	1186	CLCN7	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	1186	CLCN7	ORPHA:53
HP:0031910	Abnormal cranial nerve physiology	29887	SNX10	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	8600	TNFSF11	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	54949	SDHAF2	OMIM:601650
HP:0031910	Abnormal cranial nerve physiology	4221	MEN1	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	64072	CDH23	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	64072	CDH23	ORPHA:91347
HP:0031910	Abnormal cranial nerve physiology	9049	AIP	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	1130	LYST	OMIM:214500
HP:0031910	Abnormal cranial nerve physiology	1130	LYST	ORPHA:167
HP:0031910	Abnormal cranial nerve physiology	6299	SALL1	ORPHA:857
HP:0031910	Abnormal cranial nerve physiology	51339	DACT1	ORPHA:857
HP:0031910	Abnormal cranial nerve physiology	2475	MTOR	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	10000	AKT3	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	3662	IRF4	ORPHA:3452
HP:0031910	Abnormal cranial nerve physiology	7132	TNFRSF1A	ORPHA:32960
HP:0031910	Abnormal cranial nerve physiology	55636	CHD7	ORPHA:138
HP:0031910	Abnormal cranial nerve physiology	9723	SEMA3E	ORPHA:138
HP:0031910	Abnormal cranial nerve physiology	389827	MYMK	ORPHA:1358
HP:0031910	Abnormal cranial nerve physiology	101929726	MYMX	ORPHA:1358
HP:0031910	Abnormal cranial nerve physiology	114548	NLRP3	ORPHA:575
HP:0031910	Abnormal cranial nerve physiology	5980	REV3L	ORPHA:570
HP:0031910	Abnormal cranial nerve physiology	23129	PLXND1	ORPHA:570
HP:0031910	Abnormal cranial nerve physiology	22943	DKK1	ORPHA:268882
HP:0031910	Abnormal cranial nerve physiology	672	BRCA1	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	10459	MAD2L2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	7516	XRCC2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	29089	UBE2T	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	675	BRCA2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55120	FANCL	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2177	FANCD2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2175	FANCA	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2187	FANCB	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2176	FANCC	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2178	FANCE	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2188	FANCF	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2189	FANCG	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	5888	RAD51	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	5889	RAD51C	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55159	RFWD3	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	83990	BRIP1	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	57697	FANCM	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	79728	PALB2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	84464	SLX4	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2072	ERCC4	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55215	FANCI	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	5376	PMP22	ORPHA:640
HP:0031910	Abnormal cranial nerve physiology	157570	ESCO2	OMIM:268300
HP:0031910	Abnormal cranial nerve physiology	4615	MYD88	ORPHA:33226
HP:0031910	Abnormal cranial nerve physiology	5728	PTEN	ORPHA:65285
HP:0031910	Abnormal cranial nerve physiology	4893	NRAS	OMIM:249400
HP:0031910	Abnormal cranial nerve physiology	80199	FUZ	ORPHA:1136
HP:0031910	Abnormal cranial nerve physiology	91147	TMEM67	ORPHA:140976
HP:0031910	Abnormal cranial nerve physiology	8792	TNFRSF11A	OMIM:602080
HP:0031910	Abnormal cranial nerve physiology	3418	IDH2	ORPHA:163634
HP:0031910	Abnormal cranial nerve physiology	3417	IDH1	ORPHA:163634
HP:0031910	Abnormal cranial nerve physiology	3145	HMBS	ORPHA:79276
HP:0031910	Abnormal cranial nerve physiology	113278	SLC52A3	OMIM:211530
HP:0031910	Abnormal cranial nerve physiology	760	CA2	ORPHA:2785
HP:0031910	Abnormal cranial nerve physiology	149233	IL23R	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	6775	STAT4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3586	IL10	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	4210	MEFV	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	1230	CCR1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	355	FAS	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3592	IL12A	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3106	HLA-B	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	7099	TLR4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3459	IFNGR1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	720	C4A	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	337867	UBAC2	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	51752	ERAP1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	8302	KLRC4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	4000	LMNA	ORPHA:2348
HP:0031910	Abnormal cranial nerve physiology	80232	WDR26	ORPHA:513456
HP:0031910	Abnormal cranial nerve physiology	23102	TBC1D2B	ORPHA:397973
HP:0031910	Abnormal cranial nerve physiology	128240	NAXE	OMIM:617186
HP:0031910	Abnormal cranial nerve physiology	51244	CCDC174	OMIM:616816
HP:0031910	Abnormal cranial nerve physiology	5660	PSAP	OMIM:610539
HP:0031910	Abnormal cranial nerve physiology	84570	COL25A1	ORPHA:91411
HP:0031910	Abnormal cranial nerve physiology	79776	ZFHX4	ORPHA:91411
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:97240
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	OMIM:616852
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	OMIM:161800
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	OMIM:269500
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	ORPHA:3416
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	ORPHA:3152
HP:0031910	Abnormal cranial nerve physiology	274	BIN1	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	274	BIN1	OMIM:255200
HP:0031910	Abnormal cranial nerve physiology	10290	SPEG	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	OMIM:255320
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:178145
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:98905
HP:0031910	Abnormal cranial nerve physiology	7273	TTN	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	291	SLC25A4	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	291	SLC25A4	OMIM:609283
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	OMIM:258450
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	ORPHA:254886
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	OMIM:157640
HP:0031910	Abnormal cranial nerve physiology	56652	TWNK	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	11232	POLG2	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	11232	POLG2	OMIM:610131
HP:0031910	Abnormal cranial nerve physiology	50484	RRM2B	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	22827	PUF60	ORPHA:508498
HP:0031910	Abnormal cranial nerve physiology	55906	ZC4H2	OMIM:301041
HP:0031910	Abnormal cranial nerve physiology	55906	ZC4H2	OMIM:314580
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	OMIM:608931
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	OMIM:610542
HP:0031910	Abnormal cranial nerve physiology	1145	CHRNE	OMIM:608931
HP:0031910	Abnormal cranial nerve physiology	1145	CHRNE	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1291	COL6A1	OMIM:254090
HP:0031910	Abnormal cranial nerve physiology	1292	COL6A2	OMIM:254090
HP:0031910	Abnormal cranial nerve physiology	1292	COL6A2	OMIM:255600
HP:0031910	Abnormal cranial nerve physiology	1293	COL6A3	OMIM:254090
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	OMIM:616322
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	OMIM:616323
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	2138	EYA1	OMIM:113650
HP:0031910	Abnormal cranial nerve physiology	2138	EYA1	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	2138	EYA1	ORPHA:52429
HP:0031910	Abnormal cranial nerve physiology	6495	SIX1	OMIM:113650
HP:0031910	Abnormal cranial nerve physiology	6495	SIX1	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	6495	SIX1	ORPHA:52429
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	OMIM:616165
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	2697	GJA1	ORPHA:1522
HP:0031910	Abnormal cranial nerve physiology	2697	GJA1	OMIM:218400
HP:0031910	Abnormal cranial nerve physiology	56172	ANKH	ORPHA:1522
HP:0031910	Abnormal cranial nerve physiology	56172	ANKH	OMIM:123000
HP:0031910	Abnormal cranial nerve physiology	4593	MUSK	OMIM:616325
HP:0031910	Abnormal cranial nerve physiology	4593	MUSK	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1305	COL13A1	OMIM:616720
HP:0031910	Abnormal cranial nerve physiology	1305	COL13A1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	23394	ADNP	OMIM:615873
HP:0031910	Abnormal cranial nerve physiology	400916	CHCHD10	OMIM:616209
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	OMIM:614305
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	ORPHA:3152
HP:0031910	Abnormal cranial nerve physiology	7415	VCP	OMIM:167320
HP:0031910	Abnormal cranial nerve physiology	1134	CHRNA1	OMIM:608930
HP:0031910	Abnormal cranial nerve physiology	1134	CHRNA1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	4747	NEFL	OMIM:607684
HP:0031910	Abnormal cranial nerve physiology	825	CAPN3	OMIM:253600
HP:0031910	Abnormal cranial nerve physiology	57167	SALL4	OMIM:607323
HP:0031910	Abnormal cranial nerve physiology	10049	DNAJB6	OMIM:603511
HP:0031910	Abnormal cranial nerve physiology	1120	CHKB	OMIM:602541
HP:0031910	Abnormal cranial nerve physiology	57165	GJC2	OMIM:608804
HP:0031910	Abnormal cranial nerve physiology	7169	TPM2	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	7169	TPM2	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	1073	CFL2	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	60482	SLC5A7	OMIM:617143
HP:0031910	Abnormal cranial nerve physiology	7084	TK2	ORPHA:254886
HP:0031910	Abnormal cranial nerve physiology	92667	MGME1	OMIM:615084
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	OMIM:255310
HP:0031910	Abnormal cranial nerve physiology	29998	BICRA	OMIM:619325
HP:0031910	Abnormal cranial nerve physiology	131377	KLHL40	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	131377	KLHL40	OMIM:615348
HP:0031910	Abnormal cranial nerve physiology	9790	BMS1	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	5339	PLEC	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	10054	UBA2	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	3691	ITGB4	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	54567	DLL4	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:3416
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:2790
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:178377
HP:0031910	Abnormal cranial nerve physiology	84466	MEGF10	OMIM:614399
HP:0031910	Abnormal cranial nerve physiology	3908	LAMA2	ORPHA:258
HP:0031910	Abnormal cranial nerve physiology	4625	MYH7	OMIM:160500
HP:0031910	Abnormal cranial nerve physiology	4625	MYH7	ORPHA:437572
HP:0031910	Abnormal cranial nerve physiology	29925	GMPPB	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	29925	GMPPB	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	1798	DPAGT1	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	85365	ALG2	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	199857	ALG14	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	427	ASAH1	OMIM:159950
HP:0031910	Abnormal cranial nerve physiology	79147	FKRP	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	79147	FKRP	OMIM:606612
HP:0031910	Abnormal cranial nerve physiology	29954	POMT2	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	29954	POMT2	OMIM:613156
HP:0031910	Abnormal cranial nerve physiology	9215	LARGE1	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	9215	LARGE1	OMIM:608840
HP:0031910	Abnormal cranial nerve physiology	10585	POMT1	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	10585	POMT1	OMIM:613155
HP:0031910	Abnormal cranial nerve physiology	57190	SELENON	OMIM:602771
HP:0031910	Abnormal cranial nerve physiology	51816	ADA2	OMIM:182410
HP:0031910	Abnormal cranial nerve physiology	10735	STAG2	OMIM:301022
HP:0031910	Abnormal cranial nerve physiology	2483	FRG1	OMIM:158900
HP:0031910	Abnormal cranial nerve physiology	23347	SMCHD1	OMIM:158901
HP:0031910	Abnormal cranial nerve physiology	8878	SQSTM1	OMIM:617158
HP:0031910	Abnormal cranial nerve physiology	84665	MYPN	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	84665	MYPN	OMIM:617336
HP:0031910	Abnormal cranial nerve physiology	10381	TUBB3	OMIM:600638
HP:0031910	Abnormal cranial nerve physiology	22954	TRIM32	OMIM:254110
HP:0031910	Abnormal cranial nerve physiology	56244	BTNL2	OMIM:612387
HP:0031910	Abnormal cranial nerve physiology	56244	BTNL2	ORPHA:797
HP:0031910	Abnormal cranial nerve physiology	29967	LRP12	OMIM:164310
HP:0031910	Abnormal cranial nerve physiology	10020	GNE	ORPHA:602
HP:0031910	Abnormal cranial nerve physiology	7020	TFAP2A	OMIM:113620
HP:0031910	Abnormal cranial nerve physiology	51651	PTRH2	ORPHA:456312
HP:0031910	Abnormal cranial nerve physiology	1303	COL12A1	OMIM:616470
HP:0031910	Abnormal cranial nerve physiology	7317	UBA1	OMIM:301830
HP:0031910	Abnormal cranial nerve physiology	390594	KBTBD13	OMIM:609273
HP:0031910	Abnormal cranial nerve physiology	139285	AMER1	ORPHA:2780
HP:0031910	Abnormal cranial nerve physiology	139285	AMER1	OMIM:300373
HP:0031910	Abnormal cranial nerve physiology	9531	BAG3	OMIM:612954
HP:0031910	Abnormal cranial nerve physiology	9244	CRLF1	OMIM:272430
HP:0031910	Abnormal cranial nerve physiology	3123	HLA-DRB1	ORPHA:797
HP:0031910	Abnormal cranial nerve physiology	84617	TUBB6	OMIM:617732
HP:0031910	Abnormal cranial nerve physiology	9791	PTDSS1	ORPHA:2658
HP:0031910	Abnormal cranial nerve physiology	3211	HOXB1	OMIM:614744
HP:0031910	Abnormal cranial nerve physiology	4534	MTM1	OMIM:310400
HP:0031910	Abnormal cranial nerve physiology	7040	TGFB1	ORPHA:1328
HP:0031910	Abnormal cranial nerve physiology	8085	KMT2D	OMIM:620186
HP:0031910	Abnormal cranial nerve physiology	80704	SLC19A3	OMIM:607483
HP:0031910	Abnormal cranial nerve physiology	147912	SIX5	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	8898	MTMR2	OMIM:601382
HP:0031910	Abnormal cranial nerve physiology	1785	DNM2	OMIM:160150
HP:0031910	Abnormal cranial nerve physiology	64419	MTMR14	OMIM:160150
HP:0031910	Abnormal cranial nerve physiology	2934	GSN	ORPHA:85448
HP:0031910	Abnormal cranial nerve physiology	23095	KIF1B	OMIM:118210
HP:0031910	Abnormal cranial nerve physiology	1674	DES	OMIM:601419
HP:0031910	Abnormal cranial nerve physiology	8292	COLQ	ORPHA:98915
HP:0031910	Abnormal cranial nerve physiology	3913	LAMB2	ORPHA:98915
HP:0031910	Abnormal cranial nerve physiology	6444	SGCD	ORPHA:219
HP:0031910	Abnormal cranial nerve physiology	23516	SLC39A14	OMIM:144755
HP:0031910	Abnormal cranial nerve physiology	8106	PABPN1	OMIM:164300
HP:0031910	Abnormal cranial nerve physiology	6329	SCN4A	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1140	CHRNB1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1140	CHRNB1	OMIM:616313
HP:0031910	Abnormal cranial nerve physiology	5913	RAPSN	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	375790	AGRN	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	221264	AK9	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	285489	DOK7	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	55670	PEX26	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5824	PEX19	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5828	PEX2	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	8504	PEX3	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	9409	PEX16	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5190	PEX6	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	8799	PEX11B	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5830	PEX5	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5189	PEX1	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5193	PEX12	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5194	PEX13	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5195	PEX14	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5192	PEX10	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	339855	KY	OMIM:617114
HP:0031910	Abnormal cranial nerve physiology	84168	ANTXR1	OMIM:230740
HP:0031910	Abnormal cranial nerve physiology	57731	SPTBN4	OMIM:617519
HP:0031910	Abnormal cranial nerve physiology	64127	NOD2	ORPHA:90340
HP:0031910	Abnormal cranial nerve physiology	8139	GAN	ORPHA:643
HP:0031910	Abnormal cranial nerve physiology	8139	GAN	OMIM:256850
HP:0031910	Abnormal cranial nerve physiology	79628	SH3TC2	OMIM:601596
HP:0031910	Abnormal cranial nerve physiology	4633	MYL2	OMIM:619424
HP:0031910	Abnormal cranial nerve physiology	203859	ANO5	OMIM:611307
HP:0031910	Abnormal cranial nerve physiology	203859	ANO5	ORPHA:206549
HP:0031910	Abnormal cranial nerve physiology	1861	TOR1A	OMIM:128100
HP:0031910	Abnormal cranial nerve physiology	59341	TRPV4	OMIM:181405
HP:0031910	Abnormal cranial nerve physiology	9935	MAFB	ORPHA:233
HP:0031910	Abnormal cranial nerve physiology	1123	CHN1	ORPHA:233
HP:0031910	Abnormal cranial nerve physiology	54658	UGT1A1	ORPHA:79234
HP:0031910	Abnormal cranial nerve physiology	55901	THSD1	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	7049	TGFBR3	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	1281	COL3A1	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	83854	ANGPTL6	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	2022	ENG	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	11198	SUPT16H	OMIM:619480
HP:0031910	Abnormal cranial nerve physiology	3098	HK1	OMIM:618547
HP:0031910	Abnormal cranial nerve physiology	4010	LMX1B	ORPHA:2614
HP:0031910	Abnormal cranial nerve physiology	5621	PRNP	ORPHA:282166
HP:0031910	Abnormal cranial nerve physiology	10342	TFG	ORPHA:90117
HP:0031910	Abnormal cranial nerve physiology	23345	SYNE1	ORPHA:319332
HP:0031911	Abnormal fifth cranial nerve physiology	5621	PRNP	ORPHA:282166
HP:0031911	Abnormal fifth cranial nerve physiology	79628	SH3TC2	ORPHA:99949
HP:0031911	Abnormal fifth cranial nerve physiology	8314	BAP1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	4771	NF2	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6598	SMARCB1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	5155	PDGFB	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	84231	TRAF7	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6608	SMO	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	207	AKT1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	5290	PIK3CA	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	7015	TERT	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	51684	SUFU	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6605	SMARCE1	ORPHA:2495
HP:0031913	Rhombencephalosynapsis	55770	EXOC2	OMIM:619306
HP:0031913	Rhombencephalosynapsis	28514	DLL1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2253	FGF8	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6496	SIX3	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	7050	TGIF1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	4838	NODAL	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6469	SHH	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	7546	ZIC2	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6491	STIL	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2619	GAS1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	84976	DISP1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2736	GLI2	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	8928	FOXH1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	5727	PTCH1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	50937	CDON	ORPHA:280195
HP:0031917	Digital ulcer	10558	SPTLC1	OMIM:162400
HP:0031917	Digital ulcer	54463	RETREG1	OMIM:201300
HP:0031917	Digital ulcer	54463	RETREG1	OMIM:613115
HP:0031917	Digital ulcer	65125	WNK1	OMIM:201300
HP:0031917	Digital ulcer	6335	SCN9A	OMIM:201300
HP:0031917	Digital ulcer	547	KIF1A	OMIM:201300
HP:0031917	Digital ulcer	547	KIF1A	OMIM:614213
HP:0031917	Digital ulcer	22948	CCT5	OMIM:256840
HP:0031917	Digital ulcer	22948	CCT5	ORPHA:139578
HP:0031917	Digital ulcer	4358	MPV17	OMIM:256810
HP:0031917	Digital ulcer	4914	NTRK1	OMIM:256800
HP:0031917	Digital ulcer	4803	NGF	OMIM:608654
HP:0031918	Ovarian sex cord-stromal tumor	23405	DICER1	OMIM:180295
HP:0031918	Ovarian sex cord-stromal tumor	8930	MBD4	OMIM:619975
HP:0031919	Juvenile type ovarian granulosa cell tumor	8930	MBD4	OMIM:619975
HP:0500270	Increased proportion of gamma-delta T cells	27040	LAT	OMIM:617514
HP:0500270	Increased proportion of gamma-delta T cells	3978	LIG1	OMIM:619774
HP:0031921	Gastrocnemius myalgia	400916	CHCHD10	ORPHA:276435
HP:0031923	Hematocolpos	7750	ZMYM2	OMIM:619522
HP:0031931	Ocular flutter	6531	SLC6A3	OMIM:613135
HP:0031931	Ocular flutter	773	CACNA1A	ORPHA:2131
HP:0031931	Ocular flutter	6507	SLC1A3	ORPHA:2131
HP:0031931	Ocular flutter	477	ATP1A2	ORPHA:2131
HP:0031931	Ocular flutter	478	ATP1A3	ORPHA:2131
HP:0031931	Ocular flutter	7355	SLC35A2	OMIM:300896
HP:0031935	Ascending aorta hypoplasia	2783	GNB2	OMIM:619503
HP:0031936	Delayed ability to walk	6095	RORA	OMIM:618060
HP:0031936	Delayed ability to walk	4359	MPZ	OMIM:618184
HP:0031936	Delayed ability to walk	7528	YY1	ORPHA:506358
HP:0031936	Delayed ability to walk	8036	SHOC2	OMIM:607721
HP:0031936	Delayed ability to walk	26960	NBEA	OMIM:619157
HP:0031936	Delayed ability to walk	104	ADARB1	OMIM:618862
HP:0031936	Delayed ability to walk	9853	RUSC2	OMIM:617773
HP:0031936	Delayed ability to walk	23241	PACS2	OMIM:618067
HP:0031936	Delayed ability to walk	6659	SOX4	OMIM:618506
HP:0031936	Delayed ability to walk	7109	TRAPPC10	OMIM:620027
HP:0031936	Delayed ability to walk	3190	HNRNPK	ORPHA:453504
HP:0031936	Delayed ability to walk	3190	HNRNPK	ORPHA:352665
HP:0031936	Delayed ability to walk	2617	GARS1	OMIM:619042
HP:0031936	Delayed ability to walk	4983	OPHN1	OMIM:300486
HP:0031936	Delayed ability to walk	10743	RAI1	ORPHA:477817
HP:0031936	Delayed ability to walk	80232	WDR26	ORPHA:513456
HP:0031936	Delayed ability to walk	80232	WDR26	OMIM:617616
HP:0031936	Delayed ability to walk	54344	DPM3	OMIM:618992
HP:0031936	Delayed ability to walk	3020	H3-3A	OMIM:619720
HP:0031936	Delayed ability to walk	80816	ASXL3	OMIM:615485
HP:0031936	Delayed ability to walk	6576	SLC25A1	OMIM:618197
HP:0031936	Delayed ability to walk	4649	MYO9A	OMIM:618198
HP:0031936	Delayed ability to walk	6616	SNAP25	OMIM:616330
HP:0031936	Delayed ability to walk	283489	CHAMP1	OMIM:616579
HP:0031936	Delayed ability to walk	27245	AHDC1	ORPHA:412069
HP:0031936	Delayed ability to walk	55904	KMT2E	OMIM:618512
HP:0031936	Delayed ability to walk	10501	SEMA6B	OMIM:618876
HP:0031936	Delayed ability to walk	80055	PGAP1	OMIM:615802
HP:0031936	Delayed ability to walk	318	NUDT2	OMIM:619844
HP:0031936	Delayed ability to walk	128486	FITM2	OMIM:618635
HP:0031936	Delayed ability to walk	28960	DCPS	OMIM:616459
HP:0031936	Delayed ability to walk	27102	EIF2AK1	OMIM:618878
HP:0031936	Delayed ability to walk	23431	AP4E1	OMIM:613744
HP:0031936	Delayed ability to walk	25782	RAB3GAP2	OMIM:212720
HP:0031936	Delayed ability to walk	79158	GNPTAB	OMIM:252500
HP:0031936	Delayed ability to walk	9382	COG1	OMIM:611209
HP:0031936	Delayed ability to walk	2192	FBLN1	ORPHA:404451
HP:0031936	Delayed ability to walk	6595	SMARCA2	OMIM:619293
HP:0031936	Delayed ability to walk	8029	CUBN	ORPHA:35858
HP:0031936	Delayed ability to walk	81693	AMN	ORPHA:35858
HP:0031936	Delayed ability to walk	83696	TRAPPC9	OMIM:613192
HP:0031936	Delayed ability to walk	4001	LMNB1	OMIM:619179
HP:0031936	Delayed ability to walk	23321	TRIM2	OMIM:615490
HP:0031936	Delayed ability to walk	2590	GALNT2	OMIM:618885
HP:0031936	Delayed ability to walk	57492	ARID1B	OMIM:135900
HP:0031936	Delayed ability to walk	80204	FBXO11	OMIM:618089
HP:0031936	Delayed ability to walk	535	ATP6V0A1	OMIM:619970
HP:0031936	Delayed ability to walk	5119	CHMP1A	OMIM:614961
HP:0031936	Delayed ability to walk	815	CAMK2A	OMIM:617798
HP:0031936	Delayed ability to walk	7436	VLDLR	OMIM:224050
HP:0031936	Delayed ability to walk	2770	GNAI1	OMIM:619854
HP:0031936	Delayed ability to walk	23325	WASHC4	OMIM:615817
HP:0031936	Delayed ability to walk	10716	TBR1	OMIM:606053
HP:0031936	Delayed ability to walk	9839	ZEB2	ORPHA:261552
HP:0031936	Delayed ability to walk	9839	ZEB2	ORPHA:261537
HP:0031936	Delayed ability to walk	84823	LMNB2	OMIM:619180
HP:0031936	Delayed ability to walk	64919	BCL11B	OMIM:618092
HP:0031936	Delayed ability to walk	1303	COL12A1	OMIM:616471
HP:0031936	Delayed ability to walk	1303	COL12A1	ORPHA:536516
HP:0031936	Delayed ability to walk	55703	POLR3B	OMIM:619742
HP:0031936	Delayed ability to walk	23203	PMPCA	ORPHA:1170
HP:0031936	Delayed ability to walk	23203	PMPCA	OMIM:213200
HP:0031936	Delayed ability to walk	88	ACTN2	OMIM:618654
HP:0031936	Delayed ability to walk	5528	PPP2R5D	OMIM:616355
HP:0031936	Delayed ability to walk	5528	PPP2R5D	ORPHA:457279
HP:0031936	Delayed ability to walk	5833	PCYT2	OMIM:618770
HP:0031936	Delayed ability to walk	54872	PIGG	ORPHA:488635
HP:0031936	Delayed ability to walk	1954	MEGF8	OMIM:614976
HP:0031936	Delayed ability to walk	11160	ERLIN2	OMIM:611225
HP:0031936	Delayed ability to walk	6602	SMARCD1	OMIM:618779
HP:0031936	Delayed ability to walk	284439	SLC25A42	OMIM:618416
HP:0031936	Delayed ability to walk	9711	RUBCN	OMIM:615705
HP:0031936	Delayed ability to walk	1576	CYP3A4	OMIM:619073
HP:0031936	Delayed ability to walk	2615	LRRC32	OMIM:619074
HP:0031936	Delayed ability to walk	4953	ODC1	OMIM:619075
HP:0031936	Delayed ability to walk	7840	ALMS1	ORPHA:64
HP:0031936	Delayed ability to walk	10585	POMT1	OMIM:609308
HP:0031936	Delayed ability to walk	7809	BSND	ORPHA:89938
HP:0031936	Delayed ability to walk	1188	CLCNKB	ORPHA:89938
HP:0031936	Delayed ability to walk	1187	CLCNKA	ORPHA:89938
HP:0031936	Delayed ability to walk	113612	CYP2U1	OMIM:615030
HP:0031936	Delayed ability to walk	5251	PHEX	ORPHA:89936
HP:0031936	Delayed ability to walk	253738	EBF3	OMIM:617330
HP:0031936	Delayed ability to walk	55621	TRMT1	OMIM:618302
HP:0031936	Delayed ability to walk	10717	AP4B1	OMIM:614066
HP:0031936	Delayed ability to walk	11154	AP4S1	OMIM:614067
HP:0031936	Delayed ability to walk	7862	BRPF1	OMIM:617333
HP:0031936	Delayed ability to walk	5063	PAK3	OMIM:300558
HP:0031936	Delayed ability to walk	1182	CLCN3	OMIM:619517
HP:0031936	Delayed ability to walk	57863	CADM3	OMIM:619519
HP:0031936	Delayed ability to walk	92609	TIMM50	OMIM:617698
HP:0031936	Delayed ability to walk	92609	TIMM50	ORPHA:505216
HP:0031936	Delayed ability to walk	3098	HK1	OMIM:618547
HP:0031936	Delayed ability to walk	84720	PIGO	OMIM:614749
HP:0031936	Delayed ability to walk	1650	DDOST	OMIM:614507
HP:0031936	Delayed ability to walk	6638	SNRPN	OMIM:105830
HP:0031936	Delayed ability to walk	6638	SNRPN	ORPHA:411515
HP:0031936	Delayed ability to walk	7337	UBE3A	OMIM:105830
HP:0031936	Delayed ability to walk	7337	UBE3A	ORPHA:411515
HP:0031936	Delayed ability to walk	5354	PLP1	ORPHA:280219
HP:0031936	Delayed ability to walk	22859	ADGRL1	OMIM:620065
HP:0031936	Delayed ability to walk	6558	SLC12A2	OMIM:619083
HP:0031936	Delayed ability to walk	111	ADCY5	OMIM:606703
HP:0031936	Delayed ability to walk	111	ADCY5	OMIM:619651
HP:0031936	Delayed ability to walk	283209	PGM2L1	OMIM:620191
HP:0031936	Delayed ability to walk	2521	FUS	ORPHA:300605
HP:0031936	Delayed ability to walk	80208	SPG11	ORPHA:300605
HP:0031936	Delayed ability to walk	10280	SIGMAR1	ORPHA:300605
HP:0031936	Delayed ability to walk	10558	SPTLC1	ORPHA:300605
HP:0031936	Delayed ability to walk	57679	ALS2	ORPHA:300605
HP:0031936	Delayed ability to walk	9533	POLR1C	OMIM:616494
HP:0031936	Delayed ability to walk	6261	RYR1	OMIM:117000
HP:0031936	Delayed ability to walk	6261	RYR1	OMIM:619542
HP:0031936	Delayed ability to walk	53335	BCL11A	OMIM:617101
HP:0031936	Delayed ability to walk	9474	ATG5	OMIM:617584
HP:0031936	Delayed ability to walk	4849	CNOT3	OMIM:618672
HP:0031936	Delayed ability to walk	6942	TCF20	OMIM:618430
HP:0031936	Delayed ability to walk	2542	SLC37A4	OMIM:619525
HP:0031936	Delayed ability to walk	3708	ITPR1	OMIM:117360
HP:0031936	Delayed ability to walk	9772	TMEM94	OMIM:618316
HP:0031936	Delayed ability to walk	57104	PNPLA2	OMIM:610717
HP:0031936	Delayed ability to walk	10430	TMEM147	OMIM:620075
HP:0031936	Delayed ability to walk	11152	WDR45	OMIM:300894
HP:0031936	Delayed ability to walk	4677	NARS1	OMIM:619091
HP:0031936	Delayed ability to walk	4677	NARS1	OMIM:619092
HP:0031936	Delayed ability to walk	23162	MAPK8IP3	OMIM:618443
HP:0031936	Delayed ability to walk	9922	IQSEC1	OMIM:618687
HP:0031936	Delayed ability to walk	27086	FOXP1	OMIM:613670
HP:0031936	Delayed ability to walk	55149	MTPAP	OMIM:613672
HP:0031936	Delayed ability to walk	7994	KAT6A	OMIM:616268
HP:0031936	Delayed ability to walk	23499	MACF1	OMIM:618325
HP:0031936	Delayed ability to walk	9725	TMEM63A	OMIM:618688
HP:0031936	Delayed ability to walk	1107	CHD3	OMIM:618205
HP:0031936	Delayed ability to walk	6567	SLC16A2	ORPHA:59
HP:0031936	Delayed ability to walk	1387	CREBBP	OMIM:618332
HP:0031936	Delayed ability to walk	2033	EP300	OMIM:618333
HP:0031936	Delayed ability to walk	10533	ATG7	OMIM:619422
HP:0031936	Delayed ability to walk	8295	TRRAP	OMIM:618454
HP:0031936	Delayed ability to walk	54903	MKS1	OMIM:249000
HP:0031936	Delayed ability to walk	8621	CDK13	OMIM:617360
HP:0031936	Delayed ability to walk	5888	RAD51	OMIM:617244
HP:0031936	Delayed ability to walk	22930	RAB3GAP1	OMIM:619420
HP:0031936	Delayed ability to walk	4208	MEF2C	OMIM:613443
HP:0031936	Delayed ability to walk	22907	DHX30	OMIM:617804
HP:0031936	Delayed ability to walk	6857	SYT1	OMIM:618218
HP:0031936	Delayed ability to walk	81603	TRIM8	OMIM:619428
HP:0031936	Delayed ability to walk	23534	TNPO3	OMIM:608423
HP:0031936	Delayed ability to walk	9230	RAB11B	OMIM:617807
HP:0031936	Delayed ability to walk	8905	AP1S2	OMIM:304340
HP:0031936	Delayed ability to walk	2902	GRIN1	ORPHA:208447
HP:0031936	Delayed ability to walk	10075	HUWE1	OMIM:309590
HP:0031936	Delayed ability to walk	55906	ZC4H2	OMIM:301041
HP:0031936	Delayed ability to walk	8243	SMC1A	OMIM:301044
HP:0031936	Delayed ability to walk	6134	RPL10	OMIM:300998
HP:0031936	Delayed ability to walk	1281	COL3A1	OMIM:618343
HP:0031936	Delayed ability to walk	5898	RALA	OMIM:619311
HP:0031936	Delayed ability to walk	79879	CCDC134	OMIM:619795
HP:0031936	Delayed ability to walk	1499	CTNNB1	OMIM:615075
HP:0031936	Delayed ability to walk	9759	HDAC4	OMIM:619797
HP:0031936	Delayed ability to walk	5351	PLOD1	OMIM:225400
HP:0031936	Delayed ability to walk	56896	DPYSL5	OMIM:619435
HP:0031936	Delayed ability to walk	54892	NCAPG2	OMIM:618460
HP:0031936	Delayed ability to walk	1778	DYNC1H1	OMIM:158600
HP:0031936	Delayed ability to walk	160418	TMTC3	OMIM:617255
HP:0031936	Delayed ability to walk	54517	PUS7	OMIM:618342
HP:0031936	Delayed ability to walk	124997	WDR81	OMIM:610185
HP:0031936	Delayed ability to walk	10765	KDM5B	OMIM:618109
HP:0031936	Delayed ability to walk	2290	FOXG1	OMIM:613454
HP:0031936	Delayed ability to walk	8573	CASK	OMIM:300749
HP:0031936	Delayed ability to walk	10785	WDR4	OMIM:618347
HP:0031936	Delayed ability to walk	55628	ZNF407	OMIM:619557
HP:0031936	Delayed ability to walk	8924	HERC2	OMIM:615516
HP:0031936	Delayed ability to walk	6418	SET	OMIM:618106
HP:0031936	Delayed ability to walk	56623	INPP5E	OMIM:213300
HP:0031936	Delayed ability to walk	5279	PIGC	OMIM:617816
HP:0031936	Delayed ability to walk	22845	DOLK	ORPHA:91131
HP:0031936	Delayed ability to walk	1605	DAG1	ORPHA:370997
HP:0031936	Delayed ability to walk	7707	ZNF148	OMIM:617260
HP:0031936	Delayed ability to walk	6548	SLC9A1	OMIM:616291
HP:0031936	Delayed ability to walk	10847	SRCAP	OMIM:136140
HP:0031936	Delayed ability to walk	5515	PPP2CA	OMIM:618354
HP:0031936	Delayed ability to walk	60482	SLC5A7	OMIM:617143
HP:0031936	Delayed ability to walk	23114	NFASC	OMIM:618356
HP:0031936	Delayed ability to walk	6651	SON	OMIM:617140
HP:0031936	Delayed ability to walk	57520	HECW2	OMIM:617268
HP:0031936	Delayed ability to walk	55209	SETD5	OMIM:615761
HP:0031936	Delayed ability to walk	10659	CELF2	OMIM:619561
HP:0031936	Delayed ability to walk	63895	PIEZO2	OMIM:617146
HP:0031936	Delayed ability to walk	80347	COASY	OMIM:615643
HP:0031936	Delayed ability to walk	3097	HIVEP2	OMIM:616977
HP:0031936	Delayed ability to walk	5010	CLDN11	OMIM:619328
HP:0031936	Delayed ability to walk	55033	FKBP14	OMIM:614557
HP:0031936	Delayed ability to walk	26224	FBXL3	OMIM:606220
HP:0031936	Delayed ability to walk	84679	SLC9A7	OMIM:301024
HP:0031936	Delayed ability to walk	90161	HS6ST2	OMIM:301025
HP:0031936	Delayed ability to walk	5934	RBL2	OMIM:619690
HP:0031936	Delayed ability to walk	1725	DHPS	OMIM:618480
HP:0031936	Delayed ability to walk	57190	SELENON	OMIM:602771
HP:0031936	Delayed ability to walk	4694	NDUFA1	OMIM:301020
HP:0031936	Delayed ability to walk	4784	NFIX	OMIM:602535
HP:0031936	Delayed ability to walk	4204	MECP2	OMIM:300055
HP:0031936	Delayed ability to walk	4204	MECP2	OMIM:300260
HP:0031936	Delayed ability to walk	10735	STAG2	OMIM:301022
HP:0031936	Delayed ability to walk	55967	NDUFA12	OMIM:618244
HP:0031936	Delayed ability to walk	8888	MCM3AP	OMIM:618124
HP:0031936	Delayed ability to walk	79641	ROGDI	OMIM:226750
HP:0031936	Delayed ability to walk	54496	PRMT7	OMIM:617157
HP:0031936	Delayed ability to walk	23345	SYNE1	OMIM:618484
HP:0031936	Delayed ability to walk	182	JAG1	OMIM:619574
HP:0031936	Delayed ability to walk	8120	AP3B2	OMIM:617276
HP:0031936	Delayed ability to walk	267010	RNU12	OMIM:620208
HP:0031936	Delayed ability to walk	10342	TFG	OMIM:615658
HP:0031936	Delayed ability to walk	84188	FAR1	OMIM:619338
HP:0031936	Delayed ability to walk	64131	XYLT1	OMIM:615777
HP:0031936	Delayed ability to walk	1737	DLAT	ORPHA:79244
HP:0031936	Delayed ability to walk	51608	GET4	OMIM:620200
HP:0031936	Delayed ability to walk	20	ABCA2	OMIM:618808
HP:0031936	Delayed ability to walk	128989	TANGO2	ORPHA:480864
HP:0031936	Delayed ability to walk	8604	SLC25A12	OMIM:612949
HP:0031936	Delayed ability to walk	54806	AHI1	OMIM:608629
HP:0031936	Delayed ability to walk	51185	CRBN	OMIM:607417
HP:0031936	Delayed ability to walk	2898	GRIK2	OMIM:619580
HP:0031936	Delayed ability to walk	80311	KLHL15	OMIM:300982
HP:0031936	Delayed ability to walk	1781	DYNC1I2	OMIM:618492
HP:0031936	Delayed ability to walk	10943	MSL3	OMIM:301032
HP:0031936	Delayed ability to walk	6390	SDHB	OMIM:619224
HP:0031936	Delayed ability to walk	23028	KDM1A	ORPHA:477993
HP:0031936	Delayed ability to walk	63931	MRPS14	OMIM:618378
HP:0031936	Delayed ability to walk	22808	MRAS	OMIM:618499
HP:0031936	Delayed ability to walk	9758	FRMPD4	OMIM:300983
HP:0031936	Delayed ability to walk	54681	P4HTM	OMIM:618493
HP:0031936	Delayed ability to walk	80185	TTI2	OMIM:615541
HP:0031936	Delayed ability to walk	4761	NEUROD2	OMIM:618374
HP:0031936	Delayed ability to walk	523	ATP6V1A	OMIM:618012
HP:0031936	Delayed ability to walk	54664	TMEM106B	OMIM:617964
HP:0031936	Delayed ability to walk	3908	LAMA2	OMIM:618138
HP:0031936	Delayed ability to walk	6304	SATB1	OMIM:619229
HP:0031936	Delayed ability to walk	84668	HYCC1	OMIM:610532
HP:0031936	Delayed ability to walk	3930	LBR	OMIM:618019
HP:0031936	Delayed ability to walk	54551	MAGEL2	OMIM:615547
HP:0031936	Delayed ability to walk	28982	FLVCR1	OMIM:609033
HP:0031936	Delayed ability to walk	84065	TMEM222	OMIM:619470
HP:0031936	Delayed ability to walk	5977	DPF2	OMIM:618027
HP:0031936	Delayed ability to walk	27107	ZBTB11	OMIM:618383
HP:0031936	Delayed ability to walk	22866	CNKSR2	OMIM:301008
HP:0031936	Delayed ability to walk	10815	CPLX1	OMIM:617976
HP:0031936	Delayed ability to walk	7204	TRIO	OMIM:618825
HP:0031936	Delayed ability to walk	7204	TRIO	OMIM:617061
HP:0031936	Delayed ability to walk	2588	GALNS	OMIM:253000
HP:0031936	Delayed ability to walk	23040	MYT1L	OMIM:616521
HP:0031936	Delayed ability to walk	3839	KPNA3	OMIM:620106
HP:0031936	Delayed ability to walk	8452	CUL3	OMIM:619239
HP:0031936	Delayed ability to walk	10283	CWC27	OMIM:250410
HP:0031936	Delayed ability to walk	80036	TRPM3	OMIM:620224
HP:0031936	Delayed ability to walk	8405	SPOP	OMIM:618828
HP:0031936	Delayed ability to walk	8405	SPOP	OMIM:618829
HP:0031936	Delayed ability to walk	8936	WASF1	OMIM:618707
HP:0031936	Delayed ability to walk	26047	CNTNAP2	ORPHA:163681
HP:0031936	Delayed ability to walk	1457	CSNK2A1	OMIM:617062
HP:0031936	Delayed ability to walk	84197	POMK	OMIM:616094
HP:0031936	Delayed ability to walk	4841	NONO	OMIM:300967
HP:0031936	Delayed ability to walk	5058	PAK1	OMIM:618158
HP:0031936	Delayed ability to walk	200894	ARL13B	OMIM:612291
HP:0031936	Delayed ability to walk	6472	SHMT2	OMIM:619121
HP:0031936	Delayed ability to walk	23233	EXOC6B	OMIM:618395
HP:0031936	Delayed ability to walk	28952	CCDC22	OMIM:300963
HP:0031936	Delayed ability to walk	79143	MBOAT7	OMIM:617188
HP:0031936	Delayed ability to walk	57688	ZSWIM6	OMIM:617865
HP:0031936	Delayed ability to walk	2893	GRIA4	OMIM:617864
HP:0031936	Delayed ability to walk	271	AMPD2	OMIM:615686
HP:0031936	Delayed ability to walk	9215	LARGE1	OMIM:608840
HP:0031936	Delayed ability to walk	4047	LSS	OMIM:618840
HP:0031936	Delayed ability to walk	6571	SLC18A2	OMIM:618049
HP:0031936	Delayed ability to walk	54802	TRIT1	OMIM:617873
HP:0031936	Delayed ability to walk	23154	NCDN	OMIM:619373
HP:0031936	Delayed ability to walk	1315	COPB1	OMIM:619255
HP:0031936	Delayed ability to walk	51780	KDM3B	OMIM:618846
HP:0031936	Delayed ability to walk	1073	CFL2	OMIM:610687
HP:0031936	Delayed ability to walk	5430	POLR2A	OMIM:618603
HP:0031936	Delayed ability to walk	81615	TMEM163	OMIM:620243
HP:0031936	Delayed ability to walk	64802	NMNAT1	OMIM:619260
HP:0031936	Delayed ability to walk	1795	DOCK3	OMIM:618292
HP:0031936	Delayed ability to walk	11133	KPTN	ORPHA:397612
HP:0031936	Delayed ability to walk	64432	MRPS25	OMIM:619025
HP:0031936	Delayed ability to walk	3735	KARS1	OMIM:619147
HP:0031936	Delayed ability to walk	8665	EIF3F	OMIM:618295
HP:0031936	Delayed ability to walk	221927	BRAT1	OMIM:618056
HP:0031936	Delayed ability to walk	4281	MID1	ORPHA:2745
HP:0031936	Delayed ability to walk	1140	CHRNB1	OMIM:616313
HP:0031936	Delayed ability to walk	1460	CSNK2B	OMIM:618732
HP:0031936	Delayed ability to walk	22868	FASTKD2	OMIM:618855
HP:0031936	Delayed ability to walk	57194	ATP10A	ORPHA:411515
HP:0031937	Tachylalia	4137	MAPT	ORPHA:240094
HP:0031938	Abnormal conus terminalis morphology	3187	HNRNPH1	OMIM:620083
HP:0031938	Abnormal conus terminalis morphology	5290	PIK3CA	OMIM:612918
HP:0031938	Abnormal conus terminalis morphology	54892	NCAPG2	OMIM:618460
HP:0031938	Abnormal conus terminalis morphology	84231	TRAF7	OMIM:618164
HP:0031938	Abnormal conus terminalis morphology	54496	PRMT7	OMIM:617157
HP:0031938	Abnormal conus terminalis morphology	3110	MNX1	OMIM:176450
HP:0031938	Abnormal conus terminalis morphology	23028	KDM1A	OMIM:616728
HP:0031938	Abnormal conus terminalis morphology	10093	ARPC4	OMIM:620141
HP:0031938	Abnormal conus terminalis morphology	2131	EXT1	ORPHA:321
HP:0031938	Abnormal conus terminalis morphology	2132	EXT2	ORPHA:321
HP:0031938	Abnormal conus terminalis morphology	81839	VANGL1	OMIM:600145
HP:0031938	Abnormal conus terminalis morphology	11198	SUPT16H	OMIM:619480
HP:0031938	Abnormal conus terminalis morphology	6299	SALL1	OMIM:107480
HP:0031938	Abnormal conus terminalis morphology	4774	NFIA	ORPHA:401986
HP:0031938	Abnormal conus terminalis morphology	23498	HAAO	OMIM:617660
HP:0031938	Abnormal conus terminalis morphology	10815	CPLX1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	10815	CPLX1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	54872	PIGG	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	7469	NELFA	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	1487	CTBP1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	1487	CTBP1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	3954	LETM1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	3954	LETM1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	7468	NSD2	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	7468	NSD2	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	1387	CREBBP	OMIM:618332
HP:0031938	Abnormal conus terminalis morphology	1615	DARS1	OMIM:615281
HP:0031938	Abnormal conus terminalis morphology	4854	NOTCH3	OMIM:130720
HP:0031938	Abnormal conus terminalis morphology	7750	ZMYM2	OMIM:619522
HP:0031938	Abnormal conus terminalis morphology	55262	TRAPPC14	OMIM:618351
HP:0031938	Abnormal conus terminalis morphology	5888	RAD51	OMIM:617244
HP:0031938	Abnormal conus terminalis morphology	53834	FGFRL1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	1499	CTNNB1	ORPHA:404473
HP:0031938	Abnormal conus terminalis morphology	5921	RASA1	ORPHA:90307
HP:0031939	Conus terminalis arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0011500	Polycoria	1282	COL4A1	OMIM:175780
HP:0011500	Polycoria	5308	PITX2	OMIM:180500
HP:0011501	Anterior lenticonus	1285	COL4A3	OMIM:203780
HP:0011501	Anterior lenticonus	1286	COL4A4	OMIM:203780
HP:0011501	Anterior lenticonus	1287	COL4A5	OMIM:301050
HP:0011501	Anterior lenticonus	1287	COL4A5	ORPHA:1018
HP:0011501	Anterior lenticonus	1288	COL4A6	ORPHA:1018
HP:0011502	Posterior lenticonus	3913	LAMB2	OMIM:609049
HP:0011504	Bull's eye maculopathy	256471	MFSD8	OMIM:616170
HP:0011504	Bull's eye maculopathy	24	ABCA4	OMIM:604116
HP:0011504	Bull's eye maculopathy	24	ABCA4	OMIM:248200
HP:0011504	Bull's eye maculopathy	83723	TLCD3B	OMIM:619531
HP:0011504	Bull's eye maculopathy	22999	RIMS1	OMIM:603649
HP:0011504	Bull's eye maculopathy	4117	MAK	OMIM:614181
HP:0011504	Bull's eye maculopathy	84839	RAX2	OMIM:610381
HP:0011504	Bull's eye maculopathy	3035	HARS1	OMIM:614504
HP:0011504	Bull's eye maculopathy	1201	CLN3	ORPHA:228346
HP:0011504	Bull's eye maculopathy	8842	PROM1	OMIM:612657
HP:0011504	Bull's eye maculopathy	54499	TMCO1	OMIM:213980
HP:0011504	Bull's eye maculopathy	6102	RP2	OMIM:312600
HP:0011504	Bull's eye maculopathy	54675	CRLS1	OMIM:620167
HP:0011504	Bull's eye maculopathy	3614	IMPDH1	OMIM:180105
HP:0011504	Bull's eye maculopathy	157680	VPS13B	OMIM:216550
HP:0011505	Cystoid macular edema	3105	HLA-A	ORPHA:179
HP:0011505	Cystoid macular edema	403	ARL3	OMIM:618173
HP:0011505	Cystoid macular edema	5961	PRPH2	ORPHA:52427
HP:0011505	Cystoid macular edema	6017	RLBP1	ORPHA:52427
HP:0011505	Cystoid macular edema	6010	RHO	ORPHA:52427
HP:0011505	Cystoid macular edema	5959	RDH5	ORPHA:52427
HP:0011505	Cystoid macular edema	10594	PRPF8	OMIM:600059
HP:0011505	Cystoid macular edema	64127	NOD2	OMIM:186580
HP:0011505	Cystoid macular edema	23370	ARHGEF18	OMIM:617433
HP:0011505	Cystoid macular edema	83552	MFRP	OMIM:611040
HP:0011505	Cystoid macular edema	55624	POMGNT1	OMIM:617123
HP:0011505	Cystoid macular edema	5148	PDE6G	OMIM:613582
HP:0011505	Cystoid macular edema	92840	REEP6	OMIM:617304
HP:0011505	Cystoid macular edema	94137	RP1L1	OMIM:618826
HP:0011505	Cystoid macular edema	285440	CYP4V2	ORPHA:41751
HP:0011505	Cystoid macular edema	79947	DHDDS	OMIM:613861
HP:0011505	Cystoid macular edema	3419	IDH3A	OMIM:619007
HP:0011505	Cystoid macular edema	57670	KIAA1549	OMIM:618613
HP:0011505	Cystoid macular edema	55975	KLHL7	OMIM:612943
HP:0011506	Choroidal neovascularization	2202	EFEMP1	ORPHA:75376
HP:0011506	Choroidal neovascularization	3075	CFH	ORPHA:75376
HP:0011506	Choroidal neovascularization	3426	CFI	ORPHA:75376
HP:0011506	Choroidal neovascularization	3426	CFI	OMIM:615439
HP:0011506	Choroidal neovascularization	3105	HLA-A	ORPHA:179
HP:0011506	Choroidal neovascularization	114902	C1QTNF5	ORPHA:67042
HP:0011506	Choroidal neovascularization	114902	C1QTNF5	OMIM:605670
HP:0011506	Choroidal neovascularization	64131	XYLT1	OMIM:264800
HP:0011506	Choroidal neovascularization	64132	XYLT2	OMIM:264800
HP:0011506	Choroidal neovascularization	368	ABCC6	OMIM:264800
HP:0011506	Choroidal neovascularization	368	ABCC6	ORPHA:51608
HP:0011506	Choroidal neovascularization	1181	CLCN2	OMIM:615651
HP:0011506	Choroidal neovascularization	5961	PRPH2	OMIM:169150
HP:0011506	Choroidal neovascularization	5961	PRPH2	OMIM:608161
HP:0011506	Choroidal neovascularization	5167	ENPP1	ORPHA:51608
HP:0011506	Choroidal neovascularization	7867	MAPKAPK3	OMIM:617111
HP:0011506	Choroidal neovascularization	189	AGXT	OMIM:259900
HP:0011506	Choroidal neovascularization	7078	TIMP3	ORPHA:59181
HP:0011506	Choroidal neovascularization	7123	CLEC3B	OMIM:619977
HP:0011506	Choroidal neovascularization	2201	FBN2	OMIM:616118
HP:0011506	Choroidal neovascularization	10516	FBLN5	OMIM:608895
HP:0011506	Choroidal neovascularization	348	APOE	OMIM:603075
HP:0011506	Choroidal neovascularization	83872	HMCN1	OMIM:603075
HP:0011506	Choroidal neovascularization	3078	CFHR1	OMIM:603075
HP:0011506	Choroidal neovascularization	10878	CFHR3	OMIM:603075
HP:0011506	Choroidal neovascularization	2192	FBLN1	ORPHA:404451
HP:0011507	Macular flecks	6785	ELOVL4	OMIM:600110
HP:0011508	Macular hole	3105	HLA-A	ORPHA:179
HP:0011508	Macular hole	5961	PRPH2	ORPHA:75377
HP:0011508	Macular hole	3000	GUCY2D	ORPHA:75377
HP:0011508	Macular hole	2978	GUCA1A	ORPHA:75377
HP:0011509	Macular hyperpigmentation	2202	EFEMP1	ORPHA:75376
HP:0011509	Macular hyperpigmentation	3075	CFH	ORPHA:75376
HP:0011509	Macular hyperpigmentation	3426	CFI	ORPHA:75376
HP:0011509	Macular hyperpigmentation	103	ADAR	ORPHA:41
HP:0011509	Macular hyperpigmentation	1406	CRX	OMIM:120970
HP:0011509	Macular hyperpigmentation	5076	PAX2	OMIM:120330
HP:0031941	Abnormal portal venous system morphology	9401	RECQL4	OMIM:218600
HP:0031941	Abnormal portal venous system morphology	4851	NOTCH1	OMIM:616028
HP:0031941	Abnormal portal venous system morphology	4352	MPL	ORPHA:729
HP:0031941	Abnormal portal venous system morphology	3717	JAK2	ORPHA:729
HP:0031941	Abnormal portal venous system morphology	54790	TET2	ORPHA:729
HP:0031941	Abnormal portal venous system morphology	4233	MET	ORPHA:33402
HP:0031941	Abnormal portal venous system morphology	1499	CTNNB1	ORPHA:33402
HP:0031941	Abnormal portal venous system morphology	462	SERPINC1	ORPHA:82
HP:0031941	Abnormal portal venous system morphology	6521	SLC4A1	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	9780	PIEZO1	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	3783	KCNN4	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	93183	PIGM	OMIM:610293
HP:0031941	Abnormal portal venous system morphology	10112	KIF20A	OMIM:619433
HP:0031944	Pleural thickening	29969	MDFIC	OMIM:620014
HP:0031944	Pleural thickening	10568	SLC34A2	ORPHA:60025
HP:0031944	Pleural thickening	29775	CARD10	OMIM:619632
HP:0031945	Elevated circulating N,N-dimethylglycine concentration	29958	DMGDH	OMIM:605850
HP:0031946	Elevated urinary N,N-dimethylglycine level	29958	DMGDH	OMIM:605850
HP:0031947	Tongue tremor	22880	MORC2	ORPHA:466768
HP:0031947	Tongue tremor	26011	TENM4	OMIM:616736
HP:0031947	Tongue tremor	4604	MYBPC1	OMIM:618524
HP:0011510	Drusen	7840	ALMS1	ORPHA:64
HP:0011510	Drusen	114902	C1QTNF5	ORPHA:67042
HP:0011510	Drusen	3617	IMPG1	OMIM:616151
HP:0011510	Drusen	83715	ESPN	OMIM:618632
HP:0011510	Drusen	5961	PRPH2	OMIM:608161
HP:0011510	Drusen	5961	PRPH2	ORPHA:75377
HP:0011510	Drusen	10516	FBLN5	OMIM:608895
HP:0011510	Drusen	1495	CTNNA1	OMIM:608970
HP:0011510	Drusen	2978	GUCA1A	ORPHA:75377
HP:0011510	Drusen	3000	GUCY2D	OMIM:204000
HP:0011510	Drusen	26022	TMEM98	OMIM:615972
HP:0011510	Drusen	9227	LRAT	ORPHA:364055
HP:0011510	Drusen	55812	SPATA7	ORPHA:364055
HP:0011510	Drusen	6121	RPE65	ORPHA:364055
HP:0011510	Drusen	167691	LCA5	ORPHA:364055
HP:0011510	Drusen	10594	PRPF8	OMIM:600059
HP:0011510	Drusen	26160	IFT172	OMIM:616394
HP:0011510	Drusen	64131	XYLT1	OMIM:264800
HP:0011510	Drusen	64132	XYLT2	OMIM:264800
HP:0011510	Drusen	368	ABCC6	OMIM:264800
HP:0011510	Drusen	83552	MFRP	OMIM:611040
HP:0011510	Drusen	2202	EFEMP1	ORPHA:75376
HP:0011510	Drusen	3075	CFH	ORPHA:75376
HP:0011510	Drusen	3426	CFI	ORPHA:75376
HP:0011510	Drusen	348	APOE	OMIM:603075
HP:0011510	Drusen	83872	HMCN1	OMIM:603075
HP:0011510	Drusen	3078	CFHR1	OMIM:603075
HP:0011510	Drusen	10878	CFHR3	OMIM:603075
HP:0011512	Hyperpigmentation of the fundus	4595	MUTYH	ORPHA:247798
HP:0011512	Hyperpigmentation of the fundus	324	APC	OMIM:175100
HP:0011512	Hyperpigmentation of the fundus	324	APC	ORPHA:247806
HP:0011512	Hyperpigmentation of the fundus	324	APC	ORPHA:261584
HP:0011512	Hyperpigmentation of the fundus	324	APC	ORPHA:79665
HP:0011512	Hyperpigmentation of the fundus	726	CAPN5	OMIM:193235
HP:0011512	Hyperpigmentation of the fundus	2202	EFEMP1	ORPHA:75376
HP:0011512	Hyperpigmentation of the fundus	2202	EFEMP1	OMIM:126600
HP:0011512	Hyperpigmentation of the fundus	3075	CFH	ORPHA:75376
HP:0011512	Hyperpigmentation of the fundus	3426	CFI	ORPHA:75376
HP:0011512	Hyperpigmentation of the fundus	5456	POU3F4	ORPHA:1435
HP:0011513	Retinal cavernous angioma	11235	PDCD10	ORPHA:221061
HP:0011513	Retinal cavernous angioma	83605	CCM2	ORPHA:221061
HP:0011513	Retinal cavernous angioma	889	KRIT1	ORPHA:221061
HP:0011514	Abnormality of binocular vision	26191	PTPN22	ORPHA:397
HP:0011514	Abnormality of binocular vision	3106	HLA-B	ORPHA:397
HP:0011514	Abnormality of binocular vision	3123	HLA-DRB1	ORPHA:397
HP:0011514	Abnormality of binocular vision	3123	HLA-DRB1	OMIM:126200
HP:0011514	Abnormality of binocular vision	8974	P4HA2	ORPHA:397
HP:0011514	Abnormality of binocular vision	5274	SERPINI1	OMIM:604218
HP:0011514	Abnormality of binocular vision	353116	RILPL1	OMIM:619790
HP:0011514	Abnormality of binocular vision	4287	ATXN3	OMIM:109150
HP:0011514	Abnormality of binocular vision	4287	ATXN3	ORPHA:276238
HP:0011514	Abnormality of binocular vision	4287	ATXN3	ORPHA:276244
HP:0011514	Abnormality of binocular vision	4287	ATXN3	ORPHA:276241
HP:0011514	Abnormality of binocular vision	4137	MAPT	OMIM:601104
HP:0011514	Abnormality of binocular vision	4791	NFKB2	ORPHA:293978
HP:0011514	Abnormality of binocular vision	9698	PUM1	OMIM:617931
HP:0011514	Abnormality of binocular vision	5428	POLG	OMIM:258450
HP:0011514	Abnormality of binocular vision	5428	POLG	OMIM:157640
HP:0011514	Abnormality of binocular vision	5428	POLG	OMIM:603041
HP:0011514	Abnormality of binocular vision	773	CACNA1A	OMIM:108500
HP:0011514	Abnormality of binocular vision	773	CACNA1A	ORPHA:569
HP:0011514	Abnormality of binocular vision	773	CACNA1A	ORPHA:97
HP:0011514	Abnormality of binocular vision	773	CACNA1A	ORPHA:98758
HP:0011514	Abnormality of binocular vision	6507	SLC1A3	ORPHA:209967
HP:0011514	Abnormality of binocular vision	6507	SLC1A3	OMIM:612656
HP:0011514	Abnormality of binocular vision	6712	SPTBN2	ORPHA:352403
HP:0011514	Abnormality of binocular vision	4568	MT-TL2	ORPHA:663
HP:0011514	Abnormality of binocular vision	4567	MT-TL1	ORPHA:663
HP:0011514	Abnormality of binocular vision	4570	MT-TN	ORPHA:663
HP:0011514	Abnormality of binocular vision	4574	MT-TS1	ORPHA:663
HP:0011514	Abnormality of binocular vision	4221	MEN1	ORPHA:2965
HP:0011514	Abnormality of binocular vision	64072	CDH23	ORPHA:2965
HP:0011514	Abnormality of binocular vision	64072	CDH23	ORPHA:91347
HP:0011514	Abnormality of binocular vision	9049	AIP	ORPHA:2965
HP:0011514	Abnormality of binocular vision	3736	KCNA1	ORPHA:37612
HP:0011514	Abnormality of binocular vision	4884	NPTX1	OMIM:620158
HP:0011514	Abnormality of binocular vision	7040	TGFB1	OMIM:131300
HP:0011514	Abnormality of binocular vision	55157	DARS2	ORPHA:137898
HP:0011514	Abnormality of binocular vision	2629	GBA1	ORPHA:411602
HP:0011514	Abnormality of binocular vision	23317	DNAJC13	ORPHA:411602
HP:0011514	Abnormality of binocular vision	1981	EIF4G1	ORPHA:411602
HP:0011514	Abnormality of binocular vision	55737	VPS35	ORPHA:411602
HP:0011514	Abnormality of binocular vision	120892	LRRK2	ORPHA:411602
HP:0011514	Abnormality of binocular vision	120892	LRRK2	ORPHA:2828
HP:0011514	Abnormality of binocular vision	26058	GIGYF2	ORPHA:411602
HP:0011514	Abnormality of binocular vision	6622	SNCA	ORPHA:411602
HP:0011514	Abnormality of binocular vision	6622	SNCA	ORPHA:2828
HP:0011514	Abnormality of binocular vision	6513	SLC2A1	OMIM:601042
HP:0011514	Abnormality of binocular vision	6513	SLC2A1	ORPHA:53583
HP:0011514	Abnormality of binocular vision	5621	PRNP	OMIM:600072
HP:0011514	Abnormality of binocular vision	112476	PRRT2	ORPHA:569
HP:0011514	Abnormality of binocular vision	6323	SCN1A	ORPHA:569
HP:0011514	Abnormality of binocular vision	477	ATP1A2	ORPHA:569
HP:0011514	Abnormality of binocular vision	477	ATP1A2	OMIM:602481
HP:0011514	Abnormality of binocular vision	7276	TTR	OMIM:105210
HP:0011514	Abnormality of binocular vision	7156	TOP3A	OMIM:618098
HP:0011514	Abnormality of binocular vision	1200	TPP1	OMIM:609270
HP:0011514	Abnormality of binocular vision	1200	TPP1	ORPHA:284324
HP:0011514	Abnormality of binocular vision	54832	VPS13C	ORPHA:2828
HP:0011514	Abnormality of binocular vision	11315	PARK7	ORPHA:2828
HP:0011514	Abnormality of binocular vision	7345	UCHL1	ORPHA:2828
HP:0011514	Abnormality of binocular vision	27429	HTRA2	ORPHA:2828
HP:0011514	Abnormality of binocular vision	9829	DNAJC6	ORPHA:2828
HP:0011514	Abnormality of binocular vision	5420	PODXL	ORPHA:2828
HP:0011514	Abnormality of binocular vision	65018	PINK1	ORPHA:2828
HP:0011514	Abnormality of binocular vision	8867	SYNJ1	ORPHA:2828
HP:0011514	Abnormality of binocular vision	5071	PRKN	ORPHA:2828
HP:0011514	Abnormality of binocular vision	10528	NOP56	ORPHA:276198
HP:0011514	Abnormality of binocular vision	4644	MYO5A	ORPHA:79476
HP:0011514	Abnormality of binocular vision	2259	FGF14	OMIM:620174
HP:0011514	Abnormality of binocular vision	3752	KCND3	ORPHA:98772
HP:0011514	Abnormality of binocular vision	339453	TMEM240	ORPHA:98773
HP:0011514	Abnormality of binocular vision	54902	TTC19	OMIM:615157
HP:0011514	Abnormality of binocular vision	1890	TYMP	OMIM:603041
HP:0011514	Abnormality of binocular vision	6329	SCN4A	ORPHA:99734
HP:0011514	Abnormality of binocular vision	6329	SCN4A	ORPHA:98913
HP:0011514	Abnormality of binocular vision	92667	MGME1	ORPHA:352447
HP:0011514	Abnormality of binocular vision	6011	GRK1	ORPHA:75382
HP:0011514	Abnormality of binocular vision	6295	SAG	ORPHA:75382
HP:0011514	Abnormality of binocular vision	4665	NAB2	ORPHA:2126
HP:0011514	Abnormality of binocular vision	6778	STAT6	ORPHA:2126
HP:0011514	Abnormality of binocular vision	219285	SAMD9L	OMIM:619806
HP:0011514	Abnormality of binocular vision	2068	ERCC2	ORPHA:220295
HP:0011514	Abnormality of binocular vision	2073	ERCC5	ORPHA:220295
HP:0011514	Abnormality of binocular vision	2072	ERCC4	ORPHA:220295
HP:0011514	Abnormality of binocular vision	2071	ERCC3	ORPHA:220295
HP:0011514	Abnormality of binocular vision	60482	SLC5A7	ORPHA:98914
HP:0011514	Abnormality of binocular vision	4649	MYO9A	ORPHA:98914
HP:0011514	Abnormality of binocular vision	1305	COL13A1	ORPHA:98914
HP:0011514	Abnormality of binocular vision	1305	COL13A1	ORPHA:98913
HP:0011514	Abnormality of binocular vision	1103	CHAT	ORPHA:98914
HP:0011514	Abnormality of binocular vision	6576	SLC25A1	ORPHA:98914
HP:0011514	Abnormality of binocular vision	6843	VAMP1	ORPHA:98914
HP:0011514	Abnormality of binocular vision	375790	AGRN	ORPHA:98914
HP:0011514	Abnormality of binocular vision	375790	AGRN	ORPHA:98913
HP:0011514	Abnormality of binocular vision	127833	SYT2	ORPHA:98914
HP:0011514	Abnormality of binocular vision	6572	SLC18A3	ORPHA:98914
HP:0011514	Abnormality of binocular vision	6616	SNAP25	ORPHA:98914
HP:0011514	Abnormality of binocular vision	1134	CHRNA1	ORPHA:98913
HP:0011514	Abnormality of binocular vision	4038	LRP4	ORPHA:98913
HP:0011514	Abnormality of binocular vision	1140	CHRNB1	ORPHA:98913
HP:0011514	Abnormality of binocular vision	1144	CHRND	ORPHA:98913
HP:0011514	Abnormality of binocular vision	1145	CHRNE	ORPHA:98913
HP:0011514	Abnormality of binocular vision	4593	MUSK	ORPHA:98913
HP:0011514	Abnormality of binocular vision	5913	RAPSN	ORPHA:98913
HP:0011514	Abnormality of binocular vision	221264	AK9	ORPHA:98913
HP:0011514	Abnormality of binocular vision	285489	DOK7	ORPHA:98913
HP:0011514	Abnormality of binocular vision	55129	ANO10	ORPHA:284289
HP:0011514	Abnormality of binocular vision	8913	CACNA1G	ORPHA:458803
HP:0011514	Abnormality of binocular vision	8913	CACNA1G	OMIM:616795
HP:0011514	Abnormality of binocular vision	6389	SDHA	OMIM:619259
HP:0011514	Abnormality of binocular vision	22943	DKK1	ORPHA:268882
HP:0011514	Abnormality of binocular vision	54936	ADPRS	OMIM:618170
HP:0011514	Abnormality of binocular vision	4771	NF2	ORPHA:637
HP:0011514	Abnormality of binocular vision	3119	HLA-DQB1	OMIM:126200
HP:0011514	Abnormality of binocular vision	5133	PDCD1	OMIM:126200
HP:0011516	Achromatopsia	22926	ATF6	OMIM:616517
HP:0011516	Achromatopsia	51594	NBAS	OMIM:614800
HP:0011516	Achromatopsia	1261	CNGA3	OMIM:216900
HP:0011516	Achromatopsia	54714	CNGB3	OMIM:262300
HP:0011516	Achromatopsia	2780	GNAT2	OMIM:613856
HP:0011517	Cone monochromacy	2652	OPN1MW	ORPHA:16
HP:0011517	Cone monochromacy	2652	OPN1MW	OMIM:303700
HP:0011517	Cone monochromacy	5956	OPN1LW	ORPHA:16
HP:0011517	Cone monochromacy	5956	OPN1LW	OMIM:303700
HP:0011519	Anomalous trichromacy	282809	POC1B	OMIM:615973
HP:0011519	Anomalous trichromacy	10002	NR2E3	OMIM:611131
HP:0011519	Anomalous trichromacy	10059	DNM1L	OMIM:610708
HP:0011519	Anomalous trichromacy	611	OPN1SW	OMIM:190900
HP:0011519	Anomalous trichromacy	611	OPN1SW	ORPHA:88629
HP:0011519	Anomalous trichromacy	5950	RBP4	OMIM:615147
HP:0011519	Anomalous trichromacy	4976	OPA1	OMIM:125250
HP:0011519	Anomalous trichromacy	4976	OPA1	OMIM:165500
HP:0011519	Anomalous trichromacy	114902	C1QTNF5	ORPHA:67042
HP:0011519	Anomalous trichromacy	3000	GUCY2D	OMIM:618555
HP:0011519	Anomalous trichromacy	80207	OPA3	ORPHA:67036
HP:0011519	Anomalous trichromacy	2652	OPN1MW	OMIM:303800
HP:0011519	Anomalous trichromacy	5956	OPN1LW	OMIM:303900
HP:0031950	Usual interstitial pneumonia	7015	TERT	OMIM:614742
HP:0031950	Usual interstitial pneumonia	7015	TERT	OMIM:178500
HP:0031950	Usual interstitial pneumonia	51750	RTEL1	OMIM:616373
HP:0031950	Usual interstitial pneumonia	6440	SFTPC	OMIM:178500
HP:0031950	Usual interstitial pneumonia	727897	MUC5B	OMIM:178500
HP:0031950	Usual interstitial pneumonia	729238	SFTPA2	OMIM:178500
HP:0031950	Usual interstitial pneumonia	21	ABCA3	OMIM:610921
HP:0031950	Usual interstitial pneumonia	653509	SFTPA1	OMIM:619611
HP:0031951	Nocturnal seizures	1137	CHRNA4	ORPHA:98784
HP:0031951	Nocturnal seizures	1135	CHRNA2	ORPHA:98784
HP:0031951	Nocturnal seizures	1135	CHRNA2	OMIM:610353
HP:0031951	Nocturnal seizures	57010	CABP4	ORPHA:98784
HP:0031951	Nocturnal seizures	1141	CHRNB2	ORPHA:98784
HP:0031951	Nocturnal seizures	57582	KCNT1	ORPHA:98784
HP:0031951	Nocturnal seizures	1392	CRH	ORPHA:98784
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:98784
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:101046
HP:0031951	Nocturnal seizures	9681	DEPDC5	OMIM:604364
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:98820
HP:0031951	Nocturnal seizures	5649	RELN	ORPHA:101046
HP:0031951	Nocturnal seizures	9211	LGI1	ORPHA:101046
HP:0031951	Nocturnal seizures	112939	NACC1	OMIM:617393
HP:0031951	Nocturnal seizures	6711	SPTBN1	OMIM:619475
HP:0031951	Nocturnal seizures	2741	GLRA1	OMIM:149400
HP:0031951	Nocturnal seizures	10243	GPHN	OMIM:149400
HP:0031951	Nocturnal seizures	6304	SATB1	OMIM:619229
HP:0031951	Nocturnal seizures	2903	GRIN2A	ORPHA:98818
HP:0031951	Nocturnal seizures	3781	KCNN2	OMIM:619725
HP:0031951	Nocturnal seizures	8131	NPRL3	ORPHA:98820
HP:0031951	Nocturnal seizures	10641	NPRL2	ORPHA:98820
HP:0001300	Parkinsonism	6622	SNCA	OMIM:605543
HP:0001300	Parkinsonism	6622	SNCA	ORPHA:411602
HP:0001300	Parkinsonism	6622	SNCA	OMIM:127750
HP:0001300	Parkinsonism	6622	SNCA	ORPHA:171695
HP:0001300	Parkinsonism	6622	SNCA	OMIM:168601
HP:0001300	Parkinsonism	4287	ATXN3	OMIM:109150
HP:0001300	Parkinsonism	4137	MAPT	OMIM:601104
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:240071
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:240112
HP:0001300	Parkinsonism	4137	MAPT	OMIM:600274
HP:0001300	Parkinsonism	4137	MAPT	OMIM:260540
HP:0001300	Parkinsonism	4137	MAPT	OMIM:168600
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:100070
HP:0001300	Parkinsonism	10159	ATP6AP2	OMIM:300911
HP:0001300	Parkinsonism	10159	ATP6AP2	OMIM:300423
HP:0001300	Parkinsonism	2521	FUS	OMIM:614782
HP:0001300	Parkinsonism	2521	FUS	ORPHA:275872
HP:0001300	Parkinsonism	2521	FUS	ORPHA:300605
HP:0001300	Parkinsonism	23516	SLC39A14	OMIM:617013
HP:0001300	Parkinsonism	23516	SLC39A14	ORPHA:521406
HP:0001300	Parkinsonism	54832	VPS13C	OMIM:616840
HP:0001300	Parkinsonism	400916	CHCHD10	OMIM:615911
HP:0001300	Parkinsonism	400916	CHCHD10	ORPHA:275872
HP:0001300	Parkinsonism	5428	POLG	OMIM:258450
HP:0001300	Parkinsonism	5428	POLG	OMIM:157640
HP:0001300	Parkinsonism	4353	MPO	OMIM:104300
HP:0001300	Parkinsonism	4846	NOS3	OMIM:104300
HP:0001300	Parkinsonism	3077	HFE	OMIM:104300
HP:0001300	Parkinsonism	351	APP	OMIM:104300
HP:0001300	Parkinsonism	351	APP	ORPHA:1020
HP:0001300	Parkinsonism	5328	PLAU	OMIM:104300
HP:0001300	Parkinsonism	9256	TSPOAP1	ORPHA:101150
HP:0001300	Parkinsonism	7054	TH	ORPHA:101150
HP:0001300	Parkinsonism	7054	TH	OMIM:605407
HP:0001300	Parkinsonism	8878	SQSTM1	ORPHA:275872
HP:0001300	Parkinsonism	7415	VCP	ORPHA:275872
HP:0001300	Parkinsonism	7415	VCP	ORPHA:329478
HP:0001300	Parkinsonism	7415	VCP	ORPHA:100070
HP:0001300	Parkinsonism	23435	TARDBP	ORPHA:275872
HP:0001300	Parkinsonism	29110	TBK1	ORPHA:275872
HP:0001300	Parkinsonism	6571	SLC18A2	ORPHA:352649
HP:0001300	Parkinsonism	6571	SLC18A2	OMIM:618049
HP:0001300	Parkinsonism	27235	COQ2	OMIM:146500
HP:0001300	Parkinsonism	27235	COQ2	ORPHA:98933
HP:0001300	Parkinsonism	27235	COQ2	ORPHA:227510
HP:0001300	Parkinsonism	478	ATP1A3	OMIM:128235
HP:0001300	Parkinsonism	478	ATP1A3	ORPHA:71517
HP:0001300	Parkinsonism	5521	PPP2R2B	OMIM:604326
HP:0001300	Parkinsonism	5521	PPP2R2B	ORPHA:98762
HP:0001300	Parkinsonism	1639	DCTN1	ORPHA:178509
HP:0001300	Parkinsonism	1639	DCTN1	OMIM:168605
HP:0001300	Parkinsonism	6531	SLC6A3	ORPHA:238455
HP:0001300	Parkinsonism	6531	SLC6A3	OMIM:613135
HP:0001300	Parkinsonism	1822	ATN1	OMIM:125370
HP:0001300	Parkinsonism	84909	AOPEP	OMIM:619565
HP:0001300	Parkinsonism	56521	DNAJC12	OMIM:617384
HP:0001300	Parkinsonism	6311	ATXN2	OMIM:183090
HP:0001300	Parkinsonism	6311	ATXN2	ORPHA:98756
HP:0001300	Parkinsonism	6311	ATXN2	OMIM:168600
HP:0001300	Parkinsonism	5155	PDGFB	OMIM:615483
HP:0001300	Parkinsonism	5155	PDGFB	OMIM:213600
HP:0001300	Parkinsonism	5575	PRKAR1B	ORPHA:412066
HP:0001300	Parkinsonism	5159	PDGFRB	OMIM:615007
HP:0001300	Parkinsonism	5159	PDGFRB	OMIM:213600
HP:0001300	Parkinsonism	5610	EIF2AK2	OMIM:618877
HP:0001300	Parkinsonism	3781	KCNN2	OMIM:619725
HP:0001300	Parkinsonism	11152	WDR45	ORPHA:329284
HP:0001300	Parkinsonism	11152	WDR45	OMIM:300894
HP:0001300	Parkinsonism	9829	DNAJC6	OMIM:615528
HP:0001300	Parkinsonism	54822	TRPM7	OMIM:105500
HP:0001300	Parkinsonism	5071	PRKN	OMIM:600116
HP:0001300	Parkinsonism	8575	PRKRA	ORPHA:210571
HP:0001300	Parkinsonism	8575	PRKRA	OMIM:612067
HP:0001300	Parkinsonism	4204	MECP2	OMIM:300055
HP:0001300	Parkinsonism	4204	MECP2	ORPHA:3077
HP:0001300	Parkinsonism	8867	SYNJ1	OMIM:615530
HP:0001300	Parkinsonism	7343	UBTF	OMIM:617672
HP:0001300	Parkinsonism	55737	VPS35	OMIM:614203
HP:0001300	Parkinsonism	55737	VPS35	ORPHA:411602
HP:0001300	Parkinsonism	10352	WARS2	OMIM:619738
HP:0001300	Parkinsonism	2629	GBA1	ORPHA:411602
HP:0001300	Parkinsonism	2629	GBA1	OMIM:127750
HP:0001300	Parkinsonism	2629	GBA1	OMIM:168600
HP:0001300	Parkinsonism	23317	DNAJC13	ORPHA:411602
HP:0001300	Parkinsonism	1981	EIF4G1	ORPHA:411602
HP:0001300	Parkinsonism	1981	EIF4G1	OMIM:614251
HP:0001300	Parkinsonism	120892	LRRK2	ORPHA:411602
HP:0001300	Parkinsonism	120892	LRRK2	OMIM:607060
HP:0001300	Parkinsonism	26058	GIGYF2	ORPHA:411602
HP:0001300	Parkinsonism	10939	AFG3L2	OMIM:610246
HP:0001300	Parkinsonism	10939	AFG3L2	ORPHA:101109
HP:0001300	Parkinsonism	6575	SLC20A2	OMIM:213600
HP:0001300	Parkinsonism	116442	RAB39B	OMIM:311510
HP:0001300	Parkinsonism	2332	FMR1	ORPHA:93256
HP:0001300	Parkinsonism	2332	FMR1	OMIM:300623
HP:0001300	Parkinsonism	56652	TWNK	OMIM:609286
HP:0001300	Parkinsonism	23400	ATP13A2	OMIM:606693
HP:0001300	Parkinsonism	23400	ATP13A2	ORPHA:306674
HP:0001300	Parkinsonism	23400	ATP13A2	OMIM:617225
HP:0001300	Parkinsonism	1130	LYST	ORPHA:167
HP:0001300	Parkinsonism	10273	STUB1	OMIM:618093
HP:0001300	Parkinsonism	5621	PRNP	OMIM:606688
HP:0001300	Parkinsonism	5621	PRNP	OMIM:137440
HP:0001300	Parkinsonism	83636	C19orf12	OMIM:614298
HP:0001300	Parkinsonism	80208	SPG11	ORPHA:2822
HP:0001300	Parkinsonism	80208	SPG11	ORPHA:300605
HP:0001300	Parkinsonism	1201	CLN3	OMIM:204200
HP:0001300	Parkinsonism	23230	VPS13A	ORPHA:2388
HP:0001300	Parkinsonism	23230	VPS13A	OMIM:200150
HP:0001300	Parkinsonism	8398	PLA2G6	OMIM:612953
HP:0001300	Parkinsonism	9907	AP5Z1	OMIM:613647
HP:0001300	Parkinsonism	9907	AP5Z1	ORPHA:306511
HP:0001300	Parkinsonism	57338	JPH3	ORPHA:98934
HP:0001300	Parkinsonism	6908	TBP	OMIM:607136
HP:0001300	Parkinsonism	6908	TBP	ORPHA:98759
HP:0001300	Parkinsonism	6908	TBP	OMIM:168600
HP:0001300	Parkinsonism	5092	PCBD1	ORPHA:1578
HP:0001300	Parkinsonism	2512	FTL	OMIM:606159
HP:0001300	Parkinsonism	2512	FTL	ORPHA:157846
HP:0001300	Parkinsonism	65018	PINK1	OMIM:605909
HP:0001300	Parkinsonism	58494	JAM2	OMIM:618824
HP:0001300	Parkinsonism	1593	CYP27A1	ORPHA:909
HP:0001300	Parkinsonism	2643	GCH1	ORPHA:98808
HP:0001300	Parkinsonism	4929	NR4A2	ORPHA:98808
HP:0001300	Parkinsonism	4929	NR4A2	OMIM:619911
HP:0001300	Parkinsonism	4929	NR4A2	OMIM:168600
HP:0001300	Parkinsonism	3615	IMPDH2	ORPHA:98808
HP:0001300	Parkinsonism	10846	PDE10A	OMIM:616922
HP:0001300	Parkinsonism	6335	SCN9A	ORPHA:33069
HP:0001300	Parkinsonism	6326	SCN2A	ORPHA:33069
HP:0001300	Parkinsonism	2554	GABRA1	ORPHA:33069
HP:0001300	Parkinsonism	6323	SCN1A	ORPHA:33069
HP:0001300	Parkinsonism	6324	SCN1B	ORPHA:33069
HP:0001300	Parkinsonism	57526	PCDH19	ORPHA:33069
HP:0001300	Parkinsonism	2566	GABRG2	ORPHA:33069
HP:0001300	Parkinsonism	203228	C9orf72	OMIM:105550
HP:0001300	Parkinsonism	80025	PANK2	OMIM:234200
HP:0001300	Parkinsonism	80025	PANK2	ORPHA:216873
HP:0001300	Parkinsonism	2896	GRN	OMIM:607485
HP:0001300	Parkinsonism	2896	GRN	ORPHA:100070
HP:0001300	Parkinsonism	10280	SIGMAR1	ORPHA:300605
HP:0001300	Parkinsonism	10558	SPTLC1	ORPHA:300605
HP:0001300	Parkinsonism	57679	ALS2	ORPHA:300605
HP:0001300	Parkinsonism	9213	XPR1	OMIM:616413
HP:0001300	Parkinsonism	1356	CP	ORPHA:48818
HP:0001300	Parkinsonism	57462	MYORG	OMIM:618317
HP:0001300	Parkinsonism	6620	SNCB	OMIM:127750
HP:0001300	Parkinsonism	4854	NOTCH3	ORPHA:136
HP:0001300	Parkinsonism	5663	PSEN1	OMIM:600274
HP:0001300	Parkinsonism	5663	PSEN1	ORPHA:1020
HP:0001300	Parkinsonism	5663	PSEN1	ORPHA:100070
HP:0001300	Parkinsonism	80347	COASY	ORPHA:397725
HP:0001300	Parkinsonism	1436	CSF1R	OMIM:221820
HP:0001300	Parkinsonism	5805	PTS	OMIM:261640
HP:0001300	Parkinsonism	7143	TNR	OMIM:619653
HP:0001300	Parkinsonism	847	CAT	ORPHA:926
HP:0001300	Parkinsonism	5664	PSEN2	ORPHA:1020
HP:0001300	Parkinsonism	10452	TOMM40	ORPHA:1020
HP:0001300	Parkinsonism	54209	TREM2	ORPHA:1020
HP:0001300	Parkinsonism	54209	TREM2	ORPHA:100070
HP:0001300	Parkinsonism	10347	ABCA7	ORPHA:1020
HP:0001300	Parkinsonism	6653	SORL1	ORPHA:1020
HP:0001300	Parkinsonism	80331	DNAJC5	OMIM:162350
HP:0001300	Parkinsonism	3798	KIF5A	ORPHA:100991
HP:0001300	Parkinsonism	3798	KIF5A	OMIM:604187
HP:0001300	Parkinsonism	55532	SLC30A10	OMIM:613280
HP:0001300	Parkinsonism	25793	FBXO7	ORPHA:171695
HP:0001300	Parkinsonism	25793	FBXO7	OMIM:260300
HP:0001300	Parkinsonism	2747	GLUD2	OMIM:168600
HP:0001300	Parkinsonism	126	ADH1C	OMIM:168600
HP:0001300	Parkinsonism	4576	MT-TT	OMIM:168600
HP:0001300	Parkinsonism	9627	SNCAIP	OMIM:168600
HP:0001300	Parkinsonism	6315	ATXN8OS	OMIM:168600
HP:0001300	Parkinsonism	348	APOE	OMIM:104310
HP:0001300	Parkinsonism	339453	TMEM240	OMIM:607454
HP:0001300	Parkinsonism	25978	CHMP2B	ORPHA:100070
HP:0001300	Parkinsonism	54664	TMEM106B	ORPHA:100070
HP:0001300	Parkinsonism	5660	PSAP	OMIM:619491
HP:0001300	Parkinsonism	7384	UQCRC1	OMIM:619279
HP:0001300	Parkinsonism	6872	TAF1	ORPHA:53351
HP:0001300	Parkinsonism	6872	TAF1	OMIM:314250
HP:0001300	Parkinsonism	11315	PARK7	OMIM:606324
HP:0001300	Parkinsonism	7084	TK2	ORPHA:254886
HP:0001300	Parkinsonism	51142	CHCHD2	OMIM:616710
HP:0001300	Parkinsonism	27429	HTRA2	OMIM:610297
HP:0001300	Parkinsonism	7345	UCHL1	OMIM:613643
HP:0001300	Parkinsonism	540	ATP7B	OMIM:277900
HP:0001301	Chronic sensorineural polyneuropathy	340075	ARSI	ORPHA:401815
HP:0001302	Pachygyria	4750	NEK1	OMIM:263520
HP:0001302	Pachygyria	2879	GPX4	ORPHA:93317
HP:0001302	Pachygyria	26128	KIFBP	OMIM:609460
HP:0001302	Pachygyria	26128	KIFBP	ORPHA:66629
HP:0001302	Pachygyria	100151683	RNU4ATAC	OMIM:210710
HP:0001302	Pachygyria	2290	FOXG1	OMIM:613454
HP:0001302	Pachygyria	23417	MLYCD	OMIM:248360
HP:0001302	Pachygyria	55624	POMGNT1	OMIM:253280
HP:0001302	Pachygyria	55624	POMGNT1	ORPHA:899
HP:0001302	Pachygyria	84942	WDR73	OMIM:251300
HP:0001302	Pachygyria	84942	WDR73	ORPHA:2065
HP:0001302	Pachygyria	8496	PPFIBP1	OMIM:620024
HP:0001302	Pachygyria	50814	NSDHL	ORPHA:251383
HP:0001302	Pachygyria	50814	NSDHL	OMIM:300831
HP:0001302	Pachygyria	80232	WDR26	ORPHA:513456
HP:0001302	Pachygyria	387119	CEP85L	OMIM:618873
HP:0001302	Pachygyria	387119	CEP85L	ORPHA:572013
HP:0001302	Pachygyria	10300	KATNB1	OMIM:616212
HP:0001302	Pachygyria	9342	SNAP29	ORPHA:66631
HP:0001302	Pachygyria	9342	SNAP29	OMIM:609528
HP:0001302	Pachygyria	5290	PIK3CA	ORPHA:99802
HP:0001302	Pachygyria	2475	MTOR	ORPHA:99802
HP:0001302	Pachygyria	10000	AKT3	ORPHA:99802
HP:0001302	Pachygyria	54820	NDE1	OMIM:605013
HP:0001302	Pachygyria	7846	TUBA1A	OMIM:611603
HP:0001302	Pachygyria	7846	TUBA1A	ORPHA:467166
HP:0001302	Pachygyria	7846	TUBA1A	ORPHA:171680
HP:0001302	Pachygyria	3908	LAMA2	ORPHA:258
HP:0001302	Pachygyria	29954	POMT2	OMIM:236670
HP:0001302	Pachygyria	29954	POMT2	ORPHA:899
HP:0001302	Pachygyria	29954	POMT2	OMIM:613150
HP:0001302	Pachygyria	9215	LARGE1	OMIM:236670
HP:0001302	Pachygyria	9215	LARGE1	ORPHA:899
HP:0001302	Pachygyria	9215	LARGE1	OMIM:608840
HP:0001302	Pachygyria	79147	FKRP	OMIM:236670
HP:0001302	Pachygyria	79147	FKRP	ORPHA:899
HP:0001302	Pachygyria	79147	FKRP	OMIM:606612
HP:0001302	Pachygyria	79147	FKRP	ORPHA:370980
HP:0001302	Pachygyria	79147	FKRP	OMIM:613153
HP:0001302	Pachygyria	10585	POMT1	OMIM:236670
HP:0001302	Pachygyria	10585	POMT1	ORPHA:899
HP:0001302	Pachygyria	10585	POMT1	ORPHA:370980
HP:0001302	Pachygyria	2218	FKTN	OMIM:236670
HP:0001302	Pachygyria	2218	FKTN	ORPHA:899
HP:0001302	Pachygyria	2218	FKTN	ORPHA:370980
HP:0001302	Pachygyria	2218	FKTN	OMIM:253800
HP:0001302	Pachygyria	84892	POMGNT2	ORPHA:899
HP:0001302	Pachygyria	148789	B3GALNT2	ORPHA:899
HP:0001302	Pachygyria	1282	COL4A1	ORPHA:899
HP:0001302	Pachygyria	729920	CRPPA	ORPHA:899
HP:0001302	Pachygyria	729920	CRPPA	ORPHA:370980
HP:0001302	Pachygyria	729920	CRPPA	OMIM:614643
HP:0001302	Pachygyria	10329	RXYLT1	ORPHA:899
HP:0001302	Pachygyria	1605	DAG1	ORPHA:899
HP:0001302	Pachygyria	11041	B4GAT1	ORPHA:899
HP:0001302	Pachygyria	84197	POMK	ORPHA:899
HP:0001302	Pachygyria	23499	MACF1	ORPHA:572013
HP:0001302	Pachygyria	23499	MACF1	OMIM:618325
HP:0001302	Pachygyria	170302	ARX	ORPHA:452
HP:0001302	Pachygyria	170302	ARX	OMIM:300215
HP:0001302	Pachygyria	170302	ARX	ORPHA:1934
HP:0001302	Pachygyria	284403	WDR62	OMIM:604317
HP:0001302	Pachygyria	284403	WDR62	ORPHA:2512
HP:0001302	Pachygyria	4784	NFIX	OMIM:602535
HP:0001302	Pachygyria	347733	TUBB2B	ORPHA:467166
HP:0001302	Pachygyria	347733	TUBB2B	ORPHA:300573
HP:0001302	Pachygyria	347733	TUBB2B	OMIM:610031
HP:0001302	Pachygyria	10381	TUBB3	ORPHA:467166
HP:0001302	Pachygyria	4001	LMNB1	OMIM:619179
HP:0001302	Pachygyria	56915	EXOSC5	OMIM:619576
HP:0001302	Pachygyria	7283	TUBG1	OMIM:615412
HP:0001302	Pachygyria	23522	KAT6B	OMIM:606170
HP:0001302	Pachygyria	1778	DYNC1H1	OMIM:614563
HP:0001302	Pachygyria	3796	KIF2A	OMIM:615411
HP:0001302	Pachygyria	7436	VLDLR	OMIM:224050
HP:0001302	Pachygyria	10716	TBR1	OMIM:606053
HP:0001302	Pachygyria	1641	DCX	OMIM:300067
HP:0001302	Pachygyria	1641	DCX	ORPHA:2148
HP:0001302	Pachygyria	9896	FIG4	ORPHA:3472
HP:0001302	Pachygyria	9896	FIG4	OMIM:216340
HP:0001302	Pachygyria	55697	VAC14	ORPHA:3472
HP:0001302	Pachygyria	79600	TCTN1	OMIM:614173
HP:0001302	Pachygyria	545	ATR	OMIM:210600
HP:0001302	Pachygyria	8642	DCHS1	OMIM:601390
HP:0001302	Pachygyria	55644	OSGEP	OMIM:617729
HP:0001302	Pachygyria	55644	OSGEP	ORPHA:2065
HP:0001302	Pachygyria	2313	FLI1	ORPHA:2308
HP:0001302	Pachygyria	60	ACTB	OMIM:243310
HP:0001302	Pachygyria	60	ACTB	ORPHA:2995
HP:0001302	Pachygyria	71	ACTG1	OMIM:614583
HP:0001302	Pachygyria	71	ACTG1	ORPHA:2995
HP:0001302	Pachygyria	81689	ISCA1	OMIM:617613
HP:0001302	Pachygyria	9508	ADAMTS3	ORPHA:2136
HP:0001302	Pachygyria	147372	CCBE1	ORPHA:2136
HP:0001302	Pachygyria	147372	CCBE1	OMIM:235510
HP:0001302	Pachygyria	79633	FAT4	ORPHA:2136
HP:0001302	Pachygyria	51002	TPRKB	OMIM:617731
HP:0001302	Pachygyria	51002	TPRKB	ORPHA:2065
HP:0001302	Pachygyria	57514	ARHGAP31	OMIM:100300
HP:0001302	Pachygyria	5828	PEX2	OMIM:614866
HP:0001302	Pachygyria	25914	RTTN	ORPHA:468631
HP:0001302	Pachygyria	23545	ATP6V0A2	OMIM:219200
HP:0001302	Pachygyria	23545	ATP6V0A2	ORPHA:357074
HP:0001302	Pachygyria	1457	CSNK2A1	OMIM:617062
HP:0001302	Pachygyria	5162	PDHB	ORPHA:255138
HP:0001302	Pachygyria	1718	DHCR24	ORPHA:35107
HP:0001302	Pachygyria	9326	ZNHIT3	OMIM:260565
HP:0001302	Pachygyria	5192	PEX10	OMIM:614870
HP:0001302	Pachygyria	84340	GFM2	OMIM:618397
HP:0001302	Pachygyria	10319	LAMC3	OMIM:614115
HP:0001302	Pachygyria	79867	TCTN2	OMIM:616654
HP:0001302	Pachygyria	55704	CCDC88A	OMIM:617507
HP:0001302	Pachygyria	5591	PRKDC	OMIM:615966
HP:0001302	Pachygyria	100506658	OCLN	OMIM:251290
HP:0001302	Pachygyria	5296	PIK3R2	OMIM:603387
HP:0001302	Pachygyria	4677	NARS1	OMIM:619091
HP:0001302	Pachygyria	523	ATP6V1A	ORPHA:357074
HP:0001302	Pachygyria	529	ATP6V1E1	ORPHA:357074
HP:0001302	Pachygyria	10463	SLC30A9	OMIM:617595
HP:0001302	Pachygyria	23219	FBXO28	OMIM:619777
HP:0001302	Pachygyria	55005	RMND1	OMIM:614922
HP:0001302	Pachygyria	22930	RAB3GAP1	ORPHA:2510
HP:0001302	Pachygyria	25782	RAB3GAP2	ORPHA:2510
HP:0001302	Pachygyria	22931	RAB18	ORPHA:2510
HP:0001302	Pachygyria	128637	TBC1D20	ORPHA:2510
HP:0001302	Pachygyria	1376	CPT2	ORPHA:228308
HP:0001302	Pachygyria	79087	ALG12	ORPHA:79324
HP:0001302	Pachygyria	9276	COPB2	ORPHA:2512
HP:0001302	Pachygyria	11113	CIT	ORPHA:2512
HP:0001302	Pachygyria	9928	KIF14	ORPHA:2512
HP:0001302	Pachygyria	22995	CEP152	ORPHA:2512
HP:0001302	Pachygyria	55262	TRAPPC14	ORPHA:2512
HP:0001302	Pachygyria	163786	SASS6	ORPHA:2512
HP:0001302	Pachygyria	29920	PYCR2	ORPHA:2512
HP:0001302	Pachygyria	84879	MFSD2A	ORPHA:2512
HP:0001302	Pachygyria	4176	MCM7	ORPHA:2512
HP:0001302	Pachygyria	80254	CEP63	ORPHA:2512
HP:0001302	Pachygyria	29081	METTL5	ORPHA:2512
HP:0001302	Pachygyria	23310	NCAPD3	ORPHA:2512
HP:0001302	Pachygyria	55755	CDK5RAP2	ORPHA:2512
HP:0001302	Pachygyria	79648	MCPH1	ORPHA:2512
HP:0001302	Pachygyria	6491	STIL	ORPHA:2512
HP:0001302	Pachygyria	23141	ANKLE2	ORPHA:2512
HP:0001302	Pachygyria	259266	ASPM	ORPHA:2512
HP:0001302	Pachygyria	7109	TRAPPC10	ORPHA:2512
HP:0001302	Pachygyria	1911	PHC1	ORPHA:2512
HP:0001302	Pachygyria	6884	TAF13	ORPHA:2512
HP:0001302	Pachygyria	9662	CEP135	ORPHA:2512
HP:0001302	Pachygyria	55835	CENPJ	ORPHA:2512
HP:0001302	Pachygyria	57082	KNL1	ORPHA:2512
HP:0001302	Pachygyria	1021	CDK6	ORPHA:2512
HP:0001302	Pachygyria	84978	FRMD5	OMIM:620094
HP:0001302	Pachygyria	51075	TMX2	OMIM:618730
HP:0001302	Pachygyria	1496	CTNNA2	OMIM:618174
HP:0001302	Pachygyria	8738	CRADD	OMIM:614499
HP:0001302	Pachygyria	85378	TUBGCP6	OMIM:251270
HP:0001302	Pachygyria	10844	TUBGCP2	OMIM:618737
HP:0001302	Pachygyria	55367	PIDD1	OMIM:619827
HP:0001302	Pachygyria	57122	NUP107	ORPHA:2065
HP:0001302	Pachygyria	10785	WDR4	ORPHA:2065
HP:0001302	Pachygyria	55746	NUP133	ORPHA:2065
HP:0001302	Pachygyria	112858	TP53RK	ORPHA:2065
HP:0001302	Pachygyria	8270	LAGE3	ORPHA:2065
HP:0001302	Pachygyria	6792	CDKL5	ORPHA:1934
HP:0001302	Pachygyria	3736	KCNA1	ORPHA:1934
HP:0001302	Pachygyria	9091	PIGQ	ORPHA:1934
HP:0001302	Pachygyria	2775	GNAO1	ORPHA:1934
HP:0001302	Pachygyria	81603	TRIM8	ORPHA:1934
HP:0001302	Pachygyria	2902	GRIN1	ORPHA:1934
HP:0001302	Pachygyria	79751	SLC25A22	ORPHA:1934
HP:0001302	Pachygyria	150094	SIK1	ORPHA:1934
HP:0001302	Pachygyria	8573	CASK	ORPHA:1934
HP:0001302	Pachygyria	23312	DMXL2	ORPHA:1934
HP:0001302	Pachygyria	2917	GRM7	ORPHA:1934
HP:0001302	Pachygyria	11284	PNKP	ORPHA:1934
HP:0001302	Pachygyria	6326	SCN2A	ORPHA:1934
HP:0001302	Pachygyria	51227	PIGP	ORPHA:1934
HP:0001302	Pachygyria	6324	SCN1B	ORPHA:1934
HP:0001302	Pachygyria	4761	NEUROD2	ORPHA:1934
HP:0001302	Pachygyria	2108	ETFA	OMIM:231680
HP:0001302	Pachygyria	2109	ETFB	OMIM:231680
HP:0001302	Pachygyria	2110	ETFDH	OMIM:231680
HP:0001302	Pachygyria	9289	ADGRG1	ORPHA:98889
HP:0001302	Pachygyria	5297	PI4KA	ORPHA:98889
HP:0001302	Pachygyria	27286	SRPX2	ORPHA:98889
HP:0001302	Pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0001304	Torsion dystonia	103	ADAR	ORPHA:41
HP:0001304	Torsion dystonia	3208	HPCA	OMIM:224500
HP:0001304	Torsion dystonia	3208	HPCA	ORPHA:99657
HP:0001304	Torsion dystonia	6872	TAF1	OMIM:314250
HP:0001304	Torsion dystonia	6872	TAF1	ORPHA:53351
HP:0001304	Torsion dystonia	55145	THAP1	OMIM:602629
HP:0001304	Torsion dystonia	10382	TUBB4A	OMIM:128101
HP:0001304	Torsion dystonia	6513	SLC2A1	ORPHA:98811
HP:0001304	Torsion dystonia	112476	PRRT2	ORPHA:98811
HP:0001304	Torsion dystonia	1861	TOR1A	OMIM:128100
HP:0011523	Iris cyst	3166	HMX1	OMIM:612109
HP:0011523	Iris cyst	92154	MTSS2	OMIM:620086
HP:0011520	Deuteranomaly	2652	OPN1MW	OMIM:303800
HP:0011526	Abnormality of lens shape	1410	CRYAB	OMIM:613763
HP:0011526	Abnormality of lens shape	5961	PRPH2	ORPHA:52427
HP:0011526	Abnormality of lens shape	6017	RLBP1	ORPHA:52427
HP:0011526	Abnormality of lens shape	6010	RHO	ORPHA:52427
HP:0011526	Abnormality of lens shape	5959	RDH5	ORPHA:52427
HP:0011526	Abnormality of lens shape	1285	COL4A3	OMIM:104200
HP:0011526	Abnormality of lens shape	1287	COL4A5	OMIM:301050
HP:0011526	Abnormality of lens shape	1286	COL4A4	OMIM:203780
HP:0011526	Abnormality of lens shape	1288	COL4A6	ORPHA:1018
HP:0011526	Abnormality of lens shape	3913	LAMB2	OMIM:609049
HP:0011526	Abnormality of lens shape	1161	ERCC8	ORPHA:90324
HP:0011526	Abnormality of lens shape	2074	ERCC6	ORPHA:90324
HP:0011526	Abnormality of lens shape	4952	OCRL	ORPHA:534
HP:0011526	Abnormality of lens shape	2200	FBN1	OMIM:608328
HP:0011526	Abnormality of lens shape	2200	FBN1	OMIM:154700
HP:0011526	Abnormality of lens shape	4053	LTBP2	OMIM:614819
HP:0011526	Abnormality of lens shape	4053	LTBP2	OMIM:251750
HP:0011526	Abnormality of lens shape	81794	ADAMTS10	OMIM:277600
HP:0011526	Abnormality of lens shape	444	ASPH	OMIM:601552
HP:0011527	Lentiglobus	1161	ERCC8	ORPHA:90324
HP:0011527	Lentiglobus	2074	ERCC6	ORPHA:90324
HP:0011527	Lentiglobus	4952	OCRL	ORPHA:534
HP:0011524	Iris melanoma	8314	BAP1	ORPHA:39044
HP:0011524	Iris melanoma	57105	CYSLTR2	ORPHA:39044
HP:0011524	Iris melanoma	2776	GNAQ	ORPHA:39044
HP:0011524	Iris melanoma	2767	GNA11	ORPHA:39044
HP:0011524	Iris melanoma	23451	SF3B1	ORPHA:39044
HP:0031955	Antalgic gait	1280	COL2A1	ORPHA:166011
HP:0031956	Elevated circulating aspartate aminotransferase concentration	91949	COG7	OMIM:608779
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3376	IARS1	OMIM:617093
HP:0031956	Elevated circulating aspartate aminotransferase concentration	286053	NSMCE2	OMIM:617253
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4952	OCRL	OMIM:300555
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8482	SEMA7A	OMIM:619874
HP:0031956	Elevated circulating aspartate aminotransferase concentration	57128	LYRM4	OMIM:615595
HP:0031956	Elevated circulating aspartate aminotransferase concentration	65080	MRPL44	OMIM:615395
HP:0031956	Elevated circulating aspartate aminotransferase concentration	570	BAAT	OMIM:619232
HP:0031956	Elevated circulating aspartate aminotransferase concentration	11222	MRPL3	OMIM:614582
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7381	UQCRB	OMIM:615158
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5009	OTC	OMIM:311250
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5580	PRKCD	OMIM:615559
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5828	PEX2	OMIM:614866
HP:0031956	Elevated circulating aspartate aminotransferase concentration	435	ASL	OMIM:207900
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2592	GALT	OMIM:230400
HP:0031956	Elevated circulating aspartate aminotransferase concentration	338	APOB	OMIM:615558
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9420	CYP7B1	OMIM:613812
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9420	CYP7B1	ORPHA:79302
HP:0031956	Elevated circulating aspartate aminotransferase concentration	23600	AMACR	OMIM:214950
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6609	SMPD1	OMIM:257200
HP:0031956	Elevated circulating aspartate aminotransferase concentration	123264	SLC51B	OMIM:619481
HP:0031956	Elevated circulating aspartate aminotransferase concentration	10165	SLC25A13	OMIM:605814
HP:0031956	Elevated circulating aspartate aminotransferase concentration	197131	UBR1	OMIM:243800
HP:0031956	Elevated circulating aspartate aminotransferase concentration	55610	VPS50	OMIM:619685
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7504	XK	OMIM:300842
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6514	SLC2A2	OMIM:227810
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6514	SLC2A2	ORPHA:2088
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6341	SCO1	OMIM:619048
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4141	MARS1	OMIM:615486
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3162	HMOX1	OMIM:614034
HP:0031956	Elevated circulating aspartate aminotransferase concentration	54931	TRMT10C	OMIM:616974
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5184	PEPD	OMIM:170100
HP:0031956	Elevated circulating aspartate aminotransferase concentration	131118	DNAJC19	OMIM:610198
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2542	SLC37A4	OMIM:619525
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8309	ACOX2	OMIM:617308
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9409	PEX16	OMIM:614876
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7486	WRN	OMIM:277700
HP:0031956	Elevated circulating aspartate aminotransferase concentration	540	ATP7B	OMIM:277900
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3030	HADHA	OMIM:609015
HP:0031956	Elevated circulating aspartate aminotransferase concentration	56652	TWNK	OMIM:271245
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2273	FHL1	OMIM:300280
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1376	CPT2	OMIM:608836
HP:0031956	Elevated circulating aspartate aminotransferase concentration	79989	IFT56	OMIM:619534
HP:0031956	Elevated circulating aspartate aminotransferase concentration	51116	MRPS2	OMIM:617950
HP:0031956	Elevated circulating aspartate aminotransferase concentration	537	ATP6AP1	OMIM:300972
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9215	LARGE1	OMIM:613154
HP:0031956	Elevated circulating aspartate aminotransferase concentration	50619	DEF6	OMIM:619573
HP:0031956	Elevated circulating aspartate aminotransferase concentration	348	APOE	OMIM:269600
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3988	LIPA	OMIM:278000
HP:0031956	Elevated circulating aspartate aminotransferase concentration	11232	POLG2	OMIM:618528
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9487	PIGL	OMIM:280000
HP:0031956	Elevated circulating aspartate aminotransferase concentration	859	CAV3	OMIM:614321
HP:0031956	Elevated circulating aspartate aminotransferase concentration	191	AHCY	OMIM:613752
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1374	CPT1A	OMIM:255120
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4358	MPV17	OMIM:256810
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5236	PGM1	OMIM:614921
HP:0031956	Elevated circulating aspartate aminotransferase concentration	54532	USP53	OMIM:619658
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5195	PEX14	OMIM:614887
HP:0031956	Elevated circulating aspartate aminotransferase concentration	55858	TMEM165	OMIM:614727
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7841	MOGS	OMIM:606056
HP:0031956	Elevated circulating aspartate aminotransferase concentration	124454	EARS2	OMIM:614924
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3158	HMGCS2	OMIM:605911
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8802	SUCLG1	OMIM:245400
HP:0031956	Elevated circulating aspartate aminotransferase concentration	84342	COG8	OMIM:611182
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9054	NFS1	OMIM:619386
HP:0031956	Elevated circulating aspartate aminotransferase concentration	113220	KIF12	OMIM:619662
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1794	DOCK2	OMIM:616433
HP:0031956	Elevated circulating aspartate aminotransferase concentration	23230	VPS13A	ORPHA:2388
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9971	NR1H4	OMIM:617049
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2683	B4GALT1	OMIM:607091
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4645	MYO5B	OMIM:619868
HP:0031956	Elevated circulating aspartate aminotransferase concentration	26276	VPS33B	OMIM:620010
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6584	SLC22A5	OMIM:212140
HP:0031958	Spastic paraparetic gait	547	KIF1A	ORPHA:101010
HP:0031958	Spastic paraparetic gait	271	AMPD2	ORPHA:401805
HP:0031958	Spastic paraparetic gait	271	AMPD2	OMIM:615686
HP:0031958	Spastic paraparetic gait	10159	ATP6AP2	ORPHA:363654
HP:0031958	Spastic paraparetic gait	6472	SHMT2	OMIM:619121
HP:0031958	Spastic paraparetic gait	25793	FBXO7	OMIM:260300
HP:0031958	Spastic paraparetic gait	23516	SLC39A14	OMIM:617013
HP:0031958	Spastic paraparetic gait	23516	SLC39A14	ORPHA:521406
HP:0031958	Spastic paraparetic gait	23204	ARL6IP1	OMIM:615685
HP:0031958	Spastic paraparetic gait	23204	ARL6IP1	ORPHA:401780
HP:0031958	Spastic paraparetic gait	2074	ERCC6	OMIM:278800
HP:0031958	Spastic paraparetic gait	10667	FARS2	ORPHA:466722
HP:0031958	Spastic paraparetic gait	3798	KIF5A	ORPHA:100991
HP:0031959	Leg dystonia	60	ACTB	OMIM:607371
HP:0031959	Leg dystonia	11315	PARK7	OMIM:606324
HP:0031959	Leg dystonia	9757	KMT2B	ORPHA:589618
HP:0031959	Leg dystonia	2512	FTL	ORPHA:157846
HP:0031959	Leg dystonia	64601	VPS16	OMIM:619291
HP:0031959	Leg dystonia	84340	GFM2	ORPHA:565624
HP:0031959	Leg dystonia	84909	AOPEP	OMIM:619565
HP:0031954	Dystonic gait	5354	PLP1	ORPHA:280210
HP:0031954	Dystonic gait	5354	PLP1	ORPHA:280219
HP:0031954	Dystonic gait	23065	EMC1	ORPHA:480898
HP:0031960	Arm dystonia	57679	ALS2	OMIM:205100
HP:0031960	Arm dystonia	57679	ALS2	ORPHA:300605
HP:0031960	Arm dystonia	2521	FUS	ORPHA:300605
HP:0031960	Arm dystonia	80208	SPG11	ORPHA:300605
HP:0031960	Arm dystonia	10280	SIGMAR1	ORPHA:300605
HP:0031960	Arm dystonia	10558	SPTLC1	ORPHA:300605
HP:0031960	Arm dystonia	9757	KMT2B	ORPHA:589618
HP:0031960	Arm dystonia	2512	FTL	ORPHA:157846
HP:0031960	Arm dystonia	64601	VPS16	OMIM:619291
HP:0031960	Arm dystonia	84909	AOPEP	OMIM:619565
HP:0031960	Arm dystonia	478	ATP1A3	OMIM:601338
HP:0031960	Arm dystonia	1737	DLAT	ORPHA:79244
HP:0031960	Arm dystonia	63982	ANO3	OMIM:615034
HP:0031960	Arm dystonia	23345	SYNE1	ORPHA:88644
HP:0031961	Abnormal serum anion gap	50640	PNPLA8	OMIM:251950
HP:0031961	Abnormal serum anion gap	513	ATP5F1D	OMIM:618120
HP:0031961	Abnormal serum anion gap	11222	MRPL3	OMIM:614582
HP:0031961	Abnormal serum anion gap	166785	MMAA	OMIM:251100
HP:0031962	Elevated serum anion gap	50640	PNPLA8	OMIM:251950
HP:0031962	Elevated serum anion gap	513	ATP5F1D	OMIM:618120
HP:0031962	Elevated serum anion gap	11222	MRPL3	OMIM:614582
HP:0031962	Elevated serum anion gap	166785	MMAA	OMIM:251100
HP:0001310	Dysmetria	10749	KIF1C	ORPHA:397946
HP:0001310	Dysmetria	10749	KIF1C	OMIM:611302
HP:0001310	Dysmetria	10128	LRPPRC	OMIM:220111
HP:0001310	Dysmetria	773	CACNA1A	OMIM:183086
HP:0001310	Dysmetria	23646	PLD3	OMIM:617770
HP:0001310	Dysmetria	55703	POLR3B	OMIM:614381
HP:0001310	Dysmetria	55703	POLR3B	OMIM:607694
HP:0001310	Dysmetria	4099	MAG	OMIM:616680
HP:0001310	Dysmetria	4099	MAG	ORPHA:459056
HP:0001310	Dysmetria	91452	ACBD5	OMIM:618863
HP:0001310	Dysmetria	9853	RUSC2	OMIM:617773
HP:0001310	Dysmetria	2895	GRID2	OMIM:616204
HP:0001310	Dysmetria	9254	CACNA2D2	OMIM:618501
HP:0001310	Dysmetria	5457	POU4F1	ORPHA:314647
HP:0001310	Dysmetria	5457	POU4F1	OMIM:619352
HP:0001310	Dysmetria	23261	CAMTA1	ORPHA:314647
HP:0001310	Dysmetria	23261	CAMTA1	OMIM:614756
HP:0001310	Dysmetria	4758	NEU1	OMIM:256550
HP:0001310	Dysmetria	4758	NEU1	ORPHA:93399
HP:0001310	Dysmetria	4758	NEU1	ORPHA:93400
HP:0001310	Dysmetria	10159	ATP6AP2	ORPHA:93952
HP:0001310	Dysmetria	5428	POLG	ORPHA:94125
HP:0001310	Dysmetria	5428	POLG	OMIM:607459
HP:0001310	Dysmetria	5521	PPP2R2B	OMIM:604326
HP:0001310	Dysmetria	6311	ATXN2	OMIM:183090
HP:0001310	Dysmetria	5917	RARS1	ORPHA:438114
HP:0001310	Dysmetria	5917	RARS1	OMIM:616140
HP:0001310	Dysmetria	2670	GFAP	OMIM:203450
HP:0001310	Dysmetria	10730	YME1L1	OMIM:617302
HP:0001310	Dysmetria	8309	ACOX2	OMIM:617308
HP:0001310	Dysmetria	2911	GRM1	OMIM:614831
HP:0001310	Dysmetria	2911	GRM1	OMIM:617691
HP:0001310	Dysmetria	2911	GRM1	ORPHA:324262
HP:0001310	Dysmetria	547	KIF1A	OMIM:610357
HP:0001310	Dysmetria	55780	ERMARD	ORPHA:75857
HP:0001310	Dysmetria	219285	SAMD9L	OMIM:159550
HP:0001310	Dysmetria	219285	SAMD9L	OMIM:619806
HP:0001310	Dysmetria	9289	ADGRG1	OMIM:606854
HP:0001310	Dysmetria	9289	ADGRG1	ORPHA:98889
HP:0001310	Dysmetria	7345	UCHL1	OMIM:615491
HP:0001310	Dysmetria	55154	MSTO1	OMIM:617675
HP:0001310	Dysmetria	55154	MSTO1	ORPHA:502423
HP:0001310	Dysmetria	8913	CACNA1G	OMIM:618087
HP:0001310	Dysmetria	215	ABCD1	ORPHA:139396
HP:0001310	Dysmetria	64207	IRF2BPL	OMIM:618088
HP:0001310	Dysmetria	64834	ELOVL1	OMIM:618527
HP:0001310	Dysmetria	7436	VLDLR	OMIM:224050
HP:0001310	Dysmetria	5173	PDYN	OMIM:610245
HP:0001310	Dysmetria	5173	PDYN	ORPHA:101108
HP:0001310	Dysmetria	8560	DEGS1	OMIM:618404
HP:0001310	Dysmetria	10939	AFG3L2	ORPHA:313772
HP:0001310	Dysmetria	10939	AFG3L2	OMIM:614487
HP:0001310	Dysmetria	2332	FMR1	ORPHA:93256
HP:0001310	Dysmetria	2332	FMR1	OMIM:300623
HP:0001310	Dysmetria	823	CAPN1	OMIM:616907
HP:0001310	Dysmetria	10273	STUB1	OMIM:618093
HP:0001310	Dysmetria	22	ABCB7	OMIM:301310
HP:0001310	Dysmetria	343641	TGM6	ORPHA:276193
HP:0001310	Dysmetria	343641	TGM6	OMIM:613908
HP:0001310	Dysmetria	5621	PRNP	OMIM:603218
HP:0001310	Dysmetria	5621	PRNP	ORPHA:157941
HP:0001310	Dysmetria	7274	TTPA	ORPHA:96
HP:0001310	Dysmetria	7274	TTPA	OMIM:277460
HP:0001310	Dysmetria	857	CAV1	OMIM:606721
HP:0001310	Dysmetria	6687	SPG7	OMIM:607259
HP:0001310	Dysmetria	80856	LNPK	OMIM:618090
HP:0001310	Dysmetria	26278	SACS	ORPHA:98
HP:0001310	Dysmetria	26278	SACS	OMIM:270550
HP:0001310	Dysmetria	51651	PTRH2	ORPHA:456312
HP:0001310	Dysmetria	51651	PTRH2	OMIM:616263
HP:0001310	Dysmetria	23203	PMPCA	ORPHA:1170
HP:0001310	Dysmetria	23203	PMPCA	OMIM:213200
HP:0001310	Dysmetria	6712	SPTBN2	OMIM:615386
HP:0001310	Dysmetria	6712	SPTBN2	ORPHA:352403
HP:0001310	Dysmetria	6712	SPTBN2	OMIM:600224
HP:0001310	Dysmetria	7156	TOP3A	OMIM:618098
HP:0001310	Dysmetria	246243	RNASEH1	OMIM:616479
HP:0001310	Dysmetria	26090	ABHD12	OMIM:612674
HP:0001310	Dysmetria	10352	WARS2	ORPHA:572798
HP:0001310	Dysmetria	10352	WARS2	OMIM:617710
HP:0001310	Dysmetria	2705	GJB1	ORPHA:1175
HP:0001310	Dysmetria	2705	GJB1	OMIM:302800
HP:0001310	Dysmetria	144165	PRICKLE1	OMIM:612437
HP:0001310	Dysmetria	9907	AP5Z1	OMIM:613647
HP:0001310	Dysmetria	79152	FA2H	OMIM:612319
HP:0001310	Dysmetria	79152	FA2H	ORPHA:171629
HP:0001310	Dysmetria	2395	FXN	ORPHA:95
HP:0001310	Dysmetria	6908	TBP	OMIM:607136
HP:0001310	Dysmetria	10528	NOP56	ORPHA:276198
HP:0001310	Dysmetria	5373	PMM2	OMIM:212065
HP:0001310	Dysmetria	477	ATP1A2	OMIM:602481
HP:0001310	Dysmetria	3475	IFRD1	ORPHA:98771
HP:0001310	Dysmetria	84138	SLC7A6OS	OMIM:619191
HP:0001310	Dysmetria	253738	EBF3	OMIM:617330
HP:0001310	Dysmetria	55768	NGLY1	OMIM:615273
HP:0001310	Dysmetria	9895	TECPR2	OMIM:615031
HP:0001310	Dysmetria	9895	TECPR2	ORPHA:320385
HP:0001310	Dysmetria	55280	CWF19L1	OMIM:616127
HP:0001310	Dysmetria	55280	CWF19L1	ORPHA:453521
HP:0001310	Dysmetria	54902	TTC19	OMIM:615157
HP:0001310	Dysmetria	5828	PEX2	OMIM:614867
HP:0001310	Dysmetria	6804	STX1A	ORPHA:904
HP:0001310	Dysmetria	7461	CLIP2	ORPHA:904
HP:0001310	Dysmetria	84277	DNAJC30	ORPHA:904
HP:0001310	Dysmetria	8468	FKBP6	ORPHA:904
HP:0001310	Dysmetria	5982	RFC2	ORPHA:904
HP:0001310	Dysmetria	2969	GTF2I	ORPHA:904
HP:0001310	Dysmetria	3984	LIMK1	ORPHA:904
HP:0001310	Dysmetria	9569	GTF2IRD1	ORPHA:904
HP:0001310	Dysmetria	155382	VPS37D	ORPHA:904
HP:0001310	Dysmetria	155368	METTL27	ORPHA:904
HP:0001310	Dysmetria	114049	BUD23	ORPHA:904
HP:0001310	Dysmetria	7458	EIF4H	ORPHA:904
HP:0001310	Dysmetria	84163	GTF2IRD2	ORPHA:904
HP:0001310	Dysmetria	9275	BCL7B	ORPHA:904
HP:0001310	Dysmetria	26608	TBL2	ORPHA:904
HP:0001310	Dysmetria	653361	NCF1	ORPHA:904
HP:0001310	Dysmetria	135886	TMEM270	ORPHA:904
HP:0001310	Dysmetria	51085	MLXIPL	ORPHA:904
HP:0001310	Dysmetria	9031	BAZ1B	ORPHA:904
HP:0001310	Dysmetria	2006	ELN	ORPHA:904
HP:0001310	Dysmetria	5297	PI4KA	ORPHA:98889
HP:0001310	Dysmetria	5297	PI4KA	OMIM:619708
HP:0001310	Dysmetria	27286	SRPX2	ORPHA:98889
HP:0001310	Dysmetria	11128	POLR3A	ORPHA:447896
HP:0001310	Dysmetria	11128	POLR3A	OMIM:607694
HP:0001310	Dysmetria	23137	SMC5	OMIM:620185
HP:0001310	Dysmetria	1822	ATN1	ORPHA:101
HP:0001310	Dysmetria	25814	ATXN10	ORPHA:98761
HP:0001310	Dysmetria	25814	ATXN10	OMIM:603516
HP:0001310	Dysmetria	8733	GPAA1	ORPHA:529665
HP:0001310	Dysmetria	8733	GPAA1	OMIM:617810
HP:0001310	Dysmetria	9474	ATG5	OMIM:617584
HP:0001310	Dysmetria	59336	PRDM13	OMIM:619761
HP:0001310	Dysmetria	9409	PEX16	OMIM:614877
HP:0001310	Dysmetria	3708	ITPR1	OMIM:117360
HP:0001310	Dysmetria	3708	ITPR1	ORPHA:208513
HP:0001310	Dysmetria	10531	PITRM1	OMIM:619405
HP:0001310	Dysmetria	57462	MYORG	OMIM:618317
HP:0001310	Dysmetria	11261	CHP1	OMIM:618438
HP:0001310	Dysmetria	6310	ATXN1	ORPHA:98755
HP:0001310	Dysmetria	6310	ATXN1	OMIM:164400
HP:0001310	Dysmetria	55129	ANO10	ORPHA:284289
HP:0001310	Dysmetria	55129	ANO10	OMIM:613728
HP:0001310	Dysmetria	5981	RFC1	ORPHA:504476
HP:0001310	Dysmetria	9725	TMEM63A	OMIM:618688
HP:0001310	Dysmetria	1384	CRAT	OMIM:617917
HP:0001310	Dysmetria	200403	VWA3B	OMIM:616948
HP:0001310	Dysmetria	85021	REPS1	OMIM:617916
HP:0001310	Dysmetria	6314	ATXN7	ORPHA:94147
HP:0001310	Dysmetria	6314	ATXN7	OMIM:164500
HP:0001310	Dysmetria	5654	HTRA1	OMIM:600142
HP:0001310	Dysmetria	56652	TWNK	OMIM:607459
HP:0001310	Dysmetria	3980	LIG3	OMIM:619780
HP:0001310	Dysmetria	2583	B4GALNT1	OMIM:609195
HP:0001310	Dysmetria	57165	GJC2	OMIM:613206
HP:0001310	Dysmetria	4976	OPA1	OMIM:210000
HP:0001310	Dysmetria	4001	LMNB1	ORPHA:99027
HP:0001310	Dysmetria	1203	CLN5	ORPHA:228360
HP:0001310	Dysmetria	1203	CLN5	OMIM:256731
HP:0001310	Dysmetria	23111	SPART	OMIM:275900
HP:0001310	Dysmetria	92935	MARS2	OMIM:611390
HP:0001310	Dysmetria	92935	MARS2	ORPHA:314603
HP:0001310	Dysmetria	23345	SYNE1	ORPHA:88644
HP:0001310	Dysmetria	23345	SYNE1	OMIM:610743
HP:0001310	Dysmetria	124997	WDR81	OMIM:610185
HP:0001310	Dysmetria	9698	PUM1	OMIM:617931
HP:0001310	Dysmetria	6334	SCN8A	OMIM:614306
HP:0001310	Dysmetria	4967	OGDH	OMIM:203740
HP:0001310	Dysmetria	6548	SLC9A1	OMIM:616291
HP:0001310	Dysmetria	91942	NDUFAF2	OMIM:618233
HP:0001310	Dysmetria	440193	CCDC88C	OMIM:616053
HP:0001310	Dysmetria	440193	CCDC88C	ORPHA:423275
HP:0001310	Dysmetria	478	ATP1A3	OMIM:601338
HP:0001310	Dysmetria	23114	NFASC	OMIM:618356
HP:0001310	Dysmetria	8878	SQSTM1	OMIM:617145
HP:0001310	Dysmetria	10157	AASS	ORPHA:2203
HP:0001310	Dysmetria	10166	SLC25A15	OMIM:238970
HP:0001310	Dysmetria	56915	EXOSC5	OMIM:619576
HP:0001310	Dysmetria	9512	PMPCB	OMIM:617954
HP:0001310	Dysmetria	91137	SLC25A46	OMIM:616505
HP:0001310	Dysmetria	4361	MRE11	OMIM:604391
HP:0001310	Dysmetria	4361	MRE11	ORPHA:251347
HP:0001310	Dysmetria	5582	PRKCG	OMIM:605361
HP:0001310	Dysmetria	4547	MTTP	ORPHA:14
HP:0001310	Dysmetria	51300	TIMMDC1	OMIM:618251
HP:0001310	Dysmetria	54664	TMEM106B	OMIM:617964
HP:0001310	Dysmetria	8884	SLC5A6	OMIM:619903
HP:0001310	Dysmetria	1200	TPP1	OMIM:609270
HP:0001310	Dysmetria	1200	TPP1	ORPHA:284324
HP:0001310	Dysmetria	65260	COA7	OMIM:618387
HP:0001310	Dysmetria	9150	CTDP1	ORPHA:48431
HP:0001310	Dysmetria	8270	LAGE3	OMIM:301006
HP:0001310	Dysmetria	64849	SLC13A3	OMIM:618384
HP:0001310	Dysmetria	131669	UROC1	OMIM:276880
HP:0001310	Dysmetria	6472	SHMT2	OMIM:619121
HP:0001310	Dysmetria	79867	TCTN2	OMIM:616654
HP:0001310	Dysmetria	54676	GTPBP2	OMIM:617988
HP:0001310	Dysmetria	7518	XRCC4	OMIM:616541
HP:0001310	Dysmetria	119559	SFXN4	OMIM:615578
HP:0001310	Dysmetria	7515	XRCC1	OMIM:617633
HP:0001310	Dysmetria	23533	PIK3R5	OMIM:615217
HP:0001310	Dysmetria	5354	PLP1	OMIM:312920
HP:0001310	Dysmetria	54936	ADPRS	OMIM:618170
HP:0001310	Dysmetria	84274	COQ5	OMIM:619028
HP:0001310	Dysmetria	221927	BRAT1	OMIM:618056
HP:0001310	Dysmetria	8398	PLA2G6	OMIM:610217
HP:0001310	Dysmetria	26275	HIBCH	OMIM:250620
HP:0001310	Dysmetria	50640	PNPLA8	OMIM:251950
HP:0001310	Dysmetria	50484	RRM2B	ORPHA:329336
HP:0001310	Dysmetria	9420	CYP7B1	OMIM:270800
HP:0001310	Dysmetria	3748	KCNC3	OMIM:605259
HP:0001310	Dysmetria	6575	SLC20A2	OMIM:213600
HP:0001310	Dysmetria	5155	PDGFB	OMIM:213600
HP:0001310	Dysmetria	5159	PDGFRB	OMIM:213600
HP:0001310	Dysmetria	9897	WASHC5	ORPHA:100989
HP:0001310	Dysmetria	57704	GBA2	OMIM:614409
HP:0001310	Dysmetria	1600	DAB1	ORPHA:363710
HP:0001310	Dysmetria	4763	NF1	ORPHA:363700
HP:0001312	Giant somatosensory evoked potentials	401474	SAMD12	OMIM:601068
HP:0001312	Giant somatosensory evoked potentials	56910	STARD7	OMIM:607876
HP:0001312	Giant somatosensory evoked potentials	10501	SEMA6B	OMIM:618876
HP:0001312	Giant somatosensory evoked potentials	378884	NHLRC1	ORPHA:501
HP:0001312	Giant somatosensory evoked potentials	7957	EPM2A	ORPHA:501
HP:0001312	Giant somatosensory evoked potentials	10299	MARCHF6	OMIM:613608
HP:0001315	Reduced tendon reflexes	2137	EXTL3	ORPHA:508533
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:618184
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:180800
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:118200
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:145900
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607677
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607791
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607736
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:118300
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:180800
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:101081
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:118220
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:145900
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:162500
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:98916
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:640
HP:0001315	Reduced tendon reflexes	8506	CNTNAP1	OMIM:618186
HP:0001315	Reduced tendon reflexes	5393	EXOSC9	OMIM:618065
HP:0001315	Reduced tendon reflexes	5393	EXOSC9	ORPHA:2254
HP:0001315	Reduced tendon reflexes	8518	ELP1	ORPHA:1764
HP:0001315	Reduced tendon reflexes	8518	ELP1	OMIM:223900
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:606071
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:600175
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:181405
HP:0001315	Reduced tendon reflexes	22880	MORC2	OMIM:616688
HP:0001315	Reduced tendon reflexes	22880	MORC2	OMIM:619090
HP:0001315	Reduced tendon reflexes	23334	SZT2	OMIM:615476
HP:0001315	Reduced tendon reflexes	23334	SZT2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	50717	DCAF8	OMIM:610100
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	OMIM:615911
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	ORPHA:275872
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	OMIM:615048
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	ORPHA:276435
HP:0001315	Reduced tendon reflexes	19	ABCA1	OMIM:205400
HP:0001315	Reduced tendon reflexes	54820	NDE1	ORPHA:2177
HP:0001315	Reduced tendon reflexes	4747	NEFL	ORPHA:99939
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:607684
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:607734
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:617882
HP:0001315	Reduced tendon reflexes	2521	FUS	ORPHA:275872
HP:0001315	Reduced tendon reflexes	2521	FUS	OMIM:608030
HP:0001315	Reduced tendon reflexes	8878	SQSTM1	ORPHA:275872
HP:0001315	Reduced tendon reflexes	8878	SQSTM1	OMIM:616437
HP:0001315	Reduced tendon reflexes	7415	VCP	ORPHA:275872
HP:0001315	Reduced tendon reflexes	23435	TARDBP	ORPHA:275872
HP:0001315	Reduced tendon reflexes	29110	TBK1	ORPHA:275872
HP:0001315	Reduced tendon reflexes	29110	TBK1	OMIM:616439
HP:0001315	Reduced tendon reflexes	51343	FZR1	OMIM:620145
HP:0001315	Reduced tendon reflexes	51343	FZR1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2731	GLDC	OMIM:605899
HP:0001315	Reduced tendon reflexes	275	AMT	OMIM:605899
HP:0001315	Reduced tendon reflexes	7879	RAB7A	OMIM:600882
HP:0001315	Reduced tendon reflexes	5660	PSAP	OMIM:249900
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309271
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309263
HP:0001315	Reduced tendon reflexes	5660	PSAP	OMIM:611722
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309256
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:206436
HP:0001315	Reduced tendon reflexes	4535	MT-ND1	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4536	MT-ND2	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4537	MT-ND3	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4538	MT-ND4	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4567	MT-TL1	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4578	MT-TW	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4577	MT-TV	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4508	MT-ATP6	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4540	MT-ND5	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4541	MT-ND6	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4566	MT-TK	ORPHA:255210
HP:0001315	Reduced tendon reflexes	58	ACTA1	ORPHA:171436
HP:0001315	Reduced tendon reflexes	58	ACTA1	ORPHA:171433
HP:0001315	Reduced tendon reflexes	58	ACTA1	OMIM:161800
HP:0001315	Reduced tendon reflexes	58	ACTA1	ORPHA:171439
HP:0001315	Reduced tendon reflexes	58	ACTA1	ORPHA:97244
HP:0001315	Reduced tendon reflexes	58	ACTA1	OMIM:616852
HP:0001315	Reduced tendon reflexes	7169	TPM2	ORPHA:171436
HP:0001315	Reduced tendon reflexes	7169	TPM2	ORPHA:171439
HP:0001315	Reduced tendon reflexes	7169	TPM2	OMIM:609285
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171436
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171433
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171439
HP:0001315	Reduced tendon reflexes	4703	NEB	OMIM:256030
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171436
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171433
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171439
HP:0001315	Reduced tendon reflexes	56203	LMOD3	ORPHA:171436
HP:0001315	Reduced tendon reflexes	1073	CFL2	ORPHA:171436
HP:0001315	Reduced tendon reflexes	538	ATP7A	OMIM:300489
HP:0001315	Reduced tendon reflexes	7170	TPM3	ORPHA:171433
HP:0001315	Reduced tendon reflexes	7170	TPM3	ORPHA:171439
HP:0001315	Reduced tendon reflexes	6576	SLC25A1	OMIM:618197
HP:0001315	Reduced tendon reflexes	6576	SLC25A1	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6311	ATXN2	OMIM:183090
HP:0001315	Reduced tendon reflexes	6311	ATXN2	ORPHA:98756
HP:0001315	Reduced tendon reflexes	6335	SCN9A	OMIM:243000
HP:0001315	Reduced tendon reflexes	6335	SCN9A	OMIM:201300
HP:0001315	Reduced tendon reflexes	65082	VPS33A	OMIM:617303
HP:0001315	Reduced tendon reflexes	65082	VPS33A	ORPHA:505248
HP:0001315	Reduced tendon reflexes	84466	MEGF10	OMIM:614399
HP:0001315	Reduced tendon reflexes	2314	FLII	ORPHA:819
HP:0001315	Reduced tendon reflexes	23096	IQSEC2	ORPHA:819
HP:0001315	Reduced tendon reflexes	10743	RAI1	ORPHA:819
HP:0001315	Reduced tendon reflexes	10743	RAI1	OMIM:182290
HP:0001315	Reduced tendon reflexes	10522	DEAF1	ORPHA:819
HP:0001315	Reduced tendon reflexes	3508	IGHMBP2	OMIM:604320
HP:0001315	Reduced tendon reflexes	3508	IGHMBP2	OMIM:616155
HP:0001315	Reduced tendon reflexes	55768	NGLY1	ORPHA:404454
HP:0001315	Reduced tendon reflexes	55768	NGLY1	OMIM:615273
HP:0001315	Reduced tendon reflexes	81846	SBF2	OMIM:604563
HP:0001315	Reduced tendon reflexes	79158	GNPTAB	OMIM:252500
HP:0001315	Reduced tendon reflexes	57231	SNX14	ORPHA:397709
HP:0001315	Reduced tendon reflexes	57231	SNX14	OMIM:616354
HP:0001315	Reduced tendon reflexes	5189	PEX1	OMIM:214100
HP:0001315	Reduced tendon reflexes	5189	PEX1	ORPHA:3220
HP:0001315	Reduced tendon reflexes	100996717	NOTCH2NLC	OMIM:603472
HP:0001315	Reduced tendon reflexes	100996717	NOTCH2NLC	OMIM:619473
HP:0001315	Reduced tendon reflexes	7253	TSHR	ORPHA:90673
HP:0001315	Reduced tendon reflexes	4625	MYH7	OMIM:160500
HP:0001315	Reduced tendon reflexes	7252	TSHB	ORPHA:90674
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309271
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309263
HP:0001315	Reduced tendon reflexes	410	ARSA	OMIM:250100
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309256
HP:0001315	Reduced tendon reflexes	7259	TSPYL1	ORPHA:168593
HP:0001315	Reduced tendon reflexes	10559	SLC35A1	OMIM:603585
HP:0001315	Reduced tendon reflexes	60482	SLC5A7	OMIM:158580
HP:0001315	Reduced tendon reflexes	60482	SLC5A7	ORPHA:98914
HP:0001315	Reduced tendon reflexes	2273	FHL1	OMIM:300695
HP:0001315	Reduced tendon reflexes	2273	FHL1	OMIM:300718
HP:0001315	Reduced tendon reflexes	2273	FHL1	OMIM:300717
HP:0001315	Reduced tendon reflexes	2892	GRIA3	OMIM:300699
HP:0001315	Reduced tendon reflexes	2892	GRIA3	ORPHA:364028
HP:0001315	Reduced tendon reflexes	1351	COX8A	OMIM:619059
HP:0001315	Reduced tendon reflexes	4358	MPV17	OMIM:618400
HP:0001315	Reduced tendon reflexes	4358	MPV17	OMIM:256810
HP:0001315	Reduced tendon reflexes	55154	MSTO1	OMIM:617675
HP:0001315	Reduced tendon reflexes	55154	MSTO1	ORPHA:502423
HP:0001315	Reduced tendon reflexes	50484	RRM2B	OMIM:613077
HP:0001315	Reduced tendon reflexes	50484	RRM2B	ORPHA:254892
HP:0001315	Reduced tendon reflexes	22954	TRIM32	OMIM:254110
HP:0001315	Reduced tendon reflexes	55157	DARS2	ORPHA:137898
HP:0001315	Reduced tendon reflexes	55157	DARS2	OMIM:611105
HP:0001315	Reduced tendon reflexes	311	ANXA11	OMIM:619733
HP:0001315	Reduced tendon reflexes	93627	TBCK	OMIM:616900
HP:0001315	Reduced tendon reflexes	5238	PGM3	OMIM:615816
HP:0001315	Reduced tendon reflexes	2074	ERCC6	OMIM:278800
HP:0001315	Reduced tendon reflexes	2332	FMR1	ORPHA:93256
HP:0001315	Reduced tendon reflexes	2332	FMR1	OMIM:300623
HP:0001315	Reduced tendon reflexes	7276	TTR	OMIM:105210
HP:0001315	Reduced tendon reflexes	55149	MTPAP	ORPHA:254343
HP:0001315	Reduced tendon reflexes	55703	POLR3B	OMIM:619742
HP:0001315	Reduced tendon reflexes	83636	C19orf12	OMIM:614298
HP:0001315	Reduced tendon reflexes	83636	C19orf12	OMIM:615043
HP:0001315	Reduced tendon reflexes	2903	GRIN2A	ORPHA:289266
HP:0001315	Reduced tendon reflexes	54872	PIGG	ORPHA:488635
HP:0001315	Reduced tendon reflexes	54872	PIGG	OMIM:616917
HP:0001315	Reduced tendon reflexes	246243	RNASEH1	OMIM:616479
HP:0001315	Reduced tendon reflexes	55526	DHTKD1	OMIM:615025
HP:0001315	Reduced tendon reflexes	26090	ABHD12	OMIM:612674
HP:0001315	Reduced tendon reflexes	3735	KARS1	OMIM:613641
HP:0001315	Reduced tendon reflexes	11284	PNKP	OMIM:613402
HP:0001315	Reduced tendon reflexes	11284	PNKP	OMIM:605589
HP:0001315	Reduced tendon reflexes	54840	APTX	OMIM:208920
HP:0001315	Reduced tendon reflexes	79731	NARS2	OMIM:616239
HP:0001315	Reduced tendon reflexes	2218	FKTN	OMIM:611588
HP:0001315	Reduced tendon reflexes	2218	FKTN	ORPHA:899
HP:0001315	Reduced tendon reflexes	3737	KCNA2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1759	DNM1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8120	AP3B2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8120	AP3B2	OMIM:617276
HP:0001315	Reduced tendon reflexes	523	ATP6V1A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	10991	SLC38A3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	22906	TRAK1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2566	GABRG2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1917	EEF1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2561	GABRB2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8831	SYNGAP1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	7532	YWHAG	ORPHA:442835
HP:0001315	Reduced tendon reflexes	79876	UBA5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6328	SCN3A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2558	GABRA5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	781	CACNA2D1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2906	GRIN2D	ORPHA:442835
HP:0001315	Reduced tendon reflexes	116150	NUS1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	10659	CELF2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	774	CACNA1B	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1213	CLTC	ORPHA:442835
HP:0001315	Reduced tendon reflexes	51741	WWOX	ORPHA:442835
HP:0001315	Reduced tendon reflexes	51741	WWOX	ORPHA:284282
HP:0001315	Reduced tendon reflexes	51741	WWOX	OMIM:614322
HP:0001315	Reduced tendon reflexes	51412	ACTL6B	ORPHA:442835
HP:0001315	Reduced tendon reflexes	348980	HCN1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6506	SLC1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8867	SYNJ1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8867	SYNJ1	ORPHA:391411
HP:0001315	Reduced tendon reflexes	2258	FGF13	ORPHA:442835
HP:0001315	Reduced tendon reflexes	477	ATP1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	3745	KCNB1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	284111	SLC13A5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	25977	NECAP1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	16	AARS1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	16	AARS1	OMIM:613287
HP:0001315	Reduced tendon reflexes	6334	SCN8A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	22866	CNKSR2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	9568	GABBR2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2555	GABRA2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	55152	DALRD3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	773	CACNA1A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	26999	CYFIP2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	4915	NTRK2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	25973	PARS2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	23097	CDK19	ORPHA:442835
HP:0001315	Reduced tendon reflexes	64801	ARV1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	79947	DHDDS	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2257	FGF12	ORPHA:442835
HP:0001315	Reduced tendon reflexes	5530	PPP3CA	ORPHA:442835
HP:0001315	Reduced tendon reflexes	478	ATP1A3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	9896	FIG4	OMIM:611228
HP:0001315	Reduced tendon reflexes	9927	MFN2	OMIM:601152
HP:0001315	Reduced tendon reflexes	9927	MFN2	OMIM:609260
HP:0001315	Reduced tendon reflexes	9927	MFN2	OMIM:617087
HP:0001315	Reduced tendon reflexes	5373	PMM2	OMIM:212065
HP:0001315	Reduced tendon reflexes	5373	PMM2	ORPHA:79318
HP:0001315	Reduced tendon reflexes	121512	FGD4	OMIM:609311
HP:0001315	Reduced tendon reflexes	7915	ALDH5A1	OMIM:271980
HP:0001315	Reduced tendon reflexes	2313	FLI1	ORPHA:370348
HP:0001315	Reduced tendon reflexes	54332	GDAP1	OMIM:608340
HP:0001315	Reduced tendon reflexes	54332	GDAP1	OMIM:214400
HP:0001315	Reduced tendon reflexes	3752	KCND3	ORPHA:98772
HP:0001315	Reduced tendon reflexes	3752	KCND3	OMIM:607346
HP:0001315	Reduced tendon reflexes	1798	DPAGT1	ORPHA:86309
HP:0001315	Reduced tendon reflexes	10801	SEPTIN9	OMIM:162100
HP:0001315	Reduced tendon reflexes	23299	BICD2	ORPHA:363454
HP:0001315	Reduced tendon reflexes	1187	CLCNKA	OMIM:613090
HP:0001315	Reduced tendon reflexes	1188	CLCNKB	OMIM:613090
HP:0001315	Reduced tendon reflexes	55773	TBC1D23	OMIM:617695
HP:0001315	Reduced tendon reflexes	2318	FLNC	OMIM:614065
HP:0001315	Reduced tendon reflexes	5626	PROP1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	89884	LHX4	ORPHA:226307
HP:0001315	Reduced tendon reflexes	8022	LHX3	ORPHA:226307
HP:0001315	Reduced tendon reflexes	5449	POU1F1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	8820	HESX1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	55699	IARS2	OMIM:616007
HP:0001315	Reduced tendon reflexes	59335	PRDM12	OMIM:616488
HP:0001315	Reduced tendon reflexes	4744	NEFH	OMIM:616924
HP:0001315	Reduced tendon reflexes	5828	PEX2	OMIM:614867
HP:0001315	Reduced tendon reflexes	11340	EXOSC8	ORPHA:2254
HP:0001315	Reduced tendon reflexes	23287	AGTPBP1	ORPHA:2254
HP:0001315	Reduced tendon reflexes	51010	EXOSC3	ORPHA:2254
HP:0001315	Reduced tendon reflexes	7443	VRK1	ORPHA:2254
HP:0001315	Reduced tendon reflexes	91137	SLC25A46	ORPHA:2254
HP:0001315	Reduced tendon reflexes	91137	SLC25A46	OMIM:616505
HP:0001315	Reduced tendon reflexes	79753	SNIP1	OMIM:614501
HP:0001315	Reduced tendon reflexes	4191	MDH2	OMIM:617339
HP:0001315	Reduced tendon reflexes	5190	PEX6	ORPHA:3220
HP:0001315	Reduced tendon reflexes	23345	SYNE1	ORPHA:319332
HP:0001315	Reduced tendon reflexes	23345	SYNE1	OMIM:618484
HP:0001315	Reduced tendon reflexes	54499	TMCO1	OMIM:213980
HP:0001315	Reduced tendon reflexes	100134444	KCNJ18	ORPHA:79102
HP:0001315	Reduced tendon reflexes	100134444	KCNJ18	OMIM:613239
HP:0001315	Reduced tendon reflexes	2556	GABRA3	ORPHA:79102
HP:0001315	Reduced tendon reflexes	779	CACNA1S	ORPHA:79102
HP:0001315	Reduced tendon reflexes	6606	SMN1	OMIM:253400
HP:0001315	Reduced tendon reflexes	6607	SMN2	OMIM:253400
HP:0001315	Reduced tendon reflexes	6609	SMPD1	OMIM:257200
HP:0001315	Reduced tendon reflexes	92667	MGME1	ORPHA:352447
HP:0001315	Reduced tendon reflexes	92667	MGME1	OMIM:615084
HP:0001315	Reduced tendon reflexes	1822	ATN1	ORPHA:101
HP:0001315	Reduced tendon reflexes	10908	PNPLA6	OMIM:215470
HP:0001315	Reduced tendon reflexes	25814	ATXN10	ORPHA:98761
HP:0001315	Reduced tendon reflexes	4311	MME	ORPHA:497764
HP:0001315	Reduced tendon reflexes	4311	MME	OMIM:617018
HP:0001315	Reduced tendon reflexes	4311	MME	OMIM:617017
HP:0001315	Reduced tendon reflexes	23175	LPIN1	OMIM:268200
HP:0001315	Reduced tendon reflexes	4669	NAGLU	OMIM:616491
HP:0001315	Reduced tendon reflexes	23095	KIF1B	OMIM:118210
HP:0001315	Reduced tendon reflexes	6261	RYR1	OMIM:117000
HP:0001315	Reduced tendon reflexes	6261	RYR1	ORPHA:324581
HP:0001315	Reduced tendon reflexes	59336	PRDM13	OMIM:619761
HP:0001315	Reduced tendon reflexes	59336	PRDM13	OMIM:619909
HP:0001315	Reduced tendon reflexes	56652	TWNK	OMIM:616138
HP:0001315	Reduced tendon reflexes	56652	TWNK	OMIM:607459
HP:0001315	Reduced tendon reflexes	56652	TWNK	ORPHA:254892
HP:0001315	Reduced tendon reflexes	56652	TWNK	OMIM:609286
HP:0001315	Reduced tendon reflexes	56652	TWNK	ORPHA:70595
HP:0001315	Reduced tendon reflexes	5192	PEX10	OMIM:614871
HP:0001315	Reduced tendon reflexes	146227	BEAN1	ORPHA:217012
HP:0001315	Reduced tendon reflexes	9711	RUBCN	ORPHA:404499
HP:0001315	Reduced tendon reflexes	91949	COG7	ORPHA:79333
HP:0001315	Reduced tendon reflexes	91949	COG7	OMIM:608779
HP:0001315	Reduced tendon reflexes	6785	ELOVL4	ORPHA:1955
HP:0001315	Reduced tendon reflexes	6785	ELOVL4	OMIM:133190
HP:0001315	Reduced tendon reflexes	23065	EMC1	ORPHA:480898
HP:0001315	Reduced tendon reflexes	23065	EMC1	OMIM:616875
HP:0001315	Reduced tendon reflexes	6310	ATXN1	ORPHA:98755
HP:0001315	Reduced tendon reflexes	38	ACAT1	ORPHA:134
HP:0001315	Reduced tendon reflexes	23556	PIGN	OMIM:614080
HP:0001315	Reduced tendon reflexes	23556	PIGN	ORPHA:280633
HP:0001315	Reduced tendon reflexes	4677	NARS1	OMIM:619091
HP:0001315	Reduced tendon reflexes	4677	NARS1	OMIM:619092
HP:0001315	Reduced tendon reflexes	51651	PTRH2	OMIM:616263
HP:0001315	Reduced tendon reflexes	5354	PLP1	OMIM:312080
HP:0001315	Reduced tendon reflexes	339855	KY	OMIM:617114
HP:0001315	Reduced tendon reflexes	26047	CNTNAP2	OMIM:610042
HP:0001315	Reduced tendon reflexes	26047	CNTNAP2	ORPHA:163681
HP:0001315	Reduced tendon reflexes	4099	MAG	ORPHA:459056
HP:0001315	Reduced tendon reflexes	1374	CPT1A	OMIM:255120
HP:0001315	Reduced tendon reflexes	23219	FBXO28	OMIM:619777
HP:0001315	Reduced tendon reflexes	84665	MYPN	ORPHA:171439
HP:0001315	Reduced tendon reflexes	390594	KBTBD13	ORPHA:171439
HP:0001315	Reduced tendon reflexes	50628	GEMIN4	OMIM:617913
HP:0001315	Reduced tendon reflexes	404672	GTF2H5	ORPHA:33364
HP:0001315	Reduced tendon reflexes	833	CARS1	ORPHA:33364
HP:0001315	Reduced tendon reflexes	2068	ERCC2	ORPHA:33364
HP:0001315	Reduced tendon reflexes	2068	ERCC2	OMIM:278730
HP:0001315	Reduced tendon reflexes	7737	RNF113A	ORPHA:33364
HP:0001315	Reduced tendon reflexes	136647	MPLKIP	ORPHA:33364
HP:0001315	Reduced tendon reflexes	6897	TARS1	ORPHA:33364
HP:0001315	Reduced tendon reflexes	2071	ERCC3	ORPHA:33364
HP:0001315	Reduced tendon reflexes	2961	GTF2E2	ORPHA:33364
HP:0001315	Reduced tendon reflexes	3339	HSPG2	OMIM:255800
HP:0001315	Reduced tendon reflexes	3339	HSPG2	ORPHA:800
HP:0001315	Reduced tendon reflexes	51750	RTEL1	ORPHA:3322
HP:0001315	Reduced tendon reflexes	65057	ACD	ORPHA:3322
HP:0001315	Reduced tendon reflexes	5073	PARN	ORPHA:3322
HP:0001315	Reduced tendon reflexes	7015	TERT	ORPHA:3322
HP:0001315	Reduced tendon reflexes	26277	TINF2	ORPHA:3322
HP:0001315	Reduced tendon reflexes	1736	DKC1	ORPHA:3322
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:79443
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:79444
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:94089
HP:0001315	Reduced tendon reflexes	26353	HSPB8	OMIM:608673
HP:0001315	Reduced tendon reflexes	3098	HK1	OMIM:605285
HP:0001315	Reduced tendon reflexes	367	AR	ORPHA:481
HP:0001315	Reduced tendon reflexes	367	AR	OMIM:313200
HP:0001315	Reduced tendon reflexes	9217	VAPB	OMIM:182980
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:607459
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:254892
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:258450
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:254886
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:157640
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:70595
HP:0001315	Reduced tendon reflexes	54463	RETREG1	OMIM:201300
HP:0001315	Reduced tendon reflexes	54463	RETREG1	OMIM:613115
HP:0001315	Reduced tendon reflexes	65125	WNK1	OMIM:201300
HP:0001315	Reduced tendon reflexes	547	KIF1A	OMIM:201300
HP:0001315	Reduced tendon reflexes	547	KIF1A	OMIM:614213
HP:0001315	Reduced tendon reflexes	59345	GNB4	OMIM:615185
HP:0001315	Reduced tendon reflexes	57505	AARS2	OMIM:614096
HP:0001315	Reduced tendon reflexes	10159	ATP6AP2	OMIM:300423
HP:0001315	Reduced tendon reflexes	1337	COX6A1	OMIM:616039
HP:0001315	Reduced tendon reflexes	2583	B4GALNT1	OMIM:609195
HP:0001315	Reduced tendon reflexes	2583	B4GALNT1	ORPHA:101006
HP:0001315	Reduced tendon reflexes	22907	DHX30	OMIM:617804
HP:0001315	Reduced tendon reflexes	51013	EXOSC1	OMIM:619304
HP:0001315	Reduced tendon reflexes	81603	TRIM8	OMIM:619428
HP:0001315	Reduced tendon reflexes	57410	SCYL1	OMIM:616719
HP:0001315	Reduced tendon reflexes	57410	SCYL1	ORPHA:466794
HP:0001315	Reduced tendon reflexes	339453	TMEM240	OMIM:607454
HP:0001315	Reduced tendon reflexes	23064	SETX	OMIM:606002
HP:0001315	Reduced tendon reflexes	1959	EGR2	OMIM:145900
HP:0001315	Reduced tendon reflexes	57716	PRX	OMIM:145900
HP:0001315	Reduced tendon reflexes	5830	PEX5	OMIM:616716
HP:0001315	Reduced tendon reflexes	8803	SUCLA2	ORPHA:1933
HP:0001315	Reduced tendon reflexes	8803	SUCLA2	OMIM:612073
HP:0001315	Reduced tendon reflexes	1785	DNM2	OMIM:606482
HP:0001315	Reduced tendon reflexes	2617	GARS1	OMIM:601472
HP:0001315	Reduced tendon reflexes	8729	GBF1	OMIM:606483
HP:0001315	Reduced tendon reflexes	291	SLC25A4	ORPHA:254892
HP:0001315	Reduced tendon reflexes	291	SLC25A4	OMIM:617184
HP:0001315	Reduced tendon reflexes	11232	POLG2	ORPHA:254892
HP:0001315	Reduced tendon reflexes	9488	PIGB	OMIM:618580
HP:0001315	Reduced tendon reflexes	57190	SELENON	ORPHA:97244
HP:0001315	Reduced tendon reflexes	3155	HMGCL	ORPHA:20
HP:0001315	Reduced tendon reflexes	127833	SYT2	OMIM:616040
HP:0001315	Reduced tendon reflexes	127833	SYT2	ORPHA:98914
HP:0001315	Reduced tendon reflexes	79705	LRRK1	OMIM:615198
HP:0001315	Reduced tendon reflexes	5193	PEX12	OMIM:266510
HP:0001315	Reduced tendon reflexes	124997	WDR81	OMIM:610185
HP:0001315	Reduced tendon reflexes	7167	TPI1	OMIM:615512
HP:0001315	Reduced tendon reflexes	1410	CRYAB	ORPHA:399058
HP:0001315	Reduced tendon reflexes	79912	PYROXD1	OMIM:617258
HP:0001315	Reduced tendon reflexes	51807	TUBA8	ORPHA:250972
HP:0001315	Reduced tendon reflexes	1756	DMD	OMIM:310200
HP:0001315	Reduced tendon reflexes	1756	DMD	OMIM:300376
HP:0001315	Reduced tendon reflexes	85358	SHANK3	OMIM:606232
HP:0001315	Reduced tendon reflexes	2200	FBN1	ORPHA:284979
HP:0001315	Reduced tendon reflexes	8675	STX16	ORPHA:94089
HP:0001315	Reduced tendon reflexes	256297	PTF1A	OMIM:609069
HP:0001315	Reduced tendon reflexes	7555	CNBP	OMIM:602668
HP:0001315	Reduced tendon reflexes	10397	NDRG1	OMIM:601455
HP:0001315	Reduced tendon reflexes	57465	TBC1D24	OMIM:220500
HP:0001315	Reduced tendon reflexes	57465	TBC1D24	ORPHA:79500
HP:0001315	Reduced tendon reflexes	91942	NDUFAF2	OMIM:618233
HP:0001315	Reduced tendon reflexes	7084	TK2	ORPHA:254886
HP:0001315	Reduced tendon reflexes	7084	TK2	ORPHA:254875
HP:0001315	Reduced tendon reflexes	23114	NFASC	OMIM:618356
HP:0001315	Reduced tendon reflexes	5191	PEX7	OMIM:266500
HP:0001315	Reduced tendon reflexes	5264	PHYH	OMIM:266500
HP:0001315	Reduced tendon reflexes	116461	TSEN15	OMIM:617026
HP:0001315	Reduced tendon reflexes	80347	COASY	OMIM:615643
HP:0001315	Reduced tendon reflexes	50	ACO2	OMIM:614559
HP:0001315	Reduced tendon reflexes	90678	LRSAM1	OMIM:614436
HP:0001315	Reduced tendon reflexes	1130	LYST	OMIM:214500
HP:0001315	Reduced tendon reflexes	84892	POMGNT2	ORPHA:899
HP:0001315	Reduced tendon reflexes	148789	B3GALNT2	ORPHA:899
HP:0001315	Reduced tendon reflexes	79147	FKRP	ORPHA:899
HP:0001315	Reduced tendon reflexes	79147	FKRP	OMIM:613153
HP:0001315	Reduced tendon reflexes	29954	POMT2	ORPHA:899
HP:0001315	Reduced tendon reflexes	29954	POMT2	OMIM:613156
HP:0001315	Reduced tendon reflexes	9215	LARGE1	ORPHA:899
HP:0001315	Reduced tendon reflexes	1282	COL4A1	ORPHA:899
HP:0001315	Reduced tendon reflexes	729920	CRPPA	ORPHA:899
HP:0001315	Reduced tendon reflexes	10329	RXYLT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	1605	DAG1	ORPHA:899
HP:0001315	Reduced tendon reflexes	11041	B4GAT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	10585	POMT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	84197	POMK	ORPHA:899
HP:0001315	Reduced tendon reflexes	84197	POMK	OMIM:616094
HP:0001315	Reduced tendon reflexes	55624	POMGNT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	4694	NDUFA1	OMIM:301020
HP:0001315	Reduced tendon reflexes	57551	TAOK1	OMIM:619575
HP:0001315	Reduced tendon reflexes	8888	MCM3AP	OMIM:618124
HP:0001315	Reduced tendon reflexes	4704	NDUFA9	OMIM:618247
HP:0001315	Reduced tendon reflexes	1621	DBH	OMIM:223360
HP:0001315	Reduced tendon reflexes	405753	DUOXA2	ORPHA:95716
HP:0001315	Reduced tendon reflexes	6528	SLC5A5	ORPHA:95716
HP:0001315	Reduced tendon reflexes	7038	TG	ORPHA:95716
HP:0001315	Reduced tendon reflexes	7173	TPO	ORPHA:95716
HP:0001315	Reduced tendon reflexes	389434	IYD	ORPHA:95716
HP:0001315	Reduced tendon reflexes	50506	DUOX2	ORPHA:95716
HP:0001315	Reduced tendon reflexes	1778	DYNC1H1	OMIM:614563
HP:0001315	Reduced tendon reflexes	1778	DYNC1H1	OMIM:614228
HP:0001315	Reduced tendon reflexes	64856	VWA1	OMIM:619216
HP:0001315	Reduced tendon reflexes	23203	PMPCA	OMIM:213200
HP:0001315	Reduced tendon reflexes	3913	LAMB2	OMIM:609049
HP:0001315	Reduced tendon reflexes	3913	LAMB2	ORPHA:98915
HP:0001315	Reduced tendon reflexes	4361	MRE11	OMIM:604391
HP:0001315	Reduced tendon reflexes	112812	FDX2	OMIM:251900
HP:0001315	Reduced tendon reflexes	7809	BSND	OMIM:602522
HP:0001315	Reduced tendon reflexes	4556	MT-TE	ORPHA:254864
HP:0001315	Reduced tendon reflexes	55687	TRMU	ORPHA:254864
HP:0001315	Reduced tendon reflexes	2705	GJB1	OMIM:302800
HP:0001315	Reduced tendon reflexes	64423	INF2	OMIM:614455
HP:0001315	Reduced tendon reflexes	7453	WARS1	OMIM:617721
HP:0001315	Reduced tendon reflexes	5981	RFC1	OMIM:614575
HP:0001315	Reduced tendon reflexes	6638	SNRPN	ORPHA:177907
HP:0001315	Reduced tendon reflexes	81790	RNF170	OMIM:608984
HP:0001315	Reduced tendon reflexes	5498	PPOX	ORPHA:79473
HP:0001315	Reduced tendon reflexes	64374	SIL1	ORPHA:559
HP:0001315	Reduced tendon reflexes	51763	INPP5K	ORPHA:559
HP:0001315	Reduced tendon reflexes	9531	BAG3	OMIM:612954
HP:0001315	Reduced tendon reflexes	4000	LMNA	OMIM:605588
HP:0001315	Reduced tendon reflexes	81857	MED25	OMIM:605589
HP:0001315	Reduced tendon reflexes	79784	MYH14	ORPHA:397744
HP:0001315	Reduced tendon reflexes	65260	COA7	OMIM:618387
HP:0001315	Reduced tendon reflexes	57003	CCDC47	OMIM:618268
HP:0001315	Reduced tendon reflexes	2548	GAA	OMIM:232300
HP:0001315	Reduced tendon reflexes	50846	DHH	OMIM:607080
HP:0001315	Reduced tendon reflexes	63895	PIEZO2	OMIM:108145
HP:0001315	Reduced tendon reflexes	526	ATP6V1B2	ORPHA:79500
HP:0001315	Reduced tendon reflexes	7507	XPA	OMIM:278700
HP:0001315	Reduced tendon reflexes	9829	DNAJC6	ORPHA:391411
HP:0001315	Reduced tendon reflexes	5420	PODXL	ORPHA:391411
HP:0001315	Reduced tendon reflexes	476	ATP1A1	OMIM:618036
HP:0001315	Reduced tendon reflexes	5162	PDHB	OMIM:614111
HP:0001315	Reduced tendon reflexes	54870	QRICH1	OMIM:617982
HP:0001315	Reduced tendon reflexes	23230	VPS13A	OMIM:200150
HP:0001315	Reduced tendon reflexes	57688	ZSWIM6	OMIM:617865
HP:0001315	Reduced tendon reflexes	3295	HSD17B4	OMIM:233400
HP:0001315	Reduced tendon reflexes	57570	TRMT5	OMIM:616539
HP:0001315	Reduced tendon reflexes	4649	MYO9A	ORPHA:98914
HP:0001315	Reduced tendon reflexes	1305	COL13A1	ORPHA:98914
HP:0001315	Reduced tendon reflexes	1103	CHAT	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6843	VAMP1	ORPHA:98914
HP:0001315	Reduced tendon reflexes	375790	AGRN	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6572	SLC18A3	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6616	SNAP25	ORPHA:98914
HP:0001315	Reduced tendon reflexes	8292	COLQ	ORPHA:98915
HP:0001315	Reduced tendon reflexes	1786	DNMT1	OMIM:614116
HP:0001315	Reduced tendon reflexes	9499	MYOT	ORPHA:98911
HP:0001315	Reduced tendon reflexes	6663	SOX10	OMIM:609136
HP:0001315	Reduced tendon reflexes	9516	LITAF	OMIM:601098
HP:0001315	Reduced tendon reflexes	9759	HDAC4	OMIM:600430
HP:0001315	Reduced tendon reflexes	10558	SPTLC1	OMIM:162400
HP:0001315	Reduced tendon reflexes	1716	DGUOK	OMIM:617070
HP:0001315	Reduced tendon reflexes	2629	GBA1	ORPHA:2072
HP:0001315	Reduced tendon reflexes	9786	KIAA0586	OMIM:616546
HP:0001315	Reduced tendon reflexes	4038	LRP4	OMIM:616304
HP:0001315	Reduced tendon reflexes	4724	NDUFS4	OMIM:252010
HP:0001315	Reduced tendon reflexes	60386	SLC25A19	OMIM:613710
HP:0001315	Reduced tendon reflexes	203190	LGI3	OMIM:620007
HP:0001315	Reduced tendon reflexes	55005	RMND1	OMIM:614922
HP:0001315	Reduced tendon reflexes	23533	PIK3R5	OMIM:615217
HP:0001315	Reduced tendon reflexes	2581	GALC	ORPHA:206436
HP:0001315	Reduced tendon reflexes	1795	DOCK3	OMIM:618292
HP:0001315	Reduced tendon reflexes	129285	PPP1R21	OMIM:619383
HP:0001315	Reduced tendon reflexes	60684	TRAPPC11	ORPHA:369840
HP:0001315	Reduced tendon reflexes	9181	ARHGEF2	OMIM:617523
HP:0001315	Reduced tendon reflexes	9131	AIFM1	OMIM:300816
HP:0001315	Reduced tendon reflexes	87178	PNPT1	OMIM:614932
HP:0001315	Reduced tendon reflexes	9987	HNRNPDL	OMIM:609115
HP:0001315	Reduced tendon reflexes	246329	STAC3	OMIM:255995
HP:0001315	Reduced tendon reflexes	65055	REEP1	OMIM:620011
HP:0001315	Reduced tendon reflexes	91574	MTRFR	ORPHA:254930
HP:0001315	Reduced tendon reflexes	91574	MTRFR	OMIM:613559
HP:0001315	Reduced tendon reflexes	3094	HINT1	ORPHA:324442
HP:0001315	Reduced tendon reflexes	6834	SURF1	OMIM:616684
HP:0001315	Reduced tendon reflexes	1161	ERCC8	ORPHA:90324
HP:0001315	Reduced tendon reflexes	10059	DNM1L	OMIM:614388
HP:0001315	Reduced tendon reflexes	10059	DNM1L	ORPHA:98673
HP:0001315	Reduced tendon reflexes	55775	TDP1	ORPHA:94124
HP:0001315	Reduced tendon reflexes	55775	TDP1	OMIM:607250
HP:0001315	Reduced tendon reflexes	79581	SLC52A2	OMIM:614707
HP:0001315	Reduced tendon reflexes	3190	HNRNPK	ORPHA:453504
HP:0001315	Reduced tendon reflexes	3190	HNRNPK	ORPHA:352665
HP:0001315	Reduced tendon reflexes	5339	PLEC	ORPHA:254361
HP:0001315	Reduced tendon reflexes	5631	PRPS1	ORPHA:99014
HP:0001315	Reduced tendon reflexes	5631	PRPS1	ORPHA:1187
HP:0001315	Reduced tendon reflexes	5631	PRPS1	OMIM:301835
HP:0001315	Reduced tendon reflexes	56704	JPH1	OMIM:607831
HP:0001315	Reduced tendon reflexes	8566	PDXK	OMIM:618511
HP:0001315	Reduced tendon reflexes	200205	IBA57	OMIM:616451
HP:0001315	Reduced tendon reflexes	9200	HACD1	OMIM:619967
HP:0001315	Reduced tendon reflexes	9200	HACD1	ORPHA:2020
HP:0001315	Reduced tendon reflexes	29925	GMPPB	ORPHA:353327
HP:0001315	Reduced tendon reflexes	2673	GFPT1	ORPHA:353327
HP:0001315	Reduced tendon reflexes	85365	ALG2	ORPHA:353327
HP:0001315	Reduced tendon reflexes	199857	ALG14	ORPHA:353327
HP:0001315	Reduced tendon reflexes	23250	ATP11A	OMIM:619851
HP:0001315	Reduced tendon reflexes	23321	TRIM2	OMIM:615490
HP:0001315	Reduced tendon reflexes	57449	PLEKHG5	OMIM:615376
HP:0001315	Reduced tendon reflexes	57449	PLEKHG5	OMIM:611067
HP:0001315	Reduced tendon reflexes	1020	CDK5	OMIM:616342
HP:0001315	Reduced tendon reflexes	274	BIN1	OMIM:255200
HP:0001315	Reduced tendon reflexes	274	BIN1	ORPHA:169186
HP:0001315	Reduced tendon reflexes	1272	CNTN1	OMIM:612540
HP:0001315	Reduced tendon reflexes	9692	PRORP	OMIM:619737
HP:0001315	Reduced tendon reflexes	966	CD59	OMIM:612300
HP:0001315	Reduced tendon reflexes	55681	SCYL2	OMIM:618766
HP:0001315	Reduced tendon reflexes	55681	SCYL2	ORPHA:1143
HP:0001315	Reduced tendon reflexes	29967	LRP12	OMIM:164310
HP:0001315	Reduced tendon reflexes	9570	GOSR2	OMIM:620166
HP:0001315	Reduced tendon reflexes	9570	GOSR2	OMIM:614018
HP:0001315	Reduced tendon reflexes	8802	SUCLG1	OMIM:245400
HP:0001315	Reduced tendon reflexes	7274	TTPA	ORPHA:96
HP:0001315	Reduced tendon reflexes	7274	TTPA	OMIM:277460
HP:0001315	Reduced tendon reflexes	4633	MYL2	ORPHA:2020
HP:0001315	Reduced tendon reflexes	3679	ITGA7	ORPHA:2020
HP:0001315	Reduced tendon reflexes	51776	MAP3K20	ORPHA:2020
HP:0001315	Reduced tendon reflexes	1303	COL12A1	OMIM:616470
HP:0001315	Reduced tendon reflexes	1303	COL12A1	ORPHA:536516
HP:0001315	Reduced tendon reflexes	4632	MYL1	OMIM:618414
HP:0001315	Reduced tendon reflexes	3475	IFRD1	ORPHA:98771
HP:0001315	Reduced tendon reflexes	5621	PRNP	ORPHA:356
HP:0001315	Reduced tendon reflexes	5621	PRNP	OMIM:137440
HP:0001315	Reduced tendon reflexes	9895	TECPR2	OMIM:615031
HP:0001315	Reduced tendon reflexes	9895	TECPR2	ORPHA:320385
HP:0001315	Reduced tendon reflexes	57863	CADM3	OMIM:619519
HP:0001315	Reduced tendon reflexes	92609	TIMM50	OMIM:617698
HP:0001315	Reduced tendon reflexes	6507	SLC1A3	ORPHA:2131
HP:0001315	Reduced tendon reflexes	10290	SPEG	OMIM:615959
HP:0001315	Reduced tendon reflexes	10290	SPEG	ORPHA:169186
HP:0001315	Reduced tendon reflexes	8659	ALDH4A1	ORPHA:79101
HP:0001315	Reduced tendon reflexes	9990	SLC12A6	OMIM:620068
HP:0001315	Reduced tendon reflexes	9990	SLC12A6	OMIM:218000
HP:0001315	Reduced tendon reflexes	4952	OCRL	OMIM:309000
HP:0001315	Reduced tendon reflexes	4952	OCRL	ORPHA:534
HP:0001315	Reduced tendon reflexes	25894	PLEKHG4	ORPHA:98765
HP:0001315	Reduced tendon reflexes	10613	ERLIN1	ORPHA:401785
HP:0001315	Reduced tendon reflexes	64419	MTMR14	OMIM:160150
HP:0001315	Reduced tendon reflexes	6305	SBF1	OMIM:615284
HP:0001315	Reduced tendon reflexes	7358	UGDH	OMIM:618792
HP:0001315	Reduced tendon reflexes	163175	LGI4	OMIM:617468
HP:0001315	Reduced tendon reflexes	10342	TFG	ORPHA:90117
HP:0001315	Reduced tendon reflexes	10342	TFG	OMIM:604484
HP:0001315	Reduced tendon reflexes	182	JAG1	OMIM:118450
HP:0001315	Reduced tendon reflexes	51128	SAR1B	ORPHA:71
HP:0001315	Reduced tendon reflexes	8565	YARS1	OMIM:608323
HP:0001315	Reduced tendon reflexes	57104	PNPLA2	OMIM:610717
HP:0001315	Reduced tendon reflexes	57104	PNPLA2	ORPHA:98908
HP:0001315	Reduced tendon reflexes	9342	SNAP29	OMIM:609528
HP:0001315	Reduced tendon reflexes	9342	SNAP29	ORPHA:66631
HP:0001315	Reduced tendon reflexes	3300	DNAJB2	OMIM:614881
HP:0001315	Reduced tendon reflexes	8504	PEX3	OMIM:614882
HP:0001315	Reduced tendon reflexes	7317	UBA1	ORPHA:1145
HP:0001315	Reduced tendon reflexes	7317	UBA1	OMIM:301830
HP:0001315	Reduced tendon reflexes	84570	COL25A1	ORPHA:1143
HP:0001315	Reduced tendon reflexes	57222	ERGIC1	ORPHA:1143
HP:0001315	Reduced tendon reflexes	5195	PEX14	OMIM:614887
HP:0001315	Reduced tendon reflexes	23479	ISCU	OMIM:255125
HP:0001315	Reduced tendon reflexes	667	DST	OMIM:614653
HP:0001315	Reduced tendon reflexes	23590	PDSS1	OMIM:614651
HP:0001315	Reduced tendon reflexes	5081	PAX7	OMIM:618578
HP:0001315	Reduced tendon reflexes	79628	SH3TC2	ORPHA:99949
HP:0001315	Reduced tendon reflexes	56052	ALG1	OMIM:608540
HP:0001315	Reduced tendon reflexes	7273	TTN	ORPHA:169186
HP:0001315	Reduced tendon reflexes	353116	RILPL1	OMIM:619790
HP:0001315	Reduced tendon reflexes	4141	MARS1	OMIM:616280
HP:0001315	Reduced tendon reflexes	80207	OPA3	ORPHA:67036
HP:0001315	Reduced tendon reflexes	112	ADCY6	OMIM:616287
HP:0001315	Reduced tendon reflexes	270	AMPD1	OMIM:615511
HP:0001315	Reduced tendon reflexes	6904	TBCD	ORPHA:496641
HP:0001315	Reduced tendon reflexes	427	ASAH1	OMIM:159950
HP:0001315	Reduced tendon reflexes	4976	OPA1	ORPHA:98673
HP:0001315	Reduced tendon reflexes	25929	GEMIN5	OMIM:619333
HP:0001315	Reduced tendon reflexes	28982	FLVCR1	ORPHA:88628
HP:0001315	Reduced tendon reflexes	28982	FLVCR1	OMIM:609033
HP:0001315	Reduced tendon reflexes	55906	ZC4H2	OMIM:314580
HP:0001315	Reduced tendon reflexes	51008	ASCC1	OMIM:616867
HP:0001315	Reduced tendon reflexes	9325	TRIP4	OMIM:616866
HP:0001315	Reduced tendon reflexes	4547	MTTP	ORPHA:14
HP:0001315	Reduced tendon reflexes	51305	KCNK9	ORPHA:166108
HP:0001315	Reduced tendon reflexes	3908	LAMA2	OMIM:618138
HP:0001315	Reduced tendon reflexes	3908	LAMA2	OMIM:607855
HP:0001315	Reduced tendon reflexes	89874	SLC25A21	OMIM:618811
HP:0001315	Reduced tendon reflexes	2065	ERBB3	OMIM:243180
HP:0001315	Reduced tendon reflexes	10755	GIPC1	ORPHA:98897
HP:0001315	Reduced tendon reflexes	953	ENTPD1	ORPHA:401810
HP:0001315	Reduced tendon reflexes	340075	ARSI	ORPHA:401815
HP:0001315	Reduced tendon reflexes	4576	MT-TT	ORPHA:254857
HP:0001315	Reduced tendon reflexes	8087	FXR1	OMIM:618822
HP:0001315	Reduced tendon reflexes	8087	FXR1	OMIM:618823
HP:0001315	Reduced tendon reflexes	1890	TYMP	OMIM:603041
HP:0001315	Reduced tendon reflexes	4534	MTM1	OMIM:310400
HP:0001315	Reduced tendon reflexes	283446	MYO1H	OMIM:619482
HP:0001315	Reduced tendon reflexes	1806	DPYD	ORPHA:1675
HP:0001315	Reduced tendon reflexes	859	CAV3	ORPHA:488650
HP:0001315	Reduced tendon reflexes	29929	ALG6	OMIM:603147
HP:0001315	Reduced tendon reflexes	5528	PPP2R5D	ORPHA:457279
HP:0001315	Reduced tendon reflexes	51099	ABHD5	ORPHA:98907
HP:0001315	Reduced tendon reflexes	7515	XRCC1	OMIM:617633
HP:0001315	Reduced tendon reflexes	8799	PEX11B	OMIM:614920
HP:0001315	Reduced tendon reflexes	9997	SCO2	ORPHA:521411
HP:0001315	Reduced tendon reflexes	57731	SPTBN4	OMIM:617519
HP:0001315	Reduced tendon reflexes	8139	GAN	ORPHA:643
HP:0001315	Reduced tendon reflexes	8139	GAN	OMIM:256850
HP:0001315	Reduced tendon reflexes	55331	ACER3	OMIM:617762
HP:0001315	Reduced tendon reflexes	79587	CARS2	OMIM:616672
HP:0001315	Reduced tendon reflexes	8398	PLA2G6	OMIM:256600
HP:0001315	Reduced tendon reflexes	8449	DHX16	OMIM:618733
HP:0001315	Reduced tendon reflexes	3265	HRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	3845	KRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	4893	NRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	338	APOB	OMIM:615558
HP:0001315	Reduced tendon reflexes	5309	PITX3	OMIM:610623
HP:0001315	Reduced tendon reflexes	2671	GFER	ORPHA:330054
HP:0001315	Reduced tendon reflexes	1776	DNASE1L3	ORPHA:36412
HP:0001315	Reduced tendon reflexes	4591	TRIM37	ORPHA:2576
HP:0001315	Reduced tendon reflexes	81839	VANGL1	ORPHA:3027
HP:0001315	Reduced tendon reflexes	80199	FUZ	ORPHA:3027
HP:0001315	Reduced tendon reflexes	6872	TAF1	OMIM:300966
HP:0001315	Reduced tendon reflexes	3074	HEXB	ORPHA:309169
HP:0001315	Reduced tendon reflexes	6492	SIM1	ORPHA:398079
HP:0001315	Reduced tendon reflexes	472	ATM	OMIM:208900
HP:0001315	Reduced tendon reflexes	57462	MYORG	OMIM:618317
HP:0001315	Reduced tendon reflexes	25782	RAB3GAP2	OMIM:212720
HP:0001315	Reduced tendon reflexes	4512	MT-CO1	ORPHA:99845
HP:0001315	Reduced tendon reflexes	4514	MT-CO3	ORPHA:99845
HP:0001315	Reduced tendon reflexes	6329	SCN4A	ORPHA:98913
HP:0001315	Reduced tendon reflexes	6329	SCN4A	ORPHA:682
HP:0001315	Reduced tendon reflexes	1134	CHRNA1	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1140	CHRNB1	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1144	CHRND	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1145	CHRNE	ORPHA:98913
HP:0001315	Reduced tendon reflexes	4593	MUSK	ORPHA:98913
HP:0001315	Reduced tendon reflexes	5913	RAPSN	ORPHA:98913
HP:0001315	Reduced tendon reflexes	221264	AK9	ORPHA:98913
HP:0001315	Reduced tendon reflexes	285489	DOK7	ORPHA:98913
HP:0001315	Reduced tendon reflexes	34	ACADM	ORPHA:42
HP:0001315	Reduced tendon reflexes	6023	RMRP	ORPHA:175
HP:0001315	Reduced tendon reflexes	84992	PIGY	ORPHA:247262
HP:0001315	Reduced tendon reflexes	84720	PIGO	ORPHA:247262
HP:0001315	Reduced tendon reflexes	93210	PGAP3	ORPHA:247262
HP:0001315	Reduced tendon reflexes	284098	PIGW	ORPHA:247262
HP:0001315	Reduced tendon reflexes	27315	PGAP2	ORPHA:247262
HP:0001315	Reduced tendon reflexes	55650	PIGV	ORPHA:247262
HP:0001315	Reduced tendon reflexes	9487	PIGL	ORPHA:247262
HP:0001315	Reduced tendon reflexes	2067	ERCC1	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2073	ERCC5	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2073	ERCC5	ORPHA:910
HP:0001315	Reduced tendon reflexes	54551	MAGEL2	ORPHA:398069
HP:0001315	Reduced tendon reflexes	5351	PLOD1	ORPHA:1900
HP:0001315	Reduced tendon reflexes	2010	EMD	ORPHA:98863
HP:0001315	Reduced tendon reflexes	60681	FKBP10	ORPHA:1149
HP:0001315	Reduced tendon reflexes	4509	MT-ATP8	ORPHA:480
HP:0001315	Reduced tendon reflexes	54344	DPM3	ORPHA:263494
HP:0001315	Reduced tendon reflexes	55670	PEX26	ORPHA:912
HP:0001315	Reduced tendon reflexes	5824	PEX19	ORPHA:912
HP:0001315	Reduced tendon reflexes	9409	PEX16	ORPHA:912
HP:0001315	Reduced tendon reflexes	5194	PEX13	ORPHA:912
HP:0001315	Reduced tendon reflexes	5696	PSMB8	OMIM:256040
HP:0001315	Reduced tendon reflexes	79188	TMEM43	ORPHA:98853
HP:0001315	Reduced tendon reflexes	23224	SYNE2	ORPHA:98853
HP:0001315	Reduced tendon reflexes	7508	XPC	ORPHA:910
HP:0001315	Reduced tendon reflexes	1643	DDB2	ORPHA:910
HP:0001315	Reduced tendon reflexes	2072	ERCC4	ORPHA:910
HP:0001315	Reduced tendon reflexes	2395	FXN	OMIM:229300
HP:0001315	Reduced tendon reflexes	2395	FXN	ORPHA:95
HP:0001315	Reduced tendon reflexes	2733	GLE1	OMIM:611890
HP:0001315	Reduced tendon reflexes	1674	DES	ORPHA:98909
HP:0001315	Reduced tendon reflexes	80208	SPG11	OMIM:616668
HP:0001315	Reduced tendon reflexes	4618	MYF6	ORPHA:169189
HP:0001315	Reduced tendon reflexes	5611	DNAJC3	OMIM:616192
HP:0001315	Reduced tendon reflexes	5611	DNAJC3	ORPHA:445062
HP:0001315	Reduced tendon reflexes	8557	TCAP	OMIM:601954
HP:0001315	Reduced tendon reflexes	8884	SLC5A6	OMIM:619903
HP:0001315	Reduced tendon reflexes	84876	ORAI1	OMIM:615883
HP:0001315	Reduced tendon reflexes	374393	FAM111B	OMIM:615704
HP:0001315	Reduced tendon reflexes	3710	ITPR3	OMIM:620111
HP:0001315	Reduced tendon reflexes	6786	STIM1	OMIM:160565
HP:0001315	Reduced tendon reflexes	23769	FLRT1	ORPHA:320406
HP:0001315	Reduced tendon reflexes	25923	ATL3	OMIM:615632
HP:0001315	Reduced tendon reflexes	9517	SPTLC2	OMIM:613640
HP:0001315	Reduced tendon reflexes	22868	FASTKD2	OMIM:618855
HP:0001315	Reduced tendon reflexes	5582	PRKCG	ORPHA:98763
HP:0001315	Reduced tendon reflexes	4287	ATXN3	OMIM:109150
HP:0001315	Reduced tendon reflexes	8988	HSPB3	OMIM:613376
HP:0001315	Reduced tendon reflexes	64837	KLC2	OMIM:609541
HP:0001315	Reduced tendon reflexes	55958	KLHL9	ORPHA:399081
HP:0001315	Reduced tendon reflexes	5375	PMP2	OMIM:618279
HP:0001315	Reduced tendon reflexes	23204	ARL6IP1	OMIM:615685
HP:0001315	Reduced tendon reflexes	3035	HARS1	ORPHA:488333
HP:0001315	Reduced tendon reflexes	3035	HARS1	OMIM:616625
HP:0001315	Reduced tendon reflexes	26278	SACS	OMIM:270550
HP:0001315	Reduced tendon reflexes	26278	SACS	ORPHA:98
HP:0001315	Reduced tendon reflexes	10280	SIGMAR1	OMIM:605726
HP:0001315	Reduced tendon reflexes	5832	ALDH18A1	ORPHA:447757
HP:0001315	Reduced tendon reflexes	5832	ALDH18A1	ORPHA:447760
HP:0001315	Reduced tendon reflexes	10020	GNE	ORPHA:602
HP:0001315	Reduced tendon reflexes	2632	GBE1	OMIM:263570
HP:0001315	Reduced tendon reflexes	1861	TOR1A	OMIM:128100
HP:0001315	Reduced tendon reflexes	5700	PSMC1	OMIM:620071
HP:0001315	Reduced tendon reflexes	3977	LIFR	OMIM:601559
HP:0001315	Reduced tendon reflexes	3977	LIFR	ORPHA:3206
HP:0001315	Reduced tendon reflexes	81545	FBXO38	OMIM:615575
HP:0001315	Reduced tendon reflexes	8291	DYSF	OMIM:254130
HP:0001315	Reduced tendon reflexes	5165	PDK3	OMIM:300905
HP:0001315	Reduced tendon reflexes	122622	ADSS1	ORPHA:482601
HP:0001315	Reduced tendon reflexes	3032	HADHB	ORPHA:746
HP:0001315	Reduced tendon reflexes	3030	HADHA	ORPHA:746
HP:0001315	Reduced tendon reflexes	11155	LDB3	ORPHA:98912
HP:0001315	Reduced tendon reflexes	10516	FBLN5	OMIM:608895
HP:0001315	Reduced tendon reflexes	10079	ATP9A	OMIM:620242
HP:0001315	Reduced tendon reflexes	22943	DKK1	ORPHA:268882
HP:0001315	Reduced tendon reflexes	6548	SLC9A1	OMIM:616291
HP:0001315	Reduced tendon reflexes	7504	XK	OMIM:300842
HP:0001315	Reduced tendon reflexes	51	ACOX1	OMIM:618960
HP:0001315	Reduced tendon reflexes	3315	HSPB1	OMIM:606595
HP:0001315	Reduced tendon reflexes	8869	ST3GAL5	OMIM:609056
HP:0001315	Reduced tendon reflexes	81570	CLPB	OMIM:616271
HP:0001317	Abnormal cerebellum morphology	10749	KIF1C	ORPHA:397946
HP:0001317	Abnormal cerebellum morphology	10749	KIF1C	OMIM:611302
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	OMIM:109150
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276238
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276244
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276241
HP:0001317	Abnormal cerebellum morphology	23646	PLD3	OMIM:617770
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:614381
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:619742
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:607694
HP:0001317	Abnormal cerebellum morphology	26235	FBXL4	OMIM:615471
HP:0001317	Abnormal cerebellum morphology	4099	MAG	OMIM:616680
HP:0001317	Abnormal cerebellum morphology	51399	TRAPPC4	OMIM:618741
HP:0001317	Abnormal cerebellum morphology	3703	STT3A	OMIM:615596
HP:0001317	Abnormal cerebellum morphology	3703	STT3A	ORPHA:370921
HP:0001317	Abnormal cerebellum morphology	55823	VPS11	OMIM:616683
HP:0001317	Abnormal cerebellum morphology	55823	VPS11	ORPHA:466934
HP:0001317	Abnormal cerebellum morphology	51569	UFM1	OMIM:617899
HP:0001317	Abnormal cerebellum morphology	23446	SLC44A1	OMIM:618868
HP:0001317	Abnormal cerebellum morphology	2895	GRID2	OMIM:616204
HP:0001317	Abnormal cerebellum morphology	6659	SOX4	OMIM:618506
HP:0001317	Abnormal cerebellum morphology	201595	STT3B	OMIM:615597
HP:0001317	Abnormal cerebellum morphology	201595	STT3B	ORPHA:370924
HP:0001317	Abnormal cerebellum morphology	60684	TRAPPC11	OMIM:615356
HP:0001317	Abnormal cerebellum morphology	100996717	NOTCH2NLC	OMIM:618866
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	OMIM:619835
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	OMIM:616271
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	ORPHA:445038
HP:0001317	Abnormal cerebellum morphology	1786	DNMT1	ORPHA:314404
HP:0001317	Abnormal cerebellum morphology	1786	DNMT1	OMIM:604121
HP:0001317	Abnormal cerebellum morphology	10159	ATP6AP2	ORPHA:93952
HP:0001317	Abnormal cerebellum morphology	10159	ATP6AP2	OMIM:300423
HP:0001317	Abnormal cerebellum morphology	5521	PPP2R2B	OMIM:604326
HP:0001317	Abnormal cerebellum morphology	5521	PPP2R2B	ORPHA:98762
HP:0001317	Abnormal cerebellum morphology	6687	SPG7	ORPHA:99013
HP:0001317	Abnormal cerebellum morphology	6687	SPG7	OMIM:607259
HP:0001317	Abnormal cerebellum morphology	3074	HEXB	ORPHA:309162
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	ORPHA:139480
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	OMIM:215470
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	OMIM:612020
HP:0001317	Abnormal cerebellum morphology	65993	MRPS34	OMIM:617664
HP:0001317	Abnormal cerebellum morphology	10300	KATNB1	OMIM:616212
HP:0001317	Abnormal cerebellum morphology	10300	KATNB1	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	8722	CTSF	OMIM:615362
HP:0001317	Abnormal cerebellum morphology	56997	COQ8A	ORPHA:139485
HP:0001317	Abnormal cerebellum morphology	56997	COQ8A	OMIM:612016
HP:0001317	Abnormal cerebellum morphology	10026	PIGK	OMIM:618879
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	OMIM:619605
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	OMIM:602481
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	478	ATP1A3	OMIM:619606
HP:0001317	Abnormal cerebellum morphology	478	ATP1A3	ORPHA:71517
HP:0001317	Abnormal cerebellum morphology	10501	SEMA6B	OMIM:618876
HP:0001317	Abnormal cerebellum morphology	84520	GON7	OMIM:619603
HP:0001317	Abnormal cerebellum morphology	55768	NGLY1	ORPHA:404454
HP:0001317	Abnormal cerebellum morphology	79693	YRDC	OMIM:619609
HP:0001317	Abnormal cerebellum morphology	146057	TTBK2	OMIM:604432
HP:0001317	Abnormal cerebellum morphology	535	ATP6V0A1	OMIM:619971
HP:0001317	Abnormal cerebellum morphology	7345	UCHL1	OMIM:615491
HP:0001317	Abnormal cerebellum morphology	347733	TUBB2B	ORPHA:300573
HP:0001317	Abnormal cerebellum morphology	7343	UBTF	OMIM:617672
HP:0001317	Abnormal cerebellum morphology	816	CAMK2B	OMIM:617799
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	OMIM:619738
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	ORPHA:572798
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	OMIM:617710
HP:0001317	Abnormal cerebellum morphology	3064	HTT	OMIM:617435
HP:0001317	Abnormal cerebellum morphology	3064	HTT	OMIM:143100
HP:0001317	Abnormal cerebellum morphology	3064	HTT	ORPHA:248111
HP:0001317	Abnormal cerebellum morphology	7436	VLDLR	OMIM:224050
HP:0001317	Abnormal cerebellum morphology	9326	ZNHIT3	ORPHA:2836
HP:0001317	Abnormal cerebellum morphology	9326	ZNHIT3	OMIM:260565
HP:0001317	Abnormal cerebellum morphology	547	KIF1A	ORPHA:2836
HP:0001317	Abnormal cerebellum morphology	547	KIF1A	OMIM:610357
HP:0001317	Abnormal cerebellum morphology	547	KIF1A	OMIM:614255
HP:0001317	Abnormal cerebellum morphology	8560	DEGS1	OMIM:618404
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	ORPHA:313772
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	OMIM:610246
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	OMIM:614487
HP:0001317	Abnormal cerebellum morphology	1130	LYST	ORPHA:167
HP:0001317	Abnormal cerebellum morphology	343641	TGM6	ORPHA:276193
HP:0001317	Abnormal cerebellum morphology	343641	TGM6	OMIM:613908
HP:0001317	Abnormal cerebellum morphology	10715	CERS1	OMIM:616230
HP:0001317	Abnormal cerebellum morphology	84504	NKX6-2	OMIM:617560
HP:0001317	Abnormal cerebellum morphology	84504	NKX6-2	ORPHA:527497
HP:0001317	Abnormal cerebellum morphology	10935	PRDX3	OMIM:619862
HP:0001317	Abnormal cerebellum morphology	2744	GLS	OMIM:618412
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	OMIM:615386
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	OMIM:600224
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	ORPHA:98766
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	ORPHA:352403
HP:0001317	Abnormal cerebellum morphology	83636	C19orf12	OMIM:614298
HP:0001317	Abnormal cerebellum morphology	833	CARS1	OMIM:618891
HP:0001317	Abnormal cerebellum morphology	57178	ZMIZ1	OMIM:618659
HP:0001317	Abnormal cerebellum morphology	246243	RNASEH1	OMIM:616479
HP:0001317	Abnormal cerebellum morphology	51761	ATP8A2	OMIM:615268
HP:0001317	Abnormal cerebellum morphology	54840	APTX	OMIM:208920
HP:0001317	Abnormal cerebellum morphology	79731	NARS2	OMIM:616239
HP:0001317	Abnormal cerebellum morphology	6905	TBCE	OMIM:617207
HP:0001317	Abnormal cerebellum morphology	6905	TBCE	ORPHA:496756
HP:0001317	Abnormal cerebellum morphology	950	SCARB2	OMIM:254900
HP:0001317	Abnormal cerebellum morphology	5373	PMM2	OMIM:212065
HP:0001317	Abnormal cerebellum morphology	253738	EBF3	OMIM:617330
HP:0001317	Abnormal cerebellum morphology	1186	CLCN7	OMIM:618541
HP:0001317	Abnormal cerebellum morphology	55621	TRMT1	OMIM:618302
HP:0001317	Abnormal cerebellum morphology	51604	PIGT	OMIM:615398
HP:0001317	Abnormal cerebellum morphology	51604	PIGT	ORPHA:369837
HP:0001317	Abnormal cerebellum morphology	55280	CWF19L1	OMIM:616127
HP:0001317	Abnormal cerebellum morphology	3098	HK1	OMIM:618547
HP:0001317	Abnormal cerebellum morphology	8021	NUP214	OMIM:618426
HP:0001317	Abnormal cerebellum morphology	4191	MDH2	OMIM:617339
HP:0001317	Abnormal cerebellum morphology	150468	CKAP2L	OMIM:272440
HP:0001317	Abnormal cerebellum morphology	285362	SUMF1	OMIM:272200
HP:0001317	Abnormal cerebellum morphology	56052	ALG1	ORPHA:79327
HP:0001317	Abnormal cerebellum morphology	79796	ALG9	ORPHA:79328
HP:0001317	Abnormal cerebellum morphology	79796	ALG9	OMIM:608776
HP:0001317	Abnormal cerebellum morphology	3766	KCNJ10	ORPHA:199343
HP:0001317	Abnormal cerebellum morphology	3766	KCNJ10	OMIM:612780
HP:0001317	Abnormal cerebellum morphology	55210	ATAD3A	ORPHA:496790
HP:0001317	Abnormal cerebellum morphology	55210	ATAD3A	OMIM:617183
HP:0001317	Abnormal cerebellum morphology	9533	POLR1C	OMIM:616494
HP:0001317	Abnormal cerebellum morphology	54828	BCAS3	OMIM:619641
HP:0001317	Abnormal cerebellum morphology	8733	GPAA1	ORPHA:529665
HP:0001317	Abnormal cerebellum morphology	8733	GPAA1	OMIM:617810
HP:0001317	Abnormal cerebellum morphology	5621	PRNP	ORPHA:157941
HP:0001317	Abnormal cerebellum morphology	5621	PRNP	OMIM:137440
HP:0001317	Abnormal cerebellum morphology	2232	FDXR	ORPHA:543470
HP:0001317	Abnormal cerebellum morphology	56947	MFF	ORPHA:485421
HP:0001317	Abnormal cerebellum morphology	56947	MFF	OMIM:617086
HP:0001317	Abnormal cerebellum morphology	23400	ATP13A2	OMIM:617225
HP:0001317	Abnormal cerebellum morphology	23400	ATP13A2	ORPHA:513436
HP:0001317	Abnormal cerebellum morphology	10531	PITRM1	OMIM:619405
HP:0001317	Abnormal cerebellum morphology	146227	BEAN1	ORPHA:217012
HP:0001317	Abnormal cerebellum morphology	146227	BEAN1	OMIM:117210
HP:0001317	Abnormal cerebellum morphology	256471	MFSD8	OMIM:610951
HP:0001317	Abnormal cerebellum morphology	91949	COG7	ORPHA:79333
HP:0001317	Abnormal cerebellum morphology	91949	COG7	OMIM:608779
HP:0001317	Abnormal cerebellum morphology	23556	PIGN	OMIM:614080
HP:0001317	Abnormal cerebellum morphology	23556	PIGN	ORPHA:280633
HP:0001317	Abnormal cerebellum morphology	51651	PTRH2	OMIM:616263
HP:0001317	Abnormal cerebellum morphology	23007	PLCH1	OMIM:619895
HP:0001317	Abnormal cerebellum morphology	23162	MAPK8IP3	OMIM:618443
HP:0001317	Abnormal cerebellum morphology	197258	FCSK	OMIM:618324
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	OMIM:616267
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	OMIM:613402
HP:0001317	Abnormal cerebellum morphology	259232	NALCN	OMIM:616266
HP:0001317	Abnormal cerebellum morphology	339855	KY	ORPHA:496689
HP:0001317	Abnormal cerebellum morphology	125988	MICOS13	OMIM:618329
HP:0001317	Abnormal cerebellum morphology	29960	MRM2	OMIM:618567
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	ORPHA:1947
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	OMIM:600143
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	OMIM:610003
HP:0001317	Abnormal cerebellum morphology	8813	DPM1	ORPHA:79322
HP:0001317	Abnormal cerebellum morphology	57192	MCOLN1	OMIM:252650
HP:0001317	Abnormal cerebellum morphology	10195	ALG3	OMIM:601110
HP:0001317	Abnormal cerebellum morphology	58497	PRUNE1	OMIM:617481
HP:0001317	Abnormal cerebellum morphology	58497	PRUNE1	ORPHA:544469
HP:0001317	Abnormal cerebellum morphology	5111	PCNA	ORPHA:438134
HP:0001317	Abnormal cerebellum morphology	5111	PCNA	OMIM:615919
HP:0001317	Abnormal cerebellum morphology	3980	LIG3	OMIM:619780
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	OMIM:619425
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	OMIM:610131
HP:0001317	Abnormal cerebellum morphology	5277	PIGA	OMIM:301072
HP:0001317	Abnormal cerebellum morphology	6792	CDKL5	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	3736	KCNA1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	3736	KCNA1	ORPHA:37612
HP:0001317	Abnormal cerebellum morphology	9091	PIGQ	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2775	GNAO1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2775	GNAO1	OMIM:617493
HP:0001317	Abnormal cerebellum morphology	81603	TRIM8	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2902	GRIN1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2902	GRIN1	OMIM:614254
HP:0001317	Abnormal cerebellum morphology	79751	SLC25A22	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	150094	SIK1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	8573	CASK	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	23312	DMXL2	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2917	GRM7	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2917	GRM7	OMIM:618922
HP:0001317	Abnormal cerebellum morphology	170302	ARX	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	6326	SCN2A	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	51227	PIGP	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	6324	SCN1B	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	4761	NEUROD2	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	1203	CLN5	ORPHA:228360
HP:0001317	Abnormal cerebellum morphology	1203	CLN5	OMIM:256731
HP:0001317	Abnormal cerebellum morphology	291	SLC25A4	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	50484	RRM2B	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	23111	SPART	OMIM:275900
HP:0001317	Abnormal cerebellum morphology	10059	DNM1L	ORPHA:330050
HP:0001317	Abnormal cerebellum morphology	10059	DNM1L	ORPHA:98673
HP:0001317	Abnormal cerebellum morphology	8925	HERC1	OMIM:617011
HP:0001317	Abnormal cerebellum morphology	79876	UBA5	OMIM:617132
HP:0001317	Abnormal cerebellum morphology	79876	UBA5	OMIM:617133
HP:0001317	Abnormal cerebellum morphology	10466	COG5	ORPHA:263487
HP:0001317	Abnormal cerebellum morphology	10466	COG5	OMIM:613612
HP:0001317	Abnormal cerebellum morphology	9759	HDAC4	OMIM:619797
HP:0001317	Abnormal cerebellum morphology	23516	SLC39A14	OMIM:617013
HP:0001317	Abnormal cerebellum morphology	23516	SLC39A14	ORPHA:521406
HP:0001317	Abnormal cerebellum morphology	8506	CNTNAP1	OMIM:616286
HP:0001317	Abnormal cerebellum morphology	8506	CNTNAP1	OMIM:618186
HP:0001317	Abnormal cerebellum morphology	23345	SYNE1	ORPHA:88644
HP:0001317	Abnormal cerebellum morphology	23345	SYNE1	OMIM:610743
HP:0001317	Abnormal cerebellum morphology	51728	POLR3K	OMIM:619310
HP:0001317	Abnormal cerebellum morphology	10785	WDR4	OMIM:618347
HP:0001317	Abnormal cerebellum morphology	4719	NDUFS1	OMIM:618226
HP:0001317	Abnormal cerebellum morphology	51412	ACTL6B	OMIM:618468
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	ORPHA:208513
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	OMIM:206700
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	ORPHA:98769
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	OMIM:606658
HP:0001317	Abnormal cerebellum morphology	6507	SLC1A3	ORPHA:209967
HP:0001317	Abnormal cerebellum morphology	6507	SLC1A3	OMIM:612656
HP:0001317	Abnormal cerebellum morphology	128869	PIGU	OMIM:618590
HP:0001317	Abnormal cerebellum morphology	6548	SLC9A1	OMIM:616291
HP:0001317	Abnormal cerebellum morphology	55610	VPS50	OMIM:619685
HP:0001317	Abnormal cerebellum morphology	7084	TK2	ORPHA:254886
HP:0001317	Abnormal cerebellum morphology	81790	RNF170	OMIM:619686
HP:0001317	Abnormal cerebellum morphology	23102	TBC1D2B	OMIM:619323
HP:0001317	Abnormal cerebellum morphology	23114	NFASC	OMIM:618356
HP:0001317	Abnormal cerebellum morphology	6647	SOD1	OMIM:618598
HP:0001317	Abnormal cerebellum morphology	92667	MGME1	OMIM:615084
HP:0001317	Abnormal cerebellum morphology	92667	MGME1	ORPHA:352447
HP:0001317	Abnormal cerebellum morphology	25814	ATXN10	OMIM:603516
HP:0001317	Abnormal cerebellum morphology	25814	ATXN10	ORPHA:98761
HP:0001317	Abnormal cerebellum morphology	5649	RELN	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	54820	NDE1	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	51601	LIPT1	OMIM:616299
HP:0001317	Abnormal cerebellum morphology	8878	SQSTM1	OMIM:617145
HP:0001317	Abnormal cerebellum morphology	29078	NDUFAF4	OMIM:618237
HP:0001317	Abnormal cerebellum morphology	11152	WDR45	ORPHA:329284
HP:0001317	Abnormal cerebellum morphology	11152	WDR45	OMIM:300894
HP:0001317	Abnormal cerebellum morphology	154881	KCTD7	OMIM:611726
HP:0001317	Abnormal cerebellum morphology	154881	KCTD7	ORPHA:263516
HP:0001317	Abnormal cerebellum morphology	9179	AP4M1	OMIM:612936
HP:0001317	Abnormal cerebellum morphology	9179	AP4M1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	6904	TBCD	ORPHA:496641
HP:0001317	Abnormal cerebellum morphology	6904	TBCD	OMIM:617193
HP:0001317	Abnormal cerebellum morphology	4976	OPA1	ORPHA:98673
HP:0001317	Abnormal cerebellum morphology	4976	OPA1	OMIM:210000
HP:0001317	Abnormal cerebellum morphology	5934	RBL2	OMIM:619690
HP:0001317	Abnormal cerebellum morphology	25929	GEMIN5	OMIM:619333
HP:0001317	Abnormal cerebellum morphology	4621	MYH3	OMIM:193700
HP:0001317	Abnormal cerebellum morphology	56915	EXOSC5	OMIM:619576
HP:0001317	Abnormal cerebellum morphology	10588	MTHFS	OMIM:618367
HP:0001317	Abnormal cerebellum morphology	63925	ZNF335	OMIM:615095
HP:0001317	Abnormal cerebellum morphology	4704	NDUFA9	OMIM:618247
HP:0001317	Abnormal cerebellum morphology	55572	FOXRED1	OMIM:618241
HP:0001317	Abnormal cerebellum morphology	3746	KCNC1	OMIM:616187
HP:0001317	Abnormal cerebellum morphology	8120	AP3B2	OMIM:617276
HP:0001317	Abnormal cerebellum morphology	54834	GDAP2	OMIM:618369
HP:0001317	Abnormal cerebellum morphology	7965	AIMP2	OMIM:618006
HP:0001317	Abnormal cerebellum morphology	51079	NDUFA13	OMIM:618249
HP:0001317	Abnormal cerebellum morphology	26999	CYFIP2	OMIM:618008
HP:0001317	Abnormal cerebellum morphology	1201	CLN3	ORPHA:228346
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	OMIM:183086
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	OMIM:141500
HP:0001317	Abnormal cerebellum morphology	112476	PRRT2	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	6323	SCN1A	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	2898	GRIK2	OMIM:619580
HP:0001317	Abnormal cerebellum morphology	5611	DNAJC3	OMIM:616192
HP:0001317	Abnormal cerebellum morphology	5611	DNAJC3	ORPHA:445062
HP:0001317	Abnormal cerebellum morphology	2332	FMR1	OMIM:300623
HP:0001317	Abnormal cerebellum morphology	10524	KAT5	OMIM:619103
HP:0001317	Abnormal cerebellum morphology	372	ARCN1	OMIM:617164
HP:0001317	Abnormal cerebellum morphology	2705	GJB1	OMIM:302800
HP:0001317	Abnormal cerebellum morphology	523	ATP6V1A	OMIM:618012
HP:0001317	Abnormal cerebellum morphology	2257	FGF12	OMIM:617166
HP:0001317	Abnormal cerebellum morphology	2071	ERCC3	OMIM:610651
HP:0001317	Abnormal cerebellum morphology	1200	TPP1	OMIM:609270
HP:0001317	Abnormal cerebellum morphology	1200	TPP1	ORPHA:284324
HP:0001317	Abnormal cerebellum morphology	220296	HEPACAM	OMIM:613925
HP:0001317	Abnormal cerebellum morphology	1938	EEF2	ORPHA:101112
HP:0001317	Abnormal cerebellum morphology	1938	EEF2	OMIM:609306
HP:0001317	Abnormal cerebellum morphology	65260	COA7	OMIM:618387
HP:0001317	Abnormal cerebellum morphology	23316	CUX2	OMIM:618141
HP:0001317	Abnormal cerebellum morphology	64849	SLC13A3	OMIM:618384
HP:0001317	Abnormal cerebellum morphology	94005	PIGS	OMIM:618143
HP:0001317	Abnormal cerebellum morphology	4361	MRE11	ORPHA:251347
HP:0001317	Abnormal cerebellum morphology	4361	MRE11	OMIM:604391
HP:0001317	Abnormal cerebellum morphology	1528	CYB5A	ORPHA:621
HP:0001317	Abnormal cerebellum morphology	1727	CYB5R3	ORPHA:621
HP:0001317	Abnormal cerebellum morphology	2571	GAD1	OMIM:619124
HP:0001317	Abnormal cerebellum morphology	6872	TAF1	OMIM:300966
HP:0001317	Abnormal cerebellum morphology	90522	YIF1B	OMIM:619125
HP:0001317	Abnormal cerebellum morphology	84340	GFM2	OMIM:618397
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	ORPHA:171629
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	ORPHA:329308
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	OMIM:612319
HP:0001317	Abnormal cerebellum morphology	57038	RARS2	OMIM:611523
HP:0001317	Abnormal cerebellum morphology	57704	GBA2	ORPHA:320391
HP:0001317	Abnormal cerebellum morphology	57704	GBA2	OMIM:614409
HP:0001317	Abnormal cerebellum morphology	2799	GNS	OMIM:252940
HP:0001317	Abnormal cerebellum morphology	9895	TECPR2	ORPHA:320385
HP:0001317	Abnormal cerebellum morphology	6389	SDHA	OMIM:619259
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	ORPHA:412057
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	OMIM:618093
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	OMIM:615768
HP:0001317	Abnormal cerebellum morphology	383	ARG1	OMIM:207800
HP:0001317	Abnormal cerebellum morphology	3295	HSD17B4	OMIM:261515
HP:0001317	Abnormal cerebellum morphology	3295	HSD17B4	OMIM:233400
HP:0001317	Abnormal cerebellum morphology	54936	ADPRS	OMIM:618170
HP:0001317	Abnormal cerebellum morphology	79644	SRD5A3	ORPHA:324737
HP:0001317	Abnormal cerebellum morphology	27072	VPS41	OMIM:619389
HP:0001317	Abnormal cerebellum morphology	84274	COQ5	OMIM:619028
HP:0001317	Abnormal cerebellum morphology	221927	BRAT1	OMIM:618056
HP:0001317	Abnormal cerebellum morphology	10535	RNASEH2A	OMIM:610333
HP:0001317	Abnormal cerebellum morphology	11342	RNF13	ORPHA:544503
HP:0001317	Abnormal cerebellum morphology	27445	PCLO	OMIM:608027
HP:0001317	Abnormal cerebellum morphology	64858	DCLRE1B	OMIM:620133
HP:0001317	Abnormal cerebellum morphology	55129	ANO10	OMIM:613728
HP:0001317	Abnormal cerebellum morphology	55129	ANO10	ORPHA:284289
HP:0001317	Abnormal cerebellum morphology	60481	ELOVL5	ORPHA:423296
HP:0001317	Abnormal cerebellum morphology	25792	CIZ1	ORPHA:420492
HP:0001317	Abnormal cerebellum morphology	64374	SIL1	OMIM:248800
HP:0001317	Abnormal cerebellum morphology	4702	NDUFA8	OMIM:619272
HP:0001317	Abnormal cerebellum morphology	10134	BCAP31	OMIM:300475
HP:0001317	Abnormal cerebellum morphology	10134	BCAP31	ORPHA:369939
HP:0001317	Abnormal cerebellum morphology	158	ADSL	OMIM:103050
HP:0001317	Abnormal cerebellum morphology	51102	MECR	ORPHA:508093
HP:0001317	Abnormal cerebellum morphology	7355	SLC35A2	ORPHA:356961
HP:0001317	Abnormal cerebellum morphology	347734	SLC35B2	OMIM:620269
HP:0001317	Abnormal cerebellum morphology	2896	GRN	OMIM:614706
HP:0001317	Abnormal cerebellum morphology	10667	FARS2	OMIM:614946
HP:0001317	Abnormal cerebellum morphology	23126	POGZ	ORPHA:468678
HP:0001317	Abnormal cerebellum morphology	200205	IBA57	ORPHA:468661
HP:0001317	Abnormal cerebellum morphology	9442	MED27	OMIM:619286
HP:0001317	Abnormal cerebellum morphology	25914	RTTN	OMIM:614833
HP:0001317	Abnormal cerebellum morphology	25914	RTTN	ORPHA:468631
HP:0001317	Abnormal cerebellum morphology	54476	RNF216	OMIM:212840
HP:0001317	Abnormal cerebellum morphology	23431	AP4E1	OMIM:613744
HP:0001317	Abnormal cerebellum morphology	23431	AP4E1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	4884	NPTX1	OMIM:620158
HP:0001317	Abnormal cerebellum morphology	51324	SPG21	OMIM:248900
HP:0001317	Abnormal cerebellum morphology	64207	IRF2BPL	OMIM:618088
HP:0001317	Abnormal cerebellum morphology	55157	DARS2	ORPHA:137898
HP:0001317	Abnormal cerebellum morphology	5173	PDYN	OMIM:610245
HP:0001317	Abnormal cerebellum morphology	1509	CTSD	OMIM:610127
HP:0001317	Abnormal cerebellum morphology	80856	LNPK	OMIM:618090
HP:0001317	Abnormal cerebellum morphology	1327	COX4I1	OMIM:619060
HP:0001317	Abnormal cerebellum morphology	23203	PMPCA	ORPHA:1170
HP:0001317	Abnormal cerebellum morphology	7156	TOP3A	OMIM:618098
HP:0001317	Abnormal cerebellum morphology	26090	ABHD12	OMIM:612674
HP:0001317	Abnormal cerebellum morphology	55775	TDP1	OMIM:607250
HP:0001317	Abnormal cerebellum morphology	84342	COG8	ORPHA:95428
HP:0001317	Abnormal cerebellum morphology	84342	COG8	OMIM:611182
HP:0001317	Abnormal cerebellum morphology	1600	DAB1	OMIM:615945
HP:0001317	Abnormal cerebellum morphology	10382	TUBB4A	OMIM:612438
HP:0001317	Abnormal cerebellum morphology	84947	SERAC1	OMIM:614739
HP:0001317	Abnormal cerebellum morphology	9711	RUBCN	OMIM:615705
HP:0001317	Abnormal cerebellum morphology	6908	TBP	OMIM:607136
HP:0001317	Abnormal cerebellum morphology	6908	TBP	ORPHA:98759
HP:0001317	Abnormal cerebellum morphology	7915	ALDH5A1	OMIM:271980
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	OMIM:620174
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	ORPHA:98764
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	OMIM:193003
HP:0001317	Abnormal cerebellum morphology	3475	IFRD1	ORPHA:98771
HP:0001317	Abnormal cerebellum morphology	3752	KCND3	ORPHA:98772
HP:0001317	Abnormal cerebellum morphology	3752	KCND3	OMIM:607346
HP:0001317	Abnormal cerebellum morphology	1267	CNP	OMIM:619071
HP:0001317	Abnormal cerebellum morphology	5828	PEX2	OMIM:614866
HP:0001317	Abnormal cerebellum morphology	5828	PEX2	OMIM:614867
HP:0001317	Abnormal cerebellum morphology	90624	LYRM7	OMIM:615838
HP:0001317	Abnormal cerebellum morphology	1282	COL4A1	OMIM:175780
HP:0001317	Abnormal cerebellum morphology	3748	KCNC3	ORPHA:98768
HP:0001317	Abnormal cerebellum morphology	3748	KCNC3	OMIM:605259
HP:0001317	Abnormal cerebellum morphology	83475	DOHH	OMIM:620066
HP:0001317	Abnormal cerebellum morphology	724066	ATXN8	ORPHA:98760
HP:0001317	Abnormal cerebellum morphology	724066	ATXN8	OMIM:608768
HP:0001317	Abnormal cerebellum morphology	6315	ATXN8OS	ORPHA:98760
HP:0001317	Abnormal cerebellum morphology	6315	ATXN8OS	OMIM:608768
HP:0001317	Abnormal cerebellum morphology	492	ATP2B3	OMIM:302500
HP:0001317	Abnormal cerebellum morphology	255928	SYT14	ORPHA:284271
HP:0001317	Abnormal cerebellum morphology	255928	SYT14	OMIM:614229
HP:0001317	Abnormal cerebellum morphology	5192	PEX10	OMIM:614871
HP:0001317	Abnormal cerebellum morphology	9409	PEX16	OMIM:614877
HP:0001317	Abnormal cerebellum morphology	64135	IFIH1	OMIM:615846
HP:0001317	Abnormal cerebellum morphology	25828	TXN2	OMIM:616811
HP:0001317	Abnormal cerebellum morphology	7274	TTPA	OMIM:277460
HP:0001317	Abnormal cerebellum morphology	22880	MORC2	OMIM:619090
HP:0001317	Abnormal cerebellum morphology	22880	MORC2	ORPHA:466768
HP:0001317	Abnormal cerebellum morphology	55275	VPS53	OMIM:615851
HP:0001317	Abnormal cerebellum morphology	1384	CRAT	OMIM:617917
HP:0001317	Abnormal cerebellum morphology	64116	SLC39A8	ORPHA:468699
HP:0001317	Abnormal cerebellum morphology	64116	SLC39A8	OMIM:616721
HP:0001317	Abnormal cerebellum morphology	200403	VWA3B	OMIM:616948
HP:0001317	Abnormal cerebellum morphology	85021	REPS1	OMIM:617916
HP:0001317	Abnormal cerebellum morphology	57017	COQ9	OMIM:614654
HP:0001317	Abnormal cerebellum morphology	55690	PACS1	ORPHA:329224
HP:0001317	Abnormal cerebellum morphology	22907	DHX30	OMIM:617804
HP:0001317	Abnormal cerebellum morphology	79628	SH3TC2	ORPHA:99949
HP:0001317	Abnormal cerebellum morphology	7407	VARS1	OMIM:617802
HP:0001317	Abnormal cerebellum morphology	339453	TMEM240	OMIM:607454
HP:0001317	Abnormal cerebellum morphology	23064	SETX	OMIM:606002
HP:0001317	Abnormal cerebellum morphology	1861	TOR1A	OMIM:128100
HP:0001317	Abnormal cerebellum morphology	92935	MARS2	OMIM:611390
HP:0001317	Abnormal cerebellum morphology	92935	MARS2	OMIM:616430
HP:0001317	Abnormal cerebellum morphology	80207	OPA3	ORPHA:67036
HP:0001317	Abnormal cerebellum morphology	6334	SCN8A	OMIM:614306
HP:0001317	Abnormal cerebellum morphology	7545	ZIC1	OMIM:616602
HP:0001317	Abnormal cerebellum morphology	55187	VPS13D	OMIM:607317
HP:0001317	Abnormal cerebellum morphology	57505	AARS2	OMIM:615889
HP:0001317	Abnormal cerebellum morphology	50	ACO2	OMIM:614559
HP:0001317	Abnormal cerebellum morphology	2891	GRIA2	OMIM:618917
HP:0001317	Abnormal cerebellum morphology	4694	NDUFA1	OMIM:301020
HP:0001317	Abnormal cerebellum morphology	23732	FRRS1L	OMIM:616981
HP:0001317	Abnormal cerebellum morphology	63035	BCORL1	OMIM:301029
HP:0001317	Abnormal cerebellum morphology	9512	PMPCB	OMIM:617954
HP:0001317	Abnormal cerebellum morphology	6709	SPTAN1	OMIM:613477
HP:0001317	Abnormal cerebellum morphology	51741	WWOX	OMIM:614322
HP:0001317	Abnormal cerebellum morphology	2058	EPRS1	OMIM:617951
HP:0001317	Abnormal cerebellum morphology	5582	PRKCG	OMIM:605361
HP:0001317	Abnormal cerebellum morphology	5422	POLA1	OMIM:301030
HP:0001317	Abnormal cerebellum morphology	84188	FAR1	ORPHA:438178
HP:0001317	Abnormal cerebellum morphology	57511	COG6	OMIM:614576
HP:0001317	Abnormal cerebellum morphology	23065	EMC1	OMIM:616875
HP:0001317	Abnormal cerebellum morphology	128637	TBC1D20	OMIM:615663
HP:0001317	Abnormal cerebellum morphology	5981	RFC1	OMIM:614575
HP:0001317	Abnormal cerebellum morphology	55644	OSGEP	OMIM:617729
HP:0001317	Abnormal cerebellum morphology	9997	SCO2	OMIM:604377
HP:0001317	Abnormal cerebellum morphology	8270	LAGE3	OMIM:301006
HP:0001317	Abnormal cerebellum morphology	80781	COL18A1	OMIM:267750
HP:0001317	Abnormal cerebellum morphology	122553	TRAPPC6B	OMIM:617862
HP:0001317	Abnormal cerebellum morphology	7222	TRPC3	OMIM:616410
HP:0001317	Abnormal cerebellum morphology	80210	ARMC9	OMIM:617622
HP:0001317	Abnormal cerebellum morphology	2670	GFAP	ORPHA:363717
HP:0001317	Abnormal cerebellum morphology	55704	CCDC88A	OMIM:617507
HP:0001317	Abnormal cerebellum morphology	55164	SHQ1	OMIM:619922
HP:0001317	Abnormal cerebellum morphology	6785	ELOVL4	OMIM:133190
HP:0001317	Abnormal cerebellum morphology	617	BCS1L	OMIM:124000
HP:0001317	Abnormal cerebellum morphology	10717	AP4B1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	11154	AP4S1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	9197	SLC33A1	OMIM:614482
HP:0001317	Abnormal cerebellum morphology	4724	NDUFS4	OMIM:252010
HP:0001317	Abnormal cerebellum morphology	7515	XRCC1	OMIM:617633
HP:0001317	Abnormal cerebellum morphology	133686	NADK2	ORPHA:431361
HP:0001317	Abnormal cerebellum morphology	23533	PIK3R5	OMIM:615217
HP:0001317	Abnormal cerebellum morphology	3778	KCNMA1	OMIM:618729
HP:0001317	Abnormal cerebellum morphology	3778	KCNMA1	OMIM:617643
HP:0001317	Abnormal cerebellum morphology	51075	TMX2	OMIM:618730
HP:0001317	Abnormal cerebellum morphology	8884	SLC5A6	OMIM:618973
HP:0001317	Abnormal cerebellum morphology	23404	EXOSC2	OMIM:617763
HP:0001317	Abnormal cerebellum morphology	79587	CARS2	OMIM:616672
HP:0001317	Abnormal cerebellum morphology	2196	FAT2	OMIM:617769
HP:0001317	Abnormal cerebellum morphology	267010	RNU12	ORPHA:512260
HP:0001317	Abnormal cerebellum morphology	10682	EBP	ORPHA:401973
HP:0001317	Abnormal cerebellum morphology	10682	EBP	OMIM:300960
HP:0001317	Abnormal cerebellum morphology	10682	EBP	OMIM:302960
HP:0001317	Abnormal cerebellum morphology	56896	DPYSL5	OMIM:619435
HP:0001317	Abnormal cerebellum morphology	55112	DYNC2I1	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	57560	IFT80	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	57539	WDR35	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	89891	DYNC2I2	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	1436	CSF1R	OMIM:618476
HP:0001317	Abnormal cerebellum morphology	4081	MAB21L1	OMIM:618479
HP:0001317	Abnormal cerebellum morphology	84892	POMGNT2	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	79068	FTO	OMIM:612938
HP:0001317	Abnormal cerebellum morphology	57492	ARID1B	OMIM:135900
HP:0001317	Abnormal cerebellum morphology	57492	ARID1B	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	3899	AFF3	OMIM:619297
HP:0001317	Abnormal cerebellum morphology	6597	SMARCA4	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6597	SMARCA4	OMIM:614609
HP:0001317	Abnormal cerebellum morphology	6598	SMARCB1	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6598	SMARCB1	OMIM:614608
HP:0001317	Abnormal cerebellum morphology	8289	ARID1A	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	8289	ARID1A	OMIM:614607
HP:0001317	Abnormal cerebellum morphology	5977	DPF2	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6601	SMARCC2	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6602	SMARCD1	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	196528	ARID2	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6605	SMARCE1	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6605	SMARCE1	OMIM:616938
HP:0001317	Abnormal cerebellum morphology	6664	SOX11	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001317	Abnormal cerebellum morphology	23545	ATP6V0A2	OMIM:219200
HP:0001317	Abnormal cerebellum morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001317	Abnormal cerebellum morphology	1801	DPH1	OMIM:616901
HP:0001317	Abnormal cerebellum morphology	1801	DPH1	ORPHA:459061
HP:0001317	Abnormal cerebellum morphology	27315	PGAP2	OMIM:614207
HP:0001317	Abnormal cerebellum morphology	157570	ESCO2	ORPHA:2319
HP:0001317	Abnormal cerebellum morphology	5340	PLG	ORPHA:722
HP:0001317	Abnormal cerebellum morphology	5340	PLG	OMIM:217090
HP:0001317	Abnormal cerebellum morphology	84314	TMEM107	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	79867	TCTN2	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	80776	B9D2	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	80776	B9D2	OMIM:614175
HP:0001317	Abnormal cerebellum morphology	79600	TCTN1	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	79583	TMEM231	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	79583	TMEM231	ORPHA:2752
HP:0001317	Abnormal cerebellum morphology	79770	TXNDC15	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	27077	B9D1	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	OMIM:267010
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	OMIM:208540
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	ORPHA:3032
HP:0001317	Abnormal cerebellum morphology	23258	DENND5A	OMIM:617281
HP:0001317	Abnormal cerebellum morphology	171023	ASXL1	ORPHA:97297
HP:0001317	Abnormal cerebellum morphology	171023	ASXL1	OMIM:605039
HP:0001317	Abnormal cerebellum morphology	2683	B4GALT1	OMIM:607091
HP:0001317	Abnormal cerebellum morphology	2683	B4GALT1	ORPHA:79332
HP:0001317	Abnormal cerebellum morphology	26005	C2CD3	OMIM:615948
HP:0001317	Abnormal cerebellum morphology	26005	C2CD3	ORPHA:434179
HP:0001317	Abnormal cerebellum morphology	26227	PHGDH	OMIM:256520
HP:0001317	Abnormal cerebellum morphology	10804	GJB6	ORPHA:477
HP:0001317	Abnormal cerebellum morphology	2706	GJB2	ORPHA:477
HP:0001317	Abnormal cerebellum morphology	4927	NUP88	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	7846	TUBA1A	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	4654	MYOD1	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	4593	MUSK	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	5913	RAPSN	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	6572	SLC18A3	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	285489	DOK7	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	56006	SMG9	OMIM:616920
HP:0001317	Abnormal cerebellum morphology	51524	TMEM138	OMIM:614465
HP:0001317	Abnormal cerebellum morphology	4534	MTM1	OMIM:310400
HP:0001317	Abnormal cerebellum morphology	54880	BCOR	OMIM:300166
HP:0001317	Abnormal cerebellum morphology	203068	TUBB	OMIM:156610
HP:0001317	Abnormal cerebellum morphology	55640	FLVCR2	OMIM:225790
HP:0001317	Abnormal cerebellum morphology	5500	PPP1CB	OMIM:617506
HP:0001317	Abnormal cerebellum morphology	54676	GTPBP2	OMIM:617988
HP:0001317	Abnormal cerebellum morphology	2239	GPC4	ORPHA:373
HP:0001317	Abnormal cerebellum morphology	2719	GPC3	ORPHA:373
HP:0001317	Abnormal cerebellum morphology	2121	EVC	OMIM:225500
HP:0001317	Abnormal cerebellum morphology	132884	EVC2	OMIM:225500
HP:0001317	Abnormal cerebellum morphology	153241	CEP120	OMIM:616300
HP:0001317	Abnormal cerebellum morphology	529	ATP6V1E1	ORPHA:357074
HP:0001317	Abnormal cerebellum morphology	3798	KIF5A	OMIM:617235
HP:0001317	Abnormal cerebellum morphology	1028	CDKN1C	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	3481	IGF2	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	3784	KCNQ1	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	738	VPS51	OMIM:618606
HP:0001317	Abnormal cerebellum morphology	1376	CPT2	ORPHA:228305
HP:0001317	Abnormal cerebellum morphology	219844	HYLS1	OMIM:236680
HP:0001317	Abnormal cerebellum morphology	9420	CYP7B1	ORPHA:100986
HP:0001317	Abnormal cerebellum morphology	9420	CYP7B1	OMIM:270800
HP:0001317	Abnormal cerebellum morphology	5626	PROP1	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	89884	LHX4	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	8022	LHX3	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	5449	POU1F1	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	4508	MT-ATP6	ORPHA:320360
HP:0001317	Abnormal cerebellum morphology	8314	BAP1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	4771	NF2	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	4771	NF2	ORPHA:637
HP:0001317	Abnormal cerebellum morphology	84231	TRAF7	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	207	AKT1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	207	AKT1	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	55746	NUP133	OMIM:618349
HP:0001317	Abnormal cerebellum morphology	8050	PDHX	ORPHA:255182
HP:0001317	Abnormal cerebellum morphology	10613	ERLIN1	ORPHA:401785
HP:0001317	Abnormal cerebellum morphology	10613	ERLIN1	OMIM:615681
HP:0001317	Abnormal cerebellum morphology	23503	ZFYVE26	OMIM:270700
HP:0001317	Abnormal cerebellum morphology	23503	ZFYVE26	ORPHA:100996
HP:0001317	Abnormal cerebellum morphology	2521	FUS	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	80208	SPG11	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	10280	SIGMAR1	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	10558	SPTLC1	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	57679	ALS2	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	9101	USP8	ORPHA:401795
HP:0001317	Abnormal cerebellum morphology	6609	SMPD1	ORPHA:77293
HP:0001317	Abnormal cerebellum morphology	80224	NUBPL	OMIM:618242
HP:0001317	Abnormal cerebellum morphology	84668	HYCC1	ORPHA:85163
HP:0001317	Abnormal cerebellum morphology	84668	HYCC1	OMIM:610532
HP:0001317	Abnormal cerebellum morphology	9968	MED12	ORPHA:93932
HP:0001317	Abnormal cerebellum morphology	8139	GAN	ORPHA:643
HP:0001317	Abnormal cerebellum morphology	8139	GAN	OMIM:256850
HP:0001317	Abnormal cerebellum morphology	3119	HLA-DQB1	OMIM:123400
HP:0001317	Abnormal cerebellum morphology	5832	ALDH18A1	ORPHA:447753
HP:0001317	Abnormal cerebellum morphology	10483	SEC23B	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6390	SDHB	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6392	SDHD	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6391	SDHC	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	205717	USF3	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	2583	B4GALNT1	ORPHA:101006
HP:0001317	Abnormal cerebellum morphology	80331	DNAJC5	OMIM:162350
HP:0001317	Abnormal cerebellum morphology	22884	WDR37	OMIM:618652
HP:0001317	Abnormal cerebellum morphology	113278	SLC52A3	OMIM:211530
HP:0001317	Abnormal cerebellum morphology	27183	VPS4A	OMIM:619273
HP:0001317	Abnormal cerebellum morphology	10128	LRPPRC	OMIM:220111
HP:0001317	Abnormal cerebellum morphology	54892	NCAPG2	OMIM:618460
HP:0001317	Abnormal cerebellum morphology	4750	NEK1	OMIM:263520
HP:0001317	Abnormal cerebellum morphology	23241	PACS2	OMIM:618067
HP:0001317	Abnormal cerebellum morphology	26160	IFT172	OMIM:615630
HP:0001317	Abnormal cerebellum morphology	55733	HHAT	OMIM:600092
HP:0001317	Abnormal cerebellum morphology	8496	PPFIBP1	OMIM:620024
HP:0001317	Abnormal cerebellum morphology	64324	NSD1	ORPHA:821
HP:0001317	Abnormal cerebellum morphology	10297	APC2	ORPHA:821
HP:0001317	Abnormal cerebellum morphology	9578	CDC42BPB	OMIM:619841
HP:0001317	Abnormal cerebellum morphology	3020	H3-3A	OMIM:619720
HP:0001317	Abnormal cerebellum morphology	219854	TMEM218	OMIM:619562
HP:0001317	Abnormal cerebellum morphology	219854	TMEM218	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	473	RERE	OMIM:616975
HP:0001317	Abnormal cerebellum morphology	473	RERE	ORPHA:494344
HP:0001317	Abnormal cerebellum morphology	7280	TUBB2A	OMIM:615763
HP:0001317	Abnormal cerebellum morphology	95681	CEP41	ORPHA:220493
HP:0001317	Abnormal cerebellum morphology	95681	CEP41	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	29968	PSAT1	OMIM:610992
HP:0001317	Abnormal cerebellum morphology	29968	PSAT1	ORPHA:284417
HP:0001317	Abnormal cerebellum morphology	57082	KNL1	OMIM:604321
HP:0001317	Abnormal cerebellum morphology	55777	MBD5	OMIM:156200
HP:0001317	Abnormal cerebellum morphology	10381	TUBB3	ORPHA:467166
HP:0001317	Abnormal cerebellum morphology	10381	TUBB3	ORPHA:300570
HP:0001317	Abnormal cerebellum morphology	22930	RAB3GAP1	OMIM:600118
HP:0001317	Abnormal cerebellum morphology	22930	RAB3GAP1	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	1778	DYNC1H1	OMIM:614563
HP:0001317	Abnormal cerebellum morphology	23090	ZNF423	OMIM:614844
HP:0001317	Abnormal cerebellum morphology	23090	ZNF423	ORPHA:2318
HP:0001317	Abnormal cerebellum morphology	22897	CEP164	OMIM:614845
HP:0001317	Abnormal cerebellum morphology	54974	THG1L	OMIM:618800
HP:0001317	Abnormal cerebellum morphology	93627	TBCK	OMIM:616900
HP:0001317	Abnormal cerebellum morphology	1063	CENPF	OMIM:243605
HP:0001317	Abnormal cerebellum morphology	23116	TOGARAM1	OMIM:619185
HP:0001317	Abnormal cerebellum morphology	23116	TOGARAM1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	7703	PCGF2	OMIM:618371
HP:0001317	Abnormal cerebellum morphology	127833	SYT2	OMIM:619461
HP:0001317	Abnormal cerebellum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001317	Abnormal cerebellum morphology	545	ATR	OMIM:210600
HP:0001317	Abnormal cerebellum morphology	60386	SLC25A19	ORPHA:99742
HP:0001317	Abnormal cerebellum morphology	60386	SLC25A19	OMIM:607196
HP:0001317	Abnormal cerebellum morphology	2296	FOXC1	OMIM:602482
HP:0001317	Abnormal cerebellum morphology	2296	FOXC1	OMIM:601631
HP:0001317	Abnormal cerebellum morphology	8241	RBM10	OMIM:311900
HP:0001317	Abnormal cerebellum morphology	51684	SUFU	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	OMIM:277170
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	200894	ARL13B	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	9731	CEP104	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	23247	KATNIP	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	23247	KATNIP	OMIM:616784
HP:0001317	Abnormal cerebellum morphology	10464	PIBF1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	25776	CBY1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	2615	LRRC32	OMIM:619074
HP:0001317	Abnormal cerebellum morphology	4352	MPL	OMIM:604498
HP:0001317	Abnormal cerebellum morphology	163786	SASS6	OMIM:616402
HP:0001317	Abnormal cerebellum morphology	29957	SLC25A24	OMIM:612289
HP:0001317	Abnormal cerebellum morphology	51692	CPSF3	OMIM:619876
HP:0001317	Abnormal cerebellum morphology	10236	HNRNPR	OMIM:620073
HP:0001317	Abnormal cerebellum morphology	51611	DPH5	OMIM:620070
HP:0001317	Abnormal cerebellum morphology	22983	MAST1	OMIM:618273
HP:0001317	Abnormal cerebellum morphology	90416	CCDC32	OMIM:619123
HP:0001317	Abnormal cerebellum morphology	5591	PRKDC	OMIM:615966
HP:0001317	Abnormal cerebellum morphology	54499	TMCO1	ORPHA:1394
HP:0001317	Abnormal cerebellum morphology	79971	WLS	OMIM:619648
HP:0001317	Abnormal cerebellum morphology	79633	FAT4	ORPHA:314679
HP:0001317	Abnormal cerebellum morphology	8642	DCHS1	ORPHA:314679
HP:0001317	Abnormal cerebellum morphology	55691	FRMD4A	OMIM:616819
HP:0001317	Abnormal cerebellum morphology	55691	FRMD4A	ORPHA:466688
HP:0001317	Abnormal cerebellum morphology	3187	HNRNPH1	OMIM:620083
HP:0001317	Abnormal cerebellum morphology	57724	EPG5	OMIM:242840
HP:0001317	Abnormal cerebellum morphology	57020	VPS35L	OMIM:619135
HP:0001317	Abnormal cerebellum morphology	4123	MAN2C1	OMIM:619775
HP:0001317	Abnormal cerebellum morphology	2806	GOT2	OMIM:618721
HP:0001317	Abnormal cerebellum morphology	84081	NSRP1	OMIM:620001
HP:0001317	Abnormal cerebellum morphology	5048	PAFAH1B1	ORPHA:95232
HP:0001317	Abnormal cerebellum morphology	9939	RBM8A	OMIM:274000
HP:0001317	Abnormal cerebellum morphology	22931	RAB18	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	10079	ATP9A	OMIM:620242
HP:0001317	Abnormal cerebellum morphology	10210	TOPORS	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	317662	FAM149B1	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	9896	FIG4	OMIM:216340
HP:0001317	Abnormal cerebellum morphology	23299	BICD2	OMIM:618291
HP:0001317	Abnormal cerebellum morphology	129285	PPP1R21	OMIM:619383
HP:0001317	Abnormal cerebellum morphology	79023	NUP37	OMIM:618179
HP:0001317	Abnormal cerebellum morphology	8295	TRRAP	OMIM:618454
HP:0001317	Abnormal cerebellum morphology	9181	ARHGEF2	OMIM:617523
HP:0001317	Abnormal cerebellum morphology	9230	RAB11B	OMIM:617807
HP:0001317	Abnormal cerebellum morphology	11113	CIT	OMIM:617090
HP:0001317	Abnormal cerebellum morphology	11253	MAN1B1	ORPHA:397941
HP:0001317	Abnormal cerebellum morphology	11253	MAN1B1	OMIM:614202
HP:0001317	Abnormal cerebellum morphology	83700	JAM3	OMIM:613730
HP:0001317	Abnormal cerebellum morphology	55627	SMPD4	OMIM:618622
HP:0001317	Abnormal cerebellum morphology	55325	UFSP2	OMIM:620028
HP:0001317	Abnormal cerebellum morphology	1736	DKC1	OMIM:305000
HP:0001317	Abnormal cerebellum morphology	1736	DKC1	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	5457	POU4F1	ORPHA:314647
HP:0001317	Abnormal cerebellum morphology	23261	CAMTA1	ORPHA:314647
HP:0001317	Abnormal cerebellum morphology	23261	CAMTA1	OMIM:614756
HP:0001317	Abnormal cerebellum morphology	85300	ATCAY	ORPHA:94122
HP:0001317	Abnormal cerebellum morphology	85300	ATCAY	OMIM:601238
HP:0001317	Abnormal cerebellum morphology	57176	VARS2	OMIM:615917
HP:0001317	Abnormal cerebellum morphology	80232	WDR26	ORPHA:513456
HP:0001317	Abnormal cerebellum morphology	5932	RBBP8	OMIM:606744
HP:0001317	Abnormal cerebellum morphology	51506	UFC1	OMIM:618076
HP:0001317	Abnormal cerebellum morphology	10730	YME1L1	OMIM:617302
HP:0001317	Abnormal cerebellum morphology	51112	TRAPPC12	OMIM:617669
HP:0001317	Abnormal cerebellum morphology	55780	ERMARD	ORPHA:75857
HP:0001317	Abnormal cerebellum morphology	7015	TERT	OMIM:613989
HP:0001317	Abnormal cerebellum morphology	7015	TERT	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	7015	TERT	OMIM:127550
HP:0001317	Abnormal cerebellum morphology	271	AMPD2	OMIM:615809
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:613990
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:268130
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:127550
HP:0001317	Abnormal cerebellum morphology	1020	CDK5	OMIM:616342
HP:0001317	Abnormal cerebellum morphology	5119	CHMP1A	OMIM:614961
HP:0001317	Abnormal cerebellum morphology	6773	STAT2	OMIM:618886
HP:0001317	Abnormal cerebellum morphology	157680	VPS13B	OMIM:216550
HP:0001317	Abnormal cerebellum morphology	55697	VAC14	ORPHA:3472
HP:0001317	Abnormal cerebellum morphology	57498	KIDINS220	OMIM:619501
HP:0001317	Abnormal cerebellum morphology	5073	PARN	OMIM:616353
HP:0001317	Abnormal cerebellum morphology	5073	PARN	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	23036	ZNF292	OMIM:619188
HP:0001317	Abnormal cerebellum morphology	55154	MSTO1	ORPHA:502423
HP:0001317	Abnormal cerebellum morphology	4247	MGAT2	OMIM:212066
HP:0001317	Abnormal cerebellum morphology	4247	MGAT2	ORPHA:79329
HP:0001317	Abnormal cerebellum morphology	23265	EXOC7	OMIM:619072
HP:0001317	Abnormal cerebellum morphology	1798	DPAGT1	ORPHA:86309
HP:0001317	Abnormal cerebellum morphology	84879	MFSD2A	OMIM:616486
HP:0001317	Abnormal cerebellum morphology	55773	TBC1D23	OMIM:617695
HP:0001317	Abnormal cerebellum morphology	10013	HDAC6	ORPHA:163966
HP:0001317	Abnormal cerebellum morphology	6134	RPL10	ORPHA:459070
HP:0001317	Abnormal cerebellum morphology	6134	RPL10	OMIM:300998
HP:0001317	Abnormal cerebellum morphology	55165	CEP55	OMIM:236500
HP:0001317	Abnormal cerebellum morphology	5605	MAP2K2	OMIM:615280
HP:0001317	Abnormal cerebellum morphology	79813	EHMT1	ORPHA:261652
HP:0001317	Abnormal cerebellum morphology	58508	KMT2C	ORPHA:261652
HP:0001317	Abnormal cerebellum morphology	8818	DPM2	OMIM:615042
HP:0001317	Abnormal cerebellum morphology	8818	DPM2	ORPHA:329178
HP:0001317	Abnormal cerebellum morphology	9474	ATG5	OMIM:617584
HP:0001317	Abnormal cerebellum morphology	51322	WAC	ORPHA:284169
HP:0001317	Abnormal cerebellum morphology	55120	FANCL	OMIM:614083
HP:0001317	Abnormal cerebellum morphology	10735	STAG2	ORPHA:521258
HP:0001317	Abnormal cerebellum morphology	2146	EZH2	OMIM:277590
HP:0001317	Abnormal cerebellum morphology	29929	ALG6	ORPHA:79320
HP:0001317	Abnormal cerebellum morphology	51750	RTEL1	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	51750	RTEL1	OMIM:615190
HP:0001317	Abnormal cerebellum morphology	65057	ACD	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	65057	ACD	OMIM:616553
HP:0001317	Abnormal cerebellum morphology	79087	ALG12	ORPHA:79324
HP:0001317	Abnormal cerebellum morphology	10533	ATG7	OMIM:619422
HP:0001317	Abnormal cerebellum morphology	51645	PPIL1	OMIM:619301
HP:0001317	Abnormal cerebellum morphology	6576	SLC25A1	OMIM:615182
HP:0001317	Abnormal cerebellum morphology	51362	CDC40	OMIM:619302
HP:0001317	Abnormal cerebellum morphology	51117	COQ4	OMIM:616276
HP:0001317	Abnormal cerebellum morphology	55656	INTS8	OMIM:618572
HP:0001317	Abnormal cerebellum morphology	10243	GPHN	OMIM:615501
HP:0001317	Abnormal cerebellum morphology	51013	EXOSC1	OMIM:619304
HP:0001317	Abnormal cerebellum morphology	30000	TNPO2	OMIM:619556
HP:0001317	Abnormal cerebellum morphology	2187	FANCB	OMIM:300514
HP:0001317	Abnormal cerebellum morphology	2879	GPX4	ORPHA:93317
HP:0001317	Abnormal cerebellum morphology	55593	OTUD5	OMIM:301056
HP:0001317	Abnormal cerebellum morphology	1062	CENPE	OMIM:616051
HP:0001317	Abnormal cerebellum morphology	27185	DISC1	ORPHA:171703
HP:0001317	Abnormal cerebellum morphology	8320	EOMES	ORPHA:171703
HP:0001317	Abnormal cerebellum morphology	7012	TERC	OMIM:127550
HP:0001317	Abnormal cerebellum morphology	64221	ROBO3	OMIM:607313
HP:0001317	Abnormal cerebellum morphology	7547	ZIC3	OMIM:306955
HP:0001317	Abnormal cerebellum morphology	4784	NFIX	OMIM:602535
HP:0001317	Abnormal cerebellum morphology	4784	NFIX	ORPHA:561
HP:0001317	Abnormal cerebellum morphology	23221	RHOBTB2	OMIM:618004
HP:0001317	Abnormal cerebellum morphology	79641	ROGDI	OMIM:226750
HP:0001317	Abnormal cerebellum morphology	11274	USP18	OMIM:617397
HP:0001317	Abnormal cerebellum morphology	26007	TKFC	OMIM:618805
HP:0001317	Abnormal cerebellum morphology	6821	SUOX	OMIM:272300
HP:0001317	Abnormal cerebellum morphology	191	AHCY	ORPHA:88618
HP:0001317	Abnormal cerebellum morphology	4700	NDUFA6	OMIM:618253
HP:0001317	Abnormal cerebellum morphology	3188	HNRNPH2	OMIM:300986
HP:0001317	Abnormal cerebellum morphology	80347	COASY	OMIM:618266
HP:0001317	Abnormal cerebellum morphology	340075	ARSI	ORPHA:401815
HP:0001317	Abnormal cerebellum morphology	57003	CCDC47	OMIM:618268
HP:0001317	Abnormal cerebellum morphology	112858	TP53RK	OMIM:617730
HP:0001317	Abnormal cerebellum morphology	27107	ZBTB11	OMIM:618383
HP:0001317	Abnormal cerebellum morphology	5162	PDHB	ORPHA:255138
HP:0001317	Abnormal cerebellum morphology	4841	NONO	OMIM:300967
HP:0001317	Abnormal cerebellum morphology	4841	NONO	ORPHA:466791
HP:0001317	Abnormal cerebellum morphology	51124	IER3IP1	OMIM:614231
HP:0001317	Abnormal cerebellum morphology	202018	TAPT1	OMIM:616897
HP:0001317	Abnormal cerebellum morphology	7291	TWIST1	OMIM:617746
HP:0001317	Abnormal cerebellum morphology	100506658	OCLN	OMIM:251290
HP:0001317	Abnormal cerebellum morphology	93587	TRMT10A	ORPHA:391408
HP:0001317	Abnormal cerebellum morphology	84919	PPP1R15B	ORPHA:391408
HP:0001317	Abnormal cerebellum morphology	259266	ASPM	OMIM:608716
HP:0001317	Abnormal cerebellum morphology	440	ASNS	OMIM:615574
HP:0001317	Abnormal cerebellum morphology	1719	DHFR	OMIM:613839
HP:0001317	Abnormal cerebellum morphology	55074	OXR1	OMIM:213000
HP:0001317	Abnormal cerebellum morphology	57647	DHX37	OMIM:618731
HP:0001317	Abnormal cerebellum morphology	18	ABAT	OMIM:613163
HP:0001317	Abnormal cerebellum morphology	1496	CTNNA2	OMIM:618174
HP:0001317	Abnormal cerebellum morphology	7471	WNT1	OMIM:615220
HP:0001317	Abnormal cerebellum morphology	498	ATP5F1A	OMIM:615228
HP:0001317	Abnormal cerebellum morphology	4953	ODC1	OMIM:619075
HP:0001317	Abnormal cerebellum morphology	9851	KIAA0753	OMIM:619479
HP:0001317	Abnormal cerebellum morphology	5879	RAC1	OMIM:617751
HP:0001317	Abnormal cerebellum morphology	64840	PORCN	OMIM:305600
HP:0001317	Abnormal cerebellum morphology	2294	FOXF1	OMIM:265380
HP:0001317	Abnormal cerebellum morphology	5251	PHEX	ORPHA:89936
HP:0001317	Abnormal cerebellum morphology	5447	POR	OMIM:201750
HP:0001317	Abnormal cerebellum morphology	5447	POR	ORPHA:95699
HP:0001317	Abnormal cerebellum morphology	6309	SC5D	ORPHA:46059
HP:0001317	Abnormal cerebellum morphology	6309	SC5D	OMIM:607330
HP:0001317	Abnormal cerebellum morphology	3590	IL11RA	OMIM:614188
HP:0001317	Abnormal cerebellum morphology	4659	PPP1R12A	OMIM:618820
HP:0001317	Abnormal cerebellum morphology	6804	STX1A	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	7461	CLIP2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	84277	DNAJC30	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	8468	FKBP6	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	5982	RFC2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	2969	GTF2I	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	3984	LIMK1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	9569	GTF2IRD1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	155382	VPS37D	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	155368	METTL27	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	114049	BUD23	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	7458	EIF4H	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	84163	GTF2IRD2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	9275	BCL7B	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	26608	TBL2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	653361	NCF1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	135886	TMEM270	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	51085	MLXIPL	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	9031	BAZ1B	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	2006	ELN	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	22800	RRAS2	OMIM:618624
HP:0001317	Abnormal cerebellum morphology	10992	SF3B2	OMIM:164210
HP:0001317	Abnormal cerebellum morphology	1788	DNMT3A	ORPHA:404443
HP:0001317	Abnormal cerebellum morphology	11128	POLR3A	OMIM:264090
HP:0001317	Abnormal cerebellum morphology	4796	TONSL	ORPHA:93357
HP:0001317	Abnormal cerebellum morphology	4796	TONSL	OMIM:271510
HP:0001317	Abnormal cerebellum morphology	81839	VANGL1	ORPHA:3027
HP:0001317	Abnormal cerebellum morphology	80199	FUZ	ORPHA:3027
HP:0001317	Abnormal cerebellum morphology	5745	PTH1R	OMIM:600002
HP:0001317	Abnormal cerebellum morphology	4125	MAN2B1	ORPHA:309282
HP:0001317	Abnormal cerebellum morphology	79718	TBL1XR1	OMIM:602342
HP:0001317	Abnormal cerebellum morphology	79718	TBL1XR1	ORPHA:487825
HP:0001317	Abnormal cerebellum morphology	1387	CREBBP	ORPHA:353281
HP:0001317	Abnormal cerebellum morphology	1387	CREBBP	ORPHA:353277
HP:0001317	Abnormal cerebellum morphology	29998	BICRA	OMIM:619325
HP:0001317	Abnormal cerebellum morphology	55159	RFWD3	OMIM:617784
HP:0001317	Abnormal cerebellum morphology	55215	FANCI	OMIM:609053
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	OMIM:123790
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:87
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:93260
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:207
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:93259
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	OMIM:101600
HP:0001317	Abnormal cerebellum morphology	2033	EP300	ORPHA:353284
HP:0001317	Abnormal cerebellum morphology	6299	SALL1	ORPHA:857
HP:0001317	Abnormal cerebellum morphology	51339	DACT1	ORPHA:857
HP:0001317	Abnormal cerebellum morphology	6595	SMARCA2	OMIM:619293
HP:0001317	Abnormal cerebellum morphology	23387	SIK3	OMIM:618162
HP:0001317	Abnormal cerebellum morphology	6651	SON	ORPHA:500150
HP:0001317	Abnormal cerebellum morphology	1108	CHD4	OMIM:617159
HP:0001317	Abnormal cerebellum morphology	7048	TGFBR2	OMIM:610168
HP:0001317	Abnormal cerebellum morphology	2077	ERF	ORPHA:207
HP:0001317	Abnormal cerebellum morphology	2316	FLNA	ORPHA:1826
HP:0001317	Abnormal cerebellum morphology	6885	MAP3K7	ORPHA:1826
HP:0001317	Abnormal cerebellum morphology	2776	GNAQ	ORPHA:3205
HP:0001317	Abnormal cerebellum morphology	1513	CTSK	ORPHA:763
HP:0001317	Abnormal cerebellum morphology	9401	RECQL4	OMIM:218600
HP:0001317	Abnormal cerebellum morphology	8091	HMGA2	ORPHA:94063
HP:0001317	Abnormal cerebellum morphology	23592	LEMD3	ORPHA:94063
HP:0001317	Abnormal cerebellum morphology	54903	MKS1	OMIM:249000
HP:0001317	Abnormal cerebellum morphology	29072	SETD2	OMIM:616831
HP:0001317	Abnormal cerebellum morphology	4854	NOTCH3	ORPHA:2789
HP:0001317	Abnormal cerebellum morphology	7046	TGFBR1	OMIM:609192
HP:0001317	Abnormal cerebellum morphology	2200	FBN1	ORPHA:2462
HP:0001317	Abnormal cerebellum morphology	6497	SKI	ORPHA:2462
HP:0001317	Abnormal cerebellum morphology	4853	NOTCH2	ORPHA:955
HP:0001317	Abnormal cerebellum morphology	4644	MYO5A	ORPHA:33445
HP:0001317	Abnormal cerebellum morphology	51763	INPP5K	ORPHA:559
HP:0001317	Abnormal cerebellum morphology	4208	MEF2C	ORPHA:228384
HP:0001317	Abnormal cerebellum morphology	60529	ALX4	OMIM:613451
HP:0001317	Abnormal cerebellum morphology	60529	ALX4	ORPHA:228390
HP:0001317	Abnormal cerebellum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001317	Abnormal cerebellum morphology	80184	CEP290	OMIM:611134
HP:0001317	Abnormal cerebellum morphology	80184	CEP290	OMIM:610188
HP:0001317	Abnormal cerebellum morphology	3839	KPNA3	OMIM:620106
HP:0001317	Abnormal cerebellum morphology	65062	TMEM237	OMIM:614424
HP:0001317	Abnormal cerebellum morphology	256297	PTF1A	OMIM:609069
HP:0001317	Abnormal cerebellum morphology	9839	ZEB2	ORPHA:261537
HP:0001317	Abnormal cerebellum morphology	9839	ZEB2	ORPHA:261552
HP:0001317	Abnormal cerebellum morphology	7020	TFAP2A	OMIM:113620
HP:0001317	Abnormal cerebellum morphology	11041	B4GAT1	OMIM:615287
HP:0001317	Abnormal cerebellum morphology	5147	PDE6D	OMIM:615665
HP:0001317	Abnormal cerebellum morphology	9928	KIF14	OMIM:616258
HP:0001317	Abnormal cerebellum morphology	4598	MVK	OMIM:610377
HP:0001317	Abnormal cerebellum morphology	26123	TCTN3	OMIM:614815
HP:0001317	Abnormal cerebellum morphology	84197	POMK	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	79659	DYNC2H1	OMIM:613091
HP:0001317	Abnormal cerebellum morphology	1281	COL3A1	OMIM:618343
HP:0001317	Abnormal cerebellum morphology	116461	TSEN15	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	79042	TSEN34	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	80746	TSEN2	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	51091	SEPSECS	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	8481	OFD1	OMIM:311200
HP:0001317	Abnormal cerebellum morphology	1605	DAG1	OMIM:616538
HP:0001317	Abnormal cerebellum morphology	1605	DAG1	ORPHA:370997
HP:0001317	Abnormal cerebellum morphology	729920	CRPPA	ORPHA:370980
HP:0001317	Abnormal cerebellum morphology	9361	LONP1	ORPHA:79243
HP:0001317	Abnormal cerebellum morphology	5160	PDHA1	ORPHA:79243
HP:0001317	Abnormal cerebellum morphology	4519	MT-CYB	ORPHA:137675
HP:0001317	Abnormal cerebellum morphology	1161	ERCC8	ORPHA:90324
HP:0001317	Abnormal cerebellum morphology	727676	SNORD118	ORPHA:542310
HP:0001317	Abnormal cerebellum morphology	6575	SLC20A2	OMIM:213600
HP:0001317	Abnormal cerebellum morphology	5155	PDGFB	OMIM:213600
HP:0001317	Abnormal cerebellum morphology	5159	PDGFRB	OMIM:213600
HP:0001317	Abnormal cerebellum morphology	54902	TTC19	OMIM:615157
HP:0001317	Abnormal cerebellum morphology	51360	MBTPS2	OMIM:308205
HP:0001317	Abnormal cerebellum morphology	2074	ERCC6	OMIM:278800
HP:0001317	Abnormal cerebellum morphology	27235	COQ2	OMIM:146500
HP:0001317	Abnormal cerebellum morphology	6310	ATXN1	OMIM:164400
HP:0001317	Abnormal cerebellum morphology	6314	ATXN7	OMIM:164500
HP:0001317	Abnormal cerebellum morphology	6311	ATXN2	OMIM:183090
HP:0001317	Abnormal cerebellum morphology	25782	RAB3GAP2	ORPHA:401830
HP:0001317	Abnormal cerebellum morphology	4281	MID1	ORPHA:2745
HP:0001317	Abnormal cerebellum morphology	95	ACY1	ORPHA:137754
HP:0001317	Abnormal cerebellum morphology	3769	KCNJ13	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	343035	RD3	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	145226	RDH12	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	1406	CRX	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	64802	NMNAT1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	57096	RPGRIP1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	10383	TUBB4B	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9742	IFT140	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	85015	USP45	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	6121	RPE65	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	23418	CRB1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	5130	PCYT1A	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9657	IQCB1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	392255	GDF6	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	23746	AIPL1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	3000	GUCY2D	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9227	LRAT	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	55812	SPATA7	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	7287	TULP1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	167691	LCA5	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	3614	IMPDH1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	80055	PGAP1	ORPHA:401820
HP:0001317	Abnormal cerebellum morphology	8450	CUL4B	OMIM:300354
HP:0001317	Abnormal cerebellum morphology	375	ARF1	OMIM:618185
HP:0001317	Abnormal cerebellum morphology	9698	PUM1	OMIM:617931
HP:0001317	Abnormal cerebellum morphology	4311	MME	OMIM:617018
HP:0001317	Abnormal cerebellum morphology	4311	MME	ORPHA:497764
HP:0001317	Abnormal cerebellum morphology	9254	CACNA2D2	OMIM:618501
HP:0001317	Abnormal cerebellum morphology	26047	CNTNAP2	ORPHA:163681
HP:0001317	Abnormal cerebellum morphology	5859	QARS1	OMIM:615760
HP:0001317	Abnormal cerebellum morphology	53335	BCL11A	OMIM:617101
HP:0001317	Abnormal cerebellum morphology	1742	DLG4	OMIM:618793
HP:0001317	Abnormal cerebellum morphology	4010	LMX1B	ORPHA:495818
HP:0001317	Abnormal cerebellum morphology	6812	STXBP1	ORPHA:495818
HP:0001317	Abnormal cerebellum morphology	11261	CHP1	OMIM:618438
HP:0001317	Abnormal cerebellum morphology	5354	PLP1	OMIM:312080
HP:0001317	Abnormal cerebellum morphology	116228	COX20	OMIM:619054
HP:0001317	Abnormal cerebellum morphology	7518	XRCC4	OMIM:616541
HP:0001317	Abnormal cerebellum morphology	57410	SCYL1	ORPHA:466794
HP:0001317	Abnormal cerebellum morphology	57410	SCYL1	OMIM:616719
HP:0001317	Abnormal cerebellum morphology	6095	RORA	OMIM:618060
HP:0001317	Abnormal cerebellum morphology	1213	CLTC	OMIM:617854
HP:0001317	Abnormal cerebellum morphology	440193	CCDC88C	OMIM:616053
HP:0001317	Abnormal cerebellum morphology	440193	CCDC88C	ORPHA:423275
HP:0001317	Abnormal cerebellum morphology	3908	LAMA2	ORPHA:258
HP:0001317	Abnormal cerebellum morphology	7428	VHL	ORPHA:892
HP:0001317	Abnormal cerebellum morphology	7428	VHL	OMIM:193300
HP:0001317	Abnormal cerebellum morphology	595	CCND1	ORPHA:892
HP:0001317	Abnormal cerebellum morphology	595	CCND1	OMIM:193300
HP:0001317	Abnormal cerebellum morphology	4983	OPHN1	OMIM:300486
HP:0001317	Abnormal cerebellum morphology	4983	OPHN1	ORPHA:137831
HP:0001317	Abnormal cerebellum morphology	2892	GRIA3	ORPHA:364028
HP:0001317	Abnormal cerebellum morphology	160418	TMTC3	OMIM:617255
HP:0001317	Abnormal cerebellum morphology	27245	AHDC1	ORPHA:412069
HP:0001317	Abnormal cerebellum morphology	27245	AHDC1	OMIM:615829
HP:0001317	Abnormal cerebellum morphology	2911	GRM1	OMIM:614831
HP:0001317	Abnormal cerebellum morphology	57688	ZSWIM6	ORPHA:1827
HP:0001317	Abnormal cerebellum morphology	57688	ZSWIM6	OMIM:603671
HP:0001317	Abnormal cerebellum morphology	57572	DOCK6	OMIM:614219
HP:0001317	Abnormal cerebellum morphology	114034	TOE1	ORPHA:284339
HP:0001317	Abnormal cerebellum morphology	9562	MINPP1	ORPHA:284339
HP:0001317	Abnormal cerebellum morphology	5518	PPP2R1A	ORPHA:457284
HP:0001317	Abnormal cerebellum morphology	283989	TSEN54	OMIM:225753
HP:0001317	Abnormal cerebellum morphology	10528	NOP56	ORPHA:276198
HP:0001317	Abnormal cerebellum morphology	8913	CACNA1G	OMIM:616795
HP:0001317	Abnormal cerebellum morphology	29899	GPSM2	OMIM:604213
HP:0001317	Abnormal cerebellum morphology	10367	MICU1	OMIM:615673
HP:0001317	Abnormal cerebellum morphology	998	CDC42	ORPHA:487796
HP:0001317	Abnormal cerebellum morphology	9289	ADGRG1	ORPHA:98889
HP:0001317	Abnormal cerebellum morphology	9289	ADGRG1	ORPHA:101070
HP:0001317	Abnormal cerebellum morphology	5297	PI4KA	ORPHA:98889
HP:0001317	Abnormal cerebellum morphology	5297	PI4KA	OMIM:616531
HP:0001317	Abnormal cerebellum morphology	27286	SRPX2	ORPHA:98889
HP:0001317	Abnormal cerebellum morphology	5728	PTEN	ORPHA:101070
HP:0001317	Abnormal cerebellum morphology	10329	RXYLT1	OMIM:615041
HP:0001317	Abnormal cerebellum morphology	84162	BLTP1	OMIM:617822
HP:0001317	Abnormal cerebellum morphology	57187	THOC2	ORPHA:457240
HP:0001317	Abnormal cerebellum morphology	9382	COG1	ORPHA:263508
HP:0001317	Abnormal cerebellum morphology	3417	IDH1	ORPHA:99646
HP:0001317	Abnormal cerebellum morphology	124997	WDR81	OMIM:610185
HP:0001317	Abnormal cerebellum morphology	1822	ATN1	OMIM:125370
HP:0001317	Abnormal cerebellum morphology	63895	PIEZO2	OMIM:248700
HP:0001317	Abnormal cerebellum morphology	3897	L1CAM	OMIM:304100
HP:0001317	Abnormal cerebellum morphology	2972	BRF1	ORPHA:444072
HP:0001317	Abnormal cerebellum morphology	652	BMP4	OMIM:607932
HP:0001317	Abnormal cerebellum morphology	652	BMP4	ORPHA:139471
HP:0001317	Abnormal cerebellum morphology	83696	TRAPPC9	OMIM:613192
HP:0001317	Abnormal cerebellum morphology	80816	ASXL3	OMIM:615485
HP:0001317	Abnormal cerebellum morphology	26173	INTS1	OMIM:618571
HP:0001317	Abnormal cerebellum morphology	4190	MDH1	OMIM:618959
HP:0001317	Abnormal cerebellum morphology	50628	GEMIN4	OMIM:617913
HP:0001317	Abnormal cerebellum morphology	6608	SMO	OMIM:601707
HP:0001317	Abnormal cerebellum morphology	6608	SMO	OMIM:241800
HP:0001317	Abnormal cerebellum morphology	4774	NFIA	OMIM:613735
HP:0001317	Abnormal cerebellum morphology	4774	NFIA	ORPHA:401986
HP:0001317	Abnormal cerebellum morphology	80036	TRPM3	OMIM:620224
HP:0001317	Abnormal cerebellum morphology	10283	CWC27	ORPHA:166035
HP:0001317	Abnormal cerebellum morphology	284058	KANSL1	ORPHA:363965
HP:0001317	Abnormal cerebellum morphology	284058	KANSL1	ORPHA:363958
HP:0001317	Abnormal cerebellum morphology	4094	MAF	ORPHA:1272
HP:0001317	Abnormal cerebellum morphology	4094	MAF	OMIM:601088
HP:0001317	Abnormal cerebellum morphology	8318	CDC45	OMIM:617063
HP:0001317	Abnormal cerebellum morphology	9772	TMEM94	OMIM:618316
HP:0001317	Abnormal cerebellum morphology	57551	TAOK1	OMIM:619575
HP:0001317	Abnormal cerebellum morphology	10274	STAG1	OMIM:617635
HP:0001317	Abnormal cerebellum morphology	4791	NFKB2	OMIM:615577
HP:0001317	Abnormal cerebellum morphology	22943	DKK1	ORPHA:268882
HP:0001317	Abnormal cerebellum morphology	79947	DHDDS	OMIM:617836
HP:0001317	Abnormal cerebellum morphology	5076	PAX2	OMIM:120330
HP:0001317	Abnormal cerebellum morphology	25970	SH2B1	ORPHA:261197
HP:0001317	Abnormal cerebellum morphology	5888	RAD51	OMIM:617244
HP:0001317	Abnormal cerebellum morphology	4858	NOVA2	OMIM:618859
HP:0001317	Abnormal cerebellum morphology	161742	SPRED1	ORPHA:137605
HP:0001317	Abnormal cerebellum morphology	26040	SETBP1	ORPHA:798
HP:0001317	Abnormal cerebellum morphology	5190	PEX6	ORPHA:95433
HP:0001317	Abnormal cerebellum morphology	58494	JAM2	OMIM:618824
HP:0001317	Abnormal cerebellum morphology	11277	TREX1	OMIM:225750
HP:0001317	Abnormal cerebellum morphology	23476	BRD4	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	9126	SMC3	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	8243	SMC1A	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	25836	NIPBL	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	55869	HDAC8	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	5885	RAD21	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	5396	PRRX1	ORPHA:990
HP:0001317	Abnormal cerebellum morphology	5015	OTX2	ORPHA:990
HP:0001317	Abnormal cerebellum morphology	5015	OTX2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	7399	USH2A	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	79955	PDZD7	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	4647	MYO7A	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	4647	MYO7A	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	25861	WHRN	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	84059	ADGRV1	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	27238	GPKOW	ORPHA:2570
HP:0001317	Abnormal cerebellum morphology	6197	RPS6KA3	ORPHA:192
HP:0001317	Abnormal cerebellum morphology	3265	HRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	3845	KRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	4893	NRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	5290	PIK3CA	ORPHA:60040
HP:0001317	Abnormal cerebellum morphology	8239	USP9X	ORPHA:480880
HP:0001317	Abnormal cerebellum morphology	11340	EXOSC8	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	5393	EXOSC9	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	23287	AGTPBP1	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	51010	EXOSC3	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	7443	VRK1	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	91137	SLC25A46	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	4567	MT-TL1	ORPHA:225
HP:0001317	Abnormal cerebellum morphology	4556	MT-TE	ORPHA:225
HP:0001317	Abnormal cerebellum morphology	4566	MT-TK	ORPHA:225
HP:0001317	Abnormal cerebellum morphology	148789	B3GALNT2	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	29925	GMPPB	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	79147	FKRP	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	9215	LARGE1	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	29954	POMT2	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	2218	FKTN	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	55624	POMGNT1	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	10585	POMT1	ORPHA:588
HP:0001317	Abnormal cerebellum morphology	8905	AP1S2	ORPHA:1568
HP:0001317	Abnormal cerebellum morphology	2737	GLI3	ORPHA:36
HP:0001317	Abnormal cerebellum morphology	374654	KIF7	ORPHA:36
HP:0001317	Abnormal cerebellum morphology	22858	CILK1	OMIM:612651
HP:0001317	Abnormal cerebellum morphology	9640	ZNF592	ORPHA:83472
HP:0001317	Abnormal cerebellum morphology	84942	WDR73	ORPHA:83472
HP:0001317	Abnormal cerebellum morphology	1717	DHCR7	ORPHA:818
HP:0001317	Abnormal cerebellum morphology	55636	CHD7	ORPHA:138
HP:0001317	Abnormal cerebellum morphology	9723	SEMA3E	ORPHA:138
HP:0001317	Abnormal cerebellum morphology	57231	SNX14	ORPHA:397709
HP:0001317	Abnormal cerebellum morphology	23499	MACF1	ORPHA:572013
HP:0001317	Abnormal cerebellum morphology	387119	CEP85L	ORPHA:572013
HP:0001317	Abnormal cerebellum morphology	389827	MYMK	ORPHA:1358
HP:0001317	Abnormal cerebellum morphology	101929726	MYMX	ORPHA:1358
HP:0001317	Abnormal cerebellum morphology	2261	FGFR3	ORPHA:93262
HP:0001317	Abnormal cerebellum morphology	10479	SLC9A6	ORPHA:85278
HP:0001317	Abnormal cerebellum morphology	2068	ERCC2	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	2067	ERCC1	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	2073	ERCC5	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	85378	TUBGCP6	ORPHA:2518
HP:0001317	Abnormal cerebellum morphology	27229	TUBGCP4	ORPHA:2518
HP:0001317	Abnormal cerebellum morphology	10733	PLK4	ORPHA:2518
HP:0001317	Abnormal cerebellum morphology	4693	NDP	ORPHA:649
HP:0001317	Abnormal cerebellum morphology	2697	GJA1	ORPHA:2710
HP:0001317	Abnormal cerebellum morphology	9897	WASHC5	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	28952	CCDC22	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	64072	CDH23	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	10083	USH1C	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	124590	USH1G	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	83715	ESPN	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	10518	CIB2	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	65217	PCDH15	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	4524	MTHFR	ORPHA:563612
HP:0001317	Abnormal cerebellum morphology	57216	VANGL2	ORPHA:563612
HP:0001317	Abnormal cerebellum morphology	10815	CPLX1	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	54872	PIGG	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	7469	NELFA	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	1487	CTBP1	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	3954	LETM1	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	7468	NSD2	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	9184	BUB3	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	699	BUB1	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	9702	CEP57	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	9319	TRIP13	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	701	BUB1B	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	57545	CC2D2A	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	219285	SAMD9L	ORPHA:2585
HP:0001317	Abnormal cerebellum morphology	2260	FGFR1	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	128674	PROKR2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	6657	SOX2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	6658	SOX3	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	9915	ARNT2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	8820	HESX1	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	4668	NAGA	ORPHA:79279
HP:0001317	Abnormal cerebellum morphology	79944	L2HGDH	ORPHA:79314
HP:0001317	Abnormal cerebellum morphology	9373	PLAA	ORPHA:521426
HP:0001317	Abnormal cerebellum morphology	8882	ZPR1	OMIM:619321
HP:0001317	Abnormal cerebellum morphology	85358	SHANK3	ORPHA:48652
HP:0001317	Abnormal cerebellum morphology	1593	CYP27A1	ORPHA:909
HP:0001317	Abnormal cerebellum morphology	26278	SACS	ORPHA:98
HP:0001317	Abnormal cerebellum morphology	4001	LMNB1	ORPHA:99027
HP:0001317	Abnormal cerebellum morphology	2313	FLI1	ORPHA:370348
HP:0001317	Abnormal cerebellum morphology	54806	AHI1	OMIM:608629
HP:0001317	Abnormal cerebellum morphology	79848	CSPP1	ORPHA:397715
HP:0001317	Abnormal cerebellum morphology	79848	CSPP1	OMIM:615636
HP:0001317	Abnormal cerebellum morphology	9786	KIAA0586	ORPHA:397715
HP:0001317	Abnormal cerebellum morphology	403	ARL3	OMIM:618161
HP:0001317	Abnormal cerebellum morphology	284217	LAMA1	ORPHA:370022
HP:0001317	Abnormal cerebellum morphology	51259	TMEM216	OMIM:608091
HP:0001317	Abnormal cerebellum morphology	56623	INPP5E	OMIM:213300
HP:0001317	Abnormal cerebellum morphology	91147	TMEM67	OMIM:610688
HP:0001317	Abnormal cerebellum morphology	1182	CLCN3	OMIM:619512
HP:0001317	Abnormal cerebellum morphology	4867	NPHP1	OMIM:609583
HP:0001317	Abnormal cerebellum morphology	10015	PDCD6IP	OMIM:620047
HP:0001317	Abnormal cerebellum morphology	23028	KDM1A	ORPHA:477993
HP:0001317	Abnormal cerebellum morphology	2019	EN1	OMIM:619218
HP:0001317	Abnormal cerebellum morphology	8398	PLA2G6	ORPHA:35069
HP:0001317	Abnormal cerebellum morphology	84667	HES7	OMIM:613686
HP:0001317	Abnormal cerebellum morphology	128240	NAXE	OMIM:617186
HP:0001317	Abnormal cerebellum morphology	87178	PNPT1	ORPHA:101111
HP:0001317	Abnormal cerebellum morphology	5428	POLG	ORPHA:70595
HP:0001317	Abnormal cerebellum morphology	56652	TWNK	ORPHA:70595
HP:0001317	Abnormal cerebellum morphology	526	ATP6V1B2	ORPHA:79500
HP:0001317	Abnormal cerebellum morphology	57465	TBC1D24	ORPHA:79500
HP:0001317	Abnormal cerebellum morphology	55770	EXOC2	OMIM:619306
HP:0001317	Abnormal cerebellum morphology	28514	DLL1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2253	FGF8	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6496	SIX3	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	7050	TGIF1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	4838	NODAL	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6469	SHH	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	7546	ZIC2	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6491	STIL	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2619	GAS1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	84976	DISP1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2736	GLI2	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	8928	FOXH1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	5727	PTCH1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	50937	CDON	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	686	BTD	OMIM:253260
HP:0001317	Abnormal cerebellum morphology	819	CAMLG	OMIM:620201
HP:0001317	Abnormal cerebellum morphology	404672	GTF2H5	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	7737	RNF113A	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	136647	MPLKIP	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	6897	TARS1	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	2961	GTF2E2	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	3912	LAMB1	OMIM:615191
HP:0001317	Abnormal cerebellum morphology	59336	PRDM13	OMIM:619909
HP:0001317	Abnormal cerebellum morphology	1356	CP	ORPHA:48818
HP:0001317	Abnormal cerebellum morphology	2512	FTL	ORPHA:157846
HP:0001317	Abnormal cerebellum morphology	100144748	KLLN	OMIM:615107
HP:0011531	Vitritis	3105	HLA-A	ORPHA:179
HP:0011531	Vitritis	5925	RB1	OMIM:180200
HP:0011531	Vitritis	54539	NDUFB11	ORPHA:2556
HP:0011531	Vitritis	1349	COX7B	ORPHA:2556
HP:0011531	Vitritis	3052	HCCS	ORPHA:2556
HP:0011532	Subretinal exudate	4693	NDP	OMIM:305390
HP:0011533	Snowflake vitreoretinal degeneration	3769	KCNJ13	OMIM:193230
HP:0011534	Abnormal spatial orientation of the cardiac segments	27019	DNAI1	OMIM:244400
HP:0011534	Abnormal spatial orientation of the cardiac segments	27019	DNAI1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	79600	TCTN1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	79600	TCTN1	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	79848	CSPP1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	79848	CSPP1	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	51684	SUFU	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	54806	AHI1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	153241	CEP120	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	65250	CPLANE1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	91147	TMEM67	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	91147	TMEM67	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	200894	ARL13B	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	9731	CEP104	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	219844	HYLS1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	23247	KATNIP	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	219854	TMEM218	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	54903	MKS1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	54903	MKS1	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	95681	CEP41	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	9786	KIAA0586	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	56623	INPP5E	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	79867	TCTN2	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	79867	TCTN2	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	80776	B9D2	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	80776	B9D2	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	10464	PIBF1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	80210	ARMC9	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	23116	TOGARAM1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	25776	CBY1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	27077	B9D1	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	27077	B9D1	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	403	ARL3	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	65062	TMEM237	ORPHA:475
HP:0011534	Abnormal spatial orientation of the cardiac segments	65062	TMEM237	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	139212	DNAAF6	OMIM:300991
HP:0011534	Abnormal spatial orientation of the cardiac segments	139212	DNAAF6	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	85016	CFAP300	OMIM:618063
HP:0011534	Abnormal spatial orientation of the cardiac segments	85016	CFAP300	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	5396	PRRX1	ORPHA:990
HP:0011534	Abnormal spatial orientation of the cardiac segments	5396	PRRX1	OMIM:202650
HP:0011534	Abnormal spatial orientation of the cardiac segments	5015	OTX2	ORPHA:990
HP:0011534	Abnormal spatial orientation of the cardiac segments	83538	ODAD4	OMIM:617092
HP:0011534	Abnormal spatial orientation of the cardiac segments	83538	ODAD4	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	1770	DNAH9	OMIM:618300
HP:0011534	Abnormal spatial orientation of the cardiac segments	1770	DNAH9	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	83861	RSPH3	OMIM:616481
HP:0011534	Abnormal spatial orientation of the cardiac segments	83861	RSPH3	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	5311	PKD2	OMIM:613095
HP:0011534	Abnormal spatial orientation of the cardiac segments	23568	ARL2BP	OMIM:615434
HP:0011534	Abnormal spatial orientation of the cardiac segments	10309	CCNO	OMIM:615872
HP:0011534	Abnormal spatial orientation of the cardiac segments	10309	CCNO	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	55329	MNS1	OMIM:618948
HP:0011534	Abnormal spatial orientation of the cardiac segments	25981	DNAH1	OMIM:617577
HP:0011534	Abnormal spatial orientation of the cardiac segments	25981	DNAH1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	54585	LZTFL1	OMIM:615994
HP:0011534	Abnormal spatial orientation of the cardiac segments	64446	DNAI2	OMIM:612444
HP:0011534	Abnormal spatial orientation of the cardiac segments	64446	DNAI2	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	4487	MSX1	ORPHA:199302
HP:0011534	Abnormal spatial orientation of the cardiac segments	5818	NECTIN1	ORPHA:199302
HP:0011534	Abnormal spatial orientation of the cardiac segments	8626	TP63	ORPHA:199302
HP:0011534	Abnormal spatial orientation of the cardiac segments	3664	IRF6	ORPHA:199302
HP:0011534	Abnormal spatial orientation of the cardiac segments	54768	HYDIN	OMIM:608647
HP:0011534	Abnormal spatial orientation of the cardiac segments	54768	HYDIN	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	197131	UBR1	OMIM:243800
HP:0011534	Abnormal spatial orientation of the cardiac segments	7490	WT1	ORPHA:3097
HP:0011534	Abnormal spatial orientation of the cardiac segments	89765	RSPH1	OMIM:615481
HP:0011534	Abnormal spatial orientation of the cardiac segments	89765	RSPH1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	161582	DNAAF4	OMIM:615482
HP:0011534	Abnormal spatial orientation of the cardiac segments	161582	DNAAF4	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	27031	NPHP3	OMIM:208540
HP:0011534	Abnormal spatial orientation of the cardiac segments	27031	NPHP3	OMIM:267010
HP:0011534	Abnormal spatial orientation of the cardiac segments	10991	SLC38A3	OMIM:619881
HP:0011534	Abnormal spatial orientation of the cardiac segments	221421	RSPH9	OMIM:612650
HP:0011534	Abnormal spatial orientation of the cardiac segments	221421	RSPH9	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	54919	DNAAF5	OMIM:614874
HP:0011534	Abnormal spatial orientation of the cardiac segments	54919	DNAAF5	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	146845	CFAP52	OMIM:619607
HP:0011534	Abnormal spatial orientation of the cardiac segments	51364	ZMYND10	OMIM:615444
HP:0011534	Abnormal spatial orientation of the cardiac segments	51364	ZMYND10	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	25790	CFAP45	OMIM:619608
HP:0011534	Abnormal spatial orientation of the cardiac segments	10126	DNAL4	OMIM:616059
HP:0011534	Abnormal spatial orientation of the cardiac segments	388389	CCDC103	OMIM:614679
HP:0011534	Abnormal spatial orientation of the cardiac segments	388389	CCDC103	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	25914	RTTN	OMIM:614833
HP:0011534	Abnormal spatial orientation of the cardiac segments	8701	DNAH11	OMIM:611884
HP:0011534	Abnormal spatial orientation of the cardiac segments	8701	DNAH11	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	1767	DNAH5	OMIM:608644
HP:0011534	Abnormal spatial orientation of the cardiac segments	1767	DNAH5	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	55997	CFC1	OMIM:605376
HP:0011534	Abnormal spatial orientation of the cardiac segments	85452	CFAP74	OMIM:620197
HP:0011534	Abnormal spatial orientation of the cardiac segments	8382	NME5	OMIM:620032
HP:0011534	Abnormal spatial orientation of the cardiac segments	10084	PQBP1	OMIM:309500
HP:0011534	Abnormal spatial orientation of the cardiac segments	123872	DNAAF1	OMIM:613193
HP:0011534	Abnormal spatial orientation of the cardiac segments	123872	DNAAF1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	79989	IFT56	OMIM:619534
HP:0011534	Abnormal spatial orientation of the cardiac segments	2657	GDF1	OMIM:208530
HP:0011534	Abnormal spatial orientation of the cardiac segments	55130	ODAD2	OMIM:615451
HP:0011534	Abnormal spatial orientation of the cardiac segments	55130	ODAD2	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	10560	SLC19A2	OMIM:249270
HP:0011534	Abnormal spatial orientation of the cardiac segments	23090	ZNF423	OMIM:614844
HP:0011534	Abnormal spatial orientation of the cardiac segments	284086	NEK8	OMIM:615415
HP:0011534	Abnormal spatial orientation of the cardiac segments	118856	MMP21	OMIM:616749
HP:0011534	Abnormal spatial orientation of the cardiac segments	115948	ODAD3	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	115948	ODAD3	OMIM:616037
HP:0011534	Abnormal spatial orientation of the cardiac segments	352909	DNAAF3	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	352909	DNAAF3	OMIM:606763
HP:0011534	Abnormal spatial orientation of the cardiac segments	27148	STK36	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	51314	NME8	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	92749	DRC1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	54970	TTC12	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	152110	NEK10	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	8481	OFD1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	2302	FOXJ1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	85478	CCDC65	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	85478	CCDC65	OMIM:615504
HP:0011534	Abnormal spatial orientation of the cardiac segments	55036	CCDC40	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	55036	CCDC40	OMIM:613808
HP:0011534	Abnormal spatial orientation of the cardiac segments	6674	SPAG1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	6674	SPAG1	OMIM:615505
HP:0011534	Abnormal spatial orientation of the cardiac segments	83544	DNAL1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	83544	DNAL1	OMIM:614017
HP:0011534	Abnormal spatial orientation of the cardiac segments	200373	CFAP221	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	374407	DNAJB13	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	55172	DNAAF2	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	55172	DNAAF2	OMIM:612518
HP:0011534	Abnormal spatial orientation of the cardiac segments	2622	GAS8	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	23639	DNAAF11	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	23639	DNAAF11	OMIM:614935
HP:0011534	Abnormal spatial orientation of the cardiac segments	345895	RSPH4A	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	6103	RPGR	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	93233	ODAD1	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	93233	ODAD1	OMIM:615067
HP:0011534	Abnormal spatial orientation of the cardiac segments	345643	MCIDAS	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	56683	CFAP298	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	56683	CFAP298	OMIM:615500
HP:0011534	Abnormal spatial orientation of the cardiac segments	79925	SPEF2	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	115399	LRRC56	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	339829	CCDC39	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	339829	CCDC39	OMIM:613807
HP:0011534	Abnormal spatial orientation of the cardiac segments	246176	GAS2L2	ORPHA:244
HP:0011534	Abnormal spatial orientation of the cardiac segments	5566	PRKACA	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	5567	PRKACB	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	2735	GLI1	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	2121	EVC	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	51626	DYNC2LI1	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	132884	EVC2	ORPHA:289
HP:0011534	Abnormal spatial orientation of the cardiac segments	84314	TMEM107	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	26123	TCTN3	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	57096	RPGRIP1	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	80184	CEP290	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	51259	TMEM216	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	57545	CC2D2A	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	79583	TMEM231	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	79770	TXNDC15	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	23322	RPGRIP1L	ORPHA:564
HP:0011534	Abnormal spatial orientation of the cardiac segments	203286	ANKS6	OMIM:615382
HP:0011534	Abnormal spatial orientation of the cardiac segments	123016	TTC8	OMIM:615985
HP:0011534	Abnormal spatial orientation of the cardiac segments	84667	HES7	OMIM:613686
HP:0011534	Abnormal spatial orientation of the cardiac segments	1954	MEGF8	OMIM:614976
HP:0011534	Abnormal spatial orientation of the cardiac segments	220136	CFAP53	OMIM:614779
HP:0011534	Abnormal spatial orientation of the cardiac segments	100128908	CIROP	OMIM:619702
HP:0011534	Abnormal spatial orientation of the cardiac segments	63895	PIEZO2	ORPHA:2461
HP:0011534	Abnormal spatial orientation of the cardiac segments	27130	INVS	OMIM:602088
HP:0011534	Abnormal spatial orientation of the cardiac segments	7547	ZIC3	OMIM:306955
HP:0011534	Abnormal spatial orientation of the cardiac segments	4838	NODAL	OMIM:270100
HP:0011534	Abnormal spatial orientation of the cardiac segments	168507	PKD1L1	OMIM:617205
HP:0011535	Abnormal atrial arrangement	7547	ZIC3	OMIM:306955
HP:0011535	Abnormal atrial arrangement	4838	NODAL	OMIM:270100
HP:0011535	Abnormal atrial arrangement	2657	GDF1	OMIM:208530
HP:0011535	Abnormal atrial arrangement	55997	CFC1	OMIM:605376
HP:0011535	Abnormal atrial arrangement	25981	DNAH1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	115948	ODAD3	ORPHA:244
HP:0011535	Abnormal atrial arrangement	54768	HYDIN	ORPHA:244
HP:0011535	Abnormal atrial arrangement	352909	DNAAF3	ORPHA:244
HP:0011535	Abnormal atrial arrangement	27148	STK36	ORPHA:244
HP:0011535	Abnormal atrial arrangement	51314	NME8	ORPHA:244
HP:0011535	Abnormal atrial arrangement	92749	DRC1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	54970	TTC12	ORPHA:244
HP:0011535	Abnormal atrial arrangement	152110	NEK10	ORPHA:244
HP:0011535	Abnormal atrial arrangement	8481	OFD1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	2302	FOXJ1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	221421	RSPH9	ORPHA:244
HP:0011535	Abnormal atrial arrangement	85478	CCDC65	ORPHA:244
HP:0011535	Abnormal atrial arrangement	55036	CCDC40	ORPHA:244
HP:0011535	Abnormal atrial arrangement	51364	ZMYND10	ORPHA:244
HP:0011535	Abnormal atrial arrangement	64446	DNAI2	ORPHA:244
HP:0011535	Abnormal atrial arrangement	6674	SPAG1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	83544	DNAL1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	89765	RSPH1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	83538	ODAD4	ORPHA:244
HP:0011535	Abnormal atrial arrangement	200373	CFAP221	ORPHA:244
HP:0011535	Abnormal atrial arrangement	374407	DNAJB13	ORPHA:244
HP:0011535	Abnormal atrial arrangement	55172	DNAAF2	ORPHA:244
HP:0011535	Abnormal atrial arrangement	161582	DNAAF4	ORPHA:244
HP:0011535	Abnormal atrial arrangement	2622	GAS8	ORPHA:244
HP:0011535	Abnormal atrial arrangement	23639	DNAAF11	ORPHA:244
HP:0011535	Abnormal atrial arrangement	27019	DNAI1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	345895	RSPH4A	ORPHA:244
HP:0011535	Abnormal atrial arrangement	54919	DNAAF5	ORPHA:244
HP:0011535	Abnormal atrial arrangement	6103	RPGR	ORPHA:244
HP:0011535	Abnormal atrial arrangement	388389	CCDC103	ORPHA:244
HP:0011535	Abnormal atrial arrangement	93233	ODAD1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	55130	ODAD2	ORPHA:244
HP:0011535	Abnormal atrial arrangement	1767	DNAH5	ORPHA:244
HP:0011535	Abnormal atrial arrangement	83861	RSPH3	ORPHA:244
HP:0011535	Abnormal atrial arrangement	345643	MCIDAS	ORPHA:244
HP:0011535	Abnormal atrial arrangement	56683	CFAP298	ORPHA:244
HP:0011535	Abnormal atrial arrangement	79925	SPEF2	ORPHA:244
HP:0011535	Abnormal atrial arrangement	10309	CCNO	ORPHA:244
HP:0011535	Abnormal atrial arrangement	115399	LRRC56	ORPHA:244
HP:0011535	Abnormal atrial arrangement	139212	DNAAF6	ORPHA:244
HP:0011535	Abnormal atrial arrangement	123872	DNAAF1	ORPHA:244
HP:0011535	Abnormal atrial arrangement	85016	CFAP300	ORPHA:244
HP:0011535	Abnormal atrial arrangement	339829	CCDC39	ORPHA:244
HP:0011535	Abnormal atrial arrangement	8701	DNAH11	ORPHA:244
HP:0011535	Abnormal atrial arrangement	1770	DNAH9	ORPHA:244
HP:0011535	Abnormal atrial arrangement	246176	GAS2L2	ORPHA:244
HP:0011535	Abnormal atrial arrangement	168507	PKD1L1	OMIM:617205
HP:0011536	Right atrial isomerism	7547	ZIC3	OMIM:306955
HP:0011536	Right atrial isomerism	4838	NODAL	OMIM:270100
HP:0011536	Right atrial isomerism	2657	GDF1	OMIM:208530
HP:0011537	Left atrial isomerism	55997	CFC1	OMIM:605376
HP:0011538	Atrial situs inversus	168507	PKD1L1	OMIM:617205
HP:0011538	Atrial situs inversus	93233	ODAD1	OMIM:615067
HP:0011539	Atrial situs ambiguous	25981	DNAH1	ORPHA:244
HP:0011539	Atrial situs ambiguous	115948	ODAD3	ORPHA:244
HP:0011539	Atrial situs ambiguous	54768	HYDIN	ORPHA:244
HP:0011539	Atrial situs ambiguous	352909	DNAAF3	ORPHA:244
HP:0011539	Atrial situs ambiguous	27148	STK36	ORPHA:244
HP:0011539	Atrial situs ambiguous	51314	NME8	ORPHA:244
HP:0011539	Atrial situs ambiguous	92749	DRC1	ORPHA:244
HP:0011539	Atrial situs ambiguous	54970	TTC12	ORPHA:244
HP:0011539	Atrial situs ambiguous	152110	NEK10	ORPHA:244
HP:0011539	Atrial situs ambiguous	8481	OFD1	ORPHA:244
HP:0011539	Atrial situs ambiguous	2302	FOXJ1	ORPHA:244
HP:0011539	Atrial situs ambiguous	221421	RSPH9	ORPHA:244
HP:0011539	Atrial situs ambiguous	85478	CCDC65	ORPHA:244
HP:0011539	Atrial situs ambiguous	55036	CCDC40	ORPHA:244
HP:0011539	Atrial situs ambiguous	51364	ZMYND10	ORPHA:244
HP:0011539	Atrial situs ambiguous	64446	DNAI2	ORPHA:244
HP:0011539	Atrial situs ambiguous	6674	SPAG1	ORPHA:244
HP:0011539	Atrial situs ambiguous	83544	DNAL1	ORPHA:244
HP:0011539	Atrial situs ambiguous	89765	RSPH1	ORPHA:244
HP:0011539	Atrial situs ambiguous	83538	ODAD4	ORPHA:244
HP:0011539	Atrial situs ambiguous	200373	CFAP221	ORPHA:244
HP:0011539	Atrial situs ambiguous	374407	DNAJB13	ORPHA:244
HP:0011539	Atrial situs ambiguous	55172	DNAAF2	ORPHA:244
HP:0011539	Atrial situs ambiguous	161582	DNAAF4	ORPHA:244
HP:0011539	Atrial situs ambiguous	2622	GAS8	ORPHA:244
HP:0011539	Atrial situs ambiguous	23639	DNAAF11	ORPHA:244
HP:0011539	Atrial situs ambiguous	27019	DNAI1	ORPHA:244
HP:0011539	Atrial situs ambiguous	345895	RSPH4A	ORPHA:244
HP:0011539	Atrial situs ambiguous	54919	DNAAF5	ORPHA:244
HP:0011539	Atrial situs ambiguous	6103	RPGR	ORPHA:244
HP:0011539	Atrial situs ambiguous	388389	CCDC103	ORPHA:244
HP:0011539	Atrial situs ambiguous	93233	ODAD1	ORPHA:244
HP:0011539	Atrial situs ambiguous	55130	ODAD2	ORPHA:244
HP:0011539	Atrial situs ambiguous	1767	DNAH5	ORPHA:244
HP:0011539	Atrial situs ambiguous	83861	RSPH3	ORPHA:244
HP:0011539	Atrial situs ambiguous	345643	MCIDAS	ORPHA:244
HP:0011539	Atrial situs ambiguous	56683	CFAP298	ORPHA:244
HP:0011539	Atrial situs ambiguous	79925	SPEF2	ORPHA:244
HP:0011539	Atrial situs ambiguous	10309	CCNO	ORPHA:244
HP:0011539	Atrial situs ambiguous	115399	LRRC56	ORPHA:244
HP:0011539	Atrial situs ambiguous	139212	DNAAF6	ORPHA:244
HP:0011539	Atrial situs ambiguous	123872	DNAAF1	ORPHA:244
HP:0011539	Atrial situs ambiguous	85016	CFAP300	ORPHA:244
HP:0011539	Atrial situs ambiguous	339829	CCDC39	ORPHA:244
HP:0011539	Atrial situs ambiguous	8701	DNAH11	ORPHA:244
HP:0011539	Atrial situs ambiguous	1770	DNAH9	ORPHA:244
HP:0011539	Atrial situs ambiguous	246176	GAS2L2	ORPHA:244
HP:0011539	Atrial situs ambiguous	168507	PKD1L1	OMIM:617205
HP:0011530	Retinal hole	8322	FZD4	OMIM:133780
HP:0011530	Retinal hole	4041	LRP5	OMIM:133780
HP:0011530	Retinal hole	79797	ZNF408	OMIM:616468
HP:0011530	Retinal hole	1499	CTNNB1	OMIM:617572
HP:0011530	Retinal hole	1280	COL2A1	OMIM:108300
HP:0011530	Retinal hole	4693	NDP	OMIM:305390
HP:0031969	Reduced blood urea nitrogen	1497	CTNS	OMIM:219800
HP:0031969	Reduced blood urea nitrogen	554	AVPR2	OMIM:300539
HP:0031964	Elevated circulating alanine aminotransferase concentration	91949	COG7	OMIM:608779
HP:0031964	Elevated circulating alanine aminotransferase concentration	3376	IARS1	OMIM:617093
HP:0031964	Elevated circulating alanine aminotransferase concentration	286053	NSMCE2	OMIM:617253
HP:0031964	Elevated circulating alanine aminotransferase concentration	4952	OCRL	OMIM:300555
HP:0031964	Elevated circulating alanine aminotransferase concentration	8482	SEMA7A	OMIM:619874
HP:0031964	Elevated circulating alanine aminotransferase concentration	23019	CNOT1	OMIM:618500
HP:0031964	Elevated circulating alanine aminotransferase concentration	57128	LYRM4	OMIM:615595
HP:0031964	Elevated circulating alanine aminotransferase concentration	65080	MRPL44	OMIM:615395
HP:0031964	Elevated circulating alanine aminotransferase concentration	570	BAAT	OMIM:619232
HP:0031964	Elevated circulating alanine aminotransferase concentration	11222	MRPL3	OMIM:614582
HP:0031964	Elevated circulating alanine aminotransferase concentration	7381	UQCRB	OMIM:615158
HP:0031964	Elevated circulating alanine aminotransferase concentration	132	ADK	OMIM:614300
HP:0031964	Elevated circulating alanine aminotransferase concentration	5009	OTC	OMIM:311250
HP:0031964	Elevated circulating alanine aminotransferase concentration	5580	PRKCD	OMIM:615559
HP:0031964	Elevated circulating alanine aminotransferase concentration	5828	PEX2	OMIM:614866
HP:0031964	Elevated circulating alanine aminotransferase concentration	2592	GALT	OMIM:230400
HP:0031964	Elevated circulating alanine aminotransferase concentration	338	APOB	OMIM:615558
HP:0031964	Elevated circulating alanine aminotransferase concentration	9420	CYP7B1	OMIM:613812
HP:0031964	Elevated circulating alanine aminotransferase concentration	9420	CYP7B1	ORPHA:79302
HP:0031964	Elevated circulating alanine aminotransferase concentration	6609	SMPD1	OMIM:257200
HP:0031964	Elevated circulating alanine aminotransferase concentration	5314	PKHD1	ORPHA:53035
HP:0031964	Elevated circulating alanine aminotransferase concentration	123264	SLC51B	OMIM:619481
HP:0031964	Elevated circulating alanine aminotransferase concentration	10165	SLC25A13	OMIM:605814
HP:0031964	Elevated circulating alanine aminotransferase concentration	10165	SLC25A13	OMIM:603471
HP:0031964	Elevated circulating alanine aminotransferase concentration	197131	UBR1	OMIM:243800
HP:0031964	Elevated circulating alanine aminotransferase concentration	55610	VPS50	OMIM:619685
HP:0031964	Elevated circulating alanine aminotransferase concentration	7504	XK	OMIM:300842
HP:0031964	Elevated circulating alanine aminotransferase concentration	6514	SLC2A2	OMIM:227810
HP:0031964	Elevated circulating alanine aminotransferase concentration	6514	SLC2A2	ORPHA:2088
HP:0031964	Elevated circulating alanine aminotransferase concentration	6341	SCO1	OMIM:619048
HP:0031964	Elevated circulating alanine aminotransferase concentration	2548	GAA	ORPHA:308552
HP:0031964	Elevated circulating alanine aminotransferase concentration	4141	MARS1	OMIM:615486
HP:0031964	Elevated circulating alanine aminotransferase concentration	3162	HMOX1	OMIM:614034
HP:0031964	Elevated circulating alanine aminotransferase concentration	54931	TRMT10C	OMIM:616974
HP:0031964	Elevated circulating alanine aminotransferase concentration	131118	DNAJC19	OMIM:610198
HP:0031964	Elevated circulating alanine aminotransferase concentration	226	ALDOA	OMIM:611881
HP:0031964	Elevated circulating alanine aminotransferase concentration	2542	SLC37A4	OMIM:619525
HP:0031964	Elevated circulating alanine aminotransferase concentration	8309	ACOX2	OMIM:617308
HP:0031964	Elevated circulating alanine aminotransferase concentration	7486	WRN	OMIM:277700
HP:0031964	Elevated circulating alanine aminotransferase concentration	540	ATP7B	OMIM:277900
HP:0031964	Elevated circulating alanine aminotransferase concentration	56652	TWNK	OMIM:271245
HP:0031964	Elevated circulating alanine aminotransferase concentration	1376	CPT2	OMIM:608836
HP:0031964	Elevated circulating alanine aminotransferase concentration	55687	TRMU	OMIM:613070
HP:0031964	Elevated circulating alanine aminotransferase concentration	79989	IFT56	OMIM:619534
HP:0031964	Elevated circulating alanine aminotransferase concentration	51116	MRPS2	OMIM:617950
HP:0031964	Elevated circulating alanine aminotransferase concentration	537	ATP6AP1	OMIM:300972
HP:0031964	Elevated circulating alanine aminotransferase concentration	5105	PCK1	OMIM:261680
HP:0031964	Elevated circulating alanine aminotransferase concentration	50619	DEF6	OMIM:619573
HP:0031964	Elevated circulating alanine aminotransferase concentration	348	APOE	OMIM:269600
HP:0031964	Elevated circulating alanine aminotransferase concentration	3988	LIPA	OMIM:278000
HP:0031964	Elevated circulating alanine aminotransferase concentration	11232	POLG2	OMIM:618528
HP:0031964	Elevated circulating alanine aminotransferase concentration	9487	PIGL	OMIM:280000
HP:0031964	Elevated circulating alanine aminotransferase concentration	191	AHCY	OMIM:613752
HP:0031964	Elevated circulating alanine aminotransferase concentration	1374	CPT1A	OMIM:255120
HP:0031964	Elevated circulating alanine aminotransferase concentration	26007	TKFC	OMIM:618805
HP:0031964	Elevated circulating alanine aminotransferase concentration	4358	MPV17	OMIM:256810
HP:0031964	Elevated circulating alanine aminotransferase concentration	5236	PGM1	OMIM:614921
HP:0031964	Elevated circulating alanine aminotransferase concentration	54532	USP53	OMIM:619658
HP:0031964	Elevated circulating alanine aminotransferase concentration	5195	PEX14	OMIM:614887
HP:0031964	Elevated circulating alanine aminotransferase concentration	55858	TMEM165	OMIM:614727
HP:0031964	Elevated circulating alanine aminotransferase concentration	8772	FADD	OMIM:613759
HP:0031964	Elevated circulating alanine aminotransferase concentration	124454	EARS2	OMIM:614924
HP:0031964	Elevated circulating alanine aminotransferase concentration	3158	HMGCS2	OMIM:605911
HP:0031964	Elevated circulating alanine aminotransferase concentration	8802	SUCLG1	OMIM:245400
HP:0031964	Elevated circulating alanine aminotransferase concentration	587	BCAT2	OMIM:618850
HP:0031964	Elevated circulating alanine aminotransferase concentration	5424	POLD1	OMIM:615381
HP:0031964	Elevated circulating alanine aminotransferase concentration	9054	NFS1	OMIM:619386
HP:0031964	Elevated circulating alanine aminotransferase concentration	113220	KIF12	OMIM:619662
HP:0031964	Elevated circulating alanine aminotransferase concentration	1794	DOCK2	OMIM:616433
HP:0031964	Elevated circulating alanine aminotransferase concentration	23230	VPS13A	ORPHA:2388
HP:0031964	Elevated circulating alanine aminotransferase concentration	9971	NR1H4	OMIM:617049
HP:0031964	Elevated circulating alanine aminotransferase concentration	6773	STAT2	OMIM:616636
HP:0031964	Elevated circulating alanine aminotransferase concentration	4645	MYO5B	OMIM:619868
HP:0031964	Elevated circulating alanine aminotransferase concentration	26276	VPS33B	OMIM:620010
HP:0031964	Elevated circulating alanine aminotransferase concentration	6584	SLC22A5	OMIM:212140
HP:0031965	Increased RBC distribution width	10661	KLF1	OMIM:613673
HP:0031965	Increased RBC distribution width	2694	CBLIF	OMIM:261000
HP:0031965	Increased RBC distribution width	8328	GFI1B	OMIM:187900
HP:0031965	Increased RBC distribution width	2623	GATA1	OMIM:314050
HP:0031970	Abnormal blood urea nitrogen concentration	8518	ELP1	OMIM:223900
HP:0031970	Abnormal blood urea nitrogen concentration	1621	DBH	ORPHA:230
HP:0031970	Abnormal blood urea nitrogen concentration	1621	DBH	OMIM:223360
HP:0031970	Abnormal blood urea nitrogen concentration	51081	MRPS7	OMIM:617872
HP:0031970	Abnormal blood urea nitrogen concentration	11093	ADAMTS13	OMIM:274150
HP:0031970	Abnormal blood urea nitrogen concentration	4179	CD46	OMIM:612922
HP:0031970	Abnormal blood urea nitrogen concentration	54938	SARS2	OMIM:613845
HP:0031970	Abnormal blood urea nitrogen concentration	629	CFB	OMIM:612924
HP:0031970	Abnormal blood urea nitrogen concentration	56606	SLC2A9	ORPHA:94088
HP:0031970	Abnormal blood urea nitrogen concentration	116085	SLC22A12	ORPHA:94088
HP:0031970	Abnormal blood urea nitrogen concentration	3426	CFI	OMIM:612923
HP:0031970	Abnormal blood urea nitrogen concentration	7056	THBD	OMIM:612926
HP:0031970	Abnormal blood urea nitrogen concentration	3075	CFH	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	3078	CFHR1	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	10878	CFHR3	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	718	C3	OMIM:612925
HP:0031970	Abnormal blood urea nitrogen concentration	22909	FAN1	OMIM:614817
HP:0031970	Abnormal blood urea nitrogen concentration	1161	ERCC8	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	2072	ERCC4	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	2074	ERCC6	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	506	ATP5F1B	OMIM:620085
HP:0031970	Abnormal blood urea nitrogen concentration	5277	PIGA	ORPHA:447
HP:0031970	Abnormal blood urea nitrogen concentration	1497	CTNS	OMIM:219800
HP:0031970	Abnormal blood urea nitrogen concentration	554	AVPR2	OMIM:300539
HP:0031971	Subaortic ventricular septal bulge	70	ACTC1	OMIM:612098
HP:0031972	Presyncope	79188	TMEM43	OMIM:604400
HP:0031972	Presyncope	1000	CDH2	OMIM:618920
HP:0031972	Presyncope	5336	PLCG2	OMIM:614468
HP:0031972	Presyncope	3752	KCND3	OMIM:616399
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	ORPHA:401973
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	OMIM:300960
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	OMIM:302960
HP:0001320	Cerebellar vermis hypoplasia	56896	DPYSL5	OMIM:619435
HP:0001320	Cerebellar vermis hypoplasia	3265	HRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	3845	KRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	4893	NRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	4893	NRAS	OMIM:249400
HP:0001320	Cerebellar vermis hypoplasia	23556	PIGN	ORPHA:2059
HP:0001320	Cerebellar vermis hypoplasia	7355	SLC35A2	ORPHA:356961
HP:0001320	Cerebellar vermis hypoplasia	7545	ZIC1	OMIM:616602
HP:0001320	Cerebellar vermis hypoplasia	7545	ZIC1	OMIM:618736
HP:0001320	Cerebellar vermis hypoplasia	84942	WDR73	OMIM:251300
HP:0001320	Cerebellar vermis hypoplasia	2737	GLI3	ORPHA:36
HP:0001320	Cerebellar vermis hypoplasia	57465	TBC1D24	OMIM:220500
HP:0001320	Cerebellar vermis hypoplasia	57465	TBC1D24	ORPHA:79500
HP:0001320	Cerebellar vermis hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	57560	IFT80	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	57539	WDR35	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	1436	CSF1R	OMIM:618476
HP:0001320	Cerebellar vermis hypoplasia	84162	BLTP1	OMIM:617822
HP:0001320	Cerebellar vermis hypoplasia	4081	MAB21L1	OMIM:618479
HP:0001320	Cerebellar vermis hypoplasia	55636	CHD7	ORPHA:138
HP:0001320	Cerebellar vermis hypoplasia	9723	SEMA3E	ORPHA:138
HP:0001320	Cerebellar vermis hypoplasia	2218	FKTN	OMIM:236670
HP:0001320	Cerebellar vermis hypoplasia	2218	FKTN	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	84892	POMGNT2	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	148789	B3GALNT2	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	1282	COL4A1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	729920	CRPPA	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	729920	CRPPA	OMIM:614643
HP:0001320	Cerebellar vermis hypoplasia	10329	RXYLT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	11041	B4GAT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	11041	B4GAT1	OMIM:615287
HP:0001320	Cerebellar vermis hypoplasia	84197	POMK	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	55624	POMGNT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	79068	FTO	OMIM:612938
HP:0001320	Cerebellar vermis hypoplasia	57492	ARID1B	OMIM:135900
HP:0001320	Cerebellar vermis hypoplasia	57492	ARID1B	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	3899	AFF3	OMIM:619297
HP:0001320	Cerebellar vermis hypoplasia	6597	SMARCA4	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6597	SMARCA4	OMIM:614609
HP:0001320	Cerebellar vermis hypoplasia	6598	SMARCB1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6598	SMARCB1	OMIM:614608
HP:0001320	Cerebellar vermis hypoplasia	6659	SOX4	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	8289	ARID1A	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	8289	ARID1A	OMIM:614607
HP:0001320	Cerebellar vermis hypoplasia	5977	DPF2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6601	SMARCC2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6602	SMARCD1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	196528	ARID2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6605	SMARCE1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6605	SMARCE1	OMIM:616938
HP:0001320	Cerebellar vermis hypoplasia	6664	SOX11	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	27315	PGAP2	OMIM:614207
HP:0001320	Cerebellar vermis hypoplasia	157570	ESCO2	ORPHA:2319
HP:0001320	Cerebellar vermis hypoplasia	5340	PLG	ORPHA:722
HP:0001320	Cerebellar vermis hypoplasia	5340	PLG	OMIM:217090
HP:0001320	Cerebellar vermis hypoplasia	1717	DHCR7	OMIM:270400
HP:0001320	Cerebellar vermis hypoplasia	84314	TMEM107	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	57096	RPGRIP1	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	79770	TXNDC15	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	OMIM:267010
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	OMIM:208540
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	ORPHA:3032
HP:0001320	Cerebellar vermis hypoplasia	171023	ASXL1	ORPHA:97297
HP:0001320	Cerebellar vermis hypoplasia	171023	ASXL1	OMIM:605039
HP:0001320	Cerebellar vermis hypoplasia	9184	BUB3	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	699	BUB1	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	9702	CEP57	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	9319	TRIP13	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	701	BUB1B	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	701	BUB1B	OMIM:257300
HP:0001320	Cerebellar vermis hypoplasia	84188	FAR1	ORPHA:438178
HP:0001320	Cerebellar vermis hypoplasia	84188	FAR1	OMIM:616154
HP:0001320	Cerebellar vermis hypoplasia	2260	FGFR1	OMIM:613001
HP:0001320	Cerebellar vermis hypoplasia	124997	WDR81	OMIM:617967
HP:0001320	Cerebellar vermis hypoplasia	2683	B4GALT1	OMIM:607091
HP:0001320	Cerebellar vermis hypoplasia	2683	B4GALT1	ORPHA:79332
HP:0001320	Cerebellar vermis hypoplasia	26227	PHGDH	OMIM:256520
HP:0001320	Cerebellar vermis hypoplasia	4927	NUP88	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	4654	MYOD1	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	4593	MUSK	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	5913	RAPSN	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	6572	SLC18A3	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	285489	DOK7	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	7737	RNF113A	OMIM:300953
HP:0001320	Cerebellar vermis hypoplasia	998	CDC42	ORPHA:487796
HP:0001320	Cerebellar vermis hypoplasia	11128	POLR3A	OMIM:264090
HP:0001320	Cerebellar vermis hypoplasia	4534	MTM1	OMIM:310400
HP:0001320	Cerebellar vermis hypoplasia	526	ATP6V1B2	ORPHA:79500
HP:0001320	Cerebellar vermis hypoplasia	54880	BCOR	OMIM:300166
HP:0001320	Cerebellar vermis hypoplasia	55640	FLVCR2	OMIM:225790
HP:0001320	Cerebellar vermis hypoplasia	28952	CCDC22	OMIM:300963
HP:0001320	Cerebellar vermis hypoplasia	28952	CCDC22	ORPHA:7
HP:0001320	Cerebellar vermis hypoplasia	5500	PPP1CB	OMIM:617506
HP:0001320	Cerebellar vermis hypoplasia	54676	GTPBP2	OMIM:617988
HP:0001320	Cerebellar vermis hypoplasia	9897	WASHC5	OMIM:220210
HP:0001320	Cerebellar vermis hypoplasia	9897	WASHC5	ORPHA:7
HP:0001320	Cerebellar vermis hypoplasia	23007	PLCH1	OMIM:619895
HP:0001320	Cerebellar vermis hypoplasia	2121	EVC	OMIM:225500
HP:0001320	Cerebellar vermis hypoplasia	132884	EVC2	OMIM:225500
HP:0001320	Cerebellar vermis hypoplasia	523	ATP6V1A	ORPHA:357074
HP:0001320	Cerebellar vermis hypoplasia	529	ATP6V1E1	ORPHA:357074
HP:0001320	Cerebellar vermis hypoplasia	3798	KIF5A	OMIM:617235
HP:0001320	Cerebellar vermis hypoplasia	1028	CDKN1C	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	10984	KCNQ1OT1	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	3481	IGF2	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	3784	KCNQ1	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	10195	ALG3	ORPHA:79321
HP:0001320	Cerebellar vermis hypoplasia	27183	VPS4A	OMIM:619273
HP:0001320	Cerebellar vermis hypoplasia	10128	LRPPRC	OMIM:220111
HP:0001320	Cerebellar vermis hypoplasia	3912	LAMB1	OMIM:615191
HP:0001320	Cerebellar vermis hypoplasia	54892	NCAPG2	OMIM:618460
HP:0001320	Cerebellar vermis hypoplasia	60529	ALX4	OMIM:613451
HP:0001320	Cerebellar vermis hypoplasia	4750	NEK1	OMIM:263520
HP:0001320	Cerebellar vermis hypoplasia	23241	PACS2	OMIM:618067
HP:0001320	Cerebellar vermis hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0001320	Cerebellar vermis hypoplasia	26160	IFT172	OMIM:615630
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	OMIM:614424
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	55733	HHAT	OMIM:600092
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	OMIM:213300
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	8496	PPFIBP1	OMIM:620024
HP:0001320	Cerebellar vermis hypoplasia	1605	DAG1	ORPHA:370997
HP:0001320	Cerebellar vermis hypoplasia	1605	DAG1	OMIM:616538
HP:0001320	Cerebellar vermis hypoplasia	4867	NPHP1	OMIM:609583
HP:0001320	Cerebellar vermis hypoplasia	4867	NPHP1	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	64324	NSD1	ORPHA:821
HP:0001320	Cerebellar vermis hypoplasia	29072	SETD2	ORPHA:821
HP:0001320	Cerebellar vermis hypoplasia	10297	APC2	ORPHA:821
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	OMIM:216360
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	OMIM:610688
HP:0001320	Cerebellar vermis hypoplasia	79848	CSPP1	ORPHA:397715
HP:0001320	Cerebellar vermis hypoplasia	79848	CSPP1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	OMIM:616546
HP:0001320	Cerebellar vermis hypoplasia	128869	PIGU	OMIM:618590
HP:0001320	Cerebellar vermis hypoplasia	4983	OPHN1	OMIM:300486
HP:0001320	Cerebellar vermis hypoplasia	4281	MID1	OMIM:300000
HP:0001320	Cerebellar vermis hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0001320	Cerebellar vermis hypoplasia	3020	H3-3A	OMIM:619720
HP:0001320	Cerebellar vermis hypoplasia	219854	TMEM218	OMIM:619562
HP:0001320	Cerebellar vermis hypoplasia	219854	TMEM218	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	473	RERE	OMIM:616975
HP:0001320	Cerebellar vermis hypoplasia	473	RERE	ORPHA:494344
HP:0001320	Cerebellar vermis hypoplasia	23322	RPGRIP1L	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	23322	RPGRIP1L	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	7280	TUBB2A	OMIM:615763
HP:0001320	Cerebellar vermis hypoplasia	79644	SRD5A3	OMIM:612379
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	OMIM:608629
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	153241	CEP120	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	153241	CEP120	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	54903	MKS1	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	54903	MKS1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	95681	CEP41	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	95681	CEP41	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	29968	PSAT1	OMIM:610992
HP:0001320	Cerebellar vermis hypoplasia	29968	PSAT1	ORPHA:284417
HP:0001320	Cerebellar vermis hypoplasia	10501	SEMA6B	OMIM:618876
HP:0001320	Cerebellar vermis hypoplasia	80055	PGAP1	OMIM:615802
HP:0001320	Cerebellar vermis hypoplasia	57082	KNL1	OMIM:604321
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	OMIM:611603
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0001320	Cerebellar vermis hypoplasia	9382	COG1	OMIM:611209
HP:0001320	Cerebellar vermis hypoplasia	9382	COG1	ORPHA:263508
HP:0001320	Cerebellar vermis hypoplasia	29925	GMPPB	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	79147	FKRP	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	29954	POMT2	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	29954	POMT2	OMIM:613156
HP:0001320	Cerebellar vermis hypoplasia	9215	LARGE1	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	10585	POMT1	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	10585	POMT1	OMIM:613155
HP:0001320	Cerebellar vermis hypoplasia	55777	MBD5	OMIM:156200
HP:0001320	Cerebellar vermis hypoplasia	347733	TUBB2B	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	347733	TUBB2B	OMIM:610031
HP:0001320	Cerebellar vermis hypoplasia	10381	TUBB3	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	10381	TUBB3	ORPHA:300570
HP:0001320	Cerebellar vermis hypoplasia	22930	RAB3GAP1	OMIM:600118
HP:0001320	Cerebellar vermis hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	203068	TUBB	OMIM:615771
HP:0001320	Cerebellar vermis hypoplasia	23545	ATP6V0A2	ORPHA:2834
HP:0001320	Cerebellar vermis hypoplasia	1778	DYNC1H1	OMIM:614563
HP:0001320	Cerebellar vermis hypoplasia	23090	ZNF423	OMIM:614844
HP:0001320	Cerebellar vermis hypoplasia	23090	ZNF423	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	1801	DPH1	OMIM:616901
HP:0001320	Cerebellar vermis hypoplasia	1801	DPH1	ORPHA:459061
HP:0001320	Cerebellar vermis hypoplasia	80746	TSEN2	OMIM:612389
HP:0001320	Cerebellar vermis hypoplasia	80746	TSEN2	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	22897	CEP164	OMIM:614845
HP:0001320	Cerebellar vermis hypoplasia	54974	THG1L	OMIM:618800
HP:0001320	Cerebellar vermis hypoplasia	93627	TBCK	OMIM:616900
HP:0001320	Cerebellar vermis hypoplasia	1063	CENPF	OMIM:243605
HP:0001320	Cerebellar vermis hypoplasia	79583	TMEM231	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	79583	TMEM231	ORPHA:2752
HP:0001320	Cerebellar vermis hypoplasia	51524	TMEM138	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	80184	CEP290	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	51259	TMEM216	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	51259	TMEM216	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	OMIM:619111
HP:0001320	Cerebellar vermis hypoplasia	23116	TOGARAM1	OMIM:619185
HP:0001320	Cerebellar vermis hypoplasia	23116	TOGARAM1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	7703	PCGF2	OMIM:618371
HP:0001320	Cerebellar vermis hypoplasia	80856	LNPK	OMIM:618090
HP:0001320	Cerebellar vermis hypoplasia	23258	DENND5A	OMIM:617281
HP:0001320	Cerebellar vermis hypoplasia	26278	SACS	ORPHA:98
HP:0001320	Cerebellar vermis hypoplasia	9839	ZEB2	ORPHA:261552
HP:0001320	Cerebellar vermis hypoplasia	9839	ZEB2	ORPHA:261537
HP:0001320	Cerebellar vermis hypoplasia	79600	TCTN1	OMIM:614173
HP:0001320	Cerebellar vermis hypoplasia	79600	TCTN1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	79042	TSEN34	OMIM:612390
HP:0001320	Cerebellar vermis hypoplasia	79042	TSEN34	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	127833	SYT2	OMIM:619461
HP:0001320	Cerebellar vermis hypoplasia	1822	ATN1	OMIM:618494
HP:0001320	Cerebellar vermis hypoplasia	8550	MAPKAPK5	OMIM:619869
HP:0001320	Cerebellar vermis hypoplasia	545	ATR	OMIM:210600
HP:0001320	Cerebellar vermis hypoplasia	10352	WARS2	ORPHA:572798
HP:0001320	Cerebellar vermis hypoplasia	26005	C2CD3	OMIM:615948
HP:0001320	Cerebellar vermis hypoplasia	492	ATP2B3	ORPHA:314978
HP:0001320	Cerebellar vermis hypoplasia	60386	SLC25A19	ORPHA:99742
HP:0001320	Cerebellar vermis hypoplasia	60386	SLC25A19	OMIM:607196
HP:0001320	Cerebellar vermis hypoplasia	5373	PMM2	OMIM:212065
HP:0001320	Cerebellar vermis hypoplasia	5373	PMM2	ORPHA:79318
HP:0001320	Cerebellar vermis hypoplasia	2296	FOXC1	OMIM:602482
HP:0001320	Cerebellar vermis hypoplasia	2296	FOXC1	OMIM:601631
HP:0001320	Cerebellar vermis hypoplasia	8241	RBM10	OMIM:311900
HP:0001320	Cerebellar vermis hypoplasia	59336	PRDM13	OMIM:619909
HP:0001320	Cerebellar vermis hypoplasia	51684	SUFU	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	OMIM:277170
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	200894	ARL13B	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9731	CEP104	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	219844	HYLS1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	23247	KATNIP	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	23247	KATNIP	OMIM:616784
HP:0001320	Cerebellar vermis hypoplasia	79867	TCTN2	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	80776	B9D2	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	10464	PIBF1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	80210	ARMC9	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	25776	CBY1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	27077	B9D1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	403	ARL3	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	403	ARL3	OMIM:618161
HP:0001320	Cerebellar vermis hypoplasia	10804	GJB6	ORPHA:477
HP:0001320	Cerebellar vermis hypoplasia	2706	GJB2	ORPHA:477
HP:0001320	Cerebellar vermis hypoplasia	2615	LRRC32	OMIM:619074
HP:0001320	Cerebellar vermis hypoplasia	4352	MPL	OMIM:604498
HP:0001320	Cerebellar vermis hypoplasia	11340	EXOSC8	OMIM:616081
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:619476
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:617127
HP:0001320	Cerebellar vermis hypoplasia	253738	EBF3	OMIM:617330
HP:0001320	Cerebellar vermis hypoplasia	57187	THOC2	OMIM:300957
HP:0001320	Cerebellar vermis hypoplasia	2892	GRIA3	ORPHA:364028
HP:0001320	Cerebellar vermis hypoplasia	56006	SMG9	OMIM:616920
HP:0001320	Cerebellar vermis hypoplasia	163786	SASS6	OMIM:616402
HP:0001320	Cerebellar vermis hypoplasia	55280	CWF19L1	OMIM:616127
HP:0001320	Cerebellar vermis hypoplasia	55280	CWF19L1	ORPHA:453521
HP:0001320	Cerebellar vermis hypoplasia	29957	SLC25A24	OMIM:612289
HP:0001320	Cerebellar vermis hypoplasia	4361	MRE11	ORPHA:251347
HP:0001320	Cerebellar vermis hypoplasia	8239	USP9X	ORPHA:480880
HP:0001320	Cerebellar vermis hypoplasia	51692	CPSF3	OMIM:619876
HP:0001320	Cerebellar vermis hypoplasia	9289	ADGRG1	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	9289	ADGRG1	ORPHA:101070
HP:0001320	Cerebellar vermis hypoplasia	5297	PI4KA	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	5297	PI4KA	OMIM:616531
HP:0001320	Cerebellar vermis hypoplasia	27286	SRPX2	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	5728	PTEN	ORPHA:101070
HP:0001320	Cerebellar vermis hypoplasia	10236	HNRNPR	OMIM:620073
HP:0001320	Cerebellar vermis hypoplasia	51611	DPH5	OMIM:620070
HP:0001320	Cerebellar vermis hypoplasia	6872	TAF1	OMIM:300966
HP:0001320	Cerebellar vermis hypoplasia	22983	MAST1	OMIM:618273
HP:0001320	Cerebellar vermis hypoplasia	2232	FDXR	ORPHA:543470
HP:0001320	Cerebellar vermis hypoplasia	90416	CCDC32	OMIM:619123
HP:0001320	Cerebellar vermis hypoplasia	283989	TSEN54	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	116461	TSEN15	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	51091	SEPSECS	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	6121	RPE65	OMIM:204100
HP:0001320	Cerebellar vermis hypoplasia	284217	LAMA1	OMIM:615960
HP:0001320	Cerebellar vermis hypoplasia	5591	PRKDC	OMIM:615966
HP:0001320	Cerebellar vermis hypoplasia	3708	ITPR1	OMIM:117360
HP:0001320	Cerebellar vermis hypoplasia	57038	RARS2	OMIM:611523
HP:0001320	Cerebellar vermis hypoplasia	54499	TMCO1	ORPHA:1394
HP:0001320	Cerebellar vermis hypoplasia	79971	WLS	OMIM:619648
HP:0001320	Cerebellar vermis hypoplasia	79633	FAT4	ORPHA:314679
HP:0001320	Cerebellar vermis hypoplasia	8642	DCHS1	ORPHA:314679
HP:0001320	Cerebellar vermis hypoplasia	55691	FRMD4A	OMIM:616819
HP:0001320	Cerebellar vermis hypoplasia	55691	FRMD4A	ORPHA:466688
HP:0001320	Cerebellar vermis hypoplasia	3187	HNRNPH1	OMIM:620083
HP:0001320	Cerebellar vermis hypoplasia	57724	EPG5	OMIM:242840
HP:0001320	Cerebellar vermis hypoplasia	57020	VPS35L	OMIM:619135
HP:0001320	Cerebellar vermis hypoplasia	4123	MAN2C1	OMIM:619775
HP:0001320	Cerebellar vermis hypoplasia	5879	RAC1	OMIM:617751
HP:0001320	Cerebellar vermis hypoplasia	738	VPS51	OMIM:618606
HP:0001320	Cerebellar vermis hypoplasia	8481	OFD1	OMIM:300804
HP:0001320	Cerebellar vermis hypoplasia	8481	OFD1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	23499	MACF1	OMIM:618325
HP:0001320	Cerebellar vermis hypoplasia	2806	GOT2	OMIM:618721
HP:0001320	Cerebellar vermis hypoplasia	3954	LETM1	OMIM:620089
HP:0001320	Cerebellar vermis hypoplasia	84081	NSRP1	OMIM:620001
HP:0001320	Cerebellar vermis hypoplasia	5048	PAFAH1B1	ORPHA:95232
HP:0001320	Cerebellar vermis hypoplasia	9939	RBM8A	OMIM:274000
HP:0001320	Cerebellar vermis hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	22931	RAB18	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	10079	ATP9A	OMIM:620242
HP:0001320	Cerebellar vermis hypoplasia	1376	CPT2	ORPHA:228308
HP:0001320	Cerebellar vermis hypoplasia	10210	TOPORS	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	26123	TCTN3	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	5147	PDE6D	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	317662	FAM149B1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	374654	KIF7	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	9896	FIG4	OMIM:216340
HP:0001320	Cerebellar vermis hypoplasia	23299	BICD2	OMIM:618291
HP:0001320	Cerebellar vermis hypoplasia	129285	PPP1R21	OMIM:619383
HP:0001320	Cerebellar vermis hypoplasia	79023	NUP37	OMIM:618179
HP:0001320	Cerebellar vermis hypoplasia	8295	TRRAP	OMIM:618454
HP:0001320	Cerebellar vermis hypoplasia	9181	ARHGEF2	OMIM:617523
HP:0001320	Cerebellar vermis hypoplasia	2719	GPC3	OMIM:312870
HP:0001320	Cerebellar vermis hypoplasia	2239	GPC4	OMIM:312870
HP:0001320	Cerebellar vermis hypoplasia	55770	EXOC2	OMIM:619306
HP:0001320	Cerebellar vermis hypoplasia	9230	RAB11B	OMIM:617807
HP:0001320	Cerebellar vermis hypoplasia	8905	AP1S2	OMIM:304340
HP:0001320	Cerebellar vermis hypoplasia	80816	ASXL3	ORPHA:352577
HP:0001320	Cerebellar vermis hypoplasia	63895	PIEZO2	OMIM:248700
HP:0001320	Cerebellar vermis hypoplasia	3897	L1CAM	OMIM:304100
HP:0001320	Cerebellar vermis hypoplasia	2972	BRF1	ORPHA:444072
HP:0001320	Cerebellar vermis hypoplasia	652	BMP4	OMIM:607932
HP:0001320	Cerebellar vermis hypoplasia	652	BMP4	ORPHA:139471
HP:0001320	Cerebellar vermis hypoplasia	83696	TRAPPC9	OMIM:613192
HP:0001320	Cerebellar vermis hypoplasia	26173	INTS1	OMIM:618571
HP:0001320	Cerebellar vermis hypoplasia	4190	MDH1	OMIM:618959
HP:0001320	Cerebellar vermis hypoplasia	7436	VLDLR	OMIM:224050
HP:0001320	Cerebellar vermis hypoplasia	50628	GEMIN4	OMIM:617913
HP:0001320	Cerebellar vermis hypoplasia	2911	GRM1	OMIM:614831
HP:0001325	Hypoglycemic coma	3158	HMGCS2	OMIM:605911
HP:0001325	Hypoglycemic coma	3767	KCNJ11	ORPHA:276580
HP:0001325	Hypoglycemic coma	2645	GCK	OMIM:602485
HP:0001325	Hypoglycemic coma	56246	MRAP	ORPHA:361
HP:0001325	Hypoglycemic coma	6770	STAR	ORPHA:361
HP:0001325	Hypoglycemic coma	4158	MC2R	ORPHA:361
HP:0001325	Hypoglycemic coma	23530	NNT	ORPHA:361
HP:0001325	Hypoglycemic coma	23530	NNT	OMIM:614736
HP:0001325	Hypoglycemic coma	10587	TXNRD2	ORPHA:361
HP:0001325	Hypoglycemic coma	3155	HMGCL	ORPHA:20
HP:0001325	Hypoglycemic coma	3643	INSR	OMIM:609968
HP:0001325	Hypoglycemic coma	4791	NFKB2	ORPHA:293978
HP:0001325	Hypoglycemic coma	6927	HNF1A	ORPHA:324575
HP:0001325	Hypoglycemic coma	7351	UCP2	ORPHA:276556
HP:0001325	Hypoglycemic coma	208	AKT2	ORPHA:293964
HP:0001325	Hypoglycemic coma	3033	HADH	OMIM:609975
HP:0001325	Hypoglycemic coma	6833	ABCC8	OMIM:256450
HP:0001325	Hypoglycemic coma	6833	ABCC8	ORPHA:276575
HP:0001325	Hypoglycemic coma	2746	GLUD1	OMIM:606762
HP:0001325	Hypoglycemic coma	2108	ETFA	OMIM:231680
HP:0001325	Hypoglycemic coma	2109	ETFB	OMIM:231680
HP:0001325	Hypoglycemic coma	2110	ETFDH	OMIM:231680
HP:0001326	EEG with irregular generalized spike and wave complexes	401474	SAMD12	OMIM:601068
HP:0001326	EEG with irregular generalized spike and wave complexes	57465	TBC1D24	ORPHA:352596
HP:0001326	EEG with irregular generalized spike and wave complexes	56910	STARD7	OMIM:607876
HP:0001326	EEG with irregular generalized spike and wave complexes	27286	SRPX2	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	2903	GRIN2A	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	2566	GABRG2	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	6513	SLC2A1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	8831	SYNGAP1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	1173	AP2M1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	6323	SCN1A	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	340533	NEXMIF	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	1106	CHD2	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	6529	SLC6A1	ORPHA:1942
HP:0001327	Photosensitive myoclonic seizure	154881	KCTD7	ORPHA:263516
HP:0001327	Photosensitive myoclonic seizure	6335	SCN9A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6326	SCN2A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	2554	GABRA1	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6323	SCN1A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6324	SCN1B	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	57526	PCDH19	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	2566	GABRG2	ORPHA:33069
HP:0001328	Specific learning disability	2137	EXTL3	ORPHA:508533
HP:0001328	Specific learning disability	4524	MTHFR	ORPHA:395
HP:0001328	Specific learning disability	6513	SLC2A1	ORPHA:64280
HP:0001328	Specific learning disability	6513	SLC2A1	ORPHA:98811
HP:0001328	Specific learning disability	6513	SLC2A1	OMIM:606777
HP:0001328	Specific learning disability	2562	GABRB3	ORPHA:64280
HP:0001328	Specific learning disability	2554	GABRA1	ORPHA:64280
HP:0001328	Specific learning disability	8912	CACNA1H	ORPHA:64280
HP:0001328	Specific learning disability	8629	JRK	ORPHA:64280
HP:0001328	Specific learning disability	2566	GABRG2	ORPHA:64280
HP:0001328	Specific learning disability	2566	GABRG2	ORPHA:1945
HP:0001328	Specific learning disability	6309	SC5D	ORPHA:46059
HP:0001328	Specific learning disability	3094	HINT1	ORPHA:324442
HP:0001328	Specific learning disability	161742	SPRED1	OMIM:611431
HP:0001328	Specific learning disability	161742	SPRED1	ORPHA:137605
HP:0001328	Specific learning disability	6228	RPS23	OMIM:617412
HP:0001328	Specific learning disability	4487	MSX1	ORPHA:199302
HP:0001328	Specific learning disability	5818	NECTIN1	ORPHA:199302
HP:0001328	Specific learning disability	8626	TP63	ORPHA:199302
HP:0001328	Specific learning disability	3664	IRF6	ORPHA:199302
HP:0001328	Specific learning disability	3664	IRF6	ORPHA:1300
HP:0001328	Specific learning disability	79783	SUGCT	ORPHA:35706
HP:0001328	Specific learning disability	6687	SPG7	ORPHA:99013
HP:0001328	Specific learning disability	4125	MAN2B1	ORPHA:309282
HP:0001328	Specific learning disability	3481	IGF2	ORPHA:231144
HP:0001328	Specific learning disability	283120	H19	ORPHA:231144
HP:0001328	Specific learning disability	55249	YY1AP1	ORPHA:79094
HP:0001328	Specific learning disability	23600	AMACR	ORPHA:79095
HP:0001328	Specific learning disability	129563	DIS3L2	ORPHA:2849
HP:0001328	Specific learning disability	150468	CKAP2L	ORPHA:3255
HP:0001328	Specific learning disability	2188	FANCF	OMIM:603467
HP:0001328	Specific learning disability	51360	MBTPS2	ORPHA:2273
HP:0001328	Specific learning disability	170302	ARX	OMIM:300215
HP:0001328	Specific learning disability	10381	TUBB3	OMIM:600638
HP:0001328	Specific learning disability	215	ABCD1	ORPHA:139396
HP:0001328	Specific learning disability	3034	HAL	ORPHA:2157
HP:0001328	Specific learning disability	55157	DARS2	ORPHA:137898
HP:0001328	Specific learning disability	93986	FOXP2	ORPHA:209908
HP:0001328	Specific learning disability	84100	ARL6	OMIM:209900
HP:0001328	Specific learning disability	79140	CCDC28B	OMIM:209900
HP:0001328	Specific learning disability	582	BBS1	OMIM:209900
HP:0001328	Specific learning disability	5832	ALDH18A1	OMIM:601162
HP:0001328	Specific learning disability	1130	LYST	ORPHA:167
HP:0001328	Specific learning disability	6899	TBX1	OMIM:188400
HP:0001328	Specific learning disability	6899	TBX1	OMIM:192430
HP:0001328	Specific learning disability	6899	TBX1	ORPHA:567
HP:0001328	Specific learning disability	4763	NF1	ORPHA:363700
HP:0001328	Specific learning disability	4763	NF1	OMIM:601321
HP:0001328	Specific learning disability	4763	NF1	OMIM:162200
HP:0001328	Specific learning disability	4763	NF1	ORPHA:97685
HP:0001328	Specific learning disability	4763	NF1	ORPHA:638
HP:0001328	Specific learning disability	26053	AUTS2	ORPHA:352490
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:289266
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:163721
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:1945
HP:0001328	Specific learning disability	80208	SPG11	ORPHA:2822
HP:0001328	Specific learning disability	80208	SPG11	OMIM:604360
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93926
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93924
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93925
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:280195
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:220386
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93926
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93924
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93925
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:280195
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:220386
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93926
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93924
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93925
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:280195
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:220386
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93926
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93924
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93925
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:280195
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:220386
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93926
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93924
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93925
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:280195
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:220386
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93926
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93924
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93925
HP:0001328	Specific learning disability	6469	SHH	ORPHA:280195
HP:0001328	Specific learning disability	6469	SHH	ORPHA:220386
HP:0001328	Specific learning disability	6469	SHH	OMIM:147250
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93926
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93924
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93925
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:280195
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:220386
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93926
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93924
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93925
HP:0001328	Specific learning disability	6491	STIL	ORPHA:280195
HP:0001328	Specific learning disability	6491	STIL	ORPHA:220386
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93926
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93924
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93925
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:280195
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:220386
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93926
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93924
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93925
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:280195
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:220386
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93926
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93924
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93925
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:280195
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:220386
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93926
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93924
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93925
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:280195
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:220386
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93926
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93924
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93925
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:280195
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:220386
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93926
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93924
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93925
HP:0001328	Specific learning disability	50937	CDON	ORPHA:280195
HP:0001328	Specific learning disability	50937	CDON	ORPHA:220386
HP:0001328	Specific learning disability	2260	FGFR1	ORPHA:93924
HP:0001328	Specific learning disability	2260	FGFR1	ORPHA:220386
HP:0001328	Specific learning disability	23007	PLCH1	ORPHA:93925
HP:0001328	Specific learning disability	10735	STAG2	ORPHA:93925
HP:0001328	Specific learning disability	10735	STAG2	ORPHA:220386
HP:0001328	Specific learning disability	89910	UBE3B	ORPHA:2707
HP:0001328	Specific learning disability	10382	TUBB4A	OMIM:612438
HP:0001328	Specific learning disability	79158	GNPTAB	OMIM:252600
HP:0001328	Specific learning disability	112476	PRRT2	ORPHA:98811
HP:0001328	Specific learning disability	54496	PRMT7	ORPHA:464288
HP:0001328	Specific learning disability	2746	GLUD1	ORPHA:35878
HP:0001328	Specific learning disability	7840	ALMS1	ORPHA:64
HP:0001328	Specific learning disability	1593	CYP27A1	ORPHA:909
HP:0001328	Specific learning disability	1857	DVL3	ORPHA:3107
HP:0001328	Specific learning disability	7474	WNT5A	ORPHA:3107
HP:0001328	Specific learning disability	1855	DVL1	ORPHA:3107
HP:0001328	Specific learning disability	2535	FZD2	ORPHA:3107
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:163721
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:98889
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:1945
HP:0001328	Specific learning disability	7454	WAS	ORPHA:906
HP:0001328	Specific learning disability	7456	WIPF1	ORPHA:906
HP:0001328	Specific learning disability	10056	FARSB	OMIM:613658
HP:0001328	Specific learning disability	81031	SLC2A10	ORPHA:3342
HP:0001328	Specific learning disability	9289	ADGRG1	ORPHA:98889
HP:0001328	Specific learning disability	5297	PI4KA	ORPHA:98889
HP:0001328	Specific learning disability	79228	THOC6	ORPHA:363444
HP:0001328	Specific learning disability	4644	MYO5A	ORPHA:33445
HP:0001328	Specific learning disability	347733	TUBB2B	OMIM:610031
HP:0001328	Specific learning disability	81887	LAS1L	ORPHA:3459
HP:0001328	Specific learning disability	55869	HDAC8	ORPHA:3459
HP:0001328	Specific learning disability	641	BLM	OMIM:210900
HP:0001328	Specific learning disability	182	JAG1	OMIM:118450
HP:0001328	Specific learning disability	7248	TSC1	OMIM:191100
HP:0001328	Specific learning disability	7248	TSC1	ORPHA:805
HP:0001328	Specific learning disability	9772	TMEM94	OMIM:618316
HP:0001328	Specific learning disability	9993	DGCR2	OMIM:192430
HP:0001328	Specific learning disability	8220	ESS2	OMIM:192430
HP:0001328	Specific learning disability	8214	DGCR6	OMIM:192430
HP:0001328	Specific learning disability	54487	DGCR8	OMIM:192430
HP:0001328	Specific learning disability	2324	FLT4	ORPHA:79452
HP:0001328	Specific learning disability	57165	GJC2	ORPHA:79452
HP:0001328	Specific learning disability	56652	TWNK	OMIM:271245
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:98754
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:177904
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:177901
HP:0001328	Specific learning disability	4692	NDN	ORPHA:98754
HP:0001328	Specific learning disability	4692	NDN	ORPHA:177904
HP:0001328	Specific learning disability	4692	NDN	ORPHA:177901
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:98754
HP:0001328	Specific learning disability	54551	MAGEL2	OMIM:176270
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:177904
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:177901
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:398069
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:98754
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:177904
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:177901
HP:0001328	Specific learning disability	8218	CLTCL1	ORPHA:453510
HP:0001328	Specific learning disability	9725	TMEM63A	OMIM:618688
HP:0001328	Specific learning disability	3458	IFNG	ORPHA:805
HP:0001328	Specific learning disability	3458	IFNG	OMIM:613254
HP:0001328	Specific learning disability	7249	TSC2	ORPHA:805
HP:0001328	Specific learning disability	7249	TSC2	OMIM:613254
HP:0001328	Specific learning disability	81846	SBF2	ORPHA:99956
HP:0001328	Specific learning disability	226	ALDOA	ORPHA:57
HP:0001328	Specific learning disability	25970	SH2B1	ORPHA:261197
HP:0001328	Specific learning disability	23503	ZFYVE26	ORPHA:100996
HP:0001328	Specific learning disability	5587	PRKD1	OMIM:617364
HP:0001328	Specific learning disability	63895	PIEZO2	ORPHA:2461
HP:0001328	Specific learning disability	165918	RNF168	ORPHA:420741
HP:0001328	Specific learning disability	4089	SMAD4	ORPHA:2588
HP:0001328	Specific learning disability	5888	RAD51	ORPHA:238722
HP:0001328	Specific learning disability	10126	DNAL4	ORPHA:238722
HP:0001328	Specific learning disability	9423	NTN1	ORPHA:238722
HP:0001328	Specific learning disability	1630	DCC	ORPHA:238722
HP:0001328	Specific learning disability	4558	MT-TF	ORPHA:550
HP:0001328	Specific learning disability	4572	MT-TQ	ORPHA:550
HP:0001328	Specific learning disability	4512	MT-CO1	ORPHA:550
HP:0001328	Specific learning disability	4513	MT-CO2	ORPHA:550
HP:0001328	Specific learning disability	4514	MT-CO3	ORPHA:550
HP:0001328	Specific learning disability	4578	MT-TW	ORPHA:550
HP:0001328	Specific learning disability	4540	MT-ND5	ORPHA:550
HP:0001328	Specific learning disability	4541	MT-ND6	ORPHA:550
HP:0001328	Specific learning disability	4535	MT-ND1	ORPHA:550
HP:0001328	Specific learning disability	4538	MT-ND4	ORPHA:550
HP:0001328	Specific learning disability	4567	MT-TL1	ORPHA:550
HP:0001328	Specific learning disability	4574	MT-TS1	ORPHA:550
HP:0001328	Specific learning disability	4575	MT-TS2	ORPHA:550
HP:0001328	Specific learning disability	4564	MT-TH	ORPHA:550
HP:0001328	Specific learning disability	9158	FIBP	ORPHA:500095
HP:0001328	Specific learning disability	22856	CHSY1	ORPHA:363417
HP:0001328	Specific learning disability	51621	KLF13	OMIM:612001
HP:0001328	Specific learning disability	1139	CHRNA7	OMIM:612001
HP:0001328	Specific learning disability	79813	EHMT1	ORPHA:96147
HP:0001328	Specific learning disability	7681	MKRN3	OMIM:176270
HP:0001328	Specific learning disability	3653	IPW	OMIM:176270
HP:0001328	Specific learning disability	791114	PWRN1	OMIM:176270
HP:0001328	Specific learning disability	100033413	SNORD116-1	OMIM:176270
HP:0001328	Specific learning disability	8924	HERC2	OMIM:176270
HP:0001328	Specific learning disability	145624	PWAR1	OMIM:176270
HP:0001328	Specific learning disability	23742	NPAP1	OMIM:176270
HP:0001328	Specific learning disability	338433	SNORD115-1	OMIM:176270
HP:0001328	Specific learning disability	5621	PRNP	ORPHA:280397
HP:0001328	Specific learning disability	2334	AFF2	ORPHA:100973
HP:0001328	Specific learning disability	9948	WDR1	OMIM:150550
HP:0001328	Specific learning disability	51119	SBDS	OMIM:260400
HP:0001328	Specific learning disability	134218	DNAJC21	OMIM:260400
HP:0001328	Specific learning disability	6729	SRP54	OMIM:260400
HP:0001328	Specific learning disability	6492	SIM1	ORPHA:171829
HP:0001328	Specific learning disability	6492	SIM1	ORPHA:398079
HP:0001328	Specific learning disability	443	ASPA	ORPHA:314918
HP:0001328	Specific learning disability	22880	MORC2	ORPHA:466768
HP:0001328	Specific learning disability	26277	TINF2	OMIM:127550
HP:0001328	Specific learning disability	7012	TERC	OMIM:127550
HP:0001328	Specific learning disability	7015	TERT	OMIM:127550
HP:0001328	Specific learning disability	26128	KIFBP	ORPHA:66629
HP:0001328	Specific learning disability	3736	KCNA1	ORPHA:37612
HP:0001328	Specific learning disability	10166	SLC25A15	ORPHA:415
HP:0001328	Specific learning disability	10166	SLC25A15	OMIM:238970
HP:0001328	Specific learning disability	84892	POMGNT2	ORPHA:899
HP:0001328	Specific learning disability	148789	B3GALNT2	ORPHA:899
HP:0001328	Specific learning disability	79147	FKRP	ORPHA:899
HP:0001328	Specific learning disability	29954	POMT2	ORPHA:899
HP:0001328	Specific learning disability	29954	POMT2	ORPHA:206559
HP:0001328	Specific learning disability	9215	LARGE1	ORPHA:899
HP:0001328	Specific learning disability	1282	COL4A1	ORPHA:899
HP:0001328	Specific learning disability	729920	CRPPA	ORPHA:899
HP:0001328	Specific learning disability	10329	RXYLT1	ORPHA:899
HP:0001328	Specific learning disability	1605	DAG1	ORPHA:899
HP:0001328	Specific learning disability	11041	B4GAT1	ORPHA:899
HP:0001328	Specific learning disability	10585	POMT1	ORPHA:899
HP:0001328	Specific learning disability	84197	POMK	ORPHA:899
HP:0001328	Specific learning disability	2218	FKTN	ORPHA:899
HP:0001328	Specific learning disability	55624	POMGNT1	ORPHA:899
HP:0001328	Specific learning disability	2592	GALT	ORPHA:79239
HP:0001328	Specific learning disability	27235	COQ2	OMIM:607426
HP:0001328	Specific learning disability	6609	SMPD1	ORPHA:77293
HP:0001328	Specific learning disability	4052	LTBP1	OMIM:619451
HP:0001328	Specific learning disability	2664	GDI1	OMIM:300849
HP:0001328	Specific learning disability	3759	KCNJ2	OMIM:170390
HP:0001328	Specific learning disability	3759	KCNJ2	ORPHA:37553
HP:0001328	Specific learning disability	23389	MED13L	ORPHA:369891
HP:0001328	Specific learning disability	1312	COMT	ORPHA:567
HP:0001328	Specific learning disability	221037	JMJD1C	ORPHA:567
HP:0001328	Specific learning disability	2812	GP1BB	ORPHA:567
HP:0001328	Specific learning disability	6239	RREB1	ORPHA:567
HP:0001328	Specific learning disability	7290	HIRA	ORPHA:567
HP:0001328	Specific learning disability	9632	SEC24C	ORPHA:567
HP:0001328	Specific learning disability	7353	UFD1	ORPHA:567
HP:0001328	Specific learning disability	421	ARVCF	ORPHA:567
HP:0001328	Specific learning disability	81620	CDT1	ORPHA:2554
HP:0001328	Specific learning disability	5000	ORC4	ORPHA:2554
HP:0001328	Specific learning disability	23594	ORC6	ORPHA:2554
HP:0001328	Specific learning disability	8318	CDC45	ORPHA:2554
HP:0001328	Specific learning disability	990	CDC6	ORPHA:2554
HP:0001328	Specific learning disability	4998	ORC1	ORPHA:2554
HP:0001328	Specific learning disability	51053	GMNN	ORPHA:2554
HP:0001328	Specific learning disability	54539	NDUFB11	ORPHA:2556
HP:0001328	Specific learning disability	1349	COX7B	ORPHA:2556
HP:0001328	Specific learning disability	3052	HCCS	ORPHA:2556
HP:0001328	Specific learning disability	7703	PCGF2	OMIM:618371
HP:0001328	Specific learning disability	23111	SPART	ORPHA:101000
HP:0001328	Specific learning disability	8091	HMGA2	ORPHA:94063
HP:0001328	Specific learning disability	23592	LEMD3	ORPHA:94063
HP:0001328	Specific learning disability	5283	PIGH	OMIM:618010
HP:0001328	Specific learning disability	2475	MTOR	ORPHA:457485
HP:0001328	Specific learning disability	4613	MYCN	OMIM:164280
HP:0001328	Specific learning disability	4613	MYCN	ORPHA:391641
HP:0001328	Specific learning disability	139285	AMER1	ORPHA:2780
HP:0001328	Specific learning disability	4990	SIX6	OMIM:206900
HP:0001328	Specific learning disability	6657	SOX2	OMIM:206900
HP:0001328	Specific learning disability	64374	SIL1	ORPHA:559
HP:0001328	Specific learning disability	51763	INPP5K	ORPHA:559
HP:0001328	Specific learning disability	760	CA2	ORPHA:2785
HP:0001328	Specific learning disability	1756	DMD	ORPHA:98896
HP:0001328	Specific learning disability	8425	LTBP4	ORPHA:98896
HP:0001328	Specific learning disability	538	ATP7A	ORPHA:198
HP:0001328	Specific learning disability	2892	GRIA3	ORPHA:364028
HP:0001328	Specific learning disability	10367	MICU1	OMIM:615673
HP:0001328	Specific learning disability	22866	CNKSR2	OMIM:301008
HP:0001328	Specific learning disability	9791	PTDSS1	ORPHA:2658
HP:0001328	Specific learning disability	6925	TCF4	ORPHA:2896
HP:0001328	Specific learning disability	2887	GRB10	ORPHA:96182
HP:0001328	Specific learning disability	6595	SMARCA2	ORPHA:3051
HP:0001328	Specific learning disability	60676	PAPPA2	OMIM:619489
HP:0001328	Specific learning disability	7204	TRIO	ORPHA:476126
HP:0001328	Specific learning disability	1806	DPYD	ORPHA:1675
HP:0001328	Specific learning disability	3832	KIF11	ORPHA:2526
HP:0001328	Specific learning disability	6853	SYN1	ORPHA:85294
HP:0001328	Specific learning disability	6853	SYN1	OMIM:300491
HP:0001328	Specific learning disability	8243	SMC1A	ORPHA:220386
HP:0001328	Specific learning disability	100151683	RNU4ATAC	ORPHA:2636
HP:0001328	Specific learning disability	23522	KAT6B	ORPHA:3047
HP:0001328	Specific learning disability	26123	TCTN3	ORPHA:2753
HP:0001328	Specific learning disability	71	ACTG1	ORPHA:2995
HP:0001328	Specific learning disability	60	ACTB	ORPHA:2995
HP:0001328	Specific learning disability	5286	PIK3C2A	ORPHA:557003
HP:0001328	Specific learning disability	5573	PRKAR1A	ORPHA:280651
HP:0001328	Specific learning disability	5144	PDE4D	ORPHA:280651
HP:0001328	Specific learning disability	4914	NTRK1	ORPHA:642
HP:0001328	Specific learning disability	51109	RDH11	ORPHA:436245
HP:0001328	Specific learning disability	4281	MID1	ORPHA:2745
HP:0001328	Specific learning disability	55294	FBXW7	OMIM:620012
HP:0001328	Specific learning disability	5605	MAP2K2	ORPHA:638
HP:0001328	Specific learning disability	3762	KCNJ5	ORPHA:37553
HP:0001328	Specific learning disability	25978	CHMP2B	OMIM:600795
HP:0001328	Specific learning disability	25978	CHMP2B	ORPHA:275864
HP:0001328	Specific learning disability	2332	FMR1	ORPHA:449291
HP:0001328	Specific learning disability	1540	CYLD	OMIM:619132
HP:0001328	Specific learning disability	6736	SRY	ORPHA:1772
HP:0001328	Specific learning disability	5663	PSEN1	ORPHA:275864
HP:0001328	Specific learning disability	2896	GRN	ORPHA:275864
HP:0001328	Specific learning disability	54664	TMEM106B	ORPHA:275864
HP:0001328	Specific learning disability	8878	SQSTM1	ORPHA:275864
HP:0001328	Specific learning disability	8878	SQSTM1	ORPHA:275872
HP:0001328	Specific learning disability	4137	MAPT	ORPHA:275864
HP:0001328	Specific learning disability	54209	TREM2	ORPHA:275864
HP:0001328	Specific learning disability	7415	VCP	ORPHA:275864
HP:0001328	Specific learning disability	7415	VCP	ORPHA:275872
HP:0001328	Specific learning disability	7415	VCP	ORPHA:52430
HP:0001328	Specific learning disability	11284	PNKP	ORPHA:459033
HP:0001328	Specific learning disability	2521	FUS	ORPHA:275872
HP:0001328	Specific learning disability	23435	TARDBP	ORPHA:275872
HP:0001328	Specific learning disability	29110	TBK1	ORPHA:275872
HP:0001328	Specific learning disability	400916	CHCHD10	ORPHA:275872
HP:0001328	Specific learning disability	203228	C9orf72	OMIM:105550
HP:0001328	Specific learning disability	773	CACNA1A	OMIM:141500
HP:0001328	Specific learning disability	4131	MAP1B	OMIM:618918
HP:0001328	Specific learning disability	3178	HNRNPA1	ORPHA:52430
HP:0001328	Specific learning disability	3181	HNRNPA2B1	ORPHA:52430
HP:0001328	Specific learning disability	64324	NSD1	ORPHA:821
HP:0001328	Specific learning disability	29072	SETD2	ORPHA:821
HP:0001328	Specific learning disability	10297	APC2	ORPHA:821
HP:0001328	Specific learning disability	8398	PLA2G6	ORPHA:199351
HP:0001328	Specific learning disability	324	APC	ORPHA:261584
HP:0001328	Specific learning disability	80207	OPA3	ORPHA:67036
HP:0001328	Specific learning disability	123606	NIPA1	ORPHA:261183
HP:0001328	Specific learning disability	7283	TUBG1	ORPHA:261183
HP:0001328	Specific learning disability	81614	NIPA2	ORPHA:261183
HP:0001328	Specific learning disability	6711	SPTBN1	OMIM:619475
HP:0001328	Specific learning disability	1757	SARDH	ORPHA:3129
HP:0001328	Specific learning disability	161582	DNAAF4	OMIM:127700
HP:0001328	Specific learning disability	6938	TCF12	OMIM:619718
HP:0001328	Specific learning disability	55187	VPS13D	ORPHA:95434
HP:0001328	Specific learning disability	27072	VPS41	ORPHA:95434
HP:0001328	Specific learning disability	84978	FRMD5	OMIM:620094
HP:0001328	Specific learning disability	6786	STIM1	OMIM:185070
HP:0001328	Specific learning disability	2729	GCLC	ORPHA:33574
HP:0001328	Specific learning disability	4854	NOTCH3	ORPHA:136
HP:0001328	Specific learning disability	3064	HTT	ORPHA:399
HP:0001328	Specific learning disability	6515	SLC2A3	ORPHA:399
HP:0001328	Specific learning disability	5718	PSMD12	ORPHA:529962
HP:0001328	Specific learning disability	2186	BPTF	ORPHA:529962
HP:0001328	Specific learning disability	23203	PMPCA	ORPHA:1170
HP:0001328	Specific learning disability	5575	PRKAR1B	ORPHA:412066
HP:0001328	Specific learning disability	3748	KCNC3	ORPHA:98768
HP:0001328	Specific learning disability	51085	MLXIPL	OMIM:194050
HP:0001328	Specific learning disability	2006	ELN	OMIM:194050
HP:0011540	Congenitally corrected transposition of the great arteries	100128908	CIROP	OMIM:619702
HP:0011540	Congenitally corrected transposition of the great arteries	1770	DNAH9	OMIM:618300
HP:0011540	Congenitally corrected transposition of the great arteries	168507	PKD1L1	OMIM:617205
HP:0011545	Abnormal connection of the cardiac segments	22827	PUF60	ORPHA:508498
HP:0011545	Abnormal connection of the cardiac segments	2294	FOXF1	OMIM:265380
HP:0011545	Abnormal connection of the cardiac segments	2294	FOXF1	ORPHA:210122
HP:0011545	Abnormal connection of the cardiac segments	10262	SF3B4	OMIM:154400
HP:0011545	Abnormal connection of the cardiac segments	123606	NIPA1	ORPHA:261183
HP:0011545	Abnormal connection of the cardiac segments	7283	TUBG1	ORPHA:261183
HP:0011545	Abnormal connection of the cardiac segments	81614	NIPA2	ORPHA:261183
HP:0011545	Abnormal connection of the cardiac segments	1024	CDK8	OMIM:618748
HP:0011545	Abnormal connection of the cardiac segments	100151683	RNU4ATAC	OMIM:210710
HP:0011545	Abnormal connection of the cardiac segments	23556	PIGN	ORPHA:2059
HP:0011545	Abnormal connection of the cardiac segments	5885	RAD21	OMIM:614701
HP:0011545	Abnormal connection of the cardiac segments	7355	SLC35A2	ORPHA:356961
HP:0011545	Abnormal connection of the cardiac segments	22800	RRAS2	OMIM:618624
HP:0011545	Abnormal connection of the cardiac segments	79813	EHMT1	ORPHA:96147
HP:0011545	Abnormal connection of the cardiac segments	10992	SF3B2	OMIM:164210
HP:0011545	Abnormal connection of the cardiac segments	1131	CHRM3	ORPHA:2970
HP:0011545	Abnormal connection of the cardiac segments	64220	STRA6	OMIM:601186
HP:0011545	Abnormal connection of the cardiac segments	23414	ZFPM2	ORPHA:3303
HP:0011545	Abnormal connection of the cardiac segments	23414	ZFPM2	OMIM:187500
HP:0011545	Abnormal connection of the cardiac segments	3791	KDR	ORPHA:3303
HP:0011545	Abnormal connection of the cardiac segments	182	JAG1	ORPHA:3303
HP:0011545	Abnormal connection of the cardiac segments	182	JAG1	OMIM:118450
HP:0011545	Abnormal connection of the cardiac segments	182	JAG1	OMIM:187500
HP:0011545	Abnormal connection of the cardiac segments	182	JAG1	OMIM:617992
HP:0011545	Abnormal connection of the cardiac segments	2324	FLT4	ORPHA:3303
HP:0011545	Abnormal connection of the cardiac segments	2324	FLT4	OMIM:618780
HP:0011545	Abnormal connection of the cardiac segments	10370	CITED2	ORPHA:3303
HP:0011545	Abnormal connection of the cardiac segments	6299	SALL1	OMIM:107480
HP:0011545	Abnormal connection of the cardiac segments	6299	SALL1	ORPHA:857
HP:0011545	Abnormal connection of the cardiac segments	8443	GNPAT	OMIM:222765
HP:0011545	Abnormal connection of the cardiac segments	1349	COX7B	OMIM:300887
HP:0011545	Abnormal connection of the cardiac segments	26275	HIBCH	ORPHA:88639
HP:0011545	Abnormal connection of the cardiac segments	26275	HIBCH	OMIM:250620
HP:0011545	Abnormal connection of the cardiac segments	29998	BICRA	OMIM:619325
HP:0011545	Abnormal connection of the cardiac segments	83479	DDX59	OMIM:174300
HP:0011545	Abnormal connection of the cardiac segments	83479	DDX59	ORPHA:2919
HP:0011545	Abnormal connection of the cardiac segments	10847	SRCAP	ORPHA:2044
HP:0011545	Abnormal connection of the cardiac segments	23384	SPECC1L	ORPHA:1519
HP:0011545	Abnormal connection of the cardiac segments	9723	SEMA3E	ORPHA:138
HP:0011545	Abnormal connection of the cardiac segments	2260	FGFR1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	28514	DLL1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	2253	FGF8	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	6496	SIX3	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	7050	TGIF1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	6469	SHH	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	51684	SUFU	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	7546	ZIC2	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	2619	GAS1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	84976	DISP1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	2736	GLI2	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	8928	FOXH1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	5727	PTCH1	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	50937	CDON	ORPHA:280200
HP:0011545	Abnormal connection of the cardiac segments	57492	ARID1B	OMIM:135900
HP:0011545	Abnormal connection of the cardiac segments	57492	ARID1B	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6598	SMARCB1	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6659	SOX4	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	8289	ARID1A	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	5977	DPF2	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6601	SMARCC2	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6602	SMARCD1	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	196528	ARID2	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6605	SMARCE1	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	6664	SOX11	ORPHA:1465
HP:0011545	Abnormal connection of the cardiac segments	1147	CHUK	OMIM:613630
HP:0011545	Abnormal connection of the cardiac segments	1108	CHD4	OMIM:617159
HP:0011545	Abnormal connection of the cardiac segments	7026	NR2F2	OMIM:615779
HP:0011545	Abnormal connection of the cardiac segments	64359	NXN	ORPHA:1507
HP:0011545	Abnormal connection of the cardiac segments	4920	ROR2	ORPHA:1507
HP:0011545	Abnormal connection of the cardiac segments	672	BRCA1	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	10459	MAD2L2	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	7516	XRCC2	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	29089	UBE2T	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	675	BRCA2	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	55120	FANCL	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2177	FANCD2	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2175	FANCA	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2176	FANCC	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2178	FANCE	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2188	FANCF	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2189	FANCG	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	5888	RAD51	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	5889	RAD51C	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	55159	RFWD3	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	83990	BRIP1	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	57697	FANCM	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	79728	PALB2	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	84464	SLX4	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	2072	ERCC4	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	55215	FANCI	ORPHA:84
HP:0011545	Abnormal connection of the cardiac segments	1312	COMT	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	221037	JMJD1C	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	2812	GP1BB	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	6239	RREB1	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	7290	HIRA	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	9632	SEC24C	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	7353	UFD1	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	421	ARVCF	ORPHA:567
HP:0011545	Abnormal connection of the cardiac segments	9839	ZEB2	ORPHA:261552
HP:0011545	Abnormal connection of the cardiac segments	9839	ZEB2	ORPHA:261537
HP:0011545	Abnormal connection of the cardiac segments	9896	FIG4	ORPHA:3472
HP:0011545	Abnormal connection of the cardiac segments	9896	FIG4	OMIM:216340
HP:0011545	Abnormal connection of the cardiac segments	55697	VAC14	ORPHA:3472
HP:0011545	Abnormal connection of the cardiac segments	7852	CXCR4	ORPHA:51636
HP:0011545	Abnormal connection of the cardiac segments	57167	SALL4	ORPHA:959
HP:0011545	Abnormal connection of the cardiac segments	57167	SALL4	OMIM:147750
HP:0011545	Abnormal connection of the cardiac segments	8241	RBM10	OMIM:311900
HP:0011545	Abnormal connection of the cardiac segments	8241	RBM10	ORPHA:2886
HP:0011545	Abnormal connection of the cardiac segments	23118	TAB2	OMIM:614980
HP:0011545	Abnormal connection of the cardiac segments	8092	ALX1	ORPHA:306542
HP:0011545	Abnormal connection of the cardiac segments	6135	RPL11	OMIM:612562
HP:0011545	Abnormal connection of the cardiac segments	6125	RPL5	OMIM:612561
HP:0011545	Abnormal connection of the cardiac segments	57514	ARHGAP31	OMIM:100300
HP:0011545	Abnormal connection of the cardiac segments	57514	ARHGAP31	ORPHA:974
HP:0011545	Abnormal connection of the cardiac segments	6804	STX1A	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	7461	CLIP2	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	84277	DNAJC30	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	8468	FKBP6	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	5982	RFC2	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	2969	GTF2I	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	3984	LIMK1	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	9569	GTF2IRD1	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	155382	VPS37D	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	155368	METTL27	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	114049	BUD23	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	7458	EIF4H	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	84163	GTF2IRD2	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	9275	BCL7B	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	26608	TBL2	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	653361	NCF1	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	135886	TMEM270	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	51085	MLXIPL	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	9031	BAZ1B	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	2006	ELN	ORPHA:904
HP:0011545	Abnormal connection of the cardiac segments	5590	PRKCZ	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	2563	GABRD	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	23013	SPEN	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	8510	MMP23B	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	7798	LUZP1	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	6497	SKI	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	10630	PDPN	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	3339	HSPG2	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	10277	UBE4B	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	8514	KCNAB2	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	473	RERE	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	63976	PRDM16	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	54897	CASZ1	ORPHA:1606
HP:0011545	Abnormal connection of the cardiac segments	3579	CXCR2	OMIM:619407
HP:0011545	Abnormal connection of the cardiac segments	2542	SLC37A4	OMIM:619525
HP:0011545	Abnormal connection of the cardiac segments	9993	DGCR2	OMIM:192430
HP:0011545	Abnormal connection of the cardiac segments	8220	ESS2	OMIM:192430
HP:0011545	Abnormal connection of the cardiac segments	8214	DGCR6	OMIM:192430
HP:0011545	Abnormal connection of the cardiac segments	54487	DGCR8	OMIM:192430
HP:0011545	Abnormal connection of the cardiac segments	51339	DACT1	ORPHA:857
HP:0011545	Abnormal connection of the cardiac segments	673	BRAF	OMIM:613707
HP:0011545	Abnormal connection of the cardiac segments	3516	RBPJ	ORPHA:974
HP:0011545	Abnormal connection of the cardiac segments	57572	DOCK6	ORPHA:974
HP:0011545	Abnormal connection of the cardiac segments	285203	EOGT	ORPHA:974
HP:0011545	Abnormal connection of the cardiac segments	54567	DLL4	ORPHA:974
HP:0011545	Abnormal connection of the cardiac segments	745	MYRF	OMIM:618280
HP:0011545	Abnormal connection of the cardiac segments	775	CACNA1C	OMIM:601005
HP:0011545	Abnormal connection of the cardiac segments	10084	PQBP1	OMIM:309500
HP:0011545	Abnormal connection of the cardiac segments	9652	SKIC3	OMIM:222470
HP:0011545	Abnormal connection of the cardiac segments	9652	SKIC3	ORPHA:84064
HP:0011545	Abnormal connection of the cardiac segments	1663	DDX11	OMIM:613398
HP:0011545	Abnormal connection of the cardiac segments	54916	TMEM260	OMIM:617478
HP:0011545	Abnormal connection of the cardiac segments	8195	MKKS	ORPHA:2473
HP:0011545	Abnormal connection of the cardiac segments	9939	RBM8A	ORPHA:3320
HP:0011545	Abnormal connection of the cardiac segments	9939	RBM8A	OMIM:274000
HP:0011545	Abnormal connection of the cardiac segments	4853	NOTCH2	OMIM:610205
HP:0011545	Abnormal connection of the cardiac segments	28952	CCDC22	ORPHA:7
HP:0011545	Abnormal connection of the cardiac segments	257	ALX3	OMIM:136760
HP:0011545	Abnormal connection of the cardiac segments	2303	FOXC2	OMIM:153400
HP:0011545	Abnormal connection of the cardiac segments	6499	SKIC2	ORPHA:84064
HP:0011545	Abnormal connection of the cardiac segments	27152	INTU	OMIM:617925
HP:0011545	Abnormal connection of the cardiac segments	27152	INTU	OMIM:617926
HP:0011545	Abnormal connection of the cardiac segments	7490	WT1	OMIM:608978
HP:0011545	Abnormal connection of the cardiac segments	7490	WT1	ORPHA:3097
HP:0011545	Abnormal connection of the cardiac segments	137814	NKX2-6	ORPHA:3384
HP:0011545	Abnormal connection of the cardiac segments	137814	NKX2-6	OMIM:217095
HP:0011545	Abnormal connection of the cardiac segments	23129	PLXND1	ORPHA:3384
HP:0011545	Abnormal connection of the cardiac segments	2657	GDF1	OMIM:208530
HP:0011545	Abnormal connection of the cardiac segments	2657	GDF1	OMIM:613854
HP:0011545	Abnormal connection of the cardiac segments	650	BMP2	OMIM:617877
HP:0011545	Abnormal connection of the cardiac segments	9487	PIGL	OMIM:280000
HP:0011545	Abnormal connection of the cardiac segments	9487	PIGL	ORPHA:3474
HP:0011545	Abnormal connection of the cardiac segments	4000	LMNA	ORPHA:1662
HP:0011545	Abnormal connection of the cardiac segments	10269	ZMPSTE24	ORPHA:1662
HP:0011545	Abnormal connection of the cardiac segments	2627	GATA6	ORPHA:2255
HP:0011545	Abnormal connection of the cardiac segments	2627	GATA6	OMIM:600001
HP:0011545	Abnormal connection of the cardiac segments	2627	GATA6	OMIM:217095
HP:0011545	Abnormal connection of the cardiac segments	490	ATP2B1	OMIM:619910
HP:0011545	Abnormal connection of the cardiac segments	23389	MED13L	OMIM:616789
HP:0011545	Abnormal connection of the cardiac segments	2218	FKTN	OMIM:253800
HP:0011545	Abnormal connection of the cardiac segments	6899	TBX1	ORPHA:1727
HP:0011545	Abnormal connection of the cardiac segments	6899	TBX1	OMIM:217095
HP:0011545	Abnormal connection of the cardiac segments	2626	GATA4	ORPHA:251071
HP:0011545	Abnormal connection of the cardiac segments	25981	DNAH1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	115948	ODAD3	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	54768	HYDIN	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	352909	DNAAF3	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	27148	STK36	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	51314	NME8	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	92749	DRC1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	54970	TTC12	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	152110	NEK10	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	8481	OFD1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	2302	FOXJ1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	221421	RSPH9	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	85478	CCDC65	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	55036	CCDC40	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	51364	ZMYND10	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	64446	DNAI2	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	6674	SPAG1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	83544	DNAL1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	89765	RSPH1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	83538	ODAD4	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	200373	CFAP221	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	374407	DNAJB13	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	55172	DNAAF2	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	161582	DNAAF4	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	2622	GAS8	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	23639	DNAAF11	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	27019	DNAI1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	345895	RSPH4A	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	54919	DNAAF5	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	6103	RPGR	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	388389	CCDC103	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	93233	ODAD1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	55130	ODAD2	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	1767	DNAH5	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	83861	RSPH3	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	345643	MCIDAS	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	56683	CFAP298	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	79925	SPEF2	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	10309	CCNO	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	115399	LRRC56	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	139212	DNAAF6	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	123872	DNAAF1	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	85016	CFAP300	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	339829	CCDC39	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	8701	DNAH11	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	1770	DNAH9	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	246176	GAS2L2	ORPHA:244
HP:0011545	Abnormal connection of the cardiac segments	2187	FANCB	OMIM:314390
HP:0011545	Abnormal connection of the cardiac segments	51715	RAB23	OMIM:201000
HP:0011545	Abnormal connection of the cardiac segments	54870	QRICH1	OMIM:617982
HP:0011545	Abnormal connection of the cardiac segments	2702	GJA5	OMIM:612474
HP:0011545	Abnormal connection of the cardiac segments	2703	GJA8	OMIM:612474
HP:0011545	Abnormal connection of the cardiac segments	1954	MEGF8	OMIM:614976
HP:0011545	Abnormal connection of the cardiac segments	220136	CFAP53	OMIM:614779
HP:0011545	Abnormal connection of the cardiac segments	2719	GPC3	OMIM:312870
HP:0011545	Abnormal connection of the cardiac segments	2239	GPC4	OMIM:312870
HP:0011545	Abnormal connection of the cardiac segments	55997	CFC1	OMIM:605376
HP:0011545	Abnormal connection of the cardiac segments	26227	PHGDH	OMIM:256520
HP:0011545	Abnormal connection of the cardiac segments	9897	WASHC5	OMIM:220210
HP:0011545	Abnormal connection of the cardiac segments	10735	STAG2	OMIM:301043
HP:0011545	Abnormal connection of the cardiac segments	6909	TBX2	OMIM:618223
HP:0011545	Abnormal connection of the cardiac segments	23007	PLCH1	OMIM:619895
HP:0011545	Abnormal connection of the cardiac segments	10526	IPO8	OMIM:619472
HP:0011545	Abnormal connection of the cardiac segments	140628	GATA5	OMIM:617912
HP:0011545	Abnormal connection of the cardiac segments	5824	PEX19	OMIM:614886
HP:0011545	Abnormal connection of the cardiac segments	55191	NADSYN1	OMIM:618845
HP:0011545	Abnormal connection of the cardiac segments	526	ATP6V1B2	ORPHA:79500
HP:0011545	Abnormal connection of the cardiac segments	57465	TBC1D24	ORPHA:79500
HP:0011545	Abnormal connection of the cardiac segments	9451	EIF2AK3	ORPHA:1667
HP:0011545	Abnormal connection of the cardiac segments	55593	OTUD5	OMIM:301056
HP:0011545	Abnormal connection of the cardiac segments	4313	MMP2	ORPHA:371428
HP:0011545	Abnormal connection of the cardiac segments	4323	MMP14	ORPHA:371428
HP:0011545	Abnormal connection of the cardiac segments	10743	RAI1	ORPHA:477817
HP:0011545	Abnormal connection of the cardiac segments	54880	BCOR	OMIM:300166
HP:0011545	Abnormal connection of the cardiac segments	285590	SH3PXD2B	OMIM:249420
HP:0011545	Abnormal connection of the cardiac segments	2623	GATA1	OMIM:190685
HP:0011545	Abnormal connection of the cardiac segments	168507	PKD1L1	OMIM:617205
HP:0011545	Abnormal connection of the cardiac segments	55636	CHD7	OMIM:214800
HP:0011545	Abnormal connection of the cardiac segments	7319	UBE2A	ORPHA:163956
HP:0011545	Abnormal connection of the cardiac segments	9772	TMEM94	OMIM:618316
HP:0011545	Abnormal connection of the cardiac segments	5053	PAH	ORPHA:2209
HP:0011545	Abnormal connection of the cardiac segments	5337	PLD1	OMIM:212093
HP:0011545	Abnormal connection of the cardiac segments	8550	MAPKAPK5	OMIM:619869
HP:0011545	Abnormal connection of the cardiac segments	4838	NODAL	OMIM:270100
HP:0011545	Abnormal connection of the cardiac segments	100128908	CIROP	OMIM:619702
HP:0011545	Abnormal connection of the cardiac segments	10128	LRPPRC	OMIM:220111
HP:0011545	Abnormal connection of the cardiac segments	84231	TRAF7	OMIM:618164
HP:0011545	Abnormal connection of the cardiac segments	92002	CCNQ	ORPHA:140952
HP:0011545	Abnormal connection of the cardiac segments	2697	GJA1	ORPHA:2248
HP:0011545	Abnormal connection of the cardiac segments	1482	NKX2-5	ORPHA:2248
HP:0011545	Abnormal connection of the cardiac segments	1482	NKX2-5	OMIM:614435
HP:0011545	Abnormal connection of the cardiac segments	55784	MCTP2	ORPHA:1596
HP:0011545	Abnormal connection of the cardiac segments	2783	GNB2	OMIM:619503
HP:0011545	Abnormal connection of the cardiac segments	118856	MMP21	OMIM:616749
HP:0011545	Abnormal connection of the cardiac segments	4851	NOTCH1	OMIM:109730
HP:0011545	Abnormal connection of the cardiac segments	6597	SMARCA4	OMIM:614609
HP:0011545	Abnormal connection of the cardiac segments	26191	PTPN22	ORPHA:397
HP:0011545	Abnormal connection of the cardiac segments	3106	HLA-B	ORPHA:397
HP:0011545	Abnormal connection of the cardiac segments	3123	HLA-DRB1	ORPHA:397
HP:0011545	Abnormal connection of the cardiac segments	8974	P4HA2	ORPHA:397
HP:0011545	Abnormal connection of the cardiac segments	7547	ZIC3	OMIM:306955
HP:0011545	Abnormal connection of the cardiac segments	93	ACVR2B	OMIM:613751
HP:0011545	Abnormal connection of the cardiac segments	4087	SMAD2	OMIM:619657
HP:0011545	Abnormal connection of the cardiac segments	56006	SMG9	OMIM:619995
HP:0011545	Abnormal connection of the cardiac segments	58499	ZNF462	OMIM:618619
HP:0011546	Abnormal atrioventricular connection	5337	PLD1	OMIM:212093
HP:0011546	Abnormal atrioventricular connection	8550	MAPKAPK5	OMIM:619869
HP:0011546	Abnormal atrioventricular connection	4838	NODAL	OMIM:270100
HP:0011546	Abnormal atrioventricular connection	100128908	CIROP	OMIM:619702
HP:0011546	Abnormal atrioventricular connection	7547	ZIC3	OMIM:306955
HP:0011546	Abnormal atrioventricular connection	10128	LRPPRC	OMIM:220111
HP:0011546	Abnormal atrioventricular connection	84231	TRAF7	OMIM:618164
HP:0011546	Abnormal atrioventricular connection	92002	CCNQ	ORPHA:140952
HP:0011546	Abnormal atrioventricular connection	2697	GJA1	ORPHA:2248
HP:0011546	Abnormal atrioventricular connection	1482	NKX2-5	ORPHA:2248
HP:0011546	Abnormal atrioventricular connection	1482	NKX2-5	OMIM:614435
HP:0011546	Abnormal atrioventricular connection	55784	MCTP2	ORPHA:1596
HP:0011546	Abnormal atrioventricular connection	2783	GNB2	OMIM:619503
HP:0011546	Abnormal atrioventricular connection	118856	MMP21	OMIM:616749
HP:0011546	Abnormal atrioventricular connection	4851	NOTCH1	OMIM:109730
HP:0011546	Abnormal atrioventricular connection	6597	SMARCA4	OMIM:614609
HP:0031979	Abnormal urine carbohydrate level	2517	FUCA1	OMIM:230000
HP:0031979	Abnormal urine carbohydrate level	4125	MAN2B1	ORPHA:309282
HP:0031979	Abnormal urine carbohydrate level	4125	MAN2B1	ORPHA:309288
HP:0031979	Abnormal urine carbohydrate level	2548	GAA	ORPHA:308552
HP:0031979	Abnormal urine carbohydrate level	4952	OCRL	ORPHA:534
HP:0031979	Abnormal urine carbohydrate level	57231	SNX14	OMIM:616354
HP:0031979	Abnormal urine carbohydrate level	57231	SNX14	ORPHA:397709
HP:0031979	Abnormal urine carbohydrate level	9652	SKIC3	OMIM:222470
HP:0031979	Abnormal urine carbohydrate level	2582	GALE	OMIM:230350
HP:0031979	Abnormal urine carbohydrate level	4758	NEU1	ORPHA:812
HP:0031979	Abnormal urine carbohydrate level	4758	NEU1	OMIM:256550
HP:0031979	Abnormal urine carbohydrate level	4126	MANBA	OMIM:248510
HP:0031979	Abnormal urine carbohydrate level	23729	SHPK	OMIM:617213
HP:0031979	Abnormal urine carbohydrate level	51181	DCXR	ORPHA:2843
HP:0031979	Abnormal urine carbohydrate level	3795	KHK	ORPHA:2056
HP:0031979	Abnormal urine carbohydrate level	10165	SLC25A13	ORPHA:247598
HP:0031979	Abnormal urine carbohydrate level	2203	FBP1	OMIM:229700
HP:0031979	Abnormal urine carbohydrate level	2203	FBP1	ORPHA:348
HP:0031979	Abnormal urine carbohydrate level	2710	GK	OMIM:307030
HP:0031979	Abnormal urine carbohydrate level	22934	RPIA	OMIM:608611
HP:0031979	Abnormal urine carbohydrate level	2592	GALT	OMIM:230400
HP:0031979	Abnormal urine carbohydrate level	2584	GALK1	ORPHA:79237
HP:0031979	Abnormal urine carbohydrate level	3553	IL1B	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	4595	MUTYH	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3557	IL1RN	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3845	KRAS	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3845	KRAS	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	843	CASP10	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3659	IRF1	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	2064	ERBB2	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	5290	PIK3CA	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	1316	KLF6	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	324	APC	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	2263	FGFR2	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3875	KRT18	OMIM:215600
HP:0031979	Abnormal urine carbohydrate level	6794	STK11	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	7157	TP53	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	4089	SMAD4	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	7086	TKT	ORPHA:488618
HP:0031979	Abnormal urine carbohydrate level	2720	GLB1	ORPHA:79255
HP:0031980	Abnormal urine carboxylic acid level	79783	SUGCT	ORPHA:35706
HP:0031980	Abnormal urine carboxylic acid level	79783	SUGCT	OMIM:231690
HP:0031980	Abnormal urine carboxylic acid level	2639	GCDH	ORPHA:25
HP:0031980	Abnormal urine carboxylic acid level	2639	GCDH	OMIM:231670
HP:0031980	Abnormal urine carboxylic acid level	728294	D2HGDH	OMIM:600721
HP:0031980	Abnormal urine carboxylic acid level	3155	HMGCL	OMIM:246450
HP:0031980	Abnormal urine carboxylic acid level	2108	ETFA	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	2109	ETFB	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	2110	ETFDH	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	6898	TAT	OMIM:276600
HP:0031980	Abnormal urine carboxylic acid level	7019	TFAM	OMIM:617156
HP:0031980	Abnormal urine carboxylic acid level	37	ACADVL	OMIM:201475
HP:0031980	Abnormal urine carboxylic acid level	3033	HADH	OMIM:231530
HP:0031980	Abnormal urine carboxylic acid level	3033	HADH	ORPHA:71212
HP:0031980	Abnormal urine carboxylic acid level	1374	CPT1A	OMIM:255120
HP:0031980	Abnormal urine carboxylic acid level	55065	SLC52A1	OMIM:615026
HP:0031980	Abnormal urine carboxylic acid level	788	SLC25A20	OMIM:212138
HP:0031980	Abnormal urine carboxylic acid level	788	SLC25A20	ORPHA:159
HP:0031980	Abnormal urine carboxylic acid level	28976	ACAD9	OMIM:611126
HP:0031980	Abnormal urine carboxylic acid level	28976	ACAD9	ORPHA:99901
HP:0031980	Abnormal urine carboxylic acid level	5195	PEX14	OMIM:614887
HP:0031980	Abnormal urine carboxylic acid level	27034	ACAD8	ORPHA:79159
HP:0031980	Abnormal urine carboxylic acid level	6584	SLC22A5	OMIM:212140
HP:0031980	Abnormal urine carboxylic acid level	435	ASL	ORPHA:23
HP:0031980	Abnormal urine carboxylic acid level	435	ASL	OMIM:207900
HP:0031980	Abnormal urine carboxylic acid level	9056	SLC7A7	OMIM:222700
HP:0031980	Abnormal urine carboxylic acid level	9056	SLC7A7	ORPHA:470
HP:0031980	Abnormal urine carboxylic acid level	790	CAD	OMIM:616457
HP:0031980	Abnormal urine carboxylic acid level	7372	UMPS	OMIM:258900
HP:0031980	Abnormal urine carboxylic acid level	7372	UMPS	ORPHA:30
HP:0031980	Abnormal urine carboxylic acid level	5009	OTC	OMIM:311250
HP:0031980	Abnormal urine carboxylic acid level	383	ARG1	OMIM:207800
HP:0031980	Abnormal urine carboxylic acid level	445	ASS1	OMIM:215700
HP:0031980	Abnormal urine carboxylic acid level	498	ATP5F1A	OMIM:620358
HP:0031980	Abnormal urine carboxylic acid level	10166	SLC25A15	ORPHA:415
HP:0031980	Abnormal urine carboxylic acid level	23474	ETHE1	ORPHA:51188
HP:0031980	Abnormal urine carboxylic acid level	23474	ETHE1	OMIM:602473
HP:0031980	Abnormal urine carboxylic acid level	3329	HSPD1	OMIM:612233
HP:0031980	Abnormal urine carboxylic acid level	5428	POLG	OMIM:203700
HP:0031980	Abnormal urine carboxylic acid level	80207	OPA3	OMIM:258501
HP:0031980	Abnormal urine carboxylic acid level	131118	DNAJC19	OMIM:610198
HP:0031980	Abnormal urine carboxylic acid level	27429	HTRA2	OMIM:617248
HP:0031980	Abnormal urine carboxylic acid level	92609	TIMM50	OMIM:617698
HP:0031980	Abnormal urine carboxylic acid level	55768	NGLY1	OMIM:615273
HP:0031980	Abnormal urine carboxylic acid level	6389	SDHA	OMIM:619259
HP:0031980	Abnormal urine carboxylic acid level	513	ATP5F1D	OMIM:618120
HP:0031980	Abnormal urine carboxylic acid level	125988	MICOS13	OMIM:618329
HP:0031980	Abnormal urine carboxylic acid level	125988	MICOS13	ORPHA:67047
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:619835
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:619813
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	ORPHA:445038
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:616271
HP:0031980	Abnormal urine carboxylic acid level	549	AUH	OMIM:250950
HP:0031980	Abnormal urine carboxylic acid level	549	AUH	ORPHA:67046
HP:0031980	Abnormal urine carboxylic acid level	55750	AGK	OMIM:212350
HP:0031980	Abnormal urine carboxylic acid level	91647	ATPAF2	OMIM:604273
HP:0031980	Abnormal urine carboxylic acid level	55210	ATAD3A	ORPHA:496790
HP:0031980	Abnormal urine carboxylic acid level	112812	FDX2	OMIM:251900
HP:0031980	Abnormal urine carboxylic acid level	54968	TMEM70	OMIM:614052
HP:0031980	Abnormal urine carboxylic acid level	54968	TMEM70	ORPHA:1194
HP:0031980	Abnormal urine carboxylic acid level	514	ATP5F1E	OMIM:614053
HP:0031980	Abnormal urine carboxylic acid level	6901	TAFAZZIN	OMIM:302060
HP:0031980	Abnormal urine carboxylic acid level	84947	SERAC1	OMIM:614739
HP:0031980	Abnormal urine carboxylic acid level	4724	NDUFS4	OMIM:252010
HP:0031980	Abnormal urine carboxylic acid level	51241	COX16	OMIM:619355
HP:0031980	Abnormal urine carboxylic acid level	55687	TRMU	OMIM:613070
HP:0031980	Abnormal urine carboxylic acid level	1376	CPT2	OMIM:608836
HP:0031980	Abnormal urine carboxylic acid level	34	ACADM	OMIM:201450
HP:0031980	Abnormal urine carboxylic acid level	23095	KIF1B	OMIM:256700
HP:0031980	Abnormal urine carboxylic acid level	6571	SLC18A2	OMIM:618049
HP:0031980	Abnormal urine carboxylic acid level	5979	RET	OMIM:171400
HP:0031980	Abnormal urine carboxylic acid level	197322	ACSF3	OMIM:614265
HP:0031980	Abnormal urine carboxylic acid level	197322	ACSF3	ORPHA:289504
HP:0031980	Abnormal urine carboxylic acid level	119559	SFXN4	OMIM:615578
HP:0031980	Abnormal urine carboxylic acid level	25974	MMACHC	ORPHA:79282
HP:0031980	Abnormal urine carboxylic acid level	25974	MMACHC	OMIM:277400
HP:0031980	Abnormal urine carboxylic acid level	3054	HCFC1	OMIM:309541
HP:0031980	Abnormal urine carboxylic acid level	6948	TCN2	OMIM:275350
HP:0031980	Abnormal urine carboxylic acid level	6948	TCN2	ORPHA:859
HP:0031980	Abnormal urine carboxylic acid level	55788	LMBRD1	ORPHA:79284
HP:0031980	Abnormal urine carboxylic acid level	55788	LMBRD1	OMIM:277380
HP:0031980	Abnormal urine carboxylic acid level	27249	MMADHC	OMIM:277410
HP:0031980	Abnormal urine carboxylic acid level	4594	MMUT	OMIM:251000
HP:0031980	Abnormal urine carboxylic acid level	84693	MCEE	OMIM:251120
HP:0031980	Abnormal urine carboxylic acid level	4552	MTRR	OMIM:236270
HP:0031980	Abnormal urine carboxylic acid level	8802	SUCLG1	OMIM:245400
HP:0031980	Abnormal urine carboxylic acid level	8802	SUCLG1	ORPHA:17
HP:0031980	Abnormal urine carboxylic acid level	8803	SUCLA2	OMIM:612073
HP:0031980	Abnormal urine carboxylic acid level	8803	SUCLA2	ORPHA:1933
HP:0031980	Abnormal urine carboxylic acid level	51293	CD320	OMIM:613646
HP:0031980	Abnormal urine carboxylic acid level	5826	ABCD4	OMIM:614857
HP:0031980	Abnormal urine carboxylic acid level	4548	MTR	OMIM:250940
HP:0031980	Abnormal urine carboxylic acid level	326625	MMAB	OMIM:251110
HP:0031980	Abnormal urine carboxylic acid level	5052	PRDX1	OMIM:277400
HP:0031980	Abnormal urine carboxylic acid level	5498	PPOX	OMIM:176200
HP:0031980	Abnormal urine carboxylic acid level	5498	PPOX	ORPHA:79473
HP:0031980	Abnormal urine carboxylic acid level	3077	HFE	OMIM:176200
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	ORPHA:79273
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	OMIM:121300
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	OMIM:618892
HP:0031980	Abnormal urine carboxylic acid level	210	ALAD	ORPHA:100924
HP:0031980	Abnormal urine carboxylic acid level	3145	HMBS	ORPHA:79276
HP:0031980	Abnormal urine carboxylic acid level	7390	UROS	ORPHA:79277
HP:0031980	Abnormal urine carboxylic acid level	2623	GATA1	ORPHA:79277
HP:0031980	Abnormal urine carboxylic acid level	131669	UROC1	OMIM:276880
HP:0031980	Abnormal urine carboxylic acid level	131669	UROC1	ORPHA:210128
HP:0031980	Abnormal urine carboxylic acid level	3418	IDH2	OMIM:613657
HP:0031980	Abnormal urine carboxylic acid level	3417	IDH1	ORPHA:99646
HP:0031980	Abnormal urine carboxylic acid level	54914	FOCAD	OMIM:619991
HP:0031980	Abnormal urine carboxylic acid level	4716	NDUFB10	OMIM:619003
HP:0031980	Abnormal urine carboxylic acid level	7915	ALDH5A1	OMIM:271980
HP:0031980	Abnormal urine carboxylic acid level	4598	MVK	OMIM:260920
HP:0031980	Abnormal urine carboxylic acid level	4598	MVK	OMIM:610377
HP:0031980	Abnormal urine carboxylic acid level	2271	FH	OMIM:606812
HP:0031980	Abnormal urine carboxylic acid level	6341	SCO1	OMIM:619048
HP:0031980	Abnormal urine carboxylic acid level	6576	SLC25A1	OMIM:615182
HP:0031980	Abnormal urine carboxylic acid level	64849	SLC13A3	OMIM:618384
HP:0031980	Abnormal urine carboxylic acid level	763	CA5A	OMIM:615751
HP:0031980	Abnormal urine carboxylic acid level	23417	MLYCD	OMIM:248360
HP:0031980	Abnormal urine carboxylic acid level	36	ACADSB	OMIM:610006
HP:0031980	Abnormal urine carboxylic acid level	3141	HLCS	OMIM:253270
HP:0031980	Abnormal urine carboxylic acid level	56922	MCCC1	OMIM:210200
HP:0031980	Abnormal urine carboxylic acid level	3081	HGD	OMIM:203500
HP:0031980	Abnormal urine carboxylic acid level	3242	HPD	OMIM:140350
HP:0031980	Abnormal urine carboxylic acid level	5053	PAH	OMIM:261600
HP:0031980	Abnormal urine carboxylic acid level	55526	DHTKD1	OMIM:204750
HP:0031980	Abnormal urine carboxylic acid level	166785	MMAA	OMIM:251100
HP:0031980	Abnormal urine carboxylic acid level	10841	FTCD	OMIM:229100
HP:0031980	Abnormal urine carboxylic acid level	79944	L2HGDH	OMIM:236792
HP:0031980	Abnormal urine carboxylic acid level	4329	ALDH6A1	OMIM:614105
HP:0031980	Abnormal urine carboxylic acid level	5019	OXCT1	OMIM:245050
HP:0031980	Abnormal urine carboxylic acid level	1629	DBT	OMIM:248600
HP:0031980	Abnormal urine carboxylic acid level	593	BCKDHA	OMIM:248600
HP:0031980	Abnormal urine carboxylic acid level	594	BCKDHB	OMIM:248600
HP:0031980	Abnormal urine carboxylic acid level	5095	PCCA	OMIM:606054
HP:0031980	Abnormal urine carboxylic acid level	5096	PCCB	OMIM:606054
HP:0031980	Abnormal urine carboxylic acid level	35	ACADS	ORPHA:26792
HP:0031980	Abnormal urine carboxylic acid level	27247	NFU1	OMIM:605711
HP:0031980	Abnormal urine carboxylic acid level	3954	LETM1	OMIM:620089
HP:0031982	Abnormal putamen morphology	2639	GCDH	ORPHA:25
HP:0031982	Abnormal putamen morphology	23230	VPS13A	ORPHA:2388
HP:0031982	Abnormal putamen morphology	2512	FTL	ORPHA:157846
HP:0031982	Abnormal putamen morphology	5903	RANBP2	ORPHA:88619
HP:0031982	Abnormal putamen morphology	10381	TUBB3	OMIM:614039
HP:0031983	Abnormal pulmonary thoracic imaging finding	355	FAS	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	355	FAS	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	356	FASLG	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	5580	PRKCD	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	843	CASP10	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	10125	RASGRP1	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	330	BIRC3	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	10892	MALT1	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	27086	FOXP1	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	3492	IGH	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	8915	BCL10	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	5156	PDGFRA	OMIM:607685
HP:0031983	Abnormal pulmonary thoracic imaging finding	1493	CTLA4	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	26191	PTPN22	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3115	HLA-DPB1	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	5657	PRTN3	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3113	HLA-DPA1	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3043	HBB	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	53335	BCL11A	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	10661	KLF1	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	3047	HBG1	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	3048	HBG2	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	7317	UBA1	OMIM:301054
HP:0031983	Abnormal pulmonary thoracic imaging finding	2629	GBA1	OMIM:230800
HP:0031983	Abnormal pulmonary thoracic imaging finding	60468	BACH2	OMIM:618394
HP:0031983	Abnormal pulmonary thoracic imaging finding	3459	IFNGR1	OMIM:209950
HP:0031983	Abnormal pulmonary thoracic imaging finding	3459	IFNGR1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	7248	TSC1	ORPHA:538
HP:0031983	Abnormal pulmonary thoracic imaging finding	7249	TSC2	ORPHA:538
HP:0031983	Abnormal pulmonary thoracic imaging finding	9663	LPIN2	ORPHA:77297
HP:0031983	Abnormal pulmonary thoracic imaging finding	3123	HLA-DRB1	OMIM:181000
HP:0031983	Abnormal pulmonary thoracic imaging finding	3123	HLA-DRB1	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	348	APOE	ORPHA:158029
HP:0031983	Abnormal pulmonary thoracic imaging finding	56244	BTNL2	OMIM:612387
HP:0031983	Abnormal pulmonary thoracic imaging finding	5557	PRIM1	OMIM:620005
HP:0031983	Abnormal pulmonary thoracic imaging finding	6439	SFTPB	ORPHA:217563
HP:0031983	Abnormal pulmonary thoracic imaging finding	4615	MYD88	ORPHA:33226
HP:0031983	Abnormal pulmonary thoracic imaging finding	10568	SLC34A2	ORPHA:60025
HP:0031983	Abnormal pulmonary thoracic imaging finding	254428	SLC41A1	OMIM:619468
HP:0031983	Abnormal pulmonary thoracic imaging finding	1794	DOCK2	OMIM:616433
HP:0031983	Abnormal pulmonary thoracic imaging finding	1235	CCR6	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	1490	CCN2	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	3663	IRF5	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	857	CAV1	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	3559	IL2RA	OMIM:606367
HP:0031983	Abnormal pulmonary thoracic imaging finding	7080	NKX2-1	OMIM:610978
HP:0031983	Abnormal pulmonary thoracic imaging finding	5873	RAB27A	ORPHA:79477
HP:0031983	Abnormal pulmonary thoracic imaging finding	149233	IL23R	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	6775	STAT4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3586	IL10	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	4210	MEFV	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	1230	CCR1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3592	IL12A	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	101928376	IL12A-AS1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3106	HLA-B	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	7099	TLR4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	720	C4A	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	337867	UBAC2	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	51752	ERAP1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	8302	KLRC4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	6609	SMPD1	OMIM:607616
HP:0031983	Abnormal pulmonary thoracic imaging finding	6609	SMPD1	OMIM:257200
HP:0031983	Abnormal pulmonary thoracic imaging finding	1438	CSF2RA	OMIM:300770
HP:0031983	Abnormal pulmonary thoracic imaging finding	64135	IFIH1	OMIM:619773
HP:0031983	Abnormal pulmonary thoracic imaging finding	653509	SFTPA1	OMIM:619611
HP:0031983	Abnormal pulmonary thoracic imaging finding	653509	SFTPA1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	6440	SFTPC	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	6440	SFTPC	OMIM:610913
HP:0031983	Abnormal pulmonary thoracic imaging finding	729238	SFTPA2	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	79991	STN1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	21	ABCA3	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	21	ABCA3	OMIM:610921
HP:0031983	Abnormal pulmonary thoracic imaging finding	1832	DSP	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	727897	MUC5B	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	10144	FAM13A	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	23250	ATP11A	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	91039	DPP9	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	51750	RTEL1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	7012	TERC	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	5073	PARN	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	7015	TERT	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	1439	CSF2RB	OMIM:614370
HP:0031983	Abnormal pulmonary thoracic imaging finding	10551	AGR2	OMIM:620233
HP:0031983	Abnormal pulmonary thoracic imaging finding	659	BMPR2	OMIM:265450
HP:0031983	Abnormal pulmonary thoracic imaging finding	440275	EIF2AK4	OMIM:234810
HP:0031983	Abnormal pulmonary thoracic imaging finding	440275	EIF2AK4	ORPHA:199241
HP:0031983	Abnormal pulmonary thoracic imaging finding	1281	COL3A1	OMIM:130050
HP:0031983	Abnormal pulmonary thoracic imaging finding	6772	STAT1	OMIM:614162
HP:0031983	Abnormal pulmonary thoracic imaging finding	1536	CYBB	OMIM:306400
HP:0031983	Abnormal pulmonary thoracic imaging finding	567	B2M	OMIM:241600
HP:0031983	Abnormal pulmonary thoracic imaging finding	23095	KIF1B	OMIM:256700
HP:0031983	Abnormal pulmonary thoracic imaging finding	27019	DNAI1	OMIM:244400
HP:0031983	Abnormal pulmonary thoracic imaging finding	27019	DNAI1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	427	ASAH1	ORPHA:333
HP:0031983	Abnormal pulmonary thoracic imaging finding	126792	B3GALT6	ORPHA:536467
HP:0031983	Abnormal pulmonary thoracic imaging finding	92749	DRC1	OMIM:615294
HP:0031983	Abnormal pulmonary thoracic imaging finding	92749	DRC1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	6103	RPGR	OMIM:300455
HP:0031983	Abnormal pulmonary thoracic imaging finding	6103	RPGR	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54101	RIPK4	ORPHA:1401
HP:0031983	Abnormal pulmonary thoracic imaging finding	6774	STAT3	ORPHA:2314
HP:0031983	Abnormal pulmonary thoracic imaging finding	8425	LTBP4	OMIM:613177
HP:0031983	Abnormal pulmonary thoracic imaging finding	10309	CCNO	OMIM:615872
HP:0031983	Abnormal pulmonary thoracic imaging finding	10309	CCNO	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	2622	GAS8	OMIM:616726
HP:0031983	Abnormal pulmonary thoracic imaging finding	2622	GAS8	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	1312	COMT	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	221037	JMJD1C	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	2812	GP1BB	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6239	RREB1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6899	TBX1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6899	TBX1	OMIM:188400
HP:0031983	Abnormal pulmonary thoracic imaging finding	7290	HIRA	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	9632	SEC24C	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	7353	UFD1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	421	ARVCF	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	25981	DNAH1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	115948	ODAD3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54768	HYDIN	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	352909	DNAAF3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	27148	STK36	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	51314	NME8	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54970	TTC12	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	152110	NEK10	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	8481	OFD1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	2302	FOXJ1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	221421	RSPH9	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	85478	CCDC65	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	55036	CCDC40	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	51364	ZMYND10	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	64446	DNAI2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	6674	SPAG1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83544	DNAL1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	89765	RSPH1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83538	ODAD4	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	200373	CFAP221	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	374407	DNAJB13	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	55172	DNAAF2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	161582	DNAAF4	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	23639	DNAAF11	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	345895	RSPH4A	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54919	DNAAF5	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	388389	CCDC103	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	93233	ODAD1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	93233	ODAD1	OMIM:615067
HP:0031983	Abnormal pulmonary thoracic imaging finding	55130	ODAD2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	1767	DNAH5	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83861	RSPH3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	345643	MCIDAS	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	56683	CFAP298	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	79925	SPEF2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	115399	LRRC56	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	139212	DNAAF6	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	123872	DNAAF1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	85016	CFAP300	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	339829	CCDC39	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	8701	DNAH11	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	1770	DNAH9	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	246176	GAS2L2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	5339	PLEC	ORPHA:254361
HP:0031983	Abnormal pulmonary thoracic imaging finding	7852	CXCR4	ORPHA:51636
HP:0031983	Abnormal pulmonary thoracic imaging finding	374354	NHLRC2	OMIM:618278
HP:0031983	Abnormal pulmonary thoracic imaging finding	7161	TP73	OMIM:619466
HP:0031983	Abnormal pulmonary thoracic imaging finding	4952	OCRL	ORPHA:534
HP:0031983	Abnormal pulmonary thoracic imaging finding	3908	LAMA2	ORPHA:258
HP:0031983	Abnormal pulmonary thoracic imaging finding	5077	PAX3	ORPHA:896
HP:0010852	EEG with photoparoxysmal response	401474	SAMD12	OMIM:601068
HP:0010852	EEG with photoparoxysmal response	56910	STARD7	OMIM:607876
HP:0010852	EEG with photoparoxysmal response	23219	FBXO28	OMIM:619777
HP:0010852	EEG with photoparoxysmal response	2554	GABRA1	OMIM:615744
HP:0010852	EEG with photoparoxysmal response	55164	SHQ1	OMIM:619922
HP:0010852	EEG with photoparoxysmal response	10715	CERS1	OMIM:616230
HP:0010852	EEG with photoparoxysmal response	10299	MARCHF6	OMIM:613608
HP:0001334	Communicating hydrocephalus	27019	DNAI1	OMIM:244400
HP:0001334	Communicating hydrocephalus	2639	GCDH	ORPHA:25
HP:0001334	Communicating hydrocephalus	8925	HERC1	ORPHA:457359
HP:0001334	Communicating hydrocephalus	8925	HERC1	OMIM:617011
HP:0001334	Communicating hydrocephalus	5034	P4HB	OMIM:112240
HP:0001334	Communicating hydrocephalus	5034	P4HB	ORPHA:2050
HP:0001334	Communicating hydrocephalus	9871	SEC24D	ORPHA:2050
HP:0001334	Communicating hydrocephalus	51095	TRNT1	OMIM:616084
HP:0001334	Communicating hydrocephalus	55503	TRPV6	OMIM:618188
HP:0001334	Communicating hydrocephalus	8777	MPDZ	OMIM:615219
HP:0001334	Communicating hydrocephalus	131405	TRIM71	OMIM:618667
HP:0001334	Communicating hydrocephalus	6513	SLC2A1	ORPHA:168577
HP:0001334	Communicating hydrocephalus	4125	MAN2B1	ORPHA:309282
HP:0001334	Communicating hydrocephalus	9578	CDC42BPB	OMIM:619841
HP:0001334	Communicating hydrocephalus	11041	B4GAT1	OMIM:615287
HP:0001334	Communicating hydrocephalus	3070	HELLS	ORPHA:2268
HP:0001334	Communicating hydrocephalus	1789	DNMT3B	ORPHA:2268
HP:0001334	Communicating hydrocephalus	83879	CDCA7	ORPHA:2268
HP:0001334	Communicating hydrocephalus	9841	ZBTB24	ORPHA:2268
HP:0001334	Communicating hydrocephalus	5728	PTEN	ORPHA:2969
HP:0001334	Communicating hydrocephalus	2200	FBN1	ORPHA:2462
HP:0001334	Communicating hydrocephalus	6497	SKI	ORPHA:2462
HP:0001335	Bimanual synkinesia	3730	ANOS1	OMIM:308700
HP:0001335	Bimanual synkinesia	3730	ANOS1	ORPHA:478
HP:0001335	Bimanual synkinesia	5888	RAD51	ORPHA:238722
HP:0001335	Bimanual synkinesia	5888	RAD51	OMIM:614508
HP:0001335	Bimanual synkinesia	10126	DNAL4	ORPHA:238722
HP:0001335	Bimanual synkinesia	10126	DNAL4	OMIM:616059
HP:0001335	Bimanual synkinesia	9423	NTN1	ORPHA:238722
HP:0001335	Bimanual synkinesia	9423	NTN1	OMIM:618264
HP:0001335	Bimanual synkinesia	1630	DCC	ORPHA:238722
HP:0001335	Bimanual synkinesia	1630	DCC	OMIM:157600
HP:0001335	Bimanual synkinesia	1630	DCC	OMIM:617542
HP:0001335	Bimanual synkinesia	1630	DCC	ORPHA:478
HP:0001335	Bimanual synkinesia	392255	GDF6	OMIM:118100
HP:0001335	Bimanual synkinesia	128674	PROKR2	OMIM:244200
HP:0001335	Bimanual synkinesia	128674	PROKR2	ORPHA:478
HP:0001335	Bimanual synkinesia	22995	CEP152	OMIM:614852
HP:0001335	Bimanual synkinesia	2260	FGFR1	OMIM:147950
HP:0001335	Bimanual synkinesia	2260	FGFR1	ORPHA:478
HP:0001335	Bimanual synkinesia	10371	SEMA3A	OMIM:614897
HP:0001335	Bimanual synkinesia	10371	SEMA3A	ORPHA:478
HP:0001335	Bimanual synkinesia	374969	SVBP	OMIM:618569
HP:0001335	Bimanual synkinesia	57082	KNL1	OMIM:604321
HP:0001335	Bimanual synkinesia	9215	LARGE1	OMIM:608840
HP:0001335	Bimanual synkinesia	81848	SPRY4	ORPHA:478
HP:0001335	Bimanual synkinesia	23767	FLRT3	ORPHA:478
HP:0001335	Bimanual synkinesia	79625	NDNF	ORPHA:478
HP:0001335	Bimanual synkinesia	2253	FGF8	ORPHA:478
HP:0001335	Bimanual synkinesia	389549	FEZF1	ORPHA:478
HP:0001335	Bimanual synkinesia	54756	IL17RD	ORPHA:478
HP:0001335	Bimanual synkinesia	6663	SOX10	ORPHA:478
HP:0001335	Bimanual synkinesia	285025	CCDC141	ORPHA:478
HP:0001335	Bimanual synkinesia	60675	PROK2	ORPHA:478
HP:0001335	Bimanual synkinesia	60675	PROK2	OMIM:610628
HP:0001335	Bimanual synkinesia	55636	CHD7	ORPHA:478
HP:0001335	Bimanual synkinesia	1848	DUSP6	ORPHA:478
HP:0001335	Bimanual synkinesia	6870	TACR3	ORPHA:478
HP:0001335	Bimanual synkinesia	55717	WDR11	ORPHA:478
HP:0001335	Bimanual synkinesia	9394	HS6ST1	ORPHA:478
HP:0001335	Bimanual synkinesia	8820	HESX1	ORPHA:478
HP:0001335	Bimanual synkinesia	8822	FGF17	ORPHA:478
HP:0001335	Bimanual synkinesia	1000	CDH2	OMIM:618929
HP:0001335	Bimanual synkinesia	10430	TMEM147	OMIM:620075
HP:0011553	Discordant atrioventricular connection	100128908	CIROP	OMIM:619702
HP:0011554	Double inlet atrioventricular connection	5337	PLD1	OMIM:212093
HP:0011554	Double inlet atrioventricular connection	8550	MAPKAPK5	OMIM:619869
HP:0011554	Double inlet atrioventricular connection	4838	NODAL	OMIM:270100
HP:0011554	Double inlet atrioventricular connection	100128908	CIROP	OMIM:619702
HP:0011555	Double inlet left ventricle	5337	PLD1	OMIM:212093
HP:0011555	Double inlet left ventricle	8550	MAPKAPK5	OMIM:619869
HP:0011555	Double inlet left ventricle	4838	NODAL	OMIM:270100
HP:0011556	Double inlet right ventricle	100128908	CIROP	OMIM:619702
HP:0031986	Polyminimyoclonus	182	JAG1	OMIM:619574
HP:0031987	Diminished ability to concentrate	2077	ERF	OMIM:600775
HP:0031987	Diminished ability to concentrate	6907	TBL1X	OMIM:301033
HP:0031987	Diminished ability to concentrate	5428	POLG	OMIM:607459
HP:0031987	Diminished ability to concentrate	56652	TWNK	OMIM:607459
HP:0031987	Diminished ability to concentrate	11277	TREX1	OMIM:192315
HP:0031987	Diminished ability to concentrate	284361	EMC10	OMIM:619264
HP:0031987	Diminished ability to concentrate	6711	SPTBN1	OMIM:619475
HP:0031987	Diminished ability to concentrate	8924	HERC2	OMIM:615516
HP:0031987	Diminished ability to concentrate	81615	TMEM163	OMIM:620243
HP:0031987	Diminished ability to concentrate	54808	DYM	ORPHA:239
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411641
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219800
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219900
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411634
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411629
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219750
HP:0007957	Corneal opacity	5422	POLA1	OMIM:301220
HP:0007957	Corneal opacity	1294	COL7A1	OMIM:226600
HP:0007957	Corneal opacity	4312	MMP1	OMIM:226600
HP:0007957	Corneal opacity	7390	UROS	OMIM:263700
HP:0007957	Corneal opacity	54892	NCAPG2	OMIM:618460
HP:0007957	Corneal opacity	667	DST	OMIM:614653
HP:0007957	Corneal opacity	85446	ZFHX2	OMIM:147430
HP:0007957	Corneal opacity	1387	CREBBP	ORPHA:353277
HP:0007957	Corneal opacity	59335	PRDM12	OMIM:616488
HP:0007957	Corneal opacity	4358	MPV17	OMIM:256810
HP:0007957	Corneal opacity	2706	GJB2	OMIM:148210
HP:0007957	Corneal opacity	2033	EP300	ORPHA:353284
HP:0007957	Corneal opacity	4990	SIX6	OMIM:212550
HP:0007957	Corneal opacity	1308	COL17A1	ORPHA:293381
HP:0007957	Corneal opacity	11107	PRDM5	ORPHA:90354
HP:0007957	Corneal opacity	84627	ZNF469	ORPHA:90354
HP:0007957	Corneal opacity	80781	COL18A1	OMIM:267750
HP:0007957	Corneal opacity	8671	SLC4A4	OMIM:604278
HP:0007957	Corneal opacity	64127	NOD2	OMIM:186580
HP:0007957	Corneal opacity	6775	STAT4	ORPHA:85410
HP:0007957	Corneal opacity	3560	IL2RB	ORPHA:85410
HP:0007957	Corneal opacity	79722	ANKRD55	ORPHA:85410
HP:0007957	Corneal opacity	26191	PTPN22	ORPHA:85410
HP:0007957	Corneal opacity	919	CD247	ORPHA:85410
HP:0007957	Corneal opacity	3559	IL2RA	ORPHA:85410
HP:0007957	Corneal opacity	5771	PTPN2	ORPHA:85410
HP:0007957	Corneal opacity	182	JAG1	OMIM:118450
HP:0007957	Corneal opacity	2778	GNAS	ORPHA:79443
HP:0007957	Corneal opacity	6657	SOX2	ORPHA:77298
HP:0007957	Corneal opacity	6657	SOX2	OMIM:206900
HP:0007957	Corneal opacity	652	BMP4	ORPHA:139471
HP:0007957	Corneal opacity	652	BMP4	OMIM:607932
HP:0007957	Corneal opacity	29957	SLC25A24	ORPHA:2095
HP:0007957	Corneal opacity	30062	RAX	OMIM:611038
HP:0007957	Corneal opacity	10586	MAB21L2	OMIM:615877
HP:0007957	Corneal opacity	1063	CENPF	OMIM:243605
HP:0007957	Corneal opacity	3166	HMX1	OMIM:612109
HP:0007957	Corneal opacity	9896	FIG4	OMIM:216340
HP:0007957	Corneal opacity	9896	FIG4	ORPHA:3472
HP:0007957	Corneal opacity	84314	TMEM107	ORPHA:564
HP:0007957	Corneal opacity	26123	TCTN3	ORPHA:564
HP:0007957	Corneal opacity	79867	TCTN2	ORPHA:564
HP:0007957	Corneal opacity	80776	B9D2	ORPHA:564
HP:0007957	Corneal opacity	79600	TCTN1	ORPHA:564
HP:0007957	Corneal opacity	57096	RPGRIP1	ORPHA:564
HP:0007957	Corneal opacity	79848	CSPP1	ORPHA:564
HP:0007957	Corneal opacity	80184	CEP290	ORPHA:564
HP:0007957	Corneal opacity	51259	TMEM216	ORPHA:564
HP:0007957	Corneal opacity	57545	CC2D2A	ORPHA:564
HP:0007957	Corneal opacity	79583	TMEM231	ORPHA:564
HP:0007957	Corneal opacity	91147	TMEM67	ORPHA:564
HP:0007957	Corneal opacity	79770	TXNDC15	ORPHA:564
HP:0007957	Corneal opacity	27077	B9D1	ORPHA:564
HP:0007957	Corneal opacity	23322	RPGRIP1L	ORPHA:564
HP:0007957	Corneal opacity	54903	MKS1	ORPHA:564
HP:0007957	Corneal opacity	65062	TMEM237	ORPHA:564
HP:0007957	Corneal opacity	6899	TBX1	OMIM:188400
HP:0007957	Corneal opacity	55697	VAC14	ORPHA:3472
HP:0007957	Corneal opacity	10815	CPLX1	ORPHA:280
HP:0007957	Corneal opacity	54872	PIGG	ORPHA:280
HP:0007957	Corneal opacity	7469	NELFA	ORPHA:280
HP:0007957	Corneal opacity	1487	CTBP1	ORPHA:280
HP:0007957	Corneal opacity	3954	LETM1	ORPHA:280
HP:0007957	Corneal opacity	7468	NSD2	ORPHA:280
HP:0007957	Corneal opacity	91179	SCARF2	OMIM:600920
HP:0007957	Corneal opacity	55714	TENM3	OMIM:615145
HP:0007957	Corneal opacity	8550	MAPKAPK5	OMIM:619869
HP:0007957	Corneal opacity	1717	DHCR7	ORPHA:818
HP:0007957	Corneal opacity	55315	SLC29A3	OMIM:602782
HP:0007957	Corneal opacity	55315	SLC29A3	ORPHA:168569
HP:0007957	Corneal opacity	255738	PCSK9	OMIM:603776
HP:0007957	Corneal opacity	338	APOB	OMIM:144010
HP:0007957	Corneal opacity	336	APOA2	OMIM:143890
HP:0007957	Corneal opacity	2053	EPHX2	OMIM:143890
HP:0007957	Corneal opacity	10842	PPP1R17	OMIM:143890
HP:0007957	Corneal opacity	2690	GHR	OMIM:143890
HP:0007957	Corneal opacity	3949	LDLR	OMIM:143890
HP:0007957	Corneal opacity	3990	LIPC	OMIM:614025
HP:0007957	Corneal opacity	91851	CHRDL1	OMIM:309300
HP:0007957	Corneal opacity	348	APOE	ORPHA:412
HP:0007957	Corneal opacity	64241	ABCG8	OMIM:210250
HP:0007957	Corneal opacity	224	ALDH3A2	OMIM:270200
HP:0007957	Corneal opacity	5309	PITX3	OMIM:107250
HP:0007957	Corneal opacity	2074	ERCC6	OMIM:133540
HP:0007957	Corneal opacity	6309	SC5D	ORPHA:46059
HP:0007957	Corneal opacity	6309	SC5D	OMIM:607330
HP:0007957	Corneal opacity	59341	TRPV4	OMIM:184095
HP:0007957	Corneal opacity	2588	GALNS	OMIM:253000
HP:0007957	Corneal opacity	114548	NLRP3	OMIM:148200
HP:0007957	Corneal opacity	4166	CHST6	ORPHA:98969
HP:0007957	Corneal opacity	5308	PITX2	ORPHA:708
HP:0007957	Corneal opacity	2296	FOXC1	ORPHA:708
HP:0007957	Corneal opacity	84942	WDR73	OMIM:251300
HP:0007957	Corneal opacity	335	APOA1	ORPHA:425
HP:0007957	Corneal opacity	6720	SREBF1	OMIM:158310
HP:0007957	Corneal opacity	2312	FLG	ORPHA:461
HP:0007957	Corneal opacity	51715	RAB23	OMIM:201000
HP:0007957	Corneal opacity	100506658	OCLN	OMIM:251290
HP:0007957	Corneal opacity	326	AIRE	ORPHA:3453
HP:0007957	Corneal opacity	1161	ERCC8	OMIM:216400
HP:0007957	Corneal opacity	79158	GNPTAB	OMIM:252500
HP:0007957	Corneal opacity	79158	GNPTAB	OMIM:252600
HP:0007957	Corneal opacity	84572	GNPTG	OMIM:252605
HP:0007957	Corneal opacity	4668	NAGA	ORPHA:79280
HP:0007957	Corneal opacity	3977	LIFR	OMIM:601559
HP:0007957	Corneal opacity	338917	VSX2	OMIM:610093
HP:0007957	Corneal opacity	4914	NTRK1	OMIM:256800
HP:0007957	Corneal opacity	6399	TRAPPC2	OMIM:313400
HP:0007957	Corneal opacity	7490	WT1	OMIM:106210
HP:0007957	Corneal opacity	2068	ERCC2	ORPHA:910
HP:0007957	Corneal opacity	7507	XPA	ORPHA:910
HP:0007957	Corneal opacity	2071	ERCC3	ORPHA:910
HP:0007957	Corneal opacity	7508	XPC	ORPHA:910
HP:0007957	Corneal opacity	1643	DDB2	ORPHA:910
HP:0007957	Corneal opacity	2072	ERCC4	ORPHA:910
HP:0007957	Corneal opacity	2073	ERCC5	ORPHA:910
HP:0007957	Corneal opacity	285440	CYP4V2	ORPHA:41751
HP:0007957	Corneal opacity	29914	UBIAD1	OMIM:121800
HP:0007957	Corneal opacity	3859	KRT12	OMIM:122100
HP:0007957	Corneal opacity	5696	PSMB8	OMIM:256040
HP:0007957	Corneal opacity	8518	ELP1	ORPHA:1764
HP:0007957	Corneal opacity	23556	PIGN	ORPHA:2059
HP:0007957	Corneal opacity	5832	ALDH18A1	OMIM:616603
HP:0007957	Corneal opacity	5832	ALDH18A1	ORPHA:90348
HP:0007957	Corneal opacity	145173	B3GLCT	ORPHA:709
HP:0007957	Corneal opacity	4693	NDP	OMIM:310600
HP:0007957	Corneal opacity	4693	NDP	ORPHA:91495
HP:0007957	Corneal opacity	4693	NDP	ORPHA:649
HP:0007957	Corneal opacity	220202	ATOH7	ORPHA:91495
HP:0007957	Corneal opacity	220202	ATOH7	OMIM:221900
HP:0007957	Corneal opacity	8322	FZD4	ORPHA:91495
HP:0007957	Corneal opacity	80144	FRAS1	OMIM:219000
HP:0007957	Corneal opacity	126792	B3GALT6	OMIM:609465
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:93399
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:812
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:93400
HP:0007957	Corneal opacity	411	ARSB	OMIM:253200
HP:0007957	Corneal opacity	7045	TGFBI	ORPHA:98964
HP:0007957	Corneal opacity	7045	TGFBI	OMIM:608470
HP:0007957	Corneal opacity	55593	OTUD5	OMIM:301056
HP:0007957	Corneal opacity	4125	MAN2B1	ORPHA:309282
HP:0007957	Corneal opacity	4125	MAN2B1	ORPHA:309288
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:293603
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:1490
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:98974
HP:0007957	Corneal opacity	54101	RIPK4	ORPHA:1234
HP:0007957	Corneal opacity	6905	TBCE	ORPHA:2323
HP:0007957	Corneal opacity	10413	YAP1	ORPHA:1473
HP:0007957	Corneal opacity	5080	PAX6	ORPHA:137902
HP:0007957	Corneal opacity	5080	PAX6	OMIM:120200
HP:0007957	Corneal opacity	4952	OCRL	ORPHA:534
HP:0007957	Corneal opacity	29954	POMT2	OMIM:236670
HP:0007957	Corneal opacity	29954	POMT2	ORPHA:899
HP:0007957	Corneal opacity	9215	LARGE1	OMIM:236670
HP:0007957	Corneal opacity	9215	LARGE1	ORPHA:899
HP:0007957	Corneal opacity	79147	FKRP	OMIM:236670
HP:0007957	Corneal opacity	79147	FKRP	ORPHA:899
HP:0007957	Corneal opacity	79147	FKRP	OMIM:613153
HP:0007957	Corneal opacity	10585	POMT1	OMIM:236670
HP:0007957	Corneal opacity	10585	POMT1	ORPHA:899
HP:0007957	Corneal opacity	2218	FKTN	OMIM:236670
HP:0007957	Corneal opacity	2218	FKTN	ORPHA:899
HP:0007957	Corneal opacity	84892	POMGNT2	ORPHA:899
HP:0007957	Corneal opacity	148789	B3GALNT2	ORPHA:899
HP:0007957	Corneal opacity	1282	COL4A1	ORPHA:899
HP:0007957	Corneal opacity	1282	COL4A1	OMIM:175780
HP:0007957	Corneal opacity	729920	CRPPA	ORPHA:899
HP:0007957	Corneal opacity	10329	RXYLT1	ORPHA:899
HP:0007957	Corneal opacity	1605	DAG1	ORPHA:899
HP:0007957	Corneal opacity	11041	B4GAT1	ORPHA:899
HP:0007957	Corneal opacity	84197	POMK	ORPHA:899
HP:0007957	Corneal opacity	55624	POMGNT1	ORPHA:899
HP:0007957	Corneal opacity	427	ASAH1	ORPHA:333
HP:0007957	Corneal opacity	5980	REV3L	ORPHA:570
HP:0007957	Corneal opacity	23129	PLXND1	ORPHA:570
HP:0007957	Corneal opacity	51360	MBTPS2	ORPHA:2273
HP:0007957	Corneal opacity	10584	COLEC10	OMIM:248340
HP:0007957	Corneal opacity	1545	CYP1B1	OMIM:617315
HP:0007957	Corneal opacity	3423	IDS	ORPHA:217085
HP:0007957	Corneal opacity	3423	IDS	ORPHA:217093
HP:0007957	Corneal opacity	5155	PDGFB	ORPHA:1980
HP:0007957	Corneal opacity	9213	XPR1	ORPHA:1980
HP:0007957	Corneal opacity	5159	PDGFRB	ORPHA:1980
HP:0007957	Corneal opacity	5159	PDGFRB	OMIM:601812
HP:0007957	Corneal opacity	57462	MYORG	ORPHA:1980
HP:0007957	Corneal opacity	6575	SLC20A2	ORPHA:1980
HP:0007957	Corneal opacity	58494	JAM2	ORPHA:1980
HP:0007957	Corneal opacity	412	STS	ORPHA:281090
HP:0007957	Corneal opacity	27151	CPAMD8	OMIM:617319
HP:0007957	Corneal opacity	2260	FGFR1	ORPHA:2396
HP:0007957	Corneal opacity	3845	KRAS	ORPHA:2396
HP:0007957	Corneal opacity	3845	KRAS	OMIM:163200
HP:0007957	Corneal opacity	1147	CHUK	OMIM:619339
HP:0007957	Corneal opacity	2717	GLA	ORPHA:324
HP:0007957	Corneal opacity	4323	MMP14	OMIM:277950
HP:0007957	Corneal opacity	54539	NDUFB11	ORPHA:2556
HP:0007957	Corneal opacity	1349	COX7B	ORPHA:2556
HP:0007957	Corneal opacity	3052	HCCS	ORPHA:2556
HP:0007957	Corneal opacity	6768	ST14	OMIM:602400
HP:0007957	Corneal opacity	6898	TAT	ORPHA:28378
HP:0007957	Corneal opacity	9184	BUB3	ORPHA:1052
HP:0007957	Corneal opacity	699	BUB1	ORPHA:1052
HP:0007957	Corneal opacity	9702	CEP57	ORPHA:1052
HP:0007957	Corneal opacity	9319	TRIP13	ORPHA:1052
HP:0007957	Corneal opacity	701	BUB1B	ORPHA:1052
HP:0007957	Corneal opacity	4053	LTBP2	OMIM:613086
HP:0007957	Corneal opacity	2720	GLB1	OMIM:253010
HP:0007957	Corneal opacity	4041	LRP5	ORPHA:2788
HP:0007957	Corneal opacity	1301	COL11A1	ORPHA:90654
HP:0007957	Corneal opacity	93627	TBCK	ORPHA:488632
HP:0007957	Corneal opacity	2301	FOXE3	OMIM:610256
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607014
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607016
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607015
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93474
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93473
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93476
HP:0007957	Corneal opacity	2697	GJA1	ORPHA:317
HP:0007957	Corneal opacity	2707	GJB3	ORPHA:317
HP:0007957	Corneal opacity	2531	KDSR	ORPHA:317
HP:0007957	Corneal opacity	127534	GJB4	ORPHA:317
HP:0007957	Corneal opacity	9487	PIGL	ORPHA:3474
HP:0007957	Corneal opacity	11081	KERA	OMIM:217300
HP:0007957	Corneal opacity	5476	CTSA	ORPHA:351
HP:0007957	Corneal opacity	55768	NGLY1	OMIM:615273
HP:0007957	Corneal opacity	64840	PORCN	ORPHA:2092
HP:0007957	Corneal opacity	1296	COL8A2	OMIM:609140
HP:0007957	Corneal opacity	1296	COL8A2	ORPHA:98973
HP:0007957	Corneal opacity	1296	COL8A2	ORPHA:98974
HP:0007957	Corneal opacity	4519	MT-CYB	ORPHA:137675
HP:0007957	Corneal opacity	6804	STX1A	ORPHA:904
HP:0007957	Corneal opacity	7461	CLIP2	ORPHA:904
HP:0007957	Corneal opacity	84277	DNAJC30	ORPHA:904
HP:0007957	Corneal opacity	8468	FKBP6	ORPHA:904
HP:0007957	Corneal opacity	5982	RFC2	ORPHA:904
HP:0007957	Corneal opacity	2969	GTF2I	ORPHA:904
HP:0007957	Corneal opacity	3984	LIMK1	ORPHA:904
HP:0007957	Corneal opacity	9569	GTF2IRD1	ORPHA:904
HP:0007957	Corneal opacity	155382	VPS37D	ORPHA:904
HP:0007957	Corneal opacity	155368	METTL27	ORPHA:904
HP:0007957	Corneal opacity	114049	BUD23	ORPHA:904
HP:0007957	Corneal opacity	7458	EIF4H	ORPHA:904
HP:0007957	Corneal opacity	84163	GTF2IRD2	ORPHA:904
HP:0007957	Corneal opacity	9275	BCL7B	ORPHA:904
HP:0007957	Corneal opacity	26608	TBL2	ORPHA:904
HP:0007957	Corneal opacity	653361	NCF1	ORPHA:904
HP:0007957	Corneal opacity	135886	TMEM270	ORPHA:904
HP:0007957	Corneal opacity	51085	MLXIPL	ORPHA:904
HP:0007957	Corneal opacity	9031	BAZ1B	ORPHA:904
HP:0007957	Corneal opacity	2006	ELN	ORPHA:904
HP:0007957	Corneal opacity	2006	ELN	ORPHA:90348
HP:0007957	Corneal opacity	4893	NRAS	OMIM:163200
HP:0007957	Corneal opacity	3265	HRAS	OMIM:163200
HP:0007957	Corneal opacity	1859	DYRK1A	ORPHA:464311
HP:0007957	Corneal opacity	2517	FUCA1	ORPHA:349
HP:0007957	Corneal opacity	285362	SUMF1	OMIM:272200
HP:0007957	Corneal opacity	285362	SUMF1	ORPHA:585
HP:0007957	Corneal opacity	8517	IKBKG	ORPHA:464
HP:0007957	Corneal opacity	2990	GUSB	ORPHA:584
HP:0007957	Corneal opacity	2990	GUSB	OMIM:253220
HP:0007957	Corneal opacity	4000	LMNA	ORPHA:740
HP:0007957	Corneal opacity	10269	ZMPSTE24	ORPHA:740
HP:0007957	Corneal opacity	55210	ATAD3A	ORPHA:496790
HP:0007957	Corneal opacity	55210	ATAD3A	OMIM:617183
HP:0007957	Corneal opacity	162514	TRPV3	OMIM:614594
HP:0007957	Corneal opacity	5130	PCYT1A	ORPHA:85167
HP:0007957	Corneal opacity	50485	SMARCAL1	ORPHA:1830
HP:0007957	Corneal opacity	6925	TCF4	OMIM:613267
HP:0007957	Corneal opacity	6925	TCF4	ORPHA:98974
HP:0007957	Corneal opacity	3931	LCAT	ORPHA:79292
HP:0007957	Corneal opacity	57192	MCOLN1	ORPHA:578
HP:0007957	Corneal opacity	57192	MCOLN1	OMIM:252650
HP:0007957	Corneal opacity	11128	POLR3A	ORPHA:3455
HP:0007957	Corneal opacity	19	ABCA1	ORPHA:31150
HP:0007957	Corneal opacity	7837	PXDN	OMIM:269400
HP:0007957	Corneal opacity	5295	PIK3R1	ORPHA:3163
HP:0007957	Corneal opacity	5331	PLCB3	OMIM:618961
HP:0007957	Corneal opacity	55612	FERMT1	ORPHA:2908
HP:0007957	Corneal opacity	2629	GBA1	ORPHA:2072
HP:0007957	Corneal opacity	10516	FBLN5	ORPHA:90348
HP:0007957	Corneal opacity	4094	MAF	OMIM:610202
HP:0007957	Corneal opacity	4094	MAF	ORPHA:1377
HP:0007957	Corneal opacity	9939	RBM8A	OMIM:274000
HP:0007957	Corneal opacity	4313	MMP2	OMIM:259600
HP:0007957	Corneal opacity	117581	TWIST2	ORPHA:920
HP:0007957	Corneal opacity	157570	ESCO2	OMIM:268300
HP:0007957	Corneal opacity	2317	FLNB	OMIM:150250
HP:0007957	Corneal opacity	3832	KIF11	OMIM:152950
HP:0007957	Corneal opacity	58495	OVOL2	OMIM:122000
HP:0007957	Corneal opacity	58495	OVOL2	ORPHA:98973
HP:0007957	Corneal opacity	2703	GJA8	ORPHA:1377
HP:0007957	Corneal opacity	1413	CRYBA4	ORPHA:1377
HP:0007957	Corneal opacity	1409	CRYAA	ORPHA:1377
HP:0007957	Corneal opacity	1415	CRYBB2	ORPHA:1377
HP:0007957	Corneal opacity	1414	CRYBB1	ORPHA:1377
HP:0007957	Corneal opacity	1420	CRYGC	ORPHA:1377
HP:0007957	Corneal opacity	1421	CRYGD	ORPHA:1377
HP:0007957	Corneal opacity	9935	MAFB	OMIM:166300
HP:0007957	Corneal opacity	55670	PEX26	ORPHA:912
HP:0007957	Corneal opacity	5824	PEX19	ORPHA:912
HP:0007957	Corneal opacity	5828	PEX2	ORPHA:912
HP:0007957	Corneal opacity	8504	PEX3	ORPHA:912
HP:0007957	Corneal opacity	8799	PEX11B	ORPHA:912
HP:0007957	Corneal opacity	9409	PEX16	ORPHA:912
HP:0007957	Corneal opacity	5190	PEX6	ORPHA:912
HP:0007957	Corneal opacity	5830	PEX5	ORPHA:912
HP:0007957	Corneal opacity	5189	PEX1	ORPHA:912
HP:0007957	Corneal opacity	5193	PEX12	ORPHA:912
HP:0007957	Corneal opacity	5194	PEX13	ORPHA:912
HP:0007957	Corneal opacity	5195	PEX14	ORPHA:912
HP:0007957	Corneal opacity	5192	PEX10	ORPHA:912
HP:0007957	Corneal opacity	3852	KRT5	ORPHA:79396
HP:0007957	Corneal opacity	3861	KRT14	ORPHA:79396
HP:0007957	Corneal opacity	6935	ZEB1	ORPHA:98973
HP:0007957	Corneal opacity	6935	ZEB1	ORPHA:98974
HP:0007957	Corneal opacity	30813	VSX1	ORPHA:98973
HP:0007957	Corneal opacity	79977	GRHL2	ORPHA:98973
HP:0007957	Corneal opacity	54808	DYM	ORPHA:239
HP:0007957	Corneal opacity	123624	AGBL1	ORPHA:98974
HP:0007957	Corneal opacity	540	ATP7B	ORPHA:905
HP:0007957	Corneal opacity	540	ATP7B	OMIM:277900
HP:0000238	Hydrocephalus	1718	DHCR24	OMIM:602398
HP:0000238	Hydrocephalus	1718	DHCR24	ORPHA:35107
HP:0000238	Hydrocephalus	29899	GPSM2	OMIM:604213
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:272
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:588
HP:0000238	Hydrocephalus	2218	FKTN	OMIM:236670
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:899
HP:0000238	Hydrocephalus	2218	FKTN	OMIM:253800
HP:0000238	Hydrocephalus	4524	MTHFR	ORPHA:395
HP:0000238	Hydrocephalus	51256	TBC1D7	OMIM:248000
HP:0000238	Hydrocephalus	8294	H4C9	OMIM:619951
HP:0000238	Hydrocephalus	6873	TAF2	OMIM:615599
HP:0000238	Hydrocephalus	6873	TAF2	ORPHA:397951
HP:0000238	Hydrocephalus	4897	NRCAM	OMIM:619833
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:53271
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:1860
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:616482
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:15
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:93274
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:93262
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:100800
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:187600
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:612247
HP:0000238	Hydrocephalus	2737	GLI3	ORPHA:380
HP:0000238	Hydrocephalus	2737	GLI3	OMIM:175700
HP:0000238	Hydrocephalus	1630	DCC	OMIM:617542
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:220497
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:564
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:1454
HP:0000238	Hydrocephalus	4867	NPHP1	ORPHA:220497
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:220497
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:475
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:564
HP:0000238	Hydrocephalus	65062	TMEM237	OMIM:614424
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:2318
HP:0000238	Hydrocephalus	23426	GRIP1	OMIM:617667
HP:0000238	Hydrocephalus	2670	GFAP	OMIM:203450
HP:0000238	Hydrocephalus	2670	GFAP	ORPHA:363717
HP:0000238	Hydrocephalus	54806	AHI1	ORPHA:220493
HP:0000238	Hydrocephalus	54806	AHI1	ORPHA:475
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:220493
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:475
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:1454
HP:0000238	Hydrocephalus	153241	CEP120	ORPHA:220493
HP:0000238	Hydrocephalus	153241	CEP120	ORPHA:475
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:220493
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:475
HP:0000238	Hydrocephalus	54903	MKS1	OMIM:249000
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:564
HP:0000238	Hydrocephalus	95681	CEP41	ORPHA:220493
HP:0000238	Hydrocephalus	95681	CEP41	ORPHA:475
HP:0000238	Hydrocephalus	5728	PTEN	ORPHA:2969
HP:0000238	Hydrocephalus	5728	PTEN	ORPHA:65285
HP:0000238	Hydrocephalus	84197	POMK	OMIM:615249
HP:0000238	Hydrocephalus	84197	POMK	ORPHA:899
HP:0000238	Hydrocephalus	84197	POMK	ORPHA:370959
HP:0000238	Hydrocephalus	55650	PIGV	OMIM:239300
HP:0000238	Hydrocephalus	65082	VPS33A	ORPHA:505248
HP:0000238	Hydrocephalus	284058	KANSL1	ORPHA:363958
HP:0000238	Hydrocephalus	284058	KANSL1	ORPHA:363965
HP:0000238	Hydrocephalus	4853	NOTCH2	OMIM:102500
HP:0000238	Hydrocephalus	4853	NOTCH2	ORPHA:955
HP:0000238	Hydrocephalus	9968	MED12	ORPHA:93932
HP:0000238	Hydrocephalus	9968	MED12	OMIM:305450
HP:0000238	Hydrocephalus	9326	ZNHIT3	ORPHA:2836
HP:0000238	Hydrocephalus	547	KIF1A	ORPHA:2836
HP:0000238	Hydrocephalus	3339	HSPG2	ORPHA:1865
HP:0000238	Hydrocephalus	9401	RECQL4	OMIM:218600
HP:0000238	Hydrocephalus	4763	NF1	ORPHA:363700
HP:0000238	Hydrocephalus	4763	NF1	OMIM:162200
HP:0000238	Hydrocephalus	5528	PPP2R5D	OMIM:616355
HP:0000238	Hydrocephalus	8036	SHOC2	ORPHA:2701
HP:0000238	Hydrocephalus	5500	PPP1CB	ORPHA:2701
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93926
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93924
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93925
HP:0000238	Hydrocephalus	28514	DLL1	OMIM:618709
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:220386
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93926
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93924
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93925
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:220386
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93926
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93924
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93925
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:220386
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93926
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93924
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93925
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:220386
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93926
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93924
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93925
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:220386
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93926
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93924
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93925
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:220386
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93926
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93924
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93925
HP:0000238	Hydrocephalus	7546	ZIC2	OMIM:609637
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:220386
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93926
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93924
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93925
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:220386
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93926
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93924
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93925
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:220386
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93926
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93924
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93925
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:220386
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93926
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93924
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93925
HP:0000238	Hydrocephalus	2736	GLI2	OMIM:610829
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:220386
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93926
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93924
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93925
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:220386
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93926
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93924
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93925
HP:0000238	Hydrocephalus	5727	PTCH1	OMIM:610828
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:377
HP:0000238	Hydrocephalus	5727	PTCH1	OMIM:109400
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:77301
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:220386
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93926
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93924
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93925
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:220386
HP:0000238	Hydrocephalus	2260	FGFR1	ORPHA:93924
HP:0000238	Hydrocephalus	2260	FGFR1	OMIM:101600
HP:0000238	Hydrocephalus	2260	FGFR1	OMIM:613001
HP:0000238	Hydrocephalus	2260	FGFR1	ORPHA:220386
HP:0000238	Hydrocephalus	23007	PLCH1	ORPHA:93925
HP:0000238	Hydrocephalus	23007	PLCH1	OMIM:619895
HP:0000238	Hydrocephalus	10735	STAG2	ORPHA:93925
HP:0000238	Hydrocephalus	10735	STAG2	ORPHA:220386
HP:0000238	Hydrocephalus	3039	HBA1	ORPHA:163596
HP:0000238	Hydrocephalus	3040	HBA2	ORPHA:163596
HP:0000238	Hydrocephalus	63901	FAM111A	OMIM:602361
HP:0000238	Hydrocephalus	2316	FLNA	ORPHA:90652
HP:0000238	Hydrocephalus	2316	FLNA	OMIM:304120
HP:0000238	Hydrocephalus	1499	CTNNB1	ORPHA:54595
HP:0000238	Hydrocephalus	673	BRAF	ORPHA:54595
HP:0000238	Hydrocephalus	673	BRAF	OMIM:115150
HP:0000238	Hydrocephalus	673	BRAF	ORPHA:1340
HP:0000238	Hydrocephalus	79600	TCTN1	ORPHA:475
HP:0000238	Hydrocephalus	79600	TCTN1	ORPHA:564
HP:0000238	Hydrocephalus	79848	CSPP1	ORPHA:475
HP:0000238	Hydrocephalus	79848	CSPP1	ORPHA:564
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:475
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:377
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:2495
HP:0000238	Hydrocephalus	65250	CPLANE1	ORPHA:475
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:475
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:564
HP:0000238	Hydrocephalus	91147	TMEM67	OMIM:607361
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:1454
HP:0000238	Hydrocephalus	200894	ARL13B	ORPHA:475
HP:0000238	Hydrocephalus	9731	CEP104	ORPHA:475
HP:0000238	Hydrocephalus	219844	HYLS1	ORPHA:475
HP:0000238	Hydrocephalus	219844	HYLS1	ORPHA:2189
HP:0000238	Hydrocephalus	23247	KATNIP	ORPHA:475
HP:0000238	Hydrocephalus	219854	TMEM218	ORPHA:475
HP:0000238	Hydrocephalus	9786	KIAA0586	ORPHA:475
HP:0000238	Hydrocephalus	9786	KIAA0586	OMIM:616546
HP:0000238	Hydrocephalus	79867	TCTN2	ORPHA:475
HP:0000238	Hydrocephalus	79867	TCTN2	ORPHA:564
HP:0000238	Hydrocephalus	80776	B9D2	ORPHA:475
HP:0000238	Hydrocephalus	80776	B9D2	ORPHA:564
HP:0000238	Hydrocephalus	10464	PIBF1	ORPHA:475
HP:0000238	Hydrocephalus	80210	ARMC9	ORPHA:475
HP:0000238	Hydrocephalus	23116	TOGARAM1	ORPHA:475
HP:0000238	Hydrocephalus	25776	CBY1	ORPHA:475
HP:0000238	Hydrocephalus	27077	B9D1	ORPHA:475
HP:0000238	Hydrocephalus	27077	B9D1	ORPHA:564
HP:0000238	Hydrocephalus	403	ARL3	ORPHA:475
HP:0000238	Hydrocephalus	3981	LIG4	ORPHA:235
HP:0000238	Hydrocephalus	54888	NSUN2	ORPHA:235
HP:0000238	Hydrocephalus	5518	PPP2R1A	OMIM:616362
HP:0000238	Hydrocephalus	5518	PPP2R1A	ORPHA:457284
HP:0000238	Hydrocephalus	7157	TP53	ORPHA:2807
HP:0000238	Hydrocephalus	7157	TP53	OMIM:260500
HP:0000238	Hydrocephalus	5034	P4HB	OMIM:112240
HP:0000238	Hydrocephalus	55621	TRMT1	OMIM:618302
HP:0000238	Hydrocephalus	1182	CLCN3	OMIM:619512
HP:0000238	Hydrocephalus	1349	COX7B	OMIM:309801
HP:0000238	Hydrocephalus	1349	COX7B	ORPHA:2556
HP:0000238	Hydrocephalus	3052	HCCS	OMIM:309801
HP:0000238	Hydrocephalus	3052	HCCS	ORPHA:2556
HP:0000238	Hydrocephalus	54539	NDUFB11	OMIM:309801
HP:0000238	Hydrocephalus	54539	NDUFB11	ORPHA:2556
HP:0000238	Hydrocephalus	55699	IARS2	OMIM:616007
HP:0000238	Hydrocephalus	148789	B3GALNT2	ORPHA:588
HP:0000238	Hydrocephalus	148789	B3GALNT2	OMIM:615181
HP:0000238	Hydrocephalus	148789	B3GALNT2	ORPHA:899
HP:0000238	Hydrocephalus	29925	GMPPB	ORPHA:588
HP:0000238	Hydrocephalus	29925	GMPPB	ORPHA:370959
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:588
HP:0000238	Hydrocephalus	79147	FKRP	OMIM:236670
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:899
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:370959
HP:0000238	Hydrocephalus	79147	FKRP	OMIM:613153
HP:0000238	Hydrocephalus	9215	LARGE1	ORPHA:588
HP:0000238	Hydrocephalus	9215	LARGE1	OMIM:236670
HP:0000238	Hydrocephalus	9215	LARGE1	ORPHA:899
HP:0000238	Hydrocephalus	9215	LARGE1	OMIM:613154
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:588
HP:0000238	Hydrocephalus	29954	POMT2	OMIM:236670
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:899
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:370959
HP:0000238	Hydrocephalus	29954	POMT2	OMIM:613150
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:588
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:899
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:370959
HP:0000238	Hydrocephalus	55624	POMGNT1	OMIM:253280
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:588
HP:0000238	Hydrocephalus	10585	POMT1	OMIM:236670
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:899
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:370959
HP:0000238	Hydrocephalus	10585	POMT1	OMIM:613155
HP:0000238	Hydrocephalus	285362	SUMF1	OMIM:272200
HP:0000238	Hydrocephalus	285362	SUMF1	ORPHA:585
HP:0000238	Hydrocephalus	2187	FANCB	OMIM:314390
HP:0000238	Hydrocephalus	2187	FANCB	OMIM:300514
HP:0000238	Hydrocephalus	2187	FANCB	ORPHA:84
HP:0000238	Hydrocephalus	2187	FANCB	ORPHA:3412
HP:0000238	Hydrocephalus	7547	ZIC3	OMIM:314390
HP:0000238	Hydrocephalus	7547	ZIC3	OMIM:306955
HP:0000238	Hydrocephalus	30813	VSX1	OMIM:614195
HP:0000238	Hydrocephalus	11041	B4GAT1	OMIM:615287
HP:0000238	Hydrocephalus	11041	B4GAT1	ORPHA:899
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:123790
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:101200
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:123500
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:207
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:101600
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:87
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:93259
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:207410
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:1555
HP:0000238	Hydrocephalus	2683	B4GALT1	ORPHA:79332
HP:0000238	Hydrocephalus	2683	B4GALT1	OMIM:607091
HP:0000238	Hydrocephalus	8643	PTCH2	ORPHA:377
HP:0000238	Hydrocephalus	54941	RNF125	OMIM:616260
HP:0000238	Hydrocephalus	55120	FANCL	OMIM:614083
HP:0000238	Hydrocephalus	55120	FANCL	ORPHA:84
HP:0000238	Hydrocephalus	79989	IFT56	OMIM:619534
HP:0000238	Hydrocephalus	3423	IDS	OMIM:309900
HP:0000238	Hydrocephalus	284111	SLC13A5	ORPHA:1946
HP:0000238	Hydrocephalus	79641	ROGDI	ORPHA:1946
HP:0000238	Hydrocephalus	286204	CRB2	OMIM:219730
HP:0000238	Hydrocephalus	25981	DNAH1	ORPHA:244
HP:0000238	Hydrocephalus	115948	ODAD3	ORPHA:244
HP:0000238	Hydrocephalus	54768	HYDIN	ORPHA:244
HP:0000238	Hydrocephalus	352909	DNAAF3	ORPHA:244
HP:0000238	Hydrocephalus	27148	STK36	ORPHA:244
HP:0000238	Hydrocephalus	51314	NME8	ORPHA:244
HP:0000238	Hydrocephalus	92749	DRC1	ORPHA:244
HP:0000238	Hydrocephalus	54970	TTC12	ORPHA:244
HP:0000238	Hydrocephalus	152110	NEK10	ORPHA:244
HP:0000238	Hydrocephalus	8481	OFD1	ORPHA:244
HP:0000238	Hydrocephalus	8481	OFD1	OMIM:311200
HP:0000238	Hydrocephalus	2302	FOXJ1	ORPHA:244
HP:0000238	Hydrocephalus	221421	RSPH9	ORPHA:244
HP:0000238	Hydrocephalus	85478	CCDC65	ORPHA:244
HP:0000238	Hydrocephalus	55036	CCDC40	ORPHA:244
HP:0000238	Hydrocephalus	51364	ZMYND10	ORPHA:244
HP:0000238	Hydrocephalus	64446	DNAI2	ORPHA:244
HP:0000238	Hydrocephalus	6674	SPAG1	ORPHA:244
HP:0000238	Hydrocephalus	83544	DNAL1	ORPHA:244
HP:0000238	Hydrocephalus	89765	RSPH1	ORPHA:244
HP:0000238	Hydrocephalus	83538	ODAD4	ORPHA:244
HP:0000238	Hydrocephalus	200373	CFAP221	ORPHA:244
HP:0000238	Hydrocephalus	374407	DNAJB13	ORPHA:244
HP:0000238	Hydrocephalus	55172	DNAAF2	ORPHA:244
HP:0000238	Hydrocephalus	161582	DNAAF4	ORPHA:244
HP:0000238	Hydrocephalus	2622	GAS8	ORPHA:244
HP:0000238	Hydrocephalus	23639	DNAAF11	ORPHA:244
HP:0000238	Hydrocephalus	27019	DNAI1	ORPHA:244
HP:0000238	Hydrocephalus	345895	RSPH4A	ORPHA:244
HP:0000238	Hydrocephalus	54919	DNAAF5	ORPHA:244
HP:0000238	Hydrocephalus	6103	RPGR	ORPHA:244
HP:0000238	Hydrocephalus	388389	CCDC103	ORPHA:244
HP:0000238	Hydrocephalus	93233	ODAD1	ORPHA:244
HP:0000238	Hydrocephalus	55130	ODAD2	ORPHA:244
HP:0000238	Hydrocephalus	1767	DNAH5	ORPHA:244
HP:0000238	Hydrocephalus	83861	RSPH3	ORPHA:244
HP:0000238	Hydrocephalus	345643	MCIDAS	ORPHA:244
HP:0000238	Hydrocephalus	56683	CFAP298	ORPHA:244
HP:0000238	Hydrocephalus	79925	SPEF2	ORPHA:244
HP:0000238	Hydrocephalus	10309	CCNO	ORPHA:244
HP:0000238	Hydrocephalus	115399	LRRC56	ORPHA:244
HP:0000238	Hydrocephalus	139212	DNAAF6	ORPHA:244
HP:0000238	Hydrocephalus	123872	DNAAF1	ORPHA:244
HP:0000238	Hydrocephalus	85016	CFAP300	ORPHA:244
HP:0000238	Hydrocephalus	339829	CCDC39	ORPHA:244
HP:0000238	Hydrocephalus	8701	DNAH11	ORPHA:244
HP:0000238	Hydrocephalus	1770	DNAH9	ORPHA:244
HP:0000238	Hydrocephalus	246176	GAS2L2	ORPHA:244
HP:0000238	Hydrocephalus	81839	VANGL1	OMIM:600145
HP:0000238	Hydrocephalus	81839	VANGL1	OMIM:182940
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:304100
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:307000
HP:0000238	Hydrocephalus	3897	L1CAM	ORPHA:2182
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:303350
HP:0000238	Hydrocephalus	51645	PPIL1	OMIM:619301
HP:0000238	Hydrocephalus	51362	CDC40	OMIM:619302
HP:0000238	Hydrocephalus	5881	RAC3	OMIM:618577
HP:0000238	Hydrocephalus	5888	RAD51	OMIM:617244
HP:0000238	Hydrocephalus	5888	RAD51	ORPHA:84
HP:0000238	Hydrocephalus	7046	TGFBR1	OMIM:609192
HP:0000238	Hydrocephalus	8905	AP1S2	OMIM:304340
HP:0000238	Hydrocephalus	8905	AP1S2	ORPHA:85335
HP:0000238	Hydrocephalus	1801	DPH1	ORPHA:459061
HP:0000238	Hydrocephalus	3912	LAMB1	OMIM:615191
HP:0000238	Hydrocephalus	3912	LAMB1	ORPHA:352682
HP:0000238	Hydrocephalus	51422	PRKAG2	OMIM:261740
HP:0000238	Hydrocephalus	51259	TMEM216	OMIM:608091
HP:0000238	Hydrocephalus	51259	TMEM216	ORPHA:564
HP:0000238	Hydrocephalus	51259	TMEM216	ORPHA:2318
HP:0000238	Hydrocephalus	57216	VANGL2	OMIM:182940
HP:0000238	Hydrocephalus	6347	CCL2	OMIM:182940
HP:0000238	Hydrocephalus	6862	TBXT	OMIM:182940
HP:0000238	Hydrocephalus	80199	FUZ	OMIM:182940
HP:0000238	Hydrocephalus	80199	FUZ	ORPHA:1136
HP:0000238	Hydrocephalus	10312	TCIRG1	ORPHA:667
HP:0000238	Hydrocephalus	10312	TCIRG1	OMIM:259700
HP:0000238	Hydrocephalus	1186	CLCN7	ORPHA:667
HP:0000238	Hydrocephalus	1186	CLCN7	ORPHA:53
HP:0000238	Hydrocephalus	29887	SNX10	ORPHA:667
HP:0000238	Hydrocephalus	8600	TNFSF11	ORPHA:667
HP:0000238	Hydrocephalus	8600	TNFSF11	OMIM:259710
HP:0000238	Hydrocephalus	128869	PIGU	OMIM:618590
HP:0000238	Hydrocephalus	4967	OGDH	ORPHA:31
HP:0000238	Hydrocephalus	6299	SALL1	OMIM:107480
HP:0000238	Hydrocephalus	1193	CLIC2	OMIM:300886
HP:0000238	Hydrocephalus	1436	CSF1R	OMIM:618476
HP:0000238	Hydrocephalus	9871	SEC24D	OMIM:616294
HP:0000238	Hydrocephalus	79868	ALG13	OMIM:300884
HP:0000238	Hydrocephalus	8882	ZPR1	OMIM:619321
HP:0000238	Hydrocephalus	7248	TSC1	ORPHA:538
HP:0000238	Hydrocephalus	7249	TSC2	ORPHA:538
HP:0000238	Hydrocephalus	84892	POMGNT2	ORPHA:899
HP:0000238	Hydrocephalus	84892	POMGNT2	OMIM:614830
HP:0000238	Hydrocephalus	1282	COL4A1	ORPHA:899
HP:0000238	Hydrocephalus	1282	COL4A1	OMIM:175780
HP:0000238	Hydrocephalus	729920	CRPPA	ORPHA:899
HP:0000238	Hydrocephalus	729920	CRPPA	OMIM:614643
HP:0000238	Hydrocephalus	10329	RXYLT1	ORPHA:899
HP:0000238	Hydrocephalus	1605	DAG1	ORPHA:899
HP:0000238	Hydrocephalus	1605	DAG1	OMIM:616538
HP:0000238	Hydrocephalus	79068	FTO	OMIM:612938
HP:0000238	Hydrocephalus	56975	FAM20C	OMIM:259775
HP:0000238	Hydrocephalus	4784	NFIX	OMIM:602535
HP:0000238	Hydrocephalus	57551	TAOK1	OMIM:619575
HP:0000238	Hydrocephalus	340665	CYP26C1	ORPHA:398189
HP:0000238	Hydrocephalus	5831	PYCR1	OMIM:612940
HP:0000238	Hydrocephalus	2077	ERF	ORPHA:207
HP:0000238	Hydrocephalus	1312	COMT	ORPHA:567
HP:0000238	Hydrocephalus	221037	JMJD1C	ORPHA:567
HP:0000238	Hydrocephalus	2812	GP1BB	ORPHA:567
HP:0000238	Hydrocephalus	6239	RREB1	ORPHA:567
HP:0000238	Hydrocephalus	6899	TBX1	ORPHA:567
HP:0000238	Hydrocephalus	7290	HIRA	ORPHA:567
HP:0000238	Hydrocephalus	9632	SEC24C	ORPHA:567
HP:0000238	Hydrocephalus	7353	UFD1	ORPHA:567
HP:0000238	Hydrocephalus	421	ARVCF	ORPHA:567
HP:0000238	Hydrocephalus	84314	TMEM107	ORPHA:564
HP:0000238	Hydrocephalus	26123	TCTN3	ORPHA:564
HP:0000238	Hydrocephalus	57096	RPGRIP1	ORPHA:564
HP:0000238	Hydrocephalus	80184	CEP290	ORPHA:564
HP:0000238	Hydrocephalus	80184	CEP290	OMIM:611134
HP:0000238	Hydrocephalus	80184	CEP290	ORPHA:2318
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:564
HP:0000238	Hydrocephalus	57545	CC2D2A	OMIM:619111
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:2318
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:1454
HP:0000238	Hydrocephalus	57545	CC2D2A	OMIM:612284
HP:0000238	Hydrocephalus	79583	TMEM231	ORPHA:564
HP:0000238	Hydrocephalus	79583	TMEM231	ORPHA:2318
HP:0000238	Hydrocephalus	79770	TXNDC15	ORPHA:564
HP:0000238	Hydrocephalus	23258	DENND5A	OMIM:617281
HP:0000238	Hydrocephalus	10013	HDAC6	OMIM:300863
HP:0000238	Hydrocephalus	10013	HDAC6	ORPHA:163966
HP:0000238	Hydrocephalus	2009	EML1	OMIM:600348
HP:0000238	Hydrocephalus	5573	PRKAR1A	OMIM:101800
HP:0000238	Hydrocephalus	84065	TMEM222	OMIM:619470
HP:0000238	Hydrocephalus	54809	SAMD9	OMIM:617053
HP:0000238	Hydrocephalus	145173	B3GLCT	OMIM:261540
HP:0000238	Hydrocephalus	145173	B3GLCT	ORPHA:709
HP:0000238	Hydrocephalus	6711	SPTBN1	OMIM:619475
HP:0000238	Hydrocephalus	6608	SMO	OMIM:241800
HP:0000238	Hydrocephalus	6608	SMO	ORPHA:2495
HP:0000238	Hydrocephalus	4157	MC1R	ORPHA:626
HP:0000238	Hydrocephalus	4893	NRAS	ORPHA:626
HP:0000238	Hydrocephalus	4893	NRAS	OMIM:249400
HP:0000238	Hydrocephalus	4534	MTM1	OMIM:310400
HP:0000238	Hydrocephalus	10682	EBP	OMIM:300960
HP:0000238	Hydrocephalus	10682	EBP	ORPHA:401973
HP:0000238	Hydrocephalus	5290	PIK3CA	OMIM:602501
HP:0000238	Hydrocephalus	5290	PIK3CA	ORPHA:60040
HP:0000238	Hydrocephalus	5290	PIK3CA	ORPHA:2495
HP:0000238	Hydrocephalus	55640	FLVCR2	OMIM:225790
HP:0000238	Hydrocephalus	3516	RBPJ	ORPHA:974
HP:0000238	Hydrocephalus	4851	NOTCH1	ORPHA:974
HP:0000238	Hydrocephalus	57514	ARHGAP31	ORPHA:974
HP:0000238	Hydrocephalus	57572	DOCK6	ORPHA:974
HP:0000238	Hydrocephalus	57572	DOCK6	OMIM:614219
HP:0000238	Hydrocephalus	285203	EOGT	ORPHA:974
HP:0000238	Hydrocephalus	54567	DLL4	ORPHA:974
HP:0000238	Hydrocephalus	23387	SIK3	OMIM:618162
HP:0000238	Hydrocephalus	2177	FANCD2	OMIM:227646
HP:0000238	Hydrocephalus	2177	FANCD2	ORPHA:84
HP:0000238	Hydrocephalus	26137	ZBTB20	ORPHA:3042
HP:0000238	Hydrocephalus	55898	UNC45A	OMIM:619377
HP:0000238	Hydrocephalus	2629	GBA1	ORPHA:2072
HP:0000238	Hydrocephalus	2629	GBA1	OMIM:231005
HP:0000238	Hydrocephalus	51360	MBTPS2	ORPHA:85284
HP:0000238	Hydrocephalus	1376	CPT2	ORPHA:228308
HP:0000238	Hydrocephalus	9897	WASHC5	ORPHA:7
HP:0000238	Hydrocephalus	9897	WASHC5	OMIM:220210
HP:0000238	Hydrocephalus	28952	CCDC22	ORPHA:7
HP:0000238	Hydrocephalus	6913	TBX15	OMIM:260660
HP:0000238	Hydrocephalus	1496	CTNNA2	OMIM:618174
HP:0000238	Hydrocephalus	55315	SLC29A3	ORPHA:168569
HP:0000238	Hydrocephalus	374654	KIF7	ORPHA:2189
HP:0000238	Hydrocephalus	374654	KIF7	OMIM:614120
HP:0000238	Hydrocephalus	10535	RNASEH2A	OMIM:610333
HP:0000238	Hydrocephalus	4771	NF2	ORPHA:637
HP:0000238	Hydrocephalus	4771	NF2	ORPHA:2495
HP:0000238	Hydrocephalus	8085	KMT2D	OMIM:147920
HP:0000238	Hydrocephalus	8085	KMT2D	ORPHA:2322
HP:0000238	Hydrocephalus	7403	KDM6A	OMIM:147920
HP:0000238	Hydrocephalus	7403	KDM6A	ORPHA:2322
HP:0000238	Hydrocephalus	10262	SF3B4	OMIM:154400
HP:0000238	Hydrocephalus	894	CCND2	ORPHA:83473
HP:0000238	Hydrocephalus	894	CCND2	OMIM:615938
HP:0000238	Hydrocephalus	5296	PIK3R2	ORPHA:83473
HP:0000238	Hydrocephalus	5296	PIK3R2	OMIM:603387
HP:0000238	Hydrocephalus	10000	AKT3	ORPHA:83473
HP:0000238	Hydrocephalus	10000	AKT3	OMIM:615937
HP:0000238	Hydrocephalus	10992	SF3B2	OMIM:164210
HP:0000238	Hydrocephalus	80144	FRAS1	OMIM:219000
HP:0000238	Hydrocephalus	5447	POR	ORPHA:95699
HP:0000238	Hydrocephalus	5447	POR	OMIM:207410
HP:0000238	Hydrocephalus	501	ALDH7A1	OMIM:266100
HP:0000238	Hydrocephalus	4552	MTRR	ORPHA:2169
HP:0000238	Hydrocephalus	22858	CILK1	OMIM:612651
HP:0000238	Hydrocephalus	6662	SOX9	OMIM:114290
HP:0000238	Hydrocephalus	29072	SETD2	OMIM:620157
HP:0000238	Hydrocephalus	29072	SETD2	OMIM:620155
HP:0000238	Hydrocephalus	26153	KIF26A	OMIM:620156
HP:0000238	Hydrocephalus	8792	TNFRSF11A	OMIM:612301
HP:0000238	Hydrocephalus	114034	TOE1	OMIM:614969
HP:0000238	Hydrocephalus	672	BRCA1	ORPHA:84
HP:0000238	Hydrocephalus	10459	MAD2L2	ORPHA:84
HP:0000238	Hydrocephalus	7516	XRCC2	ORPHA:84
HP:0000238	Hydrocephalus	29089	UBE2T	ORPHA:84
HP:0000238	Hydrocephalus	675	BRCA2	ORPHA:84
HP:0000238	Hydrocephalus	2175	FANCA	ORPHA:84
HP:0000238	Hydrocephalus	2176	FANCC	ORPHA:84
HP:0000238	Hydrocephalus	2178	FANCE	ORPHA:84
HP:0000238	Hydrocephalus	2188	FANCF	ORPHA:84
HP:0000238	Hydrocephalus	2189	FANCG	ORPHA:84
HP:0000238	Hydrocephalus	5889	RAD51C	ORPHA:84
HP:0000238	Hydrocephalus	55159	RFWD3	ORPHA:84
HP:0000238	Hydrocephalus	83990	BRIP1	ORPHA:84
HP:0000238	Hydrocephalus	57697	FANCM	ORPHA:84
HP:0000238	Hydrocephalus	79728	PALB2	ORPHA:84
HP:0000238	Hydrocephalus	84464	SLX4	ORPHA:84
HP:0000238	Hydrocephalus	2072	ERCC4	ORPHA:84
HP:0000238	Hydrocephalus	2072	ERCC4	ORPHA:220295
HP:0000238	Hydrocephalus	55215	FANCI	ORPHA:84
HP:0000238	Hydrocephalus	5340	PLG	ORPHA:722
HP:0000238	Hydrocephalus	5340	PLG	OMIM:217090
HP:0000238	Hydrocephalus	1717	DHCR7	OMIM:270400
HP:0000238	Hydrocephalus	9896	FIG4	ORPHA:3472
HP:0000238	Hydrocephalus	55697	VAC14	ORPHA:3472
HP:0000238	Hydrocephalus	3425	IDUA	OMIM:607014
HP:0000238	Hydrocephalus	3425	IDUA	ORPHA:93473
HP:0000238	Hydrocephalus	53834	FGFRL1	OMIM:194190
HP:0000238	Hydrocephalus	1487	CTBP1	OMIM:194190
HP:0000238	Hydrocephalus	3954	LETM1	OMIM:194190
HP:0000238	Hydrocephalus	7468	NSD2	OMIM:194190
HP:0000238	Hydrocephalus	10815	CPLX1	OMIM:194190
HP:0000238	Hydrocephalus	3265	HRAS	OMIM:218040
HP:0000238	Hydrocephalus	2200	FBN1	OMIM:616914
HP:0000238	Hydrocephalus	3192	HNRNPU	ORPHA:238769
HP:0000238	Hydrocephalus	4593	MUSK	OMIM:208150
HP:0000238	Hydrocephalus	5063	PAK3	OMIM:300558
HP:0000238	Hydrocephalus	64327	LMBR1	ORPHA:2378
HP:0000238	Hydrocephalus	4519	MT-CYB	ORPHA:137675
HP:0000238	Hydrocephalus	8314	BAP1	ORPHA:2495
HP:0000238	Hydrocephalus	6598	SMARCB1	ORPHA:2495
HP:0000238	Hydrocephalus	6598	SMARCB1	ORPHA:99966
HP:0000238	Hydrocephalus	5155	PDGFB	ORPHA:2495
HP:0000238	Hydrocephalus	84231	TRAF7	ORPHA:2495
HP:0000238	Hydrocephalus	207	AKT1	ORPHA:2495
HP:0000238	Hydrocephalus	7015	TERT	ORPHA:2495
HP:0000238	Hydrocephalus	6605	SMARCE1	ORPHA:2495
HP:0000238	Hydrocephalus	11128	POLR3A	OMIM:264090
HP:0000238	Hydrocephalus	11128	POLR3A	ORPHA:3455
HP:0000238	Hydrocephalus	4094	MAF	ORPHA:1272
HP:0000238	Hydrocephalus	2050	EPHB4	ORPHA:137667
HP:0000238	Hydrocephalus	5921	RASA1	ORPHA:137667
HP:0000238	Hydrocephalus	3662	IRF4	ORPHA:3452
HP:0000238	Hydrocephalus	440193	CCDC88C	OMIM:236600
HP:0000238	Hydrocephalus	7048	TGFBR2	OMIM:610168
HP:0000238	Hydrocephalus	5824	PEX19	OMIM:614886
HP:0000238	Hydrocephalus	701	BUB1B	OMIM:257300
HP:0000238	Hydrocephalus	2776	GNAQ	ORPHA:3205
HP:0000238	Hydrocephalus	28962	OSTM1	OMIM:259720
HP:0000238	Hydrocephalus	157570	ESCO2	OMIM:268300
HP:0000238	Hydrocephalus	2581	GALC	OMIM:245200
HP:0000238	Hydrocephalus	84667	HES7	OMIM:613686
HP:0000238	Hydrocephalus	51134	CEP83	OMIM:615862
HP:0000238	Hydrocephalus	2719	GPC3	OMIM:312870
HP:0000238	Hydrocephalus	2239	GPC4	OMIM:312870
HP:0000238	Hydrocephalus	63895	PIEZO2	ORPHA:2461
HP:0000238	Hydrocephalus	9927	MFN2	ORPHA:99947
HP:0000238	Hydrocephalus	579	NKX3-2	OMIM:613330
HP:0000238	Hydrocephalus	100151683	RNU4ATAC	OMIM:210710
HP:0000238	Hydrocephalus	26160	IFT172	OMIM:615630
HP:0000238	Hydrocephalus	7473	WNT3	ORPHA:3301
HP:0000238	Hydrocephalus	7473	WNT3	OMIM:273395
HP:0000238	Hydrocephalus	340419	RSPO2	ORPHA:3301
HP:0000238	Hydrocephalus	411	ARSB	OMIM:253200
HP:0000238	Hydrocephalus	4854	NOTCH3	OMIM:130720
HP:0000238	Hydrocephalus	84162	BLTP1	OMIM:617822
HP:0000238	Hydrocephalus	6657	SOX2	ORPHA:77298
HP:0000238	Hydrocephalus	5604	MAP2K1	ORPHA:1340
HP:0000238	Hydrocephalus	5605	MAP2K2	ORPHA:1340
HP:0000238	Hydrocephalus	3845	KRAS	ORPHA:1340
HP:0000238	Hydrocephalus	1063	CENPF	OMIM:243605
HP:0000238	Hydrocephalus	51524	TMEM138	ORPHA:2318
HP:0000238	Hydrocephalus	23090	ZNF423	ORPHA:2318
HP:0000238	Hydrocephalus	64093	SMOC1	ORPHA:1106
HP:0000238	Hydrocephalus	57511	COG6	OMIM:614576
HP:0000238	Hydrocephalus	124997	WDR81	OMIM:617967
HP:0000238	Hydrocephalus	80781	COL18A1	ORPHA:1571
HP:0000238	Hydrocephalus	5062	PAK2	ORPHA:1571
HP:0000238	Hydrocephalus	4758	NEU1	ORPHA:93400
HP:0000238	Hydrocephalus	64840	PORCN	OMIM:305600
HP:0000238	Hydrocephalus	7874	USP7	ORPHA:500055
HP:0000238	Hydrocephalus	9791	PTDSS1	ORPHA:2658
HP:0000238	Hydrocephalus	29957	SLC25A24	OMIM:612289
HP:0000238	Hydrocephalus	23040	MYT1L	OMIM:616521
HP:0000238	Hydrocephalus	7305	TYROBP	ORPHA:2770
HP:0000238	Hydrocephalus	54209	TREM2	ORPHA:2770
HP:0000238	Hydrocephalus	112752	IFT43	OMIM:617866
HP:0000238	Hydrocephalus	2068	ERCC2	ORPHA:220295
HP:0000238	Hydrocephalus	2073	ERCC5	ORPHA:220295
HP:0000238	Hydrocephalus	2071	ERCC3	ORPHA:220295
HP:0000238	Hydrocephalus	139285	AMER1	OMIM:300373
HP:0000238	Hydrocephalus	6497	SKI	OMIM:182212
HP:0000238	Hydrocephalus	126792	B3GALT6	ORPHA:536467
HP:0000238	Hydrocephalus	26503	SLC17A5	OMIM:269920
HP:0000238	Hydrocephalus	2990	GUSB	OMIM:253220
HP:0000238	Hydrocephalus	59341	TRPV4	ORPHA:2635
HP:0000238	Hydrocephalus	8243	SMC1A	ORPHA:220386
HP:0000238	Hydrocephalus	8777	MPDZ	OMIM:615219
HP:0000238	Hydrocephalus	25974	MMACHC	ORPHA:79282
HP:0000238	Hydrocephalus	25974	MMACHC	OMIM:277400
HP:0000238	Hydrocephalus	2639	GCDH	OMIM:231670
HP:0000238	Hydrocephalus	9469	CHST3	OMIM:245600
HP:0000238	Hydrocephalus	26229	B3GAT3	OMIM:245600
HP:0000238	Hydrocephalus	5052	PRDX1	OMIM:277400
HP:0000238	Hydrocephalus	8925	HERC1	ORPHA:457359
HP:0000238	Hydrocephalus	8925	HERC1	OMIM:617011
HP:0000238	Hydrocephalus	51095	TRNT1	OMIM:616084
HP:0000238	Hydrocephalus	55503	TRPV6	OMIM:618188
HP:0000238	Hydrocephalus	131405	TRIM71	OMIM:618667
HP:0000238	Hydrocephalus	6513	SLC2A1	ORPHA:168577
HP:0000238	Hydrocephalus	4125	MAN2B1	ORPHA:309282
HP:0000238	Hydrocephalus	9578	CDC42BPB	OMIM:619841
HP:0000238	Hydrocephalus	3070	HELLS	ORPHA:2268
HP:0000238	Hydrocephalus	1789	DNMT3B	ORPHA:2268
HP:0000238	Hydrocephalus	83879	CDCA7	ORPHA:2268
HP:0000238	Hydrocephalus	9841	ZBTB24	ORPHA:2268
HP:0000238	Hydrocephalus	2074	ERCC6	OMIM:133540
HP:0000238	Hydrocephalus	10381	TUBB3	ORPHA:300570
HP:0000238	Hydrocephalus	80217	CFAP43	OMIM:236690
HP:0000238	Hydrocephalus	1161	ERCC8	OMIM:216400
HP:0000238	Hydrocephalus	3458	IFNG	ORPHA:805
HP:0000238	Hydrocephalus	29998	BICRA	OMIM:619325
HP:0000238	Hydrocephalus	6599	SMARCC1	OMIM:620241
HP:0000238	Hydrocephalus	23030	KDM4B	OMIM:619320
HP:0001340	Enhancement of the C-reflex	401474	SAMD12	OMIM:601068
HP:0001340	Enhancement of the C-reflex	55689	YEATS2	OMIM:615127
HP:0001340	Enhancement of the C-reflex	56910	STARD7	OMIM:607876
HP:0001340	Enhancement of the C-reflex	10299	MARCHF6	OMIM:613608
HP:0001341	Olfactory lobe agenesis	3730	ANOS1	OMIM:308700
HP:0001341	Olfactory lobe agenesis	54903	MKS1	OMIM:249000
HP:0001341	Olfactory lobe agenesis	1908	EDN3	ORPHA:897
HP:0001341	Olfactory lobe agenesis	4286	MITF	ORPHA:897
HP:0001341	Olfactory lobe agenesis	1910	EDNRB	ORPHA:897
HP:0001341	Olfactory lobe agenesis	6663	SOX10	ORPHA:897
HP:0001341	Olfactory lobe agenesis	5277	PIGA	OMIM:300868
HP:0001343	Kernicterus	54658	UGT1A1	OMIM:218800
HP:0001343	Kernicterus	54658	UGT1A1	OMIM:237900
HP:0001343	Kernicterus	54658	UGT1A1	ORPHA:79234
HP:0001343	Kernicterus	6007	RHD	OMIM:619462
HP:0001345	Psychotic mentation	1137	CHRNA4	ORPHA:98784
HP:0001345	Psychotic mentation	1135	CHRNA2	ORPHA:98784
HP:0001345	Psychotic mentation	57010	CABP4	ORPHA:98784
HP:0001345	Psychotic mentation	1141	CHRNB2	ORPHA:98784
HP:0001345	Psychotic mentation	57582	KCNT1	ORPHA:98784
HP:0001345	Psychotic mentation	1392	CRH	ORPHA:98784
HP:0001345	Psychotic mentation	9681	DEPDC5	ORPHA:98784
HP:0001345	Psychotic mentation	2937	GSS	OMIM:266130
HP:0001345	Psychotic mentation	9049	AIP	OMIM:219090
HP:0001345	Psychotic mentation	9101	USP8	OMIM:219090
HP:0001345	Psychotic mentation	4558	MT-TF	ORPHA:550
HP:0001345	Psychotic mentation	4572	MT-TQ	ORPHA:550
HP:0001345	Psychotic mentation	4512	MT-CO1	ORPHA:550
HP:0001345	Psychotic mentation	4513	MT-CO2	ORPHA:550
HP:0001345	Psychotic mentation	4514	MT-CO3	ORPHA:550
HP:0001345	Psychotic mentation	4578	MT-TW	ORPHA:550
HP:0001345	Psychotic mentation	4540	MT-ND5	ORPHA:550
HP:0001345	Psychotic mentation	4541	MT-ND6	ORPHA:550
HP:0001345	Psychotic mentation	4535	MT-ND1	ORPHA:550
HP:0001345	Psychotic mentation	4538	MT-ND4	ORPHA:550
HP:0001345	Psychotic mentation	4567	MT-TL1	ORPHA:550
HP:0001345	Psychotic mentation	4574	MT-TS1	ORPHA:550
HP:0001345	Psychotic mentation	4575	MT-TS2	ORPHA:550
HP:0001345	Psychotic mentation	4564	MT-TH	ORPHA:550
HP:0001345	Psychotic mentation	9896	FIG4	ORPHA:208441
HP:0001345	Psychotic mentation	4524	MTHFR	ORPHA:395
HP:0001345	Psychotic mentation	23732	FRRS1L	ORPHA:725
HP:0001345	Psychotic mentation	2903	GRIN2A	ORPHA:725
HP:0001345	Psychotic mentation	8659	ALDH4A1	ORPHA:79101
HP:0001348	Brisk reflexes	158	ADSL	OMIM:103050
HP:0001348	Brisk reflexes	4728	NDUFS8	OMIM:618222
HP:0001348	Brisk reflexes	10466	COG5	ORPHA:263487
HP:0001348	Brisk reflexes	8367	H4C5	OMIM:619950
HP:0001348	Brisk reflexes	10785	WDR4	OMIM:618346
HP:0001348	Brisk reflexes	6683	SPAST	ORPHA:100985
HP:0001348	Brisk reflexes	4574	MT-TS1	OMIM:220110
HP:0001348	Brisk reflexes	4574	MT-TS1	ORPHA:663
HP:0001348	Brisk reflexes	4570	MT-TN	OMIM:220110
HP:0001348	Brisk reflexes	4570	MT-TN	ORPHA:663
HP:0001348	Brisk reflexes	6834	SURF1	OMIM:220110
HP:0001348	Brisk reflexes	5393	EXOSC9	OMIM:618065
HP:0001348	Brisk reflexes	23516	SLC39A14	OMIM:617013
HP:0001348	Brisk reflexes	57704	GBA2	ORPHA:352641
HP:0001348	Brisk reflexes	6418	SET	OMIM:618106
HP:0001348	Brisk reflexes	5832	ALDH18A1	OMIM:616603
HP:0001348	Brisk reflexes	5832	ALDH18A1	ORPHA:90348
HP:0001348	Brisk reflexes	6323	SCN1A	OMIM:619317
HP:0001348	Brisk reflexes	9256	TSPOAP1	ORPHA:101150
HP:0001348	Brisk reflexes	7054	TH	ORPHA:101150
HP:0001348	Brisk reflexes	5457	POU4F1	ORPHA:314647
HP:0001348	Brisk reflexes	23261	CAMTA1	ORPHA:314647
HP:0001348	Brisk reflexes	4568	MT-TL2	ORPHA:663
HP:0001348	Brisk reflexes	4567	MT-TL1	ORPHA:663
HP:0001348	Brisk reflexes	26580	BSCL2	ORPHA:363400
HP:0001348	Brisk reflexes	81790	RNF170	OMIM:619686
HP:0001348	Brisk reflexes	56997	COQ8A	ORPHA:139485
HP:0001348	Brisk reflexes	1352	COX10	OMIM:619046
HP:0001348	Brisk reflexes	10157	AASS	ORPHA:2203
HP:0001348	Brisk reflexes	3035	HARS1	ORPHA:488333
HP:0001348	Brisk reflexes	2067	ERCC1	OMIM:610758
HP:0001348	Brisk reflexes	84679	SLC9A7	OMIM:301024
HP:0001348	Brisk reflexes	284403	WDR62	OMIM:604317
HP:0001348	Brisk reflexes	4784	NFIX	OMIM:602535
HP:0001348	Brisk reflexes	65055	REEP1	ORPHA:101011
HP:0001348	Brisk reflexes	25929	GEMIN5	OMIM:619333
HP:0001348	Brisk reflexes	2660	MSTN	OMIM:614160
HP:0001348	Brisk reflexes	5119	CHMP1A	OMIM:614961
HP:0001348	Brisk reflexes	64834	ELOVL1	OMIM:618527
HP:0001348	Brisk reflexes	8622	PDE8B	OMIM:609161
HP:0001348	Brisk reflexes	54834	GDAP2	OMIM:618369
HP:0001348	Brisk reflexes	3778	KCNMA1	OMIM:609446
HP:0001348	Brisk reflexes	23400	ATP13A2	OMIM:606693
HP:0001348	Brisk reflexes	9377	COX5A	OMIM:619064
HP:0001348	Brisk reflexes	11315	PARK7	OMIM:606324
HP:0001348	Brisk reflexes	23203	PMPCA	ORPHA:1170
HP:0001348	Brisk reflexes	4697	NDUFA4	OMIM:619065
HP:0001348	Brisk reflexes	5277	PIGA	OMIM:300868
HP:0001348	Brisk reflexes	5277	PIGA	OMIM:301072
HP:0001348	Brisk reflexes	132158	GLYCTK	OMIM:220120
HP:0001348	Brisk reflexes	833	CARS1	OMIM:618891
HP:0001348	Brisk reflexes	246243	RNASEH1	OMIM:616479
HP:0001348	Brisk reflexes	54664	TMEM106B	OMIM:617964
HP:0001348	Brisk reflexes	8398	PLA2G6	OMIM:612953
HP:0001348	Brisk reflexes	9152	SLC6A5	OMIM:614618
HP:0001348	Brisk reflexes	113278	SLC52A3	OMIM:211530
HP:0001348	Brisk reflexes	1267	CNP	OMIM:619071
HP:0001348	Brisk reflexes	2911	GRM1	OMIM:617691
HP:0001348	Brisk reflexes	56006	SMG9	OMIM:619995
HP:0001348	Brisk reflexes	5063	PAK3	OMIM:300558
HP:0001348	Brisk reflexes	6711	SPTBN1	OMIM:619475
HP:0001348	Brisk reflexes	58494	JAM2	OMIM:618824
HP:0001348	Brisk reflexes	2643	GCH1	ORPHA:98808
HP:0001348	Brisk reflexes	4929	NR4A2	ORPHA:98808
HP:0001348	Brisk reflexes	3615	IMPDH2	ORPHA:98808
HP:0001348	Brisk reflexes	2517	FUCA1	OMIM:230000
HP:0001348	Brisk reflexes	57863	CADM3	OMIM:619519
HP:0001348	Brisk reflexes	91461	PKDCC	OMIM:618821
HP:0001348	Brisk reflexes	90624	LYRM7	OMIM:615838
HP:0001348	Brisk reflexes	166785	MMAA	OMIM:251100
HP:0001348	Brisk reflexes	23137	SMC5	OMIM:620185
HP:0001348	Brisk reflexes	1737	DLAT	OMIM:245348
HP:0001348	Brisk reflexes	2521	FUS	ORPHA:300605
HP:0001348	Brisk reflexes	80208	SPG11	ORPHA:300605
HP:0001348	Brisk reflexes	10280	SIGMAR1	ORPHA:300605
HP:0001348	Brisk reflexes	10558	SPTLC1	ORPHA:300605
HP:0001348	Brisk reflexes	57679	ALS2	ORPHA:300605
HP:0001348	Brisk reflexes	1615	DARS1	OMIM:615281
HP:0001348	Brisk reflexes	51124	IER3IP1	OMIM:614231
HP:0001348	Brisk reflexes	9474	ATG5	OMIM:617584
HP:0001348	Brisk reflexes	9409	PEX16	OMIM:614877
HP:0001348	Brisk reflexes	10531	PITRM1	OMIM:619405
HP:0001348	Brisk reflexes	6509	SLC1A4	OMIM:616657
HP:0001348	Brisk reflexes	54676	GTPBP2	OMIM:617988
HP:0001348	Brisk reflexes	84919	PPP1R15B	OMIM:616817
HP:0001348	Brisk reflexes	84919	PPP1R15B	ORPHA:391408
HP:0001348	Brisk reflexes	7443	VRK1	OMIM:607596
HP:0001348	Brisk reflexes	93587	TRMT10A	ORPHA:391408
HP:0001348	Brisk reflexes	2799	GNS	OMIM:252940
HP:0001348	Brisk reflexes	55129	ANO10	ORPHA:284289
HP:0001348	Brisk reflexes	6904	TBCD	OMIM:617193
HP:0001348	Brisk reflexes	57479	PRR12	OMIM:619539
HP:0001348	Brisk reflexes	2733	GLE1	OMIM:611890
HP:0001348	Brisk reflexes	2006	ELN	ORPHA:90348
HP:0001348	Brisk reflexes	10516	FBLN5	ORPHA:90348
HP:0001348	Brisk reflexes	7415	VCP	OMIM:613954
HP:0001348	Brisk reflexes	5824	PEX19	OMIM:614886
HP:0001348	Brisk reflexes	85021	REPS1	OMIM:617916
HP:0001348	Brisk reflexes	3954	LETM1	OMIM:620089
HP:0001348	Brisk reflexes	6567	SLC16A2	ORPHA:59
HP:0001348	Brisk reflexes	2512	FTL	ORPHA:157846
HP:0001348	Brisk reflexes	64432	MRPS25	OMIM:619025
HP:0001348	Brisk reflexes	587	BCAT2	OMIM:618850
HP:0001348	Brisk reflexes	51645	PPIL1	OMIM:619301
HP:0001348	Brisk reflexes	51362	CDC40	OMIM:619302
HP:0001348	Brisk reflexes	84274	COQ5	OMIM:619028
HP:0001348	Brisk reflexes	10844	TUBGCP2	OMIM:618737
HP:0011563	Abnormal ventriculoarterial connection	22827	PUF60	ORPHA:508498
HP:0011563	Abnormal ventriculoarterial connection	2294	FOXF1	OMIM:265380
HP:0011563	Abnormal ventriculoarterial connection	2294	FOXF1	ORPHA:210122
HP:0011563	Abnormal ventriculoarterial connection	10262	SF3B4	OMIM:154400
HP:0011563	Abnormal ventriculoarterial connection	123606	NIPA1	ORPHA:261183
HP:0011563	Abnormal ventriculoarterial connection	7283	TUBG1	ORPHA:261183
HP:0011563	Abnormal ventriculoarterial connection	81614	NIPA2	ORPHA:261183
HP:0011563	Abnormal ventriculoarterial connection	1024	CDK8	OMIM:618748
HP:0011563	Abnormal ventriculoarterial connection	100151683	RNU4ATAC	OMIM:210710
HP:0011563	Abnormal ventriculoarterial connection	23556	PIGN	ORPHA:2059
HP:0011563	Abnormal ventriculoarterial connection	5885	RAD21	OMIM:614701
HP:0011563	Abnormal ventriculoarterial connection	7355	SLC35A2	ORPHA:356961
HP:0011563	Abnormal ventriculoarterial connection	22800	RRAS2	OMIM:618624
HP:0011563	Abnormal ventriculoarterial connection	79813	EHMT1	ORPHA:96147
HP:0011563	Abnormal ventriculoarterial connection	10992	SF3B2	OMIM:164210
HP:0011563	Abnormal ventriculoarterial connection	1131	CHRM3	ORPHA:2970
HP:0011563	Abnormal ventriculoarterial connection	64220	STRA6	OMIM:601186
HP:0011563	Abnormal ventriculoarterial connection	23414	ZFPM2	ORPHA:3303
HP:0011563	Abnormal ventriculoarterial connection	23414	ZFPM2	OMIM:187500
HP:0011563	Abnormal ventriculoarterial connection	3791	KDR	ORPHA:3303
HP:0011563	Abnormal ventriculoarterial connection	182	JAG1	ORPHA:3303
HP:0011563	Abnormal ventriculoarterial connection	182	JAG1	OMIM:118450
HP:0011563	Abnormal ventriculoarterial connection	182	JAG1	OMIM:187500
HP:0011563	Abnormal ventriculoarterial connection	182	JAG1	OMIM:617992
HP:0011563	Abnormal ventriculoarterial connection	2324	FLT4	ORPHA:3303
HP:0011563	Abnormal ventriculoarterial connection	2324	FLT4	OMIM:618780
HP:0011563	Abnormal ventriculoarterial connection	10370	CITED2	ORPHA:3303
HP:0011563	Abnormal ventriculoarterial connection	6299	SALL1	OMIM:107480
HP:0011563	Abnormal ventriculoarterial connection	6299	SALL1	ORPHA:857
HP:0011563	Abnormal ventriculoarterial connection	8443	GNPAT	OMIM:222765
HP:0011563	Abnormal ventriculoarterial connection	1349	COX7B	OMIM:300887
HP:0011563	Abnormal ventriculoarterial connection	26275	HIBCH	ORPHA:88639
HP:0011563	Abnormal ventriculoarterial connection	26275	HIBCH	OMIM:250620
HP:0011563	Abnormal ventriculoarterial connection	29998	BICRA	OMIM:619325
HP:0011563	Abnormal ventriculoarterial connection	83479	DDX59	OMIM:174300
HP:0011563	Abnormal ventriculoarterial connection	83479	DDX59	ORPHA:2919
HP:0011563	Abnormal ventriculoarterial connection	10847	SRCAP	ORPHA:2044
HP:0011563	Abnormal ventriculoarterial connection	23384	SPECC1L	ORPHA:1519
HP:0011563	Abnormal ventriculoarterial connection	9723	SEMA3E	ORPHA:138
HP:0011563	Abnormal ventriculoarterial connection	2260	FGFR1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	28514	DLL1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	2253	FGF8	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	6496	SIX3	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	7050	TGIF1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	6469	SHH	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	51684	SUFU	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	7546	ZIC2	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	2619	GAS1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	84976	DISP1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	2736	GLI2	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	8928	FOXH1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	5727	PTCH1	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	50937	CDON	ORPHA:280200
HP:0011563	Abnormal ventriculoarterial connection	57492	ARID1B	OMIM:135900
HP:0011563	Abnormal ventriculoarterial connection	57492	ARID1B	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6597	SMARCA4	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6598	SMARCB1	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6659	SOX4	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	8289	ARID1A	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	5977	DPF2	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6601	SMARCC2	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6602	SMARCD1	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	196528	ARID2	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6605	SMARCE1	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	6664	SOX11	ORPHA:1465
HP:0011563	Abnormal ventriculoarterial connection	1147	CHUK	OMIM:613630
HP:0011563	Abnormal ventriculoarterial connection	1108	CHD4	OMIM:617159
HP:0011563	Abnormal ventriculoarterial connection	7026	NR2F2	OMIM:615779
HP:0011563	Abnormal ventriculoarterial connection	64359	NXN	ORPHA:1507
HP:0011563	Abnormal ventriculoarterial connection	4920	ROR2	ORPHA:1507
HP:0011563	Abnormal ventriculoarterial connection	672	BRCA1	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	10459	MAD2L2	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	7516	XRCC2	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	29089	UBE2T	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	675	BRCA2	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	55120	FANCL	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2177	FANCD2	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2175	FANCA	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2176	FANCC	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2178	FANCE	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2188	FANCF	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2189	FANCG	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	5888	RAD51	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	5889	RAD51C	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	55159	RFWD3	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	83990	BRIP1	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	57697	FANCM	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	79728	PALB2	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	84464	SLX4	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	2072	ERCC4	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	55215	FANCI	ORPHA:84
HP:0011563	Abnormal ventriculoarterial connection	1312	COMT	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	221037	JMJD1C	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	2812	GP1BB	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	6239	RREB1	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	7290	HIRA	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	9632	SEC24C	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	7353	UFD1	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	421	ARVCF	ORPHA:567
HP:0011563	Abnormal ventriculoarterial connection	9839	ZEB2	ORPHA:261552
HP:0011563	Abnormal ventriculoarterial connection	9839	ZEB2	ORPHA:261537
HP:0011563	Abnormal ventriculoarterial connection	9896	FIG4	ORPHA:3472
HP:0011563	Abnormal ventriculoarterial connection	9896	FIG4	OMIM:216340
HP:0011563	Abnormal ventriculoarterial connection	55697	VAC14	ORPHA:3472
HP:0011563	Abnormal ventriculoarterial connection	7852	CXCR4	ORPHA:51636
HP:0011563	Abnormal ventriculoarterial connection	8550	MAPKAPK5	OMIM:619869
HP:0011563	Abnormal ventriculoarterial connection	57167	SALL4	ORPHA:959
HP:0011563	Abnormal ventriculoarterial connection	57167	SALL4	OMIM:147750
HP:0011563	Abnormal ventriculoarterial connection	8241	RBM10	OMIM:311900
HP:0011563	Abnormal ventriculoarterial connection	8241	RBM10	ORPHA:2886
HP:0011563	Abnormal ventriculoarterial connection	23118	TAB2	OMIM:614980
HP:0011563	Abnormal ventriculoarterial connection	8092	ALX1	ORPHA:306542
HP:0011563	Abnormal ventriculoarterial connection	6135	RPL11	OMIM:612562
HP:0011563	Abnormal ventriculoarterial connection	6125	RPL5	OMIM:612561
HP:0011563	Abnormal ventriculoarterial connection	57514	ARHGAP31	OMIM:100300
HP:0011563	Abnormal ventriculoarterial connection	57514	ARHGAP31	ORPHA:974
HP:0011563	Abnormal ventriculoarterial connection	6804	STX1A	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	7461	CLIP2	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	84277	DNAJC30	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	8468	FKBP6	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	5982	RFC2	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	2969	GTF2I	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	3984	LIMK1	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	9569	GTF2IRD1	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	155382	VPS37D	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	155368	METTL27	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	114049	BUD23	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	7458	EIF4H	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	84163	GTF2IRD2	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	9275	BCL7B	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	26608	TBL2	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	653361	NCF1	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	135886	TMEM270	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	51085	MLXIPL	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	9031	BAZ1B	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	2006	ELN	ORPHA:904
HP:0011563	Abnormal ventriculoarterial connection	5590	PRKCZ	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	2563	GABRD	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	23013	SPEN	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	8510	MMP23B	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	7798	LUZP1	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	6497	SKI	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	10630	PDPN	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	3339	HSPG2	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	10277	UBE4B	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	8514	KCNAB2	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	473	RERE	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	63976	PRDM16	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	54897	CASZ1	ORPHA:1606
HP:0011563	Abnormal ventriculoarterial connection	3579	CXCR2	OMIM:619407
HP:0011563	Abnormal ventriculoarterial connection	2542	SLC37A4	OMIM:619525
HP:0011563	Abnormal ventriculoarterial connection	9993	DGCR2	OMIM:192430
HP:0011563	Abnormal ventriculoarterial connection	8220	ESS2	OMIM:192430
HP:0011563	Abnormal ventriculoarterial connection	8214	DGCR6	OMIM:192430
HP:0011563	Abnormal ventriculoarterial connection	54487	DGCR8	OMIM:192430
HP:0011563	Abnormal ventriculoarterial connection	51339	DACT1	ORPHA:857
HP:0011563	Abnormal ventriculoarterial connection	673	BRAF	OMIM:613707
HP:0011563	Abnormal ventriculoarterial connection	3516	RBPJ	ORPHA:974
HP:0011563	Abnormal ventriculoarterial connection	57572	DOCK6	ORPHA:974
HP:0011563	Abnormal ventriculoarterial connection	285203	EOGT	ORPHA:974
HP:0011563	Abnormal ventriculoarterial connection	54567	DLL4	ORPHA:974
HP:0011563	Abnormal ventriculoarterial connection	745	MYRF	OMIM:618280
HP:0011563	Abnormal ventriculoarterial connection	775	CACNA1C	OMIM:601005
HP:0011563	Abnormal ventriculoarterial connection	10084	PQBP1	OMIM:309500
HP:0011563	Abnormal ventriculoarterial connection	9652	SKIC3	OMIM:222470
HP:0011563	Abnormal ventriculoarterial connection	9652	SKIC3	ORPHA:84064
HP:0011563	Abnormal ventriculoarterial connection	1663	DDX11	OMIM:613398
HP:0011563	Abnormal ventriculoarterial connection	54916	TMEM260	OMIM:617478
HP:0011563	Abnormal ventriculoarterial connection	8195	MKKS	ORPHA:2473
HP:0011563	Abnormal ventriculoarterial connection	9939	RBM8A	ORPHA:3320
HP:0011563	Abnormal ventriculoarterial connection	9939	RBM8A	OMIM:274000
HP:0011563	Abnormal ventriculoarterial connection	4853	NOTCH2	OMIM:610205
HP:0011563	Abnormal ventriculoarterial connection	28952	CCDC22	ORPHA:7
HP:0011563	Abnormal ventriculoarterial connection	257	ALX3	OMIM:136760
HP:0011563	Abnormal ventriculoarterial connection	2303	FOXC2	OMIM:153400
HP:0011563	Abnormal ventriculoarterial connection	6499	SKIC2	ORPHA:84064
HP:0011563	Abnormal ventriculoarterial connection	27152	INTU	OMIM:617925
HP:0011563	Abnormal ventriculoarterial connection	27152	INTU	OMIM:617926
HP:0011563	Abnormal ventriculoarterial connection	7490	WT1	OMIM:608978
HP:0011563	Abnormal ventriculoarterial connection	7490	WT1	ORPHA:3097
HP:0011563	Abnormal ventriculoarterial connection	23129	PLXND1	ORPHA:3384
HP:0011563	Abnormal ventriculoarterial connection	650	BMP2	OMIM:617877
HP:0011563	Abnormal ventriculoarterial connection	4000	LMNA	ORPHA:1662
HP:0011563	Abnormal ventriculoarterial connection	10269	ZMPSTE24	ORPHA:1662
HP:0011563	Abnormal ventriculoarterial connection	490	ATP2B1	OMIM:619910
HP:0011563	Abnormal ventriculoarterial connection	23389	MED13L	OMIM:616789
HP:0011563	Abnormal ventriculoarterial connection	2218	FKTN	OMIM:253800
HP:0011563	Abnormal ventriculoarterial connection	118856	MMP21	OMIM:616749
HP:0011563	Abnormal ventriculoarterial connection	2626	GATA4	ORPHA:251071
HP:0011563	Abnormal ventriculoarterial connection	2187	FANCB	OMIM:314390
HP:0011563	Abnormal ventriculoarterial connection	51715	RAB23	OMIM:201000
HP:0011563	Abnormal ventriculoarterial connection	54870	QRICH1	OMIM:617982
HP:0011563	Abnormal ventriculoarterial connection	2702	GJA5	OMIM:612474
HP:0011563	Abnormal ventriculoarterial connection	2703	GJA8	OMIM:612474
HP:0011563	Abnormal ventriculoarterial connection	1954	MEGF8	OMIM:614976
HP:0011563	Abnormal ventriculoarterial connection	2719	GPC3	OMIM:312870
HP:0011563	Abnormal ventriculoarterial connection	2239	GPC4	OMIM:312870
HP:0011563	Abnormal ventriculoarterial connection	26227	PHGDH	OMIM:256520
HP:0011563	Abnormal ventriculoarterial connection	9897	WASHC5	OMIM:220210
HP:0011563	Abnormal ventriculoarterial connection	10735	STAG2	OMIM:301043
HP:0011563	Abnormal ventriculoarterial connection	6909	TBX2	OMIM:618223
HP:0011563	Abnormal ventriculoarterial connection	23007	PLCH1	OMIM:619895
HP:0011563	Abnormal ventriculoarterial connection	10526	IPO8	OMIM:619472
HP:0011563	Abnormal ventriculoarterial connection	84231	TRAF7	OMIM:618164
HP:0011563	Abnormal ventriculoarterial connection	9487	PIGL	OMIM:280000
HP:0011563	Abnormal ventriculoarterial connection	140628	GATA5	OMIM:617912
HP:0011563	Abnormal ventriculoarterial connection	5824	PEX19	OMIM:614886
HP:0011563	Abnormal ventriculoarterial connection	55191	NADSYN1	OMIM:618845
HP:0011563	Abnormal ventriculoarterial connection	2657	GDF1	OMIM:613854
HP:0011563	Abnormal ventriculoarterial connection	526	ATP6V1B2	ORPHA:79500
HP:0011563	Abnormal ventriculoarterial connection	57465	TBC1D24	ORPHA:79500
HP:0011563	Abnormal ventriculoarterial connection	9451	EIF2AK3	ORPHA:1667
HP:0011563	Abnormal ventriculoarterial connection	4851	NOTCH1	OMIM:109730
HP:0011563	Abnormal ventriculoarterial connection	55593	OTUD5	OMIM:301056
HP:0011563	Abnormal ventriculoarterial connection	4313	MMP2	ORPHA:371428
HP:0011563	Abnormal ventriculoarterial connection	4323	MMP14	ORPHA:371428
HP:0011563	Abnormal ventriculoarterial connection	25981	DNAH1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	115948	ODAD3	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	54768	HYDIN	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	352909	DNAAF3	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	27148	STK36	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	51314	NME8	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	92749	DRC1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	54970	TTC12	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	152110	NEK10	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	8481	OFD1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	2302	FOXJ1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	221421	RSPH9	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	85478	CCDC65	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	55036	CCDC40	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	51364	ZMYND10	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	64446	DNAI2	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	6674	SPAG1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	83544	DNAL1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	89765	RSPH1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	83538	ODAD4	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	200373	CFAP221	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	374407	DNAJB13	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	55172	DNAAF2	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	161582	DNAAF4	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	2622	GAS8	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	23639	DNAAF11	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	27019	DNAI1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	345895	RSPH4A	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	54919	DNAAF5	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	6103	RPGR	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	388389	CCDC103	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	93233	ODAD1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	93233	ODAD1	OMIM:615067
HP:0011563	Abnormal ventriculoarterial connection	55130	ODAD2	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	1767	DNAH5	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	83861	RSPH3	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	345643	MCIDAS	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	56683	CFAP298	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	79925	SPEF2	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	10309	CCNO	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	115399	LRRC56	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	115399	LRRC56	OMIM:618254
HP:0011563	Abnormal ventriculoarterial connection	139212	DNAAF6	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	123872	DNAAF1	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	85016	CFAP300	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	339829	CCDC39	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	8701	DNAH11	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	1770	DNAH9	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	246176	GAS2L2	ORPHA:244
HP:0011563	Abnormal ventriculoarterial connection	10743	RAI1	ORPHA:477817
HP:0011563	Abnormal ventriculoarterial connection	54880	BCOR	OMIM:300166
HP:0011563	Abnormal ventriculoarterial connection	285590	SH3PXD2B	OMIM:249420
HP:0011563	Abnormal ventriculoarterial connection	2623	GATA1	OMIM:190685
HP:0011563	Abnormal ventriculoarterial connection	168507	PKD1L1	OMIM:617205
HP:0011563	Abnormal ventriculoarterial connection	220136	CFAP53	OMIM:614779
HP:0011563	Abnormal ventriculoarterial connection	55636	CHD7	OMIM:214800
HP:0011563	Abnormal ventriculoarterial connection	2783	GNB2	OMIM:619503
HP:0011563	Abnormal ventriculoarterial connection	7319	UBE2A	ORPHA:163956
HP:0011563	Abnormal ventriculoarterial connection	9772	TMEM94	OMIM:618316
HP:0011563	Abnormal ventriculoarterial connection	55997	CFC1	OMIM:605376
HP:0011563	Abnormal ventriculoarterial connection	137814	NKX2-6	OMIM:217095
HP:0011563	Abnormal ventriculoarterial connection	1482	NKX2-5	OMIM:217095
HP:0011563	Abnormal ventriculoarterial connection	6899	TBX1	OMIM:217095
HP:0011563	Abnormal ventriculoarterial connection	2627	GATA6	OMIM:217095
HP:0011563	Abnormal ventriculoarterial connection	5053	PAH	ORPHA:2209
HP:0011563	Abnormal ventriculoarterial connection	55784	MCTP2	ORPHA:1596
HP:0011563	Abnormal ventriculoarterial connection	26191	PTPN22	ORPHA:397
HP:0011563	Abnormal ventriculoarterial connection	3106	HLA-B	ORPHA:397
HP:0011563	Abnormal ventriculoarterial connection	3123	HLA-DRB1	ORPHA:397
HP:0011563	Abnormal ventriculoarterial connection	8974	P4HA2	ORPHA:397
HP:0011563	Abnormal ventriculoarterial connection	7547	ZIC3	OMIM:306955
HP:0011563	Abnormal ventriculoarterial connection	93	ACVR2B	OMIM:613751
HP:0011563	Abnormal ventriculoarterial connection	4087	SMAD2	OMIM:619657
HP:0011563	Abnormal ventriculoarterial connection	100128908	CIROP	OMIM:619702
HP:0011563	Abnormal ventriculoarterial connection	56006	SMG9	OMIM:619995
HP:0011563	Abnormal ventriculoarterial connection	4838	NODAL	OMIM:270100
HP:0011563	Abnormal ventriculoarterial connection	58499	ZNF462	OMIM:618619
HP:0011565	Common atrium	7547	ZIC3	OMIM:306955
HP:0011565	Common atrium	7490	WT1	OMIM:608978
HP:0011565	Common atrium	2121	EVC	OMIM:225500
HP:0011565	Common atrium	132884	EVC2	OMIM:225500
HP:0011565	Common atrium	79989	IFT56	OMIM:619534
HP:0011565	Common atrium	5567	PRKACB	OMIM:619143
HP:0011565	Common atrium	2657	GDF1	OMIM:208530
HP:0011565	Common atrium	93	ACVR2B	OMIM:613751
HP:0011565	Common atrium	220136	CFAP53	OMIM:614779
HP:0011565	Common atrium	100128908	CIROP	OMIM:619702
HP:0011565	Common atrium	118856	MMP21	OMIM:616749
HP:0011560	Mitral atresia	7547	ZIC3	OMIM:306955
HP:0011560	Mitral atresia	10128	LRPPRC	OMIM:220111
HP:0011560	Mitral atresia	84231	TRAF7	OMIM:618164
HP:0011560	Mitral atresia	92002	CCNQ	ORPHA:140952
HP:0011560	Mitral atresia	2697	GJA1	ORPHA:2248
HP:0011560	Mitral atresia	1482	NKX2-5	ORPHA:2248
HP:0011560	Mitral atresia	1482	NKX2-5	OMIM:614435
HP:0011560	Mitral atresia	55784	MCTP2	ORPHA:1596
HP:0011560	Mitral atresia	2783	GNB2	OMIM:619503
HP:0011560	Mitral atresia	118856	MMP21	OMIM:616749
HP:0011560	Mitral atresia	4851	NOTCH1	OMIM:109730
HP:0011560	Mitral atresia	6597	SMARCA4	OMIM:614609
HP:0008509	Aged leonine appearance	117581	TWIST2	OMIM:227260
HP:0031990	Chvostek sign	5741	PTH	OMIM:146200
HP:0008511	Central posterior corneal opacity	7045	TGFBI	ORPHA:98964
HP:0008513	Bilateral conductive hearing impairment	9241	NOG	OMIM:186500
HP:0008513	Bilateral conductive hearing impairment	4784	NFIX	OMIM:602535
HP:0008513	Bilateral conductive hearing impairment	8792	TNFRSF11A	OMIM:602080
HP:0008513	Bilateral conductive hearing impairment	9894	TELO2	ORPHA:488642
HP:0008513	Bilateral conductive hearing impairment	29123	ANKRD11	ORPHA:2332
HP:0008513	Bilateral conductive hearing impairment	7407	VARS1	OMIM:617802
HP:0008513	Bilateral conductive hearing impairment	1906	EDN1	OMIM:615706
HP:0008513	Bilateral conductive hearing impairment	8085	KMT2D	OMIM:620186
HP:0001350	Slurred speech	5621	PRNP	ORPHA:282166
HP:0001350	Slurred speech	5621	PRNP	ORPHA:157941
HP:0001350	Slurred speech	3752	KCND3	ORPHA:98772
HP:0001350	Slurred speech	773	CACNA1A	OMIM:183086
HP:0001350	Slurred speech	3736	KCNA1	OMIM:160120
HP:0001350	Slurred speech	3736	KCNA1	ORPHA:972
HP:0001350	Slurred speech	84894	LINGO1	OMIM:618103
HP:0001350	Slurred speech	4758	NEU1	OMIM:256550
HP:0001350	Slurred speech	4758	NEU1	ORPHA:812
HP:0001350	Slurred speech	10159	ATP6AP2	ORPHA:93952
HP:0001350	Slurred speech	10159	ATP6AP2	OMIM:300423
HP:0001350	Slurred speech	6712	SPTBN2	ORPHA:98766
HP:0001350	Slurred speech	6712	SPTBN2	ORPHA:352403
HP:0001350	Slurred speech	6507	SLC1A3	ORPHA:209967
HP:0001350	Slurred speech	6507	SLC1A3	OMIM:612656
HP:0001350	Slurred speech	2581	GALC	ORPHA:206443
HP:0001350	Slurred speech	23102	TBC1D2B	OMIM:619323
HP:0001350	Slurred speech	2720	GLB1	OMIM:230650
HP:0001350	Slurred speech	472	ATM	OMIM:208900
HP:0001350	Slurred speech	8309	ACOX2	OMIM:617308
HP:0001350	Slurred speech	767	CA8	OMIM:613227
HP:0001350	Slurred speech	57462	MYORG	OMIM:618317
HP:0001350	Slurred speech	6310	ATXN1	ORPHA:98755
HP:0001350	Slurred speech	55129	ANO10	ORPHA:284289
HP:0001350	Slurred speech	1512	CTSH	ORPHA:2073
HP:0001350	Slurred speech	5032	P2RY11	ORPHA:2073
HP:0001350	Slurred speech	4340	MOG	ORPHA:2073
HP:0001350	Slurred speech	3119	HLA-DQB1	ORPHA:2073
HP:0001350	Slurred speech	3060	HCRT	ORPHA:2073
HP:0001350	Slurred speech	22891	ZNF365	ORPHA:2073
HP:0001350	Slurred speech	7292	TNFSF4	ORPHA:2073
HP:0001350	Slurred speech	3123	HLA-DRB1	ORPHA:2073
HP:0001350	Slurred speech	23545	ATP6V0A2	ORPHA:2834
HP:0001350	Slurred speech	8622	PDE8B	OMIM:609161
HP:0001350	Slurred speech	55157	DARS2	ORPHA:137898
HP:0001350	Slurred speech	2146	EZH2	OMIM:277590
HP:0001350	Slurred speech	4566	MT-TK	ORPHA:1349
HP:0001350	Slurred speech	5428	POLG	OMIM:157640
HP:0001350	Slurred speech	23111	SPART	ORPHA:101000
HP:0001350	Slurred speech	215	ABCD1	OMIM:300100
HP:0001350	Slurred speech	55280	CWF19L1	ORPHA:453521
HP:0001350	Slurred speech	29072	SETD2	OMIM:616831
HP:0001350	Slurred speech	23230	VPS13A	ORPHA:2388
HP:0001350	Slurred speech	22868	FASTKD2	OMIM:618855
HP:0001350	Slurred speech	3708	ITPR1	OMIM:206700
HP:0001350	Slurred speech	2903	GRIN2A	ORPHA:98818
HP:0001350	Slurred speech	6687	SPG7	ORPHA:99013
HP:0001350	Slurred speech	9829	DNAJC6	ORPHA:391411
HP:0001350	Slurred speech	5420	PODXL	ORPHA:391411
HP:0001350	Slurred speech	8867	SYNJ1	ORPHA:391411
HP:0001350	Slurred speech	55367	PIDD1	OMIM:619827
HP:0001350	Slurred speech	4137	MAPT	ORPHA:240071
HP:0001351	Jerk-locked premyoclonus spikes	401474	SAMD12	OMIM:601068
HP:0001351	Jerk-locked premyoclonus spikes	55689	YEATS2	OMIM:615127
HP:0001351	Jerk-locked premyoclonus spikes	56910	STARD7	OMIM:607876
HP:0001351	Jerk-locked premyoclonus spikes	10299	MARCHF6	OMIM:613608
HP:0001355	Megalencephaly	5296	PIK3R2	OMIM:603387
HP:0001355	Megalencephaly	5296	PIK3R2	ORPHA:83473
HP:0001355	Megalencephaly	6611	SMS	ORPHA:3063
HP:0001355	Megalencephaly	8925	HERC1	ORPHA:457359
HP:0001355	Megalencephaly	8925	HERC1	OMIM:617011
HP:0001355	Megalencephaly	2261	FGFR3	OMIM:616482
HP:0001355	Megalencephaly	2261	FGFR3	OMIM:100800
HP:0001355	Megalencephaly	51256	TBC1D7	OMIM:248000
HP:0001355	Megalencephaly	894	CCND2	ORPHA:83473
HP:0001355	Megalencephaly	894	CCND2	OMIM:615938
HP:0001355	Megalencephaly	10000	AKT3	ORPHA:83473
HP:0001355	Megalencephaly	6608	SMO	OMIM:601707
HP:0001355	Megalencephaly	92335	STRADA	ORPHA:500533
HP:0001355	Megalencephaly	92335	STRADA	OMIM:611087
HP:0001355	Megalencephaly	116442	RAB39B	OMIM:311510
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:604004
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:613925
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:613926
HP:0001355	Megalencephaly	23209	MLC1	OMIM:604004
HP:0001355	Megalencephaly	5290	PIK3CA	OMIM:602501
HP:0001355	Megalencephaly	28514	DLL1	ORPHA:280195
HP:0001355	Megalencephaly	2253	FGF8	ORPHA:280195
HP:0001355	Megalencephaly	6496	SIX3	ORPHA:280195
HP:0001355	Megalencephaly	7050	TGIF1	ORPHA:280195
HP:0001355	Megalencephaly	4838	NODAL	ORPHA:280195
HP:0001355	Megalencephaly	6469	SHH	ORPHA:280195
HP:0001355	Megalencephaly	7546	ZIC2	ORPHA:280195
HP:0001355	Megalencephaly	6491	STIL	ORPHA:280195
HP:0001355	Megalencephaly	2619	GAS1	ORPHA:280195
HP:0001355	Megalencephaly	84976	DISP1	ORPHA:280195
HP:0001355	Megalencephaly	2736	GLI2	ORPHA:280195
HP:0001355	Megalencephaly	8928	FOXH1	ORPHA:280195
HP:0001355	Megalencephaly	5727	PTCH1	ORPHA:280195
HP:0001355	Megalencephaly	50937	CDON	ORPHA:280195
HP:0001355	Megalencephaly	8738	CRADD	OMIM:614499
HP:0001355	Megalencephaly	2475	MTOR	ORPHA:457485
HP:0001355	Megalencephaly	2475	MTOR	OMIM:616638
HP:0001355	Megalencephaly	443	ASPA	ORPHA:314911
HP:0001355	Megalencephaly	2263	FGFR2	OMIM:101200
HP:0001355	Megalencephaly	7249	TSC2	OMIM:613254
HP:0001355	Megalencephaly	7249	TSC2	OMIM:607341
HP:0001355	Megalencephaly	3458	IFNG	OMIM:613254
HP:0001355	Megalencephaly	5728	PTEN	OMIM:158350
HP:0001355	Megalencephaly	7248	TSC1	OMIM:191100
HP:0001355	Megalencephaly	7248	TSC1	OMIM:607341
HP:0001355	Megalencephaly	9681	DEPDC5	OMIM:604364
HP:0001355	Megalencephaly	9681	DEPDC5	ORPHA:98820
HP:0001355	Megalencephaly	3845	KRAS	OMIM:163200
HP:0001355	Megalencephaly	4893	NRAS	OMIM:163200
HP:0001355	Megalencephaly	3265	HRAS	OMIM:163200
HP:0001355	Megalencephaly	8131	NPRL3	ORPHA:98820
HP:0001355	Megalencephaly	10641	NPRL2	ORPHA:98820
HP:0000262	Turricephaly	6497	SKI	OMIM:182212
HP:0000262	Turricephaly	6857	SYT1	ORPHA:522077
HP:0000262	Turricephaly	2260	FGFR1	OMIM:101600
HP:0000262	Turricephaly	2273	FHL1	OMIM:300280
HP:0000262	Turricephaly	5189	PEX1	OMIM:214100
HP:0000262	Turricephaly	121340	SP7	OMIM:613849
HP:0000262	Turricephaly	56975	FAM20C	OMIM:259775
HP:0000262	Turricephaly	4488	MSX2	OMIM:604757
HP:0000262	Turricephaly	9321	TRIP11	OMIM:200600
HP:0000262	Turricephaly	2261	FGFR3	ORPHA:93262
HP:0000262	Turricephaly	54	ACP5	OMIM:607944
HP:0000262	Turricephaly	199857	ALG14	OMIM:619036
HP:0000262	Turricephaly	55612	FERMT1	ORPHA:2908
HP:0000262	Turricephaly	9871	SEC24D	ORPHA:2050
HP:0000262	Turricephaly	9871	SEC24D	OMIM:616294
HP:0000262	Turricephaly	5034	P4HB	ORPHA:2050
HP:0000262	Turricephaly	2879	GPX4	ORPHA:93317
HP:0000262	Turricephaly	2879	GPX4	OMIM:250220
HP:0000262	Turricephaly	29957	SLC25A24	OMIM:612289
HP:0000262	Turricephaly	7545	ZIC1	OMIM:616602
HP:0000262	Turricephaly	2077	ERF	ORPHA:207
HP:0000262	Turricephaly	80036	TRPM3	OMIM:620224
HP:0000262	Turricephaly	5830	PEX5	OMIM:214110
HP:0000262	Turricephaly	1312	COMT	ORPHA:567
HP:0000262	Turricephaly	221037	JMJD1C	ORPHA:567
HP:0000262	Turricephaly	2812	GP1BB	ORPHA:567
HP:0000262	Turricephaly	6239	RREB1	ORPHA:567
HP:0000262	Turricephaly	6899	TBX1	ORPHA:567
HP:0000262	Turricephaly	7290	HIRA	ORPHA:567
HP:0000262	Turricephaly	9632	SEC24C	ORPHA:567
HP:0000262	Turricephaly	7353	UFD1	ORPHA:567
HP:0000262	Turricephaly	421	ARVCF	ORPHA:567
HP:0000262	Turricephaly	5447	POR	ORPHA:95699
HP:0000262	Turricephaly	164	AP1G1	OMIM:619467
HP:0000262	Turricephaly	4330	MN1	OMIM:618774
HP:0000262	Turricephaly	23030	KDM4B	OMIM:619320
HP:0000262	Turricephaly	2702	GJA5	OMIM:612474
HP:0000262	Turricephaly	2703	GJA8	OMIM:612474
HP:0000262	Turricephaly	9990	SLC12A6	ORPHA:1496
HP:0000262	Turricephaly	7291	TWIST1	OMIM:123100
HP:0000262	Turricephaly	7291	TWIST1	OMIM:101400
HP:0000262	Turricephaly	2263	FGFR2	OMIM:101400
HP:0000262	Turricephaly	9401	RECQL4	OMIM:218600
HP:0000262	Turricephaly	1954	MEGF8	OMIM:614976
HP:0000262	Turricephaly	1954	MEGF8	ORPHA:65759
HP:0000262	Turricephaly	51715	RAB23	ORPHA:65759
HP:0000262	Turricephaly	55553	SOX6	OMIM:618971
HP:0000262	Turricephaly	3590	IL11RA	OMIM:614188
HP:0011573	Hypoplastic tricuspid valve	2627	GATA6	OMIM:600001
HP:0011573	Hypoplastic tricuspid valve	2627	GATA6	ORPHA:2255
HP:0011574	Imperforate atrioventricular valve	4625	MYH7	ORPHA:1880
HP:0011575	Imperforate tricuspid valve	4625	MYH7	ORPHA:1880
HP:0011577	Partial atrioventricular canal defect	25790	CFAP45	OMIM:619608
HP:0011577	Partial atrioventricular canal defect	83475	DOHH	OMIM:620066
HP:0011579	Unbalanced atrioventricular canal defect	168507	PKD1L1	OMIM:617205
HP:0011579	Unbalanced atrioventricular canal defect	220136	CFAP53	OMIM:614779
HP:0011579	Unbalanced atrioventricular canal defect	4087	SMAD2	OMIM:619657
HP:0011579	Unbalanced atrioventricular canal defect	1770	DNAH9	OMIM:618300
HP:0011579	Unbalanced atrioventricular canal defect	79989	IFT56	OMIM:619534
HP:0011571	Parachute mitral valve	2294	FOXF1	OMIM:265380
HP:0011571	Parachute mitral valve	9772	TMEM94	OMIM:618316
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1280	COL2A1	OMIM:184255
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1280	COL2A1	OMIM:184250
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1280	COL2A1	ORPHA:485
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1280	COL2A1	OMIM:183900
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2335	FN1	OMIM:184255
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1311	COMP	ORPHA:750
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1311	COMP	OMIM:177170
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2137	EXTL3	ORPHA:508533
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	54808	DYM	OMIM:223800
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	54808	DYM	OMIM:607326
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	54808	DYM	ORPHA:239
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9361	LONP1	OMIM:600373
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4921	DDR2	OMIM:271665
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	59341	TRPV4	OMIM:184252
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	59341	TRPV4	ORPHA:93314
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	59341	TRPV4	OMIM:156530
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6399	TRAPPC2	ORPHA:93284
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4784	NFIX	OMIM:602535
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2245	FGD1	OMIM:305400
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9131	AIFM1	OMIM:300232
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	55699	IARS2	OMIM:616007
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2588	GALNS	OMIM:253000
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2990	GUSB	OMIM:253220
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6023	RMRP	OMIM:250250
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2317	FLNB	OMIM:272460
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	411	ARSB	OMIM:253200
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	25839	COG4	OMIM:618150
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	25839	COG4	ORPHA:85172
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	3955	LFNG	OMIM:609813
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	3636	INPPL1	OMIM:258480
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	633	BGN	OMIM:300106
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9451	EIF2AK3	OMIM:226980
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	83452	RAB33B	OMIM:615222
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2720	GLB1	OMIM:253010
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	3425	IDUA	OMIM:607014
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	79158	GNPTAB	OMIM:252500
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4920	ROR2	OMIM:268310
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4920	ROR2	OMIM:113000
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9321	TRIP11	OMIM:200600
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	25886	POC1A	OMIM:614813
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	55120	FANCL	OMIM:614083
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	8626	TP63	OMIM:604292
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	79848	CSPP1	ORPHA:397715
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9786	KIAA0586	ORPHA:397715
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	90	ACVR1	OMIM:135100
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	50814	NSDHL	OMIM:308050
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	65992	DDRGK1	OMIM:602557
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4990	SIX6	OMIM:206900
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6657	SOX2	OMIM:206900
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	10992	SF3B2	OMIM:164210
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4853	NOTCH2	ORPHA:955
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	10682	EBP	ORPHA:35173
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1836	SLC26A2	ORPHA:93307
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1836	SLC26A2	ORPHA:56304
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1836	SLC26A2	OMIM:222600
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1836	SLC26A2	ORPHA:628
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6662	SOX9	OMIM:114290
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	347734	SLC35B2	OMIM:620269
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	415	ARSL	ORPHA:79345
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	23126	POGZ	OMIM:616364
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2517	FUCA1	OMIM:230000
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1182	CLCN3	OMIM:619512
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	1301	COL11A1	OMIM:228520
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9241	NOG	OMIM:186500
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6223	RPS19	OMIM:105650
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	3930	LBR	OMIM:215140
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	5573	PRKAR1A	ORPHA:280651
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	5573	PRKAR1A	OMIM:101800
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	5144	PDE4D	ORPHA:280651
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	60561	RINT1	OMIM:618641
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	10312	TCIRG1	ORPHA:1782
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	55315	SLC29A3	ORPHA:1782
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	8792	TNFRSF11A	ORPHA:1782
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	23169	SLC35D1	ORPHA:3144
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2799	GNS	OMIM:252940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	11128	POLR3A	ORPHA:3455
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	285362	SUMF1	OMIM:272200
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	7476	WNT7A	ORPHA:2879
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	5745	PTH1R	ORPHA:79106
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	81839	VANGL1	OMIM:600145
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	81839	VANGL1	OMIM:182940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	7547	ZIC3	OMIM:306955
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	23498	HAAO	OMIM:617660
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	3110	MNX1	OMIM:176450
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	57216	VANGL2	OMIM:182940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6347	CCL2	OMIM:182940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6862	TBXT	OMIM:182940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	6862	TBXT	OMIM:615709
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	80199	FUZ	OMIM:182940
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	4838	NODAL	OMIM:270100
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	2187	FANCB	ORPHA:3412
HP:0008517	Aplasia/Hypoplasia of the sacrum	4920	ROR2	OMIM:268310
HP:0008517	Aplasia/Hypoplasia of the sacrum	4920	ROR2	OMIM:113000
HP:0008517	Aplasia/Hypoplasia of the sacrum	9321	TRIP11	OMIM:200600
HP:0008517	Aplasia/Hypoplasia of the sacrum	25886	POC1A	OMIM:614813
HP:0008517	Aplasia/Hypoplasia of the sacrum	55120	FANCL	OMIM:614083
HP:0008517	Aplasia/Hypoplasia of the sacrum	8626	TP63	OMIM:604292
HP:0008517	Aplasia/Hypoplasia of the sacrum	2517	FUCA1	OMIM:230000
HP:0008517	Aplasia/Hypoplasia of the sacrum	6223	RPS19	OMIM:105650
HP:0008517	Aplasia/Hypoplasia of the sacrum	3110	MNX1	ORPHA:1552
HP:0008517	Aplasia/Hypoplasia of the sacrum	7476	WNT7A	ORPHA:2879
HP:0008517	Aplasia/Hypoplasia of the sacrum	81839	VANGL1	ORPHA:3027
HP:0008517	Aplasia/Hypoplasia of the sacrum	80199	FUZ	ORPHA:3027
HP:0008517	Aplasia/Hypoplasia of the sacrum	5745	PTH1R	ORPHA:79106
HP:0008517	Aplasia/Hypoplasia of the sacrum	7547	ZIC3	OMIM:306955
HP:0008517	Aplasia/Hypoplasia of the sacrum	23498	HAAO	OMIM:617660
HP:0008517	Aplasia/Hypoplasia of the sacrum	57216	VANGL2	OMIM:182940
HP:0008517	Aplasia/Hypoplasia of the sacrum	6347	CCL2	OMIM:182940
HP:0008517	Aplasia/Hypoplasia of the sacrum	6862	TBXT	OMIM:182940
HP:0008517	Aplasia/Hypoplasia of the sacrum	6862	TBXT	OMIM:615709
HP:0008517	Aplasia/Hypoplasia of the sacrum	4838	NODAL	OMIM:270100
HP:0008517	Aplasia/Hypoplasia of the sacrum	2187	FANCB	ORPHA:3412
HP:0008516	Abnormality of the vertebral spinous processes	1593	CYP27A1	ORPHA:909
HP:0008516	Abnormality of the vertebral spinous processes	1009	CDH11	ORPHA:1299
HP:0008515	Aplasia/Hypoplasia of the vertebrae	79848	CSPP1	ORPHA:397715
HP:0008515	Aplasia/Hypoplasia of the vertebrae	9786	KIAA0586	ORPHA:397715
HP:0008515	Aplasia/Hypoplasia of the vertebrae	90	ACVR1	OMIM:135100
HP:0008515	Aplasia/Hypoplasia of the vertebrae	50814	NSDHL	OMIM:308050
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2335	FN1	ORPHA:93315
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1280	COL2A1	ORPHA:93315
HP:0008515	Aplasia/Hypoplasia of the vertebrae	4990	SIX6	OMIM:206900
HP:0008515	Aplasia/Hypoplasia of the vertebrae	6657	SOX2	OMIM:206900
HP:0008515	Aplasia/Hypoplasia of the vertebrae	10992	SF3B2	OMIM:164210
HP:0008515	Aplasia/Hypoplasia of the vertebrae	4853	NOTCH2	ORPHA:955
HP:0008515	Aplasia/Hypoplasia of the vertebrae	10682	EBP	ORPHA:35173
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1836	SLC26A2	ORPHA:93307
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1836	SLC26A2	ORPHA:56304
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1836	SLC26A2	OMIM:222600
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1836	SLC26A2	ORPHA:628
HP:0008515	Aplasia/Hypoplasia of the vertebrae	59341	TRPV4	ORPHA:2635
HP:0008515	Aplasia/Hypoplasia of the vertebrae	6662	SOX9	OMIM:114290
HP:0008515	Aplasia/Hypoplasia of the vertebrae	347734	SLC35B2	OMIM:620269
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2317	FLNB	OMIM:150250
HP:0008515	Aplasia/Hypoplasia of the vertebrae	415	ARSL	ORPHA:79345
HP:0008515	Aplasia/Hypoplasia of the vertebrae	23126	POGZ	OMIM:616364
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1182	CLCN3	OMIM:619512
HP:0008515	Aplasia/Hypoplasia of the vertebrae	1301	COL11A1	OMIM:228520
HP:0008515	Aplasia/Hypoplasia of the vertebrae	65992	DDRGK1	OMIM:602557
HP:0008515	Aplasia/Hypoplasia of the vertebrae	65992	DDRGK1	ORPHA:93352
HP:0008515	Aplasia/Hypoplasia of the vertebrae	6223	RPS19	OMIM:105650
HP:0008515	Aplasia/Hypoplasia of the vertebrae	3930	LBR	OMIM:215140
HP:0008515	Aplasia/Hypoplasia of the vertebrae	5573	PRKAR1A	ORPHA:280651
HP:0008515	Aplasia/Hypoplasia of the vertebrae	5573	PRKAR1A	OMIM:101800
HP:0008515	Aplasia/Hypoplasia of the vertebrae	5144	PDE4D	ORPHA:280651
HP:0008515	Aplasia/Hypoplasia of the vertebrae	3636	INPPL1	OMIM:258480
HP:0008515	Aplasia/Hypoplasia of the vertebrae	3636	INPPL1	ORPHA:2746
HP:0008515	Aplasia/Hypoplasia of the vertebrae	3636	INPPL1	ORPHA:3144
HP:0008515	Aplasia/Hypoplasia of the vertebrae	60561	RINT1	OMIM:618641
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2720	GLB1	OMIM:230500
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2720	GLB1	OMIM:230600
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2720	GLB1	ORPHA:79255
HP:0008515	Aplasia/Hypoplasia of the vertebrae	10312	TCIRG1	ORPHA:1782
HP:0008515	Aplasia/Hypoplasia of the vertebrae	55315	SLC29A3	ORPHA:1782
HP:0008515	Aplasia/Hypoplasia of the vertebrae	8792	TNFRSF11A	ORPHA:1782
HP:0008515	Aplasia/Hypoplasia of the vertebrae	23169	SLC35D1	ORPHA:3144
HP:0008515	Aplasia/Hypoplasia of the vertebrae	2799	GNS	OMIM:252940
HP:0008515	Aplasia/Hypoplasia of the vertebrae	11128	POLR3A	ORPHA:3455
HP:0008515	Aplasia/Hypoplasia of the vertebrae	81839	VANGL1	ORPHA:3027
HP:0008515	Aplasia/Hypoplasia of the vertebrae	80199	FUZ	ORPHA:3027
HP:0008515	Aplasia/Hypoplasia of the vertebrae	285362	SUMF1	OMIM:272200
HP:0008527	Congenital sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0008527	Congenital sensorineural hearing impairment	2260	FGFR1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	81848	SPRY4	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	128674	PROKR2	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2253	FGF8	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	60675	PROK2	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	55636	CHD7	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	6870	TACR3	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	1848	DUSP6	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	26012	NSMF	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	55717	WDR11	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	9394	HS6ST1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2796	GNRH1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2798	GNRHR	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	84634	KISS1R	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	6866	TAC3	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	8822	FGF17	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	3814	KISS1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	5077	PAX3	ORPHA:894
HP:0008527	Congenital sensorineural hearing impairment	5077	PAX3	OMIM:193500
HP:0008527	Congenital sensorineural hearing impairment	51241	COX16	OMIM:619355
HP:0008527	Congenital sensorineural hearing impairment	80000	GREB1L	OMIM:619274
HP:0008527	Congenital sensorineural hearing impairment	51081	MRPS7	OMIM:617872
HP:0008527	Congenital sensorineural hearing impairment	220074	LRTOMT	OMIM:611451
HP:0008527	Congenital sensorineural hearing impairment	4919	ROR1	OMIM:617654
HP:0008527	Congenital sensorineural hearing impairment	5879	RAC1	ORPHA:500159
HP:0008527	Congenital sensorineural hearing impairment	5631	PRPS1	ORPHA:1187
HP:0008527	Congenital sensorineural hearing impairment	3753	KCNE1	OMIM:612347
HP:0008527	Congenital sensorineural hearing impairment	3766	KCNJ10	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	2299	FOXI1	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	5172	SLC26A4	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	2706	GJB2	ORPHA:2698
HP:0008527	Congenital sensorineural hearing impairment	2706	GJB2	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	3784	KCNQ1	OMIM:220400
HP:0008527	Congenital sensorineural hearing impairment	5456	POU3F4	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	10804	GJB6	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	7399	USH2A	OMIM:276901
HP:0008527	Congenital sensorineural hearing impairment	79955	PDZD7	OMIM:276901
HP:0008527	Congenital sensorineural hearing impairment	79955	PDZD7	OMIM:605472
HP:0008527	Congenital sensorineural hearing impairment	5961	PRPH2	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	6017	RLBP1	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	6010	RHO	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	5959	RDH5	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	10083	USH1C	OMIM:276904
HP:0008527	Congenital sensorineural hearing impairment	54845	ESRP1	OMIM:618013
HP:0008527	Congenital sensorineural hearing impairment	3735	KARS1	OMIM:619147
HP:0008527	Congenital sensorineural hearing impairment	7466	WFS1	ORPHA:411590
HP:0008527	Congenital sensorineural hearing impairment	6885	MAP3K7	OMIM:157800
HP:0008527	Congenital sensorineural hearing impairment	4254	KITLG	OMIM:619947
HP:0008527	Congenital sensorineural hearing impairment	4286	MITF	OMIM:103500
HP:0008527	Congenital sensorineural hearing impairment	4286	MITF	OMIM:617306
HP:0008527	Congenital sensorineural hearing impairment	65217	PCDH15	OMIM:602083
HP:0008527	Congenital sensorineural hearing impairment	8942	KYNU	ORPHA:79155
HP:0008527	Congenital sensorineural hearing impairment	84059	ADGRV1	OMIM:605472
HP:0008523	Posterior helix pit	2033	EP300	OMIM:613684
HP:0008523	Posterior helix pit	2719	GPC3	OMIM:312870
HP:0008523	Posterior helix pit	2239	GPC4	OMIM:312870
HP:0008523	Posterior helix pit	1028	CDKN1C	OMIM:130650
HP:0008523	Posterior helix pit	10984	KCNQ1OT1	OMIM:130650
HP:0008523	Posterior helix pit	3481	IGF2	OMIM:130650
HP:0008523	Posterior helix pit	3784	KCNQ1	OMIM:130650
HP:0000389	Chronic otitis media	27019	DNAI1	OMIM:244400
HP:0000389	Chronic otitis media	27019	DNAI1	ORPHA:244
HP:0000389	Chronic otitis media	139212	DNAAF6	OMIM:300991
HP:0000389	Chronic otitis media	139212	DNAAF6	ORPHA:244
HP:0000389	Chronic otitis media	85016	CFAP300	OMIM:618063
HP:0000389	Chronic otitis media	85016	CFAP300	ORPHA:244
HP:0000389	Chronic otitis media	83538	ODAD4	OMIM:617092
HP:0000389	Chronic otitis media	83538	ODAD4	ORPHA:244
HP:0000389	Chronic otitis media	3590	IL11RA	OMIM:614188
HP:0000389	Chronic otitis media	2332	FMR1	ORPHA:908
HP:0000389	Chronic otitis media	5238	PGM3	ORPHA:443811
HP:0000389	Chronic otitis media	64446	DNAI2	OMIM:612444
HP:0000389	Chronic otitis media	64446	DNAI2	ORPHA:244
HP:0000389	Chronic otitis media	6804	STX1A	ORPHA:904
HP:0000389	Chronic otitis media	7461	CLIP2	ORPHA:904
HP:0000389	Chronic otitis media	84277	DNAJC30	ORPHA:904
HP:0000389	Chronic otitis media	8468	FKBP6	ORPHA:904
HP:0000389	Chronic otitis media	5982	RFC2	ORPHA:904
HP:0000389	Chronic otitis media	2969	GTF2I	ORPHA:904
HP:0000389	Chronic otitis media	3984	LIMK1	ORPHA:904
HP:0000389	Chronic otitis media	9569	GTF2IRD1	ORPHA:904
HP:0000389	Chronic otitis media	155382	VPS37D	ORPHA:904
HP:0000389	Chronic otitis media	155368	METTL27	ORPHA:904
HP:0000389	Chronic otitis media	114049	BUD23	ORPHA:904
HP:0000389	Chronic otitis media	7458	EIF4H	ORPHA:904
HP:0000389	Chronic otitis media	84163	GTF2IRD2	ORPHA:904
HP:0000389	Chronic otitis media	9275	BCL7B	ORPHA:904
HP:0000389	Chronic otitis media	26608	TBL2	ORPHA:904
HP:0000389	Chronic otitis media	653361	NCF1	ORPHA:904
HP:0000389	Chronic otitis media	135886	TMEM270	ORPHA:904
HP:0000389	Chronic otitis media	51085	MLXIPL	ORPHA:904
HP:0000389	Chronic otitis media	9031	BAZ1B	ORPHA:904
HP:0000389	Chronic otitis media	2006	ELN	ORPHA:904
HP:0000389	Chronic otitis media	7454	WAS	ORPHA:906
HP:0000389	Chronic otitis media	7456	WIPF1	ORPHA:906
HP:0000389	Chronic otitis media	6890	TAP1	OMIM:604571
HP:0000389	Chronic otitis media	6891	TAP2	OMIM:604571
HP:0000389	Chronic otitis media	6892	TAPBP	OMIM:604571
HP:0000389	Chronic otitis media	1493	CTLA4	ORPHA:900
HP:0000389	Chronic otitis media	26191	PTPN22	ORPHA:900
HP:0000389	Chronic otitis media	3115	HLA-DPB1	ORPHA:900
HP:0000389	Chronic otitis media	5657	PRTN3	ORPHA:900
HP:0000389	Chronic otitis media	3113	HLA-DPA1	ORPHA:900
HP:0000389	Chronic otitis media	2624	GATA2	ORPHA:3226
HP:0000389	Chronic otitis media	64324	NSD1	ORPHA:821
HP:0000389	Chronic otitis media	29072	SETD2	ORPHA:821
HP:0000389	Chronic otitis media	10297	APC2	ORPHA:821
HP:0000389	Chronic otitis media	4487	MSX1	ORPHA:199302
HP:0000389	Chronic otitis media	5818	NECTIN1	ORPHA:199302
HP:0000389	Chronic otitis media	8626	TP63	ORPHA:199302
HP:0000389	Chronic otitis media	3664	IRF6	ORPHA:199302
HP:0000389	Chronic otitis media	6872	TAF1	OMIM:300966
HP:0000389	Chronic otitis media	6872	TAF1	ORPHA:480907
HP:0000389	Chronic otitis media	29123	ANKRD11	ORPHA:261250
HP:0000389	Chronic otitis media	221421	RSPH9	OMIM:612650
HP:0000389	Chronic otitis media	221421	RSPH9	ORPHA:244
HP:0000389	Chronic otitis media	25790	CFAP45	OMIM:619608
HP:0000389	Chronic otitis media	2314	FLII	ORPHA:819
HP:0000389	Chronic otitis media	23096	IQSEC2	ORPHA:819
HP:0000389	Chronic otitis media	10743	RAI1	ORPHA:819
HP:0000389	Chronic otitis media	10522	DEAF1	ORPHA:819
HP:0000389	Chronic otitis media	4952	OCRL	ORPHA:534
HP:0000389	Chronic otitis media	695	BTK	ORPHA:47
HP:0000389	Chronic otitis media	6774	STAT3	ORPHA:2314
HP:0000389	Chronic otitis media	23483	TGDS	ORPHA:1388
HP:0000389	Chronic otitis media	7994	KAT6A	OMIM:616268
HP:0000389	Chronic otitis media	64359	NXN	ORPHA:1507
HP:0000389	Chronic otitis media	4920	ROR2	ORPHA:1507
HP:0000389	Chronic otitis media	8481	OFD1	ORPHA:2750
HP:0000389	Chronic otitis media	8481	OFD1	ORPHA:244
HP:0000389	Chronic otitis media	1312	COMT	ORPHA:567
HP:0000389	Chronic otitis media	221037	JMJD1C	ORPHA:567
HP:0000389	Chronic otitis media	2812	GP1BB	ORPHA:567
HP:0000389	Chronic otitis media	6239	RREB1	ORPHA:567
HP:0000389	Chronic otitis media	6899	TBX1	ORPHA:567
HP:0000389	Chronic otitis media	7290	HIRA	ORPHA:567
HP:0000389	Chronic otitis media	9632	SEC24C	ORPHA:567
HP:0000389	Chronic otitis media	7353	UFD1	ORPHA:567
HP:0000389	Chronic otitis media	421	ARVCF	ORPHA:567
HP:0000389	Chronic otitis media	8604	SLC25A12	OMIM:612949
HP:0000389	Chronic otitis media	25981	DNAH1	ORPHA:244
HP:0000389	Chronic otitis media	115948	ODAD3	ORPHA:244
HP:0000389	Chronic otitis media	54768	HYDIN	ORPHA:244
HP:0000389	Chronic otitis media	352909	DNAAF3	ORPHA:244
HP:0000389	Chronic otitis media	27148	STK36	ORPHA:244
HP:0000389	Chronic otitis media	51314	NME8	ORPHA:244
HP:0000389	Chronic otitis media	92749	DRC1	ORPHA:244
HP:0000389	Chronic otitis media	54970	TTC12	ORPHA:244
HP:0000389	Chronic otitis media	152110	NEK10	ORPHA:244
HP:0000389	Chronic otitis media	2302	FOXJ1	ORPHA:244
HP:0000389	Chronic otitis media	85478	CCDC65	ORPHA:244
HP:0000389	Chronic otitis media	55036	CCDC40	ORPHA:244
HP:0000389	Chronic otitis media	51364	ZMYND10	ORPHA:244
HP:0000389	Chronic otitis media	6674	SPAG1	ORPHA:244
HP:0000389	Chronic otitis media	83544	DNAL1	ORPHA:244
HP:0000389	Chronic otitis media	83544	DNAL1	OMIM:614017
HP:0000389	Chronic otitis media	89765	RSPH1	ORPHA:244
HP:0000389	Chronic otitis media	200373	CFAP221	ORPHA:244
HP:0000389	Chronic otitis media	374407	DNAJB13	ORPHA:244
HP:0000389	Chronic otitis media	55172	DNAAF2	ORPHA:244
HP:0000389	Chronic otitis media	55172	DNAAF2	OMIM:612518
HP:0000389	Chronic otitis media	161582	DNAAF4	ORPHA:244
HP:0000389	Chronic otitis media	2622	GAS8	ORPHA:244
HP:0000389	Chronic otitis media	23639	DNAAF11	ORPHA:244
HP:0000389	Chronic otitis media	345895	RSPH4A	ORPHA:244
HP:0000389	Chronic otitis media	54919	DNAAF5	ORPHA:244
HP:0000389	Chronic otitis media	6103	RPGR	ORPHA:244
HP:0000389	Chronic otitis media	388389	CCDC103	ORPHA:244
HP:0000389	Chronic otitis media	93233	ODAD1	ORPHA:244
HP:0000389	Chronic otitis media	55130	ODAD2	ORPHA:244
HP:0000389	Chronic otitis media	1767	DNAH5	ORPHA:244
HP:0000389	Chronic otitis media	83861	RSPH3	ORPHA:244
HP:0000389	Chronic otitis media	345643	MCIDAS	ORPHA:244
HP:0000389	Chronic otitis media	56683	CFAP298	ORPHA:244
HP:0000389	Chronic otitis media	79925	SPEF2	ORPHA:244
HP:0000389	Chronic otitis media	10309	CCNO	ORPHA:244
HP:0000389	Chronic otitis media	115399	LRRC56	ORPHA:244
HP:0000389	Chronic otitis media	123872	DNAAF1	ORPHA:244
HP:0000389	Chronic otitis media	339829	CCDC39	ORPHA:244
HP:0000389	Chronic otitis media	8701	DNAH11	ORPHA:244
HP:0000389	Chronic otitis media	1770	DNAH9	ORPHA:244
HP:0000389	Chronic otitis media	246176	GAS2L2	ORPHA:244
HP:0000389	Chronic otitis media	9496	TBX4	ORPHA:261279
HP:0000389	Chronic otitis media	10815	CPLX1	ORPHA:280
HP:0000389	Chronic otitis media	54872	PIGG	ORPHA:280
HP:0000389	Chronic otitis media	7469	NELFA	ORPHA:280
HP:0000389	Chronic otitis media	1487	CTBP1	ORPHA:280
HP:0000389	Chronic otitis media	3954	LETM1	ORPHA:280
HP:0000389	Chronic otitis media	7468	NSD2	ORPHA:280
HP:0000389	Chronic otitis media	7161	TP73	OMIM:619466
HP:0000389	Chronic otitis media	146206	CARMIL2	OMIM:618131
HP:0000389	Chronic otitis media	860	RUNX2	ORPHA:1452
HP:0000389	Chronic otitis media	23495	TNFRSF13B	ORPHA:1572
HP:0000389	Chronic otitis media	4790	NFKB1	ORPHA:1572
HP:0000389	Chronic otitis media	4791	NFKB2	ORPHA:1572
HP:0000389	Chronic otitis media	115650	TNFRSF13C	ORPHA:1572
HP:0000389	Chronic otitis media	1380	CR2	ORPHA:1572
HP:0000389	Chronic otitis media	8742	TNFSF12	ORPHA:1572
HP:0000389	Chronic otitis media	5580	PRKCD	ORPHA:1572
HP:0000389	Chronic otitis media	930	CD19	ORPHA:1572
HP:0000389	Chronic otitis media	29851	ICOS	ORPHA:1572
HP:0000389	Chronic otitis media	931	MS4A1	ORPHA:1572
HP:0000389	Chronic otitis media	975	CD81	ORPHA:1572
HP:0000389	Chronic otitis media	359948	IRF2BP2	ORPHA:1572
HP:0000389	Chronic otitis media	2783	GNB2	OMIM:619503
HP:0000389	Chronic otitis media	175	AGA	ORPHA:93
HP:0000389	Chronic otitis media	204	AK2	ORPHA:33355
HP:0000389	Chronic otitis media	151516	ASPRV1	ORPHA:313
HP:0000389	Chronic otitis media	242	ALOX12B	ORPHA:313
HP:0000389	Chronic otitis media	126410	CYP4F22	ORPHA:313
HP:0000389	Chronic otitis media	6820	SULT2B1	ORPHA:313
HP:0000389	Chronic otitis media	26154	ABCA12	ORPHA:313
HP:0000389	Chronic otitis media	643418	LIPN	ORPHA:313
HP:0000389	Chronic otitis media	59344	ALOXE3	ORPHA:313
HP:0000389	Chronic otitis media	348938	NIPAL4	ORPHA:313
HP:0000389	Chronic otitis media	121214	SDR9C7	ORPHA:313
HP:0000389	Chronic otitis media	7051	TGM1	ORPHA:313
HP:0000389	Chronic otitis media	2263	FGFR2	OMIM:101200
HP:0000389	Chronic otitis media	6929	TCF3	ORPHA:33110
HP:0000389	Chronic otitis media	973	CD79A	ORPHA:33110
HP:0000389	Chronic otitis media	974	CD79B	ORPHA:33110
HP:0000389	Chronic otitis media	3543	IGLL1	ORPHA:33110
HP:0000389	Chronic otitis media	3507	IGHM	ORPHA:33110
HP:0000389	Chronic otitis media	29760	BLNK	ORPHA:33110
HP:0000389	Chronic otitis media	5295	PIK3R1	ORPHA:33110
HP:0000389	Chronic otitis media	56262	LRRC8A	ORPHA:33110
HP:0000389	Chronic otitis media	81704	DOCK8	ORPHA:217390
HP:0001361	Nystagmus-induced head nodding	6804	STX1A	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	7461	CLIP2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	84277	DNAJC30	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	8468	FKBP6	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	5982	RFC2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	2969	GTF2I	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	3984	LIMK1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	9569	GTF2IRD1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	155382	VPS37D	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	155368	METTL27	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	114049	BUD23	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	7458	EIF4H	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	84163	GTF2IRD2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	9275	BCL7B	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	26608	TBL2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	653361	NCF1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	135886	TMEM270	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	51085	MLXIPL	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	9031	BAZ1B	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	2006	ELN	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	4935	GPR143	OMIM:300500
HP:0001362	Calvarial skull defect	341640	FREM2	ORPHA:2052
HP:0001362	Calvarial skull defect	80144	FRAS1	ORPHA:2052
HP:0001362	Calvarial skull defect	80144	FRAS1	OMIM:219000
HP:0001362	Calvarial skull defect	23426	GRIP1	ORPHA:2052
HP:0001362	Calvarial skull defect	3339	HSPG2	OMIM:224410
HP:0001362	Calvarial skull defect	60529	ALX4	OMIM:613451
HP:0001362	Calvarial skull defect	60529	ALX4	ORPHA:228390
HP:0001362	Calvarial skull defect	54567	DLL4	OMIM:616589
HP:0001362	Calvarial skull defect	54567	DLL4	ORPHA:1114
HP:0001362	Calvarial skull defect	54567	DLL4	ORPHA:974
HP:0001362	Calvarial skull defect	7476	WNT7A	ORPHA:2879
HP:0001362	Calvarial skull defect	57514	ARHGAP31	OMIM:100300
HP:0001362	Calvarial skull defect	57514	ARHGAP31	ORPHA:974
HP:0001362	Calvarial skull defect	3930	LBR	ORPHA:1426
HP:0001362	Calvarial skull defect	284252	KCTD1	OMIM:181270
HP:0001362	Calvarial skull defect	197131	UBR1	OMIM:243800
HP:0001362	Calvarial skull defect	10815	CPLX1	ORPHA:280
HP:0001362	Calvarial skull defect	54872	PIGG	ORPHA:280
HP:0001362	Calvarial skull defect	7469	NELFA	ORPHA:280
HP:0001362	Calvarial skull defect	1487	CTBP1	ORPHA:280
HP:0001362	Calvarial skull defect	3954	LETM1	ORPHA:280
HP:0001362	Calvarial skull defect	7468	NSD2	ORPHA:280
HP:0001362	Calvarial skull defect	9790	BMS1	ORPHA:1114
HP:0001362	Calvarial skull defect	5339	PLEC	ORPHA:1114
HP:0001362	Calvarial skull defect	10054	UBA2	ORPHA:1114
HP:0001362	Calvarial skull defect	3691	ITGB4	ORPHA:1114
HP:0001362	Calvarial skull defect	80781	COL18A1	ORPHA:1571
HP:0001362	Calvarial skull defect	5062	PAK2	ORPHA:1571
HP:0001362	Calvarial skull defect	3516	RBPJ	ORPHA:974
HP:0001362	Calvarial skull defect	4851	NOTCH1	ORPHA:974
HP:0001362	Calvarial skull defect	57572	DOCK6	ORPHA:974
HP:0001362	Calvarial skull defect	285203	EOGT	ORPHA:974
HP:0004482	Relative macrocephaly	1718	DHCR24	OMIM:602398
HP:0004482	Relative macrocephaly	9791	PTDSS1	OMIM:151050
HP:0004482	Relative macrocephaly	8450	CUL4B	OMIM:300354
HP:0004482	Relative macrocephaly	8036	SHOC2	OMIM:607721
HP:0004482	Relative macrocephaly	7874	USP7	ORPHA:500055
HP:0004482	Relative macrocephaly	324	APC	ORPHA:261584
HP:0004482	Relative macrocephaly	28981	IFT81	OMIM:617895
HP:0004482	Relative macrocephaly	8216	LZTR1	OMIM:616564
HP:0004482	Relative macrocephaly	8216	LZTR1	OMIM:605275
HP:0004482	Relative macrocephaly	3481	IGF2	OMIM:616489
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:231140
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:231144
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:397590
HP:0004482	Relative macrocephaly	6016	RIT1	OMIM:615355
HP:0004482	Relative macrocephaly	23314	SATB2	ORPHA:251028
HP:0004482	Relative macrocephaly	673	BRAF	OMIM:115150
HP:0004482	Relative macrocephaly	23363	OBSL1	OMIM:612921
HP:0004482	Relative macrocephaly	4796	TONSL	ORPHA:93357
HP:0004482	Relative macrocephaly	4796	TONSL	OMIM:271510
HP:0004482	Relative macrocephaly	8091	HMGA2	OMIM:618908
HP:0004482	Relative macrocephaly	8091	HMGA2	ORPHA:397590
HP:0004482	Relative macrocephaly	2887	GRB10	ORPHA:96182
HP:0004482	Relative macrocephaly	4000	LMNA	ORPHA:740
HP:0004482	Relative macrocephaly	10269	ZMPSTE24	ORPHA:740
HP:0004482	Relative macrocephaly	283120	H19	ORPHA:231140
HP:0004482	Relative macrocephaly	283120	H19	ORPHA:231144
HP:0004482	Relative macrocephaly	9321	TRIP11	OMIM:184260
HP:0004482	Relative macrocephaly	4841	NONO	OMIM:300967
HP:0004482	Relative macrocephaly	4841	NONO	ORPHA:466791
HP:0004482	Relative macrocephaly	388015	RTL1	ORPHA:254525
HP:0004482	Relative macrocephaly	8788	DLK1	ORPHA:254525
HP:0004482	Relative macrocephaly	55384	MEG3	ORPHA:254525
HP:0004482	Relative macrocephaly	6651	SON	OMIM:617140
HP:0004482	Relative macrocephaly	6651	SON	ORPHA:500150
HP:0004482	Relative macrocephaly	83737	ITCH	OMIM:613385
HP:0004482	Relative macrocephaly	83737	ITCH	ORPHA:228426
HP:0004482	Relative macrocephaly	28952	CCDC22	OMIM:300963
HP:0004482	Relative macrocephaly	1028	CDKN1C	ORPHA:397590
HP:0004482	Relative macrocephaly	5324	PLAG1	ORPHA:397590
HP:0004482	Relative macrocephaly	8239	USP9X	OMIM:300919
HP:0004482	Relative macrocephaly	5500	PPP1CB	OMIM:617506
HP:0004482	Relative macrocephaly	4763	NF1	OMIM:193520
HP:0004482	Relative macrocephaly	6662	SOX9	OMIM:114290
HP:0004482	Relative macrocephaly	176	ACAN	ORPHA:171866
HP:0004482	Relative macrocephaly	176	ACAN	OMIM:612813
HP:0004482	Relative macrocephaly	4286	MITF	OMIM:617306
HP:0004482	Relative macrocephaly	9968	MED12	OMIM:305450
HP:0004482	Relative macrocephaly	3911	LAMA5	OMIM:620076
HP:0004482	Relative macrocephaly	11128	POLR3A	ORPHA:3455
HP:0004482	Relative macrocephaly	57231	SNX14	ORPHA:397709
HP:0004482	Relative macrocephaly	57231	SNX14	OMIM:616354
HP:0004482	Relative macrocephaly	2271	FH	OMIM:606812
HP:0004482	Relative macrocephaly	57020	VPS35L	OMIM:619135
HP:0004482	Relative macrocephaly	10940	POP1	OMIM:617396
HP:0004482	Relative macrocephaly	153241	CEP120	OMIM:616300
HP:0004482	Relative macrocephaly	64359	NXN	OMIM:618529
HP:0004482	Relative macrocephaly	5426	POLE	OMIM:615139
HP:0004482	Relative macrocephaly	5426	POLE	OMIM:618336
HP:0004482	Relative macrocephaly	64131	XYLT1	OMIM:615777
HP:0004482	Relative macrocephaly	64131	XYLT1	ORPHA:370930
HP:0004482	Relative macrocephaly	1795	DOCK3	OMIM:618292
HP:0004482	Relative macrocephaly	4982	TNFRSF11B	OMIM:239000
HP:0004482	Relative macrocephaly	7703	PCGF2	OMIM:618371
HP:0004482	Relative macrocephaly	3549	IHH	OMIM:607778
HP:0004482	Relative macrocephaly	633	BGN	OMIM:300989
HP:0004482	Relative macrocephaly	22808	MRAS	OMIM:618499
HP:0004482	Relative macrocephaly	10297	APC2	OMIM:617169
HP:0004482	Relative macrocephaly	55331	ACER3	OMIM:617762
HP:0004482	Relative macrocephaly	7067	THRA	OMIM:614450
HP:0004482	Relative macrocephaly	3930	LBR	OMIM:618019
HP:0004482	Relative macrocephaly	871	SERPINH1	OMIM:613848
HP:0004482	Relative macrocephaly	1801	DPH1	ORPHA:459061
HP:0001367	Abnormal joint morphology	6557	SLC12A1	OMIM:601678
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:143
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:99880
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:99879
HP:0001367	Abnormal joint morphology	1175	AP2S1	OMIM:600740
HP:0001367	Abnormal joint morphology	486	FXYD2	OMIM:154020
HP:0001367	Abnormal joint morphology	3758	KCNJ1	OMIM:241200
HP:0001367	Abnormal joint morphology	2767	GNA11	OMIM:145981
HP:0001367	Abnormal joint morphology	6559	SLC12A3	OMIM:263800
HP:0001367	Abnormal joint morphology	6559	SLC12A3	ORPHA:358
HP:0001367	Abnormal joint morphology	4221	MEN1	ORPHA:99879
HP:0001367	Abnormal joint morphology	9247	GCM2	ORPHA:99879
HP:0001367	Abnormal joint morphology	7486	WRN	ORPHA:902
HP:0001367	Abnormal joint morphology	1188	CLCNKB	ORPHA:358
HP:0001367	Abnormal joint morphology	1144	CHRND	OMIM:253290
HP:0001367	Abnormal joint morphology	1134	CHRNA1	OMIM:253290
HP:0001367	Abnormal joint morphology	3655	ITGA6	ORPHA:79403
HP:0001367	Abnormal joint morphology	4313	MMP2	ORPHA:371428
HP:0001367	Abnormal joint morphology	4323	MMP14	ORPHA:371428
HP:0001367	Abnormal joint morphology	4927	NUP88	ORPHA:994
HP:0001367	Abnormal joint morphology	7846	TUBA1A	ORPHA:994
HP:0001367	Abnormal joint morphology	4654	MYOD1	ORPHA:994
HP:0001367	Abnormal joint morphology	4593	MUSK	ORPHA:994
HP:0001367	Abnormal joint morphology	5913	RAPSN	ORPHA:994
HP:0001367	Abnormal joint morphology	6572	SLC18A3	ORPHA:994
HP:0001367	Abnormal joint morphology	285489	DOK7	ORPHA:994
HP:0001367	Abnormal joint morphology	57538	ALPK3	OMIM:618052
HP:0001367	Abnormal joint morphology	3339	HSPG2	OMIM:224410
HP:0001367	Abnormal joint morphology	3339	HSPG2	ORPHA:1865
HP:0001367	Abnormal joint morphology	55640	FLVCR2	OMIM:225790
HP:0001367	Abnormal joint morphology	55651	NHP2	OMIM:224230
HP:0001367	Abnormal joint morphology	55505	NOP10	OMIM:224230
HP:0001367	Abnormal joint morphology	60681	FKBP10	OMIM:259450
HP:0001367	Abnormal joint morphology	60681	FKBP10	ORPHA:2771
HP:0001367	Abnormal joint morphology	1736	DKC1	OMIM:305000
HP:0001367	Abnormal joint morphology	5352	PLOD2	ORPHA:2771
HP:0001367	Abnormal joint morphology	5352	PLOD2	OMIM:609220
HP:0001367	Abnormal joint morphology	2068	ERCC2	ORPHA:910
HP:0001367	Abnormal joint morphology	7507	XPA	ORPHA:910
HP:0001367	Abnormal joint morphology	2071	ERCC3	ORPHA:910
HP:0001367	Abnormal joint morphology	7508	XPC	ORPHA:910
HP:0001367	Abnormal joint morphology	1643	DDB2	ORPHA:910
HP:0001367	Abnormal joint morphology	2072	ERCC4	ORPHA:910
HP:0001367	Abnormal joint morphology	2073	ERCC5	ORPHA:910
HP:0001367	Abnormal joint morphology	26227	PHGDH	OMIM:256520
HP:0001367	Abnormal joint morphology	10082	GPC6	OMIM:258315
HP:0001367	Abnormal joint morphology	1947	EFNB1	OMIM:304110
HP:0001367	Abnormal joint morphology	1147	CHUK	OMIM:619339
HP:0001367	Abnormal joint morphology	57211	ADGRG6	OMIM:616503
HP:0001367	Abnormal joint morphology	4621	MYH3	ORPHA:2990
HP:0001367	Abnormal joint morphology	5339	PLEC	OMIM:226730
HP:0001367	Abnormal joint morphology	3691	ITGB4	OMIM:226730
HP:0001367	Abnormal joint morphology	54101	RIPK4	OMIM:263650
HP:0001367	Abnormal joint morphology	3549	IHH	OMIM:112500
HP:0001367	Abnormal joint morphology	3549	IHH	ORPHA:93388
HP:0001367	Abnormal joint morphology	8720	MBTPS1	OMIM:618392
HP:0001367	Abnormal joint morphology	865	CBFB	OMIM:620099
HP:0001367	Abnormal joint morphology	55650	PIGV	OMIM:239300
HP:0001367	Abnormal joint morphology	3868	KRT16	ORPHA:2199
HP:0001367	Abnormal joint morphology	3857	KRT9	ORPHA:2199
HP:0001367	Abnormal joint morphology	3848	KRT1	ORPHA:2199
HP:0001367	Abnormal joint morphology	3861	KRT14	ORPHA:69087
HP:0001367	Abnormal joint morphology	4204	MECP2	OMIM:300055
HP:0001367	Abnormal joint morphology	29895	MYL11	OMIM:619110
HP:0001367	Abnormal joint morphology	10381	TUBB3	OMIM:600638
HP:0001367	Abnormal joint morphology	57863	CADM3	OMIM:619519
HP:0001367	Abnormal joint morphology	80208	SPG11	OMIM:616668
HP:0001367	Abnormal joint morphology	388015	RTL1	ORPHA:254528
HP:0001367	Abnormal joint morphology	8788	DLK1	ORPHA:254528
HP:0001367	Abnormal joint morphology	55384	MEG3	ORPHA:254528
HP:0001367	Abnormal joint morphology	8449	DHX16	OMIM:618733
HP:0001367	Abnormal joint morphology	2067	ERCC1	OMIM:610758
HP:0001367	Abnormal joint morphology	1291	COL6A1	ORPHA:610
HP:0001367	Abnormal joint morphology	1292	COL6A2	ORPHA:610
HP:0001367	Abnormal joint morphology	1293	COL6A3	ORPHA:610
HP:0001367	Abnormal joint morphology	203859	ANO5	ORPHA:206549
HP:0001367	Abnormal joint morphology	5566	PRKACA	ORPHA:289
HP:0001367	Abnormal joint morphology	5567	PRKACB	ORPHA:289
HP:0001367	Abnormal joint morphology	2735	GLI1	ORPHA:289
HP:0001367	Abnormal joint morphology	2121	EVC	ORPHA:289
HP:0001367	Abnormal joint morphology	2121	EVC	OMIM:225500
HP:0001367	Abnormal joint morphology	51626	DYNC2LI1	ORPHA:289
HP:0001367	Abnormal joint morphology	132884	EVC2	ORPHA:289
HP:0001367	Abnormal joint morphology	132884	EVC2	OMIM:225500
HP:0001367	Abnormal joint morphology	5781	PTPN11	OMIM:156250
HP:0001367	Abnormal joint morphology	10436	EMG1	OMIM:211180
HP:0001367	Abnormal joint morphology	2690	GHR	OMIM:262500
HP:0001367	Abnormal joint morphology	1302	COL11A2	ORPHA:1427
HP:0001367	Abnormal joint morphology	79631	EFL1	ORPHA:811
HP:0001367	Abnormal joint morphology	51119	SBDS	ORPHA:811
HP:0001367	Abnormal joint morphology	6729	SRP54	ORPHA:811
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:397
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	OMIM:181000
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:220393
HP:0001367	Abnormal joint morphology	8974	P4HA2	ORPHA:397
HP:0001367	Abnormal joint morphology	355	FAS	ORPHA:3261
HP:0001367	Abnormal joint morphology	355	FAS	ORPHA:117
HP:0001367	Abnormal joint morphology	356	FASLG	ORPHA:3261
HP:0001367	Abnormal joint morphology	5580	PRKCD	ORPHA:3261
HP:0001367	Abnormal joint morphology	5580	PRKCD	OMIM:615559
HP:0001367	Abnormal joint morphology	843	CASP10	ORPHA:3261
HP:0001367	Abnormal joint morphology	10125	RASGRP1	ORPHA:3261
HP:0001367	Abnormal joint morphology	4598	MVK	OMIM:260920
HP:0001367	Abnormal joint morphology	4598	MVK	ORPHA:343
HP:0001367	Abnormal joint morphology	5631	PRPS1	ORPHA:411543
HP:0001367	Abnormal joint morphology	5631	PRPS1	ORPHA:411536
HP:0001367	Abnormal joint morphology	4072	EPCAM	OMIM:613217
HP:0001367	Abnormal joint morphology	4072	EPCAM	ORPHA:92050
HP:0001367	Abnormal joint morphology	987	LRBA	OMIM:614700
HP:0001367	Abnormal joint morphology	6696	SPP1	ORPHA:93552
HP:0001367	Abnormal joint morphology	3654	IRAK1	ORPHA:93552
HP:0001367	Abnormal joint morphology	148738	HJV	OMIM:602390
HP:0001367	Abnormal joint morphology	50943	FOXP3	OMIM:304790
HP:0001367	Abnormal joint morphology	56983	POGLUT1	ORPHA:79145
HP:0001367	Abnormal joint morphology	3852	KRT5	ORPHA:79145
HP:0001367	Abnormal joint morphology	23509	POFUT1	ORPHA:79145
HP:0001367	Abnormal joint morphology	55851	PSENEN	ORPHA:79145
HP:0001367	Abnormal joint morphology	3248	HPGD	ORPHA:1525
HP:0001367	Abnormal joint morphology	3248	HPGD	ORPHA:2796
HP:0001367	Abnormal joint morphology	3248	HPGD	OMIM:259100
HP:0001367	Abnormal joint morphology	5896	RAG1	OMIM:601457
HP:0001367	Abnormal joint morphology	5897	RAG2	OMIM:601457
HP:0001367	Abnormal joint morphology	7317	UBA1	OMIM:301054
HP:0001367	Abnormal joint morphology	7018	TF	ORPHA:1195
HP:0001367	Abnormal joint morphology	4952	OCRL	ORPHA:534
HP:0001367	Abnormal joint morphology	427	ASAH1	ORPHA:333
HP:0001367	Abnormal joint morphology	427	ASAH1	OMIM:228000
HP:0001367	Abnormal joint morphology	105371045	PERCC1	ORPHA:92050
HP:0001367	Abnormal joint morphology	1493	CTLA4	OMIM:616100
HP:0001367	Abnormal joint morphology	1493	CTLA4	OMIM:152700
HP:0001367	Abnormal joint morphology	3107	HLA-C	OMIM:177900
HP:0001367	Abnormal joint morphology	3423	IDS	ORPHA:217085
HP:0001367	Abnormal joint morphology	3423	IDS	ORPHA:217093
HP:0001367	Abnormal joint morphology	1312	COMT	ORPHA:567
HP:0001367	Abnormal joint morphology	221037	JMJD1C	ORPHA:567
HP:0001367	Abnormal joint morphology	2812	GP1BB	ORPHA:567
HP:0001367	Abnormal joint morphology	6239	RREB1	ORPHA:567
HP:0001367	Abnormal joint morphology	6899	TBX1	ORPHA:567
HP:0001367	Abnormal joint morphology	7290	HIRA	ORPHA:567
HP:0001367	Abnormal joint morphology	9632	SEC24C	ORPHA:567
HP:0001367	Abnormal joint morphology	7353	UFD1	ORPHA:567
HP:0001367	Abnormal joint morphology	421	ARVCF	ORPHA:567
HP:0001367	Abnormal joint morphology	2717	GLA	ORPHA:324
HP:0001367	Abnormal joint morphology	6578	SLCO2A1	ORPHA:2796
HP:0001367	Abnormal joint morphology	23230	VPS13A	ORPHA:2388
HP:0001367	Abnormal joint morphology	175	AGA	ORPHA:93
HP:0001367	Abnormal joint morphology	10804	GJB6	ORPHA:477
HP:0001367	Abnormal joint morphology	2706	GJB2	ORPHA:477
HP:0001367	Abnormal joint morphology	30011	SH3KBP1	OMIM:300310
HP:0001367	Abnormal joint morphology	79784	MYH14	ORPHA:397744
HP:0001367	Abnormal joint morphology	5251	PHEX	ORPHA:89936
HP:0001367	Abnormal joint morphology	3236	HOXD10	OMIM:192950
HP:0001367	Abnormal joint morphology	540	ATP7B	ORPHA:905
HP:0001367	Abnormal joint morphology	7454	WAS	ORPHA:906
HP:0001367	Abnormal joint morphology	7456	WIPF1	ORPHA:906
HP:0001367	Abnormal joint morphology	6928	HNF1B	ORPHA:93111
HP:0001367	Abnormal joint morphology	90417	KNSTRN	ORPHA:221139
HP:0001367	Abnormal joint morphology	90417	KNSTRN	OMIM:613328
HP:0001367	Abnormal joint morphology	7036	TFR2	OMIM:604250
HP:0001367	Abnormal joint morphology	1314	COPA	OMIM:616414
HP:0001367	Abnormal joint morphology	51816	ADA2	OMIM:615688
HP:0001367	Abnormal joint morphology	64135	IFIH1	OMIM:615846
HP:0001367	Abnormal joint morphology	64135	IFIH1	ORPHA:51
HP:0001367	Abnormal joint morphology	91662	NLRP12	OMIM:611762
HP:0001367	Abnormal joint morphology	2255	FGF10	ORPHA:2363
HP:0001367	Abnormal joint morphology	3662	IRF4	ORPHA:3452
HP:0001367	Abnormal joint morphology	695	BTK	ORPHA:47
HP:0001367	Abnormal joint morphology	5692	PSMB4	OMIM:617591
HP:0001367	Abnormal joint morphology	5698	PSMB9	OMIM:617591
HP:0001367	Abnormal joint morphology	654	BMP6	ORPHA:465508
HP:0001367	Abnormal joint morphology	3077	HFE	ORPHA:465508
HP:0001367	Abnormal joint morphology	3593	IL12B	ORPHA:3287
HP:0001367	Abnormal joint morphology	6945	MLX	ORPHA:3287
HP:0001367	Abnormal joint morphology	23592	LEMD3	ORPHA:1306
HP:0001367	Abnormal joint morphology	64241	ABCG8	OMIM:210250
HP:0001367	Abnormal joint morphology	6850	SYK	OMIM:619381
HP:0001367	Abnormal joint morphology	2000	ELF4	OMIM:301074
HP:0001367	Abnormal joint morphology	205327	C2orf69	OMIM:619423
HP:0001367	Abnormal joint morphology	79875	THSD4	OMIM:619825
HP:0001367	Abnormal joint morphology	2212	FCGR2A	OMIM:152700
HP:0001367	Abnormal joint morphology	2213	FCGR2B	OMIM:152700
HP:0001367	Abnormal joint morphology	11277	TREX1	OMIM:152700
HP:0001367	Abnormal joint morphology	11277	TREX1	ORPHA:51
HP:0001367	Abnormal joint morphology	1773	DNASE1	OMIM:152700
HP:0001367	Abnormal joint morphology	1235	CCR6	ORPHA:220393
HP:0001367	Abnormal joint morphology	1490	CCN2	ORPHA:220393
HP:0001367	Abnormal joint morphology	3663	IRF5	ORPHA:220393
HP:0001367	Abnormal joint morphology	857	CAV1	ORPHA:220393
HP:0001367	Abnormal joint morphology	10535	RNASEH2A	ORPHA:51
HP:0001367	Abnormal joint morphology	84153	RNASEH2C	ORPHA:51
HP:0001367	Abnormal joint morphology	25939	SAMHD1	ORPHA:51
HP:0001367	Abnormal joint morphology	79621	RNASEH2B	ORPHA:51
HP:0001367	Abnormal joint morphology	103	ADAR	ORPHA:51
HP:0001367	Abnormal joint morphology	100147744	RNU7-1	ORPHA:51
HP:0001367	Abnormal joint morphology	134353	LSM11	ORPHA:51
HP:0001367	Abnormal joint morphology	165918	RNF168	ORPHA:420741
HP:0001367	Abnormal joint morphology	6929	TCF3	ORPHA:33110
HP:0001367	Abnormal joint morphology	973	CD79A	ORPHA:33110
HP:0001367	Abnormal joint morphology	974	CD79B	ORPHA:33110
HP:0001367	Abnormal joint morphology	3543	IGLL1	ORPHA:33110
HP:0001367	Abnormal joint morphology	3507	IGHM	ORPHA:33110
HP:0001367	Abnormal joint morphology	29760	BLNK	ORPHA:33110
HP:0001367	Abnormal joint morphology	5295	PIK3R1	ORPHA:33110
HP:0001367	Abnormal joint morphology	56262	LRRC8A	ORPHA:33110
HP:0001367	Abnormal joint morphology	149233	IL23R	ORPHA:117
HP:0001367	Abnormal joint morphology	1230	CCR1	ORPHA:117
HP:0001367	Abnormal joint morphology	3592	IL12A	ORPHA:117
HP:0001367	Abnormal joint morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001367	Abnormal joint morphology	7099	TLR4	ORPHA:117
HP:0001367	Abnormal joint morphology	3459	IFNGR1	ORPHA:117
HP:0001367	Abnormal joint morphology	720	C4A	ORPHA:117
HP:0001367	Abnormal joint morphology	337867	UBAC2	ORPHA:117
HP:0001367	Abnormal joint morphology	51752	ERAP1	ORPHA:117
HP:0001367	Abnormal joint morphology	8302	KLRC4	ORPHA:117
HP:0001367	Abnormal joint morphology	54	ACP5	OMIM:607944
HP:0001367	Abnormal joint morphology	2643	GCH1	ORPHA:98808
HP:0001367	Abnormal joint morphology	4929	NR4A2	ORPHA:98808
HP:0001367	Abnormal joint morphology	3615	IMPDH2	ORPHA:98808
HP:0001367	Abnormal joint morphology	3514	IGKC	ORPHA:183675
HP:0001367	Abnormal joint morphology	3501	IGHG2	ORPHA:183675
HP:0001367	Abnormal joint morphology	2639	GCDH	ORPHA:25
HP:0001367	Abnormal joint morphology	7421	VDR	ORPHA:93160
HP:0001367	Abnormal joint morphology	11285	B4GALT7	OMIM:130070
HP:0001367	Abnormal joint morphology	30061	SLC40A1	ORPHA:139491
HP:0001367	Abnormal joint morphology	716	C1S	OMIM:617174
HP:0001367	Abnormal joint morphology	1776	DNASE1L3	ORPHA:36412
HP:0001367	Abnormal joint morphology	7227	TRPS1	ORPHA:502
HP:0001367	Abnormal joint morphology	6595	SMARCA2	ORPHA:3051
HP:0001367	Abnormal joint morphology	715	C1R	OMIM:130080
HP:0001367	Abnormal joint morphology	284058	KANSL1	ORPHA:363965
HP:0001367	Abnormal joint morphology	284058	KANSL1	ORPHA:363958
HP:0001367	Abnormal joint morphology	1289	COL5A1	OMIM:130000
HP:0001367	Abnormal joint morphology	124583	CANT1	OMIM:251450
HP:0001367	Abnormal joint morphology	26224	FBXL3	OMIM:606220
HP:0001367	Abnormal joint morphology	6748	SSR4	ORPHA:370927
HP:0001367	Abnormal joint morphology	6748	SSR4	OMIM:300934
HP:0001367	Abnormal joint morphology	23483	TGDS	OMIM:616145
HP:0001367	Abnormal joint morphology	9469	CHST3	OMIM:143095
HP:0001367	Abnormal joint morphology	404672	GTF2H5	ORPHA:33364
HP:0001367	Abnormal joint morphology	7737	RNF113A	ORPHA:33364
HP:0001367	Abnormal joint morphology	136647	MPLKIP	ORPHA:33364
HP:0001367	Abnormal joint morphology	6897	TARS1	ORPHA:33364
HP:0001367	Abnormal joint morphology	2961	GTF2E2	ORPHA:33364
HP:0001367	Abnormal joint morphology	10225	CD96	ORPHA:1308
HP:0001367	Abnormal joint morphology	9719	ADAMTSL2	ORPHA:1901
HP:0001367	Abnormal joint morphology	9509	ADAMTS2	ORPHA:1901
HP:0001367	Abnormal joint morphology	64131	XYLT1	ORPHA:370930
HP:0001367	Abnormal joint morphology	26123	TCTN3	ORPHA:2753
HP:0001367	Abnormal joint morphology	3081	HGD	ORPHA:56
HP:0001367	Abnormal joint morphology	1186	CLCN7	ORPHA:53
HP:0001367	Abnormal joint morphology	171023	ASXL1	ORPHA:97297
HP:0001367	Abnormal joint morphology	171023	ASXL1	OMIM:605039
HP:0001367	Abnormal joint morphology	2743	GLRB	ORPHA:3197
HP:0001367	Abnormal joint morphology	2741	GLRA1	ORPHA:3197
HP:0001367	Abnormal joint morphology	10243	GPHN	ORPHA:3197
HP:0001367	Abnormal joint morphology	84896	ATAD1	ORPHA:3197
HP:0001367	Abnormal joint morphology	9152	SLC6A5	ORPHA:3197
HP:0001367	Abnormal joint morphology	7046	TGFBR1	ORPHA:60030
HP:0001367	Abnormal joint morphology	7048	TGFBR2	ORPHA:60030
HP:0001367	Abnormal joint morphology	8883	NAE1	OMIM:620210
HP:0001367	Abnormal joint morphology	165	AEBP1	ORPHA:536532
HP:0001367	Abnormal joint morphology	4982	TNFRSF11B	ORPHA:1416
HP:0001367	Abnormal joint morphology	56172	ANKH	ORPHA:1416
HP:0001367	Abnormal joint morphology	9361	LONP1	OMIM:600373
HP:0001367	Abnormal joint morphology	9361	LONP1	ORPHA:1458
HP:0001367	Abnormal joint morphology	6261	RYR1	ORPHA:597
HP:0001367	Abnormal joint morphology	6261	RYR1	OMIM:117000
HP:0001367	Abnormal joint morphology	64840	PORCN	OMIM:305600
HP:0001367	Abnormal joint morphology	6628	SNRPB	OMIM:117650
HP:0001367	Abnormal joint morphology	9759	HDAC4	OMIM:619797
HP:0001367	Abnormal joint morphology	5351	PLOD1	OMIM:225400
HP:0001367	Abnormal joint morphology	134218	DNAJC21	OMIM:617052
HP:0001367	Abnormal joint morphology	1182	CLCN3	OMIM:619512
HP:0001367	Abnormal joint morphology	2138	EYA1	OMIM:113650
HP:0001367	Abnormal joint morphology	6495	SIX1	OMIM:113650
HP:0001367	Abnormal joint morphology	84627	ZNF469	OMIM:229200
HP:0001367	Abnormal joint morphology	55699	IARS2	OMIM:616007
HP:0001367	Abnormal joint morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001367	Abnormal joint morphology	7531	YWHAE	ORPHA:217385
HP:0001367	Abnormal joint morphology	6885	MAP3K7	OMIM:617137
HP:0001367	Abnormal joint morphology	9820	CUL7	ORPHA:2616
HP:0001367	Abnormal joint morphology	23363	OBSL1	ORPHA:2616
HP:0001367	Abnormal joint morphology	83987	CCDC8	ORPHA:2616
HP:0001367	Abnormal joint morphology	8239	USP9X	ORPHA:480880
HP:0001367	Abnormal joint morphology	8195	MKKS	OMIM:236700
HP:0001367	Abnormal joint morphology	1131	CHRM3	ORPHA:2970
HP:0001367	Abnormal joint morphology	1131	CHRM3	OMIM:100100
HP:0001367	Abnormal joint morphology	10060	ABCC9	OMIM:619719
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	OMIM:219200
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	OMIM:278250
HP:0001367	Abnormal joint morphology	9401	RECQL4	OMIM:268400
HP:0001367	Abnormal joint morphology	89910	UBE3B	OMIM:244450
HP:0001367	Abnormal joint morphology	1723	DHODH	OMIM:263750
HP:0001367	Abnormal joint morphology	60482	SLC5A7	ORPHA:98914
HP:0001367	Abnormal joint morphology	4649	MYO9A	ORPHA:98914
HP:0001367	Abnormal joint morphology	1305	COL13A1	ORPHA:98914
HP:0001367	Abnormal joint morphology	1103	CHAT	ORPHA:98914
HP:0001367	Abnormal joint morphology	6576	SLC25A1	ORPHA:98914
HP:0001367	Abnormal joint morphology	6843	VAMP1	ORPHA:98914
HP:0001367	Abnormal joint morphology	375790	AGRN	ORPHA:98914
HP:0001367	Abnormal joint morphology	127833	SYT2	ORPHA:98914
HP:0001367	Abnormal joint morphology	6616	SNAP25	ORPHA:98914
HP:0001367	Abnormal joint morphology	5832	ALDH18A1	OMIM:219150
HP:0001367	Abnormal joint morphology	55768	NGLY1	ORPHA:404454
HP:0001367	Abnormal joint morphology	2273	FHL1	OMIM:300280
HP:0001367	Abnormal joint morphology	7169	TPM2	OMIM:108120
HP:0001367	Abnormal joint morphology	7169	TPM2	ORPHA:2020
HP:0001367	Abnormal joint morphology	6904	TBCD	ORPHA:496641
HP:0001367	Abnormal joint morphology	7547	ZIC3	OMIM:306955
HP:0001367	Abnormal joint morphology	3835	KIF22	OMIM:603546
HP:0001367	Abnormal joint morphology	2239	GPC4	ORPHA:373
HP:0001367	Abnormal joint morphology	2719	GPC3	ORPHA:373
HP:0001367	Abnormal joint morphology	1290	COL5A2	OMIM:130010
HP:0001367	Abnormal joint morphology	523	ATP6V1A	ORPHA:357074
HP:0001367	Abnormal joint morphology	529	ATP6V1E1	ORPHA:357074
HP:0001367	Abnormal joint morphology	5528	PPP2R5D	ORPHA:457279
HP:0001367	Abnormal joint morphology	5528	PPP2R5D	OMIM:616355
HP:0001367	Abnormal joint morphology	8260	NAA10	OMIM:300855
HP:0001367	Abnormal joint morphology	50814	NSDHL	OMIM:308050
HP:0001367	Abnormal joint morphology	23522	KAT6B	OMIM:606170
HP:0001367	Abnormal joint morphology	5831	PYCR1	OMIM:612940
HP:0001367	Abnormal joint morphology	50628	GEMIN4	OMIM:617913
HP:0001367	Abnormal joint morphology	6913	TBX15	ORPHA:93333
HP:0001367	Abnormal joint morphology	9896	FIG4	OMIM:216340
HP:0001367	Abnormal joint morphology	23299	BICD2	OMIM:618291
HP:0001367	Abnormal joint morphology	22827	PUF60	ORPHA:508488
HP:0001367	Abnormal joint morphology	1281	COL3A1	ORPHA:286
HP:0001367	Abnormal joint morphology	57190	SELENON	ORPHA:2020
HP:0001367	Abnormal joint morphology	58	ACTA1	ORPHA:2020
HP:0001367	Abnormal joint morphology	4633	MYL2	ORPHA:2020
HP:0001367	Abnormal joint morphology	3679	ITGA7	ORPHA:2020
HP:0001367	Abnormal joint morphology	9200	HACD1	ORPHA:2020
HP:0001367	Abnormal joint morphology	7170	TPM3	ORPHA:2020
HP:0001367	Abnormal joint morphology	7170	TPM3	OMIM:255310
HP:0001367	Abnormal joint morphology	51776	MAP3K20	ORPHA:2020
HP:0001367	Abnormal joint morphology	51651	PTRH2	ORPHA:456312
HP:0001367	Abnormal joint morphology	9427	ECEL1	OMIM:615065
HP:0001367	Abnormal joint morphology	7067	THRA	OMIM:614450
HP:0001367	Abnormal joint morphology	8085	KMT2D	OMIM:147920
HP:0001367	Abnormal joint morphology	7403	KDM6A	OMIM:147920
HP:0001367	Abnormal joint morphology	4322	MMP13	OMIM:602111
HP:0001367	Abnormal joint morphology	4882	NPR2	OMIM:602875
HP:0001367	Abnormal joint morphology	10262	SF3B4	OMIM:154400
HP:0001367	Abnormal joint morphology	6424	SFRP4	OMIM:265900
HP:0001367	Abnormal joint morphology	85301	COL27A1	OMIM:615155
HP:0001367	Abnormal joint morphology	80207	OPA3	ORPHA:67036
HP:0001367	Abnormal joint morphology	23233	EXOC6B	ORPHA:93359
HP:0001367	Abnormal joint morphology	4010	LMX1B	ORPHA:2614
HP:0001367	Abnormal joint morphology	4010	LMX1B	OMIM:161200
HP:0001367	Abnormal joint morphology	6023	RMRP	OMIM:250250
HP:0001367	Abnormal joint morphology	6023	RMRP	ORPHA:175
HP:0001367	Abnormal joint morphology	6023	RMRP	OMIM:607095
HP:0001367	Abnormal joint morphology	89970	RSPRY1	OMIM:616723
HP:0001367	Abnormal joint morphology	89970	RSPRY1	ORPHA:457395
HP:0001367	Abnormal joint morphology	10274	STAG1	ORPHA:502434
HP:0001367	Abnormal joint morphology	538	ATP7A	OMIM:304150
HP:0001367	Abnormal joint morphology	4796	TONSL	ORPHA:93357
HP:0001367	Abnormal joint morphology	4796	TONSL	OMIM:271510
HP:0001367	Abnormal joint morphology	4148	MATN3	OMIM:608728
HP:0001367	Abnormal joint morphology	4148	MATN3	ORPHA:156728
HP:0001367	Abnormal joint morphology	55869	HDAC8	OMIM:300882
HP:0001367	Abnormal joint morphology	100151683	RNU4ATAC	OMIM:226960
HP:0001367	Abnormal joint morphology	5594	MAPK1	OMIM:619087
HP:0001367	Abnormal joint morphology	54928	BPNT2	OMIM:614078
HP:0001367	Abnormal joint morphology	83737	ITCH	OMIM:613385
HP:0001367	Abnormal joint morphology	55790	CSGALNACT1	OMIM:618870
HP:0001367	Abnormal joint morphology	1299	COL9A3	OMIM:600969
HP:0001367	Abnormal joint morphology	2782	GNB1	OMIM:616973
HP:0001367	Abnormal joint morphology	2263	FGFR2	OMIM:123790
HP:0001367	Abnormal joint morphology	23529	CLCF1	OMIM:610313
HP:0001367	Abnormal joint morphology	7030	TFE3	OMIM:301066
HP:0001367	Abnormal joint morphology	2200	FBN1	OMIM:154700
HP:0001367	Abnormal joint morphology	2261	FGFR3	OMIM:146000
HP:0001367	Abnormal joint morphology	2261	FGFR3	OMIM:100800
HP:0001367	Abnormal joint morphology	2261	FGFR3	ORPHA:15
HP:0001367	Abnormal joint morphology	25836	NIPBL	OMIM:122470
HP:0001367	Abnormal joint morphology	2146	EZH2	OMIM:277590
HP:0001367	Abnormal joint morphology	2317	FLNB	OMIM:272460
HP:0001367	Abnormal joint morphology	6910	TBX5	OMIM:142900
HP:0001367	Abnormal joint morphology	633	BGN	OMIM:300106
HP:0001367	Abnormal joint morphology	83452	RAB33B	OMIM:615222
HP:0001367	Abnormal joint morphology	6999	TDO2	OMIM:600627
HP:0001367	Abnormal joint morphology	55012	PPP2R3C	OMIM:618419
HP:0001367	Abnormal joint morphology	200734	SPRED2	OMIM:619745
HP:0001367	Abnormal joint morphology	3930	LBR	OMIM:618019
HP:0001367	Abnormal joint morphology	5116	PCNT	OMIM:210720
HP:0001367	Abnormal joint morphology	9244	CRLF1	OMIM:272430
HP:0001367	Abnormal joint morphology	157570	ESCO2	OMIM:216100
HP:0001367	Abnormal joint morphology	54808	DYM	ORPHA:239
HP:0001367	Abnormal joint morphology	368	ABCC6	ORPHA:51608
HP:0001367	Abnormal joint morphology	9663	LPIN2	OMIM:609628
HP:0001367	Abnormal joint morphology	6399	TRAPPC2	ORPHA:93284
HP:0001367	Abnormal joint morphology	90268	OTULIN	OMIM:617099
HP:0001367	Abnormal joint morphology	144811	LACC1	ORPHA:85414
HP:0001367	Abnormal joint morphology	4282	MIF	ORPHA:85414
HP:0001367	Abnormal joint morphology	3569	IL6	ORPHA:85414
HP:0001367	Abnormal joint morphology	8838	CCN6	OMIM:208230
HP:0001367	Abnormal joint morphology	8838	CCN6	ORPHA:1159
HP:0001367	Abnormal joint morphology	7157	TP53	ORPHA:668
HP:0001367	Abnormal joint morphology	5925	RB1	ORPHA:668
HP:0001367	Abnormal joint morphology	11200	CHEK2	ORPHA:668
HP:0001367	Abnormal joint morphology	2243	FGA	ORPHA:98880
HP:0001367	Abnormal joint morphology	2244	FGB	ORPHA:98880
HP:0001367	Abnormal joint morphology	2266	FGG	ORPHA:98880
HP:0001367	Abnormal joint morphology	3557	IL1RN	OMIM:612852
HP:0001367	Abnormal joint morphology	2157	F8	ORPHA:169805
HP:0001367	Abnormal joint morphology	2157	F8	ORPHA:169802
HP:0001367	Abnormal joint morphology	83550	GPR101	ORPHA:963
HP:0001367	Abnormal joint morphology	9049	AIP	ORPHA:963
HP:0001367	Abnormal joint morphology	4921	DDR2	OMIM:618175
HP:0001367	Abnormal joint morphology	2783	GNB2	OMIM:619503
HP:0001367	Abnormal joint morphology	56244	BTNL2	ORPHA:797
HP:0001367	Abnormal joint morphology	6299	SALL1	OMIM:107480
HP:0001367	Abnormal joint morphology	59341	TRPV4	OMIM:184252
HP:0001367	Abnormal joint morphology	59341	TRPV4	ORPHA:93314
HP:0001367	Abnormal joint morphology	9451	EIF2AK3	OMIM:226980
HP:0001367	Abnormal joint morphology	54187	NANS	OMIM:610442
HP:0001367	Abnormal joint morphology	79158	GNPTAB	OMIM:252600
HP:0001367	Abnormal joint morphology	79158	GNPTAB	OMIM:252500
HP:0001367	Abnormal joint morphology	9939	RBM8A	OMIM:274000
HP:0001367	Abnormal joint morphology	2324	FLT4	ORPHA:79452
HP:0001367	Abnormal joint morphology	57165	GJC2	ORPHA:79452
HP:0001367	Abnormal joint morphology	51726	DNAJB11	OMIM:618061
HP:0001367	Abnormal joint morphology	7369	UMOD	OMIM:162000
HP:0001367	Abnormal joint morphology	29927	SEC61A1	OMIM:617056
HP:0001367	Abnormal joint morphology	2538	G6PC1	OMIM:232200
HP:0001367	Abnormal joint morphology	5213	PFKM	OMIM:232800
HP:0001367	Abnormal joint morphology	4582	MUC1	OMIM:174000
HP:0001367	Abnormal joint morphology	2542	SLC37A4	OMIM:232220
HP:0001367	Abnormal joint morphology	2542	SLC37A4	OMIM:232240
HP:0001367	Abnormal joint morphology	2542	SLC37A4	ORPHA:79259
HP:0001367	Abnormal joint morphology	348	APOE	ORPHA:412
HP:0001367	Abnormal joint morphology	2038	EPB42	ORPHA:822
HP:0001367	Abnormal joint morphology	6521	SLC4A1	ORPHA:822
HP:0001367	Abnormal joint morphology	6710	SPTB	ORPHA:822
HP:0001367	Abnormal joint morphology	6708	SPTA1	ORPHA:822
HP:0001367	Abnormal joint morphology	286	ANK1	ORPHA:822
HP:0001367	Abnormal joint morphology	4040	LRP6	OMIM:610947
HP:0001367	Abnormal joint morphology	3703	STT3A	OMIM:619714
HP:0001367	Abnormal joint morphology	2778	GNAS	ORPHA:2762
HP:0001367	Abnormal joint morphology	11117	EMILIN1	OMIM:620080
HP:0001367	Abnormal joint morphology	406932	MIR140	OMIM:618618
HP:0001367	Abnormal joint morphology	57592	ZNF687	OMIM:616833
HP:0001367	Abnormal joint morphology	2629	GBA1	ORPHA:77259
HP:0001367	Abnormal joint morphology	950	SCARB2	ORPHA:77259
HP:0001367	Abnormal joint morphology	23314	SATB2	ORPHA:251028
HP:0001367	Abnormal joint morphology	8292	COLQ	ORPHA:98915
HP:0001367	Abnormal joint morphology	3913	LAMB2	ORPHA:98915
HP:0001367	Abnormal joint morphology	23204	ARL6IP1	ORPHA:401780
HP:0001367	Abnormal joint morphology	4123	MAN2C1	OMIM:619775
HP:0001367	Abnormal joint morphology	2892	GRIA3	ORPHA:364028
HP:0001367	Abnormal joint morphology	3265	HRAS	ORPHA:2612
HP:0001367	Abnormal joint morphology	3845	KRAS	ORPHA:2612
HP:0001367	Abnormal joint morphology	4893	NRAS	ORPHA:2612
HP:0001367	Abnormal joint morphology	57479	PRR12	OMIM:619539
HP:0001367	Abnormal joint morphology	10516	FBLN5	ORPHA:90348
HP:0001367	Abnormal joint morphology	1073	CFL2	OMIM:610687
HP:0001367	Abnormal joint morphology	8936	WASF1	OMIM:618707
HP:0001367	Abnormal joint morphology	57192	MCOLN1	ORPHA:578
HP:0001367	Abnormal joint morphology	25923	ATL3	OMIM:615632
HP:0001367	Abnormal joint morphology	25923	ATL3	ORPHA:36386
HP:0001367	Abnormal joint morphology	8518	ELP1	OMIM:223900
HP:0001367	Abnormal joint morphology	10558	SPTLC1	ORPHA:36386
HP:0001367	Abnormal joint morphology	9517	SPTLC2	ORPHA:36386
HP:0001367	Abnormal joint morphology	51062	ATL1	ORPHA:36386
HP:0001367	Abnormal joint morphology	55703	POLR3B	OMIM:614381
HP:0001367	Abnormal joint morphology	579	NKX3-2	OMIM:613330
HP:0001367	Abnormal joint morphology	10054	UBA2	OMIM:619959
HP:0001367	Abnormal joint morphology	79796	ALG9	OMIM:608776
HP:0001367	Abnormal joint morphology	4784	NFIX	ORPHA:447980
HP:0001367	Abnormal joint morphology	10324	KLHL41	ORPHA:171436
HP:0001367	Abnormal joint morphology	56203	LMOD3	ORPHA:171436
HP:0001367	Abnormal joint morphology	55784	MCTP2	ORPHA:1596
HP:0001367	Abnormal joint morphology	16	AARS1	OMIM:616339
HP:0001367	Abnormal joint morphology	51010	EXOSC3	OMIM:614678
HP:0001367	Abnormal joint morphology	1717	DHCR7	ORPHA:818
HP:0001367	Abnormal joint morphology	1717	DHCR7	OMIM:270400
HP:0001367	Abnormal joint morphology	9915	ARNT2	OMIM:615926
HP:0001367	Abnormal joint morphology	4626	MYH8	ORPHA:3377
HP:0001367	Abnormal joint morphology	4626	MYH8	OMIM:158300
HP:0001367	Abnormal joint morphology	2187	FANCB	ORPHA:3412
HP:0001367	Abnormal joint morphology	2187	FANCB	ORPHA:84
HP:0001367	Abnormal joint morphology	23499	MACF1	ORPHA:572013
HP:0001367	Abnormal joint morphology	387119	CEP85L	ORPHA:572013
HP:0001367	Abnormal joint morphology	29925	GMPPB	ORPHA:370968
HP:0001367	Abnormal joint morphology	29954	POMT2	ORPHA:370968
HP:0001367	Abnormal joint morphology	29954	POMT2	OMIM:613156
HP:0001367	Abnormal joint morphology	9215	LARGE1	ORPHA:370968
HP:0001367	Abnormal joint morphology	10585	POMT1	ORPHA:370968
HP:0001367	Abnormal joint morphology	1351	COX8A	OMIM:619059
HP:0001367	Abnormal joint morphology	2530	FUT8	OMIM:618005
HP:0001367	Abnormal joint morphology	4052	LTBP1	OMIM:619451
HP:0001367	Abnormal joint morphology	4052	LTBP1	ORPHA:90349
HP:0001367	Abnormal joint morphology	672	BRCA1	ORPHA:84
HP:0001367	Abnormal joint morphology	10459	MAD2L2	ORPHA:84
HP:0001367	Abnormal joint morphology	7516	XRCC2	ORPHA:84
HP:0001367	Abnormal joint morphology	29089	UBE2T	ORPHA:84
HP:0001367	Abnormal joint morphology	675	BRCA2	ORPHA:84
HP:0001367	Abnormal joint morphology	55120	FANCL	ORPHA:84
HP:0001367	Abnormal joint morphology	2177	FANCD2	ORPHA:84
HP:0001367	Abnormal joint morphology	2175	FANCA	ORPHA:84
HP:0001367	Abnormal joint morphology	2176	FANCC	ORPHA:84
HP:0001367	Abnormal joint morphology	2178	FANCE	ORPHA:84
HP:0001367	Abnormal joint morphology	2188	FANCF	ORPHA:84
HP:0001367	Abnormal joint morphology	2189	FANCG	ORPHA:84
HP:0001367	Abnormal joint morphology	5888	RAD51	ORPHA:84
HP:0001367	Abnormal joint morphology	5889	RAD51C	ORPHA:84
HP:0001367	Abnormal joint morphology	55159	RFWD3	ORPHA:84
HP:0001367	Abnormal joint morphology	83990	BRIP1	ORPHA:84
HP:0001367	Abnormal joint morphology	57697	FANCM	ORPHA:84
HP:0001367	Abnormal joint morphology	79728	PALB2	ORPHA:84
HP:0001367	Abnormal joint morphology	84464	SLX4	ORPHA:84
HP:0001367	Abnormal joint morphology	55215	FANCI	ORPHA:84
HP:0001367	Abnormal joint morphology	6678	SPARC	OMIM:616507
HP:0001367	Abnormal joint morphology	25778	DSTYK	ORPHA:101003
HP:0001367	Abnormal joint morphology	57531	HACE1	ORPHA:464282
HP:0001367	Abnormal joint morphology	57531	HACE1	OMIM:616756
HP:0001367	Abnormal joint morphology	55697	VAC14	ORPHA:3472
HP:0001367	Abnormal joint morphology	860	RUNX2	OMIM:119600
HP:0001367	Abnormal joint morphology	22872	SEC31A	OMIM:618651
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93926
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93924
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93925
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:220386
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93926
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93924
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93925
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:220386
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93926
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93924
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93925
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:220386
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93926
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93924
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93925
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:220386
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93926
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93924
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93925
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:220386
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93926
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93924
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93925
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:220386
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93926
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93924
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93925
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:220386
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93926
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93924
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93925
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:220386
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93926
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93924
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93925
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:220386
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93926
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93924
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93925
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:220386
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93926
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93924
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93925
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:220386
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93926
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93924
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93925
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:220386
HP:0001367	Abnormal joint morphology	23007	PLCH1	ORPHA:93925
HP:0001367	Abnormal joint morphology	10735	STAG2	ORPHA:93925
HP:0001367	Abnormal joint morphology	10735	STAG2	ORPHA:220386
HP:0001367	Abnormal joint morphology	64374	SIL1	ORPHA:559
HP:0001367	Abnormal joint morphology	51763	INPP5K	ORPHA:559
HP:0001367	Abnormal joint morphology	9487	PIGL	ORPHA:3474
HP:0001367	Abnormal joint morphology	2313	FLI1	ORPHA:2308
HP:0001367	Abnormal joint morphology	57003	CCDC47	OMIM:618268
HP:0001367	Abnormal joint morphology	1861	TOR1A	OMIM:618947
HP:0001367	Abnormal joint morphology	3098	HK1	OMIM:618547
HP:0001367	Abnormal joint morphology	6608	SMO	OMIM:241800
HP:0001367	Abnormal joint morphology	81031	SLC2A10	ORPHA:3342
HP:0001367	Abnormal joint morphology	6558	SLC12A2	OMIM:619083
HP:0001367	Abnormal joint morphology	78989	COLEC11	OMIM:265050
HP:0001367	Abnormal joint morphology	78989	COLEC11	ORPHA:293843
HP:0001367	Abnormal joint morphology	3251	HPRT1	OMIM:300322
HP:0001367	Abnormal joint morphology	113246	C12orf57	OMIM:218340
HP:0001367	Abnormal joint morphology	30008	EFEMP2	ORPHA:90349
HP:0001367	Abnormal joint morphology	92344	GORAB	ORPHA:2078
HP:0001367	Abnormal joint morphology	10584	COLEC10	ORPHA:293843
HP:0001367	Abnormal joint morphology	5648	MASP1	ORPHA:293843
HP:0001367	Abnormal joint morphology	81603	TRIM8	OMIM:619428
HP:0001367	Abnormal joint morphology	1497	CTNS	OMIM:219800
HP:0001367	Abnormal joint morphology	875	CBS	ORPHA:394
HP:0001367	Abnormal joint morphology	2972	BRF1	OMIM:616202
HP:0001367	Abnormal joint morphology	7360	UGP2	OMIM:618744
HP:0001367	Abnormal joint morphology	3021	H3-3B	OMIM:619721
HP:0001367	Abnormal joint morphology	23322	RPGRIP1L	OMIM:611560
HP:0001367	Abnormal joint morphology	84572	GNPTG	OMIM:252605
HP:0001367	Abnormal joint morphology	7040	TGFB1	OMIM:131300
HP:0001367	Abnormal joint morphology	7040	TGFB1	ORPHA:1328
HP:0001367	Abnormal joint morphology	815	CAMK2A	OMIM:617798
HP:0001367	Abnormal joint morphology	83480	PUS3	ORPHA:488627
HP:0001367	Abnormal joint morphology	157680	VPS13B	OMIM:216550
HP:0001367	Abnormal joint morphology	157680	VPS13B	ORPHA:193
HP:0001367	Abnormal joint morphology	9839	ZEB2	ORPHA:261552
HP:0001367	Abnormal joint morphology	9839	ZEB2	ORPHA:261537
HP:0001367	Abnormal joint morphology	4763	NF1	ORPHA:363700
HP:0001367	Abnormal joint morphology	4763	NF1	OMIM:162200
HP:0001367	Abnormal joint morphology	5376	PMP22	ORPHA:3115
HP:0001367	Abnormal joint morphology	4359	MPZ	ORPHA:3115
HP:0001367	Abnormal joint morphology	1588	CYP19A1	ORPHA:91
HP:0001367	Abnormal joint morphology	3043	HBB	ORPHA:231214
HP:0001367	Abnormal joint morphology	3043	HBB	ORPHA:231226
HP:0001367	Abnormal joint morphology	5593	PRKG2	OMIM:619636
HP:0001367	Abnormal joint morphology	55027	HEATR3	OMIM:620072
HP:0001367	Abnormal joint morphology	23162	MAPK8IP3	OMIM:618443
HP:0001367	Abnormal joint morphology	9394	HS6ST1	OMIM:614880
HP:0001367	Abnormal joint morphology	546	ATRX	OMIM:309580
HP:0001367	Abnormal joint morphology	84695	LOXL3	ORPHA:250984
HP:0001367	Abnormal joint morphology	55081	IFT57	OMIM:617927
HP:0001367	Abnormal joint morphology	8600	TNFSF11	OMIM:259710
HP:0001367	Abnormal joint morphology	26160	IFT172	OMIM:615630
HP:0001367	Abnormal joint morphology	23394	ADNP	OMIM:615873
HP:0001367	Abnormal joint morphology	7681	MKRN3	OMIM:176270
HP:0001367	Abnormal joint morphology	3653	IPW	OMIM:176270
HP:0001367	Abnormal joint morphology	54551	MAGEL2	OMIM:176270
HP:0001367	Abnormal joint morphology	791114	PWRN1	OMIM:176270
HP:0001367	Abnormal joint morphology	100033413	SNORD116-1	OMIM:176270
HP:0001367	Abnormal joint morphology	8924	HERC2	OMIM:176270
HP:0001367	Abnormal joint morphology	145624	PWAR1	OMIM:176270
HP:0001367	Abnormal joint morphology	23742	NPAP1	OMIM:176270
HP:0001367	Abnormal joint morphology	338433	SNORD115-1	OMIM:176270
HP:0001367	Abnormal joint morphology	8882	ZPR1	OMIM:619321
HP:0001367	Abnormal joint morphology	137682	NDUFAF6	OMIM:618913
HP:0001367	Abnormal joint morphology	5605	MAP2K2	ORPHA:1340
HP:0001367	Abnormal joint morphology	23111	SPART	ORPHA:101000
HP:0001367	Abnormal joint morphology	6711	SPTBN1	OMIM:619475
HP:0001367	Abnormal joint morphology	80152	CENPT	OMIM:618702
HP:0001367	Abnormal joint morphology	5184	PEPD	ORPHA:742
HP:0001367	Abnormal joint morphology	374879	ZNF699	OMIM:619488
HP:0001367	Abnormal joint morphology	10651	MTX2	OMIM:619127
HP:0001367	Abnormal joint morphology	8139	GAN	ORPHA:643
HP:0001367	Abnormal joint morphology	80169	CTC1	OMIM:612199
HP:0001367	Abnormal joint morphology	25871	NEPRO	OMIM:618853
HP:0001367	Abnormal joint morphology	871	SERPINH1	OMIM:613848
HP:0001367	Abnormal joint morphology	6660	SOX5	ORPHA:313892
HP:0001367	Abnormal joint morphology	5727	PTCH1	ORPHA:377
HP:0001367	Abnormal joint morphology	5727	PTCH1	OMIM:109400
HP:0001367	Abnormal joint morphology	8643	PTCH2	ORPHA:377
HP:0001367	Abnormal joint morphology	51684	SUFU	ORPHA:377
HP:0001367	Abnormal joint morphology	79147	FKRP	OMIM:606612
HP:0001367	Abnormal joint morphology	79147	FKRP	OMIM:607155
HP:0001367	Abnormal joint morphology	2335	FN1	ORPHA:93315
HP:0001367	Abnormal joint morphology	54361	WNT4	ORPHA:3109
HP:0001367	Abnormal joint morphology	29123	ANKRD11	ORPHA:2332
HP:0001367	Abnormal joint morphology	29123	ANKRD11	OMIM:148050
HP:0001367	Abnormal joint morphology	55191	NADSYN1	OMIM:618845
HP:0001367	Abnormal joint morphology	54499	TMCO1	OMIM:213980
HP:0001367	Abnormal joint morphology	4089	SMAD4	OMIM:139210
HP:0001367	Abnormal joint morphology	4854	NOTCH3	OMIM:130720
HP:0001367	Abnormal joint morphology	53834	FGFRL1	OMIM:194190
HP:0001367	Abnormal joint morphology	1487	CTBP1	OMIM:194190
HP:0001367	Abnormal joint morphology	3954	LETM1	OMIM:194190
HP:0001367	Abnormal joint morphology	7468	NSD2	OMIM:194190
HP:0001367	Abnormal joint morphology	10815	CPLX1	OMIM:194190
HP:0001367	Abnormal joint morphology	4990	SIX6	OMIM:206900
HP:0001367	Abnormal joint morphology	6657	SOX2	OMIM:206900
HP:0001367	Abnormal joint morphology	6911	TBX6	OMIM:122600
HP:0001367	Abnormal joint morphology	10126	DNAL4	ORPHA:238722
HP:0001367	Abnormal joint morphology	9423	NTN1	ORPHA:238722
HP:0001367	Abnormal joint morphology	1630	DCC	ORPHA:238722
HP:0001367	Abnormal joint morphology	22943	DKK1	ORPHA:268882
HP:0001367	Abnormal joint morphology	51729	WBP11	OMIM:619227
HP:0001367	Abnormal joint morphology	5828	PEX2	OMIM:614866
HP:0001367	Abnormal joint morphology	55717	WDR11	OMIM:620237
HP:0001367	Abnormal joint morphology	10940	POP1	OMIM:617396
HP:0001367	Abnormal joint morphology	444	ASPH	OMIM:601552
HP:0001367	Abnormal joint morphology	23395	LARS2	OMIM:615300
HP:0001367	Abnormal joint morphology	6736	SRY	ORPHA:1772
HP:0001367	Abnormal joint morphology	1576	CYP3A4	OMIM:619073
HP:0001367	Abnormal joint morphology	284403	WDR62	OMIM:604317
HP:0001367	Abnormal joint morphology	4318	MMP9	OMIM:613073
HP:0001367	Abnormal joint morphology	6137	RPL13	OMIM:618728
HP:0001367	Abnormal joint morphology	5442	POLRMT	OMIM:619743
HP:0001367	Abnormal joint morphology	6154	RPL26	OMIM:614900
HP:0001367	Abnormal joint morphology	4094	MAF	ORPHA:1272
HP:0001367	Abnormal joint morphology	4094	MAF	OMIM:601088
HP:0001367	Abnormal joint morphology	29998	BICRA	OMIM:619325
HP:0001367	Abnormal joint morphology	50945	TBX22	OMIM:302905
HP:0001367	Abnormal joint morphology	50945	TBX22	ORPHA:921
HP:0001367	Abnormal joint morphology	22800	RRAS2	ORPHA:648
HP:0001367	Abnormal joint morphology	867	CBL	ORPHA:648
HP:0001367	Abnormal joint morphology	8216	LZTR1	ORPHA:648
HP:0001367	Abnormal joint morphology	6016	RIT1	ORPHA:648
HP:0001367	Abnormal joint morphology	6237	RRAS	ORPHA:648
HP:0001367	Abnormal joint morphology	5894	RAF1	ORPHA:648
HP:0001367	Abnormal joint morphology	22808	MRAS	ORPHA:648
HP:0001367	Abnormal joint morphology	6654	SOS1	ORPHA:648
HP:0001367	Abnormal joint morphology	6655	SOS2	ORPHA:648
HP:0001367	Abnormal joint morphology	5922	RASA2	ORPHA:648
HP:0001367	Abnormal joint morphology	26040	SETBP1	ORPHA:798
HP:0001367	Abnormal joint morphology	83932	SPRTN	OMIM:616200
HP:0001367	Abnormal joint morphology	3908	LAMA2	OMIM:618138
HP:0001367	Abnormal joint morphology	84065	TMEM222	OMIM:619470
HP:0001367	Abnormal joint morphology	340419	RSPO2	OMIM:618022
HP:0001367	Abnormal joint morphology	2799	GNS	OMIM:252940
HP:0001367	Abnormal joint morphology	5286	PIK3C2A	OMIM:618440
HP:0001367	Abnormal joint morphology	79188	TMEM43	ORPHA:98853
HP:0001367	Abnormal joint morphology	23224	SYNE2	ORPHA:98853
HP:0001367	Abnormal joint morphology	145173	B3GLCT	OMIM:261540
HP:0001367	Abnormal joint morphology	8815	BANF1	OMIM:614008
HP:0001367	Abnormal joint morphology	375	ARF1	ORPHA:98892
HP:0001367	Abnormal joint morphology	4131	MAP1B	ORPHA:98892
HP:0001367	Abnormal joint morphology	160418	TMTC3	ORPHA:98892
HP:0001367	Abnormal joint morphology	10564	ARFGEF2	ORPHA:98892
HP:0001367	Abnormal joint morphology	55780	ERMARD	ORPHA:98892
HP:0001367	Abnormal joint morphology	50515	CHST11	OMIM:618167
HP:0001367	Abnormal joint morphology	7528	YY1	OMIM:617557
HP:0001367	Abnormal joint morphology	91461	PKDCC	OMIM:618821
HP:0001367	Abnormal joint morphology	5728	PTEN	ORPHA:744
HP:0001367	Abnormal joint morphology	207	AKT1	ORPHA:744
HP:0001367	Abnormal joint morphology	6926	TBX3	ORPHA:3138
HP:0001367	Abnormal joint morphology	65125	WNK1	ORPHA:970
HP:0001367	Abnormal joint morphology	54463	RETREG1	ORPHA:970
HP:0001367	Abnormal joint morphology	547	KIF1A	ORPHA:970
HP:0001367	Abnormal joint morphology	4914	NTRK1	ORPHA:642
HP:0001367	Abnormal joint morphology	5718	PSMD12	ORPHA:529962
HP:0001367	Abnormal joint morphology	2186	BPTF	ORPHA:529962
HP:0001367	Abnormal joint morphology	6804	STX1A	ORPHA:904
HP:0001367	Abnormal joint morphology	7461	CLIP2	ORPHA:904
HP:0001367	Abnormal joint morphology	84277	DNAJC30	ORPHA:904
HP:0001367	Abnormal joint morphology	8468	FKBP6	ORPHA:904
HP:0001367	Abnormal joint morphology	5982	RFC2	ORPHA:904
HP:0001367	Abnormal joint morphology	2969	GTF2I	ORPHA:904
HP:0001367	Abnormal joint morphology	3984	LIMK1	ORPHA:904
HP:0001367	Abnormal joint morphology	9569	GTF2IRD1	ORPHA:904
HP:0001367	Abnormal joint morphology	155382	VPS37D	ORPHA:904
HP:0001367	Abnormal joint morphology	155368	METTL27	ORPHA:904
HP:0001367	Abnormal joint morphology	114049	BUD23	ORPHA:904
HP:0001367	Abnormal joint morphology	7458	EIF4H	ORPHA:904
HP:0001367	Abnormal joint morphology	84163	GTF2IRD2	ORPHA:904
HP:0001367	Abnormal joint morphology	9275	BCL7B	ORPHA:904
HP:0001367	Abnormal joint morphology	26608	TBL2	ORPHA:904
HP:0001367	Abnormal joint morphology	653361	NCF1	ORPHA:904
HP:0001367	Abnormal joint morphology	135886	TMEM270	ORPHA:904
HP:0001367	Abnormal joint morphology	51085	MLXIPL	ORPHA:904
HP:0001367	Abnormal joint morphology	9031	BAZ1B	ORPHA:904
HP:0001367	Abnormal joint morphology	2006	ELN	ORPHA:904
HP:0001367	Abnormal joint morphology	1297	COL9A1	ORPHA:166002
HP:0001367	Abnormal joint morphology	120227	CYP2R1	OMIM:600081
HP:0001367	Abnormal joint morphology	120227	CYP2R1	ORPHA:289157
HP:0001367	Abnormal joint morphology	1594	CYP27B1	OMIM:264700
HP:0001367	Abnormal joint morphology	1594	CYP27B1	ORPHA:289157
HP:0001367	Abnormal joint morphology	1184	CLCN5	OMIM:300554
HP:0001367	Abnormal joint morphology	1184	CLCN5	OMIM:300009
HP:0001367	Abnormal joint morphology	4625	MYH7	ORPHA:437572
HP:0001367	Abnormal joint morphology	142680	SLC34A3	OMIM:241530
HP:0001367	Abnormal joint morphology	374654	KIF7	OMIM:607131
HP:0001367	Abnormal joint morphology	374654	KIF7	ORPHA:166024
HP:0001367	Abnormal joint morphology	1301	COL11A1	OMIM:604841
HP:0001367	Abnormal joint morphology	1777	DNASE2	OMIM:619858
HP:0001367	Abnormal joint morphology	249	ALPL	OMIM:146300
HP:0001367	Abnormal joint morphology	3572	IL6ST	OMIM:618523
HP:0001367	Abnormal joint morphology	57817	HAMP	ORPHA:79230
HP:0001367	Abnormal joint morphology	4803	NGF	OMIM:608654
HP:0001367	Abnormal joint morphology	650	BMP2	OMIM:235200
HP:0001367	Abnormal joint morphology	56603	CYP26B1	OMIM:614416
HP:0001367	Abnormal joint morphology	23476	BRD4	ORPHA:199
HP:0001367	Abnormal joint morphology	9126	SMC3	ORPHA:199
HP:0001367	Abnormal joint morphology	8243	SMC1A	ORPHA:199
HP:0001367	Abnormal joint morphology	5885	RAD21	ORPHA:199
HP:0001367	Abnormal joint morphology	1857	DVL3	ORPHA:3107
HP:0001367	Abnormal joint morphology	9555	MACROH2A1	ORPHA:1275
HP:0001367	Abnormal joint morphology	324	APC	ORPHA:3258
HP:0001367	Abnormal joint morphology	64359	NXN	ORPHA:1507
HP:0001367	Abnormal joint morphology	55636	CHD7	OMIM:214800
HP:0001367	Abnormal joint morphology	8642	DCHS1	OMIM:601390
HP:0001367	Abnormal joint morphology	23387	SIK3	OMIM:618162
HP:0001367	Abnormal joint morphology	57498	KIDINS220	OMIM:619501
HP:0001367	Abnormal joint morphology	5881	RAC3	OMIM:618577
HP:0001367	Abnormal joint morphology	7140	TNNT3	ORPHA:1147
HP:0001367	Abnormal joint morphology	7140	TNNT3	OMIM:618435
HP:0001367	Abnormal joint morphology	7136	TNNI2	ORPHA:1147
HP:0001367	Abnormal joint morphology	7136	TNNI2	OMIM:601680
HP:0001367	Abnormal joint morphology	79087	ALG12	ORPHA:79324
HP:0001367	Abnormal joint morphology	9496	TBX4	OMIM:147891
HP:0001367	Abnormal joint morphology	9496	TBX4	ORPHA:261279
HP:0001367	Abnormal joint morphology	57688	ZSWIM6	ORPHA:1827
HP:0001367	Abnormal joint morphology	57688	ZSWIM6	OMIM:603671
HP:0001367	Abnormal joint morphology	5307	PITX1	OMIM:119800
HP:0001367	Abnormal joint morphology	55148	UBR7	OMIM:619189
HP:0001367	Abnormal joint morphology	54496	PRMT7	ORPHA:464288
HP:0001367	Abnormal joint morphology	23594	ORC6	OMIM:613803
HP:0001367	Abnormal joint morphology	64682	ANAPC1	ORPHA:221008
HP:0001367	Abnormal joint morphology	56896	DPYSL5	OMIM:619435
HP:0001367	Abnormal joint morphology	2554	GABRA1	ORPHA:33069
HP:0001367	Abnormal joint morphology	57526	PCDH19	ORPHA:33069
HP:0001367	Abnormal joint morphology	25839	COG4	OMIM:618150
HP:0001367	Abnormal joint morphology	51199	NIN	OMIM:614851
HP:0001367	Abnormal joint morphology	51199	NIN	ORPHA:319675
HP:0001367	Abnormal joint morphology	2697	GJA1	ORPHA:2710
HP:0001367	Abnormal joint morphology	2260	FGFR1	OMIM:101600
HP:0001367	Abnormal joint morphology	9791	PTDSS1	ORPHA:2658
HP:0001367	Abnormal joint morphology	1387	CREBBP	OMIM:180849
HP:0001367	Abnormal joint morphology	2033	EP300	OMIM:180849
HP:0001367	Abnormal joint morphology	10847	SRCAP	OMIM:136140
HP:0001367	Abnormal joint morphology	10847	SRCAP	ORPHA:2044
HP:0001367	Abnormal joint morphology	91179	SCARF2	OMIM:600920
HP:0001367	Abnormal joint morphology	8318	CDC45	OMIM:617063
HP:0001367	Abnormal joint morphology	6662	SOX9	OMIM:114290
HP:0001367	Abnormal joint morphology	2535	FZD2	OMIM:164745
HP:0001367	Abnormal joint morphology	4920	ROR2	OMIM:268310
HP:0001367	Abnormal joint morphology	6497	SKI	OMIM:182212
HP:0001367	Abnormal joint morphology	57492	ARID1B	OMIM:135900
HP:0001367	Abnormal joint morphology	3899	AFF3	OMIM:619297
HP:0001367	Abnormal joint morphology	4853	NOTCH2	OMIM:102500
HP:0001367	Abnormal joint morphology	3897	L1CAM	OMIM:304100
HP:0001367	Abnormal joint morphology	91252	SLC39A13	OMIM:612350
HP:0001367	Abnormal joint morphology	545	ATR	OMIM:210600
HP:0001367	Abnormal joint morphology	649	BMP1	OMIM:614856
HP:0001367	Abnormal joint morphology	29980	DONSON	OMIM:617604
HP:0001367	Abnormal joint morphology	5573	PRKAR1A	OMIM:101800
HP:0001367	Abnormal joint morphology	65992	DDRGK1	ORPHA:93352
HP:0001367	Abnormal joint morphology	176	ACAN	OMIM:165800
HP:0001367	Abnormal joint morphology	4522	MTHFD1	OMIM:617780
HP:0001367	Abnormal joint morphology	4615	MYD88	OMIM:612260
HP:0001367	Abnormal joint morphology	3426	CFI	OMIM:610984
HP:0001367	Abnormal joint morphology	6473	SHOX	OMIM:127300
HP:0001367	Abnormal joint morphology	341208	HEPHL1	OMIM:261990
HP:0001367	Abnormal joint morphology	5745	PTH1R	ORPHA:79106
HP:0001367	Abnormal joint morphology	79848	CSPP1	ORPHA:397715
HP:0001367	Abnormal joint morphology	9786	KIAA0586	ORPHA:397715
HP:0001367	Abnormal joint morphology	91147	TMEM67	ORPHA:140976
HP:0001367	Abnormal joint morphology	60561	RINT1	OMIM:618641
HP:0001367	Abnormal joint morphology	5176	SERPINF1	OMIM:613982
HP:0001367	Abnormal joint morphology	10491	CRTAP	OMIM:610682
HP:0001367	Abnormal joint morphology	7042	TGFB2	OMIM:614816
HP:0001367	Abnormal joint morphology	153241	CEP120	OMIM:616300
HP:0001367	Abnormal joint morphology	1108	CHD4	OMIM:617159
HP:0001367	Abnormal joint morphology	57539	WDR35	OMIM:614091
HP:0001367	Abnormal joint morphology	3636	INPPL1	OMIM:258480
HP:0001367	Abnormal joint morphology	26175	LYSET	OMIM:619345
HP:0001367	Abnormal joint morphology	9321	TRIP11	OMIM:184260
HP:0001367	Abnormal joint morphology	51098	IFT52	OMIM:617102
HP:0001367	Abnormal joint morphology	51025	PAM16	OMIM:613320
HP:0001367	Abnormal joint morphology	23169	SLC35D1	OMIM:269250
HP:0001367	Abnormal joint morphology	2879	GPX4	OMIM:250220
HP:0001367	Abnormal joint morphology	55325	UFSP2	OMIM:142669
HP:0001367	Abnormal joint morphology	51715	RAB23	OMIM:201000
HP:0001367	Abnormal joint morphology	2623	GATA1	OMIM:190685
HP:0001367	Abnormal joint morphology	50485	SMARCAL1	ORPHA:1830
HP:0001367	Abnormal joint morphology	50485	SMARCAL1	OMIM:242900
HP:0001367	Abnormal joint morphology	3207	HOXA11	OMIM:605432
HP:0001367	Abnormal joint morphology	9382	COG1	OMIM:611209
HP:0001367	Abnormal joint morphology	9653	HS2ST1	OMIM:619194
HP:0001367	Abnormal joint morphology	274	BIN1	ORPHA:169186
HP:0001367	Abnormal joint morphology	10290	SPEG	ORPHA:169186
HP:0001367	Abnormal joint morphology	10290	SPEG	OMIM:615959
HP:0001367	Abnormal joint morphology	7273	TTN	ORPHA:169186
HP:0001367	Abnormal joint morphology	55906	ZC4H2	OMIM:301041
HP:0001367	Abnormal joint morphology	9894	TELO2	ORPHA:488642
HP:0001367	Abnormal joint morphology	285175	UNC80	OMIM:616801
HP:0001367	Abnormal joint morphology	285175	UNC80	ORPHA:371364
HP:0001367	Abnormal joint morphology	259232	NALCN	ORPHA:371364
HP:0001367	Abnormal joint morphology	259232	NALCN	OMIM:616266
HP:0001367	Abnormal joint morphology	84992	PIGY	OMIM:616809
HP:0001367	Abnormal joint morphology	2617	GARS1	OMIM:619042
HP:0001367	Abnormal joint morphology	26137	ZBTB20	OMIM:259050
HP:0001367	Abnormal joint morphology	26137	ZBTB20	ORPHA:3042
HP:0001367	Abnormal joint morphology	6536	SLC6A9	OMIM:617301
HP:0001367	Abnormal joint morphology	1161	ERCC8	OMIM:216400
HP:0001367	Abnormal joint morphology	7138	TNNT1	ORPHA:98902
HP:0001367	Abnormal joint morphology	7138	TNNT1	OMIM:605355
HP:0001367	Abnormal joint morphology	54681	P4HTM	OMIM:618493
HP:0001367	Abnormal joint morphology	5277	PIGA	OMIM:300868
HP:0001367	Abnormal joint morphology	4632	MYL1	OMIM:618414
HP:0001367	Abnormal joint morphology	3911	LAMA5	OMIM:620076
HP:0001367	Abnormal joint morphology	411	ARSB	OMIM:253200
HP:0001367	Abnormal joint morphology	84667	HES7	OMIM:613686
HP:0001367	Abnormal joint morphology	10992	SF3B2	OMIM:164210
HP:0001367	Abnormal joint morphology	10683	DLL3	OMIM:277300
HP:0001367	Abnormal joint morphology	145873	MESP2	OMIM:277300
HP:0001367	Abnormal joint morphology	3425	IDUA	OMIM:607014
HP:0001367	Abnormal joint morphology	8567	MADD	OMIM:619004
HP:0001367	Abnormal joint morphology	415	ARSL	ORPHA:79345
HP:0001367	Abnormal joint morphology	2887	GRB10	ORPHA:96182
HP:0001367	Abnormal joint morphology	7021	TFAP2B	ORPHA:46627
HP:0001367	Abnormal joint morphology	5144	PDE4D	OMIM:614613
HP:0001367	Abnormal joint morphology	10682	EBP	OMIM:302960
HP:0001367	Abnormal joint morphology	10568	SLC34A2	ORPHA:60025
HP:0001367	Abnormal joint morphology	4088	SMAD3	ORPHA:284984
HP:0001367	Abnormal joint morphology	1280	COL2A1	ORPHA:485
HP:0001367	Abnormal joint morphology	55252	ASXL2	OMIM:617190
HP:0001367	Abnormal joint morphology	27125	AFF4	ORPHA:444077
HP:0001367	Abnormal joint morphology	27125	AFF4	OMIM:616368
HP:0001367	Abnormal joint morphology	55870	ASH1L	OMIM:617796
HP:0001367	Abnormal joint morphology	7862	BRPF1	OMIM:617333
HP:0001367	Abnormal joint morphology	1009	CDH11	OMIM:211380
HP:0001367	Abnormal joint morphology	2131	EXT1	ORPHA:321
HP:0001367	Abnormal joint morphology	2132	EXT2	ORPHA:321
HP:0001367	Abnormal joint morphology	5119	CHMP1A	OMIM:614961
HP:0001367	Abnormal joint morphology	3187	HNRNPH1	OMIM:620083
HP:0001367	Abnormal joint morphology	4125	MAN2B1	ORPHA:309282
HP:0001367	Abnormal joint morphology	4841	NONO	ORPHA:466791
HP:0001367	Abnormal joint morphology	1788	DNMT3A	OMIM:615879
HP:0001367	Abnormal joint morphology	25782	RAB3GAP2	OMIM:212720
HP:0001367	Abnormal joint morphology	3977	LIFR	OMIM:601559
HP:0001367	Abnormal joint morphology	6335	SCN9A	ORPHA:36387
HP:0001367	Abnormal joint morphology	112755	STX1B	ORPHA:36387
HP:0001367	Abnormal joint morphology	2563	GABRD	ORPHA:36387
HP:0001367	Abnormal joint morphology	6326	SCN2A	ORPHA:36387
HP:0001367	Abnormal joint morphology	6323	SCN1A	ORPHA:36387
HP:0001367	Abnormal joint morphology	6324	SCN1B	ORPHA:36387
HP:0001367	Abnormal joint morphology	348980	HCN1	ORPHA:36387
HP:0001367	Abnormal joint morphology	84059	ADGRV1	ORPHA:36387
HP:0001367	Abnormal joint morphology	2566	GABRG2	ORPHA:36387
HP:0001367	Abnormal joint morphology	833	CARS1	OMIM:618891
HP:0001367	Abnormal joint morphology	26229	B3GAT3	OMIM:245600
HP:0001367	Abnormal joint morphology	79989	IFT56	OMIM:619534
HP:0001367	Abnormal joint morphology	84068	SLC10A7	OMIM:618363
HP:0001367	Abnormal joint morphology	347734	SLC35B2	OMIM:620269
HP:0001367	Abnormal joint morphology	10586	MAB21L2	OMIM:615877
HP:0001367	Abnormal joint morphology	3209	HOXA13	ORPHA:2438
HP:0001367	Abnormal joint morphology	387733	IFITM5	OMIM:610967
HP:0001367	Abnormal joint morphology	9499	MYOT	ORPHA:266
HP:0001367	Abnormal joint morphology	8291	DYSF	ORPHA:268
HP:0001367	Abnormal joint morphology	23345	SYNE1	ORPHA:319332
HP:0001367	Abnormal joint morphology	2165	F13B	ORPHA:331
HP:0001367	Abnormal joint morphology	2162	F13A1	ORPHA:331
HP:0001367	Abnormal joint morphology	2162	F13A1	OMIM:613225
HP:0001367	Abnormal joint morphology	2159	F10	OMIM:227600
HP:0001367	Abnormal joint morphology	2159	F10	ORPHA:328
HP:0001367	Abnormal joint morphology	5345	SERPINF2	OMIM:262850
HP:0001367	Abnormal joint morphology	5345	SERPINF2	ORPHA:79
HP:0001367	Abnormal joint morphology	7450	VWF	OMIM:193400
HP:0001367	Abnormal joint morphology	7450	VWF	OMIM:277480
HP:0001367	Abnormal joint morphology	2155	F7	OMIM:227500
HP:0001367	Abnormal joint morphology	2155	F7	ORPHA:327
HP:0001367	Abnormal joint morphology	2677	GGCX	OMIM:277450
HP:0001367	Abnormal joint morphology	2147	F2	OMIM:613679
HP:0001367	Abnormal joint morphology	2147	F2	ORPHA:325
HP:0001367	Abnormal joint morphology	2160	F11	ORPHA:329
HP:0001367	Abnormal joint morphology	2153	F5	ORPHA:326
HP:0001367	Abnormal joint morphology	2158	F9	OMIM:306900
HP:0001367	Abnormal joint morphology	5054	SERPINE1	ORPHA:465
HP:0001367	Abnormal joint morphology	3998	LMAN1	ORPHA:35909
HP:0001367	Abnormal joint morphology	90411	MCFD2	ORPHA:35909
HP:0001367	Abnormal joint morphology	5328	PLAU	OMIM:601709
HP:0001367	Abnormal joint morphology	7020	TFAP2A	OMIM:113620
HP:0001367	Abnormal joint morphology	51082	POLR1D	OMIM:613717
HP:0001367	Abnormal joint morphology	55628	ZNF407	OMIM:619557
HP:0001367	Abnormal joint morphology	23219	FBXO28	OMIM:619777
HP:0001367	Abnormal joint morphology	84265	POLR3GL	OMIM:619234
HP:0001367	Abnormal joint morphology	64324	NSD1	ORPHA:821
HP:0001367	Abnormal joint morphology	29072	SETD2	ORPHA:821
HP:0001367	Abnormal joint morphology	10297	APC2	ORPHA:821
HP:0001367	Abnormal joint morphology	57167	SALL4	ORPHA:233
HP:0001367	Abnormal joint morphology	9935	MAFB	ORPHA:233
HP:0001367	Abnormal joint morphology	1123	CHN1	ORPHA:233
HP:0001367	Abnormal joint morphology	9573	GDF3	ORPHA:2345
HP:0001367	Abnormal joint morphology	392255	GDF6	ORPHA:2345
HP:0001367	Abnormal joint morphology	392255	GDF6	OMIM:118100
HP:0001367	Abnormal joint morphology	4222	MEOX1	ORPHA:2345
HP:0001367	Abnormal joint morphology	168667	BMPER	ORPHA:66637
HP:0001367	Abnormal joint morphology	2245	FGD1	ORPHA:915
HP:0001367	Abnormal joint morphology	2316	FLNA	ORPHA:90650
HP:0001367	Abnormal joint morphology	2316	FLNA	ORPHA:90652
HP:0001367	Abnormal joint morphology	81839	VANGL1	ORPHA:3027
HP:0001367	Abnormal joint morphology	80199	FUZ	ORPHA:3027
HP:0001367	Abnormal joint morphology	3798	KIF5A	ORPHA:100991
HP:0001367	Abnormal joint morphology	64421	DCLRE1C	ORPHA:275
HP:0001367	Abnormal joint morphology	1298	COL9A2	OMIM:600204
HP:0001367	Abnormal joint morphology	5293	PIK3CD	OMIM:619281
HP:0001367	Abnormal joint morphology	1758	DMP1	ORPHA:289176
HP:0001367	Abnormal joint morphology	5167	ENPP1	ORPHA:289176
HP:0001367	Abnormal joint morphology	22861	NLRP1	OMIM:617388
HP:0001367	Abnormal joint morphology	114548	NLRP3	OMIM:191900
HP:0001367	Abnormal joint morphology	7128	TNFAIP3	OMIM:616744
HP:0001367	Abnormal joint morphology	6774	STAT3	OMIM:615952
HP:0001367	Abnormal joint morphology	6583	SLC22A4	OMIM:180300
HP:0001367	Abnormal joint morphology	4261	CIITA	OMIM:180300
HP:0001367	Abnormal joint morphology	51744	CD244	OMIM:180300
HP:0001367	Abnormal joint morphology	4795	NFKBIL1	OMIM:180300
HP:0001367	Abnormal joint morphology	3586	IL10	OMIM:180300
HP:0001367	Abnormal joint morphology	64127	NOD2	ORPHA:90340
HP:0001367	Abnormal joint morphology	9968	MED12	ORPHA:93932
HP:0001367	Abnormal joint morphology	7474	WNT5A	OMIM:180700
HP:0001367	Abnormal joint morphology	1855	DVL1	OMIM:180700
HP:0001367	Abnormal joint morphology	8823	FGF16	OMIM:309630
HP:0001367	Abnormal joint morphology	3239	HOXD13	OMIM:186300
HP:0001367	Abnormal joint morphology	64093	SMOC1	OMIM:206920
HP:0001367	Abnormal joint morphology	51305	KCNK9	ORPHA:166108
HP:0001367	Abnormal joint morphology	1303	COL12A1	ORPHA:536516
HP:0001367	Abnormal joint morphology	22880	MORC2	ORPHA:466768
HP:0001367	Abnormal joint morphology	825	CAPN3	ORPHA:267
HP:0001367	Abnormal joint morphology	2201	FBN2	OMIM:121050
HP:0001367	Abnormal joint morphology	63895	PIEZO2	ORPHA:1154
HP:0001367	Abnormal joint morphology	63895	PIEZO2	OMIM:108145
HP:0001367	Abnormal joint morphology	10216	PRG4	OMIM:208250
HP:0001367	Abnormal joint morphology	113179	ADAT3	ORPHA:363528
HP:0001367	Abnormal joint morphology	7043	TGFB3	OMIM:615582
HP:0001367	Abnormal joint morphology	9241	NOG	ORPHA:3250
HP:0001367	Abnormal joint morphology	9241	NOG	OMIM:185800
HP:0001367	Abnormal joint morphology	8200	GDF5	ORPHA:3250
HP:0001367	Abnormal joint morphology	2737	GLI3	ORPHA:93322
HP:0001367	Abnormal joint morphology	5447	POR	ORPHA:95699
HP:0001367	Abnormal joint morphology	7994	KAT6A	OMIM:616268
HP:0001367	Abnormal joint morphology	54829	ASPN	OMIM:607850
HP:0001367	Abnormal joint morphology	54332	GDAP1	ORPHA:99948
HP:0001367	Abnormal joint morphology	4054	LTBP3	OMIM:617809
HP:0001367	Abnormal joint morphology	10020	GNE	ORPHA:602
HP:0001367	Abnormal joint morphology	23141	ANKLE2	OMIM:616681
HP:0001367	Abnormal joint morphology	8506	CNTNAP1	OMIM:616286
HP:0001367	Abnormal joint morphology	1756	DMD	OMIM:310200
HP:0001367	Abnormal joint morphology	3714	JAG2	OMIM:619566
HP:0001367	Abnormal joint morphology	51506	UFC1	OMIM:618076
HP:0001367	Abnormal joint morphology	2673	GFPT1	ORPHA:353327
HP:0001367	Abnormal joint morphology	1798	DPAGT1	ORPHA:353327
HP:0001367	Abnormal joint morphology	85365	ALG2	ORPHA:353327
HP:0001367	Abnormal joint morphology	85365	ALG2	OMIM:616228
HP:0001367	Abnormal joint morphology	199857	ALG14	ORPHA:353327
HP:0001367	Abnormal joint morphology	23321	TRIM2	OMIM:615490
HP:0001367	Abnormal joint morphology	92255	LMBRD2	OMIM:619694
HP:0001367	Abnormal joint morphology	2010	EMD	OMIM:310300
HP:0001367	Abnormal joint morphology	1954	MEGF8	OMIM:614976
HP:0001367	Abnormal joint morphology	79644	SRD5A3	OMIM:612713
HP:0001367	Abnormal joint morphology	9531	BAG3	OMIM:612954
HP:0001367	Abnormal joint morphology	10613	ERLIN1	ORPHA:401785
HP:0001367	Abnormal joint morphology	2222	FDFT1	OMIM:618156
HP:0001367	Abnormal joint morphology	1376	CPT2	OMIM:608836
HP:0001367	Abnormal joint morphology	5296	PIK3R2	OMIM:603387
HP:0001367	Abnormal joint morphology	339855	KY	ORPHA:496689
HP:0001367	Abnormal joint morphology	6389	SDHA	ORPHA:3208
HP:0001367	Abnormal joint morphology	6390	SDHB	ORPHA:3208
HP:0001367	Abnormal joint morphology	6392	SDHD	ORPHA:3208
HP:0001367	Abnormal joint morphology	644096	SDHAF1	ORPHA:3208
HP:0001367	Abnormal joint morphology	64116	SLC39A8	ORPHA:468699
HP:0001367	Abnormal joint morphology	91137	SLC25A46	OMIM:619303
HP:0001367	Abnormal joint morphology	1140	CHRNB1	OMIM:616313
HP:0001367	Abnormal joint morphology	7415	VCP	ORPHA:435387
HP:0001367	Abnormal joint morphology	2318	FLNC	ORPHA:63273
HP:0001367	Abnormal joint morphology	4233	MET	OMIM:620019
HP:0001367	Abnormal joint morphology	4091	SMAD6	OMIM:179300
HP:0001367	Abnormal joint morphology	2122	MECOM	OMIM:616738
HP:0001367	Abnormal joint morphology	4998	ORC1	OMIM:224690
HP:0001367	Abnormal joint morphology	4998	ORC1	ORPHA:2554
HP:0001367	Abnormal joint morphology	64327	LMBR1	ORPHA:988
HP:0001367	Abnormal joint morphology	64327	LMBR1	OMIM:135750
HP:0001367	Abnormal joint morphology	6469	SHH	ORPHA:988
HP:0001367	Abnormal joint morphology	81620	CDT1	ORPHA:2554
HP:0001367	Abnormal joint morphology	81620	CDT1	OMIM:613804
HP:0001367	Abnormal joint morphology	5000	ORC4	ORPHA:2554
HP:0001367	Abnormal joint morphology	5000	ORC4	OMIM:613800
HP:0001367	Abnormal joint morphology	990	CDC6	ORPHA:2554
HP:0001367	Abnormal joint morphology	990	CDC6	OMIM:613805
HP:0001367	Abnormal joint morphology	51053	GMNN	ORPHA:2554
HP:0001367	Abnormal joint morphology	51053	GMNN	OMIM:616835
HP:0001367	Abnormal joint morphology	29920	PYCR2	ORPHA:481152
HP:0001367	Abnormal joint morphology	9927	MFN2	ORPHA:99947
HP:0001367	Abnormal joint morphology	11160	ERLIN2	ORPHA:280384
HP:0001367	Abnormal joint morphology	11160	ERLIN2	ORPHA:209951
HP:0001367	Abnormal joint morphology	25914	RTTN	ORPHA:468631
HP:0001367	Abnormal joint morphology	1859	DYRK1A	ORPHA:464311
HP:0001367	Abnormal joint morphology	1605	DAG1	OMIM:613818
HP:0001367	Abnormal joint morphology	1605	DAG1	ORPHA:280333
HP:0001367	Abnormal joint morphology	6442	SGCA	OMIM:608099
HP:0001367	Abnormal joint morphology	6840	SVIL	OMIM:619040
HP:0001367	Abnormal joint morphology	6134	RPL10	ORPHA:435938
HP:0001367	Abnormal joint morphology	22978	NT5C2	ORPHA:320396
HP:0001367	Abnormal joint morphology	55958	KLHL9	ORPHA:399081
HP:0001367	Abnormal joint morphology	83636	C19orf12	OMIM:615043
HP:0001367	Abnormal joint morphology	84876	ORAI1	OMIM:615883
HP:0001367	Abnormal joint morphology	163175	LGI4	OMIM:617468
HP:0001367	Abnormal joint morphology	6509	SLC1A4	OMIM:616657
HP:0001367	Abnormal joint morphology	4773	NFATC2	OMIM:620232
HP:0001367	Abnormal joint morphology	87178	PNPT1	ORPHA:319514
HP:0001367	Abnormal joint morphology	26092	TOR1AIP1	OMIM:617072
HP:0001367	Abnormal joint morphology	8813	DPM1	OMIM:608799
HP:0001367	Abnormal joint morphology	210	ALAD	ORPHA:100924
HP:0001367	Abnormal joint morphology	513	ATP5F1D	OMIM:618120
HP:0001367	Abnormal joint morphology	57731	SPTBN4	OMIM:617519
HP:0001367	Abnormal joint morphology	29968	PSAT1	ORPHA:284417
HP:0001367	Abnormal joint morphology	5297	PI4KA	OMIM:619621
HP:0001367	Abnormal joint morphology	497661	C18orf32	OMIM:619985
HP:0001367	Abnormal joint morphology	4703	NEB	ORPHA:399103
HP:0001367	Abnormal joint morphology	7407	VARS1	OMIM:617802
HP:0001367	Abnormal joint morphology	6812	STXBP1	ORPHA:495818
HP:0001367	Abnormal joint morphology	7476	WNT7A	OMIM:276820
HP:0001367	Abnormal joint morphology	145258	GSC	OMIM:602471
HP:0001367	Abnormal joint morphology	65055	REEP1	OMIM:620011
HP:0001367	Abnormal joint morphology	8481	OFD1	ORPHA:2750
HP:0001367	Abnormal joint morphology	90	ACVR1	OMIM:135100
HP:0001367	Abnormal joint morphology	57477	SHROOM4	ORPHA:85288
HP:0001367	Abnormal joint morphology	8218	CLTCL1	ORPHA:453510
HP:0001367	Abnormal joint morphology	1311	COMP	ORPHA:750
HP:0001367	Abnormal joint morphology	2137	EXTL3	ORPHA:508533
HP:0001367	Abnormal joint morphology	1146	CHRNG	OMIM:265000
HP:0001367	Abnormal joint morphology	10717	AP4B1	ORPHA:280763
HP:0001367	Abnormal joint morphology	10717	AP4B1	OMIM:614066
HP:0001367	Abnormal joint morphology	9179	AP4M1	ORPHA:280763
HP:0001367	Abnormal joint morphology	11154	AP4S1	ORPHA:280763
HP:0001367	Abnormal joint morphology	23431	AP4E1	ORPHA:280763
HP:0001367	Abnormal joint morphology	126792	B3GALT6	ORPHA:536467
HP:0001367	Abnormal joint morphology	29928	TIMM22	OMIM:618851
HP:0001367	Abnormal joint morphology	6210	RPS15A	OMIM:618313
HP:0001367	Abnormal joint morphology	9775	EIF4A3	OMIM:268305
HP:0001367	Abnormal joint morphology	25885	POLR1A	OMIM:616462
HP:0001367	Abnormal joint morphology	1836	SLC26A2	ORPHA:93307
HP:0001367	Abnormal joint morphology	2990	GUSB	OMIM:253220
HP:0001367	Abnormal joint morphology	23443	SLC35A3	OMIM:615553
HP:0001367	Abnormal joint morphology	65082	VPS33A	OMIM:617303
HP:0001367	Abnormal joint morphology	84700	MYO18B	OMIM:616549
HP:0001367	Abnormal joint morphology	55681	SCYL2	ORPHA:1143
HP:0001367	Abnormal joint morphology	84570	COL25A1	ORPHA:1143
HP:0001367	Abnormal joint morphology	57222	ERGIC1	ORPHA:1143
HP:0001367	Abnormal joint morphology	4897	NRCAM	OMIM:619833
HP:0001367	Abnormal joint morphology	2720	GLB1	ORPHA:79255
HP:0001367	Abnormal joint morphology	8546	AP3B1	OMIM:608233
HP:0001367	Abnormal joint morphology	1300	COL10A1	OMIM:156500
HP:0001367	Abnormal joint morphology	153642	ARSK	OMIM:619698
HP:0001367	Abnormal joint morphology	4087	SMAD2	OMIM:619656
HP:0001367	Abnormal joint morphology	2487	FRZB	OMIM:165720
HP:0001367	Abnormal joint morphology	10664	CTCF	ORPHA:363611
HP:0001367	Abnormal joint morphology	26053	AUTS2	ORPHA:352490
HP:0001367	Abnormal joint morphology	219854	TMEM218	OMIM:619562
HP:0001367	Abnormal joint morphology	23291	FBXW11	OMIM:618914
HP:0001367	Abnormal joint morphology	79912	PYROXD1	OMIM:617258
HP:0001367	Abnormal joint morphology	9757	KMT2B	OMIM:619934
HP:0001367	Abnormal joint morphology	3720	JARID2	OMIM:620098
HP:0001367	Abnormal joint morphology	10765	KDM5B	OMIM:618109
HP:0001367	Abnormal joint morphology	10093	ARPC4	OMIM:620141
HP:0001367	Abnormal joint morphology	25942	SIN3A	OMIM:613406
HP:0001367	Abnormal joint morphology	11011	TLK2	OMIM:618050
HP:0001367	Abnormal joint morphology	6909	TBX2	OMIM:618223
HP:0001367	Abnormal joint morphology	80816	ASXL3	OMIM:615485
HP:0001367	Abnormal joint morphology	81857	MED25	ORPHA:464738
HP:0001367	Abnormal joint morphology	1718	DHCR24	OMIM:602398
HP:0001367	Abnormal joint morphology	1001	CDH3	OMIM:225280
HP:0001367	Abnormal joint morphology	5830	PEX5	OMIM:214110
HP:0001367	Abnormal joint morphology	79932	KIAA0319L	ORPHA:220402
HP:0001367	Abnormal joint morphology	139285	AMER1	OMIM:300373
HP:0001367	Abnormal joint morphology	8626	TP63	OMIM:603543
HP:0001367	Abnormal joint morphology	7390	UROS	OMIM:263700
HP:0001367	Abnormal joint morphology	1272	CNTN1	OMIM:612540
HP:0001367	Abnormal joint morphology	10195	ALG3	OMIM:601110
HP:0001367	Abnormal joint morphology	57449	PLEKHG5	OMIM:611067
HP:0001367	Abnormal joint morphology	23327	NEDD4L	OMIM:617201
HP:0001367	Abnormal joint morphology	8985	PLOD3	OMIM:612394
HP:0001367	Abnormal joint morphology	1889	ECE1	OMIM:613870
HP:0001367	Abnormal joint morphology	10084	PQBP1	OMIM:309500
HP:0001367	Abnormal joint morphology	2254	FGF9	OMIM:612961
HP:0001367	Abnormal joint morphology	4038	LRP4	OMIM:212780
HP:0001367	Abnormal joint morphology	7291	TWIST1	ORPHA:35099
HP:0001367	Abnormal joint morphology	6938	TCF12	ORPHA:35099
HP:0001367	Abnormal joint morphology	7545	ZIC1	ORPHA:35099
HP:0001367	Abnormal joint morphology	22856	CHSY1	OMIM:605282
HP:0001367	Abnormal joint morphology	5077	PAX3	OMIM:148820
HP:0001367	Abnormal joint morphology	658	BMPR1B	OMIM:609441
HP:0001367	Abnormal joint morphology	2192	FBLN1	OMIM:608180
HP:0001367	Abnormal joint morphology	3664	IRF6	OMIM:119500
HP:0001367	Abnormal joint morphology	10265	IRX5	OMIM:611174
HP:0001367	Abnormal joint morphology	3481	IGF2	OMIM:616489
HP:0001367	Abnormal joint morphology	9928	KIF14	OMIM:616258
HP:0001367	Abnormal joint morphology	1593	CYP27A1	ORPHA:909
HP:0001367	Abnormal joint morphology	2733	GLE1	ORPHA:1486
HP:0001367	Abnormal joint morphology	4297	KMT2A	ORPHA:319182
HP:0001367	Abnormal joint morphology	1294	COL7A1	ORPHA:158673
HP:0001367	Abnormal joint morphology	1294	COL7A1	ORPHA:89843
HP:0001367	Abnormal joint morphology	8036	SHOC2	ORPHA:2701
HP:0001367	Abnormal joint morphology	5500	PPP1CB	ORPHA:2701
HP:0001367	Abnormal joint morphology	727857	BHLHA9	OMIM:609432
HP:0001367	Abnormal joint morphology	57728	WDR19	OMIM:614376
HP:0001367	Abnormal joint morphology	79659	DYNC2H1	OMIM:613091
HP:0001367	Abnormal joint morphology	55112	DYNC2I1	OMIM:615503
HP:0001367	Abnormal joint morphology	55835	CENPJ	OMIM:613676
HP:0001367	Abnormal joint morphology	51256	TBC1D7	OMIM:248000
HP:0001367	Abnormal joint morphology	5159	PDGFRB	OMIM:601812
HP:0001367	Abnormal joint morphology	7337	UBE3A	ORPHA:98794
HP:0001367	Abnormal joint morphology	4948	OCA2	ORPHA:98794
HP:0001367	Abnormal joint morphology	123606	NIPA1	ORPHA:100988
HP:0001367	Abnormal joint morphology	85465	SELENOI	ORPHA:506353
HP:0001367	Abnormal joint morphology	85465	SELENOI	OMIM:618768
HP:0001367	Abnormal joint morphology	4728	NDUFS8	OMIM:618222
HP:0001367	Abnormal joint morphology	10159	ATP6AP2	ORPHA:363654
HP:0001367	Abnormal joint morphology	6683	SPAST	ORPHA:100985
HP:0001367	Abnormal joint morphology	51604	PIGT	OMIM:615398
HP:0001367	Abnormal joint morphology	9420	CYP7B1	ORPHA:100986
HP:0001367	Abnormal joint morphology	23516	SLC39A14	OMIM:617013
HP:0001367	Abnormal joint morphology	23516	SLC39A14	ORPHA:521406
HP:0001367	Abnormal joint morphology	22931	RAB18	OMIM:614222
HP:0001367	Abnormal joint morphology	3839	KPNA3	OMIM:620106
HP:0001367	Abnormal joint morphology	959	CD40LG	OMIM:308230
HP:0001367	Abnormal joint morphology	64837	KLC2	OMIM:609541
HP:0001367	Abnormal joint morphology	2258	FGF13	OMIM:301058
HP:0001367	Abnormal joint morphology	440193	CCDC88C	OMIM:616053
HP:0001367	Abnormal joint morphology	6647	SOD1	OMIM:618598
HP:0001367	Abnormal joint morphology	6253	RTN2	OMIM:604805
HP:0001367	Abnormal joint morphology	84340	GFM2	OMIM:618397
HP:0001367	Abnormal joint morphology	84340	GFM2	ORPHA:565624
HP:0001367	Abnormal joint morphology	79152	FA2H	ORPHA:171629
HP:0001367	Abnormal joint morphology	79152	FA2H	OMIM:612319
HP:0001367	Abnormal joint morphology	10273	STUB1	OMIM:615768
HP:0001367	Abnormal joint morphology	10273	STUB1	ORPHA:412057
HP:0001367	Abnormal joint morphology	9409	PEX16	OMIM:614877
HP:0001367	Abnormal joint morphology	9338	TCEAL1	OMIM:301094
HP:0001367	Abnormal joint morphology	5456	POU3F4	ORPHA:1435
HP:0001367	Abnormal joint morphology	55129	ANO10	ORPHA:284289
HP:0001367	Abnormal joint morphology	219285	SAMD9L	OMIM:159550
HP:0001367	Abnormal joint morphology	9289	ADGRG1	OMIM:606854
HP:0001367	Abnormal joint morphology	7345	UCHL1	OMIM:615491
HP:0001367	Abnormal joint morphology	215	ABCD1	ORPHA:139396
HP:0001367	Abnormal joint morphology	3064	HTT	OMIM:617435
HP:0001367	Abnormal joint morphology	118813	ZFYVE27	OMIM:610244
HP:0001367	Abnormal joint morphology	57704	GBA2	OMIM:614409
HP:0001367	Abnormal joint morphology	2581	GALC	ORPHA:206436
HP:0001367	Abnormal joint morphology	5660	PSAP	ORPHA:206436
HP:0001367	Abnormal joint morphology	1678	TIMM8A	ORPHA:52368
HP:0001367	Abnormal joint morphology	6567	SLC16A2	ORPHA:59
HP:0001367	Abnormal joint morphology	6712	SPTBN2	OMIM:600224
HP:0001367	Abnormal joint morphology	823	CAPN1	ORPHA:488594
HP:0001367	Abnormal joint morphology	10749	KIF1C	OMIM:611302
HP:0001367	Abnormal joint morphology	8398	PLA2G6	OMIM:612953
HP:0001367	Abnormal joint morphology	113278	SLC52A3	OMIM:211530
HP:0001367	Abnormal joint morphology	64412	GZF1	OMIM:617662
HP:0001367	Abnormal joint morphology	342035	GLDN	OMIM:617194
HP:0001367	Abnormal joint morphology	28982	FLVCR1	ORPHA:88628
HP:0001367	Abnormal joint morphology	28982	FLVCR1	OMIM:609033
HP:0001367	Abnormal joint morphology	4747	NEFL	ORPHA:101085
HP:0001367	Abnormal joint morphology	57187	THOC2	OMIM:300957
HP:0001367	Abnormal joint morphology	51608	GET4	OMIM:620200
HP:0001367	Abnormal joint morphology	28962	OSTM1	OMIM:259720
HP:0001367	Abnormal joint morphology	84823	LMNB2	OMIM:619180
HP:0001367	Abnormal joint morphology	51112	TRAPPC12	ORPHA:500144
HP:0001367	Abnormal joint morphology	7319	UBE2A	ORPHA:163956
HP:0001367	Abnormal joint morphology	2588	GALNS	OMIM:253000
HP:0001367	Abnormal joint morphology	9131	AIFM1	ORPHA:83629
HP:0001367	Abnormal joint morphology	375056	MIA3	OMIM:619269
HP:0001367	Abnormal joint morphology	3417	IDH1	ORPHA:99646
HP:0001367	Abnormal joint morphology	4000	LMNA	OMIM:212112
HP:0001367	Abnormal joint morphology	1278	COL1A2	ORPHA:230851
HP:0001367	Abnormal joint morphology	113189	CHST14	ORPHA:2953
HP:0001367	Abnormal joint morphology	29940	DSE	ORPHA:2953
HP:0001367	Abnormal joint morphology	1277	COL1A1	OMIM:619115
HP:0001367	Abnormal joint morphology	10526	IPO8	OMIM:619472
HP:0001367	Abnormal joint morphology	7148	TNXB	OMIM:606408
HP:0001367	Abnormal joint morphology	23586	RIGI	OMIM:616298
HP:0001367	Abnormal joint morphology	9851	KIAA0753	OMIM:619479
HP:0001367	Abnormal joint morphology	64423	INF2	OMIM:614455
HP:0001367	Abnormal joint morphology	10280	SIGMAR1	OMIM:605726
HP:0001367	Abnormal joint morphology	10397	NDRG1	OMIM:601455
HP:0001367	Abnormal joint morphology	3315	HSPB1	OMIM:606595
HP:0001367	Abnormal joint morphology	8566	PDXK	OMIM:618511
HP:0001367	Abnormal joint morphology	255758	DYNLT2B	OMIM:617405
HP:0001367	Abnormal joint morphology	71	ACTG1	ORPHA:2995
HP:0001367	Abnormal joint morphology	60	ACTB	ORPHA:2995
HP:0001367	Abnormal joint morphology	9051	PSTPIP1	OMIM:604416
HP:0001367	Abnormal joint morphology	7132	TNFRSF1A	OMIM:142680
HP:0001367	Abnormal joint morphology	26525	IL36RN	OMIM:614204
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:85408
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:85410
HP:0001367	Abnormal joint morphology	3560	IL2RB	ORPHA:85408
HP:0001367	Abnormal joint morphology	3560	IL2RB	ORPHA:85410
HP:0001367	Abnormal joint morphology	79722	ANKRD55	ORPHA:85408
HP:0001367	Abnormal joint morphology	79722	ANKRD55	ORPHA:85410
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:85408
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:85410
HP:0001367	Abnormal joint morphology	919	CD247	ORPHA:85408
HP:0001367	Abnormal joint morphology	919	CD247	ORPHA:85410
HP:0001367	Abnormal joint morphology	3559	IL2RA	ORPHA:85408
HP:0001367	Abnormal joint morphology	3559	IL2RA	ORPHA:85410
HP:0001367	Abnormal joint morphology	5771	PTPN2	ORPHA:85408
HP:0001367	Abnormal joint morphology	5771	PTPN2	ORPHA:85410
HP:0001367	Abnormal joint morphology	4210	MEFV	ORPHA:3243
HP:0001367	Abnormal joint morphology	10043	TOM1	OMIM:619510
HP:0001367	Abnormal joint morphology	3106	HLA-B	OMIM:106300
HP:0001367	Abnormal joint morphology	2218	FKTN	ORPHA:272
HP:0001367	Abnormal joint morphology	8294	H4C9	OMIM:619951
HP:0001367	Abnormal joint morphology	3094	HINT1	ORPHA:324442
HP:0001367	Abnormal joint morphology	7355	SLC35A2	ORPHA:356961
HP:0001367	Abnormal joint morphology	118429	ANTXR2	ORPHA:2176
HP:0001367	Abnormal joint morphology	54968	TMEM70	ORPHA:1194
HP:0001367	Abnormal joint morphology	613	BCR	ORPHA:261330
HP:0001367	Abnormal joint morphology	1399	CRKL	ORPHA:261330
HP:0001367	Abnormal joint morphology	84466	MEGF10	OMIM:614399
HP:0001367	Abnormal joint morphology	72	ACTG2	ORPHA:2604
HP:0001367	Abnormal joint morphology	3508	IGHMBP2	OMIM:604320
HP:0001367	Abnormal joint morphology	51360	MBTPS2	ORPHA:2273
HP:0001367	Abnormal joint morphology	10716	TBR1	ORPHA:1617
HP:0001367	Abnormal joint morphology	56006	SMG9	OMIM:616920
HP:0001367	Abnormal joint morphology	9508	ADAMTS3	ORPHA:2136
HP:0001367	Abnormal joint morphology	147372	CCBE1	ORPHA:2136
HP:0001367	Abnormal joint morphology	79633	FAT4	ORPHA:2136
HP:0001367	Abnormal joint morphology	5189	PEX1	ORPHA:3220
HP:0001367	Abnormal joint morphology	5190	PEX6	ORPHA:3220
HP:0001367	Abnormal joint morphology	5590	PRKCZ	ORPHA:1606
HP:0001367	Abnormal joint morphology	23013	SPEN	ORPHA:1606
HP:0001367	Abnormal joint morphology	8510	MMP23B	ORPHA:1606
HP:0001367	Abnormal joint morphology	7798	LUZP1	ORPHA:1606
HP:0001367	Abnormal joint morphology	10630	PDPN	ORPHA:1606
HP:0001367	Abnormal joint morphology	10277	UBE4B	ORPHA:1606
HP:0001367	Abnormal joint morphology	8514	KCNAB2	ORPHA:1606
HP:0001367	Abnormal joint morphology	473	RERE	ORPHA:1606
HP:0001367	Abnormal joint morphology	63976	PRDM16	ORPHA:1606
HP:0001367	Abnormal joint morphology	54897	CASZ1	ORPHA:1606
HP:0001367	Abnormal joint morphology	8517	IKBKG	ORPHA:464
HP:0001367	Abnormal joint morphology	55612	FERMT1	ORPHA:2908
HP:0001367	Abnormal joint morphology	4604	MYBPC1	ORPHA:1146
HP:0001367	Abnormal joint morphology	8726	EED	ORPHA:3447
HP:0001367	Abnormal joint morphology	23512	SUZ12	ORPHA:3447
HP:0001367	Abnormal joint morphology	257	ALX3	ORPHA:391474
HP:0001367	Abnormal joint morphology	54903	MKS1	OMIM:249000
HP:0001367	Abnormal joint morphology	22930	RAB3GAP1	OMIM:619420
HP:0001367	Abnormal joint morphology	27238	GPKOW	ORPHA:2570
HP:0001367	Abnormal joint morphology	10466	COG5	ORPHA:263487
HP:0001367	Abnormal joint morphology	55315	SLC29A3	OMIM:602782
HP:0001367	Abnormal joint morphology	23102	TBC1D2B	OMIM:619323
HP:0001367	Abnormal joint morphology	51114	ZDHHC9	ORPHA:776
HP:0001367	Abnormal joint morphology	65109	UPF3B	ORPHA:776
HP:0001367	Abnormal joint morphology	2074	ERCC6	ORPHA:1466
HP:0001367	Abnormal joint morphology	134701	RIPPLY2	ORPHA:2311
HP:0001367	Abnormal joint morphology	3955	LFNG	ORPHA:2311
HP:0001367	Abnormal joint morphology	54880	BCOR	ORPHA:568
HP:0001367	Abnormal joint morphology	3914	LAMB3	OMIM:226650
HP:0001367	Abnormal joint morphology	9150	CTDP1	ORPHA:48431
HP:0001367	Abnormal joint morphology	8092	ALX1	ORPHA:306542
HP:0001367	Abnormal joint morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001367	Abnormal joint morphology	28952	CCDC22	OMIM:300963
HP:0001367	Abnormal joint morphology	8450	CUL4B	ORPHA:85293
HP:0001367	Abnormal joint morphology	8242	KDM5C	ORPHA:85279
HP:0001367	Abnormal joint morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001367	Abnormal joint morphology	51002	TPRKB	ORPHA:2065
HP:0001367	Abnormal joint morphology	84942	WDR73	ORPHA:2065
HP:0001367	Abnormal joint morphology	55644	OSGEP	ORPHA:2065
HP:0001367	Abnormal joint morphology	57122	NUP107	ORPHA:2065
HP:0001367	Abnormal joint morphology	10785	WDR4	ORPHA:2065
HP:0001367	Abnormal joint morphology	55746	NUP133	ORPHA:2065
HP:0001367	Abnormal joint morphology	112858	TP53RK	ORPHA:2065
HP:0001367	Abnormal joint morphology	8270	LAGE3	ORPHA:2065
HP:0001367	Abnormal joint morphology	5696	PSMB8	OMIM:256040
HP:0001367	Abnormal joint morphology	56916	SMARCAD1	ORPHA:1658
HP:0001367	Abnormal joint morphology	11128	POLR3A	ORPHA:3455
HP:0001367	Abnormal joint morphology	5604	MAP2K1	OMIM:163950
HP:0001367	Abnormal joint morphology	673	BRAF	OMIM:163950
HP:0001367	Abnormal joint morphology	3373	HYAL1	OMIM:601492
HP:0001367	Abnormal joint morphology	117581	TWIST2	ORPHA:1807
HP:0001997	Gout	51726	DNAJB11	OMIM:618061
HP:0001997	Gout	3251	HPRT1	ORPHA:510
HP:0001997	Gout	3251	HPRT1	ORPHA:79233
HP:0001997	Gout	7369	UMOD	OMIM:162000
HP:0001997	Gout	5631	PRPS1	OMIM:300661
HP:0001997	Gout	5631	PRPS1	ORPHA:411543
HP:0001997	Gout	6928	HNF1B	OMIM:137920
HP:0001997	Gout	29927	SEC61A1	OMIM:617056
HP:0001997	Gout	2538	G6PC1	OMIM:232200
HP:0001997	Gout	5213	PFKM	OMIM:232800
HP:0001997	Gout	4582	MUC1	OMIM:174000
HP:0001997	Gout	1188	CLCNKB	ORPHA:358
HP:0001997	Gout	6559	SLC12A3	ORPHA:358
HP:0001997	Gout	2542	SLC37A4	OMIM:232220
HP:0001997	Gout	2542	SLC37A4	OMIM:232240
HP:0001997	Gout	2542	SLC37A4	ORPHA:79259
HP:0001997	Gout	348	APOE	ORPHA:412
HP:0001997	Gout	2038	EPB42	ORPHA:822
HP:0001997	Gout	6521	SLC4A1	ORPHA:822
HP:0001997	Gout	6710	SPTB	ORPHA:822
HP:0001997	Gout	6708	SPTA1	ORPHA:822
HP:0001997	Gout	286	ANK1	ORPHA:822
HP:0001997	Gout	4040	LRP6	OMIM:610947
HP:0001369	Arthritis	8974	P4HA2	ORPHA:397
HP:0001369	Arthritis	355	FAS	ORPHA:3261
HP:0001369	Arthritis	355	FAS	ORPHA:117
HP:0001369	Arthritis	356	FASLG	ORPHA:3261
HP:0001369	Arthritis	5580	PRKCD	ORPHA:3261
HP:0001369	Arthritis	5580	PRKCD	OMIM:615559
HP:0001369	Arthritis	843	CASP10	ORPHA:3261
HP:0001369	Arthritis	10125	RASGRP1	ORPHA:3261
HP:0001369	Arthritis	114548	NLRP3	OMIM:617772
HP:0001369	Arthritis	114548	NLRP3	ORPHA:575
HP:0001369	Arthritis	114548	NLRP3	ORPHA:47045
HP:0001369	Arthritis	114548	NLRP3	OMIM:607115
HP:0001369	Arthritis	114548	NLRP3	OMIM:120100
HP:0001369	Arthritis	4598	MVK	OMIM:260920
HP:0001369	Arthritis	4598	MVK	ORPHA:343
HP:0001369	Arthritis	4010	LMX1B	ORPHA:2614
HP:0001369	Arthritis	4072	EPCAM	OMIM:613217
HP:0001369	Arthritis	4072	EPCAM	ORPHA:92050
HP:0001369	Arthritis	987	LRBA	OMIM:614700
HP:0001369	Arthritis	6696	SPP1	ORPHA:93552
HP:0001369	Arthritis	3654	IRAK1	ORPHA:93552
HP:0001369	Arthritis	148738	HJV	OMIM:602390
HP:0001369	Arthritis	50943	FOXP3	OMIM:304790
HP:0001369	Arthritis	56983	POGLUT1	ORPHA:79145
HP:0001369	Arthritis	3852	KRT5	ORPHA:79145
HP:0001369	Arthritis	23509	POFUT1	ORPHA:79145
HP:0001369	Arthritis	55851	PSENEN	ORPHA:79145
HP:0001369	Arthritis	1776	DNASE1L3	ORPHA:36412
HP:0001369	Arthritis	5896	RAG1	OMIM:601457
HP:0001369	Arthritis	5897	RAG2	OMIM:601457
HP:0001369	Arthritis	7317	UBA1	OMIM:301054
HP:0001369	Arthritis	7018	TF	ORPHA:1195
HP:0001369	Arthritis	3930	LBR	ORPHA:779
HP:0001369	Arthritis	4952	OCRL	ORPHA:534
HP:0001369	Arthritis	427	ASAH1	ORPHA:333
HP:0001369	Arthritis	427	ASAH1	OMIM:228000
HP:0001369	Arthritis	105371045	PERCC1	ORPHA:92050
HP:0001369	Arthritis	1493	CTLA4	OMIM:616100
HP:0001369	Arthritis	1493	CTLA4	OMIM:152700
HP:0001369	Arthritis	3107	HLA-C	OMIM:177900
HP:0001369	Arthritis	3423	IDS	ORPHA:217085
HP:0001369	Arthritis	3423	IDS	ORPHA:217093
HP:0001369	Arthritis	1312	COMT	ORPHA:567
HP:0001369	Arthritis	221037	JMJD1C	ORPHA:567
HP:0001369	Arthritis	2812	GP1BB	ORPHA:567
HP:0001369	Arthritis	6239	RREB1	ORPHA:567
HP:0001369	Arthritis	6899	TBX1	ORPHA:567
HP:0001369	Arthritis	7290	HIRA	ORPHA:567
HP:0001369	Arthritis	9632	SEC24C	ORPHA:567
HP:0001369	Arthritis	7353	UFD1	ORPHA:567
HP:0001369	Arthritis	421	ARVCF	ORPHA:567
HP:0001369	Arthritis	2717	GLA	ORPHA:324
HP:0001369	Arthritis	6578	SLCO2A1	ORPHA:2796
HP:0001369	Arthritis	4313	MMP2	ORPHA:371428
HP:0001369	Arthritis	4323	MMP14	ORPHA:371428
HP:0001369	Arthritis	2131	EXT1	ORPHA:321
HP:0001369	Arthritis	2132	EXT2	ORPHA:321
HP:0001369	Arthritis	64127	NOD2	OMIM:186580
HP:0001369	Arthritis	64127	NOD2	OMIM:617321
HP:0001369	Arthritis	23230	VPS13A	ORPHA:2388
HP:0001369	Arthritis	175	AGA	ORPHA:93
HP:0001369	Arthritis	10804	GJB6	ORPHA:477
HP:0001369	Arthritis	2706	GJB2	ORPHA:477
HP:0001369	Arthritis	30011	SH3KBP1	OMIM:300310
HP:0001369	Arthritis	79784	MYH14	ORPHA:397744
HP:0001369	Arthritis	3236	HOXD10	OMIM:192950
HP:0001369	Arthritis	7454	WAS	ORPHA:906
HP:0001369	Arthritis	7456	WIPF1	ORPHA:906
HP:0001369	Arthritis	5293	PIK3CD	ORPHA:221139
HP:0001369	Arthritis	5293	PIK3CD	OMIM:613328
HP:0001369	Arthritis	90417	KNSTRN	ORPHA:221139
HP:0001369	Arthritis	90417	KNSTRN	OMIM:613328
HP:0001369	Arthritis	7036	TFR2	OMIM:604250
HP:0001369	Arthritis	1314	COPA	OMIM:616414
HP:0001369	Arthritis	51816	ADA2	OMIM:615688
HP:0001369	Arthritis	64135	IFIH1	OMIM:615846
HP:0001369	Arthritis	64135	IFIH1	ORPHA:51
HP:0001369	Arthritis	91662	NLRP12	OMIM:611762
HP:0001369	Arthritis	2263	FGFR2	ORPHA:2363
HP:0001369	Arthritis	2255	FGF10	ORPHA:2363
HP:0001369	Arthritis	3662	IRF4	ORPHA:3452
HP:0001369	Arthritis	5692	PSMB4	OMIM:617591
HP:0001369	Arthritis	5698	PSMB9	OMIM:617591
HP:0001369	Arthritis	654	BMP6	ORPHA:465508
HP:0001369	Arthritis	3077	HFE	ORPHA:465508
HP:0001369	Arthritis	3593	IL12B	ORPHA:3287
HP:0001369	Arthritis	6945	MLX	ORPHA:3287
HP:0001369	Arthritis	23592	LEMD3	ORPHA:1306
HP:0001369	Arthritis	64241	ABCG8	OMIM:210250
HP:0001369	Arthritis	6850	SYK	OMIM:619381
HP:0001369	Arthritis	2000	ELF4	OMIM:301074
HP:0001369	Arthritis	79875	THSD4	OMIM:619825
HP:0001369	Arthritis	2212	FCGR2A	OMIM:152700
HP:0001369	Arthritis	2213	FCGR2B	OMIM:152700
HP:0001369	Arthritis	11277	TREX1	OMIM:152700
HP:0001369	Arthritis	11277	TREX1	ORPHA:51
HP:0001369	Arthritis	1773	DNASE1	OMIM:152700
HP:0001369	Arthritis	1235	CCR6	ORPHA:220393
HP:0001369	Arthritis	1490	CCN2	ORPHA:220393
HP:0001369	Arthritis	3663	IRF5	ORPHA:220393
HP:0001369	Arthritis	857	CAV1	ORPHA:220393
HP:0001369	Arthritis	10535	RNASEH2A	ORPHA:51
HP:0001369	Arthritis	84153	RNASEH2C	ORPHA:51
HP:0001369	Arthritis	25939	SAMHD1	ORPHA:51
HP:0001369	Arthritis	79621	RNASEH2B	ORPHA:51
HP:0001369	Arthritis	103	ADAR	ORPHA:51
HP:0001369	Arthritis	100147744	RNU7-1	ORPHA:51
HP:0001369	Arthritis	134353	LSM11	ORPHA:51
HP:0001369	Arthritis	165918	RNF168	ORPHA:420741
HP:0001369	Arthritis	6929	TCF3	ORPHA:33110
HP:0001369	Arthritis	973	CD79A	ORPHA:33110
HP:0001369	Arthritis	974	CD79B	ORPHA:33110
HP:0001369	Arthritis	3543	IGLL1	ORPHA:33110
HP:0001369	Arthritis	3507	IGHM	ORPHA:33110
HP:0001369	Arthritis	29760	BLNK	ORPHA:33110
HP:0001369	Arthritis	5295	PIK3R1	ORPHA:33110
HP:0001369	Arthritis	56262	LRRC8A	ORPHA:33110
HP:0001369	Arthritis	149233	IL23R	ORPHA:117
HP:0001369	Arthritis	1230	CCR1	ORPHA:117
HP:0001369	Arthritis	3592	IL12A	ORPHA:117
HP:0001369	Arthritis	101928376	IL12A-AS1	ORPHA:117
HP:0001369	Arthritis	7099	TLR4	ORPHA:117
HP:0001369	Arthritis	3459	IFNGR1	ORPHA:117
HP:0001369	Arthritis	720	C4A	ORPHA:117
HP:0001369	Arthritis	337867	UBAC2	ORPHA:117
HP:0001369	Arthritis	51752	ERAP1	ORPHA:117
HP:0001369	Arthritis	8302	KLRC4	ORPHA:117
HP:0001369	Arthritis	54	ACP5	OMIM:607944
HP:0001369	Arthritis	6775	STAT4	ORPHA:85410
HP:0001369	Arthritis	3560	IL2RB	ORPHA:85410
HP:0001369	Arthritis	79722	ANKRD55	ORPHA:85410
HP:0001369	Arthritis	26191	PTPN22	ORPHA:85410
HP:0001369	Arthritis	26191	PTPN22	OMIM:180300
HP:0001369	Arthritis	919	CD247	ORPHA:85410
HP:0001369	Arthritis	3559	IL2RA	ORPHA:85410
HP:0001369	Arthritis	5771	PTPN2	ORPHA:85410
HP:0001369	Arthritis	2643	GCH1	ORPHA:98808
HP:0001369	Arthritis	4929	NR4A2	ORPHA:98808
HP:0001369	Arthritis	3615	IMPDH2	ORPHA:98808
HP:0001369	Arthritis	6583	SLC22A4	OMIM:180300
HP:0001369	Arthritis	4261	CIITA	OMIM:180300
HP:0001369	Arthritis	51744	CD244	OMIM:180300
HP:0001369	Arthritis	4795	NFKBIL1	OMIM:180300
HP:0001369	Arthritis	3586	IL10	OMIM:180300
HP:0001369	Arthritis	3514	IGKC	ORPHA:183675
HP:0001369	Arthritis	3501	IGHG2	ORPHA:183675
HP:0001369	Arthritis	51726	DNAJB11	OMIM:618061
HP:0001369	Arthritis	3251	HPRT1	ORPHA:510
HP:0001369	Arthritis	3251	HPRT1	ORPHA:79233
HP:0001369	Arthritis	7369	UMOD	OMIM:162000
HP:0001369	Arthritis	5631	PRPS1	OMIM:300661
HP:0001369	Arthritis	5631	PRPS1	ORPHA:411543
HP:0001369	Arthritis	6928	HNF1B	OMIM:137920
HP:0001369	Arthritis	29927	SEC61A1	OMIM:617056
HP:0001369	Arthritis	2538	G6PC1	OMIM:232200
HP:0001369	Arthritis	5213	PFKM	OMIM:232800
HP:0001369	Arthritis	4582	MUC1	OMIM:174000
HP:0001369	Arthritis	1188	CLCNKB	ORPHA:358
HP:0001369	Arthritis	6559	SLC12A3	ORPHA:358
HP:0001369	Arthritis	2542	SLC37A4	OMIM:232220
HP:0001369	Arthritis	2542	SLC37A4	OMIM:232240
HP:0001369	Arthritis	2542	SLC37A4	ORPHA:79259
HP:0001369	Arthritis	348	APOE	ORPHA:412
HP:0001369	Arthritis	2038	EPB42	ORPHA:822
HP:0001369	Arthritis	6521	SLC4A1	ORPHA:822
HP:0001369	Arthritis	6710	SPTB	ORPHA:822
HP:0001369	Arthritis	6708	SPTA1	ORPHA:822
HP:0001369	Arthritis	286	ANK1	ORPHA:822
HP:0001369	Arthritis	4040	LRP6	OMIM:610947
HP:0001369	Arthritis	1311	COMP	ORPHA:750
HP:0001369	Arthritis	1311	COMP	OMIM:177170
HP:0001369	Arthritis	1311	COMP	ORPHA:93308
HP:0001369	Arthritis	8838	CCN6	OMIM:208230
HP:0001369	Arthritis	3703	STT3A	OMIM:619714
HP:0001369	Arthritis	2261	FGFR3	ORPHA:429
HP:0001369	Arthritis	3248	HPGD	ORPHA:1525
HP:0001369	Arthritis	2158	F9	OMIM:306900
HP:0001369	Arthritis	4000	LMNA	ORPHA:740
HP:0001369	Arthritis	10269	ZMPSTE24	ORPHA:740
HP:0001369	Arthritis	2157	F8	OMIM:306700
HP:0001369	Arthritis	1289	COL5A1	OMIM:130000
HP:0001369	Arthritis	1289	COL5A1	ORPHA:287
HP:0001369	Arthritis	1299	COL9A3	OMIM:600969
HP:0001369	Arthritis	1299	COL9A3	ORPHA:166002
HP:0001369	Arthritis	540	ATP7B	OMIM:277900
HP:0001369	Arthritis	30061	SLC40A1	OMIM:606069
HP:0001369	Arthritis	2778	GNAS	ORPHA:2762
HP:0001369	Arthritis	124583	CANT1	OMIM:251450
HP:0001369	Arthritis	1297	COL9A1	ORPHA:166002
HP:0001369	Arthritis	1297	COL9A1	OMIM:614135
HP:0001369	Arthritis	5251	PHEX	OMIM:307800
HP:0001369	Arthritis	11117	EMILIN1	OMIM:620080
HP:0001369	Arthritis	56172	ANKH	OMIM:118600
HP:0001369	Arthritis	56172	ANKH	ORPHA:1416
HP:0001369	Arthritis	165	AEBP1	OMIM:618000
HP:0001369	Arthritis	55325	UFSP2	ORPHA:2114
HP:0001369	Arthritis	55325	UFSP2	OMIM:142669
HP:0001369	Arthritis	83550	GPR101	ORPHA:963
HP:0001369	Arthritis	9049	AIP	ORPHA:963
HP:0001369	Arthritis	3081	HGD	ORPHA:56
HP:0001369	Arthritis	1290	COL5A2	ORPHA:287
HP:0001369	Arthritis	1186	CLCN7	ORPHA:53
HP:0001369	Arthritis	1281	COL3A1	ORPHA:286
HP:0001369	Arthritis	7043	TGFB3	OMIM:615582
HP:0001369	Arthritis	406932	MIR140	OMIM:618618
HP:0001369	Arthritis	7227	TRPS1	OMIM:190350
HP:0001369	Arthritis	57592	ZNF687	OMIM:616833
HP:0001369	Arthritis	4982	TNFRSF11B	ORPHA:1416
HP:0001369	Arthritis	2690	GHR	ORPHA:633
HP:0001369	Arthritis	2629	GBA1	ORPHA:77259
HP:0001369	Arthritis	950	SCARB2	ORPHA:77259
HP:0001369	Arthritis	1302	COL11A2	OMIM:184840
HP:0001369	Arthritis	1302	COL11A2	OMIM:215150
HP:0001369	Arthritis	3835	KIF22	ORPHA:93360
HP:0001369	Arthritis	6399	TRAPPC2	ORPHA:93284
HP:0001369	Arthritis	1277	COL1A1	OMIM:130060
HP:0001369	Arthritis	2200	FBN1	OMIM:154700
HP:0001369	Arthritis	1836	SLC26A2	ORPHA:93307
HP:0001369	Arthritis	65992	DDRGK1	ORPHA:93352
HP:0001369	Arthritis	176	ACAN	OMIM:165800
HP:0001369	Arthritis	4914	NTRK1	ORPHA:642
HP:0001369	Arthritis	695	BTK	OMIM:300755
HP:0001369	Arthritis	695	BTK	OMIM:307200
HP:0001369	Arthritis	4522	MTHFD1	OMIM:617780
HP:0001369	Arthritis	205327	C2orf69	OMIM:619423
HP:0001369	Arthritis	4615	MYD88	OMIM:612260
HP:0001369	Arthritis	3426	CFI	OMIM:610984
HP:0001369	Arthritis	4803	NGF	OMIM:608654
HP:0001369	Arthritis	10216	PRG4	ORPHA:2848
HP:0001369	Arthritis	4088	SMAD3	ORPHA:284984
HP:0001369	Arthritis	4148	MATN3	ORPHA:93311
HP:0001369	Arthritis	59341	TRPV4	ORPHA:85169
HP:0001369	Arthritis	1301	COL11A1	OMIM:154780
HP:0001369	Arthritis	1298	COL9A2	OMIM:600204
HP:0001369	Arthritis	1280	COL2A1	OMIM:604864
HP:0001369	Arthritis	4087	SMAD2	OMIM:619656
HP:0001369	Arthritis	4322	MMP13	ORPHA:93356
HP:0001369	Arthritis	64421	DCLRE1C	ORPHA:275
HP:0001369	Arthritis	144811	LACC1	ORPHA:85414
HP:0001369	Arthritis	4282	MIF	ORPHA:85414
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0001369	Arthritis	3569	IL6	ORPHA:85414
HP:0001369	Arthritis	54829	ASPN	OMIM:607850
HP:0001369	Arthritis	8200	GDF5	ORPHA:63442
HP:0001369	Arthritis	2487	FRZB	OMIM:165720
HP:0001369	Arthritis	3106	HLA-B	OMIM:106300
HP:0001369	Arthritis	9051	PSTPIP1	OMIM:604416
HP:0001369	Arthritis	7132	TNFRSF1A	OMIM:142680
HP:0001369	Arthritis	26525	IL36RN	OMIM:614204
HP:0001369	Arthritis	4210	MEFV	ORPHA:3243
HP:0001369	Arthritis	10043	TOM1	OMIM:619510
HP:0011581	Double outlet left ventricle	2627	GATA6	OMIM:600001
HP:0011581	Double outlet left ventricle	2627	GATA6	ORPHA:2255
HP:0011580	Short chordae tendineae of the mitral valve	2316	FLNA	OMIM:314400
HP:0011587	Abnormal branching pattern of the aortic arch	78987	CRELD1	OMIM:606217
HP:0011587	Abnormal branching pattern of the aortic arch	64220	STRA6	OMIM:601186
HP:0011587	Abnormal branching pattern of the aortic arch	1387	CREBBP	OMIM:180849
HP:0011587	Abnormal branching pattern of the aortic arch	1387	CREBBP	ORPHA:353277
HP:0011587	Abnormal branching pattern of the aortic arch	1387	CREBBP	ORPHA:353281
HP:0011587	Abnormal branching pattern of the aortic arch	2033	EP300	OMIM:180849
HP:0011587	Abnormal branching pattern of the aortic arch	2033	EP300	ORPHA:353284
HP:0011587	Abnormal branching pattern of the aortic arch	5296	PIK3R2	OMIM:603387
HP:0011587	Abnormal branching pattern of the aortic arch	9894	TELO2	OMIM:616954
HP:0011587	Abnormal branching pattern of the aortic arch	10526	IPO8	OMIM:619472
HP:0011587	Abnormal branching pattern of the aortic arch	100128908	CIROP	OMIM:619702
HP:0011587	Abnormal branching pattern of the aortic arch	9993	DGCR2	OMIM:192430
HP:0011587	Abnormal branching pattern of the aortic arch	8220	ESS2	OMIM:192430
HP:0011587	Abnormal branching pattern of the aortic arch	8214	DGCR6	OMIM:192430
HP:0011587	Abnormal branching pattern of the aortic arch	54487	DGCR8	OMIM:192430
HP:0011587	Abnormal branching pattern of the aortic arch	6899	TBX1	OMIM:192430
HP:0011587	Abnormal branching pattern of the aortic arch	2629	GBA1	OMIM:230900
HP:0011587	Abnormal branching pattern of the aortic arch	2324	FLT4	OMIM:618780
HP:0011587	Abnormal branching pattern of the aortic arch	5337	PLD1	OMIM:212093
HP:0011587	Abnormal branching pattern of the aortic arch	7490	WT1	OMIM:608978
HP:0011587	Abnormal branching pattern of the aortic arch	80232	WDR26	ORPHA:513456
HP:0011587	Abnormal branching pattern of the aortic arch	80232	WDR26	OMIM:617616
HP:0011587	Abnormal branching pattern of the aortic arch	137814	NKX2-6	ORPHA:3384
HP:0011587	Abnormal branching pattern of the aortic arch	23129	PLXND1	ORPHA:3384
HP:0011587	Abnormal branching pattern of the aortic arch	1770	DNAH9	OMIM:618300
HP:0011587	Abnormal branching pattern of the aortic arch	79989	IFT56	OMIM:619534
HP:0011587	Abnormal branching pattern of the aortic arch	168507	PKD1L1	OMIM:617205
HP:0011587	Abnormal branching pattern of the aortic arch	25981	DNAH1	OMIM:617577
HP:0011587	Abnormal branching pattern of the aortic arch	93	ACVR2B	OMIM:613751
HP:0011587	Abnormal branching pattern of the aortic arch	54916	TMEM260	OMIM:617478
HP:0011587	Abnormal branching pattern of the aortic arch	220136	CFAP53	OMIM:614779
HP:0011587	Abnormal branching pattern of the aortic arch	55636	CHD7	OMIM:214800
HP:0011587	Abnormal branching pattern of the aortic arch	2657	GDF1	OMIM:613854
HP:0011587	Abnormal branching pattern of the aortic arch	10992	SF3B2	OMIM:164210
HP:0011587	Abnormal branching pattern of the aortic arch	118856	MMP21	OMIM:616749
HP:0008529	Absence of acoustic reflex	9692	PRORP	OMIM:619737
HP:0008529	Absence of acoustic reflex	81624	DIAPH3	OMIM:609129
HP:0008529	Absence of acoustic reflex	9381	OTOF	OMIM:601071
HP:0008529	Absence of acoustic reflex	9526	MPDU1	ORPHA:79323
HP:0008528	Long hairs growing from helix of pinna	1371	CPOX	ORPHA:79273
HP:0008591	Congenital conductive hearing impairment	257	ALX3	ORPHA:391474
HP:0008568	Vestibular areflexia	5981	RFC1	OMIM:614575
HP:0008568	Vestibular areflexia	5981	RFC1	ORPHA:504476
HP:0008568	Vestibular areflexia	83715	ESPN	OMIM:609006
HP:0008568	Vestibular areflexia	53405	CLIC5	OMIM:616042
HP:0008619	Bilateral sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0008619	Bilateral sensorineural hearing impairment	7809	BSND	ORPHA:89938
HP:0008619	Bilateral sensorineural hearing impairment	1188	CLCNKB	ORPHA:89938
HP:0008619	Bilateral sensorineural hearing impairment	1187	CLCNKA	ORPHA:89938
HP:0008619	Bilateral sensorineural hearing impairment	79784	MYH14	ORPHA:397744
HP:0008619	Bilateral sensorineural hearing impairment	27316	RBMX	OMIM:300238
HP:0008619	Bilateral sensorineural hearing impairment	410	ARSA	ORPHA:309256
HP:0008619	Bilateral sensorineural hearing impairment	410	ARSA	ORPHA:309271
HP:0008619	Bilateral sensorineural hearing impairment	410	ARSA	ORPHA:309263
HP:0008619	Bilateral sensorineural hearing impairment	5660	PSAP	ORPHA:309256
HP:0008619	Bilateral sensorineural hearing impairment	5660	PSAP	ORPHA:309271
HP:0008619	Bilateral sensorineural hearing impairment	5660	PSAP	ORPHA:309263
HP:0008619	Bilateral sensorineural hearing impairment	23126	POGZ	OMIM:616364
HP:0008619	Bilateral sensorineural hearing impairment	6711	SPTBN1	OMIM:619475
HP:0008619	Bilateral sensorineural hearing impairment	222662	LHFPL5	OMIM:610265
HP:0008619	Bilateral sensorineural hearing impairment	3753	KCNE1	ORPHA:90647
HP:0008619	Bilateral sensorineural hearing impairment	3784	KCNQ1	ORPHA:90647
HP:0008619	Bilateral sensorineural hearing impairment	84334	COA8	ORPHA:436271
HP:0008619	Bilateral sensorineural hearing impairment	80067	DCAF17	ORPHA:3464
HP:0008619	Bilateral sensorineural hearing impairment	92935	MARS2	ORPHA:314603
HP:0008619	Bilateral sensorineural hearing impairment	2521	FUS	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	8878	SQSTM1	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	7415	VCP	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	23435	TARDBP	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	29110	TBK1	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	400916	CHCHD10	ORPHA:275872
HP:0008619	Bilateral sensorineural hearing impairment	643226	GRXCR2	OMIM:615837
HP:0008619	Bilateral sensorineural hearing impairment	25914	RTTN	ORPHA:468631
HP:0008619	Bilateral sensorineural hearing impairment	5428	POLG	ORPHA:70595
HP:0008619	Bilateral sensorineural hearing impairment	56652	TWNK	ORPHA:70595
HP:0008619	Bilateral sensorineural hearing impairment	6558	SLC12A2	OMIM:619083
HP:0008619	Bilateral sensorineural hearing impairment	6558	SLC12A2	OMIM:619080
HP:0008619	Bilateral sensorineural hearing impairment	57465	TBC1D24	OMIM:220500
HP:0008619	Bilateral sensorineural hearing impairment	79731	NARS2	OMIM:618434
HP:0008619	Bilateral sensorineural hearing impairment	1288	COL4A6	OMIM:300914
HP:0008619	Bilateral sensorineural hearing impairment	526	ATP6V1B2	OMIM:124480
HP:0008619	Bilateral sensorineural hearing impairment	2811	GP1BA	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	2812	GP1BB	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	3674	ITGA2B	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	3673	ITGA2	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	135228	CD109	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	3690	ITGB3	ORPHA:853
HP:0008619	Bilateral sensorineural hearing impairment	4131	MAP1B	OMIM:619808
HP:0008619	Bilateral sensorineural hearing impairment	5456	POU3F4	ORPHA:1435
HP:0008619	Bilateral sensorineural hearing impairment	51	ACOX1	OMIM:264470
HP:0008619	Bilateral sensorineural hearing impairment	4512	MT-CO1	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4513	MT-CO2	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4514	MT-CO3	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4519	MT-CYB	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4511	MT-TC	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4574	MT-TS1	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4575	MT-TS2	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4558	MT-TF	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4541	MT-ND6	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4567	MT-TL1	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4540	MT-ND5	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4566	MT-TK	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4535	MT-ND1	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4572	MT-TQ	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4577	MT-TV	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	4578	MT-TW	OMIM:540000
HP:0008619	Bilateral sensorineural hearing impairment	55739	NAXD	OMIM:618321
HP:0008619	Bilateral sensorineural hearing impairment	50484	RRM2B	OMIM:268315
HP:0008619	Bilateral sensorineural hearing impairment	71	ACTG1	OMIM:604717
HP:0008619	Bilateral sensorineural hearing impairment	125336	LOXHD1	OMIM:613079
HP:0008619	Bilateral sensorineural hearing impairment	8565	YARS1	OMIM:619418
HP:0008619	Bilateral sensorineural hearing impairment	10381	TUBB3	ORPHA:300570
HP:0008619	Bilateral sensorineural hearing impairment	131118	DNAJC19	ORPHA:66634
HP:0008619	Bilateral sensorineural hearing impairment	55699	IARS2	ORPHA:436174
HP:0008619	Bilateral sensorineural hearing impairment	2961	GTF2E2	OMIM:616943
HP:0008619	Bilateral sensorineural hearing impairment	2961	GTF2E2	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	404672	GTF2H5	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	833	CARS1	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	2068	ERCC2	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	7737	RNF113A	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	136647	MPLKIP	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	6897	TARS1	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	2071	ERCC3	ORPHA:33364
HP:0008619	Bilateral sensorineural hearing impairment	3954	LETM1	OMIM:620089
HP:0008619	Bilateral sensorineural hearing impairment	22856	CHSY1	OMIM:605282
HP:0008619	Bilateral sensorineural hearing impairment	50617	ATP6V0A4	OMIM:602722
HP:0008619	Bilateral sensorineural hearing impairment	5611	DNAJC3	ORPHA:445062
HP:0008619	Bilateral sensorineural hearing impairment	219972	MPEG1	OMIM:619223
HP:0008619	Bilateral sensorineural hearing impairment	10533	ATG7	OMIM:619422
HP:0008619	Bilateral sensorineural hearing impairment	22808	MRAS	OMIM:618499
HP:0008619	Bilateral sensorineural hearing impairment	4647	MYO7A	OMIM:601317
HP:0008619	Bilateral sensorineural hearing impairment	92949	ADAMTSL1	ORPHA:521445
HP:0008619	Bilateral sensorineural hearing impairment	117155	CATSPER2	OMIM:611102
HP:0008619	Bilateral sensorineural hearing impairment	161497	STRC	OMIM:611102
HP:0008619	Bilateral sensorineural hearing impairment	51776	MAP3K20	ORPHA:488232
HP:0008619	Bilateral sensorineural hearing impairment	1834	DSPP	OMIM:605594
HP:0008619	Bilateral sensorineural hearing impairment	4990	SIX6	OMIM:206900
HP:0008619	Bilateral sensorineural hearing impairment	6657	SOX2	OMIM:206900
HP:0000378	Cupped ear	668	FOXL2	OMIM:110100
HP:0000378	Cupped ear	3476	IGBP1	OMIM:300472
HP:0000378	Cupped ear	3476	IGBP1	ORPHA:52055
HP:0000378	Cupped ear	1718	DHCR24	OMIM:602398
HP:0000378	Cupped ear	4953	ODC1	OMIM:619075
HP:0000378	Cupped ear	6611	SMS	ORPHA:3063
HP:0000378	Cupped ear	6909	TBX2	OMIM:618223
HP:0000378	Cupped ear	26038	CHD5	OMIM:619873
HP:0000378	Cupped ear	10664	CTCF	ORPHA:363611
HP:0000378	Cupped ear	134218	DNAJC21	OMIM:617052
HP:0000378	Cupped ear	10526	IPO8	OMIM:619472
HP:0000378	Cupped ear	2138	EYA1	OMIM:113650
HP:0000378	Cupped ear	2138	EYA1	OMIM:602588
HP:0000378	Cupped ear	2138	EYA1	OMIM:166780
HP:0000378	Cupped ear	6495	SIX1	OMIM:113650
HP:0000378	Cupped ear	6711	SPTBN1	OMIM:619475
HP:0000378	Cupped ear	9780	PIEZO1	OMIM:616843
HP:0000378	Cupped ear	1909	EDNRA	OMIM:616367
HP:0000378	Cupped ear	23394	ADNP	OMIM:615873
HP:0000378	Cupped ear	2263	FGFR2	OMIM:149730
HP:0000378	Cupped ear	2263	FGFR2	ORPHA:2363
HP:0000378	Cupped ear	79005	SCNM1	OMIM:620107
HP:0000378	Cupped ear	5361	PLXNA1	OMIM:619955
HP:0000378	Cupped ear	9839	ZEB2	OMIM:235730
HP:0000378	Cupped ear	80144	FRAS1	OMIM:219000
HP:0000378	Cupped ear	2255	FGF10	OMIM:620193
HP:0000378	Cupped ear	2255	FGF10	ORPHA:2363
HP:0000378	Cupped ear	11198	SUPT16H	OMIM:619480
HP:0000378	Cupped ear	27125	AFF4	ORPHA:444077
HP:0000378	Cupped ear	284252	KCTD1	OMIM:181270
HP:0000378	Cupped ear	2261	FGFR3	OMIM:620192
HP:0000378	Cupped ear	2261	FGFR3	ORPHA:2363
HP:0000378	Cupped ear	1457	CSNK2A1	OMIM:617062
HP:0000378	Cupped ear	54880	BCOR	OMIM:300166
HP:0000378	Cupped ear	51339	DACT1	OMIM:617466
HP:0000378	Cupped ear	54870	QRICH1	OMIM:617982
HP:0000378	Cupped ear	5075	PAX1	OMIM:615560
HP:0000378	Cupped ear	53335	BCL11A	OMIM:617101
HP:0000378	Cupped ear	1723	DHODH	OMIM:263750
HP:0000378	Cupped ear	1723	DHODH	ORPHA:246
HP:0000378	Cupped ear	10084	PQBP1	ORPHA:93945
HP:0000378	Cupped ear	10084	PQBP1	ORPHA:93946
HP:0000378	Cupped ear	10084	PQBP1	ORPHA:93947
HP:0000378	Cupped ear	10084	PQBP1	OMIM:309500
HP:0000378	Cupped ear	23291	FBXW11	OMIM:618914
HP:0000378	Cupped ear	7291	TWIST1	OMIM:617746
HP:0000378	Cupped ear	79971	WLS	OMIM:619648
HP:0000378	Cupped ear	6925	TCF4	OMIM:610954
HP:0000378	Cupped ear	55252	ASXL2	OMIM:617190
HP:0000378	Cupped ear	23556	PIGN	OMIM:614080
HP:0000378	Cupped ear	55777	MBD5	OMIM:156200
HP:0000378	Cupped ear	84992	PIGY	ORPHA:247262
HP:0000378	Cupped ear	84720	PIGO	ORPHA:247262
HP:0000378	Cupped ear	93210	PGAP3	ORPHA:247262
HP:0000378	Cupped ear	284098	PIGW	ORPHA:247262
HP:0000378	Cupped ear	27315	PGAP2	ORPHA:247262
HP:0000378	Cupped ear	55650	PIGV	ORPHA:247262
HP:0000378	Cupped ear	9487	PIGL	ORPHA:247262
HP:0000378	Cupped ear	254065	BRWD3	OMIM:300659
HP:0000378	Cupped ear	1984	EIF5A	OMIM:619376
HP:0000378	Cupped ear	1663	DDX11	OMIM:613398
HP:0000378	Cupped ear	57479	PRR12	OMIM:619539
HP:0000378	Cupped ear	5455	POU3F3	OMIM:618604
HP:0000378	Cupped ear	1889	ECE1	OMIM:613870
HP:0000378	Cupped ear	9968	MED12	ORPHA:93932
HP:0000378	Cupped ear	1108	CHD4	OMIM:617159
HP:0000378	Cupped ear	9896	FIG4	OMIM:216340
HP:0000378	Cupped ear	54101	RIPK4	OMIM:263650
HP:0000378	Cupped ear	7403	KDM6A	OMIM:300867
HP:0000378	Cupped ear	23036	ZNF292	OMIM:619188
HP:0000378	Cupped ear	55636	CHD7	OMIM:214800
HP:0000378	Cupped ear	25942	SIN3A	OMIM:613406
HP:0000378	Cupped ear	58499	ZNF462	OMIM:618619
HP:0000378	Cupped ear	2773	GNAI3	OMIM:602483
HP:0000378	Cupped ear	10075	HUWE1	OMIM:309590
HP:0008615	Adult onset sensorineural hearing impairment	22943	DKK1	ORPHA:268882
HP:0008615	Adult onset sensorineural hearing impairment	1161	ERCC8	ORPHA:90324
HP:0008615	Adult onset sensorineural hearing impairment	2074	ERCC6	ORPHA:90324
HP:0008615	Adult onset sensorineural hearing impairment	1716	DGUOK	ORPHA:329314
HP:0008615	Adult onset sensorineural hearing impairment	10804	GJB6	OMIM:612643
HP:0008625	Severe sensorineural hearing impairment	10804	GJB6	ORPHA:477
HP:0008625	Severe sensorineural hearing impairment	2706	GJB2	ORPHA:477
HP:0008625	Severe sensorineural hearing impairment	7840	ALMS1	ORPHA:64
HP:0008625	Severe sensorineural hearing impairment	29899	GPSM2	OMIM:604213
HP:0008625	Severe sensorineural hearing impairment	11078	TRIOBP	OMIM:609823
HP:0008625	Severe sensorineural hearing impairment	30813	VSX1	OMIM:614195
HP:0008625	Severe sensorineural hearing impairment	7084	TK2	ORPHA:254875
HP:0008625	Severe sensorineural hearing impairment	22856	CHSY1	ORPHA:363417
HP:0008625	Severe sensorineural hearing impairment	8085	KMT2D	OMIM:620186
HP:0008625	Severe sensorineural hearing impairment	526	ATP6V1B2	ORPHA:79499
HP:0008625	Severe sensorineural hearing impairment	5781	PTPN11	ORPHA:500
HP:0008625	Severe sensorineural hearing impairment	673	BRAF	ORPHA:500
HP:0008625	Severe sensorineural hearing impairment	5894	RAF1	ORPHA:500
HP:0001370	Rheumatoid arthritis	54	ACP5	OMIM:607944
HP:0001370	Rheumatoid arthritis	6775	STAT4	ORPHA:85410
HP:0001370	Rheumatoid arthritis	3560	IL2RB	ORPHA:85410
HP:0001370	Rheumatoid arthritis	79722	ANKRD55	ORPHA:85410
HP:0001370	Rheumatoid arthritis	26191	PTPN22	ORPHA:85410
HP:0001370	Rheumatoid arthritis	26191	PTPN22	OMIM:180300
HP:0001370	Rheumatoid arthritis	919	CD247	ORPHA:85410
HP:0001370	Rheumatoid arthritis	3559	IL2RA	ORPHA:85410
HP:0001370	Rheumatoid arthritis	5771	PTPN2	ORPHA:85410
HP:0001370	Rheumatoid arthritis	2643	GCH1	ORPHA:98808
HP:0001370	Rheumatoid arthritis	4929	NR4A2	ORPHA:98808
HP:0001370	Rheumatoid arthritis	3615	IMPDH2	ORPHA:98808
HP:0001370	Rheumatoid arthritis	6583	SLC22A4	OMIM:180300
HP:0001370	Rheumatoid arthritis	4261	CIITA	OMIM:180300
HP:0001370	Rheumatoid arthritis	51744	CD244	OMIM:180300
HP:0001370	Rheumatoid arthritis	4795	NFKBIL1	OMIM:180300
HP:0001370	Rheumatoid arthritis	3586	IL10	OMIM:180300
HP:0001370	Rheumatoid arthritis	3514	IGKC	ORPHA:183675
HP:0001370	Rheumatoid arthritis	3501	IGHG2	ORPHA:183675
HP:0001370	Rheumatoid arthritis	64421	DCLRE1C	ORPHA:275
HP:0001370	Rheumatoid arthritis	144811	LACC1	ORPHA:85414
HP:0001370	Rheumatoid arthritis	4282	MIF	ORPHA:85414
HP:0001370	Rheumatoid arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0001370	Rheumatoid arthritis	3569	IL6	ORPHA:85414
HP:0001374	Congenital hip dislocation	9361	LONP1	OMIM:600373
HP:0001374	Congenital hip dislocation	9361	LONP1	ORPHA:1458
HP:0001374	Congenital hip dislocation	6261	RYR1	ORPHA:597
HP:0001374	Congenital hip dislocation	6261	RYR1	OMIM:117000
HP:0001374	Congenital hip dislocation	64840	PORCN	OMIM:305600
HP:0001374	Congenital hip dislocation	6628	SNRPB	OMIM:117650
HP:0001374	Congenital hip dislocation	9759	HDAC4	OMIM:619797
HP:0001374	Congenital hip dislocation	5351	PLOD1	OMIM:225400
HP:0001374	Congenital hip dislocation	134218	DNAJC21	OMIM:617052
HP:0001374	Congenital hip dislocation	1182	CLCN3	OMIM:619512
HP:0001374	Congenital hip dislocation	63895	PIEZO2	OMIM:114300
HP:0001374	Congenital hip dislocation	2138	EYA1	OMIM:113650
HP:0001374	Congenital hip dislocation	6495	SIX1	OMIM:113650
HP:0001374	Congenital hip dislocation	84627	ZNF469	OMIM:229200
HP:0001374	Congenital hip dislocation	55699	IARS2	OMIM:616007
HP:0001374	Congenital hip dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0001374	Congenital hip dislocation	7531	YWHAE	ORPHA:217385
HP:0001374	Congenital hip dislocation	6885	MAP3K7	OMIM:617137
HP:0001374	Congenital hip dislocation	9820	CUL7	ORPHA:2616
HP:0001374	Congenital hip dislocation	23363	OBSL1	ORPHA:2616
HP:0001374	Congenital hip dislocation	83987	CCDC8	ORPHA:2616
HP:0001374	Congenital hip dislocation	8239	USP9X	ORPHA:480880
HP:0001374	Congenital hip dislocation	8195	MKKS	OMIM:236700
HP:0001374	Congenital hip dislocation	1131	CHRM3	ORPHA:2970
HP:0001374	Congenital hip dislocation	1131	CHRM3	OMIM:100100
HP:0001374	Congenital hip dislocation	10060	ABCC9	OMIM:619719
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	OMIM:219200
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	OMIM:278250
HP:0001374	Congenital hip dislocation	9401	RECQL4	OMIM:268400
HP:0001374	Congenital hip dislocation	89910	UBE3B	OMIM:244450
HP:0001374	Congenital hip dislocation	1723	DHODH	OMIM:263750
HP:0001374	Congenital hip dislocation	60482	SLC5A7	ORPHA:98914
HP:0001374	Congenital hip dislocation	4649	MYO9A	ORPHA:98914
HP:0001374	Congenital hip dislocation	1305	COL13A1	ORPHA:98914
HP:0001374	Congenital hip dislocation	1103	CHAT	ORPHA:98914
HP:0001374	Congenital hip dislocation	6576	SLC25A1	ORPHA:98914
HP:0001374	Congenital hip dislocation	6843	VAMP1	ORPHA:98914
HP:0001374	Congenital hip dislocation	375790	AGRN	ORPHA:98914
HP:0001374	Congenital hip dislocation	127833	SYT2	ORPHA:98914
HP:0001374	Congenital hip dislocation	6572	SLC18A3	ORPHA:98914
HP:0001374	Congenital hip dislocation	6616	SNAP25	ORPHA:98914
HP:0001374	Congenital hip dislocation	5832	ALDH18A1	OMIM:219150
HP:0001374	Congenital hip dislocation	55768	NGLY1	ORPHA:404454
HP:0001374	Congenital hip dislocation	2316	FLNA	OMIM:304120
HP:0001374	Congenital hip dislocation	2273	FHL1	OMIM:300280
HP:0001374	Congenital hip dislocation	7169	TPM2	OMIM:108120
HP:0001374	Congenital hip dislocation	7169	TPM2	ORPHA:2020
HP:0001374	Congenital hip dislocation	6904	TBCD	ORPHA:496641
HP:0001374	Congenital hip dislocation	7547	ZIC3	OMIM:306955
HP:0001374	Congenital hip dislocation	3835	KIF22	OMIM:603546
HP:0001374	Congenital hip dislocation	2239	GPC4	ORPHA:373
HP:0001374	Congenital hip dislocation	2719	GPC3	ORPHA:373
HP:0001374	Congenital hip dislocation	7476	WNT7A	OMIM:228930
HP:0001374	Congenital hip dislocation	1290	COL5A2	OMIM:130010
HP:0001374	Congenital hip dislocation	523	ATP6V1A	ORPHA:357074
HP:0001374	Congenital hip dislocation	529	ATP6V1E1	ORPHA:357074
HP:0001374	Congenital hip dislocation	5528	PPP2R5D	ORPHA:457279
HP:0001374	Congenital hip dislocation	5528	PPP2R5D	OMIM:616355
HP:0001374	Congenital hip dislocation	8260	NAA10	OMIM:300855
HP:0001374	Congenital hip dislocation	50814	NSDHL	OMIM:308050
HP:0001374	Congenital hip dislocation	23522	KAT6B	OMIM:606170
HP:0001374	Congenital hip dislocation	5831	PYCR1	OMIM:612940
HP:0001374	Congenital hip dislocation	50628	GEMIN4	OMIM:617913
HP:0001374	Congenital hip dislocation	3339	HSPG2	OMIM:255800
HP:0001374	Congenital hip dislocation	6913	TBX15	ORPHA:93333
HP:0001374	Congenital hip dislocation	9896	FIG4	OMIM:216340
HP:0001374	Congenital hip dislocation	23299	BICD2	OMIM:618291
HP:0001374	Congenital hip dislocation	22827	PUF60	ORPHA:508488
HP:0001374	Congenital hip dislocation	1281	COL3A1	ORPHA:286
HP:0001374	Congenital hip dislocation	57190	SELENON	ORPHA:2020
HP:0001374	Congenital hip dislocation	58	ACTA1	ORPHA:2020
HP:0001374	Congenital hip dislocation	4633	MYL2	ORPHA:2020
HP:0001374	Congenital hip dislocation	3679	ITGA7	ORPHA:2020
HP:0001374	Congenital hip dislocation	9200	HACD1	ORPHA:2020
HP:0001374	Congenital hip dislocation	7170	TPM3	ORPHA:2020
HP:0001374	Congenital hip dislocation	7170	TPM3	OMIM:255310
HP:0001374	Congenital hip dislocation	51776	MAP3K20	ORPHA:2020
HP:0001374	Congenital hip dislocation	51651	PTRH2	ORPHA:456312
HP:0001374	Congenital hip dislocation	9427	ECEL1	OMIM:615065
HP:0001374	Congenital hip dislocation	7067	THRA	OMIM:614450
HP:0001374	Congenital hip dislocation	8085	KMT2D	OMIM:147920
HP:0001374	Congenital hip dislocation	7403	KDM6A	OMIM:147920
HP:0001374	Congenital hip dislocation	1303	COL12A1	ORPHA:536516
HP:0001374	Congenital hip dislocation	9894	TELO2	ORPHA:488642
HP:0001374	Congenital hip dislocation	1277	COL1A1	OMIM:130060
HP:0001374	Congenital hip dislocation	57477	SHROOM4	ORPHA:85288
HP:0001374	Congenital hip dislocation	2192	FBLN1	ORPHA:404451
HP:0001374	Congenital hip dislocation	8218	CLTCL1	ORPHA:453510
HP:0001376	Limitation of joint mobility	2074	ERCC6	OMIM:133540
HP:0001376	Limitation of joint mobility	27238	GPKOW	ORPHA:2570
HP:0001376	Limitation of joint mobility	30061	SLC40A1	ORPHA:139491
HP:0001376	Limitation of joint mobility	23592	LEMD3	ORPHA:166119
HP:0001376	Limitation of joint mobility	2335	FN1	ORPHA:93315
HP:0001376	Limitation of joint mobility	2733	GLE1	ORPHA:1486
HP:0001376	Limitation of joint mobility	5354	PLP1	ORPHA:99015
HP:0001376	Limitation of joint mobility	242	ALOX12B	ORPHA:281122
HP:0001376	Limitation of joint mobility	59344	ALOXE3	ORPHA:281122
HP:0001376	Limitation of joint mobility	7051	TGM1	ORPHA:281122
HP:0001376	Limitation of joint mobility	112	ADCY6	ORPHA:2680
HP:0001376	Limitation of joint mobility	163175	LGI4	ORPHA:2680
HP:0001376	Limitation of joint mobility	8506	CNTNAP1	ORPHA:2680
HP:0001376	Limitation of joint mobility	113179	ADAT3	ORPHA:363528
HP:0001376	Limitation of joint mobility	150468	CKAP2L	ORPHA:3255
HP:0001376	Limitation of joint mobility	1161	ERCC8	OMIM:216400
HP:0001376	Limitation of joint mobility	79158	GNPTAB	OMIM:252500
HP:0001376	Limitation of joint mobility	79158	GNPTAB	ORPHA:576
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:90153
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:79474
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:740
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:157973
HP:0001376	Limitation of joint mobility	10651	MTX2	ORPHA:90153
HP:0001376	Limitation of joint mobility	4626	MYH8	ORPHA:3377
HP:0001376	Limitation of joint mobility	8925	HERC1	ORPHA:457359
HP:0001376	Limitation of joint mobility	3423	IDS	ORPHA:217085
HP:0001376	Limitation of joint mobility	3423	IDS	ORPHA:217093
HP:0001376	Limitation of joint mobility	9326	ZNHIT3	ORPHA:2836
HP:0001376	Limitation of joint mobility	547	KIF1A	ORPHA:2836
HP:0001376	Limitation of joint mobility	3248	HPGD	ORPHA:2796
HP:0001376	Limitation of joint mobility	3248	HPGD	OMIM:259100
HP:0001376	Limitation of joint mobility	6578	SLCO2A1	ORPHA:2796
HP:0001376	Limitation of joint mobility	3339	HSPG2	ORPHA:1865
HP:0001376	Limitation of joint mobility	2131	EXT1	ORPHA:321
HP:0001376	Limitation of joint mobility	2132	EXT2	ORPHA:321
HP:0001376	Limitation of joint mobility	2632	GBE1	ORPHA:206583
HP:0001376	Limitation of joint mobility	171023	ASXL1	ORPHA:97297
HP:0001376	Limitation of joint mobility	9496	TBX4	ORPHA:261279
HP:0001376	Limitation of joint mobility	64327	LMBR1	ORPHA:93405
HP:0001376	Limitation of joint mobility	64327	LMBR1	ORPHA:2378
HP:0001376	Limitation of joint mobility	6469	SHH	ORPHA:93405
HP:0001376	Limitation of joint mobility	60386	SLC25A19	ORPHA:99742
HP:0001376	Limitation of joint mobility	1499	CTNNB1	ORPHA:873
HP:0001376	Limitation of joint mobility	324	APC	ORPHA:873
HP:0001376	Limitation of joint mobility	5251	PHEX	ORPHA:89936
HP:0001376	Limitation of joint mobility	9791	PTDSS1	ORPHA:2658
HP:0001376	Limitation of joint mobility	8239	USP9X	ORPHA:480880
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93474
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93473
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93476
HP:0001376	Limitation of joint mobility	6329	SCN4A	ORPHA:99735
HP:0001376	Limitation of joint mobility	7305	TYROBP	ORPHA:2770
HP:0001376	Limitation of joint mobility	54209	TREM2	ORPHA:2770
HP:0001376	Limitation of joint mobility	7040	TGFB1	ORPHA:1328
HP:0001376	Limitation of joint mobility	9935	MAFB	ORPHA:2774
HP:0001376	Limitation of joint mobility	4598	MVK	ORPHA:343
HP:0001376	Limitation of joint mobility	56052	ALG1	ORPHA:79327
HP:0001376	Limitation of joint mobility	10269	ZMPSTE24	ORPHA:740
HP:0001376	Limitation of joint mobility	4094	MAF	ORPHA:1272
HP:0001376	Limitation of joint mobility	4089	SMAD4	OMIM:139210
HP:0001376	Limitation of joint mobility	8838	CCN6	ORPHA:1159
HP:0001376	Limitation of joint mobility	6598	SMARCB1	ORPHA:99966
HP:0001376	Limitation of joint mobility	55906	ZC4H2	ORPHA:3454
HP:0001376	Limitation of joint mobility	2778	GNAS	ORPHA:2762
HP:0001376	Limitation of joint mobility	26154	ABCA12	ORPHA:457
HP:0001376	Limitation of joint mobility	90	ACVR1	ORPHA:337
HP:0001376	Limitation of joint mobility	63895	PIEZO2	ORPHA:376
HP:0001376	Limitation of joint mobility	4854	NOTCH3	ORPHA:2591
HP:0001376	Limitation of joint mobility	5159	PDGFRB	ORPHA:2591
HP:0001376	Limitation of joint mobility	2157	F8	ORPHA:169805
HP:0001376	Limitation of joint mobility	2157	F8	ORPHA:169802
HP:0001376	Limitation of joint mobility	3977	LIFR	ORPHA:3206
HP:0001376	Limitation of joint mobility	2990	GUSB	OMIM:253220
HP:0001376	Limitation of joint mobility	4053	LTBP2	ORPHA:3449
HP:0001376	Limitation of joint mobility	81794	ADAMTS10	ORPHA:3449
HP:0001376	Limitation of joint mobility	727857	BHLHA9	ORPHA:3329
HP:0001376	Limitation of joint mobility	8200	GDF5	ORPHA:2639
HP:0001376	Limitation of joint mobility	658	BMPR1B	ORPHA:2639
HP:0001376	Limitation of joint mobility	875	CBS	OMIM:236200
HP:0001376	Limitation of joint mobility	4621	MYH3	ORPHA:2990
HP:0001376	Limitation of joint mobility	1146	CHRNG	ORPHA:2990
HP:0001376	Limitation of joint mobility	10225	CD96	ORPHA:1308
HP:0001376	Limitation of joint mobility	64127	NOD2	ORPHA:90340
HP:0001376	Limitation of joint mobility	1302	COL11A2	ORPHA:1427
HP:0001376	Limitation of joint mobility	9051	PSTPIP1	ORPHA:69126
HP:0001376	Limitation of joint mobility	4982	TNFRSF11B	ORPHA:1416
HP:0001376	Limitation of joint mobility	56172	ANKH	ORPHA:1416
HP:0001376	Limitation of joint mobility	1311	COMP	ORPHA:750
HP:0001376	Limitation of joint mobility	1311	COMP	OMIM:177170
HP:0001376	Limitation of joint mobility	1280	COL2A1	OMIM:271700
HP:0001376	Limitation of joint mobility	1280	COL2A1	ORPHA:1856
HP:0001376	Limitation of joint mobility	4322	MMP13	OMIM:602111
HP:0001376	Limitation of joint mobility	4882	NPR2	OMIM:602875
HP:0001376	Limitation of joint mobility	10262	SF3B4	OMIM:154400
HP:0001376	Limitation of joint mobility	6424	SFRP4	OMIM:265900
HP:0001376	Limitation of joint mobility	85301	COL27A1	OMIM:615155
HP:0001376	Limitation of joint mobility	80207	OPA3	ORPHA:67036
HP:0001376	Limitation of joint mobility	23233	EXOC6B	ORPHA:93359
HP:0001376	Limitation of joint mobility	126792	B3GALT6	ORPHA:93359
HP:0001376	Limitation of joint mobility	4010	LMX1B	ORPHA:2614
HP:0001376	Limitation of joint mobility	4010	LMX1B	OMIM:161200
HP:0001376	Limitation of joint mobility	6023	RMRP	OMIM:250250
HP:0001376	Limitation of joint mobility	6023	RMRP	ORPHA:175
HP:0001376	Limitation of joint mobility	6023	RMRP	OMIM:607095
HP:0001376	Limitation of joint mobility	89970	RSPRY1	OMIM:616723
HP:0001376	Limitation of joint mobility	89970	RSPRY1	ORPHA:457395
HP:0001376	Limitation of joint mobility	10274	STAG1	ORPHA:502434
HP:0001376	Limitation of joint mobility	538	ATP7A	OMIM:304150
HP:0001376	Limitation of joint mobility	4796	TONSL	ORPHA:93357
HP:0001376	Limitation of joint mobility	4796	TONSL	OMIM:271510
HP:0001376	Limitation of joint mobility	10060	ABCC9	OMIM:619719
HP:0001376	Limitation of joint mobility	5447	POR	ORPHA:95699
HP:0001376	Limitation of joint mobility	4148	MATN3	OMIM:608728
HP:0001376	Limitation of joint mobility	4148	MATN3	ORPHA:156728
HP:0001376	Limitation of joint mobility	55869	HDAC8	OMIM:300882
HP:0001376	Limitation of joint mobility	100151683	RNU4ATAC	OMIM:226960
HP:0001376	Limitation of joint mobility	5594	MAPK1	OMIM:619087
HP:0001376	Limitation of joint mobility	54928	BPNT2	OMIM:614078
HP:0001376	Limitation of joint mobility	83737	ITCH	OMIM:613385
HP:0001376	Limitation of joint mobility	55790	CSGALNACT1	OMIM:618870
HP:0001376	Limitation of joint mobility	1299	COL9A3	OMIM:600969
HP:0001376	Limitation of joint mobility	2782	GNB1	OMIM:616973
HP:0001376	Limitation of joint mobility	2263	FGFR2	OMIM:123790
HP:0001376	Limitation of joint mobility	2201	FBN2	OMIM:121050
HP:0001376	Limitation of joint mobility	23529	CLCF1	OMIM:610313
HP:0001376	Limitation of joint mobility	7030	TFE3	OMIM:301066
HP:0001376	Limitation of joint mobility	2200	FBN1	OMIM:154700
HP:0001376	Limitation of joint mobility	10082	GPC6	OMIM:258315
HP:0001376	Limitation of joint mobility	2261	FGFR3	OMIM:146000
HP:0001376	Limitation of joint mobility	2261	FGFR3	OMIM:100800
HP:0001376	Limitation of joint mobility	2261	FGFR3	ORPHA:15
HP:0001376	Limitation of joint mobility	25836	NIPBL	OMIM:122470
HP:0001376	Limitation of joint mobility	2146	EZH2	OMIM:277590
HP:0001376	Limitation of joint mobility	2317	FLNB	OMIM:272460
HP:0001376	Limitation of joint mobility	6910	TBX5	OMIM:142900
HP:0001376	Limitation of joint mobility	633	BGN	OMIM:300106
HP:0001376	Limitation of joint mobility	83452	RAB33B	OMIM:615222
HP:0001376	Limitation of joint mobility	6999	TDO2	OMIM:600627
HP:0001376	Limitation of joint mobility	2316	FLNA	OMIM:309350
HP:0001376	Limitation of joint mobility	2316	FLNA	OMIM:311300
HP:0001376	Limitation of joint mobility	55012	PPP2R3C	OMIM:618419
HP:0001376	Limitation of joint mobility	200734	SPRED2	OMIM:619745
HP:0001376	Limitation of joint mobility	3930	LBR	OMIM:618019
HP:0001376	Limitation of joint mobility	5116	PCNT	OMIM:210720
HP:0001376	Limitation of joint mobility	9244	CRLF1	OMIM:272430
HP:0001376	Limitation of joint mobility	157570	ESCO2	OMIM:216100
HP:0001376	Limitation of joint mobility	54808	DYM	ORPHA:239
HP:0001376	Limitation of joint mobility	26191	PTPN22	ORPHA:397
HP:0001376	Limitation of joint mobility	26191	PTPN22	ORPHA:85408
HP:0001376	Limitation of joint mobility	26191	PTPN22	OMIM:180300
HP:0001376	Limitation of joint mobility	3106	HLA-B	ORPHA:397
HP:0001376	Limitation of joint mobility	3106	HLA-B	ORPHA:29207
HP:0001376	Limitation of joint mobility	3123	HLA-DRB1	ORPHA:397
HP:0001376	Limitation of joint mobility	8974	P4HA2	ORPHA:397
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:2053
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:1147
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:1146
HP:0001376	Limitation of joint mobility	54507	ADAMTSL4	ORPHA:1885
HP:0001376	Limitation of joint mobility	4204	MECP2	ORPHA:1762
HP:0001376	Limitation of joint mobility	118429	ANTXR2	ORPHA:2176
HP:0001376	Limitation of joint mobility	118429	ANTXR2	ORPHA:2028
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:230600
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:253010
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:230500
HP:0001376	Limitation of joint mobility	81839	VANGL1	ORPHA:3027
HP:0001376	Limitation of joint mobility	80199	FUZ	ORPHA:3027
HP:0001376	Limitation of joint mobility	4125	MAN2B1	ORPHA:309282
HP:0001376	Limitation of joint mobility	6775	STAT4	ORPHA:85408
HP:0001376	Limitation of joint mobility	3560	IL2RB	ORPHA:85408
HP:0001376	Limitation of joint mobility	79722	ANKRD55	ORPHA:85408
HP:0001376	Limitation of joint mobility	919	CD247	ORPHA:85408
HP:0001376	Limitation of joint mobility	3559	IL2RA	ORPHA:85408
HP:0001376	Limitation of joint mobility	5771	PTPN2	ORPHA:85408
HP:0001376	Limitation of joint mobility	72	ACTG2	ORPHA:2604
HP:0001376	Limitation of joint mobility	224	ALDH3A2	ORPHA:816
HP:0001376	Limitation of joint mobility	2314	FLII	ORPHA:819
HP:0001376	Limitation of joint mobility	23096	IQSEC2	ORPHA:819
HP:0001376	Limitation of joint mobility	10743	RAI1	ORPHA:819
HP:0001376	Limitation of joint mobility	10522	DEAF1	ORPHA:819
HP:0001376	Limitation of joint mobility	84572	GNPTG	OMIM:252605
HP:0001376	Limitation of joint mobility	65082	VPS33A	ORPHA:505248
HP:0001376	Limitation of joint mobility	3418	IDH2	ORPHA:296
HP:0001376	Limitation of joint mobility	3417	IDH1	ORPHA:296
HP:0001376	Limitation of joint mobility	170691	ADAMTS17	OMIM:613195
HP:0001376	Limitation of joint mobility	5119	CHMP1A	OMIM:614961
HP:0001376	Limitation of joint mobility	9927	MFN2	ORPHA:2398
HP:0001376	Limitation of joint mobility	340061	STING1	OMIM:615934
HP:0001376	Limitation of joint mobility	546	ATRX	ORPHA:847
HP:0001376	Limitation of joint mobility	222663	SCUBE3	OMIM:619184
HP:0001376	Limitation of joint mobility	175	AGA	ORPHA:93
HP:0001376	Limitation of joint mobility	2254	FGF9	ORPHA:3237
HP:0001376	Limitation of joint mobility	112476	PRRT2	ORPHA:98810
HP:0001376	Limitation of joint mobility	25953	PNKD	ORPHA:98810
HP:0001376	Limitation of joint mobility	10585	POMT1	OMIM:609308
HP:0001376	Limitation of joint mobility	4318	MMP9	ORPHA:1040
HP:0001376	Limitation of joint mobility	6804	STX1A	ORPHA:904
HP:0001376	Limitation of joint mobility	7461	CLIP2	ORPHA:904
HP:0001376	Limitation of joint mobility	84277	DNAJC30	ORPHA:904
HP:0001376	Limitation of joint mobility	8468	FKBP6	ORPHA:904
HP:0001376	Limitation of joint mobility	5982	RFC2	ORPHA:904
HP:0001376	Limitation of joint mobility	2969	GTF2I	ORPHA:904
HP:0001376	Limitation of joint mobility	3984	LIMK1	ORPHA:904
HP:0001376	Limitation of joint mobility	9569	GTF2IRD1	ORPHA:904
HP:0001376	Limitation of joint mobility	155382	VPS37D	ORPHA:904
HP:0001376	Limitation of joint mobility	155368	METTL27	ORPHA:904
HP:0001376	Limitation of joint mobility	114049	BUD23	ORPHA:904
HP:0001376	Limitation of joint mobility	7458	EIF4H	ORPHA:904
HP:0001376	Limitation of joint mobility	84163	GTF2IRD2	ORPHA:904
HP:0001376	Limitation of joint mobility	9275	BCL7B	ORPHA:904
HP:0001376	Limitation of joint mobility	26608	TBL2	ORPHA:904
HP:0001376	Limitation of joint mobility	653361	NCF1	ORPHA:904
HP:0001376	Limitation of joint mobility	135886	TMEM270	ORPHA:904
HP:0001376	Limitation of joint mobility	51085	MLXIPL	ORPHA:904
HP:0001376	Limitation of joint mobility	9031	BAZ1B	ORPHA:904
HP:0001376	Limitation of joint mobility	2006	ELN	ORPHA:904
HP:0001376	Limitation of joint mobility	5590	PRKCZ	ORPHA:1606
HP:0001376	Limitation of joint mobility	2563	GABRD	ORPHA:1606
HP:0001376	Limitation of joint mobility	23013	SPEN	ORPHA:1606
HP:0001376	Limitation of joint mobility	8510	MMP23B	ORPHA:1606
HP:0001376	Limitation of joint mobility	7798	LUZP1	ORPHA:1606
HP:0001376	Limitation of joint mobility	6497	SKI	ORPHA:1606
HP:0001376	Limitation of joint mobility	6497	SKI	ORPHA:2462
HP:0001376	Limitation of joint mobility	10630	PDPN	ORPHA:1606
HP:0001376	Limitation of joint mobility	10277	UBE4B	ORPHA:1606
HP:0001376	Limitation of joint mobility	8514	KCNAB2	ORPHA:1606
HP:0001376	Limitation of joint mobility	473	RERE	ORPHA:1606
HP:0001376	Limitation of joint mobility	63976	PRDM16	ORPHA:1606
HP:0001376	Limitation of joint mobility	54897	CASZ1	ORPHA:1606
HP:0001376	Limitation of joint mobility	493856	CISD2	ORPHA:3463
HP:0001376	Limitation of joint mobility	7466	WFS1	ORPHA:3463
HP:0001376	Limitation of joint mobility	9719	ADAMTSL2	OMIM:231050
HP:0001376	Limitation of joint mobility	9719	ADAMTSL2	ORPHA:1901
HP:0001376	Limitation of joint mobility	7486	WRN	ORPHA:902
HP:0001376	Limitation of joint mobility	285362	SUMF1	ORPHA:585
HP:0001376	Limitation of joint mobility	10436	EMG1	ORPHA:1270
HP:0001376	Limitation of joint mobility	9555	MACROH2A1	ORPHA:1275
HP:0001376	Limitation of joint mobility	5307	PITX1	ORPHA:1275
HP:0001376	Limitation of joint mobility	7140	TNNT3	ORPHA:1147
HP:0001376	Limitation of joint mobility	7140	TNNT3	ORPHA:1146
HP:0001376	Limitation of joint mobility	7136	TNNI2	ORPHA:1147
HP:0001376	Limitation of joint mobility	7136	TNNI2	ORPHA:1146
HP:0001376	Limitation of joint mobility	23483	TGDS	ORPHA:1388
HP:0001376	Limitation of joint mobility	4604	MYBPC1	ORPHA:1146
HP:0001376	Limitation of joint mobility	6583	SLC22A4	OMIM:180300
HP:0001376	Limitation of joint mobility	4261	CIITA	OMIM:180300
HP:0001376	Limitation of joint mobility	51744	CD244	OMIM:180300
HP:0001376	Limitation of joint mobility	4795	NFKBIL1	OMIM:180300
HP:0001376	Limitation of joint mobility	3586	IL10	OMIM:180300
HP:0001376	Limitation of joint mobility	2010	EMD	ORPHA:98863
HP:0001376	Limitation of joint mobility	60681	FKBP10	ORPHA:1149
HP:0001376	Limitation of joint mobility	60681	FKBP10	ORPHA:2771
HP:0001376	Limitation of joint mobility	64324	NSD1	ORPHA:3447
HP:0001376	Limitation of joint mobility	8726	EED	ORPHA:3447
HP:0001376	Limitation of joint mobility	23512	SUZ12	ORPHA:3447
HP:0001376	Limitation of joint mobility	57724	EPG5	ORPHA:1493
HP:0001376	Limitation of joint mobility	79188	TMEM43	ORPHA:98853
HP:0001376	Limitation of joint mobility	23345	SYNE1	ORPHA:98853
HP:0001376	Limitation of joint mobility	23224	SYNE2	ORPHA:98853
HP:0001376	Limitation of joint mobility	6448	SGSH	OMIM:252900
HP:0001376	Limitation of joint mobility	256297	PTF1A	OMIM:609069
HP:0001376	Limitation of joint mobility	79650	USB1	OMIM:604173
HP:0001376	Limitation of joint mobility	411	ARSB	OMIM:253200
HP:0001376	Limitation of joint mobility	443	ASPA	ORPHA:314911
HP:0001376	Limitation of joint mobility	4952	OCRL	ORPHA:534
HP:0001376	Limitation of joint mobility	5077	PAX3	ORPHA:896
HP:0001376	Limitation of joint mobility	2068	ERCC2	ORPHA:1466
HP:0001376	Limitation of joint mobility	2067	ERCC1	ORPHA:1466
HP:0001376	Limitation of joint mobility	2073	ERCC5	ORPHA:1466
HP:0001376	Limitation of joint mobility	9509	ADAMTS2	ORPHA:1901
HP:0001376	Limitation of joint mobility	2743	GLRB	ORPHA:3197
HP:0001376	Limitation of joint mobility	2741	GLRA1	ORPHA:3197
HP:0001376	Limitation of joint mobility	10243	GPHN	ORPHA:3197
HP:0001376	Limitation of joint mobility	84896	ATAD1	ORPHA:3197
HP:0001376	Limitation of joint mobility	9152	SLC6A5	ORPHA:3197
HP:0001376	Limitation of joint mobility	8883	NAE1	OMIM:620210
HP:0001376	Limitation of joint mobility	59341	TRPV4	ORPHA:1216
HP:0001376	Limitation of joint mobility	59341	TRPV4	ORPHA:2635
HP:0001376	Limitation of joint mobility	23476	BRD4	ORPHA:199
HP:0001376	Limitation of joint mobility	5885	RAD21	ORPHA:199
HP:0001376	Limitation of joint mobility	4659	PPP1R12A	OMIM:618820
HP:0001376	Limitation of joint mobility	285590	SH3PXD2B	ORPHA:137834
HP:0001376	Limitation of joint mobility	5352	PLOD2	ORPHA:2771
HP:0001376	Limitation of joint mobility	5728	PTEN	ORPHA:744
HP:0001376	Limitation of joint mobility	207	AKT1	ORPHA:744
HP:0001376	Limitation of joint mobility	54676	GTPBP2	OMIM:617988
HP:0001376	Limitation of joint mobility	2799	GNS	OMIM:252940
HP:0001376	Limitation of joint mobility	50515	CHST11	OMIM:618167
HP:0001376	Limitation of joint mobility	3889	KRT83	OMIM:617756
HP:0001376	Limitation of joint mobility	3664	IRF6	ORPHA:1300
HP:0001376	Limitation of joint mobility	138050	HGSNAT	OMIM:252930
HP:0001376	Limitation of joint mobility	22930	RAB3GAP1	ORPHA:2510
HP:0001376	Limitation of joint mobility	25782	RAB3GAP2	ORPHA:2510
HP:0001376	Limitation of joint mobility	22931	RAB18	ORPHA:2510
HP:0001376	Limitation of joint mobility	128637	TBC1D20	ORPHA:2510
HP:0001376	Limitation of joint mobility	71	ACTG1	ORPHA:2995
HP:0001376	Limitation of joint mobility	60	ACTB	ORPHA:2995
HP:0001376	Limitation of joint mobility	3897	L1CAM	ORPHA:2182
HP:0001376	Limitation of joint mobility	3636	INPPL1	ORPHA:2746
HP:0001376	Limitation of joint mobility	5130	PCYT1A	OMIM:608940
HP:0001376	Limitation of joint mobility	54829	ASPN	OMIM:607850
HP:0001376	Limitation of joint mobility	4669	NAGLU	OMIM:252920
HP:0001376	Limitation of joint mobility	1278	COL1A2	ORPHA:1899
HP:0001376	Limitation of joint mobility	1277	COL1A1	ORPHA:1899
HP:0001376	Limitation of joint mobility	11160	ERLIN2	ORPHA:280384
HP:0001376	Limitation of joint mobility	11160	ERLIN2	ORPHA:209951
HP:0001376	Limitation of joint mobility	4921	DDR2	OMIM:271665
HP:0001376	Limitation of joint mobility	4921	DDR2	OMIM:618175
HP:0001376	Limitation of joint mobility	57190	SELENON	ORPHA:97244
HP:0001376	Limitation of joint mobility	57190	SELENON	ORPHA:2020
HP:0001376	Limitation of joint mobility	58	ACTA1	ORPHA:97244
HP:0001376	Limitation of joint mobility	58	ACTA1	ORPHA:2020
HP:0001376	Limitation of joint mobility	83932	SPRTN	OMIM:616200
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:75840
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:536516
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:610
HP:0001376	Limitation of joint mobility	1291	COL6A1	ORPHA:75840
HP:0001376	Limitation of joint mobility	1291	COL6A1	ORPHA:610
HP:0001376	Limitation of joint mobility	1291	COL6A1	OMIM:158810
HP:0001376	Limitation of joint mobility	1292	COL6A2	ORPHA:75840
HP:0001376	Limitation of joint mobility	1292	COL6A2	ORPHA:610
HP:0001376	Limitation of joint mobility	1292	COL6A2	OMIM:158810
HP:0001376	Limitation of joint mobility	1293	COL6A3	ORPHA:75840
HP:0001376	Limitation of joint mobility	1293	COL6A3	ORPHA:610
HP:0001376	Limitation of joint mobility	1293	COL6A3	OMIM:158810
HP:0001376	Limitation of joint mobility	6840	SVIL	OMIM:619040
HP:0001376	Limitation of joint mobility	55315	SLC29A3	OMIM:602782
HP:0001376	Limitation of joint mobility	825	CAPN3	ORPHA:267
HP:0001376	Limitation of joint mobility	91179	SCARF2	OMIM:600920
HP:0001376	Limitation of joint mobility	3714	JAG2	OMIM:619566
HP:0001376	Limitation of joint mobility	6536	SLC6A9	OMIM:617301
HP:0001376	Limitation of joint mobility	5831	PYCR1	OMIM:614438
HP:0001376	Limitation of joint mobility	5351	PLOD1	ORPHA:1900
HP:0001376	Limitation of joint mobility	7020	TFAP2A	OMIM:113620
HP:0001376	Limitation of joint mobility	4633	MYL2	ORPHA:2020
HP:0001376	Limitation of joint mobility	3679	ITGA7	ORPHA:2020
HP:0001376	Limitation of joint mobility	9200	HACD1	ORPHA:2020
HP:0001376	Limitation of joint mobility	7170	TPM3	ORPHA:2020
HP:0001376	Limitation of joint mobility	51776	MAP3K20	ORPHA:2020
HP:0001376	Limitation of joint mobility	127833	SYT2	OMIM:619461
HP:0001376	Limitation of joint mobility	54681	P4HTM	OMIM:618493
HP:0001376	Limitation of joint mobility	5277	PIGA	OMIM:300868
HP:0001376	Limitation of joint mobility	8985	PLOD3	OMIM:612394
HP:0001376	Limitation of joint mobility	545	ATR	OMIM:210600
HP:0001376	Limitation of joint mobility	3908	LAMA2	OMIM:618138
HP:0001376	Limitation of joint mobility	2783	GNB2	OMIM:619503
HP:0001376	Limitation of joint mobility	4632	MYL1	OMIM:618414
HP:0001376	Limitation of joint mobility	9653	HS2ST1	OMIM:619194
HP:0001376	Limitation of joint mobility	84065	TMEM222	OMIM:619470
HP:0001376	Limitation of joint mobility	3835	KIF22	ORPHA:93360
HP:0001376	Limitation of joint mobility	6628	SNRPB	OMIM:117650
HP:0001376	Limitation of joint mobility	29895	MYL11	OMIM:619110
HP:0001376	Limitation of joint mobility	340419	RSPO2	OMIM:618022
HP:0001376	Limitation of joint mobility	285175	UNC80	ORPHA:371364
HP:0001376	Limitation of joint mobility	84992	PIGY	OMIM:616809
HP:0001376	Limitation of joint mobility	2222	FDFT1	OMIM:618156
HP:0001376	Limitation of joint mobility	9215	LARGE1	OMIM:608840
HP:0001376	Limitation of joint mobility	1376	CPT2	OMIM:608836
HP:0001376	Limitation of joint mobility	342035	GLDN	OMIM:617194
HP:0001376	Limitation of joint mobility	5286	PIK3C2A	OMIM:618440
HP:0001376	Limitation of joint mobility	7317	UBA1	ORPHA:1145
HP:0001376	Limitation of joint mobility	23219	FBXO28	OMIM:619777
HP:0001376	Limitation of joint mobility	55681	SCYL2	ORPHA:1143
HP:0001376	Limitation of joint mobility	84570	COL25A1	ORPHA:1143
HP:0001376	Limitation of joint mobility	57222	ERGIC1	ORPHA:1143
HP:0001376	Limitation of joint mobility	64116	SLC39A8	ORPHA:468699
HP:0001376	Limitation of joint mobility	5832	ALDH18A1	ORPHA:447757
HP:0001376	Limitation of joint mobility	6913	TBX15	ORPHA:93333
HP:0001376	Limitation of joint mobility	26229	B3GAT3	OMIM:245600
HP:0001376	Limitation of joint mobility	91137	SLC25A46	OMIM:619303
HP:0001376	Limitation of joint mobility	2706	GJB2	OMIM:148210
HP:0001376	Limitation of joint mobility	5696	PSMB8	OMIM:256040
HP:0001376	Limitation of joint mobility	1756	DMD	ORPHA:206546
HP:0001376	Limitation of joint mobility	203859	ANO5	ORPHA:206549
HP:0001376	Limitation of joint mobility	2137	EXTL3	ORPHA:508533
HP:0001376	Limitation of joint mobility	8243	SMC1A	OMIM:300590
HP:0001376	Limitation of joint mobility	145173	B3GLCT	OMIM:261540
HP:0001376	Limitation of joint mobility	57167	SALL4	OMIM:147750
HP:0001376	Limitation of joint mobility	8815	BANF1	OMIM:614008
HP:0001376	Limitation of joint mobility	6473	SHOX	OMIM:127300
HP:0001376	Limitation of joint mobility	8291	DYSF	ORPHA:268
HP:0001376	Limitation of joint mobility	5781	PTPN11	OMIM:151100
HP:0001376	Limitation of joint mobility	9427	ECEL1	OMIM:615065
HP:0001376	Limitation of joint mobility	3265	HRAS	OMIM:218040
HP:0001376	Limitation of joint mobility	2273	FHL1	OMIM:300280
HP:0001376	Limitation of joint mobility	9126	SMC3	OMIM:610759
HP:0001376	Limitation of joint mobility	4054	LTBP3	OMIM:617809
HP:0001376	Limitation of joint mobility	56896	DPYSL5	OMIM:619435
HP:0001376	Limitation of joint mobility	6335	SCN9A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6335	SCN9A	ORPHA:36387
HP:0001376	Limitation of joint mobility	6326	SCN2A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6326	SCN2A	ORPHA:36387
HP:0001376	Limitation of joint mobility	2554	GABRA1	ORPHA:33069
HP:0001376	Limitation of joint mobility	6323	SCN1A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6323	SCN1A	ORPHA:36387
HP:0001376	Limitation of joint mobility	6324	SCN1B	ORPHA:33069
HP:0001376	Limitation of joint mobility	6324	SCN1B	ORPHA:36387
HP:0001376	Limitation of joint mobility	57526	PCDH19	ORPHA:33069
HP:0001376	Limitation of joint mobility	2566	GABRG2	ORPHA:33069
HP:0001376	Limitation of joint mobility	2566	GABRG2	ORPHA:36387
HP:0001376	Limitation of joint mobility	112755	STX1B	ORPHA:36387
HP:0001376	Limitation of joint mobility	348980	HCN1	ORPHA:36387
HP:0001376	Limitation of joint mobility	84059	ADGRV1	ORPHA:36387
HP:0001376	Limitation of joint mobility	2260	FGFR1	OMIM:101600
HP:0001376	Limitation of joint mobility	9241	NOG	ORPHA:3250
HP:0001376	Limitation of joint mobility	7476	WNT7A	OMIM:276820
HP:0001376	Limitation of joint mobility	4593	MUSK	OMIM:208150
HP:0001376	Limitation of joint mobility	667	DST	OMIM:614653
HP:0001376	Limitation of joint mobility	9469	CHST3	OMIM:143095
HP:0001376	Limitation of joint mobility	339855	KY	OMIM:617114
HP:0001376	Limitation of joint mobility	4784	NFIX	OMIM:602535
HP:0001376	Limitation of joint mobility	7138	TNNT1	OMIM:605355
HP:0001376	Limitation of joint mobility	51305	KCNK9	ORPHA:166108
HP:0001376	Limitation of joint mobility	10216	PRG4	OMIM:208250
HP:0001376	Limitation of joint mobility	654	BMP6	ORPHA:465508
HP:0001376	Limitation of joint mobility	3077	HFE	ORPHA:465508
HP:0001376	Limitation of joint mobility	9401	RECQL4	OMIM:266280
HP:0001376	Limitation of joint mobility	9968	MED12	ORPHA:93932
HP:0001376	Limitation of joint mobility	7474	WNT5A	OMIM:180700
HP:0001376	Limitation of joint mobility	1855	DVL1	OMIM:180700
HP:0001376	Limitation of joint mobility	54332	GDAP1	ORPHA:99948
HP:0001376	Limitation of joint mobility	9987	HNRNPDL	OMIM:609115
HP:0001376	Limitation of joint mobility	3848	KRT1	ORPHA:530838
HP:0001376	Limitation of joint mobility	8292	COLQ	ORPHA:98915
HP:0001376	Limitation of joint mobility	3913	LAMB2	ORPHA:98915
HP:0001376	Limitation of joint mobility	10020	GNE	ORPHA:602
HP:0001376	Limitation of joint mobility	5745	PTH1R	ORPHA:79106
HP:0001376	Limitation of joint mobility	9499	MYOT	ORPHA:266
HP:0001376	Limitation of joint mobility	2535	FZD2	OMIM:164745
HP:0001376	Limitation of joint mobility	7415	VCP	ORPHA:435387
HP:0001376	Limitation of joint mobility	2318	FLNC	ORPHA:63273
HP:0001376	Limitation of joint mobility	4233	MET	OMIM:620019
HP:0001376	Limitation of joint mobility	4091	SMAD6	OMIM:179300
HP:0001376	Limitation of joint mobility	10584	COLEC10	ORPHA:293843
HP:0001376	Limitation of joint mobility	5648	MASP1	ORPHA:293843
HP:0001376	Limitation of joint mobility	78989	COLEC11	ORPHA:293843
HP:0001376	Limitation of joint mobility	2122	MECOM	OMIM:616738
HP:0001376	Limitation of joint mobility	3207	HOXA11	OMIM:605432
HP:0001376	Limitation of joint mobility	387733	IFITM5	OMIM:610967
HP:0001376	Limitation of joint mobility	91461	PKDCC	OMIM:618821
HP:0001376	Limitation of joint mobility	6442	SGCA	ORPHA:62
HP:0001376	Limitation of joint mobility	6812	STXBP1	ORPHA:495818
HP:0001376	Limitation of joint mobility	145258	GSC	OMIM:602471
HP:0001376	Limitation of joint mobility	4313	MMP2	OMIM:259600
HP:0001376	Limitation of joint mobility	7273	TTN	ORPHA:178464
HP:0001376	Limitation of joint mobility	7169	TPM2	OMIM:108120
HP:0001376	Limitation of joint mobility	427	ASAH1	OMIM:228000
HP:0001376	Limitation of joint mobility	1861	TOR1A	OMIM:618947
HP:0001376	Limitation of joint mobility	649	BMP1	OMIM:614856
HP:0001376	Limitation of joint mobility	3081	HGD	OMIM:203500
HP:0001376	Limitation of joint mobility	7337	UBE3A	ORPHA:98794
HP:0001376	Limitation of joint mobility	4948	OCA2	ORPHA:98794
HP:0001376	Limitation of joint mobility	6885	MAP3K7	ORPHA:1826
HP:0001376	Limitation of joint mobility	4625	MYH7	ORPHA:437572
HP:0001376	Limitation of joint mobility	123606	NIPA1	ORPHA:100988
HP:0001376	Limitation of joint mobility	91754	NEK9	OMIM:617022
HP:0001376	Limitation of joint mobility	4722	NDUFS3	OMIM:618230
HP:0001376	Limitation of joint mobility	22943	DKK1	ORPHA:268882
HP:0001376	Limitation of joint mobility	54820	NDE1	ORPHA:2177
HP:0001376	Limitation of joint mobility	6926	TBX3	OMIM:181450
HP:0001376	Limitation of joint mobility	26040	SETBP1	ORPHA:798
HP:0001376	Limitation of joint mobility	8398	PLA2G6	ORPHA:199351
HP:0001376	Limitation of joint mobility	6399	TRAPPC2	ORPHA:93284
HP:0001376	Limitation of joint mobility	1836	SLC26A2	ORPHA:93307
HP:0001376	Limitation of joint mobility	57211	ADGRG6	OMIM:616503
HP:0001376	Limitation of joint mobility	51360	MBTPS2	ORPHA:659
HP:0001376	Limitation of joint mobility	162514	TRPV3	ORPHA:659
HP:0001376	Limitation of joint mobility	64065	PERP	ORPHA:659
HP:0001376	Limitation of joint mobility	2773	GNAI3	OMIM:602483
HP:0001376	Limitation of joint mobility	5167	ENPP1	OMIM:208000
HP:0011591	Left aortic arch with cervical origin of the right subclavian artery	5337	PLD1	OMIM:212093
HP:0011590	Double aortic arch	100128908	CIROP	OMIM:619702
HP:0011590	Double aortic arch	9894	TELO2	OMIM:616954
HP:0011590	Double aortic arch	9993	DGCR2	OMIM:192430
HP:0011590	Double aortic arch	8220	ESS2	OMIM:192430
HP:0011590	Double aortic arch	8214	DGCR6	OMIM:192430
HP:0011590	Double aortic arch	54487	DGCR8	OMIM:192430
HP:0011590	Double aortic arch	6899	TBX1	OMIM:192430
HP:0011590	Double aortic arch	2629	GBA1	OMIM:230900
HP:0011590	Double aortic arch	2324	FLT4	OMIM:618780
HP:0011595	Left aortic arch with retroesophageal right subclavian artery	10526	IPO8	OMIM:619472
HP:0011599	Mesocardia	745	MYRF	OMIM:618280
HP:0011599	Mesocardia	10847	SRCAP	ORPHA:2044
HP:0011599	Mesocardia	10847	SRCAP	OMIM:136140
HP:0011599	Mesocardia	55997	CFC1	OMIM:605376
HP:0000358	Posteriorly rotated ears	1718	DHCR24	OMIM:602398
HP:0000358	Posteriorly rotated ears	7528	YY1	ORPHA:506358
HP:0000358	Posteriorly rotated ears	7528	YY1	OMIM:617557
HP:0000358	Posteriorly rotated ears	8036	SHOC2	OMIM:607721
HP:0000358	Posteriorly rotated ears	10262	SF3B4	OMIM:154400
HP:0000358	Posteriorly rotated ears	8294	H4C9	OMIM:619951
HP:0000358	Posteriorly rotated ears	9853	RUSC2	OMIM:617773
HP:0000358	Posteriorly rotated ears	6659	SOX4	OMIM:618506
HP:0000358	Posteriorly rotated ears	161742	SPRED1	OMIM:611431
HP:0000358	Posteriorly rotated ears	51126	NAA20	OMIM:619717
HP:0000358	Posteriorly rotated ears	673	BRAF	OMIM:115150
HP:0000358	Posteriorly rotated ears	673	BRAF	OMIM:613707
HP:0000358	Posteriorly rotated ears	55627	SMPD4	OMIM:618622
HP:0000358	Posteriorly rotated ears	4897	NRCAM	OMIM:619833
HP:0000358	Posteriorly rotated ears	23126	POGZ	ORPHA:468678
HP:0000358	Posteriorly rotated ears	23126	POGZ	OMIM:616364
HP:0000358	Posteriorly rotated ears	4784	NFIX	ORPHA:447980
HP:0000358	Posteriorly rotated ears	4281	MID1	OMIM:300000
HP:0000358	Posteriorly rotated ears	4281	MID1	ORPHA:2745
HP:0000358	Posteriorly rotated ears	374654	KIF7	OMIM:200990
HP:0000358	Posteriorly rotated ears	3020	H3-3A	OMIM:619720
HP:0000358	Posteriorly rotated ears	80816	ASXL3	OMIM:615485
HP:0000358	Posteriorly rotated ears	129563	DIS3L2	ORPHA:2849
HP:0000358	Posteriorly rotated ears	25782	RAB3GAP2	OMIM:212720
HP:0000358	Posteriorly rotated ears	4286	MITF	OMIM:617306
HP:0000358	Posteriorly rotated ears	10225	CD96	OMIM:211750
HP:0000358	Posteriorly rotated ears	9382	COG1	OMIM:611209
HP:0000358	Posteriorly rotated ears	5189	PEX1	OMIM:214100
HP:0000358	Posteriorly rotated ears	55650	PIGV	OMIM:239300
HP:0000358	Posteriorly rotated ears	6595	SMARCA2	OMIM:619293
HP:0000358	Posteriorly rotated ears	6595	SMARCA2	OMIM:601358
HP:0000358	Posteriorly rotated ears	2590	GALNT2	OMIM:618885
HP:0000358	Posteriorly rotated ears	57492	ARID1B	OMIM:135900
HP:0000358	Posteriorly rotated ears	64324	NSD1	OMIM:117550
HP:0000358	Posteriorly rotated ears	80204	FBXO11	OMIM:618089
HP:0000358	Posteriorly rotated ears	5119	CHMP1A	OMIM:614961
HP:0000358	Posteriorly rotated ears	1889	ECE1	OMIM:613870
HP:0000358	Posteriorly rotated ears	64359	NXN	OMIM:618529
HP:0000358	Posteriorly rotated ears	23184	MESD	OMIM:618644
HP:0000358	Posteriorly rotated ears	55858	TMEM165	OMIM:614727
HP:0000358	Posteriorly rotated ears	8546	AP3B1	OMIM:608233
HP:0000358	Posteriorly rotated ears	3339	HSPG2	ORPHA:1865
HP:0000358	Posteriorly rotated ears	3339	HSPG2	OMIM:224410
HP:0000358	Posteriorly rotated ears	7020	TFAP2A	OMIM:113620
HP:0000358	Posteriorly rotated ears	1717	DHCR7	OMIM:270400
HP:0000358	Posteriorly rotated ears	23116	TOGARAM1	OMIM:619185
HP:0000358	Posteriorly rotated ears	9401	RECQL4	OMIM:218600
HP:0000358	Posteriorly rotated ears	9839	ZEB2	ORPHA:261552
HP:0000358	Posteriorly rotated ears	9839	ZEB2	ORPHA:261537
HP:0000358	Posteriorly rotated ears	652	BMP4	OMIM:607932
HP:0000358	Posteriorly rotated ears	4330	MN1	OMIM:618774
HP:0000358	Posteriorly rotated ears	6885	MAP3K7	OMIM:157800
HP:0000358	Posteriorly rotated ears	55012	PPP2R3C	OMIM:618419
HP:0000358	Posteriorly rotated ears	1954	MEGF8	OMIM:614976
HP:0000358	Posteriorly rotated ears	23314	SATB2	OMIM:612313
HP:0000358	Posteriorly rotated ears	4598	MVK	OMIM:610377
HP:0000358	Posteriorly rotated ears	200734	SPRED2	OMIM:619745
HP:0000358	Posteriorly rotated ears	4036	LRP2	ORPHA:2143
HP:0000358	Posteriorly rotated ears	4036	LRP2	OMIM:222448
HP:0000358	Posteriorly rotated ears	26005	C2CD3	OMIM:615948
HP:0000358	Posteriorly rotated ears	3265	HRAS	OMIM:218040
HP:0000358	Posteriorly rotated ears	4247	MGAT2	OMIM:212066
HP:0000358	Posteriorly rotated ears	4247	MGAT2	ORPHA:79329
HP:0000358	Posteriorly rotated ears	2773	GNAI3	OMIM:602483
HP:0000358	Posteriorly rotated ears	8241	RBM10	OMIM:311900
HP:0000358	Posteriorly rotated ears	6234	RPS28	OMIM:606164
HP:0000358	Posteriorly rotated ears	9653	HS2ST1	OMIM:619194
HP:0000358	Posteriorly rotated ears	253738	EBF3	OMIM:617330
HP:0000358	Posteriorly rotated ears	8493	PPM1D	OMIM:617450
HP:0000358	Posteriorly rotated ears	26038	CHD5	OMIM:619873
HP:0000358	Posteriorly rotated ears	1182	CLCN3	OMIM:619512
HP:0000358	Posteriorly rotated ears	4593	MUSK	OMIM:208150
HP:0000358	Posteriorly rotated ears	4593	MUSK	ORPHA:994
HP:0000358	Posteriorly rotated ears	29081	METTL5	OMIM:618665
HP:0000358	Posteriorly rotated ears	6905	TBCE	OMIM:241410
HP:0000358	Posteriorly rotated ears	57680	CHD8	OMIM:615032
HP:0000358	Posteriorly rotated ears	8558	CDK10	OMIM:617694
HP:0000358	Posteriorly rotated ears	3572	IL6ST	OMIM:619750
HP:0000358	Posteriorly rotated ears	56006	SMG9	OMIM:616920
HP:0000358	Posteriorly rotated ears	1857	DVL3	ORPHA:3107
HP:0000358	Posteriorly rotated ears	7474	WNT5A	ORPHA:3107
HP:0000358	Posteriorly rotated ears	7474	WNT5A	OMIM:180700
HP:0000358	Posteriorly rotated ears	1855	DVL1	ORPHA:3107
HP:0000358	Posteriorly rotated ears	1855	DVL1	OMIM:180700
HP:0000358	Posteriorly rotated ears	2535	FZD2	ORPHA:3107
HP:0000358	Posteriorly rotated ears	2535	FZD2	OMIM:164745
HP:0000358	Posteriorly rotated ears	3845	KRAS	OMIM:615278
HP:0000358	Posteriorly rotated ears	3845	KRAS	OMIM:609942
HP:0000358	Posteriorly rotated ears	6660	SOX5	OMIM:616803
HP:0000358	Posteriorly rotated ears	285175	UNC80	OMIM:616801
HP:0000358	Posteriorly rotated ears	3211	HOXB1	OMIM:614744
HP:0000358	Posteriorly rotated ears	54499	TMCO1	OMIM:213980
HP:0000358	Posteriorly rotated ears	11128	POLR3A	OMIM:264090
HP:0000358	Posteriorly rotated ears	11128	POLR3A	ORPHA:3455
HP:0000358	Posteriorly rotated ears	79718	TBL1XR1	OMIM:602342
HP:0000358	Posteriorly rotated ears	79718	TBL1XR1	ORPHA:487825
HP:0000358	Posteriorly rotated ears	4094	MAF	ORPHA:1272
HP:0000358	Posteriorly rotated ears	4094	MAF	OMIM:601088
HP:0000358	Posteriorly rotated ears	7750	ZMYM2	OMIM:619522
HP:0000358	Posteriorly rotated ears	5594	MAPK1	OMIM:619087
HP:0000358	Posteriorly rotated ears	6942	TCF20	OMIM:618430
HP:0000358	Posteriorly rotated ears	55670	PEX26	OMIM:614872
HP:0000358	Posteriorly rotated ears	2263	FGFR2	OMIM:123790
HP:0000358	Posteriorly rotated ears	23261	CAMTA1	OMIM:614756
HP:0000358	Posteriorly rotated ears	4763	NF1	OMIM:193520
HP:0000358	Posteriorly rotated ears	4763	NF1	OMIM:601321
HP:0000358	Posteriorly rotated ears	9772	TMEM94	OMIM:618316
HP:0000358	Posteriorly rotated ears	388015	RTL1	ORPHA:96334
HP:0000358	Posteriorly rotated ears	8788	DLK1	ORPHA:96334
HP:0000358	Posteriorly rotated ears	55384	MEG3	ORPHA:96334
HP:0000358	Posteriorly rotated ears	6231	RPS26	OMIM:613309
HP:0000358	Posteriorly rotated ears	2316	FLNA	OMIM:304120
HP:0000358	Posteriorly rotated ears	56975	FAM20C	ORPHA:1832
HP:0000358	Posteriorly rotated ears	56975	FAM20C	OMIM:259775
HP:0000358	Posteriorly rotated ears	55691	FRMD4A	OMIM:616819
HP:0000358	Posteriorly rotated ears	4920	ROR2	OMIM:268310
HP:0000358	Posteriorly rotated ears	51322	WAC	ORPHA:284169
HP:0000358	Posteriorly rotated ears	51322	WAC	OMIM:616708
HP:0000358	Posteriorly rotated ears	51322	WAC	ORPHA:466950
HP:0000358	Posteriorly rotated ears	23556	PIGN	OMIM:614080
HP:0000358	Posteriorly rotated ears	4621	MYH3	OMIM:178110
HP:0000358	Posteriorly rotated ears	7030	TFE3	OMIM:301066
HP:0000358	Posteriorly rotated ears	9968	MED12	OMIM:300895
HP:0000358	Posteriorly rotated ears	6603	SMARCD2	OMIM:617475
HP:0000358	Posteriorly rotated ears	546	ATRX	OMIM:309580
HP:0000358	Posteriorly rotated ears	546	ATRX	OMIM:301040
HP:0000358	Posteriorly rotated ears	64919	BCL11B	OMIM:617237
HP:0000358	Posteriorly rotated ears	7994	KAT6A	OMIM:616268
HP:0000358	Posteriorly rotated ears	4087	SMAD2	OMIM:619657
HP:0000358	Posteriorly rotated ears	701	BUB1B	OMIM:257300
HP:0000358	Posteriorly rotated ears	157570	ESCO2	OMIM:268300
HP:0000358	Posteriorly rotated ears	171023	ASXL1	OMIM:605039
HP:0000358	Posteriorly rotated ears	8295	TRRAP	OMIM:618454
HP:0000358	Posteriorly rotated ears	9742	IFT140	OMIM:266920
HP:0000358	Posteriorly rotated ears	5781	PTPN11	OMIM:151100
HP:0000358	Posteriorly rotated ears	29123	ANKRD11	OMIM:148050
HP:0000358	Posteriorly rotated ears	8621	CDK13	OMIM:617360
HP:0000358	Posteriorly rotated ears	2033	EP300	OMIM:613684
HP:0000358	Posteriorly rotated ears	867	CBL	OMIM:613563
HP:0000358	Posteriorly rotated ears	22907	DHX30	OMIM:617804
HP:0000358	Posteriorly rotated ears	5426	POLE	OMIM:618336
HP:0000358	Posteriorly rotated ears	5081	PAX7	OMIM:618578
HP:0000358	Posteriorly rotated ears	51053	GMNN	OMIM:616835
HP:0000358	Posteriorly rotated ears	51053	GMNN	ORPHA:2554
HP:0000358	Posteriorly rotated ears	10664	CTCF	OMIM:615502
HP:0000358	Posteriorly rotated ears	2200	FBN1	ORPHA:2462
HP:0000358	Posteriorly rotated ears	6497	SKI	ORPHA:2462
HP:0000358	Posteriorly rotated ears	6497	SKI	OMIM:182212
HP:0000358	Posteriorly rotated ears	164	AP1G1	OMIM:619548
HP:0000358	Posteriorly rotated ears	6664	SOX11	OMIM:615866
HP:0000358	Posteriorly rotated ears	63895	PIEZO2	ORPHA:2461
HP:0000358	Posteriorly rotated ears	196528	ARID2	OMIM:617808
HP:0000358	Posteriorly rotated ears	8216	LZTR1	OMIM:605275
HP:0000358	Posteriorly rotated ears	6654	SOS1	OMIM:610733
HP:0000358	Posteriorly rotated ears	10075	HUWE1	OMIM:309590
HP:0000358	Posteriorly rotated ears	2879	GPX4	OMIM:250220
HP:0000358	Posteriorly rotated ears	64132	XYLT2	OMIM:605822
HP:0000358	Posteriorly rotated ears	9488	PIGB	OMIM:618580
HP:0000358	Posteriorly rotated ears	84706	GPT2	OMIM:616281
HP:0000358	Posteriorly rotated ears	55906	ZC4H2	OMIM:301041
HP:0000358	Posteriorly rotated ears	8504	PEX3	OMIM:617370
HP:0000358	Posteriorly rotated ears	8243	SMC1A	OMIM:301044
HP:0000358	Posteriorly rotated ears	8925	HERC1	OMIM:617011
HP:0000358	Posteriorly rotated ears	5898	RALA	OMIM:619311
HP:0000358	Posteriorly rotated ears	10466	COG5	ORPHA:263487
HP:0000358	Posteriorly rotated ears	6477	SIAH1	OMIM:619314
HP:0000358	Posteriorly rotated ears	2335	FN1	ORPHA:93315
HP:0000358	Posteriorly rotated ears	1280	COL2A1	ORPHA:93315
HP:0000358	Posteriorly rotated ears	23394	ADNP	OMIM:615873
HP:0000358	Posteriorly rotated ears	8092	ALX1	OMIM:613456
HP:0000358	Posteriorly rotated ears	5332	PLCB4	OMIM:614669
HP:0000358	Posteriorly rotated ears	6418	SET	OMIM:618106
HP:0000358	Posteriorly rotated ears	65062	TMEM237	OMIM:614424
HP:0000358	Posteriorly rotated ears	50814	NSDHL	ORPHA:251383
HP:0000358	Posteriorly rotated ears	50814	NSDHL	OMIM:300831
HP:0000358	Posteriorly rotated ears	55593	OTUD5	OMIM:301056
HP:0000358	Posteriorly rotated ears	56945	MRPS22	OMIM:611719
HP:0000358	Posteriorly rotated ears	128869	PIGU	OMIM:618590
HP:0000358	Posteriorly rotated ears	5575	PRKAR1B	OMIM:619680
HP:0000358	Posteriorly rotated ears	7707	ZNF148	OMIM:617260
HP:0000358	Posteriorly rotated ears	10847	SRCAP	OMIM:136140
HP:0000358	Posteriorly rotated ears	1349	COX7B	OMIM:300887
HP:0000358	Posteriorly rotated ears	91179	SCARF2	OMIM:600920
HP:0000358	Posteriorly rotated ears	4854	NOTCH3	OMIM:130720
HP:0000358	Posteriorly rotated ears	4854	NOTCH3	ORPHA:2789
HP:0000358	Posteriorly rotated ears	6647	SOD1	OMIM:618598
HP:0000358	Posteriorly rotated ears	29998	BICRA	OMIM:619325
HP:0000358	Posteriorly rotated ears	5859	QARS1	OMIM:615760
HP:0000358	Posteriorly rotated ears	23030	KDM4B	OMIM:619320
HP:0000358	Posteriorly rotated ears	84162	BLTP1	OMIM:617822
HP:0000358	Posteriorly rotated ears	473	RERE	OMIM:616975
HP:0000358	Posteriorly rotated ears	2782	GNB1	OMIM:616973
HP:0000358	Posteriorly rotated ears	998	CDC42	OMIM:616737
HP:0000358	Posteriorly rotated ears	4081	MAB21L1	OMIM:618479
HP:0000358	Posteriorly rotated ears	5831	PYCR1	OMIM:614438
HP:0000358	Posteriorly rotated ears	10982	MAPRE2	OMIM:616734
HP:0000358	Posteriorly rotated ears	176	ACAN	OMIM:612813
HP:0000358	Posteriorly rotated ears	176	ACAN	ORPHA:171866
HP:0000358	Posteriorly rotated ears	2067	ERCC1	OMIM:610758
HP:0000358	Posteriorly rotated ears	9126	SMC3	OMIM:610759
HP:0000358	Posteriorly rotated ears	4131	MAP1B	OMIM:618918
HP:0000358	Posteriorly rotated ears	84892	POMGNT2	ORPHA:899
HP:0000358	Posteriorly rotated ears	148789	B3GALNT2	ORPHA:899
HP:0000358	Posteriorly rotated ears	79147	FKRP	ORPHA:899
HP:0000358	Posteriorly rotated ears	29954	POMT2	ORPHA:899
HP:0000358	Posteriorly rotated ears	9215	LARGE1	ORPHA:899
HP:0000358	Posteriorly rotated ears	1282	COL4A1	ORPHA:899
HP:0000358	Posteriorly rotated ears	729920	CRPPA	ORPHA:899
HP:0000358	Posteriorly rotated ears	10329	RXYLT1	ORPHA:899
HP:0000358	Posteriorly rotated ears	1605	DAG1	ORPHA:899
HP:0000358	Posteriorly rotated ears	11041	B4GAT1	ORPHA:899
HP:0000358	Posteriorly rotated ears	10585	POMT1	ORPHA:899
HP:0000358	Posteriorly rotated ears	84197	POMK	ORPHA:899
HP:0000358	Posteriorly rotated ears	2218	FKTN	ORPHA:899
HP:0000358	Posteriorly rotated ears	55624	POMGNT1	ORPHA:899
HP:0000358	Posteriorly rotated ears	90161	HS6ST2	OMIM:301025
HP:0000358	Posteriorly rotated ears	3756	KCNH1	OMIM:135500
HP:0000358	Posteriorly rotated ears	81620	CDT1	ORPHA:2554
HP:0000358	Posteriorly rotated ears	5000	ORC4	ORPHA:2554
HP:0000358	Posteriorly rotated ears	23594	ORC6	ORPHA:2554
HP:0000358	Posteriorly rotated ears	23594	ORC6	OMIM:613803
HP:0000358	Posteriorly rotated ears	8318	CDC45	ORPHA:2554
HP:0000358	Posteriorly rotated ears	990	CDC6	ORPHA:2554
HP:0000358	Posteriorly rotated ears	4998	ORC1	ORPHA:2554
HP:0000358	Posteriorly rotated ears	1009	CDH11	OMIM:211380
HP:0000358	Posteriorly rotated ears	1000	CDH2	OMIM:618929
HP:0000358	Posteriorly rotated ears	22827	PUF60	ORPHA:508488
HP:0000358	Posteriorly rotated ears	63931	MRPS14	OMIM:618378
HP:0000358	Posteriorly rotated ears	22808	MRAS	OMIM:618499
HP:0000358	Posteriorly rotated ears	23522	KAT6B	OMIM:603736
HP:0000358	Posteriorly rotated ears	23522	KAT6B	ORPHA:3047
HP:0000358	Posteriorly rotated ears	79796	ALG9	OMIM:263210
HP:0000358	Posteriorly rotated ears	1822	ATN1	OMIM:618494
HP:0000358	Posteriorly rotated ears	5144	PDE4D	ORPHA:439822
HP:0000358	Posteriorly rotated ears	4613	MYCN	OMIM:164280
HP:0000358	Posteriorly rotated ears	6304	SATB1	OMIM:619229
HP:0000358	Posteriorly rotated ears	139285	AMER1	ORPHA:2780
HP:0000358	Posteriorly rotated ears	139285	AMER1	OMIM:300373
HP:0000358	Posteriorly rotated ears	158326	FREM1	OMIM:608980
HP:0000358	Posteriorly rotated ears	2737	GLI3	OMIM:146510
HP:0000358	Posteriorly rotated ears	4927	NUP88	ORPHA:994
HP:0000358	Posteriorly rotated ears	4927	NUP88	OMIM:618393
HP:0000358	Posteriorly rotated ears	7846	TUBA1A	ORPHA:994
HP:0000358	Posteriorly rotated ears	4654	MYOD1	ORPHA:994
HP:0000358	Posteriorly rotated ears	5913	RAPSN	ORPHA:994
HP:0000358	Posteriorly rotated ears	6572	SLC18A3	ORPHA:994
HP:0000358	Posteriorly rotated ears	285489	DOK7	ORPHA:994
HP:0000358	Posteriorly rotated ears	9851	KIAA0753	OMIM:619476
HP:0000358	Posteriorly rotated ears	9851	KIAA0753	OMIM:619479
HP:0000358	Posteriorly rotated ears	6628	SNRPB	OMIM:117650
HP:0000358	Posteriorly rotated ears	8812	CCNK	OMIM:618147
HP:0000358	Posteriorly rotated ears	65250	CPLANE1	OMIM:277170
HP:0000358	Posteriorly rotated ears	5977	DPF2	OMIM:618027
HP:0000358	Posteriorly rotated ears	10526	IPO8	OMIM:619472
HP:0000358	Posteriorly rotated ears	94005	PIGS	OMIM:618143
HP:0000358	Posteriorly rotated ears	145173	B3GLCT	OMIM:261540
HP:0000358	Posteriorly rotated ears	8929	PHOX2B	OMIM:209880
HP:0000358	Posteriorly rotated ears	29957	SLC25A24	OMIM:612289
HP:0000358	Posteriorly rotated ears	8405	SPOP	OMIM:618829
HP:0000358	Posteriorly rotated ears	11198	SUPT16H	OMIM:619480
HP:0000358	Posteriorly rotated ears	8720	MBTPS1	OMIM:618392
HP:0000358	Posteriorly rotated ears	284252	KCTD1	OMIM:181270
HP:0000358	Posteriorly rotated ears	10682	EBP	OMIM:300960
HP:0000358	Posteriorly rotated ears	113189	CHST14	OMIM:601776
HP:0000358	Posteriorly rotated ears	54880	BCOR	OMIM:300166
HP:0000358	Posteriorly rotated ears	3636	INPPL1	OMIM:258480
HP:0000358	Posteriorly rotated ears	2222	FDFT1	OMIM:618156
HP:0000358	Posteriorly rotated ears	203068	TUBB	OMIM:156610
HP:0000358	Posteriorly rotated ears	374879	ZNF699	OMIM:619488
HP:0000358	Posteriorly rotated ears	8239	USP9X	OMIM:300968
HP:0000358	Posteriorly rotated ears	114928	GPRASP2	OMIM:301018
HP:0000358	Posteriorly rotated ears	83737	ITCH	OMIM:613385
HP:0000358	Posteriorly rotated ears	202018	TAPT1	OMIM:616897
HP:0000358	Posteriorly rotated ears	28957	MRPS28	OMIM:618958
HP:0000358	Posteriorly rotated ears	5500	PPP1CB	OMIM:617506
HP:0000358	Posteriorly rotated ears	64093	SMOC1	OMIM:206920
HP:0000358	Posteriorly rotated ears	118924	FRA10AC1	OMIM:620113
HP:0000358	Posteriorly rotated ears	2273	FHL1	OMIM:300280
HP:0000358	Posteriorly rotated ears	55252	ASXL2	OMIM:617190
HP:0000358	Posteriorly rotated ears	1376	CPT2	OMIM:608836
HP:0000358	Posteriorly rotated ears	126792	B3GALT6	ORPHA:536467
HP:0000358	Posteriorly rotated ears	650	BMP2	OMIM:617877
HP:0000358	Posteriorly rotated ears	100151683	RNU4ATAC	ORPHA:2636
HP:0000358	Posteriorly rotated ears	8777	MPDZ	OMIM:615219
HP:0000358	Posteriorly rotated ears	170692	ADAMTS18	OMIM:615458
HP:0000358	Posteriorly rotated ears	9757	KMT2B	OMIM:619934
HP:0000358	Posteriorly rotated ears	84081	NSRP1	OMIM:620001
HP:0000358	Posteriorly rotated ears	1302	COL11A2	ORPHA:1427
HP:0000358	Posteriorly rotated ears	26123	TCTN3	ORPHA:2753
HP:0000358	Posteriorly rotated ears	11011	TLK2	OMIM:618050
HP:0000358	Posteriorly rotated ears	6913	TBX15	OMIM:260660
HP:0000358	Posteriorly rotated ears	55181	SMG8	OMIM:619268
HP:0000358	Posteriorly rotated ears	101929726	MYMX	OMIM:619941
HP:0000358	Posteriorly rotated ears	23404	EXOSC2	OMIM:617763
HP:0000358	Posteriorly rotated ears	8665	EIF3F	OMIM:618295
HP:0000358	Posteriorly rotated ears	4921	DDR2	OMIM:618175
HP:0000358	Posteriorly rotated ears	10736	SIX2	ORPHA:488437
HP:0000358	Posteriorly rotated ears	10082	GPC6	ORPHA:93329
HP:0000358	Posteriorly rotated ears	2260	FGFR1	OMIM:615465
HP:0000358	Posteriorly rotated ears	8449	DHX16	OMIM:618733
HP:0000358	Posteriorly rotated ears	9373	PLAA	OMIM:617527
HP:0000358	Posteriorly rotated ears	25886	POC1A	OMIM:614813
HP:0000358	Posteriorly rotated ears	8085	KMT2D	OMIM:147920
HP:0000358	Posteriorly rotated ears	7403	KDM6A	OMIM:147920
HP:0000358	Posteriorly rotated ears	341640	FREM2	ORPHA:2052
HP:0000358	Posteriorly rotated ears	80144	FRAS1	ORPHA:2052
HP:0000358	Posteriorly rotated ears	23426	GRIP1	ORPHA:2052
HP:0000358	Posteriorly rotated ears	2733	GLE1	ORPHA:1486
HP:0000358	Posteriorly rotated ears	79848	CSPP1	ORPHA:397715
HP:0000358	Posteriorly rotated ears	79848	CSPP1	ORPHA:564
HP:0000358	Posteriorly rotated ears	9786	KIAA0586	ORPHA:397715
HP:0000358	Posteriorly rotated ears	27125	AFF4	ORPHA:444077
HP:0000358	Posteriorly rotated ears	7372	UMPS	ORPHA:30
HP:0000358	Posteriorly rotated ears	23322	RPGRIP1L	ORPHA:220497
HP:0000358	Posteriorly rotated ears	23322	RPGRIP1L	ORPHA:564
HP:0000358	Posteriorly rotated ears	4867	NPHP1	ORPHA:220497
HP:0000358	Posteriorly rotated ears	4867	NPHP1	ORPHA:110
HP:0000358	Posteriorly rotated ears	72	ACTG2	ORPHA:2604
HP:0000358	Posteriorly rotated ears	54806	AHI1	ORPHA:220493
HP:0000358	Posteriorly rotated ears	56623	INPP5E	ORPHA:220493
HP:0000358	Posteriorly rotated ears	153241	CEP120	ORPHA:220493
HP:0000358	Posteriorly rotated ears	54903	MKS1	ORPHA:220493
HP:0000358	Posteriorly rotated ears	54903	MKS1	ORPHA:564
HP:0000358	Posteriorly rotated ears	54903	MKS1	ORPHA:110
HP:0000358	Posteriorly rotated ears	95681	CEP41	ORPHA:220493
HP:0000358	Posteriorly rotated ears	55780	ERMARD	ORPHA:75857
HP:0000358	Posteriorly rotated ears	55636	CHD7	ORPHA:138
HP:0000358	Posteriorly rotated ears	9723	SEMA3E	ORPHA:138
HP:0000358	Posteriorly rotated ears	4952	OCRL	ORPHA:534
HP:0000358	Posteriorly rotated ears	6023	RMRP	ORPHA:175
HP:0000358	Posteriorly rotated ears	3039	HBA1	ORPHA:98791
HP:0000358	Posteriorly rotated ears	3040	HBA2	ORPHA:98791
HP:0000358	Posteriorly rotated ears	29940	DSE	ORPHA:2953
HP:0000358	Posteriorly rotated ears	134701	RIPPLY2	ORPHA:2311
HP:0000358	Posteriorly rotated ears	10683	DLL3	ORPHA:2311
HP:0000358	Posteriorly rotated ears	3955	LFNG	ORPHA:2311
HP:0000358	Posteriorly rotated ears	84667	HES7	ORPHA:2311
HP:0000358	Posteriorly rotated ears	145873	MESP2	ORPHA:2311
HP:0000358	Posteriorly rotated ears	5604	MAP2K1	ORPHA:1340
HP:0000358	Posteriorly rotated ears	5605	MAP2K2	ORPHA:1340
HP:0000358	Posteriorly rotated ears	5605	MAP2K2	ORPHA:638
HP:0000358	Posteriorly rotated ears	79583	TMEM231	ORPHA:2318
HP:0000358	Posteriorly rotated ears	79583	TMEM231	ORPHA:564
HP:0000358	Posteriorly rotated ears	51524	TMEM138	ORPHA:2318
HP:0000358	Posteriorly rotated ears	23090	ZNF423	ORPHA:2318
HP:0000358	Posteriorly rotated ears	80184	CEP290	ORPHA:2318
HP:0000358	Posteriorly rotated ears	80184	CEP290	ORPHA:564
HP:0000358	Posteriorly rotated ears	80184	CEP290	ORPHA:110
HP:0000358	Posteriorly rotated ears	51259	TMEM216	ORPHA:2318
HP:0000358	Posteriorly rotated ears	51259	TMEM216	ORPHA:564
HP:0000358	Posteriorly rotated ears	51259	TMEM216	ORPHA:2754
HP:0000358	Posteriorly rotated ears	57545	CC2D2A	ORPHA:2318
HP:0000358	Posteriorly rotated ears	57545	CC2D2A	ORPHA:564
HP:0000358	Posteriorly rotated ears	8260	NAA10	ORPHA:568
HP:0000358	Posteriorly rotated ears	84314	TMEM107	ORPHA:564
HP:0000358	Posteriorly rotated ears	79867	TCTN2	ORPHA:564
HP:0000358	Posteriorly rotated ears	80776	B9D2	ORPHA:564
HP:0000358	Posteriorly rotated ears	79600	TCTN1	ORPHA:564
HP:0000358	Posteriorly rotated ears	57096	RPGRIP1	ORPHA:564
HP:0000358	Posteriorly rotated ears	91147	TMEM67	ORPHA:564
HP:0000358	Posteriorly rotated ears	79770	TXNDC15	ORPHA:564
HP:0000358	Posteriorly rotated ears	27077	B9D1	ORPHA:564
HP:0000358	Posteriorly rotated ears	10815	CPLX1	ORPHA:280
HP:0000358	Posteriorly rotated ears	54872	PIGG	ORPHA:280
HP:0000358	Posteriorly rotated ears	7469	NELFA	ORPHA:280
HP:0000358	Posteriorly rotated ears	1487	CTBP1	ORPHA:280
HP:0000358	Posteriorly rotated ears	3954	LETM1	ORPHA:280
HP:0000358	Posteriorly rotated ears	7468	NSD2	ORPHA:280
HP:0000358	Posteriorly rotated ears	9184	BUB3	ORPHA:1052
HP:0000358	Posteriorly rotated ears	699	BUB1	ORPHA:1052
HP:0000358	Posteriorly rotated ears	9702	CEP57	ORPHA:1052
HP:0000358	Posteriorly rotated ears	9319	TRIP13	ORPHA:1052
HP:0000358	Posteriorly rotated ears	1501	CTNND2	ORPHA:281
HP:0000358	Posteriorly rotated ears	9037	SEMA5A	ORPHA:281
HP:0000358	Posteriorly rotated ears	1906	EDN1	ORPHA:137888
HP:0000358	Posteriorly rotated ears	10716	TBR1	ORPHA:1617
HP:0000358	Posteriorly rotated ears	2313	FLI1	ORPHA:2308
HP:0000358	Posteriorly rotated ears	23476	BRD4	ORPHA:199
HP:0000358	Posteriorly rotated ears	25836	NIPBL	ORPHA:199
HP:0000358	Posteriorly rotated ears	55869	HDAC8	ORPHA:199
HP:0000358	Posteriorly rotated ears	5885	RAD21	ORPHA:199
HP:0000358	Posteriorly rotated ears	3981	LIG4	ORPHA:235
HP:0000358	Posteriorly rotated ears	54888	NSUN2	ORPHA:235
HP:0000358	Posteriorly rotated ears	92482	BBIP1	ORPHA:110
HP:0000358	Posteriorly rotated ears	11020	IFT27	ORPHA:110
HP:0000358	Posteriorly rotated ears	582	BBS1	ORPHA:110
HP:0000358	Posteriorly rotated ears	49855	SCAPER	ORPHA:110
HP:0000358	Posteriorly rotated ears	51057	WDPCP	ORPHA:110
HP:0000358	Posteriorly rotated ears	27241	BBS9	ORPHA:110
HP:0000358	Posteriorly rotated ears	84984	CEP19	ORPHA:110
HP:0000358	Posteriorly rotated ears	22954	TRIM32	ORPHA:110
HP:0000358	Posteriorly rotated ears	79738	BBS10	ORPHA:110
HP:0000358	Posteriorly rotated ears	123016	TTC8	ORPHA:110
HP:0000358	Posteriorly rotated ears	26160	IFT172	ORPHA:110
HP:0000358	Posteriorly rotated ears	583	BBS2	ORPHA:110
HP:0000358	Posteriorly rotated ears	585	BBS4	ORPHA:110
HP:0000358	Posteriorly rotated ears	8195	MKKS	ORPHA:110
HP:0000358	Posteriorly rotated ears	54585	LZTFL1	ORPHA:110
HP:0000358	Posteriorly rotated ears	55212	BBS7	ORPHA:110
HP:0000358	Posteriorly rotated ears	166379	BBS12	ORPHA:110
HP:0000358	Posteriorly rotated ears	10806	SDCCAG8	ORPHA:110
HP:0000358	Posteriorly rotated ears	157657	CFAP418	ORPHA:110
HP:0000358	Posteriorly rotated ears	84100	ARL6	ORPHA:110
HP:0000358	Posteriorly rotated ears	129880	BBS5	ORPHA:110
HP:0000358	Posteriorly rotated ears	80173	IFT74	ORPHA:110
HP:0000358	Posteriorly rotated ears	5396	PRRX1	ORPHA:990
HP:0000358	Posteriorly rotated ears	5015	OTX2	ORPHA:990
HP:0000358	Posteriorly rotated ears	2629	GBA1	ORPHA:85212
HP:0000358	Posteriorly rotated ears	10908	PNPLA6	ORPHA:2377
HP:0000358	Posteriorly rotated ears	6804	STX1A	ORPHA:904
HP:0000358	Posteriorly rotated ears	7461	CLIP2	ORPHA:904
HP:0000358	Posteriorly rotated ears	84277	DNAJC30	ORPHA:904
HP:0000358	Posteriorly rotated ears	8468	FKBP6	ORPHA:904
HP:0000358	Posteriorly rotated ears	5982	RFC2	ORPHA:904
HP:0000358	Posteriorly rotated ears	2969	GTF2I	ORPHA:904
HP:0000358	Posteriorly rotated ears	3984	LIMK1	ORPHA:904
HP:0000358	Posteriorly rotated ears	9569	GTF2IRD1	ORPHA:904
HP:0000358	Posteriorly rotated ears	155382	VPS37D	ORPHA:904
HP:0000358	Posteriorly rotated ears	155368	METTL27	ORPHA:904
HP:0000358	Posteriorly rotated ears	114049	BUD23	ORPHA:904
HP:0000358	Posteriorly rotated ears	7458	EIF4H	ORPHA:904
HP:0000358	Posteriorly rotated ears	84163	GTF2IRD2	ORPHA:904
HP:0000358	Posteriorly rotated ears	9275	BCL7B	ORPHA:904
HP:0000358	Posteriorly rotated ears	26608	TBL2	ORPHA:904
HP:0000358	Posteriorly rotated ears	653361	NCF1	ORPHA:904
HP:0000358	Posteriorly rotated ears	135886	TMEM270	ORPHA:904
HP:0000358	Posteriorly rotated ears	51085	MLXIPL	ORPHA:904
HP:0000358	Posteriorly rotated ears	9031	BAZ1B	ORPHA:904
HP:0000358	Posteriorly rotated ears	2006	ELN	ORPHA:904
HP:0000358	Posteriorly rotated ears	259232	NALCN	ORPHA:371364
HP:0000358	Posteriorly rotated ears	5590	PRKCZ	ORPHA:1606
HP:0000358	Posteriorly rotated ears	2563	GABRD	ORPHA:1606
HP:0000358	Posteriorly rotated ears	23013	SPEN	ORPHA:1606
HP:0000358	Posteriorly rotated ears	8510	MMP23B	ORPHA:1606
HP:0000358	Posteriorly rotated ears	7798	LUZP1	ORPHA:1606
HP:0000358	Posteriorly rotated ears	10630	PDPN	ORPHA:1606
HP:0000358	Posteriorly rotated ears	10277	UBE4B	ORPHA:1606
HP:0000358	Posteriorly rotated ears	8514	KCNAB2	ORPHA:1606
HP:0000358	Posteriorly rotated ears	63976	PRDM16	ORPHA:1606
HP:0000358	Posteriorly rotated ears	54897	CASZ1	ORPHA:1606
HP:0000358	Posteriorly rotated ears	1836	SLC26A2	ORPHA:628
HP:0000358	Posteriorly rotated ears	25914	RTTN	ORPHA:468631
HP:0000358	Posteriorly rotated ears	5894	RAF1	ORPHA:500
HP:0000358	Posteriorly rotated ears	5894	RAF1	ORPHA:648
HP:0000358	Posteriorly rotated ears	2131	EXT1	ORPHA:502
HP:0000358	Posteriorly rotated ears	7227	TRPS1	ORPHA:502
HP:0000358	Posteriorly rotated ears	10743	RAI1	ORPHA:1713
HP:0000358	Posteriorly rotated ears	5495	PPM1B	ORPHA:163693
HP:0000358	Posteriorly rotated ears	6519	SLC3A1	ORPHA:163693
HP:0000358	Posteriorly rotated ears	9581	PREPL	ORPHA:163693
HP:0000358	Posteriorly rotated ears	79823	CAMKMT	ORPHA:163693
HP:0000358	Posteriorly rotated ears	5824	PEX19	ORPHA:44
HP:0000358	Posteriorly rotated ears	5828	PEX2	ORPHA:44
HP:0000358	Posteriorly rotated ears	9409	PEX16	ORPHA:44
HP:0000358	Posteriorly rotated ears	5190	PEX6	ORPHA:44
HP:0000358	Posteriorly rotated ears	8799	PEX11B	ORPHA:44
HP:0000358	Posteriorly rotated ears	5830	PEX5	ORPHA:44
HP:0000358	Posteriorly rotated ears	5193	PEX12	ORPHA:44
HP:0000358	Posteriorly rotated ears	5194	PEX13	ORPHA:44
HP:0000358	Posteriorly rotated ears	5195	PEX14	ORPHA:44
HP:0000358	Posteriorly rotated ears	5192	PEX10	ORPHA:44
HP:0000358	Posteriorly rotated ears	2239	GPC4	ORPHA:373
HP:0000358	Posteriorly rotated ears	2719	GPC3	ORPHA:373
HP:0000358	Posteriorly rotated ears	59341	TRPV4	ORPHA:2635
HP:0000358	Posteriorly rotated ears	23483	TGDS	ORPHA:1388
HP:0000358	Posteriorly rotated ears	22930	RAB3GAP1	ORPHA:1387
HP:0000358	Posteriorly rotated ears	22930	RAB3GAP1	ORPHA:2510
HP:0000358	Posteriorly rotated ears	22800	RRAS2	ORPHA:648
HP:0000358	Posteriorly rotated ears	6016	RIT1	ORPHA:648
HP:0000358	Posteriorly rotated ears	6237	RRAS	ORPHA:648
HP:0000358	Posteriorly rotated ears	4893	NRAS	ORPHA:648
HP:0000358	Posteriorly rotated ears	6655	SOS2	ORPHA:648
HP:0000358	Posteriorly rotated ears	5922	RASA2	ORPHA:648
HP:0000358	Posteriorly rotated ears	9939	RBM8A	ORPHA:3320
HP:0000358	Posteriorly rotated ears	22931	RAB18	ORPHA:2510
HP:0000358	Posteriorly rotated ears	128637	TBC1D20	ORPHA:2510
HP:0000358	Posteriorly rotated ears	64131	XYLT1	ORPHA:1425
HP:0000358	Posteriorly rotated ears	124583	CANT1	ORPHA:1425
HP:0000358	Posteriorly rotated ears	55790	CSGALNACT1	ORPHA:1425
HP:0000358	Posteriorly rotated ears	10210	TOPORS	ORPHA:2754
HP:0000358	Posteriorly rotated ears	5147	PDE6D	ORPHA:2754
HP:0000358	Posteriorly rotated ears	8481	OFD1	ORPHA:2754
HP:0000358	Posteriorly rotated ears	317662	FAM149B1	ORPHA:2754
HP:0000358	Posteriorly rotated ears	3239	HOXD13	ORPHA:887
HP:0000358	Posteriorly rotated ears	8726	EED	ORPHA:3447
HP:0000358	Posteriorly rotated ears	23512	SUZ12	ORPHA:3447
HP:0000358	Posteriorly rotated ears	2146	EZH2	ORPHA:3447
HP:0000358	Posteriorly rotated ears	1723	DHODH	ORPHA:246
HP:0000358	Posteriorly rotated ears	257	ALX3	ORPHA:391474
HP:0000358	Posteriorly rotated ears	6736	SRY	ORPHA:1772
HP:0000358	Posteriorly rotated ears	219844	HYLS1	ORPHA:2189
HP:0000358	Posteriorly rotated ears	2245	FGD1	ORPHA:915
HP:0000407	Sensorineural hearing impairment	153562	MARVELD2	OMIM:610153
HP:0000407	Sensorineural hearing impairment	107	ADCY1	OMIM:610154
HP:0000407	Sensorineural hearing impairment	3082	HGF	OMIM:608265
HP:0000407	Sensorineural hearing impairment	2549	GAB1	OMIM:605428
HP:0000407	Sensorineural hearing impairment	9015	TAF1A	ORPHA:154
HP:0000407	Sensorineural hearing impairment	5663	PSEN1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	6389	SDHA	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7112	TMPO	ORPHA:154
HP:0000407	Sensorineural hearing impairment	9464	HAND2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	4625	MYH7	ORPHA:154
HP:0000407	Sensorineural hearing impairment	88	ACTN2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	10486	CAP2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	10060	ABCC9	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7168	TPM1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7414	VCL	ORPHA:154
HP:0000407	Sensorineural hearing impairment	1832	DSP	ORPHA:154
HP:0000407	Sensorineural hearing impairment	70	ACTC1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	27063	ANKRD1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	8048	CSRP3	ORPHA:154
HP:0000407	Sensorineural hearing impairment	1410	CRYAB	ORPHA:154
HP:0000407	Sensorineural hearing impairment	4000	LMNA	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7139	TNNT2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	1829	DSG2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	3910	LAMA4	ORPHA:154
HP:0000407	Sensorineural hearing impairment	63976	PRDM16	ORPHA:154
HP:0000407	Sensorineural hearing impairment	63976	PRDM16	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	7273	TTN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	10587	TXNRD2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	9531	BAG3	ORPHA:154
HP:0000407	Sensorineural hearing impairment	5350	PLN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	91624	NEXN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	79717	PPCS	ORPHA:154
HP:0000407	Sensorineural hearing impairment	5664	PSEN2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	4624	MYH6	ORPHA:154
HP:0000407	Sensorineural hearing impairment	9529	BAG5	ORPHA:154
HP:0000407	Sensorineural hearing impairment	4607	MYBPC3	ORPHA:154
HP:0000407	Sensorineural hearing impairment	282996	RBM20	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7137	TNNI3	ORPHA:154
HP:0000407	Sensorineural hearing impairment	11155	LDB3	ORPHA:154
HP:0000407	Sensorineural hearing impairment	2274	FHL2	ORPHA:154
HP:0000407	Sensorineural hearing impairment	6901	TAFAZZIN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	22845	DOLK	ORPHA:154
HP:0000407	Sensorineural hearing impairment	5894	RAF1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	5894	RAF1	ORPHA:500
HP:0000407	Sensorineural hearing impairment	5894	RAF1	ORPHA:648
HP:0000407	Sensorineural hearing impairment	1756	DMD	ORPHA:154
HP:0000407	Sensorineural hearing impairment	57798	GATAD1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	7134	TNNC1	ORPHA:154
HP:0000407	Sensorineural hearing impairment	84665	MYPN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	1674	DES	ORPHA:154
HP:0000407	Sensorineural hearing impairment	6444	SGCD	ORPHA:154
HP:0000407	Sensorineural hearing impairment	6331	SCN5A	ORPHA:154
HP:0000407	Sensorineural hearing impairment	2218	FKTN	ORPHA:154
HP:0000407	Sensorineural hearing impairment	8557	TCAP	ORPHA:154
HP:0000407	Sensorineural hearing impairment	51399	TRAPPC4	OMIM:618741
HP:0000407	Sensorineural hearing impairment	23019	CNOT1	OMIM:618500
HP:0000407	Sensorineural hearing impairment	1024	CDK8	OMIM:618748
HP:0000407	Sensorineural hearing impairment	55823	VPS11	ORPHA:466934
HP:0000407	Sensorineural hearing impairment	5238	PGM3	ORPHA:443811
HP:0000407	Sensorineural hearing impairment	5238	PGM3	OMIM:615816
HP:0000407	Sensorineural hearing impairment	5165	PDK3	OMIM:300905
HP:0000407	Sensorineural hearing impairment	5165	PDK3	ORPHA:352675
HP:0000407	Sensorineural hearing impairment	1786	DNMT1	ORPHA:314404
HP:0000407	Sensorineural hearing impairment	1786	DNMT1	OMIM:614116
HP:0000407	Sensorineural hearing impairment	1786	DNMT1	OMIM:604121
HP:0000407	Sensorineural hearing impairment	2261	FGFR3	ORPHA:53271
HP:0000407	Sensorineural hearing impairment	2261	FGFR3	ORPHA:794
HP:0000407	Sensorineural hearing impairment	2261	FGFR3	ORPHA:2363
HP:0000407	Sensorineural hearing impairment	2261	FGFR3	OMIM:602849
HP:0000407	Sensorineural hearing impairment	2261	FGFR3	OMIM:610474
HP:0000407	Sensorineural hearing impairment	91147	TMEM67	OMIM:602152
HP:0000407	Sensorineural hearing impairment	51099	ABHD5	OMIM:275630
HP:0000407	Sensorineural hearing impairment	51099	ABHD5	ORPHA:98907
HP:0000407	Sensorineural hearing impairment	4125	MAN2B1	ORPHA:309282
HP:0000407	Sensorineural hearing impairment	4125	MAN2B1	OMIM:248500
HP:0000407	Sensorineural hearing impairment	215	ABCD1	ORPHA:388
HP:0000407	Sensorineural hearing impairment	5979	RET	ORPHA:388
HP:0000407	Sensorineural hearing impairment	5979	RET	ORPHA:99803
HP:0000407	Sensorineural hearing impairment	2668	GDNF	ORPHA:388
HP:0000407	Sensorineural hearing impairment	6608	SMO	ORPHA:388
HP:0000407	Sensorineural hearing impairment	1889	ECE1	ORPHA:388
HP:0000407	Sensorineural hearing impairment	6720	SREBF1	ORPHA:388
HP:0000407	Sensorineural hearing impairment	1908	EDN3	ORPHA:388
HP:0000407	Sensorineural hearing impairment	1908	EDN3	OMIM:613265
HP:0000407	Sensorineural hearing impairment	223117	SEMA3D	ORPHA:388
HP:0000407	Sensorineural hearing impairment	538	ATP7A	ORPHA:388
HP:0000407	Sensorineural hearing impairment	1910	EDNRB	ORPHA:388
HP:0000407	Sensorineural hearing impairment	1910	EDNRB	OMIM:277580
HP:0000407	Sensorineural hearing impairment	1910	EDNRB	ORPHA:895
HP:0000407	Sensorineural hearing impairment	10512	SEMA3C	ORPHA:388
HP:0000407	Sensorineural hearing impairment	2064	ERBB2	ORPHA:388
HP:0000407	Sensorineural hearing impairment	2064	ERBB2	OMIM:619465
HP:0000407	Sensorineural hearing impairment	2065	ERBB3	ORPHA:388
HP:0000407	Sensorineural hearing impairment	4902	NRTN	ORPHA:388
HP:0000407	Sensorineural hearing impairment	197131	UBR1	OMIM:243800
HP:0000407	Sensorineural hearing impairment	197131	UBR1	ORPHA:2315
HP:0000407	Sensorineural hearing impairment	23498	HAAO	OMIM:617660
HP:0000407	Sensorineural hearing impairment	83959	SLC4A11	ORPHA:293603
HP:0000407	Sensorineural hearing impairment	83959	SLC4A11	ORPHA:1490
HP:0000407	Sensorineural hearing impairment	83959	SLC4A11	OMIM:217400
HP:0000407	Sensorineural hearing impairment	9578	CDC42BPB	OMIM:619841
HP:0000407	Sensorineural hearing impairment	396	ARHGDIA	OMIM:615244
HP:0000407	Sensorineural hearing impairment	374462	PTPRQ	OMIM:617663
HP:0000407	Sensorineural hearing impairment	1855	DVL1	OMIM:616331
HP:0000407	Sensorineural hearing impairment	56616	DIABLO	OMIM:614152
HP:0000407	Sensorineural hearing impairment	1841	DTYMK	OMIM:619847
HP:0000407	Sensorineural hearing impairment	166378	AFG2A	OMIM:616577
HP:0000407	Sensorineural hearing impairment	84197	POMK	OMIM:615249
HP:0000407	Sensorineural hearing impairment	81846	SBF2	OMIM:604563
HP:0000407	Sensorineural hearing impairment	81846	SBF2	ORPHA:99956
HP:0000407	Sensorineural hearing impairment	1161	ERCC8	OMIM:216400
HP:0000407	Sensorineural hearing impairment	55650	PIGV	OMIM:239300
HP:0000407	Sensorineural hearing impairment	90	ACVR1	OMIM:135100
HP:0000407	Sensorineural hearing impairment	9885	OSBPL2	OMIM:616340
HP:0000407	Sensorineural hearing impairment	3190	HNRNPK	OMIM:616580
HP:0000407	Sensorineural hearing impairment	3190	HNRNPK	ORPHA:453504
HP:0000407	Sensorineural hearing impairment	3190	HNRNPK	ORPHA:352665
HP:0000407	Sensorineural hearing impairment	317662	FAM149B1	OMIM:618763
HP:0000407	Sensorineural hearing impairment	64834	ELOVL1	OMIM:618527
HP:0000407	Sensorineural hearing impairment	54880	BCOR	ORPHA:2712
HP:0000407	Sensorineural hearing impairment	54880	BCOR	OMIM:300166
HP:0000407	Sensorineural hearing impairment	3423	IDS	ORPHA:217085
HP:0000407	Sensorineural hearing impairment	3423	IDS	ORPHA:217093
HP:0000407	Sensorineural hearing impairment	9968	MED12	ORPHA:93932
HP:0000407	Sensorineural hearing impairment	9968	MED12	OMIM:305450
HP:0000407	Sensorineural hearing impairment	79029	AFG2B	OMIM:619615
HP:0000407	Sensorineural hearing impairment	85465	SELENOI	OMIM:618768
HP:0000407	Sensorineural hearing impairment	5191	PEX7	OMIM:215100
HP:0000407	Sensorineural hearing impairment	5191	PEX7	ORPHA:773
HP:0000407	Sensorineural hearing impairment	5191	PEX7	OMIM:614879
HP:0000407	Sensorineural hearing impairment	5191	PEX7	OMIM:266500
HP:0000407	Sensorineural hearing impairment	4571	MT-TP	OMIM:545000
HP:0000407	Sensorineural hearing impairment	4571	MT-TP	ORPHA:551
HP:0000407	Sensorineural hearing impairment	4565	MT-TI	OMIM:545000
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	OMIM:618533
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	ORPHA:90654
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	ORPHA:440354
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	ORPHA:560
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	OMIM:154780
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	OMIM:604841
HP:0000407	Sensorineural hearing impairment	1301	COL11A1	ORPHA:250984
HP:0000407	Sensorineural hearing impairment	57231	SNX14	OMIM:616354
HP:0000407	Sensorineural hearing impairment	57231	SNX14	ORPHA:397709
HP:0000407	Sensorineural hearing impairment	23327	NEDD4L	OMIM:617201
HP:0000407	Sensorineural hearing impairment	1280	COL2A1	ORPHA:90653
HP:0000407	Sensorineural hearing impairment	1280	COL2A1	ORPHA:166100
HP:0000407	Sensorineural hearing impairment	1280	COL2A1	OMIM:271700
HP:0000407	Sensorineural hearing impairment	1280	COL2A1	OMIM:108300
HP:0000407	Sensorineural hearing impairment	1428	CRYM	OMIM:616357
HP:0000407	Sensorineural hearing impairment	28514	DLL1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	28514	DLL1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	28514	DLL1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	28514	DLL1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2253	FGF8	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	2253	FGF8	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	2253	FGF8	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	2253	FGF8	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2253	FGF8	ORPHA:478
HP:0000407	Sensorineural hearing impairment	2253	FGF8	OMIM:612702
HP:0000407	Sensorineural hearing impairment	6496	SIX3	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	6496	SIX3	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	6496	SIX3	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	6496	SIX3	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	7050	TGIF1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	7050	TGIF1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	7050	TGIF1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	7050	TGIF1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	4838	NODAL	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	4838	NODAL	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	4838	NODAL	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	4838	NODAL	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	6469	SHH	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	6469	SHH	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	6469	SHH	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	6469	SHH	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	7546	ZIC2	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	7546	ZIC2	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	7546	ZIC2	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	7546	ZIC2	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	6491	STIL	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	6491	STIL	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	6491	STIL	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	6491	STIL	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2619	GAS1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	2619	GAS1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	2619	GAS1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	2619	GAS1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	84976	DISP1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	84976	DISP1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	84976	DISP1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	84976	DISP1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2736	GLI2	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	2736	GLI2	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	2736	GLI2	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	2736	GLI2	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	8928	FOXH1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	8928	FOXH1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	8928	FOXH1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	8928	FOXH1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	5727	PTCH1	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	5727	PTCH1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	5727	PTCH1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	5727	PTCH1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	50937	CDON	ORPHA:93926
HP:0000407	Sensorineural hearing impairment	50937	CDON	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	50937	CDON	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	50937	CDON	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2260	FGFR1	ORPHA:93924
HP:0000407	Sensorineural hearing impairment	2260	FGFR1	OMIM:147950
HP:0000407	Sensorineural hearing impairment	2260	FGFR1	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	2260	FGFR1	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	2260	FGFR1	ORPHA:478
HP:0000407	Sensorineural hearing impairment	8295	TRRAP	OMIM:618778
HP:0000407	Sensorineural hearing impairment	23007	PLCH1	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	10735	STAG2	ORPHA:93925
HP:0000407	Sensorineural hearing impairment	10735	STAG2	OMIM:301022
HP:0000407	Sensorineural hearing impairment	10735	STAG2	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	4747	NEFL	ORPHA:101085
HP:0000407	Sensorineural hearing impairment	4747	NEFL	OMIM:617882
HP:0000407	Sensorineural hearing impairment	4247	MGAT2	OMIM:212066
HP:0000407	Sensorineural hearing impairment	5357	PLS1	OMIM:618787
HP:0000407	Sensorineural hearing impairment	5590	PRKCZ	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	2563	GABRD	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	23013	SPEN	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	8510	MMP23B	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	7798	LUZP1	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	6497	SKI	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	10630	PDPN	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	3339	HSPG2	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	10277	UBE4B	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	8514	KCNAB2	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	473	RERE	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	473	RERE	OMIM:616975
HP:0000407	Sensorineural hearing impairment	54897	CASZ1	ORPHA:1606
HP:0000407	Sensorineural hearing impairment	285362	SUMF1	ORPHA:585
HP:0000407	Sensorineural hearing impairment	117531	TMC1	OMIM:606705
HP:0000407	Sensorineural hearing impairment	117531	TMC1	OMIM:600974
HP:0000407	Sensorineural hearing impairment	3766	KCNJ10	ORPHA:199343
HP:0000407	Sensorineural hearing impairment	3766	KCNJ10	OMIM:600791
HP:0000407	Sensorineural hearing impairment	3766	KCNJ10	OMIM:612780
HP:0000407	Sensorineural hearing impairment	3766	KCNJ10	ORPHA:705
HP:0000407	Sensorineural hearing impairment	124590	USH1G	OMIM:606943
HP:0000407	Sensorineural hearing impairment	124590	USH1G	ORPHA:231169
HP:0000407	Sensorineural hearing impairment	2138	EYA1	OMIM:602588
HP:0000407	Sensorineural hearing impairment	2138	EYA1	OMIM:113650
HP:0000407	Sensorineural hearing impairment	2138	EYA1	ORPHA:52429
HP:0000407	Sensorineural hearing impairment	3773	KCNJ16	OMIM:619406
HP:0000407	Sensorineural hearing impairment	5981	RFC1	ORPHA:504476
HP:0000407	Sensorineural hearing impairment	1758	DMP1	ORPHA:289176
HP:0000407	Sensorineural hearing impairment	1758	DMP1	OMIM:241520
HP:0000407	Sensorineural hearing impairment	5167	ENPP1	ORPHA:289176
HP:0000407	Sensorineural hearing impairment	5167	ENPP1	ORPHA:51608
HP:0000407	Sensorineural hearing impairment	125988	MICOS13	OMIM:618329
HP:0000407	Sensorineural hearing impairment	84131	CEP78	OMIM:617236
HP:0000407	Sensorineural hearing impairment	84131	CEP78	ORPHA:231183
HP:0000407	Sensorineural hearing impairment	25836	NIPBL	OMIM:122470
HP:0000407	Sensorineural hearing impairment	25836	NIPBL	ORPHA:199
HP:0000407	Sensorineural hearing impairment	2316	FLNA	ORPHA:1826
HP:0000407	Sensorineural hearing impairment	2316	FLNA	OMIM:305620
HP:0000407	Sensorineural hearing impairment	6885	MAP3K7	ORPHA:1826
HP:0000407	Sensorineural hearing impairment	6885	MAP3K7	OMIM:617137
HP:0000407	Sensorineural hearing impairment	2778	GNAS	ORPHA:79443
HP:0000407	Sensorineural hearing impairment	617	BCS1L	ORPHA:123
HP:0000407	Sensorineural hearing impairment	617	BCS1L	OMIM:262000
HP:0000407	Sensorineural hearing impairment	25970	SH2B1	ORPHA:261197
HP:0000407	Sensorineural hearing impairment	55151	TMEM38B	OMIM:615066
HP:0000407	Sensorineural hearing impairment	3000	GUCY2D	OMIM:204000
HP:0000407	Sensorineural hearing impairment	27429	HTRA2	OMIM:617248
HP:0000407	Sensorineural hearing impairment	4001	LMNB1	ORPHA:99027
HP:0000407	Sensorineural hearing impairment	389827	MYMK	OMIM:254940
HP:0000407	Sensorineural hearing impairment	64132	XYLT2	OMIM:605822
HP:0000407	Sensorineural hearing impairment	7291	TWIST1	ORPHA:794
HP:0000407	Sensorineural hearing impairment	2263	FGFR2	ORPHA:794
HP:0000407	Sensorineural hearing impairment	2263	FGFR2	ORPHA:87
HP:0000407	Sensorineural hearing impairment	2263	FGFR2	ORPHA:2363
HP:0000407	Sensorineural hearing impairment	9949	AMMECR1	OMIM:300990
HP:0000407	Sensorineural hearing impairment	4549	MT-RNR1	ORPHA:551
HP:0000407	Sensorineural hearing impairment	4564	MT-TH	ORPHA:551
HP:0000407	Sensorineural hearing impairment	4564	MT-TH	ORPHA:550
HP:0000407	Sensorineural hearing impairment	2074	ERCC6	OMIM:133540
HP:0000407	Sensorineural hearing impairment	2074	ERCC6	ORPHA:1466
HP:0000407	Sensorineural hearing impairment	2074	ERCC6	OMIM:278800
HP:0000407	Sensorineural hearing impairment	2074	ERCC6	OMIM:214150
HP:0000407	Sensorineural hearing impairment	9361	LONP1	OMIM:600373
HP:0000407	Sensorineural hearing impairment	9361	LONP1	ORPHA:1458
HP:0000407	Sensorineural hearing impairment	4538	MT-ND4	ORPHA:550
HP:0000407	Sensorineural hearing impairment	4538	MT-ND4	ORPHA:255210
HP:0000407	Sensorineural hearing impairment	92840	REEP6	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6094	ROM1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6017	RLBP1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7401	CLRN1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7401	CLRN1	OMIM:276902
HP:0000407	Sensorineural hearing impairment	7401	CLRN1	ORPHA:231183
HP:0000407	Sensorineural hearing impairment	24	ABCA4	ORPHA:791
HP:0000407	Sensorineural hearing impairment	130557	ZNF513	ORPHA:791
HP:0000407	Sensorineural hearing impairment	582	BBS1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	92211	CDHR1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	23568	ARL2BP	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6121	RPE65	ORPHA:791
HP:0000407	Sensorineural hearing impairment	54806	AHI1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6101	RP1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	3419	IDH3A	ORPHA:791
HP:0000407	Sensorineural hearing impairment	4751	NEK2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	346007	EYS	ORPHA:791
HP:0000407	Sensorineural hearing impairment	8100	IFT88	ORPHA:791
HP:0000407	Sensorineural hearing impairment	23020	SNRNP200	ORPHA:791
HP:0000407	Sensorineural hearing impairment	762	CA4	ORPHA:791
HP:0000407	Sensorineural hearing impairment	138050	HGSNAT	ORPHA:791
HP:0000407	Sensorineural hearing impairment	196	AHR	ORPHA:791
HP:0000407	Sensorineural hearing impairment	3614	IMPDH1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	123016	TTC8	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6103	RPGR	ORPHA:791
HP:0000407	Sensorineural hearing impairment	1406	CRX	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5148	PDE6G	ORPHA:791
HP:0000407	Sensorineural hearing impairment	26160	IFT172	ORPHA:791
HP:0000407	Sensorineural hearing impairment	26121	PRPF31	ORPHA:791
HP:0000407	Sensorineural hearing impairment	583	BBS2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	4117	MAK	ORPHA:791
HP:0000407	Sensorineural hearing impairment	25794	FSCN2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	375298	CERKL	ORPHA:791
HP:0000407	Sensorineural hearing impairment	3420	IDH3B	ORPHA:791
HP:0000407	Sensorineural hearing impairment	57670	KIAA1549	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7275	TUB	ORPHA:791
HP:0000407	Sensorineural hearing impairment	24148	PRPF6	ORPHA:791
HP:0000407	Sensorineural hearing impairment	23418	CRB1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	10461	MERTK	ORPHA:791
HP:0000407	Sensorineural hearing impairment	57709	SLC7A14	ORPHA:791
HP:0000407	Sensorineural hearing impairment	768206	PRCD	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7399	USH2A	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7399	USH2A	ORPHA:231178
HP:0000407	Sensorineural hearing impairment	23370	ARHGEF18	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5949	RBP3	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6010	RHO	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6100	RP9	ORPHA:791
HP:0000407	Sensorineural hearing impairment	10002	NR2E3	ORPHA:791
HP:0000407	Sensorineural hearing impairment	9227	LRAT	ORPHA:791
HP:0000407	Sensorineural hearing impairment	84140	FAM161A	ORPHA:791
HP:0000407	Sensorineural hearing impairment	55812	SPATA7	ORPHA:791
HP:0000407	Sensorineural hearing impairment	55624	POMGNT1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	79797	ZNF408	ORPHA:791
HP:0000407	Sensorineural hearing impairment	403	ARL3	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5145	PDE6A	ORPHA:791
HP:0000407	Sensorineural hearing impairment	10210	TOPORS	ORPHA:791
HP:0000407	Sensorineural hearing impairment	8842	PROM1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	9128	PRPF4	ORPHA:791
HP:0000407	Sensorineural hearing impairment	145226	RDH12	ORPHA:791
HP:0000407	Sensorineural hearing impairment	50939	IMPG2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	8481	OFD1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	49855	SCAPER	ORPHA:791
HP:0000407	Sensorineural hearing impairment	9742	IFT140	ORPHA:791
HP:0000407	Sensorineural hearing impairment	2979	GUCA1B	ORPHA:791
HP:0000407	Sensorineural hearing impairment	1259	CNGA1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	1258	CNGB1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	60509	AGBL5	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5961	PRPH2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	388939	PCARE	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7439	BEST1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	9785	DHX38	ORPHA:791
HP:0000407	Sensorineural hearing impairment	7287	TULP1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5995	RGR	ORPHA:791
HP:0000407	Sensorineural hearing impairment	9129	PRPF3	ORPHA:791
HP:0000407	Sensorineural hearing impairment	55975	KLHL7	ORPHA:791
HP:0000407	Sensorineural hearing impairment	3617	IMPG1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	94137	RP1L1	ORPHA:791
HP:0000407	Sensorineural hearing impairment	5158	PDE6B	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6102	RP2	ORPHA:791
HP:0000407	Sensorineural hearing impairment	55857	KIZ	ORPHA:791
HP:0000407	Sensorineural hearing impairment	64218	SEMA4A	ORPHA:791
HP:0000407	Sensorineural hearing impairment	4901	NRL	ORPHA:791
HP:0000407	Sensorineural hearing impairment	157657	CFAP418	ORPHA:791
HP:0000407	Sensorineural hearing impairment	10594	PRPF8	ORPHA:791
HP:0000407	Sensorineural hearing impairment	84100	ARL6	ORPHA:791
HP:0000407	Sensorineural hearing impairment	6295	SAG	ORPHA:791
HP:0000407	Sensorineural hearing impairment	79947	DHDDS	ORPHA:791
HP:0000407	Sensorineural hearing impairment	79947	DHDDS	OMIM:613861
HP:0000407	Sensorineural hearing impairment	54517	PUS7	OMIM:618342
HP:0000407	Sensorineural hearing impairment	8573	CASK	OMIM:300749
HP:0000407	Sensorineural hearing impairment	8573	CASK	ORPHA:163937
HP:0000407	Sensorineural hearing impairment	8573	CASK	OMIM:300422
HP:0000407	Sensorineural hearing impairment	5551	PRF1	ORPHA:540
HP:0000407	Sensorineural hearing impairment	8676	STX11	ORPHA:540
HP:0000407	Sensorineural hearing impairment	201294	UNC13D	ORPHA:540
HP:0000407	Sensorineural hearing impairment	6813	STXBP2	ORPHA:540
HP:0000407	Sensorineural hearing impairment	2737	GLI3	ORPHA:36
HP:0000407	Sensorineural hearing impairment	374654	KIF7	ORPHA:36
HP:0000407	Sensorineural hearing impairment	27125	AFF4	ORPHA:444077
HP:0000407	Sensorineural hearing impairment	55315	SLC29A3	OMIM:602782
HP:0000407	Sensorineural hearing impairment	10397	NDRG1	OMIM:601455
HP:0000407	Sensorineural hearing impairment	10397	NDRG1	ORPHA:99950
HP:0000407	Sensorineural hearing impairment	6299	SALL1	OMIM:107480
HP:0000407	Sensorineural hearing impairment	57104	PNPLA2	ORPHA:565612
HP:0000407	Sensorineural hearing impairment	57104	PNPLA2	ORPHA:98908
HP:0000407	Sensorineural hearing impairment	57104	PNPLA2	OMIM:610717
HP:0000407	Sensorineural hearing impairment	55182	RNF220	OMIM:619688
HP:0000407	Sensorineural hearing impairment	79158	GNPTAB	ORPHA:576
HP:0000407	Sensorineural hearing impairment	7007	TECTA	OMIM:603629
HP:0000407	Sensorineural hearing impairment	7007	TECTA	OMIM:601543
HP:0000407	Sensorineural hearing impairment	537	ATP6AP1	OMIM:300972
HP:0000407	Sensorineural hearing impairment	7922	SLC39A7	OMIM:619693
HP:0000407	Sensorineural hearing impairment	3376	IARS1	ORPHA:541423
HP:0000407	Sensorineural hearing impairment	3376	IARS1	OMIM:617093
HP:0000407	Sensorineural hearing impairment	10083	USH1C	OMIM:276900
HP:0000407	Sensorineural hearing impairment	10083	USH1C	OMIM:602092
HP:0000407	Sensorineural hearing impairment	10083	USH1C	ORPHA:231169
HP:0000407	Sensorineural hearing impairment	2717	GLA	ORPHA:324
HP:0000407	Sensorineural hearing impairment	5077	PAX3	OMIM:148820
HP:0000407	Sensorineural hearing impairment	5077	PAX3	OMIM:122880
HP:0000407	Sensorineural hearing impairment	5077	PAX3	ORPHA:1529
HP:0000407	Sensorineural hearing impairment	4627	MYH9	OMIM:155100
HP:0000407	Sensorineural hearing impairment	4627	MYH9	ORPHA:182050
HP:0000407	Sensorineural hearing impairment	11342	RNF13	OMIM:618379
HP:0000407	Sensorineural hearing impairment	11342	RNF13	ORPHA:544503
HP:0000407	Sensorineural hearing impairment	8802	SUCLG1	ORPHA:17
HP:0000407	Sensorineural hearing impairment	9294	S1PR2	OMIM:610419
HP:0000407	Sensorineural hearing impairment	5137	PDE1C	OMIM:618140
HP:0000407	Sensorineural hearing impairment	4613	MYCN	ORPHA:391641
HP:0000407	Sensorineural hearing impairment	57187	THOC2	OMIM:300957
HP:0000407	Sensorineural hearing impairment	84196	USP48	OMIM:620227
HP:0000407	Sensorineural hearing impairment	5781	PTPN11	ORPHA:500
HP:0000407	Sensorineural hearing impairment	5781	PTPN11	ORPHA:648
HP:0000407	Sensorineural hearing impairment	5781	PTPN11	OMIM:151100
HP:0000407	Sensorineural hearing impairment	5781	PTPN11	OMIM:163950
HP:0000407	Sensorineural hearing impairment	673	BRAF	ORPHA:500
HP:0000407	Sensorineural hearing impairment	673	BRAF	OMIM:613707
HP:0000407	Sensorineural hearing impairment	673	BRAF	OMIM:163950
HP:0000407	Sensorineural hearing impairment	25839	COG4	OMIM:618150
HP:0000407	Sensorineural hearing impairment	493856	CISD2	OMIM:604928
HP:0000407	Sensorineural hearing impairment	493856	CISD2	ORPHA:3463
HP:0000407	Sensorineural hearing impairment	374879	ZNF699	OMIM:619488
HP:0000407	Sensorineural hearing impairment	8318	CDC45	OMIM:617063
HP:0000407	Sensorineural hearing impairment	9373	PLAA	ORPHA:521426
HP:0000407	Sensorineural hearing impairment	100127206	MINAR2	OMIM:620238
HP:0000407	Sensorineural hearing impairment	91662	NLRP12	OMIM:611762
HP:0000407	Sensorineural hearing impairment	55717	WDR11	OMIM:620237
HP:0000407	Sensorineural hearing impairment	55717	WDR11	ORPHA:478
HP:0000407	Sensorineural hearing impairment	93587	TRMT10A	ORPHA:391408
HP:0000407	Sensorineural hearing impairment	84919	PPP1R15B	ORPHA:391408
HP:0000407	Sensorineural hearing impairment	84919	PPP1R15B	OMIM:616817
HP:0000407	Sensorineural hearing impairment	6663	SOX10	OMIM:609136
HP:0000407	Sensorineural hearing impairment	6663	SOX10	ORPHA:163746
HP:0000407	Sensorineural hearing impairment	6663	SOX10	OMIM:613266
HP:0000407	Sensorineural hearing impairment	6663	SOX10	ORPHA:478
HP:0000407	Sensorineural hearing impairment	6663	SOX10	ORPHA:895
HP:0000407	Sensorineural hearing impairment	6663	SOX10	OMIM:611584
HP:0000407	Sensorineural hearing impairment	7169	TPM2	OMIM:108120
HP:0000407	Sensorineural hearing impairment	55670	PEX26	ORPHA:772
HP:0000407	Sensorineural hearing impairment	55670	PEX26	ORPHA:44
HP:0000407	Sensorineural hearing impairment	55670	PEX26	OMIM:614873
HP:0000407	Sensorineural hearing impairment	55670	PEX26	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5824	PEX19	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5824	PEX19	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5824	PEX19	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5828	PEX2	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5828	PEX2	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5828	PEX2	OMIM:614866
HP:0000407	Sensorineural hearing impairment	5828	PEX2	OMIM:614867
HP:0000407	Sensorineural hearing impairment	5828	PEX2	ORPHA:912
HP:0000407	Sensorineural hearing impairment	8504	PEX3	ORPHA:772
HP:0000407	Sensorineural hearing impairment	8504	PEX3	ORPHA:44
HP:0000407	Sensorineural hearing impairment	8504	PEX3	ORPHA:912
HP:0000407	Sensorineural hearing impairment	9409	PEX16	ORPHA:772
HP:0000407	Sensorineural hearing impairment	9409	PEX16	ORPHA:44
HP:0000407	Sensorineural hearing impairment	9409	PEX16	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5190	PEX6	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5190	PEX6	ORPHA:3220
HP:0000407	Sensorineural hearing impairment	5190	PEX6	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5190	PEX6	OMIM:614863
HP:0000407	Sensorineural hearing impairment	5190	PEX6	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5190	PEX6	OMIM:616617
HP:0000407	Sensorineural hearing impairment	8799	PEX11B	ORPHA:772
HP:0000407	Sensorineural hearing impairment	8799	PEX11B	ORPHA:44
HP:0000407	Sensorineural hearing impairment	8799	PEX11B	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5830	PEX5	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5830	PEX5	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5830	PEX5	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5189	PEX1	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5189	PEX1	ORPHA:3220
HP:0000407	Sensorineural hearing impairment	5189	PEX1	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5189	PEX1	OMIM:214100
HP:0000407	Sensorineural hearing impairment	5189	PEX1	OMIM:234580
HP:0000407	Sensorineural hearing impairment	5189	PEX1	OMIM:601539
HP:0000407	Sensorineural hearing impairment	5189	PEX1	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5193	PEX12	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5193	PEX12	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5193	PEX12	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5193	PEX12	OMIM:266510
HP:0000407	Sensorineural hearing impairment	5194	PEX13	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5194	PEX13	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5194	PEX13	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5195	PEX14	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5195	PEX14	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5195	PEX14	ORPHA:912
HP:0000407	Sensorineural hearing impairment	5192	PEX10	ORPHA:772
HP:0000407	Sensorineural hearing impairment	5192	PEX10	ORPHA:44
HP:0000407	Sensorineural hearing impairment	5192	PEX10	OMIM:614871
HP:0000407	Sensorineural hearing impairment	5192	PEX10	ORPHA:912
HP:0000407	Sensorineural hearing impairment	2299	FOXI1	OMIM:600791
HP:0000407	Sensorineural hearing impairment	2299	FOXI1	ORPHA:705
HP:0000407	Sensorineural hearing impairment	5172	SLC26A4	OMIM:600791
HP:0000407	Sensorineural hearing impairment	5172	SLC26A4	ORPHA:705
HP:0000407	Sensorineural hearing impairment	5264	PHYH	ORPHA:773
HP:0000407	Sensorineural hearing impairment	5264	PHYH	OMIM:266500
HP:0000407	Sensorineural hearing impairment	5295	PIK3R1	ORPHA:3163
HP:0000407	Sensorineural hearing impairment	5295	PIK3R1	OMIM:269880
HP:0000407	Sensorineural hearing impairment	81624	DIAPH3	OMIM:609129
HP:0000407	Sensorineural hearing impairment	1716	DGUOK	OMIM:617070
HP:0000407	Sensorineural hearing impairment	2629	GBA1	ORPHA:2072
HP:0000407	Sensorineural hearing impairment	26276	VPS33B	OMIM:620009
HP:0000407	Sensorineural hearing impairment	54936	ADPRS	OMIM:618170
HP:0000407	Sensorineural hearing impairment	4860	PNP	ORPHA:760
HP:0000407	Sensorineural hearing impairment	64802	NMNAT1	OMIM:619260
HP:0000407	Sensorineural hearing impairment	4038	LRP4	ORPHA:3152
HP:0000407	Sensorineural hearing impairment	50964	SOST	ORPHA:3152
HP:0000407	Sensorineural hearing impairment	50964	SOST	ORPHA:3416
HP:0000407	Sensorineural hearing impairment	375056	MIA3	OMIM:619269
HP:0000407	Sensorineural hearing impairment	8022	LHX3	ORPHA:231720
HP:0000407	Sensorineural hearing impairment	8022	LHX3	ORPHA:226307
HP:0000407	Sensorineural hearing impairment	8022	LHX3	OMIM:221750
HP:0000407	Sensorineural hearing impairment	51473	DCDC2	OMIM:610212
HP:0000407	Sensorineural hearing impairment	128674	PROKR2	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	128674	PROKR2	ORPHA:478
HP:0000407	Sensorineural hearing impairment	6658	SOX3	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	9915	ARNT2	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	8820	HESX1	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	8820	HESX1	ORPHA:226307
HP:0000407	Sensorineural hearing impairment	8820	HESX1	ORPHA:478
HP:0000407	Sensorineural hearing impairment	5015	OTX2	ORPHA:3157
HP:0000407	Sensorineural hearing impairment	7355	SLC35A2	ORPHA:356961
HP:0000407	Sensorineural hearing impairment	283310	OTOGL	OMIM:614944
HP:0000407	Sensorineural hearing impairment	340990	OTOG	OMIM:614945
HP:0000407	Sensorineural hearing impairment	79581	SLC52A2	OMIM:614707
HP:0000407	Sensorineural hearing impairment	9241	NOG	ORPHA:3250
HP:0000407	Sensorineural hearing impairment	9241	NOG	OMIM:611377
HP:0000407	Sensorineural hearing impairment	8200	GDF5	ORPHA:3250
HP:0000407	Sensorineural hearing impairment	146183	OTOA	OMIM:607039
HP:0000407	Sensorineural hearing impairment	613	BCR	ORPHA:261330
HP:0000407	Sensorineural hearing impairment	1399	CRKL	ORPHA:261330
HP:0000407	Sensorineural hearing impairment	5594	MAPK1	ORPHA:261330
HP:0000407	Sensorineural hearing impairment	63916	ELMO2	ORPHA:3019
HP:0000407	Sensorineural hearing impairment	1717	DHCR7	ORPHA:818
HP:0000407	Sensorineural hearing impairment	375611	SLC26A5	OMIM:613865
HP:0000407	Sensorineural hearing impairment	4758	NEU1	ORPHA:812
HP:0000407	Sensorineural hearing impairment	4758	NEU1	OMIM:256550
HP:0000407	Sensorineural hearing impairment	429	ASCL1	ORPHA:99803
HP:0000407	Sensorineural hearing impairment	8929	PHOX2B	ORPHA:99803
HP:0000407	Sensorineural hearing impairment	29072	SETD2	OMIM:620155
HP:0000407	Sensorineural hearing impairment	87178	PNPT1	ORPHA:319514
HP:0000407	Sensorineural hearing impairment	87178	PNPT1	OMIM:614932
HP:0000407	Sensorineural hearing impairment	525	ATP6V1B1	OMIM:267300
HP:0000407	Sensorineural hearing impairment	6197	RPS6KA3	OMIM:303600
HP:0000407	Sensorineural hearing impairment	6197	RPS6KA3	ORPHA:192
HP:0000407	Sensorineural hearing impairment	645104	CLRN2	OMIM:619174
HP:0000407	Sensorineural hearing impairment	2483	FRG1	OMIM:158900
HP:0000407	Sensorineural hearing impairment	2483	FRG1	ORPHA:269
HP:0000407	Sensorineural hearing impairment	92579	G6PC3	OMIM:612541
HP:0000407	Sensorineural hearing impairment	29967	LRP12	OMIM:164310
HP:0000407	Sensorineural hearing impairment	546	ATRX	ORPHA:847
HP:0000407	Sensorineural hearing impairment	546	ATRX	OMIM:309580
HP:0000407	Sensorineural hearing impairment	546	ATRX	OMIM:301040
HP:0000407	Sensorineural hearing impairment	54675	CRLS1	OMIM:620167
HP:0000407	Sensorineural hearing impairment	1690	COCH	OMIM:618094
HP:0000407	Sensorineural hearing impairment	57531	HACE1	ORPHA:464282
HP:0000407	Sensorineural hearing impairment	57531	HACE1	OMIM:616756
HP:0000407	Sensorineural hearing impairment	9750	RIPOR2	OMIM:607017
HP:0000407	Sensorineural hearing impairment	9839	ZEB2	ORPHA:261552
HP:0000407	Sensorineural hearing impairment	9839	ZEB2	ORPHA:261537
HP:0000407	Sensorineural hearing impairment	7156	TOP3A	OMIM:618098
HP:0000407	Sensorineural hearing impairment	6999	TDO2	OMIM:600627
HP:0000407	Sensorineural hearing impairment	10682	EBP	ORPHA:35173
HP:0000407	Sensorineural hearing impairment	1954	MEGF8	OMIM:614976
HP:0000407	Sensorineural hearing impairment	1729	DIAPH1	OMIM:124900
HP:0000407	Sensorineural hearing impairment	84300	UQCC2	OMIM:615824
HP:0000407	Sensorineural hearing impairment	55636	CHD7	OMIM:214800
HP:0000407	Sensorineural hearing impairment	55636	CHD7	OMIM:612370
HP:0000407	Sensorineural hearing impairment	55636	CHD7	ORPHA:478
HP:0000407	Sensorineural hearing impairment	4036	LRP2	ORPHA:2143
HP:0000407	Sensorineural hearing impairment	4036	LRP2	OMIM:222448
HP:0000407	Sensorineural hearing impairment	25942	SIN3A	OMIM:613406
HP:0000407	Sensorineural hearing impairment	3756	KCNH1	ORPHA:3473
HP:0000407	Sensorineural hearing impairment	3782	KCNN3	ORPHA:3473
HP:0000407	Sensorineural hearing impairment	53834	FGFRL1	OMIM:194190
HP:0000407	Sensorineural hearing impairment	1487	CTBP1	OMIM:194190
HP:0000407	Sensorineural hearing impairment	7468	NSD2	OMIM:194190
HP:0000407	Sensorineural hearing impairment	10815	CPLX1	OMIM:194190
HP:0000407	Sensorineural hearing impairment	84947	SERAC1	OMIM:614739
HP:0000407	Sensorineural hearing impairment	54496	PRMT7	ORPHA:464288
HP:0000407	Sensorineural hearing impairment	113278	SLC52A3	OMIM:211530
HP:0000407	Sensorineural hearing impairment	6234	RPS28	OMIM:606164
HP:0000407	Sensorineural hearing impairment	9653	HS2ST1	OMIM:619194
HP:0000407	Sensorineural hearing impairment	5626	PROP1	ORPHA:226307
HP:0000407	Sensorineural hearing impairment	89884	LHX4	ORPHA:226307
HP:0000407	Sensorineural hearing impairment	5449	POU1F1	ORPHA:226307
HP:0000407	Sensorineural hearing impairment	10908	PNPLA6	ORPHA:2377
HP:0000407	Sensorineural hearing impairment	3211	HOXB1	OMIM:614744
HP:0000407	Sensorineural hearing impairment	2122	MECOM	ORPHA:71289
HP:0000407	Sensorineural hearing impairment	2122	MECOM	OMIM:616738
HP:0000407	Sensorineural hearing impairment	3207	HOXA11	ORPHA:71289
HP:0000407	Sensorineural hearing impairment	3207	HOXA11	OMIM:605432
HP:0000407	Sensorineural hearing impairment	2624	GATA2	ORPHA:3226
HP:0000407	Sensorineural hearing impairment	90665	TBL1Y	OMIM:400047
HP:0000407	Sensorineural hearing impairment	4094	MAF	ORPHA:1272
HP:0000407	Sensorineural hearing impairment	4094	MAF	OMIM:601088
HP:0000407	Sensorineural hearing impairment	440138	ALG11	OMIM:613661
HP:0000407	Sensorineural hearing impairment	2255	FGF10	ORPHA:2363
HP:0000407	Sensorineural hearing impairment	2103	ESRRB	OMIM:608565
HP:0000407	Sensorineural hearing impairment	695	BTK	ORPHA:47
HP:0000407	Sensorineural hearing impairment	427	ASAH1	ORPHA:2590
HP:0000407	Sensorineural hearing impairment	286676	ILDR1	OMIM:609646
HP:0000407	Sensorineural hearing impairment	2707	GJB3	OMIM:220290
HP:0000407	Sensorineural hearing impairment	51322	WAC	OMIM:616708
HP:0000407	Sensorineural hearing impairment	9455	HOMER2	OMIM:616707
HP:0000407	Sensorineural hearing impairment	4233	MET	OMIM:616705
HP:0000407	Sensorineural hearing impairment	4556	MT-TE	ORPHA:2596
HP:0000407	Sensorineural hearing impairment	4556	MT-TE	ORPHA:225
HP:0000407	Sensorineural hearing impairment	147372	CCBE1	OMIM:235510
HP:0000407	Sensorineural hearing impairment	84188	FAR1	ORPHA:447753
HP:0000407	Sensorineural hearing impairment	5832	ALDH18A1	ORPHA:447753
HP:0000407	Sensorineural hearing impairment	355	FAS	ORPHA:3437
HP:0000407	Sensorineural hearing impairment	26191	PTPN22	ORPHA:3437
HP:0000407	Sensorineural hearing impairment	26191	PTPN22	ORPHA:900
HP:0000407	Sensorineural hearing impairment	57165	GJC2	OMIM:613206
HP:0000407	Sensorineural hearing impairment	57165	GJC2	ORPHA:320401
HP:0000407	Sensorineural hearing impairment	57724	EPG5	ORPHA:1493
HP:0000407	Sensorineural hearing impairment	57724	EPG5	OMIM:242840
HP:0000407	Sensorineural hearing impairment	3371	TNC	OMIM:615629
HP:0000407	Sensorineural hearing impairment	152137	CCDC50	OMIM:607453
HP:0000407	Sensorineural hearing impairment	1287	COL4A5	ORPHA:1018
HP:0000407	Sensorineural hearing impairment	1287	COL4A5	OMIM:301050
HP:0000407	Sensorineural hearing impairment	91949	COG7	OMIM:608779
HP:0000407	Sensorineural hearing impairment	124997	WDR81	OMIM:610185
HP:0000407	Sensorineural hearing impairment	132	ADK	OMIM:614300
HP:0000407	Sensorineural hearing impairment	79848	CSPP1	OMIM:615636
HP:0000407	Sensorineural hearing impairment	8943	AP3D1	ORPHA:1000
HP:0000407	Sensorineural hearing impairment	8763	CD164	OMIM:616969
HP:0000407	Sensorineural hearing impairment	1776	DNASE1L3	ORPHA:36412
HP:0000407	Sensorineural hearing impairment	4010	LMX1B	OMIM:161200
HP:0000407	Sensorineural hearing impairment	7317	UBA1	OMIM:301054
HP:0000407	Sensorineural hearing impairment	54931	TRMT10C	OMIM:616974
HP:0000407	Sensorineural hearing impairment	4041	LRP5	ORPHA:3416
HP:0000407	Sensorineural hearing impairment	4041	LRP5	ORPHA:2790
HP:0000407	Sensorineural hearing impairment	4041	LRP5	OMIM:144750
HP:0000407	Sensorineural hearing impairment	2782	GNB1	OMIM:616973
HP:0000407	Sensorineural hearing impairment	4893	NRAS	OMIM:613224
HP:0000407	Sensorineural hearing impairment	4893	NRAS	ORPHA:648
HP:0000407	Sensorineural hearing impairment	4363	ABCC1	OMIM:618915
HP:0000407	Sensorineural hearing impairment	169792	GLIS3	OMIM:610199
HP:0000407	Sensorineural hearing impairment	7403	KDM6A	ORPHA:2322
HP:0000407	Sensorineural hearing impairment	998	CDC42	OMIM:616737
HP:0000407	Sensorineural hearing impairment	10413	YAP1	ORPHA:1473
HP:0000407	Sensorineural hearing impairment	50	ACO2	OMIM:614559
HP:0000407	Sensorineural hearing impairment	2239	GPC4	OMIM:301026
HP:0000407	Sensorineural hearing impairment	2239	GPC4	ORPHA:2662
HP:0000407	Sensorineural hearing impairment	27235	COQ2	OMIM:607426
HP:0000407	Sensorineural hearing impairment	10560	SLC19A2	OMIM:249270
HP:0000407	Sensorineural hearing impairment	10560	SLC19A2	ORPHA:49827
HP:0000407	Sensorineural hearing impairment	2067	ERCC1	ORPHA:1466
HP:0000407	Sensorineural hearing impairment	2073	ERCC5	ORPHA:1466
HP:0000407	Sensorineural hearing impairment	2073	ERCC5	ORPHA:910
HP:0000407	Sensorineural hearing impairment	60	ACTB	ORPHA:79107
HP:0000407	Sensorineural hearing impairment	60	ACTB	OMIM:243310
HP:0000407	Sensorineural hearing impairment	60	ACTB	OMIM:607371
HP:0000407	Sensorineural hearing impairment	4982	TNFRSF11B	OMIM:239000
HP:0000407	Sensorineural hearing impairment	8985	PLOD3	OMIM:612394
HP:0000407	Sensorineural hearing impairment	4854	NOTCH3	ORPHA:2789
HP:0000407	Sensorineural hearing impairment	80736	SLC44A4	OMIM:617606
HP:0000407	Sensorineural hearing impairment	23312	DMXL2	OMIM:617605
HP:0000407	Sensorineural hearing impairment	23312	DMXL2	OMIM:618663
HP:0000407	Sensorineural hearing impairment	23476	BRD4	ORPHA:199
HP:0000407	Sensorineural hearing impairment	9126	SMC3	ORPHA:199
HP:0000407	Sensorineural hearing impairment	8243	SMC1A	ORPHA:199
HP:0000407	Sensorineural hearing impairment	8243	SMC1A	ORPHA:220386
HP:0000407	Sensorineural hearing impairment	55869	HDAC8	ORPHA:199
HP:0000407	Sensorineural hearing impairment	5885	RAD21	ORPHA:199
HP:0000407	Sensorineural hearing impairment	157680	VPS13B	ORPHA:193
HP:0000407	Sensorineural hearing impairment	368	ABCC6	ORPHA:51608
HP:0000407	Sensorineural hearing impairment	1213	CLTC	OMIM:617854
HP:0000407	Sensorineural hearing impairment	51520	LARS1	OMIM:615438
HP:0000407	Sensorineural hearing impairment	1890	TYMP	OMIM:603041
HP:0000407	Sensorineural hearing impairment	1890	TYMP	ORPHA:298
HP:0000407	Sensorineural hearing impairment	3425	IDUA	ORPHA:93474
HP:0000407	Sensorineural hearing impairment	3425	IDUA	ORPHA:93476
HP:0000407	Sensorineural hearing impairment	6134	RPL10	ORPHA:435938
HP:0000407	Sensorineural hearing impairment	6134	RPL10	ORPHA:459070
HP:0000407	Sensorineural hearing impairment	60528	ELAC2	OMIM:615440
HP:0000407	Sensorineural hearing impairment	491	ATP2B2	OMIM:619804
HP:0000407	Sensorineural hearing impairment	28957	MRPS28	OMIM:618958
HP:0000407	Sensorineural hearing impairment	60482	SLC5A7	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	4649	MYO9A	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	1305	COL13A1	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	1103	CHAT	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	6576	SLC25A1	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	6843	VAMP1	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	375790	AGRN	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	127833	SYT2	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	6572	SLC18A3	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	6616	SNAP25	ORPHA:98914
HP:0000407	Sensorineural hearing impairment	652	BMP4	ORPHA:139471
HP:0000407	Sensorineural hearing impairment	7518	XRCC4	OMIM:616541
HP:0000407	Sensorineural hearing impairment	4724	NDUFS4	OMIM:252010
HP:0000407	Sensorineural hearing impairment	4724	NDUFS4	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	8192	CLPP	OMIM:614129
HP:0000407	Sensorineural hearing impairment	5879	RAC1	ORPHA:500159
HP:0000407	Sensorineural hearing impairment	5879	RAC1	OMIM:617751
HP:0000407	Sensorineural hearing impairment	23250	ATP11A	OMIM:619810
HP:0000407	Sensorineural hearing impairment	8777	MPDZ	OMIM:615219
HP:0000407	Sensorineural hearing impairment	10383	TUBB4B	OMIM:617879
HP:0000407	Sensorineural hearing impairment	1285	COL4A3	OMIM:104200
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	ORPHA:1427
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	OMIM:184840
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	ORPHA:166100
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	OMIM:601868
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	OMIM:215150
HP:0000407	Sensorineural hearing impairment	1302	COL11A2	OMIM:609706
HP:0000407	Sensorineural hearing impairment	5286	PIK3C2A	ORPHA:557003
HP:0000407	Sensorineural hearing impairment	55553	SOX6	OMIM:618971
HP:0000407	Sensorineural hearing impairment	64221	ROBO3	ORPHA:2744
HP:0000407	Sensorineural hearing impairment	1630	DCC	ORPHA:2744
HP:0000407	Sensorineural hearing impairment	1630	DCC	ORPHA:478
HP:0000407	Sensorineural hearing impairment	8626	TP63	ORPHA:1896
HP:0000407	Sensorineural hearing impairment	8626	TP63	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	16	AARS1	OMIM:613287
HP:0000407	Sensorineural hearing impairment	1297	COL9A1	OMIM:614134
HP:0000407	Sensorineural hearing impairment	1297	COL9A1	ORPHA:250984
HP:0000407	Sensorineural hearing impairment	8449	DHX16	OMIM:618733
HP:0000407	Sensorineural hearing impairment	4014	LORICRIN	ORPHA:79395
HP:0000407	Sensorineural hearing impairment	9381	OTOF	OMIM:601071
HP:0000407	Sensorineural hearing impairment	64699	TMPRSS3	OMIM:601072
HP:0000407	Sensorineural hearing impairment	54539	NDUFB11	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	25915	NDUFAF3	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	51103	NDUFAF1	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	91942	NDUFAF2	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	51300	TIMMDC1	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	51300	TIMMDC1	OMIM:618251
HP:0000407	Sensorineural hearing impairment	4716	NDUFB10	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4723	NDUFV1	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	55572	FOXRED1	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	284184	NDUFAF8	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	55863	TMEM126B	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4537	MT-ND3	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4537	MT-ND3	ORPHA:255210
HP:0000407	Sensorineural hearing impairment	4729	NDUFV2	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4720	NDUFS2	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4726	NDUFS6	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4728	NDUFS8	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4722	NDUFS3	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	79133	NDUFAF5	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	126328	NDUFA11	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4709	NDUFB3	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	80224	NUBPL	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	29078	NDUFAF4	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	374291	NDUFS7	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4700	NDUFA6	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4536	MT-ND2	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4536	MT-ND2	ORPHA:255210
HP:0000407	Sensorineural hearing impairment	4719	NDUFS1	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	4715	NDUFB9	ORPHA:2609
HP:0000407	Sensorineural hearing impairment	29925	GMPPB	OMIM:615350
HP:0000407	Sensorineural hearing impairment	6495	SIX1	OMIM:113650
HP:0000407	Sensorineural hearing impairment	6495	SIX1	OMIM:608389
HP:0000407	Sensorineural hearing impairment	6495	SIX1	OMIM:605192
HP:0000407	Sensorineural hearing impairment	6495	SIX1	ORPHA:52429
HP:0000407	Sensorineural hearing impairment	6834	SURF1	OMIM:616684
HP:0000407	Sensorineural hearing impairment	6834	SURF1	OMIM:220110
HP:0000407	Sensorineural hearing impairment	2697	GJA1	ORPHA:1522
HP:0000407	Sensorineural hearing impairment	56172	ANKH	ORPHA:1522
HP:0000407	Sensorineural hearing impairment	1947	EFNB1	ORPHA:1520
HP:0000407	Sensorineural hearing impairment	4693	NDP	OMIM:310600
HP:0000407	Sensorineural hearing impairment	4693	NDP	ORPHA:649
HP:0000407	Sensorineural hearing impairment	22947	DUX4L1	ORPHA:269
HP:0000407	Sensorineural hearing impairment	1789	DNMT3B	ORPHA:269
HP:0000407	Sensorineural hearing impairment	23347	SMCHD1	ORPHA:269
HP:0000407	Sensorineural hearing impairment	100288687	DUX4	ORPHA:269
HP:0000407	Sensorineural hearing impairment	4508	MT-ATP6	ORPHA:255210
HP:0000407	Sensorineural hearing impairment	267010	RNU12	OMIM:603116
HP:0000407	Sensorineural hearing impairment	23562	CLDN14	OMIM:614035
HP:0000407	Sensorineural hearing impairment	4254	KITLG	OMIM:616697
HP:0000407	Sensorineural hearing impairment	4254	KITLG	ORPHA:895
HP:0000407	Sensorineural hearing impairment	4254	KITLG	OMIM:619947
HP:0000407	Sensorineural hearing impairment	128486	FITM2	OMIM:618635
HP:0000407	Sensorineural hearing impairment	3980	LIG3	ORPHA:298
HP:0000407	Sensorineural hearing impairment	80153	EDC3	OMIM:616460
HP:0000407	Sensorineural hearing impairment	1600	DAB1	ORPHA:363710
HP:0000407	Sensorineural hearing impairment	55870	ASH1L	OMIM:617796
HP:0000407	Sensorineural hearing impairment	1298	COL9A2	OMIM:614284
HP:0000407	Sensorineural hearing impairment	1298	COL9A2	ORPHA:250984
HP:0000407	Sensorineural hearing impairment	9692	PRORP	OMIM:619737
HP:0000407	Sensorineural hearing impairment	2200	FBN1	ORPHA:2833
HP:0000407	Sensorineural hearing impairment	23761	PISD	OMIM:618889
HP:0000407	Sensorineural hearing impairment	83480	PUS3	ORPHA:488627
HP:0000407	Sensorineural hearing impairment	7020	TFAP2A	OMIM:113620
HP:0000407	Sensorineural hearing impairment	22884	WDR37	OMIM:618652
HP:0000407	Sensorineural hearing impairment	388551	CEACAM16	OMIM:618410
HP:0000407	Sensorineural hearing impairment	388551	CEACAM16	OMIM:614614
HP:0000407	Sensorineural hearing impairment	84173	ELMOD3	OMIM:619500
HP:0000407	Sensorineural hearing impairment	5424	POLD1	OMIM:615381
HP:0000407	Sensorineural hearing impairment	26284	ERAL1	OMIM:617565
HP:0000407	Sensorineural hearing impairment	55012	PPP2R3C	OMIM:618419
HP:0000407	Sensorineural hearing impairment	93627	TBCK	ORPHA:488632
HP:0000407	Sensorineural hearing impairment	595	CCND1	OMIM:193300
HP:0000407	Sensorineural hearing impairment	7428	VHL	OMIM:193300
HP:0000407	Sensorineural hearing impairment	8642	DCHS1	OMIM:601390
HP:0000407	Sensorineural hearing impairment	2296	FOXC1	OMIM:602482
HP:0000407	Sensorineural hearing impairment	3476	IGBP1	ORPHA:52055
HP:0000407	Sensorineural hearing impairment	3476	IGBP1	OMIM:300472
HP:0000407	Sensorineural hearing impairment	57167	SALL4	ORPHA:233
HP:0000407	Sensorineural hearing impairment	57167	SALL4	ORPHA:959
HP:0000407	Sensorineural hearing impairment	57167	SALL4	OMIM:607323
HP:0000407	Sensorineural hearing impairment	9935	MAFB	ORPHA:233
HP:0000407	Sensorineural hearing impairment	1123	CHN1	ORPHA:233
HP:0000407	Sensorineural hearing impairment	23262	PPIP5K2	OMIM:618422
HP:0000407	Sensorineural hearing impairment	1182	CLCN3	OMIM:619512
HP:0000407	Sensorineural hearing impairment	85301	COL27A1	OMIM:615155
HP:0000407	Sensorineural hearing impairment	8879	SGPL1	OMIM:617575
HP:0000407	Sensorineural hearing impairment	9453	GGPS1	OMIM:619518
HP:0000407	Sensorineural hearing impairment	59335	PRDM12	OMIM:616488
HP:0000407	Sensorineural hearing impairment	9786	KIAA0586	OMIM:616490
HP:0000407	Sensorineural hearing impairment	4286	MITF	OMIM:193510
HP:0000407	Sensorineural hearing impairment	4286	MITF	ORPHA:895
HP:0000407	Sensorineural hearing impairment	4849	CNOT3	OMIM:618672
HP:0000407	Sensorineural hearing impairment	9158	FIBP	OMIM:617107
HP:0000407	Sensorineural hearing impairment	9158	FIBP	ORPHA:500095
HP:0000407	Sensorineural hearing impairment	57492	ARID1B	ORPHA:251056
HP:0000407	Sensorineural hearing impairment	7841	MOGS	ORPHA:79330
HP:0000407	Sensorineural hearing impairment	7841	MOGS	OMIM:606056
HP:0000407	Sensorineural hearing impairment	11107	PRDM5	ORPHA:90354
HP:0000407	Sensorineural hearing impairment	84627	ZNF469	ORPHA:90354
HP:0000407	Sensorineural hearing impairment	51651	PTRH2	OMIM:616263
HP:0000407	Sensorineural hearing impairment	51651	PTRH2	ORPHA:456312
HP:0000407	Sensorineural hearing impairment	85365	ALG2	OMIM:607906
HP:0000407	Sensorineural hearing impairment	79977	GRHL2	OMIM:616029
HP:0000407	Sensorineural hearing impairment	79977	GRHL2	OMIM:608641
HP:0000407	Sensorineural hearing impairment	2317	FLNB	OMIM:272460
HP:0000407	Sensorineural hearing impairment	79087	ALG12	ORPHA:79324
HP:0000407	Sensorineural hearing impairment	79087	ALG12	OMIM:607143
HP:0000407	Sensorineural hearing impairment	9896	FIG4	OMIM:216340
HP:0000407	Sensorineural hearing impairment	1749	DLX5	OMIM:220600
HP:0000407	Sensorineural hearing impairment	1749	DLX5	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	10750	GRAP	OMIM:618456
HP:0000407	Sensorineural hearing impairment	124976	SPNS2	OMIM:618457
HP:0000407	Sensorineural hearing impairment	8905	AP1S2	OMIM:304340
HP:0000407	Sensorineural hearing impairment	8803	SUCLA2	ORPHA:1933
HP:0000407	Sensorineural hearing impairment	8803	SUCLA2	OMIM:612073
HP:0000407	Sensorineural hearing impairment	10371	SEMA3A	ORPHA:478
HP:0000407	Sensorineural hearing impairment	81848	SPRY4	ORPHA:478
HP:0000407	Sensorineural hearing impairment	23767	FLRT3	ORPHA:478
HP:0000407	Sensorineural hearing impairment	79625	NDNF	ORPHA:478
HP:0000407	Sensorineural hearing impairment	389549	FEZF1	ORPHA:478
HP:0000407	Sensorineural hearing impairment	3730	ANOS1	ORPHA:478
HP:0000407	Sensorineural hearing impairment	54756	IL17RD	ORPHA:478
HP:0000407	Sensorineural hearing impairment	285025	CCDC141	ORPHA:478
HP:0000407	Sensorineural hearing impairment	60675	PROK2	ORPHA:478
HP:0000407	Sensorineural hearing impairment	1848	DUSP6	ORPHA:478
HP:0000407	Sensorineural hearing impairment	6870	TACR3	ORPHA:478
HP:0000407	Sensorineural hearing impairment	9394	HS6ST1	ORPHA:478
HP:0000407	Sensorineural hearing impairment	8822	FGF17	ORPHA:478
HP:0000407	Sensorineural hearing impairment	10456	HAX1	OMIM:610738
HP:0000407	Sensorineural hearing impairment	10466	COG5	ORPHA:263487
HP:0000407	Sensorineural hearing impairment	53405	CLIC5	OMIM:616042
HP:0000407	Sensorineural hearing impairment	54892	NCAPG2	OMIM:618460
HP:0000407	Sensorineural hearing impairment	6548	SLC9A1	OMIM:616291
HP:0000407	Sensorineural hearing impairment	1387	CREBBP	ORPHA:353281
HP:0000407	Sensorineural hearing impairment	1387	CREBBP	ORPHA:353277
HP:0000407	Sensorineural hearing impairment	29998	BICRA	OMIM:619325
HP:0000407	Sensorineural hearing impairment	9342	SNAP29	ORPHA:66631
HP:0000407	Sensorineural hearing impairment	9342	SNAP29	OMIM:609528
HP:0000407	Sensorineural hearing impairment	2033	EP300	ORPHA:353284
HP:0000407	Sensorineural hearing impairment	51360	MBTPS2	ORPHA:659
HP:0000407	Sensorineural hearing impairment	162514	TRPV3	ORPHA:659
HP:0000407	Sensorineural hearing impairment	64065	PERP	ORPHA:659
HP:0000407	Sensorineural hearing impairment	977	CD151	OMIM:609057
HP:0000407	Sensorineural hearing impairment	79068	FTO	OMIM:612938
HP:0000407	Sensorineural hearing impairment	10059	DNM1L	ORPHA:98673
HP:0000407	Sensorineural hearing impairment	124842	TMEM132E	OMIM:618481
HP:0000407	Sensorineural hearing impairment	57551	TAOK1	OMIM:619575
HP:0000407	Sensorineural hearing impairment	79955	PDZD7	OMIM:618003
HP:0000407	Sensorineural hearing impairment	79955	PDZD7	ORPHA:231178
HP:0000407	Sensorineural hearing impairment	291	SLC25A4	OMIM:609283
HP:0000407	Sensorineural hearing impairment	2070	EYA4	OMIM:601316
HP:0000407	Sensorineural hearing impairment	2070	EYA4	OMIM:605362
HP:0000407	Sensorineural hearing impairment	55814	BDP1	OMIM:618257
HP:0000407	Sensorineural hearing impairment	2705	GJB1	OMIM:302800
HP:0000407	Sensorineural hearing impairment	8635	RNASET2	OMIM:612951
HP:0000407	Sensorineural hearing impairment	9791	PTDSS1	OMIM:151050
HP:0000407	Sensorineural hearing impairment	51095	TRNT1	OMIM:616084
HP:0000407	Sensorineural hearing impairment	4629	MYH11	OMIM:619351
HP:0000407	Sensorineural hearing impairment	25861	WHRN	OMIM:607084
HP:0000407	Sensorineural hearing impairment	25861	WHRN	ORPHA:231178
HP:0000407	Sensorineural hearing impairment	29926	GMPPA	ORPHA:869
HP:0000407	Sensorineural hearing impairment	60684	TRAPPC11	ORPHA:869
HP:0000407	Sensorineural hearing impairment	8086	AAAS	ORPHA:869
HP:0000407	Sensorineural hearing impairment	3198	HOXA1	OMIM:601536
HP:0000407	Sensorineural hearing impairment	51715	RAB23	OMIM:201000
HP:0000407	Sensorineural hearing impairment	55755	CDK5RAP2	OMIM:604804
HP:0000407	Sensorineural hearing impairment	23516	SLC39A14	OMIM:144755
HP:0000407	Sensorineural hearing impairment	4222	MEOX1	OMIM:214300
HP:0000407	Sensorineural hearing impairment	9759	HDAC4	OMIM:600430
HP:0000407	Sensorineural hearing impairment	7299	TYR	ORPHA:895
HP:0000407	Sensorineural hearing impairment	6591	SNAI2	ORPHA:895
HP:0000407	Sensorineural hearing impairment	22800	RRAS2	ORPHA:648
HP:0000407	Sensorineural hearing impairment	867	CBL	ORPHA:648
HP:0000407	Sensorineural hearing impairment	8216	LZTR1	ORPHA:648
HP:0000407	Sensorineural hearing impairment	6016	RIT1	ORPHA:648
HP:0000407	Sensorineural hearing impairment	6237	RRAS	ORPHA:648
HP:0000407	Sensorineural hearing impairment	3845	KRAS	ORPHA:648
HP:0000407	Sensorineural hearing impairment	200734	SPRED2	ORPHA:648
HP:0000407	Sensorineural hearing impairment	6654	SOS1	ORPHA:648
HP:0000407	Sensorineural hearing impairment	6655	SOS2	ORPHA:648
HP:0000407	Sensorineural hearing impairment	5922	RASA2	ORPHA:648
HP:0000407	Sensorineural hearing impairment	83715	ESPN	OMIM:609006
HP:0000407	Sensorineural hearing impairment	83715	ESPN	ORPHA:231169
HP:0000407	Sensorineural hearing impairment	23438	HARS2	OMIM:614926
HP:0000407	Sensorineural hearing impairment	84233	TMEM126A	OMIM:612989
HP:0000407	Sensorineural hearing impairment	5076	PAX2	OMIM:120330
HP:0000407	Sensorineural hearing impairment	4668	NAGA	OMIM:609242
HP:0000407	Sensorineural hearing impairment	8665	EIF3F	OMIM:618295
HP:0000407	Sensorineural hearing impairment	4771	NF2	ORPHA:637
HP:0000407	Sensorineural hearing impairment	27183	VPS4A	OMIM:619273
HP:0000407	Sensorineural hearing impairment	84189	SLITRK6	OMIM:221200
HP:0000407	Sensorineural hearing impairment	10134	BCAP31	OMIM:300475
HP:0000407	Sensorineural hearing impairment	126326	GIPC3	OMIM:601869
HP:0000407	Sensorineural hearing impairment	146227	BEAN1	OMIM:117210
HP:0000407	Sensorineural hearing impairment	4570	MT-TN	OMIM:220110
HP:0000407	Sensorineural hearing impairment	59341	TRPV4	OMIM:606071
HP:0000407	Sensorineural hearing impairment	494513	PJVK	OMIM:610220
HP:0000407	Sensorineural hearing impairment	95	ACY1	ORPHA:137754
HP:0000407	Sensorineural hearing impairment	95	ACY1	OMIM:609924
HP:0000407	Sensorineural hearing impairment	10992	SF3B2	OMIM:164210
HP:0000407	Sensorineural hearing impairment	5111	PCNA	OMIM:615919
HP:0000407	Sensorineural hearing impairment	1299	COL9A3	OMIM:620022
HP:0000407	Sensorineural hearing impairment	1299	COL9A3	ORPHA:250984
HP:0000407	Sensorineural hearing impairment	162	AP1B1	OMIM:242150
HP:0000407	Sensorineural hearing impairment	1352	COX10	OMIM:619046
HP:0000407	Sensorineural hearing impairment	686	BTD	OMIM:253260
HP:0000407	Sensorineural hearing impairment	686	BTD	ORPHA:79241
HP:0000407	Sensorineural hearing impairment	7080	NKX2-1	ORPHA:209905
HP:0000407	Sensorineural hearing impairment	7276	TTR	OMIM:105210
HP:0000407	Sensorineural hearing impairment	132158	GLYCTK	OMIM:220120
HP:0000407	Sensorineural hearing impairment	9131	AIFM1	OMIM:310490
HP:0000407	Sensorineural hearing impairment	26090	ABHD12	OMIM:612674
HP:0000407	Sensorineural hearing impairment	5978	REST	OMIM:612431
HP:0000407	Sensorineural hearing impairment	1174	AP1S1	OMIM:609313
HP:0000407	Sensorineural hearing impairment	4953	ODC1	OMIM:619075
HP:0000407	Sensorineural hearing impairment	4953	ODC1	ORPHA:544488
HP:0000407	Sensorineural hearing impairment	5251	PHEX	ORPHA:89936
HP:0000407	Sensorineural hearing impairment	392255	GDF6	OMIM:118100
HP:0000407	Sensorineural hearing impairment	3028	HSD17B10	OMIM:300438
HP:0000407	Sensorineural hearing impairment	54084	TSPEAR	OMIM:614861
HP:0000407	Sensorineural hearing impairment	6804	STX1A	ORPHA:904
HP:0000407	Sensorineural hearing impairment	7461	CLIP2	ORPHA:904
HP:0000407	Sensorineural hearing impairment	84277	DNAJC30	ORPHA:904
HP:0000407	Sensorineural hearing impairment	8468	FKBP6	ORPHA:904
HP:0000407	Sensorineural hearing impairment	5982	RFC2	ORPHA:904
HP:0000407	Sensorineural hearing impairment	2969	GTF2I	ORPHA:904
HP:0000407	Sensorineural hearing impairment	3984	LIMK1	ORPHA:904
HP:0000407	Sensorineural hearing impairment	9569	GTF2IRD1	ORPHA:904
HP:0000407	Sensorineural hearing impairment	155382	VPS37D	ORPHA:904
HP:0000407	Sensorineural hearing impairment	155368	METTL27	ORPHA:904
HP:0000407	Sensorineural hearing impairment	114049	BUD23	ORPHA:904
HP:0000407	Sensorineural hearing impairment	7458	EIF4H	ORPHA:904
HP:0000407	Sensorineural hearing impairment	84163	GTF2IRD2	ORPHA:904
HP:0000407	Sensorineural hearing impairment	9275	BCL7B	ORPHA:904
HP:0000407	Sensorineural hearing impairment	26608	TBL2	ORPHA:904
HP:0000407	Sensorineural hearing impairment	653361	NCF1	ORPHA:904
HP:0000407	Sensorineural hearing impairment	135886	TMEM270	ORPHA:904
HP:0000407	Sensorineural hearing impairment	51085	MLXIPL	ORPHA:904
HP:0000407	Sensorineural hearing impairment	51085	MLXIPL	OMIM:194050
HP:0000407	Sensorineural hearing impairment	9031	BAZ1B	ORPHA:904
HP:0000407	Sensorineural hearing impairment	2006	ELN	ORPHA:904
HP:0000407	Sensorineural hearing impairment	2006	ELN	OMIM:194050
HP:0000407	Sensorineural hearing impairment	1493	CTLA4	ORPHA:900
HP:0000407	Sensorineural hearing impairment	3115	HLA-DPB1	ORPHA:900
HP:0000407	Sensorineural hearing impairment	5657	PRTN3	ORPHA:900
HP:0000407	Sensorineural hearing impairment	3113	HLA-DPA1	ORPHA:900
HP:0000407	Sensorineural hearing impairment	5159	PDGFRB	OMIM:601812
HP:0000407	Sensorineural hearing impairment	5591	PRKDC	OMIM:615966
HP:0000407	Sensorineural hearing impairment	65217	PCDH15	OMIM:609533
HP:0000407	Sensorineural hearing impairment	65217	PCDH15	ORPHA:231169
HP:0000407	Sensorineural hearing impairment	10430	TMEM147	OMIM:620075
HP:0000407	Sensorineural hearing impairment	9080	CLDN9	OMIM:619093
HP:0000407	Sensorineural hearing impairment	9939	RBM8A	ORPHA:3320
HP:0000407	Sensorineural hearing impairment	50945	TBX22	ORPHA:921
HP:0000407	Sensorineural hearing impairment	92154	MTSS2	OMIM:620086
HP:0000407	Sensorineural hearing impairment	51004	COQ6	OMIM:614650
HP:0000407	Sensorineural hearing impairment	2702	GJA5	OMIM:612474
HP:0000407	Sensorineural hearing impairment	2703	GJA8	OMIM:612474
HP:0000407	Sensorineural hearing impairment	170302	ARX	OMIM:300419
HP:0000407	Sensorineural hearing impairment	84695	LOXL3	ORPHA:250984
HP:0000407	Sensorineural hearing impairment	79628	SH3TC2	ORPHA:99949
HP:0000407	Sensorineural hearing impairment	9927	MFN2	ORPHA:99947
HP:0000407	Sensorineural hearing impairment	7507	XPA	ORPHA:910
HP:0000407	Sensorineural hearing impairment	7507	XPA	OMIM:278700
HP:0000407	Sensorineural hearing impairment	7508	XPC	ORPHA:910
HP:0000407	Sensorineural hearing impairment	1643	DDB2	ORPHA:910
HP:0000407	Sensorineural hearing impairment	2072	ERCC4	ORPHA:910
HP:0000407	Sensorineural hearing impairment	9420	CYP7B1	ORPHA:100986
HP:0000407	Sensorineural hearing impairment	9420	CYP7B1	OMIM:270800
HP:0000407	Sensorineural hearing impairment	57704	GBA2	ORPHA:352641
HP:0000407	Sensorineural hearing impairment	7545	ZIC1	OMIM:616602
HP:0000407	Sensorineural hearing impairment	8556	CDC14A	OMIM:608653
HP:0000407	Sensorineural hearing impairment	6731	SRP72	OMIM:614675
HP:0000407	Sensorineural hearing impairment	91869	RFT1	OMIM:612015
HP:0000407	Sensorineural hearing impairment	1750	DLX6	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	7979	SEM1	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	8945	BTRC	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	58513	EPS15L1	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	6468	FBXW4	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	7480	WNT10B	ORPHA:2440
HP:0000407	Sensorineural hearing impairment	51116	MRPS2	OMIM:617950
HP:0000407	Sensorineural hearing impairment	55033	FKBP14	ORPHA:300179
HP:0000407	Sensorineural hearing impairment	10265	IRX5	OMIM:611174
HP:0000407	Sensorineural hearing impairment	405753	DUOXA2	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	6528	SLC5A5	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	7038	TG	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	7173	TPO	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	389434	IYD	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	50506	DUOX2	ORPHA:95716
HP:0000407	Sensorineural hearing impairment	2058	EPRS1	OMIM:617951
HP:0000407	Sensorineural hearing impairment	27315	PGAP2	OMIM:614207
HP:0000407	Sensorineural hearing impairment	708	C1QBP	OMIM:617713
HP:0000407	Sensorineural hearing impairment	128989	TANGO2	ORPHA:480864
HP:0000407	Sensorineural hearing impairment	128989	TANGO2	OMIM:616878
HP:0000407	Sensorineural hearing impairment	23676	SMPX	OMIM:300066
HP:0000407	Sensorineural hearing impairment	64423	INF2	OMIM:614455
HP:0000407	Sensorineural hearing impairment	79633	FAT4	OMIM:615546
HP:0000407	Sensorineural hearing impairment	2584	GALK1	ORPHA:79237
HP:0000407	Sensorineural hearing impairment	84059	ADGRV1	ORPHA:231178
HP:0000407	Sensorineural hearing impairment	246213	SLC17A8	OMIM:605583
HP:0000407	Sensorineural hearing impairment	3295	HSD17B4	OMIM:233400
HP:0000407	Sensorineural hearing impairment	3035	HARS1	ORPHA:231183
HP:0000407	Sensorineural hearing impairment	10558	SPTLC1	OMIM:162400
HP:0000407	Sensorineural hearing impairment	182	JAG1	OMIM:617992
HP:0000407	Sensorineural hearing impairment	2990	GUSB	OMIM:253220
HP:0000407	Sensorineural hearing impairment	5116	PCNT	ORPHA:2637
HP:0000407	Sensorineural hearing impairment	63929	XPNPEP3	OMIM:613159
HP:0000407	Sensorineural hearing impairment	57731	SPTBN4	OMIM:617519
HP:0000407	Sensorineural hearing impairment	64072	CDH23	ORPHA:231169
HP:0000407	Sensorineural hearing impairment	5604	MAP2K1	OMIM:163950
HP:0000407	Sensorineural hearing impairment	2582	GALE	OMIM:230350
HP:0000407	Sensorineural hearing impairment	114548	NLRP3	ORPHA:575
HP:0000407	Sensorineural hearing impairment	114548	NLRP3	OMIM:191900
HP:0000407	Sensorineural hearing impairment	114548	NLRP3	OMIM:607115
HP:0000407	Sensorineural hearing impairment	7840	ALMS1	ORPHA:64
HP:0000407	Sensorineural hearing impairment	7840	ALMS1	OMIM:203800
HP:0000407	Sensorineural hearing impairment	4694	NDUFA1	OMIM:301020
HP:0000407	Sensorineural hearing impairment	1687	GSDME	OMIM:600994
HP:0000407	Sensorineural hearing impairment	10205	MPZL2	OMIM:618145
HP:0000407	Sensorineural hearing impairment	407053	MIR96	OMIM:613074
HP:0000407	Sensorineural hearing impairment	10463	SLC30A9	OMIM:617595
HP:0000407	Sensorineural hearing impairment	22901	ARSG	OMIM:618144
HP:0000407	Sensorineural hearing impairment	2625	GATA3	ORPHA:2237
HP:0000407	Sensorineural hearing impairment	4171	MCM2	OMIM:616968
HP:0000407	Sensorineural hearing impairment	53904	MYO3A	OMIM:607101
HP:0000407	Sensorineural hearing impairment	2671	GFER	ORPHA:330054
HP:0000407	Sensorineural hearing impairment	8085	KMT2D	OMIM:620186
HP:0000407	Sensorineural hearing impairment	10804	GJB6	OMIM:304400
HP:0000407	Sensorineural hearing impairment	2706	GJB2	OMIM:304400
HP:0000407	Sensorineural hearing impairment	4359	MPZ	OMIM:607736
HP:0000407	Sensorineural hearing impairment	1678	TIMM8A	OMIM:304700
HP:0000407	Sensorineural hearing impairment	79966	SCD5	OMIM:619086
HP:0000407	Sensorineural hearing impairment	4646	MYO6	OMIM:606346
HP:0000407	Sensorineural hearing impairment	478	ATP1A3	OMIM:601338
HP:0000407	Sensorineural hearing impairment	7466	WFS1	OMIM:600965
HP:0000407	Sensorineural hearing impairment	163183	SYNE4	OMIM:615540
HP:0000407	Sensorineural hearing impairment	389207	GRXCR1	OMIM:613285
HP:0000407	Sensorineural hearing impairment	23395	LARS2	OMIM:615300
HP:0000407	Sensorineural hearing impairment	286262	TPRN	OMIM:613307
HP:0000407	Sensorineural hearing impairment	4976	OPA1	OMIM:125250
HP:0000407	Sensorineural hearing impairment	22953	P2RX2	OMIM:608224
HP:0000407	Sensorineural hearing impairment	10755	GIPC1	ORPHA:98897
HP:0000407	Sensorineural hearing impairment	100996717	NOTCH2NLC	ORPHA:98897
HP:0000407	Sensorineural hearing impairment	64840	PORCN	OMIM:305600
HP:0000407	Sensorineural hearing impairment	126792	B3GALT6	ORPHA:536467
HP:0000407	Sensorineural hearing impairment	166929	SGMS2	OMIM:126550
HP:0000407	Sensorineural hearing impairment	415	ARSL	ORPHA:79345
HP:0000407	Sensorineural hearing impairment	9401	RECQL4	OMIM:218600
HP:0000407	Sensorineural hearing impairment	3199	HOXA2	OMIM:612290
HP:0000407	Sensorineural hearing impairment	5075	PAX1	OMIM:615560
HP:0000407	Sensorineural hearing impairment	1009	CDH11	ORPHA:1299
HP:0000407	Sensorineural hearing impairment	55294	FBXW7	OMIM:620012
HP:0000407	Sensorineural hearing impairment	56975	FAM20C	OMIM:259775
HP:0000407	Sensorineural hearing impairment	11190	CEP250	OMIM:618358
HP:0000407	Sensorineural hearing impairment	26012	NSMF	ORPHA:432
HP:0000407	Sensorineural hearing impairment	2796	GNRH1	ORPHA:432
HP:0000407	Sensorineural hearing impairment	2798	GNRHR	ORPHA:432
HP:0000407	Sensorineural hearing impairment	84634	KISS1R	ORPHA:432
HP:0000407	Sensorineural hearing impairment	6866	TAC3	ORPHA:432
HP:0000407	Sensorineural hearing impairment	3814	KISS1	ORPHA:432
HP:0000407	Sensorineural hearing impairment	51241	COX16	OMIM:619355
HP:0000407	Sensorineural hearing impairment	80000	GREB1L	OMIM:619274
HP:0000407	Sensorineural hearing impairment	51081	MRPS7	OMIM:617872
HP:0000407	Sensorineural hearing impairment	220074	LRTOMT	OMIM:611451
HP:0000407	Sensorineural hearing impairment	4919	ROR1	OMIM:617654
HP:0000407	Sensorineural hearing impairment	5959	RDH5	ORPHA:52427
HP:0000407	Sensorineural hearing impairment	54845	ESRP1	OMIM:618013
HP:0000407	Sensorineural hearing impairment	8942	KYNU	ORPHA:79155
HP:0000407	Sensorineural hearing impairment	10269	ZMPSTE24	ORPHA:740
HP:0000407	Sensorineural hearing impairment	1757	SARDH	ORPHA:3129
HP:0000407	Sensorineural hearing impairment	10216	PRG4	ORPHA:2848
HP:0000407	Sensorineural hearing impairment	54820	NDE1	ORPHA:2177
HP:0000407	Sensorineural hearing impairment	7084	TK2	ORPHA:254875
HP:0000407	Sensorineural hearing impairment	26040	SETBP1	ORPHA:798
HP:0000407	Sensorineural hearing impairment	22943	DKK1	ORPHA:268882
HP:0000407	Sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0000407	Sensorineural hearing impairment	7809	BSND	ORPHA:89938
HP:0000407	Sensorineural hearing impairment	1188	CLCNKB	ORPHA:89938
HP:0000407	Sensorineural hearing impairment	1187	CLCNKA	ORPHA:89938
HP:0000407	Sensorineural hearing impairment	79784	MYH14	ORPHA:397744
HP:0000407	Sensorineural hearing impairment	27316	RBMX	OMIM:300238
HP:0000407	Sensorineural hearing impairment	410	ARSA	ORPHA:309256
HP:0000407	Sensorineural hearing impairment	410	ARSA	ORPHA:309271
HP:0000407	Sensorineural hearing impairment	410	ARSA	ORPHA:309263
HP:0000407	Sensorineural hearing impairment	5660	PSAP	ORPHA:309256
HP:0000407	Sensorineural hearing impairment	5660	PSAP	ORPHA:309271
HP:0000407	Sensorineural hearing impairment	5660	PSAP	ORPHA:309263
HP:0000407	Sensorineural hearing impairment	23126	POGZ	OMIM:616364
HP:0000407	Sensorineural hearing impairment	6711	SPTBN1	OMIM:619475
HP:0000407	Sensorineural hearing impairment	222662	LHFPL5	OMIM:610265
HP:0000407	Sensorineural hearing impairment	3753	KCNE1	ORPHA:90647
HP:0000407	Sensorineural hearing impairment	3784	KCNQ1	ORPHA:90647
HP:0000407	Sensorineural hearing impairment	84334	COA8	ORPHA:436271
HP:0000407	Sensorineural hearing impairment	80067	DCAF17	ORPHA:3464
HP:0000407	Sensorineural hearing impairment	92935	MARS2	ORPHA:314603
HP:0000407	Sensorineural hearing impairment	2521	FUS	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	8878	SQSTM1	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	7415	VCP	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	23435	TARDBP	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	29110	TBK1	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	400916	CHCHD10	ORPHA:275872
HP:0000407	Sensorineural hearing impairment	643226	GRXCR2	OMIM:615837
HP:0000407	Sensorineural hearing impairment	25914	RTTN	ORPHA:468631
HP:0000407	Sensorineural hearing impairment	5428	POLG	ORPHA:70595
HP:0000407	Sensorineural hearing impairment	56652	TWNK	ORPHA:70595
HP:0000407	Sensorineural hearing impairment	6558	SLC12A2	OMIM:619083
HP:0000407	Sensorineural hearing impairment	6558	SLC12A2	OMIM:619080
HP:0000407	Sensorineural hearing impairment	57465	TBC1D24	OMIM:220500
HP:0000407	Sensorineural hearing impairment	79731	NARS2	OMIM:618434
HP:0000407	Sensorineural hearing impairment	1288	COL4A6	OMIM:300914
HP:0000407	Sensorineural hearing impairment	526	ATP6V1B2	OMIM:124480
HP:0000407	Sensorineural hearing impairment	2811	GP1BA	ORPHA:853
HP:0000407	Sensorineural hearing impairment	2812	GP1BB	ORPHA:853
HP:0000407	Sensorineural hearing impairment	3674	ITGA2B	ORPHA:853
HP:0000407	Sensorineural hearing impairment	3673	ITGA2	ORPHA:853
HP:0000407	Sensorineural hearing impairment	135228	CD109	ORPHA:853
HP:0000407	Sensorineural hearing impairment	3690	ITGB3	ORPHA:853
HP:0000407	Sensorineural hearing impairment	4131	MAP1B	OMIM:619808
HP:0000407	Sensorineural hearing impairment	5456	POU3F4	ORPHA:1435
HP:0000407	Sensorineural hearing impairment	51	ACOX1	OMIM:264470
HP:0000407	Sensorineural hearing impairment	4512	MT-CO1	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4513	MT-CO2	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4514	MT-CO3	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4519	MT-CYB	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4511	MT-TC	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4574	MT-TS1	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4575	MT-TS2	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4558	MT-TF	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4541	MT-ND6	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4567	MT-TL1	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4540	MT-ND5	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4566	MT-TK	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4535	MT-ND1	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4572	MT-TQ	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4577	MT-TV	OMIM:540000
HP:0000407	Sensorineural hearing impairment	4578	MT-TW	OMIM:540000
HP:0000407	Sensorineural hearing impairment	55739	NAXD	OMIM:618321
HP:0000407	Sensorineural hearing impairment	50484	RRM2B	OMIM:268315
HP:0000407	Sensorineural hearing impairment	71	ACTG1	OMIM:604717
HP:0000407	Sensorineural hearing impairment	125336	LOXHD1	OMIM:613079
HP:0000407	Sensorineural hearing impairment	8565	YARS1	OMIM:619418
HP:0000407	Sensorineural hearing impairment	10381	TUBB3	ORPHA:300570
HP:0000407	Sensorineural hearing impairment	131118	DNAJC19	ORPHA:66634
HP:0000407	Sensorineural hearing impairment	55699	IARS2	ORPHA:436174
HP:0000407	Sensorineural hearing impairment	2961	GTF2E2	OMIM:616943
HP:0000407	Sensorineural hearing impairment	2961	GTF2E2	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	404672	GTF2H5	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	833	CARS1	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	2068	ERCC2	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	7737	RNF113A	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	136647	MPLKIP	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	6897	TARS1	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	2071	ERCC3	ORPHA:33364
HP:0000407	Sensorineural hearing impairment	3954	LETM1	OMIM:620089
HP:0000407	Sensorineural hearing impairment	22856	CHSY1	OMIM:605282
HP:0000407	Sensorineural hearing impairment	50617	ATP6V0A4	OMIM:602722
HP:0000407	Sensorineural hearing impairment	5611	DNAJC3	ORPHA:445062
HP:0000407	Sensorineural hearing impairment	219972	MPEG1	OMIM:619223
HP:0000407	Sensorineural hearing impairment	10533	ATG7	OMIM:619422
HP:0000407	Sensorineural hearing impairment	22808	MRAS	OMIM:618499
HP:0000407	Sensorineural hearing impairment	4647	MYO7A	OMIM:601317
HP:0000407	Sensorineural hearing impairment	92949	ADAMTSL1	ORPHA:521445
HP:0000407	Sensorineural hearing impairment	117155	CATSPER2	OMIM:611102
HP:0000407	Sensorineural hearing impairment	161497	STRC	OMIM:611102
HP:0000407	Sensorineural hearing impairment	51776	MAP3K20	ORPHA:488232
HP:0000407	Sensorineural hearing impairment	1834	DSPP	OMIM:605594
HP:0000407	Sensorineural hearing impairment	4990	SIX6	OMIM:206900
HP:0000407	Sensorineural hearing impairment	6657	SOX2	OMIM:206900
HP:0000407	Sensorineural hearing impairment	29899	GPSM2	OMIM:604213
HP:0000407	Sensorineural hearing impairment	11078	TRIOBP	OMIM:609823
HP:0000407	Sensorineural hearing impairment	30813	VSX1	OMIM:614195
HP:0000407	Sensorineural hearing impairment	5962	RDX	OMIM:611022
HP:0000407	Sensorineural hearing impairment	3735	KARS1	OMIM:619196
HP:0000407	Sensorineural hearing impairment	10518	CIB2	OMIM:609439
HP:0000407	Sensorineural hearing impairment	5376	PMP22	ORPHA:90658
HP:0000407	Sensorineural hearing impairment	5631	PRPS1	ORPHA:1187
HP:0000407	Sensorineural hearing impairment	51168	MYO15A	OMIM:600316
HP:0000407	Sensorineural hearing impairment	2248	FGF3	OMIM:610706
HP:0000407	Sensorineural hearing impairment	847	CAT	ORPHA:926
HP:0008537	Cleft at the superior portion of the pinna	5332	PLCB4	OMIM:614669
HP:0008537	Cleft at the superior portion of the pinna	2773	GNAI3	OMIM:602483
HP:0031992	Apical hypertrophic cardiomyopathy	7414	VCL	OMIM:613255
HP:0031992	Apical hypertrophic cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0031992	Apical hypertrophic cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0008541	Superiorly displaced ears	26137	ZBTB20	OMIM:259050
HP:0008544	Abnormally folded helix	60	ACTB	OMIM:243310
HP:0008544	Abnormally folded helix	9949	AMMECR1	OMIM:300990
HP:0008544	Abnormally folded helix	9488	PIGB	OMIM:618580
HP:0008544	Abnormally folded helix	10771	ZMYND11	OMIM:616083
HP:0008544	Abnormally folded helix	8243	SMC1A	OMIM:301044
HP:0008544	Abnormally folded helix	253738	EBF3	OMIM:617330
HP:0008544	Abnormally folded helix	6909	TBX2	OMIM:618223
HP:0008544	Abnormally folded helix	8260	NAA10	OMIM:309800
HP:0008544	Abnormally folded helix	54880	BCOR	OMIM:309800
HP:0008544	Abnormally folded helix	2187	FANCB	OMIM:300514
HP:0008544	Abnormally folded helix	6228	RPS23	OMIM:617412
HP:0008544	Abnormally folded helix	4774	NFIA	OMIM:613735
HP:0008544	Abnormally folded helix	1836	SLC26A2	ORPHA:628
HP:0008544	Abnormally folded helix	8085	KMT2D	OMIM:620186
HP:0008544	Abnormally folded helix	9401	RECQL4	OMIM:268400
HP:0008544	Abnormally folded helix	79848	CSPP1	ORPHA:397715
HP:0008544	Abnormally folded helix	9786	KIAA0586	ORPHA:397715
HP:0008544	Abnormally folded helix	283209	PGM2L1	OMIM:620191
HP:0008544	Abnormally folded helix	284252	KCTD1	OMIM:181270
HP:0008544	Abnormally folded helix	10682	EBP	OMIM:300960
HP:0008544	Abnormally folded helix	1457	CSNK2A1	OMIM:617062
HP:0008544	Abnormally folded helix	7204	TRIO	OMIM:617061
HP:0008544	Abnormally folded helix	23556	PIGN	ORPHA:280633
HP:0008544	Abnormally folded helix	23556	PIGN	OMIM:614080
HP:0008544	Abnormally folded helix	3199	HOXA2	OMIM:612290
HP:0008544	Abnormally folded helix	203068	TUBB	OMIM:156610
HP:0008544	Abnormally folded helix	55617	TASP1	OMIM:618950
HP:0008544	Abnormally folded helix	91179	SCARF2	OMIM:600920
HP:0008544	Abnormally folded helix	51339	DACT1	OMIM:617466
HP:0008544	Abnormally folded helix	51339	DACT1	ORPHA:857
HP:0008544	Abnormally folded helix	53335	BCL11A	OMIM:617101
HP:0008544	Abnormally folded helix	2782	GNB1	ORPHA:488613
HP:0008544	Abnormally folded helix	2782	GNB1	OMIM:616973
HP:0008544	Abnormally folded helix	5500	PPP1CB	OMIM:617506
HP:0008544	Abnormally folded helix	7291	TWIST1	OMIM:617746
HP:0008544	Abnormally folded helix	10982	MAPRE2	OMIM:616734
HP:0008544	Abnormally folded helix	6299	SALL1	ORPHA:857
HP:0008544	Abnormally folded helix	55636	CHD7	ORPHA:138
HP:0008544	Abnormally folded helix	9723	SEMA3E	ORPHA:138
HP:0008544	Abnormally folded helix	139285	AMER1	OMIM:300373
HP:0008544	Abnormally folded helix	2535	FZD2	OMIM:164745
HP:0008544	Abnormally folded helix	55252	ASXL2	OMIM:617190
HP:0008544	Abnormally folded helix	1376	CPT2	OMIM:608836
HP:0008544	Abnormally folded helix	4784	NFIX	OMIM:602535
HP:0008544	Abnormally folded helix	4677	NARS1	OMIM:619092
HP:0008544	Abnormally folded helix	9487	PIGL	OMIM:280000
HP:0008544	Abnormally folded helix	727857	BHLHA9	ORPHA:3329
HP:0008544	Abnormally folded helix	738	VPS51	OMIM:618606
HP:0008544	Abnormally folded helix	93986	FOXP2	ORPHA:209908
HP:0008544	Abnormally folded helix	284058	KANSL1	OMIM:610443
HP:0008544	Abnormally folded helix	1147	CHUK	OMIM:619339
HP:0008544	Abnormally folded helix	29920	PYCR2	ORPHA:481152
HP:0008544	Abnormally folded helix	3339	HSPG2	OMIM:255800
HP:0008544	Abnormally folded helix	3339	HSPG2	ORPHA:800
HP:0008544	Abnormally folded helix	1312	COMT	ORPHA:567
HP:0008544	Abnormally folded helix	221037	JMJD1C	ORPHA:567
HP:0008544	Abnormally folded helix	2812	GP1BB	ORPHA:567
HP:0008544	Abnormally folded helix	6239	RREB1	ORPHA:567
HP:0008544	Abnormally folded helix	6899	TBX1	ORPHA:567
HP:0008544	Abnormally folded helix	7290	HIRA	ORPHA:567
HP:0008544	Abnormally folded helix	9632	SEC24C	ORPHA:567
HP:0008544	Abnormally folded helix	7353	UFD1	ORPHA:567
HP:0008544	Abnormally folded helix	421	ARVCF	ORPHA:567
HP:0008544	Abnormally folded helix	7020	TFAP2A	OMIM:113620
HP:0008544	Abnormally folded helix	1387	CREBBP	OMIM:618332
HP:0008544	Abnormally folded helix	1193	CLIC2	ORPHA:324410
HP:0008544	Abnormally folded helix	1656	DDX6	OMIM:618653
HP:0008544	Abnormally folded helix	27161	AGO2	OMIM:619149
HP:0008544	Abnormally folded helix	8621	CDK13	OMIM:617360
HP:0008544	Abnormally folded helix	5277	PIGA	OMIM:300868
HP:0008544	Abnormally folded helix	7043	TGFB3	OMIM:615582
HP:0008544	Abnormally folded helix	867	CBL	OMIM:613563
HP:0008544	Abnormally folded helix	55012	PPP2R3C	OMIM:618419
HP:0008544	Abnormally folded helix	6929	TCF3	OMIM:619824
HP:0008544	Abnormally folded helix	9343	EFTUD2	OMIM:610536
HP:0008544	Abnormally folded helix	9343	EFTUD2	ORPHA:79113
HP:0008544	Abnormally folded helix	158326	FREM1	OMIM:608980
HP:0008544	Abnormally folded helix	58499	ZNF462	OMIM:618619
HP:0008544	Abnormally folded helix	9361	LONP1	ORPHA:1458
HP:0008544	Abnormally folded helix	5332	PLCB4	OMIM:614669
HP:0008544	Abnormally folded helix	2263	FGFR2	ORPHA:313855
HP:0008544	Abnormally folded helix	29998	BICRA	OMIM:619325
HP:0008544	Abnormally folded helix	2773	GNAI3	OMIM:602483
HP:0008544	Abnormally folded helix	9968	MED12	OMIM:309520
HP:0008544	Abnormally folded helix	2201	FBN2	ORPHA:115
HP:0008544	Abnormally folded helix	2335	FN1	ORPHA:93315
HP:0008544	Abnormally folded helix	1280	COL2A1	ORPHA:93315
HP:0008544	Abnormally folded helix	79005	SCNM1	OMIM:620107
HP:0008544	Abnormally folded helix	9772	TMEM94	OMIM:618316
HP:0008544	Abnormally folded helix	6535	SLC6A8	OMIM:300352
HP:0008544	Abnormally folded helix	6567	SLC16A2	OMIM:300523
HP:0001384	Abnormal hip joint morphology	9361	LONP1	OMIM:600373
HP:0001384	Abnormal hip joint morphology	9361	LONP1	ORPHA:1458
HP:0001384	Abnormal hip joint morphology	6261	RYR1	ORPHA:597
HP:0001384	Abnormal hip joint morphology	6261	RYR1	OMIM:117000
HP:0001384	Abnormal hip joint morphology	64840	PORCN	OMIM:305600
HP:0001384	Abnormal hip joint morphology	6628	SNRPB	OMIM:117650
HP:0001384	Abnormal hip joint morphology	9759	HDAC4	OMIM:619797
HP:0001384	Abnormal hip joint morphology	5351	PLOD1	OMIM:225400
HP:0001384	Abnormal hip joint morphology	134218	DNAJC21	OMIM:617052
HP:0001384	Abnormal hip joint morphology	1182	CLCN3	OMIM:619512
HP:0001384	Abnormal hip joint morphology	63895	PIEZO2	OMIM:114300
HP:0001384	Abnormal hip joint morphology	2138	EYA1	OMIM:113650
HP:0001384	Abnormal hip joint morphology	6495	SIX1	OMIM:113650
HP:0001384	Abnormal hip joint morphology	84627	ZNF469	OMIM:229200
HP:0001384	Abnormal hip joint morphology	55699	IARS2	OMIM:616007
HP:0001384	Abnormal hip joint morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001384	Abnormal hip joint morphology	7531	YWHAE	ORPHA:217385
HP:0001384	Abnormal hip joint morphology	6885	MAP3K7	OMIM:617137
HP:0001384	Abnormal hip joint morphology	9820	CUL7	ORPHA:2616
HP:0001384	Abnormal hip joint morphology	23363	OBSL1	ORPHA:2616
HP:0001384	Abnormal hip joint morphology	83987	CCDC8	ORPHA:2616
HP:0001384	Abnormal hip joint morphology	8239	USP9X	ORPHA:480880
HP:0001384	Abnormal hip joint morphology	8195	MKKS	OMIM:236700
HP:0001384	Abnormal hip joint morphology	1131	CHRM3	ORPHA:2970
HP:0001384	Abnormal hip joint morphology	1131	CHRM3	OMIM:100100
HP:0001384	Abnormal hip joint morphology	10060	ABCC9	OMIM:619719
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	OMIM:219200
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	OMIM:278250
HP:0001384	Abnormal hip joint morphology	9401	RECQL4	OMIM:268400
HP:0001384	Abnormal hip joint morphology	89910	UBE3B	OMIM:244450
HP:0001384	Abnormal hip joint morphology	1723	DHODH	OMIM:263750
HP:0001384	Abnormal hip joint morphology	60482	SLC5A7	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	4649	MYO9A	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	1305	COL13A1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	1103	CHAT	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6576	SLC25A1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6843	VAMP1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	375790	AGRN	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	127833	SYT2	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6572	SLC18A3	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6616	SNAP25	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	5832	ALDH18A1	OMIM:219150
HP:0001384	Abnormal hip joint morphology	55768	NGLY1	ORPHA:404454
HP:0001384	Abnormal hip joint morphology	2316	FLNA	OMIM:304120
HP:0001384	Abnormal hip joint morphology	2273	FHL1	OMIM:300280
HP:0001384	Abnormal hip joint morphology	7169	TPM2	OMIM:108120
HP:0001384	Abnormal hip joint morphology	7169	TPM2	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	6904	TBCD	ORPHA:496641
HP:0001384	Abnormal hip joint morphology	7547	ZIC3	OMIM:306955
HP:0001384	Abnormal hip joint morphology	3835	KIF22	OMIM:603546
HP:0001384	Abnormal hip joint morphology	2239	GPC4	ORPHA:373
HP:0001384	Abnormal hip joint morphology	2719	GPC3	ORPHA:373
HP:0001384	Abnormal hip joint morphology	7476	WNT7A	OMIM:228930
HP:0001384	Abnormal hip joint morphology	1290	COL5A2	OMIM:130010
HP:0001384	Abnormal hip joint morphology	523	ATP6V1A	ORPHA:357074
HP:0001384	Abnormal hip joint morphology	529	ATP6V1E1	ORPHA:357074
HP:0001384	Abnormal hip joint morphology	5528	PPP2R5D	ORPHA:457279
HP:0001384	Abnormal hip joint morphology	5528	PPP2R5D	OMIM:616355
HP:0001384	Abnormal hip joint morphology	8260	NAA10	OMIM:300855
HP:0001384	Abnormal hip joint morphology	50814	NSDHL	OMIM:308050
HP:0001384	Abnormal hip joint morphology	23522	KAT6B	OMIM:606170
HP:0001384	Abnormal hip joint morphology	5831	PYCR1	OMIM:612940
HP:0001384	Abnormal hip joint morphology	50628	GEMIN4	OMIM:617913
HP:0001384	Abnormal hip joint morphology	3339	HSPG2	OMIM:255800
HP:0001384	Abnormal hip joint morphology	6913	TBX15	ORPHA:93333
HP:0001384	Abnormal hip joint morphology	9896	FIG4	OMIM:216340
HP:0001384	Abnormal hip joint morphology	23299	BICD2	OMIM:618291
HP:0001384	Abnormal hip joint morphology	22827	PUF60	ORPHA:508488
HP:0001384	Abnormal hip joint morphology	1281	COL3A1	ORPHA:286
HP:0001384	Abnormal hip joint morphology	57190	SELENON	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	58	ACTA1	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	4633	MYL2	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	3679	ITGA7	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	9200	HACD1	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	7170	TPM3	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	7170	TPM3	OMIM:255310
HP:0001384	Abnormal hip joint morphology	51776	MAP3K20	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	51651	PTRH2	ORPHA:456312
HP:0001384	Abnormal hip joint morphology	9427	ECEL1	OMIM:615065
HP:0001384	Abnormal hip joint morphology	7067	THRA	OMIM:614450
HP:0001384	Abnormal hip joint morphology	8085	KMT2D	OMIM:147920
HP:0001384	Abnormal hip joint morphology	7403	KDM6A	OMIM:147920
HP:0001384	Abnormal hip joint morphology	8838	CCN6	ORPHA:1159
HP:0001384	Abnormal hip joint morphology	6775	STAT4	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	3560	IL2RB	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	79722	ANKRD55	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	26191	PTPN22	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	919	CD247	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	3559	IL2RA	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	5771	PTPN2	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	1280	COL2A1	ORPHA:166011
HP:0001384	Abnormal hip joint morphology	1280	COL2A1	ORPHA:1856
HP:0001384	Abnormal hip joint morphology	5167	ENPP1	ORPHA:51608
HP:0001384	Abnormal hip joint morphology	368	ABCC6	ORPHA:51608
HP:0001384	Abnormal hip joint morphology	4148	MATN3	ORPHA:93311
HP:0001384	Abnormal hip joint morphology	1299	COL9A3	OMIM:600969
HP:0001384	Abnormal hip joint morphology	2737	GLI3	ORPHA:672
HP:0001384	Abnormal hip joint morphology	2737	GLI3	OMIM:146510
HP:0001384	Abnormal hip joint morphology	2737	GLI3	ORPHA:93322
HP:0001384	Abnormal hip joint morphology	55703	POLR3B	OMIM:614381
HP:0001384	Abnormal hip joint morphology	10262	SF3B4	OMIM:154400
HP:0001384	Abnormal hip joint morphology	1291	COL6A1	OMIM:254090
HP:0001384	Abnormal hip joint morphology	1291	COL6A1	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	1292	COL6A2	OMIM:254090
HP:0001384	Abnormal hip joint morphology	1292	COL6A2	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	1293	COL6A3	OMIM:254090
HP:0001384	Abnormal hip joint morphology	1293	COL6A3	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	56896	DPYSL5	OMIM:619435
HP:0001384	Abnormal hip joint morphology	579	NKX3-2	OMIM:613330
HP:0001384	Abnormal hip joint morphology	10054	UBA2	OMIM:619959
HP:0001384	Abnormal hip joint morphology	79796	ALG9	OMIM:608776
HP:0001384	Abnormal hip joint morphology	4784	NFIX	ORPHA:447980
HP:0001384	Abnormal hip joint morphology	6662	SOX9	ORPHA:140
HP:0001384	Abnormal hip joint morphology	6662	SOX9	OMIM:114290
HP:0001384	Abnormal hip joint morphology	4703	NEB	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	10324	KLHL41	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	56203	LMOD3	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	1073	CFL2	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	55784	MCTP2	ORPHA:1596
HP:0001384	Abnormal hip joint morphology	16	AARS1	OMIM:616339
HP:0001384	Abnormal hip joint morphology	51010	EXOSC3	OMIM:614678
HP:0001384	Abnormal hip joint morphology	1717	DHCR7	ORPHA:818
HP:0001384	Abnormal hip joint morphology	1717	DHCR7	OMIM:270400
HP:0001384	Abnormal hip joint morphology	9915	ARNT2	OMIM:615926
HP:0001384	Abnormal hip joint morphology	10225	CD96	OMIM:211750
HP:0001384	Abnormal hip joint morphology	4626	MYH8	ORPHA:3377
HP:0001384	Abnormal hip joint morphology	4626	MYH8	OMIM:158300
HP:0001384	Abnormal hip joint morphology	4952	OCRL	ORPHA:534
HP:0001384	Abnormal hip joint morphology	4952	OCRL	OMIM:309000
HP:0001384	Abnormal hip joint morphology	4038	LRP4	ORPHA:3258
HP:0001384	Abnormal hip joint morphology	324	APC	ORPHA:3258
HP:0001384	Abnormal hip joint morphology	2187	FANCB	ORPHA:3412
HP:0001384	Abnormal hip joint morphology	2187	FANCB	ORPHA:84
HP:0001384	Abnormal hip joint morphology	23499	MACF1	ORPHA:572013
HP:0001384	Abnormal hip joint morphology	387119	CEP85L	ORPHA:572013
HP:0001384	Abnormal hip joint morphology	29925	GMPPB	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	79147	FKRP	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	29954	POMT2	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	29954	POMT2	OMIM:613156
HP:0001384	Abnormal hip joint morphology	9215	LARGE1	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	10585	POMT1	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	1351	COX8A	OMIM:619059
HP:0001384	Abnormal hip joint morphology	2530	FUT8	OMIM:618005
HP:0001384	Abnormal hip joint morphology	4052	LTBP1	OMIM:619451
HP:0001384	Abnormal hip joint morphology	4052	LTBP1	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	3899	AFF3	OMIM:619297
HP:0001384	Abnormal hip joint morphology	165	AEBP1	OMIM:618000
HP:0001384	Abnormal hip joint morphology	165	AEBP1	ORPHA:536532
HP:0001384	Abnormal hip joint morphology	3572	IL6ST	OMIM:618523
HP:0001384	Abnormal hip joint morphology	29920	PYCR2	ORPHA:481152
HP:0001384	Abnormal hip joint morphology	672	BRCA1	ORPHA:84
HP:0001384	Abnormal hip joint morphology	10459	MAD2L2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	7516	XRCC2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	29089	UBE2T	ORPHA:84
HP:0001384	Abnormal hip joint morphology	675	BRCA2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55120	FANCL	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2177	FANCD2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2175	FANCA	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2176	FANCC	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2178	FANCE	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2188	FANCF	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2189	FANCG	ORPHA:84
HP:0001384	Abnormal hip joint morphology	5888	RAD51	ORPHA:84
HP:0001384	Abnormal hip joint morphology	5889	RAD51C	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55159	RFWD3	ORPHA:84
HP:0001384	Abnormal hip joint morphology	83990	BRIP1	ORPHA:84
HP:0001384	Abnormal hip joint morphology	57697	FANCM	ORPHA:84
HP:0001384	Abnormal hip joint morphology	79728	PALB2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	84464	SLX4	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2072	ERCC4	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55215	FANCI	ORPHA:84
HP:0001384	Abnormal hip joint morphology	6678	SPARC	OMIM:616507
HP:0001384	Abnormal hip joint morphology	9719	ADAMTSL2	ORPHA:1901
HP:0001384	Abnormal hip joint morphology	9509	ADAMTS2	ORPHA:1901
HP:0001384	Abnormal hip joint morphology	8200	GDF5	ORPHA:968
HP:0001384	Abnormal hip joint morphology	8200	GDF5	OMIM:201250
HP:0001384	Abnormal hip joint morphology	64093	SMOC1	ORPHA:1106
HP:0001384	Abnormal hip joint morphology	64093	SMOC1	OMIM:206920
HP:0001384	Abnormal hip joint morphology	25778	DSTYK	ORPHA:101003
HP:0001384	Abnormal hip joint morphology	1289	COL5A1	ORPHA:287
HP:0001384	Abnormal hip joint morphology	57531	HACE1	ORPHA:464282
HP:0001384	Abnormal hip joint morphology	57531	HACE1	OMIM:616756
HP:0001384	Abnormal hip joint morphology	2743	GLRB	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	2741	GLRA1	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	2741	GLRA1	OMIM:149400
HP:0001384	Abnormal hip joint morphology	10243	GPHN	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	10243	GPHN	OMIM:149400
HP:0001384	Abnormal hip joint morphology	84896	ATAD1	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	9152	SLC6A5	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	55697	VAC14	ORPHA:3472
HP:0001384	Abnormal hip joint morphology	860	RUNX2	OMIM:119600
HP:0001384	Abnormal hip joint morphology	22872	SEC31A	OMIM:618651
HP:0001384	Abnormal hip joint morphology	9451	EIF2AK3	OMIM:226980
HP:0001384	Abnormal hip joint morphology	10682	EBP	ORPHA:35173
HP:0001384	Abnormal hip joint morphology	545	ATR	OMIM:210600
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2260	FGFR1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2260	FGFR1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	23007	PLCH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	10735	STAG2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	10735	STAG2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	53834	FGFRL1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	1487	CTBP1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	3954	LETM1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	7468	NSD2	OMIM:194190
HP:0001384	Abnormal hip joint morphology	10815	CPLX1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	64374	SIL1	ORPHA:559
HP:0001384	Abnormal hip joint morphology	51763	INPP5K	ORPHA:559
HP:0001384	Abnormal hip joint morphology	9487	PIGL	ORPHA:3474
HP:0001384	Abnormal hip joint morphology	55644	OSGEP	OMIM:617729
HP:0001384	Abnormal hip joint morphology	2697	GJA1	OMIM:164200
HP:0001384	Abnormal hip joint morphology	2313	FLI1	ORPHA:2308
HP:0001384	Abnormal hip joint morphology	23476	BRD4	ORPHA:199
HP:0001384	Abnormal hip joint morphology	9126	SMC3	ORPHA:199
HP:0001384	Abnormal hip joint morphology	8243	SMC1A	ORPHA:199
HP:0001384	Abnormal hip joint morphology	8243	SMC1A	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	25836	NIPBL	ORPHA:199
HP:0001384	Abnormal hip joint morphology	55869	HDAC8	ORPHA:199
HP:0001384	Abnormal hip joint morphology	5885	RAD21	ORPHA:199
HP:0001384	Abnormal hip joint morphology	538	ATP7A	ORPHA:198
HP:0001384	Abnormal hip joint morphology	57003	CCDC47	OMIM:618268
HP:0001384	Abnormal hip joint morphology	85301	COL27A1	OMIM:615155
HP:0001384	Abnormal hip joint morphology	10526	IPO8	OMIM:619472
HP:0001384	Abnormal hip joint morphology	1857	DVL3	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	7474	WNT5A	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	1855	DVL1	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	2535	FZD2	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	1861	TOR1A	OMIM:618947
HP:0001384	Abnormal hip joint morphology	23233	EXOC6B	ORPHA:93359
HP:0001384	Abnormal hip joint morphology	23233	EXOC6B	OMIM:618395
HP:0001384	Abnormal hip joint morphology	3098	HK1	OMIM:618547
HP:0001384	Abnormal hip joint morphology	6608	SMO	OMIM:241800
HP:0001384	Abnormal hip joint morphology	81031	SLC2A10	ORPHA:3342
HP:0001384	Abnormal hip joint morphology	145258	GSC	OMIM:602471
HP:0001384	Abnormal hip joint morphology	5728	PTEN	ORPHA:744
HP:0001384	Abnormal hip joint morphology	207	AKT1	ORPHA:744
HP:0001384	Abnormal hip joint morphology	6558	SLC12A2	OMIM:619083
HP:0001384	Abnormal hip joint morphology	10269	ZMPSTE24	ORPHA:740
HP:0001384	Abnormal hip joint morphology	78989	COLEC11	OMIM:265050
HP:0001384	Abnormal hip joint morphology	78989	COLEC11	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	3251	HPRT1	OMIM:300322
HP:0001384	Abnormal hip joint morphology	51360	MBTPS2	OMIM:308205
HP:0001384	Abnormal hip joint morphology	7140	TNNT3	OMIM:618435
HP:0001384	Abnormal hip joint morphology	113246	C12orf57	OMIM:218340
HP:0001384	Abnormal hip joint morphology	3187	HNRNPH1	OMIM:620083
HP:0001384	Abnormal hip joint morphology	7030	TFE3	OMIM:301066
HP:0001384	Abnormal hip joint morphology	2006	ELN	ORPHA:90348
HP:0001384	Abnormal hip joint morphology	10516	FBLN5	ORPHA:90348
HP:0001384	Abnormal hip joint morphology	10516	FBLN5	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	30008	EFEMP2	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	284058	KANSL1	OMIM:610443
HP:0001384	Abnormal hip joint morphology	92344	GORAB	ORPHA:2078
HP:0001384	Abnormal hip joint morphology	10584	COLEC10	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	5648	MASP1	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	9939	RBM8A	ORPHA:3320
HP:0001384	Abnormal hip joint morphology	9939	RBM8A	OMIM:274000
HP:0001384	Abnormal hip joint morphology	9469	CHST3	OMIM:245600
HP:0001384	Abnormal hip joint morphology	26229	B3GAT3	OMIM:245600
HP:0001384	Abnormal hip joint morphology	81603	TRIM8	OMIM:619428
HP:0001384	Abnormal hip joint morphology	79848	CSPP1	ORPHA:397715
HP:0001384	Abnormal hip joint morphology	9786	KIAA0586	ORPHA:397715
HP:0001384	Abnormal hip joint morphology	91147	TMEM67	ORPHA:140976
HP:0001384	Abnormal hip joint morphology	3373	HYAL1	ORPHA:67041
HP:0001384	Abnormal hip joint morphology	60561	RINT1	OMIM:618641
HP:0001384	Abnormal hip joint morphology	4088	SMAD3	ORPHA:284984
HP:0001384	Abnormal hip joint morphology	4088	SMAD3	OMIM:613795
HP:0001384	Abnormal hip joint morphology	2200	FBN1	OMIM:154700
HP:0001384	Abnormal hip joint morphology	5176	SERPINF1	OMIM:613982
HP:0001384	Abnormal hip joint morphology	10491	CRTAP	OMIM:610682
HP:0001384	Abnormal hip joint morphology	7048	TGFBR2	OMIM:610168
HP:0001384	Abnormal hip joint morphology	7042	TGFB2	OMIM:614816
HP:0001384	Abnormal hip joint morphology	60681	FKBP10	OMIM:259450
HP:0001384	Abnormal hip joint morphology	60681	FKBP10	OMIM:610968
HP:0001384	Abnormal hip joint morphology	1277	COL1A1	OMIM:259420
HP:0001384	Abnormal hip joint morphology	1278	COL1A2	OMIM:259420
HP:0001384	Abnormal hip joint morphology	4313	MMP2	OMIM:259600
HP:0001384	Abnormal hip joint morphology	153241	CEP120	OMIM:616300
HP:0001384	Abnormal hip joint morphology	1108	CHD4	OMIM:617159
HP:0001384	Abnormal hip joint morphology	54187	NANS	OMIM:610442
HP:0001384	Abnormal hip joint morphology	64131	XYLT1	OMIM:615777
HP:0001384	Abnormal hip joint morphology	124583	CANT1	OMIM:617719
HP:0001384	Abnormal hip joint morphology	124583	CANT1	OMIM:251450
HP:0001384	Abnormal hip joint morphology	2317	FLNB	OMIM:108721
HP:0001384	Abnormal hip joint morphology	57539	WDR35	OMIM:614091
HP:0001384	Abnormal hip joint morphology	3636	INPPL1	OMIM:258480
HP:0001384	Abnormal hip joint morphology	633	BGN	OMIM:300106
HP:0001384	Abnormal hip joint morphology	26175	LYSET	OMIM:619345
HP:0001384	Abnormal hip joint morphology	9321	TRIP11	OMIM:184260
HP:0001384	Abnormal hip joint morphology	83452	RAB33B	OMIM:615222
HP:0001384	Abnormal hip joint morphology	51098	IFT52	OMIM:617102
HP:0001384	Abnormal hip joint morphology	55790	CSGALNACT1	OMIM:618870
HP:0001384	Abnormal hip joint morphology	51025	PAM16	OMIM:613320
HP:0001384	Abnormal hip joint morphology	23169	SLC35D1	OMIM:269250
HP:0001384	Abnormal hip joint morphology	2879	GPX4	OMIM:250220
HP:0001384	Abnormal hip joint morphology	64135	IFIH1	OMIM:182250
HP:0001384	Abnormal hip joint morphology	55325	UFSP2	OMIM:142669
HP:0001384	Abnormal hip joint morphology	9496	TBX4	ORPHA:261279
HP:0001384	Abnormal hip joint morphology	51715	RAB23	OMIM:201000
HP:0001384	Abnormal hip joint morphology	2623	GATA1	OMIM:190685
HP:0001384	Abnormal hip joint morphology	50485	SMARCAL1	ORPHA:1830
HP:0001384	Abnormal hip joint morphology	50485	SMARCAL1	OMIM:242900
HP:0001384	Abnormal hip joint morphology	3207	HOXA11	OMIM:605432
HP:0001384	Abnormal hip joint morphology	4796	TONSL	ORPHA:93357
HP:0001384	Abnormal hip joint morphology	9382	COG1	OMIM:611209
HP:0001384	Abnormal hip joint morphology	9653	HS2ST1	OMIM:619194
HP:0001384	Abnormal hip joint morphology	274	BIN1	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	10290	SPEG	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	10290	SPEG	OMIM:615959
HP:0001384	Abnormal hip joint morphology	7273	TTN	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	59341	TRPV4	OMIM:600175
HP:0001384	Abnormal hip joint morphology	55906	ZC4H2	OMIM:301041
HP:0001384	Abnormal hip joint morphology	4593	MUSK	OMIM:208150
HP:0001384	Abnormal hip joint morphology	29895	MYL11	OMIM:619110
HP:0001384	Abnormal hip joint morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001384	Abnormal hip joint morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001384	Abnormal hip joint morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001384	Abnormal hip joint morphology	9894	TELO2	ORPHA:488642
HP:0001384	Abnormal hip joint morphology	285175	UNC80	OMIM:616801
HP:0001384	Abnormal hip joint morphology	285175	UNC80	ORPHA:371364
HP:0001384	Abnormal hip joint morphology	259232	NALCN	ORPHA:371364
HP:0001384	Abnormal hip joint morphology	259232	NALCN	OMIM:616266
HP:0001384	Abnormal hip joint morphology	84992	PIGY	OMIM:616809
HP:0001384	Abnormal hip joint morphology	64324	NSD1	ORPHA:821
HP:0001384	Abnormal hip joint morphology	29072	SETD2	ORPHA:821
HP:0001384	Abnormal hip joint morphology	10297	APC2	ORPHA:821
HP:0001384	Abnormal hip joint morphology	11160	ERLIN2	ORPHA:209951
HP:0001384	Abnormal hip joint morphology	2617	GARS1	OMIM:619042
HP:0001384	Abnormal hip joint morphology	26137	ZBTB20	OMIM:259050
HP:0001384	Abnormal hip joint morphology	26137	ZBTB20	ORPHA:3042
HP:0001384	Abnormal hip joint morphology	6536	SLC6A9	OMIM:617301
HP:0001384	Abnormal hip joint morphology	163175	LGI4	OMIM:617468
HP:0001384	Abnormal hip joint morphology	2201	FBN2	OMIM:121050
HP:0001384	Abnormal hip joint morphology	4773	NFATC2	OMIM:620232
HP:0001384	Abnormal hip joint morphology	1161	ERCC8	OMIM:216400
HP:0001384	Abnormal hip joint morphology	87178	PNPT1	ORPHA:319514
HP:0001384	Abnormal hip joint morphology	79158	GNPTAB	ORPHA:576
HP:0001384	Abnormal hip joint morphology	4621	MYH3	OMIM:178110
HP:0001384	Abnormal hip joint morphology	4621	MYH3	OMIM:193700
HP:0001384	Abnormal hip joint morphology	5745	PTH1R	OMIM:156400
HP:0001384	Abnormal hip joint morphology	84068	SLC10A7	OMIM:618363
HP:0001384	Abnormal hip joint morphology	2157	F8	ORPHA:169805
HP:0001384	Abnormal hip joint morphology	7317	UBA1	ORPHA:1145
HP:0001384	Abnormal hip joint morphology	7138	TNNT1	ORPHA:98902
HP:0001384	Abnormal hip joint morphology	7138	TNNT1	OMIM:605355
HP:0001384	Abnormal hip joint morphology	5297	PI4KA	OMIM:619621
HP:0001384	Abnormal hip joint morphology	54681	P4HTM	OMIM:618493
HP:0001384	Abnormal hip joint morphology	5277	PIGA	OMIM:300868
HP:0001384	Abnormal hip joint morphology	6023	RMRP	OMIM:607095
HP:0001384	Abnormal hip joint morphology	2783	GNB2	OMIM:619503
HP:0001384	Abnormal hip joint morphology	4632	MYL1	OMIM:618414
HP:0001384	Abnormal hip joint morphology	4000	LMNA	OMIM:613205
HP:0001384	Abnormal hip joint morphology	54808	DYM	OMIM:607326
HP:0001384	Abnormal hip joint morphology	54808	DYM	ORPHA:239
HP:0001384	Abnormal hip joint morphology	3911	LAMA5	OMIM:620076
HP:0001384	Abnormal hip joint morphology	411	ARSB	OMIM:253200
HP:0001384	Abnormal hip joint morphology	1303	COL12A1	ORPHA:536516
HP:0001384	Abnormal hip joint morphology	57477	SHROOM4	ORPHA:85288
HP:0001384	Abnormal hip joint morphology	2192	FBLN1	ORPHA:404451
HP:0001384	Abnormal hip joint morphology	8218	CLTCL1	ORPHA:453510
HP:0001384	Abnormal hip joint morphology	1311	COMP	ORPHA:750
HP:0001384	Abnormal hip joint morphology	2137	EXTL3	ORPHA:508533
HP:0001384	Abnormal hip joint morphology	1146	CHRNG	OMIM:265000
HP:0001384	Abnormal hip joint morphology	10717	AP4B1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	10717	AP4B1	OMIM:614066
HP:0001384	Abnormal hip joint morphology	9179	AP4M1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	11154	AP4S1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	23431	AP4E1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	126792	B3GALT6	ORPHA:536467
HP:0001384	Abnormal hip joint morphology	29928	TIMM22	OMIM:618851
HP:0001384	Abnormal hip joint morphology	6210	RPS15A	OMIM:618313
HP:0001384	Abnormal hip joint morphology	9775	EIF4A3	OMIM:268305
HP:0001384	Abnormal hip joint morphology	25885	POLR1A	OMIM:616462
HP:0001384	Abnormal hip joint morphology	1836	SLC26A2	ORPHA:93307
HP:0001384	Abnormal hip joint morphology	2990	GUSB	OMIM:253220
HP:0001384	Abnormal hip joint morphology	23443	SLC35A3	OMIM:615553
HP:0001384	Abnormal hip joint morphology	65082	VPS33A	OMIM:617303
HP:0001384	Abnormal hip joint morphology	84700	MYO18B	OMIM:616549
HP:0001384	Abnormal hip joint morphology	55681	SCYL2	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	84570	COL25A1	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	57222	ERGIC1	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	4897	NRCAM	OMIM:619833
HP:0001384	Abnormal hip joint morphology	2720	GLB1	ORPHA:79255
HP:0001384	Abnormal hip joint morphology	8546	AP3B1	OMIM:608233
HP:0001384	Abnormal hip joint morphology	1300	COL10A1	OMIM:156500
HP:0001384	Abnormal hip joint morphology	153642	ARSK	OMIM:619698
HP:0001384	Abnormal hip joint morphology	57728	WDR19	OMIM:614376
HP:0001384	Abnormal hip joint morphology	79659	DYNC2H1	OMIM:613091
HP:0001384	Abnormal hip joint morphology	55112	DYNC2I1	OMIM:615503
HP:0001384	Abnormal hip joint morphology	255758	DYNLT2B	OMIM:617405
HP:0001384	Abnormal hip joint morphology	2121	EVC	OMIM:225500
HP:0001384	Abnormal hip joint morphology	132884	EVC2	OMIM:225500
HP:0001384	Abnormal hip joint morphology	55835	CENPJ	OMIM:613676
HP:0001384	Abnormal hip joint morphology	2263	FGFR2	ORPHA:313855
HP:0001384	Abnormal hip joint morphology	2067	ERCC1	OMIM:610758
HP:0001384	Abnormal hip joint morphology	4921	DDR2	OMIM:271665
HP:0001384	Abnormal hip joint morphology	57187	THOC2	OMIM:300957
HP:0001384	Abnormal hip joint morphology	7355	SLC35A2	ORPHA:356961
HP:0001384	Abnormal hip joint morphology	55628	ZNF407	OMIM:619557
HP:0001384	Abnormal hip joint morphology	51608	GET4	OMIM:620200
HP:0001384	Abnormal hip joint morphology	28962	OSTM1	OMIM:259720
HP:0001384	Abnormal hip joint morphology	27125	AFF4	ORPHA:444077
HP:0001384	Abnormal hip joint morphology	84823	LMNB2	OMIM:619180
HP:0001384	Abnormal hip joint morphology	51112	TRAPPC12	ORPHA:500144
HP:0001384	Abnormal hip joint morphology	29998	BICRA	OMIM:619325
HP:0001384	Abnormal hip joint morphology	25871	NEPRO	OMIM:618853
HP:0001384	Abnormal hip joint morphology	79633	FAT4	OMIM:615546
HP:0001384	Abnormal hip joint morphology	2131	EXT1	ORPHA:321
HP:0001384	Abnormal hip joint morphology	2132	EXT2	ORPHA:321
HP:0001384	Abnormal hip joint morphology	26123	TCTN3	OMIM:614815
HP:0001384	Abnormal hip joint morphology	9851	KIAA0753	OMIM:619479
HP:0001384	Abnormal hip joint morphology	2261	FGFR3	ORPHA:15
HP:0001385	Hip dysplasia	57190	SELENON	ORPHA:324604
HP:0001385	Hip dysplasia	4625	MYH7	ORPHA:324604
HP:0001385	Hip dysplasia	7273	TTN	ORPHA:324604
HP:0001385	Hip dysplasia	8243	SMC1A	OMIM:301044
HP:0001385	Hip dysplasia	8243	SMC1A	ORPHA:199
HP:0001385	Hip dysplasia	56896	DPYSL5	OMIM:619435
HP:0001385	Hip dysplasia	10054	UBA2	OMIM:619959
HP:0001385	Hip dysplasia	1280	COL2A1	ORPHA:93316
HP:0001385	Hip dysplasia	1280	COL2A1	ORPHA:1856
HP:0001385	Hip dysplasia	1280	COL2A1	ORPHA:166011
HP:0001385	Hip dysplasia	60684	TRAPPC11	OMIM:615356
HP:0001385	Hip dysplasia	4897	NRCAM	OMIM:619833
HP:0001385	Hip dysplasia	55777	MBD5	ORPHA:228402
HP:0001385	Hip dysplasia	55777	MBD5	OMIM:156200
HP:0001385	Hip dysplasia	7681	MKRN3	OMIM:176270
HP:0001385	Hip dysplasia	3653	IPW	OMIM:176270
HP:0001385	Hip dysplasia	54551	MAGEL2	OMIM:176270
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:177904
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:177901
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:398069
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:98754
HP:0001385	Hip dysplasia	791114	PWRN1	OMIM:176270
HP:0001385	Hip dysplasia	100033413	SNORD116-1	OMIM:176270
HP:0001385	Hip dysplasia	8924	HERC2	OMIM:176270
HP:0001385	Hip dysplasia	145624	PWAR1	OMIM:176270
HP:0001385	Hip dysplasia	23742	NPAP1	OMIM:176270
HP:0001385	Hip dysplasia	338433	SNORD115-1	OMIM:176270
HP:0001385	Hip dysplasia	4148	MATN3	ORPHA:93311
HP:0001385	Hip dysplasia	411	ARSB	OMIM:253200
HP:0001385	Hip dysplasia	3190	HNRNPK	ORPHA:453504
HP:0001385	Hip dysplasia	3190	HNRNPK	OMIM:616580
HP:0001385	Hip dysplasia	3190	HNRNPK	ORPHA:352665
HP:0001385	Hip dysplasia	4784	NFIX	ORPHA:447980
HP:0001385	Hip dysplasia	4784	NFIX	OMIM:602535
HP:0001385	Hip dysplasia	7372	UMPS	ORPHA:30
HP:0001385	Hip dysplasia	9496	TBX4	ORPHA:238578
HP:0001385	Hip dysplasia	9496	TBX4	ORPHA:1509
HP:0001385	Hip dysplasia	80232	WDR26	ORPHA:513456
HP:0001385	Hip dysplasia	10847	SRCAP	OMIM:136140
HP:0001385	Hip dysplasia	10847	SRCAP	ORPHA:2044
HP:0001385	Hip dysplasia	63895	PIEZO2	OMIM:617146
HP:0001385	Hip dysplasia	473	RERE	OMIM:616975
HP:0001385	Hip dysplasia	473	RERE	ORPHA:494344
HP:0001385	Hip dysplasia	473	RERE	ORPHA:1606
HP:0001385	Hip dysplasia	1836	SLC26A2	ORPHA:93307
HP:0001385	Hip dysplasia	1836	SLC26A2	OMIM:226900
HP:0001385	Hip dysplasia	1836	SLC26A2	ORPHA:628
HP:0001385	Hip dysplasia	478	ATP1A3	OMIM:619606
HP:0001385	Hip dysplasia	6492	SIM1	ORPHA:398079
HP:0001385	Hip dysplasia	2033	EP300	ORPHA:353284
HP:0001385	Hip dysplasia	3097	HIVEP2	OMIM:616977
HP:0001385	Hip dysplasia	1311	COMP	ORPHA:93308
HP:0001385	Hip dysplasia	23729	SHPK	ORPHA:440713
HP:0001385	Hip dysplasia	55768	NGLY1	ORPHA:404454
HP:0001385	Hip dysplasia	79158	GNPTAB	OMIM:252500
HP:0001385	Hip dysplasia	6595	SMARCA2	OMIM:619293
HP:0001385	Hip dysplasia	1300	COL10A1	ORPHA:174
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:177904
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:177901
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:98754
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:177904
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:177901
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:98754
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:177904
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:177901
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:98754
HP:0001385	Hip dysplasia	84992	PIGY	ORPHA:247262
HP:0001385	Hip dysplasia	84992	PIGY	OMIM:616809
HP:0001385	Hip dysplasia	84720	PIGO	ORPHA:247262
HP:0001385	Hip dysplasia	93210	PGAP3	ORPHA:247262
HP:0001385	Hip dysplasia	284098	PIGW	ORPHA:247262
HP:0001385	Hip dysplasia	27315	PGAP2	ORPHA:247262
HP:0001385	Hip dysplasia	55650	PIGV	ORPHA:247262
HP:0001385	Hip dysplasia	9487	PIGL	ORPHA:247262
HP:0001385	Hip dysplasia	153642	ARSK	OMIM:619698
HP:0001385	Hip dysplasia	10265	IRX5	OMIM:611174
HP:0001385	Hip dysplasia	8200	GDF5	ORPHA:63442
HP:0001385	Hip dysplasia	3423	IDS	ORPHA:217085
HP:0001385	Hip dysplasia	3423	IDS	ORPHA:217093
HP:0001385	Hip dysplasia	83987	CCDC8	OMIM:614205
HP:0001385	Hip dysplasia	9719	ADAMTSL2	ORPHA:1901
HP:0001385	Hip dysplasia	9509	ADAMTS2	ORPHA:1901
HP:0001385	Hip dysplasia	22827	PUF60	ORPHA:508488
HP:0001385	Hip dysplasia	55325	UFSP2	OMIM:142669
HP:0001385	Hip dysplasia	55325	UFSP2	ORPHA:2114
HP:0001385	Hip dysplasia	26276	VPS33B	OMIM:208085
HP:0001385	Hip dysplasia	11342	RNF13	OMIM:618379
HP:0001385	Hip dysplasia	11342	RNF13	ORPHA:544503
HP:0001385	Hip dysplasia	1822	ATN1	OMIM:618494
HP:0001385	Hip dysplasia	26040	SETBP1	OMIM:616078
HP:0001385	Hip dysplasia	2720	GLB1	OMIM:253010
HP:0001385	Hip dysplasia	57511	COG6	OMIM:614576
HP:0001385	Hip dysplasia	51199	NIN	OMIM:614851
HP:0001385	Hip dysplasia	51199	NIN	ORPHA:319675
HP:0001385	Hip dysplasia	55012	PPP2R3C	OMIM:618419
HP:0001385	Hip dysplasia	63894	VIPAS39	OMIM:613404
HP:0001385	Hip dysplasia	57187	THOC2	ORPHA:457240
HP:0001385	Hip dysplasia	53834	FGFRL1	OMIM:194190
HP:0001385	Hip dysplasia	1487	CTBP1	OMIM:194190
HP:0001385	Hip dysplasia	3954	LETM1	OMIM:194190
HP:0001385	Hip dysplasia	7468	NSD2	OMIM:194190
HP:0001385	Hip dysplasia	10815	CPLX1	OMIM:194190
HP:0001385	Hip dysplasia	64374	SIL1	ORPHA:559
HP:0001385	Hip dysplasia	51763	INPP5K	ORPHA:559
HP:0001385	Hip dysplasia	4000	LMNA	ORPHA:79474
HP:0001385	Hip dysplasia	23476	BRD4	ORPHA:199
HP:0001385	Hip dysplasia	9126	SMC3	ORPHA:199
HP:0001385	Hip dysplasia	25836	NIPBL	ORPHA:199
HP:0001385	Hip dysplasia	55869	HDAC8	ORPHA:199
HP:0001385	Hip dysplasia	5885	RAD21	ORPHA:199
HP:0001385	Hip dysplasia	50801	KCNK4	OMIM:618381
HP:0001385	Hip dysplasia	23299	BICD2	ORPHA:363454
HP:0001385	Hip dysplasia	23299	BICD2	OMIM:615290
HP:0001385	Hip dysplasia	538	ATP7A	ORPHA:198
HP:0001385	Hip dysplasia	5518	PPP2R1A	OMIM:616362
HP:0001385	Hip dysplasia	5518	PPP2R1A	ORPHA:457284
HP:0001385	Hip dysplasia	7874	USP7	ORPHA:500055
HP:0001385	Hip dysplasia	57003	CCDC47	OMIM:618268
HP:0001385	Hip dysplasia	10526	IPO8	OMIM:619472
HP:0001385	Hip dysplasia	1857	DVL3	ORPHA:3107
HP:0001385	Hip dysplasia	7474	WNT5A	ORPHA:3107
HP:0001385	Hip dysplasia	1855	DVL1	ORPHA:3107
HP:0001385	Hip dysplasia	2535	FZD2	ORPHA:3107
HP:0001385	Hip dysplasia	23233	EXOC6B	ORPHA:93359
HP:0001385	Hip dysplasia	126792	B3GALT6	ORPHA:93359
HP:0001385	Hip dysplasia	126792	B3GALT6	ORPHA:536467
HP:0001385	Hip dysplasia	126792	B3GALT6	OMIM:615349
HP:0001385	Hip dysplasia	8239	USP9X	ORPHA:480880
HP:0001385	Hip dysplasia	8239	USP9X	OMIM:300968
HP:0001385	Hip dysplasia	2122	MECOM	ORPHA:71289
HP:0001385	Hip dysplasia	3207	HOXA11	ORPHA:71289
HP:0001385	Hip dysplasia	5590	PRKCZ	ORPHA:1606
HP:0001385	Hip dysplasia	2563	GABRD	ORPHA:1606
HP:0001385	Hip dysplasia	23013	SPEN	ORPHA:1606
HP:0001385	Hip dysplasia	8510	MMP23B	ORPHA:1606
HP:0001385	Hip dysplasia	7798	LUZP1	ORPHA:1606
HP:0001385	Hip dysplasia	6497	SKI	ORPHA:1606
HP:0001385	Hip dysplasia	10630	PDPN	ORPHA:1606
HP:0001385	Hip dysplasia	3339	HSPG2	ORPHA:1606
HP:0001385	Hip dysplasia	3339	HSPG2	ORPHA:800
HP:0001385	Hip dysplasia	10277	UBE4B	ORPHA:1606
HP:0001385	Hip dysplasia	8514	KCNAB2	ORPHA:1606
HP:0001385	Hip dysplasia	63976	PRDM16	ORPHA:1606
HP:0001385	Hip dysplasia	54897	CASZ1	ORPHA:1606
HP:0001385	Hip dysplasia	81031	SLC2A10	ORPHA:3342
HP:0001385	Hip dysplasia	80036	TRPM3	OMIM:620224
HP:0001385	Hip dysplasia	2131	EXT1	ORPHA:502
HP:0001385	Hip dysplasia	7227	TRPS1	ORPHA:502
HP:0001385	Hip dysplasia	55027	HEATR3	OMIM:620072
HP:0001385	Hip dysplasia	10236	HNRNPR	OMIM:620073
HP:0001385	Hip dysplasia	55210	ATAD3A	ORPHA:496790
HP:0001385	Hip dysplasia	55210	ATAD3A	OMIM:617183
HP:0001385	Hip dysplasia	1298	COL9A2	OMIM:600204
HP:0001385	Hip dysplasia	26137	ZBTB20	OMIM:259050
HP:0001385	Hip dysplasia	8314	BAP1	OMIM:619762
HP:0001385	Hip dysplasia	6872	TAF1	OMIM:300966
HP:0001385	Hip dysplasia	285590	SH3PXD2B	OMIM:249420
HP:0001385	Hip dysplasia	54928	BPNT2	OMIM:614078
HP:0001385	Hip dysplasia	29123	ANKRD11	ORPHA:261250
HP:0001385	Hip dysplasia	4849	CNOT3	OMIM:618672
HP:0001385	Hip dysplasia	200424	TET3	OMIM:618798
HP:0001385	Hip dysplasia	1277	COL1A1	OMIM:166200
HP:0001385	Hip dysplasia	1277	COL1A1	ORPHA:1899
HP:0001385	Hip dysplasia	2799	GNS	OMIM:252940
HP:0001385	Hip dysplasia	10667	FARS2	ORPHA:466722
HP:0001385	Hip dysplasia	11128	POLR3A	ORPHA:3455
HP:0001385	Hip dysplasia	11107	PRDM5	ORPHA:90354
HP:0001385	Hip dysplasia	84627	ZNF469	ORPHA:90354
HP:0001385	Hip dysplasia	7030	TFE3	OMIM:301066
HP:0001385	Hip dysplasia	55898	UNC45A	OMIM:619377
HP:0001385	Hip dysplasia	9968	MED12	OMIM:300895
HP:0001385	Hip dysplasia	55023	PHIP	OMIM:617991
HP:0001385	Hip dysplasia	51780	KDM3B	OMIM:618846
HP:0001385	Hip dysplasia	2733	GLE1	OMIM:611890
HP:0001385	Hip dysplasia	1387	CREBBP	ORPHA:353277
HP:0001385	Hip dysplasia	1387	CREBBP	OMIM:618332
HP:0001385	Hip dysplasia	203190	LGI3	OMIM:620007
HP:0001385	Hip dysplasia	284058	KANSL1	OMIM:610443
HP:0001385	Hip dysplasia	545	ATR	ORPHA:808
HP:0001385	Hip dysplasia	1062	CENPE	ORPHA:808
HP:0001385	Hip dysplasia	5116	PCNT	ORPHA:808
HP:0001385	Hip dysplasia	5932	RBBP8	ORPHA:808
HP:0001385	Hip dysplasia	79902	NUP85	ORPHA:808
HP:0001385	Hip dysplasia	84126	ATRIP	ORPHA:808
HP:0001385	Hip dysplasia	55835	CENPJ	ORPHA:808
HP:0001385	Hip dysplasia	10293	TRAIP	ORPHA:808
HP:0001385	Hip dysplasia	22995	CEP152	ORPHA:808
HP:0001385	Hip dysplasia	10733	PLK4	ORPHA:808
HP:0001385	Hip dysplasia	5557	PRIM1	OMIM:620005
HP:0001385	Hip dysplasia	64432	MRPS25	OMIM:619025
HP:0001385	Hip dysplasia	57728	WDR19	OMIM:614378
HP:0001385	Hip dysplasia	523	ATP6V1A	OMIM:617403
HP:0001385	Hip dysplasia	529	ATP6V1E1	OMIM:617402
HP:0001385	Hip dysplasia	51053	GMNN	OMIM:616835
HP:0001385	Hip dysplasia	79628	SH3TC2	ORPHA:99949
HP:0001385	Hip dysplasia	1642	DDB1	OMIM:619426
HP:0001385	Hip dysplasia	55753	OGDHL	OMIM:619701
HP:0001385	Hip dysplasia	9230	RAB11B	OMIM:617807
HP:0001385	Hip dysplasia	59341	TRPV4	OMIM:181405
HP:0001385	Hip dysplasia	1278	COL1A2	ORPHA:1899
HP:0001385	Hip dysplasia	2737	GLI3	ORPHA:93322
HP:0001385	Hip dysplasia	8085	KMT2D	OMIM:147920
HP:0001385	Hip dysplasia	7403	KDM6A	OMIM:147920
HP:0001385	Hip dysplasia	4322	MMP13	ORPHA:2501
HP:0001385	Hip dysplasia	23443	SLC35A3	ORPHA:370943
HP:0001386	Joint swelling	9663	LPIN2	OMIM:609628
HP:0001386	Joint swelling	6399	TRAPPC2	ORPHA:93284
HP:0001386	Joint swelling	90268	OTULIN	OMIM:617099
HP:0001386	Joint swelling	144811	LACC1	ORPHA:85414
HP:0001386	Joint swelling	4282	MIF	ORPHA:85414
HP:0001386	Joint swelling	3123	HLA-DRB1	ORPHA:85414
HP:0001386	Joint swelling	3123	HLA-DRB1	ORPHA:797
HP:0001386	Joint swelling	3569	IL6	ORPHA:85414
HP:0001386	Joint swelling	30061	SLC40A1	ORPHA:139491
HP:0001386	Joint swelling	8838	CCN6	OMIM:208230
HP:0001386	Joint swelling	8838	CCN6	ORPHA:1159
HP:0001386	Joint swelling	540	ATP7B	ORPHA:905
HP:0001386	Joint swelling	3248	HPGD	ORPHA:1525
HP:0001386	Joint swelling	3248	HPGD	ORPHA:2796
HP:0001386	Joint swelling	7157	TP53	ORPHA:668
HP:0001386	Joint swelling	5925	RB1	ORPHA:668
HP:0001386	Joint swelling	11200	CHEK2	ORPHA:668
HP:0001386	Joint swelling	2243	FGA	ORPHA:98880
HP:0001386	Joint swelling	2244	FGB	ORPHA:98880
HP:0001386	Joint swelling	2266	FGG	ORPHA:98880
HP:0001386	Joint swelling	6775	STAT4	ORPHA:85408
HP:0001386	Joint swelling	3560	IL2RB	ORPHA:85408
HP:0001386	Joint swelling	79722	ANKRD55	ORPHA:85408
HP:0001386	Joint swelling	26191	PTPN22	ORPHA:85408
HP:0001386	Joint swelling	26191	PTPN22	OMIM:180300
HP:0001386	Joint swelling	919	CD247	ORPHA:85408
HP:0001386	Joint swelling	3559	IL2RA	ORPHA:85408
HP:0001386	Joint swelling	5771	PTPN2	ORPHA:85408
HP:0001386	Joint swelling	3106	HLA-B	ORPHA:29207
HP:0001386	Joint swelling	4210	MEFV	ORPHA:329967
HP:0001386	Joint swelling	7132	TNFRSF1A	ORPHA:329967
HP:0001386	Joint swelling	3557	IL1RN	OMIM:612852
HP:0001386	Joint swelling	4952	OCRL	ORPHA:534
HP:0001386	Joint swelling	427	ASAH1	ORPHA:333
HP:0001386	Joint swelling	427	ASAH1	OMIM:228000
HP:0001386	Joint swelling	54	ACP5	OMIM:607944
HP:0001386	Joint swelling	2157	F8	ORPHA:169805
HP:0001386	Joint swelling	2157	F8	ORPHA:169802
HP:0001386	Joint swelling	654	BMP6	ORPHA:465508
HP:0001386	Joint swelling	3077	HFE	ORPHA:465508
HP:0001386	Joint swelling	6583	SLC22A4	OMIM:180300
HP:0001386	Joint swelling	4261	CIITA	OMIM:180300
HP:0001386	Joint swelling	51744	CD244	OMIM:180300
HP:0001386	Joint swelling	4795	NFKBIL1	OMIM:180300
HP:0001386	Joint swelling	3586	IL10	OMIM:180300
HP:0001386	Joint swelling	64127	NOD2	ORPHA:90340
HP:0001386	Joint swelling	64127	NOD2	OMIM:186580
HP:0001386	Joint swelling	83550	GPR101	ORPHA:963
HP:0001386	Joint swelling	9049	AIP	ORPHA:963
HP:0001386	Joint swelling	6578	SLCO2A1	ORPHA:2796
HP:0001386	Joint swelling	3081	HGD	ORPHA:56
HP:0001386	Joint swelling	1277	COL1A1	ORPHA:287
HP:0001386	Joint swelling	1289	COL5A1	ORPHA:287
HP:0001386	Joint swelling	1290	COL5A2	ORPHA:287
HP:0001386	Joint swelling	6850	SYK	OMIM:619381
HP:0001386	Joint swelling	4921	DDR2	OMIM:618175
HP:0001386	Joint swelling	2783	GNB2	OMIM:619503
HP:0001386	Joint swelling	4982	TNFRSF11B	ORPHA:1416
HP:0001386	Joint swelling	56172	ANKH	ORPHA:1416
HP:0001386	Joint swelling	56244	BTNL2	ORPHA:797
HP:0000413	Atresia of the external auditory canal	23476	BRD4	ORPHA:199
HP:0000413	Atresia of the external auditory canal	9126	SMC3	ORPHA:199
HP:0000413	Atresia of the external auditory canal	8243	SMC1A	ORPHA:199
HP:0000413	Atresia of the external auditory canal	25836	NIPBL	ORPHA:199
HP:0000413	Atresia of the external auditory canal	55869	HDAC8	ORPHA:199
HP:0000413	Atresia of the external auditory canal	5885	RAD21	ORPHA:199
HP:0000413	Atresia of the external auditory canal	2737	GLI3	ORPHA:672
HP:0000413	Atresia of the external auditory canal	2737	GLI3	OMIM:146510
HP:0000413	Atresia of the external auditory canal	10194	TSHZ1	OMIM:607842
HP:0000413	Atresia of the external auditory canal	341640	FREM2	ORPHA:2052
HP:0000413	Atresia of the external auditory canal	341640	FREM2	OMIM:617666
HP:0000413	Atresia of the external auditory canal	80144	FRAS1	ORPHA:2052
HP:0000413	Atresia of the external auditory canal	80144	FRAS1	OMIM:219000
HP:0000413	Atresia of the external auditory canal	23426	GRIP1	ORPHA:2052
HP:0000413	Atresia of the external auditory canal	10262	SF3B4	OMIM:154400
HP:0000413	Atresia of the external auditory canal	10262	SF3B4	ORPHA:245
HP:0000413	Atresia of the external auditory canal	6135	RPL11	OMIM:612562
HP:0000413	Atresia of the external auditory canal	6154	RPL26	OMIM:614900
HP:0000413	Atresia of the external auditory canal	10992	SF3B2	OMIM:164210
HP:0000413	Atresia of the external auditory canal	8085	KMT2D	OMIM:620186
HP:0000413	Atresia of the external auditory canal	2263	FGFR2	OMIM:123500
HP:0000413	Atresia of the external auditory canal	2263	FGFR2	OMIM:123790
HP:0000413	Atresia of the external auditory canal	2263	FGFR2	ORPHA:93259
HP:0000413	Atresia of the external auditory canal	526	ATP6V1B2	ORPHA:79500
HP:0000413	Atresia of the external auditory canal	57465	TBC1D24	ORPHA:79500
HP:0000413	Atresia of the external auditory canal	2138	EYA1	ORPHA:107
HP:0000413	Atresia of the external auditory canal	2138	EYA1	ORPHA:52429
HP:0000413	Atresia of the external auditory canal	2138	EYA1	ORPHA:2792
HP:0000413	Atresia of the external auditory canal	147912	SIX5	ORPHA:107
HP:0000413	Atresia of the external auditory canal	6495	SIX1	ORPHA:107
HP:0000413	Atresia of the external auditory canal	6495	SIX1	ORPHA:52429
HP:0000413	Atresia of the external auditory canal	145258	GSC	OMIM:602471
HP:0000413	Atresia of the external auditory canal	6628	SNRPB	ORPHA:1393
HP:0000413	Atresia of the external auditory canal	3199	HOXA2	ORPHA:83463
HP:0000413	Atresia of the external auditory canal	114928	GPRASP2	OMIM:301018
HP:0000413	Atresia of the external auditory canal	117581	TWIST2	ORPHA:1231
HP:0000413	Atresia of the external auditory canal	117581	TWIST2	ORPHA:920
HP:0000413	Atresia of the external auditory canal	6231	RPS26	OMIM:613309
HP:0000413	Atresia of the external auditory canal	29954	POMT2	OMIM:236670
HP:0000413	Atresia of the external auditory canal	9215	LARGE1	OMIM:236670
HP:0000413	Atresia of the external auditory canal	79147	FKRP	OMIM:236670
HP:0000413	Atresia of the external auditory canal	10585	POMT1	OMIM:236670
HP:0000413	Atresia of the external auditory canal	2218	FKTN	OMIM:236670
HP:0000413	Atresia of the external auditory canal	8626	TP63	OMIM:106260
HP:0000413	Atresia of the external auditory canal	10735	STAG2	OMIM:301022
HP:0000413	Atresia of the external auditory canal	4998	ORC1	OMIM:224690
HP:0000413	Atresia of the external auditory canal	4998	ORC1	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	6949	TCOF1	OMIM:154500
HP:0000413	Atresia of the external auditory canal	5075	PAX1	ORPHA:2792
HP:0000413	Atresia of the external auditory canal	81620	CDT1	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	5000	ORC4	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	23594	ORC6	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	8318	CDC45	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	990	CDC6	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	51053	GMNN	ORPHA:2554
HP:0000413	Atresia of the external auditory canal	23347	SMCHD1	OMIM:603457
HP:0000413	Atresia of the external auditory canal	90121	TSR2	OMIM:300946
HP:0000413	Atresia of the external auditory canal	4921	DDR2	OMIM:618175
HP:0000413	Atresia of the external auditory canal	56992	KIF15	OMIM:619981
HP:0000413	Atresia of the external auditory canal	4854	NOTCH3	ORPHA:2789
HP:0000413	Atresia of the external auditory canal	79633	FAT4	OMIM:615546
HP:0000413	Atresia of the external auditory canal	2065	ERBB3	OMIM:243180
HP:0000413	Atresia of the external auditory canal	8642	DCHS1	OMIM:601390
HP:0000413	Atresia of the external auditory canal	9343	EFTUD2	OMIM:610536
HP:0000413	Atresia of the external auditory canal	9343	EFTUD2	ORPHA:79113
HP:0031993	Hoffmann sign	51308	REEP2	OMIM:615625
HP:0031993	Hoffmann sign	11261	CHP1	OMIM:618438
HP:0031993	Hoffmann sign	2581	GALC	ORPHA:206448
HP:0031993	Hoffmann sign	587	BCAT2	OMIM:618850
HP:0031993	Hoffmann sign	5297	PI4KA	OMIM:619621
HP:0031993	Hoffmann sign	7345	UCHL1	OMIM:615491
HP:0031993	Hoffmann sign	215	ABCD1	ORPHA:139396
HP:0031993	Hoffmann sign	5832	ALDH18A1	OMIM:601162
HP:0034400	Circumferential skin creases on extremities	10982	MAPRE2	OMIM:616734
HP:0034400	Circumferential skin creases on extremities	203068	TUBB	OMIM:156610
HP:0008551	Microtia	5290	PIK3CA	ORPHA:276280
HP:0008551	Microtia	23394	ADNP	ORPHA:404448
HP:0008551	Microtia	23019	CNOT1	OMIM:618500
HP:0008551	Microtia	2138	EYA1	OMIM:113650
HP:0008551	Microtia	2138	EYA1	OMIM:602588
HP:0008551	Microtia	6495	SIX1	OMIM:113650
HP:0008551	Microtia	5339	PLEC	ORPHA:158684
HP:0008551	Microtia	5339	PLEC	OMIM:612138
HP:0008551	Microtia	3691	ITGB4	ORPHA:158684
HP:0008551	Microtia	2263	FGFR2	OMIM:149730
HP:0008551	Microtia	2263	FGFR2	OMIM:101400
HP:0008551	Microtia	2263	FGFR2	ORPHA:2363
HP:0008551	Microtia	2263	FGFR2	ORPHA:794
HP:0008551	Microtia	10992	SF3B2	OMIM:164210
HP:0008551	Microtia	2629	GBA1	OMIM:608013
HP:0008551	Microtia	51099	ABHD5	OMIM:275630
HP:0008551	Microtia	4784	NFIX	ORPHA:447980
HP:0008551	Microtia	3199	HOXA2	ORPHA:83463
HP:0008551	Microtia	3199	HOXA2	OMIM:612290
HP:0008551	Microtia	51506	UFC1	OMIM:618076
HP:0008551	Microtia	55788	LMBRD1	OMIM:277380
HP:0008551	Microtia	6595	SMARCA2	ORPHA:2728
HP:0008551	Microtia	55636	CHD7	ORPHA:138
HP:0008551	Microtia	55636	CHD7	OMIM:214800
HP:0008551	Microtia	9723	SEMA3E	ORPHA:138
HP:0008551	Microtia	9382	COG1	OMIM:611209
HP:0008551	Microtia	9382	COG1	ORPHA:263508
HP:0008551	Microtia	2188	FANCF	OMIM:603467
HP:0008551	Microtia	56992	KIF15	ORPHA:261323
HP:0008551	Microtia	57589	RIC1	OMIM:618761
HP:0008551	Microtia	3190	HNRNPK	OMIM:616580
HP:0008551	Microtia	9739	SETD1A	OMIM:619056
HP:0008551	Microtia	25885	POLR1A	OMIM:616462
HP:0008551	Microtia	80204	FBXO11	OMIM:618089
HP:0008551	Microtia	9469	CHST3	OMIM:143095
HP:0008551	Microtia	9469	CHST3	OMIM:245600
HP:0008551	Microtia	815	CAMK2A	OMIM:617798
HP:0008551	Microtia	284252	KCTD1	ORPHA:2036
HP:0008551	Microtia	284252	KCTD1	OMIM:181270
HP:0008551	Microtia	7020	TFAP2A	OMIM:113620
HP:0008551	Microtia	10815	CPLX1	ORPHA:280
HP:0008551	Microtia	54872	PIGG	ORPHA:280
HP:0008551	Microtia	7469	NELFA	ORPHA:280
HP:0008551	Microtia	1487	CTBP1	ORPHA:280
HP:0008551	Microtia	3954	LETM1	ORPHA:280
HP:0008551	Microtia	7468	NSD2	ORPHA:280
HP:0008551	Microtia	4174	MCM5	OMIM:617564
HP:0008551	Microtia	51199	NIN	OMIM:614851
HP:0008551	Microtia	51199	NIN	ORPHA:319675
HP:0008551	Microtia	7291	TWIST1	OMIM:101400
HP:0008551	Microtia	7291	TWIST1	ORPHA:794
HP:0008551	Microtia	7291	TWIST1	OMIM:617746
HP:0008551	Microtia	8642	DCHS1	OMIM:601390
HP:0008551	Microtia	8642	DCHS1	ORPHA:314679
HP:0008551	Microtia	175	AGA	ORPHA:93
HP:0008551	Microtia	8241	RBM10	OMIM:311900
HP:0008551	Microtia	6234	RPS28	OMIM:606164
HP:0008551	Microtia	6234	RPS28	ORPHA:124
HP:0008551	Microtia	26038	CHD5	OMIM:619873
HP:0008551	Microtia	79633	FAT4	OMIM:616006
HP:0008551	Microtia	79633	FAT4	ORPHA:314679
HP:0008551	Microtia	79633	FAT4	OMIM:615546
HP:0008551	Microtia	1909	EDNRA	OMIM:616367
HP:0008551	Microtia	5590	PRKCZ	ORPHA:1606
HP:0008551	Microtia	2563	GABRD	ORPHA:1606
HP:0008551	Microtia	23013	SPEN	ORPHA:1606
HP:0008551	Microtia	8510	MMP23B	ORPHA:1606
HP:0008551	Microtia	7798	LUZP1	ORPHA:1606
HP:0008551	Microtia	6497	SKI	ORPHA:1606
HP:0008551	Microtia	10630	PDPN	ORPHA:1606
HP:0008551	Microtia	3339	HSPG2	ORPHA:1606
HP:0008551	Microtia	10277	UBE4B	ORPHA:1606
HP:0008551	Microtia	8514	KCNAB2	ORPHA:1606
HP:0008551	Microtia	473	RERE	ORPHA:1606
HP:0008551	Microtia	63976	PRDM16	ORPHA:1606
HP:0008551	Microtia	54897	CASZ1	ORPHA:1606
HP:0008551	Microtia	8085	KMT2D	OMIM:620186
HP:0008551	Microtia	55719	SLF2	OMIM:620184
HP:0008551	Microtia	2255	FGF10	OMIM:620193
HP:0008551	Microtia	2255	FGF10	ORPHA:2363
HP:0008551	Microtia	2261	FGFR3	OMIM:620192
HP:0008551	Microtia	2261	FGFR3	ORPHA:2363
HP:0008551	Microtia	2261	FGFR3	ORPHA:794
HP:0008551	Microtia	4094	MAF	ORPHA:1272
HP:0008551	Microtia	4094	MAF	OMIM:601088
HP:0008551	Microtia	4089	SMAD4	OMIM:139210
HP:0008551	Microtia	7750	ZMYM2	OMIM:619522
HP:0008551	Microtia	51339	DACT1	OMIM:617466
HP:0008551	Microtia	51339	DACT1	ORPHA:857
HP:0008551	Microtia	81887	LAS1L	ORPHA:3459
HP:0008551	Microtia	55869	HDAC8	ORPHA:3459
HP:0008551	Microtia	5422	POLA1	ORPHA:163976
HP:0008551	Microtia	5422	POLA1	OMIM:301030
HP:0008551	Microtia	388015	RTL1	ORPHA:96334
HP:0008551	Microtia	8788	DLK1	ORPHA:96334
HP:0008551	Microtia	55384	MEG3	ORPHA:96334
HP:0008551	Microtia	6231	RPS26	OMIM:613309
HP:0008551	Microtia	6231	RPS26	ORPHA:124
HP:0008551	Microtia	55343	SLC35C1	ORPHA:99843
HP:0008551	Microtia	4123	MAN2C1	OMIM:619775
HP:0008551	Microtia	55120	FANCL	OMIM:614083
HP:0008551	Microtia	6949	TCOF1	OMIM:154500
HP:0008551	Microtia	6949	TCOF1	ORPHA:861
HP:0008551	Microtia	9652	SKIC3	OMIM:222470
HP:0008551	Microtia	546	ATRX	OMIM:309580
HP:0008551	Microtia	546	ATRX	OMIM:301040
HP:0008551	Microtia	729920	CRPPA	OMIM:614643
HP:0008551	Microtia	4488	MSX2	OMIM:168550
HP:0008551	Microtia	9896	FIG4	OMIM:216340
HP:0008551	Microtia	1723	DHODH	ORPHA:246
HP:0008551	Microtia	10262	SF3B4	ORPHA:245
HP:0008551	Microtia	10262	SF3B4	ORPHA:1788
HP:0008551	Microtia	6135	RPL11	ORPHA:124
HP:0008551	Microtia	6138	RPL15	ORPHA:124
HP:0008551	Microtia	6229	RPS24	ORPHA:124
HP:0008551	Microtia	6125	RPL5	ORPHA:124
HP:0008551	Microtia	6204	RPS10	ORPHA:124
HP:0008551	Microtia	6224	RPS20	ORPHA:124
HP:0008551	Microtia	6165	RPL35A	ORPHA:124
HP:0008551	Microtia	2623	GATA1	ORPHA:124
HP:0008551	Microtia	2623	GATA1	OMIM:190685
HP:0008551	Microtia	6223	RPS19	ORPHA:124
HP:0008551	Microtia	6232	RPS27	ORPHA:124
HP:0008551	Microtia	11224	RPL35	ORPHA:124
HP:0008551	Microtia	6160	RPL31	ORPHA:124
HP:0008551	Microtia	6218	RPS17	ORPHA:124
HP:0008551	Microtia	6201	RPS7	ORPHA:124
HP:0008551	Microtia	6155	RPL27	ORPHA:124
HP:0008551	Microtia	6154	RPL26	ORPHA:124
HP:0008551	Microtia	6210	RPS15A	ORPHA:124
HP:0008551	Microtia	90121	TSR2	ORPHA:124
HP:0008551	Microtia	90121	TSR2	OMIM:300946
HP:0008551	Microtia	6141	RPL18	ORPHA:124
HP:0008551	Microtia	6235	RPS29	ORPHA:124
HP:0008551	Microtia	51816	ADA2	ORPHA:124
HP:0008551	Microtia	54101	RIPK4	OMIM:263650
HP:0008551	Microtia	9533	POLR1C	OMIM:248390
HP:0008551	Microtia	9533	POLR1C	ORPHA:861
HP:0008551	Microtia	51025	PAM16	OMIM:613320
HP:0008551	Microtia	27152	INTU	OMIM:617925
HP:0008551	Microtia	5426	POLE	OMIM:618336
HP:0008551	Microtia	51053	GMNN	OMIM:616835
HP:0008551	Microtia	2737	GLI3	ORPHA:672
HP:0008551	Microtia	2737	GLI3	OMIM:146510
HP:0008551	Microtia	10735	STAG2	OMIM:301043
HP:0008551	Microtia	10735	STAG2	OMIM:301022
HP:0008551	Microtia	6477	SIAH1	OMIM:619314
HP:0008551	Microtia	100151683	RNU4ATAC	OMIM:210710
HP:0008551	Microtia	89970	RSPRY1	OMIM:616723
HP:0008551	Microtia	8626	TP63	OMIM:604292
HP:0008551	Microtia	7473	WNT3	ORPHA:3301
HP:0008551	Microtia	340419	RSPO2	ORPHA:3301
HP:0008551	Microtia	6299	SALL1	OMIM:107480
HP:0008551	Microtia	6299	SALL1	ORPHA:857
HP:0008551	Microtia	650	BMP2	ORPHA:261295
HP:0008551	Microtia	6492	SIM1	ORPHA:171829
HP:0008551	Microtia	3313	HSPA9	OMIM:616854
HP:0008551	Microtia	3097	HIVEP2	OMIM:616977
HP:0008551	Microtia	10982	MAPRE2	OMIM:616734
HP:0008551	Microtia	29954	POMT2	OMIM:236670
HP:0008551	Microtia	9215	LARGE1	OMIM:236670
HP:0008551	Microtia	79147	FKRP	OMIM:236670
HP:0008551	Microtia	10585	POMT1	OMIM:236670
HP:0008551	Microtia	2218	FKTN	OMIM:236670
HP:0008551	Microtia	4131	MAP1B	OMIM:618918
HP:0008551	Microtia	90161	HS6ST2	OMIM:301025
HP:0008551	Microtia	55777	MBD5	OMIM:156200
HP:0008551	Microtia	4998	ORC1	OMIM:224690
HP:0008551	Microtia	4000	LMNA	OMIM:212112
HP:0008551	Microtia	3209	HOXA13	ORPHA:2438
HP:0008551	Microtia	7703	PCGF2	OMIM:618371
HP:0008551	Microtia	5718	PSMD12	ORPHA:529962
HP:0008551	Microtia	2186	BPTF	ORPHA:529962
HP:0008551	Microtia	5000	ORC4	OMIM:613800
HP:0008551	Microtia	5116	PCNT	OMIM:210720
HP:0008551	Microtia	81620	CDT1	OMIM:613804
HP:0008551	Microtia	9343	EFTUD2	OMIM:610536
HP:0008551	Microtia	9343	EFTUD2	ORPHA:79113
HP:0008551	Microtia	23594	ORC6	OMIM:613803
HP:0008551	Microtia	990	CDC6	OMIM:613805
HP:0008551	Microtia	8405	SPOP	OMIM:618829
HP:0008551	Microtia	84172	POLR1B	ORPHA:861
HP:0008551	Microtia	51082	POLR1D	ORPHA:861
HP:0008551	Microtia	51082	POLR1D	OMIM:613717
HP:0008551	Microtia	23556	PIGN	ORPHA:280633
HP:0008551	Microtia	5058	PAK1	OMIM:618158
HP:0008551	Microtia	8318	CDC45	OMIM:617063
HP:0008551	Microtia	139285	AMER1	OMIM:300373
HP:0008551	Microtia	1984	EIF5A	OMIM:619376
HP:0008551	Microtia	55835	CENPJ	OMIM:608393
HP:0008551	Microtia	3655	ITGA6	OMIM:619817
HP:0008551	Microtia	5557	PRIM1	OMIM:620005
HP:0008551	Microtia	26229	B3GAT3	OMIM:245600
HP:0008551	Microtia	5087	PBX1	OMIM:617641
HP:0008551	Microtia	7388	UQCRH	OMIM:620137
HP:0008551	Microtia	25886	POC1A	OMIM:614813
HP:0008551	Microtia	58499	ZNF462	OMIM:618619
HP:0008551	Microtia	145173	B3GLCT	ORPHA:709
HP:0008551	Microtia	145173	B3GLCT	OMIM:261540
HP:0008551	Microtia	117581	TWIST2	OMIM:209885
HP:0008551	Microtia	117581	TWIST2	OMIM:200110
HP:0008551	Microtia	6913	TBX15	OMIM:260660
HP:0008551	Microtia	9968	MED12	OMIM:305450
HP:0008551	Microtia	2248	FGF3	OMIM:610706
HP:0008551	Microtia	2187	FANCB	ORPHA:3412
HP:0008551	Microtia	26123	TCTN3	ORPHA:2753
HP:0008554	Cochlear malformation	3766	KCNJ10	OMIM:600791
HP:0008554	Cochlear malformation	2299	FOXI1	OMIM:600791
HP:0008554	Cochlear malformation	5172	SLC26A4	OMIM:600791
HP:0008554	Cochlear malformation	23498	HAAO	OMIM:617660
HP:0008554	Cochlear malformation	2138	EYA1	OMIM:113650
HP:0008554	Cochlear malformation	6495	SIX1	OMIM:113650
HP:0008554	Cochlear malformation	4998	ORC1	OMIM:224690
HP:0008554	Cochlear malformation	10847	SRCAP	ORPHA:2044
HP:0008554	Cochlear malformation	1288	COL4A6	OMIM:300914
HP:0001392	Abnormality of the liver	8942	KYNU	OMIM:236800
HP:0001392	Abnormality of the liver	2313	FLI1	ORPHA:370348
HP:0001392	Abnormality of the liver	51594	NBAS	OMIM:616483
HP:0001392	Abnormality of the liver	11330	CTRC	ORPHA:103918
HP:0001392	Abnormality of the liver	11330	CTRC	ORPHA:676
HP:0001392	Abnormality of the liver	6690	SPINK1	ORPHA:103918
HP:0001392	Abnormality of the liver	6690	SPINK1	ORPHA:676
HP:0001392	Abnormality of the liver	5213	PFKM	OMIM:232800
HP:0001392	Abnormality of the liver	27429	HTRA2	OMIM:617248
HP:0001392	Abnormality of the liver	763	CA5A	OMIM:615751
HP:0001392	Abnormality of the liver	7849	PAX8	ORPHA:95720
HP:0001392	Abnormality of the liver	7849	PAX8	ORPHA:95712
HP:0001392	Abnormality of the liver	5172	SLC26A4	ORPHA:95720
HP:0001392	Abnormality of the liver	8260	NAA10	OMIM:300855
HP:0001392	Abnormality of the liver	1482	NKX2-5	ORPHA:95712
HP:0001392	Abnormality of the liver	9493	KIF23	OMIM:105600
HP:0001392	Abnormality of the liver	5644	PRSS1	ORPHA:676
HP:0001392	Abnormality of the liver	5645	PRSS2	ORPHA:676
HP:0001392	Abnormality of the liver	1357	CPA1	ORPHA:676
HP:0001392	Abnormality of the liver	286410	ATP11C	OMIM:301015
HP:0001392	Abnormality of the liver	10483	SEC23B	OMIM:224100
HP:0001392	Abnormality of the liver	51124	IER3IP1	OMIM:614231
HP:0001392	Abnormality of the liver	3098	HK1	OMIM:235700
HP:0001392	Abnormality of the liver	2215	FCGR3B	ORPHA:464370
HP:0001392	Abnormality of the liver	25974	MMACHC	ORPHA:79282
HP:0001392	Abnormality of the liver	28234	SLCO1B3	ORPHA:3111
HP:0001392	Abnormality of the liver	10599	SLCO1B1	ORPHA:3111
HP:0001392	Abnormality of the liver	157570	ESCO2	OMIM:268300
HP:0001392	Abnormality of the liver	53834	FGFRL1	OMIM:194190
HP:0001392	Abnormality of the liver	212	ALAS2	OMIM:300752
HP:0001392	Abnormality of the liver	7461	CLIP2	ORPHA:904
HP:0001392	Abnormality of the liver	84277	DNAJC30	ORPHA:904
HP:0001392	Abnormality of the liver	8468	FKBP6	ORPHA:904
HP:0001392	Abnormality of the liver	5982	RFC2	ORPHA:904
HP:0001392	Abnormality of the liver	2969	GTF2I	ORPHA:904
HP:0001392	Abnormality of the liver	3984	LIMK1	ORPHA:904
HP:0001392	Abnormality of the liver	9569	GTF2IRD1	ORPHA:904
HP:0001392	Abnormality of the liver	155382	VPS37D	ORPHA:904
HP:0001392	Abnormality of the liver	155368	METTL27	ORPHA:904
HP:0001392	Abnormality of the liver	114049	BUD23	ORPHA:904
HP:0001392	Abnormality of the liver	7458	EIF4H	ORPHA:904
HP:0001392	Abnormality of the liver	84163	GTF2IRD2	ORPHA:904
HP:0001392	Abnormality of the liver	9275	BCL7B	ORPHA:904
HP:0001392	Abnormality of the liver	26608	TBL2	ORPHA:904
HP:0001392	Abnormality of the liver	135886	TMEM270	ORPHA:904
HP:0001392	Abnormality of the liver	9031	BAZ1B	ORPHA:904
HP:0001392	Abnormality of the liver	6340	SCNN1G	ORPHA:171876
HP:0001392	Abnormality of the liver	6337	SCNN1A	ORPHA:171876
HP:0001392	Abnormality of the liver	6338	SCNN1B	ORPHA:171876
HP:0001392	Abnormality of the liver	1760	DMPK	OMIM:160900
HP:0001392	Abnormality of the liver	8242	KDM5C	OMIM:300534
HP:0001392	Abnormality of the liver	81857	MED25	ORPHA:464738
HP:0001392	Abnormality of the liver	1312	COMT	ORPHA:567
HP:0001392	Abnormality of the liver	221037	JMJD1C	ORPHA:567
HP:0001392	Abnormality of the liver	2812	GP1BB	ORPHA:567
HP:0001392	Abnormality of the liver	6239	RREB1	ORPHA:567
HP:0001392	Abnormality of the liver	7290	HIRA	ORPHA:567
HP:0001392	Abnormality of the liver	9632	SEC24C	ORPHA:567
HP:0001392	Abnormality of the liver	7353	UFD1	ORPHA:567
HP:0001392	Abnormality of the liver	421	ARVCF	ORPHA:567
HP:0001392	Abnormality of the liver	7386	UQCRFS1	OMIM:618775
HP:0001392	Abnormality of the liver	4204	MECP2	ORPHA:778
HP:0001392	Abnormality of the liver	55112	DYNC2I1	ORPHA:474
HP:0001392	Abnormality of the liver	153241	CEP120	ORPHA:474
HP:0001392	Abnormality of the liver	57560	IFT80	ORPHA:474
HP:0001392	Abnormality of the liver	51626	DYNC2LI1	ORPHA:474
HP:0001392	Abnormality of the liver	79659	DYNC2H1	ORPHA:474
HP:0001392	Abnormality of the liver	57728	WDR19	ORPHA:474
HP:0001392	Abnormality of the liver	89891	DYNC2I2	ORPHA:474
HP:0001392	Abnormality of the liver	79809	TTC21B	ORPHA:474
HP:0001392	Abnormality of the liver	291	SLC25A4	ORPHA:254892
HP:0001392	Abnormality of the liver	5428	POLG	ORPHA:254892
HP:0001392	Abnormality of the liver	56652	TWNK	ORPHA:254892
HP:0001392	Abnormality of the liver	50484	RRM2B	ORPHA:254892
HP:0001392	Abnormality of the liver	1244	ABCC2	ORPHA:234
HP:0001392	Abnormality of the liver	55532	SLC30A10	ORPHA:309854
HP:0001392	Abnormality of the liver	23600	AMACR	OMIM:614307
HP:0001392	Abnormality of the liver	4609	MYC	ORPHA:543
HP:0001392	Abnormality of the liver	6804	STX1A	ORPHA:586
HP:0001392	Abnormality of the liver	2947	GSTM3	ORPHA:586
HP:0001392	Abnormality of the liver	7040	TGFB1	ORPHA:586
HP:0001392	Abnormality of the liver	2729	GCLC	ORPHA:586
HP:0001392	Abnormality of the liver	1084	CEACAM3	ORPHA:586
HP:0001392	Abnormality of the liver	6556	SLC11A1	ORPHA:586
HP:0001392	Abnormality of the liver	51164	DCTN4	ORPHA:586
HP:0001392	Abnormality of the liver	3783	KCNN4	ORPHA:586
HP:0001392	Abnormality of the liver	4282	MIF	ORPHA:586
HP:0001392	Abnormality of the liver	1909	EDNRA	ORPHA:586
HP:0001392	Abnormality of the liver	6550	SLC9A3	ORPHA:586
HP:0001392	Abnormality of the liver	3162	HMOX1	ORPHA:586
HP:0001392	Abnormality of the liver	115019	SLC26A9	ORPHA:586
HP:0001392	Abnormality of the liver	3077	HFE	ORPHA:586
HP:0001392	Abnormality of the liver	11254	SLC6A14	ORPHA:586
HP:0001392	Abnormality of the liver	5265	SERPINA1	ORPHA:586
HP:0001392	Abnormality of the liver	1080	CFTR	ORPHA:586
HP:0001392	Abnormality of the liver	22802	CLCA4	ORPHA:586
HP:0001392	Abnormality of the liver	4680	CEACAM6	ORPHA:586
HP:0001392	Abnormality of the liver	3028	HSD17B10	ORPHA:391457
HP:0001392	Abnormality of the liver	4552	MTRR	ORPHA:2169
HP:0001392	Abnormality of the liver	590	BCHE	ORPHA:132
HP:0001392	Abnormality of the liver	55670	PEX26	ORPHA:44
HP:0001392	Abnormality of the liver	5824	PEX19	ORPHA:44
HP:0001392	Abnormality of the liver	8504	PEX3	ORPHA:44
HP:0001392	Abnormality of the liver	9409	PEX16	ORPHA:44
HP:0001392	Abnormality of the liver	5190	PEX6	ORPHA:44
HP:0001392	Abnormality of the liver	8799	PEX11B	ORPHA:44
HP:0001392	Abnormality of the liver	5830	PEX5	ORPHA:44
HP:0001392	Abnormality of the liver	5189	PEX1	ORPHA:44
HP:0001392	Abnormality of the liver	5193	PEX12	ORPHA:44
HP:0001392	Abnormality of the liver	5194	PEX13	ORPHA:44
HP:0001392	Abnormality of the liver	5195	PEX14	ORPHA:44
HP:0001392	Abnormality of the liver	5192	PEX10	ORPHA:44
HP:0001392	Abnormality of the liver	7018	TF	OMIM:209300
HP:0001392	Abnormality of the liver	6389	SDHA	ORPHA:44890
HP:0001392	Abnormality of the liver	6390	SDHB	ORPHA:44890
HP:0001392	Abnormality of the liver	6391	SDHC	ORPHA:44890
HP:0001392	Abnormality of the liver	5156	PDGFRA	ORPHA:44890
HP:0001392	Abnormality of the liver	3815	KIT	ORPHA:44890
HP:0001392	Abnormality of the liver	5155	PDGFB	ORPHA:1980
HP:0001392	Abnormality of the liver	9213	XPR1	ORPHA:1980
HP:0001392	Abnormality of the liver	5159	PDGFRB	ORPHA:1980
HP:0001392	Abnormality of the liver	57462	MYORG	ORPHA:1980
HP:0001392	Abnormality of the liver	6575	SLC20A2	ORPHA:1980
HP:0001392	Abnormality of the liver	58494	JAM2	ORPHA:1980
HP:0001392	Abnormality of the liver	3431	SP110	OMIM:235550
HP:0001392	Abnormality of the liver	64116	SLC39A8	ORPHA:468699
HP:0001392	Abnormality of the liver	29929	ALG6	ORPHA:79320
HP:0001392	Abnormality of the liver	10459	MAD2L2	ORPHA:84
HP:0001392	Abnormality of the liver	7516	XRCC2	ORPHA:84
HP:0001392	Abnormality of the liver	29089	UBE2T	ORPHA:84
HP:0001392	Abnormality of the liver	55120	FANCL	ORPHA:84
HP:0001392	Abnormality of the liver	2177	FANCD2	ORPHA:84
HP:0001392	Abnormality of the liver	2175	FANCA	ORPHA:84
HP:0001392	Abnormality of the liver	2187	FANCB	ORPHA:84
HP:0001392	Abnormality of the liver	2176	FANCC	ORPHA:84
HP:0001392	Abnormality of the liver	2178	FANCE	ORPHA:84
HP:0001392	Abnormality of the liver	2188	FANCF	ORPHA:84
HP:0001392	Abnormality of the liver	2189	FANCG	ORPHA:84
HP:0001392	Abnormality of the liver	5888	RAD51	ORPHA:84
HP:0001392	Abnormality of the liver	5889	RAD51C	ORPHA:84
HP:0001392	Abnormality of the liver	55159	RFWD3	ORPHA:84
HP:0001392	Abnormality of the liver	83990	BRIP1	ORPHA:84
HP:0001392	Abnormality of the liver	57697	FANCM	ORPHA:84
HP:0001392	Abnormality of the liver	84464	SLX4	ORPHA:84
HP:0001392	Abnormality of the liver	2072	ERCC4	ORPHA:84
HP:0001392	Abnormality of the liver	55215	FANCI	ORPHA:84
HP:0001392	Abnormality of the liver	64127	NOD2	ORPHA:90340
HP:0001392	Abnormality of the liver	9451	EIF2AK3	ORPHA:1667
HP:0001392	Abnormality of the liver	191	AHCY	ORPHA:88618
HP:0001392	Abnormality of the liver	4556	MT-TE	ORPHA:254864
HP:0001392	Abnormality of the liver	55687	TRMU	ORPHA:254864
HP:0001392	Abnormality of the liver	23495	TNFRSF13B	ORPHA:1572
HP:0001392	Abnormality of the liver	4790	NFKB1	ORPHA:1572
HP:0001392	Abnormality of the liver	4791	NFKB2	ORPHA:1572
HP:0001392	Abnormality of the liver	115650	TNFRSF13C	ORPHA:1572
HP:0001392	Abnormality of the liver	1380	CR2	ORPHA:1572
HP:0001392	Abnormality of the liver	8742	TNFSF12	ORPHA:1572
HP:0001392	Abnormality of the liver	5580	PRKCD	ORPHA:1572
HP:0001392	Abnormality of the liver	930	CD19	ORPHA:1572
HP:0001392	Abnormality of the liver	29851	ICOS	ORPHA:1572
HP:0001392	Abnormality of the liver	931	MS4A1	ORPHA:1572
HP:0001392	Abnormality of the liver	975	CD81	ORPHA:1572
HP:0001392	Abnormality of the liver	359948	IRF2BP2	ORPHA:1572
HP:0001392	Abnormality of the liver	5498	PPOX	ORPHA:79473
HP:0001392	Abnormality of the liver	54658	UGT1A1	ORPHA:79234
HP:0001392	Abnormality of the liver	94	ACVRL1	OMIM:600376
HP:0001392	Abnormality of the liver	94	ACVRL1	ORPHA:774
HP:0001392	Abnormality of the liver	2632	GBE1	OMIM:232500
HP:0001392	Abnormality of the liver	9414	TJP2	OMIM:615878
HP:0001392	Abnormality of the liver	1736	DKC1	OMIM:305000
HP:0001392	Abnormality of the liver	1736	DKC1	ORPHA:1775
HP:0001392	Abnormality of the liver	148738	HJV	OMIM:602390
HP:0001392	Abnormality of the liver	80270	HSD3B7	ORPHA:79301
HP:0001392	Abnormality of the liver	80270	HSD3B7	OMIM:607765
HP:0001392	Abnormality of the liver	2153	F5	OMIM:600880
HP:0001392	Abnormality of the liver	2153	F5	ORPHA:131
HP:0001392	Abnormality of the liver	3717	JAK2	OMIM:600880
HP:0001392	Abnormality of the liver	3717	JAK2	ORPHA:131
HP:0001392	Abnormality of the liver	6440	SFTPC	OMIM:178500
HP:0001392	Abnormality of the liver	727897	MUC5B	OMIM:178500
HP:0001392	Abnormality of the liver	729238	SFTPA2	OMIM:178500
HP:0001392	Abnormality of the liver	162	AP1B1	OMIM:242150
HP:0001392	Abnormality of the liver	26277	TINF2	OMIM:127550
HP:0001392	Abnormality of the liver	26277	TINF2	ORPHA:1775
HP:0001392	Abnormality of the liver	7012	TERC	OMIM:127550
HP:0001392	Abnormality of the liver	7012	TERC	OMIM:614743
HP:0001392	Abnormality of the liver	7012	TERC	ORPHA:1775
HP:0001392	Abnormality of the liver	1890	TYMP	ORPHA:298
HP:0001392	Abnormality of the liver	3980	LIG3	ORPHA:298
HP:0001392	Abnormality of the liver	25839	COG4	ORPHA:263501
HP:0001392	Abnormality of the liver	25839	COG4	OMIM:613489
HP:0001392	Abnormality of the liver	2022	ENG	OMIM:187300
HP:0001392	Abnormality of the liver	2022	ENG	ORPHA:774
HP:0001392	Abnormality of the liver	2212	FCGR2A	OMIM:219700
HP:0001392	Abnormality of the liver	8647	ABCB11	OMIM:601847
HP:0001392	Abnormality of the liver	9971	NR1H4	OMIM:617049
HP:0001392	Abnormality of the liver	650	BMP2	OMIM:235200
HP:0001392	Abnormality of the liver	9056	SLC7A7	ORPHA:470
HP:0001392	Abnormality of the liver	2592	GALT	OMIM:230400
HP:0001392	Abnormality of the liver	5205	ATP8B1	OMIM:211600
HP:0001392	Abnormality of the liver	7036	TFR2	OMIM:604250
HP:0001392	Abnormality of the liver	50615	IL21R	OMIM:615207
HP:0001392	Abnormality of the liver	57570	TRMT5	OMIM:616539
HP:0001392	Abnormality of the liver	3516	RBPJ	ORPHA:974
HP:0001392	Abnormality of the liver	4851	NOTCH1	ORPHA:974
HP:0001392	Abnormality of the liver	57514	ARHGAP31	ORPHA:974
HP:0001392	Abnormality of the liver	57572	DOCK6	ORPHA:974
HP:0001392	Abnormality of the liver	285203	EOGT	ORPHA:974
HP:0001392	Abnormality of the liver	2658	GDF2	ORPHA:774
HP:0001392	Abnormality of the liver	811	CALR	ORPHA:131
HP:0001392	Abnormality of the liver	445	ASS1	OMIM:215700
HP:0001392	Abnormality of the liver	84317	CCDC115	OMIM:616828
HP:0001392	Abnormality of the liver	2184	FAH	OMIM:276700
HP:0001392	Abnormality of the liver	83737	ITCH	ORPHA:228426
HP:0001392	Abnormality of the liver	112752	IFT43	OMIM:614099
HP:0001392	Abnormality of the liver	80169	CTC1	ORPHA:1775
HP:0001392	Abnormality of the liver	79650	USB1	ORPHA:1775
HP:0001392	Abnormality of the liver	55135	WRAP53	ORPHA:1775
HP:0001392	Abnormality of the liver	51750	RTEL1	ORPHA:1775
HP:0001392	Abnormality of the liver	4869	NPM1	ORPHA:1775
HP:0001392	Abnormality of the liver	5073	PARN	ORPHA:1775
HP:0001392	Abnormality of the liver	7298	TYMS	ORPHA:1775
HP:0001392	Abnormality of the liver	7389	UROD	OMIM:176100
HP:0001392	Abnormality of the liver	2235	FECH	ORPHA:79278
HP:0001392	Abnormality of the liver	950	SCARB2	ORPHA:77259
HP:0001392	Abnormality of the liver	4750	NEK1	OMIM:263520
HP:0001392	Abnormality of the liver	4233	MET	ORPHA:33402
HP:0001392	Abnormality of the liver	1499	CTNNB1	ORPHA:33402
HP:0001392	Abnormality of the liver	197131	UBR1	OMIM:243800
HP:0001392	Abnormality of the liver	7015	TERT	OMIM:613989
HP:0001392	Abnormality of the liver	427	ASAH1	ORPHA:333
HP:0001392	Abnormality of the liver	1777	DNASE2	OMIM:619858
HP:0001392	Abnormality of the liver	54567	DLL4	OMIM:616589
HP:0001392	Abnormality of the liver	84100	ARL6	OMIM:209900
HP:0001392	Abnormality of the liver	84100	ARL6	ORPHA:110
HP:0001392	Abnormality of the liver	79140	CCDC28B	OMIM:209900
HP:0001392	Abnormality of the liver	582	BBS1	OMIM:209900
HP:0001392	Abnormality of the liver	582	BBS1	ORPHA:110
HP:0001392	Abnormality of the liver	5257	PHKB	ORPHA:79240
HP:0001392	Abnormality of the liver	55764	IFT122	OMIM:218330
HP:0001392	Abnormality of the liver	92482	BBIP1	ORPHA:110
HP:0001392	Abnormality of the liver	80184	CEP290	ORPHA:110
HP:0001392	Abnormality of the liver	49855	SCAPER	ORPHA:110
HP:0001392	Abnormality of the liver	4867	NPHP1	ORPHA:110
HP:0001392	Abnormality of the liver	51057	WDPCP	ORPHA:110
HP:0001392	Abnormality of the liver	27241	BBS9	ORPHA:110
HP:0001392	Abnormality of the liver	22954	TRIM32	ORPHA:110
HP:0001392	Abnormality of the liver	54903	MKS1	ORPHA:110
HP:0001392	Abnormality of the liver	79738	BBS10	ORPHA:110
HP:0001392	Abnormality of the liver	123016	TTC8	ORPHA:110
HP:0001392	Abnormality of the liver	583	BBS2	ORPHA:110
HP:0001392	Abnormality of the liver	585	BBS4	ORPHA:110
HP:0001392	Abnormality of the liver	8195	MKKS	ORPHA:110
HP:0001392	Abnormality of the liver	54585	LZTFL1	ORPHA:110
HP:0001392	Abnormality of the liver	55212	BBS7	ORPHA:110
HP:0001392	Abnormality of the liver	166379	BBS12	ORPHA:110
HP:0001392	Abnormality of the liver	10806	SDCCAG8	ORPHA:110
HP:0001392	Abnormality of the liver	157657	CFAP418	ORPHA:110
HP:0001392	Abnormality of the liver	129880	BBS5	ORPHA:110
HP:0001392	Abnormality of the liver	80173	IFT74	ORPHA:110
HP:0001392	Abnormality of the liver	55768	NGLY1	OMIM:615273
HP:0001392	Abnormality of the liver	55651	NHP2	OMIM:224230
HP:0001392	Abnormality of the liver	55505	NOP10	OMIM:224230
HP:0001392	Abnormality of the liver	435	ASL	OMIM:207900
HP:0001392	Abnormality of the liver	79770	TXNDC15	OMIM:619879
HP:0001392	Abnormality of the liver	3594	IL12RB1	ORPHA:186
HP:0001392	Abnormality of the liver	23534	TNPO3	ORPHA:186
HP:0001392	Abnormality of the liver	3592	IL12A	ORPHA:186
HP:0001392	Abnormality of the liver	6689	SPIB	ORPHA:186
HP:0001392	Abnormality of the liver	5450	POU2AF1	ORPHA:186
HP:0001392	Abnormality of the liver	9966	TNFSF15	ORPHA:186
HP:0001392	Abnormality of the liver	79258	MMEL1	ORPHA:186
HP:0001392	Abnormality of the liver	3663	IRF5	ORPHA:186
HP:0001392	Abnormality of the liver	79991	STN1	OMIM:617341
HP:0001392	Abnormality of the liver	8481	OFD1	OMIM:311200
HP:0001392	Abnormality of the liver	9371	KIF3B	OMIM:618955
HP:0001392	Abnormality of the liver	4351	MPI	ORPHA:79319
HP:0001392	Abnormality of the liver	4351	MPI	OMIM:602579
HP:0001392	Abnormality of the liver	2629	GBA1	ORPHA:2072
HP:0001392	Abnormality of the liver	178	AGL	OMIM:232400
HP:0001392	Abnormality of the liver	57817	HAMP	OMIM:613313
HP:0001392	Abnormality of the liver	5557	PRIM1	OMIM:620005
HP:0001392	Abnormality of the liver	6888	TALDO1	OMIM:606003
HP:0001392	Abnormality of the liver	538	ATP7A	ORPHA:198
HP:0001392	Abnormality of the liver	5122	PCSK1	ORPHA:71528
HP:0001392	Abnormality of the liver	222546	RFX6	OMIM:615710
HP:0001392	Abnormality of the liver	26160	IFT172	OMIM:615630
HP:0001392	Abnormality of the liver	5828	PEX2	OMIM:614866
HP:0001392	Abnormality of the liver	85476	GFM1	OMIM:609060
HP:0001392	Abnormality of the liver	5443	POMC	ORPHA:71526
HP:0001392	Abnormality of the liver	5443	POMC	OMIM:609734
HP:0001392	Abnormality of the liver	3032	HADHB	ORPHA:746
HP:0001392	Abnormality of the liver	3030	HADHA	ORPHA:746
HP:0001392	Abnormality of the liver	3030	HADHA	OMIM:609015
HP:0001392	Abnormality of the liver	9095	TBX19	OMIM:201400
HP:0001392	Abnormality of the liver	374879	ZNF699	OMIM:619488
HP:0001392	Abnormality of the liver	27031	NPHP3	OMIM:208540
HP:0001392	Abnormality of the liver	27031	NPHP3	OMIM:267010
HP:0001392	Abnormality of the liver	6288	SAA1	ORPHA:85445
HP:0001392	Abnormality of the liver	644	BLVRA	OMIM:614156
HP:0001392	Abnormality of the liver	169792	GLIS3	OMIM:610199
HP:0001392	Abnormality of the liver	182	JAG1	OMIM:118450
HP:0001392	Abnormality of the liver	23729	SHPK	ORPHA:440713
HP:0001392	Abnormality of the liver	9076	CLDN1	ORPHA:59303
HP:0001392	Abnormality of the liver	9076	CLDN1	OMIM:607626
HP:0001392	Abnormality of the liver	10551	AGR2	OMIM:620233
HP:0001392	Abnormality of the liver	9968	MED12	OMIM:301068
HP:0001392	Abnormality of the liver	2859	GPR35	ORPHA:171
HP:0001392	Abnormality of the liver	10507	SEMA4D	ORPHA:171
HP:0001392	Abnormality of the liver	4485	MST1	ORPHA:171
HP:0001392	Abnormality of the liver	6925	TCF4	ORPHA:171
HP:0001392	Abnormality of the liver	79989	IFT56	OMIM:619534
HP:0001392	Abnormality of the liver	3930	LBR	OMIM:613471
HP:0001392	Abnormality of the liver	7019	TFAM	OMIM:617156
HP:0001392	Abnormality of the liver	3643	INSR	OMIM:246200
HP:0001392	Abnormality of the liver	10616	RBCK1	OMIM:615895
HP:0001392	Abnormality of the liver	130589	GALM	ORPHA:570422
HP:0001392	Abnormality of the liver	284086	NEK8	OMIM:615415
HP:0001392	Abnormality of the liver	4853	NOTCH2	OMIM:610205
HP:0001392	Abnormality of the liver	26146	TRAF3IP1	OMIM:616629
HP:0001392	Abnormality of the liver	124454	EARS2	OMIM:614924
HP:0001392	Abnormality of the liver	203286	ANKS6	OMIM:615382
HP:0001392	Abnormality of the liver	9742	IFT140	OMIM:266920
HP:0001392	Abnormality of the liver	57511	COG6	OMIM:614576
HP:0001392	Abnormality of the liver	79053	ALG8	OMIM:608104
HP:0001392	Abnormality of the liver	1174	AP1S1	OMIM:609313
HP:0001392	Abnormality of the liver	26276	VPS33B	OMIM:620010
HP:0001392	Abnormality of the liver	4069	LYZ	OMIM:105200
HP:0001392	Abnormality of the liver	2243	FGA	OMIM:105200
HP:0001392	Abnormality of the liver	335	APOA1	OMIM:105200
HP:0001392	Abnormality of the liver	567	B2M	OMIM:105200
HP:0001392	Abnormality of the liver	10159	ATP6AP2	OMIM:301045
HP:0001392	Abnormality of the liver	3376	IARS1	OMIM:617093
HP:0001392	Abnormality of the liver	3376	IARS1	ORPHA:541423
HP:0001392	Abnormality of the liver	286053	NSMCE2	OMIM:617253
HP:0001392	Abnormality of the liver	286053	NSMCE2	ORPHA:436182
HP:0001392	Abnormality of the liver	30061	SLC40A1	ORPHA:139491
HP:0001392	Abnormality of the liver	30061	SLC40A1	OMIM:606069
HP:0001392	Abnormality of the liver	229	ALDOB	OMIM:229600
HP:0001392	Abnormality of the liver	3033	HADH	OMIM:231530
HP:0001392	Abnormality of the liver	3033	HADH	ORPHA:71212
HP:0001392	Abnormality of the liver	11020	IFT27	OMIM:615996
HP:0001392	Abnormality of the liver	60684	TRAPPC11	OMIM:615356
HP:0001392	Abnormality of the liver	60684	TRAPPC11	ORPHA:369840
HP:0001392	Abnormality of the liver	1355	COX15	OMIM:615119
HP:0001392	Abnormality of the liver	63924	CIDEC	OMIM:615238
HP:0001392	Abnormality of the liver	63924	CIDEC	ORPHA:435651
HP:0001392	Abnormality of the liver	857	CAV1	OMIM:612526
HP:0001392	Abnormality of the liver	857	CAV1	ORPHA:528
HP:0001392	Abnormality of the liver	81570	CLPB	ORPHA:445038
HP:0001392	Abnormality of the liver	81570	CLPB	OMIM:616271
HP:0001392	Abnormality of the liver	51099	ABHD5	OMIM:275630
HP:0001392	Abnormality of the liver	51099	ABHD5	ORPHA:98907
HP:0001392	Abnormality of the liver	6718	AKR1D1	ORPHA:79303
HP:0001392	Abnormality of the liver	80222	TARS2	OMIM:615918
HP:0001392	Abnormality of the liver	26580	BSCL2	ORPHA:363400
HP:0001392	Abnormality of the liver	26580	BSCL2	OMIM:269700
HP:0001392	Abnormality of the liver	26580	BSCL2	ORPHA:528
HP:0001392	Abnormality of the liver	6341	SCO1	OMIM:619048
HP:0001392	Abnormality of the liver	4141	MARS1	OMIM:615486
HP:0001392	Abnormality of the liver	8882	ZPR1	OMIM:619321
HP:0001392	Abnormality of the liver	348	APOE	ORPHA:412
HP:0001392	Abnormality of the liver	2542	SLC37A4	ORPHA:79259
HP:0001392	Abnormality of the liver	2542	SLC37A4	OMIM:619525
HP:0001392	Abnormality of the liver	3949	LDLR	ORPHA:391665
HP:0001392	Abnormality of the liver	255738	PCSK9	ORPHA:391665
HP:0001392	Abnormality of the liver	26119	LDLRAP1	ORPHA:391665
HP:0001392	Abnormality of the liver	338	APOB	ORPHA:391665
HP:0001392	Abnormality of the liver	64240	ABCG5	ORPHA:391665
HP:0001392	Abnormality of the liver	64241	ABCG8	ORPHA:391665
HP:0001392	Abnormality of the liver	4358	MPV17	OMIM:618400
HP:0001392	Abnormality of the liver	4358	MPV17	OMIM:256810
HP:0001392	Abnormality of the liver	34	ACADM	OMIM:201450
HP:0001392	Abnormality of the liver	34	ACADM	ORPHA:42
HP:0001392	Abnormality of the liver	5105	PCK1	OMIM:261680
HP:0001392	Abnormality of the liver	50619	DEF6	OMIM:619573
HP:0001392	Abnormality of the liver	26007	TKFC	OMIM:618805
HP:0001392	Abnormality of the liver	5468	PPARG	ORPHA:79083
HP:0001392	Abnormality of the liver	5468	PPARG	OMIM:604367
HP:0001392	Abnormality of the liver	5468	PPARG	ORPHA:528
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:79084
HP:0001392	Abnormality of the liver	4000	LMNA	OMIM:151660
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:79474
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:280365
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:2348
HP:0001392	Abnormality of the liver	208	AKT2	ORPHA:79085
HP:0001392	Abnormality of the liver	5346	PLIN1	OMIM:613877
HP:0001392	Abnormality of the liver	5346	PLIN1	ORPHA:280356
HP:0001392	Abnormality of the liver	84823	LMNB2	ORPHA:79087
HP:0001392	Abnormality of the liver	84823	LMNB2	OMIM:608709
HP:0001392	Abnormality of the liver	7840	ALMS1	OMIM:203800
HP:0001392	Abnormality of the liver	7840	ALMS1	ORPHA:64
HP:0001392	Abnormality of the liver	1581	CYP7A1	ORPHA:209902
HP:0001392	Abnormality of the liver	10555	AGPAT2	OMIM:608594
HP:0001392	Abnormality of the liver	10555	AGPAT2	ORPHA:528
HP:0001392	Abnormality of the liver	4547	MTTP	ORPHA:14
HP:0001392	Abnormality of the liver	6899	TBX1	OMIM:188400
HP:0001392	Abnormality of the liver	5424	POLD1	OMIM:615381
HP:0001392	Abnormality of the liver	8802	SUCLG1	ORPHA:17
HP:0001392	Abnormality of the liver	84984	CEP19	OMIM:615703
HP:0001392	Abnormality of the liver	2783	GNB2	OMIM:619503
HP:0001392	Abnormality of the liver	28976	ACAD9	ORPHA:99901
HP:0001392	Abnormality of the liver	5373	PMM2	OMIM:212065
HP:0001392	Abnormality of the liver	1588	CYP19A1	ORPHA:91
HP:0001392	Abnormality of the liver	37	ACADVL	OMIM:201475
HP:0001392	Abnormality of the liver	11222	MRPL3	OMIM:614582
HP:0001392	Abnormality of the liver	6711	SPTBN1	OMIM:619475
HP:0001392	Abnormality of the liver	3991	LIPE	ORPHA:435660
HP:0001392	Abnormality of the liver	3991	LIPE	OMIM:615980
HP:0001392	Abnormality of the liver	5566	PRKACA	ORPHA:189439
HP:0001392	Abnormality of the liver	8622	PDE8B	ORPHA:189439
HP:0001392	Abnormality of the liver	5573	PRKAR1A	ORPHA:189439
HP:0001392	Abnormality of the liver	50940	PDE11A	ORPHA:189439
HP:0001392	Abnormality of the liver	51520	LARS1	OMIM:615438
HP:0001392	Abnormality of the liver	788	SLC25A20	OMIM:212138
HP:0001392	Abnormality of the liver	5590	PRKCZ	ORPHA:1606
HP:0001392	Abnormality of the liver	2563	GABRD	ORPHA:1606
HP:0001392	Abnormality of the liver	23013	SPEN	ORPHA:1606
HP:0001392	Abnormality of the liver	8510	MMP23B	ORPHA:1606
HP:0001392	Abnormality of the liver	7798	LUZP1	ORPHA:1606
HP:0001392	Abnormality of the liver	6497	SKI	ORPHA:1606
HP:0001392	Abnormality of the liver	10630	PDPN	ORPHA:1606
HP:0001392	Abnormality of the liver	3339	HSPG2	ORPHA:1606
HP:0001392	Abnormality of the liver	10277	UBE4B	ORPHA:1606
HP:0001392	Abnormality of the liver	8514	KCNAB2	ORPHA:1606
HP:0001392	Abnormality of the liver	473	RERE	ORPHA:1606
HP:0001392	Abnormality of the liver	63976	PRDM16	ORPHA:1606
HP:0001392	Abnormality of the liver	54897	CASZ1	ORPHA:1606
HP:0001392	Abnormality of the liver	10056	FARSB	OMIM:613658
HP:0001392	Abnormality of the liver	6928	HNF1B	ORPHA:93111
HP:0001392	Abnormality of the liver	10128	LRPPRC	ORPHA:70472
HP:0001392	Abnormality of the liver	2203	FBP1	ORPHA:348
HP:0001392	Abnormality of the liver	100147744	RNU7-1	OMIM:619487
HP:0001392	Abnormality of the liver	5106	PCK2	OMIM:261650
HP:0001392	Abnormality of the liver	79798	ARMC5	ORPHA:189427
HP:0001392	Abnormality of the liver	2778	GNAS	ORPHA:189427
HP:0001392	Abnormality of the liver	641	BLM	OMIM:210900
HP:0001392	Abnormality of the liver	64135	IFIH1	OMIM:615846
HP:0001392	Abnormality of the liver	7518	XRCC4	ORPHA:436182
HP:0001392	Abnormality of the liver	51128	SAR1B	ORPHA:71
HP:0001392	Abnormality of the liver	11128	POLR3A	ORPHA:3455
HP:0001392	Abnormality of the liver	3178	HNRNPA1	ORPHA:52430
HP:0001392	Abnormality of the liver	7415	VCP	ORPHA:52430
HP:0001392	Abnormality of the liver	3181	HNRNPA2B1	ORPHA:52430
HP:0001392	Abnormality of the liver	57104	PNPLA2	OMIM:610717
HP:0001392	Abnormality of the liver	57104	PNPLA2	ORPHA:98908
HP:0001392	Abnormality of the liver	1650	DDOST	ORPHA:300536
HP:0001392	Abnormality of the liver	51651	PTRH2	OMIM:616263
HP:0001392	Abnormality of the liver	2819	GPD1	OMIM:614480
HP:0001392	Abnormality of the liver	51081	MRPS7	OMIM:617872
HP:0001392	Abnormality of the liver	2193	FARSA	OMIM:619013
HP:0001392	Abnormality of the liver	8565	YARS1	OMIM:619418
HP:0001392	Abnormality of the liver	1374	CPT1A	OMIM:255120
HP:0001392	Abnormality of the liver	5236	PGM1	OMIM:614921
HP:0001392	Abnormality of the liver	55005	RMND1	OMIM:614922
HP:0001392	Abnormality of the liver	3295	HSD17B4	OMIM:261515
HP:0001392	Abnormality of the liver	9757	KMT2B	OMIM:619934
HP:0001392	Abnormality of the liver	147007	TMEM199	OMIM:616829
HP:0001392	Abnormality of the liver	875	CBS	OMIM:236200
HP:0001392	Abnormality of the liver	1376	CPT2	ORPHA:228305
HP:0001392	Abnormality of the liver	1376	CPT2	ORPHA:228308
HP:0001392	Abnormality of the liver	284119	CAVIN1	ORPHA:528
HP:0001392	Abnormality of the liver	284119	CAVIN1	OMIM:613327
HP:0001392	Abnormality of the liver	2353	FOS	ORPHA:528
HP:0001392	Abnormality of the liver	8813	DPM1	ORPHA:79322
HP:0001392	Abnormality of the liver	9054	NFS1	OMIM:619386
HP:0001392	Abnormality of the liver	35	ACADS	ORPHA:26792
HP:0001392	Abnormality of the liver	2108	ETFA	OMIM:231680
HP:0001392	Abnormality of the liver	2109	ETFB	OMIM:231680
HP:0001392	Abnormality of the liver	2110	ETFDH	OMIM:231680
HP:0001392	Abnormality of the liver	695	BTK	OMIM:300755
HP:0001392	Abnormality of the liver	83932	SPRTN	OMIM:616200
HP:0001392	Abnormality of the liver	4072	EPCAM	ORPHA:144
HP:0001392	Abnormality of the liver	5395	PMS2	ORPHA:144
HP:0001392	Abnormality of the liver	27030	MLH3	ORPHA:144
HP:0001392	Abnormality of the liver	22909	FAN1	ORPHA:144
HP:0001392	Abnormality of the liver	7048	TGFBR2	ORPHA:144
HP:0001392	Abnormality of the liver	5378	PMS1	ORPHA:144
HP:0001392	Abnormality of the liver	64218	SEMA4A	ORPHA:440437
HP:0001392	Abnormality of the liver	657	BMPR1A	ORPHA:440437
HP:0001392	Abnormality of the liver	6224	RPS20	ORPHA:440437
HP:0001392	Abnormality of the liver	3145	HMBS	OMIM:176000
HP:0001392	Abnormality of the liver	3145	HMBS	ORPHA:79276
HP:0001392	Abnormality of the liver	200931	SLC51A	OMIM:619484
HP:0001392	Abnormality of the liver	2271	FH	OMIM:606812
HP:0001392	Abnormality of the liver	164656	TMPRSS6	ORPHA:209981
HP:0001392	Abnormality of the liver	55610	VPS50	OMIM:619685
HP:0001392	Abnormality of the liver	51726	DNAJB11	OMIM:618061
HP:0001392	Abnormality of the liver	51726	DNAJB11	ORPHA:730
HP:0001392	Abnormality of the liver	23193	GANAB	ORPHA:730
HP:0001392	Abnormality of the liver	23193	GANAB	OMIM:600666
HP:0001392	Abnormality of the liver	5310	PKD1	ORPHA:730
HP:0001392	Abnormality of the liver	5310	PKD1	OMIM:173900
HP:0001392	Abnormality of the liver	29880	ALG5	ORPHA:730
HP:0001392	Abnormality of the liver	80114	BICC1	ORPHA:730
HP:0001392	Abnormality of the liver	7248	TSC1	ORPHA:805
HP:0001392	Abnormality of the liver	7249	TSC2	ORPHA:805
HP:0001392	Abnormality of the liver	125988	MICOS13	OMIM:618329
HP:0001392	Abnormality of the liver	72	ACTG2	OMIM:619431
HP:0001392	Abnormality of the liver	50674	NEUROG3	ORPHA:83620
HP:0001392	Abnormality of the liver	51085	MLXIPL	OMIM:194050
HP:0001392	Abnormality of the liver	2006	ELN	OMIM:194050
HP:0001392	Abnormality of the liver	65080	MRPL44	OMIM:615395
HP:0001392	Abnormality of the liver	79587	CARS2	OMIM:616672
HP:0001392	Abnormality of the liver	131118	DNAJC19	OMIM:610198
HP:0001392	Abnormality of the liver	131118	DNAJC19	ORPHA:66634
HP:0001392	Abnormality of the liver	861	RUNX1	ORPHA:98850
HP:0001392	Abnormality of the liver	3071	NCKAP1L	OMIM:618982
HP:0001392	Abnormality of the liver	55823	VPS11	ORPHA:466934
HP:0001392	Abnormality of the liver	5880	RAC2	OMIM:618986
HP:0001392	Abnormality of the liver	4023	LPL	OMIM:238600
HP:0001392	Abnormality of the liver	6775	STAT4	ORPHA:85408
HP:0001392	Abnormality of the liver	79722	ANKRD55	ORPHA:85408
HP:0001392	Abnormality of the liver	26191	PTPN22	ORPHA:85408
HP:0001392	Abnormality of the liver	919	CD247	ORPHA:85408
HP:0001392	Abnormality of the liver	919	CD247	ORPHA:169160
HP:0001392	Abnormality of the liver	3559	IL2RA	ORPHA:85408
HP:0001392	Abnormality of the liver	3559	IL2RA	OMIM:606367
HP:0001392	Abnormality of the liver	5771	PTPN2	ORPHA:85408
HP:0001392	Abnormality of the liver	3459	IFNGR1	OMIM:209950
HP:0001392	Abnormality of the liver	2122	MECOM	OMIM:616738
HP:0001392	Abnormality of the liver	5476	CTSA	OMIM:256540
HP:0001392	Abnormality of the liver	9382	COG1	ORPHA:263508
HP:0001392	Abnormality of the liver	915	CD3D	ORPHA:169160
HP:0001392	Abnormality of the liver	916	CD3E	ORPHA:169160
HP:0001392	Abnormality of the liver	26154	ABCA12	OMIM:601277
HP:0001392	Abnormality of the liver	9051	PSTPIP1	OMIM:604416
HP:0001392	Abnormality of the liver	970	CD70	OMIM:618261
HP:0001392	Abnormality of the liver	10043	TOM1	ORPHA:391487
HP:0001392	Abnormality of the liver	3572	IL6ST	OMIM:619750
HP:0001392	Abnormality of the liver	6774	STAT3	OMIM:615952
HP:0001392	Abnormality of the liver	8517	IKBKG	OMIM:301081
HP:0001392	Abnormality of the liver	2263	FGFR2	OMIM:614592
HP:0001392	Abnormality of the liver	2263	FGFR2	ORPHA:313855
HP:0001392	Abnormality of the liver	5788	PTPRC	OMIM:619924
HP:0001392	Abnormality of the liver	5294	PIK3CG	OMIM:619802
HP:0001392	Abnormality of the liver	3718	JAK3	ORPHA:35078
HP:0001392	Abnormality of the liver	84868	HAVCR2	ORPHA:86884
HP:0001392	Abnormality of the liver	3458	IFNG	OMIM:618963
HP:0001392	Abnormality of the liver	9939	RBM8A	OMIM:274000
HP:0001392	Abnormality of the liver	1513	CTSK	ORPHA:763
HP:0001392	Abnormality of the liver	6006	RHCE	ORPHA:71275
HP:0001392	Abnormality of the liver	2137	EXTL3	ORPHA:508533
HP:0001392	Abnormality of the liver	3561	IL2RG	ORPHA:276
HP:0001392	Abnormality of the liver	3561	IL2RG	OMIM:300400
HP:0001392	Abnormality of the liver	3561	IL2RG	ORPHA:39041
HP:0001392	Abnormality of the liver	6584	SLC22A5	ORPHA:158
HP:0001392	Abnormality of the liver	6584	SLC22A5	OMIM:212140
HP:0001392	Abnormality of the liver	1497	CTNS	OMIM:219800
HP:0001392	Abnormality of the liver	54539	NDUFB11	ORPHA:2609
HP:0001392	Abnormality of the liver	25915	NDUFAF3	ORPHA:2609
HP:0001392	Abnormality of the liver	51103	NDUFAF1	ORPHA:2609
HP:0001392	Abnormality of the liver	51103	NDUFAF1	OMIM:618234
HP:0001392	Abnormality of the liver	91942	NDUFAF2	ORPHA:2609
HP:0001392	Abnormality of the liver	51300	TIMMDC1	ORPHA:2609
HP:0001392	Abnormality of the liver	4716	NDUFB10	ORPHA:2609
HP:0001392	Abnormality of the liver	4723	NDUFV1	ORPHA:2609
HP:0001392	Abnormality of the liver	55572	FOXRED1	ORPHA:2609
HP:0001392	Abnormality of the liver	284184	NDUFAF8	ORPHA:2609
HP:0001392	Abnormality of the liver	55863	TMEM126B	ORPHA:2609
HP:0001392	Abnormality of the liver	4535	MT-ND1	ORPHA:2609
HP:0001392	Abnormality of the liver	4535	MT-ND1	ORPHA:255210
HP:0001392	Abnormality of the liver	4537	MT-ND3	ORPHA:2609
HP:0001392	Abnormality of the liver	4537	MT-ND3	ORPHA:255210
HP:0001392	Abnormality of the liver	4729	NDUFV2	ORPHA:2609
HP:0001392	Abnormality of the liver	4694	NDUFA1	ORPHA:2609
HP:0001392	Abnormality of the liver	4720	NDUFS2	ORPHA:2609
HP:0001392	Abnormality of the liver	4724	NDUFS4	ORPHA:2609
HP:0001392	Abnormality of the liver	4724	NDUFS4	OMIM:252010
HP:0001392	Abnormality of the liver	4726	NDUFS6	ORPHA:2609
HP:0001392	Abnormality of the liver	4728	NDUFS8	ORPHA:2609
HP:0001392	Abnormality of the liver	4722	NDUFS3	ORPHA:2609
HP:0001392	Abnormality of the liver	79133	NDUFAF5	ORPHA:2609
HP:0001392	Abnormality of the liver	126328	NDUFA11	ORPHA:2609
HP:0001392	Abnormality of the liver	4709	NDUFB3	ORPHA:2609
HP:0001392	Abnormality of the liver	80224	NUBPL	ORPHA:2609
HP:0001392	Abnormality of the liver	29078	NDUFAF4	ORPHA:2609
HP:0001392	Abnormality of the liver	374291	NDUFS7	ORPHA:2609
HP:0001392	Abnormality of the liver	374291	NDUFS7	OMIM:618224
HP:0001392	Abnormality of the liver	4700	NDUFA6	ORPHA:2609
HP:0001392	Abnormality of the liver	4536	MT-ND2	ORPHA:2609
HP:0001392	Abnormality of the liver	4536	MT-ND2	ORPHA:255210
HP:0001392	Abnormality of the liver	4719	NDUFS1	ORPHA:2609
HP:0001392	Abnormality of the liver	4719	NDUFS1	OMIM:618226
HP:0001392	Abnormality of the liver	4715	NDUFB9	ORPHA:2609
HP:0001392	Abnormality of the liver	57128	LYRM4	OMIM:615595
HP:0001392	Abnormality of the liver	5728	PTEN	OMIM:605309
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90324
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90321
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90322
HP:0001392	Abnormality of the liver	1161	ERCC8	OMIM:216400
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90324
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90321
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90322
HP:0001392	Abnormality of the liver	2074	ERCC6	OMIM:133540
HP:0001392	Abnormality of the liver	19	ABCA1	OMIM:205400
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230600
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230650
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230500
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:253010
HP:0001392	Abnormality of the liver	84334	COA8	ORPHA:436271
HP:0001392	Abnormality of the liver	51	ACOX1	ORPHA:2971
HP:0001392	Abnormality of the liver	51	ACOX1	OMIM:264470
HP:0001392	Abnormality of the liver	2067	ERCC1	ORPHA:90322
HP:0001392	Abnormality of the liver	4538	MT-ND4	ORPHA:255210
HP:0001392	Abnormality of the liver	4567	MT-TL1	ORPHA:255210
HP:0001392	Abnormality of the liver	4578	MT-TW	ORPHA:255210
HP:0001392	Abnormality of the liver	4577	MT-TV	ORPHA:255210
HP:0001392	Abnormality of the liver	4508	MT-ATP6	ORPHA:255210
HP:0001392	Abnormality of the liver	4540	MT-ND5	ORPHA:255210
HP:0001392	Abnormality of the liver	4541	MT-ND6	ORPHA:255210
HP:0001392	Abnormality of the liver	4566	MT-TK	ORPHA:255210
HP:0001392	Abnormality of the liver	4210	MEFV	OMIM:249100
HP:0001392	Abnormality of the liver	939	CD27	OMIM:615122
HP:0001392	Abnormality of the liver	5184	PEPD	OMIM:170100
HP:0001392	Abnormality of the liver	5184	PEPD	ORPHA:742
HP:0001392	Abnormality of the liver	65082	VPS33A	OMIM:617303
HP:0001392	Abnormality of the liver	84936	ZFYVE19	OMIM:619849
HP:0001392	Abnormality of the liver	79158	GNPTAB	OMIM:252500
HP:0001392	Abnormality of the liver	7086	TKT	ORPHA:488618
HP:0001392	Abnormality of the liver	6023	RMRP	ORPHA:175
HP:0001392	Abnormality of the liver	6023	RMRP	ORPHA:39041
HP:0001392	Abnormality of the liver	6772	STAT1	OMIM:614162
HP:0001392	Abnormality of the liver	103	ADAR	OMIM:615010
HP:0001392	Abnormality of the liver	1493	CTLA4	OMIM:616100
HP:0001392	Abnormality of the liver	1493	CTLA4	ORPHA:3162
HP:0001392	Abnormality of the liver	1493	CTLA4	ORPHA:2584
HP:0001392	Abnormality of the liver	91869	RFT1	ORPHA:244310
HP:0001392	Abnormality of the liver	91869	RFT1	OMIM:612015
HP:0001392	Abnormality of the liver	55109	AGGF1	ORPHA:90308
HP:0001392	Abnormality of the liver	57231	SNX14	OMIM:616354
HP:0001392	Abnormality of the liver	28755	TRAC	OMIM:615387
HP:0001392	Abnormality of the liver	1371	CPOX	OMIM:618892
HP:0001392	Abnormality of the liver	1371	CPOX	OMIM:121300
HP:0001392	Abnormality of the liver	388962	BOLA3	OMIM:614299
HP:0001392	Abnormality of the liver	3039	HBA1	ORPHA:163596
HP:0001392	Abnormality of the liver	3039	HBA1	OMIM:613978
HP:0001392	Abnormality of the liver	3040	HBA2	ORPHA:163596
HP:0001392	Abnormality of the liver	3040	HBA2	OMIM:613978
HP:0001392	Abnormality of the liver	1186	CLCN7	OMIM:618541
HP:0001392	Abnormality of the liver	1186	CLCN7	ORPHA:667
HP:0001392	Abnormality of the liver	1186	CLCN7	OMIM:611490
HP:0001392	Abnormality of the liver	10661	KLF1	ORPHA:46532
HP:0001392	Abnormality of the liver	10661	KLF1	OMIM:613673
HP:0001392	Abnormality of the liver	3047	HBG1	ORPHA:46532
HP:0001392	Abnormality of the liver	3048	HBG2	ORPHA:46532
HP:0001392	Abnormality of the liver	3048	HBG2	OMIM:613977
HP:0001392	Abnormality of the liver	5311	PKD2	OMIM:613095
HP:0001392	Abnormality of the liver	8482	SEMA7A	OMIM:619874
HP:0001392	Abnormality of the liver	2200	FBN1	OMIM:614185
HP:0001392	Abnormality of the liver	7381	UQCRB	OMIM:615158
HP:0001392	Abnormality of the liver	54440	SASH3	OMIM:301082
HP:0001392	Abnormality of the liver	285362	SUMF1	OMIM:272200
HP:0001392	Abnormality of the liver	285362	SUMF1	ORPHA:585
HP:0001392	Abnormality of the liver	166785	MMAA	OMIM:251100
HP:0001392	Abnormality of the liver	85365	ALG2	ORPHA:79326
HP:0001392	Abnormality of the liver	85365	ALG2	OMIM:607906
HP:0001392	Abnormality of the liver	4598	MVK	ORPHA:343
HP:0001392	Abnormality of the liver	64421	DCLRE1C	OMIM:603554
HP:0001392	Abnormality of the liver	64421	DCLRE1C	OMIM:602450
HP:0001392	Abnormality of the liver	64421	DCLRE1C	ORPHA:39041
HP:0001392	Abnormality of the liver	5896	RAG1	OMIM:603554
HP:0001392	Abnormality of the liver	5896	RAG1	ORPHA:39041
HP:0001392	Abnormality of the liver	5896	RAG1	ORPHA:331206
HP:0001392	Abnormality of the liver	5897	RAG2	OMIM:603554
HP:0001392	Abnormality of the liver	5897	RAG2	ORPHA:39041
HP:0001392	Abnormality of the liver	5897	RAG2	ORPHA:331206
HP:0001392	Abnormality of the liver	5551	PRF1	OMIM:603553
HP:0001392	Abnormality of the liver	5551	PRF1	ORPHA:540
HP:0001392	Abnormality of the liver	79796	ALG9	ORPHA:79328
HP:0001392	Abnormality of the liver	79796	ALG9	OMIM:608776
HP:0001392	Abnormality of the liver	8676	STX11	OMIM:603552
HP:0001392	Abnormality of the liver	8676	STX11	ORPHA:540
HP:0001392	Abnormality of the liver	57169	ZNFX1	OMIM:619644
HP:0001392	Abnormality of the liver	11311	VPS45	OMIM:615285
HP:0001392	Abnormality of the liver	10991	SLC38A3	OMIM:619881
HP:0001392	Abnormality of the liver	11231	SEC63	ORPHA:2924
HP:0001392	Abnormality of the liver	11231	SEC63	OMIM:617004
HP:0001392	Abnormality of the liver	5589	PRKCSH	ORPHA:2924
HP:0001392	Abnormality of the liver	4041	LRP5	ORPHA:2924
HP:0001392	Abnormality of the liver	7841	MOGS	ORPHA:79330
HP:0001392	Abnormality of the liver	7841	MOGS	OMIM:606056
HP:0001392	Abnormality of the liver	2683	B4GALT1	ORPHA:79332
HP:0001392	Abnormality of the liver	91949	COG7	ORPHA:79333
HP:0001392	Abnormality of the liver	91949	COG7	OMIM:608779
HP:0001392	Abnormality of the liver	38	ACAT1	ORPHA:134
HP:0001392	Abnormality of the liver	7030	TFE3	OMIM:301066
HP:0001392	Abnormality of the liver	23162	MAPK8IP3	OMIM:618443
HP:0001392	Abnormality of the liver	5692	PSMB4	OMIM:617591
HP:0001392	Abnormality of the liver	5698	PSMB9	OMIM:617591
HP:0001392	Abnormality of the liver	3423	IDS	OMIM:309900
HP:0001392	Abnormality of the liver	5286	PIK3C2A	OMIM:618440
HP:0001392	Abnormality of the liver	84168	ANTXR1	OMIM:230740
HP:0001392	Abnormality of the liver	3172	HNF4A	OMIM:616026
HP:0001392	Abnormality of the liver	3172	HNF4A	ORPHA:263455
HP:0001392	Abnormality of the liver	51311	TLR8	OMIM:301078
HP:0001392	Abnormality of the liver	1616	DAXX	ORPHA:100075
HP:0001392	Abnormality of the liver	546	ATRX	ORPHA:100075
HP:0001392	Abnormality of the liver	4615	MYD88	ORPHA:33226
HP:0001392	Abnormality of the liver	6576	SLC25A1	OMIM:615182
HP:0001392	Abnormality of the liver	6927	HNF1A	ORPHA:324575
HP:0001392	Abnormality of the liver	205327	C2orf69	OMIM:619423
HP:0001392	Abnormality of the liver	4633	MYL2	OMIM:619424
HP:0001392	Abnormality of the liver	3000	GUCY2D	OMIM:204000
HP:0001392	Abnormality of the liver	344	APOC2	OMIM:207750
HP:0001392	Abnormality of the liver	846	CASR	OMIM:239200
HP:0001392	Abnormality of the liver	846	CASR	ORPHA:417
HP:0001392	Abnormality of the liver	4594	MMUT	ORPHA:79312
HP:0001392	Abnormality of the liver	4594	MMUT	ORPHA:289916
HP:0001392	Abnormality of the liver	4594	MMUT	OMIM:251000
HP:0001392	Abnormality of the liver	3155	HMGCL	ORPHA:20
HP:0001392	Abnormality of the liver	3155	HMGCL	OMIM:246450
HP:0001392	Abnormality of the liver	65992	DDRGK1	OMIM:602557
HP:0001392	Abnormality of the liver	6448	SGSH	OMIM:252900
HP:0001392	Abnormality of the liver	10466	COG5	ORPHA:263487
HP:0001392	Abnormality of the liver	54517	PUS7	OMIM:618342
HP:0001392	Abnormality of the liver	8818	DPM2	ORPHA:329178
HP:0001392	Abnormality of the liver	9842	PLEKHM1	OMIM:618107
HP:0001392	Abnormality of the liver	10102	TSFM	OMIM:610505
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:75564
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:98849
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:824
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:729
HP:0001392	Abnormality of the liver	23451	SF3B1	ORPHA:75564
HP:0001392	Abnormality of the liver	10312	TCIRG1	ORPHA:667
HP:0001392	Abnormality of the liver	10312	TCIRG1	OMIM:259700
HP:0001392	Abnormality of the liver	29887	SNX10	ORPHA:667
HP:0001392	Abnormality of the liver	29887	SNX10	OMIM:615085
HP:0001392	Abnormality of the liver	8600	TNFSF11	ORPHA:667
HP:0001392	Abnormality of the liver	5095	PCCA	ORPHA:35
HP:0001392	Abnormality of the liver	5095	PCCA	OMIM:606054
HP:0001392	Abnormality of the liver	5096	PCCB	ORPHA:35
HP:0001392	Abnormality of the liver	5096	PCCB	OMIM:606054
HP:0001392	Abnormality of the liver	201294	UNC13D	ORPHA:540
HP:0001392	Abnormality of the liver	6813	STXBP2	ORPHA:540
HP:0001392	Abnormality of the liver	55315	SLC29A3	OMIM:602782
HP:0001392	Abnormality of the liver	11277	TREX1	OMIM:225750
HP:0001392	Abnormality of the liver	4695	NDUFA2	OMIM:618235
HP:0001392	Abnormality of the liver	79868	ALG13	OMIM:300884
HP:0001392	Abnormality of the liver	51119	SBDS	OMIM:260400
HP:0001392	Abnormality of the liver	51119	SBDS	ORPHA:811
HP:0001392	Abnormality of the liver	134218	DNAJC21	OMIM:260400
HP:0001392	Abnormality of the liver	134218	DNAJC21	ORPHA:811
HP:0001392	Abnormality of the liver	6729	SRP54	OMIM:260400
HP:0001392	Abnormality of the liver	6729	SRP54	ORPHA:811
HP:0001392	Abnormality of the liver	22861	NLRP1	OMIM:617388
HP:0001392	Abnormality of the liver	5660	PSAP	OMIM:611721
HP:0001392	Abnormality of the liver	5660	PSAP	OMIM:610539
HP:0001392	Abnormality of the liver	5660	PSAP	ORPHA:139406
HP:0001392	Abnormality of the liver	55503	TRPV6	ORPHA:417
HP:0001392	Abnormality of the liver	1130	LYST	OMIM:214500
HP:0001392	Abnormality of the liver	114548	NLRP3	ORPHA:575
HP:0001392	Abnormality of the liver	114548	NLRP3	ORPHA:1451
HP:0001392	Abnormality of the liver	4125	MAN2B1	OMIM:248500
HP:0001392	Abnormality of the liver	3756	KCNH1	OMIM:135500
HP:0001392	Abnormality of the liver	3756	KCNH1	ORPHA:3473
HP:0001392	Abnormality of the liver	3394	IRF8	OMIM:226990
HP:0001392	Abnormality of the liver	11274	USP18	OMIM:617397
HP:0001392	Abnormality of the liver	4864	NPC1	OMIM:257220
HP:0001392	Abnormality of the liver	3158	HMGCS2	OMIM:605911
HP:0001392	Abnormality of the liver	112812	FDX2	OMIM:251900
HP:0001392	Abnormality of the liver	55630	SLC39A4	OMIM:201100
HP:0001392	Abnormality of the liver	6007	RHD	OMIM:619462
HP:0001392	Abnormality of the liver	55340	GIMAP5	OMIM:619463
HP:0001392	Abnormality of the liver	3560	IL2RB	OMIM:618495
HP:0001392	Abnormality of the liver	8883	NAE1	OMIM:620210
HP:0001392	Abnormality of the liver	84701	COX4I2	OMIM:612714
HP:0001392	Abnormality of the liver	60386	SLC25A19	ORPHA:99742
HP:0001392	Abnormality of the liver	60386	SLC25A19	OMIM:607196
HP:0001392	Abnormality of the liver	56244	BTNL2	ORPHA:797
HP:0001392	Abnormality of the liver	56244	BTNL2	OMIM:612387
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	ORPHA:797
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	ORPHA:85414
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	OMIM:181000
HP:0001392	Abnormality of the liver	8943	AP3D1	OMIM:617050
HP:0001392	Abnormality of the liver	57003	CCDC47	OMIM:618268
HP:0001392	Abnormality of the liver	57061	HYMAI	ORPHA:96191
HP:0001392	Abnormality of the liver	5325	PLAGL1	ORPHA:96191
HP:0001392	Abnormality of the liver	570	BAAT	OMIM:619232
HP:0001392	Abnormality of the liver	94005	PIGS	OMIM:618143
HP:0001392	Abnormality of the liver	83706	FERMT3	OMIM:612840
HP:0001392	Abnormality of the liver	84665	MYPN	ORPHA:75249
HP:0001392	Abnormality of the liver	2318	FLNC	ORPHA:75249
HP:0001392	Abnormality of the liver	7139	TNNT2	ORPHA:75249
HP:0001392	Abnormality of the liver	7137	TNNI3	ORPHA:75249
HP:0001392	Abnormality of the liver	55636	CHD7	ORPHA:39041
HP:0001392	Abnormality of the liver	3981	LIG4	ORPHA:39041
HP:0001392	Abnormality of the liver	3981	LIG4	ORPHA:99812
HP:0001392	Abnormality of the liver	100	ADA	ORPHA:39041
HP:0001392	Abnormality of the liver	100	ADA	OMIM:102700
HP:0001392	Abnormality of the liver	3575	IL7R	ORPHA:39041
HP:0001392	Abnormality of the liver	3575	IL7R	OMIM:608971
HP:0001392	Abnormality of the liver	7504	XK	OMIM:300842
HP:0001392	Abnormality of the liver	8567	MADD	OMIM:619004
HP:0001392	Abnormality of the liver	8567	MADD	OMIM:619005
HP:0001392	Abnormality of the liver	374354	NHLRC2	OMIM:618278
HP:0001392	Abnormality of the liver	10651	MTX2	OMIM:619127
HP:0001392	Abnormality of the liver	226	ALDOA	OMIM:611881
HP:0001392	Abnormality of the liver	3557	IL1RN	OMIM:612852
HP:0001392	Abnormality of the liver	7284	TUFM	OMIM:610678
HP:0001392	Abnormality of the liver	2799	GNS	OMIM:252940
HP:0001392	Abnormality of the liver	940	CD28	ORPHA:3162
HP:0001392	Abnormality of the liver	940	CD28	ORPHA:2584
HP:0001392	Abnormality of the liver	7133	TNFRSF1B	ORPHA:3162
HP:0001392	Abnormality of the liver	7133	TNFRSF1B	ORPHA:2584
HP:0001392	Abnormality of the liver	7390	UROS	OMIM:263700
HP:0001392	Abnormality of the liver	8651	SOCS1	OMIM:619375
HP:0001392	Abnormality of the liver	9487	PIGL	OMIM:280000
HP:0001392	Abnormality of the liver	79651	RHBDF2	ORPHA:2198
HP:0001392	Abnormality of the liver	22800	RRAS2	ORPHA:648
HP:0001392	Abnormality of the liver	867	CBL	ORPHA:648
HP:0001392	Abnormality of the liver	8216	LZTR1	ORPHA:648
HP:0001392	Abnormality of the liver	6016	RIT1	ORPHA:648
HP:0001392	Abnormality of the liver	6237	RRAS	ORPHA:648
HP:0001392	Abnormality of the liver	5894	RAF1	ORPHA:648
HP:0001392	Abnormality of the liver	22808	MRAS	ORPHA:648
HP:0001392	Abnormality of the liver	200734	SPRED2	ORPHA:648
HP:0001392	Abnormality of the liver	4893	NRAS	ORPHA:648
HP:0001392	Abnormality of the liver	4893	NRAS	OMIM:614470
HP:0001392	Abnormality of the liver	6654	SOS1	ORPHA:648
HP:0001392	Abnormality of the liver	6655	SOS2	ORPHA:648
HP:0001392	Abnormality of the liver	5781	PTPN11	ORPHA:648
HP:0001392	Abnormality of the liver	5922	RASA2	ORPHA:648
HP:0001392	Abnormality of the liver	138050	HGSNAT	OMIM:252930
HP:0001392	Abnormality of the liver	10020	GNE	ORPHA:3166
HP:0001392	Abnormality of the liver	10020	GNE	OMIM:269921
HP:0001392	Abnormality of the liver	1719	DHFR	OMIM:613839
HP:0001392	Abnormality of the liver	64131	XYLT1	ORPHA:370930
HP:0001392	Abnormality of the liver	129285	PPP1R21	OMIM:619383
HP:0001392	Abnormality of the liver	1604	CD55	OMIM:226300
HP:0001392	Abnormality of the liver	146059	CDAN1	OMIM:224120
HP:0001392	Abnormality of the liver	10535	RNASEH2A	OMIM:610333
HP:0001392	Abnormality of the liver	5696	PSMB8	OMIM:256040
HP:0001392	Abnormality of the liver	4669	NAGLU	OMIM:252920
HP:0001392	Abnormality of the liver	27183	VPS4A	OMIM:619273
HP:0001392	Abnormality of the liver	355	FAS	ORPHA:3261
HP:0001392	Abnormality of the liver	355	FAS	OMIM:601859
HP:0001392	Abnormality of the liver	356	FASLG	ORPHA:3261
HP:0001392	Abnormality of the liver	356	FASLG	OMIM:601859
HP:0001392	Abnormality of the liver	843	CASP10	ORPHA:3261
HP:0001392	Abnormality of the liver	843	CASP10	OMIM:603909
HP:0001392	Abnormality of the liver	10125	RASGRP1	ORPHA:3261
HP:0001392	Abnormality of the liver	144811	LACC1	ORPHA:85414
HP:0001392	Abnormality of the liver	3569	IL6	ORPHA:85414
HP:0001392	Abnormality of the liver	6309	SC5D	ORPHA:46059
HP:0001392	Abnormality of the liver	4574	MT-TS1	OMIM:220110
HP:0001392	Abnormality of the liver	4570	MT-TN	OMIM:220110
HP:0001392	Abnormality of the liver	6834	SURF1	OMIM:220110
HP:0001392	Abnormality of the liver	83700	JAM3	OMIM:613730
HP:0001392	Abnormality of the liver	171023	ASXL1	ORPHA:98849
HP:0001392	Abnormality of the liver	6427	SRSF2	ORPHA:98849
HP:0001392	Abnormality of the liver	4352	MPL	ORPHA:824
HP:0001392	Abnormality of the liver	4352	MPL	ORPHA:729
HP:0001392	Abnormality of the liver	8854	ALDH1A2	OMIM:620025
HP:0001392	Abnormality of the liver	4758	NEU1	OMIM:256550
HP:0001392	Abnormality of the liver	4758	NEU1	ORPHA:93399
HP:0001392	Abnormality of the liver	4758	NEU1	ORPHA:93400
HP:0001392	Abnormality of the liver	2038	EPB42	ORPHA:822
HP:0001392	Abnormality of the liver	6521	SLC4A1	ORPHA:822
HP:0001392	Abnormality of the liver	6710	SPTB	ORPHA:822
HP:0001392	Abnormality of the liver	6708	SPTA1	ORPHA:822
HP:0001392	Abnormality of the liver	286	ANK1	ORPHA:822
HP:0001392	Abnormality of the liver	54968	TMEM70	ORPHA:1194
HP:0001392	Abnormality of the liver	2130	EWSR1	ORPHA:83469
HP:0001392	Abnormality of the liver	6392	SDHD	OMIM:619167
HP:0001392	Abnormality of the liver	79947	DHDDS	OMIM:613861
HP:0001392	Abnormality of the liver	55788	LMBRD1	OMIM:277380
HP:0001392	Abnormality of the liver	10225	CD96	OMIM:211750
HP:0001392	Abnormality of the liver	79631	EFL1	ORPHA:811
HP:0001392	Abnormality of the liver	79631	EFL1	OMIM:617941
HP:0001392	Abnormality of the liver	7535	ZAP70	OMIM:269840
HP:0001392	Abnormality of the liver	84987	COX14	OMIM:619053
HP:0001392	Abnormality of the liver	6005	RHAG	OMIM:185000
HP:0001392	Abnormality of the liver	1738	DLD	ORPHA:2394
HP:0001392	Abnormality of the liver	1738	DLD	OMIM:246900
HP:0001392	Abnormality of the liver	5699	PSMB10	OMIM:619175
HP:0001392	Abnormality of the liver	2538	G6PC1	OMIM:232200
HP:0001392	Abnormality of the liver	92579	G6PC3	OMIM:612541
HP:0001392	Abnormality of the liver	9927	MFN2	ORPHA:2398
HP:0001392	Abnormality of the liver	686	BTD	OMIM:253260
HP:0001392	Abnormality of the liver	8792	TNFRSF11A	OMIM:612301
HP:0001392	Abnormality of the liver	7132	TNFRSF1A	OMIM:142680
HP:0001392	Abnormality of the liver	55858	TMEM165	OMIM:614727
HP:0001392	Abnormality of the liver	8546	AP3B1	OMIM:608233
HP:0001392	Abnormality of the liver	5313	PKLR	OMIM:266200
HP:0001392	Abnormality of the liver	56984	PSMG2	OMIM:619183
HP:0001392	Abnormality of the liver	23116	TOGARAM1	OMIM:619185
HP:0001392	Abnormality of the liver	9377	COX5A	OMIM:619064
HP:0001392	Abnormality of the liver	4591	TRIM37	OMIM:253250
HP:0001392	Abnormality of the liver	4591	TRIM37	ORPHA:2576
HP:0001392	Abnormality of the liver	23230	VPS13A	ORPHA:2388
HP:0001392	Abnormality of the liver	63894	VIPAS39	OMIM:613404
HP:0001392	Abnormality of the liver	526	ATP6V1B2	ORPHA:3473
HP:0001392	Abnormality of the liver	3782	KCNN3	ORPHA:3473
HP:0001392	Abnormality of the liver	3425	IDUA	OMIM:607014
HP:0001392	Abnormality of the liver	3425	IDUA	OMIM:607015
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93474
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93473
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93476
HP:0001392	Abnormality of the liver	175	AGA	ORPHA:93
HP:0001392	Abnormality of the liver	175	AGA	OMIM:208400
HP:0001392	Abnormality of the liver	374393	FAM111B	OMIM:615704
HP:0001392	Abnormality of the liver	338328	GPIHBP1	OMIM:615947
HP:0001392	Abnormality of the liver	1798	DPAGT1	ORPHA:86309
HP:0001392	Abnormality of the liver	5091	PC	OMIM:266150
HP:0001392	Abnormality of the liver	4607	MYBPC3	OMIM:115197
HP:0001392	Abnormality of the liver	51660	MPC1	OMIM:614741
HP:0001392	Abnormality of the liver	4519	MT-CYB	ORPHA:137675
HP:0001392	Abnormality of the liver	9719	ADAMTSL2	OMIM:231050
HP:0001392	Abnormality of the liver	2624	GATA2	ORPHA:3226
HP:0001392	Abnormality of the liver	2548	GAA	ORPHA:308552
HP:0001392	Abnormality of the liver	2548	GAA	OMIM:232300
HP:0001392	Abnormality of the liver	3662	IRF4	ORPHA:3452
HP:0001392	Abnormality of the liver	3911	LAMA5	OMIM:620076
HP:0001392	Abnormality of the liver	55343	SLC35C1	ORPHA:99843
HP:0001392	Abnormality of the liver	8314	BAP1	ORPHA:50251
HP:0001392	Abnormality of the liver	162417	NAGS	ORPHA:927
HP:0001392	Abnormality of the liver	28962	OSTM1	OMIM:259720
HP:0001392	Abnormality of the liver	10568	SLC34A2	ORPHA:60025
HP:0001392	Abnormality of the liver	51067	YARS2	OMIM:613561
HP:0001392	Abnormality of the liver	93183	PIGM	OMIM:610293
HP:0001392	Abnormality of the liver	7351	UCP2	ORPHA:276556
HP:0001392	Abnormality of the liver	56052	ALG1	OMIM:608540
HP:0001392	Abnormality of the liver	4054	LTBP3	OMIM:617809
HP:0001392	Abnormality of the liver	84529	CDIN1	OMIM:615631
HP:0001392	Abnormality of the liver	11133	KPTN	OMIM:615637
HP:0001392	Abnormality of the liver	6948	TCN2	OMIM:275350
HP:0001392	Abnormality of the liver	1776	DNASE1L3	ORPHA:36412
HP:0001392	Abnormality of the liver	9780	PIEZO1	OMIM:194380
HP:0001392	Abnormality of the liver	4173	MCM4	OMIM:609981
HP:0001392	Abnormality of the liver	411	ARSB	OMIM:253200
HP:0001392	Abnormality of the liver	55593	OTUD5	OMIM:301056
HP:0001392	Abnormality of the liver	3074	HEXB	OMIM:268800
HP:0001392	Abnormality of the liver	549	AUH	ORPHA:67046
HP:0001392	Abnormality of the liver	10525	HYOU1	OMIM:233600
HP:0001392	Abnormality of the liver	4792	NFKBIA	OMIM:612132
HP:0001392	Abnormality of the liver	6513	SLC2A1	OMIM:608885
HP:0001392	Abnormality of the liver	6833	ABCC8	ORPHA:276575
HP:0001392	Abnormality of the liver	3767	KCNJ11	ORPHA:276580
HP:0001392	Abnormality of the liver	7547	ZIC3	OMIM:306955
HP:0001392	Abnormality of the liver	9663	LPIN2	ORPHA:77297
HP:0001392	Abnormality of the liver	6097	RORC	OMIM:616622
HP:0001392	Abnormality of the liver	6663	SOX10	ORPHA:163746
HP:0001392	Abnormality of the liver	708	C1QBP	OMIM:617713
HP:0001392	Abnormality of the liver	3248	HPGD	ORPHA:2796
HP:0001392	Abnormality of the liver	6578	SLCO2A1	ORPHA:2796
HP:0001392	Abnormality of the liver	91647	ATPAF2	OMIM:604273
HP:0001392	Abnormality of the liver	84061	MAGT1	OMIM:301031
HP:0001392	Abnormality of the liver	55210	ATAD3A	OMIM:618810
HP:0001392	Abnormality of the liver	326625	MMAB	OMIM:251110
HP:0001392	Abnormality of the liver	5873	RAB27A	ORPHA:79477
HP:0001392	Abnormality of the liver	760	CA2	ORPHA:2785
HP:0001392	Abnormality of the liver	2584	GALK1	ORPHA:79237
HP:0001392	Abnormality of the liver	9997	SCO2	OMIM:604377
HP:0001392	Abnormality of the liver	10367	MICU1	OMIM:615673
HP:0001392	Abnormality of the liver	3702	ITK	OMIM:613011
HP:0001392	Abnormality of the liver	2588	GALNS	OMIM:253000
HP:0001392	Abnormality of the liver	2065	ERBB3	OMIM:133180
HP:0001392	Abnormality of the liver	26047	CNTNAP2	ORPHA:163681
HP:0001392	Abnormality of the liver	200894	ARL13B	OMIM:612291
HP:0001392	Abnormality of the liver	100151683	RNU4ATAC	OMIM:616651
HP:0001392	Abnormality of the liver	51816	ADA2	OMIM:615688
HP:0001392	Abnormality of the liver	28957	MRPS28	OMIM:618958
HP:0001392	Abnormality of the liver	3931	LCAT	ORPHA:79292
HP:0001392	Abnormality of the liver	100506658	OCLN	OMIM:251290
HP:0001392	Abnormality of the liver	27232	GNMT	OMIM:606664
HP:0001392	Abnormality of the liver	10577	NPC2	OMIM:607625
HP:0001392	Abnormality of the liver	26503	SLC17A5	OMIM:269920
HP:0001392	Abnormality of the liver	2990	GUSB	OMIM:253220
HP:0001392	Abnormality of the liver	4668	NAGA	ORPHA:79281
HP:0001392	Abnormality of the liver	4668	NAGA	ORPHA:79279
HP:0001392	Abnormality of the liver	2639	GCDH	OMIM:231670
HP:0001392	Abnormality of the liver	8737	RIPK1	OMIM:618852
HP:0001392	Abnormality of the liver	3636	INPPL1	ORPHA:2746
HP:0001392	Abnormality of the liver	1794	DOCK2	OMIM:616433
HP:0001392	Abnormality of the liver	2582	GALE	OMIM:230350
HP:0001392	Abnormality of the liver	105371045	PERCC1	ORPHA:92050
HP:0001392	Abnormality of the liver	10908	PNPLA6	ORPHA:2377
HP:0001392	Abnormality of the liver	9657	IQCB1	ORPHA:3156
HP:0001392	Abnormality of the liver	27130	INVS	ORPHA:3156
HP:0001392	Abnormality of the liver	261734	NPHP4	ORPHA:3156
HP:0001392	Abnormality of the liver	22897	CEP164	ORPHA:3156
HP:0001392	Abnormality of the liver	2239	GPC4	ORPHA:373
HP:0001392	Abnormality of the liver	2239	GPC4	OMIM:312870
HP:0001392	Abnormality of the liver	324	APC	ORPHA:261584
HP:0001392	Abnormality of the liver	324	APC	ORPHA:99818
HP:0001392	Abnormality of the liver	324	APC	OMIM:175100
HP:0001392	Abnormality of the liver	324	APC	ORPHA:79665
HP:0001392	Abnormality of the liver	1028	CDKN1C	OMIM:130650
HP:0001392	Abnormality of the liver	10984	KCNQ1OT1	OMIM:130650
HP:0001392	Abnormality of the liver	3481	IGF2	OMIM:130650
HP:0001392	Abnormality of the liver	3784	KCNQ1	OMIM:130650
HP:0001392	Abnormality of the liver	9652	SKIC3	ORPHA:84064
HP:0001392	Abnormality of the liver	6499	SKIC2	ORPHA:84064
HP:0001392	Abnormality of the liver	6597	SMARCA4	ORPHA:1465
HP:0001392	Abnormality of the liver	6598	SMARCB1	ORPHA:1465
HP:0001392	Abnormality of the liver	6659	SOX4	ORPHA:1465
HP:0001392	Abnormality of the liver	8289	ARID1A	ORPHA:1465
HP:0001392	Abnormality of the liver	5977	DPF2	ORPHA:1465
HP:0001392	Abnormality of the liver	6601	SMARCC2	ORPHA:1465
HP:0001392	Abnormality of the liver	6602	SMARCD1	ORPHA:1465
HP:0001392	Abnormality of the liver	57492	ARID1B	ORPHA:1465
HP:0001392	Abnormality of the liver	196528	ARID2	ORPHA:1465
HP:0001392	Abnormality of the liver	6605	SMARCE1	ORPHA:1465
HP:0001392	Abnormality of the liver	6664	SOX11	ORPHA:1465
HP:0001392	Abnormality of the liver	26040	SETBP1	OMIM:269150
HP:0001392	Abnormality of the liver	26040	SETBP1	ORPHA:798
HP:0001392	Abnormality of the liver	388015	RTL1	ORPHA:96334
HP:0001392	Abnormality of the liver	8788	DLK1	ORPHA:96334
HP:0001392	Abnormality of the liver	55384	MEG3	ORPHA:96334
HP:0001392	Abnormality of the liver	199221	DZIP1L	ORPHA:731
HP:0001392	Abnormality of the liver	4292	MLH1	ORPHA:587
HP:0001392	Abnormality of the liver	2956	MSH6	ORPHA:587
HP:0001392	Abnormality of the liver	4436	MSH2	ORPHA:587
HP:0001392	Abnormality of the liver	6609	SMPD1	ORPHA:77293
HP:0001392	Abnormality of the liver	65998	ZFTA	ORPHA:251636
HP:0001392	Abnormality of the liver	5970	RELA	ORPHA:251636
HP:0001392	Abnormality of the liver	4665	NAB2	ORPHA:2126
HP:0001392	Abnormality of the liver	6778	STAT6	ORPHA:2126
HP:0001392	Abnormality of the liver	56623	INPP5E	ORPHA:1454
HP:0001392	Abnormality of the liver	91147	TMEM67	ORPHA:1454
HP:0001392	Abnormality of the liver	23322	RPGRIP1L	ORPHA:1454
HP:0001392	Abnormality of the liver	57545	CC2D2A	ORPHA:1454
HP:0001392	Abnormality of the liver	672	BRCA1	ORPHA:1333
HP:0001392	Abnormality of the liver	285282	RABL3	ORPHA:1333
HP:0001392	Abnormality of the liver	7157	TP53	ORPHA:1333
HP:0001392	Abnormality of the liver	675	BRCA2	ORPHA:1333
HP:0001392	Abnormality of the liver	675	BRCA2	ORPHA:654
HP:0001392	Abnormality of the liver	3845	KRAS	ORPHA:1333
HP:0001392	Abnormality of the liver	1029	CDKN2A	ORPHA:1333
HP:0001392	Abnormality of the liver	79728	PALB2	ORPHA:1333
HP:0001392	Abnormality of the liver	4089	SMAD4	ORPHA:1333
HP:0001392	Abnormality of the liver	23022	PALLD	ORPHA:1333
HP:0001392	Abnormality of the liver	5978	REST	ORPHA:654
HP:0001392	Abnormality of the liver	129563	DIS3L2	ORPHA:654
HP:0001392	Abnormality of the liver	9319	TRIP13	ORPHA:654
HP:0001392	Abnormality of the liver	7490	WT1	ORPHA:654
HP:0001392	Abnormality of the liver	10155	TRIM28	ORPHA:654
HP:0001392	Abnormality of the liver	11281	POU6F2	ORPHA:654
HP:0001392	Abnormality of the liver	2719	GPC3	ORPHA:654
HP:0001392	Abnormality of the liver	283120	H19	ORPHA:654
HP:0001392	Abnormality of the liver	10068	IL18BP	OMIM:618549
HP:0001392	Abnormality of the liver	3875	KRT18	OMIM:215600
HP:0001392	Abnormality of the liver	331	XIAP	OMIM:308240
HP:0001392	Abnormality of the liver	4068	SH2D1A	OMIM:308240
HP:0001392	Abnormality of the liver	9401	RECQL4	OMIM:218600
HP:0001392	Abnormality of the liver	9361	LONP1	ORPHA:1458
HP:0001392	Abnormality of the liver	26123	TCTN3	OMIM:614815
HP:0001392	Abnormality of the liver	6794	STK11	ORPHA:2869
HP:0001392	Abnormality of the liver	1717	DHCR7	ORPHA:818
HP:0001392	Abnormality of the liver	10815	CPLX1	ORPHA:280
HP:0001392	Abnormality of the liver	54872	PIGG	ORPHA:280
HP:0001392	Abnormality of the liver	7469	NELFA	ORPHA:280
HP:0001392	Abnormality of the liver	1487	CTBP1	ORPHA:280
HP:0001392	Abnormality of the liver	3954	LETM1	ORPHA:280
HP:0001392	Abnormality of the liver	7468	NSD2	ORPHA:280
HP:0001392	Abnormality of the liver	2517	FUCA1	ORPHA:349
HP:0001392	Abnormality of the liver	3239	HOXD13	ORPHA:887
HP:0001392	Abnormality of the liver	145173	B3GLCT	OMIM:261540
HP:0001392	Abnormality of the liver	5167	ENPP1	ORPHA:51608
HP:0001392	Abnormality of the liver	368	ABCC6	ORPHA:51608
HP:0001392	Abnormality of the liver	80776	B9D2	OMIM:614175
HP:0001392	Abnormality of the liver	8312	AXIN1	OMIM:114550
HP:0001392	Abnormality of the liver	5290	PIK3CA	OMIM:114550
HP:0001392	Abnormality of the liver	841	CASP8	OMIM:114550
HP:0001392	Abnormality of the liver	5157	PDGFRL	OMIM:114550
HP:0001392	Abnormality of the liver	3482	IGF2R	OMIM:114550
HP:0001392	Abnormality of the liver	56922	MCCC1	OMIM:210200
HP:0001392	Abnormality of the liver	889	KRIT1	OMIM:116860
HP:0001392	Abnormality of the liver	10664	CTCF	ORPHA:363611
HP:0001392	Abnormality of the liver	23446	SLC44A1	OMIM:618868
HP:0001392	Abnormality of the liver	5626	PROP1	ORPHA:226307
HP:0001392	Abnormality of the liver	89884	LHX4	ORPHA:226307
HP:0001392	Abnormality of the liver	8022	LHX3	ORPHA:226307
HP:0001392	Abnormality of the liver	5449	POU1F1	ORPHA:226307
HP:0001392	Abnormality of the liver	5449	POU1F1	OMIM:613038
HP:0001392	Abnormality of the liver	8820	HESX1	ORPHA:226307
HP:0001392	Abnormality of the liver	1593	CYP27A1	ORPHA:909
HP:0001392	Abnormality of the liver	7167	TPI1	OMIM:615512
HP:0001392	Abnormality of the liver	8573	CASK	OMIM:300908
HP:0001392	Abnormality of the liver	2539	G6PD	OMIM:300908
HP:0001392	Abnormality of the liver	8405	SPOP	OMIM:618828
HP:0001392	Abnormality of the liver	8085	KMT2D	OMIM:620186
HP:0001392	Abnormality of the liver	64324	NSD1	ORPHA:821
HP:0001392	Abnormality of the liver	64324	NSD1	OMIM:117550
HP:0001392	Abnormality of the liver	29072	SETD2	ORPHA:821
HP:0001392	Abnormality of the liver	10297	APC2	ORPHA:821
HP:0001392	Abnormality of the liver	123264	SLC51B	OMIM:619481
HP:0001392	Abnormality of the liver	5631	PRPS1	ORPHA:423479
HP:0001392	Abnormality of the liver	50506	DUOX2	ORPHA:226316
HP:0001392	Abnormality of the liver	50506	DUOX2	ORPHA:95716
HP:0001392	Abnormality of the liver	55904	KMT2E	OMIM:618512
HP:0001392	Abnormality of the liver	25973	PARS2	OMIM:618437
HP:0001392	Abnormality of the liver	11093	ADAMTS13	OMIM:274150
HP:0001392	Abnormality of the liver	7253	TSHR	ORPHA:90673
HP:0001392	Abnormality of the liver	7252	TSHB	ORPHA:90674
HP:0001392	Abnormality of the liver	6554	SLC10A1	OMIM:619256
HP:0001392	Abnormality of the liver	405753	DUOXA2	ORPHA:95716
HP:0001392	Abnormality of the liver	6528	SLC5A5	ORPHA:95716
HP:0001392	Abnormality of the liver	7038	TG	ORPHA:95716
HP:0001392	Abnormality of the liver	7173	TPO	ORPHA:95716
HP:0001392	Abnormality of the liver	389434	IYD	ORPHA:95716
HP:0001392	Abnormality of the liver	7201	TRHR	ORPHA:99832
HP:0001392	Abnormality of the liver	2035	EPB41	ORPHA:288
HP:0001392	Abnormality of the liver	2995	GYPC	ORPHA:288
HP:0001392	Abnormality of the liver	6567	SLC16A2	ORPHA:59
HP:0001392	Abnormality of the liver	2688	GH1	OMIM:262400
HP:0001392	Abnormality of the liver	84153	RNASEH2C	ORPHA:51
HP:0001392	Abnormality of the liver	25939	SAMHD1	ORPHA:51
HP:0001392	Abnormality of the liver	79621	RNASEH2B	ORPHA:51
HP:0001392	Abnormality of the liver	134353	LSM11	ORPHA:51
HP:0001392	Abnormality of the liver	10165	SLC25A13	OMIM:605814
HP:0001392	Abnormality of the liver	55898	UNC45A	OMIM:619377
HP:0001392	Abnormality of the liver	5825	ABCD3	OMIM:616278
HP:0001392	Abnormality of the liver	5256	PHKA2	ORPHA:264580
HP:0001392	Abnormality of the liver	5261	PHKG2	ORPHA:264580
HP:0001392	Abnormality of the liver	132	ADK	OMIM:614300
HP:0001392	Abnormality of the liver	51134	CEP83	OMIM:615862
HP:0001392	Abnormality of the liver	383	ARG1	OMIM:207800
HP:0001392	Abnormality of the liver	57539	WDR35	OMIM:613610
HP:0001392	Abnormality of the liver	4645	MYO5B	OMIM:619868
HP:0001392	Abnormality of the liver	540	ATP7B	OMIM:277900
HP:0001392	Abnormality of the liver	5836	PYGL	ORPHA:369
HP:0001392	Abnormality of the liver	11232	POLG2	OMIM:618528
HP:0001392	Abnormality of the liver	1716	DGUOK	OMIM:251880
HP:0001392	Abnormality of the liver	84314	TMEM107	ORPHA:564
HP:0001392	Abnormality of the liver	79867	TCTN2	ORPHA:564
HP:0001392	Abnormality of the liver	79600	TCTN1	ORPHA:564
HP:0001392	Abnormality of the liver	57096	RPGRIP1	ORPHA:564
HP:0001392	Abnormality of the liver	79848	CSPP1	ORPHA:564
HP:0001392	Abnormality of the liver	51259	TMEM216	ORPHA:564
HP:0001392	Abnormality of the liver	79583	TMEM231	ORPHA:564
HP:0001392	Abnormality of the liver	27077	B9D1	ORPHA:564
HP:0001392	Abnormality of the liver	65062	TMEM237	ORPHA:564
HP:0001392	Abnormality of the liver	2321	FLT1	ORPHA:275555
HP:0001392	Abnormality of the liver	219736	STOX1	ORPHA:275555
HP:0001392	Abnormality of the liver	10699	CORIN	ORPHA:275555
HP:0001392	Abnormality of the liver	2627	GATA6	OMIM:600001
HP:0001392	Abnormality of the liver	2294	FOXF1	ORPHA:210122
HP:0001392	Abnormality of the liver	23019	CNOT1	ORPHA:556955
HP:0001392	Abnormality of the liver	23019	CNOT1	OMIM:618500
HP:0001392	Abnormality of the liver	6651	SON	OMIM:617140
HP:0001392	Abnormality of the liver	6651	SON	ORPHA:500150
HP:0001392	Abnormality of the liver	27152	INTU	OMIM:617925
HP:0001392	Abnormality of the liver	2821	GPI	OMIM:613470
HP:0001392	Abnormality of the liver	5774	PTPN3	ORPHA:70567
HP:0001392	Abnormality of the liver	8462	KLF11	ORPHA:552
HP:0001392	Abnormality of the liver	2645	GCK	ORPHA:552
HP:0001392	Abnormality of the liver	26060	APPL1	ORPHA:552
HP:0001392	Abnormality of the liver	640	BLK	ORPHA:552
HP:0001392	Abnormality of the liver	1056	CEL	ORPHA:552
HP:0001392	Abnormality of the liver	4760	NEUROD1	ORPHA:552
HP:0001392	Abnormality of the liver	3651	PDX1	ORPHA:552
HP:0001392	Abnormality of the liver	5078	PAX4	ORPHA:552
HP:0001392	Abnormality of the liver	3630	INS	ORPHA:552
HP:0001392	Abnormality of the liver	50943	FOXP3	OMIM:304790
HP:0001392	Abnormality of the liver	50943	FOXP3	ORPHA:37042
HP:0001392	Abnormality of the liver	7174	TPP2	ORPHA:444463
HP:0001392	Abnormality of the liver	716	C1S	OMIM:613783
HP:0001392	Abnormality of the liver	6850	SYK	OMIM:619381
HP:0001392	Abnormality of the liver	84818	IL17RC	ORPHA:1334
HP:0001392	Abnormality of the liver	64581	CLEC7A	ORPHA:1334
HP:0001392	Abnormality of the liver	23765	IL17RA	ORPHA:1334
HP:0001392	Abnormality of the liver	10758	TRAF3IP2	ORPHA:1334
HP:0001392	Abnormality of the liver	112744	IL17F	ORPHA:1334
HP:0001392	Abnormality of the liver	54	ACP5	ORPHA:1855
HP:0001392	Abnormality of the liver	6929	TCF3	ORPHA:33110
HP:0001392	Abnormality of the liver	973	CD79A	ORPHA:33110
HP:0001392	Abnormality of the liver	974	CD79B	ORPHA:33110
HP:0001392	Abnormality of the liver	3543	IGLL1	ORPHA:33110
HP:0001392	Abnormality of the liver	3507	IGHM	ORPHA:33110
HP:0001392	Abnormality of the liver	29760	BLNK	ORPHA:33110
HP:0001392	Abnormality of the liver	5295	PIK3R1	ORPHA:33110
HP:0001392	Abnormality of the liver	56262	LRRC8A	ORPHA:33110
HP:0001392	Abnormality of the liver	1027	CDKN1B	ORPHA:276152
HP:0001392	Abnormality of the liver	2642	GCGR	ORPHA:438274
HP:0001392	Abnormality of the liver	3043	HBB	ORPHA:231222
HP:0001392	Abnormality of the liver	55240	STEAP3	ORPHA:300298
HP:0001392	Abnormality of the liver	55240	STEAP3	OMIM:615234
HP:0001392	Abnormality of the liver	2512	FTL	ORPHA:254704
HP:0001392	Abnormality of the liver	51218	GLRX5	OMIM:616860
HP:0001392	Abnormality of the liver	5277	PIGA	OMIM:300868
HP:0001392	Abnormality of the liver	54914	FOCAD	OMIM:619991
HP:0001392	Abnormality of the liver	4891	SLC11A2	OMIM:206100
HP:0001392	Abnormality of the liver	1356	CP	ORPHA:48818
HP:0001392	Abnormality of the liver	2495	FTH1	OMIM:615517
HP:0001392	Abnormality of the liver	10667	FARS2	OMIM:614946
HP:0001392	Abnormality of the liver	617	BCS1L	ORPHA:53693
HP:0001392	Abnormality of the liver	654	BMP6	OMIM:620121
HP:0001392	Abnormality of the liver	7289	TULP3	OMIM:619902
HP:0001392	Abnormality of the liver	3988	LIPA	OMIM:278000
HP:0001392	Abnormality of the liver	54532	USP53	OMIM:619658
HP:0001392	Abnormality of the liver	57410	SCYL1	OMIM:616719
HP:0001392	Abnormality of the liver	9420	CYP7B1	OMIM:613812
HP:0001392	Abnormality of the liver	60561	RINT1	OMIM:618641
HP:0001392	Abnormality of the liver	51473	DCDC2	OMIM:617394
HP:0001392	Abnormality of the liver	8772	FADD	OMIM:613759
HP:0001392	Abnormality of the liver	537	ATP6AP1	OMIM:300972
HP:0001392	Abnormality of the liver	113220	KIF12	OMIM:619662
HP:0001392	Abnormality of the liver	26525	IL36RN	OMIM:614204
HP:0001392	Abnormality of the liver	462	SERPINC1	ORPHA:82
HP:0001392	Abnormality of the liver	5994	RFXAP	ORPHA:572
HP:0001392	Abnormality of the liver	4261	CIITA	ORPHA:572
HP:0001392	Abnormality of the liver	5993	RFX5	ORPHA:572
HP:0001392	Abnormality of the liver	8625	RFXANK	ORPHA:572
HP:0001392	Abnormality of the liver	5966	REL	OMIM:619652
HP:0001392	Abnormality of the liver	959	CD40LG	OMIM:308230
HP:0001392	Abnormality of the liver	1387	CREBBP	OMIM:180849
HP:0001392	Abnormality of the liver	2033	EP300	OMIM:180849
HP:0001392	Abnormality of the liver	595	CCND1	OMIM:193300
HP:0001392	Abnormality of the liver	7428	VHL	OMIM:193300
HP:0001392	Abnormality of the liver	3716	JAK1	OMIM:618999
HP:0001392	Abnormality of the liver	84342	COG8	OMIM:611182
HP:0001392	Abnormality of the liver	93	ACVR2B	OMIM:613751
HP:0001392	Abnormality of the liver	10112	KIF20A	OMIM:619433
HP:0001392	Abnormality of the liver	1536	CYBB	OMIM:306400
HP:0001392	Abnormality of the liver	1536	CYBB	ORPHA:379
HP:0001392	Abnormality of the liver	5244	ABCB4	ORPHA:69663
HP:0001392	Abnormality of the liver	4688	NCF2	OMIM:233710
HP:0001392	Abnormality of the liver	4688	NCF2	ORPHA:379
HP:0001392	Abnormality of the liver	653361	NCF1	OMIM:233700
HP:0001392	Abnormality of the liver	653361	NCF1	ORPHA:379
HP:0001392	Abnormality of the liver	1535	CYBA	OMIM:233690
HP:0001392	Abnormality of the liver	1535	CYBA	ORPHA:379
HP:0001392	Abnormality of the liver	51135	IRAK4	OMIM:607676
HP:0001392	Abnormality of the liver	3514	IGKC	ORPHA:183675
HP:0001392	Abnormality of the liver	3501	IGHG2	ORPHA:183675
HP:0001392	Abnormality of the liver	4689	NCF4	ORPHA:379
HP:0001392	Abnormality of the liver	79415	CYBC1	ORPHA:379
HP:0001392	Abnormality of the liver	5314	PKHD1	ORPHA:53035
HP:0001392	Abnormality of the liver	1075	CTSC	ORPHA:678
HP:0001392	Abnormality of the liver	54894	RNF43	ORPHA:157798
HP:0001392	Abnormality of the liver	410	ARSA	ORPHA:309271
HP:0001392	Abnormality of the liver	168667	BMPER	OMIM:608022
HP:0001392	Abnormality of the liver	5297	PI4KA	ORPHA:436252
HP:0001392	Abnormality of the liver	57217	TTC7A	ORPHA:436252
HP:0001392	Abnormality of the liver	11198	SUPT16H	OMIM:619480
HP:0001392	Abnormality of the liver	8239	USP9X	ORPHA:480880
HP:0001392	Abnormality of the liver	10166	SLC25A15	OMIM:238970
HP:0001392	Abnormality of the liver	721	C4B	OMIM:614379
HP:0001392	Abnormality of the liver	326	AIRE	OMIM:240300
HP:0001392	Abnormality of the liver	745	MYRF	OMIM:618280
HP:0001392	Abnormality of the liver	6514	SLC2A2	ORPHA:2088
HP:0001394	Cirrhosis	94	ACVRL1	OMIM:600376
HP:0001394	Cirrhosis	94	ACVRL1	ORPHA:774
HP:0001394	Cirrhosis	30061	SLC40A1	ORPHA:139491
HP:0001394	Cirrhosis	30061	SLC40A1	OMIM:606069
HP:0001394	Cirrhosis	229	ALDOB	OMIM:229600
HP:0001394	Cirrhosis	2632	GBE1	OMIM:232500
HP:0001394	Cirrhosis	9414	TJP2	OMIM:615878
HP:0001394	Cirrhosis	3875	KRT18	OMIM:215600
HP:0001394	Cirrhosis	1736	DKC1	OMIM:305000
HP:0001394	Cirrhosis	1736	DKC1	ORPHA:1775
HP:0001394	Cirrhosis	148738	HJV	OMIM:602390
HP:0001394	Cirrhosis	959	CD40LG	OMIM:308230
HP:0001394	Cirrhosis	80270	HSD3B7	ORPHA:79301
HP:0001394	Cirrhosis	80270	HSD3B7	OMIM:607765
HP:0001394	Cirrhosis	5314	PKHD1	ORPHA:53035
HP:0001394	Cirrhosis	9420	CYP7B1	ORPHA:79302
HP:0001394	Cirrhosis	9420	CYP7B1	OMIM:613812
HP:0001394	Cirrhosis	91147	TMEM67	OMIM:216360
HP:0001394	Cirrhosis	91147	TMEM67	ORPHA:1454
HP:0001394	Cirrhosis	91147	TMEM67	ORPHA:84081
HP:0001394	Cirrhosis	10165	SLC25A13	OMIM:605814
HP:0001394	Cirrhosis	6888	TALDO1	ORPHA:101028
HP:0001394	Cirrhosis	6888	TALDO1	OMIM:606003
HP:0001394	Cirrhosis	2153	F5	OMIM:600880
HP:0001394	Cirrhosis	2153	F5	ORPHA:131
HP:0001394	Cirrhosis	3717	JAK2	OMIM:600880
HP:0001394	Cirrhosis	3717	JAK2	ORPHA:131
HP:0001394	Cirrhosis	26580	BSCL2	ORPHA:363400
HP:0001394	Cirrhosis	26580	BSCL2	OMIM:269700
HP:0001394	Cirrhosis	26580	BSCL2	ORPHA:528
HP:0001394	Cirrhosis	6440	SFTPC	OMIM:178500
HP:0001394	Cirrhosis	727897	MUC5B	OMIM:178500
HP:0001394	Cirrhosis	729238	SFTPA2	OMIM:178500
HP:0001394	Cirrhosis	7015	TERT	OMIM:178500
HP:0001394	Cirrhosis	7015	TERT	OMIM:127550
HP:0001394	Cirrhosis	7015	TERT	OMIM:614742
HP:0001394	Cirrhosis	7015	TERT	ORPHA:1775
HP:0001394	Cirrhosis	162	AP1B1	OMIM:242150
HP:0001394	Cirrhosis	4141	MARS1	OMIM:615486
HP:0001394	Cirrhosis	55651	NHP2	OMIM:613987
HP:0001394	Cirrhosis	55651	NHP2	ORPHA:1775
HP:0001394	Cirrhosis	26277	TINF2	OMIM:127550
HP:0001394	Cirrhosis	26277	TINF2	ORPHA:1775
HP:0001394	Cirrhosis	7012	TERC	OMIM:127550
HP:0001394	Cirrhosis	7012	TERC	OMIM:614743
HP:0001394	Cirrhosis	7012	TERC	ORPHA:1775
HP:0001394	Cirrhosis	3930	LBR	ORPHA:779
HP:0001394	Cirrhosis	5428	POLG	ORPHA:298
HP:0001394	Cirrhosis	1890	TYMP	ORPHA:298
HP:0001394	Cirrhosis	3980	LIG3	ORPHA:298
HP:0001394	Cirrhosis	50484	RRM2B	ORPHA:298
HP:0001394	Cirrhosis	25839	COG4	ORPHA:263501
HP:0001394	Cirrhosis	25839	COG4	OMIM:613489
HP:0001394	Cirrhosis	2022	ENG	OMIM:187300
HP:0001394	Cirrhosis	2022	ENG	ORPHA:774
HP:0001394	Cirrhosis	2212	FCGR2A	OMIM:219700
HP:0001394	Cirrhosis	7040	TGFB1	OMIM:219700
HP:0001394	Cirrhosis	7040	TGFB1	ORPHA:586
HP:0001394	Cirrhosis	1080	CFTR	OMIM:219700
HP:0001394	Cirrhosis	1080	CFTR	ORPHA:586
HP:0001394	Cirrhosis	6609	SMPD1	ORPHA:77293
HP:0001394	Cirrhosis	8647	ABCB11	OMIM:601847
HP:0001394	Cirrhosis	51473	DCDC2	OMIM:617394
HP:0001394	Cirrhosis	51473	DCDC2	ORPHA:84081
HP:0001394	Cirrhosis	2859	GPR35	ORPHA:171
HP:0001394	Cirrhosis	10507	SEMA4D	ORPHA:171
HP:0001394	Cirrhosis	4485	MST1	ORPHA:171
HP:0001394	Cirrhosis	6925	TCF4	ORPHA:171
HP:0001394	Cirrhosis	537	ATP6AP1	OMIM:300972
HP:0001394	Cirrhosis	51218	GLRX5	OMIM:616860
HP:0001394	Cirrhosis	7019	TFAM	OMIM:617156
HP:0001394	Cirrhosis	348	APOE	OMIM:269600
HP:0001394	Cirrhosis	3988	LIPA	OMIM:278000
HP:0001394	Cirrhosis	3988	LIPA	ORPHA:75234
HP:0001394	Cirrhosis	4358	MPV17	OMIM:256810
HP:0001394	Cirrhosis	5468	PPARG	ORPHA:79083
HP:0001394	Cirrhosis	5468	PPARG	OMIM:604367
HP:0001394	Cirrhosis	5468	PPARG	ORPHA:528
HP:0001394	Cirrhosis	6499	SKIC2	OMIM:614602
HP:0001394	Cirrhosis	6499	SKIC2	ORPHA:84064
HP:0001394	Cirrhosis	5257	PHKB	ORPHA:79240
HP:0001394	Cirrhosis	10555	AGPAT2	OMIM:608594
HP:0001394	Cirrhosis	10555	AGPAT2	ORPHA:528
HP:0001394	Cirrhosis	1717	DHCR7	OMIM:270400
HP:0001394	Cirrhosis	4547	MTTP	ORPHA:14
HP:0001394	Cirrhosis	5277	PIGA	OMIM:300868
HP:0001394	Cirrhosis	57511	COG6	OMIM:614576
HP:0001394	Cirrhosis	7289	TULP3	OMIM:619902
HP:0001394	Cirrhosis	56623	INPP5E	ORPHA:1454
HP:0001394	Cirrhosis	23322	RPGRIP1L	ORPHA:1454
HP:0001394	Cirrhosis	57545	CC2D2A	ORPHA:1454
HP:0001394	Cirrhosis	9971	NR1H4	OMIM:617049
HP:0001394	Cirrhosis	1174	AP1S1	OMIM:609313
HP:0001394	Cirrhosis	3077	HFE	OMIM:235200
HP:0001394	Cirrhosis	3077	HFE	ORPHA:586
HP:0001394	Cirrhosis	3077	HFE	ORPHA:465508
HP:0001394	Cirrhosis	3077	HFE	OMIM:176100
HP:0001394	Cirrhosis	650	BMP2	OMIM:235200
HP:0001394	Cirrhosis	7840	ALMS1	ORPHA:64
HP:0001394	Cirrhosis	9056	SLC7A7	ORPHA:470
HP:0001394	Cirrhosis	5265	SERPINA1	OMIM:613490
HP:0001394	Cirrhosis	5265	SERPINA1	ORPHA:586
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231214
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231222
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231226
HP:0001394	Cirrhosis	540	ATP7B	ORPHA:905
HP:0001394	Cirrhosis	540	ATP7B	OMIM:277900
HP:0001394	Cirrhosis	2592	GALT	OMIM:230400
HP:0001394	Cirrhosis	5205	ATP8B1	OMIM:211600
HP:0001394	Cirrhosis	10056	FARSB	OMIM:613658
HP:0001394	Cirrhosis	7036	TFR2	OMIM:604250
HP:0001394	Cirrhosis	6804	STX1A	ORPHA:586
HP:0001394	Cirrhosis	2947	GSTM3	ORPHA:586
HP:0001394	Cirrhosis	2729	GCLC	ORPHA:586
HP:0001394	Cirrhosis	1084	CEACAM3	ORPHA:586
HP:0001394	Cirrhosis	6556	SLC11A1	ORPHA:586
HP:0001394	Cirrhosis	51164	DCTN4	ORPHA:586
HP:0001394	Cirrhosis	3783	KCNN4	ORPHA:586
HP:0001394	Cirrhosis	4282	MIF	ORPHA:586
HP:0001394	Cirrhosis	1909	EDNRA	ORPHA:586
HP:0001394	Cirrhosis	6550	SLC9A3	ORPHA:586
HP:0001394	Cirrhosis	3162	HMOX1	ORPHA:586
HP:0001394	Cirrhosis	115019	SLC26A9	ORPHA:586
HP:0001394	Cirrhosis	11254	SLC6A14	ORPHA:586
HP:0001394	Cirrhosis	22802	CLCA4	ORPHA:586
HP:0001394	Cirrhosis	4680	CEACAM6	ORPHA:586
HP:0001394	Cirrhosis	5244	ABCB4	OMIM:602347
HP:0001394	Cirrhosis	3594	IL12RB1	ORPHA:186
HP:0001394	Cirrhosis	23534	TNPO3	ORPHA:186
HP:0001394	Cirrhosis	3592	IL12A	ORPHA:186
HP:0001394	Cirrhosis	6689	SPIB	ORPHA:186
HP:0001394	Cirrhosis	5450	POU2AF1	ORPHA:186
HP:0001394	Cirrhosis	9966	TNFSF15	ORPHA:186
HP:0001394	Cirrhosis	79258	MMEL1	ORPHA:186
HP:0001394	Cirrhosis	3663	IRF5	ORPHA:186
HP:0001394	Cirrhosis	5189	PEX1	OMIM:601539
HP:0001394	Cirrhosis	27031	NPHP3	OMIM:208540
HP:0001394	Cirrhosis	1356	CP	ORPHA:48818
HP:0001394	Cirrhosis	50615	IL21R	OMIM:615207
HP:0001394	Cirrhosis	57570	TRMT5	OMIM:616539
HP:0001394	Cirrhosis	5261	PHKG2	OMIM:613027
HP:0001394	Cirrhosis	5261	PHKG2	ORPHA:264580
HP:0001394	Cirrhosis	182	JAG1	OMIM:118450
HP:0001394	Cirrhosis	3516	RBPJ	ORPHA:974
HP:0001394	Cirrhosis	4851	NOTCH1	ORPHA:974
HP:0001394	Cirrhosis	57514	ARHGAP31	ORPHA:974
HP:0001394	Cirrhosis	57572	DOCK6	ORPHA:974
HP:0001394	Cirrhosis	285203	EOGT	ORPHA:974
HP:0001394	Cirrhosis	54567	DLL4	ORPHA:974
HP:0001394	Cirrhosis	9968	MED12	OMIM:301068
HP:0001394	Cirrhosis	2658	GDF2	ORPHA:774
HP:0001394	Cirrhosis	4089	SMAD4	ORPHA:774
HP:0001394	Cirrhosis	4351	MPI	OMIM:602579
HP:0001394	Cirrhosis	811	CALR	ORPHA:131
HP:0001394	Cirrhosis	79989	IFT56	OMIM:619534
HP:0001394	Cirrhosis	9652	SKIC3	OMIM:222470
HP:0001394	Cirrhosis	9652	SKIC3	ORPHA:84064
HP:0001394	Cirrhosis	8565	YARS1	OMIM:619418
HP:0001394	Cirrhosis	654	BMP6	ORPHA:465508
HP:0001394	Cirrhosis	57817	HAMP	OMIM:613313
HP:0001394	Cirrhosis	445	ASS1	OMIM:215700
HP:0001394	Cirrhosis	84317	CCDC115	OMIM:616828
HP:0001394	Cirrhosis	2184	FAH	OMIM:276700
HP:0001394	Cirrhosis	83737	ITCH	ORPHA:228426
HP:0001394	Cirrhosis	284119	CAVIN1	ORPHA:528
HP:0001394	Cirrhosis	2353	FOS	ORPHA:528
HP:0001394	Cirrhosis	857	CAV1	ORPHA:528
HP:0001394	Cirrhosis	5836	PYGL	ORPHA:369
HP:0001394	Cirrhosis	617	BCS1L	ORPHA:53693
HP:0001394	Cirrhosis	55532	SLC30A10	OMIM:613280
HP:0001394	Cirrhosis	112752	IFT43	OMIM:614099
HP:0001394	Cirrhosis	5256	PHKA2	ORPHA:264580
HP:0001394	Cirrhosis	113220	KIF12	OMIM:619662
HP:0001394	Cirrhosis	80169	CTC1	ORPHA:1775
HP:0001394	Cirrhosis	79650	USB1	ORPHA:1775
HP:0001394	Cirrhosis	55135	WRAP53	ORPHA:1775
HP:0001394	Cirrhosis	51750	RTEL1	ORPHA:1775
HP:0001394	Cirrhosis	4869	NPM1	ORPHA:1775
HP:0001394	Cirrhosis	55505	NOP10	ORPHA:1775
HP:0001394	Cirrhosis	5073	PARN	ORPHA:1775
HP:0001394	Cirrhosis	7298	TYMS	ORPHA:1775
HP:0001394	Cirrhosis	7389	UROD	OMIM:176100
HP:0001394	Cirrhosis	2235	FECH	ORPHA:79278
HP:0001394	Cirrhosis	2629	GBA1	ORPHA:77259
HP:0001394	Cirrhosis	950	SCARB2	ORPHA:77259
HP:0001394	Cirrhosis	10159	ATP6AP2	OMIM:301045
HP:0001394	Cirrhosis	7157	TP53	OMIM:114550
HP:0001394	Cirrhosis	4233	MET	OMIM:114550
HP:0001394	Cirrhosis	8312	AXIN1	OMIM:114550
HP:0001394	Cirrhosis	5290	PIK3CA	OMIM:114550
HP:0001394	Cirrhosis	841	CASP8	OMIM:114550
HP:0001394	Cirrhosis	5157	PDGFRL	OMIM:114550
HP:0001394	Cirrhosis	3482	IGF2R	OMIM:114550
HP:0001394	Cirrhosis	324	APC	OMIM:114550
HP:0001394	Cirrhosis	1499	CTNNB1	OMIM:114550
HP:0001394	Cirrhosis	11277	TREX1	OMIM:192315
HP:0001394	Cirrhosis	51099	ABHD5	ORPHA:98907
HP:0001394	Cirrhosis	84936	ZFYVE19	OMIM:619849
HP:0001394	Cirrhosis	383	ARG1	OMIM:207800
HP:0001394	Cirrhosis	9371	KIF3B	OMIM:618955
HP:0001394	Cirrhosis	55768	NGLY1	ORPHA:404454
HP:0001394	Cirrhosis	1716	DGUOK	OMIM:251880
HP:0001394	Cirrhosis	5557	PRIM1	OMIM:620005
HP:0001395	Hepatic fibrosis	3376	IARS1	OMIM:617093
HP:0001395	Hepatic fibrosis	3376	IARS1	ORPHA:541423
HP:0001395	Hepatic fibrosis	4750	NEK1	OMIM:263520
HP:0001395	Hepatic fibrosis	26160	IFT172	OMIM:615630
HP:0001395	Hepatic fibrosis	26160	IFT172	ORPHA:110
HP:0001395	Hepatic fibrosis	56623	INPP5E	OMIM:213300
HP:0001395	Hepatic fibrosis	5314	PKHD1	ORPHA:53035
HP:0001395	Hepatic fibrosis	5314	PKHD1	OMIM:263200
HP:0001395	Hepatic fibrosis	5314	PKHD1	ORPHA:731
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:216360
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:607361
HP:0001395	Hepatic fibrosis	91147	TMEM67	ORPHA:84081
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:613550
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:610688
HP:0001395	Hepatic fibrosis	4233	MET	ORPHA:33402
HP:0001395	Hepatic fibrosis	1499	CTNNB1	ORPHA:33402
HP:0001395	Hepatic fibrosis	197131	UBR1	OMIM:243800
HP:0001395	Hepatic fibrosis	4141	MARS1	OMIM:615486
HP:0001395	Hepatic fibrosis	5244	ABCB4	OMIM:600803
HP:0001395	Hepatic fibrosis	169792	GLIS3	OMIM:610199
HP:0001395	Hepatic fibrosis	51473	DCDC2	OMIM:616217
HP:0001395	Hepatic fibrosis	51473	DCDC2	ORPHA:84081
HP:0001395	Hepatic fibrosis	7015	TERT	OMIM:613989
HP:0001395	Hepatic fibrosis	10165	SLC25A13	OMIM:603471
HP:0001395	Hepatic fibrosis	10165	SLC25A13	ORPHA:247585
HP:0001395	Hepatic fibrosis	427	ASAH1	ORPHA:333
HP:0001395	Hepatic fibrosis	2859	GPR35	ORPHA:171
HP:0001395	Hepatic fibrosis	10507	SEMA4D	ORPHA:171
HP:0001395	Hepatic fibrosis	4485	MST1	ORPHA:171
HP:0001395	Hepatic fibrosis	6925	TCF4	ORPHA:171
HP:0001395	Hepatic fibrosis	537	ATP6AP1	OMIM:300972
HP:0001395	Hepatic fibrosis	3643	INSR	OMIM:246200
HP:0001395	Hepatic fibrosis	1777	DNASE2	OMIM:619858
HP:0001395	Hepatic fibrosis	54567	DLL4	OMIM:616589
HP:0001395	Hepatic fibrosis	3988	LIPA	OMIM:278000
HP:0001395	Hepatic fibrosis	10616	RBCK1	OMIM:615895
HP:0001395	Hepatic fibrosis	84100	ARL6	OMIM:209900
HP:0001395	Hepatic fibrosis	84100	ARL6	ORPHA:110
HP:0001395	Hepatic fibrosis	79140	CCDC28B	OMIM:209900
HP:0001395	Hepatic fibrosis	582	BBS1	OMIM:209900
HP:0001395	Hepatic fibrosis	582	BBS1	ORPHA:110
HP:0001395	Hepatic fibrosis	284086	NEK8	OMIM:615415
HP:0001395	Hepatic fibrosis	5257	PHKB	ORPHA:79240
HP:0001395	Hepatic fibrosis	26146	TRAF3IP1	OMIM:616629
HP:0001395	Hepatic fibrosis	55764	IFT122	OMIM:218330
HP:0001395	Hepatic fibrosis	4547	MTTP	ORPHA:14
HP:0001395	Hepatic fibrosis	8772	FADD	ORPHA:306550
HP:0001395	Hepatic fibrosis	27031	NPHP3	OMIM:604387
HP:0001395	Hepatic fibrosis	27031	NPHP3	OMIM:208540
HP:0001395	Hepatic fibrosis	1174	AP1S1	OMIM:609313
HP:0001395	Hepatic fibrosis	5373	PMM2	OMIM:212065
HP:0001395	Hepatic fibrosis	5373	PMM2	ORPHA:79318
HP:0001395	Hepatic fibrosis	7840	ALMS1	ORPHA:64
HP:0001395	Hepatic fibrosis	92482	BBIP1	ORPHA:110
HP:0001395	Hepatic fibrosis	80184	CEP290	ORPHA:110
HP:0001395	Hepatic fibrosis	11020	IFT27	ORPHA:110
HP:0001395	Hepatic fibrosis	49855	SCAPER	ORPHA:110
HP:0001395	Hepatic fibrosis	4867	NPHP1	ORPHA:110
HP:0001395	Hepatic fibrosis	51057	WDPCP	ORPHA:110
HP:0001395	Hepatic fibrosis	27241	BBS9	ORPHA:110
HP:0001395	Hepatic fibrosis	84984	CEP19	ORPHA:110
HP:0001395	Hepatic fibrosis	22954	TRIM32	ORPHA:110
HP:0001395	Hepatic fibrosis	54903	MKS1	ORPHA:110
HP:0001395	Hepatic fibrosis	79738	BBS10	ORPHA:110
HP:0001395	Hepatic fibrosis	123016	TTC8	ORPHA:110
HP:0001395	Hepatic fibrosis	583	BBS2	ORPHA:110
HP:0001395	Hepatic fibrosis	585	BBS4	ORPHA:110
HP:0001395	Hepatic fibrosis	8195	MKKS	ORPHA:110
HP:0001395	Hepatic fibrosis	54585	LZTFL1	ORPHA:110
HP:0001395	Hepatic fibrosis	55212	BBS7	ORPHA:110
HP:0001395	Hepatic fibrosis	166379	BBS12	ORPHA:110
HP:0001395	Hepatic fibrosis	10806	SDCCAG8	ORPHA:110
HP:0001395	Hepatic fibrosis	157657	CFAP418	ORPHA:110
HP:0001395	Hepatic fibrosis	129880	BBS5	ORPHA:110
HP:0001395	Hepatic fibrosis	80173	IFT74	ORPHA:110
HP:0001395	Hepatic fibrosis	55768	NGLY1	OMIM:615273
HP:0001395	Hepatic fibrosis	3043	HBB	ORPHA:231214
HP:0001395	Hepatic fibrosis	3043	HBB	ORPHA:231226
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:612285
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:619111
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:612284
HP:0001395	Hepatic fibrosis	55651	NHP2	OMIM:224230
HP:0001395	Hepatic fibrosis	55505	NOP10	OMIM:224230
HP:0001395	Hepatic fibrosis	435	ASL	OMIM:207900
HP:0001395	Hepatic fibrosis	79770	TXNDC15	OMIM:619879
HP:0001395	Hepatic fibrosis	5346	PLIN1	ORPHA:280356
HP:0001395	Hepatic fibrosis	3594	IL12RB1	ORPHA:186
HP:0001395	Hepatic fibrosis	23534	TNPO3	ORPHA:186
HP:0001395	Hepatic fibrosis	3592	IL12A	ORPHA:186
HP:0001395	Hepatic fibrosis	6689	SPIB	ORPHA:186
HP:0001395	Hepatic fibrosis	5450	POU2AF1	ORPHA:186
HP:0001395	Hepatic fibrosis	9966	TNFSF15	ORPHA:186
HP:0001395	Hepatic fibrosis	79258	MMEL1	ORPHA:186
HP:0001395	Hepatic fibrosis	3663	IRF5	ORPHA:186
HP:0001395	Hepatic fibrosis	100147744	RNU7-1	OMIM:619487
HP:0001395	Hepatic fibrosis	79991	STN1	OMIM:617341
HP:0001395	Hepatic fibrosis	5189	PEX1	OMIM:601539
HP:0001395	Hepatic fibrosis	1356	CP	ORPHA:48818
HP:0001395	Hepatic fibrosis	8481	OFD1	OMIM:311200
HP:0001395	Hepatic fibrosis	9371	KIF3B	OMIM:618955
HP:0001395	Hepatic fibrosis	199221	DZIP1L	ORPHA:731
HP:0001395	Hepatic fibrosis	9968	MED12	OMIM:301068
HP:0001395	Hepatic fibrosis	9076	CLDN1	OMIM:607626
HP:0001395	Hepatic fibrosis	4351	MPI	ORPHA:79319
HP:0001395	Hepatic fibrosis	4351	MPI	OMIM:602579
HP:0001395	Hepatic fibrosis	51651	PTRH2	OMIM:616263
HP:0001395	Hepatic fibrosis	2819	GPD1	OMIM:614480
HP:0001395	Hepatic fibrosis	55898	UNC45A	OMIM:619377
HP:0001395	Hepatic fibrosis	2629	GBA1	ORPHA:2072
HP:0001395	Hepatic fibrosis	79989	IFT56	OMIM:619534
HP:0001395	Hepatic fibrosis	9652	SKIC3	OMIM:222470
HP:0001395	Hepatic fibrosis	9652	SKIC3	ORPHA:84064
HP:0001395	Hepatic fibrosis	178	AGL	OMIM:232400
HP:0001395	Hepatic fibrosis	57817	HAMP	OMIM:613313
HP:0001395	Hepatic fibrosis	5557	PRIM1	OMIM:620005
HP:0001395	Hepatic fibrosis	54532	USP53	OMIM:619658
HP:0001395	Hepatic fibrosis	57410	SCYL1	ORPHA:466794
HP:0001395	Hepatic fibrosis	57410	SCYL1	OMIM:616719
HP:0001395	Hepatic fibrosis	8813	DPM1	ORPHA:79322
HP:0001395	Hepatic fibrosis	5836	PYGL	ORPHA:369
HP:0001395	Hepatic fibrosis	57539	WDR35	OMIM:614091
HP:0001395	Hepatic fibrosis	9742	IFT140	OMIM:266920
HP:0001395	Hepatic fibrosis	5825	ABCD3	OMIM:616278
HP:0001395	Hepatic fibrosis	5256	PHKA2	ORPHA:264580
HP:0001395	Hepatic fibrosis	5261	PHKG2	ORPHA:264580
HP:0001395	Hepatic fibrosis	113220	KIF12	OMIM:619662
HP:0001395	Hepatic fibrosis	6499	SKIC2	ORPHA:84064
HP:0001395	Hepatic fibrosis	6888	TALDO1	OMIM:606003
HP:0001395	Hepatic fibrosis	79796	ALG9	ORPHA:79328
HP:0001395	Hepatic fibrosis	79796	ALG9	OMIM:263210
HP:0001395	Hepatic fibrosis	123264	SLC51B	OMIM:619481
HP:0001395	Hepatic fibrosis	203286	ANKS6	OMIM:615382
HP:0001395	Hepatic fibrosis	37	ACADVL	OMIM:201475
HP:0001395	Hepatic fibrosis	200931	SLC51A	OMIM:619484
HP:0001395	Hepatic fibrosis	617	BCS1L	OMIM:124000
HP:0001395	Hepatic fibrosis	1716	DGUOK	OMIM:251880
HP:0001395	Hepatic fibrosis	84314	TMEM107	ORPHA:564
HP:0001395	Hepatic fibrosis	26123	TCTN3	ORPHA:564
HP:0001395	Hepatic fibrosis	79867	TCTN2	ORPHA:564
HP:0001395	Hepatic fibrosis	80776	B9D2	ORPHA:564
HP:0001395	Hepatic fibrosis	79600	TCTN1	ORPHA:564
HP:0001395	Hepatic fibrosis	57096	RPGRIP1	ORPHA:564
HP:0001395	Hepatic fibrosis	79848	CSPP1	ORPHA:564
HP:0001395	Hepatic fibrosis	51259	TMEM216	ORPHA:564
HP:0001395	Hepatic fibrosis	79583	TMEM231	ORPHA:564
HP:0001395	Hepatic fibrosis	27077	B9D1	ORPHA:564
HP:0001395	Hepatic fibrosis	23322	RPGRIP1L	ORPHA:564
HP:0001395	Hepatic fibrosis	23322	RPGRIP1L	ORPHA:1454
HP:0001395	Hepatic fibrosis	65062	TMEM237	ORPHA:564
HP:0001395	Hepatic fibrosis	55112	DYNC2I1	ORPHA:93271
HP:0001395	Hepatic fibrosis	57560	IFT80	ORPHA:93271
HP:0001395	Hepatic fibrosis	79659	DYNC2H1	ORPHA:93271
HP:0001395	Hepatic fibrosis	89891	DYNC2I2	ORPHA:93271
HP:0001395	Hepatic fibrosis	30061	SLC40A1	ORPHA:139491
HP:0001395	Hepatic fibrosis	10908	PNPLA6	ORPHA:2377
HP:0001395	Hepatic fibrosis	148738	HJV	ORPHA:79230
HP:0001395	Hepatic fibrosis	9657	IQCB1	ORPHA:3156
HP:0001395	Hepatic fibrosis	27130	INVS	ORPHA:3156
HP:0001395	Hepatic fibrosis	261734	NPHP4	ORPHA:3156
HP:0001395	Hepatic fibrosis	57728	WDR19	ORPHA:3156
HP:0001395	Hepatic fibrosis	22897	CEP164	ORPHA:3156
HP:0001395	Hepatic fibrosis	3516	RBPJ	ORPHA:974
HP:0001395	Hepatic fibrosis	4851	NOTCH1	ORPHA:974
HP:0001395	Hepatic fibrosis	57514	ARHGAP31	ORPHA:974
HP:0001395	Hepatic fibrosis	57572	DOCK6	ORPHA:974
HP:0001395	Hepatic fibrosis	285203	EOGT	ORPHA:974
HP:0001395	Hepatic fibrosis	7289	TULP3	OMIM:619902
HP:0001395	Hepatic fibrosis	9420	CYP7B1	OMIM:613812
HP:0001395	Hepatic fibrosis	60561	RINT1	OMIM:618641
HP:0001396	Cholestasis	3561	IL2RG	ORPHA:276
HP:0001396	Cholestasis	229	ALDOB	OMIM:229600
HP:0001396	Cholestasis	229	ALDOB	ORPHA:469
HP:0001396	Cholestasis	55532	SLC30A10	ORPHA:309854
HP:0001396	Cholestasis	8573	CASK	OMIM:300908
HP:0001396	Cholestasis	2539	G6PD	OMIM:300908
HP:0001396	Cholestasis	3048	HBG2	OMIM:613977
HP:0001396	Cholestasis	5830	PEX5	OMIM:214110
HP:0001396	Cholestasis	5830	PEX5	ORPHA:912
HP:0001396	Cholestasis	2038	EPB42	ORPHA:822
HP:0001396	Cholestasis	2038	EPB42	OMIM:612690
HP:0001396	Cholestasis	6708	SPTA1	ORPHA:822
HP:0001396	Cholestasis	6708	SPTA1	ORPHA:288
HP:0001396	Cholestasis	286	ANK1	ORPHA:822
HP:0001396	Cholestasis	286	ANK1	OMIM:182900
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:143500
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:237900
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:606785
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:218800
HP:0001396	Cholestasis	55687	TRMU	OMIM:613070
HP:0001396	Cholestasis	8942	KYNU	OMIM:236800
HP:0001396	Cholestasis	1716	DGUOK	OMIM:251880
HP:0001396	Cholestasis	2035	EPB41	ORPHA:288
HP:0001396	Cholestasis	2035	EPB41	OMIM:611804
HP:0001396	Cholestasis	2995	GYPC	ORPHA:288
HP:0001396	Cholestasis	1130	LYST	ORPHA:167
HP:0001396	Cholestasis	1130	LYST	OMIM:214500
HP:0001396	Cholestasis	5313	PKLR	OMIM:266200
HP:0001396	Cholestasis	63894	VIPAS39	OMIM:613404
HP:0001396	Cholestasis	4645	MYO5B	OMIM:619868
HP:0001396	Cholestasis	2313	FLI1	ORPHA:370348
HP:0001396	Cholestasis	1244	ABCC2	ORPHA:234
HP:0001396	Cholestasis	1244	ABCC2	OMIM:237500
HP:0001396	Cholestasis	51594	NBAS	OMIM:616483
HP:0001396	Cholestasis	5311	PKD2	OMIM:613095
HP:0001396	Cholestasis	10068	IL18BP	OMIM:618549
HP:0001396	Cholestasis	540	ATP7B	ORPHA:905
HP:0001396	Cholestasis	540	ATP7B	OMIM:277900
HP:0001396	Cholestasis	5265	SERPINA1	ORPHA:60
HP:0001396	Cholestasis	5428	POLG	OMIM:203700
HP:0001396	Cholestasis	5551	PRF1	OMIM:603553
HP:0001396	Cholestasis	5551	PRF1	ORPHA:540
HP:0001396	Cholestasis	8676	STX11	OMIM:603552
HP:0001396	Cholestasis	8676	STX11	ORPHA:540
HP:0001396	Cholestasis	9971	NR1H4	ORPHA:69665
HP:0001396	Cholestasis	9971	NR1H4	OMIM:617049
HP:0001396	Cholestasis	55670	PEX26	OMIM:614872
HP:0001396	Cholestasis	55670	PEX26	ORPHA:912
HP:0001396	Cholestasis	9409	PEX16	OMIM:614876
HP:0001396	Cholestasis	9409	PEX16	ORPHA:912
HP:0001396	Cholestasis	2729	GCLC	ORPHA:33574
HP:0001396	Cholestasis	91949	COG7	ORPHA:79333
HP:0001396	Cholestasis	91949	COG7	OMIM:608779
HP:0001396	Cholestasis	811	CALR	ORPHA:131
HP:0001396	Cholestasis	3717	JAK2	ORPHA:131
HP:0001396	Cholestasis	2153	F5	ORPHA:131
HP:0001396	Cholestasis	11330	CTRC	ORPHA:103918
HP:0001396	Cholestasis	11330	CTRC	ORPHA:676
HP:0001396	Cholestasis	6690	SPINK1	ORPHA:103918
HP:0001396	Cholestasis	6690	SPINK1	ORPHA:676
HP:0001396	Cholestasis	5213	PFKM	OMIM:232800
HP:0001396	Cholestasis	29929	ALG6	ORPHA:79320
HP:0001396	Cholestasis	5825	ABCD3	OMIM:616278
HP:0001396	Cholestasis	27429	HTRA2	OMIM:617248
HP:0001396	Cholestasis	5824	PEX19	ORPHA:912
HP:0001396	Cholestasis	8504	PEX3	ORPHA:912
HP:0001396	Cholestasis	8799	PEX11B	ORPHA:912
HP:0001396	Cholestasis	5190	PEX6	ORPHA:912
HP:0001396	Cholestasis	5189	PEX1	ORPHA:912
HP:0001396	Cholestasis	5193	PEX12	ORPHA:912
HP:0001396	Cholestasis	5194	PEX13	ORPHA:912
HP:0001396	Cholestasis	5192	PEX10	ORPHA:912
HP:0001396	Cholestasis	6006	RHCE	ORPHA:71275
HP:0001396	Cholestasis	6007	RHD	ORPHA:71275
HP:0001396	Cholestasis	10159	ATP6AP2	OMIM:301045
HP:0001396	Cholestasis	3155	HMGCL	ORPHA:20
HP:0001396	Cholestasis	7167	TPI1	OMIM:615512
HP:0001396	Cholestasis	763	CA5A	OMIM:615751
HP:0001396	Cholestasis	84529	CDIN1	OMIM:615631
HP:0001396	Cholestasis	1798	DPAGT1	OMIM:608093
HP:0001396	Cholestasis	3875	KRT18	OMIM:215600
HP:0001396	Cholestasis	4023	LPL	OMIM:238600
HP:0001396	Cholestasis	201294	UNC13D	ORPHA:540
HP:0001396	Cholestasis	6813	STXBP2	ORPHA:540
HP:0001396	Cholestasis	5774	PTPN3	ORPHA:70567
HP:0001396	Cholestasis	11093	ADAMTS13	OMIM:274150
HP:0001396	Cholestasis	6513	SLC2A1	OMIM:608885
HP:0001396	Cholestasis	6513	SLC2A1	ORPHA:168577
HP:0001396	Cholestasis	7849	PAX8	ORPHA:95720
HP:0001396	Cholestasis	7849	PAX8	ORPHA:95712
HP:0001396	Cholestasis	7253	TSHR	ORPHA:95720
HP:0001396	Cholestasis	5172	SLC26A4	ORPHA:95720
HP:0001396	Cholestasis	2592	GALT	ORPHA:79239
HP:0001396	Cholestasis	51218	GLRX5	OMIM:616860
HP:0001396	Cholestasis	2821	GPI	OMIM:613470
HP:0001396	Cholestasis	8260	NAA10	OMIM:300855
HP:0001396	Cholestasis	3431	SP110	ORPHA:79124
HP:0001396	Cholestasis	1482	NKX2-5	ORPHA:95712
HP:0001396	Cholestasis	5277	PIGA	ORPHA:447
HP:0001396	Cholestasis	7289	TULP3	OMIM:619902
HP:0001396	Cholestasis	84701	COX4I2	OMIM:612714
HP:0001396	Cholestasis	9493	KIF23	OMIM:105600
HP:0001396	Cholestasis	5873	RAB27A	ORPHA:79477
HP:0001396	Cholestasis	5644	PRSS1	ORPHA:676
HP:0001396	Cholestasis	5645	PRSS2	ORPHA:676
HP:0001396	Cholestasis	846	CASR	ORPHA:676
HP:0001396	Cholestasis	1080	CFTR	ORPHA:676
HP:0001396	Cholestasis	1357	CPA1	ORPHA:676
HP:0001396	Cholestasis	570	BAAT	OMIM:619232
HP:0001396	Cholestasis	6711	SPTBN1	OMIM:619475
HP:0001396	Cholestasis	6928	HNF1B	ORPHA:93111
HP:0001396	Cholestasis	286410	ATP11C	OMIM:301015
HP:0001396	Cholestasis	3594	IL12RB1	ORPHA:186
HP:0001396	Cholestasis	23534	TNPO3	ORPHA:186
HP:0001396	Cholestasis	3592	IL12A	ORPHA:186
HP:0001396	Cholestasis	6689	SPIB	ORPHA:186
HP:0001396	Cholestasis	5450	POU2AF1	ORPHA:186
HP:0001396	Cholestasis	9966	TNFSF15	ORPHA:186
HP:0001396	Cholestasis	79258	MMEL1	ORPHA:186
HP:0001396	Cholestasis	3663	IRF5	ORPHA:186
HP:0001396	Cholestasis	10483	SEC23B	OMIM:224100
HP:0001396	Cholestasis	51124	IER3IP1	OMIM:614231
HP:0001396	Cholestasis	3098	HK1	OMIM:235700
HP:0001396	Cholestasis	226	ALDOA	OMIM:611881
HP:0001396	Cholestasis	100506658	OCLN	OMIM:251290
HP:0001396	Cholestasis	2215	FCGR3B	ORPHA:464370
HP:0001396	Cholestasis	10577	NPC2	OMIM:607625
HP:0001396	Cholestasis	7390	UROS	OMIM:263700
HP:0001396	Cholestasis	5449	POU1F1	OMIM:613038
HP:0001396	Cholestasis	25974	MMACHC	ORPHA:79282
HP:0001396	Cholestasis	1371	CPOX	OMIM:121300
HP:0001396	Cholestasis	1719	DHFR	OMIM:613839
HP:0001396	Cholestasis	9451	EIF2AK3	ORPHA:1667
HP:0001396	Cholestasis	37	ACADVL	ORPHA:26793
HP:0001396	Cholestasis	2108	ETFA	OMIM:231680
HP:0001396	Cholestasis	2109	ETFB	OMIM:231680
HP:0001396	Cholestasis	2110	ETFDH	OMIM:231680
HP:0001396	Cholestasis	3988	LIPA	ORPHA:75234
HP:0001396	Cholestasis	2582	GALE	OMIM:230350
HP:0001396	Cholestasis	5205	ATP8B1	OMIM:243300
HP:0001396	Cholestasis	8647	ABCB11	OMIM:601847
HP:0001396	Cholestasis	28234	SLCO1B3	ORPHA:3111
HP:0001396	Cholestasis	10599	SLCO1B1	ORPHA:3111
HP:0001396	Cholestasis	6710	SPTB	OMIM:617948
HP:0001396	Cholestasis	6521	SLC4A1	ORPHA:3202
HP:0001396	Cholestasis	9780	PIEZO1	ORPHA:3202
HP:0001396	Cholestasis	3783	KCNN4	ORPHA:3202
HP:0001396	Cholestasis	6005	RHAG	ORPHA:3203
HP:0001396	Cholestasis	3043	HBB	ORPHA:232
HP:0001396	Cholestasis	538	ATP7A	ORPHA:198
HP:0001396	Cholestasis	5122	PCSK1	ORPHA:71528
HP:0001396	Cholestasis	222546	RFX6	OMIM:615710
HP:0001396	Cholestasis	26160	IFT172	OMIM:615630
HP:0001396	Cholestasis	132	ADK	OMIM:614300
HP:0001396	Cholestasis	5828	PEX2	OMIM:614866
HP:0001396	Cholestasis	85476	GFM1	OMIM:609060
HP:0001396	Cholestasis	57539	WDR35	OMIM:613610
HP:0001396	Cholestasis	5443	POMC	ORPHA:71526
HP:0001396	Cholestasis	5443	POMC	OMIM:609734
HP:0001396	Cholestasis	3032	HADHB	ORPHA:746
HP:0001396	Cholestasis	3030	HADHA	ORPHA:746
HP:0001396	Cholestasis	3030	HADHA	OMIM:609015
HP:0001396	Cholestasis	10056	FARSB	OMIM:613658
HP:0001396	Cholestasis	5314	PKHD1	ORPHA:53035
HP:0001396	Cholestasis	5314	PKHD1	ORPHA:731
HP:0001396	Cholestasis	9420	CYP7B1	ORPHA:79302
HP:0001396	Cholestasis	6718	AKR1D1	ORPHA:79303
HP:0001396	Cholestasis	617	BCS1L	OMIM:603358
HP:0001396	Cholestasis	617	BCS1L	OMIM:124000
HP:0001396	Cholestasis	617	BCS1L	ORPHA:53693
HP:0001396	Cholestasis	9095	TBX19	OMIM:201400
HP:0001396	Cholestasis	374879	ZNF699	OMIM:619488
HP:0001396	Cholestasis	27031	NPHP3	OMIM:208540
HP:0001396	Cholestasis	27031	NPHP3	OMIM:267010
HP:0001396	Cholestasis	4141	MARS1	OMIM:615486
HP:0001396	Cholestasis	5244	ABCB4	OMIM:600803
HP:0001396	Cholestasis	6288	SAA1	ORPHA:85445
HP:0001396	Cholestasis	644	BLVRA	OMIM:614156
HP:0001396	Cholestasis	169792	GLIS3	OMIM:610199
HP:0001396	Cholestasis	51473	DCDC2	ORPHA:84081
HP:0001396	Cholestasis	51473	DCDC2	OMIM:616217
HP:0001396	Cholestasis	51473	DCDC2	OMIM:617394
HP:0001396	Cholestasis	91147	TMEM67	ORPHA:84081
HP:0001396	Cholestasis	182	JAG1	OMIM:118450
HP:0001396	Cholestasis	10165	SLC25A13	ORPHA:247598
HP:0001396	Cholestasis	23729	SHPK	ORPHA:440713
HP:0001396	Cholestasis	5573	PRKAR1A	ORPHA:615
HP:0001396	Cholestasis	9076	CLDN1	ORPHA:59303
HP:0001396	Cholestasis	9076	CLDN1	OMIM:607626
HP:0001396	Cholestasis	10551	AGR2	OMIM:620233
HP:0001396	Cholestasis	199221	DZIP1L	ORPHA:731
HP:0001396	Cholestasis	9968	MED12	OMIM:301068
HP:0001396	Cholestasis	55898	UNC45A	OMIM:619377
HP:0001396	Cholestasis	60561	RINT1	OMIM:618641
HP:0001396	Cholestasis	2859	GPR35	ORPHA:171
HP:0001396	Cholestasis	10507	SEMA4D	ORPHA:171
HP:0001396	Cholestasis	4485	MST1	ORPHA:171
HP:0001396	Cholestasis	6925	TCF4	ORPHA:171
HP:0001396	Cholestasis	79989	IFT56	OMIM:619534
HP:0001396	Cholestasis	3930	LBR	OMIM:613471
HP:0001396	Cholestasis	537	ATP6AP1	OMIM:300972
HP:0001396	Cholestasis	50619	DEF6	OMIM:619573
HP:0001396	Cholestasis	9652	SKIC3	OMIM:222470
HP:0001396	Cholestasis	7019	TFAM	OMIM:617156
HP:0001396	Cholestasis	3643	INSR	OMIM:246200
HP:0001396	Cholestasis	11232	POLG2	OMIM:618528
HP:0001396	Cholestasis	4358	MPV17	OMIM:256810
HP:0001396	Cholestasis	10616	RBCK1	OMIM:615895
HP:0001396	Cholestasis	130589	GALM	ORPHA:570422
HP:0001396	Cholestasis	383	ARG1	OMIM:207800
HP:0001396	Cholestasis	3376	IARS1	ORPHA:541423
HP:0001396	Cholestasis	54532	USP53	OMIM:619658
HP:0001396	Cholestasis	284086	NEK8	OMIM:615415
HP:0001396	Cholestasis	3295	HSD17B4	OMIM:261515
HP:0001396	Cholestasis	4853	NOTCH2	OMIM:610205
HP:0001396	Cholestasis	26146	TRAF3IP1	OMIM:616629
HP:0001396	Cholestasis	124454	EARS2	OMIM:614924
HP:0001396	Cholestasis	1581	CYP7A1	ORPHA:209902
HP:0001396	Cholestasis	2778	GNAS	ORPHA:562
HP:0001396	Cholestasis	203286	ANKS6	OMIM:615382
HP:0001396	Cholestasis	9742	IFT140	OMIM:266920
HP:0001396	Cholestasis	5256	PHKA2	ORPHA:264580
HP:0001396	Cholestasis	5261	PHKG2	ORPHA:264580
HP:0001396	Cholestasis	113220	KIF12	OMIM:619662
HP:0001396	Cholestasis	57511	COG6	OMIM:614576
HP:0001396	Cholestasis	51134	CEP83	OMIM:615862
HP:0001396	Cholestasis	2783	GNB2	OMIM:619503
HP:0001396	Cholestasis	79053	ALG8	OMIM:608104
HP:0001396	Cholestasis	1174	AP1S1	OMIM:609313
HP:0001396	Cholestasis	26276	VPS33B	OMIM:620010
HP:0001396	Cholestasis	4069	LYZ	OMIM:105200
HP:0001396	Cholestasis	2243	FGA	OMIM:105200
HP:0001396	Cholestasis	335	APOA1	OMIM:105200
HP:0001396	Cholestasis	567	B2M	OMIM:105200
HP:0001396	Cholestasis	2271	FH	OMIM:606812
HP:0001396	Cholestasis	80270	HSD3B7	OMIM:607765
HP:0001396	Cholestasis	164656	TMPRSS6	ORPHA:209981
HP:0001396	Cholestasis	6309	SC5D	ORPHA:46059
HP:0001396	Cholestasis	6309	SC5D	OMIM:607330
HP:0001396	Cholestasis	54914	FOCAD	OMIM:619991
HP:0001396	Cholestasis	9414	TJP2	OMIM:615878
HP:0001396	Cholestasis	5236	PGM1	OMIM:614921
HP:0001396	Cholestasis	5195	PEX14	OMIM:614887
HP:0001396	Cholestasis	23600	AMACR	OMIM:214950
HP:0001396	Cholestasis	197131	UBR1	OMIM:243800
HP:0001396	Cholestasis	55610	VPS50	OMIM:619685
HP:0001396	Cholestasis	6514	SLC2A2	OMIM:227810
HP:0001396	Cholestasis	162	AP1B1	ORPHA:171851
HP:0001396	Cholestasis	200931	SLC51A	OMIM:619484
HP:0001396	Cholestasis	84936	ZFYVE19	OMIM:619849
HP:0001396	Cholestasis	1717	DHCR7	OMIM:270400
HP:0001396	Cholestasis	4072	EPCAM	ORPHA:92050
HP:0001396	Cholestasis	105371045	PERCC1	ORPHA:92050
HP:0001396	Cholestasis	50674	NEUROG3	ORPHA:83620
HP:0001396	Cholestasis	1777	DNASE2	OMIM:619858
HP:0001396	Cholestasis	427	ASAH1	ORPHA:333
HP:0001396	Cholestasis	10664	CTCF	ORPHA:363611
HP:0001396	Cholestasis	23446	SLC44A1	OMIM:618868
HP:0001396	Cholestasis	5626	PROP1	ORPHA:226307
HP:0001396	Cholestasis	89884	LHX4	ORPHA:226307
HP:0001396	Cholestasis	8022	LHX3	ORPHA:226307
HP:0001396	Cholestasis	8820	HESX1	ORPHA:226307
HP:0001396	Cholestasis	1593	CYP27A1	ORPHA:909
HP:0001396	Cholestasis	100151683	RNU4ATAC	OMIM:210710
HP:0001396	Cholestasis	2584	GALK1	OMIM:230200
HP:0001396	Cholestasis	8405	SPOP	OMIM:618828
HP:0001396	Cholestasis	8085	KMT2D	OMIM:620186
HP:0001396	Cholestasis	6609	SMPD1	OMIM:257200
HP:0001396	Cholestasis	64324	NSD1	ORPHA:821
HP:0001396	Cholestasis	64324	NSD1	OMIM:117550
HP:0001396	Cholestasis	29072	SETD2	ORPHA:821
HP:0001396	Cholestasis	10297	APC2	ORPHA:821
HP:0001396	Cholestasis	123264	SLC51B	OMIM:619481
HP:0001396	Cholestasis	5631	PRPS1	ORPHA:423479
HP:0001396	Cholestasis	11277	TREX1	OMIM:225750
HP:0001396	Cholestasis	11277	TREX1	ORPHA:51
HP:0001396	Cholestasis	200894	ARL13B	OMIM:612291
HP:0001396	Cholestasis	10525	HYOU1	OMIM:233600
HP:0001396	Cholestasis	5184	PEPD	OMIM:170100
HP:0001396	Cholestasis	50506	DUOX2	ORPHA:226316
HP:0001396	Cholestasis	50506	DUOX2	ORPHA:95716
HP:0001396	Cholestasis	55904	KMT2E	OMIM:618512
HP:0001396	Cholestasis	2542	SLC37A4	OMIM:619525
HP:0001396	Cholestasis	25973	PARS2	OMIM:618437
HP:0001396	Cholestasis	7252	TSHB	ORPHA:90674
HP:0001396	Cholestasis	6554	SLC10A1	OMIM:619256
HP:0001396	Cholestasis	8565	YARS1	OMIM:619418
HP:0001396	Cholestasis	405753	DUOXA2	ORPHA:95716
HP:0001396	Cholestasis	6528	SLC5A5	ORPHA:95716
HP:0001396	Cholestasis	7038	TG	ORPHA:95716
HP:0001396	Cholestasis	7173	TPO	ORPHA:95716
HP:0001396	Cholestasis	389434	IYD	ORPHA:95716
HP:0001396	Cholestasis	84317	CCDC115	OMIM:616828
HP:0001396	Cholestasis	4864	NPC1	OMIM:257220
HP:0001396	Cholestasis	7201	TRHR	ORPHA:99832
HP:0001396	Cholestasis	6567	SLC16A2	ORPHA:59
HP:0001396	Cholestasis	2688	GH1	OMIM:262400
HP:0001396	Cholestasis	146059	CDAN1	OMIM:224120
HP:0001396	Cholestasis	10535	RNASEH2A	ORPHA:51
HP:0001396	Cholestasis	84153	RNASEH2C	ORPHA:51
HP:0001396	Cholestasis	25939	SAMHD1	ORPHA:51
HP:0001396	Cholestasis	79621	RNASEH2B	ORPHA:51
HP:0001396	Cholestasis	103	ADAR	ORPHA:51
HP:0001396	Cholestasis	100147744	RNU7-1	ORPHA:51
HP:0001396	Cholestasis	134353	LSM11	ORPHA:51
HP:0001396	Cholestasis	64135	IFIH1	ORPHA:51
HP:0001396	Cholestasis	672	BRCA1	ORPHA:1333
HP:0001396	Cholestasis	285282	RABL3	ORPHA:1333
HP:0001396	Cholestasis	7157	TP53	ORPHA:1333
HP:0001396	Cholestasis	675	BRCA2	ORPHA:1333
HP:0001396	Cholestasis	3845	KRAS	ORPHA:1333
HP:0001396	Cholestasis	1029	CDKN2A	ORPHA:1333
HP:0001396	Cholestasis	79728	PALB2	ORPHA:1333
HP:0001396	Cholestasis	4089	SMAD4	ORPHA:1333
HP:0001396	Cholestasis	23022	PALLD	ORPHA:1333
HP:0001396	Cholestasis	1027	CDKN1B	ORPHA:276152
HP:0001399	Hepatic failure	1374	CPT1A	ORPHA:156
HP:0001399	Hepatic failure	26191	PTPN22	ORPHA:397
HP:0001399	Hepatic failure	3106	HLA-B	ORPHA:397
HP:0001399	Hepatic failure	3123	HLA-DRB1	ORPHA:397
HP:0001399	Hepatic failure	3123	HLA-DRB1	ORPHA:797
HP:0001399	Hepatic failure	8974	P4HA2	ORPHA:397
HP:0001399	Hepatic failure	2235	FECH	OMIM:177000
HP:0001399	Hepatic failure	6309	SC5D	ORPHA:46059
HP:0001399	Hepatic failure	72	ACTG2	OMIM:619431
HP:0001399	Hepatic failure	2632	GBE1	OMIM:232500
HP:0001399	Hepatic failure	26160	IFT172	OMIM:615630
HP:0001399	Hepatic failure	9414	TJP2	OMIM:615878
HP:0001399	Hepatic failure	6261	RYR1	ORPHA:466650
HP:0001399	Hepatic failure	2629	GBA1	OMIM:608013
HP:0001399	Hepatic failure	9420	CYP7B1	ORPHA:79302
HP:0001399	Hepatic failure	9420	CYP7B1	OMIM:613812
HP:0001399	Hepatic failure	6718	AKR1D1	ORPHA:79303
HP:0001399	Hepatic failure	6718	AKR1D1	OMIM:235555
HP:0001399	Hepatic failure	5009	OTC	ORPHA:664
HP:0001399	Hepatic failure	4535	MT-ND1	ORPHA:255210
HP:0001399	Hepatic failure	4536	MT-ND2	ORPHA:255210
HP:0001399	Hepatic failure	4537	MT-ND3	ORPHA:255210
HP:0001399	Hepatic failure	4538	MT-ND4	ORPHA:255210
HP:0001399	Hepatic failure	4567	MT-TL1	ORPHA:255210
HP:0001399	Hepatic failure	4578	MT-TW	ORPHA:255210
HP:0001399	Hepatic failure	4577	MT-TV	ORPHA:255210
HP:0001399	Hepatic failure	4508	MT-ATP6	ORPHA:255210
HP:0001399	Hepatic failure	4540	MT-ND5	ORPHA:255210
HP:0001399	Hepatic failure	4541	MT-ND6	ORPHA:255210
HP:0001399	Hepatic failure	4566	MT-TK	ORPHA:255210
HP:0001399	Hepatic failure	197131	UBR1	OMIM:243800
HP:0001399	Hepatic failure	4141	MARS1	OMIM:615486
HP:0001399	Hepatic failure	10166	SLC25A15	ORPHA:415
HP:0001399	Hepatic failure	54658	UGT1A1	OMIM:143500
HP:0001399	Hepatic failure	2592	GALT	ORPHA:79239
HP:0001399	Hepatic failure	2165	F13B	ORPHA:331
HP:0001399	Hepatic failure	2162	F13A1	ORPHA:331
HP:0001399	Hepatic failure	427	ASAH1	ORPHA:333
HP:0001399	Hepatic failure	27235	COQ2	OMIM:607426
HP:0001399	Hepatic failure	6609	SMPD1	ORPHA:77293
HP:0001399	Hepatic failure	1738	DLD	ORPHA:2394
HP:0001399	Hepatic failure	51473	DCDC2	OMIM:617394
HP:0001399	Hepatic failure	5105	PCK1	OMIM:261680
HP:0001399	Hepatic failure	50619	DEF6	OMIM:619573
HP:0001399	Hepatic failure	7019	TFAM	OMIM:617156
HP:0001399	Hepatic failure	3988	LIPA	OMIM:278000
HP:0001399	Hepatic failure	3988	LIPA	ORPHA:75233
HP:0001399	Hepatic failure	3988	LIPA	ORPHA:75234
HP:0001399	Hepatic failure	4358	MPV17	OMIM:256810
HP:0001399	Hepatic failure	3376	IARS1	ORPHA:541423
HP:0001399	Hepatic failure	55764	IFT122	OMIM:218330
HP:0001399	Hepatic failure	1716	DGUOK	OMIM:251880
HP:0001399	Hepatic failure	9971	NR1H4	OMIM:617049
HP:0001399	Hepatic failure	25839	COG4	OMIM:613489
HP:0001399	Hepatic failure	788	SLC25A20	ORPHA:159
HP:0001399	Hepatic failure	56244	BTNL2	ORPHA:797
HP:0001399	Hepatic failure	8241	RBM10	OMIM:311900
HP:0001399	Hepatic failure	7840	ALMS1	ORPHA:64
HP:0001399	Hepatic failure	9056	SLC7A7	ORPHA:470
HP:0001399	Hepatic failure	80270	HSD3B7	OMIM:607765
HP:0001399	Hepatic failure	51241	COX16	OMIM:619355
HP:0001399	Hepatic failure	570	BAAT	OMIM:619232
HP:0001399	Hepatic failure	54914	FOCAD	OMIM:619991
HP:0001399	Hepatic failure	8364	H4C3	OMIM:619758
HP:0001399	Hepatic failure	5265	SERPINA1	ORPHA:60
HP:0001399	Hepatic failure	5428	POLG	OMIM:203700
HP:0001399	Hepatic failure	23600	AMACR	OMIM:214950
HP:0001399	Hepatic failure	378884	NHLRC1	ORPHA:501
HP:0001399	Hepatic failure	378884	NHLRC1	OMIM:254780
HP:0001399	Hepatic failure	7957	EPM2A	ORPHA:501
HP:0001399	Hepatic failure	7957	EPM2A	OMIM:254780
HP:0001399	Hepatic failure	3594	IL12RB1	ORPHA:186
HP:0001399	Hepatic failure	23534	TNPO3	ORPHA:186
HP:0001399	Hepatic failure	3592	IL12A	ORPHA:186
HP:0001399	Hepatic failure	6689	SPIB	ORPHA:186
HP:0001399	Hepatic failure	5450	POU2AF1	ORPHA:186
HP:0001399	Hepatic failure	9966	TNFSF15	ORPHA:186
HP:0001399	Hepatic failure	79258	MMEL1	ORPHA:186
HP:0001399	Hepatic failure	3663	IRF5	ORPHA:186
HP:0001399	Hepatic failure	5106	PCK2	OMIM:261650
HP:0001399	Hepatic failure	50615	IL21R	OMIM:615207
HP:0001399	Hepatic failure	182	JAG1	OMIM:118450
HP:0001399	Hepatic failure	28976	ACAD9	OMIM:611126
HP:0001399	Hepatic failure	6514	SLC2A2	ORPHA:2088
HP:0001399	Hepatic failure	540	ATP7B	OMIM:277900
HP:0001399	Hepatic failure	2271	FH	OMIM:606812
HP:0001399	Hepatic failure	9968	MED12	OMIM:301068
HP:0001399	Hepatic failure	9076	CLDN1	OMIM:607626
HP:0001399	Hepatic failure	2658	GDF2	ORPHA:774
HP:0001399	Hepatic failure	94	ACVRL1	ORPHA:774
HP:0001399	Hepatic failure	4089	SMAD4	ORPHA:774
HP:0001399	Hepatic failure	2022	ENG	ORPHA:774
HP:0001399	Hepatic failure	4351	MPI	OMIM:602579
HP:0001399	Hepatic failure	51081	MRPS7	OMIM:617872
HP:0001399	Hepatic failure	9652	SKIC3	OMIM:222470
HP:0001399	Hepatic failure	4724	NDUFS4	OMIM:252010
HP:0001399	Hepatic failure	29960	MRM2	OMIM:618567
HP:0001399	Hepatic failure	5824	PEX19	OMIM:614886
HP:0001399	Hepatic failure	5824	PEX19	ORPHA:912
HP:0001399	Hepatic failure	84317	CCDC115	OMIM:616828
HP:0001399	Hepatic failure	2184	FAH	OMIM:276700
HP:0001399	Hepatic failure	1376	CPT2	ORPHA:228305
HP:0001399	Hepatic failure	1376	CPT2	ORPHA:228308
HP:0001399	Hepatic failure	28962	OSTM1	OMIM:259720
HP:0001399	Hepatic failure	1616	DAXX	ORPHA:100075
HP:0001399	Hepatic failure	546	ATRX	ORPHA:100075
HP:0001399	Hepatic failure	5825	ABCD3	OMIM:616278
HP:0001399	Hepatic failure	80169	CTC1	ORPHA:1775
HP:0001399	Hepatic failure	26277	TINF2	ORPHA:1775
HP:0001399	Hepatic failure	55651	NHP2	ORPHA:1775
HP:0001399	Hepatic failure	79650	USB1	ORPHA:1775
HP:0001399	Hepatic failure	55135	WRAP53	ORPHA:1775
HP:0001399	Hepatic failure	51750	RTEL1	ORPHA:1775
HP:0001399	Hepatic failure	4869	NPM1	ORPHA:1775
HP:0001399	Hepatic failure	7012	TERC	ORPHA:1775
HP:0001399	Hepatic failure	55505	NOP10	ORPHA:1775
HP:0001399	Hepatic failure	5073	PARN	ORPHA:1775
HP:0001399	Hepatic failure	7015	TERT	ORPHA:1775
HP:0001399	Hepatic failure	1736	DKC1	ORPHA:1775
HP:0001399	Hepatic failure	7298	TYMS	ORPHA:1775
HP:0001399	Hepatic failure	57410	SCYL1	OMIM:616719
HP:0001399	Hepatic failure	55670	PEX26	ORPHA:912
HP:0001399	Hepatic failure	5828	PEX2	ORPHA:912
HP:0001399	Hepatic failure	8504	PEX3	ORPHA:912
HP:0001399	Hepatic failure	8799	PEX11B	ORPHA:912
HP:0001399	Hepatic failure	9409	PEX16	ORPHA:912
HP:0001399	Hepatic failure	5190	PEX6	ORPHA:912
HP:0001399	Hepatic failure	5830	PEX5	ORPHA:912
HP:0001399	Hepatic failure	5189	PEX1	ORPHA:912
HP:0001399	Hepatic failure	5193	PEX12	ORPHA:912
HP:0001399	Hepatic failure	5194	PEX13	ORPHA:912
HP:0001399	Hepatic failure	5195	PEX14	ORPHA:912
HP:0001399	Hepatic failure	5192	PEX10	ORPHA:912
HP:0001399	Hepatic failure	5277	PIGA	OMIM:301072
HP:0001399	Hepatic failure	11232	POLG2	OMIM:618528
HP:0001399	Hepatic failure	85476	GFM1	OMIM:609060
HP:0001399	Hepatic failure	10068	IL18BP	OMIM:618549
HP:0001399	Hepatic failure	3875	KRT18	OMIM:215600
HP:0001399	Hepatic failure	331	XIAP	OMIM:308240
HP:0001399	Hepatic failure	4068	SH2D1A	OMIM:308240
HP:0001399	Hepatic failure	10320	IKZF1	ORPHA:36426
HP:0001399	Hepatic failure	811	CALR	ORPHA:131
HP:0001399	Hepatic failure	3717	JAK2	ORPHA:131
HP:0001399	Hepatic failure	2153	F5	ORPHA:131
HP:0001399	Hepatic failure	51594	NBAS	OMIM:616483
HP:0001399	Hepatic failure	55687	TRMU	OMIM:613070
HP:0001399	Hepatic failure	60561	RINT1	OMIM:618641
HP:0001399	Hepatic failure	1537	CYC1	OMIM:615453
HP:0001399	Hepatic failure	64840	PORCN	ORPHA:2092
HP:0001399	Hepatic failure	51520	LARS1	OMIM:615438
HP:0001399	Hepatic failure	83737	ITCH	ORPHA:228426
HP:0001399	Hepatic failure	779	CACNA1S	ORPHA:423
HP:0001399	Hepatic failure	9451	EIF2AK3	ORPHA:1667
HP:0001399	Hepatic failure	4210	MEFV	ORPHA:342
HP:0001399	Hepatic failure	57169	ZNFX1	OMIM:619644
HP:0001399	Hepatic failure	3033	HADH	ORPHA:71212
HP:0001399	Hepatic failure	4864	NPC1	OMIM:257220
HP:0001399	Hepatic failure	4576	MT-TT	ORPHA:254857
HP:0001399	Hepatic failure	56623	INPP5E	ORPHA:1454
HP:0001399	Hepatic failure	91147	TMEM67	ORPHA:1454
HP:0001399	Hepatic failure	23322	RPGRIP1L	ORPHA:1454
HP:0001399	Hepatic failure	57545	CC2D2A	ORPHA:1454
HP:0001399	Hepatic failure	654	BMP6	ORPHA:465508
HP:0001399	Hepatic failure	3077	HFE	ORPHA:465508
HP:0001399	Hepatic failure	3032	HADHB	ORPHA:746
HP:0001399	Hepatic failure	3030	HADHA	ORPHA:746
HP:0001399	Hepatic failure	2859	GPR35	ORPHA:171
HP:0001399	Hepatic failure	10507	SEMA4D	ORPHA:171
HP:0001399	Hepatic failure	4485	MST1	ORPHA:171
HP:0001399	Hepatic failure	6925	TCF4	ORPHA:171
HP:0001399	Hepatic failure	3431	SP110	ORPHA:79124
HP:0001399	Hepatic failure	229	ALDOB	ORPHA:469
HP:0008555	Absent vestibular function	25861	WHRN	OMIM:607084
HP:0008555	Absent vestibular function	54845	ESRP1	OMIM:618013
HP:0008555	Absent vestibular function	4647	MYO7A	OMIM:276900
HP:0008555	Absent vestibular function	10083	USH1C	OMIM:276900
HP:0010723	Cystic lesions of the pinnae	1836	SLC26A2	OMIM:222600
HP:0008559	Hypoplastic superior helix	7020	TFAP2A	OMIM:113620
HP:0008559	Hypoplastic superior helix	5332	PLCB4	OMIM:614669
HP:0008559	Hypoplastic superior helix	80144	FRAS1	OMIM:219000
HP:0008559	Hypoplastic superior helix	2773	GNAI3	OMIM:602483
HP:0034401	Atypical teratoid/rhabdoid tumor	6597	SMARCA4	OMIM:613325
HP:0034403	Subcutaneous panniculitis-like T-cell lymphoma	84868	HAVCR2	OMIM:618398
HP:0034402	Rhabdoid tumor of the kidney	6597	SMARCA4	OMIM:613325
HP:0034405	Enlarged tectum	23499	MACF1	OMIM:618325
HP:0000365	Hearing impairment	26191	PTPN22	ORPHA:397
HP:0000365	Hearing impairment	3106	HLA-B	ORPHA:397
HP:0000365	Hearing impairment	3123	HLA-DRB1	ORPHA:397
HP:0000365	Hearing impairment	8974	P4HA2	ORPHA:397
HP:0000365	Hearing impairment	65217	PCDH15	OMIM:601067
HP:0000365	Hearing impairment	64072	CDH23	OMIM:601067
HP:0000365	Hearing impairment	51569	UFM1	OMIM:617899
HP:0000365	Hearing impairment	2263	FGFR2	OMIM:149730
HP:0000365	Hearing impairment	2263	FGFR2	ORPHA:794
HP:0000365	Hearing impairment	2263	FGFR2	ORPHA:93260
HP:0000365	Hearing impairment	2263	FGFR2	ORPHA:93258
HP:0000365	Hearing impairment	2263	FGFR2	OMIM:101400
HP:0000365	Hearing impairment	2263	FGFR2	OMIM:101200
HP:0000365	Hearing impairment	2263	FGFR2	ORPHA:207
HP:0000365	Hearing impairment	79188	TMEM43	OMIM:619832
HP:0000365	Hearing impairment	4897	NRCAM	OMIM:619833
HP:0000365	Hearing impairment	7068	THRB	OMIM:274300
HP:0000365	Hearing impairment	5631	PRPS1	ORPHA:99014
HP:0000365	Hearing impairment	5631	PRPS1	OMIM:301835
HP:0000365	Hearing impairment	5631	PRPS1	OMIM:311070
HP:0000365	Hearing impairment	5631	PRPS1	OMIM:300661
HP:0000365	Hearing impairment	6662	SOX9	ORPHA:140
HP:0000365	Hearing impairment	6662	SOX9	OMIM:114290
HP:0000365	Hearing impairment	1855	DVL1	OMIM:616331
HP:0000365	Hearing impairment	1855	DVL1	ORPHA:3107
HP:0000365	Hearing impairment	64412	GZF1	OMIM:617662
HP:0000365	Hearing impairment	10528	NOP56	OMIM:614153
HP:0000365	Hearing impairment	10528	NOP56	ORPHA:276198
HP:0000365	Hearing impairment	56997	COQ8A	ORPHA:139485
HP:0000365	Hearing impairment	27245	AHDC1	ORPHA:412069
HP:0000365	Hearing impairment	6595	SMARCA2	ORPHA:2728
HP:0000365	Hearing impairment	51112	TRAPPC12	OMIM:617669
HP:0000365	Hearing impairment	55636	CHD7	ORPHA:138
HP:0000365	Hearing impairment	9723	SEMA3E	ORPHA:138
HP:0000365	Hearing impairment	55650	PIGV	OMIM:239300
HP:0000365	Hearing impairment	55154	MSTO1	OMIM:617675
HP:0000365	Hearing impairment	55154	MSTO1	ORPHA:502423
HP:0000365	Hearing impairment	50484	RRM2B	OMIM:613077
HP:0000365	Hearing impairment	50484	RRM2B	ORPHA:254892
HP:0000365	Hearing impairment	50484	RRM2B	ORPHA:329336
HP:0000365	Hearing impairment	50484	RRM2B	ORPHA:480
HP:0000365	Hearing impairment	50484	RRM2B	OMIM:268315
HP:0000365	Hearing impairment	113189	CHST14	ORPHA:2953
HP:0000365	Hearing impairment	113189	CHST14	OMIM:601776
HP:0000365	Hearing impairment	29940	DSE	ORPHA:2953
HP:0000365	Hearing impairment	54880	BCOR	ORPHA:2712
HP:0000365	Hearing impairment	54880	BCOR	ORPHA:568
HP:0000365	Hearing impairment	54880	BCOR	OMIM:309800
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:1860
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:794
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:15
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:93274
HP:0000365	Hearing impairment	2261	FGFR3	OMIM:620192
HP:0000365	Hearing impairment	2261	FGFR3	OMIM:616482
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:85164
HP:0000365	Hearing impairment	2261	FGFR3	OMIM:602849
HP:0000365	Hearing impairment	2261	FGFR3	OMIM:610474
HP:0000365	Hearing impairment	2261	FGFR3	ORPHA:35099
HP:0000365	Hearing impairment	84100	ARL6	OMIM:209900
HP:0000365	Hearing impairment	84100	ARL6	ORPHA:110
HP:0000365	Hearing impairment	79140	CCDC28B	OMIM:209900
HP:0000365	Hearing impairment	582	BBS1	OMIM:209900
HP:0000365	Hearing impairment	582	BBS1	ORPHA:110
HP:0000365	Hearing impairment	2697	GJA1	ORPHA:2710
HP:0000365	Hearing impairment	2697	GJA1	ORPHA:317
HP:0000365	Hearing impairment	10087	CERT1	OMIM:616351
HP:0000365	Hearing impairment	11107	PRDM5	OMIM:614170
HP:0000365	Hearing impairment	4330	MN1	OMIM:618774
HP:0000365	Hearing impairment	81848	SPRY4	OMIM:615266
HP:0000365	Hearing impairment	57231	SNX14	OMIM:616354
HP:0000365	Hearing impairment	1848	DUSP6	OMIM:615269
HP:0000365	Hearing impairment	8550	MAPKAPK5	OMIM:619869
HP:0000365	Hearing impairment	8036	SHOC2	ORPHA:2701
HP:0000365	Hearing impairment	5500	PPP1CB	ORPHA:2701
HP:0000365	Hearing impairment	54756	IL17RD	OMIM:615267
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:1856
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:166011
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:93296
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:485
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:94068
HP:0000365	Hearing impairment	1280	COL2A1	OMIM:183900
HP:0000365	Hearing impairment	1280	COL2A1	OMIM:609508
HP:0000365	Hearing impairment	1280	COL2A1	ORPHA:93346
HP:0000365	Hearing impairment	2316	FLNA	ORPHA:90650
HP:0000365	Hearing impairment	2316	FLNA	ORPHA:90652
HP:0000365	Hearing impairment	2316	FLNA	ORPHA:1826
HP:0000365	Hearing impairment	2316	FLNA	OMIM:305620
HP:0000365	Hearing impairment	2316	FLNA	ORPHA:2484
HP:0000365	Hearing impairment	1499	CTNNB1	ORPHA:54595
HP:0000365	Hearing impairment	1499	CTNNB1	ORPHA:404473
HP:0000365	Hearing impairment	1499	CTNNB1	ORPHA:891
HP:0000365	Hearing impairment	673	BRAF	ORPHA:54595
HP:0000365	Hearing impairment	673	BRAF	OMIM:115150
HP:0000365	Hearing impairment	673	BRAF	OMIM:163950
HP:0000365	Hearing impairment	4359	MPZ	ORPHA:101082
HP:0000365	Hearing impairment	92482	BBIP1	ORPHA:110
HP:0000365	Hearing impairment	80184	CEP290	ORPHA:110
HP:0000365	Hearing impairment	80184	CEP290	ORPHA:65
HP:0000365	Hearing impairment	11020	IFT27	ORPHA:110
HP:0000365	Hearing impairment	11020	IFT27	OMIM:615996
HP:0000365	Hearing impairment	49855	SCAPER	ORPHA:110
HP:0000365	Hearing impairment	4867	NPHP1	ORPHA:110
HP:0000365	Hearing impairment	51057	WDPCP	ORPHA:110
HP:0000365	Hearing impairment	27241	BBS9	ORPHA:110
HP:0000365	Hearing impairment	84984	CEP19	ORPHA:110
HP:0000365	Hearing impairment	22954	TRIM32	ORPHA:110
HP:0000365	Hearing impairment	54903	MKS1	ORPHA:110
HP:0000365	Hearing impairment	79738	BBS10	ORPHA:110
HP:0000365	Hearing impairment	123016	TTC8	ORPHA:110
HP:0000365	Hearing impairment	26160	IFT172	ORPHA:110
HP:0000365	Hearing impairment	583	BBS2	ORPHA:110
HP:0000365	Hearing impairment	585	BBS4	ORPHA:110
HP:0000365	Hearing impairment	8195	MKKS	ORPHA:110
HP:0000365	Hearing impairment	54585	LZTFL1	ORPHA:110
HP:0000365	Hearing impairment	55212	BBS7	ORPHA:110
HP:0000365	Hearing impairment	166379	BBS12	ORPHA:110
HP:0000365	Hearing impairment	10806	SDCCAG8	ORPHA:110
HP:0000365	Hearing impairment	10806	SDCCAG8	OMIM:615993
HP:0000365	Hearing impairment	157657	CFAP418	ORPHA:110
HP:0000365	Hearing impairment	129880	BBS5	ORPHA:110
HP:0000365	Hearing impairment	80173	IFT74	ORPHA:110
HP:0000365	Hearing impairment	9131	AIFM1	ORPHA:101078
HP:0000365	Hearing impairment	9131	AIFM1	OMIM:300614
HP:0000365	Hearing impairment	9131	AIFM1	OMIM:310490
HP:0000365	Hearing impairment	5476	CTSA	ORPHA:351
HP:0000365	Hearing impairment	5476	CTSA	OMIM:256540
HP:0000365	Hearing impairment	23767	FLRT3	OMIM:615271
HP:0000365	Hearing impairment	51633	OTUD6B	OMIM:617452
HP:0000365	Hearing impairment	51633	OTUD6B	ORPHA:505237
HP:0000365	Hearing impairment	57167	SALL4	OMIM:147750
HP:0000365	Hearing impairment	57167	SALL4	ORPHA:2307
HP:0000365	Hearing impairment	57167	SALL4	ORPHA:233
HP:0000365	Hearing impairment	27125	AFF4	OMIM:616368
HP:0000365	Hearing impairment	27125	AFF4	ORPHA:444077
HP:0000365	Hearing impairment	116115	ZNF526	OMIM:619877
HP:0000365	Hearing impairment	3098	HK1	OMIM:618547
HP:0000365	Hearing impairment	2705	GJB1	ORPHA:101075
HP:0000365	Hearing impairment	2517	FUCA1	ORPHA:349
HP:0000365	Hearing impairment	2517	FUCA1	OMIM:230000
HP:0000365	Hearing impairment	2138	EYA1	ORPHA:107
HP:0000365	Hearing impairment	2138	EYA1	ORPHA:52429
HP:0000365	Hearing impairment	147912	SIX5	ORPHA:107
HP:0000365	Hearing impairment	147912	SIX5	OMIM:610896
HP:0000365	Hearing impairment	6495	SIX1	ORPHA:107
HP:0000365	Hearing impairment	6495	SIX1	ORPHA:52429
HP:0000365	Hearing impairment	79718	TBL1XR1	OMIM:602342
HP:0000365	Hearing impairment	79718	TBL1XR1	ORPHA:487825
HP:0000365	Hearing impairment	6804	STX1A	ORPHA:586
HP:0000365	Hearing impairment	2947	GSTM3	ORPHA:586
HP:0000365	Hearing impairment	7040	TGFB1	ORPHA:586
HP:0000365	Hearing impairment	7040	TGFB1	OMIM:131300
HP:0000365	Hearing impairment	7040	TGFB1	ORPHA:1328
HP:0000365	Hearing impairment	2729	GCLC	ORPHA:586
HP:0000365	Hearing impairment	1084	CEACAM3	ORPHA:586
HP:0000365	Hearing impairment	6556	SLC11A1	ORPHA:586
HP:0000365	Hearing impairment	51164	DCTN4	ORPHA:586
HP:0000365	Hearing impairment	3783	KCNN4	ORPHA:586
HP:0000365	Hearing impairment	4282	MIF	ORPHA:586
HP:0000365	Hearing impairment	1909	EDNRA	ORPHA:586
HP:0000365	Hearing impairment	6550	SLC9A3	ORPHA:586
HP:0000365	Hearing impairment	3162	HMOX1	ORPHA:586
HP:0000365	Hearing impairment	115019	SLC26A9	ORPHA:586
HP:0000365	Hearing impairment	3077	HFE	ORPHA:586
HP:0000365	Hearing impairment	11254	SLC6A14	ORPHA:586
HP:0000365	Hearing impairment	5265	SERPINA1	ORPHA:586
HP:0000365	Hearing impairment	1080	CFTR	ORPHA:586
HP:0000365	Hearing impairment	22802	CLCA4	ORPHA:586
HP:0000365	Hearing impairment	4680	CEACAM6	ORPHA:586
HP:0000365	Hearing impairment	146227	BEAN1	ORPHA:217012
HP:0000365	Hearing impairment	56652	TWNK	OMIM:271245
HP:0000365	Hearing impairment	56652	TWNK	ORPHA:254892
HP:0000365	Hearing impairment	56652	TWNK	ORPHA:1186
HP:0000365	Hearing impairment	1749	DLX5	OMIM:183600
HP:0000365	Hearing impairment	90	ACVR1	ORPHA:337
HP:0000365	Hearing impairment	63895	PIEZO2	ORPHA:376
HP:0000365	Hearing impairment	6654	SOS1	OMIM:135300
HP:0000365	Hearing impairment	5354	PLP1	OMIM:312080
HP:0000365	Hearing impairment	3423	IDS	OMIM:309900
HP:0000365	Hearing impairment	54532	USP53	OMIM:619658
HP:0000365	Hearing impairment	6885	MAP3K7	ORPHA:1826
HP:0000365	Hearing impairment	51322	WAC	ORPHA:466950
HP:0000365	Hearing impairment	51322	WAC	ORPHA:284169
HP:0000365	Hearing impairment	51322	WAC	OMIM:616708
HP:0000365	Hearing impairment	84295	PHF6	ORPHA:127
HP:0000365	Hearing impairment	4615	MYD88	ORPHA:33226
HP:0000365	Hearing impairment	404672	GTF2H5	OMIM:616395
HP:0000365	Hearing impairment	1387	CREBBP	OMIM:618332
HP:0000365	Hearing impairment	1387	CREBBP	OMIM:180849
HP:0000365	Hearing impairment	2033	EP300	OMIM:618333
HP:0000365	Hearing impairment	2033	EP300	OMIM:180849
HP:0000365	Hearing impairment	5081	PAX7	OMIM:618578
HP:0000365	Hearing impairment	4126	MANBA	ORPHA:118
HP:0000365	Hearing impairment	4126	MANBA	OMIM:248510
HP:0000365	Hearing impairment	7291	TWIST1	ORPHA:794
HP:0000365	Hearing impairment	7291	TWIST1	OMIM:101400
HP:0000365	Hearing impairment	7291	TWIST1	ORPHA:35099
HP:0000365	Hearing impairment	7291	TWIST1	OMIM:617746
HP:0000365	Hearing impairment	291	SLC25A4	ORPHA:254892
HP:0000365	Hearing impairment	5428	POLG	ORPHA:254892
HP:0000365	Hearing impairment	5428	POLG	ORPHA:254886
HP:0000365	Hearing impairment	5428	POLG	OMIM:613662
HP:0000365	Hearing impairment	11232	POLG2	ORPHA:254892
HP:0000365	Hearing impairment	22827	PUF60	ORPHA:508498
HP:0000365	Hearing impairment	9488	PIGB	OMIM:618580
HP:0000365	Hearing impairment	6448	SGSH	OMIM:252900
HP:0000365	Hearing impairment	695	BTK	OMIM:300755
HP:0000365	Hearing impairment	695	BTK	OMIM:307200
HP:0000365	Hearing impairment	6134	RPL10	OMIM:300998
HP:0000365	Hearing impairment	1859	DYRK1A	ORPHA:268261
HP:0000365	Hearing impairment	8573	CASK	OMIM:300749
HP:0000365	Hearing impairment	27148	STK36	OMIM:619436
HP:0000365	Hearing impairment	27148	STK36	ORPHA:244
HP:0000365	Hearing impairment	55746	NUP133	OMIM:618349
HP:0000365	Hearing impairment	79813	EHMT1	ORPHA:96147
HP:0000365	Hearing impairment	79813	EHMT1	OMIM:610253
HP:0000365	Hearing impairment	79813	EHMT1	ORPHA:261652
HP:0000365	Hearing impairment	5308	PITX2	ORPHA:782
HP:0000365	Hearing impairment	2296	FOXC1	ORPHA:782
HP:0000365	Hearing impairment	55315	SLC29A3	OMIM:602782
HP:0000365	Hearing impairment	55315	SLC29A3	ORPHA:168569
HP:0000365	Hearing impairment	55315	SLC29A3	ORPHA:1782
HP:0000365	Hearing impairment	10397	NDRG1	OMIM:601455
HP:0000365	Hearing impairment	7084	TK2	ORPHA:254886
HP:0000365	Hearing impairment	7084	TK2	OMIM:609560
HP:0000365	Hearing impairment	3767	KCNJ11	ORPHA:99885
HP:0000365	Hearing impairment	3767	KCNJ11	ORPHA:99886
HP:0000365	Hearing impairment	6774	STAT3	ORPHA:99885
HP:0000365	Hearing impairment	2645	GCK	ORPHA:99885
HP:0000365	Hearing impairment	3651	PDX1	ORPHA:99885
HP:0000365	Hearing impairment	6833	ABCC8	ORPHA:99885
HP:0000365	Hearing impairment	6833	ABCC8	ORPHA:99886
HP:0000365	Hearing impairment	3630	INS	ORPHA:99885
HP:0000365	Hearing impairment	346171	ZFP57	ORPHA:99886
HP:0000365	Hearing impairment	57061	HYMAI	ORPHA:99886
HP:0000365	Hearing impairment	5325	PLAGL1	ORPHA:99886
HP:0000365	Hearing impairment	801	CALM1	ORPHA:101016
HP:0000365	Hearing impairment	3753	KCNE1	ORPHA:101016
HP:0000365	Hearing impairment	3762	KCNJ5	ORPHA:101016
HP:0000365	Hearing impairment	805	CALM2	ORPHA:101016
HP:0000365	Hearing impairment	6910	TBX5	ORPHA:101016
HP:0000365	Hearing impairment	6336	SCN10A	ORPHA:101016
HP:0000365	Hearing impairment	3757	KCNH2	ORPHA:101016
HP:0000365	Hearing impairment	9992	KCNE2	ORPHA:101016
HP:0000365	Hearing impairment	10142	AKAP9	ORPHA:101016
HP:0000365	Hearing impairment	9722	NOS1AP	ORPHA:101016
HP:0000365	Hearing impairment	775	CACNA1C	ORPHA:101016
HP:0000365	Hearing impairment	3784	KCNQ1	ORPHA:101016
HP:0000365	Hearing impairment	10345	TRDN	ORPHA:101016
HP:0000365	Hearing impairment	6331	SCN5A	ORPHA:101016
HP:0000365	Hearing impairment	6330	SCN4B	ORPHA:101016
HP:0000365	Hearing impairment	808	CALM3	ORPHA:101016
HP:0000365	Hearing impairment	6640	SNTA1	ORPHA:101016
HP:0000365	Hearing impairment	859	CAV3	ORPHA:101016
HP:0000365	Hearing impairment	287	ANK2	ORPHA:101016
HP:0000365	Hearing impairment	473	RERE	ORPHA:494344
HP:0000365	Hearing impairment	5980	REV3L	ORPHA:570
HP:0000365	Hearing impairment	23129	PLXND1	ORPHA:570
HP:0000365	Hearing impairment	4784	NFIX	OMIM:602535
HP:0000365	Hearing impairment	51434	ANAPC7	OMIM:619699
HP:0000365	Hearing impairment	4998	ORC1	OMIM:224690
HP:0000365	Hearing impairment	4998	ORC1	ORPHA:2554
HP:0000365	Hearing impairment	4052	LTBP1	OMIM:619451
HP:0000365	Hearing impairment	84068	SLC10A7	OMIM:618363
HP:0000365	Hearing impairment	3756	KCNH1	OMIM:135500
HP:0000365	Hearing impairment	50945	TBX22	OMIM:302905
HP:0000365	Hearing impairment	201163	FLCN	OMIM:610883
HP:0000365	Hearing impairment	1312	COMT	ORPHA:567
HP:0000365	Hearing impairment	221037	JMJD1C	ORPHA:567
HP:0000365	Hearing impairment	2812	GP1BB	ORPHA:567
HP:0000365	Hearing impairment	6239	RREB1	ORPHA:567
HP:0000365	Hearing impairment	6899	TBX1	ORPHA:567
HP:0000365	Hearing impairment	6899	TBX1	ORPHA:1727
HP:0000365	Hearing impairment	7290	HIRA	ORPHA:567
HP:0000365	Hearing impairment	9632	SEC24C	ORPHA:567
HP:0000365	Hearing impairment	7353	UFD1	ORPHA:567
HP:0000365	Hearing impairment	421	ARVCF	ORPHA:567
HP:0000365	Hearing impairment	2717	GLA	ORPHA:324
HP:0000365	Hearing impairment	773	CACNA1A	ORPHA:569
HP:0000365	Hearing impairment	112476	PRRT2	ORPHA:569
HP:0000365	Hearing impairment	6323	SCN1A	ORPHA:569
HP:0000365	Hearing impairment	477	ATP1A2	ORPHA:569
HP:0000365	Hearing impairment	8260	NAA10	ORPHA:568
HP:0000365	Hearing impairment	8260	NAA10	OMIM:309800
HP:0000365	Hearing impairment	9132	KCNQ4	OMIM:600101
HP:0000365	Hearing impairment	2778	GNAS	ORPHA:562
HP:0000365	Hearing impairment	2778	GNAS	OMIM:174800
HP:0000365	Hearing impairment	9935	MAFB	OMIM:617041
HP:0000365	Hearing impairment	9935	MAFB	ORPHA:233
HP:0000365	Hearing impairment	4613	MYCN	OMIM:164280
HP:0000365	Hearing impairment	2065	ERBB3	OMIM:243180
HP:0000365	Hearing impairment	1277	COL1A1	OMIM:166220
HP:0000365	Hearing impairment	1277	COL1A1	OMIM:166200
HP:0000365	Hearing impairment	1277	COL1A1	OMIM:259420
HP:0000365	Hearing impairment	1278	COL1A2	OMIM:166220
HP:0000365	Hearing impairment	1278	COL1A2	OMIM:259420
HP:0000365	Hearing impairment	9401	RECQL4	OMIM:266280
HP:0000365	Hearing impairment	2707	GJB3	ORPHA:317
HP:0000365	Hearing impairment	2531	KDSR	ORPHA:317
HP:0000365	Hearing impairment	127534	GJB4	ORPHA:317
HP:0000365	Hearing impairment	3028	HSD17B10	ORPHA:391428
HP:0000365	Hearing impairment	6390	SDHB	ORPHA:97286
HP:0000365	Hearing impairment	6390	SDHB	ORPHA:201
HP:0000365	Hearing impairment	6391	SDHC	ORPHA:97286
HP:0000365	Hearing impairment	6391	SDHC	ORPHA:201
HP:0000365	Hearing impairment	6392	SDHD	ORPHA:97286
HP:0000365	Hearing impairment	6392	SDHD	ORPHA:201
HP:0000365	Hearing impairment	134218	DNAJC21	OMIM:617052
HP:0000365	Hearing impairment	134218	DNAJC21	ORPHA:811
HP:0000365	Hearing impairment	64840	PORCN	ORPHA:2092
HP:0000365	Hearing impairment	94005	PIGS	OMIM:618143
HP:0000365	Hearing impairment	6711	SPTBN1	OMIM:619475
HP:0000365	Hearing impairment	1285	COL4A3	OMIM:203780
HP:0000365	Hearing impairment	1285	COL4A3	OMIM:104200
HP:0000365	Hearing impairment	1286	COL4A4	OMIM:203780
HP:0000365	Hearing impairment	10413	YAP1	OMIM:120433
HP:0000365	Hearing impairment	5184	PEPD	ORPHA:742
HP:0000365	Hearing impairment	25839	COG4	OMIM:618150
HP:0000365	Hearing impairment	51360	MBTPS2	OMIM:308205
HP:0000365	Hearing impairment	51360	MBTPS2	ORPHA:85284
HP:0000365	Hearing impairment	51360	MBTPS2	OMIM:301014
HP:0000365	Hearing impairment	6872	TAF1	OMIM:300966
HP:0000365	Hearing impairment	6872	TAF1	ORPHA:480907
HP:0000365	Hearing impairment	8567	MADD	OMIM:619004
HP:0000365	Hearing impairment	374879	ZNF699	OMIM:619488
HP:0000365	Hearing impairment	8239	USP9X	OMIM:300968
HP:0000365	Hearing impairment	8239	USP9X	ORPHA:480880
HP:0000365	Hearing impairment	8318	CDC45	OMIM:617063
HP:0000365	Hearing impairment	8318	CDC45	ORPHA:2554
HP:0000365	Hearing impairment	23112	TNRC6B	OMIM:619243
HP:0000365	Hearing impairment	1654	DDX3X	OMIM:300958
HP:0000365	Hearing impairment	1654	DDX3X	ORPHA:457260
HP:0000365	Hearing impairment	6663	SOX10	OMIM:609136
HP:0000365	Hearing impairment	6663	SOX10	ORPHA:897
HP:0000365	Hearing impairment	6663	SOX10	ORPHA:895
HP:0000365	Hearing impairment	2799	GNS	OMIM:252940
HP:0000365	Hearing impairment	50964	SOST	OMIM:122860
HP:0000365	Hearing impairment	50964	SOST	OMIM:269500
HP:0000365	Hearing impairment	55670	PEX26	ORPHA:772
HP:0000365	Hearing impairment	5824	PEX19	ORPHA:772
HP:0000365	Hearing impairment	5828	PEX2	ORPHA:772
HP:0000365	Hearing impairment	5828	PEX2	OMIM:614866
HP:0000365	Hearing impairment	8504	PEX3	ORPHA:772
HP:0000365	Hearing impairment	9409	PEX16	ORPHA:772
HP:0000365	Hearing impairment	5190	PEX6	ORPHA:772
HP:0000365	Hearing impairment	5190	PEX6	ORPHA:95433
HP:0000365	Hearing impairment	5190	PEX6	ORPHA:3220
HP:0000365	Hearing impairment	8799	PEX11B	ORPHA:772
HP:0000365	Hearing impairment	5830	PEX5	ORPHA:772
HP:0000365	Hearing impairment	5189	PEX1	ORPHA:772
HP:0000365	Hearing impairment	5189	PEX1	ORPHA:3220
HP:0000365	Hearing impairment	5189	PEX1	OMIM:214100
HP:0000365	Hearing impairment	5193	PEX12	ORPHA:772
HP:0000365	Hearing impairment	5194	PEX13	ORPHA:772
HP:0000365	Hearing impairment	5194	PEX13	OMIM:614885
HP:0000365	Hearing impairment	5195	PEX14	ORPHA:772
HP:0000365	Hearing impairment	5192	PEX10	ORPHA:772
HP:0000365	Hearing impairment	10084	PQBP1	OMIM:309500
HP:0000365	Hearing impairment	4256	MGP	OMIM:245150
HP:0000365	Hearing impairment	4256	MGP	ORPHA:85202
HP:0000365	Hearing impairment	5745	PTH1R	OMIM:156400
HP:0000365	Hearing impairment	84231	TRAF7	OMIM:618164
HP:0000365	Hearing impairment	10273	STUB1	ORPHA:412057
HP:0000365	Hearing impairment	84464	SLX4	OMIM:613951
HP:0000365	Hearing impairment	84464	SLX4	ORPHA:84
HP:0000365	Hearing impairment	138050	HGSNAT	OMIM:252930
HP:0000365	Hearing impairment	617	BCS1L	ORPHA:53693
HP:0000365	Hearing impairment	617	BCS1L	OMIM:124000
HP:0000365	Hearing impairment	253827	MSRB3	OMIM:613718
HP:0000365	Hearing impairment	116150	NUS1	OMIM:617082
HP:0000365	Hearing impairment	55181	SMG8	OMIM:619268
HP:0000365	Hearing impairment	9927	MFN2	OMIM:617087
HP:0000365	Hearing impairment	9927	MFN2	OMIM:609260
HP:0000365	Hearing impairment	84168	ANTXR1	ORPHA:2067
HP:0000365	Hearing impairment	27445	PCLO	OMIM:608027
HP:0000365	Hearing impairment	6342	SCP2	OMIM:613724
HP:0000365	Hearing impairment	4669	NAGLU	OMIM:252920
HP:0000365	Hearing impairment	8085	KMT2D	OMIM:147920
HP:0000365	Hearing impairment	7403	KDM6A	OMIM:147920
HP:0000365	Hearing impairment	7403	KDM6A	OMIM:300867
HP:0000365	Hearing impairment	6309	SC5D	ORPHA:46059
HP:0000365	Hearing impairment	2070	EYA4	ORPHA:217622
HP:0000365	Hearing impairment	128674	PROKR2	OMIM:244200
HP:0000365	Hearing impairment	246243	RNASEH1	ORPHA:329336
HP:0000365	Hearing impairment	10312	TCIRG1	OMIM:259700
HP:0000365	Hearing impairment	10312	TCIRG1	ORPHA:667
HP:0000365	Hearing impairment	10312	TCIRG1	ORPHA:1782
HP:0000365	Hearing impairment	84282	RNF135	ORPHA:137634
HP:0000365	Hearing impairment	324	APC	ORPHA:99818
HP:0000365	Hearing impairment	324	APC	ORPHA:3258
HP:0000365	Hearing impairment	10466	COG5	OMIM:613612
HP:0000365	Hearing impairment	10667	FARS2	OMIM:614946
HP:0000365	Hearing impairment	64324	NSD1	ORPHA:821
HP:0000365	Hearing impairment	29072	SETD2	ORPHA:821
HP:0000365	Hearing impairment	29072	SETD2	OMIM:620157
HP:0000365	Hearing impairment	10297	APC2	ORPHA:821
HP:0000365	Hearing impairment	4552	MTRR	ORPHA:2169
HP:0000365	Hearing impairment	4884	NPTX1	OMIM:620158
HP:0000365	Hearing impairment	4038	LRP4	ORPHA:3258
HP:0000365	Hearing impairment	4038	LRP4	OMIM:614305
HP:0000365	Hearing impairment	79631	EFL1	ORPHA:811
HP:0000365	Hearing impairment	51119	SBDS	ORPHA:811
HP:0000365	Hearing impairment	6729	SRP54	ORPHA:811
HP:0000365	Hearing impairment	6197	RPS6KA3	OMIM:303600
HP:0000365	Hearing impairment	23347	SMCHD1	OMIM:158901
HP:0000365	Hearing impairment	50814	NSDHL	OMIM:308050
HP:0000365	Hearing impairment	23522	KAT6B	OMIM:606170
HP:0000365	Hearing impairment	23522	KAT6B	ORPHA:85201
HP:0000365	Hearing impairment	23522	KAT6B	OMIM:603736
HP:0000365	Hearing impairment	92579	G6PC3	OMIM:612541
HP:0000365	Hearing impairment	55157	DARS2	ORPHA:137898
HP:0000365	Hearing impairment	672	BRCA1	ORPHA:84
HP:0000365	Hearing impairment	10459	MAD2L2	ORPHA:84
HP:0000365	Hearing impairment	7516	XRCC2	ORPHA:84
HP:0000365	Hearing impairment	29089	UBE2T	ORPHA:84
HP:0000365	Hearing impairment	29089	UBE2T	OMIM:616435
HP:0000365	Hearing impairment	675	BRCA2	ORPHA:84
HP:0000365	Hearing impairment	55120	FANCL	ORPHA:84
HP:0000365	Hearing impairment	2177	FANCD2	ORPHA:84
HP:0000365	Hearing impairment	2177	FANCD2	OMIM:227646
HP:0000365	Hearing impairment	2175	FANCA	ORPHA:84
HP:0000365	Hearing impairment	2175	FANCA	OMIM:227650
HP:0000365	Hearing impairment	2187	FANCB	ORPHA:84
HP:0000365	Hearing impairment	2176	FANCC	ORPHA:84
HP:0000365	Hearing impairment	2176	FANCC	OMIM:227645
HP:0000365	Hearing impairment	2178	FANCE	ORPHA:84
HP:0000365	Hearing impairment	2178	FANCE	OMIM:600901
HP:0000365	Hearing impairment	2188	FANCF	ORPHA:84
HP:0000365	Hearing impairment	2189	FANCG	ORPHA:84
HP:0000365	Hearing impairment	5888	RAD51	ORPHA:84
HP:0000365	Hearing impairment	5889	RAD51C	ORPHA:84
HP:0000365	Hearing impairment	55159	RFWD3	ORPHA:84
HP:0000365	Hearing impairment	83990	BRIP1	ORPHA:84
HP:0000365	Hearing impairment	57697	FANCM	ORPHA:84
HP:0000365	Hearing impairment	79728	PALB2	ORPHA:84
HP:0000365	Hearing impairment	2072	ERCC4	ORPHA:84
HP:0000365	Hearing impairment	2072	ERCC4	ORPHA:90321
HP:0000365	Hearing impairment	2072	ERCC4	OMIM:610965
HP:0000365	Hearing impairment	2072	ERCC4	ORPHA:910
HP:0000365	Hearing impairment	2072	ERCC4	OMIM:278760
HP:0000365	Hearing impairment	2072	ERCC4	ORPHA:220295
HP:0000365	Hearing impairment	55215	FANCI	ORPHA:84
HP:0000365	Hearing impairment	2260	FGFR1	ORPHA:93258
HP:0000365	Hearing impairment	10367	MICU1	ORPHA:401768
HP:0000365	Hearing impairment	6687	SPG7	OMIM:607259
HP:0000365	Hearing impairment	215	ABCD1	OMIM:300100
HP:0000365	Hearing impairment	215	ABCD1	ORPHA:139396
HP:0000365	Hearing impairment	9896	FIG4	ORPHA:3472
HP:0000365	Hearing impairment	9896	FIG4	ORPHA:208441
HP:0000365	Hearing impairment	55697	VAC14	ORPHA:3472
HP:0000365	Hearing impairment	9445	ITM2B	OMIM:117300
HP:0000365	Hearing impairment	9184	BUB3	ORPHA:1052
HP:0000365	Hearing impairment	699	BUB1	ORPHA:1052
HP:0000365	Hearing impairment	9702	CEP57	ORPHA:1052
HP:0000365	Hearing impairment	9702	CEP57	OMIM:614114
HP:0000365	Hearing impairment	9319	TRIP13	ORPHA:1052
HP:0000365	Hearing impairment	701	BUB1B	ORPHA:1052
HP:0000365	Hearing impairment	1906	EDN1	ORPHA:137888
HP:0000365	Hearing impairment	5332	PLCB4	ORPHA:137888
HP:0000365	Hearing impairment	5332	PLCB4	OMIM:614669
HP:0000365	Hearing impairment	2773	GNAI3	ORPHA:137888
HP:0000365	Hearing impairment	25942	SIN3A	OMIM:613406
HP:0000365	Hearing impairment	25942	SIN3A	ORPHA:500166
HP:0000365	Hearing impairment	25942	SIN3A	ORPHA:94065
HP:0000365	Hearing impairment	3425	IDUA	OMIM:607014
HP:0000365	Hearing impairment	3425	IDUA	ORPHA:93473
HP:0000365	Hearing impairment	9487	PIGL	ORPHA:3474
HP:0000365	Hearing impairment	113278	SLC52A3	OMIM:211530
HP:0000365	Hearing impairment	2395	FXN	ORPHA:95
HP:0000365	Hearing impairment	3475	IFRD1	ORPHA:98771
HP:0000365	Hearing impairment	3735	KARS1	OMIM:619196
HP:0000365	Hearing impairment	1798	DPAGT1	ORPHA:86309
HP:0000365	Hearing impairment	3769	KCNJ13	ORPHA:65
HP:0000365	Hearing impairment	343035	RD3	ORPHA:65
HP:0000365	Hearing impairment	145226	RDH12	ORPHA:65
HP:0000365	Hearing impairment	1406	CRX	ORPHA:65
HP:0000365	Hearing impairment	64802	NMNAT1	ORPHA:65
HP:0000365	Hearing impairment	57096	RPGRIP1	ORPHA:65
HP:0000365	Hearing impairment	10383	TUBB4B	ORPHA:65
HP:0000365	Hearing impairment	9742	IFT140	ORPHA:65
HP:0000365	Hearing impairment	85015	USP45	ORPHA:65
HP:0000365	Hearing impairment	6121	RPE65	ORPHA:65
HP:0000365	Hearing impairment	23418	CRB1	ORPHA:65
HP:0000365	Hearing impairment	5130	PCYT1A	ORPHA:65
HP:0000365	Hearing impairment	9657	IQCB1	ORPHA:65
HP:0000365	Hearing impairment	392255	GDF6	ORPHA:65
HP:0000365	Hearing impairment	392255	GDF6	ORPHA:2345
HP:0000365	Hearing impairment	392255	GDF6	OMIM:118100
HP:0000365	Hearing impairment	23746	AIPL1	ORPHA:65
HP:0000365	Hearing impairment	3000	GUCY2D	ORPHA:65
HP:0000365	Hearing impairment	9227	LRAT	ORPHA:65
HP:0000365	Hearing impairment	55812	SPATA7	ORPHA:65
HP:0000365	Hearing impairment	7287	TULP1	ORPHA:65
HP:0000365	Hearing impairment	167691	LCA5	ORPHA:65
HP:0000365	Hearing impairment	3614	IMPDH1	ORPHA:65
HP:0000365	Hearing impairment	7025	NR2F1	ORPHA:401777
HP:0000365	Hearing impairment	114548	NLRP3	OMIM:191900
HP:0000365	Hearing impairment	114548	NLRP3	ORPHA:1451
HP:0000365	Hearing impairment	114548	NLRP3	OMIM:120100
HP:0000365	Hearing impairment	114548	NLRP3	OMIM:607115
HP:0000365	Hearing impairment	6135	RPL11	OMIM:612562
HP:0000365	Hearing impairment	5376	PMP22	OMIM:118220
HP:0000365	Hearing impairment	3035	HARS1	OMIM:614504
HP:0000365	Hearing impairment	84720	PIGO	OMIM:614749
HP:0000365	Hearing impairment	3748	KCNC3	ORPHA:98768
HP:0000365	Hearing impairment	3748	KCNC3	OMIM:605259
HP:0000365	Hearing impairment	10907	TXNL4A	OMIM:608572
HP:0000365	Hearing impairment	2255	FGF10	OMIM:620193
HP:0000365	Hearing impairment	4036	LRP2	OMIM:222448
HP:0000365	Hearing impairment	79228	THOC6	ORPHA:363444
HP:0000365	Hearing impairment	2934	GSN	ORPHA:85448
HP:0000365	Hearing impairment	8481	OFD1	OMIM:311200
HP:0000365	Hearing impairment	8481	OFD1	ORPHA:2750
HP:0000365	Hearing impairment	8481	OFD1	ORPHA:244
HP:0000365	Hearing impairment	415	ARSL	OMIM:302950
HP:0000365	Hearing impairment	64116	SLC39A8	ORPHA:468699
HP:0000365	Hearing impairment	64116	SLC39A8	OMIM:616721
HP:0000365	Hearing impairment	10682	EBP	OMIM:302960
HP:0000365	Hearing impairment	1186	CLCN7	ORPHA:53
HP:0000365	Hearing impairment	1186	CLCN7	ORPHA:667
HP:0000365	Hearing impairment	9573	GDF3	ORPHA:2345
HP:0000365	Hearing impairment	4222	MEOX1	ORPHA:2345
HP:0000365	Hearing impairment	7319	UBE2A	ORPHA:163956
HP:0000365	Hearing impairment	9894	TELO2	OMIM:616954
HP:0000365	Hearing impairment	9894	TELO2	ORPHA:488642
HP:0000365	Hearing impairment	4089	SMAD4	ORPHA:2588
HP:0000365	Hearing impairment	4089	SMAD4	OMIM:139210
HP:0000365	Hearing impairment	10075	HUWE1	OMIM:309590
HP:0000365	Hearing impairment	10735	STAG2	OMIM:301043
HP:0000365	Hearing impairment	84627	ZNF469	OMIM:229200
HP:0000365	Hearing impairment	5648	MASP1	OMIM:257920
HP:0000365	Hearing impairment	5648	MASP1	ORPHA:293843
HP:0000365	Hearing impairment	55593	OTUD5	OMIM:301056
HP:0000365	Hearing impairment	79587	CARS2	ORPHA:477774
HP:0000365	Hearing impairment	79587	CARS2	OMIM:616672
HP:0000365	Hearing impairment	10229	COQ7	OMIM:616733
HP:0000365	Hearing impairment	83479	DDX59	OMIM:174300
HP:0000365	Hearing impairment	5076	PAX2	ORPHA:1475
HP:0000365	Hearing impairment	117581	TWIST2	ORPHA:1231
HP:0000365	Hearing impairment	117581	TWIST2	OMIM:209885
HP:0000365	Hearing impairment	117581	TWIST2	OMIM:200110
HP:0000365	Hearing impairment	117581	TWIST2	ORPHA:920
HP:0000365	Hearing impairment	4000	LMNA	ORPHA:90153
HP:0000365	Hearing impairment	10651	MTX2	ORPHA:90153
HP:0000365	Hearing impairment	85358	SHANK3	ORPHA:48652
HP:0000365	Hearing impairment	85358	SHANK3	OMIM:606232
HP:0000365	Hearing impairment	6597	SMARCA4	ORPHA:1465
HP:0000365	Hearing impairment	6597	SMARCA4	OMIM:614609
HP:0000365	Hearing impairment	6598	SMARCB1	ORPHA:1465
HP:0000365	Hearing impairment	6598	SMARCB1	OMIM:614608
HP:0000365	Hearing impairment	6659	SOX4	ORPHA:1465
HP:0000365	Hearing impairment	8289	ARID1A	ORPHA:1465
HP:0000365	Hearing impairment	8289	ARID1A	OMIM:614607
HP:0000365	Hearing impairment	5977	DPF2	ORPHA:1465
HP:0000365	Hearing impairment	5977	DPF2	OMIM:618027
HP:0000365	Hearing impairment	6601	SMARCC2	ORPHA:1465
HP:0000365	Hearing impairment	6602	SMARCD1	ORPHA:1465
HP:0000365	Hearing impairment	57492	ARID1B	ORPHA:1465
HP:0000365	Hearing impairment	57492	ARID1B	OMIM:135900
HP:0000365	Hearing impairment	196528	ARID2	ORPHA:1465
HP:0000365	Hearing impairment	6605	SMARCE1	ORPHA:1465
HP:0000365	Hearing impairment	6664	SOX11	ORPHA:1465
HP:0000365	Hearing impairment	2917	GRM7	OMIM:618922
HP:0000365	Hearing impairment	81620	CDT1	ORPHA:2554
HP:0000365	Hearing impairment	5000	ORC4	ORPHA:2554
HP:0000365	Hearing impairment	23594	ORC6	ORPHA:2554
HP:0000365	Hearing impairment	990	CDC6	ORPHA:2554
HP:0000365	Hearing impairment	51053	GMNN	ORPHA:2554
HP:0000365	Hearing impairment	54539	NDUFB11	ORPHA:2556
HP:0000365	Hearing impairment	54539	NDUFB11	OMIM:309801
HP:0000365	Hearing impairment	1349	COX7B	ORPHA:2556
HP:0000365	Hearing impairment	1349	COX7B	OMIM:309801
HP:0000365	Hearing impairment	3052	HCCS	ORPHA:2556
HP:0000365	Hearing impairment	3052	HCCS	OMIM:309801
HP:0000365	Hearing impairment	4982	TNFRSF11B	OMIM:239000
HP:0000365	Hearing impairment	4982	TNFRSF11B	ORPHA:2801
HP:0000365	Hearing impairment	10943	MSL3	OMIM:301032
HP:0000365	Hearing impairment	860	RUNX2	ORPHA:1452
HP:0000365	Hearing impairment	860	RUNX2	OMIM:119600
HP:0000365	Hearing impairment	4758	NEU1	ORPHA:93400
HP:0000365	Hearing impairment	4758	NEU1	ORPHA:93399
HP:0000365	Hearing impairment	71	ACTG1	OMIM:614583
HP:0000365	Hearing impairment	5167	ENPP1	ORPHA:51608
HP:0000365	Hearing impairment	368	ABCC6	ORPHA:51608
HP:0000365	Hearing impairment	7249	TSC2	OMIM:613254
HP:0000365	Hearing impairment	3458	IFNG	OMIM:613254
HP:0000365	Hearing impairment	998	CDC42	ORPHA:487796
HP:0000365	Hearing impairment	10804	GJB6	ORPHA:189
HP:0000365	Hearing impairment	10804	GJB6	OMIM:612645
HP:0000365	Hearing impairment	1836	SLC26A2	OMIM:222600
HP:0000365	Hearing impairment	1836	SLC26A2	ORPHA:628
HP:0000365	Hearing impairment	55617	TASP1	OMIM:618950
HP:0000365	Hearing impairment	114928	GPRASP2	OMIM:301018
HP:0000365	Hearing impairment	1786	DNMT1	OMIM:614116
HP:0000365	Hearing impairment	6389	SDHA	ORPHA:255241
HP:0000365	Hearing impairment	80704	SLC19A3	ORPHA:255241
HP:0000365	Hearing impairment	91942	NDUFAF2	ORPHA:255241
HP:0000365	Hearing impairment	6834	SURF1	ORPHA:255241
HP:0000365	Hearing impairment	6834	SURF1	OMIM:616684
HP:0000365	Hearing impairment	6834	SURF1	ORPHA:70474
HP:0000365	Hearing impairment	4723	NDUFV1	ORPHA:255241
HP:0000365	Hearing impairment	55572	FOXRED1	ORPHA:255241
HP:0000365	Hearing impairment	4729	NDUFV2	ORPHA:255241
HP:0000365	Hearing impairment	55967	NDUFA12	ORPHA:255241
HP:0000365	Hearing impairment	51204	TACO1	ORPHA:255241
HP:0000365	Hearing impairment	4720	NDUFS2	ORPHA:255241
HP:0000365	Hearing impairment	4720	NDUFS2	ORPHA:70474
HP:0000365	Hearing impairment	4724	NDUFS4	ORPHA:255241
HP:0000365	Hearing impairment	4728	NDUFS8	ORPHA:255241
HP:0000365	Hearing impairment	137682	NDUFAF6	ORPHA:255241
HP:0000365	Hearing impairment	4722	NDUFS3	ORPHA:255241
HP:0000365	Hearing impairment	79133	NDUFAF5	ORPHA:255241
HP:0000365	Hearing impairment	5160	PDHA1	ORPHA:255241
HP:0000365	Hearing impairment	100131801	PET100	ORPHA:255241
HP:0000365	Hearing impairment	1355	COX15	ORPHA:255241
HP:0000365	Hearing impairment	1892	ECHS1	ORPHA:255241
HP:0000365	Hearing impairment	1892	ECHS1	OMIM:616277
HP:0000365	Hearing impairment	123263	MTFMT	ORPHA:255241
HP:0000365	Hearing impairment	51079	NDUFA13	ORPHA:255241
HP:0000365	Hearing impairment	51079	NDUFA13	OMIM:618249
HP:0000365	Hearing impairment	374291	NDUFS7	ORPHA:255241
HP:0000365	Hearing impairment	4705	NDUFA10	ORPHA:255241
HP:0000365	Hearing impairment	51601	LIPT1	ORPHA:255241
HP:0000365	Hearing impairment	4719	NDUFS1	ORPHA:255241
HP:0000365	Hearing impairment	4695	NDUFA2	ORPHA:255241
HP:0000365	Hearing impairment	4697	NDUFA4	ORPHA:255241
HP:0000365	Hearing impairment	4704	NDUFA9	ORPHA:255241
HP:0000365	Hearing impairment	4704	NDUFA9	OMIM:618247
HP:0000365	Hearing impairment	4094	MAF	OMIM:601088
HP:0000365	Hearing impairment	259266	ASPM	OMIM:608716
HP:0000365	Hearing impairment	6651	SON	ORPHA:500150
HP:0000365	Hearing impairment	23558	WBP2	OMIM:617639
HP:0000365	Hearing impairment	64787	EPS8L2	OMIM:617637
HP:0000365	Hearing impairment	79784	MYH14	OMIM:614369
HP:0000365	Hearing impairment	4621	MYH3	ORPHA:2990
HP:0000365	Hearing impairment	4621	MYH3	OMIM:178110
HP:0000365	Hearing impairment	4621	MYH3	OMIM:193700
HP:0000365	Hearing impairment	4621	MYH3	ORPHA:2053
HP:0000365	Hearing impairment	1146	CHRNG	ORPHA:2990
HP:0000365	Hearing impairment	5286	PIK3C2A	ORPHA:557003
HP:0000365	Hearing impairment	5286	PIK3C2A	OMIM:618440
HP:0000365	Hearing impairment	5205	ATP8B1	OMIM:243300
HP:0000365	Hearing impairment	87178	PNPT1	OMIM:608703
HP:0000365	Hearing impairment	87178	PNPT1	OMIM:614934
HP:0000365	Hearing impairment	23309	SIN3B	ORPHA:500166
HP:0000365	Hearing impairment	1468	SLC25A10	OMIM:618972
HP:0000365	Hearing impairment	5087	PBX1	OMIM:617641
HP:0000365	Hearing impairment	4747	NEFL	OMIM:617882
HP:0000365	Hearing impairment	389207	GRXCR1	OMIM:613285
HP:0000365	Hearing impairment	4281	MID1	ORPHA:2745
HP:0000365	Hearing impairment	8398	PLA2G6	OMIM:256600
HP:0000365	Hearing impairment	242	ALOX12B	ORPHA:79394
HP:0000365	Hearing impairment	204219	CERS3	ORPHA:79394
HP:0000365	Hearing impairment	26154	ABCA12	ORPHA:79394
HP:0000365	Hearing impairment	285848	PNPLA1	ORPHA:79394
HP:0000365	Hearing impairment	59344	ALOXE3	ORPHA:79394
HP:0000365	Hearing impairment	348938	NIPAL4	ORPHA:79394
HP:0000365	Hearing impairment	7051	TGM1	ORPHA:79394
HP:0000365	Hearing impairment	352909	DNAAF3	OMIM:606763
HP:0000365	Hearing impairment	352909	DNAAF3	ORPHA:244
HP:0000365	Hearing impairment	10617	STAMBP	OMIM:614261
HP:0000365	Hearing impairment	8367	H4C5	OMIM:619950
HP:0000365	Hearing impairment	8294	H4C9	OMIM:619951
HP:0000365	Hearing impairment	55823	VPS11	OMIM:616683
HP:0000365	Hearing impairment	22880	MORC2	OMIM:616688
HP:0000365	Hearing impairment	22880	MORC2	OMIM:619090
HP:0000365	Hearing impairment	22880	MORC2	ORPHA:466768
HP:0000365	Hearing impairment	4047	LSS	ORPHA:2850
HP:0000365	Hearing impairment	197	AHSG	ORPHA:2850
HP:0000365	Hearing impairment	3694	ITGB6	ORPHA:2850
HP:0000365	Hearing impairment	1161	ERCC8	ORPHA:90321
HP:0000365	Hearing impairment	1161	ERCC8	ORPHA:90322
HP:0000365	Hearing impairment	2074	ERCC6	ORPHA:90321
HP:0000365	Hearing impairment	2074	ERCC6	ORPHA:90322
HP:0000365	Hearing impairment	2067	ERCC1	ORPHA:90322
HP:0000365	Hearing impairment	6720	SREBF1	OMIM:158310
HP:0000365	Hearing impairment	114803	MYSM1	ORPHA:508542
HP:0000365	Hearing impairment	4522	MTHFD1	OMIM:617780
HP:0000365	Hearing impairment	3021	H3-3B	OMIM:619721
HP:0000365	Hearing impairment	79639	TMEM53	OMIM:619727
HP:0000365	Hearing impairment	23562	CLDN14	OMIM:614035
HP:0000365	Hearing impairment	10730	YME1L1	OMIM:617302
HP:0000365	Hearing impairment	7086	TKT	ORPHA:488618
HP:0000365	Hearing impairment	137492	VPS37A	ORPHA:319199
HP:0000365	Hearing impairment	10584	COLEC10	OMIM:248340
HP:0000365	Hearing impairment	10584	COLEC10	ORPHA:293843
HP:0000365	Hearing impairment	284058	KANSL1	ORPHA:363958
HP:0000365	Hearing impairment	284058	KANSL1	ORPHA:363965
HP:0000365	Hearing impairment	9469	CHST3	OMIM:143095
HP:0000365	Hearing impairment	91869	RFT1	ORPHA:244310
HP:0000365	Hearing impairment	7021	TFAP2B	ORPHA:46627
HP:0000365	Hearing impairment	90993	CREB3L1	OMIM:616229
HP:0000365	Hearing impairment	1009	CDH11	OMIM:619736
HP:0000365	Hearing impairment	64359	NXN	ORPHA:1507
HP:0000365	Hearing impairment	4920	ROR2	ORPHA:1507
HP:0000365	Hearing impairment	7020	TFAP2A	OMIM:113620
HP:0000365	Hearing impairment	652	BMP4	OMIM:607932
HP:0000365	Hearing impairment	10815	CPLX1	ORPHA:280
HP:0000365	Hearing impairment	54872	PIGG	ORPHA:280
HP:0000365	Hearing impairment	7469	NELFA	ORPHA:280
HP:0000365	Hearing impairment	1487	CTBP1	ORPHA:280
HP:0000365	Hearing impairment	3954	LETM1	ORPHA:280
HP:0000365	Hearing impairment	7468	NSD2	ORPHA:280
HP:0000365	Hearing impairment	22872	SEC31A	OMIM:618651
HP:0000365	Hearing impairment	7466	WFS1	OMIM:614296
HP:0000365	Hearing impairment	56992	KIF15	OMIM:619981
HP:0000365	Hearing impairment	57178	ZMIZ1	OMIM:618659
HP:0000365	Hearing impairment	79731	NARS2	OMIM:616239
HP:0000365	Hearing impairment	55623	THUMPD1	OMIM:619989
HP:0000365	Hearing impairment	3476	IGBP1	ORPHA:52055
HP:0000365	Hearing impairment	1123	CHN1	ORPHA:233
HP:0000365	Hearing impairment	3981	LIG4	ORPHA:235
HP:0000365	Hearing impairment	54888	NSUN2	ORPHA:235
HP:0000365	Hearing impairment	79633	FAT4	OMIM:616006
HP:0000365	Hearing impairment	79633	FAT4	OMIM:615546
HP:0000365	Hearing impairment	54902	TTC19	OMIM:615157
HP:0000365	Hearing impairment	25981	DNAH1	OMIM:617577
HP:0000365	Hearing impairment	25981	DNAH1	ORPHA:244
HP:0000365	Hearing impairment	285362	SUMF1	OMIM:272200
HP:0000365	Hearing impairment	26137	ZBTB20	OMIM:259050
HP:0000365	Hearing impairment	54928	BPNT2	OMIM:614078
HP:0000365	Hearing impairment	8792	TNFRSF11A	ORPHA:2801
HP:0000365	Hearing impairment	8792	TNFRSF11A	ORPHA:1782
HP:0000365	Hearing impairment	8878	SQSTM1	OMIM:167250
HP:0000365	Hearing impairment	8878	SQSTM1	OMIM:617145
HP:0000365	Hearing impairment	10743	RAI1	ORPHA:1713
HP:0000365	Hearing impairment	10743	RAI1	OMIM:182290
HP:0000365	Hearing impairment	5459	POU4F3	OMIM:602459
HP:0000365	Hearing impairment	2706	GJB2	ORPHA:494
HP:0000365	Hearing impairment	2706	GJB2	OMIM:124500
HP:0000365	Hearing impairment	2706	GJB2	OMIM:149200
HP:0000365	Hearing impairment	2706	GJB2	OMIM:148350
HP:0000365	Hearing impairment	4123	MAN2C1	OMIM:619775
HP:0000365	Hearing impairment	79989	IFT56	OMIM:619534
HP:0000365	Hearing impairment	10195	ALG3	ORPHA:79321
HP:0000365	Hearing impairment	60681	FKBP10	OMIM:610968
HP:0000365	Hearing impairment	115948	ODAD3	ORPHA:244
HP:0000365	Hearing impairment	54768	HYDIN	ORPHA:244
HP:0000365	Hearing impairment	51314	NME8	ORPHA:244
HP:0000365	Hearing impairment	92749	DRC1	ORPHA:244
HP:0000365	Hearing impairment	54970	TTC12	ORPHA:244
HP:0000365	Hearing impairment	152110	NEK10	ORPHA:244
HP:0000365	Hearing impairment	2302	FOXJ1	ORPHA:244
HP:0000365	Hearing impairment	221421	RSPH9	ORPHA:244
HP:0000365	Hearing impairment	85478	CCDC65	ORPHA:244
HP:0000365	Hearing impairment	55036	CCDC40	ORPHA:244
HP:0000365	Hearing impairment	51364	ZMYND10	ORPHA:244
HP:0000365	Hearing impairment	64446	DNAI2	ORPHA:244
HP:0000365	Hearing impairment	6674	SPAG1	ORPHA:244
HP:0000365	Hearing impairment	83544	DNAL1	ORPHA:244
HP:0000365	Hearing impairment	89765	RSPH1	ORPHA:244
HP:0000365	Hearing impairment	83538	ODAD4	ORPHA:244
HP:0000365	Hearing impairment	200373	CFAP221	ORPHA:244
HP:0000365	Hearing impairment	374407	DNAJB13	ORPHA:244
HP:0000365	Hearing impairment	55172	DNAAF2	ORPHA:244
HP:0000365	Hearing impairment	161582	DNAAF4	ORPHA:244
HP:0000365	Hearing impairment	2622	GAS8	ORPHA:244
HP:0000365	Hearing impairment	23639	DNAAF11	ORPHA:244
HP:0000365	Hearing impairment	27019	DNAI1	ORPHA:244
HP:0000365	Hearing impairment	345895	RSPH4A	ORPHA:244
HP:0000365	Hearing impairment	54919	DNAAF5	ORPHA:244
HP:0000365	Hearing impairment	6103	RPGR	ORPHA:244
HP:0000365	Hearing impairment	388389	CCDC103	ORPHA:244
HP:0000365	Hearing impairment	93233	ODAD1	ORPHA:244
HP:0000365	Hearing impairment	55130	ODAD2	ORPHA:244
HP:0000365	Hearing impairment	1767	DNAH5	ORPHA:244
HP:0000365	Hearing impairment	83861	RSPH3	ORPHA:244
HP:0000365	Hearing impairment	345643	MCIDAS	ORPHA:244
HP:0000365	Hearing impairment	56683	CFAP298	ORPHA:244
HP:0000365	Hearing impairment	79925	SPEF2	ORPHA:244
HP:0000365	Hearing impairment	10309	CCNO	ORPHA:244
HP:0000365	Hearing impairment	115399	LRRC56	ORPHA:244
HP:0000365	Hearing impairment	139212	DNAAF6	ORPHA:244
HP:0000365	Hearing impairment	123872	DNAAF1	ORPHA:244
HP:0000365	Hearing impairment	85016	CFAP300	ORPHA:244
HP:0000365	Hearing impairment	339829	CCDC39	ORPHA:244
HP:0000365	Hearing impairment	8701	DNAH11	ORPHA:244
HP:0000365	Hearing impairment	1770	DNAH9	ORPHA:244
HP:0000365	Hearing impairment	246176	GAS2L2	ORPHA:244
HP:0000365	Hearing impairment	79628	SH3TC2	OMIM:601596
HP:0000365	Hearing impairment	29893	PSMC3IP	ORPHA:243
HP:0000365	Hearing impairment	171568	POLR3H	ORPHA:243
HP:0000365	Hearing impairment	2516	NR5A1	ORPHA:243
HP:0000365	Hearing impairment	125150	ZSWIM7	ORPHA:243
HP:0000365	Hearing impairment	9210	BMP15	ORPHA:243
HP:0000365	Hearing impairment	57122	NUP107	ORPHA:243
HP:0000365	Hearing impairment	23514	SPIDR	ORPHA:243
HP:0000365	Hearing impairment	2492	FSHR	ORPHA:243
HP:0000365	Hearing impairment	56945	MRPS22	ORPHA:243
HP:0000365	Hearing impairment	646	BNC1	ORPHA:243
HP:0000365	Hearing impairment	10262	SF3B4	ORPHA:245
HP:0000365	Hearing impairment	23676	SMPX	OMIM:301075
HP:0000365	Hearing impairment	10058	ABCB6	ORPHA:241
HP:0000365	Hearing impairment	8295	TRRAP	OMIM:618454
HP:0000365	Hearing impairment	4509	MT-ATP8	ORPHA:480
HP:0000365	Hearing impairment	4567	MT-TL1	ORPHA:480
HP:0000365	Hearing impairment	5111	PCNA	ORPHA:438134
HP:0000365	Hearing impairment	5277	PIGA	OMIM:301072
HP:0000365	Hearing impairment	5277	PIGA	OMIM:300868
HP:0000365	Hearing impairment	204	AK2	ORPHA:33355
HP:0000365	Hearing impairment	54808	DYM	ORPHA:239
HP:0000365	Hearing impairment	3912	LAMB1	OMIM:615191
HP:0000365	Hearing impairment	79879	CCDC134	OMIM:619795
HP:0000365	Hearing impairment	23013	SPEN	OMIM:619312
HP:0000365	Hearing impairment	127833	SYT2	OMIM:616040
HP:0000365	Hearing impairment	55628	ZNF407	OMIM:619557
HP:0000365	Hearing impairment	23345	SYNE1	OMIM:610743
HP:0000365	Hearing impairment	29887	SNX10	ORPHA:667
HP:0000365	Hearing impairment	8600	TNFSF11	ORPHA:667
HP:0000365	Hearing impairment	55869	HDAC8	OMIM:300882
HP:0000365	Hearing impairment	478	ATP1A3	OMIM:601338
HP:0000365	Hearing impairment	29078	NDUFAF4	OMIM:618237
HP:0000365	Hearing impairment	2068	ERCC2	OMIM:610756
HP:0000365	Hearing impairment	2068	ERCC2	ORPHA:910
HP:0000365	Hearing impairment	2068	ERCC2	ORPHA:220295
HP:0000365	Hearing impairment	1908	EDN3	ORPHA:897
HP:0000365	Hearing impairment	4286	MITF	ORPHA:897
HP:0000365	Hearing impairment	4286	MITF	ORPHA:42665
HP:0000365	Hearing impairment	4286	MITF	ORPHA:895
HP:0000365	Hearing impairment	1910	EDNRB	ORPHA:897
HP:0000365	Hearing impairment	1910	EDNRB	ORPHA:895
HP:0000365	Hearing impairment	1910	EDNRB	OMIM:600501
HP:0000365	Hearing impairment	5077	PAX3	ORPHA:896
HP:0000365	Hearing impairment	5077	PAX3	ORPHA:894
HP:0000365	Hearing impairment	9126	SMC3	OMIM:610759
HP:0000365	Hearing impairment	79944	L2HGDH	OMIM:236792
HP:0000365	Hearing impairment	4942	OAT	ORPHA:414
HP:0000365	Hearing impairment	8869	ST3GAL5	OMIM:609056
HP:0000365	Hearing impairment	79955	PDZD7	OMIM:618003
HP:0000365	Hearing impairment	51473	DCDC2	OMIM:617394
HP:0000365	Hearing impairment	1108	CHD4	OMIM:617159
HP:0000365	Hearing impairment	29920	PYCR2	ORPHA:481152
HP:0000365	Hearing impairment	29920	PYCR2	OMIM:616420
HP:0000365	Hearing impairment	2077	ERF	ORPHA:207
HP:0000365	Hearing impairment	23389	MED13L	ORPHA:369891
HP:0000365	Hearing impairment	2898	GRIK2	OMIM:619580
HP:0000365	Hearing impairment	10483	SEC23B	ORPHA:201
HP:0000365	Hearing impairment	5728	PTEN	ORPHA:201
HP:0000365	Hearing impairment	5728	PTEN	OMIM:158350
HP:0000365	Hearing impairment	207	AKT1	ORPHA:201
HP:0000365	Hearing impairment	207	AKT1	OMIM:615109
HP:0000365	Hearing impairment	205717	USF3	ORPHA:201
HP:0000365	Hearing impairment	5290	PIK3CA	ORPHA:201
HP:0000365	Hearing impairment	5290	PIK3CA	OMIM:615108
HP:0000365	Hearing impairment	100144748	KLLN	ORPHA:201
HP:0000365	Hearing impairment	9496	TBX4	ORPHA:261279
HP:0000365	Hearing impairment	2332	FMR1	OMIM:300623
HP:0000365	Hearing impairment	26276	VPS33B	OMIM:208085
HP:0000365	Hearing impairment	1822	ATN1	OMIM:618494
HP:0000365	Hearing impairment	26040	SETBP1	OMIM:616078
HP:0000365	Hearing impairment	5144	PDE4D	ORPHA:439822
HP:0000365	Hearing impairment	5144	PDE4D	ORPHA:950
HP:0000365	Hearing impairment	5573	PRKAR1A	OMIM:101800
HP:0000365	Hearing impairment	5573	PRKAR1A	ORPHA:950
HP:0000365	Hearing impairment	11340	EXOSC8	OMIM:616081
HP:0000365	Hearing impairment	3975	LHX1	ORPHA:261265
HP:0000365	Hearing impairment	6928	HNF1B	ORPHA:261265
HP:0000365	Hearing impairment	6928	HNF1B	ORPHA:93111
HP:0000365	Hearing impairment	3852	KRT5	OMIM:619599
HP:0000365	Hearing impairment	4041	LRP5	ORPHA:178377
HP:0000365	Hearing impairment	4041	LRP5	ORPHA:891
HP:0000365	Hearing impairment	51604	PIGT	ORPHA:369837
HP:0000365	Hearing impairment	145173	B3GLCT	OMIM:261540
HP:0000365	Hearing impairment	5702	PSMC3	OMIM:619354
HP:0000365	Hearing impairment	440138	ALG11	ORPHA:280071
HP:0000365	Hearing impairment	29123	ANKRD11	ORPHA:261250
HP:0000365	Hearing impairment	57704	GBA2	ORPHA:320391
HP:0000365	Hearing impairment	57704	GBA2	OMIM:614409
HP:0000365	Hearing impairment	6299	SALL1	ORPHA:857
HP:0000365	Hearing impairment	51339	DACT1	ORPHA:857
HP:0000365	Hearing impairment	8911	CACNA1I	OMIM:620114
HP:0000365	Hearing impairment	7299	TYR	ORPHA:895
HP:0000365	Hearing impairment	6591	SNAI2	ORPHA:895
HP:0000365	Hearing impairment	6591	SNAI2	ORPHA:2884
HP:0000365	Hearing impairment	4254	KITLG	ORPHA:895
HP:0000365	Hearing impairment	4693	NDP	ORPHA:891
HP:0000365	Hearing impairment	23554	TSPAN12	ORPHA:891
HP:0000365	Hearing impairment	79797	ZNF408	ORPHA:891
HP:0000365	Hearing impairment	8322	FZD4	ORPHA:891
HP:0000365	Hearing impairment	55898	UNC45A	OMIM:619377
HP:0000365	Hearing impairment	55005	RMND1	OMIM:614922
HP:0000365	Hearing impairment	3295	HSD17B4	OMIM:261515
HP:0000365	Hearing impairment	2581	GALC	ORPHA:206436
HP:0000365	Hearing impairment	2581	GALC	OMIM:245200
HP:0000365	Hearing impairment	5660	PSAP	ORPHA:206436
HP:0000365	Hearing impairment	4508	MT-ATP6	ORPHA:644
HP:0000365	Hearing impairment	79644	SRD5A3	ORPHA:324737
HP:0000365	Hearing impairment	6913	TBX15	OMIM:260660
HP:0000365	Hearing impairment	6913	TBX15	ORPHA:93333
HP:0000365	Hearing impairment	27161	AGO2	OMIM:619149
HP:0000365	Hearing impairment	161742	SPRED1	ORPHA:137605
HP:0000365	Hearing impairment	259232	NALCN	ORPHA:2053
HP:0000365	Hearing impairment	8506	CNTNAP1	OMIM:618186
HP:0000365	Hearing impairment	80207	OPA3	OMIM:165300
HP:0000365	Hearing impairment	8496	PPFIBP1	OMIM:620024
HP:0000365	Hearing impairment	132158	GLYCTK	ORPHA:941
HP:0000365	Hearing impairment	374654	KIF7	OMIM:200990
HP:0000365	Hearing impairment	5689	PSMB1	OMIM:620038
HP:0000365	Hearing impairment	10134	BCAP31	ORPHA:369939
HP:0000365	Hearing impairment	26277	TINF2	OMIM:613990
HP:0000365	Hearing impairment	26277	TINF2	ORPHA:1775
HP:0000365	Hearing impairment	9739	SETD1A	OMIM:619056
HP:0000365	Hearing impairment	55037	PTCD3	OMIM:619057
HP:0000365	Hearing impairment	84823	LMNB2	ORPHA:79087
HP:0000365	Hearing impairment	7276	TTR	OMIM:105210
HP:0000365	Hearing impairment	8802	SUCLG1	OMIM:245400
HP:0000365	Hearing impairment	1717	DHCR7	OMIM:270400
HP:0000365	Hearing impairment	2720	GLB1	OMIM:253010
HP:0000365	Hearing impairment	2720	GLB1	ORPHA:79255
HP:0000365	Hearing impairment	649	BMP1	OMIM:614856
HP:0000365	Hearing impairment	57465	TBC1D24	OMIM:614617
HP:0000365	Hearing impairment	57465	TBC1D24	OMIM:220500
HP:0000365	Hearing impairment	4853	NOTCH2	ORPHA:955
HP:0000365	Hearing impairment	10558	SPTLC1	ORPHA:36386
HP:0000365	Hearing impairment	25923	ATL3	ORPHA:36386
HP:0000365	Hearing impairment	9517	SPTLC2	ORPHA:36386
HP:0000365	Hearing impairment	51062	ATL1	ORPHA:36386
HP:0000365	Hearing impairment	2615	LRRC32	OMIM:619074
HP:0000365	Hearing impairment	443	ASPA	OMIM:271900
HP:0000365	Hearing impairment	259236	TMIE	OMIM:600971
HP:0000365	Hearing impairment	8905	AP1S2	ORPHA:85335
HP:0000365	Hearing impairment	1857	DVL3	ORPHA:3107
HP:0000365	Hearing impairment	1857	DVL3	OMIM:616894
HP:0000365	Hearing impairment	7474	WNT5A	ORPHA:3107
HP:0000365	Hearing impairment	2535	FZD2	ORPHA:3107
HP:0000365	Hearing impairment	8626	TP63	OMIM:129400
HP:0000365	Hearing impairment	8626	TP63	OMIM:604292
HP:0000365	Hearing impairment	9289	ADGRG1	ORPHA:98889
HP:0000365	Hearing impairment	5297	PI4KA	ORPHA:98889
HP:0000365	Hearing impairment	27286	SRPX2	ORPHA:98889
HP:0000365	Hearing impairment	5700	PSMC1	OMIM:620071
HP:0000365	Hearing impairment	78989	COLEC11	OMIM:265050
HP:0000365	Hearing impairment	78989	COLEC11	ORPHA:293843
HP:0000365	Hearing impairment	58508	KMT2C	ORPHA:261652
HP:0000365	Hearing impairment	2548	GAA	ORPHA:308552
HP:0000365	Hearing impairment	2548	GAA	OMIM:232300
HP:0000365	Hearing impairment	3845	KRAS	ORPHA:3339
HP:0000365	Hearing impairment	84919	PPP1R15B	OMIM:616817
HP:0000365	Hearing impairment	6231	RPS26	OMIM:613309
HP:0000365	Hearing impairment	9968	MED12	OMIM:300895
HP:0000365	Hearing impairment	3329	HSPD1	ORPHA:100994
HP:0000365	Hearing impairment	80067	DCAF17	OMIM:241080
HP:0000365	Hearing impairment	3798	KIF5A	ORPHA:100991
HP:0000365	Hearing impairment	2317	FLNB	OMIM:150250
HP:0000365	Hearing impairment	25861	WHRN	OMIM:611383
HP:0000365	Hearing impairment	776	CACNA1D	OMIM:614896
HP:0000365	Hearing impairment	23590	PDSS1	OMIM:614651
HP:0000365	Hearing impairment	91147	TMEM67	ORPHA:140976
HP:0000365	Hearing impairment	51475	CABP2	OMIM:614899
HP:0000365	Hearing impairment	2719	GPC3	OMIM:312870
HP:0000365	Hearing impairment	2239	GPC4	OMIM:312870
HP:0000365	Hearing impairment	27152	INTU	OMIM:617926
HP:0000365	Hearing impairment	865	CBFB	OMIM:620099
HP:0000365	Hearing impairment	7507	XPA	ORPHA:910
HP:0000365	Hearing impairment	2071	ERCC3	ORPHA:910
HP:0000365	Hearing impairment	2071	ERCC3	ORPHA:220295
HP:0000365	Hearing impairment	7508	XPC	ORPHA:910
HP:0000365	Hearing impairment	1643	DDB2	ORPHA:910
HP:0000365	Hearing impairment	2073	ERCC5	ORPHA:910
HP:0000365	Hearing impairment	2073	ERCC5	ORPHA:220295
HP:0000365	Hearing impairment	6938	TCF12	ORPHA:35099
HP:0000365	Hearing impairment	7545	ZIC1	ORPHA:35099
HP:0000365	Hearing impairment	92935	MARS2	OMIM:611390
HP:0000365	Hearing impairment	9780	PIEZO1	OMIM:616843
HP:0000365	Hearing impairment	29926	GMPPA	OMIM:615510
HP:0000365	Hearing impairment	411	ARSB	OMIM:253200
HP:0000365	Hearing impairment	113179	ADAT3	ORPHA:363528
HP:0000365	Hearing impairment	55784	MCTP2	ORPHA:1596
HP:0000365	Hearing impairment	6657	SOX2	ORPHA:77298
HP:0000365	Hearing impairment	9512	PMPCB	OMIM:617954
HP:0000365	Hearing impairment	686	BTD	ORPHA:79241
HP:0000365	Hearing impairment	2232	FDXR	OMIM:617717
HP:0000365	Hearing impairment	2248	FGF3	ORPHA:90024
HP:0000365	Hearing impairment	7421	VDR	OMIM:277440
HP:0000365	Hearing impairment	54658	UGT1A1	ORPHA:79234
HP:0000365	Hearing impairment	4771	NF2	OMIM:101000
HP:0000365	Hearing impairment	7874	USP7	ORPHA:500055
HP:0000365	Hearing impairment	2643	GCH1	ORPHA:98808
HP:0000365	Hearing impairment	4929	NR4A2	ORPHA:98808
HP:0000365	Hearing impairment	3615	IMPDH2	ORPHA:98808
HP:0000365	Hearing impairment	2588	GALNS	OMIM:253000
HP:0000365	Hearing impairment	23233	EXOC6B	ORPHA:93359
HP:0000365	Hearing impairment	126792	B3GALT6	ORPHA:93359
HP:0000365	Hearing impairment	51002	TPRKB	OMIM:617731
HP:0000365	Hearing impairment	8405	SPOP	OMIM:618828
HP:0000365	Hearing impairment	25915	NDUFAF3	ORPHA:70474
HP:0000365	Hearing impairment	4714	NDUFB8	ORPHA:70474
HP:0000365	Hearing impairment	9997	SCO2	ORPHA:70474
HP:0000365	Hearing impairment	23630	KCNE5	ORPHA:86818
HP:0000365	Hearing impairment	2182	ACSL4	ORPHA:86818
HP:0000365	Hearing impairment	9949	AMMECR1	ORPHA:86818
HP:0000365	Hearing impairment	55278	QRSL1	OMIM:618835
HP:0000365	Hearing impairment	5188	GATB	OMIM:618838
HP:0000365	Hearing impairment	283459	GATC	OMIM:618839
HP:0000365	Hearing impairment	3815	KIT	ORPHA:2884
HP:0000365	Hearing impairment	8241	RBM10	ORPHA:2886
HP:0000365	Hearing impairment	25782	RAB3GAP2	ORPHA:401830
HP:0000365	Hearing impairment	210	ALAD	ORPHA:100924
HP:0000365	Hearing impairment	374462	PTPRQ	OMIM:613391
HP:0000365	Hearing impairment	9197	SLC33A1	OMIM:614482
HP:0000365	Hearing impairment	51780	KDM3B	OMIM:618846
HP:0000365	Hearing impairment	1663	DDX11	OMIM:613398
HP:0000365	Hearing impairment	2990	GUSB	OMIM:253220
HP:0000365	Hearing impairment	4668	NAGA	ORPHA:79280
HP:0000365	Hearing impairment	4668	NAGA	ORPHA:79279
HP:0000365	Hearing impairment	5718	PSMD12	OMIM:617516
HP:0000365	Hearing impairment	23592	LEMD3	ORPHA:1306
HP:0000365	Hearing impairment	4848	CNOT2	OMIM:618608
HP:0000365	Hearing impairment	23404	EXOSC2	OMIM:617763
HP:0000365	Hearing impairment	8803	SUCLA2	OMIM:612073
HP:0000365	Hearing impairment	2036	EPB41L1	OMIM:614257
HP:0000365	Hearing impairment	80169	CTC1	ORPHA:1775
HP:0000365	Hearing impairment	55651	NHP2	ORPHA:1775
HP:0000365	Hearing impairment	79650	USB1	ORPHA:1775
HP:0000365	Hearing impairment	55135	WRAP53	ORPHA:1775
HP:0000365	Hearing impairment	51750	RTEL1	ORPHA:1775
HP:0000365	Hearing impairment	4869	NPM1	ORPHA:1775
HP:0000365	Hearing impairment	7012	TERC	ORPHA:1775
HP:0000365	Hearing impairment	55505	NOP10	ORPHA:1775
HP:0000365	Hearing impairment	5073	PARN	ORPHA:1775
HP:0000365	Hearing impairment	7015	TERT	ORPHA:1775
HP:0000365	Hearing impairment	1736	DKC1	ORPHA:1775
HP:0000365	Hearing impairment	7298	TYMS	ORPHA:1775
HP:0000365	Hearing impairment	6736	SRY	ORPHA:1772
HP:0000365	Hearing impairment	55753	OGDHL	OMIM:619701
HP:0000365	Hearing impairment	58499	ZNF462	OMIM:618619
HP:0000365	Hearing impairment	5604	MAP2K1	OMIM:163950
HP:0000365	Hearing impairment	5781	PTPN11	OMIM:163950
HP:0000365	Hearing impairment	2737	GLI3	ORPHA:93322
HP:0000365	Hearing impairment	3479	IGF1	ORPHA:73272
HP:0000365	Hearing impairment	491	ATP2B2	OMIM:601386
HP:0000365	Hearing impairment	126326	GIPC3	OMIM:601869
HP:0000365	Hearing impairment	83715	ESPN	OMIM:618632
HP:0000365	Hearing impairment	153562	MARVELD2	OMIM:610153
HP:0000365	Hearing impairment	107	ADCY1	OMIM:610154
HP:0000365	Hearing impairment	55699	IARS2	ORPHA:436174
HP:0000365	Hearing impairment	9750	RIPOR2	OMIM:616515
HP:0000365	Hearing impairment	3082	HGF	OMIM:608265
HP:0000365	Hearing impairment	10194	TSHZ1	OMIM:607842
HP:0000365	Hearing impairment	341640	FREM2	ORPHA:2052
HP:0000365	Hearing impairment	80144	FRAS1	ORPHA:2052
HP:0000365	Hearing impairment	80144	FRAS1	OMIM:219000
HP:0000365	Hearing impairment	23426	GRIP1	ORPHA:2052
HP:0000365	Hearing impairment	6228	RPS23	OMIM:617412
HP:0000365	Hearing impairment	5447	POR	ORPHA:95699
HP:0000365	Hearing impairment	5447	POR	OMIM:201750
HP:0000365	Hearing impairment	4487	MSX1	ORPHA:199302
HP:0000365	Hearing impairment	4487	MSX1	ORPHA:199306
HP:0000365	Hearing impairment	5818	NECTIN1	ORPHA:199302
HP:0000365	Hearing impairment	5818	NECTIN1	ORPHA:199306
HP:0000365	Hearing impairment	3664	IRF6	ORPHA:199302
HP:0000365	Hearing impairment	3664	IRF6	ORPHA:199306
HP:0000365	Hearing impairment	1739	DLG1	ORPHA:199306
HP:0000365	Hearing impairment	999	CDH1	ORPHA:199306
HP:0000365	Hearing impairment	999	CDH1	ORPHA:1997
HP:0000365	Hearing impairment	5156	PDGFRA	ORPHA:199306
HP:0000365	Hearing impairment	9411	ARHGAP29	ORPHA:199306
HP:0000365	Hearing impairment	1748	DLX4	ORPHA:199306
HP:0000365	Hearing impairment	1723	DHODH	OMIM:263750
HP:0000365	Hearing impairment	1723	DHODH	ORPHA:246
HP:0000365	Hearing impairment	2314	FLII	ORPHA:819
HP:0000365	Hearing impairment	23096	IQSEC2	ORPHA:819
HP:0000365	Hearing impairment	10522	DEAF1	ORPHA:819
HP:0000365	Hearing impairment	10847	SRCAP	ORPHA:2044
HP:0000365	Hearing impairment	10847	SRCAP	OMIM:136140
HP:0000365	Hearing impairment	9382	COG1	OMIM:611209
HP:0000365	Hearing impairment	1500	CTNND1	ORPHA:1997
HP:0000365	Hearing impairment	2590	GALNT2	OMIM:618885
HP:0000365	Hearing impairment	1788	DNMT3A	ORPHA:276621
HP:0000365	Hearing impairment	2034	EPAS1	ORPHA:276621
HP:0000365	Hearing impairment	83879	CDCA7	OMIM:616910
HP:0000365	Hearing impairment	2254	FGF9	ORPHA:3237
HP:0000365	Hearing impairment	3590	IL11RA	OMIM:614188
HP:0000365	Hearing impairment	9508	ADAMTS3	ORPHA:2136
HP:0000365	Hearing impairment	1743	DLST	ORPHA:29072
HP:0000365	Hearing impairment	4191	MDH2	ORPHA:29072
HP:0000365	Hearing impairment	23095	KIF1B	ORPHA:29072
HP:0000365	Hearing impairment	2271	FH	ORPHA:29072
HP:0000365	Hearing impairment	8402	SLC25A11	ORPHA:29072
HP:0000365	Hearing impairment	54949	SDHAF2	ORPHA:29072
HP:0000365	Hearing impairment	55654	TMEM127	ORPHA:29072
HP:0000365	Hearing impairment	4763	NF1	ORPHA:29072
HP:0000365	Hearing impairment	4149	MAX	ORPHA:29072
HP:0000365	Hearing impairment	145258	GSC	OMIM:602471
HP:0000365	Hearing impairment	6628	SNRPB	ORPHA:1393
HP:0000365	Hearing impairment	6628	SNRPB	OMIM:117650
HP:0000365	Hearing impairment	55343	SLC35C1	ORPHA:99843
HP:0000365	Hearing impairment	6949	TCOF1	OMIM:154500
HP:0000365	Hearing impairment	6949	TCOF1	ORPHA:861
HP:0000365	Hearing impairment	9533	POLR1C	OMIM:248390
HP:0000365	Hearing impairment	9533	POLR1C	ORPHA:861
HP:0000365	Hearing impairment	5396	PRRX1	OMIM:202650
HP:0000365	Hearing impairment	7314	UBB	ORPHA:99772
HP:0000365	Hearing impairment	57822	GRHL3	ORPHA:99772
HP:0000365	Hearing impairment	2623	GATA1	OMIM:190685
HP:0000365	Hearing impairment	7703	PCGF2	OMIM:618371
HP:0000365	Hearing impairment	774	CACNA1B	OMIM:618497
HP:0000365	Hearing impairment	139285	AMER1	ORPHA:2780
HP:0000365	Hearing impairment	139285	AMER1	OMIM:300373
HP:0000365	Hearing impairment	9343	EFTUD2	OMIM:610536
HP:0000365	Hearing impairment	9343	EFTUD2	ORPHA:79113
HP:0000365	Hearing impairment	84172	POLR1B	OMIM:618939
HP:0000365	Hearing impairment	84172	POLR1B	ORPHA:861
HP:0000365	Hearing impairment	760	CA2	ORPHA:2785
HP:0000365	Hearing impairment	29957	SLC25A24	ORPHA:2095
HP:0000365	Hearing impairment	29957	SLC25A24	OMIM:612289
HP:0000365	Hearing impairment	65250	CPLANE1	OMIM:277170
HP:0000365	Hearing impairment	65250	CPLANE1	ORPHA:2754
HP:0000365	Hearing impairment	8092	ALX1	ORPHA:306542
HP:0000365	Hearing impairment	28962	OSTM1	ORPHA:85179
HP:0000365	Hearing impairment	246329	STAC3	ORPHA:168572
HP:0000365	Hearing impairment	246329	STAC3	OMIM:255995
HP:0000365	Hearing impairment	2131	EXT1	ORPHA:502
HP:0000365	Hearing impairment	7227	TRPS1	ORPHA:502
HP:0000365	Hearing impairment	51082	POLR1D	ORPHA:861
HP:0000365	Hearing impairment	51082	POLR1D	OMIM:613717
HP:0000365	Hearing impairment	1984	EIF5A	OMIM:619376
HP:0000365	Hearing impairment	650	BMP2	OMIM:617877
HP:0000365	Hearing impairment	4750	NEK1	ORPHA:2751
HP:0000365	Hearing impairment	26123	TCTN3	ORPHA:2753
HP:0000365	Hearing impairment	26123	TCTN3	ORPHA:2754
HP:0000365	Hearing impairment	9851	KIAA0753	ORPHA:2754
HP:0000365	Hearing impairment	5147	PDE6D	ORPHA:2754
HP:0000365	Hearing impairment	51259	TMEM216	ORPHA:2754
HP:0000365	Hearing impairment	90121	TSR2	OMIM:300946
HP:0000365	Hearing impairment	4921	DDR2	OMIM:618175
HP:0000365	Hearing impairment	2549	GAB1	OMIM:605428
HP:0000365	Hearing impairment	9015	TAF1A	ORPHA:154
HP:0000365	Hearing impairment	5663	PSEN1	ORPHA:154
HP:0000365	Hearing impairment	7112	TMPO	ORPHA:154
HP:0000365	Hearing impairment	9464	HAND2	ORPHA:154
HP:0000365	Hearing impairment	4625	MYH7	ORPHA:154
HP:0000365	Hearing impairment	88	ACTN2	ORPHA:154
HP:0000365	Hearing impairment	10486	CAP2	ORPHA:154
HP:0000365	Hearing impairment	10060	ABCC9	ORPHA:154
HP:0000365	Hearing impairment	7168	TPM1	ORPHA:154
HP:0000365	Hearing impairment	7414	VCL	ORPHA:154
HP:0000365	Hearing impairment	1832	DSP	ORPHA:154
HP:0000365	Hearing impairment	70	ACTC1	ORPHA:154
HP:0000365	Hearing impairment	27063	ANKRD1	ORPHA:154
HP:0000365	Hearing impairment	8048	CSRP3	ORPHA:154
HP:0000365	Hearing impairment	1410	CRYAB	ORPHA:154
HP:0000365	Hearing impairment	7139	TNNT2	ORPHA:154
HP:0000365	Hearing impairment	1829	DSG2	ORPHA:154
HP:0000365	Hearing impairment	3910	LAMA4	ORPHA:154
HP:0000365	Hearing impairment	63976	PRDM16	ORPHA:154
HP:0000365	Hearing impairment	63976	PRDM16	ORPHA:1606
HP:0000365	Hearing impairment	7273	TTN	ORPHA:154
HP:0000365	Hearing impairment	10587	TXNRD2	ORPHA:154
HP:0000365	Hearing impairment	9531	BAG3	ORPHA:154
HP:0000365	Hearing impairment	5350	PLN	ORPHA:154
HP:0000365	Hearing impairment	91624	NEXN	ORPHA:154
HP:0000365	Hearing impairment	79717	PPCS	ORPHA:154
HP:0000365	Hearing impairment	5664	PSEN2	ORPHA:154
HP:0000365	Hearing impairment	4624	MYH6	ORPHA:154
HP:0000365	Hearing impairment	9529	BAG5	ORPHA:154
HP:0000365	Hearing impairment	4607	MYBPC3	ORPHA:154
HP:0000365	Hearing impairment	282996	RBM20	ORPHA:154
HP:0000365	Hearing impairment	7137	TNNI3	ORPHA:154
HP:0000365	Hearing impairment	11155	LDB3	ORPHA:154
HP:0000365	Hearing impairment	2274	FHL2	ORPHA:154
HP:0000365	Hearing impairment	6901	TAFAZZIN	ORPHA:154
HP:0000365	Hearing impairment	22845	DOLK	ORPHA:154
HP:0000365	Hearing impairment	5894	RAF1	ORPHA:154
HP:0000365	Hearing impairment	5894	RAF1	ORPHA:500
HP:0000365	Hearing impairment	5894	RAF1	ORPHA:648
HP:0000365	Hearing impairment	1756	DMD	ORPHA:154
HP:0000365	Hearing impairment	57798	GATAD1	ORPHA:154
HP:0000365	Hearing impairment	7134	TNNC1	ORPHA:154
HP:0000365	Hearing impairment	84665	MYPN	ORPHA:154
HP:0000365	Hearing impairment	1674	DES	ORPHA:154
HP:0000365	Hearing impairment	6444	SGCD	ORPHA:154
HP:0000365	Hearing impairment	2218	FKTN	ORPHA:154
HP:0000365	Hearing impairment	8557	TCAP	ORPHA:154
HP:0000365	Hearing impairment	51399	TRAPPC4	OMIM:618741
HP:0000365	Hearing impairment	23019	CNOT1	OMIM:618500
HP:0000365	Hearing impairment	1024	CDK8	OMIM:618748
HP:0000365	Hearing impairment	5238	PGM3	ORPHA:443811
HP:0000365	Hearing impairment	5238	PGM3	OMIM:615816
HP:0000365	Hearing impairment	5165	PDK3	OMIM:300905
HP:0000365	Hearing impairment	5165	PDK3	ORPHA:352675
HP:0000365	Hearing impairment	51099	ABHD5	OMIM:275630
HP:0000365	Hearing impairment	51099	ABHD5	ORPHA:98907
HP:0000365	Hearing impairment	5979	RET	ORPHA:388
HP:0000365	Hearing impairment	5979	RET	ORPHA:99803
HP:0000365	Hearing impairment	2668	GDNF	ORPHA:388
HP:0000365	Hearing impairment	6608	SMO	ORPHA:388
HP:0000365	Hearing impairment	1889	ECE1	ORPHA:388
HP:0000365	Hearing impairment	223117	SEMA3D	ORPHA:388
HP:0000365	Hearing impairment	538	ATP7A	ORPHA:388
HP:0000365	Hearing impairment	10512	SEMA3C	ORPHA:388
HP:0000365	Hearing impairment	2064	ERBB2	ORPHA:388
HP:0000365	Hearing impairment	2064	ERBB2	OMIM:619465
HP:0000365	Hearing impairment	4902	NRTN	ORPHA:388
HP:0000365	Hearing impairment	197131	UBR1	OMIM:243800
HP:0000365	Hearing impairment	197131	UBR1	ORPHA:2315
HP:0000365	Hearing impairment	23498	HAAO	OMIM:617660
HP:0000365	Hearing impairment	83959	SLC4A11	ORPHA:293603
HP:0000365	Hearing impairment	83959	SLC4A11	ORPHA:1490
HP:0000365	Hearing impairment	83959	SLC4A11	OMIM:217400
HP:0000365	Hearing impairment	9578	CDC42BPB	OMIM:619841
HP:0000365	Hearing impairment	396	ARHGDIA	OMIM:615244
HP:0000365	Hearing impairment	56616	DIABLO	OMIM:614152
HP:0000365	Hearing impairment	1841	DTYMK	OMIM:619847
HP:0000365	Hearing impairment	166378	AFG2A	OMIM:616577
HP:0000365	Hearing impairment	84197	POMK	OMIM:615249
HP:0000365	Hearing impairment	81846	SBF2	OMIM:604563
HP:0000365	Hearing impairment	81846	SBF2	ORPHA:99956
HP:0000365	Hearing impairment	9885	OSBPL2	OMIM:616340
HP:0000365	Hearing impairment	3190	HNRNPK	OMIM:616580
HP:0000365	Hearing impairment	3190	HNRNPK	ORPHA:453504
HP:0000365	Hearing impairment	3190	HNRNPK	ORPHA:352665
HP:0000365	Hearing impairment	317662	FAM149B1	OMIM:618763
HP:0000365	Hearing impairment	64834	ELOVL1	OMIM:618527
HP:0000365	Hearing impairment	79029	AFG2B	OMIM:619615
HP:0000365	Hearing impairment	85465	SELENOI	OMIM:618768
HP:0000365	Hearing impairment	5191	PEX7	OMIM:215100
HP:0000365	Hearing impairment	5191	PEX7	ORPHA:773
HP:0000365	Hearing impairment	5191	PEX7	OMIM:614879
HP:0000365	Hearing impairment	5191	PEX7	OMIM:266500
HP:0000365	Hearing impairment	4571	MT-TP	OMIM:545000
HP:0000365	Hearing impairment	4571	MT-TP	ORPHA:551
HP:0000365	Hearing impairment	4565	MT-TI	OMIM:545000
HP:0000365	Hearing impairment	1301	COL11A1	OMIM:618533
HP:0000365	Hearing impairment	1301	COL11A1	ORPHA:90654
HP:0000365	Hearing impairment	1301	COL11A1	ORPHA:440354
HP:0000365	Hearing impairment	1301	COL11A1	ORPHA:560
HP:0000365	Hearing impairment	1301	COL11A1	OMIM:154780
HP:0000365	Hearing impairment	1301	COL11A1	OMIM:604841
HP:0000365	Hearing impairment	1301	COL11A1	ORPHA:250984
HP:0000365	Hearing impairment	23327	NEDD4L	OMIM:617201
HP:0000365	Hearing impairment	1428	CRYM	OMIM:616357
HP:0000365	Hearing impairment	28514	DLL1	ORPHA:93926
HP:0000365	Hearing impairment	28514	DLL1	ORPHA:93924
HP:0000365	Hearing impairment	28514	DLL1	ORPHA:93925
HP:0000365	Hearing impairment	28514	DLL1	ORPHA:220386
HP:0000365	Hearing impairment	2253	FGF8	ORPHA:93926
HP:0000365	Hearing impairment	2253	FGF8	ORPHA:93924
HP:0000365	Hearing impairment	2253	FGF8	ORPHA:93925
HP:0000365	Hearing impairment	2253	FGF8	ORPHA:220386
HP:0000365	Hearing impairment	2253	FGF8	ORPHA:478
HP:0000365	Hearing impairment	2253	FGF8	OMIM:612702
HP:0000365	Hearing impairment	6496	SIX3	ORPHA:93926
HP:0000365	Hearing impairment	6496	SIX3	ORPHA:93924
HP:0000365	Hearing impairment	6496	SIX3	ORPHA:93925
HP:0000365	Hearing impairment	6496	SIX3	ORPHA:220386
HP:0000365	Hearing impairment	7050	TGIF1	ORPHA:93926
HP:0000365	Hearing impairment	7050	TGIF1	ORPHA:93924
HP:0000365	Hearing impairment	7050	TGIF1	ORPHA:93925
HP:0000365	Hearing impairment	7050	TGIF1	ORPHA:220386
HP:0000365	Hearing impairment	4838	NODAL	ORPHA:93926
HP:0000365	Hearing impairment	4838	NODAL	ORPHA:93924
HP:0000365	Hearing impairment	4838	NODAL	ORPHA:93925
HP:0000365	Hearing impairment	4838	NODAL	ORPHA:220386
HP:0000365	Hearing impairment	6469	SHH	ORPHA:93926
HP:0000365	Hearing impairment	6469	SHH	ORPHA:93924
HP:0000365	Hearing impairment	6469	SHH	ORPHA:93925
HP:0000365	Hearing impairment	6469	SHH	ORPHA:220386
HP:0000365	Hearing impairment	7546	ZIC2	ORPHA:93926
HP:0000365	Hearing impairment	7546	ZIC2	ORPHA:93924
HP:0000365	Hearing impairment	7546	ZIC2	ORPHA:93925
HP:0000365	Hearing impairment	7546	ZIC2	ORPHA:220386
HP:0000365	Hearing impairment	6491	STIL	ORPHA:93926
HP:0000365	Hearing impairment	6491	STIL	ORPHA:93924
HP:0000365	Hearing impairment	6491	STIL	ORPHA:93925
HP:0000365	Hearing impairment	6491	STIL	ORPHA:220386
HP:0000365	Hearing impairment	2619	GAS1	ORPHA:93926
HP:0000365	Hearing impairment	2619	GAS1	ORPHA:93924
HP:0000365	Hearing impairment	2619	GAS1	ORPHA:93925
HP:0000365	Hearing impairment	2619	GAS1	ORPHA:220386
HP:0000365	Hearing impairment	84976	DISP1	ORPHA:93926
HP:0000365	Hearing impairment	84976	DISP1	ORPHA:93924
HP:0000365	Hearing impairment	84976	DISP1	ORPHA:93925
HP:0000365	Hearing impairment	84976	DISP1	ORPHA:220386
HP:0000365	Hearing impairment	2736	GLI2	ORPHA:93926
HP:0000365	Hearing impairment	2736	GLI2	ORPHA:93924
HP:0000365	Hearing impairment	2736	GLI2	ORPHA:93925
HP:0000365	Hearing impairment	2736	GLI2	ORPHA:220386
HP:0000365	Hearing impairment	8928	FOXH1	ORPHA:93926
HP:0000365	Hearing impairment	8928	FOXH1	ORPHA:93924
HP:0000365	Hearing impairment	8928	FOXH1	ORPHA:93925
HP:0000365	Hearing impairment	8928	FOXH1	ORPHA:220386
HP:0000365	Hearing impairment	5727	PTCH1	ORPHA:93926
HP:0000365	Hearing impairment	5727	PTCH1	ORPHA:93924
HP:0000365	Hearing impairment	5727	PTCH1	ORPHA:93925
HP:0000365	Hearing impairment	5727	PTCH1	ORPHA:220386
HP:0000365	Hearing impairment	50937	CDON	ORPHA:93926
HP:0000365	Hearing impairment	50937	CDON	ORPHA:93924
HP:0000365	Hearing impairment	50937	CDON	ORPHA:93925
HP:0000365	Hearing impairment	50937	CDON	ORPHA:220386
HP:0000365	Hearing impairment	23007	PLCH1	ORPHA:93925
HP:0000365	Hearing impairment	4247	MGAT2	OMIM:212066
HP:0000365	Hearing impairment	5357	PLS1	OMIM:618787
HP:0000365	Hearing impairment	5590	PRKCZ	ORPHA:1606
HP:0000365	Hearing impairment	2563	GABRD	ORPHA:1606
HP:0000365	Hearing impairment	8510	MMP23B	ORPHA:1606
HP:0000365	Hearing impairment	7798	LUZP1	ORPHA:1606
HP:0000365	Hearing impairment	6497	SKI	ORPHA:1606
HP:0000365	Hearing impairment	10630	PDPN	ORPHA:1606
HP:0000365	Hearing impairment	3339	HSPG2	ORPHA:1606
HP:0000365	Hearing impairment	10277	UBE4B	ORPHA:1606
HP:0000365	Hearing impairment	8514	KCNAB2	ORPHA:1606
HP:0000365	Hearing impairment	54897	CASZ1	ORPHA:1606
HP:0000365	Hearing impairment	117531	TMC1	OMIM:606705
HP:0000365	Hearing impairment	117531	TMC1	OMIM:600974
HP:0000365	Hearing impairment	3766	KCNJ10	ORPHA:199343
HP:0000365	Hearing impairment	3766	KCNJ10	OMIM:600791
HP:0000365	Hearing impairment	3766	KCNJ10	OMIM:612780
HP:0000365	Hearing impairment	3766	KCNJ10	ORPHA:705
HP:0000365	Hearing impairment	124590	USH1G	OMIM:606943
HP:0000365	Hearing impairment	124590	USH1G	ORPHA:231169
HP:0000365	Hearing impairment	3773	KCNJ16	OMIM:619406
HP:0000365	Hearing impairment	5981	RFC1	ORPHA:504476
HP:0000365	Hearing impairment	1758	DMP1	ORPHA:289176
HP:0000365	Hearing impairment	1758	DMP1	OMIM:241520
HP:0000365	Hearing impairment	125988	MICOS13	OMIM:618329
HP:0000365	Hearing impairment	84131	CEP78	OMIM:617236
HP:0000365	Hearing impairment	84131	CEP78	ORPHA:231183
HP:0000365	Hearing impairment	25836	NIPBL	OMIM:122470
HP:0000365	Hearing impairment	25836	NIPBL	ORPHA:199
HP:0000365	Hearing impairment	25970	SH2B1	ORPHA:261197
HP:0000365	Hearing impairment	55151	TMEM38B	OMIM:615066
HP:0000365	Hearing impairment	27429	HTRA2	OMIM:617248
HP:0000365	Hearing impairment	4001	LMNB1	ORPHA:99027
HP:0000365	Hearing impairment	389827	MYMK	OMIM:254940
HP:0000365	Hearing impairment	64132	XYLT2	OMIM:605822
HP:0000365	Hearing impairment	4549	MT-RNR1	ORPHA:551
HP:0000365	Hearing impairment	4564	MT-TH	ORPHA:551
HP:0000365	Hearing impairment	4564	MT-TH	ORPHA:550
HP:0000365	Hearing impairment	9361	LONP1	OMIM:600373
HP:0000365	Hearing impairment	9361	LONP1	ORPHA:1458
HP:0000365	Hearing impairment	4538	MT-ND4	ORPHA:550
HP:0000365	Hearing impairment	4538	MT-ND4	ORPHA:255210
HP:0000365	Hearing impairment	92840	REEP6	ORPHA:791
HP:0000365	Hearing impairment	6094	ROM1	ORPHA:791
HP:0000365	Hearing impairment	6017	RLBP1	ORPHA:791
HP:0000365	Hearing impairment	7401	CLRN1	ORPHA:791
HP:0000365	Hearing impairment	7401	CLRN1	OMIM:276902
HP:0000365	Hearing impairment	7401	CLRN1	ORPHA:231183
HP:0000365	Hearing impairment	24	ABCA4	ORPHA:791
HP:0000365	Hearing impairment	130557	ZNF513	ORPHA:791
HP:0000365	Hearing impairment	92211	CDHR1	ORPHA:791
HP:0000365	Hearing impairment	23568	ARL2BP	ORPHA:791
HP:0000365	Hearing impairment	54806	AHI1	ORPHA:791
HP:0000365	Hearing impairment	6101	RP1	ORPHA:791
HP:0000365	Hearing impairment	3419	IDH3A	ORPHA:791
HP:0000365	Hearing impairment	4751	NEK2	ORPHA:791
HP:0000365	Hearing impairment	346007	EYS	ORPHA:791
HP:0000365	Hearing impairment	8100	IFT88	ORPHA:791
HP:0000365	Hearing impairment	23020	SNRNP200	ORPHA:791
HP:0000365	Hearing impairment	762	CA4	ORPHA:791
HP:0000365	Hearing impairment	196	AHR	ORPHA:791
HP:0000365	Hearing impairment	5148	PDE6G	ORPHA:791
HP:0000365	Hearing impairment	26121	PRPF31	ORPHA:791
HP:0000365	Hearing impairment	4117	MAK	ORPHA:791
HP:0000365	Hearing impairment	25794	FSCN2	ORPHA:791
HP:0000365	Hearing impairment	375298	CERKL	ORPHA:791
HP:0000365	Hearing impairment	3420	IDH3B	ORPHA:791
HP:0000365	Hearing impairment	57670	KIAA1549	ORPHA:791
HP:0000365	Hearing impairment	7275	TUB	ORPHA:791
HP:0000365	Hearing impairment	24148	PRPF6	ORPHA:791
HP:0000365	Hearing impairment	10461	MERTK	ORPHA:791
HP:0000365	Hearing impairment	57709	SLC7A14	ORPHA:791
HP:0000365	Hearing impairment	768206	PRCD	ORPHA:791
HP:0000365	Hearing impairment	7399	USH2A	ORPHA:791
HP:0000365	Hearing impairment	7399	USH2A	ORPHA:231178
HP:0000365	Hearing impairment	23370	ARHGEF18	ORPHA:791
HP:0000365	Hearing impairment	5949	RBP3	ORPHA:791
HP:0000365	Hearing impairment	6010	RHO	ORPHA:791
HP:0000365	Hearing impairment	6100	RP9	ORPHA:791
HP:0000365	Hearing impairment	10002	NR2E3	ORPHA:791
HP:0000365	Hearing impairment	84140	FAM161A	ORPHA:791
HP:0000365	Hearing impairment	55624	POMGNT1	ORPHA:791
HP:0000365	Hearing impairment	403	ARL3	ORPHA:791
HP:0000365	Hearing impairment	5145	PDE6A	ORPHA:791
HP:0000365	Hearing impairment	10210	TOPORS	ORPHA:791
HP:0000365	Hearing impairment	8842	PROM1	ORPHA:791
HP:0000365	Hearing impairment	9128	PRPF4	ORPHA:791
HP:0000365	Hearing impairment	50939	IMPG2	ORPHA:791
HP:0000365	Hearing impairment	2979	GUCA1B	ORPHA:791
HP:0000365	Hearing impairment	1259	CNGA1	ORPHA:791
HP:0000365	Hearing impairment	1258	CNGB1	ORPHA:791
HP:0000365	Hearing impairment	60509	AGBL5	ORPHA:791
HP:0000365	Hearing impairment	5961	PRPH2	ORPHA:791
HP:0000365	Hearing impairment	388939	PCARE	ORPHA:791
HP:0000365	Hearing impairment	7439	BEST1	ORPHA:791
HP:0000365	Hearing impairment	9785	DHX38	ORPHA:791
HP:0000365	Hearing impairment	5995	RGR	ORPHA:791
HP:0000365	Hearing impairment	9129	PRPF3	ORPHA:791
HP:0000365	Hearing impairment	55975	KLHL7	ORPHA:791
HP:0000365	Hearing impairment	3617	IMPG1	ORPHA:791
HP:0000365	Hearing impairment	94137	RP1L1	ORPHA:791
HP:0000365	Hearing impairment	5158	PDE6B	ORPHA:791
HP:0000365	Hearing impairment	6102	RP2	ORPHA:791
HP:0000365	Hearing impairment	55857	KIZ	ORPHA:791
HP:0000365	Hearing impairment	64218	SEMA4A	ORPHA:791
HP:0000365	Hearing impairment	4901	NRL	ORPHA:791
HP:0000365	Hearing impairment	10594	PRPF8	ORPHA:791
HP:0000365	Hearing impairment	6295	SAG	ORPHA:791
HP:0000365	Hearing impairment	79947	DHDDS	ORPHA:791
HP:0000365	Hearing impairment	79947	DHDDS	OMIM:613861
HP:0000365	Hearing impairment	54517	PUS7	OMIM:618342
HP:0000365	Hearing impairment	5551	PRF1	ORPHA:540
HP:0000365	Hearing impairment	8676	STX11	ORPHA:540
HP:0000365	Hearing impairment	201294	UNC13D	ORPHA:540
HP:0000365	Hearing impairment	57104	PNPLA2	ORPHA:565612
HP:0000365	Hearing impairment	57104	PNPLA2	ORPHA:98908
HP:0000365	Hearing impairment	57104	PNPLA2	OMIM:610717
HP:0000365	Hearing impairment	55182	RNF220	OMIM:619688
HP:0000365	Hearing impairment	79158	GNPTAB	ORPHA:576
HP:0000365	Hearing impairment	7007	TECTA	OMIM:603629
HP:0000365	Hearing impairment	7007	TECTA	OMIM:601543
HP:0000365	Hearing impairment	537	ATP6AP1	OMIM:300972
HP:0000365	Hearing impairment	7922	SLC39A7	OMIM:619693
HP:0000365	Hearing impairment	3376	IARS1	ORPHA:541423
HP:0000365	Hearing impairment	3376	IARS1	OMIM:617093
HP:0000365	Hearing impairment	10083	USH1C	OMIM:276900
HP:0000365	Hearing impairment	10083	USH1C	OMIM:602092
HP:0000365	Hearing impairment	10083	USH1C	ORPHA:231169
HP:0000365	Hearing impairment	11342	RNF13	OMIM:618379
HP:0000365	Hearing impairment	11342	RNF13	ORPHA:544503
HP:0000365	Hearing impairment	9294	S1PR2	OMIM:610419
HP:0000365	Hearing impairment	5137	PDE1C	OMIM:618140
HP:0000365	Hearing impairment	57187	THOC2	OMIM:300957
HP:0000365	Hearing impairment	84196	USP48	OMIM:620227
HP:0000365	Hearing impairment	493856	CISD2	OMIM:604928
HP:0000365	Hearing impairment	493856	CISD2	ORPHA:3463
HP:0000365	Hearing impairment	9373	PLAA	ORPHA:521426
HP:0000365	Hearing impairment	100127206	MINAR2	OMIM:620238
HP:0000365	Hearing impairment	91662	NLRP12	OMIM:611762
HP:0000365	Hearing impairment	55717	WDR11	OMIM:620237
HP:0000365	Hearing impairment	55717	WDR11	ORPHA:478
HP:0000365	Hearing impairment	93587	TRMT10A	ORPHA:391408
HP:0000365	Hearing impairment	7169	TPM2	OMIM:108120
HP:0000365	Hearing impairment	2299	FOXI1	OMIM:600791
HP:0000365	Hearing impairment	2299	FOXI1	ORPHA:705
HP:0000365	Hearing impairment	5172	SLC26A4	OMIM:600791
HP:0000365	Hearing impairment	5172	SLC26A4	ORPHA:705
HP:0000365	Hearing impairment	5264	PHYH	ORPHA:773
HP:0000365	Hearing impairment	5264	PHYH	OMIM:266500
HP:0000365	Hearing impairment	5295	PIK3R1	ORPHA:3163
HP:0000365	Hearing impairment	5295	PIK3R1	OMIM:269880
HP:0000365	Hearing impairment	81624	DIAPH3	OMIM:609129
HP:0000365	Hearing impairment	2629	GBA1	ORPHA:2072
HP:0000365	Hearing impairment	54936	ADPRS	OMIM:618170
HP:0000365	Hearing impairment	4860	PNP	ORPHA:760
HP:0000365	Hearing impairment	375056	MIA3	OMIM:619269
HP:0000365	Hearing impairment	8022	LHX3	ORPHA:231720
HP:0000365	Hearing impairment	8022	LHX3	ORPHA:226307
HP:0000365	Hearing impairment	8022	LHX3	OMIM:221750
HP:0000365	Hearing impairment	6658	SOX3	ORPHA:3157
HP:0000365	Hearing impairment	9915	ARNT2	ORPHA:3157
HP:0000365	Hearing impairment	8820	HESX1	ORPHA:3157
HP:0000365	Hearing impairment	8820	HESX1	ORPHA:226307
HP:0000365	Hearing impairment	8820	HESX1	ORPHA:478
HP:0000365	Hearing impairment	5015	OTX2	ORPHA:3157
HP:0000365	Hearing impairment	7355	SLC35A2	ORPHA:356961
HP:0000365	Hearing impairment	283310	OTOGL	OMIM:614944
HP:0000365	Hearing impairment	340990	OTOG	OMIM:614945
HP:0000365	Hearing impairment	79581	SLC52A2	OMIM:614707
HP:0000365	Hearing impairment	8200	GDF5	ORPHA:3250
HP:0000365	Hearing impairment	146183	OTOA	OMIM:607039
HP:0000365	Hearing impairment	613	BCR	ORPHA:261330
HP:0000365	Hearing impairment	1399	CRKL	ORPHA:261330
HP:0000365	Hearing impairment	5594	MAPK1	ORPHA:261330
HP:0000365	Hearing impairment	63916	ELMO2	ORPHA:3019
HP:0000365	Hearing impairment	375611	SLC26A5	OMIM:613865
HP:0000365	Hearing impairment	429	ASCL1	ORPHA:99803
HP:0000365	Hearing impairment	8929	PHOX2B	ORPHA:99803
HP:0000365	Hearing impairment	525	ATP6V1B1	OMIM:267300
HP:0000365	Hearing impairment	645104	CLRN2	OMIM:619174
HP:0000365	Hearing impairment	2483	FRG1	OMIM:158900
HP:0000365	Hearing impairment	2483	FRG1	ORPHA:269
HP:0000365	Hearing impairment	29967	LRP12	OMIM:164310
HP:0000365	Hearing impairment	546	ATRX	ORPHA:847
HP:0000365	Hearing impairment	546	ATRX	OMIM:309580
HP:0000365	Hearing impairment	546	ATRX	OMIM:301040
HP:0000365	Hearing impairment	54675	CRLS1	OMIM:620167
HP:0000365	Hearing impairment	57531	HACE1	ORPHA:464282
HP:0000365	Hearing impairment	57531	HACE1	OMIM:616756
HP:0000365	Hearing impairment	9839	ZEB2	ORPHA:261552
HP:0000365	Hearing impairment	9839	ZEB2	ORPHA:261537
HP:0000365	Hearing impairment	7156	TOP3A	OMIM:618098
HP:0000365	Hearing impairment	6999	TDO2	OMIM:600627
HP:0000365	Hearing impairment	1954	MEGF8	OMIM:614976
HP:0000365	Hearing impairment	1729	DIAPH1	OMIM:124900
HP:0000365	Hearing impairment	84300	UQCC2	OMIM:615824
HP:0000365	Hearing impairment	3782	KCNN3	ORPHA:3473
HP:0000365	Hearing impairment	53834	FGFRL1	OMIM:194190
HP:0000365	Hearing impairment	84947	SERAC1	OMIM:614739
HP:0000365	Hearing impairment	54496	PRMT7	ORPHA:464288
HP:0000365	Hearing impairment	9653	HS2ST1	OMIM:619194
HP:0000365	Hearing impairment	5626	PROP1	ORPHA:226307
HP:0000365	Hearing impairment	89884	LHX4	ORPHA:226307
HP:0000365	Hearing impairment	5449	POU1F1	ORPHA:226307
HP:0000365	Hearing impairment	10908	PNPLA6	ORPHA:2377
HP:0000365	Hearing impairment	3211	HOXB1	OMIM:614744
HP:0000365	Hearing impairment	2122	MECOM	ORPHA:71289
HP:0000365	Hearing impairment	2122	MECOM	OMIM:616738
HP:0000365	Hearing impairment	3207	HOXA11	ORPHA:71289
HP:0000365	Hearing impairment	3207	HOXA11	OMIM:605432
HP:0000365	Hearing impairment	2624	GATA2	ORPHA:3226
HP:0000365	Hearing impairment	90665	TBL1Y	OMIM:400047
HP:0000365	Hearing impairment	2103	ESRRB	OMIM:608565
HP:0000365	Hearing impairment	427	ASAH1	ORPHA:2590
HP:0000365	Hearing impairment	286676	ILDR1	OMIM:609646
HP:0000365	Hearing impairment	9455	HOMER2	OMIM:616707
HP:0000365	Hearing impairment	4233	MET	OMIM:616705
HP:0000365	Hearing impairment	4556	MT-TE	ORPHA:2596
HP:0000365	Hearing impairment	4556	MT-TE	ORPHA:225
HP:0000365	Hearing impairment	147372	CCBE1	OMIM:235510
HP:0000365	Hearing impairment	84188	FAR1	ORPHA:447753
HP:0000365	Hearing impairment	5832	ALDH18A1	ORPHA:447753
HP:0000365	Hearing impairment	355	FAS	ORPHA:3437
HP:0000365	Hearing impairment	57165	GJC2	OMIM:613206
HP:0000365	Hearing impairment	57165	GJC2	ORPHA:320401
HP:0000365	Hearing impairment	57724	EPG5	ORPHA:1493
HP:0000365	Hearing impairment	57724	EPG5	OMIM:242840
HP:0000365	Hearing impairment	3371	TNC	OMIM:615629
HP:0000365	Hearing impairment	152137	CCDC50	OMIM:607453
HP:0000365	Hearing impairment	1287	COL4A5	ORPHA:1018
HP:0000365	Hearing impairment	1287	COL4A5	OMIM:301050
HP:0000365	Hearing impairment	91949	COG7	OMIM:608779
HP:0000365	Hearing impairment	124997	WDR81	OMIM:610185
HP:0000365	Hearing impairment	132	ADK	OMIM:614300
HP:0000365	Hearing impairment	79848	CSPP1	OMIM:615636
HP:0000365	Hearing impairment	8943	AP3D1	ORPHA:1000
HP:0000365	Hearing impairment	8763	CD164	OMIM:616969
HP:0000365	Hearing impairment	1776	DNASE1L3	ORPHA:36412
HP:0000365	Hearing impairment	4010	LMX1B	OMIM:161200
HP:0000365	Hearing impairment	7317	UBA1	OMIM:301054
HP:0000365	Hearing impairment	54931	TRMT10C	OMIM:616974
HP:0000365	Hearing impairment	2782	GNB1	OMIM:616973
HP:0000365	Hearing impairment	4893	NRAS	OMIM:613224
HP:0000365	Hearing impairment	4893	NRAS	ORPHA:648
HP:0000365	Hearing impairment	4363	ABCC1	OMIM:618915
HP:0000365	Hearing impairment	169792	GLIS3	OMIM:610199
HP:0000365	Hearing impairment	50	ACO2	OMIM:614559
HP:0000365	Hearing impairment	27235	COQ2	OMIM:607426
HP:0000365	Hearing impairment	10560	SLC19A2	OMIM:249270
HP:0000365	Hearing impairment	10560	SLC19A2	ORPHA:49827
HP:0000365	Hearing impairment	60	ACTB	ORPHA:79107
HP:0000365	Hearing impairment	60	ACTB	OMIM:243310
HP:0000365	Hearing impairment	60	ACTB	OMIM:607371
HP:0000365	Hearing impairment	8985	PLOD3	OMIM:612394
HP:0000365	Hearing impairment	4854	NOTCH3	ORPHA:2789
HP:0000365	Hearing impairment	80736	SLC44A4	OMIM:617606
HP:0000365	Hearing impairment	23312	DMXL2	OMIM:617605
HP:0000365	Hearing impairment	23312	DMXL2	OMIM:618663
HP:0000365	Hearing impairment	23476	BRD4	ORPHA:199
HP:0000365	Hearing impairment	8243	SMC1A	ORPHA:199
HP:0000365	Hearing impairment	8243	SMC1A	ORPHA:220386
HP:0000365	Hearing impairment	5885	RAD21	ORPHA:199
HP:0000365	Hearing impairment	157680	VPS13B	ORPHA:193
HP:0000365	Hearing impairment	1213	CLTC	OMIM:617854
HP:0000365	Hearing impairment	51520	LARS1	OMIM:615438
HP:0000365	Hearing impairment	1890	TYMP	OMIM:603041
HP:0000365	Hearing impairment	1890	TYMP	ORPHA:298
HP:0000365	Hearing impairment	60528	ELAC2	OMIM:615440
HP:0000365	Hearing impairment	28957	MRPS28	OMIM:618958
HP:0000365	Hearing impairment	60482	SLC5A7	ORPHA:98914
HP:0000365	Hearing impairment	4649	MYO9A	ORPHA:98914
HP:0000365	Hearing impairment	1305	COL13A1	ORPHA:98914
HP:0000365	Hearing impairment	1103	CHAT	ORPHA:98914
HP:0000365	Hearing impairment	6576	SLC25A1	ORPHA:98914
HP:0000365	Hearing impairment	6843	VAMP1	ORPHA:98914
HP:0000365	Hearing impairment	375790	AGRN	ORPHA:98914
HP:0000365	Hearing impairment	6572	SLC18A3	ORPHA:98914
HP:0000365	Hearing impairment	6616	SNAP25	ORPHA:98914
HP:0000365	Hearing impairment	7518	XRCC4	OMIM:616541
HP:0000365	Hearing impairment	8192	CLPP	OMIM:614129
HP:0000365	Hearing impairment	5879	RAC1	ORPHA:500159
HP:0000365	Hearing impairment	5879	RAC1	OMIM:617751
HP:0000365	Hearing impairment	23250	ATP11A	OMIM:619810
HP:0000365	Hearing impairment	8777	MPDZ	OMIM:615219
HP:0000365	Hearing impairment	55553	SOX6	OMIM:618971
HP:0000365	Hearing impairment	64221	ROBO3	ORPHA:2744
HP:0000365	Hearing impairment	1630	DCC	ORPHA:2744
HP:0000365	Hearing impairment	1630	DCC	ORPHA:478
HP:0000365	Hearing impairment	16	AARS1	OMIM:613287
HP:0000365	Hearing impairment	1297	COL9A1	OMIM:614134
HP:0000365	Hearing impairment	1297	COL9A1	ORPHA:250984
HP:0000365	Hearing impairment	8449	DHX16	OMIM:618733
HP:0000365	Hearing impairment	4014	LORICRIN	ORPHA:79395
HP:0000365	Hearing impairment	9381	OTOF	OMIM:601071
HP:0000365	Hearing impairment	64699	TMPRSS3	OMIM:601072
HP:0000365	Hearing impairment	51103	NDUFAF1	ORPHA:2609
HP:0000365	Hearing impairment	51300	TIMMDC1	ORPHA:2609
HP:0000365	Hearing impairment	51300	TIMMDC1	OMIM:618251
HP:0000365	Hearing impairment	4716	NDUFB10	ORPHA:2609
HP:0000365	Hearing impairment	284184	NDUFAF8	ORPHA:2609
HP:0000365	Hearing impairment	55863	TMEM126B	ORPHA:2609
HP:0000365	Hearing impairment	4537	MT-ND3	ORPHA:2609
HP:0000365	Hearing impairment	4537	MT-ND3	ORPHA:255210
HP:0000365	Hearing impairment	4726	NDUFS6	ORPHA:2609
HP:0000365	Hearing impairment	126328	NDUFA11	ORPHA:2609
HP:0000365	Hearing impairment	4709	NDUFB3	ORPHA:2609
HP:0000365	Hearing impairment	80224	NUBPL	ORPHA:2609
HP:0000365	Hearing impairment	4700	NDUFA6	ORPHA:2609
HP:0000365	Hearing impairment	4536	MT-ND2	ORPHA:2609
HP:0000365	Hearing impairment	4536	MT-ND2	ORPHA:255210
HP:0000365	Hearing impairment	4715	NDUFB9	ORPHA:2609
HP:0000365	Hearing impairment	29925	GMPPB	OMIM:615350
HP:0000365	Hearing impairment	1947	EFNB1	ORPHA:1520
HP:0000365	Hearing impairment	22947	DUX4L1	ORPHA:269
HP:0000365	Hearing impairment	1789	DNMT3B	ORPHA:269
HP:0000365	Hearing impairment	100288687	DUX4	ORPHA:269
HP:0000365	Hearing impairment	267010	RNU12	OMIM:603116
HP:0000365	Hearing impairment	128486	FITM2	OMIM:618635
HP:0000365	Hearing impairment	3980	LIG3	ORPHA:298
HP:0000365	Hearing impairment	80153	EDC3	OMIM:616460
HP:0000365	Hearing impairment	1600	DAB1	ORPHA:363710
HP:0000365	Hearing impairment	55870	ASH1L	OMIM:617796
HP:0000365	Hearing impairment	1298	COL9A2	OMIM:614284
HP:0000365	Hearing impairment	1298	COL9A2	ORPHA:250984
HP:0000365	Hearing impairment	9692	PRORP	OMIM:619737
HP:0000365	Hearing impairment	2200	FBN1	ORPHA:2833
HP:0000365	Hearing impairment	23761	PISD	OMIM:618889
HP:0000365	Hearing impairment	83480	PUS3	ORPHA:488627
HP:0000365	Hearing impairment	22884	WDR37	OMIM:618652
HP:0000365	Hearing impairment	388551	CEACAM16	OMIM:618410
HP:0000365	Hearing impairment	388551	CEACAM16	OMIM:614614
HP:0000365	Hearing impairment	5424	POLD1	OMIM:615381
HP:0000365	Hearing impairment	26284	ERAL1	OMIM:617565
HP:0000365	Hearing impairment	55012	PPP2R3C	OMIM:618419
HP:0000365	Hearing impairment	93627	TBCK	ORPHA:488632
HP:0000365	Hearing impairment	595	CCND1	OMIM:193300
HP:0000365	Hearing impairment	7428	VHL	OMIM:193300
HP:0000365	Hearing impairment	8642	DCHS1	OMIM:601390
HP:0000365	Hearing impairment	23262	PPIP5K2	OMIM:618422
HP:0000365	Hearing impairment	1182	CLCN3	OMIM:619512
HP:0000365	Hearing impairment	85301	COL27A1	OMIM:615155
HP:0000365	Hearing impairment	8879	SGPL1	OMIM:617575
HP:0000365	Hearing impairment	9453	GGPS1	OMIM:619518
HP:0000365	Hearing impairment	59335	PRDM12	OMIM:616488
HP:0000365	Hearing impairment	9786	KIAA0586	OMIM:616490
HP:0000365	Hearing impairment	4849	CNOT3	OMIM:618672
HP:0000365	Hearing impairment	9158	FIBP	OMIM:617107
HP:0000365	Hearing impairment	9158	FIBP	ORPHA:500095
HP:0000365	Hearing impairment	7841	MOGS	ORPHA:79330
HP:0000365	Hearing impairment	7841	MOGS	OMIM:606056
HP:0000365	Hearing impairment	51651	PTRH2	OMIM:616263
HP:0000365	Hearing impairment	51651	PTRH2	ORPHA:456312
HP:0000365	Hearing impairment	85365	ALG2	OMIM:607906
HP:0000365	Hearing impairment	79977	GRHL2	OMIM:616029
HP:0000365	Hearing impairment	79977	GRHL2	OMIM:608641
HP:0000365	Hearing impairment	79087	ALG12	ORPHA:79324
HP:0000365	Hearing impairment	79087	ALG12	OMIM:607143
HP:0000365	Hearing impairment	10750	GRAP	OMIM:618456
HP:0000365	Hearing impairment	124976	SPNS2	OMIM:618457
HP:0000365	Hearing impairment	10371	SEMA3A	ORPHA:478
HP:0000365	Hearing impairment	79625	NDNF	ORPHA:478
HP:0000365	Hearing impairment	389549	FEZF1	ORPHA:478
HP:0000365	Hearing impairment	3730	ANOS1	ORPHA:478
HP:0000365	Hearing impairment	285025	CCDC141	ORPHA:478
HP:0000365	Hearing impairment	60675	PROK2	ORPHA:478
HP:0000365	Hearing impairment	6870	TACR3	ORPHA:478
HP:0000365	Hearing impairment	9394	HS6ST1	ORPHA:478
HP:0000365	Hearing impairment	8822	FGF17	ORPHA:478
HP:0000365	Hearing impairment	10456	HAX1	OMIM:610738
HP:0000365	Hearing impairment	53405	CLIC5	OMIM:616042
HP:0000365	Hearing impairment	54892	NCAPG2	OMIM:618460
HP:0000365	Hearing impairment	6548	SLC9A1	OMIM:616291
HP:0000365	Hearing impairment	29998	BICRA	OMIM:619325
HP:0000365	Hearing impairment	9342	SNAP29	ORPHA:66631
HP:0000365	Hearing impairment	9342	SNAP29	OMIM:609528
HP:0000365	Hearing impairment	162514	TRPV3	ORPHA:659
HP:0000365	Hearing impairment	64065	PERP	ORPHA:659
HP:0000365	Hearing impairment	977	CD151	OMIM:609057
HP:0000365	Hearing impairment	79068	FTO	OMIM:612938
HP:0000365	Hearing impairment	10059	DNM1L	ORPHA:98673
HP:0000365	Hearing impairment	124842	TMEM132E	OMIM:618481
HP:0000365	Hearing impairment	57551	TAOK1	OMIM:619575
HP:0000365	Hearing impairment	55814	BDP1	OMIM:618257
HP:0000365	Hearing impairment	8635	RNASET2	OMIM:612951
HP:0000365	Hearing impairment	9791	PTDSS1	OMIM:151050
HP:0000365	Hearing impairment	51095	TRNT1	OMIM:616084
HP:0000365	Hearing impairment	4629	MYH11	OMIM:619351
HP:0000365	Hearing impairment	60684	TRAPPC11	ORPHA:869
HP:0000365	Hearing impairment	8086	AAAS	ORPHA:869
HP:0000365	Hearing impairment	3198	HOXA1	OMIM:601536
HP:0000365	Hearing impairment	51715	RAB23	OMIM:201000
HP:0000365	Hearing impairment	23516	SLC39A14	OMIM:144755
HP:0000365	Hearing impairment	9759	HDAC4	OMIM:600430
HP:0000365	Hearing impairment	22800	RRAS2	ORPHA:648
HP:0000365	Hearing impairment	867	CBL	ORPHA:648
HP:0000365	Hearing impairment	8216	LZTR1	ORPHA:648
HP:0000365	Hearing impairment	6016	RIT1	ORPHA:648
HP:0000365	Hearing impairment	6237	RRAS	ORPHA:648
HP:0000365	Hearing impairment	200734	SPRED2	ORPHA:648
HP:0000365	Hearing impairment	6655	SOS2	ORPHA:648
HP:0000365	Hearing impairment	5922	RASA2	ORPHA:648
HP:0000365	Hearing impairment	23438	HARS2	OMIM:614926
HP:0000365	Hearing impairment	84233	TMEM126A	OMIM:612989
HP:0000365	Hearing impairment	8665	EIF3F	OMIM:618295
HP:0000365	Hearing impairment	27183	VPS4A	OMIM:619273
HP:0000365	Hearing impairment	84189	SLITRK6	OMIM:221200
HP:0000365	Hearing impairment	4570	MT-TN	OMIM:220110
HP:0000365	Hearing impairment	59341	TRPV4	OMIM:606071
HP:0000365	Hearing impairment	494513	PJVK	OMIM:610220
HP:0000365	Hearing impairment	95	ACY1	ORPHA:137754
HP:0000365	Hearing impairment	95	ACY1	OMIM:609924
HP:0000365	Hearing impairment	10992	SF3B2	OMIM:164210
HP:0000365	Hearing impairment	1299	COL9A3	OMIM:620022
HP:0000365	Hearing impairment	1299	COL9A3	ORPHA:250984
HP:0000365	Hearing impairment	162	AP1B1	OMIM:242150
HP:0000365	Hearing impairment	1352	COX10	OMIM:619046
HP:0000365	Hearing impairment	7080	NKX2-1	ORPHA:209905
HP:0000365	Hearing impairment	26090	ABHD12	OMIM:612674
HP:0000365	Hearing impairment	5978	REST	OMIM:612431
HP:0000365	Hearing impairment	1174	AP1S1	OMIM:609313
HP:0000365	Hearing impairment	4953	ODC1	OMIM:619075
HP:0000365	Hearing impairment	4953	ODC1	ORPHA:544488
HP:0000365	Hearing impairment	5251	PHEX	ORPHA:89936
HP:0000365	Hearing impairment	54084	TSPEAR	OMIM:614861
HP:0000365	Hearing impairment	7461	CLIP2	ORPHA:904
HP:0000365	Hearing impairment	84277	DNAJC30	ORPHA:904
HP:0000365	Hearing impairment	8468	FKBP6	ORPHA:904
HP:0000365	Hearing impairment	5982	RFC2	ORPHA:904
HP:0000365	Hearing impairment	2969	GTF2I	ORPHA:904
HP:0000365	Hearing impairment	3984	LIMK1	ORPHA:904
HP:0000365	Hearing impairment	9569	GTF2IRD1	ORPHA:904
HP:0000365	Hearing impairment	155382	VPS37D	ORPHA:904
HP:0000365	Hearing impairment	155368	METTL27	ORPHA:904
HP:0000365	Hearing impairment	114049	BUD23	ORPHA:904
HP:0000365	Hearing impairment	7458	EIF4H	ORPHA:904
HP:0000365	Hearing impairment	84163	GTF2IRD2	ORPHA:904
HP:0000365	Hearing impairment	9275	BCL7B	ORPHA:904
HP:0000365	Hearing impairment	26608	TBL2	ORPHA:904
HP:0000365	Hearing impairment	653361	NCF1	ORPHA:904
HP:0000365	Hearing impairment	135886	TMEM270	ORPHA:904
HP:0000365	Hearing impairment	51085	MLXIPL	ORPHA:904
HP:0000365	Hearing impairment	51085	MLXIPL	OMIM:194050
HP:0000365	Hearing impairment	9031	BAZ1B	ORPHA:904
HP:0000365	Hearing impairment	2006	ELN	ORPHA:904
HP:0000365	Hearing impairment	2006	ELN	OMIM:194050
HP:0000365	Hearing impairment	1493	CTLA4	ORPHA:900
HP:0000365	Hearing impairment	3115	HLA-DPB1	ORPHA:900
HP:0000365	Hearing impairment	5657	PRTN3	ORPHA:900
HP:0000365	Hearing impairment	3113	HLA-DPA1	ORPHA:900
HP:0000365	Hearing impairment	5159	PDGFRB	OMIM:601812
HP:0000365	Hearing impairment	5591	PRKDC	OMIM:615966
HP:0000365	Hearing impairment	10430	TMEM147	OMIM:620075
HP:0000365	Hearing impairment	9080	CLDN9	OMIM:619093
HP:0000365	Hearing impairment	9939	RBM8A	ORPHA:3320
HP:0000365	Hearing impairment	92154	MTSS2	OMIM:620086
HP:0000365	Hearing impairment	51004	COQ6	OMIM:614650
HP:0000365	Hearing impairment	2702	GJA5	OMIM:612474
HP:0000365	Hearing impairment	2703	GJA8	OMIM:612474
HP:0000365	Hearing impairment	170302	ARX	OMIM:300419
HP:0000365	Hearing impairment	84695	LOXL3	ORPHA:250984
HP:0000365	Hearing impairment	9420	CYP7B1	ORPHA:100986
HP:0000365	Hearing impairment	9420	CYP7B1	OMIM:270800
HP:0000365	Hearing impairment	8556	CDC14A	OMIM:608653
HP:0000365	Hearing impairment	6731	SRP72	OMIM:614675
HP:0000365	Hearing impairment	1750	DLX6	ORPHA:2440
HP:0000365	Hearing impairment	7979	SEM1	ORPHA:2440
HP:0000365	Hearing impairment	8945	BTRC	ORPHA:2440
HP:0000365	Hearing impairment	58513	EPS15L1	ORPHA:2440
HP:0000365	Hearing impairment	6468	FBXW4	ORPHA:2440
HP:0000365	Hearing impairment	7480	WNT10B	ORPHA:2440
HP:0000365	Hearing impairment	51116	MRPS2	OMIM:617950
HP:0000365	Hearing impairment	10265	IRX5	OMIM:611174
HP:0000365	Hearing impairment	405753	DUOXA2	ORPHA:95716
HP:0000365	Hearing impairment	6528	SLC5A5	ORPHA:95716
HP:0000365	Hearing impairment	7038	TG	ORPHA:95716
HP:0000365	Hearing impairment	7173	TPO	ORPHA:95716
HP:0000365	Hearing impairment	389434	IYD	ORPHA:95716
HP:0000365	Hearing impairment	50506	DUOX2	ORPHA:95716
HP:0000365	Hearing impairment	2058	EPRS1	OMIM:617951
HP:0000365	Hearing impairment	27315	PGAP2	OMIM:614207
HP:0000365	Hearing impairment	708	C1QBP	OMIM:617713
HP:0000365	Hearing impairment	128989	TANGO2	ORPHA:480864
HP:0000365	Hearing impairment	128989	TANGO2	OMIM:616878
HP:0000365	Hearing impairment	64423	INF2	OMIM:614455
HP:0000365	Hearing impairment	2584	GALK1	ORPHA:79237
HP:0000365	Hearing impairment	84059	ADGRV1	ORPHA:231178
HP:0000365	Hearing impairment	246213	SLC17A8	OMIM:605583
HP:0000365	Hearing impairment	182	JAG1	OMIM:617992
HP:0000365	Hearing impairment	5116	PCNT	ORPHA:2637
HP:0000365	Hearing impairment	63929	XPNPEP3	OMIM:613159
HP:0000365	Hearing impairment	57731	SPTBN4	OMIM:617519
HP:0000365	Hearing impairment	2582	GALE	OMIM:230350
HP:0000365	Hearing impairment	7840	ALMS1	ORPHA:64
HP:0000365	Hearing impairment	7840	ALMS1	OMIM:203800
HP:0000365	Hearing impairment	4694	NDUFA1	OMIM:301020
HP:0000365	Hearing impairment	1687	GSDME	OMIM:600994
HP:0000365	Hearing impairment	10205	MPZL2	OMIM:618145
HP:0000365	Hearing impairment	407053	MIR96	OMIM:613074
HP:0000365	Hearing impairment	10463	SLC30A9	OMIM:617595
HP:0000365	Hearing impairment	22901	ARSG	OMIM:618144
HP:0000365	Hearing impairment	2625	GATA3	ORPHA:2237
HP:0000365	Hearing impairment	4171	MCM2	OMIM:616968
HP:0000365	Hearing impairment	53904	MYO3A	OMIM:607101
HP:0000365	Hearing impairment	2671	GFER	ORPHA:330054
HP:0000365	Hearing impairment	79966	SCD5	OMIM:619086
HP:0000365	Hearing impairment	4646	MYO6	OMIM:606346
HP:0000365	Hearing impairment	163183	SYNE4	OMIM:615540
HP:0000365	Hearing impairment	23395	LARS2	OMIM:615300
HP:0000365	Hearing impairment	286262	TPRN	OMIM:613307
HP:0000365	Hearing impairment	4976	OPA1	OMIM:125250
HP:0000365	Hearing impairment	22953	P2RX2	OMIM:608224
HP:0000365	Hearing impairment	10755	GIPC1	ORPHA:98897
HP:0000365	Hearing impairment	100996717	NOTCH2NLC	ORPHA:98897
HP:0000365	Hearing impairment	56172	ANKH	OMIM:123000
HP:0000365	Hearing impairment	166929	SGMS2	OMIM:126550
HP:0000365	Hearing impairment	5456	POU3F4	OMIM:304400
HP:0000365	Hearing impairment	1302	COL11A2	OMIM:215150
HP:0000365	Hearing impairment	4125	MAN2B1	ORPHA:309282
HP:0000365	Hearing impairment	4125	MAN2B1	ORPHA:309288
HP:0000365	Hearing impairment	3199	HOXA2	OMIM:612290
HP:0000365	Hearing impairment	55755	CDK5RAP2	OMIM:604804
HP:0000365	Hearing impairment	5075	PAX1	OMIM:615560
HP:0000365	Hearing impairment	55033	FKBP14	OMIM:614557
HP:0000365	Hearing impairment	84173	ELMOD3	OMIM:615429
HP:0000365	Hearing impairment	55294	FBXW7	OMIM:620012
HP:0000365	Hearing impairment	56975	FAM20C	OMIM:259775
HP:0000365	Hearing impairment	6234	RPS28	OMIM:606164
HP:0000365	Hearing impairment	84265	POLR3GL	OMIM:619234
HP:0000365	Hearing impairment	5269	SERPINB6	OMIM:613453
HP:0000365	Hearing impairment	9570	GOSR2	OMIM:620166
HP:0000365	Hearing impairment	121340	SP7	OMIM:613849
HP:0000365	Hearing impairment	11190	CEP250	OMIM:618358
HP:0000365	Hearing impairment	4627	MYH9	OMIM:603622
HP:0000365	Hearing impairment	4009	LMX1A	OMIM:601412
HP:0000365	Hearing impairment	5442	POLRMT	OMIM:619743
HP:0000365	Hearing impairment	7407	VARS1	OMIM:617802
HP:0000365	Hearing impairment	26012	NSMF	ORPHA:432
HP:0000365	Hearing impairment	2796	GNRH1	ORPHA:432
HP:0000365	Hearing impairment	2798	GNRHR	ORPHA:432
HP:0000365	Hearing impairment	84634	KISS1R	ORPHA:432
HP:0000365	Hearing impairment	6866	TAC3	ORPHA:432
HP:0000365	Hearing impairment	3814	KISS1	ORPHA:432
HP:0000365	Hearing impairment	51241	COX16	OMIM:619355
HP:0000365	Hearing impairment	80000	GREB1L	OMIM:619274
HP:0000365	Hearing impairment	51081	MRPS7	OMIM:617872
HP:0000365	Hearing impairment	220074	LRTOMT	OMIM:611451
HP:0000365	Hearing impairment	4919	ROR1	OMIM:617654
HP:0000365	Hearing impairment	5959	RDH5	ORPHA:52427
HP:0000365	Hearing impairment	54845	ESRP1	OMIM:618013
HP:0000365	Hearing impairment	8942	KYNU	ORPHA:79155
HP:0000365	Hearing impairment	6813	STXBP2	OMIM:613101
HP:0000365	Hearing impairment	10269	ZMPSTE24	ORPHA:740
HP:0000365	Hearing impairment	257	ALX3	ORPHA:391474
HP:0000365	Hearing impairment	1678	TIMM8A	OMIM:304700
HP:0000365	Hearing impairment	1678	TIMM8A	ORPHA:52368
HP:0000365	Hearing impairment	1690	COCH	OMIM:601369
HP:0000365	Hearing impairment	1513	CTSK	ORPHA:763
HP:0000365	Hearing impairment	9241	NOG	OMIM:186500
HP:0000365	Hearing impairment	2186	BPTF	ORPHA:529962
HP:0000365	Hearing impairment	1757	SARDH	ORPHA:3129
HP:0000365	Hearing impairment	10216	PRG4	ORPHA:2848
HP:0000365	Hearing impairment	54820	NDE1	ORPHA:2177
HP:0000365	Hearing impairment	22943	DKK1	ORPHA:268882
HP:0000365	Hearing impairment	1716	DGUOK	ORPHA:329314
HP:0000365	Hearing impairment	7809	BSND	ORPHA:89938
HP:0000365	Hearing impairment	1188	CLCNKB	ORPHA:89938
HP:0000365	Hearing impairment	1187	CLCNKA	ORPHA:89938
HP:0000365	Hearing impairment	27316	RBMX	OMIM:300238
HP:0000365	Hearing impairment	410	ARSA	ORPHA:309256
HP:0000365	Hearing impairment	410	ARSA	ORPHA:309271
HP:0000365	Hearing impairment	410	ARSA	ORPHA:309263
HP:0000365	Hearing impairment	23126	POGZ	OMIM:616364
HP:0000365	Hearing impairment	222662	LHFPL5	OMIM:610265
HP:0000365	Hearing impairment	84334	COA8	ORPHA:436271
HP:0000365	Hearing impairment	2521	FUS	ORPHA:275872
HP:0000365	Hearing impairment	7415	VCP	ORPHA:275872
HP:0000365	Hearing impairment	23435	TARDBP	ORPHA:275872
HP:0000365	Hearing impairment	29110	TBK1	ORPHA:275872
HP:0000365	Hearing impairment	400916	CHCHD10	ORPHA:275872
HP:0000365	Hearing impairment	643226	GRXCR2	OMIM:615837
HP:0000365	Hearing impairment	25914	RTTN	ORPHA:468631
HP:0000365	Hearing impairment	1288	COL4A6	OMIM:300914
HP:0000365	Hearing impairment	526	ATP6V1B2	OMIM:124480
HP:0000365	Hearing impairment	2811	GP1BA	ORPHA:853
HP:0000365	Hearing impairment	3674	ITGA2B	ORPHA:853
HP:0000365	Hearing impairment	3673	ITGA2	ORPHA:853
HP:0000365	Hearing impairment	135228	CD109	ORPHA:853
HP:0000365	Hearing impairment	3690	ITGB3	ORPHA:853
HP:0000365	Hearing impairment	4131	MAP1B	OMIM:619808
HP:0000365	Hearing impairment	51	ACOX1	OMIM:264470
HP:0000365	Hearing impairment	4512	MT-CO1	OMIM:540000
HP:0000365	Hearing impairment	4513	MT-CO2	OMIM:540000
HP:0000365	Hearing impairment	4514	MT-CO3	OMIM:540000
HP:0000365	Hearing impairment	4519	MT-CYB	OMIM:540000
HP:0000365	Hearing impairment	4511	MT-TC	OMIM:540000
HP:0000365	Hearing impairment	4575	MT-TS2	OMIM:540000
HP:0000365	Hearing impairment	4558	MT-TF	OMIM:540000
HP:0000365	Hearing impairment	4541	MT-ND6	OMIM:540000
HP:0000365	Hearing impairment	4540	MT-ND5	OMIM:540000
HP:0000365	Hearing impairment	4566	MT-TK	OMIM:540000
HP:0000365	Hearing impairment	4535	MT-ND1	OMIM:540000
HP:0000365	Hearing impairment	4572	MT-TQ	OMIM:540000
HP:0000365	Hearing impairment	4577	MT-TV	OMIM:540000
HP:0000365	Hearing impairment	4578	MT-TW	OMIM:540000
HP:0000365	Hearing impairment	55739	NAXD	OMIM:618321
HP:0000365	Hearing impairment	125336	LOXHD1	OMIM:613079
HP:0000365	Hearing impairment	8565	YARS1	OMIM:619418
HP:0000365	Hearing impairment	10381	TUBB3	ORPHA:300570
HP:0000365	Hearing impairment	131118	DNAJC19	ORPHA:66634
HP:0000365	Hearing impairment	2961	GTF2E2	OMIM:616943
HP:0000365	Hearing impairment	2961	GTF2E2	ORPHA:33364
HP:0000365	Hearing impairment	833	CARS1	ORPHA:33364
HP:0000365	Hearing impairment	7737	RNF113A	ORPHA:33364
HP:0000365	Hearing impairment	136647	MPLKIP	ORPHA:33364
HP:0000365	Hearing impairment	6897	TARS1	ORPHA:33364
HP:0000365	Hearing impairment	22856	CHSY1	OMIM:605282
HP:0000365	Hearing impairment	50617	ATP6V0A4	OMIM:602722
HP:0000365	Hearing impairment	5611	DNAJC3	ORPHA:445062
HP:0000365	Hearing impairment	219972	MPEG1	OMIM:619223
HP:0000365	Hearing impairment	10533	ATG7	OMIM:619422
HP:0000365	Hearing impairment	22808	MRAS	OMIM:618499
HP:0000365	Hearing impairment	4647	MYO7A	OMIM:601317
HP:0000365	Hearing impairment	92949	ADAMTSL1	ORPHA:521445
HP:0000365	Hearing impairment	117155	CATSPER2	OMIM:611102
HP:0000365	Hearing impairment	161497	STRC	OMIM:611102
HP:0000365	Hearing impairment	51776	MAP3K20	ORPHA:488232
HP:0000365	Hearing impairment	1834	DSPP	OMIM:605594
HP:0000365	Hearing impairment	4990	SIX6	OMIM:206900
HP:0000365	Hearing impairment	29899	GPSM2	OMIM:604213
HP:0000365	Hearing impairment	11078	TRIOBP	OMIM:609823
HP:0000365	Hearing impairment	30813	VSX1	OMIM:614195
HP:0000365	Hearing impairment	57479	PRR12	OMIM:619539
HP:0000365	Hearing impairment	55901	THSD1	OMIM:620244
HP:0000365	Hearing impairment	5962	RDX	OMIM:611022
HP:0000365	Hearing impairment	10518	CIB2	OMIM:609439
HP:0000365	Hearing impairment	6558	SLC12A2	OMIM:619081
HP:0000365	Hearing impairment	51168	MYO15A	OMIM:600316
HP:0000365	Hearing impairment	4574	MT-TS1	OMIM:580000
HP:0000365	Hearing impairment	55687	TRMU	OMIM:580000
HP:0000365	Hearing impairment	1801	DPH1	ORPHA:459061
HP:0000365	Hearing impairment	2059	EPS8	OMIM:615974
HP:0000365	Hearing impairment	847	CAT	ORPHA:926
HP:0000377	Abnormal pinna morphology	7528	YY1	ORPHA:506358
HP:0000377	Abnormal pinna morphology	7528	YY1	OMIM:617557
HP:0000377	Abnormal pinna morphology	8036	SHOC2	OMIM:607721
HP:0000377	Abnormal pinna morphology	10262	SF3B4	OMIM:154400
HP:0000377	Abnormal pinna morphology	8294	H4C9	OMIM:619951
HP:0000377	Abnormal pinna morphology	9853	RUSC2	OMIM:617773
HP:0000377	Abnormal pinna morphology	6659	SOX4	OMIM:618506
HP:0000377	Abnormal pinna morphology	161742	SPRED1	OMIM:611431
HP:0000377	Abnormal pinna morphology	51126	NAA20	OMIM:619717
HP:0000377	Abnormal pinna morphology	673	BRAF	OMIM:115150
HP:0000377	Abnormal pinna morphology	673	BRAF	OMIM:613707
HP:0000377	Abnormal pinna morphology	55627	SMPD4	OMIM:618622
HP:0000377	Abnormal pinna morphology	4897	NRCAM	OMIM:619833
HP:0000377	Abnormal pinna morphology	23126	POGZ	ORPHA:468678
HP:0000377	Abnormal pinna morphology	23126	POGZ	OMIM:616364
HP:0000377	Abnormal pinna morphology	4784	NFIX	ORPHA:447980
HP:0000377	Abnormal pinna morphology	4281	MID1	OMIM:300000
HP:0000377	Abnormal pinna morphology	4281	MID1	ORPHA:2745
HP:0000377	Abnormal pinna morphology	374654	KIF7	OMIM:200990
HP:0000377	Abnormal pinna morphology	3020	H3-3A	OMIM:619720
HP:0000377	Abnormal pinna morphology	80816	ASXL3	OMIM:615485
HP:0000377	Abnormal pinna morphology	129563	DIS3L2	ORPHA:2849
HP:0000377	Abnormal pinna morphology	4286	MITF	OMIM:617306
HP:0000377	Abnormal pinna morphology	10225	CD96	OMIM:211750
HP:0000377	Abnormal pinna morphology	9382	COG1	OMIM:611209
HP:0000377	Abnormal pinna morphology	5189	PEX1	OMIM:214100
HP:0000377	Abnormal pinna morphology	55650	PIGV	OMIM:239300
HP:0000377	Abnormal pinna morphology	6595	SMARCA2	OMIM:619293
HP:0000377	Abnormal pinna morphology	6595	SMARCA2	OMIM:601358
HP:0000377	Abnormal pinna morphology	2590	GALNT2	OMIM:618885
HP:0000377	Abnormal pinna morphology	57492	ARID1B	OMIM:135900
HP:0000377	Abnormal pinna morphology	64324	NSD1	OMIM:117550
HP:0000377	Abnormal pinna morphology	80204	FBXO11	OMIM:618089
HP:0000377	Abnormal pinna morphology	5119	CHMP1A	OMIM:614961
HP:0000377	Abnormal pinna morphology	1889	ECE1	OMIM:613870
HP:0000377	Abnormal pinna morphology	64359	NXN	OMIM:618529
HP:0000377	Abnormal pinna morphology	23184	MESD	OMIM:618644
HP:0000377	Abnormal pinna morphology	55858	TMEM165	OMIM:614727
HP:0000377	Abnormal pinna morphology	8546	AP3B1	OMIM:608233
HP:0000377	Abnormal pinna morphology	3339	HSPG2	ORPHA:1865
HP:0000377	Abnormal pinna morphology	3339	HSPG2	OMIM:224410
HP:0000377	Abnormal pinna morphology	7020	TFAP2A	OMIM:113620
HP:0000377	Abnormal pinna morphology	1717	DHCR7	OMIM:270400
HP:0000377	Abnormal pinna morphology	23116	TOGARAM1	OMIM:619185
HP:0000377	Abnormal pinna morphology	9401	RECQL4	OMIM:218600
HP:0000377	Abnormal pinna morphology	9839	ZEB2	ORPHA:261552
HP:0000377	Abnormal pinna morphology	9839	ZEB2	ORPHA:261537
HP:0000377	Abnormal pinna morphology	652	BMP4	OMIM:607932
HP:0000377	Abnormal pinna morphology	4330	MN1	OMIM:618774
HP:0000377	Abnormal pinna morphology	6885	MAP3K7	OMIM:157800
HP:0000377	Abnormal pinna morphology	55012	PPP2R3C	OMIM:618419
HP:0000377	Abnormal pinna morphology	1954	MEGF8	OMIM:614976
HP:0000377	Abnormal pinna morphology	23314	SATB2	OMIM:612313
HP:0000377	Abnormal pinna morphology	4598	MVK	OMIM:610377
HP:0000377	Abnormal pinna morphology	200734	SPRED2	OMIM:619745
HP:0000377	Abnormal pinna morphology	4036	LRP2	ORPHA:2143
HP:0000377	Abnormal pinna morphology	4036	LRP2	OMIM:222448
HP:0000377	Abnormal pinna morphology	26005	C2CD3	OMIM:615948
HP:0000377	Abnormal pinna morphology	3265	HRAS	OMIM:218040
HP:0000377	Abnormal pinna morphology	6234	RPS28	OMIM:606164
HP:0000377	Abnormal pinna morphology	9653	HS2ST1	OMIM:619194
HP:0000377	Abnormal pinna morphology	253738	EBF3	OMIM:617330
HP:0000377	Abnormal pinna morphology	8493	PPM1D	OMIM:617450
HP:0000377	Abnormal pinna morphology	26038	CHD5	OMIM:619873
HP:0000377	Abnormal pinna morphology	1182	CLCN3	OMIM:619512
HP:0000377	Abnormal pinna morphology	4593	MUSK	OMIM:208150
HP:0000377	Abnormal pinna morphology	4593	MUSK	ORPHA:994
HP:0000377	Abnormal pinna morphology	29081	METTL5	OMIM:618665
HP:0000377	Abnormal pinna morphology	6905	TBCE	OMIM:241410
HP:0000377	Abnormal pinna morphology	57680	CHD8	OMIM:615032
HP:0000377	Abnormal pinna morphology	8558	CDK10	OMIM:617694
HP:0000377	Abnormal pinna morphology	3572	IL6ST	OMIM:619750
HP:0000377	Abnormal pinna morphology	56006	SMG9	OMIM:616920
HP:0000377	Abnormal pinna morphology	1857	DVL3	ORPHA:3107
HP:0000377	Abnormal pinna morphology	7474	WNT5A	ORPHA:3107
HP:0000377	Abnormal pinna morphology	7474	WNT5A	OMIM:180700
HP:0000377	Abnormal pinna morphology	1855	DVL1	ORPHA:3107
HP:0000377	Abnormal pinna morphology	1855	DVL1	OMIM:180700
HP:0000377	Abnormal pinna morphology	2535	FZD2	ORPHA:3107
HP:0000377	Abnormal pinna morphology	2535	FZD2	OMIM:164745
HP:0000377	Abnormal pinna morphology	3845	KRAS	OMIM:615278
HP:0000377	Abnormal pinna morphology	3845	KRAS	OMIM:609942
HP:0000377	Abnormal pinna morphology	6660	SOX5	OMIM:616803
HP:0000377	Abnormal pinna morphology	285175	UNC80	OMIM:616801
HP:0000377	Abnormal pinna morphology	3211	HOXB1	OMIM:614744
HP:0000377	Abnormal pinna morphology	54499	TMCO1	OMIM:213980
HP:0000377	Abnormal pinna morphology	11128	POLR3A	OMIM:264090
HP:0000377	Abnormal pinna morphology	11128	POLR3A	ORPHA:3455
HP:0000377	Abnormal pinna morphology	4094	MAF	ORPHA:1272
HP:0000377	Abnormal pinna morphology	4094	MAF	OMIM:601088
HP:0000377	Abnormal pinna morphology	7750	ZMYM2	OMIM:619522
HP:0000377	Abnormal pinna morphology	6942	TCF20	OMIM:618430
HP:0000377	Abnormal pinna morphology	55670	PEX26	OMIM:614872
HP:0000377	Abnormal pinna morphology	23261	CAMTA1	OMIM:614756
HP:0000377	Abnormal pinna morphology	4763	NF1	OMIM:193520
HP:0000377	Abnormal pinna morphology	4763	NF1	OMIM:601321
HP:0000377	Abnormal pinna morphology	9772	TMEM94	OMIM:618316
HP:0000377	Abnormal pinna morphology	388015	RTL1	ORPHA:96334
HP:0000377	Abnormal pinna morphology	8788	DLK1	ORPHA:96334
HP:0000377	Abnormal pinna morphology	55384	MEG3	ORPHA:96334
HP:0000377	Abnormal pinna morphology	6231	RPS26	OMIM:613309
HP:0000377	Abnormal pinna morphology	2316	FLNA	OMIM:304120
HP:0000377	Abnormal pinna morphology	56975	FAM20C	ORPHA:1832
HP:0000377	Abnormal pinna morphology	56975	FAM20C	OMIM:259775
HP:0000377	Abnormal pinna morphology	55691	FRMD4A	OMIM:616819
HP:0000377	Abnormal pinna morphology	4920	ROR2	OMIM:268310
HP:0000377	Abnormal pinna morphology	51322	WAC	ORPHA:284169
HP:0000377	Abnormal pinna morphology	51322	WAC	OMIM:616708
HP:0000377	Abnormal pinna morphology	51322	WAC	ORPHA:466950
HP:0000377	Abnormal pinna morphology	4621	MYH3	OMIM:178110
HP:0000377	Abnormal pinna morphology	7030	TFE3	OMIM:301066
HP:0000377	Abnormal pinna morphology	6603	SMARCD2	OMIM:617475
HP:0000377	Abnormal pinna morphology	546	ATRX	OMIM:309580
HP:0000377	Abnormal pinna morphology	546	ATRX	OMIM:301040
HP:0000377	Abnormal pinna morphology	64919	BCL11B	OMIM:617237
HP:0000377	Abnormal pinna morphology	7994	KAT6A	OMIM:616268
HP:0000377	Abnormal pinna morphology	4087	SMAD2	OMIM:619657
HP:0000377	Abnormal pinna morphology	701	BUB1B	OMIM:257300
HP:0000377	Abnormal pinna morphology	157570	ESCO2	OMIM:268300
HP:0000377	Abnormal pinna morphology	171023	ASXL1	OMIM:605039
HP:0000377	Abnormal pinna morphology	8295	TRRAP	OMIM:618454
HP:0000377	Abnormal pinna morphology	9742	IFT140	OMIM:266920
HP:0000377	Abnormal pinna morphology	5781	PTPN11	OMIM:151100
HP:0000377	Abnormal pinna morphology	29123	ANKRD11	OMIM:148050
HP:0000377	Abnormal pinna morphology	8621	CDK13	OMIM:617360
HP:0000377	Abnormal pinna morphology	2033	EP300	OMIM:613684
HP:0000377	Abnormal pinna morphology	867	CBL	OMIM:613563
HP:0000377	Abnormal pinna morphology	22907	DHX30	OMIM:617804
HP:0000377	Abnormal pinna morphology	5426	POLE	OMIM:618336
HP:0000377	Abnormal pinna morphology	5081	PAX7	OMIM:618578
HP:0000377	Abnormal pinna morphology	51053	GMNN	OMIM:616835
HP:0000377	Abnormal pinna morphology	51053	GMNN	ORPHA:2554
HP:0000377	Abnormal pinna morphology	10664	CTCF	OMIM:615502
HP:0000377	Abnormal pinna morphology	2200	FBN1	ORPHA:2462
HP:0000377	Abnormal pinna morphology	6497	SKI	ORPHA:2462
HP:0000377	Abnormal pinna morphology	6497	SKI	OMIM:182212
HP:0000377	Abnormal pinna morphology	164	AP1G1	OMIM:619548
HP:0000377	Abnormal pinna morphology	6664	SOX11	OMIM:615866
HP:0000377	Abnormal pinna morphology	63895	PIEZO2	ORPHA:2461
HP:0000377	Abnormal pinna morphology	196528	ARID2	OMIM:617808
HP:0000377	Abnormal pinna morphology	8216	LZTR1	OMIM:605275
HP:0000377	Abnormal pinna morphology	6654	SOS1	OMIM:610733
HP:0000377	Abnormal pinna morphology	10075	HUWE1	OMIM:309590
HP:0000377	Abnormal pinna morphology	2879	GPX4	OMIM:250220
HP:0000377	Abnormal pinna morphology	9488	PIGB	OMIM:618580
HP:0000377	Abnormal pinna morphology	84706	GPT2	OMIM:616281
HP:0000377	Abnormal pinna morphology	55906	ZC4H2	OMIM:301041
HP:0000377	Abnormal pinna morphology	8504	PEX3	OMIM:617370
HP:0000377	Abnormal pinna morphology	8243	SMC1A	OMIM:301044
HP:0000377	Abnormal pinna morphology	8925	HERC1	OMIM:617011
HP:0000377	Abnormal pinna morphology	5898	RALA	OMIM:619311
HP:0000377	Abnormal pinna morphology	10466	COG5	ORPHA:263487
HP:0000377	Abnormal pinna morphology	6477	SIAH1	OMIM:619314
HP:0000377	Abnormal pinna morphology	2335	FN1	ORPHA:93315
HP:0000377	Abnormal pinna morphology	1280	COL2A1	ORPHA:93315
HP:0000377	Abnormal pinna morphology	23394	ADNP	OMIM:615873
HP:0000377	Abnormal pinna morphology	8092	ALX1	OMIM:613456
HP:0000377	Abnormal pinna morphology	6418	SET	OMIM:618106
HP:0000377	Abnormal pinna morphology	65062	TMEM237	OMIM:614424
HP:0000377	Abnormal pinna morphology	50814	NSDHL	ORPHA:251383
HP:0000377	Abnormal pinna morphology	50814	NSDHL	OMIM:300831
HP:0000377	Abnormal pinna morphology	55593	OTUD5	OMIM:301056
HP:0000377	Abnormal pinna morphology	56945	MRPS22	OMIM:611719
HP:0000377	Abnormal pinna morphology	128869	PIGU	OMIM:618590
HP:0000377	Abnormal pinna morphology	5575	PRKAR1B	OMIM:619680
HP:0000377	Abnormal pinna morphology	7707	ZNF148	OMIM:617260
HP:0000377	Abnormal pinna morphology	10847	SRCAP	OMIM:136140
HP:0000377	Abnormal pinna morphology	91179	SCARF2	OMIM:600920
HP:0000377	Abnormal pinna morphology	4854	NOTCH3	OMIM:130720
HP:0000377	Abnormal pinna morphology	4854	NOTCH3	ORPHA:2789
HP:0000377	Abnormal pinna morphology	6647	SOD1	OMIM:618598
HP:0000377	Abnormal pinna morphology	29998	BICRA	OMIM:619325
HP:0000377	Abnormal pinna morphology	5859	QARS1	OMIM:615760
HP:0000377	Abnormal pinna morphology	23030	KDM4B	OMIM:619320
HP:0000377	Abnormal pinna morphology	84162	BLTP1	OMIM:617822
HP:0000377	Abnormal pinna morphology	473	RERE	OMIM:616975
HP:0000377	Abnormal pinna morphology	2782	GNB1	OMIM:616973
HP:0000377	Abnormal pinna morphology	998	CDC42	OMIM:616737
HP:0000377	Abnormal pinna morphology	4081	MAB21L1	OMIM:618479
HP:0000377	Abnormal pinna morphology	5831	PYCR1	OMIM:614438
HP:0000377	Abnormal pinna morphology	10982	MAPRE2	OMIM:616734
HP:0000377	Abnormal pinna morphology	176	ACAN	OMIM:612813
HP:0000377	Abnormal pinna morphology	176	ACAN	ORPHA:171866
HP:0000377	Abnormal pinna morphology	2067	ERCC1	OMIM:610758
HP:0000377	Abnormal pinna morphology	9126	SMC3	OMIM:610759
HP:0000377	Abnormal pinna morphology	4131	MAP1B	OMIM:618918
HP:0000377	Abnormal pinna morphology	84892	POMGNT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	148789	B3GALNT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	79147	FKRP	ORPHA:899
HP:0000377	Abnormal pinna morphology	29954	POMT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	9215	LARGE1	ORPHA:899
HP:0000377	Abnormal pinna morphology	1282	COL4A1	ORPHA:899
HP:0000377	Abnormal pinna morphology	729920	CRPPA	ORPHA:899
HP:0000377	Abnormal pinna morphology	10329	RXYLT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	1605	DAG1	ORPHA:899
HP:0000377	Abnormal pinna morphology	11041	B4GAT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	10585	POMT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	84197	POMK	ORPHA:899
HP:0000377	Abnormal pinna morphology	2218	FKTN	ORPHA:899
HP:0000377	Abnormal pinna morphology	55624	POMGNT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	90161	HS6ST2	OMIM:301025
HP:0000377	Abnormal pinna morphology	81620	CDT1	ORPHA:2554
HP:0000377	Abnormal pinna morphology	5000	ORC4	ORPHA:2554
HP:0000377	Abnormal pinna morphology	23594	ORC6	ORPHA:2554
HP:0000377	Abnormal pinna morphology	23594	ORC6	OMIM:613803
HP:0000377	Abnormal pinna morphology	8318	CDC45	ORPHA:2554
HP:0000377	Abnormal pinna morphology	990	CDC6	ORPHA:2554
HP:0000377	Abnormal pinna morphology	4998	ORC1	ORPHA:2554
HP:0000377	Abnormal pinna morphology	1009	CDH11	OMIM:211380
HP:0000377	Abnormal pinna morphology	1000	CDH2	OMIM:618929
HP:0000377	Abnormal pinna morphology	63931	MRPS14	OMIM:618378
HP:0000377	Abnormal pinna morphology	22808	MRAS	OMIM:618499
HP:0000377	Abnormal pinna morphology	1822	ATN1	OMIM:618494
HP:0000377	Abnormal pinna morphology	5144	PDE4D	ORPHA:439822
HP:0000377	Abnormal pinna morphology	4613	MYCN	OMIM:164280
HP:0000377	Abnormal pinna morphology	6304	SATB1	OMIM:619229
HP:0000377	Abnormal pinna morphology	139285	AMER1	ORPHA:2780
HP:0000377	Abnormal pinna morphology	139285	AMER1	OMIM:300373
HP:0000377	Abnormal pinna morphology	158326	FREM1	OMIM:608980
HP:0000377	Abnormal pinna morphology	2737	GLI3	OMIM:146510
HP:0000377	Abnormal pinna morphology	4927	NUP88	ORPHA:994
HP:0000377	Abnormal pinna morphology	4927	NUP88	OMIM:618393
HP:0000377	Abnormal pinna morphology	7846	TUBA1A	ORPHA:994
HP:0000377	Abnormal pinna morphology	4654	MYOD1	ORPHA:994
HP:0000377	Abnormal pinna morphology	5913	RAPSN	ORPHA:994
HP:0000377	Abnormal pinna morphology	6572	SLC18A3	ORPHA:994
HP:0000377	Abnormal pinna morphology	285489	DOK7	ORPHA:994
HP:0000377	Abnormal pinna morphology	9851	KIAA0753	OMIM:619476
HP:0000377	Abnormal pinna morphology	9851	KIAA0753	OMIM:619479
HP:0000377	Abnormal pinna morphology	6628	SNRPB	OMIM:117650
HP:0000377	Abnormal pinna morphology	8812	CCNK	OMIM:618147
HP:0000377	Abnormal pinna morphology	65250	CPLANE1	OMIM:277170
HP:0000377	Abnormal pinna morphology	5977	DPF2	OMIM:618027
HP:0000377	Abnormal pinna morphology	10526	IPO8	OMIM:619472
HP:0000377	Abnormal pinna morphology	94005	PIGS	OMIM:618143
HP:0000377	Abnormal pinna morphology	145173	B3GLCT	OMIM:261540
HP:0000377	Abnormal pinna morphology	8929	PHOX2B	OMIM:209880
HP:0000377	Abnormal pinna morphology	29957	SLC25A24	OMIM:612289
HP:0000377	Abnormal pinna morphology	8405	SPOP	OMIM:618829
HP:0000377	Abnormal pinna morphology	11198	SUPT16H	OMIM:619480
HP:0000377	Abnormal pinna morphology	8720	MBTPS1	OMIM:618392
HP:0000377	Abnormal pinna morphology	10682	EBP	OMIM:300960
HP:0000377	Abnormal pinna morphology	113189	CHST14	OMIM:601776
HP:0000377	Abnormal pinna morphology	3636	INPPL1	OMIM:258480
HP:0000377	Abnormal pinna morphology	2222	FDFT1	OMIM:618156
HP:0000377	Abnormal pinna morphology	203068	TUBB	OMIM:156610
HP:0000377	Abnormal pinna morphology	374879	ZNF699	OMIM:619488
HP:0000377	Abnormal pinna morphology	8239	USP9X	OMIM:300968
HP:0000377	Abnormal pinna morphology	114928	GPRASP2	OMIM:301018
HP:0000377	Abnormal pinna morphology	83737	ITCH	OMIM:613385
HP:0000377	Abnormal pinna morphology	28957	MRPS28	OMIM:618958
HP:0000377	Abnormal pinna morphology	5500	PPP1CB	OMIM:617506
HP:0000377	Abnormal pinna morphology	64093	SMOC1	OMIM:206920
HP:0000377	Abnormal pinna morphology	118924	FRA10AC1	OMIM:620113
HP:0000377	Abnormal pinna morphology	2273	FHL1	OMIM:300280
HP:0000377	Abnormal pinna morphology	55252	ASXL2	OMIM:617190
HP:0000377	Abnormal pinna morphology	1376	CPT2	OMIM:608836
HP:0000377	Abnormal pinna morphology	126792	B3GALT6	ORPHA:536467
HP:0000377	Abnormal pinna morphology	650	BMP2	OMIM:617877
HP:0000377	Abnormal pinna morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000377	Abnormal pinna morphology	8777	MPDZ	OMIM:615219
HP:0000377	Abnormal pinna morphology	170692	ADAMTS18	OMIM:615458
HP:0000377	Abnormal pinna morphology	9757	KMT2B	OMIM:619934
HP:0000377	Abnormal pinna morphology	84081	NSRP1	OMIM:620001
HP:0000377	Abnormal pinna morphology	1302	COL11A2	ORPHA:1427
HP:0000377	Abnormal pinna morphology	26123	TCTN3	ORPHA:2753
HP:0000377	Abnormal pinna morphology	11011	TLK2	OMIM:618050
HP:0000377	Abnormal pinna morphology	55181	SMG8	OMIM:619268
HP:0000377	Abnormal pinna morphology	101929726	MYMX	OMIM:619941
HP:0000377	Abnormal pinna morphology	23404	EXOSC2	OMIM:617763
HP:0000377	Abnormal pinna morphology	8665	EIF3F	OMIM:618295
HP:0000377	Abnormal pinna morphology	4921	DDR2	OMIM:618175
HP:0000377	Abnormal pinna morphology	10736	SIX2	ORPHA:488437
HP:0000377	Abnormal pinna morphology	10082	GPC6	ORPHA:93329
HP:0000377	Abnormal pinna morphology	2260	FGFR1	OMIM:615465
HP:0000377	Abnormal pinna morphology	8449	DHX16	OMIM:618733
HP:0000377	Abnormal pinna morphology	9373	PLAA	OMIM:617527
HP:0000377	Abnormal pinna morphology	25886	POC1A	OMIM:614813
HP:0000377	Abnormal pinna morphology	8085	KMT2D	OMIM:147920
HP:0000377	Abnormal pinna morphology	7403	KDM6A	OMIM:147920
HP:0000377	Abnormal pinna morphology	4247	MGAT2	ORPHA:79329
HP:0000377	Abnormal pinna morphology	1718	DHCR24	ORPHA:35107
HP:0000377	Abnormal pinna morphology	613	BCR	ORPHA:261330
HP:0000377	Abnormal pinna morphology	1399	CRKL	ORPHA:261330
HP:0000377	Abnormal pinna morphology	5594	MAPK1	ORPHA:261330
HP:0000377	Abnormal pinna morphology	57061	HYMAI	ORPHA:96191
HP:0000377	Abnormal pinna morphology	5325	PLAGL1	ORPHA:96191
HP:0000377	Abnormal pinna morphology	1836	SLC26A2	ORPHA:93307
HP:0000377	Abnormal pinna morphology	5879	RAC1	ORPHA:500159
HP:0000377	Abnormal pinna morphology	545	ATR	ORPHA:808
HP:0000377	Abnormal pinna morphology	1062	CENPE	ORPHA:808
HP:0000377	Abnormal pinna morphology	5116	PCNT	ORPHA:808
HP:0000377	Abnormal pinna morphology	5932	RBBP8	ORPHA:808
HP:0000377	Abnormal pinna morphology	79902	NUP85	ORPHA:808
HP:0000377	Abnormal pinna morphology	84126	ATRIP	ORPHA:808
HP:0000377	Abnormal pinna morphology	55835	CENPJ	ORPHA:808
HP:0000377	Abnormal pinna morphology	10293	TRAIP	ORPHA:808
HP:0000377	Abnormal pinna morphology	22995	CEP152	ORPHA:808
HP:0000377	Abnormal pinna morphology	10733	PLK4	ORPHA:808
HP:0000377	Abnormal pinna morphology	8450	CUL4B	ORPHA:85293
HP:0000377	Abnormal pinna morphology	54539	NDUFB11	ORPHA:2556
HP:0000377	Abnormal pinna morphology	1349	COX7B	ORPHA:2556
HP:0000377	Abnormal pinna morphology	3052	HCCS	ORPHA:2556
HP:0000377	Abnormal pinna morphology	5447	POR	ORPHA:95699
HP:0000377	Abnormal pinna morphology	27125	AFF4	ORPHA:444077
HP:0000377	Abnormal pinna morphology	7372	UMPS	ORPHA:30
HP:0000377	Abnormal pinna morphology	4867	NPHP1	ORPHA:220497
HP:0000377	Abnormal pinna morphology	4867	NPHP1	ORPHA:110
HP:0000377	Abnormal pinna morphology	72	ACTG2	ORPHA:2604
HP:0000377	Abnormal pinna morphology	55780	ERMARD	ORPHA:75857
HP:0000377	Abnormal pinna morphology	9723	SEMA3E	ORPHA:138
HP:0000377	Abnormal pinna morphology	4952	OCRL	ORPHA:534
HP:0000377	Abnormal pinna morphology	3039	HBA1	ORPHA:98791
HP:0000377	Abnormal pinna morphology	3040	HBA2	ORPHA:98791
HP:0000377	Abnormal pinna morphology	134701	RIPPLY2	ORPHA:2311
HP:0000377	Abnormal pinna morphology	10683	DLL3	ORPHA:2311
HP:0000377	Abnormal pinna morphology	3955	LFNG	ORPHA:2311
HP:0000377	Abnormal pinna morphology	84667	HES7	ORPHA:2311
HP:0000377	Abnormal pinna morphology	145873	MESP2	ORPHA:2311
HP:0000377	Abnormal pinna morphology	51524	TMEM138	ORPHA:2318
HP:0000377	Abnormal pinna morphology	23090	ZNF423	ORPHA:2318
HP:0000377	Abnormal pinna morphology	80184	CEP290	ORPHA:2318
HP:0000377	Abnormal pinna morphology	80184	CEP290	ORPHA:564
HP:0000377	Abnormal pinna morphology	80184	CEP290	ORPHA:110
HP:0000377	Abnormal pinna morphology	57096	RPGRIP1	ORPHA:564
HP:0000377	Abnormal pinna morphology	10815	CPLX1	ORPHA:280
HP:0000377	Abnormal pinna morphology	54872	PIGG	ORPHA:280
HP:0000377	Abnormal pinna morphology	7469	NELFA	ORPHA:280
HP:0000377	Abnormal pinna morphology	1487	CTBP1	ORPHA:280
HP:0000377	Abnormal pinna morphology	7468	NSD2	ORPHA:280
HP:0000377	Abnormal pinna morphology	9184	BUB3	ORPHA:1052
HP:0000377	Abnormal pinna morphology	699	BUB1	ORPHA:1052
HP:0000377	Abnormal pinna morphology	1501	CTNND2	ORPHA:281
HP:0000377	Abnormal pinna morphology	9037	SEMA5A	ORPHA:281
HP:0000377	Abnormal pinna morphology	10716	TBR1	ORPHA:1617
HP:0000377	Abnormal pinna morphology	2313	FLI1	ORPHA:2308
HP:0000377	Abnormal pinna morphology	92482	BBIP1	ORPHA:110
HP:0000377	Abnormal pinna morphology	11020	IFT27	ORPHA:110
HP:0000377	Abnormal pinna morphology	582	BBS1	ORPHA:110
HP:0000377	Abnormal pinna morphology	49855	SCAPER	ORPHA:110
HP:0000377	Abnormal pinna morphology	51057	WDPCP	ORPHA:110
HP:0000377	Abnormal pinna morphology	27241	BBS9	ORPHA:110
HP:0000377	Abnormal pinna morphology	84984	CEP19	ORPHA:110
HP:0000377	Abnormal pinna morphology	22954	TRIM32	ORPHA:110
HP:0000377	Abnormal pinna morphology	79738	BBS10	ORPHA:110
HP:0000377	Abnormal pinna morphology	123016	TTC8	ORPHA:110
HP:0000377	Abnormal pinna morphology	26160	IFT172	ORPHA:110
HP:0000377	Abnormal pinna morphology	583	BBS2	ORPHA:110
HP:0000377	Abnormal pinna morphology	585	BBS4	ORPHA:110
HP:0000377	Abnormal pinna morphology	8195	MKKS	ORPHA:110
HP:0000377	Abnormal pinna morphology	54585	LZTFL1	ORPHA:110
HP:0000377	Abnormal pinna morphology	55212	BBS7	ORPHA:110
HP:0000377	Abnormal pinna morphology	166379	BBS12	ORPHA:110
HP:0000377	Abnormal pinna morphology	10806	SDCCAG8	ORPHA:110
HP:0000377	Abnormal pinna morphology	157657	CFAP418	ORPHA:110
HP:0000377	Abnormal pinna morphology	84100	ARL6	ORPHA:110
HP:0000377	Abnormal pinna morphology	129880	BBS5	ORPHA:110
HP:0000377	Abnormal pinna morphology	80173	IFT74	ORPHA:110
HP:0000377	Abnormal pinna morphology	10908	PNPLA6	ORPHA:2377
HP:0000377	Abnormal pinna morphology	5590	PRKCZ	ORPHA:1606
HP:0000377	Abnormal pinna morphology	2563	GABRD	ORPHA:1606
HP:0000377	Abnormal pinna morphology	8510	MMP23B	ORPHA:1606
HP:0000377	Abnormal pinna morphology	7798	LUZP1	ORPHA:1606
HP:0000377	Abnormal pinna morphology	10630	PDPN	ORPHA:1606
HP:0000377	Abnormal pinna morphology	10277	UBE4B	ORPHA:1606
HP:0000377	Abnormal pinna morphology	8514	KCNAB2	ORPHA:1606
HP:0000377	Abnormal pinna morphology	63976	PRDM16	ORPHA:1606
HP:0000377	Abnormal pinna morphology	54897	CASZ1	ORPHA:1606
HP:0000377	Abnormal pinna morphology	25914	RTTN	ORPHA:468631
HP:0000377	Abnormal pinna morphology	2131	EXT1	ORPHA:502
HP:0000377	Abnormal pinna morphology	10743	RAI1	ORPHA:1713
HP:0000377	Abnormal pinna morphology	5495	PPM1B	ORPHA:163693
HP:0000377	Abnormal pinna morphology	6519	SLC3A1	ORPHA:163693
HP:0000377	Abnormal pinna morphology	9581	PREPL	ORPHA:163693
HP:0000377	Abnormal pinna morphology	79823	CAMKMT	ORPHA:163693
HP:0000377	Abnormal pinna morphology	5824	PEX19	ORPHA:44
HP:0000377	Abnormal pinna morphology	9409	PEX16	ORPHA:44
HP:0000377	Abnormal pinna morphology	5190	PEX6	ORPHA:44
HP:0000377	Abnormal pinna morphology	8799	PEX11B	ORPHA:44
HP:0000377	Abnormal pinna morphology	5194	PEX13	ORPHA:44
HP:0000377	Abnormal pinna morphology	5195	PEX14	ORPHA:44
HP:0000377	Abnormal pinna morphology	59341	TRPV4	ORPHA:2635
HP:0000377	Abnormal pinna morphology	22800	RRAS2	ORPHA:648
HP:0000377	Abnormal pinna morphology	6237	RRAS	ORPHA:648
HP:0000377	Abnormal pinna morphology	6655	SOS2	ORPHA:648
HP:0000377	Abnormal pinna morphology	5922	RASA2	ORPHA:648
HP:0000377	Abnormal pinna morphology	9939	RBM8A	ORPHA:3320
HP:0000377	Abnormal pinna morphology	64131	XYLT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	124583	CANT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	10210	TOPORS	ORPHA:2754
HP:0000377	Abnormal pinna morphology	5147	PDE6D	ORPHA:2754
HP:0000377	Abnormal pinna morphology	317662	FAM149B1	ORPHA:2754
HP:0000377	Abnormal pinna morphology	3239	HOXD13	ORPHA:887
HP:0000377	Abnormal pinna morphology	6736	SRY	ORPHA:1772
HP:0000377	Abnormal pinna morphology	23019	CNOT1	OMIM:618500
HP:0000377	Abnormal pinna morphology	23019	CNOT1	ORPHA:556955
HP:0000377	Abnormal pinna morphology	28981	IFT81	OMIM:617895
HP:0000377	Abnormal pinna morphology	6228	RPS23	OMIM:617412
HP:0000377	Abnormal pinna morphology	7360	UGP2	OMIM:618744
HP:0000377	Abnormal pinna morphology	7021	TFAP2B	OMIM:169100
HP:0000377	Abnormal pinna morphology	51	ACOX1	ORPHA:2971
HP:0000377	Abnormal pinna morphology	51	ACOX1	OMIM:264470
HP:0000377	Abnormal pinna morphology	55209	SETD5	ORPHA:404440
HP:0000377	Abnormal pinna morphology	55209	SETD5	OMIM:615761
HP:0000377	Abnormal pinna morphology	6662	SOX9	ORPHA:140
HP:0000377	Abnormal pinna morphology	6662	SOX9	OMIM:114290
HP:0000377	Abnormal pinna morphology	2073	ERCC5	OMIM:616570
HP:0000377	Abnormal pinna morphology	9578	CDC42BPB	OMIM:619841
HP:0000377	Abnormal pinna morphology	8942	KYNU	OMIM:617661
HP:0000377	Abnormal pinna morphology	283489	CHAMP1	OMIM:616579
HP:0000377	Abnormal pinna morphology	27245	AHDC1	ORPHA:412069
HP:0000377	Abnormal pinna morphology	27245	AHDC1	OMIM:615829
HP:0000377	Abnormal pinna morphology	23426	GRIP1	OMIM:617667
HP:0000377	Abnormal pinna morphology	341640	FREM2	OMIM:617666
HP:0000377	Abnormal pinna morphology	818	CAMK2G	OMIM:618522
HP:0000377	Abnormal pinna morphology	10606	PAICS	OMIM:619859
HP:0000377	Abnormal pinna morphology	81857	MED25	ORPHA:464738
HP:0000377	Abnormal pinna morphology	81857	MED25	OMIM:616449
HP:0000377	Abnormal pinna morphology	55681	SCYL2	OMIM:618766
HP:0000377	Abnormal pinna morphology	857	CAV1	OMIM:606721
HP:0000377	Abnormal pinna morphology	11285	B4GALT7	OMIM:130070
HP:0000377	Abnormal pinna morphology	55768	NGLY1	OMIM:615273
HP:0000377	Abnormal pinna morphology	1909	EDNRA	OMIM:616367
HP:0000377	Abnormal pinna morphology	5593	PRKG2	OMIM:619636
HP:0000377	Abnormal pinna morphology	79770	TXNDC15	OMIM:619879
HP:0000377	Abnormal pinna morphology	5979	RET	ORPHA:1848
HP:0000377	Abnormal pinna morphology	8516	ITGA8	ORPHA:1848
HP:0000377	Abnormal pinna morphology	8516	ITGA8	OMIM:191830
HP:0000377	Abnormal pinna morphology	26281	FGF20	ORPHA:1848
HP:0000377	Abnormal pinna morphology	2674	GFRA1	ORPHA:1848
HP:0000377	Abnormal pinna morphology	7484	WNT9B	ORPHA:1848
HP:0000377	Abnormal pinna morphology	80000	GREB1L	ORPHA:1848
HP:0000377	Abnormal pinna morphology	253959	RALGAPA1	OMIM:618797
HP:0000377	Abnormal pinna morphology	56098	PCDHGC4	OMIM:619880
HP:0000377	Abnormal pinna morphology	3930	LBR	OMIM:215140
HP:0000377	Abnormal pinna morphology	23483	TGDS	OMIM:616145
HP:0000377	Abnormal pinna morphology	54916	TMEM260	OMIM:617478
HP:0000377	Abnormal pinna morphology	23499	MACF1	OMIM:618325
HP:0000377	Abnormal pinna morphology	6135	RPL11	ORPHA:124
HP:0000377	Abnormal pinna morphology	6138	RPL15	ORPHA:124
HP:0000377	Abnormal pinna morphology	6229	RPS24	ORPHA:124
HP:0000377	Abnormal pinna morphology	6125	RPL5	ORPHA:124
HP:0000377	Abnormal pinna morphology	6204	RPS10	ORPHA:124
HP:0000377	Abnormal pinna morphology	6224	RPS20	ORPHA:124
HP:0000377	Abnormal pinna morphology	6165	RPL35A	ORPHA:124
HP:0000377	Abnormal pinna morphology	6165	RPL35A	OMIM:612528
HP:0000377	Abnormal pinna morphology	2623	GATA1	ORPHA:124
HP:0000377	Abnormal pinna morphology	6223	RPS19	ORPHA:124
HP:0000377	Abnormal pinna morphology	6232	RPS27	ORPHA:124
HP:0000377	Abnormal pinna morphology	11224	RPL35	ORPHA:124
HP:0000377	Abnormal pinna morphology	6160	RPL31	ORPHA:124
HP:0000377	Abnormal pinna morphology	6218	RPS17	ORPHA:124
HP:0000377	Abnormal pinna morphology	6201	RPS7	ORPHA:124
HP:0000377	Abnormal pinna morphology	6155	RPL27	ORPHA:124
HP:0000377	Abnormal pinna morphology	6154	RPL26	ORPHA:124
HP:0000377	Abnormal pinna morphology	6210	RPS15A	ORPHA:124
HP:0000377	Abnormal pinna morphology	90121	TSR2	ORPHA:124
HP:0000377	Abnormal pinna morphology	6141	RPL18	ORPHA:124
HP:0000377	Abnormal pinna morphology	6235	RPS29	ORPHA:124
HP:0000377	Abnormal pinna morphology	51816	ADA2	ORPHA:124
HP:0000377	Abnormal pinna morphology	404672	GTF2H5	OMIM:616395
HP:0000377	Abnormal pinna morphology	1387	CREBBP	OMIM:618332
HP:0000377	Abnormal pinna morphology	1387	CREBBP	OMIM:180849
HP:0000377	Abnormal pinna morphology	1387	CREBBP	ORPHA:353277
HP:0000377	Abnormal pinna morphology	1917	EEF1A2	OMIM:616393
HP:0000377	Abnormal pinna morphology	54101	RIPK4	OMIM:263650
HP:0000377	Abnormal pinna morphology	60529	ALX4	ORPHA:228390
HP:0000377	Abnormal pinna morphology	60529	ALX4	OMIM:613451
HP:0000377	Abnormal pinna morphology	26173	INTS1	OMIM:618571
HP:0000377	Abnormal pinna morphology	256297	PTF1A	ORPHA:65288
HP:0000377	Abnormal pinna morphology	256297	PTF1A	OMIM:609069
HP:0000377	Abnormal pinna morphology	1523	CUX1	OMIM:618330
HP:0000377	Abnormal pinna morphology	4212	MEIS2	ORPHA:261190
HP:0000377	Abnormal pinna morphology	4212	MEIS2	OMIM:600987
HP:0000377	Abnormal pinna morphology	5813	PURA	ORPHA:314655
HP:0000377	Abnormal pinna morphology	51574	LARP7	OMIM:615071
HP:0000377	Abnormal pinna morphology	51574	LARP7	ORPHA:319671
HP:0000377	Abnormal pinna morphology	2187	FANCB	OMIM:300514
HP:0000377	Abnormal pinna morphology	8473	OGT	OMIM:300997
HP:0000377	Abnormal pinna morphology	54517	PUS7	OMIM:618342
HP:0000377	Abnormal pinna morphology	51259	TMEM216	OMIM:608091
HP:0000377	Abnormal pinna morphology	56623	INPP5E	OMIM:213300
HP:0000377	Abnormal pinna morphology	56623	INPP5E	ORPHA:1454
HP:0000377	Abnormal pinna morphology	56623	INPP5E	ORPHA:475
HP:0000377	Abnormal pinna morphology	4703	NEB	OMIM:256030
HP:0000377	Abnormal pinna morphology	4703	NEB	ORPHA:171433
HP:0000377	Abnormal pinna morphology	4703	NEB	ORPHA:171430
HP:0000377	Abnormal pinna morphology	2972	BRF1	ORPHA:444072
HP:0000377	Abnormal pinna morphology	2972	BRF1	OMIM:616202
HP:0000377	Abnormal pinna morphology	91754	NEK9	OMIM:617022
HP:0000377	Abnormal pinna morphology	5649	RELN	ORPHA:89844
HP:0000377	Abnormal pinna morphology	6492	SIM1	ORPHA:171829
HP:0000377	Abnormal pinna morphology	114803	MYSM1	OMIM:618116
HP:0000377	Abnormal pinna morphology	51114	ZDHHC9	ORPHA:776
HP:0000377	Abnormal pinna morphology	65109	UPF3B	ORPHA:776
HP:0000377	Abnormal pinna morphology	55777	MBD5	OMIM:156200
HP:0000377	Abnormal pinna morphology	1312	COMT	ORPHA:567
HP:0000377	Abnormal pinna morphology	221037	JMJD1C	ORPHA:567
HP:0000377	Abnormal pinna morphology	2812	GP1BB	ORPHA:567
HP:0000377	Abnormal pinna morphology	6239	RREB1	ORPHA:567
HP:0000377	Abnormal pinna morphology	6899	TBX1	ORPHA:567
HP:0000377	Abnormal pinna morphology	6899	TBX1	OMIM:188400
HP:0000377	Abnormal pinna morphology	7290	HIRA	ORPHA:567
HP:0000377	Abnormal pinna morphology	9632	SEC24C	ORPHA:567
HP:0000377	Abnormal pinna morphology	7353	UFD1	ORPHA:567
HP:0000377	Abnormal pinna morphology	421	ARVCF	ORPHA:567
HP:0000377	Abnormal pinna morphology	7703	PCGF2	OMIM:618371
HP:0000377	Abnormal pinna morphology	23111	SPART	ORPHA:101000
HP:0000377	Abnormal pinna morphology	51729	WBP11	OMIM:619227
HP:0000377	Abnormal pinna morphology	50801	KCNK4	OMIM:618381
HP:0000377	Abnormal pinna morphology	64840	PORCN	ORPHA:2092
HP:0000377	Abnormal pinna morphology	64840	PORCN	OMIM:305600
HP:0000377	Abnormal pinna morphology	92002	CCNQ	OMIM:300707
HP:0000377	Abnormal pinna morphology	1457	CSNK2A1	OMIM:617062
HP:0000377	Abnormal pinna morphology	8567	MADD	OMIM:619004
HP:0000377	Abnormal pinna morphology	91875	TTC5	OMIM:619244
HP:0000377	Abnormal pinna morphology	2799	GNS	OMIM:252940
HP:0000377	Abnormal pinna morphology	199221	DZIP1L	ORPHA:731
HP:0000377	Abnormal pinna morphology	5314	PKHD1	ORPHA:731
HP:0000377	Abnormal pinna morphology	7169	TPM2	OMIM:108120
HP:0000377	Abnormal pinna morphology	403	ARL3	OMIM:618161
HP:0000377	Abnormal pinna morphology	403	ARL3	ORPHA:475
HP:0000377	Abnormal pinna morphology	80267	EDEM3	OMIM:619493
HP:0000377	Abnormal pinna morphology	84231	TRAF7	OMIM:618164
HP:0000377	Abnormal pinna morphology	89970	RSPRY1	ORPHA:457395
HP:0000377	Abnormal pinna morphology	89970	RSPRY1	OMIM:616723
HP:0000377	Abnormal pinna morphology	5557	PRIM1	OMIM:620005
HP:0000377	Abnormal pinna morphology	10020	GNE	ORPHA:3166
HP:0000377	Abnormal pinna morphology	10020	GNE	OMIM:269921
HP:0000377	Abnormal pinna morphology	219844	HYLS1	OMIM:236680
HP:0000377	Abnormal pinna morphology	219844	HYLS1	ORPHA:475
HP:0000377	Abnormal pinna morphology	219844	HYLS1	ORPHA:2189
HP:0000377	Abnormal pinna morphology	9897	WASHC5	ORPHA:7
HP:0000377	Abnormal pinna morphology	9897	WASHC5	OMIM:220210
HP:0000377	Abnormal pinna morphology	28952	CCDC22	ORPHA:7
HP:0000377	Abnormal pinna morphology	51626	DYNC2LI1	OMIM:617088
HP:0000377	Abnormal pinna morphology	118429	ANTXR2	OMIM:228600
HP:0000377	Abnormal pinna morphology	84168	ANTXR1	ORPHA:2067
HP:0000377	Abnormal pinna morphology	168667	BMPER	OMIM:608022
HP:0000377	Abnormal pinna morphology	2294	FOXF1	OMIM:265380
HP:0000377	Abnormal pinna morphology	5393	EXOSC9	OMIM:618065
HP:0000377	Abnormal pinna morphology	57539	WDR35	OMIM:613610
HP:0000377	Abnormal pinna morphology	80144	FRAS1	OMIM:219000
HP:0000377	Abnormal pinna morphology	89910	UBE3B	OMIM:244450
HP:0000377	Abnormal pinna morphology	4010	LMX1B	ORPHA:495818
HP:0000377	Abnormal pinna morphology	6812	STXBP1	ORPHA:495818
HP:0000377	Abnormal pinna morphology	55788	LMBRD1	OMIM:277380
HP:0000377	Abnormal pinna morphology	26153	KIF26A	OMIM:620156
HP:0000377	Abnormal pinna morphology	1301	COL11A1	OMIM:154780
HP:0000377	Abnormal pinna morphology	1301	COL11A1	OMIM:228520
HP:0000377	Abnormal pinna morphology	1301	COL11A1	ORPHA:2021
HP:0000377	Abnormal pinna morphology	56992	KIF15	ORPHA:261323
HP:0000377	Abnormal pinna morphology	1801	DPH1	OMIM:616901
HP:0000377	Abnormal pinna morphology	1801	DPH1	ORPHA:459061
HP:0000377	Abnormal pinna morphology	1509	CTSD	OMIM:610127
HP:0000377	Abnormal pinna morphology	23325	WASHC4	OMIM:615817
HP:0000377	Abnormal pinna morphology	9896	FIG4	ORPHA:3472
HP:0000377	Abnormal pinna morphology	9896	FIG4	OMIM:216340
HP:0000377	Abnormal pinna morphology	55697	VAC14	ORPHA:3472
HP:0000377	Abnormal pinna morphology	23036	ZNF292	OMIM:619188
HP:0000377	Abnormal pinna morphology	55148	UBR7	OMIM:619189
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	OMIM:278250
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	OMIM:219200
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000377	Abnormal pinna morphology	79867	TCTN2	OMIM:613885
HP:0000377	Abnormal pinna morphology	79867	TCTN2	ORPHA:475
HP:0000377	Abnormal pinna morphology	55636	CHD7	OMIM:214800
HP:0000377	Abnormal pinna morphology	63894	VIPAS39	OMIM:613404
HP:0000377	Abnormal pinna morphology	83879	CDCA7	OMIM:616910
HP:0000377	Abnormal pinna morphology	83879	CDCA7	ORPHA:2268
HP:0000377	Abnormal pinna morphology	79053	ALG8	OMIM:608104
HP:0000377	Abnormal pinna morphology	79053	ALG8	ORPHA:79325
HP:0000377	Abnormal pinna morphology	54084	TSPEAR	OMIM:620173
HP:0000377	Abnormal pinna morphology	10801	SEPTIN9	OMIM:162100
HP:0000377	Abnormal pinna morphology	9508	ADAMTS3	ORPHA:2136
HP:0000377	Abnormal pinna morphology	147372	CCBE1	ORPHA:2136
HP:0000377	Abnormal pinna morphology	147372	CCBE1	OMIM:235510
HP:0000377	Abnormal pinna morphology	79633	FAT4	ORPHA:2136
HP:0000377	Abnormal pinna morphology	26053	AUTS2	OMIM:615834
HP:0000377	Abnormal pinna morphology	26053	AUTS2	ORPHA:352490
HP:0000377	Abnormal pinna morphology	10013	HDAC6	ORPHA:163966
HP:0000377	Abnormal pinna morphology	10013	HDAC6	OMIM:300863
HP:0000377	Abnormal pinna morphology	23137	SMC5	OMIM:620185
HP:0000377	Abnormal pinna morphology	8481	OFD1	OMIM:311200
HP:0000377	Abnormal pinna morphology	8481	OFD1	OMIM:300804
HP:0000377	Abnormal pinna morphology	8481	OFD1	OMIM:300209
HP:0000377	Abnormal pinna morphology	10472	ZBTB18	OMIM:612337
HP:0000377	Abnormal pinna morphology	10472	ZBTB18	ORPHA:36367
HP:0000377	Abnormal pinna morphology	2255	FGF10	ORPHA:2363
HP:0000377	Abnormal pinna morphology	158	ADSL	ORPHA:46
HP:0000377	Abnormal pinna morphology	158	ADSL	OMIM:103050
HP:0000377	Abnormal pinna morphology	9652	SKIC3	OMIM:222470
HP:0000377	Abnormal pinna morphology	64116	SLC39A8	ORPHA:468699
HP:0000377	Abnormal pinna morphology	3166	HMX1	OMIM:612109
HP:0000377	Abnormal pinna morphology	6509	SLC1A4	ORPHA:447997
HP:0000377	Abnormal pinna morphology	4208	MEF2C	OMIM:613443
HP:0000377	Abnormal pinna morphology	7407	VARS1	OMIM:617802
HP:0000377	Abnormal pinna morphology	10535	RNASEH2A	ORPHA:51
HP:0000377	Abnormal pinna morphology	10535	RNASEH2A	OMIM:610333
HP:0000377	Abnormal pinna morphology	84153	RNASEH2C	ORPHA:51
HP:0000377	Abnormal pinna morphology	25939	SAMHD1	ORPHA:51
HP:0000377	Abnormal pinna morphology	79621	RNASEH2B	ORPHA:51
HP:0000377	Abnormal pinna morphology	103	ADAR	ORPHA:51
HP:0000377	Abnormal pinna morphology	11277	TREX1	ORPHA:51
HP:0000377	Abnormal pinna morphology	100147744	RNU7-1	ORPHA:51
HP:0000377	Abnormal pinna morphology	134353	LSM11	ORPHA:51
HP:0000377	Abnormal pinna morphology	64135	IFIH1	ORPHA:51
HP:0000377	Abnormal pinna morphology	10159	ATP6AP2	OMIM:301045
HP:0000377	Abnormal pinna morphology	91949	COG7	OMIM:608779
HP:0000377	Abnormal pinna morphology	10735	STAG2	OMIM:301043
HP:0000377	Abnormal pinna morphology	10735	STAG2	OMIM:301022
HP:0000377	Abnormal pinna morphology	27238	GPKOW	ORPHA:2570
HP:0000377	Abnormal pinna morphology	22856	CHSY1	ORPHA:363417
HP:0000377	Abnormal pinna morphology	1305	COL13A1	OMIM:616720
HP:0000377	Abnormal pinna morphology	1305	COL13A1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	4893	NRAS	OMIM:613224
HP:0000377	Abnormal pinna morphology	83479	DDX59	OMIM:174300
HP:0000377	Abnormal pinna morphology	169792	GLIS3	OMIM:610199
HP:0000377	Abnormal pinna morphology	79644	SRD5A3	OMIM:612379
HP:0000377	Abnormal pinna morphology	7547	ZIC3	OMIM:306955
HP:0000377	Abnormal pinna morphology	57211	ADGRG6	OMIM:616503
HP:0000377	Abnormal pinna morphology	3759	KCNJ2	OMIM:170390
HP:0000377	Abnormal pinna morphology	3759	KCNJ2	ORPHA:37553
HP:0000377	Abnormal pinna morphology	55764	IFT122	OMIM:218330
HP:0000377	Abnormal pinna morphology	10943	MSL3	OMIM:301032
HP:0000377	Abnormal pinna morphology	5745	PTH1R	ORPHA:50945
HP:0000377	Abnormal pinna morphology	8985	PLOD3	OMIM:612394
HP:0000377	Abnormal pinna morphology	91147	TMEM67	ORPHA:1454
HP:0000377	Abnormal pinna morphology	91147	TMEM67	ORPHA:475
HP:0000377	Abnormal pinna morphology	23322	RPGRIP1L	ORPHA:1454
HP:0000377	Abnormal pinna morphology	57545	CC2D2A	ORPHA:1454
HP:0000377	Abnormal pinna morphology	55969	RAB5IF	OMIM:616994
HP:0000377	Abnormal pinna morphology	4758	NEU1	ORPHA:93400
HP:0000377	Abnormal pinna morphology	4758	NEU1	ORPHA:93399
HP:0000377	Abnormal pinna morphology	60	ACTB	OMIM:243310
HP:0000377	Abnormal pinna morphology	55617	TASP1	OMIM:618950
HP:0000377	Abnormal pinna morphology	6182	MRPL12	OMIM:618951
HP:0000377	Abnormal pinna morphology	9702	CEP57	OMIM:614114
HP:0000377	Abnormal pinna morphology	60482	SLC5A7	ORPHA:98914
HP:0000377	Abnormal pinna morphology	4649	MYO9A	ORPHA:98914
HP:0000377	Abnormal pinna morphology	1103	CHAT	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6576	SLC25A1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6843	VAMP1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	375790	AGRN	ORPHA:98914
HP:0000377	Abnormal pinna morphology	127833	SYT2	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6616	SNAP25	ORPHA:98914
HP:0000377	Abnormal pinna morphology	84628	NTNG2	OMIM:618718
HP:0000377	Abnormal pinna morphology	113246	C12orf57	OMIM:218340
HP:0000377	Abnormal pinna morphology	9321	TRIP11	OMIM:200600
HP:0000377	Abnormal pinna morphology	6651	SON	ORPHA:500150
HP:0000377	Abnormal pinna morphology	6651	SON	OMIM:617140
HP:0000377	Abnormal pinna morphology	9786	KIAA0586	OMIM:616546
HP:0000377	Abnormal pinna morphology	9786	KIAA0586	ORPHA:397715
HP:0000377	Abnormal pinna morphology	9786	KIAA0586	ORPHA:475
HP:0000377	Abnormal pinna morphology	1748	DLX4	OMIM:616788
HP:0000377	Abnormal pinna morphology	4000	LMNA	ORPHA:1662
HP:0000377	Abnormal pinna morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000377	Abnormal pinna morphology	10269	ZMPSTE24	OMIM:275210
HP:0000377	Abnormal pinna morphology	84700	MYO18B	OMIM:616549
HP:0000377	Abnormal pinna morphology	1146	CHRNG	ORPHA:2990
HP:0000377	Abnormal pinna morphology	1146	CHRNG	OMIM:265000
HP:0000377	Abnormal pinna morphology	1146	CHRNG	OMIM:253290
HP:0000377	Abnormal pinna morphology	7473	WNT3	OMIM:273395
HP:0000377	Abnormal pinna morphology	79583	TMEM231	ORPHA:2752
HP:0000377	Abnormal pinna morphology	5087	PBX1	OMIM:617641
HP:0000377	Abnormal pinna morphology	529	ATP6V1E1	OMIM:617402
HP:0000377	Abnormal pinna morphology	529	ATP6V1E1	ORPHA:357074
HP:0000377	Abnormal pinna morphology	84148	KAT8	OMIM:618974
HP:0000377	Abnormal pinna morphology	246329	STAC3	OMIM:255995
HP:0000377	Abnormal pinna morphology	3762	KCNJ5	ORPHA:37553
HP:0000377	Abnormal pinna morphology	10617	STAMBP	OMIM:614261
HP:0000377	Abnormal pinna morphology	8367	H4C5	OMIM:619950
HP:0000377	Abnormal pinna morphology	6016	RIT1	OMIM:615355
HP:0000377	Abnormal pinna morphology	10054	UBA2	OMIM:619959
HP:0000377	Abnormal pinna morphology	64220	STRA6	OMIM:601186
HP:0000377	Abnormal pinna morphology	64220	STRA6	ORPHA:2470
HP:0000377	Abnormal pinna morphology	79848	CSPP1	ORPHA:397715
HP:0000377	Abnormal pinna morphology	79848	CSPP1	ORPHA:475
HP:0000377	Abnormal pinna morphology	6536	SLC6A9	OMIM:617301
HP:0000377	Abnormal pinna morphology	1723	DHODH	OMIM:263750
HP:0000377	Abnormal pinna morphology	5830	PEX5	OMIM:202370
HP:0000377	Abnormal pinna morphology	28960	DCPS	OMIM:616459
HP:0000377	Abnormal pinna morphology	23384	SPECC1L	ORPHA:1519
HP:0000377	Abnormal pinna morphology	54	ACP5	OMIM:607944
HP:0000377	Abnormal pinna morphology	10381	TUBB3	ORPHA:300570
HP:0000377	Abnormal pinna morphology	79184	BRCC3	ORPHA:280679
HP:0000377	Abnormal pinna morphology	2626	GATA4	ORPHA:251071
HP:0000377	Abnormal pinna morphology	54968	TMEM70	OMIM:614052
HP:0000377	Abnormal pinna morphology	54968	TMEM70	ORPHA:1194
HP:0000377	Abnormal pinna morphology	22884	WDR37	OMIM:618652
HP:0000377	Abnormal pinna morphology	1656	DDX6	OMIM:618653
HP:0000377	Abnormal pinna morphology	4297	KMT2A	ORPHA:319182
HP:0000377	Abnormal pinna morphology	4297	KMT2A	OMIM:605130
HP:0000377	Abnormal pinna morphology	4174	MCM5	OMIM:617564
HP:0000377	Abnormal pinna morphology	84314	TMEM107	OMIM:617563
HP:0000377	Abnormal pinna morphology	57178	ZMIZ1	OMIM:618659
HP:0000377	Abnormal pinna morphology	55623	THUMPD1	OMIM:619989
HP:0000377	Abnormal pinna morphology	3476	IGBP1	ORPHA:52055
HP:0000377	Abnormal pinna morphology	3476	IGBP1	OMIM:300472
HP:0000377	Abnormal pinna morphology	79600	TCTN1	ORPHA:475
HP:0000377	Abnormal pinna morphology	51684	SUFU	ORPHA:475
HP:0000377	Abnormal pinna morphology	54806	AHI1	ORPHA:475
HP:0000377	Abnormal pinna morphology	54806	AHI1	OMIM:608629
HP:0000377	Abnormal pinna morphology	200894	ARL13B	ORPHA:475
HP:0000377	Abnormal pinna morphology	9731	CEP104	ORPHA:475
HP:0000377	Abnormal pinna morphology	23247	KATNIP	ORPHA:475
HP:0000377	Abnormal pinna morphology	219854	TMEM218	ORPHA:475
HP:0000377	Abnormal pinna morphology	54903	MKS1	ORPHA:475
HP:0000377	Abnormal pinna morphology	54903	MKS1	OMIM:249000
HP:0000377	Abnormal pinna morphology	95681	CEP41	ORPHA:475
HP:0000377	Abnormal pinna morphology	80776	B9D2	ORPHA:475
HP:0000377	Abnormal pinna morphology	10464	PIBF1	ORPHA:475
HP:0000377	Abnormal pinna morphology	80210	ARMC9	ORPHA:475
HP:0000377	Abnormal pinna morphology	25776	CBY1	ORPHA:475
HP:0000377	Abnormal pinna morphology	27077	B9D1	ORPHA:475
HP:0000377	Abnormal pinna morphology	1789	DNMT3B	OMIM:242860
HP:0000377	Abnormal pinna morphology	1789	DNMT3B	ORPHA:2268
HP:0000377	Abnormal pinna morphology	51604	PIGT	OMIM:615398
HP:0000377	Abnormal pinna morphology	51604	PIGT	ORPHA:369837
HP:0000377	Abnormal pinna morphology	7862	BRPF1	OMIM:617333
HP:0000377	Abnormal pinna morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000377	Abnormal pinna morphology	7531	YWHAE	ORPHA:217385
HP:0000377	Abnormal pinna morphology	9841	ZBTB24	OMIM:614069
HP:0000377	Abnormal pinna morphology	9841	ZBTB24	ORPHA:2268
HP:0000377	Abnormal pinna morphology	8364	H4C3	OMIM:619758
HP:0000377	Abnormal pinna morphology	8314	BAP1	OMIM:619762
HP:0000377	Abnormal pinna morphology	51098	IFT52	OMIM:617102
HP:0000377	Abnormal pinna morphology	53335	BCL11A	OMIM:617101
HP:0000377	Abnormal pinna morphology	4849	CNOT3	OMIM:618672
HP:0000377	Abnormal pinna morphology	9928	KIF14	OMIM:616258
HP:0000377	Abnormal pinna morphology	2542	SLC37A4	OMIM:619525
HP:0000377	Abnormal pinna morphology	2683	B4GALT1	ORPHA:79332
HP:0000377	Abnormal pinna morphology	2556	GABRA3	OMIM:301091
HP:0000377	Abnormal pinna morphology	57724	EPG5	OMIM:242840
HP:0000377	Abnormal pinna morphology	23162	MAPK8IP3	OMIM:618443
HP:0000377	Abnormal pinna morphology	55120	FANCL	OMIM:614083
HP:0000377	Abnormal pinna morphology	79989	IFT56	OMIM:619534
HP:0000377	Abnormal pinna morphology	9319	TRIP13	OMIM:617598
HP:0000377	Abnormal pinna morphology	85365	ALG2	OMIM:607906
HP:0000377	Abnormal pinna morphology	57479	PRR12	OMIM:619539
HP:0000377	Abnormal pinna morphology	10516	FBLN5	ORPHA:90348
HP:0000377	Abnormal pinna morphology	1107	CHD3	OMIM:618205
HP:0000377	Abnormal pinna morphology	7476	WNT7A	OMIM:276820
HP:0000377	Abnormal pinna morphology	29929	ALG6	ORPHA:79320
HP:0000377	Abnormal pinna morphology	54361	WNT4	OMIM:611812
HP:0000377	Abnormal pinna morphology	257	ALX3	OMIM:136760
HP:0000377	Abnormal pinna morphology	6261	RYR1	OMIM:619542
HP:0000377	Abnormal pinna morphology	3658	IREB2	OMIM:618451
HP:0000377	Abnormal pinna morphology	29968	PSAT1	OMIM:616038
HP:0000377	Abnormal pinna morphology	55770	EXOC2	OMIM:619306
HP:0000377	Abnormal pinna morphology	6909	TBX2	OMIM:618223
HP:0000377	Abnormal pinna morphology	5631	PRPS1	ORPHA:423479
HP:0000377	Abnormal pinna morphology	5631	PRPS1	OMIM:300661
HP:0000377	Abnormal pinna morphology	79868	ALG13	OMIM:300884
HP:0000377	Abnormal pinna morphology	2710	GK	OMIM:307030
HP:0000377	Abnormal pinna morphology	1725	DHPS	OMIM:618480
HP:0000377	Abnormal pinna morphology	57551	TAOK1	OMIM:619575
HP:0000377	Abnormal pinna morphology	1108	CHD4	OMIM:617159
HP:0000377	Abnormal pinna morphology	1147	CHUK	OMIM:619339
HP:0000377	Abnormal pinna morphology	9509	ADAMTS2	OMIM:225410
HP:0000377	Abnormal pinna morphology	26276	VPS33B	OMIM:208085
HP:0000377	Abnormal pinna morphology	10524	KAT5	OMIM:619103
HP:0000377	Abnormal pinna morphology	3977	LIFR	OMIM:601559
HP:0000377	Abnormal pinna morphology	9244	CRLF1	OMIM:272430
HP:0000377	Abnormal pinna morphology	57003	CCDC47	OMIM:618268
HP:0000377	Abnormal pinna morphology	340419	RSPO2	OMIM:618021
HP:0000377	Abnormal pinna morphology	79005	SCNM1	OMIM:620107
HP:0000377	Abnormal pinna morphology	57465	TBC1D24	ORPHA:79500
HP:0000377	Abnormal pinna morphology	57465	TBC1D24	OMIM:220500
HP:0000377	Abnormal pinna morphology	10653	SPINT2	OMIM:270420
HP:0000377	Abnormal pinna morphology	285590	SH3PXD2B	OMIM:249420
HP:0000377	Abnormal pinna morphology	51715	RAB23	OMIM:201000
HP:0000377	Abnormal pinna morphology	1759	DNM1	OMIM:620352
HP:0000377	Abnormal pinna morphology	2177	FANCD2	OMIM:227646
HP:0000377	Abnormal pinna morphology	5528	PPP2R5D	ORPHA:457279
HP:0000377	Abnormal pinna morphology	1984	EIF5A	OMIM:619376
HP:0000377	Abnormal pinna morphology	2733	GLE1	OMIM:611890
HP:0000377	Abnormal pinna morphology	3295	HSD17B4	OMIM:261515
HP:0000377	Abnormal pinna morphology	129285	PPP1R21	OMIM:619383
HP:0000377	Abnormal pinna morphology	221692	PHACTR1	OMIM:618298
HP:0000377	Abnormal pinna morphology	3480	IGF1R	OMIM:270450
HP:0000377	Abnormal pinna morphology	83483	PLVAP	OMIM:618183
HP:0000377	Abnormal pinna morphology	10128	LRPPRC	OMIM:220111
HP:0000377	Abnormal pinna morphology	9131	AIFM1	OMIM:300232
HP:0000377	Abnormal pinna morphology	8506	CNTNAP1	OMIM:618186
HP:0000377	Abnormal pinna morphology	55503	TRPV6	OMIM:618188
HP:0000377	Abnormal pinna morphology	5894	RAF1	OMIM:611554
HP:0000377	Abnormal pinna morphology	5894	RAF1	OMIM:611553
HP:0000377	Abnormal pinna morphology	775	CACNA1C	OMIM:620029
HP:0000377	Abnormal pinna morphology	8854	ALDH1A2	OMIM:620025
HP:0000377	Abnormal pinna morphology	10274	STAG1	ORPHA:502434
HP:0000377	Abnormal pinna morphology	4774	NFIA	OMIM:613735
HP:0000377	Abnormal pinna morphology	118987	PDZD8	OMIM:620021
HP:0000377	Abnormal pinna morphology	2629	GBA1	OMIM:608013
HP:0000377	Abnormal pinna morphology	23118	TAB2	ORPHA:228410
HP:0000377	Abnormal pinna morphology	58	ACTA1	ORPHA:171433
HP:0000377	Abnormal pinna morphology	58	ACTA1	ORPHA:171430
HP:0000377	Abnormal pinna morphology	10324	KLHL41	ORPHA:171433
HP:0000377	Abnormal pinna morphology	10324	KLHL41	ORPHA:171430
HP:0000377	Abnormal pinna morphology	7170	TPM3	ORPHA:171433
HP:0000377	Abnormal pinna morphology	2317	FLNB	ORPHA:1190
HP:0000377	Abnormal pinna morphology	2317	FLNB	OMIM:108720
HP:0000377	Abnormal pinna morphology	9442	MED27	OMIM:619286
HP:0000377	Abnormal pinna morphology	131377	KLHL40	ORPHA:171430
HP:0000377	Abnormal pinna morphology	56203	LMOD3	ORPHA:171430
HP:0000377	Abnormal pinna morphology	22858	CILK1	OMIM:612651
HP:0000377	Abnormal pinna morphology	56262	LRRC8A	OMIM:613506
HP:0000377	Abnormal pinna morphology	170302	ARX	OMIM:300215
HP:0000377	Abnormal pinna morphology	3899	AFF3	OMIM:619297
HP:0000377	Abnormal pinna morphology	9739	SETD1A	OMIM:619056
HP:0000377	Abnormal pinna morphology	55107	ANO1	OMIM:620045
HP:0000377	Abnormal pinna morphology	4524	MTHFR	ORPHA:563612
HP:0000377	Abnormal pinna morphology	57216	VANGL2	ORPHA:563612
HP:0000377	Abnormal pinna morphology	3070	HELLS	ORPHA:2268
HP:0000377	Abnormal pinna morphology	10352	WARS2	ORPHA:572798
HP:0000377	Abnormal pinna morphology	51021	MRPS16	OMIM:610498
HP:0000377	Abnormal pinna morphology	2752	GLUL	OMIM:610015
HP:0000377	Abnormal pinna morphology	657	BMPR1A	ORPHA:79076
HP:0000377	Abnormal pinna morphology	5193	PEX12	OMIM:614859
HP:0000377	Abnormal pinna morphology	23265	EXOC7	OMIM:619072
HP:0000377	Abnormal pinna morphology	1802	DPH2	OMIM:620062
HP:0000377	Abnormal pinna morphology	5828	PEX2	OMIM:614866
HP:0000377	Abnormal pinna morphology	55165	CEP55	OMIM:236500
HP:0000377	Abnormal pinna morphology	55027	HEATR3	OMIM:620072
HP:0000377	Abnormal pinna morphology	6558	SLC12A2	OMIM:619080
HP:0000377	Abnormal pinna morphology	4089	SMAD4	OMIM:139210
HP:0000377	Abnormal pinna morphology	5192	PEX10	OMIM:614870
HP:0000377	Abnormal pinna morphology	5324	PLAG1	ORPHA:397590
HP:0000377	Abnormal pinna morphology	8091	HMGA2	ORPHA:397590
HP:0000377	Abnormal pinna morphology	5591	PRKDC	OMIM:615966
HP:0000377	Abnormal pinna morphology	471	ATIC	OMIM:608688
HP:0000377	Abnormal pinna morphology	471	ATIC	ORPHA:250977
HP:0000377	Abnormal pinna morphology	668	FOXL2	ORPHA:572333
HP:0000377	Abnormal pinna morphology	10430	TMEM147	OMIM:620075
HP:0000377	Abnormal pinna morphology	3187	HNRNPH1	OMIM:620083
HP:0000377	Abnormal pinna morphology	5915	RARB	ORPHA:2470
HP:0000377	Abnormal pinna morphology	3954	LETM1	OMIM:620089
HP:0000377	Abnormal pinna morphology	9775	EIF4A3	OMIM:268305
HP:0000377	Abnormal pinna morphology	667	DST	OMIM:614653
HP:0000377	Abnormal pinna morphology	2702	GJA5	OMIM:612474
HP:0000377	Abnormal pinna morphology	2703	GJA8	OMIM:612474
HP:0000377	Abnormal pinna morphology	51025	PAM16	OMIM:613320
HP:0000377	Abnormal pinna morphology	27152	INTU	OMIM:617925
HP:0000377	Abnormal pinna morphology	27152	INTU	OMIM:617926
HP:0000377	Abnormal pinna morphology	1144	CHRND	OMIM:253290
HP:0000377	Abnormal pinna morphology	6888	TALDO1	OMIM:606003
HP:0000377	Abnormal pinna morphology	3720	JARID2	OMIM:620098
HP:0000377	Abnormal pinna morphology	9698	PUM1	OMIM:617931
HP:0000377	Abnormal pinna morphology	79631	EFL1	OMIM:617941
HP:0000377	Abnormal pinna morphology	55784	MCTP2	ORPHA:1596
HP:0000377	Abnormal pinna morphology	30008	EFEMP2	OMIM:614437
HP:0000377	Abnormal pinna morphology	51116	MRPS2	OMIM:617950
HP:0000377	Abnormal pinna morphology	10265	IRX5	OMIM:611174
HP:0000377	Abnormal pinna morphology	5925	RB1	ORPHA:1587
HP:0000377	Abnormal pinna morphology	23511	NUP188	OMIM:618804
HP:0000377	Abnormal pinna morphology	7874	USP7	OMIM:616863
HP:0000377	Abnormal pinna morphology	1063	CENPF	OMIM:243605
HP:0000377	Abnormal pinna morphology	54551	MAGEL2	OMIM:615547
HP:0000377	Abnormal pinna morphology	57572	DOCK6	OMIM:614219
HP:0000377	Abnormal pinna morphology	29980	DONSON	OMIM:251230
HP:0000377	Abnormal pinna morphology	4659	PPP1R12A	OMIM:618820
HP:0000377	Abnormal pinna morphology	490	ATP2B1	OMIM:619910
HP:0000377	Abnormal pinna morphology	54676	GTPBP2	OMIM:617988
HP:0000377	Abnormal pinna morphology	100506658	OCLN	OMIM:251290
HP:0000377	Abnormal pinna morphology	5718	PSMD12	OMIM:617516
HP:0000377	Abnormal pinna morphology	4848	CNOT2	OMIM:618608
HP:0000377	Abnormal pinna morphology	9469	CHST3	OMIM:245600
HP:0000377	Abnormal pinna morphology	26229	B3GAT3	OMIM:245600
HP:0000377	Abnormal pinna morphology	5307	PITX1	OMIM:119800
HP:0000377	Abnormal pinna morphology	55331	ACER3	OMIM:617762
HP:0000377	Abnormal pinna morphology	92935	MARS2	OMIM:616430
HP:0000377	Abnormal pinna morphology	58499	ZNF462	OMIM:618619
HP:0000377	Abnormal pinna morphology	11160	ERLIN2	ORPHA:280384
HP:0000377	Abnormal pinna morphology	11160	ERLIN2	ORPHA:209951
HP:0000377	Abnormal pinna morphology	123606	NIPA1	ORPHA:261183
HP:0000377	Abnormal pinna morphology	7283	TUBG1	ORPHA:261183
HP:0000377	Abnormal pinna morphology	81614	NIPA2	ORPHA:261183
HP:0000377	Abnormal pinna morphology	51621	KLF13	OMIM:612001
HP:0000377	Abnormal pinna morphology	10765	KDM5B	OMIM:618109
HP:0000377	Abnormal pinna morphology	271	AMPD2	OMIM:615809
HP:0000377	Abnormal pinna morphology	8289	ARID1A	OMIM:614607
HP:0000377	Abnormal pinna morphology	5351	PLOD1	ORPHA:1900
HP:0000377	Abnormal pinna morphology	79087	ALG12	OMIM:607143
HP:0000377	Abnormal pinna morphology	79087	ALG12	ORPHA:79324
HP:0000377	Abnormal pinna morphology	6045	RNF2	OMIM:619460
HP:0000377	Abnormal pinna morphology	23347	SMCHD1	OMIM:603457
HP:0000377	Abnormal pinna morphology	9758	FRMPD4	OMIM:300983
HP:0000377	Abnormal pinna morphology	79813	EHMT1	OMIM:610253
HP:0000377	Abnormal pinna morphology	53834	FGFRL1	OMIM:194190
HP:0000377	Abnormal pinna morphology	71	ACTG1	OMIM:614583
HP:0000377	Abnormal pinna morphology	30813	VSX1	OMIM:614195
HP:0000377	Abnormal pinna morphology	4222	MEOX1	OMIM:214300
HP:0000377	Abnormal pinna morphology	1749	DLX5	OMIM:183600
HP:0000377	Abnormal pinna morphology	23065	EMC1	ORPHA:480898
HP:0000377	Abnormal pinna morphology	23299	BICD2	OMIM:618291
HP:0000377	Abnormal pinna morphology	7466	WFS1	ORPHA:411590
HP:0000377	Abnormal pinna morphology	2108	ETFA	OMIM:231680
HP:0000377	Abnormal pinna morphology	2109	ETFB	OMIM:231680
HP:0000377	Abnormal pinna morphology	2110	ETFDH	OMIM:231680
HP:0000377	Abnormal pinna morphology	134218	DNAJC21	OMIM:617052
HP:0000377	Abnormal pinna morphology	6711	SPTBN1	OMIM:619475
HP:0000377	Abnormal pinna morphology	9780	PIEZO1	OMIM:616843
HP:0000377	Abnormal pinna morphology	23291	FBXW11	OMIM:618914
HP:0000377	Abnormal pinna morphology	79971	WLS	OMIM:619648
HP:0000377	Abnormal pinna morphology	84720	PIGO	ORPHA:247262
HP:0000377	Abnormal pinna morphology	284098	PIGW	ORPHA:247262
HP:0000377	Abnormal pinna morphology	27315	PGAP2	ORPHA:247262
HP:0000377	Abnormal pinna morphology	9487	PIGL	ORPHA:247262
HP:0000377	Abnormal pinna morphology	1663	DDX11	OMIM:613398
HP:0000377	Abnormal pinna morphology	5455	POU3F3	OMIM:618604
HP:0000377	Abnormal pinna morphology	5792	PTPRF	OMIM:616001
HP:0000377	Abnormal pinna morphology	51099	ABHD5	ORPHA:98907
HP:0000377	Abnormal pinna morphology	55343	SLC35C1	ORPHA:99843
HP:0000377	Abnormal pinna morphology	1281	COL3A1	OMIM:130050
HP:0000377	Abnormal pinna morphology	55628	ZNF407	OMIM:619557
HP:0000377	Abnormal pinna morphology	9719	ADAMTSL2	OMIM:231050
HP:0000377	Abnormal pinna morphology	1289	COL5A1	OMIM:130000
HP:0000377	Abnormal pinna morphology	23431	AP4E1	OMIM:613744
HP:0000377	Abnormal pinna morphology	9230	RAB11B	OMIM:617807
HP:0000377	Abnormal pinna morphology	9949	AMMECR1	OMIM:300990
HP:0000377	Abnormal pinna morphology	10771	ZMYND11	OMIM:616083
HP:0000377	Abnormal pinna morphology	727857	BHLHA9	ORPHA:3329
HP:0000377	Abnormal pinna morphology	738	VPS51	OMIM:618606
HP:0000377	Abnormal pinna morphology	93986	FOXP2	ORPHA:209908
HP:0000377	Abnormal pinna morphology	5277	PIGA	OMIM:300868
HP:0000377	Abnormal pinna morphology	7043	TGFB3	OMIM:615582
HP:0000377	Abnormal pinna morphology	11113	CIT	OMIM:617090
HP:0000377	Abnormal pinna morphology	11253	MAN1B1	ORPHA:397941
HP:0000377	Abnormal pinna morphology	11253	MAN1B1	OMIM:614202
HP:0000377	Abnormal pinna morphology	27316	RBMX	OMIM:300238
HP:0000377	Abnormal pinna morphology	340533	NEXMIF	OMIM:300912
HP:0000377	Abnormal pinna morphology	1139	CHRNA7	ORPHA:199318
HP:0000377	Abnormal pinna morphology	23135	KDM6B	OMIM:618505
HP:0000377	Abnormal pinna morphology	1161	ERCC8	ORPHA:90324
HP:0000377	Abnormal pinna morphology	1161	ERCC8	ORPHA:90321
HP:0000377	Abnormal pinna morphology	1161	ERCC8	ORPHA:90322
HP:0000377	Abnormal pinna morphology	2074	ERCC6	ORPHA:90324
HP:0000377	Abnormal pinna morphology	2074	ERCC6	ORPHA:90321
HP:0000377	Abnormal pinna morphology	2074	ERCC6	ORPHA:90322
HP:0000377	Abnormal pinna morphology	781	CACNA2D1	OMIM:620149
HP:0000377	Abnormal pinna morphology	91801	ALKBH8	OMIM:618504
HP:0000377	Abnormal pinna morphology	84942	WDR73	OMIM:251300
HP:0000377	Abnormal pinna morphology	84942	WDR73	ORPHA:2065
HP:0000377	Abnormal pinna morphology	1134	CHRNA1	OMIM:608930
HP:0000377	Abnormal pinna morphology	4047	LSS	ORPHA:2850
HP:0000377	Abnormal pinna morphology	197	AHSG	ORPHA:2850
HP:0000377	Abnormal pinna morphology	3694	ITGB6	ORPHA:2850
HP:0000377	Abnormal pinna morphology	2072	ERCC4	ORPHA:90321
HP:0000377	Abnormal pinna morphology	10084	PQBP1	ORPHA:93950
HP:0000377	Abnormal pinna morphology	10084	PQBP1	ORPHA:93945
HP:0000377	Abnormal pinna morphology	10084	PQBP1	OMIM:309500
HP:0000377	Abnormal pinna morphology	4983	OPHN1	OMIM:300486
HP:0000377	Abnormal pinna morphology	10479	SLC9A6	OMIM:300243
HP:0000377	Abnormal pinna morphology	10479	SLC9A6	ORPHA:85278
HP:0000377	Abnormal pinna morphology	10300	KATNB1	OMIM:616212
HP:0000377	Abnormal pinna morphology	7552	ZNF711	OMIM:300803
HP:0000377	Abnormal pinna morphology	10730	YME1L1	OMIM:617302
HP:0000377	Abnormal pinna morphology	55690	PACS1	OMIM:615009
HP:0000377	Abnormal pinna morphology	55690	PACS1	ORPHA:329224
HP:0000377	Abnormal pinna morphology	80055	PGAP1	OMIM:615802
HP:0000377	Abnormal pinna morphology	84520	GON7	OMIM:619603
HP:0000377	Abnormal pinna morphology	5818	NECTIN1	ORPHA:3253
HP:0000377	Abnormal pinna morphology	6023	RMRP	ORPHA:175
HP:0000377	Abnormal pinna morphology	51360	MBTPS2	ORPHA:2273
HP:0000377	Abnormal pinna morphology	284058	KANSL1	ORPHA:363958
HP:0000377	Abnormal pinna morphology	284058	KANSL1	ORPHA:363965
HP:0000377	Abnormal pinna morphology	284058	KANSL1	OMIM:610443
HP:0000377	Abnormal pinna morphology	25885	POLR1A	OMIM:616462
HP:0000377	Abnormal pinna morphology	29940	DSE	ORPHA:2953
HP:0000377	Abnormal pinna morphology	9326	ZNHIT3	ORPHA:2836
HP:0000377	Abnormal pinna morphology	547	KIF1A	ORPHA:2836
HP:0000377	Abnormal pinna morphology	114034	TOE1	OMIM:614969
HP:0000377	Abnormal pinna morphology	114034	TOE1	ORPHA:284339
HP:0000377	Abnormal pinna morphology	83550	GPR101	ORPHA:963
HP:0000377	Abnormal pinna morphology	9049	AIP	ORPHA:963
HP:0000377	Abnormal pinna morphology	10555	AGPAT2	OMIM:608594
HP:0000377	Abnormal pinna morphology	23096	IQSEC2	ORPHA:397933
HP:0000377	Abnormal pinna morphology	8726	EED	OMIM:617561
HP:0000377	Abnormal pinna morphology	8726	EED	ORPHA:3447
HP:0000377	Abnormal pinna morphology	1193	CLIC2	ORPHA:324410
HP:0000377	Abnormal pinna morphology	1193	CLIC2	OMIM:300886
HP:0000377	Abnormal pinna morphology	55714	TENM3	OMIM:615145
HP:0000377	Abnormal pinna morphology	2783	GNB2	OMIM:619503
HP:0000377	Abnormal pinna morphology	25942	SIN3A	OMIM:613406
HP:0000377	Abnormal pinna morphology	165	AEBP1	ORPHA:536532
HP:0000377	Abnormal pinna morphology	165	AEBP1	OMIM:618000
HP:0000377	Abnormal pinna morphology	5373	PMM2	OMIM:212065
HP:0000377	Abnormal pinna morphology	5373	PMM2	ORPHA:79318
HP:0000377	Abnormal pinna morphology	26227	PHGDH	OMIM:256520
HP:0000377	Abnormal pinna morphology	388662	SLC6A17	ORPHA:457212
HP:0000377	Abnormal pinna morphology	388662	SLC6A17	OMIM:616269
HP:0000377	Abnormal pinna morphology	55773	TBC1D23	OMIM:617695
HP:0000377	Abnormal pinna morphology	5063	PAK3	OMIM:300558
HP:0000377	Abnormal pinna morphology	8905	AP1S2	ORPHA:85335
HP:0000377	Abnormal pinna morphology	6804	STX1A	ORPHA:904
HP:0000377	Abnormal pinna morphology	7461	CLIP2	ORPHA:904
HP:0000377	Abnormal pinna morphology	84277	DNAJC30	ORPHA:904
HP:0000377	Abnormal pinna morphology	8468	FKBP6	ORPHA:904
HP:0000377	Abnormal pinna morphology	5982	RFC2	ORPHA:904
HP:0000377	Abnormal pinna morphology	2969	GTF2I	ORPHA:904
HP:0000377	Abnormal pinna morphology	3984	LIMK1	ORPHA:904
HP:0000377	Abnormal pinna morphology	9569	GTF2IRD1	ORPHA:904
HP:0000377	Abnormal pinna morphology	155382	VPS37D	ORPHA:904
HP:0000377	Abnormal pinna morphology	155368	METTL27	ORPHA:904
HP:0000377	Abnormal pinna morphology	114049	BUD23	ORPHA:904
HP:0000377	Abnormal pinna morphology	7458	EIF4H	ORPHA:904
HP:0000377	Abnormal pinna morphology	84163	GTF2IRD2	ORPHA:904
HP:0000377	Abnormal pinna morphology	9275	BCL7B	ORPHA:904
HP:0000377	Abnormal pinna morphology	26608	TBL2	ORPHA:904
HP:0000377	Abnormal pinna morphology	653361	NCF1	ORPHA:904
HP:0000377	Abnormal pinna morphology	135886	TMEM270	ORPHA:904
HP:0000377	Abnormal pinna morphology	9031	BAZ1B	ORPHA:904
HP:0000377	Abnormal pinna morphology	116115	ZNF526	OMIM:619877
HP:0000377	Abnormal pinna morphology	5728	PTEN	ORPHA:109
HP:0000377	Abnormal pinna morphology	5728	PTEN	ORPHA:744
HP:0000377	Abnormal pinna morphology	81031	SLC2A10	ORPHA:3342
HP:0000377	Abnormal pinna morphology	81031	SLC2A10	OMIM:208050
HP:0000377	Abnormal pinna morphology	6134	RPL10	ORPHA:459070
HP:0000377	Abnormal pinna morphology	23345	SYNE1	ORPHA:319332
HP:0000377	Abnormal pinna morphology	3675	ITGA3	OMIM:614748
HP:0000377	Abnormal pinna morphology	5727	PTCH1	OMIM:610828
HP:0000377	Abnormal pinna morphology	2736	GLI2	OMIM:610829
HP:0000377	Abnormal pinna morphology	79759	ZNF668	OMIM:620194
HP:0000377	Abnormal pinna morphology	26137	ZBTB20	OMIM:259050
HP:0000377	Abnormal pinna morphology	26137	ZBTB20	ORPHA:3042
HP:0000377	Abnormal pinna morphology	9158	FIBP	OMIM:617107
HP:0000377	Abnormal pinna morphology	9158	FIBP	ORPHA:500095
HP:0000377	Abnormal pinna morphology	182	JAG1	OMIM:118450
HP:0000377	Abnormal pinna morphology	6901	TAFAZZIN	OMIM:302060
HP:0000377	Abnormal pinna morphology	5832	ALDH18A1	OMIM:219150
HP:0000377	Abnormal pinna morphology	84919	PPP1R15B	OMIM:616817
HP:0000377	Abnormal pinna morphology	84919	PPP1R15B	ORPHA:391408
HP:0000377	Abnormal pinna morphology	5295	PIK3R1	OMIM:269880
HP:0000377	Abnormal pinna morphology	8573	CASK	ORPHA:163937
HP:0000377	Abnormal pinna morphology	8573	CASK	OMIM:300749
HP:0000377	Abnormal pinna morphology	8242	KDM5C	OMIM:300534
HP:0000377	Abnormal pinna morphology	23007	PLCH1	OMIM:619895
HP:0000377	Abnormal pinna morphology	254065	BRWD3	OMIM:300659
HP:0000377	Abnormal pinna morphology	2146	EZH2	OMIM:277590
HP:0000377	Abnormal pinna morphology	2146	EZH2	ORPHA:3447
HP:0000377	Abnormal pinna morphology	50945	TBX22	ORPHA:921
HP:0000377	Abnormal pinna morphology	50945	TBX22	OMIM:302905
HP:0000377	Abnormal pinna morphology	23512	SUZ12	ORPHA:3447
HP:0000377	Abnormal pinna morphology	10195	ALG3	OMIM:601110
HP:0000377	Abnormal pinna morphology	7546	ZIC2	OMIM:609637
HP:0000377	Abnormal pinna morphology	58497	PRUNE1	OMIM:617481
HP:0000377	Abnormal pinna morphology	84188	FAR1	OMIM:616154
HP:0000377	Abnormal pinna morphology	84188	FAR1	ORPHA:438178
HP:0000377	Abnormal pinna morphology	7227	TRPS1	OMIM:190350
HP:0000377	Abnormal pinna morphology	7227	TRPS1	ORPHA:77258
HP:0000377	Abnormal pinna morphology	1642	DDB1	OMIM:619426
HP:0000377	Abnormal pinna morphology	7319	UBE2A	ORPHA:163956
HP:0000377	Abnormal pinna morphology	8260	NAA10	ORPHA:276432
HP:0000377	Abnormal pinna morphology	8260	NAA10	OMIM:300855
HP:0000377	Abnormal pinna morphology	9759	HDAC4	OMIM:619797
HP:0000377	Abnormal pinna morphology	56896	DPYSL5	OMIM:619435
HP:0000377	Abnormal pinna morphology	4683	NBN	OMIM:251260
HP:0000377	Abnormal pinna morphology	4683	NBN	ORPHA:647
HP:0000377	Abnormal pinna morphology	85358	SHANK3	OMIM:606232
HP:0000377	Abnormal pinna morphology	85358	SHANK3	ORPHA:48652
HP:0000377	Abnormal pinna morphology	57520	HECW2	OMIM:617268
HP:0000377	Abnormal pinna morphology	113179	ADAT3	ORPHA:363528
HP:0000377	Abnormal pinna morphology	9342	SNAP29	ORPHA:66631
HP:0000377	Abnormal pinna morphology	4953	ODC1	ORPHA:544488
HP:0000377	Abnormal pinna morphology	1363	CPE	OMIM:619326
HP:0000377	Abnormal pinna morphology	26128	KIFBP	ORPHA:66629
HP:0000377	Abnormal pinna morphology	54820	NDE1	OMIM:605013
HP:0000377	Abnormal pinna morphology	2720	GLB1	ORPHA:79255
HP:0000377	Abnormal pinna morphology	3417	IDH1	ORPHA:99646
HP:0000377	Abnormal pinna morphology	6904	TBCD	ORPHA:496641
HP:0000377	Abnormal pinna morphology	4810	NHS	OMIM:302350
HP:0000377	Abnormal pinna morphology	4204	MECP2	OMIM:300055
HP:0000377	Abnormal pinna morphology	4204	MECP2	OMIM:300260
HP:0000377	Abnormal pinna morphology	23221	RHOBTB2	OMIM:618004
HP:0000377	Abnormal pinna morphology	2332	FMR1	ORPHA:449291
HP:0000377	Abnormal pinna morphology	2332	FMR1	OMIM:300624
HP:0000377	Abnormal pinna morphology	24140	FTSJ1	OMIM:309549
HP:0000377	Abnormal pinna morphology	4125	MAN2B1	OMIM:248500
HP:0000377	Abnormal pinna morphology	92255	LMBRD2	OMIM:619694
HP:0000377	Abnormal pinna morphology	8831	SYNGAP1	ORPHA:544254
HP:0000377	Abnormal pinna morphology	3643	INSR	OMIM:246200
HP:0000377	Abnormal pinna morphology	3643	INSR	ORPHA:769
HP:0000377	Abnormal pinna morphology	5604	MAP2K1	ORPHA:1340
HP:0000377	Abnormal pinna morphology	5605	MAP2K2	ORPHA:1340
HP:0000377	Abnormal pinna morphology	259232	NALCN	OMIM:615419
HP:0000377	Abnormal pinna morphology	23389	MED13L	ORPHA:369891
HP:0000377	Abnormal pinna morphology	23389	MED13L	OMIM:616789
HP:0000377	Abnormal pinna morphology	6821	SUOX	OMIM:272300
HP:0000377	Abnormal pinna morphology	23258	DENND5A	OMIM:617281
HP:0000377	Abnormal pinna morphology	2068	ERCC2	OMIM:601675
HP:0000377	Abnormal pinna morphology	80185	TTI2	OMIM:615541
HP:0000377	Abnormal pinna morphology	80185	TTI2	ORPHA:391307
HP:0000377	Abnormal pinna morphology	3758	KCNJ1	OMIM:241200
HP:0000377	Abnormal pinna morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000377	Abnormal pinna morphology	57187	THOC2	ORPHA:457240
HP:0000377	Abnormal pinna morphology	760	CA2	ORPHA:2785
HP:0000377	Abnormal pinna morphology	23476	BRD4	ORPHA:199
HP:0000377	Abnormal pinna morphology	25836	NIPBL	ORPHA:199
HP:0000377	Abnormal pinna morphology	55869	HDAC8	ORPHA:199
HP:0000377	Abnormal pinna morphology	5885	RAD21	ORPHA:199
HP:0000377	Abnormal pinna morphology	9791	PTDSS1	OMIM:151050
HP:0000377	Abnormal pinna morphology	9791	PTDSS1	ORPHA:2658
HP:0000377	Abnormal pinna morphology	8943	AP3D1	OMIM:617050
HP:0000377	Abnormal pinna morphology	2892	GRIA3	ORPHA:364028
HP:0000377	Abnormal pinna morphology	348180	CTU2	OMIM:618142
HP:0000377	Abnormal pinna morphology	26580	BSCL2	OMIM:269700
HP:0000377	Abnormal pinna morphology	1859	DYRK1A	OMIM:614104
HP:0000377	Abnormal pinna morphology	1861	TOR1A	OMIM:618947
HP:0000377	Abnormal pinna morphology	22931	RAB18	OMIM:614222
HP:0000377	Abnormal pinna morphology	22931	RAB18	ORPHA:2510
HP:0000377	Abnormal pinna morphology	10283	CWC27	OMIM:250410
HP:0000377	Abnormal pinna morphology	10283	CWC27	ORPHA:166035
HP:0000377	Abnormal pinna morphology	6513	SLC2A1	ORPHA:168577
HP:0000377	Abnormal pinna morphology	207	AKT1	ORPHA:744
HP:0000377	Abnormal pinna morphology	136647	MPLKIP	OMIM:234050
HP:0000377	Abnormal pinna morphology	7204	TRIO	OMIM:617061
HP:0000377	Abnormal pinna morphology	6872	TAF1	OMIM:300966
HP:0000377	Abnormal pinna morphology	54870	QRICH1	OMIM:617982
HP:0000377	Abnormal pinna morphology	2893	GRIA4	OMIM:617864
HP:0000377	Abnormal pinna morphology	93587	TRMT10A	ORPHA:391408
HP:0000377	Abnormal pinna morphology	6748	SSR4	ORPHA:370927
HP:0000377	Abnormal pinna morphology	6748	SSR4	OMIM:300934
HP:0000377	Abnormal pinna morphology	4256	MGP	OMIM:245150
HP:0000377	Abnormal pinna morphology	153241	CEP120	OMIM:616300
HP:0000377	Abnormal pinna morphology	440	ASNS	OMIM:615574
HP:0000377	Abnormal pinna morphology	55733	HHAT	ORPHA:1422
HP:0000377	Abnormal pinna morphology	11043	MID2	OMIM:300928
HP:0000377	Abnormal pinna morphology	4693	NDP	ORPHA:649
HP:0000377	Abnormal pinna morphology	128637	TBC1D20	ORPHA:2510
HP:0000377	Abnormal pinna morphology	9562	MINPP1	ORPHA:284339
HP:0000377	Abnormal pinna morphology	55553	SOX6	OMIM:618971
HP:0000377	Abnormal pinna morphology	51109	RDH11	ORPHA:436245
HP:0000377	Abnormal pinna morphology	523	ATP6V1A	OMIM:617403
HP:0000377	Abnormal pinna morphology	55644	OSGEP	ORPHA:2065
HP:0000377	Abnormal pinna morphology	57122	NUP107	ORPHA:2065
HP:0000377	Abnormal pinna morphology	55746	NUP133	ORPHA:2065
HP:0000377	Abnormal pinna morphology	112858	TP53RK	ORPHA:2065
HP:0000377	Abnormal pinna morphology	8270	LAGE3	ORPHA:2065
HP:0000377	Abnormal pinna morphology	27445	PCLO	OMIM:608027
HP:0000377	Abnormal pinna morphology	5696	PSMB8	OMIM:256040
HP:0000377	Abnormal pinna morphology	25974	MMACHC	OMIM:277400
HP:0000377	Abnormal pinna morphology	5052	PRDX1	OMIM:277400
HP:0000377	Abnormal pinna morphology	9990	SLC12A6	OMIM:218000
HP:0000377	Abnormal pinna morphology	26235	FBXL4	OMIM:615471
HP:0000377	Abnormal pinna morphology	9820	CUL7	ORPHA:2616
HP:0000377	Abnormal pinna morphology	23363	OBSL1	ORPHA:2616
HP:0000377	Abnormal pinna morphology	23363	OBSL1	OMIM:612921
HP:0000377	Abnormal pinna morphology	83987	CCDC8	ORPHA:2616
HP:0000377	Abnormal pinna morphology	83987	CCDC8	OMIM:614205
HP:0000377	Abnormal pinna morphology	283120	H19	ORPHA:231140
HP:0000377	Abnormal pinna morphology	4038	LRP4	ORPHA:3258
HP:0000377	Abnormal pinna morphology	324	APC	ORPHA:3258
HP:0000377	Abnormal pinna morphology	6197	RPS6KA3	OMIM:303600
HP:0000377	Abnormal pinna morphology	6197	RPS6KA3	ORPHA:192
HP:0000377	Abnormal pinna morphology	3340	NDST1	OMIM:616116
HP:0000377	Abnormal pinna morphology	649	BMP1	OMIM:614856
HP:0000377	Abnormal pinna morphology	7809	BSND	ORPHA:89938
HP:0000377	Abnormal pinna morphology	1188	CLCNKB	ORPHA:89938
HP:0000377	Abnormal pinna morphology	1187	CLCNKA	ORPHA:89938
HP:0000377	Abnormal pinna morphology	55621	TRMT1	OMIM:618302
HP:0000377	Abnormal pinna morphology	80067	DCAF17	ORPHA:3464
HP:0000377	Abnormal pinna morphology	80067	DCAF17	OMIM:241080
HP:0000377	Abnormal pinna morphology	10907	TXNL4A	OMIM:608572
HP:0000377	Abnormal pinna morphology	163175	LGI4	OMIM:617468
HP:0000377	Abnormal pinna morphology	641	BLM	OMIM:210900
HP:0000377	Abnormal pinna morphology	200424	TET3	OMIM:618798
HP:0000377	Abnormal pinna morphology	833	CARS1	ORPHA:33364
HP:0000377	Abnormal pinna morphology	7737	RNF113A	ORPHA:33364
HP:0000377	Abnormal pinna morphology	6897	TARS1	ORPHA:33364
HP:0000377	Abnormal pinna morphology	2071	ERCC3	ORPHA:33364
HP:0000377	Abnormal pinna morphology	2961	GTF2E2	ORPHA:33364
HP:0000377	Abnormal pinna morphology	274	BIN1	ORPHA:169186
HP:0000377	Abnormal pinna morphology	10290	SPEG	ORPHA:169186
HP:0000377	Abnormal pinna morphology	7273	TTN	ORPHA:169186
HP:0000377	Abnormal pinna morphology	1291	COL6A1	OMIM:254090
HP:0000377	Abnormal pinna morphology	1292	COL6A2	OMIM:254090
HP:0000377	Abnormal pinna morphology	1293	COL6A3	OMIM:254090
HP:0000377	Abnormal pinna morphology	16	AARS1	OMIM:619691
HP:0000377	Abnormal pinna morphology	9496	TBX4	ORPHA:261279
HP:0000377	Abnormal pinna morphology	79576	NKAP	OMIM:301039
HP:0000377	Abnormal pinna morphology	51305	KCNK9	ORPHA:166108
HP:0000377	Abnormal pinna morphology	2707	GJB3	ORPHA:317
HP:0000377	Abnormal pinna morphology	2531	KDSR	ORPHA:317
HP:0000377	Abnormal pinna morphology	127534	GJB4	ORPHA:317
HP:0000377	Abnormal pinna morphology	1213	CLTC	OMIM:617854
HP:0000377	Abnormal pinna morphology	5293	PIK3CD	ORPHA:221139
HP:0000377	Abnormal pinna morphology	90417	KNSTRN	ORPHA:221139
HP:0000377	Abnormal pinna morphology	90416	CCDC32	OMIM:619123
HP:0000377	Abnormal pinna morphology	3832	KIF11	ORPHA:2526
HP:0000377	Abnormal pinna morphology	3832	KIF11	OMIM:152950
HP:0000377	Abnormal pinna morphology	23529	CLCF1	OMIM:610313
HP:0000377	Abnormal pinna morphology	1804	DPP6	ORPHA:2514
HP:0000377	Abnormal pinna morphology	4001	LMNB1	ORPHA:2514
HP:0000377	Abnormal pinna morphology	85378	TUBGCP6	ORPHA:2518
HP:0000377	Abnormal pinna morphology	27229	TUBGCP4	ORPHA:2518
HP:0000377	Abnormal pinna morphology	4750	NEK1	ORPHA:2751
HP:0000377	Abnormal pinna morphology	57647	DHX37	OMIM:618731
HP:0000377	Abnormal pinna morphology	57728	WDR19	OMIM:614378
HP:0000377	Abnormal pinna morphology	10844	TUBGCP2	OMIM:618737
HP:0000377	Abnormal pinna morphology	79796	ALG9	ORPHA:79328
HP:0000377	Abnormal pinna morphology	79796	ALG9	OMIM:263210
HP:0000377	Abnormal pinna morphology	79718	TBL1XR1	OMIM:602342
HP:0000377	Abnormal pinna morphology	23556	PIGN	OMIM:614080
HP:0000377	Abnormal pinna morphology	23556	PIGN	ORPHA:280633
HP:0000377	Abnormal pinna morphology	4677	NARS1	OMIM:619092
HP:0000377	Abnormal pinna morphology	30000	TNPO2	OMIM:619556
HP:0000377	Abnormal pinna morphology	83696	TRAPPC9	ORPHA:352530
HP:0000377	Abnormal pinna morphology	202018	TAPT1	OMIM:616897
HP:0000377	Abnormal pinna morphology	10584	COLEC10	ORPHA:293843
HP:0000377	Abnormal pinna morphology	5648	MASP1	ORPHA:293843
HP:0000377	Abnormal pinna morphology	78989	COLEC11	ORPHA:293843
HP:0000377	Abnormal pinna morphology	526	ATP6V1B2	ORPHA:3473
HP:0000377	Abnormal pinna morphology	3756	KCNH1	ORPHA:3473
HP:0000377	Abnormal pinna morphology	3782	KCNN3	ORPHA:3473
HP:0000377	Abnormal pinna morphology	6299	SALL1	OMIM:107480
HP:0000377	Abnormal pinna morphology	5167	ENPP1	ORPHA:51608
HP:0000377	Abnormal pinna morphology	368	ABCC6	ORPHA:51608
HP:0000377	Abnormal pinna morphology	2719	GPC3	OMIM:312870
HP:0000377	Abnormal pinna morphology	2239	GPC4	OMIM:312870
HP:0000377	Abnormal pinna morphology	1028	CDKN1C	OMIM:130650
HP:0000377	Abnormal pinna morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000377	Abnormal pinna morphology	3481	IGF2	OMIM:130650
HP:0000377	Abnormal pinna morphology	3784	KCNQ1	OMIM:130650
HP:0000377	Abnormal pinna morphology	1371	CPOX	ORPHA:79273
HP:0000377	Abnormal pinna morphology	5339	PLEC	ORPHA:158684
HP:0000377	Abnormal pinna morphology	5339	PLEC	OMIM:612138
HP:0000377	Abnormal pinna morphology	3691	ITGB4	ORPHA:158684
HP:0000377	Abnormal pinna morphology	57589	RIC1	OMIM:618761
HP:0000377	Abnormal pinna morphology	3190	HNRNPK	OMIM:616580
HP:0000377	Abnormal pinna morphology	815	CAMK2A	OMIM:617798
HP:0000377	Abnormal pinna morphology	51199	NIN	OMIM:614851
HP:0000377	Abnormal pinna morphology	51199	NIN	ORPHA:319675
HP:0000377	Abnormal pinna morphology	8642	DCHS1	OMIM:601390
HP:0000377	Abnormal pinna morphology	8642	DCHS1	ORPHA:314679
HP:0000377	Abnormal pinna morphology	175	AGA	ORPHA:93
HP:0000377	Abnormal pinna morphology	55719	SLF2	OMIM:620184
HP:0000377	Abnormal pinna morphology	81887	LAS1L	ORPHA:3459
HP:0000377	Abnormal pinna morphology	5422	POLA1	ORPHA:163976
HP:0000377	Abnormal pinna morphology	5422	POLA1	OMIM:301030
HP:0000377	Abnormal pinna morphology	6949	TCOF1	OMIM:154500
HP:0000377	Abnormal pinna morphology	6949	TCOF1	ORPHA:861
HP:0000377	Abnormal pinna morphology	4488	MSX2	OMIM:168550
HP:0000377	Abnormal pinna morphology	9533	POLR1C	OMIM:248390
HP:0000377	Abnormal pinna morphology	9533	POLR1C	ORPHA:861
HP:0000377	Abnormal pinna morphology	3313	HSPA9	OMIM:616854
HP:0000377	Abnormal pinna morphology	3097	HIVEP2	OMIM:616977
HP:0000377	Abnormal pinna morphology	3209	HOXA13	ORPHA:2438
HP:0000377	Abnormal pinna morphology	2186	BPTF	ORPHA:529962
HP:0000377	Abnormal pinna morphology	84172	POLR1B	ORPHA:861
HP:0000377	Abnormal pinna morphology	5058	PAK1	OMIM:618158
HP:0000377	Abnormal pinna morphology	3655	ITGA6	OMIM:619817
HP:0000377	Abnormal pinna morphology	7388	UQCRH	OMIM:620137
HP:0000377	Abnormal pinna morphology	57167	SALL4	ORPHA:233
HP:0000377	Abnormal pinna morphology	9935	MAFB	ORPHA:233
HP:0000377	Abnormal pinna morphology	1123	CHN1	ORPHA:233
HP:0000377	Abnormal pinna morphology	1491	CTH	ORPHA:212
HP:0000377	Abnormal pinna morphology	286	ANK1	ORPHA:251066
HP:0000377	Abnormal pinna morphology	672	BRCA1	ORPHA:84
HP:0000377	Abnormal pinna morphology	10459	MAD2L2	ORPHA:84
HP:0000377	Abnormal pinna morphology	7516	XRCC2	ORPHA:84
HP:0000377	Abnormal pinna morphology	29089	UBE2T	ORPHA:84
HP:0000377	Abnormal pinna morphology	675	BRCA2	ORPHA:84
HP:0000377	Abnormal pinna morphology	2175	FANCA	ORPHA:84
HP:0000377	Abnormal pinna morphology	2176	FANCC	ORPHA:84
HP:0000377	Abnormal pinna morphology	2178	FANCE	ORPHA:84
HP:0000377	Abnormal pinna morphology	2188	FANCF	ORPHA:84
HP:0000377	Abnormal pinna morphology	2189	FANCG	ORPHA:84
HP:0000377	Abnormal pinna morphology	5888	RAD51	ORPHA:84
HP:0000377	Abnormal pinna morphology	5889	RAD51C	ORPHA:84
HP:0000377	Abnormal pinna morphology	55159	RFWD3	ORPHA:84
HP:0000377	Abnormal pinna morphology	83990	BRIP1	ORPHA:84
HP:0000377	Abnormal pinna morphology	57697	FANCM	ORPHA:84
HP:0000377	Abnormal pinna morphology	79728	PALB2	ORPHA:84
HP:0000377	Abnormal pinna morphology	84464	SLX4	ORPHA:84
HP:0000377	Abnormal pinna morphology	55215	FANCI	ORPHA:84
HP:0000377	Abnormal pinna morphology	147912	SIX5	ORPHA:107
HP:0000377	Abnormal pinna morphology	6495	SIX1	ORPHA:107
HP:0000377	Abnormal pinna morphology	8626	TP63	ORPHA:1896
HP:0000377	Abnormal pinna morphology	51339	DACT1	ORPHA:857
HP:0000377	Abnormal pinna morphology	973	CD79A	ORPHA:33110
HP:0000377	Abnormal pinna morphology	974	CD79B	ORPHA:33110
HP:0000377	Abnormal pinna morphology	3543	IGLL1	ORPHA:33110
HP:0000377	Abnormal pinna morphology	3507	IGHM	ORPHA:33110
HP:0000377	Abnormal pinna morphology	29760	BLNK	ORPHA:33110
HP:0000377	Abnormal pinna morphology	6535	SLC6A8	OMIM:300352
HP:0000377	Abnormal pinna morphology	3199	HOXA2	ORPHA:83463
HP:0000377	Abnormal pinna morphology	27086	FOXP1	ORPHA:391372
HP:0000377	Abnormal pinna morphology	27161	AGO2	OMIM:619149
HP:0000377	Abnormal pinna morphology	5053	PAH	ORPHA:2209
HP:0000377	Abnormal pinna morphology	10026	PIGK	OMIM:618879
HP:0000377	Abnormal pinna morphology	10992	SF3B2	OMIM:164210
HP:0000377	Abnormal pinna morphology	51633	OTUD6B	ORPHA:505237
HP:0000377	Abnormal pinna morphology	1906	EDN1	ORPHA:137888
HP:0000377	Abnormal pinna morphology	5332	PLCB4	ORPHA:137888
HP:0000377	Abnormal pinna morphology	2773	GNAI3	ORPHA:137888
HP:0000377	Abnormal pinna morphology	7291	TWIST1	ORPHA:794
HP:0000377	Abnormal pinna morphology	2263	FGFR2	ORPHA:794
HP:0000377	Abnormal pinna morphology	2261	FGFR3	ORPHA:794
HP:0000377	Abnormal pinna morphology	3981	LIG4	ORPHA:235
HP:0000377	Abnormal pinna morphology	54888	NSUN2	ORPHA:235
HP:0000377	Abnormal pinna morphology	2290	FOXG1	ORPHA:261144
HP:0000377	Abnormal pinna morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000377	Abnormal pinna morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000377	Abnormal pinna morphology	284252	KCTD1	ORPHA:2036
HP:0000377	Abnormal pinna morphology	2138	EYA1	ORPHA:2792
HP:0000377	Abnormal pinna morphology	5075	PAX1	ORPHA:2792
HP:0000377	Abnormal pinna morphology	23522	KAT6B	ORPHA:3047
HP:0000377	Abnormal pinna morphology	64132	XYLT2	ORPHA:85194
HP:0000377	Abnormal pinna morphology	9343	EFTUD2	ORPHA:79113
HP:0000377	Abnormal pinna morphology	2121	EVC	ORPHA:952
HP:0000377	Abnormal pinna morphology	132884	EVC2	ORPHA:952
HP:0000377	Abnormal pinna morphology	8241	RBM10	ORPHA:2886
HP:0000377	Abnormal pinna morphology	10157	AASS	ORPHA:2203
HP:0000377	Abnormal pinna morphology	29920	PYCR2	OMIM:616420
HP:0000377	Abnormal pinna morphology	2245	FGD1	OMIM:305400
HP:0000377	Abnormal pinna morphology	23013	SPEN	OMIM:619312
HP:0000377	Abnormal pinna morphology	10785	WDR4	OMIM:618346
HP:0000377	Abnormal pinna morphology	9320	TRIP12	OMIM:617752
HP:0000377	Abnormal pinna morphology	55023	PHIP	OMIM:617991
HP:0000377	Abnormal pinna morphology	4853	NOTCH2	OMIM:102500
HP:0000377	Abnormal pinna morphology	51002	TPRKB	OMIM:617731
HP:0000377	Abnormal pinna morphology	55275	VPS53	OMIM:615851
HP:0000377	Abnormal pinna morphology	1968	EIF2S3	ORPHA:85282
HP:0000377	Abnormal pinna morphology	5361	PLXNA1	OMIM:619955
HP:0000377	Abnormal pinna morphology	85440	DOCK7	ORPHA:411986
HP:0000377	Abnormal pinna morphology	93210	PGAP3	OMIM:615716
HP:0000377	Abnormal pinna morphology	84295	PHF6	ORPHA:127
HP:0000377	Abnormal pinna morphology	84992	PIGY	OMIM:616809
HP:0000377	Abnormal pinna morphology	283209	PGM2L1	OMIM:620191
HP:0000377	Abnormal pinna morphology	5290	PIK3CA	OMIM:602501
HP:0000377	Abnormal pinna morphology	51506	UFC1	OMIM:618076
HP:0000377	Abnormal pinna morphology	7358	UGDH	OMIM:618792
HP:0000377	Abnormal pinna morphology	1806	DPYD	ORPHA:1675
HP:0000377	Abnormal pinna morphology	51085	MLXIPL	OMIM:194050
HP:0000377	Abnormal pinna morphology	2006	ELN	OMIM:194050
HP:0000377	Abnormal pinna morphology	26040	SETBP1	ORPHA:798
HP:0000377	Abnormal pinna morphology	2697	GJA1	OMIM:257850
HP:0000377	Abnormal pinna morphology	51082	POLR1D	OMIM:613717
HP:0000377	Abnormal pinna morphology	7840	ALMS1	ORPHA:64
HP:0000377	Abnormal pinna morphology	3767	KCNJ11	ORPHA:79134
HP:0000377	Abnormal pinna morphology	79731	NARS2	ORPHA:79134
HP:0000377	Abnormal pinna morphology	6833	ABCC8	ORPHA:79134
HP:0000377	Abnormal pinna morphology	9361	LONP1	OMIM:600373
HP:0000377	Abnormal pinna morphology	9361	LONP1	ORPHA:1458
HP:0000377	Abnormal pinna morphology	2201	FBN2	OMIM:121050
HP:0000377	Abnormal pinna morphology	2201	FBN2	ORPHA:115
HP:0000377	Abnormal pinna morphology	2334	AFF2	ORPHA:100973
HP:0000377	Abnormal pinna morphology	91452	ACBD5	OMIM:618863
HP:0000377	Abnormal pinna morphology	157680	VPS13B	ORPHA:193
HP:0000377	Abnormal pinna morphology	11141	IL1RAPL1	OMIM:300143
HP:0000377	Abnormal pinna morphology	58508	KMT2C	ORPHA:261652
HP:0000377	Abnormal pinna morphology	6602	SMARCD1	OMIM:618779
HP:0000377	Abnormal pinna morphology	9091	PIGQ	OMIM:618548
HP:0000377	Abnormal pinna morphology	22827	PUF60	ORPHA:508488
HP:0000377	Abnormal pinna morphology	6611	SMS	ORPHA:3063
HP:0000377	Abnormal pinna morphology	54880	BCOR	OMIM:300166
HP:0000377	Abnormal pinna morphology	2571	GAD1	OMIM:619124
HP:0000377	Abnormal pinna morphology	55870	ASH1L	OMIM:617796
HP:0000377	Abnormal pinna morphology	1832	DSP	ORPHA:158687
HP:0000377	Abnormal pinna morphology	3728	JUP	ORPHA:158687
HP:0000377	Abnormal pinna morphology	6925	TCF4	ORPHA:2896
HP:0000377	Abnormal pinna morphology	151516	ASPRV1	ORPHA:313
HP:0000377	Abnormal pinna morphology	242	ALOX12B	ORPHA:313
HP:0000377	Abnormal pinna morphology	126410	CYP4F22	ORPHA:313
HP:0000377	Abnormal pinna morphology	6820	SULT2B1	ORPHA:313
HP:0000377	Abnormal pinna morphology	26154	ABCA12	ORPHA:313
HP:0000377	Abnormal pinna morphology	643418	LIPN	ORPHA:313
HP:0000377	Abnormal pinna morphology	59344	ALOXE3	ORPHA:313
HP:0000377	Abnormal pinna morphology	348938	NIPAL4	ORPHA:313
HP:0000377	Abnormal pinna morphology	121214	SDR9C7	ORPHA:313
HP:0000377	Abnormal pinna morphology	7051	TGM1	ORPHA:313
HP:0000377	Abnormal pinna morphology	6929	TCF3	OMIM:619824
HP:0000377	Abnormal pinna morphology	63932	STEEP1	OMIM:301013
HP:0000377	Abnormal pinna morphology	7025	NR2F1	OMIM:615722
HP:0000377	Abnormal pinna morphology	10220	GDF11	OMIM:619122
HP:0000377	Abnormal pinna morphology	8604	SLC25A12	OMIM:612949
HP:0000377	Abnormal pinna morphology	4123	MAN2C1	OMIM:619775
HP:0000377	Abnormal pinna morphology	117581	TWIST2	OMIM:209885
HP:0000377	Abnormal pinna morphology	117581	TWIST2	OMIM:200110
HP:0000377	Abnormal pinna morphology	6913	TBX15	OMIM:260660
HP:0000377	Abnormal pinna morphology	9968	MED12	OMIM:305450
HP:0000377	Abnormal pinna morphology	2248	FGF3	OMIM:610706
HP:0000377	Abnormal pinna morphology	54187	NANS	OMIM:610442
HP:0000377	Abnormal pinna morphology	6650	CAPN15	OMIM:619318
HP:0000377	Abnormal pinna morphology	145258	GSC	OMIM:602471
HP:0000377	Abnormal pinna morphology	3149	HMGB3	OMIM:300915
HP:0000377	Abnormal pinna morphology	8913	CACNA1G	OMIM:618087
HP:0000377	Abnormal pinna morphology	6567	SLC16A2	OMIM:300523
HP:0000377	Abnormal pinna morphology	5396	PRRX1	OMIM:202650
HP:0000377	Abnormal pinna morphology	5396	PRRX1	ORPHA:990
HP:0000377	Abnormal pinna morphology	5015	OTX2	ORPHA:990
HP:0000377	Abnormal pinna morphology	7140	TNNT3	ORPHA:1147
HP:0000377	Abnormal pinna morphology	7136	TNNI2	ORPHA:1147
HP:0000377	Abnormal pinna morphology	5702	PSMC3	OMIM:619354
HP:0000377	Abnormal pinna morphology	7317	UBA1	OMIM:301054
HP:0000377	Abnormal pinna morphology	51780	KDM3B	OMIM:618846
HP:0000377	Abnormal pinna morphology	3703	STT3A	OMIM:619714
HP:0000377	Abnormal pinna morphology	5457	POU4F1	ORPHA:314647
HP:0008569	Microtia, second degree	145173	B3GLCT	ORPHA:709
HP:0008569	Microtia, second degree	145173	B3GLCT	OMIM:261540
HP:0034418	Erythematous oral mucosa	6720	SREBF1	OMIM:158310
HP:0000396	Overfolded helix	60	ACTB	OMIM:243310
HP:0000396	Overfolded helix	9949	AMMECR1	OMIM:300990
HP:0000396	Overfolded helix	9488	PIGB	OMIM:618580
HP:0000396	Overfolded helix	10771	ZMYND11	OMIM:616083
HP:0000396	Overfolded helix	8243	SMC1A	OMIM:301044
HP:0000396	Overfolded helix	253738	EBF3	OMIM:617330
HP:0000396	Overfolded helix	6909	TBX2	OMIM:618223
HP:0000396	Overfolded helix	8260	NAA10	OMIM:309800
HP:0000396	Overfolded helix	54880	BCOR	OMIM:309800
HP:0000396	Overfolded helix	2187	FANCB	OMIM:300514
HP:0000396	Overfolded helix	6228	RPS23	OMIM:617412
HP:0000396	Overfolded helix	4774	NFIA	OMIM:613735
HP:0000396	Overfolded helix	1836	SLC26A2	ORPHA:628
HP:0000396	Overfolded helix	8085	KMT2D	OMIM:620186
HP:0000396	Overfolded helix	9401	RECQL4	OMIM:268400
HP:0000396	Overfolded helix	79848	CSPP1	ORPHA:397715
HP:0000396	Overfolded helix	9786	KIAA0586	ORPHA:397715
HP:0000396	Overfolded helix	283209	PGM2L1	OMIM:620191
HP:0000396	Overfolded helix	284252	KCTD1	OMIM:181270
HP:0000396	Overfolded helix	10682	EBP	OMIM:300960
HP:0000396	Overfolded helix	1457	CSNK2A1	OMIM:617062
HP:0000396	Overfolded helix	7204	TRIO	OMIM:617061
HP:0000396	Overfolded helix	23556	PIGN	ORPHA:280633
HP:0000396	Overfolded helix	23556	PIGN	OMIM:614080
HP:0000396	Overfolded helix	3199	HOXA2	OMIM:612290
HP:0000396	Overfolded helix	203068	TUBB	OMIM:156610
HP:0000396	Overfolded helix	55617	TASP1	OMIM:618950
HP:0000396	Overfolded helix	91179	SCARF2	OMIM:600920
HP:0000396	Overfolded helix	51339	DACT1	OMIM:617466
HP:0000396	Overfolded helix	51339	DACT1	ORPHA:857
HP:0000396	Overfolded helix	53335	BCL11A	OMIM:617101
HP:0000396	Overfolded helix	2782	GNB1	ORPHA:488613
HP:0000396	Overfolded helix	2782	GNB1	OMIM:616973
HP:0000396	Overfolded helix	5500	PPP1CB	OMIM:617506
HP:0000396	Overfolded helix	7291	TWIST1	OMIM:617746
HP:0000396	Overfolded helix	10982	MAPRE2	OMIM:616734
HP:0000396	Overfolded helix	6299	SALL1	ORPHA:857
HP:0000396	Overfolded helix	55636	CHD7	ORPHA:138
HP:0000396	Overfolded helix	9723	SEMA3E	ORPHA:138
HP:0000396	Overfolded helix	139285	AMER1	OMIM:300373
HP:0000396	Overfolded helix	2535	FZD2	OMIM:164745
HP:0000396	Overfolded helix	55252	ASXL2	OMIM:617190
HP:0000396	Overfolded helix	1376	CPT2	OMIM:608836
HP:0000396	Overfolded helix	4784	NFIX	OMIM:602535
HP:0000396	Overfolded helix	4677	NARS1	OMIM:619092
HP:0000396	Overfolded helix	9487	PIGL	OMIM:280000
HP:0000396	Overfolded helix	727857	BHLHA9	ORPHA:3329
HP:0000396	Overfolded helix	738	VPS51	OMIM:618606
HP:0000396	Overfolded helix	93986	FOXP2	ORPHA:209908
HP:0000396	Overfolded helix	284058	KANSL1	OMIM:610443
HP:0000396	Overfolded helix	1147	CHUK	OMIM:619339
HP:0000396	Overfolded helix	29920	PYCR2	ORPHA:481152
HP:0000396	Overfolded helix	3339	HSPG2	OMIM:255800
HP:0000396	Overfolded helix	3339	HSPG2	ORPHA:800
HP:0000396	Overfolded helix	1312	COMT	ORPHA:567
HP:0000396	Overfolded helix	221037	JMJD1C	ORPHA:567
HP:0000396	Overfolded helix	2812	GP1BB	ORPHA:567
HP:0000396	Overfolded helix	6239	RREB1	ORPHA:567
HP:0000396	Overfolded helix	6899	TBX1	ORPHA:567
HP:0000396	Overfolded helix	7290	HIRA	ORPHA:567
HP:0000396	Overfolded helix	9632	SEC24C	ORPHA:567
HP:0000396	Overfolded helix	7353	UFD1	ORPHA:567
HP:0000396	Overfolded helix	421	ARVCF	ORPHA:567
HP:0000396	Overfolded helix	7020	TFAP2A	OMIM:113620
HP:0000396	Overfolded helix	1387	CREBBP	OMIM:618332
HP:0000396	Overfolded helix	1193	CLIC2	ORPHA:324410
HP:0000396	Overfolded helix	1656	DDX6	OMIM:618653
HP:0000396	Overfolded helix	27161	AGO2	OMIM:619149
HP:0000396	Overfolded helix	8621	CDK13	OMIM:617360
HP:0000396	Overfolded helix	5277	PIGA	OMIM:300868
HP:0000396	Overfolded helix	7043	TGFB3	OMIM:615582
HP:0000396	Overfolded helix	867	CBL	OMIM:613563
HP:0000396	Overfolded helix	55012	PPP2R3C	OMIM:618419
HP:0000396	Overfolded helix	6929	TCF3	OMIM:619824
HP:0000396	Overfolded helix	9343	EFTUD2	OMIM:610536
HP:0000396	Overfolded helix	9343	EFTUD2	ORPHA:79113
HP:0000396	Overfolded helix	158326	FREM1	OMIM:608980
HP:0000396	Overfolded helix	58499	ZNF462	OMIM:618619
HP:0000396	Overfolded helix	9361	LONP1	ORPHA:1458
HP:0000396	Overfolded helix	5332	PLCB4	OMIM:614669
HP:0000396	Overfolded helix	2263	FGFR2	ORPHA:313855
HP:0000396	Overfolded helix	29998	BICRA	OMIM:619325
HP:0000396	Overfolded helix	2773	GNAI3	OMIM:602483
HP:0008572	External ear malformation	57167	SALL4	ORPHA:233
HP:0008572	External ear malformation	9935	MAFB	ORPHA:233
HP:0008572	External ear malformation	1123	CHN1	ORPHA:233
HP:0008572	External ear malformation	7291	TWIST1	ORPHA:794
HP:0008572	External ear malformation	2263	FGFR2	ORPHA:794
HP:0008572	External ear malformation	2261	FGFR3	ORPHA:794
HP:0008572	External ear malformation	1491	CTH	ORPHA:212
HP:0008572	External ear malformation	341640	FREM2	ORPHA:2052
HP:0008572	External ear malformation	80144	FRAS1	ORPHA:2052
HP:0008572	External ear malformation	23426	GRIP1	ORPHA:2052
HP:0008572	External ear malformation	113189	CHST14	ORPHA:2953
HP:0008572	External ear malformation	29940	DSE	ORPHA:2953
HP:0008572	External ear malformation	9508	ADAMTS3	ORPHA:2136
HP:0008572	External ear malformation	147372	CCBE1	ORPHA:2136
HP:0008572	External ear malformation	79633	FAT4	ORPHA:2136
HP:0008572	External ear malformation	9326	ZNHIT3	ORPHA:2836
HP:0008572	External ear malformation	547	KIF1A	ORPHA:2836
HP:0008572	External ear malformation	286	ANK1	ORPHA:251066
HP:0008572	External ear malformation	672	BRCA1	ORPHA:84
HP:0008572	External ear malformation	10459	MAD2L2	ORPHA:84
HP:0008572	External ear malformation	7516	XRCC2	ORPHA:84
HP:0008572	External ear malformation	29089	UBE2T	ORPHA:84
HP:0008572	External ear malformation	675	BRCA2	ORPHA:84
HP:0008572	External ear malformation	55120	FANCL	ORPHA:84
HP:0008572	External ear malformation	2177	FANCD2	ORPHA:84
HP:0008572	External ear malformation	2175	FANCA	ORPHA:84
HP:0008572	External ear malformation	2187	FANCB	ORPHA:84
HP:0008572	External ear malformation	2176	FANCC	ORPHA:84
HP:0008572	External ear malformation	2178	FANCE	ORPHA:84
HP:0008572	External ear malformation	2188	FANCF	ORPHA:84
HP:0008572	External ear malformation	2189	FANCG	ORPHA:84
HP:0008572	External ear malformation	5888	RAD51	ORPHA:84
HP:0008572	External ear malformation	5889	RAD51C	ORPHA:84
HP:0008572	External ear malformation	55159	RFWD3	ORPHA:84
HP:0008572	External ear malformation	83990	BRIP1	ORPHA:84
HP:0008572	External ear malformation	57697	FANCM	ORPHA:84
HP:0008572	External ear malformation	79728	PALB2	ORPHA:84
HP:0008572	External ear malformation	84464	SLX4	ORPHA:84
HP:0008572	External ear malformation	2072	ERCC4	ORPHA:84
HP:0008572	External ear malformation	55215	FANCI	ORPHA:84
HP:0008572	External ear malformation	157570	ESCO2	ORPHA:3103
HP:0008572	External ear malformation	2138	EYA1	ORPHA:107
HP:0008572	External ear malformation	147912	SIX5	ORPHA:107
HP:0008572	External ear malformation	6495	SIX1	ORPHA:107
HP:0008572	External ear malformation	2697	GJA1	ORPHA:2710
HP:0008572	External ear malformation	8260	NAA10	ORPHA:568
HP:0008572	External ear malformation	54880	BCOR	ORPHA:568
HP:0008572	External ear malformation	2626	GATA4	ORPHA:251071
HP:0008572	External ear malformation	8626	TP63	ORPHA:1896
HP:0008572	External ear malformation	5813	PURA	ORPHA:438216
HP:0008572	External ear malformation	6905	TBCE	ORPHA:2323
HP:0008572	External ear malformation	203068	TUBB	ORPHA:2505
HP:0008572	External ear malformation	10982	MAPRE2	ORPHA:2505
HP:0008572	External ear malformation	2245	FGD1	ORPHA:915
HP:0008572	External ear malformation	1906	EDN1	ORPHA:137888
HP:0008572	External ear malformation	5332	PLCB4	ORPHA:137888
HP:0008572	External ear malformation	2773	GNAI3	ORPHA:137888
HP:0008572	External ear malformation	6299	SALL1	ORPHA:857
HP:0008572	External ear malformation	51339	DACT1	ORPHA:857
HP:0008572	External ear malformation	55670	PEX26	ORPHA:912
HP:0008572	External ear malformation	5824	PEX19	ORPHA:912
HP:0008572	External ear malformation	5828	PEX2	ORPHA:912
HP:0008572	External ear malformation	8504	PEX3	ORPHA:912
HP:0008572	External ear malformation	8799	PEX11B	ORPHA:912
HP:0008572	External ear malformation	9409	PEX16	ORPHA:912
HP:0008572	External ear malformation	5190	PEX6	ORPHA:912
HP:0008572	External ear malformation	5830	PEX5	ORPHA:912
HP:0008572	External ear malformation	5189	PEX1	ORPHA:912
HP:0008572	External ear malformation	5193	PEX12	ORPHA:912
HP:0008572	External ear malformation	5194	PEX13	ORPHA:912
HP:0008572	External ear malformation	5195	PEX14	ORPHA:912
HP:0008572	External ear malformation	5192	PEX10	ORPHA:912
HP:0008572	External ear malformation	55636	CHD7	ORPHA:138
HP:0008572	External ear malformation	9723	SEMA3E	ORPHA:138
HP:0008572	External ear malformation	6929	TCF3	ORPHA:33110
HP:0008572	External ear malformation	973	CD79A	ORPHA:33110
HP:0008572	External ear malformation	974	CD79B	ORPHA:33110
HP:0008572	External ear malformation	3543	IGLL1	ORPHA:33110
HP:0008572	External ear malformation	3507	IGHM	ORPHA:33110
HP:0008572	External ear malformation	29760	BLNK	ORPHA:33110
HP:0008572	External ear malformation	5295	PIK3R1	ORPHA:33110
HP:0008572	External ear malformation	56262	LRRC8A	ORPHA:33110
HP:0008573	Low-frequency sensorineural hearing impairment	6813	STXBP2	OMIM:613101
HP:0008573	Low-frequency sensorineural hearing impairment	4000	LMNA	ORPHA:740
HP:0008573	Low-frequency sensorineural hearing impairment	10269	ZMPSTE24	ORPHA:740
HP:0008573	Low-frequency sensorineural hearing impairment	7466	WFS1	OMIM:600965
HP:0008577	Underfolded helix	9401	RECQL4	OMIM:268400
HP:0008577	Underfolded helix	2335	FN1	ORPHA:93315
HP:0008577	Underfolded helix	1280	COL2A1	ORPHA:93315
HP:0008577	Underfolded helix	79005	SCNM1	OMIM:620107
HP:0008577	Underfolded helix	9772	TMEM94	OMIM:618316
HP:0008577	Underfolded helix	6535	SLC6A8	OMIM:300352
HP:0008577	Underfolded helix	6567	SLC16A2	OMIM:300523
HP:0034425	Reduced hair sulfur content	7737	RNF113A	OMIM:300953
HP:0034430	Abnormal joint physiology	6197	RPS6KA3	OMIM:303600
HP:0034430	Abnormal joint physiology	9791	PTDSS1	OMIM:151050
HP:0034430	Abnormal joint physiology	9759	HDAC4	OMIM:619797
HP:0034430	Abnormal joint physiology	3756	KCNH1	OMIM:135500
HP:0034430	Abnormal joint physiology	57479	PRR12	OMIM:619539
HP:0034430	Abnormal joint physiology	6611	SMS	OMIM:309583
HP:0034430	Abnormal joint physiology	673	BRAF	OMIM:115150
HP:0034430	Abnormal joint physiology	91461	PKDCC	OMIM:618821
HP:0034430	Abnormal joint physiology	92344	GORAB	OMIM:231070
HP:0034430	Abnormal joint physiology	54499	TMCO1	OMIM:213980
HP:0034430	Abnormal joint physiology	387733	IFITM5	OMIM:610967
HP:0034430	Abnormal joint physiology	51633	OTUD6B	ORPHA:505237
HP:0034430	Abnormal joint physiology	23114	NFASC	OMIM:618356
HP:0034430	Abnormal joint physiology	1289	COL5A1	OMIM:130000
HP:0034430	Abnormal joint physiology	54872	PIGG	ORPHA:488635
HP:0034430	Abnormal joint physiology	1278	COL1A2	OMIM:617821
HP:0034430	Abnormal joint physiology	427	ASAH1	OMIM:228000
HP:0034430	Abnormal joint physiology	9373	PLAA	ORPHA:521426
HP:0034430	Abnormal joint physiology	2783	GNB2	OMIM:619503
HP:0034430	Abnormal joint physiology	3265	HRAS	OMIM:218040
HP:0034430	Abnormal joint physiology	121340	SP7	OMIM:613849
HP:0034430	Abnormal joint physiology	3549	IHH	OMIM:112500
HP:0034430	Abnormal joint physiology	3549	IHH	ORPHA:93388
HP:0034430	Abnormal joint physiology	3861	KRT14	ORPHA:69087
HP:0034430	Abnormal joint physiology	57863	CADM3	OMIM:619519
HP:0034430	Abnormal joint physiology	64374	SIL1	OMIM:248800
HP:0034430	Abnormal joint physiology	3763	KCNJ6	ORPHA:435628
HP:0034430	Abnormal joint physiology	3763	KCNJ6	OMIM:614098
HP:0034430	Abnormal joint physiology	9131	AIFM1	OMIM:300232
HP:0034430	Abnormal joint physiology	2895	GRID2	OMIM:616204
HP:0034430	Abnormal joint physiology	775	CACNA1C	OMIM:620029
HP:0034430	Abnormal joint physiology	4047	LSS	ORPHA:2850
HP:0034430	Abnormal joint physiology	197	AHSG	ORPHA:2850
HP:0034430	Abnormal joint physiology	3694	ITGB6	ORPHA:2850
HP:0034430	Abnormal joint physiology	29072	SETD2	ORPHA:821
HP:0034430	Abnormal joint physiology	10297	APC2	ORPHA:821
HP:0034430	Abnormal joint physiology	4072	EPCAM	ORPHA:144
HP:0034430	Abnormal joint physiology	4292	MLH1	ORPHA:144
HP:0034430	Abnormal joint physiology	5395	PMS2	ORPHA:144
HP:0034430	Abnormal joint physiology	27030	MLH3	ORPHA:144
HP:0034430	Abnormal joint physiology	22909	FAN1	ORPHA:144
HP:0034430	Abnormal joint physiology	3845	KRAS	ORPHA:144
HP:0034430	Abnormal joint physiology	5290	PIK3CA	ORPHA:144
HP:0034430	Abnormal joint physiology	2956	MSH6	ORPHA:144
HP:0034430	Abnormal joint physiology	5378	PMS1	ORPHA:144
HP:0034430	Abnormal joint physiology	4436	MSH2	ORPHA:144
HP:0034430	Abnormal joint physiology	6775	STAT4	ORPHA:85408
HP:0034430	Abnormal joint physiology	3560	IL2RB	ORPHA:85408
HP:0034430	Abnormal joint physiology	79722	ANKRD55	ORPHA:85408
HP:0034430	Abnormal joint physiology	26191	PTPN22	ORPHA:85408
HP:0034430	Abnormal joint physiology	919	CD247	ORPHA:85408
HP:0034430	Abnormal joint physiology	3559	IL2RA	ORPHA:85408
HP:0034430	Abnormal joint physiology	5771	PTPN2	ORPHA:85408
HP:0034430	Abnormal joint physiology	8443	GNPAT	OMIM:222765
HP:0034430	Abnormal joint physiology	3020	H3-3A	OMIM:619720
HP:0034430	Abnormal joint physiology	64218	SEMA4A	ORPHA:440437
HP:0034430	Abnormal joint physiology	657	BMPR1A	ORPHA:440437
HP:0034430	Abnormal joint physiology	6224	RPS20	ORPHA:440437
HP:0034430	Abnormal joint physiology	65082	VPS33A	OMIM:617303
HP:0034430	Abnormal joint physiology	65082	VPS33A	ORPHA:505248
HP:0034430	Abnormal joint physiology	84197	POMK	OMIM:615249
HP:0034430	Abnormal joint physiology	128486	FITM2	OMIM:618635
HP:0034430	Abnormal joint physiology	23431	AP4E1	OMIM:613744
HP:0034430	Abnormal joint physiology	3908	LAMA2	ORPHA:258
HP:0034430	Abnormal joint physiology	3908	LAMA2	OMIM:607855
HP:0034430	Abnormal joint physiology	1798	DPAGT1	ORPHA:353327
HP:0034430	Abnormal joint physiology	1798	DPAGT1	ORPHA:86309
HP:0034430	Abnormal joint physiology	1798	DPAGT1	OMIM:608093
HP:0034430	Abnormal joint physiology	85365	ALG2	ORPHA:353327
HP:0034430	Abnormal joint physiology	6595	SMARCA2	OMIM:619293
HP:0034430	Abnormal joint physiology	23250	ATP11A	OMIM:619851
HP:0034430	Abnormal joint physiology	7345	UCHL1	OMIM:615491
HP:0034430	Abnormal joint physiology	274	BIN1	OMIM:255200
HP:0034430	Abnormal joint physiology	50814	NSDHL	OMIM:308050
HP:0034430	Abnormal joint physiology	1889	ECE1	OMIM:613870
HP:0034430	Abnormal joint physiology	55157	DARS2	ORPHA:137898
HP:0034430	Abnormal joint physiology	55157	DARS2	OMIM:611105
HP:0034430	Abnormal joint physiology	8560	DEGS1	OMIM:618404
HP:0034430	Abnormal joint physiology	6445	SGCG	OMIM:253700
HP:0034430	Abnormal joint physiology	546	ATRX	ORPHA:847
HP:0034430	Abnormal joint physiology	5191	PEX7	OMIM:215100
HP:0034430	Abnormal joint physiology	3848	KRT1	ORPHA:79503
HP:0034430	Abnormal joint physiology	56984	PSMG2	OMIM:619183
HP:0034430	Abnormal joint physiology	9839	ZEB2	ORPHA:261552
HP:0034430	Abnormal joint physiology	9839	ZEB2	ORPHA:261537
HP:0034430	Abnormal joint physiology	4633	MYL2	ORPHA:2020
HP:0034430	Abnormal joint physiology	3679	ITGA7	ORPHA:2020
HP:0034430	Abnormal joint physiology	9200	HACD1	ORPHA:2020
HP:0034430	Abnormal joint physiology	51776	MAP3K20	ORPHA:2020
HP:0034430	Abnormal joint physiology	22872	SEC31A	OMIM:618651
HP:0034430	Abnormal joint physiology	84314	TMEM107	OMIM:617562
HP:0034430	Abnormal joint physiology	10682	EBP	ORPHA:35173
HP:0034430	Abnormal joint physiology	1641	DCX	ORPHA:2148
HP:0034430	Abnormal joint physiology	28514	DLL1	ORPHA:93926
HP:0034430	Abnormal joint physiology	28514	DLL1	ORPHA:93924
HP:0034430	Abnormal joint physiology	28514	DLL1	ORPHA:93925
HP:0034430	Abnormal joint physiology	28514	DLL1	ORPHA:220386
HP:0034430	Abnormal joint physiology	2253	FGF8	ORPHA:93926
HP:0034430	Abnormal joint physiology	2253	FGF8	ORPHA:93924
HP:0034430	Abnormal joint physiology	2253	FGF8	ORPHA:93925
HP:0034430	Abnormal joint physiology	2253	FGF8	ORPHA:220386
HP:0034430	Abnormal joint physiology	6496	SIX3	ORPHA:93926
HP:0034430	Abnormal joint physiology	6496	SIX3	ORPHA:93924
HP:0034430	Abnormal joint physiology	6496	SIX3	ORPHA:93925
HP:0034430	Abnormal joint physiology	6496	SIX3	ORPHA:220386
HP:0034430	Abnormal joint physiology	7050	TGIF1	ORPHA:93926
HP:0034430	Abnormal joint physiology	7050	TGIF1	ORPHA:93924
HP:0034430	Abnormal joint physiology	7050	TGIF1	ORPHA:93925
HP:0034430	Abnormal joint physiology	7050	TGIF1	ORPHA:220386
HP:0034430	Abnormal joint physiology	4838	NODAL	ORPHA:93926
HP:0034430	Abnormal joint physiology	4838	NODAL	ORPHA:93924
HP:0034430	Abnormal joint physiology	4838	NODAL	ORPHA:93925
HP:0034430	Abnormal joint physiology	4838	NODAL	ORPHA:220386
HP:0034430	Abnormal joint physiology	7546	ZIC2	ORPHA:93926
HP:0034430	Abnormal joint physiology	7546	ZIC2	ORPHA:93924
HP:0034430	Abnormal joint physiology	7546	ZIC2	ORPHA:93925
HP:0034430	Abnormal joint physiology	7546	ZIC2	ORPHA:220386
HP:0034430	Abnormal joint physiology	6491	STIL	ORPHA:93926
HP:0034430	Abnormal joint physiology	6491	STIL	ORPHA:93924
HP:0034430	Abnormal joint physiology	6491	STIL	ORPHA:93925
HP:0034430	Abnormal joint physiology	6491	STIL	ORPHA:220386
HP:0034430	Abnormal joint physiology	2619	GAS1	ORPHA:93926
HP:0034430	Abnormal joint physiology	2619	GAS1	ORPHA:93924
HP:0034430	Abnormal joint physiology	2619	GAS1	ORPHA:93925
HP:0034430	Abnormal joint physiology	2619	GAS1	ORPHA:220386
HP:0034430	Abnormal joint physiology	84976	DISP1	ORPHA:93926
HP:0034430	Abnormal joint physiology	84976	DISP1	ORPHA:93924
HP:0034430	Abnormal joint physiology	84976	DISP1	ORPHA:93925
HP:0034430	Abnormal joint physiology	84976	DISP1	ORPHA:220386
HP:0034430	Abnormal joint physiology	2736	GLI2	ORPHA:93926
HP:0034430	Abnormal joint physiology	2736	GLI2	ORPHA:93924
HP:0034430	Abnormal joint physiology	2736	GLI2	ORPHA:93925
HP:0034430	Abnormal joint physiology	2736	GLI2	ORPHA:220386
HP:0034430	Abnormal joint physiology	8928	FOXH1	ORPHA:93926
HP:0034430	Abnormal joint physiology	8928	FOXH1	ORPHA:93924
HP:0034430	Abnormal joint physiology	8928	FOXH1	ORPHA:93925
HP:0034430	Abnormal joint physiology	8928	FOXH1	ORPHA:220386
HP:0034430	Abnormal joint physiology	50937	CDON	ORPHA:93926
HP:0034430	Abnormal joint physiology	50937	CDON	ORPHA:93924
HP:0034430	Abnormal joint physiology	50937	CDON	ORPHA:93925
HP:0034430	Abnormal joint physiology	50937	CDON	ORPHA:220386
HP:0034430	Abnormal joint physiology	4632	MYL1	OMIM:618414
HP:0034430	Abnormal joint physiology	2752	GLUL	OMIM:610015
HP:0034430	Abnormal joint physiology	23007	PLCH1	ORPHA:93925
HP:0034430	Abnormal joint physiology	10735	STAG2	ORPHA:93925
HP:0034430	Abnormal joint physiology	10735	STAG2	ORPHA:220386
HP:0034430	Abnormal joint physiology	3782	KCNN3	OMIM:618658
HP:0034430	Abnormal joint physiology	11285	B4GALT7	OMIM:130070
HP:0034430	Abnormal joint physiology	11285	B4GALT7	ORPHA:75496
HP:0034430	Abnormal joint physiology	10717	AP4B1	OMIM:614066
HP:0034430	Abnormal joint physiology	149371	EXOC8	OMIM:619076
HP:0034430	Abnormal joint physiology	11154	AP4S1	OMIM:614067
HP:0034430	Abnormal joint physiology	55699	IARS2	OMIM:616007
HP:0034430	Abnormal joint physiology	9289	ADGRG1	ORPHA:98889
HP:0034430	Abnormal joint physiology	27286	SRPX2	ORPHA:98889
HP:0034430	Abnormal joint physiology	26137	ZBTB20	OMIM:259050
HP:0034430	Abnormal joint physiology	26137	ZBTB20	ORPHA:3042
HP:0034430	Abnormal joint physiology	64419	MTMR14	OMIM:160150
HP:0034430	Abnormal joint physiology	57152	SLURP1	ORPHA:87503
HP:0034430	Abnormal joint physiology	27086	FOXP1	ORPHA:391372
HP:0034430	Abnormal joint physiology	773	CACNA1A	OMIM:617106
HP:0034430	Abnormal joint physiology	6506	SLC1A2	OMIM:617105
HP:0034430	Abnormal joint physiology	388015	RTL1	ORPHA:96334
HP:0034430	Abnormal joint physiology	388015	RTL1	ORPHA:254528
HP:0034430	Abnormal joint physiology	8788	DLK1	ORPHA:96334
HP:0034430	Abnormal joint physiology	8788	DLK1	ORPHA:254528
HP:0034430	Abnormal joint physiology	55384	MEG3	ORPHA:96334
HP:0034430	Abnormal joint physiology	55384	MEG3	ORPHA:254528
HP:0034430	Abnormal joint physiology	51085	MLXIPL	OMIM:194050
HP:0034430	Abnormal joint physiology	2006	ELN	OMIM:194050
HP:0034430	Abnormal joint physiology	487	ATP2A1	OMIM:601003
HP:0034430	Abnormal joint physiology	4677	NARS1	OMIM:619091
HP:0034430	Abnormal joint physiology	22906	TRAK1	OMIM:618201
HP:0034430	Abnormal joint physiology	81031	SLC2A10	OMIM:208050
HP:0034430	Abnormal joint physiology	5692	PSMB4	OMIM:617591
HP:0034430	Abnormal joint physiology	5698	PSMB9	OMIM:617591
HP:0034430	Abnormal joint physiology	51227	PIGP	OMIM:617599
HP:0034430	Abnormal joint physiology	55275	VPS53	OMIM:615851
HP:0034430	Abnormal joint physiology	84570	COL25A1	ORPHA:1143
HP:0034430	Abnormal joint physiology	6567	SLC16A2	ORPHA:59
HP:0034430	Abnormal joint physiology	6567	SLC16A2	OMIM:300523
HP:0034430	Abnormal joint physiology	1387	CREBBP	OMIM:618332
HP:0034430	Abnormal joint physiology	1387	CREBBP	OMIM:180849
HP:0034430	Abnormal joint physiology	81570	CLPB	OMIM:616271
HP:0034430	Abnormal joint physiology	667	DST	OMIM:614653
HP:0034430	Abnormal joint physiology	3329	HSPD1	OMIM:612233
HP:0034430	Abnormal joint physiology	284119	CAVIN1	OMIM:613327
HP:0034430	Abnormal joint physiology	55770	EXOC2	OMIM:619306
HP:0034430	Abnormal joint physiology	8905	AP1S2	OMIM:304340
HP:0034430	Abnormal joint physiology	9927	MFN2	ORPHA:99947
HP:0034430	Abnormal joint physiology	9927	MFN2	OMIM:609260
HP:0034430	Abnormal joint physiology	4001	LMNB1	ORPHA:99027
HP:0034430	Abnormal joint physiology	389827	MYMK	OMIM:254940
HP:0034430	Abnormal joint physiology	10075	HUWE1	OMIM:309590
HP:0034430	Abnormal joint physiology	9663	LPIN2	OMIM:609628
HP:0034430	Abnormal joint physiology	9663	LPIN2	ORPHA:77297
HP:0034430	Abnormal joint physiology	84706	GPT2	OMIM:616281
HP:0034430	Abnormal joint physiology	579	NKX3-2	OMIM:613330
HP:0034430	Abnormal joint physiology	1756	DMD	OMIM:310200
HP:0034430	Abnormal joint physiology	1756	DMD	ORPHA:98896
HP:0034430	Abnormal joint physiology	9526	MPDU1	OMIM:609180
HP:0034430	Abnormal joint physiology	203547	VMA21	OMIM:310440
HP:0034430	Abnormal joint physiology	4747	NEFL	OMIM:607684
HP:0034430	Abnormal joint physiology	256297	PTF1A	OMIM:609069
HP:0034430	Abnormal joint physiology	411	ARSB	OMIM:253200
HP:0034430	Abnormal joint physiology	6442	SGCA	OMIM:608099
HP:0034430	Abnormal joint physiology	10049	DNAJB6	OMIM:603511
HP:0034430	Abnormal joint physiology	79868	ALG13	OMIM:300884
HP:0034430	Abnormal joint physiology	8882	ZPR1	OMIM:619321
HP:0034430	Abnormal joint physiology	10229	COQ7	OMIM:616733
HP:0034430	Abnormal joint physiology	112939	NACC1	ORPHA:500545
HP:0034430	Abnormal joint physiology	29078	NDUFAF4	OMIM:618237
HP:0034430	Abnormal joint physiology	5831	PYCR1	OMIM:614438
HP:0034430	Abnormal joint physiology	5010	CLDN11	OMIM:619328
HP:0034430	Abnormal joint physiology	4204	MECP2	OMIM:300055
HP:0034430	Abnormal joint physiology	3039	HBA1	ORPHA:98791
HP:0034430	Abnormal joint physiology	3040	HBA2	ORPHA:98791
HP:0034430	Abnormal joint physiology	10940	POP1	OMIM:617396
HP:0034430	Abnormal joint physiology	11253	MAN1B1	OMIM:614202
HP:0034430	Abnormal joint physiology	6331	SCN5A	ORPHA:1344
HP:0034430	Abnormal joint physiology	4878	NPPA	ORPHA:1344
HP:0034430	Abnormal joint physiology	64856	VWA1	OMIM:619216
HP:0034430	Abnormal joint physiology	7965	AIMP2	OMIM:618006
HP:0034430	Abnormal joint physiology	9361	LONP1	ORPHA:79243
HP:0034430	Abnormal joint physiology	5160	PDHA1	ORPHA:79243
HP:0034430	Abnormal joint physiology	91647	ATPAF2	OMIM:604273
HP:0034430	Abnormal joint physiology	6390	SDHB	OMIM:619224
HP:0034430	Abnormal joint physiology	8802	SUCLG1	ORPHA:17
HP:0034430	Abnormal joint physiology	79796	ALG9	OMIM:263210
HP:0034430	Abnormal joint physiology	84896	ATAD1	OMIM:618011
HP:0034430	Abnormal joint physiology	128637	TBC1D20	OMIM:615663
HP:0034430	Abnormal joint physiology	8425	LTBP4	ORPHA:98896
HP:0034430	Abnormal joint physiology	7874	USP7	ORPHA:500055
HP:0034430	Abnormal joint physiology	9851	KIAA0753	OMIM:619479
HP:0034430	Abnormal joint physiology	35	ACADS	OMIM:201470
HP:0034430	Abnormal joint physiology	2033	EP300	OMIM:180849
HP:0034430	Abnormal joint physiology	2517	FUCA1	OMIM:230000
HP:0034430	Abnormal joint physiology	25782	RAB3GAP2	OMIM:614225
HP:0034430	Abnormal joint physiology	22931	RAB18	OMIM:614222
HP:0034430	Abnormal joint physiology	998	CDC42	ORPHA:487796
HP:0034430	Abnormal joint physiology	4534	MTM1	OMIM:310400
HP:0034430	Abnormal joint physiology	2571	GAD1	OMIM:619124
HP:0034430	Abnormal joint physiology	162514	TRPV3	OMIM:614594
HP:0034430	Abnormal joint physiology	202018	TAPT1	OMIM:616897
HP:0034430	Abnormal joint physiology	342035	GLDN	OMIM:617194
HP:0034430	Abnormal joint physiology	2176	FANCC	OMIM:227645
HP:0034430	Abnormal joint physiology	5538	PPT1	OMIM:256730
HP:0034430	Abnormal joint physiology	8243	SMC1A	ORPHA:220386
HP:0034430	Abnormal joint physiology	8815	BANF1	OMIM:614008
HP:0034430	Abnormal joint physiology	84700	MYO18B	OMIM:616549
HP:0034430	Abnormal joint physiology	84081	NSRP1	OMIM:620001
HP:0034430	Abnormal joint physiology	6389	SDHA	OMIM:252011
HP:0034430	Abnormal joint physiology	2801	GOLGA2	OMIM:620240
HP:0034430	Abnormal joint physiology	224	ALDH3A2	OMIM:270200
HP:0034430	Abnormal joint physiology	129285	PPP1R21	OMIM:619383
HP:0034430	Abnormal joint physiology	84842	HPDL	OMIM:619026
HP:0034430	Abnormal joint physiology	22978	NT5C2	OMIM:613162
HP:0034430	Abnormal joint physiology	221692	PHACTR1	OMIM:618298
HP:0034430	Abnormal joint physiology	1140	CHRNB1	OMIM:616313
HP:0034430	Abnormal joint physiology	9990	SLC12A6	OMIM:218000
HP:0034430	Abnormal joint physiology	6786	STIM1	OMIM:160565
HP:0034430	Abnormal joint physiology	203859	ANO5	ORPHA:206549
HP:0034430	Abnormal joint physiology	30061	SLC40A1	ORPHA:139491
HP:0034430	Abnormal joint physiology	23592	LEMD3	ORPHA:166119
HP:0034430	Abnormal joint physiology	5354	PLP1	ORPHA:99015
HP:0034430	Abnormal joint physiology	242	ALOX12B	ORPHA:281122
HP:0034430	Abnormal joint physiology	59344	ALOXE3	ORPHA:281122
HP:0034430	Abnormal joint physiology	112	ADCY6	ORPHA:2680
HP:0034430	Abnormal joint physiology	150468	CKAP2L	ORPHA:3255
HP:0034430	Abnormal joint physiology	10651	MTX2	ORPHA:90153
HP:0034430	Abnormal joint physiology	8925	HERC1	ORPHA:457359
HP:0034430	Abnormal joint physiology	3248	HPGD	ORPHA:2796
HP:0034430	Abnormal joint physiology	3248	HPGD	OMIM:259100
HP:0034430	Abnormal joint physiology	6578	SLCO2A1	ORPHA:2796
HP:0034430	Abnormal joint physiology	1499	CTNNB1	ORPHA:873
HP:0034430	Abnormal joint physiology	324	APC	ORPHA:873
HP:0034430	Abnormal joint physiology	5251	PHEX	ORPHA:89936
HP:0034430	Abnormal joint physiology	8239	USP9X	ORPHA:480880
HP:0034430	Abnormal joint physiology	6329	SCN4A	ORPHA:99735
HP:0034430	Abnormal joint physiology	7305	TYROBP	ORPHA:2770
HP:0034430	Abnormal joint physiology	54209	TREM2	ORPHA:2770
HP:0034430	Abnormal joint physiology	7040	TGFB1	ORPHA:1328
HP:0034430	Abnormal joint physiology	4598	MVK	ORPHA:343
HP:0034430	Abnormal joint physiology	56052	ALG1	ORPHA:79327
HP:0034430	Abnormal joint physiology	4094	MAF	ORPHA:1272
HP:0034430	Abnormal joint physiology	6598	SMARCB1	ORPHA:99966
HP:0034430	Abnormal joint physiology	2778	GNAS	ORPHA:2762
HP:0034430	Abnormal joint physiology	26154	ABCA12	ORPHA:457
HP:0034430	Abnormal joint physiology	90	ACVR1	ORPHA:337
HP:0034430	Abnormal joint physiology	5159	PDGFRB	ORPHA:2591
HP:0034430	Abnormal joint physiology	2990	GUSB	OMIM:253220
HP:0034430	Abnormal joint physiology	4053	LTBP2	ORPHA:3449
HP:0034430	Abnormal joint physiology	81794	ADAMTS10	ORPHA:3449
HP:0034430	Abnormal joint physiology	727857	BHLHA9	ORPHA:3329
HP:0034430	Abnormal joint physiology	875	CBS	OMIM:236200
HP:0034430	Abnormal joint physiology	10225	CD96	ORPHA:1308
HP:0034430	Abnormal joint physiology	9051	PSTPIP1	ORPHA:69126
HP:0034430	Abnormal joint physiology	4982	TNFRSF11B	ORPHA:1416
HP:0034430	Abnormal joint physiology	56172	ANKH	ORPHA:1416
HP:0034430	Abnormal joint physiology	4322	MMP13	OMIM:602111
HP:0034430	Abnormal joint physiology	4882	NPR2	OMIM:602875
HP:0034430	Abnormal joint physiology	10262	SF3B4	OMIM:154400
HP:0034430	Abnormal joint physiology	6424	SFRP4	OMIM:265900
HP:0034430	Abnormal joint physiology	85301	COL27A1	OMIM:615155
HP:0034430	Abnormal joint physiology	80207	OPA3	ORPHA:67036
HP:0034430	Abnormal joint physiology	23233	EXOC6B	ORPHA:93359
HP:0034430	Abnormal joint physiology	6023	RMRP	OMIM:250250
HP:0034430	Abnormal joint physiology	6023	RMRP	ORPHA:175
HP:0034430	Abnormal joint physiology	6023	RMRP	OMIM:607095
HP:0034430	Abnormal joint physiology	10274	STAG1	ORPHA:502434
HP:0034430	Abnormal joint physiology	4796	TONSL	ORPHA:93357
HP:0034430	Abnormal joint physiology	4796	TONSL	OMIM:271510
HP:0034430	Abnormal joint physiology	10060	ABCC9	OMIM:619719
HP:0034430	Abnormal joint physiology	55869	HDAC8	OMIM:300882
HP:0034430	Abnormal joint physiology	100151683	RNU4ATAC	OMIM:226960
HP:0034430	Abnormal joint physiology	54928	BPNT2	OMIM:614078
HP:0034430	Abnormal joint physiology	83737	ITCH	OMIM:613385
HP:0034430	Abnormal joint physiology	1299	COL9A3	OMIM:600969
HP:0034430	Abnormal joint physiology	2782	GNB1	OMIM:616973
HP:0034430	Abnormal joint physiology	7030	TFE3	OMIM:301066
HP:0034430	Abnormal joint physiology	25836	NIPBL	OMIM:122470
HP:0034430	Abnormal joint physiology	6910	TBX5	OMIM:142900
HP:0034430	Abnormal joint physiology	633	BGN	OMIM:300106
HP:0034430	Abnormal joint physiology	83452	RAB33B	OMIM:615222
HP:0034430	Abnormal joint physiology	55012	PPP2R3C	OMIM:618419
HP:0034430	Abnormal joint physiology	200734	SPRED2	OMIM:619745
HP:0034430	Abnormal joint physiology	3930	LBR	OMIM:618019
HP:0034430	Abnormal joint physiology	54808	DYM	ORPHA:239
HP:0034430	Abnormal joint physiology	6535	SLC6A8	OMIM:300352
HP:0034430	Abnormal joint physiology	8367	H4C5	OMIM:619950
HP:0034430	Abnormal joint physiology	10046	MAMLD1	ORPHA:456328
HP:0034430	Abnormal joint physiology	23135	KDM6B	OMIM:618505
HP:0034430	Abnormal joint physiology	7148	TNXB	ORPHA:230839
HP:0034430	Abnormal joint physiology	7148	TNXB	OMIM:615963
HP:0034430	Abnormal joint physiology	7148	TNXB	OMIM:606408
HP:0034430	Abnormal joint physiology	6938	TCF12	OMIM:619718
HP:0034430	Abnormal joint physiology	1788	DNMT3A	ORPHA:404443
HP:0034430	Abnormal joint physiology	9578	CDC42BPB	OMIM:619841
HP:0034430	Abnormal joint physiology	64412	GZF1	OMIM:617662
HP:0034430	Abnormal joint physiology	283489	CHAMP1	OMIM:616579
HP:0034430	Abnormal joint physiology	7125	TNNC2	OMIM:620161
HP:0034430	Abnormal joint physiology	9739	SETD1A	OMIM:619056
HP:0034430	Abnormal joint physiology	815	CAMK2A	OMIM:617798
HP:0034430	Abnormal joint physiology	90993	CREB3L1	OMIM:616229
HP:0034430	Abnormal joint physiology	5238	PGM3	OMIM:615816
HP:0034430	Abnormal joint physiology	157680	VPS13B	OMIM:216550
HP:0034430	Abnormal joint physiology	23116	TOGARAM1	OMIM:619185
HP:0034430	Abnormal joint physiology	6872	TAF1	ORPHA:480907
HP:0034430	Abnormal joint physiology	6872	TAF1	OMIM:300966
HP:0034430	Abnormal joint physiology	84823	LMNB2	OMIM:619180
HP:0034430	Abnormal joint physiology	4763	NF1	ORPHA:363700
HP:0034430	Abnormal joint physiology	11107	PRDM5	OMIM:614170
HP:0034430	Abnormal joint physiology	57178	ZMIZ1	OMIM:618659
HP:0034430	Abnormal joint physiology	23545	ATP6V0A2	OMIM:278250
HP:0034430	Abnormal joint physiology	23545	ATP6V0A2	OMIM:219200
HP:0034430	Abnormal joint physiology	649	BMP1	OMIM:614856
HP:0034430	Abnormal joint physiology	26057	ANKRD17	OMIM:619504
HP:0034430	Abnormal joint physiology	526	ATP6V1B2	ORPHA:3473
HP:0034430	Abnormal joint physiology	165	AEBP1	ORPHA:536532
HP:0034430	Abnormal joint physiology	165	AEBP1	OMIM:618000
HP:0034430	Abnormal joint physiology	375	ARF1	ORPHA:98892
HP:0034430	Abnormal joint physiology	4131	MAP1B	ORPHA:98892
HP:0034430	Abnormal joint physiology	160418	TMTC3	ORPHA:98892
HP:0034430	Abnormal joint physiology	10564	ARFGEF2	ORPHA:98892
HP:0034430	Abnormal joint physiology	5518	PPP2R1A	OMIM:616362
HP:0034430	Abnormal joint physiology	5518	PPP2R1A	ORPHA:457284
HP:0034430	Abnormal joint physiology	3572	IL6ST	OMIM:619752
HP:0034430	Abnormal joint physiology	7862	BRPF1	OMIM:617333
HP:0034430	Abnormal joint physiology	22859	ADGRL1	OMIM:620065
HP:0034430	Abnormal joint physiology	283209	PGM2L1	OMIM:620191
HP:0034430	Abnormal joint physiology	9321	TRIP11	OMIM:184260
HP:0034430	Abnormal joint physiology	7750	ZMYM2	OMIM:619522
HP:0034430	Abnormal joint physiology	53335	BCL11A	OMIM:617101
HP:0034430	Abnormal joint physiology	200424	TET3	OMIM:618798
HP:0034430	Abnormal joint physiology	540	ATP7B	OMIM:277900
HP:0034430	Abnormal joint physiology	23314	SATB2	ORPHA:576283
HP:0034430	Abnormal joint physiology	11117	EMILIN1	OMIM:620080
HP:0034430	Abnormal joint physiology	79989	IFT56	OMIM:619534
HP:0034430	Abnormal joint physiology	8565	YARS1	OMIM:619418
HP:0034430	Abnormal joint physiology	84168	ANTXR1	OMIM:230740
HP:0034430	Abnormal joint physiology	8621	CDK13	OMIM:617360
HP:0034430	Abnormal joint physiology	22907	DHX30	OMIM:617804
HP:0034430	Abnormal joint physiology	9949	AMMECR1	OMIM:300990
HP:0034430	Abnormal joint physiology	56896	DPYSL5	OMIM:619435
HP:0034430	Abnormal joint physiology	64116	SLC39A8	OMIM:616721
HP:0034430	Abnormal joint physiology	79912	PYROXD1	OMIM:617258
HP:0034430	Abnormal joint physiology	6418	SET	OMIM:618106
HP:0034430	Abnormal joint physiology	85358	SHANK3	OMIM:606232
HP:0034430	Abnormal joint physiology	23028	KDM1A	OMIM:616728
HP:0034430	Abnormal joint physiology	26115	TANC2	OMIM:618906
HP:0034430	Abnormal joint physiology	128869	PIGU	OMIM:618590
HP:0034430	Abnormal joint physiology	57551	TAOK1	OMIM:619575
HP:0034430	Abnormal joint physiology	537	ATP6AP1	OMIM:300972
HP:0034430	Abnormal joint physiology	1621	DBH	OMIM:223360
HP:0034430	Abnormal joint physiology	55033	FKBP14	ORPHA:300179
HP:0034430	Abnormal joint physiology	84068	SLC10A7	OMIM:618363
HP:0034430	Abnormal joint physiology	83987	CCDC8	OMIM:614205
HP:0034430	Abnormal joint physiology	9820	CUL7	OMIM:273750
HP:0034430	Abnormal joint physiology	7703	PCGF2	OMIM:618371
HP:0034430	Abnormal joint physiology	1822	ATN1	OMIM:618494
HP:0034430	Abnormal joint physiology	25	ABL1	OMIM:617602
HP:0034430	Abnormal joint physiology	6304	SATB1	OMIM:619229
HP:0034430	Abnormal joint physiology	716	C1S	OMIM:617174
HP:0034430	Abnormal joint physiology	134218	DNAJC21	OMIM:617052
HP:0034430	Abnormal joint physiology	51604	PIGT	ORPHA:369837
HP:0034430	Abnormal joint physiology	80781	COL18A1	OMIM:267750
HP:0034430	Abnormal joint physiology	1457	CSNK2A1	OMIM:617062
HP:0034430	Abnormal joint physiology	23112	TNRC6B	OMIM:619243
HP:0034430	Abnormal joint physiology	10220	GDF11	OMIM:619122
HP:0034430	Abnormal joint physiology	5500	PPP1CB	OMIM:617506
HP:0034430	Abnormal joint physiology	84905	ZNF341	OMIM:618282
HP:0034430	Abnormal joint physiology	1290	COL5A2	OMIM:130010
HP:0034430	Abnormal joint physiology	11014	KDELR2	OMIM:619131
HP:0034430	Abnormal joint physiology	55023	PHIP	OMIM:617991
HP:0034430	Abnormal joint physiology	2193	FARSA	OMIM:619013
HP:0034430	Abnormal joint physiology	1984	EIF5A	OMIM:619376
HP:0034430	Abnormal joint physiology	51780	KDM3B	OMIM:618846
HP:0034430	Abnormal joint physiology	10020	GNE	ORPHA:3166
HP:0034430	Abnormal joint physiology	8139	GAN	ORPHA:643
HP:0034430	Abnormal joint physiology	11011	TLK2	OMIM:618050
HP:0034430	Abnormal joint physiology	26229	B3GAT3	OMIM:245600
HP:0034430	Abnormal joint physiology	11141	IL1RAPL1	OMIM:300143
HP:0034430	Abnormal joint physiology	23309	SIN3B	ORPHA:500166
HP:0034430	Abnormal joint physiology	1806	DPYD	ORPHA:293948
HP:0034430	Abnormal joint physiology	341208	HEPHL1	OMIM:261990
HP:0034430	Abnormal joint physiology	7471	WNT1	OMIM:615220
HP:0034430	Abnormal joint physiology	57728	WDR19	OMIM:614378
HP:0034430	Abnormal joint physiology	25871	NEPRO	OMIM:618853
HP:0034430	Abnormal joint physiology	8085	KMT2D	OMIM:147920
HP:0034430	Abnormal joint physiology	3106	HLA-B	ORPHA:397
HP:0034430	Abnormal joint physiology	3106	HLA-B	ORPHA:29207
HP:0034430	Abnormal joint physiology	8974	P4HA2	ORPHA:397
HP:0034430	Abnormal joint physiology	54507	ADAMTSL4	ORPHA:1885
HP:0034430	Abnormal joint physiology	2314	FLII	ORPHA:819
HP:0034430	Abnormal joint physiology	23096	IQSEC2	ORPHA:819
HP:0034430	Abnormal joint physiology	84572	GNPTG	OMIM:252605
HP:0034430	Abnormal joint physiology	3418	IDH2	ORPHA:296
HP:0034430	Abnormal joint physiology	170691	ADAMTS17	OMIM:613195
HP:0034430	Abnormal joint physiology	340061	STING1	OMIM:615934
HP:0034430	Abnormal joint physiology	4054	LTBP3	ORPHA:969
HP:0034430	Abnormal joint physiology	222663	SCUBE3	OMIM:619184
HP:0034430	Abnormal joint physiology	112476	PRRT2	ORPHA:98810
HP:0034430	Abnormal joint physiology	25953	PNKD	ORPHA:98810
HP:0034430	Abnormal joint physiology	4318	MMP9	ORPHA:1040
HP:0034430	Abnormal joint physiology	493856	CISD2	ORPHA:3463
HP:0034430	Abnormal joint physiology	7466	WFS1	ORPHA:3463
HP:0034430	Abnormal joint physiology	7486	WRN	ORPHA:902
HP:0034430	Abnormal joint physiology	285362	SUMF1	ORPHA:585
HP:0034430	Abnormal joint physiology	9555	MACROH2A1	ORPHA:1275
HP:0034430	Abnormal joint physiology	5307	PITX1	ORPHA:1275
HP:0034430	Abnormal joint physiology	6583	SLC22A4	OMIM:180300
HP:0034430	Abnormal joint physiology	4261	CIITA	OMIM:180300
HP:0034430	Abnormal joint physiology	51744	CD244	OMIM:180300
HP:0034430	Abnormal joint physiology	4795	NFKBIL1	OMIM:180300
HP:0034430	Abnormal joint physiology	3586	IL10	OMIM:180300
HP:0034430	Abnormal joint physiology	2010	EMD	ORPHA:98863
HP:0034430	Abnormal joint physiology	6473	SHOX	ORPHA:240
HP:0034430	Abnormal joint physiology	57724	EPG5	ORPHA:1493
HP:0034430	Abnormal joint physiology	79188	TMEM43	ORPHA:98853
HP:0034430	Abnormal joint physiology	23224	SYNE2	ORPHA:98853
HP:0034430	Abnormal joint physiology	6448	SGSH	OMIM:252900
HP:0034430	Abnormal joint physiology	443	ASPA	ORPHA:314911
HP:0034430	Abnormal joint physiology	2743	GLRB	ORPHA:3197
HP:0034430	Abnormal joint physiology	2741	GLRA1	ORPHA:3197
HP:0034430	Abnormal joint physiology	10243	GPHN	ORPHA:3197
HP:0034430	Abnormal joint physiology	9152	SLC6A5	ORPHA:3197
HP:0034430	Abnormal joint physiology	8883	NAE1	OMIM:620210
HP:0034430	Abnormal joint physiology	23476	BRD4	ORPHA:199
HP:0034430	Abnormal joint physiology	9126	SMC3	ORPHA:199
HP:0034430	Abnormal joint physiology	5885	RAD21	ORPHA:199
HP:0034430	Abnormal joint physiology	4659	PPP1R12A	OMIM:618820
HP:0034430	Abnormal joint physiology	207	AKT1	ORPHA:744
HP:0034430	Abnormal joint physiology	54676	GTPBP2	OMIM:617988
HP:0034430	Abnormal joint physiology	2799	GNS	OMIM:252940
HP:0034430	Abnormal joint physiology	50515	CHST11	OMIM:618167
HP:0034430	Abnormal joint physiology	3889	KRT83	OMIM:617756
HP:0034430	Abnormal joint physiology	3664	IRF6	ORPHA:1300
HP:0034430	Abnormal joint physiology	138050	HGSNAT	OMIM:252930
HP:0034430	Abnormal joint physiology	71	ACTG1	ORPHA:2995
HP:0034430	Abnormal joint physiology	60	ACTB	ORPHA:2995
HP:0034430	Abnormal joint physiology	3636	INPPL1	ORPHA:2746
HP:0034430	Abnormal joint physiology	5130	PCYT1A	OMIM:608940
HP:0034430	Abnormal joint physiology	54829	ASPN	OMIM:607850
HP:0034430	Abnormal joint physiology	4669	NAGLU	OMIM:252920
HP:0034430	Abnormal joint physiology	8036	SHOC2	OMIM:607721
HP:0034430	Abnormal joint physiology	3376	IARS1	OMIM:617093
HP:0034430	Abnormal joint physiology	3376	IARS1	ORPHA:541423
HP:0034430	Abnormal joint physiology	23394	ADNP	ORPHA:404448
HP:0034430	Abnormal joint physiology	23394	ADNP	OMIM:615873
HP:0034430	Abnormal joint physiology	5728	PTEN	OMIM:605309
HP:0034430	Abnormal joint physiology	9853	RUSC2	OMIM:617773
HP:0034430	Abnormal joint physiology	57539	WDR35	OMIM:613610
HP:0034430	Abnormal joint physiology	347734	SLC35B2	OMIM:620269
HP:0034430	Abnormal joint physiology	23126	POGZ	ORPHA:468678
HP:0034430	Abnormal joint physiology	23126	POGZ	OMIM:616364
HP:0034430	Abnormal joint physiology	3190	HNRNPK	ORPHA:453504
HP:0034430	Abnormal joint physiology	3190	HNRNPK	ORPHA:352665
HP:0034430	Abnormal joint physiology	4125	MAN2B1	ORPHA:309282
HP:0034430	Abnormal joint physiology	10743	RAI1	ORPHA:477817
HP:0034430	Abnormal joint physiology	197131	UBR1	OMIM:243800
HP:0034430	Abnormal joint physiology	3021	H3-3B	OMIM:619721
HP:0034430	Abnormal joint physiology	5176	SERPINF1	OMIM:613982
HP:0034430	Abnormal joint physiology	27245	AHDC1	ORPHA:412069
HP:0034430	Abnormal joint physiology	7532	YWHAG	OMIM:617665
HP:0034430	Abnormal joint physiology	28960	DCPS	OMIM:616459
HP:0034430	Abnormal joint physiology	55780	ERMARD	ORPHA:75857
HP:0034430	Abnormal joint physiology	64175	P3H1	OMIM:610915
HP:0034430	Abnormal joint physiology	54453	RIN2	OMIM:613075
HP:0034430	Abnormal joint physiology	4853	NOTCH2	OMIM:102500
HP:0034430	Abnormal joint physiology	5015	OTX2	OMIM:610125
HP:0034430	Abnormal joint physiology	55858	TMEM165	OMIM:614727
HP:0034430	Abnormal joint physiology	10484	SEC23A	OMIM:607812
HP:0034430	Abnormal joint physiology	2720	GLB1	OMIM:253010
HP:0034430	Abnormal joint physiology	9731	CEP104	OMIM:619988
HP:0034430	Abnormal joint physiology	25942	SIN3A	OMIM:613406
HP:0034430	Abnormal joint physiology	25942	SIN3A	ORPHA:94065
HP:0034430	Abnormal joint physiology	8642	DCHS1	OMIM:601390
HP:0034430	Abnormal joint physiology	10522	DEAF1	OMIM:615828
HP:0034430	Abnormal joint physiology	54914	FOCAD	OMIM:619991
HP:0034430	Abnormal joint physiology	2332	FMR1	ORPHA:908
HP:0034430	Abnormal joint physiology	2332	FMR1	ORPHA:449291
HP:0034430	Abnormal joint physiology	2332	FMR1	OMIM:300624
HP:0034430	Abnormal joint physiology	5828	PEX2	OMIM:614867
HP:0034430	Abnormal joint physiology	6804	STX1A	ORPHA:904
HP:0034430	Abnormal joint physiology	7461	CLIP2	ORPHA:904
HP:0034430	Abnormal joint physiology	84277	DNAJC30	ORPHA:904
HP:0034430	Abnormal joint physiology	8468	FKBP6	ORPHA:904
HP:0034430	Abnormal joint physiology	5982	RFC2	ORPHA:904
HP:0034430	Abnormal joint physiology	2969	GTF2I	ORPHA:904
HP:0034430	Abnormal joint physiology	3984	LIMK1	ORPHA:904
HP:0034430	Abnormal joint physiology	9569	GTF2IRD1	ORPHA:904
HP:0034430	Abnormal joint physiology	155382	VPS37D	ORPHA:904
HP:0034430	Abnormal joint physiology	155368	METTL27	ORPHA:904
HP:0034430	Abnormal joint physiology	114049	BUD23	ORPHA:904
HP:0034430	Abnormal joint physiology	7458	EIF4H	ORPHA:904
HP:0034430	Abnormal joint physiology	84163	GTF2IRD2	ORPHA:904
HP:0034430	Abnormal joint physiology	9275	BCL7B	ORPHA:904
HP:0034430	Abnormal joint physiology	26608	TBL2	ORPHA:904
HP:0034430	Abnormal joint physiology	653361	NCF1	ORPHA:904
HP:0034430	Abnormal joint physiology	135886	TMEM270	ORPHA:904
HP:0034430	Abnormal joint physiology	9031	BAZ1B	ORPHA:904
HP:0034430	Abnormal joint physiology	10056	FARSB	OMIM:613658
HP:0034430	Abnormal joint physiology	57459	GATAD2B	ORPHA:363686
HP:0034430	Abnormal joint physiology	5605	MAP2K2	OMIM:615280
HP:0034430	Abnormal joint physiology	715	C1R	OMIM:130080
HP:0034430	Abnormal joint physiology	1742	DLG4	OMIM:618793
HP:0034430	Abnormal joint physiology	3187	HNRNPH1	OMIM:620083
HP:0034430	Abnormal joint physiology	5295	PIK3R1	OMIM:269880
HP:0034430	Abnormal joint physiology	3835	KIF22	OMIM:603546
HP:0034430	Abnormal joint physiology	3835	KIF22	ORPHA:93360
HP:0034430	Abnormal joint physiology	54941	RNF125	OMIM:616260
HP:0034430	Abnormal joint physiology	55084	SOBP	OMIM:613671
HP:0034430	Abnormal joint physiology	10516	FBLN5	ORPHA:90348
HP:0034430	Abnormal joint physiology	10516	FBLN5	ORPHA:90349
HP:0034430	Abnormal joint physiology	10516	FBLN5	OMIM:219100
HP:0034430	Abnormal joint physiology	5832	ALDH18A1	ORPHA:90348
HP:0034430	Abnormal joint physiology	5832	ALDH18A1	OMIM:616603
HP:0034430	Abnormal joint physiology	4052	LTBP1	ORPHA:90349
HP:0034430	Abnormal joint physiology	4052	LTBP1	OMIM:619451
HP:0034430	Abnormal joint physiology	30008	EFEMP2	ORPHA:90349
HP:0034430	Abnormal joint physiology	1107	CHD3	OMIM:618205
HP:0034430	Abnormal joint physiology	4883	NPR3	OMIM:619543
HP:0034430	Abnormal joint physiology	112752	IFT43	OMIM:614099
HP:0034430	Abnormal joint physiology	93587	TRMT10A	OMIM:616033
HP:0034430	Abnormal joint physiology	93587	TRMT10A	ORPHA:391408
HP:0034430	Abnormal joint physiology	2702	GJA5	OMIM:612474
HP:0034430	Abnormal joint physiology	2703	GJA8	OMIM:612474
HP:0034430	Abnormal joint physiology	867	CBL	OMIM:613563
HP:0034430	Abnormal joint physiology	1642	DDB1	OMIM:619426
HP:0034430	Abnormal joint physiology	164	AP1G1	OMIM:619548
HP:0034430	Abnormal joint physiology	81603	TRIM8	OMIM:619428
HP:0034430	Abnormal joint physiology	3720	JARID2	OMIM:620098
HP:0034430	Abnormal joint physiology	5979	RET	OMIM:162300
HP:0034430	Abnormal joint physiology	65992	DDRGK1	OMIM:602557
HP:0034430	Abnormal joint physiology	65992	DDRGK1	ORPHA:93352
HP:0034430	Abnormal joint physiology	5351	PLOD1	OMIM:225400
HP:0034430	Abnormal joint physiology	84627	ZNF469	OMIM:229200
HP:0034430	Abnormal joint physiology	57102	C12orf4	OMIM:618221
HP:0034430	Abnormal joint physiology	92335	STRADA	ORPHA:500533
HP:0034430	Abnormal joint physiology	92335	STRADA	OMIM:611087
HP:0034430	Abnormal joint physiology	79650	USB1	OMIM:604173
HP:0034430	Abnormal joint physiology	10847	SRCAP	OMIM:136140
HP:0034430	Abnormal joint physiology	2623	GATA1	OMIM:190685
HP:0034430	Abnormal joint physiology	29998	BICRA	OMIM:619325
HP:0034430	Abnormal joint physiology	1654	DDX3X	ORPHA:457260
HP:0034430	Abnormal joint physiology	176	ACAN	OMIM:612813
HP:0034430	Abnormal joint physiology	176	ACAN	ORPHA:171866
HP:0034430	Abnormal joint physiology	26224	FBXL3	OMIM:606220
HP:0034430	Abnormal joint physiology	4141	MARS1	OMIM:619692
HP:0034430	Abnormal joint physiology	55603	TENT5A	OMIM:617952
HP:0034430	Abnormal joint physiology	6597	SMARCA4	ORPHA:1465
HP:0034430	Abnormal joint physiology	6659	SOX4	ORPHA:1465
HP:0034430	Abnormal joint physiology	8289	ARID1A	ORPHA:1465
HP:0034430	Abnormal joint physiology	5977	DPF2	ORPHA:1465
HP:0034430	Abnormal joint physiology	6601	SMARCC2	ORPHA:1465
HP:0034430	Abnormal joint physiology	6602	SMARCD1	ORPHA:1465
HP:0034430	Abnormal joint physiology	196528	ARID2	ORPHA:1465
HP:0034430	Abnormal joint physiology	6605	SMARCE1	ORPHA:1465
HP:0034430	Abnormal joint physiology	6664	SOX11	ORPHA:1465
HP:0034430	Abnormal joint physiology	2019	EN1	OMIM:619218
HP:0034430	Abnormal joint physiology	6678	SPARC	OMIM:616507
HP:0034430	Abnormal joint physiology	3759	KCNJ2	OMIM:170390
HP:0034430	Abnormal joint physiology	3759	KCNJ2	ORPHA:37553
HP:0034430	Abnormal joint physiology	55764	IFT122	OMIM:218330
HP:0034430	Abnormal joint physiology	444	ASPH	OMIM:601552
HP:0034430	Abnormal joint physiology	80324	PUS1	OMIM:600462
HP:0034430	Abnormal joint physiology	9509	ADAMTS2	OMIM:225410
HP:0034430	Abnormal joint physiology	372	ARCN1	OMIM:617164
HP:0034430	Abnormal joint physiology	79576	NKAP	OMIM:301039
HP:0034430	Abnormal joint physiology	4015	LOX	OMIM:617168
HP:0034430	Abnormal joint physiology	7403	KDM6A	OMIM:300867
HP:0034430	Abnormal joint physiology	3188	HNRNPH2	OMIM:300986
HP:0034430	Abnormal joint physiology	4041	LRP5	ORPHA:2788
HP:0034430	Abnormal joint physiology	5144	PDE4D	ORPHA:439822
HP:0034430	Abnormal joint physiology	175	AGA	OMIM:208400
HP:0034430	Abnormal joint physiology	79718	TBL1XR1	ORPHA:487825
HP:0034430	Abnormal joint physiology	84265	POLR3GL	OMIM:619234
HP:0034430	Abnormal joint physiology	57003	CCDC47	OMIM:618268
HP:0034430	Abnormal joint physiology	57187	THOC2	OMIM:300957
HP:0034430	Abnormal joint physiology	57061	HYMAI	ORPHA:96191
HP:0034430	Abnormal joint physiology	5325	PLAGL1	ORPHA:96191
HP:0034430	Abnormal joint physiology	2892	GRIA3	ORPHA:364028
HP:0034430	Abnormal joint physiology	10367	MICU1	OMIM:615673
HP:0034430	Abnormal joint physiology	145173	B3GLCT	OMIM:261540
HP:0034430	Abnormal joint physiology	6711	SPTBN1	OMIM:619475
HP:0034430	Abnormal joint physiology	2588	GALNS	OMIM:253000
HP:0034430	Abnormal joint physiology	92002	CCNQ	OMIM:300707
HP:0034430	Abnormal joint physiology	4361	MRE11	ORPHA:251347
HP:0034430	Abnormal joint physiology	9894	TELO2	ORPHA:488642
HP:0034430	Abnormal joint physiology	4841	NONO	OMIM:300967
HP:0034430	Abnormal joint physiology	4841	NONO	ORPHA:466791
HP:0034430	Abnormal joint physiology	84919	PPP1R15B	ORPHA:391408
HP:0034430	Abnormal joint physiology	5879	RAC1	OMIM:617751
HP:0034430	Abnormal joint physiology	5879	RAC1	ORPHA:500159
HP:0034430	Abnormal joint physiology	54187	NANS	OMIM:610442
HP:0034430	Abnormal joint physiology	5076	PAX2	OMIM:120330
HP:0034430	Abnormal joint physiology	1513	CTSK	ORPHA:763
HP:0034430	Abnormal joint physiology	529	ATP6V1E1	OMIM:617402
HP:0034430	Abnormal joint physiology	7042	TGFB2	OMIM:614816
HP:0034430	Abnormal joint physiology	871	SERPINH1	OMIM:613848
HP:0034430	Abnormal joint physiology	3762	KCNJ5	ORPHA:37553
HP:0034430	Abnormal joint physiology	6299	SALL1	OMIM:107480
HP:0034430	Abnormal joint physiology	54888	NSUN2	OMIM:611091
HP:0034430	Abnormal joint physiology	291	SLC25A4	OMIM:615418
HP:0034430	Abnormal joint physiology	4556	MT-TE	ORPHA:2596
HP:0034430	Abnormal joint physiology	2705	GJB1	OMIM:302800
HP:0034430	Abnormal joint physiology	26090	ABHD12	OMIM:612674
HP:0034430	Abnormal joint physiology	729920	CRPPA	ORPHA:370980
HP:0034430	Abnormal joint physiology	1832	DSP	ORPHA:158687
HP:0034430	Abnormal joint physiology	3728	JUP	ORPHA:158687
HP:0034430	Abnormal joint physiology	91179	SCARF2	OMIM:600920
HP:0034430	Abnormal joint physiology	84295	PHF6	ORPHA:127
HP:0034430	Abnormal joint physiology	2273	FHL1	OMIM:300280
HP:0034430	Abnormal joint physiology	4313	MMP2	OMIM:259600
HP:0034430	Abnormal joint physiology	9179	AP4M1	ORPHA:280763
HP:0034430	Abnormal joint physiology	55784	MCTP2	ORPHA:1596
HP:0034430	Abnormal joint physiology	55154	MSTO1	ORPHA:502423
HP:0034430	Abnormal joint physiology	777	CACNA1E	OMIM:618285
HP:0034430	Abnormal joint physiology	56203	LMOD3	OMIM:616165
HP:0034430	Abnormal joint physiology	100128927	ZBTB42	OMIM:616248
HP:0034430	Abnormal joint physiology	283989	TSEN54	OMIM:277470
HP:0034430	Abnormal joint physiology	283989	TSEN54	OMIM:225753
HP:0034430	Abnormal joint physiology	57211	ADGRG6	OMIM:616503
HP:0034430	Abnormal joint physiology	4703	NEB	OMIM:256030
HP:0034430	Abnormal joint physiology	246329	STAC3	ORPHA:168572
HP:0034430	Abnormal joint physiology	4620	MYH2	OMIM:605637
HP:0034430	Abnormal joint physiology	171023	ASXL1	ORPHA:97297
HP:0034430	Abnormal joint physiology	26053	AUTS2	ORPHA:352490
HP:0034430	Abnormal joint physiology	57222	ERGIC1	OMIM:208100
HP:0034430	Abnormal joint physiology	1785	DNM2	OMIM:615368
HP:0034430	Abnormal joint physiology	5081	PAX7	OMIM:618578
HP:0034430	Abnormal joint physiology	7443	VRK1	OMIM:607596
HP:0034430	Abnormal joint physiology	26153	KIF26A	OMIM:620156
HP:0034430	Abnormal joint physiology	1718	DHCR24	OMIM:602398
HP:0034430	Abnormal joint physiology	2673	GFPT1	OMIM:608931
HP:0034430	Abnormal joint physiology	1145	CHRNE	OMIM:608931
HP:0034430	Abnormal joint physiology	5339	PLEC	OMIM:226730
HP:0034430	Abnormal joint physiology	2632	GBE1	OMIM:232500
HP:0034430	Abnormal joint physiology	55627	SMPD4	OMIM:618622
HP:0034430	Abnormal joint physiology	2629	GBA1	OMIM:608013
HP:0034430	Abnormal joint physiology	2629	GBA1	ORPHA:85212
HP:0034430	Abnormal joint physiology	55593	OTUD5	OMIM:301056
HP:0034430	Abnormal joint physiology	58	ACTA1	ORPHA:171436
HP:0034430	Abnormal joint physiology	58	ACTA1	ORPHA:171433
HP:0034430	Abnormal joint physiology	58	ACTA1	ORPHA:171430
HP:0034430	Abnormal joint physiology	58	ACTA1	OMIM:161800
HP:0034430	Abnormal joint physiology	58	ACTA1	ORPHA:171439
HP:0034430	Abnormal joint physiology	10324	KLHL41	ORPHA:171436
HP:0034430	Abnormal joint physiology	10324	KLHL41	ORPHA:171433
HP:0034430	Abnormal joint physiology	10324	KLHL41	ORPHA:171430
HP:0034430	Abnormal joint physiology	10324	KLHL41	OMIM:615731
HP:0034430	Abnormal joint physiology	10324	KLHL41	ORPHA:171439
HP:0034430	Abnormal joint physiology	1073	CFL2	ORPHA:171436
HP:0034430	Abnormal joint physiology	60482	SLC5A7	OMIM:617143
HP:0034430	Abnormal joint physiology	60482	SLC5A7	ORPHA:98914
HP:0034430	Abnormal joint physiology	6536	SLC6A9	OMIM:617301
HP:0034430	Abnormal joint physiology	131377	KLHL40	ORPHA:171430
HP:0034430	Abnormal joint physiology	84162	BLTP1	OMIM:617822
HP:0034430	Abnormal joint physiology	23729	SHPK	ORPHA:440713
HP:0034430	Abnormal joint physiology	79158	GNPTAB	OMIM:252500
HP:0034430	Abnormal joint physiology	2733	GLE1	OMIM:253310
HP:0034430	Abnormal joint physiology	2733	GLE1	OMIM:611890
HP:0034430	Abnormal joint physiology	56975	FAM20C	OMIM:259775
HP:0034430	Abnormal joint physiology	6904	TBCD	ORPHA:496641
HP:0034430	Abnormal joint physiology	6904	TBCD	OMIM:617193
HP:0034430	Abnormal joint physiology	5980	REV3L	ORPHA:570
HP:0034430	Abnormal joint physiology	23129	PLXND1	ORPHA:570
HP:0034430	Abnormal joint physiology	63925	ZNF335	OMIM:615095
HP:0034430	Abnormal joint physiology	1020	CDK5	OMIM:616342
HP:0034430	Abnormal joint physiology	23345	SYNE1	OMIM:618484
HP:0034430	Abnormal joint physiology	23345	SYNE1	ORPHA:319332
HP:0034430	Abnormal joint physiology	113189	CHST14	ORPHA:2953
HP:0034430	Abnormal joint physiology	113189	CHST14	OMIM:601776
HP:0034430	Abnormal joint physiology	29940	DSE	ORPHA:2953
HP:0034430	Abnormal joint physiology	5119	CHMP1A	OMIM:614961
HP:0034430	Abnormal joint physiology	91869	RFT1	ORPHA:244310
HP:0034430	Abnormal joint physiology	9326	ZNHIT3	ORPHA:2836
HP:0034430	Abnormal joint physiology	547	KIF1A	ORPHA:2836
HP:0034430	Abnormal joint physiology	6663	SOX10	ORPHA:163746
HP:0034430	Abnormal joint physiology	6663	SOX10	OMIM:609136
HP:0034430	Abnormal joint physiology	55681	SCYL2	OMIM:618766
HP:0034430	Abnormal joint physiology	51008	ASCC1	OMIM:616867
HP:0034430	Abnormal joint physiology	26276	VPS33B	OMIM:208085
HP:0034430	Abnormal joint physiology	57498	KIDINS220	OMIM:619501
HP:0034430	Abnormal joint physiology	63894	VIPAS39	OMIM:613404
HP:0034430	Abnormal joint physiology	2065	ERBB3	OMIM:243180
HP:0034430	Abnormal joint physiology	2065	ERBB3	OMIM:607598
HP:0034430	Abnormal joint physiology	54551	MAGEL2	OMIM:615547
HP:0034430	Abnormal joint physiology	23265	EXOC7	OMIM:619072
HP:0034430	Abnormal joint physiology	1182	CLCN3	OMIM:619512
HP:0034430	Abnormal joint physiology	5530	PPP3CA	OMIM:618265
HP:0034430	Abnormal joint physiology	1103	CHAT	OMIM:254210
HP:0034430	Abnormal joint physiology	1103	CHAT	ORPHA:98914
HP:0034430	Abnormal joint physiology	11340	EXOSC8	ORPHA:2254
HP:0034430	Abnormal joint physiology	23287	AGTPBP1	ORPHA:2254
HP:0034430	Abnormal joint physiology	51010	EXOSC3	ORPHA:2254
HP:0034430	Abnormal joint physiology	91137	SLC25A46	ORPHA:2254
HP:0034430	Abnormal joint physiology	5352	PLOD2	ORPHA:2771
HP:0034430	Abnormal joint physiology	60681	FKBP10	ORPHA:2771
HP:0034430	Abnormal joint physiology	55165	CEP55	OMIM:236500
HP:0034430	Abnormal joint physiology	3800	KIF5C	OMIM:615282
HP:0034430	Abnormal joint physiology	5297	PI4KA	OMIM:616531
HP:0034430	Abnormal joint physiology	9928	KIF14	OMIM:616258
HP:0034430	Abnormal joint physiology	163175	LGI4	OMIM:617468
HP:0034430	Abnormal joint physiology	4649	MYO9A	ORPHA:98914
HP:0034430	Abnormal joint physiology	1305	COL13A1	ORPHA:98914
HP:0034430	Abnormal joint physiology	6576	SLC25A1	ORPHA:98914
HP:0034430	Abnormal joint physiology	6843	VAMP1	ORPHA:98914
HP:0034430	Abnormal joint physiology	375790	AGRN	ORPHA:98914
HP:0034430	Abnormal joint physiology	127833	SYT2	ORPHA:98914
HP:0034430	Abnormal joint physiology	6616	SNAP25	ORPHA:98914
HP:0034430	Abnormal joint physiology	3911	LAMA5	OMIM:620076
HP:0034430	Abnormal joint physiology	4626	MYH8	OMIM:158300
HP:0034430	Abnormal joint physiology	9319	TRIP13	OMIM:617598
HP:0034430	Abnormal joint physiology	10479	SLC9A6	ORPHA:85278
HP:0034430	Abnormal joint physiology	200205	IBA57	OMIM:615330
HP:0034430	Abnormal joint physiology	84665	MYPN	ORPHA:171439
HP:0034430	Abnormal joint physiology	390594	KBTBD13	ORPHA:171439
HP:0034430	Abnormal joint physiology	10195	ALG3	ORPHA:79321
HP:0034430	Abnormal joint physiology	10195	ALG3	OMIM:601110
HP:0034430	Abnormal joint physiology	91574	MTRFR	ORPHA:320375
HP:0034430	Abnormal joint physiology	54101	RIPK4	OMIM:263650
HP:0034430	Abnormal joint physiology	8216	LZTR1	OMIM:605275
HP:0034430	Abnormal joint physiology	57190	SELENON	ORPHA:324604
HP:0034430	Abnormal joint physiology	4625	MYH7	ORPHA:324604
HP:0034430	Abnormal joint physiology	7273	TTN	ORPHA:324604
HP:0034430	Abnormal joint physiology	6261	RYR1	ORPHA:597
HP:0034430	Abnormal joint physiology	6261	RYR1	ORPHA:424107
HP:0034430	Abnormal joint physiology	23769	FLRT1	ORPHA:320406
HP:0034430	Abnormal joint physiology	64837	KLC2	ORPHA:320406
HP:0034430	Abnormal joint physiology	5393	EXOSC9	OMIM:618065
HP:0034430	Abnormal joint physiology	94005	PIGS	OMIM:618143
HP:0034430	Abnormal joint physiology	55823	VPS11	ORPHA:466934
HP:0034430	Abnormal joint physiology	7051	TGM1	ORPHA:100976
HP:0034430	Abnormal joint physiology	1763	DNA2	ORPHA:352470
HP:0034430	Abnormal joint physiology	23396	PIP5K1C	OMIM:611369
HP:0034430	Abnormal joint physiology	9499	MYOT	ORPHA:98911
HP:0034430	Abnormal joint physiology	3417	IDH1	ORPHA:99646
HP:0034430	Abnormal joint physiology	29925	GMPPB	ORPHA:370968
HP:0034430	Abnormal joint physiology	29954	POMT2	ORPHA:370968
HP:0034430	Abnormal joint physiology	9215	LARGE1	ORPHA:370968
HP:0034430	Abnormal joint physiology	10585	POMT1	ORPHA:370968
HP:0034430	Abnormal joint physiology	5373	PMM2	ORPHA:79318
HP:0034430	Abnormal joint physiology	5981	RFC1	ORPHA:504476
HP:0034430	Abnormal joint physiology	126792	B3GALT6	ORPHA:536467
HP:0034430	Abnormal joint physiology	339855	KY	OMIM:617114
HP:0034430	Abnormal joint physiology	199857	ALG14	OMIM:616227
HP:0034430	Abnormal joint physiology	404672	GTF2H5	ORPHA:33364
HP:0034430	Abnormal joint physiology	833	CARS1	ORPHA:33364
HP:0034430	Abnormal joint physiology	7737	RNF113A	ORPHA:33364
HP:0034430	Abnormal joint physiology	136647	MPLKIP	ORPHA:33364
HP:0034430	Abnormal joint physiology	6897	TARS1	ORPHA:33364
HP:0034430	Abnormal joint physiology	2071	ERCC3	ORPHA:33364
HP:0034430	Abnormal joint physiology	2961	GTF2E2	ORPHA:33364
HP:0034430	Abnormal joint physiology	6509	SLC1A4	ORPHA:447997
HP:0034430	Abnormal joint physiology	23299	BICD2	OMIM:618291
HP:0034430	Abnormal joint physiology	7317	UBA1	OMIM:301830
HP:0034430	Abnormal joint physiology	10535	RNASEH2A	ORPHA:51
HP:0034430	Abnormal joint physiology	84153	RNASEH2C	ORPHA:51
HP:0034430	Abnormal joint physiology	25939	SAMHD1	ORPHA:51
HP:0034430	Abnormal joint physiology	79621	RNASEH2B	ORPHA:51
HP:0034430	Abnormal joint physiology	103	ADAR	ORPHA:51
HP:0034430	Abnormal joint physiology	11277	TREX1	ORPHA:51
HP:0034430	Abnormal joint physiology	100147744	RNU7-1	ORPHA:51
HP:0034430	Abnormal joint physiology	134353	LSM11	ORPHA:51
HP:0034430	Abnormal joint physiology	64135	IFIH1	ORPHA:51
HP:0034430	Abnormal joint physiology	1861	TOR1A	OMIM:128100
HP:0034430	Abnormal joint physiology	9325	TRIP4	ORPHA:486815
HP:0034430	Abnormal joint physiology	6660	SOX5	ORPHA:313892
HP:0034430	Abnormal joint physiology	5727	PTCH1	ORPHA:377
HP:0034430	Abnormal joint physiology	5727	PTCH1	OMIM:109400
HP:0034430	Abnormal joint physiology	8643	PTCH2	ORPHA:377
HP:0034430	Abnormal joint physiology	51684	SUFU	ORPHA:377
HP:0034430	Abnormal joint physiology	79147	FKRP	OMIM:606612
HP:0034430	Abnormal joint physiology	79147	FKRP	OMIM:607155
HP:0034430	Abnormal joint physiology	2335	FN1	ORPHA:93315
HP:0034430	Abnormal joint physiology	54361	WNT4	ORPHA:3109
HP:0034430	Abnormal joint physiology	29123	ANKRD11	ORPHA:2332
HP:0034430	Abnormal joint physiology	29123	ANKRD11	OMIM:148050
HP:0034430	Abnormal joint physiology	284058	KANSL1	OMIM:610443
HP:0034430	Abnormal joint physiology	55191	NADSYN1	OMIM:618845
HP:0034430	Abnormal joint physiology	3081	HGD	OMIM:203500
HP:0034430	Abnormal joint physiology	2317	FLNB	OMIM:272460
HP:0034430	Abnormal joint physiology	2317	FLNB	OMIM:150250
HP:0034430	Abnormal joint physiology	4089	SMAD4	OMIM:139210
HP:0034430	Abnormal joint physiology	4854	NOTCH3	OMIM:130720
HP:0034430	Abnormal joint physiology	22827	PUF60	OMIM:615583
HP:0034430	Abnormal joint physiology	1144	CHRND	OMIM:253290
HP:0034430	Abnormal joint physiology	1134	CHRNA1	OMIM:253290
HP:0034430	Abnormal joint physiology	53834	FGFRL1	OMIM:194190
HP:0034430	Abnormal joint physiology	1487	CTBP1	OMIM:194190
HP:0034430	Abnormal joint physiology	3954	LETM1	OMIM:194190
HP:0034430	Abnormal joint physiology	7468	NSD2	OMIM:194190
HP:0034430	Abnormal joint physiology	10815	CPLX1	OMIM:194190
HP:0034430	Abnormal joint physiology	4990	SIX6	OMIM:206900
HP:0034430	Abnormal joint physiology	6657	SOX2	OMIM:206900
HP:0034430	Abnormal joint physiology	6911	TBX6	OMIM:122600
HP:0034430	Abnormal joint physiology	5888	RAD51	ORPHA:238722
HP:0034430	Abnormal joint physiology	10126	DNAL4	ORPHA:238722
HP:0034430	Abnormal joint physiology	9423	NTN1	ORPHA:238722
HP:0034430	Abnormal joint physiology	1630	DCC	ORPHA:238722
HP:0034430	Abnormal joint physiology	5167	ENPP1	ORPHA:51608
HP:0034430	Abnormal joint physiology	368	ABCC6	ORPHA:51608
HP:0034430	Abnormal joint physiology	1108	CHD4	OMIM:617159
HP:0034430	Abnormal joint physiology	9939	RBM8A	ORPHA:3320
HP:0034430	Abnormal joint physiology	9939	RBM8A	OMIM:274000
HP:0034430	Abnormal joint physiology	55215	FANCI	OMIM:609053
HP:0034430	Abnormal joint physiology	3557	IL1RN	OMIM:612852
HP:0034430	Abnormal joint physiology	51729	WBP11	OMIM:619227
HP:0034430	Abnormal joint physiology	4222	MEOX1	OMIM:214300
HP:0034430	Abnormal joint physiology	6154	RPL26	OMIM:614900
HP:0034430	Abnormal joint physiology	50945	TBX22	OMIM:302905
HP:0034430	Abnormal joint physiology	50945	TBX22	ORPHA:921
HP:0034430	Abnormal joint physiology	29980	DONSON	OMIM:617604
HP:0034430	Abnormal joint physiology	83932	SPRTN	OMIM:616200
HP:0034430	Abnormal joint physiology	84065	TMEM222	OMIM:619470
HP:0034430	Abnormal joint physiology	6628	SNRPB	OMIM:117650
HP:0034430	Abnormal joint physiology	340419	RSPO2	OMIM:618022
HP:0034430	Abnormal joint physiology	5286	PIK3C2A	OMIM:618440
HP:0034430	Abnormal joint physiology	2137	EXTL3	ORPHA:508533
HP:0034430	Abnormal joint physiology	5781	PTPN11	OMIM:151100
HP:0034430	Abnormal joint physiology	56603	CYP26B1	OMIM:614416
HP:0034430	Abnormal joint physiology	6335	SCN9A	ORPHA:33069
HP:0034430	Abnormal joint physiology	6335	SCN9A	ORPHA:36387
HP:0034430	Abnormal joint physiology	6326	SCN2A	ORPHA:33069
HP:0034430	Abnormal joint physiology	6326	SCN2A	ORPHA:36387
HP:0034430	Abnormal joint physiology	2554	GABRA1	ORPHA:33069
HP:0034430	Abnormal joint physiology	6323	SCN1A	ORPHA:33069
HP:0034430	Abnormal joint physiology	6323	SCN1A	ORPHA:36387
HP:0034430	Abnormal joint physiology	6324	SCN1B	ORPHA:33069
HP:0034430	Abnormal joint physiology	6324	SCN1B	ORPHA:36387
HP:0034430	Abnormal joint physiology	57526	PCDH19	ORPHA:33069
HP:0034430	Abnormal joint physiology	2566	GABRG2	ORPHA:33069
HP:0034430	Abnormal joint physiology	2566	GABRG2	ORPHA:36387
HP:0034430	Abnormal joint physiology	112755	STX1B	ORPHA:36387
HP:0034430	Abnormal joint physiology	348980	HCN1	ORPHA:36387
HP:0034430	Abnormal joint physiology	84059	ADGRV1	ORPHA:36387
HP:0034430	Abnormal joint physiology	7476	WNT7A	OMIM:276820
HP:0034430	Abnormal joint physiology	215	ABCD1	ORPHA:139396
HP:0034430	Abnormal joint physiology	11160	ERLIN2	ORPHA:280384
HP:0034430	Abnormal joint physiology	29968	PSAT1	ORPHA:284417
HP:0034430	Abnormal joint physiology	51102	MECR	OMIM:617282
HP:0034430	Abnormal joint physiology	3074	HEXB	ORPHA:309162
HP:0034430	Abnormal joint physiology	170302	ARX	OMIM:300004
HP:0034430	Abnormal joint physiology	8506	CNTNAP1	OMIM:618186
HP:0034430	Abnormal joint physiology	23516	SLC39A14	OMIM:617013
HP:0034430	Abnormal joint physiology	57679	ALS2	OMIM:205100
HP:0034430	Abnormal joint physiology	7170	TPM3	OMIM:255310
HP:0034430	Abnormal joint physiology	2902	GRIN1	OMIM:619814
HP:0034430	Abnormal joint physiology	55131	RBM28	OMIM:612079
HP:0034430	Abnormal joint physiology	2157	F8	ORPHA:169802
HP:0034430	Abnormal joint physiology	51091	SEPSECS	OMIM:613811
HP:0034430	Abnormal joint physiology	819	CAMLG	OMIM:620201
HP:0034430	Abnormal joint physiology	5277	PIGA	OMIM:301072
HP:0034430	Abnormal joint physiology	55768	NGLY1	ORPHA:404454
HP:0034430	Abnormal joint physiology	1308	COL17A1	ORPHA:251393
HP:0034430	Abnormal joint physiology	3691	ITGB4	ORPHA:251393
HP:0034430	Abnormal joint physiology	4784	NFIX	OMIM:602535
HP:0034430	Abnormal joint physiology	7138	TNNT1	OMIM:605355
HP:0034430	Abnormal joint physiology	10290	SPEG	ORPHA:169186
HP:0034430	Abnormal joint physiology	10290	SPEG	OMIM:615959
HP:0034430	Abnormal joint physiology	2617	GARS1	OMIM:619042
HP:0034430	Abnormal joint physiology	54681	P4HTM	OMIM:618493
HP:0034430	Abnormal joint physiology	7547	ZIC3	OMIM:306955
HP:0034430	Abnormal joint physiology	10992	SF3B2	OMIM:164210
HP:0034430	Abnormal joint physiology	1280	COL2A1	ORPHA:485
HP:0034430	Abnormal joint physiology	55252	ASXL2	OMIM:617190
HP:0034430	Abnormal joint physiology	27125	AFF4	ORPHA:444077
HP:0034430	Abnormal joint physiology	27125	AFF4	OMIM:616368
HP:0034430	Abnormal joint physiology	55870	ASH1L	OMIM:617796
HP:0034430	Abnormal joint physiology	1009	CDH11	OMIM:211380
HP:0034430	Abnormal joint physiology	7291	TWIST1	ORPHA:794
HP:0034430	Abnormal joint physiology	3209	HOXA13	ORPHA:2438
HP:0034430	Abnormal joint physiology	5566	PRKACA	ORPHA:289
HP:0034430	Abnormal joint physiology	5567	PRKACB	ORPHA:289
HP:0034430	Abnormal joint physiology	2735	GLI1	ORPHA:289
HP:0034430	Abnormal joint physiology	2121	EVC	ORPHA:289
HP:0034430	Abnormal joint physiology	51626	DYNC2LI1	ORPHA:289
HP:0034430	Abnormal joint physiology	132884	EVC2	ORPHA:289
HP:0034430	Abnormal joint physiology	4038	LRP4	ORPHA:3258
HP:0034430	Abnormal joint physiology	29920	PYCR2	ORPHA:481152
HP:0034430	Abnormal joint physiology	11342	RNF13	ORPHA:544503
HP:0034430	Abnormal joint physiology	3373	HYAL1	OMIM:601492
HP:0034430	Abnormal joint physiology	654	BMP6	ORPHA:465508
HP:0034430	Abnormal joint physiology	3077	HFE	ORPHA:465508
HP:0034430	Abnormal joint physiology	9401	RECQL4	OMIM:266280
HP:0034430	Abnormal joint physiology	7020	TFAP2A	OMIM:113620
HP:0034430	Abnormal joint physiology	51082	POLR1D	OMIM:613717
HP:0034430	Abnormal joint physiology	23389	MED13L	ORPHA:369891
HP:0034430	Abnormal joint physiology	55628	ZNF407	OMIM:619557
HP:0034430	Abnormal joint physiology	23219	FBXO28	OMIM:619777
HP:0034430	Abnormal joint physiology	1281	COL3A1	OMIM:130050
HP:0034430	Abnormal joint physiology	89970	RSPRY1	ORPHA:457395
HP:0034430	Abnormal joint physiology	23111	SPART	OMIM:275900
HP:0034430	Abnormal joint physiology	6651	SON	ORPHA:500150
HP:0034430	Abnormal joint physiology	1123	CHN1	ORPHA:233
HP:0034430	Abnormal joint physiology	9573	GDF3	ORPHA:2345
HP:0034430	Abnormal joint physiology	168667	BMPER	ORPHA:66637
HP:0034430	Abnormal joint physiology	81839	VANGL1	ORPHA:3027
HP:0034430	Abnormal joint physiology	80199	FUZ	ORPHA:3027
HP:0034430	Abnormal joint physiology	3798	KIF5A	ORPHA:100991
HP:0034430	Abnormal joint physiology	34	ACADM	ORPHA:42
HP:0034430	Abnormal joint physiology	4897	NRCAM	OMIM:619833
HP:0034430	Abnormal joint physiology	9871	SEC24D	ORPHA:2050
HP:0034430	Abnormal joint physiology	5034	P4HB	ORPHA:2050
HP:0034430	Abnormal joint physiology	23363	OBSL1	ORPHA:2616
HP:0034430	Abnormal joint physiology	23118	TAB2	ORPHA:228410
HP:0034430	Abnormal joint physiology	5744	PTHLH	ORPHA:93387
HP:0034430	Abnormal joint physiology	51098	IFT52	ORPHA:1515
HP:0034430	Abnormal joint physiology	137492	VPS37A	ORPHA:319199
HP:0034430	Abnormal joint physiology	137492	VPS37A	OMIM:614898
HP:0034430	Abnormal joint physiology	1312	COMT	ORPHA:567
HP:0034430	Abnormal joint physiology	221037	JMJD1C	ORPHA:567
HP:0034430	Abnormal joint physiology	2812	GP1BB	ORPHA:567
HP:0034430	Abnormal joint physiology	6239	RREB1	ORPHA:567
HP:0034430	Abnormal joint physiology	6899	TBX1	ORPHA:567
HP:0034430	Abnormal joint physiology	7290	HIRA	ORPHA:567
HP:0034430	Abnormal joint physiology	9632	SEC24C	ORPHA:567
HP:0034430	Abnormal joint physiology	7353	UFD1	ORPHA:567
HP:0034430	Abnormal joint physiology	421	ARVCF	ORPHA:567
HP:0034430	Abnormal joint physiology	1501	CTNND2	ORPHA:281
HP:0034430	Abnormal joint physiology	9037	SEMA5A	ORPHA:281
HP:0034430	Abnormal joint physiology	5062	PAK2	ORPHA:1571
HP:0034430	Abnormal joint physiology	64132	XYLT2	ORPHA:85194
HP:0034430	Abnormal joint physiology	3981	LIG4	ORPHA:235
HP:0034430	Abnormal joint physiology	6928	HNF1B	ORPHA:93111
HP:0034430	Abnormal joint physiology	8936	WASF1	OMIM:618707
HP:0034430	Abnormal joint physiology	545	ATR	ORPHA:808
HP:0034430	Abnormal joint physiology	1062	CENPE	ORPHA:808
HP:0034430	Abnormal joint physiology	5932	RBBP8	ORPHA:808
HP:0034430	Abnormal joint physiology	79902	NUP85	ORPHA:808
HP:0034430	Abnormal joint physiology	84126	ATRIP	ORPHA:808
HP:0034430	Abnormal joint physiology	55835	CENPJ	ORPHA:808
HP:0034430	Abnormal joint physiology	10293	TRAIP	ORPHA:808
HP:0034430	Abnormal joint physiology	22995	CEP152	ORPHA:808
HP:0034430	Abnormal joint physiology	10733	PLK4	ORPHA:808
HP:0034430	Abnormal joint physiology	22800	RRAS2	ORPHA:648
HP:0034430	Abnormal joint physiology	6016	RIT1	ORPHA:648
HP:0034430	Abnormal joint physiology	6237	RRAS	ORPHA:648
HP:0034430	Abnormal joint physiology	5894	RAF1	ORPHA:648
HP:0034430	Abnormal joint physiology	22808	MRAS	ORPHA:648
HP:0034430	Abnormal joint physiology	4893	NRAS	ORPHA:648
HP:0034430	Abnormal joint physiology	6654	SOS1	ORPHA:648
HP:0034430	Abnormal joint physiology	6655	SOS2	ORPHA:648
HP:0034430	Abnormal joint physiology	5922	RASA2	ORPHA:648
HP:0034430	Abnormal joint physiology	1297	COL9A1	ORPHA:250984
HP:0034430	Abnormal joint physiology	1298	COL9A2	ORPHA:250984
HP:0034430	Abnormal joint physiology	84695	LOXL3	ORPHA:250984
HP:0034430	Abnormal joint physiology	84340	GFM2	ORPHA:565624
HP:0034430	Abnormal joint physiology	55906	ZC4H2	ORPHA:3454
HP:0034430	Abnormal joint physiology	55906	ZC4H2	OMIM:314580
HP:0034430	Abnormal joint physiology	60386	SLC25A19	OMIM:613710
HP:0034430	Abnormal joint physiology	2521	FUS	ORPHA:300605
HP:0034430	Abnormal joint physiology	80208	SPG11	ORPHA:300605
HP:0034430	Abnormal joint physiology	10280	SIGMAR1	ORPHA:300605
HP:0034430	Abnormal joint physiology	10558	SPTLC1	ORPHA:300605
HP:0034430	Abnormal joint physiology	80232	WDR26	ORPHA:513456
HP:0034430	Abnormal joint physiology	6134	RPL10	ORPHA:459070
HP:0034430	Abnormal joint physiology	3767	KCNJ11	ORPHA:99885
HP:0034430	Abnormal joint physiology	6774	STAT3	ORPHA:99885
HP:0034430	Abnormal joint physiology	2645	GCK	ORPHA:99885
HP:0034430	Abnormal joint physiology	3651	PDX1	ORPHA:99885
HP:0034430	Abnormal joint physiology	6833	ABCC8	ORPHA:99885
HP:0034430	Abnormal joint physiology	3630	INS	ORPHA:99885
HP:0034430	Abnormal joint physiology	8818	DPM2	ORPHA:329178
HP:0034430	Abnormal joint physiology	1193	CLIC2	ORPHA:324410
HP:0034430	Abnormal joint physiology	5830	PEX5	OMIM:616716
HP:0034430	Abnormal joint physiology	23556	PIGN	ORPHA:280633
HP:0034430	Abnormal joint physiology	8823	FGF16	OMIM:309630
HP:0034430	Abnormal joint physiology	9775	EIF4A3	OMIM:268305
HP:0034430	Abnormal joint physiology	2643	GCH1	ORPHA:98808
HP:0034430	Abnormal joint physiology	4929	NR4A2	ORPHA:98808
HP:0034430	Abnormal joint physiology	3615	IMPDH2	ORPHA:98808
HP:0034430	Abnormal joint physiology	6857	SYT1	ORPHA:522077
HP:0034430	Abnormal joint physiology	157570	ESCO2	ORPHA:3103
HP:0034430	Abnormal joint physiology	22880	MORC2	ORPHA:466768
HP:0034430	Abnormal joint physiology	825	CAPN3	ORPHA:267
HP:0034430	Abnormal joint physiology	113179	ADAT3	ORPHA:363528
HP:0034430	Abnormal joint physiology	7043	TGFB3	OMIM:615582
HP:0034430	Abnormal joint physiology	2737	GLI3	ORPHA:93322
HP:0034430	Abnormal joint physiology	5447	POR	ORPHA:95699
HP:0034430	Abnormal joint physiology	57167	SALL4	OMIM:147750
HP:0034430	Abnormal joint physiology	54332	GDAP1	ORPHA:99948
HP:0034430	Abnormal joint physiology	2254	FGF9	OMIM:612961
HP:0034430	Abnormal joint physiology	7528	YY1	ORPHA:506358
HP:0034430	Abnormal joint physiology	7528	YY1	OMIM:617557
HP:0034430	Abnormal joint physiology	22861	NLRP1	OMIM:615225
HP:0034430	Abnormal joint physiology	9987	HNRNPDL	OMIM:609115
HP:0034430	Abnormal joint physiology	8292	COLQ	ORPHA:98915
HP:0034430	Abnormal joint physiology	3913	LAMB2	ORPHA:98915
HP:0034430	Abnormal joint physiology	4976	OPA1	OMIM:210000
HP:0034430	Abnormal joint physiology	4921	DDR2	OMIM:271665
HP:0034430	Abnormal joint physiology	23141	ANKLE2	OMIM:616681
HP:0034430	Abnormal joint physiology	6840	SVIL	OMIM:619040
HP:0034430	Abnormal joint physiology	3714	JAG2	OMIM:619566
HP:0034430	Abnormal joint physiology	51506	UFC1	OMIM:618076
HP:0034430	Abnormal joint physiology	23321	TRIM2	OMIM:615490
HP:0034430	Abnormal joint physiology	79644	SRD5A3	OMIM:612713
HP:0034430	Abnormal joint physiology	9531	BAG3	OMIM:612954
HP:0034430	Abnormal joint physiology	9653	HS2ST1	OMIM:619194
HP:0034430	Abnormal joint physiology	10804	GJB6	ORPHA:477
HP:0034430	Abnormal joint physiology	2706	GJB2	ORPHA:477
HP:0034430	Abnormal joint physiology	2706	GJB2	OMIM:148210
HP:0034430	Abnormal joint physiology	285175	UNC80	ORPHA:371364
HP:0034430	Abnormal joint physiology	84992	PIGY	OMIM:616809
HP:0034430	Abnormal joint physiology	10613	ERLIN1	ORPHA:401785
HP:0034430	Abnormal joint physiology	2222	FDFT1	OMIM:618156
HP:0034430	Abnormal joint physiology	83636	C19orf12	OMIM:615043
HP:0034430	Abnormal joint physiology	4773	NFATC2	OMIM:620232
HP:0034430	Abnormal joint physiology	1376	CPT2	OMIM:608836
HP:0034430	Abnormal joint physiology	5296	PIK3R2	OMIM:603387
HP:0034430	Abnormal joint physiology	23387	SIK3	OMIM:618162
HP:0034430	Abnormal joint physiology	6392	SDHD	ORPHA:3208
HP:0034430	Abnormal joint physiology	644096	SDHAF1	ORPHA:3208
HP:0034430	Abnormal joint physiology	8449	DHX16	OMIM:618733
HP:0034430	Abnormal joint physiology	7415	VCP	ORPHA:435387
HP:0034430	Abnormal joint physiology	2318	FLNC	ORPHA:63273
HP:0034430	Abnormal joint physiology	4233	MET	OMIM:620019
HP:0034430	Abnormal joint physiology	4091	SMAD6	OMIM:179300
HP:0034430	Abnormal joint physiology	10584	COLEC10	ORPHA:293843
HP:0034430	Abnormal joint physiology	5648	MASP1	ORPHA:293843
HP:0034430	Abnormal joint physiology	78989	COLEC11	ORPHA:293843
HP:0034430	Abnormal joint physiology	2122	MECOM	OMIM:616738
HP:0034430	Abnormal joint physiology	3207	HOXA11	OMIM:605432
HP:0034430	Abnormal joint physiology	1859	DYRK1A	ORPHA:464311
HP:0034430	Abnormal joint physiology	1605	DAG1	OMIM:613818
HP:0034430	Abnormal joint physiology	1605	DAG1	ORPHA:280333
HP:0034430	Abnormal joint physiology	55958	KLHL9	ORPHA:399081
HP:0034430	Abnormal joint physiology	84876	ORAI1	OMIM:615883
HP:0034430	Abnormal joint physiology	87178	PNPT1	ORPHA:319514
HP:0034430	Abnormal joint physiology	210	ALAD	ORPHA:100924
HP:0034430	Abnormal joint physiology	513	ATP5F1D	OMIM:618120
HP:0034430	Abnormal joint physiology	57731	SPTBN4	OMIM:617519
HP:0034430	Abnormal joint physiology	497661	C18orf32	OMIM:619985
HP:0034430	Abnormal joint physiology	7407	VARS1	OMIM:617802
HP:0034430	Abnormal joint physiology	9896	FIG4	OMIM:611228
HP:0034430	Abnormal joint physiology	6812	STXBP1	ORPHA:495818
HP:0034430	Abnormal joint physiology	145258	GSC	OMIM:602471
HP:0034430	Abnormal joint physiology	65055	REEP1	OMIM:620011
HP:0034430	Abnormal joint physiology	2263	FGFR2	OMIM:123150
HP:0034430	Abnormal joint physiology	51305	KCNK9	ORPHA:166108
HP:0034430	Abnormal joint physiology	4312	MMP1	ORPHA:79408
HP:0034430	Abnormal joint physiology	1294	COL7A1	ORPHA:79408
HP:0034430	Abnormal joint physiology	2972	BRF1	ORPHA:444072
HP:0034430	Abnormal joint physiology	23259	DDHD2	ORPHA:320380
HP:0034430	Abnormal joint physiology	54828	BCAS3	OMIM:619641
HP:0034430	Abnormal joint physiology	51651	PTRH2	ORPHA:456312
HP:0034430	Abnormal joint physiology	1235	CCR6	ORPHA:220402
HP:0034430	Abnormal joint physiology	79932	KIAA0319L	ORPHA:220402
HP:0034430	Abnormal joint physiology	1490	CCN2	ORPHA:220402
HP:0034430	Abnormal joint physiology	3663	IRF5	ORPHA:220402
HP:0034430	Abnormal joint physiology	857	CAV1	ORPHA:220402
HP:0034430	Abnormal joint physiology	3123	HLA-DRB1	ORPHA:220402
HP:0034430	Abnormal joint physiology	1161	ERCC8	ORPHA:90321
HP:0034430	Abnormal joint physiology	2072	ERCC4	ORPHA:90321
HP:0034430	Abnormal joint physiology	392255	GDF6	OMIM:617898
HP:0034430	Abnormal joint physiology	658	BMPR1B	ORPHA:2098
HP:0034430	Abnormal joint physiology	658	BMPR1B	ORPHA:2639
HP:0034430	Abnormal joint physiology	658	BMPR1B	OMIM:609441
HP:0034430	Abnormal joint physiology	9496	TBX4	OMIM:147891
HP:0034430	Abnormal joint physiology	8195	MKKS	ORPHA:2473
HP:0034430	Abnormal joint physiology	8481	OFD1	ORPHA:2750
HP:0034430	Abnormal joint physiology	64093	SMOC1	ORPHA:1106
HP:0034430	Abnormal joint physiology	538	ATP7A	ORPHA:565
HP:0034430	Abnormal joint physiology	2192	FBLN1	OMIM:608180
HP:0034430	Abnormal joint physiology	5745	PTH1R	ORPHA:79106
HP:0034430	Abnormal joint physiology	2131	EXT1	ORPHA:321
HP:0034430	Abnormal joint physiology	2132	EXT2	ORPHA:321
HP:0034430	Abnormal joint physiology	8291	DYSF	ORPHA:268
HP:0034430	Abnormal joint physiology	1311	COMP	OMIM:132400
HP:0034430	Abnormal joint physiology	123606	NIPA1	ORPHA:100988
HP:0034430	Abnormal joint physiology	10082	GPC6	OMIM:258315
HP:0034430	Abnormal joint physiology	4148	MATN3	ORPHA:93311
HP:0034430	Abnormal joint physiology	10664	CTCF	ORPHA:363611
HP:0034430	Abnormal joint physiology	219854	TMEM218	OMIM:619562
HP:0034430	Abnormal joint physiology	23291	FBXW11	OMIM:618914
HP:0034430	Abnormal joint physiology	9757	KMT2B	OMIM:619934
HP:0034430	Abnormal joint physiology	10765	KDM5B	OMIM:618109
HP:0034430	Abnormal joint physiology	10093	ARPC4	OMIM:620141
HP:0034430	Abnormal joint physiology	7021	TFAP2B	OMIM:169100
HP:0034430	Abnormal joint physiology	6909	TBX2	OMIM:618223
HP:0034430	Abnormal joint physiology	80816	ASXL3	OMIM:615485
HP:0034430	Abnormal joint physiology	81857	MED25	ORPHA:464738
HP:0034430	Abnormal joint physiology	7390	UROS	OMIM:263700
HP:0034430	Abnormal joint physiology	57449	PLEKHG5	OMIM:611067
HP:0034430	Abnormal joint physiology	5376	PMP22	ORPHA:90658
HP:0034430	Abnormal joint physiology	1277	COL1A1	OMIM:130060
HP:0034430	Abnormal joint physiology	23327	NEDD4L	OMIM:617201
HP:0034430	Abnormal joint physiology	8985	PLOD3	OMIM:612394
HP:0034430	Abnormal joint physiology	4010	LMX1B	ORPHA:2614
HP:0034430	Abnormal joint physiology	6662	SOX9	OMIM:114290
HP:0034430	Abnormal joint physiology	4297	KMT2A	OMIM:605130
HP:0034430	Abnormal joint physiology	64682	ANAPC1	ORPHA:221008
HP:0034430	Abnormal joint physiology	7545	ZIC1	ORPHA:35099
HP:0034430	Abnormal joint physiology	23261	CAMTA1	OMIM:614756
HP:0034430	Abnormal joint physiology	7337	UBE3A	ORPHA:98794
HP:0034430	Abnormal joint physiology	4948	OCA2	ORPHA:98794
HP:0034430	Abnormal joint physiology	3008	H1-4	OMIM:617537
HP:0034430	Abnormal joint physiology	9382	COG1	OMIM:611209
HP:0034430	Abnormal joint physiology	57231	SNX14	ORPHA:397709
HP:0034430	Abnormal joint physiology	57231	SNX14	OMIM:616354
HP:0034430	Abnormal joint physiology	56992	KIF15	ORPHA:261323
HP:0034430	Abnormal joint physiology	57589	RIC1	OMIM:618761
HP:0034430	Abnormal joint physiology	80776	B9D2	OMIM:614175
HP:0034430	Abnormal joint physiology	1954	MEGF8	OMIM:614976
HP:0034430	Abnormal joint physiology	79053	ALG8	OMIM:608104
HP:0034430	Abnormal joint physiology	79053	ALG8	ORPHA:79325
HP:0034430	Abnormal joint physiology	26227	PHGDH	OMIM:256520
HP:0034430	Abnormal joint physiology	1001	CDH3	OMIM:225280
HP:0034430	Abnormal joint physiology	79228	THOC6	ORPHA:363444
HP:0034430	Abnormal joint physiology	8626	TP63	OMIM:603543
HP:0034430	Abnormal joint physiology	8813	DPM1	OMIM:608799
HP:0034430	Abnormal joint physiology	8813	DPM1	ORPHA:79322
HP:0034430	Abnormal joint physiology	79087	ALG12	ORPHA:79324
HP:0034430	Abnormal joint physiology	26100	WIPI2	OMIM:618453
HP:0034430	Abnormal joint physiology	9427	ECEL1	OMIM:615065
HP:0034430	Abnormal joint physiology	1801	DPH1	ORPHA:459061
HP:0034430	Abnormal joint physiology	81848	SPRY4	ORPHA:432
HP:0034430	Abnormal joint physiology	128674	PROKR2	ORPHA:432
HP:0034430	Abnormal joint physiology	60675	PROK2	ORPHA:432
HP:0034430	Abnormal joint physiology	55636	CHD7	ORPHA:432
HP:0034430	Abnormal joint physiology	6870	TACR3	ORPHA:432
HP:0034430	Abnormal joint physiology	1848	DUSP6	ORPHA:432
HP:0034430	Abnormal joint physiology	26012	NSMF	ORPHA:432
HP:0034430	Abnormal joint physiology	55717	WDR11	ORPHA:432
HP:0034430	Abnormal joint physiology	9394	HS6ST1	ORPHA:432
HP:0034430	Abnormal joint physiology	2796	GNRH1	ORPHA:432
HP:0034430	Abnormal joint physiology	2798	GNRHR	ORPHA:432
HP:0034430	Abnormal joint physiology	84634	KISS1R	ORPHA:432
HP:0034430	Abnormal joint physiology	6866	TAC3	ORPHA:432
HP:0034430	Abnormal joint physiology	8822	FGF17	ORPHA:432
HP:0034430	Abnormal joint physiology	3814	KISS1	ORPHA:432
HP:0034430	Abnormal joint physiology	9158	FIBP	ORPHA:500095
HP:0034430	Abnormal joint physiology	28982	FLVCR1	ORPHA:88628
HP:0034430	Abnormal joint physiology	28982	FLVCR1	OMIM:609033
HP:0034430	Abnormal joint physiology	56915	EXOSC5	OMIM:619576
HP:0034430	Abnormal joint physiology	92255	LMBRD2	OMIM:619694
HP:0034430	Abnormal joint physiology	23511	NUP188	OMIM:618804
HP:0034430	Abnormal joint physiology	10943	MSL3	OMIM:301032
HP:0034430	Abnormal joint physiology	55975	KLHL7	OMIM:617055
HP:0034430	Abnormal joint physiology	51715	RAB23	OMIM:201000
HP:0034430	Abnormal joint physiology	90416	CCDC32	OMIM:619123
HP:0034430	Abnormal joint physiology	139285	AMER1	OMIM:300373
HP:0034430	Abnormal joint physiology	10084	PQBP1	OMIM:309500
HP:0034430	Abnormal joint physiology	9487	PIGL	OMIM:280000
HP:0034430	Abnormal joint physiology	3868	KRT16	ORPHA:2199
HP:0034430	Abnormal joint physiology	3857	KRT9	ORPHA:2199
HP:0034430	Abnormal joint physiology	6913	TBX15	OMIM:260660
HP:0034430	Abnormal joint physiology	2036	EPB41L1	OMIM:614257
HP:0034430	Abnormal joint physiology	523	ATP6V1A	OMIM:617403
HP:0034430	Abnormal joint physiology	91754	NEK9	OMIM:617022
HP:0034430	Abnormal joint physiology	4722	NDUFS3	OMIM:618230
HP:0034430	Abnormal joint physiology	22943	DKK1	ORPHA:268882
HP:0034430	Abnormal joint physiology	54820	NDE1	ORPHA:2177
HP:0034430	Abnormal joint physiology	26040	SETBP1	ORPHA:798
HP:0034430	Abnormal joint physiology	8398	PLA2G6	ORPHA:199351
HP:0034430	Abnormal joint physiology	6399	TRAPPC2	ORPHA:93284
HP:0034430	Abnormal joint physiology	1836	SLC26A2	ORPHA:93307
HP:0034430	Abnormal joint physiology	64065	PERP	OMIM:619208
HP:0034430	Abnormal joint physiology	2773	GNAI3	OMIM:602483
HP:0034430	Abnormal joint physiology	1272	CNTN1	OMIM:612540
HP:0034430	Abnormal joint physiology	64423	INF2	OMIM:614455
HP:0034430	Abnormal joint physiology	10397	NDRG1	OMIM:601455
HP:0034430	Abnormal joint physiology	3315	HSPB1	OMIM:606595
HP:0034430	Abnormal joint physiology	8566	PDXK	OMIM:618511
HP:0034430	Abnormal joint physiology	3098	HK1	OMIM:605285
HP:0034430	Abnormal joint physiology	3481	IGF2	OMIM:616489
HP:0034430	Abnormal joint physiology	57038	RARS2	OMIM:611523
HP:0034430	Abnormal joint physiology	80347	COASY	OMIM:618266
HP:0034430	Abnormal joint physiology	197258	FCSK	OMIM:618324
HP:0034430	Abnormal joint physiology	2530	FUT8	OMIM:618005
HP:0034430	Abnormal joint physiology	11019	LIAS	OMIM:614462
HP:0034430	Abnormal joint physiology	54892	NCAPG2	OMIM:618460
HP:0034430	Abnormal joint physiology	51501	HIKESHI	OMIM:616881
HP:0034430	Abnormal joint physiology	9255	AIMP1	OMIM:260600
HP:0034430	Abnormal joint physiology	56270	WDR45B	OMIM:617977
HP:0034430	Abnormal joint physiology	5111	PCNA	OMIM:615919
HP:0034430	Abnormal joint physiology	5424	POLD1	OMIM:615381
HP:0034430	Abnormal joint physiology	58497	PRUNE1	OMIM:617481
HP:0034430	Abnormal joint physiology	65993	MRPS34	OMIM:617664
HP:0034430	Abnormal joint physiology	55331	ACER3	OMIM:617762
HP:0034430	Abnormal joint physiology	55640	FLVCR2	OMIM:225790
HP:0034430	Abnormal joint physiology	2893	GRIA4	OMIM:617864
HP:0034430	Abnormal joint physiology	221927	BRAT1	OMIM:614498
HP:0034430	Abnormal joint physiology	6785	ELOVL4	OMIM:614457
HP:0034430	Abnormal joint physiology	23534	TNPO3	OMIM:608423
HP:0034430	Abnormal joint physiology	374393	FAM111B	OMIM:615704
HP:0034430	Abnormal joint physiology	4210	MEFV	ORPHA:329967
HP:0034430	Abnormal joint physiology	7132	TNFRSF1A	ORPHA:329967
HP:0034430	Abnormal joint physiology	5116	PCNT	OMIM:210720
HP:0034430	Abnormal joint physiology	22856	CHSY1	ORPHA:363417
HP:0034430	Abnormal joint physiology	5528	PPP2R5D	ORPHA:457279
HP:0034430	Abnormal joint physiology	2218	FKTN	ORPHA:272
HP:0034430	Abnormal joint physiology	4621	MYH3	ORPHA:2053
HP:0034430	Abnormal joint physiology	4621	MYH3	ORPHA:1146
HP:0034430	Abnormal joint physiology	4621	MYH3	ORPHA:2990
HP:0034430	Abnormal joint physiology	259232	NALCN	ORPHA:2053
HP:0034430	Abnormal joint physiology	259232	NALCN	ORPHA:1146
HP:0034430	Abnormal joint physiology	8294	H4C9	OMIM:619951
HP:0034430	Abnormal joint physiology	3094	HINT1	ORPHA:324442
HP:0034430	Abnormal joint physiology	8838	CCN6	OMIM:208230
HP:0034430	Abnormal joint physiology	1947	EFNB1	ORPHA:1520
HP:0034430	Abnormal joint physiology	7355	SLC35A2	ORPHA:356961
HP:0034430	Abnormal joint physiology	118429	ANTXR2	ORPHA:2176
HP:0034430	Abnormal joint physiology	5077	PAX3	ORPHA:1529
HP:0034430	Abnormal joint physiology	5077	PAX3	ORPHA:896
HP:0034430	Abnormal joint physiology	5077	PAX3	OMIM:148820
HP:0034430	Abnormal joint physiology	2316	FLNA	OMIM:300244
HP:0034430	Abnormal joint physiology	2316	FLNA	ORPHA:90652
HP:0034430	Abnormal joint physiology	2316	FLNA	ORPHA:1826
HP:0034430	Abnormal joint physiology	2316	FLNA	OMIM:305620
HP:0034430	Abnormal joint physiology	9241	NOG	ORPHA:3250
HP:0034430	Abnormal joint physiology	8200	GDF5	ORPHA:3250
HP:0034430	Abnormal joint physiology	54968	TMEM70	ORPHA:1194
HP:0034430	Abnormal joint physiology	613	BCR	ORPHA:261330
HP:0034430	Abnormal joint physiology	1399	CRKL	ORPHA:261330
HP:0034430	Abnormal joint physiology	5594	MAPK1	ORPHA:261330
HP:0034430	Abnormal joint physiology	84466	MEGF10	OMIM:614399
HP:0034430	Abnormal joint physiology	72	ACTG2	ORPHA:2604
HP:0034430	Abnormal joint physiology	10216	PRG4	ORPHA:2848
HP:0034430	Abnormal joint physiology	3508	IGHMBP2	OMIM:604320
HP:0034430	Abnormal joint physiology	6926	TBX3	ORPHA:3138
HP:0034430	Abnormal joint physiology	51360	MBTPS2	ORPHA:2273
HP:0034430	Abnormal joint physiology	10381	TUBB3	OMIM:600638
HP:0034430	Abnormal joint physiology	9469	CHST3	OMIM:143095
HP:0034430	Abnormal joint physiology	3423	IDS	ORPHA:217085
HP:0034430	Abnormal joint physiology	3423	IDS	ORPHA:217093
HP:0034430	Abnormal joint physiology	64359	NXN	ORPHA:1507
HP:0034430	Abnormal joint physiology	4920	ROR2	ORPHA:1507
HP:0034430	Abnormal joint physiology	2697	GJA1	ORPHA:2710
HP:0034430	Abnormal joint physiology	2697	GJA1	ORPHA:93404
HP:0034430	Abnormal joint physiology	64127	NOD2	OMIM:186580
HP:0034430	Abnormal joint physiology	64127	NOD2	ORPHA:90340
HP:0034430	Abnormal joint physiology	6999	TDO2	OMIM:600627
HP:0034430	Abnormal joint physiology	1301	COL11A1	ORPHA:2021
HP:0034430	Abnormal joint physiology	1302	COL11A2	ORPHA:2021
HP:0034430	Abnormal joint physiology	10716	TBR1	ORPHA:1617
HP:0034430	Abnormal joint physiology	3425	IDUA	OMIM:607015
HP:0034430	Abnormal joint physiology	3425	IDUA	ORPHA:93473
HP:0034430	Abnormal joint physiology	4593	MUSK	OMIM:208150
HP:0034430	Abnormal joint physiology	4593	MUSK	ORPHA:994
HP:0034430	Abnormal joint physiology	63895	PIEZO2	OMIM:114300
HP:0034430	Abnormal joint physiology	63895	PIEZO2	ORPHA:376
HP:0034430	Abnormal joint physiology	63895	PIEZO2	ORPHA:2461
HP:0034430	Abnormal joint physiology	56006	SMG9	OMIM:616920
HP:0034430	Abnormal joint physiology	1857	DVL3	ORPHA:3107
HP:0034430	Abnormal joint physiology	7474	WNT5A	ORPHA:3107
HP:0034430	Abnormal joint physiology	1855	DVL1	ORPHA:3107
HP:0034430	Abnormal joint physiology	2535	FZD2	ORPHA:3107
HP:0034430	Abnormal joint physiology	9508	ADAMTS3	ORPHA:2136
HP:0034430	Abnormal joint physiology	147372	CCBE1	ORPHA:2136
HP:0034430	Abnormal joint physiology	79633	FAT4	ORPHA:2136
HP:0034430	Abnormal joint physiology	5189	PEX1	ORPHA:3220
HP:0034430	Abnormal joint physiology	5190	PEX6	ORPHA:3220
HP:0034430	Abnormal joint physiology	5590	PRKCZ	ORPHA:1606
HP:0034430	Abnormal joint physiology	2563	GABRD	ORPHA:1606
HP:0034430	Abnormal joint physiology	23013	SPEN	ORPHA:1606
HP:0034430	Abnormal joint physiology	8510	MMP23B	ORPHA:1606
HP:0034430	Abnormal joint physiology	7798	LUZP1	ORPHA:1606
HP:0034430	Abnormal joint physiology	6497	SKI	ORPHA:1606
HP:0034430	Abnormal joint physiology	6497	SKI	ORPHA:2462
HP:0034430	Abnormal joint physiology	10630	PDPN	ORPHA:1606
HP:0034430	Abnormal joint physiology	3339	HSPG2	ORPHA:1606
HP:0034430	Abnormal joint physiology	10277	UBE4B	ORPHA:1606
HP:0034430	Abnormal joint physiology	8514	KCNAB2	ORPHA:1606
HP:0034430	Abnormal joint physiology	473	RERE	ORPHA:1606
HP:0034430	Abnormal joint physiology	63976	PRDM16	ORPHA:1606
HP:0034430	Abnormal joint physiology	54897	CASZ1	ORPHA:1606
HP:0034430	Abnormal joint physiology	9719	ADAMTSL2	OMIM:231050
HP:0034430	Abnormal joint physiology	4952	OCRL	OMIM:309000
HP:0034430	Abnormal joint physiology	8517	IKBKG	ORPHA:464
HP:0034430	Abnormal joint physiology	10436	EMG1	ORPHA:1270
HP:0034430	Abnormal joint physiology	57492	ARID1B	ORPHA:251056
HP:0034430	Abnormal joint physiology	11128	POLR3A	ORPHA:3455
HP:0034430	Abnormal joint physiology	2239	GPC4	ORPHA:373
HP:0034430	Abnormal joint physiology	2719	GPC3	ORPHA:373
HP:0034430	Abnormal joint physiology	55612	FERMT1	ORPHA:2908
HP:0034430	Abnormal joint physiology	3977	LIFR	ORPHA:3206
HP:0034430	Abnormal joint physiology	23483	TGDS	ORPHA:1388
HP:0034430	Abnormal joint physiology	2260	FGFR1	OMIM:166250
HP:0034430	Abnormal joint physiology	7140	TNNT3	ORPHA:1146
HP:0034430	Abnormal joint physiology	7169	TPM2	ORPHA:1146
HP:0034430	Abnormal joint physiology	7136	TNNI2	ORPHA:1146
HP:0034430	Abnormal joint physiology	7136	TNNI2	OMIM:601680
HP:0034430	Abnormal joint physiology	4604	MYBPC1	ORPHA:1146
HP:0034430	Abnormal joint physiology	6885	MAP3K7	ORPHA:1826
HP:0034430	Abnormal joint physiology	117581	TWIST2	ORPHA:920
HP:0034430	Abnormal joint physiology	64324	NSD1	ORPHA:3447
HP:0034430	Abnormal joint physiology	8726	EED	ORPHA:3447
HP:0034430	Abnormal joint physiology	23512	SUZ12	ORPHA:3447
HP:0034430	Abnormal joint physiology	2146	EZH2	ORPHA:3447
HP:0034430	Abnormal joint physiology	1723	DHODH	ORPHA:246
HP:0034430	Abnormal joint physiology	257	ALX3	ORPHA:391474
HP:0034430	Abnormal joint physiology	3239	HOXD13	OMIM:186300
HP:0034430	Abnormal joint physiology	3239	HOXD13	ORPHA:93406
HP:0034430	Abnormal joint physiology	54903	MKS1	OMIM:249000
HP:0034430	Abnormal joint physiology	91252	SLC39A13	OMIM:612350
HP:0034430	Abnormal joint physiology	22930	RAB3GAP1	OMIM:619420
HP:0034430	Abnormal joint physiology	7046	TGFBR1	ORPHA:60030
HP:0034430	Abnormal joint physiology	10526	IPO8	ORPHA:60030
HP:0034430	Abnormal joint physiology	7048	TGFBR2	ORPHA:60030
HP:0034430	Abnormal joint physiology	3897	L1CAM	ORPHA:2466
HP:0034430	Abnormal joint physiology	2245	FGD1	ORPHA:915
HP:0034430	Abnormal joint physiology	2200	FBN1	ORPHA:2462
HP:0034430	Abnormal joint physiology	2201	FBN2	ORPHA:115
HP:0034430	Abnormal joint physiology	7227	TRPS1	ORPHA:77258
HP:0034430	Abnormal joint physiology	4088	SMAD3	ORPHA:284984
HP:0034430	Abnormal joint physiology	27238	GPKOW	ORPHA:2570
HP:0034430	Abnormal joint physiology	10466	COG5	ORPHA:263487
HP:0034430	Abnormal joint physiology	55315	SLC29A3	OMIM:602782
HP:0034430	Abnormal joint physiology	23102	TBC1D2B	OMIM:619323
HP:0034430	Abnormal joint physiology	2068	ERCC2	OMIM:610756
HP:0034430	Abnormal joint physiology	2068	ERCC2	ORPHA:1466
HP:0034430	Abnormal joint physiology	51114	ZDHHC9	ORPHA:776
HP:0034430	Abnormal joint physiology	65109	UPF3B	ORPHA:776
HP:0034430	Abnormal joint physiology	9968	MED12	ORPHA:776
HP:0034430	Abnormal joint physiology	2067	ERCC1	OMIM:610758
HP:0034430	Abnormal joint physiology	2067	ERCC1	ORPHA:1466
HP:0034430	Abnormal joint physiology	114548	NLRP3	ORPHA:575
HP:0034430	Abnormal joint physiology	2074	ERCC6	ORPHA:1466
HP:0034430	Abnormal joint physiology	2073	ERCC5	ORPHA:1466
HP:0034430	Abnormal joint physiology	134701	RIPPLY2	ORPHA:2311
HP:0034430	Abnormal joint physiology	10683	DLL3	ORPHA:2311
HP:0034430	Abnormal joint physiology	3955	LFNG	ORPHA:2311
HP:0034430	Abnormal joint physiology	84667	HES7	ORPHA:2311
HP:0034430	Abnormal joint physiology	145873	MESP2	ORPHA:2311
HP:0034430	Abnormal joint physiology	81620	CDT1	ORPHA:2554
HP:0034430	Abnormal joint physiology	5000	ORC4	ORPHA:2554
HP:0034430	Abnormal joint physiology	23594	ORC6	ORPHA:2554
HP:0034430	Abnormal joint physiology	8318	CDC45	ORPHA:2554
HP:0034430	Abnormal joint physiology	990	CDC6	ORPHA:2554
HP:0034430	Abnormal joint physiology	4998	ORC1	ORPHA:2554
HP:0034430	Abnormal joint physiology	51053	GMNN	ORPHA:2554
HP:0034430	Abnormal joint physiology	8260	NAA10	ORPHA:568
HP:0034430	Abnormal joint physiology	54880	BCOR	ORPHA:568
HP:0034430	Abnormal joint physiology	64327	LMBR1	ORPHA:93405
HP:0034430	Abnormal joint physiology	6469	SHH	ORPHA:93405
HP:0034430	Abnormal joint physiology	4927	NUP88	ORPHA:994
HP:0034430	Abnormal joint physiology	7846	TUBA1A	ORPHA:994
HP:0034430	Abnormal joint physiology	4654	MYOD1	ORPHA:994
HP:0034430	Abnormal joint physiology	5913	RAPSN	ORPHA:994
HP:0034430	Abnormal joint physiology	6572	SLC18A3	ORPHA:994
HP:0034430	Abnormal joint physiology	285489	DOK7	ORPHA:994
HP:0034430	Abnormal joint physiology	3914	LAMB3	OMIM:226650
HP:0034430	Abnormal joint physiology	9150	CTDP1	ORPHA:48431
HP:0034430	Abnormal joint physiology	8092	ALX1	ORPHA:306542
HP:0034430	Abnormal joint physiology	29895	MYL11	OMIM:619110
HP:0034430	Abnormal joint physiology	64840	PORCN	ORPHA:2092
HP:0034430	Abnormal joint physiology	23443	SLC35A3	OMIM:615553
HP:0034430	Abnormal joint physiology	285590	SH3PXD2B	ORPHA:137834
HP:0034430	Abnormal joint physiology	25914	RTTN	ORPHA:468631
HP:0034430	Abnormal joint physiology	9935	MAFB	ORPHA:2774
HP:0034430	Abnormal joint physiology	28952	CCDC22	OMIM:300963
HP:0034430	Abnormal joint physiology	8450	CUL4B	ORPHA:85293
HP:0034430	Abnormal joint physiology	1303	COL12A1	ORPHA:610
HP:0034430	Abnormal joint physiology	1291	COL6A1	ORPHA:610
HP:0034430	Abnormal joint physiology	1291	COL6A1	OMIM:158810
HP:0034430	Abnormal joint physiology	1292	COL6A2	ORPHA:610
HP:0034430	Abnormal joint physiology	1292	COL6A2	OMIM:158810
HP:0034430	Abnormal joint physiology	1293	COL6A3	ORPHA:610
HP:0034430	Abnormal joint physiology	1293	COL6A3	OMIM:158810
HP:0034430	Abnormal joint physiology	26092	TOR1AIP1	OMIM:617072
HP:0034430	Abnormal joint physiology	8242	KDM5C	ORPHA:85279
HP:0034430	Abnormal joint physiology	59341	TRPV4	ORPHA:2635
HP:0034430	Abnormal joint physiology	2261	FGFR3	ORPHA:85164
HP:0034430	Abnormal joint physiology	4000	LMNA	ORPHA:1662
HP:0034430	Abnormal joint physiology	10269	ZMPSTE24	ORPHA:1662
HP:0034430	Abnormal joint physiology	1146	CHRNG	ORPHA:2990
HP:0034430	Abnormal joint physiology	23522	KAT6B	ORPHA:3047
HP:0034430	Abnormal joint physiology	26123	TCTN3	ORPHA:2753
HP:0034430	Abnormal joint physiology	64131	XYLT1	ORPHA:1425
HP:0034430	Abnormal joint physiology	124583	CANT1	ORPHA:1425
HP:0034430	Abnormal joint physiology	55790	CSGALNACT1	ORPHA:1425
HP:0034430	Abnormal joint physiology	23529	CLCF1	ORPHA:1545
HP:0034430	Abnormal joint physiology	9244	CRLF1	ORPHA:1545
HP:0034430	Abnormal joint physiology	51002	TPRKB	ORPHA:2065
HP:0034430	Abnormal joint physiology	84942	WDR73	ORPHA:2065
HP:0034430	Abnormal joint physiology	55644	OSGEP	ORPHA:2065
HP:0034430	Abnormal joint physiology	57122	NUP107	ORPHA:2065
HP:0034430	Abnormal joint physiology	10785	WDR4	ORPHA:2065
HP:0034430	Abnormal joint physiology	55746	NUP133	ORPHA:2065
HP:0034430	Abnormal joint physiology	112858	TP53RK	ORPHA:2065
HP:0034430	Abnormal joint physiology	8270	LAGE3	ORPHA:2065
HP:0034430	Abnormal joint physiology	5696	PSMB8	OMIM:256040
HP:0034430	Abnormal joint physiology	56916	SMARCAD1	ORPHA:1658
HP:0000405	Conductive hearing impairment	26191	PTPN22	ORPHA:397
HP:0000405	Conductive hearing impairment	3106	HLA-B	ORPHA:397
HP:0000405	Conductive hearing impairment	3123	HLA-DRB1	ORPHA:397
HP:0000405	Conductive hearing impairment	8974	P4HA2	ORPHA:397
HP:0000405	Conductive hearing impairment	85016	CFAP300	OMIM:618063
HP:0000405	Conductive hearing impairment	85016	CFAP300	ORPHA:244
HP:0000405	Conductive hearing impairment	10194	TSHZ1	OMIM:607842
HP:0000405	Conductive hearing impairment	341640	FREM2	ORPHA:2052
HP:0000405	Conductive hearing impairment	80144	FRAS1	ORPHA:2052
HP:0000405	Conductive hearing impairment	80144	FRAS1	OMIM:219000
HP:0000405	Conductive hearing impairment	23426	GRIP1	ORPHA:2052
HP:0000405	Conductive hearing impairment	10262	SF3B4	OMIM:154400
HP:0000405	Conductive hearing impairment	23019	CNOT1	OMIM:618500
HP:0000405	Conductive hearing impairment	2138	EYA1	OMIM:113650
HP:0000405	Conductive hearing impairment	2138	EYA1	ORPHA:52429
HP:0000405	Conductive hearing impairment	2138	EYA1	ORPHA:2792
HP:0000405	Conductive hearing impairment	2138	EYA1	OMIM:166780
HP:0000405	Conductive hearing impairment	6495	SIX1	OMIM:113650
HP:0000405	Conductive hearing impairment	6495	SIX1	OMIM:605192
HP:0000405	Conductive hearing impairment	6495	SIX1	ORPHA:52429
HP:0000405	Conductive hearing impairment	2697	GJA1	ORPHA:1522
HP:0000405	Conductive hearing impairment	2697	GJA1	ORPHA:2710
HP:0000405	Conductive hearing impairment	2697	GJA1	OMIM:164200
HP:0000405	Conductive hearing impairment	56172	ANKH	ORPHA:1522
HP:0000405	Conductive hearing impairment	1161	ERCC8	ORPHA:90324
HP:0000405	Conductive hearing impairment	2074	ERCC6	ORPHA:90324
HP:0000405	Conductive hearing impairment	6228	RPS23	OMIM:617412
HP:0000405	Conductive hearing impairment	5238	PGM3	ORPHA:443811
HP:0000405	Conductive hearing impairment	5238	PGM3	OMIM:615816
HP:0000405	Conductive hearing impairment	145173	B3GLCT	ORPHA:709
HP:0000405	Conductive hearing impairment	10992	SF3B2	OMIM:164210
HP:0000405	Conductive hearing impairment	91147	TMEM67	OMIM:602152
HP:0000405	Conductive hearing impairment	64324	NSD1	ORPHA:821
HP:0000405	Conductive hearing impairment	64324	NSD1	OMIM:117550
HP:0000405	Conductive hearing impairment	29072	SETD2	ORPHA:821
HP:0000405	Conductive hearing impairment	29072	SETD2	OMIM:620155
HP:0000405	Conductive hearing impairment	10297	APC2	ORPHA:821
HP:0000405	Conductive hearing impairment	5447	POR	ORPHA:95699
HP:0000405	Conductive hearing impairment	5447	POR	OMIM:201750
HP:0000405	Conductive hearing impairment	4487	MSX1	ORPHA:199302
HP:0000405	Conductive hearing impairment	4487	MSX1	ORPHA:199306
HP:0000405	Conductive hearing impairment	5818	NECTIN1	ORPHA:199302
HP:0000405	Conductive hearing impairment	5818	NECTIN1	ORPHA:199306
HP:0000405	Conductive hearing impairment	8626	TP63	ORPHA:199302
HP:0000405	Conductive hearing impairment	8626	TP63	ORPHA:199306
HP:0000405	Conductive hearing impairment	8626	TP63	OMIM:106260
HP:0000405	Conductive hearing impairment	3664	IRF6	ORPHA:199302
HP:0000405	Conductive hearing impairment	3664	IRF6	ORPHA:199306
HP:0000405	Conductive hearing impairment	3190	HNRNPK	ORPHA:453504
HP:0000405	Conductive hearing impairment	3190	HNRNPK	ORPHA:352665
HP:0000405	Conductive hearing impairment	1739	DLG1	ORPHA:199306
HP:0000405	Conductive hearing impairment	652	BMP4	ORPHA:199306
HP:0000405	Conductive hearing impairment	999	CDH1	ORPHA:199306
HP:0000405	Conductive hearing impairment	999	CDH1	ORPHA:1997
HP:0000405	Conductive hearing impairment	5156	PDGFRA	ORPHA:199306
HP:0000405	Conductive hearing impairment	9411	ARHGAP29	ORPHA:199306
HP:0000405	Conductive hearing impairment	1748	DLX4	ORPHA:199306
HP:0000405	Conductive hearing impairment	8792	TNFRSF11A	OMIM:174810
HP:0000405	Conductive hearing impairment	1855	DVL1	OMIM:616331
HP:0000405	Conductive hearing impairment	1723	DHODH	OMIM:263750
HP:0000405	Conductive hearing impairment	1723	DHODH	ORPHA:246
HP:0000405	Conductive hearing impairment	63916	ELMO2	ORPHA:3019
HP:0000405	Conductive hearing impairment	2314	FLII	ORPHA:819
HP:0000405	Conductive hearing impairment	23096	IQSEC2	ORPHA:819
HP:0000405	Conductive hearing impairment	10743	RAI1	ORPHA:819
HP:0000405	Conductive hearing impairment	10522	DEAF1	ORPHA:819
HP:0000405	Conductive hearing impairment	10847	SRCAP	ORPHA:2044
HP:0000405	Conductive hearing impairment	10847	SRCAP	OMIM:136140
HP:0000405	Conductive hearing impairment	6662	SOX9	OMIM:114290
HP:0000405	Conductive hearing impairment	9382	COG1	OMIM:611209
HP:0000405	Conductive hearing impairment	50964	SOST	ORPHA:1513
HP:0000405	Conductive hearing impairment	1500	CTNND1	ORPHA:1997
HP:0000405	Conductive hearing impairment	2188	FANCF	OMIM:603467
HP:0000405	Conductive hearing impairment	1146	CHRNG	OMIM:265000
HP:0000405	Conductive hearing impairment	1146	CHRNG	ORPHA:2990
HP:0000405	Conductive hearing impairment	90	ACVR1	OMIM:135100
HP:0000405	Conductive hearing impairment	2261	FGFR3	ORPHA:93262
HP:0000405	Conductive hearing impairment	2261	FGFR3	ORPHA:2363
HP:0000405	Conductive hearing impairment	2261	FGFR3	OMIM:100800
HP:0000405	Conductive hearing impairment	2261	FGFR3	ORPHA:794
HP:0000405	Conductive hearing impairment	2263	FGFR2	ORPHA:87
HP:0000405	Conductive hearing impairment	2263	FGFR2	ORPHA:2363
HP:0000405	Conductive hearing impairment	2263	FGFR2	ORPHA:794
HP:0000405	Conductive hearing impairment	2263	FGFR2	OMIM:123500
HP:0000405	Conductive hearing impairment	2263	FGFR2	ORPHA:207
HP:0000405	Conductive hearing impairment	2590	GALNT2	OMIM:618885
HP:0000405	Conductive hearing impairment	4853	NOTCH2	OMIM:102500
HP:0000405	Conductive hearing impairment	3423	IDS	ORPHA:217085
HP:0000405	Conductive hearing impairment	3423	IDS	ORPHA:217093
HP:0000405	Conductive hearing impairment	90993	CREB3L1	OMIM:616229
HP:0000405	Conductive hearing impairment	7428	VHL	ORPHA:276621
HP:0000405	Conductive hearing impairment	7428	VHL	ORPHA:29072
HP:0000405	Conductive hearing impairment	5979	RET	ORPHA:276621
HP:0000405	Conductive hearing impairment	5979	RET	ORPHA:29072
HP:0000405	Conductive hearing impairment	1788	DNMT3A	ORPHA:276621
HP:0000405	Conductive hearing impairment	2034	EPAS1	ORPHA:276621
HP:0000405	Conductive hearing impairment	6392	SDHD	ORPHA:276621
HP:0000405	Conductive hearing impairment	6392	SDHD	OMIM:168000
HP:0000405	Conductive hearing impairment	6392	SDHD	ORPHA:29072
HP:0000405	Conductive hearing impairment	6390	SDHB	ORPHA:276621
HP:0000405	Conductive hearing impairment	6390	SDHB	ORPHA:29072
HP:0000405	Conductive hearing impairment	7020	TFAP2A	OMIM:113620
HP:0000405	Conductive hearing impairment	7020	TFAP2A	ORPHA:1297
HP:0000405	Conductive hearing impairment	9401	RECQL4	OMIM:218600
HP:0000405	Conductive hearing impairment	9401	RECQL4	ORPHA:1225
HP:0000405	Conductive hearing impairment	23347	SMCHD1	OMIM:603457
HP:0000405	Conductive hearing impairment	6885	MAP3K7	OMIM:157800
HP:0000405	Conductive hearing impairment	6885	MAP3K7	ORPHA:3238
HP:0000405	Conductive hearing impairment	6885	MAP3K7	ORPHA:1826
HP:0000405	Conductive hearing impairment	6885	MAP3K7	OMIM:617137
HP:0000405	Conductive hearing impairment	57167	SALL4	ORPHA:959
HP:0000405	Conductive hearing impairment	83879	CDCA7	OMIM:616910
HP:0000405	Conductive hearing impairment	8642	DCHS1	OMIM:601390
HP:0000405	Conductive hearing impairment	8642	DCHS1	ORPHA:314679
HP:0000405	Conductive hearing impairment	53834	FGFRL1	OMIM:194190
HP:0000405	Conductive hearing impairment	1487	CTBP1	OMIM:194190
HP:0000405	Conductive hearing impairment	3954	LETM1	OMIM:194190
HP:0000405	Conductive hearing impairment	7468	NSD2	OMIM:194190
HP:0000405	Conductive hearing impairment	10815	CPLX1	OMIM:194190
HP:0000405	Conductive hearing impairment	10815	CPLX1	OMIM:617976
HP:0000405	Conductive hearing impairment	8200	GDF5	ORPHA:3237
HP:0000405	Conductive hearing impairment	2254	FGF9	ORPHA:3237
HP:0000405	Conductive hearing impairment	392255	GDF6	OMIM:118100
HP:0000405	Conductive hearing impairment	3590	IL11RA	OMIM:614188
HP:0000405	Conductive hearing impairment	9508	ADAMTS3	ORPHA:2136
HP:0000405	Conductive hearing impairment	147372	CCBE1	ORPHA:2136
HP:0000405	Conductive hearing impairment	147372	CCBE1	OMIM:235510
HP:0000405	Conductive hearing impairment	79633	FAT4	ORPHA:2136
HP:0000405	Conductive hearing impairment	79633	FAT4	ORPHA:314679
HP:0000405	Conductive hearing impairment	79633	FAT4	OMIM:615546
HP:0000405	Conductive hearing impairment	1909	EDNRA	OMIM:616367
HP:0000405	Conductive hearing impairment	1743	DLST	ORPHA:29072
HP:0000405	Conductive hearing impairment	4191	MDH2	ORPHA:29072
HP:0000405	Conductive hearing impairment	6389	SDHA	ORPHA:29072
HP:0000405	Conductive hearing impairment	23095	KIF1B	ORPHA:29072
HP:0000405	Conductive hearing impairment	2271	FH	ORPHA:29072
HP:0000405	Conductive hearing impairment	8402	SLC25A11	ORPHA:29072
HP:0000405	Conductive hearing impairment	54949	SDHAF2	ORPHA:29072
HP:0000405	Conductive hearing impairment	55654	TMEM127	ORPHA:29072
HP:0000405	Conductive hearing impairment	4763	NF1	ORPHA:29072
HP:0000405	Conductive hearing impairment	6391	SDHC	ORPHA:29072
HP:0000405	Conductive hearing impairment	4149	MAX	ORPHA:29072
HP:0000405	Conductive hearing impairment	5590	PRKCZ	ORPHA:1606
HP:0000405	Conductive hearing impairment	2563	GABRD	ORPHA:1606
HP:0000405	Conductive hearing impairment	23013	SPEN	ORPHA:1606
HP:0000405	Conductive hearing impairment	23013	SPEN	OMIM:619312
HP:0000405	Conductive hearing impairment	8510	MMP23B	ORPHA:1606
HP:0000405	Conductive hearing impairment	7798	LUZP1	ORPHA:1606
HP:0000405	Conductive hearing impairment	6497	SKI	ORPHA:1606
HP:0000405	Conductive hearing impairment	6497	SKI	ORPHA:2462
HP:0000405	Conductive hearing impairment	6497	SKI	OMIM:182212
HP:0000405	Conductive hearing impairment	10630	PDPN	ORPHA:1606
HP:0000405	Conductive hearing impairment	3339	HSPG2	ORPHA:1606
HP:0000405	Conductive hearing impairment	10277	UBE4B	ORPHA:1606
HP:0000405	Conductive hearing impairment	8514	KCNAB2	ORPHA:1606
HP:0000405	Conductive hearing impairment	473	RERE	ORPHA:1606
HP:0000405	Conductive hearing impairment	63976	PRDM16	ORPHA:1606
HP:0000405	Conductive hearing impairment	54897	CASZ1	ORPHA:1606
HP:0000405	Conductive hearing impairment	1280	COL2A1	OMIM:108300
HP:0000405	Conductive hearing impairment	1280	COL2A1	OMIM:132450
HP:0000405	Conductive hearing impairment	1280	COL2A1	OMIM:156550
HP:0000405	Conductive hearing impairment	8085	KMT2D	OMIM:620186
HP:0000405	Conductive hearing impairment	8085	KMT2D	ORPHA:2322
HP:0000405	Conductive hearing impairment	145258	GSC	OMIM:602471
HP:0000405	Conductive hearing impairment	10907	TXNL4A	OMIM:608572
HP:0000405	Conductive hearing impairment	6628	SNRPB	ORPHA:1393
HP:0000405	Conductive hearing impairment	6628	SNRPB	OMIM:117650
HP:0000405	Conductive hearing impairment	4849	CNOT3	OMIM:618672
HP:0000405	Conductive hearing impairment	2255	FGF10	ORPHA:2363
HP:0000405	Conductive hearing impairment	6231	RPS26	OMIM:613309
HP:0000405	Conductive hearing impairment	2316	FLNA	OMIM:304120
HP:0000405	Conductive hearing impairment	2316	FLNA	ORPHA:1826
HP:0000405	Conductive hearing impairment	2316	FLNA	OMIM:311300
HP:0000405	Conductive hearing impairment	11107	PRDM5	ORPHA:90354
HP:0000405	Conductive hearing impairment	84627	ZNF469	ORPHA:90354
HP:0000405	Conductive hearing impairment	55343	SLC35C1	ORPHA:99843
HP:0000405	Conductive hearing impairment	6949	TCOF1	OMIM:154500
HP:0000405	Conductive hearing impairment	6949	TCOF1	ORPHA:861
HP:0000405	Conductive hearing impairment	25836	NIPBL	OMIM:122470
HP:0000405	Conductive hearing impairment	25836	NIPBL	ORPHA:199
HP:0000405	Conductive hearing impairment	50945	TBX22	ORPHA:921
HP:0000405	Conductive hearing impairment	25981	DNAH1	ORPHA:244
HP:0000405	Conductive hearing impairment	115948	ODAD3	ORPHA:244
HP:0000405	Conductive hearing impairment	54768	HYDIN	ORPHA:244
HP:0000405	Conductive hearing impairment	352909	DNAAF3	ORPHA:244
HP:0000405	Conductive hearing impairment	27148	STK36	ORPHA:244
HP:0000405	Conductive hearing impairment	51314	NME8	ORPHA:244
HP:0000405	Conductive hearing impairment	92749	DRC1	ORPHA:244
HP:0000405	Conductive hearing impairment	54970	TTC12	ORPHA:244
HP:0000405	Conductive hearing impairment	152110	NEK10	ORPHA:244
HP:0000405	Conductive hearing impairment	8481	OFD1	ORPHA:244
HP:0000405	Conductive hearing impairment	8481	OFD1	ORPHA:791
HP:0000405	Conductive hearing impairment	8481	OFD1	ORPHA:2754
HP:0000405	Conductive hearing impairment	2302	FOXJ1	ORPHA:244
HP:0000405	Conductive hearing impairment	221421	RSPH9	ORPHA:244
HP:0000405	Conductive hearing impairment	85478	CCDC65	ORPHA:244
HP:0000405	Conductive hearing impairment	55036	CCDC40	ORPHA:244
HP:0000405	Conductive hearing impairment	51364	ZMYND10	ORPHA:244
HP:0000405	Conductive hearing impairment	64446	DNAI2	ORPHA:244
HP:0000405	Conductive hearing impairment	6674	SPAG1	ORPHA:244
HP:0000405	Conductive hearing impairment	83544	DNAL1	ORPHA:244
HP:0000405	Conductive hearing impairment	89765	RSPH1	ORPHA:244
HP:0000405	Conductive hearing impairment	83538	ODAD4	ORPHA:244
HP:0000405	Conductive hearing impairment	200373	CFAP221	ORPHA:244
HP:0000405	Conductive hearing impairment	374407	DNAJB13	ORPHA:244
HP:0000405	Conductive hearing impairment	55172	DNAAF2	ORPHA:244
HP:0000405	Conductive hearing impairment	161582	DNAAF4	ORPHA:244
HP:0000405	Conductive hearing impairment	2622	GAS8	ORPHA:244
HP:0000405	Conductive hearing impairment	2622	GAS8	OMIM:616726
HP:0000405	Conductive hearing impairment	23639	DNAAF11	ORPHA:244
HP:0000405	Conductive hearing impairment	27019	DNAI1	ORPHA:244
HP:0000405	Conductive hearing impairment	27019	DNAI1	OMIM:244400
HP:0000405	Conductive hearing impairment	345895	RSPH4A	ORPHA:244
HP:0000405	Conductive hearing impairment	54919	DNAAF5	ORPHA:244
HP:0000405	Conductive hearing impairment	6103	RPGR	ORPHA:244
HP:0000405	Conductive hearing impairment	6103	RPGR	ORPHA:791
HP:0000405	Conductive hearing impairment	388389	CCDC103	ORPHA:244
HP:0000405	Conductive hearing impairment	93233	ODAD1	ORPHA:244
HP:0000405	Conductive hearing impairment	55130	ODAD2	ORPHA:244
HP:0000405	Conductive hearing impairment	1767	DNAH5	ORPHA:244
HP:0000405	Conductive hearing impairment	83861	RSPH3	ORPHA:244
HP:0000405	Conductive hearing impairment	345643	MCIDAS	ORPHA:244
HP:0000405	Conductive hearing impairment	56683	CFAP298	ORPHA:244
HP:0000405	Conductive hearing impairment	79925	SPEF2	ORPHA:244
HP:0000405	Conductive hearing impairment	10309	CCNO	ORPHA:244
HP:0000405	Conductive hearing impairment	115399	LRRC56	ORPHA:244
HP:0000405	Conductive hearing impairment	139212	DNAAF6	ORPHA:244
HP:0000405	Conductive hearing impairment	123872	DNAAF1	ORPHA:244
HP:0000405	Conductive hearing impairment	339829	CCDC39	ORPHA:244
HP:0000405	Conductive hearing impairment	8701	DNAH11	ORPHA:244
HP:0000405	Conductive hearing impairment	1770	DNAH9	ORPHA:244
HP:0000405	Conductive hearing impairment	246176	GAS2L2	ORPHA:244
HP:0000405	Conductive hearing impairment	25970	SH2B1	ORPHA:261197
HP:0000405	Conductive hearing impairment	2317	FLNB	OMIM:150250
HP:0000405	Conductive hearing impairment	2317	FLNB	ORPHA:503
HP:0000405	Conductive hearing impairment	9533	POLR1C	OMIM:248390
HP:0000405	Conductive hearing impairment	9533	POLR1C	ORPHA:861
HP:0000405	Conductive hearing impairment	51053	GMNN	OMIM:616835
HP:0000405	Conductive hearing impairment	2200	FBN1	ORPHA:2462
HP:0000405	Conductive hearing impairment	196528	ARID2	OMIM:617808
HP:0000405	Conductive hearing impairment	10456	HAX1	OMIM:610738
HP:0000405	Conductive hearing impairment	6309	SC5D	OMIM:607330
HP:0000405	Conductive hearing impairment	7291	TWIST1	ORPHA:794
HP:0000405	Conductive hearing impairment	9949	AMMECR1	OMIM:300990
HP:0000405	Conductive hearing impairment	9361	LONP1	OMIM:600373
HP:0000405	Conductive hearing impairment	92840	REEP6	ORPHA:791
HP:0000405	Conductive hearing impairment	6094	ROM1	ORPHA:791
HP:0000405	Conductive hearing impairment	6017	RLBP1	ORPHA:791
HP:0000405	Conductive hearing impairment	7401	CLRN1	ORPHA:791
HP:0000405	Conductive hearing impairment	24	ABCA4	ORPHA:791
HP:0000405	Conductive hearing impairment	130557	ZNF513	ORPHA:791
HP:0000405	Conductive hearing impairment	582	BBS1	ORPHA:791
HP:0000405	Conductive hearing impairment	92211	CDHR1	ORPHA:791
HP:0000405	Conductive hearing impairment	23568	ARL2BP	ORPHA:791
HP:0000405	Conductive hearing impairment	6121	RPE65	ORPHA:791
HP:0000405	Conductive hearing impairment	54806	AHI1	ORPHA:791
HP:0000405	Conductive hearing impairment	6101	RP1	ORPHA:791
HP:0000405	Conductive hearing impairment	3419	IDH3A	ORPHA:791
HP:0000405	Conductive hearing impairment	4751	NEK2	ORPHA:791
HP:0000405	Conductive hearing impairment	346007	EYS	ORPHA:791
HP:0000405	Conductive hearing impairment	8100	IFT88	ORPHA:791
HP:0000405	Conductive hearing impairment	23020	SNRNP200	ORPHA:791
HP:0000405	Conductive hearing impairment	762	CA4	ORPHA:791
HP:0000405	Conductive hearing impairment	138050	HGSNAT	ORPHA:791
HP:0000405	Conductive hearing impairment	196	AHR	ORPHA:791
HP:0000405	Conductive hearing impairment	3614	IMPDH1	ORPHA:791
HP:0000405	Conductive hearing impairment	123016	TTC8	ORPHA:791
HP:0000405	Conductive hearing impairment	1406	CRX	ORPHA:791
HP:0000405	Conductive hearing impairment	5148	PDE6G	ORPHA:791
HP:0000405	Conductive hearing impairment	26160	IFT172	ORPHA:791
HP:0000405	Conductive hearing impairment	26121	PRPF31	ORPHA:791
HP:0000405	Conductive hearing impairment	583	BBS2	ORPHA:791
HP:0000405	Conductive hearing impairment	4117	MAK	ORPHA:791
HP:0000405	Conductive hearing impairment	25794	FSCN2	ORPHA:791
HP:0000405	Conductive hearing impairment	375298	CERKL	ORPHA:791
HP:0000405	Conductive hearing impairment	3420	IDH3B	ORPHA:791
HP:0000405	Conductive hearing impairment	57670	KIAA1549	ORPHA:791
HP:0000405	Conductive hearing impairment	7275	TUB	ORPHA:791
HP:0000405	Conductive hearing impairment	24148	PRPF6	ORPHA:791
HP:0000405	Conductive hearing impairment	23418	CRB1	ORPHA:791
HP:0000405	Conductive hearing impairment	10461	MERTK	ORPHA:791
HP:0000405	Conductive hearing impairment	57709	SLC7A14	ORPHA:791
HP:0000405	Conductive hearing impairment	768206	PRCD	ORPHA:791
HP:0000405	Conductive hearing impairment	7399	USH2A	ORPHA:791
HP:0000405	Conductive hearing impairment	23370	ARHGEF18	ORPHA:791
HP:0000405	Conductive hearing impairment	5949	RBP3	ORPHA:791
HP:0000405	Conductive hearing impairment	6010	RHO	ORPHA:791
HP:0000405	Conductive hearing impairment	6100	RP9	ORPHA:791
HP:0000405	Conductive hearing impairment	10002	NR2E3	ORPHA:791
HP:0000405	Conductive hearing impairment	9227	LRAT	ORPHA:791
HP:0000405	Conductive hearing impairment	84140	FAM161A	ORPHA:791
HP:0000405	Conductive hearing impairment	55812	SPATA7	ORPHA:791
HP:0000405	Conductive hearing impairment	55624	POMGNT1	ORPHA:791
HP:0000405	Conductive hearing impairment	79797	ZNF408	ORPHA:791
HP:0000405	Conductive hearing impairment	403	ARL3	ORPHA:791
HP:0000405	Conductive hearing impairment	5145	PDE6A	ORPHA:791
HP:0000405	Conductive hearing impairment	10210	TOPORS	ORPHA:791
HP:0000405	Conductive hearing impairment	10210	TOPORS	ORPHA:2754
HP:0000405	Conductive hearing impairment	8842	PROM1	ORPHA:791
HP:0000405	Conductive hearing impairment	9128	PRPF4	ORPHA:791
HP:0000405	Conductive hearing impairment	145226	RDH12	ORPHA:791
HP:0000405	Conductive hearing impairment	50939	IMPG2	ORPHA:791
HP:0000405	Conductive hearing impairment	49855	SCAPER	ORPHA:791
HP:0000405	Conductive hearing impairment	9742	IFT140	ORPHA:791
HP:0000405	Conductive hearing impairment	2979	GUCA1B	ORPHA:791
HP:0000405	Conductive hearing impairment	1259	CNGA1	ORPHA:791
HP:0000405	Conductive hearing impairment	1258	CNGB1	ORPHA:791
HP:0000405	Conductive hearing impairment	60509	AGBL5	ORPHA:791
HP:0000405	Conductive hearing impairment	5961	PRPH2	ORPHA:791
HP:0000405	Conductive hearing impairment	388939	PCARE	ORPHA:791
HP:0000405	Conductive hearing impairment	7439	BEST1	ORPHA:791
HP:0000405	Conductive hearing impairment	9785	DHX38	ORPHA:791
HP:0000405	Conductive hearing impairment	7287	TULP1	ORPHA:791
HP:0000405	Conductive hearing impairment	5995	RGR	ORPHA:791
HP:0000405	Conductive hearing impairment	9129	PRPF3	ORPHA:791
HP:0000405	Conductive hearing impairment	55975	KLHL7	ORPHA:791
HP:0000405	Conductive hearing impairment	3617	IMPG1	ORPHA:791
HP:0000405	Conductive hearing impairment	94137	RP1L1	ORPHA:791
HP:0000405	Conductive hearing impairment	5158	PDE6B	ORPHA:791
HP:0000405	Conductive hearing impairment	6102	RP2	ORPHA:791
HP:0000405	Conductive hearing impairment	55857	KIZ	ORPHA:791
HP:0000405	Conductive hearing impairment	64218	SEMA4A	ORPHA:791
HP:0000405	Conductive hearing impairment	4901	NRL	ORPHA:791
HP:0000405	Conductive hearing impairment	157657	CFAP418	ORPHA:791
HP:0000405	Conductive hearing impairment	10594	PRPF8	ORPHA:791
HP:0000405	Conductive hearing impairment	84100	ARL6	ORPHA:791
HP:0000405	Conductive hearing impairment	6295	SAG	ORPHA:791
HP:0000405	Conductive hearing impairment	79947	DHDDS	ORPHA:791
HP:0000405	Conductive hearing impairment	5648	MASP1	OMIM:257920
HP:0000405	Conductive hearing impairment	5396	PRRX1	OMIM:202650
HP:0000405	Conductive hearing impairment	9759	HDAC4	ORPHA:1001
HP:0000405	Conductive hearing impairment	7314	UBB	ORPHA:99772
HP:0000405	Conductive hearing impairment	57822	GRHL3	ORPHA:99772
HP:0000405	Conductive hearing impairment	27125	AFF4	ORPHA:444077
HP:0000405	Conductive hearing impairment	1387	CREBBP	ORPHA:353281
HP:0000405	Conductive hearing impairment	1387	CREBBP	ORPHA:353277
HP:0000405	Conductive hearing impairment	4854	NOTCH3	OMIM:130720
HP:0000405	Conductive hearing impairment	4854	NOTCH3	ORPHA:2789
HP:0000405	Conductive hearing impairment	2623	GATA1	OMIM:190685
HP:0000405	Conductive hearing impairment	55215	FANCI	OMIM:609053
HP:0000405	Conductive hearing impairment	7403	KDM6A	ORPHA:2322
HP:0000405	Conductive hearing impairment	2033	EP300	ORPHA:353284
HP:0000405	Conductive hearing impairment	55033	FKBP14	OMIM:614557
HP:0000405	Conductive hearing impairment	79158	GNPTAB	ORPHA:576
HP:0000405	Conductive hearing impairment	5075	PAX1	ORPHA:2792
HP:0000405	Conductive hearing impairment	2077	ERF	ORPHA:207
HP:0000405	Conductive hearing impairment	1312	COMT	ORPHA:567
HP:0000405	Conductive hearing impairment	221037	JMJD1C	ORPHA:567
HP:0000405	Conductive hearing impairment	2812	GP1BB	ORPHA:567
HP:0000405	Conductive hearing impairment	6239	RREB1	ORPHA:567
HP:0000405	Conductive hearing impairment	6899	TBX1	ORPHA:567
HP:0000405	Conductive hearing impairment	7290	HIRA	ORPHA:567
HP:0000405	Conductive hearing impairment	9632	SEC24C	ORPHA:567
HP:0000405	Conductive hearing impairment	7353	UFD1	ORPHA:567
HP:0000405	Conductive hearing impairment	421	ARVCF	ORPHA:567
HP:0000405	Conductive hearing impairment	7703	PCGF2	OMIM:618371
HP:0000405	Conductive hearing impairment	4784	NFIX	ORPHA:561
HP:0000405	Conductive hearing impairment	774	CACNA1B	OMIM:618497
HP:0000405	Conductive hearing impairment	139285	AMER1	ORPHA:2780
HP:0000405	Conductive hearing impairment	139285	AMER1	OMIM:300373
HP:0000405	Conductive hearing impairment	9343	EFTUD2	OMIM:610536
HP:0000405	Conductive hearing impairment	9343	EFTUD2	ORPHA:79113
HP:0000405	Conductive hearing impairment	84172	POLR1B	OMIM:618939
HP:0000405	Conductive hearing impairment	84172	POLR1B	ORPHA:861
HP:0000405	Conductive hearing impairment	760	CA2	ORPHA:2785
HP:0000405	Conductive hearing impairment	23476	BRD4	ORPHA:199
HP:0000405	Conductive hearing impairment	9126	SMC3	ORPHA:199
HP:0000405	Conductive hearing impairment	8243	SMC1A	ORPHA:199
HP:0000405	Conductive hearing impairment	55869	HDAC8	ORPHA:199
HP:0000405	Conductive hearing impairment	5885	RAD21	ORPHA:199
HP:0000405	Conductive hearing impairment	4613	MYCN	ORPHA:391641
HP:0000405	Conductive hearing impairment	29957	SLC25A24	ORPHA:2095
HP:0000405	Conductive hearing impairment	29957	SLC25A24	OMIM:612289
HP:0000405	Conductive hearing impairment	65250	CPLANE1	OMIM:277170
HP:0000405	Conductive hearing impairment	65250	CPLANE1	ORPHA:2754
HP:0000405	Conductive hearing impairment	8092	ALX1	ORPHA:306542
HP:0000405	Conductive hearing impairment	5167	ENPP1	ORPHA:51608
HP:0000405	Conductive hearing impairment	368	ABCC6	ORPHA:51608
HP:0000405	Conductive hearing impairment	28962	OSTM1	ORPHA:85179
HP:0000405	Conductive hearing impairment	100996717	NOTCH2NLC	OMIM:619473
HP:0000405	Conductive hearing impairment	246329	STAC3	ORPHA:168572
HP:0000405	Conductive hearing impairment	246329	STAC3	OMIM:255995
HP:0000405	Conductive hearing impairment	2131	EXT1	ORPHA:502
HP:0000405	Conductive hearing impairment	7227	TRPS1	ORPHA:502
HP:0000405	Conductive hearing impairment	5456	POU3F4	OMIM:304400
HP:0000405	Conductive hearing impairment	5456	POU3F4	ORPHA:1435
HP:0000405	Conductive hearing impairment	10804	GJB6	OMIM:304400
HP:0000405	Conductive hearing impairment	2706	GJB2	OMIM:304400
HP:0000405	Conductive hearing impairment	4000	LMNA	ORPHA:740
HP:0000405	Conductive hearing impairment	10269	ZMPSTE24	ORPHA:740
HP:0000405	Conductive hearing impairment	51082	POLR1D	ORPHA:861
HP:0000405	Conductive hearing impairment	51082	POLR1D	OMIM:613717
HP:0000405	Conductive hearing impairment	4041	LRP5	OMIM:607634
HP:0000405	Conductive hearing impairment	51715	RAB23	OMIM:201000
HP:0000405	Conductive hearing impairment	4222	MEOX1	OMIM:214300
HP:0000405	Conductive hearing impairment	26137	ZBTB20	ORPHA:3042
HP:0000405	Conductive hearing impairment	1984	EIF5A	OMIM:619376
HP:0000405	Conductive hearing impairment	650	BMP2	OMIM:617877
HP:0000405	Conductive hearing impairment	9487	PIGL	OMIM:280000
HP:0000405	Conductive hearing impairment	4621	MYH3	ORPHA:2990
HP:0000405	Conductive hearing impairment	4750	NEK1	ORPHA:2751
HP:0000405	Conductive hearing impairment	26123	TCTN3	ORPHA:2753
HP:0000405	Conductive hearing impairment	26123	TCTN3	ORPHA:2754
HP:0000405	Conductive hearing impairment	5286	PIK3C2A	ORPHA:557003
HP:0000405	Conductive hearing impairment	9851	KIAA0753	ORPHA:2754
HP:0000405	Conductive hearing impairment	5147	PDE6D	ORPHA:2754
HP:0000405	Conductive hearing impairment	51259	TMEM216	ORPHA:2754
HP:0000405	Conductive hearing impairment	317662	FAM149B1	ORPHA:2754
HP:0000405	Conductive hearing impairment	374654	KIF7	ORPHA:2754
HP:0000405	Conductive hearing impairment	90121	TSR2	OMIM:300946
HP:0000405	Conductive hearing impairment	4921	DDR2	OMIM:618175
HP:0000405	Conductive hearing impairment	3476	IGBP1	OMIM:300472
HP:0000405	Conductive hearing impairment	64840	PORCN	OMIM:305600
HP:0000405	Conductive hearing impairment	126792	B3GALT6	ORPHA:536467
HP:0000405	Conductive hearing impairment	166929	SGMS2	OMIM:126550
HP:0000405	Conductive hearing impairment	415	ARSL	ORPHA:79345
HP:0000405	Conductive hearing impairment	1302	COL11A2	OMIM:215150
HP:0000405	Conductive hearing impairment	4125	MAN2B1	ORPHA:309282
HP:0000405	Conductive hearing impairment	4125	MAN2B1	ORPHA:309288
HP:0000405	Conductive hearing impairment	3199	HOXA2	OMIM:612290
HP:0000405	Conductive hearing impairment	55755	CDK5RAP2	OMIM:604804
HP:0000405	Conductive hearing impairment	1009	CDH11	ORPHA:1299
HP:0000405	Conductive hearing impairment	55636	CHD7	OMIM:214800
HP:0000405	Conductive hearing impairment	84173	ELMOD3	OMIM:615429
HP:0000405	Conductive hearing impairment	55294	FBXW7	OMIM:620012
HP:0000405	Conductive hearing impairment	56975	FAM20C	OMIM:259775
HP:0000405	Conductive hearing impairment	6234	RPS28	OMIM:606164
HP:0000405	Conductive hearing impairment	9894	TELO2	ORPHA:488642
HP:0000405	Conductive hearing impairment	29123	ANKRD11	ORPHA:2332
HP:0000405	Conductive hearing impairment	7407	VARS1	OMIM:617802
HP:0000405	Conductive hearing impairment	1906	EDN1	OMIM:615706
HP:0000405	Conductive hearing impairment	257	ALX3	ORPHA:391474
HP:0000405	Conductive hearing impairment	1513	CTSK	ORPHA:763
HP:0000405	Conductive hearing impairment	9241	NOG	OMIM:186500
HP:0000405	Conductive hearing impairment	5718	PSMD12	ORPHA:529962
HP:0000405	Conductive hearing impairment	2186	BPTF	ORPHA:529962
HP:0000405	Conductive hearing impairment	1278	COL1A2	ORPHA:230851
HP:0000405	Conductive hearing impairment	374879	ZNF699	OMIM:619488
HP:0008583	Underfolded superior helices	6535	SLC6A8	OMIM:300352
HP:0008583	Underfolded superior helices	6567	SLC16A2	OMIM:300523
HP:0008586	Hypoplasia of the cochlea	1663	DDX11	OMIM:613398
HP:0008586	Hypoplasia of the cochlea	2138	EYA1	OMIM:166780
HP:0008586	Hypoplasia of the cochlea	2138	EYA1	OMIM:602588
HP:0008586	Hypoplasia of the cochlea	2138	EYA1	OMIM:113650
HP:0008586	Hypoplasia of the cochlea	2138	EYA1	ORPHA:107
HP:0008586	Hypoplasia of the cochlea	3766	KCNJ10	ORPHA:705
HP:0008586	Hypoplasia of the cochlea	2299	FOXI1	ORPHA:705
HP:0008586	Hypoplasia of the cochlea	5172	SLC26A4	ORPHA:705
HP:0008586	Hypoplasia of the cochlea	6495	SIX1	OMIM:113650
HP:0008586	Hypoplasia of the cochlea	6495	SIX1	ORPHA:107
HP:0008586	Hypoplasia of the cochlea	147912	SIX5	ORPHA:107
HP:0008587	Mild neurosensory hearing impairment	5238	PGM3	ORPHA:443811
HP:0008587	Mild neurosensory hearing impairment	9927	MFN2	OMIM:601152
HP:0008588	Slit-like opening of the exterior auditory meatus	57167	SALL4	OMIM:607323
HP:0008589	Hypoplastic helices	7020	TFAP2A	OMIM:113620
HP:0008589	Hypoplastic helices	5332	PLCB4	OMIM:614669
HP:0008589	Hypoplastic helices	80144	FRAS1	OMIM:219000
HP:0008589	Hypoplastic helices	2773	GNAI3	OMIM:602483
HP:0008589	Hypoplastic helices	10157	AASS	ORPHA:2203
HP:0008589	Hypoplastic helices	3199	HOXA2	ORPHA:83463
HP:0008589	Hypoplastic helices	27086	FOXP1	ORPHA:391372
HP:0008589	Hypoplastic helices	27161	AGO2	OMIM:619149
HP:0008589	Hypoplastic helices	5053	PAH	ORPHA:2209
HP:0008589	Hypoplastic helices	5087	PBX1	OMIM:617641
HP:0034434	Abnormal communication	55703	POLR3B	OMIM:614381
HP:0034434	Abnormal communication	55703	POLR3B	OMIM:619742
HP:0034434	Abnormal communication	51256	TBC1D7	OMIM:248000
HP:0034434	Abnormal communication	23135	KDM6B	OMIM:618505
HP:0034434	Abnormal communication	84334	COA8	ORPHA:436271
HP:0034434	Abnormal communication	84334	COA8	OMIM:619061
HP:0034434	Abnormal communication	5457	POU4F1	ORPHA:314647
HP:0034434	Abnormal communication	23261	CAMTA1	ORPHA:314647
HP:0034434	Abnormal communication	23261	CAMTA1	OMIM:614756
HP:0034434	Abnormal communication	55209	SETD5	ORPHA:404440
HP:0034434	Abnormal communication	55209	SETD5	OMIM:615761
HP:0034434	Abnormal communication	4125	MAN2B1	ORPHA:309282
HP:0034434	Abnormal communication	4125	MAN2B1	ORPHA:309288
HP:0034434	Abnormal communication	24137	KIF4A	OMIM:300923
HP:0034434	Abnormal communication	8942	KYNU	OMIM:617661
HP:0034434	Abnormal communication	55904	KMT2E	OMIM:618512
HP:0034434	Abnormal communication	318	NUDT2	OMIM:619844
HP:0034434	Abnormal communication	2132	EXT2	ORPHA:466926
HP:0034434	Abnormal communication	57082	KNL1	OMIM:604321
HP:0034434	Abnormal communication	2192	FBLN1	ORPHA:404451
HP:0034434	Abnormal communication	2188	FANCF	OMIM:603467
HP:0034434	Abnormal communication	284403	WDR62	OMIM:604317
HP:0034434	Abnormal communication	8029	CUBN	ORPHA:35858
HP:0034434	Abnormal communication	81693	AMN	ORPHA:35858
HP:0034434	Abnormal communication	7054	TH	OMIM:605407
HP:0034434	Abnormal communication	7054	TH	ORPHA:101150
HP:0034434	Abnormal communication	288	ANK3	OMIM:615493
HP:0034434	Abnormal communication	288	ANK3	ORPHA:356996
HP:0034434	Abnormal communication	818	CAMK2G	OMIM:618522
HP:0034434	Abnormal communication	55154	MSTO1	OMIM:617675
HP:0034434	Abnormal communication	55154	MSTO1	ORPHA:502423
HP:0034434	Abnormal communication	64359	NXN	OMIM:618529
HP:0034434	Abnormal communication	7436	VLDLR	OMIM:224050
HP:0034434	Abnormal communication	4091	SMAD6	OMIM:617439
HP:0034434	Abnormal communication	84100	ARL6	OMIM:209900
HP:0034434	Abnormal communication	79140	CCDC28B	OMIM:209900
HP:0034434	Abnormal communication	582	BBS1	OMIM:209900
HP:0034434	Abnormal communication	85465	SELENOI	OMIM:618768
HP:0034434	Abnormal communication	4330	MN1	OMIM:618774
HP:0034434	Abnormal communication	5833	PCYT2	OMIM:618770
HP:0034434	Abnormal communication	3340	NDST1	OMIM:616116
HP:0034434	Abnormal communication	5373	PMM2	OMIM:212065
HP:0034434	Abnormal communication	5373	PMM2	ORPHA:79318
HP:0034434	Abnormal communication	8493	PPM1D	OMIM:617450
HP:0034434	Abnormal communication	26038	CHD5	OMIM:619873
HP:0034434	Abnormal communication	55621	TRMT1	OMIM:618302
HP:0034434	Abnormal communication	8558	CDK10	OMIM:617694
HP:0034434	Abnormal communication	9354	UBE4A	OMIM:619639
HP:0034434	Abnormal communication	55280	CWF19L1	OMIM:616127
HP:0034434	Abnormal communication	55280	CWF19L1	ORPHA:453521
HP:0034434	Abnormal communication	3098	HK1	OMIM:618547
HP:0034434	Abnormal communication	5621	PRNP	ORPHA:157941
HP:0034434	Abnormal communication	2232	FDXR	ORPHA:543470
HP:0034434	Abnormal communication	200424	TET3	OMIM:618798
HP:0034434	Abnormal communication	9772	TMEM94	OMIM:618316
HP:0034434	Abnormal communication	79971	WLS	OMIM:619648
HP:0034434	Abnormal communication	9711	RUBCN	ORPHA:404499
HP:0034434	Abnormal communication	9711	RUBCN	OMIM:615705
HP:0034434	Abnormal communication	5981	RFC1	ORPHA:504476
HP:0034434	Abnormal communication	55739	NAXD	OMIM:618321
HP:0034434	Abnormal communication	7143	TNR	OMIM:619653
HP:0034434	Abnormal communication	25836	NIPBL	OMIM:122470
HP:0034434	Abnormal communication	374969	SVBP	OMIM:618569
HP:0034434	Abnormal communication	2778	GNAS	ORPHA:79445
HP:0034434	Abnormal communication	2055	CLN8	OMIM:600143
HP:0034434	Abnormal communication	2055	CLN8	ORPHA:1947
HP:0034434	Abnormal communication	1523	CUX1	OMIM:618330
HP:0034434	Abnormal communication	120	ADD3	OMIM:617008
HP:0034434	Abnormal communication	4212	MEIS2	ORPHA:261190
HP:0034434	Abnormal communication	6443	SGCB	ORPHA:119
HP:0034434	Abnormal communication	9949	AMMECR1	OMIM:300990
HP:0034434	Abnormal communication	57526	PCDH19	ORPHA:101039
HP:0034434	Abnormal communication	695	BTK	OMIM:300755
HP:0034434	Abnormal communication	1281	COL3A1	OMIM:618343
HP:0034434	Abnormal communication	123606	NIPA1	ORPHA:261183
HP:0034434	Abnormal communication	7283	TUBG1	ORPHA:261183
HP:0034434	Abnormal communication	81614	NIPA2	ORPHA:261183
HP:0034434	Abnormal communication	54517	PUS7	OMIM:618342
HP:0034434	Abnormal communication	10765	KDM5B	OMIM:618109
HP:0034434	Abnormal communication	4967	OGDH	OMIM:203740
HP:0034434	Abnormal communication	57122	NUP107	OMIM:618348
HP:0034434	Abnormal communication	57122	NUP107	OMIM:616730
HP:0034434	Abnormal communication	6418	SET	OMIM:618106
HP:0034434	Abnormal communication	56623	INPP5E	OMIM:213300
HP:0034434	Abnormal communication	56623	INPP5E	ORPHA:75858
HP:0034434	Abnormal communication	56623	INPP5E	OMIM:610156
HP:0034434	Abnormal communication	50814	NSDHL	ORPHA:251383
HP:0034434	Abnormal communication	50814	NSDHL	OMIM:300831
HP:0034434	Abnormal communication	3708	ITPR1	ORPHA:208513
HP:0034434	Abnormal communication	3708	ITPR1	OMIM:117360
HP:0034434	Abnormal communication	7681	MKRN3	OMIM:176270
HP:0034434	Abnormal communication	3653	IPW	OMIM:176270
HP:0034434	Abnormal communication	791114	PWRN1	OMIM:176270
HP:0034434	Abnormal communication	100033413	SNORD116-1	OMIM:176270
HP:0034434	Abnormal communication	145624	PWAR1	OMIM:176270
HP:0034434	Abnormal communication	23742	NPAP1	OMIM:176270
HP:0034434	Abnormal communication	338433	SNORD115-1	OMIM:176270
HP:0034434	Abnormal communication	1120	CHKB	OMIM:602541
HP:0034434	Abnormal communication	5515	PPP2CA	OMIM:618354
HP:0034434	Abnormal communication	6096	RORB	OMIM:618357
HP:0034434	Abnormal communication	112755	STX1B	OMIM:616172
HP:0034434	Abnormal communication	116461	TSEN15	OMIM:617026
HP:0034434	Abnormal communication	55262	TRAPPC14	OMIM:618351
HP:0034434	Abnormal communication	6492	SIM1	ORPHA:171829
HP:0034434	Abnormal communication	6492	SIM1	ORPHA:398079
HP:0034434	Abnormal communication	23043	TNIK	OMIM:617028
HP:0034434	Abnormal communication	8888	MCM3AP	OMIM:618124
HP:0034434	Abnormal communication	51132	RLIM	OMIM:300978
HP:0034434	Abnormal communication	10588	MTHFS	OMIM:618367
HP:0034434	Abnormal communication	2334	AFF2	OMIM:309548
HP:0034434	Abnormal communication	2334	AFF2	ORPHA:100973
HP:0034434	Abnormal communication	24140	FTSJ1	OMIM:309549
HP:0034434	Abnormal communication	513	ATP5F1D	OMIM:618120
HP:0034434	Abnormal communication	92255	LMBRD2	OMIM:619694
HP:0034434	Abnormal communication	27341	RRP7A	OMIM:619453
HP:0034434	Abnormal communication	2019	EN1	OMIM:619218
HP:0034434	Abnormal communication	549	AUH	OMIM:250950
HP:0034434	Abnormal communication	549	AUH	ORPHA:67046
HP:0034434	Abnormal communication	5805	PTS	ORPHA:13
HP:0034434	Abnormal communication	56776	FMN2	OMIM:616193
HP:0034434	Abnormal communication	23111	SPART	ORPHA:101000
HP:0034434	Abnormal communication	2068	ERCC2	OMIM:601675
HP:0034434	Abnormal communication	1760	DMPK	ORPHA:589821
HP:0034434	Abnormal communication	84892	POMGNT2	OMIM:618135
HP:0034434	Abnormal communication	63931	MRPS14	OMIM:618378
HP:0034434	Abnormal communication	164	AP1G1	OMIM:619467
HP:0034434	Abnormal communication	164	AP1G1	OMIM:619548
HP:0034434	Abnormal communication	9757	KMT2B	OMIM:617284
HP:0034434	Abnormal communication	7253	TSHR	OMIM:609152
HP:0034434	Abnormal communication	50801	KCNK4	OMIM:618381
HP:0034434	Abnormal communication	84065	TMEM222	OMIM:619470
HP:0034434	Abnormal communication	26160	IFT172	OMIM:619471
HP:0034434	Abnormal communication	11212	PLPBP	OMIM:617290
HP:0034434	Abnormal communication	55697	VAC14	OMIM:617054
HP:0034434	Abnormal communication	57498	KIDINS220	OMIM:617296
HP:0034434	Abnormal communication	8812	CCNK	OMIM:618147
HP:0034434	Abnormal communication	57187	THOC2	OMIM:300957
HP:0034434	Abnormal communication	57187	THOC2	ORPHA:457240
HP:0034434	Abnormal communication	9851	KIAA0753	OMIM:619479
HP:0034434	Abnormal communication	27107	ZBTB11	OMIM:618383
HP:0034434	Abnormal communication	7737	RNF113A	OMIM:300953
HP:0034434	Abnormal communication	4361	MRE11	ORPHA:251347
HP:0034434	Abnormal communication	4361	MRE11	OMIM:604391
HP:0034434	Abnormal communication	8452	CUL3	OMIM:619239
HP:0034434	Abnormal communication	6608	SMO	OMIM:241800
HP:0034434	Abnormal communication	10283	CWC27	ORPHA:166035
HP:0034434	Abnormal communication	10283	CWC27	OMIM:250410
HP:0034434	Abnormal communication	2887	GRB10	ORPHA:96182
HP:0034434	Abnormal communication	203068	TUBB	OMIM:156610
HP:0034434	Abnormal communication	203068	TUBB	OMIM:615771
HP:0034434	Abnormal communication	8567	MADD	OMIM:619004
HP:0034434	Abnormal communication	8567	MADD	OMIM:619005
HP:0034434	Abnormal communication	4841	NONO	OMIM:300967
HP:0034434	Abnormal communication	4841	NONO	ORPHA:466791
HP:0034434	Abnormal communication	8239	USP9X	OMIM:300968
HP:0034434	Abnormal communication	23067	SETD1B	OMIM:619000
HP:0034434	Abnormal communication	23112	TNRC6B	OMIM:619243
HP:0034434	Abnormal communication	9373	PLAA	ORPHA:521426
HP:0034434	Abnormal communication	5625	PRODH	OMIM:239500
HP:0034434	Abnormal communication	23387	SIK3	OMIM:618162
HP:0034434	Abnormal communication	84231	TRAF7	OMIM:618164
HP:0034434	Abnormal communication	8242	KDM5C	ORPHA:85279
HP:0034434	Abnormal communication	8242	KDM5C	OMIM:300534
HP:0034434	Abnormal communication	284058	KANSL1	OMIM:610443
HP:0034434	Abnormal communication	284058	KANSL1	ORPHA:363958
HP:0034434	Abnormal communication	284058	KANSL1	ORPHA:363965
HP:0034434	Abnormal communication	51082	POLR1D	OMIM:613717
HP:0034434	Abnormal communication	2801	GOLGA2	OMIM:620240
HP:0034434	Abnormal communication	284361	EMC10	OMIM:619264
HP:0034434	Abnormal communication	8398	PLA2G6	OMIM:610217
HP:0034434	Abnormal communication	8398	PLA2G6	OMIM:256600
HP:0034434	Abnormal communication	8398	PLA2G6	ORPHA:35069
HP:0034434	Abnormal communication	55294	FBXW7	OMIM:620012
HP:0034434	Abnormal communication	9131	AIFM1	ORPHA:238329
HP:0034434	Abnormal communication	6095	RORA	OMIM:618060
HP:0034434	Abnormal communication	5138	PDE2A	OMIM:619150
HP:0034434	Abnormal communication	6535	SLC6A8	OMIM:300352
HP:0034434	Abnormal communication	6535	SLC6A8	ORPHA:52503
HP:0034434	Abnormal communication	26960	NBEA	OMIM:619157
HP:0034434	Abnormal communication	23241	PACS2	OMIM:618067
HP:0034434	Abnormal communication	10466	COG5	OMIM:613612
HP:0034434	Abnormal communication	10466	COG5	ORPHA:263487
HP:0034434	Abnormal communication	123263	MTFMT	OMIM:614947
HP:0034434	Abnormal communication	340990	OTOG	OMIM:614945
HP:0034434	Abnormal communication	51343	FZR1	OMIM:620145
HP:0034434	Abnormal communication	51343	FZR1	ORPHA:442835
HP:0034434	Abnormal communication	10093	ARPC4	OMIM:620141
HP:0034434	Abnormal communication	5447	POR	ORPHA:95699
HP:0034434	Abnormal communication	3199	HOXA2	ORPHA:83463
HP:0034434	Abnormal communication	4010	LMX1B	ORPHA:495818
HP:0034434	Abnormal communication	2314	FLII	ORPHA:819
HP:0034434	Abnormal communication	55780	ERMARD	ORPHA:75857
HP:0034434	Abnormal communication	55780	ERMARD	OMIM:615544
HP:0034434	Abnormal communication	9382	COG1	OMIM:611209
HP:0034434	Abnormal communication	8913	CACNA1G	OMIM:618087
HP:0034434	Abnormal communication	80204	FBXO11	OMIM:618089
HP:0034434	Abnormal communication	93627	TBCK	OMIM:616900
HP:0034434	Abnormal communication	93627	TBCK	ORPHA:488632
HP:0034434	Abnormal communication	80254	CEP63	OMIM:614728
HP:0034434	Abnormal communication	23325	WASHC4	OMIM:615817
HP:0034434	Abnormal communication	56984	PSMG2	OMIM:619183
HP:0034434	Abnormal communication	57531	HACE1	ORPHA:464282
HP:0034434	Abnormal communication	84823	LMNB2	OMIM:619180
HP:0034434	Abnormal communication	23036	ZNF292	OMIM:619188
HP:0034434	Abnormal communication	23545	ATP6V0A2	OMIM:278250
HP:0034434	Abnormal communication	23545	ATP6V0A2	ORPHA:2834
HP:0034434	Abnormal communication	23545	ATP6V0A2	ORPHA:357074
HP:0034434	Abnormal communication	25942	SIN3A	OMIM:613406
HP:0034434	Abnormal communication	175	AGA	ORPHA:93
HP:0034434	Abnormal communication	175	AGA	OMIM:208400
HP:0034434	Abnormal communication	9653	HS2ST1	OMIM:619194
HP:0034434	Abnormal communication	10841	FTCD	ORPHA:51208
HP:0034434	Abnormal communication	5063	PAK3	OMIM:300558
HP:0034434	Abnormal communication	26053	AUTS2	OMIM:615834
HP:0034434	Abnormal communication	26053	AUTS2	ORPHA:352490
HP:0034434	Abnormal communication	3211	HOXB1	OMIM:614744
HP:0034434	Abnormal communication	773	CACNA1A	ORPHA:2131
HP:0034434	Abnormal communication	773	CACNA1A	ORPHA:442835
HP:0034434	Abnormal communication	6507	SLC1A3	ORPHA:2131
HP:0034434	Abnormal communication	478	ATP1A3	ORPHA:2131
HP:0034434	Abnormal communication	478	ATP1A3	ORPHA:442835
HP:0034434	Abnormal communication	84720	PIGO	OMIM:614749
HP:0034434	Abnormal communication	283209	PGM2L1	OMIM:620191
HP:0034434	Abnormal communication	79228	THOC6	ORPHA:363444
HP:0034434	Abnormal communication	2316	FLNA	OMIM:300321
HP:0034434	Abnormal communication	23522	KAT6B	ORPHA:85201
HP:0034434	Abnormal communication	182	JAG1	OMIM:118450
HP:0034434	Abnormal communication	34	ACADM	ORPHA:42
HP:0034434	Abnormal communication	55084	SOBP	OMIM:613671
HP:0034434	Abnormal communication	55149	MTPAP	OMIM:613672
HP:0034434	Abnormal communication	2146	EZH2	OMIM:277590
HP:0034434	Abnormal communication	57465	TBC1D24	ORPHA:352582
HP:0034434	Abnormal communication	226	ALDOA	ORPHA:57
HP:0034434	Abnormal communication	6567	SLC16A2	ORPHA:59
HP:0034434	Abnormal communication	124997	WDR81	OMIM:610185
HP:0034434	Abnormal communication	8733	GPAA1	OMIM:617810
HP:0034434	Abnormal communication	8733	GPAA1	ORPHA:529665
HP:0034434	Abnormal communication	89891	DYNC2I2	OMIM:615633
HP:0034434	Abnormal communication	132	ADK	OMIM:614300
HP:0034434	Abnormal communication	11133	KPTN	OMIM:615637
HP:0034434	Abnormal communication	11133	KPTN	ORPHA:397612
HP:0034434	Abnormal communication	6334	SCN8A	OMIM:614306
HP:0034434	Abnormal communication	6334	SCN8A	ORPHA:442835
HP:0034434	Abnormal communication	23028	KDM1A	OMIM:616728
HP:0034434	Abnormal communication	23028	KDM1A	ORPHA:477993
HP:0034434	Abnormal communication	26115	TANC2	OMIM:618906
HP:0034434	Abnormal communication	3981	LIG4	OMIM:606593
HP:0034434	Abnormal communication	26580	BSCL2	ORPHA:363400
HP:0034434	Abnormal communication	26580	BSCL2	OMIM:615924
HP:0034434	Abnormal communication	23291	FBXW11	OMIM:618914
HP:0034434	Abnormal communication	4893	NRAS	OMIM:613224
HP:0034434	Abnormal communication	10982	MAPRE2	OMIM:616734
HP:0034434	Abnormal communication	3176	HNMT	OMIM:616739
HP:0034434	Abnormal communication	4131	MAP1B	OMIM:618918
HP:0034434	Abnormal communication	84679	SLC9A7	OMIM:301024
HP:0034434	Abnormal communication	90161	HS6ST2	OMIM:301025
HP:0034434	Abnormal communication	63035	BCORL1	OMIM:301029
HP:0034434	Abnormal communication	116150	NUS1	OMIM:617831
HP:0034434	Abnormal communication	116150	NUS1	ORPHA:442835
HP:0034434	Abnormal communication	79947	DHDDS	OMIM:617836
HP:0034434	Abnormal communication	79947	DHDDS	ORPHA:442835
HP:0034434	Abnormal communication	91137	SLC25A46	OMIM:616505
HP:0034434	Abnormal communication	6678	SPARC	OMIM:616507
HP:0034434	Abnormal communication	4041	LRP5	ORPHA:2788
HP:0034434	Abnormal communication	23152	CIC	OMIM:617600
HP:0034434	Abnormal communication	9343	EFTUD2	ORPHA:79113
HP:0034434	Abnormal communication	9343	EFTUD2	OMIM:610536
HP:0034434	Abnormal communication	10664	CTCF	ORPHA:363611
HP:0034434	Abnormal communication	10367	MICU1	OMIM:615673
HP:0034434	Abnormal communication	8270	LAGE3	OMIM:301006
HP:0034434	Abnormal communication	117581	TWIST2	OMIM:209885
HP:0034434	Abnormal communication	117581	TWIST2	OMIM:200110
HP:0034434	Abnormal communication	117581	TWIST2	ORPHA:920
HP:0034434	Abnormal communication	23040	MYT1L	OMIM:616521
HP:0034434	Abnormal communication	8936	WASF1	OMIM:618707
HP:0034434	Abnormal communication	6697	SPR	ORPHA:70594
HP:0034434	Abnormal communication	26503	SLC17A5	OMIM:604369
HP:0034434	Abnormal communication	80210	ARMC9	OMIM:617622
HP:0034434	Abnormal communication	259266	ASPM	OMIM:608716
HP:0034434	Abnormal communication	54888	NSUN2	OMIM:611091
HP:0034434	Abnormal communication	7518	XRCC4	OMIM:616541
HP:0034434	Abnormal communication	10274	STAG1	OMIM:617635
HP:0034434	Abnormal communication	51317	PHF21A	OMIM:618725
HP:0034434	Abnormal communication	1788	DNMT3A	OMIM:618724
HP:0034434	Abnormal communication	3778	KCNMA1	OMIM:618729
HP:0034434	Abnormal communication	3778	KCNMA1	OMIM:617643
HP:0034434	Abnormal communication	5573	PRKAR1A	ORPHA:280651
HP:0034434	Abnormal communication	5144	PDE4D	ORPHA:280651
HP:0034434	Abnormal communication	5144	PDE4D	OMIM:614613
HP:0034434	Abnormal communication	2182	ACSL4	OMIM:300387
HP:0034434	Abnormal communication	9699	RIMS2	OMIM:618970
HP:0034434	Abnormal communication	1968	EIF2S3	OMIM:300148
HP:0034434	Abnormal communication	672	BRCA1	OMIM:617883
HP:0034434	Abnormal communication	5087	PBX1	OMIM:617641
HP:0034434	Abnormal communication	84148	KAT8	OMIM:618974
HP:0034434	Abnormal communication	157657	CFAP418	OMIM:617406
HP:0034434	Abnormal communication	27034	ACAD8	ORPHA:79159
HP:0034434	Abnormal communication	8367	H4C5	OMIM:619950
HP:0034434	Abnormal communication	91452	ACBD5	OMIM:618863
HP:0034434	Abnormal communication	9853	RUSC2	OMIM:617773
HP:0034434	Abnormal communication	9524	TECR	OMIM:614020
HP:0034434	Abnormal communication	4750	NEK1	OMIM:263520
HP:0034434	Abnormal communication	23446	SLC44A1	OMIM:618868
HP:0034434	Abnormal communication	2895	GRID2	OMIM:616204
HP:0034434	Abnormal communication	10054	UBA2	OMIM:619959
HP:0034434	Abnormal communication	2972	BRF1	OMIM:616202
HP:0034434	Abnormal communication	3703	STT3A	OMIM:619714
HP:0034434	Abnormal communication	84942	WDR73	OMIM:251300
HP:0034434	Abnormal communication	116931	MED12L	OMIM:618872
HP:0034434	Abnormal communication	3020	H3-3A	OMIM:619720
HP:0034434	Abnormal communication	7552	ZNF711	OMIM:300803
HP:0034434	Abnormal communication	1630	DCC	OMIM:617542
HP:0034434	Abnormal communication	80155	NAA15	OMIM:617787
HP:0034434	Abnormal communication	472	ATM	OMIM:208900
HP:0034434	Abnormal communication	10501	SEMA6B	OMIM:618876
HP:0034434	Abnormal communication	8309	ACOX2	OMIM:617308
HP:0034434	Abnormal communication	57156	TMEM63C	OMIM:619966
HP:0034434	Abnormal communication	27102	EIF2AK1	OMIM:618878
HP:0034434	Abnormal communication	3781	KCNN2	OMIM:619725
HP:0034434	Abnormal communication	5189	PEX1	OMIM:214100
HP:0034434	Abnormal communication	5189	PEX1	OMIM:601539
HP:0034434	Abnormal communication	6660	SOX5	ORPHA:313892
HP:0034434	Abnormal communication	6660	SOX5	OMIM:616803
HP:0034434	Abnormal communication	137492	VPS37A	ORPHA:319199
HP:0034434	Abnormal communication	137492	VPS37A	OMIM:614898
HP:0034434	Abnormal communication	83696	TRAPPC9	OMIM:613192
HP:0034434	Abnormal communication	129685	TAF8	OMIM:619972
HP:0034434	Abnormal communication	535	ATP6V0A1	OMIM:619970
HP:0034434	Abnormal communication	23184	MESD	OMIM:618644
HP:0034434	Abnormal communication	51319	RSRC1	OMIM:618402
HP:0034434	Abnormal communication	8726	EED	OMIM:617561
HP:0034434	Abnormal communication	10715	CERS1	OMIM:616230
HP:0034434	Abnormal communication	1656	DDX6	OMIM:618653
HP:0034434	Abnormal communication	6712	SPTBN2	OMIM:615386
HP:0034434	Abnormal communication	6712	SPTBN2	ORPHA:352403
HP:0034434	Abnormal communication	4297	KMT2A	ORPHA:319182
HP:0034434	Abnormal communication	4297	KMT2A	OMIM:605130
HP:0034434	Abnormal communication	55714	TENM3	OMIM:615145
HP:0034434	Abnormal communication	83636	C19orf12	OMIM:614298
HP:0034434	Abnormal communication	833	CARS1	OMIM:618891
HP:0034434	Abnormal communication	57178	ZMIZ1	OMIM:618659
HP:0034434	Abnormal communication	2783	GNB2	OMIM:619503
HP:0034434	Abnormal communication	26057	ANKRD17	OMIM:619504
HP:0034434	Abnormal communication	22906	TRAK1	ORPHA:442835
HP:0034434	Abnormal communication	7532	YWHAG	ORPHA:442835
HP:0034434	Abnormal communication	2558	GABRA5	ORPHA:442835
HP:0034434	Abnormal communication	10659	CELF2	ORPHA:442835
HP:0034434	Abnormal communication	10659	CELF2	OMIM:619561
HP:0034434	Abnormal communication	51741	WWOX	ORPHA:442835
HP:0034434	Abnormal communication	51741	WWOX	ORPHA:284282
HP:0034434	Abnormal communication	8867	SYNJ1	ORPHA:442835
HP:0034434	Abnormal communication	25977	NECAP1	ORPHA:442835
HP:0034434	Abnormal communication	16	AARS1	ORPHA:442835
HP:0034434	Abnormal communication	23097	CDK19	ORPHA:442835
HP:0034434	Abnormal communication	64801	ARV1	ORPHA:442835
HP:0034434	Abnormal communication	55623	THUMPD1	OMIM:619989
HP:0034434	Abnormal communication	284439	SLC25A42	OMIM:618416
HP:0034434	Abnormal communication	253738	EBF3	OMIM:617330
HP:0034434	Abnormal communication	56006	SMG9	OMIM:619995
HP:0034434	Abnormal communication	29081	METTL5	OMIM:618665
HP:0034434	Abnormal communication	10717	AP4B1	OMIM:614066
HP:0034434	Abnormal communication	7862	BRPF1	OMIM:617333
HP:0034434	Abnormal communication	54914	FOCAD	OMIM:619991
HP:0034434	Abnormal communication	7701	ZNF142	OMIM:618425
HP:0034434	Abnormal communication	6899	TBX1	ORPHA:1727
HP:0034434	Abnormal communication	6899	TBX1	OMIM:188400
HP:0034434	Abnormal communication	26137	ZBTB20	OMIM:259050
HP:0034434	Abnormal communication	8314	BAP1	OMIM:619762
HP:0034434	Abnormal communication	10021	HCN4	OMIM:619521
HP:0034434	Abnormal communication	7750	ZMYM2	OMIM:619522
HP:0034434	Abnormal communication	6942	TCF20	OMIM:618430
HP:0034434	Abnormal communication	2720	GLB1	OMIM:230650
HP:0034434	Abnormal communication	10297	APC2	OMIM:618677
HP:0034434	Abnormal communication	10297	APC2	OMIM:617169
HP:0034434	Abnormal communication	256471	MFSD8	OMIM:610951
HP:0034434	Abnormal communication	51341	ZBTB7A	OMIM:619769
HP:0034434	Abnormal communication	9338	TCEAL1	OMIM:301094
HP:0034434	Abnormal communication	4123	MAN2C1	OMIM:619775
HP:0034434	Abnormal communication	54941	RNF125	OMIM:616260
HP:0034434	Abnormal communication	10463	SLC30A9	OMIM:617595
HP:0034434	Abnormal communication	57479	PRR12	OMIM:619539
HP:0034434	Abnormal communication	1107	CHD3	OMIM:618205
HP:0034434	Abnormal communication	80173	IFT74	OMIM:617119
HP:0034434	Abnormal communication	79087	ALG12	ORPHA:79324
HP:0034434	Abnormal communication	1173	AP2M1	ORPHA:1942
HP:0034434	Abnormal communication	1106	CHD2	ORPHA:1942
HP:0034434	Abnormal communication	6529	SLC6A1	ORPHA:1942
HP:0034434	Abnormal communication	25981	DNAH1	ORPHA:244
HP:0034434	Abnormal communication	115948	ODAD3	ORPHA:244
HP:0034434	Abnormal communication	54768	HYDIN	ORPHA:244
HP:0034434	Abnormal communication	352909	DNAAF3	ORPHA:244
HP:0034434	Abnormal communication	27148	STK36	ORPHA:244
HP:0034434	Abnormal communication	51314	NME8	ORPHA:244
HP:0034434	Abnormal communication	92749	DRC1	ORPHA:244
HP:0034434	Abnormal communication	54970	TTC12	ORPHA:244
HP:0034434	Abnormal communication	152110	NEK10	ORPHA:244
HP:0034434	Abnormal communication	8481	OFD1	ORPHA:244
HP:0034434	Abnormal communication	2302	FOXJ1	ORPHA:244
HP:0034434	Abnormal communication	221421	RSPH9	ORPHA:244
HP:0034434	Abnormal communication	85478	CCDC65	ORPHA:244
HP:0034434	Abnormal communication	55036	CCDC40	ORPHA:244
HP:0034434	Abnormal communication	51364	ZMYND10	ORPHA:244
HP:0034434	Abnormal communication	64446	DNAI2	ORPHA:244
HP:0034434	Abnormal communication	6674	SPAG1	ORPHA:244
HP:0034434	Abnormal communication	83544	DNAL1	ORPHA:244
HP:0034434	Abnormal communication	89765	RSPH1	ORPHA:244
HP:0034434	Abnormal communication	83538	ODAD4	ORPHA:244
HP:0034434	Abnormal communication	200373	CFAP221	ORPHA:244
HP:0034434	Abnormal communication	374407	DNAJB13	ORPHA:244
HP:0034434	Abnormal communication	55172	DNAAF2	ORPHA:244
HP:0034434	Abnormal communication	161582	DNAAF4	ORPHA:244
HP:0034434	Abnormal communication	2622	GAS8	ORPHA:244
HP:0034434	Abnormal communication	23639	DNAAF11	ORPHA:244
HP:0034434	Abnormal communication	27019	DNAI1	ORPHA:244
HP:0034434	Abnormal communication	345895	RSPH4A	ORPHA:244
HP:0034434	Abnormal communication	54919	DNAAF5	ORPHA:244
HP:0034434	Abnormal communication	6103	RPGR	ORPHA:244
HP:0034434	Abnormal communication	388389	CCDC103	ORPHA:244
HP:0034434	Abnormal communication	93233	ODAD1	ORPHA:244
HP:0034434	Abnormal communication	55130	ODAD2	ORPHA:244
HP:0034434	Abnormal communication	1767	DNAH5	ORPHA:244
HP:0034434	Abnormal communication	83861	RSPH3	ORPHA:244
HP:0034434	Abnormal communication	345643	MCIDAS	ORPHA:244
HP:0034434	Abnormal communication	56683	CFAP298	ORPHA:244
HP:0034434	Abnormal communication	79925	SPEF2	ORPHA:244
HP:0034434	Abnormal communication	10309	CCNO	ORPHA:244
HP:0034434	Abnormal communication	115399	LRRC56	ORPHA:244
HP:0034434	Abnormal communication	139212	DNAAF6	ORPHA:244
HP:0034434	Abnormal communication	123872	DNAAF1	ORPHA:244
HP:0034434	Abnormal communication	85016	CFAP300	ORPHA:244
HP:0034434	Abnormal communication	339829	CCDC39	ORPHA:244
HP:0034434	Abnormal communication	8701	DNAH11	ORPHA:244
HP:0034434	Abnormal communication	1770	DNAH9	ORPHA:244
HP:0034434	Abnormal communication	246176	GAS2L2	ORPHA:244
HP:0034434	Abnormal communication	10262	SF3B4	ORPHA:245
HP:0034434	Abnormal communication	10262	SF3B4	OMIM:154400
HP:0034434	Abnormal communication	2742	GLRA2	OMIM:301076
HP:0034434	Abnormal communication	9896	FIG4	ORPHA:208441
HP:0034434	Abnormal communication	26100	WIPI2	OMIM:618453
HP:0034434	Abnormal communication	8621	CDK13	OMIM:617360
HP:0034434	Abnormal communication	5256	PHKA2	ORPHA:264580
HP:0034434	Abnormal communication	5261	PHKG2	ORPHA:264580
HP:0034434	Abnormal communication	5587	PRKD1	OMIM:617364
HP:0034434	Abnormal communication	54808	DYM	ORPHA:239
HP:0034434	Abnormal communication	55217	TMLHE	OMIM:300872
HP:0034434	Abnormal communication	6477	SIAH1	OMIM:619314
HP:0034434	Abnormal communication	57102	C12orf4	OMIM:618221
HP:0034434	Abnormal communication	55628	ZNF407	OMIM:619557
HP:0034434	Abnormal communication	9256	TSPOAP1	ORPHA:101150
HP:0034434	Abnormal communication	56521	DNAJC12	OMIM:617384
HP:0034434	Abnormal communication	3714	JAG2	OMIM:619566
HP:0034434	Abnormal communication	23030	KDM4B	OMIM:619320
HP:0034434	Abnormal communication	5010	CLDN11	OMIM:619328
HP:0034434	Abnormal communication	1725	DHPS	OMIM:618480
HP:0034434	Abnormal communication	1741	DLG3	OMIM:300850
HP:0034434	Abnormal communication	57551	TAOK1	OMIM:619575
HP:0034434	Abnormal communication	25929	GEMIN5	OMIM:619333
HP:0034434	Abnormal communication	79641	ROGDI	OMIM:226750
HP:0034434	Abnormal communication	54496	PRMT7	OMIM:617157
HP:0034434	Abnormal communication	84188	FAR1	OMIM:619338
HP:0034434	Abnormal communication	9969	MED13	OMIM:618009
HP:0034434	Abnormal communication	92344	GORAB	OMIM:231070
HP:0034434	Abnormal communication	10157	AASS	OMIM:238700
HP:0034434	Abnormal communication	10157	AASS	ORPHA:2203
HP:0034434	Abnormal communication	23203	PMPCA	OMIM:213200
HP:0034434	Abnormal communication	23203	PMPCA	ORPHA:1170
HP:0034434	Abnormal communication	23389	MED13L	ORPHA:369891
HP:0034434	Abnormal communication	1781	DYNC1I2	OMIM:618492
HP:0034434	Abnormal communication	9496	TBX4	ORPHA:261279
HP:0034434	Abnormal communication	8091	HMGA2	ORPHA:94063
HP:0034434	Abnormal communication	8091	HMGA2	ORPHA:397590
HP:0034434	Abnormal communication	23592	LEMD3	ORPHA:94063
HP:0034434	Abnormal communication	22808	MRAS	OMIM:618499
HP:0034434	Abnormal communication	8635	RNASET2	OMIM:612951
HP:0034434	Abnormal communication	23594	ORC6	OMIM:613803
HP:0034434	Abnormal communication	1756	DMD	ORPHA:98896
HP:0034434	Abnormal communication	8425	LTBP4	ORPHA:98896
HP:0034434	Abnormal communication	80185	TTI2	ORPHA:391307
HP:0034434	Abnormal communication	80185	TTI2	OMIM:615541
HP:0034434	Abnormal communication	2628	GATM	OMIM:612718
HP:0034434	Abnormal communication	10771	ZMYND11	OMIM:616083
HP:0034434	Abnormal communication	7068	THRB	OMIM:188570
HP:0034434	Abnormal communication	35	ACADS	OMIM:201470
HP:0034434	Abnormal communication	35	ACADS	ORPHA:26792
HP:0034434	Abnormal communication	55526	DHTKD1	OMIM:204750
HP:0034434	Abnormal communication	3839	KPNA3	OMIM:620106
HP:0034434	Abnormal communication	79005	SCNM1	OMIM:620107
HP:0034434	Abnormal communication	55210	ATAD3A	OMIM:617183
HP:0034434	Abnormal communication	2077	ERF	OMIM:617180
HP:0034434	Abnormal communication	2077	ERF	OMIM:600775
HP:0034434	Abnormal communication	90522	YIF1B	OMIM:619125
HP:0034434	Abnormal communication	29123	ANKRD11	ORPHA:261250
HP:0034434	Abnormal communication	6197	RPS6KA3	OMIM:300844
HP:0034434	Abnormal communication	1200	TPP1	OMIM:204500
HP:0034434	Abnormal communication	55252	ASXL2	OMIM:617190
HP:0034434	Abnormal communication	4508	MT-ATP6	ORPHA:225154
HP:0034434	Abnormal communication	23636	NUP62	ORPHA:225154
HP:0034434	Abnormal communication	103	ADAR	ORPHA:225154
HP:0034434	Abnormal communication	3739	KCNA4	OMIM:618284
HP:0034434	Abnormal communication	23154	NCDN	OMIM:619373
HP:0034434	Abnormal communication	4781	NFIB	OMIM:618286
HP:0034434	Abnormal communication	55074	OXR1	OMIM:213000
HP:0034434	Abnormal communication	11011	TLK2	OMIM:618050
HP:0034434	Abnormal communication	161742	SPRED1	ORPHA:137605
HP:0034434	Abnormal communication	64858	DCLRE1B	OMIM:620133
HP:0034434	Abnormal communication	3480	IGF1R	OMIM:270450
HP:0034434	Abnormal communication	9325	TRIP4	ORPHA:486815
HP:0034434	Abnormal communication	11113	CIT	OMIM:617090
HP:0034434	Abnormal communication	4702	NDUFA8	OMIM:619272
HP:0034434	Abnormal communication	10128	LRPPRC	OMIM:220111
HP:0034434	Abnormal communication	375	ARF1	OMIM:618185
HP:0034434	Abnormal communication	23019	CNOT1	OMIM:619033
HP:0034434	Abnormal communication	775	CACNA1C	OMIM:620029
HP:0034434	Abnormal communication	132158	GLYCTK	ORPHA:941
HP:0034434	Abnormal communication	501	ALDH7A1	OMIM:266100
HP:0034434	Abnormal communication	9442	MED27	OMIM:619286
HP:0034434	Abnormal communication	4649	MYO9A	OMIM:618198
HP:0034434	Abnormal communication	25914	RTTN	OMIM:614833
HP:0034434	Abnormal communication	7102	TSPAN7	OMIM:300210
HP:0034434	Abnormal communication	116228	COX20	OMIM:619054
HP:0034434	Abnormal communication	26277	TINF2	OMIM:613990
HP:0034434	Abnormal communication	9739	SETD1A	OMIM:619056
HP:0034434	Abnormal communication	340024	SLC6A19	OMIM:234500
HP:0034434	Abnormal communication	10716	TBR1	OMIM:606053
HP:0034434	Abnormal communication	4697	NDUFA4	OMIM:619065
HP:0034434	Abnormal communication	10382	TUBB4A	OMIM:612438
HP:0034434	Abnormal communication	5230	PGK1	ORPHA:713
HP:0034434	Abnormal communication	5230	PGK1	OMIM:300653
HP:0034434	Abnormal communication	7915	ALDH5A1	OMIM:271980
HP:0034434	Abnormal communication	2697	GJA1	OMIM:257850
HP:0034434	Abnormal communication	2615	LRRC32	OMIM:619074
HP:0034434	Abnormal communication	22859	ADGRL1	OMIM:620065
HP:0034434	Abnormal communication	3481	IGF2	ORPHA:397590
HP:0034434	Abnormal communication	1028	CDKN1C	ORPHA:397590
HP:0034434	Abnormal communication	5324	PLAG1	ORPHA:397590
HP:0034434	Abnormal communication	284217	LAMA1	OMIM:615960
HP:0034434	Abnormal communication	284217	LAMA1	ORPHA:370022
HP:0034434	Abnormal communication	286262	TPRN	OMIM:613307
HP:0034434	Abnormal communication	51244	CCDC174	OMIM:616816
HP:0034434	Abnormal communication	54862	CC2D1A	OMIM:608443
HP:0034434	Abnormal communication	23065	EMC1	ORPHA:480898
HP:0034434	Abnormal communication	23065	EMC1	OMIM:616875
HP:0034434	Abnormal communication	22880	MORC2	OMIM:619090
HP:0034434	Abnormal communication	5295	PIK3R1	OMIM:269880
HP:0034434	Abnormal communication	4677	NARS1	OMIM:619091
HP:0034434	Abnormal communication	4677	NARS1	OMIM:619092
HP:0034434	Abnormal communication	50484	RRM2B	OMIM:268315
HP:0034434	Abnormal communication	254065	BRWD3	OMIM:300659
HP:0034434	Abnormal communication	9147	NEMF	OMIM:619099
HP:0034434	Abnormal communication	1384	CRAT	OMIM:617917
HP:0034434	Abnormal communication	85021	REPS1	OMIM:617916
HP:0034434	Abnormal communication	1487	CTBP1	OMIM:617915
HP:0034434	Abnormal communication	197322	ACSF3	ORPHA:289504
HP:0034434	Abnormal communication	9775	EIF4A3	OMIM:268305
HP:0034434	Abnormal communication	93183	PIGM	OMIM:610293
HP:0034434	Abnormal communication	2702	GJA5	OMIM:612474
HP:0034434	Abnormal communication	2703	GJA8	OMIM:612474
HP:0034434	Abnormal communication	867	CBL	OMIM:613563
HP:0034434	Abnormal communication	29072	SETD2	OMIM:616831
HP:0034434	Abnormal communication	3897	L1CAM	ORPHA:2466
HP:0034434	Abnormal communication	51053	GMNN	OMIM:616835
HP:0034434	Abnormal communication	27241	BBS9	OMIM:615986
HP:0034434	Abnormal communication	2719	GPC3	OMIM:312870
HP:0034434	Abnormal communication	2239	GPC4	OMIM:312870
HP:0034434	Abnormal communication	27152	INTU	OMIM:617926
HP:0034434	Abnormal communication	274	BIN1	ORPHA:169186
HP:0034434	Abnormal communication	10290	SPEG	ORPHA:169186
HP:0034434	Abnormal communication	6261	RYR1	ORPHA:169186
HP:0034434	Abnormal communication	7273	TTN	ORPHA:169186
HP:0034434	Abnormal communication	9158	FIBP	ORPHA:500095
HP:0034434	Abnormal communication	4683	NBN	OMIM:251260
HP:0034434	Abnormal communication	9698	PUM1	OMIM:617931
HP:0034434	Abnormal communication	29926	GMPPA	OMIM:615510
HP:0034434	Abnormal communication	658	BMPR1B	OMIM:616849
HP:0034434	Abnormal communication	57511	COG6	ORPHA:363523
HP:0034434	Abnormal communication	57511	COG6	OMIM:615328
HP:0034434	Abnormal communication	113179	ADAT3	ORPHA:363528
HP:0034434	Abnormal communication	55784	MCTP2	ORPHA:1596
HP:0034434	Abnormal communication	5831	PYCR1	OMIM:614438
HP:0034434	Abnormal communication	3736	KCNA1	ORPHA:37612
HP:0034434	Abnormal communication	26224	FBXL3	OMIM:606220
HP:0034434	Abnormal communication	10484	SEC23A	ORPHA:50814
HP:0034434	Abnormal communication	55603	TENT5A	OMIM:617952
HP:0034434	Abnormal communication	26007	TKFC	OMIM:618805
HP:0034434	Abnormal communication	64131	XYLT1	OMIM:615777
HP:0034434	Abnormal communication	5257	PHKB	ORPHA:79240
HP:0034434	Abnormal communication	5718	PSMD12	ORPHA:529962
HP:0034434	Abnormal communication	5718	PSMD12	OMIM:617516
HP:0034434	Abnormal communication	2186	BPTF	ORPHA:529962
HP:0034434	Abnormal communication	2186	BPTF	OMIM:617755
HP:0034434	Abnormal communication	4287	ATXN3	ORPHA:276238
HP:0034434	Abnormal communication	4287	ATXN3	ORPHA:276244
HP:0034434	Abnormal communication	4287	ATXN3	ORPHA:276241
HP:0034434	Abnormal communication	27010	TPK1	OMIM:614458
HP:0034434	Abnormal communication	55644	OSGEP	OMIM:617729
HP:0034434	Abnormal communication	57572	DOCK6	OMIM:614219
HP:0034434	Abnormal communication	54658	UGT1A1	ORPHA:79234
HP:0034434	Abnormal communication	7074	TIAM1	OMIM:619908
HP:0034434	Abnormal communication	2464	FRA16E	OMIM:136570
HP:0034434	Abnormal communication	112858	TP53RK	OMIM:617730
HP:0034434	Abnormal communication	1778	DYNC1H1	OMIM:614228
HP:0034434	Abnormal communication	4929	NR4A2	OMIM:619911
HP:0034434	Abnormal communication	8405	SPOP	OMIM:618828
HP:0034434	Abnormal communication	8405	SPOP	OMIM:618829
HP:0034434	Abnormal communication	54870	QRICH1	OMIM:617982
HP:0034434	Abnormal communication	4780	NFE2L2	OMIM:617744
HP:0034434	Abnormal communication	5500	PPP1CB	OMIM:617506
HP:0034434	Abnormal communication	7291	TWIST1	OMIM:617746
HP:0034434	Abnormal communication	126792	B3GALT6	ORPHA:536467
HP:0034434	Abnormal communication	4047	LSS	OMIM:618840
HP:0034434	Abnormal communication	9320	TRIP12	OMIM:617752
HP:0034434	Abnormal communication	529	ATP6V1E1	ORPHA:357074
HP:0034434	Abnormal communication	51780	KDM3B	OMIM:618846
HP:0034434	Abnormal communication	8575	PRKRA	OMIM:612067
HP:0034434	Abnormal communication	5455	POU3F3	OMIM:618604
HP:0034434	Abnormal communication	119559	SFXN4	OMIM:615578
HP:0034434	Abnormal communication	4848	CNOT2	OMIM:618608
HP:0034434	Abnormal communication	1807	DPYS	OMIM:222748
HP:0034434	Abnormal communication	2639	GCDH	OMIM:231670
HP:0034434	Abnormal communication	23133	PHF8	OMIM:300263
HP:0034434	Abnormal communication	23404	EXOSC2	OMIM:617763
HP:0034434	Abnormal communication	8738	CRADD	OMIM:614499
HP:0034434	Abnormal communication	4858	NOVA2	OMIM:618859
HP:0034434	Abnormal communication	9181	ARHGEF2	OMIM:617523
HP:0034434	Abnormal communication	58499	ZNF462	OMIM:618619
HP:0034434	Abnormal communication	2582	GALE	OMIM:230350
HP:0034434	Abnormal communication	4204	MECP2	OMIM:300496
HP:0034434	Abnormal communication	57502	NLGN4X	OMIM:300495
HP:0034434	Abnormal communication	54413	NLGN3	OMIM:300425
HP:0034434	Abnormal communication	6638	SNRPN	OMIM:209850
HP:0034434	Abnormal communication	56947	MFF	ORPHA:485421
HP:0034434	Abnormal communication	388015	RTL1	ORPHA:254531
HP:0034434	Abnormal communication	8788	DLK1	ORPHA:254531
HP:0034434	Abnormal communication	55384	MEG3	ORPHA:254531
HP:0034434	Abnormal communication	6792	CDKL5	OMIM:300672
HP:0034434	Abnormal communication	6792	CDKL5	ORPHA:3095
HP:0034434	Abnormal communication	6792	CDKL5	ORPHA:505652
HP:0034434	Abnormal communication	25915	NDUFAF3	ORPHA:2609
HP:0034434	Abnormal communication	25915	NDUFAF3	OMIM:618240
HP:0034434	Abnormal communication	51103	NDUFAF1	ORPHA:2609
HP:0034434	Abnormal communication	91942	NDUFAF2	ORPHA:2609
HP:0034434	Abnormal communication	51300	TIMMDC1	ORPHA:2609
HP:0034434	Abnormal communication	4716	NDUFB10	ORPHA:2609
HP:0034434	Abnormal communication	4723	NDUFV1	ORPHA:2609
HP:0034434	Abnormal communication	284184	NDUFAF8	ORPHA:2609
HP:0034434	Abnormal communication	55863	TMEM126B	ORPHA:2609
HP:0034434	Abnormal communication	4535	MT-ND1	ORPHA:2609
HP:0034434	Abnormal communication	4537	MT-ND3	ORPHA:2609
HP:0034434	Abnormal communication	4729	NDUFV2	ORPHA:2609
HP:0034434	Abnormal communication	4694	NDUFA1	ORPHA:2609
HP:0034434	Abnormal communication	4720	NDUFS2	ORPHA:2609
HP:0034434	Abnormal communication	4724	NDUFS4	ORPHA:2609
HP:0034434	Abnormal communication	4724	NDUFS4	OMIM:252010
HP:0034434	Abnormal communication	4726	NDUFS6	ORPHA:2609
HP:0034434	Abnormal communication	4728	NDUFS8	ORPHA:2609
HP:0034434	Abnormal communication	4722	NDUFS3	ORPHA:2609
HP:0034434	Abnormal communication	79133	NDUFAF5	ORPHA:2609
HP:0034434	Abnormal communication	126328	NDUFA11	ORPHA:2609
HP:0034434	Abnormal communication	4709	NDUFB3	ORPHA:2609
HP:0034434	Abnormal communication	80224	NUBPL	ORPHA:2609
HP:0034434	Abnormal communication	29078	NDUFAF4	ORPHA:2609
HP:0034434	Abnormal communication	29078	NDUFAF4	OMIM:618237
HP:0034434	Abnormal communication	374291	NDUFS7	ORPHA:2609
HP:0034434	Abnormal communication	4700	NDUFA6	ORPHA:2609
HP:0034434	Abnormal communication	4536	MT-ND2	ORPHA:2609
HP:0034434	Abnormal communication	4719	NDUFS1	ORPHA:2609
HP:0034434	Abnormal communication	4715	NDUFB9	ORPHA:2609
HP:0034434	Abnormal communication	23316	CUX2	OMIM:618141
HP:0034434	Abnormal communication	8506	CNTNAP1	OMIM:618186
HP:0034434	Abnormal communication	55773	TBC1D23	OMIM:617695
HP:0034434	Abnormal communication	10564	ARFGEF2	OMIM:608097
HP:0034434	Abnormal communication	85476	GFM1	OMIM:609060
HP:0034434	Abnormal communication	53616	ADAM22	OMIM:617933
HP:0034434	Abnormal communication	85358	SHANK3	OMIM:606232
HP:0034434	Abnormal communication	170302	ARX	OMIM:308350
HP:0034434	Abnormal communication	80222	TARS2	OMIM:615918
HP:0034434	Abnormal communication	22854	NTNG1	ORPHA:3095
HP:0034434	Abnormal communication	60558	GUF1	OMIM:617065
HP:0034434	Abnormal communication	374354	NHLRC2	OMIM:618278
HP:0034434	Abnormal communication	79868	ALG13	OMIM:300884
HP:0034434	Abnormal communication	79868	ALG13	ORPHA:324422
HP:0034434	Abnormal communication	5917	RARS1	ORPHA:438114
HP:0034434	Abnormal communication	1352	COX10	OMIM:619046
HP:0034434	Abnormal communication	6487	ST3GAL3	OMIM:615006
HP:0034434	Abnormal communication	2555	GABRA2	OMIM:618557
HP:0034434	Abnormal communication	57582	KCNT1	OMIM:614959
HP:0034434	Abnormal communication	54820	NDE1	OMIM:605013
HP:0034434	Abnormal communication	56652	TWNK	OMIM:271245
HP:0034434	Abnormal communication	4718	NDUFC2	OMIM:619170
HP:0034434	Abnormal communication	2590	GALNT2	OMIM:618885
HP:0034434	Abnormal communication	2332	FMR1	ORPHA:449291
HP:0034434	Abnormal communication	2332	FMR1	OMIM:300624
HP:0034434	Abnormal communication	85365	ALG2	OMIM:607906
HP:0034434	Abnormal communication	111	ADCY5	OMIM:619651
HP:0034434	Abnormal communication	125988	MICOS13	OMIM:618329
HP:0034434	Abnormal communication	51079	NDUFA13	OMIM:618249
HP:0034434	Abnormal communication	81615	TMEM163	OMIM:620243
HP:0034434	Abnormal communication	5422	POLA1	OMIM:301030
HP:0034434	Abnormal communication	6576	SLC25A1	OMIM:615182
HP:0034434	Abnormal communication	4761	NEUROD2	OMIM:618374
HP:0034434	Abnormal communication	10243	GPHN	OMIM:615501
HP:0034434	Abnormal communication	2744	GLS	OMIM:618339
HP:0034434	Abnormal communication	2137	EXTL3	ORPHA:508533
HP:0034434	Abnormal communication	7528	YY1	ORPHA:506358
HP:0034434	Abnormal communication	29925	GMPPB	OMIM:615350
HP:0034434	Abnormal communication	104	ADARB1	OMIM:618862
HP:0034434	Abnormal communication	340533	NEXMIF	OMIM:300912
HP:0034434	Abnormal communication	340533	NEXMIF	ORPHA:85277
HP:0034434	Abnormal communication	55823	VPS11	OMIM:616683
HP:0034434	Abnormal communication	55823	VPS11	ORPHA:466934
HP:0034434	Abnormal communication	2775	GNAO1	OMIM:615473
HP:0034434	Abnormal communication	2775	GNAO1	OMIM:617493
HP:0034434	Abnormal communication	51569	UFM1	OMIM:617899
HP:0034434	Abnormal communication	23334	SZT2	OMIM:615476
HP:0034434	Abnormal communication	9254	CACNA2D2	OMIM:618501
HP:0034434	Abnormal communication	7360	UGP2	OMIM:618744
HP:0034434	Abnormal communication	81570	CLPB	OMIM:619835
HP:0034434	Abnormal communication	79848	CSPP1	ORPHA:397715
HP:0034434	Abnormal communication	9786	KIAA0586	ORPHA:397715
HP:0034434	Abnormal communication	6873	TAF2	ORPHA:397951
HP:0034434	Abnormal communication	65993	MRPS34	OMIM:617664
HP:0034434	Abnormal communication	80816	ASXL3	OMIM:615485
HP:0034434	Abnormal communication	80816	ASXL3	ORPHA:352577
HP:0034434	Abnormal communication	283489	CHAMP1	OMIM:616579
HP:0034434	Abnormal communication	387787	LIPT2	OMIM:617668
HP:0034434	Abnormal communication	477	ATP1A2	OMIM:619605
HP:0034434	Abnormal communication	51111	KMT5B	OMIM:617788
HP:0034434	Abnormal communication	166378	AFG2A	OMIM:616577
HP:0034434	Abnormal communication	65082	VPS33A	OMIM:617303
HP:0034434	Abnormal communication	65082	VPS33A	ORPHA:505248
HP:0034434	Abnormal communication	10730	YME1L1	OMIM:617302
HP:0034434	Abnormal communication	55690	PACS1	OMIM:615009
HP:0034434	Abnormal communication	55690	PACS1	ORPHA:329224
HP:0034434	Abnormal communication	10565	ARFGEF1	OMIM:619964
HP:0034434	Abnormal communication	5610	EIF2AK2	OMIM:618877
HP:0034434	Abnormal communication	28960	DCPS	OMIM:616459
HP:0034434	Abnormal communication	55768	NGLY1	ORPHA:404454
HP:0034434	Abnormal communication	7086	TKT	ORPHA:488618
HP:0034434	Abnormal communication	7086	TKT	OMIM:617044
HP:0034434	Abnormal communication	57231	SNX14	ORPHA:397709
HP:0034434	Abnormal communication	57231	SNX14	OMIM:616354
HP:0034434	Abnormal communication	55650	PIGV	OMIM:239300
HP:0034434	Abnormal communication	3190	HNRNPK	OMIM:616580
HP:0034434	Abnormal communication	5832	ALDH18A1	OMIM:616586
HP:0034434	Abnormal communication	5832	ALDH18A1	OMIM:219150
HP:0034434	Abnormal communication	55870	ASH1L	OMIM:617796
HP:0034434	Abnormal communication	7343	UBTF	OMIM:617672
HP:0034434	Abnormal communication	7343	UBTF	ORPHA:500180
HP:0034434	Abnormal communication	150094	SIK1	OMIM:616341
HP:0034434	Abnormal communication	816	CAMK2B	OMIM:617799
HP:0034434	Abnormal communication	815	CAMK2A	OMIM:617798
HP:0034434	Abnormal communication	815	CAMK2A	OMIM:618095
HP:0034434	Abnormal communication	1759	DNM1	OMIM:616346
HP:0034434	Abnormal communication	3064	HTT	OMIM:617435
HP:0034434	Abnormal communication	81857	MED25	ORPHA:464738
HP:0034434	Abnormal communication	2770	GNAI1	OMIM:619854
HP:0034434	Abnormal communication	170825	GSX2	OMIM:618646
HP:0034434	Abnormal communication	7920	ABHD16A	OMIM:619735
HP:0034434	Abnormal communication	8560	DEGS1	OMIM:618404
HP:0034434	Abnormal communication	83480	PUS3	ORPHA:488627
HP:0034434	Abnormal communication	5354	PLP1	ORPHA:280210
HP:0034434	Abnormal communication	23096	IQSEC2	ORPHA:397933
HP:0034434	Abnormal communication	652	BMP4	OMIM:607932
HP:0034434	Abnormal communication	283987	HID1	OMIM:619983
HP:0034434	Abnormal communication	22884	WDR37	OMIM:618652
HP:0034434	Abnormal communication	1193	CLIC2	ORPHA:324410
HP:0034434	Abnormal communication	1193	CLIC2	OMIM:300886
HP:0034434	Abnormal communication	5442	POLRMT	OMIM:619743
HP:0034434	Abnormal communication	5528	PPP2R5D	OMIM:616355
HP:0034434	Abnormal communication	5528	PPP2R5D	ORPHA:457279
HP:0034434	Abnormal communication	23327	NEDD4L	OMIM:617201
HP:0034434	Abnormal communication	54872	PIGG	ORPHA:488635
HP:0034434	Abnormal communication	54872	PIGG	OMIM:616917
HP:0034434	Abnormal communication	28514	DLL1	ORPHA:93926
HP:0034434	Abnormal communication	28514	DLL1	ORPHA:93924
HP:0034434	Abnormal communication	28514	DLL1	ORPHA:93925
HP:0034434	Abnormal communication	28514	DLL1	ORPHA:220386
HP:0034434	Abnormal communication	2253	FGF8	ORPHA:93926
HP:0034434	Abnormal communication	2253	FGF8	ORPHA:93924
HP:0034434	Abnormal communication	2253	FGF8	ORPHA:93925
HP:0034434	Abnormal communication	2253	FGF8	ORPHA:220386
HP:0034434	Abnormal communication	6496	SIX3	ORPHA:93926
HP:0034434	Abnormal communication	6496	SIX3	ORPHA:93924
HP:0034434	Abnormal communication	6496	SIX3	ORPHA:93925
HP:0034434	Abnormal communication	6496	SIX3	ORPHA:220386
HP:0034434	Abnormal communication	7050	TGIF1	ORPHA:93926
HP:0034434	Abnormal communication	7050	TGIF1	ORPHA:93924
HP:0034434	Abnormal communication	7050	TGIF1	ORPHA:93925
HP:0034434	Abnormal communication	7050	TGIF1	ORPHA:220386
HP:0034434	Abnormal communication	4838	NODAL	ORPHA:93926
HP:0034434	Abnormal communication	4838	NODAL	ORPHA:93924
HP:0034434	Abnormal communication	4838	NODAL	ORPHA:93925
HP:0034434	Abnormal communication	4838	NODAL	ORPHA:220386
HP:0034434	Abnormal communication	6469	SHH	ORPHA:93926
HP:0034434	Abnormal communication	6469	SHH	ORPHA:93924
HP:0034434	Abnormal communication	6469	SHH	ORPHA:93925
HP:0034434	Abnormal communication	6469	SHH	ORPHA:220386
HP:0034434	Abnormal communication	7546	ZIC2	ORPHA:93926
HP:0034434	Abnormal communication	7546	ZIC2	ORPHA:93924
HP:0034434	Abnormal communication	7546	ZIC2	ORPHA:93925
HP:0034434	Abnormal communication	7546	ZIC2	ORPHA:220386
HP:0034434	Abnormal communication	6491	STIL	ORPHA:93926
HP:0034434	Abnormal communication	6491	STIL	ORPHA:93924
HP:0034434	Abnormal communication	6491	STIL	ORPHA:93925
HP:0034434	Abnormal communication	6491	STIL	OMIM:612703
HP:0034434	Abnormal communication	6491	STIL	ORPHA:220386
HP:0034434	Abnormal communication	2619	GAS1	ORPHA:93926
HP:0034434	Abnormal communication	2619	GAS1	ORPHA:93924
HP:0034434	Abnormal communication	2619	GAS1	ORPHA:93925
HP:0034434	Abnormal communication	2619	GAS1	ORPHA:220386
HP:0034434	Abnormal communication	84976	DISP1	ORPHA:93926
HP:0034434	Abnormal communication	84976	DISP1	ORPHA:93924
HP:0034434	Abnormal communication	84976	DISP1	ORPHA:93925
HP:0034434	Abnormal communication	84976	DISP1	ORPHA:220386
HP:0034434	Abnormal communication	2736	GLI2	ORPHA:93926
HP:0034434	Abnormal communication	2736	GLI2	ORPHA:93924
HP:0034434	Abnormal communication	2736	GLI2	ORPHA:93925
HP:0034434	Abnormal communication	2736	GLI2	ORPHA:220386
HP:0034434	Abnormal communication	8928	FOXH1	ORPHA:93926
HP:0034434	Abnormal communication	8928	FOXH1	ORPHA:93924
HP:0034434	Abnormal communication	8928	FOXH1	ORPHA:93925
HP:0034434	Abnormal communication	8928	FOXH1	ORPHA:220386
HP:0034434	Abnormal communication	5727	PTCH1	ORPHA:93926
HP:0034434	Abnormal communication	5727	PTCH1	ORPHA:93924
HP:0034434	Abnormal communication	5727	PTCH1	ORPHA:93925
HP:0034434	Abnormal communication	5727	PTCH1	ORPHA:220386
HP:0034434	Abnormal communication	50937	CDON	ORPHA:93926
HP:0034434	Abnormal communication	50937	CDON	ORPHA:93924
HP:0034434	Abnormal communication	50937	CDON	ORPHA:93925
HP:0034434	Abnormal communication	50937	CDON	ORPHA:220386
HP:0034434	Abnormal communication	23007	PLCH1	ORPHA:93925
HP:0034434	Abnormal communication	10735	STAG2	ORPHA:93925
HP:0034434	Abnormal communication	10735	STAG2	ORPHA:220386
HP:0034434	Abnormal communication	6905	TBCE	OMIM:617207
HP:0034434	Abnormal communication	5518	PPP2R1A	OMIM:616362
HP:0034434	Abnormal communication	5518	PPP2R1A	ORPHA:457284
HP:0034434	Abnormal communication	1182	CLCN3	OMIM:619512
HP:0034434	Abnormal communication	1182	CLCN3	OMIM:619517
HP:0034434	Abnormal communication	3737	KCNA2	OMIM:616366
HP:0034434	Abnormal communication	84879	MFSD2A	OMIM:616486
HP:0034434	Abnormal communication	27089	UQCRQ	OMIM:615159
HP:0034434	Abnormal communication	8363	H4C11	OMIM:619759
HP:0034434	Abnormal communication	92609	TIMM50	OMIM:617698
HP:0034434	Abnormal communication	92609	TIMM50	ORPHA:505216
HP:0034434	Abnormal communication	4191	MDH2	OMIM:617339
HP:0034434	Abnormal communication	5590	PRKCZ	ORPHA:1606
HP:0034434	Abnormal communication	2563	GABRD	ORPHA:1606
HP:0034434	Abnormal communication	23013	SPEN	ORPHA:1606
HP:0034434	Abnormal communication	23013	SPEN	OMIM:619312
HP:0034434	Abnormal communication	8510	MMP23B	ORPHA:1606
HP:0034434	Abnormal communication	7798	LUZP1	ORPHA:1606
HP:0034434	Abnormal communication	6497	SKI	ORPHA:1606
HP:0034434	Abnormal communication	10630	PDPN	ORPHA:1606
HP:0034434	Abnormal communication	3339	HSPG2	ORPHA:1606
HP:0034434	Abnormal communication	10277	UBE4B	ORPHA:1606
HP:0034434	Abnormal communication	8514	KCNAB2	ORPHA:1606
HP:0034434	Abnormal communication	473	RERE	ORPHA:1606
HP:0034434	Abnormal communication	63976	PRDM16	ORPHA:1606
HP:0034434	Abnormal communication	54897	CASZ1	ORPHA:1606
HP:0034434	Abnormal communication	6134	RPL10	ORPHA:459070
HP:0034434	Abnormal communication	7337	UBE3A	OMIM:105830
HP:0034434	Abnormal communication	7337	UBE3A	ORPHA:98794
HP:0034434	Abnormal communication	7337	UBE3A	ORPHA:411515
HP:0034434	Abnormal communication	1859	DYRK1A	ORPHA:464311
HP:0034434	Abnormal communication	1859	DYRK1A	ORPHA:268261
HP:0034434	Abnormal communication	3766	KCNJ10	ORPHA:199343
HP:0034434	Abnormal communication	51633	OTUD6B	ORPHA:505237
HP:0034434	Abnormal communication	54828	BCAS3	OMIM:619641
HP:0034434	Abnormal communication	3800	KIF5C	OMIM:615282
HP:0034434	Abnormal communication	122961	ISCA2	OMIM:616370
HP:0034434	Abnormal communication	253959	RALGAPA1	OMIM:618797
HP:0034434	Abnormal communication	10991	SLC38A3	OMIM:619881
HP:0034434	Abnormal communication	2904	GRIN2B	OMIM:616139
HP:0034434	Abnormal communication	6506	SLC1A2	OMIM:617105
HP:0034434	Abnormal communication	25973	PARS2	OMIM:618437
HP:0034434	Abnormal communication	9562	MINPP1	OMIM:619527
HP:0034434	Abnormal communication	2258	FGF13	OMIM:301095
HP:0034434	Abnormal communication	57192	MCOLN1	ORPHA:578
HP:0034434	Abnormal communication	57192	MCOLN1	OMIM:252650
HP:0034434	Abnormal communication	10667	FARS2	ORPHA:466722
HP:0034434	Abnormal communication	23314	SATB2	ORPHA:576283
HP:0034434	Abnormal communication	23314	SATB2	ORPHA:251028
HP:0034434	Abnormal communication	23556	PIGN	OMIM:614080
HP:0034434	Abnormal communication	7030	TFE3	OMIM:301066
HP:0034434	Abnormal communication	9922	IQSEC1	OMIM:618687
HP:0034434	Abnormal communication	284098	PIGW	OMIM:616025
HP:0034434	Abnormal communication	388662	SLC6A17	OMIM:616269
HP:0034434	Abnormal communication	64919	BCL11B	OMIM:617237
HP:0034434	Abnormal communication	7994	KAT6A	OMIM:616268
HP:0034434	Abnormal communication	51227	PIGP	OMIM:617599
HP:0034434	Abnormal communication	23499	MACF1	OMIM:618325
HP:0034434	Abnormal communication	51322	WAC	ORPHA:466950
HP:0034434	Abnormal communication	10533	ATG7	OMIM:619422
HP:0034434	Abnormal communication	51645	PPIL1	OMIM:619301
HP:0034434	Abnormal communication	8295	TRRAP	OMIM:618454
HP:0034434	Abnormal communication	1917	EEF1A2	OMIM:616393
HP:0034434	Abnormal communication	1917	EEF1A2	OMIM:616409
HP:0034434	Abnormal communication	54903	MKS1	OMIM:249000
HP:0034434	Abnormal communication	58497	PRUNE1	OMIM:617481
HP:0034434	Abnormal communication	58497	PRUNE1	ORPHA:544469
HP:0034434	Abnormal communication	26173	INTS1	OMIM:618571
HP:0034434	Abnormal communication	55656	INTS8	OMIM:618572
HP:0034434	Abnormal communication	3658	IREB2	OMIM:618451
HP:0034434	Abnormal communication	51693	TRAPPC2L	OMIM:618331
HP:0034434	Abnormal communication	5813	PURA	OMIM:616158
HP:0034434	Abnormal communication	6857	SYT1	OMIM:618218
HP:0034434	Abnormal communication	6857	SYT1	ORPHA:522077
HP:0034434	Abnormal communication	81603	TRIM8	OMIM:619428
HP:0034434	Abnormal communication	5277	PIGA	OMIM:301072
HP:0034434	Abnormal communication	5277	PIGA	OMIM:300868
HP:0034434	Abnormal communication	8905	AP1S2	OMIM:304340
HP:0034434	Abnormal communication	11160	ERLIN2	ORPHA:280384
HP:0034434	Abnormal communication	11160	ERLIN2	ORPHA:209951
HP:0034434	Abnormal communication	11160	ERLIN2	OMIM:611225
HP:0034434	Abnormal communication	84706	GPT2	OMIM:616281
HP:0034434	Abnormal communication	10059	DNM1L	ORPHA:330050
HP:0034434	Abnormal communication	8925	HERC1	OMIM:617011
HP:0034434	Abnormal communication	8925	HERC1	ORPHA:457359
HP:0034434	Abnormal communication	5898	RALA	OMIM:619311
HP:0034434	Abnormal communication	79876	UBA5	OMIM:617132
HP:0034434	Abnormal communication	84894	LINGO1	OMIM:618103
HP:0034434	Abnormal communication	9759	HDAC4	OMIM:619797
HP:0034434	Abnormal communication	10785	WDR4	OMIM:618346
HP:0034434	Abnormal communication	30000	TNPO2	OMIM:619556
HP:0034434	Abnormal communication	56896	DPYSL5	OMIM:619435
HP:0034434	Abnormal communication	54892	NCAPG2	OMIM:618460
HP:0034434	Abnormal communication	23516	SLC39A14	OMIM:617013
HP:0034434	Abnormal communication	160418	TMTC3	OMIM:617255
HP:0034434	Abnormal communication	51728	POLR3K	OMIM:619310
HP:0034434	Abnormal communication	8573	CASK	OMIM:300749
HP:0034434	Abnormal communication	8573	CASK	ORPHA:163937
HP:0034434	Abnormal communication	92335	STRADA	ORPHA:500533
HP:0034434	Abnormal communication	92335	STRADA	OMIM:611087
HP:0034434	Abnormal communication	51412	ACTL6B	OMIM:618468
HP:0034434	Abnormal communication	51412	ACTL6B	OMIM:618470
HP:0034434	Abnormal communication	8818	DPM2	ORPHA:329178
HP:0034434	Abnormal communication	6323	SCN1A	OMIM:619317
HP:0034434	Abnormal communication	9526	MPDU1	OMIM:609180
HP:0034434	Abnormal communication	1605	DAG1	ORPHA:370997
HP:0034434	Abnormal communication	1605	DAG1	OMIM:616538
HP:0034434	Abnormal communication	10733	PLK4	OMIM:616171
HP:0034434	Abnormal communication	1387	CREBBP	ORPHA:353281
HP:0034434	Abnormal communication	1387	CREBBP	ORPHA:353277
HP:0034434	Abnormal communication	11277	TREX1	OMIM:225750
HP:0034434	Abnormal communication	6647	SOD1	OMIM:618598
HP:0034434	Abnormal communication	3745	KCNB1	OMIM:616056
HP:0034434	Abnormal communication	4081	MAB21L1	OMIM:618479
HP:0034434	Abnormal communication	2033	EP300	ORPHA:353284
HP:0034434	Abnormal communication	443	ASPA	ORPHA:314911
HP:0034434	Abnormal communication	154881	KCTD7	OMIM:611726
HP:0034434	Abnormal communication	29954	POMT2	OMIM:236670
HP:0034434	Abnormal communication	9215	LARGE1	OMIM:236670
HP:0034434	Abnormal communication	79147	FKRP	OMIM:236670
HP:0034434	Abnormal communication	10585	POMT1	OMIM:236670
HP:0034434	Abnormal communication	10585	POMT1	OMIM:613155
HP:0034434	Abnormal communication	2218	FKTN	OMIM:236670
HP:0034434	Abnormal communication	8869	ST3GAL5	OMIM:609056
HP:0034434	Abnormal communication	6904	TBCD	ORPHA:496641
HP:0034434	Abnormal communication	6904	TBCD	OMIM:617193
HP:0034434	Abnormal communication	4948	OCA2	ORPHA:98794
HP:0034434	Abnormal communication	3192	HNRNPU	OMIM:617391
HP:0034434	Abnormal communication	55250	ELP2	OMIM:617270
HP:0034434	Abnormal communication	84340	GFM2	ORPHA:565624
HP:0034434	Abnormal communication	56915	EXOSC5	OMIM:619576
HP:0034434	Abnormal communication	23221	RHOBTB2	OMIM:618004
HP:0034434	Abnormal communication	112939	NACC1	OMIM:617393
HP:0034434	Abnormal communication	6601	SMARCC2	OMIM:618362
HP:0034434	Abnormal communication	6601	SMARCC2	ORPHA:1465
HP:0034434	Abnormal communication	55572	FOXRED1	OMIM:618241
HP:0034434	Abnormal communication	8120	AP3B2	OMIM:617276
HP:0034434	Abnormal communication	7965	AIMP2	OMIM:618006
HP:0034434	Abnormal communication	3376	IARS1	ORPHA:541423
HP:0034434	Abnormal communication	3376	IARS1	OMIM:617093
HP:0034434	Abnormal communication	26999	CYFIP2	OMIM:618008
HP:0034434	Abnormal communication	29920	PYCR2	ORPHA:481152
HP:0034434	Abnormal communication	29920	PYCR2	OMIM:616420
HP:0034434	Abnormal communication	51608	GET4	OMIM:620200
HP:0034434	Abnormal communication	8604	SLC25A12	OMIM:612949
HP:0034434	Abnormal communication	6821	SUOX	OMIM:272300
HP:0034434	Abnormal communication	80311	KLHL15	OMIM:300982
HP:0034434	Abnormal communication	7703	PCGF2	OMIM:618371
HP:0034434	Abnormal communication	23258	DENND5A	OMIM:617281
HP:0034434	Abnormal communication	774	CACNA1B	OMIM:618497
HP:0034434	Abnormal communication	2906	GRIN2D	OMIM:617162
HP:0034434	Abnormal communication	9758	FRMPD4	OMIM:300983
HP:0034434	Abnormal communication	389856	USP27X	OMIM:300984
HP:0034434	Abnormal communication	1822	ATN1	OMIM:618494
HP:0034434	Abnormal communication	26040	SETBP1	OMIM:616078
HP:0034434	Abnormal communication	3188	HNRNPH2	OMIM:300986
HP:0034434	Abnormal communication	523	ATP6V1A	OMIM:618012
HP:0034434	Abnormal communication	2257	FGF12	OMIM:617166
HP:0034434	Abnormal communication	6304	SATB1	OMIM:619229
HP:0034434	Abnormal communication	220296	HEPACAM	OMIM:613926
HP:0034434	Abnormal communication	79718	TBL1XR1	ORPHA:487825
HP:0034434	Abnormal communication	3028	HSD17B10	ORPHA:391428
HP:0034434	Abnormal communication	6611	SMS	ORPHA:3063
HP:0034434	Abnormal communication	10522	DEAF1	OMIM:617171
HP:0034434	Abnormal communication	10522	DEAF1	ORPHA:468620
HP:0034434	Abnormal communication	5281	PIGF	OMIM:619356
HP:0034434	Abnormal communication	2290	FOXG1	ORPHA:261144
HP:0034434	Abnormal communication	2290	FOXG1	OMIM:613454
HP:0034434	Abnormal communication	57003	CCDC47	OMIM:618268
HP:0034434	Abnormal communication	94005	PIGS	OMIM:618143
HP:0034434	Abnormal communication	80036	TRPM3	OMIM:620224
HP:0034434	Abnormal communication	11198	SUPT16H	OMIM:619480
HP:0034434	Abnormal communication	10682	EBP	OMIM:300960
HP:0034434	Abnormal communication	1457	CSNK2A1	OMIM:617062
HP:0034434	Abnormal communication	10681	GNB5	OMIM:617182
HP:0034434	Abnormal communication	10681	GNB5	ORPHA:542306
HP:0034434	Abnormal communication	100147744	RNU7-1	OMIM:619487
HP:0034434	Abnormal communication	57477	SHROOM4	ORPHA:85288
HP:0034434	Abnormal communication	22983	MAST1	OMIM:618273
HP:0034434	Abnormal communication	2566	GABRG2	OMIM:618396
HP:0034434	Abnormal communication	91875	TTC5	OMIM:619244
HP:0034434	Abnormal communication	23287	AGTPBP1	OMIM:618276
HP:0034434	Abnormal communication	79143	MBOAT7	OMIM:617188
HP:0034434	Abnormal communication	8450	CUL4B	ORPHA:85293
HP:0034434	Abnormal communication	8450	CUL4B	OMIM:300354
HP:0034434	Abnormal communication	57038	RARS2	OMIM:611523
HP:0034434	Abnormal communication	498	ATP5F1A	OMIM:620358
HP:0034434	Abnormal communication	118924	FRA10AC1	OMIM:620113
HP:0034434	Abnormal communication	8911	CACNA1I	OMIM:620114
HP:0034434	Abnormal communication	2799	GNS	OMIM:252940
HP:0034434	Abnormal communication	2593	GAMT	OMIM:612736
HP:0034434	Abnormal communication	10479	SLC9A6	ORPHA:85278
HP:0034434	Abnormal communication	10479	SLC9A6	OMIM:300243
HP:0034434	Abnormal communication	777	CACNA1E	OMIM:618285
HP:0034434	Abnormal communication	1315	COPB1	OMIM:619255
HP:0034434	Abnormal communication	55835	CENPJ	OMIM:608393
HP:0034434	Abnormal communication	55005	RMND1	OMIM:614922
HP:0034434	Abnormal communication	84081	NSRP1	OMIM:620001
HP:0034434	Abnormal communication	124454	EARS2	OMIM:614924
HP:0034434	Abnormal communication	10079	ATP9A	OMIM:620242
HP:0034434	Abnormal communication	1795	DOCK3	OMIM:618292
HP:0034434	Abnormal communication	60684	TRAPPC11	ORPHA:369840
HP:0034434	Abnormal communication	3735	KARS1	OMIM:619147
HP:0034434	Abnormal communication	27072	VPS41	OMIM:619389
HP:0034434	Abnormal communication	8665	EIF3F	OMIM:618295
HP:0034434	Abnormal communication	1496	CTNNA2	OMIM:618174
HP:0034434	Abnormal communication	221927	BRAT1	OMIM:618056
HP:0034434	Abnormal communication	87178	PNPT1	OMIM:614932
HP:0034434	Abnormal communication	87178	PNPT1	ORPHA:319514
HP:0034434	Abnormal communication	284111	SLC13A5	OMIM:615905
HP:0034434	Abnormal communication	199857	ALG14	OMIM:619031
HP:0034434	Abnormal communication	27183	VPS4A	OMIM:619273
HP:0034434	Abnormal communication	1183	CLCN4	OMIM:300114
HP:0034434	Abnormal communication	55503	TRPV6	OMIM:618188
HP:0034434	Abnormal communication	7109	TRAPPC10	OMIM:620027
HP:0034434	Abnormal communication	347734	SLC35B2	OMIM:620269
HP:0034434	Abnormal communication	781	CACNA2D1	OMIM:620149
HP:0034434	Abnormal communication	55325	UFSP2	OMIM:620028
HP:0034434	Abnormal communication	1119	CHKA	OMIM:620023
HP:0034434	Abnormal communication	8496	PPFIBP1	OMIM:620024
HP:0034434	Abnormal communication	9839	ZEB2	OMIM:235730
HP:0034434	Abnormal communication	9839	ZEB2	ORPHA:261552
HP:0034434	Abnormal communication	9839	ZEB2	ORPHA:261537
HP:0034434	Abnormal communication	23126	POGZ	ORPHA:468678
HP:0034434	Abnormal communication	4784	NFIX	ORPHA:447980
HP:0034434	Abnormal communication	4983	OPHN1	OMIM:300486
HP:0034434	Abnormal communication	6531	SLC6A3	ORPHA:238455
HP:0034434	Abnormal communication	80232	WDR26	ORPHA:513456
HP:0034434	Abnormal communication	80232	WDR26	OMIM:617616
HP:0034434	Abnormal communication	89910	UBE3B	OMIM:244450
HP:0034434	Abnormal communication	51506	UFC1	OMIM:618076
HP:0034434	Abnormal communication	80055	PGAP1	OMIM:615802
HP:0034434	Abnormal communication	2911	GRM1	OMIM:614831
HP:0034434	Abnormal communication	2911	GRM1	ORPHA:324262
HP:0034434	Abnormal communication	10847	SRCAP	ORPHA:2044
HP:0034434	Abnormal communication	5689	PSMB1	OMIM:620038
HP:0034434	Abnormal communication	10978	CLP1	OMIM:615803
HP:0034434	Abnormal communication	271	AMPD2	OMIM:615809
HP:0034434	Abnormal communication	25839	COG4	ORPHA:263501
HP:0034434	Abnormal communication	25839	COG4	OMIM:613489
HP:0034434	Abnormal communication	56992	KIF15	ORPHA:261323
HP:0034434	Abnormal communication	4001	LMNB1	OMIM:619179
HP:0034434	Abnormal communication	64324	NSD1	OMIM:117550
HP:0034434	Abnormal communication	64207	IRF2BPL	OMIM:618088
HP:0034434	Abnormal communication	5119	CHMP1A	OMIM:614961
HP:0034434	Abnormal communication	55157	DARS2	ORPHA:137898
HP:0034434	Abnormal communication	114034	TOE1	OMIM:614969
HP:0034434	Abnormal communication	894	CCND2	OMIM:615938
HP:0034434	Abnormal communication	6597	SMARCA4	OMIM:614609
HP:0034434	Abnormal communication	6597	SMARCA4	ORPHA:1465
HP:0034434	Abnormal communication	23116	TOGARAM1	OMIM:619185
HP:0034434	Abnormal communication	80856	LNPK	OMIM:618090
HP:0034434	Abnormal communication	79583	TMEM231	OMIM:614970
HP:0034434	Abnormal communication	10352	WARS2	ORPHA:572798
HP:0034434	Abnormal communication	10352	WARS2	OMIM:617710
HP:0034434	Abnormal communication	26005	C2CD3	OMIM:615948
HP:0034434	Abnormal communication	84947	SERAC1	OMIM:614739
HP:0034434	Abnormal communication	1798	DPAGT1	ORPHA:86309
HP:0034434	Abnormal communication	7025	NR2F1	ORPHA:401777
HP:0034434	Abnormal communication	9255	AIMP1	OMIM:260600
HP:0034434	Abnormal communication	285175	UNC80	OMIM:616801
HP:0034434	Abnormal communication	285175	UNC80	ORPHA:371364
HP:0034434	Abnormal communication	54499	TMCO1	OMIM:213980
HP:0034434	Abnormal communication	93210	PGAP3	OMIM:615716
HP:0034434	Abnormal communication	83475	DOHH	OMIM:620066
HP:0034434	Abnormal communication	6558	SLC12A2	OMIM:619083
HP:0034434	Abnormal communication	6558	SLC12A2	OMIM:619080
HP:0034434	Abnormal communication	51611	DPH5	OMIM:620070
HP:0034434	Abnormal communication	5700	PSMC1	OMIM:620071
HP:0034434	Abnormal communication	440138	ALG11	OMIM:613661
HP:0034434	Abnormal communication	9568	GABBR2	OMIM:617903
HP:0034434	Abnormal communication	9568	GABBR2	OMIM:617904
HP:0034434	Abnormal communication	64135	IFIH1	OMIM:615846
HP:0034434	Abnormal communication	10472	ZBTB18	OMIM:612337
HP:0034434	Abnormal communication	6605	SMARCE1	OMIM:616938
HP:0034434	Abnormal communication	6605	SMARCE1	ORPHA:1465
HP:0034434	Abnormal communication	55691	FRMD4A	OMIM:616819
HP:0034434	Abnormal communication	55691	FRMD4A	ORPHA:466688
HP:0034434	Abnormal communication	10430	TMEM147	OMIM:620075
HP:0034434	Abnormal communication	3187	HNRNPH1	OMIM:620083
HP:0034434	Abnormal communication	158	ADSL	ORPHA:46
HP:0034434	Abnormal communication	11152	WDR45	OMIM:300894
HP:0034434	Abnormal communication	7355	SLC35A2	OMIM:300896
HP:0034434	Abnormal communication	9968	MED12	OMIM:300895
HP:0034434	Abnormal communication	50628	GEMIN4	OMIM:617913
HP:0034434	Abnormal communication	81887	LAS1L	OMIM:309585
HP:0034434	Abnormal communication	85440	DOCK7	OMIM:615859
HP:0034434	Abnormal communication	4208	MEF2C	OMIM:613443
HP:0034434	Abnormal communication	22907	DHX30	OMIM:617804
HP:0034434	Abnormal communication	7407	VARS1	OMIM:617802
HP:0034434	Abnormal communication	9894	TELO2	OMIM:616954
HP:0034434	Abnormal communication	9894	TELO2	ORPHA:488642
HP:0034434	Abnormal communication	9230	RAB11B	OMIM:617807
HP:0034434	Abnormal communication	10075	HUWE1	OMIM:309590
HP:0034434	Abnormal communication	55906	ZC4H2	OMIM:301041
HP:0034434	Abnormal communication	8243	SMC1A	OMIM:301044
HP:0034434	Abnormal communication	8243	SMC1A	ORPHA:220386
HP:0034434	Abnormal communication	348980	HCN1	OMIM:615871
HP:0034434	Abnormal communication	51807	TUBA8	ORPHA:250972
HP:0034434	Abnormal communication	6328	SCN3A	OMIM:617938
HP:0034434	Abnormal communication	22845	DOLK	ORPHA:91131
HP:0034434	Abnormal communication	79587	CARS2	ORPHA:477774
HP:0034434	Abnormal communication	84162	BLTP1	OMIM:617822
HP:0034434	Abnormal communication	2902	GRIN1	OMIM:617820
HP:0034434	Abnormal communication	2902	GRIN1	OMIM:614254
HP:0034434	Abnormal communication	7280	TUBB2A	OMIM:615763
HP:0034434	Abnormal communication	4953	ODC1	ORPHA:544488
HP:0034434	Abnormal communication	998	CDC42	OMIM:616737
HP:0034434	Abnormal communication	998	CDC42	ORPHA:487796
HP:0034434	Abnormal communication	55152	DALRD3	OMIM:618910
HP:0034434	Abnormal communication	3097	HIVEP2	OMIM:616977
HP:0034434	Abnormal communication	51010	EXOSC3	OMIM:614678
HP:0034434	Abnormal communication	6513	SLC2A1	OMIM:608885
HP:0034434	Abnormal communication	2561	GABRB2	OMIM:617829
HP:0034434	Abnormal communication	2891	GRIA2	OMIM:618917
HP:0034434	Abnormal communication	23732	FRRS1L	OMIM:616981
HP:0034434	Abnormal communication	9512	PMPCB	OMIM:617954
HP:0034434	Abnormal communication	5530	PPP3CA	OMIM:617711
HP:0034434	Abnormal communication	7874	USP7	OMIM:616863
HP:0034434	Abnormal communication	7874	USP7	ORPHA:500055
HP:0034434	Abnormal communication	6598	SMARCB1	ORPHA:1465
HP:0034434	Abnormal communication	6659	SOX4	ORPHA:1465
HP:0034434	Abnormal communication	8289	ARID1A	ORPHA:1465
HP:0034434	Abnormal communication	5977	DPF2	ORPHA:1465
HP:0034434	Abnormal communication	6602	SMARCD1	ORPHA:1465
HP:0034434	Abnormal communication	57492	ARID1B	ORPHA:1465
HP:0034434	Abnormal communication	196528	ARID2	ORPHA:1465
HP:0034434	Abnormal communication	6664	SOX11	ORPHA:1465
HP:0034434	Abnormal communication	4915	NTRK2	OMIM:617830
HP:0034434	Abnormal communication	27315	PGAP2	OMIM:614207
HP:0034434	Abnormal communication	259232	NALCN	OMIM:615419
HP:0034434	Abnormal communication	259232	NALCN	ORPHA:371364
HP:0034434	Abnormal communication	51185	CRBN	OMIM:607417
HP:0034434	Abnormal communication	10943	MSL3	OMIM:301032
HP:0034434	Abnormal communication	84342	COG8	OMIM:611182
HP:0034434	Abnormal communication	56479	KCNQ5	OMIM:617601
HP:0034434	Abnormal communication	128637	TBC1D20	OMIM:615663
HP:0034434	Abnormal communication	55969	RAB5IF	OMIM:616994
HP:0034434	Abnormal communication	128989	TANGO2	OMIM:616878
HP:0034434	Abnormal communication	54551	MAGEL2	OMIM:615547
HP:0034434	Abnormal communication	51501	HIKESHI	OMIM:616881
HP:0034434	Abnormal communication	6812	STXBP1	OMIM:612164
HP:0034434	Abnormal communication	55180	LINS1	OMIM:614340
HP:0034434	Abnormal communication	22866	CNKSR2	OMIM:301008
HP:0034434	Abnormal communication	10815	CPLX1	OMIM:617976
HP:0034434	Abnormal communication	3747	KCNC2	OMIM:619913
HP:0034434	Abnormal communication	1213	CLTC	OMIM:617854
HP:0034434	Abnormal communication	25782	RAB3GAP2	OMIM:614225
HP:0034434	Abnormal communication	1861	TOR1A	OMIM:618947
HP:0034434	Abnormal communication	22931	RAB18	OMIM:614222
HP:0034434	Abnormal communication	56270	WDR45B	OMIM:617977
HP:0034434	Abnormal communication	6182	MRPL12	OMIM:618951
HP:0034434	Abnormal communication	200894	ARL13B	OMIM:612291
HP:0034434	Abnormal communication	122553	TRAPPC6B	OMIM:617862
HP:0034434	Abnormal communication	9918	NCAPD2	OMIM:617983
HP:0034434	Abnormal communication	7204	TRIO	ORPHA:476126
HP:0034434	Abnormal communication	57688	ZSWIM6	OMIM:617865
HP:0034434	Abnormal communication	1806	DPYD	ORPHA:1675
HP:0034434	Abnormal communication	2893	GRIA4	OMIM:617864
HP:0034434	Abnormal communication	79867	TCTN2	OMIM:616654
HP:0034434	Abnormal communication	81562	LMAN2L	OMIM:617863
HP:0034434	Abnormal communication	2890	GRIA1	OMIM:619927
HP:0034434	Abnormal communication	2890	GRIA1	OMIM:619931
HP:0034434	Abnormal communication	54805	CNNM2	OMIM:616418
HP:0034434	Abnormal communication	55704	CCDC88A	OMIM:617507
HP:0034434	Abnormal communication	55164	SHQ1	OMIM:619922
HP:0034434	Abnormal communication	6509	SLC1A4	OMIM:616657
HP:0034434	Abnormal communication	84628	NTNG2	OMIM:618718
HP:0034434	Abnormal communication	3756	KCNH1	ORPHA:420561
HP:0034434	Abnormal communication	51	ACOX1	OMIM:618960
HP:0034434	Abnormal communication	54802	TRIT1	OMIM:617873
HP:0034434	Abnormal communication	5879	RAC1	OMIM:617751
HP:0034434	Abnormal communication	5879	RAC1	ORPHA:500159
HP:0034434	Abnormal communication	9197	SLC33A1	OMIM:614482
HP:0034434	Abnormal communication	2806	GOT2	OMIM:618721
HP:0034434	Abnormal communication	57731	SPTBN4	OMIM:617519
HP:0034434	Abnormal communication	547	KIF1A	OMIM:614255
HP:0034434	Abnormal communication	57194	ATP10A	ORPHA:411515
HP:0034434	Abnormal communication	9990	SLC12A6	OMIM:218000
HP:0034434	Abnormal communication	1203	CLN5	ORPHA:228360
HP:0034434	Abnormal communication	57459	GATAD2B	OMIM:615074
HP:0034434	Abnormal communication	3975	LHX1	ORPHA:261265
HP:0034434	Abnormal communication	6928	HNF1B	ORPHA:261265
HP:0034434	Abnormal communication	79853	TM4SF20	OMIM:615432
HP:0034434	Abnormal communication	9289	ADGRG1	OMIM:615752
HP:0034434	Abnormal communication	9289	ADGRG1	ORPHA:98889
HP:0034434	Abnormal communication	9289	ADGRG1	ORPHA:101070
HP:0034434	Abnormal communication	6775	STAT4	ORPHA:93552
HP:0034434	Abnormal communication	6696	SPP1	ORPHA:93552
HP:0034434	Abnormal communication	3654	IRAK1	ORPHA:93552
HP:0034434	Abnormal communication	5297	PI4KA	ORPHA:98889
HP:0034434	Abnormal communication	27286	SRPX2	ORPHA:98889
HP:0034434	Abnormal communication	2705	GJB1	ORPHA:101075
HP:0034434	Abnormal communication	5728	PTEN	ORPHA:101070
HP:0034434	Abnormal communication	5631	PRPS1	ORPHA:99014
HP:0034434	Abnormal communication	58508	KMT2C	ORPHA:261652
HP:0034434	Abnormal communication	613	BCR	ORPHA:261330
HP:0034434	Abnormal communication	1399	CRKL	ORPHA:261330
HP:0034434	Abnormal communication	5594	MAPK1	ORPHA:261330
HP:0034434	Abnormal communication	5575	PRKAR1B	ORPHA:412066
HP:0034434	Abnormal communication	3178	HNRNPA1	ORPHA:52430
HP:0034434	Abnormal communication	3181	HNRNPA2B1	ORPHA:52430
HP:0034434	Abnormal communication	4854	NOTCH3	ORPHA:136
HP:0034434	Abnormal communication	55777	MBD5	OMIM:156200
HP:0034434	Abnormal communication	27086	FOXP1	OMIM:613670
HP:0034434	Abnormal communication	26047	CNTNAP2	OMIM:610042
HP:0034434	Abnormal communication	8831	SYNGAP1	OMIM:612621
HP:0034434	Abnormal communication	5664	PSEN2	ORPHA:1020
HP:0034434	Abnormal communication	10452	TOMM40	ORPHA:1020
HP:0034434	Abnormal communication	351	APP	ORPHA:1020
HP:0034434	Abnormal communication	10347	ABCA7	ORPHA:1020
HP:0034434	Abnormal communication	6653	SORL1	ORPHA:1020
HP:0034434	Abnormal communication	5048	PAFAH1B1	ORPHA:95232
HP:0034434	Abnormal communication	1641	DCX	ORPHA:2148
HP:0034434	Abnormal communication	29110	TBK1	OMIM:616439
HP:0034434	Abnormal communication	2903	GRIN2A	ORPHA:98818
HP:0034434	Abnormal communication	4763	NF1	ORPHA:97685
HP:0034434	Abnormal communication	79158	GNPTAB	ORPHA:576
HP:0034434	Abnormal communication	8565	YARS1	OMIM:619418
HP:0034434	Abnormal communication	6389	SDHA	ORPHA:3208
HP:0034434	Abnormal communication	6390	SDHB	ORPHA:3208
HP:0034434	Abnormal communication	6392	SDHD	ORPHA:3208
HP:0034434	Abnormal communication	644096	SDHAF1	ORPHA:3208
HP:0034434	Abnormal communication	10381	TUBB3	ORPHA:300570
HP:0034434	Abnormal communication	9439	MED23	OMIM:614249
HP:0034434	Abnormal communication	10020	GNE	ORPHA:3166
HP:0034434	Abnormal communication	8085	KMT2D	OMIM:620186
HP:0034434	Abnormal communication	6472	SHMT2	OMIM:619121
HP:0034434	Abnormal communication	2782	GNB1	ORPHA:488613
HP:0034434	Abnormal communication	2782	GNB1	OMIM:616973
HP:0034434	Abnormal communication	27245	AHDC1	ORPHA:412069
HP:0034434	Abnormal communication	55186	SLC25A36	OMIM:620211
HP:0034434	Abnormal communication	89970	RSPRY1	ORPHA:457395
HP:0034434	Abnormal communication	6872	TAF1	ORPHA:480907
HP:0034434	Abnormal communication	171023	ASXL1	ORPHA:97297
HP:0034434	Abnormal communication	25970	SH2B1	ORPHA:261197
HP:0034434	Abnormal communication	2892	GRIA3	ORPHA:364028
HP:0034434	Abnormal communication	2592	GALT	ORPHA:79239
HP:0034434	Abnormal communication	93986	FOXP2	ORPHA:209908
HP:0034434	Abnormal communication	93986	FOXP2	OMIM:602081
HP:0034434	Abnormal communication	6515	SLC2A3	ORPHA:399
HP:0034434	Abnormal communication	4487	MSX1	ORPHA:141291
HP:0034434	Abnormal communication	4487	MSX1	ORPHA:199302
HP:0034434	Abnormal communication	4487	MSX1	ORPHA:199306
HP:0034434	Abnormal communication	5818	NECTIN1	ORPHA:141291
HP:0034434	Abnormal communication	5818	NECTIN1	ORPHA:199302
HP:0034434	Abnormal communication	5818	NECTIN1	ORPHA:199306
HP:0034434	Abnormal communication	8626	TP63	ORPHA:141291
HP:0034434	Abnormal communication	8626	TP63	ORPHA:199302
HP:0034434	Abnormal communication	8626	TP63	ORPHA:199306
HP:0034434	Abnormal communication	3664	IRF6	ORPHA:141291
HP:0034434	Abnormal communication	3664	IRF6	ORPHA:199302
HP:0034434	Abnormal communication	3664	IRF6	ORPHA:199306
HP:0034434	Abnormal communication	4692	NDN	ORPHA:177904
HP:0034434	Abnormal communication	4692	NDN	ORPHA:177901
HP:0034434	Abnormal communication	5332	PLCB4	OMIM:614669
HP:0034434	Abnormal communication	8659	ALDH4A1	ORPHA:79101
HP:0034434	Abnormal communication	1739	DLG1	ORPHA:199306
HP:0034434	Abnormal communication	999	CDH1	ORPHA:199306
HP:0034434	Abnormal communication	5156	PDGFRA	ORPHA:199306
HP:0034434	Abnormal communication	9411	ARHGAP29	ORPHA:199306
HP:0034434	Abnormal communication	1748	DLX4	ORPHA:199306
HP:0034434	Abnormal communication	2773	GNAI3	OMIM:602483
HP:0034434	Abnormal communication	5339	PLEC	ORPHA:257
HP:0034434	Abnormal communication	1540	CYLD	OMIM:619132
HP:0034434	Abnormal communication	57680	CHD8	OMIM:615032
HP:0034434	Abnormal communication	4137	MAPT	OMIM:172700
HP:0034434	Abnormal communication	4137	MAPT	ORPHA:275864
HP:0034434	Abnormal communication	5663	PSEN1	OMIM:172700
HP:0034434	Abnormal communication	5663	PSEN1	ORPHA:275864
HP:0034434	Abnormal communication	6711	SPTBN1	OMIM:619475
HP:0034434	Abnormal communication	23394	ADNP	OMIM:615873
HP:0034434	Abnormal communication	162417	NAGS	ORPHA:927
HP:0034434	Abnormal communication	10165	SLC25A13	ORPHA:247585
HP:0034434	Abnormal communication	8924	HERC2	OMIM:615516
HP:0034434	Abnormal communication	201163	FLCN	OMIM:610883
HP:0034434	Abnormal communication	2260	FGFR1	ORPHA:2396
HP:0034434	Abnormal communication	3845	KRAS	ORPHA:2396
HP:0034434	Abnormal communication	3067	HDC	OMIM:137580
HP:0034434	Abnormal communication	114798	SLITRK1	OMIM:137580
HP:0034434	Abnormal communication	79813	EHMT1	ORPHA:96147
HP:0034434	Abnormal communication	9719	ADAMTSL2	ORPHA:1901
HP:0034434	Abnormal communication	9509	ADAMTS2	ORPHA:1901
HP:0034434	Abnormal communication	118987	PDZD8	OMIM:620021
HP:0034434	Abnormal communication	10159	ATP6AP2	ORPHA:93952
HP:0034434	Abnormal communication	6925	TCF4	ORPHA:2896
HP:0034434	Abnormal communication	71	ACTG1	ORPHA:2995
HP:0034434	Abnormal communication	60	ACTB	ORPHA:2995
HP:0034434	Abnormal communication	54539	NDUFB11	ORPHA:2556
HP:0034434	Abnormal communication	1349	COX7B	ORPHA:2556
HP:0034434	Abnormal communication	3052	HCCS	ORPHA:2556
HP:0034434	Abnormal communication	55343	SLC35C1	OMIM:266265
HP:0034434	Abnormal communication	22827	PUF60	ORPHA:508488
HP:0034434	Abnormal communication	2898	GRIK2	OMIM:619580
HP:0034434	Abnormal communication	6595	SMARCA2	ORPHA:3051
HP:0034434	Abnormal communication	7319	UBE2A	OMIM:300860
HP:0034434	Abnormal communication	7319	UBE2A	ORPHA:163956
HP:0034434	Abnormal communication	6616	SNAP25	OMIM:616330
HP:0034434	Abnormal communication	25978	CHMP2B	ORPHA:275864
HP:0034434	Abnormal communication	2896	GRN	ORPHA:275864
HP:0034434	Abnormal communication	54664	TMEM106B	ORPHA:275864
HP:0034434	Abnormal communication	8878	SQSTM1	ORPHA:275864
HP:0034434	Abnormal communication	54209	TREM2	ORPHA:275864
HP:0034434	Abnormal communication	7415	VCP	ORPHA:275864
HP:0034434	Abnormal communication	139285	AMER1	ORPHA:2780
HP:0034434	Abnormal communication	150468	CKAP2L	ORPHA:3255
HP:0034434	Abnormal communication	10743	RAI1	ORPHA:1713
HP:0034434	Abnormal communication	1278	COL1A2	ORPHA:1899
HP:0034434	Abnormal communication	1277	COL1A1	ORPHA:1899
HP:0034434	Abnormal communication	7314	UBB	ORPHA:99772
HP:0034434	Abnormal communication	57822	GRHL3	ORPHA:99772
HP:0034434	Abnormal communication	7840	ALMS1	ORPHA:64
HP:0034434	Abnormal communication	5058	PAK1	OMIM:618158
HP:0034434	Abnormal communication	27161	AGO2	OMIM:619149
HP:0034434	Abnormal communication	9213	XPR1	OMIM:616413
HP:0034434	Abnormal communication	80025	PANK2	OMIM:234200
HP:0034435	Abnormal eye contact	388015	RTL1	ORPHA:254531
HP:0034435	Abnormal eye contact	8788	DLK1	ORPHA:254531
HP:0034435	Abnormal eye contact	55384	MEG3	ORPHA:254531
HP:0034435	Abnormal eye contact	158	ADSL	OMIM:103050
HP:0034435	Abnormal eye contact	6792	CDKL5	OMIM:300672
HP:0034435	Abnormal eye contact	6792	CDKL5	ORPHA:3095
HP:0034435	Abnormal eye contact	6792	CDKL5	ORPHA:505652
HP:0034435	Abnormal eye contact	8243	SMC1A	OMIM:301044
HP:0034435	Abnormal eye contact	8243	SMC1A	ORPHA:3095
HP:0034435	Abnormal eye contact	54539	NDUFB11	ORPHA:2609
HP:0034435	Abnormal eye contact	25915	NDUFAF3	ORPHA:2609
HP:0034435	Abnormal eye contact	25915	NDUFAF3	OMIM:618240
HP:0034435	Abnormal eye contact	51103	NDUFAF1	ORPHA:2609
HP:0034435	Abnormal eye contact	91942	NDUFAF2	ORPHA:2609
HP:0034435	Abnormal eye contact	51300	TIMMDC1	ORPHA:2609
HP:0034435	Abnormal eye contact	4716	NDUFB10	ORPHA:2609
HP:0034435	Abnormal eye contact	4723	NDUFV1	ORPHA:2609
HP:0034435	Abnormal eye contact	55572	FOXRED1	ORPHA:2609
HP:0034435	Abnormal eye contact	284184	NDUFAF8	ORPHA:2609
HP:0034435	Abnormal eye contact	55863	TMEM126B	ORPHA:2609
HP:0034435	Abnormal eye contact	4535	MT-ND1	ORPHA:2609
HP:0034435	Abnormal eye contact	4537	MT-ND3	ORPHA:2609
HP:0034435	Abnormal eye contact	4729	NDUFV2	ORPHA:2609
HP:0034435	Abnormal eye contact	4694	NDUFA1	ORPHA:2609
HP:0034435	Abnormal eye contact	4720	NDUFS2	ORPHA:2609
HP:0034435	Abnormal eye contact	4724	NDUFS4	ORPHA:2609
HP:0034435	Abnormal eye contact	4724	NDUFS4	OMIM:252010
HP:0034435	Abnormal eye contact	4726	NDUFS6	ORPHA:2609
HP:0034435	Abnormal eye contact	4728	NDUFS8	ORPHA:2609
HP:0034435	Abnormal eye contact	4722	NDUFS3	ORPHA:2609
HP:0034435	Abnormal eye contact	79133	NDUFAF5	ORPHA:2609
HP:0034435	Abnormal eye contact	126328	NDUFA11	ORPHA:2609
HP:0034435	Abnormal eye contact	4709	NDUFB3	ORPHA:2609
HP:0034435	Abnormal eye contact	80224	NUBPL	ORPHA:2609
HP:0034435	Abnormal eye contact	29078	NDUFAF4	ORPHA:2609
HP:0034435	Abnormal eye contact	29078	NDUFAF4	OMIM:618237
HP:0034435	Abnormal eye contact	374291	NDUFS7	ORPHA:2609
HP:0034435	Abnormal eye contact	4700	NDUFA6	ORPHA:2609
HP:0034435	Abnormal eye contact	4536	MT-ND2	ORPHA:2609
HP:0034435	Abnormal eye contact	4719	NDUFS1	ORPHA:2609
HP:0034435	Abnormal eye contact	4715	NDUFB9	ORPHA:2609
HP:0034435	Abnormal eye contact	79876	UBA5	OMIM:617132
HP:0034435	Abnormal eye contact	23013	SPEN	OMIM:619312
HP:0034435	Abnormal eye contact	340533	NEXMIF	OMIM:300912
HP:0034435	Abnormal eye contact	23316	CUX2	OMIM:618141
HP:0034435	Abnormal eye contact	2892	GRIA3	ORPHA:364028
HP:0034435	Abnormal eye contact	8506	CNTNAP1	OMIM:618186
HP:0034435	Abnormal eye contact	55773	TBC1D23	OMIM:617695
HP:0034435	Abnormal eye contact	6711	SPTBN1	OMIM:619475
HP:0034435	Abnormal eye contact	10564	ARFGEF2	OMIM:608097
HP:0034435	Abnormal eye contact	2290	FOXG1	OMIM:613454
HP:0034435	Abnormal eye contact	23394	ADNP	OMIM:615873
HP:0034435	Abnormal eye contact	85476	GFM1	OMIM:609060
HP:0034435	Abnormal eye contact	9254	CACNA2D2	OMIM:618501
HP:0034435	Abnormal eye contact	4983	OPHN1	ORPHA:137831
HP:0034435	Abnormal eye contact	7360	UGP2	OMIM:618744
HP:0034435	Abnormal eye contact	85440	DOCK7	ORPHA:411986
HP:0034435	Abnormal eye contact	53616	ADAM22	OMIM:617933
HP:0034435	Abnormal eye contact	4191	MDH2	OMIM:617339
HP:0034435	Abnormal eye contact	85358	SHANK3	OMIM:606232
HP:0034435	Abnormal eye contact	22845	DOLK	ORPHA:91131
HP:0034435	Abnormal eye contact	170302	ARX	OMIM:308350
HP:0034435	Abnormal eye contact	26047	CNTNAP2	ORPHA:163681
HP:0034435	Abnormal eye contact	80222	TARS2	OMIM:615918
HP:0034435	Abnormal eye contact	22854	NTNG1	ORPHA:3095
HP:0034435	Abnormal eye contact	9568	GABBR2	ORPHA:3095
HP:0034435	Abnormal eye contact	4204	MECP2	ORPHA:3095
HP:0034435	Abnormal eye contact	4204	MECP2	OMIM:300260
HP:0034435	Abnormal eye contact	60558	GUF1	OMIM:617065
HP:0034435	Abnormal eye contact	374354	NHLRC2	OMIM:618278
HP:0034435	Abnormal eye contact	6857	SYT1	ORPHA:522077
HP:0034435	Abnormal eye contact	79868	ALG13	OMIM:300884
HP:0034435	Abnormal eye contact	79868	ALG13	ORPHA:324422
HP:0034435	Abnormal eye contact	5917	RARS1	ORPHA:438114
HP:0034435	Abnormal eye contact	1352	COX10	OMIM:619046
HP:0034435	Abnormal eye contact	84340	GFM2	OMIM:618397
HP:0034435	Abnormal eye contact	84340	GFM2	ORPHA:565624
HP:0034435	Abnormal eye contact	23287	AGTPBP1	OMIM:618276
HP:0034435	Abnormal eye contact	477	ATP1A2	OMIM:619605
HP:0034435	Abnormal eye contact	2904	GRIN2B	OMIM:616139
HP:0034435	Abnormal eye contact	6487	ST3GAL3	OMIM:615006
HP:0034435	Abnormal eye contact	2902	GRIN1	OMIM:617820
HP:0034435	Abnormal eye contact	2555	GABRA2	OMIM:618557
HP:0034435	Abnormal eye contact	10681	GNB5	ORPHA:542306
HP:0034435	Abnormal eye contact	57582	KCNT1	OMIM:614959
HP:0034435	Abnormal eye contact	10978	CLP1	OMIM:615803
HP:0034435	Abnormal eye contact	54820	NDE1	OMIM:605013
HP:0034435	Abnormal eye contact	10522	DEAF1	ORPHA:468620
HP:0034435	Abnormal eye contact	10522	DEAF1	OMIM:615828
HP:0034435	Abnormal eye contact	56652	TWNK	OMIM:271245
HP:0034435	Abnormal eye contact	55777	MBD5	OMIM:156200
HP:0034435	Abnormal eye contact	4718	NDUFC2	OMIM:619170
HP:0034435	Abnormal eye contact	2590	GALNT2	OMIM:618885
HP:0034435	Abnormal eye contact	2332	FMR1	ORPHA:449291
HP:0034435	Abnormal eye contact	2332	FMR1	OMIM:300624
HP:0034435	Abnormal eye contact	85365	ALG2	OMIM:607906
HP:0034435	Abnormal eye contact	111	ADCY5	OMIM:619651
HP:0034435	Abnormal eye contact	8120	AP3B2	OMIM:617276
HP:0034435	Abnormal eye contact	125988	MICOS13	OMIM:618329
HP:0034435	Abnormal eye contact	816	CAMK2B	OMIM:617799
HP:0034435	Abnormal eye contact	51227	PIGP	OMIM:617599
HP:0034435	Abnormal eye contact	201163	FLCN	OMIM:610883
HP:0034435	Abnormal eye contact	51079	NDUFA13	OMIM:618249
HP:0034435	Abnormal eye contact	81615	TMEM163	OMIM:620243
HP:0034435	Abnormal eye contact	259232	NALCN	OMIM:615419
HP:0034435	Abnormal eye contact	8604	SLC25A12	OMIM:612949
HP:0034435	Abnormal eye contact	22827	PUF60	ORPHA:508488
HP:0034435	Abnormal eye contact	5422	POLA1	OMIM:301030
HP:0034435	Abnormal eye contact	6576	SLC25A1	OMIM:615182
HP:0034435	Abnormal eye contact	9758	FRMPD4	OMIM:300983
HP:0034435	Abnormal eye contact	4761	NEUROD2	OMIM:618374
HP:0034435	Abnormal eye contact	3658	IREB2	OMIM:618451
HP:0034435	Abnormal eye contact	10243	GPHN	OMIM:615501
HP:0034435	Abnormal eye contact	4208	MEF2C	OMIM:613443
HP:0034435	Abnormal eye contact	4915	NTRK2	OMIM:613886
HP:0034435	Abnormal eye contact	2744	GLS	OMIM:618339
HP:0034435	Abnormal eye contact	81603	TRIM8	OMIM:619428
HP:0034435	Abnormal eye contact	9230	RAB11B	OMIM:617807
HP:0034435	Abnormal eye contact	284111	SLC13A5	OMIM:615905
HP:0001730	Progressive hearing impairment	4512	MT-CO1	OMIM:540000
HP:0001730	Progressive hearing impairment	4513	MT-CO2	OMIM:540000
HP:0001730	Progressive hearing impairment	4514	MT-CO3	OMIM:540000
HP:0001730	Progressive hearing impairment	4519	MT-CYB	OMIM:540000
HP:0001730	Progressive hearing impairment	4511	MT-TC	OMIM:540000
HP:0001730	Progressive hearing impairment	4574	MT-TS1	OMIM:540000
HP:0001730	Progressive hearing impairment	4575	MT-TS2	OMIM:540000
HP:0001730	Progressive hearing impairment	4558	MT-TF	OMIM:540000
HP:0001730	Progressive hearing impairment	4541	MT-ND6	OMIM:540000
HP:0001730	Progressive hearing impairment	4567	MT-TL1	OMIM:540000
HP:0001730	Progressive hearing impairment	4540	MT-ND5	OMIM:540000
HP:0001730	Progressive hearing impairment	4566	MT-TK	OMIM:540000
HP:0001730	Progressive hearing impairment	4535	MT-ND1	OMIM:540000
HP:0001730	Progressive hearing impairment	4572	MT-TQ	OMIM:540000
HP:0001730	Progressive hearing impairment	4577	MT-TV	OMIM:540000
HP:0001730	Progressive hearing impairment	4578	MT-TW	OMIM:540000
HP:0001730	Progressive hearing impairment	114548	NLRP3	ORPHA:575
HP:0001730	Progressive hearing impairment	114548	NLRP3	OMIM:191900
HP:0001730	Progressive hearing impairment	114548	NLRP3	OMIM:607115
HP:0001730	Progressive hearing impairment	7840	ALMS1	ORPHA:64
HP:0001730	Progressive hearing impairment	7840	ALMS1	OMIM:203800
HP:0001730	Progressive hearing impairment	4694	NDUFA1	OMIM:301020
HP:0001730	Progressive hearing impairment	79784	MYH14	OMIM:600652
HP:0001730	Progressive hearing impairment	1687	GSDME	OMIM:600994
HP:0001730	Progressive hearing impairment	10205	MPZL2	OMIM:618145
HP:0001730	Progressive hearing impairment	407053	MIR96	OMIM:613074
HP:0001730	Progressive hearing impairment	71	ACTG1	OMIM:604717
HP:0001730	Progressive hearing impairment	10463	SLC30A9	OMIM:617595
HP:0001730	Progressive hearing impairment	22901	ARSG	OMIM:618144
HP:0001730	Progressive hearing impairment	2625	GATA3	ORPHA:2237
HP:0001730	Progressive hearing impairment	4171	MCM2	OMIM:616968
HP:0001730	Progressive hearing impairment	55699	IARS2	ORPHA:436174
HP:0001730	Progressive hearing impairment	2248	FGF3	ORPHA:2791
HP:0001730	Progressive hearing impairment	53904	MYO3A	OMIM:607101
HP:0001730	Progressive hearing impairment	2671	GFER	ORPHA:330054
HP:0001730	Progressive hearing impairment	8085	KMT2D	OMIM:620186
HP:0001730	Progressive hearing impairment	5456	POU3F4	OMIM:304400
HP:0001730	Progressive hearing impairment	10804	GJB6	OMIM:304400
HP:0001730	Progressive hearing impairment	2706	GJB2	OMIM:304400
HP:0001730	Progressive hearing impairment	4359	MPZ	OMIM:607736
HP:0001730	Progressive hearing impairment	1678	TIMM8A	OMIM:304700
HP:0001730	Progressive hearing impairment	79966	SCD5	OMIM:619086
HP:0001730	Progressive hearing impairment	4646	MYO6	OMIM:606346
HP:0001730	Progressive hearing impairment	478	ATP1A3	OMIM:601338
HP:0001730	Progressive hearing impairment	7466	WFS1	OMIM:600965
HP:0001730	Progressive hearing impairment	163183	SYNE4	OMIM:615540
HP:0001730	Progressive hearing impairment	389207	GRXCR1	OMIM:613285
HP:0001730	Progressive hearing impairment	23395	LARS2	OMIM:615300
HP:0001730	Progressive hearing impairment	286262	TPRN	OMIM:613307
HP:0001730	Progressive hearing impairment	4976	OPA1	OMIM:125250
HP:0001730	Progressive hearing impairment	22953	P2RX2	OMIM:608224
HP:0001730	Progressive hearing impairment	10755	GIPC1	ORPHA:98897
HP:0001730	Progressive hearing impairment	100996717	NOTCH2NLC	ORPHA:98897
HP:0001730	Progressive hearing impairment	84265	POLR3GL	OMIM:619234
HP:0001730	Progressive hearing impairment	23312	DMXL2	ORPHA:453533
HP:0001730	Progressive hearing impairment	23312	DMXL2	OMIM:616113
HP:0001730	Progressive hearing impairment	57465	TBC1D24	OMIM:616044
HP:0001730	Progressive hearing impairment	5269	SERPINB6	OMIM:613453
HP:0001730	Progressive hearing impairment	8799	PEX11B	OMIM:614920
HP:0001730	Progressive hearing impairment	9570	GOSR2	OMIM:620166
HP:0001730	Progressive hearing impairment	121340	SP7	OMIM:613849
HP:0001730	Progressive hearing impairment	56652	TWNK	OMIM:609286
HP:0000408	Progressive sensorineural hearing impairment	4512	MT-CO1	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4513	MT-CO2	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4514	MT-CO3	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4519	MT-CYB	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4511	MT-TC	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4574	MT-TS1	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4575	MT-TS2	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4558	MT-TF	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4541	MT-ND6	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4567	MT-TL1	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4540	MT-ND5	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4566	MT-TK	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4535	MT-ND1	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4572	MT-TQ	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4577	MT-TV	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	4578	MT-TW	OMIM:540000
HP:0000408	Progressive sensorineural hearing impairment	114548	NLRP3	ORPHA:575
HP:0000408	Progressive sensorineural hearing impairment	114548	NLRP3	OMIM:191900
HP:0000408	Progressive sensorineural hearing impairment	114548	NLRP3	OMIM:607115
HP:0000408	Progressive sensorineural hearing impairment	7840	ALMS1	ORPHA:64
HP:0000408	Progressive sensorineural hearing impairment	7840	ALMS1	OMIM:203800
HP:0000408	Progressive sensorineural hearing impairment	4694	NDUFA1	OMIM:301020
HP:0000408	Progressive sensorineural hearing impairment	79784	MYH14	OMIM:600652
HP:0000408	Progressive sensorineural hearing impairment	1687	GSDME	OMIM:600994
HP:0000408	Progressive sensorineural hearing impairment	10205	MPZL2	OMIM:618145
HP:0000408	Progressive sensorineural hearing impairment	407053	MIR96	OMIM:613074
HP:0000408	Progressive sensorineural hearing impairment	71	ACTG1	OMIM:604717
HP:0000408	Progressive sensorineural hearing impairment	10463	SLC30A9	OMIM:617595
HP:0000408	Progressive sensorineural hearing impairment	22901	ARSG	OMIM:618144
HP:0000408	Progressive sensorineural hearing impairment	2625	GATA3	ORPHA:2237
HP:0000408	Progressive sensorineural hearing impairment	4171	MCM2	OMIM:616968
HP:0000408	Progressive sensorineural hearing impairment	55699	IARS2	ORPHA:436174
HP:0000408	Progressive sensorineural hearing impairment	2248	FGF3	ORPHA:2791
HP:0000408	Progressive sensorineural hearing impairment	53904	MYO3A	OMIM:607101
HP:0000408	Progressive sensorineural hearing impairment	2671	GFER	ORPHA:330054
HP:0000408	Progressive sensorineural hearing impairment	8085	KMT2D	OMIM:620186
HP:0000408	Progressive sensorineural hearing impairment	5456	POU3F4	OMIM:304400
HP:0000408	Progressive sensorineural hearing impairment	10804	GJB6	OMIM:304400
HP:0000408	Progressive sensorineural hearing impairment	2706	GJB2	OMIM:304400
HP:0000408	Progressive sensorineural hearing impairment	4359	MPZ	OMIM:607736
HP:0000408	Progressive sensorineural hearing impairment	1678	TIMM8A	OMIM:304700
HP:0000408	Progressive sensorineural hearing impairment	79966	SCD5	OMIM:619086
HP:0000408	Progressive sensorineural hearing impairment	4646	MYO6	OMIM:606346
HP:0000408	Progressive sensorineural hearing impairment	478	ATP1A3	OMIM:601338
HP:0000408	Progressive sensorineural hearing impairment	7466	WFS1	OMIM:600965
HP:0000408	Progressive sensorineural hearing impairment	163183	SYNE4	OMIM:615540
HP:0000408	Progressive sensorineural hearing impairment	389207	GRXCR1	OMIM:613285
HP:0000408	Progressive sensorineural hearing impairment	23395	LARS2	OMIM:615300
HP:0000408	Progressive sensorineural hearing impairment	286262	TPRN	OMIM:613307
HP:0000408	Progressive sensorineural hearing impairment	4976	OPA1	OMIM:125250
HP:0000408	Progressive sensorineural hearing impairment	22953	P2RX2	OMIM:608224
HP:0000408	Progressive sensorineural hearing impairment	10755	GIPC1	ORPHA:98897
HP:0000408	Progressive sensorineural hearing impairment	100996717	NOTCH2NLC	ORPHA:98897
HP:0008593	Prominent antitragus	10026	PIGK	OMIM:618879
HP:0008593	Prominent antitragus	283209	PGM2L1	OMIM:620191
HP:0008593	Prominent antitragus	9469	CHST3	OMIM:245600
HP:0008593	Prominent antitragus	26229	B3GAT3	OMIM:245600
HP:0008593	Prominent antitragus	7994	KAT6A	OMIM:616268
HP:0008593	Prominent antitragus	25782	RAB3GAP2	OMIM:212720
HP:0008596	Postlingual sensorineural hearing impairment	1678	TIMM8A	OMIM:304700
HP:0008596	Postlingual sensorineural hearing impairment	1678	TIMM8A	ORPHA:52368
HP:0008596	Postlingual sensorineural hearing impairment	1690	COCH	OMIM:601369
HP:0008598	Mild conductive hearing impairment	1513	CTSK	ORPHA:763
HP:0034442	Abnormal circulating erythropoietin concentration	2034	EPAS1	OMIM:611783
HP:0034442	Abnormal circulating erythropoietin concentration	2056	EPO	OMIM:617907
HP:0034442	Abnormal circulating erythropoietin concentration	7428	VHL	OMIM:263400
HP:0034445	Reduced gamma-glutamyltransferase level	2678	GGT1	OMIM:231950
HP:0034444	Abnormal gamma-glutamyltransferase level	7840	ALMS1	ORPHA:64
HP:0034444	Abnormal gamma-glutamyltransferase level	3376	IARS1	OMIM:617093
HP:0034444	Abnormal gamma-glutamyltransferase level	2819	GPD1	OMIM:614480
HP:0034444	Abnormal gamma-glutamyltransferase level	5311	PKD2	OMIM:613095
HP:0034444	Abnormal gamma-glutamyltransferase level	51473	DCDC2	OMIM:617394
HP:0034444	Abnormal gamma-glutamyltransferase level	197258	FCSK	OMIM:618324
HP:0034444	Abnormal gamma-glutamyltransferase level	79989	IFT56	OMIM:619534
HP:0034444	Abnormal gamma-glutamyltransferase level	23019	CNOT1	OMIM:618500
HP:0034444	Abnormal gamma-glutamyltransferase level	57128	LYRM4	OMIM:615595
HP:0034444	Abnormal gamma-glutamyltransferase level	50619	DEF6	OMIM:619573
HP:0034444	Abnormal gamma-glutamyltransferase level	11222	MRPL3	OMIM:614582
HP:0034444	Abnormal gamma-glutamyltransferase level	125988	MICOS13	OMIM:618329
HP:0034444	Abnormal gamma-glutamyltransferase level	3988	LIPA	OMIM:278000
HP:0034444	Abnormal gamma-glutamyltransferase level	4358	MPV17	OMIM:256810
HP:0034444	Abnormal gamma-glutamyltransferase level	5828	PEX2	OMIM:614866
HP:0034444	Abnormal gamma-glutamyltransferase level	5314	PKHD1	ORPHA:53035
HP:0034444	Abnormal gamma-glutamyltransferase level	5314	PKHD1	ORPHA:731
HP:0034444	Abnormal gamma-glutamyltransferase level	123264	SLC51B	OMIM:619481
HP:0034444	Abnormal gamma-glutamyltransferase level	10165	SLC25A13	OMIM:605814
HP:0034444	Abnormal gamma-glutamyltransferase level	10165	SLC25A13	ORPHA:247598
HP:0034444	Abnormal gamma-glutamyltransferase level	10165	SLC25A13	OMIM:603471
HP:0034444	Abnormal gamma-glutamyltransferase level	5244	ABCB4	OMIM:602347
HP:0034444	Abnormal gamma-glutamyltransferase level	5244	ABCB4	ORPHA:69663
HP:0034444	Abnormal gamma-glutamyltransferase level	197131	UBR1	OMIM:243800
HP:0034444	Abnormal gamma-glutamyltransferase level	11277	TREX1	ORPHA:247691
HP:0034444	Abnormal gamma-glutamyltransferase level	26276	VPS33B	OMIM:208085
HP:0034444	Abnormal gamma-glutamyltransferase level	7504	XK	OMIM:300842
HP:0034444	Abnormal gamma-glutamyltransferase level	6514	SLC2A2	OMIM:227810
HP:0034444	Abnormal gamma-glutamyltransferase level	162	AP1B1	OMIM:242150
HP:0034444	Abnormal gamma-glutamyltransferase level	4141	MARS1	OMIM:615486
HP:0034444	Abnormal gamma-glutamyltransferase level	200931	SLC51A	OMIM:619484
HP:0034444	Abnormal gamma-glutamyltransferase level	55340	GIMAP5	OMIM:619463
HP:0034444	Abnormal gamma-glutamyltransferase level	113220	KIF12	OMIM:619662
HP:0034444	Abnormal gamma-glutamyltransferase level	57511	COG6	OMIM:614576
HP:0034444	Abnormal gamma-glutamyltransferase level	54931	TRMT10C	OMIM:616974
HP:0034444	Abnormal gamma-glutamyltransferase level	2542	SLC37A4	OMIM:619525
HP:0034444	Abnormal gamma-glutamyltransferase level	4645	MYO5B	OMIM:619868
HP:0034444	Abnormal gamma-glutamyltransferase level	6513	SLC2A1	OMIM:608885
HP:0034444	Abnormal gamma-glutamyltransferase level	617	BCS1L	OMIM:124000
HP:0034444	Abnormal gamma-glutamyltransferase level	199221	DZIP1L	ORPHA:731
HP:0034444	Abnormal gamma-glutamyltransferase level	2678	GGT1	OMIM:231950
HP:0034449	Increased phytanic acid:pristanic acid ratio	23600	AMACR	OMIM:614307
HP:0034448	Abnormal phytanic acid:pristanic acid ratio	23600	AMACR	OMIM:614307
HP:0034454	Arachnoid granulation	91801	ALKBH8	OMIM:618504
HP:0034457	Hawkinsinuria	3242	HPD	OMIM:140350
HP:0034458	Elevated urinary phenylpyruvic acid level	5053	PAH	OMIM:261600
HP:0034464	Homocitrullinuria	10166	SLC25A15	OMIM:238970
HP:0034465	2-hydroxyadipic aciduria	55526	DHTKD1	OMIM:204750
HP:0034470	Elevated stool chloride content	1811	SLC26A3	OMIM:214700
HP:0034471	Increased fecal coproporphyrin III:coproporphyrin I ratio	1371	CPOX	OMIM:121300
HP:0034472	Increased fecal harderoporphyrin	1371	CPOX	OMIM:618892
HP:0034482	Abnormal spinal cord physiology	1593	CYP27A1	ORPHA:909
HP:0034482	Abnormal spinal cord physiology	8792	TNFRSF11A	OMIM:602080
HP:0034482	Abnormal spinal cord physiology	2961	GTF2E2	OMIM:616943
HP:0034482	Abnormal spinal cord physiology	348	APOE	OMIM:104310
HP:0034482	Abnormal spinal cord physiology	4353	MPO	OMIM:104300
HP:0034482	Abnormal spinal cord physiology	4846	NOS3	OMIM:104300
HP:0034482	Abnormal spinal cord physiology	3077	HFE	OMIM:104300
HP:0034482	Abnormal spinal cord physiology	351	APP	OMIM:104300
HP:0034482	Abnormal spinal cord physiology	5328	PLAU	OMIM:104300
HP:0034496	Abnormal brain glutamine level by MRS	55768	NGLY1	OMIM:615273
HP:0011603	Congenital malformation of the great arteries	123606	NIPA1	ORPHA:261183
HP:0011603	Congenital malformation of the great arteries	7283	TUBG1	ORPHA:261183
HP:0011603	Congenital malformation of the great arteries	81614	NIPA2	ORPHA:261183
HP:0011603	Congenital malformation of the great arteries	1024	CDK8	OMIM:618748
HP:0011603	Congenital malformation of the great arteries	100151683	RNU4ATAC	OMIM:210710
HP:0011603	Congenital malformation of the great arteries	5885	RAD21	OMIM:614701
HP:0011603	Congenital malformation of the great arteries	7355	SLC35A2	ORPHA:356961
HP:0011603	Congenital malformation of the great arteries	22800	RRAS2	OMIM:618624
HP:0011603	Congenital malformation of the great arteries	79813	EHMT1	ORPHA:96147
HP:0011603	Congenital malformation of the great arteries	23414	ZFPM2	ORPHA:3303
HP:0011603	Congenital malformation of the great arteries	23414	ZFPM2	OMIM:187500
HP:0011603	Congenital malformation of the great arteries	3791	KDR	ORPHA:3303
HP:0011603	Congenital malformation of the great arteries	182	JAG1	ORPHA:3303
HP:0011603	Congenital malformation of the great arteries	182	JAG1	OMIM:118450
HP:0011603	Congenital malformation of the great arteries	182	JAG1	OMIM:187500
HP:0011603	Congenital malformation of the great arteries	182	JAG1	OMIM:617992
HP:0011603	Congenital malformation of the great arteries	2324	FLT4	ORPHA:3303
HP:0011603	Congenital malformation of the great arteries	2324	FLT4	OMIM:618780
HP:0011603	Congenital malformation of the great arteries	10370	CITED2	ORPHA:3303
HP:0011603	Congenital malformation of the great arteries	8443	GNPAT	OMIM:222765
HP:0011603	Congenital malformation of the great arteries	1349	COX7B	OMIM:300887
HP:0011603	Congenital malformation of the great arteries	26275	HIBCH	ORPHA:88639
HP:0011603	Congenital malformation of the great arteries	26275	HIBCH	OMIM:250620
HP:0011603	Congenital malformation of the great arteries	29998	BICRA	OMIM:619325
HP:0011603	Congenital malformation of the great arteries	83479	DDX59	OMIM:174300
HP:0011603	Congenital malformation of the great arteries	83479	DDX59	ORPHA:2919
HP:0011603	Congenital malformation of the great arteries	10847	SRCAP	ORPHA:2044
HP:0011603	Congenital malformation of the great arteries	2260	FGFR1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	28514	DLL1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	2253	FGF8	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	6496	SIX3	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	7050	TGIF1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	6469	SHH	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	51684	SUFU	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	7546	ZIC2	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	2619	GAS1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	84976	DISP1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	2736	GLI2	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	8928	FOXH1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	5727	PTCH1	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	50937	CDON	ORPHA:280200
HP:0011603	Congenital malformation of the great arteries	1147	CHUK	OMIM:613630
HP:0011603	Congenital malformation of the great arteries	7026	NR2F2	OMIM:615779
HP:0011603	Congenital malformation of the great arteries	64359	NXN	ORPHA:1507
HP:0011603	Congenital malformation of the great arteries	4920	ROR2	ORPHA:1507
HP:0011603	Congenital malformation of the great arteries	9896	FIG4	ORPHA:3472
HP:0011603	Congenital malformation of the great arteries	9896	FIG4	OMIM:216340
HP:0011603	Congenital malformation of the great arteries	55697	VAC14	ORPHA:3472
HP:0011603	Congenital malformation of the great arteries	7852	CXCR4	ORPHA:51636
HP:0011603	Congenital malformation of the great arteries	8241	RBM10	OMIM:311900
HP:0011603	Congenital malformation of the great arteries	8241	RBM10	ORPHA:2886
HP:0011603	Congenital malformation of the great arteries	23118	TAB2	OMIM:614980
HP:0011603	Congenital malformation of the great arteries	8092	ALX1	ORPHA:306542
HP:0011603	Congenital malformation of the great arteries	57514	ARHGAP31	OMIM:100300
HP:0011603	Congenital malformation of the great arteries	57514	ARHGAP31	ORPHA:974
HP:0011603	Congenital malformation of the great arteries	3579	CXCR2	OMIM:619407
HP:0011603	Congenital malformation of the great arteries	2542	SLC37A4	OMIM:619525
HP:0011603	Congenital malformation of the great arteries	9993	DGCR2	OMIM:192430
HP:0011603	Congenital malformation of the great arteries	8220	ESS2	OMIM:192430
HP:0011603	Congenital malformation of the great arteries	8214	DGCR6	OMIM:192430
HP:0011603	Congenital malformation of the great arteries	54487	DGCR8	OMIM:192430
HP:0011603	Congenital malformation of the great arteries	3516	RBPJ	ORPHA:974
HP:0011603	Congenital malformation of the great arteries	57572	DOCK6	ORPHA:974
HP:0011603	Congenital malformation of the great arteries	10084	PQBP1	OMIM:309500
HP:0011603	Congenital malformation of the great arteries	1663	DDX11	OMIM:613398
HP:0011603	Congenital malformation of the great arteries	257	ALX3	OMIM:136760
HP:0011603	Congenital malformation of the great arteries	27152	INTU	OMIM:617925
HP:0011603	Congenital malformation of the great arteries	27152	INTU	OMIM:617926
HP:0011603	Congenital malformation of the great arteries	1718	DHCR24	OMIM:602398
HP:0011603	Congenital malformation of the great arteries	1718	DHCR24	ORPHA:35107
HP:0011603	Congenital malformation of the great arteries	6910	TBX5	ORPHA:392
HP:0011603	Congenital malformation of the great arteries	6910	TBX5	OMIM:142900
HP:0011603	Congenital malformation of the great arteries	8216	LZTR1	OMIM:616564
HP:0011603	Congenital malformation of the great arteries	8216	LZTR1	OMIM:605275
HP:0011603	Congenital malformation of the great arteries	2132	EXT2	OMIM:616682
HP:0011603	Congenital malformation of the great arteries	6016	RIT1	OMIM:615355
HP:0011603	Congenital malformation of the great arteries	51126	NAA20	OMIM:619717
HP:0011603	Congenital malformation of the great arteries	4625	MYH7	ORPHA:1880
HP:0011603	Congenital malformation of the great arteries	7021	TFAP2B	OMIM:169100
HP:0011603	Congenital malformation of the great arteries	7021	TFAP2B	ORPHA:46627
HP:0011603	Congenital malformation of the great arteries	7021	TFAP2B	OMIM:617035
HP:0011603	Congenital malformation of the great arteries	2720	GLB1	OMIM:230600
HP:0011603	Congenital malformation of the great arteries	1788	DNMT3A	ORPHA:404443
HP:0011603	Congenital malformation of the great arteries	1131	CHRM3	ORPHA:2970
HP:0011603	Congenital malformation of the great arteries	1131	CHRM3	OMIM:100100
HP:0011603	Congenital malformation of the great arteries	64220	STRA6	OMIM:601186
HP:0011603	Congenital malformation of the great arteries	9578	CDC42BPB	OMIM:619841
HP:0011603	Congenital malformation of the great arteries	8942	KYNU	OMIM:617661
HP:0011603	Congenital malformation of the great arteries	55790	CSGALNACT1	OMIM:618870
HP:0011603	Congenital malformation of the great arteries	65082	VPS33A	OMIM:617303
HP:0011603	Congenital malformation of the great arteries	65082	VPS33A	ORPHA:505248
HP:0011603	Congenital malformation of the great arteries	55690	PACS1	OMIM:615009
HP:0011603	Congenital malformation of the great arteries	55690	PACS1	ORPHA:329224
HP:0011603	Congenital malformation of the great arteries	2201	FBN2	OMIM:121050
HP:0011603	Congenital malformation of the great arteries	9200	HACD1	OMIM:619967
HP:0011603	Congenital malformation of the great arteries	23384	SPECC1L	ORPHA:1519
HP:0011603	Congenital malformation of the great arteries	3764	KCNJ8	ORPHA:1517
HP:0011603	Congenital malformation of the great arteries	10060	ABCC9	ORPHA:1517
HP:0011603	Congenital malformation of the great arteries	10060	ABCC9	OMIM:239850
HP:0011603	Congenital malformation of the great arteries	7086	TKT	ORPHA:488618
HP:0011603	Congenital malformation of the great arteries	7086	TKT	OMIM:617044
HP:0011603	Congenital malformation of the great arteries	55636	CHD7	ORPHA:138
HP:0011603	Congenital malformation of the great arteries	55636	CHD7	OMIM:214800
HP:0011603	Congenital malformation of the great arteries	9723	SEMA3E	ORPHA:138
HP:0011603	Congenital malformation of the great arteries	57231	SNX14	ORPHA:397709
HP:0011603	Congenital malformation of the great arteries	5189	PEX1	OMIM:214100
HP:0011603	Congenital malformation of the great arteries	2188	FANCF	OMIM:603467
HP:0011603	Congenital malformation of the great arteries	2188	FANCF	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	25885	POLR1A	OMIM:616462
HP:0011603	Congenital malformation of the great arteries	54880	BCOR	ORPHA:2712
HP:0011603	Congenital malformation of the great arteries	54880	BCOR	OMIM:300166
HP:0011603	Congenital malformation of the great arteries	4853	NOTCH2	OMIM:102500
HP:0011603	Congenital malformation of the great arteries	4853	NOTCH2	ORPHA:955
HP:0011603	Congenital malformation of the great arteries	2261	FGFR3	ORPHA:1860
HP:0011603	Congenital malformation of the great arteries	2261	FGFR3	ORPHA:93274
HP:0011603	Congenital malformation of the great arteries	2261	FGFR3	ORPHA:2363
HP:0011603	Congenital malformation of the great arteries	7994	KAT6A	ORPHA:457193
HP:0011603	Congenital malformation of the great arteries	7994	KAT6A	OMIM:616268
HP:0011603	Congenital malformation of the great arteries	55109	AGGF1	ORPHA:90308
HP:0011603	Congenital malformation of the great arteries	8726	EED	OMIM:617561
HP:0011603	Congenital malformation of the great arteries	203286	ANKS6	OMIM:615382
HP:0011603	Congenital malformation of the great arteries	22884	WDR37	OMIM:618652
HP:0011603	Congenital malformation of the great arteries	57178	ZMIZ1	OMIM:618659
HP:0011603	Congenital malformation of the great arteries	8550	MAPKAPK5	OMIM:619869
HP:0011603	Congenital malformation of the great arteries	5950	RBP4	OMIM:615147
HP:0011603	Congenital malformation of the great arteries	3782	KCNN3	OMIM:618658
HP:0011603	Congenital malformation of the great arteries	2296	FOXC1	OMIM:602482
HP:0011603	Congenital malformation of the great arteries	81794	ADAMTS10	OMIM:277600
HP:0011603	Congenital malformation of the great arteries	3476	IGBP1	ORPHA:52055
HP:0011603	Congenital malformation of the great arteries	3476	IGBP1	OMIM:300472
HP:0011603	Congenital malformation of the great arteries	51604	PIGT	OMIM:615398
HP:0011603	Congenital malformation of the great arteries	51604	PIGT	ORPHA:369837
HP:0011603	Congenital malformation of the great arteries	23126	POGZ	OMIM:616364
HP:0011603	Congenital malformation of the great arteries	54914	FOCAD	OMIM:619991
HP:0011603	Congenital malformation of the great arteries	213	ALB	OMIM:616000
HP:0011603	Congenital malformation of the great arteries	57167	SALL4	OMIM:147750
HP:0011603	Congenital malformation of the great arteries	3481	IGF2	OMIM:616489
HP:0011603	Congenital malformation of the great arteries	27125	AFF4	OMIM:616368
HP:0011603	Congenital malformation of the great arteries	27125	AFF4	ORPHA:444077
HP:0011603	Congenital malformation of the great arteries	57863	CADM3	OMIM:619519
HP:0011603	Congenital malformation of the great arteries	4629	MYH11	ORPHA:229
HP:0011603	Congenital malformation of the great arteries	4629	MYH11	OMIM:619351
HP:0011603	Congenital malformation of the great arteries	4629	MYH11	OMIM:132900
HP:0011603	Congenital malformation of the great arteries	4629	MYH11	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	5590	PRKCZ	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	2563	GABRD	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	23013	SPEN	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	8510	MMP23B	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	7798	LUZP1	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	6497	SKI	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	10630	PDPN	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	3339	HSPG2	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	10277	UBE4B	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	8514	KCNAB2	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	473	RERE	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	473	RERE	OMIM:616975
HP:0011603	Congenital malformation of the great arteries	63976	PRDM16	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	54897	CASZ1	ORPHA:1606
HP:0011603	Congenital malformation of the great arteries	286	ANK1	ORPHA:251066
HP:0011603	Congenital malformation of the great arteries	415	ARSL	ORPHA:79345
HP:0011603	Congenital malformation of the great arteries	1859	DYRK1A	ORPHA:464311
HP:0011603	Congenital malformation of the great arteries	4247	MGAT2	ORPHA:79329
HP:0011603	Congenital malformation of the great arteries	7750	ZMYM2	OMIM:619522
HP:0011603	Congenital malformation of the great arteries	9772	TMEM94	OMIM:618316
HP:0011603	Congenital malformation of the great arteries	79971	WLS	OMIM:619648
HP:0011603	Congenital malformation of the great arteries	51341	ZBTB7A	OMIM:619769
HP:0011603	Congenital malformation of the great arteries	9968	MED12	OMIM:301068
HP:0011603	Congenital malformation of the great arteries	23556	PIGN	OMIM:614080
HP:0011603	Congenital malformation of the great arteries	23556	PIGN	ORPHA:280633
HP:0011603	Congenital malformation of the great arteries	775	CACNA1C	OMIM:601005
HP:0011603	Congenital malformation of the great arteries	79989	IFT56	OMIM:619534
HP:0011603	Congenital malformation of the great arteries	285203	EOGT	OMIM:615297
HP:0011603	Congenital malformation of the great arteries	2303	FOXC2	ORPHA:33001
HP:0011603	Congenital malformation of the great arteries	2303	FOXC2	OMIM:153400
HP:0011603	Congenital malformation of the great arteries	79087	ALG12	ORPHA:79324
HP:0011603	Congenital malformation of the great arteries	79087	ALG12	OMIM:607143
HP:0011603	Congenital malformation of the great arteries	3845	KRAS	OMIM:600268
HP:0011603	Congenital malformation of the great arteries	3845	KRAS	OMIM:609942
HP:0011603	Congenital malformation of the great arteries	8295	TRRAP	OMIM:618454
HP:0011603	Congenital malformation of the great arteries	54903	MKS1	OMIM:249000
HP:0011603	Congenital malformation of the great arteries	51117	COQ4	OMIM:616276
HP:0011603	Congenital malformation of the great arteries	1523	CUX1	OMIM:618330
HP:0011603	Congenital malformation of the great arteries	27429	HTRA2	OMIM:617248
HP:0011603	Congenital malformation of the great arteries	7516	XRCC2	OMIM:617247
HP:0011603	Congenital malformation of the great arteries	7516	XRCC2	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	7046	TGFBR1	OMIM:609192
HP:0011603	Congenital malformation of the great arteries	7046	TGFBR1	ORPHA:60030
HP:0011603	Congenital malformation of the great arteries	7046	TGFBR1	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	5062	PAK2	OMIM:618458
HP:0011603	Congenital malformation of the great arteries	5062	PAK2	ORPHA:1571
HP:0011603	Congenital malformation of the great arteries	9949	AMMECR1	OMIM:300990
HP:0011603	Congenital malformation of the great arteries	9949	AMMECR1	ORPHA:86818
HP:0011603	Congenital malformation of the great arteries	2737	GLI3	ORPHA:672
HP:0011603	Congenital malformation of the great arteries	2737	GLI3	OMIM:146510
HP:0011603	Congenital malformation of the great arteries	4088	SMAD3	ORPHA:284984
HP:0011603	Congenital malformation of the great arteries	4088	SMAD3	OMIM:613795
HP:0011603	Congenital malformation of the great arteries	4088	SMAD3	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	6909	TBX2	OMIM:618223
HP:0011603	Congenital malformation of the great arteries	9759	HDAC4	OMIM:619797
HP:0011603	Congenital malformation of the great arteries	6885	MAP3K7	OMIM:617137
HP:0011603	Congenital malformation of the great arteries	10102	TSFM	OMIM:610505
HP:0011603	Congenital malformation of the great arteries	55315	SLC29A3	OMIM:602782
HP:0011603	Congenital malformation of the great arteries	7372	UMPS	ORPHA:30
HP:0011603	Congenital malformation of the great arteries	7707	ZNF148	OMIM:617260
HP:0011603	Congenital malformation of the great arteries	1387	CREBBP	ORPHA:353281
HP:0011603	Congenital malformation of the great arteries	1387	CREBBP	OMIM:180849
HP:0011603	Congenital malformation of the great arteries	1387	CREBBP	ORPHA:353277
HP:0011603	Congenital malformation of the great arteries	23395	LARS2	OMIM:617021
HP:0011603	Congenital malformation of the great arteries	2623	GATA1	OMIM:190685
HP:0011603	Congenital malformation of the great arteries	6651	SON	OMIM:617140
HP:0011603	Congenital malformation of the great arteries	2033	EP300	ORPHA:353284
HP:0011603	Congenital malformation of the great arteries	2033	EP300	OMIM:180849
HP:0011603	Congenital malformation of the great arteries	9126	SMC3	OMIM:610759
HP:0011603	Congenital malformation of the great arteries	79068	FTO	OMIM:612938
HP:0011603	Congenital malformation of the great arteries	8626	TP63	OMIM:106260
HP:0011603	Congenital malformation of the great arteries	170302	ARX	ORPHA:452
HP:0011603	Congenital malformation of the great arteries	4784	NFIX	OMIM:602535
HP:0011603	Congenital malformation of the great arteries	2530	FUT8	OMIM:618005
HP:0011603	Congenital malformation of the great arteries	3756	KCNH1	OMIM:135500
HP:0011603	Congenital malformation of the great arteries	8260	NAA10	OMIM:300855
HP:0011603	Congenital malformation of the great arteries	11274	USP18	OMIM:617397
HP:0011603	Congenital malformation of the great arteries	93166	PRDM6	OMIM:617039
HP:0011603	Congenital malformation of the great arteries	1108	CHD4	OMIM:617159
HP:0011603	Congenital malformation of the great arteries	1312	COMT	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	221037	JMJD1C	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	2812	GP1BB	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	6239	RREB1	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	7290	HIRA	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	9632	SEC24C	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	7353	UFD1	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	421	ARVCF	ORPHA:567
HP:0011603	Congenital malformation of the great arteries	22827	PUF60	ORPHA:508488
HP:0011603	Congenital malformation of the great arteries	7703	PCGF2	OMIM:618371
HP:0011603	Congenital malformation of the great arteries	27031	NPHP3	OMIM:267010
HP:0011603	Congenital malformation of the great arteries	27031	NPHP3	OMIM:208540
HP:0011603	Congenital malformation of the great arteries	9496	TBX4	ORPHA:261279
HP:0011603	Congenital malformation of the great arteries	1760	DMPK	ORPHA:589821
HP:0011603	Congenital malformation of the great arteries	8802	SUCLG1	ORPHA:17
HP:0011603	Congenital malformation of the great arteries	5277	PIGA	OMIM:300868
HP:0011603	Congenital malformation of the great arteries	4613	MYCN	OMIM:164280
HP:0011603	Congenital malformation of the great arteries	4613	MYCN	ORPHA:391641
HP:0011603	Congenital malformation of the great arteries	4990	SIX6	OMIM:206900
HP:0011603	Congenital malformation of the great arteries	6657	SOX2	OMIM:206900
HP:0011603	Congenital malformation of the great arteries	6657	SOX2	ORPHA:77298
HP:0011603	Congenital malformation of the great arteries	9321	TRIP11	ORPHA:166272
HP:0011603	Congenital malformation of the great arteries	29957	SLC25A24	ORPHA:2095
HP:0011603	Congenital malformation of the great arteries	29957	SLC25A24	OMIM:612289
HP:0011603	Congenital malformation of the great arteries	54809	SAMD9	OMIM:617053
HP:0011603	Congenital malformation of the great arteries	57003	CCDC47	OMIM:618268
HP:0011603	Congenital malformation of the great arteries	57061	HYMAI	ORPHA:96191
HP:0011603	Congenital malformation of the great arteries	5325	PLAGL1	ORPHA:96191
HP:0011603	Congenital malformation of the great arteries	10526	IPO8	OMIM:619472
HP:0011603	Congenital malformation of the great arteries	10526	IPO8	ORPHA:60030
HP:0011603	Congenital malformation of the great arteries	64840	PORCN	ORPHA:2092
HP:0011603	Congenital malformation of the great arteries	348180	CTU2	OMIM:618142
HP:0011603	Congenital malformation of the great arteries	145173	B3GLCT	OMIM:261540
HP:0011603	Congenital malformation of the great arteries	145173	B3GLCT	ORPHA:709
HP:0011603	Congenital malformation of the great arteries	26005	C2CD3	ORPHA:434179
HP:0011603	Congenital malformation of the great arteries	26005	C2CD3	OMIM:615948
HP:0011603	Congenital malformation of the great arteries	3248	HPGD	OMIM:259100
HP:0011603	Congenital malformation of the great arteries	11198	SUPT16H	OMIM:619480
HP:0011603	Congenital malformation of the great arteries	84172	POLR1B	ORPHA:861
HP:0011603	Congenital malformation of the great arteries	9533	POLR1C	ORPHA:861
HP:0011603	Congenital malformation of the great arteries	51082	POLR1D	ORPHA:861
HP:0011603	Congenital malformation of the great arteries	6949	TCOF1	ORPHA:861
HP:0011603	Congenital malformation of the great arteries	7204	TRIO	OMIM:617061
HP:0011603	Congenital malformation of the great arteries	374879	ZNF699	OMIM:619488
HP:0011603	Congenital malformation of the great arteries	4841	NONO	OMIM:300967
HP:0011603	Congenital malformation of the great arteries	4841	NONO	ORPHA:466791
HP:0011603	Congenital malformation of the great arteries	8239	USP9X	OMIM:300968
HP:0011603	Congenital malformation of the great arteries	8239	USP9X	ORPHA:480880
HP:0011603	Congenital malformation of the great arteries	28952	CCDC22	OMIM:300963
HP:0011603	Congenital malformation of the great arteries	6299	SALL1	ORPHA:857
HP:0011603	Congenital malformation of the great arteries	51339	DACT1	ORPHA:857
HP:0011603	Congenital malformation of the great arteries	118924	FRA10AC1	OMIM:620113
HP:0011603	Congenital malformation of the great arteries	745	MYRF	OMIM:618280
HP:0011603	Congenital malformation of the great arteries	55252	ASXL2	OMIM:617190
HP:0011603	Congenital malformation of the great arteries	23387	SIK3	OMIM:618162
HP:0011603	Congenital malformation of the great arteries	6748	SSR4	ORPHA:370927
HP:0011603	Congenital malformation of the great arteries	2177	FANCD2	OMIM:227646
HP:0011603	Congenital malformation of the great arteries	2177	FANCD2	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	84231	TRAF7	OMIM:618164
HP:0011603	Congenital malformation of the great arteries	89970	RSPRY1	ORPHA:457395
HP:0011603	Congenital malformation of the great arteries	284058	KANSL1	OMIM:610443
HP:0011603	Congenital malformation of the great arteries	5557	PRIM1	OMIM:620005
HP:0011603	Congenital malformation of the great arteries	59	ACTA2	OMIM:613834
HP:0011603	Congenital malformation of the great arteries	59	ACTA2	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	23522	KAT6B	ORPHA:3047
HP:0011603	Congenital malformation of the great arteries	55901	THSD1	OMIM:620244
HP:0011603	Congenital malformation of the great arteries	2316	FLNA	ORPHA:555877
HP:0011603	Congenital malformation of the great arteries	2316	FLNA	ORPHA:99811
HP:0011603	Congenital malformation of the great arteries	2316	FLNA	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	2316	FLNA	OMIM:300049
HP:0011603	Congenital malformation of the great arteries	2316	FLNA	OMIM:300048
HP:0011603	Congenital malformation of the great arteries	51626	DYNC2LI1	OMIM:617088
HP:0011603	Congenital malformation of the great arteries	27161	AGO2	OMIM:619149
HP:0011603	Congenital malformation of the great arteries	9652	SKIC3	ORPHA:84064
HP:0011603	Congenital malformation of the great arteries	6499	SKIC2	ORPHA:84064
HP:0011603	Congenital malformation of the great arteries	2294	FOXF1	OMIM:265380
HP:0011603	Congenital malformation of the great arteries	2294	FOXF1	ORPHA:210122
HP:0011603	Congenital malformation of the great arteries	10262	SF3B4	OMIM:154400
HP:0011603	Congenital malformation of the great arteries	55503	TRPV6	OMIM:618188
HP:0011603	Congenital malformation of the great arteries	57539	WDR35	OMIM:613610
HP:0011603	Congenital malformation of the great arteries	10992	SF3B2	OMIM:164210
HP:0011603	Congenital malformation of the great arteries	8496	PPFIBP1	OMIM:620024
HP:0011603	Congenital malformation of the great arteries	9839	ZEB2	OMIM:235730
HP:0011603	Congenital malformation of the great arteries	9839	ZEB2	ORPHA:261552
HP:0011603	Congenital malformation of the great arteries	64324	NSD1	ORPHA:821
HP:0011603	Congenital malformation of the great arteries	64324	NSD1	OMIM:117550
HP:0011603	Congenital malformation of the great arteries	29072	SETD2	ORPHA:821
HP:0011603	Congenital malformation of the great arteries	10297	APC2	ORPHA:821
HP:0011603	Congenital malformation of the great arteries	51506	UFC1	OMIM:618076
HP:0011603	Congenital malformation of the great arteries	4010	LMX1B	ORPHA:495818
HP:0011603	Congenital malformation of the great arteries	6812	STXBP1	ORPHA:495818
HP:0011603	Congenital malformation of the great arteries	55249	YY1AP1	ORPHA:79094
HP:0011603	Congenital malformation of the great arteries	55788	LMBRD1	OMIM:277380
HP:0011603	Congenital malformation of the great arteries	1717	DHCR7	ORPHA:818
HP:0011603	Congenital malformation of the great arteries	1717	DHCR7	OMIM:270400
HP:0011603	Congenital malformation of the great arteries	10225	CD96	OMIM:211750
HP:0011603	Congenital malformation of the great arteries	6595	SMARCA2	OMIM:619293
HP:0011603	Congenital malformation of the great arteries	57492	ARID1B	OMIM:135900
HP:0011603	Congenital malformation of the great arteries	57492	ARID1B	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	1889	ECE1	OMIM:613870
HP:0011603	Congenital malformation of the great arteries	92579	G6PC3	OMIM:612541
HP:0011603	Congenital malformation of the great arteries	672	BRCA1	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	10459	MAD2L2	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	29089	UBE2T	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	675	BRCA2	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	55120	FANCL	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	2175	FANCA	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	2176	FANCC	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	2178	FANCE	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	2189	FANCG	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	5888	RAD51	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	5889	RAD51C	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	55159	RFWD3	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	83990	BRIP1	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	57697	FANCM	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	79728	PALB2	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	84464	SLX4	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	2072	ERCC4	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	55215	FANCI	ORPHA:84
HP:0011603	Congenital malformation of the great arteries	6597	SMARCA4	OMIM:614609
HP:0011603	Congenital malformation of the great arteries	6597	SMARCA4	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	132158	GLYCTK	OMIM:220120
HP:0011603	Congenital malformation of the great arteries	55148	UBR7	OMIM:619189
HP:0011603	Congenital malformation of the great arteries	51021	MRPS16	OMIM:610498
HP:0011603	Congenital malformation of the great arteries	5728	PTEN	ORPHA:79076
HP:0011603	Congenital malformation of the great arteries	657	BMPR1A	ORPHA:79076
HP:0011603	Congenital malformation of the great arteries	79053	ALG8	OMIM:608104
HP:0011603	Congenital malformation of the great arteries	5826	ABCD4	OMIM:614857
HP:0011603	Congenital malformation of the great arteries	375	ARF1	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	4131	MAP1B	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	23327	NEDD4L	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	160418	TMTC3	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	10564	ARFGEF2	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	55780	ERMARD	ORPHA:98892
HP:0011603	Congenital malformation of the great arteries	6135	RPL11	OMIM:612562
HP:0011603	Congenital malformation of the great arteries	6125	RPL5	OMIM:612561
HP:0011603	Congenital malformation of the great arteries	6804	STX1A	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	7461	CLIP2	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	84277	DNAJC30	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	8468	FKBP6	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	5982	RFC2	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	2969	GTF2I	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	3984	LIMK1	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	9569	GTF2IRD1	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	155382	VPS37D	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	155368	METTL27	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	114049	BUD23	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	7458	EIF4H	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	84163	GTF2IRD2	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	9275	BCL7B	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	26608	TBL2	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	653361	NCF1	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	135886	TMEM270	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	51085	MLXIPL	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	9031	BAZ1B	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	2006	ELN	ORPHA:904
HP:0011603	Congenital malformation of the great arteries	2006	ELN	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	54499	TMCO1	OMIM:213980
HP:0011603	Congenital malformation of the great arteries	23137	SMC5	OMIM:620185
HP:0011603	Congenital malformation of the great arteries	79228	THOC6	ORPHA:363444
HP:0011603	Congenital malformation of the great arteries	79228	THOC6	OMIM:613680
HP:0011603	Congenital malformation of the great arteries	2200	FBN1	OMIM:608328
HP:0011603	Congenital malformation of the great arteries	2200	FBN1	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	4094	MAF	ORPHA:1272
HP:0011603	Congenital malformation of the great arteries	4089	SMAD4	OMIM:139210
HP:0011603	Congenital malformation of the great arteries	4089	SMAD4	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	2697	GJA1	ORPHA:2248
HP:0011603	Congenital malformation of the great arteries	2263	FGFR2	ORPHA:2363
HP:0011603	Congenital malformation of the great arteries	2255	FGF10	ORPHA:2363
HP:0011603	Congenital malformation of the great arteries	6231	RPS26	OMIM:613309
HP:0011603	Congenital malformation of the great arteries	51322	WAC	ORPHA:284169
HP:0011603	Congenital malformation of the great arteries	8813	DPM1	OMIM:608799
HP:0011603	Congenital malformation of the great arteries	2146	EZH2	OMIM:277590
HP:0011603	Congenital malformation of the great arteries	7048	TGFBR2	OMIM:610168
HP:0011603	Congenital malformation of the great arteries	7048	TGFBR2	ORPHA:60030
HP:0011603	Congenital malformation of the great arteries	7048	TGFBR2	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	5824	PEX19	OMIM:614886
HP:0011603	Congenital malformation of the great arteries	8195	MKKS	ORPHA:2473
HP:0011603	Congenital malformation of the great arteries	157570	ESCO2	OMIM:268300
HP:0011603	Congenital malformation of the great arteries	7319	UBE2A	ORPHA:163956
HP:0011603	Congenital malformation of the great arteries	10664	CTCF	OMIM:615502
HP:0011603	Congenital malformation of the great arteries	10664	CTCF	ORPHA:363611
HP:0011603	Congenital malformation of the great arteries	6888	TALDO1	OMIM:606003
HP:0011603	Congenital malformation of the great arteries	10735	STAG2	OMIM:301043
HP:0011603	Congenital malformation of the great arteries	11020	IFT27	OMIM:615996
HP:0011603	Congenital malformation of the great arteries	5648	MASP1	OMIM:257920
HP:0011603	Congenital malformation of the great arteries	85358	SHANK3	OMIM:606232
HP:0011603	Congenital malformation of the great arteries	1837	DTNA	OMIM:604169
HP:0011603	Congenital malformation of the great arteries	57465	TBC1D24	OMIM:220500
HP:0011603	Congenital malformation of the great arteries	4854	NOTCH3	OMIM:130720
HP:0011603	Congenital malformation of the great arteries	113179	ADAT3	ORPHA:363528
HP:0011603	Congenital malformation of the great arteries	55784	MCTP2	ORPHA:1596
HP:0011603	Congenital malformation of the great arteries	998	CDC42	OMIM:616737
HP:0011603	Congenital malformation of the great arteries	998	CDC42	ORPHA:487796
HP:0011603	Congenital malformation of the great arteries	55033	FKBP14	OMIM:614557
HP:0011603	Congenital malformation of the great arteries	4297	KMT2A	OMIM:605130
HP:0011603	Congenital malformation of the great arteries	388753	COA6	OMIM:616501
HP:0011603	Congenital malformation of the great arteries	6598	SMARCB1	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	6659	SOX4	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	8289	ARID1A	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	5977	DPF2	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	6601	SMARCC2	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	6602	SMARCD1	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	196528	ARID2	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	6605	SMARCE1	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	6664	SOX11	ORPHA:1465
HP:0011603	Congenital malformation of the great arteries	51008	ASCC1	OMIM:616867
HP:0011603	Congenital malformation of the great arteries	9325	TRIP4	OMIM:616866
HP:0011603	Congenital malformation of the great arteries	57511	COG6	OMIM:614576
HP:0011603	Congenital malformation of the great arteries	80781	COL18A1	ORPHA:1571
HP:0011603	Congenital malformation of the great arteries	80781	COL18A1	OMIM:267750
HP:0011603	Congenital malformation of the great arteries	6638	SNRPN	ORPHA:177907
HP:0011603	Congenital malformation of the great arteries	51057	WDPCP	ORPHA:1338
HP:0011603	Congenital malformation of the great arteries	59336	PRDM13	OMIM:619909
HP:0011603	Congenital malformation of the great arteries	60	ACTB	OMIM:243310
HP:0011603	Congenital malformation of the great arteries	6628	SNRPB	OMIM:117650
HP:0011603	Congenital malformation of the great arteries	23630	KCNE5	ORPHA:86818
HP:0011603	Congenital malformation of the great arteries	2182	ACSL4	ORPHA:86818
HP:0011603	Congenital malformation of the great arteries	1857	DVL3	OMIM:616894
HP:0011603	Congenital malformation of the great arteries	5500	PPP1CB	OMIM:617506
HP:0011603	Congenital malformation of the great arteries	7291	TWIST1	OMIM:617746
HP:0011603	Congenital malformation of the great arteries	100506658	OCLN	OMIM:251290
HP:0011603	Congenital malformation of the great arteries	93649	MYOCD	OMIM:618719
HP:0011603	Congenital malformation of the great arteries	2767	GNA11	ORPHA:1556
HP:0011603	Congenital malformation of the great arteries	151188	ARL6IP6	ORPHA:1556
HP:0011603	Congenital malformation of the great arteries	139285	AMER1	OMIM:300373
HP:0011603	Congenital malformation of the great arteries	5331	PLCB3	OMIM:618961
HP:0011603	Congenital malformation of the great arteries	153241	CEP120	OMIM:616300
HP:0011603	Congenital malformation of the great arteries	5879	RAC1	OMIM:617751
HP:0011603	Congenital malformation of the great arteries	5879	RAC1	ORPHA:500159
HP:0011603	Congenital malformation of the great arteries	5116	PCNT	ORPHA:2637
HP:0011603	Congenital malformation of the great arteries	5718	PSMD12	OMIM:617516
HP:0011603	Congenital malformation of the great arteries	55191	NADSYN1	OMIM:618845
HP:0011603	Congenital malformation of the great arteries	9757	KMT2B	OMIM:619934
HP:0011603	Congenital malformation of the great arteries	9939	RBM8A	OMIM:274000
HP:0011603	Congenital malformation of the great arteries	4281	MID1	ORPHA:2745
HP:0011603	Congenital malformation of the great arteries	84148	KAT8	OMIM:618974
HP:0011603	Congenital malformation of the great arteries	4015	LOX	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	7043	TGFB3	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	7042	TGFB2	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	5592	PRKG1	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	2301	FOXE3	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	4144	MAT2A	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	23493	HEY2	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	8076	MFAP5	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	4638	MYLK	ORPHA:91387
HP:0011603	Congenital malformation of the great arteries	5604	MAP2K1	OMIM:163950
HP:0011603	Congenital malformation of the great arteries	5781	PTPN11	OMIM:163950
HP:0011603	Congenital malformation of the great arteries	673	BRAF	OMIM:163950
HP:0011603	Congenital malformation of the great arteries	54567	DLL4	OMIM:616589
HP:0011603	Congenital malformation of the great arteries	54916	TMEM260	OMIM:617478
HP:0011603	Congenital malformation of the great arteries	284086	NEK8	OMIM:615415
HP:0011603	Congenital malformation of the great arteries	613	BCR	ORPHA:261330
HP:0011603	Congenital malformation of the great arteries	1399	CRKL	ORPHA:261330
HP:0011603	Congenital malformation of the great arteries	5594	MAPK1	ORPHA:261330
HP:0011603	Congenital malformation of the great arteries	3708	ITPR1	OMIM:206700
HP:0011603	Congenital malformation of the great arteries	7490	WT1	OMIM:608978
HP:0011603	Congenital malformation of the great arteries	7490	WT1	ORPHA:3097
HP:0011603	Congenital malformation of the great arteries	137814	NKX2-6	ORPHA:3384
HP:0011603	Congenital malformation of the great arteries	137814	NKX2-6	OMIM:217095
HP:0011603	Congenital malformation of the great arteries	23129	PLXND1	ORPHA:3384
HP:0011603	Congenital malformation of the great arteries	2657	GDF1	OMIM:208530
HP:0011603	Congenital malformation of the great arteries	2657	GDF1	OMIM:613854
HP:0011603	Congenital malformation of the great arteries	650	BMP2	OMIM:617877
HP:0011603	Congenital malformation of the great arteries	9487	PIGL	OMIM:280000
HP:0011603	Congenital malformation of the great arteries	9487	PIGL	ORPHA:3474
HP:0011603	Congenital malformation of the great arteries	4000	LMNA	ORPHA:1662
HP:0011603	Congenital malformation of the great arteries	10269	ZMPSTE24	ORPHA:1662
HP:0011603	Congenital malformation of the great arteries	2627	GATA6	ORPHA:2255
HP:0011603	Congenital malformation of the great arteries	2627	GATA6	OMIM:600001
HP:0011603	Congenital malformation of the great arteries	2627	GATA6	OMIM:217095
HP:0011603	Congenital malformation of the great arteries	490	ATP2B1	OMIM:619910
HP:0011603	Congenital malformation of the great arteries	23389	MED13L	OMIM:616789
HP:0011603	Congenital malformation of the great arteries	2218	FKTN	OMIM:253800
HP:0011603	Congenital malformation of the great arteries	6899	TBX1	ORPHA:1727
HP:0011603	Congenital malformation of the great arteries	6899	TBX1	OMIM:217095
HP:0011603	Congenital malformation of the great arteries	118856	MMP21	OMIM:616749
HP:0011603	Congenital malformation of the great arteries	2626	GATA4	ORPHA:251071
HP:0011603	Congenital malformation of the great arteries	25981	DNAH1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	115948	ODAD3	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	54768	HYDIN	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	352909	DNAAF3	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	27148	STK36	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	51314	NME8	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	92749	DRC1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	54970	TTC12	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	152110	NEK10	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	8481	OFD1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	2302	FOXJ1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	221421	RSPH9	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	85478	CCDC65	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	55036	CCDC40	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	51364	ZMYND10	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	64446	DNAI2	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	6674	SPAG1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	83544	DNAL1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	89765	RSPH1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	83538	ODAD4	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	200373	CFAP221	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	374407	DNAJB13	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	55172	DNAAF2	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	161582	DNAAF4	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	2622	GAS8	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	23639	DNAAF11	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	27019	DNAI1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	345895	RSPH4A	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	54919	DNAAF5	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	6103	RPGR	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	388389	CCDC103	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	93233	ODAD1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	55130	ODAD2	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	1767	DNAH5	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	83861	RSPH3	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	345643	MCIDAS	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	56683	CFAP298	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	79925	SPEF2	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	10309	CCNO	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	115399	LRRC56	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	139212	DNAAF6	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	123872	DNAAF1	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	85016	CFAP300	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	339829	CCDC39	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	8701	DNAH11	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	246176	GAS2L2	ORPHA:244
HP:0011603	Congenital malformation of the great arteries	2187	FANCB	OMIM:314390
HP:0011603	Congenital malformation of the great arteries	51715	RAB23	OMIM:201000
HP:0011603	Congenital malformation of the great arteries	54870	QRICH1	OMIM:617982
HP:0011603	Congenital malformation of the great arteries	2702	GJA5	OMIM:612474
HP:0011603	Congenital malformation of the great arteries	2703	GJA8	OMIM:612474
HP:0011603	Congenital malformation of the great arteries	1954	MEGF8	OMIM:614976
HP:0011603	Congenital malformation of the great arteries	220136	CFAP53	OMIM:614779
HP:0011603	Congenital malformation of the great arteries	2783	GNB2	OMIM:619503
HP:0011603	Congenital malformation of the great arteries	2719	GPC3	OMIM:312870
HP:0011603	Congenital malformation of the great arteries	2239	GPC4	OMIM:312870
HP:0011603	Congenital malformation of the great arteries	55997	CFC1	OMIM:605376
HP:0011603	Congenital malformation of the great arteries	1482	NKX2-5	OMIM:217095
HP:0011603	Congenital malformation of the great arteries	26227	PHGDH	OMIM:256520
HP:0011603	Congenital malformation of the great arteries	9897	WASHC5	OMIM:220210
HP:0011603	Congenital malformation of the great arteries	23007	PLCH1	OMIM:619895
HP:0011603	Congenital malformation of the great arteries	140628	GATA5	OMIM:617912
HP:0011603	Congenital malformation of the great arteries	526	ATP6V1B2	ORPHA:79500
HP:0011603	Congenital malformation of the great arteries	9451	EIF2AK3	ORPHA:1667
HP:0011603	Congenital malformation of the great arteries	4851	NOTCH1	OMIM:109730
HP:0011603	Congenital malformation of the great arteries	55593	OTUD5	OMIM:301056
HP:0011603	Congenital malformation of the great arteries	4313	MMP2	ORPHA:371428
HP:0011603	Congenital malformation of the great arteries	4323	MMP14	ORPHA:371428
HP:0011603	Congenital malformation of the great arteries	10743	RAI1	ORPHA:477817
HP:0011603	Congenital malformation of the great arteries	285590	SH3PXD2B	OMIM:249420
HP:0011603	Congenital malformation of the great arteries	5053	PAH	ORPHA:2209
HP:0011603	Congenital malformation of the great arteries	1770	DNAH9	OMIM:618300
HP:0011603	Congenital malformation of the great arteries	8854	ALDH1A2	OMIM:620025
HP:0011603	Congenital malformation of the great arteries	168507	PKD1L1	OMIM:617205
HP:0011603	Congenital malformation of the great arteries	2186	BPTF	ORPHA:529962
HP:0011603	Congenital malformation of the great arteries	808	CALM3	OMIM:618782
HP:0011603	Congenital malformation of the great arteries	54892	NCAPG2	OMIM:618460
HP:0011603	Congenital malformation of the great arteries	26191	PTPN22	ORPHA:397
HP:0011603	Congenital malformation of the great arteries	3106	HLA-B	ORPHA:397
HP:0011603	Congenital malformation of the great arteries	3123	HLA-DRB1	ORPHA:397
HP:0011603	Congenital malformation of the great arteries	8974	P4HA2	ORPHA:397
HP:0011603	Congenital malformation of the great arteries	7547	ZIC3	OMIM:306955
HP:0011603	Congenital malformation of the great arteries	93	ACVR2B	OMIM:613751
HP:0011603	Congenital malformation of the great arteries	4087	SMAD2	OMIM:619657
HP:0011603	Congenital malformation of the great arteries	100128908	CIROP	OMIM:619702
HP:0011603	Congenital malformation of the great arteries	56006	SMG9	OMIM:619995
HP:0011603	Congenital malformation of the great arteries	4838	NODAL	OMIM:270100
HP:0011603	Congenital malformation of the great arteries	58499	ZNF462	OMIM:618619
HP:0011604	Aortopulmonary window	8854	ALDH1A2	OMIM:620025
HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	168507	PKD1L1	OMIM:617205
HP:0011615	Abnormal pulmonary situs morphology	25981	DNAH1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	115948	ODAD3	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	54768	HYDIN	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	352909	DNAAF3	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	27148	STK36	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	51314	NME8	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	92749	DRC1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	54970	TTC12	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	152110	NEK10	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	8481	OFD1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	2302	FOXJ1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	221421	RSPH9	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	85478	CCDC65	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	55036	CCDC40	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	51364	ZMYND10	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	64446	DNAI2	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	6674	SPAG1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	83544	DNAL1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	89765	RSPH1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	83538	ODAD4	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	200373	CFAP221	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	374407	DNAJB13	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	55172	DNAAF2	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	161582	DNAAF4	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	2622	GAS8	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	23639	DNAAF11	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	27019	DNAI1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	345895	RSPH4A	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	54919	DNAAF5	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	6103	RPGR	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	388389	CCDC103	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	93233	ODAD1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	55130	ODAD2	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	1767	DNAH5	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	83861	RSPH3	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	345643	MCIDAS	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	56683	CFAP298	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	79925	SPEF2	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	10309	CCNO	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	115399	LRRC56	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	139212	DNAAF6	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	123872	DNAAF1	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	85016	CFAP300	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	339829	CCDC39	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	8701	DNAH11	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	1770	DNAH9	ORPHA:244
HP:0011615	Abnormal pulmonary situs morphology	246176	GAS2L2	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	25981	DNAH1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	115948	ODAD3	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	54768	HYDIN	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	352909	DNAAF3	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	27148	STK36	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	51314	NME8	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	92749	DRC1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	54970	TTC12	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	152110	NEK10	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	8481	OFD1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	2302	FOXJ1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	221421	RSPH9	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	85478	CCDC65	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	55036	CCDC40	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	51364	ZMYND10	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	64446	DNAI2	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	6674	SPAG1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	83544	DNAL1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	89765	RSPH1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	83538	ODAD4	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	200373	CFAP221	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	374407	DNAJB13	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	55172	DNAAF2	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	161582	DNAAF4	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	2622	GAS8	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	23639	DNAAF11	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	27019	DNAI1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	345895	RSPH4A	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	54919	DNAAF5	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	6103	RPGR	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	388389	CCDC103	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	93233	ODAD1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	55130	ODAD2	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	1767	DNAH5	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	83861	RSPH3	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	345643	MCIDAS	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	56683	CFAP298	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	79925	SPEF2	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	10309	CCNO	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	115399	LRRC56	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	139212	DNAAF6	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	123872	DNAAF1	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	85016	CFAP300	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	339829	CCDC39	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	8701	DNAH11	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	1770	DNAH9	ORPHA:244
HP:0011617	Pulmonary situs ambiguus	246176	GAS2L2	ORPHA:244
HP:0001401	Intrahepatic biliary dysgenesis	5828	PEX2	OMIM:614866
HP:0001401	Intrahepatic biliary dysgenesis	5830	PEX5	OMIM:214110
HP:0001401	Intrahepatic biliary dysgenesis	5189	PEX1	OMIM:214100
HP:0001403	Macrovesicular hepatic steatosis	5428	POLG	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	1890	TYMP	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	3980	LIG3	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	50484	RRM2B	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	1376	CPT2	OMIM:608836
HP:0001403	Macrovesicular hepatic steatosis	1376	CPT2	OMIM:600649
HP:0001403	Macrovesicular hepatic steatosis	10165	SLC25A13	OMIM:605814
HP:0001403	Macrovesicular hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001403	Macrovesicular hepatic steatosis	51103	NDUFAF1	OMIM:618234
HP:0001403	Macrovesicular hepatic steatosis	10651	MTX2	OMIM:619127
HP:0001403	Macrovesicular hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001403	Macrovesicular hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001403	Macrovesicular hepatic steatosis	125988	MICOS13	OMIM:618329
HP:0001403	Macrovesicular hepatic steatosis	65082	VPS33A	OMIM:617303
HP:0001403	Macrovesicular hepatic steatosis	1794	DOCK2	OMIM:616433
HP:0001403	Macrovesicular hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001403	Macrovesicular hepatic steatosis	124454	EARS2	OMIM:614924
HP:0001403	Macrovesicular hepatic steatosis	1581	CYP7A1	ORPHA:209902
HP:0001404	Hepatocellular necrosis	4358	MPV17	OMIM:256810
HP:0001404	Hepatocellular necrosis	37	ACADVL	OMIM:201475
HP:0001404	Hepatocellular necrosis	374354	NHLRC2	OMIM:618278
HP:0001404	Hepatocellular necrosis	1716	DGUOK	OMIM:251880
HP:0001405	Periportal fibrosis	79796	ALG9	ORPHA:79328
HP:0001405	Periportal fibrosis	79796	ALG9	OMIM:263210
HP:0001405	Periportal fibrosis	123264	SLC51B	OMIM:619481
HP:0001405	Periportal fibrosis	203286	ANKS6	OMIM:615382
HP:0001405	Periportal fibrosis	37	ACADVL	OMIM:201475
HP:0001405	Periportal fibrosis	200931	SLC51A	OMIM:619484
HP:0001405	Periportal fibrosis	5314	PKHD1	OMIM:263200
HP:0001405	Periportal fibrosis	5314	PKHD1	ORPHA:731
HP:0001405	Periportal fibrosis	5314	PKHD1	ORPHA:53035
HP:0001405	Periportal fibrosis	3988	LIPA	OMIM:278000
HP:0001405	Periportal fibrosis	617	BCS1L	OMIM:124000
HP:0001405	Periportal fibrosis	199221	DZIP1L	ORPHA:731
HP:0001405	Periportal fibrosis	1716	DGUOK	OMIM:251880
HP:0001406	Intrahepatic cholestasis	2271	FH	OMIM:606812
HP:0001406	Intrahepatic cholestasis	80270	HSD3B7	OMIM:607765
HP:0001406	Intrahepatic cholestasis	3376	IARS1	OMIM:617093
HP:0001406	Intrahepatic cholestasis	164656	TMPRSS6	ORPHA:209981
HP:0001406	Intrahepatic cholestasis	8647	ABCB11	OMIM:601847
HP:0001406	Intrahepatic cholestasis	8647	ABCB11	OMIM:605479
HP:0001406	Intrahepatic cholestasis	6309	SC5D	ORPHA:46059
HP:0001406	Intrahepatic cholestasis	6309	SC5D	OMIM:607330
HP:0001406	Intrahepatic cholestasis	54914	FOCAD	OMIM:619991
HP:0001406	Intrahepatic cholestasis	6718	AKR1D1	OMIM:235555
HP:0001406	Intrahepatic cholestasis	9414	TJP2	OMIM:615878
HP:0001406	Intrahepatic cholestasis	5236	PGM1	OMIM:614921
HP:0001406	Intrahepatic cholestasis	5195	PEX14	OMIM:614887
HP:0001406	Intrahepatic cholestasis	9420	CYP7B1	OMIM:613812
HP:0001406	Intrahepatic cholestasis	23600	AMACR	OMIM:214950
HP:0001406	Intrahepatic cholestasis	5314	PKHD1	ORPHA:53035
HP:0001406	Intrahepatic cholestasis	10165	SLC25A13	OMIM:605814
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	OMIM:602347
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	ORPHA:69663
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	OMIM:614972
HP:0001406	Intrahepatic cholestasis	197131	UBR1	OMIM:243800
HP:0001406	Intrahepatic cholestasis	55610	VPS50	OMIM:619685
HP:0001406	Intrahepatic cholestasis	6514	SLC2A2	OMIM:227810
HP:0001406	Intrahepatic cholestasis	162	AP1B1	ORPHA:171851
HP:0001406	Intrahepatic cholestasis	1174	AP1S1	ORPHA:171851
HP:0001406	Intrahepatic cholestasis	200931	SLC51A	OMIM:619484
HP:0001406	Intrahepatic cholestasis	84936	ZFYVE19	OMIM:619849
HP:0001406	Intrahepatic cholestasis	5205	ATP8B1	OMIM:243300
HP:0001406	Intrahepatic cholestasis	5205	ATP8B1	OMIM:211600
HP:0001406	Intrahepatic cholestasis	427	ASAH1	ORPHA:333
HP:0001407	Hepatic cysts	51726	DNAJB11	OMIM:618061
HP:0001407	Hepatic cysts	51726	DNAJB11	ORPHA:730
HP:0001407	Hepatic cysts	23193	GANAB	ORPHA:730
HP:0001407	Hepatic cysts	23193	GANAB	OMIM:600666
HP:0001407	Hepatic cysts	5310	PKD1	ORPHA:730
HP:0001407	Hepatic cysts	5310	PKD1	OMIM:173900
HP:0001407	Hepatic cysts	5311	PKD2	ORPHA:730
HP:0001407	Hepatic cysts	5311	PKD2	OMIM:613095
HP:0001407	Hepatic cysts	29880	ALG5	ORPHA:730
HP:0001407	Hepatic cysts	9742	IFT140	ORPHA:730
HP:0001407	Hepatic cysts	79796	ALG9	ORPHA:730
HP:0001407	Hepatic cysts	79796	ALG9	ORPHA:79328
HP:0001407	Hepatic cysts	80114	BICC1	ORPHA:730
HP:0001407	Hepatic cysts	5314	PKHD1	OMIM:263200
HP:0001407	Hepatic cysts	57545	CC2D2A	OMIM:612284
HP:0001407	Hepatic cysts	4041	LRP5	OMIM:617875
HP:0001407	Hepatic cysts	79053	ALG8	OMIM:617874
HP:0001407	Hepatic cysts	57728	WDR19	OMIM:616307
HP:0001407	Hepatic cysts	57728	WDR19	OMIM:614377
HP:0001407	Hepatic cysts	3458	IFNG	ORPHA:805
HP:0001407	Hepatic cysts	7248	TSC1	ORPHA:805
HP:0001407	Hepatic cysts	7249	TSC2	ORPHA:805
HP:0001407	Hepatic cysts	284086	NEK8	OMIM:615415
HP:0001407	Hepatic cysts	55764	IFT122	OMIM:218330
HP:0001407	Hepatic cysts	79809	TTC21B	OMIM:613819
HP:0001407	Hepatic cysts	11231	SEC63	OMIM:617004
HP:0001407	Hepatic cysts	27031	NPHP3	OMIM:208540
HP:0001407	Hepatic cysts	2137	EXTL3	OMIM:617425
HP:0001407	Hepatic cysts	8481	OFD1	OMIM:311200
HP:0001407	Hepatic cysts	3716	JAK1	OMIM:618999
HP:0001408	Bile duct proliferation	9968	MED12	OMIM:301068
HP:0001408	Bile duct proliferation	9076	CLDN1	OMIM:607626
HP:0001408	Bile duct proliferation	51473	DCDC2	OMIM:617394
HP:0001408	Bile duct proliferation	51473	DCDC2	OMIM:616217
HP:0001408	Bile duct proliferation	79989	IFT56	OMIM:619534
HP:0001408	Bile duct proliferation	57545	CC2D2A	OMIM:612284
HP:0001408	Bile duct proliferation	125988	MICOS13	OMIM:618329
HP:0001408	Bile duct proliferation	80184	CEP290	OMIM:611134
HP:0001408	Bile duct proliferation	57539	WDR35	OMIM:613610
HP:0001408	Bile duct proliferation	3295	HSD17B4	OMIM:261515
HP:0001408	Bile duct proliferation	91147	TMEM67	OMIM:610688
HP:0001408	Bile duct proliferation	91147	TMEM67	OMIM:607361
HP:0001408	Bile duct proliferation	9420	CYP7B1	OMIM:613812
HP:0001408	Bile duct proliferation	9420	CYP7B1	ORPHA:79302
HP:0001408	Bile duct proliferation	10056	FARSB	OMIM:613658
HP:0001408	Bile duct proliferation	5428	POLG	OMIM:203700
HP:0001408	Bile duct proliferation	27031	NPHP3	OMIM:267010
HP:0001408	Bile duct proliferation	27031	NPHP3	OMIM:208540
HP:0001408	Bile duct proliferation	5244	ABCB4	OMIM:602347
HP:0001408	Bile duct proliferation	5244	ABCB4	OMIM:600803
HP:0001408	Bile duct proliferation	54903	MKS1	OMIM:249000
HP:0001408	Bile duct proliferation	113220	KIF12	OMIM:619662
HP:0001408	Bile duct proliferation	23322	RPGRIP1L	OMIM:611561
HP:0001408	Bile duct proliferation	5261	PHKG2	OMIM:613027
HP:0001408	Bile duct proliferation	2542	SLC37A4	OMIM:619525
HP:0001408	Bile duct proliferation	51259	TMEM216	OMIM:603194
HP:0001409	Portal hypertension	171023	ASXL1	ORPHA:98850
HP:0001409	Portal hypertension	54790	TET2	ORPHA:98850
HP:0001409	Portal hypertension	54790	TET2	ORPHA:824
HP:0001409	Portal hypertension	54790	TET2	ORPHA:729
HP:0001409	Portal hypertension	867	CBL	ORPHA:98850
HP:0001409	Portal hypertension	861	RUNX1	ORPHA:98850
HP:0001409	Portal hypertension	6427	SRSF2	ORPHA:98850
HP:0001409	Portal hypertension	7840	ALMS1	ORPHA:64
HP:0001409	Portal hypertension	5314	PKHD1	OMIM:263200
HP:0001409	Portal hypertension	5314	PKHD1	ORPHA:53035
HP:0001409	Portal hypertension	5314	PKHD1	ORPHA:731
HP:0001409	Portal hypertension	55532	SLC30A10	ORPHA:309854
HP:0001409	Portal hypertension	72	ACTG2	OMIM:619431
HP:0001409	Portal hypertension	2632	GBE1	OMIM:232500
HP:0001409	Portal hypertension	9414	TJP2	OMIM:615878
HP:0001409	Portal hypertension	811	CALR	ORPHA:824
HP:0001409	Portal hypertension	811	CALR	ORPHA:131
HP:0001409	Portal hypertension	4352	MPL	ORPHA:824
HP:0001409	Portal hypertension	4352	MPL	ORPHA:729
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:824
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:131
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:729
HP:0001409	Portal hypertension	10056	FARSB	OMIM:613658
HP:0001409	Portal hypertension	91147	TMEM67	OMIM:216360
HP:0001409	Portal hypertension	91147	TMEM67	ORPHA:84081
HP:0001409	Portal hypertension	91147	TMEM67	ORPHA:1454
HP:0001409	Portal hypertension	197131	UBR1	OMIM:243800
HP:0001409	Portal hypertension	3594	IL12RB1	ORPHA:186
HP:0001409	Portal hypertension	23534	TNPO3	ORPHA:186
HP:0001409	Portal hypertension	3592	IL12A	ORPHA:186
HP:0001409	Portal hypertension	6689	SPIB	ORPHA:186
HP:0001409	Portal hypertension	5450	POU2AF1	ORPHA:186
HP:0001409	Portal hypertension	9966	TNFSF15	ORPHA:186
HP:0001409	Portal hypertension	79258	MMEL1	ORPHA:186
HP:0001409	Portal hypertension	3663	IRF5	ORPHA:186
HP:0001409	Portal hypertension	100147744	RNU7-1	OMIM:619487
HP:0001409	Portal hypertension	79991	STN1	OMIM:617341
HP:0001409	Portal hypertension	27031	NPHP3	OMIM:208540
HP:0001409	Portal hypertension	27031	NPHP3	OMIM:267010
HP:0001409	Portal hypertension	83737	ITCH	OMIM:613385
HP:0001409	Portal hypertension	83737	ITCH	ORPHA:228426
HP:0001409	Portal hypertension	1716	DGUOK	OMIM:617068
HP:0001409	Portal hypertension	1716	DGUOK	OMIM:251880
HP:0001409	Portal hypertension	50674	NEUROG3	ORPHA:83620
HP:0001409	Portal hypertension	51816	ADA2	OMIM:615688
HP:0001409	Portal hypertension	84936	ZFYVE19	OMIM:619849
HP:0001409	Portal hypertension	169792	GLIS3	OMIM:610199
HP:0001409	Portal hypertension	51473	DCDC2	ORPHA:84081
HP:0001409	Portal hypertension	51473	DCDC2	OMIM:617394
HP:0001409	Portal hypertension	23729	SHPK	ORPHA:440713
HP:0001409	Portal hypertension	9076	CLDN1	ORPHA:59303
HP:0001409	Portal hypertension	9076	CLDN1	OMIM:607626
HP:0001409	Portal hypertension	6663	SOX10	OMIM:609136
HP:0001409	Portal hypertension	51085	MLXIPL	OMIM:194050
HP:0001409	Portal hypertension	2006	ELN	OMIM:194050
HP:0001409	Portal hypertension	3516	RBPJ	ORPHA:974
HP:0001409	Portal hypertension	4851	NOTCH1	ORPHA:974
HP:0001409	Portal hypertension	57514	ARHGAP31	ORPHA:974
HP:0001409	Portal hypertension	57572	DOCK6	ORPHA:974
HP:0001409	Portal hypertension	285203	EOGT	ORPHA:974
HP:0001409	Portal hypertension	54567	DLL4	ORPHA:974
HP:0001409	Portal hypertension	54567	DLL4	OMIM:616589
HP:0001409	Portal hypertension	199221	DZIP1L	ORPHA:731
HP:0001409	Portal hypertension	9968	MED12	OMIM:301068
HP:0001409	Portal hypertension	2658	GDF2	ORPHA:774
HP:0001409	Portal hypertension	2658	GDF2	OMIM:615506
HP:0001409	Portal hypertension	94	ACVRL1	ORPHA:774
HP:0001409	Portal hypertension	4089	SMAD4	ORPHA:774
HP:0001409	Portal hypertension	2022	ENG	ORPHA:774
HP:0001409	Portal hypertension	4351	MPI	ORPHA:79319
HP:0001409	Portal hypertension	2153	F5	ORPHA:131
HP:0001409	Portal hypertension	2859	GPR35	ORPHA:171
HP:0001409	Portal hypertension	10507	SEMA4D	ORPHA:171
HP:0001409	Portal hypertension	4485	MST1	ORPHA:171
HP:0001409	Portal hypertension	6925	TCF4	ORPHA:171
HP:0001409	Portal hypertension	79989	IFT56	OMIM:619534
HP:0001409	Portal hypertension	3988	LIPA	OMIM:278000
HP:0001409	Portal hypertension	654	BMP6	ORPHA:465508
HP:0001409	Portal hypertension	3077	HFE	ORPHA:465508
HP:0001409	Portal hypertension	5557	PRIM1	OMIM:620005
HP:0001409	Portal hypertension	3431	SP110	ORPHA:79124
HP:0001409	Portal hypertension	5825	ABCD3	OMIM:616278
HP:0001409	Portal hypertension	93183	PIGM	OMIM:610293
HP:0001409	Portal hypertension	55340	GIMAP5	OMIM:619463
HP:0001409	Portal hypertension	113220	KIF12	OMIM:619662
HP:0001409	Portal hypertension	7289	TULP3	OMIM:619902
HP:0001409	Portal hypertension	56623	INPP5E	ORPHA:1454
HP:0001409	Portal hypertension	23322	RPGRIP1L	ORPHA:1454
HP:0001409	Portal hypertension	57545	CC2D2A	ORPHA:1454
HP:0001409	Portal hypertension	2783	GNB2	OMIM:619503
HP:0001409	Portal hypertension	56244	BTNL2	ORPHA:797
HP:0001409	Portal hypertension	3123	HLA-DRB1	ORPHA:797
HP:0011622	Inlet ventricular septal defect	79989	IFT56	OMIM:619534
HP:0011620	Abnormality of abdominal situs	7547	ZIC3	OMIM:306955
HP:0011620	Abnormality of abdominal situs	10815	CPLX1	ORPHA:280
HP:0011620	Abnormality of abdominal situs	54872	PIGG	ORPHA:280
HP:0011620	Abnormality of abdominal situs	7469	NELFA	ORPHA:280
HP:0011620	Abnormality of abdominal situs	1487	CTBP1	ORPHA:280
HP:0011620	Abnormality of abdominal situs	3954	LETM1	ORPHA:280
HP:0011620	Abnormality of abdominal situs	7468	NSD2	ORPHA:280
HP:0011620	Abnormality of abdominal situs	90416	CCDC32	OMIM:619123
HP:0011620	Abnormality of abdominal situs	168507	PKD1L1	OMIM:617205
HP:0011620	Abnormality of abdominal situs	146845	CFAP52	OMIM:619607
HP:0011620	Abnormality of abdominal situs	72	ACTG2	ORPHA:2604
HP:0011620	Abnormality of abdominal situs	2302	FOXJ1	OMIM:618699
HP:0011620	Abnormality of abdominal situs	220136	CFAP53	OMIM:614779
HP:0011620	Abnormality of abdominal situs	55997	CFC1	OMIM:605376
HP:0011620	Abnormality of abdominal situs	4838	NODAL	OMIM:270100
HP:0011620	Abnormality of abdominal situs	54919	DNAAF5	OMIM:614874
HP:0011620	Abnormality of abdominal situs	100128908	CIROP	OMIM:619702
HP:0011620	Abnormality of abdominal situs	83538	ODAD4	OMIM:617092
HP:0011620	Abnormality of abdominal situs	2657	GDF1	OMIM:208530
HP:0011624	Apical muscular ventricular septal defect	10735	STAG2	OMIM:301022
HP:0011625	Multiple muscular ventricular septal defects	51611	DPH5	OMIM:620070
HP:0011625	Multiple muscular ventricular septal defects	4613	MYCN	ORPHA:391641
HP:0011625	Multiple muscular ventricular septal defects	1828	DSG1	OMIM:615508
HP:0011626	Scimitar anomaly	745	MYRF	OMIM:618280
HP:0011626	Scimitar anomaly	7490	WT1	OMIM:608978
HP:0011628	Congenital defect of the pericardium	2627	GATA6	OMIM:600001
HP:0011629	Total absence of the pericardium	2627	GATA6	OMIM:600001
HP:0011623	Muscular ventricular septal defect	5337	PLD1	OMIM:212093
HP:0011623	Muscular ventricular septal defect	1802	DPH2	OMIM:620062
HP:0011623	Muscular ventricular septal defect	6123	RPL3L	OMIM:619371
HP:0011623	Muscular ventricular septal defect	5700	PSMC1	OMIM:620071
HP:0011623	Muscular ventricular septal defect	79228	THOC6	ORPHA:363444
HP:0011623	Muscular ventricular septal defect	5515	PPP2CA	OMIM:618354
HP:0011623	Muscular ventricular septal defect	64324	NSD1	OMIM:117550
HP:0011623	Muscular ventricular septal defect	4607	MYBPC3	OMIM:115197
HP:0011623	Muscular ventricular septal defect	2627	GATA6	OMIM:614474
HP:0011623	Muscular ventricular septal defect	6885	MAP3K7	OMIM:157800
HP:0011623	Muscular ventricular septal defect	2702	GJA5	OMIM:612474
HP:0011623	Muscular ventricular septal defect	2703	GJA8	OMIM:612474
HP:0011623	Muscular ventricular septal defect	100151683	RNU4ATAC	OMIM:210710
HP:0011623	Muscular ventricular septal defect	23511	NUP188	OMIM:618804
HP:0011623	Muscular ventricular septal defect	131118	DNAJC19	ORPHA:66634
HP:0011623	Muscular ventricular septal defect	23545	ATP6V0A2	OMIM:278250
HP:0011623	Muscular ventricular septal defect	51729	WBP11	OMIM:619227
HP:0011623	Muscular ventricular septal defect	2783	GNB2	OMIM:619503
HP:0011623	Muscular ventricular septal defect	439	GET3	OMIM:620203
HP:0011623	Muscular ventricular septal defect	374969	SVBP	OMIM:618569
HP:0011623	Muscular ventricular septal defect	79087	ALG12	ORPHA:79324
HP:0011623	Muscular ventricular septal defect	10735	STAG2	OMIM:301022
HP:0011623	Muscular ventricular septal defect	51611	DPH5	OMIM:620070
HP:0011623	Muscular ventricular septal defect	4613	MYCN	ORPHA:391641
HP:0011623	Muscular ventricular septal defect	1828	DSG1	OMIM:615508
HP:0001412	Enteroviral hepatitis	695	BTK	OMIM:300755
HP:0001412	Enteroviral hepatitis	695	BTK	OMIM:307200
HP:0001413	Micronodular cirrhosis	10159	ATP6AP2	OMIM:301045
HP:0001413	Micronodular cirrhosis	7157	TP53	OMIM:114550
HP:0001413	Micronodular cirrhosis	4233	MET	OMIM:114550
HP:0001413	Micronodular cirrhosis	8312	AXIN1	OMIM:114550
HP:0001413	Micronodular cirrhosis	5290	PIK3CA	OMIM:114550
HP:0001413	Micronodular cirrhosis	841	CASP8	OMIM:114550
HP:0001413	Micronodular cirrhosis	5157	PDGFRL	OMIM:114550
HP:0001413	Micronodular cirrhosis	3482	IGF2R	OMIM:114550
HP:0001413	Micronodular cirrhosis	324	APC	OMIM:114550
HP:0001413	Micronodular cirrhosis	1499	CTNNB1	OMIM:114550
HP:0001413	Micronodular cirrhosis	11277	TREX1	OMIM:192315
HP:0001413	Micronodular cirrhosis	55532	SLC30A10	ORPHA:309854
HP:0001413	Micronodular cirrhosis	51099	ABHD5	ORPHA:98907
HP:0001413	Micronodular cirrhosis	84936	ZFYVE19	OMIM:619849
HP:0001413	Micronodular cirrhosis	4358	MPV17	OMIM:256810
HP:0001413	Micronodular cirrhosis	383	ARG1	OMIM:207800
HP:0001413	Micronodular cirrhosis	9371	KIF3B	OMIM:618955
HP:0001413	Micronodular cirrhosis	3875	KRT18	OMIM:215600
HP:0001413	Micronodular cirrhosis	5428	POLG	OMIM:203700
HP:0001413	Micronodular cirrhosis	5277	PIGA	OMIM:301072
HP:0001413	Micronodular cirrhosis	55768	NGLY1	ORPHA:404454
HP:0001413	Micronodular cirrhosis	6888	TALDO1	OMIM:606003
HP:0001413	Micronodular cirrhosis	1716	DGUOK	OMIM:251880
HP:0001414	Microvesicular hepatic steatosis	10165	SLC25A13	OMIM:605814
HP:0001414	Microvesicular hepatic steatosis	27183	VPS4A	OMIM:619273
HP:0001414	Microvesicular hepatic steatosis	10128	LRPPRC	OMIM:220111
HP:0001414	Microvesicular hepatic steatosis	55898	UNC45A	OMIM:619377
HP:0001414	Microvesicular hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001414	Microvesicular hepatic steatosis	374354	NHLRC2	OMIM:618278
HP:0001414	Microvesicular hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001414	Microvesicular hepatic steatosis	5277	PIGA	OMIM:300868
HP:0001414	Microvesicular hepatic steatosis	65080	MRPL44	OMIM:615395
HP:0001414	Microvesicular hepatic steatosis	79587	CARS2	OMIM:616672
HP:0001414	Microvesicular hepatic steatosis	7019	TFAM	OMIM:617156
HP:0001414	Microvesicular hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001414	Microvesicular hepatic steatosis	8565	YARS1	OMIM:619418
HP:0001414	Microvesicular hepatic steatosis	11232	POLG2	OMIM:618528
HP:0001414	Microvesicular hepatic steatosis	131118	DNAJC19	OMIM:610198
HP:0001414	Microvesicular hepatic steatosis	131118	DNAJC19	ORPHA:66634
HP:0001414	Microvesicular hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001414	Microvesicular hepatic steatosis	28976	ACAD9	OMIM:611126
HP:0001414	Microvesicular hepatic steatosis	5428	POLG	OMIM:203700
HP:0001414	Microvesicular hepatic steatosis	55768	NGLY1	ORPHA:404454
HP:0001414	Microvesicular hepatic steatosis	617	BCS1L	OMIM:124000
HP:0001414	Microvesicular hepatic steatosis	6584	SLC22A5	OMIM:212140
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:607602
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:609165
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:146600
HP:0000006	Autosomal dominant inheritance	8216	LZTR1	OMIM:616564
HP:0000006	Autosomal dominant inheritance	8216	LZTR1	OMIM:615670
HP:0000006	Autosomal dominant inheritance	4750	NEK1	OMIM:617892
HP:0000006	Autosomal dominant inheritance	25913	POT1	OMIM:616568
HP:0000006	Autosomal dominant inheritance	25913	POT1	OMIM:615848
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:617898
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:118100
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:613094
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:613703
HP:0000006	Autosomal dominant inheritance	161582	DNAAF4	OMIM:127700
HP:0000006	Autosomal dominant inheritance	55240	STEAP3	OMIM:615234
HP:0000006	Autosomal dominant inheritance	3910	LAMA4	OMIM:615235
HP:0000006	Autosomal dominant inheritance	1134	CHRNA1	OMIM:608930
HP:0000006	Autosomal dominant inheritance	1134	CHRNA1	OMIM:601462
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:156250
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:151100
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:607785
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:163950
HP:0000006	Autosomal dominant inheritance	149775	GNAS-AS1	OMIM:603233
HP:0000006	Autosomal dominant inheritance	8675	STX16	OMIM:603233
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:603233
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:166350
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:612463
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:612462
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:103580
HP:0000006	Autosomal dominant inheritance	1421	CRYGD	OMIM:115700
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:173600
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:114500
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:135150
HP:0000006	Autosomal dominant inheritance	283489	CHAMP1	OMIM:616579
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:619605
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:104290
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:602481
HP:0000006	Autosomal dominant inheritance	84665	MYPN	OMIM:615248
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:619606
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:128235
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:601338
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:614820
HP:0000006	Autosomal dominant inheritance	4790	NFKB1	OMIM:616576
HP:0000006	Autosomal dominant inheritance	54795	TRPM4	OMIM:604559
HP:0000006	Autosomal dominant inheritance	54795	TRPM4	OMIM:618531
HP:0000006	Autosomal dominant inheritance	3190	HNRNPK	OMIM:616580
HP:0000006	Autosomal dominant inheritance	653509	SFTPA1	OMIM:619611
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:174900
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:139210
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:260350
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:175050
HP:0000006	Autosomal dominant inheritance	657	BMPR1A	OMIM:174900
HP:0000006	Autosomal dominant inheritance	657	BMPR1A	OMIM:610069
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:616583
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:608805
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:184255
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:184250
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:132450
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:609162
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:183900
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:619248
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:604864
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:156550
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:151210
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:200610
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:150600
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:271700
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:108300
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:609508
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:146000
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:616482
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:109800
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:187601
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:187600
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:114500
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:100800
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:620192
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:602849
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:610474
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:612247
HP:0000006	Autosomal dominant inheritance	54567	DLL4	OMIM:616589
HP:0000006	Autosomal dominant inheritance	55366	LGR4	OMIM:619613
HP:0000006	Autosomal dominant inheritance	7010	TEK	OMIM:600195
HP:0000006	Autosomal dominant inheritance	7010	TEK	OMIM:617272
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:603218
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:600072
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:123400
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:606688
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:137440
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:136680
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:608978
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:256370
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:106210
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194080
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194072
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194070
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:616592
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:615007
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:228550
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:213600
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:601812
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:131440
HP:0000006	Autosomal dominant inheritance	9997	SCO2	OMIM:608908
HP:0000006	Autosomal dominant inheritance	81848	SPRY4	OMIM:615266
HP:0000006	Autosomal dominant inheritance	10347	ABCA7	OMIM:608907
HP:0000006	Autosomal dominant inheritance	1848	DUSP6	OMIM:615269
HP:0000006	Autosomal dominant inheritance	54756	IL17RD	OMIM:615267
HP:0000006	Autosomal dominant inheritance	54345	SOX18	OMIM:137940
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:600175
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:184252
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:181405
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:168400
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:606835
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:606071
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:113500
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:156530
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:617383
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:184095
HP:0000006	Autosomal dominant inheritance	8822	FGF17	OMIM:615270
HP:0000006	Autosomal dominant inheritance	23767	FLRT3	OMIM:615271
HP:0000006	Autosomal dominant inheritance	4284	MIP	OMIM:615274
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:615278
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:114480
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:109800
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:609942
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:614470
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:211980
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:260350
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:600268
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:601626
HP:0000006	Autosomal dominant inheritance	5604	MAP2K1	OMIM:615279
HP:0000006	Autosomal dominant inheritance	5604	MAP2K1	OMIM:163950
HP:0000006	Autosomal dominant inheritance	79719	AAGAB	OMIM:148600
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:177170
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:132400
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:619161
HP:0000006	Autosomal dominant inheritance	5605	MAP2K2	OMIM:615280
HP:0000006	Autosomal dominant inheritance	6141	RPL18	OMIM:618310
HP:0000006	Autosomal dominant inheritance	11224	RPL35	OMIM:618312
HP:0000006	Autosomal dominant inheritance	3800	KIF5C	OMIM:615282
HP:0000006	Autosomal dominant inheritance	6210	RPS15A	OMIM:618313
HP:0000006	Autosomal dominant inheritance	476	ATP1A1	OMIM:618314
HP:0000006	Autosomal dominant inheritance	476	ATP1A1	OMIM:618036
HP:0000006	Autosomal dominant inheritance	11155	LDB3	OMIM:601493
HP:0000006	Autosomal dominant inheritance	11155	LDB3	OMIM:609452
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:601494
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:115195
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:612422
HP:0000006	Autosomal dominant inheritance	1910	EDNRB	OMIM:600155
HP:0000006	Autosomal dominant inheritance	1910	EDNRB	OMIM:277580
HP:0000006	Autosomal dominant inheritance	57609	DIP2B	OMIM:136630
HP:0000006	Autosomal dominant inheritance	6654	SOS1	OMIM:135300
HP:0000006	Autosomal dominant inheritance	6654	SOS1	OMIM:610733
HP:0000006	Autosomal dominant inheritance	23299	BICD2	OMIM:615290
HP:0000006	Autosomal dominant inheritance	23299	BICD2	OMIM:618291
HP:0000006	Autosomal dominant inheritance	1436	CSF1R	OMIM:221820
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:615293
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:125310
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:130720
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:615298
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:112600
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:113100
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:615072
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:610017
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:170500
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:170400
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:613345
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:168300
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:608390
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:123320
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:192600
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:606072
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:614321
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:611818
HP:0000006	Autosomal dominant inheritance	23499	MACF1	OMIM:618325
HP:0000006	Autosomal dominant inheritance	4087	SMAD2	OMIM:619656
HP:0000006	Autosomal dominant inheritance	81839	VANGL1	OMIM:600145
HP:0000006	Autosomal dominant inheritance	81839	VANGL1	OMIM:182940
HP:0000006	Autosomal dominant inheritance	1387	CREBBP	OMIM:618332
HP:0000006	Autosomal dominant inheritance	1387	CREBBP	OMIM:180849
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:618333
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:114500
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:180849
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:613684
HP:0000006	Autosomal dominant inheritance	11231	SEC63	OMIM:617004
HP:0000006	Autosomal dominant inheritance	1523	CUX1	OMIM:618330
HP:0000006	Autosomal dominant inheritance	16	AARS1	OMIM:619661
HP:0000006	Autosomal dominant inheritance	16	AARS1	OMIM:613287
HP:0000006	Autosomal dominant inheritance	58495	OVOL2	OMIM:122000
HP:0000006	Autosomal dominant inheritance	4023	LPL	OMIM:144250
HP:0000006	Autosomal dominant inheritance	2744	GLS	OMIM:618339
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:601472
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:600794
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:619042
HP:0000006	Autosomal dominant inheritance	5309	PITX3	OMIM:107250
HP:0000006	Autosomal dominant inheritance	5309	PITX3	OMIM:610623
HP:0000006	Autosomal dominant inheritance	658	BMPR1B	OMIM:112600
HP:0000006	Autosomal dominant inheritance	658	BMPR1B	OMIM:616849
HP:0000006	Autosomal dominant inheritance	650	BMP2	OMIM:112600
HP:0000006	Autosomal dominant inheritance	650	BMP2	OMIM:617877
HP:0000006	Autosomal dominant inheritance	26121	PRPF31	OMIM:600138
HP:0000006	Autosomal dominant inheritance	4311	MME	OMIM:617018
HP:0000006	Autosomal dominant inheritance	4311	MME	OMIM:617017
HP:0000006	Autosomal dominant inheritance	5396	PRRX1	OMIM:202650
HP:0000006	Autosomal dominant inheritance	4001	LMNB1	OMIM:169500
HP:0000006	Autosomal dominant inheritance	4001	LMNB1	OMIM:619179
HP:0000006	Autosomal dominant inheritance	3857	KRT9	OMIM:144200
HP:0000006	Autosomal dominant inheritance	5575	PRKAR1B	OMIM:619680
HP:0000006	Autosomal dominant inheritance	5515	PPP2CA	OMIM:618354
HP:0000006	Autosomal dominant inheritance	5610	EIF2AK2	OMIM:619687
HP:0000006	Autosomal dominant inheritance	5610	EIF2AK2	OMIM:618877
HP:0000006	Autosomal dominant inheritance	6096	RORB	OMIM:618357
HP:0000006	Autosomal dominant inheritance	518	ATP5MC3	OMIM:619681
HP:0000006	Autosomal dominant inheritance	4771	NF2	OMIM:162091
HP:0000006	Autosomal dominant inheritance	4771	NF2	OMIM:101000
HP:0000006	Autosomal dominant inheritance	4771	NF2	OMIM:607174
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:162091
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:609322
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:614608
HP:0000006	Autosomal dominant inheritance	8912	CACNA1H	OMIM:617027
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:608089
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:176807
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:137215
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:119580
HP:0000006	Autosomal dominant inheritance	4437	MSH3	OMIM:608089
HP:0000006	Autosomal dominant inheritance	2956	MSH6	OMIM:608089
HP:0000006	Autosomal dominant inheritance	2956	MSH6	OMIM:614350
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:608089
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:114500
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:614385
HP:0000006	Autosomal dominant inheritance	6785	ELOVL4	OMIM:600110
HP:0000006	Autosomal dominant inheritance	6785	ELOVL4	OMIM:133190
HP:0000006	Autosomal dominant inheritance	55777	MBD5	OMIM:156200
HP:0000006	Autosomal dominant inheritance	1145	CHRNE	OMIM:605809
HP:0000006	Autosomal dominant inheritance	6601	SMARCC2	OMIM:618362
HP:0000006	Autosomal dominant inheritance	6928	HNF1B	OMIM:137920
HP:0000006	Autosomal dominant inheritance	6928	HNF1B	OMIM:125853
HP:0000006	Autosomal dominant inheritance	92255	LMBRD2	OMIM:619694
HP:0000006	Autosomal dominant inheritance	7021	TFAP2B	OMIM:617035
HP:0000006	Autosomal dominant inheritance	7021	TFAP2B	OMIM:169100
HP:0000006	Autosomal dominant inheritance	7468	NSD2	OMIM:619695
HP:0000006	Autosomal dominant inheritance	7468	NSD2	OMIM:194190
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:618364
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:617080
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:614558
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:614306
HP:0000006	Autosomal dominant inheritance	93166	PRDM6	OMIM:617039
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:260500
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:114480
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:137800
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:618165
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:151623
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:114500
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:260350
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:202300
HP:0000006	Autosomal dominant inheritance	9132	KCNQ4	OMIM:600101
HP:0000006	Autosomal dominant inheritance	7703	PCGF2	OMIM:618371
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:113900
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:603830
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:601154
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:601144
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:614022
HP:0000006	Autosomal dominant inheritance	11342	RNF13	OMIM:618379
HP:0000006	Autosomal dominant inheritance	9935	MAFB	OMIM:617041
HP:0000006	Autosomal dominant inheritance	9935	MAFB	OMIM:166300
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:617047
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:614065
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:609524
HP:0000006	Autosomal dominant inheritance	4761	NEUROD2	OMIM:618374
HP:0000006	Autosomal dominant inheritance	208	AKT2	OMIM:240900
HP:0000006	Autosomal dominant inheritance	208	AKT2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:180750
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:617746
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:101400
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:123100
HP:0000006	Autosomal dominant inheritance	4210	MEFV	OMIM:608068
HP:0000006	Autosomal dominant inheritance	4210	MEFV	OMIM:134610
HP:0000006	Autosomal dominant inheritance	50801	KCNK4	OMIM:618381
HP:0000006	Autosomal dominant inheritance	54809	SAMD9	OMIM:617053
HP:0000006	Autosomal dominant inheritance	54809	SAMD9	OMIM:619041
HP:0000006	Autosomal dominant inheritance	29927	SEC61A1	OMIM:617056
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:608051
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:603786
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:612657
HP:0000006	Autosomal dominant inheritance	1413	CRYBA4	OMIM:610425
HP:0000006	Autosomal dominant inheritance	5589	PRKCSH	OMIM:174050
HP:0000006	Autosomal dominant inheritance	128178	EDARADD	OMIM:129490
HP:0000006	Autosomal dominant inheritance	128178	EDARADD	OMIM:614940
HP:0000006	Autosomal dominant inheritance	10913	EDAR	OMIM:129490
HP:0000006	Autosomal dominant inheritance	57061	HYMAI	OMIM:601410
HP:0000006	Autosomal dominant inheritance	346171	ZFP57	OMIM:601410
HP:0000006	Autosomal dominant inheritance	1457	CSNK2A1	OMIM:617062
HP:0000006	Autosomal dominant inheritance	9129	PRPF3	OMIM:601414
HP:0000006	Autosomal dominant inheritance	7204	TRIO	OMIM:617061
HP:0000006	Autosomal dominant inheritance	7204	TRIO	OMIM:618825
HP:0000006	Autosomal dominant inheritance	4009	LMX1A	OMIM:601412
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:153100
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:618780
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:602089
HP:0000006	Autosomal dominant inheritance	60468	BACH2	OMIM:618394
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:601419
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:181400
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:604765
HP:0000006	Autosomal dominant inheritance	2566	GABRG2	OMIM:618396
HP:0000006	Autosomal dominant inheritance	2566	GABRG2	OMIM:607681
HP:0000006	Autosomal dominant inheritance	91662	NLRP12	OMIM:611762
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:120200
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:136520
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:120430
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:106210
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:604229
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:148190
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:165550
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:194072
HP:0000006	Autosomal dominant inheritance	50964	SOST	OMIM:122860
HP:0000006	Autosomal dominant inheritance	7480	WNT10B	OMIM:617073
HP:0000006	Autosomal dominant inheritance	4486	MST1R	OMIM:617075
HP:0000006	Autosomal dominant inheritance	2521	FUS	OMIM:608030
HP:0000006	Autosomal dominant inheritance	2521	FUS	OMIM:614782
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:611773
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:180000
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:175780
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:618564
HP:0000006	Autosomal dominant inheritance	284058	KANSL1	OMIM:610443
HP:0000006	Autosomal dominant inheritance	2779	GNAT1	OMIM:610444
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:610445
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:136880
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:613731
HP:0000006	Autosomal dominant inheritance	23171	GPD1L	OMIM:611777
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:610448
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:152700
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:192315
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:225750
HP:0000006	Autosomal dominant inheritance	5216	PFN1	OMIM:614808
HP:0000006	Autosomal dominant inheritance	81494	CFHR5	OMIM:614809
HP:0000006	Autosomal dominant inheritance	7474	WNT5A	OMIM:180700
HP:0000006	Autosomal dominant inheritance	1855	DVL1	OMIM:180700
HP:0000006	Autosomal dominant inheritance	1855	DVL1	OMIM:616331
HP:0000006	Autosomal dominant inheritance	124093	CCDC78	OMIM:614807
HP:0000006	Autosomal dominant inheritance	5903	RANBP2	OMIM:608033
HP:0000006	Autosomal dominant inheritance	79092	CARD14	OMIM:602723
HP:0000006	Autosomal dominant inheritance	79092	CARD14	OMIM:173200
HP:0000006	Autosomal dominant inheritance	1291	COL6A1	OMIM:158810
HP:0000006	Autosomal dominant inheritance	1291	COL6A1	OMIM:254090
HP:0000006	Autosomal dominant inheritance	1292	COL6A2	OMIM:158810
HP:0000006	Autosomal dominant inheritance	1292	COL6A2	OMIM:254090
HP:0000006	Autosomal dominant inheritance	1293	COL6A3	OMIM:158810
HP:0000006	Autosomal dominant inheritance	1293	COL6A3	OMIM:254090
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:122880
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:148820
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:193500
HP:0000006	Autosomal dominant inheritance	2034	EPAS1	OMIM:611783
HP:0000006	Autosomal dominant inheritance	7042	TGFB2	OMIM:614816
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:611788
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:613834
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:614042
HP:0000006	Autosomal dominant inheritance	3516	RBPJ	OMIM:614814
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:609352
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619555
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619588
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619594
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:131760
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:179850
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:131960
HP:0000006	Autosomal dominant inheritance	2294	FOXF1	OMIM:265380
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:183086
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:108500
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:141500
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:617106
HP:0000006	Autosomal dominant inheritance	2643	GCH1	OMIM:128230
HP:0000006	Autosomal dominant inheritance	5885	RAD21	OMIM:614701
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:608133
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:136880
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:613105
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:169150
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:608161
HP:0000006	Autosomal dominant inheritance	6094	ROM1	OMIM:608133
HP:0000006	Autosomal dominant inheritance	6094	ROM1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	55811	ADCY10	OMIM:143870
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:180800
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607677
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:618184
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:118200
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:145900
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607791
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607736
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:180800
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:118220
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:139393
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:162500
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:118300
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:145900
HP:0000006	Autosomal dominant inheritance	6440	SFTPC	OMIM:178500
HP:0000006	Autosomal dominant inheritance	6440	SFTPC	OMIM:610913
HP:0000006	Autosomal dominant inheritance	727897	MUC5B	OMIM:178500
HP:0000006	Autosomal dominant inheritance	729238	SFTPA2	OMIM:178500
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:178500
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:614742
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:615134
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:613989
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:127550
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:601626
HP:0000006	Autosomal dominant inheritance	6311	ATXN2	OMIM:183090
HP:0000006	Autosomal dominant inheritance	6311	ATXN2	OMIM:168600
HP:0000006	Autosomal dominant inheritance	1135	CHRNA2	OMIM:610353
HP:0000006	Autosomal dominant inheritance	547	KIF1A	OMIM:610357
HP:0000006	Autosomal dominant inheritance	547	KIF1A	OMIM:614255
HP:0000006	Autosomal dominant inheritance	1286	COL4A4	OMIM:141200
HP:0000006	Autosomal dominant inheritance	23020	SNRNP200	OMIM:610359
HP:0000006	Autosomal dominant inheritance	4597	MVD	OMIM:614714
HP:0000006	Autosomal dominant inheritance	7780	SLC30A2	OMIM:608118
HP:0000006	Autosomal dominant inheritance	2483	FRG1	OMIM:158900
HP:0000006	Autosomal dominant inheritance	64324	NSD1	OMIM:117550
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:179800
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:185020
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:612653
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:166900
HP:0000006	Autosomal dominant inheritance	336	APOA2	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2053	EPHX2	OMIM:143890
HP:0000006	Autosomal dominant inheritance	10842	PPP1R17	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2690	GHR	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2690	GHR	OMIM:604271
HP:0000006	Autosomal dominant inheritance	3949	LDLR	OMIM:143890
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:609446
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:618729
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:618596
HP:0000006	Autosomal dominant inheritance	2492	FSHR	OMIM:608115
HP:0000006	Autosomal dominant inheritance	6843	VAMP1	OMIM:108600
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:186100
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:104100
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:617525
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:164200
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:610374
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:256450
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:240800
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:618857
HP:0000006	Autosomal dominant inheritance	1028	CDKN1C	OMIM:614732
HP:0000006	Autosomal dominant inheritance	1028	CDKN1C	OMIM:130650
HP:0000006	Autosomal dominant inheritance	25942	SIN3A	OMIM:613406
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:605074
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:607278
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:620019
HP:0000006	Autosomal dominant inheritance	5546	PRCC	OMIM:605074
HP:0000006	Autosomal dominant inheritance	10801	SEPTIN9	OMIM:162100
HP:0000006	Autosomal dominant inheritance	84839	RAX2	OMIM:610381
HP:0000006	Autosomal dominant inheritance	3651	PDX1	OMIM:606392
HP:0000006	Autosomal dominant inheritance	3651	PDX1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7012	TERC	OMIM:614743
HP:0000006	Autosomal dominant inheritance	7012	TERC	OMIM:127550
HP:0000006	Autosomal dominant inheritance	4760	NEUROD1	OMIM:606394
HP:0000006	Autosomal dominant inheritance	4760	NEUROD1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	1080	CFTR	OMIM:167800
HP:0000006	Autosomal dominant inheritance	1080	CFTR	OMIM:211400
HP:0000006	Autosomal dominant inheritance	11330	CTRC	OMIM:167800
HP:0000006	Autosomal dominant inheritance	6690	SPINK1	OMIM:167800
HP:0000006	Autosomal dominant inheritance	6690	SPINK1	OMIM:608189
HP:0000006	Autosomal dominant inheritance	5645	PRSS2	OMIM:167800
HP:0000006	Autosomal dominant inheritance	5644	PRSS1	OMIM:167800
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:188740
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:186200
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:135750
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:174500
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:119300
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:608864
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:119500
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131850
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131750
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131705
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:607523
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:604129
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:132000
HP:0000006	Autosomal dominant inheritance	4784	NFIX	OMIM:614753
HP:0000006	Autosomal dominant inheritance	4784	NFIX	OMIM:602535
HP:0000006	Autosomal dominant inheritance	65055	REEP1	OMIM:614751
HP:0000006	Autosomal dominant inheritance	65055	REEP1	OMIM:610250
HP:0000006	Autosomal dominant inheritance	23261	CAMTA1	OMIM:614756
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:613424
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:612098
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:612794
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:613426
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:192600
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:160500
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:608358
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:128200
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:605751
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:602066
HP:0000006	Autosomal dominant inheritance	2535	FZD2	OMIM:164745
HP:0000006	Autosomal dominant inheritance	6949	TCOF1	OMIM:154500
HP:0000006	Autosomal dominant inheritance	10133	OPTN	OMIM:613435
HP:0000006	Autosomal dominant inheritance	10133	OPTN	OMIM:137760
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:605041
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:132700
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:619132
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:601606
HP:0000006	Autosomal dominant inheritance	171023	ASXL1	OMIM:605039
HP:0000006	Autosomal dominant inheritance	1376	CPT2	OMIM:255110
HP:0000006	Autosomal dominant inheritance	1376	CPT2	OMIM:614212
HP:0000006	Autosomal dominant inheritance	4208	MEF2C	OMIM:613443
HP:0000006	Autosomal dominant inheritance	22907	DHX30	OMIM:617804
HP:0000006	Autosomal dominant inheritance	196528	ARID2	OMIM:617808
HP:0000006	Autosomal dominant inheritance	9230	RAB11B	OMIM:617807
HP:0000006	Autosomal dominant inheritance	80000	GREB1L	OMIM:617805
HP:0000006	Autosomal dominant inheritance	80000	GREB1L	OMIM:619274
HP:0000006	Autosomal dominant inheritance	4054	LTBP3	OMIM:617809
HP:0000006	Autosomal dominant inheritance	26058	GIGYF2	OMIM:607688
HP:0000006	Autosomal dominant inheritance	8048	CSRP3	OMIM:612124
HP:0000006	Autosomal dominant inheritance	8048	CSRP3	OMIM:607482
HP:0000006	Autosomal dominant inheritance	2290	FOXG1	OMIM:613454
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:612126
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:608885
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:601042
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:606777
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:614847
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:607684
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:617882
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:607734
HP:0000006	Autosomal dominant inheritance	785	CACNB4	OMIM:607682
HP:0000006	Autosomal dominant inheritance	785	CACNB4	OMIM:613855
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:607678
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:145900
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:605253
HP:0000006	Autosomal dominant inheritance	4646	MYO6	OMIM:606346
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:617821
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:259420
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166710
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:619120
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166210
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166220
HP:0000006	Autosomal dominant inheritance	4792	NFKBIA	OMIM:612132
HP:0000006	Autosomal dominant inheritance	5447	POR	OMIM:207410
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:207410
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123500
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:614592
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101200
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123790
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101400
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:149730
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123150
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101600
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131800
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131760
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:161000
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131900
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:125595
HP:0000006	Autosomal dominant inheritance	2561	GABRB2	OMIM:617829
HP:0000006	Autosomal dominant inheritance	54822	TRPM7	OMIM:105500
HP:0000006	Autosomal dominant inheritance	25953	PNKD	OMIM:118800
HP:0000006	Autosomal dominant inheritance	3930	LBR	OMIM:613471
HP:0000006	Autosomal dominant inheritance	3930	LBR	OMIM:169400
HP:0000006	Autosomal dominant inheritance	116150	NUS1	OMIM:617831
HP:0000006	Autosomal dominant inheritance	6709	SPTAN1	OMIM:613477
HP:0000006	Autosomal dominant inheritance	4915	NTRK2	OMIM:617830
HP:0000006	Autosomal dominant inheritance	4915	NTRK2	OMIM:613886
HP:0000006	Autosomal dominant inheritance	79947	DHDDS	OMIM:617836
HP:0000006	Autosomal dominant inheritance	668	FOXL2	OMIM:608996
HP:0000006	Autosomal dominant inheritance	668	FOXL2	OMIM:110100
HP:0000006	Autosomal dominant inheritance	311	ANXA11	OMIM:617839
HP:0000006	Autosomal dominant inheritance	311	ANXA11	OMIM:619733
HP:0000006	Autosomal dominant inheritance	10804	GJB6	OMIM:129500
HP:0000006	Autosomal dominant inheritance	10804	GJB6	OMIM:612643
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:255960
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:101800
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:160980
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:610489
HP:0000006	Autosomal dominant inheritance	57165	GJC2	OMIM:613480
HP:0000006	Autosomal dominant inheritance	3762	KCNJ5	OMIM:613485
HP:0000006	Autosomal dominant inheritance	3762	KCNJ5	OMIM:613677
HP:0000006	Autosomal dominant inheritance	26060	APPL1	OMIM:616511
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:612158
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:618654
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:618655
HP:0000006	Autosomal dominant inheritance	81790	RNF170	OMIM:608984
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:607654
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:113800
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:600962
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:620148
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:146590
HP:0000006	Autosomal dominant inheritance	3887	KRT81	OMIM:158000
HP:0000006	Autosomal dominant inheritance	3889	KRT83	OMIM:158000
HP:0000006	Autosomal dominant inheritance	3892	KRT86	OMIM:158000
HP:0000006	Autosomal dominant inheritance	2703	GJA8	OMIM:116200
HP:0000006	Autosomal dominant inheritance	2703	GJA8	OMIM:612474
HP:0000006	Autosomal dominant inheritance	6812	STXBP1	OMIM:612164
HP:0000006	Autosomal dominant inheritance	1213	CLTC	OMIM:617854
HP:0000006	Autosomal dominant inheritance	23040	MYT1L	OMIM:616521
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:607641
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:105400
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:168605
HP:0000006	Autosomal dominant inheritance	203228	C9orf72	OMIM:105550
HP:0000006	Autosomal dominant inheritance	1495	CTNNA1	OMIM:608970
HP:0000006	Autosomal dominant inheritance	11235	PDCD10	OMIM:603285
HP:0000006	Autosomal dominant inheritance	83605	CCM2	OMIM:603284
HP:0000006	Autosomal dominant inheritance	81	ACTN4	OMIM:603278
HP:0000006	Autosomal dominant inheritance	284252	KCTD1	OMIM:181270
HP:0000006	Autosomal dominant inheritance	3040	HBA2	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3040	HBA2	OMIM:617981
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:603902
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:141749
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:617971
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:617980
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:617973
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:617981
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:607634
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:617875
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:133780
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:601813
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:144750
HP:0000006	Autosomal dominant inheritance	726	CAPN5	OMIM:193235
HP:0000006	Autosomal dominant inheritance	3026	HABP2	OMIM:616535
HP:0000006	Autosomal dominant inheritance	3026	HABP2	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2304	FOXE1	OMIM:616534
HP:0000006	Autosomal dominant inheritance	57688	ZSWIM6	OMIM:617865
HP:0000006	Autosomal dominant inheritance	57688	ZSWIM6	OMIM:603671
HP:0000006	Autosomal dominant inheritance	2893	GRIA4	OMIM:617864
HP:0000006	Autosomal dominant inheritance	3661	IRF3	OMIM:616532
HP:0000006	Autosomal dominant inheritance	81562	LMAN2L	OMIM:617863
HP:0000006	Autosomal dominant inheritance	2629	GBA1	OMIM:127750
HP:0000006	Autosomal dominant inheritance	2629	GBA1	OMIM:168600
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:127750
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:605543
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:168601
HP:0000006	Autosomal dominant inheritance	6620	SNCB	OMIM:127750
HP:0000006	Autosomal dominant inheritance	114327	EFHC1	OMIM:607631
HP:0000006	Autosomal dominant inheritance	114327	EFHC1	OMIM:254770
HP:0000006	Autosomal dominant inheritance	1181	CLCN2	OMIM:607628
HP:0000006	Autosomal dominant inheritance	1181	CLCN2	OMIM:605635
HP:0000006	Autosomal dominant inheritance	3769	KCNJ13	OMIM:193230
HP:0000006	Autosomal dominant inheritance	79053	ALG8	OMIM:617874
HP:0000006	Autosomal dominant inheritance	83990	BRIP1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5002	SLC22A18	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5002	SLC22A18	OMIM:211980
HP:0000006	Autosomal dominant inheritance	4835	NQO2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5245	PHB1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:609265
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:114500
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:176807
HP:0000006	Autosomal dominant inheritance	3161	HMMR	OMIM:114480
HP:0000006	Autosomal dominant inheritance	580	BARD1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:619538
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:615108
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:167000
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:211980
HP:0000006	Autosomal dominant inheritance	672	BRCA1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	672	BRCA1	OMIM:604370
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:176807
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:612555
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:155255
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:194070
HP:0000006	Autosomal dominant inheritance	472	ATM	OMIM:114480
HP:0000006	Autosomal dominant inheritance	8493	PPM1D	OMIM:114480
HP:0000006	Autosomal dominant inheritance	8493	PPM1D	OMIM:617450
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:615109
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	79728	PALB2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:614508
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:617244
HP:0000006	Autosomal dominant inheritance	7517	XRCC3	OMIM:114480
HP:0000006	Autosomal dominant inheritance	9821	RB1CC1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	2099	ESR1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	2099	ESR1	OMIM:157300
HP:0000006	Autosomal dominant inheritance	841	CASP8	OMIM:114480
HP:0000006	Autosomal dominant inheritance	841	CASP8	OMIM:211980
HP:0000006	Autosomal dominant inheritance	8438	RAD54L	OMIM:114480
HP:0000006	Autosomal dominant inheritance	10383	TUBB4B	OMIM:617879
HP:0000006	Autosomal dominant inheritance	1285	COL4A3	OMIM:104200
HP:0000006	Autosomal dominant inheritance	65057	ACD	OMIM:616553
HP:0000006	Autosomal dominant inheritance	22861	NLRP1	OMIM:615225
HP:0000006	Autosomal dominant inheritance	22861	NLRP1	OMIM:617388
HP:0000006	Autosomal dominant inheritance	2212	FCGR2A	OMIM:152700
HP:0000006	Autosomal dominant inheritance	2213	FCGR2B	OMIM:152700
HP:0000006	Autosomal dominant inheritance	26191	PTPN22	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:616100
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:140300
HP:0000006	Autosomal dominant inheritance	1773	DNASE1	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1453	CSNK1D	OMIM:615224
HP:0000006	Autosomal dominant inheritance	6655	SOS2	OMIM:616559
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:193220
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:613194
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:153700
HP:0000006	Autosomal dominant inheritance	7072	TIA1	OMIM:604454
HP:0000006	Autosomal dominant inheritance	7072	TIA1	OMIM:619133
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:608810
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:615184
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:613763
HP:0000006	Autosomal dominant inheritance	23646	PLD3	OMIM:617770
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:617772
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:120100
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:191900
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:148200
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:607115
HP:0000006	Autosomal dominant inheritance	343450	KCNT2	OMIM:617771
HP:0000006	Autosomal dominant inheritance	84433	CARD11	OMIM:616452
HP:0000006	Autosomal dominant inheritance	84433	CARD11	OMIM:617638
HP:0000006	Autosomal dominant inheritance	8792	TNFRSF11A	OMIM:174810
HP:0000006	Autosomal dominant inheritance	8792	TNFRSF11A	OMIM:602080
HP:0000006	Autosomal dominant inheritance	51111	KMT5B	OMIM:617788
HP:0000006	Autosomal dominant inheritance	55689	YEATS2	OMIM:615127
HP:0000006	Autosomal dominant inheritance	80155	NAA15	OMIM:617787
HP:0000006	Autosomal dominant inheritance	526	ATP6V1B2	OMIM:616455
HP:0000006	Autosomal dominant inheritance	526	ATP6V1B2	OMIM:124480
HP:0000006	Autosomal dominant inheritance	1991	ELANE	OMIM:162800
HP:0000006	Autosomal dominant inheritance	1991	ELANE	OMIM:202700
HP:0000006	Autosomal dominant inheritance	146057	TTBK2	OMIM:604432
HP:0000006	Autosomal dominant inheritance	51083	GAL	OMIM:616461
HP:0000006	Autosomal dominant inheritance	55870	ASH1L	OMIM:617796
HP:0000006	Autosomal dominant inheritance	25885	POLR1A	OMIM:616462
HP:0000006	Autosomal dominant inheritance	816	CAMK2B	OMIM:617799
HP:0000006	Autosomal dominant inheritance	79797	ZNF408	OMIM:616468
HP:0000006	Autosomal dominant inheritance	815	CAMK2A	OMIM:617798
HP:0000006	Autosomal dominant inheritance	1441	CSF3R	OMIM:162830
HP:0000006	Autosomal dominant inheritance	861	RUNX1	OMIM:601399
HP:0000006	Autosomal dominant inheritance	861	RUNX1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	1303	COL12A1	OMIM:616471
HP:0000006	Autosomal dominant inheritance	1303	COL12A1	OMIM:616470
HP:0000006	Autosomal dominant inheritance	84173	ELMOD3	OMIM:619500
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:225250
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:187500
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:614432
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:614435
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:108900
HP:0000006	Autosomal dominant inheritance	2783	GNB2	OMIM:619503
HP:0000006	Autosomal dominant inheritance	2783	GNB2	OMIM:619464
HP:0000006	Autosomal dominant inheritance	26057	ANKRD17	OMIM:619504
HP:0000006	Autosomal dominant inheritance	9051	PSTPIP1	OMIM:604416
HP:0000006	Autosomal dominant inheritance	10594	PRPF8	OMIM:600059
HP:0000006	Autosomal dominant inheritance	10043	TOM1	OMIM:619510
HP:0000006	Autosomal dominant inheritance	1182	CLCN3	OMIM:619512
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:114300
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:248700
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:108145
HP:0000006	Autosomal dominant inheritance	1763	DNA2	OMIM:615156
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:170400
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:188580
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:601887
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:620246
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:616489
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:180860
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:130650
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:194070
HP:0000006	Autosomal dominant inheritance	57863	CADM3	OMIM:619519
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:604403
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:619317
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:607208
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:609634
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:604400
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:614302
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:619832
HP:0000006	Autosomal dominant inheritance	10021	HCN4	OMIM:619521
HP:0000006	Autosomal dominant inheritance	10021	HCN4	OMIM:163800
HP:0000006	Autosomal dominant inheritance	7750	ZMYM2	OMIM:619522
HP:0000006	Autosomal dominant inheritance	4669	NAGLU	OMIM:616491
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:125852
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:613370
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:616214
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:618858
HP:0000006	Autosomal dominant inheritance	6934	TCF7L2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:125851
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:602485
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:125850
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:616026
HP:0000006	Autosomal dominant inheritance	3569	IL6	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3569	IL6	OMIM:148000
HP:0000006	Autosomal dominant inheritance	3990	LIPC	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:142330
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:600496
HP:0000006	Autosomal dominant inheritance	9479	MAPK8IP1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	56729	RETN	OMIM:125853
HP:0000006	Autosomal dominant inheritance	4544	MTNR1B	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5506	PPP1R3A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:600965
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:116400
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:614296
HP:0000006	Autosomal dominant inheritance	10644	IGF2BP2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:615522
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:601665
HP:0000006	Autosomal dominant inheritance	5770	PTPN1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	8660	IRS2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3159	HMGA1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:612225
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:612227
HP:0000006	Autosomal dominant inheritance	3667	IRS1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:604367
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:601665
HP:0000006	Autosomal dominant inheritance	169026	SLC30A8	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2820	GPD2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:616329
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:618856
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:610582
HP:0000006	Autosomal dominant inheritance	6514	SLC2A2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2542	SLC37A4	OMIM:619525
HP:0000006	Autosomal dominant inheritance	1690	COCH	OMIM:601369
HP:0000006	Autosomal dominant inheritance	57479	PRR12	OMIM:619539
HP:0000006	Autosomal dominant inheritance	79651	RHBDF2	OMIM:148500
HP:0000006	Autosomal dominant inheritance	3551	IKBKB	OMIM:618204
HP:0000006	Autosomal dominant inheritance	1107	CHD3	OMIM:618205
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:612908
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:615821
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:607450
HP:0000006	Autosomal dominant inheritance	351	APP	OMIM:605714
HP:0000006	Autosomal dominant inheritance	351	APP	OMIM:104300
HP:0000006	Autosomal dominant inheritance	6595	SMARCA2	OMIM:601358
HP:0000006	Autosomal dominant inheritance	6595	SMARCA2	OMIM:619293
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:619542
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:145600
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:117000
HP:0000006	Autosomal dominant inheritance	59345	GNB4	OMIM:615185
HP:0000006	Autosomal dominant inheritance	1419	CRYGB	OMIM:615188
HP:0000006	Autosomal dominant inheritance	2271	FH	OMIM:150800
HP:0000006	Autosomal dominant inheritance	6857	SYT1	OMIM:618218
HP:0000006	Autosomal dominant inheritance	51750	RTEL1	OMIM:615190
HP:0000006	Autosomal dominant inheritance	51750	RTEL1	OMIM:616373
HP:0000006	Autosomal dominant inheritance	6909	TBX2	OMIM:618223
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:261740
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:600858
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:194200
HP:0000006	Autosomal dominant inheritance	87	ACTN1	OMIM:615193
HP:0000006	Autosomal dominant inheritance	30000	TNPO2	OMIM:619556
HP:0000006	Autosomal dominant inheritance	359	AQP2	OMIM:125800
HP:0000006	Autosomal dominant inheritance	4179	CD46	OMIM:612922
HP:0000006	Autosomal dominant inheritance	629	CFB	OMIM:612924
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:259420
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166710
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:130060
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:114000
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:619115
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166210
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166220
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166200
HP:0000006	Autosomal dominant inheritance	3426	CFI	OMIM:612923
HP:0000006	Autosomal dominant inheritance	3426	CFI	OMIM:615439
HP:0000006	Autosomal dominant inheritance	7056	THBD	OMIM:612926
HP:0000006	Autosomal dominant inheritance	7056	THBD	OMIM:614486
HP:0000006	Autosomal dominant inheritance	718	C3	OMIM:612925
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:600001
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:187500
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:614474
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:614475
HP:0000006	Autosomal dominant inheritance	80114	BICC1	OMIM:601331
HP:0000006	Autosomal dominant inheritance	7555	CNBP	OMIM:602668
HP:0000006	Autosomal dominant inheritance	10659	CELF2	OMIM:619561
HP:0000006	Autosomal dominant inheritance	7846	TUBA1A	OMIM:611603
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:601321
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:162210
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:162200
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:193520
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:607785
HP:0000006	Autosomal dominant inheritance	57551	TAOK1	OMIM:619575
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:137800
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:167000
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:211980
HP:0000006	Autosomal dominant inheritance	3417	IDH1	OMIM:137800
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:619574
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:187500
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:118450
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:617992
HP:0000006	Autosomal dominant inheritance	7170	TPM3	OMIM:609284
HP:0000006	Autosomal dominant inheritance	7170	TPM3	OMIM:255310
HP:0000006	Autosomal dominant inheritance	7169	TPM2	OMIM:609285
HP:0000006	Autosomal dominant inheritance	7169	TPM2	OMIM:108120
HP:0000006	Autosomal dominant inheritance	291	SLC25A4	OMIM:609283
HP:0000006	Autosomal dominant inheritance	291	SLC25A4	OMIM:617184
HP:0000006	Autosomal dominant inheritance	55975	KLHL7	OMIM:612943
HP:0000006	Autosomal dominant inheritance	56652	TWNK	OMIM:609286
HP:0000006	Autosomal dominant inheritance	2771	GNAI2	OMIM:192605
HP:0000006	Autosomal dominant inheritance	2898	GRIK2	OMIM:619580
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:192600
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:613251
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:613252
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:614089
HP:0000006	Autosomal dominant inheritance	85366	MYLK2	OMIM:192600
HP:0000006	Autosomal dominant inheritance	2070	EYA4	OMIM:601316
HP:0000006	Autosomal dominant inheritance	2070	EYA4	OMIM:605362
HP:0000006	Autosomal dominant inheritance	4647	MYO7A	OMIM:601317
HP:0000006	Autosomal dominant inheritance	390594	KBTBD13	OMIM:609273
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:124500
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:602540
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:149200
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:148210
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:601544
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:148350
HP:0000006	Autosomal dominant inheritance	23384	SPECC1L	OMIM:145420
HP:0000006	Autosomal dominant inheritance	23384	SPECC1L	OMIM:600251
HP:0000006	Autosomal dominant inheritance	151516	ASPRV1	OMIM:146750
HP:0000006	Autosomal dominant inheritance	6640	SNTA1	OMIM:612955
HP:0000006	Autosomal dominant inheritance	4990	SIX6	OMIM:206900
HP:0000006	Autosomal dominant inheritance	6657	SOX2	OMIM:206900
HP:0000006	Autosomal dominant inheritance	9531	BAG3	OMIM:612954
HP:0000006	Autosomal dominant inheritance	9531	BAG3	OMIM:613881
HP:0000006	Autosomal dominant inheritance	1804	DPP6	OMIM:612956
HP:0000006	Autosomal dominant inheritance	1804	DPP6	OMIM:616311
HP:0000006	Autosomal dominant inheritance	7225	TRPC6	OMIM:603965
HP:0000006	Autosomal dominant inheritance	7068	THRB	OMIM:188570
HP:0000006	Autosomal dominant inheritance	7068	THRB	OMIM:145650
HP:0000006	Autosomal dominant inheritance	55229	PANK4	OMIM:619593
HP:0000006	Autosomal dominant inheritance	9423	NTN1	OMIM:618264
HP:0000006	Autosomal dominant inheritance	5530	PPP3CA	OMIM:618265
HP:0000006	Autosomal dominant inheritance	5530	PPP3CA	OMIM:617711
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:609260
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:601152
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:151800
HP:0000006	Autosomal dominant inheritance	2254	FGF9	OMIM:612961
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:611638
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:147250
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:142945
HP:0000006	Autosomal dominant inheritance	2312	FLG	OMIM:146700
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:239850
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:608569
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:614050
HP:0000006	Autosomal dominant inheritance	8204	NRIP1	OMIM:618270
HP:0000006	Autosomal dominant inheritance	79776	ZFHX4	OMIM:178300
HP:0000006	Autosomal dominant inheritance	5375	PMP2	OMIM:618279
HP:0000006	Autosomal dominant inheritance	22983	MAST1	OMIM:618273
HP:0000006	Autosomal dominant inheritance	55145	THAP1	OMIM:602629
HP:0000006	Autosomal dominant inheritance	745	MYRF	OMIM:618280
HP:0000006	Autosomal dominant inheritance	745	MYRF	OMIM:618113
HP:0000006	Autosomal dominant inheritance	3549	IHH	OMIM:112500
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:188550
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:118700
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:610978
HP:0000006	Autosomal dominant inheritance	777	CACNA1E	OMIM:618285
HP:0000006	Autosomal dominant inheritance	4781	NFIB	OMIM:618286
HP:0000006	Autosomal dominant inheritance	3851	KRT4	OMIM:193900
HP:0000006	Autosomal dominant inheritance	5970	RELA	OMIM:618287
HP:0000006	Autosomal dominant inheritance	26580	BSCL2	OMIM:270685
HP:0000006	Autosomal dominant inheritance	26580	BSCL2	OMIM:619112
HP:0000006	Autosomal dominant inheritance	221692	PHACTR1	OMIM:618298
HP:0000006	Autosomal dominant inheritance	23224	SYNE2	OMIM:612999
HP:0000006	Autosomal dominant inheritance	23345	SYNE1	OMIM:612998
HP:0000006	Autosomal dominant inheritance	10262	SF3B4	OMIM:154400
HP:0000006	Autosomal dominant inheritance	375	ARF1	OMIM:618185
HP:0000006	Autosomal dominant inheritance	2100	ESR2	OMIM:618187
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:615911
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:615048
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:616209
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:611554
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:611553
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:615916
HP:0000006	Autosomal dominant inheritance	6338	SCNN1B	OMIM:211400
HP:0000006	Autosomal dominant inheritance	6338	SCNN1B	OMIM:177200
HP:0000006	Autosomal dominant inheritance	79755	ZNF750	OMIM:610227
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:176670
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:610140
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:613205
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:151660
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:181350
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:212112
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:115200
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:619793
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:186000
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:113300
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:186300
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:113200
HP:0000006	Autosomal dominant inheritance	2050	EPHB4	OMIM:618196
HP:0000006	Autosomal dominant inheritance	2050	EPHB4	OMIM:617300
HP:0000006	Autosomal dominant inheritance	9128	PRPF4	OMIM:615922
HP:0000006	Autosomal dominant inheritance	4882	NPR2	OMIM:615923
HP:0000006	Autosomal dominant inheritance	4882	NPR2	OMIM:616255
HP:0000006	Autosomal dominant inheritance	2693	GHSR	OMIM:615925
HP:0000006	Autosomal dominant inheritance	2022	ENG	OMIM:187300
HP:0000006	Autosomal dominant inheritance	1687	GSDME	OMIM:600994
HP:0000006	Autosomal dominant inheritance	1427	CRYGS	OMIM:116100
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:155755
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:606719
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:155601
HP:0000006	Autosomal dominant inheritance	118813	ZFYVE27	OMIM:610244
HP:0000006	Autosomal dominant inheritance	340061	STING1	OMIM:615934
HP:0000006	Autosomal dominant inheritance	5173	PDYN	OMIM:610245
HP:0000006	Autosomal dominant inheritance	10939	AFG3L2	OMIM:610246
HP:0000006	Autosomal dominant inheritance	10939	AFG3L2	OMIM:618977
HP:0000006	Autosomal dominant inheritance	10000	AKT3	OMIM:615937
HP:0000006	Autosomal dominant inheritance	894	CCND2	OMIM:615938
HP:0000006	Autosomal dominant inheritance	8289	ARID1A	OMIM:614607
HP:0000006	Autosomal dominant inheritance	3849	KRT2	OMIM:146800
HP:0000006	Autosomal dominant inheritance	6597	SMARCA4	OMIM:614609
HP:0000006	Autosomal dominant inheritance	6597	SMARCA4	OMIM:613325
HP:0000006	Autosomal dominant inheritance	4212	MEIS2	OMIM:600987
HP:0000006	Autosomal dominant inheritance	217	ALDH2	OMIM:610251
HP:0000006	Autosomal dominant inheritance	79813	EHMT1	OMIM:610253
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:611584
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:609136
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:613266
HP:0000006	Autosomal dominant inheritance	5144	PDE4D	OMIM:614613
HP:0000006	Autosomal dominant inheritance	1600	DAB1	OMIM:615945
HP:0000006	Autosomal dominant inheritance	388551	CEACAM16	OMIM:614614
HP:0000006	Autosomal dominant inheritance	4582	MUC1	OMIM:174000
HP:0000006	Autosomal dominant inheritance	9152	SLC6A5	OMIM:614618
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:218040
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:109800
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:188470
HP:0000006	Autosomal dominant inheritance	283375	SLC39A5	OMIM:615946
HP:0000006	Autosomal dominant inheritance	2984	GUCY2C	OMIM:614616
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:109800
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:180200
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:182280
HP:0000006	Autosomal dominant inheritance	4292	MLH1	OMIM:609310
HP:0000006	Autosomal dominant inheritance	4292	MLH1	OMIM:158320
HP:0000006	Autosomal dominant inheritance	2335	FN1	OMIM:184255
HP:0000006	Autosomal dominant inheritance	2335	FN1	OMIM:601894
HP:0000006	Autosomal dominant inheritance	1938	EEF2	OMIM:609306
HP:0000006	Autosomal dominant inheritance	83394	PITPNM3	OMIM:600977
HP:0000006	Autosomal dominant inheritance	6774	STAT3	OMIM:615952
HP:0000006	Autosomal dominant inheritance	6774	STAT3	OMIM:147060
HP:0000006	Autosomal dominant inheritance	8419	BFSP2	OMIM:611597
HP:0000006	Autosomal dominant inheritance	79798	ARMC5	OMIM:615954
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:129400
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:604292
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:603543
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:106260
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:103285
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:605289
HP:0000006	Autosomal dominant inheritance	60481	ELOVL5	OMIM:615957
HP:0000006	Autosomal dominant inheritance	1299	COL9A3	OMIM:600969
HP:0000006	Autosomal dominant inheritance	2908	NR3C1	OMIM:615962
HP:0000006	Autosomal dominant inheritance	7148	TNXB	OMIM:615963
HP:0000006	Autosomal dominant inheritance	488	ATP2A2	OMIM:101900
HP:0000006	Autosomal dominant inheritance	488	ATP2A2	OMIM:124200
HP:0000006	Autosomal dominant inheritance	6231	RPS26	OMIM:613309
HP:0000006	Autosomal dominant inheritance	6204	RPS10	OMIM:613308
HP:0000006	Autosomal dominant inheritance	7369	UMOD	OMIM:162000
HP:0000006	Autosomal dominant inheritance	174	AFP	OMIM:615970
HP:0000006	Autosomal dominant inheritance	23554	TSPAN12	OMIM:613310
HP:0000006	Autosomal dominant inheritance	26022	TMEM98	OMIM:615972
HP:0000006	Autosomal dominant inheritance	3459	IFNGR1	OMIM:615978
HP:0000006	Autosomal dominant inheritance	611	OPN1SW	OMIM:190900
HP:0000006	Autosomal dominant inheritance	27429	HTRA2	OMIM:610297
HP:0000006	Autosomal dominant inheritance	5054	SERPINE1	OMIM:613329
HP:0000006	Autosomal dominant inheritance	10382	TUBB4A	OMIM:128101
HP:0000006	Autosomal dominant inheritance	10382	TUBB4A	OMIM:612438
HP:0000006	Autosomal dominant inheritance	1861	TOR1A	OMIM:128100
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:235400
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:609814
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:126700
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:610698
HP:0000006	Autosomal dominant inheritance	3078	CFHR1	OMIM:235400
HP:0000006	Autosomal dominant inheritance	3078	CFHR1	OMIM:603075
HP:0000006	Autosomal dominant inheritance	10878	CFHR3	OMIM:235400
HP:0000006	Autosomal dominant inheritance	10878	CFHR3	OMIM:603075
HP:0000006	Autosomal dominant inheritance	51621	KLF13	OMIM:612001
HP:0000006	Autosomal dominant inheritance	1139	CHRNA7	OMIM:612001
HP:0000006	Autosomal dominant inheritance	3290	HSD11B1	OMIM:614662
HP:0000006	Autosomal dominant inheritance	213	ALB	OMIM:615999
HP:0000006	Autosomal dominant inheritance	5332	PLCB4	OMIM:614669
HP:0000006	Autosomal dominant inheritance	54205	CYCS	OMIM:612004
HP:0000006	Autosomal dominant inheritance	85358	SHANK3	OMIM:606232
HP:0000006	Autosomal dominant inheritance	85358	SHANK3	OMIM:613950
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:608895
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:614434
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:619764
HP:0000006	Autosomal dominant inheritance	4920	ROR2	OMIM:113000
HP:0000006	Autosomal dominant inheritance	6731	SRP72	OMIM:614675
HP:0000006	Autosomal dominant inheritance	287	ANK2	OMIM:600919
HP:0000006	Autosomal dominant inheritance	3350	HTR1A	OMIM:614674
HP:0000006	Autosomal dominant inheritance	387700	SLC16A12	OMIM:612018
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:135290
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:619182
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:175100
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:607554
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:130650
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:192500
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:609621
HP:0000006	Autosomal dominant inheritance	78987	CRELD1	OMIM:606217
HP:0000006	Autosomal dominant inheritance	7784	ZP3	OMIM:617712
HP:0000006	Autosomal dominant inheritance	79628	SH3TC2	OMIM:613353
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:608874
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:189500
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:106600
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:607541
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:122200
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:121820
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:608470
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:608471
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:121900
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:602082
HP:0000006	Autosomal dominant inheritance	7453	WARS1	OMIM:617721
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:185500
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:123700
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:194050
HP:0000006	Autosomal dominant inheritance	8988	HSPB3	OMIM:613376
HP:0000006	Autosomal dominant inheritance	640	BLK	OMIM:613375
HP:0000006	Autosomal dominant inheritance	84617	TUBB6	OMIM:617732
HP:0000006	Autosomal dominant inheritance	162514	TRPV3	OMIM:616400
HP:0000006	Autosomal dominant inheritance	162514	TRPV3	OMIM:614594
HP:0000006	Autosomal dominant inheritance	1917	EEF1A2	OMIM:616409
HP:0000006	Autosomal dominant inheritance	1917	EEF1A2	OMIM:616393
HP:0000006	Autosomal dominant inheritance	7222	TRPC3	OMIM:616410
HP:0000006	Autosomal dominant inheritance	5744	PTHLH	OMIM:613382
HP:0000006	Autosomal dominant inheritance	1314	COPA	OMIM:616414
HP:0000006	Autosomal dominant inheritance	9213	XPR1	OMIM:616413
HP:0000006	Autosomal dominant inheritance	4780	NFE2L2	OMIM:617744
HP:0000006	Autosomal dominant inheritance	54805	CNNM2	OMIM:616418
HP:0000006	Autosomal dominant inheritance	54805	CNNM2	OMIM:613882
HP:0000006	Autosomal dominant inheritance	10342	TFG	OMIM:604484
HP:0000006	Autosomal dominant inheritance	4626	MYH8	OMIM:608837
HP:0000006	Autosomal dominant inheritance	4626	MYH8	OMIM:158300
HP:0000006	Autosomal dominant inheritance	6529	SLC6A1	OMIM:616421
HP:0000006	Autosomal dominant inheritance	9320	TRIP12	OMIM:617752
HP:0000006	Autosomal dominant inheritance	5879	RAC1	OMIM:617751
HP:0000006	Autosomal dominant inheritance	2186	BPTF	OMIM:617755
HP:0000006	Autosomal dominant inheritance	23435	TARDBP	OMIM:612069
HP:0000006	Autosomal dominant inheritance	5950	RBP4	OMIM:616428
HP:0000006	Autosomal dominant inheritance	4148	MATN3	OMIM:140600
HP:0000006	Autosomal dominant inheritance	4148	MATN3	OMIM:607078
HP:0000006	Autosomal dominant inheritance	56606	SLC2A9	OMIM:612076
HP:0000006	Autosomal dominant inheritance	5649	RELN	OMIM:616436
HP:0000006	Autosomal dominant inheritance	5649	RELN	OMIM:600512
HP:0000006	Autosomal dominant inheritance	359948	IRF2BP2	OMIM:617765
HP:0000006	Autosomal dominant inheritance	29110	TBK1	OMIM:616439
HP:0000006	Autosomal dominant inheritance	29110	TBK1	OMIM:617900
HP:0000006	Autosomal dominant inheritance	2196	FAT2	OMIM:617769
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:616437
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:167250
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:617158
HP:0000006	Autosomal dominant inheritance	58508	KMT2C	OMIM:617768
HP:0000006	Autosomal dominant inheritance	8074	FGF23	OMIM:193100
HP:0000006	Autosomal dominant inheritance	6647	SOD1	OMIM:105400
HP:0000006	Autosomal dominant inheritance	5630	PRPH	OMIM:105400
HP:0000006	Autosomal dominant inheritance	4744	NEFH	OMIM:105400
HP:0000006	Autosomal dominant inheritance	4744	NEFH	OMIM:616924
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:102370
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:604308
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:154700
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:129600
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:616914
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:614185
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:184900
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:608328
HP:0000006	Autosomal dominant inheritance	1144	CHRND	OMIM:616321
HP:0000006	Autosomal dominant inheritance	6777	STAT5B	OMIM:618985
HP:0000006	Autosomal dominant inheritance	5880	RAC2	OMIM:618986
HP:0000006	Autosomal dominant inheritance	5880	RAC2	OMIM:608203
HP:0000006	Autosomal dominant inheritance	5521	PPP2R2B	OMIM:604326
HP:0000006	Autosomal dominant inheritance	3872	KRT17	OMIM:184500
HP:0000006	Autosomal dominant inheritance	3872	KRT17	OMIM:167210
HP:0000006	Autosomal dominant inheritance	374462	PTPRQ	OMIM:617663
HP:0000006	Autosomal dominant inheritance	6616	SNAP25	OMIM:616330
HP:0000006	Autosomal dominant inheritance	57582	KCNT1	OMIM:615005
HP:0000006	Autosomal dominant inheritance	57582	KCNT1	OMIM:614959
HP:0000006	Autosomal dominant inheritance	7532	YWHAG	OMIM:617665
HP:0000006	Autosomal dominant inheritance	55690	PACS1	OMIM:615009
HP:0000006	Autosomal dominant inheritance	3716	JAK1	OMIM:618999
HP:0000006	Autosomal dominant inheritance	219285	SAMD9L	OMIM:159550
HP:0000006	Autosomal dominant inheritance	219285	SAMD9L	OMIM:619806
HP:0000006	Autosomal dominant inheritance	9885	OSBPL2	OMIM:616340
HP:0000006	Autosomal dominant inheritance	55154	MSTO1	OMIM:617675
HP:0000006	Autosomal dominant inheritance	7343	UBTF	OMIM:617672
HP:0000006	Autosomal dominant inheritance	150094	SIK1	OMIM:616341
HP:0000006	Autosomal dominant inheritance	1759	DNM1	OMIM:616346
HP:0000006	Autosomal dominant inheritance	6100	RP9	OMIM:180104
HP:0000006	Autosomal dominant inheritance	3614	IMPDH1	OMIM:180105
HP:0000006	Autosomal dominant inheritance	3614	IMPDH1	OMIM:613837
HP:0000006	Autosomal dominant inheritance	4620	MYH2	OMIM:605637
HP:0000006	Autosomal dominant inheritance	1420	CRYGC	OMIM:604307
HP:0000006	Autosomal dominant inheritance	6926	TBX3	OMIM:181450
HP:0000006	Autosomal dominant inheritance	10087	CERT1	OMIM:616351
HP:0000006	Autosomal dominant inheritance	1105	CHD1	OMIM:617682
HP:0000006	Autosomal dominant inheritance	1500	CTNND1	OMIM:617681
HP:0000006	Autosomal dominant inheritance	5528	PPP2R5D	OMIM:616355
HP:0000006	Autosomal dominant inheritance	1428	CRYM	OMIM:616357
HP:0000006	Autosomal dominant inheritance	55526	DHTKD1	OMIM:615025
HP:0000006	Autosomal dominant inheritance	55065	SLC52A1	OMIM:615026
HP:0000006	Autosomal dominant inheritance	26040	SETBP1	OMIM:269150
HP:0000006	Autosomal dominant inheritance	26040	SETBP1	OMIM:616078
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:185800
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:611377
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:184460
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:186570
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:186500
HP:0000006	Autosomal dominant inheritance	5518	PPP2R1A	OMIM:616362
HP:0000006	Autosomal dominant inheritance	2153	F5	OMIM:188055
HP:0000006	Autosomal dominant inheritance	2153	F5	OMIM:614389
HP:0000006	Autosomal dominant inheritance	2911	GRM1	OMIM:617691
HP:0000006	Autosomal dominant inheritance	7450	VWF	OMIM:193400
HP:0000006	Autosomal dominant inheritance	7450	VWF	OMIM:613554
HP:0000006	Autosomal dominant inheritance	3737	KCNA2	OMIM:616366
HP:0000006	Autosomal dominant inheritance	63982	ANO3	OMIM:615034
HP:0000006	Autosomal dominant inheritance	23126	POGZ	OMIM:616364
HP:0000006	Autosomal dominant inheritance	57680	CHD8	OMIM:615032
HP:0000006	Autosomal dominant inheritance	2162	F13A1	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2147	F2	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2147	F2	OMIM:614390
HP:0000006	Autosomal dominant inheritance	4524	MTHFR	OMIM:188050
HP:0000006	Autosomal dominant inheritance	4524	MTHFR	OMIM:181500
HP:0000006	Autosomal dominant inheritance	27125	AFF4	OMIM:616368
HP:0000006	Autosomal dominant inheritance	1909	EDNRA	OMIM:616367
HP:0000006	Autosomal dominant inheritance	1909	EDNRA	OMIM:157300
HP:0000006	Autosomal dominant inheritance	58	ACTA1	OMIM:161800
HP:0000006	Autosomal dominant inheritance	58	ACTA1	OMIM:616852
HP:0000006	Autosomal dominant inheritance	6101	RP1	OMIM:180100
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:602588
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:166780
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:113650
HP:0000006	Autosomal dominant inheritance	5073	PARN	OMIM:616371
HP:0000006	Autosomal dominant inheritance	7075	TIE1	OMIM:619401
HP:0000006	Autosomal dominant inheritance	8989	TRPA1	OMIM:615040
HP:0000006	Autosomal dominant inheritance	80206	FHOD3	OMIM:619402
HP:0000006	Autosomal dominant inheritance	326	AIRE	OMIM:240300
HP:0000006	Autosomal dominant inheritance	5741	PTH	OMIM:146200
HP:0000006	Autosomal dominant inheritance	6635	SNRPE	OMIM:615059
HP:0000006	Autosomal dominant inheritance	6578	SLCO2A1	OMIM:167100
HP:0000006	Autosomal dominant inheritance	5959	RDH5	OMIM:136880
HP:0000006	Autosomal dominant inheritance	6017	RLBP1	OMIM:136880
HP:0000006	Autosomal dominant inheritance	3752	KCND3	OMIM:616399
HP:0000006	Autosomal dominant inheritance	3752	KCND3	OMIM:607346
HP:0000006	Autosomal dominant inheritance	79734	KCTD17	OMIM:616398
HP:0000006	Autosomal dominant inheritance	2202	EFEMP1	OMIM:126600
HP:0000006	Autosomal dominant inheritance	7227	TRPS1	OMIM:190350
HP:0000006	Autosomal dominant inheritance	7227	TRPS1	OMIM:190351
HP:0000006	Autosomal dominant inheritance	7046	TGFBR1	OMIM:609192
HP:0000006	Autosomal dominant inheritance	7046	TGFBR1	OMIM:132800
HP:0000006	Autosomal dominant inheritance	1642	DDB1	OMIM:619426
HP:0000006	Autosomal dominant inheritance	81603	TRIM8	OMIM:619428
HP:0000006	Autosomal dominant inheritance	8322	FZD4	OMIM:133780
HP:0000006	Autosomal dominant inheritance	57459	GATAD2B	OMIM:615074
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:615075
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:617572
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:155255
HP:0000006	Autosomal dominant inheritance	2774	GNAL	OMIM:615073
HP:0000006	Autosomal dominant inheritance	56896	DPYSL5	OMIM:619435
HP:0000006	Autosomal dominant inheritance	72	ACTG2	OMIM:619431
HP:0000006	Autosomal dominant inheritance	72	ACTG2	OMIM:155310
HP:0000006	Autosomal dominant inheritance	6418	SET	OMIM:618106
HP:0000006	Autosomal dominant inheritance	22806	IKZF3	OMIM:619437
HP:0000006	Autosomal dominant inheritance	9842	PLEKHM1	OMIM:618107
HP:0000006	Autosomal dominant inheritance	4838	NODAL	OMIM:270100
HP:0000006	Autosomal dominant inheritance	317719	KLHL10	OMIM:615081
HP:0000006	Autosomal dominant inheritance	6299	SALL1	OMIM:107480
HP:0000006	Autosomal dominant inheritance	1747	DLX3	OMIM:190320
HP:0000006	Autosomal dominant inheritance	1747	DLX3	OMIM:104510
HP:0000006	Autosomal dominant inheritance	5426	POLE	OMIM:615083
HP:0000006	Autosomal dominant inheritance	6340	SCNN1G	OMIM:618114
HP:0000006	Autosomal dominant inheritance	6340	SCNN1G	OMIM:613071
HP:0000006	Autosomal dominant inheritance	402381	SOHLH1	OMIM:618115
HP:0000006	Autosomal dominant inheritance	3064	HTT	OMIM:143100
HP:0000006	Autosomal dominant inheritance	23405	DICER1	OMIM:601200
HP:0000006	Autosomal dominant inheritance	23405	DICER1	OMIM:138800
HP:0000006	Autosomal dominant inheritance	57534	MIB1	OMIM:615092
HP:0000006	Autosomal dominant inheritance	6337	SCNN1A	OMIM:618126
HP:0000006	Autosomal dominant inheritance	6337	SCNN1A	OMIM:613021
HP:0000006	Autosomal dominant inheritance	3756	KCNH1	OMIM:135500
HP:0000006	Autosomal dominant inheritance	3756	KCNH1	OMIM:611816
HP:0000006	Autosomal dominant inheritance	8622	PDE8B	OMIM:609161
HP:0000006	Autosomal dominant inheritance	8622	PDE8B	OMIM:614190
HP:0000006	Autosomal dominant inheritance	825	CAPN3	OMIM:618129
HP:0000006	Autosomal dominant inheritance	6045	RNF2	OMIM:619460
HP:0000006	Autosomal dominant inheritance	4627	MYH9	OMIM:155100
HP:0000006	Autosomal dominant inheritance	4627	MYH9	OMIM:603622
HP:0000006	Autosomal dominant inheritance	22852	ANKRD26	OMIM:188000
HP:0000006	Autosomal dominant inheritance	164	AP1G1	OMIM:619467
HP:0000006	Autosomal dominant inheritance	1814	DRD3	OMIM:190300
HP:0000006	Autosomal dominant inheritance	1814	DRD3	OMIM:181500
HP:0000006	Autosomal dominant inheritance	7253	TSHR	OMIM:609152
HP:0000006	Autosomal dominant inheritance	7253	TSHR	OMIM:603373
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:609153
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:614497
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:615402
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:612838
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:604233
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:615377
HP:0000006	Autosomal dominant inheritance	5137	PDE1C	OMIM:618140
HP:0000006	Autosomal dominant inheritance	8812	CCNK	OMIM:618147
HP:0000006	Autosomal dominant inheritance	3236	HOXD10	OMIM:192950
HP:0000006	Autosomal dominant inheritance	23316	CUX2	OMIM:618141
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:619473
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:618866
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:603472
HP:0000006	Autosomal dominant inheritance	6711	SPTBN1	OMIM:619475
HP:0000006	Autosomal dominant inheritance	6935	ZEB1	OMIM:609141
HP:0000006	Autosomal dominant inheritance	1296	COL8A2	OMIM:609140
HP:0000006	Autosomal dominant inheritance	1296	COL8A2	OMIM:136800
HP:0000006	Autosomal dominant inheritance	79574	EPS8L3	OMIM:612841
HP:0000006	Autosomal dominant inheritance	4436	MSH2	OMIM:120435
HP:0000006	Autosomal dominant inheritance	4436	MSH2	OMIM:158320
HP:0000006	Autosomal dominant inheritance	5378	PMS1	OMIM:120435
HP:0000006	Autosomal dominant inheritance	10413	YAP1	OMIM:120433
HP:0000006	Autosomal dominant inheritance	11198	SUPT16H	OMIM:619480
HP:0000006	Autosomal dominant inheritance	1412	CRYBA2	OMIM:115900
HP:0000006	Autosomal dominant inheritance	25839	COG4	OMIM:618150
HP:0000006	Autosomal dominant inheritance	5058	PAK1	OMIM:618158
HP:0000006	Autosomal dominant inheritance	23385	NCSTN	OMIM:142690
HP:0000006	Autosomal dominant inheritance	3145	HMBS	OMIM:176000
HP:0000006	Autosomal dominant inheritance	3728	JUP	OMIM:611528
HP:0000006	Autosomal dominant inheritance	3921	RPSA	OMIM:271400
HP:0000006	Autosomal dominant inheritance	5660	PSAP	OMIM:619491
HP:0000006	Autosomal dominant inheritance	25978	CHMP2B	OMIM:600795
HP:0000006	Autosomal dominant inheritance	81624	DIAPH3	OMIM:609129
HP:0000006	Autosomal dominant inheritance	5745	PTH1R	OMIM:156400
HP:0000006	Autosomal dominant inheritance	5745	PTH1R	OMIM:125350
HP:0000006	Autosomal dominant inheritance	4221	MEN1	OMIM:131100
HP:0000006	Autosomal dominant inheritance	84231	TRAF7	OMIM:618164
HP:0000006	Autosomal dominant inheritance	116519	APOA5	OMIM:145750
HP:0000006	Autosomal dominant inheritance	116519	APOA5	OMIM:144650
HP:0000006	Autosomal dominant inheritance	4094	MAF	OMIM:610202
HP:0000006	Autosomal dominant inheritance	4094	MAF	OMIM:601088
HP:0000006	Autosomal dominant inheritance	4853	NOTCH2	OMIM:610205
HP:0000006	Autosomal dominant inheritance	4853	NOTCH2	OMIM:102500
HP:0000006	Autosomal dominant inheritance	403	ARL3	OMIM:618173
HP:0000006	Autosomal dominant inheritance	4921	DDR2	OMIM:618175
HP:0000006	Autosomal dominant inheritance	4327	MMP19	OMIM:611543
HP:0000006	Autosomal dominant inheritance	1414	CRYBB1	OMIM:611544
HP:0000006	Autosomal dominant inheritance	1584	CYP11B1	OMIM:103900
HP:0000006	Autosomal dominant inheritance	9987	HNRNPDL	OMIM:609115
HP:0000006	Autosomal dominant inheritance	135935	NOBOX	OMIM:611548
HP:0000006	Autosomal dominant inheritance	6235	RPS29	OMIM:615909
HP:0000006	Autosomal dominant inheritance	7424	VEGFC	OMIM:615907
HP:0000006	Autosomal dominant inheritance	6095	RORA	OMIM:618060
HP:0000006	Autosomal dominant inheritance	51726	DNAJB11	OMIM:618061
HP:0000006	Autosomal dominant inheritance	677814	SNORA31	OMIM:619396
HP:0000006	Autosomal dominant inheritance	23241	PACS2	OMIM:618067
HP:0000006	Autosomal dominant inheritance	161742	SPRED1	OMIM:611431
HP:0000006	Autosomal dominant inheritance	50717	DCAF8	OMIM:610100
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:115150
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:114500
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:211980
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:613707
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:613706
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:155600
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:163950
HP:0000006	Autosomal dominant inheritance	9839	ZEB2	OMIM:235730
HP:0000006	Autosomal dominant inheritance	1411	CRYBA1	OMIM:600881
HP:0000006	Autosomal dominant inheritance	7879	RAB7A	OMIM:600882
HP:0000006	Autosomal dominant inheritance	27327	TNRC6A	OMIM:618074
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:600886
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:606159
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:615604
HP:0000006	Autosomal dominant inheritance	9693	RAPGEF2	OMIM:618075
HP:0000006	Autosomal dominant inheritance	55765	INAVA	OMIM:618077
HP:0000006	Autosomal dominant inheritance	843	CASP10	OMIM:603909
HP:0000006	Autosomal dominant inheritance	144568	A2ML1	OMIM:166760
HP:0000006	Autosomal dominant inheritance	10225	CD96	OMIM:211750
HP:0000006	Autosomal dominant inheritance	200576	PIKFYVE	OMIM:121850
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:154780
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:604841
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:618533
HP:0000006	Autosomal dominant inheritance	6005	RHAG	OMIM:185000
HP:0000006	Autosomal dominant inheritance	6005	RHAG	OMIM:268150
HP:0000006	Autosomal dominant inheritance	8913	CACNA1G	OMIM:618087
HP:0000006	Autosomal dominant inheritance	8913	CACNA1G	OMIM:616795
HP:0000006	Autosomal dominant inheritance	64207	IRF2BPL	OMIM:618088
HP:0000006	Autosomal dominant inheritance	80204	FBXO11	OMIM:618089
HP:0000006	Autosomal dominant inheritance	23522	KAT6B	OMIM:606170
HP:0000006	Autosomal dominant inheritance	23522	KAT6B	OMIM:603736
HP:0000006	Autosomal dominant inheritance	9149	DYRK1B	OMIM:615812
HP:0000006	Autosomal dominant inheritance	5015	OTX2	OMIM:610125
HP:0000006	Autosomal dominant inheritance	5015	OTX2	OMIM:613986
HP:0000006	Autosomal dominant inheritance	9499	MYOT	OMIM:609200
HP:0000006	Autosomal dominant inheritance	10273	STUB1	OMIM:618093
HP:0000006	Autosomal dominant inheritance	64919	BCL11B	OMIM:618092
HP:0000006	Autosomal dominant inheritance	64919	BCL11B	OMIM:617237
HP:0000006	Autosomal dominant inheritance	6885	MAP3K7	OMIM:157800
HP:0000006	Autosomal dominant inheritance	6885	MAP3K7	OMIM:617137
HP:0000006	Autosomal dominant inheritance	11232	POLG2	OMIM:610131
HP:0000006	Autosomal dominant inheritance	1729	DIAPH1	OMIM:124900
HP:0000006	Autosomal dominant inheritance	55636	CHD7	OMIM:214800
HP:0000006	Autosomal dominant inheritance	55636	CHD7	OMIM:612370
HP:0000006	Autosomal dominant inheritance	1906	EDN1	OMIM:612798
HP:0000006	Autosomal dominant inheritance	10522	DEAF1	OMIM:615828
HP:0000006	Autosomal dominant inheritance	27245	AHDC1	OMIM:615829
HP:0000006	Autosomal dominant inheritance	6234	RPS28	OMIM:606164
HP:0000006	Autosomal dominant inheritance	5625	PRODH	OMIM:600850
HP:0000006	Autosomal dominant inheritance	7168	TPM1	OMIM:115196
HP:0000006	Autosomal dominant inheritance	7168	TPM1	OMIM:611878
HP:0000006	Autosomal dominant inheritance	4607	MYBPC3	OMIM:115197
HP:0000006	Autosomal dominant inheritance	4607	MYBPC3	OMIM:615396
HP:0000006	Autosomal dominant inheritance	5566	PRKACA	OMIM:615830
HP:0000006	Autosomal dominant inheritance	5566	PRKACA	OMIM:619142
HP:0000006	Autosomal dominant inheritance	26053	AUTS2	OMIM:615834
HP:0000006	Autosomal dominant inheritance	8557	TCAP	OMIM:607487
HP:0000006	Autosomal dominant inheritance	29914	UBIAD1	OMIM:121800
HP:0000006	Autosomal dominant inheritance	799	CALCR	OMIM:166710
HP:0000006	Autosomal dominant inheritance	8572	PDLIM4	OMIM:166710
HP:0000006	Autosomal dominant inheritance	2896	GRN	OMIM:607485
HP:0000006	Autosomal dominant inheritance	23095	KIF1B	OMIM:118210
HP:0000006	Autosomal dominant inheritance	23095	KIF1B	OMIM:256700
HP:0000006	Autosomal dominant inheritance	64135	IFIH1	OMIM:615846
HP:0000006	Autosomal dominant inheritance	64135	IFIH1	OMIM:182250
HP:0000006	Autosomal dominant inheritance	866	SERPINA6	OMIM:611489
HP:0000006	Autosomal dominant inheritance	2736	GLI2	OMIM:615849
HP:0000006	Autosomal dominant inheritance	2736	GLI2	OMIM:610829
HP:0000006	Autosomal dominant inheritance	9992	KCNE2	OMIM:611493
HP:0000006	Autosomal dominant inheritance	9992	KCNE2	OMIM:613693
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:614521
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:133100
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:263300
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	2146	EZH2	OMIM:277590
HP:0000006	Autosomal dominant inheritance	7048	TGFBR2	OMIM:610168
HP:0000006	Autosomal dominant inheritance	7048	TGFBR2	OMIM:614331
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:614524
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:601868
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:184840
HP:0000006	Autosomal dominant inheritance	50511	SYCP3	OMIM:270960
HP:0000006	Autosomal dominant inheritance	80331	DNAJC5	OMIM:162350
HP:0000006	Autosomal dominant inheritance	29123	ANKRD11	OMIM:148050
HP:0000006	Autosomal dominant inheritance	2303	FOXC2	OMIM:153400
HP:0000006	Autosomal dominant inheritance	6664	SOX11	OMIM:615866
HP:0000006	Autosomal dominant inheritance	339453	TMEM240	OMIM:607454
HP:0000006	Autosomal dominant inheritance	152137	CCDC50	OMIM:607453
HP:0000006	Autosomal dominant inheritance	23592	LEMD3	OMIM:166700
HP:0000006	Autosomal dominant inheritance	6524	SLC5A2	OMIM:233100
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:162300
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:142623
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:171400
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:171300
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:155240
HP:0000006	Autosomal dominant inheritance	348980	HCN1	OMIM:615871
HP:0000006	Autosomal dominant inheritance	348980	HCN1	OMIM:618482
HP:0000006	Autosomal dominant inheritance	7026	NR2F2	OMIM:618901
HP:0000006	Autosomal dominant inheritance	7026	NR2F2	OMIM:615779
HP:0000006	Autosomal dominant inheritance	154	ADRB2	OMIM:600807
HP:0000006	Autosomal dominant inheritance	154	ADRB2	OMIM:601665
HP:0000006	Autosomal dominant inheritance	240	ALOX5	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7941	PLA2G7	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7941	PLA2G7	OMIM:147050
HP:0000006	Autosomal dominant inheritance	6356	CCL11	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7124	TNF	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7124	TNF	OMIM:157300
HP:0000006	Autosomal dominant inheritance	3176	HNMT	OMIM:600807
HP:0000006	Autosomal dominant inheritance	4589	MUC7	OMIM:600807
HP:0000006	Autosomal dominant inheritance	117156	SCGB3A2	OMIM:600807
HP:0000006	Autosomal dominant inheritance	3135	HLA-G	OMIM:600807
HP:0000006	Autosomal dominant inheritance	3596	IL13	OMIM:600807
HP:0000006	Autosomal dominant inheritance	23394	ADNP	OMIM:615873
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:615879
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:618724
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:601626
HP:0000006	Autosomal dominant inheritance	10586	MAB21L2	OMIM:615877
HP:0000006	Autosomal dominant inheritance	26115	TANC2	OMIM:618906
HP:0000006	Autosomal dominant inheritance	5324	PLAG1	OMIM:618907
HP:0000006	Autosomal dominant inheritance	5324	PLAG1	OMIM:181030
HP:0000006	Autosomal dominant inheritance	8091	HMGA2	OMIM:618908
HP:0000006	Autosomal dominant inheritance	724066	ATXN8	OMIM:608768
HP:0000006	Autosomal dominant inheritance	6315	ATXN8OS	OMIM:608768
HP:0000006	Autosomal dominant inheritance	6315	ATXN8OS	OMIM:168600
HP:0000006	Autosomal dominant inheritance	1822	ATN1	OMIM:125370
HP:0000006	Autosomal dominant inheritance	1822	ATN1	OMIM:618494
HP:0000006	Autosomal dominant inheritance	1829	DSG2	OMIM:610193
HP:0000006	Autosomal dominant inheritance	5244	ABCB4	OMIM:600803
HP:0000006	Autosomal dominant inheritance	5244	ABCB4	OMIM:614972
HP:0000006	Autosomal dominant inheritance	6144	RPL21	OMIM:615885
HP:0000006	Autosomal dominant inheritance	23291	FBXW11	OMIM:618914
HP:0000006	Autosomal dominant inheritance	84876	ORAI1	OMIM:615883
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:613224
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:114500
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:614470
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:188470
HP:0000006	Autosomal dominant inheritance	4363	ABCC1	OMIM:618915
HP:0000006	Autosomal dominant inheritance	5048	PAFAH1B1	OMIM:607432
HP:0000006	Autosomal dominant inheritance	114798	SLITRK1	OMIM:613229
HP:0000006	Autosomal dominant inheritance	114798	SLITRK1	OMIM:137580
HP:0000006	Autosomal dominant inheritance	23097	CDK19	OMIM:618916
HP:0000006	Autosomal dominant inheritance	2891	GRIA2	OMIM:618917
HP:0000006	Autosomal dominant inheritance	4131	MAP1B	OMIM:618918
HP:0000006	Autosomal dominant inheritance	4131	MAP1B	OMIM:619808
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:603075
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:606889
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:104310
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:607822
HP:0000006	Autosomal dominant inheritance	83872	HMCN1	OMIM:603075
HP:0000006	Autosomal dominant inheritance	4633	MYL2	OMIM:608758
HP:0000006	Autosomal dominant inheritance	112802	KRT71	OMIM:615896
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:618924
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:613721
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:607745
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:614563
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:614228
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:158600
HP:0000006	Autosomal dominant inheritance	545	ATR	OMIM:614564
HP:0000006	Autosomal dominant inheritance	64423	INF2	OMIM:613237
HP:0000006	Autosomal dominant inheritance	64423	INF2	OMIM:614455
HP:0000006	Autosomal dominant inheritance	1000	CDH2	OMIM:618920
HP:0000006	Autosomal dominant inheritance	1000	CDH2	OMIM:618929
HP:0000006	Autosomal dominant inheritance	100134444	KCNJ18	OMIM:613239
HP:0000006	Autosomal dominant inheritance	4634	MYL3	OMIM:608751
HP:0000006	Autosomal dominant inheritance	23746	AIPL1	OMIM:604393
HP:0000006	Autosomal dominant inheritance	23746	AIPL1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	25	ABL1	OMIM:617602
HP:0000006	Autosomal dominant inheritance	4072	EPCAM	OMIM:613244
HP:0000006	Autosomal dominant inheritance	56479	KCNQ5	OMIM:617601
HP:0000006	Autosomal dominant inheritance	7134	TNNC1	OMIM:613243
HP:0000006	Autosomal dominant inheritance	7134	TNNC1	OMIM:611879
HP:0000006	Autosomal dominant inheritance	23152	CIC	OMIM:617600
HP:0000006	Autosomal dominant inheritance	80736	SLC44A4	OMIM:617606
HP:0000006	Autosomal dominant inheritance	23312	DMXL2	OMIM:617605
HP:0000006	Autosomal dominant inheritance	401138	AMTN	OMIM:617607
HP:0000006	Autosomal dominant inheritance	84172	POLR1B	OMIM:618939
HP:0000006	Autosomal dominant inheritance	60	ACTB	OMIM:243310
HP:0000006	Autosomal dominant inheritance	60	ACTB	OMIM:607371
HP:0000006	Autosomal dominant inheritance	10755	GIPC1	OMIM:618940
HP:0000006	Autosomal dominant inheritance	71	ACTG1	OMIM:614583
HP:0000006	Autosomal dominant inheritance	71	ACTG1	OMIM:604717
HP:0000006	Autosomal dominant inheritance	7414	VCL	OMIM:613255
HP:0000006	Autosomal dominant inheritance	7414	VCL	OMIM:611407
HP:0000006	Autosomal dominant inheritance	7249	TSC2	OMIM:613254
HP:0000006	Autosomal dominant inheritance	3458	IFNG	OMIM:613254
HP:0000006	Autosomal dominant inheritance	5333	PLCD1	OMIM:151600
HP:0000006	Autosomal dominant inheritance	80232	WDR26	OMIM:617616
HP:0000006	Autosomal dominant inheritance	10699	CORIN	OMIM:614595
HP:0000006	Autosomal dominant inheritance	1908	EDN3	OMIM:613265
HP:0000006	Autosomal dominant inheritance	1908	EDN3	OMIM:613712
HP:0000006	Autosomal dominant inheritance	83959	SLC4A11	OMIM:613268
HP:0000006	Autosomal dominant inheritance	2625	GATA3	OMIM:146255
HP:0000006	Autosomal dominant inheritance	6925	TCF4	OMIM:613267
HP:0000006	Autosomal dominant inheritance	6925	TCF4	OMIM:610954
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:617626
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:612431
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:616806
HP:0000006	Autosomal dominant inheritance	9371	KIF3B	OMIM:618955
HP:0000006	Autosomal dominant inheritance	9681	DEPDC5	OMIM:604364
HP:0000006	Autosomal dominant inheritance	10137	RBM12	OMIM:617629
HP:0000006	Autosomal dominant inheritance	1123	CHN1	OMIM:604356
HP:0000006	Autosomal dominant inheritance	51	ACOX1	OMIM:618960
HP:0000006	Autosomal dominant inheritance	10020	GNE	OMIM:269921
HP:0000006	Autosomal dominant inheritance	10274	STAG1	OMIM:617635
HP:0000006	Autosomal dominant inheritance	10625	IVNS1ABP	OMIM:618969
HP:0000006	Autosomal dominant inheritance	84059	ADGRV1	OMIM:604352
HP:0000006	Autosomal dominant inheritance	8864	PER2	OMIM:604348
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:136000
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:181600
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:129200
HP:0000006	Autosomal dominant inheritance	87178	PNPT1	OMIM:608703
HP:0000006	Autosomal dominant inheritance	55553	SOX6	OMIM:618971
HP:0000006	Autosomal dominant inheritance	3832	KIF11	OMIM:152950
HP:0000006	Autosomal dominant inheritance	5087	PBX1	OMIM:617641
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:613286
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:115210
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:613690
HP:0000006	Autosomal dominant inheritance	84823	LMNB2	OMIM:608709
HP:0000006	Autosomal dominant inheritance	84823	LMNB2	OMIM:619180
HP:0000006	Autosomal dominant inheritance	1140	CHRNB1	OMIM:616313
HP:0000006	Autosomal dominant inheritance	84148	KAT8	OMIM:618974
HP:0000006	Autosomal dominant inheritance	6786	STIM1	OMIM:160565
HP:0000006	Autosomal dominant inheritance	6786	STIM1	OMIM:185070
HP:0000006	Autosomal dominant inheritance	114902	C1QTNF5	OMIM:605670
HP:0000006	Autosomal dominant inheritance	5274	SERPINI1	OMIM:604218
HP:0000006	Autosomal dominant inheritance	6714	SRC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	6714	SRC	OMIM:616937
HP:0000006	Autosomal dominant inheritance	10395	DLC1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	8313	AXIN2	OMIM:114500
HP:0000006	Autosomal dominant inheritance	8313	AXIN2	OMIM:608615
HP:0000006	Autosomal dominant inheritance	5782	PTPN12	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5320	PLA2G2A	OMIM:114500
HP:0000006	Autosomal dominant inheritance	6790	AURKA	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1630	DCC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1630	DCC	OMIM:157600
HP:0000006	Autosomal dominant inheritance	581	BAX	OMIM:114500
HP:0000006	Autosomal dominant inheritance	25788	RAD54B	OMIM:114500
HP:0000006	Autosomal dominant inheritance	595	CCND1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	595	CCND1	OMIM:193300
HP:0000006	Autosomal dominant inheritance	699	BUB1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	701	BUB1B	OMIM:114500
HP:0000006	Autosomal dominant inheritance	701	BUB1B	OMIM:176430
HP:0000006	Autosomal dominant inheritance	7097	TLR2	OMIM:114500
HP:0000006	Autosomal dominant inheritance	7097	TLR2	OMIM:246300
HP:0000006	Autosomal dominant inheritance	4163	MCC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5157	PDGFRL	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5795	PTPRJ	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1409	CRYAA	OMIM:604219
HP:0000006	Autosomal dominant inheritance	4287	ATXN3	OMIM:109150
HP:0000006	Autosomal dominant inheritance	282996	RBM20	OMIM:613172
HP:0000006	Autosomal dominant inheritance	5350	PLN	OMIM:609909
HP:0000006	Autosomal dominant inheritance	5350	PLN	OMIM:613874
HP:0000006	Autosomal dominant inheritance	85446	ZFHX2	OMIM:147430
HP:0000006	Autosomal dominant inheritance	7277	TUBA4A	OMIM:616208
HP:0000006	Autosomal dominant inheritance	3008	H1-4	OMIM:617537
HP:0000006	Autosomal dominant inheritance	116931	MED12L	OMIM:618872
HP:0000006	Autosomal dominant inheritance	387119	CEP85L	OMIM:618873
HP:0000006	Autosomal dominant inheritance	64072	CDH23	OMIM:617540
HP:0000006	Autosomal dominant inheritance	2120	ETV6	OMIM:616216
HP:0000006	Autosomal dominant inheritance	2120	ETV6	OMIM:601626
HP:0000006	Autosomal dominant inheritance	10501	SEMA6B	OMIM:618876
HP:0000006	Autosomal dominant inheritance	27102	EIF2AK1	OMIM:618878
HP:0000006	Autosomal dominant inheritance	23022	PALLD	OMIM:606856
HP:0000006	Autosomal dominant inheritance	80781	COL18A1	OMIM:618880
HP:0000006	Autosomal dominant inheritance	7528	YY1	OMIM:617557
HP:0000006	Autosomal dominant inheritance	5832	ALDH18A1	OMIM:601162
HP:0000006	Autosomal dominant inheritance	5832	ALDH18A1	OMIM:616603
HP:0000006	Autosomal dominant inheritance	8726	EED	OMIM:617561
HP:0000006	Autosomal dominant inheritance	153201	SLC36A2	OMIM:138500
HP:0000006	Autosomal dominant inheritance	844	CASQ1	OMIM:616231
HP:0000006	Autosomal dominant inheritance	7428	VHL	OMIM:193300
HP:0000006	Autosomal dominant inheritance	7428	VHL	OMIM:171300
HP:0000006	Autosomal dominant inheritance	2773	GNAI3	OMIM:602483
HP:0000006	Autosomal dominant inheritance	2296	FOXC1	OMIM:602482
HP:0000006	Autosomal dominant inheritance	2296	FOXC1	OMIM:601631
HP:0000006	Autosomal dominant inheritance	610	HCN2	OMIM:602477
HP:0000006	Autosomal dominant inheritance	805	CALM2	OMIM:616249
HP:0000006	Autosomal dominant inheritance	801	CALM1	OMIM:616247
HP:0000006	Autosomal dominant inheritance	801	CALM1	OMIM:614916
HP:0000006	Autosomal dominant inheritance	5071	PRKN	OMIM:167000
HP:0000006	Autosomal dominant inheritance	5071	PRKN	OMIM:211980
HP:0000006	Autosomal dominant inheritance	4978	OPCML	OMIM:167000
HP:0000006	Autosomal dominant inheritance	4040	LRP6	OMIM:610947
HP:0000006	Autosomal dominant inheritance	4040	LRP6	OMIM:616724
HP:0000006	Autosomal dominant inheritance	3859	KRT12	OMIM:122100
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:145680
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:105210
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:115430
HP:0000006	Autosomal dominant inheritance	5459	POU4F3	OMIM:602459
HP:0000006	Autosomal dominant inheritance	54941	RNF125	OMIM:616260
HP:0000006	Autosomal dominant inheritance	259232	NALCN	OMIM:616266
HP:0000006	Autosomal dominant inheritance	7994	KAT6A	OMIM:616268
HP:0000006	Autosomal dominant inheritance	6683	SPAST	OMIM:182601
HP:0000006	Autosomal dominant inheritance	51062	ATL1	OMIM:182600
HP:0000006	Autosomal dominant inheritance	51062	ATL1	OMIM:613708
HP:0000006	Autosomal dominant inheritance	387733	IFITM5	OMIM:610967
HP:0000006	Autosomal dominant inheritance	255738	PCSK9	OMIM:603776
HP:0000006	Autosomal dominant inheritance	146862	UNC45B	OMIM:616279
HP:0000006	Autosomal dominant inheritance	146862	UNC45B	OMIM:619178
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:239200
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:601198
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:145980
HP:0000006	Autosomal dominant inheritance	23064	SETX	OMIM:602433
HP:0000006	Autosomal dominant inheritance	4141	MARS1	OMIM:616280
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:601104
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:172700
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:600274
HP:0000006	Autosomal dominant inheritance	5898	RALA	OMIM:619311
HP:0000006	Autosomal dominant inheritance	23013	SPEN	OMIM:619312
HP:0000006	Autosomal dominant inheritance	126129	CPT1C	OMIM:616282
HP:0000006	Autosomal dominant inheritance	6477	SIAH1	OMIM:619314
HP:0000006	Autosomal dominant inheritance	9620	CELSR1	OMIM:619319
HP:0000006	Autosomal dominant inheritance	221496	LEMD2	OMIM:619322
HP:0000006	Autosomal dominant inheritance	117581	TWIST2	OMIM:200110
HP:0000006	Autosomal dominant inheritance	117581	TWIST2	OMIM:209885
HP:0000006	Autosomal dominant inheritance	84699	CREB3L3	OMIM:619324
HP:0000006	Autosomal dominant inheritance	29998	BICRA	OMIM:619325
HP:0000006	Autosomal dominant inheritance	23586	RIGI	OMIM:616298
HP:0000006	Autosomal dominant inheritance	23030	KDM4B	OMIM:619320
HP:0000006	Autosomal dominant inheritance	5010	CLDN11	OMIM:619328
HP:0000006	Autosomal dominant inheritance	1289	COL5A1	OMIM:619329
HP:0000006	Autosomal dominant inheritance	1289	COL5A1	OMIM:130000
HP:0000006	Autosomal dominant inheritance	23221	RHOBTB2	OMIM:618004
HP:0000006	Autosomal dominant inheritance	5318	PKP2	OMIM:609040
HP:0000006	Autosomal dominant inheritance	84188	FAR1	OMIM:619338
HP:0000006	Autosomal dominant inheritance	26999	CYFIP2	OMIM:618008
HP:0000006	Autosomal dominant inheritance	9969	MED13	OMIM:618009
HP:0000006	Autosomal dominant inheritance	2253	FGF8	OMIM:612702
HP:0000006	Autosomal dominant inheritance	1019	CDK4	OMIM:609048
HP:0000006	Autosomal dominant inheritance	27032	ATP2C1	OMIM:169600
HP:0000006	Autosomal dominant inheritance	3119	HLA-DQB1	OMIM:123400
HP:0000006	Autosomal dominant inheritance	1828	DSG1	OMIM:148700
HP:0000006	Autosomal dominant inheritance	5428	POLG	OMIM:157640
HP:0000006	Autosomal dominant inheritance	10845	CLPX	OMIM:618015
HP:0000006	Autosomal dominant inheritance	4905	NSF	OMIM:619340
HP:0000006	Autosomal dominant inheritance	523	ATP6V1A	OMIM:618012
HP:0000006	Autosomal dominant inheritance	145226	RDH12	OMIM:612712
HP:0000006	Autosomal dominant inheritance	6697	SPR	OMIM:612716
HP:0000006	Autosomal dominant inheritance	4629	MYH11	OMIM:619350
HP:0000006	Autosomal dominant inheritance	4629	MYH11	OMIM:132900
HP:0000006	Autosomal dominant inheritance	5977	DPF2	OMIM:618027
HP:0000006	Autosomal dominant inheritance	5457	POU4F1	OMIM:619352
HP:0000006	Autosomal dominant inheritance	5340	PLG	OMIM:619360
HP:0000006	Autosomal dominant inheritance	284	ANGPT1	OMIM:619361
HP:0000006	Autosomal dominant inheritance	26509	MYOF	OMIM:619366
HP:0000006	Autosomal dominant inheritance	64711	HS3ST6	OMIM:619367
HP:0000006	Autosomal dominant inheritance	285	ANGPT2	OMIM:619369
HP:0000006	Autosomal dominant inheritance	79977	GRHL2	OMIM:618031
HP:0000006	Autosomal dominant inheritance	79977	GRHL2	OMIM:608641
HP:0000006	Autosomal dominant inheritance	3827	KNG1	OMIM:619363
HP:0000006	Autosomal dominant inheritance	498	ATP5F1A	OMIM:620358
HP:0000006	Autosomal dominant inheritance	51371	POMP	OMIM:618048
HP:0000006	Autosomal dominant inheritance	23154	NCDN	OMIM:619373
HP:0000006	Autosomal dominant inheritance	4938	OAS1	OMIM:618042
HP:0000006	Autosomal dominant inheritance	8651	SOCS1	OMIM:619375
HP:0000006	Autosomal dominant inheritance	1984	EIF5A	OMIM:619376
HP:0000006	Autosomal dominant inheritance	5076	PAX2	OMIM:120330
HP:0000006	Autosomal dominant inheritance	5076	PAX2	OMIM:616002
HP:0000006	Autosomal dominant inheritance	11011	TLK2	OMIM:618050
HP:0000006	Autosomal dominant inheritance	6850	SYK	OMIM:619381
HP:0000006	Autosomal dominant inheritance	23193	GANAB	OMIM:600666
HP:0000006	Autosomal dominant inheritance	1066	CES1	OMIM:618057
HP:0000006	Autosomal dominant inheritance	1312	COMT	OMIM:167870
HP:0000006	Autosomal dominant inheritance	1312	COMT	OMIM:181500
HP:0000006	Autosomal dominant inheritance	3690	ITGB3	OMIM:619271
HP:0000006	Autosomal dominant inheritance	27183	VPS4A	OMIM:619273
HP:0000006	Autosomal dominant inheritance	2077	ERF	OMIM:600775
HP:0000006	Autosomal dominant inheritance	2077	ERF	OMIM:617180
HP:0000006	Autosomal dominant inheritance	2131	EXT1	OMIM:133700
HP:0000006	Autosomal dominant inheritance	7384	UQCRC1	OMIM:619279
HP:0000006	Autosomal dominant inheritance	2132	EXT2	OMIM:133701
HP:0000006	Autosomal dominant inheritance	9782	MATR3	OMIM:606070
HP:0000006	Autosomal dominant inheritance	2904	GRIN2B	OMIM:613970
HP:0000006	Autosomal dominant inheritance	2904	GRIN2B	OMIM:616139
HP:0000006	Autosomal dominant inheritance	2707	GJB3	OMIM:612644
HP:0000006	Autosomal dominant inheritance	2707	GJB3	OMIM:133200
HP:0000006	Autosomal dominant inheritance	3209	HOXA13	OMIM:140000
HP:0000006	Autosomal dominant inheritance	3209	HOXA13	OMIM:176305
HP:0000006	Autosomal dominant inheritance	3048	HBG2	OMIM:613977
HP:0000006	Autosomal dominant inheritance	3048	HBG2	OMIM:141749
HP:0000006	Autosomal dominant inheritance	80207	OPA3	OMIM:165300
HP:0000006	Autosomal dominant inheritance	2255	FGF10	OMIM:180920
HP:0000006	Autosomal dominant inheritance	2255	FGF10	OMIM:620193
HP:0000006	Autosomal dominant inheritance	24148	PRPF6	OMIM:613983
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:613980
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:609622
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:170390
HP:0000006	Autosomal dominant inheritance	121391	KRT74	OMIM:613981
HP:0000006	Autosomal dominant inheritance	121391	KRT74	OMIM:194300
HP:0000006	Autosomal dominant inheritance	6507	SLC1A3	OMIM:612656
HP:0000006	Autosomal dominant inheritance	30061	SLC40A1	OMIM:606069
HP:0000006	Autosomal dominant inheritance	64601	VPS16	OMIM:619291
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:613990
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:127550
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:268130
HP:0000006	Autosomal dominant inheritance	3899	AFF3	OMIM:619297
HP:0000006	Autosomal dominant inheritance	7132	TNFRSF1A	OMIM:142680
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:108721
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:108720
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:150250
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:112310
HP:0000006	Autosomal dominant inheritance	10716	TBR1	OMIM:606053
HP:0000006	Autosomal dominant inheritance	55325	UFSP2	OMIM:142669
HP:0000006	Autosomal dominant inheritance	55325	UFSP2	OMIM:617974
HP:0000006	Autosomal dominant inheritance	1175	AP2S1	OMIM:600740
HP:0000006	Autosomal dominant inheritance	6262	RYR2	OMIM:115000
HP:0000006	Autosomal dominant inheritance	6262	RYR2	OMIM:604772
HP:0000006	Autosomal dominant inheritance	659	BMPR2	OMIM:178600
HP:0000006	Autosomal dominant inheritance	659	BMPR2	OMIM:265450
HP:0000006	Autosomal dominant inheritance	374393	FAM111B	OMIM:615704
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:610021
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:245340
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:616095
HP:0000006	Autosomal dominant inheritance	5149	PDE6H	OMIM:610024
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:108770
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:612474
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:614049
HP:0000006	Autosomal dominant inheritance	347733	TUBB2B	OMIM:610031
HP:0000006	Autosomal dominant inheritance	57057	TBX20	OMIM:611363
HP:0000006	Autosomal dominant inheritance	7025	NR2F1	OMIM:615722
HP:0000006	Autosomal dominant inheritance	3854	KRT6B	OMIM:615728
HP:0000006	Autosomal dominant inheritance	3853	KRT6A	OMIM:615726
HP:0000006	Autosomal dominant inheritance	1186	CLCN7	OMIM:166600
HP:0000006	Autosomal dominant inheritance	1186	CLCN7	OMIM:618541
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:187500
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:614429
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:614430
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:607941
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:615542
HP:0000006	Autosomal dominant inheritance	23414	ZFPM2	OMIM:187500
HP:0000006	Autosomal dominant inheritance	23414	ZFPM2	OMIM:616067
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:187500
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:192430
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:188400
HP:0000006	Autosomal dominant inheritance	5295	PIK3R1	OMIM:269880
HP:0000006	Autosomal dominant inheritance	5295	PIK3R1	OMIM:616005
HP:0000006	Autosomal dominant inheritance	10984	KCNQ1OT1	OMIM:130650
HP:0000006	Autosomal dominant inheritance	286887	KRT6C	OMIM:615735
HP:0000006	Autosomal dominant inheritance	1634	DCN	OMIM:610048
HP:0000006	Autosomal dominant inheritance	63901	FAM111A	OMIM:127000
HP:0000006	Autosomal dominant inheritance	63901	FAM111A	OMIM:602361
HP:0000006	Autosomal dominant inheritance	710	SERPING1	OMIM:106100
HP:0000006	Autosomal dominant inheritance	710	SERPING1	OMIM:120790
HP:0000006	Autosomal dominant inheritance	26353	HSPB8	OMIM:608673
HP:0000006	Autosomal dominant inheritance	26353	HSPB8	OMIM:158590
HP:0000006	Autosomal dominant inheritance	25939	SAMHD1	OMIM:614415
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:174200
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:175700
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:174700
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:146510
HP:0000006	Autosomal dominant inheritance	2554	GABRA1	OMIM:615744
HP:0000006	Autosomal dominant inheritance	5624	PROC	OMIM:176860
HP:0000006	Autosomal dominant inheritance	57094	CPA6	OMIM:614417
HP:0000006	Autosomal dominant inheritance	23431	AP4E1	OMIM:184450
HP:0000006	Autosomal dominant inheritance	631	BFSP1	OMIM:611391
HP:0000006	Autosomal dominant inheritance	4353	MPO	OMIM:104300
HP:0000006	Autosomal dominant inheritance	4846	NOS3	OMIM:104300
HP:0000006	Autosomal dominant inheritance	4846	NOS3	OMIM:189800
HP:0000006	Autosomal dominant inheritance	3077	HFE	OMIM:104300
HP:0000006	Autosomal dominant inheritance	3077	HFE	OMIM:176100
HP:0000006	Autosomal dominant inheritance	3077	HFE	OMIM:176200
HP:0000006	Autosomal dominant inheritance	5328	PLAU	OMIM:104300
HP:0000006	Autosomal dominant inheritance	5328	PLAU	OMIM:601709
HP:0000006	Autosomal dominant inheritance	57167	SALL4	OMIM:607323
HP:0000006	Autosomal dominant inheritance	57167	SALL4	OMIM:147750
HP:0000006	Autosomal dominant inheritance	6708	SPTA1	OMIM:130600
HP:0000006	Autosomal dominant inheritance	55209	SETD5	OMIM:615761
HP:0000006	Autosomal dominant inheritance	10370	CITED2	OMIM:614433
HP:0000006	Autosomal dominant inheritance	10370	CITED2	OMIM:614431
HP:0000006	Autosomal dominant inheritance	7280	TUBB2A	OMIM:615763
HP:0000006	Autosomal dominant inheritance	5156	PDGFRA	OMIM:175510
HP:0000006	Autosomal dominant inheritance	2672	GFI1	OMIM:613107
HP:0000006	Autosomal dominant inheritance	2672	GFI1	OMIM:607847
HP:0000006	Autosomal dominant inheritance	90678	LRSAM1	OMIM:614436
HP:0000006	Autosomal dominant inheritance	4976	OPA1	OMIM:125250
HP:0000006	Autosomal dominant inheritance	4976	OPA1	OMIM:165500
HP:0000006	Autosomal dominant inheritance	3643	INSR	OMIM:609968
HP:0000006	Autosomal dominant inheritance	3315	HSPB1	OMIM:608634
HP:0000006	Autosomal dominant inheritance	3315	HSPB1	OMIM:606595
HP:0000006	Autosomal dominant inheritance	463	ZFHX3	OMIM:176807
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:176807
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:607174
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:605309
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:158350
HP:0000006	Autosomal dominant inheritance	1316	KLF6	OMIM:176807
HP:0000006	Autosomal dominant inheritance	367	AR	OMIM:176807
HP:0000006	Autosomal dominant inheritance	4601	MXI1	OMIM:176807
HP:0000006	Autosomal dominant inheritance	8379	MAD1L1	OMIM:176807
HP:0000006	Autosomal dominant inheritance	203068	TUBB	OMIM:615771
HP:0000006	Autosomal dominant inheritance	203068	TUBB	OMIM:156610
HP:0000006	Autosomal dominant inheritance	81027	TUBB1	OMIM:613112
HP:0000006	Autosomal dominant inheritance	3273	HRG	OMIM:613116
HP:0000006	Autosomal dominant inheritance	462	SERPINC1	OMIM:613118
HP:0000006	Autosomal dominant inheritance	10008	KCNE3	OMIM:613119
HP:0000006	Autosomal dominant inheritance	8456	FOXN1	OMIM:618806
HP:0000006	Autosomal dominant inheritance	5158	PDE6B	OMIM:163500
HP:0000006	Autosomal dominant inheritance	9217	VAPB	OMIM:608627
HP:0000006	Autosomal dominant inheritance	9217	VAPB	OMIM:182980
HP:0000006	Autosomal dominant inheritance	5339	PLEC	OMIM:131950
HP:0000006	Autosomal dominant inheritance	7067	THRA	OMIM:614450
HP:0000006	Autosomal dominant inheritance	55800	SCN3B	OMIM:613120
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:614456
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:193510
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:103500
HP:0000006	Autosomal dominant inheritance	91624	NEXN	OMIM:613122
HP:0000006	Autosomal dominant inheritance	91624	NEXN	OMIM:613876
HP:0000006	Autosomal dominant inheritance	3860	KRT13	OMIM:615785
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:605594
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125500
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125420
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125490
HP:0000006	Autosomal dominant inheritance	9493	KIF23	OMIM:105600
HP:0000006	Autosomal dominant inheritance	6628	SNRPB	OMIM:117650
HP:0000006	Autosomal dominant inheritance	29894	CPSF1	OMIM:618827
HP:0000006	Autosomal dominant inheritance	4659	PPP1R12A	OMIM:618820
HP:0000006	Autosomal dominant inheritance	5336	PLCG2	OMIM:614468
HP:0000006	Autosomal dominant inheritance	5336	PLCG2	OMIM:614878
HP:0000006	Autosomal dominant inheritance	246213	SLC17A8	OMIM:605583
HP:0000006	Autosomal dominant inheritance	8405	SPOP	OMIM:618828
HP:0000006	Autosomal dominant inheritance	8405	SPOP	OMIM:618829
HP:0000006	Autosomal dominant inheritance	22871	NLGN1	OMIM:618830
HP:0000006	Autosomal dominant inheritance	5500	PPP1CB	OMIM:617506
HP:0000006	Autosomal dominant inheritance	9739	SETD1A	OMIM:618832
HP:0000006	Autosomal dominant inheritance	9739	SETD1A	OMIM:619056
HP:0000006	Autosomal dominant inheritance	10210	TOPORS	OMIM:609923
HP:0000006	Autosomal dominant inheritance	79625	NDNF	OMIM:618841
HP:0000006	Autosomal dominant inheritance	158326	FREM1	OMIM:614485
HP:0000006	Autosomal dominant inheritance	1284	COL4A2	OMIM:614483
HP:0000006	Autosomal dominant inheritance	7431	VIM	OMIM:116300
HP:0000006	Autosomal dominant inheritance	51780	KDM3B	OMIM:618846
HP:0000006	Autosomal dominant inheritance	4194	MDM4	OMIM:618849
HP:0000006	Autosomal dominant inheritance	5718	PSMD12	OMIM:617516
HP:0000006	Autosomal dominant inheritance	166929	SGMS2	OMIM:126550
HP:0000006	Autosomal dominant inheritance	6223	RPS19	OMIM:105650
HP:0000006	Autosomal dominant inheritance	5664	PSEN2	OMIM:606889
HP:0000006	Autosomal dominant inheritance	5664	PSEN2	OMIM:613697
HP:0000006	Autosomal dominant inheritance	65266	WNK4	OMIM:614491
HP:0000006	Autosomal dominant inheritance	65125	WNK1	OMIM:614492
HP:0000006	Autosomal dominant inheritance	5205	ATP8B1	OMIM:147480
HP:0000006	Autosomal dominant inheritance	8737	RIPK1	OMIM:618852
HP:0000006	Autosomal dominant inheritance	26249	KLHL3	OMIM:614495
HP:0000006	Autosomal dominant inheritance	23001	WDFY3	OMIM:617520
HP:0000006	Autosomal dominant inheritance	8452	CUL3	OMIM:614496
HP:0000006	Autosomal dominant inheritance	8452	CUL3	OMIM:619239
HP:0000006	Autosomal dominant inheritance	127534	GJB4	OMIM:617524
HP:0000006	Autosomal dominant inheritance	4858	NOVA2	OMIM:618859
HP:0000006	Autosomal dominant inheritance	401474	SAMD12	OMIM:601068
HP:0000006	Autosomal dominant inheritance	1024	CDK8	OMIM:618748
HP:0000006	Autosomal dominant inheritance	10059	DNM1L	OMIM:614388
HP:0000006	Autosomal dominant inheritance	10059	DNM1L	OMIM:610708
HP:0000006	Autosomal dominant inheritance	6228	RPS23	OMIM:617412
HP:0000006	Autosomal dominant inheritance	2563	GABRD	OMIM:613060
HP:0000006	Autosomal dominant inheritance	6729	SRP54	OMIM:618752
HP:0000006	Autosomal dominant inheritance	308	ANXA5	OMIM:614391
HP:0000006	Autosomal dominant inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000006	Autosomal dominant inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000006	Autosomal dominant inheritance	1380	CR2	OMIM:240500
HP:0000006	Autosomal dominant inheritance	29851	ICOS	OMIM:240500
HP:0000006	Autosomal dominant inheritance	930	CD19	OMIM:240500
HP:0000006	Autosomal dominant inheritance	407053	MIR96	OMIM:613074
HP:0000006	Autosomal dominant inheritance	50484	RRM2B	OMIM:613077
HP:0000006	Autosomal dominant inheritance	6844	VAMP2	OMIM:618760
HP:0000006	Autosomal dominant inheritance	130340	AP1S3	OMIM:616106
HP:0000006	Autosomal dominant inheritance	7852	CXCR4	OMIM:193670
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:617439
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:179300
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:614823
HP:0000006	Autosomal dominant inheritance	3850	KRT3	OMIM:618767
HP:0000006	Autosomal dominant inheritance	25778	DSTYK	OMIM:610805
HP:0000006	Autosomal dominant inheritance	857	CAV1	OMIM:606721
HP:0000006	Autosomal dominant inheritance	857	CAV1	OMIM:615343
HP:0000006	Autosomal dominant inheritance	4330	MN1	OMIM:618774
HP:0000006	Autosomal dominant inheritance	4330	MN1	OMIM:607174
HP:0000006	Autosomal dominant inheritance	2313	FLI1	OMIM:617443
HP:0000006	Autosomal dominant inheritance	7092	TLL1	OMIM:613087
HP:0000006	Autosomal dominant inheritance	51086	TNNI3K	OMIM:616117
HP:0000006	Autosomal dominant inheritance	58484	NLRC4	OMIM:616115
HP:0000006	Autosomal dominant inheritance	58484	NLRC4	OMIM:616050
HP:0000006	Autosomal dominant inheritance	8295	TRRAP	OMIM:618778
HP:0000006	Autosomal dominant inheritance	8295	TRRAP	OMIM:618454
HP:0000006	Autosomal dominant inheritance	2201	FBN2	OMIM:616118
HP:0000006	Autosomal dominant inheritance	2201	FBN2	OMIM:121050
HP:0000006	Autosomal dominant inheritance	6602	SMARCD1	OMIM:618779
HP:0000006	Autosomal dominant inheritance	57822	GRHL3	OMIM:606713
HP:0000006	Autosomal dominant inheritance	10019	SH2B3	OMIM:133100
HP:0000006	Autosomal dominant inheritance	10019	SH2B3	OMIM:187950
HP:0000006	Autosomal dominant inheritance	2057	EPOR	OMIM:133100
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:603689
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:604145
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:613765
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:600334
HP:0000006	Autosomal dominant inheritance	5972	REN	OMIM:613092
HP:0000006	Autosomal dominant inheritance	5311	PKD2	OMIM:613095
HP:0000006	Autosomal dominant inheritance	5034	P4HB	OMIM:112240
HP:0000006	Autosomal dominant inheritance	23512	SUZ12	OMIM:618786
HP:0000006	Autosomal dominant inheritance	1969	EPHA2	OMIM:116600
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:172700
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:613737
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:607822
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:613694
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:600274
HP:0000006	Autosomal dominant inheritance	808	CALM3	OMIM:618782
HP:0000006	Autosomal dominant inheritance	5357	PLS1	OMIM:618787
HP:0000006	Autosomal dominant inheritance	5727	PTCH1	OMIM:610828
HP:0000006	Autosomal dominant inheritance	5727	PTCH1	OMIM:109400
HP:0000006	Autosomal dominant inheritance	111	ADCY5	OMIM:606703
HP:0000006	Autosomal dominant inheritance	117531	TMC1	OMIM:606705
HP:0000006	Autosomal dominant inheritance	79718	TBL1XR1	OMIM:602342
HP:0000006	Autosomal dominant inheritance	79718	TBL1XR1	OMIM:616944
HP:0000006	Autosomal dominant inheritance	715	C1R	OMIM:130080
HP:0000006	Autosomal dominant inheritance	3098	HK1	OMIM:617460
HP:0000006	Autosomal dominant inheritance	3098	HK1	OMIM:618547
HP:0000006	Autosomal dominant inheritance	51339	DACT1	OMIM:617466
HP:0000006	Autosomal dominant inheritance	1742	DLG4	OMIM:618793
HP:0000006	Autosomal dominant inheritance	200424	TET3	OMIM:618798
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:601005
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:620029
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:618447
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:611875
HP:0000006	Autosomal dominant inheritance	25836	NIPBL	OMIM:122470
HP:0000006	Autosomal dominant inheritance	22873	DZIP1	OMIM:610840
HP:0000006	Autosomal dominant inheritance	2516	NR5A1	OMIM:617480
HP:0000006	Autosomal dominant inheritance	2516	NR5A1	OMIM:613957
HP:0000006	Autosomal dominant inheritance	50939	IMPG2	OMIM:616152
HP:0000006	Autosomal dominant inheritance	3617	IMPG1	OMIM:616151
HP:0000006	Autosomal dominant inheritance	3617	IMPG1	OMIM:153870
HP:0000006	Autosomal dominant inheritance	5813	PURA	OMIM:616158
HP:0000006	Autosomal dominant inheritance	4175	MCM6	OMIM:223100
HP:0000006	Autosomal dominant inheritance	22999	RIMS1	OMIM:603649
HP:0000006	Autosomal dominant inheritance	2775	GNAO1	OMIM:617493
HP:0000006	Autosomal dominant inheritance	2775	GNAO1	OMIM:615473
HP:0000006	Autosomal dominant inheritance	8076	MFAP5	OMIM:616166
HP:0000006	Autosomal dominant inheritance	89884	LHX4	OMIM:262700
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:167320
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:613954
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:616687
HP:0000006	Autosomal dominant inheritance	57216	VANGL2	OMIM:182940
HP:0000006	Autosomal dominant inheritance	6347	CCL2	OMIM:182940
HP:0000006	Autosomal dominant inheritance	6862	TBXT	OMIM:182940
HP:0000006	Autosomal dominant inheritance	80199	FUZ	OMIM:182940
HP:0000006	Autosomal dominant inheritance	7681	MKRN3	OMIM:176270
HP:0000006	Autosomal dominant inheritance	3653	IPW	OMIM:176270
HP:0000006	Autosomal dominant inheritance	54551	MAGEL2	OMIM:176270
HP:0000006	Autosomal dominant inheritance	54551	MAGEL2	OMIM:615547
HP:0000006	Autosomal dominant inheritance	791114	PWRN1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	100033413	SNORD116-1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	8924	HERC2	OMIM:176270
HP:0000006	Autosomal dominant inheritance	145624	PWAR1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	23742	NPAP1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	338433	SNORD115-1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	84100	ARL6	OMIM:268000
HP:0000006	Autosomal dominant inheritance	9227	LRAT	OMIM:268000
HP:0000006	Autosomal dominant inheritance	5949	RBP3	OMIM:268000
HP:0000006	Autosomal dominant inheritance	7401	CLRN1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	5148	PDE6G	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1259	CNGA1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1406	CRX	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1406	CRX	OMIM:120970
HP:0000006	Autosomal dominant inheritance	157657	CFAP418	OMIM:268000
HP:0000006	Autosomal dominant inheritance	112755	STX1B	OMIM:616172
HP:0000006	Autosomal dominant inheritance	64065	PERP	OMIM:619208
HP:0000006	Autosomal dominant inheritance	6092	ROBO2	OMIM:610878
HP:0000006	Autosomal dominant inheritance	1281	COL3A1	OMIM:130050
HP:0000006	Autosomal dominant inheritance	343641	TGM6	OMIM:613908
HP:0000006	Autosomal dominant inheritance	486	FXYD2	OMIM:154020
HP:0000006	Autosomal dominant inheritance	3746	KCNC1	OMIM:616187
HP:0000006	Autosomal dominant inheritance	3000	GUCY2D	OMIM:215500
HP:0000006	Autosomal dominant inheritance	3000	GUCY2D	OMIM:601777
HP:0000006	Autosomal dominant inheritance	219972	MPEG1	OMIM:619223
HP:0000006	Autosomal dominant inheritance	4613	MYCN	OMIM:164280
HP:0000006	Autosomal dominant inheritance	51729	WBP11	OMIM:619227
HP:0000006	Autosomal dominant inheritance	6304	SATB1	OMIM:619228
HP:0000006	Autosomal dominant inheritance	6304	SATB1	OMIM:619229
HP:0000006	Autosomal dominant inheritance	9049	AIP	OMIM:219090
HP:0000006	Autosomal dominant inheritance	9049	AIP	OMIM:102200
HP:0000006	Autosomal dominant inheritance	9101	USP8	OMIM:219090
HP:0000006	Autosomal dominant inheritance	147912	SIX5	OMIM:610896
HP:0000006	Autosomal dominant inheritance	220296	HEPACAM	OMIM:613926
HP:0000006	Autosomal dominant inheritance	84196	USP48	OMIM:620227
HP:0000006	Autosomal dominant inheritance	6295	SAG	OMIM:620228
HP:0000006	Autosomal dominant inheritance	80036	TRPM3	OMIM:620224
HP:0000006	Autosomal dominant inheritance	80036	TRPM3	OMIM:620253
HP:0000006	Autosomal dominant inheritance	7345	UCHL1	OMIM:620221
HP:0000006	Autosomal dominant inheritance	7345	UCHL1	OMIM:613643
HP:0000006	Autosomal dominant inheritance	286	ANK1	OMIM:182900
HP:0000006	Autosomal dominant inheritance	23112	TNRC6B	OMIM:619243
HP:0000006	Autosomal dominant inheritance	6508	SLC4A3	OMIM:620231
HP:0000006	Autosomal dominant inheritance	2700	GJA3	OMIM:601885
HP:0000006	Autosomal dominant inheritance	6389	SDHA	OMIM:619259
HP:0000006	Autosomal dominant inheritance	6389	SDHA	OMIM:614165
HP:0000006	Autosomal dominant inheritance	1290	COL5A2	OMIM:130010
HP:0000006	Autosomal dominant inheritance	55605	KIF21A	OMIM:135700
HP:0000006	Autosomal dominant inheritance	8831	SYNGAP1	OMIM:612621
HP:0000006	Autosomal dominant inheritance	7716	VEZF1	OMIM:620247
HP:0000006	Autosomal dominant inheritance	6532	SLC6A4	OMIM:164230
HP:0000006	Autosomal dominant inheritance	3356	HTR2A	OMIM:164230
HP:0000006	Autosomal dominant inheritance	3356	HTR2A	OMIM:181500
HP:0000006	Autosomal dominant inheritance	112744	IL17F	OMIM:613956
HP:0000006	Autosomal dominant inheritance	256472	TMEM151A	OMIM:620245
HP:0000006	Autosomal dominant inheritance	133396	IL31RA	OMIM:613955
HP:0000006	Autosomal dominant inheritance	81615	TMEM163	OMIM:620243
HP:0000006	Autosomal dominant inheritance	6599	SMARCC1	OMIM:620241
HP:0000006	Autosomal dominant inheritance	2767	GNA11	OMIM:145981
HP:0000006	Autosomal dominant inheritance	2767	GNA11	OMIM:615361
HP:0000006	Autosomal dominant inheritance	2747	GLUD2	OMIM:168600
HP:0000006	Autosomal dominant inheritance	126	ADH1C	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4929	NR4A2	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4929	NR4A2	OMIM:619911
HP:0000006	Autosomal dominant inheritance	6908	TBP	OMIM:168600
HP:0000006	Autosomal dominant inheritance	6908	TBP	OMIM:607136
HP:0000006	Autosomal dominant inheritance	4576	MT-TT	OMIM:168600
HP:0000006	Autosomal dominant inheritance	9627	SNCAIP	OMIM:168600
HP:0000006	Autosomal dominant inheritance	1308	COL17A1	OMIM:122400
HP:0000006	Autosomal dominant inheritance	51684	SUFU	OMIM:607174
HP:0000006	Autosomal dominant inheritance	51684	SUFU	OMIM:155255
HP:0000006	Autosomal dominant inheritance	6605	SMARCE1	OMIM:607174
HP:0000006	Autosomal dominant inheritance	6605	SMARCE1	OMIM:616938
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:607174
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:213600
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:615483
HP:0000006	Autosomal dominant inheritance	2811	GP1BA	OMIM:153670
HP:0000006	Autosomal dominant inheritance	2811	GP1BA	OMIM:177820
HP:0000006	Autosomal dominant inheritance	79784	MYH14	OMIM:600652
HP:0000006	Autosomal dominant inheritance	79784	MYH14	OMIM:614369
HP:0000006	Autosomal dominant inheritance	26960	NBEA	OMIM:619157
HP:0000006	Autosomal dominant inheritance	2657	GDF1	OMIM:613854
HP:0000006	Autosomal dominant inheritance	2776	GNAQ	OMIM:163000
HP:0000006	Autosomal dominant inheritance	6165	RPL35A	OMIM:612528
HP:0000006	Autosomal dominant inheritance	6218	RPS17	OMIM:612527
HP:0000006	Autosomal dominant inheritance	51343	FZR1	OMIM:620145
HP:0000006	Autosomal dominant inheritance	10093	ARPC4	OMIM:620141
HP:0000006	Autosomal dominant inheritance	4016	LOXL1	OMIM:177650
HP:0000006	Autosomal dominant inheritance	4352	MPL	OMIM:601977
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:620157
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:620155
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:616831
HP:0000006	Autosomal dominant inheritance	4884	NPTX1	OMIM:620158
HP:0000006	Autosomal dominant inheritance	9197	SLC33A1	OMIM:612539
HP:0000006	Autosomal dominant inheritance	3242	HPD	OMIM:140350
HP:0000006	Autosomal dominant inheritance	58528	RRAGD	OMIM:620152
HP:0000006	Autosomal dominant inheritance	7125	TNNC2	OMIM:620161
HP:0000006	Autosomal dominant inheritance	1185	CLCN6	OMIM:619173
HP:0000006	Autosomal dominant inheritance	6452	SH3BP2	OMIM:118400
HP:0000006	Autosomal dominant inheritance	10381	TUBB3	OMIM:600638
HP:0000006	Autosomal dominant inheritance	10381	TUBB3	OMIM:614039
HP:0000006	Autosomal dominant inheritance	1889	ECE1	OMIM:613870
HP:0000006	Autosomal dominant inheritance	57158	JPH2	OMIM:613873
HP:0000006	Autosomal dominant inheritance	5346	PLIN1	OMIM:613877
HP:0000006	Autosomal dominant inheritance	29967	LRP12	OMIM:164310
HP:0000006	Autosomal dominant inheritance	6687	SPG7	OMIM:607259
HP:0000006	Autosomal dominant inheritance	64127	NOD2	OMIM:186580
HP:0000006	Autosomal dominant inheritance	23036	ZNF292	OMIM:619188
HP:0000006	Autosomal dominant inheritance	342618	SLFN14	OMIM:616913
HP:0000006	Autosomal dominant inheritance	9096	TBX18	OMIM:143400
HP:0000006	Autosomal dominant inheritance	53834	FGFRL1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	1487	CTBP1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	1487	CTBP1	OMIM:617915
HP:0000006	Autosomal dominant inheritance	3954	LETM1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	10815	CPLX1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	2259	FGF14	OMIM:620174
HP:0000006	Autosomal dominant inheritance	2259	FGF14	OMIM:193003
HP:0000006	Autosomal dominant inheritance	1471	CST3	OMIM:105150
HP:0000006	Autosomal dominant inheritance	5307	PITX1	OMIM:186550
HP:0000006	Autosomal dominant inheritance	5307	PITX1	OMIM:119800
HP:0000006	Autosomal dominant inheritance	6135	RPL11	OMIM:612562
HP:0000006	Autosomal dominant inheritance	6125	RPL5	OMIM:612561
HP:0000006	Autosomal dominant inheritance	6201	RPS7	OMIM:612563
HP:0000006	Autosomal dominant inheritance	10846	PDE10A	OMIM:616922
HP:0000006	Autosomal dominant inheritance	8085	KMT2D	OMIM:620186
HP:0000006	Autosomal dominant inheritance	8085	KMT2D	OMIM:147920
HP:0000006	Autosomal dominant inheritance	11146	GLMN	OMIM:138000
HP:0000006	Autosomal dominant inheritance	9896	FIG4	OMIM:612577
HP:0000006	Autosomal dominant inheritance	1962	EHHADH	OMIM:615605
HP:0000006	Autosomal dominant inheritance	8106	PABPN1	OMIM:164300
HP:0000006	Autosomal dominant inheritance	1013	CDH15	OMIM:612580
HP:0000006	Autosomal dominant inheritance	3313	HSPA9	OMIM:182170
HP:0000006	Autosomal dominant inheritance	6929	TCF3	OMIM:616941
HP:0000006	Autosomal dominant inheritance	2074	ERCC6	OMIM:616946
HP:0000006	Autosomal dominant inheritance	2074	ERCC6	OMIM:211980
HP:0000006	Autosomal dominant inheritance	29119	CTNNA3	OMIM:615616
HP:0000006	Autosomal dominant inheritance	5424	POLD1	OMIM:612591
HP:0000006	Autosomal dominant inheritance	5424	POLD1	OMIM:615381
HP:0000006	Autosomal dominant inheritance	51308	REEP2	OMIM:615625
HP:0000006	Autosomal dominant inheritance	3371	TNC	OMIM:615629
HP:0000006	Autosomal dominant inheritance	3640	INSL3	OMIM:219050
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:604187
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:617235
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:617921
HP:0000006	Autosomal dominant inheritance	2934	GSN	OMIM:105120
HP:0000006	Autosomal dominant inheritance	6390	SDHB	OMIM:115310
HP:0000006	Autosomal dominant inheritance	6390	SDHB	OMIM:606764
HP:0000006	Autosomal dominant inheritance	6390	SDHB	OMIM:171300
HP:0000006	Autosomal dominant inheritance	25923	ATL3	OMIM:615632
HP:0000006	Autosomal dominant inheritance	4171	MCM2	OMIM:616968
HP:0000006	Autosomal dominant inheritance	4038	LRP4	OMIM:614305
HP:0000006	Autosomal dominant inheritance	406960	MIR184	OMIM:614303
HP:0000006	Autosomal dominant inheritance	3067	HDC	OMIM:137580
HP:0000006	Autosomal dominant inheritance	8763	CD164	OMIM:616969
HP:0000006	Autosomal dominant inheritance	6473	SHOX	OMIM:127300
HP:0000006	Autosomal dominant inheritance	4010	LMX1B	OMIM:161200
HP:0000006	Autosomal dominant inheritance	1837	DTNA	OMIM:604169
HP:0000006	Autosomal dominant inheritance	53630	BCO1	OMIM:115300
HP:0000006	Autosomal dominant inheritance	473	RERE	OMIM:616975
HP:0000006	Autosomal dominant inheritance	2782	GNB1	OMIM:616973
HP:0000006	Autosomal dominant inheritance	3097	HIVEP2	OMIM:616977
HP:0000006	Autosomal dominant inheritance	1588	CYP19A1	OMIM:139300
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:614327
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:606661
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:619762
HP:0000006	Autosomal dominant inheritance	7050	TGIF1	OMIM:142946
HP:0000006	Autosomal dominant inheritance	4507	MTAP	OMIM:112250
HP:0000006	Autosomal dominant inheritance	3868	KRT16	OMIM:613000
HP:0000006	Autosomal dominant inheritance	3868	KRT16	OMIM:167200
HP:0000006	Autosomal dominant inheritance	7098	TLR3	OMIM:613002
HP:0000006	Autosomal dominant inheritance	4604	MYBPC1	OMIM:614335
HP:0000006	Autosomal dominant inheritance	4604	MYBPC1	OMIM:618524
HP:0000006	Autosomal dominant inheritance	121278	TPH2	OMIM:613003
HP:0000006	Autosomal dominant inheritance	5395	PMS2	OMIM:614337
HP:0000006	Autosomal dominant inheritance	3674	ITGA2B	OMIM:187800
HP:0000006	Autosomal dominant inheritance	1816	DRD5	OMIM:606798
HP:0000006	Autosomal dominant inheritance	1816	DRD5	OMIM:143465
HP:0000006	Autosomal dominant inheritance	8929	PHOX2B	OMIM:613013
HP:0000006	Autosomal dominant inheritance	8929	PHOX2B	OMIM:209880
HP:0000006	Autosomal dominant inheritance	286077	FAM83H	OMIM:130900
HP:0000006	Autosomal dominant inheritance	54583	EGLN1	OMIM:609820
HP:0000006	Autosomal dominant inheritance	2065	ERBB3	OMIM:133180
HP:0000006	Autosomal dominant inheritance	8936	WASF1	OMIM:618707
HP:0000006	Autosomal dominant inheritance	28514	DLL1	OMIM:618709
HP:0000006	Autosomal dominant inheritance	1056	CEL	OMIM:609812
HP:0000006	Autosomal dominant inheritance	1786	DNMT1	OMIM:604121
HP:0000006	Autosomal dominant inheritance	1786	DNMT1	OMIM:614116
HP:0000006	Autosomal dominant inheritance	9516	LITAF	OMIM:601098
HP:0000006	Autosomal dominant inheritance	93649	MYOCD	OMIM:618719
HP:0000006	Autosomal dominant inheritance	4014	LORICRIN	OMIM:604117
HP:0000006	Autosomal dominant inheritance	51317	PHF21A	OMIM:618725
HP:0000006	Autosomal dominant inheritance	56983	POGLUT1	OMIM:615696
HP:0000006	Autosomal dominant inheritance	6137	RPL13	OMIM:618728
HP:0000006	Autosomal dominant inheritance	5449	POU1F1	OMIM:613038
HP:0000006	Autosomal dominant inheritance	646	BNC1	OMIM:618723
HP:0000006	Autosomal dominant inheritance	3659	IRF1	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1956	EGFR	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1548	CYP2A6	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1548	CYP2A6	OMIM:122700
HP:0000006	Autosomal dominant inheritance	356	FASLG	OMIM:211980
HP:0000006	Autosomal dominant inheritance	356	FASLG	OMIM:601859
HP:0000006	Autosomal dominant inheritance	5519	PPP2R1B	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1326	MAP3K8	OMIM:211980
HP:0000006	Autosomal dominant inheritance	6496	SIX3	OMIM:157170
HP:0000006	Autosomal dominant inheritance	6910	TBX5	OMIM:142900
HP:0000006	Autosomal dominant inheritance	6391	SDHC	OMIM:606764
HP:0000006	Autosomal dominant inheritance	6391	SDHC	OMIM:605373
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:606764
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:154800
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:172800
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:601626
HP:0000006	Autosomal dominant inheritance	116369	SLC26A8	OMIM:606766
HP:0000006	Autosomal dominant inheritance	4153	MBL2	OMIM:614372
HP:0000006	Autosomal dominant inheritance	10654	PMVK	OMIM:175800
HP:0000006	Autosomal dominant inheritance	7545	ZIC1	OMIM:618736
HP:0000006	Autosomal dominant inheritance	7545	ZIC1	OMIM:616602
HP:0000006	Autosomal dominant inheritance	1460	CSNK2B	OMIM:618732
HP:0000006	Autosomal dominant inheritance	6155	RPL27	OMIM:617408
HP:0000006	Autosomal dominant inheritance	8449	DHX16	OMIM:618733
HP:0000006	Autosomal dominant inheritance	55901	THSD1	OMIM:618734
HP:0000006	Autosomal dominant inheritance	2746	GLUD1	OMIM:606762
HP:0000006	Autosomal dominant inheritance	3207	HOXA11	OMIM:605432
HP:0000006	Autosomal dominant inheritance	6232	RPS27	OMIM:617409
HP:0000006	Autosomal dominant inheritance	6335	SCN9A	OMIM:133020
HP:0000006	Autosomal dominant inheritance	6335	SCN9A	OMIM:167400
HP:0000006	Autosomal dominant inheritance	735	C9	OMIM:615591
HP:0000006	Autosomal dominant inheritance	8367	H4C5	OMIM:619950
HP:0000006	Autosomal dominant inheritance	8294	H4C9	OMIM:619951
HP:0000006	Autosomal dominant inheritance	63036	CELA2A	OMIM:618620
HP:0000006	Autosomal dominant inheritance	55654	TMEM127	OMIM:171300
HP:0000006	Autosomal dominant inheritance	6392	SDHD	OMIM:171300
HP:0000006	Autosomal dominant inheritance	6392	SDHD	OMIM:168000
HP:0000006	Autosomal dominant inheritance	4149	MAX	OMIM:171300
HP:0000006	Autosomal dominant inheritance	10054	UBA2	OMIM:619959
HP:0000006	Autosomal dominant inheritance	26873	OPLAH	OMIM:260005
HP:0000006	Autosomal dominant inheritance	22800	RRAS2	OMIM:618624
HP:0000006	Autosomal dominant inheritance	6720	SREBF1	OMIM:158310
HP:0000006	Autosomal dominant inheritance	6720	SREBF1	OMIM:619016
HP:0000006	Autosomal dominant inheritance	101060691	NUTM2B-AS1	OMIM:618637
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:145000
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:145001
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:608266
HP:0000006	Autosomal dominant inheritance	2670	GFAP	OMIM:203450
HP:0000006	Autosomal dominant inheritance	10565	ARFGEF1	OMIM:619964
HP:0000006	Autosomal dominant inheritance	535	ATP6V0A1	OMIM:619970
HP:0000006	Autosomal dominant inheritance	8930	MBD4	OMIM:619975
HP:0000006	Autosomal dominant inheritance	8930	MBD4	OMIM:606660
HP:0000006	Autosomal dominant inheritance	7123	CLEC3B	OMIM:619977
HP:0000006	Autosomal dominant inheritance	54361	WNT4	OMIM:158330
HP:0000006	Autosomal dominant inheritance	652	BMP4	OMIM:607932
HP:0000006	Autosomal dominant inheritance	22884	WDR37	OMIM:618652
HP:0000006	Autosomal dominant inheritance	1656	DDX6	OMIM:618653
HP:0000006	Autosomal dominant inheritance	83636	C19orf12	OMIM:614298
HP:0000006	Autosomal dominant inheritance	57178	ZMIZ1	OMIM:618659
HP:0000006	Autosomal dominant inheritance	90268	OTULIN	OMIM:619986
HP:0000006	Autosomal dominant inheritance	3782	KCNN3	OMIM:618658
HP:0000006	Autosomal dominant inheritance	9897	WASHC5	OMIM:603563
HP:0000006	Autosomal dominant inheritance	25794	FSCN2	OMIM:607921
HP:0000006	Autosomal dominant inheritance	253738	EBF3	OMIM:617330
HP:0000006	Autosomal dominant inheritance	23432	GPR161	OMIM:155255
HP:0000006	Autosomal dominant inheritance	8518	ELP1	OMIM:155255
HP:0000006	Autosomal dominant inheritance	8643	PTCH2	OMIM:155255
HP:0000006	Autosomal dominant inheritance	7862	BRPF1	OMIM:617333
HP:0000006	Autosomal dominant inheritance	126695	KDF1	OMIM:617337
HP:0000006	Autosomal dominant inheritance	249	ALPL	OMIM:146300
HP:0000006	Autosomal dominant inheritance	389692	MAFA	OMIM:147630
HP:0000006	Autosomal dominant inheritance	2121	EVC	OMIM:193530
HP:0000006	Autosomal dominant inheritance	132884	EVC2	OMIM:193530
HP:0000006	Autosomal dominant inheritance	131405	TRIM71	OMIM:618667
HP:0000006	Autosomal dominant inheritance	6638	SNRPN	OMIM:105830
HP:0000006	Autosomal dominant inheritance	7337	UBE3A	OMIM:105830
HP:0000006	Autosomal dominant inheritance	10117	ENAM	OMIM:104500
HP:0000006	Autosomal dominant inheritance	26137	ZBTB20	OMIM:259050
HP:0000006	Autosomal dominant inheritance	55596	ZCCHC8	OMIM:618674
HP:0000006	Autosomal dominant inheritance	9247	GCM2	OMIM:617343
HP:0000006	Autosomal dominant inheritance	4849	CNOT3	OMIM:618672
HP:0000006	Autosomal dominant inheritance	2301	FOXE3	OMIM:617349
HP:0000006	Autosomal dominant inheritance	3835	KIF22	OMIM:603546
HP:0000006	Autosomal dominant inheritance	285282	RABL3	OMIM:618680
HP:0000006	Autosomal dominant inheritance	4851	NOTCH1	OMIM:616028
HP:0000006	Autosomal dominant inheritance	4851	NOTCH1	OMIM:109730
HP:0000006	Autosomal dominant inheritance	9725	TMEM63A	OMIM:618688
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:168550
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:168500
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:604757
HP:0000006	Autosomal dominant inheritance	54443	ANLN	OMIM:616032
HP:0000006	Autosomal dominant inheritance	6121	RPE65	OMIM:618697
HP:0000006	Autosomal dominant inheritance	8621	CDK13	OMIM:617360
HP:0000006	Autosomal dominant inheritance	5310	PKD1	OMIM:173900
HP:0000006	Autosomal dominant inheritance	5587	PRKD1	OMIM:617364
HP:0000006	Autosomal dominant inheritance	2302	FOXJ1	OMIM:618699
HP:0000006	Autosomal dominant inheritance	127833	SYT2	OMIM:616040
HP:0000006	Autosomal dominant inheritance	57465	TBC1D24	OMIM:616044
HP:0000006	Autosomal dominant inheritance	10049	DNAJB6	OMIM:603511
HP:0000006	Autosomal dominant inheritance	440193	CCDC88C	OMIM:616053
HP:0000006	Autosomal dominant inheritance	25814	ATXN10	OMIM:603516
HP:0000006	Autosomal dominant inheritance	3745	KCNB1	OMIM:616056
HP:0000006	Autosomal dominant inheritance	23780	APOL2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	267012	DAOA	OMIM:181500
HP:0000006	Autosomal dominant inheritance	6854	SYN2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	27184	DISC2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	65078	RTN4R	OMIM:181500
HP:0000006	Autosomal dominant inheritance	80832	APOL4	OMIM:181500
HP:0000006	Autosomal dominant inheritance	1116	CHI3L1	OMIM:181500
HP:0000006	Autosomal dominant inheritance	1027	CDKN1B	OMIM:610755
HP:0000006	Autosomal dominant inheritance	9126	SMC3	OMIM:610759
HP:0000006	Autosomal dominant inheritance	3192	HNRNPU	OMIM:617391
HP:0000006	Autosomal dominant inheritance	63910	SLC17A9	OMIM:616063
HP:0000006	Autosomal dominant inheritance	112939	NACC1	OMIM:617393
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:190440
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:166250
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:147950
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:123150
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:615465
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:101600
HP:0000006	Autosomal dominant inheritance	10524	KAT5	OMIM:619103
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:616079
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:117300
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:176500
HP:0000006	Autosomal dominant inheritance	10771	ZMYND11	OMIM:616083
HP:0000006	Autosomal dominant inheritance	1300	COL10A1	OMIM:156500
HP:0000006	Autosomal dominant inheritance	29895	MYL11	OMIM:619110
HP:0000006	Autosomal dominant inheritance	3839	KPNA3	OMIM:620106
HP:0000006	Autosomal dominant inheritance	80320	SP6	OMIM:620104
HP:0000006	Autosomal dominant inheritance	7078	TIMP3	OMIM:136900
HP:0000006	Autosomal dominant inheritance	6253	RTN2	OMIM:604805
HP:0000006	Autosomal dominant inheritance	10220	GDF11	OMIM:619122
HP:0000006	Autosomal dominant inheritance	79809	TTC21B	OMIM:613820
HP:0000006	Autosomal dominant inheritance	23031	MAST3	OMIM:620115
HP:0000006	Autosomal dominant inheritance	8911	CACNA1I	OMIM:620114
HP:0000006	Autosomal dominant inheritance	3710	ITPR3	OMIM:620111
HP:0000006	Autosomal dominant inheritance	2979	GUCA1B	OMIM:613827
HP:0000006	Autosomal dominant inheritance	9759	HDAC4	OMIM:600430
HP:0000006	Autosomal dominant inheritance	9759	HDAC4	OMIM:619797
HP:0000006	Autosomal dominant inheritance	64376	IKZF5	OMIM:619130
HP:0000006	Autosomal dominant inheritance	120892	LRRK2	OMIM:607060
HP:0000006	Autosomal dominant inheritance	51778	MYOZ2	OMIM:613838
HP:0000006	Autosomal dominant inheritance	654	BMP6	OMIM:620121
HP:0000006	Autosomal dominant inheritance	899	CCNF	OMIM:619141
HP:0000006	Autosomal dominant inheritance	860	RUNX2	OMIM:156510
HP:0000006	Autosomal dominant inheritance	860	RUNX2	OMIM:119600
HP:0000006	Autosomal dominant inheritance	27161	AGO2	OMIM:619149
HP:0000006	Autosomal dominant inheritance	5567	PRKACB	OMIM:619143
HP:0000006	Autosomal dominant inheritance	7389	UROD	OMIM:176100
HP:0000006	Autosomal dominant inheritance	1462	VCAN	OMIM:143200
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:608389
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:113650
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:605192
HP:0000006	Autosomal dominant inheritance	23019	CNOT1	OMIM:619033
HP:0000006	Autosomal dominant inheritance	23019	CNOT1	OMIM:618500
HP:0000006	Autosomal dominant inheritance	55851	PSENEN	OMIM:613736
HP:0000006	Autosomal dominant inheritance	4774	NFIA	OMIM:613735
HP:0000006	Autosomal dominant inheritance	7003	TEAD1	OMIM:108985
HP:0000006	Autosomal dominant inheritance	10992	SF3B2	OMIM:164210
HP:0000006	Autosomal dominant inheritance	355	FAS	OMIM:601859
HP:0000006	Autosomal dominant inheritance	57674	RNF213	OMIM:607151
HP:0000006	Autosomal dominant inheritance	5498	PPOX	OMIM:176200
HP:0000006	Autosomal dominant inheritance	2160	F11	OMIM:612416
HP:0000006	Autosomal dominant inheritance	64780	MICAL1	OMIM:600512
HP:0000006	Autosomal dominant inheritance	9211	LGI1	OMIM:600512
HP:0000006	Autosomal dominant inheritance	1137	CHRNA4	OMIM:600513
HP:0000006	Autosomal dominant inheritance	7040	TGFB1	OMIM:131300
HP:0000006	Autosomal dominant inheritance	4901	NRL	OMIM:613750
HP:0000006	Autosomal dominant inheritance	93	ACVR2B	OMIM:613751
HP:0000006	Autosomal dominant inheritance	6575	SLC20A2	OMIM:213600
HP:0000006	Autosomal dominant inheritance	4214	MAP3K1	OMIM:613762
HP:0000006	Autosomal dominant inheritance	5995	RGR	OMIM:613769
HP:0000006	Autosomal dominant inheritance	29880	ALG5	OMIM:620056
HP:0000006	Autosomal dominant inheritance	2719	GPC3	OMIM:194070
HP:0000006	Autosomal dominant inheritance	2239	GPC4	OMIM:194070
HP:0000006	Autosomal dominant inheritance	283120	H19	OMIM:194070
HP:0000006	Autosomal dominant inheritance	1576	CYP3A4	OMIM:619073
HP:0000006	Autosomal dominant inheritance	4953	ODC1	OMIM:619075
HP:0000006	Autosomal dominant inheritance	22900	CARD8	OMIM:619079
HP:0000006	Autosomal dominant inheritance	19	ABCA1	OMIM:604091
HP:0000006	Autosomal dominant inheritance	6660	SOX5	OMIM:616803
HP:0000006	Autosomal dominant inheritance	9990	SLC12A6	OMIM:620068
HP:0000006	Autosomal dominant inheritance	22859	ADGRL1	OMIM:620065
HP:0000006	Autosomal dominant inheritance	6558	SLC12A2	OMIM:619083
HP:0000006	Autosomal dominant inheritance	6558	SLC12A2	OMIM:619081
HP:0000006	Autosomal dominant inheritance	10236	HNRNPR	OMIM:620073
HP:0000006	Autosomal dominant inheritance	51611	DPH5	OMIM:620070
HP:0000006	Autosomal dominant inheritance	79966	SCD5	OMIM:619086
HP:0000006	Autosomal dominant inheritance	402	ARL2	OMIM:619082
HP:0000006	Autosomal dominant inheritance	5594	MAPK1	OMIM:619087
HP:0000006	Autosomal dominant inheritance	4638	MYLK	OMIM:613780
HP:0000006	Autosomal dominant inheritance	10253	SPRY2	OMIM:616818
HP:0000006	Autosomal dominant inheritance	6742	SSBP1	OMIM:165510
HP:0000006	Autosomal dominant inheritance	51085	MLXIPL	OMIM:194050
HP:0000006	Autosomal dominant inheritance	3187	HNRNPH1	OMIM:620083
HP:0000006	Autosomal dominant inheritance	22880	MORC2	OMIM:619090
HP:0000006	Autosomal dominant inheritance	22880	MORC2	OMIM:616688
HP:0000006	Autosomal dominant inheritance	11117	EMILIN1	OMIM:620080
HP:0000006	Autosomal dominant inheritance	4677	NARS1	OMIM:619092
HP:0000006	Autosomal dominant inheritance	10002	NR2E3	OMIM:611131
HP:0000006	Autosomal dominant inheritance	4088	SMAD3	OMIM:613795
HP:0000006	Autosomal dominant inheritance	2688	GH1	OMIM:173100
HP:0000006	Autosomal dominant inheritance	506	ATP5F1B	OMIM:620085
HP:0000006	Autosomal dominant inheritance	92154	MTSS2	OMIM:620086
HP:0000006	Autosomal dominant inheritance	84978	FRMD5	OMIM:620094
HP:0000006	Autosomal dominant inheritance	51053	GMNN	OMIM:616835
HP:0000006	Autosomal dominant inheritance	10664	CTCF	OMIM:615502
HP:0000006	Autosomal dominant inheritance	57592	ZNF687	OMIM:616833
HP:0000006	Autosomal dominant inheritance	23534	TNPO3	OMIM:608423
HP:0000006	Autosomal dominant inheritance	2658	GDF2	OMIM:615506
HP:0000006	Autosomal dominant inheritance	57716	PRX	OMIM:145900
HP:0000006	Autosomal dominant inheritance	3720	JARID2	OMIM:620098
HP:0000006	Autosomal dominant inheritance	865	CBFB	OMIM:620099
HP:0000006	Autosomal dominant inheritance	147495	APCDD1	OMIM:605389
HP:0000006	Autosomal dominant inheritance	2066	ERBB4	OMIM:615515
HP:0000006	Autosomal dominant inheritance	5293	PIK3CD	OMIM:615513
HP:0000006	Autosomal dominant inheritance	2495	FTH1	OMIM:615517
HP:0000006	Autosomal dominant inheritance	1417	CRYBB3	OMIM:609741
HP:0000006	Autosomal dominant inheritance	128866	CHMP4B	OMIM:605387
HP:0000006	Autosomal dominant inheritance	9094	UNC119	OMIM:615518
HP:0000006	Autosomal dominant inheritance	10847	SRCAP	OMIM:136140
HP:0000006	Autosomal dominant inheritance	123624	AGBL1	OMIM:615523
HP:0000006	Autosomal dominant inheritance	10483	SEC23B	OMIM:616858
HP:0000006	Autosomal dominant inheritance	5915	RARB	OMIM:615524
HP:0000006	Autosomal dominant inheritance	3914	LAMB3	OMIM:104530
HP:0000006	Autosomal dominant inheritance	1141	CHRNB2	OMIM:605375
HP:0000006	Autosomal dominant inheritance	55997	CFC1	OMIM:605376
HP:0000006	Autosomal dominant inheritance	60529	ALX4	OMIM:615529
HP:0000006	Autosomal dominant inheritance	60529	ALX4	OMIM:609597
HP:0000006	Autosomal dominant inheritance	55737	VPS35	OMIM:614203
HP:0000006	Autosomal dominant inheritance	7874	USP7	OMIM:616863
HP:0000006	Autosomal dominant inheritance	102	ADAM10	OMIM:615537
HP:0000006	Autosomal dominant inheritance	5582	PRKCG	OMIM:605361
HP:0000006	Autosomal dominant inheritance	51428	DDX41	OMIM:616871
HP:0000006	Autosomal dominant inheritance	55780	ERMARD	OMIM:615544
HP:0000006	Autosomal dominant inheritance	10320	IKZF1	OMIM:616873
HP:0000006	Autosomal dominant inheritance	11280	SCN11A	OMIM:615548
HP:0000006	Autosomal dominant inheritance	11280	SCN11A	OMIM:615552
HP:0000006	Autosomal dominant inheritance	6444	SGCD	OMIM:606685
HP:0000006	Autosomal dominant inheritance	6336	SCN10A	OMIM:615551
HP:0000006	Autosomal dominant inheritance	8863	PER3	OMIM:616882
HP:0000006	Autosomal dominant inheritance	6138	RPL15	OMIM:615550
HP:0000006	Autosomal dominant inheritance	80326	WNT10A	OMIM:150400
HP:0000006	Autosomal dominant inheritance	5618	PRLR	OMIM:615555
HP:0000006	Autosomal dominant inheritance	5618	PRLR	OMIM:615554
HP:0000006	Autosomal dominant inheritance	3747	KCNC2	OMIM:619913
HP:0000006	Autosomal dominant inheritance	57647	DHX37	OMIM:273250
HP:0000006	Autosomal dominant inheritance	490	ATP2B1	OMIM:619910
HP:0000006	Autosomal dominant inheritance	50937	CDON	OMIM:614226
HP:0000006	Autosomal dominant inheritance	1857	DVL3	OMIM:616894
HP:0000006	Autosomal dominant inheritance	2890	GRIA1	OMIM:619927
HP:0000006	Autosomal dominant inheritance	2741	GLRA1	OMIM:149400
HP:0000006	Autosomal dominant inheritance	10243	GPHN	OMIM:149400
HP:0000006	Autosomal dominant inheritance	9790	BMS1	OMIM:107600
HP:0000006	Autosomal dominant inheritance	10558	SPTLC1	OMIM:162400
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:606658
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:117360
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:206700
HP:0000006	Autosomal dominant inheritance	4791	NFKB2	OMIM:615577
HP:0000006	Autosomal dominant inheritance	5455	POU3F3	OMIM:618604
HP:0000006	Autosomal dominant inheritance	81545	FBXO38	OMIM:615575
HP:0000006	Autosomal dominant inheritance	9757	KMT2B	OMIM:619934
HP:0000006	Autosomal dominant inheritance	9757	KMT2B	OMIM:617284
HP:0000006	Autosomal dominant inheritance	5430	POLR2A	OMIM:618603
HP:0000006	Autosomal dominant inheritance	4848	CNOT2	OMIM:618608
HP:0000006	Autosomal dominant inheritance	4340	MOG	OMIM:614250
HP:0000006	Autosomal dominant inheritance	2902	GRIN1	OMIM:614254
HP:0000006	Autosomal dominant inheritance	1981	EIF4G1	OMIM:614251
HP:0000006	Autosomal dominant inheritance	7043	TGFB3	OMIM:615582
HP:0000006	Autosomal dominant inheritance	7043	TGFB3	OMIM:107970
HP:0000006	Autosomal dominant inheritance	22827	PUF60	OMIM:615583
HP:0000006	Autosomal dominant inheritance	2036	EPB41L1	OMIM:614257
HP:0000006	Autosomal dominant inheritance	3034	HAL	OMIM:235800
HP:0000006	Autosomal dominant inheritance	10369	CACNG2	OMIM:614256
HP:0000006	Autosomal dominant inheritance	406932	MIR140	OMIM:618618
HP:0000006	Autosomal dominant inheritance	54796	BNC2	OMIM:618612
HP:0000006	Autosomal dominant inheritance	58499	ZNF462	OMIM:618619
HP:0000006	Autosomal dominant inheritance	3299	HSF4	OMIM:116800
HP:0000006	Autosomal dominant inheritance	10194	TSHZ1	OMIM:607842
HP:0000006	Autosomal dominant inheritance	776	CACNA1D	OMIM:615474
HP:0000006	Autosomal dominant inheritance	335	APOA1	OMIM:619836
HP:0000006	Autosomal dominant inheritance	335	APOA1	OMIM:105200
HP:0000006	Autosomal dominant inheritance	23135	KDM6B	OMIM:618505
HP:0000006	Autosomal dominant inheritance	6659	SOX4	OMIM:618506
HP:0000006	Autosomal dominant inheritance	81570	CLPB	OMIM:619835
HP:0000006	Autosomal dominant inheritance	81570	CLPB	OMIM:619813
HP:0000006	Autosomal dominant inheritance	27022	FOXD3	OMIM:607836
HP:0000006	Autosomal dominant inheritance	4653	MYOC	OMIM:137750
HP:0000006	Autosomal dominant inheritance	54332	GDAP1	OMIM:607831
HP:0000006	Autosomal dominant inheritance	56704	JPH1	OMIM:607831
HP:0000006	Autosomal dominant inheritance	51807	TUBA8	OMIM:619840
HP:0000006	Autosomal dominant inheritance	9578	CDC42BPB	OMIM:619841
HP:0000006	Autosomal dominant inheritance	80816	ASXL3	OMIM:615485
HP:0000006	Autosomal dominant inheritance	56616	DIABLO	OMIM:614152
HP:0000006	Autosomal dominant inheritance	10528	NOP56	OMIM:614153
HP:0000006	Autosomal dominant inheritance	644	BLVRA	OMIM:614156
HP:0000006	Autosomal dominant inheritance	55904	KMT2E	OMIM:618512
HP:0000006	Autosomal dominant inheritance	90	ACVR1	OMIM:135100
HP:0000006	Autosomal dominant inheritance	6772	STAT1	OMIM:614162
HP:0000006	Autosomal dominant inheritance	6772	STAT1	OMIM:614892
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:260350
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:155600
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:175200
HP:0000006	Autosomal dominant inheritance	818	CAMK2G	OMIM:618522
HP:0000006	Autosomal dominant inheritance	8642	DCHS1	OMIM:607829
HP:0000006	Autosomal dominant inheritance	1407	CRY1	OMIM:614163
HP:0000006	Autosomal dominant inheritance	64834	ELOVL1	OMIM:618527
HP:0000006	Autosomal dominant inheritance	84146	ZNF644	OMIM:614167
HP:0000006	Autosomal dominant inheritance	2770	GNAI1	OMIM:619854
HP:0000006	Autosomal dominant inheritance	1733	DIO1	OMIM:619855
HP:0000006	Autosomal dominant inheritance	5139	PDE3A	OMIM:112410
HP:0000006	Autosomal dominant inheritance	23347	SMCHD1	OMIM:603457
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:614172
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:614038
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8789	FBP2	OMIM:619864
HP:0000006	Autosomal dominant inheritance	23327	NEDD4L	OMIM:617201
HP:0000006	Autosomal dominant inheritance	4322	MMP13	OMIM:602111
HP:0000006	Autosomal dominant inheritance	10621	POLR3F	OMIM:619872
HP:0000006	Autosomal dominant inheritance	26038	CHD5	OMIM:619873
HP:0000006	Autosomal dominant inheritance	10935	PRDX3	OMIM:619871
HP:0000006	Autosomal dominant inheritance	845	CASQ2	OMIM:604772
HP:0000006	Autosomal dominant inheritance	10345	TRDN	OMIM:604772
HP:0000006	Autosomal dominant inheritance	30813	VSX1	OMIM:614195
HP:0000006	Autosomal dominant inheritance	30813	VSX1	OMIM:148300
HP:0000006	Autosomal dominant inheritance	9276	COPB2	OMIM:619884
HP:0000006	Autosomal dominant inheritance	56098	PCDHGC4	OMIM:619880
HP:0000006	Autosomal dominant inheritance	24145	PANX1	OMIM:618550
HP:0000006	Autosomal dominant inheritance	2555	GABRA2	OMIM:618557
HP:0000006	Autosomal dominant inheritance	2558	GABRA5	OMIM:618559
HP:0000006	Autosomal dominant inheritance	1749	DLX5	OMIM:183600
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:180550
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:180500
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:137600
HP:0000006	Autosomal dominant inheritance	8974	P4HA2	OMIM:617238
HP:0000006	Autosomal dominant inheritance	6533	SLC6A6	OMIM:145350
HP:0000006	Autosomal dominant inheritance	5881	RAC3	OMIM:618577
HP:0000006	Autosomal dominant inheritance	338	APOB	OMIM:144010
HP:0000006	Autosomal dominant inheritance	203859	ANO5	OMIM:166260
HP:0000006	Autosomal dominant inheritance	2161	F12	OMIM:610618
HP:0000006	Autosomal dominant inheritance	94	ACVRL1	OMIM:600376
HP:0000006	Autosomal dominant inheritance	1173	AP2M1	OMIM:618587
HP:0000006	Autosomal dominant inheritance	60675	PROK2	OMIM:610628
HP:0000006	Autosomal dominant inheritance	6229	RPS24	OMIM:610629
HP:0000006	Autosomal dominant inheritance	123606	NIPA1	OMIM:600363
HP:0000006	Autosomal dominant inheritance	153	ADRB1	OMIM:618591
HP:0000006	Autosomal dominant inheritance	7707	ZNF148	OMIM:617260
HP:0000006	Autosomal dominant inheritance	57520	HECW2	OMIM:617268
HP:0000006	Autosomal dominant inheritance	1760	DMPK	OMIM:160900
HP:0000006	Autosomal dominant inheritance	64388	GREM2	OMIM:617275
HP:0000006	Autosomal dominant inheritance	6530	SLC6A2	OMIM:604715
HP:0000006	Autosomal dominant inheritance	57522	SRGAP1	OMIM:188470
HP:0000006	Autosomal dominant inheritance	9562	MINPP1	OMIM:188470
HP:0000006	Autosomal dominant inheritance	551	AVP	OMIM:125700
HP:0000006	Autosomal dominant inheritance	7136	TNNI2	OMIM:601680
HP:0000006	Autosomal dominant inheritance	4635	MYL4	OMIM:617280
HP:0000006	Autosomal dominant inheritance	155	ADRB3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	7352	UCP3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	8431	NR0B2	OMIM:601665
HP:0000006	Autosomal dominant inheritance	9607	CARTPT	OMIM:601665
HP:0000006	Autosomal dominant inheritance	5443	POMC	OMIM:601665
HP:0000006	Autosomal dominant inheritance	51738	GHRL	OMIM:601665
HP:0000006	Autosomal dominant inheritance	9672	SDC3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	181	AGRP	OMIM:601665
HP:0000006	Autosomal dominant inheritance	57498	KIDINS220	OMIM:617296
HP:0000006	Autosomal dominant inheritance	54800	KLHL24	OMIM:617294
HP:0000006	Autosomal dominant inheritance	54949	SDHAF2	OMIM:601650
HP:0000006	Autosomal dominant inheritance	2628	GATM	OMIM:134600
HP:0000006	Autosomal dominant inheritance	23067	SETD1B	OMIM:619000
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613703
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613702
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613704
HP:0000006	Autosomal dominant inheritance	2668	GDNF	OMIM:613711
HP:0000006	Autosomal dominant inheritance	3110	MNX1	OMIM:176450
HP:0000006	Autosomal dominant inheritance	1371	CPOX	OMIM:121300
HP:0000006	Autosomal dominant inheritance	51082	POLR1D	OMIM:613717
HP:0000006	Autosomal dominant inheritance	80217	CFAP43	OMIM:236690
HP:0000006	Autosomal dominant inheritance	8910	SGCE	OMIM:159900
HP:0000006	Autosomal dominant inheritance	3785	KCNQ2	OMIM:613720
HP:0000006	Autosomal dominant inheritance	3785	KCNQ2	OMIM:121200
HP:0000006	Autosomal dominant inheritance	8914	TIMELESS	OMIM:620015
HP:0000006	Autosomal dominant inheritance	55294	FBXW7	OMIM:620012
HP:0000006	Autosomal dominant inheritance	7403	KDM6A	OMIM:147920
HP:0000006	Autosomal dominant inheritance	128674	PROKR2	OMIM:244200
HP:0000006	Autosomal dominant inheritance	176	ACAN	OMIM:608361
HP:0000006	Autosomal dominant inheritance	176	ACAN	OMIM:165800
HP:0000006	Autosomal dominant inheritance	6662	SOX9	OMIM:114290
HP:0000006	Autosomal dominant inheritance	1559	CYP2C9	OMIM:122700
HP:0000006	Autosomal dominant inheritance	79001	VKORC1	OMIM:122700
HP:0000006	Autosomal dominant inheritance	5921	RASA1	OMIM:608354
HP:0000006	Autosomal dominant inheritance	9750	RIPOR2	OMIM:607017
HP:0000006	Autosomal dominant inheritance	9517	SPTLC2	OMIM:613640
HP:0000006	Autosomal dominant inheritance	23314	SATB2	OMIM:612313
HP:0000006	Autosomal dominant inheritance	80216	ALPK1	OMIM:614979
HP:0000006	Autosomal dominant inheritance	2903	GRIN2A	OMIM:245570
HP:0000006	Autosomal dominant inheritance	23118	TAB2	OMIM:614980
HP:0000006	Autosomal dominant inheritance	3418	IDH2	OMIM:613657
HP:0000006	Autosomal dominant inheritance	338567	KCNK18	OMIM:613656
HP:0000006	Autosomal dominant inheritance	1785	DNM2	OMIM:160150
HP:0000006	Autosomal dominant inheritance	1785	DNM2	OMIM:606482
HP:0000006	Autosomal dominant inheritance	64419	MTMR14	OMIM:160150
HP:0000006	Autosomal dominant inheritance	368	ABCC6	OMIM:177850
HP:0000006	Autosomal dominant inheritance	10472	ZBTB18	OMIM:612337
HP:0000006	Autosomal dominant inheritance	5627	PROS1	OMIM:612336
HP:0000006	Autosomal dominant inheritance	8565	YARS1	OMIM:608323
HP:0000006	Autosomal dominant inheritance	4205	MEF2A	OMIM:608320
HP:0000006	Autosomal dominant inheritance	27086	FOXP1	OMIM:613670
HP:0000006	Autosomal dominant inheritance	10661	KLF1	OMIM:613673
HP:0000006	Autosomal dominant inheritance	3329	HSPD1	OMIM:605280
HP:0000006	Autosomal dominant inheritance	64321	SOX17	OMIM:613674
HP:0000006	Autosomal dominant inheritance	51322	WAC	OMIM:616708
HP:0000006	Autosomal dominant inheritance	9455	HOMER2	OMIM:616707
HP:0000006	Autosomal dominant inheritance	7546	ZIC2	OMIM:609637
HP:0000006	Autosomal dominant inheritance	51142	CHCHD2	OMIM:616710
HP:0000006	Autosomal dominant inheritance	144245	ALG10B	OMIM:613688
HP:0000006	Autosomal dominant inheritance	3757	KCNH2	OMIM:613688
HP:0000006	Autosomal dominant inheritance	3757	KCNH2	OMIM:609620
HP:0000006	Autosomal dominant inheritance	3053	SERPIND1	OMIM:612356
HP:0000006	Autosomal dominant inheritance	3736	KCNA1	OMIM:160120
HP:0000006	Autosomal dominant inheritance	406987	MIR204	OMIM:616722
HP:0000006	Autosomal dominant inheritance	3753	KCNE1	OMIM:613695
HP:0000006	Autosomal dominant inheritance	23028	KDM1A	OMIM:616728
HP:0000006	Autosomal dominant inheritance	9780	PIEZO1	OMIM:194380
HP:0000006	Autosomal dominant inheritance	3748	KCNC3	OMIM:605259
HP:0000006	Autosomal dominant inheritance	998	CDC42	OMIM:616737
HP:0000006	Autosomal dominant inheritance	26011	TENM4	OMIM:616736
HP:0000006	Autosomal dominant inheritance	10982	MAPRE2	OMIM:616734
HP:0000006	Autosomal dominant inheritance	2122	MECOM	OMIM:616738
HP:0000006	Autosomal dominant inheritance	6314	ATXN7	OMIM:164500
HP:0000006	Autosomal dominant inheritance	889	KRIT1	OMIM:116860
HP:0000006	Autosomal dominant inheritance	7283	TUBG1	OMIM:615412
HP:0000006	Autosomal dominant inheritance	7128	TNFAIP3	OMIM:616744
HP:0000006	Autosomal dominant inheritance	340719	NANOS1	OMIM:615413
HP:0000006	Autosomal dominant inheritance	3796	KIF2A	OMIM:615411
HP:0000006	Autosomal dominant inheritance	56244	BTNL2	OMIM:612387
HP:0000006	Autosomal dominant inheritance	201973	PRIMPOL	OMIM:615420
HP:0000006	Autosomal dominant inheritance	3178	HNRNPA1	OMIM:615424
HP:0000006	Autosomal dominant inheritance	3178	HNRNPA1	OMIM:615426
HP:0000006	Autosomal dominant inheritance	3181	HNRNPA2B1	OMIM:615422
HP:0000006	Autosomal dominant inheritance	1859	DYRK1A	OMIM:614104
HP:0000006	Autosomal dominant inheritance	79853	TM4SF20	OMIM:615432
HP:0000006	Autosomal dominant inheritance	5592	PRKG1	OMIM:615436
HP:0000006	Autosomal dominant inheritance	23328	SASH1	OMIM:127500
HP:0000006	Autosomal dominant inheritance	3060	HCRT	OMIM:161400
HP:0000006	Autosomal dominant inheritance	56910	STARD7	OMIM:607876
HP:0000006	Autosomal dominant inheritance	491	ATP2B2	OMIM:619804
HP:0000006	Autosomal dominant inheritance	5654	HTRA1	OMIM:616779
HP:0000006	Autosomal dominant inheritance	3123	HLA-DRB1	OMIM:181000
HP:0000006	Autosomal dominant inheritance	347688	TUBB8	OMIM:616780
HP:0000006	Autosomal dominant inheritance	56172	ANKH	OMIM:118600
HP:0000006	Autosomal dominant inheritance	56172	ANKH	OMIM:123000
HP:0000006	Autosomal dominant inheritance	1748	DLX4	OMIM:616788
HP:0000006	Autosomal dominant inheritance	24	ABCA4	OMIM:153800
HP:0000006	Autosomal dominant inheritance	23250	ATP11A	OMIM:619810
HP:0000006	Autosomal dominant inheritance	23389	MED13L	OMIM:616789
HP:0000006	Autosomal dominant inheritance	79875	THSD4	OMIM:619825
HP:0000006	Autosomal dominant inheritance	1297	COL9A1	OMIM:614135
HP:0000006	Autosomal dominant inheritance	54829	ASPN	OMIM:607850
HP:0000006	Autosomal dominant inheritance	8036	SHOC2	OMIM:607721
HP:0000006	Autosomal dominant inheritance	57468	SLC12A5	OMIM:616685
HP:0000006	Autosomal dominant inheritance	3783	KCNN4	OMIM:616689
HP:0000006	Autosomal dominant inheritance	23418	CRB1	OMIM:172870
HP:0000006	Autosomal dominant inheritance	6016	RIT1	OMIM:615355
HP:0000006	Autosomal dominant inheritance	6938	TCF12	OMIM:619718
HP:0000006	Autosomal dominant inheritance	6938	TCF12	OMIM:615314
HP:0000006	Autosomal dominant inheritance	4254	KITLG	OMIM:145250
HP:0000006	Autosomal dominant inheritance	4254	KITLG	OMIM:616697
HP:0000006	Autosomal dominant inheritance	3703	STT3A	OMIM:619714
HP:0000006	Autosomal dominant inheritance	7849	PAX8	OMIM:218700
HP:0000006	Autosomal dominant inheritance	3020	H3-3A	OMIM:619720
HP:0000006	Autosomal dominant inheritance	3021	H3-3B	OMIM:619721
HP:0000006	Autosomal dominant inheritance	3029	HAGH	OMIM:614033
HP:0000006	Autosomal dominant inheritance	4598	MVK	OMIM:175900
HP:0000006	Autosomal dominant inheritance	1106	CHD2	OMIM:615369
HP:0000006	Autosomal dominant inheritance	3781	KCNN2	OMIM:619724
HP:0000006	Autosomal dominant inheritance	3781	KCNN2	OMIM:619725
HP:0000006	Autosomal dominant inheritance	60482	SLC5A7	OMIM:158580
HP:0000006	Autosomal dominant inheritance	63976	PRDM16	OMIM:615373
HP:0000006	Autosomal dominant inheritance	4160	MC4R	OMIM:618406
HP:0000006	Autosomal dominant inheritance	6327	SCN2B	OMIM:615378
HP:0000006	Autosomal dominant inheritance	1009	CDH11	OMIM:619736
HP:0000006	Autosomal dominant inheritance	7020	TFAP2A	OMIM:113620
HP:0000006	Autosomal dominant inheritance	55703	POLR3B	OMIM:619742
HP:0000006	Autosomal dominant inheritance	5442	POLRMT	OMIM:619743
HP:0000006	Autosomal dominant inheritance	51271	UBAP1	OMIM:618418
HP:0000006	Autosomal dominant inheritance	55012	PPP2R3C	OMIM:618420
HP:0000006	Autosomal dominant inheritance	3572	IL6ST	OMIM:619752
HP:0000006	Autosomal dominant inheritance	3572	IL6ST	OMIM:619750
HP:0000006	Autosomal dominant inheritance	8363	H4C11	OMIM:619759
HP:0000006	Autosomal dominant inheritance	51604	PIGT	OMIM:615399
HP:0000006	Autosomal dominant inheritance	8364	H4C3	OMIM:619758
HP:0000006	Autosomal dominant inheritance	53335	BCL11A	OMIM:617101
HP:0000006	Autosomal dominant inheritance	6942	TCF20	OMIM:618430
HP:0000006	Autosomal dominant inheritance	6506	SLC1A2	OMIM:617105
HP:0000006	Autosomal dominant inheritance	7140	TNNT3	OMIM:618435
HP:0000006	Autosomal dominant inheritance	6117	RPA1	OMIM:619767
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:618436
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:178110
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:193700
HP:0000006	Autosomal dominant inheritance	7248	TSC1	OMIM:191100
HP:0000006	Autosomal dominant inheritance	9993	DGCR2	OMIM:192430
HP:0000006	Autosomal dominant inheritance	8220	ESS2	OMIM:192430
HP:0000006	Autosomal dominant inheritance	8214	DGCR6	OMIM:192430
HP:0000006	Autosomal dominant inheritance	54487	DGCR8	OMIM:192430
HP:0000006	Autosomal dominant inheritance	54894	RNF43	OMIM:617108
HP:0000006	Autosomal dominant inheritance	51341	ZBTB7A	OMIM:619769
HP:0000006	Autosomal dominant inheritance	2035	EPB41	OMIM:611804
HP:0000006	Autosomal dominant inheritance	23162	MAPK8IP3	OMIM:618443
HP:0000006	Autosomal dominant inheritance	2562	GABRB3	OMIM:617113
HP:0000006	Autosomal dominant inheritance	2562	GABRB3	OMIM:612269
HP:0000006	Autosomal dominant inheritance	7867	MAPKAPK3	OMIM:617111
HP:0000006	Autosomal dominant inheritance	8131	NPRL3	OMIM:617118
HP:0000006	Autosomal dominant inheritance	10641	NPRL2	OMIM:617116
HP:0000006	Autosomal dominant inheritance	23219	FBXO28	OMIM:619777
HP:0000006	Autosomal dominant inheritance	9496	TBX4	OMIM:147891
HP:0000006	Autosomal dominant inheritance	6330	SCN4B	OMIM:611819
HP:0000006	Autosomal dominant inheritance	5083	PAX9	OMIM:604625
HP:0000006	Autosomal dominant inheritance	3763	KCNJ6	OMIM:614098
HP:0000006	Autosomal dominant inheritance	120766137	HRURF	OMIM:146550
HP:0000006	Autosomal dominant inheritance	5062	PAK2	OMIM:618458
HP:0000006	Autosomal dominant inheritance	10142	AKAP9	OMIM:611820
HP:0000006	Autosomal dominant inheritance	30817	ADGRE2	OMIM:125630
HP:0000006	Autosomal dominant inheritance	11281	POU6F2	OMIM:601583
HP:0000006	Autosomal dominant inheritance	353116	RILPL1	OMIM:619790
HP:0000006	Autosomal dominant inheritance	8402	SLC25A11	OMIM:618464
HP:0000006	Autosomal dominant inheritance	1071	CETP	OMIM:143470
HP:0000006	Autosomal dominant inheritance	4143	MAT1A	OMIM:250850
HP:0000006	Autosomal dominant inheritance	3786	KCNQ3	OMIM:121201
HP:0000006	Autosomal dominant inheritance	27235	COQ2	OMIM:146500
HP:0000006	Autosomal dominant inheritance	8462	KLF11	OMIM:610508
HP:0000006	Autosomal dominant inheritance	51412	ACTL6B	OMIM:618470
HP:0000006	Autosomal dominant inheritance	1743	DLST	OMIM:618475
HP:0000006	Autosomal dominant inheritance	54765	TRIM44	OMIM:617142
HP:0000006	Autosomal dominant inheritance	27286	SRPX2	OMIM:300643
HP:0000006	Autosomal dominant inheritance	26610	ELP4	OMIM:617141
HP:0000006	Autosomal dominant inheritance	6651	SON	OMIM:617140
HP:0000006	Autosomal dominant inheritance	1815	DRD4	OMIM:143465
HP:0000006	Autosomal dominant inheritance	362	AQP5	OMIM:600231
HP:0000006	Autosomal dominant inheritance	2560	GABRB1	OMIM:617153
HP:0000006	Autosomal dominant inheritance	1041	CDSN	OMIM:146520
HP:0000006	Autosomal dominant inheritance	1108	CHD4	OMIM:617159
HP:0000006	Autosomal dominant inheritance	5313	PKLR	OMIM:102900
HP:0000006	Autosomal dominant inheritance	6712	SPTBN2	OMIM:600224
HP:0000006	Autosomal dominant inheritance	372	ARCN1	OMIM:617164
HP:0000006	Autosomal dominant inheritance	22808	MRAS	OMIM:618499
HP:0000006	Autosomal dominant inheritance	2906	GRIN2D	OMIM:617162
HP:0000006	Autosomal dominant inheritance	4015	LOX	OMIM:617168
HP:0000006	Autosomal dominant inheritance	54538	ROBO4	OMIM:618496
HP:0000006	Autosomal dominant inheritance	2257	FGF12	OMIM:617166
HP:0000006	Autosomal dominant inheritance	2192	FBLN1	OMIM:608180
HP:0000006	Autosomal dominant inheritance	1180	CLCN1	OMIM:160800
HP:0000006	Autosomal dominant inheritance	9343	EFTUD2	OMIM:610536
HP:0000006	Autosomal dominant inheritance	9791	PTDSS1	OMIM:151050
HP:0000006	Autosomal dominant inheritance	7007	TECTA	OMIM:601543
HP:0000006	Autosomal dominant inheritance	1415	CRYBB2	OMIM:601547
HP:0000006	Autosomal dominant inheritance	716	C1S	OMIM:617174
HP:0000006	Autosomal dominant inheritance	57514	ARHGAP31	OMIM:100300
HP:0000006	Autosomal dominant inheritance	6154	RPL26	OMIM:614900
HP:0000006	Autosomal dominant inheritance	783	CACNB2	OMIM:611876
HP:0000006	Autosomal dominant inheritance	55210	ATAD3A	OMIM:617183
HP:0000006	Autosomal dominant inheritance	1298	COL9A2	OMIM:600204
HP:0000006	Autosomal dominant inheritance	23516	SLC39A14	OMIM:144755
HP:0000006	Autosomal dominant inheritance	55252	ASXL2	OMIM:617190
HP:0000006	Autosomal dominant inheritance	283	ANG	OMIM:611895
HP:0000006	Autosomal dominant inheritance	6041	RNASEL	OMIM:601518
HP:0000006	Autosomal dominant inheritance	8996	NOL3	OMIM:614937
HP:0000006	Autosomal dominant inheritance	3480	IGF1R	OMIM:270450
HP:0000006	Autosomal dominant inheritance	10299	MARCHF6	OMIM:613608
HP:0000006	Autosomal dominant inheritance	26511	CHIC2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8021	NUP214	OMIM:601626
HP:0000006	Autosomal dominant inheritance	1050	CEBPA	OMIM:601626
HP:0000006	Autosomal dominant inheritance	2322	FLT3	OMIM:601626
HP:0000006	Autosomal dominant inheritance	6455	SH3GL1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	4869	NPM1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8028	MLLT10	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8301	PICALM	OMIM:601626
HP:0000006	Autosomal dominant inheritance	4026	LPP	OMIM:601626
HP:0000006	Autosomal dominant inheritance	146227	BEAN1	OMIM:117210
HP:0000006	Autosomal dominant inheritance	124404	SEPTIN12	OMIM:614822
HP:0000006	Autosomal dominant inheritance	11136	SLC7A9	OMIM:220100
HP:0000006	Autosomal dominant inheritance	6519	SLC3A1	OMIM:220100
HP:0000006	Autosomal dominant inheritance	50940	PDE11A	OMIM:610475
HP:0000006	Autosomal dominant inheritance	1824	DSC2	OMIM:610476
HP:0000006	Autosomal dominant inheritance	26012	NSMF	OMIM:614838
HP:0000006	Autosomal dominant inheritance	56262	LRRC8A	OMIM:613506
HP:0000006	Autosomal dominant inheritance	57492	ARID1B	OMIM:135900
HP:0000006	Autosomal dominant inheritance	23090	ZNF423	OMIM:614844
HP:0000006	Autosomal dominant inheritance	9639	ARHGEF10	OMIM:608236
HP:0000006	Autosomal dominant inheritance	7187	TRAF3	OMIM:614849
HP:0000006	Autosomal dominant inheritance	148022	TICAM1	OMIM:614850
HP:0000006	Autosomal dominant inheritance	6911	TBX6	OMIM:122600
HP:0000006	Autosomal dominant inheritance	55717	WDR11	OMIM:614858
HP:0000006	Autosomal dominant inheritance	22953	P2RX2	OMIM:608224
HP:0000006	Autosomal dominant inheritance	4069	LYZ	OMIM:105200
HP:0000006	Autosomal dominant inheritance	2243	FGA	OMIM:105200
HP:0000006	Autosomal dominant inheritance	567	B2M	OMIM:105200
HP:0000006	Autosomal dominant inheritance	5190	PEX6	OMIM:614863
HP:0000006	Autosomal dominant inheritance	4878	NPPA	OMIM:612201
HP:0000006	Autosomal dominant inheritance	4306	NR3C2	OMIM:177735
HP:0000006	Autosomal dominant inheritance	4306	NR3C2	OMIM:605115
HP:0000006	Autosomal dominant inheritance	9568	GABBR2	OMIM:617903
HP:0000006	Autosomal dominant inheritance	9568	GABBR2	OMIM:617904
HP:0000006	Autosomal dominant inheritance	84634	KISS1R	OMIM:176400
HP:0000006	Autosomal dominant inheritance	2056	EPO	OMIM:617907
HP:0000006	Autosomal dominant inheritance	9180	OSMR	OMIM:105250
HP:0000006	Autosomal dominant inheritance	9394	HS6ST1	OMIM:614880
HP:0000006	Autosomal dominant inheritance	10743	RAI1	OMIM:182290
HP:0000006	Autosomal dominant inheritance	140628	GATA5	OMIM:617912
HP:0000006	Autosomal dominant inheritance	867	CBL	OMIM:613563
HP:0000006	Autosomal dominant inheritance	867	CBL	OMIM:607785
HP:0000006	Autosomal dominant inheritance	3394	IRF8	OMIM:614893
HP:0000006	Autosomal dominant inheritance	22858	CILK1	OMIM:617924
HP:0000006	Autosomal dominant inheritance	10371	SEMA3A	OMIM:614897
HP:0000006	Autosomal dominant inheritance	113457	TUBA3D	OMIM:617928
HP:0000006	Autosomal dominant inheritance	6310	ATXN1	OMIM:164400
HP:0000006	Autosomal dominant inheritance	8729	GBF1	OMIM:606483
HP:0000006	Autosomal dominant inheritance	3741	KCNA5	OMIM:612240
HP:0000006	Autosomal dominant inheritance	9698	PUM1	OMIM:617931
HP:0000006	Autosomal dominant inheritance	6328	SCN3A	OMIM:617935
HP:0000006	Autosomal dominant inheritance	6328	SCN3A	OMIM:617938
HP:0000006	Autosomal dominant inheritance	94137	RP1L1	OMIM:613587
HP:0000006	Autosomal dominant inheritance	6710	SPTB	OMIM:617948
HP:0000006	Autosomal dominant inheritance	6710	SPTB	OMIM:616649
HP:0000006	Autosomal dominant inheritance	4297	KMT2A	OMIM:605130
HP:0000006	Autosomal dominant inheritance	3047	HBG1	OMIM:141749
HP:0000006	Autosomal dominant inheritance	50615	IL21R	OMIM:147050
HP:0000006	Autosomal dominant inheritance	3566	IL4R	OMIM:147050
HP:0000006	Autosomal dominant inheritance	2206	MS4A2	OMIM:147050
HP:0000006	Autosomal dominant inheritance	3035	HARS1	OMIM:616625
HP:0000006	Autosomal dominant inheritance	2978	GUCA1A	OMIM:602093
HP:0000006	Autosomal dominant inheritance	23092	ARHGAP26	OMIM:607785
HP:0000006	Autosomal dominant inheritance	84168	ANTXR1	OMIM:602089
HP:0000006	Autosomal dominant inheritance	3791	KDR	OMIM:602089
HP:0000006	Autosomal dominant inheritance	811	CALR	OMIM:187950
HP:0000006	Autosomal dominant inheritance	7066	THPO	OMIM:187950
HP:0000006	Autosomal dominant inheritance	1508	CTSB	OMIM:148370
HP:0000006	Autosomal dominant inheritance	54664	TMEM106B	OMIM:617964
HP:0000006	Autosomal dominant inheritance	2224	FDPS	OMIM:616631
HP:0000006	Autosomal dominant inheritance	2475	MTOR	OMIM:616638
HP:0000006	Autosomal dominant inheritance	93986	FOXP2	OMIM:602081
HP:0000006	Autosomal dominant inheritance	8820	HESX1	OMIM:182230
HP:0000006	Autosomal dominant inheritance	57338	JPH3	OMIM:606438
HP:0000006	Autosomal dominant inheritance	9368	NHERF1	OMIM:612287
HP:0000006	Autosomal dominant inheritance	6569	SLC34A1	OMIM:612286
HP:0000006	Autosomal dominant inheritance	29957	SLC25A24	OMIM:612289
HP:0000006	Autosomal dominant inheritance	3199	HOXA2	OMIM:612290
HP:0000006	Autosomal dominant inheritance	51305	KCNK9	OMIM:612292
HP:0000006	Autosomal dominant inheritance	54870	QRICH1	OMIM:617982
HP:0000006	Autosomal dominant inheritance	23509	POFUT1	OMIM:615327
HP:0000006	Autosomal dominant inheritance	5296	PIK3R2	OMIM:603387
HP:0000006	Autosomal dominant inheritance	6497	SKI	OMIM:182212
HP:0000006	Autosomal dominant inheritance	55023	PHIP	OMIM:617991
HP:0000006	Autosomal dominant inheritance	6915	TBXA2R	OMIM:614009
HP:0000006	Autosomal dominant inheritance	103	ADAR	OMIM:127400
HP:0000006	Autosomal dominant inheritance	136371	ASB10	OMIM:603383
HP:0000006	Autosomal dominant inheritance	4093	SMAD9	OMIM:615342
HP:0000006	Autosomal dominant inheritance	3777	KCNK3	OMIM:615344
HP:0000006	Autosomal dominant inheritance	6688	SPI1	OMIM:619707
HP:0000006	Autosomal dominant inheritance	8328	GFI1B	OMIM:187900
HP:0001417	X-linked inheritance	1121	CHM	OMIM:303100
HP:0001417	X-linked inheritance	9210	BMP15	OMIM:300510
HP:0001417	X-linked inheritance	23418	CRB1	OMIM:172870
HP:0001417	X-linked inheritance	6658	SOX3	OMIM:300123
HP:0001417	X-linked inheritance	6658	SOX3	OMIM:312000
HP:0001417	X-linked inheritance	55869	HDAC8	OMIM:300882
HP:0001417	X-linked inheritance	57526	PCDH19	OMIM:300088
HP:0001417	X-linked inheritance	79868	ALG13	OMIM:300884
HP:0001417	X-linked inheritance	7552	ZNF711	OMIM:300803
HP:0001417	X-linked inheritance	2332	FMR1	OMIM:311360
HP:0001417	X-linked inheritance	3149	HMGB3	OMIM:300915
HP:0001417	X-linked inheritance	1287	COL4A5	OMIM:301050
HP:0001417	X-linked inheritance	54539	NDUFB11	OMIM:301021
HP:0001417	X-linked inheritance	54885	TBC1D8B	OMIM:301028
HP:0001417	X-linked inheritance	2664	GDI1	OMIM:300849
HP:0001417	X-linked inheritance	50945	TBX22	OMIM:302905
HP:0001417	X-linked inheritance	50945	TBX22	OMIM:303400
HP:0001417	X-linked inheritance	6102	RP2	OMIM:312600
HP:0001417	X-linked inheritance	90167	FRMD7	OMIM:310700
HP:0001417	X-linked inheritance	6473	SHOX	OMIM:300582
HP:0001417	X-linked inheritance	1641	DCX	OMIM:300067
HP:0001417	X-linked inheritance	6907	TBL1X	OMIM:301033
HP:0001417	X-linked inheritance	4007	PRICKLE3	OMIM:308905
HP:0001417	X-linked inheritance	10149	ADGRG2	OMIM:300985
HP:0001417	X-linked inheritance	51114	ZDHHC9	OMIM:300799
HP:0001417	X-linked inheritance	54880	BCOR	OMIM:309800
HP:0001417	X-linked inheritance	22866	CNKSR2	OMIM:301008
HP:0001417	X-linked inheritance	63932	STEEP1	OMIM:301013
HP:0001417	X-linked inheritance	407	ARR3	OMIM:301010
HP:0001417	X-linked inheritance	7504	XK	OMIM:300842
HP:0001417	X-linked inheritance	6197	RPS6KA3	OMIM:300844
HP:0001417	X-linked inheritance	2556	GABRA3	OMIM:301091
HP:0001417	X-linked inheritance	7030	TFE3	OMIM:301066
HP:0001417	X-linked inheritance	57502	NLGN4X	OMIM:300495
HP:0001417	X-linked inheritance	1438	CSF2RA	OMIM:300770
HP:0001417	X-linked inheritance	4810	NHS	OMIM:302200
HP:0001417	X-linked inheritance	51311	TLR8	OMIM:301078
HP:0001417	X-linked inheritance	2742	GLRA2	OMIM:301076
HP:0001417	X-linked inheritance	93953	GCNA	OMIM:301077
HP:0001417	X-linked inheritance	54413	NLGN3	OMIM:300425
HP:0001417	X-linked inheritance	83550	GPR101	OMIM:300943
HP:0001417	X-linked inheritance	8573	CASK	OMIM:300422
HP:0001417	X-linked inheritance	10075	HUWE1	OMIM:309590
HP:0001417	X-linked inheritance	3476	IGBP1	OMIM:300472
HP:0001417	X-linked inheritance	8243	SMC1A	OMIM:300590
HP:0001417	X-linked inheritance	778	CACNA1F	OMIM:300476
HP:0001417	X-linked inheritance	8450	CUL4B	OMIM:300354
HP:0001417	X-linked inheritance	10134	BCAP31	OMIM:300475
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300232
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:310490
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300614
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300816
HP:0001417	X-linked inheritance	6535	SLC6A8	OMIM:300352
HP:0001417	X-linked inheritance	27316	RBMX	OMIM:300238
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:300911
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:300423
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:301045
HP:0001417	X-linked inheritance	5009	OTC	OMIM:311250
HP:0001417	X-linked inheritance	4693	NDP	OMIM:310600
HP:0001417	X-linked inheritance	4693	NDP	OMIM:305390
HP:0001417	X-linked inheritance	1736	DKC1	OMIM:305000
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:304150
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:300489
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:309400
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:308990
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:300009
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:300554
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:310468
HP:0001417	X-linked inheritance	2158	F9	OMIM:306900
HP:0001417	X-linked inheritance	2158	F9	OMIM:300807
HP:0001417	X-linked inheritance	4983	OPHN1	OMIM:300486
HP:0001417	X-linked inheritance	10479	SLC9A6	OMIM:300243
HP:0001417	X-linked inheritance	4281	MID1	OMIM:300000
HP:0001417	X-linked inheritance	24137	KIF4A	OMIM:300923
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:300367
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:314050
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:301083
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:300835
HP:0001417	X-linked inheritance	6855	SYP	OMIM:300802
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:300918
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:308800
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:301014
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:308205
HP:0001417	X-linked inheritance	8239	USP9X	OMIM:300919
HP:0001417	X-linked inheritance	1288	COL4A6	OMIM:300914
HP:0001417	X-linked inheritance	2273	FHL1	OMIM:300696
HP:0001417	X-linked inheritance	2273	FHL1	OMIM:300280
HP:0001417	X-linked inheritance	7102	TSPAN7	OMIM:300210
HP:0001417	X-linked inheritance	1896	EDA	OMIM:305100
HP:0001417	X-linked inheritance	2892	GRIA3	OMIM:300699
HP:0001417	X-linked inheritance	6103	RPGR	OMIM:300455
HP:0001417	X-linked inheritance	6103	RPGR	OMIM:300834
HP:0001417	X-linked inheritance	22	ABCB7	OMIM:301310
HP:0001417	X-linked inheritance	1678	TIMM8A	OMIM:304700
HP:0001417	X-linked inheritance	215	ABCD1	OMIM:300100
HP:0001417	X-linked inheritance	633	BGN	OMIM:300106
HP:0001417	X-linked inheritance	6399	TRAPPC2	OMIM:313400
HP:0001417	X-linked inheritance	8241	RBM10	OMIM:311900
HP:0001417	X-linked inheritance	30011	SH3KBP1	OMIM:300310
HP:0001417	X-linked inheritance	4204	MECP2	OMIM:300673
HP:0001417	X-linked inheritance	4204	MECP2	OMIM:300055
HP:0001417	X-linked inheritance	4204	MECP2	OMIM:300260
HP:0001417	X-linked inheritance	4952	OCRL	OMIM:300555
HP:0001417	X-linked inheritance	4952	OCRL	OMIM:309000
HP:0001417	X-linked inheritance	65109	UPF3B	OMIM:300676
HP:0001417	X-linked inheritance	5956	OPN1LW	OMIM:303700
HP:0001417	X-linked inheritance	5956	OPN1LW	OMIM:303900
HP:0001417	X-linked inheritance	2652	OPN1MW	OMIM:303700
HP:0001417	X-linked inheritance	2652	OPN1MW	OMIM:303800
HP:0001417	X-linked inheritance	5255	PHKA1	OMIM:300559
HP:0001417	X-linked inheritance	5063	PAK3	OMIM:300558
HP:0001417	X-linked inheritance	367	AR	OMIM:312300
HP:0001417	X-linked inheritance	367	AR	OMIM:300633
HP:0001417	X-linked inheritance	367	AR	OMIM:300068
HP:0001417	X-linked inheritance	367	AR	OMIM:313200
HP:0001417	X-linked inheritance	54440	SASH3	OMIM:301082
HP:0001417	X-linked inheritance	56159	TEX11	OMIM:309120
HP:0001417	X-linked inheritance	492	ATP2B3	OMIM:302500
HP:0001417	X-linked inheritance	3251	HPRT1	OMIM:300322
HP:0001417	X-linked inheritance	3251	HPRT1	OMIM:300323
HP:0001417	X-linked inheritance	190	NR0B1	OMIM:300200
HP:0001417	X-linked inheritance	2187	FANCB	OMIM:314390
HP:0001417	X-linked inheritance	2187	FANCB	OMIM:300514
HP:0001417	X-linked inheritance	7547	ZIC3	OMIM:314390
HP:0001417	X-linked inheritance	7547	ZIC3	OMIM:306955
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300209
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300424
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300804
HP:0001417	X-linked inheritance	554	AVPR2	OMIM:304800
HP:0001417	X-linked inheritance	554	AVPR2	OMIM:300539
HP:0001417	X-linked inheritance	6901	TAFAZZIN	OMIM:302060
HP:0001417	X-linked inheritance	9968	MED12	OMIM:305450
HP:0001417	X-linked inheritance	9968	MED12	OMIM:300895
HP:0001417	X-linked inheritance	9968	MED12	OMIM:309520
HP:0001417	X-linked inheritance	2258	FGF13	OMIM:301095
HP:0001417	X-linked inheritance	2258	FGF13	OMIM:301058
HP:0001417	X-linked inheritance	415	ARSL	OMIM:302950
HP:0001417	X-linked inheritance	5354	PLP1	OMIM:312080
HP:0001417	X-linked inheritance	5354	PLP1	OMIM:312920
HP:0001417	X-linked inheritance	8242	KDM5C	OMIM:300534
HP:0001417	X-linked inheritance	5230	PGK1	OMIM:300653
HP:0001417	X-linked inheritance	2717	GLA	OMIM:301500
HP:0001417	X-linked inheritance	3423	IDS	OMIM:309900
HP:0001417	X-linked inheritance	254065	BRWD3	OMIM:300659
HP:0001417	X-linked inheritance	546	ATRX	OMIM:309580
HP:0001417	X-linked inheritance	6611	SMS	OMIM:309583
HP:0001417	X-linked inheritance	81887	LAS1L	OMIM:309585
HP:0001417	X-linked inheritance	9075	CLDN2	OMIM:301060
HP:0001417	X-linked inheritance	2000	ELF4	OMIM:301074
HP:0001417	X-linked inheritance	3730	ANOS1	OMIM:308700
HP:0001417	X-linked inheritance	1536	CYBB	OMIM:306400
HP:0001417	X-linked inheritance	1536	CYBB	OMIM:300645
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:304100
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:303350
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:307000
HP:0001417	X-linked inheritance	23676	SMPX	OMIM:301075
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:300661
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:311070
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:301835
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:304500
HP:0001417	X-linked inheritance	6872	TAF1	OMIM:314250
HP:0001417	X-linked inheritance	6872	TAF1	OMIM:300966
HP:0001417	X-linked inheritance	170302	ARX	OMIM:300419
HP:0001417	X-linked inheritance	170302	ARX	OMIM:308350
HP:0001417	X-linked inheritance	170302	ARX	OMIM:309510
HP:0001417	X-linked inheritance	2719	GPC3	OMIM:312870
HP:0001417	X-linked inheritance	2239	GPC4	OMIM:312870
HP:0001417	X-linked inheritance	2239	GPC4	OMIM:301026
HP:0001417	X-linked inheritance	5277	PIGA	OMIM:301072
HP:0001417	X-linked inheritance	5277	PIGA	OMIM:300868
HP:0001417	X-linked inheritance	8905	AP1S2	OMIM:304340
HP:0001417	X-linked inheritance	9949	AMMECR1	OMIM:300990
HP:0001417	X-linked inheritance	139212	DNAAF6	OMIM:300991
HP:0001417	X-linked inheritance	212	ALAS2	OMIM:300751
HP:0001417	X-linked inheritance	55217	TMLHE	OMIM:300872
HP:0001417	X-linked inheritance	2245	FGD1	OMIM:305400
HP:0001417	X-linked inheritance	10735	STAG2	OMIM:301043
HP:0001417	X-linked inheritance	695	BTK	OMIM:300755
HP:0001417	X-linked inheritance	695	BTK	OMIM:307200
HP:0001417	X-linked inheritance	6134	RPL10	OMIM:300998
HP:0001417	X-linked inheritance	10046	MAMLD1	OMIM:300758
HP:0001417	X-linked inheritance	8517	IKBKG	OMIM:300636
HP:0001417	X-linked inheritance	8517	IKBKG	OMIM:300291
HP:0001417	X-linked inheritance	5199	CFP	OMIM:312060
HP:0001417	X-linked inheritance	331	XIAP	OMIM:300635
HP:0001417	X-linked inheritance	331	XIAP	OMIM:308240
HP:0001417	X-linked inheritance	8473	OGT	OMIM:300997
HP:0001417	X-linked inheritance	1756	DMD	OMIM:310200
HP:0001417	X-linked inheritance	1756	DMD	OMIM:300376
HP:0001417	X-linked inheritance	203547	VMA21	OMIM:310440
HP:0001417	X-linked inheritance	3561	IL2RG	OMIM:312863
HP:0001417	X-linked inheritance	3561	IL2RG	OMIM:300400
HP:0001417	X-linked inheritance	50943	FOXP3	OMIM:304790
HP:0001417	X-linked inheritance	959	CD40LG	OMIM:308230
HP:0001417	X-linked inheritance	55593	OTUD5	OMIM:301056
HP:0001417	X-linked inheritance	286464	CFAP47	OMIM:301059
HP:0001417	X-linked inheritance	84100	ARL6	OMIM:268000
HP:0001417	X-linked inheritance	9227	LRAT	OMIM:268000
HP:0001417	X-linked inheritance	5949	RBP3	OMIM:268000
HP:0001417	X-linked inheritance	7401	CLRN1	OMIM:268000
HP:0001417	X-linked inheritance	5148	PDE6G	OMIM:268000
HP:0001417	X-linked inheritance	1259	CNGA1	OMIM:268000
HP:0001417	X-linked inheritance	23746	AIPL1	OMIM:268000
HP:0001417	X-linked inheritance	6094	ROM1	OMIM:268000
HP:0001417	X-linked inheritance	1406	CRX	OMIM:268000
HP:0001417	X-linked inheritance	157657	CFAP418	OMIM:268000
HP:0001417	X-linked inheritance	1193	CLIC2	OMIM:300886
HP:0001417	X-linked inheritance	6567	SLC16A2	OMIM:300523
HP:0001417	X-linked inheritance	3547	IGSF1	OMIM:300888
HP:0001417	X-linked inheritance	51284	TLR7	OMIM:301051
HP:0001417	X-linked inheritance	4068	SH2D1A	OMIM:308240
HP:0001417	X-linked inheritance	2710	GK	OMIM:307030
HP:0001417	X-linked inheritance	84679	SLC9A7	OMIM:301024
HP:0001417	X-linked inheritance	90161	HS6ST2	OMIM:301025
HP:0001417	X-linked inheritance	10916	MAGED2	OMIM:300971
HP:0001417	X-linked inheritance	1741	DLG3	OMIM:300850
HP:0001417	X-linked inheritance	4694	NDUFA1	OMIM:301020
HP:0001417	X-linked inheritance	7454	WAS	OMIM:300299
HP:0001417	X-linked inheritance	7454	WAS	OMIM:301000
HP:0001417	X-linked inheritance	7454	WAS	OMIM:313900
HP:0001417	X-linked inheritance	2316	FLNA	OMIM:305620
HP:0001417	X-linked inheritance	2316	FLNA	OMIM:300048
HP:0001417	X-linked inheritance	84061	MAGT1	OMIM:300853
HP:0001417	X-linked inheritance	84061	MAGT1	OMIM:301031
HP:0001417	X-linked inheritance	51132	RLIM	OMIM:300978
HP:0001417	X-linked inheritance	2334	AFF2	OMIM:309548
HP:0001417	X-linked inheritance	537	ATP6AP1	OMIM:300972
HP:0001417	X-linked inheritance	55906	ZC4H2	OMIM:314580
HP:0001417	X-linked inheritance	4128	MAOA	OMIM:300615
HP:0001417	X-linked inheritance	24140	FTSJ1	OMIM:309549
HP:0001417	X-linked inheritance	63035	BCORL1	OMIM:301029
HP:0001417	X-linked inheritance	8260	NAA10	OMIM:300855
HP:0001417	X-linked inheritance	23229	ARHGEF9	OMIM:300607
HP:0001417	X-linked inheritance	3054	HCFC1	OMIM:309541
HP:0001417	X-linked inheritance	91851	CHRDL1	OMIM:309300
HP:0001417	X-linked inheritance	116442	RAB39B	OMIM:311510
HP:0001417	X-linked inheritance	116442	RAB39B	OMIM:300271
HP:0001417	X-linked inheritance	2010	EMD	OMIM:310300
HP:0001417	X-linked inheritance	8471	IRS4	OMIM:301035
HP:0001417	X-linked inheritance	80311	KLHL15	OMIM:300982
HP:0001417	X-linked inheritance	5422	POLA1	OMIM:301030
HP:0001417	X-linked inheritance	5422	POLA1	OMIM:301220
HP:0001417	X-linked inheritance	7319	UBE2A	OMIM:300860
HP:0001417	X-linked inheritance	4478	MSN	OMIM:300988
HP:0001417	X-linked inheritance	7317	UBA1	OMIM:301830
HP:0001417	X-linked inheritance	9758	FRMPD4	OMIM:300983
HP:0001417	X-linked inheritance	79576	NKAP	OMIM:301039
HP:0001417	X-linked inheritance	389856	USP27X	OMIM:300984
HP:0001417	X-linked inheritance	412	STS	OMIM:308100
HP:0001417	X-linked inheritance	50814	NSDHL	OMIM:300831
HP:0001417	X-linked inheritance	139411	PTCHD1	OMIM:300830
HP:0001417	X-linked inheritance	57187	THOC2	OMIM:300957
HP:0001417	X-linked inheritance	8270	LAGE3	OMIM:301006
HP:0001417	X-linked inheritance	6247	RS1	OMIM:312700
HP:0001417	X-linked inheritance	4534	MTM1	OMIM:310400
HP:0001417	X-linked inheritance	5456	POU3F4	OMIM:304400
HP:0001417	X-linked inheritance	10804	GJB6	OMIM:304400
HP:0001417	X-linked inheritance	2706	GJB2	OMIM:304400
HP:0001417	X-linked inheritance	286410	ATP11C	OMIM:301015
HP:0001417	X-linked inheritance	10682	EBP	OMIM:300960
HP:0001417	X-linked inheritance	2157	F8	OMIM:306700
HP:0001417	X-linked inheritance	4841	NONO	OMIM:300967
HP:0001417	X-linked inheritance	79983	POF1B	OMIM:300604
HP:0001417	X-linked inheritance	114928	GPRASP2	OMIM:301018
HP:0001417	X-linked inheritance	28952	CCDC22	OMIM:300963
HP:0001417	X-linked inheritance	1654	DDX3X	OMIM:300958
HP:0001417	X-linked inheritance	23096	IQSEC2	OMIM:309530
HP:0001417	X-linked inheritance	6853	SYN1	OMIM:300491
HP:0001417	X-linked inheritance	84295	PHF6	OMIM:301900
HP:0001417	X-linked inheritance	10084	PQBP1	OMIM:309500
HP:0001417	X-linked inheritance	6748	SSR4	OMIM:300934
HP:0001417	X-linked inheritance	4935	GPR143	OMIM:300814
HP:0001417	X-linked inheritance	11043	MID2	OMIM:300928
HP:0001417	X-linked inheritance	60506	NYX	OMIM:310500
HP:0001417	X-linked inheritance	23133	PHF8	OMIM:300263
HP:0001417	X-linked inheritance	9130	FAM50A	OMIM:300261
HP:0001417	X-linked inheritance	11141	IL1RAPL1	OMIM:300143
HP:0001417	X-linked inheritance	1968	EIF2S3	OMIM:300148
HP:0001417	X-linked inheritance	90121	TSR2	OMIM:300946
HP:0001417	X-linked inheritance	8823	FGF16	OMIM:309630
HP:0001417	X-linked inheritance	5256	PHKA2	OMIM:306000
HP:0001417	X-linked inheritance	265	AMELX	OMIM:301200
HP:0001417	X-linked inheritance	64840	PORCN	OMIM:305600
HP:0001417	X-linked inheritance	1947	EFNB1	OMIM:304110
HP:0001417	X-linked inheritance	6792	CDKL5	OMIM:300672
HP:0001417	X-linked inheritance	1730	DIAPH2	OMIM:300511
HP:0001417	X-linked inheritance	340533	NEXMIF	OMIM:300912
HP:0001417	X-linked inheritance	1183	CLCN4	OMIM:300114
HP:0001417	X-linked inheritance	1349	COX7B	OMIM:309801
HP:0001417	X-linked inheritance	1349	COX7B	OMIM:300887
HP:0001417	X-linked inheritance	3052	HCCS	OMIM:309801
HP:0001417	X-linked inheritance	3028	HSD17B10	OMIM:300438
HP:0001417	X-linked inheritance	7737	RNF113A	OMIM:300953
HP:0001417	X-linked inheritance	92002	CCNQ	OMIM:300707
HP:0001417	X-linked inheritance	2539	G6PD	OMIM:300908
HP:0001417	X-linked inheritance	5165	PDK3	OMIM:300905
HP:0001417	X-linked inheritance	6736	SRY	OMIM:400045
HP:0001417	X-linked inheritance	5160	PDHA1	OMIM:312170
HP:0001417	X-linked inheritance	9338	TCEAL1	OMIM:301094
HP:0001417	X-linked inheritance	139285	AMER1	OMIM:300373
HP:0001417	X-linked inheritance	5251	PHEX	OMIM:307800
HP:0001417	X-linked inheritance	11152	WDR45	OMIM:300894
HP:0001417	X-linked inheritance	7355	SLC35A2	OMIM:300896
HP:0001417	X-linked inheritance	3920	LAMP2	OMIM:300257
HP:0001417	X-linked inheritance	29978	UBQLN2	OMIM:300857
HP:0001417	X-linked inheritance	2182	ACSL4	OMIM:300387
HP:0001417	X-linked inheritance	10943	MSL3	OMIM:301032
HP:0001417	X-linked inheritance	10013	HDAC6	OMIM:300863
HP:0001417	X-linked inheritance	2705	GJB1	OMIM:302800
HP:0001417	X-linked inheritance	7403	KDM6A	OMIM:300867
HP:0001417	X-linked inheritance	3188	HNRNPH2	OMIM:300986
HP:0001419	X-linked recessive inheritance	3476	IGBP1	OMIM:300472
HP:0001419	X-linked recessive inheritance	8243	SMC1A	OMIM:300590
HP:0001419	X-linked recessive inheritance	778	CACNA1F	OMIM:300476
HP:0001419	X-linked recessive inheritance	8450	CUL4B	OMIM:300354
HP:0001419	X-linked recessive inheritance	10134	BCAP31	OMIM:300475
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300232
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:310490
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300614
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300816
HP:0001419	X-linked recessive inheritance	6535	SLC6A8	OMIM:300352
HP:0001419	X-linked recessive inheritance	27316	RBMX	OMIM:300238
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:300911
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:300423
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:301045
HP:0001419	X-linked recessive inheritance	5009	OTC	OMIM:311250
HP:0001419	X-linked recessive inheritance	4693	NDP	OMIM:310600
HP:0001419	X-linked recessive inheritance	4693	NDP	OMIM:305390
HP:0001419	X-linked recessive inheritance	1736	DKC1	OMIM:305000
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:304150
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:300489
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:309400
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:308990
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:300009
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:300554
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:310468
HP:0001419	X-linked recessive inheritance	2158	F9	OMIM:306900
HP:0001419	X-linked recessive inheritance	2158	F9	OMIM:300807
HP:0001419	X-linked recessive inheritance	4983	OPHN1	OMIM:300486
HP:0001419	X-linked recessive inheritance	10479	SLC9A6	OMIM:300243
HP:0001419	X-linked recessive inheritance	4281	MID1	OMIM:300000
HP:0001419	X-linked recessive inheritance	24137	KIF4A	OMIM:300923
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:300367
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:314050
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:301083
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:300835
HP:0001419	X-linked recessive inheritance	6855	SYP	OMIM:300802
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:300918
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:308800
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:301014
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:308205
HP:0001419	X-linked recessive inheritance	8239	USP9X	OMIM:300919
HP:0001419	X-linked recessive inheritance	1288	COL4A6	OMIM:300914
HP:0001419	X-linked recessive inheritance	2273	FHL1	OMIM:300696
HP:0001419	X-linked recessive inheritance	2273	FHL1	OMIM:300280
HP:0001419	X-linked recessive inheritance	7102	TSPAN7	OMIM:300210
HP:0001419	X-linked recessive inheritance	1896	EDA	OMIM:305100
HP:0001419	X-linked recessive inheritance	2892	GRIA3	OMIM:300699
HP:0001419	X-linked recessive inheritance	6103	RPGR	OMIM:300455
HP:0001419	X-linked recessive inheritance	6103	RPGR	OMIM:300834
HP:0001419	X-linked recessive inheritance	22	ABCB7	OMIM:301310
HP:0001419	X-linked recessive inheritance	1678	TIMM8A	OMIM:304700
HP:0001419	X-linked recessive inheritance	215	ABCD1	OMIM:300100
HP:0001419	X-linked recessive inheritance	633	BGN	OMIM:300106
HP:0001419	X-linked recessive inheritance	6399	TRAPPC2	OMIM:313400
HP:0001419	X-linked recessive inheritance	8241	RBM10	OMIM:311900
HP:0001419	X-linked recessive inheritance	30011	SH3KBP1	OMIM:300310
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300673
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300055
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300260
HP:0001419	X-linked recessive inheritance	4952	OCRL	OMIM:300555
HP:0001419	X-linked recessive inheritance	4952	OCRL	OMIM:309000
HP:0001419	X-linked recessive inheritance	65109	UPF3B	OMIM:300676
HP:0001419	X-linked recessive inheritance	5956	OPN1LW	OMIM:303700
HP:0001419	X-linked recessive inheritance	5956	OPN1LW	OMIM:303900
HP:0001419	X-linked recessive inheritance	2652	OPN1MW	OMIM:303700
HP:0001419	X-linked recessive inheritance	2652	OPN1MW	OMIM:303800
HP:0001419	X-linked recessive inheritance	5255	PHKA1	OMIM:300559
HP:0001419	X-linked recessive inheritance	5063	PAK3	OMIM:300558
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:312300
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:300633
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:300068
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:313200
HP:0001419	X-linked recessive inheritance	54440	SASH3	OMIM:301082
HP:0001419	X-linked recessive inheritance	56159	TEX11	OMIM:309120
HP:0001419	X-linked recessive inheritance	492	ATP2B3	OMIM:302500
HP:0001419	X-linked recessive inheritance	3251	HPRT1	OMIM:300322
HP:0001419	X-linked recessive inheritance	3251	HPRT1	OMIM:300323
HP:0001419	X-linked recessive inheritance	190	NR0B1	OMIM:300200
HP:0001419	X-linked recessive inheritance	2187	FANCB	OMIM:314390
HP:0001419	X-linked recessive inheritance	2187	FANCB	OMIM:300514
HP:0001419	X-linked recessive inheritance	7547	ZIC3	OMIM:314390
HP:0001419	X-linked recessive inheritance	7547	ZIC3	OMIM:306955
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300209
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300424
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300804
HP:0001419	X-linked recessive inheritance	554	AVPR2	OMIM:304800
HP:0001419	X-linked recessive inheritance	554	AVPR2	OMIM:300539
HP:0001419	X-linked recessive inheritance	6901	TAFAZZIN	OMIM:302060
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:305450
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:300895
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:309520
HP:0001419	X-linked recessive inheritance	2258	FGF13	OMIM:301095
HP:0001419	X-linked recessive inheritance	2258	FGF13	OMIM:301058
HP:0001419	X-linked recessive inheritance	415	ARSL	OMIM:302950
HP:0001419	X-linked recessive inheritance	5354	PLP1	OMIM:312080
HP:0001419	X-linked recessive inheritance	5354	PLP1	OMIM:312920
HP:0001419	X-linked recessive inheritance	8242	KDM5C	OMIM:300534
HP:0001419	X-linked recessive inheritance	5230	PGK1	OMIM:300653
HP:0001419	X-linked recessive inheritance	2717	GLA	OMIM:301500
HP:0001419	X-linked recessive inheritance	3423	IDS	OMIM:309900
HP:0001419	X-linked recessive inheritance	254065	BRWD3	OMIM:300659
HP:0001419	X-linked recessive inheritance	546	ATRX	OMIM:309580
HP:0001419	X-linked recessive inheritance	6611	SMS	OMIM:309583
HP:0001419	X-linked recessive inheritance	81887	LAS1L	OMIM:309585
HP:0001419	X-linked recessive inheritance	9075	CLDN2	OMIM:301060
HP:0001419	X-linked recessive inheritance	2000	ELF4	OMIM:301074
HP:0001419	X-linked recessive inheritance	3730	ANOS1	OMIM:308700
HP:0001419	X-linked recessive inheritance	1536	CYBB	OMIM:306400
HP:0001419	X-linked recessive inheritance	1536	CYBB	OMIM:300645
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:304100
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:303350
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:307000
HP:0001419	X-linked recessive inheritance	23676	SMPX	OMIM:301075
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:300661
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:311070
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:301835
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:304500
HP:0001419	X-linked recessive inheritance	6872	TAF1	OMIM:314250
HP:0001419	X-linked recessive inheritance	6872	TAF1	OMIM:300966
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:300419
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:308350
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:309510
HP:0001419	X-linked recessive inheritance	2719	GPC3	OMIM:312870
HP:0001419	X-linked recessive inheritance	2239	GPC4	OMIM:312870
HP:0001419	X-linked recessive inheritance	2239	GPC4	OMIM:301026
HP:0001419	X-linked recessive inheritance	5277	PIGA	OMIM:301072
HP:0001419	X-linked recessive inheritance	5277	PIGA	OMIM:300868
HP:0001419	X-linked recessive inheritance	8905	AP1S2	OMIM:304340
HP:0001419	X-linked recessive inheritance	9949	AMMECR1	OMIM:300990
HP:0001419	X-linked recessive inheritance	139212	DNAAF6	OMIM:300991
HP:0001419	X-linked recessive inheritance	212	ALAS2	OMIM:300751
HP:0001419	X-linked recessive inheritance	55217	TMLHE	OMIM:300872
HP:0001419	X-linked recessive inheritance	2245	FGD1	OMIM:305400
HP:0001419	X-linked recessive inheritance	10735	STAG2	OMIM:301043
HP:0001419	X-linked recessive inheritance	695	BTK	OMIM:300755
HP:0001419	X-linked recessive inheritance	695	BTK	OMIM:307200
HP:0001419	X-linked recessive inheritance	6134	RPL10	OMIM:300998
HP:0001419	X-linked recessive inheritance	10046	MAMLD1	OMIM:300758
HP:0001419	X-linked recessive inheritance	8517	IKBKG	OMIM:300636
HP:0001419	X-linked recessive inheritance	8517	IKBKG	OMIM:300291
HP:0001419	X-linked recessive inheritance	5199	CFP	OMIM:312060
HP:0001419	X-linked recessive inheritance	331	XIAP	OMIM:300635
HP:0001419	X-linked recessive inheritance	331	XIAP	OMIM:308240
HP:0001419	X-linked recessive inheritance	8473	OGT	OMIM:300997
HP:0001419	X-linked recessive inheritance	1756	DMD	OMIM:310200
HP:0001419	X-linked recessive inheritance	1756	DMD	OMIM:300376
HP:0001419	X-linked recessive inheritance	203547	VMA21	OMIM:310440
HP:0001419	X-linked recessive inheritance	3561	IL2RG	OMIM:312863
HP:0001419	X-linked recessive inheritance	3561	IL2RG	OMIM:300400
HP:0001419	X-linked recessive inheritance	50943	FOXP3	OMIM:304790
HP:0001419	X-linked recessive inheritance	959	CD40LG	OMIM:308230
HP:0001419	X-linked recessive inheritance	55593	OTUD5	OMIM:301056
HP:0001419	X-linked recessive inheritance	286464	CFAP47	OMIM:301059
HP:0001419	X-linked recessive inheritance	84100	ARL6	OMIM:268000
HP:0001419	X-linked recessive inheritance	9227	LRAT	OMIM:268000
HP:0001419	X-linked recessive inheritance	5949	RBP3	OMIM:268000
HP:0001419	X-linked recessive inheritance	7401	CLRN1	OMIM:268000
HP:0001419	X-linked recessive inheritance	5148	PDE6G	OMIM:268000
HP:0001419	X-linked recessive inheritance	1259	CNGA1	OMIM:268000
HP:0001419	X-linked recessive inheritance	23746	AIPL1	OMIM:268000
HP:0001419	X-linked recessive inheritance	6094	ROM1	OMIM:268000
HP:0001419	X-linked recessive inheritance	1406	CRX	OMIM:268000
HP:0001419	X-linked recessive inheritance	157657	CFAP418	OMIM:268000
HP:0001419	X-linked recessive inheritance	1193	CLIC2	OMIM:300886
HP:0001419	X-linked recessive inheritance	6567	SLC16A2	OMIM:300523
HP:0001419	X-linked recessive inheritance	3547	IGSF1	OMIM:300888
HP:0001419	X-linked recessive inheritance	51284	TLR7	OMIM:301051
HP:0001419	X-linked recessive inheritance	4068	SH2D1A	OMIM:308240
HP:0001419	X-linked recessive inheritance	2710	GK	OMIM:307030
HP:0001419	X-linked recessive inheritance	84679	SLC9A7	OMIM:301024
HP:0001419	X-linked recessive inheritance	90161	HS6ST2	OMIM:301025
HP:0001419	X-linked recessive inheritance	10916	MAGED2	OMIM:300971
HP:0001419	X-linked recessive inheritance	1741	DLG3	OMIM:300850
HP:0001419	X-linked recessive inheritance	4694	NDUFA1	OMIM:301020
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:300299
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:301000
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:313900
HP:0001419	X-linked recessive inheritance	2316	FLNA	OMIM:305620
HP:0001419	X-linked recessive inheritance	2316	FLNA	OMIM:300048
HP:0001419	X-linked recessive inheritance	84061	MAGT1	OMIM:300853
HP:0001419	X-linked recessive inheritance	84061	MAGT1	OMIM:301031
HP:0001419	X-linked recessive inheritance	51132	RLIM	OMIM:300978
HP:0001419	X-linked recessive inheritance	2334	AFF2	OMIM:309548
HP:0001419	X-linked recessive inheritance	537	ATP6AP1	OMIM:300972
HP:0001419	X-linked recessive inheritance	55906	ZC4H2	OMIM:314580
HP:0001419	X-linked recessive inheritance	4128	MAOA	OMIM:300615
HP:0001419	X-linked recessive inheritance	24140	FTSJ1	OMIM:309549
HP:0001419	X-linked recessive inheritance	63035	BCORL1	OMIM:301029
HP:0001419	X-linked recessive inheritance	8260	NAA10	OMIM:300855
HP:0001419	X-linked recessive inheritance	23229	ARHGEF9	OMIM:300607
HP:0001419	X-linked recessive inheritance	3054	HCFC1	OMIM:309541
HP:0001419	X-linked recessive inheritance	91851	CHRDL1	OMIM:309300
HP:0001419	X-linked recessive inheritance	116442	RAB39B	OMIM:311510
HP:0001419	X-linked recessive inheritance	116442	RAB39B	OMIM:300271
HP:0001419	X-linked recessive inheritance	2010	EMD	OMIM:310300
HP:0001419	X-linked recessive inheritance	8471	IRS4	OMIM:301035
HP:0001419	X-linked recessive inheritance	80311	KLHL15	OMIM:300982
HP:0001419	X-linked recessive inheritance	5422	POLA1	OMIM:301030
HP:0001419	X-linked recessive inheritance	5422	POLA1	OMIM:301220
HP:0001419	X-linked recessive inheritance	7319	UBE2A	OMIM:300860
HP:0001419	X-linked recessive inheritance	4478	MSN	OMIM:300988
HP:0001419	X-linked recessive inheritance	7317	UBA1	OMIM:301830
HP:0001419	X-linked recessive inheritance	9758	FRMPD4	OMIM:300983
HP:0001419	X-linked recessive inheritance	79576	NKAP	OMIM:301039
HP:0001419	X-linked recessive inheritance	389856	USP27X	OMIM:300984
HP:0001419	X-linked recessive inheritance	412	STS	OMIM:308100
HP:0001419	X-linked recessive inheritance	50814	NSDHL	OMIM:300831
HP:0001419	X-linked recessive inheritance	139411	PTCHD1	OMIM:300830
HP:0001419	X-linked recessive inheritance	57187	THOC2	OMIM:300957
HP:0001419	X-linked recessive inheritance	8270	LAGE3	OMIM:301006
HP:0001419	X-linked recessive inheritance	6247	RS1	OMIM:312700
HP:0001419	X-linked recessive inheritance	4534	MTM1	OMIM:310400
HP:0001419	X-linked recessive inheritance	5456	POU3F4	OMIM:304400
HP:0001419	X-linked recessive inheritance	10804	GJB6	OMIM:304400
HP:0001419	X-linked recessive inheritance	2706	GJB2	OMIM:304400
HP:0001419	X-linked recessive inheritance	286410	ATP11C	OMIM:301015
HP:0001419	X-linked recessive inheritance	10682	EBP	OMIM:300960
HP:0001419	X-linked recessive inheritance	2157	F8	OMIM:306700
HP:0001419	X-linked recessive inheritance	4841	NONO	OMIM:300967
HP:0001419	X-linked recessive inheritance	79983	POF1B	OMIM:300604
HP:0001419	X-linked recessive inheritance	114928	GPRASP2	OMIM:301018
HP:0001419	X-linked recessive inheritance	28952	CCDC22	OMIM:300963
HP:0001419	X-linked recessive inheritance	1654	DDX3X	OMIM:300958
HP:0001419	X-linked recessive inheritance	23096	IQSEC2	OMIM:309530
HP:0001419	X-linked recessive inheritance	6853	SYN1	OMIM:300491
HP:0001419	X-linked recessive inheritance	84295	PHF6	OMIM:301900
HP:0001419	X-linked recessive inheritance	10084	PQBP1	OMIM:309500
HP:0001419	X-linked recessive inheritance	6748	SSR4	OMIM:300934
HP:0001419	X-linked recessive inheritance	4935	GPR143	OMIM:300814
HP:0001419	X-linked recessive inheritance	11043	MID2	OMIM:300928
HP:0001419	X-linked recessive inheritance	60506	NYX	OMIM:310500
HP:0001419	X-linked recessive inheritance	23133	PHF8	OMIM:300263
HP:0001419	X-linked recessive inheritance	9130	FAM50A	OMIM:300261
HP:0001419	X-linked recessive inheritance	11141	IL1RAPL1	OMIM:300143
HP:0001419	X-linked recessive inheritance	1968	EIF2S3	OMIM:300148
HP:0001419	X-linked recessive inheritance	90121	TSR2	OMIM:300946
HP:0001419	X-linked recessive inheritance	8823	FGF16	OMIM:309630
HP:0001419	X-linked recessive inheritance	5256	PHKA2	OMIM:306000
HP:0011636	Abnormal coronary artery origin	8216	LZTR1	OMIM:605275
HP:0011636	Abnormal coronary artery origin	55191	NADSYN1	OMIM:618845
HP:0011636	Abnormal coronary artery origin	100128908	CIROP	OMIM:619702
HP:0011636	Abnormal coronary artery origin	137814	NKX2-6	ORPHA:3384
HP:0011636	Abnormal coronary artery origin	23129	PLXND1	ORPHA:3384
HP:0011637	Anomalous origin of coronary artery from the pulmonary artery	55191	NADSYN1	OMIM:618845
HP:0011638	Anomalous origin of left coronary artery from the pulmonary artery	55191	NADSYN1	OMIM:618845
HP:0001421	Abnormality of the musculature of the hand	6138	RPL15	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6229	RPS24	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6125	RPL5	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6204	RPS10	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6224	RPS20	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6165	RPL35A	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	2623	GATA1	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6232	RPS27	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6231	RPS26	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	11224	RPL35	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6160	RPL31	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6218	RPS17	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6201	RPS7	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6155	RPL27	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6154	RPL26	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6210	RPS15A	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	90121	TSR2	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6141	RPL18	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6235	RPS29	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6234	RPS28	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	51816	ADA2	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6910	TBX5	OMIM:142900
HP:0001421	Abnormality of the musculature of the hand	11117	EMILIN1	OMIM:620080
HP:0001421	Abnormality of the musculature of the hand	5889	RAD51C	OMIM:613390
HP:0001421	Abnormality of the musculature of the hand	9775	EIF4A3	OMIM:268305
HP:0001421	Abnormality of the musculature of the hand	57167	SALL4	OMIM:147750
HP:0001421	Abnormality of the musculature of the hand	57167	SALL4	OMIM:607323
HP:0001421	Abnormality of the musculature of the hand	23291	FBXW11	OMIM:618914
HP:0001421	Abnormality of the musculature of the hand	2263	FGFR2	OMIM:149730
HP:0001421	Abnormality of the musculature of the hand	3209	HOXA13	OMIM:140000
HP:0001421	Abnormality of the musculature of the hand	121512	FGD4	OMIM:609311
HP:0001421	Abnormality of the musculature of the hand	6223	RPS19	OMIM:105650
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	OMIM:600794
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	ORPHA:139536
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	OMIM:601472
HP:0001421	Abnormality of the musculature of the hand	1311	COMP	OMIM:619161
HP:0001421	Abnormality of the musculature of the hand	91252	SLC39A13	ORPHA:157965
HP:0001421	Abnormality of the musculature of the hand	91252	SLC39A13	OMIM:612350
HP:0001421	Abnormality of the musculature of the hand	8985	PLOD3	OMIM:612394
HP:0001421	Abnormality of the musculature of the hand	8884	SLC5A6	OMIM:619903
HP:0001421	Abnormality of the musculature of the hand	4703	NEB	OMIM:256030
HP:0001421	Abnormality of the musculature of the hand	3710	ITPR3	OMIM:620111
HP:0001421	Abnormality of the musculature of the hand	3425	IDUA	OMIM:607015
HP:0001421	Abnormality of the musculature of the hand	80208	SPG11	OMIM:604360
HP:0001421	Abnormality of the musculature of the hand	8729	GBF1	OMIM:606483
HP:0001421	Abnormality of the musculature of the hand	2316	FLNA	ORPHA:1826
HP:0001421	Abnormality of the musculature of the hand	6885	MAP3K7	ORPHA:1826
HP:0001421	Abnormality of the musculature of the hand	55768	NGLY1	OMIM:615273
HP:0001421	Abnormality of the musculature of the hand	23321	TRIM2	OMIM:615490
HP:0001421	Abnormality of the musculature of the hand	182	JAG1	OMIM:619574
HP:0001421	Abnormality of the musculature of the hand	374969	SVBP	OMIM:618569
HP:0001421	Abnormality of the musculature of the hand	9990	SLC12A6	OMIM:620068
HP:0001421	Abnormality of the musculature of the hand	1678	TIMM8A	OMIM:304700
HP:0001421	Abnormality of the musculature of the hand	6261	RYR1	ORPHA:178145
HP:0001421	Abnormality of the musculature of the hand	547	KIF1A	OMIM:614213
HP:0001421	Abnormality of the musculature of the hand	57716	PRX	OMIM:614895
HP:0001421	Abnormality of the musculature of the hand	400916	CHCHD10	ORPHA:276435
HP:0001421	Abnormality of the musculature of the hand	4359	MPZ	ORPHA:3115
HP:0001421	Abnormality of the musculature of the hand	55958	KLHL9	ORPHA:399081
HP:0001421	Abnormality of the musculature of the hand	10280	SIGMAR1	OMIM:614373
HP:0001421	Abnormality of the musculature of the hand	81545	FBXO38	OMIM:615575
HP:0001421	Abnormality of the musculature of the hand	6786	STIM1	OMIM:160565
HP:0001421	Abnormality of the musculature of the hand	7273	TTN	ORPHA:609
HP:0001421	Abnormality of the musculature of the hand	8878	SQSTM1	ORPHA:603
HP:0001421	Abnormality of the musculature of the hand	7072	TIA1	ORPHA:603
HP:0001421	Abnormality of the musculature of the hand	11155	LDB3	ORPHA:98912
HP:0001421	Abnormality of the musculature of the hand	6329	SCN4A	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	4038	LRP4	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1305	COL13A1	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1140	CHRNB1	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1144	CHRND	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1145	CHRNE	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	4593	MUSK	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	5913	RAPSN	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	375790	AGRN	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	221264	AK9	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	285489	DOK7	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	10020	GNE	ORPHA:602
HP:0001421	Abnormality of the musculature of the hand	1134	CHRNA1	OMIM:601462
HP:0001421	Abnormality of the musculature of the hand	284058	KANSL1	ORPHA:363965
HP:0001421	Abnormality of the musculature of the hand	284058	KANSL1	ORPHA:363958
HP:0001421	Abnormality of the musculature of the hand	3094	HINT1	ORPHA:324442
HP:0001421	Abnormality of the musculature of the hand	57679	ALS2	OMIM:205100
HP:0001421	Abnormality of the musculature of the hand	7415	VCP	ORPHA:435387
HP:0001421	Abnormality of the musculature of the hand	59341	TRPV4	OMIM:606071
HP:0001421	Abnormality of the musculature of the hand	80199	FUZ	ORPHA:1136
HP:0001421	Abnormality of the musculature of the hand	58	ACTA1	OMIM:616852
HP:0001421	Abnormality of the musculature of the hand	10342	TFG	OMIM:615658
HP:0001421	Abnormality of the musculature of the hand	89874	SLC25A21	OMIM:618811
HP:0001421	Abnormality of the musculature of the hand	113278	SLC52A3	OMIM:211530
HP:0001421	Abnormality of the musculature of the hand	2395	FXN	ORPHA:95
HP:0001421	Abnormality of the musculature of the hand	29926	GMPPA	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	60684	TRAPPC11	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	8086	AAAS	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	6135	RPL11	OMIM:612562
HP:0001421	Abnormality of the musculature of the hand	5376	PMP22	OMIM:162500
HP:0001421	Abnormality of the musculature of the hand	5376	PMP22	ORPHA:90658
HP:0001421	Abnormality of the musculature of the hand	4141	MARS1	OMIM:616280
HP:0001421	Abnormality of the musculature of the hand	23299	BICD2	ORPHA:363454
HP:0001421	Abnormality of the musculature of the hand	65055	REEP1	ORPHA:101011
HP:0001421	Abnormality of the musculature of the hand	4625	MYH7	ORPHA:437572
HP:0001421	Abnormality of the musculature of the hand	8988	HSPB3	OMIM:613376
HP:0001421	Abnormality of the musculature of the hand	9782	MATR3	OMIM:606070
HP:0001421	Abnormality of the musculature of the hand	57104	PNPLA2	ORPHA:98908
HP:0001421	Abnormality of the musculature of the hand	859	CAV3	OMIM:614321
HP:0001421	Abnormality of the musculature of the hand	5165	PDK3	OMIM:300905
HP:0001421	Abnormality of the musculature of the hand	1639	DCTN1	OMIM:607641
HP:0001421	Abnormality of the musculature of the hand	81846	SBF2	ORPHA:99956
HP:0001421	Abnormality of the musculature of the hand	54332	GDAP1	ORPHA:101097
HP:0001421	Abnormality of the musculature of the hand	54332	GDAP1	ORPHA:99948
HP:0001421	Abnormality of the musculature of the hand	7084	TK2	ORPHA:254886
HP:0001421	Abnormality of the musculature of the hand	5428	POLG	ORPHA:254886
HP:0001421	Abnormality of the musculature of the hand	2705	GJB1	OMIM:302800
HP:0001421	Abnormality of the musculature of the hand	2992	GYG1	OMIM:616199
HP:0001421	Abnormality of the musculature of the hand	26580	BSCL2	ORPHA:100998
HP:0001421	Abnormality of the musculature of the hand	22880	MORC2	ORPHA:466768
HP:0001421	Abnormality of the musculature of the hand	3035	HARS1	ORPHA:488333
HP:0001421	Abnormality of the musculature of the hand	8292	COLQ	ORPHA:98915
HP:0001421	Abnormality of the musculature of the hand	3913	LAMB2	ORPHA:98915
HP:0001421	Abnormality of the musculature of the hand	4000	LMNA	ORPHA:98856
HP:0001421	Abnormality of the musculature of the hand	4747	NEFL	ORPHA:101085
HP:0001421	Abnormality of the musculature of the hand	9927	MFN2	ORPHA:99947
HP:0001421	Abnormality of the musculature of the hand	8565	YARS1	OMIM:608323
HP:0001421	Abnormality of the musculature of the hand	2318	FLNC	ORPHA:63273
HP:0001421	Abnormality of the musculature of the hand	8291	DYSF	ORPHA:178400
HP:0001421	Abnormality of the musculature of the hand	57863	CADM3	OMIM:619519
HP:0001518	Small for gestational age	10128	LRPPRC	OMIM:220111
HP:0001518	Small for gestational age	7528	YY1	ORPHA:506358
HP:0001518	Small for gestational age	3376	IARS1	OMIM:617093
HP:0001518	Small for gestational age	81555	YIPF5	OMIM:619278
HP:0001518	Small for gestational age	10617	STAMBP	OMIM:614261
HP:0001518	Small for gestational age	26235	FBXL4	OMIM:615471
HP:0001518	Small for gestational age	23019	CNOT1	OMIM:618500
HP:0001518	Small for gestational age	23019	CNOT1	ORPHA:556955
HP:0001518	Small for gestational age	25821	MTO1	OMIM:614702
HP:0001518	Small for gestational age	7068	THRB	OMIM:274300
HP:0001518	Small for gestational age	84942	WDR73	OMIM:251300
HP:0001518	Small for gestational age	3291	HSD11B2	OMIM:218030
HP:0001518	Small for gestational age	8496	PPFIBP1	OMIM:620024
HP:0001518	Small for gestational age	57176	VARS2	OMIM:615917
HP:0001518	Small for gestational age	10084	PQBP1	ORPHA:93950
HP:0001518	Small for gestational age	9401	RECQL4	OMIM:268400
HP:0001518	Small for gestational age	9401	RECQL4	ORPHA:221016
HP:0001518	Small for gestational age	4487	MSX1	ORPHA:199302
HP:0001518	Small for gestational age	5818	NECTIN1	ORPHA:199302
HP:0001518	Small for gestational age	8626	TP63	ORPHA:199302
HP:0001518	Small for gestational age	3664	IRF6	ORPHA:199302
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:231140
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:231144
HP:0001518	Small for gestational age	3481	IGF2	OMIM:616489
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:397590
HP:0001518	Small for gestational age	3481	IGF2	OMIM:180860
HP:0001518	Small for gestational age	283120	H19	ORPHA:231140
HP:0001518	Small for gestational age	283120	H19	ORPHA:231144
HP:0001518	Small for gestational age	197131	UBR1	OMIM:243800
HP:0001518	Small for gestational age	5932	RBBP8	OMIM:606744
HP:0001518	Small for gestational age	2175	FANCA	OMIM:227650
HP:0001518	Small for gestational age	1785	DNM2	OMIM:615368
HP:0001518	Small for gestational age	1841	DTYMK	OMIM:619847
HP:0001518	Small for gestational age	55788	LMBRD1	OMIM:277380
HP:0001518	Small for gestational age	318	NUDT2	OMIM:619844
HP:0001518	Small for gestational age	10847	SRCAP	ORPHA:2044
HP:0001518	Small for gestational age	10908	PNPLA6	OMIM:275400
HP:0001518	Small for gestational age	3508	IGHMBP2	OMIM:604320
HP:0001518	Small for gestational age	5979	RET	ORPHA:99803
HP:0001518	Small for gestational age	429	ASCL1	ORPHA:99803
HP:0001518	Small for gestational age	8929	PHOX2B	ORPHA:99803
HP:0001518	Small for gestational age	55768	NGLY1	ORPHA:404454
HP:0001518	Small for gestational age	4868	NPHS1	OMIM:256300
HP:0001518	Small for gestational age	284058	KANSL1	ORPHA:363958
HP:0001518	Small for gestational age	284058	KANSL1	ORPHA:363965
HP:0001518	Small for gestational age	284058	KANSL1	OMIM:610443
HP:0001518	Small for gestational age	55870	ASH1L	OMIM:617796
HP:0001518	Small for gestational age	116228	COX20	OMIM:619054
HP:0001518	Small for gestational age	100131801	PET100	OMIM:619055
HP:0001518	Small for gestational age	6884	TAF13	OMIM:617432
HP:0001518	Small for gestational age	55037	PTCD3	OMIM:619057
HP:0001518	Small for gestational age	1272	CNTN1	OMIM:612540
HP:0001518	Small for gestational age	816	CAMK2B	OMIM:617799
HP:0001518	Small for gestational age	6499	SKIC2	OMIM:614602
HP:0001518	Small for gestational age	6499	SKIC2	ORPHA:84064
HP:0001518	Small for gestational age	90993	CREB3L1	OMIM:616229
HP:0001518	Small for gestational age	256297	PTF1A	OMIM:615935
HP:0001518	Small for gestational age	54675	CRLS1	OMIM:620167
HP:0001518	Small for gestational age	2645	GCK	OMIM:606176
HP:0001518	Small for gestational age	157680	VPS13B	OMIM:216550
HP:0001518	Small for gestational age	79087	ALG12	OMIM:607143
HP:0001518	Small for gestational age	857	CAV1	OMIM:606721
HP:0001518	Small for gestational age	54968	TMEM70	OMIM:614052
HP:0001518	Small for gestational age	26053	AUTS2	ORPHA:352490
HP:0001518	Small for gestational age	26053	AUTS2	OMIM:615834
HP:0001518	Small for gestational age	7386	UQCRFS1	OMIM:618775
HP:0001518	Small for gestational age	833	CARS1	OMIM:618891
HP:0001518	Small for gestational age	2903	GRIN2A	ORPHA:289266
HP:0001518	Small for gestational age	2903	GRIN2A	OMIM:245570
HP:0001518	Small for gestational age	8550	MAPKAPK5	OMIM:619869
HP:0001518	Small for gestational age	60	ACTB	OMIM:607371
HP:0001518	Small for gestational age	55012	PPP2R3C	OMIM:618419
HP:0001518	Small for gestational age	51021	MRPS16	OMIM:610498
HP:0001518	Small for gestational age	25942	SIN3A	OMIM:613406
HP:0001518	Small for gestational age	25942	SIN3A	ORPHA:94065
HP:0001518	Small for gestational age	53834	FGFRL1	OMIM:194190
HP:0001518	Small for gestational age	1487	CTBP1	OMIM:194190
HP:0001518	Small for gestational age	3954	LETM1	OMIM:194190
HP:0001518	Small for gestational age	7468	NSD2	OMIM:194190
HP:0001518	Small for gestational age	10815	CPLX1	OMIM:194190
HP:0001518	Small for gestational age	10716	TBR1	ORPHA:1617
HP:0001518	Small for gestational age	2074	ERCC6	OMIM:214150
HP:0001518	Small for gestational age	2074	ERCC6	OMIM:133540
HP:0001518	Small for gestational age	7809	BSND	ORPHA:89938
HP:0001518	Small for gestational age	1188	CLCNKB	ORPHA:89938
HP:0001518	Small for gestational age	1187	CLCNKA	ORPHA:89938
HP:0001518	Small for gestational age	5447	POR	OMIM:201750
HP:0001518	Small for gestational age	55621	TRMT1	OMIM:618302
HP:0001518	Small for gestational age	4593	MUSK	OMIM:208150
HP:0001518	Small for gestational age	5828	PEX2	OMIM:614866
HP:0001518	Small for gestational age	2627	GATA6	ORPHA:2255
HP:0001518	Small for gestational age	2321	FLT1	ORPHA:275555
HP:0001518	Small for gestational age	219736	STOX1	ORPHA:275555
HP:0001518	Small for gestational age	10699	CORIN	ORPHA:275555
HP:0001518	Small for gestational age	79753	SNIP1	OMIM:614501
HP:0001518	Small for gestational age	2073	ERCC5	OMIM:278780
HP:0001518	Small for gestational age	10056	FARSB	OMIM:613658
HP:0001518	Small for gestational age	23345	SYNE1	ORPHA:319332
HP:0001518	Small for gestational age	23345	SYNE1	OMIM:618484
HP:0001518	Small for gestational age	11128	POLR3A	OMIM:264090
HP:0001518	Small for gestational age	1859	DYRK1A	ORPHA:464311
HP:0001518	Small for gestational age	1859	DYRK1A	ORPHA:268261
HP:0001518	Small for gestational age	1859	DYRK1A	OMIM:614104
HP:0001518	Small for gestational age	79759	ZNF668	OMIM:620194
HP:0001518	Small for gestational age	4089	SMAD4	OMIM:139210
HP:0001518	Small for gestational age	7385	UQCRC2	OMIM:615160
HP:0001518	Small for gestational age	5205	ATP8B1	ORPHA:69665
HP:0001518	Small for gestational age	8647	ABCB11	ORPHA:69665
HP:0001518	Small for gestational age	5244	ABCB4	ORPHA:69665
HP:0001518	Small for gestational age	9971	NR1H4	ORPHA:69665
HP:0001518	Small for gestational age	50485	SMARCAL1	ORPHA:1830
HP:0001518	Small for gestational age	50485	SMARCAL1	OMIM:242900
HP:0001518	Small for gestational age	1028	CDKN1C	ORPHA:397590
HP:0001518	Small for gestational age	5324	PLAG1	ORPHA:397590
HP:0001518	Small for gestational age	5324	PLAG1	OMIM:618907
HP:0001518	Small for gestational age	8091	HMGA2	ORPHA:397590
HP:0001518	Small for gestational age	8091	HMGA2	OMIM:618908
HP:0001518	Small for gestational age	641	BLM	OMIM:210900
HP:0001518	Small for gestational age	641	BLM	ORPHA:125
HP:0001518	Small for gestational age	84919	PPP1R15B	OMIM:616817
HP:0001518	Small for gestational age	84919	PPP1R15B	ORPHA:391408
HP:0001518	Small for gestational age	2683	B4GALT1	ORPHA:79332
HP:0001518	Small for gestational age	91949	COG7	ORPHA:79333
HP:0001518	Small for gestational age	55343	SLC35C1	ORPHA:99843
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:98754
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:177904
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:177901
HP:0001518	Small for gestational age	4692	NDN	ORPHA:98754
HP:0001518	Small for gestational age	4692	NDN	ORPHA:177904
HP:0001518	Small for gestational age	4692	NDN	ORPHA:177901
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:98754
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:177904
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:177901
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:98754
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:177904
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:177901
HP:0001518	Small for gestational age	5295	PIK3R1	OMIM:269880
HP:0001518	Small for gestational age	9652	SKIC3	OMIM:222470
HP:0001518	Small for gestational age	9652	SKIC3	ORPHA:84064
HP:0001518	Small for gestational age	5286	PIK3C2A	OMIM:618440
HP:0001518	Small for gestational age	8218	CLTCL1	ORPHA:453510
HP:0001518	Small for gestational age	2961	GTF2E2	OMIM:616943
HP:0001518	Small for gestational age	63901	FAM111A	OMIM:127000
HP:0001518	Small for gestational age	701	BUB1B	OMIM:257300
HP:0001518	Small for gestational age	79053	ALG8	ORPHA:79325
HP:0001518	Small for gestational age	9896	FIG4	OMIM:216340
HP:0001518	Small for gestational age	6567	SLC16A2	ORPHA:59
HP:0001518	Small for gestational age	6135	RPL11	ORPHA:124
HP:0001518	Small for gestational age	6138	RPL15	ORPHA:124
HP:0001518	Small for gestational age	6229	RPS24	ORPHA:124
HP:0001518	Small for gestational age	6125	RPL5	ORPHA:124
HP:0001518	Small for gestational age	6204	RPS10	ORPHA:124
HP:0001518	Small for gestational age	6224	RPS20	ORPHA:124
HP:0001518	Small for gestational age	6165	RPL35A	ORPHA:124
HP:0001518	Small for gestational age	2623	GATA1	ORPHA:124
HP:0001518	Small for gestational age	6223	RPS19	ORPHA:124
HP:0001518	Small for gestational age	6232	RPS27	ORPHA:124
HP:0001518	Small for gestational age	6231	RPS26	ORPHA:124
HP:0001518	Small for gestational age	11224	RPL35	ORPHA:124
HP:0001518	Small for gestational age	6160	RPL31	ORPHA:124
HP:0001518	Small for gestational age	6218	RPS17	ORPHA:124
HP:0001518	Small for gestational age	6201	RPS7	ORPHA:124
HP:0001518	Small for gestational age	6155	RPL27	ORPHA:124
HP:0001518	Small for gestational age	6154	RPL26	ORPHA:124
HP:0001518	Small for gestational age	6210	RPS15A	ORPHA:124
HP:0001518	Small for gestational age	90121	TSR2	ORPHA:124
HP:0001518	Small for gestational age	6141	RPL18	ORPHA:124
HP:0001518	Small for gestational age	6235	RPS29	ORPHA:124
HP:0001518	Small for gestational age	6234	RPS28	ORPHA:124
HP:0001518	Small for gestational age	51816	ADA2	ORPHA:124
HP:0001518	Small for gestational age	5631	PRPS1	OMIM:300661
HP:0001518	Small for gestational age	56160	NSMCE3	OMIM:617241
HP:0001518	Small for gestational age	6927	HNF1A	ORPHA:324575
HP:0001518	Small for gestational age	51025	PAM16	OMIM:613320
HP:0001518	Small for gestational age	51053	GMNN	OMIM:616835
HP:0001518	Small for gestational age	6888	TALDO1	OMIM:606003
HP:0001518	Small for gestational age	10075	HUWE1	OMIM:309590
HP:0001518	Small for gestational age	3479	IGF1	ORPHA:73272
HP:0001518	Small for gestational age	4693	NDP	ORPHA:90050
HP:0001518	Small for gestational age	4041	LRP5	ORPHA:90050
HP:0001518	Small for gestational age	8322	FZD4	ORPHA:90050
HP:0001518	Small for gestational age	5076	PAX2	ORPHA:97362
HP:0001518	Small for gestational age	5087	PBX1	ORPHA:97362
HP:0001518	Small for gestational age	388015	RTL1	ORPHA:254534
HP:0001518	Small for gestational age	388015	RTL1	ORPHA:96184
HP:0001518	Small for gestational age	8788	DLK1	ORPHA:254534
HP:0001518	Small for gestational age	8788	DLK1	ORPHA:96184
HP:0001518	Small for gestational age	55384	MEG3	ORPHA:254534
HP:0001518	Small for gestational age	55384	MEG3	ORPHA:96184
HP:0001518	Small for gestational age	1499	CTNNB1	OMIM:615075
HP:0001518	Small for gestational age	10785	WDR4	OMIM:618346
HP:0001518	Small for gestational age	579	NKX3-2	OMIM:613330
HP:0001518	Small for gestational age	4072	EPCAM	OMIM:613217
HP:0001518	Small for gestational age	23363	OBSL1	OMIM:612921
HP:0001518	Small for gestational age	2200	FBN1	ORPHA:284979
HP:0001518	Small for gestational age	7253	TSHR	ORPHA:424
HP:0001518	Small for gestational age	7253	TSHR	OMIM:609152
HP:0001518	Small for gestational age	3981	LIG4	OMIM:606593
HP:0001518	Small for gestational age	55593	OTUD5	OMIM:301056
HP:0001518	Small for gestational age	6299	SALL1	OMIM:107480
HP:0001518	Small for gestational age	23395	LARS2	OMIM:617021
HP:0001518	Small for gestational age	100151683	RNU4ATAC	OMIM:226960
HP:0001518	Small for gestational age	1062	CENPE	OMIM:616051
HP:0001518	Small for gestational age	51119	SBDS	OMIM:260400
HP:0001518	Small for gestational age	134218	DNAJC21	OMIM:260400
HP:0001518	Small for gestational age	6729	SRP54	OMIM:260400
HP:0001518	Small for gestational age	5160	PDHA1	OMIM:312170
HP:0001518	Small for gestational age	5160	PDHA1	ORPHA:79243
HP:0001518	Small for gestational age	10229	COQ7	OMIM:616733
HP:0001518	Small for gestational age	55784	MCTP2	ORPHA:1596
HP:0001518	Small for gestational age	55152	DALRD3	OMIM:618910
HP:0001518	Small for gestational age	2068	ERCC2	OMIM:610756
HP:0001518	Small for gestational age	2068	ERCC2	OMIM:601675
HP:0001518	Small for gestational age	3767	KCNJ11	ORPHA:99886
HP:0001518	Small for gestational age	346171	ZFP57	ORPHA:99886
HP:0001518	Small for gestational age	57061	HYMAI	ORPHA:99886
HP:0001518	Small for gestational age	6833	ABCC8	ORPHA:99886
HP:0001518	Small for gestational age	6833	ABCC8	OMIM:618857
HP:0001518	Small for gestational age	5325	PLAGL1	ORPHA:99886
HP:0001518	Small for gestational age	2710	GK	OMIM:307030
HP:0001518	Small for gestational age	4621	MYH3	OMIM:193700
HP:0001518	Small for gestational age	63925	ZNF335	OMIM:615095
HP:0001518	Small for gestational age	4998	ORC1	OMIM:224690
HP:0001518	Small for gestational age	50619	DEF6	OMIM:619573
HP:0001518	Small for gestational age	23511	NUP188	OMIM:618804
HP:0001518	Small for gestational age	201163	FLCN	OMIM:610883
HP:0001518	Small for gestational age	1277	COL1A1	OMIM:166210
HP:0001518	Small for gestational age	1278	COL1A2	OMIM:166210
HP:0001518	Small for gestational age	83987	CCDC8	OMIM:614205
HP:0001518	Small for gestational age	9820	CUL7	OMIM:273750
HP:0001518	Small for gestational age	9361	LONP1	ORPHA:79243
HP:0001518	Small for gestational age	22827	PUF60	ORPHA:508488
HP:0001518	Small for gestational age	22827	PUF60	OMIM:615583
HP:0001518	Small for gestational age	6557	SLC12A1	OMIM:601678
HP:0001518	Small for gestational age	26276	VPS33B	OMIM:208085
HP:0001518	Small for gestational age	2178	FANCE	OMIM:600901
HP:0001518	Small for gestational age	4905	NSF	OMIM:619340
HP:0001518	Small for gestational age	3758	KCNJ1	OMIM:241200
HP:0001518	Small for gestational age	4714	NDUFB8	OMIM:618252
HP:0001518	Small for gestational age	4700	NDUFA6	OMIM:618253
HP:0001518	Small for gestational age	10046	MAMLD1	ORPHA:95706
HP:0001518	Small for gestational age	367	AR	ORPHA:95706
HP:0001518	Small for gestational age	5573	PRKAR1A	OMIM:101800
HP:0001518	Small for gestational age	9419	CRIPT	OMIM:615789
HP:0001518	Small for gestational age	79718	TBL1XR1	ORPHA:487825
HP:0001518	Small for gestational age	2584	GALK1	ORPHA:79237
HP:0001518	Small for gestational age	3835	KIF22	ORPHA:93360
HP:0001518	Small for gestational age	3643	INSR	OMIM:262190
HP:0001518	Small for gestational age	10664	CTCF	ORPHA:363611
HP:0001518	Small for gestational age	57187	THOC2	OMIM:300957
HP:0001518	Small for gestational age	1387	CREBBP	OMIM:180849
HP:0001518	Small for gestational age	2033	EP300	OMIM:180849
HP:0001518	Small for gestational age	92002	CCNQ	OMIM:300707
HP:0001518	Small for gestational age	29957	SLC25A24	OMIM:612289
HP:0001518	Small for gestational age	4796	TONSL	ORPHA:93357
HP:0001518	Small for gestational age	1528	CYB5A	ORPHA:621
HP:0001518	Small for gestational age	1727	CYB5R3	ORPHA:621
HP:0001518	Small for gestational age	6697	SPR	ORPHA:70594
HP:0001518	Small for gestational age	2887	GRB10	ORPHA:96182
HP:0001518	Small for gestational age	8720	MBTPS1	OMIM:618392
HP:0001518	Small for gestational age	213	ALB	ORPHA:86816
HP:0001518	Small for gestational age	1836	SLC26A2	OMIM:222600
HP:0001518	Small for gestational age	60558	GUF1	OMIM:617065
HP:0001518	Small for gestational age	374879	ZNF699	OMIM:619488
HP:0001518	Small for gestational age	9918	NCAPD2	OMIM:617983
HP:0001518	Small for gestational age	57477	SHROOM4	ORPHA:85288
HP:0001518	Small for gestational age	6197	RPS6KA3	OMIM:300844
HP:0001518	Small for gestational age	10293	TRAIP	OMIM:616777
HP:0001518	Small for gestational age	9702	CEP57	OMIM:614114
HP:0001518	Small for gestational age	202018	TAPT1	OMIM:616897
HP:0001518	Small for gestational age	23397	NCAPH	OMIM:617985
HP:0001518	Small for gestational age	23310	NCAPD3	OMIM:617984
HP:0001518	Small for gestational age	93587	TRMT10A	ORPHA:391408
HP:0001518	Small for gestational age	3030	HADHA	OMIM:609015
HP:0001518	Small for gestational age	10436	EMG1	OMIM:211180
HP:0001518	Small for gestational age	2177	FANCD2	OMIM:227646
HP:0001518	Small for gestational age	5805	PTS	OMIM:261640
HP:0001518	Small for gestational age	54888	NSUN2	OMIM:611091
HP:0001518	Small for gestational age	2176	FANCC	OMIM:227645
HP:0001518	Small for gestational age	10274	STAG1	OMIM:617635
HP:0001518	Small for gestational age	37	ACADVL	ORPHA:26793
HP:0001518	Small for gestational age	3735	KARS1	OMIM:619147
HP:0001518	Small for gestational age	29928	TIMM22	OMIM:618851
HP:0001518	Small for gestational age	1968	EIF2S3	OMIM:300148
HP:0001518	Small for gestational age	8803	SUCLA2	OMIM:612073
HP:0001518	Small for gestational age	146059	CDAN1	OMIM:224120
HP:0001518	Small for gestational age	10736	SIX2	ORPHA:488437
HP:0001518	Small for gestational age	3630	INS	OMIM:618858
HP:0001518	Small for gestational age	4713	NDUFB7	OMIM:620135
HP:0001518	Small for gestational age	25886	POC1A	OMIM:614813
HP:0001518	Small for gestational age	64682	ANAPC1	ORPHA:221008
HP:0001423	X-linked dominant inheritance	265	AMELX	OMIM:301200
HP:0001423	X-linked dominant inheritance	8243	SMC1A	OMIM:300590
HP:0001423	X-linked dominant inheritance	8243	SMC1A	OMIM:301044
HP:0001423	X-linked dominant inheritance	64840	PORCN	OMIM:305600
HP:0001423	X-linked dominant inheritance	55906	ZC4H2	OMIM:301041
HP:0001423	X-linked dominant inheritance	1947	EFNB1	OMIM:304110
HP:0001423	X-linked dominant inheritance	6792	CDKL5	OMIM:300672
HP:0001423	X-linked dominant inheritance	1730	DIAPH2	OMIM:300511
HP:0001423	X-linked dominant inheritance	340533	NEXMIF	OMIM:300912
HP:0001423	X-linked dominant inheritance	1183	CLCN4	OMIM:300114
HP:0001423	X-linked dominant inheritance	212	ALAS2	OMIM:300752
HP:0001423	X-linked dominant inheritance	1349	COX7B	OMIM:309801
HP:0001423	X-linked dominant inheritance	1349	COX7B	OMIM:300887
HP:0001423	X-linked dominant inheritance	3052	HCCS	OMIM:309801
HP:0001423	X-linked dominant inheritance	54539	NDUFB11	OMIM:309801
HP:0001423	X-linked dominant inheritance	54539	NDUFB11	OMIM:300952
HP:0001423	X-linked dominant inheritance	3028	HSD17B10	OMIM:300438
HP:0001423	X-linked dominant inheritance	7737	RNF113A	OMIM:300953
HP:0001423	X-linked dominant inheritance	92002	CCNQ	OMIM:300707
HP:0001423	X-linked dominant inheritance	8573	CASK	OMIM:300908
HP:0001423	X-linked dominant inheritance	8573	CASK	OMIM:300749
HP:0001423	X-linked dominant inheritance	2539	G6PD	OMIM:300908
HP:0001423	X-linked dominant inheritance	5165	PDK3	OMIM:300905
HP:0001423	X-linked dominant inheritance	546	ATRX	OMIM:301040
HP:0001423	X-linked dominant inheritance	6736	SRY	OMIM:400045
HP:0001423	X-linked dominant inheritance	51284	TLR7	OMIM:301080
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:300244
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:300049
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:304120
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:309350
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:311300
HP:0001423	X-linked dominant inheritance	55869	HDAC8	OMIM:300882
HP:0001423	X-linked dominant inheritance	54880	BCOR	OMIM:300166
HP:0001423	X-linked dominant inheritance	8239	USP9X	OMIM:300968
HP:0001423	X-linked dominant inheritance	5160	PDHA1	OMIM:312170
HP:0001423	X-linked dominant inheritance	6197	RPS6KA3	OMIM:300844
HP:0001423	X-linked dominant inheritance	6197	RPS6KA3	OMIM:303600
HP:0001423	X-linked dominant inheritance	2273	FHL1	OMIM:300717
HP:0001423	X-linked dominant inheritance	2273	FHL1	OMIM:300695
HP:0001423	X-linked dominant inheritance	1896	EDA	OMIM:313500
HP:0001423	X-linked dominant inheritance	8481	OFD1	OMIM:311200
HP:0001423	X-linked dominant inheritance	1654	DDX3X	OMIM:300958
HP:0001423	X-linked dominant inheritance	23096	IQSEC2	OMIM:309530
HP:0001423	X-linked dominant inheritance	1287	COL4A5	OMIM:301050
HP:0001423	X-linked dominant inheritance	9338	TCEAL1	OMIM:301094
HP:0001423	X-linked dominant inheritance	139285	AMER1	OMIM:300373
HP:0001423	X-linked dominant inheritance	9968	MED12	OMIM:301068
HP:0001423	X-linked dominant inheritance	5251	PHEX	OMIM:307800
HP:0001423	X-linked dominant inheritance	6853	SYN1	OMIM:300491
HP:0001423	X-linked dominant inheritance	4810	NHS	OMIM:302350
HP:0001423	X-linked dominant inheritance	11152	WDR45	OMIM:300894
HP:0001423	X-linked dominant inheritance	7355	SLC35A2	OMIM:300896
HP:0001423	X-linked dominant inheritance	3920	LAMP2	OMIM:300257
HP:0001423	X-linked dominant inheritance	29978	UBQLN2	OMIM:300857
HP:0001423	X-linked dominant inheritance	8260	NAA10	OMIM:300855
HP:0001423	X-linked dominant inheritance	50814	NSDHL	OMIM:308050
HP:0001423	X-linked dominant inheritance	2664	GDI1	OMIM:300849
HP:0001423	X-linked dominant inheritance	10682	EBP	OMIM:302960
HP:0001423	X-linked dominant inheritance	2182	ACSL4	OMIM:300387
HP:0001423	X-linked dominant inheritance	10943	MSL3	OMIM:301032
HP:0001423	X-linked dominant inheritance	23676	SMPX	OMIM:300066
HP:0001423	X-linked dominant inheritance	2332	FMR1	OMIM:300623
HP:0001423	X-linked dominant inheritance	2332	FMR1	OMIM:300624
HP:0001423	X-linked dominant inheritance	10013	HDAC6	OMIM:300863
HP:0001423	X-linked dominant inheritance	2705	GJB1	OMIM:302800
HP:0001423	X-linked dominant inheritance	7403	KDM6A	OMIM:300867
HP:0001423	X-linked dominant inheritance	3188	HNRNPH2	OMIM:300986
HP:0001423	X-linked dominant inheritance	83550	GPR101	OMIM:300942
HP:0001423	X-linked dominant inheritance	4204	MECP2	OMIM:312750
HP:0001423	X-linked dominant inheritance	8517	IKBKG	OMIM:308300
HP:0001423	X-linked dominant inheritance	2157	F8	OMIM:301071
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:607602
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:609165
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:146600
HP:0000005	Mode of inheritance	55240	STEAP3	OMIM:615234
HP:0000005	Mode of inheritance	3910	LAMA4	OMIM:615235
HP:0000005	Mode of inheritance	1421	CRYGD	OMIM:115700
HP:0000005	Mode of inheritance	283489	CHAMP1	OMIM:616579
HP:0000005	Mode of inheritance	4790	NFKB1	OMIM:616576
HP:0000005	Mode of inheritance	54795	TRPM4	OMIM:604559
HP:0000005	Mode of inheritance	54795	TRPM4	OMIM:618531
HP:0000005	Mode of inheritance	3190	HNRNPK	OMIM:616580
HP:0000005	Mode of inheritance	653509	SFTPA1	OMIM:619611
HP:0000005	Mode of inheritance	657	BMPR1A	OMIM:174900
HP:0000005	Mode of inheritance	657	BMPR1A	OMIM:610069
HP:0000005	Mode of inheritance	54567	DLL4	OMIM:616589
HP:0000005	Mode of inheritance	55366	LGR4	OMIM:619613
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:603218
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:600072
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:123400
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:606688
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:137440
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:616592
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:615007
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:228550
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:213600
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:601812
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:131440
HP:0000005	Mode of inheritance	10347	ABCA7	OMIM:608907
HP:0000005	Mode of inheritance	4284	MIP	OMIM:615274
HP:0000005	Mode of inheritance	79719	AAGAB	OMIM:148600
HP:0000005	Mode of inheritance	1311	COMP	OMIM:177170
HP:0000005	Mode of inheritance	1311	COMP	OMIM:132400
HP:0000005	Mode of inheritance	1311	COMP	OMIM:619161
HP:0000005	Mode of inheritance	5605	MAP2K2	OMIM:615280
HP:0000005	Mode of inheritance	6141	RPL18	OMIM:618310
HP:0000005	Mode of inheritance	11224	RPL35	OMIM:618312
HP:0000005	Mode of inheritance	3800	KIF5C	OMIM:615282
HP:0000005	Mode of inheritance	6210	RPS15A	OMIM:618313
HP:0000005	Mode of inheritance	476	ATP1A1	OMIM:618314
HP:0000005	Mode of inheritance	476	ATP1A1	OMIM:618036
HP:0000005	Mode of inheritance	11155	LDB3	OMIM:601493
HP:0000005	Mode of inheritance	11155	LDB3	OMIM:609452
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:601494
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:115195
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:612422
HP:0000005	Mode of inheritance	57609	DIP2B	OMIM:136630
HP:0000005	Mode of inheritance	6654	SOS1	OMIM:135300
HP:0000005	Mode of inheritance	6654	SOS1	OMIM:610733
HP:0000005	Mode of inheritance	23299	BICD2	OMIM:615290
HP:0000005	Mode of inheritance	23299	BICD2	OMIM:618291
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:615293
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:125310
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:130720
HP:0000005	Mode of inheritance	859	CAV3	OMIM:123320
HP:0000005	Mode of inheritance	859	CAV3	OMIM:192600
HP:0000005	Mode of inheritance	859	CAV3	OMIM:606072
HP:0000005	Mode of inheritance	859	CAV3	OMIM:614321
HP:0000005	Mode of inheritance	859	CAV3	OMIM:611818
HP:0000005	Mode of inheritance	23499	MACF1	OMIM:618325
HP:0000005	Mode of inheritance	81839	VANGL1	OMIM:600145
HP:0000005	Mode of inheritance	81839	VANGL1	OMIM:182940
HP:0000005	Mode of inheritance	11231	SEC63	OMIM:617004
HP:0000005	Mode of inheritance	1523	CUX1	OMIM:618330
HP:0000005	Mode of inheritance	58495	OVOL2	OMIM:122000
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:601472
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:600794
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:619042
HP:0000005	Mode of inheritance	4001	LMNB1	OMIM:169500
HP:0000005	Mode of inheritance	4001	LMNB1	OMIM:619179
HP:0000005	Mode of inheritance	3857	KRT9	OMIM:144200
HP:0000005	Mode of inheritance	5575	PRKAR1B	OMIM:619680
HP:0000005	Mode of inheritance	5515	PPP2CA	OMIM:618354
HP:0000005	Mode of inheritance	5610	EIF2AK2	OMIM:619687
HP:0000005	Mode of inheritance	5610	EIF2AK2	OMIM:618877
HP:0000005	Mode of inheritance	518	ATP5MC3	OMIM:619681
HP:0000005	Mode of inheritance	8912	CACNA1H	OMIM:617027
HP:0000005	Mode of inheritance	55777	MBD5	OMIM:156200
HP:0000005	Mode of inheritance	6601	SMARCC2	OMIM:618362
HP:0000005	Mode of inheritance	92255	LMBRD2	OMIM:619694
HP:0000005	Mode of inheritance	7021	TFAP2B	OMIM:617035
HP:0000005	Mode of inheritance	7021	TFAP2B	OMIM:169100
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:618364
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:617080
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:614558
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:614306
HP:0000005	Mode of inheritance	93166	PRDM6	OMIM:617039
HP:0000005	Mode of inheritance	9132	KCNQ4	OMIM:600101
HP:0000005	Mode of inheritance	7703	PCGF2	OMIM:618371
HP:0000005	Mode of inheritance	11342	RNF13	OMIM:618379
HP:0000005	Mode of inheritance	9935	MAFB	OMIM:617041
HP:0000005	Mode of inheritance	9935	MAFB	OMIM:166300
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:617047
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:614065
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:609524
HP:0000005	Mode of inheritance	4761	NEUROD2	OMIM:618374
HP:0000005	Mode of inheritance	208	AKT2	OMIM:240900
HP:0000005	Mode of inheritance	208	AKT2	OMIM:125853
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:180750
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:617746
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:101400
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:123100
HP:0000005	Mode of inheritance	50801	KCNK4	OMIM:618381
HP:0000005	Mode of inheritance	29927	SEC61A1	OMIM:617056
HP:0000005	Mode of inheritance	1413	CRYBA4	OMIM:610425
HP:0000005	Mode of inheritance	5589	PRKCSH	OMIM:174050
HP:0000005	Mode of inheritance	57061	HYMAI	OMIM:601410
HP:0000005	Mode of inheritance	346171	ZFP57	OMIM:601410
HP:0000005	Mode of inheritance	1457	CSNK2A1	OMIM:617062
HP:0000005	Mode of inheritance	9129	PRPF3	OMIM:601414
HP:0000005	Mode of inheritance	7204	TRIO	OMIM:617061
HP:0000005	Mode of inheritance	7204	TRIO	OMIM:618825
HP:0000005	Mode of inheritance	4009	LMX1A	OMIM:601412
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:153100
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:618780
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:602089
HP:0000005	Mode of inheritance	60468	BACH2	OMIM:618394
HP:0000005	Mode of inheritance	4486	MST1R	OMIM:617075
HP:0000005	Mode of inheritance	2521	FUS	OMIM:608030
HP:0000005	Mode of inheritance	2521	FUS	OMIM:614782
HP:0000005	Mode of inheritance	23171	GPD1L	OMIM:611777
HP:0000005	Mode of inheritance	5216	PFN1	OMIM:614808
HP:0000005	Mode of inheritance	81494	CFHR5	OMIM:614809
HP:0000005	Mode of inheritance	7474	WNT5A	OMIM:180700
HP:0000005	Mode of inheritance	1855	DVL1	OMIM:180700
HP:0000005	Mode of inheritance	1855	DVL1	OMIM:616331
HP:0000005	Mode of inheritance	124093	CCDC78	OMIM:614807
HP:0000005	Mode of inheritance	79092	CARD14	OMIM:602723
HP:0000005	Mode of inheritance	79092	CARD14	OMIM:173200
HP:0000005	Mode of inheritance	2034	EPAS1	OMIM:611783
HP:0000005	Mode of inheritance	7042	TGFB2	OMIM:614816
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:611788
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:613834
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:614042
HP:0000005	Mode of inheritance	3516	RBPJ	OMIM:614814
HP:0000005	Mode of inheritance	2294	FOXF1	OMIM:265380
HP:0000005	Mode of inheritance	55811	ADCY10	OMIM:143870
HP:0000005	Mode of inheritance	6440	SFTPC	OMIM:178500
HP:0000005	Mode of inheritance	6440	SFTPC	OMIM:610913
HP:0000005	Mode of inheritance	727897	MUC5B	OMIM:178500
HP:0000005	Mode of inheritance	729238	SFTPA2	OMIM:178500
HP:0000005	Mode of inheritance	23020	SNRNP200	OMIM:610359
HP:0000005	Mode of inheritance	4597	MVD	OMIM:614714
HP:0000005	Mode of inheritance	7780	SLC30A2	OMIM:608118
HP:0000005	Mode of inheritance	2483	FRG1	OMIM:158900
HP:0000005	Mode of inheritance	64324	NSD1	OMIM:117550
HP:0000005	Mode of inheritance	1028	CDKN1C	OMIM:614732
HP:0000005	Mode of inheritance	1028	CDKN1C	OMIM:130650
HP:0000005	Mode of inheritance	10801	SEPTIN9	OMIM:162100
HP:0000005	Mode of inheritance	4760	NEUROD1	OMIM:606394
HP:0000005	Mode of inheritance	4760	NEUROD1	OMIM:125853
HP:0000005	Mode of inheritance	11330	CTRC	OMIM:167800
HP:0000005	Mode of inheritance	5645	PRSS2	OMIM:167800
HP:0000005	Mode of inheritance	5644	PRSS1	OMIM:167800
HP:0000005	Mode of inheritance	23261	CAMTA1	OMIM:614756
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:613424
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:612098
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:612794
HP:0000005	Mode of inheritance	2535	FZD2	OMIM:164745
HP:0000005	Mode of inheritance	6949	TCOF1	OMIM:154500
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:605041
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:132700
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:619132
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:601606
HP:0000005	Mode of inheritance	22907	DHX30	OMIM:617804
HP:0000005	Mode of inheritance	196528	ARID2	OMIM:617808
HP:0000005	Mode of inheritance	9230	RAB11B	OMIM:617807
HP:0000005	Mode of inheritance	26058	GIGYF2	OMIM:607688
HP:0000005	Mode of inheritance	8048	CSRP3	OMIM:612124
HP:0000005	Mode of inheritance	8048	CSRP3	OMIM:607482
HP:0000005	Mode of inheritance	4792	NFKBIA	OMIM:612132
HP:0000005	Mode of inheritance	2561	GABRB2	OMIM:617829
HP:0000005	Mode of inheritance	54822	TRPM7	OMIM:105500
HP:0000005	Mode of inheritance	25953	PNKD	OMIM:118800
HP:0000005	Mode of inheritance	6709	SPTAN1	OMIM:613477
HP:0000005	Mode of inheritance	4915	NTRK2	OMIM:617830
HP:0000005	Mode of inheritance	4915	NTRK2	OMIM:613886
HP:0000005	Mode of inheritance	668	FOXL2	OMIM:608996
HP:0000005	Mode of inheritance	668	FOXL2	OMIM:110100
HP:0000005	Mode of inheritance	311	ANXA11	OMIM:617839
HP:0000005	Mode of inheritance	311	ANXA11	OMIM:619733
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:255960
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:101800
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:160980
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:610489
HP:0000005	Mode of inheritance	3762	KCNJ5	OMIM:613485
HP:0000005	Mode of inheritance	3762	KCNJ5	OMIM:613677
HP:0000005	Mode of inheritance	26060	APPL1	OMIM:616511
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:612158
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:618654
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:618655
HP:0000005	Mode of inheritance	3887	KRT81	OMIM:158000
HP:0000005	Mode of inheritance	3892	KRT86	OMIM:158000
HP:0000005	Mode of inheritance	6812	STXBP1	OMIM:612164
HP:0000005	Mode of inheritance	1213	CLTC	OMIM:617854
HP:0000005	Mode of inheritance	23040	MYT1L	OMIM:616521
HP:0000005	Mode of inheritance	203228	C9orf72	OMIM:105550
HP:0000005	Mode of inheritance	1495	CTNNA1	OMIM:608970
HP:0000005	Mode of inheritance	11235	PDCD10	OMIM:603285
HP:0000005	Mode of inheritance	83605	CCM2	OMIM:603284
HP:0000005	Mode of inheritance	284252	KCTD1	OMIM:181270
HP:0000005	Mode of inheritance	3040	HBA2	OMIM:140700
HP:0000005	Mode of inheritance	3040	HBA2	OMIM:617981
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:140700
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:617973
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:617981
HP:0000005	Mode of inheritance	726	CAPN5	OMIM:193235
HP:0000005	Mode of inheritance	3026	HABP2	OMIM:616535
HP:0000005	Mode of inheritance	3026	HABP2	OMIM:188050
HP:0000005	Mode of inheritance	57688	ZSWIM6	OMIM:617865
HP:0000005	Mode of inheritance	57688	ZSWIM6	OMIM:603671
HP:0000005	Mode of inheritance	2893	GRIA4	OMIM:617864
HP:0000005	Mode of inheritance	3661	IRF3	OMIM:616532
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:127750
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:605543
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:168601
HP:0000005	Mode of inheritance	6620	SNCB	OMIM:127750
HP:0000005	Mode of inheritance	114327	EFHC1	OMIM:607631
HP:0000005	Mode of inheritance	114327	EFHC1	OMIM:254770
HP:0000005	Mode of inheritance	10383	TUBB4B	OMIM:617879
HP:0000005	Mode of inheritance	2213	FCGR2B	OMIM:152700
HP:0000005	Mode of inheritance	26191	PTPN22	OMIM:152700
HP:0000005	Mode of inheritance	1773	DNASE1	OMIM:152700
HP:0000005	Mode of inheritance	1453	CSNK1D	OMIM:615224
HP:0000005	Mode of inheritance	6655	SOS2	OMIM:616559
HP:0000005	Mode of inheritance	23646	PLD3	OMIM:617770
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:617772
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:120100
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:191900
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:148200
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:607115
HP:0000005	Mode of inheritance	343450	KCNT2	OMIM:617771
HP:0000005	Mode of inheritance	51111	KMT5B	OMIM:617788
HP:0000005	Mode of inheritance	55689	YEATS2	OMIM:615127
HP:0000005	Mode of inheritance	80155	NAA15	OMIM:617787
HP:0000005	Mode of inheritance	526	ATP6V1B2	OMIM:616455
HP:0000005	Mode of inheritance	526	ATP6V1B2	OMIM:124480
HP:0000005	Mode of inheritance	1991	ELANE	OMIM:162800
HP:0000005	Mode of inheritance	1991	ELANE	OMIM:202700
HP:0000005	Mode of inheritance	146057	TTBK2	OMIM:604432
HP:0000005	Mode of inheritance	51083	GAL	OMIM:616461
HP:0000005	Mode of inheritance	55870	ASH1L	OMIM:617796
HP:0000005	Mode of inheritance	25885	POLR1A	OMIM:616462
HP:0000005	Mode of inheritance	816	CAMK2B	OMIM:617799
HP:0000005	Mode of inheritance	26057	ANKRD17	OMIM:619504
HP:0000005	Mode of inheritance	9051	PSTPIP1	OMIM:604416
HP:0000005	Mode of inheritance	10043	TOM1	OMIM:619510
HP:0000005	Mode of inheritance	57863	CADM3	OMIM:619519
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:604403
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:619317
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:607208
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:609634
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:604400
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:614302
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:619832
HP:0000005	Mode of inheritance	10021	HCN4	OMIM:619521
HP:0000005	Mode of inheritance	10021	HCN4	OMIM:163800
HP:0000005	Mode of inheritance	7750	ZMYM2	OMIM:619522
HP:0000005	Mode of inheritance	6934	TCF7L2	OMIM:125853
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:125853
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:125850
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:616026
HP:0000005	Mode of inheritance	9479	MAPK8IP1	OMIM:125853
HP:0000005	Mode of inheritance	56729	RETN	OMIM:125853
HP:0000005	Mode of inheritance	4544	MTNR1B	OMIM:125853
HP:0000005	Mode of inheritance	5506	PPP1R3A	OMIM:125853
HP:0000005	Mode of inheritance	10644	IGF2BP2	OMIM:125853
HP:0000005	Mode of inheritance	5770	PTPN1	OMIM:125853
HP:0000005	Mode of inheritance	8660	IRS2	OMIM:125853
HP:0000005	Mode of inheritance	3159	HMGA1	OMIM:125853
HP:0000005	Mode of inheritance	3667	IRS1	OMIM:125853
HP:0000005	Mode of inheritance	169026	SLC30A8	OMIM:125853
HP:0000005	Mode of inheritance	2820	GPD2	OMIM:125853
HP:0000005	Mode of inheritance	57479	PRR12	OMIM:619539
HP:0000005	Mode of inheritance	79651	RHBDF2	OMIM:148500
HP:0000005	Mode of inheritance	1107	CHD3	OMIM:618205
HP:0000005	Mode of inheritance	351	APP	OMIM:605714
HP:0000005	Mode of inheritance	351	APP	OMIM:104300
HP:0000005	Mode of inheritance	6595	SMARCA2	OMIM:601358
HP:0000005	Mode of inheritance	6595	SMARCA2	OMIM:619293
HP:0000005	Mode of inheritance	59345	GNB4	OMIM:615185
HP:0000005	Mode of inheritance	1419	CRYGB	OMIM:615188
HP:0000005	Mode of inheritance	6857	SYT1	OMIM:618218
HP:0000005	Mode of inheritance	6909	TBX2	OMIM:618223
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:261740
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:600858
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:194200
HP:0000005	Mode of inheritance	87	ACTN1	OMIM:615193
HP:0000005	Mode of inheritance	30000	TNPO2	OMIM:619556
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:259420
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166710
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:130060
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:114000
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:619115
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166210
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166220
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166200
HP:0000005	Mode of inheritance	7056	THBD	OMIM:612926
HP:0000005	Mode of inheritance	7056	THBD	OMIM:614486
HP:0000005	Mode of inheritance	80114	BICC1	OMIM:601331
HP:0000005	Mode of inheritance	7555	CNBP	OMIM:602668
HP:0000005	Mode of inheritance	10659	CELF2	OMIM:619561
HP:0000005	Mode of inheritance	7846	TUBA1A	OMIM:611603
HP:0000005	Mode of inheritance	57551	TAOK1	OMIM:619575
HP:0000005	Mode of inheritance	7169	TPM2	OMIM:609285
HP:0000005	Mode of inheritance	7169	TPM2	OMIM:108120
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:192600
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:613251
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:613252
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:614089
HP:0000005	Mode of inheritance	85366	MYLK2	OMIM:192600
HP:0000005	Mode of inheritance	2070	EYA4	OMIM:601316
HP:0000005	Mode of inheritance	2070	EYA4	OMIM:605362
HP:0000005	Mode of inheritance	390594	KBTBD13	OMIM:609273
HP:0000005	Mode of inheritance	151516	ASPRV1	OMIM:146750
HP:0000005	Mode of inheritance	6640	SNTA1	OMIM:612955
HP:0000005	Mode of inheritance	6657	SOX2	OMIM:206900
HP:0000005	Mode of inheritance	9531	BAG3	OMIM:612954
HP:0000005	Mode of inheritance	9531	BAG3	OMIM:613881
HP:0000005	Mode of inheritance	1804	DPP6	OMIM:612956
HP:0000005	Mode of inheritance	1804	DPP6	OMIM:616311
HP:0000005	Mode of inheritance	7225	TRPC6	OMIM:603965
HP:0000005	Mode of inheritance	55229	PANK4	OMIM:619593
HP:0000005	Mode of inheritance	9423	NTN1	OMIM:618264
HP:0000005	Mode of inheritance	5530	PPP3CA	OMIM:618265
HP:0000005	Mode of inheritance	5530	PPP3CA	OMIM:617711
HP:0000005	Mode of inheritance	2254	FGF9	OMIM:612961
HP:0000005	Mode of inheritance	79776	ZFHX4	OMIM:178300
HP:0000005	Mode of inheritance	5375	PMP2	OMIM:618279
HP:0000005	Mode of inheritance	22983	MAST1	OMIM:618273
HP:0000005	Mode of inheritance	745	MYRF	OMIM:618280
HP:0000005	Mode of inheritance	745	MYRF	OMIM:618113
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:188550
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:118700
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:610978
HP:0000005	Mode of inheritance	777	CACNA1E	OMIM:618285
HP:0000005	Mode of inheritance	4781	NFIB	OMIM:618286
HP:0000005	Mode of inheritance	3851	KRT4	OMIM:193900
HP:0000005	Mode of inheritance	5970	RELA	OMIM:618287
HP:0000005	Mode of inheritance	221692	PHACTR1	OMIM:618298
HP:0000005	Mode of inheritance	23224	SYNE2	OMIM:612999
HP:0000005	Mode of inheritance	10262	SF3B4	OMIM:154400
HP:0000005	Mode of inheritance	375	ARF1	OMIM:618185
HP:0000005	Mode of inheritance	2100	ESR2	OMIM:618187
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:615911
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:615048
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:616209
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:611554
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:611553
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:615916
HP:0000005	Mode of inheritance	79755	ZNF750	OMIM:610227
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:186000
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:113300
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:186300
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:113200
HP:0000005	Mode of inheritance	9128	PRPF4	OMIM:615922
HP:0000005	Mode of inheritance	2022	ENG	OMIM:187300
HP:0000005	Mode of inheritance	1687	GSDME	OMIM:600994
HP:0000005	Mode of inheritance	1427	CRYGS	OMIM:116100
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:155755
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:606719
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:155601
HP:0000005	Mode of inheritance	118813	ZFYVE27	OMIM:610244
HP:0000005	Mode of inheritance	340061	STING1	OMIM:615934
HP:0000005	Mode of inheritance	5173	PDYN	OMIM:610245
HP:0000005	Mode of inheritance	10000	AKT3	OMIM:615937
HP:0000005	Mode of inheritance	894	CCND2	OMIM:615938
HP:0000005	Mode of inheritance	8289	ARID1A	OMIM:614607
HP:0000005	Mode of inheritance	3849	KRT2	OMIM:146800
HP:0000005	Mode of inheritance	6597	SMARCA4	OMIM:614609
HP:0000005	Mode of inheritance	6597	SMARCA4	OMIM:613325
HP:0000005	Mode of inheritance	4212	MEIS2	OMIM:600987
HP:0000005	Mode of inheritance	217	ALDH2	OMIM:610251
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:611584
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:609136
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:613266
HP:0000005	Mode of inheritance	5144	PDE4D	OMIM:614613
HP:0000005	Mode of inheritance	1600	DAB1	OMIM:615945
HP:0000005	Mode of inheritance	4582	MUC1	OMIM:174000
HP:0000005	Mode of inheritance	283375	SLC39A5	OMIM:615946
HP:0000005	Mode of inheritance	2335	FN1	OMIM:184255
HP:0000005	Mode of inheritance	2335	FN1	OMIM:601894
HP:0000005	Mode of inheritance	1938	EEF2	OMIM:609306
HP:0000005	Mode of inheritance	83394	PITPNM3	OMIM:600977
HP:0000005	Mode of inheritance	6774	STAT3	OMIM:615952
HP:0000005	Mode of inheritance	6774	STAT3	OMIM:147060
HP:0000005	Mode of inheritance	8419	BFSP2	OMIM:611597
HP:0000005	Mode of inheritance	8626	TP63	OMIM:129400
HP:0000005	Mode of inheritance	8626	TP63	OMIM:604292
HP:0000005	Mode of inheritance	8626	TP63	OMIM:603543
HP:0000005	Mode of inheritance	8626	TP63	OMIM:106260
HP:0000005	Mode of inheritance	8626	TP63	OMIM:103285
HP:0000005	Mode of inheritance	8626	TP63	OMIM:605289
HP:0000005	Mode of inheritance	60481	ELOVL5	OMIM:615957
HP:0000005	Mode of inheritance	2908	NR3C1	OMIM:615962
HP:0000005	Mode of inheritance	488	ATP2A2	OMIM:101900
HP:0000005	Mode of inheritance	488	ATP2A2	OMIM:124200
HP:0000005	Mode of inheritance	6231	RPS26	OMIM:613309
HP:0000005	Mode of inheritance	6204	RPS10	OMIM:613308
HP:0000005	Mode of inheritance	7369	UMOD	OMIM:162000
HP:0000005	Mode of inheritance	23554	TSPAN12	OMIM:613310
HP:0000005	Mode of inheritance	26022	TMEM98	OMIM:615972
HP:0000005	Mode of inheritance	611	OPN1SW	OMIM:190900
HP:0000005	Mode of inheritance	3290	HSD11B1	OMIM:614662
HP:0000005	Mode of inheritance	54205	CYCS	OMIM:612004
HP:0000005	Mode of inheritance	6731	SRP72	OMIM:614675
HP:0000005	Mode of inheritance	287	ANK2	OMIM:600919
HP:0000005	Mode of inheritance	3350	HTR1A	OMIM:614674
HP:0000005	Mode of inheritance	387700	SLC16A12	OMIM:612018
HP:0000005	Mode of inheritance	7784	ZP3	OMIM:617712
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:608874
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:189500
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:106600
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:607541
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:122200
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:121820
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:608470
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:608471
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:121900
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:602082
HP:0000005	Mode of inheritance	7453	WARS1	OMIM:617721
HP:0000005	Mode of inheritance	2006	ELN	OMIM:185500
HP:0000005	Mode of inheritance	2006	ELN	OMIM:123700
HP:0000005	Mode of inheritance	2006	ELN	OMIM:194050
HP:0000005	Mode of inheritance	8988	HSPB3	OMIM:613376
HP:0000005	Mode of inheritance	640	BLK	OMIM:613375
HP:0000005	Mode of inheritance	84617	TUBB6	OMIM:617732
HP:0000005	Mode of inheritance	162514	TRPV3	OMIM:616400
HP:0000005	Mode of inheritance	162514	TRPV3	OMIM:614594
HP:0000005	Mode of inheritance	1917	EEF1A2	OMIM:616409
HP:0000005	Mode of inheritance	1917	EEF1A2	OMIM:616393
HP:0000005	Mode of inheritance	7222	TRPC3	OMIM:616410
HP:0000005	Mode of inheritance	5744	PTHLH	OMIM:613382
HP:0000005	Mode of inheritance	1314	COPA	OMIM:616414
HP:0000005	Mode of inheritance	9213	XPR1	OMIM:616413
HP:0000005	Mode of inheritance	4780	NFE2L2	OMIM:617744
HP:0000005	Mode of inheritance	4626	MYH8	OMIM:608837
HP:0000005	Mode of inheritance	4626	MYH8	OMIM:158300
HP:0000005	Mode of inheritance	6529	SLC6A1	OMIM:616421
HP:0000005	Mode of inheritance	9320	TRIP12	OMIM:617752
HP:0000005	Mode of inheritance	5879	RAC1	OMIM:617751
HP:0000005	Mode of inheritance	2186	BPTF	OMIM:617755
HP:0000005	Mode of inheritance	23435	TARDBP	OMIM:612069
HP:0000005	Mode of inheritance	359948	IRF2BP2	OMIM:617765
HP:0000005	Mode of inheritance	2196	FAT2	OMIM:617769
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:102370
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:604308
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:154700
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:129600
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:616914
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:614185
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:184900
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:608328
HP:0000005	Mode of inheritance	5521	PPP2R2B	OMIM:604326
HP:0000005	Mode of inheritance	3872	KRT17	OMIM:184500
HP:0000005	Mode of inheritance	3872	KRT17	OMIM:167210
HP:0000005	Mode of inheritance	6616	SNAP25	OMIM:616330
HP:0000005	Mode of inheritance	57582	KCNT1	OMIM:615005
HP:0000005	Mode of inheritance	57582	KCNT1	OMIM:614959
HP:0000005	Mode of inheritance	7532	YWHAG	OMIM:617665
HP:0000005	Mode of inheritance	55690	PACS1	OMIM:615009
HP:0000005	Mode of inheritance	3716	JAK1	OMIM:618999
HP:0000005	Mode of inheritance	9885	OSBPL2	OMIM:616340
HP:0000005	Mode of inheritance	7343	UBTF	OMIM:617672
HP:0000005	Mode of inheritance	150094	SIK1	OMIM:616341
HP:0000005	Mode of inheritance	6100	RP9	OMIM:180104
HP:0000005	Mode of inheritance	3614	IMPDH1	OMIM:180105
HP:0000005	Mode of inheritance	3614	IMPDH1	OMIM:613837
HP:0000005	Mode of inheritance	1420	CRYGC	OMIM:604307
HP:0000005	Mode of inheritance	6926	TBX3	OMIM:181450
HP:0000005	Mode of inheritance	10087	CERT1	OMIM:616351
HP:0000005	Mode of inheritance	1105	CHD1	OMIM:617682
HP:0000005	Mode of inheritance	1500	CTNND1	OMIM:617681
HP:0000005	Mode of inheritance	5528	PPP2R5D	OMIM:616355
HP:0000005	Mode of inheritance	1428	CRYM	OMIM:616357
HP:0000005	Mode of inheritance	55065	SLC52A1	OMIM:615026
HP:0000005	Mode of inheritance	26040	SETBP1	OMIM:269150
HP:0000005	Mode of inheritance	26040	SETBP1	OMIM:616078
HP:0000005	Mode of inheritance	9241	NOG	OMIM:185800
HP:0000005	Mode of inheritance	9241	NOG	OMIM:611377
HP:0000005	Mode of inheritance	9241	NOG	OMIM:184460
HP:0000005	Mode of inheritance	9241	NOG	OMIM:186570
HP:0000005	Mode of inheritance	9241	NOG	OMIM:186500
HP:0000005	Mode of inheritance	5518	PPP2R1A	OMIM:616362
HP:0000005	Mode of inheritance	3737	KCNA2	OMIM:616366
HP:0000005	Mode of inheritance	23126	POGZ	OMIM:616364
HP:0000005	Mode of inheritance	27125	AFF4	OMIM:616368
HP:0000005	Mode of inheritance	1909	EDNRA	OMIM:616367
HP:0000005	Mode of inheritance	1909	EDNRA	OMIM:157300
HP:0000005	Mode of inheritance	7075	TIE1	OMIM:619401
HP:0000005	Mode of inheritance	8989	TRPA1	OMIM:615040
HP:0000005	Mode of inheritance	80206	FHOD3	OMIM:619402
HP:0000005	Mode of inheritance	6635	SNRPE	OMIM:615059
HP:0000005	Mode of inheritance	3752	KCND3	OMIM:616399
HP:0000005	Mode of inheritance	3752	KCND3	OMIM:607346
HP:0000005	Mode of inheritance	79734	KCTD17	OMIM:616398
HP:0000005	Mode of inheritance	2202	EFEMP1	OMIM:126600
HP:0000005	Mode of inheritance	7227	TRPS1	OMIM:190350
HP:0000005	Mode of inheritance	7227	TRPS1	OMIM:190351
HP:0000005	Mode of inheritance	7046	TGFBR1	OMIM:609192
HP:0000005	Mode of inheritance	7046	TGFBR1	OMIM:132800
HP:0000005	Mode of inheritance	1642	DDB1	OMIM:619426
HP:0000005	Mode of inheritance	81603	TRIM8	OMIM:619428
HP:0000005	Mode of inheritance	8322	FZD4	OMIM:133780
HP:0000005	Mode of inheritance	57459	GATAD2B	OMIM:615074
HP:0000005	Mode of inheritance	2774	GNAL	OMIM:615073
HP:0000005	Mode of inheritance	56896	DPYSL5	OMIM:619435
HP:0000005	Mode of inheritance	72	ACTG2	OMIM:619431
HP:0000005	Mode of inheritance	72	ACTG2	OMIM:155310
HP:0000005	Mode of inheritance	6418	SET	OMIM:618106
HP:0000005	Mode of inheritance	22806	IKZF3	OMIM:619437
HP:0000005	Mode of inheritance	4838	NODAL	OMIM:270100
HP:0000005	Mode of inheritance	317719	KLHL10	OMIM:615081
HP:0000005	Mode of inheritance	6299	SALL1	OMIM:107480
HP:0000005	Mode of inheritance	1747	DLX3	OMIM:190320
HP:0000005	Mode of inheritance	1747	DLX3	OMIM:104510
HP:0000005	Mode of inheritance	57534	MIB1	OMIM:615092
HP:0000005	Mode of inheritance	3756	KCNH1	OMIM:135500
HP:0000005	Mode of inheritance	3756	KCNH1	OMIM:611816
HP:0000005	Mode of inheritance	8622	PDE8B	OMIM:609161
HP:0000005	Mode of inheritance	8622	PDE8B	OMIM:614190
HP:0000005	Mode of inheritance	6045	RNF2	OMIM:619460
HP:0000005	Mode of inheritance	4627	MYH9	OMIM:155100
HP:0000005	Mode of inheritance	4627	MYH9	OMIM:603622
HP:0000005	Mode of inheritance	22852	ANKRD26	OMIM:188000
HP:0000005	Mode of inheritance	1814	DRD3	OMIM:190300
HP:0000005	Mode of inheritance	1814	DRD3	OMIM:181500
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:609153
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:614497
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:615402
HP:0000005	Mode of inheritance	5137	PDE1C	OMIM:618140
HP:0000005	Mode of inheritance	8812	CCNK	OMIM:618147
HP:0000005	Mode of inheritance	3236	HOXD10	OMIM:192950
HP:0000005	Mode of inheritance	23316	CUX2	OMIM:618141
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:619473
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:618866
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:603472
HP:0000005	Mode of inheritance	6711	SPTBN1	OMIM:619475
HP:0000005	Mode of inheritance	6935	ZEB1	OMIM:609141
HP:0000005	Mode of inheritance	1296	COL8A2	OMIM:609140
HP:0000005	Mode of inheritance	1296	COL8A2	OMIM:136800
HP:0000005	Mode of inheritance	79574	EPS8L3	OMIM:612841
HP:0000005	Mode of inheritance	5378	PMS1	OMIM:120435
HP:0000005	Mode of inheritance	10413	YAP1	OMIM:120433
HP:0000005	Mode of inheritance	11198	SUPT16H	OMIM:619480
HP:0000005	Mode of inheritance	1412	CRYBA2	OMIM:115900
HP:0000005	Mode of inheritance	5058	PAK1	OMIM:618158
HP:0000005	Mode of inheritance	23385	NCSTN	OMIM:142690
HP:0000005	Mode of inheritance	3145	HMBS	OMIM:176000
HP:0000005	Mode of inheritance	3921	RPSA	OMIM:271400
HP:0000005	Mode of inheritance	25978	CHMP2B	OMIM:600795
HP:0000005	Mode of inheritance	81624	DIAPH3	OMIM:609129
HP:0000005	Mode of inheritance	4221	MEN1	OMIM:131100
HP:0000005	Mode of inheritance	84231	TRAF7	OMIM:618164
HP:0000005	Mode of inheritance	116519	APOA5	OMIM:145750
HP:0000005	Mode of inheritance	116519	APOA5	OMIM:144650
HP:0000005	Mode of inheritance	4094	MAF	OMIM:610202
HP:0000005	Mode of inheritance	4094	MAF	OMIM:601088
HP:0000005	Mode of inheritance	4853	NOTCH2	OMIM:610205
HP:0000005	Mode of inheritance	4853	NOTCH2	OMIM:102500
HP:0000005	Mode of inheritance	4327	MMP19	OMIM:611543
HP:0000005	Mode of inheritance	135935	NOBOX	OMIM:611548
HP:0000005	Mode of inheritance	7424	VEGFC	OMIM:615907
HP:0000005	Mode of inheritance	6095	RORA	OMIM:618060
HP:0000005	Mode of inheritance	51726	DNAJB11	OMIM:618061
HP:0000005	Mode of inheritance	677814	SNORA31	OMIM:619396
HP:0000005	Mode of inheritance	23241	PACS2	OMIM:618067
HP:0000005	Mode of inheritance	161742	SPRED1	OMIM:611431
HP:0000005	Mode of inheritance	50717	DCAF8	OMIM:610100
HP:0000005	Mode of inheritance	9839	ZEB2	OMIM:235730
HP:0000005	Mode of inheritance	1411	CRYBA1	OMIM:600881
HP:0000005	Mode of inheritance	7879	RAB7A	OMIM:600882
HP:0000005	Mode of inheritance	27327	TNRC6A	OMIM:618074
HP:0000005	Mode of inheritance	9693	RAPGEF2	OMIM:618075
HP:0000005	Mode of inheritance	10225	CD96	OMIM:211750
HP:0000005	Mode of inheritance	200576	PIKFYVE	OMIM:121850
HP:0000005	Mode of inheritance	6005	RHAG	OMIM:185000
HP:0000005	Mode of inheritance	6005	RHAG	OMIM:268150
HP:0000005	Mode of inheritance	8913	CACNA1G	OMIM:618087
HP:0000005	Mode of inheritance	8913	CACNA1G	OMIM:616795
HP:0000005	Mode of inheritance	64207	IRF2BPL	OMIM:618088
HP:0000005	Mode of inheritance	80204	FBXO11	OMIM:618089
HP:0000005	Mode of inheritance	23522	KAT6B	OMIM:606170
HP:0000005	Mode of inheritance	23522	KAT6B	OMIM:603736
HP:0000005	Mode of inheritance	9149	DYRK1B	OMIM:615812
HP:0000005	Mode of inheritance	5015	OTX2	OMIM:610125
HP:0000005	Mode of inheritance	5015	OTX2	OMIM:613986
HP:0000005	Mode of inheritance	9499	MYOT	OMIM:609200
HP:0000005	Mode of inheritance	64919	BCL11B	OMIM:618092
HP:0000005	Mode of inheritance	64919	BCL11B	OMIM:617237
HP:0000005	Mode of inheritance	6885	MAP3K7	OMIM:157800
HP:0000005	Mode of inheritance	6885	MAP3K7	OMIM:617137
HP:0000005	Mode of inheritance	27245	AHDC1	OMIM:615829
HP:0000005	Mode of inheritance	6234	RPS28	OMIM:606164
HP:0000005	Mode of inheritance	7168	TPM1	OMIM:115196
HP:0000005	Mode of inheritance	7168	TPM1	OMIM:611878
HP:0000005	Mode of inheritance	5566	PRKACA	OMIM:615830
HP:0000005	Mode of inheritance	5566	PRKACA	OMIM:619142
HP:0000005	Mode of inheritance	26053	AUTS2	OMIM:615834
HP:0000005	Mode of inheritance	29914	UBIAD1	OMIM:121800
HP:0000005	Mode of inheritance	799	CALCR	OMIM:166710
HP:0000005	Mode of inheritance	8572	PDLIM4	OMIM:166710
HP:0000005	Mode of inheritance	9992	KCNE2	OMIM:611493
HP:0000005	Mode of inheritance	9992	KCNE2	OMIM:613693
HP:0000005	Mode of inheritance	2146	EZH2	OMIM:277590
HP:0000005	Mode of inheritance	50511	SYCP3	OMIM:270960
HP:0000005	Mode of inheritance	80331	DNAJC5	OMIM:162350
HP:0000005	Mode of inheritance	29123	ANKRD11	OMIM:148050
HP:0000005	Mode of inheritance	2303	FOXC2	OMIM:153400
HP:0000005	Mode of inheritance	6664	SOX11	OMIM:615866
HP:0000005	Mode of inheritance	339453	TMEM240	OMIM:607454
HP:0000005	Mode of inheritance	152137	CCDC50	OMIM:607453
HP:0000005	Mode of inheritance	23592	LEMD3	OMIM:166700
HP:0000005	Mode of inheritance	5979	RET	OMIM:162300
HP:0000005	Mode of inheritance	5979	RET	OMIM:142623
HP:0000005	Mode of inheritance	5979	RET	OMIM:171400
HP:0000005	Mode of inheritance	5979	RET	OMIM:171300
HP:0000005	Mode of inheritance	5979	RET	OMIM:155240
HP:0000005	Mode of inheritance	7026	NR2F2	OMIM:618901
HP:0000005	Mode of inheritance	7026	NR2F2	OMIM:615779
HP:0000005	Mode of inheritance	23394	ADNP	OMIM:615873
HP:0000005	Mode of inheritance	26115	TANC2	OMIM:618906
HP:0000005	Mode of inheritance	8091	HMGA2	OMIM:618908
HP:0000005	Mode of inheritance	724066	ATXN8	OMIM:608768
HP:0000005	Mode of inheritance	6144	RPL21	OMIM:615885
HP:0000005	Mode of inheritance	23291	FBXW11	OMIM:618914
HP:0000005	Mode of inheritance	4363	ABCC1	OMIM:618915
HP:0000005	Mode of inheritance	23097	CDK19	OMIM:618916
HP:0000005	Mode of inheritance	2891	GRIA2	OMIM:618917
HP:0000005	Mode of inheritance	4131	MAP1B	OMIM:618918
HP:0000005	Mode of inheritance	4131	MAP1B	OMIM:619808
HP:0000005	Mode of inheritance	83872	HMCN1	OMIM:603075
HP:0000005	Mode of inheritance	112802	KRT71	OMIM:615896
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:618924
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:613721
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:607745
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:614563
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:614228
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:158600
HP:0000005	Mode of inheritance	64423	INF2	OMIM:613237
HP:0000005	Mode of inheritance	64423	INF2	OMIM:614455
HP:0000005	Mode of inheritance	100134444	KCNJ18	OMIM:613239
HP:0000005	Mode of inheritance	56479	KCNQ5	OMIM:617601
HP:0000005	Mode of inheritance	7134	TNNC1	OMIM:613243
HP:0000005	Mode of inheritance	7134	TNNC1	OMIM:611879
HP:0000005	Mode of inheritance	23152	CIC	OMIM:617600
HP:0000005	Mode of inheritance	80736	SLC44A4	OMIM:617606
HP:0000005	Mode of inheritance	401138	AMTN	OMIM:617607
HP:0000005	Mode of inheritance	84172	POLR1B	OMIM:618939
HP:0000005	Mode of inheritance	60	ACTB	OMIM:243310
HP:0000005	Mode of inheritance	60	ACTB	OMIM:607371
HP:0000005	Mode of inheritance	10755	GIPC1	OMIM:618940
HP:0000005	Mode of inheritance	71	ACTG1	OMIM:614583
HP:0000005	Mode of inheritance	71	ACTG1	OMIM:604717
HP:0000005	Mode of inheritance	7414	VCL	OMIM:613255
HP:0000005	Mode of inheritance	7414	VCL	OMIM:611407
HP:0000005	Mode of inheritance	80232	WDR26	OMIM:617616
HP:0000005	Mode of inheritance	10699	CORIN	OMIM:614595
HP:0000005	Mode of inheritance	2625	GATA3	OMIM:146255
HP:0000005	Mode of inheritance	6925	TCF4	OMIM:613267
HP:0000005	Mode of inheritance	6925	TCF4	OMIM:610954
HP:0000005	Mode of inheritance	5978	REST	OMIM:617626
HP:0000005	Mode of inheritance	5978	REST	OMIM:612431
HP:0000005	Mode of inheritance	5978	REST	OMIM:616806
HP:0000005	Mode of inheritance	9371	KIF3B	OMIM:618955
HP:0000005	Mode of inheritance	1123	CHN1	OMIM:604356
HP:0000005	Mode of inheritance	10274	STAG1	OMIM:617635
HP:0000005	Mode of inheritance	10625	IVNS1ABP	OMIM:618969
HP:0000005	Mode of inheritance	8864	PER2	OMIM:604348
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:136000
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:181600
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:129200
HP:0000005	Mode of inheritance	55553	SOX6	OMIM:618971
HP:0000005	Mode of inheritance	5087	PBX1	OMIM:617641
HP:0000005	Mode of inheritance	84148	KAT8	OMIM:618974
HP:0000005	Mode of inheritance	114902	C1QTNF5	OMIM:605670
HP:0000005	Mode of inheritance	5274	SERPINI1	OMIM:604218
HP:0000005	Mode of inheritance	282996	RBM20	OMIM:613172
HP:0000005	Mode of inheritance	5350	PLN	OMIM:609909
HP:0000005	Mode of inheritance	5350	PLN	OMIM:613874
HP:0000005	Mode of inheritance	85446	ZFHX2	OMIM:147430
HP:0000005	Mode of inheritance	7277	TUBA4A	OMIM:616208
HP:0000005	Mode of inheritance	3008	H1-4	OMIM:617537
HP:0000005	Mode of inheritance	116931	MED12L	OMIM:618872
HP:0000005	Mode of inheritance	387119	CEP85L	OMIM:618873
HP:0000005	Mode of inheritance	23022	PALLD	OMIM:606856
HP:0000005	Mode of inheritance	7528	YY1	OMIM:617557
HP:0000005	Mode of inheritance	8726	EED	OMIM:617561
HP:0000005	Mode of inheritance	844	CASQ1	OMIM:616231
HP:0000005	Mode of inheritance	2773	GNAI3	OMIM:602483
HP:0000005	Mode of inheritance	2296	FOXC1	OMIM:602482
HP:0000005	Mode of inheritance	2296	FOXC1	OMIM:601631
HP:0000005	Mode of inheritance	610	HCN2	OMIM:602477
HP:0000005	Mode of inheritance	805	CALM2	OMIM:616249
HP:0000005	Mode of inheritance	801	CALM1	OMIM:616247
HP:0000005	Mode of inheritance	801	CALM1	OMIM:614916
HP:0000005	Mode of inheritance	4040	LRP6	OMIM:610947
HP:0000005	Mode of inheritance	4040	LRP6	OMIM:616724
HP:0000005	Mode of inheritance	3859	KRT12	OMIM:122100
HP:0000005	Mode of inheritance	7276	TTR	OMIM:145680
HP:0000005	Mode of inheritance	7276	TTR	OMIM:105210
HP:0000005	Mode of inheritance	7276	TTR	OMIM:115430
HP:0000005	Mode of inheritance	5459	POU4F3	OMIM:602459
HP:0000005	Mode of inheritance	54941	RNF125	OMIM:616260
HP:0000005	Mode of inheritance	7994	KAT6A	OMIM:616268
HP:0000005	Mode of inheritance	387733	IFITM5	OMIM:610967
HP:0000005	Mode of inheritance	255738	PCSK9	OMIM:603776
HP:0000005	Mode of inheritance	146862	UNC45B	OMIM:616279
HP:0000005	Mode of inheritance	146862	UNC45B	OMIM:619178
HP:0000005	Mode of inheritance	5898	RALA	OMIM:619311
HP:0000005	Mode of inheritance	23013	SPEN	OMIM:619312
HP:0000005	Mode of inheritance	126129	CPT1C	OMIM:616282
HP:0000005	Mode of inheritance	6477	SIAH1	OMIM:619314
HP:0000005	Mode of inheritance	9620	CELSR1	OMIM:619319
HP:0000005	Mode of inheritance	84699	CREB3L3	OMIM:619324
HP:0000005	Mode of inheritance	29998	BICRA	OMIM:619325
HP:0000005	Mode of inheritance	23586	RIGI	OMIM:616298
HP:0000005	Mode of inheritance	23030	KDM4B	OMIM:619320
HP:0000005	Mode of inheritance	5010	CLDN11	OMIM:619328
HP:0000005	Mode of inheritance	1289	COL5A1	OMIM:619329
HP:0000005	Mode of inheritance	1289	COL5A1	OMIM:130000
HP:0000005	Mode of inheritance	23221	RHOBTB2	OMIM:618004
HP:0000005	Mode of inheritance	5318	PKP2	OMIM:609040
HP:0000005	Mode of inheritance	26999	CYFIP2	OMIM:618008
HP:0000005	Mode of inheritance	9969	MED13	OMIM:618009
HP:0000005	Mode of inheritance	2253	FGF8	OMIM:612702
HP:0000005	Mode of inheritance	1019	CDK4	OMIM:609048
HP:0000005	Mode of inheritance	27032	ATP2C1	OMIM:169600
HP:0000005	Mode of inheritance	10845	CLPX	OMIM:618015
HP:0000005	Mode of inheritance	4905	NSF	OMIM:619340
HP:0000005	Mode of inheritance	5977	DPF2	OMIM:618027
HP:0000005	Mode of inheritance	5457	POU4F1	OMIM:619352
HP:0000005	Mode of inheritance	284	ANGPT1	OMIM:619361
HP:0000005	Mode of inheritance	26509	MYOF	OMIM:619366
HP:0000005	Mode of inheritance	64711	HS3ST6	OMIM:619367
HP:0000005	Mode of inheritance	285	ANGPT2	OMIM:619369
HP:0000005	Mode of inheritance	23154	NCDN	OMIM:619373
HP:0000005	Mode of inheritance	4938	OAS1	OMIM:618042
HP:0000005	Mode of inheritance	8651	SOCS1	OMIM:619375
HP:0000005	Mode of inheritance	1984	EIF5A	OMIM:619376
HP:0000005	Mode of inheritance	11011	TLK2	OMIM:618050
HP:0000005	Mode of inheritance	6850	SYK	OMIM:619381
HP:0000005	Mode of inheritance	23193	GANAB	OMIM:600666
HP:0000005	Mode of inheritance	1066	CES1	OMIM:618057
HP:0000005	Mode of inheritance	1312	COMT	OMIM:167870
HP:0000005	Mode of inheritance	1312	COMT	OMIM:181500
HP:0000005	Mode of inheritance	27183	VPS4A	OMIM:619273
HP:0000005	Mode of inheritance	2077	ERF	OMIM:600775
HP:0000005	Mode of inheritance	2077	ERF	OMIM:617180
HP:0000005	Mode of inheritance	7384	UQCRC1	OMIM:619279
HP:0000005	Mode of inheritance	9782	MATR3	OMIM:606070
HP:0000005	Mode of inheritance	2904	GRIN2B	OMIM:613970
HP:0000005	Mode of inheritance	2904	GRIN2B	OMIM:616139
HP:0000005	Mode of inheritance	3209	HOXA13	OMIM:140000
HP:0000005	Mode of inheritance	3209	HOXA13	OMIM:176305
HP:0000005	Mode of inheritance	3048	HBG2	OMIM:613977
HP:0000005	Mode of inheritance	3048	HBG2	OMIM:141749
HP:0000005	Mode of inheritance	2255	FGF10	OMIM:180920
HP:0000005	Mode of inheritance	2255	FGF10	OMIM:620193
HP:0000005	Mode of inheritance	24148	PRPF6	OMIM:613983
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:613980
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:609622
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:170390
HP:0000005	Mode of inheritance	6507	SLC1A3	OMIM:612656
HP:0000005	Mode of inheritance	30061	SLC40A1	OMIM:606069
HP:0000005	Mode of inheritance	64601	VPS16	OMIM:619291
HP:0000005	Mode of inheritance	3899	AFF3	OMIM:619297
HP:0000005	Mode of inheritance	7132	TNFRSF1A	OMIM:142680
HP:0000005	Mode of inheritance	10716	TBR1	OMIM:606053
HP:0000005	Mode of inheritance	1175	AP2S1	OMIM:600740
HP:0000005	Mode of inheritance	6262	RYR2	OMIM:115000
HP:0000005	Mode of inheritance	6262	RYR2	OMIM:604772
HP:0000005	Mode of inheritance	374393	FAM111B	OMIM:615704
HP:0000005	Mode of inheritance	347733	TUBB2B	OMIM:610031
HP:0000005	Mode of inheritance	57057	TBX20	OMIM:611363
HP:0000005	Mode of inheritance	7025	NR2F1	OMIM:615722
HP:0000005	Mode of inheritance	3854	KRT6B	OMIM:615728
HP:0000005	Mode of inheritance	3853	KRT6A	OMIM:615726
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:187500
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:614429
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:614430
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:607941
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:615542
HP:0000005	Mode of inheritance	23414	ZFPM2	OMIM:187500
HP:0000005	Mode of inheritance	23414	ZFPM2	OMIM:616067
HP:0000005	Mode of inheritance	10984	KCNQ1OT1	OMIM:130650
HP:0000005	Mode of inheritance	286887	KRT6C	OMIM:615735
HP:0000005	Mode of inheritance	1634	DCN	OMIM:610048
HP:0000005	Mode of inheritance	63901	FAM111A	OMIM:127000
HP:0000005	Mode of inheritance	63901	FAM111A	OMIM:602361
HP:0000005	Mode of inheritance	26353	HSPB8	OMIM:608673
HP:0000005	Mode of inheritance	26353	HSPB8	OMIM:158590
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:174200
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:175700
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:174700
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:146510
HP:0000005	Mode of inheritance	2554	GABRA1	OMIM:615744
HP:0000005	Mode of inheritance	5328	PLAU	OMIM:104300
HP:0000005	Mode of inheritance	5328	PLAU	OMIM:601709
HP:0000005	Mode of inheritance	57167	SALL4	OMIM:607323
HP:0000005	Mode of inheritance	57167	SALL4	OMIM:147750
HP:0000005	Mode of inheritance	55209	SETD5	OMIM:615761
HP:0000005	Mode of inheritance	10370	CITED2	OMIM:614433
HP:0000005	Mode of inheritance	10370	CITED2	OMIM:614431
HP:0000005	Mode of inheritance	7280	TUBB2A	OMIM:615763
HP:0000005	Mode of inheritance	2672	GFI1	OMIM:613107
HP:0000005	Mode of inheritance	2672	GFI1	OMIM:607847
HP:0000005	Mode of inheritance	3315	HSPB1	OMIM:608634
HP:0000005	Mode of inheritance	3315	HSPB1	OMIM:606595
HP:0000005	Mode of inheritance	203068	TUBB	OMIM:615771
HP:0000005	Mode of inheritance	203068	TUBB	OMIM:156610
HP:0000005	Mode of inheritance	81027	TUBB1	OMIM:613112
HP:0000005	Mode of inheritance	3273	HRG	OMIM:613116
HP:0000005	Mode of inheritance	10008	KCNE3	OMIM:613119
HP:0000005	Mode of inheritance	9217	VAPB	OMIM:608627
HP:0000005	Mode of inheritance	9217	VAPB	OMIM:182980
HP:0000005	Mode of inheritance	7067	THRA	OMIM:614450
HP:0000005	Mode of inheritance	55800	SCN3B	OMIM:613120
HP:0000005	Mode of inheritance	91624	NEXN	OMIM:613122
HP:0000005	Mode of inheritance	91624	NEXN	OMIM:613876
HP:0000005	Mode of inheritance	3860	KRT13	OMIM:615785
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:605594
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125500
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125420
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125490
HP:0000005	Mode of inheritance	9493	KIF23	OMIM:105600
HP:0000005	Mode of inheritance	6628	SNRPB	OMIM:117650
HP:0000005	Mode of inheritance	29894	CPSF1	OMIM:618827
HP:0000005	Mode of inheritance	4659	PPP1R12A	OMIM:618820
HP:0000005	Mode of inheritance	5336	PLCG2	OMIM:614468
HP:0000005	Mode of inheritance	5336	PLCG2	OMIM:614878
HP:0000005	Mode of inheritance	246213	SLC17A8	OMIM:605583
HP:0000005	Mode of inheritance	8405	SPOP	OMIM:618828
HP:0000005	Mode of inheritance	8405	SPOP	OMIM:618829
HP:0000005	Mode of inheritance	22871	NLGN1	OMIM:618830
HP:0000005	Mode of inheritance	5500	PPP1CB	OMIM:617506
HP:0000005	Mode of inheritance	9739	SETD1A	OMIM:618832
HP:0000005	Mode of inheritance	9739	SETD1A	OMIM:619056
HP:0000005	Mode of inheritance	10210	TOPORS	OMIM:609923
HP:0000005	Mode of inheritance	79625	NDNF	OMIM:618841
HP:0000005	Mode of inheritance	7431	VIM	OMIM:116300
HP:0000005	Mode of inheritance	51780	KDM3B	OMIM:618846
HP:0000005	Mode of inheritance	4194	MDM4	OMIM:618849
HP:0000005	Mode of inheritance	5718	PSMD12	OMIM:617516
HP:0000005	Mode of inheritance	166929	SGMS2	OMIM:126550
HP:0000005	Mode of inheritance	6223	RPS19	OMIM:105650
HP:0000005	Mode of inheritance	5664	PSEN2	OMIM:606889
HP:0000005	Mode of inheritance	5664	PSEN2	OMIM:613697
HP:0000005	Mode of inheritance	65266	WNK4	OMIM:614491
HP:0000005	Mode of inheritance	23001	WDFY3	OMIM:617520
HP:0000005	Mode of inheritance	8452	CUL3	OMIM:614496
HP:0000005	Mode of inheritance	8452	CUL3	OMIM:619239
HP:0000005	Mode of inheritance	127534	GJB4	OMIM:617524
HP:0000005	Mode of inheritance	4858	NOVA2	OMIM:618859
HP:0000005	Mode of inheritance	401474	SAMD12	OMIM:601068
HP:0000005	Mode of inheritance	1024	CDK8	OMIM:618748
HP:0000005	Mode of inheritance	6228	RPS23	OMIM:617412
HP:0000005	Mode of inheritance	2563	GABRD	OMIM:613060
HP:0000005	Mode of inheritance	308	ANXA5	OMIM:614391
HP:0000005	Mode of inheritance	407053	MIR96	OMIM:613074
HP:0000005	Mode of inheritance	6844	VAMP2	OMIM:618760
HP:0000005	Mode of inheritance	130340	AP1S3	OMIM:616106
HP:0000005	Mode of inheritance	7852	CXCR4	OMIM:193670
HP:0000005	Mode of inheritance	3850	KRT3	OMIM:618767
HP:0000005	Mode of inheritance	7092	TLL1	OMIM:613087
HP:0000005	Mode of inheritance	51086	TNNI3K	OMIM:616117
HP:0000005	Mode of inheritance	58484	NLRC4	OMIM:616115
HP:0000005	Mode of inheritance	58484	NLRC4	OMIM:616050
HP:0000005	Mode of inheritance	8295	TRRAP	OMIM:618778
HP:0000005	Mode of inheritance	8295	TRRAP	OMIM:618454
HP:0000005	Mode of inheritance	2201	FBN2	OMIM:616118
HP:0000005	Mode of inheritance	2201	FBN2	OMIM:121050
HP:0000005	Mode of inheritance	6602	SMARCD1	OMIM:618779
HP:0000005	Mode of inheritance	57822	GRHL3	OMIM:606713
HP:0000005	Mode of inheritance	2057	EPOR	OMIM:133100
HP:0000005	Mode of inheritance	5034	P4HB	OMIM:112240
HP:0000005	Mode of inheritance	23512	SUZ12	OMIM:618786
HP:0000005	Mode of inheritance	1969	EPHA2	OMIM:116600
HP:0000005	Mode of inheritance	808	CALM3	OMIM:618782
HP:0000005	Mode of inheritance	5357	PLS1	OMIM:618787
HP:0000005	Mode of inheritance	79718	TBL1XR1	OMIM:602342
HP:0000005	Mode of inheritance	79718	TBL1XR1	OMIM:616944
HP:0000005	Mode of inheritance	715	C1R	OMIM:130080
HP:0000005	Mode of inheritance	51339	DACT1	OMIM:617466
HP:0000005	Mode of inheritance	1742	DLG4	OMIM:618793
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:601005
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:620029
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:618447
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:611875
HP:0000005	Mode of inheritance	3617	IMPG1	OMIM:616151
HP:0000005	Mode of inheritance	3617	IMPG1	OMIM:153870
HP:0000005	Mode of inheritance	5813	PURA	OMIM:616158
HP:0000005	Mode of inheritance	4175	MCM6	OMIM:223100
HP:0000005	Mode of inheritance	22999	RIMS1	OMIM:603649
HP:0000005	Mode of inheritance	2775	GNAO1	OMIM:617493
HP:0000005	Mode of inheritance	2775	GNAO1	OMIM:615473
HP:0000005	Mode of inheritance	8076	MFAP5	OMIM:616166
HP:0000005	Mode of inheritance	89884	LHX4	OMIM:262700
HP:0000005	Mode of inheritance	7415	VCP	OMIM:167320
HP:0000005	Mode of inheritance	7415	VCP	OMIM:613954
HP:0000005	Mode of inheritance	7415	VCP	OMIM:616687
HP:0000005	Mode of inheritance	57216	VANGL2	OMIM:182940
HP:0000005	Mode of inheritance	6347	CCL2	OMIM:182940
HP:0000005	Mode of inheritance	80199	FUZ	OMIM:182940
HP:0000005	Mode of inheritance	112755	STX1B	OMIM:616172
HP:0000005	Mode of inheritance	6092	ROBO2	OMIM:610878
HP:0000005	Mode of inheritance	343641	TGM6	OMIM:613908
HP:0000005	Mode of inheritance	486	FXYD2	OMIM:154020
HP:0000005	Mode of inheritance	3746	KCNC1	OMIM:616187
HP:0000005	Mode of inheritance	219972	MPEG1	OMIM:619223
HP:0000005	Mode of inheritance	4613	MYCN	OMIM:164280
HP:0000005	Mode of inheritance	51729	WBP11	OMIM:619227
HP:0000005	Mode of inheritance	6304	SATB1	OMIM:619228
HP:0000005	Mode of inheritance	6304	SATB1	OMIM:619229
HP:0000005	Mode of inheritance	147912	SIX5	OMIM:610896
HP:0000005	Mode of inheritance	80036	TRPM3	OMIM:620224
HP:0000005	Mode of inheritance	80036	TRPM3	OMIM:620253
HP:0000005	Mode of inheritance	23112	TNRC6B	OMIM:619243
HP:0000005	Mode of inheritance	6508	SLC4A3	OMIM:620231
HP:0000005	Mode of inheritance	2700	GJA3	OMIM:601885
HP:0000005	Mode of inheritance	1290	COL5A2	OMIM:130010
HP:0000005	Mode of inheritance	55605	KIF21A	OMIM:135700
HP:0000005	Mode of inheritance	8831	SYNGAP1	OMIM:612621
HP:0000005	Mode of inheritance	7716	VEZF1	OMIM:620247
HP:0000005	Mode of inheritance	6532	SLC6A4	OMIM:164230
HP:0000005	Mode of inheritance	112744	IL17F	OMIM:613956
HP:0000005	Mode of inheritance	133396	IL31RA	OMIM:613955
HP:0000005	Mode of inheritance	81615	TMEM163	OMIM:620243
HP:0000005	Mode of inheritance	2767	GNA11	OMIM:145981
HP:0000005	Mode of inheritance	2767	GNA11	OMIM:615361
HP:0000005	Mode of inheritance	79784	MYH14	OMIM:600652
HP:0000005	Mode of inheritance	79784	MYH14	OMIM:614369
HP:0000005	Mode of inheritance	26960	NBEA	OMIM:619157
HP:0000005	Mode of inheritance	6165	RPL35A	OMIM:612528
HP:0000005	Mode of inheritance	6218	RPS17	OMIM:612527
HP:0000005	Mode of inheritance	51343	FZR1	OMIM:620145
HP:0000005	Mode of inheritance	10093	ARPC4	OMIM:620141
HP:0000005	Mode of inheritance	4016	LOXL1	OMIM:177650
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:620157
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:620155
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:616831
HP:0000005	Mode of inheritance	4884	NPTX1	OMIM:620158
HP:0000005	Mode of inheritance	58528	RRAGD	OMIM:620152
HP:0000005	Mode of inheritance	7125	TNNC2	OMIM:620161
HP:0000005	Mode of inheritance	1185	CLCN6	OMIM:619173
HP:0000005	Mode of inheritance	6452	SH3BP2	OMIM:118400
HP:0000005	Mode of inheritance	10381	TUBB3	OMIM:600638
HP:0000005	Mode of inheritance	10381	TUBB3	OMIM:614039
HP:0000005	Mode of inheritance	5346	PLIN1	OMIM:613877
HP:0000005	Mode of inheritance	29967	LRP12	OMIM:164310
HP:0000005	Mode of inheritance	23036	ZNF292	OMIM:619188
HP:0000005	Mode of inheritance	342618	SLFN14	OMIM:616913
HP:0000005	Mode of inheritance	9096	TBX18	OMIM:143400
HP:0000005	Mode of inheritance	2259	FGF14	OMIM:620174
HP:0000005	Mode of inheritance	2259	FGF14	OMIM:193003
HP:0000005	Mode of inheritance	6135	RPL11	OMIM:612562
HP:0000005	Mode of inheritance	6125	RPL5	OMIM:612561
HP:0000005	Mode of inheritance	6201	RPS7	OMIM:612563
HP:0000005	Mode of inheritance	8085	KMT2D	OMIM:620186
HP:0000005	Mode of inheritance	8085	KMT2D	OMIM:147920
HP:0000005	Mode of inheritance	11146	GLMN	OMIM:138000
HP:0000005	Mode of inheritance	1962	EHHADH	OMIM:615605
HP:0000005	Mode of inheritance	8106	PABPN1	OMIM:164300
HP:0000005	Mode of inheritance	1013	CDH15	OMIM:612580
HP:0000005	Mode of inheritance	29119	CTNNA3	OMIM:615616
HP:0000005	Mode of inheritance	5424	POLD1	OMIM:612591
HP:0000005	Mode of inheritance	5424	POLD1	OMIM:615381
HP:0000005	Mode of inheritance	3371	TNC	OMIM:615629
HP:0000005	Mode of inheritance	3640	INSL3	OMIM:219050
HP:0000005	Mode of inheritance	2934	GSN	OMIM:105120
HP:0000005	Mode of inheritance	25923	ATL3	OMIM:615632
HP:0000005	Mode of inheritance	4171	MCM2	OMIM:616968
HP:0000005	Mode of inheritance	406960	MIR184	OMIM:614303
HP:0000005	Mode of inheritance	3067	HDC	OMIM:137580
HP:0000005	Mode of inheritance	8763	CD164	OMIM:616969
HP:0000005	Mode of inheritance	1837	DTNA	OMIM:604169
HP:0000005	Mode of inheritance	53630	BCO1	OMIM:115300
HP:0000005	Mode of inheritance	473	RERE	OMIM:616975
HP:0000005	Mode of inheritance	3097	HIVEP2	OMIM:616977
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:614327
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:606661
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:619762
HP:0000005	Mode of inheritance	7050	TGIF1	OMIM:142946
HP:0000005	Mode of inheritance	4507	MTAP	OMIM:112250
HP:0000005	Mode of inheritance	3868	KRT16	OMIM:613000
HP:0000005	Mode of inheritance	3868	KRT16	OMIM:167200
HP:0000005	Mode of inheritance	8929	PHOX2B	OMIM:613013
HP:0000005	Mode of inheritance	8929	PHOX2B	OMIM:209880
HP:0000005	Mode of inheritance	286077	FAM83H	OMIM:130900
HP:0000005	Mode of inheritance	54583	EGLN1	OMIM:609820
HP:0000005	Mode of inheritance	8936	WASF1	OMIM:618707
HP:0000005	Mode of inheritance	28514	DLL1	OMIM:618709
HP:0000005	Mode of inheritance	1056	CEL	OMIM:609812
HP:0000005	Mode of inheritance	1786	DNMT1	OMIM:604121
HP:0000005	Mode of inheritance	1786	DNMT1	OMIM:614116
HP:0000005	Mode of inheritance	9516	LITAF	OMIM:601098
HP:0000005	Mode of inheritance	93649	MYOCD	OMIM:618719
HP:0000005	Mode of inheritance	4014	LORICRIN	OMIM:604117
HP:0000005	Mode of inheritance	51317	PHF21A	OMIM:618725
HP:0000005	Mode of inheritance	6137	RPL13	OMIM:618728
HP:0000005	Mode of inheritance	646	BNC1	OMIM:618723
HP:0000005	Mode of inheritance	6910	TBX5	OMIM:142900
HP:0000005	Mode of inheritance	116369	SLC26A8	OMIM:606766
HP:0000005	Mode of inheritance	4153	MBL2	OMIM:614372
HP:0000005	Mode of inheritance	10654	PMVK	OMIM:175800
HP:0000005	Mode of inheritance	7545	ZIC1	OMIM:618736
HP:0000005	Mode of inheritance	7545	ZIC1	OMIM:616602
HP:0000005	Mode of inheritance	1460	CSNK2B	OMIM:618732
HP:0000005	Mode of inheritance	6155	RPL27	OMIM:617408
HP:0000005	Mode of inheritance	8449	DHX16	OMIM:618733
HP:0000005	Mode of inheritance	2746	GLUD1	OMIM:606762
HP:0000005	Mode of inheritance	3207	HOXA11	OMIM:605432
HP:0000005	Mode of inheritance	6232	RPS27	OMIM:617409
HP:0000005	Mode of inheritance	735	C9	OMIM:615591
HP:0000005	Mode of inheritance	8367	H4C5	OMIM:619950
HP:0000005	Mode of inheritance	8294	H4C9	OMIM:619951
HP:0000005	Mode of inheritance	63036	CELA2A	OMIM:618620
HP:0000005	Mode of inheritance	55654	TMEM127	OMIM:171300
HP:0000005	Mode of inheritance	4149	MAX	OMIM:171300
HP:0000005	Mode of inheritance	10054	UBA2	OMIM:619959
HP:0000005	Mode of inheritance	22800	RRAS2	OMIM:618624
HP:0000005	Mode of inheritance	6720	SREBF1	OMIM:158310
HP:0000005	Mode of inheritance	6720	SREBF1	OMIM:619016
HP:0000005	Mode of inheritance	101060691	NUTM2B-AS1	OMIM:618637
HP:0000005	Mode of inheritance	2670	GFAP	OMIM:203450
HP:0000005	Mode of inheritance	10565	ARFGEF1	OMIM:619964
HP:0000005	Mode of inheritance	8930	MBD4	OMIM:619975
HP:0000005	Mode of inheritance	8930	MBD4	OMIM:606660
HP:0000005	Mode of inheritance	7123	CLEC3B	OMIM:619977
HP:0000005	Mode of inheritance	22884	WDR37	OMIM:618652
HP:0000005	Mode of inheritance	1656	DDX6	OMIM:618653
HP:0000005	Mode of inheritance	57178	ZMIZ1	OMIM:618659
HP:0000005	Mode of inheritance	3782	KCNN3	OMIM:618658
HP:0000005	Mode of inheritance	25794	FSCN2	OMIM:607921
HP:0000005	Mode of inheritance	253738	EBF3	OMIM:617330
HP:0000005	Mode of inheritance	7862	BRPF1	OMIM:617333
HP:0000005	Mode of inheritance	126695	KDF1	OMIM:617337
HP:0000005	Mode of inheritance	389692	MAFA	OMIM:147630
HP:0000005	Mode of inheritance	131405	TRIM71	OMIM:618667
HP:0000005	Mode of inheritance	55596	ZCCHC8	OMIM:618674
HP:0000005	Mode of inheritance	4849	CNOT3	OMIM:618672
HP:0000005	Mode of inheritance	3835	KIF22	OMIM:603546
HP:0000005	Mode of inheritance	285282	RABL3	OMIM:618680
HP:0000005	Mode of inheritance	4851	NOTCH1	OMIM:616028
HP:0000005	Mode of inheritance	4851	NOTCH1	OMIM:109730
HP:0000005	Mode of inheritance	9725	TMEM63A	OMIM:618688
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:168550
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:168500
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:604757
HP:0000005	Mode of inheritance	54443	ANLN	OMIM:616032
HP:0000005	Mode of inheritance	8621	CDK13	OMIM:617360
HP:0000005	Mode of inheritance	5310	PKD1	OMIM:173900
HP:0000005	Mode of inheritance	5587	PRKD1	OMIM:617364
HP:0000005	Mode of inheritance	2302	FOXJ1	OMIM:618699
HP:0000005	Mode of inheritance	10049	DNAJB6	OMIM:603511
HP:0000005	Mode of inheritance	3745	KCNB1	OMIM:616056
HP:0000005	Mode of inheritance	23780	APOL2	OMIM:181500
HP:0000005	Mode of inheritance	267012	DAOA	OMIM:181500
HP:0000005	Mode of inheritance	6854	SYN2	OMIM:181500
HP:0000005	Mode of inheritance	27184	DISC2	OMIM:181500
HP:0000005	Mode of inheritance	65078	RTN4R	OMIM:181500
HP:0000005	Mode of inheritance	80832	APOL4	OMIM:181500
HP:0000005	Mode of inheritance	1116	CHI3L1	OMIM:181500
HP:0000005	Mode of inheritance	1027	CDKN1B	OMIM:610755
HP:0000005	Mode of inheritance	9126	SMC3	OMIM:610759
HP:0000005	Mode of inheritance	3192	HNRNPU	OMIM:617391
HP:0000005	Mode of inheritance	63910	SLC17A9	OMIM:616063
HP:0000005	Mode of inheritance	112939	NACC1	OMIM:617393
HP:0000005	Mode of inheritance	10524	KAT5	OMIM:619103
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:616079
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:117300
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:176500
HP:0000005	Mode of inheritance	10771	ZMYND11	OMIM:616083
HP:0000005	Mode of inheritance	1300	COL10A1	OMIM:156500
HP:0000005	Mode of inheritance	3839	KPNA3	OMIM:620106
HP:0000005	Mode of inheritance	80320	SP6	OMIM:620104
HP:0000005	Mode of inheritance	7078	TIMP3	OMIM:136900
HP:0000005	Mode of inheritance	6253	RTN2	OMIM:604805
HP:0000005	Mode of inheritance	10220	GDF11	OMIM:619122
HP:0000005	Mode of inheritance	23031	MAST3	OMIM:620115
HP:0000005	Mode of inheritance	8911	CACNA1I	OMIM:620114
HP:0000005	Mode of inheritance	3710	ITPR3	OMIM:620111
HP:0000005	Mode of inheritance	2979	GUCA1B	OMIM:613827
HP:0000005	Mode of inheritance	64376	IKZF5	OMIM:619130
HP:0000005	Mode of inheritance	51778	MYOZ2	OMIM:613838
HP:0000005	Mode of inheritance	654	BMP6	OMIM:620121
HP:0000005	Mode of inheritance	899	CCNF	OMIM:619141
HP:0000005	Mode of inheritance	860	RUNX2	OMIM:156510
HP:0000005	Mode of inheritance	860	RUNX2	OMIM:119600
HP:0000005	Mode of inheritance	27161	AGO2	OMIM:619149
HP:0000005	Mode of inheritance	5567	PRKACB	OMIM:619143
HP:0000005	Mode of inheritance	1462	VCAN	OMIM:143200
HP:0000005	Mode of inheritance	23019	CNOT1	OMIM:619033
HP:0000005	Mode of inheritance	23019	CNOT1	OMIM:618500
HP:0000005	Mode of inheritance	55851	PSENEN	OMIM:613736
HP:0000005	Mode of inheritance	7003	TEAD1	OMIM:108985
HP:0000005	Mode of inheritance	10992	SF3B2	OMIM:164210
HP:0000005	Mode of inheritance	355	FAS	OMIM:601859
HP:0000005	Mode of inheritance	5498	PPOX	OMIM:176200
HP:0000005	Mode of inheritance	64780	MICAL1	OMIM:600512
HP:0000005	Mode of inheritance	9211	LGI1	OMIM:600512
HP:0000005	Mode of inheritance	93	ACVR2B	OMIM:613751
HP:0000005	Mode of inheritance	6575	SLC20A2	OMIM:213600
HP:0000005	Mode of inheritance	4214	MAP3K1	OMIM:613762
HP:0000005	Mode of inheritance	29880	ALG5	OMIM:620056
HP:0000005	Mode of inheritance	1576	CYP3A4	OMIM:619073
HP:0000005	Mode of inheritance	4953	ODC1	OMIM:619075
HP:0000005	Mode of inheritance	22900	CARD8	OMIM:619079
HP:0000005	Mode of inheritance	6660	SOX5	OMIM:616803
HP:0000005	Mode of inheritance	22859	ADGRL1	OMIM:620065
HP:0000005	Mode of inheritance	10236	HNRNPR	OMIM:620073
HP:0000005	Mode of inheritance	51611	DPH5	OMIM:620070
HP:0000005	Mode of inheritance	79966	SCD5	OMIM:619086
HP:0000005	Mode of inheritance	402	ARL2	OMIM:619082
HP:0000005	Mode of inheritance	10253	SPRY2	OMIM:616818
HP:0000005	Mode of inheritance	6742	SSBP1	OMIM:165510
HP:0000005	Mode of inheritance	51085	MLXIPL	OMIM:194050
HP:0000005	Mode of inheritance	3187	HNRNPH1	OMIM:620083
HP:0000005	Mode of inheritance	22880	MORC2	OMIM:619090
HP:0000005	Mode of inheritance	22880	MORC2	OMIM:616688
HP:0000005	Mode of inheritance	11117	EMILIN1	OMIM:620080
HP:0000005	Mode of inheritance	4088	SMAD3	OMIM:613795
HP:0000005	Mode of inheritance	506	ATP5F1B	OMIM:620085
HP:0000005	Mode of inheritance	92154	MTSS2	OMIM:620086
HP:0000005	Mode of inheritance	84978	FRMD5	OMIM:620094
HP:0000005	Mode of inheritance	51053	GMNN	OMIM:616835
HP:0000005	Mode of inheritance	10664	CTCF	OMIM:615502
HP:0000005	Mode of inheritance	57592	ZNF687	OMIM:616833
HP:0000005	Mode of inheritance	23534	TNPO3	OMIM:608423
HP:0000005	Mode of inheritance	2658	GDF2	OMIM:615506
HP:0000005	Mode of inheritance	3720	JARID2	OMIM:620098
HP:0000005	Mode of inheritance	865	CBFB	OMIM:620099
HP:0000005	Mode of inheritance	147495	APCDD1	OMIM:605389
HP:0000005	Mode of inheritance	2066	ERBB4	OMIM:615515
HP:0000005	Mode of inheritance	2495	FTH1	OMIM:615517
HP:0000005	Mode of inheritance	128866	CHMP4B	OMIM:605387
HP:0000005	Mode of inheritance	9094	UNC119	OMIM:615518
HP:0000005	Mode of inheritance	123624	AGBL1	OMIM:615523
HP:0000005	Mode of inheritance	1141	CHRNB2	OMIM:605375
HP:0000005	Mode of inheritance	55737	VPS35	OMIM:614203
HP:0000005	Mode of inheritance	7874	USP7	OMIM:616863
HP:0000005	Mode of inheritance	102	ADAM10	OMIM:615537
HP:0000005	Mode of inheritance	55780	ERMARD	OMIM:615544
HP:0000005	Mode of inheritance	11280	SCN11A	OMIM:615548
HP:0000005	Mode of inheritance	11280	SCN11A	OMIM:615552
HP:0000005	Mode of inheritance	6336	SCN10A	OMIM:615551
HP:0000005	Mode of inheritance	8863	PER3	OMIM:616882
HP:0000005	Mode of inheritance	6138	RPL15	OMIM:615550
HP:0000005	Mode of inheritance	3747	KCNC2	OMIM:619913
HP:0000005	Mode of inheritance	490	ATP2B1	OMIM:619910
HP:0000005	Mode of inheritance	1857	DVL3	OMIM:616894
HP:0000005	Mode of inheritance	9790	BMS1	OMIM:107600
HP:0000005	Mode of inheritance	10558	SPTLC1	OMIM:162400
HP:0000005	Mode of inheritance	4791	NFKB2	OMIM:615577
HP:0000005	Mode of inheritance	5455	POU3F3	OMIM:618604
HP:0000005	Mode of inheritance	81545	FBXO38	OMIM:615575
HP:0000005	Mode of inheritance	4848	CNOT2	OMIM:618608
HP:0000005	Mode of inheritance	4340	MOG	OMIM:614250
HP:0000005	Mode of inheritance	1981	EIF4G1	OMIM:614251
HP:0000005	Mode of inheritance	7043	TGFB3	OMIM:615582
HP:0000005	Mode of inheritance	7043	TGFB3	OMIM:107970
HP:0000005	Mode of inheritance	22827	PUF60	OMIM:615583
HP:0000005	Mode of inheritance	2036	EPB41L1	OMIM:614257
HP:0000005	Mode of inheritance	10369	CACNG2	OMIM:614256
HP:0000005	Mode of inheritance	406932	MIR140	OMIM:618618
HP:0000005	Mode of inheritance	54796	BNC2	OMIM:618612
HP:0000005	Mode of inheritance	58499	ZNF462	OMIM:618619
HP:0000005	Mode of inheritance	3299	HSF4	OMIM:116800
HP:0000005	Mode of inheritance	10194	TSHZ1	OMIM:607842
HP:0000005	Mode of inheritance	23135	KDM6B	OMIM:618505
HP:0000005	Mode of inheritance	6659	SOX4	OMIM:618506
HP:0000005	Mode of inheritance	27022	FOXD3	OMIM:607836
HP:0000005	Mode of inheritance	4653	MYOC	OMIM:137750
HP:0000005	Mode of inheritance	51807	TUBA8	OMIM:619840
HP:0000005	Mode of inheritance	9578	CDC42BPB	OMIM:619841
HP:0000005	Mode of inheritance	80816	ASXL3	OMIM:615485
HP:0000005	Mode of inheritance	56616	DIABLO	OMIM:614152
HP:0000005	Mode of inheritance	10528	NOP56	OMIM:614153
HP:0000005	Mode of inheritance	55904	KMT2E	OMIM:618512
HP:0000005	Mode of inheritance	90	ACVR1	OMIM:135100
HP:0000005	Mode of inheritance	818	CAMK2G	OMIM:618522
HP:0000005	Mode of inheritance	1407	CRY1	OMIM:614163
HP:0000005	Mode of inheritance	64834	ELOVL1	OMIM:618527
HP:0000005	Mode of inheritance	84146	ZNF644	OMIM:614167
HP:0000005	Mode of inheritance	2770	GNAI1	OMIM:619854
HP:0000005	Mode of inheritance	1733	DIO1	OMIM:619855
HP:0000005	Mode of inheritance	5139	PDE3A	OMIM:112410
HP:0000005	Mode of inheritance	8789	FBP2	OMIM:619864
HP:0000005	Mode of inheritance	23327	NEDD4L	OMIM:617201
HP:0000005	Mode of inheritance	10621	POLR3F	OMIM:619872
HP:0000005	Mode of inheritance	26038	CHD5	OMIM:619873
HP:0000005	Mode of inheritance	30813	VSX1	OMIM:614195
HP:0000005	Mode of inheritance	30813	VSX1	OMIM:148300
HP:0000005	Mode of inheritance	56098	PCDHGC4	OMIM:619880
HP:0000005	Mode of inheritance	24145	PANX1	OMIM:618550
HP:0000005	Mode of inheritance	2558	GABRA5	OMIM:618559
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:180550
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:180500
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:137600
HP:0000005	Mode of inheritance	8974	P4HA2	OMIM:617238
HP:0000005	Mode of inheritance	6533	SLC6A6	OMIM:145350
HP:0000005	Mode of inheritance	5881	RAC3	OMIM:618577
HP:0000005	Mode of inheritance	94	ACVRL1	OMIM:600376
HP:0000005	Mode of inheritance	1173	AP2M1	OMIM:618587
HP:0000005	Mode of inheritance	6229	RPS24	OMIM:610629
HP:0000005	Mode of inheritance	123606	NIPA1	OMIM:600363
HP:0000005	Mode of inheritance	153	ADRB1	OMIM:618591
HP:0000005	Mode of inheritance	7707	ZNF148	OMIM:617260
HP:0000005	Mode of inheritance	57520	HECW2	OMIM:617268
HP:0000005	Mode of inheritance	1760	DMPK	OMIM:160900
HP:0000005	Mode of inheritance	64388	GREM2	OMIM:617275
HP:0000005	Mode of inheritance	6530	SLC6A2	OMIM:604715
HP:0000005	Mode of inheritance	551	AVP	OMIM:125700
HP:0000005	Mode of inheritance	7136	TNNI2	OMIM:601680
HP:0000005	Mode of inheritance	4635	MYL4	OMIM:617280
HP:0000005	Mode of inheritance	54949	SDHAF2	OMIM:601650
HP:0000005	Mode of inheritance	23067	SETD1B	OMIM:619000
HP:0000005	Mode of inheritance	2668	GDNF	OMIM:613711
HP:0000005	Mode of inheritance	3785	KCNQ2	OMIM:613720
HP:0000005	Mode of inheritance	3785	KCNQ2	OMIM:121200
HP:0000005	Mode of inheritance	8914	TIMELESS	OMIM:620015
HP:0000005	Mode of inheritance	55294	FBXW7	OMIM:620012
HP:0000005	Mode of inheritance	6662	SOX9	OMIM:114290
HP:0000005	Mode of inheritance	1559	CYP2C9	OMIM:122700
HP:0000005	Mode of inheritance	5921	RASA1	OMIM:608354
HP:0000005	Mode of inheritance	9517	SPTLC2	OMIM:613640
HP:0000005	Mode of inheritance	23314	SATB2	OMIM:612313
HP:0000005	Mode of inheritance	80216	ALPK1	OMIM:614979
HP:0000005	Mode of inheritance	23118	TAB2	OMIM:614980
HP:0000005	Mode of inheritance	3418	IDH2	OMIM:613657
HP:0000005	Mode of inheritance	338567	KCNK18	OMIM:613656
HP:0000005	Mode of inheritance	64419	MTMR14	OMIM:160150
HP:0000005	Mode of inheritance	10472	ZBTB18	OMIM:612337
HP:0000005	Mode of inheritance	4205	MEF2A	OMIM:608320
HP:0000005	Mode of inheritance	27086	FOXP1	OMIM:613670
HP:0000005	Mode of inheritance	10661	KLF1	OMIM:613673
HP:0000005	Mode of inheritance	64321	SOX17	OMIM:613674
HP:0000005	Mode of inheritance	51322	WAC	OMIM:616708
HP:0000005	Mode of inheritance	9455	HOMER2	OMIM:616707
HP:0000005	Mode of inheritance	7546	ZIC2	OMIM:609637
HP:0000005	Mode of inheritance	51142	CHCHD2	OMIM:616710
HP:0000005	Mode of inheritance	144245	ALG10B	OMIM:613688
HP:0000005	Mode of inheritance	3757	KCNH2	OMIM:613688
HP:0000005	Mode of inheritance	3757	KCNH2	OMIM:609620
HP:0000005	Mode of inheritance	3053	SERPIND1	OMIM:612356
HP:0000005	Mode of inheritance	3736	KCNA1	OMIM:160120
HP:0000005	Mode of inheritance	406987	MIR204	OMIM:616722
HP:0000005	Mode of inheritance	23028	KDM1A	OMIM:616728
HP:0000005	Mode of inheritance	3748	KCNC3	OMIM:605259
HP:0000005	Mode of inheritance	998	CDC42	OMIM:616737
HP:0000005	Mode of inheritance	10982	MAPRE2	OMIM:616734
HP:0000005	Mode of inheritance	2122	MECOM	OMIM:616738
HP:0000005	Mode of inheritance	7283	TUBG1	OMIM:615412
HP:0000005	Mode of inheritance	7128	TNFAIP3	OMIM:616744
HP:0000005	Mode of inheritance	340719	NANOS1	OMIM:615413
HP:0000005	Mode of inheritance	3796	KIF2A	OMIM:615411
HP:0000005	Mode of inheritance	56244	BTNL2	OMIM:612387
HP:0000005	Mode of inheritance	201973	PRIMPOL	OMIM:615420
HP:0000005	Mode of inheritance	3178	HNRNPA1	OMIM:615424
HP:0000005	Mode of inheritance	3178	HNRNPA1	OMIM:615426
HP:0000005	Mode of inheritance	3181	HNRNPA2B1	OMIM:615422
HP:0000005	Mode of inheritance	1859	DYRK1A	OMIM:614104
HP:0000005	Mode of inheritance	5592	PRKG1	OMIM:615436
HP:0000005	Mode of inheritance	3060	HCRT	OMIM:161400
HP:0000005	Mode of inheritance	56910	STARD7	OMIM:607876
HP:0000005	Mode of inheritance	56172	ANKH	OMIM:118600
HP:0000005	Mode of inheritance	56172	ANKH	OMIM:123000
HP:0000005	Mode of inheritance	1748	DLX4	OMIM:616788
HP:0000005	Mode of inheritance	23389	MED13L	OMIM:616789
HP:0000005	Mode of inheritance	79875	THSD4	OMIM:619825
HP:0000005	Mode of inheritance	54829	ASPN	OMIM:607850
HP:0000005	Mode of inheritance	8036	SHOC2	OMIM:607721
HP:0000005	Mode of inheritance	3783	KCNN4	OMIM:616689
HP:0000005	Mode of inheritance	6016	RIT1	OMIM:615355
HP:0000005	Mode of inheritance	6938	TCF12	OMIM:619718
HP:0000005	Mode of inheritance	6938	TCF12	OMIM:615314
HP:0000005	Mode of inheritance	7849	PAX8	OMIM:218700
HP:0000005	Mode of inheritance	3020	H3-3A	OMIM:619720
HP:0000005	Mode of inheritance	3021	H3-3B	OMIM:619721
HP:0000005	Mode of inheritance	3029	HAGH	OMIM:614033
HP:0000005	Mode of inheritance	1106	CHD2	OMIM:615369
HP:0000005	Mode of inheritance	3781	KCNN2	OMIM:619724
HP:0000005	Mode of inheritance	3781	KCNN2	OMIM:619725
HP:0000005	Mode of inheritance	63976	PRDM16	OMIM:615373
HP:0000005	Mode of inheritance	6327	SCN2B	OMIM:615378
HP:0000005	Mode of inheritance	7020	TFAP2A	OMIM:113620
HP:0000005	Mode of inheritance	51271	UBAP1	OMIM:618418
HP:0000005	Mode of inheritance	8363	H4C11	OMIM:619759
HP:0000005	Mode of inheritance	8364	H4C3	OMIM:619758
HP:0000005	Mode of inheritance	53335	BCL11A	OMIM:617101
HP:0000005	Mode of inheritance	6942	TCF20	OMIM:618430
HP:0000005	Mode of inheritance	6506	SLC1A2	OMIM:617105
HP:0000005	Mode of inheritance	7140	TNNT3	OMIM:618435
HP:0000005	Mode of inheritance	6117	RPA1	OMIM:619767
HP:0000005	Mode of inheritance	9993	DGCR2	OMIM:192430
HP:0000005	Mode of inheritance	8220	ESS2	OMIM:192430
HP:0000005	Mode of inheritance	8214	DGCR6	OMIM:192430
HP:0000005	Mode of inheritance	54487	DGCR8	OMIM:192430
HP:0000005	Mode of inheritance	54894	RNF43	OMIM:617108
HP:0000005	Mode of inheritance	23162	MAPK8IP3	OMIM:618443
HP:0000005	Mode of inheritance	7867	MAPKAPK3	OMIM:617111
HP:0000005	Mode of inheritance	23219	FBXO28	OMIM:619777
HP:0000005	Mode of inheritance	6330	SCN4B	OMIM:611819
HP:0000005	Mode of inheritance	5083	PAX9	OMIM:604625
HP:0000005	Mode of inheritance	3763	KCNJ6	OMIM:614098
HP:0000005	Mode of inheritance	120766137	HRURF	OMIM:146550
HP:0000005	Mode of inheritance	5062	PAK2	OMIM:618458
HP:0000005	Mode of inheritance	10142	AKAP9	OMIM:611820
HP:0000005	Mode of inheritance	30817	ADGRE2	OMIM:125630
HP:0000005	Mode of inheritance	353116	RILPL1	OMIM:619790
HP:0000005	Mode of inheritance	8402	SLC25A11	OMIM:618464
HP:0000005	Mode of inheritance	1071	CETP	OMIM:143470
HP:0000005	Mode of inheritance	3786	KCNQ3	OMIM:121201
HP:0000005	Mode of inheritance	8462	KLF11	OMIM:610508
HP:0000005	Mode of inheritance	54765	TRIM44	OMIM:617142
HP:0000005	Mode of inheritance	27286	SRPX2	OMIM:300643
HP:0000005	Mode of inheritance	26610	ELP4	OMIM:617141
HP:0000005	Mode of inheritance	6651	SON	OMIM:617140
HP:0000005	Mode of inheritance	1815	DRD4	OMIM:143465
HP:0000005	Mode of inheritance	362	AQP5	OMIM:600231
HP:0000005	Mode of inheritance	2560	GABRB1	OMIM:617153
HP:0000005	Mode of inheritance	1108	CHD4	OMIM:617159
HP:0000005	Mode of inheritance	372	ARCN1	OMIM:617164
HP:0000005	Mode of inheritance	22808	MRAS	OMIM:618499
HP:0000005	Mode of inheritance	2906	GRIN2D	OMIM:617162
HP:0000005	Mode of inheritance	4015	LOX	OMIM:617168
HP:0000005	Mode of inheritance	54538	ROBO4	OMIM:618496
HP:0000005	Mode of inheritance	2257	FGF12	OMIM:617166
HP:0000005	Mode of inheritance	2192	FBLN1	OMIM:608180
HP:0000005	Mode of inheritance	9343	EFTUD2	OMIM:610536
HP:0000005	Mode of inheritance	1415	CRYBB2	OMIM:601547
HP:0000005	Mode of inheritance	716	C1S	OMIM:617174
HP:0000005	Mode of inheritance	57514	ARHGAP31	OMIM:100300
HP:0000005	Mode of inheritance	6154	RPL26	OMIM:614900
HP:0000005	Mode of inheritance	783	CACNB2	OMIM:611876
HP:0000005	Mode of inheritance	55252	ASXL2	OMIM:617190
HP:0000005	Mode of inheritance	283	ANG	OMIM:611895
HP:0000005	Mode of inheritance	6041	RNASEL	OMIM:601518
HP:0000005	Mode of inheritance	8996	NOL3	OMIM:614937
HP:0000005	Mode of inheritance	10299	MARCHF6	OMIM:613608
HP:0000005	Mode of inheritance	146227	BEAN1	OMIM:117210
HP:0000005	Mode of inheritance	124404	SEPTIN12	OMIM:614822
HP:0000005	Mode of inheritance	50940	PDE11A	OMIM:610475
HP:0000005	Mode of inheritance	26012	NSMF	OMIM:614838
HP:0000005	Mode of inheritance	56262	LRRC8A	OMIM:613506
HP:0000005	Mode of inheritance	57492	ARID1B	OMIM:135900
HP:0000005	Mode of inheritance	9639	ARHGEF10	OMIM:608236
HP:0000005	Mode of inheritance	7187	TRAF3	OMIM:614849
HP:0000005	Mode of inheritance	22953	P2RX2	OMIM:608224
HP:0000005	Mode of inheritance	4069	LYZ	OMIM:105200
HP:0000005	Mode of inheritance	4306	NR3C2	OMIM:177735
HP:0000005	Mode of inheritance	4306	NR3C2	OMIM:605115
HP:0000005	Mode of inheritance	9568	GABBR2	OMIM:617903
HP:0000005	Mode of inheritance	9568	GABBR2	OMIM:617904
HP:0000005	Mode of inheritance	9180	OSMR	OMIM:105250
HP:0000005	Mode of inheritance	9394	HS6ST1	OMIM:614880
HP:0000005	Mode of inheritance	10371	SEMA3A	OMIM:614897
HP:0000005	Mode of inheritance	113457	TUBA3D	OMIM:617928
HP:0000005	Mode of inheritance	8729	GBF1	OMIM:606483
HP:0000005	Mode of inheritance	3741	KCNA5	OMIM:612240
HP:0000005	Mode of inheritance	6328	SCN3A	OMIM:617935
HP:0000005	Mode of inheritance	6328	SCN3A	OMIM:617938
HP:0000005	Mode of inheritance	6710	SPTB	OMIM:617948
HP:0000005	Mode of inheritance	6710	SPTB	OMIM:616649
HP:0000005	Mode of inheritance	4297	KMT2A	OMIM:605130
HP:0000005	Mode of inheritance	3047	HBG1	OMIM:141749
HP:0000005	Mode of inheritance	3566	IL4R	OMIM:147050
HP:0000005	Mode of inheritance	2206	MS4A2	OMIM:147050
HP:0000005	Mode of inheritance	2978	GUCA1A	OMIM:602093
HP:0000005	Mode of inheritance	3791	KDR	OMIM:602089
HP:0000005	Mode of inheritance	7066	THPO	OMIM:187950
HP:0000005	Mode of inheritance	1508	CTSB	OMIM:148370
HP:0000005	Mode of inheritance	54664	TMEM106B	OMIM:617964
HP:0000005	Mode of inheritance	2224	FDPS	OMIM:616631
HP:0000005	Mode of inheritance	93986	FOXP2	OMIM:602081
HP:0000005	Mode of inheritance	57338	JPH3	OMIM:606438
HP:0000005	Mode of inheritance	9368	NHERF1	OMIM:612287
HP:0000005	Mode of inheritance	29957	SLC25A24	OMIM:612289
HP:0000005	Mode of inheritance	51305	KCNK9	OMIM:612292
HP:0000005	Mode of inheritance	54870	QRICH1	OMIM:617982
HP:0000005	Mode of inheritance	23509	POFUT1	OMIM:615327
HP:0000005	Mode of inheritance	55023	PHIP	OMIM:617991
HP:0000005	Mode of inheritance	6915	TBXA2R	OMIM:614009
HP:0000005	Mode of inheritance	136371	ASB10	OMIM:603383
HP:0000005	Mode of inheritance	3777	KCNK3	OMIM:615344
HP:0000005	Mode of inheritance	6688	SPI1	OMIM:619707
HP:0000005	Mode of inheritance	64170	CARD9	OMIM:212050
HP:0000005	Mode of inheritance	2673	GFPT1	OMIM:608931
HP:0000005	Mode of inheritance	2673	GFPT1	OMIM:610542
HP:0000005	Mode of inheritance	1145	CHRNE	OMIM:608931
HP:0000005	Mode of inheritance	1145	CHRNE	OMIM:605809
HP:0000005	Mode of inheritance	1145	CHRNE	OMIM:616324
HP:0000005	Mode of inheritance	51256	TBC1D7	OMIM:248000
HP:0000005	Mode of inheritance	28981	IFT81	OMIM:617895
HP:0000005	Mode of inheritance	583	BBS2	OMIM:616562
HP:0000005	Mode of inheritance	583	BBS2	OMIM:615981
HP:0000005	Mode of inheritance	51569	UFM1	OMIM:617899
HP:0000005	Mode of inheritance	79827	CLMP	OMIM:615237
HP:0000005	Mode of inheritance	134701	RIPPLY2	OMIM:616566
HP:0000005	Mode of inheritance	7299	TYR	OMIM:203100
HP:0000005	Mode of inheritance	7299	TYR	OMIM:606952
HP:0000005	Mode of inheritance	63924	CIDEC	OMIM:615238
HP:0000005	Mode of inheritance	6890	TAP1	OMIM:604571
HP:0000005	Mode of inheritance	6891	TAP2	OMIM:604571
HP:0000005	Mode of inheritance	6892	TAPBP	OMIM:604571
HP:0000005	Mode of inheritance	7068	THRB	OMIM:274300
HP:0000005	Mode of inheritance	1134	CHRNA1	OMIM:608930
HP:0000005	Mode of inheritance	1134	CHRNA1	OMIM:253290
HP:0000005	Mode of inheritance	51099	ABHD5	OMIM:275630
HP:0000005	Mode of inheritance	2731	GLDC	OMIM:605899
HP:0000005	Mode of inheritance	275	AMT	OMIM:605899
HP:0000005	Mode of inheritance	54714	CNGB3	OMIM:262300
HP:0000005	Mode of inheritance	2073	ERCC5	OMIM:616570
HP:0000005	Mode of inheritance	2073	ERCC5	OMIM:278780
HP:0000005	Mode of inheritance	396	ARHGDIA	OMIM:615244
HP:0000005	Mode of inheritance	166378	AFG2A	OMIM:616577
HP:0000005	Mode of inheritance	146845	CFAP52	OMIM:619607
HP:0000005	Mode of inheritance	25790	CFAP45	OMIM:619608
HP:0000005	Mode of inheritance	84197	POMK	OMIM:615249
HP:0000005	Mode of inheritance	84197	POMK	OMIM:616094
HP:0000005	Mode of inheritance	84520	GON7	OMIM:619603
HP:0000005	Mode of inheritance	81846	SBF2	OMIM:604563
HP:0000005	Mode of inheritance	1161	ERCC8	OMIM:216400
HP:0000005	Mode of inheritance	1161	ERCC8	OMIM:614621
HP:0000005	Mode of inheritance	79693	YRDC	OMIM:619609
HP:0000005	Mode of inheritance	1369	CPN1	OMIM:212070
HP:0000005	Mode of inheritance	79029	AFG2B	OMIM:619616
HP:0000005	Mode of inheritance	79029	AFG2B	OMIM:619615
HP:0000005	Mode of inheritance	7436	VLDLR	OMIM:224050
HP:0000005	Mode of inheritance	80201	HKDC1	OMIM:619614
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:215100
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:266500
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:614879
HP:0000005	Mode of inheritance	200942	KLHDC8B	OMIM:236000
HP:0000005	Mode of inheritance	1565	CYP2D6	OMIM:608902
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:619621
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:616531
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:619708
HP:0000005	Mode of inheritance	54756	IL17RD	OMIM:615267
HP:0000005	Mode of inheritance	51761	ATP8A2	OMIM:615268
HP:0000005	Mode of inheritance	51702	PADI3	OMIM:191480
HP:0000005	Mode of inheritance	4247	MGAT2	OMIM:212066
HP:0000005	Mode of inheritance	5373	PMM2	OMIM:212065
HP:0000005	Mode of inheritance	5337	PLD1	OMIM:212093
HP:0000005	Mode of inheritance	5317	PKP1	OMIM:604536
HP:0000005	Mode of inheritance	167691	LCA5	OMIM:604537
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:615272
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:610965
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:278760
HP:0000005	Mode of inheritance	30009	TBX21	OMIM:619630
HP:0000005	Mode of inheritance	30009	TBX21	OMIM:208550
HP:0000005	Mode of inheritance	55768	NGLY1	OMIM:615273
HP:0000005	Mode of inheritance	1770	DNAH9	OMIM:618300
HP:0000005	Mode of inheritance	29775	CARD10	OMIM:619632
HP:0000005	Mode of inheritance	55621	TRMT1	OMIM:618302
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:241410
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:244460
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:617207
HP:0000005	Mode of inheritance	3982	LIM2	OMIM:615277
HP:0000005	Mode of inheritance	5593	PRKG2	OMIM:619638
HP:0000005	Mode of inheritance	5593	PRKG2	OMIM:619636
HP:0000005	Mode of inheritance	399	RHOH	OMIM:618307
HP:0000005	Mode of inheritance	9354	UBE4A	OMIM:619639
HP:0000005	Mode of inheritance	3574	IL7	OMIM:618309
HP:0000005	Mode of inheritance	55823	VPS11	OMIM:619637
HP:0000005	Mode of inheritance	55823	VPS11	OMIM:616683
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253400
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253300
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:271150
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253550
HP:0000005	Mode of inheritance	6607	SMN2	OMIM:253400
HP:0000005	Mode of inheritance	3507	IGHM	OMIM:601495
HP:0000005	Mode of inheritance	54828	BCAS3	OMIM:619641
HP:0000005	Mode of inheritance	6305	SBF1	OMIM:615284
HP:0000005	Mode of inheritance	1615	DARS1	OMIM:615281
HP:0000005	Mode of inheritance	431705	ASTL	OMIM:619643
HP:0000005	Mode of inheritance	57169	ZNFX1	OMIM:619644
HP:0000005	Mode of inheritance	11041	B4GAT1	OMIM:615287
HP:0000005	Mode of inheritance	11311	VPS45	OMIM:615285
HP:0000005	Mode of inheritance	113179	ADAT3	OMIM:615286
HP:0000005	Mode of inheritance	145645	TERB2	OMIM:619645
HP:0000005	Mode of inheritance	283847	TERB1	OMIM:619646
HP:0000005	Mode of inheritance	111	ADCY5	OMIM:619647
HP:0000005	Mode of inheritance	111	ADCY5	OMIM:619651
HP:0000005	Mode of inheritance	9772	TMEM94	OMIM:618316
HP:0000005	Mode of inheritance	79971	WLS	OMIM:619648
HP:0000005	Mode of inheritance	57462	MYORG	OMIM:618317
HP:0000005	Mode of inheritance	29958	DMGDH	OMIM:605850
HP:0000005	Mode of inheritance	56652	TWNK	OMIM:271245
HP:0000005	Mode of inheritance	56652	TWNK	OMIM:607459
HP:0000005	Mode of inheritance	56652	TWNK	OMIM:616138
HP:0000005	Mode of inheritance	3373	HYAL1	OMIM:601492
HP:0000005	Mode of inheritance	1491	CTH	OMIM:219500
HP:0000005	Mode of inheritance	92749	DRC1	OMIM:615294
HP:0000005	Mode of inheritance	92749	DRC1	OMIM:620222
HP:0000005	Mode of inheritance	55739	NAXD	OMIM:618321
HP:0000005	Mode of inheritance	5966	REL	OMIM:619652
HP:0000005	Mode of inheritance	7143	TNR	OMIM:619653
HP:0000005	Mode of inheritance	6843	VAMP1	OMIM:618323
HP:0000005	Mode of inheritance	197258	FCSK	OMIM:618324
HP:0000005	Mode of inheritance	2694	CBLIF	OMIM:261000
HP:0000005	Mode of inheritance	285203	EOGT	OMIM:615297
HP:0000005	Mode of inheritance	125988	MICOS13	OMIM:618329
HP:0000005	Mode of inheritance	84168	ANTXR1	OMIM:230740
HP:0000005	Mode of inheritance	4087	SMAD2	OMIM:619657
HP:0000005	Mode of inheritance	54532	USP53	OMIM:619658
HP:0000005	Mode of inheritance	2744	GLS	OMIM:618328
HP:0000005	Mode of inheritance	2744	GLS	OMIM:618412
HP:0000005	Mode of inheritance	2055	CLN8	OMIM:600143
HP:0000005	Mode of inheritance	2055	CLN8	OMIM:610003
HP:0000005	Mode of inheritance	23514	SPIDR	OMIM:619665
HP:0000005	Mode of inheritance	54101	RIPK4	OMIM:263650
HP:0000005	Mode of inheritance	54101	RIPK4	OMIM:214350
HP:0000005	Mode of inheritance	51693	TRAPPC2L	OMIM:618331
HP:0000005	Mode of inheritance	113220	KIF12	OMIM:619662
HP:0000005	Mode of inheritance	120	ADD3	OMIM:617008
HP:0000005	Mode of inheritance	7535	ZAP70	OMIM:617006
HP:0000005	Mode of inheritance	7535	ZAP70	OMIM:269840
HP:0000005	Mode of inheritance	5426	POLE	OMIM:618336
HP:0000005	Mode of inheritance	5426	POLE	OMIM:615139
HP:0000005	Mode of inheritance	64132	XYLT2	OMIM:605822
HP:0000005	Mode of inheritance	64132	XYLT2	OMIM:264800
HP:0000005	Mode of inheritance	7287	TULP1	OMIM:600132
HP:0000005	Mode of inheritance	7287	TULP1	OMIM:613843
HP:0000005	Mode of inheritance	10020	GNE	OMIM:605820
HP:0000005	Mode of inheritance	6448	SGSH	OMIM:252900
HP:0000005	Mode of inheritance	8925	HERC1	OMIM:617011
HP:0000005	Mode of inheritance	1281	COL3A1	OMIM:618343
HP:0000005	Mode of inheritance	196	AHR	OMIM:618345
HP:0000005	Mode of inheritance	10785	WDR4	OMIM:618346
HP:0000005	Mode of inheritance	10785	WDR4	OMIM:618347
HP:0000005	Mode of inheritance	1441	CSF3R	OMIM:617014
HP:0000005	Mode of inheritance	23516	SLC39A14	OMIM:617013
HP:0000005	Mode of inheritance	84074	QRICH2	OMIM:618341
HP:0000005	Mode of inheritance	10734	STAG3	OMIM:619672
HP:0000005	Mode of inheritance	10734	STAG3	OMIM:615723
HP:0000005	Mode of inheritance	285498	RNF212	OMIM:619673
HP:0000005	Mode of inheritance	54517	PUS7	OMIM:618342
HP:0000005	Mode of inheritance	10564	ARFGEF2	OMIM:608097
HP:0000005	Mode of inheritance	4311	MME	OMIM:617017
HP:0000005	Mode of inheritance	5396	PRRX1	OMIM:202650
HP:0000005	Mode of inheritance	1798	DPAGT1	OMIM:608093
HP:0000005	Mode of inheritance	1798	DPAGT1	OMIM:614750
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:618348
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:618078
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:616730
HP:0000005	Mode of inheritance	55746	NUP133	OMIM:618349
HP:0000005	Mode of inheritance	55746	NUP133	OMIM:618177
HP:0000005	Mode of inheritance	51259	TMEM216	OMIM:608091
HP:0000005	Mode of inheritance	51259	TMEM216	OMIM:603194
HP:0000005	Mode of inheritance	56623	INPP5E	OMIM:213300
HP:0000005	Mode of inheritance	56623	INPP5E	OMIM:610156
HP:0000005	Mode of inheritance	4023	LPL	OMIM:238600
HP:0000005	Mode of inheritance	1950	EGF	OMIM:611718
HP:0000005	Mode of inheritance	6442	SGCA	OMIM:608099
HP:0000005	Mode of inheritance	56945	MRPS22	OMIM:611719
HP:0000005	Mode of inheritance	56945	MRPS22	OMIM:618117
HP:0000005	Mode of inheritance	10165	SLC25A13	OMIM:605814
HP:0000005	Mode of inheritance	10165	SLC25A13	OMIM:603471
HP:0000005	Mode of inheritance	55315	SLC29A3	OMIM:602782
HP:0000005	Mode of inheritance	8540	AGPS	OMIM:600121
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:601457
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:233650
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:603554
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:601457
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:233650
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:603554
HP:0000005	Mode of inheritance	10397	NDRG1	OMIM:601455
HP:0000005	Mode of inheritance	55610	VPS50	OMIM:619685
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:226600
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:131850
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:131705
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:604129
HP:0000005	Mode of inheritance	4312	MMP1	OMIM:226600
HP:0000005	Mode of inheritance	81790	RNF170	OMIM:619686
HP:0000005	Mode of inheritance	23395	LARS2	OMIM:617021
HP:0000005	Mode of inheritance	23395	LARS2	OMIM:615300
HP:0000005	Mode of inheritance	23114	NFASC	OMIM:618356
HP:0000005	Mode of inheritance	64801	ARV1	OMIM:617020
HP:0000005	Mode of inheritance	55182	RNF220	OMIM:619688
HP:0000005	Mode of inheritance	116461	TSEN15	OMIM:617026
HP:0000005	Mode of inheritance	55262	TRAPPC14	OMIM:618351
HP:0000005	Mode of inheritance	7783	ZP2	OMIM:618353
HP:0000005	Mode of inheritance	60509	AGBL5	OMIM:617023
HP:0000005	Mode of inheritance	23043	TNIK	OMIM:617028
HP:0000005	Mode of inheritance	140801	RPL10L	OMIM:619689
HP:0000005	Mode of inheritance	11190	CEP250	OMIM:618358
HP:0000005	Mode of inheritance	5660	PSAP	OMIM:611721
HP:0000005	Mode of inheritance	5660	PSAP	OMIM:611722
HP:0000005	Mode of inheritance	5660	PSAP	OMIM:249900
HP:0000005	Mode of inheritance	5660	PSAP	OMIM:610539
HP:0000005	Mode of inheritance	154881	KCTD7	OMIM:611726
HP:0000005	Mode of inheritance	346007	EYS	OMIM:602772
HP:0000005	Mode of inheritance	5934	RBL2	OMIM:619690
HP:0000005	Mode of inheritance	57190	SELENON	OMIM:602771
HP:0000005	Mode of inheritance	79709	COLGALT1	OMIM:618360
HP:0000005	Mode of inheritance	16	AARS1	OMIM:619691
HP:0000005	Mode of inheritance	16	AARS1	OMIM:616339
HP:0000005	Mode of inheritance	286151	FBXO43	OMIM:619696
HP:0000005	Mode of inheritance	286151	FBXO43	OMIM:619697
HP:0000005	Mode of inheritance	153642	ARSK	OMIM:619698
HP:0000005	Mode of inheritance	10588	MTHFS	OMIM:618367
HP:0000005	Mode of inheritance	22930	RAB3GAP1	OMIM:600118
HP:0000005	Mode of inheritance	22930	RAB3GAP1	OMIM:619420
HP:0000005	Mode of inheritance	51434	ANAPC7	OMIM:619699
HP:0000005	Mode of inheritance	122622	ADSS1	OMIM:617030
HP:0000005	Mode of inheritance	4141	MARS1	OMIM:619692
HP:0000005	Mode of inheritance	4141	MARS1	OMIM:615486
HP:0000005	Mode of inheritance	7922	SLC39A7	OMIM:619693
HP:0000005	Mode of inheritance	84068	SLC10A7	OMIM:618363
HP:0000005	Mode of inheritance	3643	INSR	OMIM:246200
HP:0000005	Mode of inheritance	3643	INSR	OMIM:262190
HP:0000005	Mode of inheritance	6718	AKR1D1	OMIM:235555
HP:0000005	Mode of inheritance	54834	GDAP2	OMIM:618369
HP:0000005	Mode of inheritance	4625	MYH7	OMIM:255160
HP:0000005	Mode of inheritance	3431	SP110	OMIM:235550
HP:0000005	Mode of inheritance	4647	MYO7A	OMIM:276900
HP:0000005	Mode of inheritance	4647	MYO7A	OMIM:600060
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:276900
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:276904
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:602092
HP:0000005	Mode of inheritance	7399	USH2A	OMIM:276901
HP:0000005	Mode of inheritance	7399	USH2A	OMIM:613809
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:276901
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:618003
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:605472
HP:0000005	Mode of inheritance	23418	CRB1	OMIM:600105
HP:0000005	Mode of inheritance	23418	CRB1	OMIM:613835
HP:0000005	Mode of inheritance	7086	TKT	OMIM:617044
HP:0000005	Mode of inheritance	63931	MRPS14	OMIM:618378
HP:0000005	Mode of inheritance	5321	PLA2G4A	OMIM:618372
HP:0000005	Mode of inheritance	23328	SASH1	OMIM:618373
HP:0000005	Mode of inheritance	10667	FARS2	OMIM:617046
HP:0000005	Mode of inheritance	10667	FARS2	OMIM:614946
HP:0000005	Mode of inheritance	9971	NR1H4	OMIM:617049
HP:0000005	Mode of inheritance	9294	S1PR2	OMIM:610419
HP:0000005	Mode of inheritance	3674	ITGA2B	OMIM:273800
HP:0000005	Mode of inheritance	83480	PUS3	OMIM:617051
HP:0000005	Mode of inheritance	8943	AP3D1	OMIM:617050
HP:0000005	Mode of inheritance	83959	SLC4A11	OMIM:217700
HP:0000005	Mode of inheritance	83959	SLC4A11	OMIM:217400
HP:0000005	Mode of inheritance	65260	COA7	OMIM:618387
HP:0000005	Mode of inheritance	55975	KLHL7	OMIM:617055
HP:0000005	Mode of inheritance	55697	VAC14	OMIM:617054
HP:0000005	Mode of inheritance	5913	RAPSN	OMIM:618388
HP:0000005	Mode of inheritance	5913	RAPSN	OMIM:616326
HP:0000005	Mode of inheritance	1053	CEBPE	OMIM:260570
HP:0000005	Mode of inheritance	1053	CEBPE	OMIM:245480
HP:0000005	Mode of inheritance	285489	DOK7	OMIM:618389
HP:0000005	Mode of inheritance	285489	DOK7	OMIM:254300
HP:0000005	Mode of inheritance	134218	DNAJC21	OMIM:617052
HP:0000005	Mode of inheritance	134218	DNAJC21	OMIM:260400
HP:0000005	Mode of inheritance	3914	LAMB3	OMIM:226650
HP:0000005	Mode of inheritance	3914	LAMB3	OMIM:226700
HP:0000005	Mode of inheritance	27107	ZBTB11	OMIM:618383
HP:0000005	Mode of inheritance	64849	SLC13A3	OMIM:618384
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:225320
HP:0000005	Mode of inheritance	84957	RELT	OMIM:618386
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:611755
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:615991
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:610188
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:610189
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:611134
HP:0000005	Mode of inheritance	57010	CABP4	OMIM:610427
HP:0000005	Mode of inheritance	162417	NAGS	OMIM:237310
HP:0000005	Mode of inheritance	8720	MBTPS1	OMIM:618392
HP:0000005	Mode of inheritance	4927	NUP88	OMIM:618393
HP:0000005	Mode of inheritance	9325	TRIP4	OMIM:617066
HP:0000005	Mode of inheritance	9325	TRIP4	OMIM:616866
HP:0000005	Mode of inheritance	84868	HAVCR2	OMIM:618398
HP:0000005	Mode of inheritance	60558	GUF1	OMIM:617065
HP:0000005	Mode of inheritance	8318	CDC45	OMIM:617063
HP:0000005	Mode of inheritance	9326	ZNHIT3	OMIM:260565
HP:0000005	Mode of inheritance	23233	EXOC6B	OMIM:618395
HP:0000005	Mode of inheritance	7084	TK2	OMIM:617069
HP:0000005	Mode of inheritance	7084	TK2	OMIM:609560
HP:0000005	Mode of inheritance	1674	DES	OMIM:601419
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:617068
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:617070
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:251880
HP:0000005	Mode of inheritance	84340	GFM2	OMIM:618397
HP:0000005	Mode of inheritance	2799	GNS	OMIM:252940
HP:0000005	Mode of inheritance	26092	TOR1AIP1	OMIM:617072
HP:0000005	Mode of inheritance	2203	FBP1	OMIM:229700
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:226670
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:612138
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:616487
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:226730
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:613723
HP:0000005	Mode of inheritance	51594	NBAS	OMIM:614800
HP:0000005	Mode of inheritance	51594	NBAS	OMIM:616483
HP:0000005	Mode of inheritance	54187	NANS	OMIM:610442
HP:0000005	Mode of inheritance	138050	HGSNAT	OMIM:252930
HP:0000005	Mode of inheritance	138050	HGSNAT	OMIM:616544
HP:0000005	Mode of inheritance	50617	ATP6V0A4	OMIM:602722
HP:0000005	Mode of inheritance	116150	NUS1	OMIM:617082
HP:0000005	Mode of inheritance	51626	DYNC2LI1	OMIM:617088
HP:0000005	Mode of inheritance	56947	MFF	OMIM:617086
HP:0000005	Mode of inheritance	1291	COL6A1	OMIM:158810
HP:0000005	Mode of inheritance	1291	COL6A1	OMIM:254090
HP:0000005	Mode of inheritance	1292	COL6A2	OMIM:158810
HP:0000005	Mode of inheritance	1292	COL6A2	OMIM:254090
HP:0000005	Mode of inheritance	1292	COL6A2	OMIM:255600
HP:0000005	Mode of inheritance	1293	COL6A3	OMIM:158810
HP:0000005	Mode of inheritance	1293	COL6A3	OMIM:616411
HP:0000005	Mode of inheritance	1293	COL6A3	OMIM:254090
HP:0000005	Mode of inheritance	54809	SAMD9	OMIM:610455
HP:0000005	Mode of inheritance	26123	TCTN3	OMIM:614815
HP:0000005	Mode of inheritance	26123	TCTN3	OMIM:258860
HP:0000005	Mode of inheritance	27445	PCLO	OMIM:608027
HP:0000005	Mode of inheritance	1373	CPS1	OMIM:237300
HP:0000005	Mode of inheritance	4669	NAGLU	OMIM:252920
HP:0000005	Mode of inheritance	25886	POC1A	OMIM:614813
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:614819
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:600975
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:251750
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:613086
HP:0000005	Mode of inheritance	22909	FAN1	OMIM:614817
HP:0000005	Mode of inheritance	168667	BMPER	OMIM:608022
HP:0000005	Mode of inheritance	64374	SIL1	OMIM:248800
HP:0000005	Mode of inheritance	2643	GCH1	OMIM:128230
HP:0000005	Mode of inheritance	2643	GCH1	OMIM:233910
HP:0000005	Mode of inheritance	26128	KIFBP	OMIM:609460
HP:0000005	Mode of inheritance	80308	FLAD1	OMIM:255100
HP:0000005	Mode of inheritance	25821	MTO1	OMIM:614702
HP:0000005	Mode of inheritance	987	LRBA	OMIM:614700
HP:0000005	Mode of inheritance	2896	GRN	OMIM:614706
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:608133
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:136880
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:609465
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:271640
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:615349
HP:0000005	Mode of inheritance	79581	SLC52A2	OMIM:614707
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:268400
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:218600
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:266280
HP:0000005	Mode of inheritance	89910	UBE3B	OMIM:244450
HP:0000005	Mode of inheritance	55788	LMBRD1	OMIM:277380
HP:0000005	Mode of inheritance	169522	KCNV2	OMIM:610356
HP:0000005	Mode of inheritance	54476	RNF216	OMIM:212840
HP:0000005	Mode of inheritance	547	KIF1A	OMIM:610357
HP:0000005	Mode of inheritance	547	KIF1A	OMIM:201300
HP:0000005	Mode of inheritance	547	KIF1A	OMIM:614213
HP:0000005	Mode of inheritance	771	CA12	OMIM:143860
HP:0000005	Mode of inheritance	336	APOA2	OMIM:143890
HP:0000005	Mode of inheritance	2053	EPHX2	OMIM:143890
HP:0000005	Mode of inheritance	10842	PPP1R17	OMIM:143890
HP:0000005	Mode of inheritance	2690	GHR	OMIM:143890
HP:0000005	Mode of inheritance	2690	GHR	OMIM:262500
HP:0000005	Mode of inheritance	3949	LDLR	OMIM:143890
HP:0000005	Mode of inheritance	353	APRT	OMIM:614723
HP:0000005	Mode of inheritance	8942	KYNU	OMIM:236800
HP:0000005	Mode of inheritance	8942	KYNU	OMIM:617661
HP:0000005	Mode of inheritance	55858	TMEM165	OMIM:614727
HP:0000005	Mode of inheritance	80254	CEP63	OMIM:614728
HP:0000005	Mode of inheritance	64087	MCCC2	OMIM:210210
HP:0000005	Mode of inheritance	658	BMPR1B	OMIM:609441
HP:0000005	Mode of inheritance	10518	CIB2	OMIM:609439
HP:0000005	Mode of inheritance	10518	CIB2	OMIM:614869
HP:0000005	Mode of inheritance	7374	UNG	OMIM:608106
HP:0000005	Mode of inheritance	50674	NEUROG3	OMIM:610370
HP:0000005	Mode of inheritance	1591	CYP24A1	OMIM:143880
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:613402
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:616267
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:605589
HP:0000005	Mode of inheritance	4598	MVK	OMIM:610377
HP:0000005	Mode of inheritance	4598	MVK	OMIM:260920
HP:0000005	Mode of inheritance	56922	MCCC1	OMIM:210200
HP:0000005	Mode of inheritance	63894	VIPAS39	OMIM:613404
HP:0000005	Mode of inheritance	79053	ALG8	OMIM:608104
HP:0000005	Mode of inheritance	84947	SERAC1	OMIM:614739
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:608105
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:605021
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:614617
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:220500
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:615338
HP:0000005	Mode of inheritance	23530	NNT	OMIM:614736
HP:0000005	Mode of inheritance	113278	SLC52A3	OMIM:211530
HP:0000005	Mode of inheritance	113278	SLC52A3	OMIM:211500
HP:0000005	Mode of inheritance	727857	BHLHA9	OMIM:609432
HP:0000005	Mode of inheritance	727857	BHLHA9	OMIM:607539
HP:0000005	Mode of inheritance	57217	TTC7A	OMIM:243150
HP:0000005	Mode of inheritance	51660	MPC1	OMIM:614741
HP:0000005	Mode of inheritance	6011	GRK1	OMIM:613411
HP:0000005	Mode of inheritance	3211	HOXB1	OMIM:614744
HP:0000005	Mode of inheritance	84720	PIGO	OMIM:614749
HP:0000005	Mode of inheritance	11128	POLR3A	OMIM:264090
HP:0000005	Mode of inheritance	11128	POLR3A	OMIM:607694
HP:0000005	Mode of inheritance	3675	ITGA3	OMIM:614748
HP:0000005	Mode of inheritance	80025	PANK2	OMIM:234200
HP:0000005	Mode of inheritance	80025	PANK2	OMIM:607236
HP:0000005	Mode of inheritance	23503	ZFYVE26	OMIM:270700
HP:0000005	Mode of inheritance	388939	PCARE	OMIM:613428
HP:0000005	Mode of inheritance	5241	PGR	OMIM:264080
HP:0000005	Mode of inheritance	5092	PCBD1	OMIM:264070
HP:0000005	Mode of inheritance	1374	CPT1A	OMIM:255120
HP:0000005	Mode of inheritance	10133	OPTN	OMIM:613435
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:256450
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:618857
HP:0000005	Mode of inheritance	3166	HMX1	OMIM:612109
HP:0000005	Mode of inheritance	147372	CCBE1	OMIM:235510
HP:0000005	Mode of inheritance	23479	ISCU	OMIM:255125
HP:0000005	Mode of inheritance	54463	RETREG1	OMIM:201300
HP:0000005	Mode of inheritance	54463	RETREG1	OMIM:613115
HP:0000005	Mode of inheritance	65125	WNK1	OMIM:201300
HP:0000005	Mode of inheritance	6335	SCN9A	OMIM:201300
HP:0000005	Mode of inheritance	6335	SCN9A	OMIM:243000
HP:0000005	Mode of inheritance	9276	COPB2	OMIM:617800
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:255110
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:608836
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:600649
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:614212
HP:0000005	Mode of inheritance	220136	CFAP53	OMIM:614779
HP:0000005	Mode of inheritance	7407	VARS1	OMIM:617802
HP:0000005	Mode of inheritance	11181	TREH	OMIM:612119
HP:0000005	Mode of inheritance	3559	IL2RA	OMIM:606367
HP:0000005	Mode of inheritance	55703	POLR3B	OMIM:607694
HP:0000005	Mode of inheritance	55703	POLR3B	OMIM:614381
HP:0000005	Mode of inheritance	60529	ALX4	OMIM:613451
HP:0000005	Mode of inheritance	5269	SERPINB6	OMIM:613453
HP:0000005	Mode of inheritance	4688	NCF2	OMIM:233710
HP:0000005	Mode of inheritance	8733	GPAA1	OMIM:617810
HP:0000005	Mode of inheritance	8092	ALX1	OMIM:613456
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:606353
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:205100
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:607225
HP:0000005	Mode of inheritance	5279	PIGC	OMIM:617816
HP:0000005	Mode of inheritance	5745	PTH1R	OMIM:215045
HP:0000005	Mode of inheritance	5745	PTH1R	OMIM:600002
HP:0000005	Mode of inheritance	27329	ANGPTL3	OMIM:605019
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:216360
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:615991
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:607361
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:602152
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:610688
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:613550
HP:0000005	Mode of inheritance	84162	BLTP1	OMIM:617822
HP:0000005	Mode of inheritance	123016	TTC8	OMIM:613464
HP:0000005	Mode of inheritance	123016	TTC8	OMIM:615985
HP:0000005	Mode of inheritance	1806	DPYD	OMIM:274270
HP:0000005	Mode of inheritance	2902	GRIN1	OMIM:617820
HP:0000005	Mode of inheritance	2902	GRIN1	OMIM:619814
HP:0000005	Mode of inheritance	10587	TXNRD2	OMIM:617825
HP:0000005	Mode of inheritance	54820	NDE1	OMIM:605013
HP:0000005	Mode of inheritance	54820	NDE1	OMIM:614019
HP:0000005	Mode of inheritance	51135	IRAK4	OMIM:607676
HP:0000005	Mode of inheritance	9837	GINS1	OMIM:617827
HP:0000005	Mode of inheritance	10683	DLL3	OMIM:277300
HP:0000005	Mode of inheritance	145873	MESP2	OMIM:277300
HP:0000005	Mode of inheritance	145873	MESP2	OMIM:608681
HP:0000005	Mode of inheritance	2733	GLE1	OMIM:253310
HP:0000005	Mode of inheritance	2733	GLE1	OMIM:611890
HP:0000005	Mode of inheritance	2821	GPI	OMIM:613470
HP:0000005	Mode of inheritance	128338	DRAM2	OMIM:616502
HP:0000005	Mode of inheritance	10560	SLC19A2	OMIM:249270
HP:0000005	Mode of inheritance	388753	COA6	OMIM:616501
HP:0000005	Mode of inheritance	493753	COA5	OMIM:616500
HP:0000005	Mode of inheritance	91137	SLC25A46	OMIM:616505
HP:0000005	Mode of inheritance	91137	SLC25A46	OMIM:619303
HP:0000005	Mode of inheritance	57211	ADGRG6	OMIM:616503
HP:0000005	Mode of inheritance	4047	LSS	OMIM:616509
HP:0000005	Mode of inheritance	4047	LSS	OMIM:618275
HP:0000005	Mode of inheritance	4047	LSS	OMIM:618840
HP:0000005	Mode of inheritance	6678	SPARC	OMIM:616507
HP:0000005	Mode of inheritance	3784	KCNQ1	OMIM:220400
HP:0000005	Mode of inheritance	4982	TNFRSF11B	OMIM:239000
HP:0000005	Mode of inheritance	2632	GBE1	OMIM:263570
HP:0000005	Mode of inheritance	2632	GBE1	OMIM:232500
HP:0000005	Mode of inheritance	11315	PARK7	OMIM:606324
HP:0000005	Mode of inheritance	7286	TUFT1	OMIM:607655
HP:0000005	Mode of inheritance	4891	SLC11A2	OMIM:206100
HP:0000005	Mode of inheritance	22926	ATF6	OMIM:616517
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:616516
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:176670
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:605588
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:248370
HP:0000005	Mode of inheritance	25839	COG4	OMIM:613489
HP:0000005	Mode of inheritance	653361	NCF1	OMIM:233700
HP:0000005	Mode of inheritance	9750	RIPOR2	OMIM:616515
HP:0000005	Mode of inheritance	158326	FREM1	OMIM:608980
HP:0000005	Mode of inheritance	158326	FREM1	OMIM:248450
HP:0000005	Mode of inheritance	27019	DNAI1	OMIM:244400
HP:0000005	Mode of inheritance	5265	SERPINA1	OMIM:613490
HP:0000005	Mode of inheritance	930	CD19	OMIM:613493
HP:0000005	Mode of inheritance	930	CD19	OMIM:240500
HP:0000005	Mode of inheritance	26580	BSCL2	OMIM:269700
HP:0000005	Mode of inheritance	26580	BSCL2	OMIM:615924
HP:0000005	Mode of inheritance	931	MS4A1	OMIM:613495
HP:0000005	Mode of inheritance	115650	TNFRSF13C	OMIM:613494
HP:0000005	Mode of inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000005	Mode of inheritance	975	CD81	OMIM:613496
HP:0000005	Mode of inheritance	131669	UROC1	OMIM:276880
HP:0000005	Mode of inheritance	3575	IL7R	OMIM:608971
HP:0000005	Mode of inheritance	8022	LHX3	OMIM:221750
HP:0000005	Mode of inheritance	122553	TRAPPC6B	OMIM:617862
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:617866
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:617871
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:614099
HP:0000005	Mode of inheritance	50615	IL21R	OMIM:615207
HP:0000005	Mode of inheritance	57570	TRMT5	OMIM:616539
HP:0000005	Mode of inheritance	55612	FERMT1	OMIM:173650
HP:0000005	Mode of inheritance	1605	DAG1	OMIM:616538
HP:0000005	Mode of inheritance	1605	DAG1	OMIM:613818
HP:0000005	Mode of inheritance	84433	CARD11	OMIM:615206
HP:0000005	Mode of inheritance	9076	CLDN1	OMIM:607626
HP:0000005	Mode of inheritance	925	CD8A	OMIM:608957
HP:0000005	Mode of inheritance	10577	NPC2	OMIM:607625
HP:0000005	Mode of inheritance	5873	RAB27A	OMIM:607624
HP:0000005	Mode of inheritance	54802	TRIT1	OMIM:617873
HP:0000005	Mode of inheritance	7518	XRCC4	OMIM:616541
HP:0000005	Mode of inheritance	51081	MRPS7	OMIM:617872
HP:0000005	Mode of inheritance	5295	PIK3R1	OMIM:615214
HP:0000005	Mode of inheritance	9786	KIAA0586	OMIM:616546
HP:0000005	Mode of inheritance	9786	KIAA0586	OMIM:616490
HP:0000005	Mode of inheritance	178	AGL	OMIM:232400
HP:0000005	Mode of inheritance	84700	MYO18B	OMIM:616549
HP:0000005	Mode of inheritance	8777	MPDZ	OMIM:615219
HP:0000005	Mode of inheritance	23533	PIK3R5	OMIM:615217
HP:0000005	Mode of inheritance	6389	SDHA	OMIM:252011
HP:0000005	Mode of inheritance	6389	SDHA	OMIM:613642
HP:0000005	Mode of inheritance	6609	SMPD1	OMIM:607616
HP:0000005	Mode of inheritance	6609	SMPD1	OMIM:257200
HP:0000005	Mode of inheritance	65057	ACD	OMIM:616553
HP:0000005	Mode of inheritance	7305	TYROBP	OMIM:221770
HP:0000005	Mode of inheritance	83452	RAB33B	OMIM:615222
HP:0000005	Mode of inheritance	7471	WNT1	OMIM:615220
HP:0000005	Mode of inheritance	80169	CTC1	OMIM:612199
HP:0000005	Mode of inheritance	7700	ZNF141	OMIM:615226
HP:0000005	Mode of inheritance	109	ADCY3	OMIM:617885
HP:0000005	Mode of inheritance	498	ATP5F1A	OMIM:615228
HP:0000005	Mode of inheritance	498	ATP5F1A	OMIM:616045
HP:0000005	Mode of inheritance	5130	PCYT1A	OMIM:608940
HP:0000005	Mode of inheritance	246329	STAC3	OMIM:255995
HP:0000005	Mode of inheritance	3689	ITGB2	OMIM:116920
HP:0000005	Mode of inheritance	7072	TIA1	OMIM:604454
HP:0000005	Mode of inheritance	4638	MYLK	OMIM:249210
HP:0000005	Mode of inheritance	229	ALDOB	OMIM:229600
HP:0000005	Mode of inheritance	9853	RUSC2	OMIM:617773
HP:0000005	Mode of inheritance	9860	LRIG2	OMIM:615112
HP:0000005	Mode of inheritance	84818	IL17RC	OMIM:616445
HP:0000005	Mode of inheritance	220	ALDH1A3	OMIM:615113
HP:0000005	Mode of inheritance	1355	COX15	OMIM:615119
HP:0000005	Mode of inheritance	81857	MED25	OMIM:616449
HP:0000005	Mode of inheritance	81857	MED25	OMIM:605589
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230600
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230650
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230500
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:253010
HP:0000005	Mode of inheritance	55733	HHAT	OMIM:600092
HP:0000005	Mode of inheritance	267010	RNU12	OMIM:603116
HP:0000005	Mode of inheritance	267010	RNU12	OMIM:620208
HP:0000005	Mode of inheritance	7259	TSPYL1	OMIM:608800
HP:0000005	Mode of inheritance	9742	IFT140	OMIM:617781
HP:0000005	Mode of inheritance	9742	IFT140	OMIM:266920
HP:0000005	Mode of inheritance	4522	MTHFD1	OMIM:617780
HP:0000005	Mode of inheritance	4522	MTHFD1	OMIM:601634
HP:0000005	Mode of inheritance	939	CD27	OMIM:615122
HP:0000005	Mode of inheritance	55159	RFWD3	OMIM:617784
HP:0000005	Mode of inheritance	8842	PROM1	OMIM:612095
HP:0000005	Mode of inheritance	8842	PROM1	OMIM:612657
HP:0000005	Mode of inheritance	375790	AGRN	OMIM:615120
HP:0000005	Mode of inheritance	25959	KANK2	OMIM:617783
HP:0000005	Mode of inheritance	25959	KANK2	OMIM:616099
HP:0000005	Mode of inheritance	200205	IBA57	OMIM:616451
HP:0000005	Mode of inheritance	200205	IBA57	OMIM:615330
HP:0000005	Mode of inheritance	790	CAD	OMIM:616457
HP:0000005	Mode of inheritance	54982	CLN6	OMIM:204300
HP:0000005	Mode of inheritance	54982	CLN6	OMIM:601780
HP:0000005	Mode of inheritance	28960	DCPS	OMIM:616459
HP:0000005	Mode of inheritance	120227	CYP2R1	OMIM:600081
HP:0000005	Mode of inheritance	10388	SYCP2	OMIM:258150
HP:0000005	Mode of inheritance	80153	EDC3	OMIM:616460
HP:0000005	Mode of inheritance	2937	GSS	OMIM:231900
HP:0000005	Mode of inheritance	2937	GSS	OMIM:266130
HP:0000005	Mode of inheritance	79797	ZNF408	OMIM:616469
HP:0000005	Mode of inheritance	152926	PPM1K	OMIM:615135
HP:0000005	Mode of inheritance	1303	COL12A1	OMIM:616470
HP:0000005	Mode of inheritance	57498	KIDINS220	OMIM:619501
HP:0000005	Mode of inheritance	55714	TENM3	OMIM:615145
HP:0000005	Mode of inheritance	246243	RNASEH1	OMIM:616479
HP:0000005	Mode of inheritance	5950	RBP4	OMIM:615147
HP:0000005	Mode of inheritance	8642	DCHS1	OMIM:601390
HP:0000005	Mode of inheritance	491	ATP2B2	OMIM:601386
HP:0000005	Mode of inheritance	83861	RSPH3	OMIM:616481
HP:0000005	Mode of inheritance	85301	COL27A1	OMIM:615155
HP:0000005	Mode of inheritance	84879	MFSD2A	OMIM:616486
HP:0000005	Mode of inheritance	27089	UQCRQ	OMIM:615159
HP:0000005	Mode of inheritance	1182	CLCN3	OMIM:619517
HP:0000005	Mode of inheritance	1001	CDH3	OMIM:225280
HP:0000005	Mode of inheritance	1001	CDH3	OMIM:601553
HP:0000005	Mode of inheritance	9453	GGPS1	OMIM:619518
HP:0000005	Mode of inheritance	54902	TTC19	OMIM:615157
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:250250
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:250460
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:607095
HP:0000005	Mode of inheritance	7381	UQCRB	OMIM:615158
HP:0000005	Mode of inheritance	59335	PRDM12	OMIM:616488
HP:0000005	Mode of inheritance	196385	DNAH10	OMIM:619515
HP:0000005	Mode of inheritance	150468	CKAP2L	OMIM:272440
HP:0000005	Mode of inheritance	8898	MTMR2	OMIM:601382
HP:0000005	Mode of inheritance	9533	POLR1C	OMIM:616494
HP:0000005	Mode of inheritance	9533	POLR1C	OMIM:248390
HP:0000005	Mode of inheritance	7385	UQCRC2	OMIM:615160
HP:0000005	Mode of inheritance	150274	HSCB	OMIM:619523
HP:0000005	Mode of inheritance	3972	LHB	OMIM:228300
HP:0000005	Mode of inheritance	154197	PNLDC1	OMIM:619528
HP:0000005	Mode of inheritance	4353	MPO	OMIM:254600
HP:0000005	Mode of inheritance	10280	SIGMAR1	OMIM:605726
HP:0000005	Mode of inheritance	10280	SIGMAR1	OMIM:614373
HP:0000005	Mode of inheritance	153201	SLC36A2	OMIM:242600
HP:0000005	Mode of inheritance	83723	TLCD3B	OMIM:619531
HP:0000005	Mode of inheritance	22906	TRAK1	OMIM:618201
HP:0000005	Mode of inheritance	79989	IFT56	OMIM:619534
HP:0000005	Mode of inheritance	83938	LRMDA	OMIM:615179
HP:0000005	Mode of inheritance	2678	GGT1	OMIM:231950
HP:0000005	Mode of inheritance	7476	WNT7A	OMIM:276820
HP:0000005	Mode of inheritance	7476	WNT7A	OMIM:228930
HP:0000005	Mode of inheritance	9496	TBX4	OMIM:601360
HP:0000005	Mode of inheritance	9896	FIG4	OMIM:216340
HP:0000005	Mode of inheritance	9896	FIG4	OMIM:612691
HP:0000005	Mode of inheritance	9896	FIG4	OMIM:611228
HP:0000005	Mode of inheritance	148789	B3GALNT2	OMIM:615181
HP:0000005	Mode of inheritance	27247	NFU1	OMIM:605711
HP:0000005	Mode of inheritance	4883	NPR3	OMIM:619543
HP:0000005	Mode of inheritance	6576	SLC25A1	OMIM:615182
HP:0000005	Mode of inheritance	6576	SLC25A1	OMIM:618197
HP:0000005	Mode of inheritance	7040	TGFB1	OMIM:618213
HP:0000005	Mode of inheritance	7040	TGFB1	OMIM:219700
HP:0000005	Mode of inheritance	137392	CIBAR1	OMIM:618219
HP:0000005	Mode of inheritance	164	AP1G1	OMIM:619548
HP:0000005	Mode of inheritance	84888	SPPL2A	OMIM:619549
HP:0000005	Mode of inheritance	2879	GPX4	OMIM:250220
HP:0000005	Mode of inheritance	3912	LAMB1	OMIM:615191
HP:0000005	Mode of inheritance	2235	FECH	OMIM:177000
HP:0000005	Mode of inheritance	199713	NLRP7	OMIM:231090
HP:0000005	Mode of inheritance	4728	NDUFS8	OMIM:618222
HP:0000005	Mode of inheritance	374291	NDUFS7	OMIM:618224
HP:0000005	Mode of inheritance	4723	NDUFV1	OMIM:618225
HP:0000005	Mode of inheritance	9785	DHX38	OMIM:618220
HP:0000005	Mode of inheritance	79705	LRRK1	OMIM:615198
HP:0000005	Mode of inheritance	57102	C12orf4	OMIM:618221
HP:0000005	Mode of inheritance	359	AQP2	OMIM:125800
HP:0000005	Mode of inheritance	4719	NDUFS1	OMIM:618226
HP:0000005	Mode of inheritance	55628	ZNF407	OMIM:619557
HP:0000005	Mode of inheritance	4720	NDUFS2	OMIM:618228
HP:0000005	Mode of inheritance	4729	NDUFV2	OMIM:618229
HP:0000005	Mode of inheritance	4179	CD46	OMIM:612922
HP:0000005	Mode of inheritance	23363	OBSL1	OMIM:612921
HP:0000005	Mode of inheritance	6916	TBXAS1	OMIM:231095
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:113800
HP:0000005	Mode of inheritance	91942	NDUFAF2	OMIM:618233
HP:0000005	Mode of inheritance	6514	SLC2A2	OMIM:227810
HP:0000005	Mode of inheritance	84909	AOPEP	OMIM:619565
HP:0000005	Mode of inheritance	51103	NDUFAF1	OMIM:618234
HP:0000005	Mode of inheritance	3714	JAG2	OMIM:619566
HP:0000005	Mode of inheritance	4695	NDUFA2	OMIM:618235
HP:0000005	Mode of inheritance	126328	NDUFA11	OMIM:618236
HP:0000005	Mode of inheritance	51119	SBDS	OMIM:260400
HP:0000005	Mode of inheritance	6729	SRP54	OMIM:260400
HP:0000005	Mode of inheritance	4722	NDUFS3	OMIM:618230
HP:0000005	Mode of inheritance	219854	TMEM218	OMIM:619562
HP:0000005	Mode of inheritance	147138	TMC8	OMIM:618231
HP:0000005	Mode of inheritance	4726	NDUFS6	OMIM:618232
HP:0000005	Mode of inheritance	29078	NDUFAF4	OMIM:618237
HP:0000005	Mode of inheritance	79133	NDUFAF5	OMIM:618238
HP:0000005	Mode of inheritance	137682	NDUFAF6	OMIM:618239
HP:0000005	Mode of inheritance	137682	NDUFAF6	OMIM:618913
HP:0000005	Mode of inheritance	1130	LYST	OMIM:214500
HP:0000005	Mode of inheritance	3939	LDHA	OMIM:612933
HP:0000005	Mode of inheritance	2027	ENO3	OMIM:612932
HP:0000005	Mode of inheritance	54344	DPM3	OMIM:612937
HP:0000005	Mode of inheritance	54344	DPM3	OMIM:618992
HP:0000005	Mode of inheritance	9179	AP4M1	OMIM:612936
HP:0000005	Mode of inheritance	79944	L2HGDH	OMIM:236792
HP:0000005	Mode of inheritance	79068	FTO	OMIM:612938
HP:0000005	Mode of inheritance	55967	NDUFA12	OMIM:618244
HP:0000005	Mode of inheritance	4715	NDUFB9	OMIM:618245
HP:0000005	Mode of inheritance	56915	EXOSC5	OMIM:619576
HP:0000005	Mode of inheritance	4709	NDUFB3	OMIM:618246
HP:0000005	Mode of inheritance	4704	NDUFA9	OMIM:618247
HP:0000005	Mode of inheritance	25915	NDUFAF3	OMIM:618240
HP:0000005	Mode of inheritance	55572	FOXRED1	OMIM:618241
HP:0000005	Mode of inheritance	80224	NUBPL	OMIM:618242
HP:0000005	Mode of inheritance	50619	DEF6	OMIM:619573
HP:0000005	Mode of inheritance	4705	NDUFA10	OMIM:618243
HP:0000005	Mode of inheritance	7170	TPM3	OMIM:609284
HP:0000005	Mode of inheritance	7170	TPM3	OMIM:255310
HP:0000005	Mode of inheritance	5831	PYCR1	OMIM:612940
HP:0000005	Mode of inheritance	5831	PYCR1	OMIM:614438
HP:0000005	Mode of inheritance	123263	MTFMT	OMIM:618248
HP:0000005	Mode of inheritance	123263	MTFMT	OMIM:614947
HP:0000005	Mode of inheritance	51079	NDUFA13	OMIM:618249
HP:0000005	Mode of inheritance	9820	CUL7	OMIM:273750
HP:0000005	Mode of inheritance	92344	GORAB	OMIM:231070
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:611615
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:611588
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:613152
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:253800
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:236670
HP:0000005	Mode of inheritance	23203	PMPCA	OMIM:213200
HP:0000005	Mode of inheritance	8604	SLC25A12	OMIM:612949
HP:0000005	Mode of inheritance	55863	TMEM126B	OMIM:618250
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:267010
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:604387
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:208540
HP:0000005	Mode of inheritance	6795	AURKC	OMIM:243060
HP:0000005	Mode of inheritance	55814	BDP1	OMIM:618257
HP:0000005	Mode of inheritance	51300	TIMMDC1	OMIM:618251
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:619582
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:619585
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:617119
HP:0000005	Mode of inheritance	4714	NDUFB8	OMIM:618252
HP:0000005	Mode of inheritance	4700	NDUFA6	OMIM:618253
HP:0000005	Mode of inheritance	115399	LRRC56	OMIM:618254
HP:0000005	Mode of inheritance	8635	RNASET2	OMIM:612951
HP:0000005	Mode of inheritance	1200	TPP1	OMIM:609270
HP:0000005	Mode of inheritance	1200	TPP1	OMIM:204500
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:612953
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:610217
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:256600
HP:0000005	Mode of inheritance	25939	SAMHD1	OMIM:612952
HP:0000005	Mode of inheritance	9244	CRLF1	OMIM:272430
HP:0000005	Mode of inheritance	970	CD70	OMIM:618261
HP:0000005	Mode of inheritance	80347	COASY	OMIM:618266
HP:0000005	Mode of inheritance	80347	COASY	OMIM:615643
HP:0000005	Mode of inheritance	54507	ADAMTSL4	OMIM:225200
HP:0000005	Mode of inheritance	54507	ADAMTSL4	OMIM:225100
HP:0000005	Mode of inheritance	10519	CIB1	OMIM:618267
HP:0000005	Mode of inheritance	57003	CCDC47	OMIM:618268
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:619599
HP:0000005	Mode of inheritance	10847	SRCAP	OMIM:619595
HP:0000005	Mode of inheritance	2312	FLG	OMIM:146700
HP:0000005	Mode of inheritance	374354	NHLRC2	OMIM:618278
HP:0000005	Mode of inheritance	64131	XYLT1	OMIM:264800
HP:0000005	Mode of inheritance	64131	XYLT1	OMIM:615777
HP:0000005	Mode of inheritance	368	ABCC6	OMIM:264800
HP:0000005	Mode of inheritance	368	ABCC6	OMIM:614473
HP:0000005	Mode of inheritance	23287	AGTPBP1	OMIM:618276
HP:0000005	Mode of inheritance	64093	SMOC1	OMIM:206920
HP:0000005	Mode of inheritance	23529	CLCF1	OMIM:610313
HP:0000005	Mode of inheritance	60681	FKBP10	OMIM:259450
HP:0000005	Mode of inheritance	60681	FKBP10	OMIM:610968
HP:0000005	Mode of inheritance	9657	IQCB1	OMIM:609254
HP:0000005	Mode of inheritance	84905	ZNF341	OMIM:618282
HP:0000005	Mode of inheritance	4140	MARK3	OMIM:618283
HP:0000005	Mode of inheritance	3739	KCNA4	OMIM:618284
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:201250
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:200700
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:615072
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:228900
HP:0000005	Mode of inheritance	4668	NAGA	OMIM:609241
HP:0000005	Mode of inheritance	4668	NAGA	OMIM:609242
HP:0000005	Mode of inheritance	9487	PIGL	OMIM:280000
HP:0000005	Mode of inheritance	5479	PPIB	OMIM:259440
HP:0000005	Mode of inheritance	84233	TMEM126A	OMIM:612989
HP:0000005	Mode of inheritance	84153	RNASEH2C	OMIM:610329
HP:0000005	Mode of inheritance	1795	DOCK3	OMIM:618292
HP:0000005	Mode of inheritance	5257	PHKB	OMIM:261750
HP:0000005	Mode of inheritance	8665	EIF3F	OMIM:618295
HP:0000005	Mode of inheritance	10535	RNASEH2A	OMIM:610333
HP:0000005	Mode of inheritance	117155	CATSPER2	OMIM:612997
HP:0000005	Mode of inheritance	117155	CATSPER2	OMIM:611102
HP:0000005	Mode of inheritance	161497	STRC	OMIM:612997
HP:0000005	Mode of inheritance	161497	STRC	OMIM:603720
HP:0000005	Mode of inheritance	161497	STRC	OMIM:611102
HP:0000005	Mode of inheritance	117144	CATSPER1	OMIM:612997
HP:0000005	Mode of inheritance	6295	SAG	OMIM:258100
HP:0000005	Mode of inheritance	6295	SAG	OMIM:613758
HP:0000005	Mode of inheritance	1534	CYB561	OMIM:618182
HP:0000005	Mode of inheritance	83483	PLVAP	OMIM:618183
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:618180
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:620173
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:614861
HP:0000005	Mode of inheritance	79717	PPCS	OMIM:618189
HP:0000005	Mode of inheritance	8506	CNTNAP1	OMIM:618186
HP:0000005	Mode of inheritance	8506	CNTNAP1	OMIM:616286
HP:0000005	Mode of inheritance	55503	TRPV6	OMIM:618188
HP:0000005	Mode of inheritance	80821	DDHD1	OMIM:609340
HP:0000005	Mode of inheritance	494513	PJVK	OMIM:610220
HP:0000005	Mode of inheritance	84515	MCM8	OMIM:612885
HP:0000005	Mode of inheritance	8195	MKKS	OMIM:236700
HP:0000005	Mode of inheritance	8195	MKKS	OMIM:605231
HP:0000005	Mode of inheritance	2997	GYS1	OMIM:611556
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:253280
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:613151
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:613157
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:617123
HP:0000005	Mode of inheritance	3291	HSD11B2	OMIM:218030
HP:0000005	Mode of inheritance	5111	PCNA	OMIM:615919
HP:0000005	Mode of inheritance	57176	VARS2	OMIM:615917
HP:0000005	Mode of inheritance	80222	TARS2	OMIM:615918
HP:0000005	Mode of inheritance	54209	TREM2	OMIM:618193
HP:0000005	Mode of inheritance	49855	SCAPER	OMIM:618195
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:245660
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:226700
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:619784
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:619783
HP:0000005	Mode of inheritance	4649	MYO9A	OMIM:618198
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:611561
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:611560
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:619113
HP:0000005	Mode of inheritance	3141	HLCS	OMIM:253270
HP:0000005	Mode of inheritance	25782	RAB3GAP2	OMIM:212720
HP:0000005	Mode of inheritance	25782	RAB3GAP2	OMIM:614225
HP:0000005	Mode of inheritance	9915	ARNT2	OMIM:615926
HP:0000005	Mode of inheritance	2693	GHSR	OMIM:615925
HP:0000005	Mode of inheritance	4868	NPHS1	OMIM:256300
HP:0000005	Mode of inheritance	7827	NPHS2	OMIM:600995
HP:0000005	Mode of inheritance	348	APOE	OMIM:269600
HP:0000005	Mode of inheritance	6499	SKIC2	OMIM:614602
HP:0000005	Mode of inheritance	686	BTD	OMIM:253260
HP:0000005	Mode of inheritance	256297	PTF1A	OMIM:615935
HP:0000005	Mode of inheritance	256297	PTF1A	OMIM:609069
HP:0000005	Mode of inheritance	7840	ALMS1	OMIM:203800
HP:0000005	Mode of inheritance	4591	TRIM37	OMIM:253250
HP:0000005	Mode of inheritance	124512	METTL23	OMIM:615942
HP:0000005	Mode of inheritance	26005	C2CD3	OMIM:615948
HP:0000005	Mode of inheritance	9152	SLC6A5	OMIM:614618
HP:0000005	Mode of inheritance	65250	CPLANE1	OMIM:614615
HP:0000005	Mode of inheritance	65250	CPLANE1	OMIM:277170
HP:0000005	Mode of inheritance	338328	GPIHBP1	OMIM:615947
HP:0000005	Mode of inheritance	1174	AP1S1	OMIM:609313
HP:0000005	Mode of inheritance	121512	FGD4	OMIM:609311
HP:0000005	Mode of inheritance	7915	ALDH5A1	OMIM:271980
HP:0000005	Mode of inheritance	2743	GLRB	OMIM:614619
HP:0000005	Mode of inheritance	129563	DIS3L2	OMIM:267000
HP:0000005	Mode of inheritance	117531	TMC1	OMIM:600974
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:609308
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:613155
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:236670
HP:0000005	Mode of inheritance	443	ASPA	OMIM:271900
HP:0000005	Mode of inheritance	259236	TMIE	OMIM:600971
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:600972
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:256050
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:222600
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:226900
HP:0000005	Mode of inheritance	80326	WNT10A	OMIM:224750
HP:0000005	Mode of inheritance	80326	WNT10A	OMIM:257980
HP:0000005	Mode of inheritance	80326	WNT10A	OMIM:150400
HP:0000005	Mode of inheritance	7010	TEK	OMIM:600975
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:600975
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:231300
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:617315
HP:0000005	Mode of inheritance	6521	SLC4A1	OMIM:611590
HP:0000005	Mode of inheritance	222662	LHFPL5	OMIM:610265
HP:0000005	Mode of inheritance	10290	SPEG	OMIM:615959
HP:0000005	Mode of inheritance	79751	SLC25A22	OMIM:609304
HP:0000005	Mode of inheritance	9719	ADAMTSL2	OMIM:231050
HP:0000005	Mode of inheritance	9321	TRIP11	OMIM:184260
HP:0000005	Mode of inheritance	9321	TRIP11	OMIM:200600
HP:0000005	Mode of inheritance	284217	LAMA1	OMIM:615960
HP:0000005	Mode of inheritance	5591	PRKDC	OMIM:615966
HP:0000005	Mode of inheritance	286262	TPRN	OMIM:613307
HP:0000005	Mode of inheritance	7443	VRK1	OMIM:607596
HP:0000005	Mode of inheritance	64902	AGXT2	OMIM:210100
HP:0000005	Mode of inheritance	174	AFP	OMIM:615969
HP:0000005	Mode of inheritance	29851	ICOS	OMIM:607594
HP:0000005	Mode of inheritance	29851	ICOS	OMIM:240500
HP:0000005	Mode of inheritance	4920	ROR2	OMIM:268310
HP:0000005	Mode of inheritance	5122	PCSK1	OMIM:600955
HP:0000005	Mode of inheritance	50484	RRM2B	OMIM:268315
HP:0000005	Mode of inheritance	50484	RRM2B	OMIM:612075
HP:0000005	Mode of inheritance	64218	SEMA4A	OMIM:610282
HP:0000005	Mode of inheritance	64218	SEMA4A	OMIM:610283
HP:0000005	Mode of inheritance	282809	POC1B	OMIM:615973
HP:0000005	Mode of inheritance	729920	CRPPA	OMIM:614643
HP:0000005	Mode of inheritance	729920	CRPPA	OMIM:616052
HP:0000005	Mode of inheritance	2059	EPS8	OMIM:615974
HP:0000005	Mode of inheritance	57654	UVSSA	OMIM:614640
HP:0000005	Mode of inheritance	57817	HAMP	OMIM:613313
HP:0000005	Mode of inheritance	1535	CYBA	OMIM:233690
HP:0000005	Mode of inheritance	79791	FBXO31	OMIM:615979
HP:0000005	Mode of inheritance	203859	ANO5	OMIM:613319
HP:0000005	Mode of inheritance	203859	ANO5	OMIM:611307
HP:0000005	Mode of inheritance	157570	ESCO2	OMIM:268300
HP:0000005	Mode of inheritance	157570	ESCO2	OMIM:216100
HP:0000005	Mode of inheritance	23636	NUP62	OMIM:271930
HP:0000005	Mode of inheritance	9775	EIF4A3	OMIM:268305
HP:0000005	Mode of inheritance	3991	LIPE	OMIM:615980
HP:0000005	Mode of inheritance	51004	COQ6	OMIM:614650
HP:0000005	Mode of inheritance	93183	PIGM	OMIM:610293
HP:0000005	Mode of inheritance	55212	BBS7	OMIM:615984
HP:0000005	Mode of inheritance	667	DST	OMIM:614653
HP:0000005	Mode of inheritance	667	DST	OMIM:615425
HP:0000005	Mode of inheritance	57017	COQ9	OMIM:614654
HP:0000005	Mode of inheritance	51025	PAM16	OMIM:613320
HP:0000005	Mode of inheritance	585	BBS4	OMIM:615982
HP:0000005	Mode of inheritance	23590	PDSS1	OMIM:614651
HP:0000005	Mode of inheritance	129880	BBS5	OMIM:615983
HP:0000005	Mode of inheritance	57107	PDSS2	OMIM:614652
HP:0000005	Mode of inheritance	22954	TRIM32	OMIM:615988
HP:0000005	Mode of inheritance	22954	TRIM32	OMIM:254110
HP:0000005	Mode of inheritance	166379	BBS12	OMIM:615989
HP:0000005	Mode of inheritance	27241	BBS9	OMIM:615986
HP:0000005	Mode of inheritance	1146	CHRNG	OMIM:253290
HP:0000005	Mode of inheritance	1146	CHRNG	OMIM:265000
HP:0000005	Mode of inheritance	1144	CHRND	OMIM:253290
HP:0000005	Mode of inheritance	1144	CHRND	OMIM:616322
HP:0000005	Mode of inheritance	1144	CHRND	OMIM:616323
HP:0000005	Mode of inheritance	284119	CAVIN1	OMIM:613327
HP:0000005	Mode of inheritance	79738	BBS10	OMIM:615987
HP:0000005	Mode of inheritance	5054	SERPINE1	OMIM:613329
HP:0000005	Mode of inheritance	90417	KNSTRN	OMIM:613328
HP:0000005	Mode of inheritance	5293	PIK3CD	OMIM:613328
HP:0000005	Mode of inheritance	5293	PIK3CD	OMIM:619281
HP:0000005	Mode of inheritance	60495	HPSE2	OMIM:236730
HP:0000005	Mode of inheritance	3078	CFHR1	OMIM:235400
HP:0000005	Mode of inheritance	10878	CFHR3	OMIM:235400
HP:0000005	Mode of inheritance	4038	LRP4	OMIM:212780
HP:0000005	Mode of inheritance	4038	LRP4	OMIM:616304
HP:0000005	Mode of inheritance	4038	LRP4	OMIM:614305
HP:0000005	Mode of inheritance	1738	DLD	OMIM:246900
HP:0000005	Mode of inheritance	201294	UNC13D	OMIM:608898
HP:0000005	Mode of inheritance	51057	WDPCP	OMIM:615992
HP:0000005	Mode of inheritance	51057	WDPCP	OMIM:217085
HP:0000005	Mode of inheritance	579	NKX3-2	OMIM:613330
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:615990
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:617121
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:249000
HP:0000005	Mode of inheritance	5193	PEX12	OMIM:266510
HP:0000005	Mode of inheritance	5193	PEX12	OMIM:614859
HP:0000005	Mode of inheritance	92482	BBIP1	OMIM:615995
HP:0000005	Mode of inheritance	11020	IFT27	OMIM:615996
HP:0000005	Mode of inheritance	2984	GUCY2C	OMIM:614665
HP:0000005	Mode of inheritance	10806	SDCCAG8	OMIM:615993
HP:0000005	Mode of inheritance	10806	SDCCAG8	OMIM:613615
HP:0000005	Mode of inheritance	54585	LZTFL1	OMIM:615994
HP:0000005	Mode of inheritance	213	ALB	OMIM:615999
HP:0000005	Mode of inheritance	213	ALB	OMIM:616000
HP:0000005	Mode of inheritance	5332	PLCB4	OMIM:614669
HP:0000005	Mode of inheritance	411	ARSB	OMIM:253200
HP:0000005	Mode of inheritance	91179	SCARF2	OMIM:600920
HP:0000005	Mode of inheritance	5264	PHYH	OMIM:266500
HP:0000005	Mode of inheritance	57798	GATAD1	OMIM:614672
HP:0000005	Mode of inheritance	10525	HYOU1	OMIM:233600
HP:0000005	Mode of inheritance	9662	CEP135	OMIM:614673
HP:0000005	Mode of inheritance	3459	IFNGR1	OMIM:209950
HP:0000005	Mode of inheritance	388389	CCDC103	OMIM:614679
HP:0000005	Mode of inheritance	56997	COQ8A	OMIM:612016
HP:0000005	Mode of inheritance	91869	RFT1	OMIM:612015
HP:0000005	Mode of inheritance	51010	EXOSC3	OMIM:614678
HP:0000005	Mode of inheritance	11093	ADAMTS13	OMIM:274150
HP:0000005	Mode of inheritance	6301	SARS1	OMIM:617709
HP:0000005	Mode of inheritance	56155	TEX14	OMIM:617707
HP:0000005	Mode of inheritance	254528	MEIOB	OMIM:617706
HP:0000005	Mode of inheritance	26224	FBXL3	OMIM:606220
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:612020
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:245800
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:215470
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:275400
HP:0000005	Mode of inheritance	10352	WARS2	OMIM:617710
HP:0000005	Mode of inheritance	10352	WARS2	OMIM:619738
HP:0000005	Mode of inheritance	708	C1QBP	OMIM:617713
HP:0000005	Mode of inheritance	124583	CANT1	OMIM:617719
HP:0000005	Mode of inheritance	124583	CANT1	OMIM:251450
HP:0000005	Mode of inheritance	10095	ARPC1B	OMIM:617718
HP:0000005	Mode of inheritance	2232	FDXR	OMIM:617717
HP:0000005	Mode of inheritance	2178	FANCE	OMIM:600901
HP:0000005	Mode of inheritance	3758	KCNJ1	OMIM:241200
HP:0000005	Mode of inheritance	55750	AGK	OMIM:614691
HP:0000005	Mode of inheritance	55750	AGK	OMIM:212350
HP:0000005	Mode of inheritance	1380	CR2	OMIM:614699
HP:0000005	Mode of inheritance	1380	CR2	OMIM:240500
HP:0000005	Mode of inheritance	55644	OSGEP	OMIM:617729
HP:0000005	Mode of inheritance	112858	TP53RK	OMIM:617730
HP:0000005	Mode of inheritance	163786	SASS6	OMIM:616402
HP:0000005	Mode of inheritance	2548	GAA	OMIM:232300
HP:0000005	Mode of inheritance	51002	TPRKB	OMIM:617731
HP:0000005	Mode of inheritance	83737	ITCH	OMIM:613385
HP:0000005	Mode of inheritance	197135	PATL2	OMIM:617743
HP:0000005	Mode of inheritance	6569	SLC34A1	OMIM:613388
HP:0000005	Mode of inheritance	6569	SLC34A1	OMIM:616963
HP:0000005	Mode of inheritance	54805	CNNM2	OMIM:616418
HP:0000005	Mode of inheritance	4913	NTHL1	OMIM:616415
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:608840
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:613154
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:236670
HP:0000005	Mode of inheritance	29929	ALG6	OMIM:603147
HP:0000005	Mode of inheritance	5889	RAD51C	OMIM:613390
HP:0000005	Mode of inheritance	374462	PTPRQ	OMIM:613391
HP:0000005	Mode of inheritance	29920	PYCR2	OMIM:616420
HP:0000005	Mode of inheritance	3889	KRT83	OMIM:617756
HP:0000005	Mode of inheritance	1663	DDX11	OMIM:613398
HP:0000005	Mode of inheritance	8575	PRKRA	OMIM:612067
HP:0000005	Mode of inheritance	2990	GUSB	OMIM:253220
HP:0000005	Mode of inheritance	9469	CHST3	OMIM:245600
HP:0000005	Mode of inheritance	9469	CHST3	OMIM:143095
HP:0000005	Mode of inheritance	26229	B3GAT3	OMIM:245600
HP:0000005	Mode of inheritance	23404	EXOSC2	OMIM:617763
HP:0000005	Mode of inheritance	55331	ACER3	OMIM:617762
HP:0000005	Mode of inheritance	8803	SUCLA2	OMIM:612073
HP:0000005	Mode of inheritance	153241	CEP120	OMIM:617761
HP:0000005	Mode of inheritance	153241	CEP120	OMIM:616300
HP:0000005	Mode of inheritance	92935	MARS2	OMIM:616430
HP:0000005	Mode of inheritance	92935	MARS2	OMIM:611390
HP:0000005	Mode of inheritance	56606	SLC2A9	OMIM:612076
HP:0000005	Mode of inheritance	51776	MAP3K20	OMIM:617760
HP:0000005	Mode of inheritance	51776	MAP3K20	OMIM:616890
HP:0000005	Mode of inheritance	10464	PIBF1	OMIM:617767
HP:0000005	Mode of inheritance	29089	UBE2T	OMIM:616435
HP:0000005	Mode of inheritance	7372	UMPS	OMIM:258900
HP:0000005	Mode of inheritance	1794	DOCK2	OMIM:616433
HP:0000005	Mode of inheritance	55131	RBM28	OMIM:612079
HP:0000005	Mode of inheritance	6647	SOD1	OMIM:105400
HP:0000005	Mode of inheritance	6647	SOD1	OMIM:618598
HP:0000005	Mode of inheritance	5630	PRPH	OMIM:105400
HP:0000005	Mode of inheritance	1639	DCTN1	OMIM:105400
HP:0000005	Mode of inheritance	4744	NEFH	OMIM:105400
HP:0000005	Mode of inheritance	9990	SLC12A6	OMIM:218000
HP:0000005	Mode of inheritance	261734	NPHP4	OMIM:606996
HP:0000005	Mode of inheritance	261734	NPHP4	OMIM:606966
HP:0000005	Mode of inheritance	6555	SLC10A2	OMIM:613291
HP:0000005	Mode of inheritance	3071	NCKAP1L	OMIM:618982
HP:0000005	Mode of inheritance	3998	LMAN1	OMIM:227300
HP:0000005	Mode of inheritance	4593	MUSK	OMIM:616325
HP:0000005	Mode of inheritance	4593	MUSK	OMIM:208150
HP:0000005	Mode of inheritance	4919	ROR1	OMIM:617654
HP:0000005	Mode of inheritance	5880	RAC2	OMIM:618987
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:253601
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:606768
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:254130
HP:0000005	Mode of inheritance	825	CAPN3	OMIM:253600
HP:0000005	Mode of inheritance	4552	MTRR	OMIM:236270
HP:0000005	Mode of inheritance	4552	MTRR	OMIM:601634
HP:0000005	Mode of inheritance	23498	HAAO	OMIM:617660
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:266900
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:609583
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:256100
HP:0000005	Mode of inheritance	65993	MRPS34	OMIM:617664
HP:0000005	Mode of inheritance	1584	CYP11B1	OMIM:202010
HP:0000005	Mode of inheritance	64412	GZF1	OMIM:617662
HP:0000005	Mode of inheritance	387787	LIPT2	OMIM:617668
HP:0000005	Mode of inheritance	6487	ST3GAL3	OMIM:615006
HP:0000005	Mode of inheritance	6487	ST3GAL3	OMIM:611090
HP:0000005	Mode of inheritance	23426	GRIP1	OMIM:617667
HP:0000005	Mode of inheritance	27229	TUBGCP4	OMIM:616335
HP:0000005	Mode of inheritance	341640	FREM2	OMIM:617666
HP:0000005	Mode of inheritance	341640	FREM2	OMIM:123570
HP:0000005	Mode of inheritance	10686	CLDN16	OMIM:248250
HP:0000005	Mode of inheritance	51112	TRAPPC12	OMIM:617669
HP:0000005	Mode of inheritance	8526	DGKE	OMIM:615008
HP:0000005	Mode of inheritance	3508	IGHMBP2	OMIM:604320
HP:0000005	Mode of inheritance	3508	IGHMBP2	OMIM:616155
HP:0000005	Mode of inheritance	57082	KNL1	OMIM:604321
HP:0000005	Mode of inheritance	55650	PIGV	OMIM:239300
HP:0000005	Mode of inheritance	284403	WDR62	OMIM:604317
HP:0000005	Mode of inheritance	6444	SGCD	OMIM:601287
HP:0000005	Mode of inheritance	2212	FCGR2A	OMIM:219700
HP:0000005	Mode of inheritance	1080	CFTR	OMIM:219700
HP:0000005	Mode of inheritance	1080	CFTR	OMIM:277180
HP:0000005	Mode of inheritance	9071	CLDN10	OMIM:617671
HP:0000005	Mode of inheritance	55154	MSTO1	OMIM:617675
HP:0000005	Mode of inheritance	103	ADAR	OMIM:615010
HP:0000005	Mode of inheritance	1020	CDK5	OMIM:616342
HP:0000005	Mode of inheritance	54757	FAM20A	OMIM:204690
HP:0000005	Mode of inheritance	85007	PHYKPL	OMIM:615011
HP:0000005	Mode of inheritance	3665	IRF7	OMIM:616345
HP:0000005	Mode of inheritance	26154	ABCA12	OMIM:601277
HP:0000005	Mode of inheritance	26154	ABCA12	OMIM:242500
HP:0000005	Mode of inheritance	4620	MYH2	OMIM:605637
HP:0000005	Mode of inheritance	4524	MTHFR	OMIM:236250
HP:0000005	Mode of inheritance	4524	MTHFR	OMIM:601634
HP:0000005	Mode of inheritance	567	B2M	OMIM:241600
HP:0000005	Mode of inheritance	204219	CERS3	OMIM:615023
HP:0000005	Mode of inheritance	57231	SNX14	OMIM:616354
HP:0000005	Mode of inheritance	285848	PNPLA1	OMIM:615024
HP:0000005	Mode of inheritance	23086	EXPH5	OMIM:615028
HP:0000005	Mode of inheritance	950	SCARB2	OMIM:254900
HP:0000005	Mode of inheritance	81794	ADAMTS10	OMIM:277600
HP:0000005	Mode of inheritance	113612	CYP2U1	OMIM:615030
HP:0000005	Mode of inheritance	9895	TECPR2	OMIM:615031
HP:0000005	Mode of inheritance	402381	SOHLH1	OMIM:617690
HP:0000005	Mode of inheritance	91574	MTRFR	OMIM:615035
HP:0000005	Mode of inheritance	91574	MTRFR	OMIM:613559
HP:0000005	Mode of inheritance	55773	TBC1D23	OMIM:617695
HP:0000005	Mode of inheritance	8558	CDK10	OMIM:617694
HP:0000005	Mode of inheritance	23259	DDHD2	OMIM:615033
HP:0000005	Mode of inheritance	92609	TIMM50	OMIM:617698
HP:0000005	Mode of inheritance	5836	PYGL	OMIM:232700
HP:0000005	Mode of inheritance	58	ACTA1	OMIM:161800
HP:0000005	Mode of inheritance	7173	TPO	OMIM:274500
HP:0000005	Mode of inheritance	6101	RP1	OMIM:180100
HP:0000005	Mode of inheritance	124590	USH1G	OMIM:606943
HP:0000005	Mode of inheritance	10329	RXYLT1	OMIM:615041
HP:0000005	Mode of inheritance	8818	DPM2	OMIM:615042
HP:0000005	Mode of inheritance	122961	ISCA2	OMIM:616370
HP:0000005	Mode of inheritance	83636	C19orf12	OMIM:615043
HP:0000005	Mode of inheritance	83636	C19orf12	OMIM:614298
HP:0000005	Mode of inheritance	3579	CXCR2	OMIM:619407
HP:0000005	Mode of inheritance	10531	PITRM1	OMIM:619405
HP:0000005	Mode of inheritance	3773	KCNJ16	OMIM:619406
HP:0000005	Mode of inheritance	4351	MPI	OMIM:602579
HP:0000005	Mode of inheritance	326	AIRE	OMIM:240300
HP:0000005	Mode of inheritance	8565	YARS1	OMIM:619418
HP:0000005	Mode of inheritance	345193	LRIT3	OMIM:615058
HP:0000005	Mode of inheritance	5741	PTH	OMIM:146200
HP:0000005	Mode of inheritance	2779	GNAT1	OMIM:616389
HP:0000005	Mode of inheritance	286204	CRB2	OMIM:219730
HP:0000005	Mode of inheritance	286204	CRB2	OMIM:616220
HP:0000005	Mode of inheritance	1967	EIF2B1	OMIM:603896
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:218400
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:257850
HP:0000005	Mode of inheritance	5959	RDH5	OMIM:136880
HP:0000005	Mode of inheritance	6010	RHO	OMIM:136880
HP:0000005	Mode of inheritance	6010	RHO	OMIM:613731
HP:0000005	Mode of inheritance	6017	RLBP1	OMIM:136880
HP:0000005	Mode of inheritance	6017	RLBP1	OMIM:607476
HP:0000005	Mode of inheritance	6017	RLBP1	OMIM:607475
HP:0000005	Mode of inheritance	2071	ERCC3	OMIM:616390
HP:0000005	Mode of inheritance	2071	ERCC3	OMIM:610651
HP:0000005	Mode of inheritance	85300	ATCAY	OMIM:601238
HP:0000005	Mode of inheritance	404672	GTF2H5	OMIM:616395
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:616394
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:619471
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:615630
HP:0000005	Mode of inheritance	10533	ATG7	OMIM:619422
HP:0000005	Mode of inheritance	205327	C2orf69	OMIM:619423
HP:0000005	Mode of inheritance	4633	MYL2	OMIM:619424
HP:0000005	Mode of inheritance	93233	ODAD1	OMIM:615067
HP:0000005	Mode of inheritance	9427	ECEL1	OMIM:615065
HP:0000005	Mode of inheritance	55151	TMEM38B	OMIM:615066
HP:0000005	Mode of inheritance	344	APOC2	OMIM:207750
HP:0000005	Mode of inheritance	2583	B4GALNT1	OMIM:609195
HP:0000005	Mode of inheritance	11232	POLG2	OMIM:619425
HP:0000005	Mode of inheritance	11232	POLG2	OMIM:618528
HP:0000005	Mode of inheritance	389827	MYMK	OMIM:254940
HP:0000005	Mode of inheritance	51574	LARP7	OMIM:615071
HP:0000005	Mode of inheritance	65992	DDRGK1	OMIM:602557
HP:0000005	Mode of inheritance	10112	KIF20A	OMIM:619433
HP:0000005	Mode of inheritance	84894	LINGO1	OMIM:618103
HP:0000005	Mode of inheritance	10765	KDM5B	OMIM:618109
HP:0000005	Mode of inheritance	27148	STK36	OMIM:619436
HP:0000005	Mode of inheritance	9526	MPDU1	OMIM:609180
HP:0000005	Mode of inheritance	8737	RIPK1	OMIM:618108
HP:0000005	Mode of inheritance	5428	POLG	OMIM:258450
HP:0000005	Mode of inheritance	5428	POLG	OMIM:607459
HP:0000005	Mode of inheritance	5428	POLG	OMIM:603041
HP:0000005	Mode of inheritance	5428	POLG	OMIM:203700
HP:0000005	Mode of inheritance	5428	POLG	OMIM:613662
HP:0000005	Mode of inheritance	1120	CHKB	OMIM:602541
HP:0000005	Mode of inheritance	4054	LTBP3	OMIM:601216
HP:0000005	Mode of inheritance	3728	JUP	OMIM:601214
HP:0000005	Mode of inheritance	29887	SNX10	OMIM:615085
HP:0000005	Mode of inheritance	83449	PMFBP1	OMIM:618112
HP:0000005	Mode of inheritance	6809	STX3	OMIM:619445
HP:0000005	Mode of inheritance	6809	STX3	OMIM:619446
HP:0000005	Mode of inheritance	92667	MGME1	OMIM:615084
HP:0000005	Mode of inheritance	8492	PRSS12	OMIM:249500
HP:0000005	Mode of inheritance	51163	DBR1	OMIM:619441
HP:0000005	Mode of inheritance	122402	TDRD9	OMIM:618110
HP:0000005	Mode of inheritance	114803	MYSM1	OMIM:618116
HP:0000005	Mode of inheritance	2250	FGF5	OMIM:190330
HP:0000005	Mode of inheritance	176	ACAN	OMIM:612813
HP:0000005	Mode of inheritance	23218	NBEAL2	OMIM:139090
HP:0000005	Mode of inheritance	56975	FAM20C	OMIM:259775
HP:0000005	Mode of inheritance	55249	YY1AP1	OMIM:602531
HP:0000005	Mode of inheritance	2735	GLI1	OMIM:618123
HP:0000005	Mode of inheritance	2735	GLI1	OMIM:174400
HP:0000005	Mode of inheritance	8888	MCM3AP	OMIM:618124
HP:0000005	Mode of inheritance	63925	ZNF335	OMIM:615095
HP:0000005	Mode of inheritance	513	ATP5F1D	OMIM:618120
HP:0000005	Mode of inheritance	4052	LTBP1	OMIM:619451
HP:0000005	Mode of inheritance	81788	NUAK2	OMIM:619452
HP:0000005	Mode of inheritance	27341	RRP7A	OMIM:619453
HP:0000005	Mode of inheritance	7809	BSND	OMIM:602522
HP:0000005	Mode of inheritance	3155	HMGCL	OMIM:246450
HP:0000005	Mode of inheritance	84892	POMGNT2	OMIM:618135
HP:0000005	Mode of inheritance	84892	POMGNT2	OMIM:614830
HP:0000005	Mode of inheritance	7161	TP73	OMIM:619466
HP:0000005	Mode of inheritance	254428	SLC41A1	OMIM:619468
HP:0000005	Mode of inheritance	127833	SYT2	OMIM:619461
HP:0000005	Mode of inheritance	146206	CARMIL2	OMIM:618131
HP:0000005	Mode of inheritance	55340	GIMAP5	OMIM:619463
HP:0000005	Mode of inheritance	3908	LAMA2	OMIM:618138
HP:0000005	Mode of inheritance	3908	LAMA2	OMIM:607855
HP:0000005	Mode of inheritance	1244	ABCC2	OMIM:237500
HP:0000005	Mode of inheritance	84065	TMEM222	OMIM:619470
HP:0000005	Mode of inheritance	24	ABCA4	OMIM:248200
HP:0000005	Mode of inheritance	24	ABCA4	OMIM:604116
HP:0000005	Mode of inheritance	24	ABCA4	OMIM:601718
HP:0000005	Mode of inheritance	10205	MPZL2	OMIM:618145
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:619476
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:619479
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:617127
HP:0000005	Mode of inheritance	8991	SELENBP1	OMIM:618148
HP:0000005	Mode of inheritance	10526	IPO8	OMIM:619472
HP:0000005	Mode of inheritance	348180	CTU2	OMIM:618142
HP:0000005	Mode of inheritance	94005	PIGS	OMIM:618143
HP:0000005	Mode of inheritance	55651	NHP2	OMIM:224230
HP:0000005	Mode of inheritance	55651	NHP2	OMIM:613987
HP:0000005	Mode of inheritance	55505	NOP10	OMIM:224230
HP:0000005	Mode of inheritance	22901	ARSG	OMIM:618144
HP:0000005	Mode of inheritance	3257	HPS1	OMIM:203300
HP:0000005	Mode of inheritance	83706	FERMT3	OMIM:612840
HP:0000005	Mode of inheritance	9060	PAPSS2	OMIM:612847
HP:0000005	Mode of inheritance	123264	SLC51B	OMIM:619481
HP:0000005	Mode of inheritance	283446	MYO1H	OMIM:619482
HP:0000005	Mode of inheritance	3709	ITPR2	OMIM:106190
HP:0000005	Mode of inheritance	3636	INPPL1	OMIM:258480
HP:0000005	Mode of inheritance	2222	FDFT1	OMIM:618156
HP:0000005	Mode of inheritance	100147744	RNU7-1	OMIM:619487
HP:0000005	Mode of inheritance	374879	ZNF699	OMIM:619488
HP:0000005	Mode of inheritance	2692	GHRHR	OMIM:618157
HP:0000005	Mode of inheritance	60676	PAPPA2	OMIM:619489
HP:0000005	Mode of inheritance	144406	CFAP251	OMIM:618152
HP:0000005	Mode of inheritance	10660	LBX1	OMIM:619483
HP:0000005	Mode of inheritance	401024	FSIP2	OMIM:618153
HP:0000005	Mode of inheritance	200931	SLC51A	OMIM:619484
HP:0000005	Mode of inheritance	9508	ADAMTS3	OMIM:618154
HP:0000005	Mode of inheritance	4617	MYF5	OMIM:618155
HP:0000005	Mode of inheritance	134353	LSM11	OMIM:619486
HP:0000005	Mode of inheritance	7297	TYK2	OMIM:611521
HP:0000005	Mode of inheritance	54977	SLC25A38	OMIM:205950
HP:0000005	Mode of inheritance	57038	RARS2	OMIM:611523
HP:0000005	Mode of inheritance	50485	SMARCAL1	OMIM:242900
HP:0000005	Mode of inheritance	4645	MYO5B	OMIM:251850
HP:0000005	Mode of inheritance	4645	MYO5B	OMIM:619868
HP:0000005	Mode of inheritance	55599	RNPC3	OMIM:618160
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:600791
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:612780
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:274600
HP:0000005	Mode of inheritance	2299	FOXI1	OMIM:600791
HP:0000005	Mode of inheritance	2299	FOXI1	OMIM:274600
HP:0000005	Mode of inheritance	5172	SLC26A4	OMIM:600791
HP:0000005	Mode of inheritance	5172	SLC26A4	OMIM:274600
HP:0000005	Mode of inheritance	403	ARL3	OMIM:618161
HP:0000005	Mode of inheritance	57158	JPH2	OMIM:619492
HP:0000005	Mode of inheritance	23387	SIK3	OMIM:618162
HP:0000005	Mode of inheritance	80267	EDEM3	OMIM:619493
HP:0000005	Mode of inheritance	50515	CHST11	OMIM:618167
HP:0000005	Mode of inheritance	7482	WNT2B	OMIM:618168
HP:0000005	Mode of inheritance	4256	MGP	OMIM:245150
HP:0000005	Mode of inheritance	10117	ENAM	OMIM:204650
HP:0000005	Mode of inheritance	875	CBS	OMIM:236200
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:610204
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:277470
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:225753
HP:0000005	Mode of inheritance	54936	ADPRS	OMIM:618170
HP:0000005	Mode of inheritance	23279	NUP160	OMIM:618178
HP:0000005	Mode of inheritance	79023	NUP37	OMIM:618179
HP:0000005	Mode of inheritance	118429	ANTXR2	OMIM:228600
HP:0000005	Mode of inheritance	26119	LDLRAP1	OMIM:603813
HP:0000005	Mode of inheritance	1496	CTNNA2	OMIM:618174
HP:0000005	Mode of inheritance	79902	NUP85	OMIM:618176
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:610212
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:616217
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:617394
HP:0000005	Mode of inheritance	6559	SLC12A3	OMIM:263800
HP:0000005	Mode of inheritance	1414	CRYBB1	OMIM:611544
HP:0000005	Mode of inheritance	284111	SLC13A5	OMIM:615905
HP:0000005	Mode of inheritance	1829	DSG2	OMIM:612877
HP:0000005	Mode of inheritance	2760	GM2A	OMIM:272750
HP:0000005	Mode of inheritance	85016	CFAP300	OMIM:618063
HP:0000005	Mode of inheritance	8323	FZD6	OMIM:161050
HP:0000005	Mode of inheritance	5393	EXOSC9	OMIM:618065
HP:0000005	Mode of inheritance	27178	IL37	OMIM:619398
HP:0000005	Mode of inheritance	10312	TCIRG1	OMIM:259700
HP:0000005	Mode of inheritance	730	C7	OMIM:610102
HP:0000005	Mode of inheritance	79083	MLPH	OMIM:609227
HP:0000005	Mode of inheritance	5352	PLOD2	OMIM:609220
HP:0000005	Mode of inheritance	146167	SLC38A8	OMIM:609218
HP:0000005	Mode of inheritance	57222	ERGIC1	OMIM:208100
HP:0000005	Mode of inheritance	51506	UFC1	OMIM:618076
HP:0000005	Mode of inheritance	8754	ADAM9	OMIM:612775
HP:0000005	Mode of inheritance	80055	PGAP1	OMIM:615802
HP:0000005	Mode of inheritance	10978	CLP1	OMIM:615803
HP:0000005	Mode of inheritance	271	AMPD2	OMIM:615809
HP:0000005	Mode of inheritance	271	AMPD2	OMIM:615686
HP:0000005	Mode of inheritance	1763	DNA2	OMIM:615807
HP:0000005	Mode of inheritance	525	ATP6V1B1	OMIM:267300
HP:0000005	Mode of inheritance	388698	FLG2	OMIM:618084
HP:0000005	Mode of inheritance	3043	HBB	OMIM:603903
HP:0000005	Mode of inheritance	57697	FANCM	OMIM:618086
HP:0000005	Mode of inheritance	57697	FANCM	OMIM:618096
HP:0000005	Mode of inheritance	84876	ORAI1	OMIM:612782
HP:0000005	Mode of inheritance	220074	LRTOMT	OMIM:611451
HP:0000005	Mode of inheritance	6261	RYR1	OMIM:255320
HP:0000005	Mode of inheritance	6261	RYR1	OMIM:117000
HP:0000005	Mode of inheritance	3988	LIPA	OMIM:278000
HP:0000005	Mode of inheritance	2688	GH1	OMIM:612781
HP:0000005	Mode of inheritance	2688	GH1	OMIM:262400
HP:0000005	Mode of inheritance	2688	GH1	OMIM:262650
HP:0000005	Mode of inheritance	6786	STIM1	OMIM:612783
HP:0000005	Mode of inheritance	26504	CNNM4	OMIM:217080
HP:0000005	Mode of inheritance	5238	PGM3	OMIM:615816
HP:0000005	Mode of inheritance	1509	CTSD	OMIM:610127
HP:0000005	Mode of inheritance	23325	WASHC4	OMIM:615817
HP:0000005	Mode of inheritance	2645	GCK	OMIM:606176
HP:0000005	Mode of inheritance	1690	COCH	OMIM:618094
HP:0000005	Mode of inheritance	815	CAMK2A	OMIM:618095
HP:0000005	Mode of inheritance	80856	LNPK	OMIM:618090
HP:0000005	Mode of inheritance	6691	SPINK2	OMIM:618091
HP:0000005	Mode of inheritance	7156	TOP3A	OMIM:618097
HP:0000005	Mode of inheritance	7156	TOP3A	OMIM:618098
HP:0000005	Mode of inheritance	84300	UQCC2	OMIM:615824
HP:0000005	Mode of inheritance	113235	SLC46A1	OMIM:229050
HP:0000005	Mode of inheritance	4607	MYBPC3	OMIM:115197
HP:0000005	Mode of inheritance	3035	HARS1	OMIM:614504
HP:0000005	Mode of inheritance	79753	SNIP1	OMIM:614501
HP:0000005	Mode of inheritance	25977	NECAP1	OMIM:615833
HP:0000005	Mode of inheritance	90624	LYRM7	OMIM:615838
HP:0000005	Mode of inheritance	1650	DDOST	OMIM:614507
HP:0000005	Mode of inheritance	643226	GRXCR2	OMIM:615837
HP:0000005	Mode of inheritance	80704	SLC19A3	OMIM:607483
HP:0000005	Mode of inheritance	4036	LRP2	OMIM:222448
HP:0000005	Mode of inheritance	6875	TAF4B	OMIM:615841
HP:0000005	Mode of inheritance	84225	ZMYND15	OMIM:615842
HP:0000005	Mode of inheritance	153562	MARVELD2	OMIM:610153
HP:0000005	Mode of inheritance	107	ADCY1	OMIM:610154
HP:0000005	Mode of inheritance	5627	PROS1	OMIM:614514
HP:0000005	Mode of inheritance	5340	PLG	OMIM:217090
HP:0000005	Mode of inheritance	1910	EDNRB	OMIM:277580
HP:0000005	Mode of inheritance	1910	EDNRB	OMIM:600501
HP:0000005	Mode of inheritance	866	SERPINA6	OMIM:611489
HP:0000005	Mode of inheritance	2488	FSHB	OMIM:229070
HP:0000005	Mode of inheritance	137814	NKX2-6	OMIM:217095
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:217095
HP:0000005	Mode of inheritance	6899	TBX1	OMIM:217095
HP:0000005	Mode of inheritance	2627	GATA6	OMIM:217095
HP:0000005	Mode of inheritance	760	CA2	OMIM:259730
HP:0000005	Mode of inheritance	79001	VKORC1	OMIM:607473
HP:0000005	Mode of inheritance	8813	DPM1	OMIM:608799
HP:0000005	Mode of inheritance	2121	EVC	OMIM:225500
HP:0000005	Mode of inheritance	132884	EVC2	OMIM:225500
HP:0000005	Mode of inheritance	1186	CLCN7	OMIM:611490
HP:0000005	Mode of inheritance	9652	SKIC3	OMIM:222470
HP:0000005	Mode of inheritance	919	CD247	OMIM:610163
HP:0000005	Mode of inheritance	9842	PLEKHM1	OMIM:611497
HP:0000005	Mode of inheritance	55275	VPS53	OMIM:615851
HP:0000005	Mode of inheritance	84662	GLIS2	OMIM:611498
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:614524
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:215150
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:609706
HP:0000005	Mode of inheritance	85440	DOCK7	OMIM:615859
HP:0000005	Mode of inheritance	28962	OSTM1	OMIM:259720
HP:0000005	Mode of inheritance	23093	TTLL5	OMIM:615860
HP:0000005	Mode of inheritance	8694	DGAT1	OMIM:615863
HP:0000005	Mode of inheritance	2013	EMP2	OMIM:615861
HP:0000005	Mode of inheritance	51134	CEP83	OMIM:615862
HP:0000005	Mode of inheritance	3679	ITGA7	OMIM:613204
HP:0000005	Mode of inheritance	54704	PDP1	OMIM:608782
HP:0000005	Mode of inheritance	6524	SLC5A2	OMIM:233100
HP:0000005	Mode of inheritance	8600	TNFSF11	OMIM:259710
HP:0000005	Mode of inheritance	6708	SPTA1	OMIM:270970
HP:0000005	Mode of inheritance	6708	SPTA1	OMIM:266140
HP:0000005	Mode of inheritance	91949	COG7	OMIM:608779
HP:0000005	Mode of inheritance	79621	RNASEH2B	OMIM:610181
HP:0000005	Mode of inheritance	256764	WDR72	OMIM:613211
HP:0000005	Mode of inheritance	124997	WDR81	OMIM:610185
HP:0000005	Mode of inheritance	124997	WDR81	OMIM:617967
HP:0000005	Mode of inheritance	5648	MASP1	OMIM:257920
HP:0000005	Mode of inheritance	10309	CCNO	OMIM:615872
HP:0000005	Mode of inheritance	117581	TWIST2	OMIM:227260
HP:0000005	Mode of inheritance	9414	TJP2	OMIM:615878
HP:0000005	Mode of inheritance	9414	TJP2	OMIM:607748
HP:0000005	Mode of inheritance	4072	EPCAM	OMIM:613217
HP:0000005	Mode of inheritance	4308	TRPM1	OMIM:613216
HP:0000005	Mode of inheritance	10586	MAB21L2	OMIM:615877
HP:0000005	Mode of inheritance	79796	ALG9	OMIM:608776
HP:0000005	Mode of inheritance	79796	ALG9	OMIM:263210
HP:0000005	Mode of inheritance	3718	JAK3	OMIM:600802
HP:0000005	Mode of inheritance	7306	TYRP1	OMIM:203290
HP:0000005	Mode of inheritance	5244	ABCB4	OMIM:600803
HP:0000005	Mode of inheritance	5244	ABCB4	OMIM:602347
HP:0000005	Mode of inheritance	5244	ABCB4	OMIM:614972
HP:0000005	Mode of inheritance	6652	SORD	OMIM:618912
HP:0000005	Mode of inheritance	131118	DNAJC19	OMIM:610198
HP:0000005	Mode of inheritance	83479	DDX59	OMIM:174300
HP:0000005	Mode of inheritance	169792	GLIS3	OMIM:610199
HP:0000005	Mode of inheritance	57505	AARS2	OMIM:615889
HP:0000005	Mode of inheritance	57505	AARS2	OMIM:614096
HP:0000005	Mode of inheritance	2162	F13A1	OMIM:613225
HP:0000005	Mode of inheritance	50	ACO2	OMIM:614559
HP:0000005	Mode of inheritance	50	ACO2	OMIM:616289
HP:0000005	Mode of inheritance	55152	DALRD3	OMIM:618910
HP:0000005	Mode of inheritance	123041	SLC24A4	OMIM:615887
HP:0000005	Mode of inheritance	55033	FKBP14	OMIM:614557
HP:0000005	Mode of inheritance	767	CA8	OMIM:613227
HP:0000005	Mode of inheritance	10235	RASGRP2	OMIM:615888
HP:0000005	Mode of inheritance	727676	SNORD118	OMIM:614561
HP:0000005	Mode of inheritance	440435	GPR179	OMIM:614565
HP:0000005	Mode of inheritance	1503	CTPS1	OMIM:615897
HP:0000005	Mode of inheritance	2165	F13B	OMIM:613235
HP:0000005	Mode of inheritance	10616	RBCK1	OMIM:615895
HP:0000005	Mode of inheritance	5837	PYGM	OMIM:232600
HP:0000005	Mode of inheritance	2917	GRM7	OMIM:618922
HP:0000005	Mode of inheritance	4634	MYL3	OMIM:608751
HP:0000005	Mode of inheritance	4361	MRE11	OMIM:604391
HP:0000005	Mode of inheritance	55764	IFT122	OMIM:218330
HP:0000005	Mode of inheritance	717	C2	OMIM:217000
HP:0000005	Mode of inheritance	51185	CRBN	OMIM:607417
HP:0000005	Mode of inheritance	3479	IGF1	OMIM:608747
HP:0000005	Mode of inheritance	57511	COG6	OMIM:614576
HP:0000005	Mode of inheritance	57511	COG6	OMIM:615328
HP:0000005	Mode of inheritance	79415	CYBC1	OMIM:618935
HP:0000005	Mode of inheritance	149461	CLDN19	OMIM:248190
HP:0000005	Mode of inheritance	5981	RFC1	OMIM:614575
HP:0000005	Mode of inheritance	29980	DONSON	OMIM:617604
HP:0000005	Mode of inheritance	29980	DONSON	OMIM:251230
HP:0000005	Mode of inheritance	9863	MAGI2	OMIM:617609
HP:0000005	Mode of inheritance	9997	SCO2	OMIM:604377
HP:0000005	Mode of inheritance	200879	LIPH	OMIM:604379
HP:0000005	Mode of inheritance	11222	MRPL3	OMIM:614582
HP:0000005	Mode of inheritance	81689	ISCA1	OMIM:617613
HP:0000005	Mode of inheritance	2517	FUCA1	OMIM:230000
HP:0000005	Mode of inheritance	5333	PLCD1	OMIM:151600
HP:0000005	Mode of inheritance	199221	DZIP1L	OMIM:617610
HP:0000005	Mode of inheritance	55329	MNS1	OMIM:618948
HP:0000005	Mode of inheritance	219285	SAMD9L	OMIM:252270
HP:0000005	Mode of inheritance	3570	IL6R	OMIM:618944
HP:0000005	Mode of inheritance	1890	TYMP	OMIM:603041
HP:0000005	Mode of inheritance	4148	MATN3	OMIM:608728
HP:0000005	Mode of inheritance	26503	SLC17A5	OMIM:604369
HP:0000005	Mode of inheritance	26503	SLC17A5	OMIM:269920
HP:0000005	Mode of inheritance	55617	TASP1	OMIM:618950
HP:0000005	Mode of inheritance	6182	MRPL12	OMIM:618951
HP:0000005	Mode of inheritance	1908	EDN3	OMIM:613265
HP:0000005	Mode of inheritance	3098	HK1	OMIM:235700
HP:0000005	Mode of inheritance	3098	HK1	OMIM:605285
HP:0000005	Mode of inheritance	28957	MRPS28	OMIM:618958
HP:0000005	Mode of inheritance	80210	ARMC9	OMIM:617622
HP:0000005	Mode of inheritance	4190	MDH1	OMIM:618959
HP:0000005	Mode of inheritance	51649	MRPS23	OMIM:618952
HP:0000005	Mode of inheritance	8292	COLQ	OMIM:603034
HP:0000005	Mode of inheritance	113246	C12orf57	OMIM:218340
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:604360
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:602099
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:616668
HP:0000005	Mode of inheritance	259266	ASPM	OMIM:608716
HP:0000005	Mode of inheritance	5331	PLCB3	OMIM:618961
HP:0000005	Mode of inheritance	7515	XRCC1	OMIM:617633
HP:0000005	Mode of inheritance	23558	WBP2	OMIM:617639
HP:0000005	Mode of inheritance	3458	IFNG	OMIM:618963
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:616307
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614378
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614376
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614377
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:619867
HP:0000005	Mode of inheritance	64787	EPS8L2	OMIM:617637
HP:0000005	Mode of inheritance	5205	ATP8B1	OMIM:243300
HP:0000005	Mode of inheritance	5205	ATP8B1	OMIM:211600
HP:0000005	Mode of inheritance	1832	DSP	OMIM:605676
HP:0000005	Mode of inheritance	1832	DSP	OMIM:609638
HP:0000005	Mode of inheritance	9699	RIMS2	OMIM:618970
HP:0000005	Mode of inheritance	55532	SLC30A10	OMIM:613280
HP:0000005	Mode of inheritance	1468	SLC25A10	OMIM:618972
HP:0000005	Mode of inheritance	8884	SLC5A6	OMIM:618973
HP:0000005	Mode of inheritance	8884	SLC5A6	OMIM:619903
HP:0000005	Mode of inheritance	23288	IQCE	OMIM:617642
HP:0000005	Mode of inheritance	389207	GRXCR1	OMIM:613285
HP:0000005	Mode of inheritance	1140	CHRNB1	OMIM:616314
HP:0000005	Mode of inheritance	676	BRDT	OMIM:617644
HP:0000005	Mode of inheritance	3778	KCNMA1	OMIM:617643
HP:0000005	Mode of inheritance	4654	MYOD1	OMIM:618975
HP:0000005	Mode of inheritance	1409	CRYAA	OMIM:604219
HP:0000005	Mode of inheritance	29899	GPSM2	OMIM:604213
HP:0000005	Mode of inheritance	104	ADARB1	OMIM:618862
HP:0000005	Mode of inheritance	91452	ACBD5	OMIM:618863
HP:0000005	Mode of inheritance	151648	SGO1	OMIM:616201
HP:0000005	Mode of inheritance	50651	SLC45A1	OMIM:617532
HP:0000005	Mode of inheritance	83932	SPRTN	OMIM:616200
HP:0000005	Mode of inheritance	8029	CUBN	OMIM:261100
HP:0000005	Mode of inheritance	8029	CUBN	OMIM:618884
HP:0000005	Mode of inheritance	23446	SLC44A1	OMIM:618868
HP:0000005	Mode of inheritance	2895	GRID2	OMIM:616204
HP:0000005	Mode of inheritance	8425	LTBP4	OMIM:613177
HP:0000005	Mode of inheritance	2972	BRF1	OMIM:616202
HP:0000005	Mode of inheritance	4860	PNP	OMIM:613179
HP:0000005	Mode of inheritance	64220	STRA6	OMIM:601186
HP:0000005	Mode of inheritance	249	ALPL	OMIM:241500
HP:0000005	Mode of inheritance	249	ALPL	OMIM:241510
HP:0000005	Mode of inheritance	249	ALPL	OMIM:146300
HP:0000005	Mode of inheritance	10300	KATNB1	OMIM:616212
HP:0000005	Mode of inheritance	55790	CSGALNACT1	OMIM:618870
HP:0000005	Mode of inheritance	1723	DHODH	OMIM:263750
HP:0000005	Mode of inheritance	755	CFAP410	OMIM:617547
HP:0000005	Mode of inheritance	755	CFAP410	OMIM:602271
HP:0000005	Mode of inheritance	10026	PIGK	OMIM:618879
HP:0000005	Mode of inheritance	375387	NRROS	OMIM:618875
HP:0000005	Mode of inheritance	84570	COL25A1	OMIM:616219
HP:0000005	Mode of inheritance	1476	CSTB	OMIM:254800
HP:0000005	Mode of inheritance	64175	P3H1	OMIM:610915
HP:0000005	Mode of inheritance	220202	ATOH7	OMIM:221900
HP:0000005	Mode of inheritance	9289	ADGRG1	OMIM:606854
HP:0000005	Mode of inheritance	9289	ADGRG1	OMIM:615752
HP:0000005	Mode of inheritance	81693	AMN	OMIM:618882
HP:0000005	Mode of inheritance	83696	TRAPPC9	OMIM:613192
HP:0000005	Mode of inheritance	9247	GCM2	OMIM:618883
HP:0000005	Mode of inheritance	2590	GALNT2	OMIM:618885
HP:0000005	Mode of inheritance	123872	DNAAF1	OMIM:613193
HP:0000005	Mode of inheritance	170691	ADAMTS17	OMIM:613195
HP:0000005	Mode of inheritance	3694	ITGB6	OMIM:616221
HP:0000005	Mode of inheritance	130589	GALM	OMIM:618881
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:616227
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:619031
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:619036
HP:0000005	Mode of inheritance	9581	PREPL	OMIM:616224
HP:0000005	Mode of inheritance	6773	STAT2	OMIM:618886
HP:0000005	Mode of inheritance	6773	STAT2	OMIM:616636
HP:0000005	Mode of inheritance	90993	CREB3L1	OMIM:616229
HP:0000005	Mode of inheritance	23761	PISD	OMIM:618889
HP:0000005	Mode of inheritance	85365	ALG2	OMIM:616228
HP:0000005	Mode of inheritance	85365	ALG2	OMIM:607906
HP:0000005	Mode of inheritance	21	ABCA3	OMIM:610921
HP:0000005	Mode of inheritance	157680	VPS13B	OMIM:216550
HP:0000005	Mode of inheritance	958	CD40	OMIM:606843
HP:0000005	Mode of inheritance	10715	CERS1	OMIM:616230
HP:0000005	Mode of inheritance	84504	NKX6-2	OMIM:617560
HP:0000005	Mode of inheritance	26284	ERAL1	OMIM:617565
HP:0000005	Mode of inheritance	1301	COL11A1	OMIM:228520
HP:0000005	Mode of inheritance	4174	MCM5	OMIM:617564
HP:0000005	Mode of inheritance	25930	PTPN23	OMIM:618890
HP:0000005	Mode of inheritance	84314	TMEM107	OMIM:617563
HP:0000005	Mode of inheritance	84314	TMEM107	OMIM:617562
HP:0000005	Mode of inheritance	833	CARS1	OMIM:618891
HP:0000005	Mode of inheritance	9723	SEMA3E	OMIM:146110
HP:0000005	Mode of inheritance	558	AXL	OMIM:146110
HP:0000005	Mode of inheritance	2798	GNRHR	OMIM:146110
HP:0000005	Mode of inheritance	2796	GNRH1	OMIM:146110
HP:0000005	Mode of inheritance	2796	GNRH1	OMIM:614841
HP:0000005	Mode of inheritance	10011	SRA1	OMIM:146110
HP:0000005	Mode of inheritance	55717	WDR11	OMIM:146110
HP:0000005	Mode of inheritance	55717	WDR11	OMIM:620237
HP:0000005	Mode of inheritance	8822	FGF17	OMIM:146110
HP:0000005	Mode of inheritance	1848	DUSP6	OMIM:146110
HP:0000005	Mode of inheritance	81848	SPRY4	OMIM:146110
HP:0000005	Mode of inheritance	285025	CCDC141	OMIM:146110
HP:0000005	Mode of inheritance	389549	FEZF1	OMIM:146110
HP:0000005	Mode of inheritance	389549	FEZF1	OMIM:616030
HP:0000005	Mode of inheritance	10861	SLC26A1	OMIM:167030
HP:0000005	Mode of inheritance	10861	SLC26A1	OMIM:620372
HP:0000005	Mode of inheritance	54840	APTX	OMIM:208920
HP:0000005	Mode of inheritance	79731	NARS2	OMIM:616239
HP:0000005	Mode of inheritance	79731	NARS2	OMIM:618434
HP:0000005	Mode of inheritance	6820	SULT2B1	OMIM:617571
HP:0000005	Mode of inheritance	25981	DNAH1	OMIM:617576
HP:0000005	Mode of inheritance	25981	DNAH1	OMIM:617577
HP:0000005	Mode of inheritance	8879	SGPL1	OMIM:617575
HP:0000005	Mode of inheritance	142680	SLC34A3	OMIM:241530
HP:0000005	Mode of inheritance	23461	ABCA5	OMIM:135400
HP:0000005	Mode of inheritance	121214	SDR9C7	OMIM:617574
HP:0000005	Mode of inheritance	100128927	ZBTB42	OMIM:616248
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:170650
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:245010
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:245000
HP:0000005	Mode of inheritance	23474	ETHE1	OMIM:602473
HP:0000005	Mode of inheritance	145258	GSC	OMIM:602471
HP:0000005	Mode of inheritance	6523	SLC5A1	OMIM:606824
HP:0000005	Mode of inheritance	3931	LCAT	OMIM:245900
HP:0000005	Mode of inheritance	3931	LCAT	OMIM:136120
HP:0000005	Mode of inheritance	5971	RELB	OMIM:617585
HP:0000005	Mode of inheritance	9474	ATG5	OMIM:617584
HP:0000005	Mode of inheritance	9928	KIF14	OMIM:616258
HP:0000005	Mode of inheritance	9928	KIF14	OMIM:617914
HP:0000005	Mode of inheritance	256471	MFSD8	OMIM:610951
HP:0000005	Mode of inheritance	256471	MFSD8	OMIM:616170
HP:0000005	Mode of inheritance	57724	EPG5	OMIM:242840
HP:0000005	Mode of inheritance	51651	PTRH2	OMIM:616263
HP:0000005	Mode of inheritance	55779	CFAP44	OMIM:617593
HP:0000005	Mode of inheritance	80217	CFAP43	OMIM:617592
HP:0000005	Mode of inheritance	5692	PSMB4	OMIM:617591
HP:0000005	Mode of inheritance	5698	PSMB9	OMIM:617591
HP:0000005	Mode of inheritance	9319	TRIP13	OMIM:617598
HP:0000005	Mode of inheritance	9319	TRIP13	OMIM:619011
HP:0000005	Mode of inheritance	2954	GSTZ1	OMIM:617596
HP:0000005	Mode of inheritance	64377	CHST8	OMIM:616265
HP:0000005	Mode of inheritance	10463	SLC30A9	OMIM:617595
HP:0000005	Mode of inheritance	388662	SLC6A17	OMIM:616269
HP:0000005	Mode of inheritance	51227	PIGP	OMIM:617599
HP:0000005	Mode of inheritance	64421	DCLRE1C	OMIM:602450
HP:0000005	Mode of inheritance	64421	DCLRE1C	OMIM:603554
HP:0000005	Mode of inheritance	6528	SLC5A5	OMIM:274400
HP:0000005	Mode of inheritance	10195	ALG3	OMIM:601110
HP:0000005	Mode of inheritance	258	AMBN	OMIM:616270
HP:0000005	Mode of inheritance	51645	PPIL1	OMIM:619301
HP:0000005	Mode of inheritance	51362	CDC40	OMIM:619302
HP:0000005	Mode of inheritance	81570	CLPB	OMIM:616271
HP:0000005	Mode of inheritance	5825	ABCD3	OMIM:616278
HP:0000005	Mode of inheritance	1758	DMP1	OMIM:241520
HP:0000005	Mode of inheritance	1892	ECHS1	OMIM:616277
HP:0000005	Mode of inheritance	51117	COQ4	OMIM:616276
HP:0000005	Mode of inheritance	51013	EXOSC1	OMIM:619304
HP:0000005	Mode of inheritance	55770	EXOC2	OMIM:619306
HP:0000005	Mode of inheritance	846	CASR	OMIM:239200
HP:0000005	Mode of inheritance	83893	SPATA16	OMIM:102530
HP:0000005	Mode of inheritance	84706	GPT2	OMIM:616281
HP:0000005	Mode of inheritance	4547	MTTP	OMIM:200100
HP:0000005	Mode of inheritance	55388	MCM10	OMIM:619313
HP:0000005	Mode of inheritance	3691	ITGB4	OMIM:226730
HP:0000005	Mode of inheritance	3691	ITGB4	OMIM:619816
HP:0000005	Mode of inheritance	5351	PLOD1	OMIM:225400
HP:0000005	Mode of inheritance	112	ADCY6	OMIM:616287
HP:0000005	Mode of inheritance	51728	POLR3K	OMIM:619310
HP:0000005	Mode of inheritance	85476	GFM1	OMIM:609060
HP:0000005	Mode of inheritance	6650	CAPN15	OMIM:619318
HP:0000005	Mode of inheritance	3426	CFI	OMIM:610984
HP:0000005	Mode of inheritance	6548	SLC9A1	OMIM:616291
HP:0000005	Mode of inheritance	831	CAST	OMIM:616295
HP:0000005	Mode of inheritance	23102	TBC1D2B	OMIM:619323
HP:0000005	Mode of inheritance	9871	SEC24D	OMIM:616294
HP:0000005	Mode of inheritance	51601	LIPT1	OMIM:616299
HP:0000005	Mode of inheritance	8882	ZPR1	OMIM:619321
HP:0000005	Mode of inheritance	55215	FANCI	OMIM:609053
HP:0000005	Mode of inheritance	1363	CPE	OMIM:619326
HP:0000005	Mode of inheritance	29968	PSAT1	OMIM:610992
HP:0000005	Mode of inheritance	29968	PSAT1	OMIM:616038
HP:0000005	Mode of inheritance	977	CD151	OMIM:609057
HP:0000005	Mode of inheritance	8869	ST3GAL5	OMIM:609056
HP:0000005	Mode of inheritance	4166	CHST6	OMIM:217800
HP:0000005	Mode of inheritance	25929	GEMIN5	OMIM:619333
HP:0000005	Mode of inheritance	4703	NEB	OMIM:619334
HP:0000005	Mode of inheritance	4703	NEB	OMIM:256030
HP:0000005	Mode of inheritance	2530	FUT8	OMIM:618005
HP:0000005	Mode of inheritance	34	ACADM	OMIM:201450
HP:0000005	Mode of inheritance	79641	ROGDI	OMIM:226750
HP:0000005	Mode of inheritance	165	AEBP1	OMIM:618000
HP:0000005	Mode of inheritance	10082	GPC6	OMIM:258315
HP:0000005	Mode of inheritance	7965	AIMP2	OMIM:618006
HP:0000005	Mode of inheritance	1147	CHUK	OMIM:619339
HP:0000005	Mode of inheritance	1147	CHUK	OMIM:613630
HP:0000005	Mode of inheritance	10157	AASS	OMIM:238700
HP:0000005	Mode of inheritance	3913	LAMB2	OMIM:609049
HP:0000005	Mode of inheritance	3913	LAMB2	OMIM:614199
HP:0000005	Mode of inheritance	6491	STIL	OMIM:612703
HP:0000005	Mode of inheritance	6768	ST14	OMIM:602400
HP:0000005	Mode of inheritance	9509	ADAMTS2	OMIM:225410
HP:0000005	Mode of inheritance	54845	ESRP1	OMIM:618013
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:208085
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:620009
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:620010
HP:0000005	Mode of inheritance	2661	GDF9	OMIM:618014
HP:0000005	Mode of inheritance	26175	LYSET	OMIM:619345
HP:0000005	Mode of inheritance	5283	PIGH	OMIM:618010
HP:0000005	Mode of inheritance	84896	ATAD1	OMIM:618011
HP:0000005	Mode of inheritance	3930	LBR	OMIM:618019
HP:0000005	Mode of inheritance	79644	SRD5A3	OMIM:612713
HP:0000005	Mode of inheritance	79644	SRD5A3	OMIM:612379
HP:0000005	Mode of inheritance	145226	RDH12	OMIM:612712
HP:0000005	Mode of inheritance	84701	COX4I2	OMIM:612714
HP:0000005	Mode of inheritance	6697	SPR	OMIM:612716
HP:0000005	Mode of inheritance	28982	FLVCR1	OMIM:609033
HP:0000005	Mode of inheritance	2628	GATM	OMIM:612718
HP:0000005	Mode of inheritance	51241	COX16	OMIM:619355
HP:0000005	Mode of inheritance	3795	KHK	OMIM:229800
HP:0000005	Mode of inheritance	37	ACADVL	OMIM:201475
HP:0000005	Mode of inheritance	5281	PIGF	OMIM:619356
HP:0000005	Mode of inheritance	4629	MYH11	OMIM:619351
HP:0000005	Mode of inheritance	340419	RSPO2	OMIM:618021
HP:0000005	Mode of inheritance	340419	RSPO2	OMIM:618022
HP:0000005	Mode of inheritance	35	ACADS	OMIM:201470
HP:0000005	Mode of inheritance	5702	PSMC3	OMIM:619354
HP:0000005	Mode of inheritance	788	SLC25A20	OMIM:212138
HP:0000005	Mode of inheritance	5019	OXCT1	OMIM:245050
HP:0000005	Mode of inheritance	10283	CWC27	OMIM:250410
HP:0000005	Mode of inheritance	10483	SEC23B	OMIM:224100
HP:0000005	Mode of inheritance	285590	SH3PXD2B	OMIM:249420
HP:0000005	Mode of inheritance	25802	LMOD1	OMIM:619362
HP:0000005	Mode of inheritance	23230	VPS13A	OMIM:200150
HP:0000005	Mode of inheritance	10398	MYL9	OMIM:619365
HP:0000005	Mode of inheritance	539	ATP5PO	OMIM:620359
HP:0000005	Mode of inheritance	3030	HADHA	OMIM:609015
HP:0000005	Mode of inheritance	3030	HADHA	OMIM:609016
HP:0000005	Mode of inheritance	2593	GAMT	OMIM:612736
HP:0000005	Mode of inheritance	4322	MMP13	OMIM:250400
HP:0000005	Mode of inheritance	1759	DNM1	OMIM:620352
HP:0000005	Mode of inheritance	6123	RPL3L	OMIM:619371
HP:0000005	Mode of inheritance	55898	UNC45A	OMIM:619377
HP:0000005	Mode of inheritance	7390	UROS	OMIM:263700
HP:0000005	Mode of inheritance	375307	CATIP	OMIM:619379
HP:0000005	Mode of inheritance	6571	SLC18A2	OMIM:618049
HP:0000005	Mode of inheritance	3937	LCP2	OMIM:619374
HP:0000005	Mode of inheritance	210	ALAD	OMIM:612740
HP:0000005	Mode of inheritance	4948	OCA2	OMIM:203200
HP:0000005	Mode of inheritance	4157	MC1R	OMIM:203200
HP:0000005	Mode of inheritance	83715	ESPN	OMIM:609006
HP:0000005	Mode of inheritance	83715	ESPN	OMIM:618632
HP:0000005	Mode of inheritance	6522	SLC4A2	OMIM:620366
HP:0000005	Mode of inheritance	200162	SPAG17	OMIM:619380
HP:0000005	Mode of inheritance	84277	DNAJC30	OMIM:619382
HP:0000005	Mode of inheritance	57538	ALPK3	OMIM:618052
HP:0000005	Mode of inheritance	129285	PPP1R21	OMIM:619383
HP:0000005	Mode of inheritance	6913	TBX15	OMIM:260660
HP:0000005	Mode of inheritance	27072	VPS41	OMIM:619389
HP:0000005	Mode of inheritance	341208	HEPHL1	OMIM:261990
HP:0000005	Mode of inheritance	9054	NFS1	OMIM:619386
HP:0000005	Mode of inheritance	146059	CDAN1	OMIM:224120
HP:0000005	Mode of inheritance	221927	BRAT1	OMIM:618056
HP:0000005	Mode of inheritance	221927	BRAT1	OMIM:614498
HP:0000005	Mode of inheritance	6584	SLC22A5	OMIM:212140
HP:0000005	Mode of inheritance	4702	NDUFA8	OMIM:619272
HP:0000005	Mode of inheritance	158	ADSL	OMIM:103050
HP:0000005	Mode of inheritance	81555	YIPF5	OMIM:619278
HP:0000005	Mode of inheritance	347734	SLC35B2	OMIM:620269
HP:0000005	Mode of inheritance	345895	RSPH4A	OMIM:612649
HP:0000005	Mode of inheritance	4758	NEU1	OMIM:256550
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:200990
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:607131
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:614120
HP:0000005	Mode of inheritance	9442	MED27	OMIM:619286
HP:0000005	Mode of inheritance	221421	RSPH9	OMIM:612650
HP:0000005	Mode of inheritance	5176	SERPINF1	OMIM:613982
HP:0000005	Mode of inheritance	84140	FAM161A	OMIM:606068
HP:0000005	Mode of inheritance	56246	MRAP	OMIM:607398
HP:0000005	Mode of inheritance	55135	WRAP53	OMIM:613988
HP:0000005	Mode of inheritance	5476	CTSA	OMIM:256540
HP:0000005	Mode of inheritance	51324	SPG21	OMIM:248900
HP:0000005	Mode of inheritance	2533	FYB1	OMIM:273900
HP:0000005	Mode of inheritance	2642	GCGR	OMIM:619290
HP:0000005	Mode of inheritance	274	BIN1	OMIM:255200
HP:0000005	Mode of inheritance	36	ACADSB	OMIM:610006
HP:0000005	Mode of inheritance	7841	MOGS	OMIM:606056
HP:0000005	Mode of inheritance	5095	PCCA	OMIM:606054
HP:0000005	Mode of inheritance	5096	PCCB	OMIM:606054
HP:0000005	Mode of inheritance	7466	WFS1	OMIM:222300
HP:0000005	Mode of inheritance	26090	ABHD12	OMIM:612674
HP:0000005	Mode of inheritance	84984	CEP19	OMIM:615703
HP:0000005	Mode of inheritance	4338	MOCS2	OMIM:252160
HP:0000005	Mode of inheritance	2752	GLUL	OMIM:610015
HP:0000005	Mode of inheritance	1906	EDN1	OMIM:615706
HP:0000005	Mode of inheritance	2214	FCGR3A	OMIM:615707
HP:0000005	Mode of inheritance	79443	FYCO1	OMIM:610019
HP:0000005	Mode of inheritance	9711	RUBCN	OMIM:615705
HP:0000005	Mode of inheritance	26227	PHGDH	OMIM:256520
HP:0000005	Mode of inheritance	26227	PHGDH	OMIM:601815
HP:0000005	Mode of inheritance	6862	TBXT	OMIM:615709
HP:0000005	Mode of inheritance	2677	GGCX	OMIM:277450
HP:0000005	Mode of inheritance	2677	GGCX	OMIM:610842
HP:0000005	Mode of inheritance	222546	RFX6	OMIM:615710
HP:0000005	Mode of inheritance	9255	AIMP1	OMIM:260600
HP:0000005	Mode of inheritance	5149	PDE6H	OMIM:610024
HP:0000005	Mode of inheritance	375748	ERCC6L2	OMIM:615715
HP:0000005	Mode of inheritance	93210	PGAP3	OMIM:615716
HP:0000005	Mode of inheritance	1188	CLCNKB	OMIM:607364
HP:0000005	Mode of inheritance	728294	D2HGDH	OMIM:600721
HP:0000005	Mode of inheritance	9095	TBX19	OMIM:201400
HP:0000005	Mode of inheritance	2038	EPB42	OMIM:612690
HP:0000005	Mode of inheritance	974	CD79B	OMIM:612692
HP:0000005	Mode of inheritance	26281	FGF20	OMIM:615721
HP:0000005	Mode of inheritance	164045	HFM1	OMIM:615724
HP:0000005	Mode of inheritance	57709	SLC7A14	OMIM:615725
HP:0000005	Mode of inheritance	1811	SLC26A3	OMIM:214700
HP:0000005	Mode of inheritance	23396	PIP5K1C	OMIM:611369
HP:0000005	Mode of inheritance	7274	TTPA	OMIM:277460
HP:0000005	Mode of inheritance	471	ATIC	OMIM:608688
HP:0000005	Mode of inheritance	81031	SLC2A10	OMIM:208050
HP:0000005	Mode of inheritance	10324	KLHL41	OMIM:615731
HP:0000005	Mode of inheritance	26047	CNTNAP2	OMIM:610042
HP:0000005	Mode of inheritance	5885	RAD21	OMIM:611376
HP:0000005	Mode of inheritance	11023	VAX1	OMIM:614402
HP:0000005	Mode of inheritance	57704	GBA2	OMIM:614409
HP:0000005	Mode of inheritance	710	SERPING1	OMIM:106100
HP:0000005	Mode of inheritance	4313	MMP2	OMIM:259600
HP:0000005	Mode of inheritance	285440	CYP4V2	OMIM:210370
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:226700
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:619785
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:619786
HP:0000005	Mode of inheritance	25861	WHRN	OMIM:611383
HP:0000005	Mode of inheritance	25861	WHRN	OMIM:607084
HP:0000005	Mode of inheritance	56603	CYP26B1	OMIM:614416
HP:0000005	Mode of inheritance	4878	NPPA	OMIM:615745
HP:0000005	Mode of inheritance	23064	SETX	OMIM:606002
HP:0000005	Mode of inheritance	57094	CPA6	OMIM:614417
HP:0000005	Mode of inheritance	57094	CPA6	OMIM:614418
HP:0000005	Mode of inheritance	6888	TALDO1	OMIM:606003
HP:0000005	Mode of inheritance	6309	SC5D	OMIM:607330
HP:0000005	Mode of inheritance	54808	DYM	OMIM:607326
HP:0000005	Mode of inheritance	54808	DYM	OMIM:223800
HP:0000005	Mode of inheritance	2982	GUCY1A1	OMIM:615750
HP:0000005	Mode of inheritance	631	BFSP1	OMIM:611391
HP:0000005	Mode of inheritance	1356	CP	OMIM:604290
HP:0000005	Mode of inheritance	1643	DDB2	OMIM:278740
HP:0000005	Mode of inheritance	1776	DNASE1L3	OMIM:614420
HP:0000005	Mode of inheritance	763	CA5A	OMIM:615751
HP:0000005	Mode of inheritance	3932	LCK	OMIM:615758
HP:0000005	Mode of inheritance	65062	TMEM237	OMIM:614424
HP:0000005	Mode of inheritance	4803	NGF	OMIM:608654
HP:0000005	Mode of inheritance	8556	CDC14A	OMIM:608653
HP:0000005	Mode of inheritance	27249	MMADHC	OMIM:277410
HP:0000005	Mode of inheritance	4173	MCM4	OMIM:609981
HP:0000005	Mode of inheritance	10999	SLC27A4	OMIM:608649
HP:0000005	Mode of inheritance	54768	HYDIN	OMIM:608647
HP:0000005	Mode of inheritance	55187	VPS13D	OMIM:607317
HP:0000005	Mode of inheritance	5859	QARS1	OMIM:615760
HP:0000005	Mode of inheritance	164656	TMPRSS6	OMIM:206200
HP:0000005	Mode of inheritance	6813	STXBP2	OMIM:613101
HP:0000005	Mode of inheritance	5429	POLH	OMIM:278750
HP:0000005	Mode of inheritance	1825	DSC3	OMIM:613102
HP:0000005	Mode of inheritance	30008	EFEMP2	OMIM:614437
HP:0000005	Mode of inheritance	10273	STUB1	OMIM:615768
HP:0000005	Mode of inheritance	59067	IL21	OMIM:615767
HP:0000005	Mode of inheritance	1644	DDC	OMIM:608643
HP:0000005	Mode of inheritance	6443	SGCB	OMIM:604286
HP:0000005	Mode of inheritance	64581	CLEC7A	OMIM:613108
HP:0000005	Mode of inheritance	1767	DNAH5	OMIM:608644
HP:0000005	Mode of inheritance	3033	HADH	OMIM:609975
HP:0000005	Mode of inheritance	3033	HADH	OMIM:231530
HP:0000005	Mode of inheritance	64221	ROBO3	OMIM:607313
HP:0000005	Mode of inheritance	8671	SLC4A4	OMIM:604278
HP:0000005	Mode of inheritance	6578	SLCO2A1	OMIM:614441
HP:0000005	Mode of inheritance	9631	NUP155	OMIM:615770
HP:0000005	Mode of inheritance	79572	ATP13A3	OMIM:265400
HP:0000005	Mode of inheritance	23511	NUP188	OMIM:618804
HP:0000005	Mode of inheritance	26007	TKFC	OMIM:618805
HP:0000005	Mode of inheritance	22917	ZP1	OMIM:615774
HP:0000005	Mode of inheritance	54974	THG1L	OMIM:618800
HP:0000005	Mode of inheritance	462	SERPINC1	OMIM:613118
HP:0000005	Mode of inheritance	54970	TTC12	OMIM:618801
HP:0000005	Mode of inheritance	20	ABCA2	OMIM:618808
HP:0000005	Mode of inheritance	91647	ATPAF2	OMIM:604273
HP:0000005	Mode of inheritance	54806	AHI1	OMIM:608629
HP:0000005	Mode of inheritance	9420	CYP7B1	OMIM:270800
HP:0000005	Mode of inheritance	9420	CYP7B1	OMIM:613812
HP:0000005	Mode of inheritance	55163	PNPO	OMIM:610090
HP:0000005	Mode of inheritance	338917	VSX2	OMIM:610092
HP:0000005	Mode of inheritance	338917	VSX2	OMIM:610093
HP:0000005	Mode of inheritance	55857	KIZ	OMIM:615780
HP:0000005	Mode of inheritance	7421	VDR	OMIM:277440
HP:0000005	Mode of inheritance	55210	ATAD3A	OMIM:618810
HP:0000005	Mode of inheritance	55210	ATAD3A	OMIM:617183
HP:0000005	Mode of inheritance	89874	SLC25A21	OMIM:618811
HP:0000005	Mode of inheritance	9419	CRIPT	OMIM:615789
HP:0000005	Mode of inheritance	27010	TPK1	OMIM:614458
HP:0000005	Mode of inheritance	10269	ZMPSTE24	OMIM:608612
HP:0000005	Mode of inheritance	10269	ZMPSTE24	OMIM:275210
HP:0000005	Mode of inheritance	11019	LIAS	OMIM:614462
HP:0000005	Mode of inheritance	58494	JAM2	OMIM:618824
HP:0000005	Mode of inheritance	94137	RP1L1	OMIM:618826
HP:0000005	Mode of inheritance	4337	MOCS1	OMIM:252150
HP:0000005	Mode of inheritance	95681	CEP41	OMIM:614464
HP:0000005	Mode of inheritance	6531	SLC6A3	OMIM:613135
HP:0000005	Mode of inheritance	51524	TMEM138	OMIM:614465
HP:0000005	Mode of inheritance	91461	PKDCC	OMIM:618821
HP:0000005	Mode of inheritance	8087	FXR1	OMIM:618822
HP:0000005	Mode of inheritance	8087	FXR1	OMIM:618823
HP:0000005	Mode of inheritance	22934	RPIA	OMIM:608611
HP:0000005	Mode of inheritance	7036	TFR2	OMIM:604250
HP:0000005	Mode of inheritance	7507	XPA	OMIM:278700
HP:0000005	Mode of inheritance	128178	EDARADD	OMIM:224900
HP:0000005	Mode of inheritance	128178	EDARADD	OMIM:614941
HP:0000005	Mode of inheritance	10913	EDAR	OMIM:224900
HP:0000005	Mode of inheritance	55278	QRSL1	OMIM:618835
HP:0000005	Mode of inheritance	11005	SPINK5	OMIM:256500
HP:0000005	Mode of inheritance	5188	GATB	OMIM:618838
HP:0000005	Mode of inheritance	55704	CCDC88A	OMIM:617507
HP:0000005	Mode of inheritance	3587	IL10RA	OMIM:613148
HP:0000005	Mode of inheritance	283459	GATC	OMIM:618839
HP:0000005	Mode of inheritance	3094	HINT1	OMIM:137200
HP:0000005	Mode of inheritance	95	ACY1	OMIM:609924
HP:0000005	Mode of inheritance	2819	GPD1	OMIM:614480
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613150
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613156
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613158
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:236670
HP:0000005	Mode of inheritance	7018	TF	OMIM:209300
HP:0000005	Mode of inheritance	9197	SLC33A1	OMIM:614482
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:613153
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:606612
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:607155
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:236670
HP:0000005	Mode of inheritance	27040	LAT	OMIM:617514
HP:0000005	Mode of inheritance	57591	MRTFA	OMIM:618847
HP:0000005	Mode of inheritance	64208	POPDC3	OMIM:618848
HP:0000005	Mode of inheritance	10939	AFG3L2	OMIM:614487
HP:0000005	Mode of inheritance	63929	XPNPEP3	OMIM:613159
HP:0000005	Mode of inheritance	55191	NADSYN1	OMIM:618845
HP:0000005	Mode of inheritance	63916	ELMO2	OMIM:606893
HP:0000005	Mode of inheritance	55812	SPATA7	OMIM:604232
HP:0000005	Mode of inheritance	57731	SPTBN4	OMIM:617519
HP:0000005	Mode of inheritance	7508	XPC	OMIM:278720
HP:0000005	Mode of inheritance	23155	CLCC1	OMIM:609913
HP:0000005	Mode of inheritance	587	BCAT2	OMIM:618850
HP:0000005	Mode of inheritance	29928	TIMM22	OMIM:618851
HP:0000005	Mode of inheritance	51733	UPB1	OMIM:613161
HP:0000005	Mode of inheritance	26249	KLHL3	OMIM:614495
HP:0000005	Mode of inheritance	18	ABAT	OMIM:613163
HP:0000005	Mode of inheritance	22978	NT5C2	OMIM:613162
HP:0000005	Mode of inheritance	7456	WIPF1	OMIM:614493
HP:0000005	Mode of inheritance	2815	GP9	OMIM:231200
HP:0000005	Mode of inheritance	2811	GP1BA	OMIM:231200
HP:0000005	Mode of inheritance	2811	GP1BA	OMIM:258660
HP:0000005	Mode of inheritance	2812	GP1BB	OMIM:231200
HP:0000005	Mode of inheritance	8738	CRADD	OMIM:614499
HP:0000005	Mode of inheritance	3630	INS	OMIM:618858
HP:0000005	Mode of inheritance	9181	ARHGEF2	OMIM:617523
HP:0000005	Mode of inheritance	7957	EPM2A	OMIM:254780
HP:0000005	Mode of inheritance	378884	NHLRC1	OMIM:254780
HP:0000005	Mode of inheritance	25871	NEPRO	OMIM:618853
HP:0000005	Mode of inheritance	9373	PLAA	OMIM:617527
HP:0000005	Mode of inheritance	22868	FASTKD2	OMIM:618855
HP:0000005	Mode of inheritance	2531	KDSR	OMIM:617526
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:278730
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:610756
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:601675
HP:0000005	Mode of inheritance	25974	MMACHC	OMIM:277400
HP:0000005	Mode of inheritance	5052	PRDX1	OMIM:277400
HP:0000005	Mode of inheritance	1718	DHCR24	OMIM:602398
HP:0000005	Mode of inheritance	2549	GAB1	OMIM:605428
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:601067
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:609533
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:602083
HP:0000005	Mode of inheritance	51399	TRAPPC4	OMIM:618741
HP:0000005	Mode of inheritance	720	C4A	OMIM:614380
HP:0000005	Mode of inheritance	2304	FOXE1	OMIM:241850
HP:0000005	Mode of inheritance	10059	DNM1L	OMIM:614388
HP:0000005	Mode of inheritance	7360	UGP2	OMIM:618744
HP:0000005	Mode of inheritance	83894	TTC29	OMIM:618745
HP:0000005	Mode of inheritance	148738	HJV	OMIM:602390
HP:0000005	Mode of inheritance	5932	RBBP8	OMIM:606744
HP:0000005	Mode of inheritance	5932	RBBP8	OMIM:251255
HP:0000005	Mode of inheritance	79925	SPEF2	OMIM:618751
HP:0000005	Mode of inheritance	5651	TMPRSS15	OMIM:226200
HP:0000005	Mode of inheritance	2348	FOLR1	OMIM:613068
HP:0000005	Mode of inheritance	2137	EXTL3	OMIM:617425
HP:0000005	Mode of inheritance	5184	PEPD	OMIM:170100
HP:0000005	Mode of inheritance	84466	MEGF10	OMIM:614399
HP:0000005	Mode of inheritance	79158	GNPTAB	OMIM:252500
HP:0000005	Mode of inheritance	79158	GNPTAB	OMIM:252600
HP:0000005	Mode of inheritance	7054	TH	OMIM:605407
HP:0000005	Mode of inheritance	57589	RIC1	OMIM:618761
HP:0000005	Mode of inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000005	Mode of inheritance	4318	MMP9	OMIM:613073
HP:0000005	Mode of inheritance	317662	FAM149B1	OMIM:618763
HP:0000005	Mode of inheritance	1513	CTSK	OMIM:265800
HP:0000005	Mode of inheritance	54453	RIN2	OMIM:613075
HP:0000005	Mode of inheritance	23370	ARHGEF18	OMIM:617433
HP:0000005	Mode of inheritance	6884	TAF13	OMIM:617432
HP:0000005	Mode of inheritance	2671	GFER	OMIM:613076
HP:0000005	Mode of inheritance	125336	LOXHD1	OMIM:613079
HP:0000005	Mode of inheritance	10111	RAD50	OMIM:613078
HP:0000005	Mode of inheritance	3064	HTT	OMIM:617435
HP:0000005	Mode of inheritance	55681	SCYL2	OMIM:618766
HP:0000005	Mode of inheritance	51109	RDH11	OMIM:616108
HP:0000005	Mode of inheritance	85465	SELENOI	OMIM:618768
HP:0000005	Mode of inheritance	1528	CYB5A	OMIM:250790
HP:0000005	Mode of inheritance	8659	ALDH4A1	OMIM:239510
HP:0000005	Mode of inheritance	84733	CBX2	OMIM:613080
HP:0000005	Mode of inheritance	10203	CALCRL	OMIM:618773
HP:0000005	Mode of inheritance	7386	UQCRFS1	OMIM:618775
HP:0000005	Mode of inheritance	23312	DMXL2	OMIM:616113
HP:0000005	Mode of inheritance	23312	DMXL2	OMIM:618663
HP:0000005	Mode of inheritance	2313	FLI1	OMIM:617443
HP:0000005	Mode of inheritance	4439	MSH5	OMIM:617442
HP:0000005	Mode of inheritance	4439	MSH5	OMIM:619937
HP:0000005	Mode of inheritance	5833	PCYT2	OMIM:618770
HP:0000005	Mode of inheritance	790955	UQCC3	OMIM:616111
HP:0000005	Mode of inheritance	80739	MPIG6B	OMIM:617441
HP:0000005	Mode of inheritance	3340	NDST1	OMIM:616116
HP:0000005	Mode of inheritance	284184	NDUFAF8	OMIM:618776
HP:0000005	Mode of inheritance	11081	KERA	OMIM:217300
HP:0000005	Mode of inheritance	11285	B4GALT7	OMIM:130070
HP:0000005	Mode of inheritance	5146	PDE6C	OMIM:613093
HP:0000005	Mode of inheritance	5314	PKHD1	OMIM:263200
HP:0000005	Mode of inheritance	152110	NEK10	OMIM:618781
HP:0000005	Mode of inheritance	51633	OTUD6B	OMIM:617452
HP:0000005	Mode of inheritance	55280	CWF19L1	OMIM:616127
HP:0000005	Mode of inheritance	9636	ISG15	OMIM:616126
HP:0000005	Mode of inheritance	144811	LACC1	OMIM:618795
HP:0000005	Mode of inheritance	253959	RALGAPA1	OMIM:618797
HP:0000005	Mode of inheritance	7358	UGDH	OMIM:618792
HP:0000005	Mode of inheritance	163175	LGI4	OMIM:617468
HP:0000005	Mode of inheritance	200424	TET3	OMIM:618798
HP:0000005	Mode of inheritance	487	ATP2A1	OMIM:601003
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:601001
HP:0000005	Mode of inheritance	5917	RARS1	OMIM:616140
HP:0000005	Mode of inheritance	23483	TGDS	OMIM:616145
HP:0000005	Mode of inheritance	2395	FXN	OMIM:229300
HP:0000005	Mode of inheritance	6603	SMARCD2	OMIM:617475
HP:0000005	Mode of inheritance	54916	TMEM260	OMIM:617478
HP:0000005	Mode of inheritance	79648	MCPH1	OMIM:251200
HP:0000005	Mode of inheritance	58497	PRUNE1	OMIM:617481
HP:0000005	Mode of inheritance	84188	FAR1	OMIM:616154
HP:0000005	Mode of inheritance	3000	GUCY2D	OMIM:204000
HP:0000005	Mode of inheritance	3000	GUCY2D	OMIM:601777
HP:0000005	Mode of inheritance	3000	GUCY2D	OMIM:618555
HP:0000005	Mode of inheritance	51314	NME8	OMIM:610852
HP:0000005	Mode of inheritance	4921	DDR2	OMIM:271665
HP:0000005	Mode of inheritance	56203	LMOD3	OMIM:616165
HP:0000005	Mode of inheritance	3081	HGD	OMIM:203500
HP:0000005	Mode of inheritance	7038	TG	OMIM:274700
HP:0000005	Mode of inheritance	10733	PLK4	OMIM:616171
HP:0000005	Mode of inheritance	55243	KIRREL1	OMIM:619201
HP:0000005	Mode of inheritance	317761	C14orf39	OMIM:619202
HP:0000005	Mode of inheritance	317761	C14orf39	OMIM:619203
HP:0000005	Mode of inheritance	11277	TREX1	OMIM:225750
HP:0000005	Mode of inheritance	5568	PRKACG	OMIM:616176
HP:0000005	Mode of inheritance	64065	PERP	OMIM:619209
HP:0000005	Mode of inheritance	4010	LMX1B	OMIM:256020
HP:0000005	Mode of inheritance	7007	TECTA	OMIM:603629
HP:0000005	Mode of inheritance	254394	MCM9	OMIM:616185
HP:0000005	Mode of inheritance	57007	ACKR3	OMIM:619215
HP:0000005	Mode of inheritance	7275	TUB	OMIM:616188
HP:0000005	Mode of inheritance	64856	VWA1	OMIM:619216
HP:0000005	Mode of inheritance	439	GET3	OMIM:620203
HP:0000005	Mode of inheritance	2019	EN1	OMIM:619218
HP:0000005	Mode of inheritance	1675	CFD	OMIM:613912
HP:0000005	Mode of inheritance	819	CAMLG	OMIM:620201
HP:0000005	Mode of inheritance	51608	GET4	OMIM:620200
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:613916
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:619196
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:619147
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:613641
HP:0000005	Mode of inheritance	56776	FMN2	OMIM:616193
HP:0000005	Mode of inheritance	5611	DNAJC3	OMIM:616192
HP:0000005	Mode of inheritance	1830	DSG3	OMIM:619226
HP:0000005	Mode of inheritance	7174	TPP2	OMIM:619220
HP:0000005	Mode of inheritance	58472	SQOR	OMIM:619221
HP:0000005	Mode of inheritance	2992	GYG1	OMIM:616199
HP:0000005	Mode of inheritance	2992	GYG1	OMIM:613507
HP:0000005	Mode of inheritance	84705	GTPBP3	OMIM:616198
HP:0000005	Mode of inheritance	9101	USP8	OMIM:219090
HP:0000005	Mode of inheritance	6297	SALL2	OMIM:216820
HP:0000005	Mode of inheritance	220296	HEPACAM	OMIM:613925
HP:0000005	Mode of inheritance	220296	HEPACAM	OMIM:604004
HP:0000005	Mode of inheritance	8883	NAE1	OMIM:620210
HP:0000005	Mode of inheritance	55186	SLC25A36	OMIM:620211
HP:0000005	Mode of inheritance	9563	H6PD	OMIM:604931
HP:0000005	Mode of inheritance	84265	POLR3GL	OMIM:619234
HP:0000005	Mode of inheritance	4158	MC2R	OMIM:202200
HP:0000005	Mode of inheritance	2155	F7	OMIM:227500
HP:0000005	Mode of inheritance	570	BAAT	OMIM:619232
HP:0000005	Mode of inheritance	4070	TACSTD2	OMIM:204870
HP:0000005	Mode of inheritance	920	CD4	OMIM:619238
HP:0000005	Mode of inheritance	435	ASL	OMIM:207900
HP:0000005	Mode of inheritance	31	ACACA	OMIM:613933
HP:0000005	Mode of inheritance	3248	HPGD	OMIM:259100
HP:0000005	Mode of inheritance	3248	HPGD	OMIM:119900
HP:0000005	Mode of inheritance	286	ANK1	OMIM:182900
HP:0000005	Mode of inheritance	1041	CDSN	OMIM:270300
HP:0000005	Mode of inheritance	493856	CISD2	OMIM:604928
HP:0000005	Mode of inheritance	11077	HSF2BP	OMIM:619245
HP:0000005	Mode of inheritance	55640	FLVCR2	OMIM:225790
HP:0000005	Mode of inheritance	91875	TTC5	OMIM:619244
HP:0000005	Mode of inheritance	100127206	MINAR2	OMIM:620238
HP:0000005	Mode of inheritance	643418	LIPN	OMIM:613943
HP:0000005	Mode of inheritance	54800	KLHL24	OMIM:620236
HP:0000005	Mode of inheritance	5625	PRODH	OMIM:239500
HP:0000005	Mode of inheritance	10551	AGR2	OMIM:620233
HP:0000005	Mode of inheritance	60386	SLC25A19	OMIM:607196
HP:0000005	Mode of inheritance	60386	SLC25A19	OMIM:613710
HP:0000005	Mode of inheritance	10436	EMG1	OMIM:211180
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219900
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219800
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219750
HP:0000005	Mode of inheritance	6554	SLC10A1	OMIM:619256
HP:0000005	Mode of inheritance	284382	ACTL9	OMIM:619258
HP:0000005	Mode of inheritance	1315	COPB1	OMIM:619255
HP:0000005	Mode of inheritance	84464	SLX4	OMIM:613951
HP:0000005	Mode of inheritance	23765	IL17RA	OMIM:613953
HP:0000005	Mode of inheritance	283417	DPY19L2	OMIM:613958
HP:0000005	Mode of inheritance	55901	THSD1	OMIM:620244
HP:0000005	Mode of inheritance	10079	ATP9A	OMIM:620242
HP:0000005	Mode of inheritance	2801	GOLGA2	OMIM:620240
HP:0000005	Mode of inheritance	64802	NMNAT1	OMIM:619260
HP:0000005	Mode of inheritance	64802	NMNAT1	OMIM:608553
HP:0000005	Mode of inheritance	3690	ITGB3	OMIM:619267
HP:0000005	Mode of inheritance	1893	ECM1	OMIM:247100
HP:0000005	Mode of inheritance	55181	SMG8	OMIM:619268
HP:0000005	Mode of inheritance	8516	ITGA8	OMIM:191830
HP:0000005	Mode of inheritance	375056	MIA3	OMIM:619269
HP:0000005	Mode of inheritance	23500	DAAM2	OMIM:619263
HP:0000005	Mode of inheritance	284361	EMC10	OMIM:619264
HP:0000005	Mode of inheritance	4689	NCF4	OMIM:613960
HP:0000005	Mode of inheritance	203	AK1	OMIM:612631
HP:0000005	Mode of inheritance	10749	KIF1C	OMIM:611302
HP:0000005	Mode of inheritance	5696	PSMB8	OMIM:256040
HP:0000005	Mode of inheritance	5138	PDE2A	OMIM:619150
HP:0000005	Mode of inheritance	6770	STAR	OMIM:201710
HP:0000005	Mode of inheritance	9722	NOS1AP	OMIM:619155
HP:0000005	Mode of inheritance	1593	CYP27A1	OMIM:213700
HP:0000005	Mode of inheritance	781	CACNA2D1	OMIM:620149
HP:0000005	Mode of inheritance	2780	GNAT2	OMIM:613856
HP:0000005	Mode of inheritance	80144	FRAS1	OMIM:219000
HP:0000005	Mode of inheritance	9313	MMP20	OMIM:612529
HP:0000005	Mode of inheritance	23149	FCHO1	OMIM:619164
HP:0000005	Mode of inheritance	1638	DCT	OMIM:619165
HP:0000005	Mode of inheritance	644096	SDHAF1	OMIM:619166
HP:0000005	Mode of inheritance	6392	SDHD	OMIM:619167
HP:0000005	Mode of inheritance	8547	FCN3	OMIM:613860
HP:0000005	Mode of inheritance	10461	MERTK	OMIM:613862
HP:0000005	Mode of inheritance	79947	DHDDS	OMIM:613861
HP:0000005	Mode of inheritance	375611	SLC26A5	OMIM:613865
HP:0000005	Mode of inheritance	1410	CRYAB	OMIM:613869
HP:0000005	Mode of inheritance	1410	CRYAB	OMIM:613763
HP:0000005	Mode of inheritance	26153	KIF26A	OMIM:620156
HP:0000005	Mode of inheritance	9382	COG1	OMIM:611209
HP:0000005	Mode of inheritance	338657	CENATAC	OMIM:620153
HP:0000005	Mode of inheritance	678	ZFP36L2	OMIM:620154
HP:0000005	Mode of inheritance	63915	BLOC1S5	OMIM:619172
HP:0000005	Mode of inheritance	645104	CLRN2	OMIM:619174
HP:0000005	Mode of inheritance	4718	NDUFC2	OMIM:619170
HP:0000005	Mode of inheritance	5699	PSMB10	OMIM:619175
HP:0000005	Mode of inheritance	283677	REC114	OMIM:619176
HP:0000005	Mode of inheritance	89876	CFAP91	OMIM:619177
HP:0000005	Mode of inheritance	1272	CNTN1	OMIM:612540
HP:0000005	Mode of inheritance	92579	G6PC3	OMIM:612541
HP:0000005	Mode of inheritance	1801	DPH1	OMIM:616901
HP:0000005	Mode of inheritance	93627	TBCK	OMIM:616900
HP:0000005	Mode of inheritance	9570	GOSR2	OMIM:620166
HP:0000005	Mode of inheritance	9570	GOSR2	OMIM:614018
HP:0000005	Mode of inheritance	54675	CRLS1	OMIM:620167
HP:0000005	Mode of inheritance	823	CAPN1	OMIM:616907
HP:0000005	Mode of inheritance	10555	AGPAT2	OMIM:608594
HP:0000005	Mode of inheritance	5313	PKLR	OMIM:266200
HP:0000005	Mode of inheritance	56984	PSMG2	OMIM:619183
HP:0000005	Mode of inheritance	222663	SCUBE3	OMIM:619184
HP:0000005	Mode of inheritance	80726	IQCN	OMIM:620170
HP:0000005	Mode of inheritance	23116	TOGARAM1	OMIM:619185
HP:0000005	Mode of inheritance	51371	POMP	OMIM:601952
HP:0000005	Mode of inheritance	6687	SPG7	OMIM:607259
HP:0000005	Mode of inheritance	8557	TCAP	OMIM:601954
HP:0000005	Mode of inheritance	6999	TDO2	OMIM:600627
HP:0000005	Mode of inheritance	55148	UBR7	OMIM:619189
HP:0000005	Mode of inheritance	55775	TDP1	OMIM:607250
HP:0000005	Mode of inheritance	2492	FSHR	OMIM:233300
HP:0000005	Mode of inheritance	23545	ATP6V0A2	OMIM:278250
HP:0000005	Mode of inheritance	23545	ATP6V0A2	OMIM:219200
HP:0000005	Mode of inheritance	79867	TCTN2	OMIM:613885
HP:0000005	Mode of inheritance	79867	TCTN2	OMIM:616654
HP:0000005	Mode of inheritance	3070	HELLS	OMIM:616911
HP:0000005	Mode of inheritance	11160	ERLIN2	OMIM:611225
HP:0000005	Mode of inheritance	83879	CDCA7	OMIM:616910
HP:0000005	Mode of inheritance	23424	TDRD7	OMIM:613887
HP:0000005	Mode of inheritance	54872	PIGG	OMIM:616917
HP:0000005	Mode of inheritance	79669	C3orf52	OMIM:620177
HP:0000005	Mode of inheritance	9653	HS2ST1	OMIM:619194
HP:0000005	Mode of inheritance	84138	SLC7A6OS	OMIM:619191
HP:0000005	Mode of inheritance	5447	POR	OMIM:201750
HP:0000005	Mode of inheritance	5447	POR	OMIM:613571
HP:0000005	Mode of inheritance	56006	SMG9	OMIM:616920
HP:0000005	Mode of inheritance	56006	SMG9	OMIM:619995
HP:0000005	Mode of inheritance	10846	PDE10A	OMIM:616921
HP:0000005	Mode of inheritance	3588	IL10RB	OMIM:612567
HP:0000005	Mode of inheritance	55719	SLF2	OMIM:620184
HP:0000005	Mode of inheritance	23137	SMC5	OMIM:620185
HP:0000005	Mode of inheritance	10907	TXNL4A	OMIM:608572
HP:0000005	Mode of inheritance	55343	SLC35C1	OMIM:266265
HP:0000005	Mode of inheritance	79759	ZNF668	OMIM:620194
HP:0000005	Mode of inheritance	283209	PGM2L1	OMIM:620191
HP:0000005	Mode of inheritance	1737	DLAT	OMIM:245348
HP:0000005	Mode of inheritance	8050	PDHX	OMIM:245349
HP:0000005	Mode of inheritance	6473	SHOX	OMIM:249700
HP:0000005	Mode of inheritance	3420	IDH3B	OMIM:612572
HP:0000005	Mode of inheritance	2512	FTL	OMIM:615604
HP:0000005	Mode of inheritance	54112	GPR88	OMIM:616939
HP:0000005	Mode of inheritance	917	CD3G	OMIM:615607
HP:0000005	Mode of inheritance	84946	LTV1	OMIM:620199
HP:0000005	Mode of inheritance	2103	ESRRB	OMIM:608565
HP:0000005	Mode of inheritance	85452	CFAP74	OMIM:620197
HP:0000005	Mode of inheritance	7234	TRU-TCA1-1	OMIM:620198
HP:0000005	Mode of inheritance	157855	KCNU1	OMIM:620196
HP:0000005	Mode of inheritance	3339	HSPG2	OMIM:224410
HP:0000005	Mode of inheritance	3339	HSPG2	OMIM:255800
HP:0000005	Mode of inheritance	916	CD3E	OMIM:615615
HP:0000005	Mode of inheritance	2961	GTF2E2	OMIM:616943
HP:0000005	Mode of inheritance	51567	TDP2	OMIM:616949
HP:0000005	Mode of inheritance	200403	VWA3B	OMIM:616948
HP:0000005	Mode of inheritance	915	CD3D	OMIM:615617
HP:0000005	Mode of inheritance	93426	SYCE1	OMIM:616947
HP:0000005	Mode of inheritance	93426	SYCE1	OMIM:616950
HP:0000005	Mode of inheritance	64788	LMF1	OMIM:246650
HP:0000005	Mode of inheritance	57560	IFT80	OMIM:611263
HP:0000005	Mode of inheritance	51308	REEP2	OMIM:615625
HP:0000005	Mode of inheritance	9894	TELO2	OMIM:616954
HP:0000005	Mode of inheritance	51095	TRNT1	OMIM:616959
HP:0000005	Mode of inheritance	51095	TRNT1	OMIM:616084
HP:0000005	Mode of inheritance	56052	ALG1	OMIM:608540
HP:0000005	Mode of inheritance	84627	ZNF469	OMIM:229200
HP:0000005	Mode of inheritance	89891	DYNC2I2	OMIM:615633
HP:0000005	Mode of inheritance	2584	GALK1	OMIM:230200
HP:0000005	Mode of inheritance	84529	CDIN1	OMIM:615631
HP:0000005	Mode of inheritance	132	ADK	OMIM:614300
HP:0000005	Mode of inheritance	79848	CSPP1	OMIM:615636
HP:0000005	Mode of inheritance	11133	KPTN	OMIM:615637
HP:0000005	Mode of inheritance	50506	DUOX2	OMIM:607200
HP:0000005	Mode of inheritance	23600	AMACR	OMIM:614307
HP:0000005	Mode of inheritance	23600	AMACR	OMIM:214950
HP:0000005	Mode of inheritance	79650	USB1	OMIM:604173
HP:0000005	Mode of inheritance	9150	CTDP1	OMIM:604168
HP:0000005	Mode of inheritance	9948	WDR1	OMIM:150550
HP:0000005	Mode of inheritance	3074	HEXB	OMIM:268800
HP:0000005	Mode of inheritance	27034	ACAD8	OMIM:611283
HP:0000005	Mode of inheritance	54931	TRMT10C	OMIM:616974
HP:0000005	Mode of inheritance	7200	TRH	OMIM:275120
HP:0000005	Mode of inheritance	23732	FRRS1L	OMIM:616981
HP:0000005	Mode of inheritance	29893	PSMC3IP	OMIM:614324
HP:0000005	Mode of inheritance	4358	MPV17	OMIM:256810
HP:0000005	Mode of inheritance	4358	MPV17	OMIM:618400
HP:0000005	Mode of inheritance	10342	TFG	OMIM:615658
HP:0000005	Mode of inheritance	6868	ADAM17	OMIM:614328
HP:0000005	Mode of inheritance	9378	NRXN1	OMIM:614325
HP:0000005	Mode of inheritance	84693	MCEE	OMIM:251120
HP:0000005	Mode of inheritance	3712	IVD	OMIM:243500
HP:0000005	Mode of inheritance	8647	ABCB11	OMIM:605479
HP:0000005	Mode of inheritance	8647	ABCB11	OMIM:601847
HP:0000005	Mode of inheritance	5147	PDE6D	OMIM:615665
HP:0000005	Mode of inheritance	545	ATR	OMIM:210600
HP:0000005	Mode of inheritance	128637	TBC1D20	OMIM:615663
HP:0000005	Mode of inheritance	55969	RAB5IF	OMIM:616994
HP:0000005	Mode of inheritance	4914	NTRK1	OMIM:256800
HP:0000005	Mode of inheritance	5406	PNLIP	OMIM:614338
HP:0000005	Mode of inheritance	326625	MMAB	OMIM:251110
HP:0000005	Mode of inheritance	84059	ADGRV1	OMIM:605472
HP:0000005	Mode of inheritance	11078	TRIOBP	OMIM:609823
HP:0000005	Mode of inheritance	10367	MICU1	OMIM:615673
HP:0000005	Mode of inheritance	3702	ITK	OMIM:613011
HP:0000005	Mode of inheritance	55180	LINS1	OMIM:614340
HP:0000005	Mode of inheritance	1103	CHAT	OMIM:254210
HP:0000005	Mode of inheritance	189	AGXT	OMIM:259900
HP:0000005	Mode of inheritance	80152	CENPT	OMIM:618702
HP:0000005	Mode of inheritance	64805	P2RY12	OMIM:609821
HP:0000005	Mode of inheritance	3955	LFNG	OMIM:609813
HP:0000005	Mode of inheritance	953	ENTPD1	OMIM:615683
HP:0000005	Mode of inheritance	10613	ERLIN1	OMIM:615681
HP:0000005	Mode of inheritance	23204	ARL6IP1	OMIM:615685
HP:0000005	Mode of inheritance	5261	PHKG2	OMIM:613027
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:606785
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:218800
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:237900
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:143500
HP:0000005	Mode of inheritance	84628	NTNG2	OMIM:618718
HP:0000005	Mode of inheritance	51	ACOX1	OMIM:264470
HP:0000005	Mode of inheritance	204	AK2	OMIM:267500
HP:0000005	Mode of inheritance	2806	GOT2	OMIM:618721
HP:0000005	Mode of inheritance	5449	POU1F1	OMIM:613038
HP:0000005	Mode of inheritance	7473	WNT3	OMIM:273395
HP:0000005	Mode of inheritance	8086	AAAS	OMIM:231550
HP:0000005	Mode of inheritance	8139	GAN	OMIM:256850
HP:0000005	Mode of inheritance	1439	CSF2RB	OMIM:614370
HP:0000005	Mode of inheritance	51075	TMX2	OMIM:618730
HP:0000005	Mode of inheritance	57647	DHX37	OMIM:618731
HP:0000005	Mode of inheritance	22948	CCT5	OMIM:256840
HP:0000005	Mode of inheritance	51763	INPP5K	OMIM:617404
HP:0000005	Mode of inheritance	10844	TUBGCP2	OMIM:618737
HP:0000005	Mode of inheritance	523	ATP6V1A	OMIM:617403
HP:0000005	Mode of inheritance	529	ATP6V1E1	OMIM:617402
HP:0000005	Mode of inheritance	255758	DYNLT2B	OMIM:617405
HP:0000005	Mode of inheritance	9381	OTOF	OMIM:601071
HP:0000005	Mode of inheritance	64699	TMPRSS3	OMIM:601072
HP:0000005	Mode of inheritance	352909	DNAAF3	OMIM:606763
HP:0000005	Mode of inheritance	7252	TSHB	OMIM:275100
HP:0000005	Mode of inheritance	3551	IKBKB	OMIM:615592
HP:0000005	Mode of inheritance	10617	STAMBP	OMIM:614261
HP:0000005	Mode of inheritance	57128	LYRM4	OMIM:615595
HP:0000005	Mode of inheritance	197322	ACSF3	OMIM:614265
HP:0000005	Mode of inheritance	3703	STT3A	OMIM:615596
HP:0000005	Mode of inheritance	7293	TNFRSF4	OMIM:615593
HP:0000005	Mode of inheritance	6873	TAF2	OMIM:615599
HP:0000005	Mode of inheritance	1000	CDH2	OMIM:619957
HP:0000005	Mode of inheritance	201595	STT3B	OMIM:615597
HP:0000005	Mode of inheritance	8710	SERPINB7	OMIM:615598
HP:0000005	Mode of inheritance	26873	OPLAH	OMIM:260005
HP:0000005	Mode of inheritance	55627	SMPD4	OMIM:618622
HP:0000005	Mode of inheritance	23417	MLYCD	OMIM:248360
HP:0000005	Mode of inheritance	5361	PLXNA1	OMIM:619955
HP:0000005	Mode of inheritance	64682	ANAPC1	OMIM:618625
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:214110
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:616716
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:202370
HP:0000005	Mode of inheritance	1131	CHRM3	OMIM:100100
HP:0000005	Mode of inheritance	64094	SMOC2	OMIM:125400
HP:0000005	Mode of inheritance	9380	GRHPR	OMIM:260000
HP:0000005	Mode of inheritance	6536	SLC6A9	OMIM:617301
HP:0000005	Mode of inheritance	1646	AKR1C2	OMIM:614279
HP:0000005	Mode of inheritance	1109	AKR1C4	OMIM:614279
HP:0000005	Mode of inheritance	92840	REEP6	OMIM:617304
HP:0000005	Mode of inheritance	65082	VPS33A	OMIM:617303
HP:0000005	Mode of inheritance	10730	YME1L1	OMIM:617302
HP:0000005	Mode of inheritance	8309	ACOX2	OMIM:617308
HP:0000005	Mode of inheritance	128486	FITM2	OMIM:618635
HP:0000005	Mode of inheritance	57156	TMEM63C	OMIM:619966
HP:0000005	Mode of inheritance	4286	MITF	OMIM:617306
HP:0000005	Mode of inheritance	9200	HACD1	OMIM:619967
HP:0000005	Mode of inheritance	7486	WRN	OMIM:277700
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:214100
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:234580
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:601539
HP:0000005	Mode of inheritance	55034	MOCOS	OMIM:603592
HP:0000005	Mode of inheritance	10559	SLC35A1	OMIM:603585
HP:0000005	Mode of inheritance	54	ACP5	OMIM:607944
HP:0000005	Mode of inheritance	535	ATP6V0A1	OMIM:619971
HP:0000005	Mode of inheritance	60561	RINT1	OMIM:618641
HP:0000005	Mode of inheritance	129685	TAF8	OMIM:619972
HP:0000005	Mode of inheritance	10584	COLEC10	OMIM:248340
HP:0000005	Mode of inheritance	8632	DNAH17	OMIM:618643
HP:0000005	Mode of inheritance	1298	COL9A2	OMIM:614284
HP:0000005	Mode of inheritance	10379	IRF9	OMIM:618648
HP:0000005	Mode of inheritance	23184	MESD	OMIM:618644
HP:0000005	Mode of inheritance	27151	CPAMD8	OMIM:617319
HP:0000005	Mode of inheritance	170825	GSX2	OMIM:618646
HP:0000005	Mode of inheritance	6445	SGCG	OMIM:253700
HP:0000005	Mode of inheritance	1475	CSTA	OMIM:607936
HP:0000005	Mode of inheritance	154288	KHDC3L	OMIM:614293
HP:0000005	Mode of inheritance	22872	SEC31A	OMIM:618651
HP:0000005	Mode of inheritance	283987	HID1	OMIM:619983
HP:0000005	Mode of inheritance	55214	P3H2	OMIM:614292
HP:0000005	Mode of inheritance	497661	C18orf32	OMIM:619985
HP:0000005	Mode of inheritance	3612	IMPA1	OMIM:617323
HP:0000005	Mode of inheritance	56992	KIF15	OMIM:619981
HP:0000005	Mode of inheritance	23581	CASP14	OMIM:617320
HP:0000005	Mode of inheritance	388962	BOLA3	OMIM:614299
HP:0000005	Mode of inheritance	55521	TRIM36	OMIM:206500
HP:0000005	Mode of inheritance	9731	CEP104	OMIM:619988
HP:0000005	Mode of inheritance	9731	CEP104	OMIM:616781
HP:0000005	Mode of inheritance	55623	THUMPD1	OMIM:619989
HP:0000005	Mode of inheritance	105371045	PERCC1	OMIM:618662
HP:0000005	Mode of inheritance	255101	CFAP65	OMIM:618664
HP:0000005	Mode of inheritance	29081	METTL5	OMIM:618665
HP:0000005	Mode of inheritance	54914	FOCAD	OMIM:619991
HP:0000005	Mode of inheritance	5792	PTPRF	OMIM:616001
HP:0000005	Mode of inheritance	2936	GSR	OMIM:618660
HP:0000005	Mode of inheritance	55699	IARS2	OMIM:616007
HP:0000005	Mode of inheritance	79633	FAT4	OMIM:616006
HP:0000005	Mode of inheritance	79633	FAT4	OMIM:615546
HP:0000005	Mode of inheritance	84665	MYPN	OMIM:617336
HP:0000005	Mode of inheritance	64240	ABCG5	OMIM:618666
HP:0000005	Mode of inheritance	4191	MDH2	OMIM:617339
HP:0000005	Mode of inheritance	166785	MMAA	OMIM:251100
HP:0000005	Mode of inheritance	2248	FGF3	OMIM:610706
HP:0000005	Mode of inheritance	5551	PRF1	OMIM:603553
HP:0000005	Mode of inheritance	8676	STX11	OMIM:603552
HP:0000005	Mode of inheritance	79991	STN1	OMIM:617341
HP:0000005	Mode of inheritance	118491	CFAP70	OMIM:618670
HP:0000005	Mode of inheritance	10297	APC2	OMIM:618677
HP:0000005	Mode of inheritance	10297	APC2	OMIM:617169
HP:0000005	Mode of inheritance	57104	PNPLA2	OMIM:610717
HP:0000005	Mode of inheritance	147409	DSG4	OMIM:607903
HP:0000005	Mode of inheritance	9922	IQSEC1	OMIM:618687
HP:0000005	Mode of inheritance	284098	PIGW	OMIM:616025
HP:0000005	Mode of inheritance	4193	MDM2	OMIM:618681
HP:0000005	Mode of inheritance	84833	ATP5MK	OMIM:618683
HP:0000005	Mode of inheritance	84522	JAGN1	OMIM:616022
HP:0000005	Mode of inheritance	79977	GRHL2	OMIM:616029
HP:0000005	Mode of inheritance	2591	GALNT3	OMIM:211900
HP:0000005	Mode of inheritance	5213	PFKM	OMIM:232800
HP:0000005	Mode of inheritance	51196	PLCE1	OMIM:610725
HP:0000005	Mode of inheritance	345643	MCIDAS	OMIM:618695
HP:0000005	Mode of inheritance	133686	NADK2	OMIM:616034
HP:0000005	Mode of inheritance	93587	TRMT10A	OMIM:616033
HP:0000005	Mode of inheritance	1337	COX6A1	OMIM:616039
HP:0000005	Mode of inheritance	115948	ODAD3	OMIM:616037
HP:0000005	Mode of inheritance	10456	HAX1	OMIM:610738
HP:0000005	Mode of inheritance	23111	SPART	OMIM:275900
HP:0000005	Mode of inheritance	8504	PEX3	OMIM:617370
HP:0000005	Mode of inheritance	8504	PEX3	OMIM:614882
HP:0000005	Mode of inheritance	53405	CLIC5	OMIM:616042
HP:0000005	Mode of inheritance	23345	SYNE1	OMIM:610743
HP:0000005	Mode of inheritance	23345	SYNE1	OMIM:618484
HP:0000005	Mode of inheritance	56521	DNAJC12	OMIM:617384
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:226960
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:210710
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:616651
HP:0000005	Mode of inheritance	1062	CENPE	OMIM:616051
HP:0000005	Mode of inheritance	8867	SYNJ1	OMIM:617389
HP:0000005	Mode of inheritance	8867	SYNJ1	OMIM:615530
HP:0000005	Mode of inheritance	10126	DNAL4	OMIM:616059
HP:0000005	Mode of inheritance	9622	KLK4	OMIM:204700
HP:0000005	Mode of inheritance	2067	ERCC1	OMIM:610758
HP:0000005	Mode of inheritance	10166	SLC25A15	OMIM:238970
HP:0000005	Mode of inheritance	83999	KREMEN1	OMIM:617392
HP:0000005	Mode of inheritance	3938	LCT	OMIM:223000
HP:0000005	Mode of inheritance	10940	POP1	OMIM:617396
HP:0000005	Mode of inheritance	22796	COG2	OMIM:617395
HP:0000005	Mode of inheritance	3394	IRF8	OMIM:226990
HP:0000005	Mode of inheritance	11274	USP18	OMIM:617397
HP:0000005	Mode of inheritance	1585	CYP11B2	OMIM:203400
HP:0000005	Mode of inheritance	1585	CYP11B2	OMIM:610600
HP:0000005	Mode of inheritance	22845	DOLK	OMIM:610768
HP:0000005	Mode of inheritance	4864	NPC1	OMIM:257220
HP:0000005	Mode of inheritance	80324	PUS1	OMIM:600462
HP:0000005	Mode of inheritance	22873	DZIP1	OMIM:619102
HP:0000005	Mode of inheritance	9451	EIF2AK3	OMIM:226980
HP:0000005	Mode of inheritance	5395	PMS2	OMIM:619101
HP:0000005	Mode of inheritance	5250	SLC25A3	OMIM:610773
HP:0000005	Mode of inheritance	5000	ORC4	OMIM:613800
HP:0000005	Mode of inheritance	130951	M1AP	OMIM:619108
HP:0000005	Mode of inheritance	2683	B4GALT1	OMIM:607091
HP:0000005	Mode of inheritance	5158	PDE6B	OMIM:613801
HP:0000005	Mode of inheritance	81620	CDT1	OMIM:613804
HP:0000005	Mode of inheritance	23594	ORC6	OMIM:613803
HP:0000005	Mode of inheritance	990	CDC6	OMIM:613805
HP:0000005	Mode of inheritance	55036	CCDC40	OMIM:613808
HP:0000005	Mode of inheritance	339829	CCDC39	OMIM:613807
HP:0000005	Mode of inheritance	11340	EXOSC8	OMIM:616081
HP:0000005	Mode of inheritance	1021	CDK6	OMIM:616080
HP:0000005	Mode of inheritance	29895	MYL11	OMIM:619110
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:619111
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:619845
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:612285
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:612284
HP:0000005	Mode of inheritance	55526	DHTKD1	OMIM:204750
HP:0000005	Mode of inheritance	79005	SCNM1	OMIM:620107
HP:0000005	Mode of inheritance	51091	SEPSECS	OMIM:613811
HP:0000005	Mode of inheritance	5145	PDE6A	OMIM:613810
HP:0000005	Mode of inheritance	50846	DHH	OMIM:607080
HP:0000005	Mode of inheritance	50846	DHH	OMIM:233420
HP:0000005	Mode of inheritance	84839	RAX2	OMIM:620102
HP:0000005	Mode of inheritance	8468	FKBP6	OMIM:620103
HP:0000005	Mode of inheritance	4796	TONSL	OMIM:271510
HP:0000005	Mode of inheritance	79809	TTC21B	OMIM:613819
HP:0000005	Mode of inheritance	79809	TTC21B	OMIM:613820
HP:0000005	Mode of inheritance	113189	CHST14	OMIM:601776
HP:0000005	Mode of inheritance	2916	GRM6	OMIM:257270
HP:0000005	Mode of inheritance	6573	SLC19A1	OMIM:601775
HP:0000005	Mode of inheritance	2571	GAD1	OMIM:619124
HP:0000005	Mode of inheritance	90522	YIF1B	OMIM:619125
HP:0000005	Mode of inheritance	10651	MTX2	OMIM:619127
HP:0000005	Mode of inheritance	6566	SLC16A1	OMIM:616095
HP:0000005	Mode of inheritance	55755	CDK5RAP2	OMIM:604804
HP:0000005	Mode of inheritance	6472	SHMT2	OMIM:619121
HP:0000005	Mode of inheritance	90416	CCDC32	OMIM:619123
HP:0000005	Mode of inheritance	10161	LPAR6	OMIM:278150
HP:0000005	Mode of inheritance	284086	NEK8	OMIM:613824
HP:0000005	Mode of inheritance	284086	NEK8	OMIM:615415
HP:0000005	Mode of inheritance	28956	LAMTOR2	OMIM:610798
HP:0000005	Mode of inheritance	118924	FRA10AC1	OMIM:620113
HP:0000005	Mode of inheritance	23169	SLC35D1	OMIM:269250
HP:0000005	Mode of inheritance	22995	CEP152	OMIM:613823
HP:0000005	Mode of inheritance	22995	CEP152	OMIM:614852
HP:0000005	Mode of inheritance	57096	RPGRIP1	OMIM:613826
HP:0000005	Mode of inheritance	57096	RPGRIP1	OMIM:608194
HP:0000005	Mode of inheritance	57020	VPS35L	OMIM:619135
HP:0000005	Mode of inheritance	11014	KDELR2	OMIM:619131
HP:0000005	Mode of inheritance	57152	SLURP1	OMIM:248300
HP:0000005	Mode of inheritance	55835	CENPJ	OMIM:608393
HP:0000005	Mode of inheritance	55835	CENPJ	OMIM:613676
HP:0000005	Mode of inheritance	383	ARG1	OMIM:207800
HP:0000005	Mode of inheritance	9187	SLC24A1	OMIM:613830
HP:0000005	Mode of inheritance	6340	SCNN1G	OMIM:620126
HP:0000005	Mode of inheritance	6338	SCNN1B	OMIM:620125
HP:0000005	Mode of inheritance	1719	DHFR	OMIM:613839
HP:0000005	Mode of inheritance	224	ALDH3A2	OMIM:270200
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:619146
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:619145
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:617247
HP:0000005	Mode of inheritance	5626	PROP1	OMIM:262600
HP:0000005	Mode of inheritance	1586	CYP17A1	OMIM:202110
HP:0000005	Mode of inheritance	159686	CFAP58	OMIM:619144
HP:0000005	Mode of inheritance	375298	CERKL	OMIM:608380
HP:0000005	Mode of inheritance	7388	UQCRH	OMIM:620137
HP:0000005	Mode of inheritance	7389	UROD	OMIM:176100
HP:0000005	Mode of inheritance	3077	HFE	OMIM:176100
HP:0000005	Mode of inheritance	3077	HFE	OMIM:235200
HP:0000005	Mode of inheritance	90523	MLIP	OMIM:620138
HP:0000005	Mode of inheritance	4713	NDUFB7	OMIM:620135
HP:0000005	Mode of inheritance	54938	SARS2	OMIM:613845
HP:0000005	Mode of inheritance	64858	DCLRE1B	OMIM:620133
HP:0000005	Mode of inheritance	26275	HIBCH	OMIM:250620
HP:0000005	Mode of inheritance	50640	PNPLA8	OMIM:251950
HP:0000005	Mode of inheritance	55172	DNAAF2	OMIM:612518
HP:0000005	Mode of inheritance	121340	SP7	OMIM:613849
HP:0000005	Mode of inheritance	84189	SLITRK6	OMIM:221200
HP:0000005	Mode of inheritance	126326	GIPC3	OMIM:601869
HP:0000005	Mode of inheritance	8838	CCN6	OMIM:208230
HP:0000005	Mode of inheritance	51181	DCXR	OMIM:260800
HP:0000005	Mode of inheritance	83700	JAM3	OMIM:613730
HP:0000005	Mode of inheritance	7109	TRAPPC10	OMIM:620027
HP:0000005	Mode of inheritance	55325	UFSP2	OMIM:620028
HP:0000005	Mode of inheritance	8854	ALDH1A2	OMIM:620025
HP:0000005	Mode of inheritance	1119	CHKA	OMIM:620023
HP:0000005	Mode of inheritance	8496	PPFIBP1	OMIM:620024
HP:0000005	Mode of inheritance	118987	PDZD8	OMIM:620021
HP:0000005	Mode of inheritance	1299	COL9A3	OMIM:620022
HP:0000005	Mode of inheritance	501	ALDH7A1	OMIM:266100
HP:0000005	Mode of inheritance	3073	HEXA	OMIM:272800
HP:0000005	Mode of inheritance	6840	SVIL	OMIM:619040
HP:0000005	Mode of inheritance	5972	REN	OMIM:267430
HP:0000005	Mode of inheritance	1636	ACE	OMIM:267430
HP:0000005	Mode of inheritance	6341	SCO1	OMIM:619048
HP:0000005	Mode of inheritance	162	AP1B1	OMIM:242150
HP:0000005	Mode of inheritance	201134	CEP112	OMIM:619044
HP:0000005	Mode of inheritance	1352	COX10	OMIM:619046
HP:0000005	Mode of inheritance	57674	RNF213	OMIM:607151
HP:0000005	Mode of inheritance	5689	PSMB1	OMIM:620038
HP:0000005	Mode of inheritance	23431	AP4E1	OMIM:613744
HP:0000005	Mode of inheritance	2160	F11	OMIM:612416
HP:0000005	Mode of inheritance	8382	NME5	OMIM:620032
HP:0000005	Mode of inheritance	63908	NAPB	OMIM:620033
HP:0000005	Mode of inheritance	1340	COX6B1	OMIM:619051
HP:0000005	Mode of inheritance	51204	TACO1	OMIM:619052
HP:0000005	Mode of inheritance	84987	COX14	OMIM:619053
HP:0000005	Mode of inheritance	28958	COA3	OMIM:619058
HP:0000005	Mode of inheritance	10216	PRG4	OMIM:208250
HP:0000005	Mode of inheritance	1351	COX8A	OMIM:619059
HP:0000005	Mode of inheritance	116228	COX20	OMIM:619054
HP:0000005	Mode of inheritance	100131801	PET100	OMIM:619055
HP:0000005	Mode of inheritance	55037	PTCD3	OMIM:619057
HP:0000005	Mode of inheritance	1136	CHRNA3	OMIM:191800
HP:0000005	Mode of inheritance	191	AHCY	OMIM:613752
HP:0000005	Mode of inheritance	340024	SLC6A19	OMIM:234500
HP:0000005	Mode of inheritance	3818	KLKB1	OMIM:612423
HP:0000005	Mode of inheritance	3911	LAMA5	OMIM:620049
HP:0000005	Mode of inheritance	3911	LAMA5	OMIM:620076
HP:0000005	Mode of inheritance	10015	PDCD6IP	OMIM:620047
HP:0000005	Mode of inheritance	55107	ANO1	OMIM:620045
HP:0000005	Mode of inheritance	8772	FADD	OMIM:613759
HP:0000005	Mode of inheritance	1854	DUT	OMIM:620044
HP:0000005	Mode of inheritance	79087	ALG12	OMIM:607143
HP:0000005	Mode of inheritance	84334	COA8	OMIM:619061
HP:0000005	Mode of inheritance	1339	COX6A2	OMIM:619062
HP:0000005	Mode of inheritance	100303755	PET117	OMIM:619063
HP:0000005	Mode of inheritance	9377	COX5A	OMIM:619064
HP:0000005	Mode of inheritance	1327	COX4I1	OMIM:619060
HP:0000005	Mode of inheritance	4697	NDUFA4	OMIM:619065
HP:0000005	Mode of inheritance	1258	CNGB1	OMIM:613767
HP:0000005	Mode of inheritance	55157	DARS2	OMIM:611105
HP:0000005	Mode of inheritance	5995	RGR	OMIM:613769
HP:0000005	Mode of inheritance	144165	PRICKLE1	OMIM:612437
HP:0000005	Mode of inheritance	9333	TGM5	OMIM:609796
HP:0000005	Mode of inheritance	23265	EXOC7	OMIM:619072
HP:0000005	Mode of inheritance	1802	DPH2	OMIM:620062
HP:0000005	Mode of inheritance	2615	LRRC32	OMIM:619074
HP:0000005	Mode of inheritance	3767	KCNJ11	OMIM:601820
HP:0000005	Mode of inheritance	5091	PC	OMIM:266150
HP:0000005	Mode of inheritance	1267	CNP	OMIM:619071
HP:0000005	Mode of inheritance	149371	EXOC8	OMIM:619076
HP:0000005	Mode of inheritance	4035	LRP1	OMIM:604093
HP:0000005	Mode of inheritance	64446	DNAI2	OMIM:612444
HP:0000005	Mode of inheritance	285175	UNC80	OMIM:616801
HP:0000005	Mode of inheritance	729	C6	OMIM:612446
HP:0000005	Mode of inheritance	718	C3	OMIM:613779
HP:0000005	Mode of inheritance	171019	ADAMTS19	OMIM:620067
HP:0000005	Mode of inheritance	83475	DOHH	OMIM:620066
HP:0000005	Mode of inheritance	84992	PIGY	OMIM:616809
HP:0000005	Mode of inheritance	55027	HEATR3	OMIM:620072
HP:0000005	Mode of inheritance	5700	PSMC1	OMIM:620071
HP:0000005	Mode of inheritance	6558	SLC12A2	OMIM:619080
HP:0000005	Mode of inheritance	79816	TLE6	OMIM:616814
HP:0000005	Mode of inheritance	11149	BVES	OMIM:616812
HP:0000005	Mode of inheritance	732	C8B	OMIM:613789
HP:0000005	Mode of inheritance	28976	ACAD9	OMIM:611126
HP:0000005	Mode of inheritance	25828	TXN2	OMIM:616811
HP:0000005	Mode of inheritance	84919	PPP1R15B	OMIM:616817
HP:0000005	Mode of inheritance	51244	CCDC174	OMIM:616816
HP:0000005	Mode of inheritance	54862	CC2D1A	OMIM:608443
HP:0000005	Mode of inheritance	55691	FRMD4A	OMIM:616819
HP:0000005	Mode of inheritance	10430	TMEM147	OMIM:620075
HP:0000005	Mode of inheritance	146754	DNAH2	OMIM:619094
HP:0000005	Mode of inheritance	91057	CCDC34	OMIM:620084
HP:0000005	Mode of inheritance	1769	DNAH8	OMIM:619095
HP:0000005	Mode of inheritance	4436	MSH2	OMIM:619096
HP:0000005	Mode of inheritance	4677	NARS1	OMIM:619091
HP:0000005	Mode of inheritance	9080	CLDN9	OMIM:619093
HP:0000005	Mode of inheritance	731	C8A	OMIM:613790
HP:0000005	Mode of inheritance	9147	NEMF	OMIM:619099
HP:0000005	Mode of inheritance	10747	MASP2	OMIM:613791
HP:0000005	Mode of inheritance	6121	RPE65	OMIM:613794
HP:0000005	Mode of inheritance	6121	RPE65	OMIM:204100
HP:0000005	Mode of inheritance	10002	NR2E3	OMIM:611131
HP:0000005	Mode of inheritance	10002	NR2E3	OMIM:268100
HP:0000005	Mode of inheritance	1604	CD55	OMIM:613793
HP:0000005	Mode of inheritance	1604	CD55	OMIM:226300
HP:0000005	Mode of inheritance	147007	TMEM199	OMIM:616829
HP:0000005	Mode of inheritance	84317	CCDC115	OMIM:616828
HP:0000005	Mode of inheritance	53904	MYO3A	OMIM:607101
HP:0000005	Mode of inheritance	55679	LIMS2	OMIM:616827
HP:0000005	Mode of inheritance	51251	NT5C3A	OMIM:266120
HP:0000005	Mode of inheritance	2581	GALC	OMIM:245200
HP:0000005	Mode of inheritance	56683	CFAP298	OMIM:615500
HP:0000005	Mode of inheritance	10243	GPHN	OMIM:615501
HP:0000005	Mode of inheritance	10243	GPHN	OMIM:149400
HP:0000005	Mode of inheritance	80207	OPA3	OMIM:258501
HP:0000005	Mode of inheritance	85478	CCDC65	OMIM:615504
HP:0000005	Mode of inheritance	6674	SPAG1	OMIM:615505
HP:0000005	Mode of inheritance	6307	MSMO1	OMIM:616834
HP:0000005	Mode of inheritance	55112	DYNC2I1	OMIM:615503
HP:0000005	Mode of inheritance	1828	DSG1	OMIM:615508
HP:0000005	Mode of inheritance	81034	SLC25A32	OMIM:616839
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:145900
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:145900
HP:0000005	Mode of inheritance	1959	EGR2	OMIM:145900
HP:0000005	Mode of inheritance	1959	EGR2	OMIM:605253
HP:0000005	Mode of inheritance	57716	PRX	OMIM:145900
HP:0000005	Mode of inheritance	57716	PRX	OMIM:614895
HP:0000005	Mode of inheritance	8787	RGS9	OMIM:608415
HP:0000005	Mode of inheritance	270	AMPD1	OMIM:615511
HP:0000005	Mode of inheritance	9780	PIEZO1	OMIM:616843
HP:0000005	Mode of inheritance	4907	NT5E	OMIM:211800
HP:0000005	Mode of inheritance	7167	TPI1	OMIM:615512
HP:0000005	Mode of inheritance	29926	GMPPA	OMIM:615510
HP:0000005	Mode of inheritance	54832	VPS13C	OMIM:616840
HP:0000005	Mode of inheritance	1417	CRYBB3	OMIM:609741
HP:0000005	Mode of inheritance	10	NAT2	OMIM:243400
HP:0000005	Mode of inheritance	948	CD36	OMIM:608404
HP:0000005	Mode of inheritance	3313	HSPA9	OMIM:616854
HP:0000005	Mode of inheritance	23094	SIPA1L3	OMIM:616851
HP:0000005	Mode of inheritance	10758	TRAF3IP2	OMIM:615527
HP:0000005	Mode of inheritance	5915	RARB	OMIM:615524
HP:0000005	Mode of inheritance	9829	DNAJC6	OMIM:615528
HP:0000005	Mode of inheritance	51218	GLRX5	OMIM:616859
HP:0000005	Mode of inheritance	51218	GLRX5	OMIM:616860
HP:0000005	Mode of inheritance	10265	IRX5	OMIM:611174
HP:0000005	Mode of inheritance	11253	MAN1B1	OMIM:614202
HP:0000005	Mode of inheritance	10841	FTCD	OMIM:229100
HP:0000005	Mode of inheritance	55806	HR	OMIM:209500
HP:0000005	Mode of inheritance	55806	HR	OMIM:203655
HP:0000005	Mode of inheritance	51206	GP6	OMIM:614201
HP:0000005	Mode of inheritance	27315	PGAP2	OMIM:614207
HP:0000005	Mode of inheritance	6550	SLC9A3	OMIM:616868
HP:0000005	Mode of inheritance	26525	IL36RN	OMIM:614204
HP:0000005	Mode of inheritance	83987	CCDC8	OMIM:614205
HP:0000005	Mode of inheritance	29940	DSE	OMIM:615539
HP:0000005	Mode of inheritance	27077	B9D1	OMIM:614209
HP:0000005	Mode of inheritance	27077	B9D1	OMIM:617120
HP:0000005	Mode of inheritance	4594	MMUT	OMIM:251000
HP:0000005	Mode of inheritance	23400	ATP13A2	OMIM:606693
HP:0000005	Mode of inheritance	23400	ATP13A2	OMIM:617225
HP:0000005	Mode of inheritance	163183	SYNE4	OMIM:615540
HP:0000005	Mode of inheritance	84342	COG8	OMIM:611182
HP:0000005	Mode of inheritance	80185	TTI2	OMIM:615541
HP:0000005	Mode of inheritance	3293	HSD17B3	OMIM:264300
HP:0000005	Mode of inheritance	7289	TULP3	OMIM:619902
HP:0000005	Mode of inheritance	23065	EMC1	OMIM:616875
HP:0000005	Mode of inheritance	128989	TANGO2	OMIM:616878
HP:0000005	Mode of inheritance	57572	DOCK6	OMIM:614219
HP:0000005	Mode of inheritance	7138	TNNT1	OMIM:605355
HP:0000005	Mode of inheritance	7074	TIAM1	OMIM:619908
HP:0000005	Mode of inheritance	59336	PRDM13	OMIM:619909
HP:0000005	Mode of inheritance	59336	PRDM13	OMIM:619761
HP:0000005	Mode of inheritance	242	ALOX12B	OMIM:242100
HP:0000005	Mode of inheritance	59344	ALOXE3	OMIM:242100
HP:0000005	Mode of inheritance	59344	ALOXE3	OMIM:606545
HP:0000005	Mode of inheritance	51501	HIKESHI	OMIM:616881
HP:0000005	Mode of inheritance	3490	IGFBP7	OMIM:614224
HP:0000005	Mode of inheritance	5618	PRLR	OMIM:615555
HP:0000005	Mode of inheritance	81562	LMAN2L	OMIM:616887
HP:0000005	Mode of inheritance	22931	RAB18	OMIM:614222
HP:0000005	Mode of inheritance	23443	SLC35A3	OMIM:615553
HP:0000005	Mode of inheritance	5580	PRKCD	OMIM:615559
HP:0000005	Mode of inheritance	255928	SYT14	OMIM:614229
HP:0000005	Mode of inheritance	338	APOB	OMIM:615558
HP:0000005	Mode of inheritance	23209	MLC1	OMIM:604004
HP:0000005	Mode of inheritance	51124	IER3IP1	OMIM:614231
HP:0000005	Mode of inheritance	23165	NUP205	OMIM:616893
HP:0000005	Mode of inheritance	5075	PAX1	OMIM:615560
HP:0000005	Mode of inheritance	9688	NUP93	OMIM:616892
HP:0000005	Mode of inheritance	629	CFB	OMIM:615561
HP:0000005	Mode of inheritance	5788	PTPRC	OMIM:619924
HP:0000005	Mode of inheritance	202018	TAPT1	OMIM:616897
HP:0000005	Mode of inheritance	4751	NEK2	OMIM:615565
HP:0000005	Mode of inheritance	2741	GLRA1	OMIM:149400
HP:0000005	Mode of inheritance	55164	SHQ1	OMIM:619921
HP:0000005	Mode of inheritance	55164	SHQ1	OMIM:619922
HP:0000005	Mode of inheritance	27232	GNMT	OMIM:606664
HP:0000005	Mode of inheritance	6337	SCNN1A	OMIM:264350
HP:0000005	Mode of inheritance	79934	COQ8B	OMIM:615573
HP:0000005	Mode of inheritance	440	ASNS	OMIM:615574
HP:0000005	Mode of inheritance	5538	PPT1	OMIM:256730
HP:0000005	Mode of inheritance	3454	IFNAR1	OMIM:619935
HP:0000005	Mode of inheritance	1203	CLN5	OMIM:256731
HP:0000005	Mode of inheritance	119559	SFXN4	OMIM:615578
HP:0000005	Mode of inheritance	738	VPS51	OMIM:618606
HP:0000005	Mode of inheritance	4438	MSH4	OMIM:619938
HP:0000005	Mode of inheritance	4438	MSH4	OMIM:108420
HP:0000005	Mode of inheritance	2890	GRIA1	OMIM:619931
HP:0000005	Mode of inheritance	9439	MED23	OMIM:614249
HP:0000005	Mode of inheritance	4292	MLH1	OMIM:276300
HP:0000005	Mode of inheritance	101929726	MYMX	OMIM:619941
HP:0000005	Mode of inheritance	3034	HAL	OMIM:235800
HP:0000005	Mode of inheritance	4254	KITLG	OMIM:619947
HP:0000005	Mode of inheritance	158401	SHOC1	OMIM:619949
HP:0000005	Mode of inheritance	57670	KIAA1549	OMIM:618613
HP:0000005	Mode of inheritance	3651	PDX1	OMIM:260370
HP:0000005	Mode of inheritance	26235	FBXL4	OMIM:615471
HP:0000005	Mode of inheritance	125150	ZSWIM7	OMIM:619831
HP:0000005	Mode of inheritance	125150	ZSWIM7	OMIM:619834
HP:0000005	Mode of inheritance	23334	SZT2	OMIM:615476
HP:0000005	Mode of inheritance	9254	CACNA2D2	OMIM:618501
HP:0000005	Mode of inheritance	4897	NRCAM	OMIM:619833
HP:0000005	Mode of inheritance	91801	ALKBH8	OMIM:618504
HP:0000005	Mode of inheritance	54332	GDAP1	OMIM:607831
HP:0000005	Mode of inheritance	54332	GDAP1	OMIM:214400
HP:0000005	Mode of inheritance	54332	GDAP1	OMIM:608340
HP:0000005	Mode of inheritance	54332	GDAP1	OMIM:607706
HP:0000005	Mode of inheritance	56704	JPH1	OMIM:607831
HP:0000005	Mode of inheritance	197131	UBR1	OMIM:243800
HP:0000005	Mode of inheritance	89765	RSPH1	OMIM:615481
HP:0000005	Mode of inheritance	161582	DNAAF4	OMIM:615482
HP:0000005	Mode of inheritance	4210	MEFV	OMIM:249100
HP:0000005	Mode of inheritance	8566	PDXK	OMIM:618511
HP:0000005	Mode of inheritance	1841	DTYMK	OMIM:619847
HP:0000005	Mode of inheritance	644	BLVRA	OMIM:614156
HP:0000005	Mode of inheritance	84936	ZFYVE19	OMIM:619849
HP:0000005	Mode of inheritance	318	NUDT2	OMIM:619844
HP:0000005	Mode of inheritance	85015	USP45	OMIM:618513
HP:0000005	Mode of inheritance	56259	CTNNBL1	OMIM:619846
HP:0000005	Mode of inheritance	2188	FANCF	OMIM:603467
HP:0000005	Mode of inheritance	4646	MYO6	OMIM:607821
HP:0000005	Mode of inheritance	54345	SOX18	OMIM:607823
HP:0000005	Mode of inheritance	288	ANK3	OMIM:615493
HP:0000005	Mode of inheritance	23321	TRIM2	OMIM:615490
HP:0000005	Mode of inheritance	2660	MSTN	OMIM:614160
HP:0000005	Mode of inheritance	5105	PCK1	OMIM:261680
HP:0000005	Mode of inheritance	2876	GPX1	OMIM:614164
HP:0000005	Mode of inheritance	283652	SLC24A5	OMIM:113750
HP:0000005	Mode of inheritance	1777	DNASE2	OMIM:619858
HP:0000005	Mode of inheritance	10606	PAICS	OMIM:619859
HP:0000005	Mode of inheritance	64359	NXN	OMIM:618529
HP:0000005	Mode of inheritance	79140	CCDC28B	OMIM:209900
HP:0000005	Mode of inheritance	582	BBS1	OMIM:209900
HP:0000005	Mode of inheritance	10484	SEC23A	OMIM:607812
HP:0000005	Mode of inheritance	79600	TCTN1	OMIM:614173
HP:0000005	Mode of inheritance	10935	PRDX3	OMIM:619862
HP:0000005	Mode of inheritance	11107	PRDM5	OMIM:614170
HP:0000005	Mode of inheritance	26258	BLOC1S6	OMIM:614171
HP:0000005	Mode of inheritance	1594	CYP27B1	OMIM:264700
HP:0000005	Mode of inheritance	5224	PGAM2	OMIM:261670
HP:0000005	Mode of inheritance	80776	B9D2	OMIM:614175
HP:0000005	Mode of inheritance	8550	MAPKAPK5	OMIM:619869
HP:0000005	Mode of inheritance	168507	PKD1L1	OMIM:617205
HP:0000005	Mode of inheritance	1201	CLN3	OMIM:204200
HP:0000005	Mode of inheritance	10125	RASGRP1	OMIM:618534
HP:0000005	Mode of inheritance	1474	CST6	OMIM:618535
HP:0000005	Mode of inheritance	126410	CYP4F22	OMIM:604777
HP:0000005	Mode of inheritance	4117	MAK	OMIM:614181
HP:0000005	Mode of inheritance	8482	SEMA7A	OMIM:619874
HP:0000005	Mode of inheritance	23729	SHPK	OMIM:617213
HP:0000005	Mode of inheritance	3590	IL11RA	OMIM:614188
HP:0000005	Mode of inheritance	3769	KCNJ13	OMIM:614186
HP:0000005	Mode of inheritance	8111	GPR68	OMIM:617217
HP:0000005	Mode of inheritance	10068	IL18BP	OMIM:618549
HP:0000005	Mode of inheritance	4261	CIITA	OMIM:209920
HP:0000005	Mode of inheritance	5994	RFXAP	OMIM:209920
HP:0000005	Mode of inheritance	5993	RFX5	OMIM:209920
HP:0000005	Mode of inheritance	8625	RFXANK	OMIM:209920
HP:0000005	Mode of inheritance	89869	PLCZ1	OMIM:617214
HP:0000005	Mode of inheritance	51692	CPSF3	OMIM:619876
HP:0000005	Mode of inheritance	6897	TARS1	OMIM:618546
HP:0000005	Mode of inheritance	116115	ZNF526	OMIM:619877
HP:0000005	Mode of inheritance	54456	MOV10L1	OMIM:619878
HP:0000005	Mode of inheritance	79770	TXNDC15	OMIM:619879
HP:0000005	Mode of inheritance	9091	PIGQ	OMIM:618548
HP:0000005	Mode of inheritance	27068	PPA2	OMIM:617223
HP:0000005	Mode of inheritance	27068	PPA2	OMIM:617222
HP:0000005	Mode of inheritance	5800	PTPRO	OMIM:614196
HP:0000005	Mode of inheritance	10991	SLC38A3	OMIM:619881
HP:0000005	Mode of inheritance	4285	MIPEP	OMIM:617228
HP:0000005	Mode of inheritance	641	BLM	OMIM:210900
HP:0000005	Mode of inheritance	2674	GFRA1	OMIM:619887
HP:0000005	Mode of inheritance	23007	PLCH1	OMIM:619895
HP:0000005	Mode of inheritance	442721	LMOD2	OMIM:619897
HP:0000005	Mode of inheritance	353238	PADI6	OMIM:617234
HP:0000005	Mode of inheritance	56983	POGLUT1	OMIM:617232
HP:0000005	Mode of inheritance	6572	SLC18A3	OMIM:617239
HP:0000005	Mode of inheritance	84131	CEP78	OMIM:617236
HP:0000005	Mode of inheritance	29960	MRM2	OMIM:618567
HP:0000005	Mode of inheritance	374969	SVBP	OMIM:618569
HP:0000005	Mode of inheritance	2184	FAH	OMIM:276700
HP:0000005	Mode of inheritance	845	CASQ2	OMIM:611938
HP:0000005	Mode of inheritance	6476	SI	OMIM:222900
HP:0000005	Mode of inheritance	56160	NSMCE3	OMIM:617241
HP:0000005	Mode of inheritance	26173	INTS1	OMIM:618571
HP:0000005	Mode of inheritance	55656	INTS8	OMIM:618572
HP:0000005	Mode of inheritance	10459	MAD2L2	OMIM:617243
HP:0000005	Mode of inheritance	7201	TRHR	OMIM:618573
HP:0000005	Mode of inheritance	27429	HTRA2	OMIM:617248
HP:0000005	Mode of inheritance	3242	HPD	OMIM:276710
HP:0000005	Mode of inheritance	165918	RNF168	OMIM:611943
HP:0000005	Mode of inheritance	343035	RD3	OMIM:610612
HP:0000005	Mode of inheritance	410	ARSA	OMIM:250100
HP:0000005	Mode of inheritance	3321	IGSF3	OMIM:149700
HP:0000005	Mode of inheritance	9361	LONP1	OMIM:600373
HP:0000005	Mode of inheritance	9488	PIGB	OMIM:618580
HP:0000005	Mode of inheritance	2243	FGA	OMIM:202400
HP:0000005	Mode of inheritance	2244	FGB	OMIM:202400
HP:0000005	Mode of inheritance	2266	FGG	OMIM:202400
HP:0000005	Mode of inheritance	286053	NSMCE2	OMIM:617253
HP:0000005	Mode of inheritance	7062	TCHH	OMIM:617252
HP:0000005	Mode of inheritance	7053	TGM3	OMIM:617251
HP:0000005	Mode of inheritance	160418	TMTC3	OMIM:617255
HP:0000005	Mode of inheritance	79912	PYROXD1	OMIM:617258
HP:0000005	Mode of inheritance	4967	OGDH	OMIM:203740
HP:0000005	Mode of inheritance	5309	PITX3	OMIM:610623
HP:0000005	Mode of inheritance	2161	F12	OMIM:234000
HP:0000005	Mode of inheritance	128869	PIGU	OMIM:618590
HP:0000005	Mode of inheritance	10677	AVIL	OMIM:618594
HP:0000005	Mode of inheritance	5053	PAH	OMIM:261600
HP:0000005	Mode of inheritance	427	ASAH1	OMIM:159950
HP:0000005	Mode of inheritance	427	ASAH1	OMIM:228000
HP:0000005	Mode of inheritance	23005	MAPKBP1	OMIM:617271
HP:0000005	Mode of inheritance	55250	ELP2	OMIM:617270
HP:0000005	Mode of inheritance	6777	STAT5B	OMIM:245590
HP:0000005	Mode of inheritance	4998	ORC1	OMIM:224690
HP:0000005	Mode of inheritance	1621	DBH	OMIM:223360
HP:0000005	Mode of inheritance	8120	AP3B2	OMIM:617276
HP:0000005	Mode of inheritance	284654	RSPO1	OMIM:610644
HP:0000005	Mode of inheritance	549	AUH	OMIM:250950
HP:0000005	Mode of inheritance	1009	CDH11	OMIM:211380
HP:0000005	Mode of inheritance	6821	SUOX	OMIM:272300
HP:0000005	Mode of inheritance	51102	MECR	OMIM:617282
HP:0000005	Mode of inheritance	6557	SLC12A1	OMIM:601678
HP:0000005	Mode of inheritance	23258	DENND5A	OMIM:617281
HP:0000005	Mode of inheritance	2009	EML1	OMIM:600348
HP:0000005	Mode of inheritance	55630	SLC39A4	OMIM:201100
HP:0000005	Mode of inheritance	38	ACAT1	OMIM:203750
HP:0000005	Mode of inheritance	4548	MTR	OMIM:250940
HP:0000005	Mode of inheritance	4548	MTR	OMIM:601634
HP:0000005	Mode of inheritance	11212	PLPBP	OMIM:617290
HP:0000005	Mode of inheritance	93650	ACP4	OMIM:617297
HP:0000005	Mode of inheritance	1285	COL4A3	OMIM:203780
HP:0000005	Mode of inheritance	1286	COL4A4	OMIM:203780
HP:0000005	Mode of inheritance	405753	DUOXA2	OMIM:274900
HP:0000005	Mode of inheritance	136647	MPLKIP	OMIM:234050
HP:0000005	Mode of inheritance	11322	TMC6	OMIM:226400
HP:0000005	Mode of inheritance	4716	NDUFB10	OMIM:619003
HP:0000005	Mode of inheritance	8567	MADD	OMIM:619004
HP:0000005	Mode of inheritance	8567	MADD	OMIM:619005
HP:0000005	Mode of inheritance	5106	PCK2	OMIM:261650
HP:0000005	Mode of inheritance	3419	IDH3A	OMIM:619007
HP:0000005	Mode of inheritance	343637	RSPO4	OMIM:206800
HP:0000005	Mode of inheritance	54766	BTG4	OMIM:619009
HP:0000005	Mode of inheritance	7284	TUFM	OMIM:610678
HP:0000005	Mode of inheritance	26278	SACS	OMIM:270550
HP:0000005	Mode of inheritance	5805	PTS	OMIM:261640
HP:0000005	Mode of inheritance	51168	MYO15A	OMIM:600316
HP:0000005	Mode of inheritance	63899	NSUN3	OMIM:619012
HP:0000005	Mode of inheritance	2193	FARSA	OMIM:619013
HP:0000005	Mode of inheritance	10491	CRTAP	OMIM:610682
HP:0000005	Mode of inheritance	203190	LGI3	OMIM:620007
HP:0000005	Mode of inheritance	5557	PRIM1	OMIM:620005
HP:0000005	Mode of inheritance	1073	CFL2	OMIM:610687
HP:0000005	Mode of inheritance	84081	NSRP1	OMIM:620001
HP:0000005	Mode of inheritance	253827	MSRB3	OMIM:613718
HP:0000005	Mode of inheritance	219844	HYLS1	OMIM:236680
HP:0000005	Mode of inheritance	51082	POLR1D	OMIM:613717
HP:0000005	Mode of inheritance	4644	MYO5A	OMIM:214450
HP:0000005	Mode of inheritance	64432	MRPS25	OMIM:619025
HP:0000005	Mode of inheritance	84842	HPDL	OMIM:619026
HP:0000005	Mode of inheritance	84842	HPDL	OMIM:619027
HP:0000005	Mode of inheritance	5860	QDPR	OMIM:261630
HP:0000005	Mode of inheritance	84274	COQ5	OMIM:619028
HP:0000005	Mode of inheritance	25793	FBXO7	OMIM:260300
HP:0000005	Mode of inheritance	125170	MIEF2	OMIM:619024
HP:0000005	Mode of inheritance	23236	PLCB1	OMIM:613722
HP:0000005	Mode of inheritance	29969	MDFIC	OMIM:620014
HP:0000005	Mode of inheritance	6342	SCP2	OMIM:613724
HP:0000005	Mode of inheritance	3082	HGF	OMIM:608265
HP:0000005	Mode of inheritance	55129	ANO10	OMIM:613728
HP:0000005	Mode of inheritance	65055	REEP1	OMIM:620011
HP:0000005	Mode of inheritance	50964	SOST	OMIM:269500
HP:0000005	Mode of inheritance	5784	PTPN14	OMIM:613611
HP:0000005	Mode of inheritance	57539	WDR35	OMIM:613610
HP:0000005	Mode of inheritance	57539	WDR35	OMIM:614091
HP:0000005	Mode of inheritance	283310	OTOGL	OMIM:614944
HP:0000005	Mode of inheritance	10466	COG5	OMIM:613612
HP:0000005	Mode of inheritance	130557	ZNF513	OMIM:613617
HP:0000005	Mode of inheritance	340990	OTOG	OMIM:614945
HP:0000005	Mode of inheritance	112817	HOGA1	OMIM:613616
HP:0000005	Mode of inheritance	2542	SLC37A4	OMIM:232220
HP:0000005	Mode of inheritance	2542	SLC37A4	OMIM:232240
HP:0000005	Mode of inheritance	146183	OTOA	OMIM:607039
HP:0000005	Mode of inheritance	768206	PRCD	OMIM:610599
HP:0000005	Mode of inheritance	90411	MCFD2	OMIM:613625
HP:0000005	Mode of inheritance	79048	SECISBP2	OMIM:609698
HP:0000005	Mode of inheritance	6439	SFTPB	OMIM:265120
HP:0000005	Mode of inheritance	5119	CHMP1A	OMIM:614961
HP:0000005	Mode of inheritance	3952	LEP	OMIM:614962
HP:0000005	Mode of inheritance	966	CD59	OMIM:612300
HP:0000005	Mode of inheritance	2538	G6PC1	OMIM:232200
HP:0000005	Mode of inheritance	8792	TNFRSF11A	OMIM:612301
HP:0000005	Mode of inheritance	3953	LEPR	OMIM:614963
HP:0000005	Mode of inheritance	5624	PROC	OMIM:612304
HP:0000005	Mode of inheritance	114034	TOE1	OMIM:614969
HP:0000005	Mode of inheritance	79583	TMEM231	OMIM:614970
HP:0000005	Mode of inheritance	79583	TMEM231	OMIM:615397
HP:0000005	Mode of inheritance	1954	MEGF8	OMIM:614976
HP:0000005	Mode of inheritance	340665	CYP26C1	OMIM:614974
HP:0000005	Mode of inheritance	51293	CD320	OMIM:613646
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607014
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607016
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607015
HP:0000005	Mode of inheritance	9907	AP5Z1	OMIM:613647
HP:0000005	Mode of inheritance	79152	FA2H	OMIM:612319
HP:0000005	Mode of inheritance	1629	DBT	OMIM:248600
HP:0000005	Mode of inheritance	593	BCKDHA	OMIM:248600
HP:0000005	Mode of inheritance	594	BCKDHB	OMIM:248600
HP:0000005	Mode of inheritance	8456	FOXN1	OMIM:601705
HP:0000005	Mode of inheritance	712	C1QA	OMIM:613652
HP:0000005	Mode of inheritance	10056	FARSB	OMIM:613658
HP:0000005	Mode of inheritance	54499	TMCO1	OMIM:213980
HP:0000005	Mode of inheritance	23175	LPIN1	OMIM:268200
HP:0000005	Mode of inheritance	92211	CDHR1	OMIM:613660
HP:0000005	Mode of inheritance	440138	ALG11	OMIM:613661
HP:0000005	Mode of inheritance	9440	MED17	OMIM:613668
HP:0000005	Mode of inheritance	286676	ILDR1	OMIM:609646
HP:0000005	Mode of inheritance	55084	SOBP	OMIM:613671
HP:0000005	Mode of inheritance	55149	MTPAP	OMIM:613672
HP:0000005	Mode of inheritance	440193	CCDC88C	OMIM:236600
HP:0000005	Mode of inheritance	3753	KCNE1	OMIM:612347
HP:0000005	Mode of inheritance	445	ASS1	OMIM:215700
HP:0000005	Mode of inheritance	4942	OAT	OMIM:258870
HP:0000005	Mode of inheritance	22856	CHSY1	OMIM:605282
HP:0000005	Mode of inheritance	79228	THOC6	OMIM:613680
HP:0000005	Mode of inheritance	91252	SLC39A13	OMIM:612350
HP:0000005	Mode of inheritance	5962	RDX	OMIM:611022
HP:0000005	Mode of inheritance	84667	HES7	OMIM:613686
HP:0000005	Mode of inheritance	57410	SCYL1	OMIM:616719
HP:0000005	Mode of inheritance	9663	LPIN2	OMIM:609628
HP:0000005	Mode of inheritance	64116	SLC39A8	OMIM:616721
HP:0000005	Mode of inheritance	1305	COL13A1	OMIM:616720
HP:0000005	Mode of inheritance	2622	GAS8	OMIM:616726
HP:0000005	Mode of inheritance	30062	RAX	OMIM:611038
HP:0000005	Mode of inheritance	6948	TCN2	OMIM:275350
HP:0000005	Mode of inheritance	89970	RSPRY1	OMIM:616723
HP:0000005	Mode of inheritance	3621	ING1	OMIM:275355
HP:0000005	Mode of inheritance	8795	TNFRSF10B	OMIM:275355
HP:0000005	Mode of inheritance	669	BPGM	OMIM:222800
HP:0000005	Mode of inheritance	57379	AICDA	OMIM:605258
HP:0000005	Mode of inheritance	83552	MFRP	OMIM:611040
HP:0000005	Mode of inheritance	83552	MFRP	OMIM:609549
HP:0000005	Mode of inheritance	10229	COQ7	OMIM:616733
HP:0000005	Mode of inheritance	11151	CORO1A	OMIM:615401
HP:0000005	Mode of inheritance	440275	EIF2AK4	OMIM:234810
HP:0000005	Mode of inheritance	84816	RTN4IP1	OMIM:616732
HP:0000005	Mode of inheritance	6900	CNTN2	OMIM:615400
HP:0000005	Mode of inheritance	2729	GCLC	OMIM:230450
HP:0000005	Mode of inheritance	7037	TFRC	OMIM:616740
HP:0000005	Mode of inheritance	2657	GDF1	OMIM:208530
HP:0000005	Mode of inheritance	80746	TSEN2	OMIM:612389
HP:0000005	Mode of inheritance	1911	PHC1	OMIM:615414
HP:0000005	Mode of inheritance	51151	SLC45A2	OMIM:606574
HP:0000005	Mode of inheritance	291	SLC25A4	OMIM:615418
HP:0000005	Mode of inheritance	118856	MMP21	OMIM:616749
HP:0000005	Mode of inheritance	259232	NALCN	OMIM:615419
HP:0000005	Mode of inheritance	79042	TSEN34	OMIM:612390
HP:0000005	Mode of inheritance	8985	PLOD3	OMIM:612394
HP:0000005	Mode of inheritance	57449	PLEKHG5	OMIM:611067
HP:0000005	Mode of inheritance	57449	PLEKHG5	OMIM:615376
HP:0000005	Mode of inheritance	57531	HACE1	OMIM:616756
HP:0000005	Mode of inheritance	84173	ELMOD3	OMIM:615429
HP:0000005	Mode of inheritance	10568	SLC34A2	OMIM:265100
HP:0000005	Mode of inheritance	1589	CYP21A2	OMIM:201910
HP:0000005	Mode of inheritance	4043	LRPAP1	OMIM:615431
HP:0000005	Mode of inheritance	147183	KRT25	OMIM:616760
HP:0000005	Mode of inheritance	5732	PTGER2	OMIM:208550
HP:0000005	Mode of inheritance	23568	ARL2BP	OMIM:615434
HP:0000005	Mode of inheritance	64857	PLEKHG2	OMIM:616763
HP:0000005	Mode of inheritance	3514	IGKC	OMIM:614102
HP:0000005	Mode of inheritance	51520	LARS1	OMIM:615438
HP:0000005	Mode of inheritance	4329	ALDH6A1	OMIM:614105
HP:0000005	Mode of inheritance	80781	COL18A1	OMIM:267750
HP:0000005	Mode of inheritance	10345	TRDN	OMIM:615441
HP:0000005	Mode of inheritance	5162	PDHB	OMIM:614111
HP:0000005	Mode of inheritance	60528	ELAC2	OMIM:615440
HP:0000005	Mode of inheritance	10293	TRAIP	OMIM:616777
HP:0000005	Mode of inheritance	9702	CEP57	OMIM:614114
HP:0000005	Mode of inheritance	92335	STRADA	OMIM:611087
HP:0000005	Mode of inheritance	84660	CCDC62	OMIM:619803
HP:0000005	Mode of inheritance	10319	LAMC3	OMIM:614115
HP:0000005	Mode of inheritance	51364	ZMYND10	OMIM:615444
HP:0000005	Mode of inheritance	5294	PIK3CG	OMIM:619802
HP:0000005	Mode of inheritance	9897	WASHC5	OMIM:220210
HP:0000005	Mode of inheritance	347688	TUBB8	OMIM:616780
HP:0000005	Mode of inheritance	54888	NSUN2	OMIM:611091
HP:0000005	Mode of inheritance	2898	GRIK2	OMIM:611092
HP:0000005	Mode of inheritance	7991	TUSC3	OMIM:611093
HP:0000005	Mode of inheritance	23247	KATNIP	OMIM:616784
HP:0000005	Mode of inheritance	1537	CYC1	OMIM:615453
HP:0000005	Mode of inheritance	55130	ODAD2	OMIM:615451
HP:0000005	Mode of inheritance	3655	ITGA6	OMIM:619817
HP:0000005	Mode of inheritance	8192	CLPP	OMIM:614129
HP:0000005	Mode of inheritance	170692	ADAMTS18	OMIM:615458
HP:0000005	Mode of inheritance	9939	RBM8A	OMIM:274000
HP:0000005	Mode of inheritance	115286	SLC25A26	OMIM:616794
HP:0000005	Mode of inheritance	4643	MYO1E	OMIM:614131
HP:0000005	Mode of inheritance	10892	MALT1	OMIM:615468
HP:0000005	Mode of inheritance	199720	GGN	OMIM:619826
HP:0000005	Mode of inheritance	1297	COL9A1	OMIM:614134
HP:0000005	Mode of inheritance	55367	PIDD1	OMIM:619827
HP:0000005	Mode of inheritance	5161	PDHA2	OMIM:619828
HP:0000005	Mode of inheritance	6929	TCF3	OMIM:619824
HP:0000005	Mode of inheritance	23141	ANKLE2	OMIM:616681
HP:0000005	Mode of inheritance	4099	MAG	OMIM:616680
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615350
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615351
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615352
HP:0000005	Mode of inheritance	5723	PSPH	OMIM:614023
HP:0000005	Mode of inheritance	9524	TECR	OMIM:614020
HP:0000005	Mode of inheritance	2132	EXT2	OMIM:616682
HP:0000005	Mode of inheritance	253017	TECRL	OMIM:614021
HP:0000005	Mode of inheritance	51126	NAA20	OMIM:619717
HP:0000005	Mode of inheritance	3990	LIPC	OMIM:614025
HP:0000005	Mode of inheritance	60684	TRAPPC11	OMIM:615356
HP:0000005	Mode of inheritance	19	ABCA1	OMIM:205400
HP:0000005	Mode of inheritance	144132	DNHD1	OMIM:619712
HP:0000005	Mode of inheritance	6898	TAT	OMIM:276600
HP:0000005	Mode of inheritance	84942	WDR73	OMIM:251300
HP:0000005	Mode of inheritance	10060	ABCC9	OMIM:619719
HP:0000005	Mode of inheritance	3891	KRT85	OMIM:602032
HP:0000005	Mode of inheritance	3162	HMOX1	OMIM:614034
HP:0000005	Mode of inheritance	8722	CTSF	OMIM:615362
HP:0000005	Mode of inheritance	5322	PLA2G5	OMIM:228980
HP:0000005	Mode of inheritance	2175	FANCA	OMIM:227650
HP:0000005	Mode of inheritance	4056	LTC4S	OMIM:614037
HP:0000005	Mode of inheritance	1785	DNM2	OMIM:615368
HP:0000005	Mode of inheritance	79639	TMEM53	OMIM:619727
HP:0000005	Mode of inheritance	23562	CLDN14	OMIM:614035
HP:0000005	Mode of inheritance	140803	TRPM6	OMIM:602014
HP:0000005	Mode of inheritance	84572	GNPTG	OMIM:252605
HP:0000005	Mode of inheritance	196527	ANO6	OMIM:262890
HP:0000005	Mode of inheritance	9364	RAB28	OMIM:615374
HP:0000005	Mode of inheritance	9692	PRORP	OMIM:619737
HP:0000005	Mode of inheritance	4160	MC4R	OMIM:618406
HP:0000005	Mode of inheritance	51319	RSRC1	OMIM:618402
HP:0000005	Mode of inheritance	7920	ABHD16A	OMIM:619735
HP:0000005	Mode of inheritance	8560	DEGS1	OMIM:618404
HP:0000005	Mode of inheritance	4323	MMP14	OMIM:277950
HP:0000005	Mode of inheritance	203286	ANKS6	OMIM:615382
HP:0000005	Mode of inheritance	54968	TMEM70	OMIM:614052
HP:0000005	Mode of inheritance	388551	CEACAM16	OMIM:618410
HP:0000005	Mode of inheritance	5442	POLRMT	OMIM:619743
HP:0000005	Mode of inheritance	6712	SPTBN2	OMIM:615386
HP:0000005	Mode of inheritance	28755	TRAC	OMIM:615387
HP:0000005	Mode of inheritance	514	ATP5F1E	OMIM:614053
HP:0000005	Mode of inheritance	269	AMHR2	OMIM:261550
HP:0000005	Mode of inheritance	268	AMH	OMIM:261550
HP:0000005	Mode of inheritance	55012	PPP2R3C	OMIM:618419
HP:0000005	Mode of inheritance	4632	MYL1	OMIM:618414
HP:0000005	Mode of inheritance	200734	SPRED2	OMIM:619745
HP:0000005	Mode of inheritance	23268	DNMBP	OMIM:618415
HP:0000005	Mode of inheritance	284439	SLC25A42	OMIM:618416
HP:0000005	Mode of inheritance	9529	BAG5	OMIM:619747
HP:0000005	Mode of inheritance	339983	NAT8L	OMIM:614063
HP:0000005	Mode of inheritance	23262	PPIP5K2	OMIM:618422
HP:0000005	Mode of inheritance	10717	AP4B1	OMIM:614066
HP:0000005	Mode of inheritance	11154	AP4S1	OMIM:614067
HP:0000005	Mode of inheritance	65080	MRPL44	OMIM:615395
HP:0000005	Mode of inheritance	199223	TTC21A	OMIM:618429
HP:0000005	Mode of inheritance	9841	ZBTB24	OMIM:614069
HP:0000005	Mode of inheritance	4808	NHLH2	OMIM:619755
HP:0000005	Mode of inheritance	2592	GALT	OMIM:230400
HP:0000005	Mode of inheritance	7701	ZNF142	OMIM:618425
HP:0000005	Mode of inheritance	1180	CLCN1	OMIM:255700
HP:0000005	Mode of inheritance	285362	SUMF1	OMIM:272200
HP:0000005	Mode of inheritance	89781	HPS4	OMIM:614073
HP:0000005	Mode of inheritance	150365	MEI1	OMIM:618431
HP:0000005	Mode of inheritance	11234	HPS5	OMIM:614074
HP:0000005	Mode of inheritance	79703	TOP6BL	OMIM:618432
HP:0000005	Mode of inheritance	84071	ARMC2	OMIM:618433
HP:0000005	Mode of inheritance	84343	HPS3	OMIM:614072
HP:0000005	Mode of inheritance	388552	BLOC1S3	OMIM:614077
HP:0000005	Mode of inheritance	54928	BPNT2	OMIM:614078
HP:0000005	Mode of inheritance	51098	IFT52	OMIM:617102
HP:0000005	Mode of inheritance	79803	HPS6	OMIM:614075
HP:0000005	Mode of inheritance	84062	DTNBP1	OMIM:614076
HP:0000005	Mode of inheritance	9158	FIBP	OMIM:617107
HP:0000005	Mode of inheritance	25973	PARS2	OMIM:618437
HP:0000005	Mode of inheritance	11261	CHP1	OMIM:618438
HP:0000005	Mode of inheritance	540	ATP7B	OMIM:277900
HP:0000005	Mode of inheritance	2035	EPB41	OMIM:611804
HP:0000005	Mode of inheritance	7439	BEST1	OMIM:611809
HP:0000005	Mode of inheritance	2651	GCNT2	OMIM:116700
HP:0000005	Mode of inheritance	23556	PIGN	OMIM:614080
HP:0000005	Mode of inheritance	3978	LIG1	OMIM:619774
HP:0000005	Mode of inheritance	4123	MAN2C1	OMIM:619775
HP:0000005	Mode of inheritance	55120	FANCL	OMIM:614083
HP:0000005	Mode of inheritance	339855	KY	OMIM:617114
HP:0000005	Mode of inheritance	5286	PIK3C2A	OMIM:618440
HP:0000005	Mode of inheritance	5818	NECTIN1	OMIM:225060
HP:0000005	Mode of inheritance	5271	SERPINB8	OMIM:617115
HP:0000005	Mode of inheritance	246176	GAS2L2	OMIM:618449
HP:0000005	Mode of inheritance	54361	WNT4	OMIM:611812
HP:0000005	Mode of inheritance	57192	MCOLN1	OMIM:252650
HP:0000005	Mode of inheritance	79628	SH3TC2	OMIM:601596
HP:0000005	Mode of inheritance	81704	DOCK8	OMIM:243700
HP:0000005	Mode of inheritance	26100	WIPI2	OMIM:618453
HP:0000005	Mode of inheritance	10750	GRAP	OMIM:618456
HP:0000005	Mode of inheritance	1308	COL17A1	OMIM:619787
HP:0000005	Mode of inheritance	79882	ZC3H14	OMIM:617125
HP:0000005	Mode of inheritance	3980	LIG3	OMIM:619780
HP:0000005	Mode of inheritance	84695	LOXL3	OMIM:619781
HP:0000005	Mode of inheritance	847	CAT	OMIM:614097
HP:0000005	Mode of inheritance	3658	IREB2	OMIM:618451
HP:0000005	Mode of inheritance	6878	TAF6	OMIM:617126
HP:0000005	Mode of inheritance	124976	SPNS2	OMIM:618457
HP:0000005	Mode of inheritance	29127	RACGAP1	OMIM:619789
HP:0000005	Mode of inheritance	9138	ARHGEF1	OMIM:618459
HP:0000005	Mode of inheritance	79876	UBA5	OMIM:617132
HP:0000005	Mode of inheritance	79876	UBA5	OMIM:617133
HP:0000005	Mode of inheritance	79879	CCDC134	OMIM:619795
HP:0000005	Mode of inheritance	8288	EPX	OMIM:261500
HP:0000005	Mode of inheritance	54892	NCAPG2	OMIM:618460
HP:0000005	Mode of inheritance	2048	EPHB2	OMIM:618462
HP:0000005	Mode of inheritance	335	APOA1	OMIM:618463
HP:0000005	Mode of inheritance	51412	ACTL6B	OMIM:618468
HP:0000005	Mode of inheritance	11055	ZPBP	OMIM:619799
HP:0000005	Mode of inheritance	4621	MYH3	OMIM:618469
HP:0000005	Mode of inheritance	3875	KRT18	OMIM:215600
HP:0000005	Mode of inheritance	4143	MAT1A	OMIM:250850
HP:0000005	Mode of inheritance	10102	TSFM	OMIM:610505
HP:0000005	Mode of inheritance	60482	SLC5A7	OMIM:617143
HP:0000005	Mode of inheritance	1436	CSF1R	OMIM:618476
HP:0000005	Mode of inheritance	9154	SLC28A1	OMIM:618477
HP:0000005	Mode of inheritance	63895	PIEZO2	OMIM:617146
HP:0000005	Mode of inheritance	8878	SQSTM1	OMIM:617145
HP:0000005	Mode of inheritance	4081	MAB21L1	OMIM:618479
HP:0000005	Mode of inheritance	1725	DHPS	OMIM:618480
HP:0000005	Mode of inheritance	124842	TMEM132E	OMIM:618481
HP:0000005	Mode of inheritance	2159	F10	OMIM:227600
HP:0000005	Mode of inheritance	4125	MAN2B1	OMIM:248500
HP:0000005	Mode of inheritance	54496	PRMT7	OMIM:617157
HP:0000005	Mode of inheritance	7019	TFAM	OMIM:617156
HP:0000005	Mode of inheritance	444	ASPH	OMIM:601552
HP:0000005	Mode of inheritance	3158	HMGCS2	OMIM:605911
HP:0000005	Mode of inheritance	1781	DYNC1I2	OMIM:618492
HP:0000005	Mode of inheritance	774	CACNA1B	OMIM:618497
HP:0000005	Mode of inheritance	285600	KIAA0825	OMIM:618498
HP:0000005	Mode of inheritance	3977	LIFR	OMIM:601559
HP:0000005	Mode of inheritance	54681	P4HTM	OMIM:618493
HP:0000005	Mode of inheritance	4126	MANBA	OMIM:248510
HP:0000005	Mode of inheritance	3560	IL2RB	OMIM:618495
HP:0000005	Mode of inheritance	84668	HYCC1	OMIM:610532
HP:0000005	Mode of inheritance	6690	SPINK1	OMIM:608189
HP:0000005	Mode of inheritance	650	BMP2	OMIM:235200
HP:0000005	Mode of inheritance	10522	DEAF1	OMIM:617171
HP:0000005	Mode of inheritance	4882	NPR2	OMIM:602875
HP:0000005	Mode of inheritance	2998	GYS2	OMIM:240600
HP:0000005	Mode of inheritance	55213	RCBTB1	OMIM:617175
HP:0000005	Mode of inheritance	65018	PINK1	OMIM:605909
HP:0000005	Mode of inheritance	6424	SFRP4	OMIM:265900
HP:0000005	Mode of inheritance	10681	GNB5	OMIM:617173
HP:0000005	Mode of inheritance	10681	GNB5	OMIM:617182
HP:0000005	Mode of inheritance	145173	B3GLCT	OMIM:261540
HP:0000005	Mode of inheritance	10653	SPINT2	OMIM:270420
HP:0000005	Mode of inheritance	140732	SUN5	OMIM:617187
HP:0000005	Mode of inheritance	128240	NAXE	OMIM:617186
HP:0000005	Mode of inheritance	3198	HOXA1	OMIM:601536
HP:0000005	Mode of inheritance	51715	RAB23	OMIM:201000
HP:0000005	Mode of inheritance	79143	MBOAT7	OMIM:617188
HP:0000005	Mode of inheritance	7137	TNNI3	OMIM:611880
HP:0000005	Mode of inheritance	197	AHSG	OMIM:203650
HP:0000005	Mode of inheritance	226	ALDOA	OMIM:611881
HP:0000005	Mode of inheritance	81622	UNC93B1	OMIM:610551
HP:0000005	Mode of inheritance	8701	DNAH11	OMIM:611884
HP:0000005	Mode of inheritance	4604	MYBPC1	OMIM:614915
HP:0000005	Mode of inheritance	4222	MEOX1	OMIM:214300
HP:0000005	Mode of inheritance	342035	GLDN	OMIM:617194
HP:0000005	Mode of inheritance	6904	TBCD	OMIM:617193
HP:0000005	Mode of inheritance	2177	FANCD2	OMIM:227646
HP:0000005	Mode of inheritance	5345	SERPINF2	OMIM:262850
HP:0000005	Mode of inheritance	2176	FANCC	OMIM:227645
HP:0000005	Mode of inheritance	5236	PGM1	OMIM:614921
HP:0000005	Mode of inheritance	55005	RMND1	OMIM:614922
HP:0000005	Mode of inheritance	8799	PEX11B	OMIM:614920
HP:0000005	Mode of inheritance	3295	HSD17B4	OMIM:261515
HP:0000005	Mode of inheritance	3295	HSD17B4	OMIM:233400
HP:0000005	Mode of inheritance	23438	HARS2	OMIM:614926
HP:0000005	Mode of inheritance	124454	EARS2	OMIM:614924
HP:0000005	Mode of inheritance	121391	KRT74	OMIM:614929
HP:0000005	Mode of inheritance	55074	OXR1	OMIM:213000
HP:0000005	Mode of inheritance	389434	IYD	OMIM:274800
HP:0000005	Mode of inheritance	3827	KNG1	OMIM:228960
HP:0000005	Mode of inheritance	87178	PNPT1	OMIM:614932
HP:0000005	Mode of inheritance	87178	PNPT1	OMIM:614934
HP:0000005	Mode of inheritance	3708	ITPR1	OMIM:206700
HP:0000005	Mode of inheritance	3229	HOXC13	OMIM:614931
HP:0000005	Mode of inheritance	3480	IGF1R	OMIM:270450
HP:0000005	Mode of inheritance	23639	DNAAF11	OMIM:614935
HP:0000005	Mode of inheritance	374407	DNAJB13	OMIM:617091
HP:0000005	Mode of inheritance	11113	CIT	OMIM:617090
HP:0000005	Mode of inheritance	10128	LRPPRC	OMIM:220111
HP:0000005	Mode of inheritance	64327	LMBR1	OMIM:200500
HP:0000005	Mode of inheritance	3376	IARS1	OMIM:617093
HP:0000005	Mode of inheritance	83538	ODAD4	OMIM:617092
HP:0000005	Mode of inheritance	7172	TPMT	OMIM:610460
HP:0000005	Mode of inheritance	6091	ROBO1	OMIM:257400
HP:0000005	Mode of inheritance	11136	SLC7A9	OMIM:220100
HP:0000005	Mode of inheritance	6519	SLC3A1	OMIM:220100
HP:0000005	Mode of inheritance	8443	GNPAT	OMIM:222765
HP:0000005	Mode of inheritance	973	CD79A	OMIM:613501
HP:0000005	Mode of inheritance	25914	RTTN	OMIM:614833
HP:0000005	Mode of inheritance	3543	IGLL1	OMIM:613500
HP:0000005	Mode of inheritance	1824	DSC2	OMIM:610476
HP:0000005	Mode of inheritance	2911	GRM1	OMIM:614831
HP:0000005	Mode of inheritance	29760	BLNK	OMIM:613502
HP:0000005	Mode of inheritance	152816	ODAPH	OMIM:614832
HP:0000005	Mode of inheritance	93589	CACNA2D4	OMIM:610478
HP:0000005	Mode of inheritance	84634	KISS1R	OMIM:614837
HP:0000005	Mode of inheritance	6866	TAC3	OMIM:614839
HP:0000005	Mode of inheritance	6870	TACR3	OMIM:614840
HP:0000005	Mode of inheritance	23090	ZNF423	OMIM:614844
HP:0000005	Mode of inheritance	22897	CEP164	OMIM:614845
HP:0000005	Mode of inheritance	3814	KISS1	OMIM:614842
HP:0000005	Mode of inheritance	646960	PRSS56	OMIM:613517
HP:0000005	Mode of inheritance	8546	AP3B1	OMIM:608233
HP:0000005	Mode of inheritance	8802	SUCLG1	OMIM:245400
HP:0000005	Mode of inheritance	1717	DHCR7	OMIM:270400
HP:0000005	Mode of inheritance	132158	GLYCTK	OMIM:220120
HP:0000005	Mode of inheritance	51199	NIN	OMIM:614851
HP:0000005	Mode of inheritance	649	BMP1	OMIM:614856
HP:0000005	Mode of inheritance	51021	MRPS16	OMIM:610498
HP:0000005	Mode of inheritance	221496	LEMD2	OMIM:212500
HP:0000005	Mode of inheritance	5826	ABCD4	OMIM:614857
HP:0000005	Mode of inheritance	6911	TBX6	OMIM:122600
HP:0000005	Mode of inheritance	1727	CYB5R3	OMIM:250800
HP:0000005	Mode of inheritance	116085	SLC22A12	OMIM:220150
HP:0000005	Mode of inheritance	197257	LDHD	OMIM:245450
HP:0000005	Mode of inheritance	5190	PEX6	OMIM:614862
HP:0000005	Mode of inheritance	5190	PEX6	OMIM:614863
HP:0000005	Mode of inheritance	5190	PEX6	OMIM:616617
HP:0000005	Mode of inheritance	7498	XDH	OMIM:278300
HP:0000005	Mode of inheritance	5828	PEX2	OMIM:614866
HP:0000005	Mode of inheritance	5828	PEX2	OMIM:614867
HP:0000005	Mode of inheritance	6789	STK4	OMIM:614868
HP:0000005	Mode of inheritance	55165	CEP55	OMIM:236500
HP:0000005	Mode of inheritance	64837	KLC2	OMIM:609541
HP:0000005	Mode of inheritance	78989	COLEC11	OMIM:265050
HP:0000005	Mode of inheritance	3208	HPCA	OMIM:224500
HP:0000005	Mode of inheritance	727	C5	OMIM:609536
HP:0000005	Mode of inheritance	5192	PEX10	OMIM:614870
HP:0000005	Mode of inheritance	5192	PEX10	OMIM:614871
HP:0000005	Mode of inheritance	55670	PEX26	OMIM:614873
HP:0000005	Mode of inheritance	55670	PEX26	OMIM:614872
HP:0000005	Mode of inheritance	54919	DNAAF5	OMIM:614874
HP:0000005	Mode of inheritance	9409	PEX16	OMIM:614877
HP:0000005	Mode of inheritance	9409	PEX16	OMIM:614876
HP:0000005	Mode of inheritance	1588	CYP19A1	OMIM:613546
HP:0000005	Mode of inheritance	7837	PXDN	OMIM:269400
HP:0000005	Mode of inheritance	9342	SNAP29	OMIM:609528
HP:0000005	Mode of inheritance	3300	DNAJB2	OMIM:614881
HP:0000005	Mode of inheritance	5194	PEX13	OMIM:614885
HP:0000005	Mode of inheritance	5194	PEX13	OMIM:614883
HP:0000005	Mode of inheritance	50628	GEMIN4	OMIM:617913
HP:0000005	Mode of inheritance	3460	IFNGR2	OMIM:614889
HP:0000005	Mode of inheritance	5824	PEX19	OMIM:614886
HP:0000005	Mode of inheritance	2056	EPO	OMIM:617911
HP:0000005	Mode of inheritance	5195	PEX14	OMIM:614887
HP:0000005	Mode of inheritance	1384	CRAT	OMIM:617917
HP:0000005	Mode of inheritance	85021	REPS1	OMIM:617916
HP:0000005	Mode of inheritance	4990	SIX6	OMIM:212550
HP:0000005	Mode of inheritance	80067	DCAF17	OMIM:241080
HP:0000005	Mode of inheritance	3594	IL12RB1	OMIM:614891
HP:0000005	Mode of inheritance	51067	YARS2	OMIM:613561
HP:0000005	Mode of inheritance	3593	IL12B	OMIM:614890
HP:0000005	Mode of inheritance	10457	GPNMB	OMIM:617920
HP:0000005	Mode of inheritance	776	CACNA1D	OMIM:614896
HP:0000005	Mode of inheritance	3329	HSPD1	OMIM:612233
HP:0000005	Mode of inheritance	27152	INTU	OMIM:617925
HP:0000005	Mode of inheritance	27152	INTU	OMIM:617926
HP:0000005	Mode of inheritance	51475	CABP2	OMIM:614899
HP:0000005	Mode of inheritance	1261	CNGA3	OMIM:216900
HP:0000005	Mode of inheritance	137492	VPS37A	OMIM:614898
HP:0000005	Mode of inheritance	10695	CNPY3	OMIM:617929
HP:0000005	Mode of inheritance	55081	IFT57	OMIM:617927
HP:0000005	Mode of inheritance	7051	TGM1	OMIM:242300
HP:0000005	Mode of inheritance	81607	NECTIN4	OMIM:613573
HP:0000005	Mode of inheritance	590	BCHE	OMIM:617936
HP:0000005	Mode of inheritance	53616	ADAM22	OMIM:617933
HP:0000005	Mode of inheritance	50939	IMPG2	OMIM:613581
HP:0000005	Mode of inheritance	79631	EFL1	OMIM:617941
HP:0000005	Mode of inheritance	51116	MRPS2	OMIM:617950
HP:0000005	Mode of inheritance	9512	PMPCB	OMIM:617954
HP:0000005	Mode of inheritance	6097	RORC	OMIM:616622
HP:0000005	Mode of inheritance	55603	TENT5A	OMIM:617952
HP:0000005	Mode of inheritance	2058	EPRS1	OMIM:617951
HP:0000005	Mode of inheritance	1063	CENPF	OMIM:243605
HP:0000005	Mode of inheritance	26146	TRAF3IP1	OMIM:616629
HP:0000005	Mode of inheritance	79846	CFAP69	OMIM:617959
HP:0000005	Mode of inheritance	9056	SLC7A7	OMIM:222700
HP:0000005	Mode of inheritance	3549	IHH	OMIM:607778
HP:0000005	Mode of inheritance	1757	SARDH	OMIM:268900
HP:0000005	Mode of inheritance	80705	TSGA10	OMIM:617961
HP:0000005	Mode of inheritance	56154	TEX15	OMIM:617960
HP:0000005	Mode of inheritance	122481	AK7	OMIM:617965
HP:0000005	Mode of inheritance	1729	DIAPH1	OMIM:616632
HP:0000005	Mode of inheritance	175	AGA	OMIM:208400
HP:0000005	Mode of inheritance	5116	PCNT	OMIM:210720
HP:0000005	Mode of inheritance	27130	INVS	OMIM:602088
HP:0000005	Mode of inheritance	8820	HESX1	OMIM:182230
HP:0000005	Mode of inheritance	51128	SAR1B	OMIM:246700
HP:0000005	Mode of inheritance	2328	FMO3	OMIM:602079
HP:0000005	Mode of inheritance	401	PHOX2A	OMIM:602078
HP:0000005	Mode of inheritance	80270	HSD3B7	OMIM:607765
HP:0000005	Mode of inheritance	6505	SLC1A1	OMIM:222730
HP:0000005	Mode of inheritance	348938	NIPAL4	OMIM:612281
HP:0000005	Mode of inheritance	56978	PRDM8	OMIM:616640
HP:0000005	Mode of inheritance	2588	GALNS	OMIM:253000
HP:0000005	Mode of inheritance	3704	ITPA	OMIM:616647
HP:0000005	Mode of inheritance	56270	WDR45B	OMIM:617977
HP:0000005	Mode of inheritance	79783	SUGCT	OMIM:231690
HP:0000005	Mode of inheritance	3199	HOXA2	OMIM:612290
HP:0000005	Mode of inheritance	200894	ARL13B	OMIM:612291
HP:0000005	Mode of inheritance	9918	NCAPD2	OMIM:617983
HP:0000005	Mode of inheritance	23397	NCAPH	OMIM:617985
HP:0000005	Mode of inheritance	23310	NCAPD3	OMIM:617984
HP:0000005	Mode of inheritance	6509	SLC1A4	OMIM:616657
HP:0000005	Mode of inheritance	54676	GTPBP2	OMIM:617988
HP:0000005	Mode of inheritance	100506658	OCLN	OMIM:251290
HP:0000005	Mode of inheritance	3284	HSD3B2	OMIM:201810
HP:0000005	Mode of inheritance	9365	KL	OMIM:617994
HP:0000005	Mode of inheritance	494551	WEE2	OMIM:617996
HP:0000005	Mode of inheritance	8815	BANF1	OMIM:614008
HP:0000005	Mode of inheritance	3455	IFNAR2	OMIM:616669
HP:0000005	Mode of inheritance	51294	PCDH12	OMIM:251280
HP:0000005	Mode of inheritance	1807	DPYS	OMIM:222748
HP:0000005	Mode of inheritance	2639	GCDH	OMIM:231670
HP:0000005	Mode of inheritance	10516	FBLN5	OMIM:219100
HP:0000005	Mode of inheritance	7148	TNXB	OMIM:606408
HP:0000005	Mode of inheritance	4747	NEFL	OMIM:607734
HP:0000005	Mode of inheritance	79587	CARS2	OMIM:616672
HP:0000005	Mode of inheritance	85378	TUBGCP6	OMIM:251270
HP:0000005	Mode of inheritance	96459	FNIP1	OMIM:619705
HP:0000005	Mode of inheritance	55753	OGDHL	OMIM:619701
HP:0000005	Mode of inheritance	131377	KLHL40	OMIM:615348
HP:0000005	Mode of inheritance	83544	DNAL1	OMIM:614017
HP:0000005	Mode of inheritance	100128908	CIROP	OMIM:619702
HP:0000005	Mode of inheritance	2108	ETFA	OMIM:231680
HP:0000005	Mode of inheritance	2109	ETFB	OMIM:231680
HP:0000005	Mode of inheritance	2110	ETFDH	OMIM:231680
HP:0000005	Mode of inheritance	8328	GFI1B	OMIM:187900
HP:0000005	Mode of inheritance	2582	GALE	OMIM:230350
HP:0000005	Mode of inheritance	1121	CHM	OMIM:303100
HP:0000005	Mode of inheritance	9210	BMP15	OMIM:300510
HP:0000005	Mode of inheritance	6658	SOX3	OMIM:300123
HP:0000005	Mode of inheritance	6658	SOX3	OMIM:312000
HP:0000005	Mode of inheritance	57526	PCDH19	OMIM:300088
HP:0000005	Mode of inheritance	79868	ALG13	OMIM:300884
HP:0000005	Mode of inheritance	7552	ZNF711	OMIM:300803
HP:0000005	Mode of inheritance	3149	HMGB3	OMIM:300915
HP:0000005	Mode of inheritance	54885	TBC1D8B	OMIM:301028
HP:0000005	Mode of inheritance	50945	TBX22	OMIM:302905
HP:0000005	Mode of inheritance	50945	TBX22	OMIM:303400
HP:0000005	Mode of inheritance	6102	RP2	OMIM:312600
HP:0000005	Mode of inheritance	90167	FRMD7	OMIM:310700
HP:0000005	Mode of inheritance	6907	TBL1X	OMIM:301033
HP:0000005	Mode of inheritance	4007	PRICKLE3	OMIM:308905
HP:0000005	Mode of inheritance	10149	ADGRG2	OMIM:300985
HP:0000005	Mode of inheritance	51114	ZDHHC9	OMIM:300799
HP:0000005	Mode of inheritance	22866	CNKSR2	OMIM:301008
HP:0000005	Mode of inheritance	63932	STEEP1	OMIM:301013
HP:0000005	Mode of inheritance	407	ARR3	OMIM:301010
HP:0000005	Mode of inheritance	7504	XK	OMIM:300842
HP:0000005	Mode of inheritance	2556	GABRA3	OMIM:301091
HP:0000005	Mode of inheritance	1438	CSF2RA	OMIM:300770
HP:0000005	Mode of inheritance	51311	TLR8	OMIM:301078
HP:0000005	Mode of inheritance	2742	GLRA2	OMIM:301076
HP:0000005	Mode of inheritance	93953	GCNA	OMIM:301077
HP:0000005	Mode of inheritance	54413	NLGN3	OMIM:300425
HP:0000005	Mode of inheritance	10075	HUWE1	OMIM:309590
HP:0000005	Mode of inheritance	3476	IGBP1	OMIM:300472
HP:0000005	Mode of inheritance	778	CACNA1F	OMIM:300476
HP:0000005	Mode of inheritance	8450	CUL4B	OMIM:300354
HP:0000005	Mode of inheritance	10134	BCAP31	OMIM:300475
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300232
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:310490
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300614
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300816
HP:0000005	Mode of inheritance	6535	SLC6A8	OMIM:300352
HP:0000005	Mode of inheritance	27316	RBMX	OMIM:300238
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:300911
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:300423
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:301045
HP:0000005	Mode of inheritance	5009	OTC	OMIM:311250
HP:0000005	Mode of inheritance	4693	NDP	OMIM:310600
HP:0000005	Mode of inheritance	4693	NDP	OMIM:305390
HP:0000005	Mode of inheritance	1736	DKC1	OMIM:305000
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:304150
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:300489
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:309400
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:308990
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:300009
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:300554
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:310468
HP:0000005	Mode of inheritance	2158	F9	OMIM:306900
HP:0000005	Mode of inheritance	2158	F9	OMIM:300807
HP:0000005	Mode of inheritance	4983	OPHN1	OMIM:300486
HP:0000005	Mode of inheritance	10479	SLC9A6	OMIM:300243
HP:0000005	Mode of inheritance	4281	MID1	OMIM:300000
HP:0000005	Mode of inheritance	24137	KIF4A	OMIM:300923
HP:0000005	Mode of inheritance	6855	SYP	OMIM:300802
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:300918
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:308800
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:301014
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:308205
HP:0000005	Mode of inheritance	1288	COL4A6	OMIM:300914
HP:0000005	Mode of inheritance	7102	TSPAN7	OMIM:300210
HP:0000005	Mode of inheritance	2892	GRIA3	OMIM:300699
HP:0000005	Mode of inheritance	6103	RPGR	OMIM:300455
HP:0000005	Mode of inheritance	6103	RPGR	OMIM:300834
HP:0000005	Mode of inheritance	22	ABCB7	OMIM:301310
HP:0000005	Mode of inheritance	1678	TIMM8A	OMIM:304700
HP:0000005	Mode of inheritance	215	ABCD1	OMIM:300100
HP:0000005	Mode of inheritance	633	BGN	OMIM:300106
HP:0000005	Mode of inheritance	6399	TRAPPC2	OMIM:313400
HP:0000005	Mode of inheritance	8241	RBM10	OMIM:311900
HP:0000005	Mode of inheritance	30011	SH3KBP1	OMIM:300310
HP:0000005	Mode of inheritance	4952	OCRL	OMIM:300555
HP:0000005	Mode of inheritance	4952	OCRL	OMIM:309000
HP:0000005	Mode of inheritance	65109	UPF3B	OMIM:300676
HP:0000005	Mode of inheritance	5956	OPN1LW	OMIM:303700
HP:0000005	Mode of inheritance	5956	OPN1LW	OMIM:303900
HP:0000005	Mode of inheritance	2652	OPN1MW	OMIM:303700
HP:0000005	Mode of inheritance	2652	OPN1MW	OMIM:303800
HP:0000005	Mode of inheritance	5255	PHKA1	OMIM:300559
HP:0000005	Mode of inheritance	5063	PAK3	OMIM:300558
HP:0000005	Mode of inheritance	54440	SASH3	OMIM:301082
HP:0000005	Mode of inheritance	56159	TEX11	OMIM:309120
HP:0000005	Mode of inheritance	492	ATP2B3	OMIM:302500
HP:0000005	Mode of inheritance	3251	HPRT1	OMIM:300322
HP:0000005	Mode of inheritance	3251	HPRT1	OMIM:300323
HP:0000005	Mode of inheritance	190	NR0B1	OMIM:300200
HP:0000005	Mode of inheritance	2187	FANCB	OMIM:314390
HP:0000005	Mode of inheritance	2187	FANCB	OMIM:300514
HP:0000005	Mode of inheritance	7547	ZIC3	OMIM:314390
HP:0000005	Mode of inheritance	7547	ZIC3	OMIM:306955
HP:0000005	Mode of inheritance	554	AVPR2	OMIM:304800
HP:0000005	Mode of inheritance	554	AVPR2	OMIM:300539
HP:0000005	Mode of inheritance	6901	TAFAZZIN	OMIM:302060
HP:0000005	Mode of inheritance	2258	FGF13	OMIM:301095
HP:0000005	Mode of inheritance	2258	FGF13	OMIM:301058
HP:0000005	Mode of inheritance	415	ARSL	OMIM:302950
HP:0000005	Mode of inheritance	5354	PLP1	OMIM:312080
HP:0000005	Mode of inheritance	5354	PLP1	OMIM:312920
HP:0000005	Mode of inheritance	8242	KDM5C	OMIM:300534
HP:0000005	Mode of inheritance	5230	PGK1	OMIM:300653
HP:0000005	Mode of inheritance	2717	GLA	OMIM:301500
HP:0000005	Mode of inheritance	3423	IDS	OMIM:309900
HP:0000005	Mode of inheritance	254065	BRWD3	OMIM:300659
HP:0000005	Mode of inheritance	6611	SMS	OMIM:309583
HP:0000005	Mode of inheritance	81887	LAS1L	OMIM:309585
HP:0000005	Mode of inheritance	9075	CLDN2	OMIM:301060
HP:0000005	Mode of inheritance	2000	ELF4	OMIM:301074
HP:0000005	Mode of inheritance	3730	ANOS1	OMIM:308700
HP:0000005	Mode of inheritance	1536	CYBB	OMIM:306400
HP:0000005	Mode of inheritance	1536	CYBB	OMIM:300645
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:304100
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:303350
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:307000
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:300661
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:311070
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:301835
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:304500
HP:0000005	Mode of inheritance	6872	TAF1	OMIM:314250
HP:0000005	Mode of inheritance	6872	TAF1	OMIM:300966
HP:0000005	Mode of inheritance	170302	ARX	OMIM:300419
HP:0000005	Mode of inheritance	170302	ARX	OMIM:308350
HP:0000005	Mode of inheritance	170302	ARX	OMIM:309510
HP:0000005	Mode of inheritance	8905	AP1S2	OMIM:304340
HP:0000005	Mode of inheritance	9949	AMMECR1	OMIM:300990
HP:0000005	Mode of inheritance	139212	DNAAF6	OMIM:300991
HP:0000005	Mode of inheritance	55217	TMLHE	OMIM:300872
HP:0000005	Mode of inheritance	2245	FGD1	OMIM:305400
HP:0000005	Mode of inheritance	10735	STAG2	OMIM:301043
HP:0000005	Mode of inheritance	695	BTK	OMIM:300755
HP:0000005	Mode of inheritance	695	BTK	OMIM:307200
HP:0000005	Mode of inheritance	6134	RPL10	OMIM:300998
HP:0000005	Mode of inheritance	10046	MAMLD1	OMIM:300758
HP:0000005	Mode of inheritance	5199	CFP	OMIM:312060
HP:0000005	Mode of inheritance	331	XIAP	OMIM:300635
HP:0000005	Mode of inheritance	331	XIAP	OMIM:308240
HP:0000005	Mode of inheritance	8473	OGT	OMIM:300997
HP:0000005	Mode of inheritance	1756	DMD	OMIM:310200
HP:0000005	Mode of inheritance	1756	DMD	OMIM:300376
HP:0000005	Mode of inheritance	3561	IL2RG	OMIM:312863
HP:0000005	Mode of inheritance	3561	IL2RG	OMIM:300400
HP:0000005	Mode of inheritance	50943	FOXP3	OMIM:304790
HP:0000005	Mode of inheritance	959	CD40LG	OMIM:308230
HP:0000005	Mode of inheritance	55593	OTUD5	OMIM:301056
HP:0000005	Mode of inheritance	286464	CFAP47	OMIM:301059
HP:0000005	Mode of inheritance	84100	ARL6	OMIM:268000
HP:0000005	Mode of inheritance	9227	LRAT	OMIM:268000
HP:0000005	Mode of inheritance	5949	RBP3	OMIM:268000
HP:0000005	Mode of inheritance	7401	CLRN1	OMIM:268000
HP:0000005	Mode of inheritance	5148	PDE6G	OMIM:268000
HP:0000005	Mode of inheritance	1259	CNGA1	OMIM:268000
HP:0000005	Mode of inheritance	23746	AIPL1	OMIM:268000
HP:0000005	Mode of inheritance	6094	ROM1	OMIM:268000
HP:0000005	Mode of inheritance	1406	CRX	OMIM:268000
HP:0000005	Mode of inheritance	157657	CFAP418	OMIM:268000
HP:0000005	Mode of inheritance	1193	CLIC2	OMIM:300886
HP:0000005	Mode of inheritance	6567	SLC16A2	OMIM:300523
HP:0000005	Mode of inheritance	3547	IGSF1	OMIM:300888
HP:0000005	Mode of inheritance	4068	SH2D1A	OMIM:308240
HP:0000005	Mode of inheritance	2710	GK	OMIM:307030
HP:0000005	Mode of inheritance	84679	SLC9A7	OMIM:301024
HP:0000005	Mode of inheritance	90161	HS6ST2	OMIM:301025
HP:0000005	Mode of inheritance	10916	MAGED2	OMIM:300971
HP:0000005	Mode of inheritance	1741	DLG3	OMIM:300850
HP:0000005	Mode of inheritance	4694	NDUFA1	OMIM:301020
HP:0000005	Mode of inheritance	7454	WAS	OMIM:300299
HP:0000005	Mode of inheritance	7454	WAS	OMIM:301000
HP:0000005	Mode of inheritance	7454	WAS	OMIM:313900
HP:0000005	Mode of inheritance	84061	MAGT1	OMIM:300853
HP:0000005	Mode of inheritance	84061	MAGT1	OMIM:301031
HP:0000005	Mode of inheritance	51132	RLIM	OMIM:300978
HP:0000005	Mode of inheritance	2334	AFF2	OMIM:309548
HP:0000005	Mode of inheritance	537	ATP6AP1	OMIM:300972
HP:0000005	Mode of inheritance	4128	MAOA	OMIM:300615
HP:0000005	Mode of inheritance	24140	FTSJ1	OMIM:309549
HP:0000005	Mode of inheritance	63035	BCORL1	OMIM:301029
HP:0000005	Mode of inheritance	23229	ARHGEF9	OMIM:300607
HP:0000005	Mode of inheritance	3054	HCFC1	OMIM:309541
HP:0000005	Mode of inheritance	91851	CHRDL1	OMIM:309300
HP:0000005	Mode of inheritance	116442	RAB39B	OMIM:311510
HP:0000005	Mode of inheritance	116442	RAB39B	OMIM:300271
HP:0000005	Mode of inheritance	2010	EMD	OMIM:310300
HP:0000005	Mode of inheritance	8471	IRS4	OMIM:301035
HP:0000005	Mode of inheritance	80311	KLHL15	OMIM:300982
HP:0000005	Mode of inheritance	5422	POLA1	OMIM:301030
HP:0000005	Mode of inheritance	5422	POLA1	OMIM:301220
HP:0000005	Mode of inheritance	7319	UBE2A	OMIM:300860
HP:0000005	Mode of inheritance	4478	MSN	OMIM:300988
HP:0000005	Mode of inheritance	9758	FRMPD4	OMIM:300983
HP:0000005	Mode of inheritance	79576	NKAP	OMIM:301039
HP:0000005	Mode of inheritance	389856	USP27X	OMIM:300984
HP:0000005	Mode of inheritance	412	STS	OMIM:308100
HP:0000005	Mode of inheritance	139411	PTCHD1	OMIM:300830
HP:0000005	Mode of inheritance	57187	THOC2	OMIM:300957
HP:0000005	Mode of inheritance	8270	LAGE3	OMIM:301006
HP:0000005	Mode of inheritance	6247	RS1	OMIM:312700
HP:0000005	Mode of inheritance	4534	MTM1	OMIM:310400
HP:0000005	Mode of inheritance	5456	POU3F4	OMIM:304400
HP:0000005	Mode of inheritance	286410	ATP11C	OMIM:301015
HP:0000005	Mode of inheritance	4841	NONO	OMIM:300967
HP:0000005	Mode of inheritance	114928	GPRASP2	OMIM:301018
HP:0000005	Mode of inheritance	28952	CCDC22	OMIM:300963
HP:0000005	Mode of inheritance	84295	PHF6	OMIM:301900
HP:0000005	Mode of inheritance	10084	PQBP1	OMIM:309500
HP:0000005	Mode of inheritance	6748	SSR4	OMIM:300934
HP:0000005	Mode of inheritance	4935	GPR143	OMIM:300814
HP:0000005	Mode of inheritance	11043	MID2	OMIM:300928
HP:0000005	Mode of inheritance	60506	NYX	OMIM:310500
HP:0000005	Mode of inheritance	23133	PHF8	OMIM:300263
HP:0000005	Mode of inheritance	9130	FAM50A	OMIM:300261
HP:0000005	Mode of inheritance	11141	IL1RAPL1	OMIM:300143
HP:0000005	Mode of inheritance	1968	EIF2S3	OMIM:300148
HP:0000005	Mode of inheritance	90121	TSR2	OMIM:300946
HP:0000005	Mode of inheritance	8823	FGF16	OMIM:309630
HP:0000005	Mode of inheritance	5256	PHKA2	OMIM:306000
HP:0000005	Mode of inheritance	265	AMELX	OMIM:301200
HP:0000005	Mode of inheritance	8243	SMC1A	OMIM:300590
HP:0000005	Mode of inheritance	8243	SMC1A	OMIM:301044
HP:0000005	Mode of inheritance	64840	PORCN	OMIM:305600
HP:0000005	Mode of inheritance	55906	ZC4H2	OMIM:301041
HP:0000005	Mode of inheritance	1947	EFNB1	OMIM:304110
HP:0000005	Mode of inheritance	6792	CDKL5	OMIM:300672
HP:0000005	Mode of inheritance	1730	DIAPH2	OMIM:300511
HP:0000005	Mode of inheritance	340533	NEXMIF	OMIM:300912
HP:0000005	Mode of inheritance	1183	CLCN4	OMIM:300114
HP:0000005	Mode of inheritance	212	ALAS2	OMIM:300752
HP:0000005	Mode of inheritance	1349	COX7B	OMIM:309801
HP:0000005	Mode of inheritance	1349	COX7B	OMIM:300887
HP:0000005	Mode of inheritance	3052	HCCS	OMIM:309801
HP:0000005	Mode of inheritance	54539	NDUFB11	OMIM:309801
HP:0000005	Mode of inheritance	54539	NDUFB11	OMIM:300952
HP:0000005	Mode of inheritance	3028	HSD17B10	OMIM:300438
HP:0000005	Mode of inheritance	7737	RNF113A	OMIM:300953
HP:0000005	Mode of inheritance	92002	CCNQ	OMIM:300707
HP:0000005	Mode of inheritance	8573	CASK	OMIM:300908
HP:0000005	Mode of inheritance	8573	CASK	OMIM:300749
HP:0000005	Mode of inheritance	2539	G6PD	OMIM:300908
HP:0000005	Mode of inheritance	5165	PDK3	OMIM:300905
HP:0000005	Mode of inheritance	546	ATRX	OMIM:301040
HP:0000005	Mode of inheritance	51284	TLR7	OMIM:301080
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:300244
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:300049
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:304120
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:309350
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:311300
HP:0000005	Mode of inheritance	55869	HDAC8	OMIM:300882
HP:0000005	Mode of inheritance	54880	BCOR	OMIM:300166
HP:0000005	Mode of inheritance	8239	USP9X	OMIM:300968
HP:0000005	Mode of inheritance	5160	PDHA1	OMIM:312170
HP:0000005	Mode of inheritance	2273	FHL1	OMIM:300717
HP:0000005	Mode of inheritance	2273	FHL1	OMIM:300695
HP:0000005	Mode of inheritance	1896	EDA	OMIM:313500
HP:0000005	Mode of inheritance	8481	OFD1	OMIM:311200
HP:0000005	Mode of inheritance	1654	DDX3X	OMIM:300958
HP:0000005	Mode of inheritance	23096	IQSEC2	OMIM:309530
HP:0000005	Mode of inheritance	1287	COL4A5	OMIM:301050
HP:0000005	Mode of inheritance	9338	TCEAL1	OMIM:301094
HP:0000005	Mode of inheritance	139285	AMER1	OMIM:300373
HP:0000005	Mode of inheritance	9968	MED12	OMIM:301068
HP:0000005	Mode of inheritance	5251	PHEX	OMIM:307800
HP:0000005	Mode of inheritance	6853	SYN1	OMIM:300491
HP:0000005	Mode of inheritance	4810	NHS	OMIM:302350
HP:0000005	Mode of inheritance	11152	WDR45	OMIM:300894
HP:0000005	Mode of inheritance	7355	SLC35A2	OMIM:300896
HP:0000005	Mode of inheritance	3920	LAMP2	OMIM:300257
HP:0000005	Mode of inheritance	29978	UBQLN2	OMIM:300857
HP:0000005	Mode of inheritance	8260	NAA10	OMIM:300855
HP:0000005	Mode of inheritance	50814	NSDHL	OMIM:308050
HP:0000005	Mode of inheritance	2664	GDI1	OMIM:300849
HP:0000005	Mode of inheritance	10682	EBP	OMIM:302960
HP:0000005	Mode of inheritance	2182	ACSL4	OMIM:300387
HP:0000005	Mode of inheritance	10943	MSL3	OMIM:301032
HP:0000005	Mode of inheritance	23676	SMPX	OMIM:300066
HP:0000005	Mode of inheritance	10013	HDAC6	OMIM:300863
HP:0000005	Mode of inheritance	7403	KDM6A	OMIM:300867
HP:0000005	Mode of inheritance	3188	HNRNPH2	OMIM:300986
HP:0000005	Mode of inheritance	83550	GPR101	OMIM:300942
HP:0000005	Mode of inheritance	4204	MECP2	OMIM:312750
HP:0000005	Mode of inheritance	8517	IKBKG	OMIM:308300
HP:0000005	Mode of inheritance	2157	F8	OMIM:301071
HP:0000005	Mode of inheritance	240	ALOX5	OMIM:600807
HP:0000005	Mode of inheritance	7941	PLA2G7	OMIM:600807
HP:0000005	Mode of inheritance	6356	CCL11	OMIM:600807
HP:0000005	Mode of inheritance	7124	TNF	OMIM:600807
HP:0000005	Mode of inheritance	3176	HNMT	OMIM:600807
HP:0000005	Mode of inheritance	4589	MUC7	OMIM:600807
HP:0000005	Mode of inheritance	117156	SCGB3A2	OMIM:600807
HP:0000005	Mode of inheritance	3135	HLA-G	OMIM:600807
HP:0000005	Mode of inheritance	3596	IL13	OMIM:600807
HP:0000005	Mode of inheritance	6331	SCN5A	OMIM:272120
HP:0000005	Mode of inheritance	672	BRCA1	OMIM:604370
HP:0000005	Mode of inheritance	114798	SLITRK1	OMIM:613229
HP:0000005	Mode of inheritance	2147	F2	OMIM:601367
HP:0000005	Mode of inheritance	4846	NOS3	OMIM:601367
HP:0000005	Mode of inheritance	4846	NOS3	OMIM:145500
HP:0000005	Mode of inheritance	5583	PRKCH	OMIM:601367
HP:0000005	Mode of inheritance	2153	F5	OMIM:601367
HP:0000005	Mode of inheritance	241	ALOX5AP	OMIM:601367
HP:0000005	Mode of inheritance	57502	NLGN4X	OMIM:300495
HP:0000005	Mode of inheritance	3107	HLA-C	OMIM:177900
HP:0000005	Mode of inheritance	5078	PAX4	OMIM:612227
HP:0000005	Mode of inheritance	3117	HLA-DQA1	OMIM:212750
HP:0000005	Mode of inheritance	3119	HLA-DQB1	OMIM:212750
HP:0000005	Mode of inheritance	3119	HLA-DQB1	OMIM:126200
HP:0000005	Mode of inheritance	2487	FRZB	OMIM:165720
HP:0000005	Mode of inheritance	3106	HLA-B	OMIM:106300
HP:0000005	Mode of inheritance	6638	SNRPN	OMIM:209850
HP:0000005	Mode of inheritance	64127	NOD2	OMIM:266600
HP:0000005	Mode of inheritance	64127	NOD2	OMIM:617321
HP:0000005	Mode of inheritance	3569	IL6	OMIM:266600
HP:0000005	Mode of inheritance	1280	COL2A1	OMIM:150600
HP:0000005	Mode of inheritance	50833	TAS2R16	OMIM:103780
HP:0000005	Mode of inheritance	125	ADH1B	OMIM:103780
HP:0000005	Mode of inheritance	126	ADH1C	OMIM:103780
HP:0000005	Mode of inheritance	2555	GABRA2	OMIM:103780
HP:0000005	Mode of inheritance	5133	PDCD1	OMIM:126200
HP:0000005	Mode of inheritance	3123	HLA-DRB1	OMIM:126200
HP:0000005	Mode of inheritance	1889	ECE1	OMIM:145500
HP:0000005	Mode of inheritance	1577	CYP3A5	OMIM:145500
HP:0000005	Mode of inheritance	2784	GNB3	OMIM:145500
HP:0000005	Mode of inheritance	8490	RGS5	OMIM:145500
HP:0000005	Mode of inheritance	5740	PTGIS	OMIM:145500
HP:0000005	Mode of inheritance	118	ADD1	OMIM:145500
HP:0000005	Mode of inheritance	481	ATP1B1	OMIM:145500
HP:0000005	Mode of inheritance	185	AGTR1	OMIM:145500
HP:0000005	Mode of inheritance	183	AGT	OMIM:145500
HP:0000005	Mode of inheritance	4512	MT-CO1	OMIM:540000
HP:0000005	Mode of inheritance	4513	MT-CO2	OMIM:540000
HP:0000005	Mode of inheritance	4511	MT-TC	OMIM:540000
HP:0000005	Mode of inheritance	4574	MT-TS1	OMIM:540000
HP:0000005	Mode of inheritance	4574	MT-TS1	OMIM:220110
HP:0000005	Mode of inheritance	4574	MT-TS1	OMIM:580000
HP:0000005	Mode of inheritance	4575	MT-TS2	OMIM:540000
HP:0000005	Mode of inheritance	4558	MT-TF	OMIM:540000
HP:0000005	Mode of inheritance	4558	MT-TF	OMIM:545000
HP:0000005	Mode of inheritance	4567	MT-TL1	OMIM:540000
HP:0000005	Mode of inheritance	4567	MT-TL1	OMIM:545000
HP:0000005	Mode of inheritance	4566	MT-TK	OMIM:540000
HP:0000005	Mode of inheritance	4566	MT-TK	OMIM:545000
HP:0000005	Mode of inheritance	4572	MT-TQ	OMIM:540000
HP:0000005	Mode of inheritance	4577	MT-TV	OMIM:540000
HP:0000005	Mode of inheritance	4578	MT-TW	OMIM:540000
HP:0000005	Mode of inheritance	4570	MT-TN	OMIM:220110
HP:0000005	Mode of inheritance	6834	SURF1	OMIM:220110
HP:0000005	Mode of inheritance	4724	NDUFS4	OMIM:252010
HP:0000005	Mode of inheritance	4576	MT-TT	OMIM:551000
HP:0000005	Mode of inheritance	55687	TRMU	OMIM:580000
HP:0000005	Mode of inheritance	112812	FDX2	OMIM:251900
HP:0000005	Mode of inheritance	4571	MT-TP	OMIM:545000
HP:0000005	Mode of inheritance	4565	MT-TI	OMIM:545000
HP:0000005	Mode of inheritance	617	BCS1L	OMIM:124000
HP:0000005	Mode of inheritance	11281	POU6F2	OMIM:601583
HP:0000005	Mode of inheritance	6714	SRC	OMIM:114500
HP:0000005	Mode of inheritance	10395	DLC1	OMIM:114500
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:114500
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:259500
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:176807
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:114480
HP:0000005	Mode of inheritance	8313	AXIN2	OMIM:114500
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:114500
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:167000
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:613659
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:602501
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:182000
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:114480
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:211980
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:155500
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:114550
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:613089
HP:0000005	Mode of inheritance	2033	EP300	OMIM:114500
HP:0000005	Mode of inheritance	5782	PTPN12	OMIM:114500
HP:0000005	Mode of inheritance	5320	PLA2G2A	OMIM:114500
HP:0000005	Mode of inheritance	6790	AURKA	OMIM:114500
HP:0000005	Mode of inheritance	27030	MLH3	OMIM:114500
HP:0000005	Mode of inheritance	27030	MLH3	OMIM:608089
HP:0000005	Mode of inheritance	25788	RAD54B	OMIM:114500
HP:0000005	Mode of inheritance	595	CCND1	OMIM:114500
HP:0000005	Mode of inheritance	595	CCND1	OMIM:254500
HP:0000005	Mode of inheritance	699	BUB1	OMIM:114500
HP:0000005	Mode of inheritance	701	BUB1B	OMIM:114500
HP:0000005	Mode of inheritance	2261	FGFR3	OMIM:114500
HP:0000005	Mode of inheritance	2261	FGFR3	OMIM:603956
HP:0000005	Mode of inheritance	2261	FGFR3	OMIM:273300
HP:0000005	Mode of inheritance	2261	FGFR3	OMIM:109800
HP:0000005	Mode of inheritance	7097	TLR2	OMIM:114500
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:114500
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:137550
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:614470
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:188470
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:249400
HP:0000005	Mode of inheritance	324	APC	OMIM:114500
HP:0000005	Mode of inheritance	324	APC	OMIM:613659
HP:0000005	Mode of inheritance	324	APC	OMIM:114550
HP:0000005	Mode of inheritance	4163	MCC	OMIM:114500
HP:0000005	Mode of inheritance	207	AKT1	OMIM:114500
HP:0000005	Mode of inheritance	207	AKT1	OMIM:167000
HP:0000005	Mode of inheritance	207	AKT1	OMIM:176920
HP:0000005	Mode of inheritance	207	AKT1	OMIM:114480
HP:0000005	Mode of inheritance	5157	PDGFRL	OMIM:114500
HP:0000005	Mode of inheritance	5157	PDGFRL	OMIM:114550
HP:0000005	Mode of inheritance	5795	PTPRJ	OMIM:114500
HP:0000005	Mode of inheritance	673	BRAF	OMIM:114500
HP:0000005	Mode of inheritance	673	BRAF	OMIM:211980
HP:0000005	Mode of inheritance	26511	CHIC2	OMIM:601626
HP:0000005	Mode of inheritance	3717	JAK2	OMIM:601626
HP:0000005	Mode of inheritance	3717	JAK2	OMIM:254450
HP:0000005	Mode of inheritance	3717	JAK2	OMIM:263300
HP:0000005	Mode of inheritance	3717	JAK2	OMIM:614521
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:601626
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:613659
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:108010
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:614470
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:260350
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:114480
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:211980
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:600268
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:109800
HP:0000005	Mode of inheritance	2120	ETV6	OMIM:601626
HP:0000005	Mode of inheritance	1050	CEBPA	OMIM:601626
HP:0000005	Mode of inheritance	2624	GATA2	OMIM:601626
HP:0000005	Mode of inheritance	2624	GATA2	OMIM:614286
HP:0000005	Mode of inheritance	861	RUNX1	OMIM:601626
HP:0000005	Mode of inheritance	1788	DNMT3A	OMIM:601626
HP:0000005	Mode of inheritance	6455	SH3GL1	OMIM:601626
HP:0000005	Mode of inheritance	4869	NPM1	OMIM:601626
HP:0000005	Mode of inheritance	8028	MLLT10	OMIM:601626
HP:0000005	Mode of inheritance	3815	KIT	OMIM:601626
HP:0000005	Mode of inheritance	3815	KIT	OMIM:273300
HP:0000005	Mode of inheritance	8301	PICALM	OMIM:601626
HP:0000005	Mode of inheritance	4026	LPP	OMIM:601626
HP:0000005	Mode of inheritance	1385	CREB1	OMIM:612160
HP:0000005	Mode of inheritance	6208	RPS14	OMIM:153550
HP:0000005	Mode of inheritance	4609	MYC	OMIM:113970
HP:0000005	Mode of inheritance	115908	CTHRC1	OMIM:614266
HP:0000005	Mode of inheritance	4481	MSR1	OMIM:614266
HP:0000005	Mode of inheritance	51008	ASCC1	OMIM:614266
HP:0000005	Mode of inheritance	10019	SH2B3	OMIM:254450
HP:0000005	Mode of inheritance	811	CALR	OMIM:254450
HP:0000005	Mode of inheritance	4352	MPL	OMIM:254450
HP:0000005	Mode of inheritance	4352	MPL	OMIM:601977
HP:0000005	Mode of inheritance	51604	PIGT	OMIM:615399
HP:0000005	Mode of inheritance	999	CDH1	OMIM:167000
HP:0000005	Mode of inheritance	999	CDH1	OMIM:608089
HP:0000005	Mode of inheritance	999	CDH1	OMIM:176807
HP:0000005	Mode of inheritance	999	CDH1	OMIM:114480
HP:0000005	Mode of inheritance	5071	PRKN	OMIM:167000
HP:0000005	Mode of inheritance	5071	PRKN	OMIM:211980
HP:0000005	Mode of inheritance	4978	OPCML	OMIM:167000
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:167000
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:613659
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:137800
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:211980
HP:0000005	Mode of inheritance	2778	GNAS	OMIM:219080
HP:0000005	Mode of inheritance	79798	ARMC5	OMIM:615954
HP:0000005	Mode of inheritance	3553	IL1B	OMIM:613659
HP:0000005	Mode of inheritance	4595	MUTYH	OMIM:613659
HP:0000005	Mode of inheritance	3557	IL1RN	OMIM:613659
HP:0000005	Mode of inheritance	843	CASP10	OMIM:613659
HP:0000005	Mode of inheritance	3659	IRF1	OMIM:613659
HP:0000005	Mode of inheritance	3659	IRF1	OMIM:211980
HP:0000005	Mode of inheritance	1316	KLF6	OMIM:613659
HP:0000005	Mode of inheritance	1316	KLF6	OMIM:176807
HP:0000005	Mode of inheritance	2263	FGFR2	OMIM:613659
HP:0000005	Mode of inheritance	5156	PDGFRA	OMIM:607685
HP:0000005	Mode of inheritance	5925	RB1	OMIM:180200
HP:0000005	Mode of inheritance	5925	RB1	OMIM:259500
HP:0000005	Mode of inheritance	5925	RB1	OMIM:109800
HP:0000005	Mode of inheritance	9049	AIP	OMIM:102200
HP:0000005	Mode of inheritance	5324	PLAG1	OMIM:181030
HP:0000005	Mode of inheritance	3265	HRAS	OMIM:137550
HP:0000005	Mode of inheritance	3265	HRAS	OMIM:188470
HP:0000005	Mode of inheritance	3265	HRAS	OMIM:109800
HP:0000005	Mode of inheritance	11178	LZTS1	OMIM:133239
HP:0000005	Mode of inheritance	51741	WWOX	OMIM:133239
HP:0000005	Mode of inheritance	6049	RNF6	OMIM:133239
HP:0000005	Mode of inheritance	7048	TGFBR2	OMIM:133239
HP:0000005	Mode of inheritance	91754	NEK9	OMIM:617025
HP:0000005	Mode of inheritance	4926	NUMA1	OMIM:612376
HP:0000005	Mode of inheritance	5914	RARA	OMIM:612376
HP:0000005	Mode of inheritance	2130	EWSR1	OMIM:612219
HP:0000005	Mode of inheritance	4437	MSH3	OMIM:608089
HP:0000005	Mode of inheritance	6794	STK11	OMIM:273300
HP:0000005	Mode of inheritance	6794	STK11	OMIM:260350
HP:0000005	Mode of inheritance	8915	BCL10	OMIM:273300
HP:0000005	Mode of inheritance	8915	BCL10	OMIM:156240
HP:0000005	Mode of inheritance	7490	WT1	OMIM:156240
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194080
HP:0000005	Mode of inheritance	7490	WT1	OMIM:136680
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194072
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194070
HP:0000005	Mode of inheritance	9759	HDAC4	OMIM:600430
HP:0000005	Mode of inheritance	7030	TFE3	OMIM:300854
HP:0000005	Mode of inheritance	463	ZFHX3	OMIM:176807
HP:0000005	Mode of inheritance	367	AR	OMIM:176807
HP:0000005	Mode of inheritance	4601	MXI1	OMIM:176807
HP:0000005	Mode of inheritance	8379	MAD1L1	OMIM:176807
HP:0000005	Mode of inheritance	4089	SMAD4	OMIM:260350
HP:0000005	Mode of inheritance	23451	SF3B1	OMIM:614286
HP:0000005	Mode of inheritance	54790	TET2	OMIM:614286
HP:0000005	Mode of inheritance	171023	ASXL1	OMIM:614286
HP:0000005	Mode of inheritance	3417	IDH1	OMIM:137800
HP:0000005	Mode of inheritance	6757	SSX2	OMIM:300813
HP:0000005	Mode of inheritance	57522	SRGAP1	OMIM:188470
HP:0000005	Mode of inheritance	9562	MINPP1	OMIM:188470
HP:0000005	Mode of inheritance	83990	BRIP1	OMIM:114480
HP:0000005	Mode of inheritance	5002	SLC22A18	OMIM:114480
HP:0000005	Mode of inheritance	5002	SLC22A18	OMIM:211980
HP:0000005	Mode of inheritance	4835	NQO2	OMIM:114480
HP:0000005	Mode of inheritance	5245	PHB1	OMIM:114480
HP:0000005	Mode of inheritance	3161	HMMR	OMIM:114480
HP:0000005	Mode of inheritance	580	BARD1	OMIM:114480
HP:0000005	Mode of inheritance	472	ATM	OMIM:114480
HP:0000005	Mode of inheritance	8493	PPM1D	OMIM:114480
HP:0000005	Mode of inheritance	79728	PALB2	OMIM:114480
HP:0000005	Mode of inheritance	7517	XRCC3	OMIM:114480
HP:0000005	Mode of inheritance	9821	RB1CC1	OMIM:114480
HP:0000005	Mode of inheritance	2099	ESR1	OMIM:114480
HP:0000005	Mode of inheritance	841	CASP8	OMIM:114480
HP:0000005	Mode of inheritance	841	CASP8	OMIM:211980
HP:0000005	Mode of inheritance	841	CASP8	OMIM:114550
HP:0000005	Mode of inheritance	8438	RAD54L	OMIM:114480
HP:0000005	Mode of inheritance	2131	EXT1	OMIM:215300
HP:0000005	Mode of inheritance	2074	ERCC6	OMIM:211980
HP:0000005	Mode of inheritance	1956	EGFR	OMIM:211980
HP:0000005	Mode of inheritance	1548	CYP2A6	OMIM:211980
HP:0000005	Mode of inheritance	356	FASLG	OMIM:211980
HP:0000005	Mode of inheritance	5519	PPP2R1B	OMIM:211980
HP:0000005	Mode of inheritance	1326	MAP3K8	OMIM:211980
HP:0000005	Mode of inheritance	4763	NF1	OMIM:607785
HP:0000005	Mode of inheritance	23092	ARHGAP26	OMIM:607785
HP:0000005	Mode of inheritance	867	CBL	OMIM:607785
HP:0000005	Mode of inheritance	5781	PTPN11	OMIM:607785
HP:0000005	Mode of inheritance	25	ABL1	OMIM:608232
HP:0000005	Mode of inheritance	7248	TSC1	OMIM:606690
HP:0000005	Mode of inheritance	7248	TSC1	OMIM:607341
HP:0000005	Mode of inheritance	7249	TSC2	OMIM:606690
HP:0000005	Mode of inheritance	7249	TSC2	OMIM:607341
HP:0000005	Mode of inheritance	2475	MTOR	OMIM:607341
HP:0000005	Mode of inheritance	5081	PAX7	OMIM:268220
HP:0000005	Mode of inheritance	2308	FOXO1	OMIM:268220
HP:0000005	Mode of inheritance	5077	PAX3	OMIM:268220
HP:0000005	Mode of inheritance	29071	C1GALT1C1	OMIM:300622
HP:0000005	Mode of inheritance	8312	AXIN1	OMIM:114550
HP:0000005	Mode of inheritance	3482	IGF2R	OMIM:114550
HP:0000005	Mode of inheritance	4615	MYD88	OMIM:153600
HP:0000005	Mode of inheritance	5277	PIGA	OMIM:300818
HP:0000005	Mode of inheritance	8148	TAF15	OMIM:612237
HP:0000005	Mode of inheritance	8013	NR4A3	OMIM:612237
HP:0000005	Mode of inheritance	79058	ASPSCR1	OMIM:606243
HP:0000005	Mode of inheritance	5080	PAX6	OMIM:194072
HP:0000005	Mode of inheritance	3981	LIG4	OMIM:254500
HP:0000005	Mode of inheritance	79577	CDC73	OMIM:608266
HP:0000005	Mode of inheritance	2719	GPC3	OMIM:194070
HP:0000005	Mode of inheritance	2239	GPC4	OMIM:194070
HP:0000005	Mode of inheritance	3481	IGF2	OMIM:194070
HP:0000005	Mode of inheritance	283120	H19	OMIM:194070
HP:0000005	Mode of inheritance	2771	GNAI2	OMIM:192605
HP:0000005	Mode of inheritance	23405	DICER1	OMIM:618272
HP:0000005	Mode of inheritance	6608	SMO	OMIM:601707
HP:0000005	Mode of inheritance	3572	IL6ST	OMIM:619750
HP:0000005	Mode of inheritance	100	ADA	OMIM:102700
HP:0000005	Mode of inheritance	387	RHOA	OMIM:618727
HP:0000005	Mode of inheritance	7317	UBA1	OMIM:301054
HP:0000005	Mode of inheritance	57055	DAZ2	OMIM:415000
HP:0000005	Mode of inheritance	5940	RBMY1A1	OMIM:415000
HP:0000005	Mode of inheritance	9082	XKRY	OMIM:415000
HP:0000005	Mode of inheritance	57054	DAZ3	OMIM:415000
HP:0000005	Mode of inheritance	1617	DAZ1	OMIM:415000
HP:0000005	Mode of inheritance	8284	KDM5D	OMIM:415000
HP:0000005	Mode of inheritance	442862	PRY2	OMIM:415000
HP:0000005	Mode of inheritance	9081	PRY	OMIM:415000
HP:0000005	Mode of inheritance	140032	RPS4Y2	OMIM:415000
HP:0000005	Mode of inheritance	9426	CDY2A	OMIM:415000
HP:0000005	Mode of inheritance	9083	BPY2	OMIM:415000
HP:0000005	Mode of inheritance	86614	HSFY1	OMIM:415000
HP:0000005	Mode of inheritance	9084	VCY	OMIM:415000
HP:0000005	Mode of inheritance	8287	USP9Y	OMIM:415000
HP:0000005	Mode of inheritance	9085	CDY1	OMIM:415000
HP:0000005	Mode of inheritance	8653	DDX3Y	OMIM:415000
HP:0000005	Mode of inheritance	6736	SRY	OMIM:400044
HP:0000005	Mode of inheritance	90665	TBL1Y	OMIM:400047
HP:0000005	Mode of inheritance	284058	KANSL1	OMIM:610443
HP:0000005	Mode of inheritance	344018	FIGLA	OMIM:612310
HP:0000005	Mode of inheritance	3973	LHCGR	OMIM:176410
HP:0000005	Mode of inheritance	2516	NR5A1	OMIM:612964
HP:0000005	Mode of inheritance	2516	NR5A1	OMIM:612965
HP:0000005	Mode of inheritance	4287	ATXN3	OMIM:109150
HP:0000005	Mode of inheritance	1822	ATN1	OMIM:125370
HP:0000005	Mode of inheritance	6683	SPAST	OMIM:182601
HP:0000005	Mode of inheritance	6310	ATXN1	OMIM:164400
HP:0000005	Mode of inheritance	6314	ATXN7	OMIM:164500
HP:0000005	Mode of inheritance	2776	GNAQ	OMIM:185300
HP:0000005	Mode of inheritance	26277	TINF2	OMIM:268130
HP:0000005	Mode of inheritance	2290	FOXG1	OMIM:613454
HP:0000005	Mode of inheritance	4774	NFIA	OMIM:613735
HP:0000005	Mode of inheritance	85358	SHANK3	OMIM:606232
HP:0000005	Mode of inheritance	27235	COQ2	OMIM:146500
HP:0000005	Mode of inheritance	23384	SPECC1L	OMIM:600251
HP:0000005	Mode of inheritance	3653	IPW	OMIM:176270
HP:0000005	Mode of inheritance	54551	MAGEL2	OMIM:176270
HP:0000005	Mode of inheritance	791114	PWRN1	OMIM:176270
HP:0000005	Mode of inheritance	100033413	SNORD116-1	OMIM:176270
HP:0000005	Mode of inheritance	8924	HERC2	OMIM:176270
HP:0000005	Mode of inheritance	145624	PWAR1	OMIM:176270
HP:0000005	Mode of inheritance	23742	NPAP1	OMIM:176270
HP:0000005	Mode of inheritance	338433	SNORD115-1	OMIM:176270
HP:0000005	Mode of inheritance	149775	GNAS-AS1	OMIM:603233
HP:0000005	Mode of inheritance	8675	STX16	OMIM:603233
HP:0000005	Mode of inheritance	2623	GATA1	OMIM:190685
HP:0000005	Mode of inheritance	5048	PAFAH1B1	OMIM:607432
HP:0000005	Mode of inheritance	6197	RPS6KA3	OMIM:303600
HP:0000005	Mode of inheritance	51816	ADA2	OMIM:182410
HP:0000005	Mode of inheritance	4784	NFIX	OMIM:602535
HP:0000005	Mode of inheritance	2317	FLNB	OMIM:108720
HP:0000005	Mode of inheritance	39	ACAT2	OMIM:614055
HP:0000005	Mode of inheritance	7253	TSHR	OMIM:609152
HP:0000005	Mode of inheritance	79813	EHMT1	OMIM:610253
HP:0000005	Mode of inheritance	55636	CHD7	OMIM:214800
HP:0000005	Mode of inheritance	25942	SIN3A	OMIM:613406
HP:0000005	Mode of inheritance	10382	TUBB4A	OMIM:612438
HP:0000005	Mode of inheritance	53834	FGFRL1	OMIM:194190
HP:0000005	Mode of inheritance	1487	CTBP1	OMIM:194190
HP:0000005	Mode of inheritance	3954	LETM1	OMIM:194190
HP:0000005	Mode of inheritance	7468	NSD2	OMIM:194190
HP:0000005	Mode of inheritance	10815	CPLX1	OMIM:194190
HP:0000005	Mode of inheritance	9791	PTDSS1	OMIM:151050
HP:0000005	Mode of inheritance	1816	DRD5	OMIM:606798
HP:0000005	Mode of inheritance	4137	MAPT	OMIM:172700
HP:0000005	Mode of inheritance	4137	MAPT	OMIM:168600
HP:0000005	Mode of inheritance	5663	PSEN1	OMIM:172700
HP:0000005	Mode of inheritance	1387	CREBBP	OMIM:180849
HP:0000005	Mode of inheritance	50937	CDON	OMIM:614226
HP:0000005	Mode of inheritance	7337	UBE3A	OMIM:105830
HP:0000005	Mode of inheritance	26137	ZBTB20	OMIM:259050
HP:0000005	Mode of inheritance	5832	ALDH18A1	OMIM:219150
HP:0000005	Mode of inheritance	7341	SUMO1	OMIM:613705
HP:0000005	Mode of inheritance	6497	SKI	OMIM:182212
HP:0000005	Mode of inheritance	5604	MAP2K1	OMIM:155950
HP:0000005	Mode of inheritance	10743	RAI1	OMIM:182290
HP:0000005	Mode of inheritance	25836	NIPBL	OMIM:122470
HP:0000005	Mode of inheritance	4968	OGG1	OMIM:144700
HP:0000005	Mode of inheritance	11236	RNF139	OMIM:144700
HP:0000005	Mode of inheritance	55193	PBRM1	OMIM:144700
HP:0000005	Mode of inheritance	6927	HNF1A	OMIM:144700
HP:0000005	Mode of inheritance	6928	HNF1B	OMIM:144700
HP:0000005	Mode of inheritance	7428	VHL	OMIM:144700
HP:0000005	Mode of inheritance	257	ALX3	OMIM:136760
HP:0000005	Mode of inheritance	6391	SDHC	OMIM:606764
HP:0000005	Mode of inheritance	84823	LMNB2	OMIM:608709
HP:0000005	Mode of inheritance	4208	MEF2C	OMIM:613443
HP:0000005	Mode of inheritance	2747	GLUD2	OMIM:168600
HP:0000005	Mode of inheritance	2629	GBA1	OMIM:168600
HP:0000005	Mode of inheritance	4929	NR4A2	OMIM:168600
HP:0000005	Mode of inheritance	6908	TBP	OMIM:168600
HP:0000005	Mode of inheritance	9627	SNCAIP	OMIM:168600
HP:0000005	Mode of inheritance	6311	ATXN2	OMIM:168600
HP:0000005	Mode of inheritance	6315	ATXN8OS	OMIM:168600
HP:0000005	Mode of inheritance	26121	PRPF31	OMIM:600138
HP:0000005	Mode of inheritance	57468	SLC12A5	OMIM:616685
HP:0000005	Mode of inheritance	2138	EYA1	OMIM:113650
HP:0000005	Mode of inheritance	2138	EYA1	OMIM:602588
HP:0000005	Mode of inheritance	6495	SIX1	OMIM:113650
HP:0000005	Mode of inheritance	6390	SDHB	OMIM:115310
HP:0000005	Mode of inheritance	128674	PROKR2	OMIM:244200
HP:0000005	Mode of inheritance	25913	POT1	OMIM:616568
HP:0000005	Mode of inheritance	25913	POT1	OMIM:615848
HP:0000005	Mode of inheritance	51621	KLF13	OMIM:612001
HP:0000005	Mode of inheritance	1139	CHRNA7	OMIM:612001
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:606071
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:600175
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:181405
HP:0000005	Mode of inheritance	9698	PUM1	OMIM:617931
HP:0000005	Mode of inheritance	2260	FGFR1	OMIM:147950
HP:0000005	Mode of inheritance	6513	SLC2A1	OMIM:612126
HP:0000005	Mode of inheritance	6513	SLC2A1	OMIM:614847
HP:0000005	Mode of inheritance	785	CACNB4	OMIM:613855
HP:0000005	Mode of inheritance	203547	VMA21	OMIM:310440
HP:0000005	Mode of inheritance	2566	GABRG2	OMIM:607681
HP:0000005	Mode of inheritance	773	CACNA1A	OMIM:108500
HP:0000005	Mode of inheritance	478	ATP1A3	OMIM:128235
HP:0000005	Mode of inheritance	60675	PROK2	OMIM:610628
HP:0000005	Mode of inheritance	1743	DLST	OMIM:618475
HP:0000005	Mode of inheritance	25814	ATXN10	OMIM:603516
HP:0000005	Mode of inheritance	6096	RORB	OMIM:618357
HP:0000005	Mode of inheritance	2050	EPHB4	OMIM:618196
HP:0000005	Mode of inheritance	4771	NF2	OMIM:162091
HP:0000005	Mode of inheritance	4771	NF2	OMIM:607174
HP:0000005	Mode of inheritance	6598	SMARCB1	OMIM:162091
HP:0000005	Mode of inheritance	201163	FLCN	OMIM:173600
HP:0000005	Mode of inheritance	55765	INAVA	OMIM:618077
HP:0000005	Mode of inheritance	64072	CDH23	OMIM:617540
HP:0000005	Mode of inheritance	23095	KIF1B	OMIM:256700
HP:0000005	Mode of inheritance	1135	CHRNA2	OMIM:610353
HP:0000005	Mode of inheritance	26011	TENM4	OMIM:616736
HP:0000005	Mode of inheritance	90678	LRSAM1	OMIM:614436
HP:0000005	Mode of inheritance	55997	CFC1	OMIM:605376
HP:0000005	Mode of inheritance	78987	CRELD1	OMIM:606217
HP:0000005	Mode of inheritance	7480	WNT10B	OMIM:225300
HP:0000005	Mode of inheritance	889	KRIT1	OMIM:116860
HP:0000005	Mode of inheritance	1137	CHRNA4	OMIM:600513
HP:0000005	Mode of inheritance	348980	HCN1	OMIM:618482
HP:0000005	Mode of inheritance	1493	CTLA4	OMIM:616100
HP:0000005	Mode of inheritance	4901	NRL	OMIM:613750
HP:0000005	Mode of inheritance	2562	GABRB3	OMIM:612269
HP:0000005	Mode of inheritance	5582	PRKCG	OMIM:605361
HP:0000005	Mode of inheritance	25778	DSTYK	OMIM:610805
HP:0000005	Mode of inheritance	1181	CLCN2	OMIM:605635
HP:0000005	Mode of inheritance	6469	SHH	OMIM:142945
HP:0000005	Mode of inheritance	6469	SHH	OMIM:611638
HP:0000005	Mode of inheritance	1641	DCX	OMIM:300067
HP:0000005	Mode of inheritance	57165	GJC2	OMIM:613480
HP:0000005	Mode of inheritance	9757	KMT2B	OMIM:617284
HP:0000005	Mode of inheritance	659	BMPR2	OMIM:178600
HP:0000005	Mode of inheritance	51428	DDX41	OMIM:616871
HP:0000005	Mode of inheritance	2705	GJB1	OMIM:302800
HP:0000005	Mode of inheritance	2332	FMR1	OMIM:300624
HP:0000005	Mode of inheritance	7098	TLR3	OMIM:613002
HP:0000005	Mode of inheritance	10320	IKZF1	OMIM:616873
HP:0000005	Mode of inheritance	148022	TICAM1	OMIM:614850
HP:0000005	Mode of inheritance	90268	OTULIN	OMIM:619986
HP:0000005	Mode of inheritance	7345	UCHL1	OMIM:613643
HP:0000005	Mode of inheritance	112476	PRRT2	OMIM:605751
HP:0000005	Mode of inheritance	112476	PRRT2	OMIM:128200
HP:0000005	Mode of inheritance	4233	MET	OMIM:605074
HP:0000005	Mode of inheritance	5546	PRCC	OMIM:605074
HP:0000005	Mode of inheritance	477	ATP1A2	OMIM:602481
HP:0000005	Mode of inheritance	10594	PRPF8	OMIM:600059
HP:0000005	Mode of inheritance	7273	TTN	OMIM:600334
HP:0000005	Mode of inheritance	5311	PKD2	OMIM:613095
HP:0000005	Mode of inheritance	7450	VWF	OMIM:193400
HP:0000005	Mode of inheritance	23432	GPR161	OMIM:155255
HP:0000005	Mode of inheritance	51684	SUFU	OMIM:155255
HP:0000005	Mode of inheritance	51684	SUFU	OMIM:607174
HP:0000005	Mode of inheritance	8518	ELP1	OMIM:155255
HP:0000005	Mode of inheritance	8643	PTCH2	OMIM:155255
HP:0000005	Mode of inheritance	675	BRCA2	OMIM:155255
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:155255
HP:0000005	Mode of inheritance	2903	GRIN2A	OMIM:245570
HP:0000005	Mode of inheritance	63982	ANO3	OMIM:615034
HP:0000005	Mode of inheritance	6329	SCN4A	OMIM:170400
HP:0000005	Mode of inheritance	779	CACNA1S	OMIM:170400
HP:0000005	Mode of inheritance	5076	PAX2	OMIM:616002
HP:0000005	Mode of inheritance	8216	LZTR1	OMIM:615670
HP:0000005	Mode of inheritance	7015	TERT	OMIM:614742
HP:0000005	Mode of inheritance	79853	TM4SF20	OMIM:615432
HP:0000005	Mode of inheritance	9927	MFN2	OMIM:609260
HP:0000005	Mode of inheritance	84196	USP48	OMIM:620227
HP:0000005	Mode of inheritance	7012	TERC	OMIM:614743
HP:0000005	Mode of inheritance	1282	COL4A1	OMIM:175780
HP:0000005	Mode of inheritance	5888	RAD51	OMIM:614508
HP:0000005	Mode of inheritance	2065	ERBB3	OMIM:133180
HP:0000005	Mode of inheritance	4976	OPA1	OMIM:165500
HP:0000005	Mode of inheritance	5727	PTCH1	OMIM:610828
HP:0000005	Mode of inheritance	2736	GLI2	OMIM:610829
HP:0000005	Mode of inheritance	2736	GLI2	OMIM:615849
HP:0000005	Mode of inheritance	8204	NRIP1	OMIM:618270
HP:0000005	Mode of inheritance	81	ACTN4	OMIM:603278
HP:0000005	Mode of inheritance	51750	RTEL1	OMIM:616373
HP:0000005	Mode of inheritance	5073	PARN	OMIM:616371
HP:0000005	Mode of inheritance	2956	MSH6	OMIM:614350
HP:0000005	Mode of inheritance	55145	THAP1	OMIM:602629
HP:0000005	Mode of inheritance	2301	FOXE3	OMIM:617349
HP:0000005	Mode of inheritance	64135	IFIH1	OMIM:615846
HP:0000005	Mode of inheritance	182	JAG1	OMIM:118450
HP:0000005	Mode of inheritance	91662	NLRP12	OMIM:611762
HP:0000005	Mode of inheritance	29110	TBK1	OMIM:617900
HP:0000005	Mode of inheritance	9681	DEPDC5	OMIM:604364
HP:0000005	Mode of inheritance	10137	RBM12	OMIM:617629
HP:0000005	Mode of inheritance	6785	ELOVL4	OMIM:133190
HP:0000005	Mode of inheritance	1749	DLX5	OMIM:183600
HP:0000005	Mode of inheritance	1284	COL4A2	OMIM:614483
HP:0000005	Mode of inheritance	8131	NPRL3	OMIM:617118
HP:0000005	Mode of inheritance	120892	LRRK2	OMIM:607060
HP:0000005	Mode of inheritance	4041	LRP5	OMIM:617875
HP:0000005	Mode of inheritance	10641	NPRL2	OMIM:617116
HP:0000005	Mode of inheritance	140628	GATA5	OMIM:617912
HP:0000005	Mode of inheritance	256472	TMEM151A	OMIM:620245
HP:0000005	Mode of inheritance	51062	ATL1	OMIM:182600
HP:0000005	Mode of inheritance	3110	MNX1	OMIM:176450
HP:0000005	Mode of inheritance	6324	SCN1B	OMIM:604233
HP:0000005	Mode of inheritance	1371	CPOX	OMIM:121300
HP:0000005	Mode of inheritance	6599	SMARCC1	OMIM:620241
HP:0000005	Mode of inheritance	6496	SIX3	OMIM:157170
HP:0000005	Mode of inheritance	5903	RANBP2	OMIM:608033
HP:0000005	Mode of inheritance	1630	DCC	OMIM:157600
HP:0000005	Mode of inheritance	5307	PITX1	OMIM:119800
HP:0000005	Mode of inheritance	4093	SMAD9	OMIM:615342
HP:0000005	Mode of inheritance	3832	KIF11	OMIM:152950
HP:0000005	Mode of inheritance	857	CAV1	OMIM:615343
HP:0000005	Mode of inheritance	6772	STAT1	OMIM:614892
HP:0000005	Mode of inheritance	8910	SGCE	OMIM:159900
HP:0000005	Mode of inheritance	5649	RELN	OMIM:616436
HP:0000005	Mode of inheritance	3798	KIF5A	OMIM:617921
HP:0000005	Mode of inheritance	2702	GJA5	OMIM:612474
HP:0000005	Mode of inheritance	2703	GJA8	OMIM:612474
HP:0000005	Mode of inheritance	2271	FH	OMIM:150800
HP:0000005	Mode of inheritance	22858	CILK1	OMIM:617924
HP:0000005	Mode of inheritance	8074	FGF23	OMIM:193100
HP:0000005	Mode of inheritance	4514	MT-CO3	OMIM:535000
HP:0000005	Mode of inheritance	4519	MT-CYB	OMIM:535000
HP:0000005	Mode of inheritance	4541	MT-ND6	OMIM:535000
HP:0000005	Mode of inheritance	4540	MT-ND5	OMIM:535000
HP:0000005	Mode of inheritance	4508	MT-ATP6	OMIM:535000
HP:0000005	Mode of inheritance	4539	MT-ND4L	OMIM:535000
HP:0000005	Mode of inheritance	4535	MT-ND1	OMIM:535000
HP:0000005	Mode of inheritance	4536	MT-ND2	OMIM:535000
HP:0000005	Mode of inheritance	4538	MT-ND4	OMIM:535000
HP:0000005	Mode of inheritance	80000	GREB1L	OMIM:617805
HP:0000005	Mode of inheritance	1861	TOR1A	OMIM:128100
HP:0000005	Mode of inheritance	9987	HNRNPDL	OMIM:609115
HP:0000005	Mode of inheritance	6235	RPS29	OMIM:615909
HP:0000005	Mode of inheritance	4330	MN1	OMIM:607174
HP:0000005	Mode of inheritance	6605	SMARCE1	OMIM:607174
HP:0000005	Mode of inheritance	5728	PTEN	OMIM:607174
HP:0000005	Mode of inheritance	5155	PDGFB	OMIM:607174
HP:0000005	Mode of inheritance	3356	HTR2A	OMIM:608516
HP:0000005	Mode of inheritance	2289	FKBP5	OMIM:608516
HP:0000005	Mode of inheritance	121278	TPH2	OMIM:608516
HP:0000005	Mode of inheritance	219736	STOX1	OMIM:609404
HP:0000005	Mode of inheritance	154	ADRB2	OMIM:601665
HP:0000005	Mode of inheritance	155	ADRB3	OMIM:601665
HP:0000005	Mode of inheritance	5167	ENPP1	OMIM:601665
HP:0000005	Mode of inheritance	7352	UCP3	OMIM:601665
HP:0000005	Mode of inheritance	8431	NR0B2	OMIM:601665
HP:0000005	Mode of inheritance	9607	CARTPT	OMIM:601665
HP:0000005	Mode of inheritance	5443	POMC	OMIM:601665
HP:0000005	Mode of inheritance	51738	GHRL	OMIM:601665
HP:0000005	Mode of inheritance	5468	PPARG	OMIM:601665
HP:0000005	Mode of inheritance	9672	SDC3	OMIM:601665
HP:0000005	Mode of inheritance	181	AGRP	OMIM:601665
HP:0000005	Mode of inheritance	7157	TP53	OMIM:607107
HP:0000005	Mode of inheritance	22861	NLRP1	OMIM:606579
HP:0000005	Mode of inheritance	652	BMP4	OMIM:600625
HP:0000005	Mode of inheritance	581	BAX	OMIM:613065
HP:0000005	Mode of inheritance	2322	FLT3	OMIM:613065
HP:0000005	Mode of inheritance	2782	GNB1	OMIM:613065
HP:0000005	Mode of inheritance	4683	NBN	OMIM:613065
HP:0000005	Mode of inheritance	8021	NUP214	OMIM:613065
HP:0000005	Mode of inheritance	613	BCR	OMIM:613065
HP:0000005	Mode of inheritance	6886	TAL1	OMIM:613065
HP:0000005	Mode of inheritance	6887	TAL2	OMIM:613065
HP:0000005	Mode of inheritance	8542	APOL1	OMIM:612551
HP:0000005	Mode of inheritance	64241	ABCG8	OMIM:611465
HP:0000005	Mode of inheritance	144568	A2ML1	OMIM:166760
HP:0000005	Mode of inheritance	3075	CFH	OMIM:610698
HP:0000005	Mode of inheritance	5654	HTRA1	OMIM:610149
HP:0000005	Mode of inheritance	1471	CST3	OMIM:611953
HP:0000005	Mode of inheritance	3664	IRF6	OMIM:608864
HP:0000005	Mode of inheritance	871	SERPINH1	OMIM:610504
HP:0000005	Mode of inheritance	23767	FLRT3	OMIM:615271
HP:0000005	Mode of inheritance	7298	TYMS	OMIM:620040
HP:0000005	Mode of inheritance	128	ADH5	OMIM:619151
HP:0000005	Mode of inheritance	79659	DYNC2H1	OMIM:613091
HP:0000005	Mode of inheritance	9573	GDF3	OMIM:613703
HP:0000005	Mode of inheritance	392255	GDF6	OMIM:613703
HP:0000005	Mode of inheritance	23347	SMCHD1	OMIM:158901
HP:0000005	Mode of inheritance	55791	LRIF1	OMIM:619477
HP:0000005	Mode of inheritance	1789	DNMT3B	OMIM:619478
HP:0000005	Mode of inheritance	10804	GJB6	OMIM:220290
HP:0000005	Mode of inheritance	2706	GJB2	OMIM:220290
HP:0000005	Mode of inheritance	2707	GJB3	OMIM:220290
HP:0000005	Mode of inheritance	28234	SLCO1B3	OMIM:237450
HP:0000005	Mode of inheritance	10599	SLCO1B1	OMIM:237450
HP:0000005	Mode of inheritance	4750	NEK1	OMIM:263520
HP:0000005	Mode of inheritance	7681	MKRN3	OMIM:615346
HP:0000005	Mode of inheritance	23189	KANK1	OMIM:612900
HP:0000005	Mode of inheritance	5296	PIK3R2	OMIM:603387
HP:0000005	Mode of inheritance	23250	ATP11A	OMIM:619851
HP:0000005	Mode of inheritance	5594	MAPK1	OMIM:619087
HP:0000005	Mode of inheritance	57680	CHD8	OMIM:615032
HP:0000005	Mode of inheritance	10501	SEMA6B	OMIM:618876
HP:0000005	Mode of inheritance	2783	GNB2	OMIM:619503
HP:0000005	Mode of inheritance	58508	KMT2C	OMIM:617768
HP:0000005	Mode of inheritance	27102	EIF2AK1	OMIM:618878
HP:0000005	Mode of inheritance	5430	POLR2A	OMIM:618603
HP:0000005	Mode of inheritance	51341	ZBTB7A	OMIM:619769
HP:0000005	Mode of inheritance	6716	SRD5A2	OMIM:264600
HP:0000005	Mode of inheritance	79983	POF1B	OMIM:300604
HP:0000005	Mode of inheritance	4091	SMAD6	OMIM:614823
HP:0001426	Multifactorial inheritance	154	ADRB2	OMIM:600807
HP:0001426	Multifactorial inheritance	240	ALOX5	OMIM:600807
HP:0001426	Multifactorial inheritance	7941	PLA2G7	OMIM:600807
HP:0001426	Multifactorial inheritance	6356	CCL11	OMIM:600807
HP:0001426	Multifactorial inheritance	7124	TNF	OMIM:600807
HP:0001426	Multifactorial inheritance	3176	HNMT	OMIM:600807
HP:0001426	Multifactorial inheritance	4589	MUC7	OMIM:600807
HP:0001426	Multifactorial inheritance	117156	SCGB3A2	OMIM:600807
HP:0001426	Multifactorial inheritance	3135	HLA-G	OMIM:600807
HP:0001426	Multifactorial inheritance	3596	IL13	OMIM:600807
HP:0001426	Multifactorial inheritance	6331	SCN5A	OMIM:272120
HP:0001426	Multifactorial inheritance	672	BRCA1	OMIM:604370
HP:0001426	Multifactorial inheritance	114798	SLITRK1	OMIM:613229
HP:0001426	Multifactorial inheritance	2147	F2	OMIM:601367
HP:0001426	Multifactorial inheritance	4846	NOS3	OMIM:601367
HP:0001426	Multifactorial inheritance	4846	NOS3	OMIM:145500
HP:0001426	Multifactorial inheritance	5583	PRKCH	OMIM:601367
HP:0001426	Multifactorial inheritance	2153	F5	OMIM:601367
HP:0001426	Multifactorial inheritance	241	ALOX5AP	OMIM:601367
HP:0001426	Multifactorial inheritance	57502	NLGN4X	OMIM:300495
HP:0001426	Multifactorial inheritance	3107	HLA-C	OMIM:177900
HP:0001426	Multifactorial inheritance	5078	PAX4	OMIM:612227
HP:0001426	Multifactorial inheritance	3117	HLA-DQA1	OMIM:212750
HP:0001426	Multifactorial inheritance	3119	HLA-DQB1	OMIM:212750
HP:0001426	Multifactorial inheritance	3119	HLA-DQB1	OMIM:126200
HP:0001426	Multifactorial inheritance	2487	FRZB	OMIM:165720
HP:0001426	Multifactorial inheritance	3106	HLA-B	OMIM:106300
HP:0001426	Multifactorial inheritance	6638	SNRPN	OMIM:209850
HP:0001426	Multifactorial inheritance	64127	NOD2	OMIM:266600
HP:0001426	Multifactorial inheritance	64127	NOD2	OMIM:617321
HP:0001426	Multifactorial inheritance	3569	IL6	OMIM:266600
HP:0001426	Multifactorial inheritance	1280	COL2A1	OMIM:150600
HP:0001426	Multifactorial inheritance	50833	TAS2R16	OMIM:103780
HP:0001426	Multifactorial inheritance	3356	HTR2A	OMIM:103780
HP:0001426	Multifactorial inheritance	125	ADH1B	OMIM:103780
HP:0001426	Multifactorial inheritance	126	ADH1C	OMIM:103780
HP:0001426	Multifactorial inheritance	2555	GABRA2	OMIM:103780
HP:0001426	Multifactorial inheritance	5133	PDCD1	OMIM:126200
HP:0001426	Multifactorial inheritance	3123	HLA-DRB1	OMIM:126200
HP:0001426	Multifactorial inheritance	1889	ECE1	OMIM:145500
HP:0001426	Multifactorial inheritance	1577	CYP3A5	OMIM:145500
HP:0001426	Multifactorial inheritance	2784	GNB3	OMIM:145500
HP:0001426	Multifactorial inheritance	8490	RGS5	OMIM:145500
HP:0001426	Multifactorial inheritance	5740	PTGIS	OMIM:145500
HP:0001426	Multifactorial inheritance	118	ADD1	OMIM:145500
HP:0001426	Multifactorial inheritance	481	ATP1B1	OMIM:145500
HP:0001426	Multifactorial inheritance	185	AGTR1	OMIM:145500
HP:0001426	Multifactorial inheritance	183	AGT	OMIM:145500
HP:0001426	Multifactorial inheritance	2289	FKBP5	OMIM:608516
HP:0001426	Multifactorial inheritance	121278	TPH2	OMIM:608516
HP:0001426	Multifactorial inheritance	219736	STOX1	OMIM:609404
HP:0001426	Multifactorial inheritance	155	ADRB3	OMIM:601665
HP:0001426	Multifactorial inheritance	5167	ENPP1	OMIM:601665
HP:0001426	Multifactorial inheritance	7352	UCP3	OMIM:601665
HP:0001426	Multifactorial inheritance	8431	NR0B2	OMIM:601665
HP:0001426	Multifactorial inheritance	9607	CARTPT	OMIM:601665
HP:0001426	Multifactorial inheritance	5443	POMC	OMIM:601665
HP:0001426	Multifactorial inheritance	51738	GHRL	OMIM:601665
HP:0001426	Multifactorial inheritance	5468	PPARG	OMIM:601665
HP:0001426	Multifactorial inheritance	9672	SDC3	OMIM:601665
HP:0001426	Multifactorial inheritance	181	AGRP	OMIM:601665
HP:0001426	Multifactorial inheritance	7157	TP53	OMIM:607107
HP:0001426	Multifactorial inheritance	22861	NLRP1	OMIM:606579
HP:0001426	Multifactorial inheritance	652	BMP4	OMIM:600625
HP:0001426	Multifactorial inheritance	581	BAX	OMIM:613065
HP:0001426	Multifactorial inheritance	2322	FLT3	OMIM:613065
HP:0001426	Multifactorial inheritance	2782	GNB1	OMIM:613065
HP:0001426	Multifactorial inheritance	4683	NBN	OMIM:613065
HP:0001426	Multifactorial inheritance	8021	NUP214	OMIM:613065
HP:0001426	Multifactorial inheritance	613	BCR	OMIM:613065
HP:0001426	Multifactorial inheritance	6886	TAL1	OMIM:613065
HP:0001426	Multifactorial inheritance	6887	TAL2	OMIM:613065
HP:0001426	Multifactorial inheritance	8542	APOL1	OMIM:612551
HP:0001426	Multifactorial inheritance	64241	ABCG8	OMIM:611465
HP:0001426	Multifactorial inheritance	144568	A2ML1	OMIM:166760
HP:0001426	Multifactorial inheritance	3075	CFH	OMIM:610698
HP:0001426	Multifactorial inheritance	5654	HTRA1	OMIM:610149
HP:0001426	Multifactorial inheritance	1471	CST3	OMIM:611953
HP:0001426	Multifactorial inheritance	3664	IRF6	OMIM:608864
HP:0001426	Multifactorial inheritance	871	SERPINH1	OMIM:610504
HP:0001426	Multifactorial inheritance	23767	FLRT3	OMIM:615271
HP:0001426	Multifactorial inheritance	7298	TYMS	OMIM:620040
HP:0001426	Multifactorial inheritance	128	ADH5	OMIM:619151
HP:0001426	Multifactorial inheritance	79659	DYNC2H1	OMIM:613091
HP:0001426	Multifactorial inheritance	9573	GDF3	OMIM:613703
HP:0001426	Multifactorial inheritance	392255	GDF6	OMIM:613703
HP:0001426	Multifactorial inheritance	23347	SMCHD1	OMIM:158901
HP:0001426	Multifactorial inheritance	55791	LRIF1	OMIM:619477
HP:0001426	Multifactorial inheritance	1789	DNMT3B	OMIM:619478
HP:0001426	Multifactorial inheritance	10804	GJB6	OMIM:220290
HP:0001426	Multifactorial inheritance	2706	GJB2	OMIM:220290
HP:0001426	Multifactorial inheritance	2707	GJB3	OMIM:220290
HP:0001426	Multifactorial inheritance	28234	SLCO1B3	OMIM:237450
HP:0001426	Multifactorial inheritance	10599	SLCO1B1	OMIM:237450
HP:0001426	Multifactorial inheritance	4750	NEK1	OMIM:263520
HP:0001427	Mitochondrial inheritance	4512	MT-CO1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4513	MT-CO2	OMIM:540000
HP:0001427	Mitochondrial inheritance	4514	MT-CO3	OMIM:540000
HP:0001427	Mitochondrial inheritance	4514	MT-CO3	OMIM:535000
HP:0001427	Mitochondrial inheritance	4519	MT-CYB	OMIM:540000
HP:0001427	Mitochondrial inheritance	4519	MT-CYB	OMIM:535000
HP:0001427	Mitochondrial inheritance	4511	MT-TC	OMIM:540000
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:220110
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:580000
HP:0001427	Mitochondrial inheritance	4575	MT-TS2	OMIM:540000
HP:0001427	Mitochondrial inheritance	4558	MT-TF	OMIM:540000
HP:0001427	Mitochondrial inheritance	4558	MT-TF	OMIM:545000
HP:0001427	Mitochondrial inheritance	4541	MT-ND6	OMIM:540000
HP:0001427	Mitochondrial inheritance	4541	MT-ND6	OMIM:535000
HP:0001427	Mitochondrial inheritance	4567	MT-TL1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4567	MT-TL1	OMIM:545000
HP:0001427	Mitochondrial inheritance	4540	MT-ND5	OMIM:540000
HP:0001427	Mitochondrial inheritance	4540	MT-ND5	OMIM:535000
HP:0001427	Mitochondrial inheritance	4566	MT-TK	OMIM:540000
HP:0001427	Mitochondrial inheritance	4566	MT-TK	OMIM:545000
HP:0001427	Mitochondrial inheritance	4535	MT-ND1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4535	MT-ND1	OMIM:535000
HP:0001427	Mitochondrial inheritance	4572	MT-TQ	OMIM:540000
HP:0001427	Mitochondrial inheritance	4577	MT-TV	OMIM:540000
HP:0001427	Mitochondrial inheritance	4578	MT-TW	OMIM:540000
HP:0001427	Mitochondrial inheritance	4570	MT-TN	OMIM:220110
HP:0001427	Mitochondrial inheritance	6834	SURF1	OMIM:220110
HP:0001427	Mitochondrial inheritance	4724	NDUFS4	OMIM:252010
HP:0001427	Mitochondrial inheritance	4576	MT-TT	OMIM:551000
HP:0001427	Mitochondrial inheritance	55687	TRMU	OMIM:580000
HP:0001427	Mitochondrial inheritance	4508	MT-ATP6	OMIM:551500
HP:0001427	Mitochondrial inheritance	4508	MT-ATP6	OMIM:535000
HP:0001427	Mitochondrial inheritance	112812	FDX2	OMIM:251900
HP:0001427	Mitochondrial inheritance	4571	MT-TP	OMIM:545000
HP:0001427	Mitochondrial inheritance	4565	MT-TI	OMIM:545000
HP:0001427	Mitochondrial inheritance	4539	MT-ND4L	OMIM:535000
HP:0001427	Mitochondrial inheritance	4536	MT-ND2	OMIM:535000
HP:0001427	Mitochondrial inheritance	4538	MT-ND4	OMIM:535000
HP:0001427	Mitochondrial inheritance	617	BCS1L	OMIM:124000
HP:0001428	Somatic mutation	11281	POU6F2	OMIM:601583
HP:0001428	Somatic mutation	6714	SRC	OMIM:114500
HP:0001428	Somatic mutation	201163	FLCN	OMIM:114500
HP:0001428	Somatic mutation	10395	DLC1	OMIM:114500
HP:0001428	Somatic mutation	11200	CHEK2	OMIM:114500
HP:0001428	Somatic mutation	11200	CHEK2	OMIM:259500
HP:0001428	Somatic mutation	11200	CHEK2	OMIM:176807
HP:0001428	Somatic mutation	11200	CHEK2	OMIM:114480
HP:0001428	Somatic mutation	8313	AXIN2	OMIM:114500
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:114500
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:167000
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:613659
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:602501
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:182000
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:114480
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:211980
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:155500
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:114550
HP:0001428	Somatic mutation	5290	PIK3CA	OMIM:613089
HP:0001428	Somatic mutation	2033	EP300	OMIM:114500
HP:0001428	Somatic mutation	5782	PTPN12	OMIM:114500
HP:0001428	Somatic mutation	5320	PLA2G2A	OMIM:114500
HP:0001428	Somatic mutation	6790	AURKA	OMIM:114500
HP:0001428	Somatic mutation	1630	DCC	OMIM:114500
HP:0001428	Somatic mutation	1630	DCC	OMIM:133239
HP:0001428	Somatic mutation	27030	MLH3	OMIM:114500
HP:0001428	Somatic mutation	27030	MLH3	OMIM:608089
HP:0001428	Somatic mutation	581	BAX	OMIM:114500
HP:0001428	Somatic mutation	581	BAX	OMIM:613065
HP:0001428	Somatic mutation	25788	RAD54B	OMIM:114500
HP:0001428	Somatic mutation	595	CCND1	OMIM:114500
HP:0001428	Somatic mutation	595	CCND1	OMIM:254500
HP:0001428	Somatic mutation	699	BUB1	OMIM:114500
HP:0001428	Somatic mutation	701	BUB1B	OMIM:114500
HP:0001428	Somatic mutation	2261	FGFR3	OMIM:114500
HP:0001428	Somatic mutation	2261	FGFR3	OMIM:603956
HP:0001428	Somatic mutation	2261	FGFR3	OMIM:273300
HP:0001428	Somatic mutation	2261	FGFR3	OMIM:109800
HP:0001428	Somatic mutation	7097	TLR2	OMIM:114500
HP:0001428	Somatic mutation	4893	NRAS	OMIM:114500
HP:0001428	Somatic mutation	4893	NRAS	OMIM:137550
HP:0001428	Somatic mutation	4893	NRAS	OMIM:614470
HP:0001428	Somatic mutation	4893	NRAS	OMIM:188470
HP:0001428	Somatic mutation	4893	NRAS	OMIM:249400
HP:0001428	Somatic mutation	324	APC	OMIM:114500
HP:0001428	Somatic mutation	324	APC	OMIM:613659
HP:0001428	Somatic mutation	324	APC	OMIM:114550
HP:0001428	Somatic mutation	1499	CTNNB1	OMIM:114500
HP:0001428	Somatic mutation	1499	CTNNB1	OMIM:155255
HP:0001428	Somatic mutation	1499	CTNNB1	OMIM:167000
HP:0001428	Somatic mutation	1499	CTNNB1	OMIM:132600
HP:0001428	Somatic mutation	1499	CTNNB1	OMIM:114550
HP:0001428	Somatic mutation	7157	TP53	OMIM:114500
HP:0001428	Somatic mutation	7157	TP53	OMIM:259500
HP:0001428	Somatic mutation	7157	TP53	OMIM:260350
HP:0001428	Somatic mutation	7157	TP53	OMIM:137800
HP:0001428	Somatic mutation	7157	TP53	OMIM:114480
HP:0001428	Somatic mutation	7157	TP53	OMIM:114550
HP:0001428	Somatic mutation	4163	MCC	OMIM:114500
HP:0001428	Somatic mutation	207	AKT1	OMIM:114500
HP:0001428	Somatic mutation	207	AKT1	OMIM:167000
HP:0001428	Somatic mutation	207	AKT1	OMIM:176920
HP:0001428	Somatic mutation	207	AKT1	OMIM:114480
HP:0001428	Somatic mutation	5157	PDGFRL	OMIM:114500
HP:0001428	Somatic mutation	5157	PDGFRL	OMIM:114550
HP:0001428	Somatic mutation	5795	PTPRJ	OMIM:114500
HP:0001428	Somatic mutation	673	BRAF	OMIM:114500
HP:0001428	Somatic mutation	673	BRAF	OMIM:211980
HP:0001428	Somatic mutation	26511	CHIC2	OMIM:601626
HP:0001428	Somatic mutation	3717	JAK2	OMIM:601626
HP:0001428	Somatic mutation	3717	JAK2	OMIM:254450
HP:0001428	Somatic mutation	3717	JAK2	OMIM:263300
HP:0001428	Somatic mutation	3717	JAK2	OMIM:614521
HP:0001428	Somatic mutation	3845	KRAS	OMIM:601626
HP:0001428	Somatic mutation	3845	KRAS	OMIM:613659
HP:0001428	Somatic mutation	3845	KRAS	OMIM:108010
HP:0001428	Somatic mutation	3845	KRAS	OMIM:614470
HP:0001428	Somatic mutation	3845	KRAS	OMIM:260350
HP:0001428	Somatic mutation	3845	KRAS	OMIM:114480
HP:0001428	Somatic mutation	3845	KRAS	OMIM:211980
HP:0001428	Somatic mutation	3845	KRAS	OMIM:600268
HP:0001428	Somatic mutation	3845	KRAS	OMIM:109800
HP:0001428	Somatic mutation	8021	NUP214	OMIM:601626
HP:0001428	Somatic mutation	8021	NUP214	OMIM:613065
HP:0001428	Somatic mutation	2120	ETV6	OMIM:601626
HP:0001428	Somatic mutation	1050	CEBPA	OMIM:601626
HP:0001428	Somatic mutation	2624	GATA2	OMIM:601626
HP:0001428	Somatic mutation	2624	GATA2	OMIM:614286
HP:0001428	Somatic mutation	7015	TERT	OMIM:601626
HP:0001428	Somatic mutation	2322	FLT3	OMIM:601626
HP:0001428	Somatic mutation	2322	FLT3	OMIM:613065
HP:0001428	Somatic mutation	861	RUNX1	OMIM:601626
HP:0001428	Somatic mutation	1788	DNMT3A	OMIM:601626
HP:0001428	Somatic mutation	6455	SH3GL1	OMIM:601626
HP:0001428	Somatic mutation	4869	NPM1	OMIM:601626
HP:0001428	Somatic mutation	8028	MLLT10	OMIM:601626
HP:0001428	Somatic mutation	3815	KIT	OMIM:601626
HP:0001428	Somatic mutation	3815	KIT	OMIM:273300
HP:0001428	Somatic mutation	8301	PICALM	OMIM:601626
HP:0001428	Somatic mutation	4026	LPP	OMIM:601626
HP:0001428	Somatic mutation	1385	CREB1	OMIM:612160
HP:0001428	Somatic mutation	23432	GPR161	OMIM:155255
HP:0001428	Somatic mutation	51684	SUFU	OMIM:155255
HP:0001428	Somatic mutation	8518	ELP1	OMIM:155255
HP:0001428	Somatic mutation	8643	PTCH2	OMIM:155255
HP:0001428	Somatic mutation	675	BRCA2	OMIM:155255
HP:0001428	Somatic mutation	675	BRCA2	OMIM:176807
HP:0001428	Somatic mutation	675	BRCA2	OMIM:114480
HP:0001428	Somatic mutation	675	BRCA2	OMIM:194070
HP:0001428	Somatic mutation	6208	RPS14	OMIM:153550
HP:0001428	Somatic mutation	4609	MYC	OMIM:113970
HP:0001428	Somatic mutation	115908	CTHRC1	OMIM:614266
HP:0001428	Somatic mutation	4481	MSR1	OMIM:614266
HP:0001428	Somatic mutation	51008	ASCC1	OMIM:614266
HP:0001428	Somatic mutation	10019	SH2B3	OMIM:254450
HP:0001428	Somatic mutation	811	CALR	OMIM:254450
HP:0001428	Somatic mutation	4352	MPL	OMIM:254450
HP:0001428	Somatic mutation	4352	MPL	OMIM:601977
HP:0001428	Somatic mutation	51604	PIGT	OMIM:615399
HP:0001428	Somatic mutation	999	CDH1	OMIM:167000
HP:0001428	Somatic mutation	999	CDH1	OMIM:608089
HP:0001428	Somatic mutation	999	CDH1	OMIM:176807
HP:0001428	Somatic mutation	999	CDH1	OMIM:114480
HP:0001428	Somatic mutation	5071	PRKN	OMIM:167000
HP:0001428	Somatic mutation	5071	PRKN	OMIM:211980
HP:0001428	Somatic mutation	4978	OPCML	OMIM:167000
HP:0001428	Somatic mutation	2064	ERBB2	OMIM:167000
HP:0001428	Somatic mutation	2064	ERBB2	OMIM:613659
HP:0001428	Somatic mutation	2064	ERBB2	OMIM:137800
HP:0001428	Somatic mutation	2064	ERBB2	OMIM:211980
HP:0001428	Somatic mutation	2778	GNAS	OMIM:219080
HP:0001428	Somatic mutation	79798	ARMC5	OMIM:615954
HP:0001428	Somatic mutation	3553	IL1B	OMIM:613659
HP:0001428	Somatic mutation	4595	MUTYH	OMIM:613659
HP:0001428	Somatic mutation	3557	IL1RN	OMIM:613659
HP:0001428	Somatic mutation	843	CASP10	OMIM:613659
HP:0001428	Somatic mutation	3659	IRF1	OMIM:613659
HP:0001428	Somatic mutation	3659	IRF1	OMIM:211980
HP:0001428	Somatic mutation	1316	KLF6	OMIM:613659
HP:0001428	Somatic mutation	1316	KLF6	OMIM:176807
HP:0001428	Somatic mutation	2263	FGFR2	OMIM:613659
HP:0001428	Somatic mutation	5156	PDGFRA	OMIM:607685
HP:0001428	Somatic mutation	5925	RB1	OMIM:180200
HP:0001428	Somatic mutation	5925	RB1	OMIM:259500
HP:0001428	Somatic mutation	5925	RB1	OMIM:109800
HP:0001428	Somatic mutation	9049	AIP	OMIM:102200
HP:0001428	Somatic mutation	3569	IL6	OMIM:108010
HP:0001428	Somatic mutation	5324	PLAG1	OMIM:181030
HP:0001428	Somatic mutation	3265	HRAS	OMIM:137550
HP:0001428	Somatic mutation	3265	HRAS	OMIM:188470
HP:0001428	Somatic mutation	3265	HRAS	OMIM:109800
HP:0001428	Somatic mutation	11178	LZTS1	OMIM:133239
HP:0001428	Somatic mutation	51741	WWOX	OMIM:133239
HP:0001428	Somatic mutation	6049	RNF6	OMIM:133239
HP:0001428	Somatic mutation	7048	TGFBR2	OMIM:133239
HP:0001428	Somatic mutation	4771	NF2	OMIM:162091
HP:0001428	Somatic mutation	6598	SMARCB1	OMIM:162091
HP:0001428	Somatic mutation	91754	NEK9	OMIM:617025
HP:0001428	Somatic mutation	2782	GNB1	OMIM:613065
HP:0001428	Somatic mutation	2782	GNB1	OMIM:614286
HP:0001428	Somatic mutation	4683	NBN	OMIM:613065
HP:0001428	Somatic mutation	613	BCR	OMIM:613065
HP:0001428	Somatic mutation	613	BCR	OMIM:608232
HP:0001428	Somatic mutation	6886	TAL1	OMIM:613065
HP:0001428	Somatic mutation	6887	TAL2	OMIM:613065
HP:0001428	Somatic mutation	23095	KIF1B	OMIM:256700
HP:0001428	Somatic mutation	4926	NUMA1	OMIM:612376
HP:0001428	Somatic mutation	5914	RARA	OMIM:612376
HP:0001428	Somatic mutation	2130	EWSR1	OMIM:612219
HP:0001428	Somatic mutation	4437	MSH3	OMIM:608089
HP:0001428	Somatic mutation	2956	MSH6	OMIM:608089
HP:0001428	Somatic mutation	6794	STK11	OMIM:273300
HP:0001428	Somatic mutation	6794	STK11	OMIM:260350
HP:0001428	Somatic mutation	8915	BCL10	OMIM:273300
HP:0001428	Somatic mutation	8915	BCL10	OMIM:156240
HP:0001428	Somatic mutation	7490	WT1	OMIM:156240
HP:0001428	Somatic mutation	7490	WT1	OMIM:194080
HP:0001428	Somatic mutation	7490	WT1	OMIM:136680
HP:0001428	Somatic mutation	7490	WT1	OMIM:194072
HP:0001428	Somatic mutation	7490	WT1	OMIM:194070
HP:0001428	Somatic mutation	9759	HDAC4	OMIM:600430
HP:0001428	Somatic mutation	7030	TFE3	OMIM:300854
HP:0001428	Somatic mutation	463	ZFHX3	OMIM:176807
HP:0001428	Somatic mutation	5728	PTEN	OMIM:176807
HP:0001428	Somatic mutation	367	AR	OMIM:176807
HP:0001428	Somatic mutation	4601	MXI1	OMIM:176807
HP:0001428	Somatic mutation	8379	MAD1L1	OMIM:176807
HP:0001428	Somatic mutation	4089	SMAD4	OMIM:260350
HP:0001428	Somatic mutation	23451	SF3B1	OMIM:614286
HP:0001428	Somatic mutation	54790	TET2	OMIM:614286
HP:0001428	Somatic mutation	171023	ASXL1	OMIM:614286
HP:0001428	Somatic mutation	3417	IDH1	OMIM:137800
HP:0001428	Somatic mutation	6757	SSX2	OMIM:300813
HP:0001428	Somatic mutation	57522	SRGAP1	OMIM:188470
HP:0001428	Somatic mutation	9562	MINPP1	OMIM:188470
HP:0001428	Somatic mutation	83990	BRIP1	OMIM:114480
HP:0001428	Somatic mutation	5002	SLC22A18	OMIM:114480
HP:0001428	Somatic mutation	5002	SLC22A18	OMIM:211980
HP:0001428	Somatic mutation	4835	NQO2	OMIM:114480
HP:0001428	Somatic mutation	5245	PHB1	OMIM:114480
HP:0001428	Somatic mutation	3161	HMMR	OMIM:114480
HP:0001428	Somatic mutation	580	BARD1	OMIM:114480
HP:0001428	Somatic mutation	672	BRCA1	OMIM:114480
HP:0001428	Somatic mutation	472	ATM	OMIM:114480
HP:0001428	Somatic mutation	8493	PPM1D	OMIM:114480
HP:0001428	Somatic mutation	79728	PALB2	OMIM:114480
HP:0001428	Somatic mutation	5888	RAD51	OMIM:114480
HP:0001428	Somatic mutation	7517	XRCC3	OMIM:114480
HP:0001428	Somatic mutation	9821	RB1CC1	OMIM:114480
HP:0001428	Somatic mutation	2099	ESR1	OMIM:114480
HP:0001428	Somatic mutation	841	CASP8	OMIM:114480
HP:0001428	Somatic mutation	841	CASP8	OMIM:211980
HP:0001428	Somatic mutation	841	CASP8	OMIM:114550
HP:0001428	Somatic mutation	8438	RAD54L	OMIM:114480
HP:0001428	Somatic mutation	2131	EXT1	OMIM:215300
HP:0001428	Somatic mutation	2074	ERCC6	OMIM:211980
HP:0001428	Somatic mutation	1956	EGFR	OMIM:211980
HP:0001428	Somatic mutation	1548	CYP2A6	OMIM:211980
HP:0001428	Somatic mutation	356	FASLG	OMIM:211980
HP:0001428	Somatic mutation	5519	PPP2R1B	OMIM:211980
HP:0001428	Somatic mutation	1326	MAP3K8	OMIM:211980
HP:0001428	Somatic mutation	4763	NF1	OMIM:607785
HP:0001428	Somatic mutation	23092	ARHGAP26	OMIM:607785
HP:0001428	Somatic mutation	867	CBL	OMIM:607785
HP:0001428	Somatic mutation	5781	PTPN11	OMIM:607785
HP:0001428	Somatic mutation	25	ABL1	OMIM:608232
HP:0001428	Somatic mutation	7248	TSC1	OMIM:606690
HP:0001428	Somatic mutation	7248	TSC1	OMIM:607341
HP:0001428	Somatic mutation	7249	TSC2	OMIM:606690
HP:0001428	Somatic mutation	7249	TSC2	OMIM:607341
HP:0001428	Somatic mutation	2475	MTOR	OMIM:607341
HP:0001428	Somatic mutation	5081	PAX7	OMIM:268220
HP:0001428	Somatic mutation	2308	FOXO1	OMIM:268220
HP:0001428	Somatic mutation	5077	PAX3	OMIM:268220
HP:0001428	Somatic mutation	29071	C1GALT1C1	OMIM:300622
HP:0001428	Somatic mutation	4233	MET	OMIM:114550
HP:0001428	Somatic mutation	4233	MET	OMIM:605074
HP:0001428	Somatic mutation	8312	AXIN1	OMIM:114550
HP:0001428	Somatic mutation	3482	IGF2R	OMIM:114550
HP:0001428	Somatic mutation	4615	MYD88	OMIM:153600
HP:0001428	Somatic mutation	5277	PIGA	OMIM:300818
HP:0001428	Somatic mutation	2260	FGFR1	OMIM:613001
HP:0001428	Somatic mutation	8148	TAF15	OMIM:612237
HP:0001428	Somatic mutation	8013	NR4A3	OMIM:612237
HP:0001428	Somatic mutation	79058	ASPSCR1	OMIM:606243
HP:0001428	Somatic mutation	5080	PAX6	OMIM:194072
HP:0001428	Somatic mutation	3981	LIG4	OMIM:254500
HP:0001428	Somatic mutation	79577	CDC73	OMIM:608266
HP:0001428	Somatic mutation	5546	PRCC	OMIM:605074
HP:0001428	Somatic mutation	2719	GPC3	OMIM:194070
HP:0001428	Somatic mutation	2239	GPC4	OMIM:194070
HP:0001428	Somatic mutation	3481	IGF2	OMIM:194070
HP:0001428	Somatic mutation	283120	H19	OMIM:194070
HP:0011641	Coronary artery fistula	8496	PPFIBP1	OMIM:620024
HP:0011641	Coronary artery fistula	51434	ANAPC7	OMIM:619699
HP:0011642	Abnormal coronary sinus morphology	745	MYRF	OMIM:618280
HP:0011642	Abnormal coronary sinus morphology	55181	SMG8	OMIM:619268
HP:0011642	Abnormal coronary sinus morphology	10526	IPO8	OMIM:619472
HP:0011645	Dilatation of the sinus of Valsalva	4088	SMAD3	ORPHA:284984
HP:0011645	Dilatation of the sinus of Valsalva	4088	SMAD3	OMIM:613795
HP:0011645	Dilatation of the sinus of Valsalva	2316	FLNA	OMIM:304120
HP:0011648	Patent ductus arteriosus after birth at term	5718	PSMD12	ORPHA:529962
HP:0011648	Patent ductus arteriosus after birth at term	2186	BPTF	ORPHA:529962
HP:0011648	Patent ductus arteriosus after birth at term	6651	SON	ORPHA:500150
HP:0011648	Patent ductus arteriosus after birth at term	808	CALM3	OMIM:618782
HP:0011649	Patent ductus arteriosus after premature birth	54892	NCAPG2	OMIM:618460
HP:0011640	Single coronary artery origin	100128908	CIROP	OMIM:619702
HP:0011640	Single coronary artery origin	137814	NKX2-6	ORPHA:3384
HP:0011640	Single coronary artery origin	23129	PLXND1	ORPHA:3384
HP:0001430	Abnormality of the calf musculature	57104	PNPLA2	ORPHA:565612
HP:0001430	Abnormality of the calf musculature	55958	KLHL9	ORPHA:399081
HP:0001430	Abnormality of the calf musculature	29926	GMPPA	ORPHA:869
HP:0001430	Abnormality of the calf musculature	60684	TRAPPC11	ORPHA:869
HP:0001430	Abnormality of the calf musculature	8086	AAAS	ORPHA:869
HP:0001430	Abnormality of the calf musculature	9782	MATR3	ORPHA:600
HP:0001430	Abnormality of the calf musculature	4625	MYH7	ORPHA:59135
HP:0001430	Abnormality of the calf musculature	203859	ANO5	ORPHA:206549
HP:0001430	Abnormality of the calf musculature	2318	FLNC	OMIM:614065
HP:0001430	Abnormality of the calf musculature	6445	SGCG	ORPHA:353
HP:0001430	Abnormality of the calf musculature	6445	SGCG	OMIM:253700
HP:0001430	Abnormality of the calf musculature	29925	GMPPB	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	79147	FKRP	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	29954	POMT2	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	84197	POMK	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	55624	POMGNT1	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	10585	POMT1	ORPHA:370959
HP:0001430	Abnormality of the calf musculature	1756	DMD	OMIM:300376
HP:0001430	Abnormality of the calf musculature	1756	DMD	OMIM:310200
HP:0001430	Abnormality of the calf musculature	1605	DAG1	ORPHA:280333
HP:0001430	Abnormality of the calf musculature	22954	TRIM32	OMIM:254110
HP:0001430	Abnormality of the calf musculature	5468	PPARG	ORPHA:79083
HP:0001430	Abnormality of the calf musculature	859	CAV3	ORPHA:488650
HP:0001430	Abnormality of the calf musculature	6443	SGCB	OMIM:604286
HP:0001430	Abnormality of the calf musculature	4703	NEB	OMIM:256030
HP:0001430	Abnormality of the calf musculature	6442	SGCA	ORPHA:62
HP:0001430	Abnormality of the calf musculature	729920	CRPPA	ORPHA:352479
HP:0001430	Abnormality of the calf musculature	2201	FBN2	OMIM:121050
HP:0001430	Abnormality of the calf musculature	7273	TTN	OMIM:603689
HP:0001430	Abnormality of the calf musculature	7273	TTN	ORPHA:178464
HP:0001430	Abnormality of the calf musculature	7273	TTN	OMIM:611705
HP:0001430	Abnormality of the calf musculature	10367	MICU1	OMIM:615673
HP:0001430	Abnormality of the calf musculature	6606	SMN1	OMIM:271150
HP:0001430	Abnormality of the calf musculature	2218	FKTN	OMIM:253800
HP:0001430	Abnormality of the calf musculature	2218	FKTN	OMIM:611615
HP:0001430	Abnormality of the calf musculature	2218	FKTN	OMIM:611588
HP:0001430	Abnormality of the calf musculature	274	BIN1	ORPHA:169189
HP:0001430	Abnormality of the calf musculature	64419	MTMR14	ORPHA:169189
HP:0001430	Abnormality of the calf musculature	4618	MYF6	ORPHA:169189
HP:0001430	Abnormality of the calf musculature	1785	DNM2	ORPHA:169189
HP:0001430	Abnormality of the calf musculature	6261	RYR1	ORPHA:169189
HP:0001430	Abnormality of the calf musculature	5339	PLEC	ORPHA:254361
HP:0001430	Abnormality of the calf musculature	8291	DYSF	ORPHA:268
HP:0001430	Abnormality of the calf musculature	8291	DYSF	ORPHA:45448
HP:0001430	Abnormality of the calf musculature	825	CAPN3	ORPHA:267
HP:0001430	Abnormality of the calf musculature	5346	PLIN1	ORPHA:280356
HP:0001430	Abnormality of the calf musculature	6576	SLC25A1	OMIM:618197
HP:0001430	Abnormality of the calf musculature	63924	CIDEC	ORPHA:435651
HP:0001430	Abnormality of the calf musculature	400916	CHCHD10	OMIM:615048
HP:0001430	Abnormality of the calf musculature	3736	KCNA1	ORPHA:37612
HP:0001430	Abnormality of the calf musculature	9215	LARGE1	OMIM:608840
HP:0001430	Abnormality of the calf musculature	9215	LARGE1	ORPHA:370968
HP:0001430	Abnormality of the calf musculature	6444	SGCD	OMIM:601287
HP:0001430	Abnormality of the calf musculature	2483	FRG1	OMIM:158900
HP:0001430	Abnormality of the calf musculature	146862	UNC45B	OMIM:619178
HP:0001430	Abnormality of the calf musculature	64208	POPDC3	OMIM:618848
HP:0001430	Abnormality of the calf musculature	80208	SPG11	OMIM:616668
HP:0001430	Abnormality of the calf musculature	55679	LIMS2	OMIM:616827
HP:0001430	Abnormality of the calf musculature	84892	POMGNT2	OMIM:618135
HP:0001430	Abnormality of the calf musculature	8557	TCAP	OMIM:601954
HP:0001430	Abnormality of the calf musculature	54344	DPM3	ORPHA:263494
HP:0001430	Abnormality of the calf musculature	51776	MAP3K20	OMIM:617760
HP:0001430	Abnormality of the calf musculature	3908	LAMA2	OMIM:618138
HP:0001430	Abnormality of the calf musculature	8449	DHX16	OMIM:618733
HP:0001430	Abnormality of the calf musculature	367	AR	OMIM:313200
HP:0001430	Abnormality of the calf musculature	4000	LMNA	ORPHA:79474
HP:0001430	Abnormality of the calf musculature	8425	LTBP4	ORPHA:98896
HP:0001430	Abnormality of the calf musculature	5376	PMP22	ORPHA:101081
HP:0001430	Abnormality of the calf musculature	9897	WASHC5	ORPHA:100989
HP:0001430	Abnormality of the calf musculature	3094	HINT1	ORPHA:324442
HP:0001430	Abnormality of the calf musculature	65055	REEP1	OMIM:614751
HP:0001430	Abnormality of the calf musculature	23230	VPS13A	ORPHA:2388
HP:0001430	Abnormality of the calf musculature	1674	DES	OMIM:181400
HP:0001430	Abnormality of the calf musculature	59341	TRPV4	OMIM:181405
HP:0001430	Abnormality of the calf musculature	26278	SACS	OMIM:270550
HP:0001430	Abnormality of the calf musculature	2273	FHL1	OMIM:300695
HP:0001433	Hepatosplenomegaly	9663	LPIN2	OMIM:609628
HP:0001433	Hepatosplenomegaly	171023	ASXL1	ORPHA:98850
HP:0001433	Hepatosplenomegaly	54790	TET2	ORPHA:98850
HP:0001433	Hepatosplenomegaly	54790	TET2	ORPHA:824
HP:0001433	Hepatosplenomegaly	54790	TET2	OMIM:619126
HP:0001433	Hepatosplenomegaly	867	CBL	ORPHA:98850
HP:0001433	Hepatosplenomegaly	867	CBL	OMIM:613563
HP:0001433	Hepatosplenomegaly	861	RUNX1	ORPHA:98850
HP:0001433	Hepatosplenomegaly	6427	SRSF2	ORPHA:98850
HP:0001433	Hepatosplenomegaly	201294	UNC13D	OMIM:608898
HP:0001433	Hepatosplenomegaly	3071	NCKAP1L	OMIM:618982
HP:0001433	Hepatosplenomegaly	10466	COG5	ORPHA:263487
HP:0001433	Hepatosplenomegaly	2632	GBE1	OMIM:232500
HP:0001433	Hepatosplenomegaly	4598	MVK	OMIM:260920
HP:0001433	Hepatosplenomegaly	4598	MVK	OMIM:610377
HP:0001433	Hepatosplenomegaly	55823	VPS11	ORPHA:466934
HP:0001433	Hepatosplenomegaly	5880	RAC2	OMIM:618986
HP:0001433	Hepatosplenomegaly	100151683	RNU4ATAC	ORPHA:353298
HP:0001433	Hepatosplenomegaly	811	CALR	ORPHA:824
HP:0001433	Hepatosplenomegaly	4352	MPL	ORPHA:824
HP:0001433	Hepatosplenomegaly	3717	JAK2	ORPHA:824
HP:0001433	Hepatosplenomegaly	857	CAV1	OMIM:612526
HP:0001433	Hepatosplenomegaly	79796	ALG9	OMIM:608776
HP:0001433	Hepatosplenomegaly	4023	LPL	OMIM:238600
HP:0001433	Hepatosplenomegaly	2629	GBA1	OMIM:608013
HP:0001433	Hepatosplenomegaly	2629	GBA1	ORPHA:2072
HP:0001433	Hepatosplenomegaly	4758	NEU1	ORPHA:93399
HP:0001433	Hepatosplenomegaly	4758	NEU1	ORPHA:93400
HP:0001433	Hepatosplenomegaly	9420	CYP7B1	ORPHA:79302
HP:0001433	Hepatosplenomegaly	4125	MAN2B1	ORPHA:309282
HP:0001433	Hepatosplenomegaly	4125	MAN2B1	ORPHA:309288
HP:0001433	Hepatosplenomegaly	55315	SLC29A3	OMIM:602782
HP:0001433	Hepatosplenomegaly	55315	SLC29A3	ORPHA:168569
HP:0001433	Hepatosplenomegaly	6888	TALDO1	ORPHA:101028
HP:0001433	Hepatosplenomegaly	6888	TALDO1	OMIM:606003
HP:0001433	Hepatosplenomegaly	6775	STAT4	ORPHA:85408
HP:0001433	Hepatosplenomegaly	3560	IL2RB	ORPHA:85408
HP:0001433	Hepatosplenomegaly	79722	ANKRD55	ORPHA:85408
HP:0001433	Hepatosplenomegaly	26191	PTPN22	ORPHA:85408
HP:0001433	Hepatosplenomegaly	919	CD247	ORPHA:85408
HP:0001433	Hepatosplenomegaly	919	CD247	ORPHA:169160
HP:0001433	Hepatosplenomegaly	3559	IL2RA	ORPHA:85408
HP:0001433	Hepatosplenomegaly	3559	IL2RA	OMIM:606367
HP:0001433	Hepatosplenomegaly	5771	PTPN2	ORPHA:85408
HP:0001433	Hepatosplenomegaly	939	CD27	OMIM:615122
HP:0001433	Hepatosplenomegaly	3074	HEXB	OMIM:268800
HP:0001433	Hepatosplenomegaly	3074	HEXB	ORPHA:309155
HP:0001433	Hepatosplenomegaly	6813	STXBP2	OMIM:613101
HP:0001433	Hepatosplenomegaly	3459	IFNGR1	OMIM:209950
HP:0001433	Hepatosplenomegaly	3716	JAK1	OMIM:618999
HP:0001433	Hepatosplenomegaly	2122	MECOM	OMIM:616738
HP:0001433	Hepatosplenomegaly	2720	GLB1	ORPHA:79255
HP:0001433	Hepatosplenomegaly	5476	CTSA	OMIM:256540
HP:0001433	Hepatosplenomegaly	57231	SNX14	ORPHA:397709
HP:0001433	Hepatosplenomegaly	9382	COG1	ORPHA:263508
HP:0001433	Hepatosplenomegaly	79158	GNPTAB	ORPHA:576
HP:0001433	Hepatosplenomegaly	427	ASAH1	ORPHA:333
HP:0001433	Hepatosplenomegaly	427	ASAH1	ORPHA:2590
HP:0001433	Hepatosplenomegaly	25839	COG4	ORPHA:263501
HP:0001433	Hepatosplenomegaly	2212	FCGR2A	OMIM:219700
HP:0001433	Hepatosplenomegaly	7040	TGFB1	OMIM:219700
HP:0001433	Hepatosplenomegaly	1080	CFTR	OMIM:219700
HP:0001433	Hepatosplenomegaly	915	CD3D	ORPHA:169160
HP:0001433	Hepatosplenomegaly	916	CD3E	ORPHA:169160
HP:0001433	Hepatosplenomegaly	65082	VPS33A	ORPHA:505248
HP:0001433	Hepatosplenomegaly	2859	GPR35	ORPHA:171
HP:0001433	Hepatosplenomegaly	10507	SEMA4D	ORPHA:171
HP:0001433	Hepatosplenomegaly	4485	MST1	ORPHA:171
HP:0001433	Hepatosplenomegaly	6925	TCF4	ORPHA:171
HP:0001433	Hepatosplenomegaly	55240	STEAP3	ORPHA:300298
HP:0001433	Hepatosplenomegaly	51218	GLRX5	OMIM:616860
HP:0001433	Hepatosplenomegaly	1777	DNASE2	OMIM:619858
HP:0001433	Hepatosplenomegaly	3988	LIPA	OMIM:278000
HP:0001433	Hepatosplenomegaly	5896	RAG1	ORPHA:331206
HP:0001433	Hepatosplenomegaly	5897	RAG2	ORPHA:331206
HP:0001433	Hepatosplenomegaly	3423	IDS	ORPHA:217085
HP:0001433	Hepatosplenomegaly	3423	IDS	ORPHA:217093
HP:0001433	Hepatosplenomegaly	3423	IDS	OMIM:309900
HP:0001433	Hepatosplenomegaly	92579	G6PC3	OMIM:612541
HP:0001433	Hepatosplenomegaly	3376	IARS1	ORPHA:541423
HP:0001433	Hepatosplenomegaly	3431	SP110	ORPHA:79124
HP:0001433	Hepatosplenomegaly	8546	AP3B1	OMIM:608233
HP:0001433	Hepatosplenomegaly	1130	LYST	ORPHA:167
HP:0001433	Hepatosplenomegaly	26154	ABCA12	OMIM:601277
HP:0001433	Hepatosplenomegaly	27031	NPHP3	OMIM:267010
HP:0001433	Hepatosplenomegaly	7289	TULP3	OMIM:619902
HP:0001433	Hepatosplenomegaly	79415	CYBC1	OMIM:618935
HP:0001433	Hepatosplenomegaly	672	BRCA1	ORPHA:1333
HP:0001433	Hepatosplenomegaly	285282	RABL3	ORPHA:1333
HP:0001433	Hepatosplenomegaly	7157	TP53	ORPHA:1333
HP:0001433	Hepatosplenomegaly	675	BRCA2	ORPHA:1333
HP:0001433	Hepatosplenomegaly	3845	KRAS	ORPHA:1333
HP:0001433	Hepatosplenomegaly	1029	CDKN2A	ORPHA:1333
HP:0001433	Hepatosplenomegaly	79728	PALB2	ORPHA:1333
HP:0001433	Hepatosplenomegaly	4089	SMAD4	ORPHA:1333
HP:0001433	Hepatosplenomegaly	23022	PALLD	ORPHA:1333
HP:0001433	Hepatosplenomegaly	10125	RASGRP1	OMIM:618534
HP:0001433	Hepatosplenomegaly	2783	GNB2	OMIM:619503
HP:0001433	Hepatosplenomegaly	3425	IDUA	OMIM:607014
HP:0001433	Hepatosplenomegaly	2584	GALK1	ORPHA:79237
HP:0001433	Hepatosplenomegaly	9051	PSTPIP1	OMIM:604416
HP:0001433	Hepatosplenomegaly	970	CD70	OMIM:618261
HP:0001433	Hepatosplenomegaly	7840	ALMS1	ORPHA:64
HP:0001433	Hepatosplenomegaly	9056	SLC7A7	ORPHA:470
HP:0001433	Hepatosplenomegaly	10312	TCIRG1	ORPHA:210110
HP:0001433	Hepatosplenomegaly	1186	CLCN7	ORPHA:210110
HP:0001433	Hepatosplenomegaly	9842	PLEKHM1	ORPHA:210110
HP:0001433	Hepatosplenomegaly	6772	STAT1	ORPHA:391487
HP:0001433	Hepatosplenomegaly	10043	TOM1	ORPHA:391487
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231214
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231222
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231226
HP:0001433	Hepatosplenomegaly	6521	SLC4A1	OMIM:611590
HP:0001433	Hepatosplenomegaly	3572	IL6ST	OMIM:619750
HP:0001433	Hepatosplenomegaly	6774	STAT3	OMIM:615952
HP:0001433	Hepatosplenomegaly	199221	DZIP1L	OMIM:617610
HP:0001433	Hepatosplenomegaly	199221	DZIP1L	ORPHA:731
HP:0001433	Hepatosplenomegaly	5580	PRKCD	OMIM:615559
HP:0001433	Hepatosplenomegaly	5828	PEX2	OMIM:614866
HP:0001433	Hepatosplenomegaly	83706	FERMT3	OMIM:612840
HP:0001433	Hepatosplenomegaly	8517	IKBKG	OMIM:301081
HP:0001433	Hepatosplenomegaly	6513	SLC2A1	ORPHA:168577
HP:0001433	Hepatosplenomegaly	65992	DDRGK1	ORPHA:93352
HP:0001433	Hepatosplenomegaly	5551	PRF1	OMIM:603553
HP:0001433	Hepatosplenomegaly	3575	IL7R	ORPHA:169154
HP:0001433	Hepatosplenomegaly	100147744	RNU7-1	OMIM:619487
HP:0001433	Hepatosplenomegaly	100147744	RNU7-1	ORPHA:51
HP:0001433	Hepatosplenomegaly	374354	NHLRC2	OMIM:618278
HP:0001433	Hepatosplenomegaly	374879	ZNF699	OMIM:619488
HP:0001433	Hepatosplenomegaly	57169	ZNFX1	OMIM:619644
HP:0001433	Hepatosplenomegaly	2263	FGFR2	OMIM:614592
HP:0001433	Hepatosplenomegaly	2263	FGFR2	ORPHA:313855
HP:0001433	Hepatosplenomegaly	5788	PTPRC	OMIM:619924
HP:0001433	Hepatosplenomegaly	51816	ADA2	OMIM:615688
HP:0001433	Hepatosplenomegaly	51473	DCDC2	ORPHA:84081
HP:0001433	Hepatosplenomegaly	91147	TMEM67	ORPHA:84081
HP:0001433	Hepatosplenomegaly	10165	SLC25A13	ORPHA:247598
HP:0001433	Hepatosplenomegaly	9371	KIF3B	OMIM:618955
HP:0001433	Hepatosplenomegaly	5294	PIK3CG	OMIM:619802
HP:0001433	Hepatosplenomegaly	2729	GCLC	ORPHA:33574
HP:0001433	Hepatosplenomegaly	7841	MOGS	ORPHA:79330
HP:0001433	Hepatosplenomegaly	388015	RTL1	ORPHA:96334
HP:0001433	Hepatosplenomegaly	8788	DLK1	ORPHA:96334
HP:0001433	Hepatosplenomegaly	55384	MEG3	ORPHA:96334
HP:0001433	Hepatosplenomegaly	6663	SOX10	OMIM:609136
HP:0001433	Hepatosplenomegaly	114548	NLRP3	OMIM:607115
HP:0001433	Hepatosplenomegaly	91949	COG7	ORPHA:79333
HP:0001433	Hepatosplenomegaly	3718	JAK3	ORPHA:35078
HP:0001433	Hepatosplenomegaly	760	CA2	OMIM:259730
HP:0001433	Hepatosplenomegaly	19	ABCA1	ORPHA:31150
HP:0001433	Hepatosplenomegaly	5314	PKHD1	ORPHA:731
HP:0001433	Hepatosplenomegaly	9968	MED12	OMIM:301068
HP:0001433	Hepatosplenomegaly	3930	LBR	OMIM:215140
HP:0001433	Hepatosplenomegaly	7030	TFE3	OMIM:301066
HP:0001433	Hepatosplenomegaly	5873	RAB27A	OMIM:607624
HP:0001433	Hepatosplenomegaly	84868	HAVCR2	ORPHA:86884
HP:0001433	Hepatosplenomegaly	2193	FARSA	OMIM:619013
HP:0001433	Hepatosplenomegaly	10661	KLF1	OMIM:613673
HP:0001433	Hepatosplenomegaly	5194	PEX13	OMIM:614885
HP:0001433	Hepatosplenomegaly	3458	IFNG	OMIM:618963
HP:0001433	Hepatosplenomegaly	84317	CCDC115	OMIM:616828
HP:0001433	Hepatosplenomegaly	10020	GNE	ORPHA:3166
HP:0001433	Hepatosplenomegaly	83737	ITCH	ORPHA:228426
HP:0001433	Hepatosplenomegaly	9939	RBM8A	OMIM:274000
HP:0001433	Hepatosplenomegaly	57410	SCYL1	ORPHA:466794
HP:0001433	Hepatosplenomegaly	8813	DPM1	ORPHA:79322
HP:0001433	Hepatosplenomegaly	84153	RNASEH2C	OMIM:610329
HP:0001433	Hepatosplenomegaly	84153	RNASEH2C	ORPHA:51
HP:0001433	Hepatosplenomegaly	28962	OSTM1	OMIM:259720
HP:0001433	Hepatosplenomegaly	1513	CTSK	ORPHA:763
HP:0001433	Hepatosplenomegaly	11133	KPTN	ORPHA:397612
HP:0001433	Hepatosplenomegaly	9742	IFT140	OMIM:266920
HP:0001433	Hepatosplenomegaly	10535	RNASEH2A	OMIM:610333
HP:0001433	Hepatosplenomegaly	10535	RNASEH2A	ORPHA:51
HP:0001433	Hepatosplenomegaly	7535	ZAP70	ORPHA:911
HP:0001433	Hepatosplenomegaly	25939	SAMHD1	ORPHA:51
HP:0001433	Hepatosplenomegaly	79621	RNASEH2B	ORPHA:51
HP:0001433	Hepatosplenomegaly	103	ADAR	ORPHA:51
HP:0001433	Hepatosplenomegaly	11277	TREX1	ORPHA:51
HP:0001433	Hepatosplenomegaly	134353	LSM11	ORPHA:51
HP:0001433	Hepatosplenomegaly	64135	IFIH1	ORPHA:51
HP:0001433	Hepatosplenomegaly	6005	RHAG	ORPHA:71275
HP:0001433	Hepatosplenomegaly	6006	RHCE	ORPHA:71275
HP:0001433	Hepatosplenomegaly	6007	RHD	ORPHA:71275
HP:0001433	Hepatosplenomegaly	8600	TNFSF11	OMIM:259710
HP:0001433	Hepatosplenomegaly	6309	SC5D	OMIM:607330
HP:0001510	Growth delay	9663	LPIN2	OMIM:609628
HP:0001510	Growth delay	81848	SPRY4	ORPHA:432
HP:0001510	Growth delay	81848	SPRY4	ORPHA:478
HP:0001510	Growth delay	60675	PROK2	ORPHA:432
HP:0001510	Growth delay	60675	PROK2	ORPHA:478
HP:0001510	Growth delay	6870	TACR3	ORPHA:432
HP:0001510	Growth delay	6870	TACR3	ORPHA:478
HP:0001510	Growth delay	1848	DUSP6	ORPHA:432
HP:0001510	Growth delay	1848	DUSP6	ORPHA:478
HP:0001510	Growth delay	26012	NSMF	ORPHA:432
HP:0001510	Growth delay	9394	HS6ST1	ORPHA:432
HP:0001510	Growth delay	9394	HS6ST1	ORPHA:478
HP:0001510	Growth delay	2796	GNRH1	ORPHA:432
HP:0001510	Growth delay	2796	GNRH1	OMIM:614841
HP:0001510	Growth delay	2798	GNRHR	ORPHA:432
HP:0001510	Growth delay	6866	TAC3	ORPHA:432
HP:0001510	Growth delay	8822	FGF17	ORPHA:432
HP:0001510	Growth delay	8822	FGF17	OMIM:615270
HP:0001510	Growth delay	8822	FGF17	ORPHA:478
HP:0001510	Growth delay	3814	KISS1	ORPHA:432
HP:0001510	Growth delay	5122	PCSK1	ORPHA:71528
HP:0001510	Growth delay	6938	TCF12	OMIM:619718
HP:0001510	Growth delay	5443	POMC	ORPHA:71526
HP:0001510	Growth delay	5447	POR	ORPHA:95699
HP:0001510	Growth delay	4312	MMP1	ORPHA:79408
HP:0001510	Growth delay	1294	COL7A1	ORPHA:79408
HP:0001510	Growth delay	1294	COL7A1	ORPHA:89842
HP:0001510	Growth delay	2099	ESR1	OMIM:615363
HP:0001510	Growth delay	4221	MEN1	ORPHA:2965
HP:0001510	Growth delay	64072	CDH23	ORPHA:2965
HP:0001510	Growth delay	64072	CDH23	ORPHA:91347
HP:0001510	Growth delay	9049	AIP	ORPHA:2965
HP:0001510	Growth delay	1363	CPE	OMIM:619326
HP:0001510	Growth delay	2592	GALT	ORPHA:79239
HP:0001510	Growth delay	7040	TGFB1	OMIM:131300
HP:0001510	Growth delay	7040	TGFB1	ORPHA:1328
HP:0001510	Growth delay	55366	LGR4	OMIM:619613
HP:0001510	Growth delay	80324	PUS1	OMIM:600462
HP:0001510	Growth delay	80324	PUS1	ORPHA:2598
HP:0001510	Growth delay	1583	CYP11A1	ORPHA:289548
HP:0001510	Growth delay	1583	CYP11A1	ORPHA:168558
HP:0001510	Growth delay	6845	VAMP7	ORPHA:251510
HP:0001510	Growth delay	4214	MAP3K1	ORPHA:251510
HP:0001510	Growth delay	58524	DMRT3	ORPHA:251510
HP:0001510	Growth delay	57647	DHX37	ORPHA:251510
HP:0001510	Growth delay	23414	ZFPM2	ORPHA:251510
HP:0001510	Growth delay	190	NR0B1	ORPHA:251510
HP:0001510	Growth delay	190	NR0B1	OMIM:300200
HP:0001510	Growth delay	374393	FAM111B	OMIM:615704
HP:0001510	Growth delay	953	ENTPD1	ORPHA:401810
HP:0001510	Growth delay	953	ENTPD1	OMIM:615683
HP:0001510	Growth delay	23767	FLRT3	OMIM:615271
HP:0001510	Growth delay	23767	FLRT3	ORPHA:478
HP:0001510	Growth delay	3043	HBB	ORPHA:231214
HP:0001510	Growth delay	3043	HBB	ORPHA:231226
HP:0001510	Growth delay	6711	SPTBN1	OMIM:619475
HP:0001510	Growth delay	493856	CISD2	ORPHA:3463
HP:0001510	Growth delay	80067	DCAF17	ORPHA:3464
HP:0001510	Growth delay	60529	ALX4	ORPHA:52022
HP:0001510	Growth delay	51317	PHF21A	ORPHA:52022
HP:0001510	Growth delay	55210	ATAD3A	ORPHA:496790
HP:0001510	Growth delay	4841	NONO	OMIM:300967
HP:0001510	Growth delay	4841	NONO	ORPHA:466791
HP:0001510	Growth delay	3972	LHB	OMIM:228300
HP:0001510	Growth delay	79983	POF1B	OMIM:300604
HP:0001510	Growth delay	59336	PRDM13	OMIM:619761
HP:0001510	Growth delay	1984	EIF5A	OMIM:619376
HP:0001510	Growth delay	4693	NDP	ORPHA:649
HP:0001510	Growth delay	51067	YARS2	ORPHA:2598
HP:0001510	Growth delay	6559	SLC12A3	OMIM:263800
HP:0001510	Growth delay	6559	SLC12A3	ORPHA:358
HP:0001510	Growth delay	367	AR	ORPHA:99429
HP:0001510	Growth delay	9325	TRIP4	ORPHA:486815
HP:0001510	Growth delay	1188	CLCNKB	ORPHA:358
HP:0001510	Growth delay	10371	SEMA3A	ORPHA:478
HP:0001510	Growth delay	79625	NDNF	ORPHA:478
HP:0001510	Growth delay	389549	FEZF1	ORPHA:478
HP:0001510	Growth delay	1630	DCC	ORPHA:478
HP:0001510	Growth delay	3730	ANOS1	ORPHA:478
HP:0001510	Growth delay	54756	IL17RD	ORPHA:478
HP:0001510	Growth delay	6663	SOX10	ORPHA:478
HP:0001510	Growth delay	285025	CCDC141	ORPHA:478
HP:0001510	Growth delay	950	SCARB2	ORPHA:77259
HP:0001510	Growth delay	3170	FOXA2	ORPHA:95494
HP:0001510	Growth delay	6555	SLC10A2	OMIM:613291
HP:0001510	Growth delay	26235	FBXL4	OMIM:615471
HP:0001510	Growth delay	51569	UFM1	OMIM:617899
HP:0001510	Growth delay	8518	ELP1	ORPHA:1764
HP:0001510	Growth delay	8518	ELP1	OMIM:223900
HP:0001510	Growth delay	8425	LTBP4	OMIM:613177
HP:0001510	Growth delay	55240	STEAP3	OMIM:615234
HP:0001510	Growth delay	55240	STEAP3	ORPHA:300298
HP:0001510	Growth delay	55823	VPS11	ORPHA:466934
HP:0001510	Growth delay	6898	TAT	OMIM:276600
HP:0001510	Growth delay	3190	HNRNPK	ORPHA:453504
HP:0001510	Growth delay	3190	HNRNPK	ORPHA:352665
HP:0001510	Growth delay	3909	LAMA3	ORPHA:79404
HP:0001510	Growth delay	3909	LAMA3	ORPHA:79402
HP:0001510	Growth delay	3918	LAMC2	ORPHA:79404
HP:0001510	Growth delay	3918	LAMC2	ORPHA:79402
HP:0001510	Growth delay	3914	LAMB3	ORPHA:79404
HP:0001510	Growth delay	3914	LAMB3	ORPHA:79402
HP:0001510	Growth delay	1308	COL17A1	ORPHA:79406
HP:0001510	Growth delay	1308	COL17A1	ORPHA:79402
HP:0001510	Growth delay	7259	TSPYL1	OMIM:608800
HP:0001510	Growth delay	7259	TSPYL1	ORPHA:168593
HP:0001510	Growth delay	3162	HMOX1	OMIM:614034
HP:0001510	Growth delay	2782	GNB1	ORPHA:488613
HP:0001510	Growth delay	2782	GNB1	OMIM:616973
HP:0001510	Growth delay	56259	CTNNBL1	OMIM:619846
HP:0001510	Growth delay	1777	DNASE2	OMIM:619858
HP:0001510	Growth delay	815	CAMK2A	OMIM:617798
HP:0001510	Growth delay	3691	ITGB4	ORPHA:79402
HP:0001510	Growth delay	1716	DGUOK	OMIM:251880
HP:0001510	Growth delay	57178	ZMIZ1	OMIM:618659
HP:0001510	Growth delay	10716	TBR1	ORPHA:1617
HP:0001510	Growth delay	8622	PDE8B	ORPHA:189439
HP:0001510	Growth delay	50940	PDE11A	ORPHA:189439
HP:0001510	Growth delay	8364	H4C3	OMIM:619758
HP:0001510	Growth delay	229	ALDOB	ORPHA:469
HP:0001510	Growth delay	8314	BAP1	OMIM:619762
HP:0001510	Growth delay	56947	MFF	ORPHA:485421
HP:0001510	Growth delay	56947	MFF	OMIM:617086
HP:0001510	Growth delay	11261	CHP1	OMIM:618438
HP:0001510	Growth delay	6901	TAFAZZIN	OMIM:302060
HP:0001510	Growth delay	3978	LIG1	OMIM:619774
HP:0001510	Growth delay	8565	YARS1	OMIM:619418
HP:0001510	Growth delay	51227	PIGP	OMIM:617599
HP:0001510	Growth delay	2184	FAH	OMIM:276700
HP:0001510	Growth delay	6528	SLC5A5	OMIM:274400
HP:0001510	Growth delay	51311	TLR8	OMIM:301078
HP:0001510	Growth delay	81704	DOCK8	OMIM:243700
HP:0001510	Growth delay	10533	ATG7	OMIM:619422
HP:0001510	Growth delay	3000	GUCY2D	OMIM:204000
HP:0001510	Growth delay	27429	HTRA2	OMIM:617248
HP:0001510	Growth delay	51013	EXOSC1	OMIM:619304
HP:0001510	Growth delay	81603	TRIM8	OMIM:619428
HP:0001510	Growth delay	9488	PIGB	OMIM:618580
HP:0001510	Growth delay	51728	POLR3K	OMIM:619310
HP:0001510	Growth delay	29887	SNX10	ORPHA:667
HP:0001510	Growth delay	8600	TNFSF11	ORPHA:667
HP:0001510	Growth delay	5308	PITX2	ORPHA:782
HP:0001510	Growth delay	2296	FOXC1	ORPHA:782
HP:0001510	Growth delay	6792	CDKL5	ORPHA:3095
HP:0001510	Growth delay	6792	CDKL5	ORPHA:505652
HP:0001510	Growth delay	22854	NTNG1	ORPHA:3095
HP:0001510	Growth delay	10978	CLP1	ORPHA:411493
HP:0001510	Growth delay	10978	CLP1	OMIM:615803
HP:0001510	Growth delay	22861	NLRP1	OMIM:617388
HP:0001510	Growth delay	6904	TBCD	ORPHA:496641
HP:0001510	Growth delay	6904	TBCD	OMIM:617193
HP:0001510	Growth delay	55967	NDUFA12	OMIM:618244
HP:0001510	Growth delay	4125	MAN2B1	OMIM:248500
HP:0001510	Growth delay	7965	AIMP2	OMIM:618006
HP:0001510	Growth delay	55750	AGK	OMIM:212350
HP:0001510	Growth delay	191	AHCY	ORPHA:88618
HP:0001510	Growth delay	5283	PIGH	OMIM:618010
HP:0001510	Growth delay	6697	SPR	OMIM:612716
HP:0001510	Growth delay	6697	SPR	ORPHA:70594
HP:0001510	Growth delay	2290	FOXG1	ORPHA:261144
HP:0001510	Growth delay	3852	KRT5	OMIM:619599
HP:0001510	Growth delay	3852	KRT5	OMIM:131760
HP:0001510	Growth delay	3852	KRT5	ORPHA:79396
HP:0001510	Growth delay	51095	TRNT1	OMIM:616084
HP:0001510	Growth delay	31	ACACA	OMIM:613933
HP:0001510	Growth delay	405753	DUOXA2	OMIM:274900
HP:0001510	Growth delay	285590	SH3PXD2B	OMIM:249420
HP:0001510	Growth delay	6472	SHMT2	OMIM:619121
HP:0001510	Growth delay	199221	DZIP1L	ORPHA:731
HP:0001510	Growth delay	5314	PKHD1	ORPHA:731
HP:0001510	Growth delay	3988	LIPA	ORPHA:75233
HP:0001510	Growth delay	3090	HIC1	ORPHA:531
HP:0001510	Growth delay	5048	PAFAH1B1	ORPHA:531
HP:0001510	Growth delay	7531	YWHAE	ORPHA:531
HP:0001510	Growth delay	81615	TMEM163	OMIM:620243
HP:0001510	Growth delay	4914	NTRK1	ORPHA:642
HP:0001510	Growth delay	389434	IYD	OMIM:274800
HP:0001510	Growth delay	50617	ATP6V0A4	OMIM:602722
HP:0001510	Growth delay	1604	CD55	OMIM:226300
HP:0001510	Growth delay	3735	KARS1	OMIM:619147
HP:0001510	Growth delay	84842	HPDL	OMIM:619026
HP:0001510	Growth delay	4702	NDUFA8	OMIM:619272
HP:0001510	Growth delay	4594	MMUT	ORPHA:289916
HP:0001510	Growth delay	158	ADSL	OMIM:103050
HP:0001510	Growth delay	3861	KRT14	OMIM:131760
HP:0001510	Growth delay	3861	KRT14	ORPHA:79396
HP:0001510	Growth delay	987	LRBA	OMIM:614700
HP:0001510	Growth delay	10667	FARS2	OMIM:614946
HP:0001510	Growth delay	2038	EPB42	ORPHA:822
HP:0001510	Growth delay	23149	FCHO1	OMIM:619164
HP:0001510	Growth delay	26153	KIF26A	OMIM:620156
HP:0001510	Growth delay	4868	NPHS1	OMIM:256300
HP:0001510	Growth delay	84992	PIGY	ORPHA:247262
HP:0001510	Growth delay	84992	PIGY	OMIM:616809
HP:0001510	Growth delay	84720	PIGO	ORPHA:247262
HP:0001510	Growth delay	84720	PIGO	OMIM:614749
HP:0001510	Growth delay	93210	PGAP3	ORPHA:247262
HP:0001510	Growth delay	93210	PGAP3	OMIM:615716
HP:0001510	Growth delay	284098	PIGW	ORPHA:247262
HP:0001510	Growth delay	55650	PIGV	ORPHA:247262
HP:0001510	Growth delay	9487	PIGL	ORPHA:247262
HP:0001510	Growth delay	92579	G6PC3	OMIM:612541
HP:0001510	Growth delay	132158	GLYCTK	OMIM:220120
HP:0001510	Growth delay	23036	ZNF292	OMIM:619188
HP:0001510	Growth delay	4338	MOCS2	OMIM:252160
HP:0001510	Growth delay	3782	KCNN3	ORPHA:3473
HP:0001510	Growth delay	5826	ABCD4	OMIM:614857
HP:0001510	Growth delay	1174	AP1S1	OMIM:609313
HP:0001510	Growth delay	1576	CYP3A4	OMIM:619073
HP:0001510	Growth delay	1727	CYB5R3	OMIM:250800
HP:0001510	Growth delay	1811	SLC26A3	OMIM:214700
HP:0001510	Growth delay	51128	SAR1B	ORPHA:71
HP:0001510	Growth delay	51128	SAR1B	OMIM:246700
HP:0001510	Growth delay	137682	NDUFAF6	ORPHA:3337
HP:0001510	Growth delay	50628	GEMIN4	OMIM:617913
HP:0001510	Growth delay	117581	TWIST2	ORPHA:920
HP:0001510	Growth delay	1828	DSG1	OMIM:615508
HP:0001510	Growth delay	51062	ATL1	ORPHA:100984
HP:0001510	Growth delay	2022	ENG	ORPHA:329971
HP:0001510	Growth delay	65062	TMEM237	OMIM:614424
HP:0001510	Growth delay	1806	DPYD	OMIM:274270
HP:0001510	Growth delay	5429	POLH	OMIM:278750
HP:0001510	Growth delay	51010	EXOSC3	OMIM:614678
HP:0001510	Growth delay	59067	IL21	OMIM:615767
HP:0001510	Growth delay	79840	NHEJ1	ORPHA:169079
HP:0001510	Growth delay	10841	FTCD	OMIM:229100
HP:0001510	Growth delay	10616	RBCK1	OMIM:615895
HP:0001510	Growth delay	3141	HLCS	ORPHA:79242
HP:0001510	Growth delay	64127	NOD2	OMIM:266600
HP:0001510	Growth delay	3569	IL6	OMIM:266600
HP:0001510	Growth delay	7067	THRA	OMIM:614450
HP:0001510	Growth delay	6785	ELOVL4	OMIM:614457
HP:0001510	Growth delay	7074	TIAM1	OMIM:619908
HP:0001510	Growth delay	11019	LIAS	OMIM:614462
HP:0001510	Growth delay	10367	MICU1	OMIM:615673
HP:0001510	Growth delay	55180	LINS1	OMIM:614340
HP:0001510	Growth delay	81689	ISCA1	OMIM:617613
HP:0001510	Growth delay	4337	MOCS1	OMIM:252150
HP:0001510	Growth delay	26503	SLC17A5	OMIM:604369
HP:0001510	Growth delay	4190	MDH1	OMIM:618959
HP:0001510	Growth delay	3587	IL10RA	OMIM:613148
HP:0001510	Growth delay	6519	SLC3A1	ORPHA:163690
HP:0001510	Growth delay	6519	SLC3A1	ORPHA:163693
HP:0001510	Growth delay	55691	FRMD4A	ORPHA:466688
HP:0001510	Growth delay	5495	PPM1B	ORPHA:163693
HP:0001510	Growth delay	79823	CAMKMT	ORPHA:163693
HP:0001510	Growth delay	1537	CYC1	OMIM:615453
HP:0001510	Growth delay	551	AVP	ORPHA:30925
HP:0001510	Growth delay	1284	COL4A2	OMIM:614483
HP:0001510	Growth delay	1807	DPYS	OMIM:222748
HP:0001510	Growth delay	1794	DOCK2	OMIM:616433
HP:0001510	Growth delay	7528	YY1	ORPHA:506358
HP:0001510	Growth delay	7528	YY1	OMIM:617557
HP:0001510	Growth delay	3651	PDX1	OMIM:260370
HP:0001510	Growth delay	3651	PDX1	ORPHA:552
HP:0001510	Growth delay	3651	PDX1	ORPHA:99885
HP:0001510	Growth delay	2218	FKTN	ORPHA:272
HP:0001510	Growth delay	25915	NDUFAF3	ORPHA:2609
HP:0001510	Growth delay	51103	NDUFAF1	ORPHA:2609
HP:0001510	Growth delay	91942	NDUFAF2	ORPHA:2609
HP:0001510	Growth delay	51300	TIMMDC1	ORPHA:2609
HP:0001510	Growth delay	4716	NDUFB10	ORPHA:2609
HP:0001510	Growth delay	4716	NDUFB10	OMIM:619003
HP:0001510	Growth delay	4723	NDUFV1	ORPHA:2609
HP:0001510	Growth delay	55572	FOXRED1	ORPHA:2609
HP:0001510	Growth delay	284184	NDUFAF8	ORPHA:2609
HP:0001510	Growth delay	284184	NDUFAF8	OMIM:618776
HP:0001510	Growth delay	55863	TMEM126B	ORPHA:2609
HP:0001510	Growth delay	4537	MT-ND3	ORPHA:2609
HP:0001510	Growth delay	4729	NDUFV2	ORPHA:2609
HP:0001510	Growth delay	4694	NDUFA1	ORPHA:2609
HP:0001510	Growth delay	4720	NDUFS2	ORPHA:2609
HP:0001510	Growth delay	4724	NDUFS4	ORPHA:2609
HP:0001510	Growth delay	4726	NDUFS6	ORPHA:2609
HP:0001510	Growth delay	4728	NDUFS8	ORPHA:2609
HP:0001510	Growth delay	4722	NDUFS3	ORPHA:2609
HP:0001510	Growth delay	79133	NDUFAF5	ORPHA:2609
HP:0001510	Growth delay	79133	NDUFAF5	OMIM:618238
HP:0001510	Growth delay	126328	NDUFA11	ORPHA:2609
HP:0001510	Growth delay	4709	NDUFB3	ORPHA:2609
HP:0001510	Growth delay	4709	NDUFB3	OMIM:618246
HP:0001510	Growth delay	80224	NUBPL	ORPHA:2609
HP:0001510	Growth delay	29078	NDUFAF4	ORPHA:2609
HP:0001510	Growth delay	29078	NDUFAF4	OMIM:618237
HP:0001510	Growth delay	374291	NDUFS7	ORPHA:2609
HP:0001510	Growth delay	4700	NDUFA6	ORPHA:2609
HP:0001510	Growth delay	4700	NDUFA6	OMIM:618253
HP:0001510	Growth delay	4536	MT-ND2	ORPHA:2609
HP:0001510	Growth delay	4719	NDUFS1	ORPHA:2609
HP:0001510	Growth delay	4715	NDUFB9	ORPHA:2609
HP:0001510	Growth delay	201595	STT3B	OMIM:615597
HP:0001510	Growth delay	201595	STT3B	ORPHA:370924
HP:0001510	Growth delay	617	BCS1L	OMIM:603358
HP:0001510	Growth delay	617	BCS1L	ORPHA:53693
HP:0001510	Growth delay	80816	ASXL3	OMIM:615485
HP:0001510	Growth delay	3508	IGHMBP2	OMIM:604320
HP:0001510	Growth delay	9692	PRORP	OMIM:619737
HP:0001510	Growth delay	5155	PDGFB	ORPHA:1980
HP:0001510	Growth delay	9213	XPR1	ORPHA:1980
HP:0001510	Growth delay	5159	PDGFRB	ORPHA:1980
HP:0001510	Growth delay	57462	MYORG	ORPHA:1980
HP:0001510	Growth delay	6575	SLC20A2	ORPHA:1980
HP:0001510	Growth delay	58494	JAM2	ORPHA:1980
HP:0001510	Growth delay	5566	PRKACA	ORPHA:289
HP:0001510	Growth delay	5567	PRKACB	ORPHA:289
HP:0001510	Growth delay	54872	PIGG	ORPHA:280
HP:0001510	Growth delay	54872	PIGG	ORPHA:488635
HP:0001510	Growth delay	54872	PIGG	OMIM:616917
HP:0001510	Growth delay	7469	NELFA	ORPHA:280
HP:0001510	Growth delay	22872	SEC31A	OMIM:618651
HP:0001510	Growth delay	54968	TMEM70	OMIM:614052
HP:0001510	Growth delay	54968	TMEM70	ORPHA:1194
HP:0001510	Growth delay	7386	UQCRFS1	OMIM:618775
HP:0001510	Growth delay	5528	PPP2R5D	OMIM:616355
HP:0001510	Growth delay	4174	MCM5	OMIM:617564
HP:0001510	Growth delay	8241	RBM10	OMIM:311900
HP:0001510	Growth delay	8241	RBM10	ORPHA:2886
HP:0001510	Growth delay	54914	FOCAD	OMIM:619991
HP:0001510	Growth delay	79991	STN1	OMIM:617341
HP:0001510	Growth delay	3800	KIF5C	OMIM:615282
HP:0001510	Growth delay	22	ABCB7	ORPHA:2802
HP:0001510	Growth delay	10463	SLC30A9	OMIM:617595
HP:0001510	Growth delay	136647	MPLKIP	ORPHA:33364
HP:0001510	Growth delay	6897	TARS1	ORPHA:33364
HP:0001510	Growth delay	79053	ALG8	ORPHA:79325
HP:0001510	Growth delay	79053	ALG8	OMIM:608104
HP:0001510	Growth delay	54101	RIPK4	OMIM:263650
HP:0001510	Growth delay	51117	COQ4	OMIM:616276
HP:0001510	Growth delay	29968	PSAT1	OMIM:616038
HP:0001510	Growth delay	29968	PSAT1	ORPHA:284417
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:552
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:99885
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:99886
HP:0001510	Growth delay	8462	KLF11	ORPHA:552
HP:0001510	Growth delay	2645	GCK	ORPHA:552
HP:0001510	Growth delay	2645	GCK	ORPHA:99885
HP:0001510	Growth delay	2645	GCK	OMIM:606176
HP:0001510	Growth delay	26060	APPL1	ORPHA:552
HP:0001510	Growth delay	640	BLK	ORPHA:552
HP:0001510	Growth delay	1056	CEL	ORPHA:552
HP:0001510	Growth delay	4760	NEUROD1	ORPHA:552
HP:0001510	Growth delay	6833	ABCC8	ORPHA:552
HP:0001510	Growth delay	6833	ABCC8	ORPHA:99885
HP:0001510	Growth delay	6833	ABCC8	ORPHA:99886
HP:0001510	Growth delay	5078	PAX4	ORPHA:552
HP:0001510	Growth delay	6927	HNF1A	ORPHA:552
HP:0001510	Growth delay	3630	INS	ORPHA:552
HP:0001510	Growth delay	3630	INS	ORPHA:99885
HP:0001510	Growth delay	3630	INS	OMIM:613370
HP:0001510	Growth delay	498	ATP5F1A	OMIM:616045
HP:0001510	Growth delay	85476	GFM1	OMIM:609060
HP:0001510	Growth delay	10102	TSFM	OMIM:610505
HP:0001510	Growth delay	2627	GATA6	OMIM:600001
HP:0001510	Growth delay	2627	GATA6	ORPHA:2255
HP:0001510	Growth delay	2627	GATA6	ORPHA:3303
HP:0001510	Growth delay	91754	NEK9	OMIM:617022
HP:0001510	Growth delay	23395	LARS2	OMIM:617021
HP:0001510	Growth delay	5649	RELN	ORPHA:89844
HP:0001510	Growth delay	10300	KATNB1	ORPHA:89844
HP:0001510	Growth delay	51163	DBR1	OMIM:619441
HP:0001510	Growth delay	346171	ZFP57	ORPHA:99886
HP:0001510	Growth delay	346171	ZFP57	OMIM:601410
HP:0001510	Growth delay	79068	FTO	OMIM:612938
HP:0001510	Growth delay	84340	GFM2	ORPHA:565624
HP:0001510	Growth delay	84340	GFM2	OMIM:618397
HP:0001510	Growth delay	63925	ZNF335	OMIM:615095
HP:0001510	Growth delay	50619	DEF6	OMIM:619573
HP:0001510	Growth delay	7019	TFAM	OMIM:617156
HP:0001510	Growth delay	4705	NDUFA10	OMIM:618243
HP:0001510	Growth delay	6045	RNF2	OMIM:619460
HP:0001510	Growth delay	84705	GTPBP3	OMIM:616198
HP:0001510	Growth delay	6304	SATB1	OMIM:619229
HP:0001510	Growth delay	4927	NUP88	ORPHA:994
HP:0001510	Growth delay	7846	TUBA1A	ORPHA:994
HP:0001510	Growth delay	4654	MYOD1	ORPHA:994
HP:0001510	Growth delay	4593	MUSK	ORPHA:994
HP:0001510	Growth delay	4593	MUSK	OMIM:208150
HP:0001510	Growth delay	5913	RAPSN	ORPHA:994
HP:0001510	Growth delay	6572	SLC18A3	ORPHA:994
HP:0001510	Growth delay	285489	DOK7	ORPHA:994
HP:0001510	Growth delay	51241	COX16	OMIM:619355
HP:0001510	Growth delay	348180	CTU2	OMIM:618142
HP:0001510	Growth delay	2222	FDFT1	OMIM:618156
HP:0001510	Growth delay	90522	YIF1B	OMIM:619125
HP:0001510	Growth delay	60558	GUF1	OMIM:617065
HP:0001510	Growth delay	374879	ZNF699	OMIM:619488
HP:0001510	Growth delay	55640	FLVCR2	OMIM:225790
HP:0001510	Growth delay	7284	TUFM	OMIM:610678
HP:0001510	Growth delay	55252	ASXL2	OMIM:617190
HP:0001510	Growth delay	342035	GLDN	OMIM:617194
HP:0001510	Growth delay	84231	TRAF7	OMIM:618164
HP:0001510	Growth delay	5297	PI4KA	ORPHA:436252
HP:0001510	Growth delay	5297	PI4KA	ORPHA:98889
HP:0001510	Growth delay	57217	TTC7A	ORPHA:436252
HP:0001510	Growth delay	57217	TTC7A	OMIM:243150
HP:0001510	Growth delay	219844	HYLS1	OMIM:236680
HP:0001510	Growth delay	4713	NDUFB7	OMIM:620135
HP:0001510	Growth delay	64858	DCLRE1B	OMIM:620133
HP:0001510	Growth delay	10134	BCAP31	OMIM:300475
HP:0001510	Growth delay	10134	BCAP31	ORPHA:369939
HP:0001510	Growth delay	137814	NKX2-6	ORPHA:3384
HP:0001510	Growth delay	137814	NKX2-6	ORPHA:3303
HP:0001510	Growth delay	23129	PLXND1	ORPHA:3384
HP:0001510	Growth delay	6309	SC5D	ORPHA:46059
HP:0001510	Growth delay	1832	DSP	ORPHA:158687
HP:0001510	Growth delay	3728	JUP	ORPHA:158687
HP:0001510	Growth delay	5393	EXOSC9	OMIM:618065
HP:0001510	Growth delay	25821	MTO1	OMIM:614702
HP:0001510	Growth delay	6341	SCO1	OMIM:619048
HP:0001510	Growth delay	87178	PNPT1	ORPHA:319514
HP:0001510	Growth delay	1340	COX6B1	OMIM:619051
HP:0001510	Growth delay	100131801	PET100	OMIM:619055
HP:0001510	Growth delay	274	BIN1	OMIM:255200
HP:0001510	Growth delay	5313	PKLR	OMIM:266200
HP:0001510	Growth delay	8802	SUCLG1	OMIM:245400
HP:0001510	Growth delay	10352	WARS2	ORPHA:572798
HP:0001510	Growth delay	10352	WARS2	OMIM:617710
HP:0001510	Growth delay	84300	UQCC2	OMIM:615824
HP:0001510	Growth delay	4524	MTHFR	ORPHA:563609
HP:0001510	Growth delay	57216	VANGL2	ORPHA:563609
HP:0001510	Growth delay	2615	LRRC32	OMIM:619074
HP:0001510	Growth delay	222546	RFX6	OMIM:615710
HP:0001510	Growth delay	2321	FLT1	ORPHA:275555
HP:0001510	Growth delay	219736	STOX1	ORPHA:275555
HP:0001510	Growth delay	10699	CORIN	ORPHA:275555
HP:0001510	Growth delay	9289	ADGRG1	ORPHA:98889
HP:0001510	Growth delay	27286	SRPX2	ORPHA:98889
HP:0001510	Growth delay	57459	GATAD2B	ORPHA:363686
HP:0001510	Growth delay	5591	PRKDC	OMIM:615966
HP:0001510	Growth delay	3911	LAMA5	OMIM:620076
HP:0001510	Growth delay	4846	NOS3	OMIM:189800
HP:0001510	Growth delay	5915	RARB	ORPHA:2470
HP:0001510	Growth delay	667	DST	OMIM:614653
HP:0001510	Growth delay	57017	COQ9	OMIM:614654
HP:0001510	Growth delay	1144	CHRND	OMIM:253290
HP:0001510	Growth delay	1134	CHRNA1	OMIM:253290
HP:0001510	Growth delay	6888	TALDO1	OMIM:606003
HP:0001510	Growth delay	56052	ALG1	OMIM:608540
HP:0001510	Growth delay	6005	RHAG	ORPHA:71275
HP:0001510	Growth delay	6006	RHCE	ORPHA:71275
HP:0001510	Growth delay	6007	RHD	ORPHA:71275
HP:0001510	Growth delay	27238	GPKOW	ORPHA:2570
HP:0001510	Growth delay	2702	GJA5	ORPHA:3303
HP:0001510	Growth delay	3791	KDR	ORPHA:3303
HP:0001510	Growth delay	2657	GDF1	ORPHA:3303
HP:0001510	Growth delay	182	JAG1	ORPHA:3303
HP:0001510	Growth delay	140628	GATA5	ORPHA:3303
HP:0001510	Growth delay	2324	FLT4	ORPHA:3303
HP:0001510	Growth delay	10370	CITED2	ORPHA:3303
HP:0001510	Growth delay	169792	GLIS3	OMIM:610199
HP:0001510	Growth delay	5053	PAH	ORPHA:2209
HP:0001510	Growth delay	23511	NUP188	OMIM:618804
HP:0001510	Growth delay	3796	KIF2A	OMIM:615411
HP:0001510	Growth delay	57211	ADGRG6	OMIM:616503
HP:0001510	Growth delay	708	C1QBP	OMIM:617713
HP:0001510	Growth delay	5160	PDHA1	ORPHA:79243
HP:0001510	Growth delay	57511	COG6	OMIM:614576
HP:0001510	Growth delay	1861	TOR1A	OMIM:618947
HP:0001510	Growth delay	3704	ITPA	OMIM:616647
HP:0001510	Growth delay	5162	PDHB	ORPHA:255138
HP:0001510	Growth delay	55278	QRSL1	OMIM:618835
HP:0001510	Growth delay	202018	TAPT1	OMIM:616897
HP:0001510	Growth delay	28957	MRPS28	OMIM:618958
HP:0001510	Growth delay	5188	GATB	OMIM:618838
HP:0001510	Growth delay	55164	SHQ1	OMIM:619922
HP:0001510	Growth delay	283459	GATC	OMIM:618839
HP:0001510	Growth delay	151188	ARL6IP6	ORPHA:1556
HP:0001510	Growth delay	57107	PDSS2	ORPHA:255249
HP:0001510	Growth delay	27235	COQ2	ORPHA:255249
HP:0001510	Growth delay	5879	RAC1	OMIM:617751
HP:0001510	Growth delay	200205	IBA57	OMIM:615330
HP:0001510	Growth delay	119559	SFXN4	OMIM:615578
HP:0001510	Growth delay	25974	MMACHC	ORPHA:79282
HP:0001510	Growth delay	51294	PCDH12	OMIM:251280
HP:0001510	Growth delay	29928	TIMM22	OMIM:618851
HP:0001510	Growth delay	35	ACADS	ORPHA:26792
HP:0001510	Growth delay	2036	EPB41L1	OMIM:614257
HP:0001510	Growth delay	6775	STAT4	ORPHA:85408
HP:0001510	Growth delay	3560	IL2RB	ORPHA:85408
HP:0001510	Growth delay	79722	ANKRD55	ORPHA:85408
HP:0001510	Growth delay	919	CD247	ORPHA:85408
HP:0001510	Growth delay	3559	IL2RA	ORPHA:85408
HP:0001510	Growth delay	5771	PTPN2	ORPHA:85408
HP:0001510	Growth delay	146059	CDAN1	OMIM:224120
HP:0001510	Growth delay	9508	ADAMTS3	ORPHA:2136
HP:0001510	Growth delay	147372	CCBE1	ORPHA:2136
HP:0001510	Growth delay	147372	CCBE1	OMIM:235510
HP:0001510	Growth delay	3483	IGFALS	OMIM:615961
HP:0001510	Growth delay	2137	EXTL3	ORPHA:508533
HP:0001510	Growth delay	2137	EXTL3	OMIM:617425
HP:0001510	Growth delay	4882	NPR2	OMIM:602875
HP:0001510	Growth delay	4882	NPR2	ORPHA:40
HP:0001510	Growth delay	1795	DOCK3	OMIM:618292
HP:0001510	Growth delay	7703	PCGF2	OMIM:618371
HP:0001510	Growth delay	50515	CHST11	OMIM:618167
HP:0001510	Growth delay	6340	SCNN1G	ORPHA:171876
HP:0001510	Growth delay	6337	SCNN1A	ORPHA:171876
HP:0001510	Growth delay	6338	SCNN1B	ORPHA:171876
HP:0001510	Growth delay	7086	TKT	OMIM:617044
HP:0001510	Growth delay	7086	TKT	ORPHA:488618
HP:0001510	Growth delay	375056	MIA3	OMIM:619269
HP:0001510	Growth delay	3033	HADH	ORPHA:71212
HP:0001510	Growth delay	1499	CTNNB1	ORPHA:54595
HP:0001510	Growth delay	2074	ERCC6	OMIM:133540
HP:0001510	Growth delay	2074	ERCC6	OMIM:278800
HP:0001510	Growth delay	51574	LARP7	OMIM:615071
HP:0001510	Growth delay	286053	NSMCE2	OMIM:617253
HP:0001510	Growth delay	1280	COL2A1	ORPHA:93316
HP:0001510	Growth delay	1280	COL2A1	OMIM:184250
HP:0001510	Growth delay	118429	ANTXR2	ORPHA:2176
HP:0001510	Growth delay	55733	HHAT	OMIM:600092
HP:0001510	Growth delay	55733	HHAT	ORPHA:1422
HP:0001510	Growth delay	23363	OBSL1	OMIM:612921
HP:0001510	Growth delay	59341	TRPV4	ORPHA:93314
HP:0001510	Growth delay	59341	TRPV4	OMIM:156530
HP:0001510	Growth delay	59341	TRPV4	OMIM:168400
HP:0001510	Growth delay	59341	TRPV4	ORPHA:2635
HP:0001510	Growth delay	64220	STRA6	OMIM:601186
HP:0001510	Growth delay	2972	BRF1	ORPHA:444072
HP:0001510	Growth delay	2317	FLNB	OMIM:112310
HP:0001510	Growth delay	3313	HSPA9	OMIM:616854
HP:0001510	Growth delay	10908	PNPLA6	OMIM:275400
HP:0001510	Growth delay	150468	CKAP2L	ORPHA:3255
HP:0001510	Growth delay	10683	DLL3	OMIM:277300
HP:0001510	Growth delay	145873	MESP2	OMIM:277300
HP:0001510	Growth delay	5476	CTSA	OMIM:256540
HP:0001510	Growth delay	51360	MBTPS2	ORPHA:2273
HP:0001510	Growth delay	51360	MBTPS2	OMIM:301014
HP:0001510	Growth delay	23250	ATP11A	OMIM:619851
HP:0001510	Growth delay	6777	STAT5B	OMIM:245590
HP:0001510	Growth delay	55037	PTCD3	OMIM:619057
HP:0001510	Growth delay	2058	EPRS1	OMIM:617951
HP:0001510	Growth delay	64131	XYLT1	OMIM:615777
HP:0001510	Growth delay	64131	XYLT1	ORPHA:1425
HP:0001510	Growth delay	92344	GORAB	OMIM:231070
HP:0001510	Growth delay	92344	GORAB	ORPHA:2078
HP:0001510	Growth delay	2200	FBN1	ORPHA:969
HP:0001510	Growth delay	2200	FBN1	OMIM:102370
HP:0001510	Growth delay	4054	LTBP3	ORPHA:969
HP:0001510	Growth delay	9719	ADAMTSL2	ORPHA:1901
HP:0001510	Growth delay	9509	ADAMTS2	ORPHA:1901
HP:0001510	Growth delay	157570	ESCO2	ORPHA:2319
HP:0001510	Growth delay	5191	PEX7	OMIM:215100
HP:0001510	Growth delay	81620	CDT1	ORPHA:2554
HP:0001510	Growth delay	5000	ORC4	ORPHA:2554
HP:0001510	Growth delay	23594	ORC6	ORPHA:2554
HP:0001510	Growth delay	8318	CDC45	ORPHA:2554
HP:0001510	Growth delay	990	CDC6	ORPHA:2554
HP:0001510	Growth delay	4998	ORC1	ORPHA:2554
HP:0001510	Growth delay	51053	GMNN	ORPHA:2554
HP:0001510	Growth delay	51053	GMNN	OMIM:616835
HP:0001510	Growth delay	3339	HSPG2	ORPHA:1865
HP:0001510	Growth delay	3339	HSPG2	OMIM:224410
HP:0001510	Growth delay	54539	NDUFB11	ORPHA:2556
HP:0001510	Growth delay	1349	COX7B	ORPHA:2556
HP:0001510	Growth delay	3052	HCCS	ORPHA:2556
HP:0001510	Growth delay	9401	RECQL4	OMIM:218600
HP:0001510	Growth delay	2688	GH1	OMIM:262400
HP:0001510	Growth delay	2688	GH1	OMIM:173100
HP:0001510	Growth delay	26175	LYSET	OMIM:619345
HP:0001510	Growth delay	1311	COMP	OMIM:132400
HP:0001510	Growth delay	51199	NIN	OMIM:614851
HP:0001510	Growth delay	6023	RMRP	OMIM:607095
HP:0001510	Growth delay	9419	CRIPT	OMIM:615789
HP:0001510	Growth delay	139285	AMER1	ORPHA:2780
HP:0001510	Growth delay	64374	SIL1	ORPHA:559
HP:0001510	Growth delay	51763	INPP5K	ORPHA:559
HP:0001510	Growth delay	6911	TBX6	OMIM:122600
HP:0001510	Growth delay	6911	TBX6	ORPHA:1797
HP:0001510	Growth delay	57167	SALL4	ORPHA:2307
HP:0001510	Growth delay	6885	MAP3K7	ORPHA:3238
HP:0001510	Growth delay	2261	FGFR3	OMIM:616482
HP:0001510	Growth delay	1857	DVL3	ORPHA:3107
HP:0001510	Growth delay	7474	WNT5A	ORPHA:3107
HP:0001510	Growth delay	1855	DVL1	ORPHA:3107
HP:0001510	Growth delay	2535	FZD2	ORPHA:3107
HP:0001510	Growth delay	9791	PTDSS1	ORPHA:2658
HP:0001510	Growth delay	80152	CENPT	OMIM:618702
HP:0001510	Growth delay	65992	DDRGK1	ORPHA:93352
HP:0001510	Growth delay	25914	RTTN	ORPHA:468631
HP:0001510	Growth delay	6595	SMARCA2	ORPHA:3051
HP:0001510	Growth delay	1718	DHCR24	ORPHA:35107
HP:0001510	Growth delay	2692	GHRHR	OMIM:618157
HP:0001510	Growth delay	2690	GHR	OMIM:262500
HP:0001510	Growth delay	2690	GHR	ORPHA:633
HP:0001510	Growth delay	5130	PCYT1A	ORPHA:85167
HP:0001510	Growth delay	2260	FGFR1	ORPHA:2645
HP:0001510	Growth delay	2260	FGFR1	OMIM:166250
HP:0001510	Growth delay	3832	KIF11	ORPHA:2526
HP:0001510	Growth delay	124583	CANT1	OMIM:251450
HP:0001510	Growth delay	124583	CANT1	ORPHA:1425
HP:0001510	Growth delay	126792	B3GALT6	OMIM:271640
HP:0001510	Growth delay	5295	PIK3R1	ORPHA:3163
HP:0001510	Growth delay	5745	PTH1R	OMIM:156400
HP:0001510	Growth delay	3423	IDS	OMIM:309900
HP:0001510	Growth delay	100151683	RNU4ATAC	ORPHA:2636
HP:0001510	Growth delay	6389	SDHA	ORPHA:3208
HP:0001510	Growth delay	6390	SDHB	ORPHA:3208
HP:0001510	Growth delay	6392	SDHD	ORPHA:3208
HP:0001510	Growth delay	644096	SDHAF1	ORPHA:3208
HP:0001510	Growth delay	6137	RPL13	OMIM:618728
HP:0001510	Growth delay	2720	GLB1	OMIM:230500
HP:0001510	Growth delay	4052	LTBP1	ORPHA:90349
HP:0001510	Growth delay	30008	EFEMP2	ORPHA:90349
HP:0001510	Growth delay	10516	FBLN5	ORPHA:90349
HP:0001510	Growth delay	55835	CENPJ	OMIM:613676
HP:0001510	Growth delay	5831	PYCR1	ORPHA:2078
HP:0001510	Growth delay	1788	DNMT3A	OMIM:618724
HP:0001510	Growth delay	1836	SLC26A2	ORPHA:93298
HP:0001510	Growth delay	63901	FAM111A	OMIM:127000
HP:0001510	Growth delay	9321	TRIP11	ORPHA:93299
HP:0001510	Growth delay	2072	ERCC4	OMIM:610965
HP:0001510	Growth delay	23522	KAT6B	ORPHA:3047
HP:0001510	Growth delay	166929	SGMS2	OMIM:126550
HP:0001510	Growth delay	26123	TCTN3	ORPHA:2753
HP:0001510	Growth delay	55790	CSGALNACT1	ORPHA:1425
HP:0001510	Growth delay	6473	SHOX	ORPHA:2632
HP:0001510	Growth delay	1749	DLX5	OMIM:220600
HP:0001510	Growth delay	3636	INPPL1	ORPHA:2746
HP:0001510	Growth delay	25871	NEPRO	OMIM:618853
HP:0001510	Growth delay	5426	POLE	OMIM:618336
HP:0001510	Growth delay	63895	PIEZO2	ORPHA:2461
HP:0001510	Growth delay	3480	IGF1R	OMIM:270450
HP:0001510	Growth delay	1278	COL1A2	ORPHA:1899
HP:0001510	Growth delay	1277	COL1A1	ORPHA:1899
HP:0001510	Growth delay	54808	DYM	ORPHA:239
HP:0001510	Growth delay	4089	SMAD4	ORPHA:2588
HP:0001510	Growth delay	153642	ARSK	OMIM:619698
HP:0001510	Growth delay	579	NKX3-2	OMIM:613330
HP:0001510	Growth delay	2588	GALNS	OMIM:253000
HP:0001510	Growth delay	168667	BMPER	OMIM:608022
HP:0001510	Growth delay	1968	EIF2S3	OMIM:300148
HP:0001510	Growth delay	55627	SMPD4	OMIM:618622
HP:0001510	Growth delay	23394	ADNP	ORPHA:404448
HP:0001510	Growth delay	23394	ADNP	OMIM:615873
HP:0001510	Growth delay	55703	POLR3B	OMIM:614381
HP:0001510	Growth delay	55703	POLR3B	OMIM:607694
HP:0001510	Growth delay	1139	CHRNA7	ORPHA:199318
HP:0001510	Growth delay	8216	LZTR1	OMIM:616564
HP:0001510	Growth delay	8216	LZTR1	ORPHA:648
HP:0001510	Growth delay	8216	LZTR1	OMIM:605275
HP:0001510	Growth delay	6228	RPS23	OMIM:617412
HP:0001510	Growth delay	215	ABCD1	ORPHA:388
HP:0001510	Growth delay	5979	RET	ORPHA:388
HP:0001510	Growth delay	2668	GDNF	ORPHA:388
HP:0001510	Growth delay	6608	SMO	ORPHA:388
HP:0001510	Growth delay	6608	SMO	OMIM:241800
HP:0001510	Growth delay	1889	ECE1	ORPHA:388
HP:0001510	Growth delay	6720	SREBF1	ORPHA:388
HP:0001510	Growth delay	1908	EDN3	ORPHA:388
HP:0001510	Growth delay	223117	SEMA3D	ORPHA:388
HP:0001510	Growth delay	538	ATP7A	ORPHA:388
HP:0001510	Growth delay	538	ATP7A	OMIM:309400
HP:0001510	Growth delay	1910	EDNRB	ORPHA:388
HP:0001510	Growth delay	10512	SEMA3C	ORPHA:388
HP:0001510	Growth delay	2064	ERBB2	ORPHA:388
HP:0001510	Growth delay	2065	ERBB3	ORPHA:388
HP:0001510	Growth delay	4902	NRTN	ORPHA:388
HP:0001510	Growth delay	3481	IGF2	ORPHA:231140
HP:0001510	Growth delay	3481	IGF2	ORPHA:231144
HP:0001510	Growth delay	3481	IGF2	OMIM:616489
HP:0001510	Growth delay	283120	H19	ORPHA:231140
HP:0001510	Growth delay	283120	H19	ORPHA:231144
HP:0001510	Growth delay	5932	RBBP8	OMIM:606744
HP:0001510	Growth delay	5932	RBBP8	ORPHA:808
HP:0001510	Growth delay	6729	SRP54	OMIM:618752
HP:0001510	Growth delay	6729	SRP54	ORPHA:811
HP:0001510	Growth delay	6729	SRP54	OMIM:260400
HP:0001510	Growth delay	166378	AFG2A	OMIM:616577
HP:0001510	Growth delay	1161	ERCC8	OMIM:216400
HP:0001510	Growth delay	5832	ALDH18A1	OMIM:616586
HP:0001510	Growth delay	5832	ALDH18A1	ORPHA:447760
HP:0001510	Growth delay	5832	ALDH18A1	OMIM:601162
HP:0001510	Growth delay	5832	ALDH18A1	OMIM:219150
HP:0001510	Growth delay	54453	RIN2	OMIM:613075
HP:0001510	Growth delay	6884	TAF13	OMIM:617432
HP:0001510	Growth delay	6884	TAF13	ORPHA:2512
HP:0001510	Growth delay	10111	RAD50	OMIM:613078
HP:0001510	Growth delay	7436	VLDLR	OMIM:224050
HP:0001510	Growth delay	7436	VLDLR	ORPHA:1766
HP:0001510	Growth delay	51109	RDH11	OMIM:616108
HP:0001510	Growth delay	51109	RDH11	ORPHA:436245
HP:0001510	Growth delay	171023	ASXL1	ORPHA:97297
HP:0001510	Growth delay	171023	ASXL1	OMIM:605039
HP:0001510	Growth delay	23312	DMXL2	OMIM:616113
HP:0001510	Growth delay	8036	SHOC2	ORPHA:2701
HP:0001510	Growth delay	8036	SHOC2	OMIM:607721
HP:0001510	Growth delay	5500	PPP1CB	ORPHA:2701
HP:0001510	Growth delay	5500	PPP1CB	OMIM:617506
HP:0001510	Growth delay	3340	NDST1	OMIM:616116
HP:0001510	Growth delay	4247	MGAT2	OMIM:212066
HP:0001510	Growth delay	54	ACP5	ORPHA:1855
HP:0001510	Growth delay	54	ACP5	OMIM:607944
HP:0001510	Growth delay	55131	RBM28	ORPHA:157954
HP:0001510	Growth delay	55131	RBM28	OMIM:612079
HP:0001510	Growth delay	79659	DYNC2H1	OMIM:613091
HP:0001510	Growth delay	79659	DYNC2H1	ORPHA:474
HP:0001510	Growth delay	11285	B4GALT7	OMIM:130070
HP:0001510	Growth delay	11285	B4GALT7	ORPHA:75496
HP:0001510	Growth delay	6772	STAT1	ORPHA:391487
HP:0001510	Growth delay	6772	STAT1	OMIM:614162
HP:0001510	Growth delay	10043	TOM1	ORPHA:391487
HP:0001510	Growth delay	8493	PPM1D	OMIM:617450
HP:0001510	Growth delay	5034	P4HB	OMIM:112240
HP:0001510	Growth delay	5034	P4HB	ORPHA:2050
HP:0001510	Growth delay	51633	OTUD6B	OMIM:617452
HP:0001510	Growth delay	51633	OTUD6B	ORPHA:505237
HP:0001510	Growth delay	9354	UBE4A	OMIM:619639
HP:0001510	Growth delay	5604	MAP2K1	OMIM:615279
HP:0001510	Growth delay	5604	MAP2K1	ORPHA:1340
HP:0001510	Growth delay	5604	MAP2K1	OMIM:163950
HP:0001510	Growth delay	2736	GLI2	OMIM:610829
HP:0001510	Growth delay	2736	GLI2	ORPHA:220386
HP:0001510	Growth delay	2736	GLI2	ORPHA:280200
HP:0001510	Growth delay	2736	GLI2	ORPHA:93926
HP:0001510	Growth delay	2736	GLI2	ORPHA:93924
HP:0001510	Growth delay	2736	GLI2	ORPHA:93925
HP:0001510	Growth delay	2736	GLI2	OMIM:615849
HP:0001510	Growth delay	79718	TBL1XR1	OMIM:602342
HP:0001510	Growth delay	5605	MAP2K2	OMIM:615280
HP:0001510	Growth delay	5605	MAP2K2	ORPHA:638
HP:0001510	Growth delay	5605	MAP2K2	ORPHA:1340
HP:0001510	Growth delay	54828	BCAS3	OMIM:619641
HP:0001510	Growth delay	113179	ADAT3	OMIM:615286
HP:0001510	Growth delay	113179	ADAT3	ORPHA:363528
HP:0001510	Growth delay	50485	SMARCAL1	ORPHA:1830
HP:0001510	Growth delay	79971	WLS	OMIM:619648
HP:0001510	Growth delay	3373	HYAL1	OMIM:601492
HP:0001510	Growth delay	3373	HYAL1	ORPHA:67041
HP:0001510	Growth delay	25836	NIPBL	OMIM:122470
HP:0001510	Growth delay	25836	NIPBL	ORPHA:199
HP:0001510	Growth delay	23499	MACF1	OMIM:618325
HP:0001510	Growth delay	4087	SMAD2	OMIM:619657
HP:0001510	Growth delay	2778	GNAS	ORPHA:79443
HP:0001510	Growth delay	2778	GNAS	ORPHA:79444
HP:0001510	Growth delay	2778	GNAS	ORPHA:79445
HP:0001510	Growth delay	2778	GNAS	OMIM:612463
HP:0001510	Growth delay	2778	GNAS	OMIM:612462
HP:0001510	Growth delay	2778	GNAS	OMIM:103580
HP:0001510	Growth delay	2778	GNAS	ORPHA:94089
HP:0001510	Growth delay	5836	PYGL	ORPHA:369
HP:0001510	Growth delay	79648	MCPH1	OMIM:251200
HP:0001510	Growth delay	79648	MCPH1	ORPHA:2512
HP:0001510	Growth delay	178	AGL	ORPHA:366
HP:0001510	Growth delay	178	AGL	OMIM:232400
HP:0001510	Growth delay	1523	CUX1	OMIM:618330
HP:0001510	Growth delay	5626	PROP1	ORPHA:90695
HP:0001510	Growth delay	5626	PROP1	OMIM:262600
HP:0001510	Growth delay	6658	SOX3	ORPHA:90695
HP:0001510	Growth delay	6658	SOX3	ORPHA:3157
HP:0001510	Growth delay	6658	SOX3	ORPHA:67045
HP:0001510	Growth delay	6658	SOX3	OMIM:300123
HP:0001510	Growth delay	7227	TRPS1	ORPHA:77258
HP:0001510	Growth delay	7227	TRPS1	OMIM:190350
HP:0001510	Growth delay	7227	TRPS1	OMIM:190351
HP:0001510	Growth delay	7227	TRPS1	ORPHA:502
HP:0001510	Growth delay	435	ASL	ORPHA:23
HP:0001510	Growth delay	64132	XYLT2	OMIM:605822
HP:0001510	Growth delay	64132	XYLT2	ORPHA:85194
HP:0001510	Growth delay	7291	TWIST1	ORPHA:794
HP:0001510	Growth delay	7291	TWIST1	OMIM:101400
HP:0001510	Growth delay	2263	FGFR2	ORPHA:794
HP:0001510	Growth delay	2263	FGFR2	OMIM:101400
HP:0001510	Growth delay	3479	IGF1	ORPHA:73272
HP:0001510	Growth delay	3479	IGF1	OMIM:608747
HP:0001510	Growth delay	57190	SELENON	ORPHA:324604
HP:0001510	Growth delay	57190	SELENON	OMIM:602771
HP:0001510	Growth delay	4625	MYH7	ORPHA:324604
HP:0001510	Growth delay	4625	MYH7	OMIM:255160
HP:0001510	Growth delay	7273	TTN	ORPHA:324604
HP:0001510	Growth delay	10785	WDR4	OMIM:618346
HP:0001510	Growth delay	10785	WDR4	OMIM:618347
HP:0001510	Growth delay	10785	WDR4	ORPHA:2065
HP:0001510	Growth delay	4598	MVK	ORPHA:29
HP:0001510	Growth delay	4598	MVK	OMIM:610377
HP:0001510	Growth delay	54517	PUS7	OMIM:618342
HP:0001510	Growth delay	8573	CASK	OMIM:300749
HP:0001510	Growth delay	89884	LHX4	OMIM:262700
HP:0001510	Growth delay	89884	LHX4	ORPHA:95496
HP:0001510	Growth delay	57122	NUP107	OMIM:618348
HP:0001510	Growth delay	57122	NUP107	ORPHA:243
HP:0001510	Growth delay	57122	NUP107	ORPHA:2065
HP:0001510	Growth delay	7681	MKRN3	OMIM:176270
HP:0001510	Growth delay	3653	IPW	OMIM:176270
HP:0001510	Growth delay	54551	MAGEL2	OMIM:176270
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:398069
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:177904
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:177901
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:177910
HP:0001510	Growth delay	54551	MAGEL2	OMIM:615547
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:98754
HP:0001510	Growth delay	791114	PWRN1	OMIM:176270
HP:0001510	Growth delay	100033413	SNORD116-1	OMIM:176270
HP:0001510	Growth delay	8924	HERC2	OMIM:176270
HP:0001510	Growth delay	145624	PWAR1	OMIM:176270
HP:0001510	Growth delay	23742	NPAP1	OMIM:176270
HP:0001510	Growth delay	338433	SNORD115-1	OMIM:176270
HP:0001510	Growth delay	27125	AFF4	ORPHA:444077
HP:0001510	Growth delay	27125	AFF4	OMIM:616368
HP:0001510	Growth delay	55630	SLC39A4	ORPHA:37
HP:0001510	Growth delay	55630	SLC39A4	OMIM:201100
HP:0001510	Growth delay	55315	SLC29A3	OMIM:602782
HP:0001510	Growth delay	55315	SLC29A3	ORPHA:168569
HP:0001510	Growth delay	55315	SLC29A3	ORPHA:1782
HP:0001510	Growth delay	10733	PLK4	OMIM:616171
HP:0001510	Growth delay	10733	PLK4	ORPHA:808
HP:0001510	Growth delay	10733	PLK4	ORPHA:2518
HP:0001510	Growth delay	4967	OGDH	ORPHA:31
HP:0001510	Growth delay	11277	TREX1	OMIM:225750
HP:0001510	Growth delay	11277	TREX1	ORPHA:51
HP:0001510	Growth delay	1297	COL9A1	ORPHA:166002
HP:0001510	Growth delay	1297	COL9A1	ORPHA:250984
HP:0001510	Growth delay	1297	COL9A1	OMIM:614134
HP:0001510	Growth delay	1298	COL9A2	ORPHA:166002
HP:0001510	Growth delay	1298	COL9A2	OMIM:614284
HP:0001510	Growth delay	1298	COL9A2	ORPHA:250984
HP:0001510	Growth delay	1299	COL9A3	ORPHA:166002
HP:0001510	Growth delay	1299	COL9A3	ORPHA:250984
HP:0001510	Growth delay	1281	COL3A1	OMIM:130050
HP:0001510	Growth delay	1281	COL3A1	ORPHA:286
HP:0001510	Growth delay	1281	COL3A1	ORPHA:2500
HP:0001510	Growth delay	427	ASAH1	ORPHA:333
HP:0001510	Growth delay	55777	MBD5	OMIM:156200
HP:0001510	Growth delay	55777	MBD5	ORPHA:228402
HP:0001510	Growth delay	254394	MCM9	OMIM:616185
HP:0001510	Growth delay	10588	MTHFS	OMIM:618367
HP:0001510	Growth delay	22930	RAB3GAP1	OMIM:600118
HP:0001510	Growth delay	22930	RAB3GAP1	OMIM:619420
HP:0001510	Growth delay	22930	RAB3GAP1	ORPHA:2510
HP:0001510	Growth delay	22930	RAB3GAP1	ORPHA:1387
HP:0001510	Growth delay	3549	IHH	ORPHA:63446
HP:0001510	Growth delay	3549	IHH	OMIM:112500
HP:0001510	Growth delay	3549	IHH	ORPHA:93388
HP:0001510	Growth delay	3549	IHH	OMIM:607778
HP:0001510	Growth delay	2334	AFF2	OMIM:309548
HP:0001510	Growth delay	2334	AFF2	ORPHA:100973
HP:0001510	Growth delay	84068	SLC10A7	OMIM:618363
HP:0001510	Growth delay	7468	NSD2	OMIM:619695
HP:0001510	Growth delay	7468	NSD2	OMIM:194190
HP:0001510	Growth delay	50945	TBX22	OMIM:302905
HP:0001510	Growth delay	50945	TBX22	ORPHA:921
HP:0001510	Growth delay	3054	HCFC1	OMIM:309541
HP:0001510	Growth delay	201163	FLCN	OMIM:610883
HP:0001510	Growth delay	2717	GLA	ORPHA:324
HP:0001510	Growth delay	2131	EXT1	ORPHA:321
HP:0001510	Growth delay	2131	EXT1	ORPHA:502
HP:0001510	Growth delay	2131	EXT1	OMIM:133700
HP:0001510	Growth delay	2132	EXT2	ORPHA:321
HP:0001510	Growth delay	2132	EXT2	OMIM:133701
HP:0001510	Growth delay	25778	DSTYK	ORPHA:101003
HP:0001510	Growth delay	3291	HSD11B2	ORPHA:320
HP:0001510	Growth delay	3291	HSD11B2	OMIM:218030
HP:0001510	Growth delay	23111	SPART	ORPHA:101000
HP:0001510	Growth delay	23111	SPART	OMIM:275900
HP:0001510	Growth delay	5611	DNAJC3	OMIM:616192
HP:0001510	Growth delay	5611	DNAJC3	ORPHA:445062
HP:0001510	Growth delay	51729	WBP11	OMIM:619227
HP:0001510	Growth delay	2697	GJA1	ORPHA:317
HP:0001510	Growth delay	2697	GJA1	OMIM:257850
HP:0001510	Growth delay	2707	GJB3	ORPHA:317
HP:0001510	Growth delay	2531	KDSR	ORPHA:317
HP:0001510	Growth delay	127534	GJB4	ORPHA:317
HP:0001510	Growth delay	8883	NAE1	OMIM:620210
HP:0001510	Growth delay	55186	SLC25A36	OMIM:620211
HP:0001510	Growth delay	4763	NF1	ORPHA:97685
HP:0001510	Growth delay	4763	NF1	OMIM:193520
HP:0001510	Growth delay	4763	NF1	OMIM:601321
HP:0001510	Growth delay	4763	NF1	ORPHA:638
HP:0001510	Growth delay	4763	NF1	ORPHA:139474
HP:0001510	Growth delay	4763	NF1	ORPHA:363700
HP:0001510	Growth delay	4763	NF1	OMIM:162200
HP:0001510	Growth delay	151516	ASPRV1	ORPHA:313
HP:0001510	Growth delay	242	ALOX12B	ORPHA:313
HP:0001510	Growth delay	242	ALOX12B	ORPHA:79394
HP:0001510	Growth delay	126410	CYP4F22	ORPHA:313
HP:0001510	Growth delay	6820	SULT2B1	ORPHA:313
HP:0001510	Growth delay	26154	ABCA12	ORPHA:313
HP:0001510	Growth delay	26154	ABCA12	ORPHA:79394
HP:0001510	Growth delay	643418	LIPN	ORPHA:313
HP:0001510	Growth delay	59344	ALOXE3	ORPHA:313
HP:0001510	Growth delay	59344	ALOXE3	ORPHA:79394
HP:0001510	Growth delay	348938	NIPAL4	ORPHA:313
HP:0001510	Growth delay	348938	NIPAL4	ORPHA:79394
HP:0001510	Growth delay	121214	SDR9C7	ORPHA:313
HP:0001510	Growth delay	7051	TGM1	ORPHA:313
HP:0001510	Growth delay	7051	TGM1	ORPHA:79394
HP:0001510	Growth delay	2316	FLNA	ORPHA:75497
HP:0001510	Growth delay	2316	FLNA	ORPHA:2301
HP:0001510	Growth delay	2316	FLNA	ORPHA:2484
HP:0001510	Growth delay	2316	FLNA	OMIM:304120
HP:0001510	Growth delay	2316	FLNA	ORPHA:88630
HP:0001510	Growth delay	2316	FLNA	OMIM:311300
HP:0001510	Growth delay	9757	KMT2B	ORPHA:589618
HP:0001510	Growth delay	9757	KMT2B	OMIM:617284
HP:0001510	Growth delay	84265	POLR3GL	OMIM:619234
HP:0001510	Growth delay	54809	SAMD9	OMIM:617053
HP:0001510	Growth delay	134218	DNAJC21	OMIM:617052
HP:0001510	Growth delay	134218	DNAJC21	ORPHA:811
HP:0001510	Growth delay	134218	DNAJC21	OMIM:260400
HP:0001510	Growth delay	29927	SEC61A1	OMIM:617056
HP:0001510	Growth delay	92002	CCNQ	OMIM:300707
HP:0001510	Growth delay	92002	CCNQ	ORPHA:140952
HP:0001510	Growth delay	1041	CDSN	OMIM:270300
HP:0001510	Growth delay	10283	CWC27	ORPHA:166035
HP:0001510	Growth delay	10283	CWC27	OMIM:250410
HP:0001510	Growth delay	8720	MBTPS1	OMIM:618392
HP:0001510	Growth delay	57477	SHROOM4	ORPHA:85288
HP:0001510	Growth delay	1289	COL5A1	OMIM:130000
HP:0001510	Growth delay	23233	EXOC6B	OMIM:618395
HP:0001510	Growth delay	23233	EXOC6B	ORPHA:93359
HP:0001510	Growth delay	8450	CUL4B	ORPHA:85293
HP:0001510	Growth delay	8450	CUL4B	OMIM:300354
HP:0001510	Growth delay	2799	GNS	OMIM:252940
HP:0001510	Growth delay	50964	SOST	OMIM:122860
HP:0001510	Growth delay	50964	SOST	ORPHA:1513
HP:0001510	Growth delay	7169	TPM2	OMIM:108120
HP:0001510	Growth delay	7169	TPM2	ORPHA:1147
HP:0001510	Growth delay	55670	PEX26	ORPHA:772
HP:0001510	Growth delay	55670	PEX26	ORPHA:44
HP:0001510	Growth delay	55670	PEX26	ORPHA:912
HP:0001510	Growth delay	5824	PEX19	ORPHA:772
HP:0001510	Growth delay	5824	PEX19	ORPHA:44
HP:0001510	Growth delay	5824	PEX19	OMIM:614886
HP:0001510	Growth delay	5824	PEX19	ORPHA:912
HP:0001510	Growth delay	5828	PEX2	ORPHA:772
HP:0001510	Growth delay	5828	PEX2	ORPHA:44
HP:0001510	Growth delay	5828	PEX2	ORPHA:912
HP:0001510	Growth delay	8504	PEX3	ORPHA:772
HP:0001510	Growth delay	8504	PEX3	ORPHA:44
HP:0001510	Growth delay	8504	PEX3	ORPHA:912
HP:0001510	Growth delay	9409	PEX16	ORPHA:772
HP:0001510	Growth delay	9409	PEX16	ORPHA:44
HP:0001510	Growth delay	9409	PEX16	ORPHA:912
HP:0001510	Growth delay	5190	PEX6	ORPHA:772
HP:0001510	Growth delay	5190	PEX6	ORPHA:3220
HP:0001510	Growth delay	5190	PEX6	ORPHA:44
HP:0001510	Growth delay	5190	PEX6	ORPHA:912
HP:0001510	Growth delay	8799	PEX11B	ORPHA:772
HP:0001510	Growth delay	8799	PEX11B	ORPHA:44
HP:0001510	Growth delay	8799	PEX11B	ORPHA:912
HP:0001510	Growth delay	5830	PEX5	ORPHA:772
HP:0001510	Growth delay	5830	PEX5	ORPHA:44
HP:0001510	Growth delay	5830	PEX5	OMIM:616716
HP:0001510	Growth delay	5830	PEX5	ORPHA:912
HP:0001510	Growth delay	5189	PEX1	ORPHA:772
HP:0001510	Growth delay	5189	PEX1	ORPHA:3220
HP:0001510	Growth delay	5189	PEX1	ORPHA:44
HP:0001510	Growth delay	5189	PEX1	ORPHA:912
HP:0001510	Growth delay	5193	PEX12	ORPHA:772
HP:0001510	Growth delay	5193	PEX12	ORPHA:44
HP:0001510	Growth delay	5193	PEX12	ORPHA:912
HP:0001510	Growth delay	5194	PEX13	ORPHA:772
HP:0001510	Growth delay	5194	PEX13	ORPHA:44
HP:0001510	Growth delay	5194	PEX13	ORPHA:912
HP:0001510	Growth delay	5195	PEX14	ORPHA:772
HP:0001510	Growth delay	5195	PEX14	ORPHA:44
HP:0001510	Growth delay	5195	PEX14	ORPHA:912
HP:0001510	Growth delay	5192	PEX10	ORPHA:772
HP:0001510	Growth delay	5192	PEX10	ORPHA:44
HP:0001510	Growth delay	5192	PEX10	ORPHA:912
HP:0001510	Growth delay	10084	PQBP1	OMIM:309500
HP:0001510	Growth delay	10084	PQBP1	ORPHA:93950
HP:0001510	Growth delay	10084	PQBP1	ORPHA:93945
HP:0001510	Growth delay	10084	PQBP1	ORPHA:93946
HP:0001510	Growth delay	10084	PQBP1	ORPHA:93947
HP:0001510	Growth delay	8242	KDM5C	ORPHA:85279
HP:0001510	Growth delay	8242	KDM5C	OMIM:300534
HP:0001510	Growth delay	5339	PLEC	OMIM:226670
HP:0001510	Growth delay	89970	RSPRY1	ORPHA:457395
HP:0001510	Growth delay	89970	RSPRY1	OMIM:616723
HP:0001510	Growth delay	51594	NBAS	OMIM:614800
HP:0001510	Growth delay	54187	NANS	OMIM:610442
HP:0001510	Growth delay	84464	SLX4	OMIM:613951
HP:0001510	Growth delay	84464	SLX4	ORPHA:84
HP:0001510	Growth delay	284058	KANSL1	OMIM:610443
HP:0001510	Growth delay	3643	INSR	ORPHA:769
HP:0001510	Growth delay	3643	INSR	OMIM:262190
HP:0001510	Growth delay	64802	NMNAT1	OMIM:619260
HP:0001510	Growth delay	51626	DYNC2LI1	OMIM:617088
HP:0001510	Growth delay	51626	DYNC2LI1	ORPHA:474
HP:0001510	Growth delay	55181	SMG8	OMIM:619268
HP:0001510	Growth delay	2693	GHSR	ORPHA:314811
HP:0001510	Growth delay	2693	GHSR	OMIM:615925
HP:0001510	Growth delay	27445	PCLO	OMIM:608027
HP:0001510	Growth delay	5696	PSMB8	OMIM:256040
HP:0001510	Growth delay	26146	TRAF3IP1	ORPHA:3156
HP:0001510	Growth delay	9657	IQCB1	ORPHA:3156
HP:0001510	Growth delay	10806	SDCCAG8	ORPHA:3156
HP:0001510	Growth delay	10806	SDCCAG8	OMIM:615993
HP:0001510	Growth delay	10806	SDCCAG8	ORPHA:110
HP:0001510	Growth delay	27130	INVS	ORPHA:3156
HP:0001510	Growth delay	80184	CEP290	ORPHA:3156
HP:0001510	Growth delay	80184	CEP290	ORPHA:110
HP:0001510	Growth delay	4867	NPHP1	ORPHA:3156
HP:0001510	Growth delay	4867	NPHP1	ORPHA:110
HP:0001510	Growth delay	261734	NPHP4	ORPHA:3156
HP:0001510	Growth delay	27031	NPHP3	ORPHA:3156
HP:0001510	Growth delay	22897	CEP164	ORPHA:3156
HP:0001510	Growth delay	128674	PROKR2	ORPHA:3157
HP:0001510	Growth delay	128674	PROKR2	ORPHA:95496
HP:0001510	Growth delay	6657	SOX2	ORPHA:3157
HP:0001510	Growth delay	6657	SOX2	OMIM:206900
HP:0001510	Growth delay	9915	ARNT2	ORPHA:3157
HP:0001510	Growth delay	9915	ARNT2	OMIM:615926
HP:0001510	Growth delay	8820	HESX1	ORPHA:3157
HP:0001510	Growth delay	8820	HESX1	ORPHA:95496
HP:0001510	Growth delay	8820	HESX1	OMIM:182230
HP:0001510	Growth delay	5015	OTX2	ORPHA:3157
HP:0001510	Growth delay	5015	OTX2	OMIM:610125
HP:0001510	Growth delay	5015	OTX2	OMIM:613986
HP:0001510	Growth delay	4053	LTBP2	OMIM:614819
HP:0001510	Growth delay	4053	LTBP2	ORPHA:3449
HP:0001510	Growth delay	374654	KIF7	ORPHA:166024
HP:0001510	Growth delay	374654	KIF7	ORPHA:2754
HP:0001510	Growth delay	128	ADH5	OMIM:619151
HP:0001510	Growth delay	6535	SLC6A8	OMIM:300352
HP:0001510	Growth delay	6535	SLC6A8	ORPHA:52503
HP:0001510	Growth delay	5885	RAD21	OMIM:614701
HP:0001510	Growth delay	5885	RAD21	ORPHA:199
HP:0001510	Growth delay	857	CAV1	OMIM:612526
HP:0001510	Growth delay	6165	RPL35A	OMIM:612528
HP:0001510	Growth delay	6165	RPL35A	ORPHA:124
HP:0001510	Growth delay	6218	RPS17	OMIM:612527
HP:0001510	Growth delay	6218	RPS17	ORPHA:124
HP:0001510	Growth delay	10093	ARPC4	OMIM:620141
HP:0001510	Growth delay	9496	TBX4	ORPHA:238578
HP:0001510	Growth delay	9496	TBX4	ORPHA:261279
HP:0001510	Growth delay	9496	TBX4	OMIM:147891
HP:0001510	Growth delay	613	BCR	ORPHA:261330
HP:0001510	Growth delay	1399	CRKL	ORPHA:261330
HP:0001510	Growth delay	5594	MAPK1	ORPHA:261330
HP:0001510	Growth delay	89910	UBE3B	OMIM:244450
HP:0001510	Growth delay	841	CASP8	OMIM:607271
HP:0001510	Growth delay	55788	LMBRD1	OMIM:277380
HP:0001510	Growth delay	224	ALDH3A2	ORPHA:816
HP:0001510	Growth delay	224	ALDH3A2	OMIM:270200
HP:0001510	Growth delay	2314	FLII	ORPHA:819
HP:0001510	Growth delay	23096	IQSEC2	ORPHA:819
HP:0001510	Growth delay	10743	RAI1	ORPHA:819
HP:0001510	Growth delay	10743	RAI1	ORPHA:1713
HP:0001510	Growth delay	10743	RAI1	OMIM:182290
HP:0001510	Growth delay	10522	DEAF1	ORPHA:819
HP:0001510	Growth delay	4758	NEU1	ORPHA:812
HP:0001510	Growth delay	4758	NEU1	OMIM:256550
HP:0001510	Growth delay	79631	EFL1	ORPHA:811
HP:0001510	Growth delay	79631	EFL1	OMIM:617941
HP:0001510	Growth delay	51119	SBDS	ORPHA:811
HP:0001510	Growth delay	51119	SBDS	OMIM:260400
HP:0001510	Growth delay	56992	KIF15	ORPHA:261323
HP:0001510	Growth delay	4001	LMNB1	OMIM:619179
HP:0001510	Growth delay	4001	LMNB1	ORPHA:2514
HP:0001510	Growth delay	1801	DPH1	OMIM:616901
HP:0001510	Growth delay	1801	DPH1	ORPHA:459061
HP:0001510	Growth delay	412	STS	ORPHA:281090
HP:0001510	Growth delay	55858	TMEM165	OMIM:614727
HP:0001510	Growth delay	80254	CEP63	OMIM:614728
HP:0001510	Growth delay	80254	CEP63	ORPHA:2512
HP:0001510	Growth delay	672	BRCA1	ORPHA:84
HP:0001510	Growth delay	672	BRCA1	OMIM:617883
HP:0001510	Growth delay	10459	MAD2L2	ORPHA:84
HP:0001510	Growth delay	10459	MAD2L2	OMIM:617243
HP:0001510	Growth delay	7516	XRCC2	ORPHA:84
HP:0001510	Growth delay	29089	UBE2T	ORPHA:84
HP:0001510	Growth delay	29089	UBE2T	OMIM:616435
HP:0001510	Growth delay	675	BRCA2	ORPHA:84
HP:0001510	Growth delay	675	BRCA2	OMIM:605724
HP:0001510	Growth delay	55120	FANCL	ORPHA:84
HP:0001510	Growth delay	2177	FANCD2	ORPHA:84
HP:0001510	Growth delay	2177	FANCD2	OMIM:227646
HP:0001510	Growth delay	2175	FANCA	ORPHA:84
HP:0001510	Growth delay	2175	FANCA	OMIM:227650
HP:0001510	Growth delay	2187	FANCB	ORPHA:84
HP:0001510	Growth delay	2176	FANCC	ORPHA:84
HP:0001510	Growth delay	2176	FANCC	OMIM:227645
HP:0001510	Growth delay	2178	FANCE	ORPHA:84
HP:0001510	Growth delay	2178	FANCE	OMIM:600901
HP:0001510	Growth delay	2188	FANCF	ORPHA:84
HP:0001510	Growth delay	2188	FANCF	OMIM:603467
HP:0001510	Growth delay	2189	FANCG	ORPHA:84
HP:0001510	Growth delay	5888	RAD51	ORPHA:84
HP:0001510	Growth delay	5889	RAD51C	ORPHA:84
HP:0001510	Growth delay	5889	RAD51C	OMIM:613390
HP:0001510	Growth delay	55159	RFWD3	ORPHA:84
HP:0001510	Growth delay	83990	BRIP1	ORPHA:84
HP:0001510	Growth delay	57697	FANCM	ORPHA:84
HP:0001510	Growth delay	79728	PALB2	ORPHA:84
HP:0001510	Growth delay	55215	FANCI	ORPHA:84
HP:0001510	Growth delay	55215	FANCI	OMIM:609053
HP:0001510	Growth delay	546	ATRX	ORPHA:847
HP:0001510	Growth delay	546	ATRX	OMIM:309580
HP:0001510	Growth delay	23116	TOGARAM1	OMIM:619185
HP:0001510	Growth delay	9184	BUB3	ORPHA:1052
HP:0001510	Growth delay	699	BUB1	ORPHA:1052
HP:0001510	Growth delay	9319	TRIP13	ORPHA:1052
HP:0001510	Growth delay	9319	TRIP13	OMIM:617598
HP:0001510	Growth delay	701	BUB1B	ORPHA:1052
HP:0001510	Growth delay	701	BUB1B	OMIM:257300
HP:0001510	Growth delay	55148	UBR7	OMIM:619189
HP:0001510	Growth delay	23545	ATP6V0A2	OMIM:278250
HP:0001510	Growth delay	23545	ATP6V0A2	ORPHA:2834
HP:0001510	Growth delay	23545	ATP6V0A2	ORPHA:357074
HP:0001510	Growth delay	25942	SIN3A	OMIM:613406
HP:0001510	Growth delay	25942	SIN3A	ORPHA:94065
HP:0001510	Growth delay	53834	FGFRL1	OMIM:194190
HP:0001510	Growth delay	1487	CTBP1	OMIM:194190
HP:0001510	Growth delay	3954	LETM1	OMIM:194190
HP:0001510	Growth delay	10815	CPLX1	OMIM:194190
HP:0001510	Growth delay	10801	SEPTIN9	OMIM:162100
HP:0001510	Growth delay	10801	SEPTIN9	ORPHA:2901
HP:0001510	Growth delay	7840	ALMS1	ORPHA:64
HP:0001510	Growth delay	7840	ALMS1	OMIM:203800
HP:0001510	Growth delay	7025	NR2F1	ORPHA:401777
HP:0001510	Growth delay	4318	MMP9	ORPHA:1040
HP:0001510	Growth delay	114548	NLRP3	OMIM:191900
HP:0001510	Growth delay	114548	NLRP3	ORPHA:575
HP:0001510	Growth delay	6201	RPS7	OMIM:612563
HP:0001510	Growth delay	6201	RPS7	ORPHA:124
HP:0001510	Growth delay	55717	WDR11	ORPHA:95496
HP:0001510	Growth delay	6091	ROBO1	ORPHA:95496
HP:0001510	Growth delay	50937	CDON	ORPHA:95496
HP:0001510	Growth delay	50937	CDON	ORPHA:220386
HP:0001510	Growth delay	50937	CDON	ORPHA:280200
HP:0001510	Growth delay	50937	CDON	ORPHA:93926
HP:0001510	Growth delay	50937	CDON	ORPHA:93924
HP:0001510	Growth delay	50937	CDON	ORPHA:93925
HP:0001510	Growth delay	23432	GPR161	ORPHA:95496
HP:0001510	Growth delay	11128	POLR3A	OMIM:264090
HP:0001510	Growth delay	11128	POLR3A	OMIM:607694
HP:0001510	Growth delay	11128	POLR3A	ORPHA:3455
HP:0001510	Growth delay	11128	POLR3A	ORPHA:447896
HP:0001510	Growth delay	8085	KMT2D	OMIM:620186
HP:0001510	Growth delay	8085	KMT2D	ORPHA:2322
HP:0001510	Growth delay	8085	KMT2D	OMIM:147920
HP:0001510	Growth delay	10907	TXNL4A	OMIM:608572
HP:0001510	Growth delay	10907	TXNL4A	ORPHA:1200
HP:0001510	Growth delay	55343	SLC35C1	OMIM:266265
HP:0001510	Growth delay	55343	SLC35C1	ORPHA:99843
HP:0001510	Growth delay	3251	HPRT1	OMIM:300322
HP:0001510	Growth delay	4256	MGP	ORPHA:85202
HP:0001510	Growth delay	23261	CAMTA1	OMIM:614756
HP:0001510	Growth delay	6605	SMARCE1	OMIM:616938
HP:0001510	Growth delay	388015	RTL1	ORPHA:96334
HP:0001510	Growth delay	388015	RTL1	ORPHA:96184
HP:0001510	Growth delay	8788	DLK1	ORPHA:96334
HP:0001510	Growth delay	8788	DLK1	ORPHA:96184
HP:0001510	Growth delay	55384	MEG3	ORPHA:96334
HP:0001510	Growth delay	55384	MEG3	ORPHA:96184
HP:0001510	Growth delay	1962	EHHADH	OMIM:615605
HP:0001510	Growth delay	695	BTK	ORPHA:47
HP:0001510	Growth delay	695	BTK	OMIM:307200
HP:0001510	Growth delay	415	ARSL	OMIM:302950
HP:0001510	Growth delay	3977	LIFR	ORPHA:3206
HP:0001510	Growth delay	3977	LIFR	OMIM:601559
HP:0001510	Growth delay	10735	STAG2	ORPHA:521258
HP:0001510	Growth delay	10735	STAG2	ORPHA:220386
HP:0001510	Growth delay	10735	STAG2	ORPHA:93925
HP:0001510	Growth delay	10735	STAG2	OMIM:301022
HP:0001510	Growth delay	6611	SMS	OMIM:309583
HP:0001510	Growth delay	6611	SMS	ORPHA:3063
HP:0001510	Growth delay	545	ATR	ORPHA:808
HP:0001510	Growth delay	1062	CENPE	ORPHA:808
HP:0001510	Growth delay	1062	CENPE	OMIM:616051
HP:0001510	Growth delay	5116	PCNT	ORPHA:808
HP:0001510	Growth delay	79902	NUP85	ORPHA:808
HP:0001510	Growth delay	79902	NUP85	OMIM:618176
HP:0001510	Growth delay	84126	ATRIP	ORPHA:808
HP:0001510	Growth delay	10293	TRAIP	ORPHA:808
HP:0001510	Growth delay	10293	TRAIP	OMIM:616777
HP:0001510	Growth delay	22995	CEP152	ORPHA:808
HP:0001510	Growth delay	22995	CEP152	OMIM:613823
HP:0001510	Growth delay	22995	CEP152	ORPHA:2512
HP:0001510	Growth delay	2961	GTF2E2	OMIM:616943
HP:0001510	Growth delay	84876	ORAI1	ORPHA:3204
HP:0001510	Growth delay	6786	STIM1	ORPHA:3204
HP:0001510	Growth delay	6786	STIM1	OMIM:185070
HP:0001510	Growth delay	6567	SLC16A2	ORPHA:59
HP:0001510	Growth delay	1186	CLCN7	ORPHA:53
HP:0001510	Growth delay	1186	CLCN7	OMIM:618541
HP:0001510	Growth delay	57724	EPG5	ORPHA:1493
HP:0001510	Growth delay	4204	MECP2	OMIM:312750
HP:0001510	Growth delay	4204	MECP2	ORPHA:1762
HP:0001510	Growth delay	4204	MECP2	ORPHA:3077
HP:0001510	Growth delay	196528	ARID2	OMIM:617808
HP:0001510	Growth delay	10535	RNASEH2A	ORPHA:51
HP:0001510	Growth delay	84153	RNASEH2C	ORPHA:51
HP:0001510	Growth delay	25939	SAMHD1	ORPHA:51
HP:0001510	Growth delay	79621	RNASEH2B	ORPHA:51
HP:0001510	Growth delay	103	ADAR	ORPHA:51
HP:0001510	Growth delay	100147744	RNU7-1	ORPHA:51
HP:0001510	Growth delay	134353	LSM11	ORPHA:51
HP:0001510	Growth delay	64135	IFIH1	ORPHA:51
HP:0001510	Growth delay	64135	IFIH1	OMIM:182250
HP:0001510	Growth delay	10075	HUWE1	OMIM:309590
HP:0001510	Growth delay	22856	CHSY1	ORPHA:363417
HP:0001510	Growth delay	26160	IFT172	OMIM:615630
HP:0001510	Growth delay	26160	IFT172	ORPHA:110
HP:0001510	Growth delay	26160	IFT172	ORPHA:474
HP:0001510	Growth delay	84529	CDIN1	OMIM:615631
HP:0001510	Growth delay	2733	GLE1	ORPHA:1486
HP:0001510	Growth delay	29123	ANKRD11	ORPHA:2332
HP:0001510	Growth delay	29123	ANKRD11	OMIM:148050
HP:0001510	Growth delay	9759	HDAC4	ORPHA:1001
HP:0001510	Growth delay	9759	HDAC4	OMIM:600430
HP:0001510	Growth delay	79650	USB1	OMIM:604173
HP:0001510	Growth delay	79650	USB1	ORPHA:1775
HP:0001510	Growth delay	4010	LMX1B	OMIM:161200
HP:0001510	Growth delay	4010	LMX1B	ORPHA:2613
HP:0001510	Growth delay	9150	CTDP1	OMIM:604168
HP:0001510	Growth delay	9150	CTDP1	ORPHA:48431
HP:0001510	Growth delay	473	RERE	OMIM:616975
HP:0001510	Growth delay	473	RERE	ORPHA:1606
HP:0001510	Growth delay	6905	TBCE	ORPHA:2323
HP:0001510	Growth delay	7403	KDM6A	ORPHA:2322
HP:0001510	Growth delay	7403	KDM6A	OMIM:300867
HP:0001510	Growth delay	7403	KDM6A	OMIM:147920
HP:0001510	Growth delay	7200	TRH	OMIM:275120
HP:0001510	Growth delay	54820	NDE1	OMIM:605013
HP:0001510	Growth delay	54820	NDE1	OMIM:614019
HP:0001510	Growth delay	9837	GINS1	OMIM:617827
HP:0001510	Growth delay	4000	LMNA	ORPHA:90153
HP:0001510	Growth delay	4000	LMNA	ORPHA:79474
HP:0001510	Growth delay	10651	MTX2	ORPHA:90153
HP:0001510	Growth delay	10651	MTX2	OMIM:619127
HP:0001510	Growth delay	10269	ZMPSTE24	ORPHA:90154
HP:0001510	Growth delay	5251	PHEX	OMIM:307800
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177904
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177901
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177910
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177907
HP:0001510	Growth delay	6638	SNRPN	ORPHA:98754
HP:0001510	Growth delay	4692	NDN	ORPHA:177904
HP:0001510	Growth delay	4692	NDN	ORPHA:177901
HP:0001510	Growth delay	4692	NDN	ORPHA:177910
HP:0001510	Growth delay	4692	NDN	ORPHA:98754
HP:0001510	Growth delay	4948	OCA2	ORPHA:177904
HP:0001510	Growth delay	4948	OCA2	ORPHA:177901
HP:0001510	Growth delay	4948	OCA2	ORPHA:98754
HP:0001510	Growth delay	1588	CYP19A1	OMIM:139300
HP:0001510	Growth delay	55906	ZC4H2	OMIM:314580
HP:0001510	Growth delay	55906	ZC4H2	OMIM:301041
HP:0001510	Growth delay	10560	SLC19A2	OMIM:249270
HP:0001510	Growth delay	10560	SLC19A2	ORPHA:49827
HP:0001510	Growth delay	2068	ERCC2	ORPHA:1466
HP:0001510	Growth delay	2068	ERCC2	ORPHA:220295
HP:0001510	Growth delay	2068	ERCC2	OMIM:601675
HP:0001510	Growth delay	2068	ERCC2	ORPHA:910
HP:0001510	Growth delay	2067	ERCC1	ORPHA:1466
HP:0001510	Growth delay	2067	ERCC1	OMIM:610758
HP:0001510	Growth delay	2073	ERCC5	ORPHA:1466
HP:0001510	Growth delay	2073	ERCC5	ORPHA:220295
HP:0001510	Growth delay	2073	ERCC5	ORPHA:910
HP:0001510	Growth delay	4358	MPV17	OMIM:256810
HP:0001510	Growth delay	134701	RIPPLY2	ORPHA:2311
HP:0001510	Growth delay	3955	LFNG	ORPHA:2311
HP:0001510	Growth delay	3955	LFNG	OMIM:609813
HP:0001510	Growth delay	84667	HES7	ORPHA:2311
HP:0001510	Growth delay	84667	HES7	OMIM:613686
HP:0001510	Growth delay	79947	DHDDS	OMIM:617836
HP:0001510	Growth delay	79947	DHDDS	ORPHA:442835
HP:0001510	Growth delay	2138	EYA1	ORPHA:2792
HP:0001510	Growth delay	5075	PAX1	ORPHA:2792
HP:0001510	Growth delay	6678	SPARC	OMIM:616507
HP:0001510	Growth delay	10804	GJB6	OMIM:129500
HP:0001510	Growth delay	197131	UBR1	ORPHA:2315
HP:0001510	Growth delay	197131	UBR1	OMIM:243800
HP:0001510	Growth delay	4982	TNFRSF11B	OMIM:239000
HP:0001510	Growth delay	4982	TNFRSF11B	ORPHA:2801
HP:0001510	Growth delay	84188	FAR1	ORPHA:438178
HP:0001510	Growth delay	4041	LRP5	ORPHA:2788
HP:0001510	Growth delay	4041	LRP5	OMIM:259770
HP:0001510	Growth delay	128637	TBC1D20	OMIM:615663
HP:0001510	Growth delay	128637	TBC1D20	ORPHA:2510
HP:0001510	Growth delay	79827	CLMP	ORPHA:2301
HP:0001510	Growth delay	26227	PHGDH	ORPHA:79351
HP:0001510	Growth delay	2313	FLI1	ORPHA:2308
HP:0001510	Growth delay	760	CA2	ORPHA:2785
HP:0001510	Growth delay	760	CA2	OMIM:259730
HP:0001510	Growth delay	9361	LONP1	ORPHA:1458
HP:0001510	Growth delay	9361	LONP1	OMIM:600373
HP:0001510	Growth delay	64840	PORCN	OMIM:305600
HP:0001510	Growth delay	131669	UROC1	OMIM:276880
HP:0001510	Growth delay	5352	PLOD2	ORPHA:2771
HP:0001510	Growth delay	5352	PLOD2	OMIM:609220
HP:0001510	Growth delay	60681	FKBP10	ORPHA:2771
HP:0001510	Growth delay	60681	FKBP10	OMIM:259450
HP:0001510	Growth delay	60681	FKBP10	OMIM:610968
HP:0001510	Growth delay	8022	LHX3	OMIM:221750
HP:0001510	Growth delay	8022	LHX3	ORPHA:231720
HP:0001510	Growth delay	284252	KCTD1	OMIM:181270
HP:0001510	Growth delay	122553	TRAPPC6B	OMIM:617862
HP:0001510	Growth delay	2893	GRIA4	OMIM:617864
HP:0001510	Growth delay	271	AMPD2	OMIM:615686
HP:0001510	Growth delay	271	AMPD2	ORPHA:401805
HP:0001510	Growth delay	4094	MAF	OMIM:601088
HP:0001510	Growth delay	4094	MAF	ORPHA:1272
HP:0001510	Growth delay	7518	XRCC4	OMIM:616541
HP:0001510	Growth delay	650	BMP2	OMIM:617877
HP:0001510	Growth delay	650	BMP2	ORPHA:261295
HP:0001510	Growth delay	51099	ABHD5	ORPHA:98907
HP:0001510	Growth delay	28514	DLL1	ORPHA:220386
HP:0001510	Growth delay	28514	DLL1	ORPHA:280200
HP:0001510	Growth delay	28514	DLL1	ORPHA:93926
HP:0001510	Growth delay	28514	DLL1	ORPHA:93924
HP:0001510	Growth delay	28514	DLL1	ORPHA:93925
HP:0001510	Growth delay	2253	FGF8	ORPHA:220386
HP:0001510	Growth delay	2253	FGF8	ORPHA:280200
HP:0001510	Growth delay	2253	FGF8	ORPHA:93926
HP:0001510	Growth delay	2253	FGF8	ORPHA:93924
HP:0001510	Growth delay	2253	FGF8	ORPHA:93925
HP:0001510	Growth delay	8243	SMC1A	ORPHA:220386
HP:0001510	Growth delay	8243	SMC1A	OMIM:300590
HP:0001510	Growth delay	8243	SMC1A	ORPHA:199
HP:0001510	Growth delay	6496	SIX3	ORPHA:220386
HP:0001510	Growth delay	6496	SIX3	ORPHA:280200
HP:0001510	Growth delay	6496	SIX3	ORPHA:93926
HP:0001510	Growth delay	6496	SIX3	ORPHA:93924
HP:0001510	Growth delay	6496	SIX3	ORPHA:93925
HP:0001510	Growth delay	7050	TGIF1	ORPHA:220386
HP:0001510	Growth delay	7050	TGIF1	ORPHA:280200
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93926
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93924
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93925
HP:0001510	Growth delay	4838	NODAL	ORPHA:220386
HP:0001510	Growth delay	4838	NODAL	ORPHA:280200
HP:0001510	Growth delay	4838	NODAL	ORPHA:93926
HP:0001510	Growth delay	4838	NODAL	ORPHA:93924
HP:0001510	Growth delay	4838	NODAL	ORPHA:93925
HP:0001510	Growth delay	6469	SHH	ORPHA:220386
HP:0001510	Growth delay	6469	SHH	ORPHA:280200
HP:0001510	Growth delay	6469	SHH	OMIM:147250
HP:0001510	Growth delay	6469	SHH	ORPHA:93926
HP:0001510	Growth delay	6469	SHH	ORPHA:93924
HP:0001510	Growth delay	6469	SHH	ORPHA:93925
HP:0001510	Growth delay	6469	SHH	ORPHA:988
HP:0001510	Growth delay	7546	ZIC2	ORPHA:220386
HP:0001510	Growth delay	7546	ZIC2	ORPHA:280200
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93926
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93924
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93925
HP:0001510	Growth delay	6491	STIL	ORPHA:220386
HP:0001510	Growth delay	6491	STIL	ORPHA:93926
HP:0001510	Growth delay	6491	STIL	ORPHA:93924
HP:0001510	Growth delay	6491	STIL	ORPHA:93925
HP:0001510	Growth delay	6491	STIL	ORPHA:2512
HP:0001510	Growth delay	2619	GAS1	ORPHA:220386
HP:0001510	Growth delay	2619	GAS1	ORPHA:280200
HP:0001510	Growth delay	2619	GAS1	ORPHA:93926
HP:0001510	Growth delay	2619	GAS1	ORPHA:93924
HP:0001510	Growth delay	2619	GAS1	ORPHA:93925
HP:0001510	Growth delay	84976	DISP1	ORPHA:220386
HP:0001510	Growth delay	84976	DISP1	ORPHA:280200
HP:0001510	Growth delay	84976	DISP1	ORPHA:93926
HP:0001510	Growth delay	84976	DISP1	ORPHA:93924
HP:0001510	Growth delay	84976	DISP1	ORPHA:93925
HP:0001510	Growth delay	8928	FOXH1	ORPHA:220386
HP:0001510	Growth delay	8928	FOXH1	ORPHA:280200
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93926
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93924
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93925
HP:0001510	Growth delay	5727	PTCH1	ORPHA:220386
HP:0001510	Growth delay	5727	PTCH1	ORPHA:280200
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93926
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93924
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93925
HP:0001510	Growth delay	57104	PNPLA2	ORPHA:98908
HP:0001510	Growth delay	57104	PNPLA2	OMIM:610717
HP:0001510	Growth delay	2806	GOT2	OMIM:618721
HP:0001510	Growth delay	84700	MYO18B	OMIM:616549
HP:0001510	Growth delay	5449	POU1F1	OMIM:613038
HP:0001510	Growth delay	4750	NEK1	ORPHA:2751
HP:0001510	Growth delay	8086	AAAS	OMIM:231550
HP:0001510	Growth delay	8086	AAAS	ORPHA:869
HP:0001510	Growth delay	10210	TOPORS	ORPHA:2754
HP:0001510	Growth delay	9851	KIAA0753	ORPHA:2754
HP:0001510	Growth delay	9851	KIAA0753	OMIM:619476
HP:0001510	Growth delay	5147	PDE6D	ORPHA:2754
HP:0001510	Growth delay	65250	CPLANE1	ORPHA:2754
HP:0001510	Growth delay	65250	CPLANE1	OMIM:277170
HP:0001510	Growth delay	51259	TMEM216	ORPHA:2754
HP:0001510	Growth delay	8481	OFD1	ORPHA:2754
HP:0001510	Growth delay	8481	OFD1	OMIM:311200
HP:0001510	Growth delay	317662	FAM149B1	ORPHA:2754
HP:0001510	Growth delay	6609	SMPD1	OMIM:607616
HP:0001510	Growth delay	6609	SMPD1	OMIM:257200
HP:0001510	Growth delay	6609	SMPD1	ORPHA:77293
HP:0001510	Growth delay	83452	RAB33B	OMIM:615222
HP:0001510	Growth delay	7471	WNT1	OMIM:615220
HP:0001510	Growth delay	9241	NOG	ORPHA:1412
HP:0001510	Growth delay	80169	CTC1	OMIM:612199
HP:0001510	Growth delay	80169	CTC1	ORPHA:1775
HP:0001510	Growth delay	8626	TP63	ORPHA:1896
HP:0001510	Growth delay	8626	TP63	OMIM:129400
HP:0001510	Growth delay	10736	SIX2	ORPHA:488437
HP:0001510	Growth delay	4281	MID1	ORPHA:2745
HP:0001510	Growth delay	529	ATP6V1E1	OMIM:617402
HP:0001510	Growth delay	529	ATP6V1E1	ORPHA:357074
HP:0001510	Growth delay	6655	SOS2	OMIM:616559
HP:0001510	Growth delay	6655	SOS2	ORPHA:648
HP:0001510	Growth delay	204219	CERS3	ORPHA:79394
HP:0001510	Growth delay	285848	PNPLA1	ORPHA:79394
HP:0001510	Growth delay	255758	DYNLT2B	OMIM:617405
HP:0001510	Growth delay	246329	STAC3	OMIM:255995
HP:0001510	Growth delay	246329	STAC3	ORPHA:168572
HP:0001510	Growth delay	3762	KCNJ5	ORPHA:37553
HP:0001510	Growth delay	3759	KCNJ2	ORPHA:37553
HP:0001510	Growth delay	3759	KCNJ2	OMIM:170390
HP:0001510	Growth delay	1497	CTNS	OMIM:219800
HP:0001510	Growth delay	10617	STAMBP	OMIM:614261
HP:0001510	Growth delay	8367	H4C5	OMIM:619950
HP:0001510	Growth delay	23417	MLYCD	OMIM:248360
HP:0001510	Growth delay	64682	ANAPC1	OMIM:618625
HP:0001510	Growth delay	64682	ANAPC1	ORPHA:221008
HP:0001510	Growth delay	4047	LSS	ORPHA:2850
HP:0001510	Growth delay	197	AHSG	ORPHA:2850
HP:0001510	Growth delay	3694	ITGB6	ORPHA:2850
HP:0001510	Growth delay	79848	CSPP1	ORPHA:397715
HP:0001510	Growth delay	9786	KIAA0586	ORPHA:397715
HP:0001510	Growth delay	1528	CYB5A	ORPHA:90796
HP:0001510	Growth delay	1586	CYP17A1	ORPHA:90796
HP:0001510	Growth delay	1028	CDKN1C	ORPHA:436144
HP:0001510	Growth delay	526	ATP6V1B2	OMIM:616455
HP:0001510	Growth delay	10730	YME1L1	OMIM:617302
HP:0001510	Growth delay	4286	MITF	OMIM:617306
HP:0001510	Growth delay	7486	WRN	OMIM:277700
HP:0001510	Growth delay	7486	WRN	ORPHA:902
HP:0001510	Growth delay	1584	CYP11B1	ORPHA:90795
HP:0001510	Growth delay	1584	CYP11B1	OMIM:202010
HP:0001510	Growth delay	51684	SUFU	ORPHA:280200
HP:0001510	Growth delay	60561	RINT1	OMIM:618641
HP:0001510	Growth delay	10584	COLEC10	OMIM:248340
HP:0001510	Growth delay	25885	POLR1A	OMIM:616462
HP:0001510	Growth delay	25885	POLR1A	ORPHA:1200
HP:0001510	Growth delay	91869	RFT1	ORPHA:244310
HP:0001510	Growth delay	91869	RFT1	OMIM:612015
HP:0001510	Growth delay	816	CAMK2B	OMIM:617799
HP:0001510	Growth delay	55699	IARS2	ORPHA:436174
HP:0001510	Growth delay	55699	IARS2	OMIM:616007
HP:0001510	Growth delay	79184	BRCC3	ORPHA:280679
HP:0001510	Growth delay	2626	GATA4	ORPHA:251071
HP:0001510	Growth delay	5354	PLP1	ORPHA:280210
HP:0001510	Growth delay	5354	PLP1	OMIM:312080
HP:0001510	Growth delay	1501	CTNND2	ORPHA:281
HP:0001510	Growth delay	9037	SEMA5A	ORPHA:281
HP:0001510	Growth delay	497661	C18orf32	OMIM:619985
HP:0001510	Growth delay	26057	ANKRD17	OMIM:619504
HP:0001510	Growth delay	3737	KCNA2	ORPHA:442835
HP:0001510	Growth delay	1759	DNM1	ORPHA:442835
HP:0001510	Growth delay	8120	AP3B2	ORPHA:442835
HP:0001510	Growth delay	523	ATP6V1A	ORPHA:442835
HP:0001510	Growth delay	523	ATP6V1A	ORPHA:357074
HP:0001510	Growth delay	10991	SLC38A3	ORPHA:442835
HP:0001510	Growth delay	51343	FZR1	ORPHA:442835
HP:0001510	Growth delay	22906	TRAK1	ORPHA:442835
HP:0001510	Growth delay	2566	GABRG2	ORPHA:442835
HP:0001510	Growth delay	1917	EEF1A2	ORPHA:442835
HP:0001510	Growth delay	2561	GABRB2	ORPHA:442835
HP:0001510	Growth delay	8831	SYNGAP1	ORPHA:442835
HP:0001510	Growth delay	7532	YWHAG	ORPHA:442835
HP:0001510	Growth delay	79876	UBA5	ORPHA:442835
HP:0001510	Growth delay	79876	UBA5	OMIM:617132
HP:0001510	Growth delay	6328	SCN3A	ORPHA:442835
HP:0001510	Growth delay	2558	GABRA5	ORPHA:442835
HP:0001510	Growth delay	781	CACNA2D1	ORPHA:442835
HP:0001510	Growth delay	2906	GRIN2D	ORPHA:442835
HP:0001510	Growth delay	116150	NUS1	ORPHA:442835
HP:0001510	Growth delay	10659	CELF2	ORPHA:442835
HP:0001510	Growth delay	774	CACNA1B	ORPHA:442835
HP:0001510	Growth delay	1213	CLTC	ORPHA:442835
HP:0001510	Growth delay	51741	WWOX	ORPHA:442835
HP:0001510	Growth delay	23334	SZT2	ORPHA:442835
HP:0001510	Growth delay	51412	ACTL6B	ORPHA:442835
HP:0001510	Growth delay	348980	HCN1	ORPHA:442835
HP:0001510	Growth delay	6506	SLC1A2	ORPHA:442835
HP:0001510	Growth delay	8867	SYNJ1	ORPHA:442835
HP:0001510	Growth delay	2258	FGF13	ORPHA:442835
HP:0001510	Growth delay	477	ATP1A2	ORPHA:442835
HP:0001510	Growth delay	3745	KCNB1	ORPHA:442835
HP:0001510	Growth delay	284111	SLC13A5	ORPHA:442835
HP:0001510	Growth delay	284111	SLC13A5	ORPHA:1946
HP:0001510	Growth delay	25977	NECAP1	ORPHA:442835
HP:0001510	Growth delay	16	AARS1	ORPHA:442835
HP:0001510	Growth delay	16	AARS1	OMIM:616339
HP:0001510	Growth delay	6334	SCN8A	ORPHA:442835
HP:0001510	Growth delay	22866	CNKSR2	ORPHA:442835
HP:0001510	Growth delay	9568	GABBR2	ORPHA:442835
HP:0001510	Growth delay	2555	GABRA2	ORPHA:442835
HP:0001510	Growth delay	55152	DALRD3	ORPHA:442835
HP:0001510	Growth delay	773	CACNA1A	ORPHA:442835
HP:0001510	Growth delay	26999	CYFIP2	ORPHA:442835
HP:0001510	Growth delay	4915	NTRK2	ORPHA:442835
HP:0001510	Growth delay	25973	PARS2	ORPHA:442835
HP:0001510	Growth delay	23097	CDK19	ORPHA:442835
HP:0001510	Growth delay	64801	ARV1	ORPHA:442835
HP:0001510	Growth delay	2257	FGF12	ORPHA:442835
HP:0001510	Growth delay	5530	PPP3CA	ORPHA:442835
HP:0001510	Growth delay	5530	PPP3CA	OMIM:618265
HP:0001510	Growth delay	5530	PPP3CA	OMIM:617711
HP:0001510	Growth delay	478	ATP1A3	ORPHA:442835
HP:0001510	Growth delay	55623	THUMPD1	OMIM:619989
HP:0001510	Growth delay	3476	IGBP1	ORPHA:52055
HP:0001510	Growth delay	3476	IGBP1	OMIM:300472
HP:0001510	Growth delay	3981	LIG4	ORPHA:235
HP:0001510	Growth delay	54888	NSUN2	ORPHA:235
HP:0001510	Growth delay	54888	NSUN2	OMIM:611091
HP:0001510	Growth delay	253738	EBF3	OMIM:617330
HP:0001510	Growth delay	56006	SMG9	OMIM:619995
HP:0001510	Growth delay	85301	COL27A1	OMIM:615155
HP:0001510	Growth delay	7862	BRPF1	OMIM:617333
HP:0001510	Growth delay	9453	GGPS1	OMIM:619518
HP:0001510	Growth delay	286	ANK1	ORPHA:251066
HP:0001510	Growth delay	554	AVPR2	ORPHA:223
HP:0001510	Growth delay	554	AVPR2	OMIM:304800
HP:0001510	Growth delay	359	AQP2	ORPHA:223
HP:0001510	Growth delay	359	AQP2	OMIM:125800
HP:0001510	Growth delay	26137	ZBTB20	OMIM:259050
HP:0001510	Growth delay	26137	ZBTB20	ORPHA:3042
HP:0001510	Growth delay	7750	ZMYM2	OMIM:619522
HP:0001510	Growth delay	8792	TNFRSF11A	ORPHA:2801
HP:0001510	Growth delay	8792	TNFRSF11A	ORPHA:1782
HP:0001510	Growth delay	57492	ARID1B	ORPHA:251056
HP:0001510	Growth delay	57492	ARID1B	OMIM:135900
HP:0001510	Growth delay	4626	MYH8	OMIM:158300
HP:0001510	Growth delay	4626	MYH8	ORPHA:3377
HP:0001510	Growth delay	3835	KIF22	OMIM:603546
HP:0001510	Growth delay	3835	KIF22	ORPHA:93360
HP:0001510	Growth delay	79989	IFT56	OMIM:619534
HP:0001510	Growth delay	9922	IQSEC1	OMIM:618687
HP:0001510	Growth delay	85365	ALG2	OMIM:607906
HP:0001510	Growth delay	4193	MDM2	OMIM:618681
HP:0001510	Growth delay	84522	JAGN1	OMIM:616022
HP:0001510	Growth delay	57479	PRR12	OMIM:619539
HP:0001510	Growth delay	79977	GRHL2	OMIM:616029
HP:0001510	Growth delay	3172	HNF4A	OMIM:616026
HP:0001510	Growth delay	79641	ROGDI	ORPHA:1946
HP:0001510	Growth delay	29893	PSMC3IP	ORPHA:243
HP:0001510	Growth delay	171568	POLR3H	ORPHA:243
HP:0001510	Growth delay	2516	NR5A1	ORPHA:243
HP:0001510	Growth delay	125150	ZSWIM7	ORPHA:243
HP:0001510	Growth delay	9210	BMP15	ORPHA:243
HP:0001510	Growth delay	23514	SPIDR	ORPHA:243
HP:0001510	Growth delay	2492	FSHR	ORPHA:243
HP:0001510	Growth delay	56945	MRPS22	ORPHA:243
HP:0001510	Growth delay	646	BNC1	ORPHA:243
HP:0001510	Growth delay	10058	ABCB6	ORPHA:241
HP:0001510	Growth delay	6261	RYR1	OMIM:619542
HP:0001510	Growth delay	8621	CDK13	OMIM:617360
HP:0001510	Growth delay	93587	TRMT10A	OMIM:616033
HP:0001510	Growth delay	6654	SOS1	OMIM:610733
HP:0001510	Growth delay	6654	SOS1	ORPHA:648
HP:0001510	Growth delay	8803	SUCLA2	ORPHA:1933
HP:0001510	Growth delay	8803	SUCLA2	OMIM:612073
HP:0001510	Growth delay	2737	GLI3	ORPHA:672
HP:0001510	Growth delay	2737	GLI3	OMIM:146510
HP:0001510	Growth delay	5076	PAX2	ORPHA:97362
HP:0001510	Growth delay	5076	PAX2	OMIM:120330
HP:0001510	Growth delay	5087	PBX1	ORPHA:97362
HP:0001510	Growth delay	10466	COG5	ORPHA:263487
HP:0001510	Growth delay	10466	COG5	OMIM:613612
HP:0001510	Growth delay	6909	TBX2	OMIM:618223
HP:0001510	Growth delay	55628	ZNF407	OMIM:619557
HP:0001510	Growth delay	58484	NLRC4	OMIM:616050
HP:0001510	Growth delay	55869	HDAC8	OMIM:300882
HP:0001510	Growth delay	55869	HDAC8	ORPHA:3459
HP:0001510	Growth delay	55869	HDAC8	ORPHA:199
HP:0001510	Growth delay	1387	CREBBP	ORPHA:353281
HP:0001510	Growth delay	1387	CREBBP	ORPHA:353277
HP:0001510	Growth delay	1387	CREBBP	OMIM:180849
HP:0001510	Growth delay	9342	SNAP29	ORPHA:66631
HP:0001510	Growth delay	79048	SECISBP2	ORPHA:171706
HP:0001510	Growth delay	79048	SECISBP2	OMIM:609698
HP:0001510	Growth delay	23314	SATB2	ORPHA:251019
HP:0001510	Growth delay	23314	SATB2	OMIM:612313
HP:0001510	Growth delay	2033	EP300	ORPHA:353284
HP:0001510	Growth delay	2033	EP300	OMIM:613684
HP:0001510	Growth delay	2033	EP300	OMIM:180849
HP:0001510	Growth delay	26128	KIFBP	ORPHA:66629
HP:0001510	Growth delay	2710	GK	OMIM:307030
HP:0001510	Growth delay	9126	SMC3	OMIM:610759
HP:0001510	Growth delay	9126	SMC3	ORPHA:199
HP:0001510	Growth delay	57551	TAOK1	OMIM:619575
HP:0001510	Growth delay	10940	POP1	OMIM:617396
HP:0001510	Growth delay	56915	EXOSC5	OMIM:619576
HP:0001510	Growth delay	8260	NAA10	OMIM:300855
HP:0001510	Growth delay	8260	NAA10	ORPHA:568
HP:0001510	Growth delay	9820	CUL7	OMIM:273750
HP:0001510	Growth delay	9820	CUL7	ORPHA:2616
HP:0001510	Growth delay	23203	PMPCA	OMIM:213200
HP:0001510	Growth delay	23203	PMPCA	ORPHA:1170
HP:0001510	Growth delay	10483	SEC23B	ORPHA:201
HP:0001510	Growth delay	5728	PTEN	ORPHA:201
HP:0001510	Growth delay	5728	PTEN	ORPHA:79076
HP:0001510	Growth delay	5728	PTEN	ORPHA:109
HP:0001510	Growth delay	6391	SDHC	ORPHA:201
HP:0001510	Growth delay	207	AKT1	ORPHA:201
HP:0001510	Growth delay	205717	USF3	ORPHA:201
HP:0001510	Growth delay	5290	PIK3CA	ORPHA:201
HP:0001510	Growth delay	100144748	KLLN	ORPHA:201
HP:0001510	Growth delay	9451	EIF2AK3	OMIM:226980
HP:0001510	Growth delay	9451	EIF2AK3	ORPHA:1667
HP:0001510	Growth delay	23384	SPECC1L	OMIM:145420
HP:0001510	Growth delay	5573	PRKAR1A	OMIM:101800
HP:0001510	Growth delay	5573	PRKAR1A	ORPHA:950
HP:0001510	Growth delay	4990	SIX6	OMIM:206900
HP:0001510	Growth delay	1300	COL10A1	OMIM:156500
HP:0001510	Growth delay	3975	LHX1	ORPHA:261265
HP:0001510	Growth delay	6928	HNF1B	ORPHA:261265
HP:0001510	Growth delay	29895	MYL11	OMIM:619110
HP:0001510	Growth delay	10847	SRCAP	OMIM:619595
HP:0001510	Growth delay	10847	SRCAP	ORPHA:2044
HP:0001510	Growth delay	10847	SRCAP	OMIM:136140
HP:0001510	Growth delay	400916	CHCHD10	ORPHA:457050
HP:0001510	Growth delay	400916	CHCHD10	OMIM:616209
HP:0001510	Growth delay	6513	SLC2A1	ORPHA:168577
HP:0001510	Growth delay	6513	SLC2A1	OMIM:608885
HP:0001510	Growth delay	79809	TTC21B	OMIM:613819
HP:0001510	Growth delay	79809	TTC21B	ORPHA:474
HP:0001510	Growth delay	22983	MAST1	OMIM:618273
HP:0001510	Growth delay	55755	CDK5RAP2	OMIM:604804
HP:0001510	Growth delay	55755	CDK5RAP2	ORPHA:2512
HP:0001510	Growth delay	28956	LAMTOR2	OMIM:610798
HP:0001510	Growth delay	28956	LAMTOR2	ORPHA:90023
HP:0001510	Growth delay	118924	FRA10AC1	OMIM:620113
HP:0001510	Growth delay	4148	MATN3	OMIM:607078
HP:0001510	Growth delay	4148	MATN3	ORPHA:156728
HP:0001510	Growth delay	9895	TECPR2	ORPHA:320385
HP:0001510	Growth delay	9895	TECPR2	OMIM:615031
HP:0001510	Growth delay	3739	KCNA4	OMIM:618284
HP:0001510	Growth delay	23259	DDHD2	ORPHA:320380
HP:0001510	Growth delay	23259	DDHD2	OMIM:615033
HP:0001510	Growth delay	22800	RRAS2	ORPHA:648
HP:0001510	Growth delay	867	CBL	ORPHA:648
HP:0001510	Growth delay	867	CBL	OMIM:613563
HP:0001510	Growth delay	6016	RIT1	ORPHA:648
HP:0001510	Growth delay	6016	RIT1	OMIM:615355
HP:0001510	Growth delay	6237	RRAS	ORPHA:648
HP:0001510	Growth delay	5894	RAF1	ORPHA:648
HP:0001510	Growth delay	5894	RAF1	OMIM:611554
HP:0001510	Growth delay	5894	RAF1	OMIM:611553
HP:0001510	Growth delay	5894	RAF1	ORPHA:500
HP:0001510	Growth delay	22808	MRAS	ORPHA:648
HP:0001510	Growth delay	22808	MRAS	OMIM:618499
HP:0001510	Growth delay	3845	KRAS	ORPHA:648
HP:0001510	Growth delay	3845	KRAS	OMIM:163200
HP:0001510	Growth delay	3845	KRAS	ORPHA:1340
HP:0001510	Growth delay	3845	KRAS	OMIM:609942
HP:0001510	Growth delay	200734	SPRED2	ORPHA:648
HP:0001510	Growth delay	200734	SPRED2	OMIM:619745
HP:0001510	Growth delay	4893	NRAS	ORPHA:648
HP:0001510	Growth delay	4893	NRAS	OMIM:163200
HP:0001510	Growth delay	4893	NRAS	OMIM:613224
HP:0001510	Growth delay	5781	PTPN11	ORPHA:648
HP:0001510	Growth delay	5781	PTPN11	ORPHA:500
HP:0001510	Growth delay	5781	PTPN11	OMIM:151100
HP:0001510	Growth delay	5781	PTPN11	OMIM:163950
HP:0001510	Growth delay	5922	RASA2	ORPHA:648
HP:0001510	Growth delay	4683	NBN	ORPHA:647
HP:0001510	Growth delay	4683	NBN	OMIM:251260
HP:0001510	Growth delay	4508	MT-ATP6	ORPHA:644
HP:0001510	Growth delay	5257	PHKB	OMIM:261750
HP:0001510	Growth delay	5257	PHKB	ORPHA:79240
HP:0001510	Growth delay	8665	EIF3F	OMIM:618295
HP:0001510	Growth delay	9652	SKIC3	ORPHA:84064
HP:0001510	Growth delay	9652	SKIC3	OMIM:222470
HP:0001510	Growth delay	6499	SKIC2	ORPHA:84064
HP:0001510	Growth delay	8517	IKBKG	OMIM:308300
HP:0001510	Growth delay	8517	IKBKG	ORPHA:464
HP:0001510	Growth delay	121340	SP7	OMIM:613849
HP:0001510	Growth delay	11005	SPINK5	ORPHA:634
HP:0001510	Growth delay	7337	UBE3A	ORPHA:238446
HP:0001510	Growth delay	4621	MYH3	ORPHA:2053
HP:0001510	Growth delay	4621	MYH3	ORPHA:1147
HP:0001510	Growth delay	4621	MYH3	ORPHA:2990
HP:0001510	Growth delay	4621	MYH3	OMIM:618436
HP:0001510	Growth delay	4621	MYH3	OMIM:178110
HP:0001510	Growth delay	259232	NALCN	ORPHA:2053
HP:0001510	Growth delay	259232	NALCN	ORPHA:1147
HP:0001510	Growth delay	259232	NALCN	ORPHA:371364
HP:0001510	Growth delay	10262	SF3B4	OMIM:154400
HP:0001510	Growth delay	9871	SEC24D	ORPHA:2050
HP:0001510	Growth delay	9871	SEC24D	OMIM:616294
HP:0001510	Growth delay	23019	CNOT1	OMIM:619033
HP:0001510	Growth delay	7109	TRAPPC10	OMIM:620027
HP:0001510	Growth delay	7109	TRAPPC10	ORPHA:2512
HP:0001510	Growth delay	10274	STAG1	ORPHA:502434
HP:0001510	Growth delay	1119	CHKA	OMIM:620023
HP:0001510	Growth delay	8496	PPFIBP1	OMIM:620024
HP:0001510	Growth delay	5111	PCNA	OMIM:615919
HP:0001510	Growth delay	5111	PCNA	ORPHA:438134
HP:0001510	Growth delay	2617	GARS1	OMIM:619042
HP:0001510	Growth delay	170302	ARX	OMIM:300004
HP:0001510	Growth delay	170302	ARX	ORPHA:2508
HP:0001510	Growth delay	162	AP1B1	OMIM:242150
HP:0001510	Growth delay	1184	CLCN5	OMIM:300009
HP:0001510	Growth delay	1184	CLCN5	OMIM:300554
HP:0001510	Growth delay	1184	CLCN5	OMIM:308990
HP:0001510	Growth delay	23431	AP4E1	OMIM:613744
HP:0001510	Growth delay	23431	AP4E1	ORPHA:280763
HP:0001510	Growth delay	25782	RAB3GAP2	OMIM:212720
HP:0001510	Growth delay	25782	RAB3GAP2	ORPHA:2510
HP:0001510	Growth delay	25782	RAB3GAP2	ORPHA:1387
HP:0001510	Growth delay	5744	PTHLH	ORPHA:93387
HP:0001510	Growth delay	5744	PTHLH	OMIM:613382
HP:0001510	Growth delay	658	BMPR1B	ORPHA:93384
HP:0001510	Growth delay	658	BMPR1B	ORPHA:93388
HP:0001510	Growth delay	658	BMPR1B	ORPHA:2639
HP:0001510	Growth delay	10472	ZBTB18	ORPHA:36367
HP:0001510	Growth delay	10472	ZBTB18	OMIM:612337
HP:0001510	Growth delay	7298	TYMS	OMIM:620040
HP:0001510	Growth delay	7298	TYMS	ORPHA:1775
HP:0001510	Growth delay	51204	TACO1	OMIM:619052
HP:0001510	Growth delay	28958	COA3	OMIM:619058
HP:0001510	Growth delay	8647	ABCB11	OMIM:601847
HP:0001510	Growth delay	1351	COX8A	OMIM:619059
HP:0001510	Growth delay	9739	SETD1A	OMIM:619056
HP:0001510	Growth delay	340024	SLC6A19	OMIM:234500
HP:0001510	Growth delay	340024	SLC6A19	ORPHA:2116
HP:0001510	Growth delay	3117	HLA-DQA1	OMIM:212750
HP:0001510	Growth delay	3119	HLA-DQB1	OMIM:212750
HP:0001510	Growth delay	8289	ARID1A	OMIM:614607
HP:0001510	Growth delay	7080	NKX2-1	ORPHA:209905
HP:0001510	Growth delay	7080	NKX2-1	ORPHA:95713
HP:0001510	Growth delay	6598	SMARCB1	OMIM:614608
HP:0001510	Growth delay	6597	SMARCA4	OMIM:614609
HP:0001510	Growth delay	1327	COX4I1	OMIM:619060
HP:0001510	Growth delay	54476	RNF216	ORPHA:1173
HP:0001510	Growth delay	4212	MEIS2	OMIM:600987
HP:0001510	Growth delay	4212	MEIS2	ORPHA:261190
HP:0001510	Growth delay	26053	AUTS2	ORPHA:352490
HP:0001510	Growth delay	26053	AUTS2	OMIM:615834
HP:0001510	Growth delay	4697	NDUFA4	OMIM:619065
HP:0001510	Growth delay	4591	TRIM37	OMIM:253250
HP:0001510	Growth delay	4591	TRIM37	ORPHA:2576
HP:0001510	Growth delay	1302	COL11A2	ORPHA:2021
HP:0001510	Growth delay	1302	COL11A2	OMIM:215150
HP:0001510	Growth delay	657	BMPR1A	ORPHA:79076
HP:0001510	Growth delay	10382	TUBB4A	OMIM:612438
HP:0001510	Growth delay	55154	MSTO1	ORPHA:502423
HP:0001510	Growth delay	55154	MSTO1	OMIM:617675
HP:0001510	Growth delay	3265	HRAS	OMIM:218040
HP:0001510	Growth delay	3265	HRAS	OMIM:163200
HP:0001510	Growth delay	3265	HRAS	ORPHA:3071
HP:0001510	Growth delay	6197	RPS6KA3	ORPHA:276630
HP:0001510	Growth delay	6197	RPS6KA3	OMIM:303600
HP:0001510	Growth delay	6197	RPS6KA3	ORPHA:192
HP:0001510	Growth delay	2629	GBA1	OMIM:231000
HP:0001510	Growth delay	2335	FN1	OMIM:184255
HP:0001510	Growth delay	2335	FN1	ORPHA:93315
HP:0001510	Growth delay	1802	DPH2	OMIM:620062
HP:0001510	Growth delay	6521	SLC4A1	OMIM:611590
HP:0001510	Growth delay	6774	STAT3	OMIM:615952
HP:0001510	Growth delay	55027	HEATR3	OMIM:620072
HP:0001510	Growth delay	51611	DPH5	OMIM:620070
HP:0001510	Growth delay	8905	AP1S2	ORPHA:85329
HP:0001510	Growth delay	79813	EHMT1	ORPHA:261652
HP:0001510	Growth delay	58508	KMT2C	ORPHA:261652
HP:0001510	Growth delay	25970	SH2B1	ORPHA:329249
HP:0001510	Growth delay	8838	CCN6	ORPHA:1159
HP:0001510	Growth delay	84919	PPP1R15B	OMIM:616817
HP:0001510	Growth delay	6231	RPS26	OMIM:613309
HP:0001510	Growth delay	6231	RPS26	ORPHA:124
HP:0001510	Growth delay	51085	MLXIPL	OMIM:194050
HP:0001510	Growth delay	51085	MLXIPL	ORPHA:904
HP:0001510	Growth delay	2006	ELN	OMIM:194050
HP:0001510	Growth delay	2006	ELN	ORPHA:904
HP:0001510	Growth delay	3178	HNRNPA1	ORPHA:52430
HP:0001510	Growth delay	7415	VCP	ORPHA:52430
HP:0001510	Growth delay	3181	HNRNPA2B1	ORPHA:52430
HP:0001510	Growth delay	3187	HNRNPH1	OMIM:620083
HP:0001510	Growth delay	4920	ROR2	OMIM:268310
HP:0001510	Growth delay	22880	MORC2	OMIM:619090
HP:0001510	Growth delay	50484	RRM2B	OMIM:268315
HP:0001510	Growth delay	7140	TNNT3	ORPHA:1147
HP:0001510	Growth delay	7136	TNNI2	ORPHA:1147
HP:0001510	Growth delay	7136	TNNI2	OMIM:601680
HP:0001510	Growth delay	5167	ENPP1	OMIM:613312
HP:0001510	Growth delay	5167	ENPP1	ORPHA:289176
HP:0001510	Growth delay	5167	ENPP1	OMIM:208000
HP:0001510	Growth delay	8195	MKKS	ORPHA:2473
HP:0001510	Growth delay	8195	MKKS	ORPHA:110
HP:0001510	Growth delay	51750	RTEL1	ORPHA:3322
HP:0001510	Growth delay	51750	RTEL1	ORPHA:1775
HP:0001510	Growth delay	65057	ACD	ORPHA:3322
HP:0001510	Growth delay	5073	PARN	ORPHA:3322
HP:0001510	Growth delay	5073	PARN	ORPHA:1775
HP:0001510	Growth delay	7015	TERT	ORPHA:3322
HP:0001510	Growth delay	7015	TERT	OMIM:613989
HP:0001510	Growth delay	7015	TERT	ORPHA:1775
HP:0001510	Growth delay	26277	TINF2	ORPHA:3322
HP:0001510	Growth delay	26277	TINF2	OMIM:613990
HP:0001510	Growth delay	26277	TINF2	ORPHA:1775
HP:0001510	Growth delay	1736	DKC1	ORPHA:3322
HP:0001510	Growth delay	1736	DKC1	OMIM:305000
HP:0001510	Growth delay	1736	DKC1	ORPHA:1775
HP:0001510	Growth delay	9775	EIF4A3	OMIM:268305
HP:0001510	Growth delay	29072	SETD2	OMIM:616831
HP:0001510	Growth delay	51025	PAM16	OMIM:613320
HP:0001510	Growth delay	3897	L1CAM	ORPHA:2466
HP:0001510	Growth delay	3897	L1CAM	OMIM:303350
HP:0001510	Growth delay	4352	MPL	ORPHA:3319
HP:0001510	Growth delay	7066	THPO	ORPHA:3319
HP:0001510	Growth delay	84695	LOXL3	ORPHA:250984
HP:0001510	Growth delay	10664	CTCF	OMIM:615502
HP:0001510	Growth delay	6307	MSMO1	OMIM:616834
HP:0001510	Growth delay	55112	DYNC2I1	OMIM:615503
HP:0001510	Growth delay	55112	DYNC2I1	ORPHA:474
HP:0001510	Growth delay	9780	PIEZO1	OMIM:616843
HP:0001510	Growth delay	22845	DOLK	ORPHA:91131
HP:0001510	Growth delay	411	ARSB	OMIM:253200
HP:0001510	Growth delay	10525	HYOU1	OMIM:233600
HP:0001510	Growth delay	55784	MCTP2	ORPHA:1596
HP:0001510	Growth delay	26224	FBXL3	OMIM:606220
HP:0001510	Growth delay	11253	MAN1B1	OMIM:614202
HP:0001510	Growth delay	5925	RB1	ORPHA:1587
HP:0001510	Growth delay	27315	PGAP2	OMIM:614207
HP:0001510	Growth delay	83987	CCDC8	OMIM:614205
HP:0001510	Growth delay	83987	CCDC8	ORPHA:2616
HP:0001510	Growth delay	64093	SMOC1	ORPHA:1106
HP:0001510	Growth delay	80185	TTI2	OMIM:615541
HP:0001510	Growth delay	80185	TTI2	ORPHA:391307
HP:0001510	Growth delay	3758	KCNJ1	OMIM:241200
HP:0001510	Growth delay	547	KIF1A	OMIM:614213
HP:0001510	Growth delay	1001	CDH3	ORPHA:1573
HP:0001510	Growth delay	3418	IDH2	ORPHA:163634
HP:0001510	Growth delay	3417	IDH1	ORPHA:163634
HP:0001510	Growth delay	3417	IDH1	ORPHA:99646
HP:0001510	Growth delay	55644	OSGEP	OMIM:617729
HP:0001510	Growth delay	55644	OSGEP	ORPHA:2065
HP:0001510	Growth delay	112858	TP53RK	OMIM:617730
HP:0001510	Growth delay	112858	TP53RK	ORPHA:2065
HP:0001510	Growth delay	54361	WNT4	ORPHA:247768
HP:0001510	Growth delay	83737	ITCH	OMIM:613385
HP:0001510	Growth delay	4780	NFE2L2	OMIM:617744
HP:0001510	Growth delay	6569	SLC34A1	OMIM:613388
HP:0001510	Growth delay	6569	SLC34A1	ORPHA:157215
HP:0001510	Growth delay	2071	ERCC3	ORPHA:220295
HP:0001510	Growth delay	2071	ERCC3	OMIM:616390
HP:0001510	Growth delay	2071	ERCC3	OMIM:610651
HP:0001510	Growth delay	2071	ERCC3	ORPHA:910
HP:0001510	Growth delay	9215	LARGE1	OMIM:608840
HP:0001510	Growth delay	3756	KCNH1	ORPHA:420561
HP:0001510	Growth delay	10717	AP4B1	ORPHA:280763
HP:0001510	Growth delay	10717	AP4B1	OMIM:614066
HP:0001510	Growth delay	9179	AP4M1	ORPHA:280763
HP:0001510	Growth delay	11154	AP4S1	ORPHA:280763
HP:0001510	Growth delay	11154	AP4S1	OMIM:614067
HP:0001510	Growth delay	2186	BPTF	OMIM:617755
HP:0001510	Growth delay	2990	GUSB	OMIM:253220
HP:0001510	Growth delay	23404	EXOSC2	OMIM:617763
HP:0001510	Growth delay	55331	ACER3	OMIM:617762
HP:0001510	Growth delay	92935	MARS2	OMIM:616430
HP:0001510	Growth delay	7043	TGFB3	OMIM:615582
HP:0001510	Growth delay	22827	PUF60	OMIM:615583
HP:0001510	Growth delay	22827	PUF60	ORPHA:508498
HP:0001510	Growth delay	22827	PUF60	ORPHA:508488
HP:0001510	Growth delay	8074	FGF23	OMIM:193100
HP:0001510	Growth delay	5238	PGM3	ORPHA:443811
HP:0001510	Growth delay	4897	NRCAM	OMIM:619833
HP:0001510	Growth delay	91147	TMEM67	OMIM:602152
HP:0001510	Growth delay	6662	SOX9	ORPHA:140
HP:0001510	Growth delay	23498	HAAO	OMIM:617660
HP:0001510	Growth delay	9578	CDC42BPB	OMIM:619841
HP:0001510	Growth delay	64412	GZF1	OMIM:617662
HP:0001510	Growth delay	1841	DTYMK	OMIM:619847
HP:0001510	Growth delay	3149	HMGB3	OMIM:300915
HP:0001510	Growth delay	3716	JAK1	OMIM:618999
HP:0001510	Growth delay	57082	KNL1	OMIM:604321
HP:0001510	Growth delay	57082	KNL1	ORPHA:2512
HP:0001510	Growth delay	55636	CHD7	ORPHA:138
HP:0001510	Growth delay	9723	SEMA3E	ORPHA:138
HP:0001510	Growth delay	29957	SLC25A24	ORPHA:2963
HP:0001510	Growth delay	29957	SLC25A24	ORPHA:2095
HP:0001510	Growth delay	29957	SLC25A24	OMIM:612289
HP:0001510	Growth delay	818	CAMK2G	OMIM:618522
HP:0001510	Growth delay	10606	PAICS	OMIM:619859
HP:0001510	Growth delay	64359	NXN	OMIM:618529
HP:0001510	Growth delay	9968	MED12	ORPHA:93932
HP:0001510	Growth delay	9968	MED12	OMIM:305450
HP:0001510	Growth delay	9968	MED12	OMIM:301068
HP:0001510	Growth delay	7994	KAT6A	ORPHA:457193
HP:0001510	Growth delay	5139	PDE3A	OMIM:112410
HP:0001510	Growth delay	5139	PDE3A	ORPHA:1276
HP:0001510	Growth delay	10484	SEC23A	OMIM:607812
HP:0001510	Growth delay	10484	SEC23A	ORPHA:50814
HP:0001510	Growth delay	8550	MAPKAPK5	OMIM:619869
HP:0001510	Growth delay	23007	PLCH1	ORPHA:93925
HP:0001510	Growth delay	4645	MYO5B	OMIM:619868
HP:0001510	Growth delay	81794	ADAMTS10	OMIM:277600
HP:0001510	Growth delay	81794	ADAMTS10	ORPHA:3449
HP:0001510	Growth delay	92482	BBIP1	ORPHA:110
HP:0001510	Growth delay	11020	IFT27	ORPHA:110
HP:0001510	Growth delay	582	BBS1	ORPHA:110
HP:0001510	Growth delay	49855	SCAPER	ORPHA:110
HP:0001510	Growth delay	51057	WDPCP	ORPHA:110
HP:0001510	Growth delay	27241	BBS9	ORPHA:110
HP:0001510	Growth delay	84984	CEP19	ORPHA:110
HP:0001510	Growth delay	22954	TRIM32	ORPHA:110
HP:0001510	Growth delay	54903	MKS1	ORPHA:110
HP:0001510	Growth delay	79738	BBS10	ORPHA:110
HP:0001510	Growth delay	123016	TTC8	ORPHA:110
HP:0001510	Growth delay	583	BBS2	ORPHA:110
HP:0001510	Growth delay	585	BBS4	ORPHA:110
HP:0001510	Growth delay	54585	LZTFL1	ORPHA:110
HP:0001510	Growth delay	55212	BBS7	ORPHA:110
HP:0001510	Growth delay	166379	BBS12	ORPHA:110
HP:0001510	Growth delay	157657	CFAP418	ORPHA:110
HP:0001510	Growth delay	84100	ARL6	ORPHA:110
HP:0001510	Growth delay	129880	BBS5	ORPHA:110
HP:0001510	Growth delay	80173	IFT74	ORPHA:110
HP:0001510	Growth delay	402381	SOHLH1	OMIM:617690
HP:0001510	Growth delay	3590	IL11RA	OMIM:614188
HP:0001510	Growth delay	23126	POGZ	OMIM:616364
HP:0001510	Growth delay	23126	POGZ	ORPHA:468678
HP:0001510	Growth delay	55773	TBC1D23	OMIM:617695
HP:0001510	Growth delay	1594	CYP27B1	ORPHA:289157
HP:0001510	Growth delay	120227	CYP2R1	ORPHA:289157
HP:0001510	Growth delay	8558	CDK10	OMIM:617694
HP:0001510	Growth delay	3098	HK1	OMIM:618547
HP:0001510	Growth delay	5590	PRKCZ	ORPHA:1606
HP:0001510	Growth delay	2563	GABRD	ORPHA:1606
HP:0001510	Growth delay	23013	SPEN	ORPHA:1606
HP:0001510	Growth delay	8510	MMP23B	ORPHA:1606
HP:0001510	Growth delay	7798	LUZP1	ORPHA:1606
HP:0001510	Growth delay	6497	SKI	ORPHA:1606
HP:0001510	Growth delay	10630	PDPN	ORPHA:1606
HP:0001510	Growth delay	10277	UBE4B	ORPHA:1606
HP:0001510	Growth delay	8514	KCNAB2	ORPHA:1606
HP:0001510	Growth delay	63976	PRDM16	ORPHA:1606
HP:0001510	Growth delay	54897	CASZ1	ORPHA:1606
HP:0001510	Growth delay	285362	SUMF1	ORPHA:585
HP:0001510	Growth delay	285362	SUMF1	OMIM:272200
HP:0001510	Growth delay	472	ATM	ORPHA:100
HP:0001510	Growth delay	472	ATM	OMIM:208900
HP:0001510	Growth delay	79633	FAT4	ORPHA:314679
HP:0001510	Growth delay	8642	DCHS1	ORPHA:314679
HP:0001510	Growth delay	1758	DMP1	ORPHA:289176
HP:0001510	Growth delay	57679	ALS2	OMIM:205100
HP:0001510	Growth delay	84295	PHF6	ORPHA:127
HP:0001510	Growth delay	84295	PHF6	OMIM:301900
HP:0001510	Growth delay	6135	RPL11	ORPHA:124
HP:0001510	Growth delay	6138	RPL15	ORPHA:124
HP:0001510	Growth delay	6229	RPS24	ORPHA:124
HP:0001510	Growth delay	6125	RPL5	ORPHA:124
HP:0001510	Growth delay	6204	RPS10	ORPHA:124
HP:0001510	Growth delay	6224	RPS20	ORPHA:124
HP:0001510	Growth delay	2623	GATA1	ORPHA:124
HP:0001510	Growth delay	2623	GATA1	OMIM:190685
HP:0001510	Growth delay	6223	RPS19	ORPHA:124
HP:0001510	Growth delay	6223	RPS19	OMIM:105650
HP:0001510	Growth delay	6232	RPS27	ORPHA:124
HP:0001510	Growth delay	11224	RPL35	ORPHA:124
HP:0001510	Growth delay	6160	RPL31	ORPHA:124
HP:0001510	Growth delay	6155	RPL27	ORPHA:124
HP:0001510	Growth delay	6154	RPL26	ORPHA:124
HP:0001510	Growth delay	6154	RPL26	OMIM:614900
HP:0001510	Growth delay	6210	RPS15A	ORPHA:124
HP:0001510	Growth delay	90121	TSR2	ORPHA:124
HP:0001510	Growth delay	6141	RPL18	ORPHA:124
HP:0001510	Growth delay	6235	RPS29	ORPHA:124
HP:0001510	Growth delay	6234	RPS28	ORPHA:124
HP:0001510	Growth delay	6234	RPS28	OMIM:606164
HP:0001510	Growth delay	51816	ADA2	ORPHA:124
HP:0001510	Growth delay	404672	GTF2H5	OMIM:616395
HP:0001510	Growth delay	205327	C2orf69	OMIM:619423
HP:0001510	Growth delay	26173	INTS1	OMIM:618571
HP:0001510	Growth delay	9427	ECEL1	OMIM:615065
HP:0001510	Growth delay	55656	INTS8	OMIM:618572
HP:0001510	Growth delay	55151	TMEM38B	OMIM:615066
HP:0001510	Growth delay	7201	TRHR	OMIM:618573
HP:0001510	Growth delay	165918	RNF168	OMIM:611943
HP:0001510	Growth delay	165918	RNF168	ORPHA:420741
HP:0001510	Growth delay	9949	AMMECR1	OMIM:300990
HP:0001510	Growth delay	4558	MT-TF	ORPHA:551
HP:0001510	Growth delay	4558	MT-TF	ORPHA:550
HP:0001510	Growth delay	4567	MT-TL1	ORPHA:551
HP:0001510	Growth delay	4567	MT-TL1	ORPHA:550
HP:0001510	Growth delay	4549	MT-RNR1	ORPHA:551
HP:0001510	Growth delay	4574	MT-TS1	ORPHA:551
HP:0001510	Growth delay	4574	MT-TS1	ORPHA:550
HP:0001510	Growth delay	4575	MT-TS2	ORPHA:551
HP:0001510	Growth delay	4575	MT-TS2	ORPHA:550
HP:0001510	Growth delay	4571	MT-TP	ORPHA:551
HP:0001510	Growth delay	4572	MT-TQ	ORPHA:551
HP:0001510	Growth delay	4572	MT-TQ	ORPHA:550
HP:0001510	Growth delay	4540	MT-ND5	ORPHA:551
HP:0001510	Growth delay	4540	MT-ND5	ORPHA:550
HP:0001510	Growth delay	4566	MT-TK	ORPHA:551
HP:0001510	Growth delay	4564	MT-TH	ORPHA:551
HP:0001510	Growth delay	4564	MT-TH	ORPHA:550
HP:0001510	Growth delay	4512	MT-CO1	ORPHA:550
HP:0001510	Growth delay	4513	MT-CO2	ORPHA:550
HP:0001510	Growth delay	4514	MT-CO3	ORPHA:550
HP:0001510	Growth delay	4578	MT-TW	ORPHA:550
HP:0001510	Growth delay	4541	MT-ND6	ORPHA:550
HP:0001510	Growth delay	4535	MT-ND1	ORPHA:550
HP:0001510	Growth delay	4538	MT-ND4	ORPHA:550
HP:0001510	Growth delay	6134	RPL10	OMIM:300998
HP:0001510	Growth delay	56896	DPYSL5	OMIM:619435
HP:0001510	Growth delay	1859	DYRK1A	ORPHA:268261
HP:0001510	Growth delay	1859	DYRK1A	OMIM:614104
HP:0001510	Growth delay	6418	SET	OMIM:618106
HP:0001510	Growth delay	7707	ZNF148	OMIM:617260
HP:0001510	Growth delay	3778	KCNMA1	OMIM:618596
HP:0001510	Growth delay	23729	SHPK	ORPHA:440713
HP:0001510	Growth delay	4952	OCRL	ORPHA:534
HP:0001510	Growth delay	4952	OCRL	OMIM:300555
HP:0001510	Growth delay	4952	OCRL	OMIM:309000
HP:0001510	Growth delay	56975	FAM20C	OMIM:259775
HP:0001510	Growth delay	79158	GNPTAB	ORPHA:576
HP:0001510	Growth delay	79158	GNPTAB	OMIM:252600
HP:0001510	Growth delay	4784	NFIX	OMIM:602535
HP:0001510	Growth delay	55250	ELP2	OMIM:617270
HP:0001510	Growth delay	3039	HBA1	ORPHA:98791
HP:0001510	Growth delay	3040	HBA2	ORPHA:98791
HP:0001510	Growth delay	2735	GLI1	OMIM:618123
HP:0001510	Growth delay	8888	MCM3AP	OMIM:618124
HP:0001510	Growth delay	51132	RLIM	OMIM:300978
HP:0001510	Growth delay	513	ATP5F1D	OMIM:618120
HP:0001510	Growth delay	1312	COMT	ORPHA:567
HP:0001510	Growth delay	221037	JMJD1C	ORPHA:567
HP:0001510	Growth delay	2812	GP1BB	ORPHA:567
HP:0001510	Growth delay	6239	RREB1	ORPHA:567
HP:0001510	Growth delay	6899	TBX1	ORPHA:567
HP:0001510	Growth delay	6899	TBX1	OMIM:192430
HP:0001510	Growth delay	6899	TBX1	OMIM:188400
HP:0001510	Growth delay	7290	HIRA	ORPHA:567
HP:0001510	Growth delay	9632	SEC24C	ORPHA:567
HP:0001510	Growth delay	7353	UFD1	ORPHA:567
HP:0001510	Growth delay	421	ARVCF	ORPHA:567
HP:0001510	Growth delay	3858	KRT10	OMIM:609165
HP:0001510	Growth delay	54880	BCOR	ORPHA:568
HP:0001510	Growth delay	54880	BCOR	OMIM:300166
HP:0001510	Growth delay	6557	SLC12A1	OMIM:601678
HP:0001510	Growth delay	633	BGN	OMIM:300989
HP:0001510	Growth delay	146206	CARMIL2	OMIM:618131
HP:0001510	Growth delay	3188	HNRNPH2	OMIM:300986
HP:0001510	Growth delay	4613	MYCN	ORPHA:391641
HP:0001510	Growth delay	57187	THOC2	OMIM:300957
HP:0001510	Growth delay	57187	THOC2	ORPHA:457240
HP:0001510	Growth delay	10526	IPO8	OMIM:619472
HP:0001510	Growth delay	2892	GRIA3	ORPHA:364028
HP:0001510	Growth delay	2892	GRIA3	OMIM:300699
HP:0001510	Growth delay	7737	RNF113A	OMIM:300953
HP:0001510	Growth delay	4361	MRE11	ORPHA:251347
HP:0001510	Growth delay	64327	LMBR1	ORPHA:988
HP:0001510	Growth delay	9060	PAPSS2	OMIM:612847
HP:0001510	Growth delay	673	BRAF	ORPHA:500
HP:0001510	Growth delay	673	BRAF	OMIM:613707
HP:0001510	Growth delay	673	BRAF	OMIM:613706
HP:0001510	Growth delay	673	BRAF	OMIM:115150
HP:0001510	Growth delay	673	BRAF	ORPHA:1340
HP:0001510	Growth delay	673	BRAF	OMIM:163950
HP:0001510	Growth delay	25839	COG4	OMIM:618150
HP:0001510	Growth delay	25839	COG4	ORPHA:85172
HP:0001510	Growth delay	8567	MADD	OMIM:619004
HP:0001510	Growth delay	2760	GM2A	ORPHA:309246
HP:0001510	Growth delay	60676	PAPPA2	OMIM:619489
HP:0001510	Growth delay	8239	USP9X	OMIM:300968
HP:0001510	Growth delay	8239	USP9X	ORPHA:480880
HP:0001510	Growth delay	2628	GATM	OMIM:134600
HP:0001510	Growth delay	2998	GYS2	ORPHA:2089
HP:0001510	Growth delay	407975	MIR17HG	ORPHA:391646
HP:0001510	Growth delay	55599	RNPC3	OMIM:618160
HP:0001510	Growth delay	5317	PKP1	ORPHA:158668
HP:0001510	Growth delay	7157	TP53	OMIM:618165
HP:0001510	Growth delay	2193	FARSA	OMIM:619013
HP:0001510	Growth delay	203190	LGI3	OMIM:620007
HP:0001510	Growth delay	9897	WASHC5	ORPHA:7
HP:0001510	Growth delay	28952	CCDC22	ORPHA:7
HP:0001510	Growth delay	64432	MRPS25	OMIM:619025
HP:0001510	Growth delay	1496	CTNNA2	OMIM:618174
HP:0001510	Growth delay	84168	ANTXR1	ORPHA:2067
HP:0001510	Growth delay	51002	TPRKB	ORPHA:2065
HP:0001510	Growth delay	84942	WDR73	ORPHA:2065
HP:0001510	Growth delay	84942	WDR73	OMIM:251300
HP:0001510	Growth delay	55746	NUP133	ORPHA:2065
HP:0001510	Growth delay	8270	LAGE3	ORPHA:2065
HP:0001510	Growth delay	8270	LAGE3	OMIM:301006
HP:0001510	Growth delay	26276	VPS33B	OMIM:620010
HP:0001510	Growth delay	7355	SLC35A2	ORPHA:356961
HP:0001510	Growth delay	123263	MTFMT	OMIM:614947
HP:0001510	Growth delay	9839	ZEB2	OMIM:235730
HP:0001510	Growth delay	9839	ZEB2	ORPHA:261552
HP:0001510	Growth delay	9839	ZEB2	ORPHA:261537
HP:0001510	Growth delay	2542	SLC37A4	OMIM:232220
HP:0001510	Growth delay	2542	SLC37A4	ORPHA:79259
HP:0001510	Growth delay	51506	UFC1	OMIM:618076
HP:0001510	Growth delay	80055	PGAP1	OMIM:615802
HP:0001510	Growth delay	10225	CD96	OMIM:211750
HP:0001510	Growth delay	10225	CD96	ORPHA:1308
HP:0001510	Growth delay	1763	DNA2	OMIM:615807
HP:0001510	Growth delay	3766	KCNJ10	OMIM:612780
HP:0001510	Growth delay	80204	FBXO11	OMIM:618089
HP:0001510	Growth delay	50814	NSDHL	OMIM:308050
HP:0001510	Growth delay	2538	G6PC1	OMIM:232200
HP:0001510	Growth delay	3953	LEPR	OMIM:614963
HP:0001510	Growth delay	23325	WASHC4	OMIM:615817
HP:0001510	Growth delay	57531	HACE1	ORPHA:464282
HP:0001510	Growth delay	57531	HACE1	OMIM:616756
HP:0001510	Growth delay	9896	FIG4	ORPHA:3472
HP:0001510	Growth delay	55697	VAC14	ORPHA:3472
HP:0001510	Growth delay	7156	TOP3A	OMIM:618097
HP:0001510	Growth delay	7020	TFAP2A	ORPHA:1297
HP:0001510	Growth delay	3425	IDUA	OMIM:607014
HP:0001510	Growth delay	3425	IDUA	OMIM:607015
HP:0001510	Growth delay	3425	IDUA	ORPHA:93473
HP:0001510	Growth delay	3425	IDUA	ORPHA:93476
HP:0001510	Growth delay	3192	HNRNPU	ORPHA:238769
HP:0001510	Growth delay	2903	GRIN2A	OMIM:245570
HP:0001510	Growth delay	2903	GRIN2A	ORPHA:289266
HP:0001510	Growth delay	5063	PAK3	OMIM:300558
HP:0001510	Growth delay	10056	FARSB	OMIM:613658
HP:0001510	Growth delay	3748	KCNC3	ORPHA:98768
HP:0001510	Growth delay	54499	TMCO1	OMIM:213980
HP:0001510	Growth delay	54499	TMCO1	ORPHA:1394
HP:0001510	Growth delay	10436	EMG1	ORPHA:1270
HP:0001510	Growth delay	81887	LAS1L	ORPHA:3459
HP:0001510	Growth delay	5422	POLA1	ORPHA:163976
HP:0001510	Growth delay	5422	POLA1	OMIM:301030
HP:0001510	Growth delay	10661	KLF1	OMIM:613673
HP:0001510	Growth delay	57393	CLTRN	ORPHA:2116
HP:0001510	Growth delay	55275	VPS53	OMIM:615851
HP:0001510	Growth delay	64116	SLC39A8	ORPHA:468699
HP:0001510	Growth delay	64116	SLC39A8	OMIM:616721
HP:0001510	Growth delay	28962	OSTM1	OMIM:259720
HP:0001510	Growth delay	355	FAS	ORPHA:3437
HP:0001510	Growth delay	26191	PTPN22	ORPHA:3437
HP:0001510	Growth delay	6664	SOX11	OMIM:615866
HP:0001510	Growth delay	91949	COG7	OMIM:608779
HP:0001510	Growth delay	2245	FGD1	OMIM:305400
HP:0001510	Growth delay	2245	FGD1	ORPHA:915
HP:0001510	Growth delay	124997	WDR81	OMIM:610185
HP:0001510	Growth delay	124997	WDR81	ORPHA:1766
HP:0001510	Growth delay	23028	KDM1A	OMIM:616728
HP:0001510	Growth delay	55593	OTUD5	OMIM:301056
HP:0001510	Growth delay	4854	NOTCH3	OMIM:130720
HP:0001510	Growth delay	10982	MAPRE2	OMIM:616734
HP:0001510	Growth delay	10982	MAPRE2	ORPHA:2505
HP:0001510	Growth delay	1911	PHC1	OMIM:615414
HP:0001510	Growth delay	1911	PHC1	ORPHA:2512
HP:0001510	Growth delay	2917	GRM7	OMIM:618922
HP:0001510	Growth delay	60	ACTB	ORPHA:79107
HP:0001510	Growth delay	60	ACTB	OMIM:243310
HP:0001510	Growth delay	8471	IRS4	OMIM:301035
HP:0001510	Growth delay	25	ABL1	OMIM:617602
HP:0001510	Growth delay	79415	CYBC1	OMIM:618935
HP:0001510	Growth delay	29980	DONSON	OMIM:617604
HP:0001510	Growth delay	9343	EFTUD2	ORPHA:79113
HP:0001510	Growth delay	9343	EFTUD2	OMIM:610536
HP:0001510	Growth delay	23476	BRD4	ORPHA:199
HP:0001510	Growth delay	157680	VPS13B	ORPHA:193
HP:0001510	Growth delay	157680	VPS13B	OMIM:216550
HP:0001510	Growth delay	71	ACTG1	OMIM:614583
HP:0001510	Growth delay	2517	FUCA1	OMIM:230000
HP:0001510	Growth delay	9894	TELO2	ORPHA:488642
HP:0001510	Growth delay	259266	ASPM	OMIM:608716
HP:0001510	Growth delay	259266	ASPM	ORPHA:2512
HP:0001510	Growth delay	23247	KATNIP	OMIM:616784
HP:0001510	Growth delay	1804	DPP6	ORPHA:2514
HP:0001510	Growth delay	1804	DPP6	OMIM:616311
HP:0001510	Growth delay	8192	CLPP	OMIM:614129
HP:0001510	Growth delay	85378	TUBGCP6	ORPHA:2518
HP:0001510	Growth delay	85378	TUBGCP6	OMIM:251270
HP:0001510	Growth delay	27229	TUBGCP4	ORPHA:2518
HP:0001510	Growth delay	1146	CHRNG	ORPHA:2990
HP:0001510	Growth delay	1146	CHRNG	OMIM:265000
HP:0001510	Growth delay	9939	RBM8A	OMIM:274000
HP:0001510	Growth delay	22931	RAB18	ORPHA:2510
HP:0001510	Growth delay	5286	PIK3C2A	ORPHA:557003
HP:0001510	Growth delay	5286	PIK3C2A	OMIM:618440
HP:0001510	Growth delay	9276	COPB2	ORPHA:2512
HP:0001510	Growth delay	11113	CIT	ORPHA:2512
HP:0001510	Growth delay	11113	CIT	OMIM:617090
HP:0001510	Growth delay	9928	KIF14	ORPHA:2512
HP:0001510	Growth delay	9928	KIF14	OMIM:617914
HP:0001510	Growth delay	284403	WDR62	ORPHA:2512
HP:0001510	Growth delay	55262	TRAPPC14	ORPHA:2512
HP:0001510	Growth delay	163786	SASS6	ORPHA:2512
HP:0001510	Growth delay	29920	PYCR2	ORPHA:2512
HP:0001510	Growth delay	84879	MFSD2A	ORPHA:2512
HP:0001510	Growth delay	4176	MCM7	ORPHA:2512
HP:0001510	Growth delay	29081	METTL5	ORPHA:2512
HP:0001510	Growth delay	23310	NCAPD3	ORPHA:2512
HP:0001510	Growth delay	23310	NCAPD3	OMIM:617984
HP:0001510	Growth delay	23141	ANKLE2	ORPHA:2512
HP:0001510	Growth delay	23141	ANKLE2	OMIM:616681
HP:0001510	Growth delay	9662	CEP135	ORPHA:2512
HP:0001510	Growth delay	1021	CDK6	ORPHA:2512
HP:0001510	Growth delay	10892	MALT1	OMIM:615468
HP:0001510	Growth delay	203068	TUBB	ORPHA:2505
HP:0001510	Growth delay	10749	KIF1C	ORPHA:397946
HP:0001510	Growth delay	104	ADARB1	OMIM:618862
HP:0001510	Growth delay	83932	SPRTN	OMIM:616200
HP:0001510	Growth delay	60684	TRAPPC11	OMIM:615356
HP:0001510	Growth delay	60684	TRAPPC11	ORPHA:869
HP:0001510	Growth delay	3703	STT3A	OMIM:619714
HP:0001510	Growth delay	347733	TUBB2B	ORPHA:1766
HP:0001510	Growth delay	51761	ATP8A2	ORPHA:1766
HP:0001510	Growth delay	767	CA8	ORPHA:1766
HP:0001510	Growth delay	3021	H3-3B	OMIM:619721
HP:0001510	Growth delay	79639	TMEM53	OMIM:619727
HP:0001510	Growth delay	84572	GNPTG	OMIM:252605
HP:0001510	Growth delay	716	C1S	ORPHA:75392
HP:0001510	Growth delay	715	C1R	ORPHA:75392
HP:0001510	Growth delay	2590	GALNT2	OMIM:618885
HP:0001510	Growth delay	170691	ADAMTS17	OMIM:613195
HP:0001510	Growth delay	4853	NOTCH2	OMIM:102500
HP:0001510	Growth delay	4853	NOTCH2	ORPHA:955
HP:0001510	Growth delay	56172	ANKH	OMIM:123000
HP:0001510	Growth delay	9581	PREPL	OMIM:616224
HP:0001510	Growth delay	23761	PISD	OMIM:618889
HP:0001510	Growth delay	5442	POLRMT	OMIM:619743
HP:0001510	Growth delay	833	CARS1	OMIM:618891
HP:0001510	Growth delay	55012	PPP2R3C	OMIM:618419
HP:0001510	Growth delay	1789	DNMT3B	OMIM:242860
HP:0001510	Growth delay	1789	DNMT3B	ORPHA:2268
HP:0001510	Growth delay	89891	DYNC2I2	ORPHA:474
HP:0001510	Growth delay	1947	EFNB1	OMIM:304110
HP:0001510	Growth delay	339983	NAT8L	OMIM:614063
HP:0001510	Growth delay	3572	IL6ST	OMIM:619750
HP:0001510	Growth delay	8363	H4C11	OMIM:619759
HP:0001510	Growth delay	54928	BPNT2	OMIM:614078
HP:0001510	Growth delay	53335	BCL11A	OMIM:617101
HP:0001510	Growth delay	9993	DGCR2	OMIM:192430
HP:0001510	Growth delay	8220	ESS2	OMIM:192430
HP:0001510	Growth delay	8214	DGCR6	OMIM:192430
HP:0001510	Growth delay	54487	DGCR8	OMIM:192430
HP:0001510	Growth delay	51651	PTRH2	OMIM:616263
HP:0001510	Growth delay	23162	MAPK8IP3	OMIM:618443
HP:0001510	Growth delay	249	ALPL	OMIM:241510
HP:0001510	Growth delay	387733	IFITM5	OMIM:610967
HP:0001510	Growth delay	26100	WIPI2	OMIM:618453
HP:0001510	Growth delay	8295	TRRAP	OMIM:618454
HP:0001510	Growth delay	5256	PHKA2	ORPHA:264580
HP:0001510	Growth delay	5261	PHKG2	ORPHA:264580
HP:0001510	Growth delay	6878	TAF6	OMIM:617126
HP:0001510	Growth delay	5277	PIGA	OMIM:301072
HP:0001510	Growth delay	2902	GRIN1	ORPHA:208447
HP:0001510	Growth delay	6492	SIM1	ORPHA:369873
HP:0001510	Growth delay	79879	CCDC134	OMIM:619795
HP:0001510	Growth delay	54892	NCAPG2	OMIM:618460
HP:0001510	Growth delay	6650	CAPN15	OMIM:619318
HP:0001510	Growth delay	8675	STX16	ORPHA:94089
HP:0001510	Growth delay	5631	PRPS1	ORPHA:423479
HP:0001510	Growth delay	5631	PRPS1	OMIM:300661
HP:0001510	Growth delay	6548	SLC9A1	OMIM:616291
HP:0001510	Growth delay	221496	LEMD2	OMIM:619322
HP:0001510	Growth delay	29998	BICRA	OMIM:619325
HP:0001510	Growth delay	6651	SON	OMIM:617140
HP:0001510	Growth delay	23586	RIGI	OMIM:616298
HP:0001510	Growth delay	8882	ZPR1	OMIM:619321
HP:0001510	Growth delay	55503	TRPV6	ORPHA:417
HP:0001510	Growth delay	846	CASR	ORPHA:417
HP:0001510	Growth delay	846	CASR	OMIM:601198
HP:0001510	Growth delay	1725	DHPS	OMIM:618480
HP:0001510	Growth delay	7476	WNT7A	OMIM:228930
HP:0001510	Growth delay	2530	FUT8	OMIM:618005
HP:0001510	Growth delay	54496	PRMT7	OMIM:617157
HP:0001510	Growth delay	1108	CHD4	OMIM:617159
HP:0001510	Growth delay	23389	MED13L	ORPHA:369891
HP:0001510	Growth delay	1781	DYNC1I2	OMIM:618492
HP:0001510	Growth delay	8091	HMGA2	ORPHA:94063
HP:0001510	Growth delay	23592	LEMD3	ORPHA:94063
HP:0001510	Growth delay	23592	LEMD3	ORPHA:1306
HP:0001510	Growth delay	54681	P4HTM	OMIM:618493
HP:0001510	Growth delay	79644	SRD5A3	OMIM:612713
HP:0001510	Growth delay	5977	DPF2	OMIM:618027
HP:0001510	Growth delay	29926	GMPPA	ORPHA:869
HP:0001510	Growth delay	2077	ERF	OMIM:617180
HP:0001510	Growth delay	51715	RAB23	OMIM:201000
HP:0001510	Growth delay	226	ALDOA	OMIM:611881
HP:0001510	Growth delay	6299	SALL1	ORPHA:857
HP:0001510	Growth delay	51339	DACT1	ORPHA:857
HP:0001510	Growth delay	5080	PAX6	ORPHA:893
HP:0001510	Growth delay	627	BDNF	ORPHA:893
HP:0001510	Growth delay	7490	WT1	ORPHA:893
HP:0001510	Growth delay	1650	DDOST	ORPHA:300536
HP:0001510	Growth delay	7390	UROS	OMIM:263700
HP:0001510	Growth delay	142680	SLC34A3	ORPHA:157215
HP:0001510	Growth delay	2332	FMR1	ORPHA:261483
HP:0001510	Growth delay	23154	NCDN	OMIM:619373
HP:0001510	Growth delay	5236	PGM1	OMIM:614921
HP:0001510	Growth delay	11011	TLK2	OMIM:618050
HP:0001510	Growth delay	161742	SPRED1	ORPHA:137605
HP:0001510	Growth delay	5144	PDE4D	ORPHA:950
HP:0001510	Growth delay	7421	VDR	ORPHA:93160
HP:0001510	Growth delay	9131	AIFM1	OMIM:300232
HP:0001510	Growth delay	347734	SLC35B2	OMIM:620269
HP:0001510	Growth delay	345895	RSPH4A	OMIM:612649
HP:0001510	Growth delay	23118	TAB2	ORPHA:228410
HP:0001510	Growth delay	221421	RSPH9	OMIM:612650
HP:0001510	Growth delay	2911	GRM1	OMIM:614831
HP:0001510	Growth delay	64324	NSD1	ORPHA:228415
HP:0001510	Growth delay	6926	TBX3	ORPHA:3138
HP:0001510	Growth delay	3899	AFF3	OMIM:619297
HP:0001510	Growth delay	10157	AASS	ORPHA:3124
HP:0001510	Growth delay	10157	AASS	ORPHA:2203
HP:0001510	Growth delay	5095	PCCA	OMIM:606054
HP:0001510	Growth delay	5096	PCCB	OMIM:606054
HP:0001510	Growth delay	3070	HELLS	ORPHA:2268
HP:0001510	Growth delay	83879	CDCA7	ORPHA:2268
HP:0001510	Growth delay	9841	ZBTB24	ORPHA:2268
HP:0001510	Growth delay	649	BMP1	OMIM:614856
HP:0001510	Growth delay	6804	STX1A	ORPHA:904
HP:0001510	Growth delay	7461	CLIP2	ORPHA:904
HP:0001510	Growth delay	84277	DNAJC30	ORPHA:904
HP:0001510	Growth delay	8468	FKBP6	ORPHA:904
HP:0001510	Growth delay	5982	RFC2	ORPHA:904
HP:0001510	Growth delay	2969	GTF2I	ORPHA:904
HP:0001510	Growth delay	3984	LIMK1	ORPHA:904
HP:0001510	Growth delay	9569	GTF2IRD1	ORPHA:904
HP:0001510	Growth delay	155382	VPS37D	ORPHA:904
HP:0001510	Growth delay	155368	METTL27	ORPHA:904
HP:0001510	Growth delay	114049	BUD23	ORPHA:904
HP:0001510	Growth delay	7458	EIF4H	ORPHA:904
HP:0001510	Growth delay	84163	GTF2IRD2	ORPHA:904
HP:0001510	Growth delay	9275	BCL7B	ORPHA:904
HP:0001510	Growth delay	26608	TBL2	ORPHA:904
HP:0001510	Growth delay	653361	NCF1	ORPHA:904
HP:0001510	Growth delay	135886	TMEM270	ORPHA:904
HP:0001510	Growth delay	9031	BAZ1B	ORPHA:904
HP:0001510	Growth delay	6329	SCN4A	ORPHA:99735
HP:0001510	Growth delay	6628	SNRPB	ORPHA:1393
HP:0001510	Growth delay	84634	KISS1R	OMIM:176400
HP:0001510	Growth delay	9493	KIF23	ORPHA:98870
HP:0001510	Growth delay	29127	RACGAP1	ORPHA:98870
HP:0001510	Growth delay	23483	TGDS	ORPHA:1388
HP:0001510	Growth delay	4313	MMP2	OMIM:259600
HP:0001510	Growth delay	55081	IFT57	OMIM:617927
HP:0001510	Growth delay	27152	INTU	OMIM:617926
HP:0001510	Growth delay	7507	XPA	ORPHA:910
HP:0001510	Growth delay	7508	XPC	ORPHA:910
HP:0001510	Growth delay	1643	DDB2	ORPHA:910
HP:0001510	Growth delay	9698	PUM1	OMIM:617931
HP:0001510	Growth delay	4173	MCM4	OMIM:609981
HP:0001510	Growth delay	7849	PAX8	ORPHA:95720
HP:0001510	Growth delay	7849	PAX8	ORPHA:95713
HP:0001510	Growth delay	7849	PAX8	ORPHA:95712
HP:0001510	Growth delay	7253	TSHR	ORPHA:95720
HP:0001510	Growth delay	7253	TSHR	ORPHA:95713
HP:0001510	Growth delay	5172	SLC26A4	ORPHA:95720
HP:0001510	Growth delay	5172	SLC26A4	ORPHA:95713
HP:0001510	Growth delay	389827	MYMK	ORPHA:1358
HP:0001510	Growth delay	101929726	MYMX	ORPHA:1358
HP:0001510	Growth delay	8671	SLC4A4	OMIM:604278
HP:0001510	Growth delay	1482	NKX2-5	ORPHA:95713
HP:0001510	Growth delay	1482	NKX2-5	ORPHA:95712
HP:0001510	Growth delay	2304	FOXE1	ORPHA:95713
HP:0001510	Growth delay	54974	THG1L	OMIM:618800
HP:0001510	Growth delay	1292	COL6A2	OMIM:255600
HP:0001510	Growth delay	9056	SLC7A7	OMIM:222700
HP:0001510	Growth delay	1729	DIAPH1	OMIM:616632
HP:0001510	Growth delay	175	AGA	OMIM:208400
HP:0001510	Growth delay	2239	GPC4	ORPHA:2662
HP:0001510	Growth delay	116442	RAB39B	OMIM:300271
HP:0001510	Growth delay	7874	USP7	ORPHA:500055
HP:0001510	Growth delay	55325	UFSP2	OMIM:617974
HP:0001510	Growth delay	8087	FXR1	OMIM:618822
HP:0001510	Growth delay	5205	ATP8B1	OMIM:211600
HP:0001510	Growth delay	285175	UNC80	ORPHA:371364
HP:0001510	Growth delay	9918	NCAPD2	OMIM:617983
HP:0001510	Growth delay	54870	QRICH1	OMIM:617982
HP:0001510	Growth delay	3295	HSD17B4	OMIM:233400
HP:0001510	Growth delay	2819	GPD1	OMIM:614480
HP:0001510	Growth delay	51780	KDM3B	OMIM:618846
HP:0001510	Growth delay	8815	BANF1	OMIM:614008
HP:0001510	Growth delay	10312	TCIRG1	ORPHA:1782
HP:0001510	Growth delay	9130	FAM50A	OMIM:300261
HP:0001510	Growth delay	5307	PITX1	OMIM:119800
HP:0001510	Growth delay	55651	NHP2	ORPHA:1775
HP:0001510	Growth delay	55135	WRAP53	ORPHA:1775
HP:0001510	Growth delay	4869	NPM1	ORPHA:1775
HP:0001510	Growth delay	7012	TERC	ORPHA:1775
HP:0001510	Growth delay	55505	NOP10	ORPHA:1775
HP:0001510	Growth delay	6736	SRY	ORPHA:1772
HP:0001510	Growth delay	256297	PTF1A	OMIM:609069
HP:0001510	Growth delay	85465	SELENOI	ORPHA:506353
HP:0001510	Growth delay	91252	SLC39A13	ORPHA:157965
HP:0001510	Growth delay	91252	SLC39A13	OMIM:612350
HP:0001510	Growth delay	860	RUNX2	OMIM:119600
HP:0001510	Growth delay	3239	HOXD13	OMIM:113300
HP:0001510	Growth delay	2625	GATA3	ORPHA:2237
HP:0001510	Growth delay	5557	PRIM1	OMIM:620005
HP:0001510	Growth delay	641	BLM	ORPHA:125
HP:0001510	Growth delay	7466	WFS1	ORPHA:411590
HP:0001510	Growth delay	7252	TSHB	OMIM:275100
HP:0001510	Growth delay	6524	SLC5A2	ORPHA:69076
HP:0001510	Growth delay	9653	HS2ST1	OMIM:619194
HP:0001510	Growth delay	4921	DDR2	OMIM:271665
HP:0001510	Growth delay	23169	SLC35D1	ORPHA:3144
HP:0001510	Growth delay	23169	SLC35D1	OMIM:269250
HP:0001510	Growth delay	64175	P3H1	OMIM:610915
HP:0001510	Growth delay	2121	EVC	OMIM:225500
HP:0001510	Growth delay	132884	EVC2	OMIM:225500
HP:0001510	Growth delay	11014	KDELR2	OMIM:619131
HP:0001510	Growth delay	23184	MESD	OMIM:618644
HP:0001510	Growth delay	5479	PPIB	OMIM:259440
HP:0001510	Growth delay	406932	MIR140	OMIM:618618
HP:0001510	Growth delay	3763	KCNJ6	ORPHA:435628
HP:0001510	Growth delay	3376	IARS1	OMIM:617093
HP:0001510	Growth delay	340533	NEXMIF	OMIM:300912
HP:0001510	Growth delay	5723	PSPH	OMIM:614023
HP:0001510	Growth delay	5723	PSPH	ORPHA:79350
HP:0001510	Growth delay	775	CACNA1C	OMIM:620029
HP:0001510	Growth delay	6718	AKR1D1	ORPHA:79303
HP:0001510	Growth delay	2767	GNA11	OMIM:615361
HP:0001510	Growth delay	1723	DHODH	OMIM:263750
HP:0001510	Growth delay	4552	MTRR	ORPHA:2169
HP:0001510	Growth delay	10381	TUBB3	ORPHA:300570
HP:0001510	Growth delay	2035	EPB41	ORPHA:288
HP:0001510	Growth delay	2995	GYPC	ORPHA:288
HP:0001510	Growth delay	6710	SPTB	ORPHA:288
HP:0001510	Growth delay	6708	SPTA1	ORPHA:288
HP:0001510	Growth delay	222663	SCUBE3	OMIM:619184
HP:0001510	Growth delay	6872	TAF1	ORPHA:480907
HP:0001510	Growth delay	6872	TAF1	OMIM:300966
HP:0001510	Growth delay	1105	CHD1	OMIM:617682
HP:0001510	Growth delay	1105	CHD1	ORPHA:529965
HP:0001510	Growth delay	790955	UQCC3	OMIM:616111
HP:0001510	Growth delay	6399	TRAPPC2	OMIM:313400
HP:0001510	Growth delay	26040	SETBP1	OMIM:269150
HP:0001510	Growth delay	2706	GJB2	ORPHA:477
HP:0001510	Growth delay	23345	SYNE1	ORPHA:319332
HP:0001510	Growth delay	78989	COLEC11	OMIM:265050
HP:0001510	Growth delay	78989	COLEC11	ORPHA:293843
HP:0001510	Growth delay	5324	PLAG1	ORPHA:397590
HP:0001510	Growth delay	9338	TCEAL1	OMIM:301094
HP:0001510	Growth delay	5648	MASP1	OMIM:257920
HP:0001510	Growth delay	5648	MASP1	ORPHA:293843
HP:0001510	Growth delay	6514	SLC2A2	OMIM:227810
HP:0001510	Growth delay	10229	COQ7	OMIM:616733
HP:0001510	Growth delay	131118	DNAJC19	OMIM:610198
HP:0001510	Growth delay	6659	SOX4	ORPHA:1465
HP:0001510	Growth delay	6601	SMARCC2	ORPHA:1465
HP:0001510	Growth delay	6602	SMARCD1	ORPHA:1465
HP:0001510	Growth delay	1641	DCX	OMIM:300067
HP:0001510	Growth delay	8985	PLOD3	OMIM:612394
HP:0001510	Growth delay	57061	HYMAI	ORPHA:96191
HP:0001510	Growth delay	5325	PLAGL1	ORPHA:96191
HP:0001510	Growth delay	998	CDC42	ORPHA:487796
HP:0001510	Growth delay	54796	BNC2	ORPHA:93110
HP:0001510	Growth delay	84665	MYPN	ORPHA:75249
HP:0001510	Growth delay	2318	FLNC	ORPHA:75249
HP:0001510	Growth delay	7139	TNNT2	ORPHA:75249
HP:0001510	Growth delay	7137	TNNI3	ORPHA:75249
HP:0001510	Growth delay	10112	KIF20A	ORPHA:75249
HP:0001510	Growth delay	6925	TCF4	ORPHA:2896
HP:0001510	Growth delay	2887	GRB10	ORPHA:96182
HP:0001510	Growth delay	60528	ELAC2	OMIM:615440
HP:0001510	Growth delay	5456	POU3F4	ORPHA:1435
HP:0001510	Growth delay	57020	VPS35L	OMIM:619135
HP:0001510	Growth delay	1663	DDX11	OMIM:613398
HP:0001510	Growth delay	383	ARG1	OMIM:207800
HP:0001510	Growth delay	6522	SLC4A2	OMIM:620366
HP:0001510	Growth delay	1585	CYP11B2	ORPHA:556030
HP:0001510	Growth delay	10079	ATP9A	OMIM:620242
HP:0001510	Growth delay	57539	WDR35	OMIM:613610
HP:0001510	Growth delay	57539	WDR35	ORPHA:1515
HP:0001510	Growth delay	145173	B3GLCT	ORPHA:709
HP:0001510	Growth delay	145173	B3GLCT	OMIM:261540
HP:0001510	Growth delay	10586	MAB21L2	OMIM:615877
HP:0001510	Growth delay	755	CFAP410	OMIM:602271
HP:0001510	Growth delay	8540	AGPS	OMIM:600121
HP:0001510	Growth delay	8200	GDF5	OMIM:228900
HP:0001510	Growth delay	8443	GNPAT	OMIM:222765
HP:0001510	Growth delay	8942	KYNU	OMIM:617661
HP:0001510	Growth delay	114803	MYSM1	OMIM:618116
HP:0001510	Growth delay	1717	DHCR7	ORPHA:818
HP:0001510	Growth delay	176	ACAN	OMIM:612813
HP:0001510	Growth delay	176	ACAN	ORPHA:171866
HP:0001510	Growth delay	112752	IFT43	ORPHA:1515
HP:0001510	Growth delay	112752	IFT43	OMIM:614099
HP:0001510	Growth delay	51098	IFT52	ORPHA:1515
HP:0001510	Growth delay	55764	IFT122	ORPHA:1515
HP:0001510	Growth delay	55764	IFT122	OMIM:218330
HP:0001510	Growth delay	57728	WDR19	ORPHA:1515
HP:0001510	Growth delay	57728	WDR19	OMIM:614376
HP:0001510	Growth delay	9382	COG1	OMIM:611209
HP:0001510	Growth delay	9382	COG1	ORPHA:263508
HP:0001510	Growth delay	9469	CHST3	ORPHA:263463
HP:0001510	Growth delay	9469	CHST3	OMIM:143095
HP:0001510	Growth delay	9469	CHST3	OMIM:245600
HP:0001510	Growth delay	10082	GPC6	OMIM:258315
HP:0001510	Growth delay	10082	GPC6	ORPHA:93329
HP:0001510	Growth delay	90993	CREB3L1	OMIM:616229
HP:0001510	Growth delay	79087	ALG12	OMIM:607143
HP:0001510	Growth delay	372	ARCN1	OMIM:617164
HP:0001510	Growth delay	10013	HDAC6	OMIM:300863
HP:0001510	Growth delay	10013	HDAC6	ORPHA:163966
HP:0001510	Growth delay	4297	KMT2A	ORPHA:319182
HP:0001510	Growth delay	1301	COL11A1	OMIM:228520
HP:0001510	Growth delay	1301	COL11A1	ORPHA:440354
HP:0001510	Growth delay	2475	MTOR	OMIM:616638
HP:0001510	Growth delay	3930	LBR	OMIM:618019
HP:0001510	Growth delay	3930	LBR	OMIM:215140
HP:0001510	Growth delay	3930	LBR	ORPHA:1426
HP:0001510	Growth delay	4322	MMP13	OMIM:602111
HP:0001510	Growth delay	5593	PRKG2	OMIM:619638
HP:0001510	Growth delay	5593	PRKG2	OMIM:619636
HP:0001510	Growth delay	91461	PKDCC	OMIM:618821
HP:0001510	Growth delay	4796	TONSL	ORPHA:93357
HP:0001510	Growth delay	4796	TONSL	OMIM:271510
HP:0001510	Growth delay	145258	GSC	OMIM:602471
HP:0001510	Growth delay	79796	ALG9	ORPHA:79328
HP:0001510	Growth delay	9702	CEP57	OMIM:614114
HP:0001510	Growth delay	23387	SIK3	OMIM:618162
HP:0001510	Growth delay	153241	CEP120	OMIM:616300
HP:0001510	Growth delay	10491	CRTAP	OMIM:610682
HP:0001510	Growth delay	10682	EBP	OMIM:302960
HP:0001510	Growth delay	1513	CTSK	ORPHA:763
HP:0001510	Growth delay	26229	B3GAT3	OMIM:245600
HP:0001510	Growth delay	6913	TBX15	OMIM:260660
HP:0001510	Growth delay	9742	IFT140	OMIM:266920
HP:0001510	Growth delay	81570	CLPB	OMIM:616271
HP:0001510	Growth delay	57560	IFT80	OMIM:611263
HP:0001510	Growth delay	25886	POC1A	OMIM:614813
HP:0001510	Growth delay	871	SERPINH1	OMIM:613848
HP:0001510	Growth delay	2879	GPX4	OMIM:250220
HP:0001510	Growth delay	10273	STUB1	ORPHA:412057
HP:0001510	Growth delay	10165	SLC25A13	ORPHA:247585
HP:0001510	Growth delay	10059	DNM1L	ORPHA:330050
HP:0001510	Growth delay	2488	FSHB	ORPHA:52901
HP:0001435	Abnormality of the shoulder girdle musculature	1756	DMD	ORPHA:206546
HP:0001435	Abnormality of the shoulder girdle musculature	291	SLC25A4	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	11232	POLG2	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	50484	RRM2B	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	1410	CRYAB	OMIM:608810
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	OMIM:606612
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	ORPHA:34515
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	OMIM:607155
HP:0001435	Abnormality of the shoulder girdle musculature	1763	DNA2	OMIM:615156
HP:0001435	Abnormality of the shoulder girdle musculature	51099	ABHD5	ORPHA:98907
HP:0001435	Abnormality of the shoulder girdle musculature	22954	TRIM32	OMIM:254110
HP:0001435	Abnormality of the shoulder girdle musculature	9782	MATR3	OMIM:606070
HP:0001435	Abnormality of the shoulder girdle musculature	9782	MATR3	ORPHA:600
HP:0001435	Abnormality of the shoulder girdle musculature	57104	PNPLA2	ORPHA:98908
HP:0001435	Abnormality of the shoulder girdle musculature	1073	CFL2	OMIM:610687
HP:0001435	Abnormality of the shoulder girdle musculature	2581	GALC	ORPHA:206436
HP:0001435	Abnormality of the shoulder girdle musculature	5660	PSAP	ORPHA:206436
HP:0001435	Abnormality of the shoulder girdle musculature	4556	MT-TE	ORPHA:2596
HP:0001435	Abnormality of the shoulder girdle musculature	6606	SMN1	OMIM:253400
HP:0001435	Abnormality of the shoulder girdle musculature	6607	SMN2	OMIM:253400
HP:0001435	Abnormality of the shoulder girdle musculature	10049	DNAJB6	OMIM:603511
HP:0001435	Abnormality of the shoulder girdle musculature	9499	MYOT	ORPHA:266
HP:0001435	Abnormality of the shoulder girdle musculature	57190	SELENON	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	4633	MYL2	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	3679	ITGA7	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	9200	HACD1	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	51776	MAP3K20	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	54332	GDAP1	ORPHA:99948
HP:0001435	Abnormality of the shoulder girdle musculature	9987	HNRNPDL	OMIM:609115
HP:0001435	Abnormality of the shoulder girdle musculature	6329	SCN4A	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1134	CHRNA1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	4038	LRP4	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1305	COL13A1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1140	CHRNB1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1144	CHRND	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1145	CHRNE	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	4593	MUSK	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	5913	RAPSN	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	375790	AGRN	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	221264	AK9	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	285489	DOK7	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	274	BIN1	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	274	BIN1	OMIM:255200
HP:0001435	Abnormality of the shoulder girdle musculature	10290	SPEG	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	6261	RYR1	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	6261	RYR1	ORPHA:424107
HP:0001435	Abnormality of the shoulder girdle musculature	7273	TTN	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	7273	TTN	OMIM:603689
HP:0001435	Abnormality of the shoulder girdle musculature	79912	PYROXD1	OMIM:617258
HP:0001435	Abnormality of the shoulder girdle musculature	9820	CUL7	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	9820	CUL7	OMIM:273750
HP:0001435	Abnormality of the shoulder girdle musculature	23363	OBSL1	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	23363	OBSL1	OMIM:612921
HP:0001435	Abnormality of the shoulder girdle musculature	83987	CCDC8	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	7415	VCP	OMIM:167320
HP:0001435	Abnormality of the shoulder girdle musculature	7415	VCP	ORPHA:435387
HP:0001435	Abnormality of the shoulder girdle musculature	7415	VCP	ORPHA:329478
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	OMIM:253600
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	ORPHA:267
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	OMIM:618129
HP:0001435	Abnormality of the shoulder girdle musculature	6442	SGCA	OMIM:608099
HP:0001435	Abnormality of the shoulder girdle musculature	6442	SGCA	ORPHA:62
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	OMIM:181350
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	ORPHA:98855
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	8291	DYSF	ORPHA:268
HP:0001435	Abnormality of the shoulder girdle musculature	7084	TK2	ORPHA:254886
HP:0001435	Abnormality of the shoulder girdle musculature	7084	TK2	OMIM:617069
HP:0001435	Abnormality of the shoulder girdle musculature	5428	POLG	ORPHA:254886
HP:0001435	Abnormality of the shoulder girdle musculature	5428	POLG	OMIM:607459
HP:0001435	Abnormality of the shoulder girdle musculature	729920	CRPPA	OMIM:616052
HP:0001435	Abnormality of the shoulder girdle musculature	729920	CRPPA	ORPHA:352479
HP:0001435	Abnormality of the shoulder girdle musculature	55790	CSGALNACT1	OMIM:618870
HP:0001435	Abnormality of the shoulder girdle musculature	58	ACTA1	OMIM:616852
HP:0001435	Abnormality of the shoulder girdle musculature	58	ACTA1	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	6443	SGCB	OMIM:604286
HP:0001435	Abnormality of the shoulder girdle musculature	2992	GYG1	OMIM:613507
HP:0001435	Abnormality of the shoulder girdle musculature	25778	DSTYK	OMIM:270750
HP:0001435	Abnormality of the shoulder girdle musculature	29925	GMPPB	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	2673	GFPT1	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	1798	DPAGT1	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	85365	ALG2	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	85365	ALG2	OMIM:616228
HP:0001435	Abnormality of the shoulder girdle musculature	199857	ALG14	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	10059	DNM1L	ORPHA:98673
HP:0001435	Abnormality of the shoulder girdle musculature	4976	OPA1	ORPHA:98673
HP:0001435	Abnormality of the shoulder girdle musculature	6444	SGCD	OMIM:601287
HP:0001435	Abnormality of the shoulder girdle musculature	6444	SGCD	ORPHA:219
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	OMIM:300696
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	OMIM:300695
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	ORPHA:98863
HP:0001435	Abnormality of the shoulder girdle musculature	2316	FLNA	OMIM:305620
HP:0001435	Abnormality of the shoulder girdle musculature	2483	FRG1	OMIM:158900
HP:0001435	Abnormality of the shoulder girdle musculature	23347	SMCHD1	OMIM:158901
HP:0001435	Abnormality of the shoulder girdle musculature	55870	ASH1L	OMIM:617796
HP:0001435	Abnormality of the shoulder girdle musculature	8878	SQSTM1	OMIM:617158
HP:0001435	Abnormality of the shoulder girdle musculature	7169	TPM2	OMIM:609285
HP:0001435	Abnormality of the shoulder girdle musculature	7169	TPM2	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	64856	VWA1	OMIM:619216
HP:0001435	Abnormality of the shoulder girdle musculature	311	ANXA11	OMIM:619733
HP:0001435	Abnormality of the shoulder girdle musculature	4604	MYBPC1	OMIM:618524
HP:0001435	Abnormality of the shoulder girdle musculature	2138	EYA1	ORPHA:2792
HP:0001435	Abnormality of the shoulder girdle musculature	2138	EYA1	OMIM:166780
HP:0001435	Abnormality of the shoulder girdle musculature	5075	PAX1	ORPHA:2792
HP:0001435	Abnormality of the shoulder girdle musculature	5075	PAX1	OMIM:615560
HP:0001435	Abnormality of the shoulder girdle musculature	4625	MYH7	OMIM:608358
HP:0001435	Abnormality of the shoulder girdle musculature	4625	MYH7	ORPHA:437572
HP:0001435	Abnormality of the shoulder girdle musculature	3759	KCNJ2	OMIM:170390
HP:0001435	Abnormality of the shoulder girdle musculature	5077	PAX3	OMIM:148820
HP:0001435	Abnormality of the shoulder girdle musculature	10020	GNE	ORPHA:602
HP:0001435	Abnormality of the shoulder girdle musculature	4620	MYH2	OMIM:605637
HP:0001435	Abnormality of the shoulder girdle musculature	80324	PUS1	OMIM:600462
HP:0001435	Abnormality of the shoulder girdle musculature	1303	COL12A1	OMIM:616471
HP:0001435	Abnormality of the shoulder girdle musculature	1303	COL12A1	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	83636	C19orf12	OMIM:614298
HP:0001435	Abnormality of the shoulder girdle musculature	23545	ATP6V0A2	OMIM:278250
HP:0001435	Abnormality of the shoulder girdle musculature	200734	SPRED2	OMIM:619745
HP:0001435	Abnormality of the shoulder girdle musculature	9531	BAG3	OMIM:612954
HP:0001435	Abnormality of the shoulder girdle musculature	4747	NEFL	ORPHA:101085
HP:0001435	Abnormality of the shoulder girdle musculature	2200	FBN1	OMIM:616914
HP:0001435	Abnormality of the shoulder girdle musculature	6445	SGCG	ORPHA:353
HP:0001435	Abnormality of the shoulder girdle musculature	55791	LRIF1	OMIM:619477
HP:0001435	Abnormality of the shoulder girdle musculature	84665	MYPN	OMIM:617336
HP:0001435	Abnormality of the shoulder girdle musculature	84665	MYPN	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	5781	PTPN11	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	5781	PTPN11	OMIM:151100
HP:0001435	Abnormality of the shoulder girdle musculature	673	BRAF	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	5894	RAF1	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	7204	TRIO	OMIM:617061
HP:0001435	Abnormality of the shoulder girdle musculature	10220	GDF11	OMIM:619122
HP:0001435	Abnormality of the shoulder girdle musculature	163175	LGI4	OMIM:617468
HP:0001435	Abnormality of the shoulder girdle musculature	8292	COLQ	ORPHA:98915
HP:0001435	Abnormality of the shoulder girdle musculature	3913	LAMB2	ORPHA:98915
HP:0001435	Abnormality of the shoulder girdle musculature	1291	COL6A1	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	1292	COL6A2	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	1293	COL6A3	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	23299	BICD2	OMIM:615290
HP:0001435	Abnormality of the shoulder girdle musculature	11117	EMILIN1	OMIM:620080
HP:0001435	Abnormality of the shoulder girdle musculature	56983	POGLUT1	OMIM:617232
HP:0001435	Abnormality of the shoulder girdle musculature	57479	PRR12	OMIM:619539
HP:0001435	Abnormality of the shoulder girdle musculature	390594	KBTBD13	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	4703	NEB	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	10324	KLHL41	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	7170	TPM3	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	2317	FLNB	OMIM:272460
HP:0001435	Abnormality of the shoulder girdle musculature	2010	EMD	ORPHA:98863
HP:0001435	Abnormality of the shoulder girdle musculature	29954	POMT2	ORPHA:206559
HP:0001435	Abnormality of the shoulder girdle musculature	23676	SMPX	OMIM:301075
HP:0001435	Abnormality of the shoulder girdle musculature	56652	TWNK	OMIM:607459
HP:0001435	Abnormality of the shoulder girdle musculature	7043	TGFB3	OMIM:615582
HP:0001435	Abnormality of the shoulder girdle musculature	10801	SEPTIN9	ORPHA:2901
HP:0001435	Abnormality of the shoulder girdle musculature	7227	TRPS1	OMIM:190350
HP:0001435	Abnormality of the shoulder girdle musculature	23224	SYNE2	OMIM:612999
HP:0001435	Abnormality of the shoulder girdle musculature	23224	SYNE2	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	23534	TNPO3	OMIM:608423
HP:0001435	Abnormality of the shoulder girdle musculature	59341	TRPV4	OMIM:181405
HP:0001435	Abnormality of the shoulder girdle musculature	79188	TMEM43	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	23345	SYNE1	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	203859	ANO5	ORPHA:206549
HP:0001435	Abnormality of the shoulder girdle musculature	257	ALX3	OMIM:136760
HP:0001435	Abnormality of the shoulder girdle musculature	8092	ALX1	ORPHA:306542
HP:0001435	Abnormality of the shoulder girdle musculature	6885	MAP3K7	ORPHA:1826
HP:0001435	Abnormality of the shoulder girdle musculature	9939	RBM8A	OMIM:274000
HP:0001435	Abnormality of the shoulder girdle musculature	2218	FKTN	OMIM:611588
HP:0001435	Abnormality of the shoulder girdle musculature	6910	TBX5	OMIM:142900
HP:0001435	Abnormality of the shoulder girdle musculature	5980	REV3L	ORPHA:570
HP:0001435	Abnormality of the shoulder girdle musculature	23129	PLXND1	ORPHA:570
HP:0001435	Abnormality of the shoulder girdle musculature	6926	TBX3	ORPHA:3138
HP:0001435	Abnormality of the shoulder girdle musculature	389827	MYMK	ORPHA:1358
HP:0001435	Abnormality of the shoulder girdle musculature	101929726	MYMX	ORPHA:1358
HP:0001435	Abnormality of the shoulder girdle musculature	57167	SALL4	OMIM:147750
HP:0001436	Abnormality of the foot musculature	274	BIN1	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	64419	MTMR14	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	4618	MYF6	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	1785	DNM2	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	6261	RYR1	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	10020	GNE	ORPHA:602
HP:0001436	Abnormality of the foot musculature	26580	BSCL2	ORPHA:100998
HP:0001436	Abnormality of the foot musculature	9987	HNRNPDL	OMIM:609115
HP:0001436	Abnormality of the foot musculature	55958	KLHL9	ORPHA:399081
HP:0001436	Abnormality of the foot musculature	4625	MYH7	OMIM:160500
HP:0001436	Abnormality of the foot musculature	4000	LMNA	ORPHA:98856
HP:0001437	Abnormality of the musculature of the lower limbs	57104	PNPLA2	ORPHA:565612
HP:0001437	Abnormality of the musculature of the lower limbs	55958	KLHL9	ORPHA:399081
HP:0001437	Abnormality of the musculature of the lower limbs	29926	GMPPA	ORPHA:869
HP:0001437	Abnormality of the musculature of the lower limbs	60684	TRAPPC11	ORPHA:869
HP:0001437	Abnormality of the musculature of the lower limbs	8086	AAAS	ORPHA:869
HP:0001437	Abnormality of the musculature of the lower limbs	9782	MATR3	ORPHA:600
HP:0001437	Abnormality of the musculature of the lower limbs	4625	MYH7	ORPHA:59135
HP:0001437	Abnormality of the musculature of the lower limbs	203859	ANO5	ORPHA:206549
HP:0001437	Abnormality of the musculature of the lower limbs	2318	FLNC	OMIM:614065
HP:0001437	Abnormality of the musculature of the lower limbs	10020	GNE	ORPHA:602
HP:0001437	Abnormality of the musculature of the lower limbs	26580	BSCL2	ORPHA:100998
HP:0001437	Abnormality of the musculature of the lower limbs	7415	VCP	ORPHA:329478
HP:0001437	Abnormality of the musculature of the lower limbs	22943	DKK1	ORPHA:268882
HP:0001437	Abnormality of the musculature of the lower limbs	57531	HACE1	ORPHA:464282
HP:0001437	Abnormality of the musculature of the lower limbs	6445	SGCG	ORPHA:353
HP:0001437	Abnormality of the musculature of the lower limbs	6445	SGCG	OMIM:253700
HP:0001437	Abnormality of the musculature of the lower limbs	29925	GMPPB	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	79147	FKRP	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	29954	POMT2	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	84197	POMK	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	55624	POMGNT1	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	10585	POMT1	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	1756	DMD	OMIM:300376
HP:0001437	Abnormality of the musculature of the lower limbs	1756	DMD	OMIM:310200
HP:0001437	Abnormality of the musculature of the lower limbs	1605	DAG1	ORPHA:280333
HP:0001437	Abnormality of the musculature of the lower limbs	22954	TRIM32	OMIM:254110
HP:0001437	Abnormality of the musculature of the lower limbs	5468	PPARG	ORPHA:79083
HP:0001437	Abnormality of the musculature of the lower limbs	859	CAV3	ORPHA:488650
HP:0001437	Abnormality of the musculature of the lower limbs	6443	SGCB	OMIM:604286
HP:0001437	Abnormality of the musculature of the lower limbs	4703	NEB	OMIM:256030
HP:0001437	Abnormality of the musculature of the lower limbs	6442	SGCA	ORPHA:62
HP:0001437	Abnormality of the musculature of the lower limbs	729920	CRPPA	ORPHA:352479
HP:0001437	Abnormality of the musculature of the lower limbs	9987	HNRNPDL	OMIM:609115
HP:0001437	Abnormality of the musculature of the lower limbs	1778	DYNC1H1	OMIM:158600
HP:0001437	Abnormality of the musculature of the lower limbs	203547	VMA21	OMIM:310440
HP:0001437	Abnormality of the musculature of the lower limbs	4747	NEFL	ORPHA:101085
HP:0001437	Abnormality of the musculature of the lower limbs	6607	SMN2	OMIM:253400
HP:0001437	Abnormality of the musculature of the lower limbs	2010	EMD	ORPHA:98863
HP:0001437	Abnormality of the musculature of the lower limbs	79188	TMEM43	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	23345	SYNE1	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	23224	SYNE2	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	2201	FBN2	OMIM:121050
HP:0001437	Abnormality of the musculature of the lower limbs	4000	LMNA	ORPHA:280365
HP:0001437	Abnormality of the musculature of the lower limbs	6736	SRY	ORPHA:1772
HP:0001437	Abnormality of the musculature of the lower limbs	5921	RASA1	ORPHA:90307
HP:0001437	Abnormality of the musculature of the lower limbs	1180	CLCN1	OMIM:255700
HP:0001437	Abnormality of the musculature of the lower limbs	9829	DNAJC6	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	5420	PODXL	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	8867	SYNJ1	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	8867	SYNJ1	OMIM:615530
HP:0001437	Abnormality of the musculature of the lower limbs	55129	ANO10	ORPHA:284289
HP:0001437	Abnormality of the musculature of the lower limbs	547	KIF1A	ORPHA:101010
HP:0001437	Abnormality of the musculature of the lower limbs	1410	CRYAB	OMIM:608810
HP:0001437	Abnormality of the musculature of the lower limbs	3798	KIF5A	ORPHA:100991
HP:0001437	Abnormality of the musculature of the lower limbs	5297	PI4KA	OMIM:619621
HP:0001437	Abnormality of the musculature of the lower limbs	23503	ZFYVE26	ORPHA:100996
HP:0001437	Abnormality of the musculature of the lower limbs	6683	SPAST	ORPHA:100985
HP:0001437	Abnormality of the musculature of the lower limbs	23400	ATP13A2	ORPHA:306674
HP:0001437	Abnormality of the musculature of the lower limbs	23400	ATP13A2	OMIM:606693
HP:0001437	Abnormality of the musculature of the lower limbs	215	ABCD1	ORPHA:139399
HP:0001437	Abnormality of the musculature of the lower limbs	55157	DARS2	ORPHA:137898
HP:0001437	Abnormality of the musculature of the lower limbs	4508	MT-ATP6	ORPHA:320360
HP:0001437	Abnormality of the musculature of the lower limbs	6843	VAMP1	OMIM:108600
HP:0001437	Abnormality of the musculature of the lower limbs	6843	VAMP1	ORPHA:251282
HP:0001437	Abnormality of the musculature of the lower limbs	11155	LDB3	ORPHA:98912
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	OMIM:603689
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	ORPHA:178464
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	OMIM:611705
HP:0001437	Abnormality of the musculature of the lower limbs	10367	MICU1	OMIM:615673
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:253800
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:611615
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:611588
HP:0001437	Abnormality of the musculature of the lower limbs	274	BIN1	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	64419	MTMR14	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	4618	MYF6	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	1785	DNM2	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	5339	PLEC	ORPHA:254361
HP:0001437	Abnormality of the musculature of the lower limbs	8291	DYSF	ORPHA:268
HP:0001437	Abnormality of the musculature of the lower limbs	8291	DYSF	ORPHA:45448
HP:0001437	Abnormality of the musculature of the lower limbs	825	CAPN3	ORPHA:267
HP:0001437	Abnormality of the musculature of the lower limbs	5346	PLIN1	ORPHA:280356
HP:0001437	Abnormality of the musculature of the lower limbs	6576	SLC25A1	OMIM:618197
HP:0001437	Abnormality of the musculature of the lower limbs	63924	CIDEC	ORPHA:435651
HP:0001437	Abnormality of the musculature of the lower limbs	400916	CHCHD10	OMIM:615048
HP:0001437	Abnormality of the musculature of the lower limbs	3736	KCNA1	ORPHA:37612
HP:0001437	Abnormality of the musculature of the lower limbs	9215	LARGE1	OMIM:608840
HP:0001437	Abnormality of the musculature of the lower limbs	9215	LARGE1	ORPHA:370968
HP:0001437	Abnormality of the musculature of the lower limbs	6444	SGCD	OMIM:601287
HP:0001437	Abnormality of the musculature of the lower limbs	2483	FRG1	OMIM:158900
HP:0001437	Abnormality of the musculature of the lower limbs	146862	UNC45B	OMIM:619178
HP:0001437	Abnormality of the musculature of the lower limbs	64208	POPDC3	OMIM:618848
HP:0001437	Abnormality of the musculature of the lower limbs	80208	SPG11	OMIM:616668
HP:0001437	Abnormality of the musculature of the lower limbs	55679	LIMS2	OMIM:616827
HP:0001437	Abnormality of the musculature of the lower limbs	84892	POMGNT2	OMIM:618135
HP:0001437	Abnormality of the musculature of the lower limbs	8557	TCAP	OMIM:601954
HP:0001437	Abnormality of the musculature of the lower limbs	54344	DPM3	ORPHA:263494
HP:0001437	Abnormality of the musculature of the lower limbs	51776	MAP3K20	OMIM:617760
HP:0001437	Abnormality of the musculature of the lower limbs	3908	LAMA2	OMIM:618138
HP:0001437	Abnormality of the musculature of the lower limbs	8449	DHX16	OMIM:618733
HP:0001437	Abnormality of the musculature of the lower limbs	367	AR	OMIM:313200
HP:0001437	Abnormality of the musculature of the lower limbs	8425	LTBP4	ORPHA:98896
HP:0001437	Abnormality of the musculature of the lower limbs	5376	PMP22	ORPHA:101081
HP:0001437	Abnormality of the musculature of the lower limbs	9897	WASHC5	ORPHA:100989
HP:0001437	Abnormality of the musculature of the lower limbs	3094	HINT1	ORPHA:324442
HP:0001437	Abnormality of the musculature of the lower limbs	65055	REEP1	OMIM:614751
HP:0001437	Abnormality of the musculature of the lower limbs	23230	VPS13A	ORPHA:2388
HP:0001437	Abnormality of the musculature of the lower limbs	1674	DES	OMIM:181400
HP:0001437	Abnormality of the musculature of the lower limbs	59341	TRPV4	OMIM:181405
HP:0001437	Abnormality of the musculature of the lower limbs	26278	SACS	OMIM:270550
HP:0001437	Abnormality of the musculature of the lower limbs	6606	SMN1	OMIM:271150
HP:0001437	Abnormality of the musculature of the lower limbs	122622	ADSS1	ORPHA:482601
HP:0001437	Abnormality of the musculature of the lower limbs	2273	FHL1	OMIM:300695
HP:0001437	Abnormality of the musculature of the lower limbs	4010	LMX1B	OMIM:161200
HP:0001437	Abnormality of the musculature of the lower limbs	6261	RYR1	ORPHA:597
HP:0001437	Abnormality of the musculature of the lower limbs	6261	RYR1	ORPHA:424107
HP:0001437	Abnormality of the musculature of the lower limbs	6261	RYR1	ORPHA:98905
HP:0001438	Abnormal abdomen morphology	3071	NCKAP1L	OMIM:618982
HP:0001438	Abnormal abdomen morphology	55823	VPS11	ORPHA:466934
HP:0001438	Abnormal abdomen morphology	5880	RAC2	OMIM:618986
HP:0001438	Abnormal abdomen morphology	4023	LPL	OMIM:238600
HP:0001438	Abnormal abdomen morphology	79722	ANKRD55	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	26191	PTPN22	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	919	CD247	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	919	CD247	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	3559	IL2RA	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	3559	IL2RA	OMIM:606367
HP:0001438	Abnormal abdomen morphology	5771	PTPN2	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	3459	IFNGR1	OMIM:209950
HP:0001438	Abnormal abdomen morphology	3716	JAK1	OMIM:618999
HP:0001438	Abnormal abdomen morphology	2122	MECOM	OMIM:616738
HP:0001438	Abnormal abdomen morphology	9382	COG1	ORPHA:263508
HP:0001438	Abnormal abdomen morphology	915	CD3D	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	916	CD3E	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	1777	DNASE2	OMIM:619858
HP:0001438	Abnormal abdomen morphology	3376	IARS1	ORPHA:541423
HP:0001438	Abnormal abdomen morphology	26154	ABCA12	OMIM:601277
HP:0001438	Abnormal abdomen morphology	7289	TULP3	OMIM:619902
HP:0001438	Abnormal abdomen morphology	672	BRCA1	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	285282	RABL3	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	7157	TP53	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	675	BRCA2	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	1029	CDKN2A	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	79728	PALB2	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	4089	SMAD4	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	23022	PALLD	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	9051	PSTPIP1	OMIM:604416
HP:0001438	Abnormal abdomen morphology	970	CD70	OMIM:618261
HP:0001438	Abnormal abdomen morphology	10043	TOM1	ORPHA:391487
HP:0001438	Abnormal abdomen morphology	3572	IL6ST	OMIM:619750
HP:0001438	Abnormal abdomen morphology	6774	STAT3	OMIM:615952
HP:0001438	Abnormal abdomen morphology	8517	IKBKG	OMIM:301081
HP:0001438	Abnormal abdomen morphology	2263	FGFR2	OMIM:614592
HP:0001438	Abnormal abdomen morphology	2263	FGFR2	ORPHA:313855
HP:0001438	Abnormal abdomen morphology	5788	PTPRC	OMIM:619924
HP:0001438	Abnormal abdomen morphology	9371	KIF3B	OMIM:618955
HP:0001438	Abnormal abdomen morphology	5294	PIK3CG	OMIM:619802
HP:0001438	Abnormal abdomen morphology	2729	GCLC	ORPHA:33574
HP:0001438	Abnormal abdomen morphology	3718	JAK3	ORPHA:35078
HP:0001438	Abnormal abdomen morphology	84868	HAVCR2	ORPHA:86884
HP:0001438	Abnormal abdomen morphology	2193	FARSA	OMIM:619013
HP:0001438	Abnormal abdomen morphology	3458	IFNG	OMIM:618963
HP:0001438	Abnormal abdomen morphology	9939	RBM8A	OMIM:274000
HP:0001438	Abnormal abdomen morphology	84153	RNASEH2C	OMIM:610329
HP:0001438	Abnormal abdomen morphology	84153	RNASEH2C	ORPHA:51
HP:0001438	Abnormal abdomen morphology	1513	CTSK	ORPHA:763
HP:0001438	Abnormal abdomen morphology	25939	SAMHD1	ORPHA:51
HP:0001438	Abnormal abdomen morphology	79621	RNASEH2B	ORPHA:51
HP:0001438	Abnormal abdomen morphology	134353	LSM11	ORPHA:51
HP:0001438	Abnormal abdomen morphology	6006	RHCE	ORPHA:71275
HP:0001438	Abnormal abdomen morphology	6711	SPTBN1	OMIM:619475
HP:0001438	Abnormal abdomen morphology	2934	GSN	OMIM:105120
HP:0001438	Abnormal abdomen morphology	157570	ESCO2	OMIM:216100
HP:0001438	Abnormal abdomen morphology	57192	MCOLN1	OMIM:252650
HP:0001438	Abnormal abdomen morphology	10159	ATP6AP2	OMIM:301045
HP:0001438	Abnormal abdomen morphology	83483	PLVAP	OMIM:618183
HP:0001438	Abnormal abdomen morphology	171023	ASXL1	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	54790	TET2	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	867	CBL	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	861	RUNX1	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	6427	SRSF2	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	51422	PRKAG2	OMIM:261740
HP:0001438	Abnormal abdomen morphology	10112	KIF20A	OMIM:619433
HP:0001438	Abnormal abdomen morphology	9780	PIEZO1	OMIM:616843
HP:0001438	Abnormal abdomen morphology	2632	GBE1	OMIM:232500
HP:0001438	Abnormal abdomen morphology	8425	LTBP4	OMIM:613177
HP:0001438	Abnormal abdomen morphology	25821	MTO1	OMIM:614702
HP:0001438	Abnormal abdomen morphology	3932	LCK	OMIM:615758
HP:0001438	Abnormal abdomen morphology	3875	KRT18	OMIM:215600
HP:0001438	Abnormal abdomen morphology	6775	STAT4	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	6696	SPP1	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	3654	IRAK1	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	79796	ALG9	OMIM:608776
HP:0001438	Abnormal abdomen morphology	1776	DNASE1L3	ORPHA:36412
HP:0001438	Abnormal abdomen morphology	4758	NEU1	OMIM:256550
HP:0001438	Abnormal abdomen morphology	4758	NEU1	ORPHA:93400
HP:0001438	Abnormal abdomen morphology	2629	GBA1	OMIM:608013
HP:0001438	Abnormal abdomen morphology	2629	GBA1	ORPHA:77259
HP:0001438	Abnormal abdomen morphology	5314	PKHD1	ORPHA:53035
HP:0001438	Abnormal abdomen morphology	5314	PKHD1	ORPHA:731
HP:0001438	Abnormal abdomen morphology	56945	MRPS22	OMIM:611719
HP:0001438	Abnormal abdomen morphology	197131	UBR1	OMIM:243800
HP:0001438	Abnormal abdomen morphology	23395	LARS2	OMIM:617021
HP:0001438	Abnormal abdomen morphology	939	CD27	OMIM:615122
HP:0001438	Abnormal abdomen morphology	2130	EWSR1	ORPHA:83469
HP:0001438	Abnormal abdomen morphology	7490	WT1	ORPHA:83469
HP:0001438	Abnormal abdomen morphology	2050	EPHB4	OMIM:617300
HP:0001438	Abnormal abdomen morphology	23426	GRIP1	OMIM:617667
HP:0001438	Abnormal abdomen morphology	54345	SOX18	ORPHA:69735
HP:0001438	Abnormal abdomen morphology	10216	PRG4	ORPHA:2848
HP:0001438	Abnormal abdomen morphology	7248	TSC1	ORPHA:538
HP:0001438	Abnormal abdomen morphology	7249	TSC2	ORPHA:538
HP:0001438	Abnormal abdomen morphology	3930	LBR	ORPHA:779
HP:0001438	Abnormal abdomen morphology	2592	GALT	ORPHA:79239
HP:0001438	Abnormal abdomen morphology	427	ASAH1	ORPHA:333
HP:0001438	Abnormal abdomen morphology	51473	DCDC2	OMIM:617394
HP:0001438	Abnormal abdomen morphology	51473	DCDC2	ORPHA:84081
HP:0001438	Abnormal abdomen morphology	2859	GPR35	ORPHA:171
HP:0001438	Abnormal abdomen morphology	10507	SEMA4D	ORPHA:171
HP:0001438	Abnormal abdomen morphology	4485	MST1	ORPHA:171
HP:0001438	Abnormal abdomen morphology	6925	TCF4	ORPHA:171
HP:0001438	Abnormal abdomen morphology	50619	DEF6	OMIM:619573
HP:0001438	Abnormal abdomen morphology	7019	TFAM	OMIM:617156
HP:0001438	Abnormal abdomen morphology	11274	USP18	OMIM:617397
HP:0001438	Abnormal abdomen morphology	4358	MPV17	OMIM:256810
HP:0001438	Abnormal abdomen morphology	55109	AGGF1	ORPHA:90308
HP:0001438	Abnormal abdomen morphology	2492	FSHR	OMIM:608115
HP:0001438	Abnormal abdomen morphology	2492	FSHR	ORPHA:64739
HP:0001438	Abnormal abdomen morphology	3431	SP110	ORPHA:79124
HP:0001438	Abnormal abdomen morphology	1716	DGUOK	OMIM:251880
HP:0001438	Abnormal abdomen morphology	9184	BUB3	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	699	BUB1	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	9702	CEP57	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	9319	TRIP13	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	701	BUB1B	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	55340	GIMAP5	OMIM:619463
HP:0001438	Abnormal abdomen morphology	4591	TRIM37	OMIM:253250
HP:0001438	Abnormal abdomen morphology	9971	NR1H4	OMIM:617049
HP:0001438	Abnormal abdomen morphology	9971	NR1H4	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	79053	ALG8	OMIM:608104
HP:0001438	Abnormal abdomen morphology	79053	ALG8	ORPHA:79325
HP:0001438	Abnormal abdomen morphology	63901	FAM111A	OMIM:602361
HP:0001438	Abnormal abdomen morphology	2313	FLI1	ORPHA:370348
HP:0001438	Abnormal abdomen morphology	3077	HFE	OMIM:235200
HP:0001438	Abnormal abdomen morphology	650	BMP2	OMIM:235200
HP:0001438	Abnormal abdomen morphology	129563	DIS3L2	OMIM:267000
HP:0001438	Abnormal abdomen morphology	4607	MYBPC3	OMIM:115197
HP:0001438	Abnormal abdomen morphology	5167	ENPP1	ORPHA:51608
HP:0001438	Abnormal abdomen morphology	368	ABCC6	ORPHA:51608
HP:0001438	Abnormal abdomen morphology	54914	FOCAD	OMIM:619991
HP:0001438	Abnormal abdomen morphology	222546	RFX6	OMIM:615710
HP:0001438	Abnormal abdomen morphology	9508	ADAMTS3	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	147372	CCBE1	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	79633	FAT4	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	10056	FARSB	OMIM:613658
HP:0001438	Abnormal abdomen morphology	5428	POLG	OMIM:203700
HP:0001438	Abnormal abdomen morphology	5589	PRKCSH	OMIM:174050
HP:0001438	Abnormal abdomen morphology	6609	SMPD1	OMIM:257200
HP:0001438	Abnormal abdomen morphology	4210	MEFV	ORPHA:342
HP:0001438	Abnormal abdomen morphology	2990	GUSB	ORPHA:584
HP:0001438	Abnormal abdomen morphology	81	ACTN4	OMIM:603278
HP:0001438	Abnormal abdomen morphology	5244	ABCB4	OMIM:602347
HP:0001438	Abnormal abdomen morphology	5244	ABCB4	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	3594	IL12RB1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	23534	TNPO3	ORPHA:186
HP:0001438	Abnormal abdomen morphology	3592	IL12A	ORPHA:186
HP:0001438	Abnormal abdomen morphology	6689	SPIB	ORPHA:186
HP:0001438	Abnormal abdomen morphology	5450	POU2AF1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	9966	TNFSF15	ORPHA:186
HP:0001438	Abnormal abdomen morphology	79258	MMEL1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	3663	IRF5	ORPHA:186
HP:0001438	Abnormal abdomen morphology	100147744	RNU7-1	OMIM:619487
HP:0001438	Abnormal abdomen morphology	5205	ATP8B1	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	8647	ABCB11	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	202018	TAPT1	OMIM:616897
HP:0001438	Abnormal abdomen morphology	91147	TMEM67	ORPHA:84081
HP:0001438	Abnormal abdomen morphology	5573	PRKAR1A	ORPHA:615
HP:0001438	Abnormal abdomen morphology	540	ATP7B	OMIM:277900
HP:0001438	Abnormal abdomen morphology	3516	RBPJ	ORPHA:974
HP:0001438	Abnormal abdomen morphology	4851	NOTCH1	ORPHA:974
HP:0001438	Abnormal abdomen morphology	57514	ARHGAP31	ORPHA:974
HP:0001438	Abnormal abdomen morphology	57572	DOCK6	ORPHA:974
HP:0001438	Abnormal abdomen morphology	285203	EOGT	ORPHA:974
HP:0001438	Abnormal abdomen morphology	54567	DLL4	ORPHA:974
HP:0001438	Abnormal abdomen morphology	199221	DZIP1L	ORPHA:731
HP:0001438	Abnormal abdomen morphology	2767	GNA11	ORPHA:1556
HP:0001438	Abnormal abdomen morphology	151188	ARL6IP6	ORPHA:1556
HP:0001438	Abnormal abdomen morphology	2271	FH	OMIM:606812
HP:0001438	Abnormal abdomen morphology	3988	LIPA	ORPHA:75233
HP:0001438	Abnormal abdomen morphology	811	CALR	ORPHA:131
HP:0001438	Abnormal abdomen morphology	3717	JAK2	ORPHA:131
HP:0001438	Abnormal abdomen morphology	2153	F5	ORPHA:131
HP:0001438	Abnormal abdomen morphology	79989	IFT56	OMIM:619534
HP:0001438	Abnormal abdomen morphology	26503	SLC17A5	OMIM:269920
HP:0001438	Abnormal abdomen morphology	79651	RHBDF2	ORPHA:2198
HP:0001438	Abnormal abdomen morphology	2184	FAH	OMIM:276700
HP:0001438	Abnormal abdomen morphology	2072	ERCC4	OMIM:610965
HP:0001438	Abnormal abdomen morphology	55901	THSD1	OMIM:620244
HP:0001438	Abnormal abdomen morphology	9451	EIF2AK3	ORPHA:1667
HP:0001438	Abnormal abdomen morphology	28962	OSTM1	OMIM:259720
HP:0001438	Abnormal abdomen morphology	57539	WDR35	OMIM:614091
HP:0001438	Abnormal abdomen morphology	1536	CYBB	OMIM:306400
HP:0001438	Abnormal abdomen morphology	1604	CD55	OMIM:226300
HP:0001438	Abnormal abdomen morphology	5277	PIGA	OMIM:301072
HP:0001438	Abnormal abdomen morphology	950	SCARB2	ORPHA:77259
HP:0001438	Abnormal abdomen morphology	7293	TNFRSF4	OMIM:615593
HP:0001438	Abnormal abdomen morphology	8573	CASK	OMIM:300908
HP:0001438	Abnormal abdomen morphology	2539	G6PD	OMIM:300908
HP:0001438	Abnormal abdomen morphology	4860	PNP	OMIM:613179
HP:0001438	Abnormal abdomen morphology	755	CFAP410	OMIM:602271
HP:0001438	Abnormal abdomen morphology	84433	CARD11	OMIM:616452
HP:0001438	Abnormal abdomen morphology	10730	YME1L1	OMIM:617302
HP:0001438	Abnormal abdomen morphology	1441	CSF3R	OMIM:162830
HP:0001438	Abnormal abdomen morphology	2035	EPB41	ORPHA:288
HP:0001438	Abnormal abdomen morphology	2035	EPB41	OMIM:611804
HP:0001438	Abnormal abdomen morphology	2995	GYPC	ORPHA:288
HP:0001438	Abnormal abdomen morphology	2623	GATA1	OMIM:314050
HP:0001438	Abnormal abdomen morphology	2623	GATA1	ORPHA:231393
HP:0001438	Abnormal abdomen morphology	2623	GATA1	ORPHA:79277
HP:0001438	Abnormal abdomen morphology	80739	MPIG6B	OMIM:617441
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:133100
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	ORPHA:3318
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:187950
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:254450
HP:0001438	Abnormal abdomen morphology	2057	EPOR	OMIM:133100
HP:0001438	Abnormal abdomen morphology	595	CCND1	ORPHA:29073
HP:0001438	Abnormal abdomen morphology	595	CCND1	ORPHA:52416
HP:0001438	Abnormal abdomen morphology	27125	AFF4	OMIM:616368
HP:0001438	Abnormal abdomen morphology	5295	PIK3R1	OMIM:616005
HP:0001438	Abnormal abdomen morphology	54532	USP53	OMIM:619658
HP:0001438	Abnormal abdomen morphology	64127	NOD2	ORPHA:90340
HP:0001438	Abnormal abdomen morphology	54903	MKS1	OMIM:249000
HP:0001438	Abnormal abdomen morphology	149233	IL23R	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3586	IL10	ORPHA:117
HP:0001438	Abnormal abdomen morphology	1230	CCR1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3106	HLA-B	ORPHA:117
HP:0001438	Abnormal abdomen morphology	7099	TLR4	ORPHA:117
HP:0001438	Abnormal abdomen morphology	720	C4A	ORPHA:117
HP:0001438	Abnormal abdomen morphology	337867	UBAC2	ORPHA:117
HP:0001438	Abnormal abdomen morphology	51752	ERAP1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	8302	KLRC4	ORPHA:117
HP:0001438	Abnormal abdomen morphology	5290	PIK3CA	OMIM:612918
HP:0001438	Abnormal abdomen morphology	22806	IKZF3	OMIM:619437
HP:0001438	Abnormal abdomen morphology	6916	TBXAS1	ORPHA:1802
HP:0001438	Abnormal abdomen morphology	596	BCL2	ORPHA:545
HP:0001438	Abnormal abdomen morphology	3492	IGH	ORPHA:545
HP:0001438	Abnormal abdomen morphology	3492	IGH	ORPHA:52416
HP:0001438	Abnormal abdomen morphology	604	BCL6	ORPHA:545
HP:0001438	Abnormal abdomen morphology	53335	BCL11A	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	5009	OTC	ORPHA:664
HP:0001438	Abnormal abdomen morphology	7372	UMPS	ORPHA:30
HP:0001438	Abnormal abdomen morphology	58484	NLRC4	OMIM:616050
HP:0001438	Abnormal abdomen morphology	23218	NBEAL2	OMIM:139090
HP:0001438	Abnormal abdomen morphology	23218	NBEAL2	ORPHA:721
HP:0001438	Abnormal abdomen morphology	1312	COMT	ORPHA:567
HP:0001438	Abnormal abdomen morphology	221037	JMJD1C	ORPHA:567
HP:0001438	Abnormal abdomen morphology	2812	GP1BB	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6239	RREB1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6899	TBX1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6899	TBX1	OMIM:188400
HP:0001438	Abnormal abdomen morphology	7290	HIRA	ORPHA:567
HP:0001438	Abnormal abdomen morphology	9632	SEC24C	ORPHA:567
HP:0001438	Abnormal abdomen morphology	7353	UFD1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	421	ARVCF	ORPHA:567
HP:0001438	Abnormal abdomen morphology	7389	UROD	ORPHA:95159
HP:0001438	Abnormal abdomen morphology	212	ALAS2	ORPHA:75563
HP:0001438	Abnormal abdomen morphology	51095	TRNT1	OMIM:616084
HP:0001438	Abnormal abdomen morphology	207	AKT1	ORPHA:744
HP:0001438	Abnormal abdomen morphology	207	AKT1	OMIM:176920
HP:0001438	Abnormal abdomen morphology	10483	SEC23B	OMIM:224100
HP:0001438	Abnormal abdomen morphology	60468	BACH2	OMIM:618394
HP:0001438	Abnormal abdomen morphology	91662	NLRP12	OMIM:611762
HP:0001438	Abnormal abdomen morphology	5264	PHYH	ORPHA:773
HP:0001438	Abnormal abdomen morphology	5191	PEX7	ORPHA:773
HP:0001438	Abnormal abdomen morphology	4938	OAS1	OMIM:618042
HP:0001438	Abnormal abdomen morphology	6850	SYK	OMIM:619381
HP:0001438	Abnormal abdomen morphology	613	BCR	ORPHA:521
HP:0001438	Abnormal abdomen morphology	25	ABL1	ORPHA:521
HP:0001438	Abnormal abdomen morphology	7066	THPO	ORPHA:71493
HP:0001438	Abnormal abdomen morphology	7066	THPO	OMIM:187950
HP:0001438	Abnormal abdomen morphology	2811	GP1BA	OMIM:153670
HP:0001438	Abnormal abdomen morphology	673	BRAF	OMIM:115150
HP:0001438	Abnormal abdomen morphology	987	LRBA	OMIM:614700
HP:0001438	Abnormal abdomen morphology	23149	FCHO1	OMIM:619164
HP:0001438	Abnormal abdomen morphology	1352	COX10	OMIM:619046
HP:0001438	Abnormal abdomen morphology	841	CASP8	OMIM:607271
HP:0001438	Abnormal abdomen morphology	80216	ALPK1	OMIM:614979
HP:0001438	Abnormal abdomen morphology	472	ATM	ORPHA:52416
HP:0001438	Abnormal abdomen morphology	50943	FOXP3	ORPHA:37042
HP:0001438	Abnormal abdomen morphology	50628	GEMIN4	OMIM:617913
HP:0001438	Abnormal abdomen morphology	64241	ABCG8	OMIM:210250
HP:0001438	Abnormal abdomen morphology	219285	SAMD9L	ORPHA:2585
HP:0001438	Abnormal abdomen morphology	7167	TPI1	OMIM:615512
HP:0001438	Abnormal abdomen morphology	79848	CSPP1	OMIM:615636
HP:0001438	Abnormal abdomen morphology	5293	PIK3CD	OMIM:615513
HP:0001438	Abnormal abdomen morphology	669	BPGM	OMIM:222800
HP:0001438	Abnormal abdomen morphology	9948	WDR1	OMIM:150550
HP:0001438	Abnormal abdomen morphology	2821	GPI	OMIM:613470
HP:0001438	Abnormal abdomen morphology	4790	NFKB1	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	4791	NFKB2	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	8742	TNFSF12	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	931	MS4A1	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	359948	IRF2BP2	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	2328	FMO3	OMIM:602079
HP:0001438	Abnormal abdomen morphology	1718	DHCR24	ORPHA:35107
HP:0001438	Abnormal abdomen morphology	3098	HK1	OMIM:235700
HP:0001438	Abnormal abdomen morphology	27040	LAT	OMIM:617514
HP:0001438	Abnormal abdomen morphology	81570	CLPB	OMIM:619813
HP:0001438	Abnormal abdomen morphology	10464	PIBF1	OMIM:617767
HP:0001438	Abnormal abdomen morphology	6929	TCF3	OMIM:619824
HP:0001438	Abnormal abdomen morphology	2783	GNB2	OMIM:619503
HP:0001438	Abnormal abdomen morphology	10577	NPC2	OMIM:607625
HP:0001438	Abnormal abdomen morphology	3295	HSD17B4	OMIM:261515
HP:0001438	Abnormal abdomen morphology	29969	MDFIC	OMIM:620014
HP:0001438	Abnormal abdomen morphology	4864	NPC1	OMIM:257220
HP:0001438	Abnormal abdomen morphology	5745	PTH1R	OMIM:215045
HP:0001438	Abnormal abdomen morphology	6007	RHD	OMIM:619462
HP:0001438	Abnormal abdomen morphology	1984	EIF5A	OMIM:619376
HP:0001438	Abnormal abdomen morphology	1374	CPT1A	ORPHA:156
HP:0001438	Abnormal abdomen morphology	1374	CPT1A	OMIM:255120
HP:0001438	Abnormal abdomen morphology	2137	EXTL3	ORPHA:508533
HP:0001438	Abnormal abdomen morphology	3561	IL2RG	ORPHA:276
HP:0001438	Abnormal abdomen morphology	3561	IL2RG	OMIM:300400
HP:0001438	Abnormal abdomen morphology	3561	IL2RG	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	6584	SLC22A5	ORPHA:158
HP:0001438	Abnormal abdomen morphology	6584	SLC22A5	OMIM:212140
HP:0001438	Abnormal abdomen morphology	1497	CTNS	OMIM:219800
HP:0001438	Abnormal abdomen morphology	875	CBS	ORPHA:394
HP:0001438	Abnormal abdomen morphology	54539	NDUFB11	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	25915	NDUFAF3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51103	NDUFAF1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51103	NDUFAF1	OMIM:618234
HP:0001438	Abnormal abdomen morphology	91942	NDUFAF2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51300	TIMMDC1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4716	NDUFB10	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4723	NDUFV1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	55572	FOXRED1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	284184	NDUFAF8	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	55863	TMEM126B	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4535	MT-ND1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4535	MT-ND1	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4537	MT-ND3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4537	MT-ND3	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4729	NDUFV2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4694	NDUFA1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4720	NDUFS2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4724	NDUFS4	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4724	NDUFS4	OMIM:252010
HP:0001438	Abnormal abdomen morphology	4726	NDUFS6	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4728	NDUFS8	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4722	NDUFS3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	79133	NDUFAF5	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	126328	NDUFA11	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4709	NDUFB3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	80224	NUBPL	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	29078	NDUFAF4	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	374291	NDUFS7	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	374291	NDUFS7	OMIM:618224
HP:0001438	Abnormal abdomen morphology	4700	NDUFA6	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4536	MT-ND2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4536	MT-ND2	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4719	NDUFS1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4719	NDUFS1	OMIM:618226
HP:0001438	Abnormal abdomen morphology	4715	NDUFB9	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	229	ALDOB	OMIM:229600
HP:0001438	Abnormal abdomen morphology	229	ALDOB	ORPHA:469
HP:0001438	Abnormal abdomen morphology	57128	LYRM4	OMIM:615595
HP:0001438	Abnormal abdomen morphology	5728	PTEN	OMIM:605309
HP:0001438	Abnormal abdomen morphology	3783	KCNN4	OMIM:616689
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	ORPHA:90324
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	ORPHA:90321
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	ORPHA:90322
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	OMIM:216400
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	ORPHA:90324
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	ORPHA:90321
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	ORPHA:90322
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	OMIM:133540
HP:0001438	Abnormal abdomen morphology	55240	STEAP3	OMIM:615234
HP:0001438	Abnormal abdomen morphology	60684	TRAPPC11	OMIM:615356
HP:0001438	Abnormal abdomen morphology	60684	TRAPPC11	ORPHA:369840
HP:0001438	Abnormal abdomen morphology	19	ABCA1	OMIM:205400
HP:0001438	Abnormal abdomen morphology	63924	CIDEC	OMIM:615238
HP:0001438	Abnormal abdomen morphology	63924	CIDEC	ORPHA:435651
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230600
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230650
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230500
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:253010
HP:0001438	Abnormal abdomen morphology	84334	COA8	ORPHA:436271
HP:0001438	Abnormal abdomen morphology	148738	HJV	OMIM:602390
HP:0001438	Abnormal abdomen morphology	5830	PEX5	OMIM:214110
HP:0001438	Abnormal abdomen morphology	5830	PEX5	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5830	PEX5	ORPHA:912
HP:0001438	Abnormal abdomen morphology	51	ACOX1	ORPHA:2971
HP:0001438	Abnormal abdomen morphology	51	ACOX1	OMIM:264470
HP:0001438	Abnormal abdomen morphology	80270	HSD3B7	ORPHA:79301
HP:0001438	Abnormal abdomen morphology	80270	HSD3B7	OMIM:607765
HP:0001438	Abnormal abdomen morphology	51099	ABHD5	OMIM:275630
HP:0001438	Abnormal abdomen morphology	51099	ABHD5	ORPHA:98907
HP:0001438	Abnormal abdomen morphology	6718	AKR1D1	ORPHA:79303
HP:0001438	Abnormal abdomen morphology	6718	AKR1D1	OMIM:235555
HP:0001438	Abnormal abdomen morphology	2067	ERCC1	ORPHA:90322
HP:0001438	Abnormal abdomen morphology	4538	MT-ND4	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4567	MT-TL1	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4578	MT-TW	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4577	MT-TV	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4508	MT-ATP6	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4540	MT-ND5	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4541	MT-ND6	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4566	MT-TK	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4233	MET	ORPHA:33402
HP:0001438	Abnormal abdomen morphology	1499	CTNNB1	ORPHA:33402
HP:0001438	Abnormal abdomen morphology	4141	MARS1	OMIM:615486
HP:0001438	Abnormal abdomen morphology	3162	HMOX1	OMIM:614034
HP:0001438	Abnormal abdomen morphology	5184	PEPD	OMIM:170100
HP:0001438	Abnormal abdomen morphology	5184	PEPD	ORPHA:742
HP:0001438	Abnormal abdomen morphology	65082	VPS33A	OMIM:617303
HP:0001438	Abnormal abdomen morphology	84936	ZFYVE19	OMIM:619849
HP:0001438	Abnormal abdomen morphology	4000	LMNA	OMIM:248370
HP:0001438	Abnormal abdomen morphology	4000	LMNA	ORPHA:280365
HP:0001438	Abnormal abdomen morphology	4000	LMNA	ORPHA:79084
HP:0001438	Abnormal abdomen morphology	4000	LMNA	ORPHA:2348
HP:0001438	Abnormal abdomen morphology	4000	LMNA	OMIM:151660
HP:0001438	Abnormal abdomen morphology	55768	NGLY1	ORPHA:404454
HP:0001438	Abnormal abdomen morphology	55768	NGLY1	OMIM:615273
HP:0001438	Abnormal abdomen morphology	79158	GNPTAB	OMIM:252500
HP:0001438	Abnormal abdomen morphology	7086	TKT	ORPHA:488618
HP:0001438	Abnormal abdomen morphology	4688	NCF2	ORPHA:379
HP:0001438	Abnormal abdomen morphology	4688	NCF2	OMIM:233710
HP:0001438	Abnormal abdomen morphology	1535	CYBA	ORPHA:379
HP:0001438	Abnormal abdomen morphology	1535	CYBA	OMIM:233690
HP:0001438	Abnormal abdomen morphology	4689	NCF4	ORPHA:379
HP:0001438	Abnormal abdomen morphology	653361	NCF1	ORPHA:379
HP:0001438	Abnormal abdomen morphology	653361	NCF1	OMIM:233700
HP:0001438	Abnormal abdomen morphology	79415	CYBC1	ORPHA:379
HP:0001438	Abnormal abdomen morphology	5189	PEX1	OMIM:214100
HP:0001438	Abnormal abdomen morphology	5189	PEX1	OMIM:601539
HP:0001438	Abnormal abdomen morphology	5189	PEX1	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5189	PEX1	ORPHA:912
HP:0001438	Abnormal abdomen morphology	2212	FCGR2A	OMIM:219700
HP:0001438	Abnormal abdomen morphology	7040	TGFB1	OMIM:219700
HP:0001438	Abnormal abdomen morphology	7040	TGFB1	ORPHA:1328
HP:0001438	Abnormal abdomen morphology	1080	CFTR	OMIM:219700
HP:0001438	Abnormal abdomen morphology	6023	RMRP	ORPHA:175
HP:0001438	Abnormal abdomen morphology	6023	RMRP	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	55687	TRMU	OMIM:613070
HP:0001438	Abnormal abdomen morphology	55687	TRMU	ORPHA:254864
HP:0001438	Abnormal abdomen morphology	6772	STAT1	OMIM:614162
HP:0001438	Abnormal abdomen morphology	23495	TNFRSF13B	OMIM:240500
HP:0001438	Abnormal abdomen morphology	115650	TNFRSF13C	OMIM:240500
HP:0001438	Abnormal abdomen morphology	1380	CR2	OMIM:240500
HP:0001438	Abnormal abdomen morphology	29851	ICOS	OMIM:240500
HP:0001438	Abnormal abdomen morphology	29851	ICOS	OMIM:607594
HP:0001438	Abnormal abdomen morphology	930	CD19	OMIM:240500
HP:0001438	Abnormal abdomen morphology	60561	RINT1	OMIM:618641
HP:0001438	Abnormal abdomen morphology	5105	PCK1	OMIM:261680
HP:0001438	Abnormal abdomen morphology	103	ADAR	OMIM:615010
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	OMIM:616100
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	130589	GALM	OMIM:618881
HP:0001438	Abnormal abdomen morphology	130589	GALM	ORPHA:570422
HP:0001438	Abnormal abdomen morphology	91869	RFT1	ORPHA:244310
HP:0001438	Abnormal abdomen morphology	91869	RFT1	OMIM:612015
HP:0001438	Abnormal abdomen morphology	11232	POLG2	OMIM:618528
HP:0001438	Abnormal abdomen morphology	5155	PDGFB	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	9213	XPR1	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	5159	PDGFRB	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	57462	MYORG	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	6575	SLC20A2	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	58494	JAM2	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	5424	POLD1	OMIM:615381
HP:0001438	Abnormal abdomen morphology	57231	SNX14	OMIM:616354
HP:0001438	Abnormal abdomen morphology	28755	TRAC	OMIM:615387
HP:0001438	Abnormal abdomen morphology	1371	CPOX	OMIM:618892
HP:0001438	Abnormal abdomen morphology	1371	CPOX	OMIM:121300
HP:0001438	Abnormal abdomen morphology	388962	BOLA3	OMIM:614299
HP:0001438	Abnormal abdomen morphology	4645	MYO5B	OMIM:619868
HP:0001438	Abnormal abdomen morphology	788	SLC25A20	ORPHA:159
HP:0001438	Abnormal abdomen morphology	788	SLC25A20	OMIM:212138
HP:0001438	Abnormal abdomen morphology	5373	PMM2	OMIM:212065
HP:0001438	Abnormal abdomen morphology	3039	HBA1	ORPHA:163596
HP:0001438	Abnormal abdomen morphology	3039	HBA1	OMIM:613978
HP:0001438	Abnormal abdomen morphology	3040	HBA2	ORPHA:163596
HP:0001438	Abnormal abdomen morphology	3040	HBA2	OMIM:613978
HP:0001438	Abnormal abdomen morphology	1244	ABCC2	ORPHA:234
HP:0001438	Abnormal abdomen morphology	9056	SLC7A7	ORPHA:470
HP:0001438	Abnormal abdomen morphology	9056	SLC7A7	OMIM:222700
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	OMIM:618541
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	ORPHA:667
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	OMIM:611490
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231214
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231222
HP:0001438	Abnormal abdomen morphology	3043	HBB	OMIM:603903
HP:0001438	Abnormal abdomen morphology	3043	HBB	OMIM:603902
HP:0001438	Abnormal abdomen morphology	10661	KLF1	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	10661	KLF1	OMIM:613673
HP:0001438	Abnormal abdomen morphology	3047	HBG1	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3048	HBG2	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3048	HBG2	OMIM:613977
HP:0001438	Abnormal abdomen morphology	5311	PKD2	OMIM:613095
HP:0001438	Abnormal abdomen morphology	8482	SEMA7A	OMIM:619874
HP:0001438	Abnormal abdomen morphology	2200	FBN1	OMIM:614185
HP:0001438	Abnormal abdomen morphology	10068	IL18BP	OMIM:618549
HP:0001438	Abnormal abdomen morphology	7381	UQCRB	OMIM:615158
HP:0001438	Abnormal abdomen morphology	5836	PYGL	OMIM:232700
HP:0001438	Abnormal abdomen morphology	5836	PYGL	ORPHA:369
HP:0001438	Abnormal abdomen morphology	54440	SASH3	OMIM:301082
HP:0001438	Abnormal abdomen morphology	2517	FUCA1	ORPHA:349
HP:0001438	Abnormal abdomen morphology	2517	FUCA1	OMIM:230000
HP:0001438	Abnormal abdomen morphology	285362	SUMF1	OMIM:272200
HP:0001438	Abnormal abdomen morphology	285362	SUMF1	ORPHA:585
HP:0001438	Abnormal abdomen morphology	2203	FBP1	ORPHA:348
HP:0001438	Abnormal abdomen morphology	2203	FBP1	OMIM:229700
HP:0001438	Abnormal abdomen morphology	166785	MMAA	OMIM:251100
HP:0001438	Abnormal abdomen morphology	85365	ALG2	ORPHA:79326
HP:0001438	Abnormal abdomen morphology	85365	ALG2	OMIM:607906
HP:0001438	Abnormal abdomen morphology	4598	MVK	ORPHA:343
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	OMIM:603554
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	OMIM:602450
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	5896	RAG1	OMIM:603554
HP:0001438	Abnormal abdomen morphology	5896	RAG1	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	5896	RAG1	ORPHA:331206
HP:0001438	Abnormal abdomen morphology	5897	RAG2	OMIM:603554
HP:0001438	Abnormal abdomen morphology	5897	RAG2	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	5897	RAG2	ORPHA:331206
HP:0001438	Abnormal abdomen morphology	5551	PRF1	OMIM:603553
HP:0001438	Abnormal abdomen morphology	5551	PRF1	ORPHA:540
HP:0001438	Abnormal abdomen morphology	8676	STX11	OMIM:603552
HP:0001438	Abnormal abdomen morphology	8676	STX11	ORPHA:540
HP:0001438	Abnormal abdomen morphology	57169	ZNFX1	OMIM:619644
HP:0001438	Abnormal abdomen morphology	11311	VPS45	OMIM:615285
HP:0001438	Abnormal abdomen morphology	10991	SLC38A3	OMIM:619881
HP:0001438	Abnormal abdomen morphology	11231	SEC63	ORPHA:2924
HP:0001438	Abnormal abdomen morphology	11231	SEC63	OMIM:617004
HP:0001438	Abnormal abdomen morphology	4041	LRP5	ORPHA:2924
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	OMIM:619525
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	OMIM:232220
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	OMIM:232240
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	ORPHA:79259
HP:0001438	Abnormal abdomen morphology	7841	MOGS	ORPHA:79330
HP:0001438	Abnormal abdomen morphology	7841	MOGS	OMIM:606056
HP:0001438	Abnormal abdomen morphology	2683	B4GALT1	ORPHA:79332
HP:0001438	Abnormal abdomen morphology	91949	COG7	ORPHA:79333
HP:0001438	Abnormal abdomen morphology	91949	COG7	OMIM:608779
HP:0001438	Abnormal abdomen morphology	57104	PNPLA2	OMIM:610717
HP:0001438	Abnormal abdomen morphology	57104	PNPLA2	ORPHA:565612
HP:0001438	Abnormal abdomen morphology	57104	PNPLA2	ORPHA:98908
HP:0001438	Abnormal abdomen morphology	38	ACAT1	ORPHA:134
HP:0001438	Abnormal abdomen morphology	9968	MED12	OMIM:301068
HP:0001438	Abnormal abdomen morphology	4351	MPI	ORPHA:79319
HP:0001438	Abnormal abdomen morphology	4351	MPI	OMIM:602579
HP:0001438	Abnormal abdomen morphology	7030	TFE3	OMIM:301066
HP:0001438	Abnormal abdomen morphology	2239	GPC4	ORPHA:373
HP:0001438	Abnormal abdomen morphology	2239	GPC4	OMIM:312870
HP:0001438	Abnormal abdomen morphology	2719	GPC3	ORPHA:373
HP:0001438	Abnormal abdomen morphology	2719	GPC3	OMIM:312870
HP:0001438	Abnormal abdomen morphology	51651	PTRH2	OMIM:616263
HP:0001438	Abnormal abdomen morphology	51651	PTRH2	ORPHA:456312
HP:0001438	Abnormal abdomen morphology	5966	REL	OMIM:619652
HP:0001438	Abnormal abdomen morphology	23162	MAPK8IP3	OMIM:618443
HP:0001438	Abnormal abdomen morphology	5692	PSMB4	OMIM:617591
HP:0001438	Abnormal abdomen morphology	5698	PSMB9	OMIM:617591
HP:0001438	Abnormal abdomen morphology	3423	IDS	OMIM:309900
HP:0001438	Abnormal abdomen morphology	5286	PIK3C2A	OMIM:618440
HP:0001438	Abnormal abdomen morphology	8565	YARS1	OMIM:619418
HP:0001438	Abnormal abdomen morphology	84168	ANTXR1	OMIM:230740
HP:0001438	Abnormal abdomen morphology	3172	HNF4A	OMIM:616026
HP:0001438	Abnormal abdomen morphology	3172	HNF4A	ORPHA:263455
HP:0001438	Abnormal abdomen morphology	654	BMP6	ORPHA:465508
HP:0001438	Abnormal abdomen morphology	8813	DPM1	ORPHA:79322
HP:0001438	Abnormal abdomen morphology	8813	DPM1	OMIM:608799
HP:0001438	Abnormal abdomen morphology	51311	TLR8	OMIM:301078
HP:0001438	Abnormal abdomen morphology	1616	DAXX	ORPHA:100075
HP:0001438	Abnormal abdomen morphology	546	ATRX	ORPHA:100075
HP:0001438	Abnormal abdomen morphology	4615	MYD88	ORPHA:33226
HP:0001438	Abnormal abdomen morphology	6576	SLC25A1	OMIM:615182
HP:0001438	Abnormal abdomen morphology	6927	HNF1A	ORPHA:324575
HP:0001438	Abnormal abdomen morphology	9742	IFT140	OMIM:266920
HP:0001438	Abnormal abdomen morphology	205327	C2orf69	OMIM:619423
HP:0001438	Abnormal abdomen morphology	4633	MYL2	OMIM:619424
HP:0001438	Abnormal abdomen morphology	5825	ABCD3	OMIM:616278
HP:0001438	Abnormal abdomen morphology	5256	PHKA2	ORPHA:264580
HP:0001438	Abnormal abdomen morphology	5256	PHKA2	OMIM:306000
HP:0001438	Abnormal abdomen morphology	5261	PHKG2	ORPHA:264580
HP:0001438	Abnormal abdomen morphology	5261	PHKG2	OMIM:613027
HP:0001438	Abnormal abdomen morphology	113220	KIF12	OMIM:619662
HP:0001438	Abnormal abdomen morphology	3000	GUCY2D	OMIM:204000
HP:0001438	Abnormal abdomen morphology	344	APOC2	OMIM:207750
HP:0001438	Abnormal abdomen morphology	846	CASR	OMIM:239200
HP:0001438	Abnormal abdomen morphology	846	CASR	ORPHA:417
HP:0001438	Abnormal abdomen morphology	4594	MMUT	ORPHA:79312
HP:0001438	Abnormal abdomen morphology	4594	MMUT	ORPHA:289916
HP:0001438	Abnormal abdomen morphology	4594	MMUT	OMIM:251000
HP:0001438	Abnormal abdomen morphology	3155	HMGCL	ORPHA:20
HP:0001438	Abnormal abdomen morphology	3155	HMGCL	OMIM:246450
HP:0001438	Abnormal abdomen morphology	65992	DDRGK1	OMIM:602557
HP:0001438	Abnormal abdomen morphology	6448	SGSH	OMIM:252900
HP:0001438	Abnormal abdomen morphology	10466	COG5	ORPHA:263487
HP:0001438	Abnormal abdomen morphology	331	XIAP	OMIM:300635
HP:0001438	Abnormal abdomen morphology	331	XIAP	OMIM:308240
HP:0001438	Abnormal abdomen morphology	54517	PUS7	OMIM:618342
HP:0001438	Abnormal abdomen morphology	85476	GFM1	OMIM:609060
HP:0001438	Abnormal abdomen morphology	8818	DPM2	ORPHA:329178
HP:0001438	Abnormal abdomen morphology	9842	PLEKHM1	OMIM:618107
HP:0001438	Abnormal abdomen morphology	959	CD40LG	OMIM:308230
HP:0001438	Abnormal abdomen morphology	10102	TSFM	OMIM:610505
HP:0001438	Abnormal abdomen morphology	23451	SF3B1	ORPHA:75564
HP:0001438	Abnormal abdomen morphology	10312	TCIRG1	ORPHA:667
HP:0001438	Abnormal abdomen morphology	10312	TCIRG1	OMIM:259700
HP:0001438	Abnormal abdomen morphology	29887	SNX10	ORPHA:667
HP:0001438	Abnormal abdomen morphology	29887	SNX10	OMIM:615085
HP:0001438	Abnormal abdomen morphology	8600	TNFSF11	ORPHA:667
HP:0001438	Abnormal abdomen morphology	5095	PCCA	ORPHA:35
HP:0001438	Abnormal abdomen morphology	5095	PCCA	OMIM:606054
HP:0001438	Abnormal abdomen morphology	5096	PCCB	ORPHA:35
HP:0001438	Abnormal abdomen morphology	5096	PCCB	OMIM:606054
HP:0001438	Abnormal abdomen morphology	201294	UNC13D	ORPHA:540
HP:0001438	Abnormal abdomen morphology	6813	STXBP2	ORPHA:540
HP:0001438	Abnormal abdomen morphology	55315	SLC29A3	OMIM:602782
HP:0001438	Abnormal abdomen morphology	6514	SLC2A2	OMIM:227810
HP:0001438	Abnormal abdomen morphology	6514	SLC2A2	ORPHA:2088
HP:0001438	Abnormal abdomen morphology	11277	TREX1	OMIM:225750
HP:0001438	Abnormal abdomen morphology	4695	NDUFA2	OMIM:618235
HP:0001438	Abnormal abdomen morphology	79868	ALG13	OMIM:300884
HP:0001438	Abnormal abdomen morphology	51119	SBDS	OMIM:260400
HP:0001438	Abnormal abdomen morphology	51119	SBDS	ORPHA:811
HP:0001438	Abnormal abdomen morphology	134218	DNAJC21	OMIM:260400
HP:0001438	Abnormal abdomen morphology	134218	DNAJC21	ORPHA:811
HP:0001438	Abnormal abdomen morphology	6729	SRP54	OMIM:260400
HP:0001438	Abnormal abdomen morphology	6729	SRP54	ORPHA:811
HP:0001438	Abnormal abdomen morphology	22861	NLRP1	OMIM:617388
HP:0001438	Abnormal abdomen morphology	5660	PSAP	OMIM:611721
HP:0001438	Abnormal abdomen morphology	5660	PSAP	OMIM:610539
HP:0001438	Abnormal abdomen morphology	5660	PSAP	ORPHA:139406
HP:0001438	Abnormal abdomen morphology	55503	TRPV6	ORPHA:417
HP:0001438	Abnormal abdomen morphology	1130	LYST	OMIM:214500
HP:0001438	Abnormal abdomen morphology	348	APOE	ORPHA:412
HP:0001438	Abnormal abdomen morphology	348	APOE	ORPHA:158029
HP:0001438	Abnormal abdomen morphology	4068	SH2D1A	OMIM:308240
HP:0001438	Abnormal abdomen morphology	10166	SLC25A15	ORPHA:415
HP:0001438	Abnormal abdomen morphology	10166	SLC25A15	OMIM:238970
HP:0001438	Abnormal abdomen morphology	114548	NLRP3	ORPHA:575
HP:0001438	Abnormal abdomen morphology	114548	NLRP3	ORPHA:1451
HP:0001438	Abnormal abdomen morphology	537	ATP6AP1	OMIM:300972
HP:0001438	Abnormal abdomen morphology	34	ACADM	OMIM:201450
HP:0001438	Abnormal abdomen morphology	34	ACADM	ORPHA:42
HP:0001438	Abnormal abdomen morphology	4125	MAN2B1	OMIM:248500
HP:0001438	Abnormal abdomen morphology	3756	KCNH1	OMIM:135500
HP:0001438	Abnormal abdomen morphology	3756	KCNH1	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3394	IRF8	OMIM:226990
HP:0001438	Abnormal abdomen morphology	7468	NSD2	OMIM:619695
HP:0001438	Abnormal abdomen morphology	3158	HMGCS2	OMIM:605911
HP:0001438	Abnormal abdomen morphology	4547	MTTP	ORPHA:14
HP:0001438	Abnormal abdomen morphology	112812	FDX2	OMIM:251900
HP:0001438	Abnormal abdomen morphology	4556	MT-TE	ORPHA:254864
HP:0001438	Abnormal abdomen morphology	55630	SLC39A4	OMIM:201100
HP:0001438	Abnormal abdomen morphology	8802	SUCLG1	ORPHA:17
HP:0001438	Abnormal abdomen morphology	3560	IL2RB	OMIM:618495
HP:0001438	Abnormal abdomen morphology	8883	NAE1	OMIM:620210
HP:0001438	Abnormal abdomen morphology	84701	COX4I2	OMIM:612714
HP:0001438	Abnormal abdomen morphology	60386	SLC25A19	ORPHA:99742
HP:0001438	Abnormal abdomen morphology	60386	SLC25A19	OMIM:607196
HP:0001438	Abnormal abdomen morphology	56244	BTNL2	ORPHA:797
HP:0001438	Abnormal abdomen morphology	56244	BTNL2	OMIM:612387
HP:0001438	Abnormal abdomen morphology	3123	HLA-DRB1	ORPHA:797
HP:0001438	Abnormal abdomen morphology	3123	HLA-DRB1	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	3123	HLA-DRB1	OMIM:181000
HP:0001438	Abnormal abdomen morphology	8943	AP3D1	OMIM:617050
HP:0001438	Abnormal abdomen morphology	37	ACADVL	OMIM:201475
HP:0001438	Abnormal abdomen morphology	37	ACADVL	ORPHA:26793
HP:0001438	Abnormal abdomen morphology	57003	CCDC47	OMIM:618268
HP:0001438	Abnormal abdomen morphology	57061	HYMAI	ORPHA:96191
HP:0001438	Abnormal abdomen morphology	5325	PLAGL1	ORPHA:96191
HP:0001438	Abnormal abdomen morphology	570	BAAT	OMIM:619232
HP:0001438	Abnormal abdomen morphology	94005	PIGS	OMIM:618143
HP:0001438	Abnormal abdomen morphology	435	ASL	OMIM:207900
HP:0001438	Abnormal abdomen morphology	3643	INSR	ORPHA:508
HP:0001438	Abnormal abdomen morphology	83706	FERMT3	OMIM:612840
HP:0001438	Abnormal abdomen morphology	9420	CYP7B1	OMIM:613812
HP:0001438	Abnormal abdomen morphology	84665	MYPN	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	2318	FLNC	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	7139	TNNT2	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	7137	TNNI3	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	55636	CHD7	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	3981	LIG4	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	3981	LIG4	ORPHA:99812
HP:0001438	Abnormal abdomen morphology	100	ADA	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	100	ADA	OMIM:102700
HP:0001438	Abnormal abdomen morphology	3575	IL7R	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	3575	IL7R	OMIM:608971
HP:0001438	Abnormal abdomen morphology	7504	XK	OMIM:300842
HP:0001438	Abnormal abdomen morphology	8567	MADD	OMIM:619004
HP:0001438	Abnormal abdomen morphology	8567	MADD	OMIM:619005
HP:0001438	Abnormal abdomen morphology	374354	NHLRC2	OMIM:618278
HP:0001438	Abnormal abdomen morphology	374879	ZNF699	OMIM:619488
HP:0001438	Abnormal abdomen morphology	10651	MTX2	OMIM:619127
HP:0001438	Abnormal abdomen morphology	226	ALDOA	OMIM:611881
HP:0001438	Abnormal abdomen morphology	3557	IL1RN	OMIM:612852
HP:0001438	Abnormal abdomen morphology	7284	TUFM	OMIM:610678
HP:0001438	Abnormal abdomen morphology	2799	GNS	OMIM:252940
HP:0001438	Abnormal abdomen morphology	3030	HADHA	OMIM:609016
HP:0001438	Abnormal abdomen morphology	3030	HADHA	ORPHA:5
HP:0001438	Abnormal abdomen morphology	10551	AGR2	OMIM:620233
HP:0001438	Abnormal abdomen morphology	55670	PEX26	ORPHA:772
HP:0001438	Abnormal abdomen morphology	55670	PEX26	OMIM:614872
HP:0001438	Abnormal abdomen morphology	55670	PEX26	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5824	PEX19	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5824	PEX19	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5828	PEX2	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5828	PEX2	OMIM:614866
HP:0001438	Abnormal abdomen morphology	5828	PEX2	ORPHA:912
HP:0001438	Abnormal abdomen morphology	8504	PEX3	ORPHA:772
HP:0001438	Abnormal abdomen morphology	8504	PEX3	OMIM:614882
HP:0001438	Abnormal abdomen morphology	8504	PEX3	ORPHA:912
HP:0001438	Abnormal abdomen morphology	9409	PEX16	ORPHA:772
HP:0001438	Abnormal abdomen morphology	9409	PEX16	OMIM:614876
HP:0001438	Abnormal abdomen morphology	9409	PEX16	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5190	PEX6	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5190	PEX6	OMIM:614862
HP:0001438	Abnormal abdomen morphology	5190	PEX6	OMIM:614863
HP:0001438	Abnormal abdomen morphology	5190	PEX6	ORPHA:912
HP:0001438	Abnormal abdomen morphology	8799	PEX11B	ORPHA:772
HP:0001438	Abnormal abdomen morphology	8799	PEX11B	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5193	PEX12	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5193	PEX12	OMIM:614859
HP:0001438	Abnormal abdomen morphology	5193	PEX12	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5193	PEX12	OMIM:266510
HP:0001438	Abnormal abdomen morphology	5194	PEX13	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5194	PEX13	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5195	PEX14	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5195	PEX14	OMIM:614887
HP:0001438	Abnormal abdomen morphology	5195	PEX14	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5192	PEX10	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5192	PEX10	OMIM:614870
HP:0001438	Abnormal abdomen morphology	5192	PEX10	ORPHA:912
HP:0001438	Abnormal abdomen morphology	940	CD28	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	940	CD28	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	7390	UROS	OMIM:263700
HP:0001438	Abnormal abdomen morphology	8651	SOCS1	OMIM:619375
HP:0001438	Abnormal abdomen morphology	9487	PIGL	OMIM:280000
HP:0001438	Abnormal abdomen morphology	383	ARG1	OMIM:207800
HP:0001438	Abnormal abdomen morphology	5236	PGM1	OMIM:614921
HP:0001438	Abnormal abdomen morphology	55005	RMND1	OMIM:614922
HP:0001438	Abnormal abdomen morphology	22800	RRAS2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	8216	LZTR1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6016	RIT1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6237	RRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5894	RAF1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	22808	MRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	3845	KRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	3845	KRAS	OMIM:614470
HP:0001438	Abnormal abdomen morphology	200734	SPRED2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	4893	NRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	4893	NRAS	OMIM:614470
HP:0001438	Abnormal abdomen morphology	6654	SOS1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6655	SOS2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5781	PTPN11	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5922	RASA2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	138050	HGSNAT	OMIM:252930
HP:0001438	Abnormal abdomen morphology	10020	GNE	ORPHA:3166
HP:0001438	Abnormal abdomen morphology	10020	GNE	OMIM:269921
HP:0001438	Abnormal abdomen morphology	1376	CPT2	ORPHA:228305
HP:0001438	Abnormal abdomen morphology	1376	CPT2	ORPHA:228308
HP:0001438	Abnormal abdomen morphology	1376	CPT2	OMIM:600649
HP:0001438	Abnormal abdomen morphology	1376	CPT2	OMIM:608836
HP:0001438	Abnormal abdomen morphology	5468	PPARG	ORPHA:528
HP:0001438	Abnormal abdomen morphology	5468	PPARG	ORPHA:79083
HP:0001438	Abnormal abdomen morphology	10555	AGPAT2	ORPHA:528
HP:0001438	Abnormal abdomen morphology	10555	AGPAT2	OMIM:608594
HP:0001438	Abnormal abdomen morphology	284119	CAVIN1	ORPHA:528
HP:0001438	Abnormal abdomen morphology	284119	CAVIN1	OMIM:613327
HP:0001438	Abnormal abdomen morphology	26580	BSCL2	ORPHA:528
HP:0001438	Abnormal abdomen morphology	26580	BSCL2	OMIM:615924
HP:0001438	Abnormal abdomen morphology	26580	BSCL2	ORPHA:363400
HP:0001438	Abnormal abdomen morphology	26580	BSCL2	OMIM:269700
HP:0001438	Abnormal abdomen morphology	2353	FOS	ORPHA:528
HP:0001438	Abnormal abdomen morphology	857	CAV1	ORPHA:528
HP:0001438	Abnormal abdomen morphology	857	CAV1	OMIM:612526
HP:0001438	Abnormal abdomen morphology	124454	EARS2	OMIM:614924
HP:0001438	Abnormal abdomen morphology	1719	DHFR	OMIM:613839
HP:0001438	Abnormal abdomen morphology	64131	XYLT1	ORPHA:370930
HP:0001438	Abnormal abdomen morphology	129285	PPP1R21	OMIM:619383
HP:0001438	Abnormal abdomen morphology	51626	DYNC2LI1	OMIM:617088
HP:0001438	Abnormal abdomen morphology	5257	PHKB	OMIM:261750
HP:0001438	Abnormal abdomen morphology	5257	PHKB	ORPHA:79240
HP:0001438	Abnormal abdomen morphology	146059	CDAN1	OMIM:224120
HP:0001438	Abnormal abdomen morphology	9652	SKIC3	ORPHA:84064
HP:0001438	Abnormal abdomen morphology	9652	SKIC3	OMIM:222470
HP:0001438	Abnormal abdomen morphology	6499	SKIC2	ORPHA:84064
HP:0001438	Abnormal abdomen morphology	6499	SKIC2	OMIM:614602
HP:0001438	Abnormal abdomen morphology	10535	RNASEH2A	OMIM:610333
HP:0001438	Abnormal abdomen morphology	5696	PSMB8	OMIM:256040
HP:0001438	Abnormal abdomen morphology	4669	NAGLU	OMIM:252920
HP:0001438	Abnormal abdomen morphology	26276	VPS33B	OMIM:620010
HP:0001438	Abnormal abdomen morphology	27183	VPS4A	OMIM:619273
HP:0001438	Abnormal abdomen morphology	355	FAS	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	355	FAS	OMIM:601859
HP:0001438	Abnormal abdomen morphology	356	FASLG	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	356	FASLG	OMIM:601859
HP:0001438	Abnormal abdomen morphology	5580	PRKCD	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	5580	PRKCD	OMIM:615559
HP:0001438	Abnormal abdomen morphology	843	CASP10	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	843	CASP10	OMIM:603909
HP:0001438	Abnormal abdomen morphology	10125	RASGRP1	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	144811	LACC1	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	4282	MIF	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	3569	IL6	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	6309	SC5D	ORPHA:46059
HP:0001438	Abnormal abdomen morphology	4574	MT-TS1	OMIM:220110
HP:0001438	Abnormal abdomen morphology	4570	MT-TN	OMIM:220110
HP:0001438	Abnormal abdomen morphology	6834	SURF1	OMIM:220110
HP:0001438	Abnormal abdomen morphology	55532	SLC30A10	ORPHA:309854
HP:0001438	Abnormal abdomen morphology	55532	SLC30A10	OMIM:613280
HP:0001438	Abnormal abdomen morphology	83700	JAM3	OMIM:613730
HP:0001438	Abnormal abdomen morphology	3815	KIT	ORPHA:98849
HP:0001438	Abnormal abdomen morphology	4352	MPL	ORPHA:824
HP:0001438	Abnormal abdomen morphology	4352	MPL	ORPHA:729
HP:0001438	Abnormal abdomen morphology	7518	XRCC4	ORPHA:99812
HP:0001438	Abnormal abdomen morphology	8854	ALDH1A2	OMIM:620025
HP:0001438	Abnormal abdomen morphology	2038	EPB42	ORPHA:822
HP:0001438	Abnormal abdomen morphology	6521	SLC4A1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	6710	SPTB	ORPHA:822
HP:0001438	Abnormal abdomen morphology	6708	SPTA1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	286	ANK1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	54968	TMEM70	ORPHA:1194
HP:0001438	Abnormal abdomen morphology	6341	SCO1	OMIM:619048
HP:0001438	Abnormal abdomen morphology	6392	SDHD	OMIM:619167
HP:0001438	Abnormal abdomen morphology	79947	DHDDS	OMIM:613861
HP:0001438	Abnormal abdomen morphology	55788	LMBRD1	OMIM:277380
HP:0001438	Abnormal abdomen morphology	10225	CD96	OMIM:211750
HP:0001438	Abnormal abdomen morphology	30061	SLC40A1	OMIM:606069
HP:0001438	Abnormal abdomen morphology	79631	EFL1	ORPHA:811
HP:0001438	Abnormal abdomen morphology	79631	EFL1	OMIM:617941
HP:0001438	Abnormal abdomen morphology	7535	ZAP70	OMIM:269840
HP:0001438	Abnormal abdomen morphology	84987	COX14	OMIM:619053
HP:0001438	Abnormal abdomen morphology	6005	RHAG	OMIM:185000
HP:0001438	Abnormal abdomen morphology	1738	DLD	ORPHA:2394
HP:0001438	Abnormal abdomen morphology	1738	DLD	OMIM:246900
HP:0001438	Abnormal abdomen morphology	5699	PSMB10	OMIM:619175
HP:0001438	Abnormal abdomen morphology	2538	G6PC1	OMIM:232200
HP:0001438	Abnormal abdomen morphology	92579	G6PC3	OMIM:612541
HP:0001438	Abnormal abdomen morphology	9927	MFN2	ORPHA:2398
HP:0001438	Abnormal abdomen morphology	686	BTD	OMIM:253260
HP:0001438	Abnormal abdomen morphology	8792	TNFRSF11A	OMIM:612301
HP:0001438	Abnormal abdomen morphology	7132	TNFRSF1A	OMIM:142680
HP:0001438	Abnormal abdomen morphology	208	AKT2	ORPHA:79085
HP:0001438	Abnormal abdomen morphology	55858	TMEM165	OMIM:614727
HP:0001438	Abnormal abdomen morphology	7840	ALMS1	OMIM:203800
HP:0001438	Abnormal abdomen morphology	7840	ALMS1	ORPHA:64
HP:0001438	Abnormal abdomen morphology	8546	AP3B1	OMIM:608233
HP:0001438	Abnormal abdomen morphology	5313	PKLR	OMIM:266200
HP:0001438	Abnormal abdomen morphology	56984	PSMG2	OMIM:619183
HP:0001438	Abnormal abdomen morphology	1717	DHCR7	OMIM:270400
HP:0001438	Abnormal abdomen morphology	23116	TOGARAM1	OMIM:619185
HP:0001438	Abnormal abdomen morphology	9377	COX5A	OMIM:619064
HP:0001438	Abnormal abdomen morphology	23230	VPS13A	ORPHA:2388
HP:0001438	Abnormal abdomen morphology	63894	VIPAS39	OMIM:613404
HP:0001438	Abnormal abdomen morphology	526	ATP6V1B2	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3782	KCNN3	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3425	IDUA	OMIM:607014
HP:0001438	Abnormal abdomen morphology	3425	IDUA	OMIM:607015
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93474
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93473
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93476
HP:0001438	Abnormal abdomen morphology	175	AGA	ORPHA:93
HP:0001438	Abnormal abdomen morphology	175	AGA	OMIM:208400
HP:0001438	Abnormal abdomen morphology	4853	NOTCH2	ORPHA:955
HP:0001438	Abnormal abdomen morphology	374393	FAM111B	OMIM:615704
HP:0001438	Abnormal abdomen morphology	338328	GPIHBP1	OMIM:615947
HP:0001438	Abnormal abdomen morphology	4069	LYZ	OMIM:105200
HP:0001438	Abnormal abdomen morphology	2243	FGA	OMIM:105200
HP:0001438	Abnormal abdomen morphology	335	APOA1	OMIM:105200
HP:0001438	Abnormal abdomen morphology	567	B2M	OMIM:105200
HP:0001438	Abnormal abdomen morphology	1798	DPAGT1	ORPHA:86309
HP:0001438	Abnormal abdomen morphology	5091	PC	OMIM:266150
HP:0001438	Abnormal abdomen morphology	51660	MPC1	OMIM:614741
HP:0001438	Abnormal abdomen morphology	3991	LIPE	ORPHA:435660
HP:0001438	Abnormal abdomen morphology	4519	MT-CYB	ORPHA:137675
HP:0001438	Abnormal abdomen morphology	5265	SERPINA1	ORPHA:60
HP:0001438	Abnormal abdomen morphology	23600	AMACR	OMIM:214950
HP:0001438	Abnormal abdomen morphology	9719	ADAMTSL2	OMIM:231050
HP:0001438	Abnormal abdomen morphology	2624	GATA2	ORPHA:3226
HP:0001438	Abnormal abdomen morphology	2548	GAA	ORPHA:308552
HP:0001438	Abnormal abdomen morphology	2548	GAA	OMIM:232300
HP:0001438	Abnormal abdomen morphology	6288	SAA1	ORPHA:85445
HP:0001438	Abnormal abdomen morphology	64135	IFIH1	OMIM:615846
HP:0001438	Abnormal abdomen morphology	10165	SLC25A13	ORPHA:247598
HP:0001438	Abnormal abdomen morphology	10165	SLC25A13	ORPHA:247585
HP:0001438	Abnormal abdomen morphology	3662	IRF4	ORPHA:3452
HP:0001438	Abnormal abdomen morphology	388015	RTL1	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	8788	DLK1	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	55384	MEG3	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	3911	LAMA5	OMIM:620076
HP:0001438	Abnormal abdomen morphology	55343	SLC35C1	ORPHA:99843
HP:0001438	Abnormal abdomen morphology	8314	BAP1	ORPHA:50251
HP:0001438	Abnormal abdomen morphology	1028	CDKN1C	OMIM:130650
HP:0001438	Abnormal abdomen morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001438	Abnormal abdomen morphology	3481	IGF2	OMIM:130650
HP:0001438	Abnormal abdomen morphology	3784	KCNQ1	OMIM:130650
HP:0001438	Abnormal abdomen morphology	162417	NAGS	ORPHA:927
HP:0001438	Abnormal abdomen morphology	57817	HAMP	OMIM:613313
HP:0001438	Abnormal abdomen morphology	445	ASS1	OMIM:215700
HP:0001438	Abnormal abdomen morphology	84317	CCDC115	OMIM:616828
HP:0001438	Abnormal abdomen morphology	10568	SLC34A2	ORPHA:60025
HP:0001438	Abnormal abdomen morphology	51067	YARS2	OMIM:613561
HP:0001438	Abnormal abdomen morphology	93183	PIGM	OMIM:610293
HP:0001438	Abnormal abdomen morphology	7351	UCP2	ORPHA:276556
HP:0001438	Abnormal abdomen morphology	57410	SCYL1	OMIM:616719
HP:0001438	Abnormal abdomen morphology	6888	TALDO1	OMIM:606003
HP:0001438	Abnormal abdomen morphology	56052	ALG1	OMIM:608540
HP:0001438	Abnormal abdomen morphology	4054	LTBP3	OMIM:617809
HP:0001438	Abnormal abdomen morphology	26160	IFT172	OMIM:615630
HP:0001438	Abnormal abdomen morphology	84529	CDIN1	OMIM:615631
HP:0001438	Abnormal abdomen morphology	11133	KPTN	OMIM:615637
HP:0001438	Abnormal abdomen morphology	6948	TCN2	OMIM:275350
HP:0001438	Abnormal abdomen morphology	5156	PDGFRA	OMIM:607685
HP:0001438	Abnormal abdomen morphology	4173	MCM4	OMIM:609981
HP:0001438	Abnormal abdomen morphology	411	ARSB	OMIM:253200
HP:0001438	Abnormal abdomen morphology	55593	OTUD5	OMIM:301056
HP:0001438	Abnormal abdomen morphology	3074	HEXB	OMIM:268800
HP:0001438	Abnormal abdomen morphology	549	AUH	ORPHA:67046
HP:0001438	Abnormal abdomen morphology	10525	HYOU1	OMIM:233600
HP:0001438	Abnormal abdomen morphology	4792	NFKBIA	OMIM:612132
HP:0001438	Abnormal abdomen morphology	169792	GLIS3	OMIM:610199
HP:0001438	Abnormal abdomen morphology	6513	SLC2A1	OMIM:608885
HP:0001438	Abnormal abdomen morphology	9076	CLDN1	ORPHA:59303
HP:0001438	Abnormal abdomen morphology	9076	CLDN1	OMIM:607626
HP:0001438	Abnormal abdomen morphology	6833	ABCC8	ORPHA:276575
HP:0001438	Abnormal abdomen morphology	3767	KCNJ11	ORPHA:276580
HP:0001438	Abnormal abdomen morphology	7547	ZIC3	OMIM:306955
HP:0001438	Abnormal abdomen morphology	9663	LPIN2	ORPHA:77297
HP:0001438	Abnormal abdomen morphology	51218	GLRX5	OMIM:616860
HP:0001438	Abnormal abdomen morphology	6097	RORC	OMIM:616622
HP:0001438	Abnormal abdomen morphology	26007	TKFC	OMIM:618805
HP:0001438	Abnormal abdomen morphology	10616	RBCK1	OMIM:615895
HP:0001438	Abnormal abdomen morphology	6663	SOX10	ORPHA:163746
HP:0001438	Abnormal abdomen morphology	708	C1QBP	OMIM:617713
HP:0001438	Abnormal abdomen morphology	284086	NEK8	OMIM:615415
HP:0001438	Abnormal abdomen morphology	3248	HPGD	ORPHA:2796
HP:0001438	Abnormal abdomen morphology	6578	SLCO2A1	ORPHA:2796
HP:0001438	Abnormal abdomen morphology	55764	IFT122	OMIM:218330
HP:0001438	Abnormal abdomen morphology	91647	ATPAF2	OMIM:604273
HP:0001438	Abnormal abdomen morphology	84061	MAGT1	OMIM:301031
HP:0001438	Abnormal abdomen morphology	57511	COG6	OMIM:614576
HP:0001438	Abnormal abdomen morphology	56623	INPP5E	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	57545	CC2D2A	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	55210	ATAD3A	OMIM:618810
HP:0001438	Abnormal abdomen morphology	25839	COG4	OMIM:613489
HP:0001438	Abnormal abdomen morphology	326625	MMAB	OMIM:251110
HP:0001438	Abnormal abdomen morphology	5873	RAB27A	ORPHA:79477
HP:0001438	Abnormal abdomen morphology	760	CA2	ORPHA:2785
HP:0001438	Abnormal abdomen morphology	2584	GALK1	ORPHA:79237
HP:0001438	Abnormal abdomen morphology	9997	SCO2	OMIM:604377
HP:0001438	Abnormal abdomen morphology	10367	MICU1	OMIM:615673
HP:0001438	Abnormal abdomen morphology	3702	ITK	OMIM:613011
HP:0001438	Abnormal abdomen morphology	11222	MRPL3	OMIM:614582
HP:0001438	Abnormal abdomen morphology	2588	GALNS	OMIM:253000
HP:0001438	Abnormal abdomen morphology	975	CD81	OMIM:613496
HP:0001438	Abnormal abdomen morphology	51520	LARS1	OMIM:615438
HP:0001438	Abnormal abdomen morphology	2065	ERBB3	OMIM:133180
HP:0001438	Abnormal abdomen morphology	26047	CNTNAP2	ORPHA:163681
HP:0001438	Abnormal abdomen morphology	200894	ARL13B	OMIM:612291
HP:0001438	Abnormal abdomen morphology	27031	NPHP3	OMIM:208540
HP:0001438	Abnormal abdomen morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001438	Abnormal abdomen morphology	83737	ITCH	OMIM:613385
HP:0001438	Abnormal abdomen morphology	51816	ADA2	OMIM:615688
HP:0001438	Abnormal abdomen morphology	28957	MRPS28	OMIM:618958
HP:0001438	Abnormal abdomen morphology	3931	LCAT	ORPHA:79292
HP:0001438	Abnormal abdomen morphology	100506658	OCLN	OMIM:251290
HP:0001438	Abnormal abdomen morphology	27232	GNMT	OMIM:606664
HP:0001438	Abnormal abdomen morphology	2819	GPD1	OMIM:614480
HP:0001438	Abnormal abdomen morphology	51081	MRPS7	OMIM:617872
HP:0001438	Abnormal abdomen morphology	178	AGL	OMIM:232400
HP:0001438	Abnormal abdomen morphology	4668	NAGA	ORPHA:79281
HP:0001438	Abnormal abdomen morphology	4668	NAGA	ORPHA:79279
HP:0001438	Abnormal abdomen morphology	2639	GCDH	OMIM:231670
HP:0001438	Abnormal abdomen morphology	8737	RIPK1	OMIM:618852
HP:0001438	Abnormal abdomen morphology	80169	CTC1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	26277	TINF2	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55651	NHP2	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	79650	USB1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55135	WRAP53	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	51750	RTEL1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	4869	NPM1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7012	TERC	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55505	NOP10	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	5073	PARN	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7015	TERT	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	1736	DKC1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7298	TYMS	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	57728	WDR19	OMIM:614376
HP:0001438	Abnormal abdomen morphology	3636	INPPL1	ORPHA:2746
HP:0001438	Abnormal abdomen morphology	1794	DOCK2	OMIM:616433
HP:0001438	Abnormal abdomen morphology	2108	ETFA	OMIM:231680
HP:0001438	Abnormal abdomen morphology	2109	ETFB	OMIM:231680
HP:0001438	Abnormal abdomen morphology	2110	ETFDH	OMIM:231680
HP:0001438	Abnormal abdomen morphology	2582	GALE	OMIM:230350
HP:0001438	Abnormal abdomen morphology	5476	CTSA	OMIM:256540
HP:0001438	Abnormal abdomen morphology	7020	TFAP2A	OMIM:113620
HP:0001438	Abnormal abdomen morphology	25836	NIPBL	OMIM:122470
HP:0001438	Abnormal abdomen morphology	7174	TPP2	OMIM:619220
HP:0001438	Abnormal abdomen morphology	23095	KIF1B	OMIM:256700
HP:0001438	Abnormal abdomen morphology	166379	BBS12	OMIM:615989
HP:0001438	Abnormal abdomen morphology	4665	NAB2	ORPHA:2126
HP:0001438	Abnormal abdomen morphology	6778	STAT6	ORPHA:2126
HP:0001438	Abnormal abdomen morphology	404672	GTF2H5	OMIM:616395
HP:0001438	Abnormal abdomen morphology	1281	COL3A1	OMIM:130050
HP:0001438	Abnormal abdomen morphology	1281	COL3A1	ORPHA:286
HP:0001438	Abnormal abdomen morphology	4088	SMAD3	OMIM:613795
HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	55784	MCTP2	ORPHA:1596
HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	26191	PTPN22	ORPHA:397
HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3106	HLA-B	ORPHA:397
HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3123	HLA-DRB1	ORPHA:397
HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	8974	P4HA2	ORPHA:397
HP:0001441	Abnormality of the musculature of the thigh	59341	TRPV4	OMIM:600175
HP:0001441	Abnormality of the musculature of the thigh	65055	REEP1	ORPHA:101011
HP:0001441	Abnormality of the musculature of the thigh	4625	MYH7	ORPHA:437572
HP:0001441	Abnormality of the musculature of the thigh	1778	DYNC1H1	OMIM:158600
HP:0001441	Abnormality of the musculature of the thigh	80208	SPG11	OMIM:616668
HP:0001441	Abnormality of the musculature of the thigh	203547	VMA21	OMIM:310440
HP:0001441	Abnormality of the musculature of the thigh	6444	SGCD	ORPHA:219
HP:0001441	Abnormality of the musculature of the thigh	4000	LMNA	ORPHA:98855
HP:0001441	Abnormality of the musculature of the thigh	4000	LMNA	ORPHA:98856
HP:0001441	Abnormality of the musculature of the thigh	4000	LMNA	ORPHA:98853
HP:0001441	Abnormality of the musculature of the thigh	4747	NEFL	ORPHA:101085
HP:0001441	Abnormality of the musculature of the thigh	9987	HNRNPDL	OMIM:609115
HP:0001441	Abnormality of the musculature of the thigh	6606	SMN1	OMIM:253400
HP:0001441	Abnormality of the musculature of the thigh	6607	SMN2	OMIM:253400
HP:0001441	Abnormality of the musculature of the thigh	2273	FHL1	ORPHA:98863
HP:0001441	Abnormality of the musculature of the thigh	2010	EMD	ORPHA:98863
HP:0001441	Abnormality of the musculature of the thigh	79188	TMEM43	ORPHA:98853
HP:0001441	Abnormality of the musculature of the thigh	23345	SYNE1	ORPHA:98853
HP:0001441	Abnormality of the musculature of the thigh	23224	SYNE2	ORPHA:98853
HP:0001441	Abnormality of the musculature of the thigh	122622	ADSS1	ORPHA:482601
HP:0001441	Abnormality of the musculature of the thigh	203859	ANO5	OMIM:613319
HP:0001441	Abnormality of the musculature of the thigh	203859	ANO5	OMIM:611307
HP:0001441	Abnormality of the musculature of the thigh	203859	ANO5	ORPHA:206549
HP:0001441	Abnormality of the musculature of the thigh	4010	LMX1B	OMIM:161200
HP:0001441	Abnormality of the musculature of the thigh	6261	RYR1	ORPHA:597
HP:0001441	Abnormality of the musculature of the thigh	6261	RYR1	ORPHA:424107
HP:0001441	Abnormality of the musculature of the thigh	6261	RYR1	ORPHA:98905
HP:0001442	Somatic mosaicism	5290	PIK3CA	OMIM:612918
HP:0001442	Somatic mosaicism	5290	PIK3CA	OMIM:162900
HP:0001442	Somatic mosaicism	2771	GNAI2	OMIM:192605
HP:0001442	Somatic mosaicism	23405	DICER1	OMIM:618272
HP:0001442	Somatic mosaicism	7355	SLC35A2	OMIM:300896
HP:0001442	Somatic mosaicism	6608	SMO	OMIM:601707
HP:0001442	Somatic mosaicism	2778	GNAS	OMIM:174800
HP:0001442	Somatic mosaicism	3572	IL6ST	OMIM:619750
HP:0001442	Somatic mosaicism	100	ADA	OMIM:102700
HP:0001442	Somatic mosaicism	2260	FGFR1	OMIM:613001
HP:0001442	Somatic mosaicism	387	RHOA	OMIM:618727
HP:0001442	Somatic mosaicism	3845	KRAS	OMIM:163200
HP:0001442	Somatic mosaicism	4893	NRAS	OMIM:163200
HP:0001442	Somatic mosaicism	4893	NRAS	OMIM:162900
HP:0001442	Somatic mosaicism	3265	HRAS	OMIM:163200
HP:0001442	Somatic mosaicism	3265	HRAS	OMIM:162900
HP:0001442	Somatic mosaicism	2261	FGFR3	OMIM:162900
HP:0001444	Autosomal dominant somatic cell mutation	7317	UBA1	OMIM:301054
HP:0001445	Abnormality of the hip-girdle musculature	22954	TRIM32	OMIM:254110
HP:0001445	Abnormality of the hip-girdle musculature	7415	VCP	OMIM:167320
HP:0001445	Abnormality of the hip-girdle musculature	6443	SGCB	OMIM:604286
HP:0001445	Abnormality of the hip-girdle musculature	4000	LMNA	ORPHA:98856
HP:0001445	Abnormality of the hip-girdle musculature	203859	ANO5	ORPHA:206549
HP:0001446	Abnormality of the musculature of the upper limbs	6138	RPL15	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6229	RPS24	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6125	RPL5	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6204	RPS10	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6224	RPS20	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6165	RPL35A	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	2623	GATA1	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6223	RPS19	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6232	RPS27	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6231	RPS26	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	11224	RPL35	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6160	RPL31	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6218	RPS17	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6201	RPS7	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6155	RPL27	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6154	RPL26	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6210	RPS15A	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	90121	TSR2	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6141	RPL18	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6235	RPS29	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6234	RPS28	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	51816	ADA2	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6910	TBX5	OMIM:142900
HP:0001446	Abnormality of the musculature of the upper limbs	5889	RAD51C	OMIM:613390
HP:0001446	Abnormality of the musculature of the upper limbs	23291	FBXW11	OMIM:618914
HP:0001446	Abnormality of the musculature of the upper limbs	2263	FGFR2	OMIM:149730
HP:0001446	Abnormality of the musculature of the upper limbs	3209	HOXA13	OMIM:140000
HP:0001446	Abnormality of the musculature of the upper limbs	1756	DMD	ORPHA:206546
HP:0001446	Abnormality of the musculature of the upper limbs	2617	GARS1	OMIM:600794
HP:0001446	Abnormality of the musculature of the upper limbs	2617	GARS1	ORPHA:139536
HP:0001446	Abnormality of the musculature of the upper limbs	2617	GARS1	OMIM:601472
HP:0001446	Abnormality of the musculature of the upper limbs	1311	COMP	OMIM:619161
HP:0001446	Abnormality of the musculature of the upper limbs	91252	SLC39A13	ORPHA:157965
HP:0001446	Abnormality of the musculature of the upper limbs	91252	SLC39A13	OMIM:612350
HP:0001446	Abnormality of the musculature of the upper limbs	5376	PMP22	OMIM:118300
HP:0001446	Abnormality of the musculature of the upper limbs	8985	PLOD3	OMIM:612394
HP:0001446	Abnormality of the musculature of the upper limbs	26580	BSCL2	OMIM:619112
HP:0001446	Abnormality of the musculature of the upper limbs	26580	BSCL2	ORPHA:139536
HP:0001446	Abnormality of the musculature of the upper limbs	26580	BSCL2	OMIM:270685
HP:0001446	Abnormality of the musculature of the upper limbs	8884	SLC5A6	OMIM:619903
HP:0001446	Abnormality of the musculature of the upper limbs	5165	PDK3	ORPHA:352675
HP:0001446	Abnormality of the musculature of the upper limbs	65055	REEP1	OMIM:614751
HP:0001446	Abnormality of the musculature of the upper limbs	65055	REEP1	ORPHA:139536
HP:0001446	Abnormality of the musculature of the upper limbs	4703	NEB	OMIM:256030
HP:0001446	Abnormality of the musculature of the upper limbs	3710	ITPR3	OMIM:620111
HP:0001446	Abnormality of the musculature of the upper limbs	3425	IDUA	OMIM:607015
HP:0001446	Abnormality of the musculature of the upper limbs	80208	SPG11	OMIM:604360
HP:0001446	Abnormality of the musculature of the upper limbs	8729	GBF1	OMIM:606483
HP:0001446	Abnormality of the musculature of the upper limbs	2318	FLNC	OMIM:614065
HP:0001446	Abnormality of the musculature of the upper limbs	291	SLC25A4	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	5428	POLG	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	56652	TWNK	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	11232	POLG2	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	50484	RRM2B	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	23299	BICD2	ORPHA:363454
HP:0001446	Abnormality of the musculature of the upper limbs	7273	TTN	OMIM:603689
HP:0001446	Abnormality of the musculature of the upper limbs	1410	CRYAB	OMIM:608810
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	OMIM:606612
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	ORPHA:34515
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	OMIM:607155
HP:0001446	Abnormality of the musculature of the upper limbs	2483	FRG1	OMIM:158900
HP:0001446	Abnormality of the musculature of the upper limbs	55791	LRIF1	OMIM:619477
HP:0001446	Abnormality of the musculature of the upper limbs	1763	DNA2	OMIM:615156
HP:0001446	Abnormality of the musculature of the upper limbs	51099	ABHD5	ORPHA:98907
HP:0001446	Abnormality of the musculature of the upper limbs	22954	TRIM32	OMIM:254110
HP:0001446	Abnormality of the musculature of the upper limbs	9782	MATR3	OMIM:606070
HP:0001446	Abnormality of the musculature of the upper limbs	9782	MATR3	ORPHA:600
HP:0001446	Abnormality of the musculature of the upper limbs	57104	PNPLA2	ORPHA:98908
HP:0001446	Abnormality of the musculature of the upper limbs	6261	RYR1	ORPHA:98905
HP:0001446	Abnormality of the musculature of the upper limbs	7415	VCP	OMIM:167320
HP:0001446	Abnormality of the musculature of the upper limbs	1073	CFL2	OMIM:610687
HP:0001446	Abnormality of the musculature of the upper limbs	2581	GALC	ORPHA:206436
HP:0001446	Abnormality of the musculature of the upper limbs	5660	PSAP	ORPHA:206436
HP:0001446	Abnormality of the musculature of the upper limbs	4556	MT-TE	ORPHA:2596
HP:0001446	Abnormality of the musculature of the upper limbs	6606	SMN1	OMIM:253400
HP:0001446	Abnormality of the musculature of the upper limbs	6607	SMN2	OMIM:253400
HP:0001446	Abnormality of the musculature of the upper limbs	10020	GNE	ORPHA:602
HP:0001446	Abnormality of the musculature of the upper limbs	10049	DNAJB6	OMIM:603511
HP:0001446	Abnormality of the musculature of the upper limbs	9499	MYOT	ORPHA:266
HP:0001446	Abnormality of the musculature of the upper limbs	57190	SELENON	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	58	ACTA1	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	4633	MYL2	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	3679	ITGA7	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	7169	TPM2	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	9200	HACD1	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	7170	TPM3	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	51776	MAP3K20	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	2992	GYG1	ORPHA:263297
HP:0001446	Abnormality of the musculature of the upper limbs	2992	GYG1	OMIM:616199
HP:0001446	Abnormality of the musculature of the upper limbs	54332	GDAP1	ORPHA:99948
HP:0001446	Abnormality of the musculature of the upper limbs	23534	TNPO3	OMIM:608423
HP:0001446	Abnormality of the musculature of the upper limbs	203859	ANO5	OMIM:611307
HP:0001446	Abnormality of the musculature of the upper limbs	9987	HNRNPDL	OMIM:609115
HP:0001446	Abnormality of the musculature of the upper limbs	274	BIN1	ORPHA:169186
HP:0001446	Abnormality of the musculature of the upper limbs	274	BIN1	OMIM:255200
HP:0001446	Abnormality of the musculature of the upper limbs	10290	SPEG	ORPHA:169186
HP:0001446	Abnormality of the musculature of the upper limbs	79912	PYROXD1	OMIM:617258
HP:0001446	Abnormality of the musculature of the upper limbs	9820	CUL7	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	9820	CUL7	OMIM:273750
HP:0001446	Abnormality of the musculature of the upper limbs	23363	OBSL1	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	23363	OBSL1	OMIM:612921
HP:0001446	Abnormality of the musculature of the upper limbs	83987	CCDC8	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	6442	SGCA	OMIM:608099
HP:0001446	Abnormality of the musculature of the upper limbs	6442	SGCA	ORPHA:62
HP:0001446	Abnormality of the musculature of the upper limbs	729920	CRPPA	OMIM:616052
HP:0001446	Abnormality of the musculature of the upper limbs	729920	CRPPA	ORPHA:352479
HP:0001446	Abnormality of the musculature of the upper limbs	55790	CSGALNACT1	OMIM:618870
HP:0001446	Abnormality of the musculature of the upper limbs	6443	SGCB	OMIM:604286
HP:0001446	Abnormality of the musculature of the upper limbs	25778	DSTYK	OMIM:270750
HP:0001446	Abnormality of the musculature of the upper limbs	29925	GMPPB	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	2673	GFPT1	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	1798	DPAGT1	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	85365	ALG2	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	85365	ALG2	OMIM:616228
HP:0001446	Abnormality of the musculature of the upper limbs	199857	ALG14	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	10059	DNM1L	ORPHA:98673
HP:0001446	Abnormality of the musculature of the upper limbs	4976	OPA1	ORPHA:98673
HP:0001446	Abnormality of the musculature of the upper limbs	2316	FLNA	OMIM:305620
HP:0001446	Abnormality of the musculature of the upper limbs	23347	SMCHD1	OMIM:158901
HP:0001446	Abnormality of the musculature of the upper limbs	55870	ASH1L	OMIM:617796
HP:0001446	Abnormality of the musculature of the upper limbs	8878	SQSTM1	OMIM:617158
HP:0001446	Abnormality of the musculature of the upper limbs	64856	VWA1	OMIM:619216
HP:0001446	Abnormality of the musculature of the upper limbs	311	ANXA11	OMIM:619733
HP:0001446	Abnormality of the musculature of the upper limbs	4604	MYBPC1	OMIM:618524
HP:0001446	Abnormality of the musculature of the upper limbs	2138	EYA1	ORPHA:2792
HP:0001446	Abnormality of the musculature of the upper limbs	2138	EYA1	OMIM:166780
HP:0001446	Abnormality of the musculature of the upper limbs	5075	PAX1	ORPHA:2792
HP:0001446	Abnormality of the musculature of the upper limbs	5075	PAX1	OMIM:615560
HP:0001446	Abnormality of the musculature of the upper limbs	3759	KCNJ2	OMIM:170390
HP:0001446	Abnormality of the musculature of the upper limbs	5077	PAX3	OMIM:148820
HP:0001446	Abnormality of the musculature of the upper limbs	4620	MYH2	OMIM:605637
HP:0001446	Abnormality of the musculature of the upper limbs	80324	PUS1	OMIM:600462
HP:0001446	Abnormality of the musculature of the upper limbs	1303	COL12A1	OMIM:616471
HP:0001446	Abnormality of the musculature of the upper limbs	1303	COL12A1	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	83636	C19orf12	OMIM:614298
HP:0001446	Abnormality of the musculature of the upper limbs	23545	ATP6V0A2	OMIM:278250
HP:0001446	Abnormality of the musculature of the upper limbs	200734	SPRED2	OMIM:619745
HP:0001446	Abnormality of the musculature of the upper limbs	9531	BAG3	OMIM:612954
HP:0001446	Abnormality of the musculature of the upper limbs	2200	FBN1	OMIM:616914
HP:0001446	Abnormality of the musculature of the upper limbs	6445	SGCG	ORPHA:353
HP:0001446	Abnormality of the musculature of the upper limbs	84665	MYPN	OMIM:617336
HP:0001446	Abnormality of the musculature of the upper limbs	84665	MYPN	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	5781	PTPN11	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	5781	PTPN11	OMIM:151100
HP:0001446	Abnormality of the musculature of the upper limbs	673	BRAF	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	5894	RAF1	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	7204	TRIO	OMIM:617061
HP:0001446	Abnormality of the musculature of the upper limbs	10220	GDF11	OMIM:619122
HP:0001446	Abnormality of the musculature of the upper limbs	163175	LGI4	OMIM:617468
HP:0001446	Abnormality of the musculature of the upper limbs	1291	COL6A1	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	1292	COL6A2	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	1293	COL6A3	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	11117	EMILIN1	OMIM:620080
HP:0001446	Abnormality of the musculature of the upper limbs	56983	POGLUT1	OMIM:617232
HP:0001446	Abnormality of the musculature of the upper limbs	57479	PRR12	OMIM:619539
HP:0001446	Abnormality of the musculature of the upper limbs	390594	KBTBD13	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	10324	KLHL41	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	2317	FLNB	OMIM:272460
HP:0001446	Abnormality of the musculature of the upper limbs	29954	POMT2	ORPHA:206559
HP:0001446	Abnormality of the musculature of the upper limbs	23676	SMPX	OMIM:301075
HP:0001446	Abnormality of the musculature of the upper limbs	7043	TGFB3	OMIM:615582
HP:0001446	Abnormality of the musculature of the upper limbs	10801	SEPTIN9	ORPHA:2901
HP:0001446	Abnormality of the musculature of the upper limbs	7227	TRPS1	OMIM:190350
HP:0001446	Abnormality of the musculature of the upper limbs	257	ALX3	OMIM:136760
HP:0001446	Abnormality of the musculature of the upper limbs	8092	ALX1	ORPHA:306542
HP:0001446	Abnormality of the musculature of the upper limbs	59345	GNB4	OMIM:615185
HP:0001446	Abnormality of the musculature of the upper limbs	7143	TNR	OMIM:619653
HP:0001446	Abnormality of the musculature of the upper limbs	10516	FBLN5	OMIM:619764
HP:0001446	Abnormality of the musculature of the upper limbs	65250	CPLANE1	ORPHA:65684
HP:0001446	Abnormality of the musculature of the upper limbs	57562	CEP126	ORPHA:65684
HP:0001446	Abnormality of the musculature of the upper limbs	64423	INF2	OMIM:614455
HP:0001446	Abnormality of the musculature of the upper limbs	7453	WARS1	OMIM:617721
HP:0001446	Abnormality of the musculature of the upper limbs	7072	TIA1	ORPHA:603
HP:0001446	Abnormality of the musculature of the upper limbs	9990	SLC12A6	OMIM:620068
HP:0001446	Abnormality of the musculature of the upper limbs	10755	GIPC1	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	1785	DNM2	OMIM:160150
HP:0001446	Abnormality of the musculature of the upper limbs	64419	MTMR14	OMIM:160150
HP:0001446	Abnormality of the musculature of the upper limbs	6444	SGCD	ORPHA:219
HP:0001446	Abnormality of the musculature of the upper limbs	8557	TCAP	OMIM:601954
HP:0001446	Abnormality of the musculature of the upper limbs	2010	EMD	ORPHA:98863
HP:0001446	Abnormality of the musculature of the upper limbs	79188	TMEM43	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	23345	SYNE1	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	23224	SYNE2	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	6885	MAP3K7	ORPHA:1826
HP:0001446	Abnormality of the musculature of the upper limbs	9939	RBM8A	OMIM:274000
HP:0001446	Abnormality of the musculature of the upper limbs	55768	NGLY1	OMIM:615273
HP:0001446	Abnormality of the musculature of the upper limbs	23321	TRIM2	OMIM:615490
HP:0001446	Abnormality of the musculature of the upper limbs	374969	SVBP	OMIM:618569
HP:0001446	Abnormality of the musculature of the upper limbs	1678	TIMM8A	OMIM:304700
HP:0001446	Abnormality of the musculature of the upper limbs	547	KIF1A	OMIM:614213
HP:0001446	Abnormality of the musculature of the upper limbs	57716	PRX	OMIM:614895
HP:0001446	Abnormality of the musculature of the upper limbs	400916	CHCHD10	ORPHA:276435
HP:0001446	Abnormality of the musculature of the upper limbs	4359	MPZ	ORPHA:3115
HP:0001446	Abnormality of the musculature of the upper limbs	339855	KY	ORPHA:496689
HP:0001446	Abnormality of the musculature of the upper limbs	3991	LIPE	ORPHA:435660
HP:0001446	Abnormality of the musculature of the upper limbs	4618	MYF6	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	3714	JAG2	OMIM:619566
HP:0001446	Abnormality of the musculature of the upper limbs	3908	LAMA2	OMIM:618138
HP:0001446	Abnormality of the musculature of the upper limbs	1371	CPOX	ORPHA:79273
HP:0001446	Abnormality of the musculature of the upper limbs	23175	LPIN1	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	4512	MT-CO1	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	4514	MT-CO3	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	5498	PPOX	ORPHA:79473
HP:0001446	Abnormality of the musculature of the upper limbs	3145	HMBS	ORPHA:79276
HP:0001446	Abnormality of the musculature of the upper limbs	389827	MYMK	OMIM:254940
HP:0001446	Abnormality of the musculature of the upper limbs	55958	KLHL9	ORPHA:399081
HP:0001446	Abnormality of the musculature of the upper limbs	10280	SIGMAR1	OMIM:614373
HP:0001446	Abnormality of the musculature of the upper limbs	11155	LDB3	ORPHA:98912
HP:0001446	Abnormality of the musculature of the upper limbs	6786	STIM1	OMIM:160565
HP:0001446	Abnormality of the musculature of the upper limbs	57167	SALL4	OMIM:607323
HP:0001446	Abnormality of the musculature of the upper limbs	2273	FHL1	OMIM:300695
HP:0001446	Abnormality of the musculature of the upper limbs	825	CAPN3	ORPHA:267
HP:0001446	Abnormality of the musculature of the upper limbs	2218	FKTN	OMIM:611588
HP:0001446	Abnormality of the musculature of the upper limbs	59341	TRPV4	OMIM:181405
HP:0001446	Abnormality of the musculature of the upper limbs	10397	NDRG1	ORPHA:99950
HP:0001446	Abnormality of the musculature of the upper limbs	9420	CYP7B1	OMIM:270800
HP:0001446	Abnormality of the musculature of the upper limbs	9420	CYP7B1	ORPHA:100986
HP:0001446	Abnormality of the musculature of the upper limbs	3798	KIF5A	ORPHA:100991
HP:0001446	Abnormality of the musculature of the upper limbs	7994	KAT6A	OMIM:616268
HP:0001446	Abnormality of the musculature of the upper limbs	4744	NEFH	OMIM:616924
HP:0001446	Abnormality of the musculature of the upper limbs	3315	HSPB1	OMIM:606595
HP:0001446	Abnormality of the musculature of the upper limbs	3315	HSPB1	ORPHA:99940
HP:0001446	Abnormality of the musculature of the upper limbs	3098	HK1	ORPHA:99953
HP:0001446	Abnormality of the musculature of the upper limbs	4141	MARS1	OMIM:616280
HP:0001446	Abnormality of the musculature of the upper limbs	284058	KANSL1	ORPHA:363965
HP:0001446	Abnormality of the musculature of the upper limbs	284058	KANSL1	ORPHA:363958
HP:0001446	Abnormality of the musculature of the upper limbs	3094	HINT1	ORPHA:324442
HP:0001446	Abnormality of the musculature of the upper limbs	57679	ALS2	OMIM:205100
HP:0001446	Abnormality of the musculature of the upper limbs	80199	FUZ	ORPHA:1136
HP:0001446	Abnormality of the musculature of the upper limbs	10342	TFG	OMIM:615658
HP:0001446	Abnormality of the musculature of the upper limbs	89874	SLC25A21	OMIM:618811
HP:0001446	Abnormality of the musculature of the upper limbs	1639	DCTN1	OMIM:607641
HP:0001446	Abnormality of the musculature of the upper limbs	4000	LMNA	ORPHA:98856
HP:0001446	Abnormality of the musculature of the upper limbs	4747	NEFL	OMIM:607684
HP:0001446	Abnormality of the musculature of the upper limbs	4747	NEFL	ORPHA:101085
HP:0001446	Abnormality of the musculature of the upper limbs	113278	SLC52A3	OMIM:211530
HP:0001446	Abnormality of the musculature of the upper limbs	2395	FXN	ORPHA:95
HP:0001446	Abnormality of the musculature of the upper limbs	5980	REV3L	ORPHA:570
HP:0001446	Abnormality of the musculature of the upper limbs	23129	PLXND1	ORPHA:570
HP:0001446	Abnormality of the musculature of the upper limbs	6926	TBX3	ORPHA:3138
HP:0001446	Abnormality of the musculature of the upper limbs	101929726	MYMX	ORPHA:1358
HP:0001446	Abnormality of the musculature of the upper limbs	4010	LMX1B	OMIM:161200
HP:0001446	Abnormality of the musculature of the upper limbs	29926	GMPPA	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	60684	TRAPPC11	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	8086	AAAS	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	6135	RPL11	OMIM:612562
HP:0001446	Abnormality of the musculature of the upper limbs	9775	EIF4A3	OMIM:268305
HP:0001446	Abnormality of the musculature of the upper limbs	121512	FGD4	OMIM:609311
HP:0001446	Abnormality of the musculature of the upper limbs	8988	HSPB3	OMIM:613376
HP:0001446	Abnormality of the musculature of the upper limbs	859	CAV3	OMIM:614321
HP:0001446	Abnormality of the musculature of the upper limbs	81846	SBF2	ORPHA:99956
HP:0001446	Abnormality of the musculature of the upper limbs	7084	TK2	ORPHA:254886
HP:0001446	Abnormality of the musculature of the upper limbs	2705	GJB1	OMIM:302800
HP:0001446	Abnormality of the musculature of the upper limbs	22880	MORC2	ORPHA:466768
HP:0001446	Abnormality of the musculature of the upper limbs	3035	HARS1	ORPHA:488333
HP:0001446	Abnormality of the musculature of the upper limbs	8292	COLQ	ORPHA:98915
HP:0001446	Abnormality of the musculature of the upper limbs	3913	LAMB2	ORPHA:98915
HP:0001446	Abnormality of the musculature of the upper limbs	8565	YARS1	OMIM:608323
HP:0001446	Abnormality of the musculature of the upper limbs	81545	FBXO38	OMIM:615575
HP:0001446	Abnormality of the musculature of the upper limbs	8291	DYSF	ORPHA:45448
HP:0001446	Abnormality of the musculature of the upper limbs	122622	ADSS1	ORPHA:482601
HP:0001446	Abnormality of the musculature of the upper limbs	9927	MFN2	ORPHA:99947
HP:0001446	Abnormality of the musculature of the upper limbs	10585	POMT1	ORPHA:86812
HP:0001446	Abnormality of the musculature of the upper limbs	6329	SCN4A	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1134	CHRNA1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	4038	LRP4	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1305	COL13A1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1140	CHRNB1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1144	CHRND	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1145	CHRNE	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	4593	MUSK	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	5913	RAPSN	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	375790	AGRN	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	221264	AK9	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	285489	DOK7	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	4625	MYH7	ORPHA:437572
HP:0001446	Abnormality of the musculature of the upper limbs	182	JAG1	OMIM:619574
HP:0001446	Abnormality of the musculature of the upper limbs	57863	CADM3	OMIM:619519
HP:0001446	Abnormality of the musculature of the upper limbs	5339	PLEC	ORPHA:254361
HP:0001446	Abnormality of the musculature of the upper limbs	283989	TSEN54	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	116461	TSEN15	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	79042	TSEN34	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	80746	TSEN2	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	51091	SEPSECS	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	55149	MTPAP	OMIM:613672
HP:0001446	Abnormality of the musculature of the upper limbs	55149	MTPAP	ORPHA:254343
HP:0001446	Abnormality of the musculature of the upper limbs	6687	SPG7	OMIM:607259
HP:0001446	Abnormality of the musculature of the upper limbs	137492	VPS37A	ORPHA:319199
HP:0001446	Abnormality of the musculature of the upper limbs	137492	VPS37A	OMIM:614898
HP:0001446	Abnormality of the musculature of the upper limbs	5010	CLDN11	OMIM:619328
HP:0011662	Tricuspid atresia	5337	PLD1	OMIM:212093
HP:0011662	Tricuspid atresia	4613	MYCN	OMIM:164280
HP:0011662	Tricuspid atresia	4613	MYCN	ORPHA:391641
HP:0011662	Tricuspid atresia	54916	TMEM260	OMIM:617478
HP:0011662	Tricuspid atresia	1312	COMT	ORPHA:567
HP:0011662	Tricuspid atresia	221037	JMJD1C	ORPHA:567
HP:0011662	Tricuspid atresia	2812	GP1BB	ORPHA:567
HP:0011662	Tricuspid atresia	6239	RREB1	ORPHA:567
HP:0011662	Tricuspid atresia	6899	TBX1	ORPHA:567
HP:0011662	Tricuspid atresia	7290	HIRA	ORPHA:567
HP:0011662	Tricuspid atresia	9632	SEC24C	ORPHA:567
HP:0011662	Tricuspid atresia	7353	UFD1	ORPHA:567
HP:0011662	Tricuspid atresia	421	ARVCF	ORPHA:567
HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	137814	NKX2-6	ORPHA:3384
HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	23129	PLXND1	ORPHA:3384
HP:0011664	Left ventricular noncompaction cardiomyopathy	57534	MIB1	OMIM:615092
HP:0011664	Left ventricular noncompaction cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0011664	Left ventricular noncompaction cardiomyopathy	1837	DTNA	OMIM:604169
HP:0011664	Left ventricular noncompaction cardiomyopathy	6262	RYR2	OMIM:115000
HP:0011664	Left ventricular noncompaction cardiomyopathy	4841	NONO	OMIM:300967
HP:0011664	Left ventricular noncompaction cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0011664	Left ventricular noncompaction cardiomyopathy	7168	TPM1	OMIM:611878
HP:0011664	Left ventricular noncompaction cardiomyopathy	4633	MYL2	OMIM:619424
HP:0011664	Left ventricular noncompaction cardiomyopathy	93649	MYOCD	OMIM:618719
HP:0011665	Takotsubo cardiomyopathy	135	ADORA2A	ORPHA:363549
HP:0011663	Right ventricular cardiomyopathy	79188	TMEM43	OMIM:604400
HP:0011663	Right ventricular cardiomyopathy	3728	JUP	OMIM:601214
HP:0011663	Right ventricular cardiomyopathy	3728	JUP	OMIM:611528
HP:0011663	Right ventricular cardiomyopathy	1829	DSG2	OMIM:610193
HP:0011663	Right ventricular cardiomyopathy	5318	PKP2	OMIM:609040
HP:0011663	Right ventricular cardiomyopathy	1824	DSC2	OMIM:610476
HP:0011663	Right ventricular cardiomyopathy	7043	TGFB3	OMIM:107970
HP:0011663	Right ventricular cardiomyopathy	1832	DSP	OMIM:607450
HP:0011668	Bilateral superior vena cava with no bridging vein	54892	NCAPG2	OMIM:618460
HP:0011669	Left superior vena cava draining directly to the left atrium	4087	SMAD2	OMIM:619657
HP:0011669	Left superior vena cava draining directly to the left atrium	8772	FADD	OMIM:613759
HP:0008606	Supraauricular pit	7020	TFAP2A	OMIM:113620
HP:0008606	Supraauricular pit	7020	TFAP2A	ORPHA:1297
HP:0008605	Unilateral external ear deformity	10992	SF3B2	OMIM:164210
HP:0008608	Hypertrophic auricular cartilage	1836	SLC26A2	OMIM:222600
HP:0008607	Progressive conductive hearing impairment	9241	NOG	OMIM:186500
HP:0008607	Progressive conductive hearing impairment	5718	PSMD12	ORPHA:529962
HP:0008607	Progressive conductive hearing impairment	2186	BPTF	ORPHA:529962
HP:0008609	Morphological abnormality of the middle ear	5718	PSMD12	ORPHA:529962
HP:0008609	Morphological abnormality of the middle ear	2186	BPTF	ORPHA:529962
HP:0008609	Morphological abnormality of the middle ear	392255	GDF6	OMIM:617898
HP:0008609	Morphological abnormality of the middle ear	3423	IDS	ORPHA:217085
HP:0008609	Morphological abnormality of the middle ear	3423	IDS	ORPHA:217093
HP:0008609	Morphological abnormality of the middle ear	1277	COL1A1	OMIM:166220
HP:0008609	Morphological abnormality of the middle ear	1277	COL1A1	OMIM:166200
HP:0008609	Morphological abnormality of the middle ear	1278	COL1A2	OMIM:166220
HP:0008609	Morphological abnormality of the middle ear	9241	NOG	OMIM:186500
HP:0008609	Morphological abnormality of the middle ear	9241	NOG	OMIM:184460
HP:0008609	Morphological abnormality of the middle ear	9241	NOG	OMIM:185800
HP:0008609	Morphological abnormality of the middle ear	5456	POU3F4	OMIM:304400
HP:0008609	Morphological abnormality of the middle ear	5456	POU3F4	ORPHA:1435
HP:0008609	Morphological abnormality of the middle ear	10804	GJB6	OMIM:304400
HP:0008609	Morphological abnormality of the middle ear	2706	GJB2	OMIM:304400
HP:0008609	Morphological abnormality of the middle ear	5885	RAD21	OMIM:614701
HP:0008609	Morphological abnormality of the middle ear	3590	IL11RA	OMIM:614188
HP:0008609	Morphological abnormality of the middle ear	5167	ENPP1	ORPHA:51608
HP:0008609	Morphological abnormality of the middle ear	368	ABCC6	ORPHA:51608
HP:0008609	Morphological abnormality of the middle ear	4854	NOTCH3	OMIM:130720
HP:0008609	Morphological abnormality of the middle ear	4854	NOTCH3	ORPHA:2789
HP:0008609	Morphological abnormality of the middle ear	147912	SIX5	ORPHA:107
HP:0008609	Morphological abnormality of the middle ear	7020	TFAP2A	OMIM:113620
HP:0008609	Morphological abnormality of the middle ear	51082	POLR1D	OMIM:613717
HP:0008609	Morphological abnormality of the middle ear	6885	MAP3K7	OMIM:157800
HP:0008609	Morphological abnormality of the middle ear	2138	EYA1	ORPHA:52429
HP:0008609	Morphological abnormality of the middle ear	6495	SIX1	ORPHA:52429
HP:0008609	Morphological abnormality of the middle ear	9343	EFTUD2	ORPHA:79113
HP:0008609	Morphological abnormality of the middle ear	80144	FRAS1	OMIM:219000
HP:0008609	Morphological abnormality of the middle ear	10743	RAI1	OMIM:182290
HP:0008609	Morphological abnormality of the middle ear	26040	SETBP1	ORPHA:798
HP:0008609	Morphological abnormality of the middle ear	6850	SYK	OMIM:619381
HP:0008609	Morphological abnormality of the middle ear	4784	NFIX	OMIM:602535
HP:0008609	Morphological abnormality of the middle ear	9382	COG1	OMIM:611209
HP:0008609	Morphological abnormality of the middle ear	7080	NKX2-1	OMIM:610978
HP:0008609	Morphological abnormality of the middle ear	4921	DDR2	OMIM:618175
HP:0008609	Morphological abnormality of the middle ear	54914	FOCAD	OMIM:619991
HP:0008609	Morphological abnormality of the middle ear	64324	NSD1	ORPHA:821
HP:0008609	Morphological abnormality of the middle ear	29072	SETD2	ORPHA:821
HP:0008609	Morphological abnormality of the middle ear	10297	APC2	ORPHA:821
HP:0008609	Morphological abnormality of the middle ear	10735	STAG2	OMIM:301022
HP:0008609	Morphological abnormality of the middle ear	326	AIRE	OMIM:240300
HP:0008610	Infantile sensorineural hearing impairment	1757	SARDH	ORPHA:3129
HP:0008610	Infantile sensorineural hearing impairment	10216	PRG4	ORPHA:2848
HP:0008610	Infantile sensorineural hearing impairment	54820	NDE1	ORPHA:2177
HP:0008610	Infantile sensorineural hearing impairment	7084	TK2	ORPHA:254875
HP:0008610	Infantile sensorineural hearing impairment	26040	SETBP1	ORPHA:798
HP:0001450	Y-linked inheritance	57055	DAZ2	OMIM:415000
HP:0001450	Y-linked inheritance	5940	RBMY1A1	OMIM:415000
HP:0001450	Y-linked inheritance	9082	XKRY	OMIM:415000
HP:0001450	Y-linked inheritance	57054	DAZ3	OMIM:415000
HP:0001450	Y-linked inheritance	1617	DAZ1	OMIM:415000
HP:0001450	Y-linked inheritance	8284	KDM5D	OMIM:415000
HP:0001450	Y-linked inheritance	442862	PRY2	OMIM:415000
HP:0001450	Y-linked inheritance	9081	PRY	OMIM:415000
HP:0001450	Y-linked inheritance	140032	RPS4Y2	OMIM:415000
HP:0001450	Y-linked inheritance	9426	CDY2A	OMIM:415000
HP:0001450	Y-linked inheritance	9083	BPY2	OMIM:415000
HP:0001450	Y-linked inheritance	86614	HSFY1	OMIM:415000
HP:0001450	Y-linked inheritance	9084	VCY	OMIM:415000
HP:0001450	Y-linked inheritance	8287	USP9Y	OMIM:415000
HP:0001450	Y-linked inheritance	9085	CDY1	OMIM:415000
HP:0001450	Y-linked inheritance	8653	DDX3Y	OMIM:415000
HP:0001450	Y-linked inheritance	6736	SRY	OMIM:400044
HP:0001450	Y-linked inheritance	90665	TBL1Y	OMIM:400047
HP:0001454	Abnormality of the upper arm	9791	PTDSS1	OMIM:151050
HP:0001454	Abnormality of the upper arm	6913	TBX15	OMIM:260660
HP:0001454	Abnormality of the upper arm	6913	TBX15	ORPHA:93333
HP:0001454	Abnormality of the upper arm	5447	POR	OMIM:201750
HP:0001454	Abnormality of the upper arm	5447	POR	OMIM:207410
HP:0001454	Abnormality of the upper arm	5447	POR	ORPHA:95699
HP:0001454	Abnormality of the upper arm	9241	NOG	OMIM:186570
HP:0001454	Abnormality of the upper arm	2260	FGFR1	OMIM:101600
HP:0001454	Abnormality of the upper arm	2263	FGFR2	OMIM:101600
HP:0001454	Abnormality of the upper arm	2263	FGFR2	OMIM:207410
HP:0001454	Abnormality of the upper arm	2263	FGFR2	OMIM:101200
HP:0001454	Abnormality of the upper arm	7476	WNT7A	ORPHA:2879
HP:0001454	Abnormality of the upper arm	7476	WNT7A	OMIM:276820
HP:0001454	Abnormality of the upper arm	56603	CYP26B1	OMIM:614416
HP:0001454	Abnormality of the upper arm	2254	FGF9	OMIM:612961
HP:0001454	Abnormality of the upper arm	8200	GDF5	OMIM:610017
HP:0001454	Abnormality of the upper arm	29980	DONSON	OMIM:251230
HP:0001454	Abnormality of the upper arm	6473	SHOX	ORPHA:240
HP:0001454	Abnormality of the upper arm	6473	SHOX	OMIM:127300
HP:0001454	Abnormality of the upper arm	6910	TBX5	ORPHA:392
HP:0001454	Abnormality of the upper arm	9555	MACROH2A1	ORPHA:1275
HP:0001454	Abnormality of the upper arm	5307	PITX1	ORPHA:1275
HP:0001454	Abnormality of the upper arm	7040	TGFB1	ORPHA:1328
HP:0001454	Abnormality of the upper arm	6926	TBX3	ORPHA:3138
HP:0001454	Abnormality of the upper arm	649	BMP1	OMIM:614856
HP:0001454	Abnormality of the upper arm	90993	CREB3L1	OMIM:616229
HP:0001454	Abnormality of the upper arm	1836	SLC26A2	OMIM:256050
HP:0001454	Abnormality of the upper arm	100151683	RNU4ATAC	OMIM:210710
HP:0001454	Abnormality of the upper arm	3930	LBR	OMIM:618019
HP:0001454	Abnormality of the upper arm	6678	SPARC	OMIM:616507
HP:0001454	Abnormality of the upper arm	9851	KIAA0753	OMIM:619479
HP:0001454	Abnormality of the upper arm	3911	LAMA5	OMIM:620076
HP:0001454	Abnormality of the upper arm	126792	B3GALT6	OMIM:609465
HP:0001454	Abnormality of the upper arm	340419	RSPO2	OMIM:618022
HP:0001454	Abnormality of the upper arm	538	ATP7A	ORPHA:198
HP:0001454	Abnormality of the upper arm	10847	SRCAP	ORPHA:2044
HP:0001454	Abnormality of the upper arm	26175	LYSET	OMIM:619345
HP:0001454	Abnormality of the upper arm	1280	COL2A1	ORPHA:166011
HP:0001454	Abnormality of the upper arm	5593	PRKG2	OMIM:619636
HP:0001454	Abnormality of the upper arm	4796	TONSL	ORPHA:93357
HP:0001454	Abnormality of the upper arm	2317	FLNB	ORPHA:56305
HP:0001454	Abnormality of the upper arm	59341	TRPV4	ORPHA:93314
HP:0001454	Abnormality of the upper arm	2778	GNAS	ORPHA:94089
HP:0001454	Abnormality of the upper arm	8675	STX16	ORPHA:94089
HP:0001454	Abnormality of the upper arm	2146	EZH2	OMIM:277590
HP:0001454	Abnormality of the upper arm	54808	DYM	OMIM:223800
HP:0001454	Abnormality of the upper arm	2535	FZD2	OMIM:164745
HP:0001454	Abnormality of the upper arm	10082	GPC6	OMIM:258315
HP:0001454	Abnormality of the upper arm	10082	GPC6	ORPHA:93329
HP:0001454	Abnormality of the upper arm	9361	LONP1	OMIM:600373
HP:0001454	Abnormality of the upper arm	64327	LMBR1	OMIM:200500
HP:0001454	Abnormality of the upper arm	64327	LMBR1	ORPHA:931
HP:0001454	Abnormality of the upper arm	6628	SNRPB	OMIM:117650
HP:0001454	Abnormality of the upper arm	10588	MTHFS	OMIM:618367
HP:0001454	Abnormality of the upper arm	23483	TGDS	OMIM:616145
HP:0001454	Abnormality of the upper arm	11128	POLR3A	OMIM:264090
HP:0001454	Abnormality of the upper arm	11128	POLR3A	ORPHA:3455
HP:0001454	Abnormality of the upper arm	57167	SALL4	OMIM:607323
HP:0001454	Abnormality of the upper arm	57167	SALL4	ORPHA:959
HP:0001454	Abnormality of the upper arm	55764	IFT122	OMIM:218330
HP:0001454	Abnormality of the upper arm	79087	ALG12	OMIM:607143
HP:0001454	Abnormality of the upper arm	157570	ESCO2	OMIM:268300
HP:0001454	Abnormality of the upper arm	4982	TNFRSF11B	OMIM:239000
HP:0001454	Abnormality of the upper arm	114803	MYSM1	ORPHA:508542
HP:0001454	Abnormality of the upper arm	8540	AGPS	OMIM:600121
HP:0001454	Abnormality of the upper arm	9401	RECQL4	OMIM:218600
HP:0001454	Abnormality of the upper arm	3549	IHH	OMIM:607778
HP:0001454	Abnormality of the upper arm	2187	FANCB	OMIM:314390
HP:0001454	Abnormality of the upper arm	7547	ZIC3	OMIM:314390
HP:0001454	Abnormality of the upper arm	8802	SUCLG1	ORPHA:17
HP:0001454	Abnormality of the upper arm	2316	FLNA	OMIM:309350
HP:0001454	Abnormality of the upper arm	5830	PEX5	OMIM:616716
HP:0001454	Abnormality of the upper arm	79158	GNPTAB	OMIM:252500
HP:0001454	Abnormality of the upper arm	9939	RBM8A	ORPHA:3320
HP:0001454	Abnormality of the upper arm	9939	RBM8A	OMIM:274000
HP:0001454	Abnormality of the upper arm	145258	GSC	OMIM:602471
HP:0001454	Abnormality of the upper arm	8443	GNPAT	OMIM:222765
HP:0001454	Abnormality of the upper arm	22880	MORC2	ORPHA:466768
HP:0001454	Abnormality of the upper arm	1785	DNM2	OMIM:160150
HP:0001454	Abnormality of the upper arm	64419	MTMR14	OMIM:160150
HP:0001454	Abnormality of the upper arm	4000	LMNA	OMIM:613205
HP:0001454	Abnormality of the upper arm	4000	LMNA	ORPHA:98855
HP:0001454	Abnormality of the upper arm	4000	LMNA	ORPHA:98853
HP:0001454	Abnormality of the upper arm	6444	SGCD	ORPHA:219
HP:0001454	Abnormality of the upper arm	8557	TCAP	OMIM:601954
HP:0001454	Abnormality of the upper arm	9987	HNRNPDL	OMIM:609115
HP:0001454	Abnormality of the upper arm	2273	FHL1	ORPHA:98863
HP:0001454	Abnormality of the upper arm	2010	EMD	ORPHA:98863
HP:0001454	Abnormality of the upper arm	79188	TMEM43	ORPHA:98853
HP:0001454	Abnormality of the upper arm	23345	SYNE1	ORPHA:98853
HP:0001454	Abnormality of the upper arm	23224	SYNE2	ORPHA:98853
HP:0001454	Abnormality of the upper arm	4010	LMX1B	OMIM:161200
HP:0001457	Abnormality of the musculature of the upper arm	59341	TRPV4	OMIM:606071
HP:0001457	Abnormality of the musculature of the upper arm	22880	MORC2	ORPHA:466768
HP:0001457	Abnormality of the musculature of the upper arm	1785	DNM2	OMIM:160150
HP:0001457	Abnormality of the musculature of the upper arm	64419	MTMR14	OMIM:160150
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	OMIM:613205
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	ORPHA:98855
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	6444	SGCD	ORPHA:219
HP:0001457	Abnormality of the musculature of the upper arm	8557	TCAP	OMIM:601954
HP:0001457	Abnormality of the musculature of the upper arm	9987	HNRNPDL	OMIM:609115
HP:0001457	Abnormality of the musculature of the upper arm	2273	FHL1	ORPHA:98863
HP:0001457	Abnormality of the musculature of the upper arm	2010	EMD	ORPHA:98863
HP:0001457	Abnormality of the musculature of the upper arm	79188	TMEM43	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	23345	SYNE1	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	23224	SYNE2	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	4010	LMX1B	OMIM:161200
HP:0001459	1-3 toe syndactyly	2737	GLI3	OMIM:175700
HP:0011671	Interrupted inferior vena cava with azygous continuation	51780	KDM3B	OMIM:618846
HP:0011671	Interrupted inferior vena cava with azygous continuation	93	ACVR2B	OMIM:613751
HP:0011671	Interrupted inferior vena cava with azygous continuation	64093	SMOC1	OMIM:206920
HP:0011671	Interrupted inferior vena cava with azygous continuation	1770	DNAH9	OMIM:618300
HP:0011671	Interrupted inferior vena cava with azygous continuation	118856	MMP21	OMIM:616749
HP:0011672	Cardiac myxoma	5573	PRKAR1A	OMIM:160980
HP:0011672	Cardiac myxoma	5573	PRKAR1A	ORPHA:189439
HP:0011672	Cardiac myxoma	5573	PRKAR1A	ORPHA:615
HP:0011672	Cardiac myxoma	5573	PRKAR1A	ORPHA:1359
HP:0011672	Cardiac myxoma	5573	PRKAR1A	OMIM:255960
HP:0011672	Cardiac myxoma	284252	KCTD1	OMIM:181270
HP:0011672	Cardiac myxoma	5566	PRKACA	ORPHA:189439
HP:0011672	Cardiac myxoma	8622	PDE8B	ORPHA:189439
HP:0011672	Cardiac myxoma	50940	PDE11A	ORPHA:189439
HP:0011672	Cardiac myxoma	50940	PDE11A	ORPHA:1359
HP:0011672	Cardiac myxoma	4626	MYH8	OMIM:608837
HP:0011670	Left superior vena cava draining to coronary sinus	7547	ZIC3	OMIM:306955
HP:0011670	Left superior vena cava draining to coronary sinus	55315	SLC29A3	OMIM:602782
HP:0011670	Left superior vena cava draining to coronary sinus	81857	MED25	ORPHA:464738
HP:0011670	Left superior vena cava draining to coronary sinus	100128908	CIROP	OMIM:619702
HP:0011670	Left superior vena cava draining to coronary sinus	5567	PRKACB	OMIM:619143
HP:0000385	Small earlobe	3187	HNRNPH1	OMIM:620083
HP:0000385	Small earlobe	6611	SMS	ORPHA:3063
HP:0000385	Small earlobe	253738	EBF3	OMIM:617330
HP:0000385	Small earlobe	5792	PTPRF	OMIM:616001
HP:0000385	Small earlobe	51099	ABHD5	ORPHA:98907
HP:0000385	Small earlobe	2335	FN1	ORPHA:93315
HP:0000385	Small earlobe	1280	COL2A1	ORPHA:93315
HP:0000385	Small earlobe	7994	KAT6A	OMIM:616268
HP:0000385	Small earlobe	284252	KCTD1	ORPHA:2036
HP:0000385	Small earlobe	284252	KCTD1	OMIM:181270
HP:0000385	Small earlobe	11128	POLR3A	OMIM:264090
HP:0000385	Small earlobe	1312	COMT	ORPHA:567
HP:0000385	Small earlobe	221037	JMJD1C	ORPHA:567
HP:0000385	Small earlobe	2812	GP1BB	ORPHA:567
HP:0000385	Small earlobe	6239	RREB1	ORPHA:567
HP:0000385	Small earlobe	6899	TBX1	ORPHA:567
HP:0000385	Small earlobe	7290	HIRA	ORPHA:567
HP:0000385	Small earlobe	9632	SEC24C	ORPHA:567
HP:0000385	Small earlobe	7353	UFD1	ORPHA:567
HP:0000385	Small earlobe	421	ARVCF	ORPHA:567
HP:0000385	Small earlobe	9896	FIG4	OMIM:216340
HP:0000385	Small earlobe	91179	SCARF2	OMIM:600920
HP:0000385	Small earlobe	7750	ZMYM2	OMIM:619522
HP:0000385	Small earlobe	27245	AHDC1	ORPHA:412069
HP:0000385	Small earlobe	27245	AHDC1	OMIM:615829
HP:0000385	Small earlobe	990	CDC6	OMIM:613805
HP:0000385	Small earlobe	55343	SLC35C1	ORPHA:99843
HP:0000385	Small earlobe	8241	RBM10	ORPHA:2886
HP:0000403	Recurrent otitis media	100	ADA	ORPHA:277
HP:0000403	Recurrent otitis media	4791	NFKB2	ORPHA:293978
HP:0000403	Recurrent otitis media	4791	NFKB2	OMIM:615577
HP:0000403	Recurrent otitis media	3071	NCKAP1L	OMIM:618982
HP:0000403	Recurrent otitis media	8367	H4C5	OMIM:619950
HP:0000403	Recurrent otitis media	5728	PTEN	OMIM:605309
HP:0000403	Recurrent otitis media	5880	RAC2	OMIM:618986
HP:0000403	Recurrent otitis media	987	LRBA	OMIM:614700
HP:0000403	Recurrent otitis media	64682	ANAPC1	OMIM:618625
HP:0000403	Recurrent otitis media	7174	TPP2	ORPHA:444463
HP:0000403	Recurrent otitis media	7174	TPP2	OMIM:619220
HP:0000403	Recurrent otitis media	9839	ZEB2	OMIM:235730
HP:0000403	Recurrent otitis media	9839	ZEB2	ORPHA:261552
HP:0000403	Recurrent otitis media	9839	ZEB2	ORPHA:261537
HP:0000403	Recurrent otitis media	80232	WDR26	ORPHA:513456
HP:0000403	Recurrent otitis media	80232	WDR26	OMIM:617616
HP:0000403	Recurrent otitis media	89765	RSPH1	OMIM:615481
HP:0000403	Recurrent otitis media	89765	RSPH1	ORPHA:244
HP:0000403	Recurrent otitis media	161582	DNAAF4	OMIM:615482
HP:0000403	Recurrent otitis media	161582	DNAAF4	ORPHA:244
HP:0000403	Recurrent otitis media	9578	CDC42BPB	OMIM:619841
HP:0000403	Recurrent otitis media	4487	MSX1	ORPHA:199306
HP:0000403	Recurrent otitis media	5818	NECTIN1	ORPHA:199306
HP:0000403	Recurrent otitis media	1739	DLG1	ORPHA:199306
HP:0000403	Recurrent otitis media	652	BMP4	ORPHA:199306
HP:0000403	Recurrent otitis media	8626	TP63	ORPHA:199306
HP:0000403	Recurrent otitis media	8626	TP63	OMIM:129400
HP:0000403	Recurrent otitis media	999	CDH1	ORPHA:199306
HP:0000403	Recurrent otitis media	5156	PDGFRA	ORPHA:199306
HP:0000403	Recurrent otitis media	3664	IRF6	ORPHA:199306
HP:0000403	Recurrent otitis media	9411	ARHGAP29	ORPHA:199306
HP:0000403	Recurrent otitis media	1748	DLX4	ORPHA:199306
HP:0000403	Recurrent otitis media	51111	KMT5B	OMIM:617788
HP:0000403	Recurrent otitis media	146845	CFAP52	OMIM:619607
HP:0000403	Recurrent otitis media	973	CD79A	OMIM:613501
HP:0000403	Recurrent otitis media	3543	IGLL1	OMIM:613500
HP:0000403	Recurrent otitis media	6595	SMARCA2	ORPHA:2728
HP:0000403	Recurrent otitis media	144568	A2ML1	OMIM:166760
HP:0000403	Recurrent otitis media	29760	BLNK	OMIM:613502
HP:0000403	Recurrent otitis media	79158	GNPTAB	OMIM:252500
HP:0000403	Recurrent otitis media	8382	NME5	OMIM:620032
HP:0000403	Recurrent otitis media	1301	COL11A1	OMIM:154780
HP:0000403	Recurrent otitis media	54	ACP5	OMIM:607944
HP:0000403	Recurrent otitis media	56992	KIF15	ORPHA:261323
HP:0000403	Recurrent otitis media	23495	TNFRSF13B	OMIM:240500
HP:0000403	Recurrent otitis media	115650	TNFRSF13C	OMIM:240500
HP:0000403	Recurrent otitis media	1380	CR2	OMIM:240500
HP:0000403	Recurrent otitis media	29851	ICOS	OMIM:240500
HP:0000403	Recurrent otitis media	29851	ICOS	OMIM:607594
HP:0000403	Recurrent otitis media	930	CD19	OMIM:240500
HP:0000403	Recurrent otitis media	930	CD19	OMIM:613493
HP:0000403	Recurrent otitis media	123872	DNAAF1	OMIM:613193
HP:0000403	Recurrent otitis media	123872	DNAAF1	ORPHA:244
HP:0000403	Recurrent otitis media	284058	KANSL1	ORPHA:363958
HP:0000403	Recurrent otitis media	284058	KANSL1	ORPHA:363965
HP:0000403	Recurrent otitis media	3572	IL6ST	OMIM:618523
HP:0000403	Recurrent otitis media	8546	AP3B1	OMIM:608233
HP:0000403	Recurrent otitis media	1717	DHCR7	OMIM:270400
HP:0000403	Recurrent otitis media	6899	TBX1	OMIM:188400
HP:0000403	Recurrent otitis media	28755	TRAC	OMIM:615387
HP:0000403	Recurrent otitis media	6885	MAP3K7	OMIM:157800
HP:0000403	Recurrent otitis media	2783	GNB2	OMIM:619503
HP:0000403	Recurrent otitis media	3425	IDUA	OMIM:607014
HP:0000403	Recurrent otitis media	2214	FCGR3A	OMIM:615707
HP:0000403	Recurrent otitis media	30011	SH3KBP1	OMIM:300310
HP:0000403	Recurrent otitis media	2261	FGFR3	OMIM:616482
HP:0000403	Recurrent otitis media	2261	FGFR3	OMIM:100800
HP:0000403	Recurrent otitis media	2261	FGFR3	OMIM:602849
HP:0000403	Recurrent otitis media	83861	RSPH3	OMIM:616481
HP:0000403	Recurrent otitis media	83861	RSPH3	ORPHA:244
HP:0000403	Recurrent otitis media	56006	SMG9	OMIM:619995
HP:0000403	Recurrent otitis media	8260	NAA10	OMIM:309800
HP:0000403	Recurrent otitis media	8260	NAA10	OMIM:300855
HP:0000403	Recurrent otitis media	54880	BCOR	OMIM:309800
HP:0000403	Recurrent otitis media	54914	FOCAD	OMIM:619991
HP:0000403	Recurrent otitis media	6135	RPL11	OMIM:612562
HP:0000403	Recurrent otitis media	64446	DNAI2	OMIM:612444
HP:0000403	Recurrent otitis media	64446	DNAI2	ORPHA:244
HP:0000403	Recurrent otitis media	8364	H4C3	OMIM:619758
HP:0000403	Recurrent otitis media	54499	TMCO1	OMIM:213980
HP:0000403	Recurrent otitis media	55343	SLC35C1	OMIM:266265
HP:0000403	Recurrent otitis media	55343	SLC35C1	ORPHA:99843
HP:0000403	Recurrent otitis media	3507	IGHM	OMIM:601495
HP:0000403	Recurrent otitis media	8314	BAP1	OMIM:619762
HP:0000403	Recurrent otitis media	27086	FOXP1	ORPHA:391372
HP:0000403	Recurrent otitis media	5594	MAPK1	OMIM:619087
HP:0000403	Recurrent otitis media	5971	RELB	OMIM:617585
HP:0000403	Recurrent otitis media	4256	MGP	ORPHA:85202
HP:0000403	Recurrent otitis media	4256	MGP	OMIM:245150
HP:0000403	Recurrent otitis media	974	CD79B	OMIM:612692
HP:0000403	Recurrent otitis media	113179	ADAT3	OMIM:615286
HP:0000403	Recurrent otitis media	113179	ADAT3	ORPHA:363528
HP:0000403	Recurrent otitis media	54919	DNAAF5	OMIM:614874
HP:0000403	Recurrent otitis media	54919	DNAAF5	ORPHA:244
HP:0000403	Recurrent otitis media	2542	SLC37A4	OMIM:619525
HP:0000403	Recurrent otitis media	917	CD3G	OMIM:615607
HP:0000403	Recurrent otitis media	51085	MLXIPL	OMIM:194050
HP:0000403	Recurrent otitis media	2006	ELN	OMIM:194050
HP:0000403	Recurrent otitis media	11128	POLR3A	ORPHA:3455
HP:0000403	Recurrent otitis media	3373	HYAL1	OMIM:601492
HP:0000403	Recurrent otitis media	2535	FZD2	OMIM:164745
HP:0000403	Recurrent otitis media	7030	TFE3	OMIM:301066
HP:0000403	Recurrent otitis media	92749	DRC1	OMIM:615294
HP:0000403	Recurrent otitis media	92749	DRC1	ORPHA:244
HP:0000403	Recurrent otitis media	3978	LIG1	OMIM:619774
HP:0000403	Recurrent otitis media	3423	IDS	OMIM:309900
HP:0000403	Recurrent otitis media	6603	SMARCD2	OMIM:617475
HP:0000403	Recurrent otitis media	84522	JAGN1	OMIM:616022
HP:0000403	Recurrent otitis media	6929	TCF3	OMIM:616941
HP:0000403	Recurrent otitis media	7994	KAT6A	OMIM:616268
HP:0000403	Recurrent otitis media	3551	IKBKB	OMIM:618204
HP:0000403	Recurrent otitis media	916	CD3E	OMIM:615615
HP:0000403	Recurrent otitis media	3930	LBR	OMIM:169400
HP:0000403	Recurrent otitis media	246176	GAS2L2	OMIM:618449
HP:0000403	Recurrent otitis media	246176	GAS2L2	ORPHA:244
HP:0000403	Recurrent otitis media	915	CD3D	OMIM:615617
HP:0000403	Recurrent otitis media	3514	IGKC	ORPHA:183675
HP:0000403	Recurrent otitis media	3501	IGHG2	ORPHA:183675
HP:0000403	Recurrent otitis media	51311	TLR8	OMIM:301078
HP:0000403	Recurrent otitis media	25981	DNAH1	ORPHA:244
HP:0000403	Recurrent otitis media	115948	ODAD3	ORPHA:244
HP:0000403	Recurrent otitis media	115948	ODAD3	OMIM:616037
HP:0000403	Recurrent otitis media	54768	HYDIN	ORPHA:244
HP:0000403	Recurrent otitis media	54768	HYDIN	OMIM:608647
HP:0000403	Recurrent otitis media	352909	DNAAF3	ORPHA:244
HP:0000403	Recurrent otitis media	27148	STK36	ORPHA:244
HP:0000403	Recurrent otitis media	27148	STK36	OMIM:619436
HP:0000403	Recurrent otitis media	51314	NME8	ORPHA:244
HP:0000403	Recurrent otitis media	54970	TTC12	ORPHA:244
HP:0000403	Recurrent otitis media	152110	NEK10	ORPHA:244
HP:0000403	Recurrent otitis media	8481	OFD1	ORPHA:244
HP:0000403	Recurrent otitis media	2302	FOXJ1	ORPHA:244
HP:0000403	Recurrent otitis media	221421	RSPH9	ORPHA:244
HP:0000403	Recurrent otitis media	85478	CCDC65	ORPHA:244
HP:0000403	Recurrent otitis media	85478	CCDC65	OMIM:615504
HP:0000403	Recurrent otitis media	55036	CCDC40	ORPHA:244
HP:0000403	Recurrent otitis media	55036	CCDC40	OMIM:613808
HP:0000403	Recurrent otitis media	51364	ZMYND10	ORPHA:244
HP:0000403	Recurrent otitis media	51364	ZMYND10	OMIM:615444
HP:0000403	Recurrent otitis media	6674	SPAG1	ORPHA:244
HP:0000403	Recurrent otitis media	6674	SPAG1	OMIM:615505
HP:0000403	Recurrent otitis media	83544	DNAL1	ORPHA:244
HP:0000403	Recurrent otitis media	83538	ODAD4	ORPHA:244
HP:0000403	Recurrent otitis media	200373	CFAP221	ORPHA:244
HP:0000403	Recurrent otitis media	374407	DNAJB13	ORPHA:244
HP:0000403	Recurrent otitis media	55172	DNAAF2	ORPHA:244
HP:0000403	Recurrent otitis media	2622	GAS8	ORPHA:244
HP:0000403	Recurrent otitis media	2622	GAS8	OMIM:616726
HP:0000403	Recurrent otitis media	23639	DNAAF11	ORPHA:244
HP:0000403	Recurrent otitis media	23639	DNAAF11	OMIM:614935
HP:0000403	Recurrent otitis media	27019	DNAI1	ORPHA:244
HP:0000403	Recurrent otitis media	345895	RSPH4A	ORPHA:244
HP:0000403	Recurrent otitis media	6103	RPGR	ORPHA:244
HP:0000403	Recurrent otitis media	388389	CCDC103	ORPHA:244
HP:0000403	Recurrent otitis media	388389	CCDC103	OMIM:614679
HP:0000403	Recurrent otitis media	93233	ODAD1	ORPHA:244
HP:0000403	Recurrent otitis media	93233	ODAD1	OMIM:615067
HP:0000403	Recurrent otitis media	55130	ODAD2	ORPHA:244
HP:0000403	Recurrent otitis media	55130	ODAD2	OMIM:615451
HP:0000403	Recurrent otitis media	1767	DNAH5	ORPHA:244
HP:0000403	Recurrent otitis media	1767	DNAH5	OMIM:608644
HP:0000403	Recurrent otitis media	345643	MCIDAS	ORPHA:244
HP:0000403	Recurrent otitis media	56683	CFAP298	ORPHA:244
HP:0000403	Recurrent otitis media	56683	CFAP298	OMIM:615500
HP:0000403	Recurrent otitis media	79925	SPEF2	ORPHA:244
HP:0000403	Recurrent otitis media	10309	CCNO	ORPHA:244
HP:0000403	Recurrent otitis media	115399	LRRC56	ORPHA:244
HP:0000403	Recurrent otitis media	115399	LRRC56	OMIM:618254
HP:0000403	Recurrent otitis media	139212	DNAAF6	ORPHA:244
HP:0000403	Recurrent otitis media	85016	CFAP300	ORPHA:244
HP:0000403	Recurrent otitis media	339829	CCDC39	ORPHA:244
HP:0000403	Recurrent otitis media	8701	DNAH11	ORPHA:244
HP:0000403	Recurrent otitis media	8701	DNAH11	OMIM:611884
HP:0000403	Recurrent otitis media	1770	DNAH9	ORPHA:244
HP:0000403	Recurrent otitis media	81704	DOCK8	OMIM:243700
HP:0000403	Recurrent otitis media	2742	GLRA2	OMIM:301076
HP:0000403	Recurrent otitis media	55023	PHIP	ORPHA:589905
HP:0000403	Recurrent otitis media	29072	SETD2	OMIM:616831
HP:0000403	Recurrent otitis media	2316	FLNA	OMIM:309350
HP:0000403	Recurrent otitis media	1642	DDB1	OMIM:619426
HP:0000403	Recurrent otitis media	388015	RTL1	ORPHA:254531
HP:0000403	Recurrent otitis media	388015	RTL1	ORPHA:96184
HP:0000403	Recurrent otitis media	8788	DLK1	ORPHA:254531
HP:0000403	Recurrent otitis media	8788	DLK1	ORPHA:96184
HP:0000403	Recurrent otitis media	55384	MEG3	ORPHA:254531
HP:0000403	Recurrent otitis media	55384	MEG3	ORPHA:96184
HP:0000403	Recurrent otitis media	695	BTK	OMIM:300755
HP:0000403	Recurrent otitis media	695	BTK	OMIM:307200
HP:0000403	Recurrent otitis media	4683	NBN	OMIM:251260
HP:0000403	Recurrent otitis media	10806	SDCCAG8	OMIM:615993
HP:0000403	Recurrent otitis media	100151683	RNU4ATAC	ORPHA:353298
HP:0000403	Recurrent otitis media	100151683	RNU4ATAC	OMIM:616651
HP:0000403	Recurrent otitis media	3426	CFI	OMIM:610984
HP:0000403	Recurrent otitis media	9094	UNC119	OMIM:615518
HP:0000403	Recurrent otitis media	79650	USB1	OMIM:604173
HP:0000403	Recurrent otitis media	7314	UBB	ORPHA:99772
HP:0000403	Recurrent otitis media	57822	GRHL3	ORPHA:99772
HP:0000403	Recurrent otitis media	5575	PRKAR1B	OMIM:619680
HP:0000403	Recurrent otitis media	10847	SRCAP	OMIM:136140
HP:0000403	Recurrent otitis media	3718	JAK3	OMIM:600802
HP:0000403	Recurrent otitis media	11151	CORO1A	OMIM:615401
HP:0000403	Recurrent otitis media	4297	KMT2A	OMIM:605130
HP:0000403	Recurrent otitis media	57551	TAOK1	OMIM:619575
HP:0000403	Recurrent otitis media	84061	MAGT1	OMIM:300853
HP:0000403	Recurrent otitis media	2332	FMR1	ORPHA:449291
HP:0000403	Recurrent otitis media	6045	RNF2	OMIM:619460
HP:0000403	Recurrent otitis media	1280	COL2A1	OMIM:156550
HP:0000403	Recurrent otitis media	5718	PSMD12	ORPHA:529962
HP:0000403	Recurrent otitis media	2186	BPTF	ORPHA:529962
HP:0000403	Recurrent otitis media	1822	ATN1	OMIM:618494
HP:0000403	Recurrent otitis media	7403	KDM6A	OMIM:300867
HP:0000403	Recurrent otitis media	7403	KDM6A	OMIM:147920
HP:0000403	Recurrent otitis media	3560	IL2RB	OMIM:618495
HP:0000403	Recurrent otitis media	7454	WAS	OMIM:301000
HP:0000403	Recurrent otitis media	57003	CCDC47	OMIM:618268
HP:0000403	Recurrent otitis media	5977	DPF2	OMIM:618027
HP:0000403	Recurrent otitis media	55329	MNS1	OMIM:618948
HP:0000403	Recurrent otitis media	5580	PRKCD	OMIM:615559
HP:0000403	Recurrent otitis media	920	CD4	OMIM:619238
HP:0000403	Recurrent otitis media	5336	PLCG2	OMIM:614468
HP:0000403	Recurrent otitis media	3570	IL6R	OMIM:618944
HP:0000403	Recurrent otitis media	3575	IL7R	OMIM:608971
HP:0000403	Recurrent otitis media	23112	TNRC6B	OMIM:619243
HP:0000403	Recurrent otitis media	51816	ADA2	OMIM:615688
HP:0000403	Recurrent otitis media	50615	IL21R	OMIM:615207
HP:0000403	Recurrent otitis media	5294	PIK3CG	OMIM:619802
HP:0000403	Recurrent otitis media	2799	GNS	OMIM:252940
HP:0000403	Recurrent otitis media	10551	AGR2	OMIM:620233
HP:0000403	Recurrent otitis media	84905	ZNF341	OMIM:618282
HP:0000403	Recurrent otitis media	5879	RAC1	OMIM:617751
HP:0000403	Recurrent otitis media	5879	RAC1	ORPHA:500159
HP:0000403	Recurrent otitis media	2990	GUSB	OMIM:253220
HP:0000403	Recurrent otitis media	5236	PGM1	OMIM:614921
HP:0000403	Recurrent otitis media	23765	IL17RA	OMIM:613953
HP:0000403	Recurrent otitis media	6850	SYK	OMIM:619381
HP:0000403	Recurrent otitis media	341208	HEPHL1	OMIM:261990
HP:0000403	Recurrent otitis media	721	C4B	OMIM:614379
HP:0000403	Recurrent otitis media	1794	DOCK2	OMIM:616433
HP:0000403	Recurrent otitis media	6736	SRY	ORPHA:1772
HP:0000403	Recurrent otitis media	5130	PCYT1A	OMIM:608940
HP:0000403	Recurrent otitis media	5696	PSMB8	OMIM:256040
HP:0000403	Recurrent otitis media	8085	KMT2D	OMIM:147920
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	63895	PIEZO2	ORPHA:2461
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	64374	SIL1	ORPHA:559
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	51763	INPP5K	ORPHA:559
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	84892	POMGNT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	148789	B3GALNT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	79147	FKRP	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	29954	POMT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9215	LARGE1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1282	COL4A1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	729920	CRPPA	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	10329	RXYLT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1605	DAG1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	11041	B4GAT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	10585	POMT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	84197	POMK	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2218	FKTN	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	55624	POMGNT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1146	CHRNG	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1144	CHRND	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1134	CHRNA1	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	59341	TRPV4	OMIM:181405
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9939	RBM8A	OMIM:274000
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2201	FBN2	OMIM:121050
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	5376	PMP22	ORPHA:90658
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	859	CAV3	ORPHA:488650
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	79796	ALG9	ORPHA:79328
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	78989	COLEC11	OMIM:265050
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2316	FLNA	OMIM:305620
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2316	FLNA	ORPHA:1826
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	57190	SELENON	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	58	ACTA1	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	4633	MYL2	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3679	ITGA7	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	7169	TPM2	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9200	HACD1	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	7170	TPM3	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	51776	MAP3K20	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3043	HBB	ORPHA:231226
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3043	HBB	ORPHA:231214
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	55640	FLVCR2	OMIM:225790
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	23545	ATP6V0A2	OMIM:278250
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6885	MAP3K7	ORPHA:1826
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	389827	MYMK	OMIM:254940
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2733	GLE1	OMIM:253310
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6910	TBX5	OMIM:142900
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	5980	REV3L	ORPHA:570
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	23129	PLXND1	ORPHA:570
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6926	TBX3	ORPHA:3138
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	101929726	MYMX	ORPHA:1358
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	4010	LMX1B	OMIM:161200
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	57167	SALL4	OMIM:147750
HP:0004298	Abnormality of the abdominal wall	8036	SHOC2	OMIM:607721
HP:0004298	Abnormality of the abdominal wall	23394	ADNP	ORPHA:404448
HP:0004298	Abnormality of the abdominal wall	8425	LTBP4	OMIM:613177
HP:0004298	Abnormality of the abdominal wall	268	AMH	ORPHA:2856
HP:0004298	Abnormality of the abdominal wall	268	AMH	OMIM:261550
HP:0004298	Abnormality of the abdominal wall	269	AMHR2	ORPHA:2856
HP:0004298	Abnormality of the abdominal wall	269	AMHR2	OMIM:261550
HP:0004298	Abnormality of the abdominal wall	81857	MED25	OMIM:616449
HP:0004298	Abnormality of the abdominal wall	81857	MED25	ORPHA:464738
HP:0004298	Abnormality of the abdominal wall	64220	STRA6	OMIM:601186
HP:0004298	Abnormality of the abdominal wall	64412	GZF1	OMIM:617662
HP:0004298	Abnormality of the abdominal wall	477	ATP1A2	OMIM:619602
HP:0004298	Abnormality of the abdominal wall	129563	DIS3L2	ORPHA:2849
HP:0004298	Abnormality of the abdominal wall	79158	GNPTAB	OMIM:252500
HP:0004298	Abnormality of the abdominal wall	79158	GNPTAB	ORPHA:576
HP:0004298	Abnormality of the abdominal wall	64175	P3H1	OMIM:610915
HP:0004298	Abnormality of the abdominal wall	57589	RIC1	OMIM:618761
HP:0004298	Abnormality of the abdominal wall	113189	CHST14	ORPHA:2953
HP:0004298	Abnormality of the abdominal wall	29940	DSE	ORPHA:2953
HP:0004298	Abnormality of the abdominal wall	29940	DSE	OMIM:615539
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	ORPHA:2834
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	OMIM:278250
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	OMIM:219200
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	ORPHA:357074
HP:0004298	Abnormality of the abdominal wall	4853	NOTCH2	OMIM:102500
HP:0004298	Abnormality of the abdominal wall	4853	NOTCH2	ORPHA:955
HP:0004298	Abnormality of the abdominal wall	3423	IDS	ORPHA:217085
HP:0004298	Abnormality of the abdominal wall	3423	IDS	OMIM:309900
HP:0004298	Abnormality of the abdominal wall	3423	IDS	ORPHA:217093
HP:0004298	Abnormality of the abdominal wall	9968	MED12	ORPHA:93932
HP:0004298	Abnormality of the abdominal wall	9968	MED12	OMIM:305450
HP:0004298	Abnormality of the abdominal wall	9968	MED12	OMIM:300895
HP:0004298	Abnormality of the abdominal wall	1183	CLCN4	ORPHA:485350
HP:0004298	Abnormality of the abdominal wall	64359	NXN	ORPHA:1507
HP:0004298	Abnormality of the abdominal wall	4920	ROR2	ORPHA:1507
HP:0004298	Abnormality of the abdominal wall	4920	ROR2	OMIM:268310
HP:0004298	Abnormality of the abdominal wall	8626	TP63	ORPHA:93930
HP:0004298	Abnormality of the abdominal wall	3670	ISL1	ORPHA:93930
HP:0004298	Abnormality of the abdominal wall	1277	COL1A1	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	1277	COL1A1	OMIM:619115
HP:0004298	Abnormality of the abdominal wall	1277	COL1A1	ORPHA:1899
HP:0004298	Abnormality of the abdominal wall	1289	COL5A1	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	1289	COL5A1	OMIM:130000
HP:0004298	Abnormality of the abdominal wall	1290	COL5A2	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	1281	COL3A1	ORPHA:286
HP:0004298	Abnormality of the abdominal wall	1281	COL3A1	OMIM:130050
HP:0004298	Abnormality of the abdominal wall	23347	SMCHD1	OMIM:603457
HP:0004298	Abnormality of the abdominal wall	23347	SMCHD1	ORPHA:2250
HP:0004298	Abnormality of the abdominal wall	6926	TBX3	OMIM:181450
HP:0004298	Abnormality of the abdominal wall	22872	SEC31A	OMIM:618651
HP:0004298	Abnormality of the abdominal wall	54968	TMEM70	OMIM:614052
HP:0004298	Abnormality of the abdominal wall	11107	PRDM5	OMIM:614170
HP:0004298	Abnormality of the abdominal wall	1656	DDX6	OMIM:618653
HP:0004298	Abnormality of the abdominal wall	1501	CTNND2	ORPHA:281
HP:0004298	Abnormality of the abdominal wall	9037	SEMA5A	ORPHA:281
HP:0004298	Abnormality of the abdominal wall	84314	TMEM107	OMIM:617563
HP:0004298	Abnormality of the abdominal wall	2783	GNB2	OMIM:619503
HP:0004298	Abnormality of the abdominal wall	5337	PLD1	OMIM:212093
HP:0004298	Abnormality of the abdominal wall	339983	NAT8L	OMIM:614063
HP:0004298	Abnormality of the abdominal wall	54914	FOCAD	OMIM:619991
HP:0004298	Abnormality of the abdominal wall	5048	PAFAH1B1	ORPHA:217385
HP:0004298	Abnormality of the abdominal wall	7531	YWHAE	ORPHA:217385
HP:0004298	Abnormality of the abdominal wall	9091	PIGQ	OMIM:618548
HP:0004298	Abnormality of the abdominal wall	6134	RPL10	ORPHA:459070
HP:0004298	Abnormality of the abdominal wall	6134	RPL10	OMIM:300998
HP:0004298	Abnormality of the abdominal wall	2990	GUSB	ORPHA:584
HP:0004298	Abnormality of the abdominal wall	715	C1R	OMIM:130080
HP:0004298	Abnormality of the abdominal wall	9158	FIBP	OMIM:617107
HP:0004298	Abnormality of the abdominal wall	9158	FIBP	ORPHA:500095
HP:0004298	Abnormality of the abdominal wall	2542	SLC37A4	OMIM:619525
HP:0004298	Abnormality of the abdominal wall	9993	DGCR2	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	8220	ESS2	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	8214	DGCR6	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	54487	DGCR8	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	OMIM:188400
HP:0004298	Abnormality of the abdominal wall	4621	MYH3	OMIM:178110
HP:0004298	Abnormality of the abdominal wall	4621	MYH3	OMIM:193700
HP:0004298	Abnormality of the abdominal wall	4621	MYH3	ORPHA:2990
HP:0004298	Abnormality of the abdominal wall	2239	GPC4	ORPHA:373
HP:0004298	Abnormality of the abdominal wall	2239	GPC4	OMIM:312870
HP:0004298	Abnormality of the abdominal wall	2719	GPC3	ORPHA:373
HP:0004298	Abnormality of the abdominal wall	2719	GPC3	OMIM:312870
HP:0004298	Abnormality of the abdominal wall	79989	IFT56	OMIM:619534
HP:0004298	Abnormality of the abdominal wall	284098	PIGW	OMIM:616025
HP:0004298	Abnormality of the abdominal wall	259232	NALCN	OMIM:616266
HP:0004298	Abnormality of the abdominal wall	23483	TGDS	OMIM:616145
HP:0004298	Abnormality of the abdominal wall	4851	NOTCH1	OMIM:616028
HP:0004298	Abnormality of the abdominal wall	2260	FGFR1	OMIM:166250
HP:0004298	Abnormality of the abdominal wall	2260	FGFR1	ORPHA:2645
HP:0004298	Abnormality of the abdominal wall	2006	ELN	ORPHA:90348
HP:0004298	Abnormality of the abdominal wall	2006	ELN	OMIM:123700
HP:0004298	Abnormality of the abdominal wall	2006	ELN	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	2006	ELN	OMIM:194050
HP:0004298	Abnormality of the abdominal wall	2006	ELN	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	10516	FBLN5	ORPHA:90348
HP:0004298	Abnormality of the abdominal wall	10516	FBLN5	ORPHA:90349
HP:0004298	Abnormality of the abdominal wall	10516	FBLN5	OMIM:219100
HP:0004298	Abnormality of the abdominal wall	5832	ALDH18A1	ORPHA:90348
HP:0004298	Abnormality of the abdominal wall	5832	ALDH18A1	OMIM:219150
HP:0004298	Abnormality of the abdominal wall	2720	GLB1	OMIM:230500
HP:0004298	Abnormality of the abdominal wall	2720	GLB1	OMIM:253010
HP:0004298	Abnormality of the abdominal wall	4052	LTBP1	ORPHA:90349
HP:0004298	Abnormality of the abdominal wall	4052	LTBP1	OMIM:619451
HP:0004298	Abnormality of the abdominal wall	30008	EFEMP2	ORPHA:90349
HP:0004298	Abnormality of the abdominal wall	30008	EFEMP2	OMIM:614437
HP:0004298	Abnormality of the abdominal wall	1107	CHD3	OMIM:618205
HP:0004298	Abnormality of the abdominal wall	3339	HSPG2	OMIM:255800
HP:0004298	Abnormality of the abdominal wall	3339	HSPG2	ORPHA:800
HP:0004298	Abnormality of the abdominal wall	2317	FLNB	OMIM:272460
HP:0004298	Abnormality of the abdominal wall	6595	SMARCA2	OMIM:601358
HP:0004298	Abnormality of the abdominal wall	1387	CREBBP	OMIM:618332
HP:0004298	Abnormality of the abdominal wall	8295	TRRAP	OMIM:618454
HP:0004298	Abnormality of the abdominal wall	54101	RIPK4	OMIM:263650
HP:0004298	Abnormality of the abdominal wall	4212	MEIS2	ORPHA:261190
HP:0004298	Abnormality of the abdominal wall	1801	DPH1	ORPHA:459061
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	ORPHA:672
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	ORPHA:36
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	OMIM:175700
HP:0004298	Abnormality of the abdominal wall	4088	SMAD3	ORPHA:284984
HP:0004298	Abnormality of the abdominal wall	4088	SMAD3	OMIM:613795
HP:0004298	Abnormality of the abdominal wall	4088	SMAD3	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	6448	SGSH	OMIM:252900
HP:0004298	Abnormality of the abdominal wall	5351	PLOD1	OMIM:225400
HP:0004298	Abnormality of the abdominal wall	5351	PLOD1	ORPHA:1900
HP:0004298	Abnormality of the abdominal wall	1859	DYRK1A	ORPHA:268261
HP:0004298	Abnormality of the abdominal wall	10765	KDM5B	OMIM:618109
HP:0004298	Abnormality of the abdominal wall	6418	SET	OMIM:618106
HP:0004298	Abnormality of the abdominal wall	79813	EHMT1	ORPHA:96147
HP:0004298	Abnormality of the abdominal wall	79813	EHMT1	ORPHA:261652
HP:0004298	Abnormality of the abdominal wall	2627	GATA6	OMIM:600001
HP:0004298	Abnormality of the abdominal wall	374654	KIF7	ORPHA:36
HP:0004298	Abnormality of the abdominal wall	374654	KIF7	OMIM:200990
HP:0004298	Abnormality of the abdominal wall	374654	KIF7	OMIM:607131
HP:0004298	Abnormality of the abdominal wall	2972	BRF1	ORPHA:444072
HP:0004298	Abnormality of the abdominal wall	5515	PPP2CA	OMIM:618354
HP:0004298	Abnormality of the abdominal wall	388015	RTL1	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	8788	DLK1	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	55384	MEG3	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	23729	SHPK	ORPHA:440713
HP:0004298	Abnormality of the abdominal wall	4952	OCRL	ORPHA:534
HP:0004298	Abnormality of the abdominal wall	4125	MAN2B1	OMIM:248500
HP:0004298	Abnormality of the abdominal wall	6601	SMARCC2	OMIM:618362
HP:0004298	Abnormality of the abdominal wall	84068	SLC10A7	OMIM:618363
HP:0004298	Abnormality of the abdominal wall	165	AEBP1	OMIM:618000
HP:0004298	Abnormality of the abdominal wall	165	AEBP1	ORPHA:536532
HP:0004298	Abnormality of the abdominal wall	8260	NAA10	OMIM:300855
HP:0004298	Abnormality of the abdominal wall	8260	NAA10	ORPHA:276432
HP:0004298	Abnormality of the abdominal wall	5831	PYCR1	OMIM:612940
HP:0004298	Abnormality of the abdominal wall	5831	PYCR1	OMIM:614438
HP:0004298	Abnormality of the abdominal wall	9719	ADAMTSL2	ORPHA:1901
HP:0004298	Abnormality of the abdominal wall	9509	ADAMTS2	ORPHA:1901
HP:0004298	Abnormality of the abdominal wall	9509	ADAMTS2	OMIM:225410
HP:0004298	Abnormality of the abdominal wall	1312	COMT	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	221037	JMJD1C	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	2812	GP1BB	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	6239	RREB1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	7290	HIRA	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	9632	SEC24C	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	7353	UFD1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	421	ARVCF	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	22827	PUF60	ORPHA:508488
HP:0004298	Abnormality of the abdominal wall	538	ATP7A	ORPHA:565
HP:0004298	Abnormality of the abdominal wall	538	ATP7A	ORPHA:198
HP:0004298	Abnormality of the abdominal wall	27031	NPHP3	OMIM:267010
HP:0004298	Abnormality of the abdominal wall	1280	COL2A1	OMIM:156550
HP:0004298	Abnormality of the abdominal wall	1280	COL2A1	OMIM:184250
HP:0004298	Abnormality of the abdominal wall	11342	RNF13	OMIM:618379
HP:0004298	Abnormality of the abdominal wall	11342	RNF13	ORPHA:544503
HP:0004298	Abnormality of the abdominal wall	7317	UBA1	OMIM:301830
HP:0004298	Abnormality of the abdominal wall	84896	ATAD1	OMIM:618011
HP:0004298	Abnormality of the abdominal wall	26040	SETBP1	ORPHA:798
HP:0004298	Abnormality of the abdominal wall	2316	FLNA	ORPHA:75497
HP:0004298	Abnormality of the abdominal wall	9791	PTDSS1	OMIM:151050
HP:0004298	Abnormality of the abdominal wall	9791	PTDSS1	ORPHA:2658
HP:0004298	Abnormality of the abdominal wall	716	C1S	OMIM:617174
HP:0004298	Abnormality of the abdominal wall	10526	IPO8	OMIM:619472
HP:0004298	Abnormality of the abdominal wall	64840	PORCN	ORPHA:2092
HP:0004298	Abnormality of the abdominal wall	64840	PORCN	OMIM:305600
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	OMIM:225320
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	ORPHA:230851
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	ORPHA:1899
HP:0004298	Abnormality of the abdominal wall	94005	PIGS	OMIM:618143
HP:0004298	Abnormality of the abdominal wall	6935	ZEB1	OMIM:609141
HP:0004298	Abnormality of the abdominal wall	285590	SH3PXD2B	ORPHA:137834
HP:0004298	Abnormality of the abdominal wall	10283	CWC27	ORPHA:166035
HP:0004298	Abnormality of the abdominal wall	8720	MBTPS1	OMIM:618392
HP:0004298	Abnormality of the abdominal wall	23405	DICER1	OMIM:618272
HP:0004298	Abnormality of the abdominal wall	51360	MBTPS2	OMIM:308205
HP:0004298	Abnormality of the abdominal wall	51360	MBTPS2	ORPHA:2273
HP:0004298	Abnormality of the abdominal wall	1457	CSNK2A1	OMIM:617062
HP:0004298	Abnormality of the abdominal wall	23112	TNRC6B	OMIM:619243
HP:0004298	Abnormality of the abdominal wall	10220	GDF11	OMIM:619122
HP:0004298	Abnormality of the abdominal wall	8450	CUL4B	ORPHA:85293
HP:0004298	Abnormality of the abdominal wall	2799	GNS	OMIM:252940
HP:0004298	Abnormality of the abdominal wall	5295	PIK3R1	ORPHA:3163
HP:0004298	Abnormality of the abdominal wall	5295	PIK3R1	OMIM:269880
HP:0004298	Abnormality of the abdominal wall	149461	CLDN19	ORPHA:2196
HP:0004298	Abnormality of the abdominal wall	9487	PIGL	OMIM:280000
HP:0004298	Abnormality of the abdominal wall	875	CBS	OMIM:236200
HP:0004298	Abnormality of the abdominal wall	7474	WNT5A	OMIM:180700
HP:0004298	Abnormality of the abdominal wall	7474	WNT5A	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	1855	DVL1	OMIM:180700
HP:0004298	Abnormality of the abdominal wall	1855	DVL1	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	9897	WASHC5	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	28952	CCDC22	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	9652	SKIC3	ORPHA:84064
HP:0004298	Abnormality of the abdominal wall	6499	SKIC2	ORPHA:84064
HP:0004298	Abnormality of the abdominal wall	5518	PPP2R1A	ORPHA:457284
HP:0004298	Abnormality of the abdominal wall	29969	MDFIC	OMIM:620014
HP:0004298	Abnormality of the abdominal wall	7042	TGFB2	OMIM:614816
HP:0004298	Abnormality of the abdominal wall	7042	TGFB2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	871	SERPINH1	OMIM:613848
HP:0004298	Abnormality of the abdominal wall	168667	BMPER	OMIM:608022
HP:0004298	Abnormality of the abdominal wall	4702	NDUFA8	OMIM:619272
HP:0004298	Abnormality of the abdominal wall	10128	LRPPRC	OMIM:220111
HP:0004298	Abnormality of the abdominal wall	55503	TRPV6	OMIM:618188
HP:0004298	Abnormality of the abdominal wall	2904	GRIN2B	OMIM:613970
HP:0004298	Abnormality of the abdominal wall	57539	WDR35	OMIM:613610
HP:0004298	Abnormality of the abdominal wall	145173	B3GLCT	ORPHA:709
HP:0004298	Abnormality of the abdominal wall	123263	MTFMT	OMIM:614947
HP:0004298	Abnormality of the abdominal wall	4774	NFIA	OMIM:613735
HP:0004298	Abnormality of the abdominal wall	4758	NEU1	OMIM:256550
HP:0004298	Abnormality of the abdominal wall	4758	NEU1	ORPHA:93399
HP:0004298	Abnormality of the abdominal wall	4758	NEU1	ORPHA:93400
HP:0004298	Abnormality of the abdominal wall	23126	POGZ	ORPHA:468678
HP:0004298	Abnormality of the abdominal wall	5352	PLOD2	OMIM:609220
HP:0004298	Abnormality of the abdominal wall	64324	NSD1	ORPHA:821
HP:0004298	Abnormality of the abdominal wall	64324	NSD1	ORPHA:3447
HP:0004298	Abnormality of the abdominal wall	29072	SETD2	ORPHA:821
HP:0004298	Abnormality of the abdominal wall	10297	APC2	ORPHA:821
HP:0004298	Abnormality of the abdominal wall	10093	ARPC4	OMIM:620141
HP:0004298	Abnormality of the abdominal wall	4281	MID1	OMIM:300000
HP:0004298	Abnormality of the abdominal wall	4281	MID1	ORPHA:2745
HP:0004298	Abnormality of the abdominal wall	8443	GNPAT	OMIM:222765
HP:0004298	Abnormality of the abdominal wall	613	BCR	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	1399	CRKL	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	5594	MAPK1	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	25782	RAB3GAP2	OMIM:212720
HP:0004298	Abnormality of the abdominal wall	6197	RPS6KA3	OMIM:303600
HP:0004298	Abnormality of the abdominal wall	1146	CHRNG	OMIM:265000
HP:0004298	Abnormality of the abdominal wall	1146	CHRNG	ORPHA:2990
HP:0004298	Abnormality of the abdominal wall	57492	ARID1B	OMIM:135900
HP:0004298	Abnormality of the abdominal wall	92579	G6PC3	OMIM:612541
HP:0004298	Abnormality of the abdominal wall	8289	ARID1A	OMIM:614607
HP:0004298	Abnormality of the abdominal wall	6598	SMARCB1	OMIM:614608
HP:0004298	Abnormality of the abdominal wall	26053	AUTS2	ORPHA:352490
HP:0004298	Abnormality of the abdominal wall	26053	AUTS2	OMIM:615834
HP:0004298	Abnormality of the abdominal wall	23314	SATB2	OMIM:612313
HP:0004298	Abnormality of the abdominal wall	25942	SIN3A	OMIM:613406
HP:0004298	Abnormality of the abdominal wall	3425	IDUA	OMIM:607014
HP:0004298	Abnormality of the abdominal wall	3425	IDUA	OMIM:607015
HP:0004298	Abnormality of the abdominal wall	175	AGA	ORPHA:93
HP:0004298	Abnormality of the abdominal wall	5826	ABCD4	OMIM:614857
HP:0004298	Abnormality of the abdominal wall	699	BUB1	OMIM:620183
HP:0004298	Abnormality of the abdominal wall	1836	SLC26A2	OMIM:600972
HP:0004298	Abnormality of the abdominal wall	197257	LDHD	OMIM:245450
HP:0004298	Abnormality of the abdominal wall	1857	DVL3	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	2535	FZD2	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	6804	STX1A	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	7461	CLIP2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	84277	DNAJC30	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	8468	FKBP6	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	5982	RFC2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	2969	GTF2I	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	3984	LIMK1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	9569	GTF2IRD1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	155382	VPS37D	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	155368	METTL27	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	114049	BUD23	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	7458	EIF4H	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	84163	GTF2IRD2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	9275	BCL7B	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	26608	TBL2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	653361	NCF1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	135886	TMEM270	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	51085	MLXIPL	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	51085	MLXIPL	OMIM:194050
HP:0004298	Abnormality of the abdominal wall	9031	BAZ1B	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	10056	FARSB	OMIM:613658
HP:0004298	Abnormality of the abdominal wall	81031	SLC2A10	ORPHA:3342
HP:0004298	Abnormality of the abdominal wall	81031	SLC2A10	OMIM:208050
HP:0004298	Abnormality of the abdominal wall	54499	TMCO1	OMIM:213980
HP:0004298	Abnormality of the abdominal wall	84992	PIGY	OMIM:616809
HP:0004298	Abnormality of the abdominal wall	10907	TXNL4A	OMIM:608572
HP:0004298	Abnormality of the abdominal wall	58508	KMT2C	ORPHA:261652
HP:0004298	Abnormality of the abdominal wall	4094	MAF	ORPHA:1272
HP:0004298	Abnormality of the abdominal wall	8481	OFD1	OMIM:300209
HP:0004298	Abnormality of the abdominal wall	3481	IGF2	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	3481	IGF2	ORPHA:2128
HP:0004298	Abnormality of the abdominal wall	1028	CDKN1C	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	5324	PLAG1	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	8091	HMGA2	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	63895	PIEZO2	ORPHA:1154
HP:0004298	Abnormality of the abdominal wall	63895	PIEZO2	OMIM:248700
HP:0004298	Abnormality of the abdominal wall	10984	KCNQ1OT1	ORPHA:2128
HP:0004298	Abnormality of the abdominal wall	283120	H19	ORPHA:2128
HP:0004298	Abnormality of the abdominal wall	2146	EZH2	OMIM:277590
HP:0004298	Abnormality of the abdominal wall	2146	EZH2	ORPHA:3447
HP:0004298	Abnormality of the abdominal wall	7048	TGFBR2	OMIM:610168
HP:0004298	Abnormality of the abdominal wall	7048	TGFBR2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	8726	EED	ORPHA:3447
HP:0004298	Abnormality of the abdominal wall	23512	SUZ12	ORPHA:3447
HP:0004298	Abnormality of the abdominal wall	55690	PACS1	ORPHA:329224
HP:0004298	Abnormality of the abdominal wall	2245	FGD1	ORPHA:915
HP:0004298	Abnormality of the abdominal wall	2245	FGD1	OMIM:305400
HP:0004298	Abnormality of the abdominal wall	2200	FBN1	ORPHA:2462
HP:0004298	Abnormality of the abdominal wall	2200	FBN1	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	6497	SKI	ORPHA:2462
HP:0004298	Abnormality of the abdominal wall	6497	SKI	OMIM:182212
HP:0004298	Abnormality of the abdominal wall	4089	SMAD4	ORPHA:2588
HP:0004298	Abnormality of the abdominal wall	4089	SMAD4	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	411	ARSB	OMIM:253200
HP:0004298	Abnormality of the abdominal wall	10847	SRCAP	OMIM:136140
HP:0004298	Abnormality of the abdominal wall	4854	NOTCH3	OMIM:130720
HP:0004298	Abnormality of the abdominal wall	4854	NOTCH3	ORPHA:2789
HP:0004298	Abnormality of the abdominal wall	23291	FBXW11	OMIM:618914
HP:0004298	Abnormality of the abdominal wall	4953	ODC1	ORPHA:544488
HP:0004298	Abnormality of the abdominal wall	998	CDC42	OMIM:616737
HP:0004298	Abnormality of the abdominal wall	998	CDC42	ORPHA:487796
HP:0004298	Abnormality of the abdominal wall	55033	FKBP14	OMIM:614557
HP:0004298	Abnormality of the abdominal wall	2187	FANCB	ORPHA:3412
HP:0004298	Abnormality of the abdominal wall	2657	GDF1	OMIM:208530
HP:0004298	Abnormality of the abdominal wall	10265	IRX5	OMIM:611174
HP:0004298	Abnormality of the abdominal wall	134701	RIPPLY2	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	10683	DLL3	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	3955	LFNG	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	84667	HES7	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	145873	MESP2	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	55764	IFT122	OMIM:218330
HP:0004298	Abnormality of the abdominal wall	367	AR	OMIM:300068
HP:0004298	Abnormality of the abdominal wall	8884	SLC5A6	OMIM:619903
HP:0004298	Abnormality of the abdominal wall	2626	GATA4	OMIM:615542
HP:0004298	Abnormality of the abdominal wall	56623	INPP5E	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	91147	TMEM67	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	23322	RPGRIP1L	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	57545	CC2D2A	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	79633	FAT4	OMIM:615546
HP:0004298	Abnormality of the abdominal wall	6785	ELOVL4	OMIM:614457
HP:0004298	Abnormality of the abdominal wall	26227	PHGDH	ORPHA:79351
HP:0004298	Abnormality of the abdominal wall	2313	FLI1	ORPHA:2308
HP:0004298	Abnormality of the abdominal wall	10664	CTCF	ORPHA:363611
HP:0004298	Abnormality of the abdominal wall	2588	GALNS	OMIM:253000
HP:0004298	Abnormality of the abdominal wall	1861	TOR1A	OMIM:618947
HP:0004298	Abnormality of the abdominal wall	8905	AP1S2	ORPHA:1568
HP:0004298	Abnormality of the abdominal wall	55617	TASP1	OMIM:618950
HP:0004298	Abnormality of the abdominal wall	2741	GLRA1	OMIM:149400
HP:0004298	Abnormality of the abdominal wall	10243	GPHN	OMIM:149400
HP:0004298	Abnormality of the abdominal wall	523	ATP6V1A	ORPHA:357074
HP:0004298	Abnormality of the abdominal wall	523	ATP6V1A	OMIM:617403
HP:0004298	Abnormality of the abdominal wall	529	ATP6V1E1	ORPHA:357074
HP:0004298	Abnormality of the abdominal wall	7518	XRCC4	OMIM:616541
HP:0004298	Abnormality of the abdominal wall	10020	GNE	OMIM:269921
HP:0004298	Abnormality of the abdominal wall	51780	KDM3B	OMIM:618846
HP:0004298	Abnormality of the abdominal wall	5430	POLR2A	OMIM:618603
HP:0004298	Abnormality of the abdominal wall	9469	CHST3	OMIM:245600
HP:0004298	Abnormality of the abdominal wall	26229	B3GAT3	OMIM:245600
HP:0004298	Abnormality of the abdominal wall	7043	TGFB3	OMIM:615582
HP:0004298	Abnormality of the abdominal wall	7043	TGFB3	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	57728	WDR19	OMIM:614376
HP:0004298	Abnormality of the abdominal wall	203068	TUBB	ORPHA:2505
HP:0004298	Abnormality of the abdominal wall	10982	MAPRE2	ORPHA:2505
HP:0004298	Abnormality of the abdominal wall	221927	BRAT1	OMIM:614498
HP:0004298	Abnormality of the abdominal wall	170302	ARX	ORPHA:2508
HP:0004298	Abnormality of the abdominal wall	4629	MYH11	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	7046	TGFBR1	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4015	LOX	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4087	SMAD2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	59	ACTA2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	5592	PRKG1	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	2301	FOXE3	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4144	MAT2A	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	23493	HEY2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	8076	MFAP5	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4638	MYLK	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	341640	FREM2	ORPHA:2052
HP:0004298	Abnormality of the abdominal wall	23426	GRIP1	ORPHA:2052
HP:0004298	Abnormality of the abdominal wall	1788	DNMT3A	ORPHA:404443
HP:0004298	Abnormality of the abdominal wall	1788	DNMT3A	OMIM:615879
HP:0004298	Abnormality of the abdominal wall	4487	MSX1	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	5818	NECTIN1	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	3664	IRF6	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	7849	PAX8	OMIM:218700
HP:0004298	Abnormality of the abdominal wall	7849	PAX8	ORPHA:95712
HP:0004298	Abnormality of the abdominal wall	23384	SPECC1L	ORPHA:1519
HP:0004298	Abnormality of the abdominal wall	3764	KCNJ8	ORPHA:1517
HP:0004298	Abnormality of the abdominal wall	10060	ABCC9	ORPHA:1517
HP:0004298	Abnormality of the abdominal wall	10060	ABCC9	OMIM:239850
HP:0004298	Abnormality of the abdominal wall	7253	TSHR	ORPHA:90673
HP:0004298	Abnormality of the abdominal wall	7252	TSHB	ORPHA:90674
HP:0004298	Abnormality of the abdominal wall	7252	TSHB	OMIM:275100
HP:0004298	Abnormality of the abdominal wall	54453	RIN2	OMIM:613075
HP:0004298	Abnormality of the abdominal wall	54453	RIN2	ORPHA:217335
HP:0004298	Abnormality of the abdominal wall	50814	NSDHL	OMIM:308050
HP:0004298	Abnormality of the abdominal wall	672	BRCA1	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	10459	MAD2L2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	7516	XRCC2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	29089	UBE2T	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	675	BRCA2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55120	FANCL	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2177	FANCD2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2175	FANCA	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2176	FANCC	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2178	FANCE	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2188	FANCF	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2189	FANCG	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	5888	RAD51	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	5889	RAD51C	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55159	RFWD3	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	83990	BRIP1	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	57697	FANCM	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	79728	PALB2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	84464	SLX4	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2072	ERCC4	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55215	FANCI	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2697	GJA1	ORPHA:2710
HP:0004298	Abnormality of the abdominal wall	3070	HELLS	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	1789	DNMT3B	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	83879	CDCA7	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	9841	ZBTB24	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	1954	MEGF8	OMIM:614976
HP:0004298	Abnormality of the abdominal wall	1954	MEGF8	ORPHA:65759
HP:0004298	Abnormality of the abdominal wall	649	BMP1	OMIM:614856
HP:0004298	Abnormality of the abdominal wall	55636	CHD7	OMIM:214800
HP:0004298	Abnormality of the abdominal wall	4036	LRP2	ORPHA:2143
HP:0004298	Abnormality of the abdominal wall	4036	LRP2	OMIM:222448
HP:0004298	Abnormality of the abdominal wall	1947	EFNB1	OMIM:304110
HP:0004298	Abnormality of the abdominal wall	5626	PROP1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	89884	LHX4	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	8022	LHX3	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	5449	POU1F1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	8820	HESX1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	79753	SNIP1	OMIM:614501
HP:0004298	Abnormality of the abdominal wall	5593	PRKG2	OMIM:619636
HP:0004298	Abnormality of the abdominal wall	8364	H4C3	OMIM:619758
HP:0004298	Abnormality of the abdominal wall	8517	IKBKG	ORPHA:464
HP:0004298	Abnormality of the abdominal wall	50506	DUOX2	ORPHA:226316
HP:0004298	Abnormality of the abdominal wall	50506	DUOX2	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	25802	LMOD1	ORPHA:2241
HP:0004298	Abnormality of the abdominal wall	51341	ZBTB7A	OMIM:619769
HP:0004298	Abnormality of the abdominal wall	55343	SLC35C1	ORPHA:99843
HP:0004298	Abnormality of the abdominal wall	7030	TFE3	OMIM:301066
HP:0004298	Abnormality of the abdominal wall	285203	EOGT	OMIM:615297
HP:0004298	Abnormality of the abdominal wall	57479	PRR12	OMIM:619539
HP:0004298	Abnormality of the abdominal wall	84168	ANTXR1	OMIM:230740
HP:0004298	Abnormality of the abdominal wall	84168	ANTXR1	ORPHA:2067
HP:0004298	Abnormality of the abdominal wall	64919	BCL11B	OMIM:617237
HP:0004298	Abnormality of the abdominal wall	3930	LBR	OMIM:169400
HP:0004298	Abnormality of the abdominal wall	404672	GTF2H5	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	833	CARS1	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2068	ERCC2	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	7737	RNF113A	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	136647	MPLKIP	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	6897	TARS1	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2071	ERCC3	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2961	GTF2E2	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	147372	CCBE1	OMIM:235510
HP:0004298	Abnormality of the abdominal wall	6528	SLC5A5	OMIM:274400
HP:0004298	Abnormality of the abdominal wall	6528	SLC5A5	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	9742	IFT140	OMIM:266920
HP:0004298	Abnormality of the abdominal wall	51053	GMNN	OMIM:616835
HP:0004298	Abnormality of the abdominal wall	90417	KNSTRN	OMIM:613328
HP:0004298	Abnormality of the abdominal wall	90417	KNSTRN	ORPHA:221139
HP:0004298	Abnormality of the abdominal wall	5293	PIK3CD	OMIM:613328
HP:0004298	Abnormality of the abdominal wall	5293	PIK3CD	ORPHA:221139
HP:0004298	Abnormality of the abdominal wall	6792	CDKL5	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	3736	KCNA1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2775	GNAO1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	81603	TRIM8	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2902	GRIN1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	79751	SLC25A22	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	150094	SIK1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	8573	CASK	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	23312	DMXL2	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2917	GRM7	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	11284	PNKP	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	6326	SCN2A	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	51227	PIGP	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	6324	SCN1B	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	4761	NEUROD2	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	9759	HDAC4	ORPHA:1001
HP:0004298	Abnormality of the abdominal wall	546	ATRX	OMIM:301040
HP:0004298	Abnormality of the abdominal wall	6299	SALL1	OMIM:107480
HP:0004298	Abnormality of the abdominal wall	169792	GLIS3	OMIM:610199
HP:0004298	Abnormality of the abdominal wall	3097	HIVEP2	OMIM:616977
HP:0004298	Abnormality of the abdominal wall	3767	KCNJ11	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	346171	ZFP57	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	6833	ABCC8	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	79068	FTO	OMIM:612938
HP:0004298	Abnormality of the abdominal wall	4784	NFIX	OMIM:602535
HP:0004298	Abnormality of the abdominal wall	3756	KCNH1	OMIM:135500
HP:0004298	Abnormality of the abdominal wall	85358	SHANK3	ORPHA:48652
HP:0004298	Abnormality of the abdominal wall	10082	GPC6	OMIM:258315
HP:0004298	Abnormality of the abdominal wall	405753	DUOXA2	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	7038	TG	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	7173	TPO	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	389434	IYD	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	55603	TENT5A	OMIM:617952
HP:0004298	Abnormality of the abdominal wall	2019	EN1	OMIM:619218
HP:0004298	Abnormality of the abdominal wall	23389	MED13L	ORPHA:369891
HP:0004298	Abnormality of the abdominal wall	1482	NKX2-5	ORPHA:95712
HP:0004298	Abnormality of the abdominal wall	6045	RNF2	OMIM:619460
HP:0004298	Abnormality of the abdominal wall	2743	GLRB	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	9152	SLC6A5	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	633	BGN	OMIM:300989
HP:0004298	Abnormality of the abdominal wall	51715	RAB23	ORPHA:65759
HP:0004298	Abnormality of the abdominal wall	51715	RAB23	OMIM:201000
HP:0004298	Abnormality of the abdominal wall	84265	POLR3GL	OMIM:619234
HP:0004298	Abnormality of the abdominal wall	54880	BCOR	OMIM:300166
HP:0004298	Abnormality of the abdominal wall	100506658	OCLN	OMIM:251290
HP:0004298	Abnormality of the abdominal wall	23169	SLC35D1	OMIM:269250
HP:0004298	Abnormality of the abdominal wall	5879	RAC1	OMIM:617751
HP:0004298	Abnormality of the abdominal wall	5879	RAC1	ORPHA:500159
HP:0004298	Abnormality of the abdominal wall	84231	TRAF7	OMIM:618164
HP:0004298	Abnormality of the abdominal wall	5727	PTCH1	ORPHA:77301
HP:0004298	Abnormality of the abdominal wall	9361	LONP1	OMIM:600373
HP:0004298	Abnormality of the abdominal wall	28981	IFT81	OMIM:617895
HP:0004298	Abnormality of the abdominal wall	23556	PIGN	ORPHA:2059
HP:0004298	Abnormality of the abdominal wall	55112	DYNC2I1	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	57560	IFT80	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	79659	DYNC2H1	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	89891	DYNC2I2	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	91754	NEK9	OMIM:617022
HP:0004298	Abnormality of the abdominal wall	51259	TMEM216	OMIM:603194
HP:0004298	Abnormality of the abdominal wall	7547	ZIC3	OMIM:306955
HP:0004298	Abnormality of the abdominal wall	1147	CHUK	OMIM:613630
HP:0004298	Abnormality of the abdominal wall	158326	FREM1	ORPHA:3366
HP:0004298	Abnormality of the abdominal wall	158326	FREM1	OMIM:248450
HP:0004298	Abnormality of the abdominal wall	4313	MMP2	ORPHA:371428
HP:0004298	Abnormality of the abdominal wall	4323	MMP14	ORPHA:371428
HP:0004298	Abnormality of the abdominal wall	1301	COL11A1	OMIM:228520
HP:0004298	Abnormality of the abdominal wall	1301	COL11A1	ORPHA:2021
HP:0004298	Abnormality of the abdominal wall	79796	ALG9	OMIM:263210
HP:0004298	Abnormality of the abdominal wall	79796	ALG9	ORPHA:79328
HP:0004298	Abnormality of the abdominal wall	7067	THRA	OMIM:614450
HP:0004298	Abnormality of the abdominal wall	10046	MAMLD1	ORPHA:95706
HP:0004298	Abnormality of the abdominal wall	1302	COL11A2	ORPHA:2021
HP:0004298	Abnormality of the abdominal wall	4524	MTHFR	ORPHA:563609
HP:0004298	Abnormality of the abdominal wall	57216	VANGL2	ORPHA:563609
HP:0004298	Abnormality of the abdominal wall	57217	TTC7A	OMIM:243150
HP:0004298	Abnormality of the abdominal wall	57217	TTC7A	ORPHA:436252
HP:0004298	Abnormality of the abdominal wall	4659	PPP1R12A	OMIM:618820
HP:0004298	Abnormality of the abdominal wall	2571	GAD1	OMIM:619124
HP:0004298	Abnormality of the abdominal wall	9772	TMEM94	OMIM:618316
HP:0004298	Abnormality of the abdominal wall	139285	AMER1	OMIM:300373
HP:0004298	Abnormality of the abdominal wall	3090	HIC1	ORPHA:531
HP:0004298	Abnormality of the abdominal wall	153241	CEP120	OMIM:616300
HP:0004298	Abnormality of the abdominal wall	727857	BHLHA9	ORPHA:3329
HP:0004298	Abnormality of the abdominal wall	5297	PI4KA	ORPHA:436252
HP:0004298	Abnormality of the abdominal wall	219844	HYLS1	OMIM:236680
HP:0004298	Abnormality of the abdominal wall	3239	HOXD13	ORPHA:887
HP:0004298	Abnormality of the abdominal wall	54903	MKS1	OMIM:249000
HP:0004298	Abnormality of the abdominal wall	51339	DACT1	ORPHA:63260
HP:0004298	Abnormality of the abdominal wall	2294	FOXF1	OMIM:265380
HP:0004298	Abnormality of the abdominal wall	10584	COLEC10	OMIM:248340
HP:0004298	Abnormality of the abdominal wall	10584	COLEC10	ORPHA:293843
HP:0004298	Abnormality of the abdominal wall	3784	KCNQ1	OMIM:130650
HP:0004298	Abnormality of the abdominal wall	5648	MASP1	OMIM:257920
HP:0004298	Abnormality of the abdominal wall	5648	MASP1	ORPHA:293843
HP:0004298	Abnormality of the abdominal wall	78989	COLEC11	ORPHA:293843
HP:0004298	Abnormality of the abdominal wall	78989	COLEC11	OMIM:265050
HP:0004298	Abnormality of the abdominal wall	63916	ELMO2	OMIM:606893
HP:0004298	Abnormality of the abdominal wall	55553	SOX6	OMIM:618971
HP:0004298	Abnormality of the abdominal wall	283489	CHAMP1	OMIM:616579
HP:0004298	Abnormality of the abdominal wall	2475	MTOR	ORPHA:457485
HP:0004298	Abnormality of the abdominal wall	2475	MTOR	OMIM:616638
HP:0004298	Abnormality of the abdominal wall	55012	PPP2R3C	OMIM:618419
HP:0004298	Abnormality of the abdominal wall	93627	TBCK	ORPHA:488632
HP:0004298	Abnormality of the abdominal wall	10262	SF3B4	OMIM:154400
HP:0004298	Abnormality of the abdominal wall	1717	DHCR7	ORPHA:818
HP:0004298	Abnormality of the abdominal wall	7473	WNT3	OMIM:273395
HP:0004298	Abnormality of the abdominal wall	7994	KAT6A	OMIM:616268
HP:0004298	Abnormality of the abdominal wall	4000	LMNA	ORPHA:740
HP:0004298	Abnormality of the abdominal wall	10269	ZMPSTE24	ORPHA:740
HP:0004298	Abnormality of the abdominal wall	284119	CAVIN1	OMIM:613327
HP:0004298	Abnormality of the abdominal wall	26580	BSCL2	OMIM:269700
HP:0004298	Abnormality of the abdominal wall	10555	AGPAT2	OMIM:608594
HP:0004298	Abnormality of the abdominal wall	25836	NIPBL	OMIM:122470
HP:0004298	Abnormality of the abdominal wall	80144	FRAS1	OMIM:219000
HP:0004298	Abnormality of the abdominal wall	3848	KRT1	ORPHA:530838
HP:0004298	Abnormality of the abdominal wall	3845	KRAS	OMIM:600268
HP:0004298	Abnormality of the abdominal wall	51733	UPB1	OMIM:613161
HP:0004298	Abnormality of the abdominal wall	1009	CDH11	ORPHA:1299
HP:0004298	Abnormality of the abdominal wall	5053	PAH	ORPHA:2209
HP:0004298	Abnormality of the abdominal wall	117581	TWIST2	OMIM:200110
HP:0004298	Abnormality of the abdominal wall	2517	FUCA1	OMIM:230000
HP:0004298	Abnormality of the abdominal wall	1499	CTNNB1	ORPHA:873
HP:0004298	Abnormality of the abdominal wall	324	APC	ORPHA:873
HP:0004298	Abnormality of the abdominal wall	8239	USP9X	ORPHA:480880
HP:0004298	Abnormality of the abdominal wall	3117	HLA-DQA1	OMIM:212750
HP:0004298	Abnormality of the abdominal wall	3119	HLA-DQB1	OMIM:212750
HP:0004298	Abnormality of the abdominal wall	3643	INSR	OMIM:246200
HP:0004298	Abnormality of the abdominal wall	4204	MECP2	ORPHA:1762
HP:0004298	Abnormality of the abdominal wall	114548	NLRP3	ORPHA:575
HP:0004298	Abnormality of the abdominal wall	9780	PIEZO1	OMIM:616843
HP:0004298	Abnormality of the abdominal wall	91801	ALKBH8	OMIM:618504
HP:0004298	Abnormality of the abdominal wall	1131	CHRM3	ORPHA:2970
HP:0004298	Abnormality of the abdominal wall	1131	CHRM3	OMIM:100100
HP:0004298	Abnormality of the abdominal wall	29957	SLC25A24	OMIM:612289
HP:0004298	Abnormality of the abdominal wall	4126	MANBA	ORPHA:118
HP:0004298	Abnormality of the abdominal wall	6023	RMRP	ORPHA:175
HP:0004298	Abnormality of the abdominal wall	72	ACTG2	ORPHA:2604
HP:0004298	Abnormality of the abdominal wall	22800	RRAS2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	867	CBL	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	8216	LZTR1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6016	RIT1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6237	RRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5894	RAF1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5894	RAF1	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	22808	MRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	200734	SPRED2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	4893	NRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6654	SOS1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6655	SOS2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5781	PTPN11	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5781	PTPN11	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	5922	RASA2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	10225	CD96	ORPHA:1308
HP:0004298	Abnormality of the abdominal wall	57192	MCOLN1	ORPHA:578
HP:0004298	Abnormality of the abdominal wall	673	BRAF	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	64131	XYLT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	124583	CANT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	55790	CSGALNACT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	412	STS	ORPHA:281090
HP:0004298	Abnormality of the abdominal wall	57061	HYMAI	ORPHA:96191
HP:0004298	Abnormality of the abdominal wall	5325	PLAGL1	ORPHA:96191
HP:0004298	Abnormality of the abdominal wall	6862	TBXT	OMIM:615709
HP:0004298	Abnormality of the abdominal wall	2263	FGFR2	OMIM:123790
HP:0004298	Abnormality of the abdominal wall	9321	TRIP11	ORPHA:93299
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	2316	FLNA	ORPHA:1826
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	6885	MAP3K7	ORPHA:1826
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	9939	RBM8A	OMIM:274000
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	57167	SALL4	OMIM:147750
HP:0001465	Amyotrophy involving the shoulder musculature	2273	FHL1	OMIM:300695
HP:0001465	Amyotrophy involving the shoulder musculature	825	CAPN3	ORPHA:267
HP:0001465	Amyotrophy involving the shoulder musculature	2218	FKTN	OMIM:611588
HP:0001465	Amyotrophy involving the shoulder musculature	59341	TRPV4	OMIM:181405
HP:0001466	Contiguous gene syndrome	6208	RPS14	OMIM:153550
HP:0001466	Contiguous gene syndrome	284058	KANSL1	OMIM:610443
HP:0001466	Contiguous gene syndrome	7490	WT1	OMIM:194072
HP:0001466	Contiguous gene syndrome	5080	PAX6	OMIM:194072
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	2316	FLNA	ORPHA:1826
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	6885	MAP3K7	ORPHA:1826
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	9939	RBM8A	OMIM:274000
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	57167	SALL4	OMIM:607323
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	4010	LMX1B	OMIM:161200
HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	4010	LMX1B	OMIM:161200
HP:0001469	Abnormal morphology of the pelvis musculature	22954	TRIM32	OMIM:254110
HP:0001469	Abnormal morphology of the pelvis musculature	7415	VCP	OMIM:167320
HP:0001469	Abnormal morphology of the pelvis musculature	6443	SGCB	OMIM:604286
HP:0001469	Abnormal morphology of the pelvis musculature	4000	LMNA	ORPHA:98856
HP:0001469	Abnormal morphology of the pelvis musculature	203859	ANO5	ORPHA:206549
HP:0011682	Perimembranous ventricular septal defect	2271	FH	OMIM:606812
HP:0011682	Perimembranous ventricular septal defect	22827	PUF60	ORPHA:508498
HP:0011682	Perimembranous ventricular septal defect	91949	COG7	OMIM:608779
HP:0011682	Perimembranous ventricular septal defect	4718	NDUFC2	OMIM:619170
HP:0011682	Perimembranous ventricular septal defect	8260	NAA10	OMIM:300855
HP:0011682	Perimembranous ventricular septal defect	808	CALM3	OMIM:618782
HP:0011682	Perimembranous ventricular septal defect	650	BMP2	OMIM:617877
HP:0011682	Perimembranous ventricular septal defect	1387	CREBBP	OMIM:180849
HP:0011682	Perimembranous ventricular septal defect	2033	EP300	OMIM:180849
HP:0011682	Perimembranous ventricular septal defect	23511	NUP188	OMIM:618804
HP:0011682	Perimembranous ventricular septal defect	5885	RAD21	OMIM:611376
HP:0011682	Perimembranous ventricular septal defect	1107	CHD3	OMIM:618205
HP:0011682	Perimembranous ventricular septal defect	546	ATRX	OMIM:301040
HP:0011682	Perimembranous ventricular septal defect	2627	GATA6	OMIM:600001
HP:0011682	Perimembranous ventricular septal defect	79228	THOC6	ORPHA:363444
HP:0011682	Perimembranous ventricular septal defect	22872	SEC31A	OMIM:618651
HP:0011682	Perimembranous ventricular septal defect	4212	MEIS2	OMIM:600987
HP:0011682	Perimembranous ventricular septal defect	2702	GJA5	OMIM:612474
HP:0011682	Perimembranous ventricular septal defect	2703	GJA8	OMIM:612474
HP:0011682	Perimembranous ventricular septal defect	10370	CITED2	OMIM:614431
HP:0011682	Perimembranous ventricular septal defect	4625	MYH7	OMIM:613426
HP:0011682	Perimembranous ventricular septal defect	79053	ALG8	OMIM:608104
HP:0011682	Perimembranous ventricular septal defect	4713	NDUFB7	OMIM:620135
HP:0011686	Abnormal coronary artery course	8496	PPFIBP1	OMIM:620024
HP:0011686	Abnormal coronary artery course	7086	TKT	ORPHA:488618
HP:0011686	Abnormal coronary artery course	51434	ANAPC7	OMIM:619699
HP:0011687	AV nodal tachycardia	4519	MT-CYB	ORPHA:137675
HP:0011687	AV nodal tachycardia	1349	COX7B	OMIM:309801
HP:0011687	AV nodal tachycardia	3052	HCCS	OMIM:309801
HP:0011687	AV nodal tachycardia	54539	NDUFB11	OMIM:309801
HP:0011687	AV nodal tachycardia	10370	CITED2	ORPHA:99105
HP:0011687	AV nodal tachycardia	7273	TTN	OMIM:611705
HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	6331	SCN5A	OMIM:601144
HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	1788	DNMT3A	ORPHA:404443
HP:0011681	Subarterial ventricular septal defect	3417	IDH1	ORPHA:99646
HP:0008628	Abnormality of the stapes	5718	PSMD12	ORPHA:529962
HP:0008628	Abnormality of the stapes	2186	BPTF	ORPHA:529962
HP:0008628	Abnormality of the stapes	392255	GDF6	OMIM:617898
HP:0008628	Abnormality of the stapes	3423	IDS	ORPHA:217085
HP:0008628	Abnormality of the stapes	3423	IDS	ORPHA:217093
HP:0008628	Abnormality of the stapes	1277	COL1A1	OMIM:166220
HP:0008628	Abnormality of the stapes	1277	COL1A1	OMIM:166200
HP:0008628	Abnormality of the stapes	1278	COL1A2	OMIM:166220
HP:0008628	Abnormality of the stapes	9241	NOG	OMIM:186500
HP:0008628	Abnormality of the stapes	9241	NOG	OMIM:184460
HP:0008628	Abnormality of the stapes	9241	NOG	OMIM:185800
HP:0008628	Abnormality of the stapes	5456	POU3F4	OMIM:304400
HP:0008628	Abnormality of the stapes	5456	POU3F4	ORPHA:1435
HP:0008628	Abnormality of the stapes	10804	GJB6	OMIM:304400
HP:0008628	Abnormality of the stapes	2706	GJB2	OMIM:304400
HP:0008628	Abnormality of the stapes	5885	RAD21	OMIM:614701
HP:0008628	Abnormality of the stapes	3590	IL11RA	OMIM:614188
HP:0008628	Abnormality of the stapes	5167	ENPP1	ORPHA:51608
HP:0008628	Abnormality of the stapes	368	ABCC6	ORPHA:51608
HP:0008628	Abnormality of the stapes	26040	SETBP1	ORPHA:798
HP:0008628	Abnormality of the stapes	10735	STAG2	OMIM:301022
HP:0008629	Pulsatile tinnitus	54949	SDHAF2	OMIM:601650
HP:0008629	Pulsatile tinnitus	54949	SDHAF2	ORPHA:29072
HP:0008629	Pulsatile tinnitus	7428	VHL	ORPHA:29072
HP:0008629	Pulsatile tinnitus	7428	VHL	ORPHA:276621
HP:0008629	Pulsatile tinnitus	1743	DLST	ORPHA:29072
HP:0008629	Pulsatile tinnitus	4191	MDH2	ORPHA:29072
HP:0008629	Pulsatile tinnitus	5979	RET	ORPHA:29072
HP:0008629	Pulsatile tinnitus	5979	RET	ORPHA:276621
HP:0008629	Pulsatile tinnitus	6389	SDHA	ORPHA:29072
HP:0008629	Pulsatile tinnitus	23095	KIF1B	ORPHA:29072
HP:0008629	Pulsatile tinnitus	2271	FH	ORPHA:29072
HP:0008629	Pulsatile tinnitus	8402	SLC25A11	ORPHA:29072
HP:0008629	Pulsatile tinnitus	55654	TMEM127	ORPHA:29072
HP:0008629	Pulsatile tinnitus	4763	NF1	ORPHA:29072
HP:0008629	Pulsatile tinnitus	6391	SDHC	ORPHA:29072
HP:0008629	Pulsatile tinnitus	6391	SDHC	OMIM:605373
HP:0008629	Pulsatile tinnitus	6392	SDHD	ORPHA:29072
HP:0008629	Pulsatile tinnitus	6392	SDHD	OMIM:168000
HP:0008629	Pulsatile tinnitus	6392	SDHD	ORPHA:276621
HP:0008629	Pulsatile tinnitus	6390	SDHB	ORPHA:29072
HP:0008629	Pulsatile tinnitus	6390	SDHB	ORPHA:276621
HP:0008629	Pulsatile tinnitus	6390	SDHB	OMIM:115310
HP:0008629	Pulsatile tinnitus	4149	MAX	ORPHA:29072
HP:0008629	Pulsatile tinnitus	1788	DNMT3A	ORPHA:276621
HP:0008629	Pulsatile tinnitus	2034	EPAS1	ORPHA:276621
HP:0000130	Abnormality of the uterus	668	FOXL2	OMIM:110100
HP:0000130	Abnormality of the uterus	668	FOXL2	ORPHA:572333
HP:0000130	Abnormality of the uterus	668	FOXL2	OMIM:608996
HP:0000130	Abnormality of the uterus	128	ADH5	OMIM:619151
HP:0000130	Abnormality of the uterus	2260	FGFR1	ORPHA:432
HP:0000130	Abnormality of the uterus	81848	SPRY4	ORPHA:432
HP:0000130	Abnormality of the uterus	128674	PROKR2	ORPHA:432
HP:0000130	Abnormality of the uterus	2253	FGF8	ORPHA:432
HP:0000130	Abnormality of the uterus	60675	PROK2	ORPHA:432
HP:0000130	Abnormality of the uterus	55636	CHD7	ORPHA:432
HP:0000130	Abnormality of the uterus	6870	TACR3	ORPHA:432
HP:0000130	Abnormality of the uterus	1848	DUSP6	ORPHA:432
HP:0000130	Abnormality of the uterus	26012	NSMF	ORPHA:432
HP:0000130	Abnormality of the uterus	55717	WDR11	ORPHA:432
HP:0000130	Abnormality of the uterus	9394	HS6ST1	ORPHA:432
HP:0000130	Abnormality of the uterus	2796	GNRH1	ORPHA:432
HP:0000130	Abnormality of the uterus	2796	GNRH1	OMIM:614841
HP:0000130	Abnormality of the uterus	2798	GNRHR	ORPHA:432
HP:0000130	Abnormality of the uterus	84634	KISS1R	ORPHA:432
HP:0000130	Abnormality of the uterus	84634	KISS1R	OMIM:614837
HP:0000130	Abnormality of the uterus	6866	TAC3	ORPHA:432
HP:0000130	Abnormality of the uterus	8822	FGF17	ORPHA:432
HP:0000130	Abnormality of the uterus	3814	KISS1	ORPHA:432
HP:0000130	Abnormality of the uterus	3814	KISS1	OMIM:614842
HP:0000130	Abnormality of the uterus	5447	POR	OMIM:201750
HP:0000130	Abnormality of the uterus	402381	SOHLH1	OMIM:617690
HP:0000130	Abnormality of the uterus	9210	BMP15	OMIM:300510
HP:0000130	Abnormality of the uterus	1349	COX7B	OMIM:309801
HP:0000130	Abnormality of the uterus	3052	HCCS	OMIM:309801
HP:0000130	Abnormality of the uterus	54539	NDUFB11	OMIM:309801
HP:0000130	Abnormality of the uterus	145173	B3GLCT	OMIM:261540
HP:0000130	Abnormality of the uterus	145173	B3GLCT	ORPHA:709
HP:0000130	Abnormality of the uterus	54361	WNT4	ORPHA:247768
HP:0000130	Abnormality of the uterus	2516	NR5A1	OMIM:612964
HP:0000130	Abnormality of the uterus	2516	NR5A1	OMIM:612965
HP:0000130	Abnormality of the uterus	80067	DCAF17	ORPHA:3464
HP:0000130	Abnormality of the uterus	80067	DCAF17	OMIM:241080
HP:0000130	Abnormality of the uterus	2099	ESR1	ORPHA:785
HP:0000130	Abnormality of the uterus	2099	ESR1	OMIM:615363
HP:0000130	Abnormality of the uterus	317761	C14orf39	OMIM:619203
HP:0000130	Abnormality of the uterus	1584	CYP11B1	OMIM:202010
HP:0000130	Abnormality of the uterus	3664	IRF6	OMIM:119500
HP:0000130	Abnormality of the uterus	57122	NUP107	OMIM:618078
HP:0000130	Abnormality of the uterus	1528	CYB5A	ORPHA:90796
HP:0000130	Abnormality of the uterus	1586	CYP17A1	ORPHA:90796
HP:0000130	Abnormality of the uterus	9928	KIF14	OMIM:616258
HP:0000130	Abnormality of the uterus	9928	KIF14	OMIM:617914
HP:0000130	Abnormality of the uterus	56945	MRPS22	OMIM:618117
HP:0000130	Abnormality of the uterus	8192	CLPP	OMIM:614129
HP:0000130	Abnormality of the uterus	658	BMPR1B	OMIM:609441
HP:0000130	Abnormality of the uterus	23514	SPIDR	OMIM:619665
HP:0000130	Abnormality of the uterus	26284	ERAL1	OMIM:617565
HP:0000130	Abnormality of the uterus	4439	MSH5	OMIM:617442
HP:0000130	Abnormality of the uterus	51199	NIN	OMIM:614851
HP:0000130	Abnormality of the uterus	55012	PPP2R3C	OMIM:618419
HP:0000130	Abnormality of the uterus	344018	FIGLA	OMIM:612310
HP:0000130	Abnormality of the uterus	6664	SOX11	OMIM:615866
HP:0000130	Abnormality of the uterus	50846	DHH	OMIM:233420
HP:0000130	Abnormality of the uterus	50846	DHH	ORPHA:168563
HP:0000130	Abnormality of the uterus	23476	BRD4	ORPHA:199
HP:0000130	Abnormality of the uterus	9126	SMC3	ORPHA:199
HP:0000130	Abnormality of the uterus	8243	SMC1A	ORPHA:199
HP:0000130	Abnormality of the uterus	25836	NIPBL	ORPHA:199
HP:0000130	Abnormality of the uterus	55869	HDAC8	ORPHA:199
HP:0000130	Abnormality of the uterus	5885	RAD21	ORPHA:199
HP:0000130	Abnormality of the uterus	6662	SOX9	ORPHA:2138
HP:0000130	Abnormality of the uterus	1131	CHRM3	ORPHA:2970
HP:0000130	Abnormality of the uterus	1312	COMT	ORPHA:567
HP:0000130	Abnormality of the uterus	221037	JMJD1C	ORPHA:567
HP:0000130	Abnormality of the uterus	2812	GP1BB	ORPHA:567
HP:0000130	Abnormality of the uterus	6239	RREB1	ORPHA:567
HP:0000130	Abnormality of the uterus	6899	TBX1	ORPHA:567
HP:0000130	Abnormality of the uterus	7290	HIRA	ORPHA:567
HP:0000130	Abnormality of the uterus	9632	SEC24C	ORPHA:567
HP:0000130	Abnormality of the uterus	7353	UFD1	ORPHA:567
HP:0000130	Abnormality of the uterus	421	ARVCF	ORPHA:567
HP:0000130	Abnormality of the uterus	10483	SEC23B	ORPHA:201
HP:0000130	Abnormality of the uterus	6390	SDHB	ORPHA:201
HP:0000130	Abnormality of the uterus	6392	SDHD	ORPHA:201
HP:0000130	Abnormality of the uterus	6391	SDHC	ORPHA:201
HP:0000130	Abnormality of the uterus	205717	USF3	ORPHA:201
HP:0000130	Abnormality of the uterus	100144748	KLLN	ORPHA:201
HP:0000130	Abnormality of the uterus	54903	MKS1	OMIM:249000
HP:0000130	Abnormality of the uterus	80000	GREB1L	OMIM:617805
HP:0000130	Abnormality of the uterus	5080	PAX6	OMIM:194072
HP:0000130	Abnormality of the uterus	2271	FH	OMIM:150800
HP:0000130	Abnormality of the uterus	2271	FH	ORPHA:523
HP:0000130	Abnormality of the uterus	79577	CDC73	ORPHA:143
HP:0000130	Abnormality of the uterus	79577	CDC73	ORPHA:99880
HP:0000130	Abnormality of the uterus	4437	MSH3	ORPHA:480536
HP:0000130	Abnormality of the uterus	4437	MSH3	OMIM:617100
HP:0000130	Abnormality of the uterus	6299	SALL1	OMIM:107480
HP:0000130	Abnormality of the uterus	219844	HYLS1	OMIM:236680
HP:0000130	Abnormality of the uterus	51339	DACT1	OMIM:617466
HP:0000130	Abnormality of the uterus	26227	PHGDH	OMIM:256520
HP:0000130	Abnormality of the uterus	1281	COL3A1	OMIM:130050
HP:0000130	Abnormality of the uterus	1281	COL3A1	ORPHA:286
HP:0000130	Abnormality of the uterus	1277	COL1A1	ORPHA:287
HP:0000130	Abnormality of the uterus	1289	COL5A1	ORPHA:287
HP:0000130	Abnormality of the uterus	1290	COL5A2	ORPHA:287
HP:0000130	Abnormality of the uterus	4088	SMAD3	ORPHA:284984
HP:0000130	Abnormality of the uterus	4088	SMAD3	OMIM:613795
HP:0000130	Abnormality of the uterus	6197	RPS6KA3	OMIM:303600
HP:0000130	Abnormality of the uterus	2006	ELN	OMIM:123700
HP:0000130	Abnormality of the uterus	745	MYRF	OMIM:618280
HP:0000130	Abnormality of the uterus	57492	ARID1B	OMIM:135900
HP:0000130	Abnormality of the uterus	7476	WNT7A	ORPHA:2879
HP:0000130	Abnormality of the uterus	7476	WNT7A	OMIM:276820
HP:0000130	Abnormality of the uterus	1583	CYP11A1	ORPHA:168558
HP:0000130	Abnormality of the uterus	1583	CYP11A1	ORPHA:289548
HP:0000130	Abnormality of the uterus	57647	DHX37	OMIM:273250
HP:0000130	Abnormality of the uterus	79770	TXNDC15	OMIM:619879
HP:0000130	Abnormality of the uterus	9939	RBM8A	ORPHA:3320
HP:0000130	Abnormality of the uterus	9939	RBM8A	OMIM:274000
HP:0000130	Abnormality of the uterus	114034	TOE1	ORPHA:284339
HP:0000130	Abnormality of the uterus	9562	MINPP1	ORPHA:284339
HP:0000130	Abnormality of the uterus	8626	TP63	ORPHA:69085
HP:0000130	Abnormality of the uterus	5518	PPP2R1A	ORPHA:457284
HP:0000130	Abnormality of the uterus	53834	FGFRL1	OMIM:194190
HP:0000130	Abnormality of the uterus	1487	CTBP1	OMIM:194190
HP:0000130	Abnormality of the uterus	3954	LETM1	OMIM:194190
HP:0000130	Abnormality of the uterus	7468	NSD2	OMIM:194190
HP:0000130	Abnormality of the uterus	10815	CPLX1	OMIM:194190
HP:0000130	Abnormality of the uterus	2294	FOXF1	OMIM:265380
HP:0000130	Abnormality of the uterus	7490	WT1	OMIM:608978
HP:0000130	Abnormality of the uterus	341640	FREM2	ORPHA:2052
HP:0000130	Abnormality of the uterus	80144	FRAS1	ORPHA:2052
HP:0000130	Abnormality of the uterus	80144	FRAS1	OMIM:219000
HP:0000130	Abnormality of the uterus	23426	GRIP1	ORPHA:2052
HP:0000130	Abnormality of the uterus	10262	SF3B4	OMIM:154400
HP:0000130	Abnormality of the uterus	6928	HNF1B	OMIM:137920
HP:0000130	Abnormality of the uterus	6928	HNF1B	ORPHA:93111
HP:0000130	Abnormality of the uterus	92002	CCNQ	OMIM:300707
HP:0000130	Abnormality of the uterus	92002	CCNQ	ORPHA:140952
HP:0000130	Abnormality of the uterus	23556	PIGN	ORPHA:2059
HP:0000130	Abnormality of the uterus	3110	MNX1	OMIM:176450
HP:0000130	Abnormality of the uterus	672	BRCA1	ORPHA:84
HP:0000130	Abnormality of the uterus	10459	MAD2L2	ORPHA:84
HP:0000130	Abnormality of the uterus	7516	XRCC2	ORPHA:84
HP:0000130	Abnormality of the uterus	29089	UBE2T	ORPHA:84
HP:0000130	Abnormality of the uterus	675	BRCA2	ORPHA:84
HP:0000130	Abnormality of the uterus	55120	FANCL	ORPHA:84
HP:0000130	Abnormality of the uterus	2177	FANCD2	ORPHA:84
HP:0000130	Abnormality of the uterus	2175	FANCA	ORPHA:84
HP:0000130	Abnormality of the uterus	2187	FANCB	ORPHA:84
HP:0000130	Abnormality of the uterus	2176	FANCC	ORPHA:84
HP:0000130	Abnormality of the uterus	2178	FANCE	ORPHA:84
HP:0000130	Abnormality of the uterus	2188	FANCF	ORPHA:84
HP:0000130	Abnormality of the uterus	2189	FANCG	ORPHA:84
HP:0000130	Abnormality of the uterus	5888	RAD51	ORPHA:84
HP:0000130	Abnormality of the uterus	5889	RAD51C	ORPHA:84
HP:0000130	Abnormality of the uterus	55159	RFWD3	ORPHA:84
HP:0000130	Abnormality of the uterus	83990	BRIP1	ORPHA:84
HP:0000130	Abnormality of the uterus	57697	FANCM	ORPHA:84
HP:0000130	Abnormality of the uterus	79728	PALB2	ORPHA:84
HP:0000130	Abnormality of the uterus	84464	SLX4	ORPHA:84
HP:0000130	Abnormality of the uterus	2072	ERCC4	ORPHA:84
HP:0000130	Abnormality of the uterus	55215	FANCI	ORPHA:84
HP:0000130	Abnormality of the uterus	64220	STRA6	OMIM:601186
HP:0000130	Abnormality of the uterus	3209	HOXA13	ORPHA:2438
HP:0000130	Abnormality of the uterus	157570	ESCO2	OMIM:268300
HP:0000130	Abnormality of the uterus	4036	LRP2	OMIM:222448
HP:0000130	Abnormality of the uterus	4036	LRP2	ORPHA:2143
HP:0000130	Abnormality of the uterus	1717	DHCR7	OMIM:270400
HP:0000130	Abnormality of the uterus	79796	ALG9	ORPHA:79328
HP:0000130	Abnormality of the uterus	79796	ALG9	OMIM:263210
HP:0000130	Abnormality of the uterus	7148	TNXB	OMIM:606408
HP:0000130	Abnormality of the uterus	6926	TBX3	OMIM:181450
HP:0000130	Abnormality of the uterus	8516	ITGA8	OMIM:191830
HP:0000130	Abnormality of the uterus	54101	RIPK4	OMIM:263650
HP:0000130	Abnormality of the uterus	4281	MID1	ORPHA:2745
HP:0000130	Abnormality of the uterus	23395	LARS2	OMIM:615300
HP:0000130	Abnormality of the uterus	23384	SPECC1L	OMIM:145420
HP:0000130	Abnormality of the uterus	5915	RARB	OMIM:615524
HP:0000130	Abnormality of the uterus	2263	FGFR2	ORPHA:2363
HP:0000130	Abnormality of the uterus	2255	FGF10	ORPHA:2363
HP:0000130	Abnormality of the uterus	26040	SETBP1	OMIM:269150
HP:0000130	Abnormality of the uterus	6714	SRC	OMIM:114500
HP:0000130	Abnormality of the uterus	201163	FLCN	OMIM:114500
HP:0000130	Abnormality of the uterus	10395	DLC1	OMIM:114500
HP:0000130	Abnormality of the uterus	11200	CHEK2	OMIM:114500
HP:0000130	Abnormality of the uterus	8313	AXIN2	OMIM:114500
HP:0000130	Abnormality of the uterus	5290	PIK3CA	OMIM:114500
HP:0000130	Abnormality of the uterus	2033	EP300	OMIM:114500
HP:0000130	Abnormality of the uterus	5782	PTPN12	OMIM:114500
HP:0000130	Abnormality of the uterus	5320	PLA2G2A	OMIM:114500
HP:0000130	Abnormality of the uterus	6790	AURKA	OMIM:114500
HP:0000130	Abnormality of the uterus	1630	DCC	OMIM:114500
HP:0000130	Abnormality of the uterus	27030	MLH3	OMIM:114500
HP:0000130	Abnormality of the uterus	581	BAX	OMIM:114500
HP:0000130	Abnormality of the uterus	25788	RAD54B	OMIM:114500
HP:0000130	Abnormality of the uterus	595	CCND1	OMIM:114500
HP:0000130	Abnormality of the uterus	699	BUB1	OMIM:114500
HP:0000130	Abnormality of the uterus	701	BUB1B	OMIM:114500
HP:0000130	Abnormality of the uterus	7097	TLR2	OMIM:114500
HP:0000130	Abnormality of the uterus	4893	NRAS	OMIM:114500
HP:0000130	Abnormality of the uterus	324	APC	OMIM:114500
HP:0000130	Abnormality of the uterus	1499	CTNNB1	OMIM:114500
HP:0000130	Abnormality of the uterus	7157	TP53	OMIM:114500
HP:0000130	Abnormality of the uterus	4163	MCC	OMIM:114500
HP:0000130	Abnormality of the uterus	207	AKT1	OMIM:114500
HP:0000130	Abnormality of the uterus	5157	PDGFRL	OMIM:114500
HP:0000130	Abnormality of the uterus	5795	PTPRJ	OMIM:114500
HP:0000130	Abnormality of the uterus	673	BRAF	OMIM:114500
HP:0000130	Abnormality of the uterus	2535	FZD2	OMIM:164745
HP:0000130	Abnormality of the uterus	8312	AXIN1	OMIM:607864
HP:0000130	Abnormality of the uterus	55112	DYNC2I1	ORPHA:93271
HP:0000130	Abnormality of the uterus	57560	IFT80	ORPHA:93271
HP:0000130	Abnormality of the uterus	57539	WDR35	ORPHA:93271
HP:0000130	Abnormality of the uterus	79659	DYNC2H1	ORPHA:93271
HP:0000130	Abnormality of the uterus	89891	DYNC2I2	ORPHA:93271
HP:0000130	Abnormality of the uterus	2625	GATA3	ORPHA:2237
HP:0000130	Abnormality of the uterus	2625	GATA3	OMIM:146255
HP:0000130	Abnormality of the uterus	4659	PPP1R12A	OMIM:618820
HP:0000130	Abnormality of the uterus	27152	INTU	OMIM:617925
HP:0000130	Abnormality of the uterus	29893	PSMC3IP	ORPHA:243
HP:0000130	Abnormality of the uterus	171568	POLR3H	ORPHA:243
HP:0000130	Abnormality of the uterus	125150	ZSWIM7	ORPHA:243
HP:0000130	Abnormality of the uterus	2492	FSHR	ORPHA:243
HP:0000130	Abnormality of the uterus	646	BNC1	ORPHA:243
HP:0000130	Abnormality of the uterus	2737	GLI3	ORPHA:672
HP:0000130	Abnormality of the uterus	64218	SEMA4A	ORPHA:440437
HP:0000130	Abnormality of the uterus	657	BMPR1A	ORPHA:440437
HP:0000130	Abnormality of the uterus	6224	RPS20	ORPHA:440437
HP:0000130	Abnormality of the uterus	4665	NAB2	ORPHA:2126
HP:0000130	Abnormality of the uterus	6778	STAT6	ORPHA:2126
HP:0000130	Abnormality of the uterus	5728	PTEN	ORPHA:109
HP:0000130	Abnormality of the uterus	2313	FLI1	ORPHA:370348
HP:0000130	Abnormality of the uterus	1288	COL4A6	ORPHA:1018
HP:0000130	Abnormality of the uterus	1287	COL4A5	ORPHA:1018
HP:0000130	Abnormality of the uterus	4292	MLH1	ORPHA:587
HP:0000130	Abnormality of the uterus	2956	MSH6	ORPHA:587
HP:0000130	Abnormality of the uterus	2956	MSH6	OMIM:614350
HP:0000130	Abnormality of the uterus	2956	MSH6	OMIM:608089
HP:0000130	Abnormality of the uterus	4436	MSH2	ORPHA:587
HP:0000130	Abnormality of the uterus	388662	SLC6A17	ORPHA:457212
HP:0000130	Abnormality of the uterus	5424	POLD1	OMIM:612591
HP:0000130	Abnormality of the uterus	5424	POLD1	ORPHA:447877
HP:0000130	Abnormality of the uterus	26585	GREM1	ORPHA:157794
HP:0000130	Abnormality of the uterus	4913	NTHL1	ORPHA:454840
HP:0000130	Abnormality of the uterus	4913	NTHL1	OMIM:616415
HP:0000130	Abnormality of the uterus	4072	EPCAM	OMIM:613244
HP:0000130	Abnormality of the uterus	5395	PMS2	OMIM:614337
HP:0000130	Abnormality of the uterus	5426	POLE	ORPHA:447877
HP:0000130	Abnormality of the uterus	999	CDH1	OMIM:608089
HP:0000130	Abnormality of the uterus	367	AR	ORPHA:99429
HP:0000130	Abnormality of the uterus	6736	SRY	ORPHA:1772
HP:0000130	Abnormality of the uterus	6794	STK11	ORPHA:2869
HP:0000130	Abnormality of the uterus	7852	CXCR4	ORPHA:51636
HP:0000130	Abnormality of the uterus	2261	FGFR3	OMIM:603956
HP:0000130	Abnormality of the uterus	1027	CDKN1B	ORPHA:276152
HP:0000130	Abnormality of the uterus	79228	THOC6	ORPHA:363444
HP:0000130	Abnormality of the uterus	79228	THOC6	OMIM:613680
HP:0000130	Abnormality of the uterus	5340	PLG	ORPHA:722
HP:0000130	Abnormality of the uterus	2783	GNB2	OMIM:619503
HP:0000130	Abnormality of the uterus	2624	GATA2	OMIM:614172
HP:0000130	Abnormality of the uterus	7046	TGFBR1	ORPHA:60030
HP:0000130	Abnormality of the uterus	10526	IPO8	ORPHA:60030
HP:0000130	Abnormality of the uterus	7048	TGFBR2	ORPHA:60030
HP:0000130	Abnormality of the uterus	4693	NDP	ORPHA:649
HP:0008736	Hypoplasia of penis	8450	CUL4B	OMIM:300354
HP:0008736	Hypoplasia of penis	8294	H4C9	OMIM:619951
HP:0008736	Hypoplasia of penis	10046	MAMLD1	ORPHA:456328
HP:0008736	Hypoplasia of penis	10046	MAMLD1	ORPHA:95706
HP:0008736	Hypoplasia of penis	4534	MTM1	ORPHA:456328
HP:0008736	Hypoplasia of penis	4750	NEK1	OMIM:263520
HP:0008736	Hypoplasia of penis	128674	PROKR2	OMIM:244200
HP:0008736	Hypoplasia of penis	128674	PROKR2	ORPHA:478
HP:0008736	Hypoplasia of penis	128674	PROKR2	ORPHA:432
HP:0008736	Hypoplasia of penis	201595	STT3B	OMIM:615597
HP:0008736	Hypoplasia of penis	201595	STT3B	ORPHA:370924
HP:0008736	Hypoplasia of penis	6938	TCF12	OMIM:619718
HP:0008736	Hypoplasia of penis	91801	ALKBH8	OMIM:618504
HP:0008736	Hypoplasia of penis	3209	HOXA13	OMIM:140000
HP:0008736	Hypoplasia of penis	80144	FRAS1	OMIM:219000
HP:0008736	Hypoplasia of penis	5447	POR	ORPHA:95699
HP:0008736	Hypoplasia of penis	5447	POR	OMIM:201750
HP:0008736	Hypoplasia of penis	4983	OPHN1	OMIM:300486
HP:0008736	Hypoplasia of penis	197131	UBR1	OMIM:243800
HP:0008736	Hypoplasia of penis	4281	MID1	OMIM:300000
HP:0008736	Hypoplasia of penis	6716	SRD5A2	OMIM:264600
HP:0008736	Hypoplasia of penis	374654	KIF7	OMIM:200990
HP:0008736	Hypoplasia of penis	9578	CDC42BPB	OMIM:619841
HP:0008736	Hypoplasia of penis	1855	DVL1	OMIM:616331
HP:0008736	Hypoplasia of penis	1855	DVL1	OMIM:180700
HP:0008736	Hypoplasia of penis	58	ACTA1	ORPHA:171430
HP:0008736	Hypoplasia of penis	4703	NEB	ORPHA:171430
HP:0008736	Hypoplasia of penis	131377	KLHL40	ORPHA:171430
HP:0008736	Hypoplasia of penis	10324	KLHL41	ORPHA:171430
HP:0008736	Hypoplasia of penis	56203	LMOD3	ORPHA:171430
HP:0008736	Hypoplasia of penis	1723	DHODH	OMIM:263750
HP:0008736	Hypoplasia of penis	1528	CYB5A	ORPHA:90796
HP:0008736	Hypoplasia of penis	1528	CYB5A	OMIM:250790
HP:0008736	Hypoplasia of penis	1586	CYP17A1	ORPHA:90796
HP:0008736	Hypoplasia of penis	1586	CYP17A1	ORPHA:90793
HP:0008736	Hypoplasia of penis	1841	DTYMK	OMIM:619847
HP:0008736	Hypoplasia of penis	4010	LMX1B	ORPHA:495818
HP:0008736	Hypoplasia of penis	6812	STXBP1	ORPHA:495818
HP:0008736	Hypoplasia of penis	367	AR	ORPHA:90797
HP:0008736	Hypoplasia of penis	367	AR	OMIM:312300
HP:0008736	Hypoplasia of penis	367	AR	ORPHA:95706
HP:0008736	Hypoplasia of penis	79947	DHDDS	OMIM:613861
HP:0008736	Hypoplasia of penis	56623	INPP5E	ORPHA:75858
HP:0008736	Hypoplasia of penis	56623	INPP5E	OMIM:610156
HP:0008736	Hypoplasia of penis	25782	RAB3GAP2	OMIM:212720
HP:0008736	Hypoplasia of penis	25782	RAB3GAP2	OMIM:614225
HP:0008736	Hypoplasia of penis	84634	KISS1R	OMIM:614837
HP:0008736	Hypoplasia of penis	84634	KISS1R	ORPHA:432
HP:0008736	Hypoplasia of penis	26012	NSMF	OMIM:614838
HP:0008736	Hypoplasia of penis	26012	NSMF	ORPHA:432
HP:0008736	Hypoplasia of penis	1161	ERCC8	OMIM:216400
HP:0008736	Hypoplasia of penis	55636	CHD7	ORPHA:138
HP:0008736	Hypoplasia of penis	55636	CHD7	OMIM:214800
HP:0008736	Hypoplasia of penis	55636	CHD7	ORPHA:478
HP:0008736	Hypoplasia of penis	55636	CHD7	ORPHA:432
HP:0008736	Hypoplasia of penis	9723	SEMA3E	ORPHA:138
HP:0008736	Hypoplasia of penis	9723	SEMA3E	OMIM:146110
HP:0008736	Hypoplasia of penis	3703	STT3A	ORPHA:370921
HP:0008736	Hypoplasia of penis	170302	ARX	OMIM:300215
HP:0008736	Hypoplasia of penis	170302	ARX	ORPHA:1934
HP:0008736	Hypoplasia of penis	170302	ARX	OMIM:308350
HP:0008736	Hypoplasia of penis	10584	COLEC10	OMIM:248340
HP:0008736	Hypoplasia of penis	6870	TACR3	OMIM:614840
HP:0008736	Hypoplasia of penis	6870	TACR3	ORPHA:478
HP:0008736	Hypoplasia of penis	6870	TACR3	ORPHA:432
HP:0008736	Hypoplasia of penis	23522	KAT6B	OMIM:606170
HP:0008736	Hypoplasia of penis	1889	ECE1	OMIM:613870
HP:0008736	Hypoplasia of penis	3952	LEP	OMIM:614962
HP:0008736	Hypoplasia of penis	2796	GNRH1	OMIM:614841
HP:0008736	Hypoplasia of penis	2796	GNRH1	OMIM:146110
HP:0008736	Hypoplasia of penis	2796	GNRH1	ORPHA:432
HP:0008736	Hypoplasia of penis	2688	GH1	OMIM:612781
HP:0008736	Hypoplasia of penis	815	CAMK2A	OMIM:617798
HP:0008736	Hypoplasia of penis	5015	OTX2	OMIM:610125
HP:0008736	Hypoplasia of penis	84100	ARL6	OMIM:209900
HP:0008736	Hypoplasia of penis	79140	CCDC28B	OMIM:209900
HP:0008736	Hypoplasia of penis	582	BBS1	OMIM:209900
HP:0008736	Hypoplasia of penis	114034	TOE1	OMIM:614969
HP:0008736	Hypoplasia of penis	114034	TOE1	ORPHA:284339
HP:0008736	Hypoplasia of penis	79087	ALG12	OMIM:607143
HP:0008736	Hypoplasia of penis	79087	ALG12	ORPHA:79324
HP:0008736	Hypoplasia of penis	1717	DHCR7	OMIM:270400
HP:0008736	Hypoplasia of penis	23116	TOGARAM1	OMIM:619185
HP:0008736	Hypoplasia of penis	9839	ZEB2	ORPHA:261552
HP:0008736	Hypoplasia of penis	9839	ZEB2	ORPHA:261537
HP:0008736	Hypoplasia of penis	84823	LMNB2	OMIM:619180
HP:0008736	Hypoplasia of penis	23347	SMCHD1	OMIM:603457
HP:0008736	Hypoplasia of penis	6926	TBX3	OMIM:181450
HP:0008736	Hypoplasia of penis	9896	FIG4	ORPHA:3472
HP:0008736	Hypoplasia of penis	9896	FIG4	OMIM:216340
HP:0008736	Hypoplasia of penis	55697	VAC14	ORPHA:3472
HP:0008736	Hypoplasia of penis	283987	HID1	OMIM:619983
HP:0008736	Hypoplasia of penis	1656	DDX6	OMIM:618653
HP:0008736	Hypoplasia of penis	132158	GLYCTK	OMIM:220120
HP:0008736	Hypoplasia of penis	80776	B9D2	OMIM:614175
HP:0008736	Hypoplasia of penis	55148	UBR7	OMIM:619189
HP:0008736	Hypoplasia of penis	558	AXL	OMIM:146110
HP:0008736	Hypoplasia of penis	2798	GNRHR	OMIM:146110
HP:0008736	Hypoplasia of penis	2798	GNRHR	ORPHA:432
HP:0008736	Hypoplasia of penis	10011	SRA1	OMIM:146110
HP:0008736	Hypoplasia of penis	55717	WDR11	OMIM:146110
HP:0008736	Hypoplasia of penis	55717	WDR11	ORPHA:478
HP:0008736	Hypoplasia of penis	55717	WDR11	ORPHA:432
HP:0008736	Hypoplasia of penis	8822	FGF17	OMIM:146110
HP:0008736	Hypoplasia of penis	8822	FGF17	ORPHA:478
HP:0008736	Hypoplasia of penis	8822	FGF17	ORPHA:432
HP:0008736	Hypoplasia of penis	1848	DUSP6	OMIM:146110
HP:0008736	Hypoplasia of penis	1848	DUSP6	ORPHA:478
HP:0008736	Hypoplasia of penis	1848	DUSP6	ORPHA:432
HP:0008736	Hypoplasia of penis	81848	SPRY4	OMIM:146110
HP:0008736	Hypoplasia of penis	81848	SPRY4	ORPHA:478
HP:0008736	Hypoplasia of penis	81848	SPRY4	ORPHA:432
HP:0008736	Hypoplasia of penis	285025	CCDC141	OMIM:146110
HP:0008736	Hypoplasia of penis	285025	CCDC141	ORPHA:478
HP:0008736	Hypoplasia of penis	389549	FEZF1	OMIM:146110
HP:0008736	Hypoplasia of penis	389549	FEZF1	OMIM:616030
HP:0008736	Hypoplasia of penis	389549	FEZF1	ORPHA:478
HP:0008736	Hypoplasia of penis	79813	EHMT1	OMIM:610253
HP:0008736	Hypoplasia of penis	1009	CDH11	ORPHA:1299
HP:0008736	Hypoplasia of penis	1954	MEGF8	OMIM:614976
HP:0008736	Hypoplasia of penis	2783	GNB2	OMIM:619503
HP:0008736	Hypoplasia of penis	6662	SOX9	ORPHA:251510
HP:0008736	Hypoplasia of penis	6845	VAMP7	ORPHA:251510
HP:0008736	Hypoplasia of penis	51741	WWOX	ORPHA:251510
HP:0008736	Hypoplasia of penis	4214	MAP3K1	ORPHA:251510
HP:0008736	Hypoplasia of penis	2516	NR5A1	ORPHA:251510
HP:0008736	Hypoplasia of penis	2516	NR5A1	OMIM:617480
HP:0008736	Hypoplasia of penis	7490	WT1	ORPHA:251510
HP:0008736	Hypoplasia of penis	58524	DMRT3	ORPHA:251510
HP:0008736	Hypoplasia of penis	57647	DHX37	ORPHA:251510
HP:0008736	Hypoplasia of penis	6736	SRY	ORPHA:251510
HP:0008736	Hypoplasia of penis	6736	SRY	ORPHA:1772
HP:0008736	Hypoplasia of penis	23414	ZFPM2	ORPHA:251510
HP:0008736	Hypoplasia of penis	190	NR0B1	ORPHA:251510
HP:0008736	Hypoplasia of penis	2626	GATA4	ORPHA:251510
HP:0008736	Hypoplasia of penis	1028	CDKN1C	OMIM:614732
HP:0008736	Hypoplasia of penis	26005	C2CD3	OMIM:615948
HP:0008736	Hypoplasia of penis	26040	SETBP1	OMIM:269150
HP:0008736	Hypoplasia of penis	26040	SETBP1	ORPHA:798
HP:0008736	Hypoplasia of penis	63901	FAM111A	OMIM:602361
HP:0008736	Hypoplasia of penis	7840	ALMS1	ORPHA:64
HP:0008736	Hypoplasia of penis	79659	DYNC2H1	OMIM:613091
HP:0008736	Hypoplasia of penis	253738	EBF3	OMIM:617330
HP:0008736	Hypoplasia of penis	6905	TBCE	OMIM:241410
HP:0008736	Hypoplasia of penis	1349	COX7B	OMIM:309801
HP:0008736	Hypoplasia of penis	3052	HCCS	OMIM:309801
HP:0008736	Hypoplasia of penis	54539	NDUFB11	OMIM:309801
HP:0008736	Hypoplasia of penis	8879	SGPL1	OMIM:617575
HP:0008736	Hypoplasia of penis	80067	DCAF17	ORPHA:3464
HP:0008736	Hypoplasia of penis	80067	DCAF17	OMIM:241080
HP:0008736	Hypoplasia of penis	1859	DYRK1A	ORPHA:464311
HP:0008736	Hypoplasia of penis	1859	DYRK1A	ORPHA:268261
HP:0008736	Hypoplasia of penis	2736	GLI2	OMIM:610829
HP:0008736	Hypoplasia of penis	2736	GLI2	OMIM:615849
HP:0008736	Hypoplasia of penis	10236	HNRNPR	OMIM:620073
HP:0008736	Hypoplasia of penis	79718	TBL1XR1	OMIM:602342
HP:0008736	Hypoplasia of penis	5700	PSMC1	OMIM:620071
HP:0008736	Hypoplasia of penis	79228	THOC6	ORPHA:363444
HP:0008736	Hypoplasia of penis	11041	B4GAT1	OMIM:615287
HP:0008736	Hypoplasia of penis	3972	LHB	OMIM:228300
HP:0008736	Hypoplasia of penis	59336	PRDM13	OMIM:619761
HP:0008736	Hypoplasia of penis	5591	PRKDC	OMIM:615966
HP:0008736	Hypoplasia of penis	6925	TCF4	OMIM:610954
HP:0008736	Hypoplasia of penis	6925	TCF4	ORPHA:2896
HP:0008736	Hypoplasia of penis	51085	MLXIPL	OMIM:194050
HP:0008736	Hypoplasia of penis	2006	ELN	OMIM:194050
HP:0008736	Hypoplasia of penis	3911	LAMA5	OMIM:620076
HP:0008736	Hypoplasia of penis	2535	FZD2	OMIM:164745
HP:0008736	Hypoplasia of penis	4920	ROR2	OMIM:268310
HP:0008736	Hypoplasia of penis	4920	ROR2	OMIM:113000
HP:0008736	Hypoplasia of penis	63895	PIEZO2	OMIM:248700
HP:0008736	Hypoplasia of penis	8242	KDM5C	OMIM:300534
HP:0008736	Hypoplasia of penis	55120	FANCL	OMIM:614083
HP:0008736	Hypoplasia of penis	9968	MED12	OMIM:300895
HP:0008736	Hypoplasia of penis	9394	HS6ST1	OMIM:614880
HP:0008736	Hypoplasia of penis	9394	HS6ST1	ORPHA:478
HP:0008736	Hypoplasia of penis	9394	HS6ST1	ORPHA:432
HP:0008736	Hypoplasia of penis	10661	KLF1	OMIM:613673
HP:0008736	Hypoplasia of penis	546	ATRX	OMIM:309580
HP:0008736	Hypoplasia of penis	546	ATRX	OMIM:301040
HP:0008736	Hypoplasia of penis	701	BUB1B	OMIM:257300
HP:0008736	Hypoplasia of penis	3730	ANOS1	OMIM:308700
HP:0008736	Hypoplasia of penis	3730	ANOS1	ORPHA:478
HP:0008736	Hypoplasia of penis	5781	PTPN11	OMIM:151100
HP:0008736	Hypoplasia of penis	54101	RIPK4	OMIM:263650
HP:0008736	Hypoplasia of penis	129880	BBS5	OMIM:615983
HP:0008736	Hypoplasia of penis	27152	INTU	OMIM:617925
HP:0008736	Hypoplasia of penis	27152	INTU	OMIM:617926
HP:0008736	Hypoplasia of penis	5426	POLE	OMIM:618336
HP:0008736	Hypoplasia of penis	7319	UBE2A	ORPHA:163956
HP:0008736	Hypoplasia of penis	7319	UBE2A	OMIM:300860
HP:0008736	Hypoplasia of penis	10371	SEMA3A	OMIM:614897
HP:0008736	Hypoplasia of penis	10371	SEMA3A	ORPHA:478
HP:0008736	Hypoplasia of penis	10535	RNASEH2A	ORPHA:51
HP:0008736	Hypoplasia of penis	84153	RNASEH2C	ORPHA:51
HP:0008736	Hypoplasia of penis	25939	SAMHD1	ORPHA:51
HP:0008736	Hypoplasia of penis	79621	RNASEH2B	ORPHA:51
HP:0008736	Hypoplasia of penis	103	ADAR	ORPHA:51
HP:0008736	Hypoplasia of penis	11277	TREX1	ORPHA:51
HP:0008736	Hypoplasia of penis	100147744	RNU7-1	ORPHA:51
HP:0008736	Hypoplasia of penis	100147744	RNU7-1	OMIM:619487
HP:0008736	Hypoplasia of penis	134353	LSM11	ORPHA:51
HP:0008736	Hypoplasia of penis	64135	IFIH1	ORPHA:51
HP:0008736	Hypoplasia of penis	6792	CDKL5	ORPHA:1934
HP:0008736	Hypoplasia of penis	3736	KCNA1	ORPHA:1934
HP:0008736	Hypoplasia of penis	9091	PIGQ	ORPHA:1934
HP:0008736	Hypoplasia of penis	2775	GNAO1	ORPHA:1934
HP:0008736	Hypoplasia of penis	81603	TRIM8	ORPHA:1934
HP:0008736	Hypoplasia of penis	2902	GRIN1	ORPHA:1934
HP:0008736	Hypoplasia of penis	79751	SLC25A22	ORPHA:1934
HP:0008736	Hypoplasia of penis	150094	SIK1	ORPHA:1934
HP:0008736	Hypoplasia of penis	8573	CASK	ORPHA:1934
HP:0008736	Hypoplasia of penis	23312	DMXL2	ORPHA:1934
HP:0008736	Hypoplasia of penis	2917	GRM7	ORPHA:1934
HP:0008736	Hypoplasia of penis	11284	PNKP	ORPHA:1934
HP:0008736	Hypoplasia of penis	6326	SCN2A	ORPHA:1934
HP:0008736	Hypoplasia of penis	51227	PIGP	ORPHA:1934
HP:0008736	Hypoplasia of penis	6324	SCN1B	ORPHA:1934
HP:0008736	Hypoplasia of penis	4761	NEUROD2	ORPHA:1934
HP:0008736	Hypoplasia of penis	2260	FGFR1	ORPHA:478
HP:0008736	Hypoplasia of penis	2260	FGFR1	ORPHA:432
HP:0008736	Hypoplasia of penis	2260	FGFR1	OMIM:147950
HP:0008736	Hypoplasia of penis	2260	FGFR1	OMIM:615465
HP:0008736	Hypoplasia of penis	23767	FLRT3	ORPHA:478
HP:0008736	Hypoplasia of penis	79625	NDNF	ORPHA:478
HP:0008736	Hypoplasia of penis	79625	NDNF	OMIM:618841
HP:0008736	Hypoplasia of penis	2253	FGF8	ORPHA:478
HP:0008736	Hypoplasia of penis	2253	FGF8	ORPHA:432
HP:0008736	Hypoplasia of penis	2253	FGF8	OMIM:612702
HP:0008736	Hypoplasia of penis	1630	DCC	ORPHA:478
HP:0008736	Hypoplasia of penis	54756	IL17RD	ORPHA:478
HP:0008736	Hypoplasia of penis	6663	SOX10	ORPHA:478
HP:0008736	Hypoplasia of penis	60675	PROK2	ORPHA:478
HP:0008736	Hypoplasia of penis	60675	PROK2	ORPHA:432
HP:0008736	Hypoplasia of penis	60675	PROK2	OMIM:610628
HP:0008736	Hypoplasia of penis	8820	HESX1	ORPHA:478
HP:0008736	Hypoplasia of penis	10075	HUWE1	OMIM:309590
HP:0008736	Hypoplasia of penis	2737	GLI3	ORPHA:672
HP:0008736	Hypoplasia of penis	2737	GLI3	OMIM:146510
HP:0008736	Hypoplasia of penis	2074	ERCC6	OMIM:133540
HP:0008736	Hypoplasia of penis	6866	TAC3	ORPHA:432
HP:0008736	Hypoplasia of penis	3814	KISS1	ORPHA:432
HP:0008736	Hypoplasia of penis	10466	COG5	ORPHA:263487
HP:0008736	Hypoplasia of penis	56896	DPYSL5	OMIM:619435
HP:0008736	Hypoplasia of penis	2187	FANCB	OMIM:300514
HP:0008736	Hypoplasia of penis	100151683	RNU4ATAC	OMIM:210710
HP:0008736	Hypoplasia of penis	54585	LZTFL1	OMIM:615994
HP:0008736	Hypoplasia of penis	23314	SATB2	ORPHA:251028
HP:0008736	Hypoplasia of penis	8626	TP63	OMIM:604292
HP:0008736	Hypoplasia of penis	8626	TP63	OMIM:106260
HP:0008736	Hypoplasia of penis	7681	MKRN3	OMIM:176270
HP:0008736	Hypoplasia of penis	3653	IPW	OMIM:176270
HP:0008736	Hypoplasia of penis	54551	MAGEL2	OMIM:176270
HP:0008736	Hypoplasia of penis	54551	MAGEL2	ORPHA:398069
HP:0008736	Hypoplasia of penis	54551	MAGEL2	OMIM:615547
HP:0008736	Hypoplasia of penis	791114	PWRN1	OMIM:176270
HP:0008736	Hypoplasia of penis	100033413	SNORD116-1	OMIM:176270
HP:0008736	Hypoplasia of penis	8924	HERC2	OMIM:176270
HP:0008736	Hypoplasia of penis	145624	PWAR1	OMIM:176270
HP:0008736	Hypoplasia of penis	23742	NPAP1	OMIM:176270
HP:0008736	Hypoplasia of penis	338433	SNORD115-1	OMIM:176270
HP:0008736	Hypoplasia of penis	3981	LIG4	OMIM:606593
HP:0008736	Hypoplasia of penis	55593	OTUD5	OMIM:301056
HP:0008736	Hypoplasia of penis	55315	SLC29A3	OMIM:602782
HP:0008736	Hypoplasia of penis	55315	SLC29A3	ORPHA:168569
HP:0008736	Hypoplasia of penis	55869	HDAC8	OMIM:300882
HP:0008736	Hypoplasia of penis	117581	TWIST2	OMIM:200110
HP:0008736	Hypoplasia of penis	113179	ADAT3	ORPHA:363528
HP:0008736	Hypoplasia of penis	8882	ZPR1	OMIM:619321
HP:0008736	Hypoplasia of penis	84162	BLTP1	OMIM:617822
HP:0008736	Hypoplasia of penis	6492	SIM1	ORPHA:398079
HP:0008736	Hypoplasia of penis	55784	MCTP2	ORPHA:1596
HP:0008736	Hypoplasia of penis	1363	CPE	OMIM:619326
HP:0008736	Hypoplasia of penis	2068	ERCC2	OMIM:610756
HP:0008736	Hypoplasia of penis	29925	GMPPB	ORPHA:370968
HP:0008736	Hypoplasia of penis	79147	FKRP	ORPHA:370968
HP:0008736	Hypoplasia of penis	29954	POMT2	ORPHA:370968
HP:0008736	Hypoplasia of penis	29954	POMT2	OMIM:613156
HP:0008736	Hypoplasia of penis	9215	LARGE1	ORPHA:370968
HP:0008736	Hypoplasia of penis	10585	POMT1	ORPHA:370968
HP:0008736	Hypoplasia of penis	55777	MBD5	OMIM:156200
HP:0008736	Hypoplasia of penis	8925	HERC1	ORPHA:457359
HP:0008736	Hypoplasia of penis	51132	RLIM	OMIM:300978
HP:0008736	Hypoplasia of penis	4998	ORC1	OMIM:224690
HP:0008736	Hypoplasia of penis	7874	USP7	OMIM:616863
HP:0008736	Hypoplasia of penis	7874	USP7	ORPHA:500055
HP:0008736	Hypoplasia of penis	1108	CHD4	OMIM:617159
HP:0008736	Hypoplasia of penis	1000	CDH2	OMIM:618929
HP:0008736	Hypoplasia of penis	80311	KLHL15	OMIM:300982
HP:0008736	Hypoplasia of penis	10908	PNPLA6	OMIM:245800
HP:0008736	Hypoplasia of penis	1641	DCX	OMIM:300067
HP:0008736	Hypoplasia of penis	372	ARCN1	OMIM:617164
HP:0008736	Hypoplasia of penis	7317	UBA1	OMIM:301830
HP:0008736	Hypoplasia of penis	5277	PIGA	OMIM:300868
HP:0008736	Hypoplasia of penis	128637	TBC1D20	OMIM:615663
HP:0008736	Hypoplasia of penis	55210	ATAD3A	OMIM:618810
HP:0008736	Hypoplasia of penis	79633	FAT4	OMIM:615546
HP:0008736	Hypoplasia of penis	57187	THOC2	ORPHA:457240
HP:0008736	Hypoplasia of penis	4990	SIX6	OMIM:206900
HP:0008736	Hypoplasia of penis	6657	SOX2	OMIM:206900
HP:0008736	Hypoplasia of penis	23594	ORC6	OMIM:613803
HP:0008736	Hypoplasia of penis	990	CDC6	OMIM:613805
HP:0008736	Hypoplasia of penis	60	ACTB	OMIM:243310
HP:0008736	Hypoplasia of penis	26160	IFT172	OMIM:619471
HP:0008736	Hypoplasia of penis	9851	KIAA0753	OMIM:619479
HP:0008736	Hypoplasia of penis	2892	GRIA3	ORPHA:364028
HP:0008736	Hypoplasia of penis	348180	CTU2	OMIM:618142
HP:0008736	Hypoplasia of penis	340419	RSPO2	OMIM:618021
HP:0008736	Hypoplasia of penis	7737	RNF113A	OMIM:300953
HP:0008736	Hypoplasia of penis	6711	SPTBN1	OMIM:619475
HP:0008736	Hypoplasia of penis	22931	RAB18	OMIM:614222
HP:0008736	Hypoplasia of penis	95681	CEP41	OMIM:614464
HP:0008736	Hypoplasia of penis	29957	SLC25A24	OMIM:612289
HP:0008736	Hypoplasia of penis	4659	PPP1R12A	OMIM:618820
HP:0008736	Hypoplasia of penis	6608	SMO	OMIM:241800
HP:0008736	Hypoplasia of penis	80152	CENPT	OMIM:618702
HP:0008736	Hypoplasia of penis	80036	TRPM3	OMIM:620224
HP:0008736	Hypoplasia of penis	2132	EXT2	ORPHA:52022
HP:0008736	Hypoplasia of penis	60529	ALX4	ORPHA:52022
HP:0008736	Hypoplasia of penis	51317	PHF21A	ORPHA:52022
HP:0008736	Hypoplasia of penis	8567	MADD	OMIM:619004
HP:0008736	Hypoplasia of penis	8567	MADD	OMIM:619005
HP:0008736	Hypoplasia of penis	8318	CDC45	OMIM:617063
HP:0008736	Hypoplasia of penis	1857	DVL3	OMIM:616894
HP:0008736	Hypoplasia of penis	202018	TAPT1	OMIM:616897
HP:0008736	Hypoplasia of penis	745	MYRF	OMIM:618280
HP:0008736	Hypoplasia of penis	3284	HSD3B2	OMIM:201810
HP:0008736	Hypoplasia of penis	2177	FANCD2	OMIM:227646
HP:0008736	Hypoplasia of penis	84295	PHF6	OMIM:301900
HP:0008736	Hypoplasia of penis	4047	LSS	OMIM:618840
HP:0008736	Hypoplasia of penis	23247	KATNIP	OMIM:616784
HP:0008736	Hypoplasia of penis	7518	XRCC4	OMIM:616541
HP:0008736	Hypoplasia of penis	9786	KIAA0586	OMIM:616546
HP:0008736	Hypoplasia of penis	5718	PSMD12	OMIM:617516
HP:0008736	Hypoplasia of penis	1968	EIF2S3	ORPHA:85282
HP:0008736	Hypoplasia of penis	1968	EIF2S3	OMIM:300148
HP:0008736	Hypoplasia of penis	6261	RYR1	ORPHA:98905
HP:0008736	Hypoplasia of penis	7474	WNT5A	OMIM:180700
HP:0008736	Hypoplasia of penis	9562	MINPP1	ORPHA:284339
HP:0008736	Hypoplasia of penis	5087	PBX1	OMIM:617641
HP:0008736	Hypoplasia of penis	523	ATP6V1A	OMIM:617403
HP:0008736	Hypoplasia of penis	529	ATP6V1E1	OMIM:617402
HP:0008736	Hypoplasia of penis	8085	KMT2D	OMIM:147920
HP:0008736	Hypoplasia of penis	7403	KDM6A	OMIM:147920
HP:0008736	Hypoplasia of penis	92840	REEP6	ORPHA:791
HP:0008736	Hypoplasia of penis	6094	ROM1	ORPHA:791
HP:0008736	Hypoplasia of penis	6017	RLBP1	ORPHA:791
HP:0008736	Hypoplasia of penis	7401	CLRN1	ORPHA:791
HP:0008736	Hypoplasia of penis	24	ABCA4	ORPHA:791
HP:0008736	Hypoplasia of penis	130557	ZNF513	ORPHA:791
HP:0008736	Hypoplasia of penis	92211	CDHR1	ORPHA:791
HP:0008736	Hypoplasia of penis	23568	ARL2BP	ORPHA:791
HP:0008736	Hypoplasia of penis	6121	RPE65	ORPHA:791
HP:0008736	Hypoplasia of penis	54806	AHI1	ORPHA:791
HP:0008736	Hypoplasia of penis	6101	RP1	ORPHA:791
HP:0008736	Hypoplasia of penis	3419	IDH3A	ORPHA:791
HP:0008736	Hypoplasia of penis	4751	NEK2	ORPHA:791
HP:0008736	Hypoplasia of penis	346007	EYS	ORPHA:791
HP:0008736	Hypoplasia of penis	8100	IFT88	ORPHA:791
HP:0008736	Hypoplasia of penis	23020	SNRNP200	ORPHA:791
HP:0008736	Hypoplasia of penis	762	CA4	ORPHA:791
HP:0008736	Hypoplasia of penis	138050	HGSNAT	ORPHA:791
HP:0008736	Hypoplasia of penis	196	AHR	ORPHA:791
HP:0008736	Hypoplasia of penis	3614	IMPDH1	ORPHA:791
HP:0008736	Hypoplasia of penis	123016	TTC8	ORPHA:791
HP:0008736	Hypoplasia of penis	123016	TTC8	ORPHA:110
HP:0008736	Hypoplasia of penis	6103	RPGR	ORPHA:791
HP:0008736	Hypoplasia of penis	1406	CRX	ORPHA:791
HP:0008736	Hypoplasia of penis	5148	PDE6G	ORPHA:791
HP:0008736	Hypoplasia of penis	26121	PRPF31	ORPHA:791
HP:0008736	Hypoplasia of penis	583	BBS2	ORPHA:791
HP:0008736	Hypoplasia of penis	583	BBS2	ORPHA:110
HP:0008736	Hypoplasia of penis	4117	MAK	ORPHA:791
HP:0008736	Hypoplasia of penis	25794	FSCN2	ORPHA:791
HP:0008736	Hypoplasia of penis	375298	CERKL	ORPHA:791
HP:0008736	Hypoplasia of penis	3420	IDH3B	ORPHA:791
HP:0008736	Hypoplasia of penis	57670	KIAA1549	ORPHA:791
HP:0008736	Hypoplasia of penis	7275	TUB	ORPHA:791
HP:0008736	Hypoplasia of penis	24148	PRPF6	ORPHA:791
HP:0008736	Hypoplasia of penis	23418	CRB1	ORPHA:791
HP:0008736	Hypoplasia of penis	10461	MERTK	ORPHA:791
HP:0008736	Hypoplasia of penis	57709	SLC7A14	ORPHA:791
HP:0008736	Hypoplasia of penis	768206	PRCD	ORPHA:791
HP:0008736	Hypoplasia of penis	7399	USH2A	ORPHA:791
HP:0008736	Hypoplasia of penis	23370	ARHGEF18	ORPHA:791
HP:0008736	Hypoplasia of penis	5949	RBP3	ORPHA:791
HP:0008736	Hypoplasia of penis	6010	RHO	ORPHA:791
HP:0008736	Hypoplasia of penis	6100	RP9	ORPHA:791
HP:0008736	Hypoplasia of penis	10002	NR2E3	ORPHA:791
HP:0008736	Hypoplasia of penis	9227	LRAT	ORPHA:791
HP:0008736	Hypoplasia of penis	84140	FAM161A	ORPHA:791
HP:0008736	Hypoplasia of penis	55812	SPATA7	ORPHA:791
HP:0008736	Hypoplasia of penis	55624	POMGNT1	ORPHA:791
HP:0008736	Hypoplasia of penis	55624	POMGNT1	ORPHA:899
HP:0008736	Hypoplasia of penis	79797	ZNF408	ORPHA:791
HP:0008736	Hypoplasia of penis	403	ARL3	ORPHA:791
HP:0008736	Hypoplasia of penis	5145	PDE6A	ORPHA:791
HP:0008736	Hypoplasia of penis	10210	TOPORS	ORPHA:791
HP:0008736	Hypoplasia of penis	8842	PROM1	ORPHA:791
HP:0008736	Hypoplasia of penis	9128	PRPF4	ORPHA:791
HP:0008736	Hypoplasia of penis	145226	RDH12	ORPHA:791
HP:0008736	Hypoplasia of penis	50939	IMPG2	ORPHA:791
HP:0008736	Hypoplasia of penis	8481	OFD1	ORPHA:791
HP:0008736	Hypoplasia of penis	49855	SCAPER	ORPHA:791
HP:0008736	Hypoplasia of penis	49855	SCAPER	ORPHA:110
HP:0008736	Hypoplasia of penis	9742	IFT140	ORPHA:791
HP:0008736	Hypoplasia of penis	2979	GUCA1B	ORPHA:791
HP:0008736	Hypoplasia of penis	1259	CNGA1	ORPHA:791
HP:0008736	Hypoplasia of penis	1258	CNGB1	ORPHA:791
HP:0008736	Hypoplasia of penis	60509	AGBL5	ORPHA:791
HP:0008736	Hypoplasia of penis	5961	PRPH2	ORPHA:791
HP:0008736	Hypoplasia of penis	388939	PCARE	ORPHA:791
HP:0008736	Hypoplasia of penis	7439	BEST1	ORPHA:791
HP:0008736	Hypoplasia of penis	9785	DHX38	ORPHA:791
HP:0008736	Hypoplasia of penis	7287	TULP1	ORPHA:791
HP:0008736	Hypoplasia of penis	5995	RGR	ORPHA:791
HP:0008736	Hypoplasia of penis	9129	PRPF3	ORPHA:791
HP:0008736	Hypoplasia of penis	55975	KLHL7	ORPHA:791
HP:0008736	Hypoplasia of penis	3617	IMPG1	ORPHA:791
HP:0008736	Hypoplasia of penis	94137	RP1L1	ORPHA:791
HP:0008736	Hypoplasia of penis	5158	PDE6B	ORPHA:791
HP:0008736	Hypoplasia of penis	6102	RP2	ORPHA:791
HP:0008736	Hypoplasia of penis	55857	KIZ	ORPHA:791
HP:0008736	Hypoplasia of penis	64218	SEMA4A	ORPHA:791
HP:0008736	Hypoplasia of penis	4901	NRL	ORPHA:791
HP:0008736	Hypoplasia of penis	157657	CFAP418	ORPHA:791
HP:0008736	Hypoplasia of penis	157657	CFAP418	ORPHA:110
HP:0008736	Hypoplasia of penis	10594	PRPF8	ORPHA:791
HP:0008736	Hypoplasia of penis	6295	SAG	ORPHA:791
HP:0008736	Hypoplasia of penis	341640	FREM2	ORPHA:2052
HP:0008736	Hypoplasia of penis	23426	GRIP1	ORPHA:2052
HP:0008736	Hypoplasia of penis	23426	GRIP1	OMIM:617667
HP:0008736	Hypoplasia of penis	6309	SC5D	ORPHA:46059
HP:0008736	Hypoplasia of penis	55112	DYNC2I1	ORPHA:93271
HP:0008736	Hypoplasia of penis	57560	IFT80	ORPHA:93271
HP:0008736	Hypoplasia of penis	57539	WDR35	ORPHA:93271
HP:0008736	Hypoplasia of penis	89891	DYNC2I2	ORPHA:93271
HP:0008736	Hypoplasia of penis	129563	DIS3L2	ORPHA:2849
HP:0008736	Hypoplasia of penis	84892	POMGNT2	ORPHA:899
HP:0008736	Hypoplasia of penis	148789	B3GALNT2	ORPHA:899
HP:0008736	Hypoplasia of penis	1282	COL4A1	ORPHA:899
HP:0008736	Hypoplasia of penis	729920	CRPPA	ORPHA:899
HP:0008736	Hypoplasia of penis	10329	RXYLT1	ORPHA:899
HP:0008736	Hypoplasia of penis	1605	DAG1	ORPHA:899
HP:0008736	Hypoplasia of penis	84197	POMK	ORPHA:899
HP:0008736	Hypoplasia of penis	2218	FKTN	ORPHA:899
HP:0008736	Hypoplasia of penis	28514	DLL1	ORPHA:280200
HP:0008736	Hypoplasia of penis	6496	SIX3	ORPHA:280200
HP:0008736	Hypoplasia of penis	7050	TGIF1	ORPHA:280200
HP:0008736	Hypoplasia of penis	4838	NODAL	ORPHA:280200
HP:0008736	Hypoplasia of penis	6469	SHH	ORPHA:280200
HP:0008736	Hypoplasia of penis	51684	SUFU	ORPHA:280200
HP:0008736	Hypoplasia of penis	7546	ZIC2	ORPHA:280200
HP:0008736	Hypoplasia of penis	2619	GAS1	ORPHA:280200
HP:0008736	Hypoplasia of penis	84976	DISP1	ORPHA:280200
HP:0008736	Hypoplasia of penis	8928	FOXH1	ORPHA:280200
HP:0008736	Hypoplasia of penis	5727	PTCH1	ORPHA:280200
HP:0008736	Hypoplasia of penis	50937	CDON	ORPHA:280200
HP:0008736	Hypoplasia of penis	50937	CDON	ORPHA:95496
HP:0008736	Hypoplasia of penis	7259	TSPYL1	ORPHA:168593
HP:0008736	Hypoplasia of penis	64359	NXN	ORPHA:1507
HP:0008736	Hypoplasia of penis	3670	ISL1	ORPHA:93930
HP:0008736	Hypoplasia of penis	81620	CDT1	ORPHA:2554
HP:0008736	Hypoplasia of penis	5000	ORC4	ORPHA:2554
HP:0008736	Hypoplasia of penis	51053	GMNN	ORPHA:2554
HP:0008736	Hypoplasia of penis	23476	BRD4	ORPHA:199
HP:0008736	Hypoplasia of penis	9126	SMC3	ORPHA:199
HP:0008736	Hypoplasia of penis	8243	SMC1A	ORPHA:199
HP:0008736	Hypoplasia of penis	25836	NIPBL	ORPHA:199
HP:0008736	Hypoplasia of penis	5885	RAD21	ORPHA:199
HP:0008736	Hypoplasia of penis	92482	BBIP1	ORPHA:110
HP:0008736	Hypoplasia of penis	80184	CEP290	ORPHA:110
HP:0008736	Hypoplasia of penis	11020	IFT27	ORPHA:110
HP:0008736	Hypoplasia of penis	4867	NPHP1	ORPHA:110
HP:0008736	Hypoplasia of penis	51057	WDPCP	ORPHA:110
HP:0008736	Hypoplasia of penis	27241	BBS9	ORPHA:110
HP:0008736	Hypoplasia of penis	84984	CEP19	ORPHA:110
HP:0008736	Hypoplasia of penis	22954	TRIM32	ORPHA:110
HP:0008736	Hypoplasia of penis	54903	MKS1	ORPHA:110
HP:0008736	Hypoplasia of penis	79738	BBS10	ORPHA:110
HP:0008736	Hypoplasia of penis	585	BBS4	ORPHA:110
HP:0008736	Hypoplasia of penis	8195	MKKS	ORPHA:110
HP:0008736	Hypoplasia of penis	55212	BBS7	ORPHA:110
HP:0008736	Hypoplasia of penis	166379	BBS12	ORPHA:110
HP:0008736	Hypoplasia of penis	10806	SDCCAG8	ORPHA:110
HP:0008736	Hypoplasia of penis	80173	IFT74	ORPHA:110
HP:0008736	Hypoplasia of penis	5396	PRRX1	ORPHA:990
HP:0008736	Hypoplasia of penis	5048	PAFAH1B1	ORPHA:217385
HP:0008736	Hypoplasia of penis	7531	YWHAE	ORPHA:217385
HP:0008736	Hypoplasia of penis	6804	STX1A	ORPHA:904
HP:0008736	Hypoplasia of penis	7461	CLIP2	ORPHA:904
HP:0008736	Hypoplasia of penis	84277	DNAJC30	ORPHA:904
HP:0008736	Hypoplasia of penis	8468	FKBP6	ORPHA:904
HP:0008736	Hypoplasia of penis	5982	RFC2	ORPHA:904
HP:0008736	Hypoplasia of penis	2969	GTF2I	ORPHA:904
HP:0008736	Hypoplasia of penis	3984	LIMK1	ORPHA:904
HP:0008736	Hypoplasia of penis	9569	GTF2IRD1	ORPHA:904
HP:0008736	Hypoplasia of penis	155382	VPS37D	ORPHA:904
HP:0008736	Hypoplasia of penis	155368	METTL27	ORPHA:904
HP:0008736	Hypoplasia of penis	114049	BUD23	ORPHA:904
HP:0008736	Hypoplasia of penis	7458	EIF4H	ORPHA:904
HP:0008736	Hypoplasia of penis	84163	GTF2IRD2	ORPHA:904
HP:0008736	Hypoplasia of penis	9275	BCL7B	ORPHA:904
HP:0008736	Hypoplasia of penis	26608	TBL2	ORPHA:904
HP:0008736	Hypoplasia of penis	653361	NCF1	ORPHA:904
HP:0008736	Hypoplasia of penis	135886	TMEM270	ORPHA:904
HP:0008736	Hypoplasia of penis	9031	BAZ1B	ORPHA:904
HP:0008736	Hypoplasia of penis	5590	PRKCZ	ORPHA:1606
HP:0008736	Hypoplasia of penis	2563	GABRD	ORPHA:1606
HP:0008736	Hypoplasia of penis	23013	SPEN	ORPHA:1606
HP:0008736	Hypoplasia of penis	8510	MMP23B	ORPHA:1606
HP:0008736	Hypoplasia of penis	7798	LUZP1	ORPHA:1606
HP:0008736	Hypoplasia of penis	6497	SKI	ORPHA:1606
HP:0008736	Hypoplasia of penis	10630	PDPN	ORPHA:1606
HP:0008736	Hypoplasia of penis	3339	HSPG2	ORPHA:1606
HP:0008736	Hypoplasia of penis	10277	UBE4B	ORPHA:1606
HP:0008736	Hypoplasia of penis	8514	KCNAB2	ORPHA:1606
HP:0008736	Hypoplasia of penis	473	RERE	ORPHA:1606
HP:0008736	Hypoplasia of penis	63976	PRDM16	ORPHA:1606
HP:0008736	Hypoplasia of penis	54897	CASZ1	ORPHA:1606
HP:0008736	Hypoplasia of penis	286	ANK1	ORPHA:251066
HP:0008736	Hypoplasia of penis	89884	LHX4	ORPHA:95496
HP:0008736	Hypoplasia of penis	6091	ROBO1	ORPHA:95496
HP:0008736	Hypoplasia of penis	23432	GPR161	ORPHA:95496
HP:0008736	Hypoplasia of penis	84172	POLR1B	ORPHA:861
HP:0008736	Hypoplasia of penis	9533	POLR1C	ORPHA:861
HP:0008736	Hypoplasia of penis	51082	POLR1D	ORPHA:861
HP:0008736	Hypoplasia of penis	6949	TCOF1	ORPHA:861
HP:0008736	Hypoplasia of penis	3110	MNX1	ORPHA:1552
HP:0008736	Hypoplasia of penis	6299	SALL1	ORPHA:857
HP:0008736	Hypoplasia of penis	51339	DACT1	ORPHA:857
HP:0008736	Hypoplasia of penis	2239	GPC4	ORPHA:373
HP:0008736	Hypoplasia of penis	2719	GPC3	ORPHA:373
HP:0008736	Hypoplasia of penis	7476	WNT7A	ORPHA:2879
HP:0008736	Hypoplasia of penis	131118	DNAJC19	ORPHA:66634
HP:0008736	Hypoplasia of penis	4621	MYH3	ORPHA:2990
HP:0008736	Hypoplasia of penis	1146	CHRNG	ORPHA:2990
HP:0008736	Hypoplasia of penis	22930	RAB3GAP1	ORPHA:2510
HP:0008736	Hypoplasia of penis	3239	HOXD13	ORPHA:887
HP:0008736	Hypoplasia of penis	64324	NSD1	ORPHA:3447
HP:0008736	Hypoplasia of penis	8726	EED	ORPHA:3447
HP:0008736	Hypoplasia of penis	23512	SUZ12	ORPHA:3447
HP:0008736	Hypoplasia of penis	2146	EZH2	ORPHA:3447
HP:0008736	Hypoplasia of penis	9897	WASHC5	ORPHA:7
HP:0008736	Hypoplasia of penis	28952	CCDC22	ORPHA:7
HP:0008736	Hypoplasia of penis	6658	SOX3	ORPHA:3157
HP:0008736	Hypoplasia of penis	9915	ARNT2	ORPHA:3157
HP:0008736	Hypoplasia of penis	2690	GHR	ORPHA:633
HP:0008736	Hypoplasia of penis	2188	FANCF	OMIM:603467
HP:0008736	Hypoplasia of penis	25942	SIN3A	ORPHA:94065
HP:0008736	Hypoplasia of penis	25942	SIN3A	OMIM:613406
HP:0008736	Hypoplasia of penis	8295	TRRAP	OMIM:618454
HP:0008736	Hypoplasia of penis	54809	SAMD9	OMIM:617053
HP:0008736	Hypoplasia of penis	3481	IGF2	ORPHA:397590
HP:0008736	Hypoplasia of penis	5324	PLAG1	ORPHA:397590
HP:0008736	Hypoplasia of penis	8091	HMGA2	ORPHA:397590
HP:0008736	Hypoplasia of penis	22858	CILK1	OMIM:612651
HP:0008736	Hypoplasia of penis	25914	RTTN	ORPHA:468631
HP:0008633	Agonadism	10293	TRAIP	OMIM:616777
HP:0008633	Agonadism	57647	DHX37	ORPHA:983
HP:0000123	Nephritis	7840	ALMS1	ORPHA:64
HP:0000123	Nephritis	9056	SLC7A7	ORPHA:470
HP:0000123	Nephritis	355	FAS	ORPHA:3261
HP:0000123	Nephritis	356	FASLG	ORPHA:3261
HP:0000123	Nephritis	5580	PRKCD	ORPHA:3261
HP:0000123	Nephritis	843	CASP10	ORPHA:3261
HP:0000123	Nephritis	10125	RASGRP1	ORPHA:3261
HP:0000123	Nephritis	720	C4A	OMIM:614380
HP:0000123	Nephritis	8651	SOCS1	OMIM:619375
HP:0000123	Nephritis	975	CD81	OMIM:613496
HP:0000123	Nephritis	3426	CFI	OMIM:610984
HP:0000123	Nephritis	1285	COL4A3	OMIM:104200
HP:0000123	Nephritis	50943	FOXP3	OMIM:304790
HP:0000123	Nephritis	81494	CFHR5	OMIM:614809
HP:0000123	Nephritis	4010	LMX1B	OMIM:161200
HP:0000123	Nephritis	4312	MMP1	ORPHA:79408
HP:0000123	Nephritis	1294	COL7A1	ORPHA:79408
HP:0000123	Nephritis	4311	MME	ORPHA:69063
HP:0000123	Nephritis	57728	WDR19	OMIM:614376
HP:0000123	Nephritis	81603	TRIM8	OMIM:619428
HP:0000123	Nephritis	7369	UMOD	OMIM:162000
HP:0000123	Nephritis	4613	MYCN	ORPHA:391641
HP:0000123	Nephritis	1286	COL4A4	OMIM:203780
HP:0000123	Nephritis	6775	STAT4	ORPHA:93552
HP:0000123	Nephritis	6696	SPP1	ORPHA:93552
HP:0000123	Nephritis	3654	IRAK1	ORPHA:93552
HP:0000123	Nephritis	3162	HMOX1	OMIM:614034
HP:0000123	Nephritis	65082	VPS33A	OMIM:617303
HP:0000123	Nephritis	5340	PLG	OMIM:217090
HP:0000123	Nephritis	4627	MYH9	ORPHA:182050
HP:0000123	Nephritis	1287	COL4A5	OMIM:301050
HP:0000123	Nephritis	977	CD151	OMIM:609057
HP:0000123	Nephritis	54345	SOX18	OMIM:137940
HP:0000123	Nephritis	57169	ZNFX1	OMIM:619644
HP:0000123	Nephritis	84823	LMNB2	OMIM:608709
HP:0000123	Nephritis	1777	DNASE2	OMIM:619858
HP:0000123	Nephritis	712	C1QA	OMIM:613652
HP:0000123	Nephritis	5238	PGM3	ORPHA:443811
HP:0000123	Nephritis	5238	PGM3	OMIM:615816
HP:0000123	Nephritis	2542	SLC37A4	OMIM:619525
HP:0000123	Nephritis	8526	DGKE	OMIM:615008
HP:0000123	Nephritis	718	C3	OMIM:613779
HP:0000123	Nephritis	1314	COPA	OMIM:616414
HP:0000123	Nephritis	9968	MED12	OMIM:301068
HP:0000123	Nephritis	51726	DNAJB11	ORPHA:730
HP:0000123	Nephritis	23193	GANAB	ORPHA:730
HP:0000123	Nephritis	5310	PKD1	ORPHA:730
HP:0000123	Nephritis	5311	PKD2	ORPHA:730
HP:0000123	Nephritis	29880	ALG5	ORPHA:730
HP:0000123	Nephritis	9742	IFT140	ORPHA:730
HP:0000123	Nephritis	79796	ALG9	ORPHA:730
HP:0000123	Nephritis	80114	BICC1	ORPHA:730
HP:0000123	Nephritis	284252	KCTD1	OMIM:181270
HP:0000123	Nephritis	284252	KCTD1	ORPHA:2036
HP:0000123	Nephritis	4629	MYH11	OMIM:619351
HP:0000123	Nephritis	7498	XDH	OMIM:278300
HP:0000123	Nephritis	2006	ELN	ORPHA:90348
HP:0000123	Nephritis	10516	FBLN5	ORPHA:90348
HP:0000123	Nephritis	10516	FBLN5	ORPHA:90349
HP:0000123	Nephritis	5832	ALDH18A1	ORPHA:90348
HP:0000123	Nephritis	4052	LTBP1	ORPHA:90349
HP:0000123	Nephritis	30008	EFEMP2	ORPHA:90349
HP:0000123	Nephritis	3209	HOXA13	OMIM:140000
HP:0000123	Nephritis	54796	BNC2	ORPHA:93110
HP:0000123	Nephritis	3716	JAK1	OMIM:618999
HP:0000123	Nephritis	55243	KIRREL1	OMIM:619201
HP:0000123	Nephritis	8270	LAGE3	OMIM:301006
HP:0000123	Nephritis	25959	KANK2	OMIM:617783
HP:0000123	Nephritis	5800	PTPRO	OMIM:614196
HP:0000123	Nephritis	5800	PTPRO	ORPHA:656
HP:0000123	Nephritis	50485	SMARCAL1	ORPHA:1830
HP:0000123	Nephritis	2013	EMP2	OMIM:615861
HP:0000123	Nephritis	2013	EMP2	ORPHA:656
HP:0000123	Nephritis	7535	ZAP70	OMIM:617006
HP:0000123	Nephritis	57122	NUP107	OMIM:616730
HP:0000123	Nephritis	57122	NUP107	OMIM:618348
HP:0000123	Nephritis	57122	NUP107	ORPHA:656
HP:0000123	Nephritis	9863	MAGI2	OMIM:617609
HP:0000123	Nephritis	9863	MAGI2	ORPHA:656
HP:0000123	Nephritis	4868	NPHS1	ORPHA:656
HP:0000123	Nephritis	23607	CD2AP	ORPHA:656
HP:0000123	Nephritis	9688	NUP93	ORPHA:656
HP:0000123	Nephritis	4643	MYO1E	ORPHA:656
HP:0000123	Nephritis	64423	INF2	ORPHA:656
HP:0000123	Nephritis	26130	GAPVD1	ORPHA:656
HP:0000123	Nephritis	7490	WT1	ORPHA:656
HP:0000123	Nephritis	51479	ANKFY1	ORPHA:656
HP:0000123	Nephritis	54443	ANLN	ORPHA:656
HP:0000123	Nephritis	286204	CRB2	ORPHA:656
HP:0000123	Nephritis	23165	NUP205	ORPHA:656
HP:0000123	Nephritis	79023	NUP37	ORPHA:656
HP:0000123	Nephritis	51196	PLCE1	ORPHA:656
HP:0000123	Nephritis	79902	NUP85	ORPHA:656
HP:0000123	Nephritis	396	ARHGDIA	ORPHA:656
HP:0000123	Nephritis	79934	COQ8B	ORPHA:656
HP:0000123	Nephritis	23279	NUP160	ORPHA:656
HP:0000123	Nephritis	81	ACTN4	ORPHA:656
HP:0000123	Nephritis	7225	TRPC6	ORPHA:656
HP:0000123	Nephritis	8542	APOL1	ORPHA:656
HP:0000123	Nephritis	54885	TBC1D8B	ORPHA:656
HP:0000123	Nephritis	7827	NPHS2	ORPHA:656
HP:0000123	Nephritis	83478	ARHGAP24	ORPHA:656
HP:0000123	Nephritis	23500	DAAM2	ORPHA:656
HP:0000123	Nephritis	5076	PAX2	ORPHA:656
HP:0000123	Nephritis	55746	NUP133	ORPHA:656
HP:0000123	Nephritis	85358	SHANK3	ORPHA:48652
HP:0000123	Nephritis	2212	FCGR2A	OMIM:152700
HP:0000123	Nephritis	2213	FCGR2B	OMIM:152700
HP:0000123	Nephritis	26191	PTPN22	OMIM:152700
HP:0000123	Nephritis	11277	TREX1	OMIM:152700
HP:0000123	Nephritis	1493	CTLA4	OMIM:152700
HP:0000123	Nephritis	1773	DNASE1	OMIM:152700
HP:0000123	Nephritis	1776	DNASE1L3	OMIM:614420
HP:0001470	Sex-limited expression	344018	FIGLA	OMIM:612310
HP:0001470	Sex-limited expression	3973	LHCGR	OMIM:176410
HP:0001470	Sex-limited expression	2516	NR5A1	OMIM:612964
HP:0001470	Sex-limited expression	2516	NR5A1	OMIM:612965
HP:0001470	Sex-limited expression	79983	POF1B	OMIM:300604
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	22954	TRIM32	OMIM:254110
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	7415	VCP	OMIM:167320
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	6443	SGCB	OMIM:604286
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	4000	LMNA	ORPHA:98856
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	203859	ANO5	ORPHA:206549
HP:0001473	Metatarsal osteolysis	9935	MAFB	OMIM:166300
HP:0001473	Metatarsal osteolysis	4313	MMP2	OMIM:259600
HP:0001474	Sclerotic scapulae	23592	LEMD3	ORPHA:166119
HP:0001474	Sclerotic scapulae	50964	SOST	OMIM:269500
HP:0001476	Delayed closure of the anterior fontanelle	139285	AMER1	OMIM:300373
HP:0001476	Delayed closure of the anterior fontanelle	6197	RPS6KA3	OMIM:303600
HP:0001476	Delayed closure of the anterior fontanelle	443	ASPA	OMIM:271900
HP:0001476	Delayed closure of the anterior fontanelle	6905	TBCE	OMIM:244460
HP:0001476	Delayed closure of the anterior fontanelle	9759	HDAC4	OMIM:619797
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	ORPHA:2834
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	OMIM:278250
HP:0001476	Delayed closure of the anterior fontanelle	523	ATP6V1A	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	529	ATP6V1E1	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	54892	NCAPG2	OMIM:618460
HP:0001476	Delayed closure of the anterior fontanelle	84168	ANTXR1	OMIM:230740
HP:0001476	Delayed closure of the anterior fontanelle	8815	BANF1	OMIM:614008
HP:0001476	Delayed closure of the anterior fontanelle	5824	PEX19	OMIM:614886
HP:0001476	Delayed closure of the anterior fontanelle	5195	PEX14	OMIM:614887
HP:0001476	Delayed closure of the anterior fontanelle	63901	FAM111A	OMIM:127000
HP:0001476	Delayed closure of the anterior fontanelle	11128	POLR3A	OMIM:264090
HP:0001476	Delayed closure of the anterior fontanelle	4313	MMP2	OMIM:259600
HP:0001476	Delayed closure of the anterior fontanelle	2887	GRB10	ORPHA:96182
HP:0001476	Delayed closure of the anterior fontanelle	3481	IGF2	ORPHA:231140
HP:0001476	Delayed closure of the anterior fontanelle	283120	H19	ORPHA:231140
HP:0001476	Delayed closure of the anterior fontanelle	10484	SEC23A	OMIM:607812
HP:0001476	Delayed closure of the anterior fontanelle	1277	COL1A1	OMIM:130060
HP:0001476	Delayed closure of the anterior fontanelle	9509	ADAMTS2	OMIM:225410
HP:0001476	Delayed closure of the anterior fontanelle	7545	ZIC1	OMIM:618736
HP:0001476	Delayed closure of the anterior fontanelle	114548	NLRP3	ORPHA:1451
HP:0001476	Delayed closure of the anterior fontanelle	2316	FLNA	OMIM:311300
HP:0001476	Delayed closure of the anterior fontanelle	2316	FLNA	OMIM:304120
HP:0001476	Delayed closure of the anterior fontanelle	9968	MED12	OMIM:305450
HP:0001476	Delayed closure of the anterior fontanelle	9126	SMC3	OMIM:610759
HP:0001476	Delayed closure of the anterior fontanelle	1513	CTSK	ORPHA:763
HP:0001476	Delayed closure of the anterior fontanelle	1513	CTSK	OMIM:265800
HP:0001476	Delayed closure of the anterior fontanelle	5828	PEX2	OMIM:614866
HP:0001476	Delayed closure of the anterior fontanelle	29123	ANKRD11	ORPHA:2332
HP:0001476	Delayed closure of the anterior fontanelle	860	RUNX2	OMIM:119600
HP:0001476	Delayed closure of the anterior fontanelle	2688	GH1	OMIM:262400
HP:0001476	Delayed closure of the anterior fontanelle	538	ATP7A	OMIM:304150
HP:0001476	Delayed closure of the anterior fontanelle	29940	DSE	OMIM:615539
HP:0001477	Compensatory chin elevation	55605	KIF21A	OMIM:135700
HP:0001477	Compensatory chin elevation	84570	COL25A1	ORPHA:91411
HP:0001477	Compensatory chin elevation	79776	ZFHX4	ORPHA:91411
HP:0001477	Compensatory chin elevation	10381	TUBB3	OMIM:600638
HP:0011695	Cerebellar hemorrhage	351	APP	OMIM:605714
HP:0011695	Cerebellar hemorrhage	3712	IVD	OMIM:243500
HP:0011695	Cerebellar hemorrhage	28976	ACAD9	ORPHA:99901
HP:0011695	Cerebellar hemorrhage	4594	MMUT	OMIM:251000
HP:0011695	Cerebellar hemorrhage	5095	PCCA	OMIM:606054
HP:0011695	Cerebellar hemorrhage	5096	PCCB	OMIM:606054
HP:0011699	Atrial reentry tachycardia	4838	NODAL	OMIM:270100
HP:0008639	Gonadal hypoplasia	2074	ERCC6	OMIM:278800
HP:0000100	Nephrotic syndrome	9722	NOS1AP	OMIM:619155
HP:0000100	Nephrotic syndrome	4010	LMX1B	ORPHA:2614
HP:0000100	Nephrotic syndrome	4010	LMX1B	OMIM:161200
HP:0000100	Nephrotic syndrome	10785	WDR4	OMIM:618347
HP:0000100	Nephrotic syndrome	10785	WDR4	ORPHA:2065
HP:0000100	Nephrotic syndrome	57122	NUP107	OMIM:618348
HP:0000100	Nephrotic syndrome	57122	NUP107	OMIM:616730
HP:0000100	Nephrotic syndrome	57122	NUP107	ORPHA:2065
HP:0000100	Nephrotic syndrome	55746	NUP133	OMIM:618349
HP:0000100	Nephrotic syndrome	55746	NUP133	ORPHA:2065
HP:0000100	Nephrotic syndrome	6775	STAT4	ORPHA:93552
HP:0000100	Nephrotic syndrome	6696	SPP1	ORPHA:93552
HP:0000100	Nephrotic syndrome	3654	IRAK1	ORPHA:93552
HP:0000100	Nephrotic syndrome	84942	WDR73	OMIM:251300
HP:0000100	Nephrotic syndrome	84942	WDR73	ORPHA:83472
HP:0000100	Nephrotic syndrome	84942	WDR73	ORPHA:2065
HP:0000100	Nephrotic syndrome	4311	MME	ORPHA:69063
HP:0000100	Nephrotic syndrome	4210	MEFV	OMIM:249100
HP:0000100	Nephrotic syndrome	4210	MEFV	ORPHA:342
HP:0000100	Nephrotic syndrome	396	ARHGDIA	OMIM:615244
HP:0000100	Nephrotic syndrome	25959	KANK2	OMIM:617783
HP:0000100	Nephrotic syndrome	9342	SNAP29	ORPHA:66631
HP:0000100	Nephrotic syndrome	65082	VPS33A	OMIM:617303
HP:0000100	Nephrotic syndrome	65082	VPS33A	ORPHA:505248
HP:0000100	Nephrotic syndrome	843	CASP10	OMIM:603909
HP:0000100	Nephrotic syndrome	9640	ZNF592	ORPHA:83472
HP:0000100	Nephrotic syndrome	3716	JAK1	OMIM:618999
HP:0000100	Nephrotic syndrome	8526	DGKE	OMIM:615008
HP:0000100	Nephrotic syndrome	1287	COL4A5	OMIM:301050
HP:0000100	Nephrotic syndrome	114548	NLRP3	ORPHA:575
HP:0000100	Nephrotic syndrome	7827	NPHS2	OMIM:600995
HP:0000100	Nephrotic syndrome	27235	COQ2	OMIM:607426
HP:0000100	Nephrotic syndrome	27235	COQ2	ORPHA:255249
HP:0000100	Nephrotic syndrome	5921	RASA1	ORPHA:90307
HP:0000100	Nephrotic syndrome	3911	LAMA5	OMIM:620049
HP:0000100	Nephrotic syndrome	708	C1QBP	OMIM:617713
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:256370
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:194080
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:136680
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:251510
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:347
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:220
HP:0000100	Nephrotic syndrome	3913	LAMB2	OMIM:609049
HP:0000100	Nephrotic syndrome	3913	LAMB2	OMIM:614199
HP:0000100	Nephrotic syndrome	2717	GLA	ORPHA:324
HP:0000100	Nephrotic syndrome	83480	PUS3	ORPHA:488627
HP:0000100	Nephrotic syndrome	79415	CYBC1	OMIM:618935
HP:0000100	Nephrotic syndrome	4868	NPHS1	ORPHA:839
HP:0000100	Nephrotic syndrome	6662	SOX9	ORPHA:251510
HP:0000100	Nephrotic syndrome	6845	VAMP7	ORPHA:251510
HP:0000100	Nephrotic syndrome	51741	WWOX	ORPHA:251510
HP:0000100	Nephrotic syndrome	4214	MAP3K1	ORPHA:251510
HP:0000100	Nephrotic syndrome	2516	NR5A1	ORPHA:251510
HP:0000100	Nephrotic syndrome	58524	DMRT3	ORPHA:251510
HP:0000100	Nephrotic syndrome	57647	DHX37	ORPHA:251510
HP:0000100	Nephrotic syndrome	6736	SRY	ORPHA:251510
HP:0000100	Nephrotic syndrome	23414	ZFPM2	ORPHA:251510
HP:0000100	Nephrotic syndrome	190	NR0B1	ORPHA:251510
HP:0000100	Nephrotic syndrome	2626	GATA4	ORPHA:251510
HP:0000100	Nephrotic syndrome	950	SCARB2	OMIM:254900
HP:0000100	Nephrotic syndrome	55644	OSGEP	OMIM:617729
HP:0000100	Nephrotic syndrome	55644	OSGEP	ORPHA:2065
HP:0000100	Nephrotic syndrome	5373	PMM2	OMIM:212065
HP:0000100	Nephrotic syndrome	5373	PMM2	ORPHA:79318
HP:0000100	Nephrotic syndrome	4069	LYZ	OMIM:105200
HP:0000100	Nephrotic syndrome	2243	FGA	OMIM:105200
HP:0000100	Nephrotic syndrome	335	APOA1	OMIM:105200
HP:0000100	Nephrotic syndrome	567	B2M	OMIM:105200
HP:0000100	Nephrotic syndrome	7225	TRPC6	OMIM:603965
HP:0000100	Nephrotic syndrome	92482	BBIP1	ORPHA:110
HP:0000100	Nephrotic syndrome	80184	CEP290	ORPHA:110
HP:0000100	Nephrotic syndrome	11020	IFT27	ORPHA:110
HP:0000100	Nephrotic syndrome	582	BBS1	ORPHA:110
HP:0000100	Nephrotic syndrome	49855	SCAPER	ORPHA:110
HP:0000100	Nephrotic syndrome	4867	NPHP1	ORPHA:110
HP:0000100	Nephrotic syndrome	51057	WDPCP	ORPHA:110
HP:0000100	Nephrotic syndrome	27241	BBS9	ORPHA:110
HP:0000100	Nephrotic syndrome	84984	CEP19	ORPHA:110
HP:0000100	Nephrotic syndrome	22954	TRIM32	ORPHA:110
HP:0000100	Nephrotic syndrome	54903	MKS1	ORPHA:110
HP:0000100	Nephrotic syndrome	79738	BBS10	ORPHA:110
HP:0000100	Nephrotic syndrome	123016	TTC8	ORPHA:110
HP:0000100	Nephrotic syndrome	26160	IFT172	ORPHA:110
HP:0000100	Nephrotic syndrome	583	BBS2	ORPHA:110
HP:0000100	Nephrotic syndrome	585	BBS4	ORPHA:110
HP:0000100	Nephrotic syndrome	8195	MKKS	ORPHA:110
HP:0000100	Nephrotic syndrome	54585	LZTFL1	ORPHA:110
HP:0000100	Nephrotic syndrome	55212	BBS7	ORPHA:110
HP:0000100	Nephrotic syndrome	166379	BBS12	ORPHA:110
HP:0000100	Nephrotic syndrome	10806	SDCCAG8	ORPHA:110
HP:0000100	Nephrotic syndrome	157657	CFAP418	ORPHA:110
HP:0000100	Nephrotic syndrome	84100	ARL6	ORPHA:110
HP:0000100	Nephrotic syndrome	129880	BBS5	ORPHA:110
HP:0000100	Nephrotic syndrome	80173	IFT74	ORPHA:110
HP:0000100	Nephrotic syndrome	595	CCND1	ORPHA:29073
HP:0000100	Nephrotic syndrome	112858	TP53RK	OMIM:617730
HP:0000100	Nephrotic syndrome	112858	TP53RK	ORPHA:2065
HP:0000100	Nephrotic syndrome	8879	SGPL1	OMIM:617575
HP:0000100	Nephrotic syndrome	8270	LAGE3	OMIM:301006
HP:0000100	Nephrotic syndrome	8270	LAGE3	ORPHA:2065
HP:0000100	Nephrotic syndrome	5076	PAX2	OMIM:616002
HP:0000100	Nephrotic syndrome	1285	COL4A3	OMIM:203780
HP:0000100	Nephrotic syndrome	1285	COL4A3	OMIM:104200
HP:0000100	Nephrotic syndrome	1286	COL4A4	OMIM:203780
HP:0000100	Nephrotic syndrome	5580	PRKCD	OMIM:615559
HP:0000100	Nephrotic syndrome	5265	SERPINA1	ORPHA:60
HP:0000100	Nephrotic syndrome	718	C3	OMIM:613779
HP:0000100	Nephrotic syndrome	6023	RMRP	ORPHA:39041
HP:0000100	Nephrotic syndrome	55636	CHD7	ORPHA:39041
HP:0000100	Nephrotic syndrome	3981	LIG4	ORPHA:39041
HP:0000100	Nephrotic syndrome	5896	RAG1	ORPHA:39041
HP:0000100	Nephrotic syndrome	5897	RAG2	ORPHA:39041
HP:0000100	Nephrotic syndrome	64421	DCLRE1C	ORPHA:39041
HP:0000100	Nephrotic syndrome	100	ADA	ORPHA:39041
HP:0000100	Nephrotic syndrome	3575	IL7R	ORPHA:39041
HP:0000100	Nephrotic syndrome	3561	IL2RG	ORPHA:39041
HP:0000100	Nephrotic syndrome	2335	FN1	ORPHA:84090
HP:0000100	Nephrotic syndrome	2335	FN1	OMIM:601894
HP:0000100	Nephrotic syndrome	3675	ITGA3	OMIM:614748
HP:0000100	Nephrotic syndrome	56052	ALG1	ORPHA:79327
HP:0000100	Nephrotic syndrome	113189	CHST14	OMIM:601776
HP:0000100	Nephrotic syndrome	57169	ZNFX1	OMIM:619644
HP:0000100	Nephrotic syndrome	5800	PTPRO	OMIM:614196
HP:0000100	Nephrotic syndrome	6288	SAA1	ORPHA:85445
HP:0000100	Nephrotic syndrome	2625	GATA3	OMIM:146255
HP:0000100	Nephrotic syndrome	64135	IFIH1	OMIM:615846
HP:0000100	Nephrotic syndrome	50485	SMARCAL1	OMIM:242900
HP:0000100	Nephrotic syndrome	57107	PDSS2	ORPHA:255249
HP:0000100	Nephrotic syndrome	57107	PDSS2	OMIM:614652
HP:0000100	Nephrotic syndrome	4141	MARS1	ORPHA:401835
HP:0000100	Nephrotic syndrome	26503	SLC17A5	OMIM:269920
HP:0000100	Nephrotic syndrome	50943	FOXP3	ORPHA:37042
HP:0000100	Nephrotic syndrome	51196	PLCE1	OMIM:610725
HP:0000100	Nephrotic syndrome	54443	ANLN	OMIM:616032
HP:0000100	Nephrotic syndrome	4643	MYO1E	OMIM:614131
HP:0000100	Nephrotic syndrome	84823	LMNB2	OMIM:608709
HP:0000100	Nephrotic syndrome	2013	EMP2	OMIM:615861
HP:0000100	Nephrotic syndrome	7535	ZAP70	OMIM:617006
HP:0000100	Nephrotic syndrome	7535	ZAP70	ORPHA:911
HP:0000100	Nephrotic syndrome	51002	TPRKB	ORPHA:2065
HP:0000100	Nephrotic syndrome	81603	TRIM8	OMIM:619428
HP:0000100	Nephrotic syndrome	2934	GSN	OMIM:105120
HP:0000100	Nephrotic syndrome	7355	SLC35A2	ORPHA:356961
HP:0000100	Nephrotic syndrome	55243	KIRREL1	OMIM:619201
HP:0000100	Nephrotic syndrome	23279	NUP160	OMIM:618178
HP:0000100	Nephrotic syndrome	79934	COQ8B	OMIM:615573
HP:0000100	Nephrotic syndrome	23500	DAAM2	OMIM:619263
HP:0000100	Nephrotic syndrome	23165	NUP205	OMIM:616893
HP:0000100	Nephrotic syndrome	54885	TBC1D8B	OMIM:301028
HP:0000100	Nephrotic syndrome	51004	COQ6	OMIM:614650
HP:0000100	Nephrotic syndrome	9688	NUP93	OMIM:616892
HP:0000100	Nephrotic syndrome	79902	NUP85	OMIM:618176
HP:0000100	Nephrotic syndrome	10677	AVIL	OMIM:618594
HP:0000100	Nephrotic syndrome	286204	CRB2	OMIM:616220
HP:0000100	Nephrotic syndrome	9863	MAGI2	OMIM:617609
HP:0000100	Nephrotic syndrome	340533	NEXMIF	OMIM:300912
HP:0008635	Hypertrophy of the urinary bladder	23556	PIGN	ORPHA:280633
HP:0008640	Congenital macroorchidism	2332	FMR1	OMIM:300624
HP:0000089	Renal hypoplasia	5290	PIK3CA	OMIM:612918
HP:0000089	Renal hypoplasia	5076	PAX2	ORPHA:97362
HP:0000089	Renal hypoplasia	5076	PAX2	ORPHA:1475
HP:0000089	Renal hypoplasia	5076	PAX2	OMIM:616002
HP:0000089	Renal hypoplasia	5076	PAX2	OMIM:120330
HP:0000089	Renal hypoplasia	5087	PBX1	ORPHA:97362
HP:0000089	Renal hypoplasia	5087	PBX1	OMIM:617641
HP:0000089	Renal hypoplasia	341640	FREM2	ORPHA:2052
HP:0000089	Renal hypoplasia	341640	FREM2	OMIM:617666
HP:0000089	Renal hypoplasia	80144	FRAS1	ORPHA:2052
HP:0000089	Renal hypoplasia	80144	FRAS1	OMIM:219000
HP:0000089	Renal hypoplasia	23426	GRIP1	ORPHA:2052
HP:0000089	Renal hypoplasia	54892	NCAPG2	OMIM:618460
HP:0000089	Renal hypoplasia	11020	IFT27	OMIM:615996
HP:0000089	Renal hypoplasia	1161	ERCC8	ORPHA:90324
HP:0000089	Renal hypoplasia	2074	ERCC6	ORPHA:90324
HP:0000089	Renal hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0000089	Renal hypoplasia	4774	NFIA	OMIM:613735
HP:0000089	Renal hypoplasia	57167	SALL4	OMIM:607323
HP:0000089	Renal hypoplasia	4838	NODAL	OMIM:270100
HP:0000089	Renal hypoplasia	64220	STRA6	OMIM:601186
HP:0000089	Renal hypoplasia	64220	STRA6	ORPHA:2470
HP:0000089	Renal hypoplasia	6299	SALL1	OMIM:107480
HP:0000089	Renal hypoplasia	6299	SALL1	ORPHA:857
HP:0000089	Renal hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0000089	Renal hypoplasia	57560	IFT80	ORPHA:93271
HP:0000089	Renal hypoplasia	57539	WDR35	ORPHA:93271
HP:0000089	Renal hypoplasia	57539	WDR35	OMIM:614091
HP:0000089	Renal hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0000089	Renal hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0000089	Renal hypoplasia	23498	HAAO	OMIM:617660
HP:0000089	Renal hypoplasia	55159	RFWD3	OMIM:617784
HP:0000089	Renal hypoplasia	8942	KYNU	OMIM:617661
HP:0000089	Renal hypoplasia	8882	ZPR1	OMIM:619321
HP:0000089	Renal hypoplasia	3313	HSPA9	OMIM:616854
HP:0000089	Renal hypoplasia	55215	FANCI	OMIM:609053
HP:0000089	Renal hypoplasia	23291	FBXW11	OMIM:618914
HP:0000089	Renal hypoplasia	6092	ROBO2	OMIM:610878
HP:0000089	Renal hypoplasia	6926	TBX3	ORPHA:3138
HP:0000089	Renal hypoplasia	2188	FANCF	OMIM:603467
HP:0000089	Renal hypoplasia	84987	COX14	OMIM:619053
HP:0000089	Renal hypoplasia	57492	ARID1B	OMIM:135900
HP:0000089	Renal hypoplasia	3899	AFF3	OMIM:619297
HP:0000089	Renal hypoplasia	54496	PRMT7	OMIM:617157
HP:0000089	Renal hypoplasia	54496	PRMT7	ORPHA:464288
HP:0000089	Renal hypoplasia	6928	HNF1B	OMIM:137920
HP:0000089	Renal hypoplasia	54567	DLL4	OMIM:616589
HP:0000089	Renal hypoplasia	1312	COMT	ORPHA:567
HP:0000089	Renal hypoplasia	221037	JMJD1C	ORPHA:567
HP:0000089	Renal hypoplasia	2812	GP1BB	ORPHA:567
HP:0000089	Renal hypoplasia	6239	RREB1	ORPHA:567
HP:0000089	Renal hypoplasia	6899	TBX1	ORPHA:567
HP:0000089	Renal hypoplasia	7290	HIRA	ORPHA:567
HP:0000089	Renal hypoplasia	9632	SEC24C	ORPHA:567
HP:0000089	Renal hypoplasia	7353	UFD1	ORPHA:567
HP:0000089	Renal hypoplasia	421	ARVCF	ORPHA:567
HP:0000089	Renal hypoplasia	91647	ATPAF2	OMIM:604273
HP:0000089	Renal hypoplasia	25778	DSTYK	OMIM:610805
HP:0000089	Renal hypoplasia	1717	DHCR7	OMIM:270400
HP:0000089	Renal hypoplasia	652	BMP4	OMIM:607932
HP:0000089	Renal hypoplasia	8091	HMGA2	ORPHA:94063
HP:0000089	Renal hypoplasia	23592	LEMD3	ORPHA:94063
HP:0000089	Renal hypoplasia	1822	ATN1	OMIM:618494
HP:0000089	Renal hypoplasia	5147	PDE6D	OMIM:615665
HP:0000089	Renal hypoplasia	55636	CHD7	OMIM:214800
HP:0000089	Renal hypoplasia	79633	FAT4	OMIM:615546
HP:0000089	Renal hypoplasia	79633	FAT4	ORPHA:314679
HP:0000089	Renal hypoplasia	4582	MUC1	OMIM:174000
HP:0000089	Renal hypoplasia	8642	DCHS1	OMIM:601390
HP:0000089	Renal hypoplasia	8642	DCHS1	ORPHA:314679
HP:0000089	Renal hypoplasia	9096	TBX18	OMIM:143400
HP:0000089	Renal hypoplasia	2737	GLI3	OMIM:146510
HP:0000089	Renal hypoplasia	5972	REN	OMIM:613092
HP:0000089	Renal hypoplasia	8260	NAA10	OMIM:309800
HP:0000089	Renal hypoplasia	54880	BCOR	OMIM:309800
HP:0000089	Renal hypoplasia	145173	B3GLCT	OMIM:261540
HP:0000089	Renal hypoplasia	6804	STX1A	ORPHA:904
HP:0000089	Renal hypoplasia	7461	CLIP2	ORPHA:904
HP:0000089	Renal hypoplasia	84277	DNAJC30	ORPHA:904
HP:0000089	Renal hypoplasia	8468	FKBP6	ORPHA:904
HP:0000089	Renal hypoplasia	5982	RFC2	ORPHA:904
HP:0000089	Renal hypoplasia	2969	GTF2I	ORPHA:904
HP:0000089	Renal hypoplasia	3984	LIMK1	ORPHA:904
HP:0000089	Renal hypoplasia	9569	GTF2IRD1	ORPHA:904
HP:0000089	Renal hypoplasia	155382	VPS37D	ORPHA:904
HP:0000089	Renal hypoplasia	155368	METTL27	ORPHA:904
HP:0000089	Renal hypoplasia	114049	BUD23	ORPHA:904
HP:0000089	Renal hypoplasia	7458	EIF4H	ORPHA:904
HP:0000089	Renal hypoplasia	84163	GTF2IRD2	ORPHA:904
HP:0000089	Renal hypoplasia	9275	BCL7B	ORPHA:904
HP:0000089	Renal hypoplasia	26608	TBL2	ORPHA:904
HP:0000089	Renal hypoplasia	653361	NCF1	ORPHA:904
HP:0000089	Renal hypoplasia	135886	TMEM270	ORPHA:904
HP:0000089	Renal hypoplasia	51085	MLXIPL	ORPHA:904
HP:0000089	Renal hypoplasia	51085	MLXIPL	OMIM:194050
HP:0000089	Renal hypoplasia	9031	BAZ1B	ORPHA:904
HP:0000089	Renal hypoplasia	2006	ELN	ORPHA:904
HP:0000089	Renal hypoplasia	2006	ELN	OMIM:194050
HP:0000089	Renal hypoplasia	8364	H4C3	OMIM:619758
HP:0000089	Renal hypoplasia	55165	CEP55	OMIM:236500
HP:0000089	Renal hypoplasia	10907	TXNL4A	OMIM:608572
HP:0000089	Renal hypoplasia	8204	NRIP1	OMIM:618270
HP:0000089	Renal hypoplasia	284252	KCTD1	OMIM:181270
HP:0000089	Renal hypoplasia	9928	KIF14	OMIM:616258
HP:0000089	Renal hypoplasia	9928	KIF14	OMIM:617914
HP:0000089	Renal hypoplasia	51473	DCDC2	ORPHA:84081
HP:0000089	Renal hypoplasia	91147	TMEM67	ORPHA:84081
HP:0000089	Renal hypoplasia	182	JAG1	OMIM:118450
HP:0000089	Renal hypoplasia	2263	FGFR2	ORPHA:2363
HP:0000089	Renal hypoplasia	2261	FGFR3	ORPHA:2363
HP:0000089	Renal hypoplasia	2255	FGF10	ORPHA:2363
HP:0000089	Renal hypoplasia	51339	DACT1	ORPHA:857
HP:0000089	Renal hypoplasia	84919	PPP1R15B	OMIM:616817
HP:0000089	Renal hypoplasia	63895	PIEZO2	OMIM:248700
HP:0000089	Renal hypoplasia	10084	PQBP1	OMIM:309500
HP:0000089	Renal hypoplasia	5915	RARB	ORPHA:2470
HP:0000089	Renal hypoplasia	55120	FANCL	OMIM:614083
HP:0000089	Renal hypoplasia	153241	CEP120	OMIM:616300
HP:0000089	Renal hypoplasia	7518	XRCC4	OMIM:616541
HP:0000089	Renal hypoplasia	4193	MDM2	OMIM:618681
HP:0000089	Renal hypoplasia	10463	SLC30A9	OMIM:617595
HP:0000089	Renal hypoplasia	51360	MBTPS2	ORPHA:85284
HP:0000089	Renal hypoplasia	546	ATRX	OMIM:309580
HP:0000089	Renal hypoplasia	5885	RAD21	OMIM:611376
HP:0000089	Renal hypoplasia	25836	NIPBL	OMIM:122470
HP:0000089	Renal hypoplasia	50628	GEMIN4	OMIM:617913
HP:0000089	Renal hypoplasia	55005	RMND1	OMIM:614922
HP:0000089	Renal hypoplasia	5557	PRIM1	OMIM:620005
HP:0000089	Renal hypoplasia	4853	NOTCH2	OMIM:610205
HP:0000089	Renal hypoplasia	84100	ARL6	OMIM:600151
HP:0000089	Renal hypoplasia	6223	RPS19	OMIM:105650
HP:0000089	Renal hypoplasia	8295	TRRAP	OMIM:618454
HP:0000089	Renal hypoplasia	9652	SKIC3	ORPHA:84064
HP:0000089	Renal hypoplasia	6499	SKIC2	ORPHA:84064
HP:0000089	Renal hypoplasia	57728	WDR19	OMIM:614376
HP:0000089	Renal hypoplasia	57728	WDR19	OMIM:614377
HP:0000089	Renal hypoplasia	4654	MYOD1	OMIM:618975
HP:0000089	Renal hypoplasia	27152	INTU	OMIM:617926
HP:0000089	Renal hypoplasia	3762	KCNJ5	ORPHA:37553
HP:0000089	Renal hypoplasia	3759	KCNJ2	ORPHA:37553
HP:0000089	Renal hypoplasia	4038	LRP4	OMIM:212780
HP:0000089	Renal hypoplasia	5361	PLXNA1	OMIM:619955
HP:0000089	Renal hypoplasia	26005	C2CD3	OMIM:615948
HP:0000089	Renal hypoplasia	8367	H4C5	OMIM:619950
HP:0000089	Renal hypoplasia	4174	MCM5	OMIM:617564
HP:0000089	Renal hypoplasia	3265	HRAS	ORPHA:2874
HP:0000089	Renal hypoplasia	22827	PUF60	ORPHA:508488
HP:0000089	Renal hypoplasia	1063	CENPF	OMIM:243605
HP:0000089	Renal hypoplasia	374879	ZNF699	OMIM:619488
HP:0000089	Renal hypoplasia	7468	NSD2	OMIM:619695
HP:0000131	Uterine leiomyoma	2271	FH	OMIM:150800
HP:0000131	Uterine leiomyoma	2271	FH	ORPHA:523
HP:0000131	Uterine leiomyoma	79577	CDC73	ORPHA:143
HP:0000131	Uterine leiomyoma	79577	CDC73	ORPHA:99880
HP:0000131	Uterine leiomyoma	2261	FGFR3	OMIM:616482
HP:0000131	Uterine leiomyoma	4437	MSH3	ORPHA:480536
HP:0000131	Uterine leiomyoma	4437	MSH3	OMIM:617100
HP:0008643	Nephroblastomatosis	129563	DIS3L2	OMIM:267000
HP:0008643	Nephroblastomatosis	168667	BMPER	OMIM:608022
HP:0000147	Polycystic ovaries	7840	ALMS1	ORPHA:64
HP:0000147	Polycystic ovaries	6662	SOX9	ORPHA:393
HP:0000147	Polycystic ovaries	6662	SOX9	ORPHA:2138
HP:0000147	Polycystic ovaries	6662	SOX9	ORPHA:242
HP:0000147	Polycystic ovaries	6658	SOX3	ORPHA:393
HP:0000147	Polycystic ovaries	2516	NR5A1	ORPHA:393
HP:0000147	Polycystic ovaries	2516	NR5A1	ORPHA:2138
HP:0000147	Polycystic ovaries	2516	NR5A1	ORPHA:242
HP:0000147	Polycystic ovaries	6736	SRY	ORPHA:393
HP:0000147	Polycystic ovaries	6736	SRY	ORPHA:2138
HP:0000147	Polycystic ovaries	6736	SRY	ORPHA:242
HP:0000147	Polycystic ovaries	190	NR0B1	ORPHA:393
HP:0000147	Polycystic ovaries	190	NR0B1	ORPHA:242
HP:0000147	Polycystic ovaries	26580	BSCL2	OMIM:269700
HP:0000147	Polycystic ovaries	26580	BSCL2	ORPHA:528
HP:0000147	Polycystic ovaries	3991	LIPE	ORPHA:435660
HP:0000147	Polycystic ovaries	4519	MT-CYB	ORPHA:137675
HP:0000147	Polycystic ovaries	2321	FLT1	ORPHA:275555
HP:0000147	Polycystic ovaries	219736	STOX1	ORPHA:275555
HP:0000147	Polycystic ovaries	10699	CORIN	ORPHA:275555
HP:0000147	Polycystic ovaries	6804	STX1A	ORPHA:904
HP:0000147	Polycystic ovaries	7461	CLIP2	ORPHA:904
HP:0000147	Polycystic ovaries	84277	DNAJC30	ORPHA:904
HP:0000147	Polycystic ovaries	8468	FKBP6	ORPHA:904
HP:0000147	Polycystic ovaries	5982	RFC2	ORPHA:904
HP:0000147	Polycystic ovaries	2969	GTF2I	ORPHA:904
HP:0000147	Polycystic ovaries	3984	LIMK1	ORPHA:904
HP:0000147	Polycystic ovaries	9569	GTF2IRD1	ORPHA:904
HP:0000147	Polycystic ovaries	155382	VPS37D	ORPHA:904
HP:0000147	Polycystic ovaries	155368	METTL27	ORPHA:904
HP:0000147	Polycystic ovaries	114049	BUD23	ORPHA:904
HP:0000147	Polycystic ovaries	7458	EIF4H	ORPHA:904
HP:0000147	Polycystic ovaries	84163	GTF2IRD2	ORPHA:904
HP:0000147	Polycystic ovaries	9275	BCL7B	ORPHA:904
HP:0000147	Polycystic ovaries	26608	TBL2	ORPHA:904
HP:0000147	Polycystic ovaries	653361	NCF1	ORPHA:904
HP:0000147	Polycystic ovaries	135886	TMEM270	ORPHA:904
HP:0000147	Polycystic ovaries	51085	MLXIPL	ORPHA:904
HP:0000147	Polycystic ovaries	9031	BAZ1B	ORPHA:904
HP:0000147	Polycystic ovaries	2006	ELN	ORPHA:904
HP:0000147	Polycystic ovaries	118429	ANTXR2	ORPHA:2176
HP:0000147	Polycystic ovaries	472	ATM	ORPHA:100
HP:0000147	Polycystic ovaries	5346	PLIN1	ORPHA:280356
HP:0000147	Polycystic ovaries	5468	PPARG	OMIM:604367
HP:0000147	Polycystic ovaries	5468	PPARG	ORPHA:79083
HP:0000147	Polycystic ovaries	5468	PPARG	ORPHA:528
HP:0000147	Polycystic ovaries	63924	CIDEC	ORPHA:435651
HP:0000147	Polycystic ovaries	6927	HNF1A	OMIM:142330
HP:0000147	Polycystic ovaries	668	FOXL2	ORPHA:572333
HP:0000147	Polycystic ovaries	2542	SLC37A4	ORPHA:79259
HP:0000147	Polycystic ovaries	1584	CYP11B1	ORPHA:90795
HP:0000147	Polycystic ovaries	4000	LMNA	ORPHA:280365
HP:0000147	Polycystic ovaries	4000	LMNA	ORPHA:79084
HP:0000147	Polycystic ovaries	4000	LMNA	OMIM:151660
HP:0000147	Polycystic ovaries	4000	LMNA	ORPHA:2229
HP:0000147	Polycystic ovaries	4000	LMNA	ORPHA:2348
HP:0000147	Polycystic ovaries	208	AKT2	ORPHA:79085
HP:0000147	Polycystic ovaries	5257	PHKB	ORPHA:79240
HP:0000147	Polycystic ovaries	10555	AGPAT2	ORPHA:528
HP:0000147	Polycystic ovaries	10555	AGPAT2	OMIM:608594
HP:0000147	Polycystic ovaries	284119	CAVIN1	ORPHA:528
HP:0000147	Polycystic ovaries	2353	FOS	ORPHA:528
HP:0000147	Polycystic ovaries	857	CAV1	ORPHA:528
HP:0000147	Polycystic ovaries	4313	MMP2	ORPHA:371428
HP:0000147	Polycystic ovaries	4323	MMP14	ORPHA:371428
HP:0000147	Polycystic ovaries	1761	DMRT1	ORPHA:242
HP:0000147	Polycystic ovaries	84733	CBX2	ORPHA:242
HP:0000147	Polycystic ovaries	50846	DHH	ORPHA:242
HP:0000147	Polycystic ovaries	4214	MAP3K1	ORPHA:242
HP:0000147	Polycystic ovaries	7490	WT1	ORPHA:242
HP:0000147	Polycystic ovaries	57647	DHX37	ORPHA:242
HP:0000147	Polycystic ovaries	5256	PHKA2	ORPHA:264580
HP:0000147	Polycystic ovaries	5261	PHKG2	ORPHA:264580
HP:0000147	Polycystic ovaries	24145	PANX1	ORPHA:488191
HP:0000147	Polycystic ovaries	494551	WEE2	ORPHA:488191
HP:0000147	Polycystic ovaries	197135	PATL2	ORPHA:488191
HP:0000147	Polycystic ovaries	347688	TUBB8	ORPHA:488191
HP:0000147	Polycystic ovaries	84823	LMNB2	OMIM:608709
HP:0000147	Polycystic ovaries	29072	SETD2	OMIM:616831
HP:0000147	Polycystic ovaries	4487	MSX1	ORPHA:2228
HP:0000147	Polycystic ovaries	1528	CYB5A	ORPHA:90796
HP:0000147	Polycystic ovaries	1586	CYP17A1	ORPHA:90796
HP:0000147	Polycystic ovaries	2099	ESR1	ORPHA:785
HP:0000147	Polycystic ovaries	10483	SEC23B	ORPHA:201
HP:0000147	Polycystic ovaries	5728	PTEN	ORPHA:201
HP:0000147	Polycystic ovaries	5728	PTEN	ORPHA:744
HP:0000147	Polycystic ovaries	6390	SDHB	ORPHA:201
HP:0000147	Polycystic ovaries	6392	SDHD	ORPHA:201
HP:0000147	Polycystic ovaries	6391	SDHC	ORPHA:201
HP:0000147	Polycystic ovaries	207	AKT1	ORPHA:201
HP:0000147	Polycystic ovaries	207	AKT1	ORPHA:744
HP:0000147	Polycystic ovaries	205717	USF3	ORPHA:201
HP:0000147	Polycystic ovaries	5290	PIK3CA	ORPHA:201
HP:0000147	Polycystic ovaries	100144748	KLLN	ORPHA:201
HP:0000147	Polycystic ovaries	6794	STK11	ORPHA:2869
HP:0000147	Polycystic ovaries	2492	FSHR	ORPHA:64739
HP:0000147	Polycystic ovaries	1588	CYP19A1	ORPHA:91
HP:0000147	Polycystic ovaries	5447	POR	ORPHA:95699
HP:0001480	Freckling	2956	MSH6	OMIM:619097
HP:0001480	Freckling	4292	MLH1	OMIM:276300
HP:0001480	Freckling	54345	SOX18	OMIM:137940
HP:0001480	Freckling	5573	PRKAR1A	OMIM:160980
HP:0001480	Freckling	2074	ERCC6	OMIM:600630
HP:0001480	Freckling	2072	ERCC4	OMIM:278760
HP:0001480	Freckling	2072	ERCC4	ORPHA:910
HP:0001480	Freckling	1161	ERCC8	OMIM:614621
HP:0001480	Freckling	57654	UVSSA	OMIM:614640
HP:0001480	Freckling	161742	SPRED1	OMIM:611431
HP:0001480	Freckling	7994	KAT6A	OMIM:616268
HP:0001480	Freckling	3257	HPS1	OMIM:203300
HP:0001480	Freckling	4683	NBN	ORPHA:647
HP:0001480	Freckling	7508	XPC	OMIM:278720
HP:0001480	Freckling	7508	XPC	ORPHA:910
HP:0001480	Freckling	5781	PTPN11	ORPHA:500
HP:0001480	Freckling	673	BRAF	ORPHA:500
HP:0001480	Freckling	5894	RAF1	ORPHA:500
HP:0001480	Freckling	4763	NF1	OMIM:162210
HP:0001480	Freckling	4763	NF1	ORPHA:97685
HP:0001480	Freckling	8943	AP3D1	ORPHA:54
HP:0001480	Freckling	4935	GPR143	ORPHA:54
HP:0001480	Freckling	2068	ERCC2	OMIM:601675
HP:0001480	Freckling	2068	ERCC2	ORPHA:910
HP:0001480	Freckling	10058	ABCB6	ORPHA:241
HP:0001480	Freckling	8626	TP63	ORPHA:69085
HP:0001480	Freckling	8626	TP63	ORPHA:978
HP:0001480	Freckling	8626	TP63	OMIM:103285
HP:0001480	Freckling	23328	SASH1	OMIM:618373
HP:0001480	Freckling	1001	CDH3	ORPHA:1573
HP:0001480	Freckling	2071	ERCC3	OMIM:610651
HP:0001480	Freckling	2071	ERCC3	ORPHA:910
HP:0001480	Freckling	5500	PPP1CB	OMIM:617506
HP:0001480	Freckling	8314	BAP1	ORPHA:618
HP:0001480	Freckling	4286	MITF	ORPHA:618
HP:0001480	Freckling	1019	CDK4	ORPHA:618
HP:0001480	Freckling	4255	MGMT	ORPHA:618
HP:0001480	Freckling	54386	TERF2IP	ORPHA:618
HP:0001480	Freckling	4157	MC1R	ORPHA:618
HP:0001480	Freckling	4157	MC1R	ORPHA:79432
HP:0001480	Freckling	65057	ACD	ORPHA:618
HP:0001480	Freckling	1029	CDKN2A	ORPHA:618
HP:0001480	Freckling	7015	TERT	ORPHA:618
HP:0001480	Freckling	25913	POT1	ORPHA:618
HP:0001480	Freckling	1030	CDKN2B	ORPHA:618
HP:0001480	Freckling	7299	TYR	ORPHA:79431
HP:0001480	Freckling	7299	TYR	ORPHA:79434
HP:0001480	Freckling	4948	OCA2	ORPHA:79432
HP:0001480	Freckling	7306	TYRP1	ORPHA:79433
HP:0001480	Freckling	7507	XPA	ORPHA:910
HP:0001480	Freckling	1643	DDB2	ORPHA:910
HP:0001480	Freckling	2073	ERCC5	ORPHA:910
HP:0001480	Freckling	56983	POGLUT1	ORPHA:79145
HP:0001480	Freckling	3852	KRT5	ORPHA:79145
HP:0001480	Freckling	23509	POFUT1	ORPHA:79145
HP:0001480	Freckling	55851	PSENEN	ORPHA:79145
HP:0001483	Eye poking	3000	GUCY2D	OMIM:204000
HP:0001483	Eye poking	6121	RPE65	OMIM:204100
HP:0001483	Eye poking	7287	TULP1	OMIM:613843
HP:0001483	Eye poking	23418	CRB1	OMIM:613835
HP:0001483	Eye poking	64802	NMNAT1	OMIM:608553
HP:0000528	Anophthalmia	64840	PORCN	OMIM:305600
HP:0000528	Anophthalmia	341640	FREM2	ORPHA:2052
HP:0000528	Anophthalmia	80144	FRAS1	ORPHA:2052
HP:0000528	Anophthalmia	80144	FRAS1	OMIM:219000
HP:0000528	Anophthalmia	23426	GRIP1	ORPHA:2052
HP:0000528	Anophthalmia	23347	SMCHD1	ORPHA:2250
HP:0000528	Anophthalmia	8260	NAA10	OMIM:309800
HP:0000528	Anophthalmia	54880	BCOR	OMIM:309800
HP:0000528	Anophthalmia	54880	BCOR	OMIM:300166
HP:0000528	Anophthalmia	220	ALDH1A3	OMIM:615113
HP:0000528	Anophthalmia	79848	CSPP1	OMIM:615636
HP:0000528	Anophthalmia	79848	CSPP1	ORPHA:564
HP:0000528	Anophthalmia	30062	RAX	OMIM:611038
HP:0000528	Anophthalmia	85440	DOCK7	ORPHA:411986
HP:0000528	Anophthalmia	10586	MAB21L2	OMIM:615877
HP:0000528	Anophthalmia	10992	SF3B2	OMIM:164210
HP:0000528	Anophthalmia	64220	STRA6	OMIM:601186
HP:0000528	Anophthalmia	64220	STRA6	ORPHA:2470
HP:0000528	Anophthalmia	6469	SHH	OMIM:611638
HP:0000528	Anophthalmia	6469	SHH	OMIM:147250
HP:0000528	Anophthalmia	1161	ERCC8	ORPHA:90321
HP:0000528	Anophthalmia	1161	ERCC8	ORPHA:90322
HP:0000528	Anophthalmia	2072	ERCC4	ORPHA:90321
HP:0000528	Anophthalmia	2074	ERCC6	ORPHA:90321
HP:0000528	Anophthalmia	2074	ERCC6	ORPHA:90322
HP:0000528	Anophthalmia	2067	ERCC1	ORPHA:90322
HP:0000528	Anophthalmia	2736	GLI2	OMIM:610829
HP:0000528	Anophthalmia	158326	FREM1	OMIM:248450
HP:0000528	Anophthalmia	158326	FREM1	ORPHA:2717
HP:0000528	Anophthalmia	3832	KIF11	ORPHA:2526
HP:0000528	Anophthalmia	5915	RARB	OMIM:615524
HP:0000528	Anophthalmia	5915	RARB	ORPHA:2470
HP:0000528	Anophthalmia	64093	SMOC1	OMIM:206920
HP:0000528	Anophthalmia	55636	CHD7	ORPHA:138
HP:0000528	Anophthalmia	55636	CHD7	OMIM:214800
HP:0000528	Anophthalmia	9723	SEMA3E	ORPHA:138
HP:0000528	Anophthalmia	2187	FANCB	ORPHA:3412
HP:0000528	Anophthalmia	84892	POMGNT2	ORPHA:899
HP:0000528	Anophthalmia	148789	B3GALNT2	ORPHA:899
HP:0000528	Anophthalmia	79147	FKRP	ORPHA:899
HP:0000528	Anophthalmia	29954	POMT2	ORPHA:899
HP:0000528	Anophthalmia	9215	LARGE1	ORPHA:899
HP:0000528	Anophthalmia	1282	COL4A1	ORPHA:899
HP:0000528	Anophthalmia	729920	CRPPA	ORPHA:899
HP:0000528	Anophthalmia	10329	RXYLT1	ORPHA:899
HP:0000528	Anophthalmia	1605	DAG1	ORPHA:899
HP:0000528	Anophthalmia	11041	B4GAT1	ORPHA:899
HP:0000528	Anophthalmia	10585	POMT1	ORPHA:899
HP:0000528	Anophthalmia	84197	POMK	ORPHA:899
HP:0000528	Anophthalmia	2218	FKTN	ORPHA:899
HP:0000528	Anophthalmia	55624	POMGNT1	ORPHA:899
HP:0000528	Anophthalmia	6657	SOX2	ORPHA:77298
HP:0000528	Anophthalmia	6657	SOX2	OMIM:206900
HP:0000528	Anophthalmia	652	BMP4	ORPHA:139471
HP:0000528	Anophthalmia	652	BMP4	OMIM:607932
HP:0000528	Anophthalmia	81788	NUAK2	OMIM:619452
HP:0000528	Anophthalmia	5950	RBP4	OMIM:616428
HP:0000528	Anophthalmia	5015	OTX2	OMIM:610125
HP:0000528	Anophthalmia	54539	NDUFB11	ORPHA:2556
HP:0000528	Anophthalmia	1349	COX7B	ORPHA:2556
HP:0000528	Anophthalmia	3052	HCCS	ORPHA:2556
HP:0000528	Anophthalmia	7020	TFAP2A	OMIM:113620
HP:0000528	Anophthalmia	84314	TMEM107	ORPHA:564
HP:0000528	Anophthalmia	26123	TCTN3	ORPHA:564
HP:0000528	Anophthalmia	79867	TCTN2	ORPHA:564
HP:0000528	Anophthalmia	79867	TCTN2	OMIM:613885
HP:0000528	Anophthalmia	80776	B9D2	ORPHA:564
HP:0000528	Anophthalmia	79600	TCTN1	ORPHA:564
HP:0000528	Anophthalmia	57096	RPGRIP1	ORPHA:564
HP:0000528	Anophthalmia	80184	CEP290	ORPHA:564
HP:0000528	Anophthalmia	51259	TMEM216	ORPHA:564
HP:0000528	Anophthalmia	57545	CC2D2A	ORPHA:564
HP:0000528	Anophthalmia	79583	TMEM231	ORPHA:564
HP:0000528	Anophthalmia	91147	TMEM67	ORPHA:564
HP:0000528	Anophthalmia	79770	TXNDC15	ORPHA:564
HP:0000528	Anophthalmia	27077	B9D1	ORPHA:564
HP:0000528	Anophthalmia	23322	RPGRIP1L	ORPHA:564
HP:0000528	Anophthalmia	54903	MKS1	ORPHA:564
HP:0000528	Anophthalmia	65062	TMEM237	ORPHA:564
HP:0000528	Anophthalmia	219844	HYLS1	ORPHA:2189
HP:0000528	Anophthalmia	374654	KIF7	ORPHA:2189
HP:0000528	Anophthalmia	4990	SIX6	OMIM:206900
HP:0001488	Bilateral ptosis	401	PHOX2A	OMIM:602078
HP:0001488	Bilateral ptosis	10059	DNM1L	ORPHA:330050
HP:0001488	Bilateral ptosis	1621	DBH	ORPHA:230
HP:0001488	Bilateral ptosis	23394	ADNP	ORPHA:404448
HP:0001488	Bilateral ptosis	23394	ADNP	OMIM:615873
HP:0001488	Bilateral ptosis	91452	ACBD5	OMIM:618863
HP:0001488	Bilateral ptosis	1182	CLCN3	OMIM:619512
HP:0001488	Bilateral ptosis	50484	RRM2B	ORPHA:329336
HP:0001488	Bilateral ptosis	246243	RNASEH1	ORPHA:329336
HP:0001488	Bilateral ptosis	246243	RNASEH1	OMIM:616479
HP:0001488	Bilateral ptosis	5885	RAD21	OMIM:614701
HP:0001488	Bilateral ptosis	5885	RAD21	OMIM:611376
HP:0001488	Bilateral ptosis	55628	ZNF407	OMIM:619557
HP:0001488	Bilateral ptosis	5428	POLG	OMIM:258450
HP:0001488	Bilateral ptosis	246329	STAC3	ORPHA:168572
HP:0001488	Bilateral ptosis	118987	PDZD8	OMIM:620021
HP:0001488	Bilateral ptosis	526	ATP6V1B2	ORPHA:79500
HP:0001488	Bilateral ptosis	57465	TBC1D24	ORPHA:79500
HP:0001488	Bilateral ptosis	55209	SETD5	ORPHA:404440
HP:0001488	Bilateral ptosis	25915	NDUFAF3	ORPHA:70474
HP:0001488	Bilateral ptosis	4714	NDUFB8	ORPHA:70474
HP:0001488	Bilateral ptosis	4720	NDUFS2	ORPHA:70474
HP:0001488	Bilateral ptosis	9997	SCO2	ORPHA:70474
HP:0001488	Bilateral ptosis	6834	SURF1	ORPHA:70474
HP:0001488	Bilateral ptosis	5339	PLEC	ORPHA:254361
HP:0001488	Bilateral ptosis	4094	MAF	ORPHA:1272
HP:0001488	Bilateral ptosis	2934	GSN	ORPHA:85448
HP:0001488	Bilateral ptosis	9578	CDC42BPB	OMIM:619841
HP:0001488	Bilateral ptosis	6329	SCN4A	OMIM:614198
HP:0001488	Bilateral ptosis	4893	NRAS	OMIM:613224
HP:0001488	Bilateral ptosis	4953	ODC1	ORPHA:544488
HP:0001488	Bilateral ptosis	8292	COLQ	ORPHA:98915
HP:0001488	Bilateral ptosis	3913	LAMB2	ORPHA:98915
HP:0001488	Bilateral ptosis	55768	NGLY1	ORPHA:404454
HP:0001488	Bilateral ptosis	3767	KCNJ11	ORPHA:79134
HP:0001488	Bilateral ptosis	3767	KCNJ11	ORPHA:99885
HP:0001488	Bilateral ptosis	3767	KCNJ11	OMIM:618856
HP:0001488	Bilateral ptosis	79731	NARS2	ORPHA:79134
HP:0001488	Bilateral ptosis	6833	ABCC8	ORPHA:79134
HP:0001488	Bilateral ptosis	6833	ABCC8	ORPHA:99885
HP:0001488	Bilateral ptosis	5053	PAH	ORPHA:2209
HP:0001488	Bilateral ptosis	6774	STAT3	ORPHA:99885
HP:0001488	Bilateral ptosis	2645	GCK	ORPHA:99885
HP:0001488	Bilateral ptosis	3651	PDX1	ORPHA:99885
HP:0001488	Bilateral ptosis	3630	INS	ORPHA:99885
HP:0001488	Bilateral ptosis	3756	KCNH1	ORPHA:420561
HP:0001488	Bilateral ptosis	7298	TYMS	OMIM:620040
HP:0001488	Bilateral ptosis	1146	CHRNG	OMIM:265000
HP:0001488	Bilateral ptosis	347733	TUBB2B	ORPHA:467166
HP:0001488	Bilateral ptosis	7846	TUBA1A	ORPHA:467166
HP:0001488	Bilateral ptosis	10381	TUBB3	ORPHA:467166
HP:0001488	Bilateral ptosis	10381	TUBB3	ORPHA:300570
HP:0001488	Bilateral ptosis	7084	TK2	ORPHA:254875
HP:0001488	Bilateral ptosis	55605	KIF21A	OMIM:135700
HP:0001488	Bilateral ptosis	165	AEBP1	OMIM:618000
HP:0001488	Bilateral ptosis	165	AEBP1	ORPHA:536532
HP:0001488	Bilateral ptosis	8260	NAA10	OMIM:300855
HP:0001488	Bilateral ptosis	1716	DGUOK	ORPHA:329314
HP:0001488	Bilateral ptosis	29967	LRP12	OMIM:164310
HP:0001488	Bilateral ptosis	23479	ISCU	OMIM:255125
HP:0001488	Bilateral ptosis	1280	COL2A1	ORPHA:485
HP:0001488	Bilateral ptosis	2316	FLNA	ORPHA:555877
HP:0001488	Bilateral ptosis	10087	CERT1	OMIM:616351
HP:0001488	Bilateral ptosis	6261	RYR1	OMIM:619542
HP:0001488	Bilateral ptosis	23028	KDM1A	ORPHA:477993
HP:0001488	Bilateral ptosis	26053	AUTS2	ORPHA:352490
HP:0001488	Bilateral ptosis	5442	POLRMT	OMIM:619743
HP:0001488	Bilateral ptosis	4858	NOVA2	OMIM:618859
HP:0001488	Bilateral ptosis	23384	SPECC1L	OMIM:145420
HP:0001488	Bilateral ptosis	55690	PACS1	ORPHA:329224
HP:0001488	Bilateral ptosis	55753	OGDHL	OMIM:619701
HP:0001488	Bilateral ptosis	3425	IDUA	OMIM:607014
HP:0001488	Bilateral ptosis	6654	SOS1	OMIM:610733
HP:0001488	Bilateral ptosis	7291	TWIST1	OMIM:180750
HP:0001488	Bilateral ptosis	7490	WT1	OMIM:106210
HP:0001488	Bilateral ptosis	5080	PAX6	OMIM:106210
HP:0001488	Bilateral ptosis	8085	KMT2D	OMIM:147920
HP:0001488	Bilateral ptosis	7403	KDM6A	OMIM:147920
HP:0001488	Bilateral ptosis	4976	OPA1	ORPHA:1215
HP:0001488	Bilateral ptosis	3479	IGF1	ORPHA:73272
HP:0001488	Bilateral ptosis	84570	COL25A1	ORPHA:91411
HP:0001488	Bilateral ptosis	79776	ZFHX4	ORPHA:91411
HP:0001489	Posterior vitreous detachment	8322	FZD4	OMIM:133780
HP:0001489	Posterior vitreous detachment	4041	LRP5	OMIM:133780
HP:0001489	Posterior vitreous detachment	4041	LRP5	OMIM:601813
HP:0001489	Posterior vitreous detachment	79797	ZNF408	OMIM:616468
HP:0000026	Male hypogonadism	2260	FGFR1	ORPHA:432
HP:0000026	Male hypogonadism	81848	SPRY4	ORPHA:432
HP:0000026	Male hypogonadism	128674	PROKR2	ORPHA:432
HP:0000026	Male hypogonadism	2253	FGF8	ORPHA:432
HP:0000026	Male hypogonadism	60675	PROK2	ORPHA:432
HP:0000026	Male hypogonadism	55636	CHD7	ORPHA:432
HP:0000026	Male hypogonadism	6870	TACR3	ORPHA:432
HP:0000026	Male hypogonadism	1848	DUSP6	ORPHA:432
HP:0000026	Male hypogonadism	26012	NSMF	ORPHA:432
HP:0000026	Male hypogonadism	55717	WDR11	ORPHA:432
HP:0000026	Male hypogonadism	9394	HS6ST1	ORPHA:432
HP:0000026	Male hypogonadism	2796	GNRH1	ORPHA:432
HP:0000026	Male hypogonadism	2798	GNRHR	ORPHA:432
HP:0000026	Male hypogonadism	84634	KISS1R	ORPHA:432
HP:0000026	Male hypogonadism	6866	TAC3	ORPHA:432
HP:0000026	Male hypogonadism	8822	FGF17	ORPHA:432
HP:0000026	Male hypogonadism	3814	KISS1	ORPHA:432
HP:0000026	Male hypogonadism	26160	IFT172	OMIM:619471
HP:0000026	Male hypogonadism	1497	CTNS	OMIM:219800
HP:0000026	Male hypogonadism	6662	SOX9	ORPHA:393
HP:0000026	Male hypogonadism	6658	SOX3	ORPHA:393
HP:0000026	Male hypogonadism	2516	NR5A1	ORPHA:393
HP:0000026	Male hypogonadism	6736	SRY	ORPHA:393
HP:0000026	Male hypogonadism	190	NR0B1	ORPHA:393
HP:0000026	Male hypogonadism	4204	MECP2	OMIM:300055
HP:0000026	Male hypogonadism	326	AIRE	OMIM:240300
HP:0000026	Male hypogonadism	215	ABCD1	ORPHA:139396
HP:0000026	Male hypogonadism	64682	ANAPC1	OMIM:618625
HP:0000026	Male hypogonadism	493856	CISD2	ORPHA:3463
HP:0000026	Male hypogonadism	7466	WFS1	ORPHA:3463
HP:0000026	Male hypogonadism	7466	WFS1	ORPHA:411590
HP:0000026	Male hypogonadism	1161	ERCC8	ORPHA:90321
HP:0000026	Male hypogonadism	1161	ERCC8	ORPHA:90322
HP:0000026	Male hypogonadism	2072	ERCC4	ORPHA:90321
HP:0000026	Male hypogonadism	2074	ERCC6	ORPHA:90321
HP:0000026	Male hypogonadism	2074	ERCC6	ORPHA:90322
HP:0000026	Male hypogonadism	2067	ERCC1	ORPHA:90322
HP:0000026	Male hypogonadism	2488	FSHB	ORPHA:52901
HP:0000026	Male hypogonadism	1968	EIF2S3	OMIM:300148
HP:0000026	Male hypogonadism	5424	POLD1	OMIM:615381
HP:0000026	Male hypogonadism	3972	LHB	OMIM:228300
HP:0000026	Male hypogonadism	64072	CDH23	ORPHA:91347
HP:0000026	Male hypogonadism	64072	CDH23	ORPHA:2965
HP:0000026	Male hypogonadism	4221	MEN1	ORPHA:2965
HP:0000026	Male hypogonadism	9049	AIP	ORPHA:2965
HP:0000026	Male hypogonadism	5422	POLA1	ORPHA:163976
HP:0000026	Male hypogonadism	1586	CYP17A1	ORPHA:90793
HP:0000026	Male hypogonadism	50846	DHH	ORPHA:168563
HP:0000113	Polycystic kidney dysplasia	51726	DNAJB11	OMIM:618061
HP:0000113	Polycystic kidney dysplasia	79659	DYNC2H1	OMIM:613091
HP:0000113	Polycystic kidney dysplasia	5311	PKD2	OMIM:613095
HP:0000113	Polycystic kidney dysplasia	79583	TMEM231	OMIM:615397
HP:0000113	Polycystic kidney dysplasia	2138	EYA1	OMIM:113650
HP:0000113	Polycystic kidney dysplasia	6495	SIX1	OMIM:113650
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	OMIM:263200
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	ORPHA:53035
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	ORPHA:731
HP:0000113	Polycystic kidney dysplasia	4750	NEK1	OMIM:263520
HP:0000113	Polycystic kidney dysplasia	100151683	RNU4ATAC	OMIM:210710
HP:0000113	Polycystic kidney dysplasia	199221	DZIP1L	OMIM:617610
HP:0000113	Polycystic kidney dysplasia	199221	DZIP1L	ORPHA:731
HP:0000113	Polycystic kidney dysplasia	5828	PEX2	OMIM:614866
HP:0000113	Polycystic kidney dysplasia	8195	MKKS	OMIM:236700
HP:0000113	Polycystic kidney dysplasia	79770	TXNDC15	OMIM:619879
HP:0000113	Polycystic kidney dysplasia	85358	SHANK3	OMIM:606232
HP:0000113	Polycystic kidney dysplasia	79796	ALG9	OMIM:608776
HP:0000113	Polycystic kidney dysplasia	79796	ALG9	OMIM:263210
HP:0000113	Polycystic kidney dysplasia	5830	PEX5	OMIM:214110
HP:0000113	Polycystic kidney dysplasia	157570	ESCO2	ORPHA:3103
HP:0000113	Polycystic kidney dysplasia	157570	ESCO2	OMIM:268300
HP:0000113	Polycystic kidney dysplasia	9321	TRIP11	OMIM:184260
HP:0000113	Polycystic kidney dysplasia	27031	NPHP3	OMIM:208540
HP:0000113	Polycystic kidney dysplasia	219854	TMEM218	OMIM:619562
HP:0000113	Polycystic kidney dysplasia	112752	IFT43	OMIM:617866
HP:0000113	Polycystic kidney dysplasia	79577	CDC73	OMIM:145001
HP:0000113	Polycystic kidney dysplasia	169792	GLIS3	OMIM:610199
HP:0000113	Polycystic kidney dysplasia	8481	OFD1	OMIM:311200
HP:0000113	Polycystic kidney dysplasia	10847	SRCAP	ORPHA:2044
HP:0000113	Polycystic kidney dysplasia	1376	CPT2	OMIM:608836
HP:0000113	Polycystic kidney dysplasia	1376	CPT2	ORPHA:228308
HP:0000113	Polycystic kidney dysplasia	8260	NAA10	OMIM:300855
HP:0000113	Polycystic kidney dysplasia	9786	KIAA0586	OMIM:616546
HP:0000113	Polycystic kidney dysplasia	2625	GATA3	ORPHA:2237
HP:0000113	Polycystic kidney dysplasia	4853	NOTCH2	OMIM:102500
HP:0000113	Polycystic kidney dysplasia	23090	ZNF423	OMIM:614844
HP:0000113	Polycystic kidney dysplasia	3458	IFNG	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	7248	TSC1	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	7249	TSC2	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	1312	COMT	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	221037	JMJD1C	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	2812	GP1BB	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	6239	RREB1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	6899	TBX1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	7290	HIRA	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	9632	SEC24C	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	7353	UFD1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	421	ARVCF	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	57539	WDR35	OMIM:614091
HP:0000113	Polycystic kidney dysplasia	23193	GANAB	OMIM:600666
HP:0000113	Polycystic kidney dysplasia	203286	ANKS6	OMIM:615382
HP:0000113	Polycystic kidney dysplasia	54903	MKS1	OMIM:249000
HP:0000113	Polycystic kidney dysplasia	5310	PKD1	OMIM:173900
HP:0000113	Polycystic kidney dysplasia	84314	TMEM107	OMIM:617562
HP:0000113	Polycystic kidney dysplasia	9652	SKIC3	ORPHA:84064
HP:0000113	Polycystic kidney dysplasia	6499	SKIC2	ORPHA:84064
HP:0000113	Polycystic kidney dysplasia	79867	TCTN2	OMIM:613885
HP:0000113	Polycystic kidney dysplasia	5193	PEX12	OMIM:614859
HP:0000113	Polycystic kidney dysplasia	2108	ETFA	OMIM:231680
HP:0000113	Polycystic kidney dysplasia	2109	ETFB	OMIM:231680
HP:0000113	Polycystic kidney dysplasia	2110	ETFDH	OMIM:231680
HP:0008647	Pubertal developmental failure in females	4000	LMNA	ORPHA:740
HP:0008647	Pubertal developmental failure in females	10269	ZMPSTE24	ORPHA:740
HP:0000142	Abnormal vagina morphology	1583	CYP11A1	ORPHA:289548
HP:0000142	Abnormal vagina morphology	1583	CYP11A1	ORPHA:168558
HP:0000142	Abnormal vagina morphology	7490	WT1	ORPHA:3097
HP:0000142	Abnormal vagina morphology	7490	WT1	ORPHA:251510
HP:0000142	Abnormal vagina morphology	7490	WT1	OMIM:194072
HP:0000142	Abnormal vagina morphology	341640	FREM2	ORPHA:2052
HP:0000142	Abnormal vagina morphology	80144	FRAS1	ORPHA:2052
HP:0000142	Abnormal vagina morphology	23426	GRIP1	ORPHA:2052
HP:0000142	Abnormal vagina morphology	84818	IL17RC	ORPHA:1334
HP:0000142	Abnormal vagina morphology	64581	CLEC7A	ORPHA:1334
HP:0000142	Abnormal vagina morphology	23765	IL17RA	ORPHA:1334
HP:0000142	Abnormal vagina morphology	10758	TRAF3IP2	ORPHA:1334
HP:0000142	Abnormal vagina morphology	112744	IL17F	ORPHA:1334
HP:0000142	Abnormal vagina morphology	54361	WNT4	ORPHA:247768
HP:0000142	Abnormal vagina morphology	6662	SOX9	ORPHA:251510
HP:0000142	Abnormal vagina morphology	6845	VAMP7	ORPHA:251510
HP:0000142	Abnormal vagina morphology	51741	WWOX	ORPHA:251510
HP:0000142	Abnormal vagina morphology	4214	MAP3K1	ORPHA:251510
HP:0000142	Abnormal vagina morphology	2516	NR5A1	ORPHA:251510
HP:0000142	Abnormal vagina morphology	58524	DMRT3	ORPHA:251510
HP:0000142	Abnormal vagina morphology	57647	DHX37	ORPHA:251510
HP:0000142	Abnormal vagina morphology	6736	SRY	ORPHA:251510
HP:0000142	Abnormal vagina morphology	23414	ZFPM2	ORPHA:251510
HP:0000142	Abnormal vagina morphology	190	NR0B1	ORPHA:251510
HP:0000142	Abnormal vagina morphology	2626	GATA4	ORPHA:251510
HP:0000142	Abnormal vagina morphology	5080	PAX6	OMIM:194072
HP:0000142	Abnormal vagina morphology	219844	HYLS1	OMIM:236680
HP:0000142	Abnormal vagina morphology	50846	DHH	ORPHA:168563
HP:0000142	Abnormal vagina morphology	9361	LONP1	OMIM:600373
HP:0000142	Abnormal vagina morphology	57167	SALL4	OMIM:147750
HP:0000142	Abnormal vagina morphology	57167	SALL4	ORPHA:2307
HP:0000142	Abnormal vagina morphology	92002	CCNQ	OMIM:300707
HP:0000142	Abnormal vagina morphology	8195	MKKS	OMIM:236700
HP:0000142	Abnormal vagina morphology	3588	IL10RB	OMIM:612567
HP:0000142	Abnormal vagina morphology	3110	MNX1	OMIM:176450
HP:0000142	Abnormal vagina morphology	26123	TCTN3	ORPHA:2753
HP:0000142	Abnormal vagina morphology	10653	SPINT2	OMIM:270420
HP:0000142	Abnormal vagina morphology	84172	POLR1B	ORPHA:861
HP:0000142	Abnormal vagina morphology	9533	POLR1C	ORPHA:861
HP:0000142	Abnormal vagina morphology	51082	POLR1D	ORPHA:861
HP:0000142	Abnormal vagina morphology	6949	TCOF1	ORPHA:861
HP:0000142	Abnormal vagina morphology	9401	RECQL4	OMIM:218600
HP:0000142	Abnormal vagina morphology	197131	UBR1	OMIM:243800
HP:0000142	Abnormal vagina morphology	6299	SALL1	OMIM:107480
HP:0000142	Abnormal vagina morphology	6299	SALL1	ORPHA:857
HP:0000142	Abnormal vagina morphology	267010	RNU12	OMIM:603116
HP:0000142	Abnormal vagina morphology	374654	KIF7	OMIM:200990
HP:0000142	Abnormal vagina morphology	51339	DACT1	OMIM:617466
HP:0000142	Abnormal vagina morphology	51339	DACT1	ORPHA:857
HP:0000142	Abnormal vagina morphology	1642	DDB1	OMIM:619426
HP:0000142	Abnormal vagina morphology	3718	JAK3	ORPHA:35078
HP:0000142	Abnormal vagina morphology	158326	FREM1	OMIM:608980
HP:0000142	Abnormal vagina morphology	5297	PI4KA	OMIM:619708
HP:0000142	Abnormal vagina morphology	8626	TP63	OMIM:604292
HP:0000142	Abnormal vagina morphology	8516	ITGA8	OMIM:191830
HP:0000142	Abnormal vagina morphology	9928	KIF14	OMIM:616258
HP:0000142	Abnormal vagina morphology	9928	KIF14	OMIM:617914
HP:0000142	Abnormal vagina morphology	2263	FGFR2	OMIM:207410
HP:0000142	Abnormal vagina morphology	2263	FGFR2	OMIM:101200
HP:0000142	Abnormal vagina morphology	84100	ARL6	OMIM:209900
HP:0000142	Abnormal vagina morphology	79140	CCDC28B	OMIM:209900
HP:0000142	Abnormal vagina morphology	582	BBS1	OMIM:209900
HP:0000142	Abnormal vagina morphology	7473	WNT3	OMIM:273395
HP:0000142	Abnormal vagina morphology	7473	WNT3	ORPHA:3301
HP:0000142	Abnormal vagina morphology	340419	RSPO2	ORPHA:3301
HP:0000142	Abnormal vagina morphology	9839	ZEB2	ORPHA:261537
HP:0000142	Abnormal vagina morphology	9839	ZEB2	ORPHA:261552
HP:0000142	Abnormal vagina morphology	1717	DHCR7	OMIM:270400
HP:0000142	Abnormal vagina morphology	54880	BCOR	OMIM:300166
HP:0000142	Abnormal vagina morphology	2625	GATA3	ORPHA:2237
HP:0000142	Abnormal vagina morphology	2625	GATA3	OMIM:146255
HP:0000142	Abnormal vagina morphology	27152	INTU	OMIM:617925
HP:0000142	Abnormal vagina morphology	5447	POR	OMIM:201750
HP:0000142	Abnormal vagina morphology	7355	SLC35A2	OMIM:300896
HP:0000142	Abnormal vagina morphology	5518	PPP2R1A	ORPHA:457284
HP:0000142	Abnormal vagina morphology	5077	PAX3	OMIM:193500
HP:0000142	Abnormal vagina morphology	6650	CAPN15	OMIM:619318
HP:0000142	Abnormal vagina morphology	55112	DYNC2I1	ORPHA:93271
HP:0000142	Abnormal vagina morphology	57560	IFT80	ORPHA:93271
HP:0000142	Abnormal vagina morphology	57539	WDR35	ORPHA:93271
HP:0000142	Abnormal vagina morphology	79659	DYNC2H1	ORPHA:93271
HP:0000142	Abnormal vagina morphology	89891	DYNC2I2	ORPHA:93271
HP:0000142	Abnormal vagina morphology	1528	CYB5A	ORPHA:90796
HP:0000142	Abnormal vagina morphology	1586	CYP17A1	ORPHA:90796
HP:0000142	Abnormal vagina morphology	1584	CYP11B1	OMIM:202010
HP:0000142	Abnormal vagina morphology	3664	IRF6	OMIM:119500
HP:0000142	Abnormal vagina morphology	145173	B3GLCT	OMIM:261540
HP:0000142	Abnormal vagina morphology	3209	HOXA13	OMIM:140000
HP:0000142	Abnormal vagina morphology	2737	GLI3	ORPHA:672
HP:0000142	Abnormal vagina morphology	1294	COL7A1	ORPHA:79409
HP:0000142	Abnormal vagina morphology	166379	BBS12	OMIM:615989
HP:0000142	Abnormal vagina morphology	51626	DYNC2LI1	OMIM:617088
HP:0000142	Abnormal vagina morphology	54101	RIPK4	ORPHA:1401
HP:0000142	Abnormal vagina morphology	57514	ARHGAP31	OMIM:100300
HP:0000142	Abnormal vagina morphology	6926	TBX3	OMIM:181450
HP:0000142	Abnormal vagina morphology	7750	ZMYM2	OMIM:619522
HP:0000142	Abnormal vagina morphology	5970	RELA	OMIM:618287
HP:0000142	Abnormal vagina morphology	367	AR	ORPHA:90797
HP:0000142	Abnormal vagina morphology	367	AR	OMIM:300068
HP:0000142	Abnormal vagina morphology	367	AR	ORPHA:99429
HP:0000142	Abnormal vagina morphology	10046	MAMLD1	ORPHA:456328
HP:0000142	Abnormal vagina morphology	4534	MTM1	ORPHA:456328
HP:0000142	Abnormal vagina morphology	1281	COL3A1	OMIM:130050
HP:0000142	Abnormal vagina morphology	1281	COL3A1	ORPHA:286
HP:0000142	Abnormal vagina morphology	4088	SMAD3	OMIM:613795
HP:0000142	Abnormal vagina morphology	4665	NAB2	ORPHA:2126
HP:0000142	Abnormal vagina morphology	6778	STAT6	ORPHA:2126
HP:0000142	Abnormal vagina morphology	9184	BUB3	ORPHA:1052
HP:0000142	Abnormal vagina morphology	699	BUB1	ORPHA:1052
HP:0000142	Abnormal vagina morphology	9702	CEP57	ORPHA:1052
HP:0000142	Abnormal vagina morphology	9319	TRIP13	ORPHA:1052
HP:0000142	Abnormal vagina morphology	701	BUB1B	ORPHA:1052
HP:0000142	Abnormal vagina morphology	2271	FH	ORPHA:523
HP:0000142	Abnormal vagina morphology	1288	COL4A6	ORPHA:1018
HP:0000142	Abnormal vagina morphology	1287	COL4A5	ORPHA:1018
HP:0000142	Abnormal vagina morphology	7026	NR2F2	OMIM:618901
HP:0000142	Abnormal vagina morphology	4659	PPP1R12A	OMIM:618820
HP:0000142	Abnormal vagina morphology	1131	CHRM3	ORPHA:2970
HP:0000142	Abnormal vagina morphology	6716	SRD5A2	ORPHA:753
HP:0008651	Uric acid urolithiasis independent of gout	56606	SLC2A9	ORPHA:94088
HP:0008651	Uric acid urolithiasis independent of gout	116085	SLC22A12	ORPHA:94088
HP:0008652	Autonomic erectile dysfunction	27235	COQ2	ORPHA:227510
HP:0008652	Autonomic erectile dysfunction	27235	COQ2	ORPHA:98933
HP:0008652	Autonomic erectile dysfunction	4001	LMNB1	OMIM:169500
HP:0008653	Crescentic glomerulonephritis	1314	COPA	OMIM:616414
HP:0001969	Abnormal tubulointerstitial morphology	6804	STX1A	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	7461	CLIP2	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	84277	DNAJC30	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	8468	FKBP6	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	5982	RFC2	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	2969	GTF2I	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	3984	LIMK1	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	9569	GTF2IRD1	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	155382	VPS37D	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	155368	METTL27	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	114049	BUD23	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	7458	EIF4H	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	84163	GTF2IRD2	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	9275	BCL7B	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	26608	TBL2	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	653361	NCF1	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	135886	TMEM270	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	51085	MLXIPL	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	9031	BAZ1B	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	2006	ELN	ORPHA:904
HP:0001969	Abnormal tubulointerstitial morphology	1497	CTNS	ORPHA:411629
HP:0001969	Abnormal tubulointerstitial morphology	9056	SLC7A7	ORPHA:470
HP:0001969	Abnormal tubulointerstitial morphology	57107	PDSS2	ORPHA:255249
HP:0001969	Abnormal tubulointerstitial morphology	27235	COQ2	ORPHA:255249
HP:0001969	Abnormal tubulointerstitial morphology	10463	SLC30A9	OMIM:617595
HP:0001969	Abnormal tubulointerstitial morphology	11222	MRPL3	OMIM:614582
HP:0001969	Abnormal tubulointerstitial morphology	50943	FOXP3	ORPHA:37042
HP:0001969	Abnormal tubulointerstitial morphology	1801	DPH1	OMIM:616901
HP:0001969	Abnormal tubulointerstitial morphology	1801	DPH1	ORPHA:459061
HP:0001969	Abnormal tubulointerstitial morphology	1376	CPT2	ORPHA:228302
HP:0001969	Abnormal tubulointerstitial morphology	1376	CPT2	ORPHA:228308
HP:0001969	Abnormal tubulointerstitial morphology	2303	FOXC2	ORPHA:33001
HP:0001969	Abnormal tubulointerstitial morphology	26146	TRAF3IP1	OMIM:616629
HP:0001969	Abnormal tubulointerstitial morphology	7840	ALMS1	OMIM:203800
HP:0001969	Abnormal tubulointerstitial morphology	4594	MMUT	OMIM:251000
HP:0001969	Abnormal tubulointerstitial morphology	83480	PUS3	ORPHA:488627
HP:0001969	Abnormal tubulointerstitial morphology	55764	IFT122	OMIM:218330
HP:0001969	Abnormal tubulointerstitial morphology	51134	CEP83	OMIM:615862
HP:0001969	Abnormal tubulointerstitial morphology	4582	MUC1	OMIM:174000
HP:0001969	Abnormal tubulointerstitial morphology	1188	CLCNKB	ORPHA:358
HP:0001969	Abnormal tubulointerstitial morphology	6559	SLC12A3	ORPHA:358
HP:0001969	Abnormal tubulointerstitial morphology	617	BCS1L	OMIM:124000
HP:0001969	Abnormal tubulointerstitial morphology	56244	BTNL2	ORPHA:797
HP:0001969	Abnormal tubulointerstitial morphology	3123	HLA-DRB1	ORPHA:797
HP:0001969	Abnormal tubulointerstitial morphology	22909	FAN1	OMIM:614817
HP:0001969	Abnormal tubulointerstitial morphology	57728	WDR19	OMIM:614376
HP:0001969	Abnormal tubulointerstitial morphology	27130	INVS	OMIM:602088
HP:0001969	Abnormal tubulointerstitial morphology	261734	NPHP4	OMIM:606966
HP:0001969	Abnormal tubulointerstitial morphology	54	ACP5	OMIM:607944
HP:0001969	Abnormal tubulointerstitial morphology	7809	BSND	OMIM:602522
HP:0001969	Abnormal tubulointerstitial morphology	4867	NPHP1	OMIM:266900
HP:0001969	Abnormal tubulointerstitial morphology	4867	NPHP1	OMIM:256100
HP:0001969	Abnormal tubulointerstitial morphology	5972	REN	OMIM:613092
HP:0001969	Abnormal tubulointerstitial morphology	5800	PTPRO	OMIM:614196
HP:0001969	Abnormal tubulointerstitial morphology	5314	PKHD1	OMIM:263200
HP:0001969	Abnormal tubulointerstitial morphology	137682	NDUFAF6	OMIM:618913
HP:0001969	Abnormal tubulointerstitial morphology	2632	GBE1	OMIM:232500
HP:0001969	Abnormal tubulointerstitial morphology	84168	ANTXR1	OMIM:230740
HP:0001969	Abnormal tubulointerstitial morphology	1184	CLCN5	OMIM:310468
HP:0001969	Abnormal tubulointerstitial morphology	27031	NPHP3	OMIM:604387
HP:0001969	Abnormal tubulointerstitial morphology	2542	SLC37A4	ORPHA:79259
HP:0000523	Subcapsular cataract	8322	FZD4	OMIM:133780
HP:0000523	Subcapsular cataract	4041	LRP5	OMIM:133780
HP:0000523	Subcapsular cataract	4041	LRP5	OMIM:601813
HP:0000523	Subcapsular cataract	51099	ABHD5	ORPHA:98907
HP:0000523	Subcapsular cataract	51099	ABHD5	OMIM:275630
HP:0000523	Subcapsular cataract	26090	ABHD12	OMIM:612674
HP:0000523	Subcapsular cataract	10594	PRPF8	OMIM:600059
HP:0000523	Subcapsular cataract	1545	CYP1B1	ORPHA:708
HP:0000523	Subcapsular cataract	2301	FOXE3	ORPHA:708
HP:0000523	Subcapsular cataract	5308	PITX2	ORPHA:708
HP:0000523	Subcapsular cataract	2296	FOXC1	ORPHA:708
HP:0000523	Subcapsular cataract	64132	XYLT2	OMIM:605822
HP:0000523	Subcapsular cataract	346007	EYS	OMIM:602772
HP:0000523	Subcapsular cataract	7287	TULP1	OMIM:600132
HP:0000523	Subcapsular cataract	7287	TULP1	OMIM:613843
HP:0000523	Subcapsular cataract	7840	ALMS1	ORPHA:64
HP:0000523	Subcapsular cataract	2703	GJA8	OMIM:116200
HP:0000523	Subcapsular cataract	84265	POLR3GL	OMIM:619234
HP:0000523	Subcapsular cataract	5949	RBP3	OMIM:615233
HP:0000523	Subcapsular cataract	83932	SPRTN	OMIM:616200
HP:0000523	Subcapsular cataract	79797	ZNF408	OMIM:616469
HP:0000523	Subcapsular cataract	23568	ARL2BP	OMIM:615434
HP:0000523	Subcapsular cataract	10002	NR2E3	OMIM:611131
HP:0000523	Subcapsular cataract	170692	ADAMTS18	OMIM:615458
HP:0000523	Subcapsular cataract	5145	PDE6A	OMIM:613810
HP:0000523	Subcapsular cataract	4942	OAT	OMIM:258870
HP:0000523	Subcapsular cataract	4796	TONSL	OMIM:271510
HP:0000523	Subcapsular cataract	3614	IMPDH1	OMIM:180105
HP:0000523	Subcapsular cataract	49855	SCAPER	OMIM:618195
HP:0000523	Subcapsular cataract	403	ARL3	OMIM:618173
HP:0000523	Subcapsular cataract	7555	CNBP	OMIM:602668
HP:0000523	Subcapsular cataract	9227	LRAT	ORPHA:364055
HP:0000523	Subcapsular cataract	55812	SPATA7	ORPHA:364055
HP:0000523	Subcapsular cataract	6121	RPE65	ORPHA:364055
HP:0000523	Subcapsular cataract	167691	LCA5	ORPHA:364055
HP:0000523	Subcapsular cataract	8481	OFD1	OMIM:300424
HP:0000523	Subcapsular cataract	50939	IMPG2	OMIM:613581
HP:0000523	Subcapsular cataract	755	CFAP410	OMIM:617547
HP:0000523	Subcapsular cataract	3420	IDH3B	OMIM:612572
HP:0000523	Subcapsular cataract	24148	PRPF6	OMIM:613983
HP:0000523	Subcapsular cataract	92840	REEP6	OMIM:617304
HP:0000523	Subcapsular cataract	146862	UNC45B	OMIM:616279
HP:0000523	Subcapsular cataract	4771	NF2	OMIM:101000
HP:0000523	Subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0000523	Subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0000523	Subcapsular cataract	7490	WT1	OMIM:106210
HP:0000523	Subcapsular cataract	5080	PAX6	OMIM:106210
HP:0001491	Congenital fibrosis of extraocular muscles	347733	TUBB2B	OMIM:610031
HP:0001491	Congenital fibrosis of extraocular muscles	10381	TUBB3	ORPHA:300570
HP:0001491	Congenital fibrosis of extraocular muscles	10381	TUBB3	OMIM:600638
HP:0001491	Congenital fibrosis of extraocular muscles	401	PHOX2A	OMIM:602078
HP:0001491	Congenital fibrosis of extraocular muscles	55605	KIF21A	OMIM:135700
HP:0001491	Congenital fibrosis of extraocular muscles	84570	COL25A1	ORPHA:91411
HP:0001491	Congenital fibrosis of extraocular muscles	79776	ZFHX4	ORPHA:91411
HP:0001492	Axenfeld anomaly	9839	ZEB2	ORPHA:261537
HP:0001492	Axenfeld anomaly	9839	ZEB2	ORPHA:261552
HP:0001492	Axenfeld anomaly	182	JAG1	OMIM:118450
HP:0001492	Axenfeld anomaly	2296	FOXC1	OMIM:601631
HP:0001492	Axenfeld anomaly	146167	SLC38A8	OMIM:609218
HP:0001495	Carpal osteolysis	4313	MMP2	ORPHA:371428
HP:0001495	Carpal osteolysis	4313	MMP2	OMIM:259600
HP:0001495	Carpal osteolysis	4323	MMP14	ORPHA:371428
HP:0001495	Carpal osteolysis	4323	MMP14	OMIM:277950
HP:0001495	Carpal osteolysis	9935	MAFB	OMIM:166300
HP:0001495	Carpal osteolysis	9935	MAFB	ORPHA:2774
HP:0001500	Broad finger	2317	FLNB	OMIM:150250
HP:0001500	Broad finger	4810	NHS	OMIM:302350
HP:0001500	Broad finger	4882	NPR2	OMIM:602875
HP:0001500	Broad finger	6197	RPS6KA3	ORPHA:192
HP:0001500	Broad finger	1499	CTNNB1	OMIM:615075
HP:0001500	Broad finger	9578	CDC42BPB	OMIM:619841
HP:0001500	Broad finger	9181	ARHGEF2	OMIM:617523
HP:0001500	Broad finger	93627	TBCK	ORPHA:488632
HP:0001500	Broad finger	93627	TBCK	OMIM:616900
HP:0001500	Broad finger	3248	HPGD	ORPHA:217059
HP:0001500	Broad finger	5593	PRKG2	OMIM:619636
HP:0001500	Broad finger	6792	CDKL5	ORPHA:1934
HP:0001500	Broad finger	3736	KCNA1	ORPHA:1934
HP:0001500	Broad finger	9091	PIGQ	ORPHA:1934
HP:0001500	Broad finger	2775	GNAO1	ORPHA:1934
HP:0001500	Broad finger	81603	TRIM8	ORPHA:1934
HP:0001500	Broad finger	2902	GRIN1	ORPHA:1934
HP:0001500	Broad finger	79751	SLC25A22	ORPHA:1934
HP:0001500	Broad finger	150094	SIK1	ORPHA:1934
HP:0001500	Broad finger	8573	CASK	ORPHA:1934
HP:0001500	Broad finger	23312	DMXL2	ORPHA:1934
HP:0001500	Broad finger	2917	GRM7	ORPHA:1934
HP:0001500	Broad finger	170302	ARX	ORPHA:1934
HP:0001500	Broad finger	11284	PNKP	ORPHA:1934
HP:0001500	Broad finger	6326	SCN2A	ORPHA:1934
HP:0001500	Broad finger	51227	PIGP	ORPHA:1934
HP:0001500	Broad finger	6324	SCN1B	ORPHA:1934
HP:0001500	Broad finger	4761	NEUROD2	ORPHA:1934
HP:0001500	Broad finger	64135	IFIH1	OMIM:182250
HP:0001500	Broad finger	7700	ZNF141	OMIM:615226
HP:0001500	Broad finger	2316	FLNA	OMIM:311300
HP:0001500	Broad finger	2263	FGFR2	OMIM:101200
HP:0001500	Broad finger	3239	HOXD13	OMIM:113200
HP:0001500	Broad finger	2137	EXTL3	ORPHA:508533
HP:0001500	Broad finger	2200	FBN1	OMIM:608328
HP:0001500	Broad finger	81794	ADAMTS10	OMIM:277600
HP:0001500	Broad finger	9949	AMMECR1	OMIM:300990
HP:0001500	Broad finger	9653	HS2ST1	OMIM:619194
HP:0001500	Broad finger	3835	KIF22	OMIM:603546
HP:0001500	Broad finger	100151683	RNU4ATAC	ORPHA:2636
HP:0001500	Broad finger	126792	B3GALT6	OMIM:609465
HP:0001500	Broad finger	126792	B3GALT6	OMIM:271640
HP:0001500	Broad finger	55209	SETD5	ORPHA:404440
HP:0001500	Broad finger	55209	SETD5	OMIM:615761
HP:0001500	Broad finger	57459	GATAD2B	ORPHA:363686
HP:0001500	Broad finger	6595	SMARCA2	OMIM:601358
HP:0001500	Broad finger	6595	SMARCA2	ORPHA:3051
HP:0001500	Broad finger	633	BGN	OMIM:300989
HP:0001500	Broad finger	57728	WDR19	OMIM:614378
HP:0001500	Broad finger	79971	WLS	OMIM:619648
HP:0001500	Broad finger	388015	RTL1	ORPHA:96334
HP:0001500	Broad finger	8788	DLK1	ORPHA:96334
HP:0001500	Broad finger	55384	MEG3	ORPHA:96334
HP:0001500	Broad finger	25871	NEPRO	OMIM:618853
HP:0001500	Broad finger	1300	COL10A1	OMIM:156500
HP:0001500	Broad finger	5293	PIK3CD	ORPHA:221139
HP:0001500	Broad finger	90417	KNSTRN	ORPHA:221139
HP:0001500	Broad finger	9469	CHST3	OMIM:245600
HP:0001500	Broad finger	26229	B3GAT3	OMIM:245600
HP:0001500	Broad finger	55764	IFT122	OMIM:218330
HP:0001500	Broad finger	2778	GNAS	ORPHA:79443
HP:0001500	Broad finger	7291	TWIST1	ORPHA:794
HP:0001500	Broad finger	7291	TWIST1	OMIM:180750
HP:0001500	Broad finger	2261	FGFR3	ORPHA:794
HP:0001500	Broad finger	2261	FGFR3	OMIM:602849
HP:0001500	Broad finger	1280	COL2A1	OMIM:271700
HP:0001500	Broad finger	2737	GLI3	ORPHA:672
HP:0001500	Broad finger	2737	GLI3	ORPHA:380
HP:0001500	Broad finger	2737	GLI3	OMIM:175700
HP:0001500	Broad finger	2737	GLI3	OMIM:174200
HP:0001500	Broad finger	22827	PUF60	ORPHA:508498
HP:0001500	Broad finger	23394	ADNP	ORPHA:404448
HP:0001500	Broad finger	6910	TBX5	ORPHA:392
HP:0001500	Broad finger	6477	SIAH1	OMIM:619314
HP:0001500	Broad finger	10059	DNM1L	OMIM:614388
HP:0001500	Broad finger	6885	MAP3K7	OMIM:617137
HP:0001500	Broad finger	6885	MAP3K7	ORPHA:1826
HP:0001500	Broad finger	23314	SATB2	ORPHA:251028
HP:0001500	Broad finger	23314	SATB2	ORPHA:251019
HP:0001500	Broad finger	23314	SATB2	ORPHA:576283
HP:0001500	Broad finger	9241	NOG	OMIM:184460
HP:0001500	Broad finger	9241	NOG	ORPHA:3237
HP:0001500	Broad finger	6299	SALL1	OMIM:107480
HP:0001500	Broad finger	6299	SALL1	ORPHA:857
HP:0001500	Broad finger	10847	SRCAP	OMIM:136140
HP:0001500	Broad finger	1387	CREBBP	ORPHA:353281
HP:0001500	Broad finger	1387	CREBBP	OMIM:180849
HP:0001500	Broad finger	1387	CREBBP	ORPHA:353277
HP:0001500	Broad finger	650	BMP2	ORPHA:261295
HP:0001500	Broad finger	3020	H3-3A	OMIM:619720
HP:0001500	Broad finger	29998	BICRA	OMIM:619325
HP:0001500	Broad finger	3021	H3-3B	OMIM:619721
HP:0001500	Broad finger	4920	ROR2	OMIM:113000
HP:0001500	Broad finger	4920	ROR2	ORPHA:1507
HP:0001500	Broad finger	4920	ROR2	OMIM:268310
HP:0001500	Broad finger	1855	DVL1	OMIM:616331
HP:0001500	Broad finger	1855	DVL1	OMIM:180700
HP:0001500	Broad finger	8239	USP9X	OMIM:300919
HP:0001500	Broad finger	2033	EP300	ORPHA:353284
HP:0001500	Broad finger	2033	EP300	OMIM:180849
HP:0001500	Broad finger	2033	EP300	OMIM:613684
HP:0001500	Broad finger	176	ACAN	OMIM:612813
HP:0001500	Broad finger	176	ACAN	ORPHA:171866
HP:0001500	Broad finger	2239	GPC4	OMIM:301026
HP:0001500	Broad finger	2239	GPC4	ORPHA:2662
HP:0001500	Broad finger	2239	GPC4	ORPHA:373
HP:0001500	Broad finger	2239	GPC4	OMIM:312870
HP:0001500	Broad finger	51132	RLIM	OMIM:300978
HP:0001500	Broad finger	64359	NXN	OMIM:618529
HP:0001500	Broad finger	64359	NXN	ORPHA:1507
HP:0001500	Broad finger	92579	G6PC3	OMIM:612541
HP:0001500	Broad finger	64131	XYLT1	OMIM:615777
HP:0001500	Broad finger	64131	XYLT1	ORPHA:370930
HP:0001500	Broad finger	29920	PYCR2	ORPHA:481152
HP:0001500	Broad finger	2260	FGFR1	ORPHA:93258
HP:0001500	Broad finger	2260	FGFR1	OMIM:166250
HP:0001500	Broad finger	2260	FGFR1	OMIM:101600
HP:0001500	Broad finger	64093	SMOC1	ORPHA:1106
HP:0001500	Broad finger	2626	GATA4	ORPHA:251071
HP:0001500	Broad finger	8726	EED	OMIM:617561
HP:0001500	Broad finger	8726	EED	ORPHA:3447
HP:0001500	Broad finger	5718	PSMD12	ORPHA:529962
HP:0001500	Broad finger	2186	BPTF	ORPHA:529962
HP:0001500	Broad finger	4212	MEIS2	OMIM:600987
HP:0001500	Broad finger	1954	MEGF8	OMIM:614976
HP:0001500	Broad finger	1954	MEGF8	ORPHA:65759
HP:0001500	Broad finger	51715	RAB23	ORPHA:65759
HP:0001500	Broad finger	5728	PTEN	ORPHA:79076
HP:0001500	Broad finger	5728	PTEN	ORPHA:109
HP:0001500	Broad finger	657	BMPR1A	ORPHA:79076
HP:0001500	Broad finger	8200	GDF5	ORPHA:3237
HP:0001500	Broad finger	2254	FGF9	ORPHA:3237
HP:0001500	Broad finger	2254	FGF9	OMIM:612961
HP:0001500	Broad finger	3981	LIG4	ORPHA:235
HP:0001500	Broad finger	54888	NSUN2	ORPHA:235
HP:0001500	Broad finger	6608	SMO	OMIM:601707
HP:0001500	Broad finger	6608	SMO	ORPHA:1553
HP:0001500	Broad finger	23126	POGZ	OMIM:616364
HP:0001500	Broad finger	51633	OTUD6B	OMIM:617452
HP:0001500	Broad finger	51633	OTUD6B	ORPHA:505237
HP:0001500	Broad finger	79753	SNIP1	OMIM:614501
HP:0001500	Broad finger	9968	MED12	OMIM:309520
HP:0001500	Broad finger	9968	MED12	OMIM:305450
HP:0001500	Broad finger	80036	TRPM3	OMIM:620224
HP:0001500	Broad finger	285362	SUMF1	OMIM:272200
HP:0001500	Broad finger	285362	SUMF1	ORPHA:585
HP:0001500	Broad finger	79759	ZNF668	OMIM:620194
HP:0001500	Broad finger	10236	HNRNPR	OMIM:620073
HP:0001500	Broad finger	284252	KCTD1	OMIM:181270
HP:0001500	Broad finger	1857	DVL3	OMIM:616894
HP:0001500	Broad finger	8481	OFD1	OMIM:300209
HP:0001500	Broad finger	56098	PCDHGC4	OMIM:619880
HP:0001500	Broad finger	51339	DACT1	ORPHA:857
HP:0001500	Broad finger	3756	KCNH1	ORPHA:420561
HP:0001500	Broad finger	3756	KCNH1	OMIM:611816
HP:0001500	Broad finger	2719	GPC3	ORPHA:373
HP:0001500	Broad finger	2719	GPC3	OMIM:312870
HP:0001500	Broad finger	4123	MAN2C1	OMIM:619775
HP:0001500	Broad finger	4488	MSX2	ORPHA:60015
HP:0001500	Broad finger	60529	ALX4	ORPHA:60015
HP:0001500	Broad finger	79989	IFT56	OMIM:619534
HP:0001500	Broad finger	2146	EZH2	OMIM:277590
HP:0001500	Broad finger	2146	EZH2	ORPHA:3447
HP:0001500	Broad finger	9939	RBM8A	ORPHA:3320
HP:0001500	Broad finger	9939	RBM8A	OMIM:274000
HP:0001500	Broad finger	7474	WNT5A	OMIM:180700
HP:0001500	Broad finger	64324	NSD1	ORPHA:3447
HP:0001500	Broad finger	23512	SUZ12	ORPHA:3447
HP:0001500	Broad finger	23404	EXOSC2	OMIM:617763
HP:0001500	Broad finger	5587	PRKD1	OMIM:617364
HP:0001500	Broad finger	2702	GJA5	OMIM:612474
HP:0001500	Broad finger	2703	GJA8	OMIM:612474
HP:0001500	Broad finger	3636	INPPL1	ORPHA:2746
HP:0001500	Broad finger	55690	PACS1	ORPHA:329224
HP:0001500	Broad finger	22907	DHX30	OMIM:617804
HP:0001500	Broad finger	865	CBFB	OMIM:620099
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	367	AR	ORPHA:99429
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	80067	DCAF17	OMIM:241080
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	80067	DCAF17	ORPHA:3464
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	7473	WNT3	OMIM:273395
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	50846	DHH	OMIM:233420
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	54361	WNT4	OMIM:158330
HP:0000119	Abnormality of the genitourinary system	151188	ARL6IP6	ORPHA:1556
HP:0000119	Abnormality of the genitourinary system	139285	AMER1	OMIM:300373
HP:0000119	Abnormality of the genitourinary system	3978	LIG1	OMIM:619774
HP:0000119	Abnormality of the genitourinary system	6911	TBX6	ORPHA:1797
HP:0000119	Abnormality of the genitourinary system	4860	PNP	OMIM:613179
HP:0000119	Abnormality of the genitourinary system	113235	SLC46A1	ORPHA:90045
HP:0000119	Abnormality of the genitourinary system	4125	MAN2B1	ORPHA:309282
HP:0000119	Abnormality of the genitourinary system	613	BCR	ORPHA:261330
HP:0000119	Abnormality of the genitourinary system	1399	CRKL	ORPHA:261330
HP:0000119	Abnormality of the genitourinary system	4478	MSN	OMIM:300988
HP:0000119	Abnormality of the genitourinary system	3560	IL2RB	OMIM:618495
HP:0000119	Abnormality of the genitourinary system	84818	IL17RC	ORPHA:1334
HP:0000119	Abnormality of the genitourinary system	64581	CLEC7A	ORPHA:1334
HP:0000119	Abnormality of the genitourinary system	23765	IL17RA	ORPHA:1334
HP:0000119	Abnormality of the genitourinary system	10758	TRAF3IP2	ORPHA:1334
HP:0000119	Abnormality of the genitourinary system	112744	IL17F	ORPHA:1334
HP:0000119	Abnormality of the genitourinary system	1380	CR2	OMIM:614699
HP:0000119	Abnormality of the genitourinary system	6304	SATB1	OMIM:619229
HP:0000119	Abnormality of the genitourinary system	8883	NAE1	OMIM:620210
HP:0000119	Abnormality of the genitourinary system	84265	POLR3GL	OMIM:619234
HP:0000119	Abnormality of the genitourinary system	4261	CIITA	OMIM:209920
HP:0000119	Abnormality of the genitourinary system	5994	RFXAP	OMIM:209920
HP:0000119	Abnormality of the genitourinary system	5993	RFX5	OMIM:209920
HP:0000119	Abnormality of the genitourinary system	8625	RFXANK	OMIM:209920
HP:0000119	Abnormality of the genitourinary system	8936	WASF1	OMIM:618707
HP:0000119	Abnormality of the genitourinary system	5971	RELB	OMIM:617585
HP:0000119	Abnormality of the genitourinary system	5294	PIK3CG	OMIM:619802
HP:0000119	Abnormality of the genitourinary system	55343	SLC35C1	ORPHA:99843
HP:0000119	Abnormality of the genitourinary system	92935	MARS2	OMIM:611390
HP:0000119	Abnormality of the genitourinary system	55823	VPS11	OMIM:616683
HP:0000119	Abnormality of the genitourinary system	55823	VPS11	ORPHA:466934
HP:0000119	Abnormality of the genitourinary system	400916	CHCHD10	OMIM:615911
HP:0000119	Abnormality of the genitourinary system	4287	ATXN3	ORPHA:276244
HP:0000119	Abnormality of the genitourinary system	4287	ATXN3	ORPHA:276241
HP:0000119	Abnormality of the genitourinary system	4287	ATXN3	ORPHA:276238
HP:0000119	Abnormality of the genitourinary system	51112	TRAPPC12	ORPHA:500144
HP:0000119	Abnormality of the genitourinary system	51112	TRAPPC12	OMIM:617669
HP:0000119	Abnormality of the genitourinary system	2050	EPHB4	ORPHA:137667
HP:0000119	Abnormality of the genitourinary system	23499	MACF1	ORPHA:572013
HP:0000119	Abnormality of the genitourinary system	387119	CEP85L	ORPHA:572013
HP:0000119	Abnormality of the genitourinary system	1185	CLCN6	OMIM:619173
HP:0000119	Abnormality of the genitourinary system	64834	ELOVL1	OMIM:618527
HP:0000119	Abnormality of the genitourinary system	123263	MTFMT	OMIM:618248
HP:0000119	Abnormality of the genitourinary system	2019	EN1	OMIM:619218
HP:0000119	Abnormality of the genitourinary system	25793	FBXO7	ORPHA:171695
HP:0000119	Abnormality of the genitourinary system	55331	ACER3	OMIM:617762
HP:0000119	Abnormality of the genitourinary system	87178	PNPT1	ORPHA:101111
HP:0000119	Abnormality of the genitourinary system	87178	PNPT1	OMIM:608703
HP:0000119	Abnormality of the genitourinary system	478	ATP1A3	OMIM:601338
HP:0000119	Abnormality of the genitourinary system	9442	MED27	OMIM:619286
HP:0000119	Abnormality of the genitourinary system	27102	EIF2AK1	OMIM:618878
HP:0000119	Abnormality of the genitourinary system	3839	KPNA3	ORPHA:171612
HP:0000119	Abnormality of the genitourinary system	84842	HPDL	OMIM:619027
HP:0000119	Abnormality of the genitourinary system	65055	REEP1	OMIM:610250
HP:0000119	Abnormality of the genitourinary system	1200	TPP1	OMIM:609270
HP:0000119	Abnormality of the genitourinary system	2747	GLUD2	OMIM:168600
HP:0000119	Abnormality of the genitourinary system	126	ADH1C	OMIM:168600
HP:0000119	Abnormality of the genitourinary system	4137	MAPT	OMIM:168600
HP:0000119	Abnormality of the genitourinary system	4929	NR4A2	OMIM:168600
HP:0000119	Abnormality of the genitourinary system	9627	SNCAIP	OMIM:168600
HP:0000119	Abnormality of the genitourinary system	128	ADH5	OMIM:619151
HP:0000119	Abnormality of the genitourinary system	2099	ESR1	ORPHA:785
HP:0000119	Abnormality of the genitourinary system	2099	ESR1	OMIM:615363
HP:0000119	Abnormality of the genitourinary system	51199	NIN	OMIM:614851
HP:0000119	Abnormality of the genitourinary system	595	CCND1	ORPHA:29073
HP:0000119	Abnormality of the genitourinary system	11160	ERLIN2	ORPHA:247604
HP:0000119	Abnormality of the genitourinary system	1277	COL1A1	ORPHA:287
HP:0000119	Abnormality of the genitourinary system	1289	COL5A1	ORPHA:287
HP:0000119	Abnormality of the genitourinary system	1290	COL5A2	ORPHA:287
HP:0000119	Abnormality of the genitourinary system	538	ATP7A	ORPHA:565
HP:0000119	Abnormality of the genitourinary system	538	ATP7A	ORPHA:198
HP:0000119	Abnormality of the genitourinary system	538	ATP7A	OMIM:304150
HP:0000119	Abnormality of the genitourinary system	5351	PLOD1	OMIM:225400
HP:0000119	Abnormality of the genitourinary system	1278	COL1A2	OMIM:617821
HP:0000119	Abnormality of the genitourinary system	55033	FKBP14	OMIM:614557
HP:0000119	Abnormality of the genitourinary system	816	CAMK2B	OMIM:617799
HP:0000119	Abnormality of the genitourinary system	100134444	KCNJ18	ORPHA:79102
HP:0000119	Abnormality of the genitourinary system	2556	GABRA3	ORPHA:79102
HP:0000119	Abnormality of the genitourinary system	779	CACNA1S	ORPHA:79102
HP:0000119	Abnormality of the genitourinary system	3431	SP110	ORPHA:79124
HP:0000119	Abnormality of the genitourinary system	7040	TGFB1	ORPHA:1328
HP:0000119	Abnormality of the genitourinary system	5621	PRNP	OMIM:600072
HP:0000119	Abnormality of the genitourinary system	4665	NAB2	ORPHA:2126
HP:0000119	Abnormality of the genitourinary system	6778	STAT6	ORPHA:2126
HP:0000119	Abnormality of the genitourinary system	4001	LMNB1	ORPHA:99027
HP:0000119	Abnormality of the genitourinary system	291	SLC25A4	ORPHA:254892
HP:0000119	Abnormality of the genitourinary system	56652	TWNK	ORPHA:254892
HP:0000119	Abnormality of the genitourinary system	11232	POLG2	ORPHA:254892
HP:0000119	Abnormality of the genitourinary system	8398	PLA2G6	OMIM:612953
HP:0000119	Abnormality of the genitourinary system	1621	DBH	ORPHA:230
HP:0000119	Abnormality of the genitourinary system	1621	DBH	OMIM:223360
HP:0000119	Abnormality of the genitourinary system	55906	ZC4H2	OMIM:301041
HP:0000119	Abnormality of the genitourinary system	6513	SLC2A1	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	2562	GABRB3	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	2554	GABRA1	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	8912	CACNA1H	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	8629	JRK	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	2566	GABRG2	ORPHA:64280
HP:0000119	Abnormality of the genitourinary system	23394	ADNP	ORPHA:404448
HP:0000119	Abnormality of the genitourinary system	23345	SYNE1	ORPHA:88644
HP:0000119	Abnormality of the genitourinary system	123606	NIPA1	ORPHA:100988
HP:0000119	Abnormality of the genitourinary system	123606	NIPA1	OMIM:600363
HP:0000119	Abnormality of the genitourinary system	23446	SLC44A1	OMIM:618868
HP:0000119	Abnormality of the genitourinary system	59341	TRPV4	OMIM:606071
HP:0000119	Abnormality of the genitourinary system	22880	MORC2	OMIM:616688
HP:0000119	Abnormality of the genitourinary system	22880	MORC2	ORPHA:466768
HP:0000119	Abnormality of the genitourinary system	57704	GBA2	ORPHA:352641
HP:0000119	Abnormality of the genitourinary system	57704	GBA2	ORPHA:320391
HP:0000119	Abnormality of the genitourinary system	57704	GBA2	OMIM:614409
HP:0000119	Abnormality of the genitourinary system	1786	DNMT1	ORPHA:314404
HP:0000119	Abnormality of the genitourinary system	4803	NGF	OMIM:608654
HP:0000119	Abnormality of the genitourinary system	57216	VANGL2	OMIM:182940
HP:0000119	Abnormality of the genitourinary system	6347	CCL2	OMIM:182940
HP:0000119	Abnormality of the genitourinary system	6862	TBXT	OMIM:182940
HP:0000119	Abnormality of the genitourinary system	274	BIN1	ORPHA:169189
HP:0000119	Abnormality of the genitourinary system	64419	MTMR14	ORPHA:169189
HP:0000119	Abnormality of the genitourinary system	4618	MYF6	ORPHA:169189
HP:0000119	Abnormality of the genitourinary system	1785	DNM2	ORPHA:169189
HP:0000119	Abnormality of the genitourinary system	5660	PSAP	OMIM:249900
HP:0000119	Abnormality of the genitourinary system	5660	PSAP	ORPHA:309271
HP:0000119	Abnormality of the genitourinary system	5660	PSAP	ORPHA:309263
HP:0000119	Abnormality of the genitourinary system	5660	PSAP	ORPHA:309256
HP:0000119	Abnormality of the genitourinary system	3074	HEXB	ORPHA:309162
HP:0000119	Abnormality of the genitourinary system	3074	HEXB	OMIM:268800
HP:0000119	Abnormality of the genitourinary system	10479	SLC9A6	OMIM:300243
HP:0000119	Abnormality of the genitourinary system	81790	RNF170	OMIM:619686
HP:0000119	Abnormality of the genitourinary system	25814	ATXN10	OMIM:603516
HP:0000119	Abnormality of the genitourinary system	6311	ATXN2	OMIM:183090
HP:0000119	Abnormality of the genitourinary system	6335	SCN9A	OMIM:243000
HP:0000119	Abnormality of the genitourinary system	8878	SQSTM1	OMIM:617145
HP:0000119	Abnormality of the genitourinary system	5610	EIF2AK2	OMIM:618877
HP:0000119	Abnormality of the genitourinary system	128486	FITM2	OMIM:618635
HP:0000119	Abnormality of the genitourinary system	2581	GALC	ORPHA:206448
HP:0000119	Abnormality of the genitourinary system	3508	IGHMBP2	OMIM:604320
HP:0000119	Abnormality of the genitourinary system	100996717	NOTCH2NLC	OMIM:603472
HP:0000119	Abnormality of the genitourinary system	6904	TBCD	ORPHA:496641
HP:0000119	Abnormality of the genitourinary system	6904	TBCD	OMIM:617193
HP:0000119	Abnormality of the genitourinary system	90161	HS6ST2	OMIM:301025
HP:0000119	Abnormality of the genitourinary system	410	ARSA	ORPHA:309271
HP:0000119	Abnormality of the genitourinary system	410	ARSA	ORPHA:309263
HP:0000119	Abnormality of the genitourinary system	410	ARSA	ORPHA:309256
HP:0000119	Abnormality of the genitourinary system	410	ARSA	OMIM:250100
HP:0000119	Abnormality of the genitourinary system	2590	GALNT2	OMIM:618885
HP:0000119	Abnormality of the genitourinary system	5832	ALDH18A1	OMIM:616586
HP:0000119	Abnormality of the genitourinary system	5832	ALDH18A1	OMIM:601162
HP:0000119	Abnormality of the genitourinary system	5832	ALDH18A1	ORPHA:447753
HP:0000119	Abnormality of the genitourinary system	51319	RSRC1	OMIM:618402
HP:0000119	Abnormality of the genitourinary system	54463	RETREG1	OMIM:613115
HP:0000119	Abnormality of the genitourinary system	6575	SLC20A2	OMIM:213600
HP:0000119	Abnormality of the genitourinary system	549	AUH	OMIM:250950
HP:0000119	Abnormality of the genitourinary system	80208	SPG11	OMIM:602099
HP:0000119	Abnormality of the genitourinary system	80208	SPG11	ORPHA:300605
HP:0000119	Abnormality of the genitourinary system	80208	SPG11	OMIM:604360
HP:0000119	Abnormality of the genitourinary system	7276	TTR	OMIM:105210
HP:0000119	Abnormality of the genitourinary system	823	CAPN1	OMIM:616907
HP:0000119	Abnormality of the genitourinary system	10273	STUB1	OMIM:618093
HP:0000119	Abnormality of the genitourinary system	2632	GBE1	ORPHA:206583
HP:0000119	Abnormality of the genitourinary system	2632	GBE1	OMIM:263570
HP:0000119	Abnormality of the genitourinary system	1137	CHRNA4	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	1135	CHRNA2	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	57010	CABP4	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	1141	CHRNB2	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	57582	KCNT1	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	1392	CRH	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	9681	DEPDC5	ORPHA:98784
HP:0000119	Abnormality of the genitourinary system	57531	HACE1	ORPHA:464282
HP:0000119	Abnormality of the genitourinary system	6687	SPG7	OMIM:607259
HP:0000119	Abnormality of the genitourinary system	26278	SACS	ORPHA:98
HP:0000119	Abnormality of the genitourinary system	23400	ATP13A2	ORPHA:306674
HP:0000119	Abnormality of the genitourinary system	9907	AP5Z1	OMIM:613647
HP:0000119	Abnormality of the genitourinary system	9907	AP5Z1	ORPHA:306511
HP:0000119	Abnormality of the genitourinary system	79152	FA2H	OMIM:612319
HP:0000119	Abnormality of the genitourinary system	79152	FA2H	ORPHA:171629
HP:0000119	Abnormality of the genitourinary system	4747	NEFL	ORPHA:101085
HP:0000119	Abnormality of the genitourinary system	6908	TBP	OMIM:607136
HP:0000119	Abnormality of the genitourinary system	28982	FLVCR1	OMIM:609033
HP:0000119	Abnormality of the genitourinary system	3752	KCND3	ORPHA:98772
HP:0000119	Abnormality of the genitourinary system	56978	PRDM8	OMIM:616640
HP:0000119	Abnormality of the genitourinary system	23259	DDHD2	OMIM:615033
HP:0000119	Abnormality of the genitourinary system	2548	GAA	OMIM:232300
HP:0000119	Abnormality of the genitourinary system	3748	KCNC3	ORPHA:98768
HP:0000119	Abnormality of the genitourinary system	80025	PANK2	OMIM:234200
HP:0000119	Abnormality of the genitourinary system	724066	ATXN8	ORPHA:98760
HP:0000119	Abnormality of the genitourinary system	6315	ATXN8OS	ORPHA:98760
HP:0000119	Abnormality of the genitourinary system	23503	ZFYVE26	OMIM:270700
HP:0000119	Abnormality of the genitourinary system	51611	DPH5	OMIM:620070
HP:0000119	Abnormality of the genitourinary system	283446	MYO1H	OMIM:619482
HP:0000119	Abnormality of the genitourinary system	2521	FUS	ORPHA:300605
HP:0000119	Abnormality of the genitourinary system	10280	SIGMAR1	ORPHA:300605
HP:0000119	Abnormality of the genitourinary system	10558	SPTLC1	ORPHA:300605
HP:0000119	Abnormality of the genitourinary system	57679	ALS2	ORPHA:300605
HP:0000119	Abnormality of the genitourinary system	57679	ALS2	OMIM:205100
HP:0000119	Abnormality of the genitourinary system	57679	ALS2	OMIM:607225
HP:0000119	Abnormality of the genitourinary system	6305	SBF1	OMIM:615284
HP:0000119	Abnormality of the genitourinary system	7204	TRIO	ORPHA:476126
HP:0000119	Abnormality of the genitourinary system	25978	CHMP2B	OMIM:600795
HP:0000119	Abnormality of the genitourinary system	8913	CACNA1G	ORPHA:458803
HP:0000119	Abnormality of the genitourinary system	8913	CACNA1G	OMIM:616795
HP:0000119	Abnormality of the genitourinary system	339855	KY	OMIM:617114
HP:0000119	Abnormality of the genitourinary system	1315	COPB1	OMIM:619255
HP:0000119	Abnormality of the genitourinary system	7415	VCP	ORPHA:329478
HP:0000119	Abnormality of the genitourinary system	22943	DKK1	ORPHA:268882
HP:0000119	Abnormality of the genitourinary system	2678	GGT1	OMIM:231950
HP:0000119	Abnormality of the genitourinary system	3329	HSPD1	OMIM:605280
HP:0000119	Abnormality of the genitourinary system	3329	HSPD1	ORPHA:100994
HP:0000119	Abnormality of the genitourinary system	9757	KMT2B	OMIM:619934
HP:0000119	Abnormality of the genitourinary system	6683	SPAST	OMIM:182601
HP:0000119	Abnormality of the genitourinary system	51062	ATL1	OMIM:182600
HP:0000119	Abnormality of the genitourinary system	6509	SLC1A4	ORPHA:447997
HP:0000119	Abnormality of the genitourinary system	84188	FAR1	ORPHA:447753
HP:0000119	Abnormality of the genitourinary system	84978	FRMD5	OMIM:620094
HP:0000119	Abnormality of the genitourinary system	5654	HTRA1	OMIM:600142
HP:0000119	Abnormality of the genitourinary system	126129	CPT1C	ORPHA:444099
HP:0000119	Abnormality of the genitourinary system	80217	CFAP43	OMIM:236690
HP:0000119	Abnormality of the genitourinary system	7305	TYROBP	OMIM:221770
HP:0000119	Abnormality of the genitourinary system	57165	GJC2	OMIM:613206
HP:0000119	Abnormality of the genitourinary system	3798	KIF5A	OMIM:604187
HP:0000119	Abnormality of the genitourinary system	55081	IFT57	OMIM:617927
HP:0000119	Abnormality of the genitourinary system	3119	HLA-DQB1	OMIM:126200
HP:0000119	Abnormality of the genitourinary system	5133	PDCD1	OMIM:126200
HP:0000119	Abnormality of the genitourinary system	10398	MYL9	OMIM:619365
HP:0000119	Abnormality of the genitourinary system	695	BTK	OMIM:300755
HP:0000119	Abnormality of the genitourinary system	695	BTK	OMIM:307200
HP:0000119	Abnormality of the genitourinary system	326	AIRE	OMIM:240300
HP:0000119	Abnormality of the genitourinary system	64682	ANAPC1	OMIM:618625
HP:0000119	Abnormality of the genitourinary system	5424	POLD1	OMIM:615381
HP:0000119	Abnormality of the genitourinary system	1770	DNAH9	OMIM:618300
HP:0000119	Abnormality of the genitourinary system	55240	STEAP3	OMIM:615234
HP:0000119	Abnormality of the genitourinary system	55240	STEAP3	ORPHA:300298
HP:0000119	Abnormality of the genitourinary system	84515	MCM8	OMIM:612885
HP:0000119	Abnormality of the genitourinary system	4438	MSH4	OMIM:108420
HP:0000119	Abnormality of the genitourinary system	317761	C14orf39	OMIM:619202
HP:0000119	Abnormality of the genitourinary system	1080	CFTR	OMIM:277180
HP:0000119	Abnormality of the genitourinary system	1080	CFTR	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	6875	TAF4B	OMIM:615841
HP:0000119	Abnormality of the genitourinary system	6875	TAF4B	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	84225	ZMYND15	OMIM:615842
HP:0000119	Abnormality of the genitourinary system	84225	ZMYND15	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	56155	TEX14	OMIM:617707
HP:0000119	Abnormality of the genitourinary system	56155	TEX14	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	91057	CCDC34	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	402381	SOHLH1	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	317719	KLHL10	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	154197	PNLDC1	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	93426	SYCE1	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	340719	NANOS1	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	340719	NANOS1	OMIM:615413
HP:0000119	Abnormality of the genitourinary system	50511	SYCP3	ORPHA:399805
HP:0000119	Abnormality of the genitourinary system	50511	SYCP3	OMIM:270960
HP:0000119	Abnormality of the genitourinary system	8915	BCL10	OMIM:273300
HP:0000119	Abnormality of the genitourinary system	3815	KIT	OMIM:273300
HP:0000119	Abnormality of the genitourinary system	79184	BRCC3	ORPHA:280679
HP:0000119	Abnormality of the genitourinary system	161497	STRC	ORPHA:94064
HP:0000119	Abnormality of the genitourinary system	117155	CATSPER2	ORPHA:94064
HP:0000119	Abnormality of the genitourinary system	93953	GCNA	OMIM:301077
HP:0000119	Abnormality of the genitourinary system	10149	ADGRG2	OMIM:300985
HP:0000119	Abnormality of the genitourinary system	5161	PDHA2	OMIM:619828
HP:0000119	Abnormality of the genitourinary system	130951	M1AP	OMIM:619108
HP:0000119	Abnormality of the genitourinary system	9082	XKRY	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	8284	KDM5D	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	442862	PRY2	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	9081	PRY	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	140032	RPS4Y2	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	9426	CDY2A	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	9083	BPY2	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	86614	HSFY1	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	9084	VCY	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	9085	CDY1	OMIM:415000
HP:0000119	Abnormality of the genitourinary system	6342	SCP2	OMIM:613724
HP:0000119	Abnormality of the genitourinary system	23135	KDM6B	OMIM:618505
HP:0000119	Abnormality of the genitourinary system	1024	CDK8	OMIM:618748
HP:0000119	Abnormality of the genitourinary system	7258	TSPY1	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	57055	DAZ2	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	57135	DAZ4	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	8287	USP9Y	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	5940	RBMY1A1	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	57054	DAZ3	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	8653	DDX3Y	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	1617	DAZ1	ORPHA:1646
HP:0000119	Abnormality of the genitourinary system	80816	ASXL3	OMIM:615485
HP:0000119	Abnormality of the genitourinary system	55690	PACS1	OMIM:615009
HP:0000119	Abnormality of the genitourinary system	55690	PACS1	ORPHA:329224
HP:0000119	Abnormality of the genitourinary system	55904	KMT2E	OMIM:618512
HP:0000119	Abnormality of the genitourinary system	2192	FBLN1	ORPHA:404451
HP:0000119	Abnormality of the genitourinary system	54453	RIN2	OMIM:613075
HP:0000119	Abnormality of the genitourinary system	54453	RIN2	ORPHA:217335
HP:0000119	Abnormality of the genitourinary system	7994	KAT6A	ORPHA:457193
HP:0000119	Abnormality of the genitourinary system	55681	SCYL2	OMIM:618766
HP:0000119	Abnormality of the genitourinary system	10484	SEC23A	OMIM:607812
HP:0000119	Abnormality of the genitourinary system	23327	NEDD4L	OMIM:617201
HP:0000119	Abnormality of the genitourinary system	5500	PPP1CB	ORPHA:2701
HP:0000119	Abnormality of the genitourinary system	5500	PPP1CB	OMIM:617506
HP:0000119	Abnormality of the genitourinary system	51057	WDPCP	ORPHA:110
HP:0000119	Abnormality of the genitourinary system	51057	WDPCP	ORPHA:1338
HP:0000119	Abnormality of the genitourinary system	84984	CEP19	ORPHA:110
HP:0000119	Abnormality of the genitourinary system	55212	BBS7	ORPHA:110
HP:0000119	Abnormality of the genitourinary system	80173	IFT74	ORPHA:110
HP:0000119	Abnormality of the genitourinary system	23512	SUZ12	OMIM:618786
HP:0000119	Abnormality of the genitourinary system	23512	SUZ12	ORPHA:3447
HP:0000119	Abnormality of the genitourinary system	51633	OTUD6B	OMIM:617452
HP:0000119	Abnormality of the genitourinary system	51633	OTUD6B	ORPHA:505237
HP:0000119	Abnormality of the genitourinary system	641	BLM	OMIM:210900
HP:0000119	Abnormality of the genitourinary system	57688	ZSWIM6	OMIM:603671
HP:0000119	Abnormality of the genitourinary system	57688	ZSWIM6	ORPHA:1827
HP:0000119	Abnormality of the genitourinary system	23483	TGDS	OMIM:616145
HP:0000119	Abnormality of the genitourinary system	56246	MRAP	ORPHA:361
HP:0000119	Abnormality of the genitourinary system	4158	MC2R	ORPHA:361
HP:0000119	Abnormality of the genitourinary system	23530	NNT	ORPHA:361
HP:0000119	Abnormality of the genitourinary system	23530	NNT	OMIM:614736
HP:0000119	Abnormality of the genitourinary system	10587	TXNRD2	ORPHA:361
HP:0000119	Abnormality of the genitourinary system	5881	RAC3	OMIM:618577
HP:0000119	Abnormality of the genitourinary system	5081	PAX7	OMIM:618578
HP:0000119	Abnormality of the genitourinary system	389827	MYMK	OMIM:254940
HP:0000119	Abnormality of the genitourinary system	7291	TWIST1	ORPHA:794
HP:0000119	Abnormality of the genitourinary system	1798	DPAGT1	OMIM:608093
HP:0000119	Abnormality of the genitourinary system	4784	NFIX	OMIM:602535
HP:0000119	Abnormality of the genitourinary system	84340	GFM2	ORPHA:565624
HP:0000119	Abnormality of the genitourinary system	11285	B4GALT7	ORPHA:75496
HP:0000119	Abnormality of the genitourinary system	4927	NUP88	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	4927	NUP88	OMIM:618393
HP:0000119	Abnormality of the genitourinary system	7846	TUBA1A	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	4593	MUSK	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	4593	MUSK	OMIM:208150
HP:0000119	Abnormality of the genitourinary system	5913	RAPSN	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	5913	RAPSN	OMIM:618388
HP:0000119	Abnormality of the genitourinary system	6572	SLC18A3	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	285489	DOK7	ORPHA:994
HP:0000119	Abnormality of the genitourinary system	134218	DNAJC21	OMIM:617052
HP:0000119	Abnormality of the genitourinary system	94005	PIGS	OMIM:618143
HP:0000119	Abnormality of the genitourinary system	2317	FLNB	ORPHA:503
HP:0000119	Abnormality of the genitourinary system	2317	FLNB	ORPHA:1263
HP:0000119	Abnormality of the genitourinary system	2317	FLNB	OMIM:108720
HP:0000119	Abnormality of the genitourinary system	2317	FLNB	OMIM:150250
HP:0000119	Abnormality of the genitourinary system	388015	RTL1	ORPHA:96184
HP:0000119	Abnormality of the genitourinary system	388015	RTL1	ORPHA:96334
HP:0000119	Abnormality of the genitourinary system	8788	DLK1	ORPHA:96184
HP:0000119	Abnormality of the genitourinary system	8788	DLK1	ORPHA:96334
HP:0000119	Abnormality of the genitourinary system	55384	MEG3	ORPHA:96184
HP:0000119	Abnormality of the genitourinary system	55384	MEG3	ORPHA:96334
HP:0000119	Abnormality of the genitourinary system	10682	EBP	OMIM:300960
HP:0000119	Abnormality of the genitourinary system	10682	EBP	ORPHA:401973
HP:0000119	Abnormality of the genitourinary system	4841	NONO	OMIM:300967
HP:0000119	Abnormality of the genitourinary system	4841	NONO	ORPHA:466791
HP:0000119	Abnormality of the genitourinary system	23112	TNRC6B	OMIM:619243
HP:0000119	Abnormality of the genitourinary system	91875	TTC5	OMIM:619244
HP:0000119	Abnormality of the genitourinary system	7169	TPM2	OMIM:108120
HP:0000119	Abnormality of the genitourinary system	23133	PHF8	ORPHA:85287
HP:0000119	Abnormality of the genitourinary system	55294	FBXW7	OMIM:620012
HP:0000119	Abnormality of the genitourinary system	6095	RORA	OMIM:618060
HP:0000119	Abnormality of the genitourinary system	23241	PACS2	OMIM:618067
HP:0000119	Abnormality of the genitourinary system	10978	CLP1	OMIM:615803
HP:0000119	Abnormality of the genitourinary system	92579	G6PC3	OMIM:612541
HP:0000119	Abnormality of the genitourinary system	23545	ATP6V0A2	OMIM:278250
HP:0000119	Abnormality of the genitourinary system	23545	ATP6V0A2	ORPHA:2834
HP:0000119	Abnormality of the genitourinary system	84300	UQCC2	OMIM:615824
HP:0000119	Abnormality of the genitourinary system	79053	ALG8	OMIM:608104
HP:0000119	Abnormality of the genitourinary system	165	AEBP1	ORPHA:536532
HP:0000119	Abnormality of the genitourinary system	165	AEBP1	OMIM:618000
HP:0000119	Abnormality of the genitourinary system	64327	LMBR1	ORPHA:2378
HP:0000119	Abnormality of the genitourinary system	6091	ROBO1	ORPHA:95496
HP:0000119	Abnormality of the genitourinary system	23432	GPR161	ORPHA:95496
HP:0000119	Abnormality of the genitourinary system	10436	EMG1	ORPHA:1270
HP:0000119	Abnormality of the genitourinary system	283120	H19	ORPHA:2128
HP:0000119	Abnormality of the genitourinary system	8726	EED	ORPHA:3447
HP:0000119	Abnormality of the genitourinary system	8726	EED	OMIM:617561
HP:0000119	Abnormality of the genitourinary system	6567	SLC16A2	ORPHA:59
HP:0000119	Abnormality of the genitourinary system	55023	PHIP	ORPHA:589905
HP:0000119	Abnormality of the genitourinary system	55023	PHIP	OMIM:617991
HP:0000119	Abnormality of the genitourinary system	3640	INSL3	OMIM:219050
HP:0000119	Abnormality of the genitourinary system	2891	GRIA2	OMIM:618917
HP:0000119	Abnormality of the genitourinary system	259232	NALCN	OMIM:615419
HP:0000119	Abnormality of the genitourinary system	259232	NALCN	ORPHA:2053
HP:0000119	Abnormality of the genitourinary system	79576	NKAP	OMIM:301039
HP:0000119	Abnormality of the genitourinary system	2313	FLI1	ORPHA:2308
HP:0000119	Abnormality of the genitourinary system	157680	VPS13B	ORPHA:193
HP:0000119	Abnormality of the genitourinary system	55617	TASP1	OMIM:618950
HP:0000119	Abnormality of the genitourinary system	28957	MRPS28	OMIM:618958
HP:0000119	Abnormality of the genitourinary system	1748	DLX4	OMIM:616788
HP:0000119	Abnormality of the genitourinary system	23389	MED13L	OMIM:616789
HP:0000119	Abnormality of the genitourinary system	23389	MED13L	ORPHA:369891
HP:0000119	Abnormality of the genitourinary system	246329	STAC3	OMIM:255995
HP:0000119	Abnormality of the genitourinary system	246329	STAC3	ORPHA:168572
HP:0000119	Abnormality of the genitourinary system	3008	H1-4	OMIM:617537
HP:0000119	Abnormality of the genitourinary system	51111	KMT5B	OMIM:617788
HP:0000119	Abnormality of the genitourinary system	129563	DIS3L2	ORPHA:2849
HP:0000119	Abnormality of the genitourinary system	129563	DIS3L2	OMIM:267000
HP:0000119	Abnormality of the genitourinary system	55870	ASH1L	OMIM:617796
HP:0000119	Abnormality of the genitourinary system	1183	CLCN4	ORPHA:485350
HP:0000119	Abnormality of the genitourinary system	64359	NXN	ORPHA:1507
HP:0000119	Abnormality of the genitourinary system	93627	TBCK	ORPHA:488632
HP:0000119	Abnormality of the genitourinary system	1182	CLCN3	OMIM:619512
HP:0000119	Abnormality of the genitourinary system	5792	PTPRF	OMIM:616001
HP:0000119	Abnormality of the genitourinary system	145258	GSC	OMIM:602471
HP:0000119	Abnormality of the genitourinary system	26137	ZBTB20	OMIM:259050
HP:0000119	Abnormality of the genitourinary system	2312	FLG	ORPHA:461
HP:0000119	Abnormality of the genitourinary system	9993	DGCR2	OMIM:192430
HP:0000119	Abnormality of the genitourinary system	8220	ESS2	OMIM:192430
HP:0000119	Abnormality of the genitourinary system	8214	DGCR6	OMIM:192430
HP:0000119	Abnormality of the genitourinary system	54487	DGCR8	OMIM:192430
HP:0000119	Abnormality of the genitourinary system	5286	PIK3C2A	OMIM:618440
HP:0000119	Abnormality of the genitourinary system	404672	GTF2H5	ORPHA:33364
HP:0000119	Abnormality of the genitourinary system	136647	MPLKIP	ORPHA:33364
HP:0000119	Abnormality of the genitourinary system	6897	TARS1	ORPHA:33364
HP:0000119	Abnormality of the genitourinary system	2961	GTF2E2	ORPHA:33364
HP:0000119	Abnormality of the genitourinary system	6878	TAF6	OMIM:617126
HP:0000119	Abnormality of the genitourinary system	9759	HDAC4	OMIM:619797
HP:0000119	Abnormality of the genitourinary system	84892	POMGNT2	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	148789	B3GALNT2	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	729920	CRPPA	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	10329	RXYLT1	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	1605	DAG1	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	84197	POMK	ORPHA:899
HP:0000119	Abnormality of the genitourinary system	79068	FTO	OMIM:612938
HP:0000119	Abnormality of the genitourinary system	10082	GPC6	OMIM:258315
HP:0000119	Abnormality of the genitourinary system	10082	GPC6	ORPHA:93329
HP:0000119	Abnormality of the genitourinary system	29895	MYL11	OMIM:619110
HP:0000119	Abnormality of the genitourinary system	1836	SLC26A2	ORPHA:628
HP:0000119	Abnormality of the genitourinary system	90416	CCDC32	OMIM:619123
HP:0000119	Abnormality of the genitourinary system	57020	VPS35L	OMIM:619135
HP:0000119	Abnormality of the genitourinary system	1984	EIF5A	OMIM:619376
HP:0000119	Abnormality of the genitourinary system	2733	GLE1	OMIM:611890
HP:0000119	Abnormality of the genitourinary system	59	ACTA2	OMIM:613834
HP:0000119	Abnormality of the genitourinary system	221692	PHACTR1	OMIM:618298
HP:0000119	Abnormality of the genitourinary system	5605	MAP2K2	ORPHA:638
HP:0000119	Abnormality of the genitourinary system	5605	MAP2K2	ORPHA:1340
HP:0000119	Abnormality of the genitourinary system	9325	TRIP4	ORPHA:486815
HP:0000119	Abnormality of the genitourinary system	83483	PLVAP	OMIM:618183
HP:0000119	Abnormality of the genitourinary system	2904	GRIN2B	OMIM:613970
HP:0000119	Abnormality of the genitourinary system	8854	ALDH1A2	OMIM:620025
HP:0000119	Abnormality of the genitourinary system	3636	INPPL1	ORPHA:3144
HP:0000119	Abnormality of the genitourinary system	23169	SLC35D1	ORPHA:3144
HP:0000119	Abnormality of the genitourinary system	8496	PPFIBP1	OMIM:620024
HP:0000119	Abnormality of the genitourinary system	26053	AUTS2	ORPHA:352490
HP:0000119	Abnormality of the genitourinary system	5826	ABCD4	OMIM:614857
HP:0000119	Abnormality of the genitourinary system	26227	PHGDH	OMIM:256520
HP:0000119	Abnormality of the genitourinary system	4953	ODC1	OMIM:619075
HP:0000119	Abnormality of the genitourinary system	51244	CCDC174	OMIM:616816
HP:0000119	Abnormality of the genitourinary system	254065	BRWD3	OMIM:300659
HP:0000119	Abnormality of the genitourinary system	2200	FBN1	ORPHA:2462
HP:0000119	Abnormality of the genitourinary system	2702	GJA5	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	1482	NKX2-5	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	137814	NKX2-6	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	3791	KDR	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	2657	GDF1	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	140628	GATA5	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	10370	CITED2	ORPHA:3303
HP:0000119	Abnormality of the genitourinary system	5831	PYCR1	OMIM:614438
HP:0000119	Abnormality of the genitourinary system	4297	KMT2A	OMIM:605130
HP:0000119	Abnormality of the genitourinary system	10265	IRX5	OMIM:611174
HP:0000119	Abnormality of the genitourinary system	7074	TIAM1	OMIM:619908
HP:0000119	Abnormality of the genitourinary system	8905	AP1S2	ORPHA:1568
HP:0000119	Abnormality of the genitourinary system	5455	POU3F3	OMIM:618604
HP:0000119	Abnormality of the genitourinary system	1760	DMPK	OMIM:160900
HP:0000119	Abnormality of the genitourinary system	56159	TEX11	OMIM:309120
HP:0000119	Abnormality of the genitourinary system	7374	UNG	OMIM:608106
HP:0000119	Abnormality of the genitourinary system	5696	PSMB8	OMIM:256040
HP:0000119	Abnormality of the genitourinary system	3514	IGKC	ORPHA:183675
HP:0000119	Abnormality of the genitourinary system	3501	IGHG2	ORPHA:183675
HP:0000119	Abnormality of the genitourinary system	1802	DPH2	OMIM:620062
HP:0000119	Abnormality of the genitourinary system	9780	PIEZO1	OMIM:616843
HP:0000119	Abnormality of the genitourinary system	2324	FLT4	OMIM:153100
HP:0000119	Abnormality of the genitourinary system	2324	FLT4	ORPHA:79452
HP:0000119	Abnormality of the genitourinary system	285	ANGPT2	OMIM:619369
HP:0000119	Abnormality of the genitourinary system	9739	SETD1A	OMIM:618832
HP:0000119	Abnormality of the genitourinary system	7841	MOGS	ORPHA:79330
HP:0000119	Abnormality of the genitourinary system	2122	MECOM	OMIM:616738
HP:0000119	Abnormality of the genitourinary system	80267	EDEM3	OMIM:619493
HP:0000119	Abnormality of the genitourinary system	2146	EZH2	OMIM:277590
HP:0000119	Abnormality of the genitourinary system	55901	THSD1	OMIM:620244
HP:0000119	Abnormality of the genitourinary system	29969	MDFIC	OMIM:620014
HP:0000119	Abnormality of the genitourinary system	7424	VEGFC	OMIM:615907
HP:0000119	Abnormality of the genitourinary system	472	ATM	ORPHA:100
HP:0000119	Abnormality of the genitourinary system	92840	REEP6	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6094	ROM1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6017	RLBP1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	7401	CLRN1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	24	ABCA4	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	130557	ZNF513	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	92211	CDHR1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	23568	ARL2BP	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6121	RPE65	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6101	RP1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	3419	IDH3A	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	4751	NEK2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	346007	EYS	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	8100	IFT88	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	23020	SNRNP200	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	762	CA4	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	138050	HGSNAT	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	196	AHR	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	3614	IMPDH1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6103	RPGR	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	1406	CRX	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5148	PDE6G	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	26121	PRPF31	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	583	BBS2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	4117	MAK	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	25794	FSCN2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	375298	CERKL	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	3420	IDH3B	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	57670	KIAA1549	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	7275	TUB	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	24148	PRPF6	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	23418	CRB1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	10461	MERTK	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	57709	SLC7A14	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	768206	PRCD	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	7399	USH2A	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	23370	ARHGEF18	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5949	RBP3	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6010	RHO	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6100	RP9	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	10002	NR2E3	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	9227	LRAT	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	84140	FAM161A	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	55812	SPATA7	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	55624	POMGNT1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	79797	ZNF408	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5145	PDE6A	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	10210	TOPORS	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	8842	PROM1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	9128	PRPF4	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	145226	RDH12	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	50939	IMPG2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	49855	SCAPER	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	2979	GUCA1B	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	1259	CNGA1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	1258	CNGB1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	60509	AGBL5	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5961	PRPH2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	388939	PCARE	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	7439	BEST1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	9785	DHX38	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	7287	TULP1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5995	RGR	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	9129	PRPF3	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	55975	KLHL7	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	3617	IMPG1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	94137	RP1L1	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	5158	PDE6B	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6102	RP2	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	55857	KIZ	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	64218	SEMA4A	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	4901	NRL	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	10594	PRPF8	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	6295	SAG	ORPHA:791
HP:0000119	Abnormality of the genitourinary system	80169	CTC1	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	26277	TINF2	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	55651	NHP2	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	79650	USB1	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	55135	WRAP53	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	51750	RTEL1	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	4869	NPM1	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	7012	TERC	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	55505	NOP10	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	5073	PARN	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	7298	TYMS	ORPHA:1775
HP:0000119	Abnormality of the genitourinary system	2697	GJA1	ORPHA:317
HP:0000119	Abnormality of the genitourinary system	2707	GJB3	ORPHA:317
HP:0000119	Abnormality of the genitourinary system	2531	KDSR	ORPHA:317
HP:0000119	Abnormality of the genitourinary system	127534	GJB4	ORPHA:317
HP:0000119	Abnormality of the genitourinary system	7486	WRN	ORPHA:902
HP:0000119	Abnormality of the genitourinary system	4089	SMAD4	ORPHA:2588
HP:0000119	Abnormality of the genitourinary system	55733	HHAT	ORPHA:1422
HP:0000119	Abnormality of the genitourinary system	55733	HHAT	OMIM:600092
HP:0000119	Abnormality of the genitourinary system	268	AMH	ORPHA:2856
HP:0000119	Abnormality of the genitourinary system	269	AMHR2	ORPHA:2856
HP:0000119	Abnormality of the genitourinary system	1583	CYP11A1	ORPHA:168558
HP:0000119	Abnormality of the genitourinary system	1583	CYP11A1	ORPHA:289548
HP:0000119	Abnormality of the genitourinary system	29123	ANKRD11	OMIM:148050
HP:0000119	Abnormality of the genitourinary system	26005	C2CD3	ORPHA:434179
HP:0000119	Abnormality of the genitourinary system	26005	C2CD3	OMIM:615948
HP:0000119	Abnormality of the genitourinary system	3756	KCNH1	OMIM:135500
HP:0000119	Abnormality of the genitourinary system	3973	LHCGR	ORPHA:3000
HP:0000119	Abnormality of the genitourinary system	9791	PTDSS1	OMIM:151050
HP:0000119	Abnormality of the genitourinary system	23028	KDM1A	ORPHA:477993
HP:0000119	Abnormality of the genitourinary system	23028	KDM1A	OMIM:616728
HP:0000119	Abnormality of the genitourinary system	9578	CDC42BPB	OMIM:619841
HP:0000119	Abnormality of the genitourinary system	1859	DYRK1A	ORPHA:268261
HP:0000119	Abnormality of the genitourinary system	833	CARS1	OMIM:618891
HP:0000119	Abnormality of the genitourinary system	4659	PPP1R12A	OMIM:618820
HP:0000119	Abnormality of the genitourinary system	81848	SPRY4	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	81848	SPRY4	OMIM:615266
HP:0000119	Abnormality of the genitourinary system	81848	SPRY4	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	81848	SPRY4	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	128674	PROKR2	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	128674	PROKR2	OMIM:244200
HP:0000119	Abnormality of the genitourinary system	128674	PROKR2	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	60675	PROK2	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	60675	PROK2	OMIM:610628
HP:0000119	Abnormality of the genitourinary system	60675	PROK2	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	6870	TACR3	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	6870	TACR3	OMIM:614840
HP:0000119	Abnormality of the genitourinary system	6870	TACR3	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	1848	DUSP6	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	1848	DUSP6	OMIM:615269
HP:0000119	Abnormality of the genitourinary system	1848	DUSP6	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	1848	DUSP6	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	26012	NSMF	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	26012	NSMF	OMIM:614838
HP:0000119	Abnormality of the genitourinary system	55717	WDR11	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	55717	WDR11	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	55717	WDR11	OMIM:614858
HP:0000119	Abnormality of the genitourinary system	55717	WDR11	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	9394	HS6ST1	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	9394	HS6ST1	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	2796	GNRH1	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	2796	GNRH1	OMIM:614841
HP:0000119	Abnormality of the genitourinary system	2796	GNRH1	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	2798	GNRHR	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	2798	GNRHR	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	84634	KISS1R	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	84634	KISS1R	OMIM:614837
HP:0000119	Abnormality of the genitourinary system	6866	TAC3	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	6866	TAC3	OMIM:614839
HP:0000119	Abnormality of the genitourinary system	8822	FGF17	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	8822	FGF17	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	8822	FGF17	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	3814	KISS1	ORPHA:432
HP:0000119	Abnormality of the genitourinary system	3814	KISS1	OMIM:614842
HP:0000119	Abnormality of the genitourinary system	10126	DNAL4	ORPHA:238722
HP:0000119	Abnormality of the genitourinary system	9423	NTN1	ORPHA:238722
HP:0000119	Abnormality of the genitourinary system	1630	DCC	ORPHA:238722
HP:0000119	Abnormality of the genitourinary system	1630	DCC	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	55703	POLR3B	OMIM:614381
HP:0000119	Abnormality of the genitourinary system	55703	POLR3B	OMIM:607694
HP:0000119	Abnormality of the genitourinary system	51728	POLR3K	OMIM:619310
HP:0000119	Abnormality of the genitourinary system	6938	TCF12	OMIM:619718
HP:0000119	Abnormality of the genitourinary system	148738	HJV	OMIM:602390
HP:0000119	Abnormality of the genitourinary system	9150	CTDP1	OMIM:604168
HP:0000119	Abnormality of the genitourinary system	9150	CTDP1	ORPHA:48431
HP:0000119	Abnormality of the genitourinary system	2488	FSHB	ORPHA:52901
HP:0000119	Abnormality of the genitourinary system	1363	CPE	OMIM:619326
HP:0000119	Abnormality of the genitourinary system	54476	RNF216	OMIM:212840
HP:0000119	Abnormality of the genitourinary system	54476	RNF216	ORPHA:1173
HP:0000119	Abnormality of the genitourinary system	1890	TYMP	ORPHA:298
HP:0000119	Abnormality of the genitourinary system	3980	LIG3	ORPHA:298
HP:0000119	Abnormality of the genitourinary system	5980	REV3L	ORPHA:570
HP:0000119	Abnormality of the genitourinary system	23129	PLXND1	ORPHA:570
HP:0000119	Abnormality of the genitourinary system	55366	LGR4	OMIM:619613
HP:0000119	Abnormality of the genitourinary system	83550	GPR101	ORPHA:963
HP:0000119	Abnormality of the genitourinary system	5422	POLA1	OMIM:301030
HP:0000119	Abnormality of the genitourinary system	558	AXL	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	10011	SRA1	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	285025	CCDC141	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	285025	CCDC141	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	389549	FEZF1	OMIM:146110
HP:0000119	Abnormality of the genitourinary system	389549	FEZF1	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	4990	SIX6	OMIM:206900
HP:0000119	Abnormality of the genitourinary system	6657	SOX2	OMIM:206900
HP:0000119	Abnormality of the genitourinary system	3077	HFE	OMIM:235200
HP:0000119	Abnormality of the genitourinary system	3077	HFE	ORPHA:465508
HP:0000119	Abnormality of the genitourinary system	650	BMP2	OMIM:235200
HP:0000119	Abnormality of the genitourinary system	55131	RBM28	ORPHA:157954
HP:0000119	Abnormality of the genitourinary system	55131	RBM28	OMIM:612079
HP:0000119	Abnormality of the genitourinary system	5626	PROP1	ORPHA:226307
HP:0000119	Abnormality of the genitourinary system	5626	PROP1	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	5626	PROP1	ORPHA:90695
HP:0000119	Abnormality of the genitourinary system	89884	LHX4	ORPHA:226307
HP:0000119	Abnormality of the genitourinary system	89884	LHX4	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	8022	LHX3	ORPHA:226307
HP:0000119	Abnormality of the genitourinary system	5449	POU1F1	ORPHA:226307
HP:0000119	Abnormality of the genitourinary system	5449	POU1F1	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	8820	HESX1	ORPHA:226307
HP:0000119	Abnormality of the genitourinary system	8820	HESX1	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	8820	HESX1	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	8314	BAP1	ORPHA:2495
HP:0000119	Abnormality of the genitourinary system	4771	NF2	ORPHA:2495
HP:0000119	Abnormality of the genitourinary system	5155	PDGFB	ORPHA:2495
HP:0000119	Abnormality of the genitourinary system	84231	TRAF7	ORPHA:2495
HP:0000119	Abnormality of the genitourinary system	6608	SMO	ORPHA:2495
HP:0000119	Abnormality of the genitourinary system	286	ANK1	ORPHA:251066
HP:0000119	Abnormality of the genitourinary system	7036	TFR2	OMIM:604250
HP:0000119	Abnormality of the genitourinary system	3170	FOXA2	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	5015	OTX2	ORPHA:95494
HP:0000119	Abnormality of the genitourinary system	3972	LHB	OMIM:228300
HP:0000119	Abnormality of the genitourinary system	59336	PRDM13	OMIM:619761
HP:0000119	Abnormality of the genitourinary system	81887	LAS1L	ORPHA:3459
HP:0000119	Abnormality of the genitourinary system	8643	PTCH2	ORPHA:377
HP:0000119	Abnormality of the genitourinary system	2706	GJB2	ORPHA:494
HP:0000119	Abnormality of the genitourinary system	5122	PCSK1	OMIM:600955
HP:0000119	Abnormality of the genitourinary system	654	BMP6	ORPHA:465508
HP:0000119	Abnormality of the genitourinary system	3730	ANOS1	OMIM:308700
HP:0000119	Abnormality of the genitourinary system	3730	ANOS1	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	1761	DMRT1	ORPHA:242
HP:0000119	Abnormality of the genitourinary system	84733	CBX2	ORPHA:242
HP:0000119	Abnormality of the genitourinary system	50846	DHH	ORPHA:242
HP:0000119	Abnormality of the genitourinary system	80067	DCAF17	OMIM:241080
HP:0000119	Abnormality of the genitourinary system	10371	SEMA3A	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	23767	FLRT3	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	79625	NDNF	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	54756	IL17RD	ORPHA:478
HP:0000119	Abnormality of the genitourinary system	5324	PLAG1	ORPHA:397590
HP:0000119	Abnormality of the genitourinary system	10056	FARSB	OMIM:613658
HP:0000119	Abnormality of the genitourinary system	84172	POLR1B	ORPHA:861
HP:0000119	Abnormality of the genitourinary system	9533	POLR1C	ORPHA:861
HP:0000119	Abnormality of the genitourinary system	51082	POLR1D	ORPHA:861
HP:0000119	Abnormality of the genitourinary system	6949	TCOF1	ORPHA:861
HP:0000119	Abnormality of the genitourinary system	4983	OPHN1	OMIM:300486
HP:0000119	Abnormality of the genitourinary system	51124	IER3IP1	OMIM:614231
HP:0000119	Abnormality of the genitourinary system	84162	BLTP1	OMIM:617822
HP:0000119	Abnormality of the genitourinary system	3703	STT3A	ORPHA:370921
HP:0000119	Abnormality of the genitourinary system	6261	RYR1	ORPHA:98905
HP:0000119	Abnormality of the genitourinary system	7476	WNT7A	OMIM:276820
HP:0000119	Abnormality of the genitourinary system	4621	MYH3	ORPHA:2990
HP:0000119	Abnormality of the genitourinary system	1146	CHRNG	ORPHA:2990
HP:0000119	Abnormality of the genitourinary system	84295	PHF6	ORPHA:127
HP:0000119	Abnormality of the genitourinary system	79087	ALG12	OMIM:607143
HP:0000119	Abnormality of the genitourinary system	372	ARCN1	OMIM:617164
HP:0000119	Abnormality of the genitourinary system	60529	ALX4	ORPHA:228390
HP:0000119	Abnormality of the genitourinary system	203068	TUBB	ORPHA:2505
HP:0000119	Abnormality of the genitourinary system	26235	FBXL4	OMIM:615471
HP:0000119	Abnormality of the genitourinary system	1947	EFNB1	ORPHA:1520
HP:0000119	Abnormality of the genitourinary system	1947	EFNB1	OMIM:304110
HP:0000119	Abnormality of the genitourinary system	9820	CUL7	ORPHA:2616
HP:0000119	Abnormality of the genitourinary system	9820	CUL7	OMIM:273750
HP:0000119	Abnormality of the genitourinary system	23363	OBSL1	ORPHA:2616
HP:0000119	Abnormality of the genitourinary system	83987	CCDC8	ORPHA:2616
HP:0000119	Abnormality of the genitourinary system	81857	MED25	OMIM:616449
HP:0000119	Abnormality of the genitourinary system	81857	MED25	ORPHA:464738
HP:0000119	Abnormality of the genitourinary system	267010	RNU12	OMIM:603116
HP:0000119	Abnormality of the genitourinary system	116931	MED12L	OMIM:618872
HP:0000119	Abnormality of the genitourinary system	7020	TFAP2A	OMIM:113620
HP:0000119	Abnormality of the genitourinary system	8363	H4C11	OMIM:619759
HP:0000119	Abnormality of the genitourinary system	6134	RPL10	ORPHA:459070
HP:0000119	Abnormality of the genitourinary system	6134	RPL10	OMIM:300998
HP:0000119	Abnormality of the genitourinary system	6134	RPL10	ORPHA:435938
HP:0000119	Abnormality of the genitourinary system	9772	TMEM94	OMIM:618316
HP:0000119	Abnormality of the genitourinary system	9725	TMEM63A	OMIM:618688
HP:0000119	Abnormality of the genitourinary system	1523	CUX1	OMIM:618330
HP:0000119	Abnormality of the genitourinary system	6477	SIAH1	OMIM:619314
HP:0000119	Abnormality of the genitourinary system	8473	OGT	OMIM:300997
HP:0000119	Abnormality of the genitourinary system	10765	KDM5B	OMIM:618109
HP:0000119	Abnormality of the genitourinary system	5308	PITX2	ORPHA:782
HP:0000119	Abnormality of the genitourinary system	5308	PITX2	OMIM:180500
HP:0000119	Abnormality of the genitourinary system	2296	FOXC1	ORPHA:782
HP:0000119	Abnormality of the genitourinary system	3039	HBA1	ORPHA:98791
HP:0000119	Abnormality of the genitourinary system	3040	HBA2	ORPHA:98791
HP:0000119	Abnormality of the genitourinary system	50945	TBX22	OMIM:302905
HP:0000119	Abnormality of the genitourinary system	50945	TBX22	ORPHA:921
HP:0000119	Abnormality of the genitourinary system	25942	SIN3A	ORPHA:94065
HP:0000119	Abnormality of the genitourinary system	25942	SIN3A	OMIM:613406
HP:0000119	Abnormality of the genitourinary system	8802	SUCLG1	ORPHA:17
HP:0000119	Abnormality of the genitourinary system	4700	NDUFA6	OMIM:618253
HP:0000119	Abnormality of the genitourinary system	2475	MTOR	ORPHA:457485
HP:0000119	Abnormality of the genitourinary system	54809	SAMD9	OMIM:617053
HP:0000119	Abnormality of the genitourinary system	2222	FDFT1	OMIM:618156
HP:0000119	Abnormality of the genitourinary system	219844	HYLS1	OMIM:236680
HP:0000119	Abnormality of the genitourinary system	9897	WASHC5	ORPHA:7
HP:0000119	Abnormality of the genitourinary system	9897	WASHC5	OMIM:220210
HP:0000119	Abnormality of the genitourinary system	28952	CCDC22	ORPHA:7
HP:0000119	Abnormality of the genitourinary system	55181	SMG8	OMIM:619268
HP:0000119	Abnormality of the genitourinary system	4713	NDUFB7	OMIM:620135
HP:0000119	Abnormality of the genitourinary system	4702	NDUFA8	OMIM:619272
HP:0000119	Abnormality of the genitourinary system	10128	LRPPRC	OMIM:220111
HP:0000119	Abnormality of the genitourinary system	6770	STAR	OMIM:201710
HP:0000119	Abnormality of the genitourinary system	10847	SRCAP	ORPHA:2044
HP:0000119	Abnormality of the genitourinary system	10847	SRCAP	OMIM:136140
HP:0000119	Abnormality of the genitourinary system	55780	ERMARD	ORPHA:75857
HP:0000119	Abnormality of the genitourinary system	222663	SCUBE3	OMIM:619184
HP:0000119	Abnormality of the genitourinary system	83879	CDCA7	OMIM:616910
HP:0000119	Abnormality of the genitourinary system	53834	FGFRL1	OMIM:194190
HP:0000119	Abnormality of the genitourinary system	5828	PEX2	OMIM:614866
HP:0000119	Abnormality of the genitourinary system	5828	PEX2	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	57459	GATAD2B	ORPHA:363686
HP:0000119	Abnormality of the genitourinary system	55670	PEX26	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	5824	PEX19	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	8504	PEX3	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	8799	PEX11B	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	9409	PEX16	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	5193	PEX12	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	5194	PEX13	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	5195	PEX14	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	5192	PEX10	ORPHA:912
HP:0000119	Abnormality of the genitourinary system	10159	ATP6AP2	OMIM:301045
HP:0000119	Abnormality of the genitourinary system	10586	MAB21L2	OMIM:615877
HP:0000119	Abnormality of the genitourinary system	55209	SETD5	OMIM:615761
HP:0000119	Abnormality of the genitourinary system	998	CDC42	OMIM:616737
HP:0000119	Abnormality of the genitourinary system	998	CDC42	ORPHA:487796
HP:0000119	Abnormality of the genitourinary system	8831	SYNGAP1	ORPHA:544254
HP:0000119	Abnormality of the genitourinary system	25	ABL1	OMIM:617602
HP:0000119	Abnormality of the genitourinary system	545	ATR	OMIM:210600
HP:0000119	Abnormality of the genitourinary system	5723	PSPH	ORPHA:79350
HP:0000119	Abnormality of the genitourinary system	1589	CYP21A2	OMIM:201910
HP:0000119	Abnormality of the genitourinary system	25914	RTTN	ORPHA:468631
HP:0000119	Abnormality of the genitourinary system	4796	TONSL	ORPHA:93357
HP:0000119	Abnormality of the genitourinary system	5879	RAC1	OMIM:617751
HP:0000119	Abnormality of the genitourinary system	5879	RAC1	ORPHA:500159
HP:0000119	Abnormality of the genitourinary system	51780	KDM3B	OMIM:618846
HP:0000119	Abnormality of the genitourinary system	4724	NDUFS4	OMIM:252010
HP:0000119	Abnormality of the genitourinary system	1468	SLC25A10	OMIM:618972
HP:0000119	Abnormality of the genitourinary system	5604	MAP2K1	OMIM:163950
HP:0000119	Abnormality of the genitourinary system	51733	UPB1	OMIM:613161
HP:0000119	Abnormality of the genitourinary system	2245	FGD1	OMIM:305400
HP:0000119	Abnormality of the genitourinary system	2245	FGD1	ORPHA:915
HP:0000119	Abnormality of the genitourinary system	51651	PTRH2	OMIM:616263
HP:0000119	Abnormality of the genitourinary system	51651	PTRH2	ORPHA:456312
HP:0000119	Abnormality of the genitourinary system	340533	NEXMIF	ORPHA:85277
HP:0000119	Abnormality of the genitourinary system	54499	TMCO1	OMIM:213980
HP:0000119	Abnormality of the genitourinary system	9496	TBX4	ORPHA:261279
HP:0000119	Abnormality of the genitourinary system	124512	METTL23	OMIM:615942
HP:0000119	Abnormality of the genitourinary system	8087	FXR1	OMIM:618823
HP:0000119	Abnormality of the genitourinary system	2218	FKTN	OMIM:236670
HP:0000119	Abnormality of the genitourinary system	4204	MECP2	OMIM:300055
HP:0000119	Abnormality of the genitourinary system	4204	MECP2	ORPHA:3077
HP:0000119	Abnormality of the genitourinary system	27316	RBMX	OMIM:300238
HP:0000119	Abnormality of the genitourinary system	8367	H4C5	OMIM:619950
HP:0000119	Abnormality of the genitourinary system	2332	FMR1	ORPHA:908
HP:0000119	Abnormality of the genitourinary system	11141	IL1RAPL1	OMIM:300143
HP:0000119	Abnormality of the genitourinary system	1193	CLIC2	OMIM:300886
HP:0000119	Abnormality of the genitourinary system	1193	CLIC2	ORPHA:324410
HP:0000119	Abnormality of the genitourinary system	51114	ZDHHC9	ORPHA:776
HP:0000119	Abnormality of the genitourinary system	65109	UPF3B	ORPHA:776
HP:0000119	Abnormality of the genitourinary system	7252	TSHB	ORPHA:90674
HP:0000119	Abnormality of the genitourinary system	8450	CUL4B	OMIM:300354
HP:0000119	Abnormality of the genitourinary system	91801	ALKBH8	OMIM:618504
HP:0000119	Abnormality of the genitourinary system	374654	KIF7	OMIM:200990
HP:0000119	Abnormality of the genitourinary system	58	ACTA1	ORPHA:171430
HP:0000119	Abnormality of the genitourinary system	4703	NEB	ORPHA:171430
HP:0000119	Abnormality of the genitourinary system	131377	KLHL40	ORPHA:171430
HP:0000119	Abnormality of the genitourinary system	10324	KLHL41	ORPHA:171430
HP:0000119	Abnormality of the genitourinary system	56203	LMOD3	ORPHA:171430
HP:0000119	Abnormality of the genitourinary system	1841	DTYMK	OMIM:619847
HP:0000119	Abnormality of the genitourinary system	1889	ECE1	OMIM:613870
HP:0000119	Abnormality of the genitourinary system	3952	LEP	OMIM:614962
HP:0000119	Abnormality of the genitourinary system	2688	GH1	OMIM:612781
HP:0000119	Abnormality of the genitourinary system	815	CAMK2A	OMIM:617798
HP:0000119	Abnormality of the genitourinary system	23116	TOGARAM1	OMIM:619185
HP:0000119	Abnormality of the genitourinary system	283987	HID1	OMIM:619983
HP:0000119	Abnormality of the genitourinary system	55148	UBR7	OMIM:619189
HP:0000119	Abnormality of the genitourinary system	1954	MEGF8	OMIM:614976
HP:0000119	Abnormality of the genitourinary system	2783	GNB2	OMIM:619503
HP:0000119	Abnormality of the genitourinary system	63901	FAM111A	OMIM:602361
HP:0000119	Abnormality of the genitourinary system	6905	TBCE	OMIM:241410
HP:0000119	Abnormality of the genitourinary system	79718	TBL1XR1	OMIM:602342
HP:0000119	Abnormality of the genitourinary system	11041	B4GAT1	OMIM:615287
HP:0000119	Abnormality of the genitourinary system	5591	PRKDC	OMIM:615966
HP:0000119	Abnormality of the genitourinary system	8242	KDM5C	OMIM:300534
HP:0000119	Abnormality of the genitourinary system	10661	KLF1	OMIM:613673
HP:0000119	Abnormality of the genitourinary system	129880	BBS5	OMIM:615983
HP:0000119	Abnormality of the genitourinary system	10535	RNASEH2A	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	84153	RNASEH2C	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	25939	SAMHD1	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	79621	RNASEH2B	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	103	ADAR	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	134353	LSM11	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	64135	IFIH1	ORPHA:51
HP:0000119	Abnormality of the genitourinary system	10075	HUWE1	OMIM:309590
HP:0000119	Abnormality of the genitourinary system	10466	COG5	ORPHA:263487
HP:0000119	Abnormality of the genitourinary system	56896	DPYSL5	OMIM:619435
HP:0000119	Abnormality of the genitourinary system	54585	LZTFL1	OMIM:615994
HP:0000119	Abnormality of the genitourinary system	23314	SATB2	ORPHA:251028
HP:0000119	Abnormality of the genitourinary system	113179	ADAT3	ORPHA:363528
HP:0000119	Abnormality of the genitourinary system	55784	MCTP2	ORPHA:1596
HP:0000119	Abnormality of the genitourinary system	29925	GMPPB	ORPHA:370968
HP:0000119	Abnormality of the genitourinary system	79147	FKRP	ORPHA:370968
HP:0000119	Abnormality of the genitourinary system	29954	POMT2	ORPHA:370968
HP:0000119	Abnormality of the genitourinary system	29954	POMT2	OMIM:613156
HP:0000119	Abnormality of the genitourinary system	9215	LARGE1	ORPHA:370968
HP:0000119	Abnormality of the genitourinary system	10585	POMT1	ORPHA:370968
HP:0000119	Abnormality of the genitourinary system	55777	MBD5	OMIM:156200
HP:0000119	Abnormality of the genitourinary system	8925	HERC1	ORPHA:457359
HP:0000119	Abnormality of the genitourinary system	51132	RLIM	OMIM:300978
HP:0000119	Abnormality of the genitourinary system	7874	USP7	OMIM:616863
HP:0000119	Abnormality of the genitourinary system	7874	USP7	ORPHA:500055
HP:0000119	Abnormality of the genitourinary system	1000	CDH2	OMIM:618929
HP:0000119	Abnormality of the genitourinary system	80311	KLHL15	OMIM:300982
HP:0000119	Abnormality of the genitourinary system	1641	DCX	OMIM:300067
HP:0000119	Abnormality of the genitourinary system	7317	UBA1	OMIM:301830
HP:0000119	Abnormality of the genitourinary system	55210	ATAD3A	OMIM:618810
HP:0000119	Abnormality of the genitourinary system	57187	THOC2	ORPHA:457240
HP:0000119	Abnormality of the genitourinary system	9851	KIAA0753	OMIM:619479
HP:0000119	Abnormality of the genitourinary system	2892	GRIA3	ORPHA:364028
HP:0000119	Abnormality of the genitourinary system	340419	RSPO2	OMIM:618021
HP:0000119	Abnormality of the genitourinary system	7737	RNF113A	OMIM:300953
HP:0000119	Abnormality of the genitourinary system	6711	SPTBN1	OMIM:619475
HP:0000119	Abnormality of the genitourinary system	80152	CENPT	OMIM:618702
HP:0000119	Abnormality of the genitourinary system	80036	TRPM3	OMIM:620224
HP:0000119	Abnormality of the genitourinary system	51317	PHF21A	ORPHA:52022
HP:0000119	Abnormality of the genitourinary system	8567	MADD	OMIM:619004
HP:0000119	Abnormality of the genitourinary system	8567	MADD	OMIM:619005
HP:0000119	Abnormality of the genitourinary system	202018	TAPT1	OMIM:616897
HP:0000119	Abnormality of the genitourinary system	4047	LSS	OMIM:618840
HP:0000119	Abnormality of the genitourinary system	23247	KATNIP	OMIM:616784
HP:0000119	Abnormality of the genitourinary system	1968	EIF2S3	ORPHA:85282
HP:0000119	Abnormality of the genitourinary system	1968	EIF2S3	OMIM:300148
HP:0000119	Abnormality of the genitourinary system	523	ATP6V1A	OMIM:617403
HP:0000119	Abnormality of the genitourinary system	529	ATP6V1E1	OMIM:617402
HP:0000119	Abnormality of the genitourinary system	3981	LIG4	ORPHA:235
HP:0000119	Abnormality of the genitourinary system	54888	NSUN2	ORPHA:235
HP:0000119	Abnormality of the genitourinary system	5144	PDE4D	ORPHA:950
HP:0000119	Abnormality of the genitourinary system	7852	CXCR4	OMIM:193670
HP:0000119	Abnormality of the genitourinary system	5116	PCNT	ORPHA:2637
HP:0000119	Abnormality of the genitourinary system	10664	CTCF	ORPHA:363611
HP:0000119	Abnormality of the genitourinary system	2100	ESR2	OMIM:618187
HP:0000119	Abnormality of the genitourinary system	29957	SLC25A24	OMIM:612289
HP:0000119	Abnormality of the genitourinary system	23347	SMCHD1	OMIM:603457
HP:0000119	Abnormality of the genitourinary system	9896	FIG4	ORPHA:3472
HP:0000119	Abnormality of the genitourinary system	55697	VAC14	ORPHA:3472
HP:0000119	Abnormality of the genitourinary system	89910	UBE3B	OMIM:244450
HP:0000119	Abnormality of the genitourinary system	9427	ECEL1	OMIM:615065
HP:0000119	Abnormality of the genitourinary system	4920	ROR2	OMIM:268310
HP:0000119	Abnormality of the genitourinary system	55012	PPP2R3C	OMIM:618419
HP:0000119	Abnormality of the genitourinary system	25886	POC1A	OMIM:614813
HP:0000119	Abnormality of the genitourinary system	6913	TBX15	OMIM:260660
HP:0000119	Abnormality of the genitourinary system	1588	CYP19A1	ORPHA:91
HP:0000119	Abnormality of the genitourinary system	6662	SOX9	ORPHA:393
HP:0000119	Abnormality of the genitourinary system	6662	SOX9	ORPHA:140
HP:0000119	Abnormality of the genitourinary system	6662	SOX9	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	6662	SOX9	ORPHA:2138
HP:0000119	Abnormality of the genitourinary system	6658	SOX3	ORPHA:393
HP:0000119	Abnormality of the genitourinary system	190	NR0B1	ORPHA:393
HP:0000119	Abnormality of the genitourinary system	190	NR0B1	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	28981	IFT81	OMIM:617895
HP:0000119	Abnormality of the genitourinary system	4750	NEK1	OMIM:263520
HP:0000119	Abnormality of the genitourinary system	7026	NR2F2	OMIM:618901
HP:0000119	Abnormality of the genitourinary system	117581	TWIST2	OMIM:200110
HP:0000119	Abnormality of the genitourinary system	117581	TWIST2	ORPHA:920
HP:0000119	Abnormality of the genitourinary system	1646	AKR1C2	OMIM:614279
HP:0000119	Abnormality of the genitourinary system	1109	AKR1C4	OMIM:614279
HP:0000119	Abnormality of the genitourinary system	22858	CILK1	OMIM:612651
HP:0000119	Abnormality of the genitourinary system	1584	CYP11B1	ORPHA:90795
HP:0000119	Abnormality of the genitourinary system	170302	ARX	ORPHA:452
HP:0000119	Abnormality of the genitourinary system	170302	ARX	OMIM:300215
HP:0000119	Abnormality of the genitourinary system	2260	FGFR1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	28514	DLL1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	2253	FGF8	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	6496	SIX3	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	7050	TGIF1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	6469	SHH	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	51684	SUFU	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	7546	ZIC2	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	2619	GAS1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	84976	DISP1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	2736	GLI2	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	8928	FOXH1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	5727	PTCH1	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	50937	CDON	ORPHA:280200
HP:0000119	Abnormality of the genitourinary system	7259	TSPYL1	ORPHA:168593
HP:0000119	Abnormality of the genitourinary system	23414	ZFPM2	OMIM:616067
HP:0000119	Abnormality of the genitourinary system	23414	ZFPM2	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	114034	TOE1	OMIM:614969
HP:0000119	Abnormality of the genitourinary system	114034	TOE1	ORPHA:284339
HP:0000119	Abnormality of the genitourinary system	284654	RSPO1	OMIM:610644
HP:0000119	Abnormality of the genitourinary system	1528	CYB5A	OMIM:250790
HP:0000119	Abnormality of the genitourinary system	54539	NDUFB11	ORPHA:2556
HP:0000119	Abnormality of the genitourinary system	1349	COX7B	ORPHA:2556
HP:0000119	Abnormality of the genitourinary system	3052	HCCS	ORPHA:2556
HP:0000119	Abnormality of the genitourinary system	9184	BUB3	ORPHA:1052
HP:0000119	Abnormality of the genitourinary system	699	BUB1	ORPHA:1052
HP:0000119	Abnormality of the genitourinary system	9702	CEP57	ORPHA:1052
HP:0000119	Abnormality of the genitourinary system	701	BUB1B	ORPHA:1052
HP:0000119	Abnormality of the genitourinary system	701	BUB1B	OMIM:257300
HP:0000119	Abnormality of the genitourinary system	2626	GATA4	OMIM:615542
HP:0000119	Abnormality of the genitourinary system	2626	GATA4	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	6845	VAMP7	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	51741	WWOX	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	4214	MAP3K1	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	58524	DMRT3	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	57647	DHX37	ORPHA:251510
HP:0000119	Abnormality of the genitourinary system	57647	DHX37	ORPHA:983
HP:0000119	Abnormality of the genitourinary system	3293	HSD17B3	ORPHA:752
HP:0000119	Abnormality of the genitourinary system	348180	CTU2	OMIM:618142
HP:0000119	Abnormality of the genitourinary system	3481	IGF2	OMIM:616489
HP:0000119	Abnormality of the genitourinary system	150468	CKAP2L	OMIM:272440
HP:0000119	Abnormality of the genitourinary system	526	ATP6V1B2	ORPHA:79500
HP:0000119	Abnormality of the genitourinary system	57465	TBC1D24	ORPHA:79500
HP:0000119	Abnormality of the genitourinary system	1718	DHCR24	ORPHA:35107
HP:0000119	Abnormality of the genitourinary system	2232	FDXR	ORPHA:543470
HP:0000119	Abnormality of the genitourinary system	10293	TRAIP	OMIM:616777
HP:0000119	Abnormality of the genitourinary system	627	BDNF	ORPHA:893
HP:0000119	Abnormality of the genitourinary system	745	MYRF	OMIM:618280
HP:0000119	Abnormality of the genitourinary system	3284	HSD3B2	OMIM:201810
HP:0000119	Abnormality of the genitourinary system	3664	IRF6	ORPHA:1300
HP:0000119	Abnormality of the genitourinary system	29893	PSMC3IP	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	171568	POLR3H	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	125150	ZSWIM7	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	9210	BMP15	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	23514	SPIDR	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	2492	FSHR	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	646	BNC1	ORPHA:243
HP:0000119	Abnormality of the genitourinary system	9562	MINPP1	ORPHA:284339
HP:0000119	Abnormality of the genitourinary system	1586	CYP17A1	OMIM:202110
HP:0000119	Abnormality of the genitourinary system	6716	SRD5A2	ORPHA:753
HP:0000119	Abnormality of the genitourinary system	471	ATIC	ORPHA:250977
HP:0000119	Abnormality of the genitourinary system	471	ATIC	OMIM:608688
HP:0000119	Abnormality of the genitourinary system	6638	SNRPN	ORPHA:177904
HP:0000119	Abnormality of the genitourinary system	6638	SNRPN	ORPHA:177901
HP:0000119	Abnormality of the genitourinary system	6638	SNRPN	ORPHA:98754
HP:0000119	Abnormality of the genitourinary system	4692	NDN	ORPHA:177904
HP:0000119	Abnormality of the genitourinary system	4692	NDN	ORPHA:177901
HP:0000119	Abnormality of the genitourinary system	4692	NDN	ORPHA:98754
HP:0000119	Abnormality of the genitourinary system	54551	MAGEL2	ORPHA:177904
HP:0000119	Abnormality of the genitourinary system	54551	MAGEL2	ORPHA:177901
HP:0000119	Abnormality of the genitourinary system	54551	MAGEL2	ORPHA:398069
HP:0000119	Abnormality of the genitourinary system	54551	MAGEL2	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	54551	MAGEL2	ORPHA:98754
HP:0000119	Abnormality of the genitourinary system	4948	OCA2	ORPHA:177904
HP:0000119	Abnormality of the genitourinary system	4948	OCA2	ORPHA:177901
HP:0000119	Abnormality of the genitourinary system	4948	OCA2	ORPHA:98754
HP:0000119	Abnormality of the genitourinary system	2571	GAD1	OMIM:619124
HP:0000119	Abnormality of the genitourinary system	4998	ORC1	OMIM:224690
HP:0000119	Abnormality of the genitourinary system	4998	ORC1	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	1857	DVL3	ORPHA:3107
HP:0000119	Abnormality of the genitourinary system	7474	WNT5A	ORPHA:3107
HP:0000119	Abnormality of the genitourinary system	1855	DVL1	ORPHA:3107
HP:0000119	Abnormality of the genitourinary system	22931	RAB18	OMIM:614222
HP:0000119	Abnormality of the genitourinary system	22931	RAB18	ORPHA:2510
HP:0000119	Abnormality of the genitourinary system	6492	SIM1	ORPHA:398079
HP:0000119	Abnormality of the genitourinary system	60	ACTB	ORPHA:64755
HP:0000119	Abnormality of the genitourinary system	23594	ORC6	OMIM:613803
HP:0000119	Abnormality of the genitourinary system	23594	ORC6	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	81620	CDT1	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	8318	CDC45	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	990	CDC6	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	51053	GMNN	ORPHA:2554
HP:0000119	Abnormality of the genitourinary system	22930	RAB3GAP1	ORPHA:2510
HP:0000119	Abnormality of the genitourinary system	25782	RAB3GAP2	ORPHA:2510
HP:0000119	Abnormality of the genitourinary system	128637	TBC1D20	ORPHA:2510
HP:0000119	Abnormality of the genitourinary system	7681	MKRN3	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	3653	IPW	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	791114	PWRN1	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	100033413	SNORD116-1	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	8924	HERC2	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	145624	PWAR1	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	23742	NPAP1	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	338433	SNORD115-1	OMIM:176270
HP:0000119	Abnormality of the genitourinary system	3643	INSR	ORPHA:508
HP:0000119	Abnormality of the genitourinary system	57061	HYMAI	ORPHA:96191
HP:0000119	Abnormality of the genitourinary system	5325	PLAGL1	ORPHA:96191
HP:0000119	Abnormality of the genitourinary system	26580	BSCL2	OMIM:269700
HP:0000119	Abnormality of the genitourinary system	10555	AGPAT2	OMIM:608594
HP:0000119	Abnormality of the genitourinary system	2535	FZD2	OMIM:164745
HP:0000119	Abnormality of the genitourinary system	10236	HNRNPR	OMIM:620073
HP:0000119	Abnormality of the genitourinary system	23522	KAT6B	OMIM:606170
HP:0000119	Abnormality of the genitourinary system	5000	ORC4	OMIM:613800
HP:0000119	Abnormality of the genitourinary system	84314	TMEM107	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	79867	TCTN2	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	80776	B9D2	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	79600	TCTN1	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	57096	RPGRIP1	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	79770	TXNDC15	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	27077	B9D1	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	54903	MKS1	ORPHA:564
HP:0000119	Abnormality of the genitourinary system	7473	WNT3	OMIM:273395
HP:0000119	Abnormality of the genitourinary system	134701	RIPPLY2	ORPHA:2311
HP:0000119	Abnormality of the genitourinary system	10683	DLL3	ORPHA:2311
HP:0000119	Abnormality of the genitourinary system	3955	LFNG	ORPHA:2311
HP:0000119	Abnormality of the genitourinary system	84667	HES7	ORPHA:2311
HP:0000119	Abnormality of the genitourinary system	145873	MESP2	ORPHA:2311
HP:0000119	Abnormality of the genitourinary system	6794	STK11	OMIM:175200
HP:0000119	Abnormality of the genitourinary system	6794	STK11	ORPHA:2869
HP:0000119	Abnormality of the genitourinary system	2314	FLII	ORPHA:819
HP:0000119	Abnormality of the genitourinary system	23096	IQSEC2	ORPHA:819
HP:0000119	Abnormality of the genitourinary system	10522	DEAF1	ORPHA:819
HP:0000119	Abnormality of the genitourinary system	5818	NECTIN1	ORPHA:3253
HP:0000119	Abnormality of the genitourinary system	5190	PEX6	OMIM:614863
HP:0000119	Abnormality of the genitourinary system	10982	MAPRE2	OMIM:616734
HP:0000119	Abnormality of the genitourinary system	6792	CDKL5	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	3736	KCNA1	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	2775	GNAO1	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	2902	GRIN1	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	79751	SLC25A22	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	150094	SIK1	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	8573	CASK	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	23312	DMXL2	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	2917	GRM7	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	11284	PNKP	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	6326	SCN2A	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	51227	PIGP	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	6324	SCN1B	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	4761	NEUROD2	ORPHA:1934
HP:0000119	Abnormality of the genitourinary system	1009	CDH11	ORPHA:1299
HP:0000119	Abnormality of the genitourinary system	5337	PLD1	OMIM:212093
HP:0000119	Abnormality of the genitourinary system	9653	HS2ST1	OMIM:619194
HP:0000119	Abnormality of the genitourinary system	2294	FOXF1	OMIM:265380
HP:0000119	Abnormality of the genitourinary system	4638	MYLK	OMIM:249210
HP:0000119	Abnormality of the genitourinary system	4638	MYLK	ORPHA:2241
HP:0000119	Abnormality of the genitourinary system	1909	EDNRA	OMIM:616367
HP:0000119	Abnormality of the genitourinary system	8195	MKKS	OMIM:236700
HP:0000119	Abnormality of the genitourinary system	51715	RAB23	OMIM:201000
HP:0000119	Abnormality of the genitourinary system	25802	LMOD1	OMIM:619362
HP:0000119	Abnormality of the genitourinary system	25802	LMOD1	ORPHA:2241
HP:0000119	Abnormality of the genitourinary system	4629	MYH11	ORPHA:2241
HP:0000119	Abnormality of the genitourinary system	56975	FAM20C	OMIM:259775
HP:0000119	Abnormality of the genitourinary system	64321	SOX17	OMIM:613674
HP:0000119	Abnormality of the genitourinary system	71	ACTG1	ORPHA:2995
HP:0000119	Abnormality of the genitourinary system	166379	BBS12	OMIM:615989
HP:0000119	Abnormality of the genitourinary system	8312	AXIN1	OMIM:607864
HP:0000119	Abnormality of the genitourinary system	2239	GPC4	ORPHA:373
HP:0000119	Abnormality of the genitourinary system	2719	GPC3	ORPHA:373
HP:0000119	Abnormality of the genitourinary system	388662	SLC6A17	ORPHA:457212
HP:0000119	Abnormality of the genitourinary system	4000	LMNA	ORPHA:1662
HP:0000119	Abnormality of the genitourinary system	10269	ZMPSTE24	ORPHA:1662
HP:0000119	Abnormality of the genitourinary system	10269	ZMPSTE24	OMIM:275210
HP:0000119	Abnormality of the genitourinary system	2627	GATA6	ORPHA:2255
HP:0000119	Abnormality of the genitourinary system	2627	GATA6	OMIM:600001
HP:0000119	Abnormality of the genitourinary system	10653	SPINT2	OMIM:270420
HP:0000119	Abnormality of the genitourinary system	7528	YY1	ORPHA:506358
HP:0000119	Abnormality of the genitourinary system	7528	YY1	OMIM:617557
HP:0000119	Abnormality of the genitourinary system	7355	SLC35A2	OMIM:300896
HP:0000119	Abnormality of the genitourinary system	2972	BRF1	ORPHA:444072
HP:0000119	Abnormality of the genitourinary system	7750	ZMYM2	OMIM:619522
HP:0000119	Abnormality of the genitourinary system	2782	GNB1	OMIM:616973
HP:0000119	Abnormality of the genitourinary system	10861	SLC26A1	OMIM:167030
HP:0000119	Abnormality of the genitourinary system	3655	ITGA6	ORPHA:79403
HP:0000119	Abnormality of the genitourinary system	10617	STAMBP	OMIM:614261
HP:0000119	Abnormality of the genitourinary system	8294	H4C9	OMIM:619951
HP:0000119	Abnormality of the genitourinary system	26128	KIFBP	OMIM:609460
HP:0000119	Abnormality of the genitourinary system	23556	PIGN	ORPHA:2059
HP:0000119	Abnormality of the genitourinary system	23556	PIGN	OMIM:614080
HP:0000119	Abnormality of the genitourinary system	5361	PLXNA1	OMIM:619955
HP:0000119	Abnormality of the genitourinary system	3190	HNRNPK	ORPHA:453504
HP:0000119	Abnormality of the genitourinary system	3190	HNRNPK	OMIM:616580
HP:0000119	Abnormality of the genitourinary system	3190	HNRNPK	ORPHA:352665
HP:0000119	Abnormality of the genitourinary system	4281	MID1	OMIM:300000
HP:0000119	Abnormality of the genitourinary system	4281	MID1	ORPHA:2745
HP:0000119	Abnormality of the genitourinary system	51506	UFC1	OMIM:618076
HP:0000119	Abnormality of the genitourinary system	72	ACTG2	ORPHA:2604
HP:0000119	Abnormality of the genitourinary system	72	ACTG2	OMIM:155310
HP:0000119	Abnormality of the genitourinary system	9915	ARNT2	OMIM:615926
HP:0000119	Abnormality of the genitourinary system	284058	KANSL1	ORPHA:363958
HP:0000119	Abnormality of the genitourinary system	284058	KANSL1	ORPHA:363965
HP:0000119	Abnormality of the genitourinary system	284058	KANSL1	OMIM:610443
HP:0000119	Abnormality of the genitourinary system	1136	CHRNA3	OMIM:191800
HP:0000119	Abnormality of the genitourinary system	10616	RBCK1	OMIM:615895
HP:0000119	Abnormality of the genitourinary system	7080	NKX2-1	ORPHA:209905
HP:0000119	Abnormality of the genitourinary system	3670	ISL1	ORPHA:93930
HP:0000119	Abnormality of the genitourinary system	1656	DDX6	OMIM:618653
HP:0000119	Abnormality of the genitourinary system	5718	PSMD12	ORPHA:529962
HP:0000119	Abnormality of the genitourinary system	2186	BPTF	ORPHA:529962
HP:0000119	Abnormality of the genitourinary system	57178	ZMIZ1	OMIM:618659
HP:0000119	Abnormality of the genitourinary system	8550	MAPKAPK5	OMIM:619869
HP:0000119	Abnormality of the genitourinary system	5062	PAK2	ORPHA:1571
HP:0000119	Abnormality of the genitourinary system	253738	EBF3	OMIM:617330
HP:0000119	Abnormality of the genitourinary system	5530	PPP3CA	OMIM:618265
HP:0000119	Abnormality of the genitourinary system	9091	PIGQ	OMIM:618548
HP:0000119	Abnormality of the genitourinary system	84720	PIGO	OMIM:614749
HP:0000119	Abnormality of the genitourinary system	8405	SPOP	OMIM:618828
HP:0000119	Abnormality of the genitourinary system	2131	EXT1	ORPHA:502
HP:0000119	Abnormality of the genitourinary system	7227	TRPS1	ORPHA:502
HP:0000119	Abnormality of the genitourinary system	253959	RALGAPA1	OMIM:618797
HP:0000119	Abnormality of the genitourinary system	2316	FLNA	ORPHA:2484
HP:0000119	Abnormality of the genitourinary system	11128	POLR3A	ORPHA:3455
HP:0000119	Abnormality of the genitourinary system	1028	CDKN1C	OMIM:130650
HP:0000119	Abnormality of the genitourinary system	10984	KCNQ1OT1	OMIM:130650
HP:0000119	Abnormality of the genitourinary system	3784	KCNQ1	OMIM:130650
HP:0000119	Abnormality of the genitourinary system	644096	SDHAF1	ORPHA:3208
HP:0000119	Abnormality of the genitourinary system	4052	LTBP1	ORPHA:90349
HP:0000119	Abnormality of the genitourinary system	30008	EFEMP2	ORPHA:90349
HP:0000119	Abnormality of the genitourinary system	10516	FBLN5	ORPHA:90349
HP:0000119	Abnormality of the genitourinary system	9276	COPB2	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	11113	CIT	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	22995	CEP152	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	284403	WDR62	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	55262	TRAPPC14	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	163786	SASS6	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	29920	PYCR2	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	84879	MFSD2A	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	4176	MCM7	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	80254	CEP63	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	29081	METTL5	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	23310	NCAPD3	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	55755	CDK5RAP2	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	79648	MCPH1	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	6491	STIL	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	23141	ANKLE2	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	259266	ASPM	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	7109	TRAPPC10	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	1911	PHC1	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	6884	TAF13	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	9662	CEP135	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	55835	CENPJ	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	57082	KNL1	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	1021	CDK6	ORPHA:2512
HP:0000119	Abnormality of the genitourinary system	171023	ASXL1	OMIM:605039
HP:0000119	Abnormality of the genitourinary system	3767	KCNJ11	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	3767	KCNJ11	ORPHA:99886
HP:0000119	Abnormality of the genitourinary system	8462	KLF11	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	2645	GCK	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	26060	APPL1	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	640	BLK	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	1056	CEL	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	4760	NEUROD1	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	3651	PDX1	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	6833	ABCC8	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	6833	ABCC8	ORPHA:99886
HP:0000119	Abnormality of the genitourinary system	5078	PAX4	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	6927	HNF1A	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	3630	INS	ORPHA:552
HP:0000119	Abnormality of the genitourinary system	324	APC	ORPHA:261584
HP:0000119	Abnormality of the genitourinary system	85358	SHANK3	OMIM:606232
HP:0000119	Abnormality of the genitourinary system	6888	TALDO1	ORPHA:101028
HP:0000119	Abnormality of the genitourinary system	54968	TMEM70	ORPHA:1194
HP:0000119	Abnormality of the genitourinary system	1723	DHODH	OMIM:263750
HP:0000119	Abnormality of the genitourinary system	123016	TTC8	OMIM:613464
HP:0000119	Abnormality of the genitourinary system	6812	STXBP1	ORPHA:495818
HP:0000119	Abnormality of the genitourinary system	2033	EP300	ORPHA:353284
HP:0000119	Abnormality of the genitourinary system	346171	ZFP57	ORPHA:99886
HP:0000119	Abnormality of the genitourinary system	79140	CCDC28B	OMIM:209900
HP:0000119	Abnormality of the genitourinary system	582	BBS1	OMIM:209900
HP:0000119	Abnormality of the genitourinary system	5567	PRKACB	ORPHA:289
HP:0000119	Abnormality of the genitourinary system	2735	GLI1	ORPHA:289
HP:0000119	Abnormality of the genitourinary system	2121	EVC	ORPHA:289
HP:0000119	Abnormality of the genitourinary system	132884	EVC2	ORPHA:289
HP:0000119	Abnormality of the genitourinary system	10483	SEC23B	ORPHA:201
HP:0000119	Abnormality of the genitourinary system	5728	PTEN	ORPHA:201
HP:0000119	Abnormality of the genitourinary system	207	AKT1	ORPHA:201
HP:0000119	Abnormality of the genitourinary system	205717	USF3	ORPHA:201
HP:0000119	Abnormality of the genitourinary system	100144748	KLLN	ORPHA:201
HP:0000119	Abnormality of the genitourinary system	9401	RECQL4	OMIM:218600
HP:0000119	Abnormality of the genitourinary system	10815	CPLX1	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	54872	PIGG	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	7469	NELFA	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	1487	CTBP1	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	3954	LETM1	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	7468	NSD2	ORPHA:280
HP:0000119	Abnormality of the genitourinary system	92949	ADAMTSL1	ORPHA:521445
HP:0000119	Abnormality of the genitourinary system	392255	GDF6	OMIM:118100
HP:0000119	Abnormality of the genitourinary system	5590	PRKCZ	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	2563	GABRD	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	23013	SPEN	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	8510	MMP23B	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	7798	LUZP1	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	6497	SKI	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	10630	PDPN	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	3339	HSPG2	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	10277	UBE4B	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	8514	KCNAB2	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	473	RERE	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	63976	PRDM16	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	54897	CASZ1	ORPHA:1606
HP:0000119	Abnormality of the genitourinary system	58508	KMT2C	ORPHA:261652
HP:0000119	Abnormality of the genitourinary system	27086	FOXP1	ORPHA:391372
HP:0000119	Abnormality of the genitourinary system	91949	COG7	ORPHA:79333
HP:0000119	Abnormality of the genitourinary system	4286	MITF	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	7299	TYR	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	6591	SNAI2	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	1910	EDNRB	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	4254	KITLG	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	6663	SOX10	ORPHA:895
HP:0000119	Abnormality of the genitourinary system	4854	NOTCH3	ORPHA:2591
HP:0000119	Abnormality of the genitourinary system	5159	PDGFRB	ORPHA:2591
HP:0000119	Abnormality of the genitourinary system	1387	CREBBP	ORPHA:353277
HP:0000119	Abnormality of the genitourinary system	10736	SIX2	ORPHA:488437
HP:0000119	Abnormality of the genitourinary system	585	BBS4	OMIM:615982
HP:0000119	Abnormality of the genitourinary system	55315	SLC29A3	ORPHA:168569
HP:0000119	Abnormality of the genitourinary system	22954	TRIM32	OMIM:615988
HP:0000119	Abnormality of the genitourinary system	6660	SOX5	ORPHA:313892
HP:0000119	Abnormality of the genitourinary system	201595	STT3B	ORPHA:370924
HP:0000119	Abnormality of the genitourinary system	22800	RRAS2	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	867	CBL	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	8216	LZTR1	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	6016	RIT1	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	6237	RRAS	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	5894	RAF1	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	5894	RAF1	ORPHA:500
HP:0000119	Abnormality of the genitourinary system	22808	MRAS	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	200734	SPRED2	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	6654	SOS1	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	6655	SOS2	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	5781	PTPN11	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	5781	PTPN11	ORPHA:500
HP:0000119	Abnormality of the genitourinary system	5922	RASA2	ORPHA:648
HP:0000119	Abnormality of the genitourinary system	5426	POLE	ORPHA:85173
HP:0000119	Abnormality of the genitourinary system	2108	ETFA	OMIM:231680
HP:0000119	Abnormality of the genitourinary system	2109	ETFB	OMIM:231680
HP:0000119	Abnormality of the genitourinary system	2110	ETFDH	OMIM:231680
HP:0000119	Abnormality of the genitourinary system	2067	ERCC1	OMIM:610758
HP:0000119	Abnormality of the genitourinary system	9420	CYP7B1	ORPHA:100986
HP:0000119	Abnormality of the genitourinary system	51604	PIGT	ORPHA:369837
HP:0000119	Abnormality of the genitourinary system	493856	CISD2	ORPHA:3463
HP:0000119	Abnormality of the genitourinary system	7466	WFS1	ORPHA:3463
HP:0000119	Abnormality of the genitourinary system	1308	COL17A1	ORPHA:79406
HP:0000119	Abnormality of the genitourinary system	183	AGT	OMIM:267430
HP:0000119	Abnormality of the genitourinary system	185	AGTR1	OMIM:267430
HP:0000119	Abnormality of the genitourinary system	1636	ACE	OMIM:267430
HP:0000119	Abnormality of the genitourinary system	10342	TFG	ORPHA:90117
HP:0000119	Abnormality of the genitourinary system	10743	RAI1	OMIM:182290
HP:0000119	Abnormality of the genitourinary system	5921	RASA1	ORPHA:90307
HP:0000119	Abnormality of the genitourinary system	2583	B4GALNT1	ORPHA:101006
HP:0000119	Abnormality of the genitourinary system	8036	SHOC2	OMIM:607721
HP:0000119	Abnormality of the genitourinary system	3376	IARS1	OMIM:617093
HP:0000119	Abnormality of the genitourinary system	3376	IARS1	ORPHA:541423
HP:0000119	Abnormality of the genitourinary system	23126	POGZ	OMIM:616364
HP:0000119	Abnormality of the genitourinary system	23126	POGZ	ORPHA:468678
HP:0000119	Abnormality of the genitourinary system	9487	PIGL	OMIM:280000
HP:0000119	Abnormality of the genitourinary system	9894	TELO2	ORPHA:488642
HP:0000119	Abnormality of the genitourinary system	8626	TP63	OMIM:604292
HP:0000119	Abnormality of the genitourinary system	55593	OTUD5	OMIM:301056
HP:0000119	Abnormality of the genitourinary system	80781	COL18A1	OMIM:267750
HP:0000119	Abnormality of the genitourinary system	3909	LAMA3	ORPHA:79404
HP:0000119	Abnormality of the genitourinary system	3918	LAMC2	ORPHA:79404
HP:0000119	Abnormality of the genitourinary system	3914	LAMB3	ORPHA:79404
HP:0000119	Abnormality of the genitourinary system	5700	PSMC1	OMIM:620071
HP:0000119	Abnormality of the genitourinary system	5594	MAPK1	OMIM:619087
HP:0000119	Abnormality of the genitourinary system	7148	TNXB	OMIM:615963
HP:0000119	Abnormality of the genitourinary system	8085	KMT2D	ORPHA:2322
HP:0000119	Abnormality of the genitourinary system	26191	PTPN22	ORPHA:397
HP:0000119	Abnormality of the genitourinary system	26191	PTPN22	ORPHA:900
HP:0000119	Abnormality of the genitourinary system	3106	HLA-B	ORPHA:397
HP:0000119	Abnormality of the genitourinary system	3106	HLA-B	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	3106	HLA-B	ORPHA:36426
HP:0000119	Abnormality of the genitourinary system	3123	HLA-DRB1	ORPHA:397
HP:0000119	Abnormality of the genitourinary system	3123	HLA-DRB1	ORPHA:797
HP:0000119	Abnormality of the genitourinary system	3123	HLA-DRB1	ORPHA:220393
HP:0000119	Abnormality of the genitourinary system	8974	P4HA2	ORPHA:397
HP:0000119	Abnormality of the genitourinary system	51726	DNAJB11	OMIM:618061
HP:0000119	Abnormality of the genitourinary system	51726	DNAJB11	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	4594	MMUT	ORPHA:289916
HP:0000119	Abnormality of the genitourinary system	4594	MMUT	ORPHA:79312
HP:0000119	Abnormality of the genitourinary system	355	FAS	ORPHA:3261
HP:0000119	Abnormality of the genitourinary system	355	FAS	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	356	FASLG	ORPHA:3261
HP:0000119	Abnormality of the genitourinary system	5580	PRKCD	ORPHA:3261
HP:0000119	Abnormality of the genitourinary system	843	CASP10	ORPHA:3261
HP:0000119	Abnormality of the genitourinary system	10125	RASGRP1	ORPHA:3261
HP:0000119	Abnormality of the genitourinary system	9860	LRIG2	OMIM:615112
HP:0000119	Abnormality of the genitourinary system	9860	LRIG2	ORPHA:2704
HP:0000119	Abnormality of the genitourinary system	8518	ELP1	ORPHA:1764
HP:0000119	Abnormality of the genitourinary system	4010	LMX1B	ORPHA:2613
HP:0000119	Abnormality of the genitourinary system	4010	LMX1B	ORPHA:2614
HP:0000119	Abnormality of the genitourinary system	4010	LMX1B	OMIM:161200
HP:0000119	Abnormality of the genitourinary system	4010	LMX1B	OMIM:256020
HP:0000119	Abnormality of the genitourinary system	5631	PRPS1	ORPHA:411543
HP:0000119	Abnormality of the genitourinary system	5631	PRPS1	ORPHA:411536
HP:0000119	Abnormality of the genitourinary system	5631	PRPS1	OMIM:300661
HP:0000119	Abnormality of the genitourinary system	3209	HOXA13	OMIM:140000
HP:0000119	Abnormality of the genitourinary system	84942	WDR73	OMIM:251300
HP:0000119	Abnormality of the genitourinary system	84942	WDR73	ORPHA:83472
HP:0000119	Abnormality of the genitourinary system	1131	CHRM3	ORPHA:2970
HP:0000119	Abnormality of the genitourinary system	81839	VANGL1	ORPHA:3027
HP:0000119	Abnormality of the genitourinary system	80199	FUZ	ORPHA:3027
HP:0000119	Abnormality of the genitourinary system	4867	NPHP1	OMIM:609583
HP:0000119	Abnormality of the genitourinary system	4867	NPHP1	OMIM:266900
HP:0000119	Abnormality of the genitourinary system	4867	NPHP1	ORPHA:220497
HP:0000119	Abnormality of the genitourinary system	64324	NSD1	ORPHA:821
HP:0000119	Abnormality of the genitourinary system	29072	SETD2	ORPHA:821
HP:0000119	Abnormality of the genitourinary system	10297	APC2	ORPHA:821
HP:0000119	Abnormality of the genitourinary system	79848	CSPP1	ORPHA:397715
HP:0000119	Abnormality of the genitourinary system	9786	KIAA0586	ORPHA:397715
HP:0000119	Abnormality of the genitourinary system	11136	SLC7A9	OMIM:220100
HP:0000119	Abnormality of the genitourinary system	6519	SLC3A1	OMIM:220100
HP:0000119	Abnormality of the genitourinary system	23607	CD2AP	OMIM:607832
HP:0000119	Abnormality of the genitourinary system	4312	MMP1	ORPHA:79408
HP:0000119	Abnormality of the genitourinary system	1294	COL7A1	ORPHA:79408
HP:0000119	Abnormality of the genitourinary system	79577	CDC73	ORPHA:143
HP:0000119	Abnormality of the genitourinary system	79577	CDC73	ORPHA:99880
HP:0000119	Abnormality of the genitourinary system	79577	CDC73	ORPHA:99879
HP:0000119	Abnormality of the genitourinary system	4311	MME	ORPHA:69063
HP:0000119	Abnormality of the genitourinary system	9380	GRHPR	OMIM:260000
HP:0000119	Abnormality of the genitourinary system	9380	GRHPR	ORPHA:93599
HP:0000119	Abnormality of the genitourinary system	23322	RPGRIP1L	ORPHA:220497
HP:0000119	Abnormality of the genitourinary system	23322	RPGRIP1L	ORPHA:1454
HP:0000119	Abnormality of the genitourinary system	23322	RPGRIP1L	OMIM:619113
HP:0000119	Abnormality of the genitourinary system	65062	TMEM237	ORPHA:220497
HP:0000119	Abnormality of the genitourinary system	65062	TMEM237	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	79947	DHDDS	OMIM:613861
HP:0000119	Abnormality of the genitourinary system	9640	ZNF592	ORPHA:83472
HP:0000119	Abnormality of the genitourinary system	6523	SLC5A1	ORPHA:35710
HP:0000119	Abnormality of the genitourinary system	9382	COG1	OMIM:611209
HP:0000119	Abnormality of the genitourinary system	4868	NPHS1	OMIM:256300
HP:0000119	Abnormality of the genitourinary system	55034	MOCOS	OMIM:603592
HP:0000119	Abnormality of the genitourinary system	23193	GANAB	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	5310	PKD1	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	5310	PKD1	OMIM:173900
HP:0000119	Abnormality of the genitourinary system	5311	PKD2	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	5311	PKD2	OMIM:613095
HP:0000119	Abnormality of the genitourinary system	29880	ALG5	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	29880	ALG5	OMIM:620056
HP:0000119	Abnormality of the genitourinary system	9742	IFT140	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	9742	IFT140	ORPHA:474
HP:0000119	Abnormality of the genitourinary system	79796	ALG9	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	80114	BICC1	ORPHA:730
HP:0000119	Abnormality of the genitourinary system	80114	BICC1	OMIM:601331
HP:0000119	Abnormality of the genitourinary system	9071	CLDN10	OMIM:617671
HP:0000119	Abnormality of the genitourinary system	81693	AMN	OMIM:618882
HP:0000119	Abnormality of the genitourinary system	3043	HBB	OMIM:603903
HP:0000119	Abnormality of the genitourinary system	8029	CUBN	OMIM:618884
HP:0000119	Abnormality of the genitourinary system	2859	GPR35	ORPHA:171
HP:0000119	Abnormality of the genitourinary system	10507	SEMA4D	ORPHA:171
HP:0000119	Abnormality of the genitourinary system	4485	MST1	ORPHA:171
HP:0000119	Abnormality of the genitourinary system	6925	TCF4	ORPHA:171
HP:0000119	Abnormality of the genitourinary system	54757	FAM20A	OMIM:204690
HP:0000119	Abnormality of the genitourinary system	54757	FAM20A	ORPHA:1031
HP:0000119	Abnormality of the genitourinary system	353	APRT	OMIM:614723
HP:0000119	Abnormality of the genitourinary system	353	APRT	ORPHA:976
HP:0000119	Abnormality of the genitourinary system	412	STS	ORPHA:281090
HP:0000119	Abnormality of the genitourinary system	7840	ALMS1	OMIM:203800
HP:0000119	Abnormality of the genitourinary system	672	BRCA1	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	10459	MAD2L2	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	7516	XRCC2	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	29089	UBE2T	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	675	BRCA2	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2177	FANCD2	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2175	FANCA	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2187	FANCB	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2176	FANCC	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2178	FANCE	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	2189	FANCG	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	5888	RAD51	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	5889	RAD51C	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	83990	BRIP1	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	57697	FANCM	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	79728	PALB2	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	84464	SLX4	ORPHA:84
HP:0000119	Abnormality of the genitourinary system	1175	AP2S1	OMIM:600740
HP:0000119	Abnormality of the genitourinary system	203286	ANKS6	OMIM:615382
HP:0000119	Abnormality of the genitourinary system	5224	PGAM2	OMIM:261670
HP:0000119	Abnormality of the genitourinary system	60495	HPSE2	ORPHA:2704
HP:0000119	Abnormality of the genitourinary system	950	SCARB2	OMIM:254900
HP:0000119	Abnormality of the genitourinary system	5230	PGK1	ORPHA:713
HP:0000119	Abnormality of the genitourinary system	5230	PGK1	OMIM:300653
HP:0000119	Abnormality of the genitourinary system	3265	HRAS	OMIM:218040
HP:0000119	Abnormality of the genitourinary system	7490	WT1	OMIM:194072
HP:0000119	Abnormality of the genitourinary system	7490	WT1	ORPHA:347
HP:0000119	Abnormality of the genitourinary system	7490	WT1	OMIM:256370
HP:0000119	Abnormality of the genitourinary system	5080	PAX6	OMIM:194072
HP:0000119	Abnormality of the genitourinary system	54345	SOX18	OMIM:137940
HP:0000119	Abnormality of the genitourinary system	26160	IFT172	ORPHA:474
HP:0000119	Abnormality of the genitourinary system	51626	DYNC2LI1	ORPHA:474
HP:0000119	Abnormality of the genitourinary system	79809	TTC21B	ORPHA:474
HP:0000119	Abnormality of the genitourinary system	1187	CLCNKA	OMIM:613090
HP:0000119	Abnormality of the genitourinary system	1188	CLCNKB	OMIM:613090
HP:0000119	Abnormality of the genitourinary system	5314	PKHD1	OMIM:263200
HP:0000119	Abnormality of the genitourinary system	5314	PKHD1	ORPHA:731
HP:0000119	Abnormality of the genitourinary system	114548	NLRP3	OMIM:191900
HP:0000119	Abnormality of the genitourinary system	10908	PNPLA6	ORPHA:2377
HP:0000119	Abnormality of the genitourinary system	1282	COL4A1	ORPHA:73229
HP:0000119	Abnormality of the genitourinary system	1282	COL4A1	OMIM:611773
HP:0000119	Abnormality of the genitourinary system	718	C3	OMIM:613779
HP:0000119	Abnormality of the genitourinary system	1493	CTLA4	ORPHA:900
HP:0000119	Abnormality of the genitourinary system	3115	HLA-DPB1	ORPHA:900
HP:0000119	Abnormality of the genitourinary system	5657	PRTN3	ORPHA:900
HP:0000119	Abnormality of the genitourinary system	3113	HLA-DPA1	ORPHA:900
HP:0000119	Abnormality of the genitourinary system	8659	ALDH4A1	ORPHA:79101
HP:0000119	Abnormality of the genitourinary system	3675	ITGA3	OMIM:614748
HP:0000119	Abnormality of the genitourinary system	4567	MT-TL1	ORPHA:225
HP:0000119	Abnormality of the genitourinary system	4556	MT-TE	ORPHA:225
HP:0000119	Abnormality of the genitourinary system	4566	MT-TK	ORPHA:225
HP:0000119	Abnormality of the genitourinary system	2138	EYA1	ORPHA:107
HP:0000119	Abnormality of the genitourinary system	147912	SIX5	ORPHA:107
HP:0000119	Abnormality of the genitourinary system	147912	SIX5	OMIM:610896
HP:0000119	Abnormality of the genitourinary system	6495	SIX1	ORPHA:107
HP:0000119	Abnormality of the genitourinary system	229	ALDOB	ORPHA:469
HP:0000119	Abnormality of the genitourinary system	56052	ALG1	ORPHA:79327
HP:0000119	Abnormality of the genitourinary system	554	AVPR2	ORPHA:223
HP:0000119	Abnormality of the genitourinary system	359	AQP2	ORPHA:223
HP:0000119	Abnormality of the genitourinary system	3931	LCAT	OMIM:245900
HP:0000119	Abnormality of the genitourinary system	3251	HPRT1	OMIM:300323
HP:0000119	Abnormality of the genitourinary system	3251	HPRT1	ORPHA:79233
HP:0000119	Abnormality of the genitourinary system	3251	HPRT1	ORPHA:510
HP:0000119	Abnormality of the genitourinary system	57169	ZNFX1	OMIM:619644
HP:0000119	Abnormality of the genitourinary system	92002	CCNQ	ORPHA:140952
HP:0000119	Abnormality of the genitourinary system	23175	LPIN1	ORPHA:99845
HP:0000119	Abnormality of the genitourinary system	4512	MT-CO1	ORPHA:99845
HP:0000119	Abnormality of the genitourinary system	4514	MT-CO3	ORPHA:99845
HP:0000119	Abnormality of the genitourinary system	9968	MED12	OMIM:301068
HP:0000119	Abnormality of the genitourinary system	7369	UMOD	OMIM:162000
HP:0000119	Abnormality of the genitourinary system	79989	IFT56	OMIM:619534
HP:0000119	Abnormality of the genitourinary system	2717	GLA	OMIM:301500
HP:0000119	Abnormality of the genitourinary system	2717	GLA	ORPHA:324
HP:0000119	Abnormality of the genitourinary system	2625	GATA3	ORPHA:2237
HP:0000119	Abnormality of the genitourinary system	54916	TMEM260	OMIM:617478
HP:0000119	Abnormality of the genitourinary system	3458	IFNG	ORPHA:805
HP:0000119	Abnormality of the genitourinary system	7248	TSC1	ORPHA:805
HP:0000119	Abnormality of the genitourinary system	7249	TSC2	ORPHA:805
HP:0000119	Abnormality of the genitourinary system	2184	FAH	OMIM:276700
HP:0000119	Abnormality of the genitourinary system	2542	SLC37A4	OMIM:232240
HP:0000119	Abnormality of the genitourinary system	286204	CRB2	OMIM:219730
HP:0000119	Abnormality of the genitourinary system	4615	MYD88	ORPHA:33226
HP:0000119	Abnormality of the genitourinary system	1376	CPT2	OMIM:255110
HP:0000119	Abnormality of the genitourinary system	1376	CPT2	OMIM:608836
HP:0000119	Abnormality of the genitourinary system	1376	CPT2	ORPHA:228302
HP:0000119	Abnormality of the genitourinary system	1376	CPT2	ORPHA:228308
HP:0000119	Abnormality of the genitourinary system	27241	BBS9	OMIM:615986
HP:0000119	Abnormality of the genitourinary system	79738	BBS10	OMIM:615987
HP:0000119	Abnormality of the genitourinary system	2934	GSN	OMIM:105120
HP:0000119	Abnormality of the genitourinary system	149233	IL23R	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	6775	STAT4	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	6775	STAT4	ORPHA:93552
HP:0000119	Abnormality of the genitourinary system	3586	IL10	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	4210	MEFV	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	4210	MEFV	OMIM:134610
HP:0000119	Abnormality of the genitourinary system	1230	CCR1	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	3592	IL12A	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	101928376	IL12A-AS1	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	7099	TLR4	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	3459	IFNGR1	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	720	C4A	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	337867	UBAC2	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	51752	ERAP1	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	8302	KLRC4	ORPHA:117
HP:0000119	Abnormality of the genitourinary system	80184	CEP290	OMIM:615991
HP:0000119	Abnormality of the genitourinary system	80184	CEP290	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	92482	BBIP1	OMIM:615995
HP:0000119	Abnormality of the genitourinary system	10806	SDCCAG8	OMIM:615993
HP:0000119	Abnormality of the genitourinary system	51259	TMEM216	OMIM:608091
HP:0000119	Abnormality of the genitourinary system	51259	TMEM216	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	3426	CFI	OMIM:610984
HP:0000119	Abnormality of the genitourinary system	6696	SPP1	ORPHA:93552
HP:0000119	Abnormality of the genitourinary system	3654	IRAK1	ORPHA:93552
HP:0000119	Abnormality of the genitourinary system	79813	EHMT1	ORPHA:96147
HP:0000119	Abnormality of the genitourinary system	1776	DNASE1L3	ORPHA:36412
HP:0000119	Abnormality of the genitourinary system	81570	CLPB	ORPHA:445038
HP:0000119	Abnormality of the genitourinary system	23729	SHPK	ORPHA:440713
HP:0000119	Abnormality of the genitourinary system	3939	LDHA	OMIM:612933
HP:0000119	Abnormality of the genitourinary system	1287	COL4A5	OMIM:301050
HP:0000119	Abnormality of the genitourinary system	23005	MAPKBP1	OMIM:617271
HP:0000119	Abnormality of the genitourinary system	10320	IKZF1	ORPHA:36426
HP:0000119	Abnormality of the genitourinary system	486	FXYD2	OMIM:154020
HP:0000119	Abnormality of the genitourinary system	1108	CHD4	OMIM:617159
HP:0000119	Abnormality of the genitourinary system	4221	MEN1	ORPHA:99879
HP:0000119	Abnormality of the genitourinary system	9247	GCM2	ORPHA:99879
HP:0000119	Abnormality of the genitourinary system	79583	TMEM231	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	51524	TMEM138	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	23090	ZNF423	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	57545	CC2D2A	ORPHA:2318
HP:0000119	Abnormality of the genitourinary system	57545	CC2D2A	ORPHA:1454
HP:0000119	Abnormality of the genitourinary system	5277	PIGA	ORPHA:447
HP:0000119	Abnormality of the genitourinary system	3291	HSD11B2	ORPHA:320
HP:0000119	Abnormality of the genitourinary system	7809	BSND	OMIM:602522
HP:0000119	Abnormality of the genitourinary system	254428	SLC41A1	OMIM:619468
HP:0000119	Abnormality of the genitourinary system	9451	EIF2AK3	OMIM:226980
HP:0000119	Abnormality of the genitourinary system	9451	EIF2AK3	ORPHA:1667
HP:0000119	Abnormality of the genitourinary system	56623	INPP5E	ORPHA:1454
HP:0000119	Abnormality of the genitourinary system	27031	NPHP3	OMIM:604387
HP:0000119	Abnormality of the genitourinary system	27031	NPHP3	OMIM:208540
HP:0000119	Abnormality of the genitourinary system	151516	ASPRV1	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	242	ALOX12B	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	126410	CYP4F22	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	6820	SULT2B1	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	26154	ABCA12	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	643418	LIPN	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	59344	ALOXE3	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	348938	NIPAL4	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	121214	SDR9C7	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	7051	TGM1	ORPHA:313
HP:0000119	Abnormality of the genitourinary system	56244	BTNL2	ORPHA:797
HP:0000119	Abnormality of the genitourinary system	23476	BRD4	ORPHA:199
HP:0000119	Abnormality of the genitourinary system	9126	SMC3	ORPHA:199
HP:0000119	Abnormality of the genitourinary system	8243	SMC1A	ORPHA:199
HP:0000119	Abnormality of the genitourinary system	55869	HDAC8	ORPHA:199
HP:0000119	Abnormality of the genitourinary system	4613	MYCN	ORPHA:391641
HP:0000119	Abnormality of the genitourinary system	6338	SCNN1B	OMIM:177200
HP:0000119	Abnormality of the genitourinary system	6338	SCNN1B	ORPHA:526
HP:0000119	Abnormality of the genitourinary system	3975	LHX1	ORPHA:261265
HP:0000119	Abnormality of the genitourinary system	4576	MT-TT	ORPHA:254857
HP:0000119	Abnormality of the genitourinary system	1285	COL4A3	OMIM:203780
HP:0000119	Abnormality of the genitourinary system	1285	COL4A3	OMIM:104200
HP:0000119	Abnormality of the genitourinary system	1286	COL4A4	OMIM:203780
HP:0000119	Abnormality of the genitourinary system	189	AGXT	OMIM:259900
HP:0000119	Abnormality of the genitourinary system	3257	HPS1	OMIM:203300
HP:0000119	Abnormality of the genitourinary system	54796	BNC2	ORPHA:93110
HP:0000119	Abnormality of the genitourinary system	2335	FN1	ORPHA:84090
HP:0000119	Abnormality of the genitourinary system	2335	FN1	OMIM:601894
HP:0000119	Abnormality of the genitourinary system	23630	KCNE5	ORPHA:86818
HP:0000119	Abnormality of the genitourinary system	2182	ACSL4	ORPHA:86818
HP:0000119	Abnormality of the genitourinary system	9949	AMMECR1	ORPHA:86818
HP:0000119	Abnormality of the genitourinary system	100147744	RNU7-1	OMIM:619487
HP:0000119	Abnormality of the genitourinary system	6569	SLC34A1	OMIM:613388
HP:0000119	Abnormality of the genitourinary system	100506658	OCLN	OMIM:251290
HP:0000119	Abnormality of the genitourinary system	50485	SMARCAL1	OMIM:242900
HP:0000119	Abnormality of the genitourinary system	199221	DZIP1L	ORPHA:731
HP:0000119	Abnormality of the genitourinary system	5264	PHYH	ORPHA:773
HP:0000119	Abnormality of the genitourinary system	5191	PEX7	ORPHA:773
HP:0000119	Abnormality of the genitourinary system	348	APOE	OMIM:611771
HP:0000119	Abnormality of the genitourinary system	25974	MMACHC	ORPHA:79282
HP:0000119	Abnormality of the genitourinary system	25974	MMACHC	OMIM:277400
HP:0000119	Abnormality of the genitourinary system	6340	SCNN1G	ORPHA:526
HP:0000119	Abnormality of the genitourinary system	6337	SCNN1A	ORPHA:526
HP:0000119	Abnormality of the genitourinary system	8481	OFD1	ORPHA:2750
HP:0000119	Abnormality of the genitourinary system	81494	CFHR5	OMIM:614809
HP:0000119	Abnormality of the genitourinary system	3735	KARS1	OMIM:619147
HP:0000119	Abnormality of the genitourinary system	1235	CCR6	ORPHA:220393
HP:0000119	Abnormality of the genitourinary system	1490	CCN2	ORPHA:220393
HP:0000119	Abnormality of the genitourinary system	3663	IRF5	ORPHA:220393
HP:0000119	Abnormality of the genitourinary system	857	CAV1	ORPHA:220393
HP:0000119	Abnormality of the genitourinary system	4627	MYH9	ORPHA:182050
HP:0000119	Abnormality of the genitourinary system	9935	MAFB	OMIM:166300
HP:0000119	Abnormality of the genitourinary system	3145	HMBS	ORPHA:79276
HP:0000119	Abnormality of the genitourinary system	5052	PRDX1	OMIM:277400
HP:0000119	Abnormality of the genitourinary system	2137	EXTL3	ORPHA:508533
HP:0000119	Abnormality of the genitourinary system	6309	SC5D	ORPHA:46059
HP:0000119	Abnormality of the genitourinary system	6309	SC5D	OMIM:607330
HP:0000119	Abnormality of the genitourinary system	10054	UBA2	OMIM:619959
HP:0000119	Abnormality of the genitourinary system	6650	CAPN15	OMIM:619318
HP:0000119	Abnormality of the genitourinary system	10274	STAG1	ORPHA:502434
HP:0000119	Abnormality of the genitourinary system	1736	DKC1	OMIM:305000
HP:0000119	Abnormality of the genitourinary system	27125	AFF4	ORPHA:444077
HP:0000119	Abnormality of the genitourinary system	27125	AFF4	OMIM:616368
HP:0000119	Abnormality of the genitourinary system	29998	BICRA	OMIM:619325
HP:0000119	Abnormality of the genitourinary system	6651	SON	OMIM:617140
HP:0000119	Abnormality of the genitourinary system	6651	SON	ORPHA:500150
HP:0000119	Abnormality of the genitourinary system	65993	MRPS34	OMIM:617664
HP:0000119	Abnormality of the genitourinary system	83479	DDX59	OMIM:174300
HP:0000119	Abnormality of the genitourinary system	9723	SEMA3E	ORPHA:138
HP:0000119	Abnormality of the genitourinary system	7547	ZIC3	OMIM:306955
HP:0000119	Abnormality of the genitourinary system	10584	COLEC10	OMIM:248340
HP:0000119	Abnormality of the genitourinary system	113189	CHST14	ORPHA:2953
HP:0000119	Abnormality of the genitourinary system	29940	DSE	ORPHA:2953
HP:0000119	Abnormality of the genitourinary system	6597	SMARCA4	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6598	SMARCB1	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6659	SOX4	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	8289	ARID1A	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	5977	DPF2	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6601	SMARCC2	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6602	SMARCD1	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	196528	ARID2	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6605	SMARCE1	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	6664	SOX11	ORPHA:1465
HP:0000119	Abnormality of the genitourinary system	1147	CHUK	OMIM:613630
HP:0000119	Abnormality of the genitourinary system	157570	ESCO2	ORPHA:2319
HP:0000119	Abnormality of the genitourinary system	157570	ESCO2	OMIM:268300
HP:0000119	Abnormality of the genitourinary system	157570	ESCO2	OMIM:216100
HP:0000119	Abnormality of the genitourinary system	64093	SMOC1	ORPHA:1106
HP:0000119	Abnormality of the genitourinary system	7319	UBE2A	OMIM:300860
HP:0000119	Abnormality of the genitourinary system	10524	KAT5	OMIM:619103
HP:0000119	Abnormality of the genitourinary system	7403	KDM6A	OMIM:300867
HP:0000119	Abnormality of the genitourinary system	6885	MAP3K7	OMIM:157800
HP:0000119	Abnormality of the genitourinary system	8241	RBM10	OMIM:311900
HP:0000119	Abnormality of the genitourinary system	8241	RBM10	ORPHA:2886
HP:0000119	Abnormality of the genitourinary system	3192	HNRNPU	ORPHA:238769
HP:0000119	Abnormality of the genitourinary system	64840	PORCN	OMIM:305600
HP:0000119	Abnormality of the genitourinary system	64840	PORCN	ORPHA:2092
HP:0000119	Abnormality of the genitourinary system	5447	POR	OMIM:201750
HP:0000119	Abnormality of the genitourinary system	6135	RPL11	OMIM:612562
HP:0000119	Abnormality of the genitourinary system	6135	RPL11	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	10283	CWC27	OMIM:250410
HP:0000119	Abnormality of the genitourinary system	10283	CWC27	ORPHA:166035
HP:0000119	Abnormality of the genitourinary system	3845	KRAS	OMIM:163200
HP:0000119	Abnormality of the genitourinary system	4893	NRAS	OMIM:163200
HP:0000119	Abnormality of the genitourinary system	2887	GRB10	ORPHA:96182
HP:0000119	Abnormality of the genitourinary system	79228	THOC6	ORPHA:363444
HP:0000119	Abnormality of the genitourinary system	79228	THOC6	OMIM:613680
HP:0000119	Abnormality of the genitourinary system	78989	COLEC11	OMIM:265050
HP:0000119	Abnormality of the genitourinary system	3187	HNRNPH1	OMIM:620083
HP:0000119	Abnormality of the genitourinary system	6748	SSR4	ORPHA:370927
HP:0000119	Abnormality of the genitourinary system	9319	TRIP13	OMIM:617598
HP:0000119	Abnormality of the genitourinary system	9939	RBM8A	ORPHA:3320
HP:0000119	Abnormality of the genitourinary system	9939	RBM8A	OMIM:274000
HP:0000119	Abnormality of the genitourinary system	3110	MNX1	OMIM:176450
HP:0000119	Abnormality of the genitourinary system	10225	CD96	ORPHA:1308
HP:0000119	Abnormality of the genitourinary system	6138	RPL15	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6229	RPS24	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6125	RPL5	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6204	RPS10	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6224	RPS20	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6165	RPL35A	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	2623	GATA1	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6232	RPS27	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	11224	RPL35	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6160	RPL31	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6218	RPS17	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6201	RPS7	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6155	RPL27	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6154	RPL26	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6210	RPS15A	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	90121	TSR2	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6141	RPL18	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6235	RPS29	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6234	RPS28	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	51816	ADA2	ORPHA:124
HP:0000119	Abnormality of the genitourinary system	6736	SRY	ORPHA:1772
HP:0000119	Abnormality of the genitourinary system	1642	DDB1	OMIM:619426
HP:0000119	Abnormality of the genitourinary system	157657	CFAP418	OMIM:617406
HP:0000119	Abnormality of the genitourinary system	26123	TCTN3	OMIM:614815
HP:0000119	Abnormality of the genitourinary system	80000	GREB1L	OMIM:617805
HP:0000119	Abnormality of the genitourinary system	168667	BMPER	OMIM:608022
HP:0000119	Abnormality of the genitourinary system	1123	CHN1	ORPHA:233
HP:0000119	Abnormality of the genitourinary system	6611	SMS	ORPHA:3063
HP:0000119	Abnormality of the genitourinary system	6628	SNRPB	OMIM:117650
HP:0000119	Abnormality of the genitourinary system	83700	JAM3	OMIM:613730
HP:0000119	Abnormality of the genitourinary system	54361	WNT4	ORPHA:3109
HP:0000119	Abnormality of the genitourinary system	9508	ADAMTS3	ORPHA:2136
HP:0000119	Abnormality of the genitourinary system	147372	CCBE1	ORPHA:2136
HP:0000119	Abnormality of the genitourinary system	147372	CCBE1	OMIM:235510
HP:0000119	Abnormality of the genitourinary system	10992	SF3B2	OMIM:164210
HP:0000119	Abnormality of the genitourinary system	5932	RBBP8	OMIM:606744
HP:0000119	Abnormality of the genitourinary system	8239	USP9X	OMIM:300919
HP:0000119	Abnormality of the genitourinary system	23384	SPECC1L	ORPHA:1519
HP:0000119	Abnormality of the genitourinary system	6231	RPS26	OMIM:613309
HP:0000119	Abnormality of the genitourinary system	1763	DNA2	OMIM:615807
HP:0000119	Abnormality of the genitourinary system	3239	HOXD13	ORPHA:887
HP:0000119	Abnormality of the genitourinary system	54101	RIPK4	OMIM:263650
HP:0000119	Abnormality of the genitourinary system	90417	KNSTRN	OMIM:613328
HP:0000119	Abnormality of the genitourinary system	5293	PIK3CD	OMIM:613328
HP:0000119	Abnormality of the genitourinary system	5290	PIK3CA	OMIM:612918
HP:0000119	Abnormality of the genitourinary system	22827	PUF60	ORPHA:508498
HP:0000119	Abnormality of the genitourinary system	22827	PUF60	OMIM:615583
HP:0000119	Abnormality of the genitourinary system	5076	PAX2	ORPHA:97362
HP:0000119	Abnormality of the genitourinary system	5076	PAX2	ORPHA:1475
HP:0000119	Abnormality of the genitourinary system	5076	PAX2	OMIM:616002
HP:0000119	Abnormality of the genitourinary system	5076	PAX2	OMIM:120330
HP:0000119	Abnormality of the genitourinary system	5087	PBX1	ORPHA:97362
HP:0000119	Abnormality of the genitourinary system	5087	PBX1	OMIM:617641
HP:0000119	Abnormality of the genitourinary system	341640	FREM2	ORPHA:2052
HP:0000119	Abnormality of the genitourinary system	341640	FREM2	OMIM:617666
HP:0000119	Abnormality of the genitourinary system	80144	FRAS1	ORPHA:2052
HP:0000119	Abnormality of the genitourinary system	80144	FRAS1	OMIM:219000
HP:0000119	Abnormality of the genitourinary system	23426	GRIP1	ORPHA:2052
HP:0000119	Abnormality of the genitourinary system	54892	NCAPG2	OMIM:618460
HP:0000119	Abnormality of the genitourinary system	11020	IFT27	OMIM:615996
HP:0000119	Abnormality of the genitourinary system	1161	ERCC8	ORPHA:90324
HP:0000119	Abnormality of the genitourinary system	2074	ERCC6	ORPHA:90324
HP:0000119	Abnormality of the genitourinary system	100151683	RNU4ATAC	OMIM:210710
HP:0000119	Abnormality of the genitourinary system	4774	NFIA	OMIM:613735
HP:0000119	Abnormality of the genitourinary system	57167	SALL4	OMIM:607323
HP:0000119	Abnormality of the genitourinary system	4838	NODAL	OMIM:270100
HP:0000119	Abnormality of the genitourinary system	64220	STRA6	OMIM:601186
HP:0000119	Abnormality of the genitourinary system	64220	STRA6	ORPHA:2470
HP:0000119	Abnormality of the genitourinary system	6299	SALL1	OMIM:107480
HP:0000119	Abnormality of the genitourinary system	6299	SALL1	ORPHA:857
HP:0000119	Abnormality of the genitourinary system	55112	DYNC2I1	ORPHA:93271
HP:0000119	Abnormality of the genitourinary system	57560	IFT80	ORPHA:93271
HP:0000119	Abnormality of the genitourinary system	57539	WDR35	ORPHA:93271
HP:0000119	Abnormality of the genitourinary system	57539	WDR35	OMIM:614091
HP:0000119	Abnormality of the genitourinary system	79659	DYNC2H1	ORPHA:93271
HP:0000119	Abnormality of the genitourinary system	89891	DYNC2I2	ORPHA:93271
HP:0000119	Abnormality of the genitourinary system	23498	HAAO	OMIM:617660
HP:0000119	Abnormality of the genitourinary system	55159	RFWD3	OMIM:617784
HP:0000119	Abnormality of the genitourinary system	8882	ZPR1	OMIM:619321
HP:0000119	Abnormality of the genitourinary system	3313	HSPA9	OMIM:616854
HP:0000119	Abnormality of the genitourinary system	55215	FANCI	OMIM:609053
HP:0000119	Abnormality of the genitourinary system	23291	FBXW11	OMIM:618914
HP:0000119	Abnormality of the genitourinary system	6092	ROBO2	OMIM:610878
HP:0000119	Abnormality of the genitourinary system	6926	TBX3	ORPHA:3138
HP:0000119	Abnormality of the genitourinary system	2188	FANCF	OMIM:603467
HP:0000119	Abnormality of the genitourinary system	84987	COX14	OMIM:619053
HP:0000119	Abnormality of the genitourinary system	57492	ARID1B	OMIM:135900
HP:0000119	Abnormality of the genitourinary system	3899	AFF3	OMIM:619297
HP:0000119	Abnormality of the genitourinary system	54496	PRMT7	OMIM:617157
HP:0000119	Abnormality of the genitourinary system	54496	PRMT7	ORPHA:464288
HP:0000119	Abnormality of the genitourinary system	6928	HNF1B	OMIM:137920
HP:0000119	Abnormality of the genitourinary system	54567	DLL4	OMIM:616589
HP:0000119	Abnormality of the genitourinary system	1312	COMT	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	221037	JMJD1C	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	2812	GP1BB	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	6239	RREB1	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	6899	TBX1	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	7290	HIRA	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	9632	SEC24C	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	7353	UFD1	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	421	ARVCF	ORPHA:567
HP:0000119	Abnormality of the genitourinary system	25778	DSTYK	OMIM:610805
HP:0000119	Abnormality of the genitourinary system	1717	DHCR7	OMIM:270400
HP:0000119	Abnormality of the genitourinary system	652	BMP4	OMIM:607932
HP:0000119	Abnormality of the genitourinary system	8091	HMGA2	ORPHA:94063
HP:0000119	Abnormality of the genitourinary system	23592	LEMD3	ORPHA:94063
HP:0000119	Abnormality of the genitourinary system	1822	ATN1	OMIM:618494
HP:0000119	Abnormality of the genitourinary system	5147	PDE6D	OMIM:615665
HP:0000119	Abnormality of the genitourinary system	55636	CHD7	OMIM:214800
HP:0000119	Abnormality of the genitourinary system	79633	FAT4	OMIM:615546
HP:0000119	Abnormality of the genitourinary system	79633	FAT4	ORPHA:314679
HP:0000119	Abnormality of the genitourinary system	4582	MUC1	OMIM:174000
HP:0000119	Abnormality of the genitourinary system	8642	DCHS1	OMIM:601390
HP:0000119	Abnormality of the genitourinary system	8642	DCHS1	ORPHA:314679
HP:0000119	Abnormality of the genitourinary system	9096	TBX18	OMIM:143400
HP:0000119	Abnormality of the genitourinary system	2737	GLI3	OMIM:146510
HP:0000119	Abnormality of the genitourinary system	5972	REN	OMIM:613092
HP:0000119	Abnormality of the genitourinary system	8260	NAA10	OMIM:309800
HP:0000119	Abnormality of the genitourinary system	54880	BCOR	OMIM:309800
HP:0000119	Abnormality of the genitourinary system	145173	B3GLCT	OMIM:261540
HP:0000119	Abnormality of the genitourinary system	6804	STX1A	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	7461	CLIP2	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	84277	DNAJC30	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	8468	FKBP6	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	5982	RFC2	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	2969	GTF2I	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	3984	LIMK1	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	9569	GTF2IRD1	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	155382	VPS37D	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	155368	METTL27	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	114049	BUD23	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	7458	EIF4H	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	84163	GTF2IRD2	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	9275	BCL7B	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	26608	TBL2	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	653361	NCF1	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	135886	TMEM270	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	51085	MLXIPL	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	51085	MLXIPL	OMIM:194050
HP:0000119	Abnormality of the genitourinary system	9031	BAZ1B	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	2006	ELN	ORPHA:904
HP:0000119	Abnormality of the genitourinary system	2006	ELN	OMIM:194050
HP:0000119	Abnormality of the genitourinary system	8364	H4C3	OMIM:619758
HP:0000119	Abnormality of the genitourinary system	55165	CEP55	OMIM:236500
HP:0000119	Abnormality of the genitourinary system	10907	TXNL4A	OMIM:608572
HP:0000119	Abnormality of the genitourinary system	8204	NRIP1	OMIM:618270
HP:0000119	Abnormality of the genitourinary system	284252	KCTD1	OMIM:181270
HP:0000119	Abnormality of the genitourinary system	374879	ZNF699	OMIM:619488
HP:0000119	Abnormality of the genitourinary system	9928	KIF14	OMIM:616258
HP:0000119	Abnormality of the genitourinary system	9928	KIF14	OMIM:617914
HP:0000119	Abnormality of the genitourinary system	51473	DCDC2	ORPHA:84081
HP:0000119	Abnormality of the genitourinary system	91147	TMEM67	ORPHA:84081
HP:0000119	Abnormality of the genitourinary system	182	JAG1	OMIM:118450
HP:0000119	Abnormality of the genitourinary system	2263	FGFR2	ORPHA:2363
HP:0000119	Abnormality of the genitourinary system	2261	FGFR3	ORPHA:2363
HP:0000119	Abnormality of the genitourinary system	2255	FGF10	ORPHA:2363
HP:0000119	Abnormality of the genitourinary system	51339	DACT1	ORPHA:857
HP:0000119	Abnormality of the genitourinary system	84919	PPP1R15B	OMIM:616817
HP:0000119	Abnormality of the genitourinary system	63895	PIEZO2	OMIM:248700
HP:0000119	Abnormality of the genitourinary system	10084	PQBP1	OMIM:309500
HP:0000119	Abnormality of the genitourinary system	5915	RARB	ORPHA:2470
HP:0000119	Abnormality of the genitourinary system	55120	FANCL	OMIM:614083
HP:0000119	Abnormality of the genitourinary system	153241	CEP120	OMIM:616300
HP:0000119	Abnormality of the genitourinary system	7518	XRCC4	OMIM:616541
HP:0000119	Abnormality of the genitourinary system	4193	MDM2	OMIM:618681
HP:0000119	Abnormality of the genitourinary system	10463	SLC30A9	OMIM:617595
HP:0000119	Abnormality of the genitourinary system	51360	MBTPS2	ORPHA:85284
HP:0000119	Abnormality of the genitourinary system	546	ATRX	OMIM:309580
HP:0000119	Abnormality of the genitourinary system	5885	RAD21	OMIM:611376
HP:0000119	Abnormality of the genitourinary system	25836	NIPBL	OMIM:122470
HP:0000119	Abnormality of the genitourinary system	55005	RMND1	OMIM:614922
HP:0000119	Abnormality of the genitourinary system	5557	PRIM1	OMIM:620005
HP:0000119	Abnormality of the genitourinary system	4853	NOTCH2	OMIM:610205
HP:0000119	Abnormality of the genitourinary system	84100	ARL6	OMIM:600151
HP:0000119	Abnormality of the genitourinary system	6223	RPS19	OMIM:105650
HP:0000119	Abnormality of the genitourinary system	8295	TRRAP	OMIM:618454
HP:0000119	Abnormality of the genitourinary system	9652	SKIC3	ORPHA:84064
HP:0000119	Abnormality of the genitourinary system	6499	SKIC2	ORPHA:84064
HP:0000119	Abnormality of the genitourinary system	57728	WDR19	OMIM:614376
HP:0000119	Abnormality of the genitourinary system	57728	WDR19	OMIM:614377
HP:0000119	Abnormality of the genitourinary system	4654	MYOD1	OMIM:618975
HP:0000119	Abnormality of the genitourinary system	27152	INTU	OMIM:617926
HP:0000119	Abnormality of the genitourinary system	3762	KCNJ5	ORPHA:37553
HP:0000119	Abnormality of the genitourinary system	3759	KCNJ2	ORPHA:37553
HP:0000119	Abnormality of the genitourinary system	4038	LRP4	OMIM:212780
HP:0000119	Abnormality of the genitourinary system	261734	NPHP4	OMIM:606996
HP:0000119	Abnormality of the genitourinary system	261734	NPHP4	OMIM:606966
HP:0000119	Abnormality of the genitourinary system	261734	NPHP4	ORPHA:3156
HP:0000119	Abnormality of the genitourinary system	95681	CEP41	OMIM:614464
HP:0000119	Abnormality of the genitourinary system	63929	XPNPEP3	OMIM:613159
HP:0000119	Abnormality of the genitourinary system	22897	CEP164	OMIM:614845
HP:0000119	Abnormality of the genitourinary system	22897	CEP164	ORPHA:3156
HP:0000119	Abnormality of the genitourinary system	84662	GLIS2	OMIM:611498
HP:0000119	Abnormality of the genitourinary system	26146	TRAF3IP1	OMIM:616629
HP:0000119	Abnormality of the genitourinary system	26146	TRAF3IP1	ORPHA:3156
HP:0000119	Abnormality of the genitourinary system	54806	AHI1	OMIM:608629
HP:0000119	Abnormality of the genitourinary system	9321	TRIP11	OMIM:184260
HP:0000119	Abnormality of the genitourinary system	112752	IFT43	OMIM:614099
HP:0000119	Abnormality of the genitourinary system	51134	CEP83	OMIM:615862
HP:0000119	Abnormality of the genitourinary system	284086	NEK8	OMIM:613824
HP:0000119	Abnormality of the genitourinary system	9657	IQCB1	ORPHA:3156
HP:0000119	Abnormality of the genitourinary system	9657	IQCB1	OMIM:609254
HP:0000119	Abnormality of the genitourinary system	27130	INVS	ORPHA:3156
HP:0000119	Abnormality of the genitourinary system	27130	INVS	OMIM:602088
HP:0000119	Abnormality of the genitourinary system	22909	FAN1	OMIM:614817
HP:0000119	Abnormality of the genitourinary system	56945	MRPS22	OMIM:611719
HP:0000119	Abnormality of the genitourinary system	5373	PMM2	ORPHA:79318
HP:0000119	Abnormality of the genitourinary system	4536	MT-ND2	ORPHA:255210
HP:0000119	Abnormality of the genitourinary system	4537	MT-ND3	ORPHA:255210
HP:0000119	Abnormality of the genitourinary system	4577	MT-TV	ORPHA:255210
HP:0000119	Abnormality of the genitourinary system	4508	MT-ATP6	ORPHA:255210
HP:0000119	Abnormality of the genitourinary system	56606	SLC2A9	ORPHA:94088
HP:0000119	Abnormality of the genitourinary system	116085	SLC22A12	ORPHA:94088
HP:0000119	Abnormality of the genitourinary system	25915	NDUFAF3	ORPHA:70474
HP:0000119	Abnormality of the genitourinary system	4714	NDUFB8	ORPHA:70474
HP:0000119	Abnormality of the genitourinary system	4720	NDUFS2	ORPHA:70474
HP:0000119	Abnormality of the genitourinary system	9997	SCO2	ORPHA:70474
HP:0000119	Abnormality of the genitourinary system	25970	SH2B1	ORPHA:261222
HP:0000119	Abnormality of the genitourinary system	2132	EXT2	OMIM:616682
HP:0000119	Abnormality of the genitourinary system	3162	HMOX1	OMIM:614034
HP:0000119	Abnormality of the genitourinary system	25959	KANK2	OMIM:617783
HP:0000119	Abnormality of the genitourinary system	6595	SMARCA2	ORPHA:2728
HP:0000119	Abnormality of the genitourinary system	8526	DGKE	OMIM:615008
HP:0000119	Abnormality of the genitourinary system	79693	YRDC	OMIM:619609
HP:0000119	Abnormality of the genitourinary system	1777	DNASE2	OMIM:619858
HP:0000119	Abnormality of the genitourinary system	6773	STAT2	OMIM:618886
HP:0000119	Abnormality of the genitourinary system	1801	DPH1	OMIM:616901
HP:0000119	Abnormality of the genitourinary system	84823	LMNB2	ORPHA:79087
HP:0000119	Abnormality of the genitourinary system	84823	LMNB2	OMIM:608709
HP:0000119	Abnormality of the genitourinary system	83480	PUS3	ORPHA:488627
HP:0000119	Abnormality of the genitourinary system	4036	LRP2	ORPHA:2143
HP:0000119	Abnormality of the genitourinary system	4036	LRP2	OMIM:222448
HP:0000119	Abnormality of the genitourinary system	54	ACP5	ORPHA:1855
HP:0000119	Abnormality of the genitourinary system	4069	LYZ	OMIM:105200
HP:0000119	Abnormality of the genitourinary system	2243	FGA	OMIM:105200
HP:0000119	Abnormality of the genitourinary system	335	APOA1	OMIM:105200
HP:0000119	Abnormality of the genitourinary system	567	B2M	OMIM:105200
HP:0000119	Abnormality of the genitourinary system	2321	FLT1	ORPHA:275555
HP:0000119	Abnormality of the genitourinary system	219736	STOX1	ORPHA:275555
HP:0000119	Abnormality of the genitourinary system	10699	CORIN	ORPHA:275555
HP:0000119	Abnormality of the genitourinary system	4094	MAF	ORPHA:1272
HP:0000119	Abnormality of the genitourinary system	3913	LAMB2	OMIM:614199
HP:0000119	Abnormality of the genitourinary system	3913	LAMB2	OMIM:609049
HP:0000119	Abnormality of the genitourinary system	6288	SAA1	ORPHA:85445
HP:0000119	Abnormality of the genitourinary system	10253	SPRY2	OMIM:616818
HP:0000119	Abnormality of the genitourinary system	4846	NOS3	OMIM:189800
HP:0000119	Abnormality of the genitourinary system	2303	FOXC2	ORPHA:33001
HP:0000119	Abnormality of the genitourinary system	5836	PYGL	ORPHA:369
HP:0000119	Abnormality of the genitourinary system	2629	GBA1	ORPHA:77261
HP:0000119	Abnormality of the genitourinary system	2629	GBA1	ORPHA:77259
HP:0000119	Abnormality of the genitourinary system	7535	ZAP70	OMIM:617006
HP:0000119	Abnormality of the genitourinary system	57107	PDSS2	OMIM:614652
HP:0000119	Abnormality of the genitourinary system	1288	COL4A6	ORPHA:1018
HP:0000119	Abnormality of the genitourinary system	4179	CD46	OMIM:612922
HP:0000119	Abnormality of the genitourinary system	4179	CD46	ORPHA:244242
HP:0000119	Abnormality of the genitourinary system	629	CFB	OMIM:612924
HP:0000119	Abnormality of the genitourinary system	7056	THBD	OMIM:612926
HP:0000119	Abnormality of the genitourinary system	9342	SNAP29	ORPHA:66631
HP:0000119	Abnormality of the genitourinary system	11093	ADAMTS13	OMIM:274150
HP:0000119	Abnormality of the genitourinary system	9663	LPIN2	ORPHA:77297
HP:0000119	Abnormality of the genitourinary system	3075	CFH	ORPHA:244242
HP:0000119	Abnormality of the genitourinary system	101101692	HELLPAR	ORPHA:244242
HP:0000119	Abnormality of the genitourinary system	55898	UNC45A	OMIM:619377
HP:0000119	Abnormality of the genitourinary system	8516	ITGA8	OMIM:191830
HP:0000119	Abnormality of the genitourinary system	9051	PSTPIP1	ORPHA:69126
HP:0000119	Abnormality of the genitourinary system	54938	SARS2	OMIM:613845
HP:0000119	Abnormality of the genitourinary system	11277	TREX1	ORPHA:247691
HP:0000119	Abnormality of the genitourinary system	9722	NOS1AP	OMIM:619155
HP:0000119	Abnormality of the genitourinary system	5339	PLEC	ORPHA:158684
HP:0000119	Abnormality of the genitourinary system	3691	ITGB4	ORPHA:158684
HP:0000119	Abnormality of the genitourinary system	7428	VHL	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	7428	VHL	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	1743	DLST	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	4191	MDH2	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	5979	RET	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	5979	RET	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	6389	SDHA	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	23095	KIF1B	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	8402	SLC25A11	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	54949	SDHAF2	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	55654	TMEM127	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	4763	NF1	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	6391	SDHC	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	6392	SDHD	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	6392	SDHD	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	6390	SDHB	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	6390	SDHB	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	4149	MAX	ORPHA:29072
HP:0000119	Abnormality of the genitourinary system	1788	DNMT3A	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	2034	EPAS1	ORPHA:276621
HP:0000119	Abnormality of the genitourinary system	55644	OSGEP	OMIM:617729
HP:0000119	Abnormality of the genitourinary system	7225	TRPC6	OMIM:603965
HP:0000119	Abnormality of the genitourinary system	7225	TRPC6	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	4558	MT-TF	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4572	MT-TQ	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4513	MT-CO2	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4578	MT-TW	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4540	MT-ND5	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4541	MT-ND6	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4535	MT-ND1	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4538	MT-ND4	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4575	MT-TS2	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	4564	MT-TH	ORPHA:550
HP:0000119	Abnormality of the genitourinary system	112858	TP53RK	OMIM:617730
HP:0000119	Abnormality of the genitourinary system	8879	SGPL1	OMIM:617575
HP:0000119	Abnormality of the genitourinary system	8270	LAGE3	OMIM:301006
HP:0000119	Abnormality of the genitourinary system	29927	SEC61A1	OMIM:617056
HP:0000119	Abnormality of the genitourinary system	51002	TPRKB	OMIM:617731
HP:0000119	Abnormality of the genitourinary system	10785	WDR4	OMIM:618347
HP:0000119	Abnormality of the genitourinary system	57122	NUP107	OMIM:618348
HP:0000119	Abnormality of the genitourinary system	57122	NUP107	OMIM:616730
HP:0000119	Abnormality of the genitourinary system	57122	NUP107	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	55746	NUP133	OMIM:618349
HP:0000119	Abnormality of the genitourinary system	55746	NUP133	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	55746	NUP133	OMIM:618177
HP:0000119	Abnormality of the genitourinary system	81	ACTN4	OMIM:603278
HP:0000119	Abnormality of the genitourinary system	81	ACTN4	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	55243	KIRREL1	OMIM:619201
HP:0000119	Abnormality of the genitourinary system	10651	MTX2	OMIM:619127
HP:0000119	Abnormality of the genitourinary system	23165	NUP205	OMIM:616893
HP:0000119	Abnormality of the genitourinary system	23165	NUP205	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	9688	NUP93	OMIM:616892
HP:0000119	Abnormality of the genitourinary system	9688	NUP93	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	5800	PTPRO	OMIM:614196
HP:0000119	Abnormality of the genitourinary system	5800	PTPRO	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	65082	VPS33A	OMIM:617303
HP:0000119	Abnormality of the genitourinary system	84520	GON7	OMIM:619603
HP:0000119	Abnormality of the genitourinary system	4643	MYO1E	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	4643	MYO1E	OMIM:614131
HP:0000119	Abnormality of the genitourinary system	64423	INF2	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	64423	INF2	OMIM:613237
HP:0000119	Abnormality of the genitourinary system	64423	INF2	OMIM:614455
HP:0000119	Abnormality of the genitourinary system	26130	GAPVD1	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	51479	ANKFY1	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	54443	ANLN	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	54443	ANLN	OMIM:616032
HP:0000119	Abnormality of the genitourinary system	2013	EMP2	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	79023	NUP37	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	51196	PLCE1	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	51196	PLCE1	OMIM:610725
HP:0000119	Abnormality of the genitourinary system	79902	NUP85	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	79902	NUP85	OMIM:618176
HP:0000119	Abnormality of the genitourinary system	396	ARHGDIA	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	79934	COQ8B	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	79934	COQ8B	OMIM:615573
HP:0000119	Abnormality of the genitourinary system	23279	NUP160	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	23279	NUP160	OMIM:618178
HP:0000119	Abnormality of the genitourinary system	9863	MAGI2	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	8542	APOL1	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	8542	APOL1	OMIM:612551
HP:0000119	Abnormality of the genitourinary system	54885	TBC1D8B	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	54885	TBC1D8B	OMIM:301028
HP:0000119	Abnormality of the genitourinary system	7827	NPHS2	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	7827	NPHS2	OMIM:600995
HP:0000119	Abnormality of the genitourinary system	83478	ARHGAP24	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	23500	DAAM2	ORPHA:656
HP:0000119	Abnormality of the genitourinary system	23500	DAAM2	OMIM:619263
HP:0000119	Abnormality of the genitourinary system	27235	COQ2	OMIM:607426
HP:0000119	Abnormality of the genitourinary system	2538	G6PC1	OMIM:232200
HP:0000119	Abnormality of the genitourinary system	3911	LAMA5	OMIM:620049
HP:0000119	Abnormality of the genitourinary system	51004	COQ6	OMIM:614650
HP:0000119	Abnormality of the genitourinary system	79731	NARS2	OMIM:616239
HP:0000119	Abnormality of the genitourinary system	6559	SLC12A3	ORPHA:358
HP:0000119	Abnormality of the genitourinary system	8651	SOCS1	OMIM:619375
HP:0000119	Abnormality of the genitourinary system	975	CD81	OMIM:613496
HP:0000119	Abnormality of the genitourinary system	50943	FOXP3	OMIM:304790
HP:0000119	Abnormality of the genitourinary system	81603	TRIM8	OMIM:619428
HP:0000119	Abnormality of the genitourinary system	708	C1QBP	OMIM:617713
HP:0000119	Abnormality of the genitourinary system	79415	CYBC1	OMIM:618935
HP:0000119	Abnormality of the genitourinary system	5896	RAG1	ORPHA:39041
HP:0000119	Abnormality of the genitourinary system	5897	RAG2	ORPHA:39041
HP:0000119	Abnormality of the genitourinary system	3575	IL7R	ORPHA:39041
HP:0000119	Abnormality of the genitourinary system	3561	IL2RG	ORPHA:39041
HP:0000119	Abnormality of the genitourinary system	26503	SLC17A5	OMIM:269920
HP:0000119	Abnormality of the genitourinary system	9365	KL	OMIM:617994
HP:0000119	Abnormality of the genitourinary system	3710	ITPR3	OMIM:222100
HP:0000119	Abnormality of the genitourinary system	3569	IL6	OMIM:222100
HP:0000119	Abnormality of the genitourinary system	51422	PRKAG2	OMIM:261740
HP:0000119	Abnormality of the genitourinary system	11311	VPS45	OMIM:615285
HP:0000119	Abnormality of the genitourinary system	7707	ZNF148	OMIM:617260
HP:0000119	Abnormality of the genitourinary system	26173	INTS1	OMIM:618571
HP:0000119	Abnormality of the genitourinary system	2299	FOXI1	ORPHA:705
HP:0000119	Abnormality of the genitourinary system	5172	SLC26A4	ORPHA:705
HP:0000119	Abnormality of the genitourinary system	3090	HIC1	ORPHA:531
HP:0000119	Abnormality of the genitourinary system	219854	TMEM218	OMIM:619562
HP:0000119	Abnormality of the genitourinary system	169792	GLIS3	OMIM:610199
HP:0000119	Abnormality of the genitourinary system	4351	MPI	OMIM:602579
HP:0000119	Abnormality of the genitourinary system	51103	NDUFAF1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	91942	NDUFAF2	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	51300	TIMMDC1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4723	NDUFV1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	55572	FOXRED1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	284184	NDUFAF8	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4729	NDUFV2	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4694	NDUFA1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4726	NDUFS6	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4728	NDUFS8	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4722	NDUFS3	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	79133	NDUFAF5	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	126328	NDUFA11	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4709	NDUFB3	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	80224	NUBPL	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	29078	NDUFAF4	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	374291	NDUFS7	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4719	NDUFS1	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	4715	NDUFB9	ORPHA:2609
HP:0000119	Abnormality of the genitourinary system	10735	STAG2	ORPHA:220386
HP:0000119	Abnormality of the genitourinary system	10735	STAG2	ORPHA:93925
HP:0000119	Abnormality of the genitourinary system	10195	ALG3	ORPHA:79321
HP:0000119	Abnormality of the genitourinary system	23007	PLCH1	ORPHA:93925
HP:0000119	Abnormality of the genitourinary system	92335	STRADA	ORPHA:500533
HP:0000119	Abnormality of the genitourinary system	92335	STRADA	OMIM:611087
HP:0000119	Abnormality of the genitourinary system	51119	SBDS	OMIM:260400
HP:0000119	Abnormality of the genitourinary system	6729	SRP54	OMIM:260400
HP:0000119	Abnormality of the genitourinary system	6506	SLC1A2	OMIM:617105
HP:0000119	Abnormality of the genitourinary system	58528	RRAGD	OMIM:620152
HP:0000119	Abnormality of the genitourinary system	2530	FUT8	OMIM:618005
HP:0000119	Abnormality of the genitourinary system	5741	PTH	OMIM:146200
HP:0000119	Abnormality of the genitourinary system	57592	ZNF687	OMIM:616833
HP:0000119	Abnormality of the genitourinary system	55252	ASXL2	OMIM:617190
HP:0000119	Abnormality of the genitourinary system	50814	NSDHL	OMIM:308050
HP:0000119	Abnormality of the genitourinary system	57511	COG6	OMIM:614576
HP:0000119	Abnormality of the genitourinary system	51729	WBP11	OMIM:619227
HP:0000119	Abnormality of the genitourinary system	26057	ANKRD17	OMIM:619504
HP:0000119	Abnormality of the genitourinary system	10093	ARPC4	OMIM:620141
HP:0000119	Abnormality of the genitourinary system	93210	PGAP3	ORPHA:247262
HP:0000119	Abnormality of the genitourinary system	284098	PIGW	ORPHA:247262
HP:0000119	Abnormality of the genitourinary system	27315	PGAP2	ORPHA:247262
HP:0000119	Abnormality of the genitourinary system	79971	WLS	OMIM:619648
HP:0000119	Abnormality of the genitourinary system	2065	ERBB3	OMIM:607598
HP:0000119	Abnormality of the genitourinary system	10491	CRTAP	OMIM:610682
HP:0000119	Abnormality of the genitourinary system	5236	PGM1	OMIM:614921
HP:0000119	Abnormality of the genitourinary system	3773	KCNJ16	OMIM:619406
HP:0000119	Abnormality of the genitourinary system	7450	VWF	OMIM:193400
HP:0000119	Abnormality of the genitourinary system	7450	VWF	OMIM:613554
HP:0000119	Abnormality of the genitourinary system	7450	VWF	OMIM:277480
HP:0000119	Abnormality of the genitourinary system	5054	SERPINE1	ORPHA:465
HP:0000119	Abnormality of the genitourinary system	5054	SERPINE1	OMIM:613329
HP:0000119	Abnormality of the genitourinary system	89781	HPS4	OMIM:614073
HP:0000119	Abnormality of the genitourinary system	388552	BLOC1S3	OMIM:614077
HP:0000119	Abnormality of the genitourinary system	3998	LMAN1	ORPHA:35909
HP:0000119	Abnormality of the genitourinary system	90411	MCFD2	ORPHA:35909
HP:0000119	Abnormality of the genitourinary system	90411	MCFD2	OMIM:613625
HP:0000119	Abnormality of the genitourinary system	84062	DTNBP1	OMIM:614076
HP:0000119	Abnormality of the genitourinary system	5568	PRKACG	OMIM:616176
HP:0000119	Abnormality of the genitourinary system	10235	RASGRP2	OMIM:615888
HP:0000119	Abnormality of the genitourinary system	2165	F13B	ORPHA:331
HP:0000119	Abnormality of the genitourinary system	2162	F13A1	ORPHA:331
HP:0000119	Abnormality of the genitourinary system	63915	BLOC1S5	OMIM:619172
HP:0000119	Abnormality of the genitourinary system	2159	F10	OMIM:227600
HP:0000119	Abnormality of the genitourinary system	2159	F10	ORPHA:328
HP:0000119	Abnormality of the genitourinary system	51206	GP6	OMIM:614201
HP:0000119	Abnormality of the genitourinary system	2160	F11	ORPHA:329
HP:0000119	Abnormality of the genitourinary system	5328	PLAU	OMIM:601709
HP:0000119	Abnormality of the genitourinary system	342618	SLFN14	OMIM:616913
HP:0000119	Abnormality of the genitourinary system	1729	DIAPH1	OMIM:124900
HP:0000119	Abnormality of the genitourinary system	3295	HSD17B4	OMIM:233400
HP:0000119	Abnormality of the genitourinary system	3479	IGF1	ORPHA:73272
HP:0000119	Abnormality of the genitourinary system	27183	VPS4A	OMIM:619273
HP:0000119	Abnormality of the genitourinary system	83932	SPRTN	OMIM:616200
HP:0000119	Abnormality of the genitourinary system	7555	CNBP	OMIM:602668
HP:0000119	Abnormality of the genitourinary system	10059	DNM1L	ORPHA:98673
HP:0000119	Abnormality of the genitourinary system	4976	OPA1	ORPHA:98673
HP:0000119	Abnormality of the genitourinary system	55630	SLC39A4	OMIM:201100
HP:0000119	Abnormality of the genitourinary system	415	ARSL	OMIM:302950
HP:0000119	Abnormality of the genitourinary system	4609	MYC	ORPHA:543
HP:0000119	Abnormality of the genitourinary system	5340	PLG	ORPHA:722
HP:0000119	Abnormality of the genitourinary system	5295	PIK3R1	OMIM:269880
HP:0000119	Abnormality of the genitourinary system	2155	F7	ORPHA:327
HP:0000119	Abnormality of the genitourinary system	4437	MSH3	OMIM:617100
HP:0000119	Abnormality of the genitourinary system	6197	RPS6KA3	OMIM:303600
HP:0000119	Abnormality of the genitourinary system	54766	BTG4	OMIM:619009
HP:0000119	Abnormality of the genitourinary system	55109	AGGF1	ORPHA:90308
HP:0000119	Abnormality of the genitourinary system	23218	NBEAL2	ORPHA:721
HP:0000119	Abnormality of the genitourinary system	164045	HFM1	OMIM:615724
HP:0000119	Abnormality of the genitourinary system	3588	IL10RB	OMIM:612567
HP:0000119	Abnormality of the genitourinary system	3718	JAK3	ORPHA:35078
HP:0000119	Abnormality of the genitourinary system	158326	FREM1	OMIM:608980
HP:0000119	Abnormality of the genitourinary system	4519	MT-CYB	ORPHA:137675
HP:0000119	Abnormality of the genitourinary system	118429	ANTXR2	ORPHA:2176
HP:0000119	Abnormality of the genitourinary system	4313	MMP2	ORPHA:371428
HP:0000119	Abnormality of the genitourinary system	4323	MMP14	ORPHA:371428
HP:0000119	Abnormality of the genitourinary system	4487	MSX1	ORPHA:2228
HP:0000119	Abnormality of the genitourinary system	5518	PPP2R1A	ORPHA:457284
HP:0000119	Abnormality of the genitourinary system	254394	MCM9	OMIM:616185
HP:0000119	Abnormality of the genitourinary system	55154	MSTO1	OMIM:617675
HP:0000119	Abnormality of the genitourinary system	55154	MSTO1	ORPHA:502423
HP:0000119	Abnormality of the genitourinary system	2661	GDF9	OMIM:618014
HP:0000119	Abnormality of the genitourinary system	8565	YARS1	OMIM:619418
HP:0000119	Abnormality of the genitourinary system	93587	TRMT10A	OMIM:616033
HP:0000119	Abnormality of the genitourinary system	7421	VDR	ORPHA:93160
HP:0000119	Abnormality of the genitourinary system	776	CACNA1D	OMIM:615474
HP:0000119	Abnormality of the genitourinary system	776	CACNA1D	ORPHA:369929
HP:0000119	Abnormality of the genitourinary system	1119	CHKA	OMIM:620023
HP:0000119	Abnormality of the genitourinary system	3872	KRT17	ORPHA:841
HP:0000119	Abnormality of the genitourinary system	5333	PLCD1	ORPHA:2387
HP:0000119	Abnormality of the genitourinary system	6476	SI	OMIM:222900
HP:0000119	Abnormality of the genitourinary system	55367	PIDD1	OMIM:619827
HP:0000119	Abnormality of the genitourinary system	871	SERPINH1	OMIM:613848
HP:0000119	Abnormality of the genitourinary system	353238	PADI6	OMIM:617234
HP:0000119	Abnormality of the genitourinary system	3117	HLA-DQA1	OMIM:212750
HP:0000119	Abnormality of the genitourinary system	6720	SREBF1	OMIM:158310
HP:0000119	Abnormality of the genitourinary system	10413	YAP1	ORPHA:1473
HP:0000119	Abnormality of the genitourinary system	10413	YAP1	OMIM:120433
HP:0000119	Abnormality of the genitourinary system	5345	SERPINF2	ORPHA:79
HP:0000119	Abnormality of the genitourinary system	6786	STIM1	OMIM:185070
HP:0000119	Abnormality of the genitourinary system	3673	ITGA2	ORPHA:853
HP:0000119	Abnormality of the genitourinary system	135228	CD109	ORPHA:853
HP:0000119	Abnormality of the genitourinary system	2658	GDF2	ORPHA:774
HP:0000119	Abnormality of the genitourinary system	94	ACVRL1	ORPHA:774
HP:0000119	Abnormality of the genitourinary system	2022	ENG	ORPHA:774
HP:0000119	Abnormality of the genitourinary system	712	C1QA	OMIM:613652
HP:0000119	Abnormality of the genitourinary system	5238	PGM3	ORPHA:443811
HP:0000119	Abnormality of the genitourinary system	5238	PGM3	OMIM:615816
HP:0000119	Abnormality of the genitourinary system	5106	PCK2	OMIM:261650
HP:0000119	Abnormality of the genitourinary system	2982	GUCY1A1	OMIM:615750
HP:0000119	Abnormality of the genitourinary system	30061	SLC40A1	OMIM:606069
HP:0000119	Abnormality of the genitourinary system	9526	MPDU1	OMIM:609180
HP:0000119	Abnormality of the genitourinary system	9526	MPDU1	ORPHA:79323
HP:0000119	Abnormality of the genitourinary system	1741	DLG3	OMIM:300850
HP:0000119	Abnormality of the genitourinary system	54941	RNF125	OMIM:616260
HP:0000119	Abnormality of the genitourinary system	101929726	MYMX	ORPHA:1358
HP:0000119	Abnormality of the genitourinary system	3782	KCNN3	ORPHA:3473
HP:0000119	Abnormality of the genitourinary system	10262	SF3B4	OMIM:154400
HP:0000119	Abnormality of the genitourinary system	64374	SIL1	OMIM:248800
HP:0000119	Abnormality of the genitourinary system	4361	MRE11	ORPHA:251347
HP:0000119	Abnormality of the genitourinary system	23600	AMACR	OMIM:614307
HP:0000119	Abnormality of the genitourinary system	197	AHSG	ORPHA:2850
HP:0000119	Abnormality of the genitourinary system	3694	ITGB6	ORPHA:2850
HP:0000119	Abnormality of the genitourinary system	92667	MGME1	ORPHA:352447
HP:0000119	Abnormality of the genitourinary system	92667	MGME1	OMIM:615084
HP:0000119	Abnormality of the genitourinary system	51081	MRPS7	OMIM:617872
HP:0000119	Abnormality of the genitourinary system	9692	PRORP	OMIM:619737
HP:0000119	Abnormality of the genitourinary system	8192	CLPP	OMIM:614129
HP:0000119	Abnormality of the genitourinary system	3953	LEPR	OMIM:614963
HP:0000119	Abnormality of the genitourinary system	3953	LEPR	ORPHA:179494
HP:0000119	Abnormality of the genitourinary system	658	BMPR1B	OMIM:609441
HP:0000119	Abnormality of the genitourinary system	50964	SOST	OMIM:269500
HP:0000119	Abnormality of the genitourinary system	11077	HSF2BP	OMIM:619245
HP:0000119	Abnormality of the genitourinary system	26284	ERAL1	OMIM:617565
HP:0000119	Abnormality of the genitourinary system	55213	RCBTB1	OMIM:617175
HP:0000119	Abnormality of the genitourinary system	1730	DIAPH2	OMIM:300511
HP:0000119	Abnormality of the genitourinary system	57817	HAMP	OMIM:613313
HP:0000119	Abnormality of the genitourinary system	9060	PAPSS2	OMIM:612847
HP:0000119	Abnormality of the genitourinary system	1967	EIF2B1	OMIM:603896
HP:0000119	Abnormality of the genitourinary system	6907	TBL1X	OMIM:301033
HP:0000119	Abnormality of the genitourinary system	344018	FIGLA	OMIM:612310
HP:0000119	Abnormality of the genitourinary system	7086	TKT	ORPHA:488618
HP:0000119	Abnormality of the genitourinary system	135935	NOBOX	OMIM:611548
HP:0000119	Abnormality of the genitourinary system	9563	H6PD	OMIM:604931
HP:0000119	Abnormality of the genitourinary system	5618	PRLR	ORPHA:397685
HP:0000119	Abnormality of the genitourinary system	5618	PRLR	OMIM:615555
HP:0000119	Abnormality of the genitourinary system	3991	LIPE	ORPHA:435660
HP:0000119	Abnormality of the genitourinary system	5468	PPARG	ORPHA:79083
HP:0000119	Abnormality of the genitourinary system	5468	PPARG	ORPHA:528
HP:0000119	Abnormality of the genitourinary system	5468	PPARG	OMIM:604367
HP:0000119	Abnormality of the genitourinary system	208	AKT2	ORPHA:79085
HP:0000119	Abnormality of the genitourinary system	5346	PLIN1	OMIM:613877
HP:0000119	Abnormality of the genitourinary system	5346	PLIN1	ORPHA:280356
HP:0000119	Abnormality of the genitourinary system	5257	PHKB	ORPHA:79240
HP:0000119	Abnormality of the genitourinary system	284119	CAVIN1	ORPHA:528
HP:0000119	Abnormality of the genitourinary system	2353	FOS	ORPHA:528
HP:0000119	Abnormality of the genitourinary system	4439	MSH5	OMIM:617442
HP:0000119	Abnormality of the genitourinary system	5256	PHKA2	ORPHA:264580
HP:0000119	Abnormality of the genitourinary system	5261	PHKG2	ORPHA:264580
HP:0000119	Abnormality of the genitourinary system	63924	CIDEC	ORPHA:435651
HP:0000119	Abnormality of the genitourinary system	23395	LARS2	OMIM:615300
HP:0000119	Abnormality of the genitourinary system	668	FOXL2	ORPHA:572333
HP:0000119	Abnormality of the genitourinary system	9839	ZEB2	ORPHA:261537
HP:0000119	Abnormality of the genitourinary system	9839	ZEB2	ORPHA:261552
HP:0000119	Abnormality of the genitourinary system	197131	UBR1	OMIM:243800
HP:0000119	Abnormality of the genitourinary system	6948	TCN2	ORPHA:859
HP:0000119	Abnormality of the genitourinary system	226	ALDOA	ORPHA:57
HP:0000119	Abnormality of the genitourinary system	3949	LDLR	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	255738	PCSK9	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	26119	LDLRAP1	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	338	APOB	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	64240	ABCG5	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	64241	ABCG8	ORPHA:391665
HP:0000119	Abnormality of the genitourinary system	55249	YY1AP1	OMIM:602531
HP:0000119	Abnormality of the genitourinary system	6772	STAT1	ORPHA:391487
HP:0000119	Abnormality of the genitourinary system	10043	TOM1	ORPHA:391487
HP:0000119	Abnormality of the genitourinary system	5456	POU3F4	ORPHA:1435
HP:0000119	Abnormality of the genitourinary system	1374	CPT1A	ORPHA:156
HP:0000119	Abnormality of the genitourinary system	1374	CPT1A	OMIM:255120
HP:0000119	Abnormality of the genitourinary system	525	ATP6V1B1	OMIM:267300
HP:0000119	Abnormality of the genitourinary system	57551	TAOK1	OMIM:619575
HP:0000119	Abnormality of the genitourinary system	133686	NADK2	ORPHA:431361
HP:0000119	Abnormality of the genitourinary system	790	CAD	OMIM:616457
HP:0000119	Abnormality of the genitourinary system	100	ADA	OMIM:102700
HP:0000119	Abnormality of the genitourinary system	11222	MRPL3	OMIM:614582
HP:0000119	Abnormality of the genitourinary system	283209	PGM2L1	OMIM:620191
HP:0000119	Abnormality of the genitourinary system	51660	MPC1	OMIM:614741
HP:0000119	Abnormality of the genitourinary system	80308	FLAD1	OMIM:255100
HP:0000119	Abnormality of the genitourinary system	686	BTD	OMIM:253260
HP:0000119	Abnormality of the genitourinary system	686	BTD	ORPHA:79241
HP:0000119	Abnormality of the genitourinary system	60386	SLC25A19	ORPHA:99742
HP:0000119	Abnormality of the genitourinary system	79581	SLC52A2	OMIM:614707
HP:0000119	Abnormality of the genitourinary system	5091	PC	OMIM:266150
HP:0000119	Abnormality of the genitourinary system	760	CA2	ORPHA:2785
HP:0000119	Abnormality of the genitourinary system	249	ALPL	OMIM:241500
HP:0000119	Abnormality of the genitourinary system	444	ASPH	OMIM:601552
HP:0000119	Abnormality of the genitourinary system	4524	MTHFR	OMIM:236250
HP:0000119	Abnormality of the genitourinary system	4524	MTHFR	ORPHA:395
HP:0000119	Abnormality of the genitourinary system	3054	HCFC1	OMIM:309541
HP:0000119	Abnormality of the genitourinary system	875	CBS	OMIM:236200
HP:0000119	Abnormality of the genitourinary system	4548	MTR	OMIM:250940
HP:0000119	Abnormality of the genitourinary system	27249	MMADHC	OMIM:277410
HP:0000119	Abnormality of the genitourinary system	6448	SGSH	OMIM:252900
HP:0000119	Abnormality of the genitourinary system	4669	NAGLU	OMIM:252920
HP:0000119	Abnormality of the genitourinary system	2799	GNS	OMIM:252940
HP:0000119	Abnormality of the genitourinary system	11281	POU6F2	OMIM:601583
HP:0000119	Abnormality of the genitourinary system	11281	POU6F2	ORPHA:654
HP:0000119	Abnormality of the genitourinary system	716	C1S	OMIM:617174
HP:0000119	Abnormality of the genitourinary system	9158	FIBP	ORPHA:500095
HP:0000119	Abnormality of the genitourinary system	9158	FIBP	OMIM:617107
HP:0000119	Abnormality of the genitourinary system	5978	REST	OMIM:616806
HP:0000119	Abnormality of the genitourinary system	5978	REST	ORPHA:654
HP:0000119	Abnormality of the genitourinary system	10155	TRIM28	ORPHA:654
HP:0000119	Abnormality of the genitourinary system	4591	TRIM37	OMIM:253250
HP:0000119	Abnormality of the genitourinary system	23533	PIK3R5	ORPHA:64753
HP:0000119	Abnormality of the genitourinary system	23064	SETX	ORPHA:64753
HP:0000119	Abnormality of the genitourinary system	1201	CLN3	ORPHA:228346
HP:0000119	Abnormality of the genitourinary system	51308	REEP2	ORPHA:401849
HP:0000119	Abnormality of the genitourinary system	51308	REEP2	OMIM:615625
HP:0000119	Abnormality of the genitourinary system	2670	GFAP	ORPHA:363722
HP:0000119	Abnormality of the genitourinary system	547	KIF1A	OMIM:610357
HP:0000119	Abnormality of the genitourinary system	2395	FXN	ORPHA:95
HP:0000119	Abnormality of the genitourinary system	6310	ATXN1	OMIM:164400
HP:0000119	Abnormality of the genitourinary system	5376	PMP22	ORPHA:3115
HP:0000119	Abnormality of the genitourinary system	4359	MPZ	ORPHA:3115
HP:0000119	Abnormality of the genitourinary system	3178	HNRNPA1	ORPHA:52430
HP:0000119	Abnormality of the genitourinary system	3181	HNRNPA2B1	ORPHA:52430
HP:0000119	Abnormality of the genitourinary system	2147	F2	ORPHA:325
HP:0000119	Abnormality of the genitourinary system	1594	CYP27B1	OMIM:264700
HP:0000119	Abnormality of the genitourinary system	1594	CYP27B1	ORPHA:289157
HP:0000119	Abnormality of the genitourinary system	120227	CYP2R1	ORPHA:289157
HP:0000119	Abnormality of the genitourinary system	1716	DGUOK	OMIM:251880
HP:0000119	Abnormality of the genitourinary system	23479	ISCU	OMIM:255125
HP:0000119	Abnormality of the genitourinary system	90523	MLIP	OMIM:620138
HP:0000119	Abnormality of the genitourinary system	6443	SGCB	ORPHA:119
HP:0000119	Abnormality of the genitourinary system	3030	HADHA	OMIM:609015
HP:0000119	Abnormality of the genitourinary system	203859	ANO5	ORPHA:206549
HP:0000119	Abnormality of the genitourinary system	38	ACAT1	ORPHA:134
HP:0000119	Abnormality of the genitourinary system	5105	PCK1	OMIM:261680
HP:0000119	Abnormality of the genitourinary system	1537	CYC1	OMIM:615453
HP:0000119	Abnormality of the genitourinary system	5019	OXCT1	OMIM:245050
HP:0000119	Abnormality of the genitourinary system	128989	TANGO2	ORPHA:480864
HP:0000119	Abnormality of the genitourinary system	128989	TANGO2	OMIM:616878
HP:0000119	Abnormality of the genitourinary system	6566	SLC16A1	OMIM:616095
HP:0000119	Abnormality of the genitourinary system	3034	HAL	OMIM:235800
HP:0000119	Abnormality of the genitourinary system	3034	HAL	ORPHA:2157
HP:0000119	Abnormality of the genitourinary system	286053	NSMCE2	OMIM:617253
HP:0000119	Abnormality of the genitourinary system	57570	TRMT5	OMIM:616539
HP:0000119	Abnormality of the genitourinary system	2998	GYS2	ORPHA:2089
HP:0000119	Abnormality of the genitourinary system	387700	SLC16A12	OMIM:612018
HP:0000119	Abnormality of the genitourinary system	8792	TNFRSF11A	OMIM:602080
HP:0000119	Abnormality of the genitourinary system	8792	TNFRSF11A	OMIM:174810
HP:0000119	Abnormality of the genitourinary system	5352	PLOD2	OMIM:609220
HP:0000119	Abnormality of the genitourinary system	2731	GLDC	OMIM:605899
HP:0000119	Abnormality of the genitourinary system	275	AMT	OMIM:605899
HP:0000119	Abnormality of the genitourinary system	3712	IVD	OMIM:243500
HP:0000119	Abnormality of the genitourinary system	153201	SLC36A2	OMIM:242600
HP:0000119	Abnormality of the genitourinary system	153201	SLC36A2	ORPHA:42062
HP:0000119	Abnormality of the genitourinary system	153201	SLC36A2	OMIM:138500
HP:0000119	Abnormality of the genitourinary system	27247	NFU1	OMIM:605711
HP:0000119	Abnormality of the genitourinary system	348932	SLC6A18	ORPHA:42062
HP:0000119	Abnormality of the genitourinary system	54716	SLC6A20	ORPHA:42062
HP:0000119	Abnormality of the genitourinary system	340024	SLC6A19	ORPHA:42062
HP:0000119	Abnormality of the genitourinary system	34	ACADM	OMIM:201450
HP:0000119	Abnormality of the genitourinary system	5625	PRODH	OMIM:239500
HP:0000119	Abnormality of the genitourinary system	64087	MCCC2	OMIM:210210
HP:0000119	Abnormality of the genitourinary system	5095	PCCA	OMIM:606054
HP:0000119	Abnormality of the genitourinary system	5096	PCCB	OMIM:606054
HP:0000119	Abnormality of the genitourinary system	8074	FGF23	ORPHA:89937
HP:0000119	Abnormality of the genitourinary system	5745	PTH1R	OMIM:156400
HP:0000119	Abnormality of the genitourinary system	142680	SLC34A3	ORPHA:157215
HP:0000119	Abnormality of the genitourinary system	1758	DMP1	ORPHA:289176
HP:0000119	Abnormality of the genitourinary system	5167	ENPP1	ORPHA:289176
HP:0000119	Abnormality of the genitourinary system	5167	ENPP1	ORPHA:51608
HP:0000119	Abnormality of the genitourinary system	5167	ENPP1	OMIM:613312
HP:0000119	Abnormality of the genitourinary system	368	ABCC6	ORPHA:51608
HP:0000119	Abnormality of the genitourinary system	9368	NHERF1	OMIM:612287
HP:0000119	Abnormality of the genitourinary system	2778	GNAS	ORPHA:562
HP:0000119	Abnormality of the genitourinary system	6514	SLC2A2	OMIM:227810
HP:0000119	Abnormality of the genitourinary system	6514	SLC2A2	ORPHA:2088
HP:0000119	Abnormality of the genitourinary system	51181	DCXR	OMIM:260800
HP:0000119	Abnormality of the genitourinary system	112817	HOGA1	ORPHA:93600
HP:0000119	Abnormality of the genitourinary system	84133	ZNRF3	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	7157	TP53	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	5573	PRKAR1A	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	1499	CTNNB1	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	1029	CDKN2A	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	7015	TERT	ORPHA:1501
HP:0000119	Abnormality of the genitourinary system	5251	PHEX	ORPHA:89936
HP:0000119	Abnormality of the genitourinary system	3766	KCNJ10	OMIM:612780
HP:0000119	Abnormality of the genitourinary system	10157	AASS	ORPHA:2203
HP:0000119	Abnormality of the genitourinary system	10157	AASS	ORPHA:3124
HP:0000119	Abnormality of the genitourinary system	9581	PREPL	OMIM:616224
HP:0000119	Abnormality of the genitourinary system	9581	PREPL	ORPHA:163690
HP:0000119	Abnormality of the genitourinary system	9581	PREPL	ORPHA:163693
HP:0000119	Abnormality of the genitourinary system	5495	PPM1B	ORPHA:163693
HP:0000119	Abnormality of the genitourinary system	79823	CAMKMT	ORPHA:163693
HP:0000119	Abnormality of the genitourinary system	26873	OPLAH	OMIM:260005
HP:0000119	Abnormality of the genitourinary system	79783	SUGCT	ORPHA:35706
HP:0000119	Abnormality of the genitourinary system	79783	SUGCT	OMIM:231690
HP:0000119	Abnormality of the genitourinary system	2639	GCDH	ORPHA:25
HP:0000119	Abnormality of the genitourinary system	2639	GCDH	OMIM:231670
HP:0000119	Abnormality of the genitourinary system	728294	D2HGDH	OMIM:600721
HP:0000119	Abnormality of the genitourinary system	1491	CTH	OMIM:219500
HP:0000119	Abnormality of the genitourinary system	1491	CTH	ORPHA:212
HP:0000119	Abnormality of the genitourinary system	55788	LMBRD1	OMIM:277380
HP:0000119	Abnormality of the genitourinary system	3242	HPD	OMIM:276710
HP:0000119	Abnormality of the genitourinary system	3242	HPD	OMIM:140350
HP:0000119	Abnormality of the genitourinary system	3242	HPD	ORPHA:2118
HP:0000119	Abnormality of the genitourinary system	6898	TAT	OMIM:276600
HP:0000119	Abnormality of the genitourinary system	7019	TFAM	OMIM:617156
HP:0000119	Abnormality of the genitourinary system	5498	PPOX	OMIM:176200
HP:0000119	Abnormality of the genitourinary system	5498	PPOX	ORPHA:79473
HP:0000119	Abnormality of the genitourinary system	10243	GPHN	OMIM:615501
HP:0000119	Abnormality of the genitourinary system	197322	ACSF3	ORPHA:289504
HP:0000119	Abnormality of the genitourinary system	3033	HADH	OMIM:231530
HP:0000119	Abnormality of the genitourinary system	3033	HADH	ORPHA:71212
HP:0000119	Abnormality of the genitourinary system	55065	SLC52A1	OMIM:615026
HP:0000119	Abnormality of the genitourinary system	28976	ACAD9	OMIM:611126
HP:0000119	Abnormality of the genitourinary system	28976	ACAD9	ORPHA:99901
HP:0000119	Abnormality of the genitourinary system	27034	ACAD8	ORPHA:79159
HP:0000119	Abnormality of the genitourinary system	6584	SLC22A5	OMIM:212140
HP:0000119	Abnormality of the genitourinary system	445	ASS1	OMIM:215700
HP:0000119	Abnormality of the genitourinary system	23474	ETHE1	ORPHA:51188
HP:0000119	Abnormality of the genitourinary system	23474	ETHE1	OMIM:602473
HP:0000119	Abnormality of the genitourinary system	8818	DPM2	ORPHA:329178
HP:0000119	Abnormality of the genitourinary system	8813	DPM1	ORPHA:79322
HP:0000119	Abnormality of the genitourinary system	51763	INPP5K	ORPHA:559
HP:0000119	Abnormality of the genitourinary system	7128	TNFAIP3	OMIM:616744
HP:0000119	Abnormality of the genitourinary system	64421	DCLRE1C	OMIM:602450
HP:0000119	Abnormality of the genitourinary system	5077	PAX3	OMIM:193500
HP:0000119	Abnormality of the genitourinary system	146845	CFAP52	OMIM:619607
HP:0000119	Abnormality of the genitourinary system	80726	IQCN	OMIM:620170
HP:0000119	Abnormality of the genitourinary system	55329	MNS1	OMIM:618948
HP:0000119	Abnormality of the genitourinary system	89869	PLCZ1	OMIM:617214
HP:0000119	Abnormality of the genitourinary system	85452	CFAP74	OMIM:620197
HP:0000119	Abnormality of the genitourinary system	55779	CFAP44	OMIM:617593
HP:0000119	Abnormality of the genitourinary system	284382	ACTL9	OMIM:619258
HP:0000119	Abnormality of the genitourinary system	3000	GUCY2D	OMIM:204000
HP:0000119	Abnormality of the genitourinary system	80207	OPA3	OMIM:258501
HP:0000119	Abnormality of the genitourinary system	131118	DNAJC19	OMIM:610198
HP:0000119	Abnormality of the genitourinary system	92609	TIMM50	OMIM:617698
HP:0000119	Abnormality of the genitourinary system	3155	HMGCL	ORPHA:20
HP:0000119	Abnormality of the genitourinary system	3155	HMGCL	OMIM:246450
HP:0000119	Abnormality of the genitourinary system	6530	SLC6A2	OMIM:604715
HP:0000119	Abnormality of the genitourinary system	435	ASL	ORPHA:23
HP:0000119	Abnormality of the genitourinary system	435	ASL	OMIM:207900
HP:0000119	Abnormality of the genitourinary system	1497	CTNS	OMIM:219800
HP:0000119	Abnormality of the genitourinary system	1497	CTNS	ORPHA:411629
HP:0000119	Abnormality of the genitourinary system	1497	CTNS	ORPHA:411634
HP:0000119	Abnormality of the genitourinary system	6505	SLC1A1	OMIM:222730
HP:0000119	Abnormality of the genitourinary system	4952	OCRL	OMIM:300555
HP:0000119	Abnormality of the genitourinary system	4952	OCRL	OMIM:309000
HP:0000119	Abnormality of the genitourinary system	4952	OCRL	ORPHA:534
HP:0000119	Abnormality of the genitourinary system	51095	TRNT1	OMIM:616084
HP:0000119	Abnormality of the genitourinary system	4574	MT-TS1	OMIM:220110
HP:0000119	Abnormality of the genitourinary system	4570	MT-TN	OMIM:220110
HP:0000119	Abnormality of the genitourinary system	6834	SURF1	OMIM:220110
HP:0000119	Abnormality of the genitourinary system	54914	FOCAD	OMIM:619991
HP:0000119	Abnormality of the genitourinary system	2592	GALT	OMIM:230400
HP:0000119	Abnormality of the genitourinary system	84334	COA8	ORPHA:436271
HP:0000119	Abnormality of the genitourinary system	10667	FARS2	OMIM:614946
HP:0000119	Abnormality of the genitourinary system	1184	CLCN5	OMIM:308990
HP:0000119	Abnormality of the genitourinary system	1184	CLCN5	OMIM:300009
HP:0000119	Abnormality of the genitourinary system	5830	PEX5	OMIM:214110
HP:0000119	Abnormality of the genitourinary system	1373	CPS1	ORPHA:147
HP:0000119	Abnormality of the genitourinary system	5009	OTC	ORPHA:664
HP:0000119	Abnormality of the genitourinary system	7372	UMPS	ORPHA:30
HP:0000119	Abnormality of the genitourinary system	617	BCS1L	OMIM:603358
HP:0000119	Abnormality of the genitourinary system	617	BCS1L	OMIM:124000
HP:0000119	Abnormality of the genitourinary system	4141	MARS1	OMIM:615486
HP:0000119	Abnormality of the genitourinary system	2628	GATM	OMIM:134600
HP:0000119	Abnormality of the genitourinary system	137682	NDUFAF6	OMIM:618913
HP:0000119	Abnormality of the genitourinary system	55503	TRPV6	ORPHA:417
HP:0000119	Abnormality of the genitourinary system	846	CASR	ORPHA:417
HP:0000119	Abnormality of the genitourinary system	846	CASR	OMIM:239200
HP:0000119	Abnormality of the genitourinary system	2729	GCLC	ORPHA:33574
HP:0000119	Abnormality of the genitourinary system	4758	NEU1	ORPHA:812
HP:0000119	Abnormality of the genitourinary system	1962	EHHADH	OMIM:615605
HP:0000119	Abnormality of the genitourinary system	540	ATP7B	OMIM:277900
HP:0000119	Abnormality of the genitourinary system	5189	PEX1	OMIM:214100
HP:0000119	Abnormality of the genitourinary system	4942	OAT	ORPHA:414
HP:0000119	Abnormality of the genitourinary system	2271	FH	OMIM:606812
HP:0000119	Abnormality of the genitourinary system	10559	SLC35A1	OMIM:603585
HP:0000119	Abnormality of the genitourinary system	100131801	PET100	OMIM:619055
HP:0000119	Abnormality of the genitourinary system	10841	FTCD	OMIM:229100
HP:0000119	Abnormality of the genitourinary system	10560	SLC19A2	OMIM:249270
HP:0000119	Abnormality of the genitourinary system	7084	TK2	OMIM:609560
HP:0000119	Abnormality of the genitourinary system	3172	HNF4A	OMIM:616026
HP:0000119	Abnormality of the genitourinary system	50628	GEMIN4	OMIM:617913
HP:0000119	Abnormality of the genitourinary system	8942	KYNU	OMIM:236800
HP:0000119	Abnormality of the genitourinary system	4668	NAGA	OMIM:609242
HP:0000119	Abnormality of the genitourinary system	91647	ATPAF2	OMIM:604273
HP:0000119	Abnormality of the genitourinary system	3081	HGD	ORPHA:56
HP:0000119	Abnormality of the genitourinary system	9056	SLC7A7	OMIM:222700
HP:0000119	Abnormality of the genitourinary system	26276	VPS33B	OMIM:208085
HP:0000119	Abnormality of the genitourinary system	8803	SUCLA2	OMIM:612073
HP:0000119	Abnormality of the genitourinary system	8803	SUCLA2	ORPHA:1933
HP:0000119	Abnormality of the genitourinary system	132158	GLYCTK	OMIM:220120
HP:0000119	Abnormality of the genitourinary system	9054	NFS1	OMIM:619386
HP:0000119	Abnormality of the genitourinary system	50484	RRM2B	OMIM:612075
HP:0000119	Abnormality of the genitourinary system	63894	VIPAS39	OMIM:613404
HP:0000119	Abnormality of the genitourinary system	26275	HIBCH	OMIM:250620
HP:0000119	Abnormality of the genitourinary system	2068	ERCC2	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	7507	XPA	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	2071	ERCC3	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	7508	XPC	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	1643	DDB2	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	2072	ERCC4	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	2073	ERCC5	ORPHA:910
HP:0000119	Abnormality of the genitourinary system	2582	GALE	OMIM:230350
HP:0000119	Abnormality of the genitourinary system	11005	SPINK5	ORPHA:634
HP:0000119	Abnormality of the genitourinary system	4337	MOCS1	OMIM:252150
HP:0000119	Abnormality of the genitourinary system	6821	SUOX	OMIM:272300
HP:0000119	Abnormality of the genitourinary system	6999	TDO2	OMIM:600627
HP:0000119	Abnormality of the genitourinary system	149775	GNAS-AS1	OMIM:603233
HP:0000119	Abnormality of the genitourinary system	8675	STX16	OMIM:603233
HP:0000119	Abnormality of the genitourinary system	8675	STX16	ORPHA:94089
HP:0000119	Abnormality of the genitourinary system	6557	SLC12A1	OMIM:601678
HP:0000119	Abnormality of the genitourinary system	3758	KCNJ1	OMIM:241200
HP:0000119	Abnormality of the genitourinary system	2767	GNA11	OMIM:145981
HP:0000119	Abnormality of the genitourinary system	55811	ADCY10	ORPHA:2197
HP:0000119	Abnormality of the genitourinary system	513	ATP5F1D	OMIM:618120
HP:0000119	Abnormality of the genitourinary system	125988	MICOS13	OMIM:618329
HP:0000119	Abnormality of the genitourinary system	125988	MICOS13	ORPHA:67047
HP:0000119	Abnormality of the genitourinary system	55750	AGK	OMIM:212350
HP:0000119	Abnormality of the genitourinary system	112812	FDX2	OMIM:251900
HP:0000119	Abnormality of the genitourinary system	514	ATP5F1E	OMIM:614053
HP:0000119	Abnormality of the genitourinary system	498	ATP5F1A	OMIM:615228
HP:0000119	Abnormality of the genitourinary system	6901	TAFAZZIN	OMIM:302060
HP:0000119	Abnormality of the genitourinary system	84947	SERAC1	OMIM:614739
HP:0000119	Abnormality of the genitourinary system	2990	GUSB	OMIM:253220
HP:0000119	Abnormality of the genitourinary system	3425	IDUA	OMIM:607014
HP:0000119	Abnormality of the genitourinary system	3423	IDS	OMIM:309900
HP:0000119	Abnormality of the genitourinary system	2328	FMO3	OMIM:602079
HP:0000119	Abnormality of the genitourinary system	2328	FMO3	ORPHA:468726
HP:0000119	Abnormality of the genitourinary system	2539	G6PD	OMIM:300908
HP:0000119	Abnormality of the genitourinary system	51251	NT5C3A	OMIM:266120
HP:0000119	Abnormality of the genitourinary system	100303755	PET117	OMIM:619063
HP:0000119	Abnormality of the genitourinary system	4716	NDUFB10	OMIM:619003
HP:0000119	Abnormality of the genitourinary system	197257	LDHD	OMIM:245450
HP:0000119	Abnormality of the genitourinary system	4704	NDUFA9	OMIM:618247
HP:0000119	Abnormality of the genitourinary system	57128	LYRM4	OMIM:615595
HP:0000119	Abnormality of the genitourinary system	89874	SLC25A21	OMIM:618811
HP:0000119	Abnormality of the genitourinary system	54704	PDP1	ORPHA:79246
HP:0000119	Abnormality of the genitourinary system	10677	AVIL	OMIM:618594
HP:0000119	Abnormality of the genitourinary system	977	CD151	OMIM:609057
HP:0000119	Abnormality of the genitourinary system	55764	IFT122	OMIM:218330
HP:0000119	Abnormality of the genitourinary system	55863	TMEM126B	OMIM:618250
HP:0000119	Abnormality of the genitourinary system	149461	CLDN19	OMIM:248190
HP:0000119	Abnormality of the genitourinary system	93649	MYOCD	OMIM:618719
HP:0000119	Abnormality of the genitourinary system	64127	NOD2	ORPHA:90340
HP:0000119	Abnormality of the genitourinary system	84992	PIGY	OMIM:616809
HP:0000119	Abnormality of the genitourinary system	966	CD59	OMIM:612300
HP:0000119	Abnormality of the genitourinary system	6850	SYK	OMIM:619381
HP:0000119	Abnormality of the genitourinary system	4689	NCF4	OMIM:613960
HP:0000119	Abnormality of the genitourinary system	2000	ELF4	OMIM:301074
HP:0000119	Abnormality of the genitourinary system	917	CD3G	OMIM:615607
HP:0000119	Abnormality of the genitourinary system	55157	DARS2	ORPHA:137898
HP:0000119	Abnormality of the genitourinary system	23317	DNAJC13	ORPHA:411602
HP:0000119	Abnormality of the genitourinary system	1981	EIF4G1	ORPHA:411602
HP:0000119	Abnormality of the genitourinary system	55737	VPS35	ORPHA:411602
HP:0000119	Abnormality of the genitourinary system	26058	GIGYF2	ORPHA:411602
HP:0000119	Abnormality of the genitourinary system	11231	SEC63	ORPHA:2924
HP:0000119	Abnormality of the genitourinary system	5589	PRKCSH	ORPHA:2924
HP:0000119	Abnormality of the genitourinary system	4041	LRP5	ORPHA:2924
HP:0000119	Abnormality of the genitourinary system	1186	CLCN7	OMIM:618541
HP:0000119	Abnormality of the genitourinary system	8449	DHX16	OMIM:618733
HP:0000119	Abnormality of the genitourinary system	10015	PDCD6IP	OMIM:620047
HP:0000119	Abnormality of the genitourinary system	476	ATP1A1	OMIM:618314
HP:0000119	Abnormality of the genitourinary system	476	ATP1A1	ORPHA:564178
HP:0000119	Abnormality of the genitourinary system	10686	CLDN16	OMIM:248250
HP:0000119	Abnormality of the genitourinary system	2591	GALNT3	OMIM:211900
HP:0000119	Abnormality of the genitourinary system	4552	MTRR	ORPHA:2169
HP:0000119	Abnormality of the genitourinary system	55858	TMEM165	OMIM:614727
HP:0000119	Abnormality of the genitourinary system	3078	CFHR1	OMIM:235400
HP:0000119	Abnormality of the genitourinary system	10878	CFHR3	OMIM:235400
HP:0000119	Abnormality of the genitourinary system	84168	ANTXR1	OMIM:230740
HP:0000119	Abnormality of the genitourinary system	6714	SRC	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	10395	DLC1	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	8313	AXIN2	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	5782	PTPN12	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	5320	PLA2G2A	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	6790	AURKA	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	27030	MLH3	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	581	BAX	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	25788	RAD54B	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	7097	TLR2	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	4163	MCC	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	5157	PDGFRL	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	5795	PTPRJ	OMIM:114500
HP:0000119	Abnormality of the genitourinary system	7030	TFE3	OMIM:300854
HP:0000119	Abnormality of the genitourinary system	4968	OGG1	OMIM:144700
HP:0000119	Abnormality of the genitourinary system	11236	RNF139	OMIM:144700
HP:0000119	Abnormality of the genitourinary system	55193	PBRM1	OMIM:144700
HP:0000119	Abnormality of the genitourinary system	9817	KEAP1	ORPHA:276399
HP:0000119	Abnormality of the genitourinary system	7373	COL14A1	ORPHA:79501
HP:0000119	Abnormality of the genitourinary system	79719	AAGAB	ORPHA:79501
HP:0000119	Abnormality of the genitourinary system	10229	COQ7	OMIM:616733
HP:0000119	Abnormality of the genitourinary system	11274	USP18	OMIM:617397
HP:0000119	Abnormality of the genitourinary system	55191	NADSYN1	OMIM:618845
HP:0000119	Abnormality of the genitourinary system	57724	EPG5	ORPHA:1493
HP:0000119	Abnormality of the genitourinary system	3026	HABP2	ORPHA:319487
HP:0000119	Abnormality of the genitourinary system	4233	MET	OMIM:605074
HP:0000119	Abnormality of the genitourinary system	5546	PRCC	OMIM:605074
HP:0000119	Abnormality of the genitourinary system	285362	SUMF1	ORPHA:585
HP:0000119	Abnormality of the genitourinary system	285362	SUMF1	OMIM:272200
HP:0000119	Abnormality of the genitourinary system	84572	GNPTG	OMIM:252605
HP:0000119	Abnormality of the genitourinary system	6023	RMRP	ORPHA:175
HP:0000119	Abnormality of the genitourinary system	79158	GNPTAB	OMIM:252600
HP:0000119	Abnormality of the genitourinary system	79158	GNPTAB	OMIM:252500
HP:0000119	Abnormality of the genitourinary system	51241	COX16	OMIM:619355
HP:0000119	Abnormality of the genitourinary system	55687	TRMU	OMIM:613070
HP:0000119	Abnormality of the genitourinary system	84570	COL25A1	ORPHA:91411
HP:0000119	Abnormality of the genitourinary system	79776	ZFHX4	ORPHA:91411
HP:0000119	Abnormality of the genitourinary system	57505	AARS2	OMIM:615889
HP:0000119	Abnormality of the genitourinary system	11261	CHP1	OMIM:618438
HP:0000119	Abnormality of the genitourinary system	8888	MCM3AP	OMIM:618124
HP:0000119	Abnormality of the genitourinary system	51434	ANAPC7	OMIM:619699
HP:0000119	Abnormality of the genitourinary system	80185	TTI2	ORPHA:391307
HP:0000119	Abnormality of the genitourinary system	283677	REC114	OMIM:619176
HP:0000119	Abnormality of the genitourinary system	7784	ZP3	OMIM:617712
HP:0000119	Abnormality of the genitourinary system	9453	GGPS1	OMIM:619518
HP:0000119	Abnormality of the genitourinary system	22917	ZP1	OMIM:615774
HP:0000119	Abnormality of the genitourinary system	150365	MEI1	OMIM:618431
HP:0000119	Abnormality of the genitourinary system	79703	TOP6BL	OMIM:618432
HP:0000119	Abnormality of the genitourinary system	431705	ASTL	OMIM:619643
HP:0000119	Abnormality of the genitourinary system	79983	POF1B	OMIM:300604
HP:0000119	Abnormality of the genitourinary system	7783	ZP2	OMIM:618353
HP:0000119	Abnormality of the genitourinary system	79816	TLE6	OMIM:616814
HP:0000119	Abnormality of the genitourinary system	5241	PGR	OMIM:264080
HP:0000119	Abnormality of the genitourinary system	678	ZFP36L2	OMIM:620154
HP:0000119	Abnormality of the genitourinary system	153642	ARSK	OMIM:619698
HP:0000119	Abnormality of the genitourinary system	411	ARSB	OMIM:253200
HP:0000119	Abnormality of the genitourinary system	5213	PFKM	OMIM:232800
HP:0000119	Abnormality of the genitourinary system	37	ACADVL	OMIM:201475
HP:0000119	Abnormality of the genitourinary system	5255	PHKA1	OMIM:300559
HP:0000119	Abnormality of the genitourinary system	383	ARG1	OMIM:207800
HP:0000119	Abnormality of the genitourinary system	383	ARG1	ORPHA:90
HP:0000119	Abnormality of the genitourinary system	50617	ATP6V0A4	OMIM:602722
HP:0000119	Abnormality of the genitourinary system	6521	SLC4A1	OMIM:611590
HP:0000119	Abnormality of the genitourinary system	6521	SLC4A1	OMIM:179800
HP:0000119	Abnormality of the genitourinary system	1314	COPA	OMIM:616414
HP:0000119	Abnormality of the genitourinary system	51256	TBC1D7	OMIM:248000
HP:0000119	Abnormality of the genitourinary system	27238	GPKOW	ORPHA:2570
HP:0000119	Abnormality of the genitourinary system	5075	PAX1	ORPHA:2792
HP:0000119	Abnormality of the genitourinary system	9573	GDF3	ORPHA:2345
HP:0000119	Abnormality of the genitourinary system	4222	MEOX1	ORPHA:2345
HP:0000119	Abnormality of the genitourinary system	3476	IGBP1	OMIM:300472
HP:0000119	Abnormality of the genitourinary system	55610	VPS50	OMIM:619685
HP:0000119	Abnormality of the genitourinary system	5648	MASP1	ORPHA:293843
HP:0000119	Abnormality of the genitourinary system	317662	FAM149B1	ORPHA:2754
HP:0000119	Abnormality of the genitourinary system	22884	WDR37	OMIM:618652
HP:0000119	Abnormality of the genitourinary system	4081	MAB21L1	OMIM:618479
HP:0000119	Abnormality of the genitourinary system	3763	KCNJ6	ORPHA:435628
HP:0000119	Abnormality of the genitourinary system	5396	PRRX1	ORPHA:990
HP:0000119	Abnormality of the genitourinary system	5048	PAFAH1B1	ORPHA:217385
HP:0000119	Abnormality of the genitourinary system	7531	YWHAE	ORPHA:217385
HP:0000119	Abnormality of the genitourinary system	2690	GHR	ORPHA:633
HP:0000119	Abnormality of the genitourinary system	2811	GP1BA	ORPHA:274
HP:0000119	Abnormality of the genitourinary system	2815	GP9	ORPHA:274
HP:0000119	Abnormality of the genitourinary system	10606	PAICS	OMIM:619859
HP:0000119	Abnormality of the genitourinary system	4913	NTHL1	OMIM:616415
HP:0000119	Abnormality of the genitourinary system	4913	NTHL1	ORPHA:454840
HP:0000119	Abnormality of the genitourinary system	5925	RB1	OMIM:109800
HP:0000119	Abnormality of the genitourinary system	4292	MLH1	ORPHA:587
HP:0000119	Abnormality of the genitourinary system	2956	MSH6	ORPHA:587
HP:0000119	Abnormality of the genitourinary system	4436	MSH2	ORPHA:587
HP:0000119	Abnormality of the genitourinary system	126792	B3GALT6	ORPHA:536467
HP:0000119	Abnormality of the genitourinary system	201163	FLCN	OMIM:135150
HP:0000119	Abnormality of the genitourinary system	25913	POT1	OMIM:616568
HP:0000119	Abnormality of the genitourinary system	657	BMPR1A	ORPHA:440437
HP:0000119	Abnormality of the genitourinary system	23438	HARS2	OMIM:614926
HP:0000119	Abnormality of the genitourinary system	57231	SNX14	OMIM:616354
HP:0000119	Abnormality of the genitourinary system	57231	SNX14	ORPHA:397709
HP:0000119	Abnormality of the genitourinary system	5575	PRKAR1B	OMIM:619680
HP:0000119	Abnormality of the genitourinary system	649	BMP1	OMIM:614856
HP:0000119	Abnormality of the genitourinary system	165918	RNF168	ORPHA:420741
HP:0000119	Abnormality of the genitourinary system	6524	SLC5A2	OMIM:233100
HP:0000119	Abnormality of the genitourinary system	1757	SARDH	ORPHA:3129
HP:0000119	Abnormality of the genitourinary system	7498	XDH	OMIM:278300
HP:0000119	Abnormality of the genitourinary system	6774	STAT3	ORPHA:99885
HP:0000119	Abnormality of the genitourinary system	5354	PLP1	ORPHA:280229
HP:0000119	Abnormality of the genitourinary system	3028	HSD17B10	ORPHA:391428
HP:0000119	Abnormality of the genitourinary system	2258	FGF13	OMIM:301058
HP:0000119	Abnormality of the genitourinary system	10472	ZBTB18	OMIM:612337
HP:0000119	Abnormality of the genitourinary system	91179	SCARF2	OMIM:600920
HP:0000119	Abnormality of the genitourinary system	5297	PI4KA	OMIM:619708
HP:0000119	Abnormality of the genitourinary system	26281	FGF20	OMIM:615721
HP:0000119	Abnormality of the genitourinary system	2674	GFRA1	OMIM:619887
HP:0000119	Abnormality of the genitourinary system	4174	MCM5	OMIM:617564
HP:0000119	Abnormality of the genitourinary system	4338	MOCS2	OMIM:252160
HP:0000119	Abnormality of the genitourinary system	6691	SPINK2	OMIM:618091
HP:0000119	Abnormality of the genitourinary system	10734	STAG3	OMIM:619672
HP:0000119	Abnormality of the genitourinary system	285498	RNF212	OMIM:619673
HP:0000119	Abnormality of the genitourinary system	158401	SHOC1	OMIM:619949
HP:0000119	Abnormality of the genitourinary system	145645	TERB2	OMIM:619645
HP:0000119	Abnormality of the genitourinary system	283847	TERB1	OMIM:619646
HP:0000119	Abnormality of the genitourinary system	54456	MOV10L1	OMIM:619878
HP:0000119	Abnormality of the genitourinary system	7153	TOP2A	ORPHA:635
HP:0000119	Abnormality of the genitourinary system	238	ALK	ORPHA:635
HP:0000119	Abnormality of the genitourinary system	389421	LIN28B	ORPHA:635
HP:0000119	Abnormality of the genitourinary system	4004	LMO1	ORPHA:635
HP:0000119	Abnormality of the genitourinary system	8929	PHOX2B	ORPHA:635
HP:0000119	Abnormality of the genitourinary system	6571	SLC18A2	OMIM:618049
HP:0000119	Abnormality of the genitourinary system	2584	GALK1	OMIM:230200
HP:0000119	Abnormality of the genitourinary system	9049	AIP	ORPHA:2965
HP:0000119	Abnormality of the genitourinary system	4126	MANBA	OMIM:248510
HP:0000119	Abnormality of the genitourinary system	2517	FUCA1	OMIM:230000
HP:0000119	Abnormality of the genitourinary system	175	AGA	OMIM:208400
HP:0000119	Abnormality of the genitourinary system	175	AGA	ORPHA:93
HP:0000119	Abnormality of the genitourinary system	1280	COL2A1	ORPHA:485
HP:0000119	Abnormality of the genitourinary system	2720	GLB1	OMIM:253010
HP:0000119	Abnormality of the genitourinary system	2588	GALNS	OMIM:253000
HP:0000119	Abnormality of the genitourinary system	55768	NGLY1	OMIM:615273
HP:0000119	Abnormality of the genitourinary system	5428	POLG	OMIM:203700
HP:0000119	Abnormality of the genitourinary system	51116	MRPS2	OMIM:617950
HP:0000119	Abnormality of the genitourinary system	57393	CLTRN	ORPHA:2116
HP:0000119	Abnormality of the genitourinary system	1244	ABCC2	ORPHA:234
HP:0000119	Abnormality of the genitourinary system	1756	DMD	ORPHA:98895
HP:0000119	Abnormality of the genitourinary system	4072	EPCAM	OMIM:613244
HP:0000119	Abnormality of the genitourinary system	5395	PMS2	OMIM:614337
HP:0000119	Abnormality of the genitourinary system	119559	SFXN4	OMIM:615578
HP:0000119	Abnormality of the genitourinary system	23417	MLYCD	OMIM:248360
HP:0000119	Abnormality of the genitourinary system	84693	MCEE	OMIM:251120
HP:0000119	Abnormality of the genitourinary system	51293	CD320	OMIM:613646
HP:0000119	Abnormality of the genitourinary system	326625	MMAB	OMIM:251110
HP:0000119	Abnormality of the genitourinary system	5892	RAD51D	ORPHA:145
HP:0000119	Abnormality of the genitourinary system	10111	RAD50	ORPHA:145
HP:0000119	Abnormality of the genitourinary system	580	BARD1	ORPHA:145
HP:0000119	Abnormality of the genitourinary system	2048	EPHB2	OMIM:603688
HP:0000119	Abnormality of the genitourinary system	463	ZFHX3	OMIM:176807
HP:0000119	Abnormality of the genitourinary system	1316	KLF6	OMIM:176807
HP:0000119	Abnormality of the genitourinary system	999	CDH1	OMIM:176807
HP:0000119	Abnormality of the genitourinary system	4601	MXI1	OMIM:176807
HP:0000119	Abnormality of the genitourinary system	8379	MAD1L1	OMIM:176807
HP:0000119	Abnormality of the genitourinary system	6041	RNASEL	OMIM:601518
HP:0000119	Abnormality of the genitourinary system	26585	GREM1	ORPHA:157794
HP:0000119	Abnormality of the genitourinary system	2304	FOXE1	OMIM:616534
HP:0000119	Abnormality of the genitourinary system	1806	DPYD	OMIM:274270
HP:0000119	Abnormality of the genitourinary system	1806	DPYD	ORPHA:1675
HP:0000119	Abnormality of the genitourinary system	1807	DPYS	OMIM:222748
HP:0000119	Abnormality of the genitourinary system	84660	CCDC62	OMIM:619803
HP:0000119	Abnormality of the genitourinary system	199720	GGN	OMIM:619826
HP:0000119	Abnormality of the genitourinary system	151254	C2CD6	OMIM:619805
HP:0000119	Abnormality of the genitourinary system	11055	ZPBP	OMIM:619799
HP:0000119	Abnormality of the genitourinary system	283417	DPY19L2	OMIM:613958
HP:0000119	Abnormality of the genitourinary system	83893	SPATA16	OMIM:102530
HP:0000119	Abnormality of the genitourinary system	115948	ODAD3	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	54768	HYDIN	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	352909	DNAAF3	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	27148	STK36	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	51314	NME8	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	54970	TTC12	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	152110	NEK10	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	2302	FOXJ1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	221421	RSPH9	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	85478	CCDC65	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	55036	CCDC40	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	51364	ZMYND10	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	64446	DNAI2	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	6674	SPAG1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	83544	DNAL1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	89765	RSPH1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	83538	ODAD4	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	200373	CFAP221	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	374407	DNAJB13	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	55172	DNAAF2	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	161582	DNAAF4	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	2622	GAS8	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	23639	DNAAF11	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	27019	DNAI1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	345895	RSPH4A	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	54919	DNAAF5	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	388389	CCDC103	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	93233	ODAD1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	55130	ODAD2	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	1767	DNAH5	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	83861	RSPH3	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	345643	MCIDAS	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	56683	CFAP298	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	79925	SPEF2	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	10309	CCNO	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	115399	LRRC56	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	139212	DNAAF6	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	123872	DNAAF1	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	85016	CFAP300	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	339829	CCDC39	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	8701	DNAH11	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	246176	GAS2L2	ORPHA:244
HP:0000119	Abnormality of the genitourinary system	146754	DNAH2	OMIM:619094
HP:0000119	Abnormality of the genitourinary system	8632	DNAH17	OMIM:618643
HP:0000119	Abnormality of the genitourinary system	83894	TTC29	OMIM:618745
HP:0000119	Abnormality of the genitourinary system	755	CFAP410	OMIM:602271
HP:0000119	Abnormality of the genitourinary system	79846	CFAP69	OMIM:617959
HP:0000119	Abnormality of the genitourinary system	200162	SPAG17	OMIM:619380
HP:0000119	Abnormality of the genitourinary system	116369	SLC26A8	OMIM:606766
HP:0000119	Abnormality of the genitourinary system	159686	CFAP58	OMIM:619144
HP:0000119	Abnormality of the genitourinary system	122481	AK7	OMIM:617965
HP:0000119	Abnormality of the genitourinary system	117144	CATSPER1	OMIM:612997
HP:0000119	Abnormality of the genitourinary system	157855	KCNU1	OMIM:620196
HP:0000119	Abnormality of the genitourinary system	22873	DZIP1	OMIM:619102
HP:0000119	Abnormality of the genitourinary system	255101	CFAP65	OMIM:618664
HP:0000119	Abnormality of the genitourinary system	118491	CFAP70	OMIM:618670
HP:0000119	Abnormality of the genitourinary system	11146	GLMN	ORPHA:83454
HP:0000119	Abnormality of the genitourinary system	65250	CPLANE1	OMIM:614615
HP:0000119	Abnormality of the genitourinary system	55650	PIGV	OMIM:239300
HP:0000119	Abnormality of the genitourinary system	5551	PRF1	ORPHA:540
HP:0000119	Abnormality of the genitourinary system	8676	STX11	ORPHA:540
HP:0000119	Abnormality of the genitourinary system	201294	UNC13D	ORPHA:540
HP:0000119	Abnormality of the genitourinary system	6813	STXBP2	ORPHA:540
HP:0000119	Abnormality of the genitourinary system	1019	CDK4	ORPHA:99971
HP:0000119	Abnormality of the genitourinary system	6809	STX3	ORPHA:2290
HP:0000119	Abnormality of the genitourinary system	4645	MYO5B	ORPHA:2290
HP:0000119	Abnormality of the genitourinary system	1534	CYB561	OMIM:618182
HP:0000119	Abnormality of the genitourinary system	10568	SLC34A2	ORPHA:60025
HP:0000119	Abnormality of the genitourinary system	5317	PKP1	ORPHA:158668
HP:0000119	Abnormality of the genitourinary system	131669	UROC1	OMIM:276880
HP:0000119	Abnormality of the genitourinary system	131669	UROC1	ORPHA:210128
HP:0000119	Abnormality of the genitourinary system	866	SERPINA6	OMIM:611489
HP:0000119	Abnormality of the genitourinary system	4967	OGDH	ORPHA:31
HP:0000119	Abnormality of the genitourinary system	9488	PIGB	OMIM:618580
HP:0000119	Abnormality of the genitourinary system	2746	GLUD1	ORPHA:35878
HP:0000119	Abnormality of the genitourinary system	27010	TPK1	OMIM:614458
HP:0000119	Abnormality of the genitourinary system	1738	DLD	ORPHA:2394
HP:0000119	Abnormality of the genitourinary system	6576	SLC25A1	OMIM:615182
HP:0000119	Abnormality of the genitourinary system	10916	MAGED2	OMIM:300971
HP:0000119	Abnormality of the genitourinary system	1861	TOR1A	OMIM:618947
HP:0000119	Abnormality of the genitourinary system	1591	CYP24A1	OMIM:143880
HP:0000119	Abnormality of the genitourinary system	9493	KIF23	OMIM:105600
HP:0000119	Abnormality of the genitourinary system	3716	JAK1	OMIM:618999
HP:0000119	Abnormality of the genitourinary system	1063	CENPF	OMIM:243605
HP:0000119	Abnormality of the genitourinary system	2157	F8	ORPHA:169802
HP:0000119	Abnormality of the genitourinary system	1650	DDOST	ORPHA:300536
HP:0000119	Abnormality of the genitourinary system	375056	MIA3	OMIM:619269
HP:0000119	Abnormality of the genitourinary system	1585	CYP11B2	ORPHA:556030
HP:0000119	Abnormality of the genitourinary system	5880	RAC2	OMIM:608203
HP:0000119	Abnormality of the genitourinary system	8425	LTBP4	OMIM:613177
HP:0000119	Abnormality of the genitourinary system	4914	NTRK1	ORPHA:642
HP:0000119	Abnormality of the genitourinary system	91461	PKDCC	OMIM:618821
HP:0000119	Abnormality of the genitourinary system	6522	SLC4A2	OMIM:620366
HP:0000119	Abnormality of the genitourinary system	5442	POLRMT	OMIM:619743
HP:0000119	Abnormality of the genitourinary system	51574	LARP7	OMIM:615071
HP:0000119	Abnormality of the genitourinary system	104	ADARB1	OMIM:618862
HP:0000119	Abnormality of the genitourinary system	4781	NFIB	OMIM:618286
HP:0000119	Abnormality of the genitourinary system	84282	RNF135	ORPHA:137634
HP:0000119	Abnormality of the genitourinary system	56983	POGLUT1	ORPHA:79145
HP:0000119	Abnormality of the genitourinary system	3852	KRT5	ORPHA:79145
HP:0000119	Abnormality of the genitourinary system	23509	POFUT1	ORPHA:79145
HP:0000119	Abnormality of the genitourinary system	55851	PSENEN	ORPHA:79145
HP:0000119	Abnormality of the genitourinary system	124404	SEPTIN12	OMIM:614822
HP:0000119	Abnormality of the genitourinary system	8556	CDC14A	OMIM:608653
HP:0000119	Abnormality of the genitourinary system	286151	FBXO43	OMIM:619696
HP:0000119	Abnormality of the genitourinary system	84071	ARMC2	OMIM:618433
HP:0000119	Abnormality of the genitourinary system	144132	DNHD1	OMIM:619712
HP:0000119	Abnormality of the genitourinary system	140732	SUN5	ORPHA:529970
HP:0000119	Abnormality of the genitourinary system	83449	PMFBP1	ORPHA:529970
HP:0000119	Abnormality of the genitourinary system	676	BRDT	OMIM:617644
HP:0000119	Abnormality of the genitourinary system	80705	TSGA10	OMIM:617961
HP:0000119	Abnormality of the genitourinary system	201134	CEP112	OMIM:619044
HP:0000119	Abnormality of the genitourinary system	2947	GSTM3	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	1084	CEACAM3	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	6556	SLC11A1	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	51164	DCTN4	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	3783	KCNN4	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	4282	MIF	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	6550	SLC9A3	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	115019	SLC26A9	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	11254	SLC6A14	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	5265	SERPINA1	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	22802	CLCA4	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	4680	CEACAM6	ORPHA:586
HP:0000119	Abnormality of the genitourinary system	7381	UQCRB	OMIM:615158
HP:0000119	Abnormality of the genitourinary system	4329	ALDH6A1	OMIM:614105
HP:0000119	Abnormality of the genitourinary system	285282	RABL3	ORPHA:1333
HP:0000119	Abnormality of the genitourinary system	23022	PALLD	ORPHA:1333
HP:0000119	Abnormality of the genitourinary system	9361	LONP1	ORPHA:79243
HP:0000119	Abnormality of the genitourinary system	5160	PDHA1	ORPHA:79243
HP:0000119	Abnormality of the genitourinary system	51601	LIPT1	OMIM:616299
HP:0000119	Abnormality of the genitourinary system	6795	AURKC	OMIM:243060
HP:0000119	Abnormality of the genitourinary system	4088	SMAD3	ORPHA:284984
HP:0000119	Abnormality of the genitourinary system	57514	ARHGAP31	OMIM:100300
HP:0000119	Abnormality of the genitourinary system	81704	DOCK8	ORPHA:217390
HP:0000119	Abnormality of the genitourinary system	26040	SETBP1	OMIM:269150
HP:0000119	Abnormality of the genitourinary system	26040	SETBP1	ORPHA:798
HP:0000119	Abnormality of the genitourinary system	403	ARL3	OMIM:618161
HP:0000119	Abnormality of the genitourinary system	10388	SYCP2	OMIM:258150
HP:0000119	Abnormality of the genitourinary system	375307	CATIP	OMIM:619379
HP:0000119	Abnormality of the genitourinary system	254528	MEIOB	OMIM:617706
HP:0000119	Abnormality of the genitourinary system	2516	NR5A1	OMIM:613957
HP:0000119	Abnormality of the genitourinary system	56154	TEX15	OMIM:617960
HP:0000119	Abnormality of the genitourinary system	122402	TDRD9	OMIM:618110
HP:0000119	Abnormality of the genitourinary system	23405	DICER1	OMIM:180295
HP:0000119	Abnormality of the genitourinary system	24145	PANX1	ORPHA:488191
HP:0000119	Abnormality of the genitourinary system	494551	WEE2	ORPHA:488191
HP:0000119	Abnormality of the genitourinary system	197135	PATL2	ORPHA:488191
HP:0000119	Abnormality of the genitourinary system	347688	TUBB8	ORPHA:488191
HP:0000119	Abnormality of the genitourinary system	57104	PNPLA2	ORPHA:565612
HP:0000119	Abnormality of the genitourinary system	28234	SLCO1B3	ORPHA:3111
HP:0000119	Abnormality of the genitourinary system	10599	SLCO1B1	ORPHA:3111
HP:0000119	Abnormality of the genitourinary system	79798	ARMC5	ORPHA:189427
HP:0000119	Abnormality of the genitourinary system	3064	HTT	ORPHA:399
HP:0000119	Abnormality of the genitourinary system	6515	SLC2A3	ORPHA:399
HP:0000119	Abnormality of the genitourinary system	5566	PRKACA	ORPHA:189439
HP:0000119	Abnormality of the genitourinary system	8622	PDE8B	ORPHA:189439
HP:0000119	Abnormality of the genitourinary system	50940	PDE11A	ORPHA:189439
HP:0000119	Abnormality of the genitourinary system	84196	USP48	ORPHA:96253
HP:0000119	Abnormality of the genitourinary system	9101	USP8	ORPHA:96253
HP:0000119	Abnormality of the genitourinary system	64072	CDH23	ORPHA:96253
HP:0000119	Abnormality of the genitourinary system	2908	NR3C1	ORPHA:96253
HP:0000119	Abnormality of the genitourinary system	673	BRAF	ORPHA:96253
HP:0000119	Abnormality of the genitourinary system	85007	PHYKPL	OMIM:615011
HP:0000119	Abnormality of the genitourinary system	8930	MBD4	OMIM:619975
HP:0000119	Abnormality of the genitourinary system	29958	DMGDH	OMIM:605850
HP:0000119	Abnormality of the genitourinary system	3795	KHK	ORPHA:2056
HP:0000119	Abnormality of the genitourinary system	644	BLVRA	OMIM:614156
HP:0000119	Abnormality of the genitourinary system	161742	SPRED1	ORPHA:137605
HP:0000119	Abnormality of the genitourinary system	4882	NPR2	OMIM:615923
HP:0000119	Abnormality of the genitourinary system	2624	GATA2	OMIM:614172
HP:0000119	Abnormality of the genitourinary system	443	ASPA	OMIM:271900
HP:0000119	Abnormality of the genitourinary system	64849	SLC13A3	OMIM:618384
HP:0000119	Abnormality of the genitourinary system	64902	AGXT2	OMIM:210100
HP:0000119	Abnormality of the genitourinary system	200205	IBA57	OMIM:615330
HP:0000119	Abnormality of the genitourinary system	9154	SLC28A1	OMIM:618477
HP:0000119	Abnormality of the genitourinary system	4598	MVK	OMIM:260920
HP:0000119	Abnormality of the genitourinary system	4598	MVK	OMIM:610377
HP:0000119	Abnormality of the genitourinary system	7289	TULP3	OMIM:619902
HP:0000119	Abnormality of the genitourinary system	6341	SCO1	OMIM:619048
HP:0000119	Abnormality of the genitourinary system	763	CA5A	OMIM:615751
HP:0000119	Abnormality of the genitourinary system	5184	PEPD	OMIM:170100
HP:0000119	Abnormality of the genitourinary system	36	ACADSB	OMIM:610006
HP:0000119	Abnormality of the genitourinary system	4982	TNFRSF11B	OMIM:239000
HP:0000119	Abnormality of the genitourinary system	1769	DNAH8	OMIM:619095
HP:0000119	Abnormality of the genitourinary system	199223	TTC21A	OMIM:618429
HP:0000119	Abnormality of the genitourinary system	286464	CFAP47	OMIM:301059
HP:0000119	Abnormality of the genitourinary system	196385	DNAH10	OMIM:619515
HP:0000119	Abnormality of the genitourinary system	25981	DNAH1	OMIM:617576
HP:0000119	Abnormality of the genitourinary system	144406	CFAP251	OMIM:618152
HP:0000119	Abnormality of the genitourinary system	401024	FSIP2	OMIM:618153
HP:0000119	Abnormality of the genitourinary system	89876	CFAP91	OMIM:619177
HP:0000119	Abnormality of the genitourinary system	84074	QRICH2	OMIM:618341
HP:0000119	Abnormality of the genitourinary system	5092	PCBD1	OMIM:264070
HP:0000119	Abnormality of the genitourinary system	3141	HLCS	OMIM:253270
HP:0000119	Abnormality of the genitourinary system	56922	MCCC1	OMIM:210200
HP:0000119	Abnormality of the genitourinary system	2212	FCGR2A	OMIM:152700
HP:0000119	Abnormality of the genitourinary system	2213	FCGR2B	OMIM:152700
HP:0000119	Abnormality of the genitourinary system	1773	DNASE1	OMIM:152700
HP:0000119	Abnormality of the genitourinary system	54805	CNNM2	OMIM:613882
HP:0000119	Abnormality of the genitourinary system	9075	CLDN2	OMIM:301060
HP:0000119	Abnormality of the genitourinary system	25790	CFAP45	OMIM:619608
HP:0000119	Abnormality of the genitourinary system	140801	RPL10L	OMIM:619689
HP:0000119	Abnormality of the genitourinary system	92749	DRC1	OMIM:620222
HP:0000119	Abnormality of the genitourinary system	6578	SLCO2A1	OMIM:167100
HP:0000119	Abnormality of the genitourinary system	5053	PAH	OMIM:261600
HP:0000119	Abnormality of the genitourinary system	10166	SLC25A15	OMIM:238970
HP:0000119	Abnormality of the genitourinary system	55526	DHTKD1	OMIM:204750
HP:0000119	Abnormality of the genitourinary system	166785	MMAA	OMIM:251100
HP:0000119	Abnormality of the genitourinary system	79944	L2HGDH	OMIM:236792
HP:0000119	Abnormality of the genitourinary system	10165	SLC25A13	ORPHA:247598
HP:0000119	Abnormality of the genitourinary system	2203	FBP1	OMIM:229700
HP:0000119	Abnormality of the genitourinary system	2203	FBP1	ORPHA:348
HP:0000119	Abnormality of the genitourinary system	2710	GK	OMIM:307030
HP:0000119	Abnormality of the genitourinary system	1027	CDKN1B	ORPHA:652
HP:0000119	Abnormality of the genitourinary system	1026	CDKN1A	ORPHA:652
HP:0000119	Abnormality of the genitourinary system	1030	CDKN2B	ORPHA:652
HP:0000119	Abnormality of the genitourinary system	1031	CDKN2C	ORPHA:652
HP:0000119	Abnormality of the genitourinary system	367	AR	ORPHA:90797
HP:0000119	Abnormality of the genitourinary system	6253	RTN2	ORPHA:100993
HP:0000119	Abnormality of the genitourinary system	51271	UBAP1	ORPHA:100993
HP:0000119	Abnormality of the genitourinary system	54832	VPS13C	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	11315	PARK7	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	7345	UCHL1	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	27429	HTRA2	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	120892	LRRK2	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	9829	DNAJC6	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	6622	SNCA	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	5420	PODXL	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	65018	PINK1	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	8867	SYNJ1	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	5071	PRKN	ORPHA:2828
HP:0000119	Abnormality of the genitourinary system	215	ABCD1	ORPHA:139399
HP:0000119	Abnormality of the genitourinary system	10046	MAMLD1	ORPHA:456328
HP:0000119	Abnormality of the genitourinary system	4534	MTM1	ORPHA:456328
HP:0000119	Abnormality of the genitourinary system	7390	UROS	OMIM:263700
HP:0000119	Abnormality of the genitourinary system	7389	UROD	ORPHA:95159
HP:0000119	Abnormality of the genitourinary system	286410	ATP11C	OMIM:301015
HP:0000119	Abnormality of the genitourinary system	5837	PYGM	OMIM:232600
HP:0000119	Abnormality of the genitourinary system	5837	PYGM	ORPHA:368
HP:0000119	Abnormality of the genitourinary system	1371	CPOX	ORPHA:79273
HP:0000119	Abnormality of the genitourinary system	6718	AKR1D1	ORPHA:79303
HP:0000119	Abnormality of the genitourinary system	210	ALAD	ORPHA:100924
HP:0000119	Abnormality of the genitourinary system	8291	DYSF	ORPHA:268
HP:0000119	Abnormality of the genitourinary system	4683	NBN	ORPHA:647
HP:0000119	Abnormality of the genitourinary system	55612	FERMT1	ORPHA:2908
HP:0000119	Abnormality of the genitourinary system	23111	SPART	ORPHA:101000
HP:0000119	Abnormality of the genitourinary system	146206	CARMIL2	OMIM:618131
HP:0000119	Abnormality of the genitourinary system	788	SLC25A20	ORPHA:159
HP:0000119	Abnormality of the genitourinary system	894	CCND2	ORPHA:83473
HP:0000119	Abnormality of the genitourinary system	5296	PIK3R2	ORPHA:83473
HP:0000119	Abnormality of the genitourinary system	10000	AKT3	ORPHA:83473
HP:0000119	Abnormality of the genitourinary system	51322	WAC	ORPHA:466950
HP:0000119	Abnormality of the genitourinary system	7484	WNT9B	ORPHA:1848
HP:0000119	Abnormality of the genitourinary system	1794	DOCK2	OMIM:616433
HP:0000119	Abnormality of the genitourinary system	5371	PML	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	5914	RARA	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	359948	IRF2BP2	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	81608	FIP1L1	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	64859	NABP1	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	6777	STAT5B	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	4926	NUMA1	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	7704	ZBTB16	ORPHA:520
HP:0000119	Abnormality of the genitourinary system	11234	HPS5	OMIM:614074
HP:0000119	Abnormality of the genitourinary system	2153	F5	ORPHA:326
HP:0000119	Abnormality of the genitourinary system	5378	PMS1	ORPHA:144
HP:0000119	Abnormality of the genitourinary system	80326	WNT10A	ORPHA:50944
HP:0000119	Abnormality of the genitourinary system	2130	EWSR1	ORPHA:83469
HP:0000119	Abnormality of the genitourinary system	65998	ZFTA	ORPHA:251636
HP:0000119	Abnormality of the genitourinary system	5970	RELA	ORPHA:251636
HP:0000119	Abnormality of the genitourinary system	3418	IDH2	ORPHA:163634
HP:0000119	Abnormality of the genitourinary system	3417	IDH1	ORPHA:163634
HP:0000119	Abnormality of the genitourinary system	4978	OPCML	OMIM:167000
HP:0000119	Abnormality of the genitourinary system	79827	CLMP	ORPHA:2301
HP:0000119	Abnormality of the genitourinary system	3662	IRF4	ORPHA:3452
HP:0000119	Abnormality of the genitourinary system	1281	COL3A1	OMIM:130050
HP:0000119	Abnormality of the genitourinary system	1281	COL3A1	ORPHA:286
HP:0000119	Abnormality of the genitourinary system	7046	TGFBR1	ORPHA:60030
HP:0000119	Abnormality of the genitourinary system	10526	IPO8	ORPHA:60030
HP:0000119	Abnormality of the genitourinary system	7048	TGFBR2	ORPHA:60030
HP:0000119	Abnormality of the genitourinary system	4693	NDP	ORPHA:649
HP:0000119	Abnormality of the genitourinary system	54894	RNF43	ORPHA:157798
HP:0000119	Abnormality of the genitourinary system	11200	CHEK2	ORPHA:524
HP:0000119	Abnormality of the genitourinary system	7132	TNFRSF1A	ORPHA:32960
HP:0000119	Abnormality of the genitourinary system	64131	XYLT1	OMIM:264800
HP:0000119	Abnormality of the genitourinary system	64132	XYLT2	OMIM:264800
HP:0000119	Abnormality of the genitourinary system	7454	WAS	ORPHA:906
HP:0000119	Abnormality of the genitourinary system	7456	WIPF1	ORPHA:906
HP:0000119	Abnormality of the genitourinary system	2244	FGB	ORPHA:98880
HP:0000119	Abnormality of the genitourinary system	2266	FGG	ORPHA:98880
HP:0000119	Abnormality of the genitourinary system	3674	ITGA2B	ORPHA:849
HP:0000119	Abnormality of the genitourinary system	3690	ITGB3	ORPHA:849
HP:0000119	Abnormality of the genitourinary system	1629	DBT	OMIM:248600
HP:0000119	Abnormality of the genitourinary system	593	BCKDHA	OMIM:248600
HP:0000119	Abnormality of the genitourinary system	594	BCKDHB	OMIM:248600
HP:0000119	Abnormality of the genitourinary system	3553	IL1B	OMIM:613659
HP:0000119	Abnormality of the genitourinary system	4595	MUTYH	OMIM:613659
HP:0000119	Abnormality of the genitourinary system	3557	IL1RN	OMIM:613659
HP:0000119	Abnormality of the genitourinary system	3659	IRF1	OMIM:613659
HP:0000119	Abnormality of the genitourinary system	2064	ERBB2	OMIM:613659
HP:0000119	Abnormality of the genitourinary system	3875	KRT18	OMIM:215600
HP:0000119	Abnormality of the genitourinary system	22934	RPIA	OMIM:608611
HP:0000119	Abnormality of the genitourinary system	2937	GSS	OMIM:266130
HP:0000119	Abnormality of the genitourinary system	2937	GSS	OMIM:231900
HP:0000119	Abnormality of the genitourinary system	35	ACADS	ORPHA:26792
HP:0000119	Abnormality of the genitourinary system	10020	GNE	OMIM:269921
HP:0000119	Abnormality of the genitourinary system	7915	ALDH5A1	OMIM:271980
HP:0000119	Abnormality of the genitourinary system	8671	SLC4A4	OMIM:604278
HP:0034504	Septate gallbladder	145173	B3GLCT	OMIM:261540
HP:0034504	Septate gallbladder	6309	SC5D	OMIM:607330
HP:0008660	Renotubular dysgenesis	183	AGT	OMIM:267430
HP:0008660	Renotubular dysgenesis	5972	REN	OMIM:267430
HP:0008660	Renotubular dysgenesis	185	AGTR1	OMIM:267430
HP:0008660	Renotubular dysgenesis	1636	ACE	OMIM:267430
HP:0008661	Urethral stenosis	54453	RIN2	OMIM:613075
HP:0008661	Urethral stenosis	26277	TINF2	OMIM:613990
HP:0008661	Urethral stenosis	26277	TINF2	ORPHA:1775
HP:0008661	Urethral stenosis	80169	CTC1	ORPHA:1775
HP:0008661	Urethral stenosis	55651	NHP2	ORPHA:1775
HP:0008661	Urethral stenosis	79650	USB1	ORPHA:1775
HP:0008661	Urethral stenosis	55135	WRAP53	ORPHA:1775
HP:0008661	Urethral stenosis	51750	RTEL1	ORPHA:1775
HP:0008661	Urethral stenosis	4869	NPM1	ORPHA:1775
HP:0008661	Urethral stenosis	7012	TERC	ORPHA:1775
HP:0008661	Urethral stenosis	55505	NOP10	ORPHA:1775
HP:0008661	Urethral stenosis	5073	PARN	ORPHA:1775
HP:0008661	Urethral stenosis	7015	TERT	ORPHA:1775
HP:0008661	Urethral stenosis	1736	DKC1	ORPHA:1775
HP:0008661	Urethral stenosis	1736	DKC1	OMIM:305000
HP:0008661	Urethral stenosis	7298	TYMS	ORPHA:1775
HP:0008661	Urethral stenosis	3691	ITGB4	OMIM:619816
HP:0008661	Urethral stenosis	55612	FERMT1	OMIM:173650
HP:0008661	Urethral stenosis	6804	STX1A	ORPHA:904
HP:0008661	Urethral stenosis	7461	CLIP2	ORPHA:904
HP:0008661	Urethral stenosis	84277	DNAJC30	ORPHA:904
HP:0008661	Urethral stenosis	8468	FKBP6	ORPHA:904
HP:0008661	Urethral stenosis	5982	RFC2	ORPHA:904
HP:0008661	Urethral stenosis	2969	GTF2I	ORPHA:904
HP:0008661	Urethral stenosis	3984	LIMK1	ORPHA:904
HP:0008661	Urethral stenosis	9569	GTF2IRD1	ORPHA:904
HP:0008661	Urethral stenosis	155382	VPS37D	ORPHA:904
HP:0008661	Urethral stenosis	155368	METTL27	ORPHA:904
HP:0008661	Urethral stenosis	114049	BUD23	ORPHA:904
HP:0008661	Urethral stenosis	7458	EIF4H	ORPHA:904
HP:0008661	Urethral stenosis	84163	GTF2IRD2	ORPHA:904
HP:0008661	Urethral stenosis	9275	BCL7B	ORPHA:904
HP:0008661	Urethral stenosis	26608	TBL2	ORPHA:904
HP:0008661	Urethral stenosis	653361	NCF1	ORPHA:904
HP:0008661	Urethral stenosis	135886	TMEM270	ORPHA:904
HP:0008661	Urethral stenosis	51085	MLXIPL	ORPHA:904
HP:0008661	Urethral stenosis	51085	MLXIPL	OMIM:194050
HP:0008661	Urethral stenosis	9031	BAZ1B	ORPHA:904
HP:0008661	Urethral stenosis	2006	ELN	ORPHA:904
HP:0008661	Urethral stenosis	2006	ELN	OMIM:194050
HP:0008661	Urethral stenosis	54796	BNC2	OMIM:618612
HP:0008661	Urethral stenosis	54796	BNC2	ORPHA:93110
HP:0008661	Urethral stenosis	2316	FLNA	ORPHA:1826
HP:0008661	Urethral stenosis	6885	MAP3K7	ORPHA:1826
HP:0008661	Urethral stenosis	6899	TBX1	ORPHA:1727
HP:0008661	Urethral stenosis	8626	TP63	OMIM:604292
HP:0008661	Urethral stenosis	3655	ITGA6	ORPHA:79403
HP:0008661	Urethral stenosis	3909	LAMA3	ORPHA:79404
HP:0008661	Urethral stenosis	3918	LAMC2	ORPHA:79404
HP:0008661	Urethral stenosis	3914	LAMB3	ORPHA:79404
HP:0008661	Urethral stenosis	4312	MMP1	ORPHA:79408
HP:0008661	Urethral stenosis	1294	COL7A1	ORPHA:79408
HP:0008661	Urethral stenosis	1294	COL7A1	ORPHA:79409
HP:0008661	Urethral stenosis	5422	POLA1	OMIM:301220
HP:0008661	Urethral stenosis	5317	PKP1	ORPHA:158668
HP:0008661	Urethral stenosis	7750	ZMYM2	OMIM:619522
HP:0008661	Urethral stenosis	2324	FLT4	OMIM:153100
HP:0008661	Urethral stenosis	8318	CDC45	OMIM:617063
HP:0008661	Urethral stenosis	5339	PLEC	OMIM:226670
HP:0008661	Urethral stenosis	8195	MKKS	ORPHA:2473
HP:0008661	Urethral stenosis	81857	MED25	ORPHA:464738
HP:0008661	Urethral stenosis	25942	SIN3A	OMIM:613406
HP:0008661	Urethral stenosis	161742	SPRED1	ORPHA:137605
HP:0008661	Urethral stenosis	5792	PTPRF	OMIM:616001
HP:0008683	Enlarged labia minora	23522	KAT6B	OMIM:606170
HP:0008683	Enlarged labia minora	157570	ESCO2	OMIM:268300
HP:0008665	Clitoral hypertrophy	3643	INSR	OMIM:262190
HP:0008665	Clitoral hypertrophy	3643	INSR	ORPHA:508
HP:0008665	Clitoral hypertrophy	3643	INSR	OMIM:246200
HP:0008665	Clitoral hypertrophy	3643	INSR	ORPHA:769
HP:0008665	Clitoral hypertrophy	5447	POR	OMIM:201750
HP:0008665	Clitoral hypertrophy	1349	COX7B	OMIM:309801
HP:0008665	Clitoral hypertrophy	1349	COX7B	ORPHA:2556
HP:0008665	Clitoral hypertrophy	3052	HCCS	OMIM:309801
HP:0008665	Clitoral hypertrophy	3052	HCCS	ORPHA:2556
HP:0008665	Clitoral hypertrophy	54539	NDUFB11	OMIM:309801
HP:0008665	Clitoral hypertrophy	54539	NDUFB11	ORPHA:2556
HP:0008665	Clitoral hypertrophy	26580	BSCL2	OMIM:269700
HP:0008665	Clitoral hypertrophy	26580	BSCL2	ORPHA:528
HP:0008665	Clitoral hypertrophy	471	ATIC	ORPHA:250977
HP:0008665	Clitoral hypertrophy	471	ATIC	OMIM:608688
HP:0008665	Clitoral hypertrophy	92002	CCNQ	OMIM:300707
HP:0008665	Clitoral hypertrophy	92002	CCNQ	ORPHA:140952
HP:0008665	Clitoral hypertrophy	4659	PPP1R12A	OMIM:618820
HP:0008665	Clitoral hypertrophy	5828	PEX2	OMIM:614866
HP:0008665	Clitoral hypertrophy	5828	PEX2	ORPHA:912
HP:0008665	Clitoral hypertrophy	81857	MED25	OMIM:616449
HP:0008665	Clitoral hypertrophy	2516	NR5A1	OMIM:612964
HP:0008665	Clitoral hypertrophy	2516	NR5A1	OMIM:612965
HP:0008665	Clitoral hypertrophy	2516	NR5A1	OMIM:617480
HP:0008665	Clitoral hypertrophy	2516	NR5A1	ORPHA:251510
HP:0008665	Clitoral hypertrophy	5830	PEX5	OMIM:214110
HP:0008665	Clitoral hypertrophy	5830	PEX5	ORPHA:912
HP:0008665	Clitoral hypertrophy	157570	ESCO2	ORPHA:3103
HP:0008665	Clitoral hypertrophy	157570	ESCO2	OMIM:268300
HP:0008665	Clitoral hypertrophy	80144	FRAS1	OMIM:219000
HP:0008665	Clitoral hypertrophy	6736	SRY	OMIM:400045
HP:0008665	Clitoral hypertrophy	6736	SRY	ORPHA:251510
HP:0008665	Clitoral hypertrophy	197131	UBR1	OMIM:243800
HP:0008665	Clitoral hypertrophy	2571	GAD1	OMIM:619124
HP:0008665	Clitoral hypertrophy	8318	CDC45	OMIM:617063
HP:0008665	Clitoral hypertrophy	8318	CDC45	ORPHA:2554
HP:0008665	Clitoral hypertrophy	89910	UBE3B	OMIM:244450
HP:0008665	Clitoral hypertrophy	89910	UBE3B	ORPHA:2707
HP:0008665	Clitoral hypertrophy	2232	FDXR	ORPHA:543470
HP:0008665	Clitoral hypertrophy	1584	CYP11B1	OMIM:202010
HP:0008665	Clitoral hypertrophy	1584	CYP11B1	ORPHA:90795
HP:0008665	Clitoral hypertrophy	23522	KAT6B	ORPHA:85201
HP:0008665	Clitoral hypertrophy	23522	KAT6B	OMIM:606170
HP:0008665	Clitoral hypertrophy	2263	FGFR2	OMIM:614592
HP:0008665	Clitoral hypertrophy	2263	FGFR2	ORPHA:313855
HP:0008665	Clitoral hypertrophy	10293	TRAIP	OMIM:616777
HP:0008665	Clitoral hypertrophy	367	AR	ORPHA:90797
HP:0008665	Clitoral hypertrophy	1717	DHCR7	ORPHA:818
HP:0008665	Clitoral hypertrophy	22995	CEP152	OMIM:613823
HP:0008665	Clitoral hypertrophy	10225	CD96	OMIM:211750
HP:0008665	Clitoral hypertrophy	3284	HSD3B2	ORPHA:90791
HP:0008665	Clitoral hypertrophy	5189	PEX1	OMIM:214100
HP:0008665	Clitoral hypertrophy	5189	PEX1	ORPHA:912
HP:0008665	Clitoral hypertrophy	57492	ARID1B	OMIM:135900
HP:0008665	Clitoral hypertrophy	4998	ORC1	OMIM:224690
HP:0008665	Clitoral hypertrophy	4998	ORC1	ORPHA:2554
HP:0008665	Clitoral hypertrophy	1583	CYP11A1	ORPHA:168558
HP:0008665	Clitoral hypertrophy	1583	CYP11A1	ORPHA:289548
HP:0008665	Clitoral hypertrophy	284654	RSPO1	OMIM:610644
HP:0008665	Clitoral hypertrophy	5468	PPARG	ORPHA:528
HP:0008665	Clitoral hypertrophy	10555	AGPAT2	ORPHA:528
HP:0008665	Clitoral hypertrophy	10555	AGPAT2	OMIM:608594
HP:0008665	Clitoral hypertrophy	284119	CAVIN1	ORPHA:528
HP:0008665	Clitoral hypertrophy	2353	FOS	ORPHA:528
HP:0008665	Clitoral hypertrophy	857	CAV1	ORPHA:528
HP:0008665	Clitoral hypertrophy	81620	CDT1	ORPHA:2554
HP:0008665	Clitoral hypertrophy	5000	ORC4	ORPHA:2554
HP:0008665	Clitoral hypertrophy	5000	ORC4	OMIM:613800
HP:0008665	Clitoral hypertrophy	23594	ORC6	ORPHA:2554
HP:0008665	Clitoral hypertrophy	23594	ORC6	OMIM:613803
HP:0008665	Clitoral hypertrophy	990	CDC6	ORPHA:2554
HP:0008665	Clitoral hypertrophy	51053	GMNN	ORPHA:2554
HP:0008665	Clitoral hypertrophy	114034	TOE1	ORPHA:284339
HP:0008665	Clitoral hypertrophy	9562	MINPP1	ORPHA:284339
HP:0008665	Clitoral hypertrophy	9896	FIG4	ORPHA:3472
HP:0008665	Clitoral hypertrophy	55697	VAC14	ORPHA:3472
HP:0008665	Clitoral hypertrophy	545	ATR	OMIM:210600
HP:0008665	Clitoral hypertrophy	4214	MAP3K1	OMIM:613762
HP:0008665	Clitoral hypertrophy	4214	MAP3K1	ORPHA:251510
HP:0008665	Clitoral hypertrophy	6662	SOX9	ORPHA:251510
HP:0008665	Clitoral hypertrophy	6845	VAMP7	ORPHA:251510
HP:0008665	Clitoral hypertrophy	51741	WWOX	ORPHA:251510
HP:0008665	Clitoral hypertrophy	7490	WT1	ORPHA:251510
HP:0008665	Clitoral hypertrophy	58524	DMRT3	ORPHA:251510
HP:0008665	Clitoral hypertrophy	57647	DHX37	ORPHA:251510
HP:0008665	Clitoral hypertrophy	23414	ZFPM2	ORPHA:251510
HP:0008665	Clitoral hypertrophy	190	NR0B1	ORPHA:251510
HP:0008665	Clitoral hypertrophy	2626	GATA4	ORPHA:251510
HP:0008665	Clitoral hypertrophy	55670	PEX26	ORPHA:912
HP:0008665	Clitoral hypertrophy	5824	PEX19	ORPHA:912
HP:0008665	Clitoral hypertrophy	8504	PEX3	ORPHA:912
HP:0008665	Clitoral hypertrophy	8799	PEX11B	ORPHA:912
HP:0008665	Clitoral hypertrophy	9409	PEX16	ORPHA:912
HP:0008665	Clitoral hypertrophy	5190	PEX6	ORPHA:912
HP:0008665	Clitoral hypertrophy	5193	PEX12	ORPHA:912
HP:0008665	Clitoral hypertrophy	5194	PEX13	ORPHA:912
HP:0008665	Clitoral hypertrophy	5195	PEX14	ORPHA:912
HP:0008665	Clitoral hypertrophy	5192	PEX10	ORPHA:912
HP:0008665	Clitoral hypertrophy	6888	TALDO1	OMIM:606003
HP:0008668	Gonadal dysgenesis, male	50846	DHH	OMIM:233420
HP:0008669	Abnormal spermatogenesis	1770	DNAH9	OMIM:618300
HP:0008669	Abnormal spermatogenesis	55240	STEAP3	OMIM:615234
HP:0008669	Abnormal spermatogenesis	55240	STEAP3	ORPHA:300298
HP:0008669	Abnormal spermatogenesis	367	AR	OMIM:312300
HP:0008669	Abnormal spermatogenesis	367	AR	ORPHA:90797
HP:0008669	Abnormal spermatogenesis	84515	MCM8	OMIM:612885
HP:0008669	Abnormal spermatogenesis	148738	HJV	OMIM:602390
HP:0008669	Abnormal spermatogenesis	286	ANK1	ORPHA:251066
HP:0008669	Abnormal spermatogenesis	6736	SRY	OMIM:400045
HP:0008669	Abnormal spermatogenesis	6736	SRY	ORPHA:1772
HP:0008669	Abnormal spermatogenesis	6736	SRY	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	55315	SLC29A3	OMIM:602782
HP:0008669	Abnormal spermatogenesis	55315	SLC29A3	ORPHA:168569
HP:0008669	Abnormal spermatogenesis	317761	C14orf39	OMIM:619202
HP:0008669	Abnormal spermatogenesis	3284	HSD3B2	ORPHA:90791
HP:0008669	Abnormal spermatogenesis	4952	OCRL	ORPHA:534
HP:0008669	Abnormal spermatogenesis	6794	STK11	OMIM:273300
HP:0008669	Abnormal spermatogenesis	8915	BCL10	OMIM:273300
HP:0008669	Abnormal spermatogenesis	3815	KIT	OMIM:273300
HP:0008669	Abnormal spermatogenesis	2261	FGFR3	OMIM:273300
HP:0008669	Abnormal spermatogenesis	2629	GBA1	ORPHA:2072
HP:0008669	Abnormal spermatogenesis	79184	BRCC3	ORPHA:280679
HP:0008669	Abnormal spermatogenesis	672	BRCA1	ORPHA:84
HP:0008669	Abnormal spermatogenesis	10459	MAD2L2	ORPHA:84
HP:0008669	Abnormal spermatogenesis	29089	UBE2T	ORPHA:84
HP:0008669	Abnormal spermatogenesis	675	BRCA2	ORPHA:84
HP:0008669	Abnormal spermatogenesis	55120	FANCL	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2177	FANCD2	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2175	FANCA	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2187	FANCB	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2176	FANCC	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2178	FANCE	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2188	FANCF	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2189	FANCG	ORPHA:84
HP:0008669	Abnormal spermatogenesis	5888	RAD51	ORPHA:84
HP:0008669	Abnormal spermatogenesis	5889	RAD51C	ORPHA:84
HP:0008669	Abnormal spermatogenesis	55159	RFWD3	ORPHA:84
HP:0008669	Abnormal spermatogenesis	83990	BRIP1	ORPHA:84
HP:0008669	Abnormal spermatogenesis	79728	PALB2	ORPHA:84
HP:0008669	Abnormal spermatogenesis	84464	SLX4	ORPHA:84
HP:0008669	Abnormal spermatogenesis	2072	ERCC4	ORPHA:84
HP:0008669	Abnormal spermatogenesis	55215	FANCI	ORPHA:84
HP:0008669	Abnormal spermatogenesis	56246	MRAP	ORPHA:361
HP:0008669	Abnormal spermatogenesis	6770	STAR	ORPHA:361
HP:0008669	Abnormal spermatogenesis	4158	MC2R	ORPHA:361
HP:0008669	Abnormal spermatogenesis	23530	NNT	ORPHA:361
HP:0008669	Abnormal spermatogenesis	10587	TXNRD2	ORPHA:361
HP:0008669	Abnormal spermatogenesis	3730	ANOS1	OMIM:308700
HP:0008669	Abnormal spermatogenesis	93953	GCNA	OMIM:301077
HP:0008669	Abnormal spermatogenesis	6662	SOX9	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	6845	VAMP7	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	51741	WWOX	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	4214	MAP3K1	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	7490	WT1	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	58524	DMRT3	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	57647	DHX37	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	23414	ZFPM2	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	2626	GATA4	ORPHA:251510
HP:0008669	Abnormal spermatogenesis	10371	SEMA3A	OMIM:614897
HP:0008669	Abnormal spermatogenesis	9082	XKRY	OMIM:415000
HP:0008669	Abnormal spermatogenesis	8284	KDM5D	OMIM:415000
HP:0008669	Abnormal spermatogenesis	442862	PRY2	OMIM:415000
HP:0008669	Abnormal spermatogenesis	9081	PRY	OMIM:415000
HP:0008669	Abnormal spermatogenesis	140032	RPS4Y2	OMIM:415000
HP:0008669	Abnormal spermatogenesis	9426	CDY2A	OMIM:415000
HP:0008669	Abnormal spermatogenesis	9083	BPY2	OMIM:415000
HP:0008669	Abnormal spermatogenesis	86614	HSFY1	OMIM:415000
HP:0008669	Abnormal spermatogenesis	9084	VCY	OMIM:415000
HP:0008669	Abnormal spermatogenesis	9085	CDY1	OMIM:415000
HP:0008669	Abnormal spermatogenesis	6342	SCP2	OMIM:613724
HP:0008669	Abnormal spermatogenesis	3077	HFE	OMIM:235200
HP:0008669	Abnormal spermatogenesis	650	BMP2	OMIM:235200
HP:0008669	Abnormal spermatogenesis	10149	ADGRG2	ORPHA:48
HP:0008669	Abnormal spermatogenesis	7840	ALMS1	ORPHA:64
HP:0008669	Abnormal spermatogenesis	286151	FBXO43	OMIM:619696
HP:0008669	Abnormal spermatogenesis	255101	CFAP65	OMIM:618664
HP:0008669	Abnormal spermatogenesis	8632	DNAH17	OMIM:618643
HP:0008669	Abnormal spermatogenesis	140732	SUN5	ORPHA:529970
HP:0008669	Abnormal spermatogenesis	83449	PMFBP1	ORPHA:529970
HP:0008669	Abnormal spermatogenesis	89876	CFAP91	OMIM:619177
HP:0008669	Abnormal spermatogenesis	124404	SEPTIN12	OMIM:614822
HP:0008669	Abnormal spermatogenesis	144132	DNHD1	OMIM:619712
HP:0008669	Abnormal spermatogenesis	196385	DNAH10	OMIM:619515
HP:0008669	Abnormal spermatogenesis	3973	LHCGR	ORPHA:3000
HP:0008669	Abnormal spermatogenesis	8468	FKBP6	OMIM:620103
HP:0008669	Abnormal spermatogenesis	92749	DRC1	OMIM:620222
HP:0008669	Abnormal spermatogenesis	2908	NR3C1	ORPHA:786
HP:0008669	Abnormal spermatogenesis	5447	POR	ORPHA:95699
HP:0008669	Abnormal spermatogenesis	641	BLM	ORPHA:125
HP:0008669	Abnormal spermatogenesis	286464	CFAP47	OMIM:301059
HP:0008669	Abnormal spermatogenesis	7555	CNBP	OMIM:602668
HP:0008669	Abnormal spermatogenesis	190	NR0B1	OMIM:300200
HP:0008669	Abnormal spermatogenesis	22873	DZIP1	OMIM:619102
HP:0008669	Abnormal spermatogenesis	2488	FSHB	ORPHA:52901
HP:0008669	Abnormal spermatogenesis	84071	ARMC2	OMIM:618433
HP:0008669	Abnormal spermatogenesis	118491	CFAP70	OMIM:618670
HP:0008669	Abnormal spermatogenesis	80173	IFT74	OMIM:619585
HP:0008669	Abnormal spermatogenesis	5161	PDHA2	OMIM:619828
HP:0008669	Abnormal spermatogenesis	140801	RPL10L	OMIM:619689
HP:0008669	Abnormal spermatogenesis	84984	CEP19	OMIM:615703
HP:0008669	Abnormal spermatogenesis	84168	ANTXR1	ORPHA:2067
HP:0008669	Abnormal spermatogenesis	117155	CATSPER2	OMIM:612997
HP:0008669	Abnormal spermatogenesis	161497	STRC	OMIM:612997
HP:0008669	Abnormal spermatogenesis	117144	CATSPER1	OMIM:612997
HP:0008669	Abnormal spermatogenesis	25886	POC1A	OMIM:614813
HP:0008669	Abnormal spermatogenesis	5573	PRKAR1A	ORPHA:1359
HP:0008669	Abnormal spermatogenesis	50940	PDE11A	ORPHA:1359
HP:0008669	Abnormal spermatogenesis	157855	KCNU1	OMIM:620196
HP:0008669	Abnormal spermatogenesis	472	ATM	OMIM:208900
HP:0008669	Abnormal spermatogenesis	80067	DCAF17	ORPHA:3464
HP:0008669	Abnormal spermatogenesis	3972	LHB	OMIM:228300
HP:0008669	Abnormal spermatogenesis	24145	PANX1	ORPHA:488191
HP:0008669	Abnormal spermatogenesis	494551	WEE2	ORPHA:488191
HP:0008669	Abnormal spermatogenesis	197135	PATL2	ORPHA:488191
HP:0008669	Abnormal spermatogenesis	347688	TUBB8	ORPHA:488191
HP:0008669	Abnormal spermatogenesis	340719	NANOS1	ORPHA:399808
HP:0008669	Abnormal spermatogenesis	340719	NANOS1	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	2260	FGFR1	ORPHA:432
HP:0008669	Abnormal spermatogenesis	81848	SPRY4	ORPHA:432
HP:0008669	Abnormal spermatogenesis	128674	PROKR2	ORPHA:432
HP:0008669	Abnormal spermatogenesis	2253	FGF8	ORPHA:432
HP:0008669	Abnormal spermatogenesis	60675	PROK2	ORPHA:432
HP:0008669	Abnormal spermatogenesis	55636	CHD7	ORPHA:432
HP:0008669	Abnormal spermatogenesis	6870	TACR3	ORPHA:432
HP:0008669	Abnormal spermatogenesis	1848	DUSP6	ORPHA:432
HP:0008669	Abnormal spermatogenesis	26012	NSMF	ORPHA:432
HP:0008669	Abnormal spermatogenesis	55717	WDR11	ORPHA:432
HP:0008669	Abnormal spermatogenesis	9394	HS6ST1	ORPHA:432
HP:0008669	Abnormal spermatogenesis	2796	GNRH1	ORPHA:432
HP:0008669	Abnormal spermatogenesis	2798	GNRHR	ORPHA:432
HP:0008669	Abnormal spermatogenesis	84634	KISS1R	ORPHA:432
HP:0008669	Abnormal spermatogenesis	6866	TAC3	ORPHA:432
HP:0008669	Abnormal spermatogenesis	8822	FGF17	ORPHA:432
HP:0008669	Abnormal spermatogenesis	3814	KISS1	ORPHA:432
HP:0008669	Abnormal spermatogenesis	6691	SPINK2	OMIM:618091
HP:0008669	Abnormal spermatogenesis	402381	SOHLH1	OMIM:618115
HP:0008669	Abnormal spermatogenesis	402381	SOHLH1	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	125150	ZSWIM7	OMIM:619831
HP:0008669	Abnormal spermatogenesis	57697	FANCM	OMIM:618086
HP:0008669	Abnormal spermatogenesis	57697	FANCM	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	10734	STAG3	OMIM:619672
HP:0008669	Abnormal spermatogenesis	285498	RNF212	OMIM:619673
HP:0008669	Abnormal spermatogenesis	158401	SHOC1	OMIM:619949
HP:0008669	Abnormal spermatogenesis	6875	TAF4B	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	56155	TEX14	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	91057	CCDC34	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	317719	KLHL10	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	1080	CFTR	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	50511	SYCP3	ORPHA:399805
HP:0008669	Abnormal spermatogenesis	4438	MSH4	OMIM:108420
HP:0008669	Abnormal spermatogenesis	7258	TSPY1	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	57055	DAZ2	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	57135	DAZ4	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	8287	USP9Y	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	5940	RBMY1A1	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	57054	DAZ3	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	8653	DDX3Y	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	1617	DAZ1	ORPHA:1646
HP:0008669	Abnormal spermatogenesis	9075	CLDN2	OMIM:301060
HP:0008669	Abnormal spermatogenesis	10388	SYCP2	OMIM:258150
HP:0008669	Abnormal spermatogenesis	375307	CATIP	OMIM:619379
HP:0008669	Abnormal spermatogenesis	254528	MEIOB	OMIM:617706
HP:0008669	Abnormal spermatogenesis	2516	NR5A1	OMIM:613957
HP:0008669	Abnormal spermatogenesis	56154	TEX15	OMIM:617960
HP:0008669	Abnormal spermatogenesis	122402	TDRD9	OMIM:618110
HP:0008669	Abnormal spermatogenesis	154197	PNLDC1	OMIM:619528
HP:0008669	Abnormal spermatogenesis	4439	MSH5	OMIM:619937
HP:0008669	Abnormal spermatogenesis	93426	SYCE1	OMIM:616950
HP:0008669	Abnormal spermatogenesis	145645	TERB2	OMIM:619645
HP:0008669	Abnormal spermatogenesis	283847	TERB1	OMIM:619646
HP:0008669	Abnormal spermatogenesis	130951	M1AP	OMIM:619108
HP:0008669	Abnormal spermatogenesis	54456	MOV10L1	OMIM:619878
HP:0008669	Abnormal spermatogenesis	56159	TEX11	OMIM:309120
HP:0008669	Abnormal spermatogenesis	7516	XRCC2	OMIM:619145
HP:0008669	Abnormal spermatogenesis	84225	ZMYND15	OMIM:615842
HP:0034518	Gingival fragility	715	C1R	OMIM:130080
HP:0034518	Gingival fragility	716	C1S	OMIM:617174
HP:0034517	Pretibial hyperpigmentation	715	C1R	OMIM:130080
HP:0034517	Pretibial hyperpigmentation	716	C1S	OMIM:617174
HP:0008672	Calcium oxalate nephrolithiasis	10861	SLC26A1	OMIM:167030
HP:0008672	Calcium oxalate nephrolithiasis	26873	OPLAH	OMIM:260005
HP:0008672	Calcium oxalate nephrolithiasis	189	AGXT	OMIM:259900
HP:0008672	Calcium oxalate nephrolithiasis	55811	ADCY10	ORPHA:2197
HP:0008672	Calcium oxalate nephrolithiasis	55811	ADCY10	OMIM:143870
HP:0008672	Calcium oxalate nephrolithiasis	9380	GRHPR	OMIM:260000
HP:0008672	Calcium oxalate nephrolithiasis	51256	TBC1D7	OMIM:248000
HP:0008672	Calcium oxalate nephrolithiasis	112817	HOGA1	OMIM:613616
HP:0008672	Calcium oxalate nephrolithiasis	112817	HOGA1	ORPHA:93600
HP:0008672	Calcium oxalate nephrolithiasis	153201	SLC36A2	OMIM:138500
HP:0008675	Enlarged polycystic ovaries	1528	CYB5A	ORPHA:90796
HP:0008675	Enlarged polycystic ovaries	1586	CYP17A1	ORPHA:90796
HP:0008675	Enlarged polycystic ovaries	2099	ESR1	ORPHA:785
HP:0008675	Enlarged polycystic ovaries	10483	SEC23B	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	5728	PTEN	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	5728	PTEN	ORPHA:744
HP:0008675	Enlarged polycystic ovaries	6390	SDHB	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	6392	SDHD	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	6391	SDHC	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	207	AKT1	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	207	AKT1	ORPHA:744
HP:0008675	Enlarged polycystic ovaries	205717	USF3	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	5290	PIK3CA	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	100144748	KLLN	ORPHA:201
HP:0008675	Enlarged polycystic ovaries	6794	STK11	ORPHA:2869
HP:0008675	Enlarged polycystic ovaries	2492	FSHR	ORPHA:64739
HP:0008675	Enlarged polycystic ovaries	1588	CYP19A1	ORPHA:91
HP:0008675	Enlarged polycystic ovaries	5447	POR	ORPHA:95699
HP:0008676	Congenital megaureter	23556	PIGN	ORPHA:280633
HP:0008676	Congenital megaureter	9096	TBX18	OMIM:143400
HP:0008676	Congenital megaureter	51604	PIGT	ORPHA:369837
HP:0008677	Congenital nephrotic syndrome	112858	TP53RK	OMIM:617730
HP:0008677	Congenital nephrotic syndrome	4868	NPHS1	OMIM:256300
HP:0008678	Renal hypoplasia/aplasia	5290	PIK3CA	OMIM:612918
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	ORPHA:97362
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	ORPHA:1475
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	OMIM:616002
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	OMIM:120330
HP:0008678	Renal hypoplasia/aplasia	5087	PBX1	ORPHA:97362
HP:0008678	Renal hypoplasia/aplasia	5087	PBX1	OMIM:617641
HP:0008678	Renal hypoplasia/aplasia	80144	FRAS1	ORPHA:2052
HP:0008678	Renal hypoplasia/aplasia	80144	FRAS1	OMIM:219000
HP:0008678	Renal hypoplasia/aplasia	54892	NCAPG2	OMIM:618460
HP:0008678	Renal hypoplasia/aplasia	11020	IFT27	OMIM:615996
HP:0008678	Renal hypoplasia/aplasia	1161	ERCC8	ORPHA:90324
HP:0008678	Renal hypoplasia/aplasia	2074	ERCC6	ORPHA:90324
HP:0008678	Renal hypoplasia/aplasia	100151683	RNU4ATAC	OMIM:210710
HP:0008678	Renal hypoplasia/aplasia	4774	NFIA	OMIM:613735
HP:0008678	Renal hypoplasia/aplasia	57167	SALL4	OMIM:607323
HP:0008678	Renal hypoplasia/aplasia	4838	NODAL	OMIM:270100
HP:0008678	Renal hypoplasia/aplasia	64220	STRA6	OMIM:601186
HP:0008678	Renal hypoplasia/aplasia	64220	STRA6	ORPHA:2470
HP:0008678	Renal hypoplasia/aplasia	6299	SALL1	OMIM:107480
HP:0008678	Renal hypoplasia/aplasia	6299	SALL1	ORPHA:857
HP:0008678	Renal hypoplasia/aplasia	55112	DYNC2I1	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57560	IFT80	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57539	WDR35	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57539	WDR35	OMIM:614091
HP:0008678	Renal hypoplasia/aplasia	79659	DYNC2H1	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	89891	DYNC2I2	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	23498	HAAO	OMIM:617660
HP:0008678	Renal hypoplasia/aplasia	55159	RFWD3	OMIM:617784
HP:0008678	Renal hypoplasia/aplasia	8942	KYNU	OMIM:617661
HP:0008678	Renal hypoplasia/aplasia	8882	ZPR1	OMIM:619321
HP:0008678	Renal hypoplasia/aplasia	3313	HSPA9	OMIM:616854
HP:0008678	Renal hypoplasia/aplasia	55215	FANCI	OMIM:609053
HP:0008678	Renal hypoplasia/aplasia	23291	FBXW11	OMIM:618914
HP:0008678	Renal hypoplasia/aplasia	6092	ROBO2	OMIM:610878
HP:0008678	Renal hypoplasia/aplasia	6926	TBX3	ORPHA:3138
HP:0008678	Renal hypoplasia/aplasia	2188	FANCF	OMIM:603467
HP:0008678	Renal hypoplasia/aplasia	84987	COX14	OMIM:619053
HP:0008678	Renal hypoplasia/aplasia	57492	ARID1B	OMIM:135900
HP:0008678	Renal hypoplasia/aplasia	3899	AFF3	OMIM:619297
HP:0008678	Renal hypoplasia/aplasia	54496	PRMT7	OMIM:617157
HP:0008678	Renal hypoplasia/aplasia	54496	PRMT7	ORPHA:464288
HP:0008678	Renal hypoplasia/aplasia	6928	HNF1B	OMIM:137920
HP:0008678	Renal hypoplasia/aplasia	54567	DLL4	OMIM:616589
HP:0008678	Renal hypoplasia/aplasia	1312	COMT	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	221037	JMJD1C	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	2812	GP1BB	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	6239	RREB1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	6899	TBX1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	7290	HIRA	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	9632	SEC24C	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	7353	UFD1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	421	ARVCF	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	91647	ATPAF2	OMIM:604273
HP:0008678	Renal hypoplasia/aplasia	25778	DSTYK	OMIM:610805
HP:0008678	Renal hypoplasia/aplasia	1717	DHCR7	OMIM:270400
HP:0008678	Renal hypoplasia/aplasia	652	BMP4	OMIM:607932
HP:0008678	Renal hypoplasia/aplasia	8091	HMGA2	ORPHA:94063
HP:0008678	Renal hypoplasia/aplasia	23592	LEMD3	ORPHA:94063
HP:0008678	Renal hypoplasia/aplasia	1822	ATN1	OMIM:618494
HP:0008678	Renal hypoplasia/aplasia	5147	PDE6D	OMIM:615665
HP:0008678	Renal hypoplasia/aplasia	55636	CHD7	OMIM:214800
HP:0008678	Renal hypoplasia/aplasia	79633	FAT4	OMIM:615546
HP:0008678	Renal hypoplasia/aplasia	79633	FAT4	ORPHA:314679
HP:0008678	Renal hypoplasia/aplasia	4582	MUC1	OMIM:174000
HP:0008678	Renal hypoplasia/aplasia	8642	DCHS1	OMIM:601390
HP:0008678	Renal hypoplasia/aplasia	8642	DCHS1	ORPHA:314679
HP:0008678	Renal hypoplasia/aplasia	9096	TBX18	OMIM:143400
HP:0008678	Renal hypoplasia/aplasia	5972	REN	OMIM:613092
HP:0008678	Renal hypoplasia/aplasia	8260	NAA10	OMIM:309800
HP:0008678	Renal hypoplasia/aplasia	54880	BCOR	OMIM:309800
HP:0008678	Renal hypoplasia/aplasia	145173	B3GLCT	OMIM:261540
HP:0008678	Renal hypoplasia/aplasia	6804	STX1A	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	7461	CLIP2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	84277	DNAJC30	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	8468	FKBP6	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	5982	RFC2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2969	GTF2I	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	3984	LIMK1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	9569	GTF2IRD1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	155382	VPS37D	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	155368	METTL27	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	114049	BUD23	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	7458	EIF4H	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	84163	GTF2IRD2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	9275	BCL7B	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	26608	TBL2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	653361	NCF1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	135886	TMEM270	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	51085	MLXIPL	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	51085	MLXIPL	OMIM:194050
HP:0008678	Renal hypoplasia/aplasia	9031	BAZ1B	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2006	ELN	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2006	ELN	OMIM:194050
HP:0008678	Renal hypoplasia/aplasia	8364	H4C3	OMIM:619758
HP:0008678	Renal hypoplasia/aplasia	55165	CEP55	OMIM:236500
HP:0008678	Renal hypoplasia/aplasia	10907	TXNL4A	OMIM:608572
HP:0008678	Renal hypoplasia/aplasia	8204	NRIP1	OMIM:618270
HP:0008678	Renal hypoplasia/aplasia	284252	KCTD1	OMIM:181270
HP:0008678	Renal hypoplasia/aplasia	51473	DCDC2	ORPHA:84081
HP:0008678	Renal hypoplasia/aplasia	91147	TMEM67	ORPHA:84081
HP:0008678	Renal hypoplasia/aplasia	182	JAG1	OMIM:118450
HP:0008678	Renal hypoplasia/aplasia	2263	FGFR2	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	2261	FGFR3	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	2255	FGF10	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	51339	DACT1	ORPHA:857
HP:0008678	Renal hypoplasia/aplasia	84919	PPP1R15B	OMIM:616817
HP:0008678	Renal hypoplasia/aplasia	63895	PIEZO2	OMIM:248700
HP:0008678	Renal hypoplasia/aplasia	10084	PQBP1	OMIM:309500
HP:0008678	Renal hypoplasia/aplasia	5915	RARB	ORPHA:2470
HP:0008678	Renal hypoplasia/aplasia	55120	FANCL	OMIM:614083
HP:0008678	Renal hypoplasia/aplasia	153241	CEP120	OMIM:616300
HP:0008678	Renal hypoplasia/aplasia	7518	XRCC4	OMIM:616541
HP:0008678	Renal hypoplasia/aplasia	4193	MDM2	OMIM:618681
HP:0008678	Renal hypoplasia/aplasia	10463	SLC30A9	OMIM:617595
HP:0008678	Renal hypoplasia/aplasia	51360	MBTPS2	ORPHA:85284
HP:0008678	Renal hypoplasia/aplasia	546	ATRX	OMIM:309580
HP:0008678	Renal hypoplasia/aplasia	5885	RAD21	OMIM:611376
HP:0008678	Renal hypoplasia/aplasia	25836	NIPBL	OMIM:122470
HP:0008678	Renal hypoplasia/aplasia	50628	GEMIN4	OMIM:617913
HP:0008678	Renal hypoplasia/aplasia	55005	RMND1	OMIM:614922
HP:0008678	Renal hypoplasia/aplasia	5557	PRIM1	OMIM:620005
HP:0008678	Renal hypoplasia/aplasia	4853	NOTCH2	OMIM:610205
HP:0008678	Renal hypoplasia/aplasia	84100	ARL6	OMIM:600151
HP:0008678	Renal hypoplasia/aplasia	6223	RPS19	OMIM:105650
HP:0008678	Renal hypoplasia/aplasia	8295	TRRAP	OMIM:618454
HP:0008678	Renal hypoplasia/aplasia	9652	SKIC3	ORPHA:84064
HP:0008678	Renal hypoplasia/aplasia	6499	SKIC2	ORPHA:84064
HP:0008678	Renal hypoplasia/aplasia	57728	WDR19	OMIM:614376
HP:0008678	Renal hypoplasia/aplasia	57728	WDR19	OMIM:614377
HP:0008678	Renal hypoplasia/aplasia	4654	MYOD1	OMIM:618975
HP:0008678	Renal hypoplasia/aplasia	27152	INTU	OMIM:617926
HP:0008678	Renal hypoplasia/aplasia	3762	KCNJ5	ORPHA:37553
HP:0008678	Renal hypoplasia/aplasia	3759	KCNJ2	ORPHA:37553
HP:0008678	Renal hypoplasia/aplasia	4038	LRP4	OMIM:212780
HP:0008678	Renal hypoplasia/aplasia	25970	SH2B1	ORPHA:261222
HP:0008678	Renal hypoplasia/aplasia	10806	SDCCAG8	OMIM:615993
HP:0008678	Renal hypoplasia/aplasia	5979	RET	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	7484	WNT9B	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	80000	GREB1L	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	80000	GREB1L	OMIM:617805
HP:0008678	Renal hypoplasia/aplasia	10992	SF3B2	OMIM:164210
HP:0008678	Renal hypoplasia/aplasia	81839	VANGL1	ORPHA:3027
HP:0008678	Renal hypoplasia/aplasia	80199	FUZ	ORPHA:3027
HP:0008678	Renal hypoplasia/aplasia	64324	NSD1	ORPHA:821
HP:0008678	Renal hypoplasia/aplasia	29072	SETD2	ORPHA:821
HP:0008678	Renal hypoplasia/aplasia	10297	APC2	ORPHA:821
HP:0008678	Renal hypoplasia/aplasia	25915	NDUFAF3	ORPHA:70474
HP:0008678	Renal hypoplasia/aplasia	4714	NDUFB8	ORPHA:70474
HP:0008678	Renal hypoplasia/aplasia	4720	NDUFS2	ORPHA:70474
HP:0008678	Renal hypoplasia/aplasia	9997	SCO2	ORPHA:70474
HP:0008678	Renal hypoplasia/aplasia	6834	SURF1	ORPHA:70474
HP:0008678	Renal hypoplasia/aplasia	57465	TBC1D24	OMIM:220500
HP:0008678	Renal hypoplasia/aplasia	7750	ZMYM2	OMIM:619522
HP:0008678	Renal hypoplasia/aplasia	92002	CCNQ	ORPHA:140952
HP:0008678	Renal hypoplasia/aplasia	10847	SRCAP	ORPHA:2044
HP:0008678	Renal hypoplasia/aplasia	79971	WLS	OMIM:619648
HP:0008678	Renal hypoplasia/aplasia	7547	ZIC3	OMIM:306955
HP:0008678	Renal hypoplasia/aplasia	2260	FGFR1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2260	FGFR1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	28514	DLL1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2253	FGF8	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2253	FGF8	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6496	SIX3	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	7050	TGIF1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	6469	SHH	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	51684	SUFU	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	7546	ZIC2	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2619	GAS1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	84976	DISP1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2736	GLI2	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	8928	FOXH1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	5727	PTCH1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	50937	CDON	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	5286	PIK3C2A	OMIM:618440
HP:0008678	Renal hypoplasia/aplasia	7473	WNT3	OMIM:273395
HP:0008678	Renal hypoplasia/aplasia	3239	HOXD13	ORPHA:887
HP:0008678	Renal hypoplasia/aplasia	7020	TFAP2A	OMIM:113620
HP:0008678	Renal hypoplasia/aplasia	7020	TFAP2A	ORPHA:1297
HP:0008678	Renal hypoplasia/aplasia	6135	RPL11	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6138	RPL15	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6229	RPS24	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6125	RPL5	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6204	RPS10	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6224	RPS20	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6165	RPL35A	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	2623	GATA1	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6232	RPS27	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6231	RPS26	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	11224	RPL35	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6160	RPL31	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6218	RPS17	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6201	RPS7	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6155	RPL27	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6210	RPS15A	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	90121	TSR2	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6141	RPL18	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6235	RPS29	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6234	RPS28	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	51816	ADA2	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	54903	MKS1	OMIM:249000
HP:0008678	Renal hypoplasia/aplasia	3640	INSL3	OMIM:219050
HP:0008678	Renal hypoplasia/aplasia	10371	SEMA3A	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	81848	SPRY4	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	23767	FLRT3	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	79625	NDNF	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	389549	FEZF1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	1630	DCC	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	54756	IL17RD	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6663	SOX10	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	285025	CCDC141	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	60675	PROK2	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	1848	DUSP6	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6870	TACR3	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	55717	WDR11	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	9394	HS6ST1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	8820	HESX1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	8822	FGF17	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	26227	PHGDH	OMIM:256520
HP:0008678	Renal hypoplasia/aplasia	5518	PPP2R1A	OMIM:616362
HP:0008678	Renal hypoplasia/aplasia	5518	PPP2R1A	ORPHA:457284
HP:0008678	Renal hypoplasia/aplasia	10262	SF3B4	OMIM:154400
HP:0008678	Renal hypoplasia/aplasia	10262	SF3B4	ORPHA:245
HP:0008678	Renal hypoplasia/aplasia	8294	H4C9	OMIM:619951
HP:0008678	Renal hypoplasia/aplasia	392255	GDF6	OMIM:118100
HP:0008678	Renal hypoplasia/aplasia	2138	EYA1	OMIM:113650
HP:0008678	Renal hypoplasia/aplasia	6495	SIX1	OMIM:113650
HP:0008678	Renal hypoplasia/aplasia	348180	CTU2	OMIM:618142
HP:0008678	Renal hypoplasia/aplasia	1859	DYRK1A	ORPHA:268261
HP:0008678	Renal hypoplasia/aplasia	1859	DYRK1A	ORPHA:464311
HP:0008678	Renal hypoplasia/aplasia	128674	PROKR2	OMIM:244200
HP:0008678	Renal hypoplasia/aplasia	55503	TRPV6	OMIM:618188
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	ORPHA:3109
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	OMIM:158330
HP:0008678	Renal hypoplasia/aplasia	998	CDC42	ORPHA:487796
HP:0008678	Renal hypoplasia/aplasia	998	CDC42	OMIM:616737
HP:0008678	Renal hypoplasia/aplasia	6154	RPL26	OMIM:614900
HP:0008678	Renal hypoplasia/aplasia	5832	ALDH18A1	OMIM:616603
HP:0008678	Renal hypoplasia/aplasia	5832	ALDH18A1	ORPHA:90348
HP:0008678	Renal hypoplasia/aplasia	91801	ALKBH8	OMIM:618504
HP:0008678	Renal hypoplasia/aplasia	54499	TMCO1	OMIM:213980
HP:0008678	Renal hypoplasia/aplasia	25914	RTTN	ORPHA:468631
HP:0008678	Renal hypoplasia/aplasia	8496	PPFIBP1	OMIM:620024
HP:0008678	Renal hypoplasia/aplasia	5293	PIK3CD	ORPHA:221139
HP:0008678	Renal hypoplasia/aplasia	90417	KNSTRN	ORPHA:221139
HP:0008678	Renal hypoplasia/aplasia	5447	POR	ORPHA:95699
HP:0008678	Renal hypoplasia/aplasia	79228	THOC6	ORPHA:363444
HP:0008678	Renal hypoplasia/aplasia	79228	THOC6	OMIM:613680
HP:0008678	Renal hypoplasia/aplasia	6651	SON	OMIM:617140
HP:0008678	Renal hypoplasia/aplasia	6651	SON	ORPHA:500150
HP:0008678	Renal hypoplasia/aplasia	3417	IDH1	ORPHA:99646
HP:0008678	Renal hypoplasia/aplasia	55252	ASXL2	OMIM:617190
HP:0008678	Renal hypoplasia/aplasia	50814	NSDHL	OMIM:308050
HP:0008678	Renal hypoplasia/aplasia	2625	GATA3	ORPHA:2237
HP:0008678	Renal hypoplasia/aplasia	10516	FBLN5	ORPHA:90348
HP:0008678	Renal hypoplasia/aplasia	412	STS	ORPHA:281090
HP:0008678	Renal hypoplasia/aplasia	55788	LMBRD1	ORPHA:79284
HP:0008678	Renal hypoplasia/aplasia	9276	COPB2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	11113	CIT	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	22995	CEP152	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	284403	WDR62	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	55262	TRAPPC14	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	163786	SASS6	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	29920	PYCR2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	84879	MFSD2A	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	4176	MCM7	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	80254	CEP63	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	29081	METTL5	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	23310	NCAPD3	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	55755	CDK5RAP2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	79648	MCPH1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	6491	STIL	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	23141	ANKLE2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	259266	ASPM	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	7109	TRAPPC10	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	1911	PHC1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	6884	TAF13	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	9662	CEP135	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	55835	CENPJ	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	57082	KNL1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	1021	CDK6	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	7148	TNXB	OMIM:606408
HP:0008678	Renal hypoplasia/aplasia	3730	ANOS1	OMIM:308700
HP:0008678	Renal hypoplasia/aplasia	5781	PTPN11	OMIM:151100
HP:0008678	Renal hypoplasia/aplasia	57511	COG6	OMIM:614576
HP:0008678	Renal hypoplasia/aplasia	55012	PPP2R3C	OMIM:618419
HP:0008678	Renal hypoplasia/aplasia	51729	WBP11	OMIM:619227
HP:0008678	Renal hypoplasia/aplasia	2783	GNB2	OMIM:619503
HP:0008678	Renal hypoplasia/aplasia	26057	ANKRD17	OMIM:619504
HP:0008678	Renal hypoplasia/aplasia	5573	PRKAR1A	OMIM:101800
HP:0008678	Renal hypoplasia/aplasia	158326	FREM1	OMIM:608980
HP:0008678	Renal hypoplasia/aplasia	6862	TBXT	OMIM:615709
HP:0008678	Renal hypoplasia/aplasia	27238	GPKOW	ORPHA:2570
HP:0008678	Renal hypoplasia/aplasia	3975	LHX1	ORPHA:261265
HP:0008678	Renal hypoplasia/aplasia	64840	PORCN	ORPHA:2092
HP:0008678	Renal hypoplasia/aplasia	147912	SIX5	ORPHA:107
HP:0008678	Renal hypoplasia/aplasia	1718	DHCR24	ORPHA:35107
HP:0008678	Renal hypoplasia/aplasia	54101	RIPK4	ORPHA:1234
HP:0008678	Renal hypoplasia/aplasia	8085	KMT2D	ORPHA:2322
HP:0008678	Renal hypoplasia/aplasia	7403	KDM6A	ORPHA:2322
HP:0008678	Renal hypoplasia/aplasia	2314	FLII	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	23096	IQSEC2	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	10743	RAI1	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	10522	DEAF1	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	324	APC	ORPHA:3258
HP:0008678	Renal hypoplasia/aplasia	2187	FANCB	ORPHA:3412
HP:0008678	Renal hypoplasia/aplasia	2187	FANCB	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	8195	MKKS	ORPHA:2473
HP:0008678	Renal hypoplasia/aplasia	5075	PAX1	ORPHA:2792
HP:0008678	Renal hypoplasia/aplasia	10225	CD96	ORPHA:1308
HP:0008678	Renal hypoplasia/aplasia	672	BRCA1	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	10459	MAD2L2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	7516	XRCC2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	29089	UBE2T	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	675	BRCA2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2177	FANCD2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2175	FANCA	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2176	FANCC	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2178	FANCE	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2189	FANCG	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	5888	RAD51	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	5889	RAD51C	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	83990	BRIP1	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	57697	FANCM	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	79728	PALB2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	84464	SLX4	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2072	ERCC4	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	26123	TCTN3	ORPHA:2753
HP:0008678	Renal hypoplasia/aplasia	26123	TCTN3	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	10210	TOPORS	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	9851	KIAA0753	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	65250	CPLANE1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	51259	TMEM216	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	8481	OFD1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	317662	FAM149B1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	374654	KIF7	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	5566	PRKACA	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	5567	PRKACB	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	2735	GLI1	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	2121	EVC	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	51626	DYNC2LI1	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	132884	EVC2	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	4763	NF1	ORPHA:363700
HP:0008678	Renal hypoplasia/aplasia	8626	TP63	ORPHA:1896
HP:0008678	Renal hypoplasia/aplasia	9573	GDF3	ORPHA:2345
HP:0008678	Renal hypoplasia/aplasia	4222	MEOX1	ORPHA:2345
HP:0008678	Renal hypoplasia/aplasia	170302	ARX	ORPHA:2508
HP:0008678	Renal hypoplasia/aplasia	23426	GRIP1	OMIM:617667
HP:0008678	Renal hypoplasia/aplasia	26281	FGF20	OMIM:615721
HP:0008678	Renal hypoplasia/aplasia	2737	GLI3	ORPHA:672
HP:0008678	Renal hypoplasia/aplasia	9653	HS2ST1	OMIM:619194
HP:0008678	Renal hypoplasia/aplasia	341640	FREM2	OMIM:617666
HP:0008678	Renal hypoplasia/aplasia	9928	KIF14	OMIM:616258
HP:0008678	Renal hypoplasia/aplasia	9928	KIF14	OMIM:617914
HP:0008678	Renal hypoplasia/aplasia	2674	GFRA1	OMIM:619887
HP:0008678	Renal hypoplasia/aplasia	55191	NADSYN1	OMIM:618845
HP:0008678	Renal hypoplasia/aplasia	8516	ITGA8	OMIM:191830
HP:0008678	Renal hypoplasia/aplasia	5361	PLXNA1	OMIM:619955
HP:0008678	Renal hypoplasia/aplasia	26005	C2CD3	OMIM:615948
HP:0008678	Renal hypoplasia/aplasia	8367	H4C5	OMIM:619950
HP:0008678	Renal hypoplasia/aplasia	4174	MCM5	OMIM:617564
HP:0008678	Renal hypoplasia/aplasia	3265	HRAS	ORPHA:2874
HP:0008678	Renal hypoplasia/aplasia	22827	PUF60	ORPHA:508488
HP:0008678	Renal hypoplasia/aplasia	1063	CENPF	OMIM:243605
HP:0008678	Renal hypoplasia/aplasia	374879	ZNF699	OMIM:619488
HP:0008678	Renal hypoplasia/aplasia	7468	NSD2	OMIM:619695
HP:0000815	Hypergonadotropic hypogonadism	64374	SIL1	OMIM:248800
HP:0000815	Hypergonadotropic hypogonadism	7840	ALMS1	ORPHA:64
HP:0000815	Hypergonadotropic hypogonadism	7840	ALMS1	OMIM:203800
HP:0000815	Hypergonadotropic hypogonadism	54809	SAMD9	OMIM:617053
HP:0000815	Hypergonadotropic hypogonadism	9210	BMP15	OMIM:300510
HP:0000815	Hypergonadotropic hypogonadism	2187	FANCB	OMIM:300514
HP:0000815	Hypergonadotropic hypogonadism	4361	MRE11	ORPHA:251347
HP:0000815	Hypergonadotropic hypogonadism	2592	GALT	OMIM:230400
HP:0000815	Hypergonadotropic hypogonadism	50846	DHH	OMIM:607080
HP:0000815	Hypergonadotropic hypogonadism	23600	AMACR	OMIM:614307
HP:0000815	Hypergonadotropic hypogonadism	6736	SRY	OMIM:400044
HP:0000815	Hypergonadotropic hypogonadism	6736	SRY	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	7490	WT1	ORPHA:347
HP:0000815	Hypergonadotropic hypogonadism	7490	WT1	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	4047	LSS	ORPHA:2850
HP:0000815	Hypergonadotropic hypogonadism	197	AHSG	ORPHA:2850
HP:0000815	Hypergonadotropic hypogonadism	3694	ITGB6	ORPHA:2850
HP:0000815	Hypergonadotropic hypogonadism	3973	LHCGR	OMIM:238320
HP:0000815	Hypergonadotropic hypogonadism	92667	MGME1	ORPHA:352447
HP:0000815	Hypergonadotropic hypogonadism	92667	MGME1	OMIM:615084
HP:0000815	Hypergonadotropic hypogonadism	55315	SLC29A3	OMIM:602782
HP:0000815	Hypergonadotropic hypogonadism	9150	CTDP1	OMIM:604168
HP:0000815	Hypergonadotropic hypogonadism	26137	ZBTB20	OMIM:259050
HP:0000815	Hypergonadotropic hypogonadism	54453	RIN2	ORPHA:217335
HP:0000815	Hypergonadotropic hypogonadism	54453	RIN2	OMIM:613075
HP:0000815	Hypergonadotropic hypogonadism	9533	POLR1C	ORPHA:88637
HP:0000815	Hypergonadotropic hypogonadism	11128	POLR3A	ORPHA:88637
HP:0000815	Hypergonadotropic hypogonadism	55703	POLR3B	ORPHA:88637
HP:0000815	Hypergonadotropic hypogonadism	8878	SQSTM1	OMIM:617145
HP:0000815	Hypergonadotropic hypogonadism	2175	FANCA	OMIM:227650
HP:0000815	Hypergonadotropic hypogonadism	57122	NUP107	OMIM:618078
HP:0000815	Hypergonadotropic hypogonadism	1528	CYB5A	ORPHA:90796
HP:0000815	Hypergonadotropic hypogonadism	1586	CYP17A1	ORPHA:90796
HP:0000815	Hypergonadotropic hypogonadism	56652	TWNK	OMIM:616138
HP:0000815	Hypergonadotropic hypogonadism	56652	TWNK	OMIM:271245
HP:0000815	Hypergonadotropic hypogonadism	3952	LEP	ORPHA:66628
HP:0000815	Hypergonadotropic hypogonadism	1588	CYP19A1	OMIM:613546
HP:0000815	Hypergonadotropic hypogonadism	1588	CYP19A1	ORPHA:91
HP:0000815	Hypergonadotropic hypogonadism	5422	POLA1	ORPHA:163976
HP:0000815	Hypergonadotropic hypogonadism	668	FOXL2	ORPHA:572333
HP:0000815	Hypergonadotropic hypogonadism	5428	POLG	ORPHA:298
HP:0000815	Hypergonadotropic hypogonadism	5428	POLG	OMIM:157640
HP:0000815	Hypergonadotropic hypogonadism	1890	TYMP	ORPHA:298
HP:0000815	Hypergonadotropic hypogonadism	3980	LIG3	ORPHA:298
HP:0000815	Hypergonadotropic hypogonadism	50484	RRM2B	ORPHA:298
HP:0000815	Hypergonadotropic hypogonadism	2177	FANCD2	OMIM:227646
HP:0000815	Hypergonadotropic hypogonadism	27235	COQ2	OMIM:607426
HP:0000815	Hypergonadotropic hypogonadism	2176	FANCC	OMIM:227645
HP:0000815	Hypergonadotropic hypogonadism	51081	MRPS7	OMIM:617872
HP:0000815	Hypergonadotropic hypogonadism	9692	PRORP	OMIM:619737
HP:0000815	Hypergonadotropic hypogonadism	8192	CLPP	OMIM:614129
HP:0000815	Hypergonadotropic hypogonadism	3953	LEPR	OMIM:614963
HP:0000815	Hypergonadotropic hypogonadism	3953	LEPR	ORPHA:179494
HP:0000815	Hypergonadotropic hypogonadism	79184	BRCC3	ORPHA:280679
HP:0000815	Hypergonadotropic hypogonadism	4000	LMNA	OMIM:212112
HP:0000815	Hypergonadotropic hypogonadism	4000	LMNA	ORPHA:2229
HP:0000815	Hypergonadotropic hypogonadism	2778	GNAS	ORPHA:79443
HP:0000815	Hypergonadotropic hypogonadism	2778	GNAS	ORPHA:79444
HP:0000815	Hypergonadotropic hypogonadism	658	BMPR1B	OMIM:609441
HP:0000815	Hypergonadotropic hypogonadism	80067	DCAF17	OMIM:241080
HP:0000815	Hypergonadotropic hypogonadism	2178	FANCE	OMIM:600901
HP:0000815	Hypergonadotropic hypogonadism	6662	SOX9	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	6845	VAMP7	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	51741	WWOX	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	4214	MAP3K1	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	2516	NR5A1	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	58524	DMRT3	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	57647	DHX37	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	23414	ZFPM2	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	190	NR0B1	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	2626	GATA4	ORPHA:251510
HP:0000815	Hypergonadotropic hypogonadism	6342	SCP2	OMIM:613724
HP:0000815	Hypergonadotropic hypogonadism	5373	PMM2	OMIM:212065
HP:0000815	Hypergonadotropic hypogonadism	2584	GALK1	ORPHA:79237
HP:0034529	Reduced muscle myoadenylate deaminase activity	270	AMPD1	OMIM:615511
HP:0034521	Periorificial hyperkeratosis	64065	PERP	OMIM:619208
HP:0034521	Periorificial hyperkeratosis	3868	KRT16	OMIM:613000
HP:0034521	Periorificial hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0034526	Abnormal enzyme activity in muscle tissue	270	AMPD1	OMIM:615511
HP:0034526	Abnormal enzyme activity in muscle tissue	2027	ENO3	OMIM:612932
HP:0034530	Bent long bone	2263	FGFR2	OMIM:614592
HP:0000104	Renal agenesis	25970	SH2B1	ORPHA:261222
HP:0000104	Renal agenesis	65250	CPLANE1	OMIM:277170
HP:0000104	Renal agenesis	65250	CPLANE1	ORPHA:2754
HP:0000104	Renal agenesis	2187	FANCB	OMIM:300514
HP:0000104	Renal agenesis	2187	FANCB	ORPHA:3412
HP:0000104	Renal agenesis	10806	SDCCAG8	OMIM:615993
HP:0000104	Renal agenesis	2263	FGFR2	OMIM:149730
HP:0000104	Renal agenesis	5979	RET	ORPHA:1848
HP:0000104	Renal agenesis	7484	WNT9B	ORPHA:1848
HP:0000104	Renal agenesis	80000	GREB1L	ORPHA:1848
HP:0000104	Renal agenesis	80000	GREB1L	OMIM:617805
HP:0000104	Renal agenesis	10992	SF3B2	OMIM:164210
HP:0000104	Renal agenesis	546	ATRX	OMIM:301040
HP:0000104	Renal agenesis	57167	SALL4	OMIM:607323
HP:0000104	Renal agenesis	8626	TP63	OMIM:604292
HP:0000104	Renal agenesis	81839	VANGL1	ORPHA:3027
HP:0000104	Renal agenesis	80199	FUZ	ORPHA:3027
HP:0000104	Renal agenesis	64324	NSD1	ORPHA:821
HP:0000104	Renal agenesis	29072	SETD2	ORPHA:821
HP:0000104	Renal agenesis	10297	APC2	ORPHA:821
HP:0000104	Renal agenesis	25915	NDUFAF3	ORPHA:70474
HP:0000104	Renal agenesis	4714	NDUFB8	ORPHA:70474
HP:0000104	Renal agenesis	4720	NDUFS2	ORPHA:70474
HP:0000104	Renal agenesis	9997	SCO2	ORPHA:70474
HP:0000104	Renal agenesis	6834	SURF1	ORPHA:70474
HP:0000104	Renal agenesis	57465	TBC1D24	OMIM:220500
HP:0000104	Renal agenesis	1718	DHCR24	ORPHA:35107
HP:0000104	Renal agenesis	7750	ZMYM2	OMIM:619522
HP:0000104	Renal agenesis	2175	FANCA	OMIM:227650
HP:0000104	Renal agenesis	92002	CCNQ	ORPHA:140952
HP:0000104	Renal agenesis	10847	SRCAP	ORPHA:2044
HP:0000104	Renal agenesis	79971	WLS	OMIM:619648
HP:0000104	Renal agenesis	7547	ZIC3	OMIM:306955
HP:0000104	Renal agenesis	2260	FGFR1	ORPHA:280200
HP:0000104	Renal agenesis	2260	FGFR1	ORPHA:478
HP:0000104	Renal agenesis	28514	DLL1	ORPHA:280200
HP:0000104	Renal agenesis	2253	FGF8	ORPHA:280200
HP:0000104	Renal agenesis	2253	FGF8	ORPHA:478
HP:0000104	Renal agenesis	6496	SIX3	ORPHA:280200
HP:0000104	Renal agenesis	7050	TGIF1	ORPHA:280200
HP:0000104	Renal agenesis	4838	NODAL	ORPHA:280200
HP:0000104	Renal agenesis	6469	SHH	ORPHA:280200
HP:0000104	Renal agenesis	51684	SUFU	ORPHA:280200
HP:0000104	Renal agenesis	7546	ZIC2	ORPHA:280200
HP:0000104	Renal agenesis	2619	GAS1	ORPHA:280200
HP:0000104	Renal agenesis	84976	DISP1	ORPHA:280200
HP:0000104	Renal agenesis	2736	GLI2	ORPHA:280200
HP:0000104	Renal agenesis	8928	FOXH1	ORPHA:280200
HP:0000104	Renal agenesis	5727	PTCH1	ORPHA:280200
HP:0000104	Renal agenesis	50937	CDON	ORPHA:280200
HP:0000104	Renal agenesis	2177	FANCD2	OMIM:227646
HP:0000104	Renal agenesis	2176	FANCC	OMIM:227645
HP:0000104	Renal agenesis	5286	PIK3C2A	OMIM:618440
HP:0000104	Renal agenesis	7473	WNT3	OMIM:273395
HP:0000104	Renal agenesis	26123	TCTN3	ORPHA:2753
HP:0000104	Renal agenesis	26123	TCTN3	ORPHA:2754
HP:0000104	Renal agenesis	10210	TOPORS	ORPHA:2754
HP:0000104	Renal agenesis	9851	KIAA0753	ORPHA:2754
HP:0000104	Renal agenesis	5147	PDE6D	ORPHA:2754
HP:0000104	Renal agenesis	51259	TMEM216	ORPHA:2754
HP:0000104	Renal agenesis	8481	OFD1	ORPHA:2754
HP:0000104	Renal agenesis	317662	FAM149B1	ORPHA:2754
HP:0000104	Renal agenesis	374654	KIF7	ORPHA:2754
HP:0000104	Renal agenesis	3239	HOXD13	ORPHA:887
HP:0000104	Renal agenesis	7020	TFAP2A	OMIM:113620
HP:0000104	Renal agenesis	7020	TFAP2A	ORPHA:1297
HP:0000104	Renal agenesis	6135	RPL11	ORPHA:124
HP:0000104	Renal agenesis	6138	RPL15	ORPHA:124
HP:0000104	Renal agenesis	6229	RPS24	ORPHA:124
HP:0000104	Renal agenesis	6125	RPL5	ORPHA:124
HP:0000104	Renal agenesis	6204	RPS10	ORPHA:124
HP:0000104	Renal agenesis	6224	RPS20	ORPHA:124
HP:0000104	Renal agenesis	6165	RPL35A	ORPHA:124
HP:0000104	Renal agenesis	2623	GATA1	ORPHA:124
HP:0000104	Renal agenesis	6223	RPS19	ORPHA:124
HP:0000104	Renal agenesis	6232	RPS27	ORPHA:124
HP:0000104	Renal agenesis	6231	RPS26	ORPHA:124
HP:0000104	Renal agenesis	11224	RPL35	ORPHA:124
HP:0000104	Renal agenesis	6160	RPL31	ORPHA:124
HP:0000104	Renal agenesis	6218	RPS17	ORPHA:124
HP:0000104	Renal agenesis	6201	RPS7	ORPHA:124
HP:0000104	Renal agenesis	6155	RPL27	ORPHA:124
HP:0000104	Renal agenesis	6210	RPS15A	ORPHA:124
HP:0000104	Renal agenesis	90121	TSR2	ORPHA:124
HP:0000104	Renal agenesis	6141	RPL18	ORPHA:124
HP:0000104	Renal agenesis	6235	RPS29	ORPHA:124
HP:0000104	Renal agenesis	6234	RPS28	ORPHA:124
HP:0000104	Renal agenesis	51816	ADA2	ORPHA:124
HP:0000104	Renal agenesis	2178	FANCE	OMIM:600901
HP:0000104	Renal agenesis	54903	MKS1	OMIM:249000
HP:0000104	Renal agenesis	55636	CHD7	OMIM:214800
HP:0000104	Renal agenesis	55636	CHD7	ORPHA:478
HP:0000104	Renal agenesis	63895	PIEZO2	ORPHA:2461
HP:0000104	Renal agenesis	3640	INSL3	OMIM:219050
HP:0000104	Renal agenesis	10371	SEMA3A	ORPHA:478
HP:0000104	Renal agenesis	81848	SPRY4	ORPHA:478
HP:0000104	Renal agenesis	23767	FLRT3	ORPHA:478
HP:0000104	Renal agenesis	79625	NDNF	ORPHA:478
HP:0000104	Renal agenesis	389549	FEZF1	ORPHA:478
HP:0000104	Renal agenesis	1630	DCC	ORPHA:478
HP:0000104	Renal agenesis	54756	IL17RD	ORPHA:478
HP:0000104	Renal agenesis	6663	SOX10	ORPHA:478
HP:0000104	Renal agenesis	285025	CCDC141	ORPHA:478
HP:0000104	Renal agenesis	60675	PROK2	ORPHA:478
HP:0000104	Renal agenesis	1848	DUSP6	ORPHA:478
HP:0000104	Renal agenesis	6870	TACR3	ORPHA:478
HP:0000104	Renal agenesis	55717	WDR11	ORPHA:478
HP:0000104	Renal agenesis	9394	HS6ST1	ORPHA:478
HP:0000104	Renal agenesis	8820	HESX1	ORPHA:478
HP:0000104	Renal agenesis	8822	FGF17	ORPHA:478
HP:0000104	Renal agenesis	4038	LRP4	OMIM:212780
HP:0000104	Renal agenesis	26227	PHGDH	OMIM:256520
HP:0000104	Renal agenesis	5518	PPP2R1A	OMIM:616362
HP:0000104	Renal agenesis	5518	PPP2R1A	ORPHA:457284
HP:0000104	Renal agenesis	10262	SF3B4	OMIM:154400
HP:0000104	Renal agenesis	10262	SF3B4	ORPHA:245
HP:0000104	Renal agenesis	8294	H4C9	OMIM:619951
HP:0000104	Renal agenesis	392255	GDF6	OMIM:118100
HP:0000104	Renal agenesis	2138	EYA1	OMIM:113650
HP:0000104	Renal agenesis	6495	SIX1	OMIM:113650
HP:0000104	Renal agenesis	348180	CTU2	OMIM:618142
HP:0000104	Renal agenesis	1859	DYRK1A	ORPHA:268261
HP:0000104	Renal agenesis	1859	DYRK1A	ORPHA:464311
HP:0000104	Renal agenesis	128674	PROKR2	OMIM:244200
HP:0000104	Renal agenesis	55503	TRPV6	OMIM:618188
HP:0000104	Renal agenesis	1161	ERCC8	ORPHA:90324
HP:0000104	Renal agenesis	2074	ERCC6	ORPHA:90324
HP:0000104	Renal agenesis	54361	WNT4	ORPHA:3109
HP:0000104	Renal agenesis	54361	WNT4	OMIM:158330
HP:0000104	Renal agenesis	998	CDC42	ORPHA:487796
HP:0000104	Renal agenesis	998	CDC42	OMIM:616737
HP:0000104	Renal agenesis	6154	RPL26	OMIM:614900
HP:0000104	Renal agenesis	5832	ALDH18A1	OMIM:616603
HP:0000104	Renal agenesis	5832	ALDH18A1	ORPHA:90348
HP:0000104	Renal agenesis	91801	ALKBH8	OMIM:618504
HP:0000104	Renal agenesis	54499	TMCO1	OMIM:213980
HP:0000104	Renal agenesis	25914	RTTN	ORPHA:468631
HP:0000104	Renal agenesis	8496	PPFIBP1	OMIM:620024
HP:0000104	Renal agenesis	5293	PIK3CD	ORPHA:221139
HP:0000104	Renal agenesis	90417	KNSTRN	ORPHA:221139
HP:0000104	Renal agenesis	10907	TXNL4A	OMIM:608572
HP:0000104	Renal agenesis	5447	POR	ORPHA:95699
HP:0000104	Renal agenesis	91147	TMEM67	OMIM:216360
HP:0000104	Renal agenesis	284252	KCTD1	OMIM:181270
HP:0000104	Renal agenesis	79228	THOC6	ORPHA:363444
HP:0000104	Renal agenesis	79228	THOC6	OMIM:613680
HP:0000104	Renal agenesis	51360	MBTPS2	OMIM:308205
HP:0000104	Renal agenesis	6651	SON	OMIM:617140
HP:0000104	Renal agenesis	6651	SON	ORPHA:500150
HP:0000104	Renal agenesis	8942	KYNU	OMIM:617661
HP:0000104	Renal agenesis	3417	IDH1	ORPHA:99646
HP:0000104	Renal agenesis	55252	ASXL2	OMIM:617190
HP:0000104	Renal agenesis	55120	FANCL	OMIM:614083
HP:0000104	Renal agenesis	7518	XRCC4	OMIM:616541
HP:0000104	Renal agenesis	6928	HNF1B	OMIM:137920
HP:0000104	Renal agenesis	50814	NSDHL	OMIM:308050
HP:0000104	Renal agenesis	2625	GATA3	ORPHA:2237
HP:0000104	Renal agenesis	2006	ELN	ORPHA:90348
HP:0000104	Renal agenesis	10516	FBLN5	ORPHA:90348
HP:0000104	Renal agenesis	412	STS	ORPHA:281090
HP:0000104	Renal agenesis	55788	LMBRD1	ORPHA:79284
HP:0000104	Renal agenesis	9276	COPB2	ORPHA:2512
HP:0000104	Renal agenesis	11113	CIT	ORPHA:2512
HP:0000104	Renal agenesis	22995	CEP152	ORPHA:2512
HP:0000104	Renal agenesis	284403	WDR62	ORPHA:2512
HP:0000104	Renal agenesis	55262	TRAPPC14	ORPHA:2512
HP:0000104	Renal agenesis	163786	SASS6	ORPHA:2512
HP:0000104	Renal agenesis	29920	PYCR2	ORPHA:2512
HP:0000104	Renal agenesis	84879	MFSD2A	ORPHA:2512
HP:0000104	Renal agenesis	4176	MCM7	ORPHA:2512
HP:0000104	Renal agenesis	80254	CEP63	ORPHA:2512
HP:0000104	Renal agenesis	29081	METTL5	ORPHA:2512
HP:0000104	Renal agenesis	23310	NCAPD3	ORPHA:2512
HP:0000104	Renal agenesis	55755	CDK5RAP2	ORPHA:2512
HP:0000104	Renal agenesis	79648	MCPH1	ORPHA:2512
HP:0000104	Renal agenesis	6491	STIL	ORPHA:2512
HP:0000104	Renal agenesis	23141	ANKLE2	ORPHA:2512
HP:0000104	Renal agenesis	259266	ASPM	ORPHA:2512
HP:0000104	Renal agenesis	7109	TRAPPC10	ORPHA:2512
HP:0000104	Renal agenesis	1911	PHC1	ORPHA:2512
HP:0000104	Renal agenesis	6884	TAF13	ORPHA:2512
HP:0000104	Renal agenesis	9662	CEP135	ORPHA:2512
HP:0000104	Renal agenesis	55835	CENPJ	ORPHA:2512
HP:0000104	Renal agenesis	57082	KNL1	ORPHA:2512
HP:0000104	Renal agenesis	1021	CDK6	ORPHA:2512
HP:0000104	Renal agenesis	25778	DSTYK	OMIM:610805
HP:0000104	Renal agenesis	22827	PUF60	ORPHA:508488
HP:0000104	Renal agenesis	1717	DHCR7	OMIM:270400
HP:0000104	Renal agenesis	7148	TNXB	OMIM:606408
HP:0000104	Renal agenesis	3730	ANOS1	OMIM:308700
HP:0000104	Renal agenesis	6899	TBX1	OMIM:188400
HP:0000104	Renal agenesis	5781	PTPN11	OMIM:151100
HP:0000104	Renal agenesis	5087	PBX1	OMIM:617641
HP:0000104	Renal agenesis	1822	ATN1	OMIM:618494
HP:0000104	Renal agenesis	57511	COG6	OMIM:614576
HP:0000104	Renal agenesis	55012	PPP2R3C	OMIM:618419
HP:0000104	Renal agenesis	51729	WBP11	OMIM:619227
HP:0000104	Renal agenesis	2783	GNB2	OMIM:619503
HP:0000104	Renal agenesis	26057	ANKRD17	OMIM:619504
HP:0000104	Renal agenesis	5573	PRKAR1A	OMIM:101800
HP:0000104	Renal agenesis	158326	FREM1	OMIM:608980
HP:0000104	Renal agenesis	6862	TBXT	OMIM:615709
HP:0000104	Renal agenesis	23426	GRIP1	OMIM:617667
HP:0000104	Renal agenesis	26281	FGF20	OMIM:615721
HP:0000104	Renal agenesis	2737	GLI3	ORPHA:672
HP:0000104	Renal agenesis	9653	HS2ST1	OMIM:619194
HP:0000104	Renal agenesis	341640	FREM2	OMIM:617666
HP:0000104	Renal agenesis	9928	KIF14	OMIM:616258
HP:0000104	Renal agenesis	9928	KIF14	OMIM:617914
HP:0000104	Renal agenesis	2674	GFRA1	OMIM:619887
HP:0000104	Renal agenesis	55191	NADSYN1	OMIM:618845
HP:0000104	Renal agenesis	8516	ITGA8	OMIM:191830
HP:0008682	Renal tubular epithelial necrosis	3909	LAMA3	ORPHA:79404
HP:0008682	Renal tubular epithelial necrosis	3918	LAMC2	ORPHA:79404
HP:0008682	Renal tubular epithelial necrosis	3914	LAMB3	ORPHA:79404
HP:0008682	Renal tubular epithelial necrosis	1376	CPT2	ORPHA:228302
HP:0008682	Renal tubular epithelial necrosis	1376	CPT2	ORPHA:228308
HP:0008682	Renal tubular epithelial necrosis	116085	SLC22A12	OMIM:220150
HP:0008684	Aplasia/hypoplasia of the uterus	668	FOXL2	OMIM:110100
HP:0008684	Aplasia/hypoplasia of the uterus	668	FOXL2	ORPHA:572333
HP:0008684	Aplasia/hypoplasia of the uterus	668	FOXL2	OMIM:608996
HP:0008684	Aplasia/hypoplasia of the uterus	128	ADH5	OMIM:619151
HP:0008684	Aplasia/hypoplasia of the uterus	2260	FGFR1	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	81848	SPRY4	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	128674	PROKR2	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	2253	FGF8	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	60675	PROK2	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	55636	CHD7	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	6870	TACR3	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	1848	DUSP6	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	26012	NSMF	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	55717	WDR11	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	9394	HS6ST1	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	2796	GNRH1	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	2796	GNRH1	OMIM:614841
HP:0008684	Aplasia/hypoplasia of the uterus	2798	GNRHR	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	84634	KISS1R	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	84634	KISS1R	OMIM:614837
HP:0008684	Aplasia/hypoplasia of the uterus	6866	TAC3	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	8822	FGF17	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	3814	KISS1	ORPHA:432
HP:0008684	Aplasia/hypoplasia of the uterus	3814	KISS1	OMIM:614842
HP:0008684	Aplasia/hypoplasia of the uterus	5447	POR	OMIM:201750
HP:0008684	Aplasia/hypoplasia of the uterus	402381	SOHLH1	OMIM:617690
HP:0008684	Aplasia/hypoplasia of the uterus	9210	BMP15	OMIM:300510
HP:0008684	Aplasia/hypoplasia of the uterus	1349	COX7B	OMIM:309801
HP:0008684	Aplasia/hypoplasia of the uterus	3052	HCCS	OMIM:309801
HP:0008684	Aplasia/hypoplasia of the uterus	54539	NDUFB11	OMIM:309801
HP:0008684	Aplasia/hypoplasia of the uterus	145173	B3GLCT	OMIM:261540
HP:0008684	Aplasia/hypoplasia of the uterus	145173	B3GLCT	ORPHA:709
HP:0008684	Aplasia/hypoplasia of the uterus	54361	WNT4	ORPHA:247768
HP:0008684	Aplasia/hypoplasia of the uterus	2516	NR5A1	OMIM:612964
HP:0008684	Aplasia/hypoplasia of the uterus	2516	NR5A1	OMIM:612965
HP:0008684	Aplasia/hypoplasia of the uterus	80067	DCAF17	ORPHA:3464
HP:0008684	Aplasia/hypoplasia of the uterus	80067	DCAF17	OMIM:241080
HP:0008684	Aplasia/hypoplasia of the uterus	64220	STRA6	OMIM:601186
HP:0008684	Aplasia/hypoplasia of the uterus	2099	ESR1	ORPHA:785
HP:0008684	Aplasia/hypoplasia of the uterus	2099	ESR1	OMIM:615363
HP:0008684	Aplasia/hypoplasia of the uterus	317761	C14orf39	OMIM:619203
HP:0008684	Aplasia/hypoplasia of the uterus	1584	CYP11B1	OMIM:202010
HP:0008684	Aplasia/hypoplasia of the uterus	3664	IRF6	OMIM:119500
HP:0008684	Aplasia/hypoplasia of the uterus	57122	NUP107	OMIM:618078
HP:0008684	Aplasia/hypoplasia of the uterus	1528	CYB5A	ORPHA:90796
HP:0008684	Aplasia/hypoplasia of the uterus	1586	CYP17A1	ORPHA:90796
HP:0008684	Aplasia/hypoplasia of the uterus	9928	KIF14	OMIM:616258
HP:0008684	Aplasia/hypoplasia of the uterus	9928	KIF14	OMIM:617914
HP:0008684	Aplasia/hypoplasia of the uterus	56945	MRPS22	OMIM:618117
HP:0008684	Aplasia/hypoplasia of the uterus	6928	HNF1B	OMIM:137920
HP:0008684	Aplasia/hypoplasia of the uterus	8192	CLPP	OMIM:614129
HP:0008684	Aplasia/hypoplasia of the uterus	658	BMPR1B	OMIM:609441
HP:0008684	Aplasia/hypoplasia of the uterus	23514	SPIDR	OMIM:619665
HP:0008684	Aplasia/hypoplasia of the uterus	26284	ERAL1	OMIM:617565
HP:0008684	Aplasia/hypoplasia of the uterus	4439	MSH5	OMIM:617442
HP:0008684	Aplasia/hypoplasia of the uterus	51199	NIN	OMIM:614851
HP:0008684	Aplasia/hypoplasia of the uterus	23395	LARS2	OMIM:615300
HP:0008684	Aplasia/hypoplasia of the uterus	55012	PPP2R3C	OMIM:618419
HP:0008684	Aplasia/hypoplasia of the uterus	344018	FIGLA	OMIM:612310
HP:0008684	Aplasia/hypoplasia of the uterus	6664	SOX11	OMIM:615866
HP:0008684	Aplasia/hypoplasia of the uterus	50846	DHH	OMIM:233420
HP:0008684	Aplasia/hypoplasia of the uterus	50846	DHH	ORPHA:168563
HP:0008684	Aplasia/hypoplasia of the uterus	745	MYRF	OMIM:618280
HP:0008684	Aplasia/hypoplasia of the uterus	55120	FANCL	OMIM:614083
HP:0008684	Aplasia/hypoplasia of the uterus	57492	ARID1B	OMIM:135900
HP:0008684	Aplasia/hypoplasia of the uterus	2625	GATA3	ORPHA:2237
HP:0008684	Aplasia/hypoplasia of the uterus	2625	GATA3	OMIM:146255
HP:0008684	Aplasia/hypoplasia of the uterus	7476	WNT7A	ORPHA:2879
HP:0008684	Aplasia/hypoplasia of the uterus	7476	WNT7A	OMIM:276820
HP:0008684	Aplasia/hypoplasia of the uterus	1583	CYP11A1	ORPHA:168558
HP:0008684	Aplasia/hypoplasia of the uterus	1583	CYP11A1	ORPHA:289548
HP:0008684	Aplasia/hypoplasia of the uterus	57647	DHX37	OMIM:273250
HP:0008684	Aplasia/hypoplasia of the uterus	79770	TXNDC15	OMIM:619879
HP:0008684	Aplasia/hypoplasia of the uterus	9939	RBM8A	ORPHA:3320
HP:0008684	Aplasia/hypoplasia of the uterus	9939	RBM8A	OMIM:274000
HP:0008684	Aplasia/hypoplasia of the uterus	114034	TOE1	ORPHA:284339
HP:0008684	Aplasia/hypoplasia of the uterus	9562	MINPP1	ORPHA:284339
HP:0008684	Aplasia/hypoplasia of the uterus	8626	TP63	ORPHA:69085
HP:0008684	Aplasia/hypoplasia of the uterus	367	AR	ORPHA:90797
HP:0008684	Aplasia/hypoplasia of the uterus	367	AR	ORPHA:99429
HP:0008684	Aplasia/hypoplasia of the uterus	5518	PPP2R1A	ORPHA:457284
HP:0008684	Aplasia/hypoplasia of the uterus	53834	FGFRL1	OMIM:194190
HP:0008684	Aplasia/hypoplasia of the uterus	1487	CTBP1	OMIM:194190
HP:0008684	Aplasia/hypoplasia of the uterus	3954	LETM1	OMIM:194190
HP:0008684	Aplasia/hypoplasia of the uterus	7468	NSD2	OMIM:194190
HP:0008684	Aplasia/hypoplasia of the uterus	10815	CPLX1	OMIM:194190
HP:0008684	Aplasia/hypoplasia of the uterus	29893	PSMC3IP	ORPHA:243
HP:0008684	Aplasia/hypoplasia of the uterus	171568	POLR3H	ORPHA:243
HP:0008684	Aplasia/hypoplasia of the uterus	125150	ZSWIM7	ORPHA:243
HP:0008684	Aplasia/hypoplasia of the uterus	2492	FSHR	ORPHA:243
HP:0008684	Aplasia/hypoplasia of the uterus	646	BNC1	ORPHA:243
HP:0008684	Aplasia/hypoplasia of the uterus	2737	GLI3	ORPHA:672
HP:0000062	Ambiguous genitalia	1718	DHCR24	OMIM:602398
HP:0000062	Ambiguous genitalia	1583	CYP11A1	ORPHA:289548
HP:0000062	Ambiguous genitalia	1583	CYP11A1	ORPHA:168558
HP:0000062	Ambiguous genitalia	7259	TSPYL1	OMIM:608800
HP:0000062	Ambiguous genitalia	6716	SRD5A2	OMIM:264600
HP:0000062	Ambiguous genitalia	6716	SRD5A2	ORPHA:753
HP:0000062	Ambiguous genitalia	6913	TBX15	OMIM:260660
HP:0000062	Ambiguous genitalia	54903	MKS1	OMIM:249000
HP:0000062	Ambiguous genitalia	1528	CYB5A	ORPHA:90796
HP:0000062	Ambiguous genitalia	1586	CYP17A1	ORPHA:90796
HP:0000062	Ambiguous genitalia	1586	CYP17A1	ORPHA:90793
HP:0000062	Ambiguous genitalia	6736	SRY	ORPHA:1772
HP:0000062	Ambiguous genitalia	7490	WT1	OMIM:194080
HP:0000062	Ambiguous genitalia	7490	WT1	ORPHA:347
HP:0000062	Ambiguous genitalia	3284	HSD3B2	ORPHA:90791
HP:0000062	Ambiguous genitalia	6309	SC5D	OMIM:607330
HP:0000062	Ambiguous genitalia	7148	TNXB	OMIM:606408
HP:0000062	Ambiguous genitalia	1588	CYP19A1	ORPHA:91
HP:0000062	Ambiguous genitalia	2737	GLI3	ORPHA:672
HP:0000062	Ambiguous genitalia	2737	GLI3	ORPHA:93322
HP:0000062	Ambiguous genitalia	6662	SOX9	ORPHA:393
HP:0000062	Ambiguous genitalia	6662	SOX9	ORPHA:140
HP:0000062	Ambiguous genitalia	6662	SOX9	ORPHA:251510
HP:0000062	Ambiguous genitalia	6662	SOX9	ORPHA:2138
HP:0000062	Ambiguous genitalia	6658	SOX3	ORPHA:393
HP:0000062	Ambiguous genitalia	190	NR0B1	ORPHA:393
HP:0000062	Ambiguous genitalia	190	NR0B1	ORPHA:251510
HP:0000062	Ambiguous genitalia	341640	FREM2	ORPHA:2052
HP:0000062	Ambiguous genitalia	341640	FREM2	OMIM:617666
HP:0000062	Ambiguous genitalia	80144	FRAS1	ORPHA:2052
HP:0000062	Ambiguous genitalia	23426	GRIP1	ORPHA:2052
HP:0000062	Ambiguous genitalia	28981	IFT81	OMIM:617895
HP:0000062	Ambiguous genitalia	4750	NEK1	OMIM:263520
HP:0000062	Ambiguous genitalia	5447	POR	OMIM:613571
HP:0000062	Ambiguous genitalia	5447	POR	ORPHA:95699
HP:0000062	Ambiguous genitalia	5447	POR	OMIM:201750
HP:0000062	Ambiguous genitalia	7026	NR2F2	OMIM:618901
HP:0000062	Ambiguous genitalia	2908	NR3C1	ORPHA:786
HP:0000062	Ambiguous genitalia	81839	VANGL1	ORPHA:3027
HP:0000062	Ambiguous genitalia	80199	FUZ	ORPHA:3027
HP:0000062	Ambiguous genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000062	Ambiguous genitalia	55112	DYNC2I1	OMIM:615503
HP:0000062	Ambiguous genitalia	57560	IFT80	ORPHA:93271
HP:0000062	Ambiguous genitalia	57539	WDR35	ORPHA:93271
HP:0000062	Ambiguous genitalia	79659	DYNC2H1	ORPHA:93271
HP:0000062	Ambiguous genitalia	79659	DYNC2H1	OMIM:613091
HP:0000062	Ambiguous genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000062	Ambiguous genitalia	117581	TWIST2	OMIM:200110
HP:0000062	Ambiguous genitalia	117581	TWIST2	ORPHA:920
HP:0000062	Ambiguous genitalia	1646	AKR1C2	OMIM:614279
HP:0000062	Ambiguous genitalia	1109	AKR1C4	OMIM:614279
HP:0000062	Ambiguous genitalia	367	AR	ORPHA:90797
HP:0000062	Ambiguous genitalia	54101	RIPK4	ORPHA:1234
HP:0000062	Ambiguous genitalia	54101	RIPK4	OMIM:263650
HP:0000062	Ambiguous genitalia	22858	CILK1	OMIM:612651
HP:0000062	Ambiguous genitalia	1717	DHCR7	ORPHA:818
HP:0000062	Ambiguous genitalia	1717	DHCR7	OMIM:270400
HP:0000062	Ambiguous genitalia	1584	CYP11B1	ORPHA:90795
HP:0000062	Ambiguous genitalia	170302	ARX	ORPHA:452
HP:0000062	Ambiguous genitalia	170302	ARX	OMIM:300215
HP:0000062	Ambiguous genitalia	2260	FGFR1	ORPHA:280200
HP:0000062	Ambiguous genitalia	28514	DLL1	ORPHA:280200
HP:0000062	Ambiguous genitalia	2253	FGF8	ORPHA:280200
HP:0000062	Ambiguous genitalia	6496	SIX3	ORPHA:280200
HP:0000062	Ambiguous genitalia	7050	TGIF1	ORPHA:280200
HP:0000062	Ambiguous genitalia	4838	NODAL	ORPHA:280200
HP:0000062	Ambiguous genitalia	6469	SHH	ORPHA:280200
HP:0000062	Ambiguous genitalia	51684	SUFU	ORPHA:280200
HP:0000062	Ambiguous genitalia	7546	ZIC2	ORPHA:280200
HP:0000062	Ambiguous genitalia	2619	GAS1	ORPHA:280200
HP:0000062	Ambiguous genitalia	84976	DISP1	ORPHA:280200
HP:0000062	Ambiguous genitalia	2736	GLI2	ORPHA:280200
HP:0000062	Ambiguous genitalia	8928	FOXH1	ORPHA:280200
HP:0000062	Ambiguous genitalia	5727	PTCH1	ORPHA:280200
HP:0000062	Ambiguous genitalia	50937	CDON	ORPHA:280200
HP:0000062	Ambiguous genitalia	23414	ZFPM2	OMIM:616067
HP:0000062	Ambiguous genitalia	23414	ZFPM2	ORPHA:251510
HP:0000062	Ambiguous genitalia	1108	CHD4	OMIM:617159
HP:0000062	Ambiguous genitalia	114034	TOE1	OMIM:614969
HP:0000062	Ambiguous genitalia	114034	TOE1	ORPHA:284339
HP:0000062	Ambiguous genitalia	27077	B9D1	OMIM:614209
HP:0000062	Ambiguous genitalia	27077	B9D1	ORPHA:564
HP:0000062	Ambiguous genitalia	546	ATRX	ORPHA:847
HP:0000062	Ambiguous genitalia	84314	TMEM107	ORPHA:564
HP:0000062	Ambiguous genitalia	26123	TCTN3	ORPHA:564
HP:0000062	Ambiguous genitalia	79867	TCTN2	ORPHA:564
HP:0000062	Ambiguous genitalia	79867	TCTN2	OMIM:613885
HP:0000062	Ambiguous genitalia	80776	B9D2	ORPHA:564
HP:0000062	Ambiguous genitalia	79600	TCTN1	ORPHA:564
HP:0000062	Ambiguous genitalia	57096	RPGRIP1	ORPHA:564
HP:0000062	Ambiguous genitalia	79848	CSPP1	ORPHA:564
HP:0000062	Ambiguous genitalia	80184	CEP290	ORPHA:564
HP:0000062	Ambiguous genitalia	51259	TMEM216	ORPHA:564
HP:0000062	Ambiguous genitalia	57545	CC2D2A	ORPHA:564
HP:0000062	Ambiguous genitalia	79583	TMEM231	ORPHA:564
HP:0000062	Ambiguous genitalia	91147	TMEM67	ORPHA:564
HP:0000062	Ambiguous genitalia	79770	TXNDC15	ORPHA:564
HP:0000062	Ambiguous genitalia	79770	TXNDC15	OMIM:619879
HP:0000062	Ambiguous genitalia	23322	RPGRIP1L	ORPHA:564
HP:0000062	Ambiguous genitalia	65062	TMEM237	ORPHA:564
HP:0000062	Ambiguous genitalia	9184	BUB3	ORPHA:1052
HP:0000062	Ambiguous genitalia	699	BUB1	ORPHA:1052
HP:0000062	Ambiguous genitalia	9702	CEP57	ORPHA:1052
HP:0000062	Ambiguous genitalia	9319	TRIP13	ORPHA:1052
HP:0000062	Ambiguous genitalia	701	BUB1B	ORPHA:1052
HP:0000062	Ambiguous genitalia	701	BUB1B	OMIM:257300
HP:0000062	Ambiguous genitalia	2626	GATA4	OMIM:615542
HP:0000062	Ambiguous genitalia	2626	GATA4	ORPHA:251510
HP:0000062	Ambiguous genitalia	6845	VAMP7	ORPHA:251510
HP:0000062	Ambiguous genitalia	51741	WWOX	ORPHA:251510
HP:0000062	Ambiguous genitalia	4214	MAP3K1	ORPHA:251510
HP:0000062	Ambiguous genitalia	58524	DMRT3	ORPHA:251510
HP:0000062	Ambiguous genitalia	57647	DHX37	ORPHA:251510
HP:0000062	Ambiguous genitalia	57647	DHX37	ORPHA:983
HP:0000062	Ambiguous genitalia	3293	HSD17B3	ORPHA:752
HP:0000062	Ambiguous genitalia	348180	CTU2	OMIM:618142
HP:0000062	Ambiguous genitalia	3481	IGF2	OMIM:616489
HP:0000062	Ambiguous genitalia	95681	CEP41	OMIM:614464
HP:0000062	Ambiguous genitalia	150468	CKAP2L	OMIM:272440
HP:0000062	Ambiguous genitalia	526	ATP6V1B2	ORPHA:79500
HP:0000062	Ambiguous genitalia	57465	TBC1D24	ORPHA:79500
HP:0000062	Ambiguous genitalia	374879	ZNF699	OMIM:619488
HP:0000062	Ambiguous genitalia	2232	FDXR	ORPHA:543470
HP:0000062	Ambiguous genitalia	10293	TRAIP	OMIM:616777
HP:0000062	Ambiguous genitalia	5080	PAX6	ORPHA:893
HP:0000062	Ambiguous genitalia	627	BDNF	ORPHA:893
HP:0000062	Ambiguous genitalia	745	MYRF	OMIM:618280
HP:0000062	Ambiguous genitalia	153241	CEP120	OMIM:616300
HP:0000062	Ambiguous genitalia	3664	IRF6	ORPHA:1300
HP:0000062	Ambiguous genitalia	3239	HOXD13	ORPHA:887
HP:0000062	Ambiguous genitalia	29893	PSMC3IP	ORPHA:243
HP:0000062	Ambiguous genitalia	171568	POLR3H	ORPHA:243
HP:0000062	Ambiguous genitalia	125150	ZSWIM7	ORPHA:243
HP:0000062	Ambiguous genitalia	9210	BMP15	ORPHA:243
HP:0000062	Ambiguous genitalia	57122	NUP107	ORPHA:243
HP:0000062	Ambiguous genitalia	23514	SPIDR	ORPHA:243
HP:0000062	Ambiguous genitalia	2492	FSHR	ORPHA:243
HP:0000062	Ambiguous genitalia	56945	MRPS22	ORPHA:243
HP:0000062	Ambiguous genitalia	646	BNC1	ORPHA:243
HP:0000062	Ambiguous genitalia	9562	MINPP1	ORPHA:284339
HP:0000062	Ambiguous genitalia	5087	PBX1	OMIM:617641
HP:0000062	Ambiguous genitalia	2535	FZD2	ORPHA:93328
HP:0000062	Ambiguous genitalia	2516	NR5A1	OMIM:617480
HP:0000062	Ambiguous genitalia	284654	RSPO1	OMIM:610644
HP:0000062	Ambiguous genitalia	54361	WNT4	OMIM:611812
HP:0000062	Ambiguous genitalia	1349	COX7B	OMIM:309801
HP:0000062	Ambiguous genitalia	3052	HCCS	OMIM:309801
HP:0000062	Ambiguous genitalia	54539	NDUFB11	OMIM:309801
HP:0008689	Bilateral cryptorchidism	3476	IGBP1	OMIM:300472
HP:0008689	Bilateral cryptorchidism	26160	IFT172	OMIM:619471
HP:0008689	Bilateral cryptorchidism	2245	FGD1	OMIM:305400
HP:0008689	Bilateral cryptorchidism	6134	RPL10	OMIM:300998
HP:0008689	Bilateral cryptorchidism	60529	ALX4	OMIM:613451
HP:0008689	Bilateral cryptorchidism	26005	C2CD3	ORPHA:434179
HP:0008689	Bilateral cryptorchidism	1387	CREBBP	OMIM:180849
HP:0008689	Bilateral cryptorchidism	2033	EP300	OMIM:180849
HP:0008689	Bilateral cryptorchidism	26137	ZBTB20	OMIM:259050
HP:0008689	Bilateral cryptorchidism	26137	ZBTB20	ORPHA:3042
HP:0008689	Bilateral cryptorchidism	55610	VPS50	OMIM:619685
HP:0008689	Bilateral cryptorchidism	2222	FDFT1	OMIM:618156
HP:0008689	Bilateral cryptorchidism	367	AR	ORPHA:90797
HP:0008689	Bilateral cryptorchidism	367	AR	ORPHA:99429
HP:0008689	Bilateral cryptorchidism	4953	ODC1	ORPHA:544488
HP:0008689	Bilateral cryptorchidism	7291	TWIST1	OMIM:617746
HP:0008689	Bilateral cryptorchidism	50485	SMARCAL1	OMIM:242900
HP:0008689	Bilateral cryptorchidism	10667	FARS2	ORPHA:466722
HP:0008689	Bilateral cryptorchidism	1586	CYP17A1	ORPHA:90793
HP:0008689	Bilateral cryptorchidism	4841	NONO	ORPHA:466791
HP:0008689	Bilateral cryptorchidism	4784	NFIX	OMIM:602535
HP:0008689	Bilateral cryptorchidism	4047	LSS	OMIM:618840
HP:0008689	Bilateral cryptorchidism	55870	ASH1L	OMIM:617796
HP:0008689	Bilateral cryptorchidism	10606	PAICS	OMIM:619859
HP:0008689	Bilateral cryptorchidism	7994	KAT6A	OMIM:616268
HP:0008689	Bilateral cryptorchidism	131118	DNAJC19	ORPHA:66634
HP:0008689	Bilateral cryptorchidism	10584	COLEC10	ORPHA:293843
HP:0008689	Bilateral cryptorchidism	5648	MASP1	ORPHA:293843
HP:0008689	Bilateral cryptorchidism	78989	COLEC11	ORPHA:293843
HP:0008689	Bilateral cryptorchidism	2074	ERCC6	OMIM:278800
HP:0008689	Bilateral cryptorchidism	1009	CDH11	OMIM:211380
HP:0008689	Bilateral cryptorchidism	10210	TOPORS	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	9851	KIAA0753	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	26123	TCTN3	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	5147	PDE6D	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	65250	CPLANE1	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	51259	TMEM216	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	8481	OFD1	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	317662	FAM149B1	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	374654	KIF7	ORPHA:2754
HP:0008689	Bilateral cryptorchidism	80311	KLHL15	OMIM:300982
HP:0008689	Bilateral cryptorchidism	404672	GTF2H5	OMIM:616395
HP:0008689	Bilateral cryptorchidism	6261	RYR1	OMIM:619542
HP:0008689	Bilateral cryptorchidism	22884	WDR37	OMIM:618652
HP:0008689	Bilateral cryptorchidism	54101	RIPK4	OMIM:263650
HP:0008689	Bilateral cryptorchidism	4174	MCM5	OMIM:617564
HP:0008689	Bilateral cryptorchidism	269	AMHR2	OMIM:261550
HP:0008689	Bilateral cryptorchidism	268	AMH	OMIM:261550
HP:0008689	Bilateral cryptorchidism	523	ATP6V1A	OMIM:617403
HP:0008689	Bilateral cryptorchidism	529	ATP6V1E1	OMIM:617402
HP:0008689	Bilateral cryptorchidism	6736	SRY	ORPHA:1772
HP:0008689	Bilateral cryptorchidism	1954	MEGF8	OMIM:614976
HP:0008689	Bilateral cryptorchidism	5426	POLE	OMIM:618336
HP:0008687	Hypoplasia of the prostate	84295	PHF6	OMIM:301900
HP:0034532	Increased myocardial glycogen content	54800	KLHL24	OMIM:620236
HP:0034532	Increased myocardial glycogen content	51422	PRKAG2	OMIM:261740
HP:0000061	Ambiguous genitalia, female	1718	DHCR24	OMIM:602398
HP:0000061	Ambiguous genitalia, female	7148	TNXB	OMIM:606408
HP:0000061	Ambiguous genitalia, female	6913	TBX15	OMIM:260660
HP:0000061	Ambiguous genitalia, female	54903	MKS1	OMIM:249000
HP:0000061	Ambiguous genitalia, female	1584	CYP11B1	OMIM:202010
HP:0000061	Ambiguous genitalia, female	1584	CYP11B1	ORPHA:90795
HP:0000061	Ambiguous genitalia, female	6736	SRY	ORPHA:1772
HP:0000061	Ambiguous genitalia, female	7490	WT1	OMIM:194080
HP:0000061	Ambiguous genitalia, female	3284	HSD3B2	ORPHA:90791
HP:0000061	Ambiguous genitalia, female	1588	CYP19A1	ORPHA:91
HP:0008695	Transient nephrotic syndrome	7355	SLC35A2	ORPHA:356961
HP:0008696	Renal hamartoma	7249	TSC2	OMIM:613254
HP:0008696	Renal hamartoma	7249	TSC2	ORPHA:805
HP:0008696	Renal hamartoma	7249	TSC2	ORPHA:538
HP:0008696	Renal hamartoma	3458	IFNG	OMIM:613254
HP:0008696	Renal hamartoma	3458	IFNG	ORPHA:805
HP:0008696	Renal hamartoma	4598	MVK	OMIM:260920
HP:0008696	Renal hamartoma	7248	TSC1	ORPHA:805
HP:0008696	Renal hamartoma	7248	TSC1	OMIM:191100
HP:0008696	Renal hamartoma	7248	TSC1	ORPHA:538
HP:0008696	Renal hamartoma	1027	CDKN1B	OMIM:610755
HP:0008696	Renal hamartoma	1027	CDKN1B	ORPHA:276152
HP:0008696	Renal hamartoma	129563	DIS3L2	OMIM:267000
HP:0008696	Renal hamartoma	79577	CDC73	ORPHA:143
HP:0008696	Renal hamartoma	79577	CDC73	ORPHA:99880
HP:0008697	Hypoplasia of the fallopian tube	80067	DCAF17	OMIM:241080
HP:0008697	Hypoplasia of the fallopian tube	80067	DCAF17	ORPHA:3464
HP:0008697	Hypoplasia of the fallopian tube	7473	WNT3	OMIM:273395
HP:0008697	Hypoplasia of the fallopian tube	50846	DHH	OMIM:233420
HP:0008740	Longitudinal vaginal septum	3209	HOXA13	OMIM:140000
HP:0034548	Portal vein hypoplasia	10112	KIF20A	OMIM:619433
HP:0034552	Abnormal peroxisomal morphology	5190	PEX6	OMIM:614862
HP:0034553	Absence of peroxisomes	5190	PEX6	OMIM:614862
HP:0034557	Rhabdoid tumor	6597	SMARCA4	OMIM:613325
HP:0034565	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	471	ATIC	OMIM:608688
HP:0034566	Aplasia of posterior communicating artery	84667	HES7	OMIM:613686
HP:0034567	Optic pit	5950	RBP4	OMIM:616428
HP:0034572	Pigment incontinence	84946	LTV1	OMIM:620199
HP:0034573	Abnormal epidermal protein expression	1893	ECM1	OMIM:247100
HP:0034585	Cochlear nerve hypoplasia	84196	USP48	OMIM:620227
HP:0034585	Cochlear nerve hypoplasia	9131	AIFM1	OMIM:300614
HP:0034586	Glutathionuria	2678	GGT1	OMIM:231950
HP:0034587	Nevus psiloliparus	2260	FGFR1	OMIM:613001
HP:0034588	Crypt hyperplasia	4072	EPCAM	OMIM:613217
HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration	3284	HSD3B2	OMIM:201810
HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration	54361	WNT4	OMIM:158330
HP:0040006	Mortality/Aging	83483	PLVAP	OMIM:618183
HP:0040006	Mortality/Aging	10128	LRPPRC	OMIM:220111
HP:0040006	Mortality/Aging	199857	ALG14	OMIM:619036
HP:0040006	Mortality/Aging	3551	IKBKB	OMIM:615592
HP:0040006	Mortality/Aging	341640	FREM2	ORPHA:2052
HP:0040006	Mortality/Aging	80144	FRAS1	ORPHA:2052
HP:0040006	Mortality/Aging	83700	JAM3	OMIM:613730
HP:0040006	Mortality/Aging	10059	DNM1L	OMIM:614388
HP:0040006	Mortality/Aging	55627	SMPD4	OMIM:618622
HP:0040006	Mortality/Aging	51	ACOX1	ORPHA:2971
HP:0040006	Mortality/Aging	2731	GLDC	OMIM:605899
HP:0040006	Mortality/Aging	275	AMT	OMIM:605899
HP:0040006	Mortality/Aging	65993	MRPS34	OMIM:617664
HP:0040006	Mortality/Aging	80816	ASXL3	OMIM:615485
HP:0040006	Mortality/Aging	1352	COX10	OMIM:619046
HP:0040006	Mortality/Aging	387787	LIPT2	OMIM:617668
HP:0040006	Mortality/Aging	4056	LTC4S	OMIM:614037
HP:0040006	Mortality/Aging	2137	EXTL3	OMIM:617425
HP:0040006	Mortality/Aging	5979	RET	ORPHA:99803
HP:0040006	Mortality/Aging	429	ASCL1	ORPHA:99803
HP:0040006	Mortality/Aging	8929	PHOX2B	ORPHA:99803
HP:0040006	Mortality/Aging	1410	CRYAB	OMIM:613869
HP:0040006	Mortality/Aging	6439	SFTPB	OMIM:265120
HP:0040006	Mortality/Aging	7259	TSPYL1	ORPHA:168593
HP:0040006	Mortality/Aging	55687	TRMU	OMIM:613070
HP:0040006	Mortality/Aging	3899	AFF3	OMIM:619297
HP:0040006	Mortality/Aging	1020	CDK5	OMIM:616342
HP:0040006	Mortality/Aging	150094	SIK1	OMIM:616341
HP:0040006	Mortality/Aging	1272	CNTN1	OMIM:612540
HP:0040006	Mortality/Aging	84876	ORAI1	OMIM:612782
HP:0040006	Mortality/Aging	3988	LIPA	OMIM:278000
HP:0040006	Mortality/Aging	6773	STAT2	OMIM:618886
HP:0040006	Mortality/Aging	64359	NXN	ORPHA:1507
HP:0040006	Mortality/Aging	4920	ROR2	ORPHA:1507
HP:0040006	Mortality/Aging	21	ABCA3	OMIM:610921
HP:0040006	Mortality/Aging	546	ATRX	ORPHA:847
HP:0040006	Mortality/Aging	54675	CRLS1	OMIM:620167
HP:0040006	Mortality/Aging	1717	DHCR7	OMIM:270400
HP:0040006	Mortality/Aging	118429	ANTXR2	ORPHA:2028
HP:0040006	Mortality/Aging	388962	BOLA3	OMIM:614299
HP:0040006	Mortality/Aging	4632	MYL1	OMIM:618414
HP:0040006	Mortality/Aging	63894	VIPAS39	OMIM:613404
HP:0040006	Mortality/Aging	79053	ALG8	OMIM:608104
HP:0040006	Mortality/Aging	63901	FAM111A	OMIM:602361
HP:0040006	Mortality/Aging	26154	ABCA12	OMIM:242500
HP:0040006	Mortality/Aging	65080	MRPL44	OMIM:615395
HP:0040006	Mortality/Aging	5190	PEX6	OMIM:614862
HP:0040006	Mortality/Aging	5190	PEX6	ORPHA:912
HP:0040006	Mortality/Aging	9255	AIMP1	OMIM:260600
HP:0040006	Mortality/Aging	10013	HDAC6	ORPHA:163966
HP:0040006	Mortality/Aging	128674	PROKR2	ORPHA:95496
HP:0040006	Mortality/Aging	89884	LHX4	ORPHA:95496
HP:0040006	Mortality/Aging	55717	WDR11	ORPHA:95496
HP:0040006	Mortality/Aging	6091	ROBO1	ORPHA:95496
HP:0040006	Mortality/Aging	8820	HESX1	ORPHA:95496
HP:0040006	Mortality/Aging	50937	CDON	ORPHA:95496
HP:0040006	Mortality/Aging	23432	GPR161	ORPHA:95496
HP:0040006	Mortality/Aging	23474	ETHE1	OMIM:602473
HP:0040006	Mortality/Aging	51611	DPH5	OMIM:620070
HP:0040006	Mortality/Aging	6628	SNRPB	ORPHA:1393
HP:0040006	Mortality/Aging	8818	DPM2	OMIM:615042
HP:0040006	Mortality/Aging	10436	EMG1	ORPHA:1270
HP:0040006	Mortality/Aging	55670	PEX26	OMIM:614872
HP:0040006	Mortality/Aging	55670	PEX26	ORPHA:912
HP:0040006	Mortality/Aging	9409	PEX16	OMIM:614876
HP:0040006	Mortality/Aging	9409	PEX16	ORPHA:912
HP:0040006	Mortality/Aging	25802	LMOD1	ORPHA:2241
HP:0040006	Mortality/Aging	4629	MYH11	ORPHA:2241
HP:0040006	Mortality/Aging	72	ACTG2	ORPHA:2241
HP:0040006	Mortality/Aging	4638	MYLK	ORPHA:2241
HP:0040006	Mortality/Aging	2239	GPC4	ORPHA:373
HP:0040006	Mortality/Aging	2719	GPC3	ORPHA:373
HP:0040006	Mortality/Aging	4000	LMNA	ORPHA:157973
HP:0040006	Mortality/Aging	8504	PEX3	OMIM:614882
HP:0040006	Mortality/Aging	8504	PEX3	ORPHA:912
HP:0040006	Mortality/Aging	54916	TMEM260	OMIM:617478
HP:0040006	Mortality/Aging	2261	FGFR3	OMIM:100800
HP:0040006	Mortality/Aging	2720	GLB1	OMIM:230500
HP:0040006	Mortality/Aging	3914	LAMB3	OMIM:226700
HP:0040006	Mortality/Aging	27247	NFU1	OMIM:605711
HP:0040006	Mortality/Aging	51645	PPIL1	OMIM:619301
HP:0040006	Mortality/Aging	51362	CDC40	OMIM:619302
HP:0040006	Mortality/Aging	4633	MYL2	OMIM:619424
HP:0040006	Mortality/Aging	91137	SLC25A46	OMIM:619303
HP:0040006	Mortality/Aging	1892	ECHS1	OMIM:616277
HP:0040006	Mortality/Aging	27429	HTRA2	OMIM:617248
HP:0040006	Mortality/Aging	57724	EPG5	ORPHA:1493
HP:0040006	Mortality/Aging	5824	PEX19	ORPHA:912
HP:0040006	Mortality/Aging	8799	PEX11B	ORPHA:912
HP:0040006	Mortality/Aging	5193	PEX12	ORPHA:912
HP:0040006	Mortality/Aging	5194	PEX13	ORPHA:912
HP:0040006	Mortality/Aging	5195	PEX14	ORPHA:912
HP:0040006	Mortality/Aging	5192	PEX10	ORPHA:912
HP:0040006	Mortality/Aging	56052	ALG1	OMIM:608540
HP:0040006	Mortality/Aging	9488	PIGB	OMIM:618580
HP:0040006	Mortality/Aging	91949	COG7	OMIM:608779
HP:0040006	Mortality/Aging	10112	KIF20A	OMIM:619433
HP:0040006	Mortality/Aging	5339	PLEC	OMIM:226730
HP:0040006	Mortality/Aging	3691	ITGB4	OMIM:226730
HP:0040006	Mortality/Aging	112	ADCY6	OMIM:616287
HP:0040006	Mortality/Aging	2187	FANCB	OMIM:300514
HP:0040006	Mortality/Aging	56203	LMOD3	OMIM:616165
HP:0040006	Mortality/Aging	9526	MPDU1	OMIM:609180
HP:0040006	Mortality/Aging	4729	NDUFV2	OMIM:618229
HP:0040006	Mortality/Aging	256297	PTF1A	OMIM:609069
HP:0040006	Mortality/Aging	56945	MRPS22	OMIM:611719
HP:0040006	Mortality/Aging	4695	NDUFA2	OMIM:618235
HP:0040006	Mortality/Aging	6809	STX3	OMIM:619446
HP:0040006	Mortality/Aging	51601	LIPT1	OMIM:616299
HP:0040006	Mortality/Aging	54931	TRMT10C	OMIM:616974
HP:0040006	Mortality/Aging	5660	PSAP	ORPHA:139406
HP:0040006	Mortality/Aging	5660	PSAP	OMIM:611721
HP:0040006	Mortality/Aging	5660	PSAP	OMIM:611722
HP:0040006	Mortality/Aging	29968	PSAT1	OMIM:610992
HP:0040006	Mortality/Aging	10683	DLL3	OMIM:277300
HP:0040006	Mortality/Aging	145873	MESP2	OMIM:277300
HP:0040006	Mortality/Aging	4952	OCRL	ORPHA:534
HP:0040006	Mortality/Aging	56975	FAM20C	OMIM:259775
HP:0040006	Mortality/Aging	170302	ARX	ORPHA:452
HP:0040006	Mortality/Aging	5980	REV3L	ORPHA:570
HP:0040006	Mortality/Aging	23129	PLXND1	ORPHA:570
HP:0040006	Mortality/Aging	537	ATP6AP1	OMIM:300972
HP:0040006	Mortality/Aging	25915	NDUFAF3	OMIM:618240
HP:0040006	Mortality/Aging	4998	ORC1	OMIM:224690
HP:0040006	Mortality/Aging	7019	TFAM	OMIM:617156
HP:0040006	Mortality/Aging	2073	ERCC5	ORPHA:1466
HP:0040006	Mortality/Aging	7965	AIMP2	OMIM:618006
HP:0040006	Mortality/Aging	2917	GRM7	OMIM:618922
HP:0040006	Mortality/Aging	22845	DOLK	OMIM:610768
HP:0040006	Mortality/Aging	64093	SMOC1	ORPHA:1106
HP:0040006	Mortality/Aging	6821	SUOX	OMIM:272300
HP:0040006	Mortality/Aging	1641	DCX	OMIM:300067
HP:0040006	Mortality/Aging	26276	VPS33B	OMIM:208085
HP:0040006	Mortality/Aging	3977	LIFR	OMIM:601559
HP:0040006	Mortality/Aging	4905	NSF	OMIM:619340
HP:0040006	Mortality/Aging	5277	PIGA	OMIM:300868
HP:0040006	Mortality/Aging	57511	COG6	OMIM:614576
HP:0040006	Mortality/Aging	9971	NR1H4	OMIM:617049
HP:0040006	Mortality/Aging	9419	CRIPT	OMIM:615789
HP:0040006	Mortality/Aging	2313	FLI1	ORPHA:2308
HP:0040006	Mortality/Aging	60386	SLC25A19	ORPHA:99742
HP:0040006	Mortality/Aging	9997	SCO2	OMIM:604377
HP:0040006	Mortality/Aging	80347	COASY	OMIM:618266
HP:0040006	Mortality/Aging	51241	COX16	OMIM:619355
HP:0040006	Mortality/Aging	37	ACADVL	OMIM:201475
HP:0040006	Mortality/Aging	1861	TOR1A	OMIM:618947
HP:0040006	Mortality/Aging	29957	SLC25A24	OMIM:612289
HP:0040006	Mortality/Aging	8087	FXR1	OMIM:618822
HP:0040006	Mortality/Aging	3704	ITPA	OMIM:616647
HP:0040006	Mortality/Aging	6608	SMO	OMIM:241800
HP:0040006	Mortality/Aging	658	BMPR1B	ORPHA:2098
HP:0040006	Mortality/Aging	3425	IDUA	ORPHA:93473
HP:0040006	Mortality/Aging	291	SLC25A4	OMIM:617184
HP:0040006	Mortality/Aging	55278	QRSL1	OMIM:618835
HP:0040006	Mortality/Aging	7284	TUFM	OMIM:610678
HP:0040006	Mortality/Aging	4645	MYO5B	OMIM:251850
HP:0040006	Mortality/Aging	283459	GATC	OMIM:618839
HP:0040006	Mortality/Aging	1376	CPT2	OMIM:608836
HP:0040006	Mortality/Aging	6123	RPL3L	OMIM:619371
HP:0040006	Mortality/Aging	57020	VPS35L	OMIM:619135
HP:0040006	Mortality/Aging	29954	POMT2	OMIM:613150
HP:0040006	Mortality/Aging	4724	NDUFS4	OMIM:252010
HP:0040006	Mortality/Aging	10491	CRTAP	OMIM:610682
HP:0040006	Mortality/Aging	55191	NADSYN1	OMIM:618845
HP:0040006	Mortality/Aging	10225	CD96	ORPHA:1308
HP:0040006	Mortality/Aging	9939	RBM8A	OMIM:274000
HP:0040006	Mortality/Aging	23529	CLCF1	ORPHA:1545
HP:0040006	Mortality/Aging	9244	CRLF1	ORPHA:1545
HP:0040006	Mortality/Aging	9897	WASHC5	ORPHA:7
HP:0040006	Mortality/Aging	28952	CCDC22	ORPHA:7
HP:0040006	Mortality/Aging	9054	NFS1	OMIM:619386
HP:0040006	Mortality/Aging	4893	NRAS	OMIM:249400
HP:0040006	Mortality/Aging	221927	BRAT1	OMIM:614498
HP:0040006	Mortality/Aging	131377	KLHL40	OMIM:615348
HP:0040006	Mortality/Aging	255758	DYNLT2B	OMIM:617405
HP:0040006	Mortality/Aging	2294	FOXF1	OMIM:265380
HP:0040006	Mortality/Aging	23019	CNOT1	OMIM:618500
HP:0040006	Mortality/Aging	8506	CNTNAP1	OMIM:618186
HP:0040006	Mortality/Aging	8496	PPFIBP1	OMIM:620024
HP:0040006	Mortality/Aging	64220	STRA6	OMIM:601186
HP:0040006	Mortality/Aging	80222	TARS2	OMIM:615918
HP:0040006	Mortality/Aging	6392	SDHD	OMIM:619167
HP:0040006	Mortality/Aging	4726	NDUFS6	OMIM:618232
HP:0040006	Mortality/Aging	29078	NDUFAF4	OMIM:618237
HP:0040006	Mortality/Aging	5915	RARB	OMIM:615524
HP:0040006	Mortality/Aging	2733	GLE1	OMIM:253310
HP:0040006	Mortality/Aging	2733	GLE1	OMIM:611890
HP:0040006	Mortality/Aging	54539	NDUFB11	OMIM:301021
HP:0040006	Mortality/Aging	10606	PAICS	OMIM:619859
HP:0040006	Mortality/Aging	439	GET3	OMIM:620203
HP:0040006	Mortality/Aging	1509	CTSD	OMIM:610127
HP:0040006	Mortality/Aging	1910	EDNRB	OMIM:600501
HP:0040006	Mortality/Aging	55210	ATAD3A	OMIM:618810
HP:0040006	Mortality/Aging	4338	MOCS2	OMIM:252160
HP:0040006	Mortality/Aging	51021	MRPS16	OMIM:610498
HP:0040006	Mortality/Aging	2752	GLUL	OMIM:610015
HP:0040006	Mortality/Aging	2737	GLI3	OMIM:146510
HP:0040006	Mortality/Aging	29980	DONSON	OMIM:251230
HP:0040006	Mortality/Aging	6862	TBXT	OMIM:615709
HP:0040006	Mortality/Aging	8241	RBM10	OMIM:311900
HP:0040006	Mortality/Aging	5314	PKHD1	OMIM:263200
HP:0040006	Mortality/Aging	7547	ZIC3	OMIM:314390
HP:0040006	Mortality/Aging	4716	NDUFB10	OMIM:619003
HP:0040006	Mortality/Aging	27031	NPHP3	OMIM:208540
HP:0040006	Mortality/Aging	23396	PIP5K1C	OMIM:611369
HP:0040006	Mortality/Aging	79989	IFT56	OMIM:619534
HP:0040006	Mortality/Aging	442721	LMOD2	OMIM:619897
HP:0040006	Mortality/Aging	3655	ITGA6	OMIM:619817
HP:0040006	Mortality/Aging	55901	THSD1	OMIM:620244
HP:0040006	Mortality/Aging	10243	GPHN	OMIM:615501
HP:0040006	Mortality/Aging	27152	INTU	OMIM:617925
HP:0040006	Mortality/Aging	498	ATP5F1A	OMIM:615228
HP:0040006	Mortality/Aging	2108	ETFA	OMIM:231680
HP:0040006	Mortality/Aging	2109	ETFB	OMIM:231680
HP:0040006	Mortality/Aging	2110	ETFDH	OMIM:231680
HP:0040006	Mortality/Aging	2074	ERCC6	OMIM:133540
HP:0040006	Mortality/Aging	2074	ERCC6	OMIM:214150
HP:0040006	Mortality/Aging	1738	DLD	OMIM:246900
HP:0040006	Mortality/Aging	79717	PPCS	OMIM:618189
HP:0040006	Mortality/Aging	374291	NDUFS7	OMIM:618224
HP:0040006	Mortality/Aging	4723	NDUFV1	OMIM:618225
HP:0040006	Mortality/Aging	4574	MT-TS1	OMIM:220110
HP:0040006	Mortality/Aging	4570	MT-TN	OMIM:220110
HP:0040006	Mortality/Aging	6834	SURF1	OMIM:220110
HP:0040006	Mortality/Aging	8425	LTBP4	OMIM:613177
HP:0040006	Mortality/Aging	100151683	RNU4ATAC	OMIM:210710
HP:0040006	Mortality/Aging	201595	STT3B	OMIM:615597
HP:0040006	Mortality/Aging	51412	ACTL6B	OMIM:618468
HP:0040006	Mortality/Aging	4967	OGDH	OMIM:203740
HP:0040006	Mortality/Aging	10667	FARS2	OMIM:614946
HP:0040006	Mortality/Aging	5830	PEX5	OMIM:214110
HP:0040006	Mortality/Aging	10102	TSFM	OMIM:610505
HP:0040006	Mortality/Aging	197131	UBR1	OMIM:243800
HP:0040006	Mortality/Aging	55610	VPS50	OMIM:619685
HP:0040006	Mortality/Aging	3074	HEXB	OMIM:268800
HP:0040006	Mortality/Aging	23149	FCHO1	OMIM:619164
HP:0040006	Mortality/Aging	477	ATP1A2	OMIM:619605
HP:0040006	Mortality/Aging	1841	DTYMK	OMIM:619847
HP:0040006	Mortality/Aging	790	CAD	OMIM:616457
HP:0040006	Mortality/Aging	79631	EFL1	OMIM:617941
HP:0040006	Mortality/Aging	65082	VPS33A	OMIM:617303
HP:0040006	Mortality/Aging	2068	ERCC2	OMIM:610756
HP:0040006	Mortality/Aging	79158	GNPTAB	OMIM:252500
HP:0040006	Mortality/Aging	2067	ERCC1	OMIM:610758
HP:0040006	Mortality/Aging	5189	PEX1	OMIM:214100
HP:0040006	Mortality/Aging	79068	FTO	OMIM:612938
HP:0040006	Mortality/Aging	4784	NFIX	OMIM:602535
HP:0040006	Mortality/Aging	8647	ABCB11	OMIM:601847
HP:0040006	Mortality/Aging	4703	NEB	OMIM:619334
HP:0040006	Mortality/Aging	60561	RINT1	OMIM:618641
HP:0040006	Mortality/Aging	7084	TK2	OMIM:609560
HP:0040006	Mortality/Aging	23229	ARHGEF9	OMIM:300607
HP:0040006	Mortality/Aging	1801	DPH1	OMIM:616901
HP:0040006	Mortality/Aging	8792	TNFRSF11A	OMIM:612301
HP:0040006	Mortality/Aging	80746	TSEN2	OMIM:612389
HP:0040006	Mortality/Aging	55681	SCYL2	OMIM:618766
HP:0040006	Mortality/Aging	8772	FADD	OMIM:613759
HP:0040006	Mortality/Aging	3913	LAMB2	OMIM:609049
HP:0040006	Mortality/Aging	6606	SMN1	OMIM:253300
HP:0040006	Mortality/Aging	91647	ATPAF2	OMIM:604273
HP:0040006	Mortality/Aging	8802	SUCLG1	OMIM:245400
HP:0040006	Mortality/Aging	9377	COX5A	OMIM:619064
HP:0040006	Mortality/Aging	3155	HMGCL	OMIM:246450
HP:0040006	Mortality/Aging	22872	SEC31A	OMIM:618651
HP:0040006	Mortality/Aging	54968	TMEM70	OMIM:614052
HP:0040006	Mortality/Aging	497661	C18orf32	OMIM:619985
HP:0040006	Mortality/Aging	51300	TIMMDC1	OMIM:618251
HP:0040006	Mortality/Aging	7174	TPP2	OMIM:619220
HP:0040006	Mortality/Aging	4714	NDUFB8	OMIM:618252
HP:0040006	Mortality/Aging	6785	ELOVL4	OMIM:614457
HP:0040006	Mortality/Aging	113278	SLC52A3	OMIM:211530
HP:0040006	Mortality/Aging	1174	AP1S1	OMIM:609313
HP:0040006	Mortality/Aging	5373	PMM2	OMIM:212065
HP:0040006	Mortality/Aging	7490	WT1	OMIM:608978
HP:0040006	Mortality/Aging	11340	EXOSC8	OMIM:616081
HP:0040006	Mortality/Aging	57217	TTC7A	OMIM:243150
HP:0040006	Mortality/Aging	3852	KRT5	OMIM:619599
HP:0040006	Mortality/Aging	11222	MRPL3	OMIM:614582
HP:0040006	Mortality/Aging	1182	CLCN3	OMIM:619517
HP:0040006	Mortality/Aging	8021	NUP214	OMIM:618426
HP:0040006	Mortality/Aging	538	ATP7A	OMIM:309400
HP:0040006	Mortality/Aging	90624	LYRM7	OMIM:615838
HP:0040006	Mortality/Aging	84992	PIGY	OMIM:616809
HP:0040006	Mortality/Aging	51360	MBTPS2	OMIM:308205
HP:0040006	Mortality/Aging	2571	GAD1	OMIM:619124
HP:0040006	Mortality/Aging	374354	NHLRC2	OMIM:618278
HP:0040006	Mortality/Aging	128240	NAXE	OMIM:617186
HP:0040006	Mortality/Aging	10651	MTX2	OMIM:619127
HP:0040006	Mortality/Aging	57169	ZNFX1	OMIM:619644
HP:0040006	Mortality/Aging	60528	ELAC2	OMIM:615440
HP:0040006	Mortality/Aging	84340	GFM2	OMIM:618397
HP:0040006	Mortality/Aging	5788	PTPRC	OMIM:619924
HP:0040006	Mortality/Aging	440138	ALG11	OMIM:613661
HP:0040006	Mortality/Aging	28976	ACAD9	OMIM:611126
HP:0040006	Mortality/Aging	57038	RARS2	OMIM:611523
HP:0040006	Mortality/Aging	917	CD3G	OMIM:615607
HP:0040006	Mortality/Aging	57158	JPH2	OMIM:619492
HP:0040006	Mortality/Aging	4351	MPI	OMIM:602579
HP:0040006	Mortality/Aging	9342	SNAP29	OMIM:609528
HP:0040006	Mortality/Aging	10577	NPC2	OMIM:607625
HP:0040006	Mortality/Aging	5873	RAB27A	OMIM:607624
HP:0040006	Mortality/Aging	10084	PQBP1	OMIM:309500
HP:0040006	Mortality/Aging	55739	NAXD	OMIM:618321
HP:0040006	Mortality/Aging	5331	PLCB3	OMIM:618961
HP:0040006	Mortality/Aging	6324	SCN1B	OMIM:617350
HP:0040006	Mortality/Aging	26503	SLC17A5	OMIM:269920
HP:0040006	Mortality/Aging	9197	SLC33A1	OMIM:614482
HP:0040006	Mortality/Aging	6603	SMARCD2	OMIM:617475
HP:0040006	Mortality/Aging	79147	FKRP	OMIM:613153
HP:0040006	Mortality/Aging	111	ADCY5	OMIM:619651
HP:0040006	Mortality/Aging	84833	ATP5MK	OMIM:618683
HP:0040006	Mortality/Aging	27040	LAT	OMIM:617514
HP:0040006	Mortality/Aging	729920	CRPPA	OMIM:614643
HP:0040006	Mortality/Aging	29960	MRM2	OMIM:618567
HP:0040006	Mortality/Aging	55005	RMND1	OMIM:614922
HP:0040006	Mortality/Aging	283989	TSEN54	OMIM:277470
HP:0040006	Mortality/Aging	84153	RNASEH2C	OMIM:610329
HP:0040006	Mortality/Aging	5631	PRPS1	OMIM:300661
HP:0040006	Mortality/Aging	3909	LAMA3	OMIM:619784
HP:0040006	Mortality/Aging	57505	AARS2	OMIM:614096
HP:0040006	Mortality/Aging	3735	KARS1	OMIM:619147
HP:0040006	Mortality/Aging	10533	ATG7	OMIM:619422
HP:0040006	Mortality/Aging	56947	MFF	OMIM:617086
HP:0040006	Mortality/Aging	205327	C2orf69	OMIM:619423
HP:0040006	Mortality/Aging	18	ABAT	OMIM:613163
HP:0040006	Mortality/Aging	133686	NADK2	OMIM:616034
HP:0040006	Mortality/Aging	51025	PAM16	OMIM:613320
HP:0040006	Mortality/Aging	10535	RNASEH2A	OMIM:610333
HP:0040006	Mortality/Aging	871	SERPINH1	OMIM:613848
HP:0040006	Mortality/Aging	3930	LBR	OMIM:215140
HP:0040006	Mortality/Aging	8200	GDF5	OMIM:200700
HP:0040006	Mortality/Aging	9321	TRIP11	OMIM:200600
HP:0040006	Mortality/Aging	1836	SLC26A2	OMIM:600972
HP:0040006	Mortality/Aging	1836	SLC26A2	OMIM:256050
HP:0040006	Mortality/Aging	1280	COL2A1	OMIM:151210
HP:0040006	Mortality/Aging	1280	COL2A1	OMIM:200610
HP:0040006	Mortality/Aging	4593	MUSK	OMIM:208150
HP:0040006	Mortality/Aging	153241	CEP120	OMIM:616300
HP:0040006	Mortality/Aging	2629	GBA1	ORPHA:85212
HP:0040006	Mortality/Aging	50814	NSDHL	OMIM:308050
HP:0040006	Mortality/Aging	284086	NEK8	OMIM:615415
HP:0040006	Mortality/Aging	1063	CENPF	OMIM:243605
HP:0040006	Mortality/Aging	55165	CEP55	OMIM:236500
HP:0040006	Mortality/Aging	219844	HYLS1	OMIM:236680
HP:0040006	Mortality/Aging	5745	PTH1R	OMIM:215045
HP:0040006	Mortality/Aging	2317	FLNB	OMIM:108720
HP:0040006	Mortality/Aging	5447	POR	ORPHA:95699
HP:0040006	Mortality/Aging	28962	OSTM1	OMIM:259720
HP:0040006	Mortality/Aging	157570	ESCO2	OMIM:268300
HP:0040006	Mortality/Aging	10203	CALCRL	OMIM:618773
HP:0040006	Mortality/Aging	249	ALPL	OMIM:241500
HP:0040006	Mortality/Aging	5307	PITX1	OMIM:119800
HP:0040006	Mortality/Aging	1301	COL11A1	OMIM:228520
HP:0040006	Mortality/Aging	23426	GRIP1	OMIM:617667
HP:0040006	Mortality/Aging	2316	FLNA	OMIM:309350
HP:0040006	Mortality/Aging	2316	FLNA	OMIM:304120
HP:0040006	Mortality/Aging	163175	LGI4	OMIM:617468
HP:0040006	Mortality/Aging	23169	SLC35D1	OMIM:269250
HP:0040006	Mortality/Aging	26227	PHGDH	OMIM:256520
HP:0040006	Mortality/Aging	4352	MPL	ORPHA:71493
HP:0040006	Mortality/Aging	7066	THPO	ORPHA:71493
HP:0040006	Mortality/Aging	3717	JAK2	ORPHA:71493
HP:0040006	Mortality/Aging	2215	FCGR3B	ORPHA:464370
HP:0040006	Mortality/Aging	2022	ENG	OMIM:187300
HP:0040006	Mortality/Aging	199713	NLRP7	OMIM:231090
HP:0040006	Mortality/Aging	5889	RAD51C	OMIM:613390
HP:0040006	Mortality/Aging	4256	MGP	OMIM:245150
HP:0040006	Mortality/Aging	283677	REC114	OMIM:619176
HP:0040006	Mortality/Aging	7468	NSD2	OMIM:619695
HP:0040006	Mortality/Aging	3043	HBB	ORPHA:2133
HP:0040006	Mortality/Aging	5346	PLIN1	OMIM:613877
HP:0040006	Mortality/Aging	462	SERPINC1	ORPHA:82
HP:0040006	Mortality/Aging	2055	CLN8	ORPHA:1947
HP:0040006	Mortality/Aging	7486	WRN	ORPHA:902
HP:0040006	Mortality/Aging	274	BIN1	ORPHA:169189
HP:0040006	Mortality/Aging	64419	MTMR14	ORPHA:169189
HP:0040006	Mortality/Aging	4618	MYF6	ORPHA:169189
HP:0040006	Mortality/Aging	1785	DNM2	ORPHA:169189
HP:0040006	Mortality/Aging	6261	RYR1	ORPHA:169189
HP:0040006	Mortality/Aging	3209	HOXA13	ORPHA:2438
HP:0040006	Mortality/Aging	3339	HSPG2	ORPHA:1865
HP:0040006	Mortality/Aging	2243	FGA	ORPHA:98880
HP:0040006	Mortality/Aging	2244	FGB	ORPHA:98880
HP:0040006	Mortality/Aging	2266	FGG	ORPHA:98880
HP:0040006	Mortality/Aging	5054	SERPINE1	ORPHA:465
HP:0040006	Mortality/Aging	213	ALB	ORPHA:86816
HP:0040006	Mortality/Aging	388015	RTL1	ORPHA:96334
HP:0040006	Mortality/Aging	8788	DLK1	ORPHA:96334
HP:0040006	Mortality/Aging	55384	MEG3	ORPHA:96334
HP:0040006	Mortality/Aging	6005	RHAG	ORPHA:71275
HP:0040006	Mortality/Aging	6006	RHCE	ORPHA:71275
HP:0040006	Mortality/Aging	6007	RHD	ORPHA:71275
HP:0040006	Mortality/Aging	1832	DSP	OMIM:605676
HP:0040006	Mortality/Aging	3572	IL6ST	OMIM:619751
HP:0040006	Mortality/Aging	1351	COX8A	OMIM:619059
HP:0040006	Mortality/Aging	8567	MADD	OMIM:619004
HP:0040006	Mortality/Aging	149371	EXOC8	OMIM:619076
HP:0040006	Mortality/Aging	4938	OAS1	OMIM:618042
HP:0040006	Mortality/Aging	84879	MFSD2A	OMIM:616486
HP:0040006	Mortality/Aging	100131801	PET100	OMIM:619055
HP:0040006	Mortality/Aging	7167	TPI1	OMIM:615512
HP:0040006	Mortality/Aging	10892	MALT1	OMIM:615468
HP:0040006	Mortality/Aging	2670	GFAP	OMIM:203450
HP:0040006	Mortality/Aging	2273	FHL1	OMIM:300717
HP:0040006	Mortality/Aging	5828	PEX2	OMIM:614866
HP:0040006	Mortality/Aging	88	ACTN2	OMIM:612158
HP:0040006	Mortality/Aging	6304	SATB1	OMIM:619229
HP:0040006	Mortality/Aging	29969	MDFIC	OMIM:620014
HP:0040006	Mortality/Aging	5696	PSMB8	OMIM:256040
HP:0040006	Mortality/Aging	79751	SLC25A22	OMIM:609304
HP:0040006	Mortality/Aging	2072	ERCC4	OMIM:610965
HP:0040006	Mortality/Aging	50964	SOST	OMIM:122860
HP:0040006	Mortality/Aging	4624	MYH6	OMIM:613251
HP:0040006	Mortality/Aging	7137	TNNI3	OMIM:613286
HP:0040006	Mortality/Aging	4927	NUP88	OMIM:618393
HP:0040006	Mortality/Aging	60	ACTB	ORPHA:79107
HP:0040006	Mortality/Aging	4072	EPCAM	ORPHA:144
HP:0040006	Mortality/Aging	4292	MLH1	ORPHA:144
HP:0040006	Mortality/Aging	5395	PMS2	ORPHA:144
HP:0040006	Mortality/Aging	27030	MLH3	ORPHA:144
HP:0040006	Mortality/Aging	22909	FAN1	ORPHA:144
HP:0040006	Mortality/Aging	7048	TGFBR2	ORPHA:144
HP:0040006	Mortality/Aging	3845	KRAS	ORPHA:144
HP:0040006	Mortality/Aging	5290	PIK3CA	ORPHA:144
HP:0040006	Mortality/Aging	2956	MSH6	ORPHA:144
HP:0040006	Mortality/Aging	5378	PMS1	ORPHA:144
HP:0040006	Mortality/Aging	4436	MSH2	ORPHA:144
HP:0040006	Mortality/Aging	27183	VPS4A	OMIM:619273
HP:0040006	Mortality/Aging	6329	SCN4A	ORPHA:682
HP:0040006	Mortality/Aging	10269	ZMPSTE24	OMIM:608612
HP:0040006	Mortality/Aging	6197	RPS6KA3	ORPHA:192
HP:0040006	Mortality/Aging	3918	LAMC2	OMIM:619786
HP:0040006	Mortality/Aging	351	APP	ORPHA:100006
HP:0040006	Mortality/Aging	10479	SLC9A6	ORPHA:85278
HP:0040006	Mortality/Aging	1471	CST3	ORPHA:100008
HP:0040006	Mortality/Aging	6804	STX1A	ORPHA:904
HP:0040006	Mortality/Aging	7461	CLIP2	ORPHA:904
HP:0040006	Mortality/Aging	84277	DNAJC30	ORPHA:904
HP:0040006	Mortality/Aging	8468	FKBP6	ORPHA:904
HP:0040006	Mortality/Aging	5982	RFC2	ORPHA:904
HP:0040006	Mortality/Aging	2969	GTF2I	ORPHA:904
HP:0040006	Mortality/Aging	3984	LIMK1	ORPHA:904
HP:0040006	Mortality/Aging	9569	GTF2IRD1	ORPHA:904
HP:0040006	Mortality/Aging	155382	VPS37D	ORPHA:904
HP:0040006	Mortality/Aging	155368	METTL27	ORPHA:904
HP:0040006	Mortality/Aging	114049	BUD23	ORPHA:904
HP:0040006	Mortality/Aging	7458	EIF4H	ORPHA:904
HP:0040006	Mortality/Aging	84163	GTF2IRD2	ORPHA:904
HP:0040006	Mortality/Aging	9275	BCL7B	ORPHA:904
HP:0040006	Mortality/Aging	26608	TBL2	ORPHA:904
HP:0040006	Mortality/Aging	653361	NCF1	ORPHA:904
HP:0040006	Mortality/Aging	135886	TMEM270	ORPHA:904
HP:0040006	Mortality/Aging	51085	MLXIPL	ORPHA:904
HP:0040006	Mortality/Aging	9031	BAZ1B	ORPHA:904
HP:0040006	Mortality/Aging	2006	ELN	ORPHA:904
HP:0040006	Mortality/Aging	4625	MYH7	OMIM:255160
HP:0040006	Mortality/Aging	1890	TYMP	OMIM:603041
HP:0040006	Mortality/Aging	5428	POLG	OMIM:603041
HP:0040006	Mortality/Aging	617	BCS1L	ORPHA:53693
HP:0040006	Mortality/Aging	55703	POLR3B	OMIM:607694
HP:0040006	Mortality/Aging	11128	POLR3A	OMIM:607694
HP:0040007	Absent pigmentation of chest	3815	KIT	OMIM:172800
HP:0040008	Aplasia of facial bones	1896	EDA	OMIM:313500
HP:0040008	Aplasia of facial bones	6496	SIX3	OMIM:157170
HP:0040009	Hyperparakeratosis	5290	PIK3CA	ORPHA:276280
HP:0040009	Hyperparakeratosis	3860	KRT13	OMIM:615785
HP:0040009	Hyperparakeratosis	3858	KRT10	OMIM:607602
HP:0040009	Hyperparakeratosis	162514	TRPV3	OMIM:614594
HP:0034593	Elevated circulating dihydrouracil concentration	1807	DPYS	OMIM:222748
HP:0034595	Elevated circulating N-carbamyl-beta-alanine concentration	51733	UPB1	OMIM:613161
HP:0040010	Small posterior fossa	22943	DKK1	ORPHA:268882
HP:0040010	Small posterior fossa	80199	FUZ	ORPHA:1136
HP:0040010	Small posterior fossa	4361	MRE11	ORPHA:251347
HP:0040010	Small posterior fossa	129685	TAF8	OMIM:619972
HP:0040010	Small posterior fossa	6658	SOX3	ORPHA:67045
HP:0040012	Chromosome breakage	2188	FANCF	OMIM:603467
HP:0040012	Chromosome breakage	675	BRCA2	OMIM:605724
HP:0040012	Chromosome breakage	2177	FANCD2	OMIM:227646
HP:0040012	Chromosome breakage	1327	COX4I1	OMIM:619060
HP:0040012	Chromosome breakage	2176	FANCC	OMIM:227645
HP:0040012	Chromosome breakage	2178	FANCE	OMIM:600901
HP:0040012	Chromosome breakage	55120	FANCL	OMIM:614083
HP:0040012	Chromosome breakage	5888	RAD51	OMIM:617244
HP:0040012	Chromosome breakage	2175	FANCA	OMIM:227650
HP:0040012	Chromosome breakage	10459	MAD2L2	OMIM:617243
HP:0040012	Chromosome breakage	55215	FANCI	OMIM:609053
HP:0040012	Chromosome breakage	29089	UBE2T	OMIM:616435
HP:0040012	Chromosome breakage	83990	BRIP1	OMIM:609054
HP:0040012	Chromosome breakage	84464	SLX4	OMIM:613951
HP:0040012	Chromosome breakage	79728	PALB2	OMIM:610832
HP:0040012	Chromosome breakage	64858	DCLRE1B	OMIM:620133
HP:0040012	Chromosome breakage	2332	FMR1	ORPHA:908
HP:0040012	Chromosome breakage	2332	FMR1	OMIM:300624
HP:0040012	Chromosome breakage	84548	TMEM185A	ORPHA:100974
HP:0040012	Chromosome breakage	10111	RAD50	OMIM:613078
HP:0040012	Chromosome breakage	8314	BAP1	ORPHA:2495
HP:0040012	Chromosome breakage	4771	NF2	ORPHA:2495
HP:0040012	Chromosome breakage	6598	SMARCB1	ORPHA:2495
HP:0040012	Chromosome breakage	5155	PDGFB	ORPHA:2495
HP:0040012	Chromosome breakage	84231	TRAF7	ORPHA:2495
HP:0040012	Chromosome breakage	6608	SMO	ORPHA:2495
HP:0040012	Chromosome breakage	207	AKT1	ORPHA:2495
HP:0040012	Chromosome breakage	5290	PIK3CA	ORPHA:2495
HP:0040012	Chromosome breakage	7015	TERT	ORPHA:2495
HP:0040012	Chromosome breakage	51684	SUFU	ORPHA:2495
HP:0040012	Chromosome breakage	6605	SMARCE1	ORPHA:2495
HP:0040012	Chromosome breakage	165918	RNF168	ORPHA:420741
HP:0040012	Chromosome breakage	641	BLM	OMIM:210900
HP:0040012	Chromosome breakage	7516	XRCC2	OMIM:617247
HP:0040012	Chromosome breakage	2072	ERCC4	OMIM:615272
HP:0040012	Chromosome breakage	5889	RAD51C	OMIM:613390
HP:0040012	Chromosome breakage	134218	DNAJC21	OMIM:617052
HP:0040012	Chromosome breakage	4173	MCM4	OMIM:609981
HP:0040012	Chromosome breakage	672	BRCA1	OMIM:617883
HP:0040013	Decreased mitochondrial number	1763	DNA2	ORPHA:352470
HP:0040013	Decreased mitochondrial number	92667	MGME1	ORPHA:352447
HP:0040014	Increased mitochondrial number	119559	SFXN4	OMIM:615578
HP:0040014	Increased mitochondrial number	100303755	PET117	OMIM:619063
HP:0040014	Increased mitochondrial number	400916	CHCHD10	ORPHA:457050
HP:0040014	Increased mitochondrial number	2992	GYG1	ORPHA:263297
HP:0040016	Prominent coccyx	6913	TBX15	OMIM:260660
HP:0040016	Prominent coccyx	10584	COLEC10	ORPHA:293843
HP:0040016	Prominent coccyx	5648	MASP1	ORPHA:293843
HP:0040016	Prominent coccyx	78989	COLEC11	ORPHA:293843
HP:0040016	Prominent coccyx	6872	TAF1	OMIM:300966
HP:0040016	Prominent coccyx	285590	SH3PXD2B	OMIM:249420
HP:0040017	Protruding coccyx	6872	TAF1	ORPHA:480907
HP:0040017	Protruding coccyx	6872	TAF1	OMIM:300966
HP:0040017	Protruding coccyx	6913	TBX15	OMIM:260660
HP:0040019	Finger clinodactyly	11253	MAN1B1	ORPHA:397941
HP:0040019	Finger clinodactyly	11253	MAN1B1	OMIM:614202
HP:0040019	Finger clinodactyly	340533	NEXMIF	OMIM:300912
HP:0040019	Finger clinodactyly	1139	CHRNA7	ORPHA:199318
HP:0040019	Finger clinodactyly	1139	CHRNA7	OMIM:612001
HP:0040019	Finger clinodactyly	2132	EXT2	OMIM:616682
HP:0040019	Finger clinodactyly	23135	KDM6B	OMIM:618505
HP:0040019	Finger clinodactyly	6659	SOX4	OMIM:618506
HP:0040019	Finger clinodactyly	1947	EFNB1	ORPHA:1520
HP:0040019	Finger clinodactyly	1947	EFNB1	OMIM:304110
HP:0040019	Finger clinodactyly	4010	LMX1B	ORPHA:2614
HP:0040019	Finger clinodactyly	4010	LMX1B	OMIM:161200
HP:0040019	Finger clinodactyly	10054	UBA2	OMIM:619959
HP:0040019	Finger clinodactyly	51126	NAA20	OMIM:619717
HP:0040019	Finger clinodactyly	2972	BRF1	OMIM:616202
HP:0040019	Finger clinodactyly	2263	FGFR2	OMIM:149730
HP:0040019	Finger clinodactyly	2263	FGFR2	OMIM:101400
HP:0040019	Finger clinodactyly	2263	FGFR2	ORPHA:794
HP:0040019	Finger clinodactyly	9820	CUL7	ORPHA:2616
HP:0040019	Finger clinodactyly	9820	CUL7	OMIM:273750
HP:0040019	Finger clinodactyly	23363	OBSL1	ORPHA:2616
HP:0040019	Finger clinodactyly	83987	CCDC8	ORPHA:2616
HP:0040019	Finger clinodactyly	83987	CCDC8	OMIM:614205
HP:0040019	Finger clinodactyly	7021	TFAP2B	OMIM:169100
HP:0040019	Finger clinodactyly	7021	TFAP2B	ORPHA:46627
HP:0040019	Finger clinodactyly	7021	TFAP2B	OMIM:617035
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:231140
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:231144
HP:0040019	Finger clinodactyly	3481	IGF2	OMIM:616489
HP:0040019	Finger clinodactyly	3481	IGF2	OMIM:180860
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:397590
HP:0040019	Finger clinodactyly	283120	H19	ORPHA:231140
HP:0040019	Finger clinodactyly	283120	H19	ORPHA:231144
HP:0040019	Finger clinodactyly	197131	UBR1	OMIM:243800
HP:0040019	Finger clinodactyly	5932	RBBP8	OMIM:606744
HP:0040019	Finger clinodactyly	5932	RBBP8	ORPHA:808
HP:0040019	Finger clinodactyly	3021	H3-3B	OMIM:619721
HP:0040019	Finger clinodactyly	126792	B3GALT6	ORPHA:2725
HP:0040019	Finger clinodactyly	4286	MITF	OMIM:617306
HP:0040019	Finger clinodactyly	23384	SPECC1L	ORPHA:1519
HP:0040019	Finger clinodactyly	57539	WDR35	ORPHA:1515
HP:0040019	Finger clinodactyly	112752	IFT43	ORPHA:1515
HP:0040019	Finger clinodactyly	51098	IFT52	ORPHA:1515
HP:0040019	Finger clinodactyly	55764	IFT122	ORPHA:1515
HP:0040019	Finger clinodactyly	57728	WDR19	ORPHA:1515
HP:0040019	Finger clinodactyly	55636	CHD7	ORPHA:138
HP:0040019	Finger clinodactyly	9723	SEMA3E	ORPHA:138
HP:0040019	Finger clinodactyly	90	ACVR1	OMIM:135100
HP:0040019	Finger clinodactyly	90	ACVR1	ORPHA:337
HP:0040019	Finger clinodactyly	3190	HNRNPK	OMIM:616580
HP:0040019	Finger clinodactyly	54880	BCOR	ORPHA:2712
HP:0040019	Finger clinodactyly	54880	BCOR	ORPHA:568
HP:0040019	Finger clinodactyly	10606	PAICS	OMIM:619859
HP:0040019	Finger clinodactyly	1009	CDH11	OMIM:619736
HP:0040019	Finger clinodactyly	64359	NXN	ORPHA:1507
HP:0040019	Finger clinodactyly	4920	ROR2	ORPHA:1507
HP:0040019	Finger clinodactyly	2697	GJA1	ORPHA:2710
HP:0040019	Finger clinodactyly	7020	TFAP2A	OMIM:113620
HP:0040019	Finger clinodactyly	727857	BHLHA9	ORPHA:157801
HP:0040019	Finger clinodactyly	727857	BHLHA9	OMIM:609432
HP:0040019	Finger clinodactyly	652	BMP4	OMIM:607932
HP:0040019	Finger clinodactyly	4297	KMT2A	ORPHA:319182
HP:0040019	Finger clinodactyly	4297	KMT2A	OMIM:605130
HP:0040019	Finger clinodactyly	23327	NEDD4L	OMIM:617201
HP:0040019	Finger clinodactyly	7291	TWIST1	OMIM:101400
HP:0040019	Finger clinodactyly	7291	TWIST1	ORPHA:794
HP:0040019	Finger clinodactyly	2783	GNB2	OMIM:619503
HP:0040019	Finger clinodactyly	3981	LIG4	ORPHA:235
HP:0040019	Finger clinodactyly	3981	LIG4	ORPHA:99812
HP:0040019	Finger clinodactyly	3981	LIG4	OMIM:606593
HP:0040019	Finger clinodactyly	54888	NSUN2	ORPHA:235
HP:0040019	Finger clinodactyly	1182	CLCN3	OMIM:619512
HP:0040019	Finger clinodactyly	85301	COL27A1	OMIM:615155
HP:0040019	Finger clinodactyly	5048	PAFAH1B1	ORPHA:217385
HP:0040019	Finger clinodactyly	5048	PAFAH1B1	ORPHA:531
HP:0040019	Finger clinodactyly	7531	YWHAE	ORPHA:217385
HP:0040019	Finger clinodactyly	7531	YWHAE	ORPHA:531
HP:0040019	Finger clinodactyly	2121	EVC	OMIM:193530
HP:0040019	Finger clinodactyly	2121	EVC	ORPHA:952
HP:0040019	Finger clinodactyly	132884	EVC2	OMIM:193530
HP:0040019	Finger clinodactyly	132884	EVC2	ORPHA:952
HP:0040019	Finger clinodactyly	8364	H4C3	OMIM:619758
HP:0040019	Finger clinodactyly	5590	PRKCZ	ORPHA:1606
HP:0040019	Finger clinodactyly	2563	GABRD	ORPHA:1606
HP:0040019	Finger clinodactyly	23013	SPEN	ORPHA:1606
HP:0040019	Finger clinodactyly	8510	MMP23B	ORPHA:1606
HP:0040019	Finger clinodactyly	7798	LUZP1	ORPHA:1606
HP:0040019	Finger clinodactyly	6497	SKI	ORPHA:1606
HP:0040019	Finger clinodactyly	10630	PDPN	ORPHA:1606
HP:0040019	Finger clinodactyly	3339	HSPG2	ORPHA:1606
HP:0040019	Finger clinodactyly	10277	UBE4B	ORPHA:1606
HP:0040019	Finger clinodactyly	8514	KCNAB2	ORPHA:1606
HP:0040019	Finger clinodactyly	473	RERE	ORPHA:1606
HP:0040019	Finger clinodactyly	473	RERE	OMIM:616975
HP:0040019	Finger clinodactyly	63976	PRDM16	ORPHA:1606
HP:0040019	Finger clinodactyly	54897	CASZ1	ORPHA:1606
HP:0040019	Finger clinodactyly	6134	RPL10	ORPHA:459070
HP:0040019	Finger clinodactyly	6134	RPL10	OMIM:300998
HP:0040019	Finger clinodactyly	7750	ZMYM2	OMIM:619522
HP:0040019	Finger clinodactyly	4849	CNOT3	OMIM:618672
HP:0040019	Finger clinodactyly	6942	TCF20	OMIM:618430
HP:0040019	Finger clinodactyly	641	BLM	OMIM:210900
HP:0040019	Finger clinodactyly	57492	ARID1B	ORPHA:251056
HP:0040019	Finger clinodactyly	57492	ARID1B	OMIM:135900
HP:0040019	Finger clinodactyly	63895	PIEZO2	ORPHA:376
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:576283
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:251028
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:251019
HP:0040019	Finger clinodactyly	2239	GPC4	ORPHA:373
HP:0040019	Finger clinodactyly	2239	GPC4	ORPHA:2662
HP:0040019	Finger clinodactyly	2719	GPC3	ORPHA:373
HP:0040019	Finger clinodactyly	23162	MAPK8IP3	OMIM:618443
HP:0040019	Finger clinodactyly	8200	GDF5	OMIM:615298
HP:0040019	Finger clinodactyly	8200	GDF5	OMIM:112600
HP:0040019	Finger clinodactyly	8200	GDF5	ORPHA:93396
HP:0040019	Finger clinodactyly	8200	GDF5	ORPHA:3250
HP:0040019	Finger clinodactyly	8200	GDF5	ORPHA:93384
HP:0040019	Finger clinodactyly	8200	GDF5	ORPHA:93388
HP:0040019	Finger clinodactyly	8200	GDF5	OMIM:113100
HP:0040019	Finger clinodactyly	23483	TGDS	OMIM:616145
HP:0040019	Finger clinodactyly	23483	TGDS	ORPHA:1388
HP:0040019	Finger clinodactyly	57479	PRR12	OMIM:619539
HP:0040019	Finger clinodactyly	25836	NIPBL	OMIM:122470
HP:0040019	Finger clinodactyly	25836	NIPBL	ORPHA:199
HP:0040019	Finger clinodactyly	2317	FLNB	OMIM:272460
HP:0040019	Finger clinodactyly	79087	ALG12	ORPHA:79324
HP:0040019	Finger clinodactyly	6473	SHOX	ORPHA:240
HP:0040019	Finger clinodactyly	1387	CREBBP	OMIM:618332
HP:0040019	Finger clinodactyly	1387	CREBBP	OMIM:180849
HP:0040019	Finger clinodactyly	26100	WIPI2	OMIM:618453
HP:0040019	Finger clinodactyly	10533	ATG7	OMIM:619422
HP:0040019	Finger clinodactyly	8295	TRRAP	OMIM:618454
HP:0040019	Finger clinodactyly	7227	TRPS1	ORPHA:77258
HP:0040019	Finger clinodactyly	2261	FGFR3	ORPHA:794
HP:0040019	Finger clinodactyly	9949	AMMECR1	OMIM:300990
HP:0040019	Finger clinodactyly	3479	IGF1	ORPHA:73272
HP:0040019	Finger clinodactyly	3479	IGF1	OMIM:608747
HP:0040019	Finger clinodactyly	658	BMPR1B	OMIM:112600
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93396
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93384
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93388
HP:0040019	Finger clinodactyly	658	BMPR1B	OMIM:616849
HP:0040019	Finger clinodactyly	650	BMP2	OMIM:112600
HP:0040019	Finger clinodactyly	650	BMP2	ORPHA:93396
HP:0040019	Finger clinodactyly	650	BMP2	OMIM:617877
HP:0040019	Finger clinodactyly	22827	PUF60	ORPHA:508498
HP:0040019	Finger clinodactyly	22827	PUF60	ORPHA:508488
HP:0040019	Finger clinodactyly	6477	SIAH1	OMIM:619314
HP:0040019	Finger clinodactyly	8473	OGT	OMIM:300997
HP:0040019	Finger clinodactyly	10785	WDR4	OMIM:618347
HP:0040019	Finger clinodactyly	1798	DPAGT1	OMIM:608093
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	OMIM:226960
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	OMIM:616651
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0040019	Finger clinodactyly	55869	HDAC8	OMIM:300882
HP:0040019	Finger clinodactyly	55869	HDAC8	ORPHA:199
HP:0040019	Finger clinodactyly	117581	TWIST2	OMIM:200110
HP:0040019	Finger clinodactyly	117581	TWIST2	OMIM:209885
HP:0040019	Finger clinodactyly	23030	KDM4B	OMIM:619320
HP:0040019	Finger clinodactyly	9126	SMC3	OMIM:610759
HP:0040019	Finger clinodactyly	9126	SMC3	ORPHA:199
HP:0040019	Finger clinodactyly	1725	DHPS	OMIM:618480
HP:0040019	Finger clinodactyly	55777	MBD5	OMIM:156200
HP:0040019	Finger clinodactyly	55777	MBD5	ORPHA:228402
HP:0040019	Finger clinodactyly	5980	REV3L	ORPHA:570
HP:0040019	Finger clinodactyly	23129	PLXND1	ORPHA:570
HP:0040019	Finger clinodactyly	4784	NFIX	OMIM:602535
HP:0040019	Finger clinodactyly	4998	ORC1	OMIM:224690
HP:0040019	Finger clinodactyly	4998	ORC1	ORPHA:2554
HP:0040019	Finger clinodactyly	4052	LTBP1	OMIM:619451
HP:0040019	Finger clinodactyly	8260	NAA10	OMIM:300855
HP:0040019	Finger clinodactyly	8260	NAA10	ORPHA:568
HP:0040019	Finger clinodactyly	7468	NSD2	OMIM:619695
HP:0040019	Finger clinodactyly	9496	TBX4	ORPHA:261279
HP:0040019	Finger clinodactyly	8091	HMGA2	ORPHA:94063
HP:0040019	Finger clinodactyly	8091	HMGA2	ORPHA:397590
HP:0040019	Finger clinodactyly	23592	LEMD3	ORPHA:94063
HP:0040019	Finger clinodactyly	164	AP1G1	OMIM:619467
HP:0040019	Finger clinodactyly	5283	PIGH	OMIM:618010
HP:0040019	Finger clinodactyly	50801	KCNK4	OMIM:618381
HP:0040019	Finger clinodactyly	9757	KMT2B	ORPHA:589618
HP:0040019	Finger clinodactyly	4613	MYCN	ORPHA:391641
HP:0040019	Finger clinodactyly	57003	CCDC47	OMIM:618268
HP:0040019	Finger clinodactyly	8812	CCNK	OMIM:618147
HP:0040019	Finger clinodactyly	5977	DPF2	OMIM:618027
HP:0040019	Finger clinodactyly	29895	MYL11	OMIM:619110
HP:0040019	Finger clinodactyly	94005	PIGS	OMIM:618143
HP:0040019	Finger clinodactyly	145173	B3GLCT	OMIM:261540
HP:0040019	Finger clinodactyly	145173	B3GLCT	ORPHA:709
HP:0040019	Finger clinodactyly	2033	EP300	OMIM:180849
HP:0040019	Finger clinodactyly	92002	CCNQ	OMIM:300707
HP:0040019	Finger clinodactyly	92002	CCNQ	ORPHA:140952
HP:0040019	Finger clinodactyly	285590	SH3PXD2B	ORPHA:137834
HP:0040019	Finger clinodactyly	80036	TRPM3	OMIM:620224
HP:0040019	Finger clinodactyly	526	ATP6V1B2	ORPHA:79500
HP:0040019	Finger clinodactyly	57465	TBC1D24	ORPHA:79500
HP:0040019	Finger clinodactyly	57465	TBC1D24	OMIM:220500
HP:0040019	Finger clinodactyly	5728	PTEN	ORPHA:744
HP:0040019	Finger clinodactyly	207	AKT1	ORPHA:744
HP:0040019	Finger clinodactyly	2887	GRB10	ORPHA:96182
HP:0040019	Finger clinodactyly	1457	CSNK2A1	OMIM:617062
HP:0040019	Finger clinodactyly	7204	TRIO	OMIM:617061
HP:0040019	Finger clinodactyly	7204	TRIO	ORPHA:476126
HP:0040019	Finger clinodactyly	51715	RAB23	OMIM:201000
HP:0040019	Finger clinodactyly	28952	CCDC22	OMIM:300963
HP:0040019	Finger clinodactyly	90416	CCDC32	OMIM:619123
HP:0040019	Finger clinodactyly	8450	CUL4B	ORPHA:85293
HP:0040019	Finger clinodactyly	55717	WDR11	OMIM:620237
HP:0040019	Finger clinodactyly	6299	SALL1	ORPHA:857
HP:0040019	Finger clinodactyly	51339	DACT1	ORPHA:857
HP:0040019	Finger clinodactyly	118924	FRA10AC1	OMIM:620113
HP:0040019	Finger clinodactyly	22995	CEP152	OMIM:613823
HP:0040019	Finger clinodactyly	22995	CEP152	ORPHA:808
HP:0040019	Finger clinodactyly	3549	IHH	OMIM:112500
HP:0040019	Finger clinodactyly	3549	IHH	ORPHA:93388
HP:0040019	Finger clinodactyly	3090	HIC1	ORPHA:531
HP:0040019	Finger clinodactyly	10436	EMG1	OMIM:211180
HP:0040019	Finger clinodactyly	10436	EMG1	ORPHA:1270
HP:0040019	Finger clinodactyly	23387	SIK3	OMIM:618162
HP:0040019	Finger clinodactyly	10084	PQBP1	OMIM:309500
HP:0040019	Finger clinodactyly	5745	PTH1R	OMIM:156400
HP:0040019	Finger clinodactyly	89970	RSPRY1	ORPHA:457395
HP:0040019	Finger clinodactyly	9487	PIGL	OMIM:280000
HP:0040019	Finger clinodactyly	22800	RRAS2	ORPHA:648
HP:0040019	Finger clinodactyly	867	CBL	ORPHA:648
HP:0040019	Finger clinodactyly	8216	LZTR1	ORPHA:648
HP:0040019	Finger clinodactyly	6016	RIT1	ORPHA:648
HP:0040019	Finger clinodactyly	6237	RRAS	ORPHA:648
HP:0040019	Finger clinodactyly	5894	RAF1	ORPHA:648
HP:0040019	Finger clinodactyly	22808	MRAS	ORPHA:648
HP:0040019	Finger clinodactyly	3845	KRAS	ORPHA:648
HP:0040019	Finger clinodactyly	200734	SPRED2	ORPHA:648
HP:0040019	Finger clinodactyly	4893	NRAS	ORPHA:648
HP:0040019	Finger clinodactyly	6654	SOS1	ORPHA:648
HP:0040019	Finger clinodactyly	6655	SOS2	ORPHA:648
HP:0040019	Finger clinodactyly	5781	PTPN11	ORPHA:648
HP:0040019	Finger clinodactyly	5922	RASA2	ORPHA:648
HP:0040019	Finger clinodactyly	23522	KAT6B	ORPHA:3047
HP:0040019	Finger clinodactyly	6913	TBX15	OMIM:260660
HP:0040019	Finger clinodactyly	79023	NUP37	OMIM:618179
HP:0040019	Finger clinodactyly	375056	MIA3	OMIM:619269
HP:0040019	Finger clinodactyly	27161	AGO2	OMIM:619149
HP:0040019	Finger clinodactyly	5567	PRKACB	OMIM:619143
HP:0040019	Finger clinodactyly	221927	BRAT1	OMIM:618056
HP:0040019	Finger clinodactyly	8823	FGF16	OMIM:309630
HP:0040019	Finger clinodactyly	5518	PPP2R1A	ORPHA:457284
HP:0040019	Finger clinodactyly	161742	SPRED1	ORPHA:137605
HP:0040019	Finger clinodactyly	7337	UBE3A	ORPHA:238446
HP:0040019	Finger clinodactyly	1832	DSP	ORPHA:158687
HP:0040019	Finger clinodactyly	1832	DSP	OMIM:609638
HP:0040019	Finger clinodactyly	3728	JUP	ORPHA:158687
HP:0040019	Finger clinodactyly	23241	PACS2	OMIM:618067
HP:0040019	Finger clinodactyly	26128	KIFBP	OMIM:609460
HP:0040019	Finger clinodactyly	23556	PIGN	ORPHA:2059
HP:0040019	Finger clinodactyly	5885	RAD21	OMIM:614701
HP:0040019	Finger clinodactyly	5885	RAD21	ORPHA:199
HP:0040019	Finger clinodactyly	673	BRAF	OMIM:115150
HP:0040019	Finger clinodactyly	7518	XRCC4	ORPHA:99812
HP:0040019	Finger clinodactyly	3209	HOXA13	OMIM:140000
HP:0040019	Finger clinodactyly	3209	HOXA13	ORPHA:2438
HP:0040019	Finger clinodactyly	8854	ALDH1A2	OMIM:620025
HP:0040019	Finger clinodactyly	10274	STAG1	ORPHA:502434
HP:0040019	Finger clinodactyly	9241	NOG	ORPHA:3250
HP:0040019	Finger clinodactyly	9241	NOG	OMIM:186500
HP:0040019	Finger clinodactyly	3239	HOXD13	OMIM:186000
HP:0040019	Finger clinodactyly	3239	HOXD13	ORPHA:93406
HP:0040019	Finger clinodactyly	374654	KIF7	OMIM:200990
HP:0040019	Finger clinodactyly	613	BCR	ORPHA:261330
HP:0040019	Finger clinodactyly	1399	CRKL	ORPHA:261330
HP:0040019	Finger clinodactyly	5594	MAPK1	ORPHA:261330
HP:0040019	Finger clinodactyly	89910	UBE3B	OMIM:244450
HP:0040019	Finger clinodactyly	2314	FLII	ORPHA:819
HP:0040019	Finger clinodactyly	23096	IQSEC2	ORPHA:819
HP:0040019	Finger clinodactyly	10743	RAI1	ORPHA:819
HP:0040019	Finger clinodactyly	10522	DEAF1	ORPHA:819
HP:0040019	Finger clinodactyly	150468	CKAP2L	ORPHA:3255
HP:0040019	Finger clinodactyly	6595	SMARCA2	OMIM:619293
HP:0040019	Finger clinodactyly	672	BRCA1	ORPHA:84
HP:0040019	Finger clinodactyly	10459	MAD2L2	ORPHA:84
HP:0040019	Finger clinodactyly	7516	XRCC2	ORPHA:84
HP:0040019	Finger clinodactyly	29089	UBE2T	ORPHA:84
HP:0040019	Finger clinodactyly	675	BRCA2	ORPHA:84
HP:0040019	Finger clinodactyly	55120	FANCL	ORPHA:84
HP:0040019	Finger clinodactyly	2177	FANCD2	ORPHA:84
HP:0040019	Finger clinodactyly	2175	FANCA	ORPHA:84
HP:0040019	Finger clinodactyly	2187	FANCB	ORPHA:84
HP:0040019	Finger clinodactyly	2176	FANCC	ORPHA:84
HP:0040019	Finger clinodactyly	2178	FANCE	ORPHA:84
HP:0040019	Finger clinodactyly	2188	FANCF	ORPHA:84
HP:0040019	Finger clinodactyly	2189	FANCG	ORPHA:84
HP:0040019	Finger clinodactyly	5888	RAD51	ORPHA:84
HP:0040019	Finger clinodactyly	5889	RAD51C	ORPHA:84
HP:0040019	Finger clinodactyly	55159	RFWD3	ORPHA:84
HP:0040019	Finger clinodactyly	83990	BRIP1	ORPHA:84
HP:0040019	Finger clinodactyly	57697	FANCM	ORPHA:84
HP:0040019	Finger clinodactyly	79728	PALB2	ORPHA:84
HP:0040019	Finger clinodactyly	84464	SLX4	ORPHA:84
HP:0040019	Finger clinodactyly	2072	ERCC4	ORPHA:84
HP:0040019	Finger clinodactyly	55215	FANCI	ORPHA:84
HP:0040019	Finger clinodactyly	546	ATRX	ORPHA:847
HP:0040019	Finger clinodactyly	84823	LMNB2	OMIM:619180
HP:0040019	Finger clinodactyly	9184	BUB3	ORPHA:1052
HP:0040019	Finger clinodactyly	699	BUB1	ORPHA:1052
HP:0040019	Finger clinodactyly	699	BUB1	OMIM:620183
HP:0040019	Finger clinodactyly	9702	CEP57	ORPHA:1052
HP:0040019	Finger clinodactyly	9702	CEP57	OMIM:614114
HP:0040019	Finger clinodactyly	9319	TRIP13	ORPHA:1052
HP:0040019	Finger clinodactyly	701	BUB1B	ORPHA:1052
HP:0040019	Finger clinodactyly	54476	RNF216	ORPHA:1173
HP:0040019	Finger clinodactyly	10908	PNPLA6	ORPHA:1173
HP:0040019	Finger clinodactyly	23036	ZNF292	OMIM:619188
HP:0040019	Finger clinodactyly	51199	NIN	OMIM:614851
HP:0040019	Finger clinodactyly	51199	NIN	ORPHA:319675
HP:0040019	Finger clinodactyly	1954	MEGF8	OMIM:614976
HP:0040019	Finger clinodactyly	25942	SIN3A	OMIM:613406
HP:0040019	Finger clinodactyly	4953	ODC1	OMIM:619075
HP:0040019	Finger clinodactyly	4953	ODC1	ORPHA:544488
HP:0040019	Finger clinodactyly	1857	DVL3	ORPHA:3107
HP:0040019	Finger clinodactyly	7474	WNT5A	ORPHA:3107
HP:0040019	Finger clinodactyly	1855	DVL1	ORPHA:3107
HP:0040019	Finger clinodactyly	2535	FZD2	ORPHA:3107
HP:0040019	Finger clinodactyly	2535	FZD2	OMIM:164745
HP:0040019	Finger clinodactyly	26053	AUTS2	OMIM:615834
HP:0040019	Finger clinodactyly	6804	STX1A	ORPHA:904
HP:0040019	Finger clinodactyly	7461	CLIP2	ORPHA:904
HP:0040019	Finger clinodactyly	84277	DNAJC30	ORPHA:904
HP:0040019	Finger clinodactyly	8468	FKBP6	ORPHA:904
HP:0040019	Finger clinodactyly	5982	RFC2	ORPHA:904
HP:0040019	Finger clinodactyly	2969	GTF2I	ORPHA:904
HP:0040019	Finger clinodactyly	3984	LIMK1	ORPHA:904
HP:0040019	Finger clinodactyly	9569	GTF2IRD1	ORPHA:904
HP:0040019	Finger clinodactyly	155382	VPS37D	ORPHA:904
HP:0040019	Finger clinodactyly	155368	METTL27	ORPHA:904
HP:0040019	Finger clinodactyly	114049	BUD23	ORPHA:904
HP:0040019	Finger clinodactyly	7458	EIF4H	ORPHA:904
HP:0040019	Finger clinodactyly	84163	GTF2IRD2	ORPHA:904
HP:0040019	Finger clinodactyly	9275	BCL7B	ORPHA:904
HP:0040019	Finger clinodactyly	26608	TBL2	ORPHA:904
HP:0040019	Finger clinodactyly	653361	NCF1	ORPHA:904
HP:0040019	Finger clinodactyly	135886	TMEM270	ORPHA:904
HP:0040019	Finger clinodactyly	51085	MLXIPL	ORPHA:904
HP:0040019	Finger clinodactyly	51085	MLXIPL	OMIM:194050
HP:0040019	Finger clinodactyly	9031	BAZ1B	ORPHA:904
HP:0040019	Finger clinodactyly	2006	ELN	ORPHA:904
HP:0040019	Finger clinodactyly	2006	ELN	OMIM:194050
HP:0040019	Finger clinodactyly	2122	MECOM	ORPHA:71289
HP:0040019	Finger clinodactyly	3207	HOXA11	ORPHA:71289
HP:0040019	Finger clinodactyly	3207	HOXA11	OMIM:605432
HP:0040019	Finger clinodactyly	81031	SLC2A10	ORPHA:3342
HP:0040019	Finger clinodactyly	55165	CEP55	OMIM:236500
HP:0040019	Finger clinodactyly	157570	ESCO2	ORPHA:3103
HP:0040019	Finger clinodactyly	84992	PIGY	OMIM:616809
HP:0040019	Finger clinodactyly	4094	MAF	ORPHA:1272
HP:0040019	Finger clinodactyly	6628	SNRPB	ORPHA:1393
HP:0040019	Finger clinodactyly	6628	SNRPB	OMIM:117650
HP:0040019	Finger clinodactyly	1028	CDKN1C	ORPHA:397590
HP:0040019	Finger clinodactyly	5324	PLAG1	ORPHA:397590
HP:0040019	Finger clinodactyly	9555	MACROH2A1	ORPHA:1275
HP:0040019	Finger clinodactyly	5307	PITX1	ORPHA:1275
HP:0040019	Finger clinodactyly	5422	POLA1	ORPHA:163976
HP:0040019	Finger clinodactyly	5422	POLA1	OMIM:301030
HP:0040019	Finger clinodactyly	55906	ZC4H2	ORPHA:3454
HP:0040019	Finger clinodactyly	10430	TMEM147	OMIM:620075
HP:0040019	Finger clinodactyly	3187	HNRNPH1	OMIM:620083
HP:0040019	Finger clinodactyly	2626	GATA4	OMIM:187500
HP:0040019	Finger clinodactyly	2626	GATA4	ORPHA:3303
HP:0040019	Finger clinodactyly	23414	ZFPM2	OMIM:187500
HP:0040019	Finger clinodactyly	23414	ZFPM2	ORPHA:3303
HP:0040019	Finger clinodactyly	1482	NKX2-5	OMIM:187500
HP:0040019	Finger clinodactyly	1482	NKX2-5	ORPHA:3303
HP:0040019	Finger clinodactyly	182	JAG1	OMIM:187500
HP:0040019	Finger clinodactyly	182	JAG1	ORPHA:3303
HP:0040019	Finger clinodactyly	6899	TBX1	OMIM:187500
HP:0040019	Finger clinodactyly	6899	TBX1	ORPHA:3303
HP:0040019	Finger clinodactyly	2627	GATA6	OMIM:187500
HP:0040019	Finger clinodactyly	2627	GATA6	ORPHA:3303
HP:0040019	Finger clinodactyly	545	ATR	ORPHA:808
HP:0040019	Finger clinodactyly	545	ATR	OMIM:210600
HP:0040019	Finger clinodactyly	1062	CENPE	ORPHA:808
HP:0040019	Finger clinodactyly	5116	PCNT	ORPHA:808
HP:0040019	Finger clinodactyly	5116	PCNT	OMIM:210720
HP:0040019	Finger clinodactyly	5116	PCNT	ORPHA:2637
HP:0040019	Finger clinodactyly	79902	NUP85	ORPHA:808
HP:0040019	Finger clinodactyly	84126	ATRIP	ORPHA:808
HP:0040019	Finger clinodactyly	55835	CENPJ	ORPHA:808
HP:0040019	Finger clinodactyly	10293	TRAIP	ORPHA:808
HP:0040019	Finger clinodactyly	10733	PLK4	ORPHA:808
HP:0040019	Finger clinodactyly	9939	RBM8A	ORPHA:3320
HP:0040019	Finger clinodactyly	9939	RBM8A	OMIM:274000
HP:0040019	Finger clinodactyly	55023	PHIP	ORPHA:589905
HP:0040019	Finger clinodactyly	55023	PHIP	OMIM:617991
HP:0040019	Finger clinodactyly	8626	TP63	ORPHA:69085
HP:0040019	Finger clinodactyly	29123	ANKRD11	OMIM:148050
HP:0040019	Finger clinodactyly	9775	EIF4A3	OMIM:268305
HP:0040019	Finger clinodactyly	2702	GJA5	OMIM:612474
HP:0040019	Finger clinodactyly	2702	GJA5	ORPHA:3303
HP:0040019	Finger clinodactyly	2703	GJA8	OMIM:612474
HP:0040019	Finger clinodactyly	3897	L1CAM	ORPHA:2466
HP:0040019	Finger clinodactyly	4208	MEF2C	OMIM:613443
HP:0040019	Finger clinodactyly	55690	PACS1	ORPHA:329224
HP:0040019	Finger clinodactyly	2245	FGD1	ORPHA:915
HP:0040019	Finger clinodactyly	9230	RAB11B	OMIM:617807
HP:0040019	Finger clinodactyly	51621	KLF13	OMIM:612001
HP:0040019	Finger clinodactyly	5648	MASP1	OMIM:257920
HP:0040019	Finger clinodactyly	23394	ADNP	OMIM:615873
HP:0040019	Finger clinodactyly	9759	HDAC4	ORPHA:1001
HP:0040019	Finger clinodactyly	11133	KPTN	OMIM:615637
HP:0040019	Finger clinodactyly	11133	KPTN	ORPHA:397612
HP:0040019	Finger clinodactyly	85358	SHANK3	OMIM:606232
HP:0040019	Finger clinodactyly	85358	SHANK3	ORPHA:48652
HP:0040019	Finger clinodactyly	23028	KDM1A	OMIM:616728
HP:0040019	Finger clinodactyly	23028	KDM1A	ORPHA:477993
HP:0040019	Finger clinodactyly	137814	NKX2-6	ORPHA:3303
HP:0040019	Finger clinodactyly	3791	KDR	ORPHA:3303
HP:0040019	Finger clinodactyly	2657	GDF1	ORPHA:3303
HP:0040019	Finger clinodactyly	140628	GATA5	ORPHA:3303
HP:0040019	Finger clinodactyly	2324	FLT4	ORPHA:3303
HP:0040019	Finger clinodactyly	10370	CITED2	ORPHA:3303
HP:0040019	Finger clinodactyly	2334	AFF2	ORPHA:100973
HP:0040019	Finger clinodactyly	10847	SRCAP	OMIM:136140
HP:0040019	Finger clinodactyly	10982	MAPRE2	OMIM:616734
HP:0040019	Finger clinodactyly	4131	MAP1B	OMIM:618918
HP:0040019	Finger clinodactyly	54808	DYM	OMIM:223800
HP:0040019	Finger clinodactyly	84679	SLC9A7	OMIM:301024
HP:0040019	Finger clinodactyly	10735	STAG2	OMIM:301022
HP:0040019	Finger clinodactyly	10265	IRX5	OMIM:611174
HP:0040019	Finger clinodactyly	5925	RB1	ORPHA:1587
HP:0040019	Finger clinodactyly	7874	USP7	OMIM:616863
HP:0040019	Finger clinodactyly	3759	KCNJ2	OMIM:170390
HP:0040019	Finger clinodactyly	81620	CDT1	ORPHA:2554
HP:0040019	Finger clinodactyly	5000	ORC4	ORPHA:2554
HP:0040019	Finger clinodactyly	23594	ORC6	ORPHA:2554
HP:0040019	Finger clinodactyly	8318	CDC45	ORPHA:2554
HP:0040019	Finger clinodactyly	990	CDC6	ORPHA:2554
HP:0040019	Finger clinodactyly	51053	GMNN	ORPHA:2554
HP:0040019	Finger clinodactyly	64093	SMOC1	ORPHA:1106
HP:0040019	Finger clinodactyly	25	ABL1	OMIM:617602
HP:0040019	Finger clinodactyly	83696	TRAPPC9	ORPHA:352530
HP:0040019	Finger clinodactyly	860	RUNX2	ORPHA:1452
HP:0040019	Finger clinodactyly	29980	DONSON	OMIM:617604
HP:0040019	Finger clinodactyly	23476	BRD4	ORPHA:199
HP:0040019	Finger clinodactyly	8243	SMC1A	ORPHA:199
HP:0040019	Finger clinodactyly	10664	CTCF	ORPHA:363611
HP:0040019	Finger clinodactyly	157680	VPS13B	ORPHA:193
HP:0040019	Finger clinodactyly	22931	RAB18	OMIM:614222
HP:0040019	Finger clinodactyly	9894	TELO2	ORPHA:488642
HP:0040019	Finger clinodactyly	490	ATP2B1	OMIM:619910
HP:0040019	Finger clinodactyly	8405	SPOP	OMIM:618828
HP:0040019	Finger clinodactyly	8405	SPOP	OMIM:618829
HP:0040019	Finger clinodactyly	284252	KCTD1	OMIM:181270
HP:0040019	Finger clinodactyly	54870	QRICH1	OMIM:617982
HP:0040019	Finger clinodactyly	139285	AMER1	OMIM:300373
HP:0040019	Finger clinodactyly	4841	NONO	ORPHA:466791
HP:0040019	Finger clinodactyly	1663	DDX11	OMIM:613398
HP:0040019	Finger clinodactyly	51317	PHF21A	OMIM:618725
HP:0040019	Finger clinodactyly	2186	BPTF	OMIM:617755
HP:0040019	Finger clinodactyly	59341	TRPV4	ORPHA:2635
HP:0040019	Finger clinodactyly	10225	CD96	ORPHA:1308
HP:0040019	Finger clinodactyly	8481	OFD1	ORPHA:2750
HP:0040019	Finger clinodactyly	4848	CNOT2	OMIM:618608
HP:0040019	Finger clinodactyly	64131	XYLT1	ORPHA:1425
HP:0040019	Finger clinodactyly	124583	CANT1	ORPHA:1425
HP:0040019	Finger clinodactyly	4204	MECP2	OMIM:300260
HP:0040019	Finger clinodactyly	55553	SOX6	OMIM:618971
HP:0040019	Finger clinodactyly	84148	KAT8	OMIM:618974
HP:0040019	Finger clinodactyly	58499	ZNF462	OMIM:618619
HP:0040019	Finger clinodactyly	4882	NPR2	OMIM:615923
HP:0040019	Finger clinodactyly	55249	YY1AP1	OMIM:602531
HP:0040019	Finger clinodactyly	10466	COG5	ORPHA:263487
HP:0040019	Finger clinodactyly	8092	ALX1	ORPHA:306542
HP:0040019	Finger clinodactyly	6885	MAP3K7	OMIM:617137
HP:0040019	Finger clinodactyly	4750	NEK1	ORPHA:2751
HP:0040019	Finger clinodactyly	6925	TCF4	ORPHA:2896
HP:0040019	Finger clinodactyly	10210	TOPORS	ORPHA:2754
HP:0040019	Finger clinodactyly	9851	KIAA0753	ORPHA:2754
HP:0040019	Finger clinodactyly	26123	TCTN3	ORPHA:2754
HP:0040019	Finger clinodactyly	5147	PDE6D	ORPHA:2754
HP:0040019	Finger clinodactyly	65250	CPLANE1	ORPHA:2754
HP:0040019	Finger clinodactyly	51259	TMEM216	ORPHA:2754
HP:0040019	Finger clinodactyly	317662	FAM149B1	ORPHA:2754
HP:0040019	Finger clinodactyly	6910	TBX5	OMIM:142900
HP:0040019	Finger clinodactyly	257	ALX3	ORPHA:391474
HP:0040019	Finger clinodactyly	84342	COG8	OMIM:611182
HP:0040019	Finger clinodactyly	2036	EPB41L1	OMIM:614257
HP:0040019	Finger clinodactyly	55784	MCTP2	ORPHA:1596
HP:0040019	Finger clinodactyly	1747	DLX3	ORPHA:3352
HP:0040019	Finger clinodactyly	4000	LMNA	ORPHA:79474
HP:0040019	Finger clinodactyly	10236	HNRNPR	OMIM:620073
HP:0040019	Finger clinodactyly	9968	MED12	ORPHA:93932
HP:0040019	Finger clinodactyly	9742	IFT140	OMIM:266920
HP:0040019	Finger clinodactyly	22856	CHSY1	ORPHA:363417
HP:0040019	Finger clinodactyly	55790	CSGALNACT1	OMIM:618870
HP:0040019	Finger clinodactyly	55027	HEATR3	OMIM:620072
HP:0040019	Finger clinodactyly	91461	PKDCC	OMIM:618821
HP:0040019	Finger clinodactyly	388015	RTL1	ORPHA:96334
HP:0040019	Finger clinodactyly	8788	DLK1	ORPHA:96334
HP:0040019	Finger clinodactyly	55384	MEG3	ORPHA:96334
HP:0040019	Finger clinodactyly	1301	COL11A1	OMIM:154780
HP:0040019	Finger clinodactyly	6638	SNRPN	ORPHA:177907
HP:0040019	Finger clinodactyly	3767	KCNJ11	ORPHA:79134
HP:0040019	Finger clinodactyly	79731	NARS2	ORPHA:79134
HP:0040019	Finger clinodactyly	6833	ABCC8	ORPHA:79134
HP:0040019	Finger clinodactyly	5293	PIK3CD	ORPHA:221139
HP:0040019	Finger clinodactyly	90417	KNSTRN	ORPHA:221139
HP:0040022	Clinodactyly of the 2nd finger	10236	HNRNPR	OMIM:620073
HP:0040022	Clinodactyly of the 2nd finger	9968	MED12	ORPHA:93932
HP:0040022	Clinodactyly of the 2nd finger	9742	IFT140	OMIM:266920
HP:0040022	Clinodactyly of the 2nd finger	5293	PIK3CD	ORPHA:221139
HP:0040022	Clinodactyly of the 2nd finger	90417	KNSTRN	ORPHA:221139
HP:0040022	Clinodactyly of the 2nd finger	22856	CHSY1	ORPHA:363417
HP:0040022	Clinodactyly of the 2nd finger	55790	CSGALNACT1	OMIM:618870
HP:0040023	Clinodactyly of the thumb	55027	HEATR3	OMIM:620072
HP:0040024	Clinodactyly of the 3rd finger	91461	PKDCC	OMIM:618821
HP:0040024	Clinodactyly of the 3rd finger	388015	RTL1	ORPHA:96334
HP:0040024	Clinodactyly of the 3rd finger	8788	DLK1	ORPHA:96334
HP:0040024	Clinodactyly of the 3rd finger	55384	MEG3	ORPHA:96334
HP:0040024	Clinodactyly of the 3rd finger	5293	PIK3CD	ORPHA:221139
HP:0040024	Clinodactyly of the 3rd finger	90417	KNSTRN	ORPHA:221139
HP:0040025	Clinodactyly of the 4th finger	1301	COL11A1	OMIM:154780
HP:0040025	Clinodactyly of the 4th finger	6638	SNRPN	ORPHA:177907
HP:0040025	Clinodactyly of the 4th finger	3767	KCNJ11	ORPHA:79134
HP:0040025	Clinodactyly of the 4th finger	79731	NARS2	ORPHA:79134
HP:0040025	Clinodactyly of the 4th finger	6833	ABCC8	ORPHA:79134
HP:0040025	Clinodactyly of the 4th finger	5293	PIK3CD	ORPHA:221139
HP:0040025	Clinodactyly of the 4th finger	90417	KNSTRN	ORPHA:221139
HP:0040030	Chorioretinal hypopigmentation	65082	VPS33A	OMIM:617303
HP:0040030	Chorioretinal hypopigmentation	6492	SIM1	ORPHA:398079
HP:0040030	Chorioretinal hypopigmentation	54551	MAGEL2	ORPHA:398069
HP:0040030	Chorioretinal hypopigmentation	3458	IFNG	ORPHA:805
HP:0040030	Chorioretinal hypopigmentation	7248	TSC1	ORPHA:805
HP:0040030	Chorioretinal hypopigmentation	7249	TSC2	ORPHA:805
HP:0040030	Chorioretinal hypopigmentation	7490	WT1	OMIM:106210
HP:0040030	Chorioretinal hypopigmentation	5080	PAX6	OMIM:106210
HP:0040030	Chorioretinal hypopigmentation	1638	DCT	OMIM:619165
HP:0040030	Chorioretinal hypopigmentation	10166	SLC25A15	ORPHA:415
HP:0040031	Chorioretinal hyperpigmentation	125988	MICOS13	OMIM:618329
HP:0040031	Chorioretinal hyperpigmentation	4942	OAT	ORPHA:414
HP:0040035	Abnormality of the fourth metatarsal bone	9759	HDAC4	OMIM:600430
HP:0040035	Abnormality of the fourth metatarsal bone	9578	CDC42BPB	OMIM:619841
HP:0040035	Abnormality of the fourth metatarsal bone	5191	PEX7	OMIM:266500
HP:0040035	Abnormality of the fourth metatarsal bone	5264	PHYH	OMIM:266500
HP:0040035	Abnormality of the fourth metatarsal bone	94005	PIGS	OMIM:618143
HP:0040035	Abnormality of the fourth metatarsal bone	341208	HEPHL1	OMIM:261990
HP:0040035	Abnormality of the fourth metatarsal bone	89970	RSPRY1	ORPHA:457395
HP:0040035	Abnormality of the fourth metatarsal bone	89970	RSPRY1	OMIM:616723
HP:0040035	Abnormality of the fourth metatarsal bone	54585	LZTFL1	OMIM:615994
HP:0040035	Abnormality of the fourth metatarsal bone	55628	ZNF407	OMIM:619557
HP:0040035	Abnormality of the fourth metatarsal bone	2146	EZH2	OMIM:277590
HP:0040035	Abnormality of the fourth metatarsal bone	79633	FAT4	OMIM:615546
HP:0040035	Abnormality of the fourth metatarsal bone	8642	DCHS1	OMIM:601390
HP:0040035	Abnormality of the fourth metatarsal bone	54496	PRMT7	ORPHA:464288
HP:0040035	Abnormality of the fourth metatarsal bone	6925	TCF4	OMIM:610954
HP:0040036	Onychogryposis of fingernail	1857	DVL3	ORPHA:3107
HP:0040036	Onychogryposis of fingernail	7474	WNT5A	ORPHA:3107
HP:0040036	Onychogryposis of fingernail	1855	DVL1	ORPHA:3107
HP:0040036	Onychogryposis of fingernail	2535	FZD2	ORPHA:3107
HP:0040036	Onychogryposis of fingernail	1294	COL7A1	ORPHA:158676
HP:0040036	Onychogryposis of fingernail	3868	KRT16	ORPHA:2309
HP:0040036	Onychogryposis of fingernail	3872	KRT17	ORPHA:2309
HP:0040036	Onychogryposis of fingernail	3853	KRT6A	ORPHA:2309
HP:0040036	Onychogryposis of fingernail	3854	KRT6B	ORPHA:2309
HP:0040039	Onycholysis of fingernails	3691	ITGB4	OMIM:619816
HP:0040042	Aplasia of the eccrine sweat glands	8517	IKBKG	OMIM:300291
HP:0040045	Abnormal hemidiaphragm morphology	7026	NR2F2	OMIM:618901
HP:0040045	Abnormal hemidiaphragm morphology	2627	GATA6	OMIM:600001
HP:0040045	Abnormal hemidiaphragm morphology	79133	NDUFAF5	OMIM:618238
HP:0040045	Abnormal hemidiaphragm morphology	8854	ALDH1A2	OMIM:620025
HP:0040045	Abnormal hemidiaphragm morphology	7490	WT1	OMIM:608978
HP:0040045	Abnormal hemidiaphragm morphology	9578	CDC42BPB	OMIM:619841
HP:0040045	Abnormal hemidiaphragm morphology	10020	GNE	ORPHA:602
HP:0040046	Abnormal left hemidiaphragm morphology	7026	NR2F2	OMIM:618901
HP:0040046	Abnormal left hemidiaphragm morphology	2627	GATA6	OMIM:600001
HP:0040046	Abnormal left hemidiaphragm morphology	7490	WT1	OMIM:608978
HP:0040046	Abnormal left hemidiaphragm morphology	79133	NDUFAF5	OMIM:618238
HP:0040046	Abnormal left hemidiaphragm morphology	8854	ALDH1A2	OMIM:620025
HP:0040047	Abnormal right hemidiaphragm morphology	7490	WT1	OMIM:608978
HP:0040047	Abnormal right hemidiaphragm morphology	9578	CDC42BPB	OMIM:619841
HP:0040047	Abnormal right hemidiaphragm morphology	10020	GNE	ORPHA:602
HP:0040049	Macular edema	3105	HLA-A	ORPHA:179
HP:0040049	Macular edema	403	ARL3	OMIM:618173
HP:0040049	Macular edema	5961	PRPH2	ORPHA:52427
HP:0040049	Macular edema	6017	RLBP1	ORPHA:52427
HP:0040049	Macular edema	6010	RHO	ORPHA:52427
HP:0040049	Macular edema	5959	RDH5	ORPHA:52427
HP:0040049	Macular edema	10594	PRPF8	OMIM:600059
HP:0040049	Macular edema	64127	NOD2	OMIM:186580
HP:0040049	Macular edema	23370	ARHGEF18	OMIM:617433
HP:0040049	Macular edema	83552	MFRP	OMIM:611040
HP:0040049	Macular edema	55624	POMGNT1	OMIM:617123
HP:0040049	Macular edema	5148	PDE6G	OMIM:613582
HP:0040049	Macular edema	92840	REEP6	OMIM:617304
HP:0040049	Macular edema	94137	RP1L1	OMIM:618826
HP:0040049	Macular edema	285440	CYP4V2	ORPHA:41751
HP:0040049	Macular edema	79947	DHDDS	OMIM:613861
HP:0040049	Macular edema	3419	IDH3A	OMIM:619007
HP:0040049	Macular edema	57670	KIAA1549	OMIM:618613
HP:0040049	Macular edema	55975	KLHL7	OMIM:612943
HP:0040049	Macular edema	7428	VHL	ORPHA:892
HP:0040049	Macular edema	595	CCND1	ORPHA:892
HP:0040049	Macular edema	10002	NR2E3	OMIM:268100
HP:0040049	Macular edema	26121	PRPF31	OMIM:600138
HP:0040049	Macular edema	4693	NDP	ORPHA:891
HP:0040049	Macular edema	1499	CTNNB1	ORPHA:891
HP:0040049	Macular edema	23554	TSPAN12	ORPHA:891
HP:0040049	Macular edema	4041	LRP5	ORPHA:891
HP:0040049	Macular edema	79797	ZNF408	ORPHA:891
HP:0040049	Macular edema	8322	FZD4	ORPHA:891
HP:0040049	Macular edema	11277	TREX1	ORPHA:247691
HP:0040049	Macular edema	11277	TREX1	OMIM:192315
HP:0040049	Macular edema	4901	NRL	OMIM:613750
HP:0040049	Macular edema	6100	RP9	OMIM:180104
HP:0040052	Abnormality of lower eyelashes	10262	SF3B4	ORPHA:245
HP:0040052	Abnormality of lower eyelashes	10262	SF3B4	OMIM:154400
HP:0040052	Abnormality of lower eyelashes	117581	TWIST2	ORPHA:1807
HP:0040052	Abnormality of lower eyelashes	6949	TCOF1	OMIM:154500
HP:0040052	Abnormality of lower eyelashes	2702	GJA5	OMIM:612474
HP:0040052	Abnormality of lower eyelashes	2703	GJA8	OMIM:612474
HP:0040053	Long lower eyelashes	2702	GJA5	OMIM:612474
HP:0040053	Long lower eyelashes	2703	GJA8	OMIM:612474
HP:0040059	Calcification of ribs	10682	EBP	ORPHA:35173
HP:0040059	Calcification of ribs	3930	LBR	OMIM:215140
HP:0040059	Calcification of ribs	3930	LBR	ORPHA:1426
HP:0040063	Decreased adipose tissue	63924	CIDEC	ORPHA:435651
HP:0040063	Decreased adipose tissue	2074	ERCC6	OMIM:133540
HP:0040063	Decreased adipose tissue	5468	PPARG	ORPHA:79083
HP:0040063	Decreased adipose tissue	3763	KCNJ6	ORPHA:435628
HP:0040063	Decreased adipose tissue	5696	PSMB8	OMIM:256040
HP:0040063	Decreased adipose tissue	1161	ERCC8	OMIM:216400
HP:0040063	Decreased adipose tissue	11128	POLR3A	ORPHA:3455
HP:0040063	Decreased adipose tissue	5424	POLD1	OMIM:615381
HP:0040063	Decreased adipose tissue	6497	SKI	OMIM:182212
HP:0040063	Decreased adipose tissue	8260	NAA10	OMIM:300855
HP:0040063	Decreased adipose tissue	54345	SOX18	OMIM:137940
HP:0040063	Decreased adipose tissue	2271	FH	OMIM:606812
HP:0040063	Decreased adipose tissue	8367	H4C5	OMIM:619950
HP:0040063	Decreased adipose tissue	7040	TGFB1	OMIM:131300
HP:0040063	Decreased adipose tissue	29957	SLC25A24	OMIM:612289
HP:0040063	Decreased adipose tissue	29957	SLC25A24	ORPHA:2963
HP:0040063	Decreased adipose tissue	3643	INSR	ORPHA:508
HP:0040063	Decreased adipose tissue	3643	INSR	ORPHA:769
HP:0040063	Decreased adipose tissue	256297	PTF1A	OMIM:609069
HP:0040063	Decreased adipose tissue	5346	PLIN1	ORPHA:280356
HP:0040063	Decreased adipose tissue	221496	LEMD2	OMIM:619322
HP:0040063	Decreased adipose tissue	6514	SLC2A2	OMIM:227810
HP:0040063	Decreased adipose tissue	51305	KCNK9	OMIM:612292
HP:0040063	Decreased adipose tissue	7156	TOP3A	OMIM:618097
HP:0040063	Decreased adipose tissue	7043	TGFB3	OMIM:615582
HP:0040063	Decreased adipose tissue	523	ATP6V1A	OMIM:617403
HP:0040063	Decreased adipose tissue	529	ATP6V1E1	OMIM:617402
HP:0040063	Decreased adipose tissue	55131	RBM28	OMIM:612079
HP:0040063	Decreased adipose tissue	2783	GNB2	OMIM:619503
HP:0040063	Decreased adipose tissue	3480	IGF1R	OMIM:270450
HP:0040063	Decreased adipose tissue	26580	BSCL2	OMIM:269700
HP:0040063	Decreased adipose tissue	10555	AGPAT2	OMIM:608594
HP:0040063	Decreased adipose tissue	857	CAV1	OMIM:606721
HP:0040063	Decreased adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0040063	Decreased adipose tissue	4000	LMNA	ORPHA:740
HP:0040063	Decreased adipose tissue	4000	LMNA	OMIM:176670
HP:0040063	Decreased adipose tissue	5295	PIK3R1	OMIM:269880
HP:0040063	Decreased adipose tissue	2068	ERCC2	OMIM:601675
HP:0040063	Decreased adipose tissue	2068	ERCC2	ORPHA:33364
HP:0040063	Decreased adipose tissue	5557	PRIM1	OMIM:620005
HP:0040063	Decreased adipose tissue	404672	GTF2H5	ORPHA:33364
HP:0040063	Decreased adipose tissue	833	CARS1	ORPHA:33364
HP:0040063	Decreased adipose tissue	7737	RNF113A	ORPHA:33364
HP:0040063	Decreased adipose tissue	136647	MPLKIP	ORPHA:33364
HP:0040063	Decreased adipose tissue	6897	TARS1	ORPHA:33364
HP:0040063	Decreased adipose tissue	2071	ERCC3	ORPHA:33364
HP:0040063	Decreased adipose tissue	2961	GTF2E2	ORPHA:33364
HP:0040063	Decreased adipose tissue	2072	ERCC4	OMIM:610965
HP:0040063	Decreased adipose tissue	2200	FBN1	OMIM:616914
HP:0040063	Decreased adipose tissue	641	BLM	ORPHA:125
HP:0040063	Decreased adipose tissue	284119	CAVIN1	ORPHA:528
HP:0040063	Decreased adipose tissue	2353	FOS	ORPHA:528
HP:0040063	Decreased adipose tissue	3991	LIPE	ORPHA:435660
HP:0040063	Decreased adipose tissue	84823	LMNB2	OMIM:608709
HP:0040064	Abnormality of limbs	4854	NOTCH3	ORPHA:2591
HP:0040064	Abnormality of limbs	84168	ANTXR1	ORPHA:2067
HP:0040064	Abnormality of limbs	84987	COX14	OMIM:619053
HP:0040064	Abnormality of limbs	114034	TOE1	OMIM:614969
HP:0040064	Abnormality of limbs	132158	GLYCTK	OMIM:220120
HP:0040064	Abnormality of limbs	4591	TRIM37	OMIM:253250
HP:0040064	Abnormality of limbs	3052	HCCS	OMIM:309801
HP:0040064	Abnormality of limbs	54539	NDUFB11	OMIM:309801
HP:0040064	Abnormality of limbs	5193	PEX12	OMIM:266510
HP:0040064	Abnormality of limbs	6418	SET	OMIM:618106
HP:0040064	Abnormality of limbs	5515	PPP2CA	OMIM:618354
HP:0040064	Abnormality of limbs	1748	DLX4	OMIM:616788
HP:0040064	Abnormality of limbs	121214	SDR9C7	OMIM:617574
HP:0040064	Abnormality of limbs	121391	KRT74	OMIM:194300
HP:0040064	Abnormality of limbs	7373	COL14A1	ORPHA:79501
HP:0040064	Abnormality of limbs	3889	KRT83	OMIM:617756
HP:0040064	Abnormality of limbs	7286	TUFT1	OMIM:607655
HP:0040064	Abnormality of limbs	9015	TAF1A	ORPHA:154
HP:0040064	Abnormality of limbs	5663	PSEN1	ORPHA:154
HP:0040064	Abnormality of limbs	7112	TMPO	ORPHA:154
HP:0040064	Abnormality of limbs	9464	HAND2	ORPHA:154
HP:0040064	Abnormality of limbs	10486	CAP2	ORPHA:154
HP:0040064	Abnormality of limbs	7168	TPM1	ORPHA:154
HP:0040064	Abnormality of limbs	7414	VCL	ORPHA:154
HP:0040064	Abnormality of limbs	70	ACTC1	ORPHA:154
HP:0040064	Abnormality of limbs	27063	ANKRD1	ORPHA:154
HP:0040064	Abnormality of limbs	8048	CSRP3	ORPHA:154
HP:0040064	Abnormality of limbs	7139	TNNT2	ORPHA:154
HP:0040064	Abnormality of limbs	1829	DSG2	ORPHA:154
HP:0040064	Abnormality of limbs	3910	LAMA4	ORPHA:154
HP:0040064	Abnormality of limbs	10587	TXNRD2	ORPHA:154
HP:0040064	Abnormality of limbs	5350	PLN	ORPHA:154
HP:0040064	Abnormality of limbs	91624	NEXN	ORPHA:154
HP:0040064	Abnormality of limbs	79717	PPCS	ORPHA:154
HP:0040064	Abnormality of limbs	5664	PSEN2	ORPHA:154
HP:0040064	Abnormality of limbs	4624	MYH6	ORPHA:154
HP:0040064	Abnormality of limbs	9529	BAG5	ORPHA:154
HP:0040064	Abnormality of limbs	4607	MYBPC3	ORPHA:154
HP:0040064	Abnormality of limbs	282996	RBM20	ORPHA:154
HP:0040064	Abnormality of limbs	7137	TNNI3	ORPHA:154
HP:0040064	Abnormality of limbs	2274	FHL2	ORPHA:154
HP:0040064	Abnormality of limbs	22845	DOLK	ORPHA:154
HP:0040064	Abnormality of limbs	57798	GATAD1	ORPHA:154
HP:0040064	Abnormality of limbs	7134	TNNC1	ORPHA:154
HP:0040064	Abnormality of limbs	6331	SCN5A	ORPHA:154
HP:0040064	Abnormality of limbs	79092	CARD14	OMIM:173200
HP:0040064	Abnormality of limbs	79092	CARD14	ORPHA:2897
HP:0040064	Abnormality of limbs	162	AP1B1	OMIM:242150
HP:0040064	Abnormality of limbs	4574	MT-TS1	ORPHA:2202
HP:0040064	Abnormality of limbs	1824	DSC2	OMIM:610476
HP:0040064	Abnormality of limbs	3849	KRT2	ORPHA:455
HP:0040064	Abnormality of limbs	6898	TAT	ORPHA:28378
HP:0040064	Abnormality of limbs	285848	PNPLA1	OMIM:615024
HP:0040064	Abnormality of limbs	285848	PNPLA1	ORPHA:79394
HP:0040064	Abnormality of limbs	23328	SASH1	OMIM:618373
HP:0040064	Abnormality of limbs	1474	CST6	OMIM:618535
HP:0040064	Abnormality of limbs	54795	TRPM4	ORPHA:316
HP:0040064	Abnormality of limbs	348938	NIPAL4	OMIM:612281
HP:0040064	Abnormality of limbs	348938	NIPAL4	ORPHA:79394
HP:0040064	Abnormality of limbs	25959	KANK2	OMIM:616099
HP:0040064	Abnormality of limbs	1493	CTLA4	ORPHA:3162
HP:0040064	Abnormality of limbs	940	CD28	ORPHA:3162
HP:0040064	Abnormality of limbs	7133	TNFRSF1B	ORPHA:3162
HP:0040064	Abnormality of limbs	79977	GRHL2	OMIM:616029
HP:0040064	Abnormality of limbs	7298	TYMS	OMIM:620040
HP:0040064	Abnormality of limbs	1593	CYP27A1	ORPHA:909
HP:0040064	Abnormality of limbs	7355	SLC35A2	ORPHA:356961
HP:0040064	Abnormality of limbs	540	ATP7B	ORPHA:905
HP:0040064	Abnormality of limbs	56983	POGLUT1	ORPHA:79145
HP:0040064	Abnormality of limbs	3852	KRT5	ORPHA:79145
HP:0040064	Abnormality of limbs	23509	POFUT1	ORPHA:79145
HP:0040064	Abnormality of limbs	55851	PSENEN	ORPHA:79145
HP:0040064	Abnormality of limbs	6775	STAT4	ORPHA:85408
HP:0040064	Abnormality of limbs	3560	IL2RB	ORPHA:85408
HP:0040064	Abnormality of limbs	79722	ANKRD55	ORPHA:85408
HP:0040064	Abnormality of limbs	26191	PTPN22	ORPHA:85408
HP:0040064	Abnormality of limbs	919	CD247	ORPHA:85408
HP:0040064	Abnormality of limbs	3559	IL2RA	ORPHA:85408
HP:0040064	Abnormality of limbs	5771	PTPN2	ORPHA:85408
HP:0040064	Abnormality of limbs	57152	SLURP1	ORPHA:87503
HP:0040064	Abnormality of limbs	9993	DGCR2	OMIM:192430
HP:0040064	Abnormality of limbs	8220	ESS2	OMIM:192430
HP:0040064	Abnormality of limbs	8214	DGCR6	OMIM:192430
HP:0040064	Abnormality of limbs	54487	DGCR8	OMIM:192430
HP:0040064	Abnormality of limbs	5428	POLG	ORPHA:298
HP:0040064	Abnormality of limbs	1890	TYMP	ORPHA:298
HP:0040064	Abnormality of limbs	3980	LIG3	ORPHA:298
HP:0040064	Abnormality of limbs	50484	RRM2B	ORPHA:298
HP:0040064	Abnormality of limbs	84572	GNPTG	OMIM:252605
HP:0040064	Abnormality of limbs	51360	MBTPS2	ORPHA:2273
HP:0040064	Abnormality of limbs	2717	GLA	OMIM:301500
HP:0040064	Abnormality of limbs	22930	RAB3GAP1	ORPHA:1387
HP:0040064	Abnormality of limbs	4210	MEFV	ORPHA:3243
HP:0040064	Abnormality of limbs	7840	ALMS1	OMIM:203800
HP:0040064	Abnormality of limbs	23389	MED13L	ORPHA:369891
HP:0040064	Abnormality of limbs	10804	GJB6	OMIM:129500
HP:0040064	Abnormality of limbs	3098	HK1	ORPHA:99953
HP:0040064	Abnormality of limbs	51651	PTRH2	ORPHA:456312
HP:0040064	Abnormality of limbs	7305	TYROBP	OMIM:221770
HP:0040064	Abnormality of limbs	9927	MFN2	ORPHA:99947
HP:0040064	Abnormality of limbs	10617	STAMBP	OMIM:614261
HP:0040064	Abnormality of limbs	28981	IFT81	OMIM:617895
HP:0040064	Abnormality of limbs	392255	GDF6	OMIM:617898
HP:0040064	Abnormality of limbs	5238	PGM3	ORPHA:443811
HP:0040064	Abnormality of limbs	55733	HHAT	OMIM:600092
HP:0040064	Abnormality of limbs	1836	SLC26A2	ORPHA:56304
HP:0040064	Abnormality of limbs	1836	SLC26A2	OMIM:226900
HP:0040064	Abnormality of limbs	1836	SLC26A2	ORPHA:93307
HP:0040064	Abnormality of limbs	9786	KIAA0586	ORPHA:397715
HP:0040064	Abnormality of limbs	114803	MYSM1	ORPHA:508542
HP:0040064	Abnormality of limbs	149775	GNAS-AS1	OMIM:603233
HP:0040064	Abnormality of limbs	8675	STX16	OMIM:603233
HP:0040064	Abnormality of limbs	2778	GNAS	OMIM:603233
HP:0040064	Abnormality of limbs	2778	GNAS	ORPHA:79443
HP:0040064	Abnormality of limbs	2778	GNAS	ORPHA:79444
HP:0040064	Abnormality of limbs	2778	GNAS	ORPHA:79445
HP:0040064	Abnormality of limbs	2778	GNAS	OMIM:612463
HP:0040064	Abnormality of limbs	2778	GNAS	OMIM:612462
HP:0040064	Abnormality of limbs	2778	GNAS	ORPHA:2762
HP:0040064	Abnormality of limbs	2778	GNAS	OMIM:103580
HP:0040064	Abnormality of limbs	10026	PIGK	OMIM:618879
HP:0040064	Abnormality of limbs	28960	DCPS	OMIM:616459
HP:0040064	Abnormality of limbs	57231	SNX14	ORPHA:397709
HP:0040064	Abnormality of limbs	57231	SNX14	OMIM:616354
HP:0040064	Abnormality of limbs	1513	CTSK	OMIM:265800
HP:0040064	Abnormality of limbs	1513	CTSK	ORPHA:763
HP:0040064	Abnormality of limbs	818	CAMK2G	OMIM:618522
HP:0040064	Abnormality of limbs	54453	RIN2	OMIM:613075
HP:0040064	Abnormality of limbs	54453	RIN2	ORPHA:217335
HP:0040064	Abnormality of limbs	170691	ADAMTS17	OMIM:613195
HP:0040064	Abnormality of limbs	9469	CHST3	OMIM:143095
HP:0040064	Abnormality of limbs	9469	CHST3	ORPHA:263463
HP:0040064	Abnormality of limbs	7994	KAT6A	ORPHA:457193
HP:0040064	Abnormality of limbs	7994	KAT6A	OMIM:616268
HP:0040064	Abnormality of limbs	84100	ARL6	OMIM:209900
HP:0040064	Abnormality of limbs	84100	ARL6	OMIM:600151
HP:0040064	Abnormality of limbs	79140	CCDC28B	OMIM:209900
HP:0040064	Abnormality of limbs	582	BBS1	OMIM:209900
HP:0040064	Abnormality of limbs	8036	SHOC2	ORPHA:2701
HP:0040064	Abnormality of limbs	5500	PPP1CB	ORPHA:2701
HP:0040064	Abnormality of limbs	63901	FAM111A	OMIM:602361
HP:0040064	Abnormality of limbs	153241	CEP120	ORPHA:474
HP:0040064	Abnormality of limbs	51626	DYNC2LI1	ORPHA:474
HP:0040064	Abnormality of limbs	51626	DYNC2LI1	OMIM:617088
HP:0040064	Abnormality of limbs	79809	TTC21B	ORPHA:474
HP:0040064	Abnormality of limbs	79809	TTC21B	OMIM:613819
HP:0040064	Abnormality of limbs	8493	PPM1D	OMIM:617450
HP:0040064	Abnormality of limbs	23126	POGZ	OMIM:616364
HP:0040064	Abnormality of limbs	27125	AFF4	OMIM:616368
HP:0040064	Abnormality of limbs	27125	AFF4	ORPHA:444077
HP:0040064	Abnormality of limbs	1311	COMP	OMIM:177170
HP:0040064	Abnormality of limbs	1311	COMP	ORPHA:750
HP:0040064	Abnormality of limbs	1311	COMP	ORPHA:93308
HP:0040064	Abnormality of limbs	4247	MGAT2	ORPHA:79329
HP:0040064	Abnormality of limbs	8314	BAP1	OMIM:619762
HP:0040064	Abnormality of limbs	54928	BPNT2	OMIM:614078
HP:0040064	Abnormality of limbs	4488	MSX2	OMIM:604757
HP:0040064	Abnormality of limbs	5727	PTCH1	ORPHA:377
HP:0040064	Abnormality of limbs	5727	PTCH1	OMIM:109400
HP:0040064	Abnormality of limbs	8643	PTCH2	ORPHA:377
HP:0040064	Abnormality of limbs	51684	SUFU	ORPHA:377
HP:0040064	Abnormality of limbs	6603	SMARCD2	OMIM:617475
HP:0040064	Abnormality of limbs	23219	FBXO28	OMIM:619777
HP:0040064	Abnormality of limbs	51322	WAC	ORPHA:466950
HP:0040064	Abnormality of limbs	29929	ALG6	ORPHA:79320
HP:0040064	Abnormality of limbs	79053	ALG8	ORPHA:79325
HP:0040064	Abnormality of limbs	257	ALX3	OMIM:136760
HP:0040064	Abnormality of limbs	257	ALX3	ORPHA:391474
HP:0040064	Abnormality of limbs	176	ACAN	OMIM:612813
HP:0040064	Abnormality of limbs	176	ACAN	ORPHA:171866
HP:0040064	Abnormality of limbs	176	ACAN	ORPHA:435804
HP:0040064	Abnormality of limbs	176	ACAN	OMIM:165800
HP:0040064	Abnormality of limbs	51114	ZDHHC9	ORPHA:776
HP:0040064	Abnormality of limbs	65109	UPF3B	ORPHA:776
HP:0040064	Abnormality of limbs	79068	FTO	OMIM:612938
HP:0040064	Abnormality of limbs	56975	FAM20C	OMIM:259775
HP:0040064	Abnormality of limbs	55249	YY1AP1	OMIM:602531
HP:0040064	Abnormality of limbs	10940	POP1	OMIM:617396
HP:0040064	Abnormality of limbs	51132	RLIM	OMIM:300978
HP:0040064	Abnormality of limbs	4141	MARS1	OMIM:619692
HP:0040064	Abnormality of limbs	1621	DBH	OMIM:223360
HP:0040064	Abnormality of limbs	2316	FLNA	ORPHA:88630
HP:0040064	Abnormality of limbs	2316	FLNA	OMIM:300244
HP:0040064	Abnormality of limbs	5077	PAX3	OMIM:148820
HP:0040064	Abnormality of limbs	10483	SEC23B	ORPHA:201
HP:0040064	Abnormality of limbs	6392	SDHD	ORPHA:201
HP:0040064	Abnormality of limbs	205717	USF3	ORPHA:201
HP:0040064	Abnormality of limbs	5290	PIK3CA	ORPHA:201
HP:0040064	Abnormality of limbs	100144748	KLLN	ORPHA:201
HP:0040064	Abnormality of limbs	633	BGN	OMIM:300989
HP:0040064	Abnormality of limbs	633	BGN	OMIM:300106
HP:0040064	Abnormality of limbs	7403	KDM6A	OMIM:300867
HP:0040064	Abnormality of limbs	5144	PDE4D	ORPHA:439822
HP:0040064	Abnormality of limbs	5144	PDE4D	ORPHA:950
HP:0040064	Abnormality of limbs	5144	PDE4D	OMIM:614613
HP:0040064	Abnormality of limbs	5144	PDE4D	ORPHA:280651
HP:0040064	Abnormality of limbs	6023	RMRP	OMIM:607095
HP:0040064	Abnormality of limbs	64374	SIL1	ORPHA:559
HP:0040064	Abnormality of limbs	51763	INPP5K	ORPHA:559
HP:0040064	Abnormality of limbs	9851	KIAA0753	OMIM:619479
HP:0040064	Abnormality of limbs	9851	KIAA0753	ORPHA:2754
HP:0040064	Abnormality of limbs	5530	PPP3CA	OMIM:618265
HP:0040064	Abnormality of limbs	10283	CWC27	OMIM:250410
HP:0040064	Abnormality of limbs	10283	CWC27	ORPHA:166035
HP:0040064	Abnormality of limbs	6513	SLC2A1	ORPHA:168577
HP:0040064	Abnormality of limbs	9060	PAPSS2	OMIM:612847
HP:0040064	Abnormality of limbs	8720	MBTPS1	OMIM:618392
HP:0040064	Abnormality of limbs	2077	ERF	OMIM:617180
HP:0040064	Abnormality of limbs	5130	PCYT1A	ORPHA:85167
HP:0040064	Abnormality of limbs	5130	PCYT1A	OMIM:608940
HP:0040064	Abnormality of limbs	23169	SLC35D1	OMIM:269250
HP:0040064	Abnormality of limbs	407975	MIR17HG	ORPHA:391646
HP:0040064	Abnormality of limbs	5295	PIK3R1	ORPHA:3163
HP:0040064	Abnormality of limbs	51371	POMP	OMIM:618048
HP:0040064	Abnormality of limbs	51594	NBAS	OMIM:614800
HP:0040064	Abnormality of limbs	4000	LMNA	ORPHA:168796
HP:0040064	Abnormality of limbs	4000	LMNA	OMIM:610140
HP:0040064	Abnormality of limbs	9897	WASHC5	ORPHA:7
HP:0040064	Abnormality of limbs	11011	TLK2	OMIM:618050
HP:0040064	Abnormality of limbs	51109	RDH11	ORPHA:436245
HP:0040064	Abnormality of limbs	25886	POC1A	OMIM:614813
HP:0040064	Abnormality of limbs	4053	LTBP2	OMIM:614819
HP:0040064	Abnormality of limbs	4053	LTBP2	ORPHA:3449
HP:0040064	Abnormality of limbs	2690	GHR	ORPHA:633
HP:0040064	Abnormality of limbs	118429	ANTXR2	ORPHA:2176
HP:0040064	Abnormality of limbs	22858	CILK1	OMIM:612651
HP:0040064	Abnormality of limbs	26153	KIF26A	OMIM:620156
HP:0040064	Abnormality of limbs	56992	KIF15	ORPHA:261323
HP:0040064	Abnormality of limbs	8289	ARID1A	OMIM:614607
HP:0040064	Abnormality of limbs	4054	LTBP3	ORPHA:969
HP:0040064	Abnormality of limbs	4054	LTBP3	OMIM:617809
HP:0040064	Abnormality of limbs	222663	SCUBE3	OMIM:619184
HP:0040064	Abnormality of limbs	6885	MAP3K7	OMIM:157800
HP:0040064	Abnormality of limbs	6885	MAP3K7	ORPHA:3238
HP:0040064	Abnormality of limbs	51021	MRPS16	OMIM:610498
HP:0040064	Abnormality of limbs	4853	NOTCH2	ORPHA:955
HP:0040064	Abnormality of limbs	2254	FGF9	ORPHA:3237
HP:0040064	Abnormality of limbs	9321	TRIP11	OMIM:184260
HP:0040064	Abnormality of limbs	5159	PDGFRB	OMIM:601812
HP:0040064	Abnormality of limbs	5139	PDE3A	ORPHA:1276
HP:0040064	Abnormality of limbs	7048	TGFBR2	OMIM:610168
HP:0040064	Abnormality of limbs	8195	MKKS	ORPHA:2473
HP:0040064	Abnormality of limbs	4882	NPR2	ORPHA:40
HP:0040064	Abnormality of limbs	50945	TBX22	ORPHA:921
HP:0040064	Abnormality of limbs	585	BBS4	OMIM:615982
HP:0040064	Abnormality of limbs	129880	BBS5	OMIM:615983
HP:0040064	Abnormality of limbs	27241	BBS9	OMIM:615986
HP:0040064	Abnormality of limbs	196528	ARID2	OMIM:617808
HP:0040064	Abnormality of limbs	55081	IFT57	OMIM:617927
HP:0040064	Abnormality of limbs	6938	TCF12	ORPHA:35099
HP:0040064	Abnormality of limbs	6938	TCF12	OMIM:615314
HP:0040064	Abnormality of limbs	7545	ZIC1	ORPHA:35099
HP:0040064	Abnormality of limbs	92482	BBIP1	OMIM:615995
HP:0040064	Abnormality of limbs	5053	PAH	ORPHA:2209
HP:0040064	Abnormality of limbs	101929726	MYMX	ORPHA:1358
HP:0040064	Abnormality of limbs	114548	NLRP3	ORPHA:1451
HP:0040064	Abnormality of limbs	9419	CRIPT	OMIM:615789
HP:0040064	Abnormality of limbs	9361	LONP1	ORPHA:1458
HP:0040064	Abnormality of limbs	8092	ALX1	ORPHA:306542
HP:0040064	Abnormality of limbs	54361	WNT4	ORPHA:247768
HP:0040064	Abnormality of limbs	55617	TASP1	OMIM:618950
HP:0040064	Abnormality of limbs	5744	PTHLH	OMIM:613382
HP:0040064	Abnormality of limbs	113246	C12orf57	OMIM:218340
HP:0040064	Abnormality of limbs	5331	PLCB3	OMIM:618961
HP:0040064	Abnormality of limbs	387	RHOA	OMIM:618727
HP:0040064	Abnormality of limbs	10210	TOPORS	ORPHA:2754
HP:0040064	Abnormality of limbs	317662	FAM149B1	ORPHA:2754
HP:0040064	Abnormality of limbs	23404	EXOSC2	OMIM:617763
HP:0040064	Abnormality of limbs	406932	MIR140	OMIM:618618
HP:0040064	Abnormality of limbs	25871	NEPRO	OMIM:618853
HP:0040064	Abnormality of limbs	255758	DYNLT2B	OMIM:617405
HP:0040064	Abnormality of limbs	5604	MAP2K1	OMIM:163950
HP:0040064	Abnormality of limbs	50964	SOST	OMIM:269500
HP:0040064	Abnormality of limbs	84529	CDIN1	OMIM:615631
HP:0040064	Abnormality of limbs	7681	MKRN3	OMIM:176270
HP:0040064	Abnormality of limbs	3653	IPW	OMIM:176270
HP:0040064	Abnormality of limbs	791114	PWRN1	OMIM:176270
HP:0040064	Abnormality of limbs	100033413	SNORD116-1	OMIM:176270
HP:0040064	Abnormality of limbs	8924	HERC2	OMIM:176270
HP:0040064	Abnormality of limbs	145624	PWAR1	OMIM:176270
HP:0040064	Abnormality of limbs	23742	NPAP1	OMIM:176270
HP:0040064	Abnormality of limbs	338433	SNORD115-1	OMIM:176270
HP:0040064	Abnormality of limbs	1723	DHODH	OMIM:263750
HP:0040064	Abnormality of limbs	4552	MTRR	ORPHA:2169
HP:0040064	Abnormality of limbs	2192	FBLN1	ORPHA:404451
HP:0040064	Abnormality of limbs	8913	CACNA1G	OMIM:618087
HP:0040064	Abnormality of limbs	8550	MAPKAPK5	OMIM:619869
HP:0040064	Abnormality of limbs	29957	SLC25A24	OMIM:612289
HP:0040064	Abnormality of limbs	4659	PPP1R12A	OMIM:618820
HP:0040064	Abnormality of limbs	6305	SBF1	OMIM:615284
HP:0040064	Abnormality of limbs	57688	ZSWIM6	OMIM:603671
HP:0040064	Abnormality of limbs	79989	IFT56	OMIM:619534
HP:0040064	Abnormality of limbs	775	CACNA1C	OMIM:618447
HP:0040064	Abnormality of limbs	8831	SYNGAP1	ORPHA:1942
HP:0040064	Abnormality of limbs	1173	AP2M1	ORPHA:1942
HP:0040064	Abnormality of limbs	1106	CHD2	ORPHA:1942
HP:0040064	Abnormality of limbs	6529	SLC6A1	ORPHA:1942
HP:0040064	Abnormality of limbs	3914	LAMB3	OMIM:226700
HP:0040064	Abnormality of limbs	3909	LAMA3	OMIM:226700
HP:0040064	Abnormality of limbs	3918	LAMC2	OMIM:226700
HP:0040064	Abnormality of limbs	54101	RIPK4	OMIM:263650
HP:0040064	Abnormality of limbs	92935	MARS2	OMIM:616430
HP:0040064	Abnormality of limbs	146059	CDAN1	OMIM:224120
HP:0040064	Abnormality of limbs	4038	LRP4	OMIM:212780
HP:0040064	Abnormality of limbs	54806	AHI1	ORPHA:475
HP:0040064	Abnormality of limbs	54806	AHI1	ORPHA:220493
HP:0040064	Abnormality of limbs	200894	ARL13B	ORPHA:475
HP:0040064	Abnormality of limbs	9731	CEP104	ORPHA:475
HP:0040064	Abnormality of limbs	23247	KATNIP	ORPHA:475
HP:0040064	Abnormality of limbs	219854	TMEM218	ORPHA:475
HP:0040064	Abnormality of limbs	95681	CEP41	ORPHA:475
HP:0040064	Abnormality of limbs	95681	CEP41	ORPHA:220493
HP:0040064	Abnormality of limbs	10464	PIBF1	ORPHA:475
HP:0040064	Abnormality of limbs	23116	TOGARAM1	ORPHA:475
HP:0040064	Abnormality of limbs	25776	CBY1	ORPHA:475
HP:0040064	Abnormality of limbs	403	ARL3	ORPHA:475
HP:0040064	Abnormality of limbs	5626	PROP1	ORPHA:226307
HP:0040064	Abnormality of limbs	89884	LHX4	ORPHA:226307
HP:0040064	Abnormality of limbs	8022	LHX3	ORPHA:226307
HP:0040064	Abnormality of limbs	5449	POU1F1	ORPHA:226307
HP:0040064	Abnormality of limbs	8820	HESX1	ORPHA:226307
HP:0040064	Abnormality of limbs	51	ACOX1	ORPHA:2971
HP:0040064	Abnormality of limbs	7547	ZIC3	OMIM:314390
HP:0040064	Abnormality of limbs	26154	ABCA12	ORPHA:457
HP:0040064	Abnormality of limbs	8241	RBM10	ORPHA:2886
HP:0040064	Abnormality of limbs	51524	TMEM138	ORPHA:2318
HP:0040064	Abnormality of limbs	23090	ZNF423	ORPHA:2318
HP:0040064	Abnormality of limbs	5566	PRKACA	ORPHA:289
HP:0040064	Abnormality of limbs	2313	FLI1	ORPHA:2308
HP:0040064	Abnormality of limbs	6309	SC5D	ORPHA:46059
HP:0040064	Abnormality of limbs	6309	SC5D	OMIM:607330
HP:0040064	Abnormality of limbs	894	CCND2	ORPHA:83473
HP:0040064	Abnormality of limbs	894	CCND2	OMIM:615938
HP:0040064	Abnormality of limbs	5296	PIK3R2	ORPHA:83473
HP:0040064	Abnormality of limbs	10000	AKT3	ORPHA:83473
HP:0040064	Abnormality of limbs	10000	AKT3	OMIM:615937
HP:0040064	Abnormality of limbs	56623	INPP5E	OMIM:213300
HP:0040064	Abnormality of limbs	56623	INPP5E	ORPHA:1454
HP:0040064	Abnormality of limbs	55593	OTUD5	OMIM:301056
HP:0040064	Abnormality of limbs	83479	DDX59	OMIM:174300
HP:0040064	Abnormality of limbs	83479	DDX59	ORPHA:2919
HP:0040064	Abnormality of limbs	285600	KIAA0825	OMIM:618498
HP:0040064	Abnormality of limbs	26005	C2CD3	OMIM:615948
HP:0040064	Abnormality of limbs	26005	C2CD3	ORPHA:434179
HP:0040064	Abnormality of limbs	26040	SETBP1	OMIM:269150
HP:0040064	Abnormality of limbs	11020	IFT27	ORPHA:110
HP:0040064	Abnormality of limbs	49855	SCAPER	ORPHA:110
HP:0040064	Abnormality of limbs	4867	NPHP1	ORPHA:110
HP:0040064	Abnormality of limbs	84984	CEP19	ORPHA:110
HP:0040064	Abnormality of limbs	22954	TRIM32	ORPHA:110
HP:0040064	Abnormality of limbs	79738	BBS10	ORPHA:110
HP:0040064	Abnormality of limbs	123016	TTC8	ORPHA:110
HP:0040064	Abnormality of limbs	583	BBS2	ORPHA:110
HP:0040064	Abnormality of limbs	583	BBS2	OMIM:615981
HP:0040064	Abnormality of limbs	166379	BBS12	ORPHA:110
HP:0040064	Abnormality of limbs	166379	BBS12	OMIM:615989
HP:0040064	Abnormality of limbs	10806	SDCCAG8	ORPHA:110
HP:0040064	Abnormality of limbs	157657	CFAP418	ORPHA:110
HP:0040064	Abnormality of limbs	157657	CFAP418	OMIM:617406
HP:0040064	Abnormality of limbs	80173	IFT74	ORPHA:110
HP:0040064	Abnormality of limbs	79005	SCNM1	OMIM:620107
HP:0040064	Abnormality of limbs	2736	GLI2	OMIM:610829
HP:0040064	Abnormality of limbs	80210	ARMC9	OMIM:617622
HP:0040064	Abnormality of limbs	23288	IQCE	OMIM:617642
HP:0040064	Abnormality of limbs	137392	CIBAR1	OMIM:618219
HP:0040064	Abnormality of limbs	7700	ZNF141	OMIM:615226
HP:0040064	Abnormality of limbs	4088	SMAD3	ORPHA:284984
HP:0040064	Abnormality of limbs	4088	SMAD3	OMIM:613795
HP:0040064	Abnormality of limbs	4088	SMAD3	ORPHA:91387
HP:0040064	Abnormality of limbs	875	CBS	ORPHA:394
HP:0040064	Abnormality of limbs	875	CBS	OMIM:236200
HP:0040064	Abnormality of limbs	25970	SH2B1	ORPHA:261222
HP:0040064	Abnormality of limbs	1075	CTSC	OMIM:245010
HP:0040064	Abnormality of limbs	1075	CTSC	ORPHA:678
HP:0040064	Abnormality of limbs	5351	PLOD1	OMIM:225400
HP:0040064	Abnormality of limbs	8076	MFAP5	OMIM:616166
HP:0040064	Abnormality of limbs	8076	MFAP5	ORPHA:91387
HP:0040064	Abnormality of limbs	72	ACTG2	ORPHA:2604
HP:0040064	Abnormality of limbs	30008	EFEMP2	OMIM:614437
HP:0040064	Abnormality of limbs	79693	YRDC	OMIM:619609
HP:0040064	Abnormality of limbs	1146	CHRNG	OMIM:265000
HP:0040064	Abnormality of limbs	284058	KANSL1	ORPHA:363958
HP:0040064	Abnormality of limbs	284058	KANSL1	ORPHA:363965
HP:0040064	Abnormality of limbs	1272	CNTN1	OMIM:612540
HP:0040064	Abnormality of limbs	29920	PYCR2	ORPHA:481152
HP:0040064	Abnormality of limbs	29920	PYCR2	OMIM:616420
HP:0040064	Abnormality of limbs	1312	COMT	ORPHA:567
HP:0040064	Abnormality of limbs	221037	JMJD1C	ORPHA:567
HP:0040064	Abnormality of limbs	2812	GP1BB	ORPHA:567
HP:0040064	Abnormality of limbs	6239	RREB1	ORPHA:567
HP:0040064	Abnormality of limbs	7290	HIRA	ORPHA:567
HP:0040064	Abnormality of limbs	9632	SEC24C	ORPHA:567
HP:0040064	Abnormality of limbs	7353	UFD1	ORPHA:567
HP:0040064	Abnormality of limbs	421	ARVCF	ORPHA:567
HP:0040064	Abnormality of limbs	444	ASPH	OMIM:601552
HP:0040064	Abnormality of limbs	79576	NKAP	OMIM:301039
HP:0040064	Abnormality of limbs	3188	HNRNPH2	OMIM:300986
HP:0040064	Abnormality of limbs	23152	CIC	OMIM:617600
HP:0040064	Abnormality of limbs	649	BMP1	OMIM:614856
HP:0040064	Abnormality of limbs	165	AEBP1	ORPHA:536532
HP:0040064	Abnormality of limbs	11285	B4GALT7	ORPHA:75496
HP:0040064	Abnormality of limbs	11285	B4GALT7	OMIM:130070
HP:0040064	Abnormality of limbs	10526	IPO8	OMIM:619472
HP:0040064	Abnormality of limbs	10526	IPO8	ORPHA:60030
HP:0040064	Abnormality of limbs	4534	MTM1	OMIM:310400
HP:0040064	Abnormality of limbs	5184	PEPD	ORPHA:742
HP:0040064	Abnormality of limbs	715	C1R	OMIM:130080
HP:0040064	Abnormality of limbs	60676	PAPPA2	OMIM:619489
HP:0040064	Abnormality of limbs	1742	DLG4	OMIM:618793
HP:0040064	Abnormality of limbs	6605	SMARCE1	OMIM:616938
HP:0040064	Abnormality of limbs	11107	PRDM5	ORPHA:90354
HP:0040064	Abnormality of limbs	84627	ZNF469	ORPHA:90354
HP:0040064	Abnormality of limbs	4677	NARS1	OMIM:619092
HP:0040064	Abnormality of limbs	6651	SON	ORPHA:500150
HP:0040064	Abnormality of limbs	2193	FARSA	OMIM:619013
HP:0040064	Abnormality of limbs	4087	SMAD2	OMIM:619656
HP:0040064	Abnormality of limbs	4087	SMAD2	ORPHA:91387
HP:0040064	Abnormality of limbs	29893	PSMC3IP	ORPHA:243
HP:0040064	Abnormality of limbs	171568	POLR3H	ORPHA:243
HP:0040064	Abnormality of limbs	2516	NR5A1	ORPHA:243
HP:0040064	Abnormality of limbs	125150	ZSWIM7	ORPHA:243
HP:0040064	Abnormality of limbs	9210	BMP15	ORPHA:243
HP:0040064	Abnormality of limbs	23514	SPIDR	ORPHA:243
HP:0040064	Abnormality of limbs	2492	FSHR	ORPHA:243
HP:0040064	Abnormality of limbs	56945	MRPS22	ORPHA:243
HP:0040064	Abnormality of limbs	646	BNC1	ORPHA:243
HP:0040064	Abnormality of limbs	4883	NPR3	OMIM:619543
HP:0040064	Abnormality of limbs	7043	TGFB3	OMIM:615582
HP:0040064	Abnormality of limbs	7043	TGFB3	ORPHA:91387
HP:0040064	Abnormality of limbs	7046	TGFBR1	ORPHA:60030
HP:0040064	Abnormality of limbs	7046	TGFBR1	OMIM:609192
HP:0040064	Abnormality of limbs	7046	TGFBR1	ORPHA:91387
HP:0040064	Abnormality of limbs	56603	CYP26B1	OMIM:614416
HP:0040064	Abnormality of limbs	7042	TGFB2	OMIM:614816
HP:0040064	Abnormality of limbs	7042	TGFB2	ORPHA:91387
HP:0040064	Abnormality of limbs	4629	MYH11	ORPHA:91387
HP:0040064	Abnormality of limbs	4015	LOX	ORPHA:91387
HP:0040064	Abnormality of limbs	59	ACTA2	ORPHA:91387
HP:0040064	Abnormality of limbs	5592	PRKG1	ORPHA:91387
HP:0040064	Abnormality of limbs	2301	FOXE3	ORPHA:91387
HP:0040064	Abnormality of limbs	4144	MAT2A	ORPHA:91387
HP:0040064	Abnormality of limbs	23493	HEY2	ORPHA:91387
HP:0040064	Abnormality of limbs	4638	MYLK	ORPHA:91387
HP:0040064	Abnormality of limbs	23400	ATP13A2	ORPHA:306674
HP:0040064	Abnormality of limbs	134218	DNAJC21	ORPHA:811
HP:0040064	Abnormality of limbs	79631	EFL1	ORPHA:811
HP:0040064	Abnormality of limbs	51119	SBDS	ORPHA:811
HP:0040064	Abnormality of limbs	6729	SRP54	ORPHA:811
HP:0040064	Abnormality of limbs	6926	TBX3	ORPHA:3138
HP:0040064	Abnormality of limbs	54808	DYM	OMIM:223800
HP:0040064	Abnormality of limbs	1280	COL2A1	OMIM:271700
HP:0040064	Abnormality of limbs	3930	LBR	OMIM:215140
HP:0040064	Abnormality of limbs	4921	DDR2	OMIM:271665
HP:0040064	Abnormality of limbs	3549	IHH	OMIM:112500
HP:0040064	Abnormality of limbs	2245	FGD1	OMIM:305400
HP:0040064	Abnormality of limbs	2245	FGD1	ORPHA:915
HP:0040064	Abnormality of limbs	9131	AIFM1	OMIM:300232
HP:0040064	Abnormality of limbs	10743	RAI1	OMIM:182290
HP:0040064	Abnormality of limbs	145173	B3GLCT	OMIM:261540
HP:0040064	Abnormality of limbs	23135	KDM6B	OMIM:618505
HP:0040064	Abnormality of limbs	54880	BCOR	ORPHA:2712
HP:0040064	Abnormality of limbs	1778	DYNC1H1	OMIM:614563
HP:0040064	Abnormality of limbs	4796	TONSL	ORPHA:93357
HP:0040064	Abnormality of limbs	5745	PTH1R	ORPHA:79106
HP:0040064	Abnormality of limbs	79718	TBL1XR1	OMIM:602342
HP:0040064	Abnormality of limbs	2200	FBN1	OMIM:608328
HP:0040064	Abnormality of limbs	171023	ASXL1	OMIM:605039
HP:0040064	Abnormality of limbs	2623	GATA1	OMIM:190685
HP:0040064	Abnormality of limbs	5277	PIGA	OMIM:300868
HP:0040064	Abnormality of limbs	55012	PPP2R3C	OMIM:618419
HP:0040064	Abnormality of limbs	23384	SPECC1L	OMIM:145420
HP:0040064	Abnormality of limbs	22907	DHX30	OMIM:617804
HP:0040064	Abnormality of limbs	2719	GPC3	OMIM:312870
HP:0040064	Abnormality of limbs	2239	GPC4	OMIM:312870
HP:0040064	Abnormality of limbs	5573	PRKAR1A	OMIM:101800
HP:0040064	Abnormality of limbs	2799	GNS	OMIM:252940
HP:0040064	Abnormality of limbs	2273	FHL1	OMIM:300280
HP:0040064	Abnormality of limbs	55343	SLC35C1	ORPHA:99843
HP:0040064	Abnormality of limbs	81794	ADAMTS10	OMIM:277600
HP:0040064	Abnormality of limbs	64840	PORCN	OMIM:305600
HP:0040064	Abnormality of limbs	64840	PORCN	ORPHA:2092
HP:0040064	Abnormality of limbs	6910	TBX5	ORPHA:392
HP:0040064	Abnormality of limbs	22880	MORC2	OMIM:616688
HP:0040064	Abnormality of limbs	1001	CDH3	OMIM:225280
HP:0040064	Abnormality of limbs	8626	TP63	OMIM:604292
HP:0040064	Abnormality of limbs	8626	TP63	ORPHA:2440
HP:0040064	Abnormality of limbs	8626	TP63	OMIM:103285
HP:0040064	Abnormality of limbs	8626	TP63	OMIM:603543
HP:0040064	Abnormality of limbs	8626	TP63	OMIM:605289
HP:0040064	Abnormality of limbs	8626	TP63	ORPHA:1896
HP:0040064	Abnormality of limbs	4047	LSS	ORPHA:2850
HP:0040064	Abnormality of limbs	197	AHSG	ORPHA:2850
HP:0040064	Abnormality of limbs	3694	ITGB6	ORPHA:2850
HP:0040064	Abnormality of limbs	79581	SLC52A2	OMIM:614707
HP:0040064	Abnormality of limbs	411	ARSB	OMIM:253200
HP:0040064	Abnormality of limbs	9150	CTDP1	OMIM:604168
HP:0040064	Abnormality of limbs	56704	JPH1	OMIM:607831
HP:0040064	Abnormality of limbs	51776	MAP3K20	OMIM:616890
HP:0040064	Abnormality of limbs	1750	DLX6	ORPHA:2440
HP:0040064	Abnormality of limbs	7979	SEM1	ORPHA:2440
HP:0040064	Abnormality of limbs	8945	BTRC	ORPHA:2440
HP:0040064	Abnormality of limbs	58513	EPS15L1	ORPHA:2440
HP:0040064	Abnormality of limbs	6468	FBXW4	ORPHA:2440
HP:0040064	Abnormality of limbs	7480	WNT10B	ORPHA:2440
HP:0040064	Abnormality of limbs	7480	WNT10B	OMIM:225300
HP:0040064	Abnormality of limbs	1749	DLX5	ORPHA:2440
HP:0040064	Abnormality of limbs	1749	DLX5	OMIM:183600
HP:0040064	Abnormality of limbs	1749	DLX5	OMIM:220600
HP:0040064	Abnormality of limbs	1717	DHCR7	ORPHA:818
HP:0040064	Abnormality of limbs	79158	GNPTAB	OMIM:252500
HP:0040064	Abnormality of limbs	79158	GNPTAB	OMIM:252600
HP:0040064	Abnormality of limbs	3516	RBPJ	ORPHA:974
HP:0040064	Abnormality of limbs	4851	NOTCH1	ORPHA:974
HP:0040064	Abnormality of limbs	57514	ARHGAP31	ORPHA:974
HP:0040064	Abnormality of limbs	57572	DOCK6	ORPHA:974
HP:0040064	Abnormality of limbs	285203	EOGT	ORPHA:974
HP:0040064	Abnormality of limbs	54567	DLL4	ORPHA:974
HP:0040064	Abnormality of limbs	8888	MCM3AP	OMIM:618124
HP:0040064	Abnormality of limbs	3423	IDS	OMIM:309900
HP:0040064	Abnormality of limbs	3664	IRF6	ORPHA:1300
HP:0040064	Abnormality of limbs	374969	SVBP	OMIM:618569
HP:0040064	Abnormality of limbs	3295	HSD17B4	OMIM:261515
HP:0040064	Abnormality of limbs	7476	WNT7A	OMIM:276820
HP:0040064	Abnormality of limbs	1509	CTSD	OMIM:610127
HP:0040064	Abnormality of limbs	64359	NXN	ORPHA:1507
HP:0040064	Abnormality of limbs	4920	ROR2	ORPHA:1507
HP:0040064	Abnormality of limbs	4313	MMP2	OMIM:259600
HP:0040064	Abnormality of limbs	2260	FGFR1	ORPHA:2117
HP:0040064	Abnormality of limbs	10397	NDRG1	ORPHA:99950
HP:0040064	Abnormality of limbs	2189	FANCG	OMIM:614082
HP:0040064	Abnormality of limbs	2189	FANCG	ORPHA:84
HP:0040064	Abnormality of limbs	80207	OPA3	ORPHA:67036
HP:0040064	Abnormality of limbs	9968	MED12	ORPHA:93932
HP:0040064	Abnormality of limbs	8200	GDF5	ORPHA:2639
HP:0040064	Abnormality of limbs	658	BMPR1B	ORPHA:2639
HP:0040064	Abnormality of limbs	672	BRCA1	ORPHA:84
HP:0040064	Abnormality of limbs	10459	MAD2L2	ORPHA:84
HP:0040064	Abnormality of limbs	7516	XRCC2	ORPHA:84
HP:0040064	Abnormality of limbs	29089	UBE2T	ORPHA:84
HP:0040064	Abnormality of limbs	675	BRCA2	ORPHA:84
HP:0040064	Abnormality of limbs	55120	FANCL	ORPHA:84
HP:0040064	Abnormality of limbs	2175	FANCA	ORPHA:84
HP:0040064	Abnormality of limbs	2187	FANCB	ORPHA:84
HP:0040064	Abnormality of limbs	2176	FANCC	ORPHA:84
HP:0040064	Abnormality of limbs	2178	FANCE	ORPHA:84
HP:0040064	Abnormality of limbs	2188	FANCF	ORPHA:84
HP:0040064	Abnormality of limbs	5888	RAD51	ORPHA:84
HP:0040064	Abnormality of limbs	5889	RAD51C	ORPHA:84
HP:0040064	Abnormality of limbs	55159	RFWD3	ORPHA:84
HP:0040064	Abnormality of limbs	83990	BRIP1	ORPHA:84
HP:0040064	Abnormality of limbs	57697	FANCM	ORPHA:84
HP:0040064	Abnormality of limbs	79728	PALB2	ORPHA:84
HP:0040064	Abnormality of limbs	84464	SLX4	ORPHA:84
HP:0040064	Abnormality of limbs	2072	ERCC4	ORPHA:84
HP:0040064	Abnormality of limbs	55215	FANCI	ORPHA:84
HP:0040064	Abnormality of limbs	64093	SMOC1	ORPHA:1106
HP:0040064	Abnormality of limbs	2261	FGFR3	OMIM:620192
HP:0040064	Abnormality of limbs	2261	FGFR3	ORPHA:2363
HP:0040064	Abnormality of limbs	23111	SPART	ORPHA:101000
HP:0040064	Abnormality of limbs	25942	SIN3A	ORPHA:94065
HP:0040064	Abnormality of limbs	1193	CLIC2	ORPHA:324410
HP:0040064	Abnormality of limbs	860	RUNX2	ORPHA:1452
HP:0040064	Abnormality of limbs	2255	FGF10	ORPHA:2363
HP:0040064	Abnormality of limbs	6469	SHH	ORPHA:93321
HP:0040064	Abnormality of limbs	6197	RPS6KA3	ORPHA:192
HP:0040064	Abnormality of limbs	6197	RPS6KA3	ORPHA:276630
HP:0040064	Abnormality of limbs	8925	HERC1	OMIM:617011
HP:0040064	Abnormality of limbs	5447	POR	OMIM:201750
HP:0040064	Abnormality of limbs	23512	SUZ12	OMIM:618786
HP:0040064	Abnormality of limbs	23512	SUZ12	ORPHA:3447
HP:0040064	Abnormality of limbs	9158	FIBP	ORPHA:500095
HP:0040064	Abnormality of limbs	9158	FIBP	OMIM:617107
HP:0040064	Abnormality of limbs	26580	BSCL2	OMIM:269700
HP:0040064	Abnormality of limbs	26580	BSCL2	ORPHA:528
HP:0040064	Abnormality of limbs	100151683	RNU4ATAC	OMIM:210710
HP:0040064	Abnormality of limbs	100151683	RNU4ATAC	ORPHA:2636
HP:0040064	Abnormality of limbs	3643	INSR	ORPHA:508
HP:0040064	Abnormality of limbs	3643	INSR	OMIM:246200
HP:0040064	Abnormality of limbs	5189	PEX1	ORPHA:3220
HP:0040064	Abnormality of limbs	5190	PEX6	ORPHA:3220
HP:0040064	Abnormality of limbs	85358	SHANK3	OMIM:606232
HP:0040064	Abnormality of limbs	85358	SHANK3	ORPHA:48652
HP:0040064	Abnormality of limbs	11128	POLR3A	OMIM:264090
HP:0040064	Abnormality of limbs	64324	NSD1	ORPHA:821
HP:0040064	Abnormality of limbs	64324	NSD1	OMIM:117550
HP:0040064	Abnormality of limbs	64324	NSD1	ORPHA:3447
HP:0040064	Abnormality of limbs	29072	SETD2	ORPHA:821
HP:0040064	Abnormality of limbs	10297	APC2	ORPHA:821
HP:0040064	Abnormality of limbs	55690	PACS1	OMIM:615009
HP:0040064	Abnormality of limbs	4221	MEN1	ORPHA:99725
HP:0040064	Abnormality of limbs	9049	AIP	ORPHA:99725
HP:0040064	Abnormality of limbs	9049	AIP	ORPHA:963
HP:0040064	Abnormality of limbs	8242	KDM5C	OMIM:300534
HP:0040064	Abnormality of limbs	440	ASNS	OMIM:615574
HP:0040064	Abnormality of limbs	9487	PIGL	OMIM:280000
HP:0040064	Abnormality of limbs	2146	EZH2	OMIM:277590
HP:0040064	Abnormality of limbs	2146	EZH2	ORPHA:3447
HP:0040064	Abnormality of limbs	5468	PPARG	ORPHA:528
HP:0040064	Abnormality of limbs	10555	AGPAT2	ORPHA:528
HP:0040064	Abnormality of limbs	10555	AGPAT2	OMIM:608594
HP:0040064	Abnormality of limbs	284119	CAVIN1	ORPHA:528
HP:0040064	Abnormality of limbs	2353	FOS	ORPHA:528
HP:0040064	Abnormality of limbs	857	CAV1	ORPHA:528
HP:0040064	Abnormality of limbs	83550	GPR101	ORPHA:963
HP:0040064	Abnormality of limbs	8726	EED	ORPHA:3447
HP:0040064	Abnormality of limbs	8726	EED	OMIM:617561
HP:0040064	Abnormality of limbs	6390	SDHB	OMIM:606764
HP:0040064	Abnormality of limbs	6391	SDHC	OMIM:606764
HP:0040064	Abnormality of limbs	3815	KIT	OMIM:606764
HP:0040064	Abnormality of limbs	4763	NF1	ORPHA:363700
HP:0040064	Abnormality of limbs	4763	NF1	ORPHA:97685
HP:0040064	Abnormality of limbs	372	ARCN1	OMIM:617164
HP:0040064	Abnormality of limbs	57167	SALL4	ORPHA:233
HP:0040064	Abnormality of limbs	57167	SALL4	ORPHA:959
HP:0040064	Abnormality of limbs	57167	SALL4	ORPHA:2307
HP:0040064	Abnormality of limbs	9935	MAFB	ORPHA:233
HP:0040064	Abnormality of limbs	1123	CHN1	ORPHA:233
HP:0040064	Abnormality of limbs	2137	EXTL3	ORPHA:508533
HP:0040064	Abnormality of limbs	22827	PUF60	ORPHA:508498
HP:0040064	Abnormality of limbs	65250	CPLANE1	OMIM:277170
HP:0040064	Abnormality of limbs	6608	SMO	OMIM:601707
HP:0040064	Abnormality of limbs	6608	SMO	ORPHA:1553
HP:0040064	Abnormality of limbs	4750	NEK1	OMIM:263520
HP:0040064	Abnormality of limbs	2737	GLI3	OMIM:175700
HP:0040064	Abnormality of limbs	2737	GLI3	ORPHA:380
HP:0040064	Abnormality of limbs	2737	GLI3	OMIM:174200
HP:0040064	Abnormality of limbs	64327	LMBR1	ORPHA:2378
HP:0040064	Abnormality of limbs	64327	LMBR1	OMIM:174500
HP:0040064	Abnormality of limbs	55027	HEATR3	OMIM:620072
HP:0040064	Abnormality of limbs	6299	SALL1	OMIM:107480
HP:0040064	Abnormality of limbs	6299	SALL1	ORPHA:857
HP:0040064	Abnormality of limbs	55112	DYNC2I1	ORPHA:93271
HP:0040064	Abnormality of limbs	57560	IFT80	ORPHA:93271
HP:0040064	Abnormality of limbs	57539	WDR35	ORPHA:93271
HP:0040064	Abnormality of limbs	79659	DYNC2H1	ORPHA:93271
HP:0040064	Abnormality of limbs	89891	DYNC2I2	ORPHA:93271
HP:0040064	Abnormality of limbs	374879	ZNF699	OMIM:619488
HP:0040064	Abnormality of limbs	374654	KIF7	OMIM:200990
HP:0040064	Abnormality of limbs	8318	CDC45	OMIM:617063
HP:0040064	Abnormality of limbs	51339	DACT1	ORPHA:857
HP:0040064	Abnormality of limbs	2177	FANCD2	OMIM:227646
HP:0040064	Abnormality of limbs	727857	BHLHA9	ORPHA:3329
HP:0040064	Abnormality of limbs	23133	PHF8	ORPHA:85287
HP:0040064	Abnormality of limbs	8481	OFD1	ORPHA:2750
HP:0040064	Abnormality of limbs	219844	HYLS1	OMIM:236680
HP:0040064	Abnormality of limbs	26123	TCTN3	ORPHA:2753
HP:0040064	Abnormality of limbs	26123	TCTN3	ORPHA:564
HP:0040064	Abnormality of limbs	2697	GJA1	ORPHA:2710
HP:0040064	Abnormality of limbs	3239	HOXD13	ORPHA:887
HP:0040064	Abnormality of limbs	7020	TFAP2A	OMIM:113620
HP:0040064	Abnormality of limbs	7020	TFAP2A	ORPHA:1297
HP:0040064	Abnormality of limbs	84314	TMEM107	ORPHA:564
HP:0040064	Abnormality of limbs	79867	TCTN2	ORPHA:564
HP:0040064	Abnormality of limbs	80776	B9D2	ORPHA:564
HP:0040064	Abnormality of limbs	79600	TCTN1	ORPHA:564
HP:0040064	Abnormality of limbs	57096	RPGRIP1	ORPHA:564
HP:0040064	Abnormality of limbs	79848	CSPP1	ORPHA:564
HP:0040064	Abnormality of limbs	80184	CEP290	ORPHA:564
HP:0040064	Abnormality of limbs	51259	TMEM216	ORPHA:564
HP:0040064	Abnormality of limbs	57545	CC2D2A	ORPHA:564
HP:0040064	Abnormality of limbs	79583	TMEM231	ORPHA:564
HP:0040064	Abnormality of limbs	91147	TMEM67	ORPHA:564
HP:0040064	Abnormality of limbs	79770	TXNDC15	ORPHA:564
HP:0040064	Abnormality of limbs	27077	B9D1	ORPHA:564
HP:0040064	Abnormality of limbs	23322	RPGRIP1L	ORPHA:564
HP:0040064	Abnormality of limbs	54903	MKS1	ORPHA:564
HP:0040064	Abnormality of limbs	65062	TMEM237	ORPHA:564
HP:0040064	Abnormality of limbs	10815	CPLX1	ORPHA:280
HP:0040064	Abnormality of limbs	10815	CPLX1	OMIM:194190
HP:0040064	Abnormality of limbs	54872	PIGG	ORPHA:280
HP:0040064	Abnormality of limbs	7469	NELFA	ORPHA:280
HP:0040064	Abnormality of limbs	1487	CTBP1	ORPHA:280
HP:0040064	Abnormality of limbs	1487	CTBP1	OMIM:194190
HP:0040064	Abnormality of limbs	3954	LETM1	ORPHA:280
HP:0040064	Abnormality of limbs	3954	LETM1	OMIM:194190
HP:0040064	Abnormality of limbs	7468	NSD2	ORPHA:280
HP:0040064	Abnormality of limbs	7468	NSD2	OMIM:194190
HP:0040064	Abnormality of limbs	2735	GLI1	OMIM:174400
HP:0040064	Abnormality of limbs	53834	FGFRL1	OMIM:194190
HP:0040064	Abnormality of limbs	9343	EFTUD2	OMIM:610536
HP:0040064	Abnormality of limbs	9343	EFTUD2	ORPHA:79113
HP:0040064	Abnormality of limbs	2263	FGFR2	OMIM:101200
HP:0040064	Abnormality of limbs	54332	GDAP1	OMIM:607706
HP:0040064	Abnormality of limbs	54332	GDAP1	OMIM:214400
HP:0040064	Abnormality of limbs	54332	GDAP1	OMIM:608340
HP:0040064	Abnormality of limbs	5376	PMP22	OMIM:118220
HP:0040064	Abnormality of limbs	5376	PMP22	OMIM:145900
HP:0040064	Abnormality of limbs	4747	NEFL	OMIM:607684
HP:0040064	Abnormality of limbs	3315	HSPB1	OMIM:606595
HP:0040064	Abnormality of limbs	4359	MPZ	OMIM:118200
HP:0040064	Abnormality of limbs	4359	MPZ	OMIM:145900
HP:0040064	Abnormality of limbs	1959	EGR2	OMIM:145900
HP:0040064	Abnormality of limbs	57716	PRX	OMIM:145900
HP:0040064	Abnormality of limbs	4358	MPV17	OMIM:618400
HP:0040064	Abnormality of limbs	81846	SBF2	OMIM:604563
HP:0040064	Abnormality of limbs	157570	ESCO2	OMIM:268300
HP:0040064	Abnormality of limbs	9401	RECQL4	ORPHA:1225
HP:0040064	Abnormality of limbs	6154	RPL26	OMIM:614900
HP:0040064	Abnormality of limbs	10262	SF3B4	ORPHA:1788
HP:0040064	Abnormality of limbs	1802	DPH2	OMIM:620062
HP:0040064	Abnormality of limbs	91949	COG7	OMIM:608779
HP:0040064	Abnormality of limbs	91949	COG7	ORPHA:79333
HP:0040064	Abnormality of limbs	27238	GPKOW	ORPHA:2570
HP:0040064	Abnormality of limbs	23141	ANKLE2	OMIM:616681
HP:0040064	Abnormality of limbs	29895	MYL11	OMIM:619110
HP:0040064	Abnormality of limbs	5393	EXOSC9	OMIM:618065
HP:0040064	Abnormality of limbs	55627	SMPD4	OMIM:618622
HP:0040064	Abnormality of limbs	6804	STX1A	ORPHA:904
HP:0040064	Abnormality of limbs	7461	CLIP2	ORPHA:904
HP:0040064	Abnormality of limbs	84277	DNAJC30	ORPHA:904
HP:0040064	Abnormality of limbs	8468	FKBP6	ORPHA:904
HP:0040064	Abnormality of limbs	5982	RFC2	ORPHA:904
HP:0040064	Abnormality of limbs	2969	GTF2I	ORPHA:904
HP:0040064	Abnormality of limbs	3984	LIMK1	ORPHA:904
HP:0040064	Abnormality of limbs	9569	GTF2IRD1	ORPHA:904
HP:0040064	Abnormality of limbs	155382	VPS37D	ORPHA:904
HP:0040064	Abnormality of limbs	155368	METTL27	ORPHA:904
HP:0040064	Abnormality of limbs	114049	BUD23	ORPHA:904
HP:0040064	Abnormality of limbs	7458	EIF4H	ORPHA:904
HP:0040064	Abnormality of limbs	84163	GTF2IRD2	ORPHA:904
HP:0040064	Abnormality of limbs	9275	BCL7B	ORPHA:904
HP:0040064	Abnormality of limbs	26608	TBL2	ORPHA:904
HP:0040064	Abnormality of limbs	653361	NCF1	ORPHA:904
HP:0040064	Abnormality of limbs	135886	TMEM270	ORPHA:904
HP:0040064	Abnormality of limbs	51085	MLXIPL	ORPHA:904
HP:0040064	Abnormality of limbs	9031	BAZ1B	ORPHA:904
HP:0040064	Abnormality of limbs	2006	ELN	ORPHA:904
HP:0040064	Abnormality of limbs	2006	ELN	ORPHA:90348
HP:0040064	Abnormality of limbs	5832	ALDH18A1	OMIM:616603
HP:0040064	Abnormality of limbs	5832	ALDH18A1	OMIM:219150
HP:0040064	Abnormality of limbs	5832	ALDH18A1	ORPHA:90348
HP:0040064	Abnormality of limbs	347734	SLC35B2	OMIM:620269
HP:0040064	Abnormality of limbs	1291	COL6A1	ORPHA:75840
HP:0040064	Abnormality of limbs	1292	COL6A2	ORPHA:75840
HP:0040064	Abnormality of limbs	1293	COL6A3	ORPHA:75840
HP:0040064	Abnormality of limbs	9839	ZEB2	ORPHA:261537
HP:0040064	Abnormality of limbs	9839	ZEB2	ORPHA:261552
HP:0040064	Abnormality of limbs	215	ABCD1	ORPHA:388
HP:0040064	Abnormality of limbs	5979	RET	ORPHA:388
HP:0040064	Abnormality of limbs	2668	GDNF	ORPHA:388
HP:0040064	Abnormality of limbs	6720	SREBF1	ORPHA:388
HP:0040064	Abnormality of limbs	1908	EDN3	ORPHA:388
HP:0040064	Abnormality of limbs	223117	SEMA3D	ORPHA:388
HP:0040064	Abnormality of limbs	538	ATP7A	ORPHA:388
HP:0040064	Abnormality of limbs	1910	EDNRB	ORPHA:388
HP:0040064	Abnormality of limbs	10512	SEMA3C	ORPHA:388
HP:0040064	Abnormality of limbs	2064	ERBB2	ORPHA:388
HP:0040064	Abnormality of limbs	2065	ERBB3	ORPHA:388
HP:0040064	Abnormality of limbs	4902	NRTN	ORPHA:388
HP:0040064	Abnormality of limbs	10479	SLC9A6	OMIM:300243
HP:0040064	Abnormality of limbs	10479	SLC9A6	ORPHA:85278
HP:0040064	Abnormality of limbs	91754	NEK9	OMIM:617022
HP:0040064	Abnormality of limbs	5649	RELN	ORPHA:89844
HP:0040064	Abnormality of limbs	54820	NDE1	ORPHA:89844
HP:0040064	Abnormality of limbs	58	ACTA1	ORPHA:171430
HP:0040064	Abnormality of limbs	131377	KLHL40	ORPHA:171430
HP:0040064	Abnormality of limbs	10324	KLHL41	ORPHA:171430
HP:0040064	Abnormality of limbs	56203	LMOD3	ORPHA:171430
HP:0040064	Abnormality of limbs	26227	PHGDH	OMIM:601815
HP:0040064	Abnormality of limbs	26227	PHGDH	ORPHA:79351
HP:0040064	Abnormality of limbs	202018	TAPT1	OMIM:616897
HP:0040064	Abnormality of limbs	2201	FBN2	OMIM:121050
HP:0040064	Abnormality of limbs	91869	RFT1	OMIM:612015
HP:0040064	Abnormality of limbs	2033	EP300	ORPHA:353284
HP:0040064	Abnormality of limbs	4621	MYH3	OMIM:618436
HP:0040064	Abnormality of limbs	4621	MYH3	OMIM:193700
HP:0040064	Abnormality of limbs	4621	MYH3	ORPHA:1147
HP:0040064	Abnormality of limbs	4621	MYH3	ORPHA:1146
HP:0040064	Abnormality of limbs	388015	RTL1	ORPHA:96334
HP:0040064	Abnormality of limbs	8788	DLK1	ORPHA:96334
HP:0040064	Abnormality of limbs	55384	MEG3	ORPHA:96334
HP:0040064	Abnormality of limbs	2067	ERCC1	OMIM:610758
HP:0040064	Abnormality of limbs	9179	AP4M1	OMIM:612936
HP:0040064	Abnormality of limbs	126792	B3GALT6	ORPHA:536467
HP:0040064	Abnormality of limbs	50515	CHST11	OMIM:618167
HP:0040064	Abnormality of limbs	79868	ALG13	ORPHA:324422
HP:0040064	Abnormality of limbs	259232	NALCN	OMIM:616266
HP:0040064	Abnormality of limbs	259232	NALCN	ORPHA:1147
HP:0040064	Abnormality of limbs	259232	NALCN	ORPHA:1146
HP:0040064	Abnormality of limbs	23483	TGDS	OMIM:616145
HP:0040064	Abnormality of limbs	729920	CRPPA	OMIM:614643
HP:0040064	Abnormality of limbs	7136	TNNI2	ORPHA:1147
HP:0040064	Abnormality of limbs	7136	TNNI2	ORPHA:1146
HP:0040064	Abnormality of limbs	10273	STUB1	ORPHA:412057
HP:0040064	Abnormality of limbs	1387	CREBBP	ORPHA:353277
HP:0040064	Abnormality of limbs	4604	MYBPC1	ORPHA:1146
HP:0040064	Abnormality of limbs	10516	FBLN5	ORPHA:90348
HP:0040064	Abnormality of limbs	57211	ADGRG6	OMIM:616503
HP:0040064	Abnormality of limbs	9939	RBM8A	ORPHA:3320
HP:0040064	Abnormality of limbs	9939	RBM8A	OMIM:274000
HP:0040064	Abnormality of limbs	10195	ALG3	OMIM:601110
HP:0040064	Abnormality of limbs	10943	MSL3	OMIM:301032
HP:0040064	Abnormality of limbs	9427	ECEL1	OMIM:615065
HP:0040064	Abnormality of limbs	6999	TDO2	OMIM:600627
HP:0040064	Abnormality of limbs	84896	ATAD1	OMIM:618011
HP:0040064	Abnormality of limbs	2036	EPB41L1	OMIM:614257
HP:0040064	Abnormality of limbs	51002	TPRKB	ORPHA:2065
HP:0040064	Abnormality of limbs	55644	OSGEP	ORPHA:2065
HP:0040064	Abnormality of limbs	57122	NUP107	ORPHA:2065
HP:0040064	Abnormality of limbs	10785	WDR4	ORPHA:2065
HP:0040064	Abnormality of limbs	55746	NUP133	ORPHA:2065
HP:0040064	Abnormality of limbs	8270	LAGE3	ORPHA:2065
HP:0040064	Abnormality of limbs	8367	H4C5	OMIM:619950
HP:0040064	Abnormality of limbs	9853	RUSC2	OMIM:617773
HP:0040064	Abnormality of limbs	23019	CNOT1	OMIM:619033
HP:0040064	Abnormality of limbs	26128	KIFBP	OMIM:609460
HP:0040064	Abnormality of limbs	2972	BRF1	OMIM:616202
HP:0040064	Abnormality of limbs	2972	BRF1	ORPHA:444072
HP:0040064	Abnormality of limbs	56916	SMARCAD1	OMIM:129200
HP:0040064	Abnormality of limbs	56916	SMARCAD1	OMIM:181600
HP:0040064	Abnormality of limbs	9578	CDC42BPB	OMIM:619841
HP:0040064	Abnormality of limbs	3020	H3-3A	OMIM:619720
HP:0040064	Abnormality of limbs	170302	ARX	OMIM:300004
HP:0040064	Abnormality of limbs	3021	H3-3B	OMIM:619721
HP:0040064	Abnormality of limbs	10300	KATNB1	OMIM:616212
HP:0040064	Abnormality of limbs	2624	GATA2	OMIM:614038
HP:0040064	Abnormality of limbs	55904	KMT2E	OMIM:618512
HP:0040064	Abnormality of limbs	10978	CLP1	OMIM:615803
HP:0040064	Abnormality of limbs	55650	PIGV	OMIM:239300
HP:0040064	Abnormality of limbs	65125	WNK1	ORPHA:970
HP:0040064	Abnormality of limbs	54463	RETREG1	ORPHA:970
HP:0040064	Abnormality of limbs	547	KIF1A	ORPHA:970
HP:0040064	Abnormality of limbs	547	KIF1A	ORPHA:2836
HP:0040064	Abnormality of limbs	6595	SMARCA2	OMIM:619293
HP:0040064	Abnormality of limbs	80204	FBXO11	OMIM:618089
HP:0040064	Abnormality of limbs	113189	CHST14	ORPHA:2953
HP:0040064	Abnormality of limbs	29940	DSE	ORPHA:2953
HP:0040064	Abnormality of limbs	1889	ECE1	OMIM:613870
HP:0040064	Abnormality of limbs	9326	ZNHIT3	ORPHA:2836
HP:0040064	Abnormality of limbs	9326	ZNHIT3	OMIM:260565
HP:0040064	Abnormality of limbs	2770	GNAI1	OMIM:619854
HP:0040064	Abnormality of limbs	157680	VPS13B	OMIM:216550
HP:0040064	Abnormality of limbs	157680	VPS13B	ORPHA:193
HP:0040064	Abnormality of limbs	2626	GATA4	ORPHA:251071
HP:0040064	Abnormality of limbs	84823	LMNB2	OMIM:619180
HP:0040064	Abnormality of limbs	9896	FIG4	ORPHA:3472
HP:0040064	Abnormality of limbs	9896	FIG4	OMIM:216340
HP:0040064	Abnormality of limbs	55697	VAC14	ORPHA:3472
HP:0040064	Abnormality of limbs	6792	CDKL5	OMIM:300672
HP:0040064	Abnormality of limbs	7025	NR2F1	ORPHA:401777
HP:0040064	Abnormality of limbs	7025	NR2F1	OMIM:615722
HP:0040064	Abnormality of limbs	253738	EBF3	OMIM:617330
HP:0040064	Abnormality of limbs	55699	IARS2	OMIM:616007
HP:0040064	Abnormality of limbs	8239	USP9X	ORPHA:480880
HP:0040064	Abnormality of limbs	8239	USP9X	OMIM:300968
HP:0040064	Abnormality of limbs	285175	UNC80	OMIM:616801
HP:0040064	Abnormality of limbs	79753	SNIP1	OMIM:614501
HP:0040064	Abnormality of limbs	6134	RPL10	ORPHA:459070
HP:0040064	Abnormality of limbs	6134	RPL10	OMIM:300998
HP:0040064	Abnormality of limbs	6134	RPL10	ORPHA:435938
HP:0040064	Abnormality of limbs	1859	DYRK1A	ORPHA:464311
HP:0040064	Abnormality of limbs	1859	DYRK1A	ORPHA:268261
HP:0040064	Abnormality of limbs	1303	COL12A1	ORPHA:536516
HP:0040064	Abnormality of limbs	51611	DPH5	OMIM:620070
HP:0040064	Abnormality of limbs	79813	EHMT1	ORPHA:261652
HP:0040064	Abnormality of limbs	58508	KMT2C	ORPHA:261652
HP:0040064	Abnormality of limbs	4094	MAF	ORPHA:1272
HP:0040064	Abnormality of limbs	4094	MAF	OMIM:601088
HP:0040064	Abnormality of limbs	7750	ZMYM2	OMIM:619522
HP:0040064	Abnormality of limbs	5594	MAPK1	OMIM:619087
HP:0040064	Abnormality of limbs	4849	CNOT3	OMIM:618672
HP:0040064	Abnormality of limbs	6942	TCF20	OMIM:618430
HP:0040064	Abnormality of limbs	81887	LAS1L	ORPHA:3459
HP:0040064	Abnormality of limbs	81887	LAS1L	OMIM:309585
HP:0040064	Abnormality of limbs	55869	HDAC8	ORPHA:3459
HP:0040064	Abnormality of limbs	7140	TNNT3	OMIM:618435
HP:0040064	Abnormality of limbs	6925	TCF4	OMIM:610954
HP:0040064	Abnormality of limbs	6925	TCF4	ORPHA:2896
HP:0040064	Abnormality of limbs	7030	TFE3	OMIM:301066
HP:0040064	Abnormality of limbs	546	ATRX	OMIM:309580
HP:0040064	Abnormality of limbs	546	ATRX	OMIM:301040
HP:0040064	Abnormality of limbs	84295	PHF6	ORPHA:127
HP:0040064	Abnormality of limbs	84295	PHF6	OMIM:301900
HP:0040064	Abnormality of limbs	91252	SLC39A13	ORPHA:157965
HP:0040064	Abnormality of limbs	91252	SLC39A13	OMIM:612350
HP:0040064	Abnormality of limbs	9230	RAB11B	OMIM:617807
HP:0040064	Abnormality of limbs	389827	MYMK	OMIM:254940
HP:0040064	Abnormality of limbs	10075	HUWE1	OMIM:309590
HP:0040064	Abnormality of limbs	9488	PIGB	OMIM:618580
HP:0040064	Abnormality of limbs	8243	SMC1A	OMIM:301044
HP:0040064	Abnormality of limbs	23013	SPEN	OMIM:619312
HP:0040064	Abnormality of limbs	56896	DPYSL5	OMIM:619435
HP:0040064	Abnormality of limbs	9698	PUM1	OMIM:617931
HP:0040064	Abnormality of limbs	23028	KDM1A	OMIM:616728
HP:0040064	Abnormality of limbs	23028	KDM1A	ORPHA:477993
HP:0040064	Abnormality of limbs	5575	PRKAR1B	OMIM:619680
HP:0040064	Abnormality of limbs	91179	SCARF2	OMIM:600920
HP:0040064	Abnormality of limbs	6492	SIM1	ORPHA:171829
HP:0040064	Abnormality of limbs	4953	ODC1	ORPHA:544488
HP:0040064	Abnormality of limbs	998	CDC42	OMIM:616737
HP:0040064	Abnormality of limbs	998	CDC42	ORPHA:487796
HP:0040064	Abnormality of limbs	3097	HIVEP2	OMIM:616977
HP:0040064	Abnormality of limbs	4131	MAP1B	OMIM:618918
HP:0040064	Abnormality of limbs	56915	EXOSC5	OMIM:619576
HP:0040064	Abnormality of limbs	10588	MTHFS	OMIM:618367
HP:0040064	Abnormality of limbs	63035	BCORL1	OMIM:301029
HP:0040064	Abnormality of limbs	10265	IRX5	OMIM:611174
HP:0040064	Abnormality of limbs	1108	CHD4	OMIM:617159
HP:0040064	Abnormality of limbs	91137	SLC25A46	OMIM:616505
HP:0040064	Abnormality of limbs	8604	SLC25A12	OMIM:612949
HP:0040064	Abnormality of limbs	7703	PCGF2	OMIM:618371
HP:0040064	Abnormality of limbs	83696	TRAPPC9	ORPHA:352530
HP:0040064	Abnormality of limbs	92949	ADAMTSL1	ORPHA:521445
HP:0040064	Abnormality of limbs	54551	MAGEL2	OMIM:615547
HP:0040064	Abnormality of limbs	2707	GJB3	ORPHA:317
HP:0040064	Abnormality of limbs	2531	KDSR	ORPHA:317
HP:0040064	Abnormality of limbs	127534	GJB4	ORPHA:317
HP:0040064	Abnormality of limbs	9244	CRLF1	OMIM:272430
HP:0040064	Abnormality of limbs	8812	CCNK	OMIM:618147
HP:0040064	Abnormality of limbs	112858	TP53RK	OMIM:617730
HP:0040064	Abnormality of limbs	80036	TRPM3	OMIM:620224
HP:0040064	Abnormality of limbs	8936	WASF1	OMIM:618707
HP:0040064	Abnormality of limbs	8405	SPOP	OMIM:618829
HP:0040064	Abnormality of limbs	23630	KCNE5	ORPHA:86818
HP:0040064	Abnormality of limbs	2182	ACSL4	ORPHA:86818
HP:0040064	Abnormality of limbs	9949	AMMECR1	ORPHA:86818
HP:0040064	Abnormality of limbs	11198	SUPT16H	OMIM:619480
HP:0040064	Abnormality of limbs	23067	SETD1B	OMIM:619000
HP:0040064	Abnormality of limbs	23233	EXOC6B	OMIM:618395
HP:0040064	Abnormality of limbs	5075	PAX1	OMIM:615560
HP:0040064	Abnormality of limbs	55704	CCDC88A	OMIM:617507
HP:0040064	Abnormality of limbs	1376	CPT2	OMIM:608836
HP:0040064	Abnormality of limbs	1315	COPB1	OMIM:619255
HP:0040064	Abnormality of limbs	51317	PHF21A	OMIM:618725
HP:0040064	Abnormality of limbs	1968	EIF2S3	ORPHA:85282
HP:0040064	Abnormality of limbs	5557	PRIM1	OMIM:620005
HP:0040064	Abnormality of limbs	1795	DOCK3	OMIM:618292
HP:0040064	Abnormality of limbs	3636	INPPL1	ORPHA:2746
HP:0040064	Abnormality of limbs	11342	RNF13	ORPHA:544503
HP:0040064	Abnormality of limbs	9791	PTDSS1	OMIM:151050
HP:0040064	Abnormality of limbs	9759	HDAC4	OMIM:619797
HP:0040064	Abnormality of limbs	3756	KCNH1	OMIM:135500
HP:0040064	Abnormality of limbs	57479	PRR12	OMIM:619539
HP:0040064	Abnormality of limbs	6611	SMS	OMIM:309583
HP:0040064	Abnormality of limbs	673	BRAF	OMIM:115150
HP:0040064	Abnormality of limbs	91461	PKDCC	OMIM:618821
HP:0040064	Abnormality of limbs	92344	GORAB	OMIM:231070
HP:0040064	Abnormality of limbs	54499	TMCO1	OMIM:213980
HP:0040064	Abnormality of limbs	387733	IFITM5	OMIM:610967
HP:0040064	Abnormality of limbs	51633	OTUD6B	ORPHA:505237
HP:0040064	Abnormality of limbs	23114	NFASC	OMIM:618356
HP:0040064	Abnormality of limbs	1289	COL5A1	OMIM:130000
HP:0040064	Abnormality of limbs	1278	COL1A2	OMIM:617821
HP:0040064	Abnormality of limbs	427	ASAH1	OMIM:228000
HP:0040064	Abnormality of limbs	9373	PLAA	ORPHA:521426
HP:0040064	Abnormality of limbs	2783	GNB2	OMIM:619503
HP:0040064	Abnormality of limbs	3265	HRAS	OMIM:218040
HP:0040064	Abnormality of limbs	121340	SP7	OMIM:613849
HP:0040064	Abnormality of limbs	7169	TPM2	OMIM:108120
HP:0040064	Abnormality of limbs	8506	CNTNAP1	OMIM:618186
HP:0040064	Abnormality of limbs	1020	CDK5	OMIM:616342
HP:0040064	Abnormality of limbs	56006	SMG9	OMIM:616920
HP:0040064	Abnormality of limbs	2733	GLE1	OMIM:611890
HP:0040064	Abnormality of limbs	1861	TOR1A	OMIM:618947
HP:0040064	Abnormality of limbs	55681	SCYL2	OMIM:618766
HP:0040064	Abnormality of limbs	84942	WDR73	OMIM:251300
HP:0040064	Abnormality of limbs	7841	MOGS	OMIM:606056
HP:0040064	Abnormality of limbs	4703	NEB	OMIM:256030
HP:0040064	Abnormality of limbs	23345	SYNE1	ORPHA:319332
HP:0040064	Abnormality of limbs	23299	BICD2	OMIM:618291
HP:0040064	Abnormality of limbs	2317	FLNB	ORPHA:56305
HP:0040064	Abnormality of limbs	2898	GRIK2	OMIM:619580
HP:0040064	Abnormality of limbs	57498	KIDINS220	OMIM:619501
HP:0040064	Abnormality of limbs	80816	ASXL3	OMIM:615485
HP:0040064	Abnormality of limbs	6536	SLC6A9	OMIM:617301
HP:0040064	Abnormality of limbs	51741	WWOX	OMIM:616211
HP:0040064	Abnormality of limbs	84162	BLTP1	OMIM:617822
HP:0040064	Abnormality of limbs	667	DST	OMIM:614653
HP:0040064	Abnormality of limbs	2782	GNB1	OMIM:616973
HP:0040064	Abnormality of limbs	3897	L1CAM	ORPHA:2466
HP:0040064	Abnormality of limbs	529	ATP6V1E1	OMIM:617402
HP:0040064	Abnormality of limbs	4654	MYOD1	OMIM:618975
HP:0040064	Abnormality of limbs	54676	GTPBP2	OMIM:617988
HP:0040064	Abnormality of limbs	4137	MAPT	ORPHA:240103
HP:0040064	Abnormality of limbs	10716	TBR1	ORPHA:1617
HP:0040064	Abnormality of limbs	3736	KCNA1	ORPHA:37612
HP:0040064	Abnormality of limbs	3782	KCNN3	OMIM:618658
HP:0040064	Abnormality of limbs	5063	PAK3	OMIM:300558
HP:0040064	Abnormality of limbs	6228	RPS23	OMIM:617412
HP:0040064	Abnormality of limbs	23065	EMC1	ORPHA:480898
HP:0040064	Abnormality of limbs	23065	EMC1	OMIM:616875
HP:0040064	Abnormality of limbs	1105	CHD1	OMIM:617682
HP:0040064	Abnormality of limbs	6340	SCNN1G	ORPHA:60033
HP:0040064	Abnormality of limbs	6337	SCNN1A	ORPHA:60033
HP:0040064	Abnormality of limbs	6338	SCNN1B	ORPHA:60033
HP:0040064	Abnormality of limbs	6440	SFTPC	OMIM:610913
HP:0040064	Abnormality of limbs	6439	SFTPB	OMIM:265120
HP:0040064	Abnormality of limbs	2022	ENG	OMIM:187300
HP:0040064	Abnormality of limbs	653509	SFTPA1	OMIM:619611
HP:0040064	Abnormality of limbs	6578	SLCO2A1	OMIM:614441
HP:0040064	Abnormality of limbs	738	VPS51	OMIM:618606
HP:0040064	Abnormality of limbs	56244	BTNL2	OMIM:612387
HP:0040064	Abnormality of limbs	6794	STK11	OMIM:175200
HP:0040064	Abnormality of limbs	404672	GTF2H5	ORPHA:33364
HP:0040064	Abnormality of limbs	7737	RNF113A	ORPHA:33364
HP:0040064	Abnormality of limbs	136647	MPLKIP	ORPHA:33364
HP:0040064	Abnormality of limbs	6897	TARS1	ORPHA:33364
HP:0040064	Abnormality of limbs	2071	ERCC3	ORPHA:33364
HP:0040064	Abnormality of limbs	2961	GTF2E2	ORPHA:33364
HP:0040064	Abnormality of limbs	21	ABCA3	OMIM:610921
HP:0040064	Abnormality of limbs	3858	KRT10	OMIM:609165
HP:0040064	Abnormality of limbs	25981	DNAH1	ORPHA:244
HP:0040064	Abnormality of limbs	115948	ODAD3	ORPHA:244
HP:0040064	Abnormality of limbs	54768	HYDIN	ORPHA:244
HP:0040064	Abnormality of limbs	352909	DNAAF3	ORPHA:244
HP:0040064	Abnormality of limbs	27148	STK36	ORPHA:244
HP:0040064	Abnormality of limbs	51314	NME8	ORPHA:244
HP:0040064	Abnormality of limbs	92749	DRC1	ORPHA:244
HP:0040064	Abnormality of limbs	54970	TTC12	ORPHA:244
HP:0040064	Abnormality of limbs	152110	NEK10	ORPHA:244
HP:0040064	Abnormality of limbs	2302	FOXJ1	ORPHA:244
HP:0040064	Abnormality of limbs	221421	RSPH9	ORPHA:244
HP:0040064	Abnormality of limbs	85478	CCDC65	ORPHA:244
HP:0040064	Abnormality of limbs	55036	CCDC40	ORPHA:244
HP:0040064	Abnormality of limbs	51364	ZMYND10	ORPHA:244
HP:0040064	Abnormality of limbs	64446	DNAI2	ORPHA:244
HP:0040064	Abnormality of limbs	6674	SPAG1	ORPHA:244
HP:0040064	Abnormality of limbs	83544	DNAL1	ORPHA:244
HP:0040064	Abnormality of limbs	89765	RSPH1	ORPHA:244
HP:0040064	Abnormality of limbs	83538	ODAD4	ORPHA:244
HP:0040064	Abnormality of limbs	200373	CFAP221	ORPHA:244
HP:0040064	Abnormality of limbs	374407	DNAJB13	ORPHA:244
HP:0040064	Abnormality of limbs	55172	DNAAF2	ORPHA:244
HP:0040064	Abnormality of limbs	161582	DNAAF4	ORPHA:244
HP:0040064	Abnormality of limbs	2622	GAS8	ORPHA:244
HP:0040064	Abnormality of limbs	23639	DNAAF11	ORPHA:244
HP:0040064	Abnormality of limbs	27019	DNAI1	ORPHA:244
HP:0040064	Abnormality of limbs	345895	RSPH4A	ORPHA:244
HP:0040064	Abnormality of limbs	54919	DNAAF5	ORPHA:244
HP:0040064	Abnormality of limbs	6103	RPGR	ORPHA:244
HP:0040064	Abnormality of limbs	388389	CCDC103	ORPHA:244
HP:0040064	Abnormality of limbs	93233	ODAD1	ORPHA:244
HP:0040064	Abnormality of limbs	55130	ODAD2	ORPHA:244
HP:0040064	Abnormality of limbs	1767	DNAH5	ORPHA:244
HP:0040064	Abnormality of limbs	83861	RSPH3	ORPHA:244
HP:0040064	Abnormality of limbs	345643	MCIDAS	ORPHA:244
HP:0040064	Abnormality of limbs	56683	CFAP298	ORPHA:244
HP:0040064	Abnormality of limbs	79925	SPEF2	ORPHA:244
HP:0040064	Abnormality of limbs	10309	CCNO	ORPHA:244
HP:0040064	Abnormality of limbs	115399	LRRC56	ORPHA:244
HP:0040064	Abnormality of limbs	139212	DNAAF6	ORPHA:244
HP:0040064	Abnormality of limbs	123872	DNAAF1	ORPHA:244
HP:0040064	Abnormality of limbs	85016	CFAP300	ORPHA:244
HP:0040064	Abnormality of limbs	339829	CCDC39	ORPHA:244
HP:0040064	Abnormality of limbs	8701	DNAH11	ORPHA:244
HP:0040064	Abnormality of limbs	1770	DNAH9	ORPHA:244
HP:0040064	Abnormality of limbs	246176	GAS2L2	ORPHA:244
HP:0040064	Abnormality of limbs	1604	CD55	OMIM:226300
HP:0040064	Abnormality of limbs	10892	MALT1	OMIM:615468
HP:0040064	Abnormality of limbs	3955	LFNG	OMIM:609813
HP:0040064	Abnormality of limbs	10525	HYOU1	OMIM:233600
HP:0040064	Abnormality of limbs	2138	EYA1	OMIM:113650
HP:0040064	Abnormality of limbs	6495	SIX1	OMIM:113650
HP:0040064	Abnormality of limbs	1131	CHRM3	ORPHA:2970
HP:0040064	Abnormality of limbs	1131	CHRM3	OMIM:100100
HP:0040064	Abnormality of limbs	6904	TBCD	ORPHA:496641
HP:0040064	Abnormality of limbs	5528	PPP2R5D	ORPHA:457279
HP:0040064	Abnormality of limbs	5528	PPP2R5D	OMIM:616355
HP:0040064	Abnormality of limbs	50628	GEMIN4	OMIM:617913
HP:0040064	Abnormality of limbs	7067	THRA	OMIM:614450
HP:0040064	Abnormality of limbs	1499	CTNNB1	OMIM:615075
HP:0040064	Abnormality of limbs	9181	ARHGEF2	OMIM:617523
HP:0040064	Abnormality of limbs	9091	PIGQ	ORPHA:1934
HP:0040064	Abnormality of limbs	2775	GNAO1	ORPHA:1934
HP:0040064	Abnormality of limbs	2902	GRIN1	ORPHA:1934
HP:0040064	Abnormality of limbs	79751	SLC25A22	ORPHA:1934
HP:0040064	Abnormality of limbs	150094	SIK1	ORPHA:1934
HP:0040064	Abnormality of limbs	8573	CASK	ORPHA:1934
HP:0040064	Abnormality of limbs	23312	DMXL2	ORPHA:1934
HP:0040064	Abnormality of limbs	2917	GRM7	ORPHA:1934
HP:0040064	Abnormality of limbs	51227	PIGP	ORPHA:1934
HP:0040064	Abnormality of limbs	4761	NEUROD2	ORPHA:1934
HP:0040064	Abnormality of limbs	54941	RNF125	OMIM:616260
HP:0040064	Abnormality of limbs	10984	KCNQ1OT1	OMIM:130650
HP:0040064	Abnormality of limbs	10984	KCNQ1OT1	ORPHA:2128
HP:0040064	Abnormality of limbs	3784	KCNQ1	OMIM:130650
HP:0040064	Abnormality of limbs	208	AKT2	OMIM:240900
HP:0040064	Abnormality of limbs	208	AKT2	ORPHA:293964
HP:0040064	Abnormality of limbs	6928	HNF1B	ORPHA:1309
HP:0040064	Abnormality of limbs	6873	TAF2	OMIM:615599
HP:0040064	Abnormality of limbs	6873	TAF2	ORPHA:397951
HP:0040064	Abnormality of limbs	6571	SLC18A2	ORPHA:352649
HP:0040064	Abnormality of limbs	80025	PANK2	OMIM:234200
HP:0040064	Abnormality of limbs	7443	VRK1	OMIM:607596
HP:0040064	Abnormality of limbs	1107	CHD3	OMIM:618205
HP:0040064	Abnormality of limbs	23769	FLRT1	ORPHA:320406
HP:0040064	Abnormality of limbs	6535	SLC6A8	OMIM:300352
HP:0040064	Abnormality of limbs	5111	PCNA	OMIM:615919
HP:0040064	Abnormality of limbs	80232	WDR26	ORPHA:513456
HP:0040064	Abnormality of limbs	80232	WDR26	OMIM:617616
HP:0040064	Abnormality of limbs	128486	FITM2	OMIM:618635
HP:0040064	Abnormality of limbs	55154	MSTO1	OMIM:617675
HP:0040064	Abnormality of limbs	55154	MSTO1	ORPHA:502423
HP:0040064	Abnormality of limbs	27072	VPS41	ORPHA:95434
HP:0040064	Abnormality of limbs	7274	TTPA	ORPHA:96
HP:0040064	Abnormality of limbs	2903	GRIN2A	ORPHA:289266
HP:0040064	Abnormality of limbs	2903	GRIN2A	OMIM:245570
HP:0040064	Abnormality of limbs	2629	GBA1	OMIM:231005
HP:0040064	Abnormality of limbs	2629	GBA1	ORPHA:2072
HP:0040064	Abnormality of limbs	54840	APTX	OMIM:208920
HP:0040064	Abnormality of limbs	3475	IFRD1	ORPHA:98771
HP:0040064	Abnormality of limbs	2259	FGF14	ORPHA:98764
HP:0040064	Abnormality of limbs	2259	FGF14	OMIM:193003
HP:0040064	Abnormality of limbs	390594	KBTBD13	ORPHA:171439
HP:0040064	Abnormality of limbs	85021	REPS1	OMIM:617916
HP:0040064	Abnormality of limbs	51308	REEP2	OMIM:615625
HP:0040064	Abnormality of limbs	51308	REEP2	ORPHA:401849
HP:0040064	Abnormality of limbs	23064	SETX	OMIM:606002
HP:0040064	Abnormality of limbs	23064	SETX	ORPHA:357043
HP:0040064	Abnormality of limbs	5610	EIF2AK2	OMIM:619687
HP:0040064	Abnormality of limbs	5160	PDHA1	ORPHA:79243
HP:0040064	Abnormality of limbs	7507	XPA	OMIM:278700
HP:0040064	Abnormality of limbs	26047	CNTNAP2	ORPHA:163681
HP:0040064	Abnormality of limbs	5420	PODXL	ORPHA:391411
HP:0040064	Abnormality of limbs	9516	LITAF	OMIM:601098
HP:0040064	Abnormality of limbs	3920	LAMP2	OMIM:300257
HP:0040064	Abnormality of limbs	54936	ADPRS	OMIM:618170
HP:0040064	Abnormality of limbs	55753	OGDHL	OMIM:619701
HP:0040064	Abnormality of limbs	9570	GOSR2	OMIM:614018
HP:0040064	Abnormality of limbs	50846	DHH	ORPHA:168563
HP:0040064	Abnormality of limbs	3008	H1-4	OMIM:617537
HP:0040064	Abnormality of limbs	4487	MSX1	ORPHA:199302
HP:0040064	Abnormality of limbs	64412	GZF1	OMIM:617662
HP:0040064	Abnormality of limbs	129685	TAF8	OMIM:619972
HP:0040064	Abnormality of limbs	7862	BRPF1	OMIM:617333
HP:0040064	Abnormality of limbs	286	ANK1	ORPHA:251066
HP:0040064	Abnormality of limbs	8898	MTMR2	OMIM:601382
HP:0040064	Abnormality of limbs	6901	TAFAZZIN	OMIM:302060
HP:0040064	Abnormality of limbs	9256	TSPOAP1	ORPHA:101150
HP:0040064	Abnormality of limbs	7054	TH	ORPHA:101150
HP:0040064	Abnormality of limbs	1491	CTH	ORPHA:212
HP:0040064	Abnormality of limbs	3039	HBA1	ORPHA:98791
HP:0040064	Abnormality of limbs	3040	HBA2	ORPHA:98791
HP:0040064	Abnormality of limbs	2571	GAD1	OMIM:619124
HP:0040064	Abnormality of limbs	80267	EDEM3	OMIM:619493
HP:0040064	Abnormality of limbs	25793	FBXO7	OMIM:260300
HP:0040064	Abnormality of limbs	25793	FBXO7	ORPHA:171695
HP:0040064	Abnormality of limbs	55788	LMBRD1	OMIM:277380
HP:0040064	Abnormality of limbs	55670	PEX26	OMIM:614872
HP:0040064	Abnormality of limbs	55679	LIMS2	OMIM:616827
HP:0040064	Abnormality of limbs	6622	SNCA	ORPHA:171695
HP:0040064	Abnormality of limbs	2891	GRIA2	OMIM:618917
HP:0040064	Abnormality of limbs	4929	NR4A2	ORPHA:98808
HP:0040064	Abnormality of limbs	3615	IMPDH2	ORPHA:98808
HP:0040064	Abnormality of limbs	953	ENTPD1	OMIM:615683
HP:0040064	Abnormality of limbs	55191	NADSYN1	OMIM:618845
HP:0040064	Abnormality of limbs	1807	DPYS	OMIM:222748
HP:0040064	Abnormality of limbs	2904	GRIN2B	OMIM:613970
HP:0040064	Abnormality of limbs	7436	VLDLR	OMIM:224050
HP:0040064	Abnormality of limbs	1801	DPH1	OMIM:616901
HP:0040064	Abnormality of limbs	1801	DPH1	ORPHA:459061
HP:0040064	Abnormality of limbs	1183	CLCN4	ORPHA:485350
HP:0040064	Abnormality of limbs	10484	SEC23A	OMIM:607812
HP:0040064	Abnormality of limbs	10484	SEC23A	ORPHA:50814
HP:0040064	Abnormality of limbs	23203	PMPCA	ORPHA:1170
HP:0040064	Abnormality of limbs	3340	NDST1	OMIM:616116
HP:0040064	Abnormality of limbs	124512	METTL23	OMIM:615942
HP:0040064	Abnormality of limbs	175	AGA	ORPHA:93
HP:0040064	Abnormality of limbs	55621	TRMT1	OMIM:618302
HP:0040064	Abnormality of limbs	55773	TBC1D23	OMIM:617695
HP:0040064	Abnormality of limbs	57680	CHD8	OMIM:615032
HP:0040064	Abnormality of limbs	8363	H4C11	OMIM:619759
HP:0040064	Abnormality of limbs	200424	TET3	OMIM:618798
HP:0040064	Abnormality of limbs	2542	SLC37A4	OMIM:619525
HP:0040064	Abnormality of limbs	254065	BRWD3	OMIM:300659
HP:0040064	Abnormality of limbs	10371	SEMA3A	ORPHA:478
HP:0040064	Abnormality of limbs	81848	SPRY4	ORPHA:478
HP:0040064	Abnormality of limbs	23767	FLRT3	ORPHA:478
HP:0040064	Abnormality of limbs	79625	NDNF	ORPHA:478
HP:0040064	Abnormality of limbs	389549	FEZF1	ORPHA:478
HP:0040064	Abnormality of limbs	1630	DCC	ORPHA:478
HP:0040064	Abnormality of limbs	3730	ANOS1	ORPHA:478
HP:0040064	Abnormality of limbs	54756	IL17RD	ORPHA:478
HP:0040064	Abnormality of limbs	6663	SOX10	ORPHA:478
HP:0040064	Abnormality of limbs	285025	CCDC141	ORPHA:478
HP:0040064	Abnormality of limbs	60675	PROK2	ORPHA:478
HP:0040064	Abnormality of limbs	1848	DUSP6	ORPHA:478
HP:0040064	Abnormality of limbs	6870	TACR3	ORPHA:478
HP:0040064	Abnormality of limbs	8822	FGF17	ORPHA:478
HP:0040064	Abnormality of limbs	2290	FOXG1	OMIM:613454
HP:0040064	Abnormality of limbs	7707	ZNF148	OMIM:617260
HP:0040064	Abnormality of limbs	55033	FKBP14	OMIM:614557
HP:0040064	Abnormality of limbs	55033	FKBP14	ORPHA:300179
HP:0040064	Abnormality of limbs	6301	SARS1	OMIM:617709
HP:0040064	Abnormality of limbs	57551	TAOK1	OMIM:619575
HP:0040064	Abnormality of limbs	191	AHCY	ORPHA:88618
HP:0040064	Abnormality of limbs	10220	GDF11	OMIM:619122
HP:0040064	Abnormality of limbs	1984	EIF5A	OMIM:619376
HP:0040064	Abnormality of limbs	8665	EIF3F	OMIM:618295
HP:0040064	Abnormality of limbs	112	ADCY6	OMIM:616287
HP:0040064	Abnormality of limbs	50717	DCAF8	OMIM:610100
HP:0040064	Abnormality of limbs	11261	CHP1	OMIM:618438
HP:0040064	Abnormality of limbs	168667	BMPER	OMIM:608022
HP:0040064	Abnormality of limbs	26090	ABHD12	OMIM:612674
HP:0040064	Abnormality of limbs	7920	ABHD16A	OMIM:619735
HP:0040064	Abnormality of limbs	26235	FBXL4	OMIM:615471
HP:0040064	Abnormality of limbs	22854	NTNG1	ORPHA:3095
HP:0040064	Abnormality of limbs	2590	GALNT2	OMIM:618885
HP:0040064	Abnormality of limbs	6045	RNF2	OMIM:619460
HP:0040064	Abnormality of limbs	3800	KIF5C	OMIM:615282
HP:0040064	Abnormality of limbs	84879	MFSD2A	OMIM:616486
HP:0040064	Abnormality of limbs	23040	MYT1L	OMIM:616521
HP:0040064	Abnormality of limbs	10730	YME1L1	OMIM:617302
HP:0040064	Abnormality of limbs	81839	VANGL1	OMIM:600145
HP:0040064	Abnormality of limbs	1496	CTNNA2	OMIM:618174
HP:0040064	Abnormality of limbs	58497	PRUNE1	ORPHA:544469
HP:0040064	Abnormality of limbs	246329	STAC3	OMIM:255995
HP:0040064	Abnormality of limbs	57165	GJC2	ORPHA:79452
HP:0040064	Abnormality of limbs	132	ADK	OMIM:614300
HP:0040064	Abnormality of limbs	27031	NPHP3	OMIM:267010
HP:0040064	Abnormality of limbs	5896	RAG1	ORPHA:39041
HP:0040064	Abnormality of limbs	5897	RAG2	ORPHA:39041
HP:0040064	Abnormality of limbs	64421	DCLRE1C	ORPHA:39041
HP:0040064	Abnormality of limbs	3575	IL7R	ORPHA:39041
HP:0040064	Abnormality of limbs	3561	IL2RG	ORPHA:39041
HP:0040064	Abnormality of limbs	23265	EXOC7	OMIM:619072
HP:0040064	Abnormality of limbs	9928	KIF14	OMIM:616258
HP:0040064	Abnormality of limbs	91647	ATPAF2	OMIM:604273
HP:0040064	Abnormality of limbs	118987	PDZD8	OMIM:620021
HP:0040064	Abnormality of limbs	79228	THOC6	ORPHA:363444
HP:0040064	Abnormality of limbs	54916	TMEM260	OMIM:617478
HP:0040064	Abnormality of limbs	26173	INTS1	OMIM:618571
HP:0040064	Abnormality of limbs	55656	INTS8	OMIM:618572
HP:0040064	Abnormality of limbs	1349	COX7B	OMIM:300887
HP:0040064	Abnormality of limbs	6049	RNF6	ORPHA:99977
HP:0040064	Abnormality of limbs	9940	DLEC1	ORPHA:99977
HP:0040064	Abnormality of limbs	23498	HAAO	OMIM:617660
HP:0040064	Abnormality of limbs	55640	FLVCR2	OMIM:225790
HP:0040064	Abnormality of limbs	1760	DMPK	ORPHA:589821
HP:0040064	Abnormality of limbs	63894	VIPAS39	OMIM:613404
HP:0040064	Abnormality of limbs	340075	ARSI	ORPHA:401815
HP:0040064	Abnormality of limbs	2643	GCH1	OMIM:233910
HP:0040064	Abnormality of limbs	25977	NECAP1	OMIM:615833
HP:0040064	Abnormality of limbs	25977	NECAP1	ORPHA:442835
HP:0040064	Abnormality of limbs	27286	SRPX2	ORPHA:98889
HP:0040064	Abnormality of limbs	6697	SPR	ORPHA:70594
HP:0040064	Abnormality of limbs	80222	TARS2	OMIM:615918
HP:0040064	Abnormality of limbs	1161	ERCC8	ORPHA:90322
HP:0040064	Abnormality of limbs	7343	UBTF	ORPHA:500180
HP:0040064	Abnormality of limbs	111	ADCY5	OMIM:606703
HP:0040064	Abnormality of limbs	111	ADCY5	ORPHA:324588
HP:0040064	Abnormality of limbs	6531	SLC6A3	ORPHA:238455
HP:0040064	Abnormality of limbs	56521	DNAJC12	OMIM:617384
HP:0040064	Abnormality of limbs	64801	ARV1	OMIM:617020
HP:0040064	Abnormality of limbs	64801	ARV1	ORPHA:442835
HP:0040064	Abnormality of limbs	440138	ALG11	ORPHA:280071
HP:0040064	Abnormality of limbs	23310	NCAPD3	OMIM:617984
HP:0040064	Abnormality of limbs	9562	MINPP1	OMIM:619527
HP:0040064	Abnormality of limbs	1644	DDC	OMIM:608643
HP:0040064	Abnormality of limbs	9829	DNAJC6	OMIM:615528
HP:0040064	Abnormality of limbs	60386	SLC25A19	OMIM:607196
HP:0040064	Abnormality of limbs	60386	SLC25A19	ORPHA:99742
HP:0040064	Abnormality of limbs	55691	FRMD4A	ORPHA:466688
HP:0040064	Abnormality of limbs	9101	USP8	ORPHA:401795
HP:0040064	Abnormality of limbs	4718	NDUFC2	OMIM:619170
HP:0040064	Abnormality of limbs	5805	PTS	OMIM:261640
HP:0040064	Abnormality of limbs	23221	RHOBTB2	OMIM:618004
HP:0040064	Abnormality of limbs	4704	NDUFA9	OMIM:618247
HP:0040064	Abnormality of limbs	10463	SLC30A9	OMIM:617595
HP:0040064	Abnormality of limbs	8120	AP3B2	OMIM:617276
HP:0040064	Abnormality of limbs	8120	AP3B2	ORPHA:442835
HP:0040064	Abnormality of limbs	5095	PCCA	OMIM:606054
HP:0040064	Abnormality of limbs	5096	PCCB	OMIM:606054
HP:0040064	Abnormality of limbs	57599	WDR48	ORPHA:401800
HP:0040064	Abnormality of limbs	2906	GRIN2D	OMIM:617162
HP:0040064	Abnormality of limbs	2906	GRIN2D	ORPHA:442835
HP:0040064	Abnormality of limbs	6785	ELOVL4	OMIM:614457
HP:0040064	Abnormality of limbs	3737	KCNA2	ORPHA:442835
HP:0040064	Abnormality of limbs	1759	DNM1	ORPHA:442835
HP:0040064	Abnormality of limbs	10991	SLC38A3	ORPHA:442835
HP:0040064	Abnormality of limbs	51343	FZR1	ORPHA:442835
HP:0040064	Abnormality of limbs	22906	TRAK1	ORPHA:442835
HP:0040064	Abnormality of limbs	1917	EEF1A2	ORPHA:442835
HP:0040064	Abnormality of limbs	2561	GABRB2	ORPHA:442835
HP:0040064	Abnormality of limbs	7532	YWHAG	ORPHA:442835
HP:0040064	Abnormality of limbs	79876	UBA5	ORPHA:442835
HP:0040064	Abnormality of limbs	6328	SCN3A	ORPHA:442835
HP:0040064	Abnormality of limbs	2558	GABRA5	ORPHA:442835
HP:0040064	Abnormality of limbs	781	CACNA2D1	ORPHA:442835
HP:0040064	Abnormality of limbs	116150	NUS1	ORPHA:442835
HP:0040064	Abnormality of limbs	10659	CELF2	ORPHA:442835
HP:0040064	Abnormality of limbs	774	CACNA1B	ORPHA:442835
HP:0040064	Abnormality of limbs	1213	CLTC	ORPHA:442835
HP:0040064	Abnormality of limbs	23334	SZT2	ORPHA:442835
HP:0040064	Abnormality of limbs	6506	SLC1A2	ORPHA:442835
HP:0040064	Abnormality of limbs	8867	SYNJ1	ORPHA:442835
HP:0040064	Abnormality of limbs	3745	KCNB1	ORPHA:442835
HP:0040064	Abnormality of limbs	284111	SLC13A5	ORPHA:442835
HP:0040064	Abnormality of limbs	284111	SLC13A5	OMIM:615905
HP:0040064	Abnormality of limbs	6334	SCN8A	ORPHA:442835
HP:0040064	Abnormality of limbs	22866	CNKSR2	ORPHA:442835
HP:0040064	Abnormality of limbs	9568	GABBR2	ORPHA:442835
HP:0040064	Abnormality of limbs	2555	GABRA2	ORPHA:442835
HP:0040064	Abnormality of limbs	55152	DALRD3	ORPHA:442835
HP:0040064	Abnormality of limbs	26999	CYFIP2	ORPHA:442835
HP:0040064	Abnormality of limbs	4915	NTRK2	ORPHA:442835
HP:0040064	Abnormality of limbs	25973	PARS2	ORPHA:442835
HP:0040064	Abnormality of limbs	23097	CDK19	ORPHA:442835
HP:0040064	Abnormality of limbs	79947	DHDDS	ORPHA:442835
HP:0040064	Abnormality of limbs	2257	FGF12	ORPHA:442835
HP:0040064	Abnormality of limbs	59336	PRDM13	OMIM:619909
HP:0040064	Abnormality of limbs	4099	MAG	OMIM:616680
HP:0040064	Abnormality of limbs	2395	FXN	OMIM:229300
HP:0040064	Abnormality of limbs	2395	FXN	ORPHA:95
HP:0040064	Abnormality of limbs	5631	PRPS1	OMIM:311070
HP:0040064	Abnormality of limbs	4618	MYF6	ORPHA:169189
HP:0040064	Abnormality of limbs	6548	SLC9A1	OMIM:616291
HP:0040064	Abnormality of limbs	5611	DNAJC3	OMIM:616192
HP:0040064	Abnormality of limbs	5611	DNAJC3	ORPHA:445062
HP:0040064	Abnormality of limbs	374393	FAM111B	OMIM:615704
HP:0040064	Abnormality of limbs	22868	FASTKD2	OMIM:618855
HP:0040064	Abnormality of limbs	2517	FUCA1	OMIM:230000
HP:0040064	Abnormality of limbs	65992	DDRGK1	OMIM:602557
HP:0040064	Abnormality of limbs	755	CFAP410	OMIM:602271
HP:0040064	Abnormality of limbs	5176	SERPINF1	OMIM:613982
HP:0040064	Abnormality of limbs	10216	PRG4	ORPHA:2848
HP:0040064	Abnormality of limbs	10216	PRG4	OMIM:208250
HP:0040064	Abnormality of limbs	11014	KDELR2	OMIM:619131
HP:0040064	Abnormality of limbs	23545	ATP6V0A2	ORPHA:2834
HP:0040064	Abnormality of limbs	23545	ATP6V0A2	OMIM:278250
HP:0040064	Abnormality of limbs	10491	CRTAP	OMIM:610682
HP:0040064	Abnormality of limbs	6137	RPL13	OMIM:618728
HP:0040064	Abnormality of limbs	9509	ADAMTS2	ORPHA:1901
HP:0040064	Abnormality of limbs	5830	PEX5	OMIM:616716
HP:0040064	Abnormality of limbs	1277	COL1A1	ORPHA:1899
HP:0040064	Abnormality of limbs	4318	MMP9	ORPHA:1040
HP:0040064	Abnormality of limbs	1294	COL7A1	ORPHA:158673
HP:0040064	Abnormality of limbs	8074	FGF23	OMIM:193100
HP:0040064	Abnormality of limbs	1756	DMD	ORPHA:98895
HP:0040064	Abnormality of limbs	368	ABCC6	ORPHA:51608
HP:0040064	Abnormality of limbs	3248	HPGD	ORPHA:1525
HP:0040064	Abnormality of limbs	7132	TNFRSF1A	ORPHA:329967
HP:0040064	Abnormality of limbs	8292	COLQ	ORPHA:98915
HP:0040064	Abnormality of limbs	3913	LAMB2	ORPHA:98915
HP:0040064	Abnormality of limbs	1299	COL9A3	ORPHA:166002
HP:0040064	Abnormality of limbs	10717	AP4B1	ORPHA:280763
HP:0040064	Abnormality of limbs	10717	AP4B1	OMIM:614066
HP:0040064	Abnormality of limbs	11154	AP4S1	ORPHA:280763
HP:0040064	Abnormality of limbs	23431	AP4E1	ORPHA:280763
HP:0040064	Abnormality of limbs	4123	MAN2C1	OMIM:619775
HP:0040064	Abnormality of limbs	2892	GRIA3	ORPHA:364028
HP:0040064	Abnormality of limbs	57192	MCOLN1	ORPHA:578
HP:0040064	Abnormality of limbs	11146	GLMN	ORPHA:83454
HP:0040064	Abnormality of limbs	57562	CEP126	ORPHA:65684
HP:0040064	Abnormality of limbs	2767	GNA11	ORPHA:1556
HP:0040064	Abnormality of limbs	151188	ARL6IP6	ORPHA:1556
HP:0040064	Abnormality of limbs	10082	GPC6	ORPHA:93329
HP:0040064	Abnormality of limbs	7040	TGFB1	ORPHA:1328
HP:0040064	Abnormality of limbs	6916	TBXAS1	ORPHA:1802
HP:0040064	Abnormality of limbs	55703	POLR3B	OMIM:614381
HP:0040064	Abnormality of limbs	79796	ALG9	OMIM:608776
HP:0040064	Abnormality of limbs	6662	SOX9	ORPHA:140
HP:0040064	Abnormality of limbs	6662	SOX9	OMIM:114290
HP:0040064	Abnormality of limbs	55784	MCTP2	ORPHA:1596
HP:0040064	Abnormality of limbs	8085	KMT2D	ORPHA:2322
HP:0040064	Abnormality of limbs	5831	PYCR1	OMIM:614438
HP:0040064	Abnormality of limbs	5831	PYCR1	ORPHA:2078
HP:0040064	Abnormality of limbs	16	AARS1	OMIM:616339
HP:0040064	Abnormality of limbs	51010	EXOSC3	OMIM:614678
HP:0040064	Abnormality of limbs	9915	ARNT2	OMIM:615926
HP:0040064	Abnormality of limbs	4626	MYH8	ORPHA:3377
HP:0040064	Abnormality of limbs	4626	MYH8	OMIM:158300
HP:0040064	Abnormality of limbs	324	APC	ORPHA:3258
HP:0040064	Abnormality of limbs	23499	MACF1	ORPHA:572013
HP:0040064	Abnormality of limbs	387119	CEP85L	ORPHA:572013
HP:0040064	Abnormality of limbs	64135	IFIH1	OMIM:182250
HP:0040064	Abnormality of limbs	1351	COX8A	OMIM:619059
HP:0040064	Abnormality of limbs	2530	FUT8	OMIM:618005
HP:0040064	Abnormality of limbs	3572	IL6ST	OMIM:618523
HP:0040064	Abnormality of limbs	25778	DSTYK	ORPHA:101003
HP:0040064	Abnormality of limbs	1290	COL5A2	ORPHA:287
HP:0040064	Abnormality of limbs	57531	HACE1	ORPHA:464282
HP:0040064	Abnormality of limbs	57531	HACE1	OMIM:616756
HP:0040064	Abnormality of limbs	2743	GLRB	ORPHA:3197
HP:0040064	Abnormality of limbs	2741	GLRA1	ORPHA:3197
HP:0040064	Abnormality of limbs	2741	GLRA1	OMIM:149400
HP:0040064	Abnormality of limbs	10243	GPHN	ORPHA:3197
HP:0040064	Abnormality of limbs	10243	GPHN	OMIM:149400
HP:0040064	Abnormality of limbs	9152	SLC6A5	ORPHA:3197
HP:0040064	Abnormality of limbs	22872	SEC31A	OMIM:618651
HP:0040064	Abnormality of limbs	26175	LYSET	OMIM:619345
HP:0040064	Abnormality of limbs	28514	DLL1	ORPHA:93926
HP:0040064	Abnormality of limbs	28514	DLL1	ORPHA:93924
HP:0040064	Abnormality of limbs	28514	DLL1	ORPHA:93925
HP:0040064	Abnormality of limbs	28514	DLL1	ORPHA:220386
HP:0040064	Abnormality of limbs	2253	FGF8	ORPHA:93926
HP:0040064	Abnormality of limbs	2253	FGF8	ORPHA:93924
HP:0040064	Abnormality of limbs	2253	FGF8	ORPHA:93925
HP:0040064	Abnormality of limbs	2253	FGF8	ORPHA:220386
HP:0040064	Abnormality of limbs	6496	SIX3	ORPHA:93926
HP:0040064	Abnormality of limbs	6496	SIX3	ORPHA:93924
HP:0040064	Abnormality of limbs	6496	SIX3	ORPHA:93925
HP:0040064	Abnormality of limbs	6496	SIX3	ORPHA:220386
HP:0040064	Abnormality of limbs	7050	TGIF1	ORPHA:93926
HP:0040064	Abnormality of limbs	7050	TGIF1	ORPHA:93924
HP:0040064	Abnormality of limbs	7050	TGIF1	ORPHA:93925
HP:0040064	Abnormality of limbs	7050	TGIF1	ORPHA:220386
HP:0040064	Abnormality of limbs	4838	NODAL	ORPHA:93926
HP:0040064	Abnormality of limbs	4838	NODAL	ORPHA:93924
HP:0040064	Abnormality of limbs	4838	NODAL	ORPHA:93925
HP:0040064	Abnormality of limbs	4838	NODAL	ORPHA:220386
HP:0040064	Abnormality of limbs	7546	ZIC2	ORPHA:93926
HP:0040064	Abnormality of limbs	7546	ZIC2	ORPHA:93924
HP:0040064	Abnormality of limbs	7546	ZIC2	ORPHA:93925
HP:0040064	Abnormality of limbs	7546	ZIC2	ORPHA:220386
HP:0040064	Abnormality of limbs	6491	STIL	ORPHA:93926
HP:0040064	Abnormality of limbs	6491	STIL	ORPHA:93924
HP:0040064	Abnormality of limbs	6491	STIL	ORPHA:93925
HP:0040064	Abnormality of limbs	6491	STIL	ORPHA:220386
HP:0040064	Abnormality of limbs	2619	GAS1	ORPHA:93926
HP:0040064	Abnormality of limbs	2619	GAS1	ORPHA:93924
HP:0040064	Abnormality of limbs	2619	GAS1	ORPHA:93925
HP:0040064	Abnormality of limbs	2619	GAS1	ORPHA:220386
HP:0040064	Abnormality of limbs	84976	DISP1	ORPHA:93926
HP:0040064	Abnormality of limbs	84976	DISP1	ORPHA:93924
HP:0040064	Abnormality of limbs	84976	DISP1	ORPHA:93925
HP:0040064	Abnormality of limbs	84976	DISP1	ORPHA:220386
HP:0040064	Abnormality of limbs	8928	FOXH1	ORPHA:93926
HP:0040064	Abnormality of limbs	8928	FOXH1	ORPHA:93924
HP:0040064	Abnormality of limbs	8928	FOXH1	ORPHA:93925
HP:0040064	Abnormality of limbs	8928	FOXH1	ORPHA:220386
HP:0040064	Abnormality of limbs	50937	CDON	ORPHA:93926
HP:0040064	Abnormality of limbs	50937	CDON	ORPHA:93924
HP:0040064	Abnormality of limbs	50937	CDON	ORPHA:93925
HP:0040064	Abnormality of limbs	50937	CDON	ORPHA:220386
HP:0040064	Abnormality of limbs	23007	PLCH1	ORPHA:93925
HP:0040064	Abnormality of limbs	23443	SLC35A3	OMIM:615553
HP:0040064	Abnormality of limbs	23443	SLC35A3	ORPHA:370943
HP:0040064	Abnormality of limbs	145258	GSC	OMIM:602471
HP:0040064	Abnormality of limbs	10269	ZMPSTE24	ORPHA:740
HP:0040064	Abnormality of limbs	78989	COLEC11	OMIM:265050
HP:0040064	Abnormality of limbs	78989	COLEC11	ORPHA:293843
HP:0040064	Abnormality of limbs	3251	HPRT1	OMIM:300322
HP:0040064	Abnormality of limbs	10584	COLEC10	ORPHA:293843
HP:0040064	Abnormality of limbs	26229	B3GAT3	OMIM:245600
HP:0040064	Abnormality of limbs	523	ATP6V1A	OMIM:617403
HP:0040064	Abnormality of limbs	81603	TRIM8	OMIM:619428
HP:0040064	Abnormality of limbs	1497	CTNS	OMIM:219800
HP:0040064	Abnormality of limbs	7421	VDR	ORPHA:93160
HP:0040064	Abnormality of limbs	7360	UGP2	OMIM:618744
HP:0040064	Abnormality of limbs	815	CAMK2A	OMIM:617798
HP:0040064	Abnormality of limbs	10381	TUBB3	ORPHA:300570
HP:0040064	Abnormality of limbs	83480	PUS3	ORPHA:488627
HP:0040064	Abnormality of limbs	1588	CYP19A1	ORPHA:91
HP:0040064	Abnormality of limbs	3043	HBB	ORPHA:231214
HP:0040064	Abnormality of limbs	3043	HBB	ORPHA:231226
HP:0040064	Abnormality of limbs	9394	HS6ST1	OMIM:614880
HP:0040064	Abnormality of limbs	84695	LOXL3	ORPHA:250984
HP:0040064	Abnormality of limbs	8600	TNFSF11	OMIM:259710
HP:0040064	Abnormality of limbs	10466	COG5	ORPHA:263487
HP:0040064	Abnormality of limbs	8882	ZPR1	OMIM:619321
HP:0040064	Abnormality of limbs	137682	NDUFAF6	OMIM:618913
HP:0040064	Abnormality of limbs	153642	ARSK	OMIM:619698
HP:0040064	Abnormality of limbs	5605	MAP2K2	ORPHA:1340
HP:0040064	Abnormality of limbs	54681	P4HTM	OMIM:618493
HP:0040064	Abnormality of limbs	6424	SFRP4	OMIM:265900
HP:0040064	Abnormality of limbs	2588	GALNS	OMIM:253000
HP:0040064	Abnormality of limbs	80152	CENPT	OMIM:618702
HP:0040064	Abnormality of limbs	2990	GUSB	OMIM:253220
HP:0040064	Abnormality of limbs	80169	CTC1	OMIM:612199
HP:0040064	Abnormality of limbs	871	SERPINH1	OMIM:613848
HP:0040064	Abnormality of limbs	5828	PEX2	OMIM:614866
HP:0040064	Abnormality of limbs	23395	LARS2	OMIM:615300
HP:0040064	Abnormality of limbs	284403	WDR62	OMIM:604317
HP:0040064	Abnormality of limbs	5442	POLRMT	OMIM:619743
HP:0040064	Abnormality of limbs	1962	EHHADH	OMIM:615605
HP:0040064	Abnormality of limbs	6569	SLC34A1	ORPHA:157215
HP:0040064	Abnormality of limbs	25885	POLR1A	OMIM:616462
HP:0040064	Abnormality of limbs	284086	NEK8	OMIM:615415
HP:0040064	Abnormality of limbs	166929	SGMS2	OMIM:126550
HP:0040064	Abnormality of limbs	55151	TMEM38B	OMIM:615066
HP:0040064	Abnormality of limbs	8218	CLTCL1	ORPHA:453510
HP:0040064	Abnormality of limbs	3418	IDH2	ORPHA:296
HP:0040064	Abnormality of limbs	2752	GLUL	OMIM:610015
HP:0040064	Abnormality of limbs	1806	DPYD	ORPHA:1675
HP:0040064	Abnormality of limbs	3908	LAMA2	OMIM:618138
HP:0040064	Abnormality of limbs	84065	TMEM222	OMIM:619470
HP:0040064	Abnormality of limbs	79188	TMEM43	ORPHA:98853
HP:0040064	Abnormality of limbs	23224	SYNE2	ORPHA:98853
HP:0040064	Abnormality of limbs	8815	BANF1	OMIM:614008
HP:0040064	Abnormality of limbs	375	ARF1	ORPHA:98892
HP:0040064	Abnormality of limbs	160418	TMTC3	ORPHA:98892
HP:0040064	Abnormality of limbs	10564	ARFGEF2	ORPHA:98892
HP:0040064	Abnormality of limbs	1576	CYP3A4	OMIM:619073
HP:0040064	Abnormality of limbs	286053	NSMCE2	OMIM:617253
HP:0040064	Abnormality of limbs	65082	VPS33A	OMIM:617303
HP:0040064	Abnormality of limbs	51604	PIGT	OMIM:615398
HP:0040064	Abnormality of limbs	567	B2M	OMIM:241600
HP:0040064	Abnormality of limbs	9663	LPIN2	ORPHA:77297
HP:0040064	Abnormality of limbs	26503	SLC17A5	OMIM:269920
HP:0040064	Abnormality of limbs	846	CASR	OMIM:239200
HP:0040064	Abnormality of limbs	90993	CREB3L1	OMIM:616229
HP:0040064	Abnormality of limbs	4914	NTRK1	ORPHA:642
HP:0040064	Abnormality of limbs	1184	CLCN5	OMIM:300554
HP:0040064	Abnormality of limbs	1184	CLCN5	OMIM:300009
HP:0040064	Abnormality of limbs	142680	SLC34A3	OMIM:241530
HP:0040064	Abnormality of limbs	1436	CSF1R	OMIM:618476
HP:0040064	Abnormality of limbs	760	CA2	OMIM:259730
HP:0040064	Abnormality of limbs	7473	WNT3	OMIM:273395
HP:0040064	Abnormality of limbs	7473	WNT3	ORPHA:3301
HP:0040064	Abnormality of limbs	340419	RSPO2	ORPHA:3301
HP:0040064	Abnormality of limbs	55148	UBR7	OMIM:619189
HP:0040064	Abnormality of limbs	2554	GABRA1	ORPHA:33069
HP:0040064	Abnormality of limbs	57526	PCDH19	ORPHA:33069
HP:0040064	Abnormality of limbs	5879	RAC1	ORPHA:500159
HP:0040064	Abnormality of limbs	55768	NGLY1	ORPHA:404454
HP:0040064	Abnormality of limbs	2157	F8	ORPHA:169805
HP:0040064	Abnormality of limbs	7138	TNNT1	ORPHA:98902
HP:0040064	Abnormality of limbs	7138	TNNT1	OMIM:605355
HP:0040064	Abnormality of limbs	29925	GMPPB	ORPHA:370968
HP:0040064	Abnormality of limbs	29925	GMPPB	OMIM:615352
HP:0040064	Abnormality of limbs	29925	GMPPB	ORPHA:353327
HP:0040064	Abnormality of limbs	79147	FKRP	ORPHA:370968
HP:0040064	Abnormality of limbs	29954	POMT2	ORPHA:370968
HP:0040064	Abnormality of limbs	9215	LARGE1	ORPHA:370968
HP:0040064	Abnormality of limbs	10585	POMT1	ORPHA:370968
HP:0040064	Abnormality of limbs	10585	POMT1	OMIM:609308
HP:0040064	Abnormality of limbs	10585	POMT1	ORPHA:86812
HP:0040064	Abnormality of limbs	1410	CRYAB	OMIM:608810
HP:0040064	Abnormality of limbs	1410	CRYAB	ORPHA:399058
HP:0040064	Abnormality of limbs	1716	DGUOK	ORPHA:329314
HP:0040064	Abnormality of limbs	85365	ALG2	OMIM:616228
HP:0040064	Abnormality of limbs	85365	ALG2	ORPHA:353327
HP:0040064	Abnormality of limbs	5257	PHKB	ORPHA:79240
HP:0040064	Abnormality of limbs	1605	DAG1	OMIM:613818
HP:0040064	Abnormality of limbs	6442	SGCA	OMIM:608099
HP:0040064	Abnormality of limbs	5339	PLEC	ORPHA:254361
HP:0040064	Abnormality of limbs	112812	FDX2	OMIM:251900
HP:0040064	Abnormality of limbs	84197	POMK	OMIM:616094
HP:0040064	Abnormality of limbs	1073	CFL2	ORPHA:171436
HP:0040064	Abnormality of limbs	4507	MTAP	OMIM:112250
HP:0040064	Abnormality of limbs	2992	GYG1	OMIM:616199
HP:0040064	Abnormality of limbs	8291	DYSF	ORPHA:178400
HP:0040064	Abnormality of limbs	60482	SLC5A7	ORPHA:98914
HP:0040064	Abnormality of limbs	4649	MYO9A	ORPHA:98914
HP:0040064	Abnormality of limbs	1305	COL13A1	ORPHA:98914
HP:0040064	Abnormality of limbs	1103	CHAT	ORPHA:98914
HP:0040064	Abnormality of limbs	6576	SLC25A1	ORPHA:98914
HP:0040064	Abnormality of limbs	6843	VAMP1	ORPHA:98914
HP:0040064	Abnormality of limbs	375790	AGRN	ORPHA:98914
HP:0040064	Abnormality of limbs	127833	SYT2	ORPHA:98914
HP:0040064	Abnormality of limbs	6572	SLC18A3	ORPHA:98914
HP:0040064	Abnormality of limbs	6616	SNAP25	ORPHA:98914
HP:0040064	Abnormality of limbs	1763	DNA2	ORPHA:352470
HP:0040064	Abnormality of limbs	11149	BVES	OMIM:616812
HP:0040064	Abnormality of limbs	6443	SGCB	OMIM:604286
HP:0040064	Abnormality of limbs	11155	LDB3	ORPHA:98912
HP:0040064	Abnormality of limbs	4976	OPA1	ORPHA:1215
HP:0040064	Abnormality of limbs	2673	GFPT1	ORPHA:353327
HP:0040064	Abnormality of limbs	199857	ALG14	ORPHA:353327
HP:0040064	Abnormality of limbs	4041	LRP5	ORPHA:2788
HP:0040064	Abnormality of limbs	64131	XYLT1	ORPHA:1425
HP:0040064	Abnormality of limbs	124583	CANT1	ORPHA:1425
HP:0040064	Abnormality of limbs	55790	CSGALNACT1	ORPHA:1425
HP:0040064	Abnormality of limbs	59341	TRPV4	ORPHA:86820
HP:0040064	Abnormality of limbs	6473	SHOX	OMIM:127300
HP:0040064	Abnormality of limbs	50485	SMARCAL1	ORPHA:1830
HP:0040064	Abnormality of limbs	2617	GARS1	OMIM:600794
HP:0040064	Abnormality of limbs	2617	GARS1	ORPHA:139536
HP:0040064	Abnormality of limbs	2617	GARS1	OMIM:601472
HP:0040064	Abnormality of limbs	8985	PLOD3	OMIM:612394
HP:0040064	Abnormality of limbs	8884	SLC5A6	OMIM:619903
HP:0040064	Abnormality of limbs	3710	ITPR3	OMIM:620111
HP:0040064	Abnormality of limbs	3425	IDUA	OMIM:607015
HP:0040064	Abnormality of limbs	8729	GBF1	OMIM:606483
HP:0040064	Abnormality of limbs	4287	ATXN3	OMIM:109150
HP:0040064	Abnormality of limbs	4361	MRE11	ORPHA:251347
HP:0040064	Abnormality of limbs	4361	MRE11	OMIM:604391
HP:0040064	Abnormality of limbs	64837	KLC2	OMIM:609541
HP:0040064	Abnormality of limbs	25894	PLEKHG4	ORPHA:98765
HP:0040064	Abnormality of limbs	7504	XK	OMIM:300842
HP:0040064	Abnormality of limbs	5192	PEX10	OMIM:614871
HP:0040064	Abnormality of limbs	2632	GBE1	OMIM:263570
HP:0040064	Abnormality of limbs	1789	DNMT3B	OMIM:619478
HP:0040064	Abnormality of limbs	9420	CYP7B1	ORPHA:100986
HP:0040064	Abnormality of limbs	9420	CYP7B1	OMIM:270800
HP:0040064	Abnormality of limbs	4744	NEFH	OMIM:616924
HP:0040064	Abnormality of limbs	5155	PDGFB	ORPHA:2495
HP:0040064	Abnormality of limbs	7015	TERT	ORPHA:2495
HP:0040064	Abnormality of limbs	2581	GALC	ORPHA:206443
HP:0040064	Abnormality of limbs	2581	GALC	ORPHA:206448
HP:0040064	Abnormality of limbs	3074	HEXB	ORPHA:309169
HP:0040064	Abnormality of limbs	8566	PDXK	OMIM:618511
HP:0040064	Abnormality of limbs	8565	YARS1	OMIM:608323
HP:0040064	Abnormality of limbs	23636	NUP62	ORPHA:225154
HP:0040064	Abnormality of limbs	103	ADAR	ORPHA:225154
HP:0040064	Abnormality of limbs	23503	ZFYVE26	ORPHA:100996
HP:0040064	Abnormality of limbs	80199	FUZ	ORPHA:1136
HP:0040064	Abnormality of limbs	2583	B4GALNT1	OMIM:609195
HP:0040064	Abnormality of limbs	55791	LRIF1	OMIM:619477
HP:0040064	Abnormality of limbs	51099	ABHD5	ORPHA:98907
HP:0040064	Abnormality of limbs	2548	GAA	OMIM:232300
HP:0040064	Abnormality of limbs	2670	GFAP	ORPHA:363722
HP:0040064	Abnormality of limbs	8106	PABPN1	OMIM:164300
HP:0040064	Abnormality of limbs	270	AMPD1	ORPHA:45
HP:0040064	Abnormality of limbs	272	AMPD3	ORPHA:45
HP:0040064	Abnormality of limbs	966	CD59	OMIM:612300
HP:0040064	Abnormality of limbs	686	BTD	ORPHA:79241
HP:0040064	Abnormality of limbs	899	CCNF	OMIM:619141
HP:0040064	Abnormality of limbs	367	AR	OMIM:313200
HP:0040064	Abnormality of limbs	9325	TRIP4	ORPHA:486815
HP:0040064	Abnormality of limbs	6444	SGCD	OMIM:601287
HP:0040064	Abnormality of limbs	6444	SGCD	ORPHA:219
HP:0040064	Abnormality of limbs	55870	ASH1L	OMIM:617796
HP:0040064	Abnormality of limbs	311	ANXA11	OMIM:619733
HP:0040064	Abnormality of limbs	4620	MYH2	OMIM:605637
HP:0040064	Abnormality of limbs	80324	PUS1	OMIM:600462
HP:0040064	Abnormality of limbs	10801	SEPTIN9	ORPHA:2901
HP:0040064	Abnormality of limbs	6445	SGCG	ORPHA:353
HP:0040064	Abnormality of limbs	6445	SGCG	OMIM:253700
HP:0040064	Abnormality of limbs	55624	POMGNT1	ORPHA:370959
HP:0040064	Abnormality of limbs	859	CAV3	ORPHA:488650
HP:0040064	Abnormality of limbs	2483	FRG1	OMIM:158900
HP:0040064	Abnormality of limbs	146862	UNC45B	OMIM:619178
HP:0040064	Abnormality of limbs	291	SLC25A4	ORPHA:254892
HP:0040064	Abnormality of limbs	56652	TWNK	ORPHA:254892
HP:0040064	Abnormality of limbs	11232	POLG2	ORPHA:254892
HP:0040064	Abnormality of limbs	23347	SMCHD1	OMIM:158901
HP:0040064	Abnormality of limbs	5255	PHKA1	OMIM:300559
HP:0040064	Abnormality of limbs	57104	PNPLA2	ORPHA:98908
HP:0040064	Abnormality of limbs	4556	MT-TE	ORPHA:2596
HP:0040064	Abnormality of limbs	10049	DNAJB6	OMIM:603511
HP:0040064	Abnormality of limbs	54344	DPM3	ORPHA:263494
HP:0040064	Abnormality of limbs	23534	TNPO3	OMIM:608423
HP:0040064	Abnormality of limbs	2218	FKTN	ORPHA:370980
HP:0040064	Abnormality of limbs	1308	COL17A1	ORPHA:79406
HP:0040064	Abnormality of limbs	1308	COL17A1	ORPHA:251393
HP:0040064	Abnormality of limbs	4312	MMP1	ORPHA:79408
HP:0040064	Abnormality of limbs	4312	MMP1	OMIM:226600
HP:0040064	Abnormality of limbs	340533	NEXMIF	OMIM:300912
HP:0040064	Abnormality of limbs	1139	CHRNA7	ORPHA:199318
HP:0040064	Abnormality of limbs	1139	CHRNA7	OMIM:612001
HP:0040064	Abnormality of limbs	6659	SOX4	OMIM:618506
HP:0040064	Abnormality of limbs	1947	EFNB1	ORPHA:1520
HP:0040064	Abnormality of limbs	1947	EFNB1	OMIM:304110
HP:0040064	Abnormality of limbs	4010	LMX1B	ORPHA:2614
HP:0040064	Abnormality of limbs	4010	LMX1B	OMIM:161200
HP:0040064	Abnormality of limbs	10054	UBA2	OMIM:619959
HP:0040064	Abnormality of limbs	51126	NAA20	OMIM:619717
HP:0040064	Abnormality of limbs	9820	CUL7	ORPHA:2616
HP:0040064	Abnormality of limbs	9820	CUL7	OMIM:273750
HP:0040064	Abnormality of limbs	23363	OBSL1	ORPHA:2616
HP:0040064	Abnormality of limbs	83987	CCDC8	ORPHA:2616
HP:0040064	Abnormality of limbs	83987	CCDC8	OMIM:614205
HP:0040064	Abnormality of limbs	7021	TFAP2B	OMIM:169100
HP:0040064	Abnormality of limbs	7021	TFAP2B	ORPHA:46627
HP:0040064	Abnormality of limbs	7021	TFAP2B	OMIM:617035
HP:0040064	Abnormality of limbs	3481	IGF2	ORPHA:231140
HP:0040064	Abnormality of limbs	3481	IGF2	ORPHA:231144
HP:0040064	Abnormality of limbs	3481	IGF2	OMIM:616489
HP:0040064	Abnormality of limbs	3481	IGF2	OMIM:180860
HP:0040064	Abnormality of limbs	3481	IGF2	ORPHA:397590
HP:0040064	Abnormality of limbs	283120	H19	ORPHA:231140
HP:0040064	Abnormality of limbs	283120	H19	ORPHA:231144
HP:0040064	Abnormality of limbs	197131	UBR1	OMIM:243800
HP:0040064	Abnormality of limbs	4286	MITF	OMIM:617306
HP:0040064	Abnormality of limbs	51098	IFT52	ORPHA:1515
HP:0040064	Abnormality of limbs	55764	IFT122	ORPHA:1515
HP:0040064	Abnormality of limbs	57728	WDR19	ORPHA:1515
HP:0040064	Abnormality of limbs	55636	CHD7	ORPHA:138
HP:0040064	Abnormality of limbs	9723	SEMA3E	ORPHA:138
HP:0040064	Abnormality of limbs	90	ACVR1	OMIM:135100
HP:0040064	Abnormality of limbs	90	ACVR1	ORPHA:337
HP:0040064	Abnormality of limbs	3190	HNRNPK	OMIM:616580
HP:0040064	Abnormality of limbs	10606	PAICS	OMIM:619859
HP:0040064	Abnormality of limbs	1009	CDH11	OMIM:619736
HP:0040064	Abnormality of limbs	652	BMP4	OMIM:607932
HP:0040064	Abnormality of limbs	1301	COL11A1	OMIM:228520
HP:0040064	Abnormality of limbs	1301	COL11A1	OMIM:154780
HP:0040064	Abnormality of limbs	7291	TWIST1	OMIM:101400
HP:0040064	Abnormality of limbs	7291	TWIST1	ORPHA:794
HP:0040064	Abnormality of limbs	3981	LIG4	ORPHA:235
HP:0040064	Abnormality of limbs	3981	LIG4	ORPHA:99812
HP:0040064	Abnormality of limbs	3981	LIG4	OMIM:606593
HP:0040064	Abnormality of limbs	1182	CLCN3	OMIM:619512
HP:0040064	Abnormality of limbs	85301	COL27A1	OMIM:615155
HP:0040064	Abnormality of limbs	5048	PAFAH1B1	ORPHA:217385
HP:0040064	Abnormality of limbs	5048	PAFAH1B1	ORPHA:531
HP:0040064	Abnormality of limbs	7531	YWHAE	ORPHA:217385
HP:0040064	Abnormality of limbs	7531	YWHAE	ORPHA:531
HP:0040064	Abnormality of limbs	2121	EVC	OMIM:193530
HP:0040064	Abnormality of limbs	2121	EVC	ORPHA:952
HP:0040064	Abnormality of limbs	132884	EVC2	OMIM:193530
HP:0040064	Abnormality of limbs	132884	EVC2	ORPHA:952
HP:0040064	Abnormality of limbs	8364	H4C3	OMIM:619758
HP:0040064	Abnormality of limbs	5590	PRKCZ	ORPHA:1606
HP:0040064	Abnormality of limbs	8510	MMP23B	ORPHA:1606
HP:0040064	Abnormality of limbs	7798	LUZP1	ORPHA:1606
HP:0040064	Abnormality of limbs	6497	SKI	ORPHA:1606
HP:0040064	Abnormality of limbs	10630	PDPN	ORPHA:1606
HP:0040064	Abnormality of limbs	3339	HSPG2	ORPHA:1606
HP:0040064	Abnormality of limbs	10277	UBE4B	ORPHA:1606
HP:0040064	Abnormality of limbs	8514	KCNAB2	ORPHA:1606
HP:0040064	Abnormality of limbs	473	RERE	ORPHA:1606
HP:0040064	Abnormality of limbs	473	RERE	OMIM:616975
HP:0040064	Abnormality of limbs	63976	PRDM16	ORPHA:1606
HP:0040064	Abnormality of limbs	54897	CASZ1	ORPHA:1606
HP:0040064	Abnormality of limbs	641	BLM	OMIM:210900
HP:0040064	Abnormality of limbs	57492	ARID1B	ORPHA:251056
HP:0040064	Abnormality of limbs	57492	ARID1B	OMIM:135900
HP:0040064	Abnormality of limbs	63895	PIEZO2	ORPHA:376
HP:0040064	Abnormality of limbs	23314	SATB2	ORPHA:576283
HP:0040064	Abnormality of limbs	23314	SATB2	ORPHA:251028
HP:0040064	Abnormality of limbs	23314	SATB2	ORPHA:251019
HP:0040064	Abnormality of limbs	23162	MAPK8IP3	OMIM:618443
HP:0040064	Abnormality of limbs	79087	ALG12	ORPHA:79324
HP:0040064	Abnormality of limbs	26100	WIPI2	OMIM:618453
HP:0040064	Abnormality of limbs	10533	ATG7	OMIM:619422
HP:0040064	Abnormality of limbs	8295	TRRAP	OMIM:618454
HP:0040064	Abnormality of limbs	9742	IFT140	OMIM:266920
HP:0040064	Abnormality of limbs	7227	TRPS1	ORPHA:77258
HP:0040064	Abnormality of limbs	3479	IGF1	ORPHA:73272
HP:0040064	Abnormality of limbs	3479	IGF1	OMIM:608747
HP:0040064	Abnormality of limbs	6477	SIAH1	OMIM:619314
HP:0040064	Abnormality of limbs	8473	OGT	OMIM:300997
HP:0040064	Abnormality of limbs	1798	DPAGT1	OMIM:608093
HP:0040064	Abnormality of limbs	117581	TWIST2	OMIM:200110
HP:0040064	Abnormality of limbs	117581	TWIST2	OMIM:209885
HP:0040064	Abnormality of limbs	23030	KDM4B	OMIM:619320
HP:0040064	Abnormality of limbs	9126	SMC3	OMIM:610759
HP:0040064	Abnormality of limbs	9126	SMC3	ORPHA:199
HP:0040064	Abnormality of limbs	1725	DHPS	OMIM:618480
HP:0040064	Abnormality of limbs	55777	MBD5	OMIM:156200
HP:0040064	Abnormality of limbs	55777	MBD5	ORPHA:228402
HP:0040064	Abnormality of limbs	5980	REV3L	ORPHA:570
HP:0040064	Abnormality of limbs	23129	PLXND1	ORPHA:570
HP:0040064	Abnormality of limbs	4784	NFIX	OMIM:602535
HP:0040064	Abnormality of limbs	4998	ORC1	OMIM:224690
HP:0040064	Abnormality of limbs	4998	ORC1	ORPHA:2554
HP:0040064	Abnormality of limbs	4052	LTBP1	OMIM:619451
HP:0040064	Abnormality of limbs	8260	NAA10	OMIM:300855
HP:0040064	Abnormality of limbs	8260	NAA10	ORPHA:568
HP:0040064	Abnormality of limbs	9496	TBX4	ORPHA:261279
HP:0040064	Abnormality of limbs	8091	HMGA2	ORPHA:94063
HP:0040064	Abnormality of limbs	8091	HMGA2	ORPHA:397590
HP:0040064	Abnormality of limbs	23592	LEMD3	ORPHA:94063
HP:0040064	Abnormality of limbs	5283	PIGH	OMIM:618010
HP:0040064	Abnormality of limbs	50801	KCNK4	OMIM:618381
HP:0040064	Abnormality of limbs	57003	CCDC47	OMIM:618268
HP:0040064	Abnormality of limbs	5977	DPF2	OMIM:618027
HP:0040064	Abnormality of limbs	94005	PIGS	OMIM:618143
HP:0040064	Abnormality of limbs	285590	SH3PXD2B	ORPHA:137834
HP:0040064	Abnormality of limbs	526	ATP6V1B2	ORPHA:79500
HP:0040064	Abnormality of limbs	57465	TBC1D24	ORPHA:79500
HP:0040064	Abnormality of limbs	57465	TBC1D24	OMIM:220500
HP:0040064	Abnormality of limbs	5728	PTEN	ORPHA:744
HP:0040064	Abnormality of limbs	207	AKT1	ORPHA:744
HP:0040064	Abnormality of limbs	2887	GRB10	ORPHA:96182
HP:0040064	Abnormality of limbs	1457	CSNK2A1	OMIM:617062
HP:0040064	Abnormality of limbs	51715	RAB23	OMIM:201000
HP:0040064	Abnormality of limbs	28952	CCDC22	OMIM:300963
HP:0040064	Abnormality of limbs	90416	CCDC32	OMIM:619123
HP:0040064	Abnormality of limbs	8450	CUL4B	ORPHA:85293
HP:0040064	Abnormality of limbs	55717	WDR11	OMIM:620237
HP:0040064	Abnormality of limbs	118924	FRA10AC1	OMIM:620113
HP:0040064	Abnormality of limbs	22995	CEP152	OMIM:613823
HP:0040064	Abnormality of limbs	22995	CEP152	ORPHA:808
HP:0040064	Abnormality of limbs	3090	HIC1	ORPHA:531
HP:0040064	Abnormality of limbs	10436	EMG1	OMIM:211180
HP:0040064	Abnormality of limbs	10436	EMG1	ORPHA:1270
HP:0040064	Abnormality of limbs	10084	PQBP1	OMIM:309500
HP:0040064	Abnormality of limbs	89970	RSPRY1	ORPHA:457395
HP:0040064	Abnormality of limbs	22800	RRAS2	ORPHA:648
HP:0040064	Abnormality of limbs	867	CBL	ORPHA:648
HP:0040064	Abnormality of limbs	8216	LZTR1	ORPHA:648
HP:0040064	Abnormality of limbs	6016	RIT1	ORPHA:648
HP:0040064	Abnormality of limbs	6237	RRAS	ORPHA:648
HP:0040064	Abnormality of limbs	5894	RAF1	ORPHA:648
HP:0040064	Abnormality of limbs	22808	MRAS	ORPHA:648
HP:0040064	Abnormality of limbs	3845	KRAS	ORPHA:648
HP:0040064	Abnormality of limbs	200734	SPRED2	ORPHA:648
HP:0040064	Abnormality of limbs	4893	NRAS	ORPHA:648
HP:0040064	Abnormality of limbs	6654	SOS1	ORPHA:648
HP:0040064	Abnormality of limbs	6655	SOS2	ORPHA:648
HP:0040064	Abnormality of limbs	5781	PTPN11	ORPHA:648
HP:0040064	Abnormality of limbs	5922	RASA2	ORPHA:648
HP:0040064	Abnormality of limbs	23522	KAT6B	ORPHA:3047
HP:0040064	Abnormality of limbs	79023	NUP37	OMIM:618179
HP:0040064	Abnormality of limbs	375056	MIA3	OMIM:619269
HP:0040064	Abnormality of limbs	27161	AGO2	OMIM:619149
HP:0040064	Abnormality of limbs	5567	PRKACB	OMIM:619143
HP:0040064	Abnormality of limbs	221927	BRAT1	OMIM:618056
HP:0040064	Abnormality of limbs	8823	FGF16	OMIM:309630
HP:0040064	Abnormality of limbs	5518	PPP2R1A	ORPHA:457284
HP:0040064	Abnormality of limbs	161742	SPRED1	ORPHA:137605
HP:0040064	Abnormality of limbs	7337	UBE3A	ORPHA:238446
HP:0040064	Abnormality of limbs	1832	DSP	ORPHA:158687
HP:0040064	Abnormality of limbs	1832	DSP	OMIM:609638
HP:0040064	Abnormality of limbs	3728	JUP	ORPHA:158687
HP:0040064	Abnormality of limbs	23241	PACS2	OMIM:618067
HP:0040064	Abnormality of limbs	7518	XRCC4	ORPHA:99812
HP:0040064	Abnormality of limbs	3209	HOXA13	OMIM:140000
HP:0040064	Abnormality of limbs	3209	HOXA13	ORPHA:2438
HP:0040064	Abnormality of limbs	613	BCR	ORPHA:261330
HP:0040064	Abnormality of limbs	1399	CRKL	ORPHA:261330
HP:0040064	Abnormality of limbs	89910	UBE3B	OMIM:244450
HP:0040064	Abnormality of limbs	2314	FLII	ORPHA:819
HP:0040064	Abnormality of limbs	23096	IQSEC2	ORPHA:819
HP:0040064	Abnormality of limbs	10522	DEAF1	ORPHA:819
HP:0040064	Abnormality of limbs	150468	CKAP2L	ORPHA:3255
HP:0040064	Abnormality of limbs	9184	BUB3	ORPHA:1052
HP:0040064	Abnormality of limbs	699	BUB1	ORPHA:1052
HP:0040064	Abnormality of limbs	699	BUB1	OMIM:620183
HP:0040064	Abnormality of limbs	9702	CEP57	ORPHA:1052
HP:0040064	Abnormality of limbs	9702	CEP57	OMIM:614114
HP:0040064	Abnormality of limbs	9319	TRIP13	ORPHA:1052
HP:0040064	Abnormality of limbs	701	BUB1B	ORPHA:1052
HP:0040064	Abnormality of limbs	54476	RNF216	ORPHA:1173
HP:0040064	Abnormality of limbs	10908	PNPLA6	ORPHA:1173
HP:0040064	Abnormality of limbs	23036	ZNF292	OMIM:619188
HP:0040064	Abnormality of limbs	51199	NIN	OMIM:614851
HP:0040064	Abnormality of limbs	51199	NIN	ORPHA:319675
HP:0040064	Abnormality of limbs	1954	MEGF8	OMIM:614976
HP:0040064	Abnormality of limbs	1857	DVL3	ORPHA:3107
HP:0040064	Abnormality of limbs	7474	WNT5A	ORPHA:3107
HP:0040064	Abnormality of limbs	1855	DVL1	ORPHA:3107
HP:0040064	Abnormality of limbs	2535	FZD2	ORPHA:3107
HP:0040064	Abnormality of limbs	2535	FZD2	OMIM:164745
HP:0040064	Abnormality of limbs	26053	AUTS2	OMIM:615834
HP:0040064	Abnormality of limbs	2122	MECOM	ORPHA:71289
HP:0040064	Abnormality of limbs	3207	HOXA11	ORPHA:71289
HP:0040064	Abnormality of limbs	3207	HOXA11	OMIM:605432
HP:0040064	Abnormality of limbs	81031	SLC2A10	ORPHA:3342
HP:0040064	Abnormality of limbs	10236	HNRNPR	OMIM:620073
HP:0040064	Abnormality of limbs	6628	SNRPB	ORPHA:1393
HP:0040064	Abnormality of limbs	6628	SNRPB	OMIM:117650
HP:0040064	Abnormality of limbs	1028	CDKN1C	ORPHA:397590
HP:0040064	Abnormality of limbs	5324	PLAG1	ORPHA:397590
HP:0040064	Abnormality of limbs	9555	MACROH2A1	ORPHA:1275
HP:0040064	Abnormality of limbs	5307	PITX1	ORPHA:1275
HP:0040064	Abnormality of limbs	5422	POLA1	ORPHA:163976
HP:0040064	Abnormality of limbs	5422	POLA1	OMIM:301030
HP:0040064	Abnormality of limbs	55906	ZC4H2	ORPHA:3454
HP:0040064	Abnormality of limbs	10430	TMEM147	OMIM:620075
HP:0040064	Abnormality of limbs	23414	ZFPM2	OMIM:187500
HP:0040064	Abnormality of limbs	23414	ZFPM2	ORPHA:3303
HP:0040064	Abnormality of limbs	1482	NKX2-5	OMIM:187500
HP:0040064	Abnormality of limbs	1482	NKX2-5	ORPHA:3303
HP:0040064	Abnormality of limbs	182	JAG1	OMIM:187500
HP:0040064	Abnormality of limbs	182	JAG1	ORPHA:3303
HP:0040064	Abnormality of limbs	6899	TBX1	OMIM:187500
HP:0040064	Abnormality of limbs	6899	TBX1	ORPHA:3303
HP:0040064	Abnormality of limbs	2627	GATA6	OMIM:187500
HP:0040064	Abnormality of limbs	2627	GATA6	ORPHA:3303
HP:0040064	Abnormality of limbs	545	ATR	ORPHA:808
HP:0040064	Abnormality of limbs	545	ATR	OMIM:210600
HP:0040064	Abnormality of limbs	1062	CENPE	ORPHA:808
HP:0040064	Abnormality of limbs	5116	PCNT	ORPHA:808
HP:0040064	Abnormality of limbs	5116	PCNT	OMIM:210720
HP:0040064	Abnormality of limbs	5116	PCNT	ORPHA:2637
HP:0040064	Abnormality of limbs	79902	NUP85	ORPHA:808
HP:0040064	Abnormality of limbs	84126	ATRIP	ORPHA:808
HP:0040064	Abnormality of limbs	55835	CENPJ	ORPHA:808
HP:0040064	Abnormality of limbs	10293	TRAIP	ORPHA:808
HP:0040064	Abnormality of limbs	10733	PLK4	ORPHA:808
HP:0040064	Abnormality of limbs	29123	ANKRD11	OMIM:148050
HP:0040064	Abnormality of limbs	9775	EIF4A3	OMIM:268305
HP:0040064	Abnormality of limbs	2702	GJA5	OMIM:612474
HP:0040064	Abnormality of limbs	2702	GJA5	ORPHA:3303
HP:0040064	Abnormality of limbs	2703	GJA8	OMIM:612474
HP:0040064	Abnormality of limbs	22856	CHSY1	ORPHA:363417
HP:0040064	Abnormality of limbs	51621	KLF13	OMIM:612001
HP:0040064	Abnormality of limbs	5648	MASP1	OMIM:257920
HP:0040064	Abnormality of limbs	11133	KPTN	OMIM:615637
HP:0040064	Abnormality of limbs	11133	KPTN	ORPHA:397612
HP:0040064	Abnormality of limbs	137814	NKX2-6	ORPHA:3303
HP:0040064	Abnormality of limbs	3791	KDR	ORPHA:3303
HP:0040064	Abnormality of limbs	2657	GDF1	ORPHA:3303
HP:0040064	Abnormality of limbs	140628	GATA5	ORPHA:3303
HP:0040064	Abnormality of limbs	2324	FLT4	ORPHA:3303
HP:0040064	Abnormality of limbs	10370	CITED2	ORPHA:3303
HP:0040064	Abnormality of limbs	2334	AFF2	ORPHA:100973
HP:0040064	Abnormality of limbs	10847	SRCAP	OMIM:136140
HP:0040064	Abnormality of limbs	84679	SLC9A7	OMIM:301024
HP:0040064	Abnormality of limbs	10735	STAG2	OMIM:301022
HP:0040064	Abnormality of limbs	5925	RB1	ORPHA:1587
HP:0040064	Abnormality of limbs	7874	USP7	OMIM:616863
HP:0040064	Abnormality of limbs	81620	CDT1	ORPHA:2554
HP:0040064	Abnormality of limbs	5000	ORC4	ORPHA:2554
HP:0040064	Abnormality of limbs	23594	ORC6	ORPHA:2554
HP:0040064	Abnormality of limbs	990	CDC6	ORPHA:2554
HP:0040064	Abnormality of limbs	51053	GMNN	ORPHA:2554
HP:0040064	Abnormality of limbs	25	ABL1	OMIM:617602
HP:0040064	Abnormality of limbs	29980	DONSON	OMIM:617604
HP:0040064	Abnormality of limbs	6638	SNRPN	ORPHA:177907
HP:0040064	Abnormality of limbs	23476	BRD4	ORPHA:199
HP:0040064	Abnormality of limbs	22931	RAB18	OMIM:614222
HP:0040064	Abnormality of limbs	490	ATP2B1	OMIM:619910
HP:0040064	Abnormality of limbs	54870	QRICH1	OMIM:617982
HP:0040064	Abnormality of limbs	139285	AMER1	OMIM:300373
HP:0040064	Abnormality of limbs	2186	BPTF	OMIM:617755
HP:0040064	Abnormality of limbs	10225	CD96	ORPHA:1308
HP:0040064	Abnormality of limbs	4204	MECP2	OMIM:300260
HP:0040064	Abnormality of limbs	55553	SOX6	OMIM:618971
HP:0040064	Abnormality of limbs	84148	KAT8	OMIM:618974
HP:0040064	Abnormality of limbs	58499	ZNF462	OMIM:618619
HP:0040064	Abnormality of limbs	6598	SMARCB1	OMIM:614608
HP:0040064	Abnormality of limbs	84068	SLC10A7	OMIM:618363
HP:0040064	Abnormality of limbs	54187	NANS	OMIM:610442
HP:0040064	Abnormality of limbs	9451	EIF2AK3	OMIM:226980
HP:0040064	Abnormality of limbs	10568	SLC34A2	ORPHA:60025
HP:0040064	Abnormality of limbs	3417	IDH1	ORPHA:99646
HP:0040064	Abnormality of limbs	8838	CCN6	ORPHA:1159
HP:0040064	Abnormality of limbs	4148	MATN3	ORPHA:93311
HP:0040064	Abnormality of limbs	3480	IGF1R	ORPHA:73273
HP:0040064	Abnormality of limbs	124997	WDR81	OMIM:610185
HP:0040064	Abnormality of limbs	79639	TMEM53	OMIM:619727
HP:0040064	Abnormality of limbs	80311	KLHL15	OMIM:300982
HP:0040064	Abnormality of limbs	10013	HDAC6	ORPHA:163966
HP:0040064	Abnormality of limbs	9719	ADAMTSL2	OMIM:231050
HP:0040064	Abnormality of limbs	1298	COL9A2	OMIM:600204
HP:0040064	Abnormality of limbs	28957	MRPS28	OMIM:618958
HP:0040064	Abnormality of limbs	23261	CAMTA1	OMIM:614756
HP:0040064	Abnormality of limbs	25839	COG4	ORPHA:85172
HP:0040064	Abnormality of limbs	147372	CCBE1	OMIM:235510
HP:0040064	Abnormality of limbs	4692	NDN	ORPHA:177910
HP:0040064	Abnormality of limbs	579	NKX3-2	OMIM:613330
HP:0040064	Abnormality of limbs	1302	COL11A2	OMIM:215150
HP:0040064	Abnormality of limbs	2074	ERCC6	OMIM:214150
HP:0040064	Abnormality of limbs	23556	PIGN	ORPHA:280633
HP:0040064	Abnormality of limbs	2131	EXT1	ORPHA:321
HP:0040064	Abnormality of limbs	2132	EXT2	ORPHA:321
HP:0040064	Abnormality of limbs	5119	CHMP1A	OMIM:614961
HP:0040064	Abnormality of limbs	3187	HNRNPH1	OMIM:620083
HP:0040064	Abnormality of limbs	4125	MAN2B1	ORPHA:309282
HP:0040064	Abnormality of limbs	4841	NONO	ORPHA:466791
HP:0040064	Abnormality of limbs	1788	DNMT3A	OMIM:615879
HP:0040064	Abnormality of limbs	25782	RAB3GAP2	OMIM:212720
HP:0040064	Abnormality of limbs	3977	LIFR	OMIM:601559
HP:0040064	Abnormality of limbs	6335	SCN9A	ORPHA:36387
HP:0040064	Abnormality of limbs	112755	STX1B	ORPHA:36387
HP:0040064	Abnormality of limbs	2563	GABRD	ORPHA:36387
HP:0040064	Abnormality of limbs	6326	SCN2A	ORPHA:36387
HP:0040064	Abnormality of limbs	6323	SCN1A	ORPHA:36387
HP:0040064	Abnormality of limbs	6324	SCN1B	ORPHA:36387
HP:0040064	Abnormality of limbs	348980	HCN1	ORPHA:36387
HP:0040064	Abnormality of limbs	84059	ADGRV1	ORPHA:36387
HP:0040064	Abnormality of limbs	2566	GABRG2	ORPHA:36387
HP:0040064	Abnormality of limbs	833	CARS1	OMIM:618891
HP:0040064	Abnormality of limbs	3094	HINT1	ORPHA:324442
HP:0040064	Abnormality of limbs	2879	GPX4	OMIM:250220
HP:0040064	Abnormality of limbs	5191	PEX7	OMIM:266500
HP:0040064	Abnormality of limbs	5264	PHYH	OMIM:266500
HP:0040064	Abnormality of limbs	54585	LZTFL1	OMIM:615994
HP:0040064	Abnormality of limbs	55628	ZNF407	OMIM:619557
HP:0040064	Abnormality of limbs	79633	FAT4	OMIM:615546
HP:0040064	Abnormality of limbs	8642	DCHS1	OMIM:601390
HP:0040064	Abnormality of limbs	54496	PRMT7	ORPHA:464288
HP:0040064	Abnormality of limbs	3081	HGD	ORPHA:56
HP:0040064	Abnormality of limbs	3081	HGD	OMIM:203500
HP:0040064	Abnormality of limbs	3848	KRT1	ORPHA:530838
HP:0040064	Abnormality of limbs	10682	EBP	ORPHA:401973
HP:0040064	Abnormality of limbs	10682	EBP	OMIM:300960
HP:0040064	Abnormality of limbs	650	BMP2	OMIM:112600
HP:0040064	Abnormality of limbs	11253	MAN1B1	ORPHA:397941
HP:0040064	Abnormality of limbs	23394	ADNP	ORPHA:404448
HP:0040064	Abnormality of limbs	5898	RALA	OMIM:619311
HP:0040064	Abnormality of limbs	8294	H4C9	OMIM:619951
HP:0040064	Abnormality of limbs	4683	NBN	OMIM:251260
HP:0040064	Abnormality of limbs	5885	RAD21	OMIM:614701
HP:0040064	Abnormality of limbs	81857	MED25	OMIM:616449
HP:0040064	Abnormality of limbs	81857	MED25	ORPHA:464738
HP:0040064	Abnormality of limbs	10586	MAB21L2	OMIM:615877
HP:0040064	Abnormality of limbs	8854	ALDH1A2	OMIM:620025
HP:0040064	Abnormality of limbs	10274	STAG1	ORPHA:502434
HP:0040064	Abnormality of limbs	55209	SETD5	ORPHA:404440
HP:0040064	Abnormality of limbs	23291	FBXW11	OMIM:618914
HP:0040064	Abnormality of limbs	10982	MAPRE2	OMIM:616734
HP:0040064	Abnormality of limbs	4297	KMT2A	OMIM:605130
HP:0040064	Abnormality of limbs	6660	SOX5	ORPHA:313892
HP:0040064	Abnormality of limbs	51057	WDPCP	OMIM:217085
HP:0040064	Abnormality of limbs	9241	NOG	OMIM:186500
HP:0040064	Abnormality of limbs	7319	UBE2A	OMIM:300860
HP:0040064	Abnormality of limbs	10087	CERT1	OMIM:616351
HP:0040064	Abnormality of limbs	164	AP1G1	OMIM:619467
HP:0040064	Abnormality of limbs	1656	DDX6	OMIM:618653
HP:0040064	Abnormality of limbs	4212	MEIS2	OMIM:600987
HP:0040064	Abnormality of limbs	23327	NEDD4L	OMIM:617201
HP:0040064	Abnormality of limbs	5147	PDE6D	OMIM:615665
HP:0040064	Abnormality of limbs	57178	ZMIZ1	OMIM:618659
HP:0040064	Abnormality of limbs	93627	TBCK	ORPHA:488632
HP:0040064	Abnormality of limbs	6304	SATB1	OMIM:619229
HP:0040064	Abnormality of limbs	80185	TTI2	ORPHA:391307
HP:0040064	Abnormality of limbs	26160	IFT172	OMIM:619471
HP:0040064	Abnormality of limbs	10664	CTCF	ORPHA:363611
HP:0040064	Abnormality of limbs	3590	IL11RA	OMIM:614188
HP:0040064	Abnormality of limbs	55165	CEP55	OMIM:236500
HP:0040064	Abnormality of limbs	84992	PIGY	OMIM:616809
HP:0040064	Abnormality of limbs	10907	TXNL4A	OMIM:608572
HP:0040064	Abnormality of limbs	284252	KCTD1	OMIM:181270
HP:0040064	Abnormality of limbs	6558	SLC12A2	OMIM:619080
HP:0040064	Abnormality of limbs	7204	TRIO	OMIM:617061
HP:0040064	Abnormality of limbs	7204	TRIO	ORPHA:476126
HP:0040064	Abnormality of limbs	2222	FDFT1	OMIM:618156
HP:0040064	Abnormality of limbs	4089	SMAD4	OMIM:139210
HP:0040064	Abnormality of limbs	6857	SYT1	ORPHA:522077
HP:0040064	Abnormality of limbs	6472	SHMT2	OMIM:619121
HP:0040064	Abnormality of limbs	112752	IFT43	OMIM:617866
HP:0040064	Abnormality of limbs	112752	IFT43	OMIM:614099
HP:0040064	Abnormality of limbs	57570	TRMT5	OMIM:616539
HP:0040064	Abnormality of limbs	23529	CLCF1	OMIM:610313
HP:0040064	Abnormality of limbs	745	MYRF	OMIM:618280
HP:0040064	Abnormality of limbs	23387	SIK3	OMIM:618162
HP:0040064	Abnormality of limbs	10020	GNE	OMIM:269921
HP:0040064	Abnormality of limbs	10020	GNE	ORPHA:3166
HP:0040064	Abnormality of limbs	1663	DDX11	OMIM:613398
HP:0040064	Abnormality of limbs	25836	NIPBL	OMIM:122470
HP:0040064	Abnormality of limbs	5718	PSMD12	OMIM:617516
HP:0040064	Abnormality of limbs	9757	KMT2B	OMIM:619934
HP:0040064	Abnormality of limbs	4848	CNOT2	OMIM:618608
HP:0040064	Abnormality of limbs	55023	PHIP	ORPHA:589905
HP:0040064	Abnormality of limbs	341208	HEPHL1	OMIM:261990
HP:0040064	Abnormality of limbs	55212	BBS7	OMIM:615984
HP:0040064	Abnormality of limbs	4208	MEF2C	OMIM:613443
HP:0040064	Abnormality of limbs	3720	JARID2	OMIM:620098
HP:0040064	Abnormality of limbs	3762	KCNJ5	ORPHA:37553
HP:0040064	Abnormality of limbs	3759	KCNJ2	ORPHA:37553
HP:0040064	Abnormality of limbs	9990	SLC12A6	OMIM:218000
HP:0040064	Abnormality of limbs	4613	MYCN	ORPHA:391641
HP:0040064	Abnormality of limbs	4613	MYCN	OMIM:164280
HP:0040064	Abnormality of limbs	6913	TBX15	OMIM:260660
HP:0040064	Abnormality of limbs	54888	NSUN2	OMIM:611091
HP:0040064	Abnormality of limbs	50814	NSDHL	OMIM:308050
HP:0040064	Abnormality of limbs	92002	CCNQ	OMIM:300707
HP:0040064	Abnormality of limbs	81607	NECTIN4	OMIM:613573
HP:0040064	Abnormality of limbs	9894	TELO2	ORPHA:488642
HP:0040064	Abnormality of limbs	5932	RBBP8	OMIM:251255
HP:0040064	Abnormality of limbs	6872	TAF1	OMIM:300966
HP:0040064	Abnormality of limbs	4625	MYH7	ORPHA:59135
HP:0040064	Abnormality of limbs	56997	COQ8A	ORPHA:139485
HP:0040064	Abnormality of limbs	1594	CYP27B1	ORPHA:289157
HP:0040064	Abnormality of limbs	120227	CYP2R1	ORPHA:289157
HP:0040064	Abnormality of limbs	55503	TRPV6	OMIM:618188
HP:0040064	Abnormality of limbs	51305	KCNK9	ORPHA:166108
HP:0040064	Abnormality of limbs	9499	MYOT	ORPHA:266
HP:0040064	Abnormality of limbs	4982	TNFRSF11B	OMIM:239000
HP:0040064	Abnormality of limbs	10342	TFG	ORPHA:431329
HP:0040064	Abnormality of limbs	5582	PRKCG	ORPHA:98763
HP:0040064	Abnormality of limbs	8139	GAN	ORPHA:643
HP:0040064	Abnormality of limbs	23204	ARL6IP1	ORPHA:401780
HP:0040064	Abnormality of limbs	5456	POU3F4	ORPHA:1435
HP:0040064	Abnormality of limbs	162514	TRPV3	OMIM:616400
HP:0040064	Abnormality of limbs	84265	POLR3GL	OMIM:619234
HP:0040064	Abnormality of limbs	1327	COX4I1	OMIM:619060
HP:0040064	Abnormality of limbs	1147	CHUK	OMIM:619339
HP:0040064	Abnormality of limbs	10352	WARS2	ORPHA:572798
HP:0040064	Abnormality of limbs	55210	ATAD3A	ORPHA:496790
HP:0040064	Abnormality of limbs	1737	DLAT	ORPHA:79244
HP:0040064	Abnormality of limbs	55898	UNC45A	OMIM:619377
HP:0040064	Abnormality of limbs	26277	TINF2	OMIM:613990
HP:0040064	Abnormality of limbs	9652	SKIC3	OMIM:222470
HP:0040064	Abnormality of limbs	11277	TREX1	ORPHA:247691
HP:0040064	Abnormality of limbs	8540	AGPS	OMIM:600121
HP:0040064	Abnormality of limbs	4323	MMP14	ORPHA:371428
HP:0040064	Abnormality of limbs	8517	IKBKG	ORPHA:464
HP:0040064	Abnormality of limbs	9130	FAM50A	OMIM:300261
HP:0040064	Abnormality of limbs	9365	KL	OMIM:617994
HP:0040064	Abnormality of limbs	128674	PROKR2	OMIM:244200
HP:0040064	Abnormality of limbs	22861	NLRP1	OMIM:615225
HP:0040064	Abnormality of limbs	2332	FMR1	OMIM:300624
HP:0040064	Abnormality of limbs	341640	FREM2	ORPHA:2052
HP:0040064	Abnormality of limbs	80144	FRAS1	ORPHA:2052
HP:0040064	Abnormality of limbs	23426	GRIP1	ORPHA:2052
HP:0040064	Abnormality of limbs	9790	BMS1	ORPHA:1114
HP:0040064	Abnormality of limbs	3691	ITGB4	ORPHA:1114
HP:0040064	Abnormality of limbs	5818	NECTIN1	ORPHA:3253
HP:0040064	Abnormality of limbs	1500	CTNND1	ORPHA:1997
HP:0040064	Abnormality of limbs	134701	RIPPLY2	ORPHA:2311
HP:0040064	Abnormality of limbs	10683	DLL3	ORPHA:2311
HP:0040064	Abnormality of limbs	84667	HES7	ORPHA:2311
HP:0040064	Abnormality of limbs	145873	MESP2	ORPHA:2311
HP:0040064	Abnormality of limbs	1501	CTNND2	ORPHA:281
HP:0040064	Abnormality of limbs	9037	SEMA5A	ORPHA:281
HP:0040064	Abnormality of limbs	9508	ADAMTS3	ORPHA:2136
HP:0040064	Abnormality of limbs	22948	CCT5	OMIM:256840
HP:0040064	Abnormality of limbs	22948	CCT5	ORPHA:139578
HP:0040064	Abnormality of limbs	4803	NGF	OMIM:608654
HP:0040064	Abnormality of limbs	3376	IARS1	ORPHA:541423
HP:0040064	Abnormality of limbs	6583	SLC22A4	OMIM:180300
HP:0040064	Abnormality of limbs	4261	CIITA	OMIM:180300
HP:0040064	Abnormality of limbs	51744	CD244	OMIM:180300
HP:0040064	Abnormality of limbs	4795	NFKBIL1	OMIM:180300
HP:0040064	Abnormality of limbs	3586	IL10	OMIM:180300
HP:0040064	Abnormality of limbs	283209	PGM2L1	OMIM:620191
HP:0040064	Abnormality of limbs	7466	WFS1	OMIM:222300
HP:0040064	Abnormality of limbs	54829	ASPN	OMIM:607850
HP:0040064	Abnormality of limbs	2720	GLB1	ORPHA:79255
HP:0040064	Abnormality of limbs	5352	PLOD2	OMIM:609220
HP:0040064	Abnormality of limbs	3714	JAG2	OMIM:619566
HP:0040064	Abnormality of limbs	51506	UFC1	OMIM:618076
HP:0040064	Abnormality of limbs	23321	TRIM2	OMIM:615490
HP:0040064	Abnormality of limbs	92255	LMBRD2	OMIM:619694
HP:0040064	Abnormality of limbs	2010	EMD	OMIM:310300
HP:0040064	Abnormality of limbs	4632	MYL1	OMIM:618414
HP:0040064	Abnormality of limbs	79644	SRD5A3	OMIM:612713
HP:0040064	Abnormality of limbs	9531	BAG3	OMIM:612954
HP:0040064	Abnormality of limbs	9653	HS2ST1	OMIM:619194
HP:0040064	Abnormality of limbs	9051	PSTPIP1	OMIM:604416
HP:0040064	Abnormality of limbs	26137	ZBTB20	OMIM:259050
HP:0040064	Abnormality of limbs	339855	KY	ORPHA:496689
HP:0040064	Abnormality of limbs	64116	SLC39A8	ORPHA:468699
HP:0040064	Abnormality of limbs	8449	DHX16	OMIM:618733
HP:0040064	Abnormality of limbs	56172	ANKH	OMIM:123000
HP:0040064	Abnormality of limbs	249	ALPL	OMIM:241500
HP:0040064	Abnormality of limbs	5479	PPIB	OMIM:259440
HP:0040064	Abnormality of limbs	3911	LAMA5	OMIM:620076
HP:0040064	Abnormality of limbs	51025	PAM16	OMIM:613320
HP:0040064	Abnormality of limbs	2318	FLNC	ORPHA:63273
HP:0040064	Abnormality of limbs	4233	MET	OMIM:620019
HP:0040064	Abnormality of limbs	4091	SMAD6	OMIM:179300
HP:0040064	Abnormality of limbs	1297	COL9A1	OMIM:614135
HP:0040064	Abnormality of limbs	4322	MMP13	OMIM:250400
HP:0040064	Abnormality of limbs	4322	MMP13	ORPHA:2501
HP:0040064	Abnormality of limbs	1300	COL10A1	OMIM:156500
HP:0040064	Abnormality of limbs	55325	UFSP2	ORPHA:2114
HP:0040064	Abnormality of limbs	55325	UFSP2	OMIM:142669
HP:0040064	Abnormality of limbs	83452	RAB33B	OMIM:615222
HP:0040064	Abnormality of limbs	9382	COG1	OMIM:611209
HP:0040064	Abnormality of limbs	5251	PHEX	OMIM:307800
HP:0040064	Abnormality of limbs	5251	PHEX	ORPHA:89936
HP:0040064	Abnormality of limbs	64682	ANAPC1	ORPHA:221008
HP:0040064	Abnormality of limbs	2184	FAH	ORPHA:882
HP:0040064	Abnormality of limbs	1758	DMP1	ORPHA:289176
HP:0040064	Abnormality of limbs	5167	ENPP1	ORPHA:289176
HP:0040064	Abnormality of limbs	11160	ERLIN2	ORPHA:280384
HP:0040064	Abnormality of limbs	11160	ERLIN2	ORPHA:209951
HP:0040064	Abnormality of limbs	25914	RTTN	ORPHA:468631
HP:0040064	Abnormality of limbs	6840	SVIL	OMIM:619040
HP:0040064	Abnormality of limbs	825	CAPN3	ORPHA:267
HP:0040064	Abnormality of limbs	22978	NT5C2	ORPHA:320396
HP:0040064	Abnormality of limbs	6261	RYR1	OMIM:117000
HP:0040064	Abnormality of limbs	83636	C19orf12	OMIM:615043
HP:0040064	Abnormality of limbs	84876	ORAI1	OMIM:615883
HP:0040064	Abnormality of limbs	163175	LGI4	OMIM:617468
HP:0040064	Abnormality of limbs	6509	SLC1A4	OMIM:616657
HP:0040064	Abnormality of limbs	60681	FKBP10	OMIM:259450
HP:0040064	Abnormality of limbs	4773	NFATC2	OMIM:620232
HP:0040064	Abnormality of limbs	87178	PNPT1	ORPHA:319514
HP:0040064	Abnormality of limbs	26092	TOR1AIP1	OMIM:617072
HP:0040064	Abnormality of limbs	8813	DPM1	OMIM:608799
HP:0040064	Abnormality of limbs	210	ALAD	ORPHA:100924
HP:0040064	Abnormality of limbs	513	ATP5F1D	OMIM:618120
HP:0040064	Abnormality of limbs	7317	UBA1	ORPHA:1145
HP:0040064	Abnormality of limbs	84570	COL25A1	ORPHA:1143
HP:0040064	Abnormality of limbs	57222	ERGIC1	ORPHA:1143
HP:0040064	Abnormality of limbs	80208	SPG11	OMIM:616668
HP:0040064	Abnormality of limbs	57731	SPTBN4	OMIM:617519
HP:0040064	Abnormality of limbs	29968	PSAT1	ORPHA:284417
HP:0040064	Abnormality of limbs	57190	SELENON	ORPHA:2020
HP:0040064	Abnormality of limbs	4633	MYL2	ORPHA:2020
HP:0040064	Abnormality of limbs	3679	ITGA7	ORPHA:2020
HP:0040064	Abnormality of limbs	9200	HACD1	ORPHA:2020
HP:0040064	Abnormality of limbs	7170	TPM3	ORPHA:2020
HP:0040064	Abnormality of limbs	5297	PI4KA	OMIM:619621
HP:0040064	Abnormality of limbs	497661	C18orf32	OMIM:619985
HP:0040064	Abnormality of limbs	7407	VARS1	OMIM:617802
HP:0040064	Abnormality of limbs	203859	ANO5	ORPHA:206549
HP:0040064	Abnormality of limbs	6678	SPARC	OMIM:616507
HP:0040064	Abnormality of limbs	6905	TBCE	ORPHA:93324
HP:0040064	Abnormality of limbs	6812	STXBP1	ORPHA:495818
HP:0040064	Abnormality of limbs	79879	CCDC134	OMIM:619795
HP:0040064	Abnormality of limbs	9871	SEC24D	ORPHA:2050
HP:0040064	Abnormality of limbs	5034	P4HB	ORPHA:2050
HP:0040064	Abnormality of limbs	29887	SNX10	ORPHA:667
HP:0040064	Abnormality of limbs	55603	TENT5A	OMIM:617952
HP:0040064	Abnormality of limbs	6514	SLC2A2	ORPHA:2088
HP:0040064	Abnormality of limbs	7157	TP53	ORPHA:668
HP:0040064	Abnormality of limbs	11200	CHEK2	ORPHA:668
HP:0040064	Abnormality of limbs	5700	PSMC1	OMIM:620071
HP:0040064	Abnormality of limbs	59345	GNB4	OMIM:615185
HP:0040064	Abnormality of limbs	55958	KLHL9	ORPHA:399081
HP:0040064	Abnormality of limbs	5375	PMP2	OMIM:618279
HP:0040064	Abnormality of limbs	10613	ERLIN1	OMIM:615681
HP:0040064	Abnormality of limbs	8988	HSPB3	OMIM:613376
HP:0040064	Abnormality of limbs	7453	WARS1	OMIM:617721
HP:0040064	Abnormality of limbs	79784	MYH14	OMIM:614369
HP:0040064	Abnormality of limbs	6606	SMN1	OMIM:253400
HP:0040064	Abnormality of limbs	6607	SMN2	OMIM:253400
HP:0040064	Abnormality of limbs	51062	ATL1	ORPHA:100984
HP:0040064	Abnormality of limbs	9197	SLC33A1	ORPHA:171863
HP:0040064	Abnormality of limbs	23516	SLC39A14	OMIM:617013
HP:0040064	Abnormality of limbs	6389	SDHA	ORPHA:3208
HP:0040064	Abnormality of limbs	644096	SDHAF1	ORPHA:3208
HP:0040064	Abnormality of limbs	54834	GDAP2	OMIM:618369
HP:0040064	Abnormality of limbs	10939	AFG3L2	OMIM:610246
HP:0040064	Abnormality of limbs	84188	FAR1	ORPHA:447753
HP:0040064	Abnormality of limbs	6687	SPG7	ORPHA:99013
HP:0040064	Abnormality of limbs	6687	SPG7	OMIM:607259
HP:0040064	Abnormality of limbs	100147744	RNU7-1	OMIM:619487
HP:0040064	Abnormality of limbs	5917	RARS1	ORPHA:438114
HP:0040064	Abnormality of limbs	283989	TSEN54	ORPHA:2524
HP:0040064	Abnormality of limbs	116461	TSEN15	ORPHA:2524
HP:0040064	Abnormality of limbs	79042	TSEN34	ORPHA:2524
HP:0040064	Abnormality of limbs	80746	TSEN2	ORPHA:2524
HP:0040064	Abnormality of limbs	51091	SEPSECS	ORPHA:2524
HP:0040064	Abnormality of limbs	79152	FA2H	ORPHA:171629
HP:0040064	Abnormality of limbs	5010	CLDN11	OMIM:619328
HP:0040064	Abnormality of limbs	137492	VPS37A	OMIM:614898
HP:0040064	Abnormality of limbs	3798	KIF5A	OMIM:604187
HP:0040064	Abnormality of limbs	54902	TTC19	OMIM:615157
HP:0040064	Abnormality of limbs	7415	VCP	ORPHA:329475
HP:0040064	Abnormality of limbs	25814	ATXN10	OMIM:603516
HP:0040064	Abnormality of limbs	4524	MTHFR	ORPHA:395
HP:0040064	Abnormality of limbs	6683	SPAST	ORPHA:100985
HP:0040064	Abnormality of limbs	6683	SPAST	OMIM:182601
HP:0040064	Abnormality of limbs	80821	DDHD1	OMIM:609340
HP:0040064	Abnormality of limbs	80821	DDHD1	ORPHA:101008
HP:0040064	Abnormality of limbs	55187	VPS13D	OMIM:607317
HP:0040064	Abnormality of limbs	81790	RNF170	OMIM:619686
HP:0040064	Abnormality of limbs	518	ATP5MC3	OMIM:619681
HP:0040064	Abnormality of limbs	51324	SPG21	OMIM:248900
HP:0040064	Abnormality of limbs	51324	SPG21	ORPHA:101001
HP:0040064	Abnormality of limbs	51116	MRPS2	OMIM:617950
HP:0040064	Abnormality of limbs	84665	MYPN	ORPHA:171881
HP:0040064	Abnormality of limbs	9692	PRORP	OMIM:619737
HP:0040064	Abnormality of limbs	118813	ZFYVE27	OMIM:610244
HP:0040064	Abnormality of limbs	823	CAPN1	OMIM:616907
HP:0040064	Abnormality of limbs	823	CAPN1	ORPHA:488594
HP:0040064	Abnormality of limbs	246243	RNASEH1	OMIM:616479
HP:0040064	Abnormality of limbs	84668	HYCC1	OMIM:610532
HP:0040064	Abnormality of limbs	9907	AP5Z1	OMIM:613647
HP:0040064	Abnormality of limbs	9907	AP5Z1	ORPHA:306511
HP:0040064	Abnormality of limbs	5621	PRNP	ORPHA:356
HP:0040064	Abnormality of limbs	5621	PRNP	OMIM:137440
HP:0040064	Abnormality of limbs	3839	KPNA3	OMIM:620106
HP:0040064	Abnormality of limbs	3839	KPNA3	ORPHA:171612
HP:0040064	Abnormality of limbs	1639	DCTN1	OMIM:607641
HP:0040064	Abnormality of limbs	100134444	KCNJ18	ORPHA:79102
HP:0040064	Abnormality of limbs	779	CACNA1S	ORPHA:79102
HP:0040064	Abnormality of limbs	3766	KCNJ10	ORPHA:199343
HP:0040064	Abnormality of limbs	6253	RTN2	OMIM:604805
HP:0040064	Abnormality of limbs	6253	RTN2	ORPHA:100993
HP:0040064	Abnormality of limbs	23175	LPIN1	ORPHA:99845
HP:0040064	Abnormality of limbs	4512	MT-CO1	ORPHA:99845
HP:0040064	Abnormality of limbs	4514	MT-CO3	ORPHA:99845
HP:0040064	Abnormality of limbs	3329	HSPD1	OMIM:605280
HP:0040064	Abnormality of limbs	3329	HSPD1	ORPHA:100994
HP:0040064	Abnormality of limbs	57704	GBA2	OMIM:614409
HP:0040064	Abnormality of limbs	5354	PLP1	OMIM:312920
HP:0040064	Abnormality of limbs	51271	UBAP1	ORPHA:100993
HP:0040064	Abnormality of limbs	3991	LIPE	OMIM:615980
HP:0040064	Abnormality of limbs	1080	CFTR	ORPHA:498359
HP:0040064	Abnormality of limbs	1508	CTSB	OMIM:148370
HP:0040064	Abnormality of limbs	80326	WNT10A	OMIM:150400
HP:0040064	Abnormality of limbs	80326	WNT10A	OMIM:257980
HP:0040064	Abnormality of limbs	8710	SERPINB7	OMIM:615598
HP:0040064	Abnormality of limbs	64065	PERP	ORPHA:659
HP:0040064	Abnormality of limbs	284654	RSPO1	OMIM:610644
HP:0040064	Abnormality of limbs	1041	CDSN	OMIM:270300
HP:0040064	Abnormality of limbs	5317	PKP1	OMIM:604536
HP:0040064	Abnormality of limbs	3861	KRT14	ORPHA:89838
HP:0040064	Abnormality of limbs	3861	KRT14	OMIM:131800
HP:0040064	Abnormality of limbs	3861	KRT14	ORPHA:79400
HP:0040064	Abnormality of limbs	3868	KRT16	ORPHA:2309
HP:0040064	Abnormality of limbs	3872	KRT17	ORPHA:2309
HP:0040064	Abnormality of limbs	3853	KRT6A	ORPHA:2309
HP:0040064	Abnormality of limbs	3854	KRT6B	ORPHA:2309
HP:0040064	Abnormality of limbs	1828	DSG1	OMIM:148700
HP:0040064	Abnormality of limbs	362	AQP5	OMIM:600231
HP:0040064	Abnormality of limbs	362	AQP5	ORPHA:2337
HP:0040064	Abnormality of limbs	145264	SERPINA12	ORPHA:86923
HP:0040064	Abnormality of limbs	54800	KLHL24	OMIM:617294
HP:0040064	Abnormality of limbs	9342	SNAP29	ORPHA:66631
HP:0040064	Abnormality of limbs	79651	RHBDF2	OMIM:148500
HP:0040064	Abnormality of limbs	3857	KRT9	ORPHA:2199
HP:0040064	Abnormality of limbs	4014	LORICRIN	OMIM:604117
HP:0040064	Abnormality of limbs	4014	LORICRIN	ORPHA:79395
HP:0040064	Abnormality of limbs	488	ATP2A2	OMIM:101900
HP:0040064	Abnormality of limbs	488	ATP2A2	ORPHA:79151
HP:0040064	Abnormality of limbs	831	CAST	OMIM:616295
HP:0040064	Abnormality of limbs	79719	AAGAB	OMIM:148600
HP:0040064	Abnormality of limbs	26276	VPS33B	OMIM:620009
HP:0040064	Abnormality of limbs	286887	KRT6C	OMIM:615735
HP:0040064	Abnormality of limbs	79650	USB1	OMIM:604173
HP:0040064	Abnormality of limbs	5792	PTPRF	OMIM:616001
HP:0040064	Abnormality of limbs	129563	DIS3L2	ORPHA:2849
HP:0040064	Abnormality of limbs	5824	PEX19	ORPHA:44
HP:0040064	Abnormality of limbs	8504	PEX3	ORPHA:44
HP:0040064	Abnormality of limbs	8799	PEX11B	ORPHA:44
HP:0040064	Abnormality of limbs	5194	PEX13	ORPHA:44
HP:0040064	Abnormality of limbs	5195	PEX14	ORPHA:44
HP:0040064	Abnormality of limbs	9333	TGM5	ORPHA:263534
HP:0040064	Abnormality of limbs	1475	CSTA	ORPHA:263534
HP:0040064	Abnormality of limbs	55107	ANO1	OMIM:620045
HP:0040064	Abnormality of limbs	23230	VPS13A	ORPHA:2388
HP:0040064	Abnormality of limbs	10667	FARS2	ORPHA:466722
HP:0040064	Abnormality of limbs	84342	COG8	OMIM:611182
HP:0040064	Abnormality of limbs	9987	HNRNPDL	OMIM:609115
HP:0040064	Abnormality of limbs	2706	GJB2	ORPHA:477
HP:0040064	Abnormality of limbs	3236	HOXD10	OMIM:192950
HP:0040064	Abnormality of limbs	54828	BCAS3	OMIM:619641
HP:0040064	Abnormality of limbs	57477	SHROOM4	ORPHA:85288
HP:0040064	Abnormality of limbs	3459	IFNGR1	OMIM:209950
HP:0040064	Abnormality of limbs	29928	TIMM22	OMIM:618851
HP:0040064	Abnormality of limbs	84700	MYO18B	OMIM:616549
HP:0040064	Abnormality of limbs	4897	NRCAM	OMIM:619833
HP:0040064	Abnormality of limbs	8546	AP3B1	OMIM:608233
HP:0040064	Abnormality of limbs	405753	DUOXA2	ORPHA:95716
HP:0040064	Abnormality of limbs	6528	SLC5A5	ORPHA:95716
HP:0040064	Abnormality of limbs	7038	TG	ORPHA:95716
HP:0040064	Abnormality of limbs	7173	TPO	ORPHA:95716
HP:0040064	Abnormality of limbs	389434	IYD	ORPHA:95716
HP:0040064	Abnormality of limbs	50506	DUOX2	ORPHA:95716
HP:0040064	Abnormality of limbs	7253	TSHR	ORPHA:90673
HP:0040064	Abnormality of limbs	7252	TSHB	ORPHA:90674
HP:0040064	Abnormality of limbs	8443	GNPAT	OMIM:222765
HP:0040064	Abnormality of limbs	8942	KYNU	OMIM:617661
HP:0040064	Abnormality of limbs	7143	TNR	OMIM:619653
HP:0040064	Abnormality of limbs	112476	PRRT2	ORPHA:569
HP:0040064	Abnormality of limbs	1180	CLCN1	OMIM:255700
HP:0040064	Abnormality of limbs	55157	DARS2	ORPHA:137898
HP:0040064	Abnormality of limbs	10367	MICU1	OMIM:615673
HP:0040064	Abnormality of limbs	5346	PLIN1	ORPHA:280356
HP:0040064	Abnormality of limbs	63924	CIDEC	ORPHA:435651
HP:0040064	Abnormality of limbs	8425	LTBP4	ORPHA:98896
HP:0040064	Abnormality of limbs	203547	VMA21	OMIM:310440
HP:0040064	Abnormality of limbs	64208	POPDC3	OMIM:618848
HP:0040064	Abnormality of limbs	1371	CPOX	ORPHA:79273
HP:0040064	Abnormality of limbs	90523	MLIP	OMIM:620138
HP:0040064	Abnormality of limbs	3145	HMBS	ORPHA:79276
HP:0040064	Abnormality of limbs	5498	PPOX	ORPHA:79473
HP:0040064	Abnormality of limbs	6786	STIM1	OMIM:160565
HP:0040064	Abnormality of limbs	90678	LRSAM1	OMIM:614436
HP:0040064	Abnormality of limbs	1130	LYST	OMIM:214500
HP:0040064	Abnormality of limbs	116228	COX20	OMIM:619054
HP:0040064	Abnormality of limbs	29967	LRP12	OMIM:164310
HP:0040064	Abnormality of limbs	64423	INF2	OMIM:614455
HP:0040064	Abnormality of limbs	3178	HNRNPA1	OMIM:615424
HP:0040064	Abnormality of limbs	3735	KARS1	OMIM:613641
HP:0040064	Abnormality of limbs	88	ACTN2	OMIM:618655
HP:0040064	Abnormality of limbs	89874	SLC25A21	OMIM:618811
HP:0040064	Abnormality of limbs	10558	SPTLC1	ORPHA:36386
HP:0040064	Abnormality of limbs	25923	ATL3	ORPHA:36386
HP:0040064	Abnormality of limbs	65260	COA7	OMIM:618387
HP:0040064	Abnormality of limbs	91574	MTRFR	OMIM:615035
HP:0040064	Abnormality of limbs	91574	MTRFR	ORPHA:320375
HP:0040064	Abnormality of limbs	57863	CADM3	OMIM:619519
HP:0040064	Abnormality of limbs	476	ATP1A1	OMIM:618036
HP:0040064	Abnormality of limbs	23095	KIF1B	OMIM:118210
HP:0040064	Abnormality of limbs	10280	SIGMAR1	OMIM:605726
HP:0040064	Abnormality of limbs	3300	DNAJB2	OMIM:614881
HP:0040064	Abnormality of limbs	9997	SCO2	ORPHA:521411
HP:0040064	Abnormality of limbs	3508	IGHMBP2	OMIM:616155
HP:0040064	Abnormality of limbs	1337	COX6A1	OMIM:616039
HP:0040064	Abnormality of limbs	79628	SH3TC2	ORPHA:99949
HP:0040064	Abnormality of limbs	4771	NF2	ORPHA:637
HP:0040064	Abnormality of limbs	26278	SACS	OMIM:270550
HP:0040064	Abnormality of limbs	9782	MATR3	OMIM:606070
HP:0040064	Abnormality of limbs	4311	MME	OMIM:617017
HP:0040064	Abnormality of limbs	4311	MME	ORPHA:497764
HP:0040064	Abnormality of limbs	4508	MT-ATP6	ORPHA:320360
HP:0040064	Abnormality of limbs	11284	PNKP	ORPHA:459033
HP:0040064	Abnormality of limbs	55775	TDP1	ORPHA:94124
HP:0040064	Abnormality of limbs	7879	RAB7A	OMIM:600882
HP:0040064	Abnormality of limbs	6652	SORD	OMIM:618912
HP:0040064	Abnormality of limbs	79048	SECISBP2	ORPHA:171706
HP:0040064	Abnormality of limbs	3035	HARS1	ORPHA:488333
HP:0040064	Abnormality of limbs	64856	VWA1	OMIM:619216
HP:0040064	Abnormality of limbs	4547	MTTP	ORPHA:14
HP:0040064	Abnormality of limbs	8557	TCAP	OMIM:601954
HP:0040064	Abnormality of limbs	2705	GJB1	OMIM:302800
HP:0040064	Abnormality of limbs	9517	SPTLC2	OMIM:613640
HP:0040064	Abnormality of limbs	55526	DHTKD1	OMIM:615025
HP:0040064	Abnormality of limbs	121512	FGD4	OMIM:609311
HP:0040064	Abnormality of limbs	10755	GIPC1	ORPHA:98897
HP:0040064	Abnormality of limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0040064	Abnormality of limbs	23259	DDHD2	OMIM:615033
HP:0040064	Abnormality of limbs	400916	CHCHD10	ORPHA:457050
HP:0040064	Abnormality of limbs	400916	CHCHD10	ORPHA:276435
HP:0040064	Abnormality of limbs	1785	DNM2	OMIM:160150
HP:0040064	Abnormality of limbs	64419	MTMR14	OMIM:160150
HP:0040064	Abnormality of limbs	26353	HSPB8	OMIM:158590
HP:0040064	Abnormality of limbs	7428	VHL	ORPHA:892
HP:0040064	Abnormality of limbs	595	CCND1	ORPHA:892
HP:0040064	Abnormality of limbs	11117	EMILIN1	OMIM:620080
HP:0040064	Abnormality of limbs	1674	DES	ORPHA:98909
HP:0040064	Abnormality of limbs	57410	SCYL1	ORPHA:466794
HP:0040064	Abnormality of limbs	126129	CPT1C	ORPHA:444099
HP:0040064	Abnormality of limbs	23676	SMPX	OMIM:301075
HP:0040064	Abnormality of limbs	55149	MTPAP	OMIM:613672
HP:0040064	Abnormality of limbs	81545	FBXO38	OMIM:615575
HP:0040064	Abnormality of limbs	200205	IBA57	ORPHA:468661
HP:0040064	Abnormality of limbs	5165	PDK3	OMIM:300905
HP:0040064	Abnormality of limbs	122622	ADSS1	ORPHA:482601
HP:0040064	Abnormality of limbs	7273	TTN	ORPHA:609
HP:0040064	Abnormality of limbs	8878	SQSTM1	ORPHA:603
HP:0040064	Abnormality of limbs	7072	TIA1	ORPHA:603
HP:0040064	Abnormality of limbs	6329	SCN4A	ORPHA:98913
HP:0040064	Abnormality of limbs	1134	CHRNA1	ORPHA:98913
HP:0040064	Abnormality of limbs	1140	CHRNB1	ORPHA:98913
HP:0040064	Abnormality of limbs	1144	CHRND	ORPHA:98913
HP:0040064	Abnormality of limbs	1145	CHRNE	ORPHA:98913
HP:0040064	Abnormality of limbs	4593	MUSK	ORPHA:98913
HP:0040064	Abnormality of limbs	5913	RAPSN	ORPHA:98913
HP:0040064	Abnormality of limbs	221264	AK9	ORPHA:98913
HP:0040064	Abnormality of limbs	285489	DOK7	ORPHA:98913
HP:0040064	Abnormality of limbs	2050	EPHB4	ORPHA:137667
HP:0040064	Abnormality of limbs	57679	ALS2	OMIM:205100
HP:0040064	Abnormality of limbs	79912	PYROXD1	OMIM:617258
HP:0040064	Abnormality of limbs	10765	KDM5B	OMIM:618109
HP:0040064	Abnormality of limbs	10093	ARPC4	OMIM:620141
HP:0040064	Abnormality of limbs	2019	EN1	OMIM:619218
HP:0040064	Abnormality of limbs	6909	TBX2	OMIM:618223
HP:0040064	Abnormality of limbs	1718	DHCR24	OMIM:602398
HP:0040064	Abnormality of limbs	1235	CCR6	ORPHA:220402
HP:0040064	Abnormality of limbs	79932	KIAA0319L	ORPHA:220402
HP:0040064	Abnormality of limbs	1490	CCN2	ORPHA:220402
HP:0040064	Abnormality of limbs	3663	IRF5	ORPHA:220402
HP:0040064	Abnormality of limbs	3123	HLA-DRB1	ORPHA:220402
HP:0040064	Abnormality of limbs	113179	ADAT3	ORPHA:363528
HP:0040064	Abnormality of limbs	7390	UROS	OMIM:263700
HP:0040064	Abnormality of limbs	57449	PLEKHG5	OMIM:611067
HP:0040064	Abnormality of limbs	28982	FLVCR1	OMIM:609033
HP:0040064	Abnormality of limbs	55131	RBM28	ORPHA:157954
HP:0040064	Abnormality of limbs	55131	RBM28	OMIM:612079
HP:0040064	Abnormality of limbs	55280	CWF19L1	ORPHA:453521
HP:0040064	Abnormality of limbs	23586	RIGI	OMIM:616298
HP:0040064	Abnormality of limbs	8452	CUL3	OMIM:619239
HP:0040064	Abnormality of limbs	51412	ACTL6B	OMIM:618470
HP:0040064	Abnormality of limbs	10651	MTX2	ORPHA:90153
HP:0040064	Abnormality of limbs	24140	FTSJ1	OMIM:309549
HP:0040064	Abnormality of limbs	2475	MTOR	OMIM:616638
HP:0040064	Abnormality of limbs	54	ACP5	ORPHA:1855
HP:0040064	Abnormality of limbs	5281	PIGF	OMIM:619356
HP:0040064	Abnormality of limbs	2677	GGCX	OMIM:277450
HP:0040064	Abnormality of limbs	415	ARSL	ORPHA:79345
HP:0040064	Abnormality of limbs	415	ARSL	OMIM:302950
HP:0040064	Abnormality of limbs	60401	EDA2R	ORPHA:181
HP:0040064	Abnormality of limbs	1896	EDA	ORPHA:181
HP:0040064	Abnormality of limbs	4256	MGP	ORPHA:85202
HP:0040064	Abnormality of limbs	4256	MGP	OMIM:245150
HP:0040064	Abnormality of limbs	1186	CLCN7	ORPHA:53
HP:0040064	Abnormality of limbs	865	CBFB	OMIM:620099
HP:0040064	Abnormality of limbs	6711	SPTBN1	OMIM:619475
HP:0040064	Abnormality of limbs	71	ACTG1	ORPHA:2995
HP:0040064	Abnormality of limbs	6135	RPL11	ORPHA:124
HP:0040064	Abnormality of limbs	6138	RPL15	ORPHA:124
HP:0040064	Abnormality of limbs	6229	RPS24	ORPHA:124
HP:0040064	Abnormality of limbs	6125	RPL5	ORPHA:124
HP:0040064	Abnormality of limbs	6204	RPS10	ORPHA:124
HP:0040064	Abnormality of limbs	6224	RPS20	ORPHA:124
HP:0040064	Abnormality of limbs	6165	RPL35A	ORPHA:124
HP:0040064	Abnormality of limbs	6223	RPS19	ORPHA:124
HP:0040064	Abnormality of limbs	6223	RPS19	OMIM:105650
HP:0040064	Abnormality of limbs	6232	RPS27	ORPHA:124
HP:0040064	Abnormality of limbs	6231	RPS26	ORPHA:124
HP:0040064	Abnormality of limbs	11224	RPL35	ORPHA:124
HP:0040064	Abnormality of limbs	6160	RPL31	ORPHA:124
HP:0040064	Abnormality of limbs	6218	RPS17	ORPHA:124
HP:0040064	Abnormality of limbs	6201	RPS7	ORPHA:124
HP:0040064	Abnormality of limbs	6155	RPL27	ORPHA:124
HP:0040064	Abnormality of limbs	6210	RPS15A	ORPHA:124
HP:0040064	Abnormality of limbs	90121	TSR2	ORPHA:124
HP:0040064	Abnormality of limbs	6141	RPL18	ORPHA:124
HP:0040064	Abnormality of limbs	6235	RPS29	ORPHA:124
HP:0040064	Abnormality of limbs	6234	RPS28	ORPHA:124
HP:0040064	Abnormality of limbs	51816	ADA2	ORPHA:124
HP:0040064	Abnormality of limbs	10992	SF3B2	OMIM:164210
HP:0040064	Abnormality of limbs	27152	INTU	OMIM:617926
HP:0040064	Abnormality of limbs	57020	VPS35L	OMIM:619135
HP:0040064	Abnormality of limbs	6736	SRY	ORPHA:1772
HP:0040064	Abnormality of limbs	26224	FBXL3	OMIM:606220
HP:0040064	Abnormality of limbs	55612	FERMT1	ORPHA:2908
HP:0040064	Abnormality of limbs	64175	P3H1	OMIM:610915
HP:0040064	Abnormality of limbs	5593	PRKG2	OMIM:619636
HP:0040064	Abnormality of limbs	4810	NHS	ORPHA:627
HP:0040064	Abnormality of limbs	55252	ASXL2	OMIM:617190
HP:0040064	Abnormality of limbs	90417	KNSTRN	OMIM:613328
HP:0040064	Abnormality of limbs	5293	PIK3CD	OMIM:613328
HP:0040064	Abnormality of limbs	10059	DNM1L	OMIM:614388
HP:0040064	Abnormality of limbs	4329	ALDH6A1	OMIM:614105
HP:0040064	Abnormality of limbs	6878	TAF6	OMIM:617126
HP:0040064	Abnormality of limbs	285362	SUMF1	ORPHA:585
HP:0040064	Abnormality of limbs	3764	KCNJ8	ORPHA:1517
HP:0040064	Abnormality of limbs	60	ACTB	OMIM:243310
HP:0040064	Abnormality of limbs	10060	ABCC9	OMIM:239850
HP:0040064	Abnormality of limbs	158326	FREM1	ORPHA:217266
HP:0040064	Abnormality of limbs	3170	FOXA2	ORPHA:95494
HP:0040064	Abnormality of limbs	5015	OTX2	ORPHA:95494
HP:0040064	Abnormality of limbs	3899	AFF3	OMIM:619297
HP:0040064	Abnormality of limbs	22897	CEP164	OMIM:614845
HP:0040064	Abnormality of limbs	26146	TRAF3IP1	OMIM:616629
HP:0040064	Abnormality of limbs	8802	SUCLG1	ORPHA:17
HP:0040064	Abnormality of limbs	83879	CDCA7	OMIM:616910
HP:0040064	Abnormality of limbs	5813	PURA	ORPHA:314655
HP:0040064	Abnormality of limbs	4758	NEU1	ORPHA:93400
HP:0040064	Abnormality of limbs	29926	GMPPA	ORPHA:869
HP:0040064	Abnormality of limbs	60684	TRAPPC11	ORPHA:869
HP:0040064	Abnormality of limbs	8086	AAAS	ORPHA:869
HP:0040064	Abnormality of limbs	4927	NUP88	ORPHA:994
HP:0040064	Abnormality of limbs	7846	TUBA1A	ORPHA:994
HP:0040064	Abnormality of limbs	22884	WDR37	OMIM:618652
HP:0040064	Abnormality of limbs	8516	ITGA8	ORPHA:1848
HP:0040064	Abnormality of limbs	26281	FGF20	ORPHA:1848
HP:0040064	Abnormality of limbs	2674	GFRA1	ORPHA:1848
HP:0040064	Abnormality of limbs	7484	WNT9B	ORPHA:1848
HP:0040064	Abnormality of limbs	80000	GREB1L	ORPHA:1848
HP:0040064	Abnormality of limbs	7528	YY1	ORPHA:506358
HP:0040064	Abnormality of limbs	51256	TBC1D7	OMIM:248000
HP:0040064	Abnormality of limbs	4948	OCA2	ORPHA:98794
HP:0040064	Abnormality of limbs	123606	NIPA1	ORPHA:100988
HP:0040064	Abnormality of limbs	84892	POMGNT2	ORPHA:899
HP:0040064	Abnormality of limbs	148789	B3GALNT2	ORPHA:899
HP:0040064	Abnormality of limbs	1282	COL4A1	ORPHA:899
HP:0040064	Abnormality of limbs	10329	RXYLT1	ORPHA:899
HP:0040064	Abnormality of limbs	11041	B4GAT1	ORPHA:899
HP:0040064	Abnormality of limbs	51111	KMT5B	OMIM:617788
HP:0040064	Abnormality of limbs	80347	COASY	OMIM:618266
HP:0040064	Abnormality of limbs	54809	SAMD9	OMIM:617053
HP:0040064	Abnormality of limbs	348180	CTU2	OMIM:618142
HP:0040064	Abnormality of limbs	256297	PTF1A	OMIM:609069
HP:0040064	Abnormality of limbs	129285	PPP1R21	OMIM:619383
HP:0040064	Abnormality of limbs	8567	MADD	OMIM:619004
HP:0040064	Abnormality of limbs	1822	ATN1	OMIM:618494
HP:0040064	Abnormality of limbs	5591	PRKDC	OMIM:615966
HP:0040064	Abnormality of limbs	60561	RINT1	OMIM:618641
HP:0040064	Abnormality of limbs	3313	HSPA9	OMIM:616854
HP:0040064	Abnormality of limbs	10519	CIB1	OMIM:618267
HP:0040064	Abnormality of limbs	57057	TBX20	ORPHA:99103
HP:0040064	Abnormality of limbs	213	ALB	ORPHA:86816
HP:0040064	Abnormality of limbs	7075	TIE1	OMIM:619401
HP:0040064	Abnormality of limbs	3662	IRF4	ORPHA:3452
HP:0040064	Abnormality of limbs	84196	USP48	ORPHA:96253
HP:0040064	Abnormality of limbs	64072	CDH23	ORPHA:96253
HP:0040064	Abnormality of limbs	2908	NR3C1	ORPHA:96253
HP:0040064	Abnormality of limbs	4615	MYD88	ORPHA:33226
HP:0040064	Abnormality of limbs	950	SCARB2	ORPHA:77259
HP:0040064	Abnormality of limbs	7424	VEGFC	OMIM:615907
HP:0040064	Abnormality of limbs	657	BMPR1A	ORPHA:79076
HP:0040064	Abnormality of limbs	60529	ALX4	ORPHA:60015
HP:0040064	Abnormality of limbs	5587	PRKD1	OMIM:617364
HP:0040064	Abnormality of limbs	85465	SELENOI	ORPHA:506353
HP:0040064	Abnormality of limbs	85465	SELENOI	OMIM:618768
HP:0040064	Abnormality of limbs	4728	NDUFS8	OMIM:618222
HP:0040064	Abnormality of limbs	959	CD40LG	OMIM:308230
HP:0040064	Abnormality of limbs	2258	FGF13	OMIM:301058
HP:0040064	Abnormality of limbs	440193	CCDC88C	OMIM:616053
HP:0040064	Abnormality of limbs	6647	SOD1	OMIM:618598
HP:0040064	Abnormality of limbs	84340	GFM2	OMIM:618397
HP:0040064	Abnormality of limbs	84340	GFM2	ORPHA:565624
HP:0040064	Abnormality of limbs	9409	PEX16	OMIM:614877
HP:0040064	Abnormality of limbs	9338	TCEAL1	OMIM:301094
HP:0040064	Abnormality of limbs	55129	ANO10	ORPHA:284289
HP:0040064	Abnormality of limbs	219285	SAMD9L	OMIM:159550
HP:0040064	Abnormality of limbs	9289	ADGRG1	OMIM:606854
HP:0040064	Abnormality of limbs	7345	UCHL1	OMIM:615491
HP:0040064	Abnormality of limbs	3064	HTT	OMIM:617435
HP:0040064	Abnormality of limbs	5660	PSAP	ORPHA:206436
HP:0040064	Abnormality of limbs	1678	TIMM8A	ORPHA:52368
HP:0040064	Abnormality of limbs	6567	SLC16A2	ORPHA:59
HP:0040064	Abnormality of limbs	6712	SPTBN2	OMIM:600224
HP:0040064	Abnormality of limbs	10749	KIF1C	OMIM:611302
HP:0040064	Abnormality of limbs	8398	PLA2G6	OMIM:612953
HP:0040064	Abnormality of limbs	113278	SLC52A3	OMIM:211530
HP:0040064	Abnormality of limbs	1757	SARDH	ORPHA:3129
HP:0040064	Abnormality of limbs	65055	REEP1	OMIM:614751
HP:0040064	Abnormality of limbs	3032	HADHB	ORPHA:746
HP:0040064	Abnormality of limbs	3030	HADHA	ORPHA:746
HP:0040064	Abnormality of limbs	10079	ATP9A	OMIM:620242
HP:0040064	Abnormality of limbs	654	BMP6	ORPHA:465508
HP:0040064	Abnormality of limbs	3077	HFE	ORPHA:465508
HP:0040064	Abnormality of limbs	22943	DKK1	ORPHA:268882
HP:0040064	Abnormality of limbs	7051	TGM1	ORPHA:281127
HP:0040064	Abnormality of limbs	3835	KIF22	OMIM:603546
HP:0040064	Abnormality of limbs	9711	RUBCN	OMIM:615705
HP:0040064	Abnormality of limbs	10159	ATP6AP2	ORPHA:93952
HP:0040064	Abnormality of limbs	8869	ST3GAL5	OMIM:609056
HP:0040064	Abnormality of limbs	342035	GLDN	OMIM:617194
HP:0040064	Abnormality of limbs	6399	TRAPPC2	ORPHA:93284
HP:0040064	Abnormality of limbs	5696	PSMB8	OMIM:256040
HP:0040064	Abnormality of limbs	5692	PSMB4	OMIM:617591
HP:0040064	Abnormality of limbs	5698	PSMB9	OMIM:617591
HP:0040064	Abnormality of limbs	4952	OCRL	OMIM:309000
HP:0040064	Abnormality of limbs	57187	THOC2	OMIM:300957
HP:0040064	Abnormality of limbs	51608	GET4	OMIM:620200
HP:0040064	Abnormality of limbs	28962	OSTM1	OMIM:259720
HP:0040064	Abnormality of limbs	51112	TRAPPC12	ORPHA:500144
HP:0040064	Abnormality of limbs	29998	BICRA	OMIM:619325
HP:0040064	Abnormality of limbs	83932	SPRTN	OMIM:616200
HP:0040064	Abnormality of limbs	26012	NSMF	OMIM:614838
HP:0040064	Abnormality of limbs	55780	ERMARD	ORPHA:75857
HP:0040064	Abnormality of limbs	10559	SLC35A1	OMIM:603585
HP:0040064	Abnormality of limbs	84720	PIGO	ORPHA:247262
HP:0040064	Abnormality of limbs	93210	PGAP3	ORPHA:247262
HP:0040064	Abnormality of limbs	284098	PIGW	ORPHA:247262
HP:0040064	Abnormality of limbs	27315	PGAP2	ORPHA:247262
HP:0040064	Abnormality of limbs	92579	G6PC3	OMIM:612541
HP:0040064	Abnormality of limbs	8558	CDK10	OMIM:617694
HP:0040064	Abnormality of limbs	23137	SMC5	OMIM:620185
HP:0040064	Abnormality of limbs	79759	ZNF668	OMIM:620194
HP:0040064	Abnormality of limbs	27086	FOXP1	ORPHA:391372
HP:0040064	Abnormality of limbs	56098	PCDHGC4	OMIM:619880
HP:0040064	Abnormality of limbs	8621	CDK13	OMIM:617360
HP:0040064	Abnormality of limbs	5881	RAC3	OMIM:618577
HP:0040064	Abnormality of limbs	5426	POLE	OMIM:618336
HP:0040064	Abnormality of limbs	6664	SOX11	OMIM:615866
HP:0040064	Abnormality of limbs	6664	SOX11	ORPHA:1465
HP:0040064	Abnormality of limbs	54892	NCAPG2	OMIM:618460
HP:0040064	Abnormality of limbs	55315	SLC29A3	OMIM:602782
HP:0040064	Abnormality of limbs	999	CDH1	OMIM:119580
HP:0040064	Abnormality of limbs	23511	NUP188	OMIM:618804
HP:0040064	Abnormality of limbs	6597	SMARCA4	ORPHA:1465
HP:0040064	Abnormality of limbs	6601	SMARCC2	ORPHA:1465
HP:0040064	Abnormality of limbs	6602	SMARCD1	ORPHA:1465
HP:0040064	Abnormality of limbs	83737	ITCH	OMIM:613385
HP:0040064	Abnormality of limbs	83737	ITCH	ORPHA:228426
HP:0040064	Abnormality of limbs	93587	TRMT10A	ORPHA:391408
HP:0040064	Abnormality of limbs	84919	PPP1R15B	ORPHA:391408
HP:0040064	Abnormality of limbs	6748	SSR4	OMIM:300934
HP:0040064	Abnormality of limbs	9320	TRIP12	OMIM:617752
HP:0040064	Abnormality of limbs	84231	TRAF7	OMIM:618164
HP:0040064	Abnormality of limbs	11043	MID2	OMIM:300928
HP:0040064	Abnormality of limbs	5286	PIK3C2A	ORPHA:557003
HP:0040064	Abnormality of limbs	23309	SIN3B	ORPHA:500166
HP:0040064	Abnormality of limbs	7084	TK2	ORPHA:254886
HP:0040064	Abnormality of limbs	100	ADA	OMIM:102700
HP:0040064	Abnormality of limbs	23761	PISD	OMIM:618889
HP:0040064	Abnormality of limbs	64132	XYLT2	OMIM:605822
HP:0040064	Abnormality of limbs	10312	TCIRG1	OMIM:259700
HP:0040064	Abnormality of limbs	8792	TNFRSF11A	OMIM:612301
HP:0040064	Abnormality of limbs	221496	LEMD2	OMIM:619322
HP:0040064	Abnormality of limbs	2688	GH1	OMIM:612781
HP:0040064	Abnormality of limbs	128	ADH5	OMIM:619151
HP:0040064	Abnormality of limbs	773	CACNA1A	ORPHA:2131
HP:0040064	Abnormality of limbs	6507	SLC1A3	ORPHA:2131
HP:0040064	Abnormality of limbs	477	ATP1A2	ORPHA:2131
HP:0040064	Abnormality of limbs	478	ATP1A3	ORPHA:2131
HP:0040064	Abnormality of limbs	10625	IVNS1ABP	OMIM:618969
HP:0040064	Abnormality of limbs	920	CD4	OMIM:619238
HP:0040064	Abnormality of limbs	81570	CLPB	OMIM:616271
HP:0040064	Abnormality of limbs	242	ALOX12B	OMIM:242100
HP:0040064	Abnormality of limbs	59344	ALOXE3	OMIM:242100
HP:0040064	Abnormality of limbs	59344	ALOXE3	OMIM:606545
HP:0040064	Abnormality of limbs	126410	CYP4F22	OMIM:604777
HP:0040064	Abnormality of limbs	126695	KDF1	OMIM:617337
HP:0040064	Abnormality of limbs	412	STS	OMIM:308100
HP:0040064	Abnormality of limbs	204219	CERS3	OMIM:615023
HP:0040064	Abnormality of limbs	2312	FLG	OMIM:146700
HP:0040064	Abnormality of limbs	3373	HYAL1	OMIM:601492
HP:0040064	Abnormality of limbs	1747	DLX3	ORPHA:3352
HP:0040064	Abnormality of limbs	3767	KCNJ11	ORPHA:79134
HP:0040064	Abnormality of limbs	79731	NARS2	ORPHA:79134
HP:0040064	Abnormality of limbs	6833	ABCC8	ORPHA:79134
HP:0040064	Abnormality of limbs	199221	DZIP1L	ORPHA:731
HP:0040064	Abnormality of limbs	5314	PKHD1	ORPHA:731
HP:0040064	Abnormality of limbs	346171	ZFP57	ORPHA:99886
HP:0040064	Abnormality of limbs	57061	HYMAI	ORPHA:99886
HP:0040064	Abnormality of limbs	5325	PLAGL1	ORPHA:99886
HP:0040064	Abnormality of limbs	55858	TMEM165	OMIM:614727
HP:0040064	Abnormality of limbs	1063	CENPF	OMIM:243605
HP:0040064	Abnormality of limbs	9371	KIF3B	OMIM:618955
HP:0040064	Abnormality of limbs	286204	CRB2	OMIM:219730
HP:0040064	Abnormality of limbs	57511	COG6	OMIM:614576
HP:0040064	Abnormality of limbs	84300	UQCC2	OMIM:615824
HP:0040064	Abnormality of limbs	54968	TMEM70	ORPHA:1194
HP:0040064	Abnormality of limbs	84466	MEGF10	OMIM:614399
HP:0040064	Abnormality of limbs	64127	NOD2	OMIM:186580
HP:0040064	Abnormality of limbs	64127	NOD2	ORPHA:90340
HP:0040064	Abnormality of limbs	23102	TBC1D2B	OMIM:619323
HP:0040064	Abnormality of limbs	2068	ERCC2	OMIM:610756
HP:0040064	Abnormality of limbs	2068	ERCC2	ORPHA:1466
HP:0040064	Abnormality of limbs	2073	ERCC5	ORPHA:1466
HP:0040064	Abnormality of limbs	5921	RASA1	ORPHA:90307
HP:0040064	Abnormality of limbs	2335	FN1	ORPHA:93315
HP:0040064	Abnormality of limbs	2776	GNAQ	ORPHA:624
HP:0040064	Abnormality of limbs	3110	MNX1	ORPHA:1552
HP:0040064	Abnormality of limbs	203068	TUBB	ORPHA:2505
HP:0040064	Abnormality of limbs	55109	AGGF1	ORPHA:90308
HP:0040064	Abnormality of limbs	55651	NHP2	ORPHA:1775
HP:0040064	Abnormality of limbs	55135	WRAP53	ORPHA:1775
HP:0040064	Abnormality of limbs	4869	NPM1	ORPHA:1775
HP:0040064	Abnormality of limbs	55505	NOP10	ORPHA:1775
HP:0040064	Abnormality of limbs	1736	DKC1	ORPHA:1775
HP:0040064	Abnormality of limbs	2212	FCGR2A	OMIM:219700
HP:0040064	Abnormality of limbs	3071	NCKAP1L	OMIM:618982
HP:0040064	Abnormality of limbs	987	LRBA	OMIM:614700
HP:0040064	Abnormality of limbs	729238	SFTPA2	ORPHA:2032
HP:0040064	Abnormality of limbs	729238	SFTPA2	OMIM:178500
HP:0040064	Abnormality of limbs	79991	STN1	ORPHA:2032
HP:0040064	Abnormality of limbs	727897	MUC5B	ORPHA:2032
HP:0040064	Abnormality of limbs	727897	MUC5B	OMIM:178500
HP:0040064	Abnormality of limbs	10144	FAM13A	ORPHA:2032
HP:0040064	Abnormality of limbs	23250	ATP11A	ORPHA:2032
HP:0040064	Abnormality of limbs	91039	DPP9	ORPHA:2032
HP:0040064	Abnormality of limbs	51750	RTEL1	ORPHA:2032
HP:0040064	Abnormality of limbs	7012	TERC	ORPHA:2032
HP:0040064	Abnormality of limbs	5073	PARN	ORPHA:2032
HP:0040064	Abnormality of limbs	440275	EIF2AK4	ORPHA:199241
HP:0040064	Abnormality of limbs	10125	RASGRP1	OMIM:618534
HP:0040064	Abnormality of limbs	59067	IL21	OMIM:615767
HP:0040064	Abnormality of limbs	7092	TLL1	ORPHA:99106
HP:0040064	Abnormality of limbs	274	BIN1	ORPHA:169186
HP:0040064	Abnormality of limbs	10290	SPEG	ORPHA:169186
HP:0040064	Abnormality of limbs	57459	GATAD2B	OMIM:615074
HP:0040064	Abnormality of limbs	57459	GATAD2B	ORPHA:363686
HP:0040064	Abnormality of limbs	1281	COL3A1	OMIM:618343
HP:0040064	Abnormality of limbs	51520	LARS1	OMIM:615438
HP:0040064	Abnormality of limbs	116931	MED12L	OMIM:618872
HP:0040064	Abnormality of limbs	9772	TMEM94	OMIM:618316
HP:0040064	Abnormality of limbs	79971	WLS	OMIM:619648
HP:0040064	Abnormality of limbs	2556	GABRA3	OMIM:301091
HP:0040064	Abnormality of limbs	5373	PMM2	ORPHA:79318
HP:0040064	Abnormality of limbs	94	ACVRL1	OMIM:600376
HP:0040064	Abnormality of limbs	2859	GPR35	ORPHA:171
HP:0040064	Abnormality of limbs	10507	SEMA4D	ORPHA:171
HP:0040064	Abnormality of limbs	4485	MST1	ORPHA:171
HP:0040064	Abnormality of limbs	54345	SOX18	ORPHA:69735
HP:0040064	Abnormality of limbs	9842	PLEKHM1	OMIM:611497
HP:0040064	Abnormality of limbs	79705	LRRK1	OMIM:615198
HP:0040064	Abnormality of limbs	123263	MTFMT	OMIM:614947
HP:0040064	Abnormality of limbs	7486	WRN	ORPHA:902
HP:0040064	Abnormality of limbs	388662	SLC6A17	OMIM:616269
HP:0040069	Abnormal lower limb bone morphology	2254	FGF9	OMIM:612961
HP:0040069	Abnormal lower limb bone morphology	9935	MAFB	OMIM:166300
HP:0040069	Abnormal lower limb bone morphology	4313	MMP2	OMIM:259600
HP:0040069	Abnormal lower limb bone morphology	8243	SMC1A	OMIM:300590
HP:0040069	Abnormal lower limb bone morphology	8243	SMC1A	OMIM:301044
HP:0040069	Abnormal lower limb bone morphology	8243	SMC1A	ORPHA:3095
HP:0040069	Abnormal lower limb bone morphology	8243	SMC1A	ORPHA:199
HP:0040069	Abnormal lower limb bone morphology	23111	SPART	OMIM:275900
HP:0040069	Abnormal lower limb bone morphology	8450	CUL4B	OMIM:300354
HP:0040069	Abnormal lower limb bone morphology	8450	CUL4B	ORPHA:85293
HP:0040069	Abnormal lower limb bone morphology	2245	FGD1	OMIM:305400
HP:0040069	Abnormal lower limb bone morphology	2245	FGD1	ORPHA:915
HP:0040069	Abnormal lower limb bone morphology	26235	FBXL4	OMIM:615471
HP:0040069	Abnormal lower limb bone morphology	124997	WDR81	OMIM:610185
HP:0040069	Abnormal lower limb bone morphology	5648	MASP1	OMIM:257920
HP:0040069	Abnormal lower limb bone morphology	7681	MKRN3	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	3653	IPW	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	791114	PWRN1	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	8924	HERC2	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	145624	PWAR1	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	23742	NPAP1	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	338433	SNORD115-1	OMIM:176270
HP:0040069	Abnormal lower limb bone morphology	22854	NTNG1	ORPHA:3095
HP:0040069	Abnormal lower limb bone morphology	9568	GABBR2	ORPHA:3095
HP:0040069	Abnormal lower limb bone morphology	9568	GABBR2	OMIM:617903
HP:0040069	Abnormal lower limb bone morphology	4204	MECP2	ORPHA:3095
HP:0040069	Abnormal lower limb bone morphology	4204	MECP2	OMIM:300260
HP:0040069	Abnormal lower limb bone morphology	4204	MECP2	OMIM:312750
HP:0040069	Abnormal lower limb bone morphology	55869	HDAC8	OMIM:300882
HP:0040069	Abnormal lower limb bone morphology	55869	HDAC8	ORPHA:199
HP:0040069	Abnormal lower limb bone morphology	55869	HDAC8	ORPHA:3459
HP:0040069	Abnormal lower limb bone morphology	57539	WDR35	ORPHA:93271
HP:0040069	Abnormal lower limb bone morphology	1062	CENPE	OMIM:616051
HP:0040069	Abnormal lower limb bone morphology	6651	SON	OMIM:617140
HP:0040069	Abnormal lower limb bone morphology	23030	KDM4B	OMIM:619320
HP:0040069	Abnormal lower limb bone morphology	6905	TBCE	ORPHA:2323
HP:0040069	Abnormal lower limb bone morphology	6905	TBCE	OMIM:241410
HP:0040069	Abnormal lower limb bone morphology	6905	TBCE	OMIM:244460
HP:0040069	Abnormal lower limb bone morphology	6905	TBCE	ORPHA:93324
HP:0040069	Abnormal lower limb bone morphology	6492	SIM1	ORPHA:398079
HP:0040069	Abnormal lower limb bone morphology	9126	SMC3	OMIM:610759
HP:0040069	Abnormal lower limb bone morphology	9126	SMC3	ORPHA:199
HP:0040069	Abnormal lower limb bone morphology	55777	MBD5	OMIM:156200
HP:0040069	Abnormal lower limb bone morphology	6638	SNRPN	ORPHA:177904
HP:0040069	Abnormal lower limb bone morphology	6638	SNRPN	ORPHA:177901
HP:0040069	Abnormal lower limb bone morphology	6638	SNRPN	ORPHA:177910
HP:0040069	Abnormal lower limb bone morphology	6638	SNRPN	ORPHA:177907
HP:0040069	Abnormal lower limb bone morphology	6638	SNRPN	ORPHA:98754
HP:0040069	Abnormal lower limb bone morphology	4692	NDN	ORPHA:177904
HP:0040069	Abnormal lower limb bone morphology	4692	NDN	ORPHA:177901
HP:0040069	Abnormal lower limb bone morphology	4692	NDN	ORPHA:177910
HP:0040069	Abnormal lower limb bone morphology	4692	NDN	ORPHA:98754
HP:0040069	Abnormal lower limb bone morphology	4948	OCA2	ORPHA:177904
HP:0040069	Abnormal lower limb bone morphology	4948	OCA2	ORPHA:177901
HP:0040069	Abnormal lower limb bone morphology	4948	OCA2	ORPHA:98754
HP:0040069	Abnormal lower limb bone morphology	2590	GALNT2	OMIM:618885
HP:0040069	Abnormal lower limb bone morphology	818	CAMK2G	OMIM:618522
HP:0040069	Abnormal lower limb bone morphology	80204	FBXO11	OMIM:618089
HP:0040069	Abnormal lower limb bone morphology	1778	DYNC1H1	OMIM:614563
HP:0040069	Abnormal lower limb bone morphology	3064	HTT	OMIM:617435
HP:0040069	Abnormal lower limb bone morphology	6045	RNF2	OMIM:619460
HP:0040069	Abnormal lower limb bone morphology	7319	UBE2A	OMIM:300860
HP:0040069	Abnormal lower limb bone morphology	7319	UBE2A	ORPHA:163956
HP:0040069	Abnormal lower limb bone morphology	10943	MSL3	OMIM:301032
HP:0040069	Abnormal lower limb bone morphology	10087	CERT1	OMIM:616351
HP:0040069	Abnormal lower limb bone morphology	6304	SATB1	OMIM:619229
HP:0040069	Abnormal lower limb bone morphology	25942	SIN3A	OMIM:613406
HP:0040069	Abnormal lower limb bone morphology	23476	BRD4	ORPHA:199
HP:0040069	Abnormal lower limb bone morphology	25836	NIPBL	ORPHA:199
HP:0040069	Abnormal lower limb bone morphology	7874	USP7	ORPHA:500055
HP:0040069	Abnormal lower limb bone morphology	8493	PPM1D	OMIM:617450
HP:0040069	Abnormal lower limb bone morphology	8239	USP9X	ORPHA:480880
HP:0040069	Abnormal lower limb bone morphology	8239	USP9X	OMIM:300968
HP:0040069	Abnormal lower limb bone morphology	8364	H4C3	OMIM:619758
HP:0040069	Abnormal lower limb bone morphology	55343	SLC35C1	OMIM:266265
HP:0040069	Abnormal lower limb bone morphology	23556	PIGN	ORPHA:280633
HP:0040069	Abnormal lower limb bone morphology	7750	ZMYM2	OMIM:619522
HP:0040069	Abnormal lower limb bone morphology	3800	KIF5C	OMIM:615282
HP:0040069	Abnormal lower limb bone morphology	81887	LAS1L	ORPHA:3459
HP:0040069	Abnormal lower limb bone morphology	81887	LAS1L	OMIM:309585
HP:0040069	Abnormal lower limb bone morphology	8242	KDM5C	OMIM:300534
HP:0040069	Abnormal lower limb bone morphology	23162	MAPK8IP3	OMIM:618443
HP:0040069	Abnormal lower limb bone morphology	2332	FMR1	ORPHA:261483
HP:0040069	Abnormal lower limb bone morphology	147372	CCBE1	OMIM:235510
HP:0040069	Abnormal lower limb bone morphology	9130	FAM50A	OMIM:300261
HP:0040069	Abnormal lower limb bone morphology	1513	CTSK	ORPHA:763
HP:0040069	Abnormal lower limb bone morphology	8295	TRRAP	OMIM:618454
HP:0040069	Abnormal lower limb bone morphology	3480	IGF1R	OMIM:270450
HP:0040069	Abnormal lower limb bone morphology	3762	KCNJ5	ORPHA:37553
HP:0040069	Abnormal lower limb bone morphology	10075	HUWE1	OMIM:309590
HP:0040069	Abnormal lower limb bone morphology	2036	EPB41L1	OMIM:614257
HP:0040069	Abnormal lower limb bone morphology	81794	ADAMTS10	OMIM:277600
HP:0040069	Abnormal lower limb bone morphology	79600	TCTN1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	51684	SUFU	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	54806	AHI1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	54806	AHI1	ORPHA:220493
HP:0040069	Abnormal lower limb bone morphology	200894	ARL13B	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	9731	CEP104	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	219844	HYLS1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	23247	KATNIP	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	219854	TMEM218	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	54903	MKS1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	54903	MKS1	OMIM:249000
HP:0040069	Abnormal lower limb bone morphology	54903	MKS1	ORPHA:220493
HP:0040069	Abnormal lower limb bone morphology	95681	CEP41	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	95681	CEP41	ORPHA:220493
HP:0040069	Abnormal lower limb bone morphology	56623	INPP5E	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	56623	INPP5E	ORPHA:220493
HP:0040069	Abnormal lower limb bone morphology	79867	TCTN2	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	80776	B9D2	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	10464	PIBF1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	80210	ARMC9	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	23116	TOGARAM1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	25776	CBY1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	27077	B9D1	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	403	ARL3	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	65062	TMEM237	ORPHA:475
HP:0040069	Abnormal lower limb bone morphology	65062	TMEM237	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	5290	PIK3CA	ORPHA:276280
HP:0040069	Abnormal lower limb bone morphology	5290	PIK3CA	ORPHA:60040
HP:0040069	Abnormal lower limb bone morphology	84100	ARL6	OMIM:209900
HP:0040069	Abnormal lower limb bone morphology	79140	CCDC28B	OMIM:209900
HP:0040069	Abnormal lower limb bone morphology	582	BBS1	OMIM:209900
HP:0040069	Abnormal lower limb bone morphology	5590	PRKCZ	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	2563	GABRD	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	23013	SPEN	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	8510	MMP23B	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	7798	LUZP1	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	10630	PDPN	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	10277	UBE4B	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	8514	KCNAB2	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	473	RERE	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	63976	PRDM16	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	54897	CASZ1	ORPHA:1606
HP:0040069	Abnormal lower limb bone morphology	1312	COMT	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	221037	JMJD1C	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	2812	GP1BB	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	6239	RREB1	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	6899	TBX1	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	7290	HIRA	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	9632	SEC24C	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	7353	UFD1	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	421	ARVCF	ORPHA:567
HP:0040069	Abnormal lower limb bone morphology	79583	TMEM231	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	51524	TMEM138	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	23090	ZNF423	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	80184	CEP290	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	51259	TMEM216	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	51259	TMEM216	ORPHA:2754
HP:0040069	Abnormal lower limb bone morphology	57545	CC2D2A	ORPHA:2318
HP:0040069	Abnormal lower limb bone morphology	10210	TOPORS	ORPHA:2754
HP:0040069	Abnormal lower limb bone morphology	9851	KIAA0753	ORPHA:2754
HP:0040069	Abnormal lower limb bone morphology	5147	PDE6D	ORPHA:2754
HP:0040069	Abnormal lower limb bone morphology	317662	FAM149B1	ORPHA:2754
HP:0040069	Abnormal lower limb bone morphology	5566	PRKACA	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	5567	PRKACB	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	2735	GLI1	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	2121	EVC	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	51626	DYNC2LI1	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	132884	EVC2	ORPHA:289
HP:0040069	Abnormal lower limb bone morphology	26154	ABCA12	ORPHA:457
HP:0040069	Abnormal lower limb bone morphology	2137	EXTL3	ORPHA:508533
HP:0040069	Abnormal lower limb bone morphology	55112	DYNC2I1	ORPHA:474
HP:0040069	Abnormal lower limb bone morphology	57560	IFT80	ORPHA:474
HP:0040069	Abnormal lower limb bone morphology	57728	WDR19	ORPHA:474
HP:0040069	Abnormal lower limb bone morphology	89891	DYNC2I2	ORPHA:474
HP:0040069	Abnormal lower limb bone morphology	79809	TTC21B	ORPHA:474
HP:0040069	Abnormal lower limb bone morphology	6309	SC5D	ORPHA:46059
HP:0040069	Abnormal lower limb bone morphology	6309	SC5D	OMIM:607330
HP:0040069	Abnormal lower limb bone morphology	26005	C2CD3	ORPHA:434179
HP:0040069	Abnormal lower limb bone morphology	79005	SCNM1	OMIM:620107
HP:0040069	Abnormal lower limb bone morphology	79770	TXNDC15	OMIM:619879
HP:0040069	Abnormal lower limb bone morphology	79770	TXNDC15	ORPHA:564
HP:0040069	Abnormal lower limb bone morphology	55209	SETD5	ORPHA:404440
HP:0040069	Abnormal lower limb bone morphology	83479	DDX59	ORPHA:2919
HP:0040069	Abnormal lower limb bone morphology	83479	DDX59	OMIM:174300
HP:0040069	Abnormal lower limb bone morphology	23322	RPGRIP1L	OMIM:611561
HP:0040069	Abnormal lower limb bone morphology	23322	RPGRIP1L	ORPHA:564
HP:0040069	Abnormal lower limb bone morphology	10225	CD96	OMIM:211750
HP:0040069	Abnormal lower limb bone morphology	652	BMP4	ORPHA:139471
HP:0040069	Abnormal lower limb bone morphology	80173	IFT74	OMIM:617119
HP:0040069	Abnormal lower limb bone morphology	84314	TMEM107	ORPHA:564
HP:0040069	Abnormal lower limb bone morphology	84314	TMEM107	OMIM:617563
HP:0040069	Abnormal lower limb bone morphology	57096	RPGRIP1	ORPHA:564
HP:0040069	Abnormal lower limb bone morphology	27031	NPHP3	OMIM:267010
HP:0040069	Abnormal lower limb bone morphology	285600	KIAA0825	OMIM:618498
HP:0040069	Abnormal lower limb bone morphology	23288	IQCE	OMIM:617642
HP:0040069	Abnormal lower limb bone morphology	583	BBS2	OMIM:615981
HP:0040069	Abnormal lower limb bone morphology	137392	CIBAR1	OMIM:618219
HP:0040069	Abnormal lower limb bone morphology	7700	ZNF141	OMIM:615226
HP:0040069	Abnormal lower limb bone morphology	166379	BBS12	OMIM:615989
HP:0040069	Abnormal lower limb bone morphology	27241	BBS9	OMIM:615986
HP:0040069	Abnormal lower limb bone morphology	255758	DYNLT2B	OMIM:617405
HP:0040069	Abnormal lower limb bone morphology	242	ALOX12B	OMIM:242100
HP:0040069	Abnormal lower limb bone morphology	59344	ALOXE3	OMIM:242100
HP:0040069	Abnormal lower limb bone morphology	5573	PRKAR1A	ORPHA:950
HP:0040069	Abnormal lower limb bone morphology	5573	PRKAR1A	ORPHA:280651
HP:0040069	Abnormal lower limb bone morphology	7840	ALMS1	ORPHA:64
HP:0040069	Abnormal lower limb bone morphology	4882	NPR2	OMIM:602875
HP:0040069	Abnormal lower limb bone morphology	145173	B3GLCT	OMIM:261540
HP:0040069	Abnormal lower limb bone morphology	145173	B3GLCT	ORPHA:709
HP:0040069	Abnormal lower limb bone morphology	5593	PRKG2	OMIM:619636
HP:0040069	Abnormal lower limb bone morphology	5896	RAG1	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	5897	RAG2	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	64421	DCLRE1C	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	100	ADA	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	3575	IL7R	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	3561	IL2RG	ORPHA:39041
HP:0040069	Abnormal lower limb bone morphology	1788	DNMT3A	ORPHA:404443
HP:0040069	Abnormal lower limb bone morphology	55027	HEATR3	OMIM:620072
HP:0040069	Abnormal lower limb bone morphology	79718	TBL1XR1	OMIM:602342
HP:0040069	Abnormal lower limb bone morphology	79718	TBL1XR1	ORPHA:487825
HP:0040069	Abnormal lower limb bone morphology	4089	SMAD4	OMIM:139210
HP:0040069	Abnormal lower limb bone morphology	54928	BPNT2	OMIM:614078
HP:0040069	Abnormal lower limb bone morphology	23426	GRIP1	OMIM:617667
HP:0040069	Abnormal lower limb bone morphology	23384	SPECC1L	ORPHA:1519
HP:0040069	Abnormal lower limb bone morphology	4297	KMT2A	OMIM:605130
HP:0040069	Abnormal lower limb bone morphology	55650	PIGV	OMIM:239300
HP:0040069	Abnormal lower limb bone morphology	427	ASAH1	ORPHA:333
HP:0040069	Abnormal lower limb bone morphology	2719	GPC3	ORPHA:373
HP:0040069	Abnormal lower limb bone morphology	3039	HBA1	ORPHA:98791
HP:0040069	Abnormal lower limb bone morphology	3040	HBA2	ORPHA:98791
HP:0040069	Abnormal lower limb bone morphology	84295	PHF6	OMIM:301900
HP:0040069	Abnormal lower limb bone morphology	84295	PHF6	ORPHA:127
HP:0040069	Abnormal lower limb bone morphology	23483	TGDS	OMIM:616145
HP:0040069	Abnormal lower limb bone morphology	50945	TBX22	ORPHA:921
HP:0040069	Abnormal lower limb bone morphology	171023	ASXL1	OMIM:605039
HP:0040069	Abnormal lower limb bone morphology	375056	MIA3	OMIM:619269
HP:0040069	Abnormal lower limb bone morphology	57178	ZMIZ1	OMIM:618659
HP:0040069	Abnormal lower limb bone morphology	4613	MYCN	OMIM:164280
HP:0040069	Abnormal lower limb bone morphology	2697	GJA1	ORPHA:93404
HP:0040069	Abnormal lower limb bone morphology	2690	GHR	ORPHA:633
HP:0040069	Abnormal lower limb bone morphology	6775	STAT4	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	3560	IL2RB	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	79722	ANKRD55	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	26191	PTPN22	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	919	CD247	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	3559	IL2RA	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	5771	PTPN2	ORPHA:85408
HP:0040069	Abnormal lower limb bone morphology	23265	EXOC7	OMIM:619072
HP:0040069	Abnormal lower limb bone morphology	55906	ZC4H2	OMIM:301041
HP:0040069	Abnormal lower limb bone morphology	80347	COASY	OMIM:618266
HP:0040069	Abnormal lower limb bone morphology	54809	SAMD9	OMIM:617053
HP:0040069	Abnormal lower limb bone morphology	285489	DOK7	OMIM:618389
HP:0040069	Abnormal lower limb bone morphology	8294	H4C9	OMIM:619951
HP:0040069	Abnormal lower limb bone morphology	4593	MUSK	OMIM:208150
HP:0040069	Abnormal lower limb bone morphology	10526	IPO8	OMIM:619472
HP:0040069	Abnormal lower limb bone morphology	29895	MYL11	OMIM:619110
HP:0040069	Abnormal lower limb bone morphology	6659	SOX4	OMIM:618506
HP:0040069	Abnormal lower limb bone morphology	1861	TOR1A	OMIM:618947
HP:0040069	Abnormal lower limb bone morphology	9820	CUL7	ORPHA:2616
HP:0040069	Abnormal lower limb bone morphology	23363	OBSL1	ORPHA:2616
HP:0040069	Abnormal lower limb bone morphology	83987	CCDC8	ORPHA:2616
HP:0040069	Abnormal lower limb bone morphology	9894	TELO2	ORPHA:488642
HP:0040069	Abnormal lower limb bone morphology	55627	SMPD4	OMIM:618622
HP:0040069	Abnormal lower limb bone morphology	7486	WRN	ORPHA:902
HP:0040069	Abnormal lower limb bone morphology	55593	OTUD5	OMIM:301056
HP:0040069	Abnormal lower limb bone morphology	51611	DPH5	OMIM:620070
HP:0040069	Abnormal lower limb bone morphology	55315	SLC29A3	OMIM:602782
HP:0040069	Abnormal lower limb bone morphology	4927	NUP88	OMIM:618393
HP:0040069	Abnormal lower limb bone morphology	4094	MAF	ORPHA:1272
HP:0040069	Abnormal lower limb bone morphology	8314	BAP1	OMIM:619762
HP:0040069	Abnormal lower limb bone morphology	2073	ERCC5	OMIM:616570
HP:0040069	Abnormal lower limb bone morphology	10436	EMG1	ORPHA:1270
HP:0040069	Abnormal lower limb bone morphology	10436	EMG1	OMIM:211180
HP:0040069	Abnormal lower limb bone morphology	5649	RELN	ORPHA:89844
HP:0040069	Abnormal lower limb bone morphology	10300	KATNB1	ORPHA:89844
HP:0040069	Abnormal lower limb bone morphology	54820	NDE1	ORPHA:89844
HP:0040069	Abnormal lower limb bone morphology	113179	ADAT3	ORPHA:363528
HP:0040069	Abnormal lower limb bone morphology	9928	KIF14	OMIM:616258
HP:0040069	Abnormal lower limb bone morphology	9373	PLAA	ORPHA:521426
HP:0040069	Abnormal lower limb bone morphology	9373	PLAA	OMIM:617527
HP:0040069	Abnormal lower limb bone morphology	16	AARS1	OMIM:616339
HP:0040069	Abnormal lower limb bone morphology	2068	ERCC2	OMIM:610756
HP:0040069	Abnormal lower limb bone morphology	2067	ERCC1	OMIM:610758
HP:0040069	Abnormal lower limb bone morphology	8241	RBM10	ORPHA:2886
HP:0040069	Abnormal lower limb bone morphology	8241	RBM10	OMIM:311900
HP:0040069	Abnormal lower limb bone morphology	8218	CLTCL1	ORPHA:453510
HP:0040069	Abnormal lower limb bone morphology	2733	GLE1	OMIM:611890
HP:0040069	Abnormal lower limb bone morphology	23511	NUP188	OMIM:618804
HP:0040069	Abnormal lower limb bone morphology	4604	MYBPC1	ORPHA:1146
HP:0040069	Abnormal lower limb bone morphology	4604	MYBPC1	OMIM:614335
HP:0040069	Abnormal lower limb bone morphology	55681	SCYL2	ORPHA:1143
HP:0040069	Abnormal lower limb bone morphology	55681	SCYL2	OMIM:618766
HP:0040069	Abnormal lower limb bone morphology	84570	COL25A1	ORPHA:1143
HP:0040069	Abnormal lower limb bone morphology	57222	ERGIC1	ORPHA:1143
HP:0040069	Abnormal lower limb bone morphology	10269	ZMPSTE24	OMIM:275210
HP:0040069	Abnormal lower limb bone morphology	91647	ATPAF2	OMIM:604273
HP:0040069	Abnormal lower limb bone morphology	22827	PUF60	ORPHA:508488
HP:0040069	Abnormal lower limb bone morphology	29968	PSAT1	OMIM:616038
HP:0040069	Abnormal lower limb bone morphology	54551	MAGEL2	OMIM:615547
HP:0040069	Abnormal lower limb bone morphology	4000	LMNA	ORPHA:79474
HP:0040069	Abnormal lower limb bone morphology	3981	LIG4	ORPHA:235
HP:0040069	Abnormal lower limb bone morphology	54888	NSUN2	ORPHA:235
HP:0040069	Abnormal lower limb bone morphology	9158	FIBP	ORPHA:500095
HP:0040069	Abnormal lower limb bone morphology	5828	PEX2	OMIM:614866
HP:0040069	Abnormal lower limb bone morphology	2990	GUSB	ORPHA:584
HP:0040069	Abnormal lower limb bone morphology	2990	GUSB	OMIM:253220
HP:0040069	Abnormal lower limb bone morphology	26137	ZBTB20	OMIM:259050
HP:0040069	Abnormal lower limb bone morphology	80232	WDR26	ORPHA:513456
HP:0040069	Abnormal lower limb bone morphology	1718	DHCR24	ORPHA:35107
HP:0040069	Abnormal lower limb bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0040069	Abnormal lower limb bone morphology	5594	MAPK1	OMIM:619087
HP:0040069	Abnormal lower limb bone morphology	89910	UBE3B	OMIM:244450
HP:0040069	Abnormal lower limb bone morphology	2201	FBN2	OMIM:121050
HP:0040069	Abnormal lower limb bone morphology	7140	TNNT3	OMIM:618435
HP:0040069	Abnormal lower limb bone morphology	5189	PEX1	OMIM:214100
HP:0040069	Abnormal lower limb bone morphology	4626	MYH8	OMIM:158300
HP:0040069	Abnormal lower limb bone morphology	6497	SKI	OMIM:182212
HP:0040069	Abnormal lower limb bone morphology	10381	TUBB3	ORPHA:300570
HP:0040069	Abnormal lower limb bone morphology	1717	DHCR7	OMIM:270400
HP:0040069	Abnormal lower limb bone morphology	26229	B3GAT3	OMIM:245600
HP:0040069	Abnormal lower limb bone morphology	84823	LMNB2	OMIM:619180
HP:0040069	Abnormal lower limb bone morphology	63895	PIEZO2	ORPHA:2461
HP:0040069	Abnormal lower limb bone morphology	26160	IFT172	OMIM:619471
HP:0040069	Abnormal lower limb bone morphology	65250	CPLANE1	OMIM:277170
HP:0040069	Abnormal lower limb bone morphology	6608	SMO	OMIM:601707
HP:0040069	Abnormal lower limb bone morphology	374654	KIF7	OMIM:614120
HP:0040069	Abnormal lower limb bone morphology	374654	KIF7	OMIM:200990
HP:0040069	Abnormal lower limb bone morphology	53834	FGFRL1	OMIM:194190
HP:0040069	Abnormal lower limb bone morphology	1487	CTBP1	OMIM:194190
HP:0040069	Abnormal lower limb bone morphology	3954	LETM1	OMIM:194190
HP:0040069	Abnormal lower limb bone morphology	7468	NSD2	OMIM:194190
HP:0040069	Abnormal lower limb bone morphology	10815	CPLX1	OMIM:194190
HP:0040069	Abnormal lower limb bone morphology	1281	COL3A1	OMIM:130050
HP:0040069	Abnormal lower limb bone morphology	6335	SCN9A	ORPHA:970
HP:0040069	Abnormal lower limb bone morphology	6335	SCN9A	OMIM:201300
HP:0040069	Abnormal lower limb bone morphology	65125	WNK1	ORPHA:970
HP:0040069	Abnormal lower limb bone morphology	65125	WNK1	OMIM:201300
HP:0040069	Abnormal lower limb bone morphology	54463	RETREG1	ORPHA:970
HP:0040069	Abnormal lower limb bone morphology	54463	RETREG1	OMIM:201300
HP:0040069	Abnormal lower limb bone morphology	547	KIF1A	ORPHA:970
HP:0040069	Abnormal lower limb bone morphology	547	KIF1A	OMIM:201300
HP:0040069	Abnormal lower limb bone morphology	4853	NOTCH2	OMIM:102500
HP:0040069	Abnormal lower limb bone morphology	7169	TPM2	OMIM:108120
HP:0040069	Abnormal lower limb bone morphology	9839	ZEB2	ORPHA:261537
HP:0040069	Abnormal lower limb bone morphology	9839	ZEB2	ORPHA:261552
HP:0040069	Abnormal lower limb bone morphology	284058	KANSL1	ORPHA:363965
HP:0040069	Abnormal lower limb bone morphology	284058	KANSL1	ORPHA:363958
HP:0040069	Abnormal lower limb bone morphology	3236	HOXD10	OMIM:192950
HP:0040069	Abnormal lower limb bone morphology	259232	NALCN	OMIM:616266
HP:0040069	Abnormal lower limb bone morphology	9427	ECEL1	OMIM:615065
HP:0040069	Abnormal lower limb bone morphology	92949	ADAMTSL1	ORPHA:521445
HP:0040069	Abnormal lower limb bone morphology	7136	TNNI2	OMIM:601680
HP:0040069	Abnormal lower limb bone morphology	10159	ATP6AP2	ORPHA:93952
HP:0040069	Abnormal lower limb bone morphology	26227	PHGDH	OMIM:256520
HP:0040069	Abnormal lower limb bone morphology	64840	PORCN	OMIM:305600
HP:0040069	Abnormal lower limb bone morphology	7480	WNT10B	OMIM:225300
HP:0040069	Abnormal lower limb bone morphology	54567	DLL4	OMIM:616589
HP:0040069	Abnormal lower limb bone morphology	1749	DLX5	OMIM:183600
HP:0040069	Abnormal lower limb bone morphology	4038	LRP4	ORPHA:3258
HP:0040069	Abnormal lower limb bone morphology	324	APC	ORPHA:3258
HP:0040069	Abnormal lower limb bone morphology	2132	EXT2	ORPHA:321
HP:0040069	Abnormal lower limb bone morphology	2316	FLNA	ORPHA:90650
HP:0040069	Abnormal lower limb bone morphology	55012	PPP2R3C	OMIM:618419
HP:0040069	Abnormal lower limb bone morphology	5281	PIGF	OMIM:619356
HP:0040069	Abnormal lower limb bone morphology	3756	KCNH1	OMIM:135500
HP:0040069	Abnormal lower limb bone morphology	113246	C12orf57	OMIM:218340
HP:0040069	Abnormal lower limb bone morphology	8626	TP63	OMIM:605289
HP:0040069	Abnormal lower limb bone morphology	4897	NRCAM	OMIM:619833
HP:0040069	Abnormal lower limb bone morphology	347734	SLC35B2	OMIM:620269
HP:0040069	Abnormal lower limb bone morphology	546	ATRX	OMIM:301040
HP:0040069	Abnormal lower limb bone morphology	613	BCR	ORPHA:261330
HP:0040069	Abnormal lower limb bone morphology	1399	CRKL	ORPHA:261330
HP:0040069	Abnormal lower limb bone morphology	79158	GNPTAB	OMIM:252500
HP:0040069	Abnormal lower limb bone morphology	6197	RPS6KA3	OMIM:303600
HP:0040069	Abnormal lower limb bone morphology	3190	HNRNPK	OMIM:616580
HP:0040069	Abnormal lower limb bone morphology	8726	EED	OMIM:617561
HP:0040069	Abnormal lower limb bone morphology	4247	MGAT2	OMIM:212066
HP:0040069	Abnormal lower limb bone morphology	11285	B4GALT7	OMIM:130070
HP:0040069	Abnormal lower limb bone morphology	2517	FUCA1	OMIM:230000
HP:0040069	Abnormal lower limb bone morphology	2588	GALNS	OMIM:253000
HP:0040069	Abnormal lower limb bone morphology	10236	HNRNPR	OMIM:620073
HP:0040069	Abnormal lower limb bone morphology	6558	SLC12A2	OMIM:619080
HP:0040069	Abnormal lower limb bone morphology	3187	HNRNPH1	OMIM:620083
HP:0040069	Abnormal lower limb bone morphology	2961	GTF2E2	OMIM:616943
HP:0040069	Abnormal lower limb bone morphology	865	CBFB	OMIM:620099
HP:0040069	Abnormal lower limb bone morphology	4322	MMP13	OMIM:602111
HP:0040069	Abnormal lower limb bone morphology	85301	COL27A1	OMIM:615155
HP:0040069	Abnormal lower limb bone morphology	579	NKX3-2	OMIM:613330
HP:0040069	Abnormal lower limb bone morphology	6023	RMRP	OMIM:250250
HP:0040069	Abnormal lower limb bone morphology	5130	PCYT1A	ORPHA:85167
HP:0040069	Abnormal lower limb bone morphology	5130	PCYT1A	OMIM:608940
HP:0040069	Abnormal lower limb bone morphology	5176	SERPINF1	OMIM:613982
HP:0040069	Abnormal lower limb bone morphology	60681	FKBP10	OMIM:259450
HP:0040069	Abnormal lower limb bone morphology	60681	FKBP10	OMIM:610968
HP:0040069	Abnormal lower limb bone morphology	1298	COL9A2	ORPHA:166002
HP:0040069	Abnormal lower limb bone morphology	1299	COL9A3	ORPHA:166002
HP:0040069	Abnormal lower limb bone morphology	4784	NFIX	OMIM:602535
HP:0040069	Abnormal lower limb bone morphology	11014	KDELR2	OMIM:619131
HP:0040069	Abnormal lower limb bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0040069	Abnormal lower limb bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0040069	Abnormal lower limb bone morphology	10491	CRTAP	OMIM:610682
HP:0040069	Abnormal lower limb bone morphology	6137	RPL13	OMIM:618728
HP:0040069	Abnormal lower limb bone morphology	3339	HSPG2	OMIM:255800
HP:0040069	Abnormal lower limb bone morphology	3339	HSPG2	ORPHA:800
HP:0040069	Abnormal lower limb bone morphology	1954	MEGF8	OMIM:614976
HP:0040069	Abnormal lower limb bone morphology	23592	LEMD3	ORPHA:166119
HP:0040069	Abnormal lower limb bone morphology	1593	CYP27A1	ORPHA:909
HP:0040069	Abnormal lower limb bone morphology	4054	LTBP3	ORPHA:969
HP:0040069	Abnormal lower limb bone morphology	672	BRCA1	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	10459	MAD2L2	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	7516	XRCC2	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	29089	UBE2T	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	675	BRCA2	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	55120	FANCL	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2177	FANCD2	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2175	FANCA	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2187	FANCB	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2176	FANCC	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2178	FANCE	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2188	FANCF	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2189	FANCG	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	5888	RAD51	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	5889	RAD51C	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	55159	RFWD3	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	83990	BRIP1	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	57697	FANCM	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	79728	PALB2	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	84464	SLX4	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	2072	ERCC4	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	55215	FANCI	ORPHA:84
HP:0040069	Abnormal lower limb bone morphology	6916	TBXAS1	ORPHA:1802
HP:0040069	Abnormal lower limb bone morphology	7040	TGFB1	ORPHA:1328
HP:0040069	Abnormal lower limb bone morphology	2717	GLA	ORPHA:324
HP:0040069	Abnormal lower limb bone morphology	2778	GNAS	ORPHA:562
HP:0040069	Abnormal lower limb bone morphology	5352	PLOD2	OMIM:609220
HP:0040069	Abnormal lower limb bone morphology	91179	SCARF2	OMIM:600920
HP:0040069	Abnormal lower limb bone morphology	25885	POLR1A	OMIM:616462
HP:0040069	Abnormal lower limb bone morphology	55603	TENT5A	OMIM:617952
HP:0040069	Abnormal lower limb bone morphology	284086	NEK8	OMIM:615415
HP:0040069	Abnormal lower limb bone morphology	166929	SGMS2	OMIM:126550
HP:0040069	Abnormal lower limb bone morphology	55151	TMEM38B	OMIM:615066
HP:0040069	Abnormal lower limb bone morphology	25871	NEPRO	OMIM:618853
HP:0040069	Abnormal lower limb bone morphology	5159	PDGFRB	OMIM:601812
HP:0040069	Abnormal lower limb bone morphology	92344	GORAB	OMIM:231070
HP:0040069	Abnormal lower limb bone morphology	3248	HPGD	ORPHA:1525
HP:0040069	Abnormal lower limb bone morphology	139285	AMER1	OMIM:300373
HP:0040069	Abnormal lower limb bone morphology	79659	DYNC2H1	OMIM:613091
HP:0040069	Abnormal lower limb bone morphology	3899	AFF3	OMIM:619297
HP:0040069	Abnormal lower limb bone morphology	3636	INPPL1	ORPHA:3144
HP:0040069	Abnormal lower limb bone morphology	23169	SLC35D1	ORPHA:3144
HP:0040069	Abnormal lower limb bone morphology	55764	IFT122	OMIM:218330
HP:0040069	Abnormal lower limb bone morphology	10262	SF3B4	ORPHA:1788
HP:0040069	Abnormal lower limb bone morphology	5745	PTH1R	ORPHA:79106
HP:0040069	Abnormal lower limb bone morphology	5745	PTH1R	OMIM:600002
HP:0040069	Abnormal lower limb bone morphology	27125	AFF4	ORPHA:444077
HP:0040069	Abnormal lower limb bone morphology	4233	MET	OMIM:607278
HP:0040069	Abnormal lower limb bone morphology	10804	GJB6	ORPHA:477
HP:0040069	Abnormal lower limb bone morphology	2706	GJB2	ORPHA:477
HP:0040069	Abnormal lower limb bone morphology	4010	LMX1B	ORPHA:2614
HP:0040069	Abnormal lower limb bone morphology	4010	LMX1B	OMIM:161200
HP:0040069	Abnormal lower limb bone morphology	4010	LMX1B	ORPHA:495818
HP:0040069	Abnormal lower limb bone morphology	9401	RECQL4	ORPHA:221016
HP:0040069	Abnormal lower limb bone morphology	9401	RECQL4	OMIM:218600
HP:0040069	Abnormal lower limb bone morphology	5307	PITX1	OMIM:119800
HP:0040069	Abnormal lower limb bone morphology	55148	UBR7	OMIM:619189
HP:0040069	Abnormal lower limb bone morphology	6812	STXBP1	ORPHA:495818
HP:0040069	Abnormal lower limb bone morphology	6662	SOX9	OMIM:114290
HP:0040069	Abnormal lower limb bone morphology	23594	ORC6	OMIM:613803
HP:0040069	Abnormal lower limb bone morphology	64682	ANAPC1	ORPHA:221008
HP:0040069	Abnormal lower limb bone morphology	4921	DDR2	OMIM:271665
HP:0040069	Abnormal lower limb bone morphology	54187	NANS	OMIM:610442
HP:0040069	Abnormal lower limb bone morphology	633	BGN	OMIM:300106
HP:0040069	Abnormal lower limb bone morphology	8985	PLOD3	OMIM:612394
HP:0040069	Abnormal lower limb bone morphology	9949	AMMECR1	OMIM:300990
HP:0040069	Abnormal lower limb bone morphology	10588	MTHFS	OMIM:618367
HP:0040069	Abnormal lower limb bone morphology	55503	TRPV6	OMIM:618188
HP:0040069	Abnormal lower limb bone morphology	815	CAMK2A	OMIM:617798
HP:0040069	Abnormal lower limb bone morphology	11128	POLR3A	OMIM:264090
HP:0040069	Abnormal lower limb bone morphology	11128	POLR3A	ORPHA:3455
HP:0040069	Abnormal lower limb bone morphology	8540	AGPS	OMIM:600121
HP:0040069	Abnormal lower limb bone morphology	8802	SUCLG1	ORPHA:17
HP:0040069	Abnormal lower limb bone morphology	202018	TAPT1	OMIM:616897
HP:0040069	Abnormal lower limb bone morphology	871	SERPINH1	OMIM:613848
HP:0040069	Abnormal lower limb bone morphology	4041	LRP5	ORPHA:2788
HP:0040069	Abnormal lower limb bone morphology	64131	XYLT1	ORPHA:1425
HP:0040069	Abnormal lower limb bone morphology	124583	CANT1	ORPHA:1425
HP:0040069	Abnormal lower limb bone morphology	55790	CSGALNACT1	ORPHA:1425
HP:0040069	Abnormal lower limb bone morphology	3549	IHH	ORPHA:63446
HP:0040069	Abnormal lower limb bone morphology	6473	SHOX	OMIM:127300
HP:0040069	Abnormal lower limb bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0040069	Abnormal lower limb bone morphology	54808	DYM	ORPHA:239
HP:0040069	Abnormal lower limb bone morphology	3835	KIF22	ORPHA:93360
HP:0040069	Abnormal lower limb bone morphology	3835	KIF22	OMIM:603546
HP:0040069	Abnormal lower limb bone morphology	84572	GNPTG	OMIM:252605
HP:0040069	Abnormal lower limb bone morphology	176	ACAN	OMIM:608361
HP:0040069	Abnormal lower limb bone morphology	79848	CSPP1	ORPHA:397715
HP:0040069	Abnormal lower limb bone morphology	9786	KIAA0586	ORPHA:397715
HP:0040069	Abnormal lower limb bone morphology	1300	COL10A1	ORPHA:174
HP:0040069	Abnormal lower limb bone morphology	755	CFAP410	OMIM:602271
HP:0040069	Abnormal lower limb bone morphology	51119	SBDS	OMIM:260400
HP:0040069	Abnormal lower limb bone morphology	134218	DNAJC21	OMIM:260400
HP:0040069	Abnormal lower limb bone morphology	6729	SRP54	OMIM:260400
HP:0040069	Abnormal lower limb bone morphology	2260	FGFR1	OMIM:101600
HP:0040069	Abnormal lower limb bone morphology	2263	FGFR2	OMIM:101600
HP:0040069	Abnormal lower limb bone morphology	2261	FGFR3	OMIM:602849
HP:0040069	Abnormal lower limb bone morphology	1302	COL11A2	OMIM:215150
HP:0040069	Abnormal lower limb bone morphology	3094	HINT1	ORPHA:324442
HP:0040069	Abnormal lower limb bone morphology	2879	GPX4	OMIM:250220
HP:0040069	Abnormal lower limb bone morphology	9759	HDAC4	OMIM:600430
HP:0040069	Abnormal lower limb bone morphology	9578	CDC42BPB	OMIM:619841
HP:0040069	Abnormal lower limb bone morphology	5191	PEX7	OMIM:266500
HP:0040069	Abnormal lower limb bone morphology	5264	PHYH	OMIM:266500
HP:0040069	Abnormal lower limb bone morphology	94005	PIGS	OMIM:618143
HP:0040069	Abnormal lower limb bone morphology	341208	HEPHL1	OMIM:261990
HP:0040069	Abnormal lower limb bone morphology	54585	LZTFL1	OMIM:615994
HP:0040069	Abnormal lower limb bone morphology	55628	ZNF407	OMIM:619557
HP:0040069	Abnormal lower limb bone morphology	2146	EZH2	OMIM:277590
HP:0040069	Abnormal lower limb bone morphology	79633	FAT4	OMIM:615546
HP:0040069	Abnormal lower limb bone morphology	8642	DCHS1	OMIM:601390
HP:0040069	Abnormal lower limb bone morphology	54496	PRMT7	ORPHA:464288
HP:0040069	Abnormal lower limb bone morphology	6925	TCF4	OMIM:610954
HP:0040069	Abnormal lower limb bone morphology	9842	PLEKHM1	OMIM:611497
HP:0040069	Abnormal lower limb bone morphology	9842	PLEKHM1	ORPHA:210110
HP:0040069	Abnormal lower limb bone morphology	56172	ANKH	OMIM:123000
HP:0040069	Abnormal lower limb bone morphology	1186	CLCN7	ORPHA:210110
HP:0040069	Abnormal lower limb bone morphology	2629	GBA1	OMIM:230800
HP:0040069	Abnormal lower limb bone morphology	1436	CSF1R	OMIM:618476
HP:0040069	Abnormal lower limb bone morphology	5660	PSAP	OMIM:610539
HP:0040069	Abnormal lower limb bone morphology	4982	TNFRSF11B	OMIM:239000
HP:0040069	Abnormal lower limb bone morphology	1758	DMP1	ORPHA:289176
HP:0040069	Abnormal lower limb bone morphology	5167	ENPP1	ORPHA:289176
HP:0040069	Abnormal lower limb bone morphology	7476	WNT7A	OMIM:276820
HP:0040069	Abnormal lower limb bone morphology	7476	WNT7A	OMIM:228930
HP:0040069	Abnormal lower limb bone morphology	374969	SVBP	OMIM:618569
HP:0040069	Abnormal lower limb bone morphology	1327	COX4I1	OMIM:619060
HP:0040069	Abnormal lower limb bone morphology	8936	WASF1	OMIM:618707
HP:0040069	Abnormal lower limb bone morphology	8200	GDF5	OMIM:200700
HP:0040069	Abnormal lower limb bone morphology	8200	GDF5	OMIM:201250
HP:0040069	Abnormal lower limb bone morphology	8200	GDF5	ORPHA:2098
HP:0040069	Abnormal lower limb bone morphology	153241	CEP120	OMIM:616300
HP:0040069	Abnormal lower limb bone morphology	10082	GPC6	OMIM:258315
HP:0040069	Abnormal lower limb bone morphology	7355	SLC35A2	ORPHA:356961
HP:0040069	Abnormal lower limb bone morphology	658	BMPR1B	ORPHA:2098
HP:0040069	Abnormal lower limb bone morphology	64093	SMOC1	ORPHA:1106
HP:0040069	Abnormal lower limb bone morphology	79087	ALG12	OMIM:607143
HP:0040069	Abnormal lower limb bone morphology	2317	FLNB	ORPHA:56305
HP:0040069	Abnormal lower limb bone morphology	3977	LIFR	OMIM:601559
HP:0040069	Abnormal lower limb bone morphology	9775	EIF4A3	OMIM:268305
HP:0040069	Abnormal lower limb bone morphology	27152	INTU	OMIM:617925
HP:0040069	Abnormal lower limb bone morphology	3911	LAMA5	OMIM:620076
HP:0040069	Abnormal lower limb bone morphology	29980	DONSON	OMIM:251230
HP:0040069	Abnormal lower limb bone morphology	538	ATP7A	ORPHA:198
HP:0040069	Abnormal lower limb bone morphology	55898	UNC45A	OMIM:619377
HP:0040069	Abnormal lower limb bone morphology	26277	TINF2	OMIM:613990
HP:0040069	Abnormal lower limb bone morphology	91754	NEK9	OMIM:614262
HP:0040069	Abnormal lower limb bone morphology	9652	SKIC3	OMIM:222470
HP:0040069	Abnormal lower limb bone morphology	1857	DVL3	ORPHA:3107
HP:0040069	Abnormal lower limb bone morphology	7474	WNT5A	ORPHA:3107
HP:0040069	Abnormal lower limb bone morphology	1855	DVL1	ORPHA:3107
HP:0040069	Abnormal lower limb bone morphology	2535	FZD2	ORPHA:3107
HP:0040069	Abnormal lower limb bone morphology	1387	CREBBP	ORPHA:353277
HP:0040069	Abnormal lower limb bone morphology	1387	CREBBP	ORPHA:353281
HP:0040069	Abnormal lower limb bone morphology	2335	FN1	ORPHA:93315
HP:0040069	Abnormal lower limb bone morphology	81031	SLC2A10	ORPHA:3342
HP:0040069	Abnormal lower limb bone morphology	9719	ADAMTSL2	ORPHA:1901
HP:0040069	Abnormal lower limb bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0040069	Abnormal lower limb bone morphology	4796	TONSL	ORPHA:93357
HP:0040069	Abnormal lower limb bone morphology	4148	MATN3	ORPHA:93311
HP:0040069	Abnormal lower limb bone morphology	2131	EXT1	ORPHA:502
HP:0040069	Abnormal lower limb bone morphology	7227	TRPS1	ORPHA:502
HP:0040069	Abnormal lower limb bone morphology	7227	TRPS1	OMIM:190350
HP:0040069	Abnormal lower limb bone morphology	7227	TRPS1	OMIM:190351
HP:0040069	Abnormal lower limb bone morphology	7227	TRPS1	ORPHA:77258
HP:0040069	Abnormal lower limb bone morphology	55325	UFSP2	OMIM:142669
HP:0040069	Abnormal lower limb bone morphology	11277	TREX1	ORPHA:247691
HP:0040069	Abnormal lower limb bone morphology	1311	COMP	OMIM:132400
HP:0040069	Abnormal lower limb bone morphology	1311	COMP	ORPHA:93308
HP:0040069	Abnormal lower limb bone morphology	2033	EP300	ORPHA:353284
HP:0040069	Abnormal lower limb bone morphology	10847	SRCAP	ORPHA:2044
HP:0040069	Abnormal lower limb bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0040069	Abnormal lower limb bone morphology	64374	SIL1	ORPHA:559
HP:0040069	Abnormal lower limb bone morphology	51763	INPP5K	ORPHA:559
HP:0040069	Abnormal lower limb bone morphology	1278	COL1A2	ORPHA:1899
HP:0040069	Abnormal lower limb bone morphology	1277	COL1A1	ORPHA:1899
HP:0040069	Abnormal lower limb bone morphology	727857	BHLHA9	ORPHA:3329
HP:0040069	Abnormal lower limb bone morphology	727857	BHLHA9	ORPHA:1986
HP:0040069	Abnormal lower limb bone morphology	57688	ZSWIM6	ORPHA:1827
HP:0040069	Abnormal lower limb bone morphology	64327	LMBR1	ORPHA:988
HP:0040069	Abnormal lower limb bone morphology	6469	SHH	ORPHA:988
HP:0040069	Abnormal lower limb bone morphology	26123	TCTN3	ORPHA:2753
HP:0040069	Abnormal lower limb bone morphology	4750	NEK1	ORPHA:2751
HP:0040069	Abnormal lower limb bone morphology	4750	NEK1	OMIM:263520
HP:0040069	Abnormal lower limb bone morphology	2737	GLI3	ORPHA:93322
HP:0040069	Abnormal lower limb bone morphology	5447	POR	ORPHA:95699
HP:0040069	Abnormal lower limb bone morphology	4323	MMP14	ORPHA:371428
HP:0040069	Abnormal lower limb bone morphology	4323	MMP14	OMIM:277950
HP:0040069	Abnormal lower limb bone morphology	249	ALPL	OMIM:241500
HP:0040069	Abnormal lower limb bone morphology	23394	ADNP	OMIM:615873
HP:0040069	Abnormal lower limb bone morphology	5479	PPIB	OMIM:259440
HP:0040069	Abnormal lower limb bone morphology	2767	GNA11	ORPHA:1556
HP:0040069	Abnormal lower limb bone morphology	151188	ARL6IP6	ORPHA:1556
HP:0040069	Abnormal lower limb bone morphology	51025	PAM16	OMIM:613320
HP:0040069	Abnormal lower limb bone morphology	649	BMP1	OMIM:614856
HP:0040069	Abnormal lower limb bone morphology	26040	SETBP1	OMIM:269150
HP:0040069	Abnormal lower limb bone morphology	1297	COL9A1	OMIM:614135
HP:0040069	Abnormal lower limb bone morphology	9131	AIFM1	OMIM:300232
HP:0040069	Abnormal lower limb bone morphology	91252	SLC39A13	ORPHA:157965
HP:0040069	Abnormal lower limb bone morphology	91252	SLC39A13	OMIM:612350
HP:0040069	Abnormal lower limb bone morphology	372	ARCN1	OMIM:617164
HP:0040069	Abnormal lower limb bone morphology	8838	CCN6	ORPHA:1159
HP:0040069	Abnormal lower limb bone morphology	79639	TMEM53	OMIM:619727
HP:0040069	Abnormal lower limb bone morphology	9382	COG1	OMIM:611209
HP:0040069	Abnormal lower limb bone morphology	5251	PHEX	OMIM:307800
HP:0040069	Abnormal lower limb bone morphology	5251	PHEX	ORPHA:89936
HP:0040069	Abnormal lower limb bone morphology	545	ATR	OMIM:210600
HP:0040069	Abnormal lower limb bone morphology	25839	COG4	OMIM:618150
HP:0040069	Abnormal lower limb bone morphology	1146	CHRNG	OMIM:265000
HP:0040069	Abnormal lower limb bone morphology	4998	ORC1	OMIM:224690
HP:0040069	Abnormal lower limb bone morphology	4998	ORC1	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	23522	KAT6B	OMIM:606170
HP:0040069	Abnormal lower limb bone morphology	23522	KAT6B	ORPHA:85201
HP:0040069	Abnormal lower limb bone morphology	9939	RBM8A	OMIM:274000
HP:0040069	Abnormal lower limb bone morphology	157570	ESCO2	ORPHA:3103
HP:0040069	Abnormal lower limb bone morphology	81620	CDT1	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	81620	CDT1	OMIM:613804
HP:0040069	Abnormal lower limb bone morphology	5000	ORC4	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	5000	ORC4	OMIM:613800
HP:0040069	Abnormal lower limb bone morphology	8318	CDC45	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	990	CDC6	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	990	CDC6	OMIM:613805
HP:0040069	Abnormal lower limb bone morphology	51053	GMNN	ORPHA:2554
HP:0040069	Abnormal lower limb bone morphology	51053	GMNN	OMIM:616835
HP:0040069	Abnormal lower limb bone morphology	5979	RET	OMIM:162300
HP:0040069	Abnormal lower limb bone morphology	2972	BRF1	OMIM:616202
HP:0040069	Abnormal lower limb bone morphology	5116	PCNT	OMIM:210720
HP:0040069	Abnormal lower limb bone morphology	79631	EFL1	ORPHA:811
HP:0040069	Abnormal lower limb bone morphology	9321	TRIP11	OMIM:200600
HP:0040069	Abnormal lower limb bone morphology	5921	RASA1	ORPHA:90307
HP:0040069	Abnormal lower limb bone morphology	7157	TP53	ORPHA:668
HP:0040069	Abnormal lower limb bone morphology	5925	RB1	ORPHA:668
HP:0040069	Abnormal lower limb bone morphology	11200	CHEK2	ORPHA:668
HP:0040069	Abnormal lower limb bone morphology	1280	COL2A1	ORPHA:166011
HP:0040069	Abnormal lower limb bone morphology	64135	IFIH1	OMIM:182250
HP:0040069	Abnormal lower limb bone morphology	3209	HOXA13	OMIM:140000
HP:0040069	Abnormal lower limb bone morphology	2074	ERCC6	OMIM:214150
HP:0040069	Abnormal lower limb bone morphology	10682	EBP	OMIM:302960
HP:0040069	Abnormal lower limb bone morphology	9451	EIF2AK3	OMIM:226980
HP:0040069	Abnormal lower limb bone morphology	3032	HADHB	ORPHA:746
HP:0040069	Abnormal lower limb bone morphology	3030	HADHA	ORPHA:746
HP:0040069	Abnormal lower limb bone morphology	6857	SYT1	ORPHA:522077
HP:0040069	Abnormal lower limb bone morphology	165	AEBP1	ORPHA:536532
HP:0040069	Abnormal lower limb bone morphology	2200	FBN1	OMIM:154700
HP:0040069	Abnormal lower limb bone morphology	10013	HDAC6	ORPHA:163966
HP:0040069	Abnormal lower limb bone morphology	22856	CHSY1	ORPHA:363417
HP:0040069	Abnormal lower limb bone morphology	22856	CHSY1	OMIM:605282
HP:0040069	Abnormal lower limb bone morphology	392255	GDF6	OMIM:617898
HP:0040069	Abnormal lower limb bone morphology	4621	MYH3	OMIM:618469
HP:0040069	Abnormal lower limb bone morphology	4621	MYH3	OMIM:178110
HP:0040069	Abnormal lower limb bone morphology	4621	MYH3	ORPHA:1147
HP:0040069	Abnormal lower limb bone morphology	8195	MKKS	ORPHA:2473
HP:0040069	Abnormal lower limb bone morphology	8481	OFD1	ORPHA:2750
HP:0040069	Abnormal lower limb bone morphology	6885	MAP3K7	OMIM:157800
HP:0040069	Abnormal lower limb bone morphology	2192	FBLN1	OMIM:608180
HP:0040069	Abnormal lower limb bone morphology	60	ACTB	ORPHA:79107
HP:0040069	Abnormal lower limb bone morphology	60	ACTB	OMIM:607371
HP:0040069	Abnormal lower limb bone morphology	5297	PI4KA	OMIM:616531
HP:0040069	Abnormal lower limb bone morphology	64175	P3H1	OMIM:610915
HP:0040069	Abnormal lower limb bone morphology	9496	TBX4	OMIM:147891
HP:0040069	Abnormal lower limb bone morphology	3459	IFNGR1	OMIM:209950
HP:0040069	Abnormal lower limb bone morphology	1836	SLC26A2	OMIM:226900
HP:0040069	Abnormal lower limb bone morphology	3425	IDUA	OMIM:607014
HP:0040069	Abnormal lower limb bone morphology	10940	POP1	OMIM:617396
HP:0040069	Abnormal lower limb bone morphology	26146	TRAF3IP1	OMIM:616629
HP:0040069	Abnormal lower limb bone morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0040069	Abnormal lower limb bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0040069	Abnormal lower limb bone morphology	83452	RAB33B	OMIM:615222
HP:0040069	Abnormal lower limb bone morphology	59341	TRPV4	ORPHA:86820
HP:0040069	Abnormal lower limb bone morphology	89970	RSPRY1	ORPHA:457395
HP:0040069	Abnormal lower limb bone morphology	10216	PRG4	ORPHA:2848
HP:0040069	Abnormal lower limb bone morphology	2720	GLB1	ORPHA:79255
HP:0040069	Abnormal lower limb bone morphology	55699	IARS2	OMIM:616007
HP:0040069	Abnormal lower limb bone morphology	6913	TBX15	OMIM:260660
HP:0040069	Abnormal lower limb bone morphology	5626	PROP1	ORPHA:226307
HP:0040069	Abnormal lower limb bone morphology	89884	LHX4	ORPHA:226307
HP:0040069	Abnormal lower limb bone morphology	8022	LHX3	ORPHA:226307
HP:0040069	Abnormal lower limb bone morphology	5449	POU1F1	ORPHA:226307
HP:0040069	Abnormal lower limb bone morphology	8820	HESX1	ORPHA:226307
HP:0040069	Abnormal lower limb bone morphology	405753	DUOXA2	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	6528	SLC5A5	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	7038	TG	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	7173	TPO	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	389434	IYD	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	50506	DUOX2	ORPHA:95716
HP:0040069	Abnormal lower limb bone morphology	7253	TSHR	ORPHA:90673
HP:0040069	Abnormal lower limb bone morphology	7252	TSHB	ORPHA:90674
HP:0040069	Abnormal lower limb bone morphology	126792	B3GALT6	OMIM:271640
HP:0040069	Abnormal lower limb bone morphology	415	ARSL	ORPHA:79345
HP:0040069	Abnormal lower limb bone morphology	4763	NF1	OMIM:162200
HP:0040069	Abnormal lower limb bone morphology	1147	CHUK	OMIM:613630
HP:0040069	Abnormal lower limb bone morphology	9060	PAPSS2	OMIM:612847
HP:0040069	Abnormal lower limb bone morphology	1009	CDH11	ORPHA:1299
HP:0040069	Abnormal lower limb bone morphology	90	ACVR1	ORPHA:337
HP:0040069	Abnormal lower limb bone morphology	10664	CTCF	ORPHA:363611
HP:0040069	Abnormal lower limb bone morphology	1947	EFNB1	ORPHA:1520
HP:0040069	Abnormal lower limb bone morphology	64359	NXN	ORPHA:1507
HP:0040069	Abnormal lower limb bone morphology	4920	ROR2	ORPHA:1507
HP:0040069	Abnormal lower limb bone morphology	2626	GATA4	ORPHA:251071
HP:0040069	Abnormal lower limb bone morphology	285362	SUMF1	ORPHA:585
HP:0040069	Abnormal lower limb bone morphology	650	BMP2	ORPHA:261295
HP:0040069	Abnormal lower limb bone morphology	23314	SATB2	ORPHA:251019
HP:0040069	Abnormal lower limb bone morphology	57167	SALL4	ORPHA:959
HP:0040069	Abnormal lower limb bone morphology	6299	SALL1	ORPHA:857
HP:0040069	Abnormal lower limb bone morphology	51339	DACT1	ORPHA:857
HP:0040069	Abnormal lower limb bone morphology	3764	KCNJ8	ORPHA:1517
HP:0040069	Abnormal lower limb bone morphology	2239	GPC4	ORPHA:2662
HP:0040069	Abnormal lower limb bone morphology	2313	FLI1	ORPHA:2308
HP:0040069	Abnormal lower limb bone morphology	55697	VAC14	ORPHA:3472
HP:0040069	Abnormal lower limb bone morphology	79989	IFT56	OMIM:619534
HP:0040069	Abnormal lower limb bone morphology	10060	ABCC9	OMIM:239850
HP:0040069	Abnormal lower limb bone morphology	51776	MAP3K20	ORPHA:488232
HP:0040069	Abnormal lower limb bone morphology	5744	PTHLH	ORPHA:93387
HP:0040069	Abnormal lower limb bone morphology	3239	HOXD13	OMIM:113200
HP:0040069	Abnormal lower limb bone morphology	7291	TWIST1	OMIM:101400
HP:0040069	Abnormal lower limb bone morphology	57020	VPS35L	OMIM:619135
HP:0040069	Abnormal lower limb bone morphology	50515	CHST11	OMIM:618167
HP:0040069	Abnormal lower limb bone morphology	4256	MGP	OMIM:245150
HP:0040069	Abnormal lower limb bone morphology	7994	KAT6A	OMIM:616268
HP:0040069	Abnormal lower limb bone morphology	54872	PIGG	ORPHA:280
HP:0040069	Abnormal lower limb bone morphology	7469	NELFA	ORPHA:280
HP:0040069	Abnormal lower limb bone morphology	2702	GJA5	OMIM:612474
HP:0040069	Abnormal lower limb bone morphology	2703	GJA8	OMIM:612474
HP:0040069	Abnormal lower limb bone morphology	7021	TFAP2B	ORPHA:46627
HP:0040069	Abnormal lower limb bone morphology	9487	PIGL	ORPHA:3474
HP:0040069	Abnormal lower limb bone morphology	657	BMPR1A	ORPHA:79076
HP:0040069	Abnormal lower limb bone morphology	6792	CDKL5	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	3736	KCNA1	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	9091	PIGQ	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	2775	GNAO1	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	81603	TRIM8	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	2902	GRIN1	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	79751	SLC25A22	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	150094	SIK1	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	8573	CASK	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	23312	DMXL2	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	2917	GRM7	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	170302	ARX	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	11284	PNKP	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	51227	PIGP	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	4761	NEUROD2	ORPHA:1934
HP:0040069	Abnormal lower limb bone morphology	57492	ARID1B	OMIM:135900
HP:0040069	Abnormal lower limb bone morphology	54101	RIPK4	ORPHA:1234
HP:0040069	Abnormal lower limb bone morphology	9653	HS2ST1	OMIM:619194
HP:0040069	Abnormal lower limb bone morphology	81857	MED25	ORPHA:464738
HP:0040069	Abnormal lower limb bone morphology	9241	NOG	OMIM:611377
HP:0040069	Abnormal lower limb bone morphology	9241	NOG	OMIM:185800
HP:0040069	Abnormal lower limb bone morphology	51715	RAB23	OMIM:201000
HP:0040069	Abnormal lower limb bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0040069	Abnormal lower limb bone morphology	57465	TBC1D24	ORPHA:79500
HP:0040069	Abnormal lower limb bone morphology	55636	CHD7	OMIM:214800
HP:0040069	Abnormal lower limb bone morphology	55636	CHD7	ORPHA:138
HP:0040069	Abnormal lower limb bone morphology	9723	SEMA3E	ORPHA:138
HP:0040069	Abnormal lower limb bone morphology	1594	CYP27B1	OMIM:264700
HP:0040069	Abnormal lower limb bone morphology	1184	CLCN5	OMIM:300554
HP:0040069	Abnormal lower limb bone morphology	1184	CLCN5	OMIM:300009
HP:0040069	Abnormal lower limb bone morphology	142680	SLC34A3	OMIM:241530
HP:0040069	Abnormal lower limb bone morphology	7421	VDR	OMIM:277440
HP:0040069	Abnormal lower limb bone morphology	22858	CILK1	OMIM:612651
HP:0040069	Abnormal lower limb bone morphology	120227	CYP2R1	OMIM:600081
HP:0040069	Abnormal lower limb bone morphology	84892	POMGNT2	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	148789	B3GALNT2	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	79147	FKRP	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	29954	POMT2	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	9215	LARGE1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	1282	COL4A1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	729920	CRPPA	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	10329	RXYLT1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	1605	DAG1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	11041	B4GAT1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	10585	POMT1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	84197	POMK	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	2218	FKTN	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	55624	POMGNT1	ORPHA:899
HP:0040069	Abnormal lower limb bone morphology	5728	PTEN	ORPHA:744
HP:0040069	Abnormal lower limb bone morphology	207	AKT1	ORPHA:744
HP:0040069	Abnormal lower limb bone morphology	8260	NAA10	OMIM:300855
HP:0040069	Abnormal lower limb bone morphology	60561	RINT1	OMIM:618641
HP:0040069	Abnormal lower limb bone morphology	3313	HSPA9	OMIM:616854
HP:0040069	Abnormal lower limb bone morphology	5144	PDE4D	ORPHA:439822
HP:0040069	Abnormal lower limb bone morphology	4125	MAN2B1	ORPHA:309282
HP:0040069	Abnormal lower limb bone morphology	57003	CCDC47	OMIM:618268
HP:0040069	Abnormal lower limb bone morphology	84342	COG8	OMIM:611182
HP:0040069	Abnormal lower limb bone morphology	51506	UFC1	OMIM:618076
HP:0040069	Abnormal lower limb bone morphology	7043	TGFB3	OMIM:615582
HP:0040069	Abnormal lower limb bone morphology	51098	IFT52	OMIM:617102
HP:0040069	Abnormal lower limb bone morphology	3759	KCNJ2	OMIM:170390
HP:0040069	Abnormal lower limb bone morphology	157680	VPS13B	OMIM:216550
HP:0040069	Abnormal lower limb bone morphology	6595	SMARCA2	OMIM:601358
HP:0040069	Abnormal lower limb bone morphology	6736	SRY	ORPHA:1772
HP:0040069	Abnormal lower limb bone morphology	90417	KNSTRN	OMIM:613328
HP:0040069	Abnormal lower limb bone morphology	5293	PIK3CD	OMIM:613328
HP:0040069	Abnormal lower limb bone morphology	79971	WLS	OMIM:619648
HP:0040069	Abnormal lower limb bone morphology	50814	NSDHL	OMIM:308050
HP:0040069	Abnormal lower limb bone morphology	4851	NOTCH1	ORPHA:974
HP:0040069	Abnormal lower limb bone morphology	57514	ARHGAP31	ORPHA:974
HP:0040069	Abnormal lower limb bone morphology	57572	DOCK6	ORPHA:974
HP:0040069	Abnormal lower limb bone morphology	6926	TBX3	OMIM:181450
HP:0040069	Abnormal lower limb bone morphology	3516	RBPJ	OMIM:614814
HP:0040069	Abnormal lower limb bone morphology	1859	DYRK1A	ORPHA:268261
HP:0040069	Abnormal lower limb bone morphology	1301	COL11A1	OMIM:154780
HP:0040069	Abnormal lower limb bone morphology	388015	RTL1	ORPHA:96334
HP:0040069	Abnormal lower limb bone morphology	8788	DLK1	ORPHA:96334
HP:0040069	Abnormal lower limb bone morphology	55384	MEG3	ORPHA:96334
HP:0040069	Abnormal lower limb bone morphology	9896	FIG4	OMIM:216340
HP:0040069	Abnormal lower limb bone morphology	26128	KIFBP	OMIM:609460
HP:0040069	Abnormal lower limb bone morphology	8567	MADD	OMIM:619005
HP:0040069	Abnormal lower limb bone morphology	84340	GFM2	ORPHA:565624
HP:0040069	Abnormal lower limb bone morphology	55768	NGLY1	ORPHA:404454
HP:0040069	Abnormal lower limb bone morphology	60676	PAPPA2	OMIM:619489
HP:0040069	Abnormal lower limb bone morphology	64132	XYLT2	OMIM:605822
HP:0040069	Abnormal lower limb bone morphology	23299	BICD2	OMIM:618291
HP:0040069	Abnormal lower limb bone morphology	10312	TCIRG1	OMIM:259700
HP:0040069	Abnormal lower limb bone morphology	8792	TNFRSF11A	OMIM:612301
HP:0040069	Abnormal lower limb bone morphology	221496	LEMD2	OMIM:619322
HP:0040069	Abnormal lower limb bone morphology	2019	EN1	OMIM:619218
HP:0040069	Abnormal lower limb bone morphology	26175	LYSET	OMIM:619345
HP:0040069	Abnormal lower limb bone morphology	25923	ATL3	OMIM:615632
HP:0040069	Abnormal lower limb bone morphology	6597	SMARCA4	OMIM:614609
HP:0040069	Abnormal lower limb bone morphology	3782	KCNN3	OMIM:618658
HP:0040069	Abnormal lower limb bone morphology	285203	EOGT	OMIM:615297
HP:0040069	Abnormal lower limb bone morphology	1656	DDX6	OMIM:618653
HP:0040069	Abnormal lower limb bone morphology	57479	PRR12	OMIM:619539
HP:0040069	Abnormal lower limb bone morphology	6326	SCN2A	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	6326	SCN2A	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	2554	GABRA1	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	6323	SCN1A	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	6323	SCN1A	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	6324	SCN1B	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	6324	SCN1B	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	57526	PCDH19	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	2566	GABRG2	ORPHA:33069
HP:0040069	Abnormal lower limb bone morphology	2566	GABRG2	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	112755	STX1B	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	348980	HCN1	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	84059	ADGRV1	ORPHA:36387
HP:0040069	Abnormal lower limb bone morphology	65992	DDRGK1	OMIM:602557
HP:0040069	Abnormal lower limb bone morphology	5885	RAD21	OMIM:614701
HP:0040069	Abnormal lower limb bone morphology	91147	TMEM67	OMIM:602152
HP:0040069	Abnormal lower limb bone morphology	8720	MBTPS1	OMIM:618392
HP:0040069	Abnormal lower limb bone morphology	10651	MTX2	OMIM:619127
HP:0040069	Abnormal lower limb bone morphology	23233	EXOC6B	OMIM:618395
HP:0040069	Abnormal lower limb bone morphology	4318	MMP9	OMIM:613073
HP:0040069	Abnormal lower limb bone morphology	84068	SLC10A7	OMIM:618363
HP:0040069	Abnormal lower limb bone morphology	5286	PIK3C2A	OMIM:618440
HP:0040069	Abnormal lower limb bone morphology	9469	CHST3	OMIM:143095
HP:0040069	Abnormal lower limb bone morphology	1108	CHD4	OMIM:617159
HP:0040069	Abnormal lower limb bone morphology	860	RUNX2	OMIM:119600
HP:0040069	Abnormal lower limb bone morphology	9742	IFT140	OMIM:266920
HP:0040069	Abnormal lower limb bone morphology	80169	CTC1	OMIM:612199
HP:0040069	Abnormal lower limb bone morphology	3930	LBR	OMIM:618019
HP:0040069	Abnormal lower limb bone morphology	25886	POC1A	OMIM:614813
HP:0040069	Abnormal lower limb bone morphology	5830	PEX5	OMIM:616716
HP:0040068	Abnormality of limb bone	4854	NOTCH3	ORPHA:2591
HP:0040068	Abnormality of limb bone	3418	IDH2	ORPHA:296
HP:0040068	Abnormality of limb bone	84168	ANTXR1	ORPHA:2067
HP:0040068	Abnormality of limb bone	10617	STAMBP	OMIM:614261
HP:0040068	Abnormality of limb bone	28981	IFT81	OMIM:617895
HP:0040068	Abnormality of limb bone	392255	GDF6	OMIM:617898
HP:0040068	Abnormality of limb bone	5238	PGM3	ORPHA:443811
HP:0040068	Abnormality of limb bone	55733	HHAT	OMIM:600092
HP:0040068	Abnormality of limb bone	1836	SLC26A2	ORPHA:56304
HP:0040068	Abnormality of limb bone	1836	SLC26A2	OMIM:226900
HP:0040068	Abnormality of limb bone	1836	SLC26A2	ORPHA:93307
HP:0040068	Abnormality of limb bone	9786	KIAA0586	ORPHA:397715
HP:0040068	Abnormality of limb bone	114803	MYSM1	ORPHA:508542
HP:0040068	Abnormality of limb bone	149775	GNAS-AS1	OMIM:603233
HP:0040068	Abnormality of limb bone	8675	STX16	OMIM:603233
HP:0040068	Abnormality of limb bone	2778	GNAS	OMIM:603233
HP:0040068	Abnormality of limb bone	2778	GNAS	ORPHA:79443
HP:0040068	Abnormality of limb bone	2778	GNAS	ORPHA:79444
HP:0040068	Abnormality of limb bone	2778	GNAS	ORPHA:79445
HP:0040068	Abnormality of limb bone	2778	GNAS	OMIM:612463
HP:0040068	Abnormality of limb bone	2778	GNAS	OMIM:612462
HP:0040068	Abnormality of limb bone	2778	GNAS	ORPHA:2762
HP:0040068	Abnormality of limb bone	2778	GNAS	OMIM:103580
HP:0040068	Abnormality of limb bone	10026	PIGK	OMIM:618879
HP:0040068	Abnormality of limb bone	28960	DCPS	OMIM:616459
HP:0040068	Abnormality of limb bone	57231	SNX14	ORPHA:397709
HP:0040068	Abnormality of limb bone	57231	SNX14	OMIM:616354
HP:0040068	Abnormality of limb bone	1513	CTSK	OMIM:265800
HP:0040068	Abnormality of limb bone	1513	CTSK	ORPHA:763
HP:0040068	Abnormality of limb bone	818	CAMK2G	OMIM:618522
HP:0040068	Abnormality of limb bone	54453	RIN2	OMIM:613075
HP:0040068	Abnormality of limb bone	54453	RIN2	ORPHA:217335
HP:0040068	Abnormality of limb bone	170691	ADAMTS17	OMIM:613195
HP:0040068	Abnormality of limb bone	9469	CHST3	OMIM:143095
HP:0040068	Abnormality of limb bone	9469	CHST3	ORPHA:263463
HP:0040068	Abnormality of limb bone	7994	KAT6A	ORPHA:457193
HP:0040068	Abnormality of limb bone	7994	KAT6A	OMIM:616268
HP:0040068	Abnormality of limb bone	84100	ARL6	OMIM:209900
HP:0040068	Abnormality of limb bone	84100	ARL6	OMIM:600151
HP:0040068	Abnormality of limb bone	79140	CCDC28B	OMIM:209900
HP:0040068	Abnormality of limb bone	582	BBS1	OMIM:209900
HP:0040068	Abnormality of limb bone	8036	SHOC2	ORPHA:2701
HP:0040068	Abnormality of limb bone	5500	PPP1CB	ORPHA:2701
HP:0040068	Abnormality of limb bone	63901	FAM111A	OMIM:602361
HP:0040068	Abnormality of limb bone	81794	ADAMTS10	OMIM:277600
HP:0040068	Abnormality of limb bone	81794	ADAMTS10	ORPHA:3449
HP:0040068	Abnormality of limb bone	153241	CEP120	ORPHA:474
HP:0040068	Abnormality of limb bone	51626	DYNC2LI1	ORPHA:474
HP:0040068	Abnormality of limb bone	51626	DYNC2LI1	OMIM:617088
HP:0040068	Abnormality of limb bone	79809	TTC21B	ORPHA:474
HP:0040068	Abnormality of limb bone	79809	TTC21B	OMIM:613819
HP:0040068	Abnormality of limb bone	8493	PPM1D	OMIM:617450
HP:0040068	Abnormality of limb bone	56006	SMG9	OMIM:619995
HP:0040068	Abnormality of limb bone	23126	POGZ	OMIM:616364
HP:0040068	Abnormality of limb bone	27125	AFF4	OMIM:616368
HP:0040068	Abnormality of limb bone	27125	AFF4	ORPHA:444077
HP:0040068	Abnormality of limb bone	1311	COMP	OMIM:177170
HP:0040068	Abnormality of limb bone	1311	COMP	ORPHA:750
HP:0040068	Abnormality of limb bone	1311	COMP	ORPHA:93308
HP:0040068	Abnormality of limb bone	4247	MGAT2	ORPHA:79329
HP:0040068	Abnormality of limb bone	8314	BAP1	OMIM:619762
HP:0040068	Abnormality of limb bone	54928	BPNT2	OMIM:614078
HP:0040068	Abnormality of limb bone	3930	LBR	OMIM:215140
HP:0040068	Abnormality of limb bone	3930	LBR	OMIM:618019
HP:0040068	Abnormality of limb bone	3930	LBR	ORPHA:1426
HP:0040068	Abnormality of limb bone	4488	MSX2	OMIM:604757
HP:0040068	Abnormality of limb bone	5727	PTCH1	ORPHA:377
HP:0040068	Abnormality of limb bone	5727	PTCH1	OMIM:109400
HP:0040068	Abnormality of limb bone	8643	PTCH2	ORPHA:377
HP:0040068	Abnormality of limb bone	51684	SUFU	ORPHA:377
HP:0040068	Abnormality of limb bone	6603	SMARCD2	OMIM:617475
HP:0040068	Abnormality of limb bone	23219	FBXO28	OMIM:619777
HP:0040068	Abnormality of limb bone	51322	WAC	ORPHA:466950
HP:0040068	Abnormality of limb bone	29929	ALG6	ORPHA:79320
HP:0040068	Abnormality of limb bone	79053	ALG8	ORPHA:79325
HP:0040068	Abnormality of limb bone	257	ALX3	OMIM:136760
HP:0040068	Abnormality of limb bone	257	ALX3	ORPHA:391474
HP:0040068	Abnormality of limb bone	2623	GATA1	OMIM:190685
HP:0040068	Abnormality of limb bone	176	ACAN	OMIM:612813
HP:0040068	Abnormality of limb bone	176	ACAN	ORPHA:171866
HP:0040068	Abnormality of limb bone	176	ACAN	ORPHA:435804
HP:0040068	Abnormality of limb bone	176	ACAN	OMIM:165800
HP:0040068	Abnormality of limb bone	51114	ZDHHC9	ORPHA:776
HP:0040068	Abnormality of limb bone	65109	UPF3B	ORPHA:776
HP:0040068	Abnormality of limb bone	79068	FTO	OMIM:612938
HP:0040068	Abnormality of limb bone	56975	FAM20C	OMIM:259775
HP:0040068	Abnormality of limb bone	55249	YY1AP1	OMIM:602531
HP:0040068	Abnormality of limb bone	10940	POP1	OMIM:617396
HP:0040068	Abnormality of limb bone	51132	RLIM	OMIM:300978
HP:0040068	Abnormality of limb bone	4141	MARS1	OMIM:619692
HP:0040068	Abnormality of limb bone	1621	DBH	OMIM:223360
HP:0040068	Abnormality of limb bone	2316	FLNA	ORPHA:88630
HP:0040068	Abnormality of limb bone	2316	FLNA	OMIM:300244
HP:0040068	Abnormality of limb bone	5077	PAX3	OMIM:148820
HP:0040068	Abnormality of limb bone	10483	SEC23B	ORPHA:201
HP:0040068	Abnormality of limb bone	6390	SDHB	ORPHA:201
HP:0040068	Abnormality of limb bone	6392	SDHD	ORPHA:201
HP:0040068	Abnormality of limb bone	6391	SDHC	ORPHA:201
HP:0040068	Abnormality of limb bone	205717	USF3	ORPHA:201
HP:0040068	Abnormality of limb bone	5290	PIK3CA	ORPHA:201
HP:0040068	Abnormality of limb bone	100144748	KLLN	ORPHA:201
HP:0040068	Abnormality of limb bone	633	BGN	OMIM:300989
HP:0040068	Abnormality of limb bone	633	BGN	OMIM:300106
HP:0040068	Abnormality of limb bone	7403	KDM6A	OMIM:300867
HP:0040068	Abnormality of limb bone	5144	PDE4D	ORPHA:439822
HP:0040068	Abnormality of limb bone	5144	PDE4D	ORPHA:950
HP:0040068	Abnormality of limb bone	5144	PDE4D	OMIM:614613
HP:0040068	Abnormality of limb bone	5144	PDE4D	ORPHA:280651
HP:0040068	Abnormality of limb bone	6023	RMRP	OMIM:607095
HP:0040068	Abnormality of limb bone	5573	PRKAR1A	OMIM:101800
HP:0040068	Abnormality of limb bone	5573	PRKAR1A	ORPHA:950
HP:0040068	Abnormality of limb bone	5573	PRKAR1A	ORPHA:280651
HP:0040068	Abnormality of limb bone	64374	SIL1	ORPHA:559
HP:0040068	Abnormality of limb bone	51763	INPP5K	ORPHA:559
HP:0040068	Abnormality of limb bone	9851	KIAA0753	OMIM:619479
HP:0040068	Abnormality of limb bone	9851	KIAA0753	ORPHA:2754
HP:0040068	Abnormality of limb bone	5530	PPP3CA	OMIM:618265
HP:0040068	Abnormality of limb bone	10283	CWC27	OMIM:250410
HP:0040068	Abnormality of limb bone	10283	CWC27	ORPHA:166035
HP:0040068	Abnormality of limb bone	6513	SLC2A1	ORPHA:168577
HP:0040068	Abnormality of limb bone	9060	PAPSS2	OMIM:612847
HP:0040068	Abnormality of limb bone	4796	TONSL	OMIM:271510
HP:0040068	Abnormality of limb bone	4796	TONSL	ORPHA:93357
HP:0040068	Abnormality of limb bone	2131	EXT1	ORPHA:502
HP:0040068	Abnormality of limb bone	8720	MBTPS1	OMIM:618392
HP:0040068	Abnormality of limb bone	2077	ERF	OMIM:617180
HP:0040068	Abnormality of limb bone	5130	PCYT1A	ORPHA:85167
HP:0040068	Abnormality of limb bone	5130	PCYT1A	OMIM:608940
HP:0040068	Abnormality of limb bone	23169	SLC35D1	OMIM:269250
HP:0040068	Abnormality of limb bone	407975	MIR17HG	ORPHA:391646
HP:0040068	Abnormality of limb bone	5295	PIK3R1	ORPHA:3163
HP:0040068	Abnormality of limb bone	51371	POMP	OMIM:618048
HP:0040068	Abnormality of limb bone	57152	SLURP1	OMIM:248300
HP:0040068	Abnormality of limb bone	51594	NBAS	OMIM:614800
HP:0040068	Abnormality of limb bone	4000	LMNA	ORPHA:168796
HP:0040068	Abnormality of limb bone	4000	LMNA	OMIM:610140
HP:0040068	Abnormality of limb bone	9897	WASHC5	ORPHA:7
HP:0040068	Abnormality of limb bone	11011	TLK2	OMIM:618050
HP:0040068	Abnormality of limb bone	51109	RDH11	ORPHA:436245
HP:0040068	Abnormality of limb bone	25886	POC1A	OMIM:614813
HP:0040068	Abnormality of limb bone	4053	LTBP2	OMIM:614819
HP:0040068	Abnormality of limb bone	4053	LTBP2	ORPHA:3449
HP:0040068	Abnormality of limb bone	2690	GHR	ORPHA:633
HP:0040068	Abnormality of limb bone	9131	AIFM1	OMIM:300232
HP:0040068	Abnormality of limb bone	118429	ANTXR2	ORPHA:2176
HP:0040068	Abnormality of limb bone	5447	POR	ORPHA:95699
HP:0040068	Abnormality of limb bone	22858	CILK1	OMIM:612651
HP:0040068	Abnormality of limb bone	26153	KIF26A	OMIM:620156
HP:0040068	Abnormality of limb bone	56992	KIF15	ORPHA:261323
HP:0040068	Abnormality of limb bone	8289	ARID1A	OMIM:614607
HP:0040068	Abnormality of limb bone	4054	LTBP3	ORPHA:969
HP:0040068	Abnormality of limb bone	4054	LTBP3	OMIM:617809
HP:0040068	Abnormality of limb bone	222663	SCUBE3	OMIM:619184
HP:0040068	Abnormality of limb bone	6885	MAP3K7	OMIM:157800
HP:0040068	Abnormality of limb bone	6885	MAP3K7	ORPHA:3238
HP:0040068	Abnormality of limb bone	51021	MRPS16	OMIM:610498
HP:0040068	Abnormality of limb bone	4853	NOTCH2	ORPHA:955
HP:0040068	Abnormality of limb bone	2254	FGF9	ORPHA:3237
HP:0040068	Abnormality of limb bone	55343	SLC35C1	OMIM:266265
HP:0040068	Abnormality of limb bone	9321	TRIP11	OMIM:184260
HP:0040068	Abnormality of limb bone	5159	PDGFRB	OMIM:601812
HP:0040068	Abnormality of limb bone	5139	PDE3A	ORPHA:1276
HP:0040068	Abnormality of limb bone	7048	TGFBR2	OMIM:610168
HP:0040068	Abnormality of limb bone	8195	MKKS	ORPHA:2473
HP:0040068	Abnormality of limb bone	4882	NPR2	ORPHA:40
HP:0040068	Abnormality of limb bone	50945	TBX22	ORPHA:921
HP:0040068	Abnormality of limb bone	585	BBS4	OMIM:615982
HP:0040068	Abnormality of limb bone	129880	BBS5	OMIM:615983
HP:0040068	Abnormality of limb bone	27241	BBS9	OMIM:615986
HP:0040068	Abnormality of limb bone	196528	ARID2	OMIM:617808
HP:0040068	Abnormality of limb bone	55081	IFT57	OMIM:617927
HP:0040068	Abnormality of limb bone	6938	TCF12	ORPHA:35099
HP:0040068	Abnormality of limb bone	6938	TCF12	OMIM:615314
HP:0040068	Abnormality of limb bone	7545	ZIC1	ORPHA:35099
HP:0040068	Abnormality of limb bone	92482	BBIP1	OMIM:615995
HP:0040068	Abnormality of limb bone	5053	PAH	ORPHA:2209
HP:0040068	Abnormality of limb bone	101929726	MYMX	ORPHA:1358
HP:0040068	Abnormality of limb bone	114548	NLRP3	ORPHA:1451
HP:0040068	Abnormality of limb bone	9419	CRIPT	OMIM:615789
HP:0040068	Abnormality of limb bone	9361	LONP1	ORPHA:1458
HP:0040068	Abnormality of limb bone	8092	ALX1	ORPHA:306542
HP:0040068	Abnormality of limb bone	54361	WNT4	ORPHA:247768
HP:0040068	Abnormality of limb bone	55617	TASP1	OMIM:618950
HP:0040068	Abnormality of limb bone	5744	PTHLH	OMIM:613382
HP:0040068	Abnormality of limb bone	113246	C12orf57	OMIM:218340
HP:0040068	Abnormality of limb bone	5331	PLCB3	OMIM:618961
HP:0040068	Abnormality of limb bone	387	RHOA	OMIM:618727
HP:0040068	Abnormality of limb bone	10210	TOPORS	ORPHA:2754
HP:0040068	Abnormality of limb bone	317662	FAM149B1	ORPHA:2754
HP:0040068	Abnormality of limb bone	23404	EXOSC2	OMIM:617763
HP:0040068	Abnormality of limb bone	406932	MIR140	OMIM:618618
HP:0040068	Abnormality of limb bone	25871	NEPRO	OMIM:618853
HP:0040068	Abnormality of limb bone	255758	DYNLT2B	OMIM:617405
HP:0040068	Abnormality of limb bone	5604	MAP2K1	OMIM:163950
HP:0040068	Abnormality of limb bone	50964	SOST	OMIM:269500
HP:0040068	Abnormality of limb bone	84529	CDIN1	OMIM:615631
HP:0040068	Abnormality of limb bone	7681	MKRN3	OMIM:176270
HP:0040068	Abnormality of limb bone	3653	IPW	OMIM:176270
HP:0040068	Abnormality of limb bone	791114	PWRN1	OMIM:176270
HP:0040068	Abnormality of limb bone	100033413	SNORD116-1	OMIM:176270
HP:0040068	Abnormality of limb bone	8924	HERC2	OMIM:176270
HP:0040068	Abnormality of limb bone	145624	PWAR1	OMIM:176270
HP:0040068	Abnormality of limb bone	23742	NPAP1	OMIM:176270
HP:0040068	Abnormality of limb bone	338433	SNORD115-1	OMIM:176270
HP:0040068	Abnormality of limb bone	1723	DHODH	OMIM:263750
HP:0040068	Abnormality of limb bone	4552	MTRR	ORPHA:2169
HP:0040068	Abnormality of limb bone	2192	FBLN1	ORPHA:404451
HP:0040068	Abnormality of limb bone	8913	CACNA1G	OMIM:618087
HP:0040068	Abnormality of limb bone	23389	MED13L	ORPHA:369891
HP:0040068	Abnormality of limb bone	8550	MAPKAPK5	OMIM:619869
HP:0040068	Abnormality of limb bone	29957	SLC25A24	OMIM:612289
HP:0040068	Abnormality of limb bone	4659	PPP1R12A	OMIM:618820
HP:0040068	Abnormality of limb bone	6305	SBF1	OMIM:615284
HP:0040068	Abnormality of limb bone	57688	ZSWIM6	OMIM:603671
HP:0040068	Abnormality of limb bone	79989	IFT56	OMIM:619534
HP:0040068	Abnormality of limb bone	775	CACNA1C	OMIM:618447
HP:0040068	Abnormality of limb bone	8831	SYNGAP1	ORPHA:1942
HP:0040068	Abnormality of limb bone	1173	AP2M1	ORPHA:1942
HP:0040068	Abnormality of limb bone	6323	SCN1A	ORPHA:1942
HP:0040068	Abnormality of limb bone	1106	CHD2	ORPHA:1942
HP:0040068	Abnormality of limb bone	6529	SLC6A1	ORPHA:1942
HP:0040068	Abnormality of limb bone	3914	LAMB3	OMIM:226700
HP:0040068	Abnormality of limb bone	3909	LAMA3	OMIM:226700
HP:0040068	Abnormality of limb bone	3918	LAMC2	OMIM:226700
HP:0040068	Abnormality of limb bone	54101	RIPK4	OMIM:263650
HP:0040068	Abnormality of limb bone	92935	MARS2	OMIM:616430
HP:0040068	Abnormality of limb bone	146059	CDAN1	OMIM:224120
HP:0040068	Abnormality of limb bone	4038	LRP4	OMIM:212780
HP:0040068	Abnormality of limb bone	54806	AHI1	ORPHA:475
HP:0040068	Abnormality of limb bone	54806	AHI1	ORPHA:220493
HP:0040068	Abnormality of limb bone	200894	ARL13B	ORPHA:475
HP:0040068	Abnormality of limb bone	9731	CEP104	ORPHA:475
HP:0040068	Abnormality of limb bone	23247	KATNIP	ORPHA:475
HP:0040068	Abnormality of limb bone	219854	TMEM218	ORPHA:475
HP:0040068	Abnormality of limb bone	95681	CEP41	ORPHA:475
HP:0040068	Abnormality of limb bone	95681	CEP41	ORPHA:220493
HP:0040068	Abnormality of limb bone	10464	PIBF1	ORPHA:475
HP:0040068	Abnormality of limb bone	23116	TOGARAM1	ORPHA:475
HP:0040068	Abnormality of limb bone	25776	CBY1	ORPHA:475
HP:0040068	Abnormality of limb bone	403	ARL3	ORPHA:475
HP:0040068	Abnormality of limb bone	5626	PROP1	ORPHA:226307
HP:0040068	Abnormality of limb bone	89884	LHX4	ORPHA:226307
HP:0040068	Abnormality of limb bone	8022	LHX3	ORPHA:226307
HP:0040068	Abnormality of limb bone	5449	POU1F1	ORPHA:226307
HP:0040068	Abnormality of limb bone	8820	HESX1	ORPHA:226307
HP:0040068	Abnormality of limb bone	51	ACOX1	ORPHA:2971
HP:0040068	Abnormality of limb bone	7547	ZIC3	OMIM:314390
HP:0040068	Abnormality of limb bone	26154	ABCA12	ORPHA:457
HP:0040068	Abnormality of limb bone	8241	RBM10	ORPHA:2886
HP:0040068	Abnormality of limb bone	51524	TMEM138	ORPHA:2318
HP:0040068	Abnormality of limb bone	23090	ZNF423	ORPHA:2318
HP:0040068	Abnormality of limb bone	5566	PRKACA	ORPHA:289
HP:0040068	Abnormality of limb bone	2313	FLI1	ORPHA:2308
HP:0040068	Abnormality of limb bone	6309	SC5D	ORPHA:46059
HP:0040068	Abnormality of limb bone	6309	SC5D	OMIM:607330
HP:0040068	Abnormality of limb bone	894	CCND2	ORPHA:83473
HP:0040068	Abnormality of limb bone	894	CCND2	OMIM:615938
HP:0040068	Abnormality of limb bone	5296	PIK3R2	ORPHA:83473
HP:0040068	Abnormality of limb bone	10000	AKT3	ORPHA:83473
HP:0040068	Abnormality of limb bone	10000	AKT3	OMIM:615937
HP:0040068	Abnormality of limb bone	56623	INPP5E	OMIM:213300
HP:0040068	Abnormality of limb bone	56623	INPP5E	ORPHA:1454
HP:0040068	Abnormality of limb bone	55593	OTUD5	OMIM:301056
HP:0040068	Abnormality of limb bone	83479	DDX59	OMIM:174300
HP:0040068	Abnormality of limb bone	83479	DDX59	ORPHA:2919
HP:0040068	Abnormality of limb bone	285600	KIAA0825	OMIM:618498
HP:0040068	Abnormality of limb bone	26005	C2CD3	OMIM:615948
HP:0040068	Abnormality of limb bone	26005	C2CD3	ORPHA:434179
HP:0040068	Abnormality of limb bone	26040	SETBP1	OMIM:269150
HP:0040068	Abnormality of limb bone	11020	IFT27	ORPHA:110
HP:0040068	Abnormality of limb bone	49855	SCAPER	ORPHA:110
HP:0040068	Abnormality of limb bone	4867	NPHP1	ORPHA:110
HP:0040068	Abnormality of limb bone	84984	CEP19	ORPHA:110
HP:0040068	Abnormality of limb bone	22954	TRIM32	ORPHA:110
HP:0040068	Abnormality of limb bone	79738	BBS10	ORPHA:110
HP:0040068	Abnormality of limb bone	123016	TTC8	ORPHA:110
HP:0040068	Abnormality of limb bone	583	BBS2	ORPHA:110
HP:0040068	Abnormality of limb bone	583	BBS2	OMIM:615981
HP:0040068	Abnormality of limb bone	166379	BBS12	ORPHA:110
HP:0040068	Abnormality of limb bone	166379	BBS12	OMIM:615989
HP:0040068	Abnormality of limb bone	10806	SDCCAG8	ORPHA:110
HP:0040068	Abnormality of limb bone	157657	CFAP418	ORPHA:110
HP:0040068	Abnormality of limb bone	157657	CFAP418	OMIM:617406
HP:0040068	Abnormality of limb bone	80173	IFT74	ORPHA:110
HP:0040068	Abnormality of limb bone	79005	SCNM1	OMIM:620107
HP:0040068	Abnormality of limb bone	2736	GLI2	OMIM:610829
HP:0040068	Abnormality of limb bone	51360	MBTPS2	OMIM:308205
HP:0040068	Abnormality of limb bone	51360	MBTPS2	ORPHA:85284
HP:0040068	Abnormality of limb bone	80210	ARMC9	OMIM:617622
HP:0040068	Abnormality of limb bone	23288	IQCE	OMIM:617642
HP:0040068	Abnormality of limb bone	137392	CIBAR1	OMIM:618219
HP:0040068	Abnormality of limb bone	7700	ZNF141	OMIM:615226
HP:0040068	Abnormality of limb bone	4088	SMAD3	ORPHA:284984
HP:0040068	Abnormality of limb bone	4088	SMAD3	OMIM:613795
HP:0040068	Abnormality of limb bone	4088	SMAD3	ORPHA:91387
HP:0040068	Abnormality of limb bone	875	CBS	ORPHA:394
HP:0040068	Abnormality of limb bone	875	CBS	OMIM:236200
HP:0040068	Abnormality of limb bone	25970	SH2B1	ORPHA:261222
HP:0040068	Abnormality of limb bone	199857	ALG14	OMIM:619036
HP:0040068	Abnormality of limb bone	8925	HERC1	OMIM:617011
HP:0040068	Abnormality of limb bone	8925	HERC1	ORPHA:457359
HP:0040068	Abnormality of limb bone	1075	CTSC	OMIM:245010
HP:0040068	Abnormality of limb bone	1075	CTSC	ORPHA:678
HP:0040068	Abnormality of limb bone	5351	PLOD1	OMIM:225400
HP:0040068	Abnormality of limb bone	8076	MFAP5	OMIM:616166
HP:0040068	Abnormality of limb bone	8076	MFAP5	ORPHA:91387
HP:0040068	Abnormality of limb bone	80816	ASXL3	OMIM:615485
HP:0040068	Abnormality of limb bone	80816	ASXL3	ORPHA:352577
HP:0040068	Abnormality of limb bone	72	ACTG2	ORPHA:2604
HP:0040068	Abnormality of limb bone	30008	EFEMP2	OMIM:614437
HP:0040068	Abnormality of limb bone	79693	YRDC	OMIM:619609
HP:0040068	Abnormality of limb bone	1146	CHRNG	OMIM:265000
HP:0040068	Abnormality of limb bone	284058	KANSL1	ORPHA:363958
HP:0040068	Abnormality of limb bone	284058	KANSL1	ORPHA:363965
HP:0040068	Abnormality of limb bone	1272	CNTN1	OMIM:612540
HP:0040068	Abnormality of limb bone	29920	PYCR2	ORPHA:481152
HP:0040068	Abnormality of limb bone	29920	PYCR2	OMIM:616420
HP:0040068	Abnormality of limb bone	1312	COMT	ORPHA:567
HP:0040068	Abnormality of limb bone	221037	JMJD1C	ORPHA:567
HP:0040068	Abnormality of limb bone	2812	GP1BB	ORPHA:567
HP:0040068	Abnormality of limb bone	6239	RREB1	ORPHA:567
HP:0040068	Abnormality of limb bone	7290	HIRA	ORPHA:567
HP:0040068	Abnormality of limb bone	9632	SEC24C	ORPHA:567
HP:0040068	Abnormality of limb bone	7353	UFD1	ORPHA:567
HP:0040068	Abnormality of limb bone	421	ARVCF	ORPHA:567
HP:0040068	Abnormality of limb bone	444	ASPH	OMIM:601552
HP:0040068	Abnormality of limb bone	79576	NKAP	OMIM:301039
HP:0040068	Abnormality of limb bone	3188	HNRNPH2	OMIM:300986
HP:0040068	Abnormality of limb bone	23152	CIC	OMIM:617600
HP:0040068	Abnormality of limb bone	649	BMP1	OMIM:614856
HP:0040068	Abnormality of limb bone	165	AEBP1	ORPHA:536532
HP:0040068	Abnormality of limb bone	11285	B4GALT7	ORPHA:75496
HP:0040068	Abnormality of limb bone	11285	B4GALT7	OMIM:130070
HP:0040068	Abnormality of limb bone	10526	IPO8	OMIM:619472
HP:0040068	Abnormality of limb bone	10526	IPO8	ORPHA:60030
HP:0040068	Abnormality of limb bone	4534	MTM1	OMIM:310400
HP:0040068	Abnormality of limb bone	5184	PEPD	ORPHA:742
HP:0040068	Abnormality of limb bone	715	C1R	OMIM:130080
HP:0040068	Abnormality of limb bone	60676	PAPPA2	OMIM:619489
HP:0040068	Abnormality of limb bone	1742	DLG4	OMIM:618793
HP:0040068	Abnormality of limb bone	6605	SMARCE1	OMIM:616938
HP:0040068	Abnormality of limb bone	11107	PRDM5	ORPHA:90354
HP:0040068	Abnormality of limb bone	84627	ZNF469	ORPHA:90354
HP:0040068	Abnormality of limb bone	4677	NARS1	OMIM:619092
HP:0040068	Abnormality of limb bone	6651	SON	ORPHA:500150
HP:0040068	Abnormality of limb bone	2193	FARSA	OMIM:619013
HP:0040068	Abnormality of limb bone	4087	SMAD2	OMIM:619656
HP:0040068	Abnormality of limb bone	4087	SMAD2	ORPHA:91387
HP:0040068	Abnormality of limb bone	29893	PSMC3IP	ORPHA:243
HP:0040068	Abnormality of limb bone	171568	POLR3H	ORPHA:243
HP:0040068	Abnormality of limb bone	2516	NR5A1	ORPHA:243
HP:0040068	Abnormality of limb bone	125150	ZSWIM7	ORPHA:243
HP:0040068	Abnormality of limb bone	9210	BMP15	ORPHA:243
HP:0040068	Abnormality of limb bone	23514	SPIDR	ORPHA:243
HP:0040068	Abnormality of limb bone	2492	FSHR	ORPHA:243
HP:0040068	Abnormality of limb bone	56945	MRPS22	ORPHA:243
HP:0040068	Abnormality of limb bone	646	BNC1	ORPHA:243
HP:0040068	Abnormality of limb bone	4883	NPR3	OMIM:619543
HP:0040068	Abnormality of limb bone	7043	TGFB3	OMIM:615582
HP:0040068	Abnormality of limb bone	7043	TGFB3	ORPHA:91387
HP:0040068	Abnormality of limb bone	7046	TGFBR1	ORPHA:60030
HP:0040068	Abnormality of limb bone	7046	TGFBR1	OMIM:609192
HP:0040068	Abnormality of limb bone	7046	TGFBR1	ORPHA:91387
HP:0040068	Abnormality of limb bone	56603	CYP26B1	OMIM:614416
HP:0040068	Abnormality of limb bone	7042	TGFB2	OMIM:614816
HP:0040068	Abnormality of limb bone	7042	TGFB2	ORPHA:91387
HP:0040068	Abnormality of limb bone	4629	MYH11	ORPHA:91387
HP:0040068	Abnormality of limb bone	4015	LOX	ORPHA:91387
HP:0040068	Abnormality of limb bone	59	ACTA2	ORPHA:91387
HP:0040068	Abnormality of limb bone	5592	PRKG1	ORPHA:91387
HP:0040068	Abnormality of limb bone	2301	FOXE3	ORPHA:91387
HP:0040068	Abnormality of limb bone	4144	MAT2A	ORPHA:91387
HP:0040068	Abnormality of limb bone	23493	HEY2	ORPHA:91387
HP:0040068	Abnormality of limb bone	4638	MYLK	ORPHA:91387
HP:0040068	Abnormality of limb bone	1593	CYP27A1	ORPHA:909
HP:0040068	Abnormality of limb bone	23400	ATP13A2	ORPHA:306674
HP:0040068	Abnormality of limb bone	134218	DNAJC21	ORPHA:811
HP:0040068	Abnormality of limb bone	79631	EFL1	ORPHA:811
HP:0040068	Abnormality of limb bone	51119	SBDS	ORPHA:811
HP:0040068	Abnormality of limb bone	6729	SRP54	ORPHA:811
HP:0040068	Abnormality of limb bone	6926	TBX3	ORPHA:3138
HP:0040068	Abnormality of limb bone	64840	PORCN	OMIM:305600
HP:0040068	Abnormality of limb bone	64840	PORCN	ORPHA:2092
HP:0040068	Abnormality of limb bone	5376	PMP22	OMIM:118300
HP:0040068	Abnormality of limb bone	5376	PMP22	OMIM:118220
HP:0040068	Abnormality of limb bone	5376	PMP22	ORPHA:90658
HP:0040068	Abnormality of limb bone	5376	PMP22	OMIM:145900
HP:0040068	Abnormality of limb bone	6910	TBX5	ORPHA:392
HP:0040068	Abnormality of limb bone	22880	MORC2	OMIM:616688
HP:0040068	Abnormality of limb bone	1001	CDH3	OMIM:225280
HP:0040068	Abnormality of limb bone	8626	TP63	OMIM:604292
HP:0040068	Abnormality of limb bone	8626	TP63	ORPHA:2440
HP:0040068	Abnormality of limb bone	8626	TP63	OMIM:103285
HP:0040068	Abnormality of limb bone	8626	TP63	OMIM:603543
HP:0040068	Abnormality of limb bone	8626	TP63	OMIM:605289
HP:0040068	Abnormality of limb bone	8626	TP63	ORPHA:1896
HP:0040068	Abnormality of limb bone	4047	LSS	ORPHA:2850
HP:0040068	Abnormality of limb bone	197	AHSG	ORPHA:2850
HP:0040068	Abnormality of limb bone	3694	ITGB6	ORPHA:2850
HP:0040068	Abnormality of limb bone	79581	SLC52A2	OMIM:614707
HP:0040068	Abnormality of limb bone	411	ARSB	OMIM:253200
HP:0040068	Abnormality of limb bone	9150	CTDP1	OMIM:604168
HP:0040068	Abnormality of limb bone	54332	GDAP1	OMIM:607831
HP:0040068	Abnormality of limb bone	54332	GDAP1	ORPHA:101097
HP:0040068	Abnormality of limb bone	56704	JPH1	OMIM:607831
HP:0040068	Abnormality of limb bone	51776	MAP3K20	OMIM:616890
HP:0040068	Abnormality of limb bone	1750	DLX6	ORPHA:2440
HP:0040068	Abnormality of limb bone	7979	SEM1	ORPHA:2440
HP:0040068	Abnormality of limb bone	8945	BTRC	ORPHA:2440
HP:0040068	Abnormality of limb bone	58513	EPS15L1	ORPHA:2440
HP:0040068	Abnormality of limb bone	6468	FBXW4	ORPHA:2440
HP:0040068	Abnormality of limb bone	7480	WNT10B	ORPHA:2440
HP:0040068	Abnormality of limb bone	7480	WNT10B	OMIM:225300
HP:0040068	Abnormality of limb bone	1749	DLX5	ORPHA:2440
HP:0040068	Abnormality of limb bone	1749	DLX5	OMIM:183600
HP:0040068	Abnormality of limb bone	1749	DLX5	OMIM:220600
HP:0040068	Abnormality of limb bone	1717	DHCR7	ORPHA:818
HP:0040068	Abnormality of limb bone	81846	SBF2	OMIM:604563
HP:0040068	Abnormality of limb bone	79158	GNPTAB	OMIM:252500
HP:0040068	Abnormality of limb bone	79158	GNPTAB	OMIM:252600
HP:0040068	Abnormality of limb bone	3516	RBPJ	ORPHA:974
HP:0040068	Abnormality of limb bone	4851	NOTCH1	ORPHA:974
HP:0040068	Abnormality of limb bone	57514	ARHGAP31	ORPHA:974
HP:0040068	Abnormality of limb bone	57572	DOCK6	ORPHA:974
HP:0040068	Abnormality of limb bone	285203	EOGT	ORPHA:974
HP:0040068	Abnormality of limb bone	54567	DLL4	ORPHA:974
HP:0040068	Abnormality of limb bone	8888	MCM3AP	OMIM:618124
HP:0040068	Abnormality of limb bone	4359	MPZ	OMIM:118200
HP:0040068	Abnormality of limb bone	4359	MPZ	OMIM:145900
HP:0040068	Abnormality of limb bone	3423	IDS	OMIM:309900
HP:0040068	Abnormality of limb bone	3664	IRF6	ORPHA:1300
HP:0040068	Abnormality of limb bone	374969	SVBP	OMIM:618569
HP:0040068	Abnormality of limb bone	3295	HSD17B4	OMIM:261515
HP:0040068	Abnormality of limb bone	7476	WNT7A	OMIM:276820
HP:0040068	Abnormality of limb bone	1509	CTSD	OMIM:610127
HP:0040068	Abnormality of limb bone	64359	NXN	ORPHA:1507
HP:0040068	Abnormality of limb bone	4920	ROR2	ORPHA:1507
HP:0040068	Abnormality of limb bone	26580	BSCL2	OMIM:270685
HP:0040068	Abnormality of limb bone	26580	BSCL2	ORPHA:100998
HP:0040068	Abnormality of limb bone	4313	MMP2	OMIM:259600
HP:0040068	Abnormality of limb bone	2260	FGFR1	ORPHA:2117
HP:0040068	Abnormality of limb bone	10397	NDRG1	ORPHA:99950
HP:0040068	Abnormality of limb bone	4747	NEFL	OMIM:617882
HP:0040068	Abnormality of limb bone	1959	EGR2	OMIM:145900
HP:0040068	Abnormality of limb bone	57716	PRX	OMIM:145900
HP:0040068	Abnormality of limb bone	2189	FANCG	OMIM:614082
HP:0040068	Abnormality of limb bone	2189	FANCG	ORPHA:84
HP:0040068	Abnormality of limb bone	80207	OPA3	ORPHA:67036
HP:0040068	Abnormality of limb bone	9158	FIBP	ORPHA:500095
HP:0040068	Abnormality of limb bone	9968	MED12	ORPHA:93932
HP:0040068	Abnormality of limb bone	8200	GDF5	ORPHA:2639
HP:0040068	Abnormality of limb bone	658	BMPR1B	ORPHA:2639
HP:0040068	Abnormality of limb bone	672	BRCA1	ORPHA:84
HP:0040068	Abnormality of limb bone	10459	MAD2L2	ORPHA:84
HP:0040068	Abnormality of limb bone	7516	XRCC2	ORPHA:84
HP:0040068	Abnormality of limb bone	29089	UBE2T	ORPHA:84
HP:0040068	Abnormality of limb bone	675	BRCA2	ORPHA:84
HP:0040068	Abnormality of limb bone	55120	FANCL	ORPHA:84
HP:0040068	Abnormality of limb bone	2175	FANCA	ORPHA:84
HP:0040068	Abnormality of limb bone	2187	FANCB	ORPHA:84
HP:0040068	Abnormality of limb bone	2176	FANCC	ORPHA:84
HP:0040068	Abnormality of limb bone	2178	FANCE	ORPHA:84
HP:0040068	Abnormality of limb bone	2188	FANCF	ORPHA:84
HP:0040068	Abnormality of limb bone	5888	RAD51	ORPHA:84
HP:0040068	Abnormality of limb bone	5889	RAD51C	ORPHA:84
HP:0040068	Abnormality of limb bone	55159	RFWD3	ORPHA:84
HP:0040068	Abnormality of limb bone	83990	BRIP1	ORPHA:84
HP:0040068	Abnormality of limb bone	57697	FANCM	ORPHA:84
HP:0040068	Abnormality of limb bone	79728	PALB2	ORPHA:84
HP:0040068	Abnormality of limb bone	84464	SLX4	ORPHA:84
HP:0040068	Abnormality of limb bone	2072	ERCC4	ORPHA:84
HP:0040068	Abnormality of limb bone	55215	FANCI	ORPHA:84
HP:0040068	Abnormality of limb bone	64093	SMOC1	ORPHA:1106
HP:0040068	Abnormality of limb bone	2261	FGFR3	OMIM:620192
HP:0040068	Abnormality of limb bone	2261	FGFR3	ORPHA:2363
HP:0040068	Abnormality of limb bone	23111	SPART	ORPHA:101000
HP:0040068	Abnormality of limb bone	25942	SIN3A	ORPHA:94065
HP:0040068	Abnormality of limb bone	1193	CLIC2	ORPHA:324410
HP:0040068	Abnormality of limb bone	860	RUNX2	ORPHA:1452
HP:0040068	Abnormality of limb bone	2255	FGF10	ORPHA:2363
HP:0040068	Abnormality of limb bone	6469	SHH	ORPHA:93321
HP:0040068	Abnormality of limb bone	57167	SALL4	ORPHA:233
HP:0040068	Abnormality of limb bone	57167	SALL4	ORPHA:959
HP:0040068	Abnormality of limb bone	57167	SALL4	ORPHA:2307
HP:0040068	Abnormality of limb bone	9935	MAFB	ORPHA:233
HP:0040068	Abnormality of limb bone	1123	CHN1	ORPHA:233
HP:0040068	Abnormality of limb bone	2137	EXTL3	ORPHA:508533
HP:0040068	Abnormality of limb bone	22827	PUF60	ORPHA:508498
HP:0040068	Abnormality of limb bone	65250	CPLANE1	OMIM:277170
HP:0040068	Abnormality of limb bone	6608	SMO	OMIM:601707
HP:0040068	Abnormality of limb bone	6608	SMO	ORPHA:1553
HP:0040068	Abnormality of limb bone	4750	NEK1	OMIM:263520
HP:0040068	Abnormality of limb bone	2737	GLI3	OMIM:175700
HP:0040068	Abnormality of limb bone	2737	GLI3	ORPHA:380
HP:0040068	Abnormality of limb bone	2737	GLI3	OMIM:174200
HP:0040068	Abnormality of limb bone	64327	LMBR1	ORPHA:2378
HP:0040068	Abnormality of limb bone	64327	LMBR1	OMIM:174500
HP:0040068	Abnormality of limb bone	55027	HEATR3	OMIM:620072
HP:0040068	Abnormality of limb bone	6299	SALL1	OMIM:107480
HP:0040068	Abnormality of limb bone	6299	SALL1	ORPHA:857
HP:0040068	Abnormality of limb bone	55112	DYNC2I1	ORPHA:93271
HP:0040068	Abnormality of limb bone	57560	IFT80	ORPHA:93271
HP:0040068	Abnormality of limb bone	57539	WDR35	ORPHA:93271
HP:0040068	Abnormality of limb bone	79659	DYNC2H1	ORPHA:93271
HP:0040068	Abnormality of limb bone	89891	DYNC2I2	ORPHA:93271
HP:0040068	Abnormality of limb bone	374879	ZNF699	OMIM:619488
HP:0040068	Abnormality of limb bone	374654	KIF7	OMIM:200990
HP:0040068	Abnormality of limb bone	8318	CDC45	OMIM:617063
HP:0040068	Abnormality of limb bone	51339	DACT1	ORPHA:857
HP:0040068	Abnormality of limb bone	2177	FANCD2	OMIM:227646
HP:0040068	Abnormality of limb bone	727857	BHLHA9	ORPHA:3329
HP:0040068	Abnormality of limb bone	23133	PHF8	ORPHA:85287
HP:0040068	Abnormality of limb bone	8481	OFD1	ORPHA:2750
HP:0040068	Abnormality of limb bone	219844	HYLS1	OMIM:236680
HP:0040068	Abnormality of limb bone	26123	TCTN3	ORPHA:2753
HP:0040068	Abnormality of limb bone	26123	TCTN3	ORPHA:564
HP:0040068	Abnormality of limb bone	2697	GJA1	ORPHA:2710
HP:0040068	Abnormality of limb bone	3239	HOXD13	ORPHA:887
HP:0040068	Abnormality of limb bone	7020	TFAP2A	OMIM:113620
HP:0040068	Abnormality of limb bone	7020	TFAP2A	ORPHA:1297
HP:0040068	Abnormality of limb bone	84314	TMEM107	ORPHA:564
HP:0040068	Abnormality of limb bone	79867	TCTN2	ORPHA:564
HP:0040068	Abnormality of limb bone	80776	B9D2	ORPHA:564
HP:0040068	Abnormality of limb bone	79600	TCTN1	ORPHA:564
HP:0040068	Abnormality of limb bone	57096	RPGRIP1	ORPHA:564
HP:0040068	Abnormality of limb bone	79848	CSPP1	ORPHA:564
HP:0040068	Abnormality of limb bone	80184	CEP290	ORPHA:564
HP:0040068	Abnormality of limb bone	51259	TMEM216	ORPHA:564
HP:0040068	Abnormality of limb bone	57545	CC2D2A	ORPHA:564
HP:0040068	Abnormality of limb bone	79583	TMEM231	ORPHA:564
HP:0040068	Abnormality of limb bone	91147	TMEM67	ORPHA:564
HP:0040068	Abnormality of limb bone	79770	TXNDC15	ORPHA:564
HP:0040068	Abnormality of limb bone	27077	B9D1	ORPHA:564
HP:0040068	Abnormality of limb bone	23322	RPGRIP1L	ORPHA:564
HP:0040068	Abnormality of limb bone	54903	MKS1	ORPHA:564
HP:0040068	Abnormality of limb bone	65062	TMEM237	ORPHA:564
HP:0040068	Abnormality of limb bone	10815	CPLX1	ORPHA:280
HP:0040068	Abnormality of limb bone	10815	CPLX1	OMIM:194190
HP:0040068	Abnormality of limb bone	54872	PIGG	ORPHA:280
HP:0040068	Abnormality of limb bone	7469	NELFA	ORPHA:280
HP:0040068	Abnormality of limb bone	1487	CTBP1	ORPHA:280
HP:0040068	Abnormality of limb bone	1487	CTBP1	OMIM:194190
HP:0040068	Abnormality of limb bone	3954	LETM1	ORPHA:280
HP:0040068	Abnormality of limb bone	3954	LETM1	OMIM:194190
HP:0040068	Abnormality of limb bone	7468	NSD2	ORPHA:280
HP:0040068	Abnormality of limb bone	7468	NSD2	OMIM:194190
HP:0040068	Abnormality of limb bone	2735	GLI1	OMIM:174400
HP:0040068	Abnormality of limb bone	53834	FGFRL1	OMIM:194190
HP:0040068	Abnormality of limb bone	9343	EFTUD2	OMIM:610536
HP:0040068	Abnormality of limb bone	9343	EFTUD2	ORPHA:79113
HP:0040068	Abnormality of limb bone	2263	FGFR2	OMIM:101200
HP:0040068	Abnormality of limb bone	157570	ESCO2	OMIM:268300
HP:0040068	Abnormality of limb bone	9401	RECQL4	ORPHA:1225
HP:0040068	Abnormality of limb bone	25836	NIPBL	OMIM:122470
HP:0040068	Abnormality of limb bone	6154	RPL26	OMIM:614900
HP:0040068	Abnormality of limb bone	10262	SF3B4	ORPHA:1788
HP:0040068	Abnormality of limb bone	1802	DPH2	OMIM:620062
HP:0040068	Abnormality of limb bone	91949	COG7	OMIM:608779
HP:0040068	Abnormality of limb bone	91949	COG7	ORPHA:79333
HP:0040068	Abnormality of limb bone	27238	GPKOW	ORPHA:2570
HP:0040068	Abnormality of limb bone	23141	ANKLE2	OMIM:616681
HP:0040068	Abnormality of limb bone	29895	MYL11	OMIM:619110
HP:0040068	Abnormality of limb bone	5393	EXOSC9	OMIM:618065
HP:0040068	Abnormality of limb bone	1861	TOR1A	OMIM:618947
HP:0040068	Abnormality of limb bone	55627	SMPD4	OMIM:618622
HP:0040068	Abnormality of limb bone	6804	STX1A	ORPHA:904
HP:0040068	Abnormality of limb bone	7461	CLIP2	ORPHA:904
HP:0040068	Abnormality of limb bone	84277	DNAJC30	ORPHA:904
HP:0040068	Abnormality of limb bone	8468	FKBP6	ORPHA:904
HP:0040068	Abnormality of limb bone	5982	RFC2	ORPHA:904
HP:0040068	Abnormality of limb bone	2969	GTF2I	ORPHA:904
HP:0040068	Abnormality of limb bone	3984	LIMK1	ORPHA:904
HP:0040068	Abnormality of limb bone	9569	GTF2IRD1	ORPHA:904
HP:0040068	Abnormality of limb bone	155382	VPS37D	ORPHA:904
HP:0040068	Abnormality of limb bone	155368	METTL27	ORPHA:904
HP:0040068	Abnormality of limb bone	114049	BUD23	ORPHA:904
HP:0040068	Abnormality of limb bone	7458	EIF4H	ORPHA:904
HP:0040068	Abnormality of limb bone	84163	GTF2IRD2	ORPHA:904
HP:0040068	Abnormality of limb bone	9275	BCL7B	ORPHA:904
HP:0040068	Abnormality of limb bone	26608	TBL2	ORPHA:904
HP:0040068	Abnormality of limb bone	653361	NCF1	ORPHA:904
HP:0040068	Abnormality of limb bone	135886	TMEM270	ORPHA:904
HP:0040068	Abnormality of limb bone	51085	MLXIPL	ORPHA:904
HP:0040068	Abnormality of limb bone	9031	BAZ1B	ORPHA:904
HP:0040068	Abnormality of limb bone	2006	ELN	ORPHA:904
HP:0040068	Abnormality of limb bone	2006	ELN	ORPHA:90348
HP:0040068	Abnormality of limb bone	5832	ALDH18A1	OMIM:616603
HP:0040068	Abnormality of limb bone	5832	ALDH18A1	OMIM:219150
HP:0040068	Abnormality of limb bone	5832	ALDH18A1	ORPHA:90348
HP:0040068	Abnormality of limb bone	347734	SLC35B2	OMIM:620269
HP:0040068	Abnormality of limb bone	23345	SYNE1	ORPHA:319332
HP:0040068	Abnormality of limb bone	23345	SYNE1	OMIM:618484
HP:0040068	Abnormality of limb bone	1291	COL6A1	ORPHA:75840
HP:0040068	Abnormality of limb bone	1292	COL6A2	ORPHA:75840
HP:0040068	Abnormality of limb bone	1293	COL6A3	ORPHA:75840
HP:0040068	Abnormality of limb bone	9839	ZEB2	ORPHA:261537
HP:0040068	Abnormality of limb bone	9839	ZEB2	ORPHA:261552
HP:0040068	Abnormality of limb bone	215	ABCD1	ORPHA:388
HP:0040068	Abnormality of limb bone	5979	RET	ORPHA:388
HP:0040068	Abnormality of limb bone	2668	GDNF	ORPHA:388
HP:0040068	Abnormality of limb bone	6720	SREBF1	ORPHA:388
HP:0040068	Abnormality of limb bone	1908	EDN3	ORPHA:388
HP:0040068	Abnormality of limb bone	223117	SEMA3D	ORPHA:388
HP:0040068	Abnormality of limb bone	538	ATP7A	ORPHA:388
HP:0040068	Abnormality of limb bone	1910	EDNRB	ORPHA:388
HP:0040068	Abnormality of limb bone	10512	SEMA3C	ORPHA:388
HP:0040068	Abnormality of limb bone	2064	ERBB2	ORPHA:388
HP:0040068	Abnormality of limb bone	2065	ERBB3	ORPHA:388
HP:0040068	Abnormality of limb bone	4902	NRTN	ORPHA:388
HP:0040068	Abnormality of limb bone	10479	SLC9A6	OMIM:300243
HP:0040068	Abnormality of limb bone	10479	SLC9A6	ORPHA:85278
HP:0040068	Abnormality of limb bone	91754	NEK9	OMIM:617022
HP:0040068	Abnormality of limb bone	5649	RELN	ORPHA:89844
HP:0040068	Abnormality of limb bone	54820	NDE1	ORPHA:89844
HP:0040068	Abnormality of limb bone	58	ACTA1	ORPHA:171430
HP:0040068	Abnormality of limb bone	4703	NEB	ORPHA:171430
HP:0040068	Abnormality of limb bone	4703	NEB	OMIM:619334
HP:0040068	Abnormality of limb bone	131377	KLHL40	ORPHA:171430
HP:0040068	Abnormality of limb bone	10324	KLHL41	ORPHA:171430
HP:0040068	Abnormality of limb bone	56203	LMOD3	ORPHA:171430
HP:0040068	Abnormality of limb bone	26227	PHGDH	OMIM:601815
HP:0040068	Abnormality of limb bone	26227	PHGDH	ORPHA:79351
HP:0040068	Abnormality of limb bone	84162	BLTP1	OMIM:617822
HP:0040068	Abnormality of limb bone	202018	TAPT1	OMIM:616897
HP:0040068	Abnormality of limb bone	2201	FBN2	OMIM:121050
HP:0040068	Abnormality of limb bone	91869	RFT1	OMIM:612015
HP:0040068	Abnormality of limb bone	2033	EP300	ORPHA:353284
HP:0040068	Abnormality of limb bone	4621	MYH3	OMIM:618436
HP:0040068	Abnormality of limb bone	4621	MYH3	OMIM:193700
HP:0040068	Abnormality of limb bone	4621	MYH3	ORPHA:1147
HP:0040068	Abnormality of limb bone	4621	MYH3	ORPHA:1146
HP:0040068	Abnormality of limb bone	3897	L1CAM	ORPHA:306617
HP:0040068	Abnormality of limb bone	3897	L1CAM	OMIM:303350
HP:0040068	Abnormality of limb bone	3897	L1CAM	OMIM:307000
HP:0040068	Abnormality of limb bone	3897	L1CAM	ORPHA:2182
HP:0040068	Abnormality of limb bone	388015	RTL1	ORPHA:96334
HP:0040068	Abnormality of limb bone	8788	DLK1	ORPHA:96334
HP:0040068	Abnormality of limb bone	55384	MEG3	ORPHA:96334
HP:0040068	Abnormality of limb bone	2067	ERCC1	OMIM:610758
HP:0040068	Abnormality of limb bone	9179	AP4M1	OMIM:612936
HP:0040068	Abnormality of limb bone	7169	TPM2	OMIM:108120
HP:0040068	Abnormality of limb bone	7169	TPM2	ORPHA:1147
HP:0040068	Abnormality of limb bone	7169	TPM2	ORPHA:1146
HP:0040068	Abnormality of limb bone	126792	B3GALT6	ORPHA:536467
HP:0040068	Abnormality of limb bone	50515	CHST11	OMIM:618167
HP:0040068	Abnormality of limb bone	79868	ALG13	ORPHA:324422
HP:0040068	Abnormality of limb bone	259232	NALCN	OMIM:616266
HP:0040068	Abnormality of limb bone	259232	NALCN	ORPHA:1147
HP:0040068	Abnormality of limb bone	259232	NALCN	ORPHA:1146
HP:0040068	Abnormality of limb bone	23483	TGDS	OMIM:616145
HP:0040068	Abnormality of limb bone	729920	CRPPA	OMIM:614643
HP:0040068	Abnormality of limb bone	7136	TNNI2	ORPHA:1147
HP:0040068	Abnormality of limb bone	7136	TNNI2	ORPHA:1146
HP:0040068	Abnormality of limb bone	10273	STUB1	ORPHA:412057
HP:0040068	Abnormality of limb bone	1387	CREBBP	ORPHA:353277
HP:0040068	Abnormality of limb bone	4604	MYBPC1	ORPHA:1146
HP:0040068	Abnormality of limb bone	10516	FBLN5	ORPHA:90348
HP:0040068	Abnormality of limb bone	57211	ADGRG6	OMIM:616503
HP:0040068	Abnormality of limb bone	9939	RBM8A	ORPHA:3320
HP:0040068	Abnormality of limb bone	9939	RBM8A	OMIM:274000
HP:0040068	Abnormality of limb bone	23299	BICD2	OMIM:618291
HP:0040068	Abnormality of limb bone	10195	ALG3	OMIM:601110
HP:0040068	Abnormality of limb bone	10943	MSL3	OMIM:301032
HP:0040068	Abnormality of limb bone	3977	LIFR	OMIM:601559
HP:0040068	Abnormality of limb bone	9427	ECEL1	OMIM:615065
HP:0040068	Abnormality of limb bone	6999	TDO2	OMIM:600627
HP:0040068	Abnormality of limb bone	84896	ATAD1	OMIM:618011
HP:0040068	Abnormality of limb bone	2036	EPB41L1	OMIM:614257
HP:0040068	Abnormality of limb bone	51002	TPRKB	ORPHA:2065
HP:0040068	Abnormality of limb bone	84942	WDR73	ORPHA:2065
HP:0040068	Abnormality of limb bone	55644	OSGEP	ORPHA:2065
HP:0040068	Abnormality of limb bone	57122	NUP107	ORPHA:2065
HP:0040068	Abnormality of limb bone	10785	WDR4	ORPHA:2065
HP:0040068	Abnormality of limb bone	55746	NUP133	ORPHA:2065
HP:0040068	Abnormality of limb bone	8270	LAGE3	ORPHA:2065
HP:0040068	Abnormality of limb bone	8367	H4C5	OMIM:619950
HP:0040068	Abnormality of limb bone	9853	RUSC2	OMIM:617773
HP:0040068	Abnormality of limb bone	23019	CNOT1	OMIM:619033
HP:0040068	Abnormality of limb bone	26128	KIFBP	OMIM:609460
HP:0040068	Abnormality of limb bone	2972	BRF1	OMIM:616202
HP:0040068	Abnormality of limb bone	2972	BRF1	ORPHA:444072
HP:0040068	Abnormality of limb bone	56916	SMARCAD1	OMIM:129200
HP:0040068	Abnormality of limb bone	56916	SMARCAD1	OMIM:181600
HP:0040068	Abnormality of limb bone	9578	CDC42BPB	OMIM:619841
HP:0040068	Abnormality of limb bone	3020	H3-3A	OMIM:619720
HP:0040068	Abnormality of limb bone	170302	ARX	OMIM:300004
HP:0040068	Abnormality of limb bone	3021	H3-3B	OMIM:619721
HP:0040068	Abnormality of limb bone	10300	KATNB1	OMIM:616212
HP:0040068	Abnormality of limb bone	2624	GATA2	OMIM:614038
HP:0040068	Abnormality of limb bone	55904	KMT2E	OMIM:618512
HP:0040068	Abnormality of limb bone	10978	CLP1	OMIM:615803
HP:0040068	Abnormality of limb bone	55650	PIGV	OMIM:239300
HP:0040068	Abnormality of limb bone	6335	SCN9A	ORPHA:970
HP:0040068	Abnormality of limb bone	65125	WNK1	ORPHA:970
HP:0040068	Abnormality of limb bone	54463	RETREG1	ORPHA:970
HP:0040068	Abnormality of limb bone	547	KIF1A	ORPHA:970
HP:0040068	Abnormality of limb bone	547	KIF1A	ORPHA:2836
HP:0040068	Abnormality of limb bone	6595	SMARCA2	OMIM:619293
HP:0040068	Abnormality of limb bone	80204	FBXO11	OMIM:618089
HP:0040068	Abnormality of limb bone	113189	CHST14	ORPHA:2953
HP:0040068	Abnormality of limb bone	29940	DSE	ORPHA:2953
HP:0040068	Abnormality of limb bone	1889	ECE1	OMIM:613870
HP:0040068	Abnormality of limb bone	9326	ZNHIT3	ORPHA:2836
HP:0040068	Abnormality of limb bone	9326	ZNHIT3	OMIM:260565
HP:0040068	Abnormality of limb bone	2770	GNAI1	OMIM:619854
HP:0040068	Abnormality of limb bone	83550	GPR101	ORPHA:963
HP:0040068	Abnormality of limb bone	9049	AIP	ORPHA:963
HP:0040068	Abnormality of limb bone	157680	VPS13B	OMIM:216550
HP:0040068	Abnormality of limb bone	157680	VPS13B	ORPHA:193
HP:0040068	Abnormality of limb bone	2626	GATA4	ORPHA:251071
HP:0040068	Abnormality of limb bone	84823	LMNB2	OMIM:619180
HP:0040068	Abnormality of limb bone	9896	FIG4	ORPHA:3472
HP:0040068	Abnormality of limb bone	9896	FIG4	OMIM:216340
HP:0040068	Abnormality of limb bone	55697	VAC14	ORPHA:3472
HP:0040068	Abnormality of limb bone	6792	CDKL5	OMIM:300672
HP:0040068	Abnormality of limb bone	7025	NR2F1	ORPHA:401777
HP:0040068	Abnormality of limb bone	7025	NR2F1	OMIM:615722
HP:0040068	Abnormality of limb bone	253738	EBF3	OMIM:617330
HP:0040068	Abnormality of limb bone	55699	IARS2	OMIM:616007
HP:0040068	Abnormality of limb bone	8239	USP9X	ORPHA:480880
HP:0040068	Abnormality of limb bone	8239	USP9X	OMIM:300968
HP:0040068	Abnormality of limb bone	285175	UNC80	OMIM:616801
HP:0040068	Abnormality of limb bone	79753	SNIP1	OMIM:614501
HP:0040068	Abnormality of limb bone	6134	RPL10	ORPHA:459070
HP:0040068	Abnormality of limb bone	6134	RPL10	OMIM:300998
HP:0040068	Abnormality of limb bone	6134	RPL10	ORPHA:435938
HP:0040068	Abnormality of limb bone	1859	DYRK1A	ORPHA:464311
HP:0040068	Abnormality of limb bone	1859	DYRK1A	ORPHA:268261
HP:0040068	Abnormality of limb bone	1303	COL12A1	ORPHA:536516
HP:0040068	Abnormality of limb bone	51611	DPH5	OMIM:620070
HP:0040068	Abnormality of limb bone	79813	EHMT1	ORPHA:261652
HP:0040068	Abnormality of limb bone	58508	KMT2C	ORPHA:261652
HP:0040068	Abnormality of limb bone	4094	MAF	ORPHA:1272
HP:0040068	Abnormality of limb bone	4094	MAF	OMIM:601088
HP:0040068	Abnormality of limb bone	7750	ZMYM2	OMIM:619522
HP:0040068	Abnormality of limb bone	5594	MAPK1	OMIM:619087
HP:0040068	Abnormality of limb bone	4849	CNOT3	OMIM:618672
HP:0040068	Abnormality of limb bone	6942	TCF20	OMIM:618430
HP:0040068	Abnormality of limb bone	81887	LAS1L	ORPHA:3459
HP:0040068	Abnormality of limb bone	81887	LAS1L	OMIM:309585
HP:0040068	Abnormality of limb bone	55869	HDAC8	ORPHA:3459
HP:0040068	Abnormality of limb bone	7140	TNNT3	OMIM:618435
HP:0040068	Abnormality of limb bone	6925	TCF4	OMIM:610954
HP:0040068	Abnormality of limb bone	6925	TCF4	ORPHA:2896
HP:0040068	Abnormality of limb bone	7030	TFE3	OMIM:301066
HP:0040068	Abnormality of limb bone	546	ATRX	OMIM:309580
HP:0040068	Abnormality of limb bone	546	ATRX	OMIM:301040
HP:0040068	Abnormality of limb bone	84295	PHF6	ORPHA:127
HP:0040068	Abnormality of limb bone	84295	PHF6	OMIM:301900
HP:0040068	Abnormality of limb bone	91252	SLC39A13	ORPHA:157965
HP:0040068	Abnormality of limb bone	91252	SLC39A13	OMIM:612350
HP:0040068	Abnormality of limb bone	171023	ASXL1	OMIM:605039
HP:0040068	Abnormality of limb bone	22907	DHX30	OMIM:617804
HP:0040068	Abnormality of limb bone	9230	RAB11B	OMIM:617807
HP:0040068	Abnormality of limb bone	5277	PIGA	OMIM:301072
HP:0040068	Abnormality of limb bone	389827	MYMK	OMIM:254940
HP:0040068	Abnormality of limb bone	10075	HUWE1	OMIM:309590
HP:0040068	Abnormality of limb bone	9488	PIGB	OMIM:618580
HP:0040068	Abnormality of limb bone	8243	SMC1A	OMIM:301044
HP:0040068	Abnormality of limb bone	23013	SPEN	OMIM:619312
HP:0040068	Abnormality of limb bone	56896	DPYSL5	OMIM:619435
HP:0040068	Abnormality of limb bone	9698	PUM1	OMIM:617931
HP:0040068	Abnormality of limb bone	23028	KDM1A	OMIM:616728
HP:0040068	Abnormality of limb bone	23028	KDM1A	ORPHA:477993
HP:0040068	Abnormality of limb bone	5575	PRKAR1B	OMIM:619680
HP:0040068	Abnormality of limb bone	91179	SCARF2	OMIM:600920
HP:0040068	Abnormality of limb bone	6492	SIM1	ORPHA:171829
HP:0040068	Abnormality of limb bone	2782	GNB1	OMIM:616973
HP:0040068	Abnormality of limb bone	4953	ODC1	ORPHA:544488
HP:0040068	Abnormality of limb bone	998	CDC42	OMIM:616737
HP:0040068	Abnormality of limb bone	998	CDC42	ORPHA:487796
HP:0040068	Abnormality of limb bone	3097	HIVEP2	OMIM:616977
HP:0040068	Abnormality of limb bone	4131	MAP1B	OMIM:618918
HP:0040068	Abnormality of limb bone	56915	EXOSC5	OMIM:619576
HP:0040068	Abnormality of limb bone	10588	MTHFS	OMIM:618367
HP:0040068	Abnormality of limb bone	63035	BCORL1	OMIM:301029
HP:0040068	Abnormality of limb bone	10265	IRX5	OMIM:611174
HP:0040068	Abnormality of limb bone	1108	CHD4	OMIM:617159
HP:0040068	Abnormality of limb bone	91137	SLC25A46	OMIM:616505
HP:0040068	Abnormality of limb bone	8604	SLC25A12	OMIM:612949
HP:0040068	Abnormality of limb bone	7703	PCGF2	OMIM:618371
HP:0040068	Abnormality of limb bone	83696	TRAPPC9	ORPHA:352530
HP:0040068	Abnormality of limb bone	92949	ADAMTSL1	ORPHA:521445
HP:0040068	Abnormality of limb bone	54551	MAGEL2	OMIM:615547
HP:0040068	Abnormality of limb bone	2707	GJB3	ORPHA:317
HP:0040068	Abnormality of limb bone	2531	KDSR	ORPHA:317
HP:0040068	Abnormality of limb bone	127534	GJB4	ORPHA:317
HP:0040068	Abnormality of limb bone	9244	CRLF1	OMIM:272430
HP:0040068	Abnormality of limb bone	8812	CCNK	OMIM:618147
HP:0040068	Abnormality of limb bone	112858	TP53RK	OMIM:617730
HP:0040068	Abnormality of limb bone	80036	TRPM3	OMIM:620224
HP:0040068	Abnormality of limb bone	8936	WASF1	OMIM:618707
HP:0040068	Abnormality of limb bone	8405	SPOP	OMIM:618829
HP:0040068	Abnormality of limb bone	23630	KCNE5	ORPHA:86818
HP:0040068	Abnormality of limb bone	2182	ACSL4	ORPHA:86818
HP:0040068	Abnormality of limb bone	9949	AMMECR1	ORPHA:86818
HP:0040068	Abnormality of limb bone	11198	SUPT16H	OMIM:619480
HP:0040068	Abnormality of limb bone	23556	PIGN	ORPHA:280633
HP:0040068	Abnormality of limb bone	23067	SETD1B	OMIM:619000
HP:0040068	Abnormality of limb bone	23233	EXOC6B	OMIM:618395
HP:0040068	Abnormality of limb bone	5075	PAX1	OMIM:615560
HP:0040068	Abnormality of limb bone	55704	CCDC88A	OMIM:617507
HP:0040068	Abnormality of limb bone	1376	CPT2	OMIM:608836
HP:0040068	Abnormality of limb bone	8242	KDM5C	ORPHA:85279
HP:0040068	Abnormality of limb bone	1315	COPB1	OMIM:619255
HP:0040068	Abnormality of limb bone	51317	PHF21A	OMIM:618725
HP:0040068	Abnormality of limb bone	1968	EIF2S3	ORPHA:85282
HP:0040068	Abnormality of limb bone	5557	PRIM1	OMIM:620005
HP:0040068	Abnormality of limb bone	1795	DOCK3	OMIM:618292
HP:0040068	Abnormality of limb bone	3636	INPPL1	ORPHA:2746
HP:0040068	Abnormality of limb bone	4654	MYOD1	OMIM:618975
HP:0040068	Abnormality of limb bone	11342	RNF13	ORPHA:544503
HP:0040068	Abnormality of limb bone	6197	RPS6KA3	OMIM:303600
HP:0040068	Abnormality of limb bone	9791	PTDSS1	OMIM:151050
HP:0040068	Abnormality of limb bone	2245	FGD1	OMIM:305400
HP:0040068	Abnormality of limb bone	9759	HDAC4	OMIM:619797
HP:0040068	Abnormality of limb bone	3756	KCNH1	OMIM:135500
HP:0040068	Abnormality of limb bone	57479	PRR12	OMIM:619539
HP:0040068	Abnormality of limb bone	6611	SMS	OMIM:309583
HP:0040068	Abnormality of limb bone	673	BRAF	OMIM:115150
HP:0040068	Abnormality of limb bone	91461	PKDCC	OMIM:618821
HP:0040068	Abnormality of limb bone	92344	GORAB	OMIM:231070
HP:0040068	Abnormality of limb bone	54499	TMCO1	OMIM:213980
HP:0040068	Abnormality of limb bone	387733	IFITM5	OMIM:610967
HP:0040068	Abnormality of limb bone	51633	OTUD6B	ORPHA:505237
HP:0040068	Abnormality of limb bone	23114	NFASC	OMIM:618356
HP:0040068	Abnormality of limb bone	1289	COL5A1	OMIM:130000
HP:0040068	Abnormality of limb bone	1278	COL1A2	OMIM:617821
HP:0040068	Abnormality of limb bone	427	ASAH1	OMIM:228000
HP:0040068	Abnormality of limb bone	9373	PLAA	ORPHA:521426
HP:0040068	Abnormality of limb bone	2783	GNB2	OMIM:619503
HP:0040068	Abnormality of limb bone	3265	HRAS	OMIM:218040
HP:0040068	Abnormality of limb bone	2200	FBN1	OMIM:616914
HP:0040068	Abnormality of limb bone	121340	SP7	OMIM:613849
HP:0040068	Abnormality of limb bone	3782	KCNN3	OMIM:618658
HP:0040068	Abnormality of limb bone	5063	PAK3	OMIM:300558
HP:0040068	Abnormality of limb bone	6228	RPS23	OMIM:617412
HP:0040068	Abnormality of limb bone	23065	EMC1	ORPHA:480898
HP:0040068	Abnormality of limb bone	23065	EMC1	OMIM:616875
HP:0040068	Abnormality of limb bone	1105	CHD1	OMIM:617682
HP:0040068	Abnormality of limb bone	94	ACVRL1	OMIM:600376
HP:0040068	Abnormality of limb bone	6340	SCNN1G	ORPHA:60033
HP:0040068	Abnormality of limb bone	1080	CFTR	ORPHA:60033
HP:0040068	Abnormality of limb bone	6337	SCNN1A	ORPHA:60033
HP:0040068	Abnormality of limb bone	6338	SCNN1B	ORPHA:60033
HP:0040068	Abnormality of limb bone	3123	HLA-DRB1	ORPHA:747
HP:0040068	Abnormality of limb bone	3123	HLA-DRB1	OMIM:181000
HP:0040068	Abnormality of limb bone	6440	SFTPC	OMIM:610913
HP:0040068	Abnormality of limb bone	6439	SFTPB	OMIM:265120
HP:0040068	Abnormality of limb bone	2022	ENG	OMIM:187300
HP:0040068	Abnormality of limb bone	653509	SFTPA1	OMIM:619611
HP:0040068	Abnormality of limb bone	6578	SLCO2A1	OMIM:614441
HP:0040068	Abnormality of limb bone	738	VPS51	OMIM:618606
HP:0040068	Abnormality of limb bone	56244	BTNL2	OMIM:612387
HP:0040068	Abnormality of limb bone	6794	STK11	OMIM:175200
HP:0040068	Abnormality of limb bone	404672	GTF2H5	ORPHA:33364
HP:0040068	Abnormality of limb bone	833	CARS1	ORPHA:33364
HP:0040068	Abnormality of limb bone	7737	RNF113A	ORPHA:33364
HP:0040068	Abnormality of limb bone	136647	MPLKIP	ORPHA:33364
HP:0040068	Abnormality of limb bone	6897	TARS1	ORPHA:33364
HP:0040068	Abnormality of limb bone	2071	ERCC3	ORPHA:33364
HP:0040068	Abnormality of limb bone	2961	GTF2E2	ORPHA:33364
HP:0040068	Abnormality of limb bone	21	ABCA3	OMIM:610921
HP:0040068	Abnormality of limb bone	3858	KRT10	OMIM:609165
HP:0040068	Abnormality of limb bone	25981	DNAH1	ORPHA:244
HP:0040068	Abnormality of limb bone	115948	ODAD3	ORPHA:244
HP:0040068	Abnormality of limb bone	54768	HYDIN	ORPHA:244
HP:0040068	Abnormality of limb bone	352909	DNAAF3	ORPHA:244
HP:0040068	Abnormality of limb bone	27148	STK36	ORPHA:244
HP:0040068	Abnormality of limb bone	51314	NME8	ORPHA:244
HP:0040068	Abnormality of limb bone	92749	DRC1	ORPHA:244
HP:0040068	Abnormality of limb bone	54970	TTC12	ORPHA:244
HP:0040068	Abnormality of limb bone	152110	NEK10	ORPHA:244
HP:0040068	Abnormality of limb bone	2302	FOXJ1	ORPHA:244
HP:0040068	Abnormality of limb bone	221421	RSPH9	ORPHA:244
HP:0040068	Abnormality of limb bone	85478	CCDC65	ORPHA:244
HP:0040068	Abnormality of limb bone	55036	CCDC40	ORPHA:244
HP:0040068	Abnormality of limb bone	51364	ZMYND10	ORPHA:244
HP:0040068	Abnormality of limb bone	64446	DNAI2	ORPHA:244
HP:0040068	Abnormality of limb bone	6674	SPAG1	ORPHA:244
HP:0040068	Abnormality of limb bone	83544	DNAL1	ORPHA:244
HP:0040068	Abnormality of limb bone	89765	RSPH1	ORPHA:244
HP:0040068	Abnormality of limb bone	83538	ODAD4	ORPHA:244
HP:0040068	Abnormality of limb bone	200373	CFAP221	ORPHA:244
HP:0040068	Abnormality of limb bone	374407	DNAJB13	ORPHA:244
HP:0040068	Abnormality of limb bone	55172	DNAAF2	ORPHA:244
HP:0040068	Abnormality of limb bone	161582	DNAAF4	ORPHA:244
HP:0040068	Abnormality of limb bone	2622	GAS8	ORPHA:244
HP:0040068	Abnormality of limb bone	23639	DNAAF11	ORPHA:244
HP:0040068	Abnormality of limb bone	27019	DNAI1	ORPHA:244
HP:0040068	Abnormality of limb bone	345895	RSPH4A	ORPHA:244
HP:0040068	Abnormality of limb bone	54919	DNAAF5	ORPHA:244
HP:0040068	Abnormality of limb bone	6103	RPGR	ORPHA:244
HP:0040068	Abnormality of limb bone	388389	CCDC103	ORPHA:244
HP:0040068	Abnormality of limb bone	93233	ODAD1	ORPHA:244
HP:0040068	Abnormality of limb bone	55130	ODAD2	ORPHA:244
HP:0040068	Abnormality of limb bone	1767	DNAH5	ORPHA:244
HP:0040068	Abnormality of limb bone	83861	RSPH3	ORPHA:244
HP:0040068	Abnormality of limb bone	345643	MCIDAS	ORPHA:244
HP:0040068	Abnormality of limb bone	56683	CFAP298	ORPHA:244
HP:0040068	Abnormality of limb bone	79925	SPEF2	ORPHA:244
HP:0040068	Abnormality of limb bone	10309	CCNO	ORPHA:244
HP:0040068	Abnormality of limb bone	115399	LRRC56	ORPHA:244
HP:0040068	Abnormality of limb bone	139212	DNAAF6	ORPHA:244
HP:0040068	Abnormality of limb bone	123872	DNAAF1	ORPHA:244
HP:0040068	Abnormality of limb bone	85016	CFAP300	ORPHA:244
HP:0040068	Abnormality of limb bone	339829	CCDC39	ORPHA:244
HP:0040068	Abnormality of limb bone	8701	DNAH11	ORPHA:244
HP:0040068	Abnormality of limb bone	1770	DNAH9	ORPHA:244
HP:0040068	Abnormality of limb bone	246176	GAS2L2	ORPHA:244
HP:0040068	Abnormality of limb bone	1604	CD55	OMIM:226300
HP:0040068	Abnormality of limb bone	10892	MALT1	OMIM:615468
HP:0040068	Abnormality of limb bone	7317	UBA1	ORPHA:1145
HP:0040068	Abnormality of limb bone	3868	KRT16	ORPHA:2199
HP:0040068	Abnormality of limb bone	3857	KRT9	ORPHA:2199
HP:0040068	Abnormality of limb bone	3848	KRT1	ORPHA:2199
HP:0040068	Abnormality of limb bone	3861	KRT14	ORPHA:69087
HP:0040068	Abnormality of limb bone	4323	MMP14	ORPHA:371428
HP:0040068	Abnormality of limb bone	4323	MMP14	OMIM:277950
HP:0040068	Abnormality of limb bone	79796	ALG9	ORPHA:79328
HP:0040068	Abnormality of limb bone	3955	LFNG	OMIM:609813
HP:0040068	Abnormality of limb bone	10525	HYOU1	OMIM:233600
HP:0040068	Abnormality of limb bone	1499	CTNNB1	OMIM:615075
HP:0040068	Abnormality of limb bone	9181	ARHGEF2	OMIM:617523
HP:0040068	Abnormality of limb bone	3248	HPGD	ORPHA:217059
HP:0040068	Abnormality of limb bone	3736	KCNA1	ORPHA:1934
HP:0040068	Abnormality of limb bone	9091	PIGQ	ORPHA:1934
HP:0040068	Abnormality of limb bone	2775	GNAO1	ORPHA:1934
HP:0040068	Abnormality of limb bone	81603	TRIM8	ORPHA:1934
HP:0040068	Abnormality of limb bone	2902	GRIN1	ORPHA:1934
HP:0040068	Abnormality of limb bone	79751	SLC25A22	ORPHA:1934
HP:0040068	Abnormality of limb bone	150094	SIK1	ORPHA:1934
HP:0040068	Abnormality of limb bone	8573	CASK	ORPHA:1934
HP:0040068	Abnormality of limb bone	23312	DMXL2	ORPHA:1934
HP:0040068	Abnormality of limb bone	2917	GRM7	ORPHA:1934
HP:0040068	Abnormality of limb bone	11284	PNKP	ORPHA:1934
HP:0040068	Abnormality of limb bone	6326	SCN2A	ORPHA:1934
HP:0040068	Abnormality of limb bone	51227	PIGP	ORPHA:1934
HP:0040068	Abnormality of limb bone	6324	SCN1B	ORPHA:1934
HP:0040068	Abnormality of limb bone	4761	NEUROD2	ORPHA:1934
HP:0040068	Abnormality of limb bone	65260	COA7	OMIM:618387
HP:0040068	Abnormality of limb bone	127833	SYT2	OMIM:616040
HP:0040068	Abnormality of limb bone	112	ADCY6	OMIM:616287
HP:0040068	Abnormality of limb bone	7415	VCP	ORPHA:435387
HP:0040068	Abnormality of limb bone	7415	VCP	OMIM:616687
HP:0040068	Abnormality of limb bone	9927	MFN2	OMIM:609260
HP:0040068	Abnormality of limb bone	50717	DCAF8	OMIM:610100
HP:0040068	Abnormality of limb bone	2617	GARS1	ORPHA:139536
HP:0040068	Abnormality of limb bone	2617	GARS1	OMIM:600794
HP:0040068	Abnormality of limb bone	2617	GARS1	OMIM:601472
HP:0040068	Abnormality of limb bone	65055	REEP1	ORPHA:139536
HP:0040068	Abnormality of limb bone	7879	RAB7A	OMIM:600882
HP:0040068	Abnormality of limb bone	5375	PMP2	OMIM:618279
HP:0040068	Abnormality of limb bone	23095	KIF1B	OMIM:118210
HP:0040068	Abnormality of limb bone	8566	PDXK	OMIM:618511
HP:0040068	Abnormality of limb bone	400916	CHCHD10	OMIM:615048
HP:0040068	Abnormality of limb bone	3035	HARS1	ORPHA:488333
HP:0040068	Abnormality of limb bone	3035	HARS1	OMIM:616625
HP:0040068	Abnormality of limb bone	90678	LRSAM1	OMIM:614436
HP:0040068	Abnormality of limb bone	11261	CHP1	OMIM:618438
HP:0040068	Abnormality of limb bone	3710	ITPR3	OMIM:620111
HP:0040068	Abnormality of limb bone	10280	SIGMAR1	OMIM:605726
HP:0040068	Abnormality of limb bone	4358	MPV17	OMIM:618400
HP:0040068	Abnormality of limb bone	57449	PLEKHG5	OMIM:615376
HP:0040068	Abnormality of limb bone	79628	SH3TC2	OMIM:601596
HP:0040068	Abnormality of limb bone	79628	SH3TC2	ORPHA:99949
HP:0040068	Abnormality of limb bone	59345	GNB4	OMIM:615185
HP:0040068	Abnormality of limb bone	64423	INF2	OMIM:614455
HP:0040068	Abnormality of limb bone	16	AARS1	OMIM:613287
HP:0040068	Abnormality of limb bone	168667	BMPER	OMIM:608022
HP:0040068	Abnormality of limb bone	8729	GBF1	OMIM:606483
HP:0040068	Abnormality of limb bone	26235	FBXL4	OMIM:615471
HP:0040068	Abnormality of limb bone	22854	NTNG1	ORPHA:3095
HP:0040068	Abnormality of limb bone	9568	GABBR2	ORPHA:3095
HP:0040068	Abnormality of limb bone	9568	GABBR2	OMIM:617903
HP:0040068	Abnormality of limb bone	4948	OCA2	ORPHA:177904
HP:0040068	Abnormality of limb bone	4948	OCA2	ORPHA:177901
HP:0040068	Abnormality of limb bone	4948	OCA2	ORPHA:98754
HP:0040068	Abnormality of limb bone	2590	GALNT2	OMIM:618885
HP:0040068	Abnormality of limb bone	3064	HTT	OMIM:617435
HP:0040068	Abnormality of limb bone	6045	RNF2	OMIM:619460
HP:0040068	Abnormality of limb bone	3800	KIF5C	OMIM:615282
HP:0040068	Abnormality of limb bone	9130	FAM50A	OMIM:300261
HP:0040068	Abnormality of limb bone	6567	SLC16A2	OMIM:300523
HP:0040068	Abnormality of limb bone	27031	NPHP3	OMIM:267010
HP:0040068	Abnormality of limb bone	242	ALOX12B	OMIM:242100
HP:0040068	Abnormality of limb bone	59344	ALOXE3	OMIM:242100
HP:0040068	Abnormality of limb bone	5896	RAG1	ORPHA:39041
HP:0040068	Abnormality of limb bone	5897	RAG2	ORPHA:39041
HP:0040068	Abnormality of limb bone	64421	DCLRE1C	ORPHA:39041
HP:0040068	Abnormality of limb bone	3575	IL7R	ORPHA:39041
HP:0040068	Abnormality of limb bone	3561	IL2RG	ORPHA:39041
HP:0040068	Abnormality of limb bone	3039	HBA1	ORPHA:98791
HP:0040068	Abnormality of limb bone	3040	HBA2	ORPHA:98791
HP:0040068	Abnormality of limb bone	23265	EXOC7	OMIM:619072
HP:0040068	Abnormality of limb bone	9928	KIF14	OMIM:616258
HP:0040068	Abnormality of limb bone	2733	GLE1	OMIM:611890
HP:0040068	Abnormality of limb bone	55681	SCYL2	ORPHA:1143
HP:0040068	Abnormality of limb bone	55681	SCYL2	OMIM:618766
HP:0040068	Abnormality of limb bone	84570	COL25A1	ORPHA:1143
HP:0040068	Abnormality of limb bone	57222	ERGIC1	ORPHA:1143
HP:0040068	Abnormality of limb bone	91647	ATPAF2	OMIM:604273
HP:0040068	Abnormality of limb bone	5828	PEX2	OMIM:614866
HP:0040068	Abnormality of limb bone	80232	WDR26	ORPHA:513456
HP:0040068	Abnormality of limb bone	1718	DHCR24	ORPHA:35107
HP:0040068	Abnormality of limb bone	118987	PDZD8	OMIM:620021
HP:0040068	Abnormality of limb bone	79228	THOC6	ORPHA:363444
HP:0040068	Abnormality of limb bone	6647	SOD1	OMIM:618598
HP:0040068	Abnormality of limb bone	6536	SLC6A9	OMIM:617301
HP:0040068	Abnormality of limb bone	54916	TMEM260	OMIM:617478
HP:0040068	Abnormality of limb bone	26173	INTS1	OMIM:618571
HP:0040068	Abnormality of limb bone	55656	INTS8	OMIM:618572
HP:0040068	Abnormality of limb bone	529	ATP6V1E1	OMIM:617402
HP:0040068	Abnormality of limb bone	10159	ATP6AP2	ORPHA:93952
HP:0040068	Abnormality of limb bone	8425	LTBP4	OMIM:613177
HP:0040068	Abnormality of limb bone	1349	COX7B	OMIM:300887
HP:0040068	Abnormality of limb bone	6049	RNF6	ORPHA:99977
HP:0040068	Abnormality of limb bone	51741	WWOX	ORPHA:99977
HP:0040068	Abnormality of limb bone	9940	DLEC1	ORPHA:99977
HP:0040068	Abnormality of limb bone	2643	GCH1	ORPHA:98808
HP:0040068	Abnormality of limb bone	4929	NR4A2	ORPHA:98808
HP:0040068	Abnormality of limb bone	3615	IMPDH2	ORPHA:98808
HP:0040068	Abnormality of limb bone	3315	HSPB1	OMIM:608634
HP:0040068	Abnormality of limb bone	26353	HSPB8	OMIM:158590
HP:0040068	Abnormality of limb bone	4897	NRCAM	OMIM:619833
HP:0040068	Abnormality of limb bone	2517	FUCA1	OMIM:230000
HP:0040068	Abnormality of limb bone	2335	FN1	OMIM:184255
HP:0040068	Abnormality of limb bone	2335	FN1	ORPHA:93315
HP:0040068	Abnormality of limb bone	65992	DDRGK1	OMIM:602557
HP:0040068	Abnormality of limb bone	755	CFAP410	OMIM:602271
HP:0040068	Abnormality of limb bone	5176	SERPINF1	OMIM:613982
HP:0040068	Abnormality of limb bone	10216	PRG4	ORPHA:2848
HP:0040068	Abnormality of limb bone	10216	PRG4	OMIM:208250
HP:0040068	Abnormality of limb bone	60681	FKBP10	OMIM:259450
HP:0040068	Abnormality of limb bone	60681	FKBP10	OMIM:610968
HP:0040068	Abnormality of limb bone	1299	COL9A3	ORPHA:166002
HP:0040068	Abnormality of limb bone	11014	KDELR2	OMIM:619131
HP:0040068	Abnormality of limb bone	23545	ATP6V0A2	ORPHA:2834
HP:0040068	Abnormality of limb bone	23545	ATP6V0A2	OMIM:278250
HP:0040068	Abnormality of limb bone	10491	CRTAP	OMIM:610682
HP:0040068	Abnormality of limb bone	6137	RPL13	OMIM:618728
HP:0040068	Abnormality of limb bone	9509	ADAMTS2	ORPHA:1901
HP:0040068	Abnormality of limb bone	5830	PEX5	OMIM:616716
HP:0040068	Abnormality of limb bone	1277	COL1A1	ORPHA:1899
HP:0040068	Abnormality of limb bone	10082	GPC6	ORPHA:93329
HP:0040068	Abnormality of limb bone	7040	TGFB1	ORPHA:1328
HP:0040068	Abnormality of limb bone	6916	TBXAS1	ORPHA:1802
HP:0040068	Abnormality of limb bone	2717	GLA	ORPHA:324
HP:0040068	Abnormality of limb bone	1497	CTNS	OMIM:219800
HP:0040068	Abnormality of limb bone	7421	VDR	ORPHA:93160
HP:0040068	Abnormality of limb bone	51256	TBC1D7	OMIM:248000
HP:0040068	Abnormality of limb bone	7360	UGP2	OMIM:618744
HP:0040068	Abnormality of limb bone	4125	MAN2B1	ORPHA:309282
HP:0040068	Abnormality of limb bone	1073	CFL2	ORPHA:171436
HP:0040068	Abnormality of limb bone	815	CAMK2A	OMIM:617798
HP:0040068	Abnormality of limb bone	10381	TUBB3	ORPHA:300570
HP:0040068	Abnormality of limb bone	83480	PUS3	ORPHA:488627
HP:0040068	Abnormality of limb bone	4763	NF1	ORPHA:363700
HP:0040068	Abnormality of limb bone	4763	NF1	OMIM:162200
HP:0040068	Abnormality of limb bone	3425	IDUA	OMIM:607016
HP:0040068	Abnormality of limb bone	1588	CYP19A1	ORPHA:91
HP:0040068	Abnormality of limb bone	9653	HS2ST1	OMIM:619194
HP:0040068	Abnormality of limb bone	3043	HBB	ORPHA:231214
HP:0040068	Abnormality of limb bone	3043	HBB	ORPHA:231226
HP:0040068	Abnormality of limb bone	9394	HS6ST1	OMIM:614880
HP:0040068	Abnormality of limb bone	84695	LOXL3	ORPHA:250984
HP:0040068	Abnormality of limb bone	8600	TNFSF11	OMIM:259710
HP:0040068	Abnormality of limb bone	10466	COG5	ORPHA:263487
HP:0040068	Abnormality of limb bone	8882	ZPR1	OMIM:619321
HP:0040068	Abnormality of limb bone	137682	NDUFAF6	OMIM:618913
HP:0040068	Abnormality of limb bone	153642	ARSK	OMIM:619698
HP:0040068	Abnormality of limb bone	84068	SLC10A7	OMIM:618363
HP:0040068	Abnormality of limb bone	5605	MAP2K2	ORPHA:1340
HP:0040068	Abnormality of limb bone	54681	P4HTM	OMIM:618493
HP:0040068	Abnormality of limb bone	6424	SFRP4	OMIM:265900
HP:0040068	Abnormality of limb bone	2588	GALNS	OMIM:253000
HP:0040068	Abnormality of limb bone	80152	CENPT	OMIM:618702
HP:0040068	Abnormality of limb bone	2990	GUSB	OMIM:253220
HP:0040068	Abnormality of limb bone	8139	GAN	ORPHA:643
HP:0040068	Abnormality of limb bone	80169	CTC1	OMIM:612199
HP:0040068	Abnormality of limb bone	871	SERPINH1	OMIM:613848
HP:0040068	Abnormality of limb bone	284403	WDR62	OMIM:604317
HP:0040068	Abnormality of limb bone	5442	POLRMT	OMIM:619743
HP:0040068	Abnormality of limb bone	4091	SMAD6	OMIM:179300
HP:0040068	Abnormality of limb bone	78989	COLEC11	OMIM:265050
HP:0040068	Abnormality of limb bone	78989	COLEC11	ORPHA:293843
HP:0040068	Abnormality of limb bone	8074	FGF23	ORPHA:89937
HP:0040068	Abnormality of limb bone	1962	EHHADH	OMIM:615605
HP:0040068	Abnormality of limb bone	6569	SLC34A1	ORPHA:157215
HP:0040068	Abnormality of limb bone	25885	POLR1A	OMIM:616462
HP:0040068	Abnormality of limb bone	284086	NEK8	OMIM:615415
HP:0040068	Abnormality of limb bone	166929	SGMS2	OMIM:126550
HP:0040068	Abnormality of limb bone	55151	TMEM38B	OMIM:615066
HP:0040068	Abnormality of limb bone	8218	CLTCL1	ORPHA:453510
HP:0040068	Abnormality of limb bone	1576	CYP3A4	OMIM:619073
HP:0040068	Abnormality of limb bone	28962	OSTM1	OMIM:259720
HP:0040068	Abnormality of limb bone	286053	NSMCE2	OMIM:617253
HP:0040068	Abnormality of limb bone	65082	VPS33A	OMIM:617303
HP:0040068	Abnormality of limb bone	3417	IDH1	ORPHA:99646
HP:0040068	Abnormality of limb bone	51604	PIGT	OMIM:615398
HP:0040068	Abnormality of limb bone	567	B2M	OMIM:241600
HP:0040068	Abnormality of limb bone	1184	CLCN5	OMIM:300554
HP:0040068	Abnormality of limb bone	1184	CLCN5	OMIM:300009
HP:0040068	Abnormality of limb bone	142680	SLC34A3	OMIM:241530
HP:0040068	Abnormality of limb bone	9663	LPIN2	ORPHA:77297
HP:0040068	Abnormality of limb bone	26503	SLC17A5	OMIM:269920
HP:0040068	Abnormality of limb bone	846	CASR	OMIM:239200
HP:0040068	Abnormality of limb bone	1436	CSF1R	OMIM:618476
HP:0040068	Abnormality of limb bone	760	CA2	OMIM:259730
HP:0040068	Abnormality of limb bone	4233	MET	OMIM:607278
HP:0040068	Abnormality of limb bone	55148	UBR7	OMIM:619189
HP:0040068	Abnormality of limb bone	1290	COL5A2	ORPHA:287
HP:0040068	Abnormality of limb bone	4041	LRP5	ORPHA:2788
HP:0040068	Abnormality of limb bone	64131	XYLT1	ORPHA:1425
HP:0040068	Abnormality of limb bone	124583	CANT1	ORPHA:1425
HP:0040068	Abnormality of limb bone	55790	CSGALNACT1	ORPHA:1425
HP:0040068	Abnormality of limb bone	59341	TRPV4	ORPHA:86820
HP:0040068	Abnormality of limb bone	1280	COL2A1	ORPHA:86820
HP:0040068	Abnormality of limb bone	3549	IHH	ORPHA:63446
HP:0040068	Abnormality of limb bone	6473	SHOX	OMIM:127300
HP:0040068	Abnormality of limb bone	50485	SMARCAL1	ORPHA:1830
HP:0040068	Abnormality of limb bone	54808	DYM	ORPHA:239
HP:0040068	Abnormality of limb bone	84572	GNPTG	OMIM:252605
HP:0040068	Abnormality of limb bone	340419	RSPO2	OMIM:618022
HP:0040068	Abnormality of limb bone	4692	NDN	ORPHA:177910
HP:0040068	Abnormality of limb bone	340533	NEXMIF	OMIM:300912
HP:0040068	Abnormality of limb bone	1139	CHRNA7	ORPHA:199318
HP:0040068	Abnormality of limb bone	1139	CHRNA7	OMIM:612001
HP:0040068	Abnormality of limb bone	2132	EXT2	OMIM:616682
HP:0040068	Abnormality of limb bone	23135	KDM6B	OMIM:618505
HP:0040068	Abnormality of limb bone	6659	SOX4	OMIM:618506
HP:0040068	Abnormality of limb bone	1947	EFNB1	ORPHA:1520
HP:0040068	Abnormality of limb bone	1947	EFNB1	OMIM:304110
HP:0040068	Abnormality of limb bone	4010	LMX1B	ORPHA:2614
HP:0040068	Abnormality of limb bone	4010	LMX1B	OMIM:161200
HP:0040068	Abnormality of limb bone	10054	UBA2	OMIM:619959
HP:0040068	Abnormality of limb bone	51126	NAA20	OMIM:619717
HP:0040068	Abnormality of limb bone	9820	CUL7	ORPHA:2616
HP:0040068	Abnormality of limb bone	9820	CUL7	OMIM:273750
HP:0040068	Abnormality of limb bone	23363	OBSL1	ORPHA:2616
HP:0040068	Abnormality of limb bone	83987	CCDC8	ORPHA:2616
HP:0040068	Abnormality of limb bone	83987	CCDC8	OMIM:614205
HP:0040068	Abnormality of limb bone	7021	TFAP2B	OMIM:169100
HP:0040068	Abnormality of limb bone	7021	TFAP2B	ORPHA:46627
HP:0040068	Abnormality of limb bone	7021	TFAP2B	OMIM:617035
HP:0040068	Abnormality of limb bone	3481	IGF2	ORPHA:231140
HP:0040068	Abnormality of limb bone	3481	IGF2	ORPHA:231144
HP:0040068	Abnormality of limb bone	3481	IGF2	OMIM:616489
HP:0040068	Abnormality of limb bone	3481	IGF2	OMIM:180860
HP:0040068	Abnormality of limb bone	3481	IGF2	ORPHA:397590
HP:0040068	Abnormality of limb bone	283120	H19	ORPHA:231140
HP:0040068	Abnormality of limb bone	283120	H19	ORPHA:231144
HP:0040068	Abnormality of limb bone	197131	UBR1	OMIM:243800
HP:0040068	Abnormality of limb bone	4286	MITF	OMIM:617306
HP:0040068	Abnormality of limb bone	23384	SPECC1L	ORPHA:1519
HP:0040068	Abnormality of limb bone	51098	IFT52	ORPHA:1515
HP:0040068	Abnormality of limb bone	55764	IFT122	ORPHA:1515
HP:0040068	Abnormality of limb bone	57728	WDR19	ORPHA:1515
HP:0040068	Abnormality of limb bone	55636	CHD7	ORPHA:138
HP:0040068	Abnormality of limb bone	9723	SEMA3E	ORPHA:138
HP:0040068	Abnormality of limb bone	90	ACVR1	OMIM:135100
HP:0040068	Abnormality of limb bone	90	ACVR1	ORPHA:337
HP:0040068	Abnormality of limb bone	3190	HNRNPK	OMIM:616580
HP:0040068	Abnormality of limb bone	10606	PAICS	OMIM:619859
HP:0040068	Abnormality of limb bone	1009	CDH11	OMIM:619736
HP:0040068	Abnormality of limb bone	652	BMP4	OMIM:607932
HP:0040068	Abnormality of limb bone	1301	COL11A1	OMIM:228520
HP:0040068	Abnormality of limb bone	1301	COL11A1	OMIM:154780
HP:0040068	Abnormality of limb bone	7291	TWIST1	OMIM:101400
HP:0040068	Abnormality of limb bone	7291	TWIST1	ORPHA:794
HP:0040068	Abnormality of limb bone	3981	LIG4	ORPHA:235
HP:0040068	Abnormality of limb bone	3981	LIG4	ORPHA:99812
HP:0040068	Abnormality of limb bone	3981	LIG4	OMIM:606593
HP:0040068	Abnormality of limb bone	1182	CLCN3	OMIM:619512
HP:0040068	Abnormality of limb bone	85301	COL27A1	OMIM:615155
HP:0040068	Abnormality of limb bone	5048	PAFAH1B1	ORPHA:217385
HP:0040068	Abnormality of limb bone	5048	PAFAH1B1	ORPHA:531
HP:0040068	Abnormality of limb bone	7531	YWHAE	ORPHA:217385
HP:0040068	Abnormality of limb bone	7531	YWHAE	ORPHA:531
HP:0040068	Abnormality of limb bone	2121	EVC	OMIM:193530
HP:0040068	Abnormality of limb bone	2121	EVC	ORPHA:952
HP:0040068	Abnormality of limb bone	132884	EVC2	OMIM:193530
HP:0040068	Abnormality of limb bone	132884	EVC2	ORPHA:952
HP:0040068	Abnormality of limb bone	8364	H4C3	OMIM:619758
HP:0040068	Abnormality of limb bone	5590	PRKCZ	ORPHA:1606
HP:0040068	Abnormality of limb bone	2563	GABRD	ORPHA:1606
HP:0040068	Abnormality of limb bone	8510	MMP23B	ORPHA:1606
HP:0040068	Abnormality of limb bone	7798	LUZP1	ORPHA:1606
HP:0040068	Abnormality of limb bone	6497	SKI	ORPHA:1606
HP:0040068	Abnormality of limb bone	10630	PDPN	ORPHA:1606
HP:0040068	Abnormality of limb bone	3339	HSPG2	ORPHA:1606
HP:0040068	Abnormality of limb bone	10277	UBE4B	ORPHA:1606
HP:0040068	Abnormality of limb bone	8514	KCNAB2	ORPHA:1606
HP:0040068	Abnormality of limb bone	473	RERE	ORPHA:1606
HP:0040068	Abnormality of limb bone	473	RERE	OMIM:616975
HP:0040068	Abnormality of limb bone	63976	PRDM16	ORPHA:1606
HP:0040068	Abnormality of limb bone	54897	CASZ1	ORPHA:1606
HP:0040068	Abnormality of limb bone	641	BLM	OMIM:210900
HP:0040068	Abnormality of limb bone	57492	ARID1B	ORPHA:251056
HP:0040068	Abnormality of limb bone	57492	ARID1B	OMIM:135900
HP:0040068	Abnormality of limb bone	63895	PIEZO2	ORPHA:376
HP:0040068	Abnormality of limb bone	23314	SATB2	ORPHA:576283
HP:0040068	Abnormality of limb bone	23314	SATB2	ORPHA:251028
HP:0040068	Abnormality of limb bone	23314	SATB2	ORPHA:251019
HP:0040068	Abnormality of limb bone	2239	GPC4	ORPHA:373
HP:0040068	Abnormality of limb bone	2239	GPC4	ORPHA:2662
HP:0040068	Abnormality of limb bone	2719	GPC3	ORPHA:373
HP:0040068	Abnormality of limb bone	23162	MAPK8IP3	OMIM:618443
HP:0040068	Abnormality of limb bone	2317	FLNB	OMIM:272460
HP:0040068	Abnormality of limb bone	79087	ALG12	ORPHA:79324
HP:0040068	Abnormality of limb bone	26100	WIPI2	OMIM:618453
HP:0040068	Abnormality of limb bone	10533	ATG7	OMIM:619422
HP:0040068	Abnormality of limb bone	8295	TRRAP	OMIM:618454
HP:0040068	Abnormality of limb bone	9742	IFT140	OMIM:266920
HP:0040068	Abnormality of limb bone	7227	TRPS1	ORPHA:77258
HP:0040068	Abnormality of limb bone	3479	IGF1	ORPHA:73272
HP:0040068	Abnormality of limb bone	3479	IGF1	OMIM:608747
HP:0040068	Abnormality of limb bone	6477	SIAH1	OMIM:619314
HP:0040068	Abnormality of limb bone	8473	OGT	OMIM:300997
HP:0040068	Abnormality of limb bone	1798	DPAGT1	OMIM:608093
HP:0040068	Abnormality of limb bone	100151683	RNU4ATAC	ORPHA:353298
HP:0040068	Abnormality of limb bone	100151683	RNU4ATAC	OMIM:226960
HP:0040068	Abnormality of limb bone	100151683	RNU4ATAC	OMIM:616651
HP:0040068	Abnormality of limb bone	100151683	RNU4ATAC	ORPHA:2636
HP:0040068	Abnormality of limb bone	117581	TWIST2	OMIM:200110
HP:0040068	Abnormality of limb bone	117581	TWIST2	OMIM:209885
HP:0040068	Abnormality of limb bone	23030	KDM4B	OMIM:619320
HP:0040068	Abnormality of limb bone	9126	SMC3	OMIM:610759
HP:0040068	Abnormality of limb bone	9126	SMC3	ORPHA:199
HP:0040068	Abnormality of limb bone	1725	DHPS	OMIM:618480
HP:0040068	Abnormality of limb bone	55777	MBD5	OMIM:156200
HP:0040068	Abnormality of limb bone	55777	MBD5	ORPHA:228402
HP:0040068	Abnormality of limb bone	5980	REV3L	ORPHA:570
HP:0040068	Abnormality of limb bone	23129	PLXND1	ORPHA:570
HP:0040068	Abnormality of limb bone	4784	NFIX	OMIM:602535
HP:0040068	Abnormality of limb bone	4998	ORC1	OMIM:224690
HP:0040068	Abnormality of limb bone	4998	ORC1	ORPHA:2554
HP:0040068	Abnormality of limb bone	4052	LTBP1	OMIM:619451
HP:0040068	Abnormality of limb bone	8260	NAA10	OMIM:300855
HP:0040068	Abnormality of limb bone	8260	NAA10	ORPHA:568
HP:0040068	Abnormality of limb bone	9496	TBX4	ORPHA:261279
HP:0040068	Abnormality of limb bone	8091	HMGA2	ORPHA:94063
HP:0040068	Abnormality of limb bone	8091	HMGA2	ORPHA:397590
HP:0040068	Abnormality of limb bone	23592	LEMD3	ORPHA:94063
HP:0040068	Abnormality of limb bone	5283	PIGH	OMIM:618010
HP:0040068	Abnormality of limb bone	50801	KCNK4	OMIM:618381
HP:0040068	Abnormality of limb bone	57003	CCDC47	OMIM:618268
HP:0040068	Abnormality of limb bone	5977	DPF2	OMIM:618027
HP:0040068	Abnormality of limb bone	94005	PIGS	OMIM:618143
HP:0040068	Abnormality of limb bone	145173	B3GLCT	OMIM:261540
HP:0040068	Abnormality of limb bone	145173	B3GLCT	ORPHA:709
HP:0040068	Abnormality of limb bone	285590	SH3PXD2B	ORPHA:137834
HP:0040068	Abnormality of limb bone	526	ATP6V1B2	ORPHA:79500
HP:0040068	Abnormality of limb bone	57465	TBC1D24	ORPHA:79500
HP:0040068	Abnormality of limb bone	57465	TBC1D24	OMIM:220500
HP:0040068	Abnormality of limb bone	5728	PTEN	ORPHA:744
HP:0040068	Abnormality of limb bone	207	AKT1	ORPHA:744
HP:0040068	Abnormality of limb bone	2887	GRB10	ORPHA:96182
HP:0040068	Abnormality of limb bone	1457	CSNK2A1	OMIM:617062
HP:0040068	Abnormality of limb bone	51715	RAB23	OMIM:201000
HP:0040068	Abnormality of limb bone	28952	CCDC22	OMIM:300963
HP:0040068	Abnormality of limb bone	90416	CCDC32	OMIM:619123
HP:0040068	Abnormality of limb bone	8450	CUL4B	ORPHA:85293
HP:0040068	Abnormality of limb bone	55717	WDR11	OMIM:620237
HP:0040068	Abnormality of limb bone	118924	FRA10AC1	OMIM:620113
HP:0040068	Abnormality of limb bone	22995	CEP152	OMIM:613823
HP:0040068	Abnormality of limb bone	22995	CEP152	ORPHA:808
HP:0040068	Abnormality of limb bone	3090	HIC1	ORPHA:531
HP:0040068	Abnormality of limb bone	10436	EMG1	OMIM:211180
HP:0040068	Abnormality of limb bone	10436	EMG1	ORPHA:1270
HP:0040068	Abnormality of limb bone	10084	PQBP1	OMIM:309500
HP:0040068	Abnormality of limb bone	5745	PTH1R	OMIM:156400
HP:0040068	Abnormality of limb bone	89970	RSPRY1	ORPHA:457395
HP:0040068	Abnormality of limb bone	9487	PIGL	OMIM:280000
HP:0040068	Abnormality of limb bone	22800	RRAS2	ORPHA:648
HP:0040068	Abnormality of limb bone	867	CBL	ORPHA:648
HP:0040068	Abnormality of limb bone	8216	LZTR1	ORPHA:648
HP:0040068	Abnormality of limb bone	6016	RIT1	ORPHA:648
HP:0040068	Abnormality of limb bone	6237	RRAS	ORPHA:648
HP:0040068	Abnormality of limb bone	5894	RAF1	ORPHA:648
HP:0040068	Abnormality of limb bone	22808	MRAS	ORPHA:648
HP:0040068	Abnormality of limb bone	3845	KRAS	ORPHA:648
HP:0040068	Abnormality of limb bone	200734	SPRED2	ORPHA:648
HP:0040068	Abnormality of limb bone	4893	NRAS	ORPHA:648
HP:0040068	Abnormality of limb bone	6654	SOS1	ORPHA:648
HP:0040068	Abnormality of limb bone	6655	SOS2	ORPHA:648
HP:0040068	Abnormality of limb bone	5781	PTPN11	ORPHA:648
HP:0040068	Abnormality of limb bone	5922	RASA2	ORPHA:648
HP:0040068	Abnormality of limb bone	23522	KAT6B	ORPHA:3047
HP:0040068	Abnormality of limb bone	79023	NUP37	OMIM:618179
HP:0040068	Abnormality of limb bone	375056	MIA3	OMIM:619269
HP:0040068	Abnormality of limb bone	27161	AGO2	OMIM:619149
HP:0040068	Abnormality of limb bone	5567	PRKACB	OMIM:619143
HP:0040068	Abnormality of limb bone	221927	BRAT1	OMIM:618056
HP:0040068	Abnormality of limb bone	8823	FGF16	OMIM:309630
HP:0040068	Abnormality of limb bone	5518	PPP2R1A	ORPHA:457284
HP:0040068	Abnormality of limb bone	161742	SPRED1	ORPHA:137605
HP:0040068	Abnormality of limb bone	7337	UBE3A	ORPHA:238446
HP:0040068	Abnormality of limb bone	1832	DSP	ORPHA:158687
HP:0040068	Abnormality of limb bone	1832	DSP	OMIM:609638
HP:0040068	Abnormality of limb bone	3728	JUP	ORPHA:158687
HP:0040068	Abnormality of limb bone	23241	PACS2	OMIM:618067
HP:0040068	Abnormality of limb bone	7518	XRCC4	ORPHA:99812
HP:0040068	Abnormality of limb bone	3209	HOXA13	OMIM:140000
HP:0040068	Abnormality of limb bone	3209	HOXA13	ORPHA:2438
HP:0040068	Abnormality of limb bone	613	BCR	ORPHA:261330
HP:0040068	Abnormality of limb bone	1399	CRKL	ORPHA:261330
HP:0040068	Abnormality of limb bone	89910	UBE3B	OMIM:244450
HP:0040068	Abnormality of limb bone	2314	FLII	ORPHA:819
HP:0040068	Abnormality of limb bone	23096	IQSEC2	ORPHA:819
HP:0040068	Abnormality of limb bone	10522	DEAF1	ORPHA:819
HP:0040068	Abnormality of limb bone	150468	CKAP2L	ORPHA:3255
HP:0040068	Abnormality of limb bone	9184	BUB3	ORPHA:1052
HP:0040068	Abnormality of limb bone	699	BUB1	ORPHA:1052
HP:0040068	Abnormality of limb bone	699	BUB1	OMIM:620183
HP:0040068	Abnormality of limb bone	9702	CEP57	ORPHA:1052
HP:0040068	Abnormality of limb bone	9702	CEP57	OMIM:614114
HP:0040068	Abnormality of limb bone	9319	TRIP13	ORPHA:1052
HP:0040068	Abnormality of limb bone	701	BUB1B	ORPHA:1052
HP:0040068	Abnormality of limb bone	54476	RNF216	ORPHA:1173
HP:0040068	Abnormality of limb bone	10908	PNPLA6	ORPHA:1173
HP:0040068	Abnormality of limb bone	23036	ZNF292	OMIM:619188
HP:0040068	Abnormality of limb bone	51199	NIN	OMIM:614851
HP:0040068	Abnormality of limb bone	51199	NIN	ORPHA:319675
HP:0040068	Abnormality of limb bone	1954	MEGF8	OMIM:614976
HP:0040068	Abnormality of limb bone	1857	DVL3	ORPHA:3107
HP:0040068	Abnormality of limb bone	7474	WNT5A	ORPHA:3107
HP:0040068	Abnormality of limb bone	1855	DVL1	ORPHA:3107
HP:0040068	Abnormality of limb bone	2535	FZD2	ORPHA:3107
HP:0040068	Abnormality of limb bone	2535	FZD2	OMIM:164745
HP:0040068	Abnormality of limb bone	26053	AUTS2	OMIM:615834
HP:0040068	Abnormality of limb bone	2122	MECOM	ORPHA:71289
HP:0040068	Abnormality of limb bone	3207	HOXA11	ORPHA:71289
HP:0040068	Abnormality of limb bone	3207	HOXA11	OMIM:605432
HP:0040068	Abnormality of limb bone	81031	SLC2A10	ORPHA:3342
HP:0040068	Abnormality of limb bone	10236	HNRNPR	OMIM:620073
HP:0040068	Abnormality of limb bone	6628	SNRPB	ORPHA:1393
HP:0040068	Abnormality of limb bone	6628	SNRPB	OMIM:117650
HP:0040068	Abnormality of limb bone	1028	CDKN1C	ORPHA:397590
HP:0040068	Abnormality of limb bone	5324	PLAG1	ORPHA:397590
HP:0040068	Abnormality of limb bone	9555	MACROH2A1	ORPHA:1275
HP:0040068	Abnormality of limb bone	5307	PITX1	ORPHA:1275
HP:0040068	Abnormality of limb bone	5422	POLA1	ORPHA:163976
HP:0040068	Abnormality of limb bone	5422	POLA1	OMIM:301030
HP:0040068	Abnormality of limb bone	55906	ZC4H2	ORPHA:3454
HP:0040068	Abnormality of limb bone	10430	TMEM147	OMIM:620075
HP:0040068	Abnormality of limb bone	3187	HNRNPH1	OMIM:620083
HP:0040068	Abnormality of limb bone	23414	ZFPM2	OMIM:187500
HP:0040068	Abnormality of limb bone	23414	ZFPM2	ORPHA:3303
HP:0040068	Abnormality of limb bone	1482	NKX2-5	OMIM:187500
HP:0040068	Abnormality of limb bone	1482	NKX2-5	ORPHA:3303
HP:0040068	Abnormality of limb bone	182	JAG1	OMIM:187500
HP:0040068	Abnormality of limb bone	182	JAG1	ORPHA:3303
HP:0040068	Abnormality of limb bone	6899	TBX1	OMIM:187500
HP:0040068	Abnormality of limb bone	6899	TBX1	ORPHA:3303
HP:0040068	Abnormality of limb bone	2627	GATA6	OMIM:187500
HP:0040068	Abnormality of limb bone	2627	GATA6	ORPHA:3303
HP:0040068	Abnormality of limb bone	545	ATR	ORPHA:808
HP:0040068	Abnormality of limb bone	545	ATR	OMIM:210600
HP:0040068	Abnormality of limb bone	1062	CENPE	ORPHA:808
HP:0040068	Abnormality of limb bone	5116	PCNT	ORPHA:808
HP:0040068	Abnormality of limb bone	5116	PCNT	OMIM:210720
HP:0040068	Abnormality of limb bone	5116	PCNT	ORPHA:2637
HP:0040068	Abnormality of limb bone	79902	NUP85	ORPHA:808
HP:0040068	Abnormality of limb bone	84126	ATRIP	ORPHA:808
HP:0040068	Abnormality of limb bone	55835	CENPJ	ORPHA:808
HP:0040068	Abnormality of limb bone	10293	TRAIP	ORPHA:808
HP:0040068	Abnormality of limb bone	10733	PLK4	ORPHA:808
HP:0040068	Abnormality of limb bone	29123	ANKRD11	OMIM:148050
HP:0040068	Abnormality of limb bone	9775	EIF4A3	OMIM:268305
HP:0040068	Abnormality of limb bone	2702	GJA5	OMIM:612474
HP:0040068	Abnormality of limb bone	2702	GJA5	ORPHA:3303
HP:0040068	Abnormality of limb bone	2703	GJA8	OMIM:612474
HP:0040068	Abnormality of limb bone	55690	PACS1	ORPHA:329224
HP:0040068	Abnormality of limb bone	22856	CHSY1	ORPHA:363417
HP:0040068	Abnormality of limb bone	51621	KLF13	OMIM:612001
HP:0040068	Abnormality of limb bone	5648	MASP1	OMIM:257920
HP:0040068	Abnormality of limb bone	11133	KPTN	OMIM:615637
HP:0040068	Abnormality of limb bone	11133	KPTN	ORPHA:397612
HP:0040068	Abnormality of limb bone	137814	NKX2-6	ORPHA:3303
HP:0040068	Abnormality of limb bone	3791	KDR	ORPHA:3303
HP:0040068	Abnormality of limb bone	2657	GDF1	ORPHA:3303
HP:0040068	Abnormality of limb bone	140628	GATA5	ORPHA:3303
HP:0040068	Abnormality of limb bone	2324	FLT4	ORPHA:3303
HP:0040068	Abnormality of limb bone	10370	CITED2	ORPHA:3303
HP:0040068	Abnormality of limb bone	2334	AFF2	ORPHA:100973
HP:0040068	Abnormality of limb bone	10847	SRCAP	OMIM:136140
HP:0040068	Abnormality of limb bone	84679	SLC9A7	OMIM:301024
HP:0040068	Abnormality of limb bone	10735	STAG2	OMIM:301022
HP:0040068	Abnormality of limb bone	5925	RB1	ORPHA:1587
HP:0040068	Abnormality of limb bone	7874	USP7	OMIM:616863
HP:0040068	Abnormality of limb bone	81620	CDT1	ORPHA:2554
HP:0040068	Abnormality of limb bone	5000	ORC4	ORPHA:2554
HP:0040068	Abnormality of limb bone	23594	ORC6	ORPHA:2554
HP:0040068	Abnormality of limb bone	990	CDC6	ORPHA:2554
HP:0040068	Abnormality of limb bone	51053	GMNN	ORPHA:2554
HP:0040068	Abnormality of limb bone	25	ABL1	OMIM:617602
HP:0040068	Abnormality of limb bone	29980	DONSON	OMIM:617604
HP:0040068	Abnormality of limb bone	6638	SNRPN	ORPHA:177907
HP:0040068	Abnormality of limb bone	23476	BRD4	ORPHA:199
HP:0040068	Abnormality of limb bone	22931	RAB18	OMIM:614222
HP:0040068	Abnormality of limb bone	490	ATP2B1	OMIM:619910
HP:0040068	Abnormality of limb bone	54870	QRICH1	OMIM:617982
HP:0040068	Abnormality of limb bone	139285	AMER1	OMIM:300373
HP:0040068	Abnormality of limb bone	4841	NONO	ORPHA:466791
HP:0040068	Abnormality of limb bone	2186	BPTF	OMIM:617755
HP:0040068	Abnormality of limb bone	10225	CD96	ORPHA:1308
HP:0040068	Abnormality of limb bone	4204	MECP2	OMIM:300260
HP:0040068	Abnormality of limb bone	55553	SOX6	OMIM:618971
HP:0040068	Abnormality of limb bone	84148	KAT8	OMIM:618974
HP:0040068	Abnormality of limb bone	58499	ZNF462	OMIM:618619
HP:0040068	Abnormality of limb bone	6598	SMARCB1	OMIM:614608
HP:0040068	Abnormality of limb bone	8838	CCN6	ORPHA:1159
HP:0040068	Abnormality of limb bone	4148	MATN3	ORPHA:93311
HP:0040068	Abnormality of limb bone	3480	IGF1R	ORPHA:73273
HP:0040068	Abnormality of limb bone	4921	DDR2	OMIM:271665
HP:0040068	Abnormality of limb bone	124997	WDR81	OMIM:610185
HP:0040068	Abnormality of limb bone	79639	TMEM53	OMIM:619727
HP:0040068	Abnormality of limb bone	25782	RAB3GAP2	OMIM:212720
HP:0040068	Abnormality of limb bone	1778	DYNC1H1	OMIM:614563
HP:0040068	Abnormality of limb bone	80311	KLHL15	OMIM:300982
HP:0040068	Abnormality of limb bone	55012	PPP2R3C	OMIM:618419
HP:0040068	Abnormality of limb bone	10013	HDAC6	ORPHA:163966
HP:0040068	Abnormality of limb bone	9719	ADAMTSL2	OMIM:231050
HP:0040068	Abnormality of limb bone	79718	TBL1XR1	OMIM:602342
HP:0040068	Abnormality of limb bone	1298	COL9A2	OMIM:600204
HP:0040068	Abnormality of limb bone	28957	MRPS28	OMIM:618958
HP:0040068	Abnormality of limb bone	23261	CAMTA1	OMIM:614756
HP:0040068	Abnormality of limb bone	25839	COG4	ORPHA:85172
HP:0040068	Abnormality of limb bone	8813	DPM1	OMIM:608799
HP:0040068	Abnormality of limb bone	147372	CCBE1	OMIM:235510
HP:0040068	Abnormality of limb bone	579	NKX3-2	OMIM:613330
HP:0040068	Abnormality of limb bone	1302	COL11A2	OMIM:215150
HP:0040068	Abnormality of limb bone	3094	HINT1	ORPHA:324442
HP:0040068	Abnormality of limb bone	2879	GPX4	OMIM:250220
HP:0040068	Abnormality of limb bone	5191	PEX7	OMIM:266500
HP:0040068	Abnormality of limb bone	5264	PHYH	OMIM:266500
HP:0040068	Abnormality of limb bone	54585	LZTFL1	OMIM:615994
HP:0040068	Abnormality of limb bone	55628	ZNF407	OMIM:619557
HP:0040068	Abnormality of limb bone	2146	EZH2	OMIM:277590
HP:0040068	Abnormality of limb bone	79633	FAT4	OMIM:615546
HP:0040068	Abnormality of limb bone	8642	DCHS1	OMIM:601390
HP:0040068	Abnormality of limb bone	54496	PRMT7	ORPHA:464288
HP:0040068	Abnormality of limb bone	10682	EBP	ORPHA:401973
HP:0040068	Abnormality of limb bone	10682	EBP	OMIM:300960
HP:0040068	Abnormality of limb bone	650	BMP2	OMIM:112600
HP:0040068	Abnormality of limb bone	11253	MAN1B1	ORPHA:397941
HP:0040068	Abnormality of limb bone	23394	ADNP	ORPHA:404448
HP:0040068	Abnormality of limb bone	5898	RALA	OMIM:619311
HP:0040068	Abnormality of limb bone	8294	H4C9	OMIM:619951
HP:0040068	Abnormality of limb bone	8506	CNTNAP1	OMIM:618186
HP:0040068	Abnormality of limb bone	4683	NBN	OMIM:251260
HP:0040068	Abnormality of limb bone	5885	RAD21	OMIM:614701
HP:0040068	Abnormality of limb bone	81857	MED25	OMIM:616449
HP:0040068	Abnormality of limb bone	81857	MED25	ORPHA:464738
HP:0040068	Abnormality of limb bone	10586	MAB21L2	OMIM:615877
HP:0040068	Abnormality of limb bone	8854	ALDH1A2	OMIM:620025
HP:0040068	Abnormality of limb bone	10274	STAG1	ORPHA:502434
HP:0040068	Abnormality of limb bone	85358	SHANK3	OMIM:606232
HP:0040068	Abnormality of limb bone	64324	NSD1	ORPHA:821
HP:0040068	Abnormality of limb bone	29072	SETD2	ORPHA:821
HP:0040068	Abnormality of limb bone	10297	APC2	ORPHA:821
HP:0040068	Abnormality of limb bone	55209	SETD5	ORPHA:404440
HP:0040068	Abnormality of limb bone	10743	RAI1	ORPHA:477817
HP:0040068	Abnormality of limb bone	23291	FBXW11	OMIM:618914
HP:0040068	Abnormality of limb bone	10982	MAPRE2	OMIM:616734
HP:0040068	Abnormality of limb bone	4297	KMT2A	OMIM:605130
HP:0040068	Abnormality of limb bone	6660	SOX5	ORPHA:313892
HP:0040068	Abnormality of limb bone	54880	BCOR	ORPHA:2712
HP:0040068	Abnormality of limb bone	54880	BCOR	OMIM:300166
HP:0040068	Abnormality of limb bone	51057	WDPCP	OMIM:217085
HP:0040068	Abnormality of limb bone	9241	NOG	OMIM:186500
HP:0040068	Abnormality of limb bone	7319	UBE2A	OMIM:300860
HP:0040068	Abnormality of limb bone	10087	CERT1	OMIM:616351
HP:0040068	Abnormality of limb bone	372	ARCN1	OMIM:617164
HP:0040068	Abnormality of limb bone	164	AP1G1	OMIM:619467
HP:0040068	Abnormality of limb bone	1656	DDX6	OMIM:618653
HP:0040068	Abnormality of limb bone	4212	MEIS2	OMIM:600987
HP:0040068	Abnormality of limb bone	23327	NEDD4L	OMIM:617201
HP:0040068	Abnormality of limb bone	5147	PDE6D	OMIM:615665
HP:0040068	Abnormality of limb bone	57178	ZMIZ1	OMIM:618659
HP:0040068	Abnormality of limb bone	93627	TBCK	ORPHA:488632
HP:0040068	Abnormality of limb bone	6304	SATB1	OMIM:619229
HP:0040068	Abnormality of limb bone	80185	TTI2	ORPHA:391307
HP:0040068	Abnormality of limb bone	26160	IFT172	OMIM:619471
HP:0040068	Abnormality of limb bone	10664	CTCF	ORPHA:363611
HP:0040068	Abnormality of limb bone	3590	IL11RA	OMIM:614188
HP:0040068	Abnormality of limb bone	55165	CEP55	OMIM:236500
HP:0040068	Abnormality of limb bone	84992	PIGY	OMIM:616809
HP:0040068	Abnormality of limb bone	10907	TXNL4A	OMIM:608572
HP:0040068	Abnormality of limb bone	284252	KCTD1	OMIM:181270
HP:0040068	Abnormality of limb bone	6558	SLC12A2	OMIM:619080
HP:0040068	Abnormality of limb bone	7204	TRIO	OMIM:617061
HP:0040068	Abnormality of limb bone	7204	TRIO	ORPHA:476126
HP:0040068	Abnormality of limb bone	2222	FDFT1	OMIM:618156
HP:0040068	Abnormality of limb bone	4089	SMAD4	OMIM:139210
HP:0040068	Abnormality of limb bone	6857	SYT1	ORPHA:522077
HP:0040068	Abnormality of limb bone	6472	SHMT2	OMIM:619121
HP:0040068	Abnormality of limb bone	112752	IFT43	OMIM:617866
HP:0040068	Abnormality of limb bone	112752	IFT43	OMIM:614099
HP:0040068	Abnormality of limb bone	57570	TRMT5	OMIM:616539
HP:0040068	Abnormality of limb bone	23529	CLCF1	OMIM:610313
HP:0040068	Abnormality of limb bone	11128	POLR3A	ORPHA:3455
HP:0040068	Abnormality of limb bone	745	MYRF	OMIM:618280
HP:0040068	Abnormality of limb bone	23387	SIK3	OMIM:618162
HP:0040068	Abnormality of limb bone	10020	GNE	OMIM:269921
HP:0040068	Abnormality of limb bone	10020	GNE	ORPHA:3166
HP:0040068	Abnormality of limb bone	1663	DDX11	OMIM:613398
HP:0040068	Abnormality of limb bone	5718	PSMD12	OMIM:617516
HP:0040068	Abnormality of limb bone	9757	KMT2B	OMIM:619934
HP:0040068	Abnormality of limb bone	4848	CNOT2	OMIM:618608
HP:0040068	Abnormality of limb bone	55023	PHIP	ORPHA:589905
HP:0040068	Abnormality of limb bone	341208	HEPHL1	OMIM:261990
HP:0040068	Abnormality of limb bone	55212	BBS7	OMIM:615984
HP:0040068	Abnormality of limb bone	4208	MEF2C	OMIM:613443
HP:0040068	Abnormality of limb bone	3720	JARID2	OMIM:620098
HP:0040068	Abnormality of limb bone	3762	KCNJ5	ORPHA:37553
HP:0040068	Abnormality of limb bone	3759	KCNJ2	ORPHA:37553
HP:0040068	Abnormality of limb bone	9990	SLC12A6	OMIM:218000
HP:0040068	Abnormality of limb bone	4613	MYCN	ORPHA:391641
HP:0040068	Abnormality of limb bone	4613	MYCN	OMIM:164280
HP:0040068	Abnormality of limb bone	6913	TBX15	OMIM:260660
HP:0040068	Abnormality of limb bone	54888	NSUN2	OMIM:611091
HP:0040068	Abnormality of limb bone	50814	NSDHL	OMIM:308050
HP:0040068	Abnormality of limb bone	92002	CCNQ	OMIM:300707
HP:0040068	Abnormality of limb bone	81607	NECTIN4	OMIM:613573
HP:0040068	Abnormality of limb bone	9894	TELO2	ORPHA:488642
HP:0040068	Abnormality of limb bone	5932	RBBP8	OMIM:251255
HP:0040068	Abnormality of limb bone	2629	GBA1	OMIM:230800
HP:0040068	Abnormality of limb bone	5660	PSAP	OMIM:610539
HP:0040068	Abnormality of limb bone	1594	CYP27B1	ORPHA:289157
HP:0040068	Abnormality of limb bone	120227	CYP2R1	ORPHA:289157
HP:0040068	Abnormality of limb bone	203859	ANO5	OMIM:166260
HP:0040068	Abnormality of limb bone	4507	MTAP	OMIM:112250
HP:0040068	Abnormality of limb bone	55503	TRPV6	OMIM:618188
HP:0040068	Abnormality of limb bone	4982	TNFRSF11B	OMIM:239000
HP:0040068	Abnormality of limb bone	1758	DMP1	ORPHA:289176
HP:0040068	Abnormality of limb bone	5167	ENPP1	ORPHA:289176
HP:0040068	Abnormality of limb bone	84265	POLR3GL	OMIM:619234
HP:0040068	Abnormality of limb bone	1327	COX4I1	OMIM:619060
HP:0040068	Abnormality of limb bone	1147	CHUK	OMIM:619339
HP:0040068	Abnormality of limb bone	10079	ATP9A	OMIM:620242
HP:0040068	Abnormality of limb bone	55898	UNC45A	OMIM:619377
HP:0040068	Abnormality of limb bone	26277	TINF2	OMIM:613990
HP:0040068	Abnormality of limb bone	9652	SKIC3	OMIM:222470
HP:0040068	Abnormality of limb bone	11277	TREX1	ORPHA:247691
HP:0040068	Abnormality of limb bone	8540	AGPS	OMIM:600121
HP:0040068	Abnormality of limb bone	11160	ERLIN2	ORPHA:209951
HP:0040068	Abnormality of limb bone	22978	NT5C2	ORPHA:320396
HP:0040068	Abnormality of limb bone	1984	EIF5A	OMIM:619376
HP:0040068	Abnormality of limb bone	51305	KCNK9	ORPHA:166108
HP:0040068	Abnormality of limb bone	825	CAPN3	ORPHA:267
HP:0040068	Abnormality of limb bone	113179	ADAT3	ORPHA:363528
HP:0040068	Abnormality of limb bone	324	APC	ORPHA:3258
HP:0040068	Abnormality of limb bone	9365	KL	OMIM:617994
HP:0040068	Abnormality of limb bone	128674	PROKR2	OMIM:244200
HP:0040068	Abnormality of limb bone	22861	NLRP1	OMIM:615225
HP:0040068	Abnormality of limb bone	3373	HYAL1	OMIM:601492
HP:0040068	Abnormality of limb bone	2332	FMR1	OMIM:300624
HP:0040068	Abnormality of limb bone	341640	FREM2	ORPHA:2052
HP:0040068	Abnormality of limb bone	80144	FRAS1	ORPHA:2052
HP:0040068	Abnormality of limb bone	23426	GRIP1	ORPHA:2052
HP:0040068	Abnormality of limb bone	9790	BMS1	ORPHA:1114
HP:0040068	Abnormality of limb bone	5339	PLEC	ORPHA:1114
HP:0040068	Abnormality of limb bone	3691	ITGB4	ORPHA:1114
HP:0040068	Abnormality of limb bone	5818	NECTIN1	ORPHA:3253
HP:0040068	Abnormality of limb bone	1500	CTNND1	ORPHA:1997
HP:0040068	Abnormality of limb bone	134701	RIPPLY2	ORPHA:2311
HP:0040068	Abnormality of limb bone	10683	DLL3	ORPHA:2311
HP:0040068	Abnormality of limb bone	84667	HES7	ORPHA:2311
HP:0040068	Abnormality of limb bone	145873	MESP2	ORPHA:2311
HP:0040068	Abnormality of limb bone	1501	CTNND2	ORPHA:281
HP:0040068	Abnormality of limb bone	9037	SEMA5A	ORPHA:281
HP:0040068	Abnormality of limb bone	9508	ADAMTS3	ORPHA:2136
HP:0040068	Abnormality of limb bone	8517	IKBKG	ORPHA:464
HP:0040068	Abnormality of limb bone	29968	PSAT1	OMIM:616038
HP:0040068	Abnormality of limb bone	3376	IARS1	ORPHA:541423
HP:0040068	Abnormality of limb bone	6583	SLC22A4	OMIM:180300
HP:0040068	Abnormality of limb bone	4261	CIITA	OMIM:180300
HP:0040068	Abnormality of limb bone	51744	CD244	OMIM:180300
HP:0040068	Abnormality of limb bone	4795	NFKBIL1	OMIM:180300
HP:0040068	Abnormality of limb bone	3586	IL10	OMIM:180300
HP:0040068	Abnormality of limb bone	26278	SACS	OMIM:270550
HP:0040068	Abnormality of limb bone	7466	WFS1	OMIM:222300
HP:0040068	Abnormality of limb bone	54829	ASPN	OMIM:607850
HP:0040068	Abnormality of limb bone	2720	GLB1	ORPHA:79255
HP:0040068	Abnormality of limb bone	56172	ANKH	OMIM:123000
HP:0040068	Abnormality of limb bone	249	ALPL	OMIM:241500
HP:0040068	Abnormality of limb bone	5479	PPIB	OMIM:259440
HP:0040068	Abnormality of limb bone	3911	LAMA5	OMIM:620076
HP:0040068	Abnormality of limb bone	2767	GNA11	ORPHA:1556
HP:0040068	Abnormality of limb bone	151188	ARL6IP6	ORPHA:1556
HP:0040068	Abnormality of limb bone	51025	PAM16	OMIM:613320
HP:0040068	Abnormality of limb bone	6662	SOX9	OMIM:114290
HP:0040068	Abnormality of limb bone	1297	COL9A1	OMIM:614135
HP:0040068	Abnormality of limb bone	4322	MMP13	OMIM:250400
HP:0040068	Abnormality of limb bone	4322	MMP13	ORPHA:2501
HP:0040068	Abnormality of limb bone	1300	COL10A1	OMIM:156500
HP:0040068	Abnormality of limb bone	55325	UFSP2	ORPHA:2114
HP:0040068	Abnormality of limb bone	55325	UFSP2	OMIM:142669
HP:0040068	Abnormality of limb bone	83452	RAB33B	OMIM:615222
HP:0040068	Abnormality of limb bone	9382	COG1	OMIM:611209
HP:0040068	Abnormality of limb bone	5251	PHEX	OMIM:307800
HP:0040068	Abnormality of limb bone	5251	PHEX	ORPHA:89936
HP:0040068	Abnormality of limb bone	6812	STXBP1	ORPHA:495818
HP:0040068	Abnormality of limb bone	64682	ANAPC1	ORPHA:221008
HP:0040068	Abnormality of limb bone	6678	SPARC	OMIM:616507
HP:0040068	Abnormality of limb bone	6905	TBCE	ORPHA:93324
HP:0040068	Abnormality of limb bone	79879	CCDC134	OMIM:619795
HP:0040068	Abnormality of limb bone	9871	SEC24D	ORPHA:2050
HP:0040068	Abnormality of limb bone	5034	P4HB	ORPHA:2050
HP:0040068	Abnormality of limb bone	29887	SNX10	ORPHA:667
HP:0040068	Abnormality of limb bone	55603	TENT5A	OMIM:617952
HP:0040068	Abnormality of limb bone	5831	PYCR1	OMIM:612940
HP:0040068	Abnormality of limb bone	90993	CREB3L1	OMIM:616229
HP:0040068	Abnormality of limb bone	3572	IL6ST	OMIM:619751
HP:0040068	Abnormality of limb bone	5352	PLOD2	ORPHA:2771
HP:0040068	Abnormality of limb bone	6514	SLC2A2	ORPHA:2088
HP:0040068	Abnormality of limb bone	5921	RASA1	ORPHA:90307
HP:0040068	Abnormality of limb bone	7157	TP53	ORPHA:668
HP:0040068	Abnormality of limb bone	11200	CHEK2	ORPHA:668
HP:0040068	Abnormality of limb bone	4318	MMP9	ORPHA:1040
HP:0040068	Abnormality of limb bone	145258	GSC	OMIM:602471
HP:0040068	Abnormality of limb bone	64135	IFIH1	OMIM:182250
HP:0040068	Abnormality of limb bone	84342	COG8	OMIM:611182
HP:0040068	Abnormality of limb bone	2074	ERCC6	OMIM:214150
HP:0040068	Abnormality of limb bone	9451	EIF2AK3	OMIM:226980
HP:0040068	Abnormality of limb bone	10804	GJB6	ORPHA:477
HP:0040068	Abnormality of limb bone	2706	GJB2	ORPHA:477
HP:0040068	Abnormality of limb bone	3032	HADHB	ORPHA:746
HP:0040068	Abnormality of limb bone	3030	HADHA	ORPHA:746
HP:0040068	Abnormality of limb bone	3236	HOXD10	OMIM:192950
HP:0040068	Abnormality of limb bone	2273	FHL1	OMIM:300280
HP:0040068	Abnormality of limb bone	3459	IFNGR1	OMIM:209950
HP:0040068	Abnormality of limb bone	405753	DUOXA2	ORPHA:95716
HP:0040068	Abnormality of limb bone	6528	SLC5A5	ORPHA:95716
HP:0040068	Abnormality of limb bone	7038	TG	ORPHA:95716
HP:0040068	Abnormality of limb bone	7173	TPO	ORPHA:95716
HP:0040068	Abnormality of limb bone	389434	IYD	ORPHA:95716
HP:0040068	Abnormality of limb bone	50506	DUOX2	ORPHA:95716
HP:0040068	Abnormality of limb bone	7253	TSHR	ORPHA:90673
HP:0040068	Abnormality of limb bone	7252	TSHB	ORPHA:90674
HP:0040068	Abnormality of limb bone	8443	GNPAT	OMIM:222765
HP:0040068	Abnormality of limb bone	79912	PYROXD1	OMIM:617258
HP:0040068	Abnormality of limb bone	10765	KDM5B	OMIM:618109
HP:0040068	Abnormality of limb bone	10093	ARPC4	OMIM:620141
HP:0040068	Abnormality of limb bone	5879	RAC1	ORPHA:500159
HP:0040068	Abnormality of limb bone	1144	CHRND	OMIM:253290
HP:0040068	Abnormality of limb bone	1134	CHRNA1	OMIM:253290
HP:0040068	Abnormality of limb bone	2019	EN1	OMIM:619218
HP:0040068	Abnormality of limb bone	51651	PTRH2	OMIM:616263
HP:0040068	Abnormality of limb bone	51651	PTRH2	ORPHA:456312
HP:0040068	Abnormality of limb bone	22930	RAB3GAP1	ORPHA:1387
HP:0040068	Abnormality of limb bone	6909	TBX2	OMIM:618223
HP:0040068	Abnormality of limb bone	8985	PLOD3	OMIM:612394
HP:0040068	Abnormality of limb bone	55280	CWF19L1	ORPHA:453521
HP:0040068	Abnormality of limb bone	23586	RIGI	OMIM:616298
HP:0040068	Abnormality of limb bone	8452	CUL3	OMIM:619239
HP:0040068	Abnormality of limb bone	1807	DPYS	OMIM:222748
HP:0040068	Abnormality of limb bone	8815	BANF1	OMIM:614008
HP:0040068	Abnormality of limb bone	26229	B3GAT3	OMIM:245600
HP:0040068	Abnormality of limb bone	51412	ACTL6B	OMIM:618470
HP:0040068	Abnormality of limb bone	55784	MCTP2	ORPHA:1596
HP:0040068	Abnormality of limb bone	10651	MTX2	ORPHA:90153
HP:0040068	Abnormality of limb bone	10269	ZMPSTE24	ORPHA:90154
HP:0040068	Abnormality of limb bone	24140	FTSJ1	OMIM:309549
HP:0040068	Abnormality of limb bone	2475	MTOR	OMIM:616638
HP:0040068	Abnormality of limb bone	54	ACP5	ORPHA:1855
HP:0040068	Abnormality of limb bone	5281	PIGF	OMIM:619356
HP:0040068	Abnormality of limb bone	2677	GGCX	OMIM:277450
HP:0040068	Abnormality of limb bone	415	ARSL	ORPHA:79345
HP:0040068	Abnormality of limb bone	415	ARSL	OMIM:302950
HP:0040068	Abnormality of limb bone	26137	ZBTB20	OMIM:259050
HP:0040068	Abnormality of limb bone	60401	EDA2R	ORPHA:181
HP:0040068	Abnormality of limb bone	1896	EDA	ORPHA:181
HP:0040068	Abnormality of limb bone	4256	MGP	ORPHA:85202
HP:0040068	Abnormality of limb bone	4256	MGP	OMIM:245150
HP:0040068	Abnormality of limb bone	1186	CLCN7	ORPHA:53
HP:0040068	Abnormality of limb bone	865	CBFB	OMIM:620099
HP:0040068	Abnormality of limb bone	6711	SPTBN1	OMIM:619475
HP:0040068	Abnormality of limb bone	71	ACTG1	ORPHA:2995
HP:0040068	Abnormality of limb bone	6135	RPL11	ORPHA:124
HP:0040068	Abnormality of limb bone	6138	RPL15	ORPHA:124
HP:0040068	Abnormality of limb bone	6229	RPS24	ORPHA:124
HP:0040068	Abnormality of limb bone	6125	RPL5	ORPHA:124
HP:0040068	Abnormality of limb bone	6204	RPS10	ORPHA:124
HP:0040068	Abnormality of limb bone	6224	RPS20	ORPHA:124
HP:0040068	Abnormality of limb bone	6165	RPL35A	ORPHA:124
HP:0040068	Abnormality of limb bone	6223	RPS19	ORPHA:124
HP:0040068	Abnormality of limb bone	6223	RPS19	OMIM:105650
HP:0040068	Abnormality of limb bone	6232	RPS27	ORPHA:124
HP:0040068	Abnormality of limb bone	6231	RPS26	ORPHA:124
HP:0040068	Abnormality of limb bone	11224	RPL35	ORPHA:124
HP:0040068	Abnormality of limb bone	6160	RPL31	ORPHA:124
HP:0040068	Abnormality of limb bone	6218	RPS17	ORPHA:124
HP:0040068	Abnormality of limb bone	6201	RPS7	ORPHA:124
HP:0040068	Abnormality of limb bone	6155	RPL27	ORPHA:124
HP:0040068	Abnormality of limb bone	6210	RPS15A	ORPHA:124
HP:0040068	Abnormality of limb bone	90121	TSR2	ORPHA:124
HP:0040068	Abnormality of limb bone	6141	RPL18	ORPHA:124
HP:0040068	Abnormality of limb bone	6235	RPS29	ORPHA:124
HP:0040068	Abnormality of limb bone	6234	RPS28	ORPHA:124
HP:0040068	Abnormality of limb bone	51816	ADA2	ORPHA:124
HP:0040068	Abnormality of limb bone	10992	SF3B2	OMIM:164210
HP:0040068	Abnormality of limb bone	27152	INTU	OMIM:617926
HP:0040068	Abnormality of limb bone	57020	VPS35L	OMIM:619135
HP:0040068	Abnormality of limb bone	6736	SRY	ORPHA:1772
HP:0040068	Abnormality of limb bone	26224	FBXL3	OMIM:606220
HP:0040068	Abnormality of limb bone	55612	FERMT1	ORPHA:2908
HP:0040068	Abnormality of limb bone	64175	P3H1	OMIM:610915
HP:0040068	Abnormality of limb bone	5593	PRKG2	OMIM:619636
HP:0040068	Abnormality of limb bone	4810	NHS	ORPHA:627
HP:0040068	Abnormality of limb bone	55252	ASXL2	OMIM:617190
HP:0040068	Abnormality of limb bone	1788	DNMT3A	OMIM:618724
HP:0040068	Abnormality of limb bone	90417	KNSTRN	OMIM:613328
HP:0040068	Abnormality of limb bone	5293	PIK3CD	OMIM:613328
HP:0040068	Abnormality of limb bone	10059	DNM1L	OMIM:614388
HP:0040068	Abnormality of limb bone	4329	ALDH6A1	OMIM:614105
HP:0040068	Abnormality of limb bone	6878	TAF6	OMIM:617126
HP:0040068	Abnormality of limb bone	285362	SUMF1	ORPHA:585
HP:0040068	Abnormality of limb bone	3764	KCNJ8	ORPHA:1517
HP:0040068	Abnormality of limb bone	60	ACTB	OMIM:243310
HP:0040068	Abnormality of limb bone	10060	ABCC9	OMIM:239850
HP:0040068	Abnormality of limb bone	10716	TBR1	ORPHA:1617
HP:0040068	Abnormality of limb bone	1161	ERCC8	OMIM:216400
HP:0040068	Abnormality of limb bone	158326	FREM1	ORPHA:217266
HP:0040068	Abnormality of limb bone	3170	FOXA2	ORPHA:95494
HP:0040068	Abnormality of limb bone	5015	OTX2	ORPHA:95494
HP:0040068	Abnormality of limb bone	3899	AFF3	OMIM:619297
HP:0040068	Abnormality of limb bone	22897	CEP164	OMIM:614845
HP:0040068	Abnormality of limb bone	3643	INSR	ORPHA:769
HP:0040068	Abnormality of limb bone	26146	TRAF3IP1	OMIM:616629
HP:0040068	Abnormality of limb bone	7840	ALMS1	OMIM:203800
HP:0040068	Abnormality of limb bone	8802	SUCLG1	ORPHA:17
HP:0040068	Abnormality of limb bone	83879	CDCA7	OMIM:616910
HP:0040068	Abnormality of limb bone	5813	PURA	ORPHA:314655
HP:0040068	Abnormality of limb bone	4758	NEU1	ORPHA:93400
HP:0040068	Abnormality of limb bone	84892	POMGNT2	ORPHA:899
HP:0040068	Abnormality of limb bone	148789	B3GALNT2	ORPHA:899
HP:0040068	Abnormality of limb bone	79147	FKRP	ORPHA:899
HP:0040068	Abnormality of limb bone	29954	POMT2	ORPHA:899
HP:0040068	Abnormality of limb bone	9215	LARGE1	ORPHA:899
HP:0040068	Abnormality of limb bone	1282	COL4A1	ORPHA:899
HP:0040068	Abnormality of limb bone	10329	RXYLT1	ORPHA:899
HP:0040068	Abnormality of limb bone	1605	DAG1	ORPHA:899
HP:0040068	Abnormality of limb bone	11041	B4GAT1	ORPHA:899
HP:0040068	Abnormality of limb bone	10585	POMT1	ORPHA:899
HP:0040068	Abnormality of limb bone	84197	POMK	ORPHA:899
HP:0040068	Abnormality of limb bone	55624	POMGNT1	ORPHA:899
HP:0040068	Abnormality of limb bone	51111	KMT5B	OMIM:617788
HP:0040068	Abnormality of limb bone	80347	COASY	OMIM:618266
HP:0040068	Abnormality of limb bone	54809	SAMD9	OMIM:617053
HP:0040068	Abnormality of limb bone	348180	CTU2	OMIM:618142
HP:0040068	Abnormality of limb bone	7841	MOGS	OMIM:606056
HP:0040068	Abnormality of limb bone	7841	MOGS	ORPHA:79330
HP:0040068	Abnormality of limb bone	256297	PTF1A	OMIM:609069
HP:0040068	Abnormality of limb bone	129285	PPP1R21	OMIM:619383
HP:0040068	Abnormality of limb bone	8567	MADD	OMIM:619004
HP:0040068	Abnormality of limb bone	5297	PI4KA	OMIM:616531
HP:0040068	Abnormality of limb bone	5297	PI4KA	OMIM:619708
HP:0040068	Abnormality of limb bone	1822	ATN1	OMIM:618494
HP:0040068	Abnormality of limb bone	5591	PRKDC	OMIM:615966
HP:0040068	Abnormality of limb bone	60561	RINT1	OMIM:618641
HP:0040068	Abnormality of limb bone	3313	HSPA9	OMIM:616854
HP:0040068	Abnormality of limb bone	4626	MYH8	OMIM:158300
HP:0040068	Abnormality of limb bone	64116	SLC39A8	ORPHA:468699
HP:0040068	Abnormality of limb bone	51506	UFC1	OMIM:618076
HP:0040068	Abnormality of limb bone	11146	GLMN	ORPHA:83454
HP:0040068	Abnormality of limb bone	29998	BICRA	OMIM:619325
HP:0040068	Abnormality of limb bone	8726	EED	OMIM:617561
HP:0040068	Abnormality of limb bone	8726	EED	ORPHA:3447
HP:0040068	Abnormality of limb bone	657	BMPR1A	ORPHA:79076
HP:0040068	Abnormality of limb bone	4123	MAN2C1	OMIM:619775
HP:0040068	Abnormality of limb bone	60529	ALX4	ORPHA:60015
HP:0040068	Abnormality of limb bone	5587	PRKD1	OMIM:617364
HP:0040068	Abnormality of limb bone	654	BMP6	ORPHA:465508
HP:0040068	Abnormality of limb bone	3077	HFE	ORPHA:465508
HP:0040068	Abnormality of limb bone	6775	STAT4	ORPHA:85408
HP:0040068	Abnormality of limb bone	3560	IL2RB	ORPHA:85408
HP:0040068	Abnormality of limb bone	79722	ANKRD55	ORPHA:85408
HP:0040068	Abnormality of limb bone	26191	PTPN22	ORPHA:85408
HP:0040068	Abnormality of limb bone	919	CD247	ORPHA:85408
HP:0040068	Abnormality of limb bone	3559	IL2RA	ORPHA:85408
HP:0040068	Abnormality of limb bone	5771	PTPN2	ORPHA:85408
HP:0040068	Abnormality of limb bone	6872	TAF1	OMIM:300966
HP:0040068	Abnormality of limb bone	3835	KIF22	OMIM:603546
HP:0040068	Abnormality of limb bone	84340	GFM2	ORPHA:565624
HP:0040068	Abnormality of limb bone	6840	SVIL	OMIM:619040
HP:0040068	Abnormality of limb bone	342035	GLDN	OMIM:617194
HP:0040068	Abnormality of limb bone	57190	SELENON	ORPHA:2020
HP:0040068	Abnormality of limb bone	4633	MYL2	ORPHA:2020
HP:0040068	Abnormality of limb bone	3679	ITGA7	ORPHA:2020
HP:0040068	Abnormality of limb bone	9200	HACD1	ORPHA:2020
HP:0040068	Abnormality of limb bone	7170	TPM3	ORPHA:2020
HP:0040068	Abnormality of limb bone	28982	FLVCR1	ORPHA:88628
HP:0040068	Abnormality of limb bone	28982	FLVCR1	OMIM:609033
HP:0040068	Abnormality of limb bone	6399	TRAPPC2	ORPHA:93284
HP:0040068	Abnormality of limb bone	5696	PSMB8	OMIM:256040
HP:0040068	Abnormality of limb bone	5692	PSMB4	OMIM:617591
HP:0040068	Abnormality of limb bone	5698	PSMB9	OMIM:617591
HP:0040068	Abnormality of limb bone	4952	OCRL	OMIM:309000
HP:0040068	Abnormality of limb bone	83932	SPRTN	OMIM:616200
HP:0040068	Abnormality of limb bone	26012	NSMF	OMIM:614838
HP:0040068	Abnormality of limb bone	55780	ERMARD	ORPHA:75857
HP:0040068	Abnormality of limb bone	10559	SLC35A1	OMIM:603585
HP:0040068	Abnormality of limb bone	84720	PIGO	ORPHA:247262
HP:0040068	Abnormality of limb bone	93210	PGAP3	ORPHA:247262
HP:0040068	Abnormality of limb bone	284098	PIGW	ORPHA:247262
HP:0040068	Abnormality of limb bone	27315	PGAP2	ORPHA:247262
HP:0040068	Abnormality of limb bone	10584	COLEC10	OMIM:248340
HP:0040068	Abnormality of limb bone	92579	G6PC3	OMIM:612541
HP:0040068	Abnormality of limb bone	23512	SUZ12	OMIM:618786
HP:0040068	Abnormality of limb bone	8558	CDK10	OMIM:617694
HP:0040068	Abnormality of limb bone	8085	KMT2D	OMIM:620186
HP:0040068	Abnormality of limb bone	23137	SMC5	OMIM:620185
HP:0040068	Abnormality of limb bone	79759	ZNF668	OMIM:620194
HP:0040068	Abnormality of limb bone	27086	FOXP1	ORPHA:391372
HP:0040068	Abnormality of limb bone	56098	PCDHGC4	OMIM:619880
HP:0040068	Abnormality of limb bone	8621	CDK13	OMIM:617360
HP:0040068	Abnormality of limb bone	5881	RAC3	OMIM:618577
HP:0040068	Abnormality of limb bone	5426	POLE	OMIM:618336
HP:0040068	Abnormality of limb bone	6664	SOX11	OMIM:615866
HP:0040068	Abnormality of limb bone	6664	SOX11	ORPHA:1465
HP:0040068	Abnormality of limb bone	54892	NCAPG2	OMIM:618460
HP:0040068	Abnormality of limb bone	55315	SLC29A3	OMIM:602782
HP:0040068	Abnormality of limb bone	999	CDH1	OMIM:119580
HP:0040068	Abnormality of limb bone	23511	NUP188	OMIM:618804
HP:0040068	Abnormality of limb bone	6597	SMARCA4	ORPHA:1465
HP:0040068	Abnormality of limb bone	6601	SMARCC2	ORPHA:1465
HP:0040068	Abnormality of limb bone	6602	SMARCD1	ORPHA:1465
HP:0040068	Abnormality of limb bone	83737	ITCH	OMIM:613385
HP:0040068	Abnormality of limb bone	83737	ITCH	ORPHA:228426
HP:0040068	Abnormality of limb bone	93587	TRMT10A	ORPHA:391408
HP:0040068	Abnormality of limb bone	84919	PPP1R15B	ORPHA:391408
HP:0040068	Abnormality of limb bone	6748	SSR4	OMIM:300934
HP:0040068	Abnormality of limb bone	9320	TRIP12	OMIM:617752
HP:0040068	Abnormality of limb bone	84231	TRAF7	OMIM:618164
HP:0040068	Abnormality of limb bone	11043	MID2	OMIM:300928
HP:0040068	Abnormality of limb bone	5286	PIK3C2A	ORPHA:557003
HP:0040068	Abnormality of limb bone	23309	SIN3B	ORPHA:500166
HP:0040068	Abnormality of limb bone	100	ADA	OMIM:102700
HP:0040068	Abnormality of limb bone	54187	NANS	OMIM:610442
HP:0040068	Abnormality of limb bone	23761	PISD	OMIM:618889
HP:0040068	Abnormality of limb bone	64132	XYLT2	OMIM:605822
HP:0040068	Abnormality of limb bone	10312	TCIRG1	OMIM:259700
HP:0040068	Abnormality of limb bone	8792	TNFRSF11A	OMIM:612301
HP:0040068	Abnormality of limb bone	221496	LEMD2	OMIM:619322
HP:0040068	Abnormality of limb bone	2688	GH1	OMIM:612781
HP:0040068	Abnormality of limb bone	128	ADH5	OMIM:619151
HP:0040068	Abnormality of limb bone	26175	LYSET	OMIM:619345
HP:0040068	Abnormality of limb bone	126129	CPT1C	OMIM:616282
HP:0040068	Abnormality of limb bone	1747	DLX3	ORPHA:3352
HP:0040068	Abnormality of limb bone	3767	KCNJ11	ORPHA:79134
HP:0040068	Abnormality of limb bone	79731	NARS2	ORPHA:79134
HP:0040068	Abnormality of limb bone	6833	ABCC8	ORPHA:79134
HP:0040068	Abnormality of limb bone	175	AGA	ORPHA:93
HP:0040068	Abnormality of limb bone	25923	ATL3	OMIM:615632
HP:0040068	Abnormality of limb bone	55858	TMEM165	OMIM:614727
HP:0040068	Abnormality of limb bone	1063	CENPF	OMIM:243605
HP:0040068	Abnormality of limb bone	26047	CNTNAP2	ORPHA:163681
HP:0040068	Abnormality of limb bone	9371	KIF3B	OMIM:618955
HP:0040068	Abnormality of limb bone	286204	CRB2	OMIM:219730
HP:0040068	Abnormality of limb bone	57511	COG6	OMIM:614576
HP:0040068	Abnormality of limb bone	84300	UQCC2	OMIM:615824
HP:0040068	Abnormality of limb bone	5528	PPP2R5D	ORPHA:457279
HP:0040068	Abnormality of limb bone	2218	FKTN	ORPHA:272
HP:0040068	Abnormality of limb bone	7355	SLC35A2	ORPHA:356961
HP:0040068	Abnormality of limb bone	54968	TMEM70	ORPHA:1194
HP:0040068	Abnormality of limb bone	84466	MEGF10	OMIM:614399
HP:0040068	Abnormality of limb bone	3508	IGHMBP2	OMIM:604320
HP:0040068	Abnormality of limb bone	64127	NOD2	OMIM:186580
HP:0040068	Abnormality of limb bone	64127	NOD2	ORPHA:90340
HP:0040068	Abnormality of limb bone	4593	MUSK	OMIM:208150
HP:0040068	Abnormality of limb bone	4593	MUSK	ORPHA:994
HP:0040068	Abnormality of limb bone	5189	PEX1	ORPHA:3220
HP:0040068	Abnormality of limb bone	5190	PEX6	ORPHA:3220
HP:0040068	Abnormality of limb bone	23102	TBC1D2B	OMIM:619323
HP:0040068	Abnormality of limb bone	2068	ERCC2	OMIM:610756
HP:0040068	Abnormality of limb bone	2068	ERCC2	ORPHA:1466
HP:0040068	Abnormality of limb bone	2073	ERCC5	ORPHA:1466
HP:0040068	Abnormality of limb bone	4927	NUP88	ORPHA:994
HP:0040068	Abnormality of limb bone	7846	TUBA1A	ORPHA:994
HP:0040068	Abnormality of limb bone	5913	RAPSN	ORPHA:994
HP:0040068	Abnormality of limb bone	6572	SLC18A3	ORPHA:994
HP:0040068	Abnormality of limb bone	285489	DOK7	ORPHA:994
HP:0040068	Abnormality of limb bone	23443	SLC35A3	OMIM:615553
HP:0040068	Abnormality of limb bone	25914	RTTN	ORPHA:468631
HP:0040068	Abnormality of limb bone	26092	TOR1AIP1	OMIM:617072
HP:0040068	Abnormality of limb bone	55651	NHP2	ORPHA:1775
HP:0040068	Abnormality of limb bone	79650	USB1	ORPHA:1775
HP:0040068	Abnormality of limb bone	55135	WRAP53	ORPHA:1775
HP:0040068	Abnormality of limb bone	4869	NPM1	ORPHA:1775
HP:0040068	Abnormality of limb bone	55505	NOP10	ORPHA:1775
HP:0040068	Abnormality of limb bone	1736	DKC1	ORPHA:1775
HP:0040068	Abnormality of limb bone	7298	TYMS	ORPHA:1775
HP:0040068	Abnormality of limb bone	2554	GABRA1	ORPHA:33069
HP:0040068	Abnormality of limb bone	57526	PCDH19	ORPHA:33069
HP:0040068	Abnormality of limb bone	2566	GABRG2	ORPHA:33069
HP:0040068	Abnormality of limb bone	2566	GABRG2	ORPHA:36387
HP:0040068	Abnormality of limb bone	112755	STX1B	ORPHA:36387
HP:0040068	Abnormality of limb bone	348980	HCN1	ORPHA:36387
HP:0040068	Abnormality of limb bone	84059	ADGRV1	ORPHA:36387
HP:0040068	Abnormality of limb bone	2212	FCGR2A	OMIM:219700
HP:0040068	Abnormality of limb bone	3071	NCKAP1L	OMIM:618982
HP:0040068	Abnormality of limb bone	7015	TERT	OMIM:614742
HP:0040068	Abnormality of limb bone	7015	TERT	ORPHA:2032
HP:0040068	Abnormality of limb bone	7015	TERT	OMIM:178500
HP:0040068	Abnormality of limb bone	987	LRBA	OMIM:614700
HP:0040068	Abnormality of limb bone	729238	SFTPA2	ORPHA:2032
HP:0040068	Abnormality of limb bone	729238	SFTPA2	OMIM:178500
HP:0040068	Abnormality of limb bone	79991	STN1	ORPHA:2032
HP:0040068	Abnormality of limb bone	727897	MUC5B	ORPHA:2032
HP:0040068	Abnormality of limb bone	727897	MUC5B	OMIM:178500
HP:0040068	Abnormality of limb bone	10144	FAM13A	ORPHA:2032
HP:0040068	Abnormality of limb bone	23250	ATP11A	ORPHA:2032
HP:0040068	Abnormality of limb bone	91039	DPP9	ORPHA:2032
HP:0040068	Abnormality of limb bone	51750	RTEL1	ORPHA:2032
HP:0040068	Abnormality of limb bone	7012	TERC	ORPHA:2032
HP:0040068	Abnormality of limb bone	5073	PARN	ORPHA:2032
HP:0040068	Abnormality of limb bone	440275	EIF2AK4	ORPHA:199241
HP:0040068	Abnormality of limb bone	10568	SLC34A2	ORPHA:60025
HP:0040068	Abnormality of limb bone	8884	SLC5A6	OMIM:618973
HP:0040068	Abnormality of limb bone	10125	RASGRP1	OMIM:618534
HP:0040068	Abnormality of limb bone	59067	IL21	OMIM:615767
HP:0040068	Abnormality of limb bone	79651	RHBDF2	ORPHA:2198
HP:0040068	Abnormality of limb bone	7092	TLL1	ORPHA:99106
HP:0040068	Abnormality of limb bone	274	BIN1	ORPHA:169186
HP:0040068	Abnormality of limb bone	10290	SPEG	ORPHA:169186
HP:0040068	Abnormality of limb bone	6261	RYR1	ORPHA:169186
HP:0040068	Abnormality of limb bone	7273	TTN	ORPHA:169186
HP:0040068	Abnormality of limb bone	57459	GATAD2B	OMIM:615074
HP:0040068	Abnormality of limb bone	57459	GATAD2B	ORPHA:363686
HP:0040068	Abnormality of limb bone	1281	COL3A1	OMIM:618343
HP:0040068	Abnormality of limb bone	51520	LARS1	OMIM:615438
HP:0040068	Abnormality of limb bone	116931	MED12L	OMIM:618872
HP:0040068	Abnormality of limb bone	203068	TUBB	OMIM:156610
HP:0040068	Abnormality of limb bone	9772	TMEM94	OMIM:618316
HP:0040068	Abnormality of limb bone	79971	WLS	OMIM:619648
HP:0040068	Abnormality of limb bone	2556	GABRA3	OMIM:301091
HP:0040068	Abnormality of limb bone	5373	PMM2	ORPHA:79318
HP:0040068	Abnormality of limb bone	7528	YY1	OMIM:617557
HP:0040068	Abnormality of limb bone	55768	NGLY1	ORPHA:404454
HP:0040068	Abnormality of limb bone	9842	PLEKHM1	OMIM:611497
HP:0040068	Abnormality of limb bone	79705	LRRK1	OMIM:615198
HP:0040068	Abnormality of limb bone	781	CACNA2D1	OMIM:620149
HP:0040068	Abnormality of limb bone	123263	MTFMT	OMIM:614947
HP:0040068	Abnormality of limb bone	7486	WRN	ORPHA:902
HP:0040068	Abnormality of limb bone	388662	SLC6A17	OMIM:616269
HP:0040068	Abnormality of limb bone	1801	DPH1	ORPHA:459061
HP:0040070	Abnormal upper limb bone morphology	2588	GALNS	OMIM:253000
HP:0040070	Abnormal upper limb bone morphology	2137	EXTL3	ORPHA:508533
HP:0040070	Abnormal upper limb bone morphology	1836	SLC26A2	ORPHA:56304
HP:0040070	Abnormal upper limb bone morphology	4921	DDR2	OMIM:271665
HP:0040070	Abnormal upper limb bone morphology	2200	FBN1	OMIM:608328
HP:0040070	Abnormal upper limb bone morphology	4882	NPR2	OMIM:602875
HP:0040070	Abnormal upper limb bone morphology	7030	TFE3	OMIM:301066
HP:0040070	Abnormal upper limb bone morphology	9742	IFT140	OMIM:266920
HP:0040070	Abnormal upper limb bone morphology	5144	PDE4D	ORPHA:439822
HP:0040070	Abnormal upper limb bone morphology	1788	DNMT3A	OMIM:618724
HP:0040070	Abnormal upper limb bone morphology	2720	GLB1	ORPHA:79255
HP:0040070	Abnormal upper limb bone morphology	3549	IHH	ORPHA:93388
HP:0040070	Abnormal upper limb bone morphology	658	BMPR1B	ORPHA:93388
HP:0040070	Abnormal upper limb bone morphology	81794	ADAMTS10	OMIM:277600
HP:0040070	Abnormal upper limb bone morphology	4313	MMP2	ORPHA:371428
HP:0040070	Abnormal upper limb bone morphology	4313	MMP2	OMIM:259600
HP:0040070	Abnormal upper limb bone morphology	4323	MMP14	ORPHA:371428
HP:0040070	Abnormal upper limb bone morphology	4323	MMP14	OMIM:277950
HP:0040070	Abnormal upper limb bone morphology	9935	MAFB	OMIM:166300
HP:0040070	Abnormal upper limb bone morphology	9935	MAFB	ORPHA:2774
HP:0040070	Abnormal upper limb bone morphology	4091	SMAD6	OMIM:179300
HP:0040070	Abnormal upper limb bone morphology	5648	MASP1	OMIM:257920
HP:0040070	Abnormal upper limb bone morphology	5648	MASP1	ORPHA:293843
HP:0040070	Abnormal upper limb bone morphology	6804	STX1A	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	7461	CLIP2	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	84277	DNAJC30	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	8468	FKBP6	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	5982	RFC2	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	2969	GTF2I	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	3984	LIMK1	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	155382	VPS37D	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	155368	METTL27	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	114049	BUD23	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	7458	EIF4H	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	9275	BCL7B	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	26608	TBL2	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	653361	NCF1	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	135886	TMEM270	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	51085	MLXIPL	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	51085	MLXIPL	OMIM:194050
HP:0040070	Abnormal upper limb bone morphology	9031	BAZ1B	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	2006	ELN	ORPHA:904
HP:0040070	Abnormal upper limb bone morphology	2006	ELN	OMIM:194050
HP:0040070	Abnormal upper limb bone morphology	2122	MECOM	ORPHA:71289
HP:0040070	Abnormal upper limb bone morphology	2122	MECOM	OMIM:616738
HP:0040070	Abnormal upper limb bone morphology	78989	COLEC11	OMIM:265050
HP:0040070	Abnormal upper limb bone morphology	78989	COLEC11	ORPHA:293843
HP:0040070	Abnormal upper limb bone morphology	54880	BCOR	OMIM:300166
HP:0040070	Abnormal upper limb bone morphology	54880	BCOR	ORPHA:2712
HP:0040070	Abnormal upper limb bone morphology	4094	MAF	ORPHA:1272
HP:0040070	Abnormal upper limb bone morphology	4094	MAF	OMIM:601088
HP:0040070	Abnormal upper limb bone morphology	29998	BICRA	OMIM:619325
HP:0040070	Abnormal upper limb bone morphology	23522	KAT6B	ORPHA:85201
HP:0040070	Abnormal upper limb bone morphology	23522	KAT6B	OMIM:606170
HP:0040070	Abnormal upper limb bone morphology	63895	PIEZO2	OMIM:248700
HP:0040070	Abnormal upper limb bone morphology	63895	PIEZO2	ORPHA:2461
HP:0040070	Abnormal upper limb bone morphology	10584	COLEC10	OMIM:248340
HP:0040070	Abnormal upper limb bone morphology	10584	COLEC10	ORPHA:293843
HP:0040070	Abnormal upper limb bone morphology	50945	TBX22	OMIM:302905
HP:0040070	Abnormal upper limb bone morphology	50945	TBX22	ORPHA:921
HP:0040070	Abnormal upper limb bone morphology	22800	RRAS2	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	867	CBL	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	8216	LZTR1	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	6016	RIT1	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	6237	RRAS	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	5894	RAF1	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	22808	MRAS	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	3845	KRAS	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	200734	SPRED2	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	4893	NRAS	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	6654	SOS1	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	6655	SOS2	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	5781	PTPN11	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	5922	RASA2	ORPHA:648
HP:0040070	Abnormal upper limb bone morphology	55790	CSGALNACT1	ORPHA:1425
HP:0040070	Abnormal upper limb bone morphology	28981	IFT81	OMIM:617895
HP:0040070	Abnormal upper limb bone morphology	92002	CCNQ	ORPHA:140952
HP:0040070	Abnormal upper limb bone morphology	2255	FGF10	ORPHA:2363
HP:0040070	Abnormal upper limb bone morphology	6223	RPS19	OMIM:105650
HP:0040070	Abnormal upper limb bone morphology	8074	FGF23	OMIM:617993
HP:0040070	Abnormal upper limb bone morphology	91147	TMEM67	OMIM:602152
HP:0040070	Abnormal upper limb bone morphology	79659	DYNC2H1	OMIM:613091
HP:0040070	Abnormal upper limb bone morphology	51604	PIGT	OMIM:615398
HP:0040070	Abnormal upper limb bone morphology	9820	CUL7	ORPHA:2616
HP:0040070	Abnormal upper limb bone morphology	23363	OBSL1	ORPHA:2616
HP:0040070	Abnormal upper limb bone morphology	83987	CCDC8	ORPHA:2616
HP:0040070	Abnormal upper limb bone morphology	1723	DHODH	OMIM:263750
HP:0040070	Abnormal upper limb bone morphology	1723	DHODH	ORPHA:246
HP:0040070	Abnormal upper limb bone morphology	182	JAG1	OMIM:118450
HP:0040070	Abnormal upper limb bone morphology	324	APC	ORPHA:3258
HP:0040070	Abnormal upper limb bone morphology	567	B2M	OMIM:241600
HP:0040070	Abnormal upper limb bone morphology	55636	CHD7	OMIM:214800
HP:0040070	Abnormal upper limb bone morphology	1301	COL11A1	OMIM:154780
HP:0040070	Abnormal upper limb bone morphology	57020	VPS35L	OMIM:619135
HP:0040070	Abnormal upper limb bone morphology	54101	RIPK4	OMIM:263650
HP:0040070	Abnormal upper limb bone morphology	112752	IFT43	OMIM:617866
HP:0040070	Abnormal upper limb bone morphology	2263	FGFR2	OMIM:207410
HP:0040070	Abnormal upper limb bone morphology	2261	FGFR3	OMIM:100800
HP:0040070	Abnormal upper limb bone morphology	3207	HOXA11	OMIM:605432
HP:0040070	Abnormal upper limb bone morphology	3911	LAMA5	OMIM:620076
HP:0040070	Abnormal upper limb bone morphology	9791	PTDSS1	OMIM:151050
HP:0040070	Abnormal upper limb bone morphology	7476	WNT7A	ORPHA:2879
HP:0040070	Abnormal upper limb bone morphology	7476	WNT7A	OMIM:276820
HP:0040070	Abnormal upper limb bone morphology	56603	CYP26B1	OMIM:614416
HP:0040070	Abnormal upper limb bone morphology	2317	FLNB	ORPHA:56305
HP:0040070	Abnormal upper limb bone morphology	2317	FLNB	ORPHA:1263
HP:0040070	Abnormal upper limb bone morphology	6926	TBX3	ORPHA:3138
HP:0040070	Abnormal upper limb bone morphology	2131	EXT1	OMIM:133700
HP:0040070	Abnormal upper limb bone morphology	2132	EXT2	OMIM:133701
HP:0040070	Abnormal upper limb bone morphology	11285	B4GALT7	OMIM:130070
HP:0040070	Abnormal upper limb bone morphology	1182	CLCN3	OMIM:619512
HP:0040070	Abnormal upper limb bone morphology	85301	COL27A1	OMIM:615155
HP:0040070	Abnormal upper limb bone morphology	1387	CREBBP	OMIM:180849
HP:0040070	Abnormal upper limb bone morphology	2033	EP300	OMIM:180849
HP:0040070	Abnormal upper limb bone morphology	23233	EXOC6B	ORPHA:93359
HP:0040070	Abnormal upper limb bone morphology	23233	EXOC6B	OMIM:618395
HP:0040070	Abnormal upper limb bone morphology	126792	B3GALT6	ORPHA:93359
HP:0040070	Abnormal upper limb bone morphology	126792	B3GALT6	OMIM:271640
HP:0040070	Abnormal upper limb bone morphology	4010	LMX1B	ORPHA:2614
HP:0040070	Abnormal upper limb bone morphology	6885	MAP3K7	OMIM:617137
HP:0040070	Abnormal upper limb bone morphology	6885	MAP3K7	ORPHA:1826
HP:0040070	Abnormal upper limb bone morphology	10847	SRCAP	OMIM:136140
HP:0040070	Abnormal upper limb bone morphology	10847	SRCAP	ORPHA:2044
HP:0040070	Abnormal upper limb bone morphology	8318	CDC45	OMIM:617063
HP:0040070	Abnormal upper limb bone morphology	6662	SOX9	OMIM:114290
HP:0040070	Abnormal upper limb bone morphology	10225	CD96	OMIM:211750
HP:0040070	Abnormal upper limb bone morphology	10225	CD96	ORPHA:1308
HP:0040070	Abnormal upper limb bone morphology	2067	ERCC1	OMIM:610758
HP:0040070	Abnormal upper limb bone morphology	1146	CHRNG	OMIM:265000
HP:0040070	Abnormal upper limb bone morphology	6497	SKI	OMIM:182212
HP:0040070	Abnormal upper limb bone morphology	2316	FLNA	OMIM:305620
HP:0040070	Abnormal upper limb bone morphology	2316	FLNA	ORPHA:1826
HP:0040070	Abnormal upper limb bone morphology	2316	FLNA	OMIM:311300
HP:0040070	Abnormal upper limb bone morphology	57492	ARID1B	OMIM:135900
HP:0040070	Abnormal upper limb bone morphology	3899	AFF3	OMIM:619297
HP:0040070	Abnormal upper limb bone morphology	9469	CHST3	OMIM:143095
HP:0040070	Abnormal upper limb bone morphology	9469	CHST3	OMIM:245600
HP:0040070	Abnormal upper limb bone morphology	4853	NOTCH2	OMIM:102500
HP:0040070	Abnormal upper limb bone morphology	25836	NIPBL	OMIM:122470
HP:0040070	Abnormal upper limb bone morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0040070	Abnormal upper limb bone morphology	7474	WNT5A	OMIM:180700
HP:0040070	Abnormal upper limb bone morphology	1855	DVL1	OMIM:180700
HP:0040070	Abnormal upper limb bone morphology	1277	COL1A1	ORPHA:287
HP:0040070	Abnormal upper limb bone morphology	1289	COL5A1	ORPHA:287
HP:0040070	Abnormal upper limb bone morphology	1290	COL5A2	ORPHA:287
HP:0040070	Abnormal upper limb bone morphology	26229	B3GAT3	OMIM:245600
HP:0040070	Abnormal upper limb bone morphology	3897	L1CAM	OMIM:304100
HP:0040070	Abnormal upper limb bone morphology	171023	ASXL1	OMIM:605039
HP:0040070	Abnormal upper limb bone morphology	6913	TBX15	OMIM:260660
HP:0040070	Abnormal upper limb bone morphology	91252	SLC39A13	OMIM:612350
HP:0040070	Abnormal upper limb bone morphology	545	ATR	OMIM:210600
HP:0040070	Abnormal upper limb bone morphology	649	BMP1	OMIM:614856
HP:0040070	Abnormal upper limb bone morphology	29980	DONSON	OMIM:617604
HP:0040070	Abnormal upper limb bone morphology	5573	PRKAR1A	OMIM:101800
HP:0040070	Abnormal upper limb bone morphology	90993	CREB3L1	OMIM:616229
HP:0040070	Abnormal upper limb bone morphology	6678	SPARC	OMIM:616507
HP:0040070	Abnormal upper limb bone morphology	340419	RSPO2	OMIM:618022
HP:0040070	Abnormal upper limb bone morphology	26175	LYSET	OMIM:619345
HP:0040070	Abnormal upper limb bone morphology	1280	COL2A1	ORPHA:166011
HP:0040070	Abnormal upper limb bone morphology	5593	PRKG2	OMIM:619636
HP:0040070	Abnormal upper limb bone morphology	4796	TONSL	ORPHA:93357
HP:0040070	Abnormal upper limb bone morphology	59341	TRPV4	ORPHA:93314
HP:0040070	Abnormal upper limb bone morphology	2778	GNAS	ORPHA:94089
HP:0040070	Abnormal upper limb bone morphology	8675	STX16	ORPHA:94089
HP:0040070	Abnormal upper limb bone morphology	2146	EZH2	OMIM:277590
HP:0040070	Abnormal upper limb bone morphology	22858	CILK1	OMIM:612651
HP:0040070	Abnormal upper limb bone morphology	1123	CHN1	ORPHA:233
HP:0040070	Abnormal upper limb bone morphology	202018	TAPT1	OMIM:616897
HP:0040070	Abnormal upper limb bone morphology	8792	TNFRSF11A	OMIM:602080
HP:0040070	Abnormal upper limb bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0040070	Abnormal upper limb bone morphology	6638	SNRPN	ORPHA:177910
HP:0040070	Abnormal upper limb bone morphology	4692	NDN	ORPHA:177910
HP:0040070	Abnormal upper limb bone morphology	54551	MAGEL2	ORPHA:177910
HP:0040070	Abnormal upper limb bone morphology	64682	ANAPC1	ORPHA:221008
HP:0040070	Abnormal upper limb bone morphology	1300	COL10A1	ORPHA:174
HP:0040070	Abnormal upper limb bone morphology	54809	SAMD9	OMIM:617053
HP:0040070	Abnormal upper limb bone morphology	2737	GLI3	ORPHA:93322
HP:0040070	Abnormal upper limb bone morphology	633	BGN	OMIM:300106
HP:0040070	Abnormal upper limb bone morphology	54808	DYM	OMIM:223800
HP:0040070	Abnormal upper limb bone morphology	2535	FZD2	OMIM:164745
HP:0040070	Abnormal upper limb bone morphology	10082	GPC6	OMIM:258315
HP:0040070	Abnormal upper limb bone morphology	10082	GPC6	ORPHA:93329
HP:0040070	Abnormal upper limb bone morphology	22856	CHSY1	ORPHA:363417
HP:0040070	Abnormal upper limb bone morphology	387733	IFITM5	OMIM:610967
HP:0040070	Abnormal upper limb bone morphology	4920	ROR2	OMIM:268310
HP:0040070	Abnormal upper limb bone morphology	1311	COMP	ORPHA:750
HP:0040070	Abnormal upper limb bone morphology	9361	LONP1	OMIM:600373
HP:0040070	Abnormal upper limb bone morphology	6628	SNRPB	OMIM:117650
HP:0040070	Abnormal upper limb bone morphology	10588	MTHFS	OMIM:618367
HP:0040070	Abnormal upper limb bone morphology	9851	KIAA0753	OMIM:619479
HP:0040070	Abnormal upper limb bone morphology	23483	TGDS	OMIM:616145
HP:0040070	Abnormal upper limb bone morphology	11128	POLR3A	OMIM:264090
HP:0040070	Abnormal upper limb bone morphology	11128	POLR3A	ORPHA:3455
HP:0040070	Abnormal upper limb bone morphology	55764	IFT122	OMIM:218330
HP:0040070	Abnormal upper limb bone morphology	79087	ALG12	OMIM:607143
HP:0040070	Abnormal upper limb bone morphology	157570	ESCO2	OMIM:268300
HP:0040070	Abnormal upper limb bone morphology	4982	TNFRSF11B	OMIM:239000
HP:0040070	Abnormal upper limb bone morphology	114803	MYSM1	ORPHA:508542
HP:0040070	Abnormal upper limb bone morphology	8540	AGPS	OMIM:600121
HP:0040070	Abnormal upper limb bone morphology	7547	ZIC3	OMIM:314390
HP:0040070	Abnormal upper limb bone morphology	8802	SUCLG1	ORPHA:17
HP:0040070	Abnormal upper limb bone morphology	5830	PEX5	OMIM:616716
HP:0040070	Abnormal upper limb bone morphology	6473	SHOX	ORPHA:314795
HP:0040070	Abnormal upper limb bone morphology	8823	FGF16	OMIM:309630
HP:0040070	Abnormal upper limb bone morphology	64093	SMOC1	OMIM:206920
HP:0040070	Abnormal upper limb bone morphology	9775	EIF4A3	OMIM:268305
HP:0040070	Abnormal upper limb bone morphology	9241	NOG	ORPHA:3250
HP:0040070	Abnormal upper limb bone morphology	9241	NOG	OMIM:185800
HP:0040070	Abnormal upper limb bone morphology	8200	GDF5	ORPHA:3250
HP:0040070	Abnormal upper limb bone morphology	8626	TP63	OMIM:605289
HP:0040070	Abnormal upper limb bone morphology	29957	SLC25A24	ORPHA:2095
HP:0040070	Abnormal upper limb bone morphology	285590	SH3PXD2B	ORPHA:137834
HP:0040070	Abnormal upper limb bone morphology	5728	PTEN	ORPHA:744
HP:0040070	Abnormal upper limb bone morphology	207	AKT1	ORPHA:744
HP:0040070	Abnormal upper limb bone morphology	3516	RBPJ	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	4851	NOTCH1	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	57514	ARHGAP31	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	57572	DOCK6	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	285203	EOGT	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	54567	DLL4	ORPHA:974
HP:0040070	Abnormal upper limb bone morphology	8195	MKKS	ORPHA:2473
HP:0040070	Abnormal upper limb bone morphology	1186	CLCN7	ORPHA:53
HP:0040070	Abnormal upper limb bone morphology	51763	INPP5K	ORPHA:559
HP:0040070	Abnormal upper limb bone morphology	860	RUNX2	OMIM:119600
HP:0040070	Abnormal upper limb bone morphology	4750	NEK1	ORPHA:2751
HP:0040070	Abnormal upper limb bone morphology	4784	NFIX	OMIM:602535
HP:0040070	Abnormal upper limb bone morphology	9365	KL	OMIM:617994
HP:0040070	Abnormal upper limb bone morphology	2879	GPX4	OMIM:250220
HP:0040070	Abnormal upper limb bone morphology	11342	RNF13	ORPHA:544503
HP:0040070	Abnormal upper limb bone morphology	29895	MYL11	OMIM:619110
HP:0040070	Abnormal upper limb bone morphology	2332	FMR1	OMIM:300624
HP:0040070	Abnormal upper limb bone morphology	2990	GUSB	OMIM:253220
HP:0040070	Abnormal upper limb bone morphology	65250	CPLANE1	OMIM:277170
HP:0040070	Abnormal upper limb bone morphology	65250	CPLANE1	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	27152	INTU	OMIM:617926
HP:0040070	Abnormal upper limb bone morphology	10210	TOPORS	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	26123	TCTN3	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	5147	PDE6D	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	51259	TMEM216	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	8481	OFD1	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	317662	FAM149B1	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	374654	KIF7	ORPHA:2754
HP:0040070	Abnormal upper limb bone morphology	9719	ADAMTSL2	OMIM:231050
HP:0040070	Abnormal upper limb bone morphology	4041	LRP5	OMIM:144750
HP:0040070	Abnormal upper limb bone morphology	6299	SALL1	OMIM:107480
HP:0040070	Abnormal upper limb bone morphology	64135	IFIH1	OMIM:182250
HP:0040070	Abnormal upper limb bone morphology	3835	KIF22	ORPHA:93360
HP:0040070	Abnormal upper limb bone morphology	91179	SCARF2	OMIM:600920
HP:0040070	Abnormal upper limb bone morphology	79158	GNPTAB	OMIM:252500
HP:0040070	Abnormal upper limb bone morphology	27125	AFF4	ORPHA:444077
HP:0040070	Abnormal upper limb bone morphology	8241	RBM10	ORPHA:2886
HP:0040070	Abnormal upper limb bone morphology	5980	REV3L	ORPHA:570
HP:0040070	Abnormal upper limb bone morphology	23129	PLXND1	ORPHA:570
HP:0040070	Abnormal upper limb bone morphology	4318	MMP9	ORPHA:1040
HP:0040070	Abnormal upper limb bone morphology	4322	MMP13	ORPHA:1040
HP:0040070	Abnormal upper limb bone morphology	6910	TBX5	ORPHA:392
HP:0040070	Abnormal upper limb bone morphology	9401	RECQL4	ORPHA:1225
HP:0040070	Abnormal upper limb bone morphology	9401	RECQL4	OMIM:266280
HP:0040070	Abnormal upper limb bone morphology	7140	TNNT3	ORPHA:1147
HP:0040070	Abnormal upper limb bone morphology	4621	MYH3	ORPHA:1147
HP:0040070	Abnormal upper limb bone morphology	7169	TPM2	ORPHA:1147
HP:0040070	Abnormal upper limb bone morphology	259232	NALCN	ORPHA:1147
HP:0040070	Abnormal upper limb bone morphology	7136	TNNI2	ORPHA:1147
HP:0040070	Abnormal upper limb bone morphology	672	BRCA1	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	10459	MAD2L2	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	7516	XRCC2	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	29089	UBE2T	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	675	BRCA2	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	55120	FANCL	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2177	FANCD2	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2175	FANCA	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2187	FANCB	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2176	FANCC	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2178	FANCE	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2188	FANCF	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2189	FANCG	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	5888	RAD51	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	5889	RAD51C	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	55159	RFWD3	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	83990	BRIP1	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	57697	FANCM	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	79728	PALB2	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	84464	SLX4	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	2072	ERCC4	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	55215	FANCI	ORPHA:84
HP:0040070	Abnormal upper limb bone morphology	7040	TGFB1	ORPHA:1328
HP:0040070	Abnormal upper limb bone morphology	10262	SF3B4	ORPHA:1788
HP:0040070	Abnormal upper limb bone morphology	10262	SF3B4	ORPHA:245
HP:0040070	Abnormal upper limb bone morphology	3239	HOXD13	ORPHA:887
HP:0040070	Abnormal upper limb bone morphology	60681	FKBP10	ORPHA:1149
HP:0040070	Abnormal upper limb bone morphology	2260	FGFR1	ORPHA:2117
HP:0040070	Abnormal upper limb bone morphology	9555	MACROH2A1	ORPHA:1275
HP:0040070	Abnormal upper limb bone morphology	5307	PITX1	ORPHA:1275
HP:0040070	Abnormal upper limb bone morphology	57167	SALL4	ORPHA:959
HP:0040070	Abnormal upper limb bone morphology	1717	DHCR7	ORPHA:818
HP:0040070	Abnormal upper limb bone morphology	64327	LMBR1	ORPHA:93321
HP:0040070	Abnormal upper limb bone morphology	6469	SHH	ORPHA:93321
HP:0040070	Abnormal upper limb bone morphology	538	ATP7A	ORPHA:198
HP:0040070	Abnormal upper limb bone morphology	9939	RBM8A	ORPHA:3320
HP:0040070	Abnormal upper limb bone morphology	9939	RBM8A	OMIM:274000
HP:0040070	Abnormal upper limb bone morphology	145258	GSC	OMIM:602471
HP:0040070	Abnormal upper limb bone morphology	8443	GNPAT	OMIM:222765
HP:0040070	Abnormal upper limb bone morphology	1297	COL9A1	ORPHA:166002
HP:0040070	Abnormal upper limb bone morphology	1298	COL9A2	ORPHA:166002
HP:0040070	Abnormal upper limb bone morphology	54928	BPNT2	OMIM:614078
HP:0040070	Abnormal upper limb bone morphology	25839	COG4	OMIM:618150
HP:0040070	Abnormal upper limb bone morphology	5116	PCNT	OMIM:210720
HP:0040070	Abnormal upper limb bone morphology	6197	RPS6KA3	ORPHA:192
HP:0040070	Abnormal upper limb bone morphology	53834	FGFRL1	OMIM:194190
HP:0040070	Abnormal upper limb bone morphology	1487	CTBP1	OMIM:194190
HP:0040070	Abnormal upper limb bone morphology	3954	LETM1	OMIM:194190
HP:0040070	Abnormal upper limb bone morphology	7468	NSD2	OMIM:194190
HP:0040070	Abnormal upper limb bone morphology	10815	CPLX1	OMIM:194190
HP:0040070	Abnormal upper limb bone morphology	7700	ZNF141	OMIM:615226
HP:0040070	Abnormal upper limb bone morphology	10084	PQBP1	OMIM:309500
HP:0040070	Abnormal upper limb bone morphology	727857	BHLHA9	ORPHA:157801
HP:0040070	Abnormal upper limb bone morphology	2192	FBLN1	OMIM:608180
HP:0040070	Abnormal upper limb bone morphology	2254	FGF9	OMIM:612961
HP:0040070	Abnormal upper limb bone morphology	4038	LRP4	OMIM:212780
HP:0040070	Abnormal upper limb bone morphology	7291	TWIST1	ORPHA:35099
HP:0040070	Abnormal upper limb bone morphology	6938	TCF12	ORPHA:35099
HP:0040070	Abnormal upper limb bone morphology	7545	ZIC1	ORPHA:35099
HP:0040070	Abnormal upper limb bone morphology	4841	NONO	ORPHA:466791
HP:0040070	Abnormal upper limb bone morphology	1281	COL3A1	OMIM:130050
HP:0040070	Abnormal upper limb bone morphology	54463	RETREG1	OMIM:201300
HP:0040070	Abnormal upper limb bone morphology	54463	RETREG1	OMIM:613115
HP:0040070	Abnormal upper limb bone morphology	65125	WNK1	OMIM:201300
HP:0040070	Abnormal upper limb bone morphology	6335	SCN9A	OMIM:201300
HP:0040070	Abnormal upper limb bone morphology	547	KIF1A	OMIM:201300
HP:0040070	Abnormal upper limb bone morphology	1075	CTSC	OMIM:245010
HP:0040070	Abnormal upper limb bone morphology	23586	RIGI	OMIM:616298
HP:0040070	Abnormal upper limb bone morphology	25923	ATL3	OMIM:615632
HP:0040070	Abnormal upper limb bone morphology	427	ASAH1	OMIM:228000
HP:0040070	Abnormal upper limb bone morphology	3248	HPGD	OMIM:259100
HP:0040070	Abnormal upper limb bone morphology	9949	AMMECR1	OMIM:300990
HP:0040070	Abnormal upper limb bone morphology	9653	HS2ST1	OMIM:619194
HP:0040070	Abnormal upper limb bone morphology	2239	GPC4	OMIM:301026
HP:0040070	Abnormal upper limb bone morphology	2239	GPC4	ORPHA:2662
HP:0040070	Abnormal upper limb bone morphology	55209	SETD5	ORPHA:404440
HP:0040070	Abnormal upper limb bone morphology	55209	SETD5	OMIM:615761
HP:0040070	Abnormal upper limb bone morphology	57459	GATAD2B	ORPHA:363686
HP:0040070	Abnormal upper limb bone morphology	6595	SMARCA2	OMIM:601358
HP:0040070	Abnormal upper limb bone morphology	6595	SMARCA2	ORPHA:3051
HP:0040070	Abnormal upper limb bone morphology	23404	EXOSC2	OMIM:617763
HP:0040070	Abnormal upper limb bone morphology	57728	WDR19	OMIM:614378
HP:0040070	Abnormal upper limb bone morphology	79971	WLS	OMIM:619648
HP:0040070	Abnormal upper limb bone morphology	388015	RTL1	ORPHA:96334
HP:0040070	Abnormal upper limb bone morphology	8788	DLK1	ORPHA:96334
HP:0040070	Abnormal upper limb bone morphology	55384	MEG3	ORPHA:96334
HP:0040070	Abnormal upper limb bone morphology	1513	CTSK	ORPHA:763
HP:0040070	Abnormal upper limb bone morphology	1513	CTSK	OMIM:265800
HP:0040070	Abnormal upper limb bone morphology	4000	LMNA	ORPHA:740
HP:0040070	Abnormal upper limb bone morphology	4000	LMNA	OMIM:248370
HP:0040070	Abnormal upper limb bone morphology	4000	LMNA	ORPHA:90153
HP:0040070	Abnormal upper limb bone morphology	10269	ZMPSTE24	ORPHA:740
HP:0040070	Abnormal upper limb bone morphology	10269	ZMPSTE24	OMIM:608612
HP:0040070	Abnormal upper limb bone morphology	10269	ZMPSTE24	OMIM:275210
HP:0040070	Abnormal upper limb bone morphology	10269	ZMPSTE24	ORPHA:90154
HP:0040070	Abnormal upper limb bone morphology	8815	BANF1	OMIM:614008
HP:0040070	Abnormal upper limb bone morphology	10651	MTX2	ORPHA:90153
HP:0040070	Abnormal upper limb bone morphology	5159	PDGFRB	OMIM:601812
HP:0040070	Abnormal upper limb bone morphology	25871	NEPRO	OMIM:618853
HP:0040070	Abnormal upper limb bone morphology	5293	PIK3CD	ORPHA:221139
HP:0040070	Abnormal upper limb bone morphology	90417	KNSTRN	ORPHA:221139
HP:0040070	Abnormal upper limb bone morphology	6792	CDKL5	ORPHA:505652
HP:0040070	Abnormal upper limb bone morphology	79848	CSPP1	ORPHA:397715
HP:0040070	Abnormal upper limb bone morphology	9786	KIAA0586	ORPHA:397715
HP:0040070	Abnormal upper limb bone morphology	4883	NPR3	OMIM:619543
HP:0040070	Abnormal upper limb bone morphology	23476	BRD4	ORPHA:199
HP:0040070	Abnormal upper limb bone morphology	9126	SMC3	ORPHA:199
HP:0040070	Abnormal upper limb bone morphology	8243	SMC1A	ORPHA:199
HP:0040070	Abnormal upper limb bone morphology	55869	HDAC8	ORPHA:199
HP:0040070	Abnormal upper limb bone morphology	5885	RAD21	ORPHA:199
HP:0040070	Abnormal upper limb bone morphology	90	ACVR1	OMIM:135100
HP:0040070	Abnormal upper limb bone morphology	3209	HOXA13	OMIM:140000
HP:0040070	Abnormal upper limb bone morphology	3209	HOXA13	ORPHA:2438
HP:0040070	Abnormal upper limb bone morphology	26040	SETBP1	OMIM:269150
HP:0040070	Abnormal upper limb bone morphology	26040	SETBP1	ORPHA:798
HP:0040070	Abnormal upper limb bone morphology	124583	CANT1	OMIM:251450
HP:0040070	Abnormal upper limb bone morphology	9896	FIG4	ORPHA:3472
HP:0040070	Abnormal upper limb bone morphology	55697	VAC14	ORPHA:3472
HP:0040070	Abnormal upper limb bone morphology	94005	PIGS	OMIM:618143
HP:0040070	Abnormal upper limb bone morphology	6736	SRY	ORPHA:1772
HP:0040070	Abnormal upper limb bone morphology	79633	FAT4	OMIM:615546
HP:0040070	Abnormal upper limb bone morphology	8642	DCHS1	OMIM:601390
HP:0040070	Abnormal upper limb bone morphology	26224	FBXL3	OMIM:606220
HP:0040070	Abnormal upper limb bone morphology	5727	PTCH1	OMIM:109400
HP:0040070	Abnormal upper limb bone morphology	55612	FERMT1	ORPHA:2908
HP:0040070	Abnormal upper limb bone morphology	650	BMP2	OMIM:617877
HP:0040070	Abnormal upper limb bone morphology	374969	SVBP	OMIM:618569
HP:0040070	Abnormal upper limb bone morphology	64374	SIL1	OMIM:248800
HP:0040070	Abnormal upper limb bone morphology	9759	HDAC4	ORPHA:1001
HP:0040070	Abnormal upper limb bone morphology	9759	HDAC4	OMIM:600430
HP:0040070	Abnormal upper limb bone morphology	89970	RSPRY1	OMIM:616723
HP:0040070	Abnormal upper limb bone morphology	89970	RSPRY1	ORPHA:457395
HP:0040070	Abnormal upper limb bone morphology	55733	HHAT	OMIM:600092
HP:0040070	Abnormal upper limb bone morphology	55733	HHAT	ORPHA:1422
HP:0040070	Abnormal upper limb bone morphology	149775	GNAS-AS1	OMIM:603233
HP:0040070	Abnormal upper limb bone morphology	117581	TWIST2	OMIM:200110
HP:0040070	Abnormal upper limb bone morphology	5744	PTHLH	ORPHA:93387
HP:0040070	Abnormal upper limb bone morphology	5744	PTHLH	OMIM:613382
HP:0040070	Abnormal upper limb bone morphology	64175	P3H1	OMIM:610915
HP:0040070	Abnormal upper limb bone morphology	54496	PRMT7	OMIM:617157
HP:0040070	Abnormal upper limb bone morphology	64131	XYLT1	OMIM:615777
HP:0040070	Abnormal upper limb bone morphology	4054	LTBP3	ORPHA:969
HP:0040070	Abnormal upper limb bone morphology	3759	KCNJ2	OMIM:170390
HP:0040070	Abnormal upper limb bone morphology	157680	VPS13B	OMIM:216550
HP:0040070	Abnormal upper limb bone morphology	5139	PDE3A	OMIM:112410
HP:0040070	Abnormal upper limb bone morphology	5139	PDE3A	ORPHA:1276
HP:0040070	Abnormal upper limb bone morphology	5745	PTH1R	ORPHA:50945
HP:0040070	Abnormal upper limb bone morphology	64840	PORCN	OMIM:305600
HP:0040070	Abnormal upper limb bone morphology	145173	B3GLCT	OMIM:261540
HP:0040070	Abnormal upper limb bone morphology	10283	CWC27	OMIM:250410
HP:0040070	Abnormal upper limb bone morphology	10283	CWC27	ORPHA:166035
HP:0040070	Abnormal upper limb bone morphology	4810	NHS	ORPHA:627
HP:0040070	Abnormal upper limb bone morphology	3636	INPPL1	OMIM:258480
HP:0040070	Abnormal upper limb bone morphology	9321	TRIP11	OMIM:184260
HP:0040070	Abnormal upper limb bone morphology	5130	PCYT1A	ORPHA:85167
HP:0040070	Abnormal upper limb bone morphology	5130	PCYT1A	OMIM:608940
HP:0040070	Abnormal upper limb bone morphology	51098	IFT52	OMIM:617102
HP:0040070	Abnormal upper limb bone morphology	1299	COL9A3	OMIM:600969
HP:0040070	Abnormal upper limb bone morphology	4148	MATN3	OMIM:607078
HP:0040070	Abnormal upper limb bone morphology	55252	ASXL2	OMIM:617190
HP:0040070	Abnormal upper limb bone morphology	3930	LBR	OMIM:215140
HP:0040070	Abnormal upper limb bone morphology	5264	PHYH	ORPHA:773
HP:0040070	Abnormal upper limb bone morphology	5191	PEX7	ORPHA:773
HP:0040070	Abnormal upper limb bone morphology	1302	COL11A2	ORPHA:1427
HP:0040070	Abnormal upper limb bone morphology	83452	RAB33B	OMIM:615222
HP:0040070	Abnormal upper limb bone morphology	57560	IFT80	OMIM:611263
HP:0040070	Abnormal upper limb bone morphology	7227	TRPS1	OMIM:190350
HP:0040070	Abnormal upper limb bone morphology	7227	TRPS1	OMIM:190351
HP:0040070	Abnormal upper limb bone morphology	7227	TRPS1	ORPHA:77258
HP:0040070	Abnormal upper limb bone morphology	25886	POC1A	OMIM:614813
HP:0040070	Abnormal upper limb bone morphology	6023	RMRP	OMIM:250460
HP:0040070	Abnormal upper limb bone morphology	64324	NSD1	OMIM:117550
HP:0040070	Abnormal upper limb bone morphology	22827	PUF60	ORPHA:508498
HP:0040070	Abnormal upper limb bone morphology	23394	ADNP	ORPHA:404448
HP:0040070	Abnormal upper limb bone morphology	6477	SIAH1	OMIM:619314
HP:0040070	Abnormal upper limb bone morphology	10059	DNM1L	OMIM:614388
HP:0040070	Abnormal upper limb bone morphology	23314	SATB2	ORPHA:251028
HP:0040070	Abnormal upper limb bone morphology	23314	SATB2	ORPHA:251019
HP:0040070	Abnormal upper limb bone morphology	23314	SATB2	ORPHA:576283
HP:0040070	Abnormal upper limb bone morphology	3020	H3-3A	OMIM:619720
HP:0040070	Abnormal upper limb bone morphology	3021	H3-3B	OMIM:619721
HP:0040070	Abnormal upper limb bone morphology	8239	USP9X	OMIM:300919
HP:0040070	Abnormal upper limb bone morphology	176	ACAN	OMIM:612813
HP:0040070	Abnormal upper limb bone morphology	176	ACAN	ORPHA:171866
HP:0040070	Abnormal upper limb bone morphology	51132	RLIM	OMIM:300978
HP:0040070	Abnormal upper limb bone morphology	64359	NXN	OMIM:618529
HP:0040070	Abnormal upper limb bone morphology	64359	NXN	ORPHA:1507
HP:0040070	Abnormal upper limb bone morphology	92579	G6PC3	OMIM:612541
HP:0040070	Abnormal upper limb bone morphology	29920	PYCR2	ORPHA:481152
HP:0040070	Abnormal upper limb bone morphology	2626	GATA4	ORPHA:251071
HP:0040070	Abnormal upper limb bone morphology	8726	EED	OMIM:617561
HP:0040070	Abnormal upper limb bone morphology	8726	EED	ORPHA:3447
HP:0040070	Abnormal upper limb bone morphology	5718	PSMD12	ORPHA:529962
HP:0040070	Abnormal upper limb bone morphology	2186	BPTF	ORPHA:529962
HP:0040070	Abnormal upper limb bone morphology	4212	MEIS2	OMIM:600987
HP:0040070	Abnormal upper limb bone morphology	1954	MEGF8	OMIM:614976
HP:0040070	Abnormal upper limb bone morphology	1954	MEGF8	ORPHA:65759
HP:0040070	Abnormal upper limb bone morphology	51715	RAB23	ORPHA:65759
HP:0040070	Abnormal upper limb bone morphology	657	BMPR1A	ORPHA:79076
HP:0040070	Abnormal upper limb bone morphology	3981	LIG4	ORPHA:235
HP:0040070	Abnormal upper limb bone morphology	54888	NSUN2	ORPHA:235
HP:0040070	Abnormal upper limb bone morphology	6608	SMO	OMIM:601707
HP:0040070	Abnormal upper limb bone morphology	6608	SMO	ORPHA:1553
HP:0040070	Abnormal upper limb bone morphology	23126	POGZ	OMIM:616364
HP:0040070	Abnormal upper limb bone morphology	51633	OTUD6B	OMIM:617452
HP:0040070	Abnormal upper limb bone morphology	51633	OTUD6B	ORPHA:505237
HP:0040070	Abnormal upper limb bone morphology	79753	SNIP1	OMIM:614501
HP:0040070	Abnormal upper limb bone morphology	9968	MED12	OMIM:309520
HP:0040070	Abnormal upper limb bone morphology	9968	MED12	OMIM:305450
HP:0040070	Abnormal upper limb bone morphology	80036	TRPM3	OMIM:620224
HP:0040070	Abnormal upper limb bone morphology	285362	SUMF1	OMIM:272200
HP:0040070	Abnormal upper limb bone morphology	285362	SUMF1	ORPHA:585
HP:0040070	Abnormal upper limb bone morphology	79759	ZNF668	OMIM:620194
HP:0040070	Abnormal upper limb bone morphology	10236	HNRNPR	OMIM:620073
HP:0040070	Abnormal upper limb bone morphology	284252	KCTD1	OMIM:181270
HP:0040070	Abnormal upper limb bone morphology	1857	DVL3	OMIM:616894
HP:0040070	Abnormal upper limb bone morphology	56098	PCDHGC4	OMIM:619880
HP:0040070	Abnormal upper limb bone morphology	51339	DACT1	ORPHA:857
HP:0040070	Abnormal upper limb bone morphology	3756	KCNH1	ORPHA:420561
HP:0040070	Abnormal upper limb bone morphology	3756	KCNH1	OMIM:611816
HP:0040070	Abnormal upper limb bone morphology	2719	GPC3	ORPHA:373
HP:0040070	Abnormal upper limb bone morphology	2719	GPC3	OMIM:312870
HP:0040070	Abnormal upper limb bone morphology	4123	MAN2C1	OMIM:619775
HP:0040070	Abnormal upper limb bone morphology	4488	MSX2	ORPHA:60015
HP:0040070	Abnormal upper limb bone morphology	60529	ALX4	ORPHA:60015
HP:0040070	Abnormal upper limb bone morphology	79989	IFT56	OMIM:619534
HP:0040070	Abnormal upper limb bone morphology	23512	SUZ12	ORPHA:3447
HP:0040070	Abnormal upper limb bone morphology	5587	PRKD1	OMIM:617364
HP:0040070	Abnormal upper limb bone morphology	2702	GJA5	OMIM:612474
HP:0040070	Abnormal upper limb bone morphology	2703	GJA8	OMIM:612474
HP:0040070	Abnormal upper limb bone morphology	55690	PACS1	ORPHA:329224
HP:0040070	Abnormal upper limb bone morphology	22907	DHX30	OMIM:617804
HP:0040070	Abnormal upper limb bone morphology	865	CBFB	OMIM:620099
HP:0040070	Abnormal upper limb bone morphology	6154	RPL26	OMIM:614900
HP:0040070	Abnormal upper limb bone morphology	7204	TRIO	ORPHA:476126
HP:0040070	Abnormal upper limb bone morphology	10216	PRG4	OMIM:208250
HP:0040070	Abnormal upper limb bone morphology	10804	GJB6	ORPHA:189
HP:0040070	Abnormal upper limb bone morphology	654	BMP6	ORPHA:465508
HP:0040070	Abnormal upper limb bone morphology	3077	HFE	ORPHA:465508
HP:0040070	Abnormal upper limb bone morphology	6775	STAT4	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	3560	IL2RB	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	79722	ANKRD55	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	26191	PTPN22	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	919	CD247	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	3559	IL2RA	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	5771	PTPN2	ORPHA:85408
HP:0040070	Abnormal upper limb bone morphology	5447	POR	ORPHA:95699
HP:0040070	Abnormal upper limb bone morphology	5604	MAP2K1	ORPHA:1340
HP:0040070	Abnormal upper limb bone morphology	5605	MAP2K2	ORPHA:1340
HP:0040070	Abnormal upper limb bone morphology	673	BRAF	ORPHA:1340
HP:0040070	Abnormal upper limb bone morphology	175	AGA	ORPHA:93
HP:0040072	Abnormal forearm bone morphology	5573	PRKAR1A	ORPHA:950
HP:0040072	Abnormal forearm bone morphology	5144	PDE4D	ORPHA:950
HP:0040072	Abnormal forearm bone morphology	10082	GPC6	ORPHA:93329
HP:0040072	Abnormal forearm bone morphology	8200	GDF5	ORPHA:2639
HP:0040072	Abnormal forearm bone morphology	658	BMPR1B	ORPHA:2639
HP:0040072	Abnormal forearm bone morphology	57167	SALL4	ORPHA:959
HP:0040072	Abnormal forearm bone morphology	2317	FLNB	ORPHA:1263
HP:0040072	Abnormal forearm bone morphology	7040	TGFB1	ORPHA:1328
HP:0040072	Abnormal forearm bone morphology	6926	TBX3	ORPHA:3138
HP:0040072	Abnormal forearm bone morphology	23476	BRD4	ORPHA:199
HP:0040072	Abnormal forearm bone morphology	9126	SMC3	ORPHA:199
HP:0040072	Abnormal forearm bone morphology	8243	SMC1A	ORPHA:199
HP:0040072	Abnormal forearm bone morphology	55869	HDAC8	ORPHA:199
HP:0040072	Abnormal forearm bone morphology	5885	RAD21	ORPHA:199
HP:0040072	Abnormal forearm bone morphology	5885	RAD21	OMIM:614701
HP:0040072	Abnormal forearm bone morphology	4091	SMAD6	OMIM:179300
HP:0040072	Abnormal forearm bone morphology	5648	MASP1	OMIM:257920
HP:0040072	Abnormal forearm bone morphology	5648	MASP1	ORPHA:293843
HP:0040072	Abnormal forearm bone morphology	6804	STX1A	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	7461	CLIP2	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	84277	DNAJC30	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	8468	FKBP6	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	5982	RFC2	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	2969	GTF2I	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	3984	LIMK1	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	155382	VPS37D	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	155368	METTL27	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	114049	BUD23	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	7458	EIF4H	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	9275	BCL7B	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	26608	TBL2	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	653361	NCF1	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	135886	TMEM270	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	51085	MLXIPL	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	51085	MLXIPL	OMIM:194050
HP:0040072	Abnormal forearm bone morphology	9031	BAZ1B	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	2006	ELN	ORPHA:904
HP:0040072	Abnormal forearm bone morphology	2006	ELN	OMIM:194050
HP:0040072	Abnormal forearm bone morphology	2122	MECOM	ORPHA:71289
HP:0040072	Abnormal forearm bone morphology	2122	MECOM	OMIM:616738
HP:0040072	Abnormal forearm bone morphology	78989	COLEC11	OMIM:265050
HP:0040072	Abnormal forearm bone morphology	78989	COLEC11	ORPHA:293843
HP:0040072	Abnormal forearm bone morphology	54880	BCOR	OMIM:300166
HP:0040072	Abnormal forearm bone morphology	54880	BCOR	ORPHA:2712
HP:0040072	Abnormal forearm bone morphology	4094	MAF	ORPHA:1272
HP:0040072	Abnormal forearm bone morphology	4094	MAF	OMIM:601088
HP:0040072	Abnormal forearm bone morphology	29998	BICRA	OMIM:619325
HP:0040072	Abnormal forearm bone morphology	23522	KAT6B	ORPHA:85201
HP:0040072	Abnormal forearm bone morphology	23522	KAT6B	OMIM:606170
HP:0040072	Abnormal forearm bone morphology	1723	DHODH	OMIM:263750
HP:0040072	Abnormal forearm bone morphology	4038	LRP4	ORPHA:3258
HP:0040072	Abnormal forearm bone morphology	4038	LRP4	OMIM:212780
HP:0040072	Abnormal forearm bone morphology	324	APC	ORPHA:3258
HP:0040072	Abnormal forearm bone morphology	63895	PIEZO2	OMIM:248700
HP:0040072	Abnormal forearm bone morphology	63895	PIEZO2	ORPHA:2461
HP:0040072	Abnormal forearm bone morphology	10584	COLEC10	OMIM:248340
HP:0040072	Abnormal forearm bone morphology	10584	COLEC10	ORPHA:293843
HP:0040072	Abnormal forearm bone morphology	50945	TBX22	OMIM:302905
HP:0040072	Abnormal forearm bone morphology	50945	TBX22	ORPHA:921
HP:0040072	Abnormal forearm bone morphology	22800	RRAS2	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	867	CBL	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	8216	LZTR1	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	6016	RIT1	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	6237	RRAS	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	5894	RAF1	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	22808	MRAS	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	3845	KRAS	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	200734	SPRED2	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	4893	NRAS	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	6654	SOS1	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	6655	SOS2	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	5781	PTPN11	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	5922	RASA2	ORPHA:648
HP:0040072	Abnormal forearm bone morphology	22856	CHSY1	OMIM:605282
HP:0040072	Abnormal forearm bone morphology	64131	XYLT1	ORPHA:1425
HP:0040072	Abnormal forearm bone morphology	124583	CANT1	ORPHA:1425
HP:0040072	Abnormal forearm bone morphology	55790	CSGALNACT1	ORPHA:1425
HP:0040072	Abnormal forearm bone morphology	7291	TWIST1	OMIM:101400
HP:0040072	Abnormal forearm bone morphology	53834	FGFRL1	OMIM:194190
HP:0040072	Abnormal forearm bone morphology	1487	CTBP1	OMIM:194190
HP:0040072	Abnormal forearm bone morphology	3954	LETM1	OMIM:194190
HP:0040072	Abnormal forearm bone morphology	7468	NSD2	OMIM:194190
HP:0040072	Abnormal forearm bone morphology	10815	CPLX1	OMIM:194190
HP:0040072	Abnormal forearm bone morphology	26040	SETBP1	ORPHA:798
HP:0040072	Abnormal forearm bone morphology	28981	IFT81	OMIM:617895
HP:0040072	Abnormal forearm bone morphology	92002	CCNQ	ORPHA:140952
HP:0040072	Abnormal forearm bone morphology	2255	FGF10	ORPHA:2363
HP:0040072	Abnormal forearm bone morphology	9321	TRIP11	OMIM:200600
HP:0040072	Abnormal forearm bone morphology	6223	RPS19	OMIM:105650
HP:0040072	Abnormal forearm bone morphology	79087	ALG12	OMIM:607143
HP:0040072	Abnormal forearm bone morphology	9775	EIF4A3	OMIM:268305
HP:0040072	Abnormal forearm bone morphology	4882	NPR2	OMIM:602875
HP:0040072	Abnormal forearm bone morphology	8074	FGF23	OMIM:617993
HP:0040072	Abnormal forearm bone morphology	59341	TRPV4	ORPHA:93314
HP:0040072	Abnormal forearm bone morphology	91147	TMEM67	OMIM:602152
HP:0040072	Abnormal forearm bone morphology	3549	IHH	OMIM:607778
HP:0040072	Abnormal forearm bone morphology	567	B2M	OMIM:241600
HP:0040072	Abnormal forearm bone morphology	3930	LBR	OMIM:618019
HP:0040072	Abnormal forearm bone morphology	64175	P3H1	OMIM:610915
HP:0040072	Abnormal forearm bone morphology	79659	DYNC2H1	OMIM:613091
HP:0040072	Abnormal forearm bone morphology	51604	PIGT	OMIM:615398
HP:0040072	Abnormal forearm bone morphology	9820	CUL7	ORPHA:2616
HP:0040072	Abnormal forearm bone morphology	23363	OBSL1	ORPHA:2616
HP:0040072	Abnormal forearm bone morphology	83987	CCDC8	ORPHA:2616
HP:0040072	Abnormal forearm bone morphology	182	JAG1	OMIM:118450
HP:0040072	Abnormal forearm bone morphology	1301	COL11A1	OMIM:154780
HP:0040072	Abnormal forearm bone morphology	57020	VPS35L	OMIM:619135
HP:0040072	Abnormal forearm bone morphology	5447	POR	OMIM:201750
HP:0040072	Abnormal forearm bone morphology	5447	POR	OMIM:207410
HP:0040072	Abnormal forearm bone morphology	112752	IFT43	OMIM:617866
HP:0040072	Abnormal forearm bone morphology	2261	FGFR3	OMIM:100800
HP:0040072	Abnormal forearm bone morphology	5593	PRKG2	OMIM:619636
HP:0040072	Abnormal forearm bone morphology	5116	PCNT	OMIM:210720
HP:0040072	Abnormal forearm bone morphology	3207	HOXA11	OMIM:605432
HP:0040072	Abnormal forearm bone morphology	3911	LAMA5	OMIM:620076
HP:0040072	Abnormal forearm bone morphology	9791	PTDSS1	OMIM:151050
HP:0040072	Abnormal forearm bone morphology	56603	CYP26B1	OMIM:614416
HP:0040072	Abnormal forearm bone morphology	2254	FGF9	OMIM:612961
HP:0040072	Abnormal forearm bone morphology	2131	EXT1	OMIM:133700
HP:0040072	Abnormal forearm bone morphology	2132	EXT2	OMIM:133701
HP:0040072	Abnormal forearm bone morphology	11285	B4GALT7	OMIM:130070
HP:0040072	Abnormal forearm bone morphology	1182	CLCN3	OMIM:619512
HP:0040072	Abnormal forearm bone morphology	85301	COL27A1	OMIM:615155
HP:0040072	Abnormal forearm bone morphology	1387	CREBBP	OMIM:180849
HP:0040072	Abnormal forearm bone morphology	2033	EP300	OMIM:180849
HP:0040072	Abnormal forearm bone morphology	23233	EXOC6B	ORPHA:93359
HP:0040072	Abnormal forearm bone morphology	23233	EXOC6B	OMIM:618395
HP:0040072	Abnormal forearm bone morphology	126792	B3GALT6	ORPHA:93359
HP:0040072	Abnormal forearm bone morphology	126792	B3GALT6	OMIM:271640
HP:0040072	Abnormal forearm bone morphology	4010	LMX1B	ORPHA:2614
HP:0040072	Abnormal forearm bone morphology	6885	MAP3K7	OMIM:617137
HP:0040072	Abnormal forearm bone morphology	6885	MAP3K7	ORPHA:1826
HP:0040072	Abnormal forearm bone morphology	145258	GSC	OMIM:602471
HP:0040072	Abnormal forearm bone morphology	10847	SRCAP	OMIM:136140
HP:0040072	Abnormal forearm bone morphology	10847	SRCAP	ORPHA:2044
HP:0040072	Abnormal forearm bone morphology	91179	SCARF2	OMIM:600920
HP:0040072	Abnormal forearm bone morphology	8318	CDC45	OMIM:617063
HP:0040072	Abnormal forearm bone morphology	2137	EXTL3	OMIM:617425
HP:0040072	Abnormal forearm bone morphology	6662	SOX9	OMIM:114290
HP:0040072	Abnormal forearm bone morphology	10225	CD96	OMIM:211750
HP:0040072	Abnormal forearm bone morphology	10225	CD96	ORPHA:1308
HP:0040072	Abnormal forearm bone morphology	2067	ERCC1	OMIM:610758
HP:0040072	Abnormal forearm bone morphology	2535	FZD2	OMIM:164745
HP:0040072	Abnormal forearm bone morphology	1146	CHRNG	OMIM:265000
HP:0040072	Abnormal forearm bone morphology	6497	SKI	OMIM:182212
HP:0040072	Abnormal forearm bone morphology	2316	FLNA	OMIM:305620
HP:0040072	Abnormal forearm bone morphology	2316	FLNA	ORPHA:1826
HP:0040072	Abnormal forearm bone morphology	2316	FLNA	OMIM:311300
HP:0040072	Abnormal forearm bone morphology	3835	KIF22	OMIM:603546
HP:0040072	Abnormal forearm bone morphology	57492	ARID1B	OMIM:135900
HP:0040072	Abnormal forearm bone morphology	3899	AFF3	OMIM:619297
HP:0040072	Abnormal forearm bone morphology	9469	CHST3	OMIM:143095
HP:0040072	Abnormal forearm bone morphology	9469	CHST3	OMIM:245600
HP:0040072	Abnormal forearm bone morphology	4853	NOTCH2	OMIM:102500
HP:0040072	Abnormal forearm bone morphology	25836	NIPBL	OMIM:122470
HP:0040072	Abnormal forearm bone morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0040072	Abnormal forearm bone morphology	7474	WNT5A	OMIM:180700
HP:0040072	Abnormal forearm bone morphology	1855	DVL1	OMIM:180700
HP:0040072	Abnormal forearm bone morphology	9241	NOG	OMIM:186500
HP:0040072	Abnormal forearm bone morphology	1277	COL1A1	ORPHA:287
HP:0040072	Abnormal forearm bone morphology	1289	COL5A1	ORPHA:287
HP:0040072	Abnormal forearm bone morphology	1290	COL5A2	ORPHA:287
HP:0040072	Abnormal forearm bone morphology	26229	B3GAT3	OMIM:245600
HP:0040072	Abnormal forearm bone morphology	3897	L1CAM	OMIM:304100
HP:0040072	Abnormal forearm bone morphology	171023	ASXL1	OMIM:605039
HP:0040072	Abnormal forearm bone morphology	6913	TBX15	OMIM:260660
HP:0040072	Abnormal forearm bone morphology	91252	SLC39A13	OMIM:612350
HP:0040072	Abnormal forearm bone morphology	545	ATR	OMIM:210600
HP:0040072	Abnormal forearm bone morphology	649	BMP1	OMIM:614856
HP:0040072	Abnormal forearm bone morphology	29980	DONSON	OMIM:617604
HP:0040072	Abnormal forearm bone morphology	22858	CILK1	OMIM:612651
HP:0040072	Abnormal forearm bone morphology	9935	MAFB	ORPHA:233
HP:0040072	Abnormal forearm bone morphology	1123	CHN1	ORPHA:233
HP:0040072	Abnormal forearm bone morphology	2263	FGFR2	OMIM:149730
HP:0040072	Abnormal forearm bone morphology	7547	ZIC3	OMIM:314390
HP:0040072	Abnormal forearm bone morphology	54101	RIPK4	OMIM:263650
HP:0040072	Abnormal forearm bone morphology	55636	CHD7	OMIM:214800
HP:0040072	Abnormal forearm bone morphology	202018	TAPT1	OMIM:616897
HP:0040072	Abnormal forearm bone morphology	7476	WNT7A	ORPHA:2879
HP:0040072	Abnormal forearm bone morphology	7476	WNT7A	OMIM:276820
HP:0040072	Abnormal forearm bone morphology	633	BGN	OMIM:300106
HP:0040072	Abnormal forearm bone morphology	8792	TNFRSF11A	OMIM:602080
HP:0040072	Abnormal forearm bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0040072	Abnormal forearm bone morphology	6473	SHOX	OMIM:249700
HP:0040072	Abnormal forearm bone morphology	9401	RECQL4	ORPHA:221016
HP:0040072	Abnormal forearm bone morphology	157570	ESCO2	OMIM:216100
HP:0040072	Abnormal forearm bone morphology	64682	ANAPC1	ORPHA:221008
HP:0040072	Abnormal forearm bone morphology	1297	COL9A1	ORPHA:166002
HP:0040072	Abnormal forearm bone morphology	1298	COL9A2	ORPHA:166002
HP:0040072	Abnormal forearm bone morphology	1299	COL9A3	ORPHA:166002
HP:0040072	Abnormal forearm bone morphology	1836	SLC26A2	ORPHA:93307
HP:0040072	Abnormal forearm bone morphology	6638	SNRPN	ORPHA:177910
HP:0040072	Abnormal forearm bone morphology	4692	NDN	ORPHA:177910
HP:0040072	Abnormal forearm bone morphology	54551	MAGEL2	ORPHA:177910
HP:0040072	Abnormal forearm bone morphology	1280	COL2A1	ORPHA:85198
HP:0040072	Abnormal forearm bone morphology	1311	COMP	OMIM:177170
HP:0040072	Abnormal forearm bone morphology	1300	COL10A1	ORPHA:174
HP:0040072	Abnormal forearm bone morphology	54809	SAMD9	OMIM:617053
HP:0040072	Abnormal forearm bone morphology	2737	GLI3	ORPHA:93322
HP:0040072	Abnormal forearm bone morphology	387733	IFITM5	OMIM:610967
HP:0040072	Abnormal forearm bone morphology	4920	ROR2	OMIM:268310
HP:0040072	Abnormal forearm bone morphology	9939	RBM8A	OMIM:274000
HP:0040072	Abnormal forearm bone morphology	64135	IFIH1	OMIM:182250
HP:0040072	Abnormal forearm bone morphology	27125	AFF4	ORPHA:444077
HP:0040072	Abnormal forearm bone morphology	8241	RBM10	ORPHA:2886
HP:0040072	Abnormal forearm bone morphology	727857	BHLHA9	ORPHA:3329
HP:0040072	Abnormal forearm bone morphology	727857	BHLHA9	ORPHA:1986
HP:0040072	Abnormal forearm bone morphology	5980	REV3L	ORPHA:570
HP:0040072	Abnormal forearm bone morphology	23129	PLXND1	ORPHA:570
HP:0040072	Abnormal forearm bone morphology	4318	MMP9	ORPHA:1040
HP:0040072	Abnormal forearm bone morphology	4322	MMP13	ORPHA:1040
HP:0040072	Abnormal forearm bone morphology	6910	TBX5	ORPHA:392
HP:0040072	Abnormal forearm bone morphology	7140	TNNT3	ORPHA:1147
HP:0040072	Abnormal forearm bone morphology	4621	MYH3	ORPHA:1147
HP:0040072	Abnormal forearm bone morphology	7169	TPM2	ORPHA:1147
HP:0040072	Abnormal forearm bone morphology	259232	NALCN	ORPHA:1147
HP:0040072	Abnormal forearm bone morphology	7136	TNNI2	ORPHA:1147
HP:0040072	Abnormal forearm bone morphology	672	BRCA1	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	10459	MAD2L2	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	7516	XRCC2	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	29089	UBE2T	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	675	BRCA2	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	55120	FANCL	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2177	FANCD2	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2175	FANCA	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2187	FANCB	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2176	FANCC	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2178	FANCE	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2188	FANCF	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2189	FANCG	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	5888	RAD51	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	5889	RAD51C	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	55159	RFWD3	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	83990	BRIP1	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	57697	FANCM	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	79728	PALB2	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	84464	SLX4	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	2072	ERCC4	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	55215	FANCI	ORPHA:84
HP:0040072	Abnormal forearm bone morphology	10262	SF3B4	ORPHA:1788
HP:0040072	Abnormal forearm bone morphology	10262	SF3B4	ORPHA:245
HP:0040072	Abnormal forearm bone morphology	3239	HOXD13	ORPHA:887
HP:0040072	Abnormal forearm bone morphology	60681	FKBP10	ORPHA:1149
HP:0040072	Abnormal forearm bone morphology	2260	FGFR1	ORPHA:2117
HP:0040072	Abnormal forearm bone morphology	9555	MACROH2A1	ORPHA:1275
HP:0040072	Abnormal forearm bone morphology	5307	PITX1	ORPHA:1275
HP:0040072	Abnormal forearm bone morphology	1717	DHCR7	ORPHA:818
HP:0040072	Abnormal forearm bone morphology	64327	LMBR1	ORPHA:93321
HP:0040072	Abnormal forearm bone morphology	6469	SHH	ORPHA:93321
HP:0040072	Abnormal forearm bone morphology	6154	RPL26	OMIM:614900
HP:0040072	Abnormal forearm bone morphology	7204	TRIO	ORPHA:476126
HP:0040072	Abnormal forearm bone morphology	5604	MAP2K1	ORPHA:1340
HP:0040072	Abnormal forearm bone morphology	5605	MAP2K2	ORPHA:1340
HP:0040072	Abnormal forearm bone morphology	673	BRAF	ORPHA:1340
HP:0040072	Abnormal forearm bone morphology	175	AGA	ORPHA:93
HP:0040075	Hypopituitarism	7528	YY1	ORPHA:506358
HP:0040075	Hypopituitarism	4791	NFKB2	ORPHA:293978
HP:0040075	Hypopituitarism	4791	NFKB2	OMIM:615577
HP:0040075	Hypopituitarism	6909	TBX2	OMIM:618223
HP:0040075	Hypopituitarism	1859	DYRK1A	ORPHA:268261
HP:0040075	Hypopituitarism	23394	ADNP	OMIM:615873
HP:0040075	Hypopituitarism	10785	WDR4	OMIM:618347
HP:0040075	Hypopituitarism	22800	RRAS2	OMIM:618624
HP:0040075	Hypopituitarism	8675	STX16	ORPHA:94089
HP:0040075	Hypopituitarism	8626	TP63	OMIM:604292
HP:0040075	Hypopituitarism	8626	TP63	ORPHA:1896
HP:0040075	Hypopituitarism	7681	MKRN3	OMIM:176270
HP:0040075	Hypopituitarism	3653	IPW	OMIM:176270
HP:0040075	Hypopituitarism	54551	MAGEL2	OMIM:176270
HP:0040075	Hypopituitarism	54551	MAGEL2	ORPHA:177904
HP:0040075	Hypopituitarism	54551	MAGEL2	ORPHA:177901
HP:0040075	Hypopituitarism	54551	MAGEL2	ORPHA:98754
HP:0040075	Hypopituitarism	791114	PWRN1	OMIM:176270
HP:0040075	Hypopituitarism	100033413	SNORD116-1	OMIM:176270
HP:0040075	Hypopituitarism	8924	HERC2	OMIM:176270
HP:0040075	Hypopituitarism	145624	PWAR1	OMIM:176270
HP:0040075	Hypopituitarism	23742	NPAP1	OMIM:176270
HP:0040075	Hypopituitarism	338433	SNORD115-1	OMIM:176270
HP:0040075	Hypopituitarism	27125	AFF4	ORPHA:444077
HP:0040075	Hypopituitarism	55315	SLC29A3	OMIM:602782
HP:0040075	Hypopituitarism	7707	ZNF148	OMIM:617260
HP:0040075	Hypopituitarism	55159	RFWD3	OMIM:617784
HP:0040075	Hypopituitarism	113179	ADAT3	ORPHA:363528
HP:0040075	Hypopituitarism	113179	ADAT3	OMIM:615286
HP:0040075	Hypopituitarism	55215	FANCI	OMIM:609053
HP:0040075	Hypopituitarism	10908	PNPLA6	OMIM:275400
HP:0040075	Hypopituitarism	2693	GHSR	OMIM:615925
HP:0040075	Hypopituitarism	2188	FANCF	OMIM:603467
HP:0040075	Hypopituitarism	6638	SNRPN	ORPHA:177904
HP:0040075	Hypopituitarism	6638	SNRPN	ORPHA:177901
HP:0040075	Hypopituitarism	6638	SNRPN	ORPHA:177907
HP:0040075	Hypopituitarism	6638	SNRPN	ORPHA:98754
HP:0040075	Hypopituitarism	4692	NDN	ORPHA:177904
HP:0040075	Hypopituitarism	4692	NDN	ORPHA:177901
HP:0040075	Hypopituitarism	4692	NDN	ORPHA:98754
HP:0040075	Hypopituitarism	4948	OCA2	ORPHA:177904
HP:0040075	Hypopituitarism	4948	OCA2	ORPHA:177901
HP:0040075	Hypopituitarism	4948	OCA2	ORPHA:98754
HP:0040075	Hypopituitarism	6777	STAT5B	OMIM:245590
HP:0040075	Hypopituitarism	284058	KANSL1	ORPHA:363958
HP:0040075	Hypopituitarism	284058	KANSL1	ORPHA:363965
HP:0040075	Hypopituitarism	2688	GH1	OMIM:612781
HP:0040075	Hypopituitarism	2688	GH1	OMIM:173100
HP:0040075	Hypopituitarism	9581	PREPL	OMIM:616224
HP:0040075	Hypopituitarism	55699	IARS2	ORPHA:436174
HP:0040075	Hypopituitarism	55699	IARS2	OMIM:616007
HP:0040075	Hypopituitarism	79184	BRCC3	ORPHA:280679
HP:0040075	Hypopituitarism	5308	PITX2	OMIM:180500
HP:0040075	Hypopituitarism	7840	ALMS1	OMIM:203800
HP:0040075	Hypopituitarism	7840	ALMS1	ORPHA:64
HP:0040075	Hypopituitarism	3481	IGF2	OMIM:180860
HP:0040075	Hypopituitarism	157680	VPS13B	OMIM:216550
HP:0040075	Hypopituitarism	25942	SIN3A	ORPHA:94065
HP:0040075	Hypopituitarism	25942	SIN3A	OMIM:613406
HP:0040075	Hypopituitarism	5718	PSMD12	ORPHA:529962
HP:0040075	Hypopituitarism	2186	BPTF	ORPHA:529962
HP:0040075	Hypopituitarism	4297	KMT2A	ORPHA:319182
HP:0040075	Hypopituitarism	93627	TBCK	ORPHA:488632
HP:0040075	Hypopituitarism	2783	GNB2	OMIM:619503
HP:0040075	Hypopituitarism	1028	CDKN1C	OMIM:614732
HP:0040075	Hypopituitarism	57187	THOC2	ORPHA:457240
HP:0040075	Hypopituitarism	54	ACP5	ORPHA:1855
HP:0040075	Hypopituitarism	9056	SLC7A7	ORPHA:470
HP:0040075	Hypopituitarism	84265	POLR3GL	OMIM:619234
HP:0040075	Hypopituitarism	9851	KIAA0753	OMIM:619476
HP:0040075	Hypopituitarism	6905	TBCE	OMIM:241410
HP:0040075	Hypopituitarism	80067	DCAF17	ORPHA:3464
HP:0040075	Hypopituitarism	54499	TMCO1	OMIM:213980
HP:0040075	Hypopituitarism	2887	GRB10	ORPHA:96182
HP:0040075	Hypopituitarism	5605	MAP2K2	OMIM:615280
HP:0040075	Hypopituitarism	2692	GHRHR	OMIM:618157
HP:0040075	Hypopituitarism	9702	CEP57	OMIM:614114
HP:0040075	Hypopituitarism	11128	POLR3A	ORPHA:3455
HP:0040075	Hypopituitarism	55599	RNPC3	OMIM:618160
HP:0040075	Hypopituitarism	9897	WASHC5	OMIM:220210
HP:0040075	Hypopituitarism	2317	FLNB	ORPHA:1263
HP:0040075	Hypopituitarism	695	BTK	OMIM:307200
HP:0040075	Hypopituitarism	9526	MPDU1	ORPHA:79323
HP:0040075	Hypopituitarism	5144	PDE4D	ORPHA:280651
HP:0040075	Hypopituitarism	1513	CTSK	ORPHA:763
HP:0040075	Hypopituitarism	79644	SRD5A3	ORPHA:324737
HP:0040075	Hypopituitarism	1968	EIF2S3	OMIM:300148
HP:0040075	Hypopituitarism	5426	POLE	OMIM:618336
HP:0040075	Hypopituitarism	51053	GMNN	OMIM:616835
HP:0040075	Hypopituitarism	6664	SOX11	OMIM:615866
HP:0040075	Hypopituitarism	157570	ESCO2	OMIM:216100
HP:0040075	Hypopituitarism	145173	B3GLCT	ORPHA:709
HP:0040075	Hypopituitarism	29926	GMPPA	ORPHA:869
HP:0040075	Hypopituitarism	60684	TRAPPC11	ORPHA:869
HP:0040075	Hypopituitarism	8086	AAAS	ORPHA:869
HP:0040075	Hypopituitarism	652	BMP4	OMIM:607932
HP:0040075	Hypopituitarism	60401	EDA2R	ORPHA:181
HP:0040075	Hypopituitarism	1896	EDA	ORPHA:181
HP:0040075	Hypopituitarism	4509	MT-ATP8	ORPHA:480
HP:0040075	Hypopituitarism	4567	MT-TL1	ORPHA:480
HP:0040075	Hypopituitarism	50484	RRM2B	ORPHA:480
HP:0040075	Hypopituitarism	9723	SEMA3E	ORPHA:138
HP:0040075	Hypopituitarism	10371	SEMA3A	ORPHA:478
HP:0040075	Hypopituitarism	81848	SPRY4	ORPHA:478
HP:0040075	Hypopituitarism	23767	FLRT3	ORPHA:478
HP:0040075	Hypopituitarism	128674	PROKR2	ORPHA:478
HP:0040075	Hypopituitarism	79625	NDNF	ORPHA:478
HP:0040075	Hypopituitarism	389549	FEZF1	ORPHA:478
HP:0040075	Hypopituitarism	1630	DCC	ORPHA:478
HP:0040075	Hypopituitarism	3730	ANOS1	ORPHA:478
HP:0040075	Hypopituitarism	54756	IL17RD	ORPHA:478
HP:0040075	Hypopituitarism	6663	SOX10	ORPHA:478
HP:0040075	Hypopituitarism	285025	CCDC141	ORPHA:478
HP:0040075	Hypopituitarism	60675	PROK2	ORPHA:478
HP:0040075	Hypopituitarism	1848	DUSP6	ORPHA:478
HP:0040075	Hypopituitarism	6870	TACR3	ORPHA:478
HP:0040075	Hypopituitarism	55717	WDR11	ORPHA:478
HP:0040075	Hypopituitarism	9394	HS6ST1	ORPHA:478
HP:0040075	Hypopituitarism	8822	FGF17	ORPHA:478
HP:0040075	Hypopituitarism	2737	GLI3	ORPHA:672
HP:0040075	Hypopituitarism	2737	GLI3	OMIM:146510
HP:0040075	Hypopituitarism	2260	FGFR1	ORPHA:280200
HP:0040075	Hypopituitarism	2260	FGFR1	ORPHA:220386
HP:0040075	Hypopituitarism	2260	FGFR1	ORPHA:93924
HP:0040075	Hypopituitarism	28514	DLL1	ORPHA:280200
HP:0040075	Hypopituitarism	28514	DLL1	ORPHA:220386
HP:0040075	Hypopituitarism	28514	DLL1	ORPHA:93926
HP:0040075	Hypopituitarism	28514	DLL1	ORPHA:93924
HP:0040075	Hypopituitarism	28514	DLL1	ORPHA:93925
HP:0040075	Hypopituitarism	2253	FGF8	ORPHA:280200
HP:0040075	Hypopituitarism	2253	FGF8	ORPHA:220386
HP:0040075	Hypopituitarism	2253	FGF8	ORPHA:93926
HP:0040075	Hypopituitarism	2253	FGF8	ORPHA:93924
HP:0040075	Hypopituitarism	2253	FGF8	ORPHA:93925
HP:0040075	Hypopituitarism	6496	SIX3	ORPHA:280200
HP:0040075	Hypopituitarism	6496	SIX3	ORPHA:220386
HP:0040075	Hypopituitarism	6496	SIX3	ORPHA:93926
HP:0040075	Hypopituitarism	6496	SIX3	ORPHA:93924
HP:0040075	Hypopituitarism	6496	SIX3	ORPHA:93925
HP:0040075	Hypopituitarism	7050	TGIF1	ORPHA:280200
HP:0040075	Hypopituitarism	7050	TGIF1	ORPHA:220386
HP:0040075	Hypopituitarism	7050	TGIF1	ORPHA:93926
HP:0040075	Hypopituitarism	7050	TGIF1	ORPHA:93924
HP:0040075	Hypopituitarism	7050	TGIF1	ORPHA:93925
HP:0040075	Hypopituitarism	4838	NODAL	ORPHA:280200
HP:0040075	Hypopituitarism	4838	NODAL	ORPHA:220386
HP:0040075	Hypopituitarism	4838	NODAL	ORPHA:93926
HP:0040075	Hypopituitarism	4838	NODAL	ORPHA:93924
HP:0040075	Hypopituitarism	4838	NODAL	ORPHA:93925
HP:0040075	Hypopituitarism	6469	SHH	ORPHA:280200
HP:0040075	Hypopituitarism	6469	SHH	ORPHA:220386
HP:0040075	Hypopituitarism	6469	SHH	ORPHA:93926
HP:0040075	Hypopituitarism	6469	SHH	ORPHA:93924
HP:0040075	Hypopituitarism	6469	SHH	ORPHA:93925
HP:0040075	Hypopituitarism	51684	SUFU	ORPHA:280200
HP:0040075	Hypopituitarism	7546	ZIC2	ORPHA:280200
HP:0040075	Hypopituitarism	7546	ZIC2	ORPHA:220386
HP:0040075	Hypopituitarism	7546	ZIC2	ORPHA:93926
HP:0040075	Hypopituitarism	7546	ZIC2	ORPHA:93924
HP:0040075	Hypopituitarism	7546	ZIC2	ORPHA:93925
HP:0040075	Hypopituitarism	2619	GAS1	ORPHA:280200
HP:0040075	Hypopituitarism	2619	GAS1	ORPHA:220386
HP:0040075	Hypopituitarism	2619	GAS1	ORPHA:93926
HP:0040075	Hypopituitarism	2619	GAS1	ORPHA:93924
HP:0040075	Hypopituitarism	2619	GAS1	ORPHA:93925
HP:0040075	Hypopituitarism	84976	DISP1	ORPHA:280200
HP:0040075	Hypopituitarism	84976	DISP1	ORPHA:220386
HP:0040075	Hypopituitarism	84976	DISP1	ORPHA:93926
HP:0040075	Hypopituitarism	84976	DISP1	ORPHA:93924
HP:0040075	Hypopituitarism	84976	DISP1	ORPHA:93925
HP:0040075	Hypopituitarism	2736	GLI2	ORPHA:280200
HP:0040075	Hypopituitarism	2736	GLI2	ORPHA:220386
HP:0040075	Hypopituitarism	2736	GLI2	OMIM:610829
HP:0040075	Hypopituitarism	2736	GLI2	ORPHA:93926
HP:0040075	Hypopituitarism	2736	GLI2	ORPHA:93924
HP:0040075	Hypopituitarism	2736	GLI2	ORPHA:93925
HP:0040075	Hypopituitarism	8928	FOXH1	ORPHA:280200
HP:0040075	Hypopituitarism	8928	FOXH1	ORPHA:220386
HP:0040075	Hypopituitarism	8928	FOXH1	ORPHA:93926
HP:0040075	Hypopituitarism	8928	FOXH1	ORPHA:93924
HP:0040075	Hypopituitarism	8928	FOXH1	ORPHA:93925
HP:0040075	Hypopituitarism	5727	PTCH1	ORPHA:280200
HP:0040075	Hypopituitarism	5727	PTCH1	ORPHA:220386
HP:0040075	Hypopituitarism	5727	PTCH1	OMIM:610828
HP:0040075	Hypopituitarism	5727	PTCH1	ORPHA:93926
HP:0040075	Hypopituitarism	5727	PTCH1	ORPHA:93924
HP:0040075	Hypopituitarism	5727	PTCH1	ORPHA:93925
HP:0040075	Hypopituitarism	50937	CDON	ORPHA:280200
HP:0040075	Hypopituitarism	50937	CDON	ORPHA:220386
HP:0040075	Hypopituitarism	50937	CDON	ORPHA:93926
HP:0040075	Hypopituitarism	50937	CDON	ORPHA:93924
HP:0040075	Hypopituitarism	50937	CDON	ORPHA:93925
HP:0040075	Hypopituitarism	23247	KATNIP	OMIM:616784
HP:0040075	Hypopituitarism	7737	RNF113A	OMIM:300953
HP:0040075	Hypopituitarism	5626	PROP1	ORPHA:226307
HP:0040075	Hypopituitarism	5626	PROP1	OMIM:262600
HP:0040075	Hypopituitarism	89884	LHX4	ORPHA:226307
HP:0040075	Hypopituitarism	8022	LHX3	ORPHA:226307
HP:0040075	Hypopituitarism	5449	POU1F1	ORPHA:226307
HP:0040075	Hypopituitarism	8820	HESX1	ORPHA:226307
HP:0040075	Hypopituitarism	6658	SOX3	OMIM:312000
HP:0040075	Hypopituitarism	6658	SOX3	OMIM:300123
HP:0040075	Hypopituitarism	10735	STAG2	ORPHA:220386
HP:0040075	Hypopituitarism	10735	STAG2	ORPHA:93925
HP:0040075	Hypopituitarism	8243	SMC1A	ORPHA:220386
HP:0040075	Hypopituitarism	6491	STIL	ORPHA:220386
HP:0040075	Hypopituitarism	6491	STIL	ORPHA:93926
HP:0040075	Hypopituitarism	6491	STIL	ORPHA:93924
HP:0040075	Hypopituitarism	6491	STIL	ORPHA:93925
HP:0040075	Hypopituitarism	2917	GRM7	OMIM:618922
HP:0040075	Hypopituitarism	8567	MADD	OMIM:619004
HP:0040075	Hypopituitarism	23007	PLCH1	ORPHA:93925
HP:0040075	Hypopituitarism	55131	RBM28	ORPHA:157954
HP:0040075	Hypopituitarism	1621	DBH	OMIM:223360
HP:0040075	Hypopituitarism	3547	IGSF1	OMIM:300888
HP:0040075	Hypopituitarism	2778	GNAS	ORPHA:79443
HP:0040075	Hypopituitarism	2778	GNAS	ORPHA:79444
HP:0040075	Hypopituitarism	7201	TRHR	ORPHA:99832
HP:0040075	Hypopituitarism	2488	FSHB	ORPHA:52901
HP:0040075	Hypopituitarism	5122	PCSK1	ORPHA:71528
HP:0040075	Hypopituitarism	55636	CHD7	OMIM:214800
HP:0040075	Hypopituitarism	7080	NKX2-1	OMIM:610978
HP:0040075	Hypopituitarism	64072	CDH23	ORPHA:91347
HP:0040075	Hypopituitarism	64072	CDH23	ORPHA:2965
HP:0040075	Hypopituitarism	4221	MEN1	ORPHA:2965
HP:0040075	Hypopituitarism	9049	AIP	ORPHA:2965
HP:0040075	Hypopituitarism	8314	BAP1	ORPHA:2495
HP:0040075	Hypopituitarism	4771	NF2	ORPHA:2495
HP:0040075	Hypopituitarism	6598	SMARCB1	ORPHA:2495
HP:0040075	Hypopituitarism	5155	PDGFB	ORPHA:2495
HP:0040075	Hypopituitarism	84231	TRAF7	ORPHA:2495
HP:0040075	Hypopituitarism	6608	SMO	ORPHA:2495
HP:0040075	Hypopituitarism	207	AKT1	ORPHA:2495
HP:0040075	Hypopituitarism	5290	PIK3CA	ORPHA:2495
HP:0040075	Hypopituitarism	7015	TERT	ORPHA:2495
HP:0040075	Hypopituitarism	6605	SMARCE1	ORPHA:2495
HP:0040075	Hypopituitarism	3953	LEPR	OMIM:614963
HP:0040075	Hypopituitarism	3953	LEPR	ORPHA:179494
HP:0040075	Hypopituitarism	91147	TMEM67	OMIM:602152
HP:0040075	Hypopituitarism	3170	FOXA2	ORPHA:95494
HP:0040075	Hypopituitarism	5015	OTX2	ORPHA:95494
HP:0040075	Hypopituitarism	283987	HID1	OMIM:619983
HP:0040075	Hypopituitarism	3952	LEP	ORPHA:66628
HP:0040075	Hypopituitarism	7252	TSHB	ORPHA:90674
HP:0040075	Hypopituitarism	673	BRAF	ORPHA:54595
HP:0040075	Hypopituitarism	5443	POMC	OMIM:609734
HP:0040075	Hypopituitarism	9095	TBX19	OMIM:201400
HP:0040075	Hypopituitarism	9915	ARNT2	OMIM:615926
HP:0040075	Hypopituitarism	5456	POU3F4	ORPHA:1435
HP:0040075	Hypopituitarism	84133	ZNRF3	ORPHA:1501
HP:0040075	Hypopituitarism	7157	TP53	ORPHA:1501
HP:0040075	Hypopituitarism	5573	PRKAR1A	ORPHA:1501
HP:0040075	Hypopituitarism	1499	CTNNB1	ORPHA:1501
HP:0040075	Hypopituitarism	1029	CDKN2A	ORPHA:1501
HP:0040075	Hypopituitarism	3043	HBB	ORPHA:231214
HP:0040075	Hypopituitarism	3043	HBB	ORPHA:231226
HP:0040075	Hypopituitarism	2193	FARSA	OMIM:619013
HP:0040075	Hypopituitarism	116519	APOA5	OMIM:145750
HP:0040075	Hypopituitarism	57688	ZSWIM6	ORPHA:1827
HP:0040075	Hypopituitarism	57688	ZSWIM6	OMIM:603671
HP:0040075	Hypopituitarism	80324	PUS1	OMIM:600462
HP:0040075	Hypopituitarism	257	ALX3	ORPHA:391474
HP:0040075	Hypopituitarism	83550	GPR101	OMIM:300942
HP:0040075	Hypopituitarism	134218	DNAJC21	ORPHA:811
HP:0040075	Hypopituitarism	79631	EFL1	ORPHA:811
HP:0040075	Hypopituitarism	51119	SBDS	ORPHA:811
HP:0040075	Hypopituitarism	6729	SRP54	ORPHA:811
HP:0040075	Hypopituitarism	6875	TAF4B	OMIM:615841
HP:0040075	Hypopituitarism	84225	ZMYND15	OMIM:615842
HP:0040075	Hypopituitarism	93953	GCNA	OMIM:301077
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	OMIM:618883
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	ORPHA:2239
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1	OMIM:264700
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	OMIM:241410
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	ORPHA:93324
HP:0004363	Abnormal circulating calcium concentration	120227	CYP2R1	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	2625	GATA3	ORPHA:2237
HP:0004363	Abnormal circulating calcium concentration	7421	VDR	OMIM:277440
HP:0004363	Abnormal circulating calcium concentration	5741	PTH	OMIM:146200
HP:0004363	Abnormal circulating calcium concentration	8792	TNFRSF11A	OMIM:612301
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:79443
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:79444
HP:0004363	Abnormal circulating calcium concentration	8675	STX16	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A	ORPHA:93325
HP:0004363	Abnormal circulating calcium concentration	1576	CYP3A4	OMIM:619073
HP:0004363	Abnormal circulating calcium concentration	83483	PLVAP	OMIM:618183
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	OMIM:259700
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:53
HP:0004363	Abnormal circulating calcium concentration	9842	PLEKHM1	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	8074	FGF23	ORPHA:89937
HP:0004363	Abnormal circulating calcium concentration	54914	FOCAD	OMIM:619991
HP:0004363	Abnormal circulating calcium concentration	9508	ADAMTS3	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	147372	CCBE1	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	79633	FAT4	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	857	CAV1	OMIM:612526
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	OMIM:615361
HP:0004363	Abnormal circulating calcium concentration	846	CASR	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	846	CASR	OMIM:601198
HP:0004363	Abnormal circulating calcium concentration	3032	HADHB	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	3030	HADHA	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	10056	FARSB	OMIM:613658
HP:0004363	Abnormal circulating calcium concentration	6261	RYR1	ORPHA:466650
HP:0004363	Abnormal circulating calcium concentration	29887	SNX10	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	8600	TNFSF11	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	149775	GNAS-AS1	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	197131	UBR1	OMIM:243800
HP:0004363	Abnormal circulating calcium concentration	1436	CSF1R	OMIM:618476
HP:0004363	Abnormal circulating calcium concentration	84876	ORAI1	OMIM:615883
HP:0004363	Abnormal circulating calcium concentration	9993	DGCR2	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	8220	ESS2	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	8214	DGCR6	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	54487	DGCR8	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	OMIM:188400
HP:0004363	Abnormal circulating calcium concentration	23175	LPIN1	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	4512	MT-CO1	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	4514	MT-CO3	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	58528	RRAGD	OMIM:620152
HP:0004363	Abnormal circulating calcium concentration	5495	PPM1B	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	6519	SLC3A1	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	9581	PREPL	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	79823	CAMKMT	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	140803	TRPM6	OMIM:602014
HP:0004363	Abnormal circulating calcium concentration	695	BTK	ORPHA:47
HP:0004363	Abnormal circulating calcium concentration	775	CACNA1C	OMIM:601005
HP:0004363	Abnormal circulating calcium concentration	6023	RMRP	ORPHA:175
HP:0004363	Abnormal circulating calcium concentration	6521	SLC4A1	OMIM:179800
HP:0004363	Abnormal circulating calcium concentration	5286	PIK3C2A	OMIM:618440
HP:0004363	Abnormal circulating calcium concentration	5286	PIK3C2A	ORPHA:557003
HP:0004363	Abnormal circulating calcium concentration	50943	FOXP3	ORPHA:37042
HP:0004363	Abnormal circulating calcium concentration	50628	GEMIN4	OMIM:617913
HP:0004363	Abnormal circulating calcium concentration	54532	USP53	OMIM:619658
HP:0004363	Abnormal circulating calcium concentration	3117	HLA-DQA1	OMIM:212750
HP:0004363	Abnormal circulating calcium concentration	3119	HLA-DQB1	OMIM:212750
HP:0004363	Abnormal circulating calcium concentration	1312	COMT	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	221037	JMJD1C	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	2812	GP1BB	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6239	RREB1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	7290	HIRA	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	9632	SEC24C	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	7353	UFD1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	421	ARVCF	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	55764	IFT122	OMIM:218330
HP:0004363	Abnormal circulating calcium concentration	79087	ALG12	OMIM:607143
HP:0004363	Abnormal circulating calcium concentration	28962	OSTM1	OMIM:259720
HP:0004363	Abnormal circulating calcium concentration	37	ACADVL	ORPHA:26793
HP:0004363	Abnormal circulating calcium concentration	5573	PRKAR1A	ORPHA:280651
HP:0004363	Abnormal circulating calcium concentration	5144	PDE4D	ORPHA:280651
HP:0004363	Abnormal circulating calcium concentration	55636	CHD7	OMIM:214800
HP:0004363	Abnormal circulating calcium concentration	2783	GNB2	OMIM:619503
HP:0004363	Abnormal circulating calcium concentration	1188	CLCNKB	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	6559	SLC12A3	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	760	CA2	ORPHA:2785
HP:0004363	Abnormal circulating calcium concentration	3939	LDHA	ORPHA:284426
HP:0004363	Abnormal circulating calcium concentration	595	CCND1	ORPHA:29073
HP:0004363	Abnormal circulating calcium concentration	51604	PIGT	ORPHA:369837
HP:0004363	Abnormal circulating calcium concentration	6569	SLC34A1	OMIM:616963
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	5979	RET	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	5979	RET	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	5979	RET	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	4149	MAX	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	4149	MAX	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	1743	DLST	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4191	MDH2	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6389	SDHA	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	23095	KIF1B	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	2271	FH	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	8402	SLC25A11	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	54949	SDHAF2	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4763	NF1	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6391	SDHC	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6804	STX1A	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	7461	CLIP2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	84277	DNAJC30	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	8468	FKBP6	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	5982	RFC2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2969	GTF2I	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	3984	LIMK1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	9569	GTF2IRD1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	155382	VPS37D	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	155368	METTL27	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	114049	BUD23	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	7458	EIF4H	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	84163	GTF2IRD2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	9275	BCL7B	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	26608	TBL2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	653361	NCF1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	135886	TMEM270	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	51085	MLXIPL	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	51085	MLXIPL	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	9031	BAZ1B	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2006	ELN	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2006	ELN	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	64324	NSD1	ORPHA:821
HP:0004363	Abnormal circulating calcium concentration	29072	SETD2	ORPHA:821
HP:0004363	Abnormal circulating calcium concentration	10297	APC2	ORPHA:821
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:143
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:145000
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:145001
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:99880
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:608266
HP:0004363	Abnormal circulating calcium concentration	249	ALPL	OMIM:241500
HP:0004363	Abnormal circulating calcium concentration	7204	TRIO	ORPHA:476126
HP:0004363	Abnormal circulating calcium concentration	6523	SLC5A1	ORPHA:35710
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	OMIM:131100
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B	ORPHA:276152
HP:0004363	Abnormal circulating calcium concentration	1026	CDKN1A	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1030	CDKN2B	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1031	CDKN2C	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	4854	NOTCH3	ORPHA:2591
HP:0004363	Abnormal circulating calcium concentration	5745	PTH1R	OMIM:156400
HP:0004363	Abnormal circulating calcium concentration	9365	KL	OMIM:617994
HP:0004363	Abnormal circulating calcium concentration	2591	GALNT3	OMIM:211900
HP:0004363	Abnormal circulating calcium concentration	1788	DNMT3A	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	2034	EPAS1	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6557	SLC12A1	OMIM:601678
HP:0004363	Abnormal circulating calcium concentration	1175	AP2S1	OMIM:600740
HP:0004363	Abnormal circulating calcium concentration	1591	CYP24A1	OMIM:143880
HP:0004363	Abnormal circulating calcium concentration	1028	CDKN1C	OMIM:614732
HP:0004363	Abnormal circulating calcium concentration	56244	BTNL2	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	3123	HLA-DRB1	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	1758	DMP1	ORPHA:289176
HP:0004363	Abnormal circulating calcium concentration	5167	ENPP1	ORPHA:289176
HP:0004363	Abnormal circulating calcium concentration	1497	CTNS	ORPHA:411634
HP:0004363	Abnormal circulating calcium concentration	149461	CLDN19	OMIM:248190
HP:0004363	Abnormal circulating calcium concentration	5251	PHEX	OMIM:307800
HP:0004363	Abnormal circulating calcium concentration	10686	CLDN16	OMIM:248250
HP:0004363	Abnormal circulating calcium concentration	6575	SLC20A2	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	5155	PDGFB	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	5159	PDGFRB	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	55811	ADCY10	ORPHA:2197
HP:0004363	Abnormal circulating calcium concentration	79879	CCDC134	OMIM:619795
HP:0004363	Abnormal circulating calcium concentration	10568	SLC34A2	ORPHA:60025
HP:0004363	Abnormal circulating calcium concentration	142680	SLC34A3	OMIM:241530
HP:0040078	Axonal degeneration	23064	SETX	OMIM:602433
HP:0040078	Axonal degeneration	10801	SEPTIN9	OMIM:162100
HP:0040078	Axonal degeneration	28982	FLVCR1	ORPHA:88628
HP:0040078	Axonal degeneration	23321	TRIM2	OMIM:615490
HP:0040078	Axonal degeneration	215	ABCD1	ORPHA:139399
HP:0040078	Axonal degeneration	1593	CYP27A1	ORPHA:909
HP:0040078	Axonal degeneration	2074	ERCC6	OMIM:278800
HP:0040078	Axonal degeneration	710	SERPING1	OMIM:106100
HP:0040078	Axonal degeneration	4668	NAGA	OMIM:609242
HP:0040078	Axonal degeneration	79628	SH3TC2	OMIM:601596
HP:0040078	Axonal degeneration	9150	CTDP1	OMIM:604168
HP:0040078	Axonal degeneration	25828	TXN2	ORPHA:478029
HP:0040078	Axonal degeneration	25828	TXN2	OMIM:616811
HP:0040078	Axonal degeneration	2705	GJB1	OMIM:302800
HP:0040078	Axonal degeneration	3508	IGHMBP2	OMIM:616155
HP:0040078	Axonal degeneration	3508	IGHMBP2	OMIM:604320
HP:0040078	Axonal degeneration	3908	LAMA2	OMIM:618138
HP:0040078	Axonal degeneration	54840	APTX	OMIM:208920
HP:0040078	Axonal degeneration	89874	SLC25A21	OMIM:618811
HP:0040078	Axonal degeneration	90678	LRSAM1	OMIM:614436
HP:0040078	Axonal degeneration	54332	GDAP1	OMIM:214400
HP:0040078	Axonal degeneration	10342	TFG	OMIM:604484
HP:0040078	Axonal degeneration	4000	LMNA	ORPHA:98856
HP:0040078	Axonal degeneration	1785	DNM2	OMIM:606482
HP:0040078	Axonal degeneration	65055	REEP1	OMIM:620011
HP:0040079	Irregular dentition	64802	NMNAT1	OMIM:619260
HP:0040079	Irregular dentition	4784	NFIX	OMIM:602535
HP:0040079	Irregular dentition	54453	RIN2	ORPHA:217335
HP:0040079	Irregular dentition	54453	RIN2	OMIM:613075
HP:0040079	Irregular dentition	79633	FAT4	OMIM:616006
HP:0040079	Irregular dentition	79633	FAT4	OMIM:615546
HP:0040079	Irregular dentition	79633	FAT4	ORPHA:314679
HP:0040079	Irregular dentition	6662	SOX9	OMIM:114290
HP:0040079	Irregular dentition	8642	DCHS1	ORPHA:314679
HP:0040079	Irregular dentition	8642	DCHS1	OMIM:601390
HP:0040079	Irregular dentition	79583	TMEM231	ORPHA:2752
HP:0040080	Anteverted ears	7994	KAT6A	OMIM:616268
HP:0040080	Anteverted ears	284252	KCTD1	OMIM:181270
HP:0040080	Anteverted ears	284058	KANSL1	OMIM:610443
HP:0040080	Anteverted ears	3149	HMGB3	OMIM:300915
HP:0040080	Anteverted ears	54880	BCOR	OMIM:300166
HP:0040080	Anteverted ears	6134	RPL10	ORPHA:459070
HP:0040080	Anteverted ears	5087	PBX1	OMIM:617641
HP:0040080	Anteverted ears	80185	TTI2	OMIM:615541
HP:0040080	Anteverted ears	8913	CACNA1G	OMIM:618087
HP:0040080	Anteverted ears	8831	SYNGAP1	ORPHA:544254
HP:0040080	Anteverted ears	2248	FGF3	OMIM:610706
HP:0040081	Abnormal circulating creatine kinase concentration	9015	TAF1A	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	5663	PSEN1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	6389	SDHA	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7112	TMPO	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	9464	HAND2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	4625	MYH7	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	4625	MYH7	OMIM:160500
HP:0040081	Abnormal circulating creatine kinase concentration	4625	MYH7	OMIM:255160
HP:0040081	Abnormal circulating creatine kinase concentration	4625	MYH7	ORPHA:437572
HP:0040081	Abnormal circulating creatine kinase concentration	88	ACTN2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	88	ACTN2	OMIM:618655
HP:0040081	Abnormal circulating creatine kinase concentration	10486	CAP2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	10060	ABCC9	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7168	TPM1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7414	VCL	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1832	DSP	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	70	ACTC1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	27063	ANKRD1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	8048	CSRP3	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1410	CRYAB	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1410	CRYAB	OMIM:608810
HP:0040081	Abnormal circulating creatine kinase concentration	1410	CRYAB	OMIM:615184
HP:0040081	Abnormal circulating creatine kinase concentration	1410	CRYAB	OMIM:613869
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	OMIM:181350
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	OMIM:613205
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	ORPHA:98855
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	ORPHA:98853
HP:0040081	Abnormal circulating creatine kinase concentration	4000	LMNA	OMIM:616516
HP:0040081	Abnormal circulating creatine kinase concentration	7139	TNNT2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1829	DSG2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	3910	LAMA4	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	63976	PRDM16	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7273	TTN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7273	TTN	OMIM:608807
HP:0040081	Abnormal circulating creatine kinase concentration	7273	TTN	OMIM:603689
HP:0040081	Abnormal circulating creatine kinase concentration	7273	TTN	OMIM:611705
HP:0040081	Abnormal circulating creatine kinase concentration	7273	TTN	ORPHA:178464
HP:0040081	Abnormal circulating creatine kinase concentration	10587	TXNRD2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	9531	BAG3	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	9531	BAG3	OMIM:612954
HP:0040081	Abnormal circulating creatine kinase concentration	5350	PLN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	91624	NEXN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	79717	PPCS	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	5664	PSEN2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	4624	MYH6	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	9529	BAG5	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	4607	MYBPC3	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	282996	RBM20	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7137	TNNI3	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	11155	LDB3	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	11155	LDB3	OMIM:609452
HP:0040081	Abnormal circulating creatine kinase concentration	2274	FHL2	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	6901	TAFAZZIN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	22845	DOLK	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	5894	RAF1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	OMIM:310200
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	ORPHA:98895
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	ORPHA:98896
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	ORPHA:206546
HP:0040081	Abnormal circulating creatine kinase concentration	1756	DMD	OMIM:300376
HP:0040081	Abnormal circulating creatine kinase concentration	57798	GATAD1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	7134	TNNC1	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	84665	MYPN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1674	DES	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	1674	DES	OMIM:604765
HP:0040081	Abnormal circulating creatine kinase concentration	6444	SGCD	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	6444	SGCD	OMIM:601287
HP:0040081	Abnormal circulating creatine kinase concentration	6444	SGCD	OMIM:606685
HP:0040081	Abnormal circulating creatine kinase concentration	6331	SCN5A	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	OMIM:236670
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	OMIM:611615
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	OMIM:253800
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	OMIM:611588
HP:0040081	Abnormal circulating creatine kinase concentration	2218	FKTN	OMIM:613152
HP:0040081	Abnormal circulating creatine kinase concentration	8557	TCAP	ORPHA:154
HP:0040081	Abnormal circulating creatine kinase concentration	8557	TCAP	OMIM:601954
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	OMIM:615350
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	OMIM:615351
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	OMIM:615352
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	ORPHA:370968
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	ORPHA:353327
HP:0040081	Abnormal circulating creatine kinase concentration	29925	GMPPB	ORPHA:363623
HP:0040081	Abnormal circulating creatine kinase concentration	3094	HINT1	ORPHA:324442
HP:0040081	Abnormal circulating creatine kinase concentration	3094	HINT1	OMIM:137200
HP:0040081	Abnormal circulating creatine kinase concentration	8106	PABPN1	ORPHA:270
HP:0040081	Abnormal circulating creatine kinase concentration	8106	PABPN1	OMIM:164300
HP:0040081	Abnormal circulating creatine kinase concentration	7415	VCP	OMIM:616687
HP:0040081	Abnormal circulating creatine kinase concentration	7415	VCP	OMIM:167320
HP:0040081	Abnormal circulating creatine kinase concentration	7415	VCP	ORPHA:435387
HP:0040081	Abnormal circulating creatine kinase concentration	7415	VCP	OMIM:613954
HP:0040081	Abnormal circulating creatine kinase concentration	7415	VCP	ORPHA:52430
HP:0040081	Abnormal circulating creatine kinase concentration	60684	TRAPPC11	OMIM:615356
HP:0040081	Abnormal circulating creatine kinase concentration	400916	CHCHD10	OMIM:616209
HP:0040081	Abnormal circulating creatine kinase concentration	400916	CHCHD10	OMIM:615048
HP:0040081	Abnormal circulating creatine kinase concentration	400916	CHCHD10	ORPHA:276435
HP:0040081	Abnormal circulating creatine kinase concentration	5361	PLXNA1	OMIM:619955
HP:0040081	Abnormal circulating creatine kinase concentration	55733	HHAT	OMIM:600092
HP:0040081	Abnormal circulating creatine kinase concentration	8291	DYSF	OMIM:253601
HP:0040081	Abnormal circulating creatine kinase concentration	8291	DYSF	ORPHA:268
HP:0040081	Abnormal circulating creatine kinase concentration	8291	DYSF	OMIM:254130
HP:0040081	Abnormal circulating creatine kinase concentration	8291	DYSF	OMIM:606768
HP:0040081	Abnormal circulating creatine kinase concentration	825	CAPN3	OMIM:253600
HP:0040081	Abnormal circulating creatine kinase concentration	825	CAPN3	ORPHA:267
HP:0040081	Abnormal circulating creatine kinase concentration	825	CAPN3	OMIM:618129
HP:0040081	Abnormal circulating creatine kinase concentration	22947	DUX4L1	ORPHA:269
HP:0040081	Abnormal circulating creatine kinase concentration	1789	DNMT3B	ORPHA:269
HP:0040081	Abnormal circulating creatine kinase concentration	2483	FRG1	ORPHA:269
HP:0040081	Abnormal circulating creatine kinase concentration	2483	FRG1	OMIM:158900
HP:0040081	Abnormal circulating creatine kinase concentration	23347	SMCHD1	ORPHA:269
HP:0040081	Abnormal circulating creatine kinase concentration	100288687	DUX4	ORPHA:269
HP:0040081	Abnormal circulating creatine kinase concentration	9499	MYOT	ORPHA:266
HP:0040081	Abnormal circulating creatine kinase concentration	9499	MYOT	OMIM:609200
HP:0040081	Abnormal circulating creatine kinase concentration	9499	MYOT	ORPHA:98911
HP:0040081	Abnormal circulating creatine kinase concentration	5339	PLEC	ORPHA:254361
HP:0040081	Abnormal circulating creatine kinase concentration	5339	PLEC	OMIM:613723
HP:0040081	Abnormal circulating creatine kinase concentration	5339	PLEC	ORPHA:158684
HP:0040081	Abnormal circulating creatine kinase concentration	3074	HEXB	ORPHA:309169
HP:0040081	Abnormal circulating creatine kinase concentration	1785	DNM2	OMIM:615368
HP:0040081	Abnormal circulating creatine kinase concentration	84466	MEGF10	OMIM:614399
HP:0040081	Abnormal circulating creatine kinase concentration	84197	POMK	OMIM:615249
HP:0040081	Abnormal circulating creatine kinase concentration	84197	POMK	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	84197	POMK	OMIM:616094
HP:0040081	Abnormal circulating creatine kinase concentration	22954	TRIM32	ORPHA:1878
HP:0040081	Abnormal circulating creatine kinase concentration	22954	TRIM32	OMIM:254110
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	OMIM:606612
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	ORPHA:34515
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	OMIM:236670
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	ORPHA:370968
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	OMIM:607155
HP:0040081	Abnormal circulating creatine kinase concentration	79147	FKRP	OMIM:613153
HP:0040081	Abnormal circulating creatine kinase concentration	55154	MSTO1	OMIM:617675
HP:0040081	Abnormal circulating creatine kinase concentration	311	ANXA11	OMIM:619733
HP:0040081	Abnormal circulating creatine kinase concentration	29958	DMGDH	ORPHA:243343
HP:0040081	Abnormal circulating creatine kinase concentration	29958	DMGDH	OMIM:605850
HP:0040081	Abnormal circulating creatine kinase concentration	6445	SGCG	OMIM:253700
HP:0040081	Abnormal circulating creatine kinase concentration	6445	SGCG	ORPHA:353
HP:0040081	Abnormal circulating creatine kinase concentration	1605	DAG1	ORPHA:280333
HP:0040081	Abnormal circulating creatine kinase concentration	1605	DAG1	ORPHA:370997
HP:0040081	Abnormal circulating creatine kinase concentration	1605	DAG1	OMIM:613818
HP:0040081	Abnormal circulating creatine kinase concentration	1605	DAG1	OMIM:616538
HP:0040081	Abnormal circulating creatine kinase concentration	1303	COL12A1	OMIM:616471
HP:0040081	Abnormal circulating creatine kinase concentration	1303	COL12A1	ORPHA:610
HP:0040081	Abnormal circulating creatine kinase concentration	1303	COL12A1	ORPHA:75840
HP:0040081	Abnormal circulating creatine kinase concentration	7386	UQCRFS1	OMIM:618775
HP:0040081	Abnormal circulating creatine kinase concentration	5442	POLRMT	OMIM:619743
HP:0040081	Abnormal circulating creatine kinase concentration	83636	C19orf12	OMIM:614298
HP:0040081	Abnormal circulating creatine kinase concentration	5224	PGAM2	OMIM:261670
HP:0040081	Abnormal circulating creatine kinase concentration	844	CASQ1	OMIM:616231
HP:0040081	Abnormal circulating creatine kinase concentration	844	CASQ1	ORPHA:88635
HP:0040081	Abnormal circulating creatine kinase concentration	246243	RNASEH1	OMIM:616479
HP:0040081	Abnormal circulating creatine kinase concentration	54840	APTX	OMIM:208920
HP:0040081	Abnormal circulating creatine kinase concentration	79731	NARS2	OMIM:616239
HP:0040081	Abnormal circulating creatine kinase concentration	284439	SLC25A42	OMIM:618416
HP:0040081	Abnormal circulating creatine kinase concentration	4359	MPZ	ORPHA:101082
HP:0040081	Abnormal circulating creatine kinase concentration	59341	TRPV4	OMIM:600175
HP:0040081	Abnormal circulating creatine kinase concentration	6261	RYR1	ORPHA:597
HP:0040081	Abnormal circulating creatine kinase concentration	6261	RYR1	OMIM:619542
HP:0040081	Abnormal circulating creatine kinase concentration	6261	RYR1	ORPHA:424107
HP:0040081	Abnormal circulating creatine kinase concentration	6261	RYR1	OMIM:145600
HP:0040081	Abnormal circulating creatine kinase concentration	6261	RYR1	ORPHA:466650
HP:0040081	Abnormal circulating creatine kinase concentration	1763	DNA2	OMIM:615156
HP:0040081	Abnormal circulating creatine kinase concentration	9453	GGPS1	OMIM:619518
HP:0040081	Abnormal circulating creatine kinase concentration	148789	B3GALNT2	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	148789	B3GALNT2	OMIM:615181
HP:0040081	Abnormal circulating creatine kinase concentration	9215	LARGE1	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	9215	LARGE1	OMIM:236670
HP:0040081	Abnormal circulating creatine kinase concentration	9215	LARGE1	ORPHA:370968
HP:0040081	Abnormal circulating creatine kinase concentration	9215	LARGE1	OMIM:608840
HP:0040081	Abnormal circulating creatine kinase concentration	9215	LARGE1	OMIM:613154
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	OMIM:236670
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	ORPHA:370968
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	ORPHA:206559
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	OMIM:613150
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	OMIM:613156
HP:0040081	Abnormal circulating creatine kinase concentration	29954	POMT2	OMIM:613158
HP:0040081	Abnormal circulating creatine kinase concentration	55624	POMGNT1	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	55624	POMGNT1	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	55624	POMGNT1	OMIM:253280
HP:0040081	Abnormal circulating creatine kinase concentration	55624	POMGNT1	OMIM:613151
HP:0040081	Abnormal circulating creatine kinase concentration	55624	POMGNT1	OMIM:613157
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	ORPHA:588
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	OMIM:236670
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	ORPHA:370968
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	ORPHA:370959
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	OMIM:609308
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	ORPHA:86812
HP:0040081	Abnormal circulating creatine kinase concentration	10585	POMT1	OMIM:613155
HP:0040081	Abnormal circulating creatine kinase concentration	8818	DPM2	OMIM:615042
HP:0040081	Abnormal circulating creatine kinase concentration	8818	DPM2	ORPHA:329178
HP:0040081	Abnormal circulating creatine kinase concentration	11041	B4GAT1	OMIM:615287
HP:0040081	Abnormal circulating creatine kinase concentration	56652	TWNK	OMIM:616138
HP:0040081	Abnormal circulating creatine kinase concentration	56652	TWNK	ORPHA:254892
HP:0040081	Abnormal circulating creatine kinase concentration	10342	TFG	ORPHA:90117
HP:0040081	Abnormal circulating creatine kinase concentration	10531	PITRM1	OMIM:619405
HP:0040081	Abnormal circulating creatine kinase concentration	2683	B4GALT1	ORPHA:79332
HP:0040081	Abnormal circulating creatine kinase concentration	2683	B4GALT1	OMIM:607091
HP:0040081	Abnormal circulating creatine kinase concentration	91949	COG7	ORPHA:79333
HP:0040081	Abnormal circulating creatine kinase concentration	91949	COG7	OMIM:608779
HP:0040081	Abnormal circulating creatine kinase concentration	57104	PNPLA2	OMIM:610717
HP:0040081	Abnormal circulating creatine kinase concentration	57104	PNPLA2	ORPHA:565612
HP:0040081	Abnormal circulating creatine kinase concentration	57724	EPG5	OMIM:242840
HP:0040081	Abnormal circulating creatine kinase concentration	23299	BICD2	OMIM:615290
HP:0040081	Abnormal circulating creatine kinase concentration	339855	KY	OMIM:617114
HP:0040081	Abnormal circulating creatine kinase concentration	56983	POGLUT1	OMIM:617232
HP:0040081	Abnormal circulating creatine kinase concentration	859	CAV3	OMIM:123320
HP:0040081	Abnormal circulating creatine kinase concentration	859	CAV3	ORPHA:206599
HP:0040081	Abnormal circulating creatine kinase concentration	859	CAV3	OMIM:606072
HP:0040081	Abnormal circulating creatine kinase concentration	859	CAV3	OMIM:614321
HP:0040081	Abnormal circulating creatine kinase concentration	5213	PFKM	OMIM:232800
HP:0040081	Abnormal circulating creatine kinase concentration	3339	HSPG2	OMIM:255800
HP:0040081	Abnormal circulating creatine kinase concentration	3339	HSPG2	ORPHA:800
HP:0040081	Abnormal circulating creatine kinase concentration	8813	DPM1	ORPHA:79322
HP:0040081	Abnormal circulating creatine kinase concentration	8813	DPM1	OMIM:608799
HP:0040081	Abnormal circulating creatine kinase concentration	9526	MPDU1	ORPHA:79323
HP:0040081	Abnormal circulating creatine kinase concentration	5837	PYGM	ORPHA:368
HP:0040081	Abnormal circulating creatine kinase concentration	5837	PYGM	OMIM:232600
HP:0040081	Abnormal circulating creatine kinase concentration	4633	MYL2	OMIM:619424
HP:0040081	Abnormal circulating creatine kinase concentration	5256	PHKA2	ORPHA:264580
HP:0040081	Abnormal circulating creatine kinase concentration	5261	PHKG2	ORPHA:264580
HP:0040081	Abnormal circulating creatine kinase concentration	51693	TRAPPC2L	OMIM:618331
HP:0040081	Abnormal circulating creatine kinase concentration	58497	PRUNE1	ORPHA:544469
HP:0040081	Abnormal circulating creatine kinase concentration	6443	SGCB	ORPHA:119
HP:0040081	Abnormal circulating creatine kinase concentration	6443	SGCB	OMIM:604286
HP:0040081	Abnormal circulating creatine kinase concentration	389827	MYMK	OMIM:254940
HP:0040081	Abnormal circulating creatine kinase concentration	8803	SUCLA2	ORPHA:1933
HP:0040081	Abnormal circulating creatine kinase concentration	8803	SUCLA2	OMIM:612073
HP:0040081	Abnormal circulating creatine kinase concentration	58	ACTA1	ORPHA:97240
HP:0040081	Abnormal circulating creatine kinase concentration	58	ACTA1	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	291	SLC25A4	ORPHA:254892
HP:0040081	Abnormal circulating creatine kinase concentration	291	SLC25A4	OMIM:615418
HP:0040081	Abnormal circulating creatine kinase concentration	5428	POLG	ORPHA:254892
HP:0040081	Abnormal circulating creatine kinase concentration	5428	POLG	OMIM:258450
HP:0040081	Abnormal circulating creatine kinase concentration	5428	POLG	ORPHA:254886
HP:0040081	Abnormal circulating creatine kinase concentration	11232	POLG2	ORPHA:254892
HP:0040081	Abnormal circulating creatine kinase concentration	11232	POLG2	OMIM:610131
HP:0040081	Abnormal circulating creatine kinase concentration	50484	RRM2B	ORPHA:254892
HP:0040081	Abnormal circulating creatine kinase concentration	353116	RILPL1	OMIM:619790
HP:0040081	Abnormal circulating creatine kinase concentration	10020	GNE	OMIM:605820
HP:0040081	Abnormal circulating creatine kinase concentration	23516	SLC39A14	OMIM:617013
HP:0040081	Abnormal circulating creatine kinase concentration	160418	TMTC3	OMIM:617255
HP:0040081	Abnormal circulating creatine kinase concentration	79912	PYROXD1	OMIM:617258
HP:0040081	Abnormal circulating creatine kinase concentration	203547	VMA21	OMIM:310440
HP:0040081	Abnormal circulating creatine kinase concentration	10102	TSFM	OMIM:610505
HP:0040081	Abnormal circulating creatine kinase concentration	6442	SGCA	OMIM:608099
HP:0040081	Abnormal circulating creatine kinase concentration	6442	SGCA	ORPHA:62
HP:0040081	Abnormal circulating creatine kinase concentration	10049	DNAJB6	OMIM:603511
HP:0040081	Abnormal circulating creatine kinase concentration	1120	CHKB	OMIM:602541
HP:0040081	Abnormal circulating creatine kinase concentration	7555	CNBP	OMIM:602668
HP:0040081	Abnormal circulating creatine kinase concentration	7084	TK2	ORPHA:254886
HP:0040081	Abnormal circulating creatine kinase concentration	7084	TK2	OMIM:617069
HP:0040081	Abnormal circulating creatine kinase concentration	7084	TK2	OMIM:609560
HP:0040081	Abnormal circulating creatine kinase concentration	3714	JAG2	OMIM:619566
HP:0040081	Abnormal circulating creatine kinase concentration	729920	CRPPA	OMIM:616052
HP:0040081	Abnormal circulating creatine kinase concentration	729920	CRPPA	OMIM:614643
HP:0040081	Abnormal circulating creatine kinase concentration	92667	MGME1	OMIM:615084
HP:0040081	Abnormal circulating creatine kinase concentration	92667	MGME1	ORPHA:352447
HP:0040081	Abnormal circulating creatine kinase concentration	8867	SYNJ1	OMIM:617389
HP:0040081	Abnormal circulating creatine kinase concentration	63895	PIEZO2	OMIM:617146
HP:0040081	Abnormal circulating creatine kinase concentration	3939	LDHA	OMIM:612933
HP:0040081	Abnormal circulating creatine kinase concentration	2027	ENO3	OMIM:612932
HP:0040081	Abnormal circulating creatine kinase concentration	54344	DPM3	OMIM:612937
HP:0040081	Abnormal circulating creatine kinase concentration	6904	TBCD	ORPHA:496641
HP:0040081	Abnormal circulating creatine kinase concentration	6904	TBCD	OMIM:617193
HP:0040081	Abnormal circulating creatine kinase concentration	427	ASAH1	OMIM:159950
HP:0040081	Abnormal circulating creatine kinase concentration	8878	SQSTM1	OMIM:617158
HP:0040081	Abnormal circulating creatine kinase concentration	513	ATP5F1D	OMIM:618120
HP:0040081	Abnormal circulating creatine kinase concentration	2010	EMD	OMIM:310300
HP:0040081	Abnormal circulating creatine kinase concentration	2010	EMD	ORPHA:98863
HP:0040081	Abnormal circulating creatine kinase concentration	6821	SUOX	OMIM:272300
HP:0040081	Abnormal circulating creatine kinase concentration	112812	FDX2	OMIM:251900
HP:0040081	Abnormal circulating creatine kinase concentration	191	AHCY	ORPHA:88618
HP:0040081	Abnormal circulating creatine kinase concentration	6329	SCN4A	ORPHA:682
HP:0040081	Abnormal circulating creatine kinase concentration	6329	SCN4A	OMIM:608390
HP:0040081	Abnormal circulating creatine kinase concentration	84892	POMGNT2	OMIM:618135
HP:0040081	Abnormal circulating creatine kinase concentration	7317	UBA1	OMIM:301830
HP:0040081	Abnormal circulating creatine kinase concentration	58472	SQOR	OMIM:619221
HP:0040081	Abnormal circulating creatine kinase concentration	2992	GYG1	OMIM:616199
HP:0040081	Abnormal circulating creatine kinase concentration	390594	KBTBD13	OMIM:609273
HP:0040081	Abnormal circulating creatine kinase concentration	3908	LAMA2	OMIM:618138
HP:0040081	Abnormal circulating creatine kinase concentration	3908	LAMA2	OMIM:607855
HP:0040081	Abnormal circulating creatine kinase concentration	8398	PLA2G6	OMIM:612953
HP:0040081	Abnormal circulating creatine kinase concentration	8425	LTBP4	ORPHA:98896
HP:0040081	Abnormal circulating creatine kinase concentration	65260	COA7	OMIM:618387
HP:0040081	Abnormal circulating creatine kinase concentration	51241	COX16	OMIM:619355
HP:0040081	Abnormal circulating creatine kinase concentration	37	ACADVL	OMIM:201475
HP:0040081	Abnormal circulating creatine kinase concentration	37	ACADVL	ORPHA:26793
HP:0040081	Abnormal circulating creatine kinase concentration	55697	VAC14	OMIM:617054
HP:0040081	Abnormal circulating creatine kinase concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0040081	Abnormal circulating creatine kinase concentration	788	SLC25A20	OMIM:212138
HP:0040081	Abnormal circulating creatine kinase concentration	7504	XK	OMIM:300842
HP:0040081	Abnormal circulating creatine kinase concentration	23230	VPS13A	OMIM:200150
HP:0040081	Abnormal circulating creatine kinase concentration	23230	VPS13A	ORPHA:2388
HP:0040081	Abnormal circulating creatine kinase concentration	6786	STIM1	OMIM:185070
HP:0040081	Abnormal circulating creatine kinase concentration	6786	STIM1	OMIM:160565
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	OMIM:300718
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	OMIM:300717
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	OMIM:300696
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	OMIM:300695
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	ORPHA:98863
HP:0040081	Abnormal circulating creatine kinase concentration	2273	FHL1	OMIM:300280
HP:0040081	Abnormal circulating creatine kinase concentration	226	ALDOA	OMIM:611881
HP:0040081	Abnormal circulating creatine kinase concentration	3030	HADHA	OMIM:609015
HP:0040081	Abnormal circulating creatine kinase concentration	1291	COL6A1	ORPHA:610
HP:0040081	Abnormal circulating creatine kinase concentration	1291	COL6A1	OMIM:158810
HP:0040081	Abnormal circulating creatine kinase concentration	1291	COL6A1	ORPHA:75840
HP:0040081	Abnormal circulating creatine kinase concentration	1292	COL6A2	ORPHA:610
HP:0040081	Abnormal circulating creatine kinase concentration	1292	COL6A2	OMIM:158810
HP:0040081	Abnormal circulating creatine kinase concentration	1292	COL6A2	ORPHA:75840
HP:0040081	Abnormal circulating creatine kinase concentration	1292	COL6A2	OMIM:255600
HP:0040081	Abnormal circulating creatine kinase concentration	1293	COL6A3	ORPHA:610
HP:0040081	Abnormal circulating creatine kinase concentration	1293	COL6A3	OMIM:158810
HP:0040081	Abnormal circulating creatine kinase concentration	1293	COL6A3	ORPHA:75840
HP:0040081	Abnormal circulating creatine kinase concentration	26092	TOR1AIP1	OMIM:617072
HP:0040081	Abnormal circulating creatine kinase concentration	1716	DGUOK	OMIM:617070
HP:0040081	Abnormal circulating creatine kinase concentration	5236	PGM1	OMIM:614921
HP:0040081	Abnormal circulating creatine kinase concentration	1282	COL4A1	OMIM:611773
HP:0040081	Abnormal circulating creatine kinase concentration	1282	COL4A1	OMIM:175780
HP:0040081	Abnormal circulating creatine kinase concentration	1376	CPT2	ORPHA:228302
HP:0040081	Abnormal circulating creatine kinase concentration	1376	CPT2	ORPHA:228305
HP:0040081	Abnormal circulating creatine kinase concentration	1376	CPT2	ORPHA:228308
HP:0040081	Abnormal circulating creatine kinase concentration	1376	CPT2	OMIM:600649
HP:0040081	Abnormal circulating creatine kinase concentration	1376	CPT2	OMIM:608836
HP:0040081	Abnormal circulating creatine kinase concentration	779	CACNA1S	OMIM:620246
HP:0040081	Abnormal circulating creatine kinase concentration	2801	GOLGA2	OMIM:620240
HP:0040081	Abnormal circulating creatine kinase concentration	9054	NFS1	OMIM:619386
HP:0040081	Abnormal circulating creatine kinase concentration	125170	MIEF2	OMIM:619024
HP:0040081	Abnormal circulating creatine kinase concentration	90523	MLIP	OMIM:620138
HP:0040081	Abnormal circulating creatine kinase concentration	23224	SYNE2	OMIM:612999
HP:0040081	Abnormal circulating creatine kinase concentration	23224	SYNE2	ORPHA:98853
HP:0040081	Abnormal circulating creatine kinase concentration	23345	SYNE1	OMIM:612998
HP:0040081	Abnormal circulating creatine kinase concentration	23345	SYNE1	ORPHA:98853
HP:0040081	Abnormal circulating creatine kinase concentration	203859	ANO5	OMIM:611307
HP:0040081	Abnormal circulating creatine kinase concentration	203859	ANO5	ORPHA:206549
HP:0040081	Abnormal circulating creatine kinase concentration	203859	ANO5	OMIM:613319
HP:0040081	Abnormal circulating creatine kinase concentration	9987	HNRNPDL	OMIM:609115
HP:0040081	Abnormal circulating creatine kinase concentration	6584	SLC22A5	OMIM:212140
HP:0040081	Abnormal circulating creatine kinase concentration	64374	SIL1	OMIM:248800
HP:0040081	Abnormal circulating creatine kinase concentration	3691	ITGB4	ORPHA:158684
HP:0040081	Abnormal circulating creatine kinase concentration	80308	FLAD1	OMIM:255100
HP:0040081	Abnormal circulating creatine kinase concentration	9782	MATR3	OMIM:606070
HP:0040081	Abnormal circulating creatine kinase concentration	6840	SVIL	OMIM:619040
HP:0040081	Abnormal circulating creatine kinase concentration	7169	TPM2	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	4703	NEB	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	10324	KLHL41	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	56203	LMOD3	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	1073	CFL2	ORPHA:171436
HP:0040081	Abnormal circulating creatine kinase concentration	23600	AMACR	ORPHA:79095
HP:0040081	Abnormal circulating creatine kinase concentration	2673	GFPT1	ORPHA:353327
HP:0040081	Abnormal circulating creatine kinase concentration	1798	DPAGT1	ORPHA:353327
HP:0040081	Abnormal circulating creatine kinase concentration	85365	ALG2	ORPHA:353327
HP:0040081	Abnormal circulating creatine kinase concentration	199857	ALG14	ORPHA:353327
HP:0040081	Abnormal circulating creatine kinase concentration	3736	KCNA1	ORPHA:972
HP:0040081	Abnormal circulating creatine kinase concentration	3736	KCNA1	OMIM:160120
HP:0040081	Abnormal circulating creatine kinase concentration	116228	COX20	OMIM:619054
HP:0040081	Abnormal circulating creatine kinase concentration	100131801	PET100	OMIM:619055
HP:0040081	Abnormal circulating creatine kinase concentration	55858	TMEM165	OMIM:614727
HP:0040081	Abnormal circulating creatine kinase concentration	29967	LRP12	OMIM:164310
HP:0040081	Abnormal circulating creatine kinase concentration	9570	GOSR2	OMIM:620166
HP:0040081	Abnormal circulating creatine kinase concentration	9570	GOSR2	OMIM:614018
HP:0040081	Abnormal circulating creatine kinase concentration	7156	TOP3A	OMIM:618098
HP:0040081	Abnormal circulating creatine kinase concentration	9131	AIFM1	OMIM:310490
HP:0040081	Abnormal circulating creatine kinase concentration	4598	MVK	OMIM:610377
HP:0040081	Abnormal circulating creatine kinase concentration	374393	FAM111B	OMIM:615704
HP:0040081	Abnormal circulating creatine kinase concentration	4952	OCRL	OMIM:300555
HP:0040081	Abnormal circulating creatine kinase concentration	4952	OCRL	OMIM:309000
HP:0040081	Abnormal circulating creatine kinase concentration	5255	PHKA1	OMIM:300559
HP:0040081	Abnormal circulating creatine kinase concentration	3991	LIPE	ORPHA:435660
HP:0040081	Abnormal circulating creatine kinase concentration	3991	LIPE	OMIM:615980
HP:0040081	Abnormal circulating creatine kinase concentration	23533	PIK3R5	ORPHA:64753
HP:0040081	Abnormal circulating creatine kinase concentration	23064	SETX	ORPHA:64753
HP:0040081	Abnormal circulating creatine kinase concentration	23064	SETX	OMIM:606002
HP:0040081	Abnormal circulating creatine kinase concentration	4744	NEFH	OMIM:616924
HP:0040081	Abnormal circulating creatine kinase concentration	6804	STX1A	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	7461	CLIP2	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	84277	DNAJC30	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	8468	FKBP6	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	5982	RFC2	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	2969	GTF2I	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	3984	LIMK1	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	9569	GTF2IRD1	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	155382	VPS37D	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	155368	METTL27	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	114049	BUD23	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	7458	EIF4H	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	84163	GTF2IRD2	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	9275	BCL7B	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	26608	TBL2	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	653361	NCF1	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	135886	TMEM270	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	51085	MLXIPL	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	9031	BAZ1B	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	2006	ELN	ORPHA:904
HP:0040081	Abnormal circulating creatine kinase concentration	84992	PIGY	OMIM:616809
HP:0040081	Abnormal circulating creatine kinase concentration	23175	LPIN1	OMIM:268200
HP:0040081	Abnormal circulating creatine kinase concentration	6566	SLC16A1	OMIM:245340
HP:0040081	Abnormal circulating creatine kinase concentration	2548	GAA	ORPHA:308552
HP:0040081	Abnormal circulating creatine kinase concentration	2548	GAA	OMIM:232300
HP:0040081	Abnormal circulating creatine kinase concentration	1299	COL9A3	OMIM:600969
HP:0040081	Abnormal circulating creatine kinase concentration	5165	PDK3	ORPHA:352675
HP:0040081	Abnormal circulating creatine kinase concentration	11149	BVES	OMIM:616812
HP:0040081	Abnormal circulating creatine kinase concentration	3178	HNRNPA1	ORPHA:52430
HP:0040081	Abnormal circulating creatine kinase concentration	3178	HNRNPA1	OMIM:615424
HP:0040081	Abnormal circulating creatine kinase concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0040081	Abnormal circulating creatine kinase concentration	3181	HNRNPA2B1	OMIM:615422
HP:0040081	Abnormal circulating creatine kinase concentration	34	ACADM	ORPHA:42
HP:0040081	Abnormal circulating creatine kinase concentration	1374	CPT1A	OMIM:255120
HP:0040081	Abnormal circulating creatine kinase concentration	84317	CCDC115	OMIM:616828
HP:0040081	Abnormal circulating creatine kinase concentration	2318	FLNC	OMIM:609524
HP:0040081	Abnormal circulating creatine kinase concentration	55679	LIMS2	OMIM:616827
HP:0040081	Abnormal circulating creatine kinase concentration	23479	ISCU	OMIM:255125
HP:0040081	Abnormal circulating creatine kinase concentration	3679	ITGA7	OMIM:613204
HP:0040081	Abnormal circulating creatine kinase concentration	284119	CAVIN1	OMIM:613327
HP:0040081	Abnormal circulating creatine kinase concentration	79188	TMEM43	ORPHA:98853
HP:0040081	Abnormal circulating creatine kinase concentration	132	ADK	OMIM:614300
HP:0040081	Abnormal circulating creatine kinase concentration	79650	USB1	OMIM:604173
HP:0040081	Abnormal circulating creatine kinase concentration	55593	OTUD5	OMIM:301056
HP:0040081	Abnormal circulating creatine kinase concentration	84876	ORAI1	OMIM:615883
HP:0040081	Abnormal circulating creatine kinase concentration	27235	COQ2	OMIM:607426
HP:0040081	Abnormal circulating creatine kinase concentration	55033	FKBP14	ORPHA:300179
HP:0040081	Abnormal circulating creatine kinase concentration	10616	RBCK1	OMIM:615895
HP:0040081	Abnormal circulating creatine kinase concentration	708	C1QBP	OMIM:617713
HP:0040081	Abnormal circulating creatine kinase concentration	5257	PHKB	ORPHA:79240
HP:0040081	Abnormal circulating creatine kinase concentration	128989	TANGO2	ORPHA:480864
HP:0040081	Abnormal circulating creatine kinase concentration	128989	TANGO2	OMIM:616878
HP:0040081	Abnormal circulating creatine kinase concentration	84342	COG8	OMIM:611182
HP:0040081	Abnormal circulating creatine kinase concentration	57511	COG6	OMIM:614576
HP:0040081	Abnormal circulating creatine kinase concentration	64423	INF2	OMIM:614455
HP:0040081	Abnormal circulating creatine kinase concentration	760	CA2	ORPHA:2785
HP:0040081	Abnormal circulating creatine kinase concentration	10755	GIPC1	OMIM:618940
HP:0040081	Abnormal circulating creatine kinase concentration	10367	MICU1	OMIM:615673
HP:0040081	Abnormal circulating creatine kinase concentration	81689	ISCA1	OMIM:617613
HP:0040081	Abnormal circulating creatine kinase concentration	55278	QRSL1	OMIM:618835
HP:0040081	Abnormal circulating creatine kinase concentration	5188	GATB	OMIM:618838
HP:0040081	Abnormal circulating creatine kinase concentration	283459	GATC	OMIM:618839
HP:0040081	Abnormal circulating creatine kinase concentration	54888	NSUN2	OMIM:611091
HP:0040081	Abnormal circulating creatine kinase concentration	3920	LAMP2	OMIM:300257
HP:0040081	Abnormal circulating creatine kinase concentration	178	AGL	OMIM:232400
HP:0040081	Abnormal circulating creatine kinase concentration	29928	TIMM22	OMIM:618851
HP:0040081	Abnormal circulating creatine kinase concentration	4747	NEFL	OMIM:617882
HP:0040081	Abnormal circulating creatine kinase concentration	9907	AP5Z1	ORPHA:306511
HP:0040081	Abnormal circulating creatine kinase concentration	51763	INPP5K	OMIM:617404
HP:0040081	Abnormal circulating creatine kinase concentration	8449	DHX16	OMIM:618733
HP:0040081	Abnormal circulating creatine kinase concentration	367	AR	OMIM:313200
HP:0040081	Abnormal circulating creatine kinase concentration	284217	LAMA1	ORPHA:370022
HP:0040081	Abnormal circulating creatine kinase concentration	7072	TIA1	OMIM:604454
HP:0040081	Abnormal circulating creatine kinase concentration	7072	TIA1	ORPHA:603
HP:0040081	Abnormal circulating creatine kinase concentration	79784	MYH14	ORPHA:397744
HP:0040081	Abnormal circulating creatine kinase concentration	79784	MYH14	OMIM:614369
HP:0040081	Abnormal circulating creatine kinase concentration	100134444	KCNJ18	ORPHA:79102
HP:0040081	Abnormal circulating creatine kinase concentration	2556	GABRA3	ORPHA:79102
HP:0040081	Abnormal circulating creatine kinase concentration	274	BIN1	ORPHA:169189
HP:0040081	Abnormal circulating creatine kinase concentration	64419	MTMR14	ORPHA:169189
HP:0040081	Abnormal circulating creatine kinase concentration	64419	MTMR14	OMIM:160150
HP:0040081	Abnormal circulating creatine kinase concentration	4618	MYF6	ORPHA:169189
HP:0040081	Abnormal circulating creatine kinase concentration	4568	MT-TL2	ORPHA:663
HP:0040081	Abnormal circulating creatine kinase concentration	4567	MT-TL1	ORPHA:663
HP:0040081	Abnormal circulating creatine kinase concentration	4570	MT-TN	ORPHA:663
HP:0040081	Abnormal circulating creatine kinase concentration	4574	MT-TS1	ORPHA:663
HP:0040081	Abnormal circulating creatine kinase concentration	54870	QRICH1	OMIM:617982
HP:0040081	Abnormal circulating creatine kinase concentration	10730	YME1L1	OMIM:617302
HP:0040081	Abnormal circulating creatine kinase concentration	3033	HADH	ORPHA:71212
HP:0040081	Abnormal circulating creatine kinase concentration	4358	MPV17	OMIM:618400
HP:0040081	Abnormal circulating creatine kinase concentration	122622	ADSS1	OMIM:617030
HP:0040081	Abnormal circulating creatine kinase concentration	57449	PLEKHG5	OMIM:615376
HP:0040081	Abnormal circulating creatine kinase concentration	7170	TPM3	ORPHA:171439
HP:0040081	Abnormal circulating creatine kinase concentration	55681	SCYL2	ORPHA:1143
HP:0040081	Abnormal circulating creatine kinase concentration	84570	COL25A1	ORPHA:1143
HP:0040081	Abnormal circulating creatine kinase concentration	57222	ERGIC1	ORPHA:1143
HP:0040081	Abnormal circulating creatine kinase concentration	5190	PEX6	ORPHA:95433
HP:0040081	Abnormal circulating creatine kinase concentration	10008	KCNE3	ORPHA:681
HP:0040081	Abnormal circulating creatine kinase concentration	4556	MT-TE	ORPHA:254864
HP:0040081	Abnormal circulating creatine kinase concentration	55687	TRMU	ORPHA:254864
HP:0040081	Abnormal circulating creatine kinase concentration	9325	TRIP4	ORPHA:486815
HP:0040081	Abnormal circulating creatine kinase concentration	285489	DOK7	OMIM:254300
HP:0040081	Abnormal circulating creatine kinase concentration	270	AMPD1	ORPHA:45
HP:0040081	Abnormal circulating creatine kinase concentration	272	AMPD3	ORPHA:45
HP:0040081	Abnormal circulating creatine kinase concentration	28976	ACAD9	ORPHA:99901
HP:0040081	Abnormal circulating creatine kinase concentration	64208	POPDC3	OMIM:618848
HP:0040081	Abnormal circulating creatine kinase concentration	4512	MT-CO1	ORPHA:99845
HP:0040081	Abnormal circulating creatine kinase concentration	4514	MT-CO3	ORPHA:99845
HP:0040081	Abnormal circulating creatine kinase concentration	10463	SLC30A9	OMIM:617595
HP:0040081	Abnormal circulating creatine kinase concentration	1272	CNTN1	OMIM:612540
HP:0040081	Abnormal circulating creatine kinase concentration	51099	ABHD5	ORPHA:98907
HP:0040081	Abnormal circulating creatine kinase concentration	2632	GBE1	OMIM:232500
HP:0040081	Abnormal circulating creatine kinase concentration	9997	SCO2	ORPHA:521411
HP:0040081	Abnormal circulating creatine kinase concentration	10290	SPEG	OMIM:615959
HP:0040081	Abnormal circulating creatine kinase concentration	90624	LYRM7	OMIM:615838
HP:0040081	Abnormal circulating creatine kinase concentration	57731	SPTBN4	OMIM:617519
HP:0040081	Abnormal circulating creatine kinase concentration	9990	SLC12A6	OMIM:620068
HP:0040081	Abnormal circulating creatine kinase concentration	124093	CCDC78	OMIM:614807
HP:0040081	Abnormal circulating creatine kinase concentration	55958	KLHL9	ORPHA:399081
HP:0040081	Abnormal circulating creatine kinase concentration	4632	MYL1	OMIM:618414
HP:0040081	Abnormal circulating creatine kinase concentration	9200	HACD1	OMIM:619967
HP:0040081	Abnormal circulating creatine kinase concentration	10329	RXYLT1	ORPHA:899
HP:0040082	Happy demeanor	23314	SATB2	ORPHA:576283
HP:0040082	Happy demeanor	23314	SATB2	OMIM:612313
HP:0040082	Happy demeanor	7337	UBE3A	ORPHA:98794
HP:0040082	Happy demeanor	7337	UBE3A	OMIM:105830
HP:0040082	Happy demeanor	7337	UBE3A	ORPHA:411511
HP:0040082	Happy demeanor	7337	UBE3A	ORPHA:411515
HP:0040082	Happy demeanor	4948	OCA2	ORPHA:98794
HP:0040082	Happy demeanor	158	ADSL	OMIM:103050
HP:0040082	Happy demeanor	55773	TBC1D23	OMIM:617695
HP:0040082	Happy demeanor	1859	DYRK1A	OMIM:614104
HP:0040082	Happy demeanor	23394	ADNP	OMIM:615873
HP:0040082	Happy demeanor	80232	WDR26	OMIM:617616
HP:0040082	Happy demeanor	6638	SNRPN	OMIM:105830
HP:0040082	Happy demeanor	6638	SNRPN	ORPHA:177907
HP:0040082	Happy demeanor	6638	SNRPN	ORPHA:411515
HP:0040082	Happy demeanor	9839	ZEB2	OMIM:235730
HP:0040082	Happy demeanor	9839	ZEB2	ORPHA:261537
HP:0040082	Happy demeanor	9839	ZEB2	ORPHA:261552
HP:0040082	Happy demeanor	6925	TCF4	ORPHA:2896
HP:0040082	Happy demeanor	2898	GRIK2	OMIM:619580
HP:0040082	Happy demeanor	5575	PRKAR1B	OMIM:619680
HP:0040082	Happy demeanor	55869	HDAC8	OMIM:300882
HP:0040082	Happy demeanor	10479	SLC9A6	OMIM:300243
HP:0040082	Happy demeanor	171023	ASXL1	ORPHA:97297
HP:0040082	Happy demeanor	55617	TASP1	OMIM:618950
HP:0040082	Happy demeanor	57688	ZSWIM6	OMIM:617865
HP:0040082	Happy demeanor	9230	RAB11B	OMIM:617807
HP:0040082	Happy demeanor	57194	ATP10A	ORPHA:411515
HP:0040084	Abnormal circulating renin	10916	MAGED2	OMIM:300971
HP:0040084	Abnormal circulating renin	7809	BSND	ORPHA:89938
HP:0040084	Abnormal circulating renin	1188	CLCNKB	ORPHA:89938
HP:0040084	Abnormal circulating renin	1188	CLCNKB	OMIM:607364
HP:0040084	Abnormal circulating renin	1187	CLCNKA	ORPHA:89938
HP:0040084	Abnormal circulating renin	3766	KCNJ10	OMIM:612780
HP:0040084	Abnormal circulating renin	3766	KCNJ10	ORPHA:199343
HP:0040084	Abnormal circulating renin	1583	CYP11A1	ORPHA:168558
HP:0040084	Abnormal circulating renin	1583	CYP11A1	ORPHA:289548
HP:0040084	Abnormal circulating renin	3643	INSR	ORPHA:508
HP:0040084	Abnormal circulating renin	1585	CYP11B2	OMIM:203400
HP:0040084	Abnormal circulating renin	1585	CYP11B2	OMIM:610600
HP:0040084	Abnormal circulating renin	1585	CYP11B2	ORPHA:556030
HP:0040084	Abnormal circulating renin	6340	SCNN1G	OMIM:620126
HP:0040084	Abnormal circulating renin	6340	SCNN1G	ORPHA:171876
HP:0040084	Abnormal circulating renin	6338	SCNN1B	OMIM:620125
HP:0040084	Abnormal circulating renin	6338	SCNN1B	ORPHA:171876
HP:0040084	Abnormal circulating renin	846	CASR	OMIM:601198
HP:0040084	Abnormal circulating renin	6557	SLC12A1	OMIM:601678
HP:0040084	Abnormal circulating renin	6337	SCNN1A	ORPHA:171876
HP:0040084	Abnormal circulating renin	3758	KCNJ1	OMIM:241200
HP:0040084	Abnormal circulating renin	4306	NR3C2	OMIM:177735
HP:0040084	Abnormal circulating renin	6559	SLC12A3	OMIM:263800
HP:0040084	Abnormal circulating renin	1811	SLC26A3	OMIM:214700
HP:0040084	Abnormal circulating renin	3773	KCNJ16	OMIM:619406
HP:0040084	Abnormal circulating renin	3284	HSD3B2	ORPHA:90791
HP:0040084	Abnormal circulating renin	3291	HSD11B2	ORPHA:320
HP:0040084	Abnormal circulating renin	3291	HSD11B2	OMIM:218030
HP:0040084	Abnormal circulating renin	65125	WNK1	OMIM:614492
HP:0040084	Abnormal circulating renin	5447	POR	OMIM:201750
HP:0040084	Abnormal circulating renin	776	CACNA1D	OMIM:615474
HP:0040084	Abnormal circulating renin	554	AVPR2	OMIM:300539
HP:0040084	Abnormal circulating renin	1584	CYP11B1	OMIM:202010
HP:0040084	Abnormal circulating renin	1584	CYP11B1	OMIM:103900
HP:0040084	Abnormal circulating renin	1584	CYP11B1	ORPHA:90795
HP:0040084	Abnormal circulating renin	3762	KCNJ5	OMIM:613677
HP:0040084	Abnormal circulating renin	1586	CYP17A1	ORPHA:90793
HP:0040084	Abnormal circulating renin	56246	MRAP	OMIM:607398
HP:0040084	Abnormal circulating renin	23530	NNT	OMIM:614736
HP:0040084	Abnormal circulating renin	4158	MC2R	OMIM:202200
HP:0040084	Abnormal circulating renin	1181	CLCN2	ORPHA:404
HP:0040085	Abnormal circulating aldosterone	4221	MEN1	ORPHA:652
HP:0040085	Abnormal circulating aldosterone	1027	CDKN1B	ORPHA:652
HP:0040085	Abnormal circulating aldosterone	1026	CDKN1A	ORPHA:652
HP:0040085	Abnormal circulating aldosterone	1030	CDKN2B	ORPHA:652
HP:0040085	Abnormal circulating aldosterone	1031	CDKN2C	ORPHA:652
HP:0040085	Abnormal circulating aldosterone	6340	SCNN1G	ORPHA:171876
HP:0040085	Abnormal circulating aldosterone	6337	SCNN1A	ORPHA:171876
HP:0040085	Abnormal circulating aldosterone	6338	SCNN1B	ORPHA:171876
HP:0040085	Abnormal circulating aldosterone	56246	MRAP	OMIM:607398
HP:0040085	Abnormal circulating aldosterone	23530	NNT	OMIM:614736
HP:0040085	Abnormal circulating aldosterone	4158	MC2R	OMIM:202200
HP:0040085	Abnormal circulating aldosterone	554	AVPR2	OMIM:300539
HP:0040086	Abnormal prolactin level	55131	RBM28	ORPHA:157954
HP:0040086	Abnormal prolactin level	5626	PROP1	OMIM:262600
HP:0040086	Abnormal prolactin level	5626	PROP1	ORPHA:226307
HP:0040086	Abnormal prolactin level	1621	DBH	OMIM:223360
HP:0040086	Abnormal prolactin level	3547	IGSF1	OMIM:300888
HP:0040086	Abnormal prolactin level	89884	LHX4	ORPHA:226307
HP:0040086	Abnormal prolactin level	8022	LHX3	ORPHA:226307
HP:0040086	Abnormal prolactin level	5449	POU1F1	ORPHA:226307
HP:0040086	Abnormal prolactin level	5449	POU1F1	OMIM:613038
HP:0040086	Abnormal prolactin level	8820	HESX1	ORPHA:226307
HP:0040086	Abnormal prolactin level	8314	BAP1	ORPHA:2495
HP:0040086	Abnormal prolactin level	4771	NF2	ORPHA:2495
HP:0040086	Abnormal prolactin level	6598	SMARCB1	ORPHA:2495
HP:0040086	Abnormal prolactin level	5155	PDGFB	ORPHA:2495
HP:0040086	Abnormal prolactin level	84231	TRAF7	ORPHA:2495
HP:0040086	Abnormal prolactin level	6608	SMO	ORPHA:2495
HP:0040086	Abnormal prolactin level	207	AKT1	ORPHA:2495
HP:0040086	Abnormal prolactin level	5290	PIK3CA	ORPHA:2495
HP:0040086	Abnormal prolactin level	7015	TERT	ORPHA:2495
HP:0040086	Abnormal prolactin level	51684	SUFU	ORPHA:2495
HP:0040086	Abnormal prolactin level	6605	SMARCE1	ORPHA:2495
HP:0040086	Abnormal prolactin level	2778	GNAS	ORPHA:79443
HP:0040086	Abnormal prolactin level	2778	GNAS	ORPHA:79444
HP:0040086	Abnormal prolactin level	7201	TRHR	ORPHA:99832
HP:0040086	Abnormal prolactin level	6875	TAF4B	OMIM:615841
HP:0040086	Abnormal prolactin level	84225	ZMYND15	OMIM:615842
HP:0040086	Abnormal prolactin level	2737	GLI3	ORPHA:672
HP:0040086	Abnormal prolactin level	2736	GLI2	ORPHA:95494
HP:0040086	Abnormal prolactin level	3170	FOXA2	ORPHA:95494
HP:0040086	Abnormal prolactin level	5015	OTX2	ORPHA:95494
HP:0040086	Abnormal prolactin level	93953	GCNA	OMIM:301077
HP:0040086	Abnormal prolactin level	6658	SOX3	ORPHA:90695
HP:0040087	Abnormal blood folate concentration	10841	FTCD	ORPHA:51208
HP:0040087	Abnormal blood folate concentration	6948	TCN2	OMIM:275350
HP:0040087	Abnormal blood folate concentration	1719	DHFR	OMIM:613839
HP:0040087	Abnormal blood folate concentration	8029	CUBN	OMIM:261100
HP:0040087	Abnormal blood folate concentration	55593	OTUD5	OMIM:301056
HP:0040087	Abnormal blood folate concentration	113235	SLC46A1	OMIM:229050
HP:0040087	Abnormal blood folate concentration	3117	HLA-DQA1	OMIM:212750
HP:0040087	Abnormal blood folate concentration	3119	HLA-DQB1	OMIM:212750
HP:0040087	Abnormal blood folate concentration	374879	ZNF699	OMIM:619488
HP:0040088	Abnormal lymphocyte count	5728	PTEN	OMIM:605309
HP:0040088	Abnormal lymphocyte count	5728	PTEN	OMIM:158350
HP:0040088	Abnormal lymphocyte count	54892	NCAPG2	OMIM:618460
HP:0040088	Abnormal lymphocyte count	4860	PNP	OMIM:613179
HP:0040088	Abnormal lymphocyte count	4860	PNP	ORPHA:760
HP:0040088	Abnormal lymphocyte count	22800	RRAS2	OMIM:618624
HP:0040088	Abnormal lymphocyte count	6775	STAT4	ORPHA:93552
HP:0040088	Abnormal lymphocyte count	6696	SPP1	ORPHA:93552
HP:0040088	Abnormal lymphocyte count	3654	IRAK1	ORPHA:93552
HP:0040088	Abnormal lymphocyte count	7174	TPP2	ORPHA:444463
HP:0040088	Abnormal lymphocyte count	114803	MYSM1	ORPHA:508542
HP:0040088	Abnormal lymphocyte count	4522	MTHFD1	OMIM:617780
HP:0040088	Abnormal lymphocyte count	11151	CORO1A	OMIM:615401
HP:0040088	Abnormal lymphocyte count	26277	TINF2	OMIM:127550
HP:0040088	Abnormal lymphocyte count	7012	TERC	OMIM:127550
HP:0040088	Abnormal lymphocyte count	7015	TERT	OMIM:127550
HP:0040088	Abnormal lymphocyte count	9837	GINS1	OMIM:617827
HP:0040088	Abnormal lymphocyte count	1991	ELANE	ORPHA:2686
HP:0040088	Abnormal lymphocyte count	1991	ELANE	ORPHA:486
HP:0040088	Abnormal lymphocyte count	51816	ADA2	OMIM:182410
HP:0040088	Abnormal lymphocyte count	51816	ADA2	OMIM:615688
HP:0040088	Abnormal lymphocyte count	84196	USP48	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	7157	TP53	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	9101	USP8	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	64072	CDH23	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	2908	NR3C1	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	673	BRAF	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	546	ATRX	ORPHA:96253
HP:0040088	Abnormal lymphocyte count	916	CD3E	ORPHA:169160
HP:0040088	Abnormal lymphocyte count	916	CD3E	OMIM:615615
HP:0040088	Abnormal lymphocyte count	3930	LBR	OMIM:613471
HP:0040088	Abnormal lymphocyte count	1493	CTLA4	OMIM:616100
HP:0040088	Abnormal lymphocyte count	7128	TNFAIP3	OMIM:616744
HP:0040088	Abnormal lymphocyte count	92579	G6PC3	OMIM:612541
HP:0040088	Abnormal lymphocyte count	340061	STING1	OMIM:615934
HP:0040088	Abnormal lymphocyte count	7852	CXCR4	ORPHA:51636
HP:0040088	Abnormal lymphocyte count	4478	MSN	OMIM:300988
HP:0040088	Abnormal lymphocyte count	79415	CYBC1	OMIM:618935
HP:0040088	Abnormal lymphocyte count	3070	HELLS	ORPHA:2268
HP:0040088	Abnormal lymphocyte count	83879	CDCA7	ORPHA:2268
HP:0040088	Abnormal lymphocyte count	9841	ZBTB24	ORPHA:2268
HP:0040088	Abnormal lymphocyte count	23495	TNFRSF13B	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	4790	NFKB1	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	115650	TNFRSF13C	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	1380	CR2	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	8742	TNFSF12	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	930	CD19	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	29851	ICOS	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	931	MS4A1	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	975	CD81	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	359948	IRF2BP2	ORPHA:1572
HP:0040088	Abnormal lymphocyte count	55636	CHD7	OMIM:214800
HP:0040088	Abnormal lymphocyte count	200734	SPRED2	OMIM:619745
HP:0040088	Abnormal lymphocyte count	6773	STAT2	OMIM:616636
HP:0040088	Abnormal lymphocyte count	8883	NAE1	OMIM:620210
HP:0040088	Abnormal lymphocyte count	80185	TTI2	ORPHA:391307
HP:0040088	Abnormal lymphocyte count	3572	IL6ST	OMIM:619752
HP:0040088	Abnormal lymphocyte count	57217	TTC7A	OMIM:243150
HP:0040088	Abnormal lymphocyte count	54809	SAMD9	OMIM:617053
HP:0040088	Abnormal lymphocyte count	8879	SGPL1	OMIM:617575
HP:0040088	Abnormal lymphocyte count	6023	RMRP	OMIM:250250
HP:0040088	Abnormal lymphocyte count	9508	ADAMTS3	ORPHA:2136
HP:0040088	Abnormal lymphocyte count	147372	CCBE1	ORPHA:2136
HP:0040088	Abnormal lymphocyte count	79633	FAT4	ORPHA:2136
HP:0040088	Abnormal lymphocyte count	6789	STK4	OMIM:614868
HP:0040088	Abnormal lymphocyte count	7036	TFR2	OMIM:604250
HP:0040088	Abnormal lymphocyte count	51284	TLR7	OMIM:301080
HP:0040088	Abnormal lymphocyte count	6948	TCN2	ORPHA:859
HP:0040088	Abnormal lymphocyte count	64135	IFIH1	OMIM:619773
HP:0040088	Abnormal lymphocyte count	5692	PSMB4	OMIM:617591
HP:0040088	Abnormal lymphocyte count	5698	PSMB9	OMIM:617591
HP:0040088	Abnormal lymphocyte count	7518	XRCC4	OMIM:616541
HP:0040088	Abnormal lymphocyte count	204	AK2	OMIM:267500
HP:0040088	Abnormal lymphocyte count	4194	MDM4	OMIM:618849
HP:0040088	Abnormal lymphocyte count	10312	TCIRG1	ORPHA:486
HP:0040088	Abnormal lymphocyte count	2672	GFI1	ORPHA:486
HP:0040088	Abnormal lymphocyte count	6729	SRP54	ORPHA:486
HP:0040088	Abnormal lymphocyte count	81570	CLPB	ORPHA:486
HP:0040088	Abnormal lymphocyte count	404672	GTF2H5	OMIM:616395
HP:0040088	Abnormal lymphocyte count	9652	SKIC3	ORPHA:84064
HP:0040088	Abnormal lymphocyte count	6499	SKIC2	ORPHA:84064
HP:0040088	Abnormal lymphocyte count	5297	PI4KA	OMIM:619708
HP:0040088	Abnormal lymphocyte count	5557	PRIM1	OMIM:620005
HP:0040088	Abnormal lymphocyte count	4791	NFKB2	ORPHA:293978
HP:0040088	Abnormal lymphocyte count	100	ADA	ORPHA:277
HP:0040088	Abnormal lymphocyte count	1789	DNMT3B	OMIM:242860
HP:0040088	Abnormal lymphocyte count	6772	STAT1	ORPHA:391487
HP:0040088	Abnormal lymphocyte count	695	BTK	OMIM:300755
HP:0040088	Abnormal lymphocyte count	6909	TBX2	OMIM:618223
HP:0040088	Abnormal lymphocyte count	55388	MCM10	OMIM:619313
HP:0040088	Abnormal lymphocyte count	4683	NBN	OMIM:251260
HP:0040088	Abnormal lymphocyte count	3574	IL7	OMIM:618309
HP:0040088	Abnormal lymphocyte count	8737	RIPK1	OMIM:618108
HP:0040088	Abnormal lymphocyte count	5896	RAG1	OMIM:601457
HP:0040088	Abnormal lymphocyte count	5896	RAG1	ORPHA:231154
HP:0040088	Abnormal lymphocyte count	5896	RAG1	OMIM:233650
HP:0040088	Abnormal lymphocyte count	5897	RAG2	OMIM:601457
HP:0040088	Abnormal lymphocyte count	5897	RAG2	OMIM:233650
HP:0040088	Abnormal lymphocyte count	3718	JAK3	OMIM:600802
HP:0040088	Abnormal lymphocyte count	3718	JAK3	ORPHA:35078
HP:0040088	Abnormal lymphocyte count	23149	FCHO1	OMIM:619164
HP:0040088	Abnormal lymphocyte count	5591	PRKDC	OMIM:615966
HP:0040088	Abnormal lymphocyte count	79840	NHEJ1	ORPHA:169079
HP:0040088	Abnormal lymphocyte count	54	ACP5	OMIM:607944
HP:0040088	Abnormal lymphocyte count	4615	MYD88	OMIM:612260
HP:0040088	Abnormal lymphocyte count	919	CD247	OMIM:610163
HP:0040088	Abnormal lymphocyte count	915	CD3D	OMIM:615617
HP:0040088	Abnormal lymphocyte count	3431	SP110	ORPHA:79124
HP:0040088	Abnormal lymphocyte count	1794	DOCK2	OMIM:616433
HP:0040088	Abnormal lymphocyte count	5788	PTPRC	OMIM:619924
HP:0040088	Abnormal lymphocyte count	3071	NCKAP1L	OMIM:618982
HP:0040088	Abnormal lymphocyte count	84433	CARD11	OMIM:616452
HP:0040088	Abnormal lymphocyte count	2137	EXTL3	ORPHA:508533
HP:0040088	Abnormal lymphocyte count	57724	EPG5	OMIM:242840
HP:0040088	Abnormal lymphocyte count	7454	WAS	OMIM:301000
HP:0040088	Abnormal lymphocyte count	84061	MAGT1	OMIM:300853
HP:0040088	Abnormal lymphocyte count	10043	TOM1	OMIM:619510
HP:0040088	Abnormal lymphocyte count	3702	ITK	OMIM:613011
HP:0040088	Abnormal lymphocyte count	10625	IVNS1ABP	OMIM:618969
HP:0040088	Abnormal lymphocyte count	3551	IKBKB	OMIM:618204
HP:0040088	Abnormal lymphocyte count	3932	LCK	OMIM:615758
HP:0040088	Abnormal lymphocyte count	54440	SASH3	OMIM:301082
HP:0040088	Abnormal lymphocyte count	9094	UNC119	OMIM:615518
HP:0040088	Abnormal lymphocyte count	4609	MYC	ORPHA:543
HP:0040088	Abnormal lymphocyte count	3575	IL7R	ORPHA:169154
HP:0040088	Abnormal lymphocyte count	81704	DOCK8	OMIM:243700
HP:0040088	Abnormal lymphocyte count	56160	NSMCE3	OMIM:617241
HP:0040088	Abnormal lymphocyte count	472	ATM	OMIM:208900
HP:0040088	Abnormal lymphocyte count	3953	LEPR	ORPHA:179494
HP:0040088	Abnormal lymphocyte count	3952	LEP	ORPHA:66628
HP:0040088	Abnormal lymphocyte count	7456	WIPF1	OMIM:614493
HP:0040088	Abnormal lymphocyte count	917	CD3G	OMIM:615607
HP:0040088	Abnormal lymphocyte count	7535	ZAP70	OMIM:269840
HP:0040088	Abnormal lymphocyte count	7535	ZAP70	ORPHA:911
HP:0040088	Abnormal lymphocyte count	925	CD8A	OMIM:608957
HP:0040088	Abnormal lymphocyte count	51095	TRNT1	OMIM:616084
HP:0040088	Abnormal lymphocyte count	22806	IKZF3	OMIM:619437
HP:0040088	Abnormal lymphocyte count	8517	IKBKG	OMIM:301081
HP:0040088	Abnormal lymphocyte count	3507	IGHM	OMIM:601495
HP:0040088	Abnormal lymphocyte count	974	CD79B	OMIM:612692
HP:0040088	Abnormal lymphocyte count	23250	ATP11A	OMIM:619851
HP:0040088	Abnormal lymphocyte count	79087	ALG12	ORPHA:79324
HP:0040088	Abnormal lymphocyte count	51311	TLR8	OMIM:301078
HP:0040088	Abnormal lymphocyte count	567	B2M	OMIM:241600
HP:0040088	Abnormal lymphocyte count	10320	IKZF1	OMIM:616873
HP:0040088	Abnormal lymphocyte count	64858	DCLRE1B	OMIM:620133
HP:0040088	Abnormal lymphocyte count	51135	IRAK4	OMIM:607676
HP:0040088	Abnormal lymphocyte count	56259	CTNNBL1	OMIM:619846
HP:0040088	Abnormal lymphocyte count	5294	PIK3CG	OMIM:619802
HP:0040088	Abnormal lymphocyte count	5293	PIK3CD	ORPHA:221139
HP:0040088	Abnormal lymphocyte count	90417	KNSTRN	ORPHA:221139
HP:0040088	Abnormal lymphocyte count	96459	FNIP1	OMIM:619705
HP:0040088	Abnormal lymphocyte count	6688	SPI1	OMIM:619707
HP:0040088	Abnormal lymphocyte count	973	CD79A	OMIM:613501
HP:0040088	Abnormal lymphocyte count	3543	IGLL1	OMIM:613500
HP:0040088	Abnormal lymphocyte count	7922	SLC39A7	OMIM:619693
HP:0040088	Abnormal lymphocyte count	9138	ARHGEF1	OMIM:618459
HP:0040088	Abnormal lymphocyte count	60468	BACH2	OMIM:618394
HP:0040088	Abnormal lymphocyte count	8651	SOCS1	OMIM:619375
HP:0040088	Abnormal lymphocyte count	54790	TET2	OMIM:619126
HP:0040088	Abnormal lymphocyte count	10525	HYOU1	OMIM:233600
HP:0040088	Abnormal lymphocyte count	5336	PLCG2	OMIM:614878
HP:0040088	Abnormal lymphocyte count	3570	IL6R	OMIM:618944
HP:0040088	Abnormal lymphocyte count	987	LRBA	OMIM:614700
HP:0040088	Abnormal lymphocyte count	59067	IL21	OMIM:615767
HP:0040088	Abnormal lymphocyte count	3115	HLA-DPB1	ORPHA:133
HP:0040088	Abnormal lymphocyte count	64170	CARD9	OMIM:212050
HP:0040088	Abnormal lymphocyte count	355	FAS	ORPHA:3261
HP:0040088	Abnormal lymphocyte count	356	FASLG	ORPHA:3261
HP:0040088	Abnormal lymphocyte count	843	CASP10	ORPHA:3261
HP:0040088	Abnormal lymphocyte count	641	BLM	ORPHA:125
HP:0040088	Abnormal lymphocyte count	5238	PGM3	ORPHA:443811
HP:0040088	Abnormal lymphocyte count	5994	RFXAP	ORPHA:572
HP:0040088	Abnormal lymphocyte count	4261	CIITA	ORPHA:572
HP:0040088	Abnormal lymphocyte count	5993	RFX5	ORPHA:572
HP:0040088	Abnormal lymphocyte count	8625	RFXANK	ORPHA:572
HP:0040088	Abnormal lymphocyte count	9948	WDR1	OMIM:150550
HP:0040088	Abnormal lymphocyte count	6850	SYK	OMIM:619381
HP:0040088	Abnormal lymphocyte count	50943	FOXP3	ORPHA:37042
HP:0040088	Abnormal lymphocyte count	399	RHOH	OMIM:618307
HP:0040088	Abnormal lymphocyte count	3561	IL2RG	ORPHA:276
HP:0040088	Abnormal lymphocyte count	64919	BCL11B	OMIM:617237
HP:0040088	Abnormal lymphocyte count	64919	BCL11B	OMIM:618092
HP:0040088	Abnormal lymphocyte count	5880	RAC2	OMIM:618986
HP:0040088	Abnormal lymphocyte count	5880	RAC2	OMIM:618987
HP:0040088	Abnormal lymphocyte count	5880	RAC2	OMIM:608203
HP:0040088	Abnormal lymphocyte count	6117	RPA1	OMIM:619767
HP:0040088	Abnormal lymphocyte count	79991	STN1	OMIM:617341
HP:0040088	Abnormal lymphocyte count	8456	FOXN1	OMIM:618806
HP:0040088	Abnormal lymphocyte count	64421	DCLRE1C	OMIM:602450
HP:0040088	Abnormal lymphocyte count	3937	LCP2	OMIM:619374
HP:0040088	Abnormal lymphocyte count	10159	ATP6AP2	OMIM:301045
HP:0040088	Abnormal lymphocyte count	920	CD4	OMIM:619238
HP:0040088	Abnormal lymphocyte count	90268	OTULIN	OMIM:617099
HP:0040088	Abnormal lymphocyte count	5580	PRKCD	OMIM:615559
HP:0040088	Abnormal lymphocyte count	10125	RASGRP1	OMIM:618534
HP:0040088	Abnormal lymphocyte count	51371	POMP	OMIM:618048
HP:0040088	Abnormal lymphocyte count	2624	GATA2	OMIM:614038
HP:0040088	Abnormal lymphocyte count	841	CASP8	OMIM:607271
HP:0040088	Abnormal lymphocyte count	3559	IL2RA	OMIM:606367
HP:0040088	Abnormal lymphocyte count	8546	AP3B1	OMIM:608233
HP:0040088	Abnormal lymphocyte count	50619	DEF6	OMIM:619573
HP:0040088	Abnormal lymphocyte count	3560	IL2RB	OMIM:618495
HP:0040088	Abnormal lymphocyte count	84876	ORAI1	OMIM:612782
HP:0040088	Abnormal lymphocyte count	10892	MALT1	OMIM:615468
HP:0040088	Abnormal lymphocyte count	6786	STIM1	OMIM:612783
HP:0040088	Abnormal lymphocyte count	2000	ELF4	OMIM:301074
HP:0040088	Abnormal lymphocyte count	5966	REL	OMIM:619652
HP:0040088	Abnormal lymphocyte count	3845	KRAS	OMIM:614470
HP:0040088	Abnormal lymphocyte count	4893	NRAS	OMIM:614470
HP:0040088	Abnormal lymphocyte count	79621	RNASEH2B	OMIM:610181
HP:0040088	Abnormal lymphocyte count	54914	FOCAD	OMIM:619991
HP:0040088	Abnormal lymphocyte count	84823	LMNB2	ORPHA:79087
HP:0040088	Abnormal lymphocyte count	10095	ARPC1B	OMIM:617718
HP:0040088	Abnormal lymphocyte count	331	XIAP	OMIM:308240
HP:0040088	Abnormal lymphocyte count	4068	SH2D1A	OMIM:308240
HP:0040088	Abnormal lymphocyte count	9451	EIF2AK3	ORPHA:1667
HP:0040088	Abnormal lymphocyte count	56244	BTNL2	ORPHA:797
HP:0040088	Abnormal lymphocyte count	3123	HLA-DRB1	ORPHA:797
HP:0040088	Abnormal lymphocyte count	50485	SMARCAL1	ORPHA:1830
HP:0040088	Abnormal lymphocyte count	5295	PIK3R1	OMIM:616005
HP:0040088	Abnormal lymphocyte count	8915	BCL10	OMIM:616098
HP:0040088	Abnormal lymphocyte count	6929	TCF3	OMIM:619824
HP:0040088	Abnormal lymphocyte count	27040	LAT	OMIM:617514
HP:0040088	Abnormal lymphocyte count	3978	LIG1	OMIM:619774
HP:0040088	Abnormal lymphocyte count	1503	CTPS1	OMIM:615897
HP:0040089	Abnormal natural killer cell count	7535	ZAP70	OMIM:269840
HP:0040089	Abnormal natural killer cell count	64170	CARD9	OMIM:212050
HP:0040089	Abnormal natural killer cell count	5896	RAG1	ORPHA:331206
HP:0040089	Abnormal natural killer cell count	5897	RAG2	ORPHA:331206
HP:0040089	Abnormal natural killer cell count	3561	IL2RG	OMIM:312863
HP:0040089	Abnormal natural killer cell count	51135	IRAK4	OMIM:607676
HP:0040089	Abnormal natural killer cell count	3431	SP110	ORPHA:79124
HP:0040089	Abnormal natural killer cell count	4615	MYD88	OMIM:612260
HP:0040089	Abnormal natural killer cell count	1789	DNMT3B	OMIM:242860
HP:0040089	Abnormal natural killer cell count	970	CD70	OMIM:618261
HP:0040089	Abnormal natural killer cell count	3551	IKBKB	OMIM:615592
HP:0040089	Abnormal natural killer cell count	10043	TOM1	OMIM:619510
HP:0040089	Abnormal natural killer cell count	3572	IL6ST	OMIM:619752
HP:0040089	Abnormal natural killer cell count	55388	MCM10	OMIM:619313
HP:0040089	Abnormal natural killer cell count	5295	PIK3R1	OMIM:615214
HP:0040089	Abnormal natural killer cell count	5238	PGM3	ORPHA:443811
HP:0040089	Abnormal natural killer cell count	8737	RIPK1	OMIM:618108
HP:0040089	Abnormal natural killer cell count	54440	SASH3	OMIM:301082
HP:0040089	Abnormal natural killer cell count	5293	PIK3CD	ORPHA:221139
HP:0040089	Abnormal natural killer cell count	90417	KNSTRN	ORPHA:221139
HP:0040089	Abnormal natural killer cell count	4173	MCM4	OMIM:609981
HP:0040089	Abnormal natural killer cell count	8546	AP3B1	OMIM:608233
HP:0040089	Abnormal natural killer cell count	6850	SYK	OMIM:619381
HP:0040089	Abnormal natural killer cell count	2000	ELF4	OMIM:301074
HP:0040089	Abnormal natural killer cell count	58484	NLRC4	OMIM:616050
HP:0040089	Abnormal natural killer cell count	81704	DOCK8	OMIM:243700
HP:0040089	Abnormal natural killer cell count	2624	GATA2	OMIM:614172
HP:0040089	Abnormal natural killer cell count	567	B2M	OMIM:241600
HP:0040089	Abnormal natural killer cell count	5788	PTPRC	OMIM:619924
HP:0040089	Abnormal natural killer cell count	5294	PIK3CG	OMIM:619802
HP:0040089	Abnormal natural killer cell count	2214	FCGR3A	OMIM:615707
HP:0040089	Abnormal natural killer cell count	64858	DCLRE1B	OMIM:620133
HP:0040089	Abnormal natural killer cell count	3718	JAK3	OMIM:600802
HP:0040089	Abnormal natural killer cell count	3718	JAK3	ORPHA:35078
HP:0040089	Abnormal natural killer cell count	9837	GINS1	OMIM:617827
HP:0040095	Neoplasm of the outer ear	1146	CHRNG	OMIM:265000
HP:0040095	Neoplasm of the outer ear	10526	IPO8	OMIM:619472
HP:0040096	Neoplasm of the inner ear	3735	KARS1	OMIM:613641
HP:0040096	Neoplasm of the inner ear	161742	SPRED1	ORPHA:137605
HP:0040096	Neoplasm of the inner ear	3265	HRAS	OMIM:218040
HP:0040096	Neoplasm of the inner ear	6598	SMARCB1	OMIM:162091
HP:0040096	Neoplasm of the inner ear	4771	NF2	OMIM:101000
HP:0040096	Neoplasm of the inner ear	7428	VHL	ORPHA:892
HP:0040096	Neoplasm of the inner ear	595	CCND1	ORPHA:892
HP:0011700	Automatic atrial tachycardia	10370	CITED2	ORPHA:99105
HP:0011701	Multifocal atrial tachycardia	442721	LMOD2	OMIM:619897
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	859	CAV3	OMIM:611818
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	859	CAV3	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	801	CALM1	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3753	KCNE1	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3753	KCNE1	OMIM:613695
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3762	KCNJ5	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	805	CALM2	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	805	CALM2	OMIM:616249
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6910	TBX5	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3757	KCNH2	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	9992	KCNE2	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	9722	NOS1AP	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3784	KCNQ1	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6330	SCN4B	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	808	CALM3	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6640	SNTA1	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	287	ANK2	ORPHA:101016
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	287	ANK2	OMIM:600919
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	283446	MYO1H	OMIM:619482
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	51422	PRKAG2	OMIM:600858
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	341208	HEPHL1	OMIM:261990
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3741	KCNA5	OMIM:612240
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	84340	GFM2	OMIM:618397
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	51086	TNNI3K	OMIM:616117
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	11149	BVES	OMIM:616812
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7139	TNNT2	OMIM:601494
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	368	ABCC6	OMIM:614473
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	84665	MYPN	ORPHA:171881
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7169	TPM2	ORPHA:171881
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7170	TPM3	ORPHA:171881
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	2548	GAA	OMIM:232300
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	8815	BANF1	OMIM:614008
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7428	VHL	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7428	VHL	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	1743	DLST	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4191	MDH2	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	5979	RET	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	5979	RET	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6389	SDHA	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	23095	KIF1B	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	2271	FH	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	8402	SLC25A11	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	54949	SDHAF2	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	55654	TMEM127	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4763	NF1	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6391	SDHC	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6392	SDHD	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6392	SDHD	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6390	SDHB	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6390	SDHB	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4149	MAX	ORPHA:29072
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4625	MYH7	OMIM:255160
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	1788	DNMT3A	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	2034	EPAS1	ORPHA:276621
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6261	RYR1	ORPHA:466650
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	5830	PEX5	OMIM:616716
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	411	ARSB	OMIM:253200
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10021	HCN4	OMIM:163800
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10021	HCN4	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	23630	KCNE5	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10371	SEMA3A	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	54795	TRPM4	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3764	KCNJ8	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	3752	KCND3	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	5318	PKP2	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	7871	SLMAP	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10060	ABCC9	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	29098	RANGRF	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6336	SCN10A	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10008	KCNE3	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	55800	SCN3B	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10142	AKAP9	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	783	CACNB2	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6337	SCNN1A	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6327	SCN2B	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	781	CACNA2D1	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	775	CACNA1C	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6324	SCN1B	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6331	SCN5A	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6331	SCN5A	ORPHA:1344
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6331	SCN5A	OMIM:608567
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	23171	GPD1L	ORPHA:130
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10681	GNB5	OMIM:617182
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10681	GNB5	OMIM:617173
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10681	GNB5	ORPHA:542306
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4624	MYH6	OMIM:614090
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	151648	SGO1	OMIM:616201
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4878	NPPA	ORPHA:1344
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	6262	RYR2	OMIM:604772
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	845	CASQ2	OMIM:604772
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	10345	TRDN	OMIM:604772
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	4000	LMNA	ORPHA:300751
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	2783	GNB2	OMIM:619464
HP:0011703	Sinus tachycardia	368	ABCC6	OMIM:614473
HP:0011703	Sinus tachycardia	84665	MYPN	ORPHA:171881
HP:0011703	Sinus tachycardia	7169	TPM2	ORPHA:171881
HP:0011703	Sinus tachycardia	7170	TPM3	ORPHA:171881
HP:0011703	Sinus tachycardia	2548	GAA	OMIM:232300
HP:0011703	Sinus tachycardia	8815	BANF1	OMIM:614008
HP:0011703	Sinus tachycardia	7428	VHL	ORPHA:29072
HP:0011703	Sinus tachycardia	7428	VHL	ORPHA:276621
HP:0011703	Sinus tachycardia	1743	DLST	ORPHA:29072
HP:0011703	Sinus tachycardia	4191	MDH2	ORPHA:29072
HP:0011703	Sinus tachycardia	5979	RET	ORPHA:29072
HP:0011703	Sinus tachycardia	5979	RET	ORPHA:276621
HP:0011703	Sinus tachycardia	6389	SDHA	ORPHA:29072
HP:0011703	Sinus tachycardia	23095	KIF1B	ORPHA:29072
HP:0011703	Sinus tachycardia	2271	FH	ORPHA:29072
HP:0011703	Sinus tachycardia	8402	SLC25A11	ORPHA:29072
HP:0011703	Sinus tachycardia	54949	SDHAF2	ORPHA:29072
HP:0011703	Sinus tachycardia	55654	TMEM127	ORPHA:29072
HP:0011703	Sinus tachycardia	4763	NF1	ORPHA:29072
HP:0011703	Sinus tachycardia	6391	SDHC	ORPHA:29072
HP:0011703	Sinus tachycardia	6392	SDHD	ORPHA:29072
HP:0011703	Sinus tachycardia	6392	SDHD	ORPHA:276621
HP:0011703	Sinus tachycardia	6390	SDHB	ORPHA:29072
HP:0011703	Sinus tachycardia	6390	SDHB	ORPHA:276621
HP:0011703	Sinus tachycardia	4149	MAX	ORPHA:29072
HP:0011703	Sinus tachycardia	4625	MYH7	OMIM:255160
HP:0011703	Sinus tachycardia	1788	DNMT3A	ORPHA:276621
HP:0011703	Sinus tachycardia	2034	EPAS1	ORPHA:276621
HP:0011703	Sinus tachycardia	6261	RYR1	ORPHA:466650
HP:0011703	Sinus tachycardia	5830	PEX5	OMIM:616716
HP:0011703	Sinus tachycardia	411	ARSB	OMIM:253200
HP:0011704	Sick sinus syndrome	10021	HCN4	OMIM:163800
HP:0011704	Sick sinus syndrome	10021	HCN4	ORPHA:130
HP:0011704	Sick sinus syndrome	23630	KCNE5	ORPHA:130
HP:0011704	Sick sinus syndrome	10371	SEMA3A	ORPHA:130
HP:0011704	Sick sinus syndrome	54795	TRPM4	ORPHA:130
HP:0011704	Sick sinus syndrome	3764	KCNJ8	ORPHA:130
HP:0011704	Sick sinus syndrome	3752	KCND3	ORPHA:130
HP:0011704	Sick sinus syndrome	5318	PKP2	ORPHA:130
HP:0011704	Sick sinus syndrome	7871	SLMAP	ORPHA:130
HP:0011704	Sick sinus syndrome	10060	ABCC9	ORPHA:130
HP:0011704	Sick sinus syndrome	29098	RANGRF	ORPHA:130
HP:0011704	Sick sinus syndrome	6336	SCN10A	ORPHA:130
HP:0011704	Sick sinus syndrome	10008	KCNE3	ORPHA:130
HP:0011704	Sick sinus syndrome	55800	SCN3B	ORPHA:130
HP:0011704	Sick sinus syndrome	10142	AKAP9	ORPHA:130
HP:0011704	Sick sinus syndrome	783	CACNB2	ORPHA:130
HP:0011704	Sick sinus syndrome	6337	SCNN1A	ORPHA:130
HP:0011704	Sick sinus syndrome	6327	SCN2B	ORPHA:130
HP:0011704	Sick sinus syndrome	781	CACNA2D1	ORPHA:130
HP:0011704	Sick sinus syndrome	775	CACNA1C	ORPHA:130
HP:0011704	Sick sinus syndrome	6324	SCN1B	ORPHA:130
HP:0011704	Sick sinus syndrome	6331	SCN5A	ORPHA:130
HP:0011704	Sick sinus syndrome	6331	SCN5A	ORPHA:1344
HP:0011704	Sick sinus syndrome	6331	SCN5A	OMIM:608567
HP:0011704	Sick sinus syndrome	23171	GPD1L	ORPHA:130
HP:0011704	Sick sinus syndrome	10681	GNB5	OMIM:617182
HP:0011704	Sick sinus syndrome	10681	GNB5	OMIM:617173
HP:0011704	Sick sinus syndrome	10681	GNB5	ORPHA:542306
HP:0011704	Sick sinus syndrome	4624	MYH6	OMIM:614090
HP:0011704	Sick sinus syndrome	151648	SGO1	OMIM:616201
HP:0011704	Sick sinus syndrome	4878	NPPA	ORPHA:1344
HP:0011704	Sick sinus syndrome	6262	RYR2	OMIM:604772
HP:0011704	Sick sinus syndrome	845	CASQ2	OMIM:604772
HP:0011704	Sick sinus syndrome	10345	TRDN	OMIM:604772
HP:0011705	First degree atrioventricular block	4000	LMNA	OMIM:181350
HP:0011705	First degree atrioventricular block	4000	LMNA	OMIM:115200
HP:0011705	First degree atrioventricular block	7092	TLL1	ORPHA:99103
HP:0011705	First degree atrioventricular block	7092	TLL1	ORPHA:99106
HP:0011705	First degree atrioventricular block	57057	TBX20	ORPHA:99103
HP:0011705	First degree atrioventricular block	4624	MYH6	ORPHA:99103
HP:0011705	First degree atrioventricular block	1482	NKX2-5	ORPHA:99103
HP:0011705	First degree atrioventricular block	70	ACTC1	ORPHA:99103
HP:0011705	First degree atrioventricular block	10370	CITED2	ORPHA:99103
HP:0011705	First degree atrioventricular block	10370	CITED2	ORPHA:99105
HP:0011705	First degree atrioventricular block	2626	GATA4	ORPHA:99103
HP:0011705	First degree atrioventricular block	2627	GATA6	ORPHA:99103
HP:0011705	First degree atrioventricular block	2702	GJA5	OMIM:108770
HP:0011705	First degree atrioventricular block	23630	KCNE5	ORPHA:130
HP:0011705	First degree atrioventricular block	10371	SEMA3A	ORPHA:130
HP:0011705	First degree atrioventricular block	54795	TRPM4	ORPHA:130
HP:0011705	First degree atrioventricular block	10021	HCN4	ORPHA:130
HP:0011705	First degree atrioventricular block	3764	KCNJ8	ORPHA:130
HP:0011705	First degree atrioventricular block	3752	KCND3	ORPHA:130
HP:0011705	First degree atrioventricular block	5318	PKP2	ORPHA:130
HP:0011705	First degree atrioventricular block	7871	SLMAP	ORPHA:130
HP:0011705	First degree atrioventricular block	10060	ABCC9	ORPHA:130
HP:0011705	First degree atrioventricular block	29098	RANGRF	ORPHA:130
HP:0011705	First degree atrioventricular block	6336	SCN10A	ORPHA:130
HP:0011705	First degree atrioventricular block	10008	KCNE3	ORPHA:130
HP:0011705	First degree atrioventricular block	55800	SCN3B	ORPHA:130
HP:0011705	First degree atrioventricular block	10142	AKAP9	ORPHA:130
HP:0011705	First degree atrioventricular block	783	CACNB2	ORPHA:130
HP:0011705	First degree atrioventricular block	6337	SCNN1A	ORPHA:130
HP:0011705	First degree atrioventricular block	6327	SCN2B	ORPHA:130
HP:0011705	First degree atrioventricular block	781	CACNA2D1	ORPHA:130
HP:0011705	First degree atrioventricular block	775	CACNA1C	ORPHA:130
HP:0011705	First degree atrioventricular block	6324	SCN1B	ORPHA:130
HP:0011705	First degree atrioventricular block	6331	SCN5A	ORPHA:130
HP:0011705	First degree atrioventricular block	23171	GPD1L	ORPHA:130
HP:0011705	First degree atrioventricular block	23171	GPD1L	OMIM:611777
HP:0011705	First degree atrioventricular block	1837	DTNA	OMIM:604169
HP:0011705	First degree atrioventricular block	4635	MYL4	OMIM:617280
HP:0011705	First degree atrioventricular block	1760	DMPK	ORPHA:589821
HP:0011705	First degree atrioventricular block	1760	DMPK	OMIM:160900
HP:0011705	First degree atrioventricular block	6910	TBX5	ORPHA:392
HP:0011705	First degree atrioventricular block	4607	MYBPC3	OMIM:115197
HP:0011705	First degree atrioventricular block	5663	PSEN1	OMIM:613694
HP:0011705	First degree atrioventricular block	3777	KCNK3	OMIM:615344
HP:0011705	First degree atrioventricular block	5664	PSEN2	OMIM:613697
HP:0011705	First degree atrioventricular block	84665	MYPN	OMIM:617336
HP:0011705	First degree atrioventricular block	29119	CTNNA3	OMIM:615616
HP:0011705	First degree atrioventricular block	2010	EMD	OMIM:310300
HP:0011705	First degree atrioventricular block	83475	DOHH	OMIM:620066
HP:0011706	Second degree atrioventricular block	11149	BVES	OMIM:616812
HP:0011706	Second degree atrioventricular block	7716	VEZF1	OMIM:620247
HP:0011706	Second degree atrioventricular block	23395	LARS2	OMIM:617021
HP:0011706	Second degree atrioventricular block	3920	LAMP2	OMIM:300257
HP:0011706	Second degree atrioventricular block	776	CACNA1D	ORPHA:369929
HP:0011706	Second degree atrioventricular block	776	CACNA1D	OMIM:615474
HP:0011706	Second degree atrioventricular block	8318	CDC45	OMIM:617063
HP:0011706	Second degree atrioventricular block	100134444	KCNJ18	ORPHA:79102
HP:0011706	Second degree atrioventricular block	2556	GABRA3	ORPHA:79102
HP:0011706	Second degree atrioventricular block	779	CACNA1S	ORPHA:79102
HP:0011706	Second degree atrioventricular block	4000	LMNA	OMIM:115200
HP:0011706	Second degree atrioventricular block	808	CALM3	OMIM:618782
HP:0011706	Second degree atrioventricular block	6331	SCN5A	ORPHA:1344
HP:0011706	Second degree atrioventricular block	4878	NPPA	ORPHA:1344
HP:0011706	Second degree atrioventricular block	805	CALM2	OMIM:616249
HP:0011706	Second degree atrioventricular block	801	CALM1	OMIM:616247
HP:0011707	Mobitz I atrioventricular block	6331	SCN5A	ORPHA:1344
HP:0011707	Mobitz I atrioventricular block	4878	NPPA	ORPHA:1344
HP:0011710	Bundle branch block	1482	NKX2-5	ORPHA:871
HP:0011710	Bundle branch block	1482	NKX2-5	ORPHA:99103
HP:0011710	Bundle branch block	1482	NKX2-5	ORPHA:1479
HP:0011710	Bundle branch block	57057	TBX20	ORPHA:99103
HP:0011710	Bundle branch block	2626	GATA4	ORPHA:99103
HP:0011710	Bundle branch block	2627	GATA6	ORPHA:99103
HP:0011710	Bundle branch block	2239	GPC4	ORPHA:373
HP:0011710	Bundle branch block	2719	GPC3	ORPHA:373
HP:0011710	Bundle branch block	1760	DMPK	ORPHA:589821
HP:0011710	Bundle branch block	5781	PTPN11	OMIM:151100
HP:0011710	Bundle branch block	5781	PTPN11	ORPHA:500
HP:0011710	Bundle branch block	2717	GLA	ORPHA:324
HP:0011710	Bundle branch block	673	BRAF	ORPHA:500
HP:0011710	Bundle branch block	5894	RAF1	ORPHA:500
HP:0011710	Bundle branch block	4000	LMNA	OMIM:181350
HP:0011710	Bundle branch block	51086	TNNI3K	OMIM:616117
HP:0011710	Bundle branch block	7134	TNNC1	OMIM:613243
HP:0011710	Bundle branch block	4625	MYH7	ORPHA:437572
HP:0011710	Bundle branch block	2318	FLNC	OMIM:617047
HP:0011710	Bundle branch block	70	ACTC1	OMIM:612098
HP:0011710	Bundle branch block	4607	MYBPC3	OMIM:115197
HP:0011710	Bundle branch block	4624	MYH6	OMIM:613251
HP:0011710	Bundle branch block	4519	MT-CYB	ORPHA:137675
HP:0011710	Bundle branch block	7139	TNNT2	OMIM:115195
HP:0011710	Bundle branch block	5339	PLEC	ORPHA:254361
HP:0011710	Bundle branch block	8291	DYSF	ORPHA:268
HP:0011710	Bundle branch block	128869	PIGU	OMIM:618590
HP:0011710	Bundle branch block	7555	CNBP	OMIM:602668
HP:0011710	Bundle branch block	3728	JUP	OMIM:601214
HP:0011710	Bundle branch block	221496	LEMD2	OMIM:619322
HP:0011710	Bundle branch block	1829	DSG2	OMIM:610193
HP:0011710	Bundle branch block	5500	PPP1CB	OMIM:617506
HP:0011710	Bundle branch block	2992	GYG1	OMIM:613507
HP:0011710	Bundle branch block	2992	GYG1	ORPHA:263297
HP:0011710	Bundle branch block	2273	FHL1	OMIM:300695
HP:0011710	Bundle branch block	56915	EXOSC5	OMIM:619576
HP:0011710	Bundle branch block	442721	LMOD2	OMIM:619897
HP:0011710	Bundle branch block	4878	NPPA	ORPHA:1344
HP:0011710	Bundle branch block	29954	POMT2	OMIM:613158
HP:0011710	Bundle branch block	29954	POMT2	ORPHA:206559
HP:0011710	Bundle branch block	8815	BANF1	OMIM:614008
HP:0011710	Bundle branch block	2771	GNAI2	OMIM:192605
HP:0011710	Bundle branch block	246243	RNASEH1	OMIM:616479
HP:0011710	Bundle branch block	523	ATP6V1A	OMIM:617403
HP:0011710	Bundle branch block	3777	KCNK3	OMIM:615344
HP:0011710	Bundle branch block	529	ATP6V1E1	OMIM:617402
HP:0011710	Bundle branch block	10370	CITED2	ORPHA:99105
HP:0011710	Bundle branch block	7092	TLL1	ORPHA:99106
HP:0011710	Bundle branch block	4633	MYL2	OMIM:608758
HP:0011710	Bundle branch block	51422	PRKAG2	OMIM:600858
HP:0011710	Bundle branch block	5663	PSEN1	OMIM:613694
HP:0011710	Bundle branch block	11232	POLG2	OMIM:610131
HP:0011710	Bundle branch block	5664	PSEN2	OMIM:613697
HP:0011710	Bundle branch block	1000	CDH2	OMIM:618920
HP:0011710	Bundle branch block	29119	CTNNA3	OMIM:615616
HP:0011710	Bundle branch block	11155	LDB3	OMIM:601493
HP:0011710	Bundle branch block	51778	MYOZ2	OMIM:613838
HP:0011710	Bundle branch block	23630	KCNE5	ORPHA:130
HP:0011710	Bundle branch block	10371	SEMA3A	ORPHA:130
HP:0011710	Bundle branch block	54795	TRPM4	ORPHA:130
HP:0011710	Bundle branch block	10021	HCN4	ORPHA:130
HP:0011710	Bundle branch block	3764	KCNJ8	ORPHA:130
HP:0011710	Bundle branch block	3752	KCND3	ORPHA:130
HP:0011710	Bundle branch block	5318	PKP2	ORPHA:130
HP:0011710	Bundle branch block	7871	SLMAP	ORPHA:130
HP:0011710	Bundle branch block	10060	ABCC9	ORPHA:130
HP:0011710	Bundle branch block	29098	RANGRF	ORPHA:130
HP:0011710	Bundle branch block	6336	SCN10A	ORPHA:130
HP:0011710	Bundle branch block	10008	KCNE3	ORPHA:130
HP:0011710	Bundle branch block	55800	SCN3B	ORPHA:130
HP:0011710	Bundle branch block	10142	AKAP9	ORPHA:130
HP:0011710	Bundle branch block	783	CACNB2	ORPHA:130
HP:0011710	Bundle branch block	6337	SCNN1A	ORPHA:130
HP:0011710	Bundle branch block	6327	SCN2B	ORPHA:130
HP:0011710	Bundle branch block	781	CACNA2D1	ORPHA:130
HP:0011710	Bundle branch block	775	CACNA1C	ORPHA:130
HP:0011710	Bundle branch block	6324	SCN1B	ORPHA:130
HP:0011710	Bundle branch block	6331	SCN5A	ORPHA:130
HP:0011710	Bundle branch block	23171	GPD1L	ORPHA:130
HP:0011711	Left anterior fascicular block	4000	LMNA	OMIM:181350
HP:0011711	Left anterior fascicular block	51086	TNNI3K	OMIM:616117
HP:0011711	Left anterior fascicular block	7134	TNNC1	OMIM:613243
HP:0011711	Left anterior fascicular block	54795	TRPM4	OMIM:604559
HP:0011711	Left anterior fascicular block	6331	SCN5A	OMIM:113900
HP:0011711	Left anterior fascicular block	4625	MYH7	ORPHA:437572
HP:0011711	Left anterior fascicular block	2318	FLNC	OMIM:617047
HP:0011711	Left anterior fascicular block	70	ACTC1	OMIM:612098
HP:0011712	Right bundle branch block	6331	SCN5A	OMIM:601144
HP:0011712	Right bundle branch block	6331	SCN5A	ORPHA:130
HP:0011712	Right bundle branch block	6331	SCN5A	ORPHA:1344
HP:0011712	Right bundle branch block	6331	SCN5A	OMIM:601154
HP:0011712	Right bundle branch block	6331	SCN5A	OMIM:113900
HP:0011712	Right bundle branch block	4607	MYBPC3	OMIM:115197
HP:0011712	Right bundle branch block	4624	MYH6	OMIM:613251
HP:0011712	Right bundle branch block	4519	MT-CYB	ORPHA:137675
HP:0011712	Right bundle branch block	4625	MYH7	ORPHA:1880
HP:0011712	Right bundle branch block	4625	MYH7	OMIM:255160
HP:0011712	Right bundle branch block	7139	TNNT2	OMIM:115195
HP:0011712	Right bundle branch block	5339	PLEC	ORPHA:254361
HP:0011712	Right bundle branch block	8291	DYSF	ORPHA:268
HP:0011712	Right bundle branch block	128869	PIGU	OMIM:618590
HP:0011712	Right bundle branch block	7555	CNBP	OMIM:602668
HP:0011712	Right bundle branch block	3728	JUP	OMIM:601214
HP:0011712	Right bundle branch block	221496	LEMD2	OMIM:619322
HP:0011712	Right bundle branch block	1829	DSG2	OMIM:610193
HP:0011712	Right bundle branch block	70	ACTC1	OMIM:612098
HP:0011712	Right bundle branch block	5500	PPP1CB	OMIM:617506
HP:0011712	Right bundle branch block	2992	GYG1	OMIM:613507
HP:0011712	Right bundle branch block	2992	GYG1	ORPHA:263297
HP:0011712	Right bundle branch block	54795	TRPM4	OMIM:604559
HP:0011712	Right bundle branch block	54795	TRPM4	ORPHA:130
HP:0011712	Right bundle branch block	23630	KCNE5	ORPHA:130
HP:0011712	Right bundle branch block	10371	SEMA3A	ORPHA:130
HP:0011712	Right bundle branch block	10021	HCN4	ORPHA:130
HP:0011712	Right bundle branch block	10021	HCN4	OMIM:613123
HP:0011712	Right bundle branch block	3764	KCNJ8	ORPHA:130
HP:0011712	Right bundle branch block	3752	KCND3	ORPHA:130
HP:0011712	Right bundle branch block	5318	PKP2	ORPHA:130
HP:0011712	Right bundle branch block	7871	SLMAP	ORPHA:130
HP:0011712	Right bundle branch block	10060	ABCC9	ORPHA:130
HP:0011712	Right bundle branch block	29098	RANGRF	ORPHA:130
HP:0011712	Right bundle branch block	6336	SCN10A	ORPHA:130
HP:0011712	Right bundle branch block	10008	KCNE3	ORPHA:130
HP:0011712	Right bundle branch block	55800	SCN3B	ORPHA:130
HP:0011712	Right bundle branch block	10142	AKAP9	ORPHA:130
HP:0011712	Right bundle branch block	783	CACNB2	ORPHA:130
HP:0011712	Right bundle branch block	6337	SCNN1A	ORPHA:130
HP:0011712	Right bundle branch block	6327	SCN2B	ORPHA:130
HP:0011712	Right bundle branch block	781	CACNA2D1	ORPHA:130
HP:0011712	Right bundle branch block	775	CACNA1C	ORPHA:130
HP:0011712	Right bundle branch block	6324	SCN1B	ORPHA:130
HP:0011712	Right bundle branch block	23171	GPD1L	ORPHA:130
HP:0011712	Right bundle branch block	23171	GPD1L	OMIM:611777
HP:0011712	Right bundle branch block	2273	FHL1	OMIM:300695
HP:0011712	Right bundle branch block	56915	EXOSC5	OMIM:619576
HP:0011712	Right bundle branch block	442721	LMOD2	OMIM:619897
HP:0011712	Right bundle branch block	4878	NPPA	ORPHA:1344
HP:0011712	Right bundle branch block	29954	POMT2	OMIM:613158
HP:0011712	Right bundle branch block	29954	POMT2	ORPHA:206559
HP:0011712	Right bundle branch block	8815	BANF1	OMIM:614008
HP:0011712	Right bundle branch block	2771	GNAI2	OMIM:192605
HP:0011712	Right bundle branch block	51086	TNNI3K	OMIM:616117
HP:0011712	Right bundle branch block	246243	RNASEH1	OMIM:616479
HP:0011712	Right bundle branch block	7134	TNNC1	OMIM:613243
HP:0011712	Right bundle branch block	523	ATP6V1A	OMIM:617403
HP:0011712	Right bundle branch block	3777	KCNK3	OMIM:615344
HP:0011712	Right bundle branch block	529	ATP6V1E1	OMIM:617402
HP:0011712	Right bundle branch block	10370	CITED2	ORPHA:99105
HP:0011712	Right bundle branch block	7092	TLL1	ORPHA:99106
HP:0011713	Left bundle branch block	4000	LMNA	OMIM:181350
HP:0011713	Left bundle branch block	51086	TNNI3K	OMIM:616117
HP:0011713	Left bundle branch block	7134	TNNC1	OMIM:613243
HP:0011713	Left bundle branch block	54795	TRPM4	OMIM:604559
HP:0011713	Left bundle branch block	6331	SCN5A	OMIM:113900
HP:0011713	Left bundle branch block	4625	MYH7	ORPHA:437572
HP:0011713	Left bundle branch block	2318	FLNC	OMIM:617047
HP:0011713	Left bundle branch block	70	ACTC1	OMIM:612098
HP:0011713	Left bundle branch block	4633	MYL2	OMIM:608758
HP:0011713	Left bundle branch block	4607	MYBPC3	OMIM:115197
HP:0011713	Left bundle branch block	51422	PRKAG2	OMIM:600858
HP:0011713	Left bundle branch block	5663	PSEN1	OMIM:613694
HP:0011713	Left bundle branch block	11232	POLG2	OMIM:610131
HP:0011713	Left bundle branch block	5664	PSEN2	OMIM:613697
HP:0011713	Left bundle branch block	1000	CDH2	OMIM:618920
HP:0011713	Left bundle branch block	1829	DSG2	OMIM:612877
HP:0011713	Left bundle branch block	29119	CTNNA3	OMIM:615616
HP:0011713	Left bundle branch block	11155	LDB3	OMIM:601493
HP:0011713	Left bundle branch block	51778	MYOZ2	OMIM:613838
HP:0011715	Trifascicular block	23630	KCNE5	ORPHA:130
HP:0011715	Trifascicular block	10371	SEMA3A	ORPHA:130
HP:0011715	Trifascicular block	54795	TRPM4	ORPHA:130
HP:0011715	Trifascicular block	10021	HCN4	ORPHA:130
HP:0011715	Trifascicular block	3764	KCNJ8	ORPHA:130
HP:0011715	Trifascicular block	3752	KCND3	ORPHA:130
HP:0011715	Trifascicular block	5318	PKP2	ORPHA:130
HP:0011715	Trifascicular block	7871	SLMAP	ORPHA:130
HP:0011715	Trifascicular block	10060	ABCC9	ORPHA:130
HP:0011715	Trifascicular block	29098	RANGRF	ORPHA:130
HP:0011715	Trifascicular block	6336	SCN10A	ORPHA:130
HP:0011715	Trifascicular block	10008	KCNE3	ORPHA:130
HP:0011715	Trifascicular block	55800	SCN3B	ORPHA:130
HP:0011715	Trifascicular block	10142	AKAP9	ORPHA:130
HP:0011715	Trifascicular block	783	CACNB2	ORPHA:130
HP:0011715	Trifascicular block	6337	SCNN1A	ORPHA:130
HP:0011715	Trifascicular block	6327	SCN2B	ORPHA:130
HP:0011715	Trifascicular block	781	CACNA2D1	ORPHA:130
HP:0011715	Trifascicular block	775	CACNA1C	ORPHA:130
HP:0011715	Trifascicular block	6324	SCN1B	ORPHA:130
HP:0011715	Trifascicular block	6331	SCN5A	ORPHA:130
HP:0011715	Trifascicular block	23171	GPD1L	ORPHA:130
HP:0011716	Junctional ectopic tachycardia	4519	MT-CYB	ORPHA:137675
HP:0011716	Junctional ectopic tachycardia	1349	COX7B	OMIM:309801
HP:0011716	Junctional ectopic tachycardia	3052	HCCS	OMIM:309801
HP:0011716	Junctional ectopic tachycardia	54539	NDUFB11	OMIM:309801
HP:0011716	Junctional ectopic tachycardia	10370	CITED2	ORPHA:99105
HP:0011717	Atrioventricular reentrant tachycardia	7273	TTN	OMIM:611705
HP:0011718	Abnormality of the pulmonary veins	7547	ZIC3	OMIM:306955
HP:0011718	Abnormality of the pulmonary veins	6210	RPS15A	OMIM:618313
HP:0011718	Abnormality of the pulmonary veins	123606	NIPA1	ORPHA:261183
HP:0011718	Abnormality of the pulmonary veins	7283	TUBG1	ORPHA:261183
HP:0011718	Abnormality of the pulmonary veins	81614	NIPA2	ORPHA:261183
HP:0011718	Abnormality of the pulmonary veins	998	CDC42	ORPHA:487796
HP:0011718	Abnormality of the pulmonary veins	93	ACVR2B	OMIM:613751
HP:0011718	Abnormality of the pulmonary veins	220136	CFAP53	OMIM:614779
HP:0011718	Abnormality of the pulmonary veins	2719	GPC3	OMIM:312870
HP:0011718	Abnormality of the pulmonary veins	2239	GPC4	OMIM:312870
HP:0011718	Abnormality of the pulmonary veins	118856	MMP21	OMIM:616749
HP:0011718	Abnormality of the pulmonary veins	10491	CRTAP	OMIM:610682
HP:0011718	Abnormality of the pulmonary veins	2657	GDF1	OMIM:613854
HP:0011718	Abnormality of the pulmonary veins	340419	RSPO2	OMIM:618021
HP:0011718	Abnormality of the pulmonary veins	659	BMPR2	OMIM:265450
HP:0011718	Abnormality of the pulmonary veins	440275	EIF2AK4	OMIM:234810
HP:0011718	Abnormality of the pulmonary veins	25981	DNAH1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	115948	ODAD3	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	54768	HYDIN	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	352909	DNAAF3	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	27148	STK36	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	51314	NME8	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	92749	DRC1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	54970	TTC12	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	152110	NEK10	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	8481	OFD1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	2302	FOXJ1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	221421	RSPH9	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	85478	CCDC65	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	55036	CCDC40	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	51364	ZMYND10	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	64446	DNAI2	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	6674	SPAG1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	83544	DNAL1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	89765	RSPH1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	83538	ODAD4	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	200373	CFAP221	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	374407	DNAJB13	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	55172	DNAAF2	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	161582	DNAAF4	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	2622	GAS8	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	23639	DNAAF11	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	27019	DNAI1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	345895	RSPH4A	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	54919	DNAAF5	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	6103	RPGR	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	388389	CCDC103	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	93233	ODAD1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	55130	ODAD2	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	1767	DNAH5	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	83861	RSPH3	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	345643	MCIDAS	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	56683	CFAP298	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	79925	SPEF2	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	10309	CCNO	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	115399	LRRC56	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	139212	DNAAF6	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	123872	DNAAF1	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	85016	CFAP300	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	339829	CCDC39	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	8701	DNAH11	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	1770	DNAH9	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	246176	GAS2L2	ORPHA:244
HP:0011718	Abnormality of the pulmonary veins	1718	DHCR24	ORPHA:35107
HP:0011718	Abnormality of the pulmonary veins	6910	TBX5	ORPHA:392
HP:0011718	Abnormality of the pulmonary veins	10370	CITED2	OMIM:614433
HP:0011718	Abnormality of the pulmonary veins	10370	CITED2	ORPHA:99105
HP:0011718	Abnormality of the pulmonary veins	27125	AFF4	OMIM:616368
HP:0011718	Abnormality of the pulmonary veins	134701	RIPPLY2	ORPHA:2311
HP:0011718	Abnormality of the pulmonary veins	10683	DLL3	ORPHA:2311
HP:0011718	Abnormality of the pulmonary veins	3955	LFNG	ORPHA:2311
HP:0011718	Abnormality of the pulmonary veins	84667	HES7	ORPHA:2311
HP:0011718	Abnormality of the pulmonary veins	145873	MESP2	ORPHA:2311
HP:0011718	Abnormality of the pulmonary veins	745	MYRF	OMIM:618280
HP:0011718	Abnormality of the pulmonary veins	9968	MED12	OMIM:301068
HP:0011718	Abnormality of the pulmonary veins	2294	FOXF1	OMIM:265380
HP:0011718	Abnormality of the pulmonary veins	7490	WT1	OMIM:608978
HP:0011718	Abnormality of the pulmonary veins	8243	SMC1A	OMIM:301044
HP:0011718	Abnormality of the pulmonary veins	2623	GATA1	OMIM:190685
HP:0011718	Abnormality of the pulmonary veins	54916	TMEM260	OMIM:617478
HP:0011718	Abnormality of the pulmonary veins	4087	SMAD2	OMIM:619657
HP:0011718	Abnormality of the pulmonary veins	100128908	CIROP	OMIM:619702
HP:0011718	Abnormality of the pulmonary veins	4838	NODAL	OMIM:270100
HP:0011718	Abnormality of the pulmonary veins	145173	B3GLCT	ORPHA:709
HP:0011718	Abnormality of the pulmonary veins	6439	SFTPB	OMIM:265120
HP:0001501	6 metacarpals	64327	LMBR1	ORPHA:93405
HP:0001501	6 metacarpals	64327	LMBR1	OMIM:186200
HP:0001501	6 metacarpals	6469	SHH	ORPHA:93405
HP:0001501	6 metacarpals	3239	HOXD13	OMIM:186000
HP:0001504	Metacarpal osteolysis	9935	MAFB	OMIM:166300
HP:0001504	Metacarpal osteolysis	9935	MAFB	ORPHA:2774
HP:0001504	Metacarpal osteolysis	4313	MMP2	OMIM:259600
HP:0001507	Growth abnormality	91147	TMEM67	ORPHA:140976
HP:0001507	Growth abnormality	81848	SPRY4	ORPHA:432
HP:0001507	Growth abnormality	128674	PROKR2	ORPHA:432
HP:0001507	Growth abnormality	2253	FGF8	ORPHA:432
HP:0001507	Growth abnormality	60675	PROK2	ORPHA:432
HP:0001507	Growth abnormality	55636	CHD7	ORPHA:432
HP:0001507	Growth abnormality	6870	TACR3	ORPHA:432
HP:0001507	Growth abnormality	1848	DUSP6	ORPHA:432
HP:0001507	Growth abnormality	26012	NSMF	ORPHA:432
HP:0001507	Growth abnormality	55717	WDR11	ORPHA:432
HP:0001507	Growth abnormality	9394	HS6ST1	ORPHA:432
HP:0001507	Growth abnormality	2796	GNRH1	ORPHA:432
HP:0001507	Growth abnormality	2798	GNRHR	ORPHA:432
HP:0001507	Growth abnormality	84634	KISS1R	ORPHA:432
HP:0001507	Growth abnormality	6866	TAC3	ORPHA:432
HP:0001507	Growth abnormality	8822	FGF17	ORPHA:432
HP:0001507	Growth abnormality	3814	KISS1	ORPHA:432
HP:0001507	Growth abnormality	9241	NOG	OMIM:186570
HP:0001507	Growth abnormality	4041	LRP5	OMIM:144750
HP:0001507	Growth abnormality	8925	HERC1	OMIM:617011
HP:0001507	Growth abnormality	595	CCND1	ORPHA:29073
HP:0001507	Growth abnormality	4158	MC2R	OMIM:202200
HP:0001507	Growth abnormality	4158	MC2R	ORPHA:361
HP:0001507	Growth abnormality	65109	UPF3B	OMIM:300676
HP:0001507	Growth abnormality	5351	PLOD1	OMIM:225400
HP:0001507	Growth abnormality	23512	SUZ12	OMIM:618786
HP:0001507	Growth abnormality	23512	SUZ12	ORPHA:3447
HP:0001507	Growth abnormality	26580	BSCL2	OMIM:269700
HP:0001507	Growth abnormality	57680	CHD8	OMIM:615032
HP:0001507	Growth abnormality	5048	PAFAH1B1	ORPHA:217385
HP:0001507	Growth abnormality	7531	YWHAE	ORPHA:217385
HP:0001507	Growth abnormality	79912	PYROXD1	OMIM:617258
HP:0001507	Growth abnormality	84282	RNF135	ORPHA:137634
HP:0001507	Growth abnormality	85358	SHANK3	OMIM:606232
HP:0001507	Growth abnormality	10297	APC2	ORPHA:821
HP:0001507	Growth abnormality	2099	ESR1	ORPHA:785
HP:0001507	Growth abnormality	6942	TCF20	OMIM:618430
HP:0001507	Growth abnormality	9158	FIBP	OMIM:617107
HP:0001507	Growth abnormality	129563	DIS3L2	ORPHA:2849
HP:0001507	Growth abnormality	2719	GPC3	ORPHA:373
HP:0001507	Growth abnormality	2719	GPC3	OMIM:312870
HP:0001507	Growth abnormality	4160	MC4R	OMIM:618406
HP:0001507	Growth abnormality	55109	AGGF1	ORPHA:90308
HP:0001507	Growth abnormality	875	CBS	OMIM:236200
HP:0001507	Growth abnormality	3973	LHCGR	ORPHA:3000
HP:0001507	Growth abnormality	83550	GPR101	ORPHA:963
HP:0001507	Growth abnormality	83550	GPR101	OMIM:300942
HP:0001507	Growth abnormality	2248	FGF3	ORPHA:90024
HP:0001507	Growth abnormality	10555	AGPAT2	OMIM:608594
HP:0001507	Growth abnormality	8726	EED	ORPHA:3447
HP:0001507	Growth abnormality	8726	EED	OMIM:617561
HP:0001507	Growth abnormality	2146	EZH2	ORPHA:3447
HP:0001507	Growth abnormality	56246	MRAP	ORPHA:361
HP:0001507	Growth abnormality	6770	STAR	ORPHA:361
HP:0001507	Growth abnormality	23530	NNT	ORPHA:361
HP:0001507	Growth abnormality	10587	TXNRD2	ORPHA:361
HP:0001507	Growth abnormality	4038	LRP4	ORPHA:3152
HP:0001507	Growth abnormality	5159	PDGFRB	OMIM:616592
HP:0001507	Growth abnormality	4883	NPR3	OMIM:619543
HP:0001507	Growth abnormality	18	ABAT	OMIM:613163
HP:0001507	Growth abnormality	7046	TGFBR1	ORPHA:60030
HP:0001507	Growth abnormality	7046	TGFBR1	ORPHA:91387
HP:0001507	Growth abnormality	7048	TGFBR2	ORPHA:60030
HP:0001507	Growth abnormality	7048	TGFBR2	ORPHA:91387
HP:0001507	Growth abnormality	7042	TGFB2	OMIM:614816
HP:0001507	Growth abnormality	7042	TGFB2	ORPHA:91387
HP:0001507	Growth abnormality	9487	PIGL	ORPHA:3474
HP:0001507	Growth abnormality	367	AR	ORPHA:99429
HP:0001507	Growth abnormality	4629	MYH11	ORPHA:91387
HP:0001507	Growth abnormality	4015	LOX	ORPHA:91387
HP:0001507	Growth abnormality	4088	SMAD3	ORPHA:91387
HP:0001507	Growth abnormality	59	ACTA2	ORPHA:91387
HP:0001507	Growth abnormality	5592	PRKG1	ORPHA:91387
HP:0001507	Growth abnormality	2301	FOXE3	ORPHA:91387
HP:0001507	Growth abnormality	4144	MAT2A	ORPHA:91387
HP:0001507	Growth abnormality	23493	HEY2	ORPHA:91387
HP:0001507	Growth abnormality	8076	MFAP5	ORPHA:91387
HP:0001507	Growth abnormality	4638	MYLK	ORPHA:91387
HP:0001507	Growth abnormality	6938	TCF12	OMIM:619718
HP:0001507	Growth abnormality	4312	MMP1	ORPHA:79408
HP:0001507	Growth abnormality	1363	CPE	OMIM:619326
HP:0001507	Growth abnormality	55366	LGR4	OMIM:619613
HP:0001507	Growth abnormality	6845	VAMP7	ORPHA:251510
HP:0001507	Growth abnormality	4214	MAP3K1	ORPHA:251510
HP:0001507	Growth abnormality	58524	DMRT3	ORPHA:251510
HP:0001507	Growth abnormality	57647	DHX37	ORPHA:251510
HP:0001507	Growth abnormality	23414	ZFPM2	ORPHA:251510
HP:0001507	Growth abnormality	374393	FAM111B	OMIM:615704
HP:0001507	Growth abnormality	953	ENTPD1	ORPHA:401810
HP:0001507	Growth abnormality	953	ENTPD1	OMIM:615683
HP:0001507	Growth abnormality	23767	FLRT3	OMIM:615271
HP:0001507	Growth abnormality	23767	FLRT3	ORPHA:478
HP:0001507	Growth abnormality	493856	CISD2	ORPHA:3463
HP:0001507	Growth abnormality	80067	DCAF17	ORPHA:3464
HP:0001507	Growth abnormality	60529	ALX4	ORPHA:52022
HP:0001507	Growth abnormality	51317	PHF21A	ORPHA:52022
HP:0001507	Growth abnormality	55210	ATAD3A	ORPHA:496790
HP:0001507	Growth abnormality	3972	LHB	OMIM:228300
HP:0001507	Growth abnormality	79983	POF1B	OMIM:300604
HP:0001507	Growth abnormality	59336	PRDM13	OMIM:619761
HP:0001507	Growth abnormality	10371	SEMA3A	ORPHA:478
HP:0001507	Growth abnormality	79625	NDNF	ORPHA:478
HP:0001507	Growth abnormality	389549	FEZF1	ORPHA:478
HP:0001507	Growth abnormality	1630	DCC	ORPHA:478
HP:0001507	Growth abnormality	54756	IL17RD	ORPHA:478
HP:0001507	Growth abnormality	6663	SOX10	ORPHA:478
HP:0001507	Growth abnormality	285025	CCDC141	ORPHA:478
HP:0001507	Growth abnormality	950	SCARB2	ORPHA:77259
HP:0001507	Growth abnormality	3170	FOXA2	ORPHA:95494
HP:0001507	Growth abnormality	4511	MT-TC	OMIM:540000
HP:0001507	Growth abnormality	1589	CYP21A2	OMIM:201910
HP:0001507	Growth abnormality	6448	SGSH	OMIM:252900
HP:0001507	Growth abnormality	1629	DBT	OMIM:248600
HP:0001507	Growth abnormality	593	BCKDHA	OMIM:248600
HP:0001507	Growth abnormality	594	BCKDHB	OMIM:248600
HP:0001507	Growth abnormality	10020	GNE	OMIM:269921
HP:0001507	Growth abnormality	3081	HGD	OMIM:203500
HP:0001507	Growth abnormality	138050	HGSNAT	OMIM:252930
HP:0001507	Growth abnormality	3709	ITPR2	OMIM:106190
HP:0001507	Growth abnormality	343637	RSPO4	OMIM:206800
HP:0001507	Growth abnormality	1991	ELANE	OMIM:202700
HP:0001507	Growth abnormality	4524	MTHFR	ORPHA:395
HP:0001507	Growth abnormality	6555	SLC10A2	OMIM:613291
HP:0001507	Growth abnormality	26235	FBXL4	OMIM:615471
HP:0001507	Growth abnormality	5913	RAPSN	OMIM:616326
HP:0001507	Growth abnormality	84334	COA8	ORPHA:436271
HP:0001507	Growth abnormality	1131	CHRM3	ORPHA:2970
HP:0001507	Growth abnormality	51	ACOX1	ORPHA:2971
HP:0001507	Growth abnormality	3909	LAMA3	ORPHA:79404
HP:0001507	Growth abnormality	3909	LAMA3	OMIM:226700
HP:0001507	Growth abnormality	3918	LAMC2	ORPHA:79404
HP:0001507	Growth abnormality	3918	LAMC2	OMIM:226700
HP:0001507	Growth abnormality	3914	LAMB3	ORPHA:79404
HP:0001507	Growth abnormality	3914	LAMB3	OMIM:226700
HP:0001507	Growth abnormality	80816	ASXL3	OMIM:615485
HP:0001507	Growth abnormality	4141	MARS1	OMIM:615486
HP:0001507	Growth abnormality	5651	TMPRSS15	OMIM:226200
HP:0001507	Growth abnormality	27245	AHDC1	ORPHA:412069
HP:0001507	Growth abnormality	27245	AHDC1	OMIM:615829
HP:0001507	Growth abnormality	5184	PEPD	OMIM:170100
HP:0001507	Growth abnormality	84466	MEGF10	OMIM:614399
HP:0001507	Growth abnormality	10686	CLDN16	OMIM:248250
HP:0001507	Growth abnormality	3508	IGHMBP2	OMIM:604320
HP:0001507	Growth abnormality	2212	FCGR2A	OMIM:219700
HP:0001507	Growth abnormality	1777	DNASE2	OMIM:619858
HP:0001507	Growth abnormality	1716	DGUOK	OMIM:251880
HP:0001507	Growth abnormality	23327	NEDD4L	OMIM:617201
HP:0001507	Growth abnormality	10125	RASGRP1	OMIM:618534
HP:0001507	Growth abnormality	10716	TBR1	ORPHA:1617
HP:0001507	Growth abnormality	5373	PMM2	OMIM:212065
HP:0001507	Growth abnormality	5373	PMM2	ORPHA:79318
HP:0001507	Growth abnormality	5994	RFXAP	OMIM:209920
HP:0001507	Growth abnormality	5994	RFXAP	ORPHA:572
HP:0001507	Growth abnormality	5993	RFX5	OMIM:209920
HP:0001507	Growth abnormality	5993	RFX5	ORPHA:572
HP:0001507	Growth abnormality	8625	RFXANK	OMIM:209920
HP:0001507	Growth abnormality	8625	RFXANK	ORPHA:572
HP:0001507	Growth abnormality	51692	CPSF3	OMIM:619876
HP:0001507	Growth abnormality	3507	IGHM	OMIM:601495
HP:0001507	Growth abnormality	3507	IGHM	ORPHA:33110
HP:0001507	Growth abnormality	57169	ZNFX1	OMIM:619644
HP:0001507	Growth abnormality	2232	FDXR	ORPHA:543470
HP:0001507	Growth abnormality	11311	VPS45	OMIM:615285
HP:0001507	Growth abnormality	4285	MIPEP	OMIM:617228
HP:0001507	Growth abnormality	6901	TAFAZZIN	OMIM:302060
HP:0001507	Growth abnormality	90	ACVR1	ORPHA:337
HP:0001507	Growth abnormality	4351	MPI	OMIM:602579
HP:0001507	Growth abnormality	4351	MPI	ORPHA:79319
HP:0001507	Growth abnormality	6603	SMARCD2	OMIM:617475
HP:0001507	Growth abnormality	111	ADCY5	OMIM:619651
HP:0001507	Growth abnormality	125988	MICOS13	OMIM:618329
HP:0001507	Growth abnormality	2184	FAH	OMIM:276700
HP:0001507	Growth abnormality	27429	HTRA2	OMIM:617248
HP:0001507	Growth abnormality	6559	SLC12A3	ORPHA:358
HP:0001507	Growth abnormality	6559	SLC12A3	OMIM:263800
HP:0001507	Growth abnormality	291	SLC25A4	ORPHA:254892
HP:0001507	Growth abnormality	11232	POLG2	ORPHA:254892
HP:0001507	Growth abnormality	11232	POLG2	OMIM:610131
HP:0001507	Growth abnormality	9488	PIGB	OMIM:618580
HP:0001507	Growth abnormality	10564	ARFGEF2	OMIM:608097
HP:0001507	Growth abnormality	9526	MPDU1	OMIM:609180
HP:0001507	Growth abnormality	8737	RIPK1	OMIM:618108
HP:0001507	Growth abnormality	959	CD40LG	OMIM:308230
HP:0001507	Growth abnormality	29887	SNX10	OMIM:615085
HP:0001507	Growth abnormality	23114	NFASC	OMIM:618356
HP:0001507	Growth abnormality	112939	NACC1	ORPHA:500545
HP:0001507	Growth abnormality	112939	NACC1	OMIM:617393
HP:0001507	Growth abnormality	3861	KRT14	ORPHA:89838
HP:0001507	Growth abnormality	3861	KRT14	ORPHA:79396
HP:0001507	Growth abnormality	537	ATP6AP1	OMIM:300972
HP:0001507	Growth abnormality	7922	SLC39A7	OMIM:619693
HP:0001507	Growth abnormality	2019	EN1	OMIM:619218
HP:0001507	Growth abnormality	549	AUH	OMIM:250950
HP:0001507	Growth abnormality	549	AUH	ORPHA:67046
HP:0001507	Growth abnormality	4547	MTTP	ORPHA:14
HP:0001507	Growth abnormality	6045	RNF2	OMIM:619460
HP:0001507	Growth abnormality	51102	MECR	OMIM:617282
HP:0001507	Growth abnormality	51102	MECR	ORPHA:508093
HP:0001507	Growth abnormality	63931	MRPS14	OMIM:618378
HP:0001507	Growth abnormality	11342	RNF13	OMIM:618379
HP:0001507	Growth abnormality	11342	RNF13	ORPHA:544503
HP:0001507	Growth abnormality	127833	SYT2	OMIM:619461
HP:0001507	Growth abnormality	8802	SUCLG1	ORPHA:17
HP:0001507	Growth abnormality	8802	SUCLG1	OMIM:245400
HP:0001507	Growth abnormality	84705	GTPBP3	OMIM:616198
HP:0001507	Growth abnormality	84705	GTPBP3	ORPHA:444013
HP:0001507	Growth abnormality	9971	NR1H4	OMIM:617049
HP:0001507	Growth abnormality	4548	MTR	OMIM:250940
HP:0001507	Growth abnormality	8452	CUL3	OMIM:619239
HP:0001507	Growth abnormality	162417	NAGS	OMIM:237310
HP:0001507	Growth abnormality	162417	NAGS	ORPHA:927
HP:0001507	Growth abnormality	1457	CSNK2A1	OMIM:617062
HP:0001507	Growth abnormality	200931	SLC51A	OMIM:619484
HP:0001507	Growth abnormality	9373	PLAA	ORPHA:521426
HP:0001507	Growth abnormality	9373	PLAA	OMIM:617527
HP:0001507	Growth abnormality	57038	RARS2	OMIM:611523
HP:0001507	Growth abnormality	10551	AGR2	OMIM:620233
HP:0001507	Growth abnormality	3516	RBPJ	ORPHA:974
HP:0001507	Growth abnormality	4851	NOTCH1	ORPHA:974
HP:0001507	Growth abnormality	57514	ARHGAP31	ORPHA:974
HP:0001507	Growth abnormality	57572	DOCK6	ORPHA:974
HP:0001507	Growth abnormality	285203	EOGT	ORPHA:974
HP:0001507	Growth abnormality	54567	DLL4	ORPHA:974
HP:0001507	Growth abnormality	60386	SLC25A19	OMIM:607196
HP:0001507	Growth abnormality	201595	STT3B	ORPHA:370924
HP:0001507	Growth abnormality	201595	STT3B	OMIM:615597
HP:0001507	Growth abnormality	6748	SSR4	ORPHA:370927
HP:0001507	Growth abnormality	6748	SSR4	OMIM:300934
HP:0001507	Growth abnormality	7482	WNT2B	OMIM:618168
HP:0001507	Growth abnormality	63899	NSUN3	OMIM:619012
HP:0001507	Growth abnormality	84081	NSRP1	OMIM:620001
HP:0001507	Growth abnormality	2801	GOLGA2	OMIM:620240
HP:0001507	Growth abnormality	50617	ATP6V0A4	OMIM:602722
HP:0001507	Growth abnormality	1373	CPS1	OMIM:237300
HP:0001507	Growth abnormality	6309	SC5D	ORPHA:46059
HP:0001507	Growth abnormality	5393	EXOSC9	OMIM:618065
HP:0001507	Growth abnormality	5393	EXOSC9	ORPHA:2254
HP:0001507	Growth abnormality	5009	OTC	OMIM:311250
HP:0001507	Growth abnormality	25821	MTO1	OMIM:614702
HP:0001507	Growth abnormality	987	LRBA	OMIM:614700
HP:0001507	Growth abnormality	80232	WDR26	ORPHA:513456
HP:0001507	Growth abnormality	63916	ELMO2	ORPHA:3019
HP:0001507	Growth abnormality	55780	ERMARD	ORPHA:75857
HP:0001507	Growth abnormality	429	ASCL1	ORPHA:99803
HP:0001507	Growth abnormality	8929	PHOX2B	ORPHA:99803
HP:0001507	Growth abnormality	3242	HPD	OMIM:140350
HP:0001507	Growth abnormality	3242	HPD	ORPHA:2118
HP:0001507	Growth abnormality	771	CA12	OMIM:143860
HP:0001507	Growth abnormality	6439	SFTPB	OMIM:265120
HP:0001507	Growth abnormality	87178	PNPT1	ORPHA:319514
HP:0001507	Growth abnormality	1738	DLD	ORPHA:2394
HP:0001507	Growth abnormality	92579	G6PC3	OMIM:612541
HP:0001507	Growth abnormality	50674	NEUROG3	OMIM:610370
HP:0001507	Growth abnormality	84300	UQCC2	OMIM:615824
HP:0001507	Growth abnormality	113235	SLC46A1	OMIM:229050
HP:0001507	Growth abnormality	113235	SLC46A1	ORPHA:90045
HP:0001507	Growth abnormality	63894	VIPAS39	OMIM:613404
HP:0001507	Growth abnormality	79053	ALG8	OMIM:608104
HP:0001507	Growth abnormality	79053	ALG8	ORPHA:79325
HP:0001507	Growth abnormality	84947	SERAC1	OMIM:614739
HP:0001507	Growth abnormality	1798	DPAGT1	ORPHA:86309
HP:0001507	Growth abnormality	4519	MT-CYB	ORPHA:137675
HP:0001507	Growth abnormality	6507	SLC1A3	ORPHA:2131
HP:0001507	Growth abnormality	90624	LYRM7	OMIM:615838
HP:0001507	Growth abnormality	79759	ZNF668	OMIM:620194
HP:0001507	Growth abnormality	1303	COL12A1	ORPHA:536516
HP:0001507	Growth abnormality	182	JAG1	OMIM:118450
HP:0001507	Growth abnormality	9440	MED17	OMIM:613668
HP:0001507	Growth abnormality	917	CD3G	OMIM:615607
HP:0001507	Growth abnormality	51128	SAR1B	ORPHA:71
HP:0001507	Growth abnormality	51128	SAR1B	OMIM:246700
HP:0001507	Growth abnormality	8813	DPM1	OMIM:608799
HP:0001507	Growth abnormality	8813	DPM1	ORPHA:79322
HP:0001507	Growth abnormality	445	ASS1	OMIM:215700
HP:0001507	Growth abnormality	6314	ATXN7	ORPHA:94147
HP:0001507	Growth abnormality	8694	DGAT1	OMIM:615863
HP:0001507	Growth abnormality	132	ADK	OMIM:614300
HP:0001507	Growth abnormality	6948	TCN2	OMIM:275350
HP:0001507	Growth abnormality	1806	DPYD	OMIM:274270
HP:0001507	Growth abnormality	54931	TRMT10C	OMIM:616974
HP:0001507	Growth abnormality	4792	NFKBIA	OMIM:612132
HP:0001507	Growth abnormality	2782	GNB1	OMIM:616973
HP:0001507	Growth abnormality	2782	GNB1	ORPHA:488613
HP:0001507	Growth abnormality	117581	TWIST2	ORPHA:1231
HP:0001507	Growth abnormality	3097	HIVEP2	OMIM:616977
HP:0001507	Growth abnormality	7037	TFRC	OMIM:616740
HP:0001507	Growth abnormality	10616	RBCK1	OMIM:615895
HP:0001507	Growth abnormality	130589	GALM	ORPHA:570422
HP:0001507	Growth abnormality	6868	ADAM17	OMIM:614328
HP:0001507	Growth abnormality	84693	MCEE	OMIM:251120
HP:0001507	Growth abnormality	7286	TUFT1	OMIM:607655
HP:0001507	Growth abnormality	57511	COG6	OMIM:614576
HP:0001507	Growth abnormality	3868	KRT16	ORPHA:2309
HP:0001507	Growth abnormality	3872	KRT17	ORPHA:2309
HP:0001507	Growth abnormality	3853	KRT6A	ORPHA:2309
HP:0001507	Growth abnormality	3854	KRT6B	ORPHA:2309
HP:0001507	Growth abnormality	326625	MMAB	OMIM:251110
HP:0001507	Growth abnormality	55180	LINS1	OMIM:614340
HP:0001507	Growth abnormality	11222	MRPL3	OMIM:614582
HP:0001507	Growth abnormality	51520	LARS1	OMIM:615438
HP:0001507	Growth abnormality	55617	TASP1	OMIM:618950
HP:0001507	Growth abnormality	6182	MRPL12	OMIM:618951
HP:0001507	Growth abnormality	57688	ZSWIM6	OMIM:617865
HP:0001507	Growth abnormality	28957	MRPS28	OMIM:618958
HP:0001507	Growth abnormality	50615	IL21R	OMIM:615207
HP:0001507	Growth abnormality	57570	TRMT5	OMIM:616539
HP:0001507	Growth abnormality	617	BCS1L	OMIM:124000
HP:0001507	Growth abnormality	80704	SLC19A3	ORPHA:255241
HP:0001507	Growth abnormality	91942	NDUFAF2	ORPHA:255241
HP:0001507	Growth abnormality	91942	NDUFAF2	ORPHA:2609
HP:0001507	Growth abnormality	6834	SURF1	ORPHA:255241
HP:0001507	Growth abnormality	6834	SURF1	OMIM:220110
HP:0001507	Growth abnormality	6834	SURF1	ORPHA:70474
HP:0001507	Growth abnormality	4723	NDUFV1	ORPHA:255241
HP:0001507	Growth abnormality	4723	NDUFV1	ORPHA:2609
HP:0001507	Growth abnormality	55572	FOXRED1	ORPHA:255241
HP:0001507	Growth abnormality	55572	FOXRED1	ORPHA:2609
HP:0001507	Growth abnormality	4729	NDUFV2	ORPHA:255241
HP:0001507	Growth abnormality	4729	NDUFV2	ORPHA:2609
HP:0001507	Growth abnormality	4729	NDUFV2	OMIM:618229
HP:0001507	Growth abnormality	55967	NDUFA12	ORPHA:255241
HP:0001507	Growth abnormality	4720	NDUFS2	ORPHA:255241
HP:0001507	Growth abnormality	4720	NDUFS2	ORPHA:2609
HP:0001507	Growth abnormality	4720	NDUFS2	OMIM:618228
HP:0001507	Growth abnormality	4720	NDUFS2	ORPHA:70474
HP:0001507	Growth abnormality	4724	NDUFS4	ORPHA:255241
HP:0001507	Growth abnormality	4724	NDUFS4	OMIM:252010
HP:0001507	Growth abnormality	4724	NDUFS4	ORPHA:2609
HP:0001507	Growth abnormality	4728	NDUFS8	ORPHA:255241
HP:0001507	Growth abnormality	4728	NDUFS8	ORPHA:2609
HP:0001507	Growth abnormality	4722	NDUFS3	ORPHA:255241
HP:0001507	Growth abnormality	4722	NDUFS3	ORPHA:2609
HP:0001507	Growth abnormality	79133	NDUFAF5	ORPHA:255241
HP:0001507	Growth abnormality	79133	NDUFAF5	ORPHA:2609
HP:0001507	Growth abnormality	79133	NDUFAF5	OMIM:618238
HP:0001507	Growth abnormality	5160	PDHA1	ORPHA:255241
HP:0001507	Growth abnormality	100131801	PET100	ORPHA:255241
HP:0001507	Growth abnormality	100131801	PET100	OMIM:619055
HP:0001507	Growth abnormality	1355	COX15	ORPHA:255241
HP:0001507	Growth abnormality	1892	ECHS1	ORPHA:255241
HP:0001507	Growth abnormality	51079	NDUFA13	ORPHA:255241
HP:0001507	Growth abnormality	51079	NDUFA13	OMIM:618249
HP:0001507	Growth abnormality	374291	NDUFS7	ORPHA:255241
HP:0001507	Growth abnormality	374291	NDUFS7	ORPHA:2609
HP:0001507	Growth abnormality	4705	NDUFA10	ORPHA:255241
HP:0001507	Growth abnormality	51601	LIPT1	ORPHA:255241
HP:0001507	Growth abnormality	4719	NDUFS1	ORPHA:255241
HP:0001507	Growth abnormality	4719	NDUFS1	ORPHA:2609
HP:0001507	Growth abnormality	4719	NDUFS1	OMIM:618226
HP:0001507	Growth abnormality	4695	NDUFA2	ORPHA:255241
HP:0001507	Growth abnormality	4695	NDUFA2	OMIM:618235
HP:0001507	Growth abnormality	4704	NDUFA9	ORPHA:255241
HP:0001507	Growth abnormality	54802	TRIT1	OMIM:617873
HP:0001507	Growth abnormality	51081	MRPS7	OMIM:617872
HP:0001507	Growth abnormality	1537	CYC1	OMIM:615453
HP:0001507	Growth abnormality	26503	SLC17A5	OMIM:269920
HP:0001507	Growth abnormality	133686	NADK2	ORPHA:431361
HP:0001507	Growth abnormality	133686	NADK2	OMIM:616034
HP:0001507	Growth abnormality	3458	IFNG	OMIM:618963
HP:0001507	Growth abnormality	4153	MBL2	OMIM:614372
HP:0001507	Growth abnormality	6929	TCF3	OMIM:619824
HP:0001507	Growth abnormality	6929	TCF3	ORPHA:33110
HP:0001507	Growth abnormality	3852	KRT5	ORPHA:79396
HP:0001507	Growth abnormality	2746	GLUD1	OMIM:606762
HP:0001507	Growth abnormality	100	ADA	ORPHA:277
HP:0001507	Growth abnormality	100	ADA	ORPHA:39041
HP:0001507	Growth abnormality	100	ADA	OMIM:102700
HP:0001507	Growth abnormality	3561	IL2RG	ORPHA:276
HP:0001507	Growth abnormality	3561	IL2RG	OMIM:300400
HP:0001507	Growth abnormality	3561	IL2RG	ORPHA:39041
HP:0001507	Growth abnormality	64421	DCLRE1C	ORPHA:275
HP:0001507	Growth abnormality	64421	DCLRE1C	OMIM:603554
HP:0001507	Growth abnormality	64421	DCLRE1C	OMIM:602450
HP:0001507	Growth abnormality	64421	DCLRE1C	ORPHA:39041
HP:0001507	Growth abnormality	25915	NDUFAF3	ORPHA:2609
HP:0001507	Growth abnormality	25915	NDUFAF3	ORPHA:70474
HP:0001507	Growth abnormality	51103	NDUFAF1	ORPHA:2609
HP:0001507	Growth abnormality	51103	NDUFAF1	OMIM:618234
HP:0001507	Growth abnormality	51300	TIMMDC1	ORPHA:2609
HP:0001507	Growth abnormality	51300	TIMMDC1	OMIM:618251
HP:0001507	Growth abnormality	4716	NDUFB10	ORPHA:2609
HP:0001507	Growth abnormality	284184	NDUFAF8	ORPHA:2609
HP:0001507	Growth abnormality	55863	TMEM126B	ORPHA:2609
HP:0001507	Growth abnormality	55863	TMEM126B	OMIM:618250
HP:0001507	Growth abnormality	4537	MT-ND3	ORPHA:2609
HP:0001507	Growth abnormality	4537	MT-ND3	ORPHA:255210
HP:0001507	Growth abnormality	4694	NDUFA1	ORPHA:2609
HP:0001507	Growth abnormality	4726	NDUFS6	ORPHA:2609
HP:0001507	Growth abnormality	126328	NDUFA11	ORPHA:2609
HP:0001507	Growth abnormality	4709	NDUFB3	ORPHA:2609
HP:0001507	Growth abnormality	4709	NDUFB3	OMIM:618246
HP:0001507	Growth abnormality	80224	NUBPL	ORPHA:2609
HP:0001507	Growth abnormality	29078	NDUFAF4	ORPHA:2609
HP:0001507	Growth abnormality	29078	NDUFAF4	OMIM:618237
HP:0001507	Growth abnormality	4700	NDUFA6	ORPHA:2609
HP:0001507	Growth abnormality	4536	MT-ND2	ORPHA:2609
HP:0001507	Growth abnormality	4536	MT-ND2	ORPHA:255210
HP:0001507	Growth abnormality	4715	NDUFB9	ORPHA:2609
HP:0001507	Growth abnormality	3551	IKBKB	OMIM:615592
HP:0001507	Growth abnormality	229	ALDOB	OMIM:229600
HP:0001507	Growth abnormality	57128	LYRM4	OMIM:615595
HP:0001507	Growth abnormality	197322	ACSF3	OMIM:614265
HP:0001507	Growth abnormality	197322	ACSF3	ORPHA:289504
HP:0001507	Growth abnormality	10054	UBA2	OMIM:619959
HP:0001507	Growth abnormality	4860	PNP	OMIM:613179
HP:0001507	Growth abnormality	80270	HSD3B7	ORPHA:79301
HP:0001507	Growth abnormality	80270	HSD3B7	OMIM:607765
HP:0001507	Growth abnormality	79783	SUGCT	ORPHA:35706
HP:0001507	Growth abnormality	79783	SUGCT	OMIM:231690
HP:0001507	Growth abnormality	4577	MT-TV	ORPHA:255210
HP:0001507	Growth abnormality	3074	HEXB	ORPHA:309162
HP:0001507	Growth abnormality	51111	KMT5B	OMIM:617788
HP:0001507	Growth abnormality	790	CAD	OMIM:616457
HP:0001507	Growth abnormality	3284	HSD3B2	ORPHA:90791
HP:0001507	Growth abnormality	6440	SFTPC	OMIM:610913
HP:0001507	Growth abnormality	23474	ETHE1	ORPHA:51188
HP:0001507	Growth abnormality	23474	ETHE1	OMIM:602473
HP:0001507	Growth abnormality	137492	VPS37A	ORPHA:319199
HP:0001507	Growth abnormality	8560	DEGS1	OMIM:618404
HP:0001507	Growth abnormality	21	ABCA3	OMIM:610921
HP:0001507	Growth abnormality	652	BMP4	OMIM:607932
HP:0001507	Growth abnormality	22872	SEC31A	OMIM:618651
HP:0001507	Growth abnormality	54968	TMEM70	OMIM:614052
HP:0001507	Growth abnormality	28755	TRAC	OMIM:615387
HP:0001507	Growth abnormality	2783	GNB2	OMIM:619503
HP:0001507	Growth abnormality	7092	TLL1	ORPHA:99106
HP:0001507	Growth abnormality	8241	RBM10	OMIM:311900
HP:0001507	Growth abnormality	8241	RBM10	ORPHA:2886
HP:0001507	Growth abnormality	1182	CLCN3	OMIM:619512
HP:0001507	Growth abnormality	54914	FOCAD	OMIM:619991
HP:0001507	Growth abnormality	2592	GALT	OMIM:230400
HP:0001507	Growth abnormality	8021	NUP214	OMIM:618426
HP:0001507	Growth abnormality	166785	MMAA	OMIM:251100
HP:0001507	Growth abnormality	5551	PRF1	OMIM:603553
HP:0001507	Growth abnormality	9533	POLR1C	OMIM:616494
HP:0001507	Growth abnormality	9533	POLR1C	ORPHA:861
HP:0001507	Growth abnormality	5971	RELB	OMIM:617585
HP:0001507	Growth abnormality	5692	PSMB4	OMIM:617591
HP:0001507	Growth abnormality	5698	PSMB9	OMIM:617591
HP:0001507	Growth abnormality	29929	ALG6	ORPHA:79320
HP:0001507	Growth abnormality	10195	ALG3	OMIM:601110
HP:0001507	Growth abnormality	27247	NFU1	OMIM:605711
HP:0001507	Growth abnormality	57505	AARS2	OMIM:614096
HP:0001507	Growth abnormality	6792	CDKL5	ORPHA:1934
HP:0001507	Growth abnormality	3736	KCNA1	ORPHA:1934
HP:0001507	Growth abnormality	9091	PIGQ	ORPHA:1934
HP:0001507	Growth abnormality	2775	GNAO1	ORPHA:1934
HP:0001507	Growth abnormality	81603	TRIM8	ORPHA:1934
HP:0001507	Growth abnormality	79751	SLC25A22	ORPHA:1934
HP:0001507	Growth abnormality	150094	SIK1	ORPHA:1934
HP:0001507	Growth abnormality	11284	PNKP	ORPHA:1934
HP:0001507	Growth abnormality	6326	SCN2A	ORPHA:1934
HP:0001507	Growth abnormality	51227	PIGP	ORPHA:1934
HP:0001507	Growth abnormality	6324	SCN1B	ORPHA:1934
HP:0001507	Growth abnormality	4761	NEUROD2	ORPHA:1934
HP:0001507	Growth abnormality	4594	MMUT	ORPHA:79312
HP:0001507	Growth abnormality	4594	MMUT	OMIM:251000
HP:0001507	Growth abnormality	973	CD79A	ORPHA:33110
HP:0001507	Growth abnormality	973	CD79A	OMIM:613501
HP:0001507	Growth abnormality	974	CD79B	ORPHA:33110
HP:0001507	Growth abnormality	3543	IGLL1	ORPHA:33110
HP:0001507	Growth abnormality	29760	BLNK	ORPHA:33110
HP:0001507	Growth abnormality	56262	LRRC8A	ORPHA:33110
HP:0001507	Growth abnormality	84706	GPT2	OMIM:616281
HP:0001507	Growth abnormality	84706	GPT2	ORPHA:477673
HP:0001507	Growth abnormality	30000	TNPO2	OMIM:619556
HP:0001507	Growth abnormality	498	ATP5F1A	OMIM:616045
HP:0001507	Growth abnormality	498	ATP5F1A	OMIM:620358
HP:0001507	Growth abnormality	79705	LRRK1	OMIM:615198
HP:0001507	Growth abnormality	51728	POLR3K	OMIM:619310
HP:0001507	Growth abnormality	8818	DPM2	ORPHA:329178
HP:0001507	Growth abnormality	2627	GATA6	OMIM:600001
HP:0001507	Growth abnormality	2627	GATA6	ORPHA:2255
HP:0001507	Growth abnormality	26275	HIBCH	ORPHA:88639
HP:0001507	Growth abnormality	26275	HIBCH	OMIM:250620
HP:0001507	Growth abnormality	22861	NLRP1	OMIM:617388
HP:0001507	Growth abnormality	10166	SLC25A15	ORPHA:415
HP:0001507	Growth abnormality	10166	SLC25A15	OMIM:238970
HP:0001507	Growth abnormality	79068	FTO	OMIM:612938
HP:0001507	Growth abnormality	8869	ST3GAL5	OMIM:609056
HP:0001507	Growth abnormality	1956	EGFR	OMIM:616069
HP:0001507	Growth abnormality	7019	TFAM	OMIM:617156
HP:0001507	Growth abnormality	3394	IRF8	OMIM:226990
HP:0001507	Growth abnormality	80324	PUS1	OMIM:600462
HP:0001507	Growth abnormality	191	AHCY	ORPHA:88618
HP:0001507	Growth abnormality	191	AHCY	OMIM:613752
HP:0001507	Growth abnormality	4714	NDUFB8	OMIM:618252
HP:0001507	Growth abnormality	4714	NDUFB8	ORPHA:70474
HP:0001507	Growth abnormality	84701	COX4I2	OMIM:612714
HP:0001507	Growth abnormality	11340	EXOSC8	OMIM:616081
HP:0001507	Growth abnormality	11340	EXOSC8	ORPHA:2254
HP:0001507	Growth abnormality	35	ACADS	OMIM:201470
HP:0001507	Growth abnormality	35	ACADS	ORPHA:26792
HP:0001507	Growth abnormality	9420	CYP7B1	OMIM:613812
HP:0001507	Growth abnormality	84172	POLR1B	ORPHA:861
HP:0001507	Growth abnormality	51082	POLR1D	ORPHA:861
HP:0001507	Growth abnormality	6949	TCOF1	ORPHA:861
HP:0001507	Growth abnormality	374354	NHLRC2	OMIM:618278
HP:0001507	Growth abnormality	440138	ALG11	ORPHA:280071
HP:0001507	Growth abnormality	23287	AGTPBP1	OMIM:618276
HP:0001507	Growth abnormality	23287	AGTPBP1	ORPHA:2254
HP:0001507	Growth abnormality	23636	NUP62	ORPHA:225154
HP:0001507	Growth abnormality	23636	NUP62	OMIM:271930
HP:0001507	Growth abnormality	51371	POMP	OMIM:618048
HP:0001507	Growth abnormality	1984	EIF5A	OMIM:619376
HP:0001507	Growth abnormality	210	ALAD	OMIM:612740
HP:0001507	Growth abnormality	1583	CYP11A1	ORPHA:168558
HP:0001507	Growth abnormality	1583	CYP11A1	ORPHA:289548
HP:0001507	Growth abnormality	124454	EARS2	OMIM:614924
HP:0001507	Growth abnormality	3735	KARS1	OMIM:619147
HP:0001507	Growth abnormality	54938	SARS2	OMIM:613845
HP:0001507	Growth abnormality	6584	SLC22A5	OMIM:212140
HP:0001507	Growth abnormality	4702	NDUFA8	OMIM:619272
HP:0001507	Growth abnormality	10128	LRPPRC	OMIM:220111
HP:0001507	Growth abnormality	10128	LRPPRC	ORPHA:70472
HP:0001507	Growth abnormality	10134	BCAP31	OMIM:300475
HP:0001507	Growth abnormality	10134	BCAP31	ORPHA:369939
HP:0001507	Growth abnormality	91574	MTRFR	ORPHA:254930
HP:0001507	Growth abnormality	91574	MTRFR	OMIM:613559
HP:0001507	Growth abnormality	4570	MT-TN	OMIM:220110
HP:0001507	Growth abnormality	4774	NFIA	OMIM:613735
HP:0001507	Growth abnormality	6341	SCO1	OMIM:619048
HP:0001507	Growth abnormality	1352	COX10	OMIM:619046
HP:0001507	Growth abnormality	55163	PNPO	ORPHA:79096
HP:0001507	Growth abnormality	55163	PNPO	OMIM:610090
HP:0001507	Growth abnormality	7535	ZAP70	OMIM:269840
HP:0001507	Growth abnormality	7535	ZAP70	ORPHA:911
HP:0001507	Growth abnormality	1136	CHRNA3	OMIM:191800
HP:0001507	Growth abnormality	340061	STING1	OMIM:615934
HP:0001507	Growth abnormality	132158	GLYCTK	OMIM:220120
HP:0001507	Growth abnormality	28976	ACAD9	ORPHA:99901
HP:0001507	Growth abnormality	5826	ABCD4	OMIM:614857
HP:0001507	Growth abnormality	338328	GPIHBP1	OMIM:615947
HP:0001507	Growth abnormality	9255	AIMP1	OMIM:260600
HP:0001507	Growth abnormality	51010	EXOSC3	ORPHA:2254
HP:0001507	Growth abnormality	7443	VRK1	ORPHA:2254
HP:0001507	Growth abnormality	91137	SLC25A46	ORPHA:2254
HP:0001507	Growth abnormality	23600	AMACR	OMIM:214950
HP:0001507	Growth abnormality	5700	PSMC1	OMIM:620071
HP:0001507	Growth abnormality	190	NR0B1	OMIM:300200
HP:0001507	Growth abnormality	2548	GAA	ORPHA:308552
HP:0001507	Growth abnormality	4306	NR3C2	OMIM:177735
HP:0001507	Growth abnormality	1811	SLC26A3	OMIM:214700
HP:0001507	Growth abnormality	5915	RARB	ORPHA:2470
HP:0001507	Growth abnormality	51067	YARS2	OMIM:613561
HP:0001507	Growth abnormality	55690	PACS1	ORPHA:329224
HP:0001507	Growth abnormality	79628	SH3TC2	ORPHA:99949
HP:0001507	Growth abnormality	1828	DSG1	OMIM:615508
HP:0001507	Growth abnormality	6888	TALDO1	OMIM:606003
HP:0001507	Growth abnormality	865	CBFB	OMIM:620099
HP:0001507	Growth abnormality	2632	GBE1	OMIM:232500
HP:0001507	Growth abnormality	7167	TPI1	OMIM:615512
HP:0001507	Growth abnormality	3932	LCK	OMIM:615758
HP:0001507	Growth abnormality	5250	SLC25A3	ORPHA:91130
HP:0001507	Growth abnormality	8050	PDHX	ORPHA:255182
HP:0001507	Growth abnormality	59067	IL21	OMIM:615767
HP:0001507	Growth abnormality	51116	MRPS2	OMIM:617950
HP:0001507	Growth abnormality	9512	PMPCB	OMIM:617954
HP:0001507	Growth abnormality	10095	ARPC1B	OMIM:617718
HP:0001507	Growth abnormality	91647	ATPAF2	OMIM:604273
HP:0001507	Growth abnormality	54664	TMEM106B	OMIM:617964
HP:0001507	Growth abnormality	89874	SLC25A21	OMIM:618811
HP:0001507	Growth abnormality	2584	GALK1	ORPHA:79237
HP:0001507	Growth abnormality	51501	HIKESHI	OMIM:616881
HP:0001507	Growth abnormality	189	AGXT	ORPHA:93598
HP:0001507	Growth abnormality	9997	SCO2	ORPHA:70474
HP:0001507	Growth abnormality	7204	TRIO	ORPHA:476126
HP:0001507	Growth abnormality	54676	GTPBP2	OMIM:617988
HP:0001507	Growth abnormality	100506658	OCLN	OMIM:251290
HP:0001507	Growth abnormality	6519	SLC3A1	ORPHA:163690
HP:0001507	Growth abnormality	6519	SLC3A1	ORPHA:163693
HP:0001507	Growth abnormality	5495	PPM1B	ORPHA:163693
HP:0001507	Growth abnormality	79823	CAMKMT	ORPHA:163693
HP:0001507	Growth abnormality	9414	TJP2	OMIM:607748
HP:0001507	Growth abnormality	440	ASNS	OMIM:615574
HP:0001507	Growth abnormality	27040	LAT	OMIM:617514
HP:0001507	Growth abnormality	738	VPS51	OMIM:618606
HP:0001507	Growth abnormality	25974	MMACHC	ORPHA:79282
HP:0001507	Growth abnormality	25974	MMACHC	OMIM:277400
HP:0001507	Growth abnormality	27249	MMADHC	ORPHA:79283
HP:0001507	Growth abnormality	5430	POLR2A	OMIM:618603
HP:0001507	Growth abnormality	2639	GCDH	OMIM:231670
HP:0001507	Growth abnormality	79587	CARS2	OMIM:616672
HP:0001507	Growth abnormality	7372	UMPS	OMIM:258900
HP:0001507	Growth abnormality	55753	OGDHL	OMIM:619701
HP:0001507	Growth abnormality	5052	PRDX1	OMIM:277400
HP:0001507	Growth abnormality	2582	GALE	OMIM:230350
HP:0001507	Growth abnormality	51569	UFM1	OMIM:617899
HP:0001507	Growth abnormality	8518	ELP1	ORPHA:1764
HP:0001507	Growth abnormality	8518	ELP1	OMIM:223900
HP:0001507	Growth abnormality	8425	LTBP4	OMIM:613177
HP:0001507	Growth abnormality	55240	STEAP3	OMIM:615234
HP:0001507	Growth abnormality	55240	STEAP3	ORPHA:300298
HP:0001507	Growth abnormality	55823	VPS11	ORPHA:466934
HP:0001507	Growth abnormality	6898	TAT	OMIM:276600
HP:0001507	Growth abnormality	1308	COL17A1	ORPHA:79406
HP:0001507	Growth abnormality	1308	COL17A1	ORPHA:79402
HP:0001507	Growth abnormality	7259	TSPYL1	OMIM:608800
HP:0001507	Growth abnormality	7259	TSPYL1	ORPHA:168593
HP:0001507	Growth abnormality	56259	CTNNBL1	OMIM:619846
HP:0001507	Growth abnormality	3691	ITGB4	ORPHA:79402
HP:0001507	Growth abnormality	57178	ZMIZ1	OMIM:618659
HP:0001507	Growth abnormality	8364	H4C3	OMIM:619758
HP:0001507	Growth abnormality	56947	MFF	ORPHA:485421
HP:0001507	Growth abnormality	56947	MFF	OMIM:617086
HP:0001507	Growth abnormality	11261	CHP1	OMIM:618438
HP:0001507	Growth abnormality	3978	LIG1	OMIM:619774
HP:0001507	Growth abnormality	6528	SLC5A5	OMIM:274400
HP:0001507	Growth abnormality	51311	TLR8	OMIM:301078
HP:0001507	Growth abnormality	81704	DOCK8	OMIM:243700
HP:0001507	Growth abnormality	10533	ATG7	OMIM:619422
HP:0001507	Growth abnormality	3000	GUCY2D	OMIM:204000
HP:0001507	Growth abnormality	51013	EXOSC1	OMIM:619304
HP:0001507	Growth abnormality	8600	TNFSF11	ORPHA:667
HP:0001507	Growth abnormality	5308	PITX2	ORPHA:782
HP:0001507	Growth abnormality	2296	FOXC1	ORPHA:782
HP:0001507	Growth abnormality	22854	NTNG1	ORPHA:3095
HP:0001507	Growth abnormality	10978	CLP1	ORPHA:411493
HP:0001507	Growth abnormality	10978	CLP1	OMIM:615803
HP:0001507	Growth abnormality	6904	TBCD	ORPHA:496641
HP:0001507	Growth abnormality	6904	TBCD	OMIM:617193
HP:0001507	Growth abnormality	7965	AIMP2	OMIM:618006
HP:0001507	Growth abnormality	55750	AGK	OMIM:212350
HP:0001507	Growth abnormality	5283	PIGH	OMIM:618010
HP:0001507	Growth abnormality	2290	FOXG1	ORPHA:261144
HP:0001507	Growth abnormality	51095	TRNT1	OMIM:616084
HP:0001507	Growth abnormality	31	ACACA	OMIM:613933
HP:0001507	Growth abnormality	405753	DUOXA2	OMIM:274900
HP:0001507	Growth abnormality	285590	SH3PXD2B	OMIM:249420
HP:0001507	Growth abnormality	6472	SHMT2	OMIM:619121
HP:0001507	Growth abnormality	199221	DZIP1L	ORPHA:731
HP:0001507	Growth abnormality	3090	HIC1	ORPHA:531
HP:0001507	Growth abnormality	81615	TMEM163	OMIM:620243
HP:0001507	Growth abnormality	4914	NTRK1	ORPHA:642
HP:0001507	Growth abnormality	389434	IYD	OMIM:274800
HP:0001507	Growth abnormality	1604	CD55	OMIM:226300
HP:0001507	Growth abnormality	158	ADSL	OMIM:103050
HP:0001507	Growth abnormality	10667	FARS2	OMIM:614946
HP:0001507	Growth abnormality	2038	EPB42	ORPHA:822
HP:0001507	Growth abnormality	23149	FCHO1	OMIM:619164
HP:0001507	Growth abnormality	26153	KIF26A	OMIM:620156
HP:0001507	Growth abnormality	84992	PIGY	ORPHA:247262
HP:0001507	Growth abnormality	84992	PIGY	OMIM:616809
HP:0001507	Growth abnormality	84720	PIGO	ORPHA:247262
HP:0001507	Growth abnormality	84720	PIGO	OMIM:614749
HP:0001507	Growth abnormality	93210	PGAP3	ORPHA:247262
HP:0001507	Growth abnormality	93210	PGAP3	OMIM:615716
HP:0001507	Growth abnormality	284098	PIGW	ORPHA:247262
HP:0001507	Growth abnormality	55650	PIGV	ORPHA:247262
HP:0001507	Growth abnormality	23036	ZNF292	OMIM:619188
HP:0001507	Growth abnormality	4338	MOCS2	OMIM:252160
HP:0001507	Growth abnormality	3782	KCNN3	ORPHA:3473
HP:0001507	Growth abnormality	1174	AP1S1	OMIM:609313
HP:0001507	Growth abnormality	1576	CYP3A4	OMIM:619073
HP:0001507	Growth abnormality	50628	GEMIN4	OMIM:617913
HP:0001507	Growth abnormality	51062	ATL1	ORPHA:100984
HP:0001507	Growth abnormality	2022	ENG	ORPHA:329971
HP:0001507	Growth abnormality	65062	TMEM237	OMIM:614424
HP:0001507	Growth abnormality	5429	POLH	OMIM:278750
HP:0001507	Growth abnormality	79840	NHEJ1	ORPHA:169079
HP:0001507	Growth abnormality	10841	FTCD	OMIM:229100
HP:0001507	Growth abnormality	6785	ELOVL4	OMIM:614457
HP:0001507	Growth abnormality	7074	TIAM1	OMIM:619908
HP:0001507	Growth abnormality	11019	LIAS	OMIM:614462
HP:0001507	Growth abnormality	10367	MICU1	OMIM:615673
HP:0001507	Growth abnormality	81689	ISCA1	OMIM:617613
HP:0001507	Growth abnormality	4337	MOCS1	OMIM:252150
HP:0001507	Growth abnormality	4190	MDH1	OMIM:618959
HP:0001507	Growth abnormality	3587	IL10RA	OMIM:613148
HP:0001507	Growth abnormality	55691	FRMD4A	ORPHA:466688
HP:0001507	Growth abnormality	1284	COL4A2	OMIM:614483
HP:0001507	Growth abnormality	1807	DPYS	OMIM:222748
HP:0001507	Growth abnormality	1794	DOCK2	OMIM:616433
HP:0001507	Growth abnormality	2218	FKTN	ORPHA:272
HP:0001507	Growth abnormality	9692	PRORP	OMIM:619737
HP:0001507	Growth abnormality	5155	PDGFB	ORPHA:1980
HP:0001507	Growth abnormality	9213	XPR1	ORPHA:1980
HP:0001507	Growth abnormality	57462	MYORG	ORPHA:1980
HP:0001507	Growth abnormality	6575	SLC20A2	ORPHA:1980
HP:0001507	Growth abnormality	58494	JAM2	ORPHA:1980
HP:0001507	Growth abnormality	5528	PPP2R5D	OMIM:616355
HP:0001507	Growth abnormality	79991	STN1	OMIM:617341
HP:0001507	Growth abnormality	3800	KIF5C	OMIM:615282
HP:0001507	Growth abnormality	22	ABCB7	ORPHA:2802
HP:0001507	Growth abnormality	136647	MPLKIP	ORPHA:33364
HP:0001507	Growth abnormality	6897	TARS1	ORPHA:33364
HP:0001507	Growth abnormality	54101	RIPK4	OMIM:263650
HP:0001507	Growth abnormality	51117	COQ4	OMIM:616276
HP:0001507	Growth abnormality	85476	GFM1	OMIM:609060
HP:0001507	Growth abnormality	10102	TSFM	OMIM:610505
HP:0001507	Growth abnormality	91754	NEK9	OMIM:617022
HP:0001507	Growth abnormality	5649	RELN	ORPHA:89844
HP:0001507	Growth abnormality	10300	KATNB1	ORPHA:89844
HP:0001507	Growth abnormality	51163	DBR1	OMIM:619441
HP:0001507	Growth abnormality	84340	GFM2	ORPHA:565624
HP:0001507	Growth abnormality	84340	GFM2	OMIM:618397
HP:0001507	Growth abnormality	4927	NUP88	ORPHA:994
HP:0001507	Growth abnormality	7846	TUBA1A	ORPHA:994
HP:0001507	Growth abnormality	6572	SLC18A3	ORPHA:994
HP:0001507	Growth abnormality	285489	DOK7	ORPHA:994
HP:0001507	Growth abnormality	51241	COX16	OMIM:619355
HP:0001507	Growth abnormality	348180	CTU2	OMIM:618142
HP:0001507	Growth abnormality	90522	YIF1B	OMIM:619125
HP:0001507	Growth abnormality	55640	FLVCR2	OMIM:225790
HP:0001507	Growth abnormality	7284	TUFM	OMIM:610678
HP:0001507	Growth abnormality	55252	ASXL2	OMIM:617190
HP:0001507	Growth abnormality	342035	GLDN	OMIM:617194
HP:0001507	Growth abnormality	84231	TRAF7	OMIM:618164
HP:0001507	Growth abnormality	5297	PI4KA	ORPHA:436252
HP:0001507	Growth abnormality	5297	PI4KA	ORPHA:98889
HP:0001507	Growth abnormality	57217	TTC7A	ORPHA:436252
HP:0001507	Growth abnormality	57217	TTC7A	OMIM:243150
HP:0001507	Growth abnormality	219844	HYLS1	OMIM:236680
HP:0001507	Growth abnormality	64858	DCLRE1B	OMIM:620133
HP:0001507	Growth abnormality	137814	NKX2-6	ORPHA:3384
HP:0001507	Growth abnormality	137814	NKX2-6	ORPHA:3303
HP:0001507	Growth abnormality	23129	PLXND1	ORPHA:3384
HP:0001507	Growth abnormality	1832	DSP	ORPHA:158687
HP:0001507	Growth abnormality	3728	JUP	ORPHA:158687
HP:0001507	Growth abnormality	1340	COX6B1	OMIM:619051
HP:0001507	Growth abnormality	5313	PKLR	OMIM:266200
HP:0001507	Growth abnormality	10352	WARS2	ORPHA:572798
HP:0001507	Growth abnormality	10352	WARS2	OMIM:617710
HP:0001507	Growth abnormality	57216	VANGL2	ORPHA:563609
HP:0001507	Growth abnormality	2615	LRRC32	OMIM:619074
HP:0001507	Growth abnormality	222546	RFX6	OMIM:615710
HP:0001507	Growth abnormality	9289	ADGRG1	ORPHA:98889
HP:0001507	Growth abnormality	27286	SRPX2	ORPHA:98889
HP:0001507	Growth abnormality	57459	GATAD2B	ORPHA:363686
HP:0001507	Growth abnormality	5591	PRKDC	OMIM:615966
HP:0001507	Growth abnormality	3911	LAMA5	OMIM:620076
HP:0001507	Growth abnormality	4846	NOS3	OMIM:189800
HP:0001507	Growth abnormality	667	DST	OMIM:614653
HP:0001507	Growth abnormality	57017	COQ9	OMIM:614654
HP:0001507	Growth abnormality	1144	CHRND	OMIM:253290
HP:0001507	Growth abnormality	1134	CHRNA1	OMIM:253290
HP:0001507	Growth abnormality	56052	ALG1	OMIM:608540
HP:0001507	Growth abnormality	6005	RHAG	ORPHA:71275
HP:0001507	Growth abnormality	6006	RHCE	ORPHA:71275
HP:0001507	Growth abnormality	6007	RHD	ORPHA:71275
HP:0001507	Growth abnormality	27238	GPKOW	ORPHA:2570
HP:0001507	Growth abnormality	3791	KDR	ORPHA:3303
HP:0001507	Growth abnormality	140628	GATA5	ORPHA:3303
HP:0001507	Growth abnormality	2324	FLT4	ORPHA:3303
HP:0001507	Growth abnormality	10370	CITED2	ORPHA:3303
HP:0001507	Growth abnormality	169792	GLIS3	OMIM:610199
HP:0001507	Growth abnormality	5053	PAH	ORPHA:2209
HP:0001507	Growth abnormality	3796	KIF2A	OMIM:615411
HP:0001507	Growth abnormality	57211	ADGRG6	OMIM:616503
HP:0001507	Growth abnormality	708	C1QBP	OMIM:617713
HP:0001507	Growth abnormality	1861	TOR1A	OMIM:618947
HP:0001507	Growth abnormality	3704	ITPA	OMIM:616647
HP:0001507	Growth abnormality	55278	QRSL1	OMIM:618835
HP:0001507	Growth abnormality	5188	GATB	OMIM:618838
HP:0001507	Growth abnormality	55164	SHQ1	OMIM:619922
HP:0001507	Growth abnormality	283459	GATC	OMIM:618839
HP:0001507	Growth abnormality	57107	PDSS2	ORPHA:255249
HP:0001507	Growth abnormality	27235	COQ2	ORPHA:255249
HP:0001507	Growth abnormality	5879	RAC1	OMIM:617751
HP:0001507	Growth abnormality	200205	IBA57	OMIM:615330
HP:0001507	Growth abnormality	119559	SFXN4	OMIM:615578
HP:0001507	Growth abnormality	51294	PCDH12	OMIM:251280
HP:0001507	Growth abnormality	2036	EPB41L1	OMIM:614257
HP:0001507	Growth abnormality	27316	RBMX	OMIM:300238
HP:0001507	Growth abnormality	63036	CELA2A	OMIM:618620
HP:0001507	Growth abnormality	10159	ATP6AP2	ORPHA:93952
HP:0001507	Growth abnormality	149775	GNAS-AS1	OMIM:603233
HP:0001507	Growth abnormality	7552	ZNF711	OMIM:300803
HP:0001507	Growth abnormality	3952	LEP	OMIM:614962
HP:0001507	Growth abnormality	3952	LEP	ORPHA:66628
HP:0001507	Growth abnormality	2770	GNAI1	OMIM:619854
HP:0001507	Growth abnormality	1581	CYP7A1	ORPHA:209902
HP:0001507	Growth abnormality	1656	DDX6	OMIM:618653
HP:0001507	Growth abnormality	1954	MEGF8	OMIM:614976
HP:0001507	Growth abnormality	1954	MEGF8	ORPHA:65759
HP:0001507	Growth abnormality	30011	SH3KBP1	OMIM:300310
HP:0001507	Growth abnormality	57498	KIDINS220	ORPHA:521390
HP:0001507	Growth abnormality	57498	KIDINS220	OMIM:617296
HP:0001507	Growth abnormality	4808	NHLH2	OMIM:619755
HP:0001507	Growth abnormality	4771	NF2	ORPHA:2495
HP:0001507	Growth abnormality	283209	PGM2L1	OMIM:620191
HP:0001507	Growth abnormality	4205	MEF2A	OMIM:608320
HP:0001507	Growth abnormality	7030	TFE3	OMIM:301066
HP:0001507	Growth abnormality	2273	FHL1	ORPHA:98863
HP:0001507	Growth abnormality	2010	EMD	ORPHA:98863
HP:0001507	Growth abnormality	1642	DDB1	OMIM:619426
HP:0001507	Growth abnormality	79188	TMEM43	ORPHA:98853
HP:0001507	Growth abnormality	23224	SYNE2	ORPHA:98853
HP:0001507	Growth abnormality	55217	TMLHE	OMIM:300872
HP:0001507	Growth abnormality	92840	REEP6	ORPHA:791
HP:0001507	Growth abnormality	6094	ROM1	ORPHA:791
HP:0001507	Growth abnormality	6017	RLBP1	ORPHA:791
HP:0001507	Growth abnormality	7401	CLRN1	ORPHA:791
HP:0001507	Growth abnormality	24	ABCA4	ORPHA:791
HP:0001507	Growth abnormality	130557	ZNF513	ORPHA:791
HP:0001507	Growth abnormality	92211	CDHR1	ORPHA:791
HP:0001507	Growth abnormality	23568	ARL2BP	ORPHA:791
HP:0001507	Growth abnormality	6121	RPE65	ORPHA:791
HP:0001507	Growth abnormality	54806	AHI1	ORPHA:791
HP:0001507	Growth abnormality	6101	RP1	ORPHA:791
HP:0001507	Growth abnormality	3419	IDH3A	ORPHA:791
HP:0001507	Growth abnormality	4751	NEK2	ORPHA:791
HP:0001507	Growth abnormality	346007	EYS	ORPHA:791
HP:0001507	Growth abnormality	8100	IFT88	ORPHA:791
HP:0001507	Growth abnormality	23020	SNRNP200	ORPHA:791
HP:0001507	Growth abnormality	762	CA4	ORPHA:791
HP:0001507	Growth abnormality	196	AHR	ORPHA:791
HP:0001507	Growth abnormality	3614	IMPDH1	ORPHA:791
HP:0001507	Growth abnormality	6103	RPGR	ORPHA:791
HP:0001507	Growth abnormality	1406	CRX	ORPHA:791
HP:0001507	Growth abnormality	5148	PDE6G	ORPHA:791
HP:0001507	Growth abnormality	26121	PRPF31	ORPHA:791
HP:0001507	Growth abnormality	4117	MAK	ORPHA:791
HP:0001507	Growth abnormality	25794	FSCN2	ORPHA:791
HP:0001507	Growth abnormality	375298	CERKL	ORPHA:791
HP:0001507	Growth abnormality	3420	IDH3B	ORPHA:791
HP:0001507	Growth abnormality	57670	KIAA1549	ORPHA:791
HP:0001507	Growth abnormality	7275	TUB	ORPHA:791
HP:0001507	Growth abnormality	7275	TUB	OMIM:616188
HP:0001507	Growth abnormality	24148	PRPF6	ORPHA:791
HP:0001507	Growth abnormality	23418	CRB1	ORPHA:791
HP:0001507	Growth abnormality	10461	MERTK	ORPHA:791
HP:0001507	Growth abnormality	57709	SLC7A14	ORPHA:791
HP:0001507	Growth abnormality	768206	PRCD	ORPHA:791
HP:0001507	Growth abnormality	7399	USH2A	ORPHA:791
HP:0001507	Growth abnormality	23370	ARHGEF18	ORPHA:791
HP:0001507	Growth abnormality	5949	RBP3	ORPHA:791
HP:0001507	Growth abnormality	6010	RHO	ORPHA:791
HP:0001507	Growth abnormality	6100	RP9	ORPHA:791
HP:0001507	Growth abnormality	10002	NR2E3	ORPHA:791
HP:0001507	Growth abnormality	9227	LRAT	ORPHA:791
HP:0001507	Growth abnormality	84140	FAM161A	ORPHA:791
HP:0001507	Growth abnormality	55812	SPATA7	ORPHA:791
HP:0001507	Growth abnormality	55624	POMGNT1	ORPHA:791
HP:0001507	Growth abnormality	79797	ZNF408	ORPHA:791
HP:0001507	Growth abnormality	403	ARL3	ORPHA:791
HP:0001507	Growth abnormality	5145	PDE6A	ORPHA:791
HP:0001507	Growth abnormality	8842	PROM1	ORPHA:791
HP:0001507	Growth abnormality	9128	PRPF4	ORPHA:791
HP:0001507	Growth abnormality	145226	RDH12	ORPHA:791
HP:0001507	Growth abnormality	50939	IMPG2	ORPHA:791
HP:0001507	Growth abnormality	2979	GUCA1B	ORPHA:791
HP:0001507	Growth abnormality	1259	CNGA1	ORPHA:791
HP:0001507	Growth abnormality	1258	CNGB1	ORPHA:791
HP:0001507	Growth abnormality	60509	AGBL5	ORPHA:791
HP:0001507	Growth abnormality	5961	PRPH2	ORPHA:791
HP:0001507	Growth abnormality	388939	PCARE	ORPHA:791
HP:0001507	Growth abnormality	7439	BEST1	ORPHA:791
HP:0001507	Growth abnormality	9785	DHX38	ORPHA:791
HP:0001507	Growth abnormality	7287	TULP1	ORPHA:791
HP:0001507	Growth abnormality	5995	RGR	ORPHA:791
HP:0001507	Growth abnormality	9129	PRPF3	ORPHA:791
HP:0001507	Growth abnormality	55975	KLHL7	ORPHA:791
HP:0001507	Growth abnormality	3617	IMPG1	ORPHA:791
HP:0001507	Growth abnormality	94137	RP1L1	ORPHA:791
HP:0001507	Growth abnormality	5158	PDE6B	ORPHA:791
HP:0001507	Growth abnormality	6102	RP2	ORPHA:791
HP:0001507	Growth abnormality	55857	KIZ	ORPHA:791
HP:0001507	Growth abnormality	4901	NRL	ORPHA:791
HP:0001507	Growth abnormality	10594	PRPF8	ORPHA:791
HP:0001507	Growth abnormality	6295	SAG	ORPHA:791
HP:0001507	Growth abnormality	3290	HSD11B1	OMIM:614662
HP:0001507	Growth abnormality	5575	PRKAR1B	OMIM:619680
HP:0001507	Growth abnormality	348	APOE	ORPHA:412
HP:0001507	Growth abnormality	9563	H6PD	OMIM:604931
HP:0001507	Growth abnormality	23040	MYT1L	OMIM:616521
HP:0001507	Growth abnormality	26047	CNTNAP2	ORPHA:163681
HP:0001507	Growth abnormality	63932	STEEP1	OMIM:301013
HP:0001507	Growth abnormality	200894	ARL13B	OMIM:612291
HP:0001507	Growth abnormality	51124	IER3IP1	OMIM:614231
HP:0001507	Growth abnormality	1512	CTSH	ORPHA:2073
HP:0001507	Growth abnormality	5032	P2RY11	ORPHA:2073
HP:0001507	Growth abnormality	4340	MOG	ORPHA:2073
HP:0001507	Growth abnormality	4340	MOG	OMIM:614250
HP:0001507	Growth abnormality	3060	HCRT	ORPHA:2073
HP:0001507	Growth abnormality	22891	ZNF365	ORPHA:2073
HP:0001507	Growth abnormality	7292	TNFSF4	ORPHA:2073
HP:0001507	Growth abnormality	9320	TRIP12	OMIM:617752
HP:0001507	Growth abnormality	1315	COPB1	OMIM:619255
HP:0001507	Growth abnormality	23102	TBC1D2B	ORPHA:397973
HP:0001507	Growth abnormality	109	ADCY3	OMIM:617885
HP:0001507	Growth abnormality	57194	ATP10A	ORPHA:411515
HP:0001507	Growth abnormality	81555	YIPF5	OMIM:619278
HP:0001507	Growth abnormality	57176	VARS2	OMIM:615917
HP:0001507	Growth abnormality	4487	MSX1	ORPHA:199302
HP:0001507	Growth abnormality	5818	NECTIN1	ORPHA:199302
HP:0001507	Growth abnormality	3664	IRF6	ORPHA:199302
HP:0001507	Growth abnormality	318	NUDT2	OMIM:619844
HP:0001507	Growth abnormality	4868	NPHS1	OMIM:256300
HP:0001507	Growth abnormality	116228	COX20	OMIM:619054
HP:0001507	Growth abnormality	1272	CNTN1	OMIM:612540
HP:0001507	Growth abnormality	54675	CRLS1	OMIM:620167
HP:0001507	Growth abnormality	7386	UQCRFS1	OMIM:618775
HP:0001507	Growth abnormality	51021	MRPS16	OMIM:610498
HP:0001507	Growth abnormality	55621	TRMT1	OMIM:618302
HP:0001507	Growth abnormality	4593	MUSK	OMIM:208150
HP:0001507	Growth abnormality	79753	SNIP1	OMIM:614501
HP:0001507	Growth abnormality	7385	UQCRC2	OMIM:615160
HP:0001507	Growth abnormality	2683	B4GALT1	ORPHA:79332
HP:0001507	Growth abnormality	8218	CLTCL1	ORPHA:453510
HP:0001507	Growth abnormality	8322	FZD4	ORPHA:90050
HP:0001507	Growth abnormality	63925	ZNF335	OMIM:615095
HP:0001507	Growth abnormality	50619	DEF6	OMIM:619573
HP:0001507	Growth abnormality	23511	NUP188	OMIM:618804
HP:0001507	Growth abnormality	4905	NSF	OMIM:619340
HP:0001507	Growth abnormality	10046	MAMLD1	ORPHA:95706
HP:0001507	Growth abnormality	1727	CYB5R3	ORPHA:621
HP:0001507	Growth abnormality	6697	SPR	ORPHA:70594
HP:0001507	Growth abnormality	213	ALB	ORPHA:86816
HP:0001507	Growth abnormality	60558	GUF1	OMIM:617065
HP:0001507	Growth abnormality	202018	TAPT1	OMIM:616897
HP:0001507	Growth abnormality	23397	NCAPH	OMIM:617985
HP:0001507	Growth abnormality	5805	PTS	OMIM:261640
HP:0001507	Growth abnormality	29928	TIMM22	OMIM:618851
HP:0001507	Growth abnormality	4713	NDUFB7	OMIM:620135
HP:0001507	Growth abnormality	51114	ZDHHC9	OMIM:300799
HP:0001507	Growth abnormality	51114	ZDHHC9	ORPHA:776
HP:0001507	Growth abnormality	84627	ZNF469	OMIM:229200
HP:0001507	Growth abnormality	3248	HPGD	OMIM:259100
HP:0001507	Growth abnormality	5447	POR	ORPHA:95699
HP:0001507	Growth abnormality	4125	MAN2B1	ORPHA:309282
HP:0001507	Growth abnormality	1742	DLG4	OMIM:618793
HP:0001507	Growth abnormality	55033	FKBP14	ORPHA:300179
HP:0001507	Growth abnormality	113189	CHST14	ORPHA:2953
HP:0001507	Growth abnormality	29940	DSE	ORPHA:2953
HP:0001507	Growth abnormality	79875	THSD4	OMIM:619825
HP:0001507	Growth abnormality	23395	LARS2	OMIM:615300
HP:0001507	Growth abnormality	4953	ODC1	OMIM:619075
HP:0001507	Growth abnormality	4953	ODC1	ORPHA:544488
HP:0001507	Growth abnormality	51604	PIGT	OMIM:615398
HP:0001507	Growth abnormality	274	BIN1	ORPHA:169189
HP:0001507	Growth abnormality	64419	MTMR14	ORPHA:169189
HP:0001507	Growth abnormality	4618	MYF6	ORPHA:169189
HP:0001507	Growth abnormality	1785	DNM2	ORPHA:169189
HP:0001507	Growth abnormality	10060	ABCC9	OMIM:239850
HP:0001507	Growth abnormality	288	ANK3	ORPHA:356996
HP:0001507	Growth abnormality	23556	PIGN	OMIM:614080
HP:0001507	Growth abnormality	7351	UCP2	ORPHA:276556
HP:0001507	Growth abnormality	346171	ZFP57	OMIM:601410
HP:0001507	Growth abnormality	7809	BSND	ORPHA:89938
HP:0001507	Growth abnormality	1188	CLCNKB	ORPHA:89938
HP:0001507	Growth abnormality	1187	CLCNKA	ORPHA:89938
HP:0001507	Growth abnormality	374879	ZNF699	OMIM:619488
HP:0001507	Growth abnormality	54941	RNF125	OMIM:616260
HP:0001507	Growth abnormality	146059	CDAN1	OMIM:224120
HP:0001507	Growth abnormality	9508	ADAMTS3	ORPHA:2136
HP:0001507	Growth abnormality	147372	CCBE1	ORPHA:2136
HP:0001507	Growth abnormality	147372	CCBE1	OMIM:235510
HP:0001507	Growth abnormality	90268	OTULIN	OMIM:617099
HP:0001507	Growth abnormality	3043	HBB	ORPHA:231214
HP:0001507	Growth abnormality	3043	HBB	ORPHA:231226
HP:0001507	Growth abnormality	368	ABCC6	ORPHA:51608
HP:0001507	Growth abnormality	5880	RAC2	OMIM:618987
HP:0001507	Growth abnormality	3032	HADHB	ORPHA:746
HP:0001507	Growth abnormality	3030	HADHA	ORPHA:746
HP:0001507	Growth abnormality	8405	SPOP	OMIM:618829
HP:0001507	Growth abnormality	2222	FDFT1	OMIM:618156
HP:0001507	Growth abnormality	4056	LTC4S	OMIM:614037
HP:0001507	Growth abnormality	3557	IL1RN	OMIM:612852
HP:0001507	Growth abnormality	3718	JAK3	ORPHA:35078
HP:0001507	Growth abnormality	1439	CSF2RB	ORPHA:264675
HP:0001507	Growth abnormality	1438	CSF2RA	ORPHA:264675
HP:0001507	Growth abnormality	7084	TK2	ORPHA:254875
HP:0001507	Growth abnormality	5699	PSMB10	OMIM:619175
HP:0001507	Growth abnormality	10463	SLC30A9	OMIM:617595
HP:0001507	Growth abnormality	8565	YARS1	OMIM:619418
HP:0001507	Growth abnormality	26007	TKFC	OMIM:618805
HP:0001507	Growth abnormality	3431	SP110	ORPHA:79124
HP:0001507	Growth abnormality	83480	PUS3	ORPHA:488627
HP:0001507	Growth abnormality	9377	COX5A	OMIM:619064
HP:0001507	Growth abnormality	56922	MCCC1	ORPHA:6
HP:0001507	Growth abnormality	64087	MCCC2	ORPHA:6
HP:0001507	Growth abnormality	29968	PSAT1	ORPHA:284417
HP:0001507	Growth abnormality	84842	HPDL	OMIM:619026
HP:0001507	Growth abnormality	56160	NSMCE3	OMIM:617241
HP:0001507	Growth abnormality	84342	COG8	OMIM:611182
HP:0001507	Growth abnormality	4654	MYOD1	OMIM:618975
HP:0001507	Growth abnormality	23495	TNFRSF13B	ORPHA:1572
HP:0001507	Growth abnormality	4790	NFKB1	ORPHA:1572
HP:0001507	Growth abnormality	4791	NFKB2	ORPHA:1572
HP:0001507	Growth abnormality	115650	TNFRSF13C	ORPHA:1572
HP:0001507	Growth abnormality	1380	CR2	ORPHA:1572
HP:0001507	Growth abnormality	8742	TNFSF12	ORPHA:1572
HP:0001507	Growth abnormality	5580	PRKCD	ORPHA:1572
HP:0001507	Growth abnormality	930	CD19	ORPHA:1572
HP:0001507	Growth abnormality	29851	ICOS	ORPHA:1572
HP:0001507	Growth abnormality	931	MS4A1	ORPHA:1572
HP:0001507	Growth abnormality	975	CD81	ORPHA:1572
HP:0001507	Growth abnormality	4841	NONO	ORPHA:466791
HP:0001507	Growth abnormality	4841	NONO	OMIM:300967
HP:0001507	Growth abnormality	1291	COL6A1	OMIM:254090
HP:0001507	Growth abnormality	1293	COL6A3	OMIM:254090
HP:0001507	Growth abnormality	390594	KBTBD13	ORPHA:171439
HP:0001507	Growth abnormality	4703	NEB	ORPHA:171439
HP:0001507	Growth abnormality	4703	NEB	OMIM:256030
HP:0001507	Growth abnormality	4703	NEB	ORPHA:399103
HP:0001507	Growth abnormality	10324	KLHL41	ORPHA:171439
HP:0001507	Growth abnormality	92335	STRADA	OMIM:611087
HP:0001507	Growth abnormality	23152	CIC	OMIM:617600
HP:0001507	Growth abnormality	6301	SARS1	OMIM:617709
HP:0001507	Growth abnormality	92609	TIMM50	ORPHA:505216
HP:0001507	Growth abnormality	3190	HNRNPK	ORPHA:453504
HP:0001507	Growth abnormality	3190	HNRNPK	ORPHA:352665
HP:0001507	Growth abnormality	23405	DICER1	OMIM:618272
HP:0001507	Growth abnormality	5296	PIK3R2	OMIM:603387
HP:0001507	Growth abnormality	54757	FAM20A	OMIM:204690
HP:0001507	Growth abnormality	10984	KCNQ1OT1	OMIM:130650
HP:0001507	Growth abnormality	3784	KCNQ1	OMIM:130650
HP:0001507	Growth abnormality	815	CAMK2A	OMIM:617798
HP:0001507	Growth abnormality	23229	ARHGEF9	OMIM:300607
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:397
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:117
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:29207
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:36426
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:3287
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:397
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:703
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:545
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:797
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:747
HP:0001507	Growth abnormality	3123	HLA-DRB1	OMIM:181000
HP:0001507	Growth abnormality	8974	P4HA2	ORPHA:397
HP:0001507	Growth abnormality	3064	HTT	ORPHA:399
HP:0001507	Growth abnormality	3064	HTT	ORPHA:248111
HP:0001507	Growth abnormality	6515	SLC2A3	ORPHA:399
HP:0001507	Growth abnormality	861	RUNX1	ORPHA:98850
HP:0001507	Growth abnormality	6427	SRSF2	ORPHA:98850
HP:0001507	Growth abnormality	6427	SRSF2	ORPHA:98849
HP:0001507	Growth abnormality	6622	SNCA	OMIM:605543
HP:0001507	Growth abnormality	6622	SNCA	ORPHA:411602
HP:0001507	Growth abnormality	3815	KIT	ORPHA:98849
HP:0001507	Growth abnormality	6556	SLC11A1	ORPHA:3389
HP:0001507	Growth abnormality	5314	PKHD1	ORPHA:53035
HP:0001507	Growth abnormality	4072	EPCAM	ORPHA:144
HP:0001507	Growth abnormality	4072	EPCAM	ORPHA:92050
HP:0001507	Growth abnormality	4292	MLH1	ORPHA:144
HP:0001507	Growth abnormality	5395	PMS2	ORPHA:144
HP:0001507	Growth abnormality	27030	MLH3	ORPHA:144
HP:0001507	Growth abnormality	22909	FAN1	ORPHA:144
HP:0001507	Growth abnormality	2956	MSH6	ORPHA:144
HP:0001507	Growth abnormality	5378	PMS1	ORPHA:144
HP:0001507	Growth abnormality	4436	MSH2	ORPHA:144
HP:0001507	Growth abnormality	1639	DCTN1	ORPHA:178509
HP:0001507	Growth abnormality	1639	DCTN1	OMIM:168605
HP:0001507	Growth abnormality	79577	CDC73	ORPHA:143
HP:0001507	Growth abnormality	6775	STAT4	ORPHA:85408
HP:0001507	Growth abnormality	6775	STAT4	ORPHA:117
HP:0001507	Growth abnormality	3560	IL2RB	ORPHA:85408
HP:0001507	Growth abnormality	79722	ANKRD55	ORPHA:85408
HP:0001507	Growth abnormality	919	CD247	ORPHA:85408
HP:0001507	Growth abnormality	3559	IL2RA	ORPHA:85408
HP:0001507	Growth abnormality	5771	PTPN2	ORPHA:85408
HP:0001507	Growth abnormality	64218	SEMA4A	ORPHA:440437
HP:0001507	Growth abnormality	6523	SLC5A1	ORPHA:35710
HP:0001507	Growth abnormality	9244	CRLF1	ORPHA:930
HP:0001507	Growth abnormality	4842	NOS1	ORPHA:930
HP:0001507	Growth abnormality	8029	CUBN	ORPHA:35858
HP:0001507	Growth abnormality	81693	AMN	ORPHA:35858
HP:0001507	Growth abnormality	105371045	PERCC1	ORPHA:92050
HP:0001507	Growth abnormality	2859	GPR35	ORPHA:171
HP:0001507	Growth abnormality	10507	SEMA4D	ORPHA:171
HP:0001507	Growth abnormality	4485	MST1	ORPHA:171
HP:0001507	Growth abnormality	7428	VHL	ORPHA:276621
HP:0001507	Growth abnormality	7428	VHL	ORPHA:29072
HP:0001507	Growth abnormality	2034	EPAS1	ORPHA:276621
HP:0001507	Growth abnormality	29967	LRP12	OMIM:164310
HP:0001507	Growth abnormality	55107	ANO1	OMIM:620045
HP:0001507	Growth abnormality	5621	PRNP	OMIM:600072
HP:0001507	Growth abnormality	5621	PRNP	ORPHA:157941
HP:0001507	Growth abnormality	5621	PRNP	OMIM:137440
HP:0001507	Growth abnormality	58	ACTA1	ORPHA:2020
HP:0001507	Growth abnormality	4633	MYL2	ORPHA:2020
HP:0001507	Growth abnormality	3679	ITGA7	ORPHA:2020
HP:0001507	Growth abnormality	9200	HACD1	ORPHA:2020
HP:0001507	Growth abnormality	7170	TPM3	ORPHA:2020
HP:0001507	Growth abnormality	51776	MAP3K20	ORPHA:2020
HP:0001507	Growth abnormality	64127	NOD2	OMIM:617321
HP:0001507	Growth abnormality	64127	NOD2	OMIM:266600
HP:0001507	Growth abnormality	1591	CYP24A1	OMIM:143880
HP:0001507	Growth abnormality	23230	VPS13A	ORPHA:2388
HP:0001507	Growth abnormality	57338	JPH3	ORPHA:98934
HP:0001507	Growth abnormality	57338	JPH3	OMIM:606438
HP:0001507	Growth abnormality	3492	IGH	ORPHA:52416
HP:0001507	Growth abnormality	3492	IGH	ORPHA:52417
HP:0001507	Growth abnormality	3492	IGH	ORPHA:545
HP:0001507	Growth abnormality	330	BIRC3	ORPHA:52417
HP:0001507	Growth abnormality	27086	FOXP1	ORPHA:52417
HP:0001507	Growth abnormality	8915	BCL10	ORPHA:52417
HP:0001507	Growth abnormality	1743	DLST	ORPHA:29072
HP:0001507	Growth abnormality	4191	MDH2	ORPHA:29072
HP:0001507	Growth abnormality	23095	KIF1B	ORPHA:29072
HP:0001507	Growth abnormality	23095	KIF1B	OMIM:256700
HP:0001507	Growth abnormality	2271	FH	ORPHA:29072
HP:0001507	Growth abnormality	8402	SLC25A11	ORPHA:29072
HP:0001507	Growth abnormality	54949	SDHAF2	ORPHA:29072
HP:0001507	Growth abnormality	55654	TMEM127	ORPHA:29072
HP:0001507	Growth abnormality	4149	MAX	ORPHA:29072
HP:0001507	Growth abnormality	1493	CTLA4	ORPHA:900
HP:0001507	Growth abnormality	3115	HLA-DPB1	ORPHA:900
HP:0001507	Growth abnormality	3115	HLA-DPB1	ORPHA:133
HP:0001507	Growth abnormality	5657	PRTN3	ORPHA:900
HP:0001507	Growth abnormality	3113	HLA-DPA1	ORPHA:900
HP:0001507	Growth abnormality	100134444	KCNJ18	ORPHA:79102
HP:0001507	Growth abnormality	100134444	KCNJ18	OMIM:613239
HP:0001507	Growth abnormality	2556	GABRA3	ORPHA:79102
HP:0001507	Growth abnormality	779	CACNA1S	ORPHA:79102
HP:0001507	Growth abnormality	779	CACNA1S	OMIM:188580
HP:0001507	Growth abnormality	2624	GATA2	ORPHA:3226
HP:0001507	Growth abnormality	7276	TTR	ORPHA:85447
HP:0001507	Growth abnormality	4665	NAB2	ORPHA:2126
HP:0001507	Growth abnormality	6778	STAT6	ORPHA:2126
HP:0001507	Growth abnormality	8314	BAP1	ORPHA:50251
HP:0001507	Growth abnormality	137682	NDUFAF6	ORPHA:3337
HP:0001507	Growth abnormality	38	ACAT1	ORPHA:134
HP:0001507	Growth abnormality	2153	F5	ORPHA:131
HP:0001507	Growth abnormality	11330	CTRC	ORPHA:103918
HP:0001507	Growth abnormality	6690	SPINK1	ORPHA:103918
HP:0001507	Growth abnormality	84868	HAVCR2	ORPHA:86884
HP:0001507	Growth abnormality	654	BMP6	ORPHA:465508
HP:0001507	Growth abnormality	3077	HFE	ORPHA:465508
HP:0001507	Growth abnormality	6583	SLC22A4	OMIM:180300
HP:0001507	Growth abnormality	4261	CIITA	OMIM:180300
HP:0001507	Growth abnormality	51744	CD244	OMIM:180300
HP:0001507	Growth abnormality	4795	NFKBIL1	OMIM:180300
HP:0001507	Growth abnormality	3586	IL10	OMIM:180300
HP:0001507	Growth abnormality	3586	IL10	ORPHA:117
HP:0001507	Growth abnormality	2000	ELF4	OMIM:301074
HP:0001507	Growth abnormality	1616	DAXX	ORPHA:100075
HP:0001507	Growth abnormality	56652	TWNK	OMIM:607459
HP:0001507	Growth abnormality	10568	SLC34A2	ORPHA:60025
HP:0001507	Growth abnormality	80025	PANK2	ORPHA:216866
HP:0001507	Growth abnormality	204	AK2	ORPHA:33355
HP:0001507	Growth abnormality	1288	COL4A6	ORPHA:1018
HP:0001507	Growth abnormality	1287	COL4A5	ORPHA:1018
HP:0001507	Growth abnormality	149233	IL23R	ORPHA:117
HP:0001507	Growth abnormality	4210	MEFV	ORPHA:117
HP:0001507	Growth abnormality	1230	CCR1	ORPHA:117
HP:0001507	Growth abnormality	3592	IL12A	ORPHA:117
HP:0001507	Growth abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0001507	Growth abnormality	7099	TLR4	ORPHA:117
HP:0001507	Growth abnormality	3459	IFNGR1	ORPHA:117
HP:0001507	Growth abnormality	3459	IFNGR1	OMIM:209950
HP:0001507	Growth abnormality	720	C4A	ORPHA:117
HP:0001507	Growth abnormality	337867	UBAC2	ORPHA:117
HP:0001507	Growth abnormality	51752	ERAP1	ORPHA:117
HP:0001507	Growth abnormality	8302	KLRC4	ORPHA:117
HP:0001507	Growth abnormality	3848	KRT1	ORPHA:312
HP:0001507	Growth abnormality	3155	HMGCL	ORPHA:20
HP:0001507	Growth abnormality	596	BCL2	ORPHA:545
HP:0001507	Growth abnormality	604	BCL6	ORPHA:545
HP:0001507	Growth abnormality	11200	CHEK2	ORPHA:668
HP:0001507	Growth abnormality	3767	KCNJ11	ORPHA:99885
HP:0001507	Growth abnormality	2645	GCK	ORPHA:99885
HP:0001507	Growth abnormality	3651	PDX1	ORPHA:99885
HP:0001507	Growth abnormality	6833	ABCC8	ORPHA:99885
HP:0001507	Growth abnormality	3630	INS	ORPHA:99885
HP:0001507	Growth abnormality	5978	REST	ORPHA:654
HP:0001507	Growth abnormality	10155	TRIM28	ORPHA:654
HP:0001507	Growth abnormality	11281	POU6F2	ORPHA:654
HP:0001507	Growth abnormality	10320	IKZF1	ORPHA:36426
HP:0001507	Growth abnormality	23317	DNAJC13	ORPHA:411602
HP:0001507	Growth abnormality	1981	EIF4G1	ORPHA:411602
HP:0001507	Growth abnormality	55737	VPS35	ORPHA:411602
HP:0001507	Growth abnormality	120892	LRRK2	ORPHA:411602
HP:0001507	Growth abnormality	26058	GIGYF2	ORPHA:411602
HP:0001507	Growth abnormality	3141	HLCS	ORPHA:79242
HP:0001507	Growth abnormality	3569	IL6	OMIM:266600
HP:0001507	Growth abnormality	285282	RABL3	ORPHA:1333
HP:0001507	Growth abnormality	23022	PALLD	ORPHA:1333
HP:0001507	Growth abnormality	56244	BTNL2	ORPHA:797
HP:0001507	Growth abnormality	10755	GIPC1	ORPHA:98897
HP:0001507	Growth abnormality	100996717	NOTCH2NLC	ORPHA:98897
HP:0001507	Growth abnormality	55898	UNC45A	OMIM:619377
HP:0001507	Growth abnormality	551	AVP	ORPHA:30925
HP:0001507	Growth abnormality	79651	RHBDF2	ORPHA:2198
HP:0001507	Growth abnormality	3593	IL12B	ORPHA:3287
HP:0001507	Growth abnormality	6945	MLX	ORPHA:3287
HP:0001507	Growth abnormality	6850	SYK	OMIM:619381
HP:0001507	Growth abnormality	5371	PML	ORPHA:520
HP:0001507	Growth abnormality	5914	RARA	ORPHA:520
HP:0001507	Growth abnormality	359948	IRF2BP2	ORPHA:520
HP:0001507	Growth abnormality	81608	FIP1L1	ORPHA:520
HP:0001507	Growth abnormality	64859	NABP1	ORPHA:520
HP:0001507	Growth abnormality	4926	NUMA1	ORPHA:520
HP:0001507	Growth abnormality	7704	ZBTB16	ORPHA:520
HP:0001507	Growth abnormality	83696	TRAPPC9	OMIM:613192
HP:0001507	Growth abnormality	3483	IGFALS	ORPHA:140941
HP:0001507	Growth abnormality	208	AKT2	ORPHA:293964
HP:0001507	Growth abnormality	208	AKT2	OMIM:240900
HP:0001507	Growth abnormality	51322	WAC	ORPHA:466950
HP:0001507	Growth abnormality	5718	PSMD12	ORPHA:529962
HP:0001507	Growth abnormality	2702	GJA5	OMIM:612474
HP:0001507	Growth abnormality	2703	GJA8	OMIM:612474
HP:0001507	Growth abnormality	54872	PIGG	ORPHA:280
HP:0001507	Growth abnormality	7469	NELFA	ORPHA:280
HP:0001507	Growth abnormality	90416	CCDC32	OMIM:619123
HP:0001507	Growth abnormality	168507	PKD1L1	OMIM:617205
HP:0001507	Growth abnormality	146845	CFAP52	OMIM:619607
HP:0001507	Growth abnormality	72	ACTG2	ORPHA:2604
HP:0001507	Growth abnormality	2302	FOXJ1	OMIM:618699
HP:0001507	Growth abnormality	220136	CFAP53	OMIM:614779
HP:0001507	Growth abnormality	2137	EXTL3	ORPHA:508533
HP:0001507	Growth abnormality	2137	EXTL3	OMIM:617425
HP:0001507	Growth abnormality	1795	DOCK3	OMIM:618292
HP:0001507	Growth abnormality	50515	CHST11	OMIM:618167
HP:0001507	Growth abnormality	2121	EVC	OMIM:193530
HP:0001507	Growth abnormality	2121	EVC	ORPHA:952
HP:0001507	Growth abnormality	132884	EVC2	OMIM:193530
HP:0001507	Growth abnormality	132884	EVC2	ORPHA:952
HP:0001507	Growth abnormality	6340	SCNN1G	ORPHA:171876
HP:0001507	Growth abnormality	6337	SCNN1A	ORPHA:171876
HP:0001507	Growth abnormality	6338	SCNN1B	ORPHA:171876
HP:0001507	Growth abnormality	7086	TKT	OMIM:617044
HP:0001507	Growth abnormality	7086	TKT	ORPHA:488618
HP:0001507	Growth abnormality	375056	MIA3	OMIM:619269
HP:0001507	Growth abnormality	4882	NPR2	OMIM:616255
HP:0001507	Growth abnormality	3033	HADH	ORPHA:71212
HP:0001507	Growth abnormality	2074	ERCC6	OMIM:133540
HP:0001507	Growth abnormality	2074	ERCC6	OMIM:278800
HP:0001507	Growth abnormality	286053	NSMCE2	OMIM:617253
HP:0001507	Growth abnormality	1280	COL2A1	ORPHA:93316
HP:0001507	Growth abnormality	1280	COL2A1	OMIM:184250
HP:0001507	Growth abnormality	118429	ANTXR2	ORPHA:2176
HP:0001507	Growth abnormality	55733	HHAT	OMIM:600092
HP:0001507	Growth abnormality	55733	HHAT	ORPHA:1422
HP:0001507	Growth abnormality	23363	OBSL1	OMIM:612921
HP:0001507	Growth abnormality	59341	TRPV4	ORPHA:93314
HP:0001507	Growth abnormality	59341	TRPV4	OMIM:156530
HP:0001507	Growth abnormality	59341	TRPV4	OMIM:168400
HP:0001507	Growth abnormality	59341	TRPV4	ORPHA:2635
HP:0001507	Growth abnormality	64220	STRA6	OMIM:601186
HP:0001507	Growth abnormality	2972	BRF1	ORPHA:444072
HP:0001507	Growth abnormality	2317	FLNB	OMIM:112310
HP:0001507	Growth abnormality	3313	HSPA9	OMIM:616854
HP:0001507	Growth abnormality	10908	PNPLA6	OMIM:275400
HP:0001507	Growth abnormality	10683	DLL3	OMIM:277300
HP:0001507	Growth abnormality	145873	MESP2	OMIM:277300
HP:0001507	Growth abnormality	5476	CTSA	OMIM:256540
HP:0001507	Growth abnormality	51360	MBTPS2	ORPHA:2273
HP:0001507	Growth abnormality	51360	MBTPS2	OMIM:301014
HP:0001507	Growth abnormality	23250	ATP11A	OMIM:619851
HP:0001507	Growth abnormality	6777	STAT5B	OMIM:245590
HP:0001507	Growth abnormality	55037	PTCD3	OMIM:619057
HP:0001507	Growth abnormality	2058	EPRS1	OMIM:617951
HP:0001507	Growth abnormality	64131	XYLT1	OMIM:615777
HP:0001507	Growth abnormality	64131	XYLT1	ORPHA:1425
HP:0001507	Growth abnormality	92344	GORAB	OMIM:231070
HP:0001507	Growth abnormality	92344	GORAB	ORPHA:2078
HP:0001507	Growth abnormality	2200	FBN1	ORPHA:969
HP:0001507	Growth abnormality	2200	FBN1	OMIM:102370
HP:0001507	Growth abnormality	4054	LTBP3	ORPHA:969
HP:0001507	Growth abnormality	9719	ADAMTSL2	ORPHA:1901
HP:0001507	Growth abnormality	9509	ADAMTS2	ORPHA:1901
HP:0001507	Growth abnormality	157570	ESCO2	ORPHA:2319
HP:0001507	Growth abnormality	5191	PEX7	OMIM:215100
HP:0001507	Growth abnormality	81620	CDT1	ORPHA:2554
HP:0001507	Growth abnormality	5000	ORC4	ORPHA:2554
HP:0001507	Growth abnormality	23594	ORC6	ORPHA:2554
HP:0001507	Growth abnormality	990	CDC6	ORPHA:2554
HP:0001507	Growth abnormality	4998	ORC1	ORPHA:2554
HP:0001507	Growth abnormality	51053	GMNN	ORPHA:2554
HP:0001507	Growth abnormality	51053	GMNN	OMIM:616835
HP:0001507	Growth abnormality	54539	NDUFB11	ORPHA:2556
HP:0001507	Growth abnormality	1349	COX7B	ORPHA:2556
HP:0001507	Growth abnormality	3052	HCCS	ORPHA:2556
HP:0001507	Growth abnormality	9401	RECQL4	OMIM:218600
HP:0001507	Growth abnormality	2688	GH1	OMIM:262400
HP:0001507	Growth abnormality	2688	GH1	OMIM:173100
HP:0001507	Growth abnormality	26175	LYSET	OMIM:619345
HP:0001507	Growth abnormality	1311	COMP	OMIM:132400
HP:0001507	Growth abnormality	51199	NIN	OMIM:614851
HP:0001507	Growth abnormality	6023	RMRP	OMIM:607095
HP:0001507	Growth abnormality	139285	AMER1	ORPHA:2780
HP:0001507	Growth abnormality	64374	SIL1	ORPHA:559
HP:0001507	Growth abnormality	51763	INPP5K	ORPHA:559
HP:0001507	Growth abnormality	6911	TBX6	OMIM:122600
HP:0001507	Growth abnormality	6911	TBX6	ORPHA:1797
HP:0001507	Growth abnormality	57167	SALL4	ORPHA:2307
HP:0001507	Growth abnormality	6885	MAP3K7	ORPHA:3238
HP:0001507	Growth abnormality	2261	FGFR3	OMIM:616482
HP:0001507	Growth abnormality	1857	DVL3	ORPHA:3107
HP:0001507	Growth abnormality	7474	WNT5A	ORPHA:3107
HP:0001507	Growth abnormality	1855	DVL1	ORPHA:3107
HP:0001507	Growth abnormality	2535	FZD2	ORPHA:3107
HP:0001507	Growth abnormality	9791	PTDSS1	ORPHA:2658
HP:0001507	Growth abnormality	65992	DDRGK1	ORPHA:93352
HP:0001507	Growth abnormality	6595	SMARCA2	ORPHA:3051
HP:0001507	Growth abnormality	1718	DHCR24	ORPHA:35107
HP:0001507	Growth abnormality	2692	GHRHR	OMIM:618157
HP:0001507	Growth abnormality	2690	GHR	OMIM:262500
HP:0001507	Growth abnormality	2690	GHR	ORPHA:633
HP:0001507	Growth abnormality	5130	PCYT1A	ORPHA:85167
HP:0001507	Growth abnormality	2260	FGFR1	ORPHA:2645
HP:0001507	Growth abnormality	2260	FGFR1	OMIM:166250
HP:0001507	Growth abnormality	3832	KIF11	ORPHA:2526
HP:0001507	Growth abnormality	124583	CANT1	OMIM:251450
HP:0001507	Growth abnormality	124583	CANT1	ORPHA:1425
HP:0001507	Growth abnormality	5295	PIK3R1	ORPHA:3163
HP:0001507	Growth abnormality	3423	IDS	OMIM:309900
HP:0001507	Growth abnormality	100151683	RNU4ATAC	ORPHA:2636
HP:0001507	Growth abnormality	6389	SDHA	ORPHA:3208
HP:0001507	Growth abnormality	6390	SDHB	ORPHA:3208
HP:0001507	Growth abnormality	6392	SDHD	ORPHA:3208
HP:0001507	Growth abnormality	644096	SDHAF1	ORPHA:3208
HP:0001507	Growth abnormality	6137	RPL13	OMIM:618728
HP:0001507	Growth abnormality	2720	GLB1	OMIM:230500
HP:0001507	Growth abnormality	4052	LTBP1	ORPHA:90349
HP:0001507	Growth abnormality	30008	EFEMP2	ORPHA:90349
HP:0001507	Growth abnormality	10516	FBLN5	ORPHA:90349
HP:0001507	Growth abnormality	5831	PYCR1	ORPHA:2078
HP:0001507	Growth abnormality	1836	SLC26A2	ORPHA:93298
HP:0001507	Growth abnormality	63901	FAM111A	OMIM:127000
HP:0001507	Growth abnormality	9321	TRIP11	ORPHA:93299
HP:0001507	Growth abnormality	23522	KAT6B	ORPHA:3047
HP:0001507	Growth abnormality	166929	SGMS2	OMIM:126550
HP:0001507	Growth abnormality	26123	TCTN3	ORPHA:2753
HP:0001507	Growth abnormality	55790	CSGALNACT1	ORPHA:1425
HP:0001507	Growth abnormality	6473	SHOX	ORPHA:2632
HP:0001507	Growth abnormality	1749	DLX5	OMIM:220600
HP:0001507	Growth abnormality	3636	INPPL1	ORPHA:2746
HP:0001507	Growth abnormality	25871	NEPRO	OMIM:618853
HP:0001507	Growth abnormality	63895	PIEZO2	ORPHA:2461
HP:0001507	Growth abnormality	1278	COL1A2	ORPHA:1899
HP:0001507	Growth abnormality	1277	COL1A1	ORPHA:1899
HP:0001507	Growth abnormality	54808	DYM	ORPHA:239
HP:0001507	Growth abnormality	4089	SMAD4	ORPHA:2588
HP:0001507	Growth abnormality	4534	MTM1	OMIM:310400
HP:0001507	Growth abnormality	153642	ARSK	OMIM:619698
HP:0001507	Growth abnormality	579	NKX3-2	OMIM:613330
HP:0001507	Growth abnormality	2588	GALNS	OMIM:253000
HP:0001507	Growth abnormality	168667	BMPER	OMIM:608022
HP:0001507	Growth abnormality	1968	EIF2S3	OMIM:300148
HP:0001507	Growth abnormality	55627	SMPD4	OMIM:618622
HP:0001507	Growth abnormality	3730	ANOS1	OMIM:308700
HP:0001507	Growth abnormality	2100	ESR2	OMIM:618187
HP:0001507	Growth abnormality	23394	ADNP	ORPHA:404448
HP:0001507	Growth abnormality	23394	ADNP	OMIM:615873
HP:0001507	Growth abnormality	55703	POLR3B	OMIM:614381
HP:0001507	Growth abnormality	55703	POLR3B	OMIM:607694
HP:0001507	Growth abnormality	1139	CHRNA7	ORPHA:199318
HP:0001507	Growth abnormality	8216	LZTR1	OMIM:616564
HP:0001507	Growth abnormality	8216	LZTR1	ORPHA:648
HP:0001507	Growth abnormality	8216	LZTR1	OMIM:605275
HP:0001507	Growth abnormality	6228	RPS23	OMIM:617412
HP:0001507	Growth abnormality	215	ABCD1	ORPHA:388
HP:0001507	Growth abnormality	5979	RET	ORPHA:388
HP:0001507	Growth abnormality	2668	GDNF	ORPHA:388
HP:0001507	Growth abnormality	6608	SMO	ORPHA:388
HP:0001507	Growth abnormality	6608	SMO	OMIM:241800
HP:0001507	Growth abnormality	1889	ECE1	ORPHA:388
HP:0001507	Growth abnormality	6720	SREBF1	ORPHA:388
HP:0001507	Growth abnormality	1908	EDN3	ORPHA:388
HP:0001507	Growth abnormality	223117	SEMA3D	ORPHA:388
HP:0001507	Growth abnormality	538	ATP7A	ORPHA:388
HP:0001507	Growth abnormality	538	ATP7A	OMIM:309400
HP:0001507	Growth abnormality	1910	EDNRB	ORPHA:388
HP:0001507	Growth abnormality	10512	SEMA3C	ORPHA:388
HP:0001507	Growth abnormality	2064	ERBB2	ORPHA:388
HP:0001507	Growth abnormality	2065	ERBB3	ORPHA:388
HP:0001507	Growth abnormality	4902	NRTN	ORPHA:388
HP:0001507	Growth abnormality	5932	RBBP8	OMIM:606744
HP:0001507	Growth abnormality	5932	RBBP8	ORPHA:808
HP:0001507	Growth abnormality	6729	SRP54	OMIM:618752
HP:0001507	Growth abnormality	6729	SRP54	ORPHA:811
HP:0001507	Growth abnormality	6729	SRP54	OMIM:260400
HP:0001507	Growth abnormality	166378	AFG2A	OMIM:616577
HP:0001507	Growth abnormality	1161	ERCC8	OMIM:216400
HP:0001507	Growth abnormality	1513	CTSK	OMIM:265800
HP:0001507	Growth abnormality	5832	ALDH18A1	OMIM:616586
HP:0001507	Growth abnormality	5832	ALDH18A1	ORPHA:447760
HP:0001507	Growth abnormality	5832	ALDH18A1	OMIM:601162
HP:0001507	Growth abnormality	5832	ALDH18A1	OMIM:219150
HP:0001507	Growth abnormality	6884	TAF13	OMIM:617432
HP:0001507	Growth abnormality	6884	TAF13	ORPHA:2512
HP:0001507	Growth abnormality	10111	RAD50	OMIM:613078
HP:0001507	Growth abnormality	7436	VLDLR	OMIM:224050
HP:0001507	Growth abnormality	7436	VLDLR	ORPHA:1766
HP:0001507	Growth abnormality	51109	RDH11	OMIM:616108
HP:0001507	Growth abnormality	51109	RDH11	ORPHA:436245
HP:0001507	Growth abnormality	171023	ASXL1	ORPHA:97297
HP:0001507	Growth abnormality	171023	ASXL1	OMIM:605039
HP:0001507	Growth abnormality	23312	DMXL2	OMIM:616113
HP:0001507	Growth abnormality	8036	SHOC2	ORPHA:2701
HP:0001507	Growth abnormality	8036	SHOC2	OMIM:607721
HP:0001507	Growth abnormality	5500	PPP1CB	ORPHA:2701
HP:0001507	Growth abnormality	5500	PPP1CB	OMIM:617506
HP:0001507	Growth abnormality	3340	NDST1	OMIM:616116
HP:0001507	Growth abnormality	4247	MGAT2	OMIM:212066
HP:0001507	Growth abnormality	54	ACP5	ORPHA:1855
HP:0001507	Growth abnormality	54	ACP5	OMIM:607944
HP:0001507	Growth abnormality	55131	RBM28	ORPHA:157954
HP:0001507	Growth abnormality	55131	RBM28	OMIM:612079
HP:0001507	Growth abnormality	79659	DYNC2H1	OMIM:613091
HP:0001507	Growth abnormality	79659	DYNC2H1	ORPHA:474
HP:0001507	Growth abnormality	11285	B4GALT7	OMIM:130070
HP:0001507	Growth abnormality	11285	B4GALT7	ORPHA:75496
HP:0001507	Growth abnormality	6772	STAT1	ORPHA:391487
HP:0001507	Growth abnormality	6772	STAT1	OMIM:614162
HP:0001507	Growth abnormality	10043	TOM1	ORPHA:391487
HP:0001507	Growth abnormality	8493	PPM1D	OMIM:617450
HP:0001507	Growth abnormality	5034	P4HB	OMIM:112240
HP:0001507	Growth abnormality	5034	P4HB	ORPHA:2050
HP:0001507	Growth abnormality	9354	UBE4A	OMIM:619639
HP:0001507	Growth abnormality	5604	MAP2K1	OMIM:615279
HP:0001507	Growth abnormality	5604	MAP2K1	ORPHA:1340
HP:0001507	Growth abnormality	5604	MAP2K1	OMIM:163950
HP:0001507	Growth abnormality	5593	PRKG2	OMIM:619636
HP:0001507	Growth abnormality	2736	GLI2	OMIM:610829
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:220386
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:280200
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93926
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93924
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93925
HP:0001507	Growth abnormality	2736	GLI2	OMIM:615849
HP:0001507	Growth abnormality	5605	MAP2K2	OMIM:615280
HP:0001507	Growth abnormality	5605	MAP2K2	ORPHA:638
HP:0001507	Growth abnormality	5605	MAP2K2	ORPHA:1340
HP:0001507	Growth abnormality	54828	BCAS3	OMIM:619641
HP:0001507	Growth abnormality	113179	ADAT3	OMIM:615286
HP:0001507	Growth abnormality	113179	ADAT3	ORPHA:363528
HP:0001507	Growth abnormality	50485	SMARCAL1	ORPHA:1830
HP:0001507	Growth abnormality	79971	WLS	OMIM:619648
HP:0001507	Growth abnormality	3373	HYAL1	OMIM:601492
HP:0001507	Growth abnormality	3373	HYAL1	ORPHA:67041
HP:0001507	Growth abnormality	25836	NIPBL	OMIM:122470
HP:0001507	Growth abnormality	25836	NIPBL	ORPHA:199
HP:0001507	Growth abnormality	23499	MACF1	OMIM:618325
HP:0001507	Growth abnormality	4087	SMAD2	OMIM:619657
HP:0001507	Growth abnormality	5836	PYGL	ORPHA:369
HP:0001507	Growth abnormality	79648	MCPH1	OMIM:251200
HP:0001507	Growth abnormality	79648	MCPH1	ORPHA:2512
HP:0001507	Growth abnormality	178	AGL	ORPHA:366
HP:0001507	Growth abnormality	178	AGL	OMIM:232400
HP:0001507	Growth abnormality	1523	CUX1	OMIM:618330
HP:0001507	Growth abnormality	5626	PROP1	ORPHA:90695
HP:0001507	Growth abnormality	5626	PROP1	OMIM:262600
HP:0001507	Growth abnormality	6658	SOX3	ORPHA:90695
HP:0001507	Growth abnormality	6658	SOX3	ORPHA:3157
HP:0001507	Growth abnormality	6658	SOX3	ORPHA:67045
HP:0001507	Growth abnormality	6658	SOX3	OMIM:300123
HP:0001507	Growth abnormality	7227	TRPS1	ORPHA:77258
HP:0001507	Growth abnormality	7227	TRPS1	OMIM:190350
HP:0001507	Growth abnormality	7227	TRPS1	OMIM:190351
HP:0001507	Growth abnormality	7227	TRPS1	ORPHA:502
HP:0001507	Growth abnormality	435	ASL	ORPHA:23
HP:0001507	Growth abnormality	7291	TWIST1	ORPHA:794
HP:0001507	Growth abnormality	7291	TWIST1	OMIM:101400
HP:0001507	Growth abnormality	2263	FGFR2	ORPHA:794
HP:0001507	Growth abnormality	2263	FGFR2	OMIM:101400
HP:0001507	Growth abnormality	4625	MYH7	ORPHA:324604
HP:0001507	Growth abnormality	4625	MYH7	OMIM:255160
HP:0001507	Growth abnormality	7273	TTN	ORPHA:324604
HP:0001507	Growth abnormality	4598	MVK	ORPHA:29
HP:0001507	Growth abnormality	4598	MVK	OMIM:610377
HP:0001507	Growth abnormality	89884	LHX4	OMIM:262700
HP:0001507	Growth abnormality	89884	LHX4	ORPHA:95496
HP:0001507	Growth abnormality	57122	NUP107	OMIM:618348
HP:0001507	Growth abnormality	57122	NUP107	ORPHA:243
HP:0001507	Growth abnormality	57122	NUP107	ORPHA:2065
HP:0001507	Growth abnormality	7681	MKRN3	OMIM:176270
HP:0001507	Growth abnormality	3653	IPW	OMIM:176270
HP:0001507	Growth abnormality	791114	PWRN1	OMIM:176270
HP:0001507	Growth abnormality	100033413	SNORD116-1	OMIM:176270
HP:0001507	Growth abnormality	8924	HERC2	OMIM:176270
HP:0001507	Growth abnormality	145624	PWAR1	OMIM:176270
HP:0001507	Growth abnormality	23742	NPAP1	OMIM:176270
HP:0001507	Growth abnormality	338433	SNORD115-1	OMIM:176270
HP:0001507	Growth abnormality	27125	AFF4	ORPHA:444077
HP:0001507	Growth abnormality	27125	AFF4	OMIM:616368
HP:0001507	Growth abnormality	55630	SLC39A4	ORPHA:37
HP:0001507	Growth abnormality	55630	SLC39A4	OMIM:201100
HP:0001507	Growth abnormality	55315	SLC29A3	OMIM:602782
HP:0001507	Growth abnormality	55315	SLC29A3	ORPHA:168569
HP:0001507	Growth abnormality	55315	SLC29A3	ORPHA:1782
HP:0001507	Growth abnormality	10733	PLK4	OMIM:616171
HP:0001507	Growth abnormality	10733	PLK4	ORPHA:808
HP:0001507	Growth abnormality	10733	PLK4	ORPHA:2518
HP:0001507	Growth abnormality	4967	OGDH	ORPHA:31
HP:0001507	Growth abnormality	11277	TREX1	OMIM:225750
HP:0001507	Growth abnormality	11277	TREX1	ORPHA:51
HP:0001507	Growth abnormality	1297	COL9A1	ORPHA:166002
HP:0001507	Growth abnormality	1297	COL9A1	ORPHA:250984
HP:0001507	Growth abnormality	1297	COL9A1	OMIM:614134
HP:0001507	Growth abnormality	1298	COL9A2	ORPHA:166002
HP:0001507	Growth abnormality	1298	COL9A2	OMIM:614284
HP:0001507	Growth abnormality	1298	COL9A2	ORPHA:250984
HP:0001507	Growth abnormality	1299	COL9A3	ORPHA:166002
HP:0001507	Growth abnormality	1299	COL9A3	ORPHA:250984
HP:0001507	Growth abnormality	1281	COL3A1	OMIM:130050
HP:0001507	Growth abnormality	1281	COL3A1	ORPHA:286
HP:0001507	Growth abnormality	1281	COL3A1	ORPHA:2500
HP:0001507	Growth abnormality	427	ASAH1	ORPHA:333
HP:0001507	Growth abnormality	55777	MBD5	OMIM:156200
HP:0001507	Growth abnormality	55777	MBD5	ORPHA:228402
HP:0001507	Growth abnormality	10588	MTHFS	OMIM:618367
HP:0001507	Growth abnormality	3549	IHH	ORPHA:63446
HP:0001507	Growth abnormality	3549	IHH	OMIM:112500
HP:0001507	Growth abnormality	3549	IHH	ORPHA:93388
HP:0001507	Growth abnormality	3549	IHH	OMIM:607778
HP:0001507	Growth abnormality	2334	AFF2	OMIM:309548
HP:0001507	Growth abnormality	2334	AFF2	ORPHA:100973
HP:0001507	Growth abnormality	84068	SLC10A7	OMIM:618363
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:63442
HP:0001507	Growth abnormality	8200	GDF5	OMIM:113100
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:93384
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:93388
HP:0001507	Growth abnormality	8200	GDF5	OMIM:615072
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:2639
HP:0001507	Growth abnormality	7468	NSD2	OMIM:619695
HP:0001507	Growth abnormality	7468	NSD2	OMIM:194190
HP:0001507	Growth abnormality	50945	TBX22	OMIM:302905
HP:0001507	Growth abnormality	50945	TBX22	ORPHA:921
HP:0001507	Growth abnormality	3054	HCFC1	OMIM:309541
HP:0001507	Growth abnormality	201163	FLCN	OMIM:610883
HP:0001507	Growth abnormality	2717	GLA	ORPHA:324
HP:0001507	Growth abnormality	2131	EXT1	ORPHA:321
HP:0001507	Growth abnormality	2131	EXT1	ORPHA:502
HP:0001507	Growth abnormality	2131	EXT1	OMIM:133700
HP:0001507	Growth abnormality	2132	EXT2	ORPHA:321
HP:0001507	Growth abnormality	2132	EXT2	OMIM:133701
HP:0001507	Growth abnormality	25778	DSTYK	ORPHA:101003
HP:0001507	Growth abnormality	3291	HSD11B2	ORPHA:320
HP:0001507	Growth abnormality	3291	HSD11B2	OMIM:218030
HP:0001507	Growth abnormality	23111	SPART	ORPHA:101000
HP:0001507	Growth abnormality	23111	SPART	OMIM:275900
HP:0001507	Growth abnormality	51729	WBP11	OMIM:619227
HP:0001507	Growth abnormality	2697	GJA1	ORPHA:317
HP:0001507	Growth abnormality	2697	GJA1	OMIM:257850
HP:0001507	Growth abnormality	2707	GJB3	ORPHA:317
HP:0001507	Growth abnormality	2531	KDSR	ORPHA:317
HP:0001507	Growth abnormality	127534	GJB4	ORPHA:317
HP:0001507	Growth abnormality	8883	NAE1	OMIM:620210
HP:0001507	Growth abnormality	55186	SLC25A36	OMIM:620211
HP:0001507	Growth abnormality	4763	NF1	ORPHA:97685
HP:0001507	Growth abnormality	4763	NF1	OMIM:193520
HP:0001507	Growth abnormality	4763	NF1	OMIM:601321
HP:0001507	Growth abnormality	4763	NF1	ORPHA:638
HP:0001507	Growth abnormality	4763	NF1	ORPHA:139474
HP:0001507	Growth abnormality	4763	NF1	ORPHA:363700
HP:0001507	Growth abnormality	4763	NF1	OMIM:162200
HP:0001507	Growth abnormality	151516	ASPRV1	ORPHA:313
HP:0001507	Growth abnormality	242	ALOX12B	ORPHA:313
HP:0001507	Growth abnormality	242	ALOX12B	ORPHA:79394
HP:0001507	Growth abnormality	126410	CYP4F22	ORPHA:313
HP:0001507	Growth abnormality	6820	SULT2B1	ORPHA:313
HP:0001507	Growth abnormality	26154	ABCA12	ORPHA:313
HP:0001507	Growth abnormality	26154	ABCA12	ORPHA:79394
HP:0001507	Growth abnormality	643418	LIPN	ORPHA:313
HP:0001507	Growth abnormality	59344	ALOXE3	ORPHA:313
HP:0001507	Growth abnormality	59344	ALOXE3	ORPHA:79394
HP:0001507	Growth abnormality	348938	NIPAL4	ORPHA:313
HP:0001507	Growth abnormality	348938	NIPAL4	ORPHA:79394
HP:0001507	Growth abnormality	121214	SDR9C7	ORPHA:313
HP:0001507	Growth abnormality	7051	TGM1	ORPHA:313
HP:0001507	Growth abnormality	7051	TGM1	ORPHA:79394
HP:0001507	Growth abnormality	9757	KMT2B	ORPHA:589618
HP:0001507	Growth abnormality	9757	KMT2B	OMIM:617284
HP:0001507	Growth abnormality	84265	POLR3GL	OMIM:619234
HP:0001507	Growth abnormality	134218	DNAJC21	OMIM:617052
HP:0001507	Growth abnormality	134218	DNAJC21	ORPHA:811
HP:0001507	Growth abnormality	134218	DNAJC21	OMIM:260400
HP:0001507	Growth abnormality	29927	SEC61A1	OMIM:617056
HP:0001507	Growth abnormality	92002	CCNQ	OMIM:300707
HP:0001507	Growth abnormality	92002	CCNQ	ORPHA:140952
HP:0001507	Growth abnormality	1041	CDSN	OMIM:270300
HP:0001507	Growth abnormality	10283	CWC27	ORPHA:166035
HP:0001507	Growth abnormality	10283	CWC27	OMIM:250410
HP:0001507	Growth abnormality	57477	SHROOM4	ORPHA:85288
HP:0001507	Growth abnormality	1289	COL5A1	OMIM:130000
HP:0001507	Growth abnormality	23233	EXOC6B	OMIM:618395
HP:0001507	Growth abnormality	23233	EXOC6B	ORPHA:93359
HP:0001507	Growth abnormality	8450	CUL4B	ORPHA:85293
HP:0001507	Growth abnormality	8450	CUL4B	OMIM:300354
HP:0001507	Growth abnormality	2799	GNS	OMIM:252940
HP:0001507	Growth abnormality	50964	SOST	OMIM:122860
HP:0001507	Growth abnormality	50964	SOST	ORPHA:1513
HP:0001507	Growth abnormality	7169	TPM2	OMIM:108120
HP:0001507	Growth abnormality	7169	TPM2	ORPHA:1147
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:772
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:44
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:912
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:772
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:44
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:912
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:772
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:44
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:912
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:772
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:44
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:912
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:772
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:3220
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:44
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:912
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:772
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:44
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:912
HP:0001507	Growth abnormality	5830	PEX5	ORPHA:772
HP:0001507	Growth abnormality	5830	PEX5	ORPHA:44
HP:0001507	Growth abnormality	5830	PEX5	OMIM:616716
HP:0001507	Growth abnormality	5830	PEX5	ORPHA:912
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:772
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:3220
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:44
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:912
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:772
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:44
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:912
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:772
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:44
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:912
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:772
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:44
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:912
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:772
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:44
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:912
HP:0001507	Growth abnormality	5339	PLEC	OMIM:226670
HP:0001507	Growth abnormality	89970	RSPRY1	ORPHA:457395
HP:0001507	Growth abnormality	89970	RSPRY1	OMIM:616723
HP:0001507	Growth abnormality	51594	NBAS	OMIM:614800
HP:0001507	Growth abnormality	54187	NANS	OMIM:610442
HP:0001507	Growth abnormality	84464	SLX4	OMIM:613951
HP:0001507	Growth abnormality	84464	SLX4	ORPHA:84
HP:0001507	Growth abnormality	284058	KANSL1	OMIM:610443
HP:0001507	Growth abnormality	64802	NMNAT1	OMIM:619260
HP:0001507	Growth abnormality	51626	DYNC2LI1	OMIM:617088
HP:0001507	Growth abnormality	51626	DYNC2LI1	ORPHA:474
HP:0001507	Growth abnormality	55181	SMG8	OMIM:619268
HP:0001507	Growth abnormality	5696	PSMB8	OMIM:256040
HP:0001507	Growth abnormality	26146	TRAF3IP1	ORPHA:3156
HP:0001507	Growth abnormality	9657	IQCB1	ORPHA:3156
HP:0001507	Growth abnormality	10806	SDCCAG8	ORPHA:3156
HP:0001507	Growth abnormality	10806	SDCCAG8	OMIM:615993
HP:0001507	Growth abnormality	10806	SDCCAG8	ORPHA:110
HP:0001507	Growth abnormality	27130	INVS	ORPHA:3156
HP:0001507	Growth abnormality	80184	CEP290	ORPHA:3156
HP:0001507	Growth abnormality	80184	CEP290	ORPHA:110
HP:0001507	Growth abnormality	4867	NPHP1	ORPHA:3156
HP:0001507	Growth abnormality	4867	NPHP1	ORPHA:110
HP:0001507	Growth abnormality	261734	NPHP4	ORPHA:3156
HP:0001507	Growth abnormality	57728	WDR19	ORPHA:3156
HP:0001507	Growth abnormality	57728	WDR19	OMIM:614378
HP:0001507	Growth abnormality	57728	WDR19	OMIM:614376
HP:0001507	Growth abnormality	57728	WDR19	ORPHA:474
HP:0001507	Growth abnormality	27031	NPHP3	ORPHA:3156
HP:0001507	Growth abnormality	22897	CEP164	ORPHA:3156
HP:0001507	Growth abnormality	6657	SOX2	ORPHA:3157
HP:0001507	Growth abnormality	6657	SOX2	OMIM:206900
HP:0001507	Growth abnormality	9915	ARNT2	ORPHA:3157
HP:0001507	Growth abnormality	9915	ARNT2	OMIM:615926
HP:0001507	Growth abnormality	8820	HESX1	ORPHA:3157
HP:0001507	Growth abnormality	8820	HESX1	ORPHA:95496
HP:0001507	Growth abnormality	8820	HESX1	OMIM:182230
HP:0001507	Growth abnormality	5015	OTX2	ORPHA:3157
HP:0001507	Growth abnormality	5015	OTX2	OMIM:610125
HP:0001507	Growth abnormality	5015	OTX2	OMIM:613986
HP:0001507	Growth abnormality	4053	LTBP2	OMIM:614819
HP:0001507	Growth abnormality	4053	LTBP2	ORPHA:3449
HP:0001507	Growth abnormality	374654	KIF7	ORPHA:166024
HP:0001507	Growth abnormality	374654	KIF7	ORPHA:2754
HP:0001507	Growth abnormality	128	ADH5	OMIM:619151
HP:0001507	Growth abnormality	6535	SLC6A8	OMIM:300352
HP:0001507	Growth abnormality	6535	SLC6A8	ORPHA:52503
HP:0001507	Growth abnormality	5885	RAD21	OMIM:614701
HP:0001507	Growth abnormality	5885	RAD21	ORPHA:199
HP:0001507	Growth abnormality	857	CAV1	OMIM:612526
HP:0001507	Growth abnormality	6165	RPL35A	OMIM:612528
HP:0001507	Growth abnormality	6165	RPL35A	ORPHA:124
HP:0001507	Growth abnormality	6218	RPS17	OMIM:612527
HP:0001507	Growth abnormality	6218	RPS17	ORPHA:124
HP:0001507	Growth abnormality	10093	ARPC4	OMIM:620141
HP:0001507	Growth abnormality	9496	TBX4	ORPHA:238578
HP:0001507	Growth abnormality	9496	TBX4	ORPHA:261279
HP:0001507	Growth abnormality	9496	TBX4	OMIM:147891
HP:0001507	Growth abnormality	613	BCR	ORPHA:261330
HP:0001507	Growth abnormality	1399	CRKL	ORPHA:261330
HP:0001507	Growth abnormality	5594	MAPK1	ORPHA:261330
HP:0001507	Growth abnormality	89910	UBE3B	OMIM:244450
HP:0001507	Growth abnormality	841	CASP8	OMIM:607271
HP:0001507	Growth abnormality	55788	LMBRD1	OMIM:277380
HP:0001507	Growth abnormality	224	ALDH3A2	ORPHA:816
HP:0001507	Growth abnormality	224	ALDH3A2	OMIM:270200
HP:0001507	Growth abnormality	2314	FLII	ORPHA:819
HP:0001507	Growth abnormality	23096	IQSEC2	ORPHA:819
HP:0001507	Growth abnormality	10522	DEAF1	ORPHA:819
HP:0001507	Growth abnormality	1717	DHCR7	ORPHA:818
HP:0001507	Growth abnormality	1717	DHCR7	OMIM:270400
HP:0001507	Growth abnormality	4758	NEU1	ORPHA:812
HP:0001507	Growth abnormality	4758	NEU1	OMIM:256550
HP:0001507	Growth abnormality	9382	COG1	OMIM:611209
HP:0001507	Growth abnormality	79631	EFL1	ORPHA:811
HP:0001507	Growth abnormality	79631	EFL1	OMIM:617941
HP:0001507	Growth abnormality	51119	SBDS	ORPHA:811
HP:0001507	Growth abnormality	51119	SBDS	OMIM:260400
HP:0001507	Growth abnormality	56992	KIF15	ORPHA:261323
HP:0001507	Growth abnormality	4001	LMNB1	OMIM:619179
HP:0001507	Growth abnormality	4001	LMNB1	ORPHA:2514
HP:0001507	Growth abnormality	1801	DPH1	OMIM:616901
HP:0001507	Growth abnormality	1801	DPH1	ORPHA:459061
HP:0001507	Growth abnormality	412	STS	ORPHA:281090
HP:0001507	Growth abnormality	55858	TMEM165	OMIM:614727
HP:0001507	Growth abnormality	80254	CEP63	OMIM:614728
HP:0001507	Growth abnormality	80254	CEP63	ORPHA:2512
HP:0001507	Growth abnormality	672	BRCA1	ORPHA:84
HP:0001507	Growth abnormality	672	BRCA1	OMIM:617883
HP:0001507	Growth abnormality	10459	MAD2L2	ORPHA:84
HP:0001507	Growth abnormality	10459	MAD2L2	OMIM:617243
HP:0001507	Growth abnormality	7516	XRCC2	ORPHA:84
HP:0001507	Growth abnormality	29089	UBE2T	ORPHA:84
HP:0001507	Growth abnormality	29089	UBE2T	OMIM:616435
HP:0001507	Growth abnormality	675	BRCA2	ORPHA:84
HP:0001507	Growth abnormality	675	BRCA2	OMIM:605724
HP:0001507	Growth abnormality	55120	FANCL	ORPHA:84
HP:0001507	Growth abnormality	2177	FANCD2	ORPHA:84
HP:0001507	Growth abnormality	2177	FANCD2	OMIM:227646
HP:0001507	Growth abnormality	2175	FANCA	ORPHA:84
HP:0001507	Growth abnormality	2175	FANCA	OMIM:227650
HP:0001507	Growth abnormality	2187	FANCB	ORPHA:84
HP:0001507	Growth abnormality	2176	FANCC	ORPHA:84
HP:0001507	Growth abnormality	2176	FANCC	OMIM:227645
HP:0001507	Growth abnormality	2178	FANCE	ORPHA:84
HP:0001507	Growth abnormality	2178	FANCE	OMIM:600901
HP:0001507	Growth abnormality	2188	FANCF	ORPHA:84
HP:0001507	Growth abnormality	2188	FANCF	OMIM:603467
HP:0001507	Growth abnormality	2189	FANCG	ORPHA:84
HP:0001507	Growth abnormality	5888	RAD51	ORPHA:84
HP:0001507	Growth abnormality	5889	RAD51C	ORPHA:84
HP:0001507	Growth abnormality	5889	RAD51C	OMIM:613390
HP:0001507	Growth abnormality	55159	RFWD3	ORPHA:84
HP:0001507	Growth abnormality	83990	BRIP1	ORPHA:84
HP:0001507	Growth abnormality	57697	FANCM	ORPHA:84
HP:0001507	Growth abnormality	79728	PALB2	ORPHA:84
HP:0001507	Growth abnormality	23116	TOGARAM1	OMIM:619185
HP:0001507	Growth abnormality	9184	BUB3	ORPHA:1052
HP:0001507	Growth abnormality	699	BUB1	ORPHA:1052
HP:0001507	Growth abnormality	9702	CEP57	ORPHA:1052
HP:0001507	Growth abnormality	9702	CEP57	OMIM:614114
HP:0001507	Growth abnormality	9319	TRIP13	ORPHA:1052
HP:0001507	Growth abnormality	9319	TRIP13	OMIM:617598
HP:0001507	Growth abnormality	701	BUB1B	ORPHA:1052
HP:0001507	Growth abnormality	701	BUB1B	OMIM:257300
HP:0001507	Growth abnormality	55148	UBR7	OMIM:619189
HP:0001507	Growth abnormality	23545	ATP6V0A2	OMIM:278250
HP:0001507	Growth abnormality	23545	ATP6V0A2	ORPHA:2834
HP:0001507	Growth abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0001507	Growth abnormality	25942	SIN3A	OMIM:613406
HP:0001507	Growth abnormality	25942	SIN3A	ORPHA:94065
HP:0001507	Growth abnormality	53834	FGFRL1	OMIM:194190
HP:0001507	Growth abnormality	1487	CTBP1	OMIM:194190
HP:0001507	Growth abnormality	3954	LETM1	OMIM:194190
HP:0001507	Growth abnormality	10815	CPLX1	OMIM:194190
HP:0001507	Growth abnormality	10801	SEPTIN9	OMIM:162100
HP:0001507	Growth abnormality	10801	SEPTIN9	ORPHA:2901
HP:0001507	Growth abnormality	7840	ALMS1	ORPHA:64
HP:0001507	Growth abnormality	7840	ALMS1	OMIM:203800
HP:0001507	Growth abnormality	7025	NR2F1	ORPHA:401777
HP:0001507	Growth abnormality	4318	MMP9	ORPHA:1040
HP:0001507	Growth abnormality	4322	MMP13	ORPHA:1040
HP:0001507	Growth abnormality	4322	MMP13	OMIM:250400
HP:0001507	Growth abnormality	114548	NLRP3	OMIM:191900
HP:0001507	Growth abnormality	114548	NLRP3	ORPHA:575
HP:0001507	Growth abnormality	6201	RPS7	OMIM:612563
HP:0001507	Growth abnormality	6201	RPS7	ORPHA:124
HP:0001507	Growth abnormality	6091	ROBO1	ORPHA:95496
HP:0001507	Growth abnormality	50937	CDON	ORPHA:95496
HP:0001507	Growth abnormality	50937	CDON	ORPHA:220386
HP:0001507	Growth abnormality	50937	CDON	ORPHA:280200
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93926
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93924
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93925
HP:0001507	Growth abnormality	23432	GPR161	ORPHA:95496
HP:0001507	Growth abnormality	11128	POLR3A	OMIM:264090
HP:0001507	Growth abnormality	11128	POLR3A	OMIM:607694
HP:0001507	Growth abnormality	11128	POLR3A	ORPHA:3455
HP:0001507	Growth abnormality	11128	POLR3A	ORPHA:447896
HP:0001507	Growth abnormality	8085	KMT2D	OMIM:620186
HP:0001507	Growth abnormality	8085	KMT2D	ORPHA:2322
HP:0001507	Growth abnormality	8085	KMT2D	OMIM:147920
HP:0001507	Growth abnormality	10907	TXNL4A	OMIM:608572
HP:0001507	Growth abnormality	10907	TXNL4A	ORPHA:1200
HP:0001507	Growth abnormality	55343	SLC35C1	OMIM:266265
HP:0001507	Growth abnormality	55343	SLC35C1	ORPHA:99843
HP:0001507	Growth abnormality	3251	HPRT1	OMIM:300322
HP:0001507	Growth abnormality	4256	MGP	ORPHA:85202
HP:0001507	Growth abnormality	23261	CAMTA1	OMIM:614756
HP:0001507	Growth abnormality	6605	SMARCE1	OMIM:616938
HP:0001507	Growth abnormality	388015	RTL1	ORPHA:96334
HP:0001507	Growth abnormality	388015	RTL1	ORPHA:96184
HP:0001507	Growth abnormality	8788	DLK1	ORPHA:96334
HP:0001507	Growth abnormality	8788	DLK1	ORPHA:96184
HP:0001507	Growth abnormality	55384	MEG3	ORPHA:96334
HP:0001507	Growth abnormality	55384	MEG3	ORPHA:96184
HP:0001507	Growth abnormality	1962	EHHADH	OMIM:615605
HP:0001507	Growth abnormality	695	BTK	ORPHA:47
HP:0001507	Growth abnormality	695	BTK	OMIM:307200
HP:0001507	Growth abnormality	415	ARSL	OMIM:302950
HP:0001507	Growth abnormality	3977	LIFR	ORPHA:3206
HP:0001507	Growth abnormality	3977	LIFR	OMIM:601559
HP:0001507	Growth abnormality	10735	STAG2	ORPHA:521258
HP:0001507	Growth abnormality	10735	STAG2	ORPHA:220386
HP:0001507	Growth abnormality	10735	STAG2	ORPHA:93925
HP:0001507	Growth abnormality	10735	STAG2	OMIM:301022
HP:0001507	Growth abnormality	6611	SMS	OMIM:309583
HP:0001507	Growth abnormality	6611	SMS	ORPHA:3063
HP:0001507	Growth abnormality	545	ATR	ORPHA:808
HP:0001507	Growth abnormality	1062	CENPE	ORPHA:808
HP:0001507	Growth abnormality	1062	CENPE	OMIM:616051
HP:0001507	Growth abnormality	5116	PCNT	ORPHA:808
HP:0001507	Growth abnormality	79902	NUP85	ORPHA:808
HP:0001507	Growth abnormality	79902	NUP85	OMIM:618176
HP:0001507	Growth abnormality	84126	ATRIP	ORPHA:808
HP:0001507	Growth abnormality	10293	TRAIP	ORPHA:808
HP:0001507	Growth abnormality	10293	TRAIP	OMIM:616777
HP:0001507	Growth abnormality	22995	CEP152	ORPHA:808
HP:0001507	Growth abnormality	22995	CEP152	OMIM:613823
HP:0001507	Growth abnormality	22995	CEP152	ORPHA:2512
HP:0001507	Growth abnormality	2961	GTF2E2	OMIM:616943
HP:0001507	Growth abnormality	84876	ORAI1	ORPHA:3204
HP:0001507	Growth abnormality	6786	STIM1	ORPHA:3204
HP:0001507	Growth abnormality	6786	STIM1	OMIM:185070
HP:0001507	Growth abnormality	6567	SLC16A2	ORPHA:59
HP:0001507	Growth abnormality	1186	CLCN7	ORPHA:53
HP:0001507	Growth abnormality	1186	CLCN7	OMIM:618541
HP:0001507	Growth abnormality	57724	EPG5	ORPHA:1493
HP:0001507	Growth abnormality	196528	ARID2	OMIM:617808
HP:0001507	Growth abnormality	10535	RNASEH2A	ORPHA:51
HP:0001507	Growth abnormality	84153	RNASEH2C	ORPHA:51
HP:0001507	Growth abnormality	25939	SAMHD1	ORPHA:51
HP:0001507	Growth abnormality	79621	RNASEH2B	ORPHA:51
HP:0001507	Growth abnormality	103	ADAR	ORPHA:51
HP:0001507	Growth abnormality	100147744	RNU7-1	ORPHA:51
HP:0001507	Growth abnormality	134353	LSM11	ORPHA:51
HP:0001507	Growth abnormality	10075	HUWE1	OMIM:309590
HP:0001507	Growth abnormality	22856	CHSY1	ORPHA:363417
HP:0001507	Growth abnormality	26160	IFT172	OMIM:615630
HP:0001507	Growth abnormality	26160	IFT172	ORPHA:110
HP:0001507	Growth abnormality	26160	IFT172	ORPHA:474
HP:0001507	Growth abnormality	84529	CDIN1	OMIM:615631
HP:0001507	Growth abnormality	2733	GLE1	ORPHA:1486
HP:0001507	Growth abnormality	29123	ANKRD11	ORPHA:2332
HP:0001507	Growth abnormality	29123	ANKRD11	OMIM:148050
HP:0001507	Growth abnormality	9759	HDAC4	ORPHA:1001
HP:0001507	Growth abnormality	9759	HDAC4	OMIM:600430
HP:0001507	Growth abnormality	79650	USB1	OMIM:604173
HP:0001507	Growth abnormality	79650	USB1	ORPHA:1775
HP:0001507	Growth abnormality	4010	LMX1B	OMIM:161200
HP:0001507	Growth abnormality	4010	LMX1B	ORPHA:2613
HP:0001507	Growth abnormality	9150	CTDP1	OMIM:604168
HP:0001507	Growth abnormality	9150	CTDP1	ORPHA:48431
HP:0001507	Growth abnormality	473	RERE	OMIM:616975
HP:0001507	Growth abnormality	473	RERE	ORPHA:1606
HP:0001507	Growth abnormality	6905	TBCE	ORPHA:2323
HP:0001507	Growth abnormality	7200	TRH	OMIM:275120
HP:0001507	Growth abnormality	54820	NDE1	OMIM:605013
HP:0001507	Growth abnormality	54820	NDE1	OMIM:614019
HP:0001507	Growth abnormality	9837	GINS1	OMIM:617827
HP:0001507	Growth abnormality	10651	MTX2	ORPHA:90153
HP:0001507	Growth abnormality	10651	MTX2	OMIM:619127
HP:0001507	Growth abnormality	10269	ZMPSTE24	ORPHA:90154
HP:0001507	Growth abnormality	5251	PHEX	OMIM:307800
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177904
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177901
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177910
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177907
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:98754
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177904
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177901
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177910
HP:0001507	Growth abnormality	4692	NDN	ORPHA:98754
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:177904
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:177901
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:98754
HP:0001507	Growth abnormality	1588	CYP19A1	OMIM:139300
HP:0001507	Growth abnormality	55906	ZC4H2	OMIM:314580
HP:0001507	Growth abnormality	55906	ZC4H2	OMIM:301041
HP:0001507	Growth abnormality	10560	SLC19A2	OMIM:249270
HP:0001507	Growth abnormality	10560	SLC19A2	ORPHA:49827
HP:0001507	Growth abnormality	2068	ERCC2	ORPHA:1466
HP:0001507	Growth abnormality	2068	ERCC2	ORPHA:220295
HP:0001507	Growth abnormality	2068	ERCC2	OMIM:601675
HP:0001507	Growth abnormality	2068	ERCC2	ORPHA:910
HP:0001507	Growth abnormality	2073	ERCC5	ORPHA:1466
HP:0001507	Growth abnormality	2073	ERCC5	ORPHA:220295
HP:0001507	Growth abnormality	2073	ERCC5	ORPHA:910
HP:0001507	Growth abnormality	4358	MPV17	OMIM:256810
HP:0001507	Growth abnormality	134701	RIPPLY2	ORPHA:2311
HP:0001507	Growth abnormality	3955	LFNG	ORPHA:2311
HP:0001507	Growth abnormality	3955	LFNG	OMIM:609813
HP:0001507	Growth abnormality	84667	HES7	ORPHA:2311
HP:0001507	Growth abnormality	84667	HES7	OMIM:613686
HP:0001507	Growth abnormality	79947	DHDDS	OMIM:617836
HP:0001507	Growth abnormality	79947	DHDDS	ORPHA:442835
HP:0001507	Growth abnormality	2138	EYA1	ORPHA:2792
HP:0001507	Growth abnormality	5075	PAX1	ORPHA:2792
HP:0001507	Growth abnormality	6678	SPARC	OMIM:616507
HP:0001507	Growth abnormality	10804	GJB6	OMIM:129500
HP:0001507	Growth abnormality	197131	UBR1	ORPHA:2315
HP:0001507	Growth abnormality	197131	UBR1	OMIM:243800
HP:0001507	Growth abnormality	4982	TNFRSF11B	OMIM:239000
HP:0001507	Growth abnormality	4982	TNFRSF11B	ORPHA:2801
HP:0001507	Growth abnormality	84188	FAR1	ORPHA:438178
HP:0001507	Growth abnormality	128637	TBC1D20	OMIM:615663
HP:0001507	Growth abnormality	128637	TBC1D20	ORPHA:2510
HP:0001507	Growth abnormality	79827	CLMP	ORPHA:2301
HP:0001507	Growth abnormality	860	RUNX2	ORPHA:1452
HP:0001507	Growth abnormality	860	RUNX2	OMIM:156510
HP:0001507	Growth abnormality	860	RUNX2	OMIM:119600
HP:0001507	Growth abnormality	26227	PHGDH	ORPHA:79351
HP:0001507	Growth abnormality	2313	FLI1	ORPHA:2308
HP:0001507	Growth abnormality	760	CA2	ORPHA:2785
HP:0001507	Growth abnormality	760	CA2	OMIM:259730
HP:0001507	Growth abnormality	9361	LONP1	ORPHA:1458
HP:0001507	Growth abnormality	9361	LONP1	OMIM:600373
HP:0001507	Growth abnormality	64840	PORCN	OMIM:305600
HP:0001507	Growth abnormality	131669	UROC1	OMIM:276880
HP:0001507	Growth abnormality	5352	PLOD2	ORPHA:2771
HP:0001507	Growth abnormality	5352	PLOD2	OMIM:609220
HP:0001507	Growth abnormality	60681	FKBP10	ORPHA:2771
HP:0001507	Growth abnormality	60681	FKBP10	OMIM:259450
HP:0001507	Growth abnormality	60681	FKBP10	OMIM:610968
HP:0001507	Growth abnormality	8022	LHX3	OMIM:221750
HP:0001507	Growth abnormality	8022	LHX3	ORPHA:231720
HP:0001507	Growth abnormality	284252	KCTD1	OMIM:181270
HP:0001507	Growth abnormality	122553	TRAPPC6B	OMIM:617862
HP:0001507	Growth abnormality	2893	GRIA4	OMIM:617864
HP:0001507	Growth abnormality	4094	MAF	OMIM:601088
HP:0001507	Growth abnormality	4094	MAF	ORPHA:1272
HP:0001507	Growth abnormality	7518	XRCC4	OMIM:616541
HP:0001507	Growth abnormality	650	BMP2	OMIM:617877
HP:0001507	Growth abnormality	650	BMP2	ORPHA:261295
HP:0001507	Growth abnormality	51099	ABHD5	ORPHA:98907
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:220386
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:280200
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93926
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93924
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93925
HP:0001507	Growth abnormality	8243	SMC1A	ORPHA:220386
HP:0001507	Growth abnormality	8243	SMC1A	OMIM:300590
HP:0001507	Growth abnormality	8243	SMC1A	ORPHA:199
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:220386
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:280200
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93926
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93924
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93925
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:220386
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:280200
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93926
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93924
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93925
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:220386
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:280200
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93926
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93924
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93925
HP:0001507	Growth abnormality	6469	SHH	ORPHA:220386
HP:0001507	Growth abnormality	6469	SHH	ORPHA:280200
HP:0001507	Growth abnormality	6469	SHH	OMIM:147250
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93926
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93924
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93925
HP:0001507	Growth abnormality	6469	SHH	ORPHA:988
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:220386
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:280200
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93926
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93924
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93925
HP:0001507	Growth abnormality	6491	STIL	ORPHA:220386
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93926
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93924
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93925
HP:0001507	Growth abnormality	6491	STIL	ORPHA:2512
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:220386
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:280200
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93926
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93924
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93925
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:220386
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:280200
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93926
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93924
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93925
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:220386
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:280200
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93926
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93924
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93925
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:220386
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:280200
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93926
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93924
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93925
HP:0001507	Growth abnormality	57104	PNPLA2	ORPHA:98908
HP:0001507	Growth abnormality	57104	PNPLA2	OMIM:610717
HP:0001507	Growth abnormality	84700	MYO18B	OMIM:616549
HP:0001507	Growth abnormality	5449	POU1F1	OMIM:613038
HP:0001507	Growth abnormality	4750	NEK1	ORPHA:2751
HP:0001507	Growth abnormality	8086	AAAS	OMIM:231550
HP:0001507	Growth abnormality	8086	AAAS	ORPHA:869
HP:0001507	Growth abnormality	10210	TOPORS	ORPHA:2754
HP:0001507	Growth abnormality	9851	KIAA0753	ORPHA:2754
HP:0001507	Growth abnormality	9851	KIAA0753	OMIM:619476
HP:0001507	Growth abnormality	5147	PDE6D	ORPHA:2754
HP:0001507	Growth abnormality	65250	CPLANE1	ORPHA:2754
HP:0001507	Growth abnormality	65250	CPLANE1	OMIM:277170
HP:0001507	Growth abnormality	51259	TMEM216	ORPHA:2754
HP:0001507	Growth abnormality	8481	OFD1	ORPHA:2754
HP:0001507	Growth abnormality	8481	OFD1	OMIM:311200
HP:0001507	Growth abnormality	317662	FAM149B1	ORPHA:2754
HP:0001507	Growth abnormality	6609	SMPD1	OMIM:607616
HP:0001507	Growth abnormality	6609	SMPD1	OMIM:257200
HP:0001507	Growth abnormality	6609	SMPD1	ORPHA:77293
HP:0001507	Growth abnormality	7471	WNT1	OMIM:615220
HP:0001507	Growth abnormality	80169	CTC1	OMIM:612199
HP:0001507	Growth abnormality	80169	CTC1	ORPHA:1775
HP:0001507	Growth abnormality	8626	TP63	ORPHA:1896
HP:0001507	Growth abnormality	8626	TP63	OMIM:129400
HP:0001507	Growth abnormality	10736	SIX2	ORPHA:488437
HP:0001507	Growth abnormality	4281	MID1	ORPHA:2745
HP:0001507	Growth abnormality	6655	SOS2	OMIM:616559
HP:0001507	Growth abnormality	6655	SOS2	ORPHA:648
HP:0001507	Growth abnormality	204219	CERS3	ORPHA:79394
HP:0001507	Growth abnormality	285848	PNPLA1	ORPHA:79394
HP:0001507	Growth abnormality	255758	DYNLT2B	OMIM:617405
HP:0001507	Growth abnormality	246329	STAC3	OMIM:255995
HP:0001507	Growth abnormality	246329	STAC3	ORPHA:168572
HP:0001507	Growth abnormality	3762	KCNJ5	ORPHA:37553
HP:0001507	Growth abnormality	3759	KCNJ2	ORPHA:37553
HP:0001507	Growth abnormality	3759	KCNJ2	OMIM:170390
HP:0001507	Growth abnormality	1497	CTNS	OMIM:219800
HP:0001507	Growth abnormality	10617	STAMBP	OMIM:614261
HP:0001507	Growth abnormality	8367	H4C5	OMIM:619950
HP:0001507	Growth abnormality	23417	MLYCD	OMIM:248360
HP:0001507	Growth abnormality	64682	ANAPC1	OMIM:618625
HP:0001507	Growth abnormality	64682	ANAPC1	ORPHA:221008
HP:0001507	Growth abnormality	755	CFAP410	OMIM:602271
HP:0001507	Growth abnormality	755	CFAP410	OMIM:617547
HP:0001507	Growth abnormality	4047	LSS	ORPHA:2850
HP:0001507	Growth abnormality	197	AHSG	ORPHA:2850
HP:0001507	Growth abnormality	3694	ITGB6	ORPHA:2850
HP:0001507	Growth abnormality	79848	CSPP1	ORPHA:397715
HP:0001507	Growth abnormality	9786	KIAA0586	ORPHA:397715
HP:0001507	Growth abnormality	114803	MYSM1	ORPHA:508542
HP:0001507	Growth abnormality	114803	MYSM1	OMIM:618116
HP:0001507	Growth abnormality	1528	CYB5A	ORPHA:90796
HP:0001507	Growth abnormality	1586	CYP17A1	ORPHA:90796
HP:0001507	Growth abnormality	1028	CDKN1C	ORPHA:436144
HP:0001507	Growth abnormality	526	ATP6V1B2	OMIM:616455
HP:0001507	Growth abnormality	10730	YME1L1	OMIM:617302
HP:0001507	Growth abnormality	7486	WRN	OMIM:277700
HP:0001507	Growth abnormality	7486	WRN	ORPHA:902
HP:0001507	Growth abnormality	1584	CYP11B1	ORPHA:90795
HP:0001507	Growth abnormality	1584	CYP11B1	OMIM:202010
HP:0001507	Growth abnormality	51684	SUFU	ORPHA:280200
HP:0001507	Growth abnormality	60561	RINT1	OMIM:618641
HP:0001507	Growth abnormality	10584	COLEC10	OMIM:248340
HP:0001507	Growth abnormality	91869	RFT1	ORPHA:244310
HP:0001507	Growth abnormality	91869	RFT1	OMIM:612015
HP:0001507	Growth abnormality	816	CAMK2B	OMIM:617799
HP:0001507	Growth abnormality	55699	IARS2	ORPHA:436174
HP:0001507	Growth abnormality	55699	IARS2	OMIM:616007
HP:0001507	Growth abnormality	79184	BRCC3	ORPHA:280679
HP:0001507	Growth abnormality	2626	GATA4	ORPHA:251071
HP:0001507	Growth abnormality	5354	PLP1	ORPHA:280210
HP:0001507	Growth abnormality	5354	PLP1	OMIM:312080
HP:0001507	Growth abnormality	1501	CTNND2	ORPHA:281
HP:0001507	Growth abnormality	9037	SEMA5A	ORPHA:281
HP:0001507	Growth abnormality	497661	C18orf32	OMIM:619985
HP:0001507	Growth abnormality	26057	ANKRD17	OMIM:619504
HP:0001507	Growth abnormality	3737	KCNA2	ORPHA:442835
HP:0001507	Growth abnormality	1759	DNM1	ORPHA:442835
HP:0001507	Growth abnormality	8120	AP3B2	ORPHA:442835
HP:0001507	Growth abnormality	523	ATP6V1A	ORPHA:442835
HP:0001507	Growth abnormality	523	ATP6V1A	ORPHA:357074
HP:0001507	Growth abnormality	10991	SLC38A3	ORPHA:442835
HP:0001507	Growth abnormality	51343	FZR1	ORPHA:442835
HP:0001507	Growth abnormality	22906	TRAK1	ORPHA:442835
HP:0001507	Growth abnormality	2566	GABRG2	ORPHA:442835
HP:0001507	Growth abnormality	1917	EEF1A2	ORPHA:442835
HP:0001507	Growth abnormality	2561	GABRB2	ORPHA:442835
HP:0001507	Growth abnormality	8831	SYNGAP1	ORPHA:442835
HP:0001507	Growth abnormality	7532	YWHAG	ORPHA:442835
HP:0001507	Growth abnormality	79876	UBA5	ORPHA:442835
HP:0001507	Growth abnormality	79876	UBA5	OMIM:617132
HP:0001507	Growth abnormality	6328	SCN3A	ORPHA:442835
HP:0001507	Growth abnormality	2558	GABRA5	ORPHA:442835
HP:0001507	Growth abnormality	781	CACNA2D1	ORPHA:442835
HP:0001507	Growth abnormality	2906	GRIN2D	ORPHA:442835
HP:0001507	Growth abnormality	116150	NUS1	ORPHA:442835
HP:0001507	Growth abnormality	10659	CELF2	ORPHA:442835
HP:0001507	Growth abnormality	774	CACNA1B	ORPHA:442835
HP:0001507	Growth abnormality	1213	CLTC	ORPHA:442835
HP:0001507	Growth abnormality	51741	WWOX	ORPHA:442835
HP:0001507	Growth abnormality	23334	SZT2	ORPHA:442835
HP:0001507	Growth abnormality	51412	ACTL6B	ORPHA:442835
HP:0001507	Growth abnormality	348980	HCN1	ORPHA:442835
HP:0001507	Growth abnormality	6506	SLC1A2	ORPHA:442835
HP:0001507	Growth abnormality	8867	SYNJ1	ORPHA:442835
HP:0001507	Growth abnormality	2258	FGF13	ORPHA:442835
HP:0001507	Growth abnormality	477	ATP1A2	ORPHA:442835
HP:0001507	Growth abnormality	3745	KCNB1	ORPHA:442835
HP:0001507	Growth abnormality	284111	SLC13A5	ORPHA:442835
HP:0001507	Growth abnormality	284111	SLC13A5	ORPHA:1946
HP:0001507	Growth abnormality	25977	NECAP1	ORPHA:442835
HP:0001507	Growth abnormality	16	AARS1	ORPHA:442835
HP:0001507	Growth abnormality	16	AARS1	OMIM:616339
HP:0001507	Growth abnormality	6334	SCN8A	ORPHA:442835
HP:0001507	Growth abnormality	22866	CNKSR2	ORPHA:442835
HP:0001507	Growth abnormality	9568	GABBR2	ORPHA:442835
HP:0001507	Growth abnormality	2555	GABRA2	ORPHA:442835
HP:0001507	Growth abnormality	55152	DALRD3	ORPHA:442835
HP:0001507	Growth abnormality	773	CACNA1A	ORPHA:442835
HP:0001507	Growth abnormality	26999	CYFIP2	ORPHA:442835
HP:0001507	Growth abnormality	4915	NTRK2	ORPHA:442835
HP:0001507	Growth abnormality	25973	PARS2	ORPHA:442835
HP:0001507	Growth abnormality	23097	CDK19	ORPHA:442835
HP:0001507	Growth abnormality	64801	ARV1	ORPHA:442835
HP:0001507	Growth abnormality	2257	FGF12	ORPHA:442835
HP:0001507	Growth abnormality	478	ATP1A3	ORPHA:442835
HP:0001507	Growth abnormality	55623	THUMPD1	OMIM:619989
HP:0001507	Growth abnormality	3476	IGBP1	ORPHA:52055
HP:0001507	Growth abnormality	3476	IGBP1	OMIM:300472
HP:0001507	Growth abnormality	3981	LIG4	ORPHA:235
HP:0001507	Growth abnormality	54888	NSUN2	ORPHA:235
HP:0001507	Growth abnormality	54888	NSUN2	OMIM:611091
HP:0001507	Growth abnormality	253738	EBF3	OMIM:617330
HP:0001507	Growth abnormality	56006	SMG9	OMIM:619995
HP:0001507	Growth abnormality	85301	COL27A1	OMIM:615155
HP:0001507	Growth abnormality	7862	BRPF1	OMIM:617333
HP:0001507	Growth abnormality	9453	GGPS1	OMIM:619518
HP:0001507	Growth abnormality	286	ANK1	ORPHA:251066
HP:0001507	Growth abnormality	554	AVPR2	ORPHA:223
HP:0001507	Growth abnormality	554	AVPR2	OMIM:304800
HP:0001507	Growth abnormality	359	AQP2	ORPHA:223
HP:0001507	Growth abnormality	359	AQP2	OMIM:125800
HP:0001507	Growth abnormality	26137	ZBTB20	OMIM:259050
HP:0001507	Growth abnormality	26137	ZBTB20	ORPHA:3042
HP:0001507	Growth abnormality	7750	ZMYM2	OMIM:619522
HP:0001507	Growth abnormality	8792	TNFRSF11A	ORPHA:2801
HP:0001507	Growth abnormality	8792	TNFRSF11A	ORPHA:1782
HP:0001507	Growth abnormality	57492	ARID1B	ORPHA:251056
HP:0001507	Growth abnormality	57492	ARID1B	OMIM:135900
HP:0001507	Growth abnormality	4626	MYH8	OMIM:158300
HP:0001507	Growth abnormality	4626	MYH8	ORPHA:3377
HP:0001507	Growth abnormality	3835	KIF22	OMIM:603546
HP:0001507	Growth abnormality	3835	KIF22	ORPHA:93360
HP:0001507	Growth abnormality	79989	IFT56	OMIM:619534
HP:0001507	Growth abnormality	9922	IQSEC1	OMIM:618687
HP:0001507	Growth abnormality	4193	MDM2	OMIM:618681
HP:0001507	Growth abnormality	84522	JAGN1	OMIM:616022
HP:0001507	Growth abnormality	57479	PRR12	OMIM:619539
HP:0001507	Growth abnormality	79977	GRHL2	OMIM:616029
HP:0001507	Growth abnormality	79641	ROGDI	ORPHA:1946
HP:0001507	Growth abnormality	29893	PSMC3IP	ORPHA:243
HP:0001507	Growth abnormality	171568	POLR3H	ORPHA:243
HP:0001507	Growth abnormality	2516	NR5A1	ORPHA:243
HP:0001507	Growth abnormality	125150	ZSWIM7	ORPHA:243
HP:0001507	Growth abnormality	9210	BMP15	ORPHA:243
HP:0001507	Growth abnormality	23514	SPIDR	ORPHA:243
HP:0001507	Growth abnormality	2492	FSHR	ORPHA:243
HP:0001507	Growth abnormality	56945	MRPS22	ORPHA:243
HP:0001507	Growth abnormality	646	BNC1	ORPHA:243
HP:0001507	Growth abnormality	10058	ABCB6	ORPHA:241
HP:0001507	Growth abnormality	6261	RYR1	OMIM:619542
HP:0001507	Growth abnormality	8621	CDK13	OMIM:617360
HP:0001507	Growth abnormality	6654	SOS1	OMIM:610733
HP:0001507	Growth abnormality	6654	SOS1	ORPHA:648
HP:0001507	Growth abnormality	8803	SUCLA2	ORPHA:1933
HP:0001507	Growth abnormality	8803	SUCLA2	OMIM:612073
HP:0001507	Growth abnormality	2737	GLI3	ORPHA:672
HP:0001507	Growth abnormality	2737	GLI3	OMIM:146510
HP:0001507	Growth abnormality	5076	PAX2	ORPHA:97362
HP:0001507	Growth abnormality	5076	PAX2	OMIM:120330
HP:0001507	Growth abnormality	5087	PBX1	ORPHA:97362
HP:0001507	Growth abnormality	10466	COG5	ORPHA:263487
HP:0001507	Growth abnormality	10466	COG5	OMIM:613612
HP:0001507	Growth abnormality	6909	TBX2	OMIM:618223
HP:0001507	Growth abnormality	55628	ZNF407	OMIM:619557
HP:0001507	Growth abnormality	58484	NLRC4	OMIM:616050
HP:0001507	Growth abnormality	55869	HDAC8	OMIM:300882
HP:0001507	Growth abnormality	55869	HDAC8	ORPHA:3459
HP:0001507	Growth abnormality	55869	HDAC8	ORPHA:199
HP:0001507	Growth abnormality	1301	COL11A1	OMIM:604841
HP:0001507	Growth abnormality	1301	COL11A1	ORPHA:2021
HP:0001507	Growth abnormality	1301	COL11A1	ORPHA:250984
HP:0001507	Growth abnormality	1301	COL11A1	ORPHA:560
HP:0001507	Growth abnormality	1301	COL11A1	OMIM:154780
HP:0001507	Growth abnormality	1387	CREBBP	ORPHA:353281
HP:0001507	Growth abnormality	1387	CREBBP	ORPHA:353277
HP:0001507	Growth abnormality	1387	CREBBP	OMIM:180849
HP:0001507	Growth abnormality	9342	SNAP29	ORPHA:66631
HP:0001507	Growth abnormality	79048	SECISBP2	ORPHA:171706
HP:0001507	Growth abnormality	79048	SECISBP2	OMIM:609698
HP:0001507	Growth abnormality	23314	SATB2	ORPHA:251019
HP:0001507	Growth abnormality	23314	SATB2	OMIM:612313
HP:0001507	Growth abnormality	2033	EP300	ORPHA:353284
HP:0001507	Growth abnormality	2033	EP300	OMIM:613684
HP:0001507	Growth abnormality	2033	EP300	OMIM:180849
HP:0001507	Growth abnormality	26128	KIFBP	ORPHA:66629
HP:0001507	Growth abnormality	2710	GK	OMIM:307030
HP:0001507	Growth abnormality	9126	SMC3	OMIM:610759
HP:0001507	Growth abnormality	9126	SMC3	ORPHA:199
HP:0001507	Growth abnormality	57551	TAOK1	OMIM:619575
HP:0001507	Growth abnormality	10940	POP1	OMIM:617396
HP:0001507	Growth abnormality	56915	EXOSC5	OMIM:619576
HP:0001507	Growth abnormality	8260	NAA10	OMIM:300855
HP:0001507	Growth abnormality	8260	NAA10	ORPHA:568
HP:0001507	Growth abnormality	9820	CUL7	OMIM:273750
HP:0001507	Growth abnormality	9820	CUL7	ORPHA:2616
HP:0001507	Growth abnormality	23203	PMPCA	OMIM:213200
HP:0001507	Growth abnormality	23203	PMPCA	ORPHA:1170
HP:0001507	Growth abnormality	10483	SEC23B	ORPHA:201
HP:0001507	Growth abnormality	5728	PTEN	ORPHA:201
HP:0001507	Growth abnormality	5728	PTEN	ORPHA:79076
HP:0001507	Growth abnormality	5728	PTEN	ORPHA:109
HP:0001507	Growth abnormality	6391	SDHC	ORPHA:201
HP:0001507	Growth abnormality	207	AKT1	ORPHA:201
HP:0001507	Growth abnormality	205717	USF3	ORPHA:201
HP:0001507	Growth abnormality	5290	PIK3CA	ORPHA:201
HP:0001507	Growth abnormality	100144748	KLLN	ORPHA:201
HP:0001507	Growth abnormality	10013	HDAC6	OMIM:300863
HP:0001507	Growth abnormality	10013	HDAC6	ORPHA:163966
HP:0001507	Growth abnormality	23384	SPECC1L	OMIM:145420
HP:0001507	Growth abnormality	4990	SIX6	OMIM:206900
HP:0001507	Growth abnormality	1300	COL10A1	OMIM:156500
HP:0001507	Growth abnormality	3975	LHX1	ORPHA:261265
HP:0001507	Growth abnormality	6928	HNF1B	ORPHA:261265
HP:0001507	Growth abnormality	10847	SRCAP	OMIM:619595
HP:0001507	Growth abnormality	10847	SRCAP	ORPHA:2044
HP:0001507	Growth abnormality	10847	SRCAP	OMIM:136140
HP:0001507	Growth abnormality	400916	CHCHD10	ORPHA:457050
HP:0001507	Growth abnormality	400916	CHCHD10	OMIM:616209
HP:0001507	Growth abnormality	6513	SLC2A1	ORPHA:168577
HP:0001507	Growth abnormality	6513	SLC2A1	OMIM:608885
HP:0001507	Growth abnormality	79809	TTC21B	OMIM:613819
HP:0001507	Growth abnormality	79809	TTC21B	ORPHA:474
HP:0001507	Growth abnormality	22983	MAST1	OMIM:618273
HP:0001507	Growth abnormality	55755	CDK5RAP2	OMIM:604804
HP:0001507	Growth abnormality	55755	CDK5RAP2	ORPHA:2512
HP:0001507	Growth abnormality	28956	LAMTOR2	OMIM:610798
HP:0001507	Growth abnormality	28956	LAMTOR2	ORPHA:90023
HP:0001507	Growth abnormality	118924	FRA10AC1	OMIM:620113
HP:0001507	Growth abnormality	4148	MATN3	OMIM:607078
HP:0001507	Growth abnormality	4148	MATN3	ORPHA:156728
HP:0001507	Growth abnormality	9895	TECPR2	ORPHA:320385
HP:0001507	Growth abnormality	9895	TECPR2	OMIM:615031
HP:0001507	Growth abnormality	23259	DDHD2	ORPHA:320380
HP:0001507	Growth abnormality	23259	DDHD2	OMIM:615033
HP:0001507	Growth abnormality	22800	RRAS2	ORPHA:648
HP:0001507	Growth abnormality	867	CBL	ORPHA:648
HP:0001507	Growth abnormality	867	CBL	OMIM:613563
HP:0001507	Growth abnormality	6016	RIT1	ORPHA:648
HP:0001507	Growth abnormality	6016	RIT1	OMIM:615355
HP:0001507	Growth abnormality	6237	RRAS	ORPHA:648
HP:0001507	Growth abnormality	5894	RAF1	ORPHA:648
HP:0001507	Growth abnormality	5894	RAF1	OMIM:611554
HP:0001507	Growth abnormality	5894	RAF1	OMIM:611553
HP:0001507	Growth abnormality	5894	RAF1	ORPHA:500
HP:0001507	Growth abnormality	22808	MRAS	ORPHA:648
HP:0001507	Growth abnormality	22808	MRAS	OMIM:618499
HP:0001507	Growth abnormality	3845	KRAS	ORPHA:648
HP:0001507	Growth abnormality	3845	KRAS	OMIM:163200
HP:0001507	Growth abnormality	3845	KRAS	ORPHA:1340
HP:0001507	Growth abnormality	3845	KRAS	OMIM:609942
HP:0001507	Growth abnormality	200734	SPRED2	ORPHA:648
HP:0001507	Growth abnormality	200734	SPRED2	OMIM:619745
HP:0001507	Growth abnormality	4893	NRAS	ORPHA:648
HP:0001507	Growth abnormality	4893	NRAS	OMIM:163200
HP:0001507	Growth abnormality	4893	NRAS	OMIM:613224
HP:0001507	Growth abnormality	5781	PTPN11	ORPHA:648
HP:0001507	Growth abnormality	5781	PTPN11	ORPHA:500
HP:0001507	Growth abnormality	5781	PTPN11	OMIM:151100
HP:0001507	Growth abnormality	5781	PTPN11	OMIM:163950
HP:0001507	Growth abnormality	5922	RASA2	ORPHA:648
HP:0001507	Growth abnormality	4683	NBN	ORPHA:647
HP:0001507	Growth abnormality	4683	NBN	OMIM:251260
HP:0001507	Growth abnormality	4508	MT-ATP6	ORPHA:644
HP:0001507	Growth abnormality	8665	EIF3F	OMIM:618295
HP:0001507	Growth abnormality	9652	SKIC3	ORPHA:84064
HP:0001507	Growth abnormality	9652	SKIC3	OMIM:222470
HP:0001507	Growth abnormality	6499	SKIC2	ORPHA:84064
HP:0001507	Growth abnormality	8517	IKBKG	OMIM:308300
HP:0001507	Growth abnormality	8517	IKBKG	ORPHA:464
HP:0001507	Growth abnormality	871	SERPINH1	OMIM:613848
HP:0001507	Growth abnormality	121340	SP7	OMIM:613849
HP:0001507	Growth abnormality	11005	SPINK5	ORPHA:634
HP:0001507	Growth abnormality	7337	UBE3A	ORPHA:238446
HP:0001507	Growth abnormality	4621	MYH3	ORPHA:2053
HP:0001507	Growth abnormality	4621	MYH3	ORPHA:1147
HP:0001507	Growth abnormality	4621	MYH3	ORPHA:2990
HP:0001507	Growth abnormality	4621	MYH3	OMIM:618436
HP:0001507	Growth abnormality	4621	MYH3	OMIM:178110
HP:0001507	Growth abnormality	259232	NALCN	ORPHA:2053
HP:0001507	Growth abnormality	259232	NALCN	ORPHA:1147
HP:0001507	Growth abnormality	259232	NALCN	ORPHA:371364
HP:0001507	Growth abnormality	10262	SF3B4	OMIM:154400
HP:0001507	Growth abnormality	9871	SEC24D	ORPHA:2050
HP:0001507	Growth abnormality	9871	SEC24D	OMIM:616294
HP:0001507	Growth abnormality	7109	TRAPPC10	OMIM:620027
HP:0001507	Growth abnormality	7109	TRAPPC10	ORPHA:2512
HP:0001507	Growth abnormality	10274	STAG1	ORPHA:502434
HP:0001507	Growth abnormality	1119	CHKA	OMIM:620023
HP:0001507	Growth abnormality	8496	PPFIBP1	OMIM:620024
HP:0001507	Growth abnormality	5111	PCNA	OMIM:615919
HP:0001507	Growth abnormality	5111	PCNA	ORPHA:438134
HP:0001507	Growth abnormality	2617	GARS1	OMIM:619042
HP:0001507	Growth abnormality	170302	ARX	OMIM:300004
HP:0001507	Growth abnormality	170302	ARX	ORPHA:2508
HP:0001507	Growth abnormality	162	AP1B1	OMIM:242150
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:300009
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:300554
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:308990
HP:0001507	Growth abnormality	23431	AP4E1	OMIM:613744
HP:0001507	Growth abnormality	23431	AP4E1	ORPHA:280763
HP:0001507	Growth abnormality	25782	RAB3GAP2	OMIM:212720
HP:0001507	Growth abnormality	25782	RAB3GAP2	ORPHA:2510
HP:0001507	Growth abnormality	25782	RAB3GAP2	ORPHA:1387
HP:0001507	Growth abnormality	5744	PTHLH	ORPHA:93387
HP:0001507	Growth abnormality	5744	PTHLH	OMIM:613382
HP:0001507	Growth abnormality	3239	HOXD13	ORPHA:93387
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:93384
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:93388
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:2639
HP:0001507	Growth abnormality	10472	ZBTB18	ORPHA:36367
HP:0001507	Growth abnormality	10472	ZBTB18	OMIM:612337
HP:0001507	Growth abnormality	7298	TYMS	OMIM:620040
HP:0001507	Growth abnormality	7298	TYMS	ORPHA:1775
HP:0001507	Growth abnormality	51204	TACO1	OMIM:619052
HP:0001507	Growth abnormality	28958	COA3	OMIM:619058
HP:0001507	Growth abnormality	8647	ABCB11	OMIM:601847
HP:0001507	Growth abnormality	1351	COX8A	OMIM:619059
HP:0001507	Growth abnormality	9739	SETD1A	OMIM:619056
HP:0001507	Growth abnormality	340024	SLC6A19	OMIM:234500
HP:0001507	Growth abnormality	340024	SLC6A19	ORPHA:2116
HP:0001507	Growth abnormality	3117	HLA-DQA1	OMIM:212750
HP:0001507	Growth abnormality	3119	HLA-DQB1	OMIM:212750
HP:0001507	Growth abnormality	8289	ARID1A	OMIM:614607
HP:0001507	Growth abnormality	7080	NKX2-1	ORPHA:209905
HP:0001507	Growth abnormality	7080	NKX2-1	ORPHA:95713
HP:0001507	Growth abnormality	6598	SMARCB1	OMIM:614608
HP:0001507	Growth abnormality	6597	SMARCA4	OMIM:614609
HP:0001507	Growth abnormality	54476	RNF216	ORPHA:1173
HP:0001507	Growth abnormality	4212	MEIS2	OMIM:600987
HP:0001507	Growth abnormality	4212	MEIS2	ORPHA:261190
HP:0001507	Growth abnormality	26053	AUTS2	ORPHA:352490
HP:0001507	Growth abnormality	26053	AUTS2	OMIM:615834
HP:0001507	Growth abnormality	4697	NDUFA4	OMIM:619065
HP:0001507	Growth abnormality	4591	TRIM37	OMIM:253250
HP:0001507	Growth abnormality	4591	TRIM37	ORPHA:2576
HP:0001507	Growth abnormality	1302	COL11A2	ORPHA:2021
HP:0001507	Growth abnormality	1302	COL11A2	OMIM:215150
HP:0001507	Growth abnormality	657	BMPR1A	ORPHA:79076
HP:0001507	Growth abnormality	10382	TUBB4A	OMIM:612438
HP:0001507	Growth abnormality	55154	MSTO1	ORPHA:502423
HP:0001507	Growth abnormality	55154	MSTO1	OMIM:617675
HP:0001507	Growth abnormality	3265	HRAS	OMIM:218040
HP:0001507	Growth abnormality	3265	HRAS	OMIM:163200
HP:0001507	Growth abnormality	3265	HRAS	ORPHA:3071
HP:0001507	Growth abnormality	2335	FN1	OMIM:184255
HP:0001507	Growth abnormality	2335	FN1	ORPHA:93315
HP:0001507	Growth abnormality	1802	DPH2	OMIM:620062
HP:0001507	Growth abnormality	6521	SLC4A1	OMIM:611590
HP:0001507	Growth abnormality	6774	STAT3	OMIM:615952
HP:0001507	Growth abnormality	55027	HEATR3	OMIM:620072
HP:0001507	Growth abnormality	51611	DPH5	OMIM:620070
HP:0001507	Growth abnormality	8905	AP1S2	ORPHA:85329
HP:0001507	Growth abnormality	79813	EHMT1	ORPHA:261652
HP:0001507	Growth abnormality	58508	KMT2C	ORPHA:261652
HP:0001507	Growth abnormality	25970	SH2B1	ORPHA:329249
HP:0001507	Growth abnormality	8838	CCN6	ORPHA:1159
HP:0001507	Growth abnormality	6231	RPS26	OMIM:613309
HP:0001507	Growth abnormality	6231	RPS26	ORPHA:124
HP:0001507	Growth abnormality	51085	MLXIPL	OMIM:194050
HP:0001507	Growth abnormality	51085	MLXIPL	ORPHA:904
HP:0001507	Growth abnormality	2006	ELN	OMIM:194050
HP:0001507	Growth abnormality	2006	ELN	ORPHA:904
HP:0001507	Growth abnormality	3178	HNRNPA1	ORPHA:52430
HP:0001507	Growth abnormality	7415	VCP	ORPHA:52430
HP:0001507	Growth abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0001507	Growth abnormality	3187	HNRNPH1	OMIM:620083
HP:0001507	Growth abnormality	4920	ROR2	OMIM:268310
HP:0001507	Growth abnormality	22880	MORC2	OMIM:619090
HP:0001507	Growth abnormality	50484	RRM2B	OMIM:268315
HP:0001507	Growth abnormality	7140	TNNT3	ORPHA:1147
HP:0001507	Growth abnormality	7136	TNNI2	ORPHA:1147
HP:0001507	Growth abnormality	7136	TNNI2	OMIM:601680
HP:0001507	Growth abnormality	5167	ENPP1	OMIM:613312
HP:0001507	Growth abnormality	5167	ENPP1	ORPHA:289176
HP:0001507	Growth abnormality	5167	ENPP1	OMIM:208000
HP:0001507	Growth abnormality	8195	MKKS	ORPHA:2473
HP:0001507	Growth abnormality	8195	MKKS	ORPHA:110
HP:0001507	Growth abnormality	51750	RTEL1	ORPHA:3322
HP:0001507	Growth abnormality	51750	RTEL1	ORPHA:1775
HP:0001507	Growth abnormality	65057	ACD	ORPHA:3322
HP:0001507	Growth abnormality	5073	PARN	ORPHA:3322
HP:0001507	Growth abnormality	5073	PARN	ORPHA:1775
HP:0001507	Growth abnormality	26277	TINF2	ORPHA:3322
HP:0001507	Growth abnormality	26277	TINF2	OMIM:613990
HP:0001507	Growth abnormality	26277	TINF2	ORPHA:1775
HP:0001507	Growth abnormality	1736	DKC1	ORPHA:3322
HP:0001507	Growth abnormality	1736	DKC1	OMIM:305000
HP:0001507	Growth abnormality	1736	DKC1	ORPHA:1775
HP:0001507	Growth abnormality	9775	EIF4A3	OMIM:268305
HP:0001507	Growth abnormality	29072	SETD2	OMIM:616831
HP:0001507	Growth abnormality	51025	PAM16	OMIM:613320
HP:0001507	Growth abnormality	3897	L1CAM	ORPHA:2466
HP:0001507	Growth abnormality	3897	L1CAM	OMIM:303350
HP:0001507	Growth abnormality	4352	MPL	ORPHA:3319
HP:0001507	Growth abnormality	7066	THPO	ORPHA:3319
HP:0001507	Growth abnormality	84695	LOXL3	ORPHA:250984
HP:0001507	Growth abnormality	10664	CTCF	OMIM:615502
HP:0001507	Growth abnormality	6307	MSMO1	OMIM:616834
HP:0001507	Growth abnormality	55112	DYNC2I1	OMIM:615503
HP:0001507	Growth abnormality	55112	DYNC2I1	ORPHA:474
HP:0001507	Growth abnormality	9780	PIEZO1	OMIM:616843
HP:0001507	Growth abnormality	22845	DOLK	ORPHA:91131
HP:0001507	Growth abnormality	411	ARSB	OMIM:253200
HP:0001507	Growth abnormality	10525	HYOU1	OMIM:233600
HP:0001507	Growth abnormality	55784	MCTP2	ORPHA:1596
HP:0001507	Growth abnormality	26224	FBXL3	OMIM:606220
HP:0001507	Growth abnormality	11253	MAN1B1	OMIM:614202
HP:0001507	Growth abnormality	5925	RB1	ORPHA:1587
HP:0001507	Growth abnormality	27315	PGAP2	OMIM:614207
HP:0001507	Growth abnormality	64093	SMOC1	ORPHA:1106
HP:0001507	Growth abnormality	80185	TTI2	OMIM:615541
HP:0001507	Growth abnormality	80185	TTI2	ORPHA:391307
HP:0001507	Growth abnormality	3758	KCNJ1	OMIM:241200
HP:0001507	Growth abnormality	547	KIF1A	OMIM:614213
HP:0001507	Growth abnormality	1001	CDH3	ORPHA:1573
HP:0001507	Growth abnormality	3418	IDH2	ORPHA:163634
HP:0001507	Growth abnormality	3417	IDH1	ORPHA:163634
HP:0001507	Growth abnormality	3417	IDH1	ORPHA:99646
HP:0001507	Growth abnormality	55644	OSGEP	OMIM:617729
HP:0001507	Growth abnormality	55644	OSGEP	ORPHA:2065
HP:0001507	Growth abnormality	112858	TP53RK	OMIM:617730
HP:0001507	Growth abnormality	112858	TP53RK	ORPHA:2065
HP:0001507	Growth abnormality	54361	WNT4	ORPHA:247768
HP:0001507	Growth abnormality	83737	ITCH	OMIM:613385
HP:0001507	Growth abnormality	4780	NFE2L2	OMIM:617744
HP:0001507	Growth abnormality	6569	SLC34A1	OMIM:613388
HP:0001507	Growth abnormality	6569	SLC34A1	ORPHA:157215
HP:0001507	Growth abnormality	2071	ERCC3	ORPHA:220295
HP:0001507	Growth abnormality	2071	ERCC3	OMIM:616390
HP:0001507	Growth abnormality	2071	ERCC3	OMIM:610651
HP:0001507	Growth abnormality	2071	ERCC3	ORPHA:910
HP:0001507	Growth abnormality	9215	LARGE1	OMIM:608840
HP:0001507	Growth abnormality	3756	KCNH1	ORPHA:420561
HP:0001507	Growth abnormality	10717	AP4B1	ORPHA:280763
HP:0001507	Growth abnormality	10717	AP4B1	OMIM:614066
HP:0001507	Growth abnormality	9179	AP4M1	ORPHA:280763
HP:0001507	Growth abnormality	11154	AP4S1	ORPHA:280763
HP:0001507	Growth abnormality	11154	AP4S1	OMIM:614067
HP:0001507	Growth abnormality	2186	BPTF	OMIM:617755
HP:0001507	Growth abnormality	2990	GUSB	OMIM:253220
HP:0001507	Growth abnormality	6913	TBX15	ORPHA:93333
HP:0001507	Growth abnormality	9469	CHST3	OMIM:245600
HP:0001507	Growth abnormality	9469	CHST3	OMIM:143095
HP:0001507	Growth abnormality	26229	B3GAT3	OMIM:245600
HP:0001507	Growth abnormality	23404	EXOSC2	OMIM:617763
HP:0001507	Growth abnormality	55331	ACER3	OMIM:617762
HP:0001507	Growth abnormality	92935	MARS2	OMIM:616430
HP:0001507	Growth abnormality	7043	TGFB3	OMIM:615582
HP:0001507	Growth abnormality	22827	PUF60	OMIM:615583
HP:0001507	Growth abnormality	22827	PUF60	ORPHA:508498
HP:0001507	Growth abnormality	22827	PUF60	ORPHA:508488
HP:0001507	Growth abnormality	10082	GPC6	ORPHA:93329
HP:0001507	Growth abnormality	8074	FGF23	OMIM:193100
HP:0001507	Growth abnormality	5238	PGM3	ORPHA:443811
HP:0001507	Growth abnormality	4897	NRCAM	OMIM:619833
HP:0001507	Growth abnormality	6662	SOX9	ORPHA:140
HP:0001507	Growth abnormality	23498	HAAO	OMIM:617660
HP:0001507	Growth abnormality	9578	CDC42BPB	OMIM:619841
HP:0001507	Growth abnormality	64412	GZF1	OMIM:617662
HP:0001507	Growth abnormality	8942	KYNU	OMIM:617661
HP:0001507	Growth abnormality	1841	DTYMK	OMIM:619847
HP:0001507	Growth abnormality	3149	HMGB3	OMIM:300915
HP:0001507	Growth abnormality	3716	JAK1	OMIM:618999
HP:0001507	Growth abnormality	57082	KNL1	OMIM:604321
HP:0001507	Growth abnormality	57082	KNL1	ORPHA:2512
HP:0001507	Growth abnormality	9723	SEMA3E	ORPHA:138
HP:0001507	Growth abnormality	29957	SLC25A24	ORPHA:2963
HP:0001507	Growth abnormality	29957	SLC25A24	ORPHA:2095
HP:0001507	Growth abnormality	29957	SLC25A24	OMIM:612289
HP:0001507	Growth abnormality	818	CAMK2G	OMIM:618522
HP:0001507	Growth abnormality	10606	PAICS	OMIM:619859
HP:0001507	Growth abnormality	64359	NXN	OMIM:618529
HP:0001507	Growth abnormality	7994	KAT6A	ORPHA:457193
HP:0001507	Growth abnormality	5139	PDE3A	OMIM:112410
HP:0001507	Growth abnormality	5139	PDE3A	ORPHA:1276
HP:0001507	Growth abnormality	10484	SEC23A	OMIM:607812
HP:0001507	Growth abnormality	10484	SEC23A	ORPHA:50814
HP:0001507	Growth abnormality	8550	MAPKAPK5	OMIM:619869
HP:0001507	Growth abnormality	23007	PLCH1	ORPHA:93925
HP:0001507	Growth abnormality	4645	MYO5B	OMIM:619868
HP:0001507	Growth abnormality	81794	ADAMTS10	OMIM:277600
HP:0001507	Growth abnormality	81794	ADAMTS10	ORPHA:3449
HP:0001507	Growth abnormality	92482	BBIP1	ORPHA:110
HP:0001507	Growth abnormality	11020	IFT27	ORPHA:110
HP:0001507	Growth abnormality	582	BBS1	ORPHA:110
HP:0001507	Growth abnormality	49855	SCAPER	ORPHA:110
HP:0001507	Growth abnormality	51057	WDPCP	ORPHA:110
HP:0001507	Growth abnormality	27241	BBS9	ORPHA:110
HP:0001507	Growth abnormality	84984	CEP19	ORPHA:110
HP:0001507	Growth abnormality	22954	TRIM32	ORPHA:110
HP:0001507	Growth abnormality	54903	MKS1	ORPHA:110
HP:0001507	Growth abnormality	79738	BBS10	ORPHA:110
HP:0001507	Growth abnormality	123016	TTC8	ORPHA:110
HP:0001507	Growth abnormality	583	BBS2	ORPHA:110
HP:0001507	Growth abnormality	585	BBS4	ORPHA:110
HP:0001507	Growth abnormality	54585	LZTFL1	ORPHA:110
HP:0001507	Growth abnormality	55212	BBS7	ORPHA:110
HP:0001507	Growth abnormality	166379	BBS12	ORPHA:110
HP:0001507	Growth abnormality	157657	CFAP418	ORPHA:110
HP:0001507	Growth abnormality	84100	ARL6	ORPHA:110
HP:0001507	Growth abnormality	129880	BBS5	ORPHA:110
HP:0001507	Growth abnormality	80173	IFT74	ORPHA:110
HP:0001507	Growth abnormality	402381	SOHLH1	OMIM:617690
HP:0001507	Growth abnormality	3590	IL11RA	OMIM:614188
HP:0001507	Growth abnormality	23126	POGZ	OMIM:616364
HP:0001507	Growth abnormality	23126	POGZ	ORPHA:468678
HP:0001507	Growth abnormality	1594	CYP27B1	ORPHA:289157
HP:0001507	Growth abnormality	120227	CYP2R1	ORPHA:289157
HP:0001507	Growth abnormality	3098	HK1	OMIM:618547
HP:0001507	Growth abnormality	5590	PRKCZ	ORPHA:1606
HP:0001507	Growth abnormality	2563	GABRD	ORPHA:1606
HP:0001507	Growth abnormality	23013	SPEN	ORPHA:1606
HP:0001507	Growth abnormality	8510	MMP23B	ORPHA:1606
HP:0001507	Growth abnormality	7798	LUZP1	ORPHA:1606
HP:0001507	Growth abnormality	6497	SKI	ORPHA:1606
HP:0001507	Growth abnormality	10630	PDPN	ORPHA:1606
HP:0001507	Growth abnormality	10277	UBE4B	ORPHA:1606
HP:0001507	Growth abnormality	8514	KCNAB2	ORPHA:1606
HP:0001507	Growth abnormality	63976	PRDM16	ORPHA:1606
HP:0001507	Growth abnormality	54897	CASZ1	ORPHA:1606
HP:0001507	Growth abnormality	285362	SUMF1	ORPHA:585
HP:0001507	Growth abnormality	285362	SUMF1	OMIM:272200
HP:0001507	Growth abnormality	472	ATM	ORPHA:100
HP:0001507	Growth abnormality	472	ATM	OMIM:208900
HP:0001507	Growth abnormality	79633	FAT4	ORPHA:314679
HP:0001507	Growth abnormality	8642	DCHS1	ORPHA:314679
HP:0001507	Growth abnormality	1758	DMP1	ORPHA:289176
HP:0001507	Growth abnormality	57679	ALS2	OMIM:205100
HP:0001507	Growth abnormality	84295	PHF6	ORPHA:127
HP:0001507	Growth abnormality	84295	PHF6	OMIM:301900
HP:0001507	Growth abnormality	6135	RPL11	ORPHA:124
HP:0001507	Growth abnormality	6138	RPL15	ORPHA:124
HP:0001507	Growth abnormality	6229	RPS24	ORPHA:124
HP:0001507	Growth abnormality	6125	RPL5	ORPHA:124
HP:0001507	Growth abnormality	6204	RPS10	ORPHA:124
HP:0001507	Growth abnormality	6224	RPS20	ORPHA:124
HP:0001507	Growth abnormality	2623	GATA1	ORPHA:124
HP:0001507	Growth abnormality	2623	GATA1	OMIM:190685
HP:0001507	Growth abnormality	6223	RPS19	ORPHA:124
HP:0001507	Growth abnormality	6223	RPS19	OMIM:105650
HP:0001507	Growth abnormality	6232	RPS27	ORPHA:124
HP:0001507	Growth abnormality	11224	RPL35	ORPHA:124
HP:0001507	Growth abnormality	6160	RPL31	ORPHA:124
HP:0001507	Growth abnormality	6155	RPL27	ORPHA:124
HP:0001507	Growth abnormality	6154	RPL26	ORPHA:124
HP:0001507	Growth abnormality	6154	RPL26	OMIM:614900
HP:0001507	Growth abnormality	6210	RPS15A	ORPHA:124
HP:0001507	Growth abnormality	90121	TSR2	ORPHA:124
HP:0001507	Growth abnormality	6141	RPL18	ORPHA:124
HP:0001507	Growth abnormality	6235	RPS29	ORPHA:124
HP:0001507	Growth abnormality	6234	RPS28	ORPHA:124
HP:0001507	Growth abnormality	6234	RPS28	OMIM:606164
HP:0001507	Growth abnormality	51816	ADA2	ORPHA:124
HP:0001507	Growth abnormality	404672	GTF2H5	OMIM:616395
HP:0001507	Growth abnormality	9742	IFT140	OMIM:266920
HP:0001507	Growth abnormality	9742	IFT140	ORPHA:474
HP:0001507	Growth abnormality	205327	C2orf69	OMIM:619423
HP:0001507	Growth abnormality	26173	INTS1	OMIM:618571
HP:0001507	Growth abnormality	9427	ECEL1	OMIM:615065
HP:0001507	Growth abnormality	55656	INTS8	OMIM:618572
HP:0001507	Growth abnormality	55151	TMEM38B	OMIM:615066
HP:0001507	Growth abnormality	7201	TRHR	OMIM:618573
HP:0001507	Growth abnormality	165918	RNF168	OMIM:611943
HP:0001507	Growth abnormality	165918	RNF168	ORPHA:420741
HP:0001507	Growth abnormality	9949	AMMECR1	OMIM:300990
HP:0001507	Growth abnormality	4558	MT-TF	ORPHA:551
HP:0001507	Growth abnormality	4558	MT-TF	ORPHA:550
HP:0001507	Growth abnormality	4567	MT-TL1	ORPHA:551
HP:0001507	Growth abnormality	4567	MT-TL1	ORPHA:550
HP:0001507	Growth abnormality	4549	MT-RNR1	ORPHA:551
HP:0001507	Growth abnormality	4574	MT-TS1	ORPHA:551
HP:0001507	Growth abnormality	4574	MT-TS1	ORPHA:550
HP:0001507	Growth abnormality	4575	MT-TS2	ORPHA:551
HP:0001507	Growth abnormality	4575	MT-TS2	ORPHA:550
HP:0001507	Growth abnormality	4571	MT-TP	ORPHA:551
HP:0001507	Growth abnormality	4572	MT-TQ	ORPHA:551
HP:0001507	Growth abnormality	4572	MT-TQ	ORPHA:550
HP:0001507	Growth abnormality	4540	MT-ND5	ORPHA:551
HP:0001507	Growth abnormality	4540	MT-ND5	ORPHA:550
HP:0001507	Growth abnormality	4566	MT-TK	ORPHA:551
HP:0001507	Growth abnormality	4564	MT-TH	ORPHA:551
HP:0001507	Growth abnormality	4564	MT-TH	ORPHA:550
HP:0001507	Growth abnormality	4512	MT-CO1	ORPHA:550
HP:0001507	Growth abnormality	4513	MT-CO2	ORPHA:550
HP:0001507	Growth abnormality	4514	MT-CO3	ORPHA:550
HP:0001507	Growth abnormality	4578	MT-TW	ORPHA:550
HP:0001507	Growth abnormality	4541	MT-ND6	ORPHA:550
HP:0001507	Growth abnormality	4535	MT-ND1	ORPHA:550
HP:0001507	Growth abnormality	4538	MT-ND4	ORPHA:550
HP:0001507	Growth abnormality	6134	RPL10	OMIM:300998
HP:0001507	Growth abnormality	56896	DPYSL5	OMIM:619435
HP:0001507	Growth abnormality	1859	DYRK1A	ORPHA:268261
HP:0001507	Growth abnormality	1859	DYRK1A	OMIM:614104
HP:0001507	Growth abnormality	6418	SET	OMIM:618106
HP:0001507	Growth abnormality	7707	ZNF148	OMIM:617260
HP:0001507	Growth abnormality	3778	KCNMA1	OMIM:618596
HP:0001507	Growth abnormality	23729	SHPK	ORPHA:440713
HP:0001507	Growth abnormality	4952	OCRL	ORPHA:534
HP:0001507	Growth abnormality	4952	OCRL	OMIM:300555
HP:0001507	Growth abnormality	4952	OCRL	OMIM:309000
HP:0001507	Growth abnormality	56975	FAM20C	OMIM:259775
HP:0001507	Growth abnormality	79158	GNPTAB	ORPHA:576
HP:0001507	Growth abnormality	79158	GNPTAB	OMIM:252600
HP:0001507	Growth abnormality	55250	ELP2	OMIM:617270
HP:0001507	Growth abnormality	3039	HBA1	ORPHA:98791
HP:0001507	Growth abnormality	3040	HBA2	ORPHA:98791
HP:0001507	Growth abnormality	2735	GLI1	OMIM:618123
HP:0001507	Growth abnormality	8888	MCM3AP	OMIM:618124
HP:0001507	Growth abnormality	51132	RLIM	OMIM:300978
HP:0001507	Growth abnormality	513	ATP5F1D	OMIM:618120
HP:0001507	Growth abnormality	1312	COMT	ORPHA:567
HP:0001507	Growth abnormality	221037	JMJD1C	ORPHA:567
HP:0001507	Growth abnormality	2812	GP1BB	ORPHA:567
HP:0001507	Growth abnormality	6239	RREB1	ORPHA:567
HP:0001507	Growth abnormality	6899	TBX1	ORPHA:567
HP:0001507	Growth abnormality	6899	TBX1	OMIM:192430
HP:0001507	Growth abnormality	6899	TBX1	OMIM:188400
HP:0001507	Growth abnormality	7290	HIRA	ORPHA:567
HP:0001507	Growth abnormality	9632	SEC24C	ORPHA:567
HP:0001507	Growth abnormality	7353	UFD1	ORPHA:567
HP:0001507	Growth abnormality	421	ARVCF	ORPHA:567
HP:0001507	Growth abnormality	6557	SLC12A1	OMIM:601678
HP:0001507	Growth abnormality	633	BGN	OMIM:300989
HP:0001507	Growth abnormality	146206	CARMIL2	OMIM:618131
HP:0001507	Growth abnormality	3188	HNRNPH2	OMIM:300986
HP:0001507	Growth abnormality	4613	MYCN	ORPHA:391641
HP:0001507	Growth abnormality	57187	THOC2	OMIM:300957
HP:0001507	Growth abnormality	57187	THOC2	ORPHA:457240
HP:0001507	Growth abnormality	10526	IPO8	OMIM:619472
HP:0001507	Growth abnormality	2892	GRIA3	ORPHA:364028
HP:0001507	Growth abnormality	2892	GRIA3	OMIM:300699
HP:0001507	Growth abnormality	7737	RNF113A	OMIM:300953
HP:0001507	Growth abnormality	4361	MRE11	ORPHA:251347
HP:0001507	Growth abnormality	64327	LMBR1	ORPHA:988
HP:0001507	Growth abnormality	9060	PAPSS2	OMIM:612847
HP:0001507	Growth abnormality	25839	COG4	OMIM:618150
HP:0001507	Growth abnormality	25839	COG4	ORPHA:85172
HP:0001507	Growth abnormality	10682	EBP	OMIM:300960
HP:0001507	Growth abnormality	10682	EBP	ORPHA:401973
HP:0001507	Growth abnormality	10682	EBP	ORPHA:35173
HP:0001507	Growth abnormality	2760	GM2A	ORPHA:309246
HP:0001507	Growth abnormality	60676	PAPPA2	OMIM:619489
HP:0001507	Growth abnormality	8239	USP9X	OMIM:300968
HP:0001507	Growth abnormality	8239	USP9X	ORPHA:480880
HP:0001507	Growth abnormality	2628	GATM	OMIM:134600
HP:0001507	Growth abnormality	2998	GYS2	ORPHA:2089
HP:0001507	Growth abnormality	407975	MIR17HG	ORPHA:391646
HP:0001507	Growth abnormality	55599	RNPC3	OMIM:618160
HP:0001507	Growth abnormality	5317	PKP1	ORPHA:158668
HP:0001507	Growth abnormality	2193	FARSA	OMIM:619013
HP:0001507	Growth abnormality	10491	CRTAP	OMIM:610682
HP:0001507	Growth abnormality	203190	LGI3	OMIM:620007
HP:0001507	Growth abnormality	9897	WASHC5	ORPHA:7
HP:0001507	Growth abnormality	28952	CCDC22	ORPHA:7
HP:0001507	Growth abnormality	64432	MRPS25	OMIM:619025
HP:0001507	Growth abnormality	1496	CTNNA2	OMIM:618174
HP:0001507	Growth abnormality	84168	ANTXR1	ORPHA:2067
HP:0001507	Growth abnormality	51002	TPRKB	ORPHA:2065
HP:0001507	Growth abnormality	84942	WDR73	ORPHA:2065
HP:0001507	Growth abnormality	84942	WDR73	OMIM:251300
HP:0001507	Growth abnormality	55746	NUP133	ORPHA:2065
HP:0001507	Growth abnormality	8270	LAGE3	ORPHA:2065
HP:0001507	Growth abnormality	8270	LAGE3	OMIM:301006
HP:0001507	Growth abnormality	26276	VPS33B	OMIM:620010
HP:0001507	Growth abnormality	7355	SLC35A2	ORPHA:356961
HP:0001507	Growth abnormality	57539	WDR35	OMIM:613610
HP:0001507	Growth abnormality	57539	WDR35	OMIM:614091
HP:0001507	Growth abnormality	123263	MTFMT	OMIM:614947
HP:0001507	Growth abnormality	9839	ZEB2	OMIM:235730
HP:0001507	Growth abnormality	9839	ZEB2	ORPHA:261552
HP:0001507	Growth abnormality	9839	ZEB2	ORPHA:261537
HP:0001507	Growth abnormality	2542	SLC37A4	OMIM:232220
HP:0001507	Growth abnormality	2542	SLC37A4	ORPHA:79259
HP:0001507	Growth abnormality	51506	UFC1	OMIM:618076
HP:0001507	Growth abnormality	80055	PGAP1	OMIM:615802
HP:0001507	Growth abnormality	10225	CD96	OMIM:211750
HP:0001507	Growth abnormality	10225	CD96	ORPHA:1308
HP:0001507	Growth abnormality	1763	DNA2	OMIM:615807
HP:0001507	Growth abnormality	3766	KCNJ10	OMIM:612780
HP:0001507	Growth abnormality	80204	FBXO11	OMIM:618089
HP:0001507	Growth abnormality	50814	NSDHL	OMIM:308050
HP:0001507	Growth abnormality	2538	G6PC1	OMIM:232200
HP:0001507	Growth abnormality	3953	LEPR	OMIM:614963
HP:0001507	Growth abnormality	23325	WASHC4	OMIM:615817
HP:0001507	Growth abnormality	57531	HACE1	ORPHA:464282
HP:0001507	Growth abnormality	57531	HACE1	OMIM:616756
HP:0001507	Growth abnormality	9896	FIG4	ORPHA:3472
HP:0001507	Growth abnormality	55697	VAC14	ORPHA:3472
HP:0001507	Growth abnormality	7020	TFAP2A	ORPHA:1297
HP:0001507	Growth abnormality	3425	IDUA	OMIM:607014
HP:0001507	Growth abnormality	3425	IDUA	OMIM:607015
HP:0001507	Growth abnormality	3425	IDUA	ORPHA:93473
HP:0001507	Growth abnormality	3425	IDUA	ORPHA:93476
HP:0001507	Growth abnormality	3192	HNRNPU	ORPHA:238769
HP:0001507	Growth abnormality	2903	GRIN2A	OMIM:245570
HP:0001507	Growth abnormality	2903	GRIN2A	ORPHA:289266
HP:0001507	Growth abnormality	5063	PAK3	OMIM:300558
HP:0001507	Growth abnormality	10056	FARSB	OMIM:613658
HP:0001507	Growth abnormality	3748	KCNC3	ORPHA:98768
HP:0001507	Growth abnormality	54499	TMCO1	OMIM:213980
HP:0001507	Growth abnormality	54499	TMCO1	ORPHA:1394
HP:0001507	Growth abnormality	10436	EMG1	ORPHA:1270
HP:0001507	Growth abnormality	81887	LAS1L	ORPHA:3459
HP:0001507	Growth abnormality	5422	POLA1	ORPHA:163976
HP:0001507	Growth abnormality	5422	POLA1	OMIM:301030
HP:0001507	Growth abnormality	10661	KLF1	OMIM:613673
HP:0001507	Growth abnormality	57393	CLTRN	ORPHA:2116
HP:0001507	Growth abnormality	55275	VPS53	OMIM:615851
HP:0001507	Growth abnormality	64116	SLC39A8	ORPHA:468699
HP:0001507	Growth abnormality	64116	SLC39A8	OMIM:616721
HP:0001507	Growth abnormality	28962	OSTM1	OMIM:259720
HP:0001507	Growth abnormality	91252	SLC39A13	OMIM:612350
HP:0001507	Growth abnormality	355	FAS	ORPHA:3437
HP:0001507	Growth abnormality	26191	PTPN22	ORPHA:3437
HP:0001507	Growth abnormality	6664	SOX11	OMIM:615866
HP:0001507	Growth abnormality	91949	COG7	OMIM:608779
HP:0001507	Growth abnormality	2245	FGD1	OMIM:305400
HP:0001507	Growth abnormality	2245	FGD1	ORPHA:915
HP:0001507	Growth abnormality	124997	WDR81	OMIM:610185
HP:0001507	Growth abnormality	124997	WDR81	ORPHA:1766
HP:0001507	Growth abnormality	23028	KDM1A	OMIM:616728
HP:0001507	Growth abnormality	55593	OTUD5	OMIM:301056
HP:0001507	Growth abnormality	4854	NOTCH3	OMIM:130720
HP:0001507	Growth abnormality	10982	MAPRE2	OMIM:616734
HP:0001507	Growth abnormality	10982	MAPRE2	ORPHA:2505
HP:0001507	Growth abnormality	1911	PHC1	OMIM:615414
HP:0001507	Growth abnormality	1911	PHC1	ORPHA:2512
HP:0001507	Growth abnormality	2917	GRM7	OMIM:618922
HP:0001507	Growth abnormality	176	ACAN	OMIM:165800
HP:0001507	Growth abnormality	60	ACTB	ORPHA:79107
HP:0001507	Growth abnormality	60	ACTB	OMIM:243310
HP:0001507	Growth abnormality	8471	IRS4	OMIM:301035
HP:0001507	Growth abnormality	25	ABL1	OMIM:617602
HP:0001507	Growth abnormality	79415	CYBC1	OMIM:618935
HP:0001507	Growth abnormality	29980	DONSON	OMIM:617604
HP:0001507	Growth abnormality	9343	EFTUD2	ORPHA:79113
HP:0001507	Growth abnormality	9343	EFTUD2	OMIM:610536
HP:0001507	Growth abnormality	23476	BRD4	ORPHA:199
HP:0001507	Growth abnormality	157680	VPS13B	ORPHA:193
HP:0001507	Growth abnormality	157680	VPS13B	OMIM:216550
HP:0001507	Growth abnormality	71	ACTG1	OMIM:614583
HP:0001507	Growth abnormality	2517	FUCA1	OMIM:230000
HP:0001507	Growth abnormality	9894	TELO2	ORPHA:488642
HP:0001507	Growth abnormality	259266	ASPM	OMIM:608716
HP:0001507	Growth abnormality	259266	ASPM	ORPHA:2512
HP:0001507	Growth abnormality	23247	KATNIP	OMIM:616784
HP:0001507	Growth abnormality	8192	CLPP	OMIM:614129
HP:0001507	Growth abnormality	85378	TUBGCP6	ORPHA:2518
HP:0001507	Growth abnormality	85378	TUBGCP6	OMIM:251270
HP:0001507	Growth abnormality	27229	TUBGCP4	ORPHA:2518
HP:0001507	Growth abnormality	1146	CHRNG	ORPHA:2990
HP:0001507	Growth abnormality	1146	CHRNG	OMIM:265000
HP:0001507	Growth abnormality	9939	RBM8A	OMIM:274000
HP:0001507	Growth abnormality	22931	RAB18	ORPHA:2510
HP:0001507	Growth abnormality	5286	PIK3C2A	ORPHA:557003
HP:0001507	Growth abnormality	5286	PIK3C2A	OMIM:618440
HP:0001507	Growth abnormality	11113	CIT	ORPHA:2512
HP:0001507	Growth abnormality	11113	CIT	OMIM:617090
HP:0001507	Growth abnormality	9928	KIF14	ORPHA:2512
HP:0001507	Growth abnormality	9928	KIF14	OMIM:617914
HP:0001507	Growth abnormality	284403	WDR62	ORPHA:2512
HP:0001507	Growth abnormality	55262	TRAPPC14	ORPHA:2512
HP:0001507	Growth abnormality	163786	SASS6	ORPHA:2512
HP:0001507	Growth abnormality	29920	PYCR2	ORPHA:2512
HP:0001507	Growth abnormality	84879	MFSD2A	ORPHA:2512
HP:0001507	Growth abnormality	4176	MCM7	ORPHA:2512
HP:0001507	Growth abnormality	23310	NCAPD3	ORPHA:2512
HP:0001507	Growth abnormality	23310	NCAPD3	OMIM:617984
HP:0001507	Growth abnormality	9662	CEP135	ORPHA:2512
HP:0001507	Growth abnormality	1021	CDK6	ORPHA:2512
HP:0001507	Growth abnormality	203068	TUBB	ORPHA:2505
HP:0001507	Growth abnormality	10749	KIF1C	ORPHA:397946
HP:0001507	Growth abnormality	104	ADARB1	OMIM:618862
HP:0001507	Growth abnormality	60684	TRAPPC11	OMIM:615356
HP:0001507	Growth abnormality	60684	TRAPPC11	ORPHA:869
HP:0001507	Growth abnormality	3703	STT3A	OMIM:619714
HP:0001507	Growth abnormality	347733	TUBB2B	ORPHA:1766
HP:0001507	Growth abnormality	51761	ATP8A2	ORPHA:1766
HP:0001507	Growth abnormality	767	CA8	ORPHA:1766
HP:0001507	Growth abnormality	3021	H3-3B	OMIM:619721
HP:0001507	Growth abnormality	79639	TMEM53	OMIM:619727
HP:0001507	Growth abnormality	84572	GNPTG	OMIM:252605
HP:0001507	Growth abnormality	716	C1S	ORPHA:75392
HP:0001507	Growth abnormality	715	C1R	ORPHA:75392
HP:0001507	Growth abnormality	2590	GALNT2	OMIM:618885
HP:0001507	Growth abnormality	170691	ADAMTS17	OMIM:613195
HP:0001507	Growth abnormality	4853	NOTCH2	OMIM:102500
HP:0001507	Growth abnormality	4853	NOTCH2	ORPHA:955
HP:0001507	Growth abnormality	56172	ANKH	OMIM:123000
HP:0001507	Growth abnormality	9581	PREPL	OMIM:616224
HP:0001507	Growth abnormality	90993	CREB3L1	OMIM:616229
HP:0001507	Growth abnormality	23761	PISD	OMIM:618889
HP:0001507	Growth abnormality	5442	POLRMT	OMIM:619743
HP:0001507	Growth abnormality	4297	KMT2A	ORPHA:319182
HP:0001507	Growth abnormality	4297	KMT2A	OMIM:605130
HP:0001507	Growth abnormality	833	CARS1	OMIM:618891
HP:0001507	Growth abnormality	55012	PPP2R3C	OMIM:618419
HP:0001507	Growth abnormality	1789	DNMT3B	OMIM:242860
HP:0001507	Growth abnormality	1789	DNMT3B	ORPHA:2268
HP:0001507	Growth abnormality	153241	CEP120	ORPHA:474
HP:0001507	Growth abnormality	57560	IFT80	ORPHA:474
HP:0001507	Growth abnormality	89891	DYNC2I2	ORPHA:474
HP:0001507	Growth abnormality	1947	EFNB1	OMIM:304110
HP:0001507	Growth abnormality	3572	IL6ST	OMIM:619750
HP:0001507	Growth abnormality	8363	H4C11	OMIM:619759
HP:0001507	Growth abnormality	145258	GSC	OMIM:602471
HP:0001507	Growth abnormality	54928	BPNT2	OMIM:614078
HP:0001507	Growth abnormality	51098	IFT52	OMIM:617102
HP:0001507	Growth abnormality	53335	BCL11A	OMIM:617101
HP:0001507	Growth abnormality	9993	DGCR2	OMIM:192430
HP:0001507	Growth abnormality	8220	ESS2	OMIM:192430
HP:0001507	Growth abnormality	8214	DGCR6	OMIM:192430
HP:0001507	Growth abnormality	54487	DGCR8	OMIM:192430
HP:0001507	Growth abnormality	51651	PTRH2	OMIM:616263
HP:0001507	Growth abnormality	23162	MAPK8IP3	OMIM:618443
HP:0001507	Growth abnormality	249	ALPL	OMIM:241510
HP:0001507	Growth abnormality	387733	IFITM5	OMIM:610967
HP:0001507	Growth abnormality	26100	WIPI2	OMIM:618453
HP:0001507	Growth abnormality	8295	TRRAP	OMIM:618454
HP:0001507	Growth abnormality	112752	IFT43	OMIM:614099
HP:0001507	Growth abnormality	6878	TAF6	OMIM:617126
HP:0001507	Growth abnormality	5277	PIGA	OMIM:301072
HP:0001507	Growth abnormality	2902	GRIN1	ORPHA:208447
HP:0001507	Growth abnormality	6492	SIM1	ORPHA:369873
HP:0001507	Growth abnormality	79879	CCDC134	OMIM:619795
HP:0001507	Growth abnormality	54892	NCAPG2	OMIM:618460
HP:0001507	Growth abnormality	6650	CAPN15	OMIM:619318
HP:0001507	Growth abnormality	8675	STX16	ORPHA:94089
HP:0001507	Growth abnormality	5631	PRPS1	ORPHA:423479
HP:0001507	Growth abnormality	5631	PRPS1	OMIM:300661
HP:0001507	Growth abnormality	6548	SLC9A1	OMIM:616291
HP:0001507	Growth abnormality	221496	LEMD2	OMIM:619322
HP:0001507	Growth abnormality	29998	BICRA	OMIM:619325
HP:0001507	Growth abnormality	6651	SON	OMIM:617140
HP:0001507	Growth abnormality	23586	RIGI	OMIM:616298
HP:0001507	Growth abnormality	8882	ZPR1	OMIM:619321
HP:0001507	Growth abnormality	55503	TRPV6	ORPHA:417
HP:0001507	Growth abnormality	846	CASR	ORPHA:417
HP:0001507	Growth abnormality	846	CASR	OMIM:601198
HP:0001507	Growth abnormality	1725	DHPS	OMIM:618480
HP:0001507	Growth abnormality	7476	WNT7A	OMIM:228930
HP:0001507	Growth abnormality	2530	FUT8	OMIM:618005
HP:0001507	Growth abnormality	54496	PRMT7	OMIM:617157
HP:0001507	Growth abnormality	1108	CHD4	OMIM:617159
HP:0001507	Growth abnormality	23389	MED13L	ORPHA:369891
HP:0001507	Growth abnormality	1781	DYNC1I2	OMIM:618492
HP:0001507	Growth abnormality	8091	HMGA2	ORPHA:94063
HP:0001507	Growth abnormality	23592	LEMD3	ORPHA:94063
HP:0001507	Growth abnormality	23592	LEMD3	ORPHA:1306
HP:0001507	Growth abnormality	54681	P4HTM	OMIM:618493
HP:0001507	Growth abnormality	79644	SRD5A3	OMIM:612713
HP:0001507	Growth abnormality	5977	DPF2	OMIM:618027
HP:0001507	Growth abnormality	29926	GMPPA	ORPHA:869
HP:0001507	Growth abnormality	2077	ERF	OMIM:617180
HP:0001507	Growth abnormality	51715	RAB23	OMIM:201000
HP:0001507	Growth abnormality	226	ALDOA	OMIM:611881
HP:0001507	Growth abnormality	6299	SALL1	ORPHA:857
HP:0001507	Growth abnormality	51339	DACT1	ORPHA:857
HP:0001507	Growth abnormality	5080	PAX6	ORPHA:893
HP:0001507	Growth abnormality	627	BDNF	ORPHA:893
HP:0001507	Growth abnormality	7490	WT1	ORPHA:893
HP:0001507	Growth abnormality	1650	DDOST	ORPHA:300536
HP:0001507	Growth abnormality	7390	UROS	OMIM:263700
HP:0001507	Growth abnormality	142680	SLC34A3	ORPHA:157215
HP:0001507	Growth abnormality	2332	FMR1	ORPHA:261483
HP:0001507	Growth abnormality	23154	NCDN	OMIM:619373
HP:0001507	Growth abnormality	5236	PGM1	OMIM:614921
HP:0001507	Growth abnormality	11011	TLK2	OMIM:618050
HP:0001507	Growth abnormality	161742	SPRED1	ORPHA:137605
HP:0001507	Growth abnormality	5144	PDE4D	ORPHA:950
HP:0001507	Growth abnormality	7421	VDR	ORPHA:93160
HP:0001507	Growth abnormality	9131	AIFM1	OMIM:300232
HP:0001507	Growth abnormality	347734	SLC35B2	OMIM:620269
HP:0001507	Growth abnormality	345895	RSPH4A	OMIM:612649
HP:0001507	Growth abnormality	23118	TAB2	ORPHA:228410
HP:0001507	Growth abnormality	221421	RSPH9	OMIM:612650
HP:0001507	Growth abnormality	2911	GRM1	OMIM:614831
HP:0001507	Growth abnormality	6926	TBX3	ORPHA:3138
HP:0001507	Growth abnormality	3899	AFF3	OMIM:619297
HP:0001507	Growth abnormality	10157	AASS	ORPHA:3124
HP:0001507	Growth abnormality	10157	AASS	ORPHA:2203
HP:0001507	Growth abnormality	5095	PCCA	OMIM:606054
HP:0001507	Growth abnormality	5096	PCCB	OMIM:606054
HP:0001507	Growth abnormality	3070	HELLS	ORPHA:2268
HP:0001507	Growth abnormality	83879	CDCA7	ORPHA:2268
HP:0001507	Growth abnormality	9841	ZBTB24	ORPHA:2268
HP:0001507	Growth abnormality	6804	STX1A	ORPHA:904
HP:0001507	Growth abnormality	7461	CLIP2	ORPHA:904
HP:0001507	Growth abnormality	84277	DNAJC30	ORPHA:904
HP:0001507	Growth abnormality	8468	FKBP6	ORPHA:904
HP:0001507	Growth abnormality	5982	RFC2	ORPHA:904
HP:0001507	Growth abnormality	2969	GTF2I	ORPHA:904
HP:0001507	Growth abnormality	3984	LIMK1	ORPHA:904
HP:0001507	Growth abnormality	9569	GTF2IRD1	ORPHA:904
HP:0001507	Growth abnormality	155382	VPS37D	ORPHA:904
HP:0001507	Growth abnormality	155368	METTL27	ORPHA:904
HP:0001507	Growth abnormality	114049	BUD23	ORPHA:904
HP:0001507	Growth abnormality	7458	EIF4H	ORPHA:904
HP:0001507	Growth abnormality	84163	GTF2IRD2	ORPHA:904
HP:0001507	Growth abnormality	9275	BCL7B	ORPHA:904
HP:0001507	Growth abnormality	26608	TBL2	ORPHA:904
HP:0001507	Growth abnormality	653361	NCF1	ORPHA:904
HP:0001507	Growth abnormality	135886	TMEM270	ORPHA:904
HP:0001507	Growth abnormality	9031	BAZ1B	ORPHA:904
HP:0001507	Growth abnormality	6329	SCN4A	ORPHA:99735
HP:0001507	Growth abnormality	6628	SNRPB	ORPHA:1393
HP:0001507	Growth abnormality	9493	KIF23	ORPHA:98870
HP:0001507	Growth abnormality	29127	RACGAP1	ORPHA:98870
HP:0001507	Growth abnormality	23483	TGDS	ORPHA:1388
HP:0001507	Growth abnormality	4313	MMP2	OMIM:259600
HP:0001507	Growth abnormality	55081	IFT57	OMIM:617927
HP:0001507	Growth abnormality	7507	XPA	ORPHA:910
HP:0001507	Growth abnormality	7508	XPC	ORPHA:910
HP:0001507	Growth abnormality	1643	DDB2	ORPHA:910
HP:0001507	Growth abnormality	9698	PUM1	OMIM:617931
HP:0001507	Growth abnormality	4173	MCM4	OMIM:609981
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95720
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95713
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95712
HP:0001507	Growth abnormality	7253	TSHR	ORPHA:95720
HP:0001507	Growth abnormality	7253	TSHR	ORPHA:95713
HP:0001507	Growth abnormality	5172	SLC26A4	ORPHA:95720
HP:0001507	Growth abnormality	5172	SLC26A4	ORPHA:95713
HP:0001507	Growth abnormality	389827	MYMK	ORPHA:1358
HP:0001507	Growth abnormality	101929726	MYMX	ORPHA:1358
HP:0001507	Growth abnormality	8671	SLC4A4	OMIM:604278
HP:0001507	Growth abnormality	1482	NKX2-5	ORPHA:95713
HP:0001507	Growth abnormality	1482	NKX2-5	ORPHA:95712
HP:0001507	Growth abnormality	2304	FOXE1	ORPHA:95713
HP:0001507	Growth abnormality	54974	THG1L	OMIM:618800
HP:0001507	Growth abnormality	1292	COL6A2	OMIM:255600
HP:0001507	Growth abnormality	9056	SLC7A7	OMIM:222700
HP:0001507	Growth abnormality	1729	DIAPH1	OMIM:616632
HP:0001507	Growth abnormality	175	AGA	OMIM:208400
HP:0001507	Growth abnormality	2239	GPC4	ORPHA:2662
HP:0001507	Growth abnormality	116442	RAB39B	OMIM:300271
HP:0001507	Growth abnormality	7874	USP7	ORPHA:500055
HP:0001507	Growth abnormality	55325	UFSP2	OMIM:617974
HP:0001507	Growth abnormality	8087	FXR1	OMIM:618822
HP:0001507	Growth abnormality	5205	ATP8B1	OMIM:211600
HP:0001507	Growth abnormality	285175	UNC80	ORPHA:371364
HP:0001507	Growth abnormality	9918	NCAPD2	OMIM:617983
HP:0001507	Growth abnormality	54870	QRICH1	OMIM:617982
HP:0001507	Growth abnormality	3295	HSD17B4	OMIM:233400
HP:0001507	Growth abnormality	2819	GPD1	OMIM:614480
HP:0001507	Growth abnormality	8815	BANF1	OMIM:614008
HP:0001507	Growth abnormality	10312	TCIRG1	ORPHA:1782
HP:0001507	Growth abnormality	9130	FAM50A	OMIM:300261
HP:0001507	Growth abnormality	5307	PITX1	OMIM:119800
HP:0001507	Growth abnormality	55651	NHP2	ORPHA:1775
HP:0001507	Growth abnormality	55135	WRAP53	ORPHA:1775
HP:0001507	Growth abnormality	4869	NPM1	ORPHA:1775
HP:0001507	Growth abnormality	7012	TERC	ORPHA:1775
HP:0001507	Growth abnormality	55505	NOP10	ORPHA:1775
HP:0001507	Growth abnormality	6736	SRY	ORPHA:1772
HP:0001507	Growth abnormality	84196	USP48	ORPHA:96253
HP:0001507	Growth abnormality	7157	TP53	ORPHA:96253
HP:0001507	Growth abnormality	7157	TP53	ORPHA:1501
HP:0001507	Growth abnormality	9101	USP8	ORPHA:96253
HP:0001507	Growth abnormality	64072	CDH23	ORPHA:96253
HP:0001507	Growth abnormality	2908	NR3C1	ORPHA:96253
HP:0001507	Growth abnormality	673	BRAF	ORPHA:96253
HP:0001507	Growth abnormality	546	ATRX	ORPHA:96253
HP:0001507	Growth abnormality	64324	NSD1	OMIM:117550
HP:0001507	Growth abnormality	10743	RAI1	OMIM:182290
HP:0001507	Growth abnormality	5566	PRKACA	OMIM:615830
HP:0001507	Growth abnormality	5566	PRKACA	ORPHA:189439
HP:0001507	Growth abnormality	8622	PDE8B	ORPHA:189439
HP:0001507	Growth abnormality	5573	PRKAR1A	ORPHA:189439
HP:0001507	Growth abnormality	5573	PRKAR1A	ORPHA:1501
HP:0001507	Growth abnormality	5573	PRKAR1A	ORPHA:1359
HP:0001507	Growth abnormality	50940	PDE11A	ORPHA:189439
HP:0001507	Growth abnormality	50940	PDE11A	ORPHA:1359
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:398069
HP:0001507	Growth abnormality	540	ATP7B	ORPHA:905
HP:0001507	Growth abnormality	5257	PHKB	ORPHA:79240
HP:0001507	Growth abnormality	79798	ARMC5	OMIM:615954
HP:0001507	Growth abnormality	79798	ARMC5	ORPHA:189427
HP:0001507	Growth abnormality	7068	THRB	OMIM:274300
HP:0001507	Growth abnormality	4221	MEN1	ORPHA:97279
HP:0001507	Growth abnormality	7528	YY1	ORPHA:97279
HP:0001507	Growth abnormality	84133	ZNRF3	ORPHA:1501
HP:0001507	Growth abnormality	1499	CTNNB1	ORPHA:1501
HP:0001507	Growth abnormality	1029	CDKN2A	ORPHA:1501
HP:0001507	Growth abnormality	7015	TERT	ORPHA:1501
HP:0001507	Growth abnormality	7319	UBE2A	OMIM:300860
HP:0001507	Growth abnormality	3172	HNF4A	ORPHA:263455
HP:0001507	Growth abnormality	55023	PHIP	ORPHA:589905
HP:0001507	Growth abnormality	5256	PHKA2	ORPHA:264580
HP:0001507	Growth abnormality	5261	PHKG2	ORPHA:264580
HP:0001507	Growth abnormality	7067	THRA	OMIM:614450
HP:0001507	Growth abnormality	2778	GNAS	ORPHA:189427
HP:0001507	Growth abnormality	3075	CFH	ORPHA:244242
HP:0001507	Growth abnormality	3426	CFI	ORPHA:244242
HP:0001507	Growth abnormality	4179	CD46	ORPHA:244242
HP:0001507	Growth abnormality	101101692	HELLPAR	ORPHA:244242
HP:0001507	Growth abnormality	64132	XYLT2	OMIM:605822
HP:0001507	Growth abnormality	51574	LARP7	OMIM:615071
HP:0001507	Growth abnormality	23141	ANKLE2	OMIM:616681
HP:0001507	Growth abnormality	10785	WDR4	OMIM:618346
HP:0001507	Growth abnormality	10785	WDR4	OMIM:618347
HP:0001507	Growth abnormality	151648	SGO1	OMIM:616201
HP:0001507	Growth abnormality	83932	SPRTN	OMIM:616200
HP:0001507	Growth abnormality	23019	CNOT1	OMIM:619033
HP:0001507	Growth abnormality	54517	PUS7	OMIM:618342
HP:0001507	Growth abnormality	8573	CASK	OMIM:300749
HP:0001507	Growth abnormality	2629	GBA1	OMIM:608013
HP:0001507	Growth abnormality	2629	GBA1	OMIM:231000
HP:0001507	Growth abnormality	5324	PLAG1	OMIM:618907
HP:0001507	Growth abnormality	10084	PQBP1	ORPHA:93950
HP:0001507	Growth abnormality	10084	PQBP1	ORPHA:93945
HP:0001507	Growth abnormality	5745	PTH1R	OMIM:600002
HP:0001507	Growth abnormality	3481	IGF2	ORPHA:231140
HP:0001507	Growth abnormality	3481	IGF2	OMIM:616489
HP:0001507	Growth abnormality	283120	H19	ORPHA:231140
HP:0001507	Growth abnormality	10479	SLC9A6	OMIM:300243
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:89842
HP:0001507	Growth abnormality	55215	FANCI	OMIM:609053
HP:0001507	Growth abnormality	25914	RTTN	OMIM:614833
HP:0001507	Growth abnormality	50	ACO2	OMIM:614559
HP:0001507	Growth abnormality	4286	MITF	OMIM:617306
HP:0001507	Growth abnormality	2067	ERCC1	OMIM:610758
HP:0001507	Growth abnormality	3908	LAMA2	ORPHA:258
HP:0001507	Growth abnormality	55249	YY1AP1	OMIM:602531
HP:0001507	Growth abnormality	6197	RPS6KA3	OMIM:303600
HP:0001507	Growth abnormality	64135	IFIH1	OMIM:182250
HP:0001507	Growth abnormality	57190	SELENON	OMIM:602771
HP:0001507	Growth abnormality	4784	NFIX	OMIM:602535
HP:0001507	Growth abnormality	79868	ALG13	ORPHA:324422
HP:0001507	Growth abnormality	254394	MCM9	OMIM:616185
HP:0001507	Growth abnormality	54453	RIN2	OMIM:613075
HP:0001507	Growth abnormality	25885	POLR1A	OMIM:616462
HP:0001507	Growth abnormality	7343	UBTF	OMIM:617672
HP:0001507	Growth abnormality	2072	ERCC4	OMIM:278760
HP:0001507	Growth abnormality	83987	CCDC8	OMIM:614205
HP:0001507	Growth abnormality	3858	KRT10	OMIM:609165
HP:0001507	Growth abnormality	7703	PCGF2	OMIM:618371
HP:0001507	Growth abnormality	3479	IGF1	OMIM:608747
HP:0001507	Growth abnormality	1327	COX4I1	OMIM:619060
HP:0001507	Growth abnormality	1760	DMPK	ORPHA:589821
HP:0001507	Growth abnormality	271	AMPD2	ORPHA:401805
HP:0001507	Growth abnormality	372	ARCN1	OMIM:617164
HP:0001507	Growth abnormality	7156	TOP3A	OMIM:618097
HP:0001507	Growth abnormality	4174	MCM5	OMIM:617564
HP:0001507	Growth abnormality	7403	KDM6A	OMIM:300867
HP:0001507	Growth abnormality	649	BMP1	OMIM:614856
HP:0001507	Growth abnormality	6304	SATB1	OMIM:619229
HP:0001507	Growth abnormality	9419	CRIPT	OMIM:615789
HP:0001507	Growth abnormality	4000	LMNA	ORPHA:79474
HP:0001507	Growth abnormality	55768	NGLY1	OMIM:615273
HP:0001507	Growth abnormality	339983	NAT8L	OMIM:614063
HP:0001507	Growth abnormality	54809	SAMD9	OMIM:617053
HP:0001507	Growth abnormality	57003	CCDC47	OMIM:618268
HP:0001507	Growth abnormality	29081	METTL5	OMIM:618665
HP:0001507	Growth abnormality	29895	MYL11	OMIM:619110
HP:0001507	Growth abnormality	55773	TBC1D23	OMIM:617695
HP:0001507	Growth abnormality	8558	CDK10	OMIM:617694
HP:0001507	Growth abnormality	145173	B3GLCT	OMIM:261540
HP:0001507	Growth abnormality	5530	PPP3CA	OMIM:618265
HP:0001507	Growth abnormality	6711	SPTBN1	OMIM:619475
HP:0001507	Growth abnormality	51633	OTUD6B	OMIM:617452
HP:0001507	Growth abnormality	51633	OTUD6B	ORPHA:505237
HP:0001507	Growth abnormality	3643	INSR	ORPHA:508
HP:0001507	Growth abnormality	80152	CENPT	OMIM:618702
HP:0001507	Growth abnormality	150468	CKAP2L	OMIM:272440
HP:0001507	Growth abnormality	8720	MBTPS1	OMIM:618392
HP:0001507	Growth abnormality	79718	TBL1XR1	OMIM:602342
HP:0001507	Growth abnormality	2316	FLNA	OMIM:300321
HP:0001507	Growth abnormality	54880	BCOR	OMIM:300166
HP:0001507	Growth abnormality	5162	PDHB	ORPHA:255138
HP:0001507	Growth abnormality	8567	MADD	OMIM:619004
HP:0001507	Growth abnormality	8567	MADD	OMIM:619005
HP:0001507	Growth abnormality	8318	CDC45	OMIM:617063
HP:0001507	Growth abnormality	1654	DDX3X	OMIM:300958
HP:0001507	Growth abnormality	93587	TRMT10A	ORPHA:391408
HP:0001507	Growth abnormality	84919	PPP1R15B	ORPHA:391408
HP:0001507	Growth abnormality	126792	B3GALT6	OMIM:271640
HP:0001507	Growth abnormality	126792	B3GALT6	OMIM:615349
HP:0001507	Growth abnormality	8242	KDM5C	OMIM:300534
HP:0001507	Growth abnormality	9968	MED12	OMIM:300895
HP:0001507	Growth abnormality	3739	KCNA4	OMIM:618284
HP:0001507	Growth abnormality	85365	ALG2	OMIM:607906
HP:0001507	Growth abnormality	2806	GOT2	OMIM:618721
HP:0001507	Growth abnormality	55835	CENPJ	OMIM:613676
HP:0001507	Growth abnormality	5824	PEX19	OMIM:614886
HP:0001507	Growth abnormality	1788	DNMT3A	OMIM:618724
HP:0001507	Growth abnormality	3339	HSPG2	ORPHA:800
HP:0001507	Growth abnormality	9451	EIF2AK3	ORPHA:1667
HP:0001507	Growth abnormality	506	ATP5F1B	OMIM:620085
HP:0001507	Growth abnormality	4204	MECP2	OMIM:300260
HP:0001507	Growth abnormality	5611	DNAJC3	ORPHA:445062
HP:0001507	Growth abnormality	1804	DPP6	OMIM:616311
HP:0001507	Growth abnormality	83452	RAB33B	OMIM:615222
HP:0001507	Growth abnormality	22930	RAB3GAP1	OMIM:619420
HP:0001507	Growth abnormality	9276	COPB2	OMIM:617800
HP:0001507	Growth abnormality	10892	MALT1	OMIM:615468
HP:0001507	Growth abnormality	529	ATP6V1E1	OMIM:617402
HP:0001507	Growth abnormality	5426	POLE	OMIM:618336
HP:0001507	Growth abnormality	2693	GHSR	ORPHA:314811
HP:0001507	Growth abnormality	27445	PCLO	OMIM:608027
HP:0001507	Growth abnormality	3480	IGF1R	OMIM:270450
HP:0001507	Growth abnormality	27152	INTU	OMIM:617926
HP:0001507	Growth abnormality	8506	CNTNAP1	OMIM:618186
HP:0001507	Growth abnormality	1080	CFTR	ORPHA:60033
HP:0001507	Growth abnormality	1890	TYMP	OMIM:603041
HP:0001507	Growth abnormality	1890	TYMP	ORPHA:298
HP:0001507	Growth abnormality	5428	POLG	OMIM:603041
HP:0001507	Growth abnormality	5428	POLG	OMIM:613662
HP:0001507	Growth abnormality	5428	POLG	ORPHA:298
HP:0001507	Growth abnormality	811	CALR	ORPHA:824
HP:0001507	Growth abnormality	3717	JAK2	ORPHA:824
HP:0001507	Growth abnormality	54790	TET2	ORPHA:824
HP:0001507	Growth abnormality	7040	TGFB1	ORPHA:1328
HP:0001507	Growth abnormality	9935	MAFB	ORPHA:2774
HP:0001507	Growth abnormality	2521	FUS	ORPHA:300605
HP:0001507	Growth abnormality	80208	SPG11	ORPHA:300605
HP:0001507	Growth abnormality	10280	SIGMAR1	ORPHA:300605
HP:0001507	Growth abnormality	10558	SPTLC1	ORPHA:300605
HP:0001507	Growth abnormality	2130	EWSR1	ORPHA:83469
HP:0001507	Growth abnormality	2670	GFAP	ORPHA:363717
HP:0001507	Growth abnormality	3662	IRF4	ORPHA:3452
HP:0001507	Growth abnormality	3980	LIG3	ORPHA:298
HP:0001507	Growth abnormality	3988	LIPA	ORPHA:75233
HP:0001507	Growth abnormality	9663	LPIN2	ORPHA:77297
HP:0001507	Growth abnormality	34	ACADM	ORPHA:42
HP:0001507	Growth abnormality	50943	FOXP3	ORPHA:37042
HP:0001507	Growth abnormality	2581	GALC	ORPHA:206436
HP:0001507	Growth abnormality	5660	PSAP	ORPHA:206436
HP:0001507	Growth abnormality	4693	NDP	ORPHA:649
HP:0001507	Growth abnormality	10273	STUB1	OMIM:618093
HP:0001507	Growth abnormality	256297	PTF1A	OMIM:609069
HP:0001507	Growth abnormality	85465	SELENOI	ORPHA:506353
HP:0001507	Growth abnormality	2625	GATA3	ORPHA:2237
HP:0001507	Growth abnormality	5557	PRIM1	OMIM:620005
HP:0001507	Growth abnormality	7466	WFS1	ORPHA:411590
HP:0001507	Growth abnormality	7252	TSHB	OMIM:275100
HP:0001507	Growth abnormality	6524	SLC5A2	ORPHA:69076
HP:0001507	Growth abnormality	5896	RAG1	OMIM:601457
HP:0001507	Growth abnormality	5897	RAG2	OMIM:601457
HP:0001507	Growth abnormality	915	CD3D	ORPHA:169160
HP:0001507	Growth abnormality	916	CD3E	ORPHA:169160
HP:0001507	Growth abnormality	3575	IL7R	OMIM:608971
HP:0001507	Growth abnormality	9653	HS2ST1	OMIM:619194
HP:0001507	Growth abnormality	4921	DDR2	OMIM:271665
HP:0001507	Growth abnormality	23169	SLC35D1	ORPHA:3144
HP:0001507	Growth abnormality	23169	SLC35D1	OMIM:269250
HP:0001507	Growth abnormality	64175	P3H1	OMIM:610915
HP:0001507	Growth abnormality	11014	KDELR2	OMIM:619131
HP:0001507	Growth abnormality	23184	MESD	OMIM:618644
HP:0001507	Growth abnormality	5479	PPIB	OMIM:259440
HP:0001507	Growth abnormality	406932	MIR140	OMIM:618618
HP:0001507	Growth abnormality	3930	LBR	OMIM:215140
HP:0001507	Growth abnormality	3930	LBR	ORPHA:1426
HP:0001507	Growth abnormality	3763	KCNJ6	ORPHA:435628
HP:0001507	Growth abnormality	3376	IARS1	OMIM:617093
HP:0001507	Growth abnormality	340533	NEXMIF	OMIM:300912
HP:0001507	Growth abnormality	5723	PSPH	OMIM:614023
HP:0001507	Growth abnormality	5723	PSPH	ORPHA:79350
HP:0001507	Growth abnormality	775	CACNA1C	OMIM:620029
HP:0001507	Growth abnormality	6718	AKR1D1	ORPHA:79303
HP:0001507	Growth abnormality	2767	GNA11	OMIM:615361
HP:0001507	Growth abnormality	1723	DHODH	OMIM:263750
HP:0001507	Growth abnormality	4552	MTRR	ORPHA:2169
HP:0001507	Growth abnormality	10381	TUBB3	ORPHA:300570
HP:0001507	Growth abnormality	2035	EPB41	ORPHA:288
HP:0001507	Growth abnormality	2995	GYPC	ORPHA:288
HP:0001507	Growth abnormality	6710	SPTB	ORPHA:288
HP:0001507	Growth abnormality	6708	SPTA1	ORPHA:288
HP:0001507	Growth abnormality	222663	SCUBE3	OMIM:619184
HP:0001507	Growth abnormality	6872	TAF1	ORPHA:480907
HP:0001507	Growth abnormality	6872	TAF1	OMIM:300966
HP:0001507	Growth abnormality	1105	CHD1	OMIM:617682
HP:0001507	Growth abnormality	1105	CHD1	ORPHA:529965
HP:0001507	Growth abnormality	790955	UQCC3	OMIM:616111
HP:0001507	Growth abnormality	6399	TRAPPC2	OMIM:313400
HP:0001507	Growth abnormality	26040	SETBP1	OMIM:269150
HP:0001507	Growth abnormality	2706	GJB2	ORPHA:477
HP:0001507	Growth abnormality	23345	SYNE1	ORPHA:319332
HP:0001507	Growth abnormality	78989	COLEC11	OMIM:265050
HP:0001507	Growth abnormality	78989	COLEC11	ORPHA:293843
HP:0001507	Growth abnormality	9338	TCEAL1	OMIM:301094
HP:0001507	Growth abnormality	5648	MASP1	OMIM:257920
HP:0001507	Growth abnormality	5648	MASP1	ORPHA:293843
HP:0001507	Growth abnormality	6514	SLC2A2	OMIM:227810
HP:0001507	Growth abnormality	10229	COQ7	OMIM:616733
HP:0001507	Growth abnormality	131118	DNAJC19	OMIM:610198
HP:0001507	Growth abnormality	6659	SOX4	ORPHA:1465
HP:0001507	Growth abnormality	6601	SMARCC2	ORPHA:1465
HP:0001507	Growth abnormality	6602	SMARCD1	ORPHA:1465
HP:0001507	Growth abnormality	1641	DCX	OMIM:300067
HP:0001507	Growth abnormality	8985	PLOD3	OMIM:612394
HP:0001507	Growth abnormality	57061	HYMAI	ORPHA:96191
HP:0001507	Growth abnormality	5325	PLAGL1	ORPHA:96191
HP:0001507	Growth abnormality	998	CDC42	ORPHA:487796
HP:0001507	Growth abnormality	54796	BNC2	ORPHA:93110
HP:0001507	Growth abnormality	84665	MYPN	ORPHA:75249
HP:0001507	Growth abnormality	2318	FLNC	ORPHA:75249
HP:0001507	Growth abnormality	7139	TNNT2	ORPHA:75249
HP:0001507	Growth abnormality	7137	TNNI3	ORPHA:75249
HP:0001507	Growth abnormality	10112	KIF20A	ORPHA:75249
HP:0001507	Growth abnormality	6925	TCF4	ORPHA:2896
HP:0001507	Growth abnormality	2887	GRB10	ORPHA:96182
HP:0001507	Growth abnormality	60528	ELAC2	OMIM:615440
HP:0001507	Growth abnormality	5456	POU3F4	ORPHA:1435
HP:0001507	Growth abnormality	57020	VPS35L	OMIM:619135
HP:0001507	Growth abnormality	1663	DDX11	OMIM:613398
HP:0001507	Growth abnormality	383	ARG1	OMIM:207800
HP:0001507	Growth abnormality	6522	SLC4A2	OMIM:620366
HP:0001507	Growth abnormality	1585	CYP11B2	ORPHA:556030
HP:0001507	Growth abnormality	10079	ATP9A	OMIM:620242
HP:0001507	Growth abnormality	10586	MAB21L2	OMIM:615877
HP:0001507	Growth abnormality	8540	AGPS	OMIM:600121
HP:0001507	Growth abnormality	8443	GNPAT	OMIM:222765
HP:0001507	Growth abnormality	55764	IFT122	ORPHA:1515
HP:0001507	Growth abnormality	55764	IFT122	OMIM:218330
HP:0001507	Growth abnormality	79087	ALG12	OMIM:607143
HP:0001507	Growth abnormality	2475	MTOR	OMIM:616638
HP:0001507	Growth abnormality	91461	PKDCC	OMIM:618821
HP:0001507	Growth abnormality	4796	TONSL	ORPHA:93357
HP:0001507	Growth abnormality	4796	TONSL	OMIM:271510
HP:0001507	Growth abnormality	79796	ALG9	ORPHA:79328
HP:0001507	Growth abnormality	23387	SIK3	OMIM:618162
HP:0001507	Growth abnormality	81570	CLPB	OMIM:616271
HP:0001507	Growth abnormality	25886	POC1A	OMIM:614813
HP:0001507	Growth abnormality	2879	GPX4	OMIM:250220
HP:0001507	Growth abnormality	5122	PCSK1	ORPHA:71528
HP:0001507	Growth abnormality	56623	INPP5E	OMIM:610156
HP:0001507	Growth abnormality	5443	POMC	ORPHA:71526
HP:0001507	Growth abnormality	5567	PRKACB	ORPHA:289
HP:0001507	Growth abnormality	1027	CDKN1B	ORPHA:652
HP:0001507	Growth abnormality	1026	CDKN1A	ORPHA:652
HP:0001507	Growth abnormality	1030	CDKN2B	ORPHA:652
HP:0001507	Growth abnormality	1031	CDKN2C	ORPHA:652
HP:0001507	Growth abnormality	5468	PPARG	ORPHA:528
HP:0001507	Growth abnormality	284119	CAVIN1	ORPHA:528
HP:0001507	Growth abnormality	2353	FOS	ORPHA:528
HP:0001507	Growth abnormality	7547	ZIC3	OMIM:306955
HP:0001507	Growth abnormality	2657	GDF1	OMIM:208530
HP:0001507	Growth abnormality	55997	CFC1	OMIM:605376
HP:0001507	Growth abnormality	10165	SLC25A13	ORPHA:247585
HP:0001507	Growth abnormality	10059	DNM1L	ORPHA:330050
HP:0001507	Growth abnormality	2488	FSHB	ORPHA:52901
HP:0001507	Growth abnormality	641	BLM	ORPHA:125
HP:0001507	Growth abnormality	3991	LIPE	OMIM:615980
HP:0001507	Growth abnormality	79576	NKAP	OMIM:301039
HP:0001507	Growth abnormality	9149	DYRK1B	OMIM:615812
HP:0001507	Growth abnormality	9049	AIP	OMIM:219090
HP:0001507	Growth abnormality	79140	CCDC28B	OMIM:209900
HP:0001507	Growth abnormality	2201	FBN2	OMIM:121050
HP:0001507	Growth abnormality	54805	CNNM2	OMIM:616418
HP:0001507	Growth abnormality	8462	KLF11	ORPHA:552
HP:0001507	Growth abnormality	26060	APPL1	ORPHA:552
HP:0001507	Growth abnormality	640	BLK	ORPHA:552
HP:0001507	Growth abnormality	640	BLK	OMIM:613375
HP:0001507	Growth abnormality	1056	CEL	ORPHA:552
HP:0001507	Growth abnormality	4760	NEUROD1	ORPHA:552
HP:0001507	Growth abnormality	5078	PAX4	ORPHA:552
HP:0001507	Growth abnormality	6927	HNF1A	ORPHA:552
HP:0001507	Growth abnormality	84679	SLC9A7	OMIM:301024
HP:0001507	Growth abnormality	55870	ASH1L	OMIM:617796
HP:0001507	Growth abnormality	146862	UNC45B	OMIM:619178
HP:0001507	Growth abnormality	22859	ADGRL1	OMIM:620065
HP:0001507	Growth abnormality	37	ACADVL	ORPHA:26793
HP:0001507	Growth abnormality	5244	ABCB4	ORPHA:69663
HP:0001507	Growth abnormality	219854	TMEM218	OMIM:619562
HP:0001507	Growth abnormality	3547	IGSF1	OMIM:300888
HP:0001507	Growth abnormality	23590	PDSS1	OMIM:614651
HP:0001507	Growth abnormality	51341	ZBTB7A	OMIM:619769
HP:0001507	Growth abnormality	9325	TRIP4	ORPHA:486815
HP:0001507	Growth abnormality	51780	KDM3B	OMIM:618846
HP:0001507	Growth abnormality	118856	MMP21	OMIM:616749
HP:0001507	Growth abnormality	152110	NEK10	OMIM:618781
HP:0001507	Growth abnormality	339829	CCDC39	OMIM:613807
HP:0001507	Growth abnormality	2321	FLT1	ORPHA:275555
HP:0001507	Growth abnormality	219736	STOX1	ORPHA:275555
HP:0001507	Growth abnormality	10699	CORIN	ORPHA:275555
HP:0001507	Growth abnormality	54919	DNAAF5	OMIM:614874
HP:0001507	Growth abnormality	100128908	CIROP	OMIM:619702
HP:0001507	Growth abnormality	83538	ODAD4	OMIM:617092
HP:0001507	Growth abnormality	6934	TCF7L2	OMIM:125853
HP:0001507	Growth abnormality	3990	LIPC	OMIM:125853
HP:0001507	Growth abnormality	9479	MAPK8IP1	OMIM:125853
HP:0001507	Growth abnormality	56729	RETN	OMIM:125853
HP:0001507	Growth abnormality	4544	MTNR1B	OMIM:125853
HP:0001507	Growth abnormality	5506	PPP1R3A	OMIM:125853
HP:0001507	Growth abnormality	10644	IGF2BP2	OMIM:125853
HP:0001507	Growth abnormality	5770	PTPN1	OMIM:125853
HP:0001507	Growth abnormality	8660	IRS2	OMIM:125853
HP:0001507	Growth abnormality	3159	HMGA1	OMIM:125853
HP:0001507	Growth abnormality	3667	IRS1	OMIM:125853
HP:0001507	Growth abnormality	169026	SLC30A8	OMIM:125853
HP:0001507	Growth abnormality	2820	GPD2	OMIM:125853
HP:0001507	Growth abnormality	154	ADRB2	OMIM:601665
HP:0001507	Growth abnormality	155	ADRB3	OMIM:601665
HP:0001507	Growth abnormality	7352	UCP3	OMIM:601665
HP:0001507	Growth abnormality	8431	NR0B2	OMIM:601665
HP:0001507	Growth abnormality	9607	CARTPT	OMIM:601665
HP:0001507	Growth abnormality	51738	GHRL	OMIM:601665
HP:0001507	Growth abnormality	9672	SDC3	OMIM:601665
HP:0001507	Growth abnormality	181	AGRP	OMIM:601665
HP:0001507	Growth abnormality	1770	DNAH9	OMIM:618300
HP:0001507	Growth abnormality	2947	GSTM3	ORPHA:586
HP:0001507	Growth abnormality	2729	GCLC	ORPHA:586
HP:0001507	Growth abnormality	1084	CEACAM3	ORPHA:586
HP:0001507	Growth abnormality	51164	DCTN4	ORPHA:586
HP:0001507	Growth abnormality	3783	KCNN4	ORPHA:586
HP:0001507	Growth abnormality	4282	MIF	ORPHA:586
HP:0001507	Growth abnormality	1909	EDNRA	ORPHA:586
HP:0001507	Growth abnormality	6550	SLC9A3	ORPHA:586
HP:0001507	Growth abnormality	3162	HMOX1	ORPHA:586
HP:0001507	Growth abnormality	115019	SLC26A9	ORPHA:586
HP:0001507	Growth abnormality	11254	SLC6A14	ORPHA:586
HP:0001507	Growth abnormality	5265	SERPINA1	ORPHA:586
HP:0001507	Growth abnormality	22802	CLCA4	ORPHA:586
HP:0001507	Growth abnormality	4680	CEACAM6	ORPHA:586
HP:0001507	Growth abnormality	5921	RASA1	ORPHA:90307
HP:0001507	Growth abnormality	151188	ARL6IP6	ORPHA:1556
HP:0001507	Growth abnormality	2776	GNAQ	ORPHA:624
HP:0001507	Growth abnormality	55209	SETD5	ORPHA:404440
HP:0001507	Growth abnormality	55209	SETD5	OMIM:615761
HP:0001507	Growth abnormality	3110	MNX1	ORPHA:1552
HP:0001508	Failure to thrive	1718	DHCR24	OMIM:602398
HP:0001508	Failure to thrive	1718	DHCR24	ORPHA:35107
HP:0001508	Failure to thrive	3651	PDX1	OMIM:260370
HP:0001508	Failure to thrive	3651	PDX1	ORPHA:99885
HP:0001508	Failure to thrive	4524	MTHFR	ORPHA:395
HP:0001508	Failure to thrive	6555	SLC10A2	OMIM:613291
HP:0001508	Failure to thrive	7428	VHL	OMIM:263400
HP:0001508	Failure to thrive	26235	FBXL4	OMIM:615471
HP:0001508	Failure to thrive	340533	NEXMIF	OMIM:300912
HP:0001508	Failure to thrive	5913	RAPSN	OMIM:616326
HP:0001508	Failure to thrive	79827	CLMP	OMIM:615237
HP:0001508	Failure to thrive	10059	DNM1L	OMIM:614388
HP:0001508	Failure to thrive	5238	PGM3	ORPHA:443811
HP:0001508	Failure to thrive	5238	PGM3	OMIM:615816
HP:0001508	Failure to thrive	4897	NRCAM	OMIM:619833
HP:0001508	Failure to thrive	84334	COA8	ORPHA:436271
HP:0001508	Failure to thrive	1131	CHRM3	ORPHA:2970
HP:0001508	Failure to thrive	51	ACOX1	ORPHA:2971
HP:0001508	Failure to thrive	3909	LAMA3	ORPHA:79404
HP:0001508	Failure to thrive	3909	LAMA3	OMIM:226700
HP:0001508	Failure to thrive	3918	LAMC2	ORPHA:79404
HP:0001508	Failure to thrive	3918	LAMC2	OMIM:226700
HP:0001508	Failure to thrive	3914	LAMB3	ORPHA:79404
HP:0001508	Failure to thrive	3914	LAMB3	OMIM:226700
HP:0001508	Failure to thrive	4552	MTRR	OMIM:236270
HP:0001508	Failure to thrive	4552	MTRR	ORPHA:2169
HP:0001508	Failure to thrive	197131	UBR1	OMIM:243800
HP:0001508	Failure to thrive	197131	UBR1	ORPHA:2315
HP:0001508	Failure to thrive	3481	IGF2	ORPHA:231144
HP:0001508	Failure to thrive	283120	H19	ORPHA:231144
HP:0001508	Failure to thrive	80816	ASXL3	OMIM:615485
HP:0001508	Failure to thrive	4141	MARS1	OMIM:615486
HP:0001508	Failure to thrive	5651	TMPRSS15	OMIM:226200
HP:0001508	Failure to thrive	27245	AHDC1	ORPHA:412069
HP:0001508	Failure to thrive	27245	AHDC1	OMIM:615829
HP:0001508	Failure to thrive	166378	AFG2A	OMIM:616577
HP:0001508	Failure to thrive	5184	PEPD	OMIM:170100
HP:0001508	Failure to thrive	84466	MEGF10	OMIM:614399
HP:0001508	Failure to thrive	10686	CLDN16	OMIM:248250
HP:0001508	Failure to thrive	16	AARS1	OMIM:616339
HP:0001508	Failure to thrive	16	AARS1	ORPHA:442835
HP:0001508	Failure to thrive	3716	JAK1	OMIM:618999
HP:0001508	Failure to thrive	3508	IGHMBP2	OMIM:604320
HP:0001508	Failure to thrive	55768	NGLY1	ORPHA:404454
HP:0001508	Failure to thrive	1161	ERCC8	OMIM:216400
HP:0001508	Failure to thrive	1161	ERCC8	ORPHA:90321
HP:0001508	Failure to thrive	79158	GNPTAB	OMIM:252500
HP:0001508	Failure to thrive	7252	TSHB	ORPHA:90674
HP:0001508	Failure to thrive	29957	SLC25A24	ORPHA:2963
HP:0001508	Failure to thrive	29957	SLC25A24	OMIM:612289
HP:0001508	Failure to thrive	2188	FANCF	OMIM:603467
HP:0001508	Failure to thrive	284403	WDR62	OMIM:604317
HP:0001508	Failure to thrive	8029	CUBN	ORPHA:35858
HP:0001508	Failure to thrive	81693	AMN	ORPHA:35858
HP:0001508	Failure to thrive	2212	FCGR2A	OMIM:219700
HP:0001508	Failure to thrive	7040	TGFB1	OMIM:219700
HP:0001508	Failure to thrive	7040	TGFB1	ORPHA:586
HP:0001508	Failure to thrive	7040	TGFB1	OMIM:618213
HP:0001508	Failure to thrive	1080	CFTR	OMIM:219700
HP:0001508	Failure to thrive	1080	CFTR	ORPHA:586
HP:0001508	Failure to thrive	6023	RMRP	ORPHA:175
HP:0001508	Failure to thrive	6023	RMRP	ORPHA:39041
HP:0001508	Failure to thrive	3190	HNRNPK	OMIM:616580
HP:0001508	Failure to thrive	4089	SMAD4	OMIM:174900
HP:0001508	Failure to thrive	657	BMPR1A	OMIM:174900
HP:0001508	Failure to thrive	1777	DNASE2	OMIM:619858
HP:0001508	Failure to thrive	1716	DGUOK	OMIM:251880
HP:0001508	Failure to thrive	857	CAV1	OMIM:606721
HP:0001508	Failure to thrive	857	CAV1	ORPHA:528
HP:0001508	Failure to thrive	1594	CYP27B1	OMIM:264700
HP:0001508	Failure to thrive	1594	CYP27B1	ORPHA:289157
HP:0001508	Failure to thrive	23327	NEDD4L	OMIM:617201
HP:0001508	Failure to thrive	5073	PARN	OMIM:616353
HP:0001508	Failure to thrive	5073	PARN	ORPHA:3322
HP:0001508	Failure to thrive	8550	MAPKAPK5	OMIM:619869
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93926
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93924
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93925
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:220386
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93926
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93924
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93925
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:220386
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93926
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93924
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93925
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:220386
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93926
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93924
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93925
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:220386
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93926
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93924
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93925
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:220386
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93926
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93924
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93925
HP:0001508	Failure to thrive	6469	SHH	ORPHA:220386
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93926
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93924
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93925
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:220386
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93926
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93924
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93925
HP:0001508	Failure to thrive	6491	STIL	ORPHA:220386
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93926
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93924
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93925
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:220386
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93926
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93924
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93925
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:220386
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93926
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93924
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93925
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:220386
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93926
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93924
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93925
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:220386
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93926
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93924
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93925
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:220386
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93926
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93924
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93925
HP:0001508	Failure to thrive	50937	CDON	ORPHA:95496
HP:0001508	Failure to thrive	50937	CDON	ORPHA:220386
HP:0001508	Failure to thrive	10125	RASGRP1	OMIM:618534
HP:0001508	Failure to thrive	23007	PLCH1	ORPHA:93925
HP:0001508	Failure to thrive	10735	STAG2	ORPHA:93925
HP:0001508	Failure to thrive	10735	STAG2	OMIM:301022
HP:0001508	Failure to thrive	10735	STAG2	ORPHA:220386
HP:0001508	Failure to thrive	89910	UBE3B	ORPHA:2707
HP:0001508	Failure to thrive	89910	UBE3B	OMIM:244450
HP:0001508	Failure to thrive	4645	MYO5B	OMIM:619868
HP:0001508	Failure to thrive	10716	TBR1	ORPHA:1617
HP:0001508	Failure to thrive	4247	MGAT2	OMIM:212066
HP:0001508	Failure to thrive	4247	MGAT2	ORPHA:79329
HP:0001508	Failure to thrive	5373	PMM2	OMIM:212065
HP:0001508	Failure to thrive	5373	PMM2	ORPHA:79318
HP:0001508	Failure to thrive	63901	FAM111A	OMIM:602361
HP:0001508	Failure to thrive	2316	FLNA	ORPHA:90652
HP:0001508	Failure to thrive	2316	FLNA	OMIM:309350
HP:0001508	Failure to thrive	26154	ABCA12	OMIM:242500
HP:0001508	Failure to thrive	26154	ABCA12	ORPHA:79394
HP:0001508	Failure to thrive	11285	B4GALT7	OMIM:130070
HP:0001508	Failure to thrive	1187	CLCNKA	OMIM:613090
HP:0001508	Failure to thrive	1187	CLCNKA	ORPHA:89938
HP:0001508	Failure to thrive	1188	CLCNKB	OMIM:613090
HP:0001508	Failure to thrive	1188	CLCNKB	ORPHA:358
HP:0001508	Failure to thrive	1188	CLCNKB	ORPHA:89938
HP:0001508	Failure to thrive	23126	POGZ	OMIM:616364
HP:0001508	Failure to thrive	120227	CYP2R1	ORPHA:289157
HP:0001508	Failure to thrive	120227	CYP2R1	OMIM:600081
HP:0001508	Failure to thrive	51633	OTUD6B	OMIM:617452
HP:0001508	Failure to thrive	51633	OTUD6B	ORPHA:505237
HP:0001508	Failure to thrive	4261	CIITA	OMIM:209920
HP:0001508	Failure to thrive	4261	CIITA	ORPHA:572
HP:0001508	Failure to thrive	5994	RFXAP	OMIM:209920
HP:0001508	Failure to thrive	5994	RFXAP	ORPHA:572
HP:0001508	Failure to thrive	5993	RFX5	OMIM:209920
HP:0001508	Failure to thrive	5993	RFX5	ORPHA:572
HP:0001508	Failure to thrive	8625	RFXANK	OMIM:209920
HP:0001508	Failure to thrive	8625	RFXANK	ORPHA:572
HP:0001508	Failure to thrive	92609	TIMM50	OMIM:617698
HP:0001508	Failure to thrive	92609	TIMM50	ORPHA:505216
HP:0001508	Failure to thrive	51692	CPSF3	OMIM:619876
HP:0001508	Failure to thrive	5590	PRKCZ	ORPHA:1606
HP:0001508	Failure to thrive	2563	GABRD	ORPHA:1606
HP:0001508	Failure to thrive	23013	SPEN	ORPHA:1606
HP:0001508	Failure to thrive	8510	MMP23B	ORPHA:1606
HP:0001508	Failure to thrive	7798	LUZP1	ORPHA:1606
HP:0001508	Failure to thrive	6497	SKI	ORPHA:1606
HP:0001508	Failure to thrive	6497	SKI	ORPHA:2462
HP:0001508	Failure to thrive	10630	PDPN	ORPHA:1606
HP:0001508	Failure to thrive	3339	HSPG2	ORPHA:1606
HP:0001508	Failure to thrive	10277	UBE4B	ORPHA:1606
HP:0001508	Failure to thrive	8514	KCNAB2	ORPHA:1606
HP:0001508	Failure to thrive	473	RERE	ORPHA:1606
HP:0001508	Failure to thrive	63976	PRDM16	ORPHA:1606
HP:0001508	Failure to thrive	54897	CASZ1	ORPHA:1606
HP:0001508	Failure to thrive	2517	FUCA1	ORPHA:349
HP:0001508	Failure to thrive	472	ATM	ORPHA:100
HP:0001508	Failure to thrive	472	ATM	OMIM:208900
HP:0001508	Failure to thrive	3507	IGHM	OMIM:601495
HP:0001508	Failure to thrive	3507	IGHM	ORPHA:33110
HP:0001508	Failure to thrive	79718	TBL1XR1	OMIM:602342
HP:0001508	Failure to thrive	2947	GSTM3	ORPHA:586
HP:0001508	Failure to thrive	2729	GCLC	ORPHA:586
HP:0001508	Failure to thrive	1084	CEACAM3	ORPHA:586
HP:0001508	Failure to thrive	6556	SLC11A1	ORPHA:586
HP:0001508	Failure to thrive	51164	DCTN4	ORPHA:586
HP:0001508	Failure to thrive	3783	KCNN4	ORPHA:586
HP:0001508	Failure to thrive	4282	MIF	ORPHA:586
HP:0001508	Failure to thrive	1909	EDNRA	ORPHA:586
HP:0001508	Failure to thrive	6550	SLC9A3	ORPHA:586
HP:0001508	Failure to thrive	3162	HMOX1	ORPHA:586
HP:0001508	Failure to thrive	115019	SLC26A9	ORPHA:586
HP:0001508	Failure to thrive	3077	HFE	ORPHA:586
HP:0001508	Failure to thrive	11254	SLC6A14	ORPHA:586
HP:0001508	Failure to thrive	5265	SERPINA1	ORPHA:586
HP:0001508	Failure to thrive	22802	CLCA4	ORPHA:586
HP:0001508	Failure to thrive	4680	CEACAM6	ORPHA:586
HP:0001508	Failure to thrive	57169	ZNFX1	OMIM:619644
HP:0001508	Failure to thrive	2232	FDXR	ORPHA:543470
HP:0001508	Failure to thrive	11311	VPS45	OMIM:615285
HP:0001508	Failure to thrive	113179	ADAT3	OMIM:615286
HP:0001508	Failure to thrive	113179	ADAT3	ORPHA:363528
HP:0001508	Failure to thrive	50485	SMARCAL1	ORPHA:1830
HP:0001508	Failure to thrive	4285	MIPEP	OMIM:617228
HP:0001508	Failure to thrive	6901	TAFAZZIN	OMIM:302060
HP:0001508	Failure to thrive	90	ACVR1	ORPHA:337
HP:0001508	Failure to thrive	4351	MPI	OMIM:602579
HP:0001508	Failure to thrive	4351	MPI	ORPHA:79319
HP:0001508	Failure to thrive	5354	PLP1	OMIM:312080
HP:0001508	Failure to thrive	5354	PLP1	ORPHA:280210
HP:0001508	Failure to thrive	6603	SMARCD2	OMIM:617475
HP:0001508	Failure to thrive	111	ADCY5	OMIM:619651
HP:0001508	Failure to thrive	125988	MICOS13	OMIM:618329
HP:0001508	Failure to thrive	1585	CYP11B2	OMIM:610600
HP:0001508	Failure to thrive	1585	CYP11B2	OMIM:203400
HP:0001508	Failure to thrive	1585	CYP11B2	ORPHA:556030
HP:0001508	Failure to thrive	2184	FAH	OMIM:276700
HP:0001508	Failure to thrive	56246	MRAP	ORPHA:361
HP:0001508	Failure to thrive	6770	STAR	ORPHA:361
HP:0001508	Failure to thrive	4158	MC2R	ORPHA:361
HP:0001508	Failure to thrive	4158	MC2R	OMIM:202200
HP:0001508	Failure to thrive	23530	NNT	ORPHA:361
HP:0001508	Failure to thrive	23530	NNT	OMIM:614736
HP:0001508	Failure to thrive	10587	TXNRD2	ORPHA:361
HP:0001508	Failure to thrive	91252	SLC39A13	ORPHA:157965
HP:0001508	Failure to thrive	404672	GTF2H5	OMIM:616395
HP:0001508	Failure to thrive	25970	SH2B1	ORPHA:261197
HP:0001508	Failure to thrive	9742	IFT140	OMIM:266920
HP:0001508	Failure to thrive	205327	C2orf69	OMIM:619423
HP:0001508	Failure to thrive	27429	HTRA2	OMIM:617248
HP:0001508	Failure to thrive	6559	SLC12A3	ORPHA:358
HP:0001508	Failure to thrive	6559	SLC12A3	OMIM:263800
HP:0001508	Failure to thrive	389827	MYMK	OMIM:254940
HP:0001508	Failure to thrive	3479	IGF1	ORPHA:73272
HP:0001508	Failure to thrive	291	SLC25A4	ORPHA:254892
HP:0001508	Failure to thrive	5428	POLG	ORPHA:254892
HP:0001508	Failure to thrive	5428	POLG	OMIM:203700
HP:0001508	Failure to thrive	56652	TWNK	ORPHA:254892
HP:0001508	Failure to thrive	11232	POLG2	ORPHA:254892
HP:0001508	Failure to thrive	11232	POLG2	OMIM:610131
HP:0001508	Failure to thrive	50484	RRM2B	ORPHA:254892
HP:0001508	Failure to thrive	50484	RRM2B	OMIM:612075
HP:0001508	Failure to thrive	2074	ERCC6	OMIM:133540
HP:0001508	Failure to thrive	2074	ERCC6	ORPHA:90321
HP:0001508	Failure to thrive	2074	ERCC6	OMIM:214150
HP:0001508	Failure to thrive	57190	SELENON	ORPHA:324604
HP:0001508	Failure to thrive	57190	SELENON	OMIM:602771
HP:0001508	Failure to thrive	57190	SELENON	ORPHA:2020
HP:0001508	Failure to thrive	4625	MYH7	ORPHA:324604
HP:0001508	Failure to thrive	7273	TTN	ORPHA:324604
HP:0001508	Failure to thrive	9488	PIGB	OMIM:618580
HP:0001508	Failure to thrive	4558	MT-TF	ORPHA:550
HP:0001508	Failure to thrive	4572	MT-TQ	ORPHA:550
HP:0001508	Failure to thrive	4512	MT-CO1	ORPHA:550
HP:0001508	Failure to thrive	4513	MT-CO2	ORPHA:550
HP:0001508	Failure to thrive	4514	MT-CO3	ORPHA:550
HP:0001508	Failure to thrive	4578	MT-TW	ORPHA:550
HP:0001508	Failure to thrive	4578	MT-TW	ORPHA:255210
HP:0001508	Failure to thrive	4540	MT-ND5	ORPHA:550
HP:0001508	Failure to thrive	4540	MT-ND5	ORPHA:255210
HP:0001508	Failure to thrive	4541	MT-ND6	ORPHA:550
HP:0001508	Failure to thrive	4541	MT-ND6	ORPHA:255210
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:550
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:2609
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:255210
HP:0001508	Failure to thrive	4538	MT-ND4	ORPHA:550
HP:0001508	Failure to thrive	4538	MT-ND4	ORPHA:255210
HP:0001508	Failure to thrive	4567	MT-TL1	ORPHA:550
HP:0001508	Failure to thrive	4567	MT-TL1	ORPHA:255210
HP:0001508	Failure to thrive	4574	MT-TS1	ORPHA:550
HP:0001508	Failure to thrive	4574	MT-TS1	OMIM:220110
HP:0001508	Failure to thrive	4575	MT-TS2	ORPHA:550
HP:0001508	Failure to thrive	4564	MT-TH	ORPHA:550
HP:0001508	Failure to thrive	1291	COL6A1	OMIM:254090
HP:0001508	Failure to thrive	1292	COL6A2	OMIM:254090
HP:0001508	Failure to thrive	1293	COL6A3	OMIM:254090
HP:0001508	Failure to thrive	10785	WDR4	OMIM:618346
HP:0001508	Failure to thrive	10564	ARFGEF2	OMIM:608097
HP:0001508	Failure to thrive	92335	STRADA	ORPHA:500533
HP:0001508	Failure to thrive	51259	TMEM216	OMIM:608091
HP:0001508	Failure to thrive	51259	TMEM216	ORPHA:2754
HP:0001508	Failure to thrive	9526	MPDU1	OMIM:609180
HP:0001508	Failure to thrive	8737	RIPK1	OMIM:618108
HP:0001508	Failure to thrive	79813	EHMT1	ORPHA:96147
HP:0001508	Failure to thrive	79813	EHMT1	ORPHA:261652
HP:0001508	Failure to thrive	959	CD40LG	OMIM:308230
HP:0001508	Failure to thrive	55630	SLC39A4	ORPHA:37
HP:0001508	Failure to thrive	55630	SLC39A4	OMIM:201100
HP:0001508	Failure to thrive	8540	AGPS	OMIM:600121
HP:0001508	Failure to thrive	5896	RAG1	OMIM:601457
HP:0001508	Failure to thrive	5896	RAG1	ORPHA:331206
HP:0001508	Failure to thrive	5896	RAG1	OMIM:603554
HP:0001508	Failure to thrive	5896	RAG1	ORPHA:39041
HP:0001508	Failure to thrive	5897	RAG2	OMIM:601457
HP:0001508	Failure to thrive	5897	RAG2	ORPHA:331206
HP:0001508	Failure to thrive	5897	RAG2	OMIM:603554
HP:0001508	Failure to thrive	5897	RAG2	ORPHA:39041
HP:0001508	Failure to thrive	2972	BRF1	ORPHA:444072
HP:0001508	Failure to thrive	29887	SNX10	OMIM:615085
HP:0001508	Failure to thrive	23114	NFASC	OMIM:618356
HP:0001508	Failure to thrive	1294	COL7A1	ORPHA:89842
HP:0001508	Failure to thrive	6492	SIM1	ORPHA:398079
HP:0001508	Failure to thrive	112939	NACC1	ORPHA:500545
HP:0001508	Failure to thrive	112939	NACC1	OMIM:617393
HP:0001508	Failure to thrive	4952	OCRL	ORPHA:534
HP:0001508	Failure to thrive	4952	OCRL	OMIM:309000
HP:0001508	Failure to thrive	3767	KCNJ11	ORPHA:99885
HP:0001508	Failure to thrive	3767	KCNJ11	ORPHA:99886
HP:0001508	Failure to thrive	6774	STAT3	ORPHA:99885
HP:0001508	Failure to thrive	2645	GCK	ORPHA:99885
HP:0001508	Failure to thrive	6833	ABCC8	ORPHA:99885
HP:0001508	Failure to thrive	6833	ABCC8	ORPHA:99886
HP:0001508	Failure to thrive	3630	INS	ORPHA:99885
HP:0001508	Failure to thrive	346171	ZFP57	ORPHA:99886
HP:0001508	Failure to thrive	57061	HYMAI	ORPHA:99886
HP:0001508	Failure to thrive	5325	PLAGL1	ORPHA:99886
HP:0001508	Failure to thrive	4204	MECP2	ORPHA:778
HP:0001508	Failure to thrive	4204	MECP2	OMIM:300673
HP:0001508	Failure to thrive	3417	IDH1	ORPHA:99646
HP:0001508	Failure to thrive	427	ASAH1	ORPHA:333
HP:0001508	Failure to thrive	427	ASAH1	OMIM:228000
HP:0001508	Failure to thrive	4784	NFIX	OMIM:602535
HP:0001508	Failure to thrive	4784	NFIX	ORPHA:561
HP:0001508	Failure to thrive	3039	HBA1	ORPHA:98791
HP:0001508	Failure to thrive	3040	HBA2	ORPHA:98791
HP:0001508	Failure to thrive	3861	KRT14	ORPHA:89838
HP:0001508	Failure to thrive	3861	KRT14	ORPHA:79396
HP:0001508	Failure to thrive	6777	STAT5B	OMIM:245590
HP:0001508	Failure to thrive	22930	RAB3GAP1	OMIM:600118
HP:0001508	Failure to thrive	537	ATP6AP1	OMIM:300972
HP:0001508	Failure to thrive	4998	ORC1	OMIM:224690
HP:0001508	Failure to thrive	4998	ORC1	ORPHA:2554
HP:0001508	Failure to thrive	7922	SLC39A7	OMIM:619693
HP:0001508	Failure to thrive	6601	SMARCC2	OMIM:618362
HP:0001508	Failure to thrive	7468	NSD2	OMIM:619695
HP:0001508	Failure to thrive	7468	NSD2	OMIM:194190
HP:0001508	Failure to thrive	7468	NSD2	ORPHA:280
HP:0001508	Failure to thrive	6718	AKR1D1	OMIM:235555
HP:0001508	Failure to thrive	6718	AKR1D1	ORPHA:79303
HP:0001508	Failure to thrive	3054	HCFC1	OMIM:309541
HP:0001508	Failure to thrive	201163	FLCN	OMIM:610883
HP:0001508	Failure to thrive	2019	EN1	OMIM:619218
HP:0001508	Failure to thrive	549	AUH	OMIM:250950
HP:0001508	Failure to thrive	549	AUH	ORPHA:67046
HP:0001508	Failure to thrive	1312	COMT	ORPHA:567
HP:0001508	Failure to thrive	221037	JMJD1C	ORPHA:567
HP:0001508	Failure to thrive	2812	GP1BB	ORPHA:567
HP:0001508	Failure to thrive	6239	RREB1	ORPHA:567
HP:0001508	Failure to thrive	6899	TBX1	ORPHA:567
HP:0001508	Failure to thrive	7290	HIRA	ORPHA:567
HP:0001508	Failure to thrive	9632	SEC24C	ORPHA:567
HP:0001508	Failure to thrive	7353	UFD1	ORPHA:567
HP:0001508	Failure to thrive	421	ARVCF	ORPHA:567
HP:0001508	Failure to thrive	3291	HSD11B2	ORPHA:320
HP:0001508	Failure to thrive	3291	HSD11B2	OMIM:218030
HP:0001508	Failure to thrive	4547	MTTP	ORPHA:14
HP:0001508	Failure to thrive	7703	PCGF2	OMIM:618371
HP:0001508	Failure to thrive	6045	RNF2	OMIM:619460
HP:0001508	Failure to thrive	51102	MECR	OMIM:617282
HP:0001508	Failure to thrive	51102	MECR	ORPHA:508093
HP:0001508	Failure to thrive	6557	SLC12A1	OMIM:601678
HP:0001508	Failure to thrive	7809	BSND	OMIM:602522
HP:0001508	Failure to thrive	7809	BSND	ORPHA:89938
HP:0001508	Failure to thrive	63931	MRPS14	OMIM:618378
HP:0001508	Failure to thrive	11342	RNF13	OMIM:618379
HP:0001508	Failure to thrive	11342	RNF13	ORPHA:544503
HP:0001508	Failure to thrive	127833	SYT2	OMIM:619461
HP:0001508	Failure to thrive	8802	SUCLG1	ORPHA:17
HP:0001508	Failure to thrive	8802	SUCLG1	OMIM:245400
HP:0001508	Failure to thrive	146206	CARMIL2	OMIM:618131
HP:0001508	Failure to thrive	3188	HNRNPH2	OMIM:300986
HP:0001508	Failure to thrive	84705	GTPBP3	OMIM:616198
HP:0001508	Failure to thrive	84705	GTPBP3	ORPHA:444013
HP:0001508	Failure to thrive	9971	NR1H4	OMIM:617049
HP:0001508	Failure to thrive	4548	MTR	OMIM:250940
HP:0001508	Failure to thrive	65250	CPLANE1	OMIM:277170
HP:0001508	Failure to thrive	65250	CPLANE1	ORPHA:2754
HP:0001508	Failure to thrive	134218	DNAJC21	OMIM:617052
HP:0001508	Failure to thrive	134218	DNAJC21	ORPHA:811
HP:0001508	Failure to thrive	134218	DNAJC21	OMIM:260400
HP:0001508	Failure to thrive	10526	IPO8	OMIM:619472
HP:0001508	Failure to thrive	54539	NDUFB11	OMIM:300952
HP:0001508	Failure to thrive	54539	NDUFB11	ORPHA:2556
HP:0001508	Failure to thrive	54539	NDUFB11	ORPHA:2609
HP:0001508	Failure to thrive	6711	SPTBN1	OMIM:619475
HP:0001508	Failure to thrive	435	ASL	OMIM:207900
HP:0001508	Failure to thrive	3643	INSR	ORPHA:508
HP:0001508	Failure to thrive	8452	CUL3	OMIM:619239
HP:0001508	Failure to thrive	162417	NAGS	OMIM:237310
HP:0001508	Failure to thrive	162417	NAGS	ORPHA:927
HP:0001508	Failure to thrive	2887	GRB10	ORPHA:96182
HP:0001508	Failure to thrive	10682	EBP	OMIM:300960
HP:0001508	Failure to thrive	10682	EBP	ORPHA:401973
HP:0001508	Failure to thrive	10682	EBP	OMIM:302960
HP:0001508	Failure to thrive	1457	CSNK2A1	OMIM:617062
HP:0001508	Failure to thrive	100147744	RNU7-1	OMIM:619487
HP:0001508	Failure to thrive	374879	ZNF699	OMIM:619488
HP:0001508	Failure to thrive	200931	SLC51A	OMIM:619484
HP:0001508	Failure to thrive	9373	PLAA	ORPHA:521426
HP:0001508	Failure to thrive	9373	PLAA	OMIM:617527
HP:0001508	Failure to thrive	2998	GYS2	ORPHA:2089
HP:0001508	Failure to thrive	57038	RARS2	OMIM:611523
HP:0001508	Failure to thrive	6514	SLC2A2	ORPHA:2088
HP:0001508	Failure to thrive	6514	SLC2A2	OMIM:227810
HP:0001508	Failure to thrive	10551	AGR2	OMIM:620233
HP:0001508	Failure to thrive	3516	RBPJ	ORPHA:974
HP:0001508	Failure to thrive	4851	NOTCH1	ORPHA:974
HP:0001508	Failure to thrive	57514	ARHGAP31	ORPHA:974
HP:0001508	Failure to thrive	57572	DOCK6	ORPHA:974
HP:0001508	Failure to thrive	285203	EOGT	ORPHA:974
HP:0001508	Failure to thrive	54567	DLL4	ORPHA:974
HP:0001508	Failure to thrive	60386	SLC25A19	OMIM:607196
HP:0001508	Failure to thrive	55670	PEX26	ORPHA:772
HP:0001508	Failure to thrive	55670	PEX26	ORPHA:912
HP:0001508	Failure to thrive	5824	PEX19	ORPHA:772
HP:0001508	Failure to thrive	5824	PEX19	ORPHA:912
HP:0001508	Failure to thrive	5828	PEX2	ORPHA:772
HP:0001508	Failure to thrive	5828	PEX2	OMIM:614866
HP:0001508	Failure to thrive	5828	PEX2	ORPHA:912
HP:0001508	Failure to thrive	8504	PEX3	ORPHA:772
HP:0001508	Failure to thrive	8504	PEX3	ORPHA:912
HP:0001508	Failure to thrive	9409	PEX16	ORPHA:772
HP:0001508	Failure to thrive	9409	PEX16	OMIM:614877
HP:0001508	Failure to thrive	9409	PEX16	ORPHA:912
HP:0001508	Failure to thrive	5190	PEX6	ORPHA:772
HP:0001508	Failure to thrive	5190	PEX6	ORPHA:912
HP:0001508	Failure to thrive	8799	PEX11B	ORPHA:772
HP:0001508	Failure to thrive	8799	PEX11B	ORPHA:912
HP:0001508	Failure to thrive	5830	PEX5	ORPHA:772
HP:0001508	Failure to thrive	5830	PEX5	OMIM:214110
HP:0001508	Failure to thrive	5830	PEX5	ORPHA:912
HP:0001508	Failure to thrive	5189	PEX1	ORPHA:772
HP:0001508	Failure to thrive	5189	PEX1	OMIM:214100
HP:0001508	Failure to thrive	5189	PEX1	ORPHA:912
HP:0001508	Failure to thrive	5193	PEX12	ORPHA:772
HP:0001508	Failure to thrive	5193	PEX12	ORPHA:912
HP:0001508	Failure to thrive	5193	PEX12	OMIM:266510
HP:0001508	Failure to thrive	5194	PEX13	ORPHA:772
HP:0001508	Failure to thrive	5194	PEX13	OMIM:614883
HP:0001508	Failure to thrive	5194	PEX13	ORPHA:912
HP:0001508	Failure to thrive	5195	PEX14	ORPHA:772
HP:0001508	Failure to thrive	5195	PEX14	ORPHA:912
HP:0001508	Failure to thrive	5192	PEX10	ORPHA:772
HP:0001508	Failure to thrive	5192	PEX10	ORPHA:912
HP:0001508	Failure to thrive	201595	STT3B	ORPHA:370924
HP:0001508	Failure to thrive	201595	STT3B	OMIM:615597
HP:0001508	Failure to thrive	6748	SSR4	ORPHA:370927
HP:0001508	Failure to thrive	6748	SSR4	OMIM:300934
HP:0001508	Failure to thrive	5317	PKP1	ORPHA:158668
HP:0001508	Failure to thrive	7482	WNT2B	OMIM:618168
HP:0001508	Failure to thrive	63899	NSUN3	OMIM:619012
HP:0001508	Failure to thrive	203190	LGI3	OMIM:620007
HP:0001508	Failure to thrive	284058	KANSL1	OMIM:610443
HP:0001508	Failure to thrive	875	CBS	OMIM:236200
HP:0001508	Failure to thrive	84081	NSRP1	OMIM:620001
HP:0001508	Failure to thrive	5468	PPARG	ORPHA:528
HP:0001508	Failure to thrive	10555	AGPAT2	ORPHA:528
HP:0001508	Failure to thrive	284119	CAVIN1	ORPHA:528
HP:0001508	Failure to thrive	284119	CAVIN1	OMIM:613327
HP:0001508	Failure to thrive	26580	BSCL2	ORPHA:528
HP:0001508	Failure to thrive	2353	FOS	ORPHA:528
HP:0001508	Failure to thrive	10079	ATP9A	OMIM:620242
HP:0001508	Failure to thrive	2801	GOLGA2	OMIM:620240
HP:0001508	Failure to thrive	50617	ATP6V0A4	OMIM:602722
HP:0001508	Failure to thrive	116150	NUS1	OMIM:617082
HP:0001508	Failure to thrive	116150	NUS1	ORPHA:442835
HP:0001508	Failure to thrive	2629	GBA1	OMIM:230900
HP:0001508	Failure to thrive	118429	ANTXR2	OMIM:228600
HP:0001508	Failure to thrive	118429	ANTXR2	ORPHA:2176
HP:0001508	Failure to thrive	1373	CPS1	OMIM:237300
HP:0001508	Failure to thrive	5696	PSMB8	OMIM:256040
HP:0001508	Failure to thrive	25886	POC1A	OMIM:614813
HP:0001508	Failure to thrive	128	ADH5	OMIM:619151
HP:0001508	Failure to thrive	64374	SIL1	OMIM:248800
HP:0001508	Failure to thrive	6399	TRAPPC2	ORPHA:93284
HP:0001508	Failure to thrive	6535	SLC6A8	OMIM:300352
HP:0001508	Failure to thrive	6309	SC5D	ORPHA:46059
HP:0001508	Failure to thrive	6775	STAT4	ORPHA:85410
HP:0001508	Failure to thrive	3560	IL2RB	ORPHA:85410
HP:0001508	Failure to thrive	3560	IL2RB	OMIM:618495
HP:0001508	Failure to thrive	79722	ANKRD55	ORPHA:85410
HP:0001508	Failure to thrive	26191	PTPN22	ORPHA:85410
HP:0001508	Failure to thrive	919	CD247	ORPHA:85410
HP:0001508	Failure to thrive	5771	PTPN2	ORPHA:85410
HP:0001508	Failure to thrive	5393	EXOSC9	OMIM:618065
HP:0001508	Failure to thrive	5393	EXOSC9	ORPHA:2254
HP:0001508	Failure to thrive	10312	TCIRG1	OMIM:259700
HP:0001508	Failure to thrive	5009	OTC	OMIM:311250
HP:0001508	Failure to thrive	25821	MTO1	OMIM:614702
HP:0001508	Failure to thrive	987	LRBA	OMIM:614700
HP:0001508	Failure to thrive	51343	FZR1	OMIM:620145
HP:0001508	Failure to thrive	51343	FZR1	ORPHA:442835
HP:0001508	Failure to thrive	126792	B3GALT6	OMIM:609465
HP:0001508	Failure to thrive	126792	B3GALT6	ORPHA:93359
HP:0001508	Failure to thrive	80232	WDR26	ORPHA:513456
HP:0001508	Failure to thrive	51506	UFC1	OMIM:618076
HP:0001508	Failure to thrive	63916	ELMO2	ORPHA:3019
HP:0001508	Failure to thrive	79947	DHDDS	OMIM:613861
HP:0001508	Failure to thrive	79947	DHDDS	ORPHA:442835
HP:0001508	Failure to thrive	841	CASP8	OMIM:607271
HP:0001508	Failure to thrive	55788	LMBRD1	OMIM:277380
HP:0001508	Failure to thrive	55788	LMBRD1	ORPHA:79284
HP:0001508	Failure to thrive	80055	PGAP1	OMIM:615802
HP:0001508	Failure to thrive	6662	SOX9	OMIM:114290
HP:0001508	Failure to thrive	55780	ERMARD	ORPHA:75857
HP:0001508	Failure to thrive	429	ASCL1	ORPHA:99803
HP:0001508	Failure to thrive	8929	PHOX2B	ORPHA:99803
HP:0001508	Failure to thrive	3242	HPD	OMIM:140350
HP:0001508	Failure to thrive	3242	HPD	ORPHA:2118
HP:0001508	Failure to thrive	771	CA12	OMIM:143860
HP:0001508	Failure to thrive	79631	EFL1	ORPHA:811
HP:0001508	Failure to thrive	79631	EFL1	OMIM:617941
HP:0001508	Failure to thrive	51119	SBDS	ORPHA:811
HP:0001508	Failure to thrive	51119	SBDS	OMIM:260400
HP:0001508	Failure to thrive	6729	SRP54	ORPHA:811
HP:0001508	Failure to thrive	6729	SRP54	OMIM:260400
HP:0001508	Failure to thrive	6439	SFTPB	OMIM:265120
HP:0001508	Failure to thrive	87178	PNPT1	ORPHA:319514
HP:0001508	Failure to thrive	1738	DLD	ORPHA:2394
HP:0001508	Failure to thrive	4001	LMNB1	OMIM:619179
HP:0001508	Failure to thrive	84876	ORAI1	OMIM:612782
HP:0001508	Failure to thrive	3988	LIPA	OMIM:278000
HP:0001508	Failure to thrive	92579	G6PC3	OMIM:612541
HP:0001508	Failure to thrive	55858	TMEM165	OMIM:614727
HP:0001508	Failure to thrive	9839	ZEB2	ORPHA:261552
HP:0001508	Failure to thrive	9839	ZEB2	ORPHA:261537
HP:0001508	Failure to thrive	50674	NEUROG3	OMIM:610370
HP:0001508	Failure to thrive	6885	MAP3K7	OMIM:157800
HP:0001508	Failure to thrive	7170	TPM3	OMIM:255310
HP:0001508	Failure to thrive	7170	TPM3	ORPHA:2020
HP:0001508	Failure to thrive	1591	CYP24A1	OMIM:143880
HP:0001508	Failure to thrive	23545	ATP6V0A2	OMIM:278250
HP:0001508	Failure to thrive	23545	ATP6V0A2	OMIM:219200
HP:0001508	Failure to thrive	23545	ATP6V0A2	ORPHA:2834
HP:0001508	Failure to thrive	23545	ATP6V0A2	ORPHA:357074
HP:0001508	Failure to thrive	84300	UQCC2	OMIM:615824
HP:0001508	Failure to thrive	113235	SLC46A1	OMIM:229050
HP:0001508	Failure to thrive	113235	SLC46A1	ORPHA:90045
HP:0001508	Failure to thrive	63894	VIPAS39	OMIM:613404
HP:0001508	Failure to thrive	79053	ALG8	OMIM:608104
HP:0001508	Failure to thrive	79053	ALG8	ORPHA:79325
HP:0001508	Failure to thrive	53834	FGFRL1	OMIM:194190
HP:0001508	Failure to thrive	1487	CTBP1	OMIM:194190
HP:0001508	Failure to thrive	1487	CTBP1	ORPHA:280
HP:0001508	Failure to thrive	3954	LETM1	OMIM:194190
HP:0001508	Failure to thrive	3954	LETM1	ORPHA:280
HP:0001508	Failure to thrive	10815	CPLX1	OMIM:194190
HP:0001508	Failure to thrive	10815	CPLX1	ORPHA:280
HP:0001508	Failure to thrive	84947	SERAC1	OMIM:614739
HP:0001508	Failure to thrive	1798	DPAGT1	ORPHA:86309
HP:0001508	Failure to thrive	6125	RPL5	OMIM:612561
HP:0001508	Failure to thrive	4519	MT-CYB	ORPHA:137675
HP:0001508	Failure to thrive	773	CACNA1A	ORPHA:2131
HP:0001508	Failure to thrive	773	CACNA1A	ORPHA:442835
HP:0001508	Failure to thrive	6507	SLC1A3	ORPHA:2131
HP:0001508	Failure to thrive	477	ATP1A2	ORPHA:2131
HP:0001508	Failure to thrive	477	ATP1A2	ORPHA:442835
HP:0001508	Failure to thrive	478	ATP1A3	ORPHA:2131
HP:0001508	Failure to thrive	478	ATP1A3	ORPHA:442835
HP:0001508	Failure to thrive	90624	LYRM7	OMIM:615838
HP:0001508	Failure to thrive	1650	DDOST	OMIM:614507
HP:0001508	Failure to thrive	1650	DDOST	ORPHA:300536
HP:0001508	Failure to thrive	10056	FARSB	OMIM:613658
HP:0001508	Failure to thrive	128674	PROKR2	ORPHA:95496
HP:0001508	Failure to thrive	89884	LHX4	ORPHA:95496
HP:0001508	Failure to thrive	55717	WDR11	ORPHA:95496
HP:0001508	Failure to thrive	6091	ROBO1	ORPHA:95496
HP:0001508	Failure to thrive	8820	HESX1	ORPHA:95496
HP:0001508	Failure to thrive	23432	GPR161	ORPHA:95496
HP:0001508	Failure to thrive	11128	POLR3A	OMIM:264090
HP:0001508	Failure to thrive	11128	POLR3A	ORPHA:3455
HP:0001508	Failure to thrive	79759	ZNF668	OMIM:620194
HP:0001508	Failure to thrive	1303	COL12A1	ORPHA:536516
HP:0001508	Failure to thrive	182	JAG1	OMIM:118450
HP:0001508	Failure to thrive	9440	MED17	OMIM:613668
HP:0001508	Failure to thrive	917	CD3G	OMIM:615607
HP:0001508	Failure to thrive	51128	SAR1B	ORPHA:71
HP:0001508	Failure to thrive	51128	SAR1B	OMIM:246700
HP:0001508	Failure to thrive	55343	SLC35C1	ORPHA:99843
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:98754
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:177904
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:177901
HP:0001508	Failure to thrive	4692	NDN	ORPHA:98754
HP:0001508	Failure to thrive	4692	NDN	ORPHA:177904
HP:0001508	Failure to thrive	4692	NDN	ORPHA:177901
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:98754
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:177904
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:177901
HP:0001508	Failure to thrive	695	BTK	ORPHA:47
HP:0001508	Failure to thrive	8813	DPM1	OMIM:608799
HP:0001508	Failure to thrive	8813	DPM1	ORPHA:79322
HP:0001508	Failure to thrive	8573	CASK	ORPHA:163937
HP:0001508	Failure to thrive	8573	CASK	ORPHA:1934
HP:0001508	Failure to thrive	8242	KDM5C	OMIM:300534
HP:0001508	Failure to thrive	9652	SKIC3	OMIM:222470
HP:0001508	Failure to thrive	55275	VPS53	OMIM:615851
HP:0001508	Failure to thrive	445	ASS1	OMIM:215700
HP:0001508	Failure to thrive	915	CD3D	OMIM:615617
HP:0001508	Failure to thrive	6314	ATXN7	ORPHA:94147
HP:0001508	Failure to thrive	171023	ASXL1	OMIM:605039
HP:0001508	Failure to thrive	8694	DGAT1	OMIM:615863
HP:0001508	Failure to thrive	4000	LMNA	OMIM:613205
HP:0001508	Failure to thrive	4000	LMNA	ORPHA:79474
HP:0001508	Failure to thrive	1288	COL4A6	ORPHA:1018
HP:0001508	Failure to thrive	1287	COL4A5	ORPHA:1018
HP:0001508	Failure to thrive	9663	LPIN2	OMIM:609628
HP:0001508	Failure to thrive	9663	LPIN2	ORPHA:77297
HP:0001508	Failure to thrive	91949	COG7	OMIM:608779
HP:0001508	Failure to thrive	91949	COG7	ORPHA:79333
HP:0001508	Failure to thrive	2245	FGD1	OMIM:305400
HP:0001508	Failure to thrive	6569	SLC34A1	OMIM:616963
HP:0001508	Failure to thrive	132	ADK	OMIM:614300
HP:0001508	Failure to thrive	23394	ADNP	OMIM:615873
HP:0001508	Failure to thrive	4072	EPCAM	OMIM:613217
HP:0001508	Failure to thrive	4072	EPCAM	ORPHA:92050
HP:0001508	Failure to thrive	6948	TCN2	OMIM:275350
HP:0001508	Failure to thrive	79796	ALG9	OMIM:608776
HP:0001508	Failure to thrive	3981	LIG4	OMIM:606593
HP:0001508	Failure to thrive	3981	LIG4	ORPHA:39041
HP:0001508	Failure to thrive	1806	DPYD	OMIM:274270
HP:0001508	Failure to thrive	54931	TRMT10C	OMIM:616974
HP:0001508	Failure to thrive	4792	NFKBIA	OMIM:612132
HP:0001508	Failure to thrive	2782	GNB1	OMIM:616973
HP:0001508	Failure to thrive	2782	GNB1	ORPHA:488613
HP:0001508	Failure to thrive	131118	DNAJC19	OMIM:610198
HP:0001508	Failure to thrive	8085	KMT2D	ORPHA:2322
HP:0001508	Failure to thrive	7403	KDM6A	ORPHA:2322
HP:0001508	Failure to thrive	79644	SRD5A3	OMIM:612379
HP:0001508	Failure to thrive	117581	TWIST2	ORPHA:1231
HP:0001508	Failure to thrive	50	ACO2	OMIM:614559
HP:0001508	Failure to thrive	3097	HIVEP2	OMIM:616977
HP:0001508	Failure to thrive	7547	ZIC3	OMIM:306955
HP:0001508	Failure to thrive	7037	TFRC	OMIM:616740
HP:0001508	Failure to thrive	4358	MPV17	OMIM:256810
HP:0001508	Failure to thrive	10616	RBCK1	OMIM:615895
HP:0001508	Failure to thrive	130589	GALM	ORPHA:570422
HP:0001508	Failure to thrive	6868	ADAM17	OMIM:614328
HP:0001508	Failure to thrive	2917	GRM7	OMIM:618922
HP:0001508	Failure to thrive	2917	GRM7	ORPHA:1934
HP:0001508	Failure to thrive	81620	CDT1	ORPHA:2554
HP:0001508	Failure to thrive	81620	CDT1	OMIM:613804
HP:0001508	Failure to thrive	5000	ORC4	ORPHA:2554
HP:0001508	Failure to thrive	5000	ORC4	OMIM:613800
HP:0001508	Failure to thrive	23594	ORC6	ORPHA:2554
HP:0001508	Failure to thrive	23594	ORC6	OMIM:613803
HP:0001508	Failure to thrive	8318	CDC45	ORPHA:2554
HP:0001508	Failure to thrive	990	CDC6	ORPHA:2554
HP:0001508	Failure to thrive	990	CDC6	OMIM:613805
HP:0001508	Failure to thrive	51053	GMNN	ORPHA:2554
HP:0001508	Failure to thrive	51053	GMNN	OMIM:616835
HP:0001508	Failure to thrive	84693	MCEE	OMIM:251120
HP:0001508	Failure to thrive	1349	COX7B	ORPHA:2556
HP:0001508	Failure to thrive	3052	HCCS	ORPHA:2556
HP:0001508	Failure to thrive	4982	TNFRSF11B	OMIM:239000
HP:0001508	Failure to thrive	7286	TUFT1	OMIM:607655
HP:0001508	Failure to thrive	25	ABL1	OMIM:617602
HP:0001508	Failure to thrive	57511	COG6	OMIM:614576
HP:0001508	Failure to thrive	26227	PHGDH	ORPHA:79351
HP:0001508	Failure to thrive	3868	KRT16	ORPHA:2309
HP:0001508	Failure to thrive	3872	KRT17	ORPHA:2309
HP:0001508	Failure to thrive	3853	KRT6A	ORPHA:2309
HP:0001508	Failure to thrive	3854	KRT6B	ORPHA:2309
HP:0001508	Failure to thrive	326625	MMAB	OMIM:251110
HP:0001508	Failure to thrive	760	CA2	ORPHA:2785
HP:0001508	Failure to thrive	60	ACTB	OMIM:243310
HP:0001508	Failure to thrive	60	ACTB	ORPHA:2995
HP:0001508	Failure to thrive	23476	BRD4	ORPHA:199
HP:0001508	Failure to thrive	9126	SMC3	ORPHA:199
HP:0001508	Failure to thrive	8243	SMC1A	ORPHA:199
HP:0001508	Failure to thrive	8243	SMC1A	ORPHA:220386
HP:0001508	Failure to thrive	25836	NIPBL	ORPHA:199
HP:0001508	Failure to thrive	55869	HDAC8	ORPHA:199
HP:0001508	Failure to thrive	5885	RAD21	ORPHA:199
HP:0001508	Failure to thrive	10664	CTCF	ORPHA:363611
HP:0001508	Failure to thrive	55180	LINS1	OMIM:614340
HP:0001508	Failure to thrive	11222	MRPL3	OMIM:614582
HP:0001508	Failure to thrive	51520	LARS1	OMIM:615438
HP:0001508	Failure to thrive	80152	CENPT	OMIM:618702
HP:0001508	Failure to thrive	55617	TASP1	OMIM:618950
HP:0001508	Failure to thrive	6182	MRPL12	OMIM:618951
HP:0001508	Failure to thrive	60528	ELAC2	OMIM:615440
HP:0001508	Failure to thrive	57688	ZSWIM6	OMIM:617865
HP:0001508	Failure to thrive	2893	GRIA4	OMIM:617864
HP:0001508	Failure to thrive	28957	MRPS28	OMIM:618958
HP:0001508	Failure to thrive	50615	IL21R	OMIM:615207
HP:0001508	Failure to thrive	57570	TRMT5	OMIM:616539
HP:0001508	Failure to thrive	3033	HADH	ORPHA:71212
HP:0001508	Failure to thrive	617	BCS1L	OMIM:124000
HP:0001508	Failure to thrive	139285	AMER1	OMIM:300373
HP:0001508	Failure to thrive	6389	SDHA	ORPHA:255241
HP:0001508	Failure to thrive	80704	SLC19A3	ORPHA:255241
HP:0001508	Failure to thrive	91942	NDUFAF2	ORPHA:255241
HP:0001508	Failure to thrive	91942	NDUFAF2	ORPHA:2609
HP:0001508	Failure to thrive	6834	SURF1	ORPHA:255241
HP:0001508	Failure to thrive	6834	SURF1	OMIM:220110
HP:0001508	Failure to thrive	6834	SURF1	ORPHA:70474
HP:0001508	Failure to thrive	4723	NDUFV1	ORPHA:255241
HP:0001508	Failure to thrive	4723	NDUFV1	ORPHA:2609
HP:0001508	Failure to thrive	55572	FOXRED1	ORPHA:255241
HP:0001508	Failure to thrive	55572	FOXRED1	ORPHA:2609
HP:0001508	Failure to thrive	4729	NDUFV2	ORPHA:255241
HP:0001508	Failure to thrive	4729	NDUFV2	ORPHA:2609
HP:0001508	Failure to thrive	4729	NDUFV2	OMIM:618229
HP:0001508	Failure to thrive	55967	NDUFA12	ORPHA:255241
HP:0001508	Failure to thrive	51204	TACO1	ORPHA:255241
HP:0001508	Failure to thrive	4720	NDUFS2	ORPHA:255241
HP:0001508	Failure to thrive	4720	NDUFS2	ORPHA:2609
HP:0001508	Failure to thrive	4720	NDUFS2	OMIM:618228
HP:0001508	Failure to thrive	4720	NDUFS2	ORPHA:70474
HP:0001508	Failure to thrive	4724	NDUFS4	ORPHA:255241
HP:0001508	Failure to thrive	4724	NDUFS4	OMIM:252010
HP:0001508	Failure to thrive	4724	NDUFS4	ORPHA:2609
HP:0001508	Failure to thrive	4728	NDUFS8	ORPHA:255241
HP:0001508	Failure to thrive	4728	NDUFS8	ORPHA:2609
HP:0001508	Failure to thrive	137682	NDUFAF6	ORPHA:255241
HP:0001508	Failure to thrive	4722	NDUFS3	ORPHA:255241
HP:0001508	Failure to thrive	4722	NDUFS3	ORPHA:2609
HP:0001508	Failure to thrive	79133	NDUFAF5	ORPHA:255241
HP:0001508	Failure to thrive	79133	NDUFAF5	ORPHA:2609
HP:0001508	Failure to thrive	79133	NDUFAF5	OMIM:618238
HP:0001508	Failure to thrive	5160	PDHA1	ORPHA:255241
HP:0001508	Failure to thrive	100131801	PET100	ORPHA:255241
HP:0001508	Failure to thrive	100131801	PET100	OMIM:619055
HP:0001508	Failure to thrive	1355	COX15	ORPHA:255241
HP:0001508	Failure to thrive	1892	ECHS1	ORPHA:255241
HP:0001508	Failure to thrive	123263	MTFMT	ORPHA:255241
HP:0001508	Failure to thrive	51079	NDUFA13	ORPHA:255241
HP:0001508	Failure to thrive	51079	NDUFA13	OMIM:618249
HP:0001508	Failure to thrive	374291	NDUFS7	ORPHA:255241
HP:0001508	Failure to thrive	374291	NDUFS7	ORPHA:2609
HP:0001508	Failure to thrive	4705	NDUFA10	ORPHA:255241
HP:0001508	Failure to thrive	51601	LIPT1	ORPHA:255241
HP:0001508	Failure to thrive	4719	NDUFS1	ORPHA:255241
HP:0001508	Failure to thrive	4719	NDUFS1	ORPHA:2609
HP:0001508	Failure to thrive	4719	NDUFS1	OMIM:618226
HP:0001508	Failure to thrive	4695	NDUFA2	ORPHA:255241
HP:0001508	Failure to thrive	4695	NDUFA2	OMIM:618235
HP:0001508	Failure to thrive	4704	NDUFA9	ORPHA:255241
HP:0001508	Failure to thrive	54802	TRIT1	OMIM:617873
HP:0001508	Failure to thrive	51081	MRPS7	OMIM:617872
HP:0001508	Failure to thrive	1537	CYC1	OMIM:615453
HP:0001508	Failure to thrive	26503	SLC17A5	OMIM:269920
HP:0001508	Failure to thrive	133686	NADK2	ORPHA:431361
HP:0001508	Failure to thrive	133686	NADK2	OMIM:616034
HP:0001508	Failure to thrive	3458	IFNG	OMIM:618963
HP:0001508	Failure to thrive	5449	POU1F1	OMIM:613038
HP:0001508	Failure to thrive	4621	MYH3	ORPHA:2990
HP:0001508	Failure to thrive	4621	MYH3	OMIM:193700
HP:0001508	Failure to thrive	4621	MYH3	ORPHA:2053
HP:0001508	Failure to thrive	1146	CHRNG	ORPHA:2990
HP:0001508	Failure to thrive	26123	TCTN3	ORPHA:2753
HP:0001508	Failure to thrive	26123	TCTN3	ORPHA:2754
HP:0001508	Failure to thrive	71	ACTG1	ORPHA:2995
HP:0001508	Failure to thrive	10210	TOPORS	ORPHA:2754
HP:0001508	Failure to thrive	9851	KIAA0753	ORPHA:2754
HP:0001508	Failure to thrive	5147	PDE6D	ORPHA:2754
HP:0001508	Failure to thrive	8481	OFD1	ORPHA:2754
HP:0001508	Failure to thrive	317662	FAM149B1	ORPHA:2754
HP:0001508	Failure to thrive	374654	KIF7	ORPHA:2754
HP:0001508	Failure to thrive	374654	KIF7	OMIM:200990
HP:0001508	Failure to thrive	672	BRCA1	OMIM:617883
HP:0001508	Failure to thrive	4153	MBL2	OMIM:614372
HP:0001508	Failure to thrive	523	ATP6V1A	OMIM:617403
HP:0001508	Failure to thrive	523	ATP6V1A	ORPHA:442835
HP:0001508	Failure to thrive	523	ATP6V1A	ORPHA:357074
HP:0001508	Failure to thrive	242	ALOX12B	ORPHA:79394
HP:0001508	Failure to thrive	204219	CERS3	ORPHA:79394
HP:0001508	Failure to thrive	285848	PNPLA1	ORPHA:79394
HP:0001508	Failure to thrive	59344	ALOXE3	ORPHA:79394
HP:0001508	Failure to thrive	348938	NIPAL4	ORPHA:79394
HP:0001508	Failure to thrive	7051	TGM1	ORPHA:79394
HP:0001508	Failure to thrive	6929	TCF3	OMIM:619824
HP:0001508	Failure to thrive	6929	TCF3	ORPHA:33110
HP:0001508	Failure to thrive	3852	KRT5	ORPHA:79396
HP:0001508	Failure to thrive	2746	GLUD1	OMIM:606762
HP:0001508	Failure to thrive	100	ADA	ORPHA:277
HP:0001508	Failure to thrive	100	ADA	ORPHA:39041
HP:0001508	Failure to thrive	100	ADA	OMIM:102700
HP:0001508	Failure to thrive	3561	IL2RG	ORPHA:276
HP:0001508	Failure to thrive	3561	IL2RG	OMIM:300400
HP:0001508	Failure to thrive	3561	IL2RG	ORPHA:39041
HP:0001508	Failure to thrive	8036	SHOC2	OMIM:607721
HP:0001508	Failure to thrive	64421	DCLRE1C	ORPHA:275
HP:0001508	Failure to thrive	64421	DCLRE1C	OMIM:603554
HP:0001508	Failure to thrive	64421	DCLRE1C	OMIM:602450
HP:0001508	Failure to thrive	64421	DCLRE1C	ORPHA:39041
HP:0001508	Failure to thrive	25915	NDUFAF3	ORPHA:2609
HP:0001508	Failure to thrive	25915	NDUFAF3	ORPHA:70474
HP:0001508	Failure to thrive	51103	NDUFAF1	ORPHA:2609
HP:0001508	Failure to thrive	51103	NDUFAF1	OMIM:618234
HP:0001508	Failure to thrive	51300	TIMMDC1	ORPHA:2609
HP:0001508	Failure to thrive	51300	TIMMDC1	OMIM:618251
HP:0001508	Failure to thrive	4716	NDUFB10	ORPHA:2609
HP:0001508	Failure to thrive	284184	NDUFAF8	ORPHA:2609
HP:0001508	Failure to thrive	55863	TMEM126B	ORPHA:2609
HP:0001508	Failure to thrive	55863	TMEM126B	OMIM:618250
HP:0001508	Failure to thrive	4537	MT-ND3	ORPHA:2609
HP:0001508	Failure to thrive	4537	MT-ND3	ORPHA:255210
HP:0001508	Failure to thrive	4694	NDUFA1	ORPHA:2609
HP:0001508	Failure to thrive	4726	NDUFS6	ORPHA:2609
HP:0001508	Failure to thrive	126328	NDUFA11	ORPHA:2609
HP:0001508	Failure to thrive	4709	NDUFB3	ORPHA:2609
HP:0001508	Failure to thrive	4709	NDUFB3	OMIM:618246
HP:0001508	Failure to thrive	80224	NUBPL	ORPHA:2609
HP:0001508	Failure to thrive	29078	NDUFAF4	ORPHA:2609
HP:0001508	Failure to thrive	29078	NDUFAF4	OMIM:618237
HP:0001508	Failure to thrive	4700	NDUFA6	ORPHA:2609
HP:0001508	Failure to thrive	4536	MT-ND2	ORPHA:2609
HP:0001508	Failure to thrive	4536	MT-ND2	ORPHA:255210
HP:0001508	Failure to thrive	4715	NDUFB9	ORPHA:2609
HP:0001508	Failure to thrive	3551	IKBKB	OMIM:615592
HP:0001508	Failure to thrive	10617	STAMBP	OMIM:614261
HP:0001508	Failure to thrive	8367	H4C5	OMIM:619950
HP:0001508	Failure to thrive	229	ALDOB	OMIM:229600
HP:0001508	Failure to thrive	151648	SGO1	OMIM:616201
HP:0001508	Failure to thrive	57128	LYRM4	OMIM:615595
HP:0001508	Failure to thrive	197322	ACSF3	OMIM:614265
HP:0001508	Failure to thrive	197322	ACSF3	ORPHA:289504
HP:0001508	Failure to thrive	3703	STT3A	OMIM:615596
HP:0001508	Failure to thrive	3703	STT3A	ORPHA:370921
HP:0001508	Failure to thrive	6016	RIT1	OMIM:615355
HP:0001508	Failure to thrive	10054	UBA2	OMIM:619959
HP:0001508	Failure to thrive	4860	PNP	OMIM:613179
HP:0001508	Failure to thrive	2720	GLB1	OMIM:230600
HP:0001508	Failure to thrive	80270	HSD3B7	ORPHA:79301
HP:0001508	Failure to thrive	80270	HSD3B7	OMIM:607765
HP:0001508	Failure to thrive	2072	ERCC4	ORPHA:90321
HP:0001508	Failure to thrive	2072	ERCC4	OMIM:610965
HP:0001508	Failure to thrive	2072	ERCC4	ORPHA:910
HP:0001508	Failure to thrive	79783	SUGCT	ORPHA:35706
HP:0001508	Failure to thrive	79783	SUGCT	OMIM:231690
HP:0001508	Failure to thrive	79848	CSPP1	ORPHA:397715
HP:0001508	Failure to thrive	9786	KIAA0586	ORPHA:397715
HP:0001508	Failure to thrive	4577	MT-TV	ORPHA:255210
HP:0001508	Failure to thrive	4508	MT-ATP6	ORPHA:255210
HP:0001508	Failure to thrive	4508	MT-ATP6	ORPHA:225154
HP:0001508	Failure to thrive	4566	MT-TK	ORPHA:255210
HP:0001508	Failure to thrive	3074	HEXB	ORPHA:309162
HP:0001508	Failure to thrive	249	ALPL	OMIM:241500
HP:0001508	Failure to thrive	3021	H3-3B	OMIM:619721
HP:0001508	Failure to thrive	1528	CYB5A	ORPHA:90796
HP:0001508	Failure to thrive	1586	CYP17A1	ORPHA:90796
HP:0001508	Failure to thrive	1586	CYP17A1	ORPHA:90793
HP:0001508	Failure to thrive	51111	KMT5B	OMIM:617788
HP:0001508	Failure to thrive	790	CAD	OMIM:616457
HP:0001508	Failure to thrive	6523	SLC5A1	ORPHA:35710
HP:0001508	Failure to thrive	6523	SLC5A1	OMIM:606824
HP:0001508	Failure to thrive	3284	HSD3B2	ORPHA:90791
HP:0001508	Failure to thrive	6440	SFTPC	OMIM:610913
HP:0001508	Failure to thrive	23474	ETHE1	ORPHA:51188
HP:0001508	Failure to thrive	23474	ETHE1	OMIM:602473
HP:0001508	Failure to thrive	137492	VPS37A	ORPHA:319199
HP:0001508	Failure to thrive	91869	RFT1	ORPHA:244310
HP:0001508	Failure to thrive	91869	RFT1	OMIM:612015
HP:0001508	Failure to thrive	4853	NOTCH2	OMIM:102500
HP:0001508	Failure to thrive	4853	NOTCH2	ORPHA:955
HP:0001508	Failure to thrive	8560	DEGS1	OMIM:618404
HP:0001508	Failure to thrive	21	ABCA3	OMIM:610921
HP:0001508	Failure to thrive	5566	PRKACA	ORPHA:289
HP:0001508	Failure to thrive	5567	PRKACB	ORPHA:289
HP:0001508	Failure to thrive	2735	GLI1	ORPHA:289
HP:0001508	Failure to thrive	2121	EVC	ORPHA:289
HP:0001508	Failure to thrive	51626	DYNC2LI1	ORPHA:289
HP:0001508	Failure to thrive	132884	EVC2	ORPHA:289
HP:0001508	Failure to thrive	652	BMP4	OMIM:607932
HP:0001508	Failure to thrive	54872	PIGG	ORPHA:280
HP:0001508	Failure to thrive	7469	NELFA	ORPHA:280
HP:0001508	Failure to thrive	22872	SEC31A	OMIM:618651
HP:0001508	Failure to thrive	54968	TMEM70	OMIM:614052
HP:0001508	Failure to thrive	4297	KMT2A	ORPHA:319182
HP:0001508	Failure to thrive	4297	KMT2A	OMIM:605130
HP:0001508	Failure to thrive	28755	TRAC	OMIM:615387
HP:0001508	Failure to thrive	2783	GNB2	OMIM:619503
HP:0001508	Failure to thrive	3737	KCNA2	ORPHA:442835
HP:0001508	Failure to thrive	1759	DNM1	ORPHA:442835
HP:0001508	Failure to thrive	1759	DNM1	OMIM:620352
HP:0001508	Failure to thrive	8120	AP3B2	ORPHA:442835
HP:0001508	Failure to thrive	10991	SLC38A3	ORPHA:442835
HP:0001508	Failure to thrive	22906	TRAK1	ORPHA:442835
HP:0001508	Failure to thrive	22906	TRAK1	OMIM:618201
HP:0001508	Failure to thrive	2566	GABRG2	ORPHA:442835
HP:0001508	Failure to thrive	1917	EEF1A2	ORPHA:442835
HP:0001508	Failure to thrive	2561	GABRB2	ORPHA:442835
HP:0001508	Failure to thrive	8831	SYNGAP1	ORPHA:442835
HP:0001508	Failure to thrive	7532	YWHAG	ORPHA:442835
HP:0001508	Failure to thrive	79876	UBA5	ORPHA:442835
HP:0001508	Failure to thrive	79876	UBA5	OMIM:617132
HP:0001508	Failure to thrive	6328	SCN3A	ORPHA:442835
HP:0001508	Failure to thrive	6328	SCN3A	OMIM:617938
HP:0001508	Failure to thrive	2558	GABRA5	ORPHA:442835
HP:0001508	Failure to thrive	781	CACNA2D1	ORPHA:442835
HP:0001508	Failure to thrive	2906	GRIN2D	ORPHA:442835
HP:0001508	Failure to thrive	2906	GRIN2D	OMIM:617162
HP:0001508	Failure to thrive	10659	CELF2	ORPHA:442835
HP:0001508	Failure to thrive	774	CACNA1B	ORPHA:442835
HP:0001508	Failure to thrive	1213	CLTC	ORPHA:442835
HP:0001508	Failure to thrive	51741	WWOX	ORPHA:442835
HP:0001508	Failure to thrive	23334	SZT2	ORPHA:442835
HP:0001508	Failure to thrive	51412	ACTL6B	ORPHA:442835
HP:0001508	Failure to thrive	348980	HCN1	ORPHA:442835
HP:0001508	Failure to thrive	6506	SLC1A2	ORPHA:442835
HP:0001508	Failure to thrive	8867	SYNJ1	ORPHA:442835
HP:0001508	Failure to thrive	2258	FGF13	ORPHA:442835
HP:0001508	Failure to thrive	3745	KCNB1	ORPHA:442835
HP:0001508	Failure to thrive	284111	SLC13A5	ORPHA:442835
HP:0001508	Failure to thrive	25977	NECAP1	ORPHA:442835
HP:0001508	Failure to thrive	6334	SCN8A	ORPHA:442835
HP:0001508	Failure to thrive	22866	CNKSR2	ORPHA:442835
HP:0001508	Failure to thrive	9568	GABBR2	ORPHA:442835
HP:0001508	Failure to thrive	2555	GABRA2	ORPHA:442835
HP:0001508	Failure to thrive	55152	DALRD3	ORPHA:442835
HP:0001508	Failure to thrive	26999	CYFIP2	ORPHA:442835
HP:0001508	Failure to thrive	4915	NTRK2	ORPHA:442835
HP:0001508	Failure to thrive	25973	PARS2	ORPHA:442835
HP:0001508	Failure to thrive	23097	CDK19	ORPHA:442835
HP:0001508	Failure to thrive	64801	ARV1	ORPHA:442835
HP:0001508	Failure to thrive	2257	FGF12	ORPHA:442835
HP:0001508	Failure to thrive	5530	PPP3CA	ORPHA:442835
HP:0001508	Failure to thrive	7092	TLL1	ORPHA:99106
HP:0001508	Failure to thrive	8241	RBM10	OMIM:311900
HP:0001508	Failure to thrive	8241	RBM10	ORPHA:2886
HP:0001508	Failure to thrive	1789	DNMT3B	OMIM:242860
HP:0001508	Failure to thrive	10804	GJB6	ORPHA:477
HP:0001508	Failure to thrive	2706	GJB2	ORPHA:477
HP:0001508	Failure to thrive	9056	SLC7A7	ORPHA:470
HP:0001508	Failure to thrive	9056	SLC7A7	OMIM:222700
HP:0001508	Failure to thrive	1182	CLCN3	OMIM:619512
HP:0001508	Failure to thrive	142680	SLC34A3	OMIM:241530
HP:0001508	Failure to thrive	54914	FOCAD	OMIM:619991
HP:0001508	Failure to thrive	9453	GGPS1	OMIM:619518
HP:0001508	Failure to thrive	2592	GALT	OMIM:230400
HP:0001508	Failure to thrive	8021	NUP214	OMIM:618426
HP:0001508	Failure to thrive	4191	MDH2	OMIM:617339
HP:0001508	Failure to thrive	166785	MMAA	OMIM:251100
HP:0001508	Failure to thrive	5551	PRF1	OMIM:603553
HP:0001508	Failure to thrive	554	AVPR2	ORPHA:223
HP:0001508	Failure to thrive	554	AVPR2	OMIM:304800
HP:0001508	Failure to thrive	359	AQP2	ORPHA:223
HP:0001508	Failure to thrive	359	AQP2	OMIM:125800
HP:0001508	Failure to thrive	9533	POLR1C	OMIM:616494
HP:0001508	Failure to thrive	9533	POLR1C	ORPHA:861
HP:0001508	Failure to thrive	5971	RELB	OMIM:617585
HP:0001508	Failure to thrive	2542	SLC37A4	OMIM:619525
HP:0001508	Failure to thrive	2542	SLC37A4	ORPHA:79259
HP:0001508	Failure to thrive	57492	ARID1B	ORPHA:251056
HP:0001508	Failure to thrive	675	BRCA2	OMIM:605724
HP:0001508	Failure to thrive	2271	FH	OMIM:606812
HP:0001508	Failure to thrive	9968	MED12	OMIM:301068
HP:0001508	Failure to thrive	57724	EPG5	OMIM:242840
HP:0001508	Failure to thrive	51651	PTRH2	OMIM:616263
HP:0001508	Failure to thrive	51651	PTRH2	ORPHA:456312
HP:0001508	Failure to thrive	5692	PSMB4	OMIM:617591
HP:0001508	Failure to thrive	5698	PSMB9	OMIM:617591
HP:0001508	Failure to thrive	79989	IFT56	OMIM:619534
HP:0001508	Failure to thrive	84522	JAGN1	OMIM:616022
HP:0001508	Failure to thrive	3930	LBR	OMIM:169400
HP:0001508	Failure to thrive	29929	ALG6	ORPHA:79320
HP:0001508	Failure to thrive	79087	ALG12	ORPHA:79324
HP:0001508	Failure to thrive	79087	ALG12	OMIM:607143
HP:0001508	Failure to thrive	10195	ALG3	OMIM:601110
HP:0001508	Failure to thrive	6595	SMARCA2	OMIM:601358
HP:0001508	Failure to thrive	27247	NFU1	OMIM:605711
HP:0001508	Failure to thrive	6261	RYR1	OMIM:619542
HP:0001508	Failure to thrive	6261	RYR1	ORPHA:424107
HP:0001508	Failure to thrive	57505	AARS2	OMIM:614096
HP:0001508	Failure to thrive	3763	KCNJ6	OMIM:614098
HP:0001508	Failure to thrive	3763	KCNJ6	ORPHA:435628
HP:0001508	Failure to thrive	5256	PHKA2	ORPHA:264580
HP:0001508	Failure to thrive	5261	PHKG2	ORPHA:264580
HP:0001508	Failure to thrive	6792	CDKL5	ORPHA:1934
HP:0001508	Failure to thrive	3736	KCNA1	ORPHA:1934
HP:0001508	Failure to thrive	9091	PIGQ	ORPHA:1934
HP:0001508	Failure to thrive	2775	GNAO1	ORPHA:1934
HP:0001508	Failure to thrive	81603	TRIM8	ORPHA:1934
HP:0001508	Failure to thrive	2902	GRIN1	ORPHA:1934
HP:0001508	Failure to thrive	79751	SLC25A22	ORPHA:1934
HP:0001508	Failure to thrive	150094	SIK1	ORPHA:1934
HP:0001508	Failure to thrive	23312	DMXL2	ORPHA:1934
HP:0001508	Failure to thrive	170302	ARX	ORPHA:1934
HP:0001508	Failure to thrive	11284	PNKP	ORPHA:1934
HP:0001508	Failure to thrive	6326	SCN2A	ORPHA:1934
HP:0001508	Failure to thrive	51227	PIGP	ORPHA:1934
HP:0001508	Failure to thrive	6324	SCN1B	ORPHA:1934
HP:0001508	Failure to thrive	4761	NEUROD2	ORPHA:1934
HP:0001508	Failure to thrive	204	AK2	ORPHA:33355
HP:0001508	Failure to thrive	846	CASR	OMIM:239200
HP:0001508	Failure to thrive	4594	MMUT	ORPHA:79312
HP:0001508	Failure to thrive	4594	MMUT	OMIM:251000
HP:0001508	Failure to thrive	54808	DYM	ORPHA:239
HP:0001508	Failure to thrive	973	CD79A	ORPHA:33110
HP:0001508	Failure to thrive	973	CD79A	OMIM:613501
HP:0001508	Failure to thrive	974	CD79B	ORPHA:33110
HP:0001508	Failure to thrive	3543	IGLL1	ORPHA:33110
HP:0001508	Failure to thrive	29760	BLNK	ORPHA:33110
HP:0001508	Failure to thrive	5295	PIK3R1	ORPHA:33110
HP:0001508	Failure to thrive	56262	LRRC8A	ORPHA:33110
HP:0001508	Failure to thrive	84706	GPT2	OMIM:616281
HP:0001508	Failure to thrive	84706	GPT2	ORPHA:477673
HP:0001508	Failure to thrive	5076	PAX2	ORPHA:97362
HP:0001508	Failure to thrive	5087	PBX1	ORPHA:97362
HP:0001508	Failure to thrive	30000	TNPO2	OMIM:619556
HP:0001508	Failure to thrive	54892	NCAPG2	OMIM:618460
HP:0001508	Failure to thrive	498	ATP5F1A	OMIM:616045
HP:0001508	Failure to thrive	498	ATP5F1A	OMIM:620358
HP:0001508	Failure to thrive	79705	LRRK1	OMIM:615198
HP:0001508	Failure to thrive	51728	POLR3K	OMIM:619310
HP:0001508	Failure to thrive	8818	DPM2	ORPHA:329178
HP:0001508	Failure to thrive	256297	PTF1A	OMIM:609069
HP:0001508	Failure to thrive	2627	GATA6	OMIM:600001
HP:0001508	Failure to thrive	2627	GATA6	ORPHA:2255
HP:0001508	Failure to thrive	58484	NLRC4	OMIM:616050
HP:0001508	Failure to thrive	1387	CREBBP	ORPHA:353281
HP:0001508	Failure to thrive	1387	CREBBP	OMIM:180849
HP:0001508	Failure to thrive	1387	CREBBP	ORPHA:353277
HP:0001508	Failure to thrive	26275	HIBCH	ORPHA:88639
HP:0001508	Failure to thrive	26275	HIBCH	OMIM:250620
HP:0001508	Failure to thrive	29998	BICRA	OMIM:619325
HP:0001508	Failure to thrive	22861	NLRP1	OMIM:617388
HP:0001508	Failure to thrive	2033	EP300	ORPHA:353284
HP:0001508	Failure to thrive	2033	EP300	OMIM:180849
HP:0001508	Failure to thrive	10166	SLC25A15	ORPHA:415
HP:0001508	Failure to thrive	10166	SLC25A15	OMIM:238970
HP:0001508	Failure to thrive	79068	FTO	OMIM:612938
HP:0001508	Failure to thrive	8869	ST3GAL5	OMIM:609056
HP:0001508	Failure to thrive	57551	TAOK1	OMIM:619575
HP:0001508	Failure to thrive	2530	FUT8	OMIM:618005
HP:0001508	Failure to thrive	1956	EGFR	OMIM:616069
HP:0001508	Failure to thrive	54496	PRMT7	OMIM:617157
HP:0001508	Failure to thrive	7019	TFAM	OMIM:617156
HP:0001508	Failure to thrive	3394	IRF8	OMIM:226990
HP:0001508	Failure to thrive	5831	PYCR1	OMIM:612940
HP:0001508	Failure to thrive	29920	PYCR2	ORPHA:481152
HP:0001508	Failure to thrive	29920	PYCR2	OMIM:616420
HP:0001508	Failure to thrive	22845	DOLK	OMIM:610768
HP:0001508	Failure to thrive	22845	DOLK	ORPHA:91131
HP:0001508	Failure to thrive	10483	SEC23B	ORPHA:201
HP:0001508	Failure to thrive	5728	PTEN	ORPHA:201
HP:0001508	Failure to thrive	6390	SDHB	ORPHA:201
HP:0001508	Failure to thrive	6392	SDHD	ORPHA:201
HP:0001508	Failure to thrive	6391	SDHC	ORPHA:201
HP:0001508	Failure to thrive	207	AKT1	ORPHA:201
HP:0001508	Failure to thrive	205717	USF3	ORPHA:201
HP:0001508	Failure to thrive	5290	PIK3CA	ORPHA:201
HP:0001508	Failure to thrive	5290	PIK3CA	ORPHA:60040
HP:0001508	Failure to thrive	100144748	KLLN	ORPHA:201
HP:0001508	Failure to thrive	80324	PUS1	OMIM:600462
HP:0001508	Failure to thrive	25942	SIN3A	ORPHA:94065
HP:0001508	Failure to thrive	191	AHCY	ORPHA:88618
HP:0001508	Failure to thrive	191	AHCY	OMIM:613752
HP:0001508	Failure to thrive	9496	TBX4	ORPHA:261279
HP:0001508	Failure to thrive	8091	HMGA2	ORPHA:94063
HP:0001508	Failure to thrive	23592	LEMD3	ORPHA:94063
HP:0001508	Failure to thrive	26276	VPS33B	OMIM:208085
HP:0001508	Failure to thrive	372	ARCN1	OMIM:617164
HP:0001508	Failure to thrive	4714	NDUFB8	OMIM:618252
HP:0001508	Failure to thrive	4714	NDUFB8	ORPHA:70474
HP:0001508	Failure to thrive	84701	COX4I2	OMIM:612714
HP:0001508	Failure to thrive	2628	GATM	OMIM:612718
HP:0001508	Failure to thrive	9791	PTDSS1	OMIM:151050
HP:0001508	Failure to thrive	11340	EXOSC8	OMIM:616081
HP:0001508	Failure to thrive	11340	EXOSC8	ORPHA:2254
HP:0001508	Failure to thrive	35	ACADS	OMIM:201470
HP:0001508	Failure to thrive	35	ACADS	ORPHA:26792
HP:0001508	Failure to thrive	9420	CYP7B1	OMIM:613812
HP:0001508	Failure to thrive	55636	CHD7	ORPHA:39041
HP:0001508	Failure to thrive	3575	IL7R	ORPHA:39041
HP:0001508	Failure to thrive	3575	IL7R	ORPHA:169154
HP:0001508	Failure to thrive	84172	POLR1B	ORPHA:861
HP:0001508	Failure to thrive	51082	POLR1D	ORPHA:861
HP:0001508	Failure to thrive	6949	TCOF1	ORPHA:861
HP:0001508	Failure to thrive	374354	NHLRC2	OMIM:618278
HP:0001508	Failure to thrive	440138	ALG11	ORPHA:280071
HP:0001508	Failure to thrive	23287	AGTPBP1	OMIM:618276
HP:0001508	Failure to thrive	23287	AGTPBP1	ORPHA:2254
HP:0001508	Failure to thrive	64093	SMOC1	OMIM:206920
HP:0001508	Failure to thrive	64093	SMOC1	ORPHA:1106
HP:0001508	Failure to thrive	6299	SALL1	ORPHA:857
HP:0001508	Failure to thrive	51339	DACT1	ORPHA:857
HP:0001508	Failure to thrive	55898	UNC45A	OMIM:619377
HP:0001508	Failure to thrive	23636	NUP62	ORPHA:225154
HP:0001508	Failure to thrive	23636	NUP62	OMIM:271930
HP:0001508	Failure to thrive	103	ADAR	ORPHA:225154
HP:0001508	Failure to thrive	51371	POMP	OMIM:618048
HP:0001508	Failure to thrive	2332	FMR1	ORPHA:261483
HP:0001508	Failure to thrive	1984	EIF5A	OMIM:619376
HP:0001508	Failure to thrive	210	ALAD	OMIM:612740
HP:0001508	Failure to thrive	1583	CYP11A1	ORPHA:168558
HP:0001508	Failure to thrive	1583	CYP11A1	ORPHA:289548
HP:0001508	Failure to thrive	3295	HSD17B4	OMIM:261515
HP:0001508	Failure to thrive	2581	GALC	ORPHA:206436
HP:0001508	Failure to thrive	2581	GALC	OMIM:245200
HP:0001508	Failure to thrive	5660	PSAP	ORPHA:206436
HP:0001508	Failure to thrive	4693	NDP	ORPHA:649
HP:0001508	Failure to thrive	124454	EARS2	OMIM:614924
HP:0001508	Failure to thrive	23522	KAT6B	ORPHA:3047
HP:0001508	Failure to thrive	11011	TLK2	OMIM:618050
HP:0001508	Failure to thrive	3735	KARS1	OMIM:619147
HP:0001508	Failure to thrive	54938	SARS2	OMIM:613845
HP:0001508	Failure to thrive	6584	SLC22A5	OMIM:212140
HP:0001508	Failure to thrive	11113	CIT	OMIM:617090
HP:0001508	Failure to thrive	4702	NDUFA8	OMIM:619272
HP:0001508	Failure to thrive	10128	LRPPRC	OMIM:220111
HP:0001508	Failure to thrive	10128	LRPPRC	ORPHA:70472
HP:0001508	Failure to thrive	10134	BCAP31	OMIM:300475
HP:0001508	Failure to thrive	10134	BCAP31	ORPHA:369939
HP:0001508	Failure to thrive	3376	IARS1	OMIM:617093
HP:0001508	Failure to thrive	259232	NALCN	ORPHA:2053
HP:0001508	Failure to thrive	91574	MTRFR	ORPHA:254930
HP:0001508	Failure to thrive	91574	MTRFR	OMIM:613559
HP:0001508	Failure to thrive	4570	MT-TN	OMIM:220110
HP:0001508	Failure to thrive	10274	STAG1	ORPHA:502434
HP:0001508	Failure to thrive	4774	NFIA	OMIM:613735
HP:0001508	Failure to thrive	8496	PPFIBP1	OMIM:620024
HP:0001508	Failure to thrive	8443	GNPAT	OMIM:222765
HP:0001508	Failure to thrive	6341	SCO1	OMIM:619048
HP:0001508	Failure to thrive	162	AP1B1	OMIM:242150
HP:0001508	Failure to thrive	1352	COX10	OMIM:619046
HP:0001508	Failure to thrive	55163	PNPO	ORPHA:79096
HP:0001508	Failure to thrive	55163	PNPO	OMIM:610090
HP:0001508	Failure to thrive	7015	TERT	OMIM:613989
HP:0001508	Failure to thrive	7015	TERT	ORPHA:3322
HP:0001508	Failure to thrive	7535	ZAP70	OMIM:269840
HP:0001508	Failure to thrive	7535	ZAP70	ORPHA:911
HP:0001508	Failure to thrive	7298	TYMS	OMIM:620040
HP:0001508	Failure to thrive	105371045	PERCC1	ORPHA:92050
HP:0001508	Failure to thrive	51360	MBTPS2	ORPHA:2273
HP:0001508	Failure to thrive	8647	ABCB11	OMIM:601847
HP:0001508	Failure to thrive	3899	AFF3	OMIM:619297
HP:0001508	Failure to thrive	1136	CHRNA3	OMIM:191800
HP:0001508	Failure to thrive	6499	SKIC2	OMIM:614602
HP:0001508	Failure to thrive	340061	STING1	OMIM:615934
HP:0001508	Failure to thrive	3117	HLA-DQA1	OMIM:212750
HP:0001508	Failure to thrive	3119	HLA-DQB1	OMIM:212750
HP:0001508	Failure to thrive	55107	ANO1	OMIM:620045
HP:0001508	Failure to thrive	7080	NKX2-1	ORPHA:209905
HP:0001508	Failure to thrive	5095	PCCA	OMIM:606054
HP:0001508	Failure to thrive	5096	PCCB	OMIM:606054
HP:0001508	Failure to thrive	1717	DHCR7	OMIM:270400
HP:0001508	Failure to thrive	1327	COX4I1	OMIM:619060
HP:0001508	Failure to thrive	58	ACTA1	ORPHA:2020
HP:0001508	Failure to thrive	4633	MYL2	ORPHA:2020
HP:0001508	Failure to thrive	3679	ITGA7	ORPHA:2020
HP:0001508	Failure to thrive	7169	TPM2	ORPHA:2020
HP:0001508	Failure to thrive	9200	HACD1	ORPHA:2020
HP:0001508	Failure to thrive	51776	MAP3K20	ORPHA:2020
HP:0001508	Failure to thrive	132158	GLYCTK	OMIM:220120
HP:0001508	Failure to thrive	28976	ACAD9	ORPHA:99901
HP:0001508	Failure to thrive	5826	ABCD4	OMIM:614857
HP:0001508	Failure to thrive	338328	GPIHBP1	OMIM:615947
HP:0001508	Failure to thrive	2697	GJA1	OMIM:257850
HP:0001508	Failure to thrive	6521	SLC4A1	OMIM:611590
HP:0001508	Failure to thrive	9255	AIMP1	OMIM:260600
HP:0001508	Failure to thrive	540	ATP7B	ORPHA:905
HP:0001508	Failure to thrive	51010	EXOSC3	ORPHA:2254
HP:0001508	Failure to thrive	7443	VRK1	ORPHA:2254
HP:0001508	Failure to thrive	91137	SLC25A46	ORPHA:2254
HP:0001508	Failure to thrive	23600	AMACR	OMIM:214950
HP:0001508	Failure to thrive	6609	SMPD1	OMIM:257200
HP:0001508	Failure to thrive	5700	PSMC1	OMIM:620071
HP:0001508	Failure to thrive	190	NR0B1	OMIM:300200
HP:0001508	Failure to thrive	58508	KMT2C	ORPHA:261652
HP:0001508	Failure to thrive	2548	GAA	ORPHA:308552
HP:0001508	Failure to thrive	5159	PDGFRB	OMIM:601812
HP:0001508	Failure to thrive	4306	NR3C2	OMIM:177735
HP:0001508	Failure to thrive	1811	SLC26A3	OMIM:214700
HP:0001508	Failure to thrive	5832	ALDH18A1	OMIM:219150
HP:0001508	Failure to thrive	3187	HNRNPH1	OMIM:620083
HP:0001508	Failure to thrive	9342	SNAP29	OMIM:609528
HP:0001508	Failure to thrive	64220	STRA6	ORPHA:2470
HP:0001508	Failure to thrive	5915	RARB	ORPHA:2470
HP:0001508	Failure to thrive	23483	TGDS	ORPHA:1388
HP:0001508	Failure to thrive	8195	MKKS	ORPHA:2473
HP:0001508	Failure to thrive	51750	RTEL1	ORPHA:3322
HP:0001508	Failure to thrive	65057	ACD	ORPHA:3322
HP:0001508	Failure to thrive	26277	TINF2	ORPHA:3322
HP:0001508	Failure to thrive	1736	DKC1	ORPHA:3322
HP:0001508	Failure to thrive	506	ATP5F1B	OMIM:620085
HP:0001508	Failure to thrive	51067	YARS2	OMIM:613561
HP:0001508	Failure to thrive	2702	GJA5	OMIM:612474
HP:0001508	Failure to thrive	2703	GJA8	OMIM:612474
HP:0001508	Failure to thrive	867	CBL	OMIM:613563
HP:0001508	Failure to thrive	55690	PACS1	ORPHA:329224
HP:0001508	Failure to thrive	79628	SH3TC2	ORPHA:99949
HP:0001508	Failure to thrive	6307	MSMO1	OMIM:616834
HP:0001508	Failure to thrive	2200	FBN1	ORPHA:2462
HP:0001508	Failure to thrive	55112	DYNC2I1	OMIM:615503
HP:0001508	Failure to thrive	63895	PIEZO2	ORPHA:2461
HP:0001508	Failure to thrive	1828	DSG1	OMIM:615508
HP:0001508	Failure to thrive	6888	TALDO1	OMIM:606003
HP:0001508	Failure to thrive	865	CBFB	OMIM:620099
HP:0001508	Failure to thrive	2068	ERCC2	ORPHA:910
HP:0001508	Failure to thrive	7507	XPA	ORPHA:910
HP:0001508	Failure to thrive	2071	ERCC3	ORPHA:910
HP:0001508	Failure to thrive	7508	XPC	ORPHA:910
HP:0001508	Failure to thrive	1643	DDB2	ORPHA:910
HP:0001508	Failure to thrive	2073	ERCC5	ORPHA:910
HP:0001508	Failure to thrive	5122	PCSK1	ORPHA:71528
HP:0001508	Failure to thrive	2632	GBE1	OMIM:232500
HP:0001508	Failure to thrive	7167	TPI1	OMIM:615512
HP:0001508	Failure to thrive	100151683	RNU4ATAC	OMIM:210710
HP:0001508	Failure to thrive	3932	LCK	OMIM:615758
HP:0001508	Failure to thrive	5443	POMC	ORPHA:71526
HP:0001508	Failure to thrive	5250	SLC25A3	ORPHA:91130
HP:0001508	Failure to thrive	4173	MCM4	OMIM:609981
HP:0001508	Failure to thrive	8050	PDHX	ORPHA:255182
HP:0001508	Failure to thrive	10157	AASS	ORPHA:2203
HP:0001508	Failure to thrive	23095	KIF1B	OMIM:256700
HP:0001508	Failure to thrive	55784	MCTP2	ORPHA:1596
HP:0001508	Failure to thrive	59067	IL21	OMIM:615767
HP:0001508	Failure to thrive	51116	MRPS2	OMIM:617950
HP:0001508	Failure to thrive	9512	PMPCB	OMIM:617954
HP:0001508	Failure to thrive	2058	EPRS1	OMIM:617951
HP:0001508	Failure to thrive	10095	ARPC1B	OMIM:617718
HP:0001508	Failure to thrive	91647	ATPAF2	OMIM:604273
HP:0001508	Failure to thrive	3758	KCNJ1	OMIM:241200
HP:0001508	Failure to thrive	54664	TMEM106B	OMIM:617964
HP:0001508	Failure to thrive	7421	VDR	OMIM:277440
HP:0001508	Failure to thrive	89874	SLC25A21	OMIM:618811
HP:0001508	Failure to thrive	55644	OSGEP	OMIM:617729
HP:0001508	Failure to thrive	2584	GALK1	ORPHA:79237
HP:0001508	Failure to thrive	7874	USP7	ORPHA:500055
HP:0001508	Failure to thrive	51501	HIKESHI	OMIM:616881
HP:0001508	Failure to thrive	23233	EXOC6B	ORPHA:93359
HP:0001508	Failure to thrive	5205	ATP8B1	OMIM:211600
HP:0001508	Failure to thrive	6925	TCF4	ORPHA:2896
HP:0001508	Failure to thrive	189	AGXT	ORPHA:93598
HP:0001508	Failure to thrive	9997	SCO2	ORPHA:70474
HP:0001508	Failure to thrive	7204	TRIO	ORPHA:476126
HP:0001508	Failure to thrive	4780	NFE2L2	OMIM:617744
HP:0001508	Failure to thrive	11005	SPINK5	OMIM:256500
HP:0001508	Failure to thrive	2670	GFAP	ORPHA:363717
HP:0001508	Failure to thrive	5500	PPP1CB	OMIM:617506
HP:0001508	Failure to thrive	54676	GTPBP2	OMIM:617988
HP:0001508	Failure to thrive	100506658	OCLN	OMIM:251290
HP:0001508	Failure to thrive	6519	SLC3A1	ORPHA:163690
HP:0001508	Failure to thrive	6519	SLC3A1	ORPHA:163693
HP:0001508	Failure to thrive	9581	PREPL	ORPHA:163690
HP:0001508	Failure to thrive	9581	PREPL	ORPHA:163693
HP:0001508	Failure to thrive	5495	PPM1B	ORPHA:163693
HP:0001508	Failure to thrive	79823	CAMKMT	ORPHA:163693
HP:0001508	Failure to thrive	9414	TJP2	OMIM:607748
HP:0001508	Failure to thrive	4841	NONO	ORPHA:466791
HP:0001508	Failure to thrive	2819	GPD1	OMIM:614480
HP:0001508	Failure to thrive	529	ATP6V1E1	ORPHA:357074
HP:0001508	Failure to thrive	440	ASNS	OMIM:615574
HP:0001508	Failure to thrive	27040	LAT	OMIM:617514
HP:0001508	Failure to thrive	738	VPS51	OMIM:618606
HP:0001508	Failure to thrive	8815	BANF1	OMIM:614008
HP:0001508	Failure to thrive	25974	MMACHC	ORPHA:79282
HP:0001508	Failure to thrive	25974	MMACHC	OMIM:277400
HP:0001508	Failure to thrive	27249	MMADHC	ORPHA:79283
HP:0001508	Failure to thrive	5430	POLR2A	OMIM:618603
HP:0001508	Failure to thrive	6223	RPS19	OMIM:105650
HP:0001508	Failure to thrive	2639	GCDH	OMIM:231670
HP:0001508	Failure to thrive	101929726	MYMX	OMIM:619941
HP:0001508	Failure to thrive	8803	SUCLA2	OMIM:612073
HP:0001508	Failure to thrive	92935	MARS2	OMIM:616430
HP:0001508	Failure to thrive	79587	CARS2	OMIM:616672
HP:0001508	Failure to thrive	7372	UMPS	OMIM:258900
HP:0001508	Failure to thrive	55753	OGDHL	OMIM:619701
HP:0001508	Failure to thrive	5052	PRDX1	OMIM:277400
HP:0001508	Failure to thrive	2582	GALE	OMIM:230350
HP:0001508	Failure to thrive	10269	ZMPSTE24	ORPHA:740
HP:0001508	Failure to thrive	5631	PRPS1	ORPHA:423479
HP:0001508	Failure to thrive	55697	VAC14	ORPHA:3472
HP:0001508	Failure to thrive	55835	CENPJ	OMIM:613676
HP:0001508	Failure to thrive	25914	RTTN	ORPHA:468631
HP:0001508	Failure to thrive	5191	PEX7	OMIM:215100
HP:0001508	Failure to thrive	5979	RET	OMIM:162300
HP:0001508	Failure to thrive	5979	RET	ORPHA:388
HP:0001508	Failure to thrive	1497	CTNS	OMIM:219800
HP:0001508	Failure to thrive	90268	OTULIN	OMIM:617099
HP:0001508	Failure to thrive	10043	TOM1	OMIM:619510
HP:0001508	Failure to thrive	157680	VPS13B	ORPHA:193
HP:0001508	Failure to thrive	3043	HBB	ORPHA:231214
HP:0001508	Failure to thrive	3043	HBB	ORPHA:231226
HP:0001508	Failure to thrive	5167	ENPP1	ORPHA:51608
HP:0001508	Failure to thrive	368	ABCC6	ORPHA:51608
HP:0001508	Failure to thrive	1859	DYRK1A	ORPHA:268261
HP:0001508	Failure to thrive	1859	DYRK1A	OMIM:614104
HP:0001508	Failure to thrive	7355	SLC35A2	ORPHA:356961
HP:0001508	Failure to thrive	6804	STX1A	ORPHA:904
HP:0001508	Failure to thrive	7461	CLIP2	ORPHA:904
HP:0001508	Failure to thrive	84277	DNAJC30	ORPHA:904
HP:0001508	Failure to thrive	8468	FKBP6	ORPHA:904
HP:0001508	Failure to thrive	5982	RFC2	ORPHA:904
HP:0001508	Failure to thrive	2969	GTF2I	ORPHA:904
HP:0001508	Failure to thrive	3984	LIMK1	ORPHA:904
HP:0001508	Failure to thrive	9569	GTF2IRD1	ORPHA:904
HP:0001508	Failure to thrive	155382	VPS37D	ORPHA:904
HP:0001508	Failure to thrive	155368	METTL27	ORPHA:904
HP:0001508	Failure to thrive	114049	BUD23	ORPHA:904
HP:0001508	Failure to thrive	7458	EIF4H	ORPHA:904
HP:0001508	Failure to thrive	84163	GTF2IRD2	ORPHA:904
HP:0001508	Failure to thrive	9275	BCL7B	ORPHA:904
HP:0001508	Failure to thrive	26608	TBL2	ORPHA:904
HP:0001508	Failure to thrive	653361	NCF1	ORPHA:904
HP:0001508	Failure to thrive	135886	TMEM270	ORPHA:904
HP:0001508	Failure to thrive	51085	MLXIPL	ORPHA:904
HP:0001508	Failure to thrive	51085	MLXIPL	OMIM:194050
HP:0001508	Failure to thrive	9031	BAZ1B	ORPHA:904
HP:0001508	Failure to thrive	2006	ELN	ORPHA:904
HP:0001508	Failure to thrive	2006	ELN	OMIM:194050
HP:0001508	Failure to thrive	5880	RAC2	OMIM:618987
HP:0001508	Failure to thrive	285175	UNC80	OMIM:616801
HP:0001508	Failure to thrive	5836	PYGL	OMIM:232700
HP:0001508	Failure to thrive	3032	HADHB	ORPHA:746
HP:0001508	Failure to thrive	3030	HADHA	ORPHA:746
HP:0001508	Failure to thrive	8405	SPOP	OMIM:618829
HP:0001508	Failure to thrive	7681	MKRN3	OMIM:176270
HP:0001508	Failure to thrive	3653	IPW	OMIM:176270
HP:0001508	Failure to thrive	54551	MAGEL2	OMIM:176270
HP:0001508	Failure to thrive	54551	MAGEL2	OMIM:615547
HP:0001508	Failure to thrive	791114	PWRN1	OMIM:176270
HP:0001508	Failure to thrive	100033413	SNORD116-1	OMIM:176270
HP:0001508	Failure to thrive	8924	HERC2	OMIM:176270
HP:0001508	Failure to thrive	145624	PWAR1	OMIM:176270
HP:0001508	Failure to thrive	23742	NPAP1	OMIM:176270
HP:0001508	Failure to thrive	338433	SNORD115-1	OMIM:176270
HP:0001508	Failure to thrive	215	ABCD1	ORPHA:388
HP:0001508	Failure to thrive	2668	GDNF	ORPHA:388
HP:0001508	Failure to thrive	6608	SMO	ORPHA:388
HP:0001508	Failure to thrive	1889	ECE1	ORPHA:388
HP:0001508	Failure to thrive	6720	SREBF1	ORPHA:388
HP:0001508	Failure to thrive	1908	EDN3	ORPHA:388
HP:0001508	Failure to thrive	223117	SEMA3D	ORPHA:388
HP:0001508	Failure to thrive	538	ATP7A	ORPHA:388
HP:0001508	Failure to thrive	1910	EDNRB	ORPHA:388
HP:0001508	Failure to thrive	10512	SEMA3C	ORPHA:388
HP:0001508	Failure to thrive	2064	ERBB2	ORPHA:388
HP:0001508	Failure to thrive	2065	ERBB3	ORPHA:388
HP:0001508	Failure to thrive	4902	NRTN	ORPHA:388
HP:0001508	Failure to thrive	10743	RAI1	ORPHA:477817
HP:0001508	Failure to thrive	10743	RAI1	ORPHA:819
HP:0001508	Failure to thrive	6340	SCNN1G	ORPHA:171876
HP:0001508	Failure to thrive	6337	SCNN1A	ORPHA:171876
HP:0001508	Failure to thrive	6338	SCNN1B	ORPHA:171876
HP:0001508	Failure to thrive	2222	FDFT1	OMIM:618156
HP:0001508	Failure to thrive	83737	ITCH	OMIM:613385
HP:0001508	Failure to thrive	83737	ITCH	ORPHA:228426
HP:0001508	Failure to thrive	4056	LTC4S	OMIM:614037
HP:0001508	Failure to thrive	2260	FGFR1	ORPHA:2645
HP:0001508	Failure to thrive	3557	IL1RN	OMIM:612852
HP:0001508	Failure to thrive	2314	FLII	ORPHA:819
HP:0001508	Failure to thrive	23096	IQSEC2	ORPHA:819
HP:0001508	Failure to thrive	10522	DEAF1	ORPHA:819
HP:0001508	Failure to thrive	10165	SLC25A13	ORPHA:247598
HP:0001508	Failure to thrive	29072	SETD2	OMIM:620155
HP:0001508	Failure to thrive	9382	COG1	OMIM:611209
HP:0001508	Failure to thrive	3718	JAK3	ORPHA:35078
HP:0001508	Failure to thrive	2067	ERCC1	OMIM:610758
HP:0001508	Failure to thrive	25839	COG4	ORPHA:263501
HP:0001508	Failure to thrive	5422	POLA1	OMIM:301220
HP:0001508	Failure to thrive	56992	KIF15	ORPHA:261323
HP:0001508	Failure to thrive	1439	CSF2RB	ORPHA:264675
HP:0001508	Failure to thrive	1438	CSF2RA	ORPHA:264675
HP:0001508	Failure to thrive	7084	TK2	ORPHA:254875
HP:0001508	Failure to thrive	5699	PSMB10	OMIM:619175
HP:0001508	Failure to thrive	6651	SON	ORPHA:500150
HP:0001508	Failure to thrive	10463	SLC30A9	OMIM:617595
HP:0001508	Failure to thrive	27086	FOXP1	OMIM:613670
HP:0001508	Failure to thrive	9401	RECQL4	ORPHA:1225
HP:0001508	Failure to thrive	8565	YARS1	OMIM:619418
HP:0001508	Failure to thrive	50943	FOXP3	ORPHA:37042
HP:0001508	Failure to thrive	26007	TKFC	OMIM:618805
HP:0001508	Failure to thrive	5604	MAP2K1	ORPHA:1340
HP:0001508	Failure to thrive	5604	MAP2K1	OMIM:163950
HP:0001508	Failure to thrive	5605	MAP2K2	ORPHA:1340
HP:0001508	Failure to thrive	3845	KRAS	ORPHA:1340
HP:0001508	Failure to thrive	673	BRAF	ORPHA:1340
HP:0001508	Failure to thrive	673	BRAF	OMIM:163950
HP:0001508	Failure to thrive	64116	SLC39A8	ORPHA:468699
HP:0001508	Failure to thrive	10225	CD96	ORPHA:1308
HP:0001508	Failure to thrive	3431	SP110	ORPHA:79124
HP:0001508	Failure to thrive	83480	PUS3	ORPHA:488627
HP:0001508	Failure to thrive	9896	FIG4	OMIM:216340
HP:0001508	Failure to thrive	3265	HRAS	ORPHA:3071
HP:0001508	Failure to thrive	6567	SLC16A2	ORPHA:59
HP:0001508	Failure to thrive	9377	COX5A	OMIM:619064
HP:0001508	Failure to thrive	56922	MCCC1	ORPHA:6
HP:0001508	Failure to thrive	64087	MCCC2	ORPHA:6
HP:0001508	Failure to thrive	29968	PSAT1	ORPHA:284417
HP:0001508	Failure to thrive	84842	HPDL	OMIM:619026
HP:0001508	Failure to thrive	56160	NSMCE3	OMIM:617241
HP:0001508	Failure to thrive	5718	PSMD12	ORPHA:529962
HP:0001508	Failure to thrive	2186	BPTF	ORPHA:529962
HP:0001508	Failure to thrive	84342	COG8	OMIM:611182
HP:0001508	Failure to thrive	4697	NDUFA4	OMIM:619065
HP:0001508	Failure to thrive	833	CARS1	OMIM:618891
HP:0001508	Failure to thrive	7043	TGFB3	OMIM:615582
HP:0001508	Failure to thrive	9276	COPB2	OMIM:617800
HP:0001508	Failure to thrive	4654	MYOD1	OMIM:618975
HP:0001508	Failure to thrive	23495	TNFRSF13B	ORPHA:1572
HP:0001508	Failure to thrive	4790	NFKB1	ORPHA:1572
HP:0001508	Failure to thrive	4791	NFKB2	ORPHA:1572
HP:0001508	Failure to thrive	115650	TNFRSF13C	ORPHA:1572
HP:0001508	Failure to thrive	1380	CR2	ORPHA:1572
HP:0001508	Failure to thrive	8742	TNFSF12	ORPHA:1572
HP:0001508	Failure to thrive	5580	PRKCD	ORPHA:1572
HP:0001508	Failure to thrive	930	CD19	ORPHA:1572
HP:0001508	Failure to thrive	29851	ICOS	ORPHA:1572
HP:0001508	Failure to thrive	931	MS4A1	ORPHA:1572
HP:0001508	Failure to thrive	975	CD81	ORPHA:1572
HP:0001508	Failure to thrive	359948	IRF2BP2	ORPHA:1572
HP:0001508	Failure to thrive	4598	MVK	OMIM:610377
HP:0001508	Failure to thrive	3559	IL2RA	OMIM:606367
HP:0001508	Failure to thrive	26040	SETBP1	ORPHA:798
HP:0001508	Failure to thrive	5781	PTPN11	OMIM:163950
HP:0001508	Failure to thrive	916	CD3E	ORPHA:169160
HP:0011720	Cardiac total anomalous pulmonary venous connection	7490	WT1	OMIM:608978
HP:0011723	Congenital malformation of the right heart	7547	ZIC3	OMIM:306955
HP:0011723	Congenital malformation of the right heart	9897	WASHC5	OMIM:220210
HP:0011723	Congenital malformation of the right heart	10735	STAG2	OMIM:301043
HP:0011723	Congenital malformation of the right heart	6909	TBX2	OMIM:618223
HP:0011723	Congenital malformation of the right heart	23007	PLCH1	OMIM:619895
HP:0011723	Congenital malformation of the right heart	10526	IPO8	OMIM:619472
HP:0011723	Congenital malformation of the right heart	84231	TRAF7	OMIM:618164
HP:0011723	Congenital malformation of the right heart	9487	PIGL	OMIM:280000
HP:0011723	Congenital malformation of the right heart	4087	SMAD2	OMIM:619657
HP:0011723	Congenital malformation of the right heart	140628	GATA5	OMIM:617912
HP:0011723	Congenital malformation of the right heart	5824	PEX19	OMIM:614886
HP:0011723	Congenital malformation of the right heart	55191	NADSYN1	OMIM:618845
HP:0011723	Congenital malformation of the right heart	2657	GDF1	OMIM:613854
HP:0011723	Congenital malformation of the right heart	4838	NODAL	OMIM:270100
HP:0011723	Congenital malformation of the right heart	526	ATP6V1B2	ORPHA:79500
HP:0011723	Congenital malformation of the right heart	57465	TBC1D24	ORPHA:79500
HP:0011723	Congenital malformation of the right heart	9451	EIF2AK3	ORPHA:1667
HP:0011723	Congenital malformation of the right heart	4851	NOTCH1	OMIM:109730
HP:0011723	Congenital malformation of the right heart	55593	OTUD5	OMIM:301056
HP:0011723	Congenital malformation of the right heart	4313	MMP2	ORPHA:371428
HP:0011723	Congenital malformation of the right heart	4323	MMP14	ORPHA:371428
HP:0011723	Congenital malformation of the right heart	25981	DNAH1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	115948	ODAD3	ORPHA:244
HP:0011723	Congenital malformation of the right heart	54768	HYDIN	ORPHA:244
HP:0011723	Congenital malformation of the right heart	352909	DNAAF3	ORPHA:244
HP:0011723	Congenital malformation of the right heart	27148	STK36	ORPHA:244
HP:0011723	Congenital malformation of the right heart	51314	NME8	ORPHA:244
HP:0011723	Congenital malformation of the right heart	92749	DRC1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	54970	TTC12	ORPHA:244
HP:0011723	Congenital malformation of the right heart	152110	NEK10	ORPHA:244
HP:0011723	Congenital malformation of the right heart	8481	OFD1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	2302	FOXJ1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	221421	RSPH9	ORPHA:244
HP:0011723	Congenital malformation of the right heart	85478	CCDC65	ORPHA:244
HP:0011723	Congenital malformation of the right heart	55036	CCDC40	ORPHA:244
HP:0011723	Congenital malformation of the right heart	51364	ZMYND10	ORPHA:244
HP:0011723	Congenital malformation of the right heart	64446	DNAI2	ORPHA:244
HP:0011723	Congenital malformation of the right heart	6674	SPAG1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	83544	DNAL1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	89765	RSPH1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	83538	ODAD4	ORPHA:244
HP:0011723	Congenital malformation of the right heart	200373	CFAP221	ORPHA:244
HP:0011723	Congenital malformation of the right heart	374407	DNAJB13	ORPHA:244
HP:0011723	Congenital malformation of the right heart	55172	DNAAF2	ORPHA:244
HP:0011723	Congenital malformation of the right heart	161582	DNAAF4	ORPHA:244
HP:0011723	Congenital malformation of the right heart	2622	GAS8	ORPHA:244
HP:0011723	Congenital malformation of the right heart	23639	DNAAF11	ORPHA:244
HP:0011723	Congenital malformation of the right heart	27019	DNAI1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	345895	RSPH4A	ORPHA:244
HP:0011723	Congenital malformation of the right heart	54919	DNAAF5	ORPHA:244
HP:0011723	Congenital malformation of the right heart	6103	RPGR	ORPHA:244
HP:0011723	Congenital malformation of the right heart	388389	CCDC103	ORPHA:244
HP:0011723	Congenital malformation of the right heart	93233	ODAD1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	93233	ODAD1	OMIM:615067
HP:0011723	Congenital malformation of the right heart	55130	ODAD2	ORPHA:244
HP:0011723	Congenital malformation of the right heart	1767	DNAH5	ORPHA:244
HP:0011723	Congenital malformation of the right heart	83861	RSPH3	ORPHA:244
HP:0011723	Congenital malformation of the right heart	345643	MCIDAS	ORPHA:244
HP:0011723	Congenital malformation of the right heart	56683	CFAP298	ORPHA:244
HP:0011723	Congenital malformation of the right heart	79925	SPEF2	ORPHA:244
HP:0011723	Congenital malformation of the right heart	10309	CCNO	ORPHA:244
HP:0011723	Congenital malformation of the right heart	115399	LRRC56	ORPHA:244
HP:0011723	Congenital malformation of the right heart	115399	LRRC56	OMIM:618254
HP:0011723	Congenital malformation of the right heart	139212	DNAAF6	ORPHA:244
HP:0011723	Congenital malformation of the right heart	123872	DNAAF1	ORPHA:244
HP:0011723	Congenital malformation of the right heart	85016	CFAP300	ORPHA:244
HP:0011723	Congenital malformation of the right heart	339829	CCDC39	ORPHA:244
HP:0011723	Congenital malformation of the right heart	8701	DNAH11	ORPHA:244
HP:0011723	Congenital malformation of the right heart	1770	DNAH9	ORPHA:244
HP:0011723	Congenital malformation of the right heart	246176	GAS2L2	ORPHA:244
HP:0011723	Congenital malformation of the right heart	10743	RAI1	ORPHA:477817
HP:0011723	Congenital malformation of the right heart	54880	BCOR	OMIM:300166
HP:0011723	Congenital malformation of the right heart	285590	SH3PXD2B	OMIM:249420
HP:0011723	Congenital malformation of the right heart	2623	GATA1	OMIM:190685
HP:0011723	Congenital malformation of the right heart	168507	PKD1L1	OMIM:617205
HP:0011723	Congenital malformation of the right heart	220136	CFAP53	OMIM:614779
HP:0011723	Congenital malformation of the right heart	55636	CHD7	OMIM:214800
HP:0011723	Congenital malformation of the right heart	2783	GNB2	OMIM:619503
HP:0011723	Congenital malformation of the right heart	7319	UBE2A	ORPHA:163956
HP:0011723	Congenital malformation of the right heart	9772	TMEM94	OMIM:618316
HP:0011723	Congenital malformation of the right heart	100128908	CIROP	OMIM:619702
HP:0011723	Congenital malformation of the right heart	55997	CFC1	OMIM:605376
HP:0011723	Congenital malformation of the right heart	137814	NKX2-6	OMIM:217095
HP:0011723	Congenital malformation of the right heart	1482	NKX2-5	OMIM:217095
HP:0011723	Congenital malformation of the right heart	6899	TBX1	OMIM:217095
HP:0011723	Congenital malformation of the right heart	2627	GATA6	OMIM:217095
HP:0011723	Congenital malformation of the right heart	5053	PAH	ORPHA:2209
HP:0011723	Congenital malformation of the right heart	523	ATP6V1A	OMIM:617403
HP:0011723	Congenital malformation of the right heart	1857	DVL3	OMIM:616894
HP:0011723	Congenital malformation of the right heart	348180	CTU2	OMIM:618142
HP:0011723	Congenital malformation of the right heart	55784	MCTP2	ORPHA:1596
HP:0011723	Congenital malformation of the right heart	26191	PTPN22	ORPHA:397
HP:0011723	Congenital malformation of the right heart	3106	HLA-B	ORPHA:397
HP:0011723	Congenital malformation of the right heart	3123	HLA-DRB1	ORPHA:397
HP:0011723	Congenital malformation of the right heart	8974	P4HA2	ORPHA:397
HP:0011726	Persistent fetal circulation	7386	UQCRFS1	OMIM:618775
HP:0011727	Peroneal muscle weakness	4000	LMNA	OMIM:181350
HP:0011727	Peroneal muscle weakness	1757	SARDH	ORPHA:3129
HP:0011727	Peroneal muscle weakness	65055	REEP1	OMIM:614751
HP:0011727	Peroneal muscle weakness	5376	PMP22	ORPHA:90658
HP:0011727	Peroneal muscle weakness	2218	FKTN	OMIM:611588
HP:0011727	Peroneal muscle weakness	54332	GDAP1	ORPHA:101097
HP:0011727	Peroneal muscle weakness	59341	TRPV4	OMIM:181405
HP:0011727	Peroneal muscle weakness	2992	GYG1	OMIM:616199
HP:0011729	Abnormality of joint mobility	6197	RPS6KA3	OMIM:303600
HP:0011729	Abnormality of joint mobility	9791	PTDSS1	OMIM:151050
HP:0011729	Abnormality of joint mobility	9759	HDAC4	OMIM:619797
HP:0011729	Abnormality of joint mobility	3756	KCNH1	OMIM:135500
HP:0011729	Abnormality of joint mobility	57479	PRR12	OMIM:619539
HP:0011729	Abnormality of joint mobility	6611	SMS	OMIM:309583
HP:0011729	Abnormality of joint mobility	673	BRAF	OMIM:115150
HP:0011729	Abnormality of joint mobility	91461	PKDCC	OMIM:618821
HP:0011729	Abnormality of joint mobility	92344	GORAB	OMIM:231070
HP:0011729	Abnormality of joint mobility	54499	TMCO1	OMIM:213980
HP:0011729	Abnormality of joint mobility	387733	IFITM5	OMIM:610967
HP:0011729	Abnormality of joint mobility	51633	OTUD6B	ORPHA:505237
HP:0011729	Abnormality of joint mobility	23114	NFASC	OMIM:618356
HP:0011729	Abnormality of joint mobility	1289	COL5A1	OMIM:130000
HP:0011729	Abnormality of joint mobility	54872	PIGG	ORPHA:488635
HP:0011729	Abnormality of joint mobility	1278	COL1A2	OMIM:617821
HP:0011729	Abnormality of joint mobility	427	ASAH1	OMIM:228000
HP:0011729	Abnormality of joint mobility	9373	PLAA	ORPHA:521426
HP:0011729	Abnormality of joint mobility	2783	GNB2	OMIM:619503
HP:0011729	Abnormality of joint mobility	3265	HRAS	OMIM:218040
HP:0011729	Abnormality of joint mobility	121340	SP7	OMIM:613849
HP:0011729	Abnormality of joint mobility	3549	IHH	OMIM:112500
HP:0011729	Abnormality of joint mobility	3549	IHH	ORPHA:93388
HP:0011729	Abnormality of joint mobility	3861	KRT14	ORPHA:69087
HP:0011729	Abnormality of joint mobility	57863	CADM3	OMIM:619519
HP:0011729	Abnormality of joint mobility	64374	SIL1	OMIM:248800
HP:0011729	Abnormality of joint mobility	3763	KCNJ6	ORPHA:435628
HP:0011729	Abnormality of joint mobility	3763	KCNJ6	OMIM:614098
HP:0011729	Abnormality of joint mobility	9131	AIFM1	OMIM:300232
HP:0011729	Abnormality of joint mobility	2895	GRID2	OMIM:616204
HP:0011729	Abnormality of joint mobility	775	CACNA1C	OMIM:620029
HP:0011729	Abnormality of joint mobility	4047	LSS	ORPHA:2850
HP:0011729	Abnormality of joint mobility	197	AHSG	ORPHA:2850
HP:0011729	Abnormality of joint mobility	3694	ITGB6	ORPHA:2850
HP:0011729	Abnormality of joint mobility	29072	SETD2	ORPHA:821
HP:0011729	Abnormality of joint mobility	10297	APC2	ORPHA:821
HP:0011729	Abnormality of joint mobility	4072	EPCAM	ORPHA:144
HP:0011729	Abnormality of joint mobility	4292	MLH1	ORPHA:144
HP:0011729	Abnormality of joint mobility	5395	PMS2	ORPHA:144
HP:0011729	Abnormality of joint mobility	27030	MLH3	ORPHA:144
HP:0011729	Abnormality of joint mobility	22909	FAN1	ORPHA:144
HP:0011729	Abnormality of joint mobility	3845	KRAS	ORPHA:144
HP:0011729	Abnormality of joint mobility	5290	PIK3CA	ORPHA:144
HP:0011729	Abnormality of joint mobility	2956	MSH6	ORPHA:144
HP:0011729	Abnormality of joint mobility	5378	PMS1	ORPHA:144
HP:0011729	Abnormality of joint mobility	4436	MSH2	ORPHA:144
HP:0011729	Abnormality of joint mobility	6775	STAT4	ORPHA:85408
HP:0011729	Abnormality of joint mobility	3560	IL2RB	ORPHA:85408
HP:0011729	Abnormality of joint mobility	79722	ANKRD55	ORPHA:85408
HP:0011729	Abnormality of joint mobility	26191	PTPN22	ORPHA:85408
HP:0011729	Abnormality of joint mobility	919	CD247	ORPHA:85408
HP:0011729	Abnormality of joint mobility	3559	IL2RA	ORPHA:85408
HP:0011729	Abnormality of joint mobility	5771	PTPN2	ORPHA:85408
HP:0011729	Abnormality of joint mobility	8443	GNPAT	OMIM:222765
HP:0011729	Abnormality of joint mobility	3020	H3-3A	OMIM:619720
HP:0011729	Abnormality of joint mobility	64218	SEMA4A	ORPHA:440437
HP:0011729	Abnormality of joint mobility	657	BMPR1A	ORPHA:440437
HP:0011729	Abnormality of joint mobility	6224	RPS20	ORPHA:440437
HP:0011729	Abnormality of joint mobility	65082	VPS33A	OMIM:617303
HP:0011729	Abnormality of joint mobility	65082	VPS33A	ORPHA:505248
HP:0011729	Abnormality of joint mobility	84197	POMK	OMIM:615249
HP:0011729	Abnormality of joint mobility	128486	FITM2	OMIM:618635
HP:0011729	Abnormality of joint mobility	23431	AP4E1	OMIM:613744
HP:0011729	Abnormality of joint mobility	3908	LAMA2	ORPHA:258
HP:0011729	Abnormality of joint mobility	3908	LAMA2	OMIM:607855
HP:0011729	Abnormality of joint mobility	1798	DPAGT1	ORPHA:353327
HP:0011729	Abnormality of joint mobility	1798	DPAGT1	ORPHA:86309
HP:0011729	Abnormality of joint mobility	1798	DPAGT1	OMIM:608093
HP:0011729	Abnormality of joint mobility	85365	ALG2	ORPHA:353327
HP:0011729	Abnormality of joint mobility	6595	SMARCA2	OMIM:619293
HP:0011729	Abnormality of joint mobility	23250	ATP11A	OMIM:619851
HP:0011729	Abnormality of joint mobility	7345	UCHL1	OMIM:615491
HP:0011729	Abnormality of joint mobility	274	BIN1	OMIM:255200
HP:0011729	Abnormality of joint mobility	50814	NSDHL	OMIM:308050
HP:0011729	Abnormality of joint mobility	1889	ECE1	OMIM:613870
HP:0011729	Abnormality of joint mobility	55157	DARS2	ORPHA:137898
HP:0011729	Abnormality of joint mobility	55157	DARS2	OMIM:611105
HP:0011729	Abnormality of joint mobility	8560	DEGS1	OMIM:618404
HP:0011729	Abnormality of joint mobility	6445	SGCG	OMIM:253700
HP:0011729	Abnormality of joint mobility	546	ATRX	ORPHA:847
HP:0011729	Abnormality of joint mobility	5191	PEX7	OMIM:215100
HP:0011729	Abnormality of joint mobility	3848	KRT1	ORPHA:79503
HP:0011729	Abnormality of joint mobility	56984	PSMG2	OMIM:619183
HP:0011729	Abnormality of joint mobility	9839	ZEB2	ORPHA:261552
HP:0011729	Abnormality of joint mobility	9839	ZEB2	ORPHA:261537
HP:0011729	Abnormality of joint mobility	4633	MYL2	ORPHA:2020
HP:0011729	Abnormality of joint mobility	3679	ITGA7	ORPHA:2020
HP:0011729	Abnormality of joint mobility	9200	HACD1	ORPHA:2020
HP:0011729	Abnormality of joint mobility	51776	MAP3K20	ORPHA:2020
HP:0011729	Abnormality of joint mobility	22872	SEC31A	OMIM:618651
HP:0011729	Abnormality of joint mobility	84314	TMEM107	OMIM:617562
HP:0011729	Abnormality of joint mobility	10682	EBP	ORPHA:35173
HP:0011729	Abnormality of joint mobility	1641	DCX	ORPHA:2148
HP:0011729	Abnormality of joint mobility	28514	DLL1	ORPHA:93926
HP:0011729	Abnormality of joint mobility	28514	DLL1	ORPHA:93924
HP:0011729	Abnormality of joint mobility	28514	DLL1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	28514	DLL1	ORPHA:220386
HP:0011729	Abnormality of joint mobility	2253	FGF8	ORPHA:93926
HP:0011729	Abnormality of joint mobility	2253	FGF8	ORPHA:93924
HP:0011729	Abnormality of joint mobility	2253	FGF8	ORPHA:93925
HP:0011729	Abnormality of joint mobility	2253	FGF8	ORPHA:220386
HP:0011729	Abnormality of joint mobility	6496	SIX3	ORPHA:93926
HP:0011729	Abnormality of joint mobility	6496	SIX3	ORPHA:93924
HP:0011729	Abnormality of joint mobility	6496	SIX3	ORPHA:93925
HP:0011729	Abnormality of joint mobility	6496	SIX3	ORPHA:220386
HP:0011729	Abnormality of joint mobility	7050	TGIF1	ORPHA:93926
HP:0011729	Abnormality of joint mobility	7050	TGIF1	ORPHA:93924
HP:0011729	Abnormality of joint mobility	7050	TGIF1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	7050	TGIF1	ORPHA:220386
HP:0011729	Abnormality of joint mobility	4838	NODAL	ORPHA:93926
HP:0011729	Abnormality of joint mobility	4838	NODAL	ORPHA:93924
HP:0011729	Abnormality of joint mobility	4838	NODAL	ORPHA:93925
HP:0011729	Abnormality of joint mobility	4838	NODAL	ORPHA:220386
HP:0011729	Abnormality of joint mobility	7546	ZIC2	ORPHA:93926
HP:0011729	Abnormality of joint mobility	7546	ZIC2	ORPHA:93924
HP:0011729	Abnormality of joint mobility	7546	ZIC2	ORPHA:93925
HP:0011729	Abnormality of joint mobility	7546	ZIC2	ORPHA:220386
HP:0011729	Abnormality of joint mobility	6491	STIL	ORPHA:93926
HP:0011729	Abnormality of joint mobility	6491	STIL	ORPHA:93924
HP:0011729	Abnormality of joint mobility	6491	STIL	ORPHA:93925
HP:0011729	Abnormality of joint mobility	6491	STIL	ORPHA:220386
HP:0011729	Abnormality of joint mobility	2619	GAS1	ORPHA:93926
HP:0011729	Abnormality of joint mobility	2619	GAS1	ORPHA:93924
HP:0011729	Abnormality of joint mobility	2619	GAS1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	2619	GAS1	ORPHA:220386
HP:0011729	Abnormality of joint mobility	84976	DISP1	ORPHA:93926
HP:0011729	Abnormality of joint mobility	84976	DISP1	ORPHA:93924
HP:0011729	Abnormality of joint mobility	84976	DISP1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	84976	DISP1	ORPHA:220386
HP:0011729	Abnormality of joint mobility	2736	GLI2	ORPHA:93926
HP:0011729	Abnormality of joint mobility	2736	GLI2	ORPHA:93924
HP:0011729	Abnormality of joint mobility	2736	GLI2	ORPHA:93925
HP:0011729	Abnormality of joint mobility	2736	GLI2	ORPHA:220386
HP:0011729	Abnormality of joint mobility	8928	FOXH1	ORPHA:93926
HP:0011729	Abnormality of joint mobility	8928	FOXH1	ORPHA:93924
HP:0011729	Abnormality of joint mobility	8928	FOXH1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	8928	FOXH1	ORPHA:220386
HP:0011729	Abnormality of joint mobility	50937	CDON	ORPHA:93926
HP:0011729	Abnormality of joint mobility	50937	CDON	ORPHA:93924
HP:0011729	Abnormality of joint mobility	50937	CDON	ORPHA:93925
HP:0011729	Abnormality of joint mobility	50937	CDON	ORPHA:220386
HP:0011729	Abnormality of joint mobility	4632	MYL1	OMIM:618414
HP:0011729	Abnormality of joint mobility	2752	GLUL	OMIM:610015
HP:0011729	Abnormality of joint mobility	23007	PLCH1	ORPHA:93925
HP:0011729	Abnormality of joint mobility	10735	STAG2	ORPHA:93925
HP:0011729	Abnormality of joint mobility	10735	STAG2	ORPHA:220386
HP:0011729	Abnormality of joint mobility	3782	KCNN3	OMIM:618658
HP:0011729	Abnormality of joint mobility	11285	B4GALT7	OMIM:130070
HP:0011729	Abnormality of joint mobility	11285	B4GALT7	ORPHA:75496
HP:0011729	Abnormality of joint mobility	10717	AP4B1	OMIM:614066
HP:0011729	Abnormality of joint mobility	149371	EXOC8	OMIM:619076
HP:0011729	Abnormality of joint mobility	11154	AP4S1	OMIM:614067
HP:0011729	Abnormality of joint mobility	55699	IARS2	OMIM:616007
HP:0011729	Abnormality of joint mobility	9289	ADGRG1	ORPHA:98889
HP:0011729	Abnormality of joint mobility	27286	SRPX2	ORPHA:98889
HP:0011729	Abnormality of joint mobility	26137	ZBTB20	OMIM:259050
HP:0011729	Abnormality of joint mobility	26137	ZBTB20	ORPHA:3042
HP:0011729	Abnormality of joint mobility	64419	MTMR14	OMIM:160150
HP:0011729	Abnormality of joint mobility	57152	SLURP1	ORPHA:87503
HP:0011729	Abnormality of joint mobility	27086	FOXP1	ORPHA:391372
HP:0011729	Abnormality of joint mobility	773	CACNA1A	OMIM:617106
HP:0011729	Abnormality of joint mobility	6506	SLC1A2	OMIM:617105
HP:0011729	Abnormality of joint mobility	388015	RTL1	ORPHA:96334
HP:0011729	Abnormality of joint mobility	388015	RTL1	ORPHA:254528
HP:0011729	Abnormality of joint mobility	8788	DLK1	ORPHA:96334
HP:0011729	Abnormality of joint mobility	8788	DLK1	ORPHA:254528
HP:0011729	Abnormality of joint mobility	55384	MEG3	ORPHA:96334
HP:0011729	Abnormality of joint mobility	55384	MEG3	ORPHA:254528
HP:0011729	Abnormality of joint mobility	51085	MLXIPL	OMIM:194050
HP:0011729	Abnormality of joint mobility	2006	ELN	OMIM:194050
HP:0011729	Abnormality of joint mobility	487	ATP2A1	OMIM:601003
HP:0011729	Abnormality of joint mobility	4677	NARS1	OMIM:619091
HP:0011729	Abnormality of joint mobility	22906	TRAK1	OMIM:618201
HP:0011729	Abnormality of joint mobility	81031	SLC2A10	OMIM:208050
HP:0011729	Abnormality of joint mobility	5692	PSMB4	OMIM:617591
HP:0011729	Abnormality of joint mobility	5698	PSMB9	OMIM:617591
HP:0011729	Abnormality of joint mobility	51227	PIGP	OMIM:617599
HP:0011729	Abnormality of joint mobility	55275	VPS53	OMIM:615851
HP:0011729	Abnormality of joint mobility	84570	COL25A1	ORPHA:1143
HP:0011729	Abnormality of joint mobility	6567	SLC16A2	ORPHA:59
HP:0011729	Abnormality of joint mobility	6567	SLC16A2	OMIM:300523
HP:0011729	Abnormality of joint mobility	1387	CREBBP	OMIM:618332
HP:0011729	Abnormality of joint mobility	1387	CREBBP	OMIM:180849
HP:0011729	Abnormality of joint mobility	81570	CLPB	OMIM:616271
HP:0011729	Abnormality of joint mobility	667	DST	OMIM:614653
HP:0011729	Abnormality of joint mobility	3329	HSPD1	OMIM:612233
HP:0011729	Abnormality of joint mobility	284119	CAVIN1	OMIM:613327
HP:0011729	Abnormality of joint mobility	55770	EXOC2	OMIM:619306
HP:0011729	Abnormality of joint mobility	8905	AP1S2	OMIM:304340
HP:0011729	Abnormality of joint mobility	9927	MFN2	ORPHA:99947
HP:0011729	Abnormality of joint mobility	9927	MFN2	OMIM:609260
HP:0011729	Abnormality of joint mobility	4001	LMNB1	ORPHA:99027
HP:0011729	Abnormality of joint mobility	389827	MYMK	OMIM:254940
HP:0011729	Abnormality of joint mobility	10075	HUWE1	OMIM:309590
HP:0011729	Abnormality of joint mobility	9663	LPIN2	OMIM:609628
HP:0011729	Abnormality of joint mobility	9663	LPIN2	ORPHA:77297
HP:0011729	Abnormality of joint mobility	84706	GPT2	OMIM:616281
HP:0011729	Abnormality of joint mobility	579	NKX3-2	OMIM:613330
HP:0011729	Abnormality of joint mobility	1756	DMD	OMIM:310200
HP:0011729	Abnormality of joint mobility	1756	DMD	ORPHA:98896
HP:0011729	Abnormality of joint mobility	9526	MPDU1	OMIM:609180
HP:0011729	Abnormality of joint mobility	203547	VMA21	OMIM:310440
HP:0011729	Abnormality of joint mobility	4747	NEFL	OMIM:607684
HP:0011729	Abnormality of joint mobility	256297	PTF1A	OMIM:609069
HP:0011729	Abnormality of joint mobility	411	ARSB	OMIM:253200
HP:0011729	Abnormality of joint mobility	6442	SGCA	OMIM:608099
HP:0011729	Abnormality of joint mobility	10049	DNAJB6	OMIM:603511
HP:0011729	Abnormality of joint mobility	79868	ALG13	OMIM:300884
HP:0011729	Abnormality of joint mobility	8882	ZPR1	OMIM:619321
HP:0011729	Abnormality of joint mobility	10229	COQ7	OMIM:616733
HP:0011729	Abnormality of joint mobility	112939	NACC1	ORPHA:500545
HP:0011729	Abnormality of joint mobility	29078	NDUFAF4	OMIM:618237
HP:0011729	Abnormality of joint mobility	5831	PYCR1	OMIM:614438
HP:0011729	Abnormality of joint mobility	5010	CLDN11	OMIM:619328
HP:0011729	Abnormality of joint mobility	4204	MECP2	OMIM:300055
HP:0011729	Abnormality of joint mobility	3039	HBA1	ORPHA:98791
HP:0011729	Abnormality of joint mobility	3040	HBA2	ORPHA:98791
HP:0011729	Abnormality of joint mobility	10940	POP1	OMIM:617396
HP:0011729	Abnormality of joint mobility	11253	MAN1B1	OMIM:614202
HP:0011729	Abnormality of joint mobility	6331	SCN5A	ORPHA:1344
HP:0011729	Abnormality of joint mobility	4878	NPPA	ORPHA:1344
HP:0011729	Abnormality of joint mobility	64856	VWA1	OMIM:619216
HP:0011729	Abnormality of joint mobility	7965	AIMP2	OMIM:618006
HP:0011729	Abnormality of joint mobility	9361	LONP1	ORPHA:79243
HP:0011729	Abnormality of joint mobility	5160	PDHA1	ORPHA:79243
HP:0011729	Abnormality of joint mobility	91647	ATPAF2	OMIM:604273
HP:0011729	Abnormality of joint mobility	6390	SDHB	OMIM:619224
HP:0011729	Abnormality of joint mobility	8802	SUCLG1	ORPHA:17
HP:0011729	Abnormality of joint mobility	79796	ALG9	OMIM:263210
HP:0011729	Abnormality of joint mobility	84896	ATAD1	OMIM:618011
HP:0011729	Abnormality of joint mobility	128637	TBC1D20	OMIM:615663
HP:0011729	Abnormality of joint mobility	8425	LTBP4	ORPHA:98896
HP:0011729	Abnormality of joint mobility	7874	USP7	ORPHA:500055
HP:0011729	Abnormality of joint mobility	9851	KIAA0753	OMIM:619479
HP:0011729	Abnormality of joint mobility	35	ACADS	OMIM:201470
HP:0011729	Abnormality of joint mobility	2033	EP300	OMIM:180849
HP:0011729	Abnormality of joint mobility	2517	FUCA1	OMIM:230000
HP:0011729	Abnormality of joint mobility	25782	RAB3GAP2	OMIM:614225
HP:0011729	Abnormality of joint mobility	22931	RAB18	OMIM:614222
HP:0011729	Abnormality of joint mobility	998	CDC42	ORPHA:487796
HP:0011729	Abnormality of joint mobility	4534	MTM1	OMIM:310400
HP:0011729	Abnormality of joint mobility	2571	GAD1	OMIM:619124
HP:0011729	Abnormality of joint mobility	162514	TRPV3	OMIM:614594
HP:0011729	Abnormality of joint mobility	202018	TAPT1	OMIM:616897
HP:0011729	Abnormality of joint mobility	342035	GLDN	OMIM:617194
HP:0011729	Abnormality of joint mobility	2176	FANCC	OMIM:227645
HP:0011729	Abnormality of joint mobility	5538	PPT1	OMIM:256730
HP:0011729	Abnormality of joint mobility	8243	SMC1A	ORPHA:220386
HP:0011729	Abnormality of joint mobility	8815	BANF1	OMIM:614008
HP:0011729	Abnormality of joint mobility	84700	MYO18B	OMIM:616549
HP:0011729	Abnormality of joint mobility	84081	NSRP1	OMIM:620001
HP:0011729	Abnormality of joint mobility	6389	SDHA	OMIM:252011
HP:0011729	Abnormality of joint mobility	2801	GOLGA2	OMIM:620240
HP:0011729	Abnormality of joint mobility	224	ALDH3A2	OMIM:270200
HP:0011729	Abnormality of joint mobility	129285	PPP1R21	OMIM:619383
HP:0011729	Abnormality of joint mobility	84842	HPDL	OMIM:619026
HP:0011729	Abnormality of joint mobility	22978	NT5C2	OMIM:613162
HP:0011729	Abnormality of joint mobility	221692	PHACTR1	OMIM:618298
HP:0011729	Abnormality of joint mobility	1140	CHRNB1	OMIM:616313
HP:0011729	Abnormality of joint mobility	9990	SLC12A6	OMIM:218000
HP:0011729	Abnormality of joint mobility	6786	STIM1	OMIM:160565
HP:0011729	Abnormality of joint mobility	203859	ANO5	ORPHA:206549
HP:0011729	Abnormality of joint mobility	30061	SLC40A1	ORPHA:139491
HP:0011729	Abnormality of joint mobility	23592	LEMD3	ORPHA:166119
HP:0011729	Abnormality of joint mobility	5354	PLP1	ORPHA:99015
HP:0011729	Abnormality of joint mobility	242	ALOX12B	ORPHA:281122
HP:0011729	Abnormality of joint mobility	59344	ALOXE3	ORPHA:281122
HP:0011729	Abnormality of joint mobility	112	ADCY6	ORPHA:2680
HP:0011729	Abnormality of joint mobility	150468	CKAP2L	ORPHA:3255
HP:0011729	Abnormality of joint mobility	10651	MTX2	ORPHA:90153
HP:0011729	Abnormality of joint mobility	8925	HERC1	ORPHA:457359
HP:0011729	Abnormality of joint mobility	3248	HPGD	ORPHA:2796
HP:0011729	Abnormality of joint mobility	3248	HPGD	OMIM:259100
HP:0011729	Abnormality of joint mobility	6578	SLCO2A1	ORPHA:2796
HP:0011729	Abnormality of joint mobility	1499	CTNNB1	ORPHA:873
HP:0011729	Abnormality of joint mobility	324	APC	ORPHA:873
HP:0011729	Abnormality of joint mobility	5251	PHEX	ORPHA:89936
HP:0011729	Abnormality of joint mobility	8239	USP9X	ORPHA:480880
HP:0011729	Abnormality of joint mobility	6329	SCN4A	ORPHA:99735
HP:0011729	Abnormality of joint mobility	7305	TYROBP	ORPHA:2770
HP:0011729	Abnormality of joint mobility	54209	TREM2	ORPHA:2770
HP:0011729	Abnormality of joint mobility	7040	TGFB1	ORPHA:1328
HP:0011729	Abnormality of joint mobility	4598	MVK	ORPHA:343
HP:0011729	Abnormality of joint mobility	56052	ALG1	ORPHA:79327
HP:0011729	Abnormality of joint mobility	4094	MAF	ORPHA:1272
HP:0011729	Abnormality of joint mobility	6598	SMARCB1	ORPHA:99966
HP:0011729	Abnormality of joint mobility	2778	GNAS	ORPHA:2762
HP:0011729	Abnormality of joint mobility	26154	ABCA12	ORPHA:457
HP:0011729	Abnormality of joint mobility	90	ACVR1	ORPHA:337
HP:0011729	Abnormality of joint mobility	5159	PDGFRB	ORPHA:2591
HP:0011729	Abnormality of joint mobility	2990	GUSB	OMIM:253220
HP:0011729	Abnormality of joint mobility	4053	LTBP2	ORPHA:3449
HP:0011729	Abnormality of joint mobility	81794	ADAMTS10	ORPHA:3449
HP:0011729	Abnormality of joint mobility	727857	BHLHA9	ORPHA:3329
HP:0011729	Abnormality of joint mobility	875	CBS	OMIM:236200
HP:0011729	Abnormality of joint mobility	10225	CD96	ORPHA:1308
HP:0011729	Abnormality of joint mobility	9051	PSTPIP1	ORPHA:69126
HP:0011729	Abnormality of joint mobility	4982	TNFRSF11B	ORPHA:1416
HP:0011729	Abnormality of joint mobility	56172	ANKH	ORPHA:1416
HP:0011729	Abnormality of joint mobility	4322	MMP13	OMIM:602111
HP:0011729	Abnormality of joint mobility	4882	NPR2	OMIM:602875
HP:0011729	Abnormality of joint mobility	10262	SF3B4	OMIM:154400
HP:0011729	Abnormality of joint mobility	6424	SFRP4	OMIM:265900
HP:0011729	Abnormality of joint mobility	85301	COL27A1	OMIM:615155
HP:0011729	Abnormality of joint mobility	80207	OPA3	ORPHA:67036
HP:0011729	Abnormality of joint mobility	23233	EXOC6B	ORPHA:93359
HP:0011729	Abnormality of joint mobility	6023	RMRP	OMIM:250250
HP:0011729	Abnormality of joint mobility	6023	RMRP	ORPHA:175
HP:0011729	Abnormality of joint mobility	6023	RMRP	OMIM:607095
HP:0011729	Abnormality of joint mobility	10274	STAG1	ORPHA:502434
HP:0011729	Abnormality of joint mobility	4796	TONSL	ORPHA:93357
HP:0011729	Abnormality of joint mobility	4796	TONSL	OMIM:271510
HP:0011729	Abnormality of joint mobility	10060	ABCC9	OMIM:619719
HP:0011729	Abnormality of joint mobility	55869	HDAC8	OMIM:300882
HP:0011729	Abnormality of joint mobility	100151683	RNU4ATAC	OMIM:226960
HP:0011729	Abnormality of joint mobility	54928	BPNT2	OMIM:614078
HP:0011729	Abnormality of joint mobility	83737	ITCH	OMIM:613385
HP:0011729	Abnormality of joint mobility	1299	COL9A3	OMIM:600969
HP:0011729	Abnormality of joint mobility	2782	GNB1	OMIM:616973
HP:0011729	Abnormality of joint mobility	7030	TFE3	OMIM:301066
HP:0011729	Abnormality of joint mobility	25836	NIPBL	OMIM:122470
HP:0011729	Abnormality of joint mobility	6910	TBX5	OMIM:142900
HP:0011729	Abnormality of joint mobility	633	BGN	OMIM:300106
HP:0011729	Abnormality of joint mobility	83452	RAB33B	OMIM:615222
HP:0011729	Abnormality of joint mobility	55012	PPP2R3C	OMIM:618419
HP:0011729	Abnormality of joint mobility	200734	SPRED2	OMIM:619745
HP:0011729	Abnormality of joint mobility	3930	LBR	OMIM:618019
HP:0011729	Abnormality of joint mobility	54808	DYM	ORPHA:239
HP:0011729	Abnormality of joint mobility	6535	SLC6A8	OMIM:300352
HP:0011729	Abnormality of joint mobility	8367	H4C5	OMIM:619950
HP:0011729	Abnormality of joint mobility	10046	MAMLD1	ORPHA:456328
HP:0011729	Abnormality of joint mobility	23135	KDM6B	OMIM:618505
HP:0011729	Abnormality of joint mobility	7148	TNXB	ORPHA:230839
HP:0011729	Abnormality of joint mobility	7148	TNXB	OMIM:615963
HP:0011729	Abnormality of joint mobility	7148	TNXB	OMIM:606408
HP:0011729	Abnormality of joint mobility	6938	TCF12	OMIM:619718
HP:0011729	Abnormality of joint mobility	1788	DNMT3A	ORPHA:404443
HP:0011729	Abnormality of joint mobility	9578	CDC42BPB	OMIM:619841
HP:0011729	Abnormality of joint mobility	64412	GZF1	OMIM:617662
HP:0011729	Abnormality of joint mobility	283489	CHAMP1	OMIM:616579
HP:0011729	Abnormality of joint mobility	7125	TNNC2	OMIM:620161
HP:0011729	Abnormality of joint mobility	9739	SETD1A	OMIM:619056
HP:0011729	Abnormality of joint mobility	815	CAMK2A	OMIM:617798
HP:0011729	Abnormality of joint mobility	90993	CREB3L1	OMIM:616229
HP:0011729	Abnormality of joint mobility	5238	PGM3	OMIM:615816
HP:0011729	Abnormality of joint mobility	157680	VPS13B	OMIM:216550
HP:0011729	Abnormality of joint mobility	23116	TOGARAM1	OMIM:619185
HP:0011729	Abnormality of joint mobility	6872	TAF1	ORPHA:480907
HP:0011729	Abnormality of joint mobility	6872	TAF1	OMIM:300966
HP:0011729	Abnormality of joint mobility	84823	LMNB2	OMIM:619180
HP:0011729	Abnormality of joint mobility	4763	NF1	ORPHA:363700
HP:0011729	Abnormality of joint mobility	11107	PRDM5	OMIM:614170
HP:0011729	Abnormality of joint mobility	57178	ZMIZ1	OMIM:618659
HP:0011729	Abnormality of joint mobility	23545	ATP6V0A2	OMIM:278250
HP:0011729	Abnormality of joint mobility	23545	ATP6V0A2	OMIM:219200
HP:0011729	Abnormality of joint mobility	649	BMP1	OMIM:614856
HP:0011729	Abnormality of joint mobility	26057	ANKRD17	OMIM:619504
HP:0011729	Abnormality of joint mobility	526	ATP6V1B2	ORPHA:3473
HP:0011729	Abnormality of joint mobility	165	AEBP1	ORPHA:536532
HP:0011729	Abnormality of joint mobility	165	AEBP1	OMIM:618000
HP:0011729	Abnormality of joint mobility	375	ARF1	ORPHA:98892
HP:0011729	Abnormality of joint mobility	4131	MAP1B	ORPHA:98892
HP:0011729	Abnormality of joint mobility	160418	TMTC3	ORPHA:98892
HP:0011729	Abnormality of joint mobility	10564	ARFGEF2	ORPHA:98892
HP:0011729	Abnormality of joint mobility	5518	PPP2R1A	OMIM:616362
HP:0011729	Abnormality of joint mobility	5518	PPP2R1A	ORPHA:457284
HP:0011729	Abnormality of joint mobility	3572	IL6ST	OMIM:619752
HP:0011729	Abnormality of joint mobility	7862	BRPF1	OMIM:617333
HP:0011729	Abnormality of joint mobility	22859	ADGRL1	OMIM:620065
HP:0011729	Abnormality of joint mobility	283209	PGM2L1	OMIM:620191
HP:0011729	Abnormality of joint mobility	9321	TRIP11	OMIM:184260
HP:0011729	Abnormality of joint mobility	7750	ZMYM2	OMIM:619522
HP:0011729	Abnormality of joint mobility	53335	BCL11A	OMIM:617101
HP:0011729	Abnormality of joint mobility	200424	TET3	OMIM:618798
HP:0011729	Abnormality of joint mobility	540	ATP7B	OMIM:277900
HP:0011729	Abnormality of joint mobility	23314	SATB2	ORPHA:576283
HP:0011729	Abnormality of joint mobility	11117	EMILIN1	OMIM:620080
HP:0011729	Abnormality of joint mobility	79989	IFT56	OMIM:619534
HP:0011729	Abnormality of joint mobility	8565	YARS1	OMIM:619418
HP:0011729	Abnormality of joint mobility	84168	ANTXR1	OMIM:230740
HP:0011729	Abnormality of joint mobility	8621	CDK13	OMIM:617360
HP:0011729	Abnormality of joint mobility	22907	DHX30	OMIM:617804
HP:0011729	Abnormality of joint mobility	9949	AMMECR1	OMIM:300990
HP:0011729	Abnormality of joint mobility	56896	DPYSL5	OMIM:619435
HP:0011729	Abnormality of joint mobility	64116	SLC39A8	OMIM:616721
HP:0011729	Abnormality of joint mobility	79912	PYROXD1	OMIM:617258
HP:0011729	Abnormality of joint mobility	6418	SET	OMIM:618106
HP:0011729	Abnormality of joint mobility	85358	SHANK3	OMIM:606232
HP:0011729	Abnormality of joint mobility	23028	KDM1A	OMIM:616728
HP:0011729	Abnormality of joint mobility	26115	TANC2	OMIM:618906
HP:0011729	Abnormality of joint mobility	128869	PIGU	OMIM:618590
HP:0011729	Abnormality of joint mobility	57551	TAOK1	OMIM:619575
HP:0011729	Abnormality of joint mobility	537	ATP6AP1	OMIM:300972
HP:0011729	Abnormality of joint mobility	1621	DBH	OMIM:223360
HP:0011729	Abnormality of joint mobility	55033	FKBP14	ORPHA:300179
HP:0011729	Abnormality of joint mobility	84068	SLC10A7	OMIM:618363
HP:0011729	Abnormality of joint mobility	83987	CCDC8	OMIM:614205
HP:0011729	Abnormality of joint mobility	9820	CUL7	OMIM:273750
HP:0011729	Abnormality of joint mobility	7703	PCGF2	OMIM:618371
HP:0011729	Abnormality of joint mobility	1822	ATN1	OMIM:618494
HP:0011729	Abnormality of joint mobility	25	ABL1	OMIM:617602
HP:0011729	Abnormality of joint mobility	6304	SATB1	OMIM:619229
HP:0011729	Abnormality of joint mobility	716	C1S	OMIM:617174
HP:0011729	Abnormality of joint mobility	134218	DNAJC21	OMIM:617052
HP:0011729	Abnormality of joint mobility	51604	PIGT	ORPHA:369837
HP:0011729	Abnormality of joint mobility	80781	COL18A1	OMIM:267750
HP:0011729	Abnormality of joint mobility	1457	CSNK2A1	OMIM:617062
HP:0011729	Abnormality of joint mobility	23112	TNRC6B	OMIM:619243
HP:0011729	Abnormality of joint mobility	10220	GDF11	OMIM:619122
HP:0011729	Abnormality of joint mobility	5500	PPP1CB	OMIM:617506
HP:0011729	Abnormality of joint mobility	84905	ZNF341	OMIM:618282
HP:0011729	Abnormality of joint mobility	1290	COL5A2	OMIM:130010
HP:0011729	Abnormality of joint mobility	11014	KDELR2	OMIM:619131
HP:0011729	Abnormality of joint mobility	55023	PHIP	OMIM:617991
HP:0011729	Abnormality of joint mobility	2193	FARSA	OMIM:619013
HP:0011729	Abnormality of joint mobility	1984	EIF5A	OMIM:619376
HP:0011729	Abnormality of joint mobility	51780	KDM3B	OMIM:618846
HP:0011729	Abnormality of joint mobility	10020	GNE	ORPHA:3166
HP:0011729	Abnormality of joint mobility	8139	GAN	ORPHA:643
HP:0011729	Abnormality of joint mobility	11011	TLK2	OMIM:618050
HP:0011729	Abnormality of joint mobility	26229	B3GAT3	OMIM:245600
HP:0011729	Abnormality of joint mobility	11141	IL1RAPL1	OMIM:300143
HP:0011729	Abnormality of joint mobility	23309	SIN3B	ORPHA:500166
HP:0011729	Abnormality of joint mobility	1806	DPYD	ORPHA:293948
HP:0011729	Abnormality of joint mobility	341208	HEPHL1	OMIM:261990
HP:0011729	Abnormality of joint mobility	7471	WNT1	OMIM:615220
HP:0011729	Abnormality of joint mobility	57728	WDR19	OMIM:614378
HP:0011729	Abnormality of joint mobility	25871	NEPRO	OMIM:618853
HP:0011729	Abnormality of joint mobility	8085	KMT2D	OMIM:147920
HP:0011729	Abnormality of joint mobility	3106	HLA-B	ORPHA:397
HP:0011729	Abnormality of joint mobility	3106	HLA-B	ORPHA:29207
HP:0011729	Abnormality of joint mobility	8974	P4HA2	ORPHA:397
HP:0011729	Abnormality of joint mobility	54507	ADAMTSL4	ORPHA:1885
HP:0011729	Abnormality of joint mobility	2314	FLII	ORPHA:819
HP:0011729	Abnormality of joint mobility	23096	IQSEC2	ORPHA:819
HP:0011729	Abnormality of joint mobility	84572	GNPTG	OMIM:252605
HP:0011729	Abnormality of joint mobility	3418	IDH2	ORPHA:296
HP:0011729	Abnormality of joint mobility	170691	ADAMTS17	OMIM:613195
HP:0011729	Abnormality of joint mobility	340061	STING1	OMIM:615934
HP:0011729	Abnormality of joint mobility	4054	LTBP3	ORPHA:969
HP:0011729	Abnormality of joint mobility	222663	SCUBE3	OMIM:619184
HP:0011729	Abnormality of joint mobility	112476	PRRT2	ORPHA:98810
HP:0011729	Abnormality of joint mobility	25953	PNKD	ORPHA:98810
HP:0011729	Abnormality of joint mobility	4318	MMP9	ORPHA:1040
HP:0011729	Abnormality of joint mobility	493856	CISD2	ORPHA:3463
HP:0011729	Abnormality of joint mobility	7466	WFS1	ORPHA:3463
HP:0011729	Abnormality of joint mobility	7486	WRN	ORPHA:902
HP:0011729	Abnormality of joint mobility	285362	SUMF1	ORPHA:585
HP:0011729	Abnormality of joint mobility	9555	MACROH2A1	ORPHA:1275
HP:0011729	Abnormality of joint mobility	5307	PITX1	ORPHA:1275
HP:0011729	Abnormality of joint mobility	6583	SLC22A4	OMIM:180300
HP:0011729	Abnormality of joint mobility	4261	CIITA	OMIM:180300
HP:0011729	Abnormality of joint mobility	51744	CD244	OMIM:180300
HP:0011729	Abnormality of joint mobility	4795	NFKBIL1	OMIM:180300
HP:0011729	Abnormality of joint mobility	3586	IL10	OMIM:180300
HP:0011729	Abnormality of joint mobility	2010	EMD	ORPHA:98863
HP:0011729	Abnormality of joint mobility	6473	SHOX	ORPHA:240
HP:0011729	Abnormality of joint mobility	57724	EPG5	ORPHA:1493
HP:0011729	Abnormality of joint mobility	79188	TMEM43	ORPHA:98853
HP:0011729	Abnormality of joint mobility	23224	SYNE2	ORPHA:98853
HP:0011729	Abnormality of joint mobility	6448	SGSH	OMIM:252900
HP:0011729	Abnormality of joint mobility	443	ASPA	ORPHA:314911
HP:0011729	Abnormality of joint mobility	2743	GLRB	ORPHA:3197
HP:0011729	Abnormality of joint mobility	2741	GLRA1	ORPHA:3197
HP:0011729	Abnormality of joint mobility	10243	GPHN	ORPHA:3197
HP:0011729	Abnormality of joint mobility	9152	SLC6A5	ORPHA:3197
HP:0011729	Abnormality of joint mobility	8883	NAE1	OMIM:620210
HP:0011729	Abnormality of joint mobility	23476	BRD4	ORPHA:199
HP:0011729	Abnormality of joint mobility	9126	SMC3	ORPHA:199
HP:0011729	Abnormality of joint mobility	5885	RAD21	ORPHA:199
HP:0011729	Abnormality of joint mobility	4659	PPP1R12A	OMIM:618820
HP:0011729	Abnormality of joint mobility	207	AKT1	ORPHA:744
HP:0011729	Abnormality of joint mobility	54676	GTPBP2	OMIM:617988
HP:0011729	Abnormality of joint mobility	2799	GNS	OMIM:252940
HP:0011729	Abnormality of joint mobility	50515	CHST11	OMIM:618167
HP:0011729	Abnormality of joint mobility	3889	KRT83	OMIM:617756
HP:0011729	Abnormality of joint mobility	3664	IRF6	ORPHA:1300
HP:0011729	Abnormality of joint mobility	138050	HGSNAT	OMIM:252930
HP:0011729	Abnormality of joint mobility	71	ACTG1	ORPHA:2995
HP:0011729	Abnormality of joint mobility	60	ACTB	ORPHA:2995
HP:0011729	Abnormality of joint mobility	3636	INPPL1	ORPHA:2746
HP:0011729	Abnormality of joint mobility	5130	PCYT1A	OMIM:608940
HP:0011729	Abnormality of joint mobility	54829	ASPN	OMIM:607850
HP:0011729	Abnormality of joint mobility	4669	NAGLU	OMIM:252920
HP:0011729	Abnormality of joint mobility	8036	SHOC2	OMIM:607721
HP:0011729	Abnormality of joint mobility	3376	IARS1	OMIM:617093
HP:0011729	Abnormality of joint mobility	3376	IARS1	ORPHA:541423
HP:0011729	Abnormality of joint mobility	23394	ADNP	ORPHA:404448
HP:0011729	Abnormality of joint mobility	23394	ADNP	OMIM:615873
HP:0011729	Abnormality of joint mobility	5728	PTEN	OMIM:605309
HP:0011729	Abnormality of joint mobility	9853	RUSC2	OMIM:617773
HP:0011729	Abnormality of joint mobility	57539	WDR35	OMIM:613610
HP:0011729	Abnormality of joint mobility	347734	SLC35B2	OMIM:620269
HP:0011729	Abnormality of joint mobility	23126	POGZ	ORPHA:468678
HP:0011729	Abnormality of joint mobility	23126	POGZ	OMIM:616364
HP:0011729	Abnormality of joint mobility	3190	HNRNPK	ORPHA:453504
HP:0011729	Abnormality of joint mobility	3190	HNRNPK	ORPHA:352665
HP:0011729	Abnormality of joint mobility	4125	MAN2B1	ORPHA:309282
HP:0011729	Abnormality of joint mobility	10743	RAI1	ORPHA:477817
HP:0011729	Abnormality of joint mobility	197131	UBR1	OMIM:243800
HP:0011729	Abnormality of joint mobility	3021	H3-3B	OMIM:619721
HP:0011729	Abnormality of joint mobility	5176	SERPINF1	OMIM:613982
HP:0011729	Abnormality of joint mobility	27245	AHDC1	ORPHA:412069
HP:0011729	Abnormality of joint mobility	7532	YWHAG	OMIM:617665
HP:0011729	Abnormality of joint mobility	28960	DCPS	OMIM:616459
HP:0011729	Abnormality of joint mobility	55780	ERMARD	ORPHA:75857
HP:0011729	Abnormality of joint mobility	64175	P3H1	OMIM:610915
HP:0011729	Abnormality of joint mobility	54453	RIN2	OMIM:613075
HP:0011729	Abnormality of joint mobility	4853	NOTCH2	OMIM:102500
HP:0011729	Abnormality of joint mobility	5015	OTX2	OMIM:610125
HP:0011729	Abnormality of joint mobility	55858	TMEM165	OMIM:614727
HP:0011729	Abnormality of joint mobility	10484	SEC23A	OMIM:607812
HP:0011729	Abnormality of joint mobility	2720	GLB1	OMIM:253010
HP:0011729	Abnormality of joint mobility	9731	CEP104	OMIM:619988
HP:0011729	Abnormality of joint mobility	25942	SIN3A	OMIM:613406
HP:0011729	Abnormality of joint mobility	25942	SIN3A	ORPHA:94065
HP:0011729	Abnormality of joint mobility	8642	DCHS1	OMIM:601390
HP:0011729	Abnormality of joint mobility	10522	DEAF1	OMIM:615828
HP:0011729	Abnormality of joint mobility	54914	FOCAD	OMIM:619991
HP:0011729	Abnormality of joint mobility	2332	FMR1	ORPHA:908
HP:0011729	Abnormality of joint mobility	2332	FMR1	ORPHA:449291
HP:0011729	Abnormality of joint mobility	2332	FMR1	OMIM:300624
HP:0011729	Abnormality of joint mobility	5828	PEX2	OMIM:614867
HP:0011729	Abnormality of joint mobility	6804	STX1A	ORPHA:904
HP:0011729	Abnormality of joint mobility	7461	CLIP2	ORPHA:904
HP:0011729	Abnormality of joint mobility	84277	DNAJC30	ORPHA:904
HP:0011729	Abnormality of joint mobility	8468	FKBP6	ORPHA:904
HP:0011729	Abnormality of joint mobility	5982	RFC2	ORPHA:904
HP:0011729	Abnormality of joint mobility	2969	GTF2I	ORPHA:904
HP:0011729	Abnormality of joint mobility	3984	LIMK1	ORPHA:904
HP:0011729	Abnormality of joint mobility	9569	GTF2IRD1	ORPHA:904
HP:0011729	Abnormality of joint mobility	155382	VPS37D	ORPHA:904
HP:0011729	Abnormality of joint mobility	155368	METTL27	ORPHA:904
HP:0011729	Abnormality of joint mobility	114049	BUD23	ORPHA:904
HP:0011729	Abnormality of joint mobility	7458	EIF4H	ORPHA:904
HP:0011729	Abnormality of joint mobility	84163	GTF2IRD2	ORPHA:904
HP:0011729	Abnormality of joint mobility	9275	BCL7B	ORPHA:904
HP:0011729	Abnormality of joint mobility	26608	TBL2	ORPHA:904
HP:0011729	Abnormality of joint mobility	653361	NCF1	ORPHA:904
HP:0011729	Abnormality of joint mobility	135886	TMEM270	ORPHA:904
HP:0011729	Abnormality of joint mobility	9031	BAZ1B	ORPHA:904
HP:0011729	Abnormality of joint mobility	10056	FARSB	OMIM:613658
HP:0011729	Abnormality of joint mobility	57459	GATAD2B	ORPHA:363686
HP:0011729	Abnormality of joint mobility	5605	MAP2K2	OMIM:615280
HP:0011729	Abnormality of joint mobility	715	C1R	OMIM:130080
HP:0011729	Abnormality of joint mobility	1742	DLG4	OMIM:618793
HP:0011729	Abnormality of joint mobility	3187	HNRNPH1	OMIM:620083
HP:0011729	Abnormality of joint mobility	5295	PIK3R1	OMIM:269880
HP:0011729	Abnormality of joint mobility	3835	KIF22	OMIM:603546
HP:0011729	Abnormality of joint mobility	3835	KIF22	ORPHA:93360
HP:0011729	Abnormality of joint mobility	54941	RNF125	OMIM:616260
HP:0011729	Abnormality of joint mobility	55084	SOBP	OMIM:613671
HP:0011729	Abnormality of joint mobility	10516	FBLN5	ORPHA:90348
HP:0011729	Abnormality of joint mobility	10516	FBLN5	ORPHA:90349
HP:0011729	Abnormality of joint mobility	10516	FBLN5	OMIM:219100
HP:0011729	Abnormality of joint mobility	5832	ALDH18A1	ORPHA:90348
HP:0011729	Abnormality of joint mobility	5832	ALDH18A1	OMIM:616603
HP:0011729	Abnormality of joint mobility	4052	LTBP1	ORPHA:90349
HP:0011729	Abnormality of joint mobility	4052	LTBP1	OMIM:619451
HP:0011729	Abnormality of joint mobility	30008	EFEMP2	ORPHA:90349
HP:0011729	Abnormality of joint mobility	1107	CHD3	OMIM:618205
HP:0011729	Abnormality of joint mobility	4883	NPR3	OMIM:619543
HP:0011729	Abnormality of joint mobility	112752	IFT43	OMIM:614099
HP:0011729	Abnormality of joint mobility	93587	TRMT10A	OMIM:616033
HP:0011729	Abnormality of joint mobility	93587	TRMT10A	ORPHA:391408
HP:0011729	Abnormality of joint mobility	2702	GJA5	OMIM:612474
HP:0011729	Abnormality of joint mobility	2703	GJA8	OMIM:612474
HP:0011729	Abnormality of joint mobility	867	CBL	OMIM:613563
HP:0011729	Abnormality of joint mobility	1642	DDB1	OMIM:619426
HP:0011729	Abnormality of joint mobility	164	AP1G1	OMIM:619548
HP:0011729	Abnormality of joint mobility	81603	TRIM8	OMIM:619428
HP:0011729	Abnormality of joint mobility	3720	JARID2	OMIM:620098
HP:0011729	Abnormality of joint mobility	5979	RET	OMIM:162300
HP:0011729	Abnormality of joint mobility	65992	DDRGK1	OMIM:602557
HP:0011729	Abnormality of joint mobility	65992	DDRGK1	ORPHA:93352
HP:0011729	Abnormality of joint mobility	5351	PLOD1	OMIM:225400
HP:0011729	Abnormality of joint mobility	84627	ZNF469	OMIM:229200
HP:0011729	Abnormality of joint mobility	57102	C12orf4	OMIM:618221
HP:0011729	Abnormality of joint mobility	92335	STRADA	ORPHA:500533
HP:0011729	Abnormality of joint mobility	92335	STRADA	OMIM:611087
HP:0011729	Abnormality of joint mobility	79650	USB1	OMIM:604173
HP:0011729	Abnormality of joint mobility	10847	SRCAP	OMIM:136140
HP:0011729	Abnormality of joint mobility	2623	GATA1	OMIM:190685
HP:0011729	Abnormality of joint mobility	29998	BICRA	OMIM:619325
HP:0011729	Abnormality of joint mobility	1654	DDX3X	ORPHA:457260
HP:0011729	Abnormality of joint mobility	176	ACAN	OMIM:612813
HP:0011729	Abnormality of joint mobility	176	ACAN	ORPHA:171866
HP:0011729	Abnormality of joint mobility	26224	FBXL3	OMIM:606220
HP:0011729	Abnormality of joint mobility	4141	MARS1	OMIM:619692
HP:0011729	Abnormality of joint mobility	55603	TENT5A	OMIM:617952
HP:0011729	Abnormality of joint mobility	6597	SMARCA4	ORPHA:1465
HP:0011729	Abnormality of joint mobility	6659	SOX4	ORPHA:1465
HP:0011729	Abnormality of joint mobility	8289	ARID1A	ORPHA:1465
HP:0011729	Abnormality of joint mobility	5977	DPF2	ORPHA:1465
HP:0011729	Abnormality of joint mobility	6601	SMARCC2	ORPHA:1465
HP:0011729	Abnormality of joint mobility	6602	SMARCD1	ORPHA:1465
HP:0011729	Abnormality of joint mobility	196528	ARID2	ORPHA:1465
HP:0011729	Abnormality of joint mobility	6605	SMARCE1	ORPHA:1465
HP:0011729	Abnormality of joint mobility	6664	SOX11	ORPHA:1465
HP:0011729	Abnormality of joint mobility	2019	EN1	OMIM:619218
HP:0011729	Abnormality of joint mobility	6678	SPARC	OMIM:616507
HP:0011729	Abnormality of joint mobility	3759	KCNJ2	OMIM:170390
HP:0011729	Abnormality of joint mobility	3759	KCNJ2	ORPHA:37553
HP:0011729	Abnormality of joint mobility	55764	IFT122	OMIM:218330
HP:0011729	Abnormality of joint mobility	444	ASPH	OMIM:601552
HP:0011729	Abnormality of joint mobility	80324	PUS1	OMIM:600462
HP:0011729	Abnormality of joint mobility	9509	ADAMTS2	OMIM:225410
HP:0011729	Abnormality of joint mobility	372	ARCN1	OMIM:617164
HP:0011729	Abnormality of joint mobility	79576	NKAP	OMIM:301039
HP:0011729	Abnormality of joint mobility	4015	LOX	OMIM:617168
HP:0011729	Abnormality of joint mobility	7403	KDM6A	OMIM:300867
HP:0011729	Abnormality of joint mobility	3188	HNRNPH2	OMIM:300986
HP:0011729	Abnormality of joint mobility	4041	LRP5	ORPHA:2788
HP:0011729	Abnormality of joint mobility	5144	PDE4D	ORPHA:439822
HP:0011729	Abnormality of joint mobility	175	AGA	OMIM:208400
HP:0011729	Abnormality of joint mobility	79718	TBL1XR1	ORPHA:487825
HP:0011729	Abnormality of joint mobility	84265	POLR3GL	OMIM:619234
HP:0011729	Abnormality of joint mobility	57003	CCDC47	OMIM:618268
HP:0011729	Abnormality of joint mobility	57187	THOC2	OMIM:300957
HP:0011729	Abnormality of joint mobility	57061	HYMAI	ORPHA:96191
HP:0011729	Abnormality of joint mobility	5325	PLAGL1	ORPHA:96191
HP:0011729	Abnormality of joint mobility	2892	GRIA3	ORPHA:364028
HP:0011729	Abnormality of joint mobility	10367	MICU1	OMIM:615673
HP:0011729	Abnormality of joint mobility	145173	B3GLCT	OMIM:261540
HP:0011729	Abnormality of joint mobility	6711	SPTBN1	OMIM:619475
HP:0011729	Abnormality of joint mobility	2588	GALNS	OMIM:253000
HP:0011729	Abnormality of joint mobility	92002	CCNQ	OMIM:300707
HP:0011729	Abnormality of joint mobility	4361	MRE11	ORPHA:251347
HP:0011729	Abnormality of joint mobility	9894	TELO2	ORPHA:488642
HP:0011729	Abnormality of joint mobility	4841	NONO	OMIM:300967
HP:0011729	Abnormality of joint mobility	4841	NONO	ORPHA:466791
HP:0011729	Abnormality of joint mobility	84919	PPP1R15B	ORPHA:391408
HP:0011729	Abnormality of joint mobility	5879	RAC1	OMIM:617751
HP:0011729	Abnormality of joint mobility	5879	RAC1	ORPHA:500159
HP:0011729	Abnormality of joint mobility	54187	NANS	OMIM:610442
HP:0011729	Abnormality of joint mobility	5076	PAX2	OMIM:120330
HP:0011729	Abnormality of joint mobility	1513	CTSK	ORPHA:763
HP:0011729	Abnormality of joint mobility	529	ATP6V1E1	OMIM:617402
HP:0011729	Abnormality of joint mobility	7042	TGFB2	OMIM:614816
HP:0011729	Abnormality of joint mobility	871	SERPINH1	OMIM:613848
HP:0011729	Abnormality of joint mobility	3762	KCNJ5	ORPHA:37553
HP:0011729	Abnormality of joint mobility	6299	SALL1	OMIM:107480
HP:0011729	Abnormality of joint mobility	54888	NSUN2	OMIM:611091
HP:0011729	Abnormality of joint mobility	291	SLC25A4	OMIM:615418
HP:0011729	Abnormality of joint mobility	4556	MT-TE	ORPHA:2596
HP:0011729	Abnormality of joint mobility	2705	GJB1	OMIM:302800
HP:0011729	Abnormality of joint mobility	26090	ABHD12	OMIM:612674
HP:0011729	Abnormality of joint mobility	729920	CRPPA	ORPHA:370980
HP:0011729	Abnormality of joint mobility	1832	DSP	ORPHA:158687
HP:0011729	Abnormality of joint mobility	3728	JUP	ORPHA:158687
HP:0011729	Abnormality of joint mobility	91179	SCARF2	OMIM:600920
HP:0011729	Abnormality of joint mobility	84295	PHF6	ORPHA:127
HP:0011729	Abnormality of joint mobility	2273	FHL1	OMIM:300280
HP:0011729	Abnormality of joint mobility	4313	MMP2	OMIM:259600
HP:0011729	Abnormality of joint mobility	9179	AP4M1	ORPHA:280763
HP:0011729	Abnormality of joint mobility	55784	MCTP2	ORPHA:1596
HP:0011729	Abnormality of joint mobility	55154	MSTO1	ORPHA:502423
HP:0011729	Abnormality of joint mobility	777	CACNA1E	OMIM:618285
HP:0011729	Abnormality of joint mobility	56203	LMOD3	OMIM:616165
HP:0011729	Abnormality of joint mobility	100128927	ZBTB42	OMIM:616248
HP:0011729	Abnormality of joint mobility	283989	TSEN54	OMIM:277470
HP:0011729	Abnormality of joint mobility	283989	TSEN54	OMIM:225753
HP:0011729	Abnormality of joint mobility	57211	ADGRG6	OMIM:616503
HP:0011729	Abnormality of joint mobility	4703	NEB	OMIM:256030
HP:0011729	Abnormality of joint mobility	246329	STAC3	ORPHA:168572
HP:0011729	Abnormality of joint mobility	4620	MYH2	OMIM:605637
HP:0011729	Abnormality of joint mobility	171023	ASXL1	ORPHA:97297
HP:0011729	Abnormality of joint mobility	26053	AUTS2	ORPHA:352490
HP:0011729	Abnormality of joint mobility	57222	ERGIC1	OMIM:208100
HP:0011729	Abnormality of joint mobility	1785	DNM2	OMIM:615368
HP:0011729	Abnormality of joint mobility	5081	PAX7	OMIM:618578
HP:0011729	Abnormality of joint mobility	7443	VRK1	OMIM:607596
HP:0011729	Abnormality of joint mobility	26153	KIF26A	OMIM:620156
HP:0011729	Abnormality of joint mobility	1718	DHCR24	OMIM:602398
HP:0011729	Abnormality of joint mobility	2673	GFPT1	OMIM:608931
HP:0011729	Abnormality of joint mobility	1145	CHRNE	OMIM:608931
HP:0011729	Abnormality of joint mobility	5339	PLEC	OMIM:226730
HP:0011729	Abnormality of joint mobility	2632	GBE1	OMIM:232500
HP:0011729	Abnormality of joint mobility	55627	SMPD4	OMIM:618622
HP:0011729	Abnormality of joint mobility	2629	GBA1	OMIM:608013
HP:0011729	Abnormality of joint mobility	2629	GBA1	ORPHA:85212
HP:0011729	Abnormality of joint mobility	55593	OTUD5	OMIM:301056
HP:0011729	Abnormality of joint mobility	58	ACTA1	ORPHA:171436
HP:0011729	Abnormality of joint mobility	58	ACTA1	ORPHA:171433
HP:0011729	Abnormality of joint mobility	58	ACTA1	ORPHA:171430
HP:0011729	Abnormality of joint mobility	58	ACTA1	OMIM:161800
HP:0011729	Abnormality of joint mobility	58	ACTA1	ORPHA:171439
HP:0011729	Abnormality of joint mobility	10324	KLHL41	ORPHA:171436
HP:0011729	Abnormality of joint mobility	10324	KLHL41	ORPHA:171433
HP:0011729	Abnormality of joint mobility	10324	KLHL41	ORPHA:171430
HP:0011729	Abnormality of joint mobility	10324	KLHL41	OMIM:615731
HP:0011729	Abnormality of joint mobility	10324	KLHL41	ORPHA:171439
HP:0011729	Abnormality of joint mobility	1073	CFL2	ORPHA:171436
HP:0011729	Abnormality of joint mobility	60482	SLC5A7	OMIM:617143
HP:0011729	Abnormality of joint mobility	60482	SLC5A7	ORPHA:98914
HP:0011729	Abnormality of joint mobility	6536	SLC6A9	OMIM:617301
HP:0011729	Abnormality of joint mobility	131377	KLHL40	ORPHA:171430
HP:0011729	Abnormality of joint mobility	84162	BLTP1	OMIM:617822
HP:0011729	Abnormality of joint mobility	23729	SHPK	ORPHA:440713
HP:0011729	Abnormality of joint mobility	79158	GNPTAB	OMIM:252500
HP:0011729	Abnormality of joint mobility	2733	GLE1	OMIM:253310
HP:0011729	Abnormality of joint mobility	2733	GLE1	OMIM:611890
HP:0011729	Abnormality of joint mobility	56975	FAM20C	OMIM:259775
HP:0011729	Abnormality of joint mobility	6904	TBCD	ORPHA:496641
HP:0011729	Abnormality of joint mobility	6904	TBCD	OMIM:617193
HP:0011729	Abnormality of joint mobility	5980	REV3L	ORPHA:570
HP:0011729	Abnormality of joint mobility	23129	PLXND1	ORPHA:570
HP:0011729	Abnormality of joint mobility	63925	ZNF335	OMIM:615095
HP:0011729	Abnormality of joint mobility	1020	CDK5	OMIM:616342
HP:0011729	Abnormality of joint mobility	23345	SYNE1	OMIM:618484
HP:0011729	Abnormality of joint mobility	23345	SYNE1	ORPHA:319332
HP:0011729	Abnormality of joint mobility	113189	CHST14	ORPHA:2953
HP:0011729	Abnormality of joint mobility	113189	CHST14	OMIM:601776
HP:0011729	Abnormality of joint mobility	29940	DSE	ORPHA:2953
HP:0011729	Abnormality of joint mobility	5119	CHMP1A	OMIM:614961
HP:0011729	Abnormality of joint mobility	91869	RFT1	ORPHA:244310
HP:0011729	Abnormality of joint mobility	9326	ZNHIT3	ORPHA:2836
HP:0011729	Abnormality of joint mobility	547	KIF1A	ORPHA:2836
HP:0011729	Abnormality of joint mobility	6663	SOX10	ORPHA:163746
HP:0011729	Abnormality of joint mobility	6663	SOX10	OMIM:609136
HP:0011729	Abnormality of joint mobility	55681	SCYL2	OMIM:618766
HP:0011729	Abnormality of joint mobility	51008	ASCC1	OMIM:616867
HP:0011729	Abnormality of joint mobility	26276	VPS33B	OMIM:208085
HP:0011729	Abnormality of joint mobility	57498	KIDINS220	OMIM:619501
HP:0011729	Abnormality of joint mobility	63894	VIPAS39	OMIM:613404
HP:0011729	Abnormality of joint mobility	2065	ERBB3	OMIM:243180
HP:0011729	Abnormality of joint mobility	2065	ERBB3	OMIM:607598
HP:0011729	Abnormality of joint mobility	54551	MAGEL2	OMIM:615547
HP:0011729	Abnormality of joint mobility	23265	EXOC7	OMIM:619072
HP:0011729	Abnormality of joint mobility	1182	CLCN3	OMIM:619512
HP:0011729	Abnormality of joint mobility	5530	PPP3CA	OMIM:618265
HP:0011729	Abnormality of joint mobility	1103	CHAT	OMIM:254210
HP:0011729	Abnormality of joint mobility	1103	CHAT	ORPHA:98914
HP:0011729	Abnormality of joint mobility	11340	EXOSC8	ORPHA:2254
HP:0011729	Abnormality of joint mobility	23287	AGTPBP1	ORPHA:2254
HP:0011729	Abnormality of joint mobility	51010	EXOSC3	ORPHA:2254
HP:0011729	Abnormality of joint mobility	91137	SLC25A46	ORPHA:2254
HP:0011729	Abnormality of joint mobility	5352	PLOD2	ORPHA:2771
HP:0011729	Abnormality of joint mobility	60681	FKBP10	ORPHA:2771
HP:0011729	Abnormality of joint mobility	55165	CEP55	OMIM:236500
HP:0011729	Abnormality of joint mobility	3800	KIF5C	OMIM:615282
HP:0011729	Abnormality of joint mobility	5297	PI4KA	OMIM:616531
HP:0011729	Abnormality of joint mobility	9928	KIF14	OMIM:616258
HP:0011729	Abnormality of joint mobility	163175	LGI4	OMIM:617468
HP:0011729	Abnormality of joint mobility	4649	MYO9A	ORPHA:98914
HP:0011729	Abnormality of joint mobility	1305	COL13A1	ORPHA:98914
HP:0011729	Abnormality of joint mobility	6576	SLC25A1	ORPHA:98914
HP:0011729	Abnormality of joint mobility	6843	VAMP1	ORPHA:98914
HP:0011729	Abnormality of joint mobility	375790	AGRN	ORPHA:98914
HP:0011729	Abnormality of joint mobility	127833	SYT2	ORPHA:98914
HP:0011729	Abnormality of joint mobility	6616	SNAP25	ORPHA:98914
HP:0011729	Abnormality of joint mobility	3911	LAMA5	OMIM:620076
HP:0011729	Abnormality of joint mobility	4626	MYH8	OMIM:158300
HP:0011729	Abnormality of joint mobility	9319	TRIP13	OMIM:617598
HP:0011729	Abnormality of joint mobility	10479	SLC9A6	ORPHA:85278
HP:0011729	Abnormality of joint mobility	200205	IBA57	OMIM:615330
HP:0011729	Abnormality of joint mobility	84665	MYPN	ORPHA:171439
HP:0011729	Abnormality of joint mobility	390594	KBTBD13	ORPHA:171439
HP:0011729	Abnormality of joint mobility	10195	ALG3	ORPHA:79321
HP:0011729	Abnormality of joint mobility	10195	ALG3	OMIM:601110
HP:0011729	Abnormality of joint mobility	91574	MTRFR	ORPHA:320375
HP:0011729	Abnormality of joint mobility	54101	RIPK4	OMIM:263650
HP:0011729	Abnormality of joint mobility	8216	LZTR1	OMIM:605275
HP:0011729	Abnormality of joint mobility	57190	SELENON	ORPHA:324604
HP:0011729	Abnormality of joint mobility	4625	MYH7	ORPHA:324604
HP:0011729	Abnormality of joint mobility	7273	TTN	ORPHA:324604
HP:0011729	Abnormality of joint mobility	6261	RYR1	ORPHA:597
HP:0011729	Abnormality of joint mobility	6261	RYR1	ORPHA:424107
HP:0011729	Abnormality of joint mobility	23769	FLRT1	ORPHA:320406
HP:0011729	Abnormality of joint mobility	64837	KLC2	ORPHA:320406
HP:0011729	Abnormality of joint mobility	5393	EXOSC9	OMIM:618065
HP:0011729	Abnormality of joint mobility	94005	PIGS	OMIM:618143
HP:0011729	Abnormality of joint mobility	55823	VPS11	ORPHA:466934
HP:0011729	Abnormality of joint mobility	7051	TGM1	ORPHA:100976
HP:0011729	Abnormality of joint mobility	1763	DNA2	ORPHA:352470
HP:0011729	Abnormality of joint mobility	23396	PIP5K1C	OMIM:611369
HP:0011729	Abnormality of joint mobility	9499	MYOT	ORPHA:98911
HP:0011729	Abnormality of joint mobility	3417	IDH1	ORPHA:99646
HP:0011729	Abnormality of joint mobility	29925	GMPPB	ORPHA:370968
HP:0011729	Abnormality of joint mobility	29954	POMT2	ORPHA:370968
HP:0011729	Abnormality of joint mobility	9215	LARGE1	ORPHA:370968
HP:0011729	Abnormality of joint mobility	10585	POMT1	ORPHA:370968
HP:0011729	Abnormality of joint mobility	5373	PMM2	ORPHA:79318
HP:0011729	Abnormality of joint mobility	5981	RFC1	ORPHA:504476
HP:0011729	Abnormality of joint mobility	126792	B3GALT6	ORPHA:536467
HP:0011729	Abnormality of joint mobility	339855	KY	OMIM:617114
HP:0011729	Abnormality of joint mobility	199857	ALG14	OMIM:616227
HP:0011729	Abnormality of joint mobility	404672	GTF2H5	ORPHA:33364
HP:0011729	Abnormality of joint mobility	833	CARS1	ORPHA:33364
HP:0011729	Abnormality of joint mobility	7737	RNF113A	ORPHA:33364
HP:0011729	Abnormality of joint mobility	136647	MPLKIP	ORPHA:33364
HP:0011729	Abnormality of joint mobility	6897	TARS1	ORPHA:33364
HP:0011729	Abnormality of joint mobility	2071	ERCC3	ORPHA:33364
HP:0011729	Abnormality of joint mobility	2961	GTF2E2	ORPHA:33364
HP:0011729	Abnormality of joint mobility	6509	SLC1A4	ORPHA:447997
HP:0011729	Abnormality of joint mobility	23299	BICD2	OMIM:618291
HP:0011729	Abnormality of joint mobility	7317	UBA1	OMIM:301830
HP:0011729	Abnormality of joint mobility	10535	RNASEH2A	ORPHA:51
HP:0011729	Abnormality of joint mobility	84153	RNASEH2C	ORPHA:51
HP:0011729	Abnormality of joint mobility	25939	SAMHD1	ORPHA:51
HP:0011729	Abnormality of joint mobility	79621	RNASEH2B	ORPHA:51
HP:0011729	Abnormality of joint mobility	103	ADAR	ORPHA:51
HP:0011729	Abnormality of joint mobility	11277	TREX1	ORPHA:51
HP:0011729	Abnormality of joint mobility	100147744	RNU7-1	ORPHA:51
HP:0011729	Abnormality of joint mobility	134353	LSM11	ORPHA:51
HP:0011729	Abnormality of joint mobility	64135	IFIH1	ORPHA:51
HP:0011729	Abnormality of joint mobility	1861	TOR1A	OMIM:128100
HP:0011729	Abnormality of joint mobility	9325	TRIP4	ORPHA:486815
HP:0011729	Abnormality of joint mobility	6660	SOX5	ORPHA:313892
HP:0011729	Abnormality of joint mobility	5727	PTCH1	ORPHA:377
HP:0011729	Abnormality of joint mobility	5727	PTCH1	OMIM:109400
HP:0011729	Abnormality of joint mobility	8643	PTCH2	ORPHA:377
HP:0011729	Abnormality of joint mobility	51684	SUFU	ORPHA:377
HP:0011729	Abnormality of joint mobility	79147	FKRP	OMIM:606612
HP:0011729	Abnormality of joint mobility	79147	FKRP	OMIM:607155
HP:0011729	Abnormality of joint mobility	2335	FN1	ORPHA:93315
HP:0011729	Abnormality of joint mobility	54361	WNT4	ORPHA:3109
HP:0011729	Abnormality of joint mobility	29123	ANKRD11	ORPHA:2332
HP:0011729	Abnormality of joint mobility	29123	ANKRD11	OMIM:148050
HP:0011729	Abnormality of joint mobility	284058	KANSL1	OMIM:610443
HP:0011729	Abnormality of joint mobility	55191	NADSYN1	OMIM:618845
HP:0011729	Abnormality of joint mobility	3081	HGD	OMIM:203500
HP:0011729	Abnormality of joint mobility	2317	FLNB	OMIM:272460
HP:0011729	Abnormality of joint mobility	2317	FLNB	OMIM:150250
HP:0011729	Abnormality of joint mobility	4089	SMAD4	OMIM:139210
HP:0011729	Abnormality of joint mobility	4854	NOTCH3	OMIM:130720
HP:0011729	Abnormality of joint mobility	22827	PUF60	OMIM:615583
HP:0011729	Abnormality of joint mobility	1144	CHRND	OMIM:253290
HP:0011729	Abnormality of joint mobility	1134	CHRNA1	OMIM:253290
HP:0011729	Abnormality of joint mobility	53834	FGFRL1	OMIM:194190
HP:0011729	Abnormality of joint mobility	1487	CTBP1	OMIM:194190
HP:0011729	Abnormality of joint mobility	3954	LETM1	OMIM:194190
HP:0011729	Abnormality of joint mobility	7468	NSD2	OMIM:194190
HP:0011729	Abnormality of joint mobility	10815	CPLX1	OMIM:194190
HP:0011729	Abnormality of joint mobility	4990	SIX6	OMIM:206900
HP:0011729	Abnormality of joint mobility	6657	SOX2	OMIM:206900
HP:0011729	Abnormality of joint mobility	6911	TBX6	OMIM:122600
HP:0011729	Abnormality of joint mobility	5888	RAD51	ORPHA:238722
HP:0011729	Abnormality of joint mobility	10126	DNAL4	ORPHA:238722
HP:0011729	Abnormality of joint mobility	9423	NTN1	ORPHA:238722
HP:0011729	Abnormality of joint mobility	1630	DCC	ORPHA:238722
HP:0011729	Abnormality of joint mobility	5167	ENPP1	ORPHA:51608
HP:0011729	Abnormality of joint mobility	368	ABCC6	ORPHA:51608
HP:0011729	Abnormality of joint mobility	1108	CHD4	OMIM:617159
HP:0011729	Abnormality of joint mobility	9939	RBM8A	ORPHA:3320
HP:0011729	Abnormality of joint mobility	9939	RBM8A	OMIM:274000
HP:0011729	Abnormality of joint mobility	55215	FANCI	OMIM:609053
HP:0011729	Abnormality of joint mobility	3557	IL1RN	OMIM:612852
HP:0011729	Abnormality of joint mobility	51729	WBP11	OMIM:619227
HP:0011729	Abnormality of joint mobility	4222	MEOX1	OMIM:214300
HP:0011729	Abnormality of joint mobility	6154	RPL26	OMIM:614900
HP:0011729	Abnormality of joint mobility	50945	TBX22	OMIM:302905
HP:0011729	Abnormality of joint mobility	50945	TBX22	ORPHA:921
HP:0011729	Abnormality of joint mobility	29980	DONSON	OMIM:617604
HP:0011729	Abnormality of joint mobility	83932	SPRTN	OMIM:616200
HP:0011729	Abnormality of joint mobility	84065	TMEM222	OMIM:619470
HP:0011729	Abnormality of joint mobility	6628	SNRPB	OMIM:117650
HP:0011729	Abnormality of joint mobility	340419	RSPO2	OMIM:618022
HP:0011729	Abnormality of joint mobility	5286	PIK3C2A	OMIM:618440
HP:0011729	Abnormality of joint mobility	2137	EXTL3	ORPHA:508533
HP:0011729	Abnormality of joint mobility	5781	PTPN11	OMIM:151100
HP:0011729	Abnormality of joint mobility	56603	CYP26B1	OMIM:614416
HP:0011729	Abnormality of joint mobility	6335	SCN9A	ORPHA:33069
HP:0011729	Abnormality of joint mobility	6335	SCN9A	ORPHA:36387
HP:0011729	Abnormality of joint mobility	6326	SCN2A	ORPHA:33069
HP:0011729	Abnormality of joint mobility	6326	SCN2A	ORPHA:36387
HP:0011729	Abnormality of joint mobility	2554	GABRA1	ORPHA:33069
HP:0011729	Abnormality of joint mobility	6323	SCN1A	ORPHA:33069
HP:0011729	Abnormality of joint mobility	6323	SCN1A	ORPHA:36387
HP:0011729	Abnormality of joint mobility	6324	SCN1B	ORPHA:33069
HP:0011729	Abnormality of joint mobility	6324	SCN1B	ORPHA:36387
HP:0011729	Abnormality of joint mobility	57526	PCDH19	ORPHA:33069
HP:0011729	Abnormality of joint mobility	2566	GABRG2	ORPHA:33069
HP:0011729	Abnormality of joint mobility	2566	GABRG2	ORPHA:36387
HP:0011729	Abnormality of joint mobility	112755	STX1B	ORPHA:36387
HP:0011729	Abnormality of joint mobility	348980	HCN1	ORPHA:36387
HP:0011729	Abnormality of joint mobility	84059	ADGRV1	ORPHA:36387
HP:0011729	Abnormality of joint mobility	7476	WNT7A	OMIM:276820
HP:0011729	Abnormality of joint mobility	215	ABCD1	ORPHA:139396
HP:0011729	Abnormality of joint mobility	11160	ERLIN2	ORPHA:280384
HP:0011729	Abnormality of joint mobility	29968	PSAT1	ORPHA:284417
HP:0011729	Abnormality of joint mobility	51102	MECR	OMIM:617282
HP:0011729	Abnormality of joint mobility	3074	HEXB	ORPHA:309162
HP:0011729	Abnormality of joint mobility	170302	ARX	OMIM:300004
HP:0011729	Abnormality of joint mobility	8506	CNTNAP1	OMIM:618186
HP:0011729	Abnormality of joint mobility	23516	SLC39A14	OMIM:617013
HP:0011729	Abnormality of joint mobility	57679	ALS2	OMIM:205100
HP:0011729	Abnormality of joint mobility	7170	TPM3	OMIM:255310
HP:0011729	Abnormality of joint mobility	2902	GRIN1	OMIM:619814
HP:0011729	Abnormality of joint mobility	55131	RBM28	OMIM:612079
HP:0011729	Abnormality of joint mobility	2157	F8	ORPHA:169802
HP:0011729	Abnormality of joint mobility	51091	SEPSECS	OMIM:613811
HP:0011729	Abnormality of joint mobility	819	CAMLG	OMIM:620201
HP:0011729	Abnormality of joint mobility	5277	PIGA	OMIM:301072
HP:0011729	Abnormality of joint mobility	55768	NGLY1	ORPHA:404454
HP:0011729	Abnormality of joint mobility	1308	COL17A1	ORPHA:251393
HP:0011729	Abnormality of joint mobility	3691	ITGB4	ORPHA:251393
HP:0011729	Abnormality of joint mobility	4784	NFIX	OMIM:602535
HP:0011729	Abnormality of joint mobility	7138	TNNT1	OMIM:605355
HP:0011729	Abnormality of joint mobility	10290	SPEG	ORPHA:169186
HP:0011729	Abnormality of joint mobility	10290	SPEG	OMIM:615959
HP:0011729	Abnormality of joint mobility	2617	GARS1	OMIM:619042
HP:0011729	Abnormality of joint mobility	54681	P4HTM	OMIM:618493
HP:0011729	Abnormality of joint mobility	7547	ZIC3	OMIM:306955
HP:0011729	Abnormality of joint mobility	10992	SF3B2	OMIM:164210
HP:0011729	Abnormality of joint mobility	1280	COL2A1	ORPHA:485
HP:0011729	Abnormality of joint mobility	55252	ASXL2	OMIM:617190
HP:0011729	Abnormality of joint mobility	27125	AFF4	ORPHA:444077
HP:0011729	Abnormality of joint mobility	27125	AFF4	OMIM:616368
HP:0011729	Abnormality of joint mobility	55870	ASH1L	OMIM:617796
HP:0011729	Abnormality of joint mobility	1009	CDH11	OMIM:211380
HP:0011729	Abnormality of joint mobility	7291	TWIST1	ORPHA:794
HP:0011729	Abnormality of joint mobility	3209	HOXA13	ORPHA:2438
HP:0011729	Abnormality of joint mobility	5566	PRKACA	ORPHA:289
HP:0011729	Abnormality of joint mobility	5567	PRKACB	ORPHA:289
HP:0011729	Abnormality of joint mobility	2735	GLI1	ORPHA:289
HP:0011729	Abnormality of joint mobility	2121	EVC	ORPHA:289
HP:0011729	Abnormality of joint mobility	51626	DYNC2LI1	ORPHA:289
HP:0011729	Abnormality of joint mobility	132884	EVC2	ORPHA:289
HP:0011729	Abnormality of joint mobility	4038	LRP4	ORPHA:3258
HP:0011729	Abnormality of joint mobility	29920	PYCR2	ORPHA:481152
HP:0011729	Abnormality of joint mobility	11342	RNF13	ORPHA:544503
HP:0011729	Abnormality of joint mobility	3373	HYAL1	OMIM:601492
HP:0011729	Abnormality of joint mobility	654	BMP6	ORPHA:465508
HP:0011729	Abnormality of joint mobility	3077	HFE	ORPHA:465508
HP:0011729	Abnormality of joint mobility	9401	RECQL4	OMIM:266280
HP:0011729	Abnormality of joint mobility	7020	TFAP2A	OMIM:113620
HP:0011729	Abnormality of joint mobility	51082	POLR1D	OMIM:613717
HP:0011729	Abnormality of joint mobility	23389	MED13L	ORPHA:369891
HP:0011729	Abnormality of joint mobility	55628	ZNF407	OMIM:619557
HP:0011729	Abnormality of joint mobility	23219	FBXO28	OMIM:619777
HP:0011729	Abnormality of joint mobility	1281	COL3A1	OMIM:130050
HP:0011729	Abnormality of joint mobility	89970	RSPRY1	ORPHA:457395
HP:0011729	Abnormality of joint mobility	23111	SPART	OMIM:275900
HP:0011729	Abnormality of joint mobility	6651	SON	ORPHA:500150
HP:0011729	Abnormality of joint mobility	1123	CHN1	ORPHA:233
HP:0011729	Abnormality of joint mobility	9573	GDF3	ORPHA:2345
HP:0011729	Abnormality of joint mobility	168667	BMPER	ORPHA:66637
HP:0011729	Abnormality of joint mobility	81839	VANGL1	ORPHA:3027
HP:0011729	Abnormality of joint mobility	80199	FUZ	ORPHA:3027
HP:0011729	Abnormality of joint mobility	3798	KIF5A	ORPHA:100991
HP:0011729	Abnormality of joint mobility	34	ACADM	ORPHA:42
HP:0011729	Abnormality of joint mobility	4897	NRCAM	OMIM:619833
HP:0011729	Abnormality of joint mobility	9871	SEC24D	ORPHA:2050
HP:0011729	Abnormality of joint mobility	5034	P4HB	ORPHA:2050
HP:0011729	Abnormality of joint mobility	23363	OBSL1	ORPHA:2616
HP:0011729	Abnormality of joint mobility	23118	TAB2	ORPHA:228410
HP:0011729	Abnormality of joint mobility	5744	PTHLH	ORPHA:93387
HP:0011729	Abnormality of joint mobility	51098	IFT52	ORPHA:1515
HP:0011729	Abnormality of joint mobility	137492	VPS37A	ORPHA:319199
HP:0011729	Abnormality of joint mobility	137492	VPS37A	OMIM:614898
HP:0011729	Abnormality of joint mobility	1312	COMT	ORPHA:567
HP:0011729	Abnormality of joint mobility	221037	JMJD1C	ORPHA:567
HP:0011729	Abnormality of joint mobility	2812	GP1BB	ORPHA:567
HP:0011729	Abnormality of joint mobility	6239	RREB1	ORPHA:567
HP:0011729	Abnormality of joint mobility	6899	TBX1	ORPHA:567
HP:0011729	Abnormality of joint mobility	7290	HIRA	ORPHA:567
HP:0011729	Abnormality of joint mobility	9632	SEC24C	ORPHA:567
HP:0011729	Abnormality of joint mobility	7353	UFD1	ORPHA:567
HP:0011729	Abnormality of joint mobility	421	ARVCF	ORPHA:567
HP:0011729	Abnormality of joint mobility	1501	CTNND2	ORPHA:281
HP:0011729	Abnormality of joint mobility	9037	SEMA5A	ORPHA:281
HP:0011729	Abnormality of joint mobility	5062	PAK2	ORPHA:1571
HP:0011729	Abnormality of joint mobility	64132	XYLT2	ORPHA:85194
HP:0011729	Abnormality of joint mobility	3981	LIG4	ORPHA:235
HP:0011729	Abnormality of joint mobility	6928	HNF1B	ORPHA:93111
HP:0011729	Abnormality of joint mobility	8936	WASF1	OMIM:618707
HP:0011729	Abnormality of joint mobility	545	ATR	ORPHA:808
HP:0011729	Abnormality of joint mobility	1062	CENPE	ORPHA:808
HP:0011729	Abnormality of joint mobility	5932	RBBP8	ORPHA:808
HP:0011729	Abnormality of joint mobility	79902	NUP85	ORPHA:808
HP:0011729	Abnormality of joint mobility	84126	ATRIP	ORPHA:808
HP:0011729	Abnormality of joint mobility	55835	CENPJ	ORPHA:808
HP:0011729	Abnormality of joint mobility	10293	TRAIP	ORPHA:808
HP:0011729	Abnormality of joint mobility	22995	CEP152	ORPHA:808
HP:0011729	Abnormality of joint mobility	10733	PLK4	ORPHA:808
HP:0011729	Abnormality of joint mobility	22800	RRAS2	ORPHA:648
HP:0011729	Abnormality of joint mobility	6016	RIT1	ORPHA:648
HP:0011729	Abnormality of joint mobility	6237	RRAS	ORPHA:648
HP:0011729	Abnormality of joint mobility	5894	RAF1	ORPHA:648
HP:0011729	Abnormality of joint mobility	22808	MRAS	ORPHA:648
HP:0011729	Abnormality of joint mobility	4893	NRAS	ORPHA:648
HP:0011729	Abnormality of joint mobility	6654	SOS1	ORPHA:648
HP:0011729	Abnormality of joint mobility	6655	SOS2	ORPHA:648
HP:0011729	Abnormality of joint mobility	5922	RASA2	ORPHA:648
HP:0011729	Abnormality of joint mobility	1297	COL9A1	ORPHA:250984
HP:0011729	Abnormality of joint mobility	1298	COL9A2	ORPHA:250984
HP:0011729	Abnormality of joint mobility	84695	LOXL3	ORPHA:250984
HP:0011729	Abnormality of joint mobility	84340	GFM2	ORPHA:565624
HP:0011729	Abnormality of joint mobility	55906	ZC4H2	ORPHA:3454
HP:0011729	Abnormality of joint mobility	55906	ZC4H2	OMIM:314580
HP:0011729	Abnormality of joint mobility	60386	SLC25A19	OMIM:613710
HP:0011729	Abnormality of joint mobility	2521	FUS	ORPHA:300605
HP:0011729	Abnormality of joint mobility	80208	SPG11	ORPHA:300605
HP:0011729	Abnormality of joint mobility	10280	SIGMAR1	ORPHA:300605
HP:0011729	Abnormality of joint mobility	10558	SPTLC1	ORPHA:300605
HP:0011729	Abnormality of joint mobility	80232	WDR26	ORPHA:513456
HP:0011729	Abnormality of joint mobility	6134	RPL10	ORPHA:459070
HP:0011729	Abnormality of joint mobility	3767	KCNJ11	ORPHA:99885
HP:0011729	Abnormality of joint mobility	6774	STAT3	ORPHA:99885
HP:0011729	Abnormality of joint mobility	2645	GCK	ORPHA:99885
HP:0011729	Abnormality of joint mobility	3651	PDX1	ORPHA:99885
HP:0011729	Abnormality of joint mobility	6833	ABCC8	ORPHA:99885
HP:0011729	Abnormality of joint mobility	3630	INS	ORPHA:99885
HP:0011729	Abnormality of joint mobility	8818	DPM2	ORPHA:329178
HP:0011729	Abnormality of joint mobility	1193	CLIC2	ORPHA:324410
HP:0011729	Abnormality of joint mobility	5830	PEX5	OMIM:616716
HP:0011729	Abnormality of joint mobility	23556	PIGN	ORPHA:280633
HP:0011729	Abnormality of joint mobility	8823	FGF16	OMIM:309630
HP:0011729	Abnormality of joint mobility	9775	EIF4A3	OMIM:268305
HP:0011729	Abnormality of joint mobility	2643	GCH1	ORPHA:98808
HP:0011729	Abnormality of joint mobility	4929	NR4A2	ORPHA:98808
HP:0011729	Abnormality of joint mobility	3615	IMPDH2	ORPHA:98808
HP:0011729	Abnormality of joint mobility	6857	SYT1	ORPHA:522077
HP:0011729	Abnormality of joint mobility	157570	ESCO2	ORPHA:3103
HP:0011729	Abnormality of joint mobility	22880	MORC2	ORPHA:466768
HP:0011729	Abnormality of joint mobility	825	CAPN3	ORPHA:267
HP:0011729	Abnormality of joint mobility	113179	ADAT3	ORPHA:363528
HP:0011729	Abnormality of joint mobility	7043	TGFB3	OMIM:615582
HP:0011729	Abnormality of joint mobility	2737	GLI3	ORPHA:93322
HP:0011729	Abnormality of joint mobility	5447	POR	ORPHA:95699
HP:0011729	Abnormality of joint mobility	57167	SALL4	OMIM:147750
HP:0011729	Abnormality of joint mobility	54332	GDAP1	ORPHA:99948
HP:0011729	Abnormality of joint mobility	2254	FGF9	OMIM:612961
HP:0011729	Abnormality of joint mobility	7528	YY1	ORPHA:506358
HP:0011729	Abnormality of joint mobility	7528	YY1	OMIM:617557
HP:0011729	Abnormality of joint mobility	22861	NLRP1	OMIM:615225
HP:0011729	Abnormality of joint mobility	9987	HNRNPDL	OMIM:609115
HP:0011729	Abnormality of joint mobility	8292	COLQ	ORPHA:98915
HP:0011729	Abnormality of joint mobility	3913	LAMB2	ORPHA:98915
HP:0011729	Abnormality of joint mobility	4976	OPA1	OMIM:210000
HP:0011729	Abnormality of joint mobility	4921	DDR2	OMIM:271665
HP:0011729	Abnormality of joint mobility	23141	ANKLE2	OMIM:616681
HP:0011729	Abnormality of joint mobility	6840	SVIL	OMIM:619040
HP:0011729	Abnormality of joint mobility	3714	JAG2	OMIM:619566
HP:0011729	Abnormality of joint mobility	51506	UFC1	OMIM:618076
HP:0011729	Abnormality of joint mobility	23321	TRIM2	OMIM:615490
HP:0011729	Abnormality of joint mobility	79644	SRD5A3	OMIM:612713
HP:0011729	Abnormality of joint mobility	9531	BAG3	OMIM:612954
HP:0011729	Abnormality of joint mobility	9653	HS2ST1	OMIM:619194
HP:0011729	Abnormality of joint mobility	10804	GJB6	ORPHA:477
HP:0011729	Abnormality of joint mobility	2706	GJB2	ORPHA:477
HP:0011729	Abnormality of joint mobility	2706	GJB2	OMIM:148210
HP:0011729	Abnormality of joint mobility	285175	UNC80	ORPHA:371364
HP:0011729	Abnormality of joint mobility	84992	PIGY	OMIM:616809
HP:0011729	Abnormality of joint mobility	10613	ERLIN1	ORPHA:401785
HP:0011729	Abnormality of joint mobility	2222	FDFT1	OMIM:618156
HP:0011729	Abnormality of joint mobility	83636	C19orf12	OMIM:615043
HP:0011729	Abnormality of joint mobility	4773	NFATC2	OMIM:620232
HP:0011729	Abnormality of joint mobility	1376	CPT2	OMIM:608836
HP:0011729	Abnormality of joint mobility	5296	PIK3R2	OMIM:603387
HP:0011729	Abnormality of joint mobility	23387	SIK3	OMIM:618162
HP:0011729	Abnormality of joint mobility	6392	SDHD	ORPHA:3208
HP:0011729	Abnormality of joint mobility	644096	SDHAF1	ORPHA:3208
HP:0011729	Abnormality of joint mobility	8449	DHX16	OMIM:618733
HP:0011729	Abnormality of joint mobility	7415	VCP	ORPHA:435387
HP:0011729	Abnormality of joint mobility	2318	FLNC	ORPHA:63273
HP:0011729	Abnormality of joint mobility	4233	MET	OMIM:620019
HP:0011729	Abnormality of joint mobility	4091	SMAD6	OMIM:179300
HP:0011729	Abnormality of joint mobility	10584	COLEC10	ORPHA:293843
HP:0011729	Abnormality of joint mobility	5648	MASP1	ORPHA:293843
HP:0011729	Abnormality of joint mobility	78989	COLEC11	ORPHA:293843
HP:0011729	Abnormality of joint mobility	2122	MECOM	OMIM:616738
HP:0011729	Abnormality of joint mobility	3207	HOXA11	OMIM:605432
HP:0011729	Abnormality of joint mobility	1859	DYRK1A	ORPHA:464311
HP:0011729	Abnormality of joint mobility	1605	DAG1	OMIM:613818
HP:0011729	Abnormality of joint mobility	1605	DAG1	ORPHA:280333
HP:0011729	Abnormality of joint mobility	55958	KLHL9	ORPHA:399081
HP:0011729	Abnormality of joint mobility	84876	ORAI1	OMIM:615883
HP:0011729	Abnormality of joint mobility	87178	PNPT1	ORPHA:319514
HP:0011729	Abnormality of joint mobility	210	ALAD	ORPHA:100924
HP:0011729	Abnormality of joint mobility	513	ATP5F1D	OMIM:618120
HP:0011729	Abnormality of joint mobility	57731	SPTBN4	OMIM:617519
HP:0011729	Abnormality of joint mobility	497661	C18orf32	OMIM:619985
HP:0011729	Abnormality of joint mobility	7407	VARS1	OMIM:617802
HP:0011729	Abnormality of joint mobility	9896	FIG4	OMIM:611228
HP:0011729	Abnormality of joint mobility	6812	STXBP1	ORPHA:495818
HP:0011729	Abnormality of joint mobility	145258	GSC	OMIM:602471
HP:0011729	Abnormality of joint mobility	65055	REEP1	OMIM:620011
HP:0011729	Abnormality of joint mobility	2263	FGFR2	OMIM:123150
HP:0011729	Abnormality of joint mobility	51305	KCNK9	ORPHA:166108
HP:0011729	Abnormality of joint mobility	4312	MMP1	ORPHA:79408
HP:0011729	Abnormality of joint mobility	1294	COL7A1	ORPHA:79408
HP:0011729	Abnormality of joint mobility	2972	BRF1	ORPHA:444072
HP:0011729	Abnormality of joint mobility	23259	DDHD2	ORPHA:320380
HP:0011729	Abnormality of joint mobility	54828	BCAS3	OMIM:619641
HP:0011729	Abnormality of joint mobility	51651	PTRH2	ORPHA:456312
HP:0011729	Abnormality of joint mobility	1235	CCR6	ORPHA:220402
HP:0011729	Abnormality of joint mobility	79932	KIAA0319L	ORPHA:220402
HP:0011729	Abnormality of joint mobility	1490	CCN2	ORPHA:220402
HP:0011729	Abnormality of joint mobility	3663	IRF5	ORPHA:220402
HP:0011729	Abnormality of joint mobility	857	CAV1	ORPHA:220402
HP:0011729	Abnormality of joint mobility	3123	HLA-DRB1	ORPHA:220402
HP:0011729	Abnormality of joint mobility	1161	ERCC8	ORPHA:90321
HP:0011729	Abnormality of joint mobility	2072	ERCC4	ORPHA:90321
HP:0011729	Abnormality of joint mobility	392255	GDF6	OMIM:617898
HP:0011729	Abnormality of joint mobility	658	BMPR1B	ORPHA:2098
HP:0011729	Abnormality of joint mobility	658	BMPR1B	ORPHA:2639
HP:0011729	Abnormality of joint mobility	658	BMPR1B	OMIM:609441
HP:0011729	Abnormality of joint mobility	9496	TBX4	OMIM:147891
HP:0011729	Abnormality of joint mobility	8195	MKKS	ORPHA:2473
HP:0011729	Abnormality of joint mobility	8481	OFD1	ORPHA:2750
HP:0011729	Abnormality of joint mobility	64093	SMOC1	ORPHA:1106
HP:0011729	Abnormality of joint mobility	538	ATP7A	ORPHA:565
HP:0011729	Abnormality of joint mobility	2192	FBLN1	OMIM:608180
HP:0011729	Abnormality of joint mobility	5745	PTH1R	ORPHA:79106
HP:0011729	Abnormality of joint mobility	2131	EXT1	ORPHA:321
HP:0011729	Abnormality of joint mobility	2132	EXT2	ORPHA:321
HP:0011729	Abnormality of joint mobility	8291	DYSF	ORPHA:268
HP:0011729	Abnormality of joint mobility	1311	COMP	OMIM:132400
HP:0011729	Abnormality of joint mobility	123606	NIPA1	ORPHA:100988
HP:0011729	Abnormality of joint mobility	10082	GPC6	OMIM:258315
HP:0011729	Abnormality of joint mobility	4148	MATN3	ORPHA:93311
HP:0011729	Abnormality of joint mobility	10664	CTCF	ORPHA:363611
HP:0011729	Abnormality of joint mobility	219854	TMEM218	OMIM:619562
HP:0011729	Abnormality of joint mobility	23291	FBXW11	OMIM:618914
HP:0011729	Abnormality of joint mobility	9757	KMT2B	OMIM:619934
HP:0011729	Abnormality of joint mobility	10765	KDM5B	OMIM:618109
HP:0011729	Abnormality of joint mobility	10093	ARPC4	OMIM:620141
HP:0011729	Abnormality of joint mobility	7021	TFAP2B	OMIM:169100
HP:0011729	Abnormality of joint mobility	6909	TBX2	OMIM:618223
HP:0011729	Abnormality of joint mobility	80816	ASXL3	OMIM:615485
HP:0011729	Abnormality of joint mobility	81857	MED25	ORPHA:464738
HP:0011729	Abnormality of joint mobility	7390	UROS	OMIM:263700
HP:0011729	Abnormality of joint mobility	57449	PLEKHG5	OMIM:611067
HP:0011729	Abnormality of joint mobility	5376	PMP22	ORPHA:90658
HP:0011729	Abnormality of joint mobility	1277	COL1A1	OMIM:130060
HP:0011729	Abnormality of joint mobility	23327	NEDD4L	OMIM:617201
HP:0011729	Abnormality of joint mobility	8985	PLOD3	OMIM:612394
HP:0011729	Abnormality of joint mobility	4010	LMX1B	ORPHA:2614
HP:0011729	Abnormality of joint mobility	6662	SOX9	OMIM:114290
HP:0011729	Abnormality of joint mobility	4297	KMT2A	OMIM:605130
HP:0011729	Abnormality of joint mobility	64682	ANAPC1	ORPHA:221008
HP:0011729	Abnormality of joint mobility	7545	ZIC1	ORPHA:35099
HP:0011729	Abnormality of joint mobility	23261	CAMTA1	OMIM:614756
HP:0011729	Abnormality of joint mobility	7337	UBE3A	ORPHA:98794
HP:0011729	Abnormality of joint mobility	4948	OCA2	ORPHA:98794
HP:0011729	Abnormality of joint mobility	3008	H1-4	OMIM:617537
HP:0011729	Abnormality of joint mobility	9382	COG1	OMIM:611209
HP:0011729	Abnormality of joint mobility	57231	SNX14	ORPHA:397709
HP:0011729	Abnormality of joint mobility	57231	SNX14	OMIM:616354
HP:0011729	Abnormality of joint mobility	56992	KIF15	ORPHA:261323
HP:0011729	Abnormality of joint mobility	57589	RIC1	OMIM:618761
HP:0011729	Abnormality of joint mobility	80776	B9D2	OMIM:614175
HP:0011729	Abnormality of joint mobility	1954	MEGF8	OMIM:614976
HP:0011729	Abnormality of joint mobility	79053	ALG8	OMIM:608104
HP:0011729	Abnormality of joint mobility	79053	ALG8	ORPHA:79325
HP:0011729	Abnormality of joint mobility	26227	PHGDH	OMIM:256520
HP:0011729	Abnormality of joint mobility	1001	CDH3	OMIM:225280
HP:0011729	Abnormality of joint mobility	79228	THOC6	ORPHA:363444
HP:0011729	Abnormality of joint mobility	8626	TP63	OMIM:603543
HP:0011729	Abnormality of joint mobility	8813	DPM1	OMIM:608799
HP:0011729	Abnormality of joint mobility	8813	DPM1	ORPHA:79322
HP:0011729	Abnormality of joint mobility	79087	ALG12	ORPHA:79324
HP:0011729	Abnormality of joint mobility	26100	WIPI2	OMIM:618453
HP:0011729	Abnormality of joint mobility	9427	ECEL1	OMIM:615065
HP:0011729	Abnormality of joint mobility	1801	DPH1	ORPHA:459061
HP:0011729	Abnormality of joint mobility	81848	SPRY4	ORPHA:432
HP:0011729	Abnormality of joint mobility	128674	PROKR2	ORPHA:432
HP:0011729	Abnormality of joint mobility	60675	PROK2	ORPHA:432
HP:0011729	Abnormality of joint mobility	55636	CHD7	ORPHA:432
HP:0011729	Abnormality of joint mobility	6870	TACR3	ORPHA:432
HP:0011729	Abnormality of joint mobility	1848	DUSP6	ORPHA:432
HP:0011729	Abnormality of joint mobility	26012	NSMF	ORPHA:432
HP:0011729	Abnormality of joint mobility	55717	WDR11	ORPHA:432
HP:0011729	Abnormality of joint mobility	9394	HS6ST1	ORPHA:432
HP:0011729	Abnormality of joint mobility	2796	GNRH1	ORPHA:432
HP:0011729	Abnormality of joint mobility	2798	GNRHR	ORPHA:432
HP:0011729	Abnormality of joint mobility	84634	KISS1R	ORPHA:432
HP:0011729	Abnormality of joint mobility	6866	TAC3	ORPHA:432
HP:0011729	Abnormality of joint mobility	8822	FGF17	ORPHA:432
HP:0011729	Abnormality of joint mobility	3814	KISS1	ORPHA:432
HP:0011729	Abnormality of joint mobility	9158	FIBP	ORPHA:500095
HP:0011729	Abnormality of joint mobility	28982	FLVCR1	ORPHA:88628
HP:0011729	Abnormality of joint mobility	28982	FLVCR1	OMIM:609033
HP:0011729	Abnormality of joint mobility	56915	EXOSC5	OMIM:619576
HP:0011729	Abnormality of joint mobility	92255	LMBRD2	OMIM:619694
HP:0011729	Abnormality of joint mobility	23511	NUP188	OMIM:618804
HP:0011729	Abnormality of joint mobility	10943	MSL3	OMIM:301032
HP:0011729	Abnormality of joint mobility	55975	KLHL7	OMIM:617055
HP:0011729	Abnormality of joint mobility	51715	RAB23	OMIM:201000
HP:0011729	Abnormality of joint mobility	90416	CCDC32	OMIM:619123
HP:0011729	Abnormality of joint mobility	139285	AMER1	OMIM:300373
HP:0011729	Abnormality of joint mobility	10084	PQBP1	OMIM:309500
HP:0011729	Abnormality of joint mobility	9487	PIGL	OMIM:280000
HP:0011729	Abnormality of joint mobility	3868	KRT16	ORPHA:2199
HP:0011729	Abnormality of joint mobility	3857	KRT9	ORPHA:2199
HP:0011729	Abnormality of joint mobility	6913	TBX15	OMIM:260660
HP:0011729	Abnormality of joint mobility	2036	EPB41L1	OMIM:614257
HP:0011729	Abnormality of joint mobility	523	ATP6V1A	OMIM:617403
HP:0011729	Abnormality of joint mobility	91754	NEK9	OMIM:617022
HP:0011729	Abnormality of joint mobility	4722	NDUFS3	OMIM:618230
HP:0011729	Abnormality of joint mobility	22943	DKK1	ORPHA:268882
HP:0011729	Abnormality of joint mobility	54820	NDE1	ORPHA:2177
HP:0011729	Abnormality of joint mobility	26040	SETBP1	ORPHA:798
HP:0011729	Abnormality of joint mobility	8398	PLA2G6	ORPHA:199351
HP:0011729	Abnormality of joint mobility	6399	TRAPPC2	ORPHA:93284
HP:0011729	Abnormality of joint mobility	1836	SLC26A2	ORPHA:93307
HP:0011729	Abnormality of joint mobility	64065	PERP	OMIM:619208
HP:0011729	Abnormality of joint mobility	2773	GNAI3	OMIM:602483
HP:0011729	Abnormality of joint mobility	1272	CNTN1	OMIM:612540
HP:0011729	Abnormality of joint mobility	64423	INF2	OMIM:614455
HP:0011729	Abnormality of joint mobility	10397	NDRG1	OMIM:601455
HP:0011729	Abnormality of joint mobility	3315	HSPB1	OMIM:606595
HP:0011729	Abnormality of joint mobility	8566	PDXK	OMIM:618511
HP:0011729	Abnormality of joint mobility	3098	HK1	OMIM:605285
HP:0011729	Abnormality of joint mobility	3481	IGF2	OMIM:616489
HP:0011729	Abnormality of joint mobility	57038	RARS2	OMIM:611523
HP:0011729	Abnormality of joint mobility	80347	COASY	OMIM:618266
HP:0011729	Abnormality of joint mobility	197258	FCSK	OMIM:618324
HP:0011729	Abnormality of joint mobility	2530	FUT8	OMIM:618005
HP:0011729	Abnormality of joint mobility	11019	LIAS	OMIM:614462
HP:0011729	Abnormality of joint mobility	54892	NCAPG2	OMIM:618460
HP:0011729	Abnormality of joint mobility	51501	HIKESHI	OMIM:616881
HP:0011729	Abnormality of joint mobility	9255	AIMP1	OMIM:260600
HP:0011729	Abnormality of joint mobility	56270	WDR45B	OMIM:617977
HP:0011729	Abnormality of joint mobility	5111	PCNA	OMIM:615919
HP:0011729	Abnormality of joint mobility	5424	POLD1	OMIM:615381
HP:0011729	Abnormality of joint mobility	58497	PRUNE1	OMIM:617481
HP:0011729	Abnormality of joint mobility	65993	MRPS34	OMIM:617664
HP:0011729	Abnormality of joint mobility	55331	ACER3	OMIM:617762
HP:0011729	Abnormality of joint mobility	55640	FLVCR2	OMIM:225790
HP:0011729	Abnormality of joint mobility	2893	GRIA4	OMIM:617864
HP:0011729	Abnormality of joint mobility	221927	BRAT1	OMIM:614498
HP:0011729	Abnormality of joint mobility	6785	ELOVL4	OMIM:614457
HP:0011729	Abnormality of joint mobility	23534	TNPO3	OMIM:608423
HP:0011729	Abnormality of joint mobility	374393	FAM111B	OMIM:615704
HP:0011729	Abnormality of joint mobility	4210	MEFV	ORPHA:329967
HP:0011729	Abnormality of joint mobility	7132	TNFRSF1A	ORPHA:329967
HP:0011729	Abnormality of joint mobility	5116	PCNT	OMIM:210720
HP:0011729	Abnormality of joint mobility	22856	CHSY1	ORPHA:363417
HP:0011729	Abnormality of joint mobility	5528	PPP2R5D	ORPHA:457279
HP:0011729	Abnormality of joint mobility	2218	FKTN	ORPHA:272
HP:0011729	Abnormality of joint mobility	4621	MYH3	ORPHA:2053
HP:0011729	Abnormality of joint mobility	4621	MYH3	ORPHA:1146
HP:0011729	Abnormality of joint mobility	4621	MYH3	ORPHA:2990
HP:0011729	Abnormality of joint mobility	259232	NALCN	ORPHA:2053
HP:0011729	Abnormality of joint mobility	259232	NALCN	ORPHA:1146
HP:0011729	Abnormality of joint mobility	8294	H4C9	OMIM:619951
HP:0011729	Abnormality of joint mobility	3094	HINT1	ORPHA:324442
HP:0011729	Abnormality of joint mobility	8838	CCN6	OMIM:208230
HP:0011729	Abnormality of joint mobility	1947	EFNB1	ORPHA:1520
HP:0011729	Abnormality of joint mobility	7355	SLC35A2	ORPHA:356961
HP:0011729	Abnormality of joint mobility	118429	ANTXR2	ORPHA:2176
HP:0011729	Abnormality of joint mobility	5077	PAX3	ORPHA:1529
HP:0011729	Abnormality of joint mobility	5077	PAX3	ORPHA:896
HP:0011729	Abnormality of joint mobility	5077	PAX3	OMIM:148820
HP:0011729	Abnormality of joint mobility	2316	FLNA	OMIM:300244
HP:0011729	Abnormality of joint mobility	2316	FLNA	ORPHA:90652
HP:0011729	Abnormality of joint mobility	2316	FLNA	ORPHA:1826
HP:0011729	Abnormality of joint mobility	2316	FLNA	OMIM:305620
HP:0011729	Abnormality of joint mobility	9241	NOG	ORPHA:3250
HP:0011729	Abnormality of joint mobility	8200	GDF5	ORPHA:3250
HP:0011729	Abnormality of joint mobility	54968	TMEM70	ORPHA:1194
HP:0011729	Abnormality of joint mobility	613	BCR	ORPHA:261330
HP:0011729	Abnormality of joint mobility	1399	CRKL	ORPHA:261330
HP:0011729	Abnormality of joint mobility	5594	MAPK1	ORPHA:261330
HP:0011729	Abnormality of joint mobility	84466	MEGF10	OMIM:614399
HP:0011729	Abnormality of joint mobility	72	ACTG2	ORPHA:2604
HP:0011729	Abnormality of joint mobility	10216	PRG4	ORPHA:2848
HP:0011729	Abnormality of joint mobility	3508	IGHMBP2	OMIM:604320
HP:0011729	Abnormality of joint mobility	6926	TBX3	ORPHA:3138
HP:0011729	Abnormality of joint mobility	51360	MBTPS2	ORPHA:2273
HP:0011729	Abnormality of joint mobility	10381	TUBB3	OMIM:600638
HP:0011729	Abnormality of joint mobility	9469	CHST3	OMIM:143095
HP:0011729	Abnormality of joint mobility	3423	IDS	ORPHA:217085
HP:0011729	Abnormality of joint mobility	3423	IDS	ORPHA:217093
HP:0011729	Abnormality of joint mobility	64359	NXN	ORPHA:1507
HP:0011729	Abnormality of joint mobility	4920	ROR2	ORPHA:1507
HP:0011729	Abnormality of joint mobility	2697	GJA1	ORPHA:2710
HP:0011729	Abnormality of joint mobility	2697	GJA1	ORPHA:93404
HP:0011729	Abnormality of joint mobility	64127	NOD2	OMIM:186580
HP:0011729	Abnormality of joint mobility	64127	NOD2	ORPHA:90340
HP:0011729	Abnormality of joint mobility	6999	TDO2	OMIM:600627
HP:0011729	Abnormality of joint mobility	1301	COL11A1	ORPHA:2021
HP:0011729	Abnormality of joint mobility	1302	COL11A2	ORPHA:2021
HP:0011729	Abnormality of joint mobility	10716	TBR1	ORPHA:1617
HP:0011729	Abnormality of joint mobility	3425	IDUA	OMIM:607015
HP:0011729	Abnormality of joint mobility	3425	IDUA	ORPHA:93473
HP:0011729	Abnormality of joint mobility	4593	MUSK	OMIM:208150
HP:0011729	Abnormality of joint mobility	4593	MUSK	ORPHA:994
HP:0011729	Abnormality of joint mobility	63895	PIEZO2	OMIM:114300
HP:0011729	Abnormality of joint mobility	63895	PIEZO2	ORPHA:376
HP:0011729	Abnormality of joint mobility	63895	PIEZO2	ORPHA:2461
HP:0011729	Abnormality of joint mobility	56006	SMG9	OMIM:616920
HP:0011729	Abnormality of joint mobility	1857	DVL3	ORPHA:3107
HP:0011729	Abnormality of joint mobility	7474	WNT5A	ORPHA:3107
HP:0011729	Abnormality of joint mobility	1855	DVL1	ORPHA:3107
HP:0011729	Abnormality of joint mobility	2535	FZD2	ORPHA:3107
HP:0011729	Abnormality of joint mobility	9508	ADAMTS3	ORPHA:2136
HP:0011729	Abnormality of joint mobility	147372	CCBE1	ORPHA:2136
HP:0011729	Abnormality of joint mobility	79633	FAT4	ORPHA:2136
HP:0011729	Abnormality of joint mobility	5189	PEX1	ORPHA:3220
HP:0011729	Abnormality of joint mobility	5190	PEX6	ORPHA:3220
HP:0011729	Abnormality of joint mobility	5590	PRKCZ	ORPHA:1606
HP:0011729	Abnormality of joint mobility	2563	GABRD	ORPHA:1606
HP:0011729	Abnormality of joint mobility	23013	SPEN	ORPHA:1606
HP:0011729	Abnormality of joint mobility	8510	MMP23B	ORPHA:1606
HP:0011729	Abnormality of joint mobility	7798	LUZP1	ORPHA:1606
HP:0011729	Abnormality of joint mobility	6497	SKI	ORPHA:1606
HP:0011729	Abnormality of joint mobility	6497	SKI	ORPHA:2462
HP:0011729	Abnormality of joint mobility	10630	PDPN	ORPHA:1606
HP:0011729	Abnormality of joint mobility	3339	HSPG2	ORPHA:1606
HP:0011729	Abnormality of joint mobility	10277	UBE4B	ORPHA:1606
HP:0011729	Abnormality of joint mobility	8514	KCNAB2	ORPHA:1606
HP:0011729	Abnormality of joint mobility	473	RERE	ORPHA:1606
HP:0011729	Abnormality of joint mobility	63976	PRDM16	ORPHA:1606
HP:0011729	Abnormality of joint mobility	54897	CASZ1	ORPHA:1606
HP:0011729	Abnormality of joint mobility	9719	ADAMTSL2	OMIM:231050
HP:0011729	Abnormality of joint mobility	4952	OCRL	OMIM:309000
HP:0011729	Abnormality of joint mobility	8517	IKBKG	ORPHA:464
HP:0011729	Abnormality of joint mobility	10436	EMG1	ORPHA:1270
HP:0011729	Abnormality of joint mobility	57492	ARID1B	ORPHA:251056
HP:0011729	Abnormality of joint mobility	11128	POLR3A	ORPHA:3455
HP:0011729	Abnormality of joint mobility	2239	GPC4	ORPHA:373
HP:0011729	Abnormality of joint mobility	2719	GPC3	ORPHA:373
HP:0011729	Abnormality of joint mobility	55612	FERMT1	ORPHA:2908
HP:0011729	Abnormality of joint mobility	3977	LIFR	ORPHA:3206
HP:0011729	Abnormality of joint mobility	23483	TGDS	ORPHA:1388
HP:0011729	Abnormality of joint mobility	2260	FGFR1	OMIM:166250
HP:0011729	Abnormality of joint mobility	7140	TNNT3	ORPHA:1146
HP:0011729	Abnormality of joint mobility	7169	TPM2	ORPHA:1146
HP:0011729	Abnormality of joint mobility	7136	TNNI2	ORPHA:1146
HP:0011729	Abnormality of joint mobility	7136	TNNI2	OMIM:601680
HP:0011729	Abnormality of joint mobility	4604	MYBPC1	ORPHA:1146
HP:0011729	Abnormality of joint mobility	6885	MAP3K7	ORPHA:1826
HP:0011729	Abnormality of joint mobility	117581	TWIST2	ORPHA:920
HP:0011729	Abnormality of joint mobility	64324	NSD1	ORPHA:3447
HP:0011729	Abnormality of joint mobility	8726	EED	ORPHA:3447
HP:0011729	Abnormality of joint mobility	23512	SUZ12	ORPHA:3447
HP:0011729	Abnormality of joint mobility	2146	EZH2	ORPHA:3447
HP:0011729	Abnormality of joint mobility	1723	DHODH	ORPHA:246
HP:0011729	Abnormality of joint mobility	257	ALX3	ORPHA:391474
HP:0011729	Abnormality of joint mobility	3239	HOXD13	OMIM:186300
HP:0011729	Abnormality of joint mobility	3239	HOXD13	ORPHA:93406
HP:0011729	Abnormality of joint mobility	54903	MKS1	OMIM:249000
HP:0011729	Abnormality of joint mobility	91252	SLC39A13	OMIM:612350
HP:0011729	Abnormality of joint mobility	22930	RAB3GAP1	OMIM:619420
HP:0011729	Abnormality of joint mobility	7046	TGFBR1	ORPHA:60030
HP:0011729	Abnormality of joint mobility	10526	IPO8	ORPHA:60030
HP:0011729	Abnormality of joint mobility	7048	TGFBR2	ORPHA:60030
HP:0011729	Abnormality of joint mobility	3897	L1CAM	ORPHA:2466
HP:0011729	Abnormality of joint mobility	2245	FGD1	ORPHA:915
HP:0011729	Abnormality of joint mobility	2200	FBN1	ORPHA:2462
HP:0011729	Abnormality of joint mobility	2201	FBN2	ORPHA:115
HP:0011729	Abnormality of joint mobility	7227	TRPS1	ORPHA:77258
HP:0011729	Abnormality of joint mobility	4088	SMAD3	ORPHA:284984
HP:0011729	Abnormality of joint mobility	27238	GPKOW	ORPHA:2570
HP:0011729	Abnormality of joint mobility	10466	COG5	ORPHA:263487
HP:0011729	Abnormality of joint mobility	55315	SLC29A3	OMIM:602782
HP:0011729	Abnormality of joint mobility	23102	TBC1D2B	OMIM:619323
HP:0011729	Abnormality of joint mobility	2068	ERCC2	OMIM:610756
HP:0011729	Abnormality of joint mobility	2068	ERCC2	ORPHA:1466
HP:0011729	Abnormality of joint mobility	51114	ZDHHC9	ORPHA:776
HP:0011729	Abnormality of joint mobility	65109	UPF3B	ORPHA:776
HP:0011729	Abnormality of joint mobility	9968	MED12	ORPHA:776
HP:0011729	Abnormality of joint mobility	2067	ERCC1	OMIM:610758
HP:0011729	Abnormality of joint mobility	2067	ERCC1	ORPHA:1466
HP:0011729	Abnormality of joint mobility	114548	NLRP3	ORPHA:575
HP:0011729	Abnormality of joint mobility	2074	ERCC6	ORPHA:1466
HP:0011729	Abnormality of joint mobility	2073	ERCC5	ORPHA:1466
HP:0011729	Abnormality of joint mobility	134701	RIPPLY2	ORPHA:2311
HP:0011729	Abnormality of joint mobility	10683	DLL3	ORPHA:2311
HP:0011729	Abnormality of joint mobility	3955	LFNG	ORPHA:2311
HP:0011729	Abnormality of joint mobility	84667	HES7	ORPHA:2311
HP:0011729	Abnormality of joint mobility	145873	MESP2	ORPHA:2311
HP:0011729	Abnormality of joint mobility	81620	CDT1	ORPHA:2554
HP:0011729	Abnormality of joint mobility	5000	ORC4	ORPHA:2554
HP:0011729	Abnormality of joint mobility	23594	ORC6	ORPHA:2554
HP:0011729	Abnormality of joint mobility	8318	CDC45	ORPHA:2554
HP:0011729	Abnormality of joint mobility	990	CDC6	ORPHA:2554
HP:0011729	Abnormality of joint mobility	4998	ORC1	ORPHA:2554
HP:0011729	Abnormality of joint mobility	51053	GMNN	ORPHA:2554
HP:0011729	Abnormality of joint mobility	8260	NAA10	ORPHA:568
HP:0011729	Abnormality of joint mobility	54880	BCOR	ORPHA:568
HP:0011729	Abnormality of joint mobility	64327	LMBR1	ORPHA:93405
HP:0011729	Abnormality of joint mobility	6469	SHH	ORPHA:93405
HP:0011729	Abnormality of joint mobility	4927	NUP88	ORPHA:994
HP:0011729	Abnormality of joint mobility	7846	TUBA1A	ORPHA:994
HP:0011729	Abnormality of joint mobility	4654	MYOD1	ORPHA:994
HP:0011729	Abnormality of joint mobility	5913	RAPSN	ORPHA:994
HP:0011729	Abnormality of joint mobility	6572	SLC18A3	ORPHA:994
HP:0011729	Abnormality of joint mobility	285489	DOK7	ORPHA:994
HP:0011729	Abnormality of joint mobility	3914	LAMB3	OMIM:226650
HP:0011729	Abnormality of joint mobility	9150	CTDP1	ORPHA:48431
HP:0011729	Abnormality of joint mobility	8092	ALX1	ORPHA:306542
HP:0011729	Abnormality of joint mobility	29895	MYL11	OMIM:619110
HP:0011729	Abnormality of joint mobility	64840	PORCN	ORPHA:2092
HP:0011729	Abnormality of joint mobility	23443	SLC35A3	OMIM:615553
HP:0011729	Abnormality of joint mobility	285590	SH3PXD2B	ORPHA:137834
HP:0011729	Abnormality of joint mobility	25914	RTTN	ORPHA:468631
HP:0011729	Abnormality of joint mobility	9935	MAFB	ORPHA:2774
HP:0011729	Abnormality of joint mobility	28952	CCDC22	OMIM:300963
HP:0011729	Abnormality of joint mobility	8450	CUL4B	ORPHA:85293
HP:0011729	Abnormality of joint mobility	1303	COL12A1	ORPHA:610
HP:0011729	Abnormality of joint mobility	1291	COL6A1	ORPHA:610
HP:0011729	Abnormality of joint mobility	1291	COL6A1	OMIM:158810
HP:0011729	Abnormality of joint mobility	1292	COL6A2	ORPHA:610
HP:0011729	Abnormality of joint mobility	1292	COL6A2	OMIM:158810
HP:0011729	Abnormality of joint mobility	1293	COL6A3	ORPHA:610
HP:0011729	Abnormality of joint mobility	1293	COL6A3	OMIM:158810
HP:0011729	Abnormality of joint mobility	26092	TOR1AIP1	OMIM:617072
HP:0011729	Abnormality of joint mobility	8242	KDM5C	ORPHA:85279
HP:0011729	Abnormality of joint mobility	59341	TRPV4	ORPHA:2635
HP:0011729	Abnormality of joint mobility	2261	FGFR3	ORPHA:85164
HP:0011729	Abnormality of joint mobility	4000	LMNA	ORPHA:1662
HP:0011729	Abnormality of joint mobility	10269	ZMPSTE24	ORPHA:1662
HP:0011729	Abnormality of joint mobility	1146	CHRNG	ORPHA:2990
HP:0011729	Abnormality of joint mobility	23522	KAT6B	ORPHA:3047
HP:0011729	Abnormality of joint mobility	26123	TCTN3	ORPHA:2753
HP:0011729	Abnormality of joint mobility	64131	XYLT1	ORPHA:1425
HP:0011729	Abnormality of joint mobility	124583	CANT1	ORPHA:1425
HP:0011729	Abnormality of joint mobility	55790	CSGALNACT1	ORPHA:1425
HP:0011729	Abnormality of joint mobility	23529	CLCF1	ORPHA:1545
HP:0011729	Abnormality of joint mobility	9244	CRLF1	ORPHA:1545
HP:0011729	Abnormality of joint mobility	51002	TPRKB	ORPHA:2065
HP:0011729	Abnormality of joint mobility	84942	WDR73	ORPHA:2065
HP:0011729	Abnormality of joint mobility	55644	OSGEP	ORPHA:2065
HP:0011729	Abnormality of joint mobility	57122	NUP107	ORPHA:2065
HP:0011729	Abnormality of joint mobility	10785	WDR4	ORPHA:2065
HP:0011729	Abnormality of joint mobility	55746	NUP133	ORPHA:2065
HP:0011729	Abnormality of joint mobility	112858	TP53RK	ORPHA:2065
HP:0011729	Abnormality of joint mobility	8270	LAGE3	ORPHA:2065
HP:0011729	Abnormality of joint mobility	5696	PSMB8	OMIM:256040
HP:0011729	Abnormality of joint mobility	56916	SMARCAD1	ORPHA:1658
HP:0001511	Intrauterine growth retardation	7528	YY1	ORPHA:506358
HP:0001511	Intrauterine growth retardation	7528	YY1	OMIM:617557
HP:0001511	Intrauterine growth retardation	3651	PDX1	OMIM:260370
HP:0001511	Intrauterine growth retardation	3651	PDX1	ORPHA:552
HP:0001511	Intrauterine growth retardation	3651	PDX1	ORPHA:99885
HP:0001511	Intrauterine growth retardation	2218	FKTN	ORPHA:272
HP:0001511	Intrauterine growth retardation	54539	NDUFB11	ORPHA:2609
HP:0001511	Intrauterine growth retardation	54539	NDUFB11	OMIM:301021
HP:0001511	Intrauterine growth retardation	25915	NDUFAF3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	51103	NDUFAF1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	91942	NDUFAF2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	51300	TIMMDC1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4716	NDUFB10	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4716	NDUFB10	OMIM:619003
HP:0001511	Intrauterine growth retardation	4723	NDUFV1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	55572	FOXRED1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	284184	NDUFAF8	ORPHA:2609
HP:0001511	Intrauterine growth retardation	284184	NDUFAF8	OMIM:618776
HP:0001511	Intrauterine growth retardation	55863	TMEM126B	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4535	MT-ND1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4537	MT-ND3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4729	NDUFV2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4694	NDUFA1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4720	NDUFS2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4724	NDUFS4	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4726	NDUFS6	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4728	NDUFS8	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4722	NDUFS3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	79133	NDUFAF5	ORPHA:2609
HP:0001511	Intrauterine growth retardation	79133	NDUFAF5	OMIM:618238
HP:0001511	Intrauterine growth retardation	126328	NDUFA11	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4709	NDUFB3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4709	NDUFB3	OMIM:618246
HP:0001511	Intrauterine growth retardation	80224	NUBPL	ORPHA:2609
HP:0001511	Intrauterine growth retardation	29078	NDUFAF4	ORPHA:2609
HP:0001511	Intrauterine growth retardation	29078	NDUFAF4	OMIM:618237
HP:0001511	Intrauterine growth retardation	374291	NDUFS7	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4700	NDUFA6	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4700	NDUFA6	OMIM:618253
HP:0001511	Intrauterine growth retardation	4536	MT-ND2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4719	NDUFS1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4715	NDUFB9	ORPHA:2609
HP:0001511	Intrauterine growth retardation	23019	CNOT1	OMIM:618500
HP:0001511	Intrauterine growth retardation	23019	CNOT1	ORPHA:556955
HP:0001511	Intrauterine growth retardation	23019	CNOT1	OMIM:619033
HP:0001511	Intrauterine growth retardation	5723	PSPH	OMIM:614023
HP:0001511	Intrauterine growth retardation	201595	STT3B	OMIM:615597
HP:0001511	Intrauterine growth retardation	201595	STT3B	ORPHA:370924
HP:0001511	Intrauterine growth retardation	60684	TRAPPC11	OMIM:615356
HP:0001511	Intrauterine growth retardation	9820	CUL7	ORPHA:2616
HP:0001511	Intrauterine growth retardation	9820	CUL7	OMIM:273750
HP:0001511	Intrauterine growth retardation	23363	OBSL1	ORPHA:2616
HP:0001511	Intrauterine growth retardation	23363	OBSL1	OMIM:612921
HP:0001511	Intrauterine growth retardation	83987	CCDC8	ORPHA:2616
HP:0001511	Intrauterine growth retardation	55627	SMPD4	OMIM:618622
HP:0001511	Intrauterine growth retardation	4897	NRCAM	OMIM:619833
HP:0001511	Intrauterine growth retardation	3703	STT3A	OMIM:619714
HP:0001511	Intrauterine growth retardation	84942	WDR73	OMIM:251300
HP:0001511	Intrauterine growth retardation	84942	WDR73	ORPHA:2065
HP:0001511	Intrauterine growth retardation	1736	DKC1	OMIM:305000
HP:0001511	Intrauterine growth retardation	1736	DKC1	ORPHA:3322
HP:0001511	Intrauterine growth retardation	1736	DKC1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	5830	PEX5	OMIM:214110
HP:0001511	Intrauterine growth retardation	64220	STRA6	OMIM:601186
HP:0001511	Intrauterine growth retardation	64220	STRA6	ORPHA:2470
HP:0001511	Intrauterine growth retardation	1161	ERCC8	ORPHA:90322
HP:0001511	Intrauterine growth retardation	1161	ERCC8	OMIM:216400
HP:0001511	Intrauterine growth retardation	2067	ERCC1	ORPHA:90322
HP:0001511	Intrauterine growth retardation	2067	ERCC1	OMIM:610758
HP:0001511	Intrauterine growth retardation	2067	ERCC1	ORPHA:1466
HP:0001511	Intrauterine growth retardation	2074	ERCC6	ORPHA:90322
HP:0001511	Intrauterine growth retardation	2074	ERCC6	OMIM:133540
HP:0001511	Intrauterine growth retardation	2074	ERCC6	ORPHA:1466
HP:0001511	Intrauterine growth retardation	197131	UBR1	OMIM:243800
HP:0001511	Intrauterine growth retardation	197131	UBR1	ORPHA:2315
HP:0001511	Intrauterine growth retardation	617	BCS1L	OMIM:603358
HP:0001511	Intrauterine growth retardation	617	BCS1L	ORPHA:53693
HP:0001511	Intrauterine growth retardation	3481	IGF2	ORPHA:231144
HP:0001511	Intrauterine growth retardation	3481	IGF2	OMIM:180860
HP:0001511	Intrauterine growth retardation	3481	IGF2	ORPHA:397590
HP:0001511	Intrauterine growth retardation	283120	H19	ORPHA:231144
HP:0001511	Intrauterine growth retardation	2073	ERCC5	OMIM:616570
HP:0001511	Intrauterine growth retardation	2073	ERCC5	ORPHA:1466
HP:0001511	Intrauterine growth retardation	9578	CDC42BPB	OMIM:619841
HP:0001511	Intrauterine growth retardation	80816	ASXL3	OMIM:615485
HP:0001511	Intrauterine growth retardation	55159	RFWD3	OMIM:617784
HP:0001511	Intrauterine growth retardation	55159	RFWD3	ORPHA:84
HP:0001511	Intrauterine growth retardation	8239	USP9X	OMIM:300919
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:436144
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:85173
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	OMIM:614732
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:397590
HP:0001511	Intrauterine growth retardation	126792	B3GALT6	ORPHA:2725
HP:0001511	Intrauterine growth retardation	16	AARS1	OMIM:616339
HP:0001511	Intrauterine growth retardation	6595	SMARCA2	ORPHA:2728
HP:0001511	Intrauterine growth retardation	6595	SMARCA2	OMIM:601358
HP:0001511	Intrauterine growth retardation	3508	IGHMBP2	OMIM:604320
HP:0001511	Intrauterine growth retardation	55636	CHD7	ORPHA:138
HP:0001511	Intrauterine growth retardation	9723	SEMA3E	ORPHA:138
HP:0001511	Intrauterine growth retardation	29957	SLC25A24	ORPHA:2963
HP:0001511	Intrauterine growth retardation	29957	SLC25A24	OMIM:612289
HP:0001511	Intrauterine growth retardation	2188	FANCF	OMIM:603467
HP:0001511	Intrauterine growth retardation	2188	FANCF	ORPHA:84
HP:0001511	Intrauterine growth retardation	2260	FGFR1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2260	FGFR1	ORPHA:2117
HP:0001511	Intrauterine growth retardation	28514	DLL1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2253	FGF8	ORPHA:280200
HP:0001511	Intrauterine growth retardation	6496	SIX3	ORPHA:280200
HP:0001511	Intrauterine growth retardation	7050	TGIF1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	4838	NODAL	ORPHA:280200
HP:0001511	Intrauterine growth retardation	4838	NODAL	OMIM:270100
HP:0001511	Intrauterine growth retardation	6469	SHH	ORPHA:280200
HP:0001511	Intrauterine growth retardation	51684	SUFU	ORPHA:280200
HP:0001511	Intrauterine growth retardation	7546	ZIC2	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2619	GAS1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	84976	DISP1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2736	GLI2	ORPHA:280200
HP:0001511	Intrauterine growth retardation	8928	FOXH1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	5727	PTCH1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	50937	CDON	ORPHA:280200
HP:0001511	Intrauterine growth retardation	103	ADAR	OMIM:615010
HP:0001511	Intrauterine growth retardation	9692	PRORP	OMIM:619737
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	ORPHA:2834
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	OMIM:278250
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	OMIM:219200
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	ORPHA:357074
HP:0001511	Intrauterine growth retardation	5155	PDGFB	ORPHA:1980
HP:0001511	Intrauterine growth retardation	9213	XPR1	ORPHA:1980
HP:0001511	Intrauterine growth retardation	5159	PDGFRB	ORPHA:1980
HP:0001511	Intrauterine growth retardation	57462	MYORG	ORPHA:1980
HP:0001511	Intrauterine growth retardation	6575	SLC20A2	ORPHA:1980
HP:0001511	Intrauterine growth retardation	58494	JAM2	ORPHA:1980
HP:0001511	Intrauterine growth retardation	23184	MESD	OMIM:618644
HP:0001511	Intrauterine growth retardation	2626	GATA4	ORPHA:251071
HP:0001511	Intrauterine growth retardation	2626	GATA4	ORPHA:3303
HP:0001511	Intrauterine growth retardation	7020	TFAP2A	OMIM:113620
HP:0001511	Intrauterine growth retardation	7020	TFAP2A	ORPHA:1297
HP:0001511	Intrauterine growth retardation	5566	PRKACA	ORPHA:289
HP:0001511	Intrauterine growth retardation	5567	PRKACB	ORPHA:289
HP:0001511	Intrauterine growth retardation	2735	GLI1	ORPHA:289
HP:0001511	Intrauterine growth retardation	2121	EVC	ORPHA:289
HP:0001511	Intrauterine growth retardation	51626	DYNC2LI1	ORPHA:289
HP:0001511	Intrauterine growth retardation	132884	EVC2	ORPHA:289
HP:0001511	Intrauterine growth retardation	171023	ASXL1	ORPHA:97297
HP:0001511	Intrauterine growth retardation	171023	ASXL1	OMIM:605039
HP:0001511	Intrauterine growth retardation	10815	CPLX1	ORPHA:280
HP:0001511	Intrauterine growth retardation	10815	CPLX1	OMIM:194190
HP:0001511	Intrauterine growth retardation	54872	PIGG	ORPHA:280
HP:0001511	Intrauterine growth retardation	54872	PIGG	ORPHA:488635
HP:0001511	Intrauterine growth retardation	54872	PIGG	OMIM:616917
HP:0001511	Intrauterine growth retardation	7469	NELFA	ORPHA:280
HP:0001511	Intrauterine growth retardation	1487	CTBP1	ORPHA:280
HP:0001511	Intrauterine growth retardation	1487	CTBP1	OMIM:194190
HP:0001511	Intrauterine growth retardation	3954	LETM1	ORPHA:280
HP:0001511	Intrauterine growth retardation	3954	LETM1	OMIM:194190
HP:0001511	Intrauterine growth retardation	7468	NSD2	ORPHA:280
HP:0001511	Intrauterine growth retardation	7468	NSD2	OMIM:619695
HP:0001511	Intrauterine growth retardation	7468	NSD2	OMIM:194190
HP:0001511	Intrauterine growth retardation	22872	SEC31A	OMIM:618651
HP:0001511	Intrauterine growth retardation	54968	TMEM70	OMIM:614052
HP:0001511	Intrauterine growth retardation	54968	TMEM70	ORPHA:1194
HP:0001511	Intrauterine growth retardation	1501	CTNND2	ORPHA:281
HP:0001511	Intrauterine growth retardation	9037	SEMA5A	ORPHA:281
HP:0001511	Intrauterine growth retardation	7386	UQCRFS1	OMIM:618775
HP:0001511	Intrauterine growth retardation	5528	PPP2R5D	OMIM:616355
HP:0001511	Intrauterine growth retardation	4297	KMT2A	ORPHA:319182
HP:0001511	Intrauterine growth retardation	4297	KMT2A	OMIM:605130
HP:0001511	Intrauterine growth retardation	4174	MCM5	OMIM:617564
HP:0001511	Intrauterine growth retardation	5073	PARN	OMIM:616353
HP:0001511	Intrauterine growth retardation	5073	PARN	ORPHA:3322
HP:0001511	Intrauterine growth retardation	5073	PARN	ORPHA:1775
HP:0001511	Intrauterine growth retardation	833	CARS1	OMIM:618891
HP:0001511	Intrauterine growth retardation	833	CARS1	ORPHA:33364
HP:0001511	Intrauterine growth retardation	8241	RBM10	OMIM:311900
HP:0001511	Intrauterine growth retardation	8241	RBM10	ORPHA:2886
HP:0001511	Intrauterine growth retardation	3981	LIG4	ORPHA:235
HP:0001511	Intrauterine growth retardation	54888	NSUN2	ORPHA:235
HP:0001511	Intrauterine growth retardation	1186	CLCN7	OMIM:618541
HP:0001511	Intrauterine growth retardation	3572	IL6ST	OMIM:619751
HP:0001511	Intrauterine growth retardation	7862	BRPF1	OMIM:617333
HP:0001511	Intrauterine growth retardation	23126	POGZ	OMIM:616364
HP:0001511	Intrauterine growth retardation	54914	FOCAD	OMIM:619991
HP:0001511	Intrauterine growth retardation	8558	CDK10	OMIM:617694
HP:0001511	Intrauterine growth retardation	51633	OTUD6B	OMIM:617452
HP:0001511	Intrauterine growth retardation	51633	OTUD6B	ORPHA:505237
HP:0001511	Intrauterine growth retardation	150468	CKAP2L	OMIM:272440
HP:0001511	Intrauterine growth retardation	150468	CKAP2L	ORPHA:3255
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	ORPHA:464311
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	ORPHA:268261
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	OMIM:614104
HP:0001511	Intrauterine growth retardation	79991	STN1	OMIM:617341
HP:0001511	Intrauterine growth retardation	7750	ZMYM2	OMIM:619522
HP:0001511	Intrauterine growth retardation	3800	KIF5C	OMIM:615282
HP:0001511	Intrauterine growth retardation	59336	PRDM13	OMIM:619761
HP:0001511	Intrauterine growth retardation	59336	PRDM13	OMIM:619909
HP:0001511	Intrauterine growth retardation	50485	SMARCAL1	ORPHA:1830
HP:0001511	Intrauterine growth retardation	50485	SMARCAL1	OMIM:242900
HP:0001511	Intrauterine growth retardation	9928	KIF14	OMIM:616258
HP:0001511	Intrauterine growth retardation	9928	KIF14	OMIM:617914
HP:0001511	Intrauterine growth retardation	641	BLM	OMIM:210900
HP:0001511	Intrauterine growth retardation	641	BLM	ORPHA:125
HP:0001511	Intrauterine growth retardation	22	ABCB7	ORPHA:2802
HP:0001511	Intrauterine growth retardation	124583	CANT1	OMIM:251450
HP:0001511	Intrauterine growth retardation	56975	FAM20C	ORPHA:1832
HP:0001511	Intrauterine growth retardation	675	BRCA2	OMIM:605724
HP:0001511	Intrauterine growth retardation	675	BRCA2	ORPHA:84
HP:0001511	Intrauterine growth retardation	55120	FANCL	OMIM:614083
HP:0001511	Intrauterine growth retardation	55120	FANCL	ORPHA:84
HP:0001511	Intrauterine growth retardation	23483	TGDS	OMIM:616145
HP:0001511	Intrauterine growth retardation	10463	SLC30A9	OMIM:617595
HP:0001511	Intrauterine growth retardation	7994	KAT6A	OMIM:616268
HP:0001511	Intrauterine growth retardation	2006	ELN	ORPHA:90348
HP:0001511	Intrauterine growth retardation	2006	ELN	OMIM:194050
HP:0001511	Intrauterine growth retardation	10516	FBLN5	ORPHA:90348
HP:0001511	Intrauterine growth retardation	10516	FBLN5	ORPHA:90349
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	ORPHA:90348
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	OMIM:219150
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	OMIM:616603
HP:0001511	Intrauterine growth retardation	25836	NIPBL	OMIM:122470
HP:0001511	Intrauterine growth retardation	25836	NIPBL	ORPHA:199
HP:0001511	Intrauterine growth retardation	2720	GLB1	OMIM:230500
HP:0001511	Intrauterine growth retardation	2720	GLB1	ORPHA:79255
HP:0001511	Intrauterine growth retardation	4052	LTBP1	ORPHA:90349
HP:0001511	Intrauterine growth retardation	30008	EFEMP2	ORPHA:90349
HP:0001511	Intrauterine growth retardation	404672	GTF2H5	ORPHA:33364
HP:0001511	Intrauterine growth retardation	404672	GTF2H5	OMIM:616395
HP:0001511	Intrauterine growth retardation	2068	ERCC2	ORPHA:33364
HP:0001511	Intrauterine growth retardation	2068	ERCC2	OMIM:610756
HP:0001511	Intrauterine growth retardation	2068	ERCC2	ORPHA:1466
HP:0001511	Intrauterine growth retardation	7737	RNF113A	ORPHA:33364
HP:0001511	Intrauterine growth retardation	7737	RNF113A	OMIM:300953
HP:0001511	Intrauterine growth retardation	136647	MPLKIP	ORPHA:33364
HP:0001511	Intrauterine growth retardation	6897	TARS1	ORPHA:33364
HP:0001511	Intrauterine growth retardation	2071	ERCC3	ORPHA:33364
HP:0001511	Intrauterine growth retardation	54361	WNT4	OMIM:611812
HP:0001511	Intrauterine growth retardation	2778	GNAS	ORPHA:79445
HP:0001511	Intrauterine growth retardation	79087	ALG12	ORPHA:79324
HP:0001511	Intrauterine growth retardation	79053	ALG8	ORPHA:79325
HP:0001511	Intrauterine growth retardation	79053	ALG8	OMIM:608104
HP:0001511	Intrauterine growth retardation	9896	FIG4	OMIM:216340
HP:0001511	Intrauterine growth retardation	81570	CLPB	OMIM:616271
HP:0001511	Intrauterine growth retardation	54903	MKS1	OMIM:249000
HP:0001511	Intrauterine growth retardation	8621	CDK13	OMIM:617360
HP:0001511	Intrauterine growth retardation	54101	RIPK4	OMIM:263650
HP:0001511	Intrauterine growth retardation	60529	ALX4	ORPHA:228390
HP:0001511	Intrauterine growth retardation	60529	ALX4	OMIM:613451
HP:0001511	Intrauterine growth retardation	51117	COQ4	OMIM:616276
HP:0001511	Intrauterine growth retardation	29968	PSAT1	OMIM:616038
HP:0001511	Intrauterine growth retardation	29968	PSAT1	ORPHA:284417
HP:0001511	Intrauterine growth retardation	5426	POLE	OMIM:618336
HP:0001511	Intrauterine growth retardation	5426	POLE	ORPHA:85173
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:552
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:99885
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:99886
HP:0001511	Intrauterine growth retardation	8462	KLF11	ORPHA:552
HP:0001511	Intrauterine growth retardation	2645	GCK	ORPHA:552
HP:0001511	Intrauterine growth retardation	2645	GCK	ORPHA:99885
HP:0001511	Intrauterine growth retardation	2645	GCK	OMIM:606176
HP:0001511	Intrauterine growth retardation	26060	APPL1	ORPHA:552
HP:0001511	Intrauterine growth retardation	640	BLK	ORPHA:552
HP:0001511	Intrauterine growth retardation	1056	CEL	ORPHA:552
HP:0001511	Intrauterine growth retardation	4760	NEUROD1	ORPHA:552
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:552
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:99885
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:99886
HP:0001511	Intrauterine growth retardation	5078	PAX4	ORPHA:552
HP:0001511	Intrauterine growth retardation	3172	HNF4A	ORPHA:552
HP:0001511	Intrauterine growth retardation	6927	HNF1A	ORPHA:552
HP:0001511	Intrauterine growth retardation	3630	INS	ORPHA:552
HP:0001511	Intrauterine growth retardation	3630	INS	ORPHA:99885
HP:0001511	Intrauterine growth retardation	3630	INS	OMIM:613370
HP:0001511	Intrauterine growth retardation	3480	IGF1R	ORPHA:73273
HP:0001511	Intrauterine growth retardation	3480	IGF1R	OMIM:270450
HP:0001511	Intrauterine growth retardation	2737	GLI3	ORPHA:672
HP:0001511	Intrauterine growth retardation	2737	GLI3	OMIM:146510
HP:0001511	Intrauterine growth retardation	3479	IGF1	ORPHA:73272
HP:0001511	Intrauterine growth retardation	3479	IGF1	OMIM:608747
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254531
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254525
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254528
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:96184
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:96334
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254531
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254525
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254528
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:96184
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:96334
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254531
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254525
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254528
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:96184
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:96334
HP:0001511	Intrauterine growth retardation	26277	TINF2	OMIM:268130
HP:0001511	Intrauterine growth retardation	26277	TINF2	OMIM:613990
HP:0001511	Intrauterine growth retardation	26277	TINF2	ORPHA:3322
HP:0001511	Intrauterine growth retardation	26277	TINF2	ORPHA:1775
HP:0001511	Intrauterine growth retardation	51750	RTEL1	OMIM:615190
HP:0001511	Intrauterine growth retardation	51750	RTEL1	ORPHA:3322
HP:0001511	Intrauterine growth retardation	51750	RTEL1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	6134	RPL10	OMIM:300998
HP:0001511	Intrauterine growth retardation	79879	CCDC134	OMIM:619795
HP:0001511	Intrauterine growth retardation	10466	COG5	ORPHA:263487
HP:0001511	Intrauterine growth retardation	10785	WDR4	OMIM:618346
HP:0001511	Intrauterine growth retardation	10785	WDR4	OMIM:618347
HP:0001511	Intrauterine growth retardation	10785	WDR4	ORPHA:2065
HP:0001511	Intrauterine growth retardation	54892	NCAPG2	OMIM:618460
HP:0001511	Intrauterine growth retardation	498	ATP5F1A	OMIM:616045
HP:0001511	Intrauterine growth retardation	4000	LMNA	OMIM:619793
HP:0001511	Intrauterine growth retardation	4000	LMNA	ORPHA:1662
HP:0001511	Intrauterine growth retardation	2187	FANCB	OMIM:300514
HP:0001511	Intrauterine growth retardation	2187	FANCB	ORPHA:84
HP:0001511	Intrauterine growth retardation	2187	FANCB	ORPHA:3412
HP:0001511	Intrauterine growth retardation	85476	GFM1	OMIM:609060
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	ORPHA:353298
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:226960
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:210710
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:616651
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	ORPHA:2636
HP:0001511	Intrauterine growth retardation	10102	TSFM	OMIM:610505
HP:0001511	Intrauterine growth retardation	7681	MKRN3	OMIM:176270
HP:0001511	Intrauterine growth retardation	3653	IPW	OMIM:176270
HP:0001511	Intrauterine growth retardation	54551	MAGEL2	OMIM:176270
HP:0001511	Intrauterine growth retardation	791114	PWRN1	OMIM:176270
HP:0001511	Intrauterine growth retardation	100033413	SNORD116-1	OMIM:176270
HP:0001511	Intrauterine growth retardation	8924	HERC2	OMIM:176270
HP:0001511	Intrauterine growth retardation	145624	PWAR1	OMIM:176270
HP:0001511	Intrauterine growth retardation	23742	NPAP1	OMIM:176270
HP:0001511	Intrauterine growth retardation	338433	SNORD115-1	OMIM:176270
HP:0001511	Intrauterine growth retardation	2627	GATA6	OMIM:600001
HP:0001511	Intrauterine growth retardation	2627	GATA6	ORPHA:2255
HP:0001511	Intrauterine growth retardation	2627	GATA6	ORPHA:3303
HP:0001511	Intrauterine growth retardation	5631	PRPS1	ORPHA:423479
HP:0001511	Intrauterine growth retardation	10733	PLK4	OMIM:616171
HP:0001511	Intrauterine growth retardation	10733	PLK4	ORPHA:808
HP:0001511	Intrauterine growth retardation	10733	PLK4	ORPHA:2518
HP:0001511	Intrauterine growth retardation	91754	NEK9	OMIM:617022
HP:0001511	Intrauterine growth retardation	221496	LEMD2	OMIM:619322
HP:0001511	Intrauterine growth retardation	23395	LARS2	OMIM:617021
HP:0001511	Intrauterine growth retardation	1062	CENPE	OMIM:616051
HP:0001511	Intrauterine growth retardation	1062	CENPE	ORPHA:808
HP:0001511	Intrauterine growth retardation	6651	SON	OMIM:617140
HP:0001511	Intrauterine growth retardation	6651	SON	ORPHA:500150
HP:0001511	Intrauterine growth retardation	5649	RELN	ORPHA:89844
HP:0001511	Intrauterine growth retardation	10300	KATNB1	ORPHA:89844
HP:0001511	Intrauterine growth retardation	54820	NDE1	ORPHA:89844
HP:0001511	Intrauterine growth retardation	54820	NDE1	ORPHA:2177
HP:0001511	Intrauterine growth retardation	51163	DBR1	OMIM:619441
HP:0001511	Intrauterine growth retardation	8882	ZPR1	OMIM:619321
HP:0001511	Intrauterine growth retardation	55215	FANCI	OMIM:609053
HP:0001511	Intrauterine growth retardation	55215	FANCI	ORPHA:84
HP:0001511	Intrauterine growth retardation	83990	BRIP1	OMIM:609054
HP:0001511	Intrauterine growth retardation	83990	BRIP1	ORPHA:84
HP:0001511	Intrauterine growth retardation	2033	EP300	ORPHA:353284
HP:0001511	Intrauterine growth retardation	6774	STAT3	ORPHA:99885
HP:0001511	Intrauterine growth retardation	346171	ZFP57	ORPHA:99886
HP:0001511	Intrauterine growth retardation	346171	ZFP57	OMIM:601410
HP:0001511	Intrauterine growth retardation	57061	HYMAI	ORPHA:99886
HP:0001511	Intrauterine growth retardation	57061	HYMAI	ORPHA:96191
HP:0001511	Intrauterine growth retardation	57061	HYMAI	OMIM:601410
HP:0001511	Intrauterine growth retardation	5325	PLAGL1	ORPHA:99886
HP:0001511	Intrauterine growth retardation	5325	PLAGL1	ORPHA:96191
HP:0001511	Intrauterine growth retardation	79068	FTO	OMIM:612938
HP:0001511	Intrauterine growth retardation	3417	IDH1	ORPHA:99646
HP:0001511	Intrauterine growth retardation	473	RERE	ORPHA:494344
HP:0001511	Intrauterine growth retardation	473	RERE	OMIM:616975
HP:0001511	Intrauterine growth retardation	10940	POP1	OMIM:617396
HP:0001511	Intrauterine growth retardation	84340	GFM2	ORPHA:565624
HP:0001511	Intrauterine growth retardation	84340	GFM2	OMIM:618397
HP:0001511	Intrauterine growth retardation	63925	ZNF335	OMIM:615095
HP:0001511	Intrauterine growth retardation	2530	FUT8	OMIM:618005
HP:0001511	Intrauterine growth retardation	2334	AFF2	OMIM:309548
HP:0001511	Intrauterine growth retardation	2334	AFF2	ORPHA:100973
HP:0001511	Intrauterine growth retardation	4998	ORC1	OMIM:224690
HP:0001511	Intrauterine growth retardation	4998	ORC1	ORPHA:2554
HP:0001511	Intrauterine growth retardation	54496	PRMT7	OMIM:617157
HP:0001511	Intrauterine growth retardation	50619	DEF6	OMIM:619573
HP:0001511	Intrauterine growth retardation	7019	TFAM	OMIM:617156
HP:0001511	Intrauterine growth retardation	8260	NAA10	OMIM:300855
HP:0001511	Intrauterine growth retardation	3643	INSR	OMIM:246200
HP:0001511	Intrauterine growth retardation	3643	INSR	ORPHA:769
HP:0001511	Intrauterine growth retardation	4705	NDUFA10	OMIM:618243
HP:0001511	Intrauterine growth retardation	5831	PYCR1	OMIM:612940
HP:0001511	Intrauterine growth retardation	5831	PYCR1	OMIM:614438
HP:0001511	Intrauterine growth retardation	3376	IARS1	ORPHA:541423
HP:0001511	Intrauterine growth retardation	3376	IARS1	OMIM:617093
HP:0001511	Intrauterine growth retardation	1312	COMT	ORPHA:567
HP:0001511	Intrauterine growth retardation	221037	JMJD1C	ORPHA:567
HP:0001511	Intrauterine growth retardation	2812	GP1BB	ORPHA:567
HP:0001511	Intrauterine growth retardation	6239	RREB1	ORPHA:567
HP:0001511	Intrauterine growth retardation	6899	TBX1	ORPHA:567
HP:0001511	Intrauterine growth retardation	6899	TBX1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	7290	HIRA	ORPHA:567
HP:0001511	Intrauterine growth retardation	9632	SEC24C	ORPHA:567
HP:0001511	Intrauterine growth retardation	7353	UFD1	ORPHA:567
HP:0001511	Intrauterine growth retardation	421	ARVCF	ORPHA:567
HP:0001511	Intrauterine growth retardation	3291	HSD11B2	ORPHA:320
HP:0001511	Intrauterine growth retardation	22827	PUF60	ORPHA:508488
HP:0001511	Intrauterine growth retardation	22827	PUF60	OMIM:615583
HP:0001511	Intrauterine growth retardation	538	ATP7A	ORPHA:565
HP:0001511	Intrauterine growth retardation	538	ATP7A	OMIM:309400
HP:0001511	Intrauterine growth retardation	7703	PCGF2	OMIM:618371
HP:0001511	Intrauterine growth retardation	6045	RNF2	OMIM:619460
HP:0001511	Intrauterine growth retardation	9496	TBX4	ORPHA:261279
HP:0001511	Intrauterine growth retardation	8091	HMGA2	ORPHA:94063
HP:0001511	Intrauterine growth retardation	8091	HMGA2	ORPHA:397590
HP:0001511	Intrauterine growth retardation	8091	HMGA2	OMIM:618908
HP:0001511	Intrauterine growth retardation	23592	LEMD3	ORPHA:94063
HP:0001511	Intrauterine growth retardation	372	ARCN1	OMIM:617164
HP:0001511	Intrauterine growth retardation	10013	HDAC6	OMIM:300863
HP:0001511	Intrauterine growth retardation	10013	HDAC6	ORPHA:163966
HP:0001511	Intrauterine growth retardation	7403	KDM6A	OMIM:300867
HP:0001511	Intrauterine growth retardation	84705	GTPBP3	OMIM:616198
HP:0001511	Intrauterine growth retardation	5144	PDE4D	ORPHA:439822
HP:0001511	Intrauterine growth retardation	5144	PDE4D	OMIM:614613
HP:0001511	Intrauterine growth retardation	5144	PDE4D	ORPHA:280651
HP:0001511	Intrauterine growth retardation	6023	RMRP	OMIM:607095
HP:0001511	Intrauterine growth retardation	5000	ORC4	OMIM:613800
HP:0001511	Intrauterine growth retardation	5000	ORC4	ORPHA:2554
HP:0001511	Intrauterine growth retardation	6304	SATB1	OMIM:619229
HP:0001511	Intrauterine growth retardation	5573	PRKAR1A	OMIM:101800
HP:0001511	Intrauterine growth retardation	5573	PRKAR1A	ORPHA:280651
HP:0001511	Intrauterine growth retardation	81620	CDT1	OMIM:613804
HP:0001511	Intrauterine growth retardation	81620	CDT1	ORPHA:2554
HP:0001511	Intrauterine growth retardation	23594	ORC6	OMIM:613803
HP:0001511	Intrauterine growth retardation	23594	ORC6	ORPHA:2554
HP:0001511	Intrauterine growth retardation	4763	NF1	ORPHA:97685
HP:0001511	Intrauterine growth retardation	990	CDC6	OMIM:613805
HP:0001511	Intrauterine growth retardation	990	CDC6	ORPHA:2554
HP:0001511	Intrauterine growth retardation	4927	NUP88	ORPHA:994
HP:0001511	Intrauterine growth retardation	7846	TUBA1A	ORPHA:994
HP:0001511	Intrauterine growth retardation	4654	MYOD1	ORPHA:994
HP:0001511	Intrauterine growth retardation	4593	MUSK	ORPHA:994
HP:0001511	Intrauterine growth retardation	4593	MUSK	OMIM:208150
HP:0001511	Intrauterine growth retardation	5913	RAPSN	ORPHA:994
HP:0001511	Intrauterine growth retardation	6572	SLC18A3	ORPHA:994
HP:0001511	Intrauterine growth retardation	285489	DOK7	ORPHA:994
HP:0001511	Intrauterine growth retardation	9791	PTDSS1	OMIM:151050
HP:0001511	Intrauterine growth retardation	51241	COX16	OMIM:619355
HP:0001511	Intrauterine growth retardation	54809	SAMD9	OMIM:617053
HP:0001511	Intrauterine growth retardation	134218	DNAJC21	OMIM:617052
HP:0001511	Intrauterine growth retardation	348180	CTU2	OMIM:618142
HP:0001511	Intrauterine growth retardation	145173	B3GLCT	OMIM:261540
HP:0001511	Intrauterine growth retardation	145173	B3GLCT	ORPHA:709
HP:0001511	Intrauterine growth retardation	29927	SEC61A1	OMIM:617056
HP:0001511	Intrauterine growth retardation	6711	SPTBN1	OMIM:619475
HP:0001511	Intrauterine growth retardation	92002	CCNQ	OMIM:300707
HP:0001511	Intrauterine growth retardation	1836	SLC26A2	ORPHA:628
HP:0001511	Intrauterine growth retardation	5781	PTPN11	ORPHA:500
HP:0001511	Intrauterine growth retardation	673	BRAF	ORPHA:500
HP:0001511	Intrauterine growth retardation	5894	RAF1	ORPHA:500
HP:0001511	Intrauterine growth retardation	10283	CWC27	ORPHA:166035
HP:0001511	Intrauterine growth retardation	2887	GRB10	ORPHA:96182
HP:0001511	Intrauterine growth retardation	25839	COG4	OMIM:618150
HP:0001511	Intrauterine growth retardation	2222	FDFT1	OMIM:618156
HP:0001511	Intrauterine growth retardation	100147744	RNU7-1	OMIM:619487
HP:0001511	Intrauterine growth retardation	6872	TAF1	OMIM:300966
HP:0001511	Intrauterine growth retardation	90522	YIF1B	OMIM:619125
HP:0001511	Intrauterine growth retardation	8567	MADD	OMIM:619004
HP:0001511	Intrauterine growth retardation	8567	MADD	OMIM:619005
HP:0001511	Intrauterine growth retardation	60558	GUF1	OMIM:617065
HP:0001511	Intrauterine growth retardation	374879	ZNF699	OMIM:619488
HP:0001511	Intrauterine growth retardation	55640	FLVCR2	OMIM:225790
HP:0001511	Intrauterine growth retardation	118924	FRA10AC1	OMIM:620113
HP:0001511	Intrauterine growth retardation	7284	TUFM	OMIM:610678
HP:0001511	Intrauterine growth retardation	93587	TRMT10A	ORPHA:391408
HP:0001511	Intrauterine growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0001511	Intrauterine growth retardation	84919	PPP1R15B	OMIM:616817
HP:0001511	Intrauterine growth retardation	55252	ASXL2	OMIM:617190
HP:0001511	Intrauterine growth retardation	342035	GLDN	OMIM:617194
HP:0001511	Intrauterine growth retardation	2176	FANCC	OMIM:227645
HP:0001511	Intrauterine growth retardation	2176	FANCC	ORPHA:84
HP:0001511	Intrauterine growth retardation	2332	FMR1	ORPHA:261483
HP:0001511	Intrauterine growth retardation	84231	TRAF7	OMIM:618164
HP:0001511	Intrauterine growth retardation	1984	EIF5A	OMIM:619376
HP:0001511	Intrauterine growth retardation	51360	MBTPS2	ORPHA:85284
HP:0001511	Intrauterine growth retardation	1387	CREBBP	ORPHA:353277
HP:0001511	Intrauterine growth retardation	131118	DNAJC19	ORPHA:66634
HP:0001511	Intrauterine growth retardation	131118	DNAJC19	OMIM:610198
HP:0001511	Intrauterine growth retardation	5297	PI4KA	ORPHA:436252
HP:0001511	Intrauterine growth retardation	5297	PI4KA	ORPHA:98889
HP:0001511	Intrauterine growth retardation	57217	TTC7A	ORPHA:436252
HP:0001511	Intrauterine growth retardation	57217	TTC7A	OMIM:243150
HP:0001511	Intrauterine growth retardation	284058	KANSL1	OMIM:610443
HP:0001511	Intrauterine growth retardation	5557	PRIM1	OMIM:620005
HP:0001511	Intrauterine growth retardation	219844	HYLS1	OMIM:236680
HP:0001511	Intrauterine growth retardation	3239	HOXD13	ORPHA:887
HP:0001511	Intrauterine growth retardation	1513	CTSK	ORPHA:763
HP:0001511	Intrauterine growth retardation	116150	NUS1	OMIM:617082
HP:0001511	Intrauterine growth retardation	64432	MRPS25	OMIM:619025
HP:0001511	Intrauterine growth retardation	9652	SKIC3	ORPHA:84064
HP:0001511	Intrauterine growth retardation	9652	SKIC3	OMIM:222470
HP:0001511	Intrauterine growth retardation	6499	SKIC2	ORPHA:84064
HP:0001511	Intrauterine growth retardation	6499	SKIC2	OMIM:614602
HP:0001511	Intrauterine growth retardation	10535	RNASEH2A	OMIM:610333
HP:0001511	Intrauterine growth retardation	51002	TPRKB	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55644	OSGEP	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55644	OSGEP	OMIM:617729
HP:0001511	Intrauterine growth retardation	57122	NUP107	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55746	NUP133	ORPHA:2065
HP:0001511	Intrauterine growth retardation	112858	TP53RK	ORPHA:2065
HP:0001511	Intrauterine growth retardation	8270	LAGE3	ORPHA:2065
HP:0001511	Intrauterine growth retardation	8270	LAGE3	OMIM:301006
HP:0001511	Intrauterine growth retardation	26123	TCTN3	OMIM:614815
HP:0001511	Intrauterine growth retardation	26123	TCTN3	ORPHA:2753
HP:0001511	Intrauterine growth retardation	4713	NDUFB7	OMIM:620135
HP:0001511	Intrauterine growth retardation	64858	DCLRE1B	OMIM:620133
HP:0001511	Intrauterine growth retardation	168667	BMPER	OMIM:608022
HP:0001511	Intrauterine growth retardation	8243	SMC1A	OMIM:300590
HP:0001511	Intrauterine growth retardation	8243	SMC1A	OMIM:301044
HP:0001511	Intrauterine growth retardation	8243	SMC1A	ORPHA:199
HP:0001511	Intrauterine growth retardation	10134	BCAP31	OMIM:300475
HP:0001511	Intrauterine growth retardation	10134	BCAP31	ORPHA:369939
HP:0001511	Intrauterine growth retardation	137814	NKX2-6	ORPHA:3384
HP:0001511	Intrauterine growth retardation	137814	NKX2-6	ORPHA:3303
HP:0001511	Intrauterine growth retardation	23129	PLXND1	ORPHA:3384
HP:0001511	Intrauterine growth retardation	6309	SC5D	ORPHA:46059
HP:0001511	Intrauterine growth retardation	1832	DSP	ORPHA:158687
HP:0001511	Intrauterine growth retardation	3728	JUP	ORPHA:158687
HP:0001511	Intrauterine growth retardation	9871	SEC24D	ORPHA:2050
HP:0001511	Intrauterine growth retardation	5034	P4HB	ORPHA:2050
HP:0001511	Intrauterine growth retardation	5393	EXOSC9	OMIM:618065
HP:0001511	Intrauterine growth retardation	7355	SLC35A2	ORPHA:356961
HP:0001511	Intrauterine growth retardation	7355	SLC35A2	OMIM:300896
HP:0001511	Intrauterine growth retardation	25821	MTO1	OMIM:614702
HP:0001511	Intrauterine growth retardation	10274	STAG1	ORPHA:502434
HP:0001511	Intrauterine growth retardation	10274	STAG1	OMIM:617635
HP:0001511	Intrauterine growth retardation	51343	FZR1	OMIM:620145
HP:0001511	Intrauterine growth retardation	2629	GBA1	OMIM:608013
HP:0001511	Intrauterine growth retardation	4784	NFIX	ORPHA:447980
HP:0001511	Intrauterine growth retardation	6341	SCO1	OMIM:619048
HP:0001511	Intrauterine growth retardation	613	BCR	ORPHA:261330
HP:0001511	Intrauterine growth retardation	1399	CRKL	ORPHA:261330
HP:0001511	Intrauterine growth retardation	5594	MAPK1	ORPHA:261330
HP:0001511	Intrauterine growth retardation	4552	MTRR	ORPHA:2169
HP:0001511	Intrauterine growth retardation	79947	DHDDS	OMIM:613861
HP:0001511	Intrauterine growth retardation	1717	DHCR7	ORPHA:818
HP:0001511	Intrauterine growth retardation	1717	DHCR7	OMIM:270400
HP:0001511	Intrauterine growth retardation	9382	COG1	OMIM:611209
HP:0001511	Intrauterine growth retardation	87178	PNPT1	ORPHA:319514
HP:0001511	Intrauterine growth retardation	7298	TYMS	OMIM:620040
HP:0001511	Intrauterine growth retardation	7298	TYMS	ORPHA:1775
HP:0001511	Intrauterine growth retardation	1340	COX6B1	OMIM:619051
HP:0001511	Intrauterine growth retardation	57492	ARID1B	OMIM:135900
HP:0001511	Intrauterine growth retardation	57492	ARID1B	ORPHA:1465
HP:0001511	Intrauterine growth retardation	100131801	PET100	OMIM:619055
HP:0001511	Intrauterine growth retardation	55037	PTCD3	OMIM:619057
HP:0001511	Intrauterine growth retardation	274	BIN1	OMIM:255200
HP:0001511	Intrauterine growth retardation	8289	ARID1A	OMIM:614607
HP:0001511	Intrauterine growth retardation	8289	ARID1A	ORPHA:1465
HP:0001511	Intrauterine growth retardation	672	BRCA1	ORPHA:84
HP:0001511	Intrauterine growth retardation	10459	MAD2L2	ORPHA:84
HP:0001511	Intrauterine growth retardation	7516	XRCC2	ORPHA:84
HP:0001511	Intrauterine growth retardation	29089	UBE2T	ORPHA:84
HP:0001511	Intrauterine growth retardation	2177	FANCD2	ORPHA:84
HP:0001511	Intrauterine growth retardation	2175	FANCA	ORPHA:84
HP:0001511	Intrauterine growth retardation	2178	FANCE	ORPHA:84
HP:0001511	Intrauterine growth retardation	2189	FANCG	ORPHA:84
HP:0001511	Intrauterine growth retardation	5888	RAD51	ORPHA:84
HP:0001511	Intrauterine growth retardation	5889	RAD51C	ORPHA:84
HP:0001511	Intrauterine growth retardation	57697	FANCM	ORPHA:84
HP:0001511	Intrauterine growth retardation	79728	PALB2	ORPHA:84
HP:0001511	Intrauterine growth retardation	84464	SLX4	ORPHA:84
HP:0001511	Intrauterine growth retardation	2072	ERCC4	ORPHA:84
HP:0001511	Intrauterine growth retardation	6598	SMARCB1	OMIM:614608
HP:0001511	Intrauterine growth retardation	6598	SMARCB1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6597	SMARCA4	OMIM:614609
HP:0001511	Intrauterine growth retardation	6597	SMARCA4	ORPHA:1465
HP:0001511	Intrauterine growth retardation	5313	PKLR	OMIM:266200
HP:0001511	Intrauterine growth retardation	8802	SUCLG1	OMIM:245400
HP:0001511	Intrauterine growth retardation	222663	SCUBE3	OMIM:619184
HP:0001511	Intrauterine growth retardation	9184	BUB3	ORPHA:1052
HP:0001511	Intrauterine growth retardation	699	BUB1	ORPHA:1052
HP:0001511	Intrauterine growth retardation	699	BUB1	OMIM:620183
HP:0001511	Intrauterine growth retardation	9702	CEP57	ORPHA:1052
HP:0001511	Intrauterine growth retardation	9702	CEP57	OMIM:614114
HP:0001511	Intrauterine growth retardation	9319	TRIP13	ORPHA:1052
HP:0001511	Intrauterine growth retardation	701	BUB1B	ORPHA:1052
HP:0001511	Intrauterine growth retardation	701	BUB1B	OMIM:257300
HP:0001511	Intrauterine growth retardation	7156	TOP3A	OMIM:618097
HP:0001511	Intrauterine growth retardation	51199	NIN	OMIM:614851
HP:0001511	Intrauterine growth retardation	4591	TRIM37	OMIM:253250
HP:0001511	Intrauterine growth retardation	4591	TRIM37	ORPHA:2576
HP:0001511	Intrauterine growth retardation	10352	WARS2	ORPHA:572798
HP:0001511	Intrauterine growth retardation	10352	WARS2	OMIM:617710
HP:0001511	Intrauterine growth retardation	84300	UQCC2	OMIM:615824
HP:0001511	Intrauterine growth retardation	83879	CDCA7	OMIM:616910
HP:0001511	Intrauterine growth retardation	25942	SIN3A	OMIM:613406
HP:0001511	Intrauterine growth retardation	53834	FGFRL1	OMIM:194190
HP:0001511	Intrauterine growth retardation	2200	FBN1	OMIM:616914
HP:0001511	Intrauterine growth retardation	4524	MTHFR	ORPHA:563609
HP:0001511	Intrauterine growth retardation	57216	VANGL2	ORPHA:563609
HP:0001511	Intrauterine growth retardation	26227	PHGDH	OMIM:256520
HP:0001511	Intrauterine growth retardation	26227	PHGDH	ORPHA:79351
HP:0001511	Intrauterine growth retardation	2615	LRRC32	OMIM:619074
HP:0001511	Intrauterine growth retardation	6135	RPL11	OMIM:612562
HP:0001511	Intrauterine growth retardation	222546	RFX6	OMIM:615710
HP:0001511	Intrauterine growth retardation	26053	AUTS2	OMIM:615834
HP:0001511	Intrauterine growth retardation	5828	PEX2	OMIM:614866
HP:0001511	Intrauterine growth retardation	2321	FLT1	ORPHA:275555
HP:0001511	Intrauterine growth retardation	219736	STOX1	ORPHA:275555
HP:0001511	Intrauterine growth retardation	10699	CORIN	ORPHA:275555
HP:0001511	Intrauterine growth retardation	3043	HBB	ORPHA:2133
HP:0001511	Intrauterine growth retardation	285175	UNC80	OMIM:616801
HP:0001511	Intrauterine growth retardation	285175	UNC80	ORPHA:371364
HP:0001511	Intrauterine growth retardation	10056	FARSB	OMIM:613658
HP:0001511	Intrauterine growth retardation	9289	ADGRG1	ORPHA:98889
HP:0001511	Intrauterine growth retardation	27286	SRPX2	ORPHA:98889
HP:0001511	Intrauterine growth retardation	11128	POLR3A	OMIM:264090
HP:0001511	Intrauterine growth retardation	11128	POLR3A	ORPHA:3455
HP:0001511	Intrauterine growth retardation	8085	KMT2D	OMIM:620186
HP:0001511	Intrauterine growth retardation	57459	GATAD2B	ORPHA:363686
HP:0001511	Intrauterine growth retardation	6628	SNRPB	ORPHA:1393
HP:0001511	Intrauterine growth retardation	4089	SMAD4	OMIM:139210
HP:0001511	Intrauterine growth retardation	4089	SMAD4	ORPHA:2588
HP:0001511	Intrauterine growth retardation	5324	PLAG1	ORPHA:397590
HP:0001511	Intrauterine growth retardation	5591	PRKDC	OMIM:615966
HP:0001511	Intrauterine growth retardation	64135	IFIH1	OMIM:615846
HP:0001511	Intrauterine growth retardation	10472	ZBTB18	OMIM:612337
HP:0001511	Intrauterine growth retardation	10165	SLC25A13	ORPHA:247598
HP:0001511	Intrauterine growth retardation	5422	POLA1	ORPHA:163976
HP:0001511	Intrauterine growth retardation	5422	POLA1	OMIM:301030
HP:0001511	Intrauterine growth retardation	6605	SMARCE1	OMIM:616938
HP:0001511	Intrauterine growth retardation	6605	SMARCE1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	51085	MLXIPL	OMIM:194050
HP:0001511	Intrauterine growth retardation	3911	LAMA5	OMIM:620076
HP:0001511	Intrauterine growth retardation	55343	SLC35C1	ORPHA:99843
HP:0001511	Intrauterine growth retardation	4846	NOS3	OMIM:189800
HP:0001511	Intrauterine growth retardation	63895	PIEZO2	OMIM:248700
HP:0001511	Intrauterine growth retardation	63895	PIEZO2	ORPHA:2461
HP:0001511	Intrauterine growth retardation	5295	PIK3R1	OMIM:269880
HP:0001511	Intrauterine growth retardation	5915	RARB	ORPHA:2470
HP:0001511	Intrauterine growth retardation	6905	TBCE	OMIM:244460
HP:0001511	Intrauterine growth retardation	6905	TBCE	ORPHA:93324
HP:0001511	Intrauterine growth retardation	3977	LIFR	ORPHA:3206
HP:0001511	Intrauterine growth retardation	6389	SDHA	ORPHA:3208
HP:0001511	Intrauterine growth retardation	6390	SDHB	ORPHA:3208
HP:0001511	Intrauterine growth retardation	6392	SDHD	ORPHA:3208
HP:0001511	Intrauterine growth retardation	644096	SDHAF1	ORPHA:3208
HP:0001511	Intrauterine growth retardation	80184	CEP290	OMIM:611134
HP:0001511	Intrauterine growth retardation	55835	CENPJ	OMIM:613676
HP:0001511	Intrauterine growth retardation	55835	CENPJ	ORPHA:808
HP:0001511	Intrauterine growth retardation	545	ATR	ORPHA:808
HP:0001511	Intrauterine growth retardation	545	ATR	OMIM:210600
HP:0001511	Intrauterine growth retardation	5116	PCNT	ORPHA:808
HP:0001511	Intrauterine growth retardation	5116	PCNT	OMIM:210720
HP:0001511	Intrauterine growth retardation	5116	PCNT	ORPHA:2637
HP:0001511	Intrauterine growth retardation	5932	RBBP8	ORPHA:808
HP:0001511	Intrauterine growth retardation	79902	NUP85	ORPHA:808
HP:0001511	Intrauterine growth retardation	84126	ATRIP	ORPHA:808
HP:0001511	Intrauterine growth retardation	10293	TRAIP	ORPHA:808
HP:0001511	Intrauterine growth retardation	10293	TRAIP	OMIM:616777
HP:0001511	Intrauterine growth retardation	22995	CEP152	ORPHA:808
HP:0001511	Intrauterine growth retardation	65057	ACD	ORPHA:3322
HP:0001511	Intrauterine growth retardation	65057	ACD	OMIM:616553
HP:0001511	Intrauterine growth retardation	7015	TERT	ORPHA:3322
HP:0001511	Intrauterine growth retardation	7015	TERT	ORPHA:1775
HP:0001511	Intrauterine growth retardation	2317	FLNB	OMIM:150250
HP:0001511	Intrauterine growth retardation	667	DST	OMIM:614653
HP:0001511	Intrauterine growth retardation	57017	COQ9	OMIM:614654
HP:0001511	Intrauterine growth retardation	1146	CHRNG	OMIM:253290
HP:0001511	Intrauterine growth retardation	1146	CHRNG	ORPHA:2990
HP:0001511	Intrauterine growth retardation	1144	CHRND	OMIM:253290
HP:0001511	Intrauterine growth retardation	1134	CHRNA1	OMIM:253290
HP:0001511	Intrauterine growth retardation	6664	SOX11	OMIM:615866
HP:0001511	Intrauterine growth retardation	6664	SOX11	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6888	TALDO1	OMIM:606003
HP:0001511	Intrauterine growth retardation	56052	ALG1	OMIM:608540
HP:0001511	Intrauterine growth retardation	6005	RHAG	ORPHA:71275
HP:0001511	Intrauterine growth retardation	6006	RHCE	ORPHA:71275
HP:0001511	Intrauterine growth retardation	6007	RHD	ORPHA:71275
HP:0001511	Intrauterine growth retardation	91949	COG7	OMIM:608779
HP:0001511	Intrauterine growth retardation	27238	GPKOW	ORPHA:2570
HP:0001511	Intrauterine growth retardation	4683	NBN	OMIM:251260
HP:0001511	Intrauterine growth retardation	23394	ADNP	OMIM:615873
HP:0001511	Intrauterine growth retardation	4173	MCM4	OMIM:609981
HP:0001511	Intrauterine growth retardation	2702	GJA5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	1482	NKX2-5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	23414	ZFPM2	ORPHA:3303
HP:0001511	Intrauterine growth retardation	3791	KDR	ORPHA:3303
HP:0001511	Intrauterine growth retardation	2657	GDF1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	182	JAG1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	140628	GATA5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	2324	FLT4	ORPHA:3303
HP:0001511	Intrauterine growth retardation	10370	CITED2	ORPHA:3303
HP:0001511	Intrauterine growth retardation	55593	OTUD5	OMIM:301056
HP:0001511	Intrauterine growth retardation	113179	ADAT3	ORPHA:363528
HP:0001511	Intrauterine growth retardation	10229	COQ7	OMIM:616733
HP:0001511	Intrauterine growth retardation	55784	MCTP2	ORPHA:1596
HP:0001511	Intrauterine growth retardation	169792	GLIS3	OMIM:610199
HP:0001511	Intrauterine growth retardation	51259	TMEM216	OMIM:603194
HP:0001511	Intrauterine growth retardation	9837	GINS1	OMIM:617827
HP:0001511	Intrauterine growth retardation	5053	PAH	ORPHA:2209
HP:0001511	Intrauterine growth retardation	9401	RECQL4	ORPHA:1225
HP:0001511	Intrauterine growth retardation	5925	RB1	ORPHA:1587
HP:0001511	Intrauterine growth retardation	23511	NUP188	OMIM:618804
HP:0001511	Intrauterine growth retardation	6659	SOX4	ORPHA:1465
HP:0001511	Intrauterine growth retardation	5977	DPF2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6601	SMARCC2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6602	SMARCD1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	196528	ARID2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	3796	KIF2A	OMIM:615411
HP:0001511	Intrauterine growth retardation	134701	RIPPLY2	ORPHA:2311
HP:0001511	Intrauterine growth retardation	10683	DLL3	ORPHA:2311
HP:0001511	Intrauterine growth retardation	3955	LFNG	ORPHA:2311
HP:0001511	Intrauterine growth retardation	84667	HES7	ORPHA:2311
HP:0001511	Intrauterine growth retardation	145873	MESP2	ORPHA:2311
HP:0001511	Intrauterine growth retardation	64131	XYLT1	OMIM:615777
HP:0001511	Intrauterine growth retardation	57211	ADGRG6	OMIM:616503
HP:0001511	Intrauterine growth retardation	708	C1QBP	OMIM:617713
HP:0001511	Intrauterine growth retardation	9361	LONP1	ORPHA:79243
HP:0001511	Intrauterine growth retardation	5160	PDHA1	ORPHA:79243
HP:0001511	Intrauterine growth retardation	259232	NALCN	OMIM:615419
HP:0001511	Intrauterine growth retardation	259232	NALCN	ORPHA:371364
HP:0001511	Intrauterine growth retardation	157570	ESCO2	ORPHA:2319
HP:0001511	Intrauterine growth retardation	8318	CDC45	ORPHA:2554
HP:0001511	Intrauterine growth retardation	51053	GMNN	ORPHA:2554
HP:0001511	Intrauterine growth retardation	8985	PLOD3	OMIM:612394
HP:0001511	Intrauterine growth retardation	25	ABL1	OMIM:617602
HP:0001511	Intrauterine growth retardation	5147	PDE6D	OMIM:615665
HP:0001511	Intrauterine growth retardation	57511	COG6	OMIM:614576
HP:0001511	Intrauterine growth retardation	29980	DONSON	OMIM:617604
HP:0001511	Intrauterine growth retardation	29980	DONSON	OMIM:251230
HP:0001511	Intrauterine growth retardation	6638	SNRPN	ORPHA:177907
HP:0001511	Intrauterine growth retardation	2313	FLI1	ORPHA:2308
HP:0001511	Intrauterine growth retardation	23476	BRD4	ORPHA:199
HP:0001511	Intrauterine growth retardation	9126	SMC3	ORPHA:199
HP:0001511	Intrauterine growth retardation	55869	HDAC8	ORPHA:199
HP:0001511	Intrauterine growth retardation	5885	RAD21	ORPHA:199
HP:0001511	Intrauterine growth retardation	157680	VPS13B	ORPHA:193
HP:0001511	Intrauterine growth retardation	9150	CTDP1	ORPHA:48431
HP:0001511	Intrauterine growth retardation	1861	TOR1A	OMIM:618947
HP:0001511	Intrauterine growth retardation	9894	TELO2	ORPHA:488642
HP:0001511	Intrauterine growth retardation	3704	ITPA	OMIM:616647
HP:0001511	Intrauterine growth retardation	25914	RTTN	ORPHA:468631
HP:0001511	Intrauterine growth retardation	4796	TONSL	ORPHA:93357
HP:0001511	Intrauterine growth retardation	5162	PDHB	ORPHA:255138
HP:0001511	Intrauterine growth retardation	1718	DHCR24	ORPHA:35107
HP:0001511	Intrauterine growth retardation	54870	QRICH1	OMIM:617982
HP:0001511	Intrauterine growth retardation	60528	ELAC2	OMIM:615440
HP:0001511	Intrauterine growth retardation	55278	QRSL1	OMIM:618835
HP:0001511	Intrauterine growth retardation	6911	TBX6	ORPHA:1797
HP:0001511	Intrauterine growth retardation	4780	NFE2L2	OMIM:617744
HP:0001511	Intrauterine growth retardation	202018	TAPT1	OMIM:616897
HP:0001511	Intrauterine growth retardation	28957	MRPS28	OMIM:618958
HP:0001511	Intrauterine growth retardation	5188	GATB	OMIM:618838
HP:0001511	Intrauterine growth retardation	55164	SHQ1	OMIM:619922
HP:0001511	Intrauterine growth retardation	3033	HADH	ORPHA:71212
HP:0001511	Intrauterine growth retardation	283459	GATC	OMIM:618839
HP:0001511	Intrauterine growth retardation	2767	GNA11	ORPHA:1556
HP:0001511	Intrauterine growth retardation	151188	ARL6IP6	ORPHA:1556
HP:0001511	Intrauterine growth retardation	9897	WASHC5	OMIM:220210
HP:0001511	Intrauterine growth retardation	57107	PDSS2	ORPHA:255249
HP:0001511	Intrauterine growth retardation	27235	COQ2	ORPHA:255249
HP:0001511	Intrauterine growth retardation	523	ATP6V1A	ORPHA:357074
HP:0001511	Intrauterine growth retardation	529	ATP6V1E1	ORPHA:357074
HP:0001511	Intrauterine growth retardation	7518	XRCC4	OMIM:616541
HP:0001511	Intrauterine growth retardation	5879	RAC1	OMIM:617751
HP:0001511	Intrauterine growth retardation	200205	IBA57	OMIM:615330
HP:0001511	Intrauterine growth retardation	1663	DDX11	OMIM:613398
HP:0001511	Intrauterine growth retardation	119559	SFXN4	OMIM:615578
HP:0001511	Intrauterine growth retardation	55733	HHAT	ORPHA:1422
HP:0001511	Intrauterine growth retardation	7476	WNT7A	ORPHA:2879
HP:0001511	Intrauterine growth retardation	10269	ZMPSTE24	ORPHA:1662
HP:0001511	Intrauterine growth retardation	10269	ZMPSTE24	OMIM:275210
HP:0001511	Intrauterine growth retardation	25974	MMACHC	ORPHA:79282
HP:0001511	Intrauterine growth retardation	85378	TUBGCP6	ORPHA:2518
HP:0001511	Intrauterine growth retardation	27229	TUBGCP4	ORPHA:2518
HP:0001511	Intrauterine growth retardation	51294	PCDH12	OMIM:251280
HP:0001511	Intrauterine growth retardation	55788	LMBRD1	ORPHA:79284
HP:0001511	Intrauterine growth retardation	1788	DNMT3A	OMIM:618724
HP:0001511	Intrauterine growth retardation	9757	KMT2B	OMIM:619934
HP:0001511	Intrauterine growth retardation	4621	MYH3	ORPHA:2990
HP:0001511	Intrauterine growth retardation	22930	RAB3GAP1	ORPHA:2510
HP:0001511	Intrauterine growth retardation	25782	RAB3GAP2	ORPHA:2510
HP:0001511	Intrauterine growth retardation	22931	RAB18	ORPHA:2510
HP:0001511	Intrauterine growth retardation	128637	TBC1D20	ORPHA:2510
HP:0001511	Intrauterine growth retardation	10262	SF3B4	ORPHA:1788
HP:0001511	Intrauterine growth retardation	6223	RPS19	OMIM:105650
HP:0001511	Intrauterine growth retardation	29928	TIMM22	OMIM:618851
HP:0001511	Intrauterine growth retardation	35	ACADS	ORPHA:26792
HP:0001511	Intrauterine growth retardation	2036	EPB41L1	OMIM:614257
HP:0001511	Intrauterine growth retardation	80169	CTC1	OMIM:612199
HP:0001511	Intrauterine growth retardation	80169	CTC1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55651	NHP2	ORPHA:1775
HP:0001511	Intrauterine growth retardation	79650	USB1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55135	WRAP53	ORPHA:1775
HP:0001511	Intrauterine growth retardation	4869	NPM1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	7012	TERC	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55505	NOP10	ORPHA:1775
HP:0001511	Intrauterine growth retardation	10736	SIX2	ORPHA:488437
HP:0001511	Intrauterine growth retardation	63901	FAM111A	ORPHA:93325
HP:0001511	Intrauterine growth retardation	10436	EMG1	ORPHA:1270
HP:0001511	Intrauterine growth retardation	256297	PTF1A	OMIM:609069
HP:0001511	Intrauterine growth retardation	50814	NSDHL	OMIM:308050
HP:0001511	Intrauterine growth retardation	2961	GTF2E2	OMIM:616943
HP:0001513	Obesity	25970	SH2B1	ORPHA:261222
HP:0001513	Obesity	25970	SH2B1	ORPHA:329249
HP:0001513	Obesity	25970	SH2B1	ORPHA:261197
HP:0001513	Obesity	27316	RBMX	OMIM:300238
HP:0001513	Obesity	63036	CELA2A	OMIM:618620
HP:0001513	Obesity	5728	PTEN	OMIM:605309
HP:0001513	Obesity	583	BBS2	OMIM:616562
HP:0001513	Obesity	583	BBS2	ORPHA:110
HP:0001513	Obesity	583	BBS2	OMIM:615981
HP:0001513	Obesity	583	BBS2	ORPHA:791
HP:0001513	Obesity	11284	PNKP	ORPHA:459033
HP:0001513	Obesity	11284	PNKP	OMIM:616267
HP:0001513	Obesity	123263	MTFMT	OMIM:614947
HP:0001513	Obesity	1788	DNMT3A	ORPHA:404443
HP:0001513	Obesity	10159	ATP6AP2	ORPHA:93952
HP:0001513	Obesity	23126	POGZ	ORPHA:468678
HP:0001513	Obesity	23126	POGZ	OMIM:616364
HP:0001513	Obesity	149775	GNAS-AS1	OMIM:603233
HP:0001513	Obesity	8675	STX16	OMIM:603233
HP:0001513	Obesity	7552	ZNF711	OMIM:300803
HP:0001513	Obesity	2314	FLII	ORPHA:819
HP:0001513	Obesity	23096	IQSEC2	ORPHA:819
HP:0001513	Obesity	23096	IQSEC2	ORPHA:217377
HP:0001513	Obesity	10743	RAI1	ORPHA:819
HP:0001513	Obesity	10522	DEAF1	ORPHA:819
HP:0001513	Obesity	9915	ARNT2	OMIM:615926
HP:0001513	Obesity	9915	ARNT2	ORPHA:3157
HP:0001513	Obesity	55780	ERMARD	ORPHA:75857
HP:0001513	Obesity	29072	SETD2	OMIM:620155
HP:0001513	Obesity	29072	SETD2	OMIM:616831
HP:0001513	Obesity	6926	TBX3	ORPHA:3138
HP:0001513	Obesity	6926	TBX3	OMIM:181450
HP:0001513	Obesity	1300	COL10A1	ORPHA:174
HP:0001513	Obesity	28958	COA3	OMIM:619058
HP:0001513	Obesity	9739	SETD1A	OMIM:619056
HP:0001513	Obesity	80204	FBXO11	OMIM:618089
HP:0001513	Obesity	9692	PRORP	OMIM:619737
HP:0001513	Obesity	3952	LEP	OMIM:614962
HP:0001513	Obesity	3952	LEP	ORPHA:66628
HP:0001513	Obesity	2770	GNAI1	OMIM:619854
HP:0001513	Obesity	22897	CEP164	OMIM:614845
HP:0001513	Obesity	3953	LEPR	OMIM:614963
HP:0001513	Obesity	3953	LEPR	ORPHA:179494
HP:0001513	Obesity	1581	CYP7A1	ORPHA:209902
HP:0001513	Obesity	2626	GATA4	ORPHA:251071
HP:0001513	Obesity	23116	TOGARAM1	OMIM:619185
HP:0001513	Obesity	6872	TAF1	ORPHA:480907
HP:0001513	Obesity	57531	HACE1	ORPHA:464282
HP:0001513	Obesity	57531	HACE1	OMIM:616756
HP:0001513	Obesity	6899	TBX1	OMIM:188400
HP:0001513	Obesity	6899	TBX1	ORPHA:567
HP:0001513	Obesity	1656	DDX6	OMIM:618653
HP:0001513	Obesity	80208	SPG11	ORPHA:2822
HP:0001513	Obesity	80208	SPG11	OMIM:604360
HP:0001513	Obesity	79813	EHMT1	OMIM:610253
HP:0001513	Obesity	79813	EHMT1	ORPHA:96147
HP:0001513	Obesity	5144	PDE4D	OMIM:614613
HP:0001513	Obesity	5144	PDE4D	ORPHA:439822
HP:0001513	Obesity	5144	PDE4D	ORPHA:280651
HP:0001513	Obesity	4915	NTRK2	OMIM:613886
HP:0001513	Obesity	1954	MEGF8	OMIM:614976
HP:0001513	Obesity	1954	MEGF8	ORPHA:65759
HP:0001513	Obesity	84984	CEP19	OMIM:615703
HP:0001513	Obesity	84984	CEP19	ORPHA:110
HP:0001513	Obesity	25942	SIN3A	OMIM:613406
HP:0001513	Obesity	25942	SIN3A	ORPHA:94065
HP:0001513	Obesity	54496	PRMT7	ORPHA:464288
HP:0001513	Obesity	54496	PRMT7	OMIM:617157
HP:0001513	Obesity	6197	RPS6KA3	ORPHA:276630
HP:0001513	Obesity	7490	WT1	OMIM:194072
HP:0001513	Obesity	7490	WT1	ORPHA:893
HP:0001513	Obesity	5080	PAX6	OMIM:194072
HP:0001513	Obesity	5080	PAX6	ORPHA:893
HP:0001513	Obesity	1588	CYP19A1	ORPHA:91
HP:0001513	Obesity	1499	CTNNB1	ORPHA:54595
HP:0001513	Obesity	30011	SH3KBP1	OMIM:300310
HP:0001513	Obesity	92482	BBIP1	ORPHA:110
HP:0001513	Obesity	92482	BBIP1	OMIM:615995
HP:0001513	Obesity	80184	CEP290	ORPHA:110
HP:0001513	Obesity	80184	CEP290	OMIM:615991
HP:0001513	Obesity	11020	IFT27	ORPHA:110
HP:0001513	Obesity	11020	IFT27	OMIM:615996
HP:0001513	Obesity	49855	SCAPER	ORPHA:110
HP:0001513	Obesity	49855	SCAPER	ORPHA:791
HP:0001513	Obesity	4867	NPHP1	ORPHA:110
HP:0001513	Obesity	51057	WDPCP	ORPHA:110
HP:0001513	Obesity	22954	TRIM32	ORPHA:110
HP:0001513	Obesity	22954	TRIM32	OMIM:615988
HP:0001513	Obesity	54903	MKS1	ORPHA:110
HP:0001513	Obesity	54903	MKS1	OMIM:615990
HP:0001513	Obesity	79738	BBS10	ORPHA:110
HP:0001513	Obesity	79738	BBS10	OMIM:615987
HP:0001513	Obesity	123016	TTC8	ORPHA:110
HP:0001513	Obesity	123016	TTC8	OMIM:615985
HP:0001513	Obesity	123016	TTC8	ORPHA:791
HP:0001513	Obesity	123016	TTC8	OMIM:613464
HP:0001513	Obesity	26160	IFT172	ORPHA:110
HP:0001513	Obesity	26160	IFT172	ORPHA:791
HP:0001513	Obesity	26160	IFT172	OMIM:615630
HP:0001513	Obesity	26160	IFT172	OMIM:619471
HP:0001513	Obesity	585	BBS4	ORPHA:110
HP:0001513	Obesity	585	BBS4	OMIM:615982
HP:0001513	Obesity	8195	MKKS	ORPHA:110
HP:0001513	Obesity	8195	MKKS	OMIM:605231
HP:0001513	Obesity	54585	LZTFL1	ORPHA:110
HP:0001513	Obesity	54585	LZTFL1	OMIM:615994
HP:0001513	Obesity	55212	BBS7	ORPHA:110
HP:0001513	Obesity	55212	BBS7	OMIM:615984
HP:0001513	Obesity	166379	BBS12	ORPHA:110
HP:0001513	Obesity	166379	BBS12	OMIM:615989
HP:0001513	Obesity	10806	SDCCAG8	ORPHA:110
HP:0001513	Obesity	10806	SDCCAG8	OMIM:615993
HP:0001513	Obesity	157657	CFAP418	ORPHA:110
HP:0001513	Obesity	157657	CFAP418	ORPHA:791
HP:0001513	Obesity	157657	CFAP418	OMIM:617406
HP:0001513	Obesity	129880	BBS5	ORPHA:110
HP:0001513	Obesity	129880	BBS5	OMIM:615983
HP:0001513	Obesity	80173	IFT74	ORPHA:110
HP:0001513	Obesity	80173	IFT74	OMIM:617119
HP:0001513	Obesity	57498	KIDINS220	ORPHA:521390
HP:0001513	Obesity	57498	KIDINS220	OMIM:617296
HP:0001513	Obesity	27125	AFF4	OMIM:616368
HP:0001513	Obesity	27125	AFF4	ORPHA:444077
HP:0001513	Obesity	10908	PNPLA6	ORPHA:2377
HP:0001513	Obesity	10908	PNPLA6	OMIM:245800
HP:0001513	Obesity	4808	NHLH2	OMIM:619755
HP:0001513	Obesity	6804	STX1A	ORPHA:904
HP:0001513	Obesity	7461	CLIP2	ORPHA:904
HP:0001513	Obesity	84277	DNAJC30	ORPHA:904
HP:0001513	Obesity	8468	FKBP6	ORPHA:904
HP:0001513	Obesity	5982	RFC2	ORPHA:904
HP:0001513	Obesity	2969	GTF2I	ORPHA:904
HP:0001513	Obesity	3984	LIMK1	ORPHA:904
HP:0001513	Obesity	9569	GTF2IRD1	ORPHA:904
HP:0001513	Obesity	155382	VPS37D	ORPHA:904
HP:0001513	Obesity	155368	METTL27	ORPHA:904
HP:0001513	Obesity	114049	BUD23	ORPHA:904
HP:0001513	Obesity	7458	EIF4H	ORPHA:904
HP:0001513	Obesity	84163	GTF2IRD2	ORPHA:904
HP:0001513	Obesity	9275	BCL7B	ORPHA:904
HP:0001513	Obesity	26608	TBL2	ORPHA:904
HP:0001513	Obesity	653361	NCF1	ORPHA:904
HP:0001513	Obesity	135886	TMEM270	ORPHA:904
HP:0001513	Obesity	51085	MLXIPL	ORPHA:904
HP:0001513	Obesity	51085	MLXIPL	OMIM:194050
HP:0001513	Obesity	9031	BAZ1B	ORPHA:904
HP:0001513	Obesity	2006	ELN	ORPHA:904
HP:0001513	Obesity	2006	ELN	OMIM:194050
HP:0001513	Obesity	8314	BAP1	ORPHA:2495
HP:0001513	Obesity	4771	NF2	ORPHA:2495
HP:0001513	Obesity	6598	SMARCB1	ORPHA:2495
HP:0001513	Obesity	5155	PDGFB	ORPHA:2495
HP:0001513	Obesity	84231	TRAF7	ORPHA:2495
HP:0001513	Obesity	6608	SMO	ORPHA:2495
HP:0001513	Obesity	207	AKT1	ORPHA:2495
HP:0001513	Obesity	5290	PIK3CA	ORPHA:2495
HP:0001513	Obesity	7015	TERT	ORPHA:2495
HP:0001513	Obesity	51684	SUFU	ORPHA:2495
HP:0001513	Obesity	6605	SMARCE1	ORPHA:2495
HP:0001513	Obesity	5590	PRKCZ	ORPHA:1606
HP:0001513	Obesity	2563	GABRD	ORPHA:1606
HP:0001513	Obesity	23013	SPEN	ORPHA:1606
HP:0001513	Obesity	23013	SPEN	OMIM:619312
HP:0001513	Obesity	8510	MMP23B	ORPHA:1606
HP:0001513	Obesity	7798	LUZP1	ORPHA:1606
HP:0001513	Obesity	6497	SKI	ORPHA:1606
HP:0001513	Obesity	10630	PDPN	ORPHA:1606
HP:0001513	Obesity	3339	HSPG2	ORPHA:1606
HP:0001513	Obesity	10277	UBE4B	ORPHA:1606
HP:0001513	Obesity	8514	KCNAB2	ORPHA:1606
HP:0001513	Obesity	473	RERE	ORPHA:1606
HP:0001513	Obesity	63976	PRDM16	ORPHA:1606
HP:0001513	Obesity	54897	CASZ1	ORPHA:1606
HP:0001513	Obesity	6638	SNRPN	OMIM:105830
HP:0001513	Obesity	6638	SNRPN	ORPHA:98754
HP:0001513	Obesity	6638	SNRPN	ORPHA:177904
HP:0001513	Obesity	6638	SNRPN	ORPHA:177901
HP:0001513	Obesity	6638	SNRPN	ORPHA:177910
HP:0001513	Obesity	6638	SNRPN	ORPHA:177907
HP:0001513	Obesity	6638	SNRPN	ORPHA:411515
HP:0001513	Obesity	7337	UBE3A	OMIM:105830
HP:0001513	Obesity	7337	UBE3A	ORPHA:98794
HP:0001513	Obesity	7337	UBE3A	ORPHA:411511
HP:0001513	Obesity	7337	UBE3A	ORPHA:411515
HP:0001513	Obesity	100134444	KCNJ18	ORPHA:79102
HP:0001513	Obesity	2556	GABRA3	ORPHA:79102
HP:0001513	Obesity	779	CACNA1S	ORPHA:79102
HP:0001513	Obesity	55027	HEATR3	OMIM:620072
HP:0001513	Obesity	283209	PGM2L1	OMIM:620191
HP:0001513	Obesity	5244	ABCB4	ORPHA:69663
HP:0001513	Obesity	4089	SMAD4	OMIM:139210
HP:0001513	Obesity	8481	OFD1	OMIM:300209
HP:0001513	Obesity	8481	OFD1	ORPHA:791
HP:0001513	Obesity	6942	TCF20	OMIM:618430
HP:0001513	Obesity	4205	MEF2A	OMIM:608320
HP:0001513	Obesity	6473	SHOX	ORPHA:314795
HP:0001513	Obesity	124583	CANT1	OMIM:251450
HP:0001513	Obesity	4692	NDN	ORPHA:98754
HP:0001513	Obesity	4692	NDN	ORPHA:177904
HP:0001513	Obesity	4692	NDN	ORPHA:177901
HP:0001513	Obesity	4692	NDN	ORPHA:177910
HP:0001513	Obesity	54551	MAGEL2	ORPHA:98754
HP:0001513	Obesity	54551	MAGEL2	OMIM:176270
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177904
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177901
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177910
HP:0001513	Obesity	54551	MAGEL2	OMIM:615547
HP:0001513	Obesity	4948	OCA2	ORPHA:98754
HP:0001513	Obesity	4948	OCA2	ORPHA:98794
HP:0001513	Obesity	4948	OCA2	ORPHA:177904
HP:0001513	Obesity	4948	OCA2	ORPHA:177901
HP:0001513	Obesity	7030	TFE3	OMIM:301066
HP:0001513	Obesity	23162	MAPK8IP3	OMIM:618443
HP:0001513	Obesity	27086	FOXP1	OMIM:613670
HP:0001513	Obesity	51199	NIN	ORPHA:319675
HP:0001513	Obesity	2273	FHL1	ORPHA:98863
HP:0001513	Obesity	2010	EMD	ORPHA:98863
HP:0001513	Obesity	23590	PDSS1	OMIM:614651
HP:0001513	Obesity	1642	DDB1	OMIM:619426
HP:0001513	Obesity	4000	LMNA	ORPHA:98855
HP:0001513	Obesity	4000	LMNA	ORPHA:98853
HP:0001513	Obesity	2260	FGFR1	ORPHA:478
HP:0001513	Obesity	2260	FGFR1	ORPHA:3157
HP:0001513	Obesity	10371	SEMA3A	ORPHA:478
HP:0001513	Obesity	81848	SPRY4	ORPHA:478
HP:0001513	Obesity	23767	FLRT3	ORPHA:478
HP:0001513	Obesity	128674	PROKR2	ORPHA:478
HP:0001513	Obesity	128674	PROKR2	ORPHA:3157
HP:0001513	Obesity	79625	NDNF	ORPHA:478
HP:0001513	Obesity	2253	FGF8	ORPHA:478
HP:0001513	Obesity	389549	FEZF1	ORPHA:478
HP:0001513	Obesity	1630	DCC	ORPHA:478
HP:0001513	Obesity	3730	ANOS1	ORPHA:478
HP:0001513	Obesity	54756	IL17RD	ORPHA:478
HP:0001513	Obesity	6663	SOX10	ORPHA:478
HP:0001513	Obesity	285025	CCDC141	ORPHA:478
HP:0001513	Obesity	60675	PROK2	ORPHA:478
HP:0001513	Obesity	60675	PROK2	OMIM:610628
HP:0001513	Obesity	55636	CHD7	ORPHA:478
HP:0001513	Obesity	1848	DUSP6	ORPHA:478
HP:0001513	Obesity	6870	TACR3	ORPHA:478
HP:0001513	Obesity	55717	WDR11	ORPHA:478
HP:0001513	Obesity	9394	HS6ST1	ORPHA:478
HP:0001513	Obesity	8820	HESX1	ORPHA:478
HP:0001513	Obesity	8820	HESX1	ORPHA:3157
HP:0001513	Obesity	8822	FGF17	ORPHA:478
HP:0001513	Obesity	79188	TMEM43	ORPHA:98853
HP:0001513	Obesity	23345	SYNE1	ORPHA:98853
HP:0001513	Obesity	23224	SYNE2	ORPHA:98853
HP:0001513	Obesity	3767	KCNJ11	ORPHA:552
HP:0001513	Obesity	8462	KLF11	ORPHA:552
HP:0001513	Obesity	2645	GCK	ORPHA:552
HP:0001513	Obesity	26060	APPL1	ORPHA:552
HP:0001513	Obesity	640	BLK	ORPHA:552
HP:0001513	Obesity	640	BLK	OMIM:613375
HP:0001513	Obesity	1056	CEL	ORPHA:552
HP:0001513	Obesity	4760	NEUROD1	ORPHA:552
HP:0001513	Obesity	3651	PDX1	ORPHA:552
HP:0001513	Obesity	6833	ABCC8	ORPHA:552
HP:0001513	Obesity	5078	PAX4	ORPHA:552
HP:0001513	Obesity	3172	HNF4A	ORPHA:552
HP:0001513	Obesity	6927	HNF1A	ORPHA:552
HP:0001513	Obesity	3630	INS	ORPHA:552
HP:0001513	Obesity	55217	TMLHE	OMIM:300872
HP:0001513	Obesity	92840	REEP6	ORPHA:791
HP:0001513	Obesity	6094	ROM1	ORPHA:791
HP:0001513	Obesity	6017	RLBP1	ORPHA:791
HP:0001513	Obesity	7401	CLRN1	ORPHA:791
HP:0001513	Obesity	24	ABCA4	ORPHA:791
HP:0001513	Obesity	130557	ZNF513	ORPHA:791
HP:0001513	Obesity	92211	CDHR1	ORPHA:791
HP:0001513	Obesity	23568	ARL2BP	ORPHA:791
HP:0001513	Obesity	6121	RPE65	ORPHA:791
HP:0001513	Obesity	54806	AHI1	ORPHA:791
HP:0001513	Obesity	6101	RP1	ORPHA:791
HP:0001513	Obesity	3419	IDH3A	ORPHA:791
HP:0001513	Obesity	4751	NEK2	ORPHA:791
HP:0001513	Obesity	346007	EYS	ORPHA:791
HP:0001513	Obesity	8100	IFT88	ORPHA:791
HP:0001513	Obesity	23020	SNRNP200	ORPHA:791
HP:0001513	Obesity	762	CA4	ORPHA:791
HP:0001513	Obesity	138050	HGSNAT	ORPHA:791
HP:0001513	Obesity	196	AHR	ORPHA:791
HP:0001513	Obesity	3614	IMPDH1	ORPHA:791
HP:0001513	Obesity	6103	RPGR	ORPHA:791
HP:0001513	Obesity	1406	CRX	ORPHA:791
HP:0001513	Obesity	5148	PDE6G	ORPHA:791
HP:0001513	Obesity	26121	PRPF31	ORPHA:791
HP:0001513	Obesity	4117	MAK	ORPHA:791
HP:0001513	Obesity	25794	FSCN2	ORPHA:791
HP:0001513	Obesity	375298	CERKL	ORPHA:791
HP:0001513	Obesity	3420	IDH3B	ORPHA:791
HP:0001513	Obesity	57670	KIAA1549	ORPHA:791
HP:0001513	Obesity	7275	TUB	ORPHA:791
HP:0001513	Obesity	7275	TUB	OMIM:616188
HP:0001513	Obesity	24148	PRPF6	ORPHA:791
HP:0001513	Obesity	23418	CRB1	ORPHA:791
HP:0001513	Obesity	10461	MERTK	ORPHA:791
HP:0001513	Obesity	57709	SLC7A14	ORPHA:791
HP:0001513	Obesity	768206	PRCD	ORPHA:791
HP:0001513	Obesity	7399	USH2A	ORPHA:791
HP:0001513	Obesity	23370	ARHGEF18	ORPHA:791
HP:0001513	Obesity	5949	RBP3	ORPHA:791
HP:0001513	Obesity	6010	RHO	ORPHA:791
HP:0001513	Obesity	6100	RP9	ORPHA:791
HP:0001513	Obesity	10002	NR2E3	ORPHA:791
HP:0001513	Obesity	9227	LRAT	ORPHA:791
HP:0001513	Obesity	84140	FAM161A	ORPHA:791
HP:0001513	Obesity	55812	SPATA7	ORPHA:791
HP:0001513	Obesity	55624	POMGNT1	ORPHA:791
HP:0001513	Obesity	79797	ZNF408	ORPHA:791
HP:0001513	Obesity	403	ARL3	ORPHA:791
HP:0001513	Obesity	5145	PDE6A	ORPHA:791
HP:0001513	Obesity	10210	TOPORS	ORPHA:791
HP:0001513	Obesity	8842	PROM1	ORPHA:791
HP:0001513	Obesity	9128	PRPF4	ORPHA:791
HP:0001513	Obesity	145226	RDH12	ORPHA:791
HP:0001513	Obesity	50939	IMPG2	ORPHA:791
HP:0001513	Obesity	9742	IFT140	ORPHA:791
HP:0001513	Obesity	2979	GUCA1B	ORPHA:791
HP:0001513	Obesity	1259	CNGA1	ORPHA:791
HP:0001513	Obesity	1258	CNGB1	ORPHA:791
HP:0001513	Obesity	60509	AGBL5	ORPHA:791
HP:0001513	Obesity	5961	PRPH2	ORPHA:791
HP:0001513	Obesity	388939	PCARE	ORPHA:791
HP:0001513	Obesity	7439	BEST1	ORPHA:791
HP:0001513	Obesity	9785	DHX38	ORPHA:791
HP:0001513	Obesity	7287	TULP1	ORPHA:791
HP:0001513	Obesity	5995	RGR	ORPHA:791
HP:0001513	Obesity	9129	PRPF3	ORPHA:791
HP:0001513	Obesity	55975	KLHL7	ORPHA:791
HP:0001513	Obesity	3617	IMPG1	ORPHA:791
HP:0001513	Obesity	94137	RP1L1	ORPHA:791
HP:0001513	Obesity	5158	PDE6B	ORPHA:791
HP:0001513	Obesity	6102	RP2	ORPHA:791
HP:0001513	Obesity	55857	KIZ	ORPHA:791
HP:0001513	Obesity	64218	SEMA4A	ORPHA:791
HP:0001513	Obesity	4901	NRL	ORPHA:791
HP:0001513	Obesity	10594	PRPF8	ORPHA:791
HP:0001513	Obesity	6295	SAG	ORPHA:791
HP:0001513	Obesity	79947	DHDDS	ORPHA:791
HP:0001513	Obesity	6492	SIM1	ORPHA:369873
HP:0001513	Obesity	6492	SIM1	ORPHA:171829
HP:0001513	Obesity	6492	SIM1	ORPHA:398079
HP:0001513	Obesity	91147	TMEM67	OMIM:615991
HP:0001513	Obesity	89891	DYNC2I2	OMIM:615633
HP:0001513	Obesity	3290	HSD11B1	OMIM:614662
HP:0001513	Obesity	9759	HDAC4	ORPHA:1001
HP:0001513	Obesity	9759	HDAC4	OMIM:600430
HP:0001513	Obesity	7681	MKRN3	OMIM:176270
HP:0001513	Obesity	3653	IPW	OMIM:176270
HP:0001513	Obesity	791114	PWRN1	OMIM:176270
HP:0001513	Obesity	100033413	SNORD116-1	OMIM:176270
HP:0001513	Obesity	8924	HERC2	OMIM:176270
HP:0001513	Obesity	145624	PWAR1	OMIM:176270
HP:0001513	Obesity	23742	NPAP1	OMIM:176270
HP:0001513	Obesity	338433	SNORD115-1	OMIM:176270
HP:0001513	Obesity	5575	PRKAR1B	OMIM:619680
HP:0001513	Obesity	79048	SECISBP2	ORPHA:171706
HP:0001513	Obesity	8085	KMT2D	ORPHA:2322
HP:0001513	Obesity	7403	KDM6A	ORPHA:2322
HP:0001513	Obesity	1363	CPE	OMIM:619326
HP:0001513	Obesity	348	APOE	ORPHA:412
HP:0001513	Obesity	4204	MECP2	OMIM:300055
HP:0001513	Obesity	4204	MECP2	ORPHA:3077
HP:0001513	Obesity	8888	MCM3AP	OMIM:618124
HP:0001513	Obesity	6928	HNF1B	OMIM:137920
HP:0001513	Obesity	85358	SHANK3	ORPHA:48652
HP:0001513	Obesity	291	SLC25A4	OMIM:615418
HP:0001513	Obesity	26146	TRAF3IP1	OMIM:616629
HP:0001513	Obesity	1312	COMT	ORPHA:567
HP:0001513	Obesity	221037	JMJD1C	ORPHA:567
HP:0001513	Obesity	2812	GP1BB	ORPHA:567
HP:0001513	Obesity	6239	RREB1	ORPHA:567
HP:0001513	Obesity	7290	HIRA	ORPHA:567
HP:0001513	Obesity	9632	SEC24C	ORPHA:567
HP:0001513	Obesity	7353	UFD1	ORPHA:567
HP:0001513	Obesity	421	ARVCF	ORPHA:567
HP:0001513	Obesity	2261	FGFR3	ORPHA:15
HP:0001513	Obesity	1760	DMPK	ORPHA:589821
HP:0001513	Obesity	54681	P4HTM	OMIM:618493
HP:0001513	Obesity	26040	SETBP1	OMIM:616078
HP:0001513	Obesity	23395	LARS2	OMIM:615300
HP:0001513	Obesity	9049	AIP	OMIM:219090
HP:0001513	Obesity	6304	SATB1	OMIM:619229
HP:0001513	Obesity	51715	RAB23	ORPHA:65759
HP:0001513	Obesity	51715	RAB23	OMIM:201000
HP:0001513	Obesity	9563	H6PD	OMIM:604931
HP:0001513	Obesity	154	ADRB2	OMIM:601665
HP:0001513	Obesity	155	ADRB3	OMIM:601665
HP:0001513	Obesity	5167	ENPP1	OMIM:601665
HP:0001513	Obesity	7352	UCP3	OMIM:601665
HP:0001513	Obesity	8431	NR0B2	OMIM:601665
HP:0001513	Obesity	9607	CARTPT	OMIM:601665
HP:0001513	Obesity	51738	GHRL	OMIM:601665
HP:0001513	Obesity	5468	PPARG	OMIM:601665
HP:0001513	Obesity	9672	SDC3	OMIM:601665
HP:0001513	Obesity	181	AGRP	OMIM:601665
HP:0001513	Obesity	51604	PIGT	ORPHA:369837
HP:0001513	Obesity	6711	SPTBN1	OMIM:619475
HP:0001513	Obesity	23040	MYT1L	OMIM:616521
HP:0001513	Obesity	54361	WNT4	ORPHA:247768
HP:0001513	Obesity	91461	PKDCC	OMIM:618821
HP:0001513	Obesity	8087	FXR1	OMIM:618822
HP:0001513	Obesity	26047	CNTNAP2	ORPHA:163681
HP:0001513	Obesity	63932	STEEP1	OMIM:301013
HP:0001513	Obesity	213	ALB	ORPHA:86816
HP:0001513	Obesity	200894	ARL13B	OMIM:612291
HP:0001513	Obesity	51124	IER3IP1	OMIM:614231
HP:0001513	Obesity	23233	EXOC6B	OMIM:618395
HP:0001513	Obesity	8450	CUL4B	ORPHA:85293
HP:0001513	Obesity	5456	POU3F4	ORPHA:1435
HP:0001513	Obesity	627	BDNF	ORPHA:893
HP:0001513	Obesity	1512	CTSH	ORPHA:2073
HP:0001513	Obesity	5032	P2RY11	ORPHA:2073
HP:0001513	Obesity	4340	MOG	ORPHA:2073
HP:0001513	Obesity	4340	MOG	OMIM:614250
HP:0001513	Obesity	3119	HLA-DQB1	ORPHA:2073
HP:0001513	Obesity	3060	HCRT	ORPHA:2073
HP:0001513	Obesity	22891	ZNF365	ORPHA:2073
HP:0001513	Obesity	7292	TNFSF4	ORPHA:2073
HP:0001513	Obesity	3123	HLA-DRB1	ORPHA:2073
HP:0001513	Obesity	9320	TRIP12	OMIM:617752
HP:0001513	Obesity	55023	PHIP	OMIM:617991
HP:0001513	Obesity	1315	COPB1	OMIM:619255
HP:0001513	Obesity	51099	ABHD5	ORPHA:98907
HP:0001513	Obesity	51317	PHF21A	OMIM:618725
HP:0001513	Obesity	57104	PNPLA2	ORPHA:98908
HP:0001513	Obesity	1968	EIF2S3	ORPHA:85282
HP:0001513	Obesity	1968	EIF2S3	OMIM:300148
HP:0001513	Obesity	37	ACADVL	ORPHA:26793
HP:0001513	Obesity	23102	TBC1D2B	ORPHA:397973
HP:0001513	Obesity	375056	MIA3	OMIM:619269
HP:0001513	Obesity	1806	DPYD	ORPHA:293948
HP:0001513	Obesity	109	ADCY3	OMIM:617885
HP:0001513	Obesity	6736	SRY	ORPHA:1772
HP:0001513	Obesity	57194	ATP10A	ORPHA:411515
HP:0001513	Obesity	6657	SOX2	ORPHA:3157
HP:0001513	Obesity	6658	SOX3	ORPHA:3157
HP:0001513	Obesity	5015	OTX2	ORPHA:3157
HP:0001513	Obesity	23476	BRD4	ORPHA:199
HP:0001513	Obesity	9126	SMC3	ORPHA:199
HP:0001513	Obesity	8243	SMC1A	ORPHA:199
HP:0001513	Obesity	25836	NIPBL	ORPHA:199
HP:0001513	Obesity	55869	HDAC8	ORPHA:199
HP:0001513	Obesity	55869	HDAC8	OMIM:300882
HP:0001513	Obesity	55869	HDAC8	ORPHA:3459
HP:0001513	Obesity	5885	RAD21	ORPHA:199
HP:0001513	Obesity	3479	IGF1	ORPHA:73272
HP:0001513	Obesity	7840	ALMS1	ORPHA:64
HP:0001513	Obesity	7840	ALMS1	OMIM:203800
HP:0001513	Obesity	11253	MAN1B1	ORPHA:397941
HP:0001513	Obesity	11253	MAN1B1	OMIM:614202
HP:0001513	Obesity	23394	ADNP	ORPHA:404448
HP:0001513	Obesity	23394	ADNP	OMIM:615873
HP:0001513	Obesity	57187	THOC2	OMIM:300957
HP:0001513	Obesity	1387	CREBBP	OMIM:180849
HP:0001513	Obesity	2033	EP300	OMIM:180849
HP:0001513	Obesity	2778	GNAS	OMIM:219080
HP:0001513	Obesity	388015	RTL1	ORPHA:96184
HP:0001513	Obesity	8788	DLK1	ORPHA:96184
HP:0001513	Obesity	55384	MEG3	ORPHA:96184
HP:0001513	Obesity	26137	ZBTB20	OMIM:259050
HP:0001513	Obesity	755	CFAP410	OMIM:617547
HP:0001513	Obesity	81887	LAS1L	ORPHA:3459
HP:0001513	Obesity	50940	PDE11A	OMIM:610475
HP:0001513	Obesity	55599	RNPC3	OMIM:618160
HP:0001513	Obesity	84196	USP48	ORPHA:96253
HP:0001513	Obesity	7157	TP53	ORPHA:96253
HP:0001513	Obesity	9101	USP8	ORPHA:96253
HP:0001513	Obesity	64072	CDH23	ORPHA:96253
HP:0001513	Obesity	2908	NR3C1	ORPHA:96253
HP:0001513	Obesity	673	BRAF	ORPHA:96253
HP:0001513	Obesity	546	ATRX	ORPHA:96253
HP:0001513	Obesity	83696	TRAPPC9	OMIM:613192
HP:0001513	Obesity	2332	FMR1	ORPHA:261483
HP:0001513	Obesity	7518	XRCC4	OMIM:616541
HP:0001513	Obesity	84068	SLC10A7	OMIM:618363
HP:0001513	Obesity	3483	IGFALS	ORPHA:140941
HP:0001513	Obesity	5116	PCNT	ORPHA:2637
HP:0001513	Obesity	5116	PCNT	OMIM:210720
HP:0001513	Obesity	9149	DYRK1B	OMIM:615812
HP:0001513	Obesity	64131	XYLT1	OMIM:615777
HP:0001513	Obesity	64131	XYLT1	ORPHA:370930
HP:0001513	Obesity	84100	ARL6	OMIM:209900
HP:0001513	Obesity	79140	CCDC28B	OMIM:209900
HP:0001513	Obesity	582	BBS1	OMIM:209900
HP:0001513	Obesity	208	AKT2	ORPHA:293964
HP:0001513	Obesity	208	AKT2	OMIM:240900
HP:0001513	Obesity	5573	PRKAR1A	OMIM:610489
HP:0001513	Obesity	51322	WAC	ORPHA:466950
HP:0001513	Obesity	84295	PHF6	ORPHA:127
HP:0001513	Obesity	9056	SLC7A7	OMIM:222700
HP:0001513	Obesity	5718	PSMD12	ORPHA:529962
HP:0001513	Obesity	2186	BPTF	ORPHA:529962
HP:0001513	Obesity	2702	GJA5	OMIM:612474
HP:0001513	Obesity	2703	GJA8	OMIM:612474
HP:0001513	Obesity	27241	BBS9	OMIM:615986
HP:0001513	Obesity	5277	PIGA	OMIM:301072
HP:0001513	Obesity	3480	IGF1R	OMIM:270450
HP:0001513	Obesity	2690	GHR	ORPHA:633
HP:0001513	Obesity	5122	PCSK1	ORPHA:71528
HP:0001513	Obesity	4160	MC4R	ORPHA:71529
HP:0001513	Obesity	56623	INPP5E	OMIM:610156
HP:0001513	Obesity	5443	POMC	ORPHA:71526
HP:0001513	Obesity	157680	VPS13B	OMIM:216550
HP:0001513	Obesity	641	BLM	ORPHA:125
HP:0001513	Obesity	3991	LIPE	OMIM:615980
HP:0001513	Obesity	79576	NKAP	OMIM:301039
HP:0001513	Obesity	8882	ZPR1	OMIM:619321
HP:0001513	Obesity	79798	ARMC5	ORPHA:189427
HP:0001513	Obesity	79798	ARMC5	OMIM:615954
HP:0001513	Obesity	5566	PRKACA	ORPHA:189439
HP:0001513	Obesity	8622	PDE8B	ORPHA:189439
HP:0001513	Obesity	54805	CNNM2	OMIM:616418
HP:0011730	Abnormal central sensory function	10159	ATP6AP2	OMIM:300423
HP:0011730	Abnormal central sensory function	10159	ATP6AP2	ORPHA:93952
HP:0011730	Abnormal central sensory function	215	ABCD1	ORPHA:139396
HP:0011730	Abnormal central sensory function	5621	PRNP	ORPHA:356
HP:0011730	Abnormal central sensory function	8314	BAP1	ORPHA:2495
HP:0011730	Abnormal central sensory function	4771	NF2	ORPHA:2495
HP:0011730	Abnormal central sensory function	6598	SMARCB1	ORPHA:2495
HP:0011730	Abnormal central sensory function	5155	PDGFB	ORPHA:2495
HP:0011730	Abnormal central sensory function	84231	TRAF7	ORPHA:2495
HP:0011730	Abnormal central sensory function	6608	SMO	ORPHA:2495
HP:0011730	Abnormal central sensory function	207	AKT1	ORPHA:2495
HP:0011730	Abnormal central sensory function	5290	PIK3CA	ORPHA:2495
HP:0011730	Abnormal central sensory function	7015	TERT	ORPHA:2495
HP:0011730	Abnormal central sensory function	51684	SUFU	ORPHA:2495
HP:0011730	Abnormal central sensory function	6605	SMARCE1	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	84733	CBX2	OMIM:613080
HP:0011731	Abnormality of circulating cortisol level	4221	MEN1	ORPHA:652
HP:0011731	Abnormality of circulating cortisol level	4221	MEN1	OMIM:131100
HP:0011731	Abnormality of circulating cortisol level	1027	CDKN1B	ORPHA:652
HP:0011731	Abnormality of circulating cortisol level	1027	CDKN1B	ORPHA:276152
HP:0011731	Abnormality of circulating cortisol level	1026	CDKN1A	ORPHA:652
HP:0011731	Abnormality of circulating cortisol level	1030	CDKN2B	ORPHA:652
HP:0011731	Abnormality of circulating cortisol level	1031	CDKN2C	ORPHA:652
HP:0011731	Abnormality of circulating cortisol level	3767	KCNJ11	ORPHA:79644
HP:0011731	Abnormality of circulating cortisol level	5979	RET	OMIM:171400
HP:0011731	Abnormality of circulating cortisol level	3350	HTR1A	OMIM:614674
HP:0011731	Abnormality of circulating cortisol level	326	AIRE	ORPHA:3453
HP:0011731	Abnormality of circulating cortisol level	79798	ARMC5	ORPHA:189427
HP:0011731	Abnormality of circulating cortisol level	2778	GNAS	ORPHA:189427
HP:0011731	Abnormality of circulating cortisol level	5566	PRKACA	ORPHA:189439
HP:0011731	Abnormality of circulating cortisol level	8622	PDE8B	ORPHA:189439
HP:0011731	Abnormality of circulating cortisol level	5573	PRKAR1A	ORPHA:189439
HP:0011731	Abnormality of circulating cortisol level	5573	PRKAR1A	OMIM:610489
HP:0011731	Abnormality of circulating cortisol level	5573	PRKAR1A	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	50940	PDE11A	ORPHA:189439
HP:0011731	Abnormality of circulating cortisol level	50940	PDE11A	OMIM:610475
HP:0011731	Abnormality of circulating cortisol level	84196	USP48	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	7157	TP53	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	7157	TP53	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	9101	USP8	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	64072	CDH23	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	2908	NR3C1	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	673	BRAF	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	546	ATRX	ORPHA:96253
HP:0011731	Abnormality of circulating cortisol level	84133	ZNRF3	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	1499	CTNNB1	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	1029	CDKN2A	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	7015	TERT	ORPHA:1501
HP:0011731	Abnormality of circulating cortisol level	9095	TBX19	ORPHA:199296
HP:0011731	Abnormality of circulating cortisol level	9095	TBX19	OMIM:201400
HP:0011731	Abnormality of circulating cortisol level	4791	NFKB2	ORPHA:293978
HP:0011731	Abnormality of circulating cortisol level	5122	PCSK1	OMIM:600955
HP:0011731	Abnormality of circulating cortisol level	5447	POR	OMIM:201750
HP:0011731	Abnormality of circulating cortisol level	5447	POR	ORPHA:95699
HP:0011731	Abnormality of circulating cortisol level	4158	MC2R	OMIM:202200
HP:0011731	Abnormality of circulating cortisol level	4158	MC2R	ORPHA:361
HP:0011731	Abnormality of circulating cortisol level	215	ABCD1	ORPHA:139396
HP:0011731	Abnormality of circulating cortisol level	1583	CYP11A1	ORPHA:168558
HP:0011731	Abnormality of circulating cortisol level	1583	CYP11A1	ORPHA:289548
HP:0011731	Abnormality of circulating cortisol level	8314	BAP1	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	4771	NF2	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	6598	SMARCB1	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	5155	PDGFB	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	84231	TRAF7	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	6608	SMO	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	207	AKT1	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	5290	PIK3CA	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	51684	SUFU	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	6605	SMARCE1	ORPHA:2495
HP:0011731	Abnormality of circulating cortisol level	8086	AAAS	OMIM:231550
HP:0011731	Abnormality of circulating cortisol level	56246	MRAP	ORPHA:361
HP:0011731	Abnormality of circulating cortisol level	56246	MRAP	OMIM:607398
HP:0011731	Abnormality of circulating cortisol level	6770	STAR	ORPHA:361
HP:0011731	Abnormality of circulating cortisol level	23530	NNT	ORPHA:361
HP:0011731	Abnormality of circulating cortisol level	23530	NNT	OMIM:614736
HP:0011731	Abnormality of circulating cortisol level	10587	TXNRD2	ORPHA:361
HP:0011731	Abnormality of circulating cortisol level	10587	TXNRD2	OMIM:617825
HP:0011731	Abnormality of circulating cortisol level	190	NR0B1	OMIM:300200
HP:0011731	Abnormality of circulating cortisol level	5443	POMC	OMIM:609734
HP:0011731	Abnormality of circulating cortisol level	55278	QRSL1	OMIM:618835
HP:0011731	Abnormality of circulating cortisol level	5188	GATB	OMIM:618838
HP:0011731	Abnormality of circulating cortisol level	866	SERPINA6	OMIM:611489
HP:0011731	Abnormality of circulating cortisol level	3284	HSD3B2	ORPHA:90791
HP:0011731	Abnormality of circulating cortisol level	283459	GATC	OMIM:618839
HP:0011731	Abnormality of circulating cortisol level	2737	GLI3	OMIM:146510
HP:0011731	Abnormality of circulating cortisol level	1586	CYP17A1	ORPHA:90793
HP:0011731	Abnormality of circulating cortisol level	1584	CYP11B1	ORPHA:90795
HP:0011731	Abnormality of circulating cortisol level	3291	HSD11B2	ORPHA:320
HP:0011731	Abnormality of circulating cortisol level	1585	CYP11B2	ORPHA:556030
HP:0011734	Central adrenal insufficiency	8086	AAAS	OMIM:231550
HP:0011734	Central adrenal insufficiency	2737	GLI3	ORPHA:672
HP:0011734	Central adrenal insufficiency	6638	SNRPN	ORPHA:177904
HP:0011734	Central adrenal insufficiency	6638	SNRPN	ORPHA:177901
HP:0011734	Central adrenal insufficiency	6638	SNRPN	ORPHA:98754
HP:0011734	Central adrenal insufficiency	4692	NDN	ORPHA:177904
HP:0011734	Central adrenal insufficiency	4692	NDN	ORPHA:177901
HP:0011734	Central adrenal insufficiency	4692	NDN	ORPHA:98754
HP:0011734	Central adrenal insufficiency	54551	MAGEL2	ORPHA:177904
HP:0011734	Central adrenal insufficiency	54551	MAGEL2	ORPHA:177901
HP:0011734	Central adrenal insufficiency	54551	MAGEL2	ORPHA:98754
HP:0011734	Central adrenal insufficiency	4948	OCA2	ORPHA:177904
HP:0011734	Central adrenal insufficiency	4948	OCA2	ORPHA:177901
HP:0011734	Central adrenal insufficiency	4948	OCA2	ORPHA:98754
HP:0011734	Central adrenal insufficiency	64072	CDH23	ORPHA:91347
HP:0011734	Central adrenal insufficiency	64072	CDH23	ORPHA:2965
HP:0011734	Central adrenal insufficiency	4791	NFKB2	OMIM:615577
HP:0011734	Central adrenal insufficiency	5122	PCSK1	ORPHA:71528
HP:0011734	Central adrenal insufficiency	55699	IARS2	OMIM:616007
HP:0011734	Central adrenal insufficiency	4221	MEN1	ORPHA:2965
HP:0011734	Central adrenal insufficiency	9049	AIP	ORPHA:2965
HP:0011734	Central adrenal insufficiency	55131	RBM28	OMIM:612079
HP:0011734	Central adrenal insufficiency	93627	TBCK	ORPHA:488632
HP:0011734	Central adrenal insufficiency	5443	POMC	ORPHA:71526
HP:0011734	Central adrenal insufficiency	1499	CTNNB1	ORPHA:54595
HP:0011734	Central adrenal insufficiency	673	BRAF	ORPHA:54595
HP:0011734	Central adrenal insufficiency	9095	TBX19	ORPHA:199296
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	64072	CDH23	ORPHA:91347
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	64072	CDH23	ORPHA:2965
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	4221	MEN1	ORPHA:2965
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	9049	AIP	ORPHA:2965
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	55131	RBM28	ORPHA:157954
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	9095	TBX19	ORPHA:199296
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	4791	NFKB2	ORPHA:293978
HP:0011736	Primary hyperaldosteronism	1188	CLCNKB	ORPHA:358
HP:0011736	Primary hyperaldosteronism	6559	SLC12A3	ORPHA:358
HP:0011736	Primary hyperaldosteronism	3762	KCNJ5	ORPHA:251274
HP:0011736	Primary hyperaldosteronism	776	CACNA1D	ORPHA:369929
HP:0011736	Primary hyperaldosteronism	1181	CLCN2	ORPHA:404
HP:0011736	Primary hyperaldosteronism	1584	CYP11B1	ORPHA:403
HP:0011736	Primary hyperaldosteronism	1585	CYP11B2	ORPHA:403
HP:0011736	Primary hyperaldosteronism	6340	SCNN1G	ORPHA:171876
HP:0011736	Primary hyperaldosteronism	6337	SCNN1A	ORPHA:171876
HP:0011736	Primary hyperaldosteronism	6338	SCNN1B	ORPHA:171876
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	3762	KCNJ5	ORPHA:251274
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	776	CACNA1D	ORPHA:369929
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	1181	CLCN2	ORPHA:404
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	1584	CYP11B1	ORPHA:403
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	1585	CYP11B2	ORPHA:403
HP:0011732	Abnormality of adrenal morphology	2737	GLI3	ORPHA:672
HP:0011732	Abnormality of adrenal morphology	2737	GLI3	OMIM:146510
HP:0011732	Abnormality of adrenal morphology	128	ADH5	OMIM:619151
HP:0011732	Abnormality of adrenal morphology	9897	WASHC5	OMIM:220210
HP:0011732	Abnormality of adrenal morphology	9897	WASHC5	ORPHA:7
HP:0011732	Abnormality of adrenal morphology	9095	TBX19	ORPHA:199296
HP:0011732	Abnormality of adrenal morphology	9095	TBX19	OMIM:201400
HP:0011732	Abnormality of adrenal morphology	54809	SAMD9	OMIM:617053
HP:0011732	Abnormality of adrenal morphology	50814	NSDHL	OMIM:308050
HP:0011732	Abnormality of adrenal morphology	7148	TNXB	ORPHA:230839
HP:0011732	Abnormality of adrenal morphology	8425	LTBP4	OMIM:613177
HP:0011732	Abnormality of adrenal morphology	1583	CYP11A1	ORPHA:168558
HP:0011732	Abnormality of adrenal morphology	1583	CYP11A1	ORPHA:289548
HP:0011732	Abnormality of adrenal morphology	128674	PROKR2	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	89884	LHX4	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	55717	WDR11	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	6091	ROBO1	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	8820	HESX1	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	50937	CDON	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	23432	GPR161	ORPHA:95496
HP:0011732	Abnormality of adrenal morphology	10269	ZMPSTE24	OMIM:275210
HP:0011732	Abnormality of adrenal morphology	6496	SIX3	OMIM:157170
HP:0011732	Abnormality of adrenal morphology	28952	CCDC22	ORPHA:7
HP:0011732	Abnormality of adrenal morphology	190	NR0B1	OMIM:300200
HP:0011732	Abnormality of adrenal morphology	5443	POMC	OMIM:609734
HP:0011732	Abnormality of adrenal morphology	652	BMP4	OMIM:607932
HP:0011732	Abnormality of adrenal morphology	54903	MKS1	OMIM:249000
HP:0011732	Abnormality of adrenal morphology	22858	CILK1	OMIM:612651
HP:0011732	Abnormality of adrenal morphology	1028	CDKN1C	OMIM:614732
HP:0011732	Abnormality of adrenal morphology	1028	CDKN1C	ORPHA:85173
HP:0011732	Abnormality of adrenal morphology	5426	POLE	ORPHA:85173
HP:0011732	Abnormality of adrenal morphology	4524	MTHFR	ORPHA:563609
HP:0011732	Abnormality of adrenal morphology	57216	VANGL2	ORPHA:563609
HP:0011732	Abnormality of adrenal morphology	5189	PEX1	OMIM:214100
HP:0011732	Abnormality of adrenal morphology	1026	CDKN1A	ORPHA:652
HP:0011732	Abnormality of adrenal morphology	1030	CDKN2B	ORPHA:652
HP:0011732	Abnormality of adrenal morphology	1031	CDKN2C	ORPHA:652
HP:0011732	Abnormality of adrenal morphology	137814	NKX2-6	ORPHA:3384
HP:0011732	Abnormality of adrenal morphology	23129	PLXND1	ORPHA:3384
HP:0011732	Abnormality of adrenal morphology	215	ABCD1	ORPHA:139399
HP:0011732	Abnormality of adrenal morphology	5566	PRKACA	ORPHA:189439
HP:0011732	Abnormality of adrenal morphology	8622	PDE8B	ORPHA:189439
HP:0011732	Abnormality of adrenal morphology	5573	PRKAR1A	ORPHA:189439
HP:0011732	Abnormality of adrenal morphology	5573	PRKAR1A	OMIM:610489
HP:0011732	Abnormality of adrenal morphology	5573	PRKAR1A	ORPHA:1359
HP:0011732	Abnormality of adrenal morphology	50940	PDE11A	ORPHA:189439
HP:0011732	Abnormality of adrenal morphology	50940	PDE11A	OMIM:610475
HP:0011732	Abnormality of adrenal morphology	50940	PDE11A	ORPHA:1359
HP:0011732	Abnormality of adrenal morphology	84133	ZNRF3	ORPHA:1501
HP:0011732	Abnormality of adrenal morphology	1499	CTNNB1	ORPHA:1501
HP:0011732	Abnormality of adrenal morphology	1029	CDKN2A	ORPHA:1501
HP:0011732	Abnormality of adrenal morphology	1029	CDKN2A	ORPHA:524
HP:0011732	Abnormality of adrenal morphology	7015	TERT	ORPHA:1501
HP:0011732	Abnormality of adrenal morphology	4193	MDM2	ORPHA:524
HP:0011732	Abnormality of adrenal morphology	11200	CHEK2	ORPHA:524
HP:0011732	Abnormality of adrenal morphology	7428	VHL	ORPHA:892
HP:0011732	Abnormality of adrenal morphology	7428	VHL	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	7428	VHL	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	595	CCND1	ORPHA:892
HP:0011732	Abnormality of adrenal morphology	1743	DLST	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	4191	MDH2	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	5979	RET	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	5979	RET	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	6389	SDHA	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	23095	KIF1B	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	2271	FH	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	8402	SLC25A11	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	54949	SDHAF2	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	55654	TMEM127	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	4763	NF1	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	6391	SDHC	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	6391	SDHC	OMIM:605373
HP:0011732	Abnormality of adrenal morphology	6392	SDHD	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	6392	SDHD	OMIM:168000
HP:0011732	Abnormality of adrenal morphology	6392	SDHD	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	6390	SDHB	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	6390	SDHB	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	6390	SDHB	OMIM:115310
HP:0011732	Abnormality of adrenal morphology	4149	MAX	ORPHA:29072
HP:0011732	Abnormality of adrenal morphology	1788	DNMT3A	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	2034	EPAS1	ORPHA:276621
HP:0011732	Abnormality of adrenal morphology	2710	GK	OMIM:307030
HP:0011732	Abnormality of adrenal morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011732	Abnormality of adrenal morphology	3481	IGF2	OMIM:130650
HP:0011732	Abnormality of adrenal morphology	3784	KCNQ1	OMIM:130650
HP:0011732	Abnormality of adrenal morphology	219844	HYLS1	OMIM:236680
HP:0011732	Abnormality of adrenal morphology	1589	CYP21A2	OMIM:201910
HP:0011732	Abnormality of adrenal morphology	84196	USP48	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	7157	TP53	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	9101	USP8	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	64072	CDH23	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	2908	NR3C1	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	2908	NR3C1	ORPHA:786
HP:0011732	Abnormality of adrenal morphology	673	BRAF	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	546	ATRX	ORPHA:96253
HP:0011732	Abnormality of adrenal morphology	776	CACNA1D	ORPHA:369929
HP:0011732	Abnormality of adrenal morphology	3762	KCNJ5	OMIM:613677
HP:0011732	Abnormality of adrenal morphology	3762	KCNJ5	ORPHA:251274
HP:0011732	Abnormality of adrenal morphology	326	AIRE	ORPHA:3453
HP:0011732	Abnormality of adrenal morphology	526	ATP6V1B2	ORPHA:79500
HP:0011732	Abnormality of adrenal morphology	57465	TBC1D24	ORPHA:79500
HP:0011732	Abnormality of adrenal morphology	79798	ARMC5	ORPHA:189427
HP:0011732	Abnormality of adrenal morphology	79798	ARMC5	OMIM:615954
HP:0011732	Abnormality of adrenal morphology	2778	GNAS	ORPHA:189427
HP:0011732	Abnormality of adrenal morphology	2778	GNAS	OMIM:219080
HP:0011732	Abnormality of adrenal morphology	51256	TBC1D7	OMIM:248000
HP:0011732	Abnormality of adrenal morphology	4000	LMNA	ORPHA:1662
HP:0011732	Abnormality of adrenal morphology	6329	SCN4A	ORPHA:681
HP:0011732	Abnormality of adrenal morphology	779	CACNA1S	ORPHA:681
HP:0011732	Abnormality of adrenal morphology	10008	KCNE3	ORPHA:681
HP:0011732	Abnormality of adrenal morphology	4221	MEN1	OMIM:131100
HP:0011732	Abnormality of adrenal morphology	324	APC	OMIM:175100
HP:0011732	Abnormality of adrenal morphology	324	APC	ORPHA:247806
HP:0011732	Abnormality of adrenal morphology	324	APC	ORPHA:79665
HP:0011732	Abnormality of adrenal morphology	1027	CDKN1B	ORPHA:276152
HP:0011732	Abnormality of adrenal morphology	6770	STAR	OMIM:201710
HP:0011732	Abnormality of adrenal morphology	3284	HSD3B2	ORPHA:90791
HP:0011732	Abnormality of adrenal morphology	1586	CYP17A1	ORPHA:90793
HP:0011732	Abnormality of adrenal morphology	1584	CYP11B1	OMIM:202010
HP:0011732	Abnormality of adrenal morphology	5447	POR	OMIM:613571
HP:0011732	Abnormality of adrenal morphology	3988	LIPA	OMIM:278000
HP:0011732	Abnormality of adrenal morphology	3988	LIPA	ORPHA:75233
HP:0011732	Abnormality of adrenal morphology	3988	LIPA	ORPHA:75234
HP:0011732	Abnormality of adrenal morphology	5167	ENPP1	ORPHA:51608
HP:0011732	Abnormality of adrenal morphology	368	ABCC6	ORPHA:51608
HP:0011732	Abnormality of adrenal morphology	7473	WNT3	OMIM:273395
HP:0011732	Abnormality of adrenal morphology	54361	WNT4	OMIM:611812
HP:0011732	Abnormality of adrenal morphology	1181	CLCN2	ORPHA:404
HP:0011732	Abnormality of adrenal morphology	1585	CYP11B2	ORPHA:403
HP:0011732	Abnormality of adrenal morphology	7528	YY1	ORPHA:97279
HP:0011732	Abnormality of adrenal morphology	3418	IDH2	ORPHA:163634
HP:0011732	Abnormality of adrenal morphology	3417	IDH1	ORPHA:163634
HP:0011732	Abnormality of adrenal morphology	5728	PTEN	ORPHA:109
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:552
HP:0001520	Large for gestational age	3767	KCNJ11	OMIM:601820
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:276580
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:79644
HP:0001520	Large for gestational age	8462	KLF11	ORPHA:552
HP:0001520	Large for gestational age	2645	GCK	ORPHA:552
HP:0001520	Large for gestational age	26060	APPL1	ORPHA:552
HP:0001520	Large for gestational age	640	BLK	ORPHA:552
HP:0001520	Large for gestational age	1056	CEL	ORPHA:552
HP:0001520	Large for gestational age	4760	NEUROD1	ORPHA:552
HP:0001520	Large for gestational age	3651	PDX1	ORPHA:552
HP:0001520	Large for gestational age	6833	ABCC8	ORPHA:552
HP:0001520	Large for gestational age	6833	ABCC8	ORPHA:276575
HP:0001520	Large for gestational age	6833	ABCC8	OMIM:256450
HP:0001520	Large for gestational age	5078	PAX4	ORPHA:552
HP:0001520	Large for gestational age	3172	HNF4A	ORPHA:552
HP:0001520	Large for gestational age	3172	HNF4A	OMIM:616026
HP:0001520	Large for gestational age	3172	HNF4A	ORPHA:263455
HP:0001520	Large for gestational age	6927	HNF1A	ORPHA:552
HP:0001520	Large for gestational age	6927	HNF1A	ORPHA:324575
HP:0001520	Large for gestational age	3630	INS	ORPHA:552
HP:0001520	Large for gestational age	2737	GLI3	ORPHA:672
HP:0001520	Large for gestational age	129563	DIS3L2	OMIM:267000
HP:0001520	Large for gestational age	4953	ODC1	OMIM:619075
HP:0001520	Large for gestational age	4953	ODC1	ORPHA:544488
HP:0001520	Large for gestational age	8036	SHOC2	OMIM:607721
HP:0001520	Large for gestational age	8925	HERC1	OMIM:617011
HP:0001520	Large for gestational age	8925	HERC1	ORPHA:457359
HP:0001520	Large for gestational age	388015	RTL1	ORPHA:254534
HP:0001520	Large for gestational age	388015	RTL1	ORPHA:96334
HP:0001520	Large for gestational age	8788	DLK1	ORPHA:254534
HP:0001520	Large for gestational age	8788	DLK1	ORPHA:96334
HP:0001520	Large for gestational age	55384	MEG3	ORPHA:254534
HP:0001520	Large for gestational age	55384	MEG3	ORPHA:96334
HP:0001520	Large for gestational age	5728	PTEN	OMIM:605309
HP:0001520	Large for gestational age	51604	PIGT	OMIM:615398
HP:0001520	Large for gestational age	9158	FIBP	ORPHA:500095
HP:0001520	Large for gestational age	9158	FIBP	OMIM:617107
HP:0001520	Large for gestational age	6016	RIT1	OMIM:615355
HP:0001520	Large for gestational age	84282	RNF135	ORPHA:137634
HP:0001520	Large for gestational age	5894	RAF1	OMIM:611553
HP:0001520	Large for gestational age	54499	TMCO1	OMIM:213980
HP:0001520	Large for gestational age	274	BIN1	ORPHA:169189
HP:0001520	Large for gestational age	64419	MTMR14	ORPHA:169189
HP:0001520	Large for gestational age	4618	MYF6	ORPHA:169189
HP:0001520	Large for gestational age	1785	DNM2	ORPHA:169189
HP:0001520	Large for gestational age	6261	RYR1	ORPHA:169189
HP:0001520	Large for gestational age	10060	ABCC9	OMIM:239850
HP:0001520	Large for gestational age	23405	DICER1	OMIM:618272
HP:0001520	Large for gestational age	79813	EHMT1	ORPHA:261652
HP:0001520	Large for gestational age	58508	KMT2C	ORPHA:261652
HP:0001520	Large for gestational age	288	ANK3	ORPHA:356996
HP:0001520	Large for gestational age	673	BRAF	OMIM:613706
HP:0001520	Large for gestational age	23556	PIGN	OMIM:614080
HP:0001520	Large for gestational age	9487	PIGL	OMIM:280000
HP:0001520	Large for gestational age	51684	SUFU	OMIM:617757
HP:0001520	Large for gestational age	208	AKT2	ORPHA:293964
HP:0001520	Large for gestational age	208	AKT2	OMIM:240900
HP:0001520	Large for gestational age	80173	IFT74	OMIM:617119
HP:0001520	Large for gestational age	5727	PTCH1	ORPHA:77301
HP:0001520	Large for gestational age	1910	EDNRB	OMIM:600501
HP:0001520	Large for gestational age	5277	PIGA	OMIM:300868
HP:0001520	Large for gestational age	3340	NDST1	OMIM:616116
HP:0001520	Large for gestational age	2475	MTOR	ORPHA:457485
HP:0001520	Large for gestational age	2475	MTOR	OMIM:616638
HP:0001520	Large for gestational age	7351	UCP2	ORPHA:276556
HP:0001520	Large for gestational age	6654	SOS1	OMIM:610733
HP:0008850	Severe postnatal growth retardation	23476	BRD4	ORPHA:199
HP:0008850	Severe postnatal growth retardation	9126	SMC3	ORPHA:199
HP:0008850	Severe postnatal growth retardation	8243	SMC1A	ORPHA:199
HP:0008850	Severe postnatal growth retardation	25836	NIPBL	ORPHA:199
HP:0008850	Severe postnatal growth retardation	55869	HDAC8	ORPHA:199
HP:0008850	Severe postnatal growth retardation	5885	RAD21	ORPHA:199
HP:0008850	Severe postnatal growth retardation	3479	IGF1	ORPHA:73272
HP:0008850	Severe postnatal growth retardation	6775	STAT4	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	3560	IL2RB	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	79722	ANKRD55	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	26191	PTPN22	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	919	CD247	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	3559	IL2RA	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	5771	PTPN2	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	2625	GATA3	ORPHA:2237
HP:0008850	Severe postnatal growth retardation	100151683	RNU4ATAC	OMIM:210710
HP:0008850	Severe postnatal growth retardation	89884	LHX4	OMIM:262700
HP:0008850	Severe postnatal growth retardation	5449	POU1F1	OMIM:613038
HP:0008850	Severe postnatal growth retardation	5557	PRIM1	OMIM:620005
HP:0008850	Severe postnatal growth retardation	6261	RYR1	ORPHA:98905
HP:0008850	Severe postnatal growth retardation	3643	INSR	ORPHA:769
HP:0008850	Severe postnatal growth retardation	51199	NIN	ORPHA:319675
HP:0008850	Severe postnatal growth retardation	641	BLM	ORPHA:125
HP:0008850	Severe postnatal growth retardation	6134	RPL10	ORPHA:435938
HP:0008850	Severe postnatal growth retardation	7466	WFS1	ORPHA:411590
HP:0008850	Severe postnatal growth retardation	10436	EMG1	ORPHA:1270
HP:0008850	Severe postnatal growth retardation	10682	EBP	ORPHA:35173
HP:0008850	Severe postnatal growth retardation	128637	TBC1D20	OMIM:615663
HP:0008850	Severe postnatal growth retardation	23729	SHPK	ORPHA:440713
HP:0008850	Severe postnatal growth retardation	53834	FGFRL1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	1487	CTBP1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	3954	LETM1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	7468	NSD2	OMIM:194190
HP:0008850	Severe postnatal growth retardation	10815	CPLX1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	93587	TRMT10A	ORPHA:391408
HP:0008850	Severe postnatal growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0008850	Severe postnatal growth retardation	1161	ERCC8	OMIM:216400
HP:0008850	Severe postnatal growth retardation	79158	GNPTAB	OMIM:252500
HP:0008850	Severe postnatal growth retardation	7252	TSHB	OMIM:275100
HP:0001525	Severe failure to thrive	9896	FIG4	OMIM:216340
HP:0001525	Severe failure to thrive	9896	FIG4	ORPHA:3472
HP:0001525	Severe failure to thrive	57061	HYMAI	OMIM:601410
HP:0001525	Severe failure to thrive	346171	ZFP57	OMIM:601410
HP:0001525	Severe failure to thrive	2074	ERCC6	OMIM:133540
HP:0001525	Severe failure to thrive	4000	LMNA	ORPHA:740
HP:0001525	Severe failure to thrive	10269	ZMPSTE24	ORPHA:740
HP:0001525	Severe failure to thrive	5631	PRPS1	ORPHA:423479
HP:0001525	Severe failure to thrive	7809	BSND	ORPHA:89938
HP:0001525	Severe failure to thrive	1188	CLCNKB	ORPHA:89938
HP:0001525	Severe failure to thrive	1187	CLCNKA	ORPHA:89938
HP:0001525	Severe failure to thrive	171023	ASXL1	ORPHA:97297
HP:0001525	Severe failure to thrive	55697	VAC14	ORPHA:3472
HP:0001525	Severe failure to thrive	3643	INSR	OMIM:246200
HP:0001525	Severe failure to thrive	55835	CENPJ	OMIM:613676
HP:0001525	Severe failure to thrive	259232	NALCN	ORPHA:371364
HP:0001525	Severe failure to thrive	285175	UNC80	ORPHA:371364
HP:0001525	Severe failure to thrive	25914	RTTN	ORPHA:468631
HP:0001525	Severe failure to thrive	5191	PEX7	OMIM:215100
HP:0001533	Slender build	4841	NONO	ORPHA:466791
HP:0001533	Slender build	4841	NONO	OMIM:300967
HP:0001533	Slender build	8925	HERC1	ORPHA:457359
HP:0001533	Slender build	50814	NSDHL	OMIM:300831
HP:0001533	Slender build	50814	NSDHL	ORPHA:251383
HP:0001533	Slender build	2892	GRIA3	OMIM:300699
HP:0001533	Slender build	2892	GRIA3	ORPHA:364028
HP:0001533	Slender build	1291	COL6A1	OMIM:254090
HP:0001533	Slender build	1292	COL6A2	OMIM:254090
HP:0001533	Slender build	1293	COL6A3	OMIM:254090
HP:0001533	Slender build	65109	UPF3B	OMIM:300676
HP:0001533	Slender build	284058	KANSL1	ORPHA:363958
HP:0001533	Slender build	284058	KANSL1	ORPHA:363965
HP:0001533	Slender build	1763	DNA2	OMIM:615156
HP:0001533	Slender build	1763	DNA2	ORPHA:352470
HP:0001533	Slender build	7040	TGFB1	OMIM:131300
HP:0001533	Slender build	7040	TGFB1	ORPHA:1328
HP:0001533	Slender build	9968	MED12	ORPHA:93932
HP:0001533	Slender build	84665	MYPN	ORPHA:171439
HP:0001533	Slender build	58	ACTA1	ORPHA:171439
HP:0001533	Slender build	58	ACTA1	OMIM:161800
HP:0001533	Slender build	7169	TPM2	ORPHA:171439
HP:0001533	Slender build	390594	KBTBD13	ORPHA:171439
HP:0001533	Slender build	4703	NEB	ORPHA:171439
HP:0001533	Slender build	4703	NEB	OMIM:256030
HP:0001533	Slender build	4703	NEB	ORPHA:399103
HP:0001533	Slender build	10324	KLHL41	ORPHA:171439
HP:0001533	Slender build	7170	TPM3	ORPHA:171439
HP:0001533	Slender build	1890	TYMP	OMIM:603041
HP:0001533	Slender build	5428	POLG	OMIM:603041
HP:0001533	Slender build	5428	POLG	OMIM:613662
HP:0001533	Slender build	10056	FARSB	OMIM:613658
HP:0001533	Slender build	7486	WRN	ORPHA:902
HP:0001533	Slender build	92335	STRADA	OMIM:611087
HP:0001533	Slender build	23152	CIC	OMIM:617600
HP:0001533	Slender build	6301	SARS1	OMIM:617709
HP:0001533	Slender build	10382	TUBB4A	OMIM:128101
HP:0001533	Slender build	92609	TIMM50	ORPHA:505216
HP:0001533	Slender build	11128	POLR3A	ORPHA:3455
HP:0001533	Slender build	2201	FBN2	ORPHA:115
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	6340	SCNN1G	ORPHA:171876
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	6337	SCNN1A	ORPHA:171876
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	6338	SCNN1B	ORPHA:171876
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3762	KCNJ5	ORPHA:251274
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1181	CLCN2	ORPHA:404
HP:0011746	Secretory adrenocortical adenoma	1181	CLCN2	ORPHA:404
HP:0011746	Secretory adrenocortical adenoma	1584	CYP11B1	ORPHA:403
HP:0011746	Secretory adrenocortical adenoma	1585	CYP11B2	ORPHA:403
HP:0011747	Abnormality of the anterior pituitary	7528	YY1	ORPHA:506358
HP:0011747	Abnormality of the anterior pituitary	4791	NFKB2	ORPHA:293978
HP:0011747	Abnormality of the anterior pituitary	4791	NFKB2	OMIM:615577
HP:0011747	Abnormality of the anterior pituitary	6909	TBX2	OMIM:618223
HP:0011747	Abnormality of the anterior pituitary	1859	DYRK1A	ORPHA:268261
HP:0011747	Abnormality of the anterior pituitary	23394	ADNP	OMIM:615873
HP:0011747	Abnormality of the anterior pituitary	10785	WDR4	OMIM:618347
HP:0011747	Abnormality of the anterior pituitary	22800	RRAS2	OMIM:618624
HP:0011747	Abnormality of the anterior pituitary	8675	STX16	ORPHA:94089
HP:0011747	Abnormality of the anterior pituitary	7681	MKRN3	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	3653	IPW	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	791114	PWRN1	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	100033413	SNORD116-1	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	8924	HERC2	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	145624	PWAR1	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	23742	NPAP1	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	338433	SNORD115-1	OMIM:176270
HP:0011747	Abnormality of the anterior pituitary	27125	AFF4	ORPHA:444077
HP:0011747	Abnormality of the anterior pituitary	55315	SLC29A3	OMIM:602782
HP:0011747	Abnormality of the anterior pituitary	7707	ZNF148	OMIM:617260
HP:0011747	Abnormality of the anterior pituitary	55159	RFWD3	OMIM:617784
HP:0011747	Abnormality of the anterior pituitary	113179	ADAT3	ORPHA:363528
HP:0011747	Abnormality of the anterior pituitary	113179	ADAT3	OMIM:615286
HP:0011747	Abnormality of the anterior pituitary	55215	FANCI	OMIM:609053
HP:0011747	Abnormality of the anterior pituitary	10908	PNPLA6	OMIM:275400
HP:0011747	Abnormality of the anterior pituitary	2693	GHSR	OMIM:615925
HP:0011747	Abnormality of the anterior pituitary	2188	FANCF	OMIM:603467
HP:0011747	Abnormality of the anterior pituitary	6777	STAT5B	OMIM:245590
HP:0011747	Abnormality of the anterior pituitary	284058	KANSL1	ORPHA:363958
HP:0011747	Abnormality of the anterior pituitary	284058	KANSL1	ORPHA:363965
HP:0011747	Abnormality of the anterior pituitary	9581	PREPL	OMIM:616224
HP:0011747	Abnormality of the anterior pituitary	55699	IARS2	ORPHA:436174
HP:0011747	Abnormality of the anterior pituitary	55699	IARS2	OMIM:616007
HP:0011747	Abnormality of the anterior pituitary	79184	BRCC3	ORPHA:280679
HP:0011747	Abnormality of the anterior pituitary	5308	PITX2	OMIM:180500
HP:0011747	Abnormality of the anterior pituitary	7840	ALMS1	OMIM:203800
HP:0011747	Abnormality of the anterior pituitary	7840	ALMS1	ORPHA:64
HP:0011747	Abnormality of the anterior pituitary	3481	IGF2	OMIM:180860
HP:0011747	Abnormality of the anterior pituitary	157680	VPS13B	OMIM:216550
HP:0011747	Abnormality of the anterior pituitary	25942	SIN3A	ORPHA:94065
HP:0011747	Abnormality of the anterior pituitary	25942	SIN3A	OMIM:613406
HP:0011747	Abnormality of the anterior pituitary	5718	PSMD12	ORPHA:529962
HP:0011747	Abnormality of the anterior pituitary	2186	BPTF	ORPHA:529962
HP:0011747	Abnormality of the anterior pituitary	4297	KMT2A	ORPHA:319182
HP:0011747	Abnormality of the anterior pituitary	93627	TBCK	ORPHA:488632
HP:0011747	Abnormality of the anterior pituitary	2783	GNB2	OMIM:619503
HP:0011747	Abnormality of the anterior pituitary	1028	CDKN1C	OMIM:614732
HP:0011747	Abnormality of the anterior pituitary	57187	THOC2	ORPHA:457240
HP:0011747	Abnormality of the anterior pituitary	54	ACP5	ORPHA:1855
HP:0011747	Abnormality of the anterior pituitary	9056	SLC7A7	ORPHA:470
HP:0011747	Abnormality of the anterior pituitary	84265	POLR3GL	OMIM:619234
HP:0011747	Abnormality of the anterior pituitary	9851	KIAA0753	OMIM:619476
HP:0011747	Abnormality of the anterior pituitary	6905	TBCE	OMIM:241410
HP:0011747	Abnormality of the anterior pituitary	80067	DCAF17	ORPHA:3464
HP:0011747	Abnormality of the anterior pituitary	54499	TMCO1	OMIM:213980
HP:0011747	Abnormality of the anterior pituitary	2887	GRB10	ORPHA:96182
HP:0011747	Abnormality of the anterior pituitary	5605	MAP2K2	OMIM:615280
HP:0011747	Abnormality of the anterior pituitary	9702	CEP57	OMIM:614114
HP:0011747	Abnormality of the anterior pituitary	9897	WASHC5	OMIM:220210
HP:0011747	Abnormality of the anterior pituitary	2317	FLNB	ORPHA:1263
HP:0011747	Abnormality of the anterior pituitary	695	BTK	OMIM:307200
HP:0011747	Abnormality of the anterior pituitary	9526	MPDU1	ORPHA:79323
HP:0011747	Abnormality of the anterior pituitary	5144	PDE4D	ORPHA:280651
HP:0011747	Abnormality of the anterior pituitary	1513	CTSK	ORPHA:763
HP:0011747	Abnormality of the anterior pituitary	79644	SRD5A3	ORPHA:324737
HP:0011747	Abnormality of the anterior pituitary	1968	EIF2S3	OMIM:300148
HP:0011747	Abnormality of the anterior pituitary	5426	POLE	OMIM:618336
HP:0011747	Abnormality of the anterior pituitary	51053	GMNN	OMIM:616835
HP:0011747	Abnormality of the anterior pituitary	6664	SOX11	OMIM:615866
HP:0011747	Abnormality of the anterior pituitary	157570	ESCO2	OMIM:216100
HP:0011747	Abnormality of the anterior pituitary	6469	SHH	OMIM:147250
HP:0011747	Abnormality of the anterior pituitary	6469	SHH	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	145173	B3GLCT	ORPHA:709
HP:0011747	Abnormality of the anterior pituitary	6608	SMO	OMIM:241800
HP:0011747	Abnormality of the anterior pituitary	29926	GMPPA	ORPHA:869
HP:0011747	Abnormality of the anterior pituitary	60684	TRAPPC11	ORPHA:869
HP:0011747	Abnormality of the anterior pituitary	8086	AAAS	ORPHA:869
HP:0011747	Abnormality of the anterior pituitary	91147	TMEM67	OMIM:602152
HP:0011747	Abnormality of the anterior pituitary	652	BMP4	OMIM:607932
HP:0011747	Abnormality of the anterior pituitary	60401	EDA2R	ORPHA:181
HP:0011747	Abnormality of the anterior pituitary	1896	EDA	ORPHA:181
HP:0011747	Abnormality of the anterior pituitary	4509	MT-ATP8	ORPHA:480
HP:0011747	Abnormality of the anterior pituitary	4567	MT-TL1	ORPHA:480
HP:0011747	Abnormality of the anterior pituitary	50484	RRM2B	ORPHA:480
HP:0011747	Abnormality of the anterior pituitary	28514	DLL1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	2253	FGF8	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	2253	FGF8	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	7050	TGIF1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	4838	NODAL	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	7546	ZIC2	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	6491	STIL	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	2619	GAS1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	84976	DISP1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	8928	FOXH1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	5727	PTCH1	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	50937	CDON	ORPHA:280195
HP:0011747	Abnormality of the anterior pituitary	8626	TP63	ORPHA:1896
HP:0011747	Abnormality of the anterior pituitary	9723	SEMA3E	ORPHA:138
HP:0011747	Abnormality of the anterior pituitary	10371	SEMA3A	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	81848	SPRY4	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	23767	FLRT3	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	79625	NDNF	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	389549	FEZF1	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	1630	DCC	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	3730	ANOS1	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	54756	IL17RD	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	6663	SOX10	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	285025	CCDC141	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	60675	PROK2	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	1848	DUSP6	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	6870	TACR3	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	55717	WDR11	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	9394	HS6ST1	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	8822	FGF17	ORPHA:478
HP:0011747	Abnormality of the anterior pituitary	340719	NANOS1	ORPHA:399808
HP:0011747	Abnormality of the anterior pituitary	340719	NANOS1	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	668	FOXL2	OMIM:110100
HP:0011747	Abnormality of the anterior pituitary	2492	FSHR	ORPHA:64739
HP:0011747	Abnormality of the anterior pituitary	2492	FSHR	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	2492	FSHR	OMIM:233300
HP:0011747	Abnormality of the anterior pituitary	7490	WT1	ORPHA:347
HP:0011747	Abnormality of the anterior pituitary	7490	WT1	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	3973	LHCGR	OMIM:238320
HP:0011747	Abnormality of the anterior pituitary	29893	PSMC3IP	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	171568	POLR3H	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	2516	NR5A1	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	2516	NR5A1	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	2516	NR5A1	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	125150	ZSWIM7	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	9210	BMP15	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	57122	NUP107	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	23514	SPIDR	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	56945	MRPS22	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	646	BNC1	ORPHA:243
HP:0011747	Abnormality of the anterior pituitary	2099	ESR1	ORPHA:785
HP:0011747	Abnormality of the anterior pituitary	23395	LARS2	OMIM:615300
HP:0011747	Abnormality of the anterior pituitary	2332	FMR1	OMIM:311360
HP:0011747	Abnormality of the anterior pituitary	6736	SRY	ORPHA:1772
HP:0011747	Abnormality of the anterior pituitary	6736	SRY	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	3295	HSD17B4	OMIM:233400
HP:0011747	Abnormality of the anterior pituitary	6662	SOX9	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	6845	VAMP7	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	51741	WWOX	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	4214	MAP3K1	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	58524	DMRT3	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	57647	DHX37	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	23414	ZFPM2	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	190	NR0B1	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	2626	GATA4	ORPHA:251510
HP:0011747	Abnormality of the anterior pituitary	5422	POLA1	ORPHA:163976
HP:0011747	Abnormality of the anterior pituitary	56154	TEX15	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	56155	TEX14	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	7516	XRCC2	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	254528	MEIOB	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	91057	CCDC34	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	402381	SOHLH1	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	317719	KLHL10	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	56159	TEX11	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	57697	FANCM	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	1080	CFTR	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	122402	TDRD9	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	154197	PNLDC1	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	93426	SYCE1	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	50511	SYCP3	ORPHA:399805
HP:0011747	Abnormality of the anterior pituitary	1586	CYP17A1	ORPHA:90793
HP:0011747	Abnormality of the anterior pituitary	50846	DHH	ORPHA:168563
HP:0011747	Abnormality of the anterior pituitary	3248	HPGD	ORPHA:2796
HP:0011747	Abnormality of the anterior pituitary	6578	SLCO2A1	ORPHA:2796
HP:0011747	Abnormality of the anterior pituitary	3767	KCNJ11	ORPHA:79644
HP:0011747	Abnormality of the anterior pituitary	3479	IGF1	OMIM:608747
HP:0011747	Abnormality of the anterior pituitary	5373	PMM2	ORPHA:79318
HP:0011747	Abnormality of the anterior pituitary	55154	MSTO1	OMIM:617675
HP:0011747	Abnormality of the anterior pituitary	55154	MSTO1	ORPHA:502423
HP:0011747	Abnormality of the anterior pituitary	2778	GNAS	OMIM:174800
HP:0011747	Abnormality of the anterior pituitary	2778	GNAS	ORPHA:562
HP:0011747	Abnormality of the anterior pituitary	5618	PRLR	OMIM:615555
HP:0011747	Abnormality of the anterior pituitary	8314	BAP1	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	4771	NF2	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	6598	SMARCB1	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	5155	PDGFB	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	84231	TRAF7	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	207	AKT1	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	5290	PIK3CA	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	7015	TERT	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	6605	SMARCE1	ORPHA:2495
HP:0011747	Abnormality of the anterior pituitary	7201	TRHR	ORPHA:99832
HP:0011747	Abnormality of the anterior pituitary	11128	POLR3A	ORPHA:3455
HP:0011747	Abnormality of the anterior pituitary	7252	TSHB	ORPHA:90674
HP:0011747	Abnormality of the anterior pituitary	1499	CTNNB1	ORPHA:54595
HP:0011747	Abnormality of the anterior pituitary	51684	SUFU	ORPHA:280200
HP:0011747	Abnormality of the anterior pituitary	23247	KATNIP	OMIM:616784
HP:0011747	Abnormality of the anterior pituitary	7737	RNF113A	OMIM:300953
HP:0011747	Abnormality of the anterior pituitary	10735	STAG2	ORPHA:220386
HP:0011747	Abnormality of the anterior pituitary	10735	STAG2	ORPHA:93925
HP:0011747	Abnormality of the anterior pituitary	8243	SMC1A	ORPHA:220386
HP:0011747	Abnormality of the anterior pituitary	2917	GRM7	OMIM:618922
HP:0011747	Abnormality of the anterior pituitary	23007	PLCH1	ORPHA:93925
HP:0011747	Abnormality of the anterior pituitary	5566	PRKACA	ORPHA:189439
HP:0011747	Abnormality of the anterior pituitary	8622	PDE8B	ORPHA:189439
HP:0011747	Abnormality of the anterior pituitary	3458	IFNG	ORPHA:805
HP:0011747	Abnormality of the anterior pituitary	7248	TSC1	ORPHA:805
HP:0011747	Abnormality of the anterior pituitary	7249	TSC2	ORPHA:805
HP:0011747	Abnormality of the anterior pituitary	324	APC	ORPHA:99818
HP:0011747	Abnormality of the anterior pituitary	4072	EPCAM	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	4292	MLH1	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	5395	PMS2	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	27030	MLH3	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	22909	FAN1	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	7048	TGFBR2	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	3845	KRAS	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	2956	MSH6	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	5378	PMS1	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	4436	MSH2	ORPHA:144
HP:0011747	Abnormality of the anterior pituitary	64218	SEMA4A	ORPHA:440437
HP:0011747	Abnormality of the anterior pituitary	657	BMPR1A	ORPHA:440437
HP:0011747	Abnormality of the anterior pituitary	6224	RPS20	ORPHA:440437
HP:0011747	Abnormality of the anterior pituitary	79798	ARMC5	ORPHA:189427
HP:0011747	Abnormality of the anterior pituitary	3418	IDH2	ORPHA:163634
HP:0011747	Abnormality of the anterior pituitary	3417	IDH1	ORPHA:163634
HP:0011747	Abnormality of the anterior pituitary	1621	DBH	OMIM:223360
HP:0011747	Abnormality of the anterior pituitary	3547	IGSF1	OMIM:300888
HP:0011747	Abnormality of the anterior pituitary	5443	POMC	OMIM:609734
HP:0011747	Abnormality of the anterior pituitary	5443	POMC	ORPHA:71526
HP:0011747	Abnormality of the anterior pituitary	2488	FSHB	ORPHA:52901
HP:0011747	Abnormality of the anterior pituitary	5122	PCSK1	ORPHA:71528
HP:0011747	Abnormality of the anterior pituitary	55636	CHD7	OMIM:214800
HP:0011747	Abnormality of the anterior pituitary	7080	NKX2-1	OMIM:610978
HP:0011747	Abnormality of the anterior pituitary	2245	FGD1	OMIM:305400
HP:0011747	Abnormality of the anterior pituitary	286053	NSMCE2	OMIM:617253
HP:0011747	Abnormality of the anterior pituitary	1730	DIAPH2	OMIM:300511
HP:0011747	Abnormality of the anterior pituitary	2100	ESR2	OMIM:618187
HP:0011747	Abnormality of the anterior pituitary	84515	MCM8	OMIM:612885
HP:0011747	Abnormality of the anterior pituitary	8468	FKBP6	OMIM:620103
HP:0011747	Abnormality of the anterior pituitary	5447	POR	ORPHA:95699
HP:0011747	Abnormality of the anterior pituitary	7555	CNBP	OMIM:602668
HP:0011747	Abnormality of the anterior pituitary	317761	C14orf39	OMIM:619203
HP:0011747	Abnormality of the anterior pituitary	3972	LHB	OMIM:228300
HP:0011747	Abnormality of the anterior pituitary	1528	CYB5A	ORPHA:90796
HP:0011747	Abnormality of the anterior pituitary	164045	HFM1	OMIM:615724
HP:0011747	Abnormality of the anterior pituitary	84634	KISS1R	OMIM:176400
HP:0011747	Abnormality of the anterior pituitary	10734	STAG3	OMIM:615723
HP:0011747	Abnormality of the anterior pituitary	254394	MCM9	OMIM:616185
HP:0011747	Abnormality of the anterior pituitary	4438	MSH4	OMIM:619938
HP:0011747	Abnormality of the anterior pituitary	2074	ERCC6	OMIM:616946
HP:0011747	Abnormality of the anterior pituitary	1583	CYP11A1	ORPHA:168558
HP:0011747	Abnormality of the anterior pituitary	1583	CYP11A1	ORPHA:289548
HP:0011747	Abnormality of the anterior pituitary	8192	CLPP	OMIM:614129
HP:0011747	Abnormality of the anterior pituitary	658	BMPR1B	OMIM:609441
HP:0011747	Abnormality of the anterior pituitary	367	AR	OMIM:300068
HP:0011747	Abnormality of the anterior pituitary	84733	CBX2	OMIM:613080
HP:0011747	Abnormality of the anterior pituitary	2661	GDF9	OMIM:618014
HP:0011747	Abnormality of the anterior pituitary	4439	MSH5	OMIM:617442
HP:0011747	Abnormality of the anterior pituitary	55012	PPP2R3C	OMIM:618419
HP:0011747	Abnormality of the anterior pituitary	344018	FIGLA	OMIM:612310
HP:0011747	Abnormality of the anterior pituitary	158401	SHOC1	OMIM:619949
HP:0011747	Abnormality of the anterior pituitary	3953	LEPR	OMIM:614963
HP:0011747	Abnormality of the anterior pituitary	3953	LEPR	ORPHA:179494
HP:0011747	Abnormality of the anterior pituitary	3952	LEP	ORPHA:66628
HP:0011747	Abnormality of the anterior pituitary	84196	USP48	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	7157	TP53	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	9101	USP8	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	64072	CDH23	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	2908	NR3C1	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	673	BRAF	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	546	ATRX	ORPHA:96253
HP:0011747	Abnormality of the anterior pituitary	5456	POU3F4	ORPHA:1435
HP:0011747	Abnormality of the anterior pituitary	2627	GATA6	ORPHA:2255
HP:0011747	Abnormality of the anterior pituitary	6496	SIX3	OMIM:157170
HP:0011747	Abnormality of the anterior pituitary	8820	HESX1	OMIM:182230
HP:0011747	Abnormality of the anterior pituitary	8820	HESX1	ORPHA:226307
HP:0011747	Abnormality of the anterior pituitary	8820	HESX1	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	8820	HESX1	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	55599	RNPC3	OMIM:618160
HP:0011747	Abnormality of the anterior pituitary	4841	NONO	ORPHA:466791
HP:0011747	Abnormality of the anterior pituitary	9791	PTDSS1	OMIM:151050
HP:0011747	Abnormality of the anterior pituitary	55131	RBM28	ORPHA:157954
HP:0011747	Abnormality of the anterior pituitary	6638	SNRPN	ORPHA:177904
HP:0011747	Abnormality of the anterior pituitary	6638	SNRPN	ORPHA:177901
HP:0011747	Abnormality of the anterior pituitary	6638	SNRPN	ORPHA:177907
HP:0011747	Abnormality of the anterior pituitary	6638	SNRPN	ORPHA:98754
HP:0011747	Abnormality of the anterior pituitary	4692	NDN	ORPHA:177904
HP:0011747	Abnormality of the anterior pituitary	4692	NDN	ORPHA:177901
HP:0011747	Abnormality of the anterior pituitary	4692	NDN	ORPHA:98754
HP:0011747	Abnormality of the anterior pituitary	54551	MAGEL2	ORPHA:177904
HP:0011747	Abnormality of the anterior pituitary	54551	MAGEL2	ORPHA:177901
HP:0011747	Abnormality of the anterior pituitary	54551	MAGEL2	ORPHA:98754
HP:0011747	Abnormality of the anterior pituitary	4948	OCA2	ORPHA:177904
HP:0011747	Abnormality of the anterior pituitary	4948	OCA2	ORPHA:177901
HP:0011747	Abnormality of the anterior pituitary	4948	OCA2	ORPHA:98754
HP:0011747	Abnormality of the anterior pituitary	79989	IFT56	OMIM:619534
HP:0011747	Abnormality of the anterior pituitary	23312	DMXL2	ORPHA:453533
HP:0011747	Abnormality of the anterior pituitary	23312	DMXL2	OMIM:616113
HP:0011747	Abnormality of the anterior pituitary	5626	PROP1	ORPHA:226307
HP:0011747	Abnormality of the anterior pituitary	5626	PROP1	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	5626	PROP1	ORPHA:90695
HP:0011747	Abnormality of the anterior pituitary	89884	LHX4	ORPHA:226307
HP:0011747	Abnormality of the anterior pituitary	89884	LHX4	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	8022	LHX3	ORPHA:226307
HP:0011747	Abnormality of the anterior pituitary	8022	LHX3	OMIM:221750
HP:0011747	Abnormality of the anterior pituitary	8022	LHX3	ORPHA:231720
HP:0011747	Abnormality of the anterior pituitary	5449	POU1F1	ORPHA:226307
HP:0011747	Abnormality of the anterior pituitary	5449	POU1F1	OMIM:613038
HP:0011747	Abnormality of the anterior pituitary	5449	POU1F1	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	2688	GH1	OMIM:173100
HP:0011747	Abnormality of the anterior pituitary	57688	ZSWIM6	ORPHA:1827
HP:0011747	Abnormality of the anterior pituitary	2736	GLI2	OMIM:610829
HP:0011747	Abnormality of the anterior pituitary	2736	GLI2	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	2736	GLI2	OMIM:615849
HP:0011747	Abnormality of the anterior pituitary	3170	FOXA2	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	5015	OTX2	ORPHA:95494
HP:0011747	Abnormality of the anterior pituitary	5015	OTX2	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	4524	MTHFR	ORPHA:563612
HP:0011747	Abnormality of the anterior pituitary	57216	VANGL2	ORPHA:563612
HP:0011747	Abnormality of the anterior pituitary	6926	TBX3	OMIM:181450
HP:0011747	Abnormality of the anterior pituitary	8567	MADD	OMIM:619004
HP:0011747	Abnormality of the anterior pituitary	2692	GHRHR	OMIM:618157
HP:0011747	Abnormality of the anterior pituitary	283987	HID1	OMIM:619983
HP:0011747	Abnormality of the anterior pituitary	6658	SOX3	ORPHA:67045
HP:0011747	Abnormality of the anterior pituitary	6658	SOX3	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	6658	SOX3	ORPHA:90695
HP:0011747	Abnormality of the anterior pituitary	9578	CDC42BPB	OMIM:619841
HP:0011747	Abnormality of the anterior pituitary	9915	ARNT2	OMIM:615926
HP:0011747	Abnormality of the anterior pituitary	9915	ARNT2	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	4990	SIX6	OMIM:206900
HP:0011747	Abnormality of the anterior pituitary	6657	SOX2	OMIM:206900
HP:0011747	Abnormality of the anterior pituitary	6657	SOX2	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	2260	FGFR1	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	128674	PROKR2	ORPHA:3157
HP:0011747	Abnormality of the anterior pituitary	9095	TBX19	OMIM:201400
HP:0011747	Abnormality of the anterior pituitary	84133	ZNRF3	ORPHA:1501
HP:0011747	Abnormality of the anterior pituitary	1029	CDKN2A	ORPHA:1501
HP:0011747	Abnormality of the anterior pituitary	3284	HSD3B2	ORPHA:90791
HP:0011747	Abnormality of the anterior pituitary	4173	MCM4	OMIM:609981
HP:0011747	Abnormality of the anterior pituitary	215	ABCD1	ORPHA:139399
HP:0011747	Abnormality of the anterior pituitary	4221	MEN1	ORPHA:652
HP:0011747	Abnormality of the anterior pituitary	1027	CDKN1B	ORPHA:652
HP:0011747	Abnormality of the anterior pituitary	1026	CDKN1A	ORPHA:652
HP:0011747	Abnormality of the anterior pituitary	1030	CDKN2B	ORPHA:652
HP:0011747	Abnormality of the anterior pituitary	1031	CDKN2C	ORPHA:652
HP:0011747	Abnormality of the anterior pituitary	51726	DNAJB11	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	23193	GANAB	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	5310	PKD1	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	5311	PKD2	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	29880	ALG5	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	9742	IFT140	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	79796	ALG9	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	80114	BICC1	ORPHA:730
HP:0011747	Abnormality of the anterior pituitary	9049	AIP	ORPHA:99725
HP:0011747	Abnormality of the anterior pituitary	9049	AIP	ORPHA:963
HP:0011747	Abnormality of the anterior pituitary	9049	AIP	OMIM:102200
HP:0011747	Abnormality of the anterior pituitary	83550	GPR101	ORPHA:963
HP:0011747	Abnormality of the anterior pituitary	5573	PRKAR1A	ORPHA:1359
HP:0011747	Abnormality of the anterior pituitary	50940	PDE11A	ORPHA:1359
HP:0011747	Abnormality of the anterior pituitary	3043	HBB	ORPHA:231214
HP:0011747	Abnormality of the anterior pituitary	3043	HBB	ORPHA:231226
HP:0011747	Abnormality of the anterior pituitary	2193	FARSA	OMIM:619013
HP:0011747	Abnormality of the anterior pituitary	116519	APOA5	OMIM:145750
HP:0011747	Abnormality of the anterior pituitary	80324	PUS1	OMIM:600462
HP:0011747	Abnormality of the anterior pituitary	257	ALX3	ORPHA:391474
HP:0011747	Abnormality of the anterior pituitary	134218	DNAJC21	ORPHA:811
HP:0011747	Abnormality of the anterior pituitary	79631	EFL1	ORPHA:811
HP:0011747	Abnormality of the anterior pituitary	51119	SBDS	ORPHA:811
HP:0011747	Abnormality of the anterior pituitary	6729	SRP54	ORPHA:811
HP:0011747	Abnormality of the anterior pituitary	6875	TAF4B	OMIM:615841
HP:0011747	Abnormality of the anterior pituitary	84225	ZMYND15	OMIM:615842
HP:0011747	Abnormality of the anterior pituitary	2737	GLI3	ORPHA:672
HP:0011747	Abnormality of the anterior pituitary	93953	GCNA	OMIM:301077
HP:0011748	Adrenocorticotropic hormone deficiency	2737	GLI3	ORPHA:672
HP:0011748	Adrenocorticotropic hormone deficiency	5443	POMC	OMIM:609734
HP:0011748	Adrenocorticotropic hormone deficiency	9095	TBX19	OMIM:201400
HP:0011748	Adrenocorticotropic hormone deficiency	8022	LHX3	ORPHA:231720
HP:0011748	Adrenocorticotropic hormone deficiency	64072	CDH23	ORPHA:91347
HP:0011748	Adrenocorticotropic hormone deficiency	64072	CDH23	ORPHA:2965
HP:0011748	Adrenocorticotropic hormone deficiency	4221	MEN1	ORPHA:2965
HP:0011748	Adrenocorticotropic hormone deficiency	9049	AIP	ORPHA:2965
HP:0011748	Adrenocorticotropic hormone deficiency	9915	ARNT2	OMIM:615926
HP:0011748	Adrenocorticotropic hormone deficiency	5456	POU3F4	ORPHA:1435
HP:0011748	Adrenocorticotropic hormone deficiency	84133	ZNRF3	ORPHA:1501
HP:0011748	Adrenocorticotropic hormone deficiency	7157	TP53	ORPHA:1501
HP:0011748	Adrenocorticotropic hormone deficiency	5573	PRKAR1A	ORPHA:1501
HP:0011748	Adrenocorticotropic hormone deficiency	1499	CTNNB1	ORPHA:1501
HP:0011748	Adrenocorticotropic hormone deficiency	1029	CDKN2A	ORPHA:1501
HP:0011748	Adrenocorticotropic hormone deficiency	7015	TERT	ORPHA:1501
HP:0011749	Adrenocorticotropic hormone excess	1583	CYP11A1	ORPHA:289548
HP:0011749	Adrenocorticotropic hormone excess	1583	CYP11A1	ORPHA:168558
HP:0011749	Adrenocorticotropic hormone excess	1583	CYP11A1	OMIM:613743
HP:0011749	Adrenocorticotropic hormone excess	3284	HSD3B2	ORPHA:90791
HP:0011749	Adrenocorticotropic hormone excess	4173	MCM4	OMIM:609981
HP:0011749	Adrenocorticotropic hormone excess	1586	CYP17A1	ORPHA:90793
HP:0011749	Adrenocorticotropic hormone excess	215	ABCD1	ORPHA:139399
HP:0011743	Adrenal gland agenesis	7473	WNT3	OMIM:273395
HP:0011743	Adrenal gland agenesis	54361	WNT4	OMIM:611812
HP:0001530	Mild postnatal growth retardation	6775	STAT4	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	3560	IL2RB	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	79722	ANKRD55	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	26191	PTPN22	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	919	CD247	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	3559	IL2RA	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	5771	PTPN2	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	51651	PTRH2	ORPHA:456312
HP:0001530	Mild postnatal growth retardation	146059	CDAN1	OMIM:224120
HP:0001530	Mild postnatal growth retardation	1161	ERCC8	ORPHA:90324
HP:0001530	Mild postnatal growth retardation	2074	ERCC6	ORPHA:90324
HP:0001530	Mild postnatal growth retardation	9508	ADAMTS3	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	147372	CCBE1	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	147372	CCBE1	OMIM:235510
HP:0001530	Mild postnatal growth retardation	79633	FAT4	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	3483	IGFALS	OMIM:615961
HP:0001530	Mild postnatal growth retardation	5573	PRKAR1A	OMIM:101800
HP:0001531	Failure to thrive in infancy	5979	RET	OMIM:162300
HP:0001531	Failure to thrive in infancy	5979	RET	ORPHA:388
HP:0001531	Failure to thrive in infancy	1497	CTNS	OMIM:219800
HP:0001531	Failure to thrive in infancy	90268	OTULIN	OMIM:617099
HP:0001531	Failure to thrive in infancy	10043	TOM1	OMIM:619510
HP:0001531	Failure to thrive in infancy	157680	VPS13B	ORPHA:193
HP:0001531	Failure to thrive in infancy	3043	HBB	ORPHA:231214
HP:0001531	Failure to thrive in infancy	3043	HBB	ORPHA:231226
HP:0001531	Failure to thrive in infancy	5167	ENPP1	ORPHA:51608
HP:0001531	Failure to thrive in infancy	368	ABCC6	ORPHA:51608
HP:0001531	Failure to thrive in infancy	1859	DYRK1A	ORPHA:268261
HP:0001531	Failure to thrive in infancy	1859	DYRK1A	OMIM:614104
HP:0001531	Failure to thrive in infancy	7355	SLC35A2	ORPHA:356961
HP:0001531	Failure to thrive in infancy	6804	STX1A	ORPHA:904
HP:0001531	Failure to thrive in infancy	7461	CLIP2	ORPHA:904
HP:0001531	Failure to thrive in infancy	84277	DNAJC30	ORPHA:904
HP:0001531	Failure to thrive in infancy	8468	FKBP6	ORPHA:904
HP:0001531	Failure to thrive in infancy	5982	RFC2	ORPHA:904
HP:0001531	Failure to thrive in infancy	2969	GTF2I	ORPHA:904
HP:0001531	Failure to thrive in infancy	3984	LIMK1	ORPHA:904
HP:0001531	Failure to thrive in infancy	9569	GTF2IRD1	ORPHA:904
HP:0001531	Failure to thrive in infancy	155382	VPS37D	ORPHA:904
HP:0001531	Failure to thrive in infancy	155368	METTL27	ORPHA:904
HP:0001531	Failure to thrive in infancy	114049	BUD23	ORPHA:904
HP:0001531	Failure to thrive in infancy	7458	EIF4H	ORPHA:904
HP:0001531	Failure to thrive in infancy	84163	GTF2IRD2	ORPHA:904
HP:0001531	Failure to thrive in infancy	9275	BCL7B	ORPHA:904
HP:0001531	Failure to thrive in infancy	26608	TBL2	ORPHA:904
HP:0001531	Failure to thrive in infancy	653361	NCF1	ORPHA:904
HP:0001531	Failure to thrive in infancy	135886	TMEM270	ORPHA:904
HP:0001531	Failure to thrive in infancy	51085	MLXIPL	ORPHA:904
HP:0001531	Failure to thrive in infancy	51085	MLXIPL	OMIM:194050
HP:0001531	Failure to thrive in infancy	9031	BAZ1B	ORPHA:904
HP:0001531	Failure to thrive in infancy	2006	ELN	ORPHA:904
HP:0001531	Failure to thrive in infancy	2006	ELN	OMIM:194050
HP:0001531	Failure to thrive in infancy	5880	RAC2	OMIM:618987
HP:0001531	Failure to thrive in infancy	285175	UNC80	OMIM:616801
HP:0001531	Failure to thrive in infancy	5836	PYGL	OMIM:232700
HP:0001531	Failure to thrive in infancy	3032	HADHB	ORPHA:746
HP:0001531	Failure to thrive in infancy	3030	HADHA	ORPHA:746
HP:0001531	Failure to thrive in infancy	8405	SPOP	OMIM:618829
HP:0001531	Failure to thrive in infancy	7681	MKRN3	OMIM:176270
HP:0001531	Failure to thrive in infancy	3653	IPW	OMIM:176270
HP:0001531	Failure to thrive in infancy	54551	MAGEL2	OMIM:176270
HP:0001531	Failure to thrive in infancy	54551	MAGEL2	OMIM:615547
HP:0001531	Failure to thrive in infancy	791114	PWRN1	OMIM:176270
HP:0001531	Failure to thrive in infancy	100033413	SNORD116-1	OMIM:176270
HP:0001531	Failure to thrive in infancy	8924	HERC2	OMIM:176270
HP:0001531	Failure to thrive in infancy	145624	PWAR1	OMIM:176270
HP:0001531	Failure to thrive in infancy	23742	NPAP1	OMIM:176270
HP:0001531	Failure to thrive in infancy	338433	SNORD115-1	OMIM:176270
HP:0001531	Failure to thrive in infancy	215	ABCD1	ORPHA:388
HP:0001531	Failure to thrive in infancy	2668	GDNF	ORPHA:388
HP:0001531	Failure to thrive in infancy	6608	SMO	ORPHA:388
HP:0001531	Failure to thrive in infancy	1889	ECE1	ORPHA:388
HP:0001531	Failure to thrive in infancy	6720	SREBF1	ORPHA:388
HP:0001531	Failure to thrive in infancy	1908	EDN3	ORPHA:388
HP:0001531	Failure to thrive in infancy	223117	SEMA3D	ORPHA:388
HP:0001531	Failure to thrive in infancy	538	ATP7A	ORPHA:388
HP:0001531	Failure to thrive in infancy	1910	EDNRB	ORPHA:388
HP:0001531	Failure to thrive in infancy	10512	SEMA3C	ORPHA:388
HP:0001531	Failure to thrive in infancy	2064	ERBB2	ORPHA:388
HP:0001531	Failure to thrive in infancy	2065	ERBB3	ORPHA:388
HP:0001531	Failure to thrive in infancy	4902	NRTN	ORPHA:388
HP:0001531	Failure to thrive in infancy	10743	RAI1	ORPHA:477817
HP:0001531	Failure to thrive in infancy	10743	RAI1	ORPHA:819
HP:0001531	Failure to thrive in infancy	6340	SCNN1G	ORPHA:171876
HP:0001531	Failure to thrive in infancy	6337	SCNN1A	ORPHA:171876
HP:0001531	Failure to thrive in infancy	6338	SCNN1B	ORPHA:171876
HP:0001531	Failure to thrive in infancy	2222	FDFT1	OMIM:618156
HP:0001531	Failure to thrive in infancy	83737	ITCH	OMIM:613385
HP:0001531	Failure to thrive in infancy	83737	ITCH	ORPHA:228426
HP:0001531	Failure to thrive in infancy	4056	LTC4S	OMIM:614037
HP:0001531	Failure to thrive in infancy	2260	FGFR1	ORPHA:2645
HP:0001531	Failure to thrive in infancy	3557	IL1RN	OMIM:612852
HP:0001531	Failure to thrive in infancy	2314	FLII	ORPHA:819
HP:0001531	Failure to thrive in infancy	23096	IQSEC2	ORPHA:819
HP:0001531	Failure to thrive in infancy	10522	DEAF1	ORPHA:819
HP:0001531	Failure to thrive in infancy	10165	SLC25A13	ORPHA:247598
HP:0001531	Failure to thrive in infancy	29072	SETD2	OMIM:620155
HP:0001531	Failure to thrive in infancy	9382	COG1	OMIM:611209
HP:0001531	Failure to thrive in infancy	3718	JAK3	ORPHA:35078
HP:0001531	Failure to thrive in infancy	2067	ERCC1	OMIM:610758
HP:0001531	Failure to thrive in infancy	25839	COG4	ORPHA:263501
HP:0001531	Failure to thrive in infancy	5422	POLA1	OMIM:301220
HP:0001531	Failure to thrive in infancy	56992	KIF15	ORPHA:261323
HP:0001531	Failure to thrive in infancy	1439	CSF2RB	ORPHA:264675
HP:0001531	Failure to thrive in infancy	1438	CSF2RA	ORPHA:264675
HP:0001531	Failure to thrive in infancy	7084	TK2	ORPHA:254875
HP:0001531	Failure to thrive in infancy	5699	PSMB10	OMIM:619175
HP:0001531	Failure to thrive in infancy	6651	SON	ORPHA:500150
HP:0001531	Failure to thrive in infancy	10463	SLC30A9	OMIM:617595
HP:0001531	Failure to thrive in infancy	27086	FOXP1	OMIM:613670
HP:0001531	Failure to thrive in infancy	9401	RECQL4	ORPHA:1225
HP:0001531	Failure to thrive in infancy	8565	YARS1	OMIM:619418
HP:0001531	Failure to thrive in infancy	50943	FOXP3	ORPHA:37042
HP:0001531	Failure to thrive in infancy	26007	TKFC	OMIM:618805
HP:0001531	Failure to thrive in infancy	5604	MAP2K1	ORPHA:1340
HP:0001531	Failure to thrive in infancy	5604	MAP2K1	OMIM:163950
HP:0001531	Failure to thrive in infancy	5605	MAP2K2	ORPHA:1340
HP:0001531	Failure to thrive in infancy	3845	KRAS	ORPHA:1340
HP:0001531	Failure to thrive in infancy	673	BRAF	ORPHA:1340
HP:0001531	Failure to thrive in infancy	673	BRAF	OMIM:163950
HP:0001531	Failure to thrive in infancy	64116	SLC39A8	ORPHA:468699
HP:0001531	Failure to thrive in infancy	10225	CD96	ORPHA:1308
HP:0001531	Failure to thrive in infancy	3431	SP110	ORPHA:79124
HP:0001531	Failure to thrive in infancy	83480	PUS3	ORPHA:488627
HP:0001531	Failure to thrive in infancy	9896	FIG4	OMIM:216340
HP:0001531	Failure to thrive in infancy	3265	HRAS	ORPHA:3071
HP:0001531	Failure to thrive in infancy	6567	SLC16A2	ORPHA:59
HP:0001531	Failure to thrive in infancy	9377	COX5A	OMIM:619064
HP:0001531	Failure to thrive in infancy	56922	MCCC1	ORPHA:6
HP:0001531	Failure to thrive in infancy	64087	MCCC2	ORPHA:6
HP:0001531	Failure to thrive in infancy	29968	PSAT1	ORPHA:284417
HP:0001531	Failure to thrive in infancy	84842	HPDL	OMIM:619026
HP:0001531	Failure to thrive in infancy	56160	NSMCE3	OMIM:617241
HP:0001531	Failure to thrive in infancy	5718	PSMD12	ORPHA:529962
HP:0001531	Failure to thrive in infancy	2186	BPTF	ORPHA:529962
HP:0001531	Failure to thrive in infancy	84342	COG8	OMIM:611182
HP:0001531	Failure to thrive in infancy	4697	NDUFA4	OMIM:619065
HP:0001531	Failure to thrive in infancy	833	CARS1	OMIM:618891
HP:0001531	Failure to thrive in infancy	7043	TGFB3	OMIM:615582
HP:0001531	Failure to thrive in infancy	9276	COPB2	OMIM:617800
HP:0001531	Failure to thrive in infancy	4654	MYOD1	OMIM:618975
HP:0001531	Failure to thrive in infancy	23495	TNFRSF13B	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4790	NFKB1	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4791	NFKB2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	115650	TNFRSF13C	ORPHA:1572
HP:0001531	Failure to thrive in infancy	1380	CR2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	8742	TNFSF12	ORPHA:1572
HP:0001531	Failure to thrive in infancy	5580	PRKCD	ORPHA:1572
HP:0001531	Failure to thrive in infancy	930	CD19	ORPHA:1572
HP:0001531	Failure to thrive in infancy	29851	ICOS	ORPHA:1572
HP:0001531	Failure to thrive in infancy	931	MS4A1	ORPHA:1572
HP:0001531	Failure to thrive in infancy	975	CD81	ORPHA:1572
HP:0001531	Failure to thrive in infancy	359948	IRF2BP2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4598	MVK	OMIM:610377
HP:0001531	Failure to thrive in infancy	3559	IL2RA	OMIM:606367
HP:0001531	Failure to thrive in infancy	26040	SETBP1	ORPHA:798
HP:0001531	Failure to thrive in infancy	5781	PTPN11	OMIM:163950
HP:0001827	Genital tract atresia	7490	WT1	ORPHA:3097
HP:0001827	Genital tract atresia	51626	DYNC2LI1	OMIM:617088
HP:0001827	Genital tract atresia	341640	FREM2	ORPHA:2052
HP:0001827	Genital tract atresia	80144	FRAS1	ORPHA:2052
HP:0001827	Genital tract atresia	80144	FRAS1	OMIM:219000
HP:0001827	Genital tract atresia	23426	GRIP1	ORPHA:2052
HP:0001827	Genital tract atresia	8516	ITGA8	OMIM:191830
HP:0001827	Genital tract atresia	158326	FREM1	OMIM:248450
HP:0001827	Genital tract atresia	2625	GATA3	ORPHA:2237
HP:0001827	Genital tract atresia	9928	KIF14	OMIM:616258
HP:0001827	Genital tract atresia	9928	KIF14	OMIM:617914
HP:0001827	Genital tract atresia	5447	POR	OMIM:207410
HP:0001827	Genital tract atresia	2263	FGFR2	OMIM:207410
HP:0001827	Genital tract atresia	2263	FGFR2	OMIM:101200
HP:0001827	Genital tract atresia	166379	BBS12	OMIM:615989
HP:0001827	Genital tract atresia	8195	MKKS	OMIM:236700
HP:0001827	Genital tract atresia	8195	MKKS	OMIM:605231
HP:0001827	Genital tract atresia	84100	ARL6	OMIM:209900
HP:0001827	Genital tract atresia	79140	CCDC28B	OMIM:209900
HP:0001827	Genital tract atresia	582	BBS1	OMIM:209900
HP:0001827	Genital tract atresia	7473	WNT3	OMIM:273395
HP:0001827	Genital tract atresia	7473	WNT3	ORPHA:3301
HP:0001827	Genital tract atresia	340419	RSPO2	ORPHA:3301
HP:0008921	Neonatal short-limb short stature	5566	PRKACA	ORPHA:289
HP:0008921	Neonatal short-limb short stature	5567	PRKACB	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2735	GLI1	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2121	EVC	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2121	EVC	OMIM:225500
HP:0008921	Neonatal short-limb short stature	51626	DYNC2LI1	ORPHA:289
HP:0008921	Neonatal short-limb short stature	132884	EVC2	ORPHA:289
HP:0008921	Neonatal short-limb short stature	132884	EVC2	OMIM:225500
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	OMIM:600972
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	OMIM:222600
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	ORPHA:628
HP:0008921	Neonatal short-limb short stature	1280	COL2A1	OMIM:151210
HP:0008921	Neonatal short-limb short stature	5745	PTH1R	ORPHA:50945
HP:0008921	Neonatal short-limb short stature	6023	RMRP	OMIM:250250
HP:0008921	Neonatal short-limb short stature	2261	FGFR3	OMIM:100800
HP:0008921	Neonatal short-limb short stature	6662	SOX9	OMIM:114290
HP:0008921	Neonatal short-limb short stature	1277	COL1A1	OMIM:259420
HP:0008921	Neonatal short-limb short stature	1278	COL1A2	OMIM:259420
HP:0001537	Umbilical hernia	23394	ADNP	ORPHA:404448
HP:0001537	Umbilical hernia	341640	FREM2	ORPHA:2052
HP:0001537	Umbilical hernia	80144	FRAS1	ORPHA:2052
HP:0001537	Umbilical hernia	23426	GRIP1	ORPHA:2052
HP:0001537	Umbilical hernia	55503	TRPV6	OMIM:618188
HP:0001537	Umbilical hernia	8425	LTBP4	OMIM:613177
HP:0001537	Umbilical hernia	145173	B3GLCT	ORPHA:709
HP:0001537	Umbilical hernia	145173	B3GLCT	OMIM:261540
HP:0001537	Umbilical hernia	1788	DNMT3A	ORPHA:404443
HP:0001537	Umbilical hernia	1788	DNMT3A	OMIM:615879
HP:0001537	Umbilical hernia	4758	NEU1	ORPHA:93399
HP:0001537	Umbilical hernia	4758	NEU1	ORPHA:93400
HP:0001537	Umbilical hernia	64324	NSD1	ORPHA:821
HP:0001537	Umbilical hernia	29072	SETD2	ORPHA:821
HP:0001537	Umbilical hernia	10297	APC2	ORPHA:821
HP:0001537	Umbilical hernia	4487	MSX1	ORPHA:199302
HP:0001537	Umbilical hernia	5818	NECTIN1	ORPHA:199302
HP:0001537	Umbilical hernia	8626	TP63	ORPHA:199302
HP:0001537	Umbilical hernia	8626	TP63	ORPHA:93930
HP:0001537	Umbilical hernia	3664	IRF6	ORPHA:199302
HP:0001537	Umbilical hernia	4125	MAN2B1	ORPHA:309282
HP:0001537	Umbilical hernia	7849	PAX8	OMIM:218700
HP:0001537	Umbilical hernia	7849	PAX8	ORPHA:95712
HP:0001537	Umbilical hernia	4281	MID1	OMIM:300000
HP:0001537	Umbilical hernia	4281	MID1	ORPHA:2745
HP:0001537	Umbilical hernia	3481	IGF2	ORPHA:231144
HP:0001537	Umbilical hernia	283120	H19	ORPHA:231144
HP:0001537	Umbilical hernia	374654	KIF7	OMIM:200990
HP:0001537	Umbilical hernia	2737	GLI3	ORPHA:380
HP:0001537	Umbilical hernia	2737	GLI3	ORPHA:672
HP:0001537	Umbilical hernia	2737	GLI3	OMIM:175700
HP:0001537	Umbilical hernia	1855	DVL1	OMIM:616331
HP:0001537	Umbilical hernia	1855	DVL1	ORPHA:3107
HP:0001537	Umbilical hernia	1855	DVL1	OMIM:180700
HP:0001537	Umbilical hernia	64412	GZF1	OMIM:617662
HP:0001537	Umbilical hernia	283489	CHAMP1	OMIM:616579
HP:0001537	Umbilical hernia	72	ACTG2	ORPHA:2604
HP:0001537	Umbilical hernia	72	ACTG2	ORPHA:2241
HP:0001537	Umbilical hernia	23384	SPECC1L	ORPHA:1519
HP:0001537	Umbilical hernia	3764	KCNJ8	ORPHA:1517
HP:0001537	Umbilical hernia	10060	ABCC9	ORPHA:1517
HP:0001537	Umbilical hernia	10060	ABCC9	OMIM:239850
HP:0001537	Umbilical hernia	79158	GNPTAB	OMIM:252500
HP:0001537	Umbilical hernia	79158	GNPTAB	ORPHA:576
HP:0001537	Umbilical hernia	7253	TSHR	ORPHA:90673
HP:0001537	Umbilical hernia	7252	TSHB	ORPHA:90674
HP:0001537	Umbilical hernia	7252	TSHB	OMIM:275100
HP:0001537	Umbilical hernia	29957	SLC25A24	ORPHA:2963
HP:0001537	Umbilical hernia	29957	SLC25A24	ORPHA:2095
HP:0001537	Umbilical hernia	29957	SLC25A24	OMIM:612289
HP:0001537	Umbilical hernia	1146	CHRNG	OMIM:265000
HP:0001537	Umbilical hernia	1146	CHRNG	ORPHA:2990
HP:0001537	Umbilical hernia	57492	ARID1B	OMIM:135900
HP:0001537	Umbilical hernia	54453	RIN2	OMIM:613075
HP:0001537	Umbilical hernia	54453	RIN2	ORPHA:217335
HP:0001537	Umbilical hernia	50814	NSDHL	OMIM:308050
HP:0001537	Umbilical hernia	23545	ATP6V0A2	ORPHA:2834
HP:0001537	Umbilical hernia	23545	ATP6V0A2	OMIM:278250
HP:0001537	Umbilical hernia	4853	NOTCH2	OMIM:102500
HP:0001537	Umbilical hernia	4853	NOTCH2	ORPHA:955
HP:0001537	Umbilical hernia	3423	IDS	ORPHA:217085
HP:0001537	Umbilical hernia	3423	IDS	OMIM:309900
HP:0001537	Umbilical hernia	3423	IDS	ORPHA:217093
HP:0001537	Umbilical hernia	9968	MED12	ORPHA:93932
HP:0001537	Umbilical hernia	9968	MED12	OMIM:305450
HP:0001537	Umbilical hernia	9968	MED12	OMIM:301068
HP:0001537	Umbilical hernia	64359	NXN	ORPHA:1507
HP:0001537	Umbilical hernia	4920	ROR2	ORPHA:1507
HP:0001537	Umbilical hernia	4920	ROR2	OMIM:268310
HP:0001537	Umbilical hernia	672	BRCA1	ORPHA:84
HP:0001537	Umbilical hernia	10459	MAD2L2	ORPHA:84
HP:0001537	Umbilical hernia	7516	XRCC2	ORPHA:84
HP:0001537	Umbilical hernia	29089	UBE2T	ORPHA:84
HP:0001537	Umbilical hernia	675	BRCA2	ORPHA:84
HP:0001537	Umbilical hernia	55120	FANCL	ORPHA:84
HP:0001537	Umbilical hernia	2177	FANCD2	ORPHA:84
HP:0001537	Umbilical hernia	2175	FANCA	ORPHA:84
HP:0001537	Umbilical hernia	2187	FANCB	ORPHA:84
HP:0001537	Umbilical hernia	2176	FANCC	ORPHA:84
HP:0001537	Umbilical hernia	2178	FANCE	ORPHA:84
HP:0001537	Umbilical hernia	2188	FANCF	ORPHA:84
HP:0001537	Umbilical hernia	2189	FANCG	ORPHA:84
HP:0001537	Umbilical hernia	5888	RAD51	ORPHA:84
HP:0001537	Umbilical hernia	5889	RAD51C	ORPHA:84
HP:0001537	Umbilical hernia	55159	RFWD3	ORPHA:84
HP:0001537	Umbilical hernia	83990	BRIP1	ORPHA:84
HP:0001537	Umbilical hernia	57697	FANCM	ORPHA:84
HP:0001537	Umbilical hernia	79728	PALB2	ORPHA:84
HP:0001537	Umbilical hernia	84464	SLX4	ORPHA:84
HP:0001537	Umbilical hernia	2072	ERCC4	ORPHA:84
HP:0001537	Umbilical hernia	55215	FANCI	ORPHA:84
HP:0001537	Umbilical hernia	3670	ISL1	ORPHA:93930
HP:0001537	Umbilical hernia	6598	SMARCB1	OMIM:614608
HP:0001537	Umbilical hernia	2697	GJA1	ORPHA:2710
HP:0001537	Umbilical hernia	10555	AGPAT2	OMIM:608594
HP:0001537	Umbilical hernia	1277	COL1A1	ORPHA:287
HP:0001537	Umbilical hernia	1289	COL5A1	ORPHA:287
HP:0001537	Umbilical hernia	1289	COL5A1	OMIM:130000
HP:0001537	Umbilical hernia	1290	COL5A2	ORPHA:287
HP:0001537	Umbilical hernia	6899	TBX1	OMIM:188400
HP:0001537	Umbilical hernia	6899	TBX1	OMIM:192430
HP:0001537	Umbilical hernia	6899	TBX1	ORPHA:567
HP:0001537	Umbilical hernia	1281	COL3A1	ORPHA:286
HP:0001537	Umbilical hernia	8726	EED	OMIM:617561
HP:0001537	Umbilical hernia	22872	SEC31A	OMIM:618651
HP:0001537	Umbilical hernia	54968	TMEM70	OMIM:614052
HP:0001537	Umbilical hernia	11107	PRDM5	OMIM:614170
HP:0001537	Umbilical hernia	26053	AUTS2	ORPHA:352490
HP:0001537	Umbilical hernia	26053	AUTS2	OMIM:615834
HP:0001537	Umbilical hernia	3070	HELLS	ORPHA:2268
HP:0001537	Umbilical hernia	1789	DNMT3B	ORPHA:2268
HP:0001537	Umbilical hernia	83879	CDCA7	ORPHA:2268
HP:0001537	Umbilical hernia	9841	ZBTB24	ORPHA:2268
HP:0001537	Umbilical hernia	1009	CDH11	ORPHA:1299
HP:0001537	Umbilical hernia	1954	MEGF8	OMIM:614976
HP:0001537	Umbilical hernia	1954	MEGF8	ORPHA:65759
HP:0001537	Umbilical hernia	649	BMP1	OMIM:614856
HP:0001537	Umbilical hernia	55636	CHD7	OMIM:214800
HP:0001537	Umbilical hernia	4036	LRP2	ORPHA:2143
HP:0001537	Umbilical hernia	4036	LRP2	OMIM:222448
HP:0001537	Umbilical hernia	3425	IDUA	OMIM:607014
HP:0001537	Umbilical hernia	3425	IDUA	OMIM:607015
HP:0001537	Umbilical hernia	175	AGA	ORPHA:93
HP:0001537	Umbilical hernia	165	AEBP1	ORPHA:536532
HP:0001537	Umbilical hernia	165	AEBP1	OMIM:618000
HP:0001537	Umbilical hernia	1947	EFNB1	OMIM:304110
HP:0001537	Umbilical hernia	1836	SLC26A2	OMIM:600972
HP:0001537	Umbilical hernia	1836	SLC26A2	ORPHA:93298
HP:0001537	Umbilical hernia	4952	OCRL	OMIM:300555
HP:0001537	Umbilical hernia	4952	OCRL	ORPHA:534
HP:0001537	Umbilical hernia	23512	SUZ12	OMIM:618786
HP:0001537	Umbilical hernia	54914	FOCAD	OMIM:619991
HP:0001537	Umbilical hernia	5626	PROP1	ORPHA:226307
HP:0001537	Umbilical hernia	89884	LHX4	ORPHA:226307
HP:0001537	Umbilical hernia	8022	LHX3	ORPHA:226307
HP:0001537	Umbilical hernia	5449	POU1F1	ORPHA:226307
HP:0001537	Umbilical hernia	8820	HESX1	ORPHA:226307
HP:0001537	Umbilical hernia	1857	DVL3	ORPHA:3107
HP:0001537	Umbilical hernia	7474	WNT5A	ORPHA:3107
HP:0001537	Umbilical hernia	7474	WNT5A	OMIM:180700
HP:0001537	Umbilical hernia	2535	FZD2	ORPHA:3107
HP:0001537	Umbilical hernia	2627	GATA6	ORPHA:2255
HP:0001537	Umbilical hernia	2627	GATA6	OMIM:600001
HP:0001537	Umbilical hernia	6804	STX1A	ORPHA:904
HP:0001537	Umbilical hernia	7461	CLIP2	ORPHA:904
HP:0001537	Umbilical hernia	84277	DNAJC30	ORPHA:904
HP:0001537	Umbilical hernia	8468	FKBP6	ORPHA:904
HP:0001537	Umbilical hernia	5982	RFC2	ORPHA:904
HP:0001537	Umbilical hernia	2969	GTF2I	ORPHA:904
HP:0001537	Umbilical hernia	3984	LIMK1	ORPHA:904
HP:0001537	Umbilical hernia	9569	GTF2IRD1	ORPHA:904
HP:0001537	Umbilical hernia	155382	VPS37D	ORPHA:904
HP:0001537	Umbilical hernia	155368	METTL27	ORPHA:904
HP:0001537	Umbilical hernia	114049	BUD23	ORPHA:904
HP:0001537	Umbilical hernia	7458	EIF4H	ORPHA:904
HP:0001537	Umbilical hernia	84163	GTF2IRD2	ORPHA:904
HP:0001537	Umbilical hernia	9275	BCL7B	ORPHA:904
HP:0001537	Umbilical hernia	26608	TBL2	ORPHA:904
HP:0001537	Umbilical hernia	653361	NCF1	ORPHA:904
HP:0001537	Umbilical hernia	135886	TMEM270	ORPHA:904
HP:0001537	Umbilical hernia	51085	MLXIPL	ORPHA:904
HP:0001537	Umbilical hernia	51085	MLXIPL	OMIM:194050
HP:0001537	Umbilical hernia	9031	BAZ1B	ORPHA:904
HP:0001537	Umbilical hernia	2006	ELN	ORPHA:904
HP:0001537	Umbilical hernia	2006	ELN	OMIM:194050
HP:0001537	Umbilical hernia	79753	SNIP1	OMIM:614501
HP:0001537	Umbilical hernia	5593	PRKG2	OMIM:619636
HP:0001537	Umbilical hernia	8364	H4C3	OMIM:619758
HP:0001537	Umbilical hernia	8517	IKBKG	ORPHA:464
HP:0001537	Umbilical hernia	2990	GUSB	ORPHA:584
HP:0001537	Umbilical hernia	2990	GUSB	OMIM:253220
HP:0001537	Umbilical hernia	2200	FBN1	OMIM:608328
HP:0001537	Umbilical hernia	2200	FBN1	ORPHA:2462
HP:0001537	Umbilical hernia	715	C1R	OMIM:130080
HP:0001537	Umbilical hernia	79813	EHMT1	ORPHA:261652
HP:0001537	Umbilical hernia	58508	KMT2C	ORPHA:261652
HP:0001537	Umbilical hernia	50506	DUOX2	ORPHA:226316
HP:0001537	Umbilical hernia	50506	DUOX2	ORPHA:95716
HP:0001537	Umbilical hernia	9993	DGCR2	OMIM:192430
HP:0001537	Umbilical hernia	8220	ESS2	OMIM:192430
HP:0001537	Umbilical hernia	8214	DGCR6	OMIM:192430
HP:0001537	Umbilical hernia	54487	DGCR8	OMIM:192430
HP:0001537	Umbilical hernia	25802	LMOD1	ORPHA:2241
HP:0001537	Umbilical hernia	4629	MYH11	ORPHA:2241
HP:0001537	Umbilical hernia	4638	MYLK	ORPHA:2241
HP:0001537	Umbilical hernia	51341	ZBTB7A	OMIM:619769
HP:0001537	Umbilical hernia	5832	ALDH18A1	OMIM:219150
HP:0001537	Umbilical hernia	2316	FLNA	OMIM:304120
HP:0001537	Umbilical hernia	2316	FLNA	ORPHA:75497
HP:0001537	Umbilical hernia	55343	SLC35C1	ORPHA:99843
HP:0001537	Umbilical hernia	7030	TFE3	OMIM:301066
HP:0001537	Umbilical hernia	2239	GPC4	ORPHA:373
HP:0001537	Umbilical hernia	2239	GPC4	OMIM:312870
HP:0001537	Umbilical hernia	2719	GPC3	ORPHA:373
HP:0001537	Umbilical hernia	2719	GPC3	OMIM:312870
HP:0001537	Umbilical hernia	81031	SLC2A10	OMIM:208050
HP:0001537	Umbilical hernia	284098	PIGW	OMIM:616025
HP:0001537	Umbilical hernia	259232	NALCN	OMIM:616266
HP:0001537	Umbilical hernia	23483	TGDS	OMIM:616145
HP:0001537	Umbilical hernia	285203	EOGT	OMIM:615297
HP:0001537	Umbilical hernia	57479	PRR12	OMIM:619539
HP:0001537	Umbilical hernia	4851	NOTCH1	OMIM:616028
HP:0001537	Umbilical hernia	84168	ANTXR1	OMIM:230740
HP:0001537	Umbilical hernia	84168	ANTXR1	ORPHA:2067
HP:0001537	Umbilical hernia	64919	BCL11B	OMIM:617237
HP:0001537	Umbilical hernia	4088	SMAD3	OMIM:613795
HP:0001537	Umbilical hernia	4088	SMAD3	ORPHA:284984
HP:0001537	Umbilical hernia	3930	LBR	OMIM:169400
HP:0001537	Umbilical hernia	2146	EZH2	OMIM:277590
HP:0001537	Umbilical hernia	7048	TGFBR2	OMIM:610168
HP:0001537	Umbilical hernia	1107	CHD3	OMIM:618205
HP:0001537	Umbilical hernia	9321	TRIP11	ORPHA:93299
HP:0001537	Umbilical hernia	404672	GTF2H5	ORPHA:33364
HP:0001537	Umbilical hernia	833	CARS1	ORPHA:33364
HP:0001537	Umbilical hernia	2068	ERCC2	ORPHA:33364
HP:0001537	Umbilical hernia	7737	RNF113A	ORPHA:33364
HP:0001537	Umbilical hernia	136647	MPLKIP	ORPHA:33364
HP:0001537	Umbilical hernia	6897	TARS1	ORPHA:33364
HP:0001537	Umbilical hernia	2071	ERCC3	ORPHA:33364
HP:0001537	Umbilical hernia	2961	GTF2E2	ORPHA:33364
HP:0001537	Umbilical hernia	3339	HSPG2	OMIM:255800
HP:0001537	Umbilical hernia	3339	HSPG2	ORPHA:800
HP:0001537	Umbilical hernia	147372	CCBE1	OMIM:235510
HP:0001537	Umbilical hernia	6528	SLC5A5	OMIM:274400
HP:0001537	Umbilical hernia	6528	SLC5A5	ORPHA:95716
HP:0001537	Umbilical hernia	117581	TWIST2	ORPHA:920
HP:0001537	Umbilical hernia	6595	SMARCA2	OMIM:601358
HP:0001537	Umbilical hernia	1387	CREBBP	OMIM:618332
HP:0001537	Umbilical hernia	8295	TRRAP	OMIM:618454
HP:0001537	Umbilical hernia	9742	IFT140	OMIM:266920
HP:0001537	Umbilical hernia	55690	PACS1	ORPHA:329224
HP:0001537	Umbilical hernia	51053	GMNN	OMIM:616835
HP:0001537	Umbilical hernia	2245	FGD1	ORPHA:915
HP:0001537	Umbilical hernia	6497	SKI	ORPHA:2462
HP:0001537	Umbilical hernia	6497	SKI	OMIM:182212
HP:0001537	Umbilical hernia	90417	KNSTRN	OMIM:613328
HP:0001537	Umbilical hernia	90417	KNSTRN	ORPHA:221139
HP:0001537	Umbilical hernia	5293	PIK3CD	OMIM:613328
HP:0001537	Umbilical hernia	5293	PIK3CD	ORPHA:221139
HP:0001537	Umbilical hernia	6792	CDKL5	ORPHA:1934
HP:0001537	Umbilical hernia	3736	KCNA1	ORPHA:1934
HP:0001537	Umbilical hernia	9091	PIGQ	ORPHA:1934
HP:0001537	Umbilical hernia	2775	GNAO1	ORPHA:1934
HP:0001537	Umbilical hernia	81603	TRIM8	ORPHA:1934
HP:0001537	Umbilical hernia	2902	GRIN1	ORPHA:1934
HP:0001537	Umbilical hernia	79751	SLC25A22	ORPHA:1934
HP:0001537	Umbilical hernia	150094	SIK1	ORPHA:1934
HP:0001537	Umbilical hernia	8573	CASK	ORPHA:1934
HP:0001537	Umbilical hernia	23312	DMXL2	ORPHA:1934
HP:0001537	Umbilical hernia	2917	GRM7	ORPHA:1934
HP:0001537	Umbilical hernia	170302	ARX	ORPHA:1934
HP:0001537	Umbilical hernia	11284	PNKP	ORPHA:1934
HP:0001537	Umbilical hernia	6326	SCN2A	ORPHA:1934
HP:0001537	Umbilical hernia	51227	PIGP	ORPHA:1934
HP:0001537	Umbilical hernia	6324	SCN1B	ORPHA:1934
HP:0001537	Umbilical hernia	4761	NEUROD2	ORPHA:1934
HP:0001537	Umbilical hernia	6448	SGSH	OMIM:252900
HP:0001537	Umbilical hernia	388015	RTL1	ORPHA:254534
HP:0001537	Umbilical hernia	388015	RTL1	ORPHA:254528
HP:0001537	Umbilical hernia	8788	DLK1	ORPHA:254534
HP:0001537	Umbilical hernia	8788	DLK1	ORPHA:254528
HP:0001537	Umbilical hernia	55384	MEG3	ORPHA:254534
HP:0001537	Umbilical hernia	55384	MEG3	ORPHA:254528
HP:0001537	Umbilical hernia	9759	HDAC4	ORPHA:1001
HP:0001537	Umbilical hernia	546	ATRX	OMIM:301040
HP:0001537	Umbilical hernia	411	ARSB	OMIM:253200
HP:0001537	Umbilical hernia	6299	SALL1	OMIM:107480
HP:0001537	Umbilical hernia	10847	SRCAP	OMIM:136140
HP:0001537	Umbilical hernia	5515	PPP2CA	OMIM:618354
HP:0001537	Umbilical hernia	4854	NOTCH3	OMIM:130720
HP:0001537	Umbilical hernia	4854	NOTCH3	ORPHA:2789
HP:0001537	Umbilical hernia	23291	FBXW11	OMIM:618914
HP:0001537	Umbilical hernia	169792	GLIS3	OMIM:610199
HP:0001537	Umbilical hernia	3097	HIVEP2	OMIM:616977
HP:0001537	Umbilical hernia	55033	FKBP14	OMIM:614557
HP:0001537	Umbilical hernia	3767	KCNJ11	ORPHA:99886
HP:0001537	Umbilical hernia	346171	ZFP57	ORPHA:99886
HP:0001537	Umbilical hernia	57061	HYMAI	ORPHA:99886
HP:0001537	Umbilical hernia	57061	HYMAI	ORPHA:96191
HP:0001537	Umbilical hernia	6833	ABCC8	ORPHA:99886
HP:0001537	Umbilical hernia	5325	PLAGL1	ORPHA:99886
HP:0001537	Umbilical hernia	5325	PLAGL1	ORPHA:96191
HP:0001537	Umbilical hernia	79068	FTO	OMIM:612938
HP:0001537	Umbilical hernia	4784	NFIX	OMIM:602535
HP:0001537	Umbilical hernia	3756	KCNH1	OMIM:135500
HP:0001537	Umbilical hernia	8260	NAA10	OMIM:300855
HP:0001537	Umbilical hernia	85358	SHANK3	ORPHA:48652
HP:0001537	Umbilical hernia	10082	GPC6	OMIM:258315
HP:0001537	Umbilical hernia	405753	DUOXA2	ORPHA:95716
HP:0001537	Umbilical hernia	7038	TG	ORPHA:95716
HP:0001537	Umbilical hernia	7173	TPO	ORPHA:95716
HP:0001537	Umbilical hernia	389434	IYD	ORPHA:95716
HP:0001537	Umbilical hernia	55603	TENT5A	OMIM:617952
HP:0001537	Umbilical hernia	134701	RIPPLY2	ORPHA:2311
HP:0001537	Umbilical hernia	10683	DLL3	ORPHA:2311
HP:0001537	Umbilical hernia	3955	LFNG	ORPHA:2311
HP:0001537	Umbilical hernia	84667	HES7	ORPHA:2311
HP:0001537	Umbilical hernia	145873	MESP2	ORPHA:2311
HP:0001537	Umbilical hernia	2019	EN1	OMIM:619218
HP:0001537	Umbilical hernia	23389	MED13L	ORPHA:369891
HP:0001537	Umbilical hernia	5351	PLOD1	ORPHA:1900
HP:0001537	Umbilical hernia	1312	COMT	ORPHA:567
HP:0001537	Umbilical hernia	221037	JMJD1C	ORPHA:567
HP:0001537	Umbilical hernia	2812	GP1BB	ORPHA:567
HP:0001537	Umbilical hernia	6239	RREB1	ORPHA:567
HP:0001537	Umbilical hernia	7290	HIRA	ORPHA:567
HP:0001537	Umbilical hernia	9632	SEC24C	ORPHA:567
HP:0001537	Umbilical hernia	7353	UFD1	ORPHA:567
HP:0001537	Umbilical hernia	421	ARVCF	ORPHA:567
HP:0001537	Umbilical hernia	1482	NKX2-5	ORPHA:95712
HP:0001537	Umbilical hernia	538	ATP7A	ORPHA:565
HP:0001537	Umbilical hernia	6045	RNF2	OMIM:619460
HP:0001537	Umbilical hernia	1280	COL2A1	OMIM:156550
HP:0001537	Umbilical hernia	2743	GLRB	ORPHA:3197
HP:0001537	Umbilical hernia	2741	GLRA1	ORPHA:3197
HP:0001537	Umbilical hernia	2741	GLRA1	OMIM:149400
HP:0001537	Umbilical hernia	10243	GPHN	ORPHA:3197
HP:0001537	Umbilical hernia	10243	GPHN	OMIM:149400
HP:0001537	Umbilical hernia	84896	ATAD1	ORPHA:3197
HP:0001537	Umbilical hernia	84896	ATAD1	OMIM:618011
HP:0001537	Umbilical hernia	9152	SLC6A5	ORPHA:3197
HP:0001537	Umbilical hernia	9509	ADAMTS2	OMIM:225410
HP:0001537	Umbilical hernia	633	BGN	OMIM:300989
HP:0001537	Umbilical hernia	2475	MTOR	OMIM:616638
HP:0001537	Umbilical hernia	51715	RAB23	ORPHA:65759
HP:0001537	Umbilical hernia	51715	RAB23	OMIM:201000
HP:0001537	Umbilical hernia	26227	PHGDH	ORPHA:79351
HP:0001537	Umbilical hernia	26040	SETBP1	ORPHA:798
HP:0001537	Umbilical hernia	64840	PORCN	OMIM:305600
HP:0001537	Umbilical hernia	64840	PORCN	ORPHA:2092
HP:0001537	Umbilical hernia	84265	POLR3GL	OMIM:619234
HP:0001537	Umbilical hernia	716	C1S	OMIM:617174
HP:0001537	Umbilical hernia	10526	IPO8	OMIM:619472
HP:0001537	Umbilical hernia	26580	BSCL2	OMIM:269700
HP:0001537	Umbilical hernia	94005	PIGS	OMIM:618143
HP:0001537	Umbilical hernia	1861	TOR1A	OMIM:618947
HP:0001537	Umbilical hernia	285590	SH3PXD2B	ORPHA:137834
HP:0001537	Umbilical hernia	23405	DICER1	OMIM:618272
HP:0001537	Umbilical hernia	113189	CHST14	OMIM:601776
HP:0001537	Umbilical hernia	51360	MBTPS2	OMIM:308205
HP:0001537	Umbilical hernia	1457	CSNK2A1	OMIM:617062
HP:0001537	Umbilical hernia	54880	BCOR	OMIM:300166
HP:0001537	Umbilical hernia	2263	FGFR2	ORPHA:1555
HP:0001537	Umbilical hernia	100506658	OCLN	OMIM:251290
HP:0001537	Umbilical hernia	23169	SLC35D1	OMIM:269250
HP:0001537	Umbilical hernia	149461	CLDN19	ORPHA:2196
HP:0001537	Umbilical hernia	5879	RAC1	OMIM:617751
HP:0001537	Umbilical hernia	5879	RAC1	ORPHA:500159
HP:0001537	Umbilical hernia	84231	TRAF7	OMIM:618164
HP:0001537	Umbilical hernia	51780	KDM3B	OMIM:618846
HP:0001537	Umbilical hernia	9487	PIGL	OMIM:280000
HP:0001537	Umbilical hernia	10584	COLEC10	ORPHA:293843
HP:0001537	Umbilical hernia	5648	MASP1	ORPHA:293843
HP:0001537	Umbilical hernia	78989	COLEC11	ORPHA:293843
HP:0001537	Umbilical hernia	63916	ELMO2	OMIM:606893
HP:0001537	Umbilical hernia	4621	MYH3	ORPHA:2990
HP:0001537	Umbilical hernia	10516	FBLN5	OMIM:219100
HP:0001537	Umbilical hernia	5727	PTCH1	ORPHA:77301
HP:0001537	Umbilical hernia	55553	SOX6	OMIM:618971
HP:0001537	Umbilical hernia	203068	TUBB	ORPHA:2505
HP:0001537	Umbilical hernia	10982	MAPRE2	ORPHA:2505
HP:0001538	Protuberant abdomen	2261	FGFR3	OMIM:187600
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:151210
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:184250
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:200610
HP:0001538	Protuberant abdomen	9851	KIAA0753	OMIM:619479
HP:0001538	Protuberant abdomen	1594	CYP27B1	ORPHA:289157
HP:0001538	Protuberant abdomen	1594	CYP27B1	OMIM:264700
HP:0001538	Protuberant abdomen	120227	CYP2R1	ORPHA:289157
HP:0001538	Protuberant abdomen	579	NKX3-2	OMIM:613330
HP:0001538	Protuberant abdomen	79770	TXNDC15	OMIM:619879
HP:0001538	Protuberant abdomen	2542	SLC37A4	OMIM:232220
HP:0001538	Protuberant abdomen	2542	SLC37A4	ORPHA:79259
HP:0001538	Protuberant abdomen	6609	SMPD1	OMIM:257200
HP:0001538	Protuberant abdomen	1836	SLC26A2	ORPHA:56304
HP:0001538	Protuberant abdomen	23405	DICER1	OMIM:618272
HP:0001538	Protuberant abdomen	2200	FBN1	OMIM:608328
HP:0001538	Protuberant abdomen	3636	INPPL1	OMIM:258480
HP:0001538	Protuberant abdomen	51098	IFT52	OMIM:617102
HP:0001538	Protuberant abdomen	50485	SMARCAL1	OMIM:242900
HP:0001538	Protuberant abdomen	23169	SLC35D1	OMIM:269250
HP:0001538	Protuberant abdomen	388015	RTL1	ORPHA:96334
HP:0001538	Protuberant abdomen	8788	DLK1	ORPHA:96334
HP:0001538	Protuberant abdomen	55384	MEG3	ORPHA:96334
HP:0001538	Protuberant abdomen	79158	GNPTAB	OMIM:252500
HP:0001538	Protuberant abdomen	79158	GNPTAB	ORPHA:576
HP:0001538	Protuberant abdomen	10683	DLL3	OMIM:277300
HP:0001538	Protuberant abdomen	145873	MESP2	OMIM:277300
HP:0001538	Protuberant abdomen	3930	LBR	OMIM:215140
HP:0001538	Protuberant abdomen	3930	LBR	OMIM:618019
HP:0001538	Protuberant abdomen	9321	TRIP11	OMIM:200600
HP:0001538	Protuberant abdomen	10020	GNE	OMIM:269921
HP:0001538	Protuberant abdomen	3988	LIPA	OMIM:278000
HP:0001538	Protuberant abdomen	2538	G6PC1	OMIM:232200
HP:0001538	Protuberant abdomen	7994	KAT6A	OMIM:616268
HP:0001538	Protuberant abdomen	1302	COL11A2	OMIM:614524
HP:0001538	Protuberant abdomen	55764	IFT122	OMIM:218330
HP:0001538	Protuberant abdomen	2317	FLNB	OMIM:108720
HP:0001538	Protuberant abdomen	2629	GBA1	OMIM:230900
HP:0001538	Protuberant abdomen	5745	PTH1R	ORPHA:50945
HP:0001538	Protuberant abdomen	1301	COL11A1	OMIM:228520
HP:0001538	Protuberant abdomen	7421	VDR	OMIM:277440
HP:0001538	Protuberant abdomen	2475	MTOR	ORPHA:457485
HP:0001538	Protuberant abdomen	29968	PSAT1	OMIM:616038
HP:0001538	Protuberant abdomen	3425	IDUA	OMIM:607014
HP:0001538	Protuberant abdomen	5696	PSMB8	OMIM:256040
HP:0001538	Protuberant abdomen	54808	DYM	ORPHA:239
HP:0001538	Protuberant abdomen	168667	BMPER	OMIM:608022
HP:0001539	Omphalocele	9361	LONP1	OMIM:600373
HP:0001539	Omphalocele	2294	FOXF1	OMIM:265380
HP:0001539	Omphalocele	388015	RTL1	ORPHA:254534
HP:0001539	Omphalocele	388015	RTL1	ORPHA:254528
HP:0001539	Omphalocele	388015	RTL1	ORPHA:96334
HP:0001539	Omphalocele	8788	DLK1	ORPHA:254534
HP:0001539	Omphalocele	8788	DLK1	ORPHA:254528
HP:0001539	Omphalocele	8788	DLK1	ORPHA:96334
HP:0001539	Omphalocele	55384	MEG3	ORPHA:254534
HP:0001539	Omphalocele	55384	MEG3	ORPHA:254528
HP:0001539	Omphalocele	55384	MEG3	ORPHA:96334
HP:0001539	Omphalocele	341640	FREM2	ORPHA:2052
HP:0001539	Omphalocele	80144	FRAS1	ORPHA:2052
HP:0001539	Omphalocele	23426	GRIP1	ORPHA:2052
HP:0001539	Omphalocele	28981	IFT81	OMIM:617895
HP:0001539	Omphalocele	5648	MASP1	OMIM:257920
HP:0001539	Omphalocele	23556	PIGN	ORPHA:2059
HP:0001539	Omphalocele	55112	DYNC2I1	ORPHA:93271
HP:0001539	Omphalocele	57560	IFT80	ORPHA:93271
HP:0001539	Omphalocele	57539	WDR35	ORPHA:93271
HP:0001539	Omphalocele	79659	DYNC2H1	ORPHA:93271
HP:0001539	Omphalocele	89891	DYNC2I2	ORPHA:93271
HP:0001539	Omphalocele	91754	NEK9	OMIM:617022
HP:0001539	Omphalocele	117581	TWIST2	OMIM:200110
HP:0001539	Omphalocele	117581	TWIST2	ORPHA:920
HP:0001539	Omphalocele	23384	SPECC1L	ORPHA:1519
HP:0001539	Omphalocele	23384	SPECC1L	OMIM:145420
HP:0001539	Omphalocele	51259	TMEM216	OMIM:603194
HP:0001539	Omphalocele	10225	CD96	OMIM:211750
HP:0001539	Omphalocele	10225	CD96	ORPHA:1308
HP:0001539	Omphalocele	7547	ZIC3	OMIM:306955
HP:0001539	Omphalocele	4784	NFIX	OMIM:602535
HP:0001539	Omphalocele	51360	MBTPS2	ORPHA:2273
HP:0001539	Omphalocele	51360	MBTPS2	OMIM:308205
HP:0001539	Omphalocele	64359	NXN	OMIM:618529
HP:0001539	Omphalocele	1147	CHUK	OMIM:613630
HP:0001539	Omphalocele	2260	FGFR1	OMIM:190440
HP:0001539	Omphalocele	2260	FGFR1	ORPHA:3366
HP:0001539	Omphalocele	158326	FREM1	ORPHA:3366
HP:0001539	Omphalocele	158326	FREM1	OMIM:248450
HP:0001539	Omphalocele	8626	TP63	ORPHA:93930
HP:0001539	Omphalocele	3670	ISL1	ORPHA:93930
HP:0001539	Omphalocele	4313	MMP2	ORPHA:371428
HP:0001539	Omphalocele	4323	MMP14	ORPHA:371428
HP:0001539	Omphalocele	1301	COL11A1	OMIM:228520
HP:0001539	Omphalocele	1301	COL11A1	ORPHA:2021
HP:0001539	Omphalocele	79796	ALG9	OMIM:263210
HP:0001539	Omphalocele	79796	ALG9	ORPHA:79328
HP:0001539	Omphalocele	7067	THRA	OMIM:614450
HP:0001539	Omphalocele	55012	PPP2R3C	OMIM:618419
HP:0001539	Omphalocele	55636	CHD7	OMIM:214800
HP:0001539	Omphalocele	4036	LRP2	ORPHA:2143
HP:0001539	Omphalocele	4036	LRP2	OMIM:222448
HP:0001539	Omphalocele	10046	MAMLD1	ORPHA:95706
HP:0001539	Omphalocele	367	AR	ORPHA:95706
HP:0001539	Omphalocele	1302	COL11A2	ORPHA:2021
HP:0001539	Omphalocele	4524	MTHFR	ORPHA:563609
HP:0001539	Omphalocele	57216	VANGL2	ORPHA:563609
HP:0001539	Omphalocele	2316	FLNA	ORPHA:90652
HP:0001539	Omphalocele	2316	FLNA	ORPHA:2484
HP:0001539	Omphalocele	2316	FLNA	OMIM:304120
HP:0001539	Omphalocele	2316	FLNA	OMIM:309350
HP:0001539	Omphalocele	2316	FLNA	OMIM:311300
HP:0001539	Omphalocele	64840	PORCN	OMIM:305600
HP:0001539	Omphalocele	64840	PORCN	ORPHA:2092
HP:0001539	Omphalocele	57217	TTC7A	OMIM:243150
HP:0001539	Omphalocele	57217	TTC7A	ORPHA:436252
HP:0001539	Omphalocele	4659	PPP1R12A	OMIM:618820
HP:0001539	Omphalocele	5727	PTCH1	OMIM:610828
HP:0001539	Omphalocele	2571	GAD1	OMIM:619124
HP:0001539	Omphalocele	51715	RAB23	OMIM:201000
HP:0001539	Omphalocele	1857	DVL3	OMIM:616894
HP:0001539	Omphalocele	9772	TMEM94	OMIM:618316
HP:0001539	Omphalocele	25802	LMOD1	ORPHA:2241
HP:0001539	Omphalocele	4629	MYH11	ORPHA:2241
HP:0001539	Omphalocele	72	ACTG2	ORPHA:2241
HP:0001539	Omphalocele	4638	MYLK	ORPHA:2241
HP:0001539	Omphalocele	139285	AMER1	OMIM:300373
HP:0001539	Omphalocele	3090	HIC1	ORPHA:531
HP:0001539	Omphalocele	5048	PAFAH1B1	ORPHA:531
HP:0001539	Omphalocele	7531	YWHAE	ORPHA:531
HP:0001539	Omphalocele	2239	GPC4	ORPHA:373
HP:0001539	Omphalocele	2719	GPC3	ORPHA:373
HP:0001539	Omphalocele	153241	CEP120	OMIM:616300
HP:0001539	Omphalocele	1028	CDKN1C	OMIM:130650
HP:0001539	Omphalocele	10984	KCNQ1OT1	OMIM:130650
HP:0001539	Omphalocele	3481	IGF2	OMIM:130650
HP:0001539	Omphalocele	3784	KCNQ1	OMIM:130650
HP:0001539	Omphalocele	727857	BHLHA9	ORPHA:3329
HP:0001539	Omphalocele	5297	PI4KA	ORPHA:436252
HP:0001539	Omphalocele	2317	FLNB	ORPHA:1263
HP:0001539	Omphalocele	219844	HYLS1	OMIM:236680
HP:0001539	Omphalocele	3239	HOXD13	ORPHA:887
HP:0001539	Omphalocele	8295	TRRAP	OMIM:618454
HP:0001539	Omphalocele	54903	MKS1	OMIM:249000
HP:0001539	Omphalocele	54101	RIPK4	OMIM:263650
HP:0001539	Omphalocele	4281	MID1	ORPHA:2745
HP:0001539	Omphalocele	51339	DACT1	ORPHA:63260
HP:0001539	Omphalocele	7252	TSHB	OMIM:275100
HP:0011751	Abnormality of the posterior pituitary	6469	SHH	OMIM:142945
HP:0011751	Abnormality of the posterior pituitary	6469	SHH	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	7546	ZIC2	OMIM:609637
HP:0011751	Abnormality of the posterior pituitary	7546	ZIC2	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	7466	WFS1	ORPHA:411590
HP:0011751	Abnormality of the posterior pituitary	28514	DLL1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	2253	FGF8	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	6496	SIX3	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	7050	TGIF1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	4838	NODAL	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	6491	STIL	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	2619	GAS1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	84976	DISP1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	8928	FOXH1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	5727	PTCH1	ORPHA:280195
HP:0011751	Abnormality of the posterior pituitary	551	AVP	OMIM:125700
HP:0011751	Abnormality of the posterior pituitary	54675	CRLS1	OMIM:620167
HP:0011751	Abnormality of the posterior pituitary	8626	TP63	OMIM:604292
HP:0011751	Abnormality of the posterior pituitary	5456	POU3F4	ORPHA:1435
HP:0011751	Abnormality of the posterior pituitary	1499	CTNNB1	ORPHA:54595
HP:0011751	Abnormality of the posterior pituitary	673	BRAF	ORPHA:54595
HP:0011751	Abnormality of the posterior pituitary	8314	BAP1	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	4771	NF2	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	6598	SMARCB1	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	5155	PDGFB	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	84231	TRAF7	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	6608	SMO	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	207	AKT1	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	5290	PIK3CA	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	7015	TERT	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	51684	SUFU	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	6605	SMARCE1	ORPHA:2495
HP:0011751	Abnormality of the posterior pituitary	22827	PUF60	ORPHA:508488
HP:0011751	Abnormality of the posterior pituitary	2077	ERF	OMIM:600775
HP:0011751	Abnormality of the posterior pituitary	5626	PROP1	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	5626	PROP1	ORPHA:226307
HP:0011751	Abnormality of the posterior pituitary	5626	PROP1	ORPHA:90695
HP:0011751	Abnormality of the posterior pituitary	2736	GLI2	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	2736	GLI2	OMIM:615849
HP:0011751	Abnormality of the posterior pituitary	89884	LHX4	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	89884	LHX4	ORPHA:226307
HP:0011751	Abnormality of the posterior pituitary	89884	LHX4	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	3170	FOXA2	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	5449	POU1F1	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	5449	POU1F1	ORPHA:226307
HP:0011751	Abnormality of the posterior pituitary	8820	HESX1	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	8820	HESX1	ORPHA:226307
HP:0011751	Abnormality of the posterior pituitary	8820	HESX1	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	5015	OTX2	ORPHA:95494
HP:0011751	Abnormality of the posterior pituitary	5015	OTX2	OMIM:613986
HP:0011751	Abnormality of the posterior pituitary	5015	OTX2	OMIM:610125
HP:0011751	Abnormality of the posterior pituitary	6926	TBX3	OMIM:181450
HP:0011751	Abnormality of the posterior pituitary	9851	KIAA0753	OMIM:619476
HP:0011751	Abnormality of the posterior pituitary	6658	SOX3	ORPHA:67045
HP:0011751	Abnormality of the posterior pituitary	6658	SOX3	ORPHA:90695
HP:0011751	Abnormality of the posterior pituitary	8022	LHX3	ORPHA:226307
HP:0011751	Abnormality of the posterior pituitary	9289	ADGRG1	ORPHA:98889
HP:0011751	Abnormality of the posterior pituitary	5297	PI4KA	ORPHA:98889
HP:0011751	Abnormality of the posterior pituitary	27286	SRPX2	ORPHA:98889
HP:0011751	Abnormality of the posterior pituitary	128674	PROKR2	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	55717	WDR11	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	6091	ROBO1	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	50937	CDON	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	23432	GPR161	ORPHA:95496
HP:0011751	Abnormality of the posterior pituitary	4524	MTHFR	ORPHA:563612
HP:0011751	Abnormality of the posterior pituitary	57216	VANGL2	ORPHA:563612
HP:0011751	Abnormality of the posterior pituitary	1859	DYRK1A	ORPHA:464311
HP:0011751	Abnormality of the posterior pituitary	1859	DYRK1A	ORPHA:268261
HP:0011752	Neoplasm of the posterior pituitary	8314	BAP1	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	4771	NF2	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	6598	SMARCB1	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	5155	PDGFB	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	84231	TRAF7	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	6608	SMO	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	207	AKT1	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	5290	PIK3CA	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	7015	TERT	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	51684	SUFU	ORPHA:2495
HP:0011752	Neoplasm of the posterior pituitary	6605	SMARCE1	ORPHA:2495
HP:0011753	Posterior pituitary dysgenesis	22827	PUF60	ORPHA:508488
HP:0011753	Posterior pituitary dysgenesis	2077	ERF	OMIM:600775
HP:0011753	Posterior pituitary dysgenesis	5626	PROP1	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	5626	PROP1	ORPHA:226307
HP:0011753	Posterior pituitary dysgenesis	5626	PROP1	ORPHA:90695
HP:0011753	Posterior pituitary dysgenesis	2736	GLI2	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	2736	GLI2	OMIM:615849
HP:0011753	Posterior pituitary dysgenesis	89884	LHX4	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	89884	LHX4	ORPHA:226307
HP:0011753	Posterior pituitary dysgenesis	89884	LHX4	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	3170	FOXA2	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	5449	POU1F1	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	5449	POU1F1	ORPHA:226307
HP:0011753	Posterior pituitary dysgenesis	8820	HESX1	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	8820	HESX1	ORPHA:226307
HP:0011753	Posterior pituitary dysgenesis	8820	HESX1	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	5015	OTX2	ORPHA:95494
HP:0011753	Posterior pituitary dysgenesis	5015	OTX2	OMIM:613986
HP:0011753	Posterior pituitary dysgenesis	5015	OTX2	OMIM:610125
HP:0011753	Posterior pituitary dysgenesis	6926	TBX3	OMIM:181450
HP:0011753	Posterior pituitary dysgenesis	9851	KIAA0753	OMIM:619476
HP:0011753	Posterior pituitary dysgenesis	6658	SOX3	ORPHA:67045
HP:0011753	Posterior pituitary dysgenesis	6658	SOX3	ORPHA:90695
HP:0011753	Posterior pituitary dysgenesis	8022	LHX3	ORPHA:226307
HP:0011753	Posterior pituitary dysgenesis	9289	ADGRG1	ORPHA:98889
HP:0011753	Posterior pituitary dysgenesis	5297	PI4KA	ORPHA:98889
HP:0011753	Posterior pituitary dysgenesis	27286	SRPX2	ORPHA:98889
HP:0011753	Posterior pituitary dysgenesis	128674	PROKR2	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	55717	WDR11	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	6091	ROBO1	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	50937	CDON	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	23432	GPR161	ORPHA:95496
HP:0011753	Posterior pituitary dysgenesis	4524	MTHFR	ORPHA:563612
HP:0011753	Posterior pituitary dysgenesis	57216	VANGL2	ORPHA:563612
HP:0011753	Posterior pituitary dysgenesis	1859	DYRK1A	ORPHA:464311
HP:0011753	Posterior pituitary dysgenesis	1859	DYRK1A	ORPHA:268261
HP:0011755	Ectopic posterior pituitary	22827	PUF60	ORPHA:508488
HP:0011755	Ectopic posterior pituitary	2077	ERF	OMIM:600775
HP:0011755	Ectopic posterior pituitary	5626	PROP1	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	5626	PROP1	ORPHA:226307
HP:0011755	Ectopic posterior pituitary	5626	PROP1	ORPHA:90695
HP:0011755	Ectopic posterior pituitary	2736	GLI2	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	2736	GLI2	OMIM:615849
HP:0011755	Ectopic posterior pituitary	89884	LHX4	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	89884	LHX4	ORPHA:226307
HP:0011755	Ectopic posterior pituitary	89884	LHX4	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	3170	FOXA2	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	5449	POU1F1	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	5449	POU1F1	ORPHA:226307
HP:0011755	Ectopic posterior pituitary	8820	HESX1	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	8820	HESX1	ORPHA:226307
HP:0011755	Ectopic posterior pituitary	8820	HESX1	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	5015	OTX2	ORPHA:95494
HP:0011755	Ectopic posterior pituitary	5015	OTX2	OMIM:613986
HP:0011755	Ectopic posterior pituitary	5015	OTX2	OMIM:610125
HP:0011755	Ectopic posterior pituitary	6926	TBX3	OMIM:181450
HP:0011755	Ectopic posterior pituitary	9851	KIAA0753	OMIM:619476
HP:0011755	Ectopic posterior pituitary	6658	SOX3	ORPHA:67045
HP:0011755	Ectopic posterior pituitary	6658	SOX3	ORPHA:90695
HP:0011755	Ectopic posterior pituitary	8022	LHX3	ORPHA:226307
HP:0011755	Ectopic posterior pituitary	9289	ADGRG1	ORPHA:98889
HP:0011755	Ectopic posterior pituitary	5297	PI4KA	ORPHA:98889
HP:0011755	Ectopic posterior pituitary	27286	SRPX2	ORPHA:98889
HP:0011755	Ectopic posterior pituitary	128674	PROKR2	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	55717	WDR11	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	6091	ROBO1	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	50937	CDON	ORPHA:95496
HP:0011755	Ectopic posterior pituitary	23432	GPR161	ORPHA:95496
HP:0011756	Posterior pituitary agenesis	4524	MTHFR	ORPHA:563612
HP:0011756	Posterior pituitary agenesis	57216	VANGL2	ORPHA:563612
HP:0011757	Posterior pituitary hypoplasia	5015	OTX2	OMIM:613986
HP:0011757	Posterior pituitary hypoplasia	1859	DYRK1A	ORPHA:464311
HP:0011757	Posterior pituitary hypoplasia	1859	DYRK1A	ORPHA:268261
HP:0011759	Pituitary gonadotropic cell adenoma	4221	MEN1	ORPHA:652
HP:0011759	Pituitary gonadotropic cell adenoma	1027	CDKN1B	ORPHA:652
HP:0011759	Pituitary gonadotropic cell adenoma	1026	CDKN1A	ORPHA:652
HP:0011759	Pituitary gonadotropic cell adenoma	1030	CDKN2B	ORPHA:652
HP:0011759	Pituitary gonadotropic cell adenoma	1031	CDKN2C	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	5573	PRKAR1A	OMIM:160980
HP:0011750	Neoplasm of the anterior pituitary	5573	PRKAR1A	ORPHA:189439
HP:0011750	Neoplasm of the anterior pituitary	4221	MEN1	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	4221	MEN1	OMIM:131100
HP:0011750	Neoplasm of the anterior pituitary	1027	CDKN1B	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	1027	CDKN1B	OMIM:610755
HP:0011750	Neoplasm of the anterior pituitary	1027	CDKN1B	ORPHA:276152
HP:0011750	Neoplasm of the anterior pituitary	1026	CDKN1A	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	1030	CDKN2B	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	1031	CDKN2C	ORPHA:652
HP:0011750	Neoplasm of the anterior pituitary	2778	GNAS	OMIM:174800
HP:0011750	Neoplasm of the anterior pituitary	2778	GNAS	ORPHA:189427
HP:0011750	Neoplasm of the anterior pituitary	5566	PRKACA	ORPHA:189439
HP:0011750	Neoplasm of the anterior pituitary	8622	PDE8B	ORPHA:189439
HP:0011750	Neoplasm of the anterior pituitary	50940	PDE11A	ORPHA:189439
HP:0011750	Neoplasm of the anterior pituitary	3458	IFNG	ORPHA:805
HP:0011750	Neoplasm of the anterior pituitary	7248	TSC1	ORPHA:805
HP:0011750	Neoplasm of the anterior pituitary	7249	TSC2	ORPHA:805
HP:0011750	Neoplasm of the anterior pituitary	324	APC	ORPHA:99818
HP:0011750	Neoplasm of the anterior pituitary	9049	AIP	OMIM:102200
HP:0011750	Neoplasm of the anterior pituitary	9049	AIP	OMIM:219090
HP:0011750	Neoplasm of the anterior pituitary	4072	EPCAM	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	4292	MLH1	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	5395	PMS2	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	27030	MLH3	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	22909	FAN1	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	7048	TGFBR2	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	3845	KRAS	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	5290	PIK3CA	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	2956	MSH6	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	5378	PMS1	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	4436	MSH2	ORPHA:144
HP:0011750	Neoplasm of the anterior pituitary	83550	GPR101	OMIM:300943
HP:0011750	Neoplasm of the anterior pituitary	83550	GPR101	OMIM:300942
HP:0011750	Neoplasm of the anterior pituitary	64072	CDH23	OMIM:617540
HP:0011750	Neoplasm of the anterior pituitary	64218	SEMA4A	ORPHA:440437
HP:0011750	Neoplasm of the anterior pituitary	657	BMPR1A	ORPHA:440437
HP:0011750	Neoplasm of the anterior pituitary	6224	RPS20	ORPHA:440437
HP:0011750	Neoplasm of the anterior pituitary	79798	ARMC5	ORPHA:189427
HP:0011750	Neoplasm of the anterior pituitary	9101	USP8	OMIM:219090
HP:0011750	Neoplasm of the anterior pituitary	3418	IDH2	ORPHA:163634
HP:0011750	Neoplasm of the anterior pituitary	3417	IDH1	ORPHA:163634
HP:0011750	Neoplasm of the anterior pituitary	7528	YY1	ORPHA:97279
HP:0011750	Neoplasm of the anterior pituitary	84196	USP48	ORPHA:96253
HP:0011750	Neoplasm of the anterior pituitary	7157	TP53	ORPHA:96253
HP:0011750	Neoplasm of the anterior pituitary	2908	NR3C1	ORPHA:96253
HP:0011750	Neoplasm of the anterior pituitary	673	BRAF	ORPHA:96253
HP:0011750	Neoplasm of the anterior pituitary	546	ATRX	ORPHA:96253
HP:0011750	Neoplasm of the anterior pituitary	8314	BAP1	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	4771	NF2	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	6598	SMARCB1	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	5155	PDGFB	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	84231	TRAF7	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	6608	SMO	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	207	AKT1	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	7015	TERT	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	51684	SUFU	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	6605	SMARCE1	ORPHA:2495
HP:0011750	Neoplasm of the anterior pituitary	1499	CTNNB1	ORPHA:54595
HP:0011750	Neoplasm of the anterior pituitary	51726	DNAJB11	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	23193	GANAB	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	5310	PKD1	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	5311	PKD2	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	29880	ALG5	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	9742	IFT140	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	79796	ALG9	ORPHA:730
HP:0011750	Neoplasm of the anterior pituitary	80114	BICC1	ORPHA:730
HP:0008703	Gonadal calcification	10568	SLC34A2	ORPHA:60025
HP:0001540	Diastasis recti	79158	GNPTAB	ORPHA:576
HP:0001540	Diastasis recti	79158	GNPTAB	OMIM:252500
HP:0001540	Diastasis recti	64840	PORCN	OMIM:305600
HP:0001540	Diastasis recti	64840	PORCN	ORPHA:2092
HP:0001540	Diastasis recti	2294	FOXF1	OMIM:265380
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:254534
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:254528
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:96334
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:254534
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:254528
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:96334
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:254534
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:254528
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:96334
HP:0001540	Diastasis recti	10584	COLEC10	OMIM:248340
HP:0001540	Diastasis recti	10584	COLEC10	ORPHA:293843
HP:0001540	Diastasis recti	1028	CDKN1C	OMIM:130650
HP:0001540	Diastasis recti	10984	KCNQ1OT1	OMIM:130650
HP:0001540	Diastasis recti	3481	IGF2	OMIM:130650
HP:0001540	Diastasis recti	3481	IGF2	ORPHA:231140
HP:0001540	Diastasis recti	3784	KCNQ1	OMIM:130650
HP:0001540	Diastasis recti	145173	B3GLCT	OMIM:261540
HP:0001540	Diastasis recti	5648	MASP1	OMIM:257920
HP:0001540	Diastasis recti	5648	MASP1	ORPHA:293843
HP:0001540	Diastasis recti	2146	EZH2	OMIM:277590
HP:0001540	Diastasis recti	78989	COLEC11	ORPHA:293843
HP:0001540	Diastasis recti	78989	COLEC11	OMIM:265050
HP:0001540	Diastasis recti	9091	PIGQ	OMIM:618548
HP:0001540	Diastasis recti	63916	ELMO2	OMIM:606893
HP:0001540	Diastasis recti	283120	H19	ORPHA:231140
HP:0001540	Diastasis recti	113189	CHST14	OMIM:601776
HP:0001540	Diastasis recti	55553	SOX6	OMIM:618971
HP:0001540	Diastasis recti	283489	CHAMP1	OMIM:616579
HP:0001540	Diastasis recti	2475	MTOR	ORPHA:457485
HP:0001540	Diastasis recti	2475	MTOR	OMIM:616638
HP:0001540	Diastasis recti	55012	PPP2R3C	OMIM:618419
HP:0001540	Diastasis recti	93627	TBCK	ORPHA:488632
HP:0001540	Diastasis recti	2719	GPC3	OMIM:312870
HP:0001540	Diastasis recti	2239	GPC4	OMIM:312870
HP:0001540	Diastasis recti	23729	SHPK	ORPHA:440713
HP:0001541	Ascites	10159	ATP6AP2	OMIM:301045
HP:0001541	Ascites	83483	PLVAP	OMIM:618183
HP:0001541	Ascites	171023	ASXL1	ORPHA:98850
HP:0001541	Ascites	54790	TET2	ORPHA:98850
HP:0001541	Ascites	867	CBL	ORPHA:98850
HP:0001541	Ascites	861	RUNX1	ORPHA:98850
HP:0001541	Ascites	6427	SRSF2	ORPHA:98850
HP:0001541	Ascites	51422	PRKAG2	OMIM:261740
HP:0001541	Ascites	10112	KIF20A	OMIM:619433
HP:0001541	Ascites	9780	PIEZO1	OMIM:616843
HP:0001541	Ascites	2632	GBE1	OMIM:232500
HP:0001541	Ascites	8425	LTBP4	OMIM:613177
HP:0001541	Ascites	25821	MTO1	OMIM:614702
HP:0001541	Ascites	3932	LCK	OMIM:615758
HP:0001541	Ascites	3875	KRT18	OMIM:215600
HP:0001541	Ascites	6775	STAT4	ORPHA:93552
HP:0001541	Ascites	6696	SPP1	ORPHA:93552
HP:0001541	Ascites	3654	IRAK1	ORPHA:93552
HP:0001541	Ascites	79796	ALG9	OMIM:608776
HP:0001541	Ascites	1776	DNASE1L3	ORPHA:36412
HP:0001541	Ascites	4758	NEU1	OMIM:256550
HP:0001541	Ascites	4758	NEU1	ORPHA:93400
HP:0001541	Ascites	2629	GBA1	OMIM:608013
HP:0001541	Ascites	2629	GBA1	ORPHA:77259
HP:0001541	Ascites	5314	PKHD1	ORPHA:53035
HP:0001541	Ascites	5314	PKHD1	ORPHA:731
HP:0001541	Ascites	56945	MRPS22	OMIM:611719
HP:0001541	Ascites	197131	UBR1	OMIM:243800
HP:0001541	Ascites	23395	LARS2	OMIM:617021
HP:0001541	Ascites	939	CD27	OMIM:615122
HP:0001541	Ascites	2130	EWSR1	ORPHA:83469
HP:0001541	Ascites	7490	WT1	ORPHA:83469
HP:0001541	Ascites	2050	EPHB4	OMIM:617300
HP:0001541	Ascites	23426	GRIP1	OMIM:617667
HP:0001541	Ascites	54345	SOX18	ORPHA:69735
HP:0001541	Ascites	10216	PRG4	ORPHA:2848
HP:0001541	Ascites	7248	TSC1	ORPHA:538
HP:0001541	Ascites	7249	TSC2	ORPHA:538
HP:0001541	Ascites	3930	LBR	ORPHA:779
HP:0001541	Ascites	2592	GALT	ORPHA:79239
HP:0001541	Ascites	427	ASAH1	ORPHA:333
HP:0001541	Ascites	51473	DCDC2	OMIM:617394
HP:0001541	Ascites	51473	DCDC2	ORPHA:84081
HP:0001541	Ascites	2859	GPR35	ORPHA:171
HP:0001541	Ascites	10507	SEMA4D	ORPHA:171
HP:0001541	Ascites	4485	MST1	ORPHA:171
HP:0001541	Ascites	6925	TCF4	ORPHA:171
HP:0001541	Ascites	50619	DEF6	OMIM:619573
HP:0001541	Ascites	7019	TFAM	OMIM:617156
HP:0001541	Ascites	11274	USP18	OMIM:617397
HP:0001541	Ascites	4358	MPV17	OMIM:256810
HP:0001541	Ascites	55109	AGGF1	ORPHA:90308
HP:0001541	Ascites	2492	FSHR	OMIM:608115
HP:0001541	Ascites	2492	FSHR	ORPHA:64739
HP:0001541	Ascites	3431	SP110	ORPHA:79124
HP:0001541	Ascites	1716	DGUOK	OMIM:251880
HP:0001541	Ascites	9184	BUB3	ORPHA:1052
HP:0001541	Ascites	699	BUB1	ORPHA:1052
HP:0001541	Ascites	9702	CEP57	ORPHA:1052
HP:0001541	Ascites	9319	TRIP13	ORPHA:1052
HP:0001541	Ascites	701	BUB1B	ORPHA:1052
HP:0001541	Ascites	55340	GIMAP5	OMIM:619463
HP:0001541	Ascites	4591	TRIM37	OMIM:253250
HP:0001541	Ascites	9971	NR1H4	OMIM:617049
HP:0001541	Ascites	9971	NR1H4	ORPHA:69665
HP:0001541	Ascites	79053	ALG8	OMIM:608104
HP:0001541	Ascites	79053	ALG8	ORPHA:79325
HP:0001541	Ascites	63901	FAM111A	OMIM:602361
HP:0001541	Ascites	2313	FLI1	ORPHA:370348
HP:0001541	Ascites	3077	HFE	OMIM:235200
HP:0001541	Ascites	650	BMP2	OMIM:235200
HP:0001541	Ascites	129563	DIS3L2	OMIM:267000
HP:0001541	Ascites	4607	MYBPC3	OMIM:115197
HP:0001541	Ascites	5167	ENPP1	ORPHA:51608
HP:0001541	Ascites	368	ABCC6	ORPHA:51608
HP:0001541	Ascites	54914	FOCAD	OMIM:619991
HP:0001541	Ascites	222546	RFX6	OMIM:615710
HP:0001541	Ascites	9508	ADAMTS3	ORPHA:2136
HP:0001541	Ascites	147372	CCBE1	ORPHA:2136
HP:0001541	Ascites	79633	FAT4	ORPHA:2136
HP:0001541	Ascites	10056	FARSB	OMIM:613658
HP:0001541	Ascites	5428	POLG	OMIM:203700
HP:0001541	Ascites	5589	PRKCSH	OMIM:174050
HP:0001541	Ascites	6609	SMPD1	OMIM:257200
HP:0001541	Ascites	4210	MEFV	ORPHA:342
HP:0001541	Ascites	2990	GUSB	ORPHA:584
HP:0001541	Ascites	81	ACTN4	OMIM:603278
HP:0001541	Ascites	5244	ABCB4	OMIM:602347
HP:0001541	Ascites	5244	ABCB4	ORPHA:69665
HP:0001541	Ascites	3594	IL12RB1	ORPHA:186
HP:0001541	Ascites	23534	TNPO3	ORPHA:186
HP:0001541	Ascites	3592	IL12A	ORPHA:186
HP:0001541	Ascites	6689	SPIB	ORPHA:186
HP:0001541	Ascites	5450	POU2AF1	ORPHA:186
HP:0001541	Ascites	9966	TNFSF15	ORPHA:186
HP:0001541	Ascites	79258	MMEL1	ORPHA:186
HP:0001541	Ascites	3663	IRF5	ORPHA:186
HP:0001541	Ascites	100147744	RNU7-1	OMIM:619487
HP:0001541	Ascites	5205	ATP8B1	ORPHA:69665
HP:0001541	Ascites	8647	ABCB11	ORPHA:69665
HP:0001541	Ascites	202018	TAPT1	OMIM:616897
HP:0001541	Ascites	91147	TMEM67	ORPHA:84081
HP:0001541	Ascites	5573	PRKAR1A	ORPHA:615
HP:0001541	Ascites	540	ATP7B	OMIM:277900
HP:0001541	Ascites	3516	RBPJ	ORPHA:974
HP:0001541	Ascites	4851	NOTCH1	ORPHA:974
HP:0001541	Ascites	57514	ARHGAP31	ORPHA:974
HP:0001541	Ascites	57572	DOCK6	ORPHA:974
HP:0001541	Ascites	285203	EOGT	ORPHA:974
HP:0001541	Ascites	54567	DLL4	ORPHA:974
HP:0001541	Ascites	199221	DZIP1L	ORPHA:731
HP:0001541	Ascites	2767	GNA11	ORPHA:1556
HP:0001541	Ascites	151188	ARL6IP6	ORPHA:1556
HP:0001541	Ascites	2271	FH	OMIM:606812
HP:0001541	Ascites	3988	LIPA	ORPHA:75233
HP:0001541	Ascites	811	CALR	ORPHA:131
HP:0001541	Ascites	3717	JAK2	ORPHA:131
HP:0001541	Ascites	2153	F5	ORPHA:131
HP:0001541	Ascites	79989	IFT56	OMIM:619534
HP:0001541	Ascites	26503	SLC17A5	OMIM:269920
HP:0001541	Ascites	79651	RHBDF2	ORPHA:2198
HP:0001541	Ascites	2184	FAH	OMIM:276700
HP:0001541	Ascites	2072	ERCC4	OMIM:610965
HP:0001541	Ascites	55901	THSD1	OMIM:620244
HP:0001541	Ascites	9451	EIF2AK3	ORPHA:1667
HP:0001541	Ascites	28962	OSTM1	OMIM:259720
HP:0001541	Ascites	57539	WDR35	OMIM:614091
HP:0001541	Ascites	1536	CYBB	OMIM:306400
HP:0001541	Ascites	1604	CD55	OMIM:226300
HP:0001541	Ascites	5277	PIGA	OMIM:301072
HP:0001541	Ascites	950	SCARB2	ORPHA:77259
HP:0001541	Ascites	2783	GNB2	OMIM:619503
HP:0001541	Ascites	10577	NPC2	OMIM:607625
HP:0001541	Ascites	3295	HSD17B4	OMIM:261515
HP:0001541	Ascites	29969	MDFIC	OMIM:620014
HP:0001541	Ascites	4864	NPC1	OMIM:257220
HP:0001541	Ascites	5745	PTH1R	OMIM:215045
HP:0001541	Ascites	6007	RHD	OMIM:619462
HP:0001541	Ascites	1984	EIF5A	OMIM:619376
HP:0001543	Gastroschisis	10262	SF3B4	OMIM:154400
HP:0001543	Gastroschisis	1717	DHCR7	ORPHA:818
HP:0001543	Gastroschisis	7473	WNT3	OMIM:273395
HP:0001544	Prominent umbilicus	7994	KAT6A	OMIM:616268
HP:0001544	Prominent umbilicus	4000	LMNA	ORPHA:740
HP:0001544	Prominent umbilicus	10269	ZMPSTE24	ORPHA:740
HP:0001544	Prominent umbilicus	2245	FGD1	OMIM:305400
HP:0001544	Prominent umbilicus	284119	CAVIN1	OMIM:613327
HP:0001544	Prominent umbilicus	26580	BSCL2	OMIM:269700
HP:0001544	Prominent umbilicus	10555	AGPAT2	OMIM:608594
HP:0001545	Anteriorly placed anus	64840	PORCN	OMIM:305600
HP:0001545	Anteriorly placed anus	10128	LRPPRC	OMIM:220111
HP:0001545	Anteriorly placed anus	9791	PTDSS1	OMIM:151050
HP:0001545	Anteriorly placed anus	2072	ERCC4	OMIM:615272
HP:0001545	Anteriorly placed anus	5447	POR	OMIM:201750
HP:0001545	Anteriorly placed anus	5447	POR	ORPHA:95699
HP:0001545	Anteriorly placed anus	6628	SNRPB	OMIM:117650
HP:0001545	Anteriorly placed anus	23512	SUZ12	OMIM:618786
HP:0001545	Anteriorly placed anus	1349	COX7B	OMIM:309801
HP:0001545	Anteriorly placed anus	3052	HCCS	OMIM:309801
HP:0001545	Anteriorly placed anus	54539	NDUFB11	OMIM:309801
HP:0001545	Anteriorly placed anus	145173	B3GLCT	OMIM:261540
HP:0001545	Anteriorly placed anus	222546	RFX6	OMIM:615710
HP:0001545	Anteriorly placed anus	1024	CDK8	OMIM:618748
HP:0001545	Anteriorly placed anus	29957	SLC25A24	OMIM:612289
HP:0001545	Anteriorly placed anus	22800	RRAS2	OMIM:618624
HP:0001545	Anteriorly placed anus	158326	FREM1	ORPHA:217266
HP:0001545	Anteriorly placed anus	158326	FREM1	OMIM:248450
HP:0001545	Anteriorly placed anus	158326	FREM1	ORPHA:2717
HP:0001545	Anteriorly placed anus	158326	FREM1	OMIM:608980
HP:0001545	Anteriorly placed anus	8626	TP63	OMIM:604292
HP:0001545	Anteriorly placed anus	9401	RECQL4	OMIM:268400
HP:0001545	Anteriorly placed anus	9401	RECQL4	ORPHA:1225
HP:0001545	Anteriorly placed anus	9401	RECQL4	OMIM:218600
HP:0001545	Anteriorly placed anus	197131	UBR1	OMIM:243800
HP:0001545	Anteriorly placed anus	197131	UBR1	ORPHA:2315
HP:0001545	Anteriorly placed anus	117581	TWIST2	OMIM:200110
HP:0001545	Anteriorly placed anus	8318	CDC45	OMIM:617063
HP:0001545	Anteriorly placed anus	1857	DVL3	OMIM:616894
HP:0001545	Anteriorly placed anus	8942	KYNU	OMIM:617661
HP:0001545	Anteriorly placed anus	28514	DLL1	ORPHA:280195
HP:0001545	Anteriorly placed anus	2253	FGF8	ORPHA:280195
HP:0001545	Anteriorly placed anus	6496	SIX3	ORPHA:280195
HP:0001545	Anteriorly placed anus	7050	TGIF1	ORPHA:280195
HP:0001545	Anteriorly placed anus	4838	NODAL	ORPHA:280195
HP:0001545	Anteriorly placed anus	6469	SHH	ORPHA:280195
HP:0001545	Anteriorly placed anus	7546	ZIC2	ORPHA:280195
HP:0001545	Anteriorly placed anus	6491	STIL	ORPHA:280195
HP:0001545	Anteriorly placed anus	2619	GAS1	ORPHA:280195
HP:0001545	Anteriorly placed anus	84976	DISP1	ORPHA:280195
HP:0001545	Anteriorly placed anus	2736	GLI2	ORPHA:280195
HP:0001545	Anteriorly placed anus	8928	FOXH1	ORPHA:280195
HP:0001545	Anteriorly placed anus	5727	PTCH1	ORPHA:280195
HP:0001545	Anteriorly placed anus	50937	CDON	ORPHA:280195
HP:0001545	Anteriorly placed anus	2263	FGFR2	ORPHA:1555
HP:0001545	Anteriorly placed anus	2263	FGFR2	OMIM:123790
HP:0001545	Anteriorly placed anus	79633	FAT4	ORPHA:314679
HP:0001545	Anteriorly placed anus	79633	FAT4	OMIM:615546
HP:0001545	Anteriorly placed anus	8642	DCHS1	ORPHA:314679
HP:0001545	Anteriorly placed anus	8642	DCHS1	OMIM:601390
HP:0001545	Anteriorly placed anus	6299	SALL1	ORPHA:857
HP:0001545	Anteriorly placed anus	51339	DACT1	ORPHA:857
HP:0001545	Anteriorly placed anus	9968	MED12	OMIM:305450
HP:0001545	Anteriorly placed anus	55650	PIGV	OMIM:239300
HP:0001545	Anteriorly placed anus	55650	PIGV	ORPHA:247262
HP:0001545	Anteriorly placed anus	4784	NFIX	OMIM:602535
HP:0001545	Anteriorly placed anus	84992	PIGY	ORPHA:247262
HP:0001545	Anteriorly placed anus	84720	PIGO	ORPHA:247262
HP:0001545	Anteriorly placed anus	93210	PGAP3	ORPHA:247262
HP:0001545	Anteriorly placed anus	284098	PIGW	ORPHA:247262
HP:0001545	Anteriorly placed anus	27315	PGAP2	ORPHA:247262
HP:0001545	Anteriorly placed anus	9487	PIGL	ORPHA:247262
HP:0001545	Anteriorly placed anus	23522	KAT6B	OMIM:606170
HP:0001545	Anteriorly placed anus	1108	CHD4	OMIM:617159
HP:0001545	Anteriorly placed anus	157570	ESCO2	ORPHA:2319
HP:0001545	Anteriorly placed anus	157570	ESCO2	OMIM:216100
HP:0001545	Anteriorly placed anus	1009	CDH11	OMIM:211380
HP:0001545	Anteriorly placed anus	1009	CDH11	ORPHA:1299
HP:0001545	Anteriorly placed anus	37	ACADVL	ORPHA:26793
HP:0001545	Anteriorly placed anus	1656	DDX6	OMIM:618653
HP:0001545	Anteriorly placed anus	1822	ATN1	OMIM:618494
HP:0001545	Anteriorly placed anus	1642	DDB1	OMIM:619426
HP:0001545	Anteriorly placed anus	26005	C2CD3	OMIM:615948
HP:0001545	Anteriorly placed anus	26040	SETBP1	ORPHA:798
HP:0001545	Anteriorly placed anus	2737	GLI3	OMIM:146510
HP:0001547	Abnormal rib cage morphology	6910	TBX5	ORPHA:392
HP:0001547	Abnormal rib cage morphology	9871	SEC24D	ORPHA:2050
HP:0001547	Abnormal rib cage morphology	5034	P4HB	ORPHA:2050
HP:0001547	Abnormal rib cage morphology	2733	GLE1	ORPHA:1486
HP:0001547	Abnormal rib cage morphology	1131	CHRM3	ORPHA:2970
HP:0001547	Abnormal rib cage morphology	7473	WNT3	ORPHA:3301
HP:0001547	Abnormal rib cage morphology	340419	RSPO2	ORPHA:3301
HP:0001547	Abnormal rib cage morphology	10312	TCIRG1	ORPHA:667
HP:0001547	Abnormal rib cage morphology	1186	CLCN7	ORPHA:667
HP:0001547	Abnormal rib cage morphology	29887	SNX10	ORPHA:667
HP:0001547	Abnormal rib cage morphology	8600	TNFSF11	ORPHA:667
HP:0001547	Abnormal rib cage morphology	5447	POR	ORPHA:95699
HP:0001547	Abnormal rib cage morphology	1717	DHCR7	ORPHA:818
HP:0001547	Abnormal rib cage morphology	55636	CHD7	ORPHA:138
HP:0001547	Abnormal rib cage morphology	55636	CHD7	OMIM:214800
HP:0001547	Abnormal rib cage morphology	9723	SEMA3E	ORPHA:138
HP:0001547	Abnormal rib cage morphology	4952	OCRL	ORPHA:534
HP:0001547	Abnormal rib cage morphology	4038	LRP4	ORPHA:3258
HP:0001547	Abnormal rib cage morphology	324	APC	ORPHA:3258
HP:0001547	Abnormal rib cage morphology	50964	SOST	ORPHA:1513
HP:0001547	Abnormal rib cage morphology	4041	LRP5	ORPHA:2790
HP:0001547	Abnormal rib cage morphology	6023	RMRP	ORPHA:175
HP:0001547	Abnormal rib cage morphology	134701	RIPPLY2	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	10683	DLL3	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	3955	LFNG	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	84667	HES7	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	145873	MESP2	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	157570	ESCO2	ORPHA:2319
HP:0001547	Abnormal rib cage morphology	81620	CDT1	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	5000	ORC4	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	23594	ORC6	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	8318	CDC45	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	990	CDC6	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	4998	ORC1	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	51053	GMNN	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	1301	COL11A1	ORPHA:2021
HP:0001547	Abnormal rib cage morphology	1302	COL11A2	ORPHA:2021
HP:0001547	Abnormal rib cage morphology	2316	FLNA	ORPHA:90652
HP:0001547	Abnormal rib cage morphology	2316	FLNA	ORPHA:2484
HP:0001547	Abnormal rib cage morphology	55112	DYNC2I1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	26160	IFT172	ORPHA:474
HP:0001547	Abnormal rib cage morphology	153241	CEP120	ORPHA:474
HP:0001547	Abnormal rib cage morphology	57560	IFT80	ORPHA:474
HP:0001547	Abnormal rib cage morphology	51626	DYNC2LI1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	79659	DYNC2H1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	9742	IFT140	ORPHA:474
HP:0001547	Abnormal rib cage morphology	57728	WDR19	ORPHA:474
HP:0001547	Abnormal rib cage morphology	89891	DYNC2I2	ORPHA:474
HP:0001547	Abnormal rib cage morphology	79809	TTC21B	ORPHA:474
HP:0001547	Abnormal rib cage morphology	392255	GDF6	OMIM:118100
HP:0001547	Abnormal rib cage morphology	392255	GDF6	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	1836	SLC26A2	ORPHA:628
HP:0001547	Abnormal rib cage morphology	1836	SLC26A2	ORPHA:93298
HP:0001547	Abnormal rib cage morphology	3425	IDUA	ORPHA:93473
HP:0001547	Abnormal rib cage morphology	28514	DLL1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2253	FGF8	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6496	SIX3	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	7050	TGIF1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	4838	NODAL	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6469	SHH	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	7546	ZIC2	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6491	STIL	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2619	GAS1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	84976	DISP1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2736	GLI2	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	8928	FOXH1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	5727	PTCH1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	5727	PTCH1	ORPHA:77301
HP:0001547	Abnormal rib cage morphology	50937	CDON	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	182	JAG1	OMIM:118450
HP:0001547	Abnormal rib cage morphology	6299	SALL1	ORPHA:857
HP:0001547	Abnormal rib cage morphology	51339	DACT1	ORPHA:857
HP:0001547	Abnormal rib cage morphology	55612	FERMT1	ORPHA:2908
HP:0001547	Abnormal rib cage morphology	3664	IRF6	ORPHA:1300
HP:0001547	Abnormal rib cage morphology	3239	HOXD13	ORPHA:887
HP:0001547	Abnormal rib cage morphology	9573	GDF3	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	4222	MEOX1	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	4089	SMAD4	ORPHA:2588
HP:0001547	Abnormal rib cage morphology	64840	PORCN	OMIM:305600
HP:0001547	Abnormal rib cage morphology	64840	PORCN	ORPHA:2092
HP:0001547	Abnormal rib cage morphology	579	NKX3-2	OMIM:613330
HP:0001547	Abnormal rib cage morphology	6608	SMO	OMIM:241800
HP:0001547	Abnormal rib cage morphology	23169	SLC35D1	ORPHA:3144
HP:0001547	Abnormal rib cage morphology	23169	SLC35D1	OMIM:269250
HP:0001547	Abnormal rib cage morphology	267010	RNU12	OMIM:603116
HP:0001547	Abnormal rib cage morphology	249	ALPL	OMIM:241500
HP:0001547	Abnormal rib cage morphology	5331	PLCB3	OMIM:618961
HP:0001547	Abnormal rib cage morphology	50814	NSDHL	OMIM:308050
HP:0001547	Abnormal rib cage morphology	2146	EZH2	OMIM:277590
HP:0001547	Abnormal rib cage morphology	55764	IFT122	OMIM:218330
HP:0001547	Abnormal rib cage morphology	79087	ALG12	OMIM:607143
HP:0001547	Abnormal rib cage morphology	9896	FIG4	ORPHA:3472
HP:0001547	Abnormal rib cage morphology	55697	VAC14	ORPHA:3472
HP:0001547	Abnormal rib cage morphology	26005	C2CD3	OMIM:615948
HP:0001547	Abnormal rib cage morphology	3930	LBR	OMIM:215140
HP:0001547	Abnormal rib cage morphology	6657	SOX2	ORPHA:77298
HP:0001547	Abnormal rib cage morphology	65250	CPLANE1	OMIM:277170
HP:0001547	Abnormal rib cage morphology	259232	NALCN	OMIM:616266
HP:0001547	Abnormal rib cage morphology	650	BMP2	OMIM:617877
HP:0001547	Abnormal rib cage morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001547	Abnormal rib cage morphology	1861	TOR1A	OMIM:618947
HP:0001547	Abnormal rib cage morphology	55835	CENPJ	OMIM:613676
HP:0001547	Abnormal rib cage morphology	5557	PRIM1	OMIM:620005
HP:0001547	Abnormal rib cage morphology	22800	RRAS2	OMIM:618624
HP:0001547	Abnormal rib cage morphology	1788	DNMT3A	OMIM:618724
HP:0001547	Abnormal rib cage morphology	8854	ALDH1A2	OMIM:620025
HP:0001547	Abnormal rib cage morphology	5590	PRKCZ	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	2563	GABRD	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	23013	SPEN	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	8510	MMP23B	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	7798	LUZP1	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	6497	SKI	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	10630	PDPN	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	3339	HSPG2	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	10277	UBE4B	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	8514	KCNAB2	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	473	RERE	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	63976	PRDM16	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	54897	CASZ1	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	526	ATP6V1B2	ORPHA:79500
HP:0001547	Abnormal rib cage morphology	57465	TBC1D24	ORPHA:79500
HP:0001547	Abnormal rib cage morphology	2317	FLNB	OMIM:108720
HP:0001547	Abnormal rib cage morphology	6223	RPS19	OMIM:105650
HP:0001547	Abnormal rib cage morphology	10236	HNRNPR	OMIM:620073
HP:0001547	Abnormal rib cage morphology	222663	SCUBE3	OMIM:619184
HP:0001547	Abnormal rib cage morphology	26229	B3GAT3	OMIM:245600
HP:0001547	Abnormal rib cage morphology	4927	NUP88	OMIM:618393
HP:0001547	Abnormal rib cage morphology	6662	SOX9	ORPHA:140
HP:0001547	Abnormal rib cage morphology	6662	SOX9	OMIM:114290
HP:0001547	Abnormal rib cage morphology	10013	HDAC6	OMIM:300863
HP:0001547	Abnormal rib cage morphology	23114	NFASC	OMIM:618356
HP:0001547	Abnormal rib cage morphology	11041	B4GAT1	OMIM:615287
HP:0001547	Abnormal rib cage morphology	8942	KYNU	OMIM:617661
HP:0001547	Abnormal rib cage morphology	545	ATR	OMIM:210600
HP:0001547	Abnormal rib cage morphology	93627	TBCK	ORPHA:488632
HP:0001547	Abnormal rib cage morphology	29980	DONSON	OMIM:617604
HP:0001547	Abnormal rib cage morphology	22995	CEP152	OMIM:613823
HP:0001547	Abnormal rib cage morphology	2879	GPX4	OMIM:250220
HP:0001547	Abnormal rib cage morphology	126792	B3GALT6	OMIM:271640
HP:0001547	Abnormal rib cage morphology	9131	AIFM1	OMIM:300232
HP:0001547	Abnormal rib cage morphology	5351	PLOD1	OMIM:225400
HP:0001547	Abnormal rib cage morphology	4593	MUSK	OMIM:208150
HP:0001547	Abnormal rib cage morphology	10046	MAMLD1	ORPHA:456328
HP:0001547	Abnormal rib cage morphology	4534	MTM1	ORPHA:456328
HP:0001547	Abnormal rib cage morphology	5530	PPP3CA	OMIM:618265
HP:0001547	Abnormal rib cage morphology	11128	POLR3A	OMIM:264090
HP:0001547	Abnormal rib cage morphology	274	BIN1	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	64419	MTMR14	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	4618	MYF6	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	1785	DNM2	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	1785	DNM2	OMIM:615368
HP:0001547	Abnormal rib cage morphology	6261	RYR1	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	91179	SCARF2	OMIM:600920
HP:0001547	Abnormal rib cage morphology	23233	EXOC6B	OMIM:618395
HP:0001547	Abnormal rib cage morphology	58	ACTA1	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	4703	NEB	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	131377	KLHL40	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	10324	KLHL41	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	56203	LMOD3	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	25914	RTTN	OMIM:614833
HP:0001547	Abnormal rib cage morphology	3911	LAMA5	OMIM:620076
HP:0001547	Abnormal rib cage morphology	64175	P3H1	OMIM:610915
HP:0001547	Abnormal rib cage morphology	6905	TBCE	OMIM:244460
HP:0001547	Abnormal rib cage morphology	6905	TBCE	ORPHA:93324
HP:0001547	Abnormal rib cage morphology	11274	USP18	OMIM:617397
HP:0001547	Abnormal rib cage morphology	55603	TENT5A	OMIM:617952
HP:0001547	Abnormal rib cage morphology	8815	BANF1	OMIM:614008
HP:0001547	Abnormal rib cage morphology	3977	LIFR	OMIM:601559
HP:0001547	Abnormal rib cage morphology	7471	WNT1	OMIM:615220
HP:0001547	Abnormal rib cage morphology	1146	CHRNG	OMIM:253290
HP:0001547	Abnormal rib cage morphology	1144	CHRND	OMIM:253290
HP:0001547	Abnormal rib cage morphology	1134	CHRNA1	OMIM:253290
HP:0001547	Abnormal rib cage morphology	871	SERPINH1	OMIM:613848
HP:0001547	Abnormal rib cage morphology	63901	FAM111A	OMIM:602361
HP:0001547	Abnormal rib cage morphology	139285	AMER1	OMIM:300373
HP:0001547	Abnormal rib cage morphology	9791	PTDSS1	OMIM:151050
HP:0001547	Abnormal rib cage morphology	7030	TFE3	OMIM:301066
HP:0001547	Abnormal rib cage morphology	7476	WNT7A	OMIM:276820
HP:0001547	Abnormal rib cage morphology	538	ATP7A	OMIM:304150
HP:0001547	Abnormal rib cage morphology	64131	XYLT1	ORPHA:370930
HP:0001547	Abnormal rib cage morphology	411	ARSB	OMIM:253200
HP:0001547	Abnormal rib cage morphology	5745	PTH1R	OMIM:600002
HP:0001547	Abnormal rib cage morphology	91754	NEK9	OMIM:617022
HP:0001547	Abnormal rib cage morphology	79639	TMEM53	OMIM:619727
HP:0001547	Abnormal rib cage morphology	3557	IL1RN	OMIM:612852
HP:0001547	Abnormal rib cage morphology	26040	SETBP1	OMIM:269150
HP:0001547	Abnormal rib cage morphology	26040	SETBP1	ORPHA:798
HP:0001547	Abnormal rib cage morphology	3764	KCNJ8	ORPHA:1517
HP:0001547	Abnormal rib cage morphology	10060	ABCC9	ORPHA:1517
HP:0001547	Abnormal rib cage morphology	81794	ADAMTS10	OMIM:277600
HP:0001547	Abnormal rib cage morphology	79631	EFL1	ORPHA:811
HP:0001547	Abnormal rib cage morphology	7317	UBA1	ORPHA:1145
HP:0001547	Abnormal rib cage morphology	3549	IHH	OMIM:607778
HP:0001547	Abnormal rib cage morphology	5130	PCYT1A	OMIM:608940
HP:0001547	Abnormal rib cage morphology	5130	PCYT1A	ORPHA:85167
HP:0001547	Abnormal rib cage morphology	1280	COL2A1	OMIM:200610
HP:0001547	Abnormal rib cage morphology	2121	EVC	OMIM:225500
HP:0001547	Abnormal rib cage morphology	132884	EVC2	OMIM:225500
HP:0001547	Abnormal rib cage morphology	28981	IFT81	OMIM:617895
HP:0001547	Abnormal rib cage morphology	4750	NEK1	OMIM:263520
HP:0001547	Abnormal rib cage morphology	27152	INTU	OMIM:617925
HP:0001547	Abnormal rib cage morphology	9820	CUL7	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	23363	OBSL1	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	83987	CCDC8	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	57539	WDR35	OMIM:613610
HP:0001547	Abnormal rib cage morphology	255758	DYNLT2B	OMIM:617405
HP:0001547	Abnormal rib cage morphology	5826	ABCD4	OMIM:614857
HP:0001547	Abnormal rib cage morphology	2627	GATA6	OMIM:600001
HP:0001547	Abnormal rib cage morphology	2627	GATA6	ORPHA:2255
HP:0001547	Abnormal rib cage morphology	5159	PDGFRB	OMIM:601812
HP:0001547	Abnormal rib cage morphology	29123	ANKRD11	OMIM:148050
HP:0001547	Abnormal rib cage morphology	29123	ANKRD11	ORPHA:2332
HP:0001547	Abnormal rib cage morphology	6651	SON	OMIM:617140
HP:0001547	Abnormal rib cage morphology	6651	SON	ORPHA:500150
HP:0001547	Abnormal rib cage morphology	3899	AFF3	OMIM:619297
HP:0001547	Abnormal rib cage morphology	2719	GPC3	OMIM:312870
HP:0001547	Abnormal rib cage morphology	2239	GPC4	OMIM:312870
HP:0001547	Abnormal rib cage morphology	9939	RBM8A	ORPHA:3320
HP:0001547	Abnormal rib cage morphology	9939	RBM8A	OMIM:274000
HP:0001547	Abnormal rib cage morphology	10992	SF3B2	OMIM:164210
HP:0001547	Abnormal rib cage morphology	55081	IFT57	OMIM:617927
HP:0001547	Abnormal rib cage morphology	54499	TMCO1	ORPHA:1394
HP:0001547	Abnormal rib cage morphology	54499	TMCO1	OMIM:213980
HP:0001547	Abnormal rib cage morphology	7421	VDR	OMIM:277440
HP:0001547	Abnormal rib cage morphology	120227	CYP2R1	OMIM:600081
HP:0001547	Abnormal rib cage morphology	1594	CYP27B1	OMIM:264700
HP:0001547	Abnormal rib cage morphology	142680	SLC34A3	OMIM:241530
HP:0001547	Abnormal rib cage morphology	2131	EXT1	ORPHA:321
HP:0001547	Abnormal rib cage morphology	2131	EXT1	OMIM:133700
HP:0001547	Abnormal rib cage morphology	2132	EXT2	ORPHA:321
HP:0001547	Abnormal rib cage morphology	2132	EXT2	OMIM:133701
HP:0001547	Abnormal rib cage morphology	1497	CTNS	OMIM:219800
HP:0001547	Abnormal rib cage morphology	6569	SLC34A1	ORPHA:157215
HP:0001547	Abnormal rib cage morphology	3423	IDS	ORPHA:217085
HP:0001547	Abnormal rib cage morphology	3423	IDS	ORPHA:217093
HP:0001547	Abnormal rib cage morphology	6448	SGSH	OMIM:252900
HP:0001547	Abnormal rib cage morphology	138050	HGSNAT	OMIM:252930
HP:0001547	Abnormal rib cage morphology	4669	NAGLU	OMIM:252920
HP:0001547	Abnormal rib cage morphology	2799	GNS	OMIM:252940
HP:0001547	Abnormal rib cage morphology	2737	GLI3	ORPHA:672
HP:0001547	Abnormal rib cage morphology	2737	GLI3	OMIM:146510
HP:0001547	Abnormal rib cage morphology	64359	NXN	ORPHA:1507
HP:0001547	Abnormal rib cage morphology	9401	RECQL4	OMIM:218600
HP:0001547	Abnormal rib cage morphology	25970	SH2B1	ORPHA:261197
HP:0001547	Abnormal rib cage morphology	6885	MAP3K7	OMIM:157800
HP:0001547	Abnormal rib cage morphology	4953	ODC1	ORPHA:544488
HP:0001547	Abnormal rib cage morphology	2588	GALNS	OMIM:253000
HP:0001547	Abnormal rib cage morphology	100	ADA	OMIM:102700
HP:0001547	Abnormal rib cage morphology	755	CFAP410	OMIM:602271
HP:0001547	Abnormal rib cage morphology	2261	FGFR3	OMIM:187601
HP:0001547	Abnormal rib cage morphology	2261	FGFR3	OMIM:187600
HP:0001547	Abnormal rib cage morphology	6911	TBX6	ORPHA:1797
HP:0001547	Abnormal rib cage morphology	6911	TBX6	OMIM:122600
HP:0001547	Abnormal rib cage morphology	2294	FOXF1	OMIM:265380
HP:0001547	Abnormal rib cage morphology	64132	XYLT2	OMIM:605822
HP:0001547	Abnormal rib cage morphology	54808	DYM	OMIM:223800
HP:0001547	Abnormal rib cage morphology	10940	POP1	OMIM:617396
HP:0001547	Abnormal rib cage morphology	9469	CHST3	OMIM:143095
HP:0001547	Abnormal rib cage morphology	2517	FUCA1	OMIM:230000
HP:0001547	Abnormal rib cage morphology	55969	RAB5IF	OMIM:616994
HP:0001547	Abnormal rib cage morphology	54361	WNT4	ORPHA:247768
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:115150
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:613707
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:613706
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:163950
HP:0001547	Abnormal rib cage morphology	6399	TRAPPC2	OMIM:313400
HP:0001547	Abnormal rib cage morphology	10847	SRCAP	ORPHA:2044
HP:0001547	Abnormal rib cage morphology	8216	LZTR1	OMIM:605275
HP:0001547	Abnormal rib cage morphology	3845	KRAS	OMIM:609942
HP:0001547	Abnormal rib cage morphology	59341	TRPV4	ORPHA:93314
HP:0001547	Abnormal rib cage morphology	5604	MAP2K1	OMIM:163950
HP:0001547	Abnormal rib cage morphology	5781	PTPN11	OMIM:163950
HP:0001547	Abnormal rib cage morphology	3417	IDH1	ORPHA:99646
HP:0001547	Abnormal rib cage morphology	388015	RTL1	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	8788	DLK1	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	55384	MEG3	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	415	ARSL	ORPHA:79345
HP:0001547	Abnormal rib cage morphology	9241	NOG	OMIM:186500
HP:0001547	Abnormal rib cage morphology	5593	PRKG2	OMIM:619636
HP:0001547	Abnormal rib cage morphology	5251	PHEX	ORPHA:89936
HP:0001547	Abnormal rib cage morphology	4920	ROR2	OMIM:268310
HP:0001547	Abnormal rib cage morphology	9897	WASHC5	OMIM:220210
HP:0001547	Abnormal rib cage morphology	9897	WASHC5	ORPHA:7
HP:0001547	Abnormal rib cage morphology	10606	PAICS	OMIM:619859
HP:0001547	Abnormal rib cage morphology	81839	VANGL1	ORPHA:3027
HP:0001547	Abnormal rib cage morphology	80199	FUZ	ORPHA:3027
HP:0001547	Abnormal rib cage morphology	28952	CCDC22	ORPHA:7
HP:0001547	Abnormal rib cage morphology	4617	MYF5	OMIM:618155
HP:0001547	Abnormal rib cage morphology	112752	IFT43	OMIM:617866
HP:0001547	Abnormal rib cage morphology	2200	FBN1	ORPHA:2462
HP:0001547	Abnormal rib cage morphology	4990	SIX6	OMIM:206900
HP:0001547	Abnormal rib cage morphology	2313	FLI1	ORPHA:2308
HP:0001547	Abnormal rib cage morphology	4148	MATN3	OMIM:608728
HP:0001547	Abnormal rib cage morphology	4921	DDR2	OMIM:271665
HP:0001547	Abnormal rib cage morphology	3636	INPPL1	OMIM:258480
HP:0001547	Abnormal rib cage morphology	633	BGN	OMIM:300106
HP:0001547	Abnormal rib cage morphology	202018	TAPT1	OMIM:616897
HP:0001547	Abnormal rib cage morphology	9321	TRIP11	OMIM:200600
HP:0001547	Abnormal rib cage morphology	90993	CREB3L1	OMIM:616229
HP:0001547	Abnormal rib cage morphology	1277	COL1A1	OMIM:166210
HP:0001547	Abnormal rib cage morphology	1278	COL1A2	OMIM:166210
HP:0001547	Abnormal rib cage morphology	5479	PPIB	OMIM:259440
HP:0001547	Abnormal rib cage morphology	57190	SELENON	OMIM:602771
HP:0001547	Abnormal rib cage morphology	84572	GNPTG	OMIM:252605
HP:0001547	Abnormal rib cage morphology	1947	EFNB1	OMIM:304110
HP:0001547	Abnormal rib cage morphology	4125	MAN2B1	OMIM:248500
HP:0001547	Abnormal rib cage morphology	367	AR	OMIM:312300
HP:0001547	Abnormal rib cage morphology	4247	MGAT2	OMIM:212066
HP:0001547	Abnormal rib cage morphology	3480	IGF1R	OMIM:270450
HP:0001547	Abnormal rib cage morphology	4621	MYH3	OMIM:178110
HP:0001547	Abnormal rib cage morphology	65082	VPS33A	ORPHA:505248
HP:0001547	Abnormal rib cage morphology	54	ACP5	OMIM:607944
HP:0001547	Abnormal rib cage morphology	11014	KDELR2	OMIM:619131
HP:0001547	Abnormal rib cage morphology	1305	COL13A1	OMIM:616720
HP:0001547	Abnormal rib cage morphology	4982	TNFRSF11B	OMIM:239000
HP:0001547	Abnormal rib cage morphology	9451	EIF2AK3	OMIM:226980
HP:0001547	Abnormal rib cage morphology	83452	RAB33B	OMIM:615222
HP:0001547	Abnormal rib cage morphology	22858	CILK1	OMIM:612651
HP:0001547	Abnormal rib cage morphology	176	ACAN	ORPHA:171866
HP:0001547	Abnormal rib cage morphology	176	ACAN	OMIM:612813
HP:0001547	Abnormal rib cage morphology	3265	HRAS	OMIM:218040
HP:0001547	Abnormal rib cage morphology	23184	MESD	OMIM:618644
HP:0001547	Abnormal rib cage morphology	8925	HERC1	ORPHA:457359
HP:0001547	Abnormal rib cage morphology	9578	CDC42BPB	OMIM:619841
HP:0001547	Abnormal rib cage morphology	5728	PTEN	ORPHA:744
HP:0001547	Abnormal rib cage morphology	207	AKT1	ORPHA:744
HP:0001547	Abnormal rib cage morphology	3481	IGF2	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	283120	H19	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	65992	DDRGK1	OMIM:602557
HP:0001547	Abnormal rib cage morphology	84168	ANTXR1	OMIM:230740
HP:0001547	Abnormal rib cage morphology	55733	HHAT	OMIM:600092
HP:0001547	Abnormal rib cage morphology	2263	FGFR2	ORPHA:313855
HP:0001547	Abnormal rib cage morphology	2263	FGFR2	OMIM:614592
HP:0001547	Abnormal rib cage morphology	124583	CANT1	ORPHA:1425
HP:0001547	Abnormal rib cage morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001547	Abnormal rib cage morphology	6913	TBX15	OMIM:260660
HP:0001547	Abnormal rib cage morphology	1436	CSF1R	OMIM:618476
HP:0001547	Abnormal rib cage morphology	89910	UBE3B	OMIM:244450
HP:0001547	Abnormal rib cage morphology	51025	PAM16	OMIM:613320
HP:0001547	Abnormal rib cage morphology	5081	PAX7	OMIM:618578
HP:0001547	Abnormal rib cage morphology	5189	PEX1	OMIM:214100
HP:0001547	Abnormal rib cage morphology	4000	LMNA	ORPHA:1662
HP:0001547	Abnormal rib cage morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001547	Abnormal rib cage morphology	10269	ZMPSTE24	OMIM:275210
HP:0001547	Abnormal rib cage morphology	860	RUNX2	OMIM:119600
HP:0001547	Abnormal rib cage morphology	8517	IKBKG	ORPHA:464
HP:0001547	Abnormal rib cage morphology	8517	IKBKG	OMIM:308300
HP:0001547	Abnormal rib cage morphology	4094	MAF	ORPHA:1272
HP:0001547	Abnormal rib cage morphology	5077	PAX3	OMIM:193500
HP:0001547	Abnormal rib cage morphology	10651	MTX2	OMIM:619127
HP:0001547	Abnormal rib cage morphology	10220	GDF11	OMIM:619122
HP:0001547	Abnormal rib cage morphology	25836	NIPBL	OMIM:122470
HP:0001547	Abnormal rib cage morphology	60	ACTB	ORPHA:64755
HP:0001547	Abnormal rib cage morphology	286	ANK1	ORPHA:251066
HP:0001547	Abnormal rib cage morphology	6231	RPS26	OMIM:613309
HP:0001547	Abnormal rib cage morphology	6628	SNRPB	OMIM:117650
HP:0001547	Abnormal rib cage morphology	79158	GNPTAB	ORPHA:576
HP:0001547	Abnormal rib cage morphology	51119	SBDS	OMIM:260400
HP:0001547	Abnormal rib cage morphology	134218	DNAJC21	OMIM:260400
HP:0001547	Abnormal rib cage morphology	6729	SRP54	OMIM:260400
HP:0001547	Abnormal rib cage morphology	4322	MMP13	OMIM:602111
HP:0001547	Abnormal rib cage morphology	168667	BMPER	OMIM:608022
HP:0001547	Abnormal rib cage morphology	10682	EBP	ORPHA:35173
HP:0001547	Abnormal rib cage morphology	1300	COL10A1	ORPHA:174
HP:0001547	Abnormal rib cage morphology	10491	CRTAP	OMIM:610682
HP:0001547	Abnormal rib cage morphology	8792	TNFRSF11A	OMIM:612301
HP:0001547	Abnormal rib cage morphology	760	CA2	ORPHA:2785
HP:0001547	Abnormal rib cage morphology	4256	MGP	OMIM:245150
HP:0001547	Abnormal rib cage morphology	10861	SLC26A1	OMIM:620372
HP:0001547	Abnormal rib cage morphology	10815	CPLX1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	10815	CPLX1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	54872	PIGG	ORPHA:280
HP:0001547	Abnormal rib cage morphology	7469	NELFA	ORPHA:280
HP:0001547	Abnormal rib cage morphology	1487	CTBP1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	1487	CTBP1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	3954	LETM1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	3954	LETM1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	7468	NSD2	ORPHA:280
HP:0001547	Abnormal rib cage morphology	7468	NSD2	OMIM:194190
HP:0001547	Abnormal rib cage morphology	53834	FGFRL1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	4010	LMX1B	OMIM:161200
HP:0001547	Abnormal rib cage morphology	10262	SF3B4	OMIM:154400
HP:0001547	Abnormal rib cage morphology	79848	CSPP1	ORPHA:397715
HP:0001547	Abnormal rib cage morphology	9786	KIAA0586	ORPHA:397715
HP:0001547	Abnormal rib cage morphology	22827	PUF60	ORPHA:508498
HP:0001547	Abnormal rib cage morphology	55780	ERMARD	ORPHA:75857
HP:0001547	Abnormal rib cage morphology	4297	KMT2A	ORPHA:319182
HP:0001547	Abnormal rib cage morphology	1311	COMP	OMIM:177170
HP:0001547	Abnormal rib cage morphology	153642	ARSK	OMIM:619698
HP:0001547	Abnormal rib cage morphology	2720	GLB1	ORPHA:79255
HP:0001547	Abnormal rib cage morphology	9382	COG1	OMIM:611209
HP:0001547	Abnormal rib cage morphology	9382	COG1	ORPHA:263508
HP:0001547	Abnormal rib cage morphology	55503	TRPV6	OMIM:618188
HP:0001547	Abnormal rib cage morphology	2626	GATA4	ORPHA:251071
HP:0001547	Abnormal rib cage morphology	2990	GUSB	ORPHA:584
HP:0001547	Abnormal rib cage morphology	27238	GPKOW	ORPHA:2570
HP:0001547	Abnormal rib cage morphology	5594	MAPK1	OMIM:619087
HP:0001547	Abnormal rib cage morphology	649	BMP1	OMIM:614856
HP:0001547	Abnormal rib cage morphology	867	CBL	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6016	RIT1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6237	RRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	5894	RAF1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	22808	MRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	200734	SPRED2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	4893	NRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6654	SOS1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6655	SOS2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	5922	RASA2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	7994	KAT6A	OMIM:616268
HP:0001547	Abnormal rib cage morphology	7703	PCGF2	OMIM:618371
HP:0001547	Abnormal rib cage morphology	5566	PRKACA	OMIM:619142
HP:0001547	Abnormal rib cage morphology	5567	PRKACB	OMIM:619143
HP:0001547	Abnormal rib cage morphology	8260	NAA10	ORPHA:568
HP:0001547	Abnormal rib cage morphology	54880	BCOR	ORPHA:568
HP:0001548	Overgrowth	50964	SOST	OMIM:269500
HP:0001548	Overgrowth	5290	PIK3CA	OMIM:612918
HP:0001548	Overgrowth	5290	PIK3CA	ORPHA:276280
HP:0001548	Overgrowth	5290	PIK3CA	OMIM:602501
HP:0001548	Overgrowth	388015	RTL1	ORPHA:254534
HP:0001548	Overgrowth	388015	RTL1	ORPHA:96334
HP:0001548	Overgrowth	8788	DLK1	ORPHA:254534
HP:0001548	Overgrowth	8788	DLK1	ORPHA:96334
HP:0001548	Overgrowth	55384	MEG3	ORPHA:254534
HP:0001548	Overgrowth	55384	MEG3	ORPHA:96334
HP:0001548	Overgrowth	23512	SUZ12	OMIM:618786
HP:0001548	Overgrowth	5728	PTEN	OMIM:605309
HP:0001548	Overgrowth	84282	RNF135	ORPHA:137634
HP:0001548	Overgrowth	1788	DNMT3A	OMIM:615879
HP:0001548	Overgrowth	3845	KRAS	OMIM:163200
HP:0001548	Overgrowth	4893	NRAS	OMIM:163200
HP:0001548	Overgrowth	3265	HRAS	OMIM:163200
HP:0001548	Overgrowth	3265	HRAS	OMIM:218040
HP:0001548	Overgrowth	3190	HNRNPK	ORPHA:453504
HP:0001548	Overgrowth	3190	HNRNPK	ORPHA:352665
HP:0001548	Overgrowth	2099	ESR1	ORPHA:785
HP:0001548	Overgrowth	23405	DICER1	OMIM:618272
HP:0001548	Overgrowth	79813	EHMT1	ORPHA:261652
HP:0001548	Overgrowth	58508	KMT2C	ORPHA:261652
HP:0001548	Overgrowth	3021	H3-3B	OMIM:619721
HP:0001548	Overgrowth	9158	FIBP	OMIM:617107
HP:0001548	Overgrowth	4784	NFIX	OMIM:614753
HP:0001548	Overgrowth	30008	EFEMP2	OMIM:614437
HP:0001548	Overgrowth	29072	SETD2	OMIM:620157
HP:0001548	Overgrowth	29072	SETD2	OMIM:620155
HP:0001548	Overgrowth	29072	SETD2	OMIM:616831
HP:0001548	Overgrowth	5296	PIK3R2	OMIM:603387
HP:0001548	Overgrowth	4763	NF1	OMIM:162200
HP:0001548	Overgrowth	8925	HERC1	ORPHA:457359
HP:0001548	Overgrowth	64324	NSD1	OMIM:117550
HP:0001548	Overgrowth	3339	HSPG2	OMIM:224410
HP:0001548	Overgrowth	54757	FAM20A	OMIM:204690
HP:0001548	Overgrowth	1028	CDKN1C	OMIM:130650
HP:0001548	Overgrowth	10984	KCNQ1OT1	OMIM:130650
HP:0001548	Overgrowth	3481	IGF2	OMIM:130650
HP:0001548	Overgrowth	3784	KCNQ1	OMIM:130650
HP:0001548	Overgrowth	815	CAMK2A	OMIM:617798
HP:0001548	Overgrowth	23229	ARHGEF9	OMIM:300607
HP:0001548	Overgrowth	2146	EZH2	OMIM:277590
HP:0001548	Overgrowth	10516	FBLN5	OMIM:219100
HP:0001548	Overgrowth	8726	EED	OMIM:617561
HP:0001548	Overgrowth	5159	PDGFRB	OMIM:616592
HP:0001548	Overgrowth	5277	PIGA	OMIM:300868
HP:0001548	Overgrowth	7043	TGFB3	OMIM:615582
HP:0001548	Overgrowth	83550	GPR101	OMIM:300942
HP:0001548	Overgrowth	2719	GPC3	OMIM:312870
HP:0001548	Overgrowth	2239	GPC4	OMIM:312870
HP:0001549	Abnormal ileum morphology	2294	FOXF1	OMIM:265380
HP:0001549	Abnormal ileum morphology	404672	GTF2H5	OMIM:616395
HP:0001549	Abnormal ileum morphology	222546	RFX6	OMIM:615710
HP:0001549	Abnormal ileum morphology	2719	GPC3	OMIM:312870
HP:0001549	Abnormal ileum morphology	2239	GPC4	OMIM:312870
HP:0001549	Abnormal ileum morphology	2260	FGFR1	OMIM:190440
HP:0001549	Abnormal ileum morphology	672	BRCA1	ORPHA:84
HP:0001549	Abnormal ileum morphology	10459	MAD2L2	ORPHA:84
HP:0001549	Abnormal ileum morphology	7516	XRCC2	ORPHA:84
HP:0001549	Abnormal ileum morphology	29089	UBE2T	ORPHA:84
HP:0001549	Abnormal ileum morphology	675	BRCA2	ORPHA:84
HP:0001549	Abnormal ileum morphology	55120	FANCL	ORPHA:84
HP:0001549	Abnormal ileum morphology	2177	FANCD2	ORPHA:84
HP:0001549	Abnormal ileum morphology	2175	FANCA	ORPHA:84
HP:0001549	Abnormal ileum morphology	2187	FANCB	ORPHA:84
HP:0001549	Abnormal ileum morphology	2176	FANCC	ORPHA:84
HP:0001549	Abnormal ileum morphology	2178	FANCE	ORPHA:84
HP:0001549	Abnormal ileum morphology	2188	FANCF	ORPHA:84
HP:0001549	Abnormal ileum morphology	2189	FANCG	ORPHA:84
HP:0001549	Abnormal ileum morphology	5888	RAD51	ORPHA:84
HP:0001549	Abnormal ileum morphology	5889	RAD51C	ORPHA:84
HP:0001549	Abnormal ileum morphology	55159	RFWD3	ORPHA:84
HP:0001549	Abnormal ileum morphology	83990	BRIP1	ORPHA:84
HP:0001549	Abnormal ileum morphology	57697	FANCM	ORPHA:84
HP:0001549	Abnormal ileum morphology	79728	PALB2	ORPHA:84
HP:0001549	Abnormal ileum morphology	84464	SLX4	ORPHA:84
HP:0001549	Abnormal ileum morphology	2072	ERCC4	ORPHA:84
HP:0001549	Abnormal ileum morphology	55215	FANCI	ORPHA:84
HP:0001549	Abnormal ileum morphology	9939	RBM8A	OMIM:274000
HP:0001549	Abnormal ileum morphology	8241	RBM10	OMIM:311900
HP:0001549	Abnormal ileum morphology	5297	PI4KA	ORPHA:436252
HP:0001549	Abnormal ileum morphology	4659	PPP1R12A	OMIM:618820
HP:0001549	Abnormal ileum morphology	57217	TTC7A	OMIM:243150
HP:0001549	Abnormal ileum morphology	4629	MYH11	OMIM:619351
HP:0001549	Abnormal ileum morphology	29925	GMPPB	OMIM:615351
HP:0001549	Abnormal ileum morphology	7128	TNFAIP3	OMIM:616744
HP:0001549	Abnormal ileum morphology	22900	CARD8	OMIM:619079
HP:0001549	Abnormal ileum morphology	5970	RELA	OMIM:618287
HP:0001549	Abnormal ileum morphology	129563	DIS3L2	OMIM:267000
HP:0008707	Absent scrotum	3284	HSD3B2	OMIM:201810
HP:0008707	Absent scrotum	4081	MAB21L1	OMIM:618479
HP:0008706	Distal urethral duplication	2737	GLI3	OMIM:146510
HP:0003250	Aplasia of the vagina	2625	GATA3	OMIM:146255
HP:0003250	Aplasia of the vagina	54361	WNT4	OMIM:158330
HP:0003250	Aplasia of the vagina	5518	PPP2R1A	ORPHA:457284
HP:0003250	Aplasia of the vagina	5077	PAX3	OMIM:193500
HP:0008708	Partial development of the penile shaft	7259	TSPYL1	OMIM:608800
HP:0011766	Abnormality of the parathyroid morphology	2625	GATA3	ORPHA:2237
HP:0011766	Abnormality of the parathyroid morphology	6899	TBX1	OMIM:188400
HP:0011766	Abnormality of the parathyroid morphology	55636	CHD7	OMIM:214800
HP:0011766	Abnormality of the parathyroid morphology	201163	FLCN	ORPHA:122
HP:0011766	Abnormality of the parathyroid morphology	4763	NF1	OMIM:162200
HP:0011766	Abnormality of the parathyroid morphology	846	CASR	OMIM:145980
HP:0011766	Abnormality of the parathyroid morphology	1188	CLCNKB	ORPHA:358
HP:0011766	Abnormality of the parathyroid morphology	6559	SLC12A3	ORPHA:358
HP:0011766	Abnormality of the parathyroid morphology	79577	CDC73	OMIM:145001
HP:0011766	Abnormality of the parathyroid morphology	79577	CDC73	ORPHA:143
HP:0011766	Abnormality of the parathyroid morphology	79577	CDC73	OMIM:608266
HP:0011766	Abnormality of the parathyroid morphology	4221	MEN1	ORPHA:652
HP:0011766	Abnormality of the parathyroid morphology	1027	CDKN1B	ORPHA:652
HP:0011766	Abnormality of the parathyroid morphology	1027	CDKN1B	ORPHA:276152
HP:0011766	Abnormality of the parathyroid morphology	1026	CDKN1A	ORPHA:652
HP:0011766	Abnormality of the parathyroid morphology	1030	CDKN2B	ORPHA:652
HP:0011766	Abnormality of the parathyroid morphology	1031	CDKN2C	ORPHA:652
HP:0011766	Abnormality of the parathyroid morphology	5979	RET	OMIM:162300
HP:0011766	Abnormality of the parathyroid morphology	3458	IFNG	ORPHA:805
HP:0011766	Abnormality of the parathyroid morphology	7248	TSC1	ORPHA:805
HP:0011766	Abnormality of the parathyroid morphology	7249	TSC2	ORPHA:805
HP:0011766	Abnormality of the parathyroid morphology	9365	KL	OMIM:617994
HP:0011766	Abnormality of the parathyroid morphology	9247	GCM2	ORPHA:2239
HP:0011766	Abnormality of the parathyroid morphology	3418	IDH2	ORPHA:163634
HP:0011766	Abnormality of the parathyroid morphology	3417	IDH1	ORPHA:163634
HP:0011767	Abnormality of the parathyroid physiology	3981	LIG4	ORPHA:235
HP:0011767	Abnormality of the parathyroid physiology	54888	NSUN2	ORPHA:235
HP:0011767	Abnormality of the parathyroid physiology	4558	MT-TF	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4572	MT-TQ	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4512	MT-CO1	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4513	MT-CO2	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4514	MT-CO3	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4578	MT-TW	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4540	MT-ND5	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4541	MT-ND6	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4535	MT-ND1	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4538	MT-ND4	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4567	MT-TL1	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4574	MT-TS1	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4575	MT-TS2	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	4564	MT-TH	ORPHA:550
HP:0011767	Abnormality of the parathyroid physiology	6909	TBX2	OMIM:618223
HP:0011767	Abnormality of the parathyroid physiology	5745	PTH1R	OMIM:156400
HP:0011767	Abnormality of the parathyroid physiology	326	AIRE	OMIM:240300
HP:0011767	Abnormality of the parathyroid physiology	326	AIRE	ORPHA:3453
HP:0011767	Abnormality of the parathyroid physiology	3043	HBB	ORPHA:231214
HP:0011767	Abnormality of the parathyroid physiology	3043	HBB	ORPHA:231222
HP:0011767	Abnormality of the parathyroid physiology	3043	HBB	ORPHA:231226
HP:0011767	Abnormality of the parathyroid physiology	10265	IRX5	OMIM:611174
HP:0011767	Abnormality of the parathyroid physiology	51604	PIGT	ORPHA:369837
HP:0011767	Abnormality of the parathyroid physiology	2625	GATA3	ORPHA:2237
HP:0011767	Abnormality of the parathyroid physiology	2625	GATA3	OMIM:146255
HP:0011767	Abnormality of the parathyroid physiology	5741	PTH	OMIM:146200
HP:0011767	Abnormality of the parathyroid physiology	63901	FAM111A	OMIM:127000
HP:0011767	Abnormality of the parathyroid physiology	3032	HADHB	ORPHA:746
HP:0011767	Abnormality of the parathyroid physiology	3030	HADHA	ORPHA:746
HP:0011767	Abnormality of the parathyroid physiology	7080	NKX2-1	ORPHA:209905
HP:0011767	Abnormality of the parathyroid physiology	1312	COMT	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	221037	JMJD1C	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	2812	GP1BB	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	6239	RREB1	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	6899	TBX1	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	6899	TBX1	OMIM:192430
HP:0011767	Abnormality of the parathyroid physiology	7290	HIRA	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	9632	SEC24C	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	7353	UFD1	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	421	ARVCF	ORPHA:567
HP:0011767	Abnormality of the parathyroid physiology	6905	TBCE	ORPHA:496756
HP:0011767	Abnormality of the parathyroid physiology	6905	TBCE	ORPHA:2323
HP:0011767	Abnormality of the parathyroid physiology	55636	CHD7	OMIM:214800
HP:0011767	Abnormality of the parathyroid physiology	9993	DGCR2	OMIM:192430
HP:0011767	Abnormality of the parathyroid physiology	8220	ESS2	OMIM:192430
HP:0011767	Abnormality of the parathyroid physiology	8214	DGCR6	OMIM:192430
HP:0011767	Abnormality of the parathyroid physiology	54487	DGCR8	OMIM:192430
HP:0011767	Abnormality of the parathyroid physiology	1287	COL4A5	OMIM:301050
HP:0011767	Abnormality of the parathyroid physiology	540	ATP7B	OMIM:277900
HP:0011767	Abnormality of the parathyroid physiology	6557	SLC12A1	OMIM:601678
HP:0011767	Abnormality of the parathyroid physiology	7421	VDR	ORPHA:93160
HP:0011767	Abnormality of the parathyroid physiology	9071	CLDN10	OMIM:617671
HP:0011767	Abnormality of the parathyroid physiology	5979	RET	OMIM:171400
HP:0011767	Abnormality of the parathyroid physiology	55503	TRPV6	OMIM:618188
HP:0011767	Abnormality of the parathyroid physiology	72	ACTG2	ORPHA:2604
HP:0011767	Abnormality of the parathyroid physiology	2591	GALNT3	OMIM:211900
HP:0011767	Abnormality of the parathyroid physiology	9842	PLEKHM1	OMIM:618107
HP:0011767	Abnormality of the parathyroid physiology	6522	SLC4A2	OMIM:620366
HP:0011767	Abnormality of the parathyroid physiology	3766	KCNJ10	ORPHA:705
HP:0011767	Abnormality of the parathyroid physiology	2299	FOXI1	ORPHA:705
HP:0011767	Abnormality of the parathyroid physiology	5172	SLC26A4	ORPHA:705
HP:0011767	Abnormality of the parathyroid physiology	4952	OCRL	ORPHA:534
HP:0011767	Abnormality of the parathyroid physiology	5573	PRKAR1A	ORPHA:280651
HP:0011767	Abnormality of the parathyroid physiology	5144	PDE4D	ORPHA:280651
HP:0011767	Abnormality of the parathyroid physiology	149775	GNAS-AS1	OMIM:603233
HP:0011767	Abnormality of the parathyroid physiology	8675	STX16	OMIM:603233
HP:0011767	Abnormality of the parathyroid physiology	8675	STX16	ORPHA:94089
HP:0011767	Abnormality of the parathyroid physiology	54496	PRMT7	OMIM:617157
HP:0011767	Abnormality of the parathyroid physiology	54496	PRMT7	ORPHA:464288
HP:0011767	Abnormality of the parathyroid physiology	1594	CYP27B1	OMIM:264700
HP:0011767	Abnormality of the parathyroid physiology	1594	CYP27B1	ORPHA:289157
HP:0011767	Abnormality of the parathyroid physiology	760	CA2	ORPHA:2785
HP:0011767	Abnormality of the parathyroid physiology	120227	CYP2R1	ORPHA:289157
HP:0011767	Abnormality of the parathyroid physiology	9247	GCM2	ORPHA:2239
HP:0011767	Abnormality of the parathyroid physiology	4221	MEN1	ORPHA:652
HP:0011767	Abnormality of the parathyroid physiology	4221	MEN1	ORPHA:99879
HP:0011767	Abnormality of the parathyroid physiology	4221	MEN1	ORPHA:97279
HP:0011767	Abnormality of the parathyroid physiology	1027	CDKN1B	ORPHA:652
HP:0011767	Abnormality of the parathyroid physiology	1027	CDKN1B	OMIM:610755
HP:0011767	Abnormality of the parathyroid physiology	1026	CDKN1A	ORPHA:652
HP:0011767	Abnormality of the parathyroid physiology	1030	CDKN2B	ORPHA:652
HP:0011767	Abnormality of the parathyroid physiology	1031	CDKN2C	ORPHA:652
HP:0011767	Abnormality of the parathyroid physiology	79577	CDC73	ORPHA:143
HP:0011767	Abnormality of the parathyroid physiology	79577	CDC73	ORPHA:99880
HP:0011767	Abnormality of the parathyroid physiology	79577	CDC73	OMIM:145000
HP:0011767	Abnormality of the parathyroid physiology	79577	CDC73	ORPHA:99879
HP:0011767	Abnormality of the parathyroid physiology	1175	AP2S1	OMIM:600740
HP:0011767	Abnormality of the parathyroid physiology	79798	ARMC5	ORPHA:189427
HP:0011767	Abnormality of the parathyroid physiology	2778	GNAS	ORPHA:189427
HP:0011767	Abnormality of the parathyroid physiology	2767	GNA11	OMIM:145981
HP:0011767	Abnormality of the parathyroid physiology	7528	YY1	ORPHA:97279
HP:0011767	Abnormality of the parathyroid physiology	846	CASR	OMIM:239200
HP:0011768	Parathyroid dysgenesis	2625	GATA3	ORPHA:2237
HP:0011768	Parathyroid dysgenesis	6899	TBX1	OMIM:188400
HP:0011768	Parathyroid dysgenesis	55636	CHD7	OMIM:214800
HP:0011768	Parathyroid dysgenesis	9247	GCM2	ORPHA:2239
HP:0011762	Pituitary thyrotropic cell adenoma	4221	MEN1	ORPHA:652
HP:0011762	Pituitary thyrotropic cell adenoma	1027	CDKN1B	ORPHA:652
HP:0011762	Pituitary thyrotropic cell adenoma	1026	CDKN1A	ORPHA:652
HP:0011762	Pituitary thyrotropic cell adenoma	1030	CDKN2B	ORPHA:652
HP:0011762	Pituitary thyrotropic cell adenoma	1031	CDKN2C	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	51726	DNAJB11	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	23193	GANAB	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	5310	PKD1	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	5311	PKD2	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	29880	ALG5	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	9742	IFT140	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	79796	ALG9	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	80114	BICC1	ORPHA:730
HP:0011760	Pituitary growth hormone cell adenoma	4221	MEN1	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	4221	MEN1	ORPHA:99725
HP:0011760	Pituitary growth hormone cell adenoma	1027	CDKN1B	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	1027	CDKN1B	ORPHA:276152
HP:0011760	Pituitary growth hormone cell adenoma	1026	CDKN1A	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	1030	CDKN2B	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	1031	CDKN2C	ORPHA:652
HP:0011760	Pituitary growth hormone cell adenoma	9049	AIP	ORPHA:99725
HP:0011760	Pituitary growth hormone cell adenoma	9049	AIP	ORPHA:963
HP:0011760	Pituitary growth hormone cell adenoma	9049	AIP	OMIM:102200
HP:0011760	Pituitary growth hormone cell adenoma	83550	GPR101	ORPHA:963
HP:0011760	Pituitary growth hormone cell adenoma	5573	PRKAR1A	ORPHA:1359
HP:0011760	Pituitary growth hormone cell adenoma	50940	PDE11A	ORPHA:1359
HP:0011761	Pituitary null cell adenoma	4221	MEN1	ORPHA:652
HP:0011761	Pituitary null cell adenoma	1027	CDKN1B	ORPHA:652
HP:0011761	Pituitary null cell adenoma	1027	CDKN1B	ORPHA:276152
HP:0011761	Pituitary null cell adenoma	1026	CDKN1A	ORPHA:652
HP:0011761	Pituitary null cell adenoma	1030	CDKN2B	ORPHA:652
HP:0011761	Pituitary null cell adenoma	1031	CDKN2C	ORPHA:652
HP:0000050	Hypoplastic male external genitalia	341640	FREM2	ORPHA:2052
HP:0000050	Hypoplastic male external genitalia	23426	GRIP1	ORPHA:2052
HP:0000050	Hypoplastic male external genitalia	23426	GRIP1	OMIM:617667
HP:0000050	Hypoplastic male external genitalia	10056	FARSB	OMIM:613658
HP:0000050	Hypoplastic male external genitalia	84172	POLR1B	ORPHA:861
HP:0000050	Hypoplastic male external genitalia	9533	POLR1C	ORPHA:861
HP:0000050	Hypoplastic male external genitalia	51082	POLR1D	ORPHA:861
HP:0000050	Hypoplastic male external genitalia	6949	TCOF1	ORPHA:861
HP:0000050	Hypoplastic male external genitalia	51124	IER3IP1	OMIM:614231
HP:0000050	Hypoplastic male external genitalia	3664	IRF6	OMIM:119500
HP:0000050	Hypoplastic male external genitalia	3664	IRF6	ORPHA:1300
HP:0000050	Hypoplastic male external genitalia	22858	CILK1	OMIM:612651
HP:0000050	Hypoplastic male external genitalia	6595	SMARCA2	ORPHA:2728
HP:0000050	Hypoplastic male external genitalia	10982	MAPRE2	OMIM:616734
HP:0000050	Hypoplastic male external genitalia	10982	MAPRE2	ORPHA:2505
HP:0000050	Hypoplastic male external genitalia	5818	NECTIN1	ORPHA:3253
HP:0000050	Hypoplastic male external genitalia	6638	SNRPN	ORPHA:98754
HP:0000050	Hypoplastic male external genitalia	6638	SNRPN	ORPHA:177904
HP:0000050	Hypoplastic male external genitalia	6638	SNRPN	ORPHA:177901
HP:0000050	Hypoplastic male external genitalia	4692	NDN	ORPHA:98754
HP:0000050	Hypoplastic male external genitalia	4692	NDN	ORPHA:177904
HP:0000050	Hypoplastic male external genitalia	4692	NDN	ORPHA:177901
HP:0000050	Hypoplastic male external genitalia	4948	OCA2	ORPHA:98754
HP:0000050	Hypoplastic male external genitalia	4948	OCA2	ORPHA:177904
HP:0000050	Hypoplastic male external genitalia	4948	OCA2	ORPHA:177901
HP:0000050	Hypoplastic male external genitalia	7259	TSPYL1	ORPHA:168593
HP:0000050	Hypoplastic male external genitalia	7476	WNT7A	OMIM:276820
HP:0000050	Hypoplastic male external genitalia	4621	MYH3	ORPHA:2990
HP:0000050	Hypoplastic male external genitalia	1146	CHRNG	ORPHA:2990
HP:0000050	Hypoplastic male external genitalia	652	BMP4	OMIM:607932
HP:0000050	Hypoplastic male external genitalia	8295	TRRAP	OMIM:618454
HP:0000050	Hypoplastic male external genitalia	203068	TUBB	ORPHA:2505
HP:0000050	Hypoplastic male external genitalia	4000	LMNA	ORPHA:740
HP:0000050	Hypoplastic male external genitalia	10269	ZMPSTE24	ORPHA:740
HP:0000050	Hypoplastic male external genitalia	25836	NIPBL	OMIM:122470
HP:0000050	Hypoplastic male external genitalia	8087	FXR1	OMIM:618823
HP:0000050	Hypoplastic male external genitalia	51259	TMEM216	OMIM:608091
HP:0000050	Hypoplastic male external genitalia	10274	STAG1	ORPHA:502434
HP:0000050	Hypoplastic male external genitalia	2218	FKTN	OMIM:236670
HP:0000050	Hypoplastic male external genitalia	8450	CUL4B	OMIM:300354
HP:0000050	Hypoplastic male external genitalia	8294	H4C9	OMIM:619951
HP:0000050	Hypoplastic male external genitalia	10046	MAMLD1	ORPHA:456328
HP:0000050	Hypoplastic male external genitalia	10046	MAMLD1	ORPHA:95706
HP:0000050	Hypoplastic male external genitalia	4534	MTM1	ORPHA:456328
HP:0000050	Hypoplastic male external genitalia	4750	NEK1	OMIM:263520
HP:0000050	Hypoplastic male external genitalia	128674	PROKR2	OMIM:244200
HP:0000050	Hypoplastic male external genitalia	128674	PROKR2	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	128674	PROKR2	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	201595	STT3B	OMIM:615597
HP:0000050	Hypoplastic male external genitalia	201595	STT3B	ORPHA:370924
HP:0000050	Hypoplastic male external genitalia	6938	TCF12	OMIM:619718
HP:0000050	Hypoplastic male external genitalia	91801	ALKBH8	OMIM:618504
HP:0000050	Hypoplastic male external genitalia	3209	HOXA13	OMIM:140000
HP:0000050	Hypoplastic male external genitalia	80144	FRAS1	OMIM:219000
HP:0000050	Hypoplastic male external genitalia	5447	POR	ORPHA:95699
HP:0000050	Hypoplastic male external genitalia	5447	POR	OMIM:201750
HP:0000050	Hypoplastic male external genitalia	4983	OPHN1	OMIM:300486
HP:0000050	Hypoplastic male external genitalia	197131	UBR1	OMIM:243800
HP:0000050	Hypoplastic male external genitalia	4281	MID1	OMIM:300000
HP:0000050	Hypoplastic male external genitalia	6716	SRD5A2	OMIM:264600
HP:0000050	Hypoplastic male external genitalia	374654	KIF7	OMIM:200990
HP:0000050	Hypoplastic male external genitalia	9578	CDC42BPB	OMIM:619841
HP:0000050	Hypoplastic male external genitalia	1855	DVL1	OMIM:616331
HP:0000050	Hypoplastic male external genitalia	1855	DVL1	OMIM:180700
HP:0000050	Hypoplastic male external genitalia	58	ACTA1	ORPHA:171430
HP:0000050	Hypoplastic male external genitalia	4703	NEB	ORPHA:171430
HP:0000050	Hypoplastic male external genitalia	131377	KLHL40	ORPHA:171430
HP:0000050	Hypoplastic male external genitalia	10324	KLHL41	ORPHA:171430
HP:0000050	Hypoplastic male external genitalia	56203	LMOD3	ORPHA:171430
HP:0000050	Hypoplastic male external genitalia	1723	DHODH	OMIM:263750
HP:0000050	Hypoplastic male external genitalia	1528	CYB5A	ORPHA:90796
HP:0000050	Hypoplastic male external genitalia	1528	CYB5A	OMIM:250790
HP:0000050	Hypoplastic male external genitalia	1586	CYP17A1	ORPHA:90796
HP:0000050	Hypoplastic male external genitalia	1586	CYP17A1	ORPHA:90793
HP:0000050	Hypoplastic male external genitalia	1841	DTYMK	OMIM:619847
HP:0000050	Hypoplastic male external genitalia	4010	LMX1B	ORPHA:495818
HP:0000050	Hypoplastic male external genitalia	6812	STXBP1	ORPHA:495818
HP:0000050	Hypoplastic male external genitalia	367	AR	ORPHA:90797
HP:0000050	Hypoplastic male external genitalia	367	AR	OMIM:312300
HP:0000050	Hypoplastic male external genitalia	367	AR	ORPHA:95706
HP:0000050	Hypoplastic male external genitalia	79947	DHDDS	OMIM:613861
HP:0000050	Hypoplastic male external genitalia	56623	INPP5E	ORPHA:75858
HP:0000050	Hypoplastic male external genitalia	56623	INPP5E	OMIM:610156
HP:0000050	Hypoplastic male external genitalia	25782	RAB3GAP2	OMIM:212720
HP:0000050	Hypoplastic male external genitalia	25782	RAB3GAP2	OMIM:614225
HP:0000050	Hypoplastic male external genitalia	84634	KISS1R	OMIM:614837
HP:0000050	Hypoplastic male external genitalia	84634	KISS1R	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	26012	NSMF	OMIM:614838
HP:0000050	Hypoplastic male external genitalia	26012	NSMF	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	1161	ERCC8	OMIM:216400
HP:0000050	Hypoplastic male external genitalia	55636	CHD7	ORPHA:138
HP:0000050	Hypoplastic male external genitalia	55636	CHD7	OMIM:214800
HP:0000050	Hypoplastic male external genitalia	55636	CHD7	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	55636	CHD7	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	9723	SEMA3E	ORPHA:138
HP:0000050	Hypoplastic male external genitalia	9723	SEMA3E	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	3703	STT3A	ORPHA:370921
HP:0000050	Hypoplastic male external genitalia	170302	ARX	OMIM:300215
HP:0000050	Hypoplastic male external genitalia	170302	ARX	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	170302	ARX	OMIM:308350
HP:0000050	Hypoplastic male external genitalia	10584	COLEC10	OMIM:248340
HP:0000050	Hypoplastic male external genitalia	6870	TACR3	OMIM:614840
HP:0000050	Hypoplastic male external genitalia	6870	TACR3	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	6870	TACR3	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	23522	KAT6B	OMIM:606170
HP:0000050	Hypoplastic male external genitalia	1889	ECE1	OMIM:613870
HP:0000050	Hypoplastic male external genitalia	3952	LEP	OMIM:614962
HP:0000050	Hypoplastic male external genitalia	2796	GNRH1	OMIM:614841
HP:0000050	Hypoplastic male external genitalia	2796	GNRH1	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	2796	GNRH1	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	2688	GH1	OMIM:612781
HP:0000050	Hypoplastic male external genitalia	815	CAMK2A	OMIM:617798
HP:0000050	Hypoplastic male external genitalia	5015	OTX2	OMIM:610125
HP:0000050	Hypoplastic male external genitalia	84100	ARL6	OMIM:209900
HP:0000050	Hypoplastic male external genitalia	79140	CCDC28B	OMIM:209900
HP:0000050	Hypoplastic male external genitalia	582	BBS1	OMIM:209900
HP:0000050	Hypoplastic male external genitalia	114034	TOE1	OMIM:614969
HP:0000050	Hypoplastic male external genitalia	114034	TOE1	ORPHA:284339
HP:0000050	Hypoplastic male external genitalia	79087	ALG12	OMIM:607143
HP:0000050	Hypoplastic male external genitalia	79087	ALG12	ORPHA:79324
HP:0000050	Hypoplastic male external genitalia	1717	DHCR7	OMIM:270400
HP:0000050	Hypoplastic male external genitalia	23116	TOGARAM1	OMIM:619185
HP:0000050	Hypoplastic male external genitalia	9839	ZEB2	ORPHA:261552
HP:0000050	Hypoplastic male external genitalia	9839	ZEB2	ORPHA:261537
HP:0000050	Hypoplastic male external genitalia	84823	LMNB2	OMIM:619180
HP:0000050	Hypoplastic male external genitalia	23347	SMCHD1	OMIM:603457
HP:0000050	Hypoplastic male external genitalia	6926	TBX3	OMIM:181450
HP:0000050	Hypoplastic male external genitalia	9896	FIG4	ORPHA:3472
HP:0000050	Hypoplastic male external genitalia	9896	FIG4	OMIM:216340
HP:0000050	Hypoplastic male external genitalia	55697	VAC14	ORPHA:3472
HP:0000050	Hypoplastic male external genitalia	283987	HID1	OMIM:619983
HP:0000050	Hypoplastic male external genitalia	1656	DDX6	OMIM:618653
HP:0000050	Hypoplastic male external genitalia	132158	GLYCTK	OMIM:220120
HP:0000050	Hypoplastic male external genitalia	80776	B9D2	OMIM:614175
HP:0000050	Hypoplastic male external genitalia	55148	UBR7	OMIM:619189
HP:0000050	Hypoplastic male external genitalia	558	AXL	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	2798	GNRHR	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	2798	GNRHR	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	10011	SRA1	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	55717	WDR11	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	55717	WDR11	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	55717	WDR11	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	8822	FGF17	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	8822	FGF17	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	8822	FGF17	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	1848	DUSP6	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	1848	DUSP6	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	1848	DUSP6	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	81848	SPRY4	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	81848	SPRY4	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	81848	SPRY4	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	285025	CCDC141	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	285025	CCDC141	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	389549	FEZF1	OMIM:146110
HP:0000050	Hypoplastic male external genitalia	389549	FEZF1	OMIM:616030
HP:0000050	Hypoplastic male external genitalia	389549	FEZF1	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	79813	EHMT1	OMIM:610253
HP:0000050	Hypoplastic male external genitalia	1009	CDH11	ORPHA:1299
HP:0000050	Hypoplastic male external genitalia	1954	MEGF8	OMIM:614976
HP:0000050	Hypoplastic male external genitalia	2783	GNB2	OMIM:619503
HP:0000050	Hypoplastic male external genitalia	6662	SOX9	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	6845	VAMP7	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	51741	WWOX	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	4214	MAP3K1	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	2516	NR5A1	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	2516	NR5A1	OMIM:617480
HP:0000050	Hypoplastic male external genitalia	7490	WT1	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	58524	DMRT3	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	57647	DHX37	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	6736	SRY	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	6736	SRY	ORPHA:1772
HP:0000050	Hypoplastic male external genitalia	23414	ZFPM2	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	190	NR0B1	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	2626	GATA4	ORPHA:251510
HP:0000050	Hypoplastic male external genitalia	1028	CDKN1C	OMIM:614732
HP:0000050	Hypoplastic male external genitalia	26005	C2CD3	OMIM:615948
HP:0000050	Hypoplastic male external genitalia	26040	SETBP1	OMIM:269150
HP:0000050	Hypoplastic male external genitalia	26040	SETBP1	ORPHA:798
HP:0000050	Hypoplastic male external genitalia	63901	FAM111A	OMIM:602361
HP:0000050	Hypoplastic male external genitalia	7840	ALMS1	ORPHA:64
HP:0000050	Hypoplastic male external genitalia	79659	DYNC2H1	OMIM:613091
HP:0000050	Hypoplastic male external genitalia	253738	EBF3	OMIM:617330
HP:0000050	Hypoplastic male external genitalia	6905	TBCE	OMIM:241410
HP:0000050	Hypoplastic male external genitalia	1349	COX7B	OMIM:309801
HP:0000050	Hypoplastic male external genitalia	3052	HCCS	OMIM:309801
HP:0000050	Hypoplastic male external genitalia	54539	NDUFB11	OMIM:309801
HP:0000050	Hypoplastic male external genitalia	8879	SGPL1	OMIM:617575
HP:0000050	Hypoplastic male external genitalia	80067	DCAF17	ORPHA:3464
HP:0000050	Hypoplastic male external genitalia	80067	DCAF17	OMIM:241080
HP:0000050	Hypoplastic male external genitalia	1859	DYRK1A	ORPHA:464311
HP:0000050	Hypoplastic male external genitalia	1859	DYRK1A	ORPHA:268261
HP:0000050	Hypoplastic male external genitalia	2736	GLI2	OMIM:610829
HP:0000050	Hypoplastic male external genitalia	2736	GLI2	OMIM:615849
HP:0000050	Hypoplastic male external genitalia	10236	HNRNPR	OMIM:620073
HP:0000050	Hypoplastic male external genitalia	79718	TBL1XR1	OMIM:602342
HP:0000050	Hypoplastic male external genitalia	5700	PSMC1	OMIM:620071
HP:0000050	Hypoplastic male external genitalia	79228	THOC6	ORPHA:363444
HP:0000050	Hypoplastic male external genitalia	11041	B4GAT1	OMIM:615287
HP:0000050	Hypoplastic male external genitalia	3972	LHB	OMIM:228300
HP:0000050	Hypoplastic male external genitalia	59336	PRDM13	OMIM:619761
HP:0000050	Hypoplastic male external genitalia	5591	PRKDC	OMIM:615966
HP:0000050	Hypoplastic male external genitalia	6925	TCF4	OMIM:610954
HP:0000050	Hypoplastic male external genitalia	6925	TCF4	ORPHA:2896
HP:0000050	Hypoplastic male external genitalia	51085	MLXIPL	OMIM:194050
HP:0000050	Hypoplastic male external genitalia	2006	ELN	OMIM:194050
HP:0000050	Hypoplastic male external genitalia	3911	LAMA5	OMIM:620076
HP:0000050	Hypoplastic male external genitalia	2535	FZD2	OMIM:164745
HP:0000050	Hypoplastic male external genitalia	4920	ROR2	OMIM:268310
HP:0000050	Hypoplastic male external genitalia	4920	ROR2	OMIM:113000
HP:0000050	Hypoplastic male external genitalia	63895	PIEZO2	OMIM:248700
HP:0000050	Hypoplastic male external genitalia	8242	KDM5C	OMIM:300534
HP:0000050	Hypoplastic male external genitalia	55120	FANCL	OMIM:614083
HP:0000050	Hypoplastic male external genitalia	9968	MED12	OMIM:300895
HP:0000050	Hypoplastic male external genitalia	9394	HS6ST1	OMIM:614880
HP:0000050	Hypoplastic male external genitalia	9394	HS6ST1	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	9394	HS6ST1	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	10661	KLF1	OMIM:613673
HP:0000050	Hypoplastic male external genitalia	546	ATRX	OMIM:309580
HP:0000050	Hypoplastic male external genitalia	546	ATRX	OMIM:301040
HP:0000050	Hypoplastic male external genitalia	701	BUB1B	OMIM:257300
HP:0000050	Hypoplastic male external genitalia	3730	ANOS1	OMIM:308700
HP:0000050	Hypoplastic male external genitalia	3730	ANOS1	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	5781	PTPN11	OMIM:151100
HP:0000050	Hypoplastic male external genitalia	54101	RIPK4	OMIM:263650
HP:0000050	Hypoplastic male external genitalia	129880	BBS5	OMIM:615983
HP:0000050	Hypoplastic male external genitalia	27152	INTU	OMIM:617925
HP:0000050	Hypoplastic male external genitalia	27152	INTU	OMIM:617926
HP:0000050	Hypoplastic male external genitalia	5426	POLE	OMIM:618336
HP:0000050	Hypoplastic male external genitalia	7319	UBE2A	ORPHA:163956
HP:0000050	Hypoplastic male external genitalia	7319	UBE2A	OMIM:300860
HP:0000050	Hypoplastic male external genitalia	10371	SEMA3A	OMIM:614897
HP:0000050	Hypoplastic male external genitalia	10371	SEMA3A	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	10535	RNASEH2A	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	84153	RNASEH2C	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	25939	SAMHD1	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	79621	RNASEH2B	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	103	ADAR	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	11277	TREX1	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	100147744	RNU7-1	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	100147744	RNU7-1	OMIM:619487
HP:0000050	Hypoplastic male external genitalia	134353	LSM11	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	64135	IFIH1	ORPHA:51
HP:0000050	Hypoplastic male external genitalia	6792	CDKL5	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	3736	KCNA1	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	9091	PIGQ	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	2775	GNAO1	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	81603	TRIM8	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	2902	GRIN1	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	79751	SLC25A22	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	150094	SIK1	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	8573	CASK	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	23312	DMXL2	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	2917	GRM7	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	11284	PNKP	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	6326	SCN2A	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	51227	PIGP	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	6324	SCN1B	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	4761	NEUROD2	ORPHA:1934
HP:0000050	Hypoplastic male external genitalia	2260	FGFR1	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	2260	FGFR1	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	2260	FGFR1	OMIM:147950
HP:0000050	Hypoplastic male external genitalia	2260	FGFR1	OMIM:615465
HP:0000050	Hypoplastic male external genitalia	23767	FLRT3	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	79625	NDNF	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	79625	NDNF	OMIM:618841
HP:0000050	Hypoplastic male external genitalia	2253	FGF8	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	2253	FGF8	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	2253	FGF8	OMIM:612702
HP:0000050	Hypoplastic male external genitalia	1630	DCC	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	54756	IL17RD	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	6663	SOX10	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	60675	PROK2	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	60675	PROK2	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	60675	PROK2	OMIM:610628
HP:0000050	Hypoplastic male external genitalia	8820	HESX1	ORPHA:478
HP:0000050	Hypoplastic male external genitalia	10075	HUWE1	OMIM:309590
HP:0000050	Hypoplastic male external genitalia	2737	GLI3	ORPHA:672
HP:0000050	Hypoplastic male external genitalia	2737	GLI3	OMIM:146510
HP:0000050	Hypoplastic male external genitalia	2074	ERCC6	OMIM:133540
HP:0000050	Hypoplastic male external genitalia	6866	TAC3	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	3814	KISS1	ORPHA:432
HP:0000050	Hypoplastic male external genitalia	10466	COG5	ORPHA:263487
HP:0000050	Hypoplastic male external genitalia	56896	DPYSL5	OMIM:619435
HP:0000050	Hypoplastic male external genitalia	2187	FANCB	OMIM:300514
HP:0000050	Hypoplastic male external genitalia	100151683	RNU4ATAC	OMIM:210710
HP:0000050	Hypoplastic male external genitalia	54585	LZTFL1	OMIM:615994
HP:0000050	Hypoplastic male external genitalia	23314	SATB2	ORPHA:251028
HP:0000050	Hypoplastic male external genitalia	8626	TP63	OMIM:604292
HP:0000050	Hypoplastic male external genitalia	8626	TP63	OMIM:106260
HP:0000050	Hypoplastic male external genitalia	7681	MKRN3	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	3653	IPW	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	54551	MAGEL2	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	54551	MAGEL2	ORPHA:398069
HP:0000050	Hypoplastic male external genitalia	54551	MAGEL2	OMIM:615547
HP:0000050	Hypoplastic male external genitalia	791114	PWRN1	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	8924	HERC2	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	145624	PWAR1	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	23742	NPAP1	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	338433	SNORD115-1	OMIM:176270
HP:0000050	Hypoplastic male external genitalia	3981	LIG4	OMIM:606593
HP:0000050	Hypoplastic male external genitalia	55593	OTUD5	OMIM:301056
HP:0000050	Hypoplastic male external genitalia	55315	SLC29A3	OMIM:602782
HP:0000050	Hypoplastic male external genitalia	55315	SLC29A3	ORPHA:168569
HP:0000050	Hypoplastic male external genitalia	55869	HDAC8	OMIM:300882
HP:0000050	Hypoplastic male external genitalia	117581	TWIST2	OMIM:200110
HP:0000050	Hypoplastic male external genitalia	113179	ADAT3	ORPHA:363528
HP:0000050	Hypoplastic male external genitalia	8882	ZPR1	OMIM:619321
HP:0000050	Hypoplastic male external genitalia	84162	BLTP1	OMIM:617822
HP:0000050	Hypoplastic male external genitalia	6492	SIM1	ORPHA:398079
HP:0000050	Hypoplastic male external genitalia	55784	MCTP2	ORPHA:1596
HP:0000050	Hypoplastic male external genitalia	1363	CPE	OMIM:619326
HP:0000050	Hypoplastic male external genitalia	2068	ERCC2	OMIM:610756
HP:0000050	Hypoplastic male external genitalia	29925	GMPPB	ORPHA:370968
HP:0000050	Hypoplastic male external genitalia	79147	FKRP	ORPHA:370968
HP:0000050	Hypoplastic male external genitalia	29954	POMT2	ORPHA:370968
HP:0000050	Hypoplastic male external genitalia	29954	POMT2	OMIM:613156
HP:0000050	Hypoplastic male external genitalia	9215	LARGE1	ORPHA:370968
HP:0000050	Hypoplastic male external genitalia	10585	POMT1	ORPHA:370968
HP:0000050	Hypoplastic male external genitalia	55777	MBD5	OMIM:156200
HP:0000050	Hypoplastic male external genitalia	8925	HERC1	ORPHA:457359
HP:0000050	Hypoplastic male external genitalia	51132	RLIM	OMIM:300978
HP:0000050	Hypoplastic male external genitalia	4998	ORC1	OMIM:224690
HP:0000050	Hypoplastic male external genitalia	7874	USP7	OMIM:616863
HP:0000050	Hypoplastic male external genitalia	7874	USP7	ORPHA:500055
HP:0000050	Hypoplastic male external genitalia	1108	CHD4	OMIM:617159
HP:0000050	Hypoplastic male external genitalia	1000	CDH2	OMIM:618929
HP:0000050	Hypoplastic male external genitalia	80311	KLHL15	OMIM:300982
HP:0000050	Hypoplastic male external genitalia	10908	PNPLA6	OMIM:245800
HP:0000050	Hypoplastic male external genitalia	1641	DCX	OMIM:300067
HP:0000050	Hypoplastic male external genitalia	372	ARCN1	OMIM:617164
HP:0000050	Hypoplastic male external genitalia	7317	UBA1	OMIM:301830
HP:0000050	Hypoplastic male external genitalia	5277	PIGA	OMIM:300868
HP:0000050	Hypoplastic male external genitalia	128637	TBC1D20	OMIM:615663
HP:0000050	Hypoplastic male external genitalia	55210	ATAD3A	OMIM:618810
HP:0000050	Hypoplastic male external genitalia	79633	FAT4	OMIM:615546
HP:0000050	Hypoplastic male external genitalia	57187	THOC2	ORPHA:457240
HP:0000050	Hypoplastic male external genitalia	4990	SIX6	OMIM:206900
HP:0000050	Hypoplastic male external genitalia	6657	SOX2	OMIM:206900
HP:0000050	Hypoplastic male external genitalia	23594	ORC6	OMIM:613803
HP:0000050	Hypoplastic male external genitalia	990	CDC6	OMIM:613805
HP:0000050	Hypoplastic male external genitalia	60	ACTB	OMIM:243310
HP:0000050	Hypoplastic male external genitalia	26160	IFT172	OMIM:619471
HP:0000050	Hypoplastic male external genitalia	9851	KIAA0753	OMIM:619479
HP:0000050	Hypoplastic male external genitalia	2892	GRIA3	ORPHA:364028
HP:0000050	Hypoplastic male external genitalia	348180	CTU2	OMIM:618142
HP:0000050	Hypoplastic male external genitalia	340419	RSPO2	OMIM:618021
HP:0000050	Hypoplastic male external genitalia	7737	RNF113A	OMIM:300953
HP:0000050	Hypoplastic male external genitalia	6711	SPTBN1	OMIM:619475
HP:0000050	Hypoplastic male external genitalia	22931	RAB18	OMIM:614222
HP:0000050	Hypoplastic male external genitalia	95681	CEP41	OMIM:614464
HP:0000050	Hypoplastic male external genitalia	29957	SLC25A24	OMIM:612289
HP:0000050	Hypoplastic male external genitalia	4659	PPP1R12A	OMIM:618820
HP:0000050	Hypoplastic male external genitalia	6608	SMO	OMIM:241800
HP:0000050	Hypoplastic male external genitalia	80152	CENPT	OMIM:618702
HP:0000050	Hypoplastic male external genitalia	80036	TRPM3	OMIM:620224
HP:0000050	Hypoplastic male external genitalia	2132	EXT2	ORPHA:52022
HP:0000050	Hypoplastic male external genitalia	60529	ALX4	ORPHA:52022
HP:0000050	Hypoplastic male external genitalia	51317	PHF21A	ORPHA:52022
HP:0000050	Hypoplastic male external genitalia	8567	MADD	OMIM:619004
HP:0000050	Hypoplastic male external genitalia	8567	MADD	OMIM:619005
HP:0000050	Hypoplastic male external genitalia	8318	CDC45	OMIM:617063
HP:0000050	Hypoplastic male external genitalia	1857	DVL3	OMIM:616894
HP:0000050	Hypoplastic male external genitalia	202018	TAPT1	OMIM:616897
HP:0000050	Hypoplastic male external genitalia	745	MYRF	OMIM:618280
HP:0000050	Hypoplastic male external genitalia	3284	HSD3B2	OMIM:201810
HP:0000050	Hypoplastic male external genitalia	2177	FANCD2	OMIM:227646
HP:0000050	Hypoplastic male external genitalia	84295	PHF6	OMIM:301900
HP:0000050	Hypoplastic male external genitalia	4047	LSS	OMIM:618840
HP:0000050	Hypoplastic male external genitalia	23247	KATNIP	OMIM:616784
HP:0000050	Hypoplastic male external genitalia	7518	XRCC4	OMIM:616541
HP:0000050	Hypoplastic male external genitalia	9786	KIAA0586	OMIM:616546
HP:0000050	Hypoplastic male external genitalia	5718	PSMD12	OMIM:617516
HP:0000050	Hypoplastic male external genitalia	1968	EIF2S3	ORPHA:85282
HP:0000050	Hypoplastic male external genitalia	1968	EIF2S3	OMIM:300148
HP:0000050	Hypoplastic male external genitalia	6261	RYR1	ORPHA:98905
HP:0000050	Hypoplastic male external genitalia	7474	WNT5A	OMIM:180700
HP:0000050	Hypoplastic male external genitalia	9562	MINPP1	ORPHA:284339
HP:0000050	Hypoplastic male external genitalia	5087	PBX1	OMIM:617641
HP:0000050	Hypoplastic male external genitalia	523	ATP6V1A	OMIM:617403
HP:0000050	Hypoplastic male external genitalia	529	ATP6V1E1	OMIM:617402
HP:0000050	Hypoplastic male external genitalia	8085	KMT2D	OMIM:147920
HP:0000050	Hypoplastic male external genitalia	7403	KDM6A	OMIM:147920
HP:0000050	Hypoplastic male external genitalia	6658	SOX3	ORPHA:393
HP:0000050	Hypoplastic male external genitalia	6658	SOX3	ORPHA:90695
HP:0000050	Hypoplastic male external genitalia	3763	KCNJ6	ORPHA:435628
HP:0000050	Hypoplastic male external genitalia	6134	RPL10	OMIM:300998
HP:0000050	Hypoplastic male external genitalia	6134	RPL10	ORPHA:459070
HP:0000050	Hypoplastic male external genitalia	8473	OGT	OMIM:300997
HP:0000050	Hypoplastic male external genitalia	84515	MCM8	OMIM:612885
HP:0000050	Hypoplastic male external genitalia	1736	DKC1	OMIM:305000
HP:0000050	Hypoplastic male external genitalia	1131	CHRM3	ORPHA:2970
HP:0000050	Hypoplastic male external genitalia	2200	FBN1	ORPHA:284979
HP:0000050	Hypoplastic male external genitalia	7258	TSPY1	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	57055	DAZ2	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	57135	DAZ4	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	8287	USP9Y	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	5940	RBMY1A1	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	57054	DAZ3	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	8653	DDX3Y	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	1617	DAZ1	ORPHA:1646
HP:0000050	Hypoplastic male external genitalia	10084	PQBP1	ORPHA:93950
HP:0000050	Hypoplastic male external genitalia	10084	PQBP1	OMIM:309500
HP:0000050	Hypoplastic male external genitalia	9150	CTDP1	OMIM:604168
HP:0000050	Hypoplastic male external genitalia	2488	FSHB	ORPHA:52901
HP:0000050	Hypoplastic male external genitalia	2488	FSHB	OMIM:229070
HP:0000050	Hypoplastic male external genitalia	1584	CYP11B1	OMIM:202010
HP:0000050	Hypoplastic male external genitalia	201134	CEP112	OMIM:619044
HP:0000050	Hypoplastic male external genitalia	131118	DNAJC19	OMIM:610198
HP:0000050	Hypoplastic male external genitalia	140801	RPL10L	OMIM:619689
HP:0000050	Hypoplastic male external genitalia	7298	TYMS	OMIM:620040
HP:0000050	Hypoplastic male external genitalia	57697	FANCM	OMIM:618086
HP:0000050	Hypoplastic male external genitalia	57697	FANCM	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	8260	NAA10	OMIM:300855
HP:0000050	Hypoplastic male external genitalia	3973	LHCGR	OMIM:176410
HP:0000050	Hypoplastic male external genitalia	79184	BRCC3	ORPHA:280679
HP:0000050	Hypoplastic male external genitalia	284654	RSPO1	OMIM:610644
HP:0000050	Hypoplastic male external genitalia	9820	CUL7	OMIM:273750
HP:0000050	Hypoplastic male external genitalia	1583	CYP11A1	ORPHA:289548
HP:0000050	Hypoplastic male external genitalia	1583	CYP11A1	ORPHA:168558
HP:0000050	Hypoplastic male external genitalia	55630	SLC39A4	OMIM:201100
HP:0000050	Hypoplastic male external genitalia	56154	TEX15	OMIM:617960
HP:0000050	Hypoplastic male external genitalia	56154	TEX15	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	6885	MAP3K7	OMIM:157800
HP:0000050	Hypoplastic male external genitalia	3953	LEPR	ORPHA:179494
HP:0000050	Hypoplastic male external genitalia	340719	NANOS1	ORPHA:399808
HP:0000050	Hypoplastic male external genitalia	340719	NANOS1	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	5626	PROP1	ORPHA:95494
HP:0000050	Hypoplastic male external genitalia	5626	PROP1	ORPHA:90695
HP:0000050	Hypoplastic male external genitalia	89884	LHX4	ORPHA:95494
HP:0000050	Hypoplastic male external genitalia	3170	FOXA2	ORPHA:95494
HP:0000050	Hypoplastic male external genitalia	5449	POU1F1	ORPHA:95494
HP:0000050	Hypoplastic male external genitalia	26227	PHGDH	OMIM:601815
HP:0000050	Hypoplastic male external genitalia	154197	PNLDC1	OMIM:619528
HP:0000050	Hypoplastic male external genitalia	154197	PNLDC1	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	57704	GBA2	ORPHA:320391
HP:0000050	Hypoplastic male external genitalia	5422	POLA1	ORPHA:163976
HP:0000050	Hypoplastic male external genitalia	6875	TAF4B	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	56155	TEX14	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	7516	XRCC2	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	7516	XRCC2	OMIM:619145
HP:0000050	Hypoplastic male external genitalia	254528	MEIOB	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	91057	CCDC34	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	402381	SOHLH1	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	317719	KLHL10	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	56159	TEX11	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	1080	CFTR	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	84225	ZMYND15	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	122402	TDRD9	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	93426	SYCE1	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	50511	SYCP3	ORPHA:399805
HP:0000050	Hypoplastic male external genitalia	5373	PMM2	ORPHA:79318
HP:0000050	Hypoplastic male external genitalia	2332	FMR1	ORPHA:261483
HP:0000050	Hypoplastic male external genitalia	51360	MBTPS2	ORPHA:85284
HP:0000050	Hypoplastic male external genitalia	23133	PHF8	ORPHA:85287
HP:0000050	Hypoplastic male external genitalia	3339	HSPG2	OMIM:255800
HP:0000050	Hypoplastic male external genitalia	3339	HSPG2	ORPHA:800
HP:0000050	Hypoplastic male external genitalia	26123	TCTN3	ORPHA:2753
HP:0000050	Hypoplastic male external genitalia	7507	XPA	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	2071	ERCC3	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	7508	XPC	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	1643	DDB2	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	2072	ERCC4	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	2073	ERCC5	ORPHA:910
HP:0000050	Hypoplastic male external genitalia	92840	REEP6	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6094	ROM1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6017	RLBP1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	7401	CLRN1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	24	ABCA4	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	130557	ZNF513	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	92211	CDHR1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	23568	ARL2BP	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6121	RPE65	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	54806	AHI1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6101	RP1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	3419	IDH3A	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	4751	NEK2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	346007	EYS	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	8100	IFT88	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	23020	SNRNP200	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	762	CA4	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	138050	HGSNAT	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	196	AHR	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	3614	IMPDH1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	123016	TTC8	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	123016	TTC8	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	6103	RPGR	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	1406	CRX	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5148	PDE6G	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	26121	PRPF31	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	583	BBS2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	583	BBS2	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	4117	MAK	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	25794	FSCN2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	375298	CERKL	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	3420	IDH3B	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	57670	KIAA1549	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	7275	TUB	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	24148	PRPF6	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	23418	CRB1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	10461	MERTK	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	57709	SLC7A14	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	768206	PRCD	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	7399	USH2A	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	23370	ARHGEF18	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5949	RBP3	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6010	RHO	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6100	RP9	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	10002	NR2E3	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	9227	LRAT	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	84140	FAM161A	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	55812	SPATA7	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	55624	POMGNT1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	55624	POMGNT1	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	79797	ZNF408	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	403	ARL3	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5145	PDE6A	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	10210	TOPORS	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	8842	PROM1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	9128	PRPF4	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	145226	RDH12	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	50939	IMPG2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	8481	OFD1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	49855	SCAPER	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	49855	SCAPER	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	9742	IFT140	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	2979	GUCA1B	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	1259	CNGA1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	1258	CNGB1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	60509	AGBL5	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5961	PRPH2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	388939	PCARE	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	7439	BEST1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	9785	DHX38	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	7287	TULP1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5995	RGR	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	9129	PRPF3	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	55975	KLHL7	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	3617	IMPG1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	94137	RP1L1	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	5158	PDE6B	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6102	RP2	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	55857	KIZ	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	64218	SEMA4A	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	4901	NRL	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	157657	CFAP418	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	157657	CFAP418	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	10594	PRPF8	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6295	SAG	ORPHA:791
HP:0000050	Hypoplastic male external genitalia	6309	SC5D	ORPHA:46059
HP:0000050	Hypoplastic male external genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000050	Hypoplastic male external genitalia	57560	IFT80	ORPHA:93271
HP:0000050	Hypoplastic male external genitalia	57539	WDR35	ORPHA:93271
HP:0000050	Hypoplastic male external genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000050	Hypoplastic male external genitalia	129563	DIS3L2	ORPHA:2849
HP:0000050	Hypoplastic male external genitalia	84892	POMGNT2	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	148789	B3GALNT2	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	1282	COL4A1	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	729920	CRPPA	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	10329	RXYLT1	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	1605	DAG1	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	84197	POMK	ORPHA:899
HP:0000050	Hypoplastic male external genitalia	28514	DLL1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	6496	SIX3	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	7050	TGIF1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	4838	NODAL	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	6469	SHH	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	51684	SUFU	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	7546	ZIC2	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	2619	GAS1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	84976	DISP1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	8928	FOXH1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	5727	PTCH1	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	50937	CDON	ORPHA:280200
HP:0000050	Hypoplastic male external genitalia	50937	CDON	ORPHA:95496
HP:0000050	Hypoplastic male external genitalia	64359	NXN	ORPHA:1507
HP:0000050	Hypoplastic male external genitalia	3670	ISL1	ORPHA:93930
HP:0000050	Hypoplastic male external genitalia	81620	CDT1	ORPHA:2554
HP:0000050	Hypoplastic male external genitalia	5000	ORC4	ORPHA:2554
HP:0000050	Hypoplastic male external genitalia	51053	GMNN	ORPHA:2554
HP:0000050	Hypoplastic male external genitalia	23476	BRD4	ORPHA:199
HP:0000050	Hypoplastic male external genitalia	9126	SMC3	ORPHA:199
HP:0000050	Hypoplastic male external genitalia	8243	SMC1A	ORPHA:199
HP:0000050	Hypoplastic male external genitalia	5885	RAD21	ORPHA:199
HP:0000050	Hypoplastic male external genitalia	92482	BBIP1	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	80184	CEP290	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	11020	IFT27	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	4867	NPHP1	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	51057	WDPCP	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	27241	BBS9	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	84984	CEP19	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	22954	TRIM32	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	54903	MKS1	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	79738	BBS10	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	585	BBS4	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	8195	MKKS	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	55212	BBS7	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	166379	BBS12	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	10806	SDCCAG8	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	80173	IFT74	ORPHA:110
HP:0000050	Hypoplastic male external genitalia	5396	PRRX1	ORPHA:990
HP:0000050	Hypoplastic male external genitalia	5048	PAFAH1B1	ORPHA:217385
HP:0000050	Hypoplastic male external genitalia	7531	YWHAE	ORPHA:217385
HP:0000050	Hypoplastic male external genitalia	6804	STX1A	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	7461	CLIP2	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	84277	DNAJC30	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	8468	FKBP6	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	5982	RFC2	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	2969	GTF2I	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	3984	LIMK1	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	155382	VPS37D	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	155368	METTL27	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	114049	BUD23	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	7458	EIF4H	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	9275	BCL7B	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	26608	TBL2	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	653361	NCF1	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	135886	TMEM270	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	9031	BAZ1B	ORPHA:904
HP:0000050	Hypoplastic male external genitalia	5590	PRKCZ	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	2563	GABRD	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	23013	SPEN	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	8510	MMP23B	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	7798	LUZP1	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	6497	SKI	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	10630	PDPN	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	10277	UBE4B	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	8514	KCNAB2	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	473	RERE	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	63976	PRDM16	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	54897	CASZ1	ORPHA:1606
HP:0000050	Hypoplastic male external genitalia	286	ANK1	ORPHA:251066
HP:0000050	Hypoplastic male external genitalia	6091	ROBO1	ORPHA:95496
HP:0000050	Hypoplastic male external genitalia	23432	GPR161	ORPHA:95496
HP:0000050	Hypoplastic male external genitalia	3110	MNX1	ORPHA:1552
HP:0000050	Hypoplastic male external genitalia	6299	SALL1	ORPHA:857
HP:0000050	Hypoplastic male external genitalia	51339	DACT1	ORPHA:857
HP:0000050	Hypoplastic male external genitalia	2239	GPC4	ORPHA:373
HP:0000050	Hypoplastic male external genitalia	2719	GPC3	ORPHA:373
HP:0000050	Hypoplastic male external genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0000050	Hypoplastic male external genitalia	3239	HOXD13	ORPHA:887
HP:0000050	Hypoplastic male external genitalia	64324	NSD1	ORPHA:3447
HP:0000050	Hypoplastic male external genitalia	8726	EED	ORPHA:3447
HP:0000050	Hypoplastic male external genitalia	23512	SUZ12	ORPHA:3447
HP:0000050	Hypoplastic male external genitalia	2146	EZH2	ORPHA:3447
HP:0000050	Hypoplastic male external genitalia	9897	WASHC5	ORPHA:7
HP:0000050	Hypoplastic male external genitalia	28952	CCDC22	ORPHA:7
HP:0000050	Hypoplastic male external genitalia	9915	ARNT2	ORPHA:3157
HP:0000050	Hypoplastic male external genitalia	2690	GHR	ORPHA:633
HP:0000050	Hypoplastic male external genitalia	2188	FANCF	OMIM:603467
HP:0000050	Hypoplastic male external genitalia	25942	SIN3A	ORPHA:94065
HP:0000050	Hypoplastic male external genitalia	25942	SIN3A	OMIM:613406
HP:0000050	Hypoplastic male external genitalia	54809	SAMD9	OMIM:617053
HP:0000050	Hypoplastic male external genitalia	3481	IGF2	ORPHA:397590
HP:0000050	Hypoplastic male external genitalia	5324	PLAG1	ORPHA:397590
HP:0000050	Hypoplastic male external genitalia	8091	HMGA2	ORPHA:397590
HP:0000050	Hypoplastic male external genitalia	25914	RTTN	ORPHA:468631
HP:0001551	Abnormal umbilicus morphology	23394	ADNP	ORPHA:404448
HP:0001551	Abnormal umbilicus morphology	341640	FREM2	ORPHA:2052
HP:0001551	Abnormal umbilicus morphology	23426	GRIP1	ORPHA:2052
HP:0001551	Abnormal umbilicus morphology	55503	TRPV6	OMIM:618188
HP:0001551	Abnormal umbilicus morphology	8425	LTBP4	OMIM:613177
HP:0001551	Abnormal umbilicus morphology	145173	B3GLCT	ORPHA:709
HP:0001551	Abnormal umbilicus morphology	145173	B3GLCT	OMIM:261540
HP:0001551	Abnormal umbilicus morphology	1788	DNMT3A	ORPHA:404443
HP:0001551	Abnormal umbilicus morphology	1788	DNMT3A	OMIM:615879
HP:0001551	Abnormal umbilicus morphology	4758	NEU1	ORPHA:93399
HP:0001551	Abnormal umbilicus morphology	4758	NEU1	ORPHA:93400
HP:0001551	Abnormal umbilicus morphology	64324	NSD1	ORPHA:821
HP:0001551	Abnormal umbilicus morphology	29072	SETD2	ORPHA:821
HP:0001551	Abnormal umbilicus morphology	10297	APC2	ORPHA:821
HP:0001551	Abnormal umbilicus morphology	4487	MSX1	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	5818	NECTIN1	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	8626	TP63	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	8626	TP63	ORPHA:93930
HP:0001551	Abnormal umbilicus morphology	3664	IRF6	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	4125	MAN2B1	ORPHA:309282
HP:0001551	Abnormal umbilicus morphology	7849	PAX8	OMIM:218700
HP:0001551	Abnormal umbilicus morphology	7849	PAX8	ORPHA:95712
HP:0001551	Abnormal umbilicus morphology	4281	MID1	OMIM:300000
HP:0001551	Abnormal umbilicus morphology	4281	MID1	ORPHA:2745
HP:0001551	Abnormal umbilicus morphology	3481	IGF2	ORPHA:231144
HP:0001551	Abnormal umbilicus morphology	283120	H19	ORPHA:231144
HP:0001551	Abnormal umbilicus morphology	374654	KIF7	OMIM:200990
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	ORPHA:380
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	ORPHA:672
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	OMIM:175700
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	OMIM:616331
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	OMIM:180700
HP:0001551	Abnormal umbilicus morphology	64412	GZF1	OMIM:617662
HP:0001551	Abnormal umbilicus morphology	283489	CHAMP1	OMIM:616579
HP:0001551	Abnormal umbilicus morphology	72	ACTG2	ORPHA:2604
HP:0001551	Abnormal umbilicus morphology	72	ACTG2	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	23384	SPECC1L	ORPHA:1519
HP:0001551	Abnormal umbilicus morphology	3764	KCNJ8	ORPHA:1517
HP:0001551	Abnormal umbilicus morphology	10060	ABCC9	ORPHA:1517
HP:0001551	Abnormal umbilicus morphology	10060	ABCC9	OMIM:239850
HP:0001551	Abnormal umbilicus morphology	79158	GNPTAB	OMIM:252500
HP:0001551	Abnormal umbilicus morphology	79158	GNPTAB	ORPHA:576
HP:0001551	Abnormal umbilicus morphology	7253	TSHR	ORPHA:90673
HP:0001551	Abnormal umbilicus morphology	7252	TSHB	ORPHA:90674
HP:0001551	Abnormal umbilicus morphology	7252	TSHB	OMIM:275100
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	ORPHA:2963
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	ORPHA:2095
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	OMIM:612289
HP:0001551	Abnormal umbilicus morphology	1146	CHRNG	OMIM:265000
HP:0001551	Abnormal umbilicus morphology	1146	CHRNG	ORPHA:2990
HP:0001551	Abnormal umbilicus morphology	57492	ARID1B	OMIM:135900
HP:0001551	Abnormal umbilicus morphology	54453	RIN2	OMIM:613075
HP:0001551	Abnormal umbilicus morphology	54453	RIN2	ORPHA:217335
HP:0001551	Abnormal umbilicus morphology	50814	NSDHL	OMIM:308050
HP:0001551	Abnormal umbilicus morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001551	Abnormal umbilicus morphology	23545	ATP6V0A2	OMIM:278250
HP:0001551	Abnormal umbilicus morphology	4853	NOTCH2	OMIM:102500
HP:0001551	Abnormal umbilicus morphology	4853	NOTCH2	ORPHA:955
HP:0001551	Abnormal umbilicus morphology	3423	IDS	ORPHA:217085
HP:0001551	Abnormal umbilicus morphology	3423	IDS	OMIM:309900
HP:0001551	Abnormal umbilicus morphology	3423	IDS	ORPHA:217093
HP:0001551	Abnormal umbilicus morphology	9968	MED12	ORPHA:93932
HP:0001551	Abnormal umbilicus morphology	9968	MED12	OMIM:305450
HP:0001551	Abnormal umbilicus morphology	9968	MED12	OMIM:301068
HP:0001551	Abnormal umbilicus morphology	64359	NXN	ORPHA:1507
HP:0001551	Abnormal umbilicus morphology	4920	ROR2	ORPHA:1507
HP:0001551	Abnormal umbilicus morphology	4920	ROR2	OMIM:268310
HP:0001551	Abnormal umbilicus morphology	672	BRCA1	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	10459	MAD2L2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	7516	XRCC2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	29089	UBE2T	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	675	BRCA2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55120	FANCL	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2177	FANCD2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2175	FANCA	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2187	FANCB	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2176	FANCC	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2178	FANCE	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2188	FANCF	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2189	FANCG	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	5888	RAD51	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	5889	RAD51C	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55159	RFWD3	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	83990	BRIP1	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	57697	FANCM	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	79728	PALB2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	84464	SLX4	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2072	ERCC4	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55215	FANCI	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	3670	ISL1	ORPHA:93930
HP:0001551	Abnormal umbilicus morphology	6598	SMARCB1	OMIM:614608
HP:0001551	Abnormal umbilicus morphology	2697	GJA1	ORPHA:2710
HP:0001551	Abnormal umbilicus morphology	10555	AGPAT2	OMIM:608594
HP:0001551	Abnormal umbilicus morphology	1277	COL1A1	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	1289	COL5A1	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	1289	COL5A1	OMIM:130000
HP:0001551	Abnormal umbilicus morphology	1290	COL5A2	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	OMIM:188400
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	1281	COL3A1	ORPHA:286
HP:0001551	Abnormal umbilicus morphology	8726	EED	OMIM:617561
HP:0001551	Abnormal umbilicus morphology	22872	SEC31A	OMIM:618651
HP:0001551	Abnormal umbilicus morphology	54968	TMEM70	OMIM:614052
HP:0001551	Abnormal umbilicus morphology	11107	PRDM5	OMIM:614170
HP:0001551	Abnormal umbilicus morphology	26053	AUTS2	ORPHA:352490
HP:0001551	Abnormal umbilicus morphology	26053	AUTS2	OMIM:615834
HP:0001551	Abnormal umbilicus morphology	3070	HELLS	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	1789	DNMT3B	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	83879	CDCA7	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	9841	ZBTB24	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	1009	CDH11	ORPHA:1299
HP:0001551	Abnormal umbilicus morphology	1954	MEGF8	OMIM:614976
HP:0001551	Abnormal umbilicus morphology	1954	MEGF8	ORPHA:65759
HP:0001551	Abnormal umbilicus morphology	649	BMP1	OMIM:614856
HP:0001551	Abnormal umbilicus morphology	55636	CHD7	OMIM:214800
HP:0001551	Abnormal umbilicus morphology	4036	LRP2	ORPHA:2143
HP:0001551	Abnormal umbilicus morphology	4036	LRP2	OMIM:222448
HP:0001551	Abnormal umbilicus morphology	3425	IDUA	OMIM:607014
HP:0001551	Abnormal umbilicus morphology	3425	IDUA	OMIM:607015
HP:0001551	Abnormal umbilicus morphology	175	AGA	ORPHA:93
HP:0001551	Abnormal umbilicus morphology	165	AEBP1	ORPHA:536532
HP:0001551	Abnormal umbilicus morphology	165	AEBP1	OMIM:618000
HP:0001551	Abnormal umbilicus morphology	1947	EFNB1	OMIM:304110
HP:0001551	Abnormal umbilicus morphology	1836	SLC26A2	OMIM:600972
HP:0001551	Abnormal umbilicus morphology	1836	SLC26A2	ORPHA:93298
HP:0001551	Abnormal umbilicus morphology	4952	OCRL	OMIM:300555
HP:0001551	Abnormal umbilicus morphology	4952	OCRL	ORPHA:534
HP:0001551	Abnormal umbilicus morphology	23512	SUZ12	OMIM:618786
HP:0001551	Abnormal umbilicus morphology	54914	FOCAD	OMIM:619991
HP:0001551	Abnormal umbilicus morphology	5626	PROP1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	89884	LHX4	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	8022	LHX3	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	5449	POU1F1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	8820	HESX1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	1857	DVL3	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	7474	WNT5A	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	7474	WNT5A	OMIM:180700
HP:0001551	Abnormal umbilicus morphology	2535	FZD2	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	2627	GATA6	ORPHA:2255
HP:0001551	Abnormal umbilicus morphology	2627	GATA6	OMIM:600001
HP:0001551	Abnormal umbilicus morphology	6804	STX1A	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	7461	CLIP2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	84277	DNAJC30	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	8468	FKBP6	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	5982	RFC2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2969	GTF2I	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	3984	LIMK1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	9569	GTF2IRD1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	155382	VPS37D	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	155368	METTL27	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	114049	BUD23	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	7458	EIF4H	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	84163	GTF2IRD2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	9275	BCL7B	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	26608	TBL2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	653361	NCF1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	135886	TMEM270	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	51085	MLXIPL	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	51085	MLXIPL	OMIM:194050
HP:0001551	Abnormal umbilicus morphology	9031	BAZ1B	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2006	ELN	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2006	ELN	OMIM:194050
HP:0001551	Abnormal umbilicus morphology	79753	SNIP1	OMIM:614501
HP:0001551	Abnormal umbilicus morphology	5593	PRKG2	OMIM:619636
HP:0001551	Abnormal umbilicus morphology	8364	H4C3	OMIM:619758
HP:0001551	Abnormal umbilicus morphology	8517	IKBKG	ORPHA:464
HP:0001551	Abnormal umbilicus morphology	2990	GUSB	ORPHA:584
HP:0001551	Abnormal umbilicus morphology	2990	GUSB	OMIM:253220
HP:0001551	Abnormal umbilicus morphology	2200	FBN1	OMIM:608328
HP:0001551	Abnormal umbilicus morphology	2200	FBN1	ORPHA:2462
HP:0001551	Abnormal umbilicus morphology	715	C1R	OMIM:130080
HP:0001551	Abnormal umbilicus morphology	79813	EHMT1	ORPHA:261652
HP:0001551	Abnormal umbilicus morphology	58508	KMT2C	ORPHA:261652
HP:0001551	Abnormal umbilicus morphology	50506	DUOX2	ORPHA:226316
HP:0001551	Abnormal umbilicus morphology	50506	DUOX2	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	9993	DGCR2	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	8220	ESS2	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	8214	DGCR6	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	54487	DGCR8	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	25802	LMOD1	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	4629	MYH11	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	4638	MYLK	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	51341	ZBTB7A	OMIM:619769
HP:0001551	Abnormal umbilicus morphology	5832	ALDH18A1	OMIM:219150
HP:0001551	Abnormal umbilicus morphology	2316	FLNA	OMIM:304120
HP:0001551	Abnormal umbilicus morphology	2316	FLNA	ORPHA:75497
HP:0001551	Abnormal umbilicus morphology	55343	SLC35C1	ORPHA:99843
HP:0001551	Abnormal umbilicus morphology	7030	TFE3	OMIM:301066
HP:0001551	Abnormal umbilicus morphology	2239	GPC4	ORPHA:373
HP:0001551	Abnormal umbilicus morphology	2239	GPC4	OMIM:312870
HP:0001551	Abnormal umbilicus morphology	2719	GPC3	ORPHA:373
HP:0001551	Abnormal umbilicus morphology	2719	GPC3	OMIM:312870
HP:0001551	Abnormal umbilicus morphology	81031	SLC2A10	OMIM:208050
HP:0001551	Abnormal umbilicus morphology	284098	PIGW	OMIM:616025
HP:0001551	Abnormal umbilicus morphology	259232	NALCN	OMIM:616266
HP:0001551	Abnormal umbilicus morphology	23483	TGDS	OMIM:616145
HP:0001551	Abnormal umbilicus morphology	285203	EOGT	OMIM:615297
HP:0001551	Abnormal umbilicus morphology	57479	PRR12	OMIM:619539
HP:0001551	Abnormal umbilicus morphology	4851	NOTCH1	OMIM:616028
HP:0001551	Abnormal umbilicus morphology	84168	ANTXR1	OMIM:230740
HP:0001551	Abnormal umbilicus morphology	84168	ANTXR1	ORPHA:2067
HP:0001551	Abnormal umbilicus morphology	64919	BCL11B	OMIM:617237
HP:0001551	Abnormal umbilicus morphology	4088	SMAD3	OMIM:613795
HP:0001551	Abnormal umbilicus morphology	4088	SMAD3	ORPHA:284984
HP:0001551	Abnormal umbilicus morphology	3930	LBR	OMIM:169400
HP:0001551	Abnormal umbilicus morphology	2146	EZH2	OMIM:277590
HP:0001551	Abnormal umbilicus morphology	7048	TGFBR2	OMIM:610168
HP:0001551	Abnormal umbilicus morphology	1107	CHD3	OMIM:618205
HP:0001551	Abnormal umbilicus morphology	9321	TRIP11	ORPHA:93299
HP:0001551	Abnormal umbilicus morphology	404672	GTF2H5	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	833	CARS1	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2068	ERCC2	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	7737	RNF113A	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	136647	MPLKIP	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	6897	TARS1	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2071	ERCC3	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2961	GTF2E2	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	3339	HSPG2	OMIM:255800
HP:0001551	Abnormal umbilicus morphology	3339	HSPG2	ORPHA:800
HP:0001551	Abnormal umbilicus morphology	147372	CCBE1	OMIM:235510
HP:0001551	Abnormal umbilicus morphology	6528	SLC5A5	OMIM:274400
HP:0001551	Abnormal umbilicus morphology	6528	SLC5A5	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	117581	TWIST2	ORPHA:920
HP:0001551	Abnormal umbilicus morphology	6595	SMARCA2	OMIM:601358
HP:0001551	Abnormal umbilicus morphology	1387	CREBBP	OMIM:618332
HP:0001551	Abnormal umbilicus morphology	8295	TRRAP	OMIM:618454
HP:0001551	Abnormal umbilicus morphology	9742	IFT140	OMIM:266920
HP:0001551	Abnormal umbilicus morphology	55690	PACS1	ORPHA:329224
HP:0001551	Abnormal umbilicus morphology	51053	GMNN	OMIM:616835
HP:0001551	Abnormal umbilicus morphology	2245	FGD1	ORPHA:915
HP:0001551	Abnormal umbilicus morphology	6497	SKI	ORPHA:2462
HP:0001551	Abnormal umbilicus morphology	6497	SKI	OMIM:182212
HP:0001551	Abnormal umbilicus morphology	90417	KNSTRN	OMIM:613328
HP:0001551	Abnormal umbilicus morphology	90417	KNSTRN	ORPHA:221139
HP:0001551	Abnormal umbilicus morphology	5293	PIK3CD	OMIM:613328
HP:0001551	Abnormal umbilicus morphology	5293	PIK3CD	ORPHA:221139
HP:0001551	Abnormal umbilicus morphology	6792	CDKL5	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	3736	KCNA1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	9091	PIGQ	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2775	GNAO1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	81603	TRIM8	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2902	GRIN1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	79751	SLC25A22	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	150094	SIK1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	8573	CASK	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	23312	DMXL2	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2917	GRM7	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	170302	ARX	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	11284	PNKP	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	6326	SCN2A	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	51227	PIGP	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	6324	SCN1B	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	4761	NEUROD2	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	6448	SGSH	OMIM:252900
HP:0001551	Abnormal umbilicus morphology	388015	RTL1	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	388015	RTL1	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	8788	DLK1	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	8788	DLK1	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	55384	MEG3	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	55384	MEG3	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	9759	HDAC4	ORPHA:1001
HP:0001551	Abnormal umbilicus morphology	546	ATRX	OMIM:301040
HP:0001551	Abnormal umbilicus morphology	411	ARSB	OMIM:253200
HP:0001551	Abnormal umbilicus morphology	6299	SALL1	OMIM:107480
HP:0001551	Abnormal umbilicus morphology	10847	SRCAP	OMIM:136140
HP:0001551	Abnormal umbilicus morphology	5515	PPP2CA	OMIM:618354
HP:0001551	Abnormal umbilicus morphology	4854	NOTCH3	OMIM:130720
HP:0001551	Abnormal umbilicus morphology	4854	NOTCH3	ORPHA:2789
HP:0001551	Abnormal umbilicus morphology	23291	FBXW11	OMIM:618914
HP:0001551	Abnormal umbilicus morphology	169792	GLIS3	OMIM:610199
HP:0001551	Abnormal umbilicus morphology	3097	HIVEP2	OMIM:616977
HP:0001551	Abnormal umbilicus morphology	55033	FKBP14	OMIM:614557
HP:0001551	Abnormal umbilicus morphology	3767	KCNJ11	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	346171	ZFP57	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	57061	HYMAI	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	57061	HYMAI	ORPHA:96191
HP:0001551	Abnormal umbilicus morphology	6833	ABCC8	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	5325	PLAGL1	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	5325	PLAGL1	ORPHA:96191
HP:0001551	Abnormal umbilicus morphology	79068	FTO	OMIM:612938
HP:0001551	Abnormal umbilicus morphology	4784	NFIX	OMIM:602535
HP:0001551	Abnormal umbilicus morphology	3756	KCNH1	OMIM:135500
HP:0001551	Abnormal umbilicus morphology	8260	NAA10	OMIM:300855
HP:0001551	Abnormal umbilicus morphology	85358	SHANK3	ORPHA:48652
HP:0001551	Abnormal umbilicus morphology	10082	GPC6	OMIM:258315
HP:0001551	Abnormal umbilicus morphology	405753	DUOXA2	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	7038	TG	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	7173	TPO	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	389434	IYD	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	55603	TENT5A	OMIM:617952
HP:0001551	Abnormal umbilicus morphology	134701	RIPPLY2	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	10683	DLL3	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	3955	LFNG	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	84667	HES7	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	145873	MESP2	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	2019	EN1	OMIM:619218
HP:0001551	Abnormal umbilicus morphology	23389	MED13L	ORPHA:369891
HP:0001551	Abnormal umbilicus morphology	5351	PLOD1	ORPHA:1900
HP:0001551	Abnormal umbilicus morphology	1312	COMT	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	221037	JMJD1C	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	2812	GP1BB	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	6239	RREB1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	7290	HIRA	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	9632	SEC24C	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	7353	UFD1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	421	ARVCF	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	1482	NKX2-5	ORPHA:95712
HP:0001551	Abnormal umbilicus morphology	538	ATP7A	ORPHA:565
HP:0001551	Abnormal umbilicus morphology	6045	RNF2	OMIM:619460
HP:0001551	Abnormal umbilicus morphology	1280	COL2A1	OMIM:156550
HP:0001551	Abnormal umbilicus morphology	2743	GLRB	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	2741	GLRA1	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	2741	GLRA1	OMIM:149400
HP:0001551	Abnormal umbilicus morphology	10243	GPHN	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	10243	GPHN	OMIM:149400
HP:0001551	Abnormal umbilicus morphology	84896	ATAD1	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	84896	ATAD1	OMIM:618011
HP:0001551	Abnormal umbilicus morphology	9152	SLC6A5	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	9509	ADAMTS2	OMIM:225410
HP:0001551	Abnormal umbilicus morphology	633	BGN	OMIM:300989
HP:0001551	Abnormal umbilicus morphology	2475	MTOR	OMIM:616638
HP:0001551	Abnormal umbilicus morphology	51715	RAB23	ORPHA:65759
HP:0001551	Abnormal umbilicus morphology	51715	RAB23	OMIM:201000
HP:0001551	Abnormal umbilicus morphology	26227	PHGDH	ORPHA:79351
HP:0001551	Abnormal umbilicus morphology	26040	SETBP1	ORPHA:798
HP:0001551	Abnormal umbilicus morphology	64840	PORCN	OMIM:305600
HP:0001551	Abnormal umbilicus morphology	64840	PORCN	ORPHA:2092
HP:0001551	Abnormal umbilicus morphology	84265	POLR3GL	OMIM:619234
HP:0001551	Abnormal umbilicus morphology	716	C1S	OMIM:617174
HP:0001551	Abnormal umbilicus morphology	10526	IPO8	OMIM:619472
HP:0001551	Abnormal umbilicus morphology	26580	BSCL2	OMIM:269700
HP:0001551	Abnormal umbilicus morphology	94005	PIGS	OMIM:618143
HP:0001551	Abnormal umbilicus morphology	1861	TOR1A	OMIM:618947
HP:0001551	Abnormal umbilicus morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001551	Abnormal umbilicus morphology	23405	DICER1	OMIM:618272
HP:0001551	Abnormal umbilicus morphology	113189	CHST14	OMIM:601776
HP:0001551	Abnormal umbilicus morphology	51360	MBTPS2	OMIM:308205
HP:0001551	Abnormal umbilicus morphology	1457	CSNK2A1	OMIM:617062
HP:0001551	Abnormal umbilicus morphology	54880	BCOR	OMIM:300166
HP:0001551	Abnormal umbilicus morphology	2263	FGFR2	ORPHA:1555
HP:0001551	Abnormal umbilicus morphology	100506658	OCLN	OMIM:251290
HP:0001551	Abnormal umbilicus morphology	23169	SLC35D1	OMIM:269250
HP:0001551	Abnormal umbilicus morphology	149461	CLDN19	ORPHA:2196
HP:0001551	Abnormal umbilicus morphology	5879	RAC1	OMIM:617751
HP:0001551	Abnormal umbilicus morphology	5879	RAC1	ORPHA:500159
HP:0001551	Abnormal umbilicus morphology	84231	TRAF7	OMIM:618164
HP:0001551	Abnormal umbilicus morphology	51780	KDM3B	OMIM:618846
HP:0001551	Abnormal umbilicus morphology	9487	PIGL	OMIM:280000
HP:0001551	Abnormal umbilicus morphology	10584	COLEC10	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	5648	MASP1	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	78989	COLEC11	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	63916	ELMO2	OMIM:606893
HP:0001551	Abnormal umbilicus morphology	4621	MYH3	ORPHA:2990
HP:0001551	Abnormal umbilicus morphology	10516	FBLN5	OMIM:219100
HP:0001551	Abnormal umbilicus morphology	5727	PTCH1	ORPHA:77301
HP:0001551	Abnormal umbilicus morphology	55553	SOX6	OMIM:618971
HP:0001551	Abnormal umbilicus morphology	203068	TUBB	ORPHA:2505
HP:0001551	Abnormal umbilicus morphology	10982	MAPRE2	ORPHA:2505
HP:0001551	Abnormal umbilicus morphology	7994	KAT6A	OMIM:616268
HP:0001551	Abnormal umbilicus morphology	4000	LMNA	ORPHA:740
HP:0001551	Abnormal umbilicus morphology	10269	ZMPSTE24	ORPHA:740
HP:0001551	Abnormal umbilicus morphology	284119	CAVIN1	OMIM:613327
HP:0001551	Abnormal umbilicus morphology	25836	NIPBL	OMIM:122470
HP:0001551	Abnormal umbilicus morphology	80144	FRAS1	OMIM:219000
HP:0001551	Abnormal umbilicus morphology	3848	KRT1	ORPHA:530838
HP:0001551	Abnormal umbilicus morphology	54101	RIPK4	OMIM:263650
HP:0001552	Barrel-shaped chest	54808	DYM	OMIM:223800
HP:0001552	Barrel-shaped chest	54808	DYM	OMIM:607326
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:271700
HP:0001552	Barrel-shaped chest	1280	COL2A1	ORPHA:94068
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:200610
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:183900
HP:0001552	Barrel-shaped chest	3930	LBR	OMIM:215140
HP:0001552	Barrel-shaped chest	9321	TRIP11	OMIM:200600
HP:0001552	Barrel-shaped chest	6399	TRAPPC2	ORPHA:93284
HP:0001552	Barrel-shaped chest	6399	TRAPPC2	OMIM:313400
HP:0001552	Barrel-shaped chest	4621	MYH3	OMIM:178110
HP:0001552	Barrel-shaped chest	65082	VPS33A	ORPHA:505248
HP:0001552	Barrel-shaped chest	54	ACP5	OMIM:607944
HP:0001552	Barrel-shaped chest	9469	CHST3	ORPHA:263463
HP:0001552	Barrel-shaped chest	9469	CHST3	OMIM:143095
HP:0001552	Barrel-shaped chest	11014	KDELR2	OMIM:619131
HP:0001552	Barrel-shaped chest	2517	FUCA1	OMIM:230000
HP:0001552	Barrel-shaped chest	1305	COL13A1	OMIM:616720
HP:0001552	Barrel-shaped chest	7476	WNT7A	OMIM:276820
HP:0001552	Barrel-shaped chest	59341	TRPV4	OMIM:113500
HP:0001552	Barrel-shaped chest	4982	TNFRSF11B	OMIM:239000
HP:0001552	Barrel-shaped chest	9451	EIF2AK3	OMIM:226980
HP:0001552	Barrel-shaped chest	83452	RAB33B	OMIM:615222
HP:0001552	Barrel-shaped chest	22858	CILK1	OMIM:612651
HP:0001552	Barrel-shaped chest	6023	RMRP	OMIM:607095
HP:0001552	Barrel-shaped chest	176	ACAN	ORPHA:171866
HP:0001552	Barrel-shaped chest	176	ACAN	OMIM:612813
HP:0001552	Barrel-shaped chest	4041	LRP5	OMIM:259770
HP:0001552	Barrel-shaped chest	3265	HRAS	OMIM:218040
HP:0001552	Barrel-shaped chest	64175	P3H1	OMIM:610915
HP:0001555	Asymmetry of the thorax	6023	RMRP	OMIM:250250
HP:0001555	Asymmetry of the thorax	23184	MESD	OMIM:618644
HP:0001555	Asymmetry of the thorax	84168	ANTXR1	ORPHA:2067
HP:0001555	Asymmetry of the thorax	8925	HERC1	ORPHA:457359
HP:0001555	Asymmetry of the thorax	139285	AMER1	ORPHA:2780
HP:0001555	Asymmetry of the thorax	9578	CDC42BPB	OMIM:619841
HP:0001555	Asymmetry of the thorax	5728	PTEN	ORPHA:744
HP:0001555	Asymmetry of the thorax	207	AKT1	ORPHA:744
HP:0001555	Asymmetry of the thorax	3481	IGF2	ORPHA:2128
HP:0001555	Asymmetry of the thorax	10984	KCNQ1OT1	ORPHA:2128
HP:0001555	Asymmetry of the thorax	283120	H19	ORPHA:2128
HP:0001557	Prenatal movement abnormality	501	ALDH7A1	OMIM:266100
HP:0001557	Prenatal movement abnormality	501	ALDH7A1	ORPHA:3006
HP:0001557	Prenatal movement abnormality	23476	BRD4	ORPHA:199
HP:0001557	Prenatal movement abnormality	9126	SMC3	ORPHA:199
HP:0001557	Prenatal movement abnormality	8243	SMC1A	ORPHA:199
HP:0001557	Prenatal movement abnormality	25836	NIPBL	ORPHA:199
HP:0001557	Prenatal movement abnormality	55869	HDAC8	ORPHA:199
HP:0001557	Prenatal movement abnormality	5885	RAD21	ORPHA:199
HP:0001557	Prenatal movement abnormality	259232	NALCN	ORPHA:2053
HP:0001557	Prenatal movement abnormality	3339	HSPG2	ORPHA:800
HP:0001557	Prenatal movement abnormality	11212	PLPBP	ORPHA:3006
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:97240
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:171433
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:171430
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:2020
HP:0001557	Prenatal movement abnormality	58	ACTA1	OMIM:161800
HP:0001557	Prenatal movement abnormality	2261	FGFR3	OMIM:187601
HP:0001557	Prenatal movement abnormality	2261	FGFR3	OMIM:187600
HP:0001557	Prenatal movement abnormality	4359	MPZ	OMIM:618184
HP:0001557	Prenatal movement abnormality	2673	GFPT1	OMIM:608931
HP:0001557	Prenatal movement abnormality	1145	CHRNE	OMIM:608931
HP:0001557	Prenatal movement abnormality	27238	GPKOW	ORPHA:2570
HP:0001557	Prenatal movement abnormality	199857	ALG14	OMIM:619036
HP:0001557	Prenatal movement abnormality	29925	GMPPB	OMIM:615350
HP:0001557	Prenatal movement abnormality	29925	GMPPB	OMIM:615351
HP:0001557	Prenatal movement abnormality	5351	PLOD1	OMIM:225400
HP:0001557	Prenatal movement abnormality	56896	DPYSL5	OMIM:619435
HP:0001557	Prenatal movement abnormality	1144	CHRND	OMIM:616322
HP:0001557	Prenatal movement abnormality	8506	CNTNAP1	OMIM:618186
HP:0001557	Prenatal movement abnormality	8506	CNTNAP1	OMIM:616286
HP:0001557	Prenatal movement abnormality	5393	EXOSC9	OMIM:618065
HP:0001557	Prenatal movement abnormality	112	ADCY6	OMIM:616287
HP:0001557	Prenatal movement abnormality	4000	LMNA	OMIM:619793
HP:0001557	Prenatal movement abnormality	4000	LMNA	ORPHA:157973
HP:0001557	Prenatal movement abnormality	4000	LMNA	ORPHA:1662
HP:0001557	Prenatal movement abnormality	4000	LMNA	OMIM:613205
HP:0001557	Prenatal movement abnormality	23345	SYNE1	ORPHA:88644
HP:0001557	Prenatal movement abnormality	23345	SYNE1	OMIM:618484
HP:0001557	Prenatal movement abnormality	23345	SYNE1	ORPHA:319332
HP:0001557	Prenatal movement abnormality	56203	LMOD3	OMIM:616165
HP:0001557	Prenatal movement abnormality	56203	LMOD3	ORPHA:171430
HP:0001557	Prenatal movement abnormality	5913	RAPSN	OMIM:616326
HP:0001557	Prenatal movement abnormality	5913	RAPSN	OMIM:618388
HP:0001557	Prenatal movement abnormality	2632	GBE1	OMIM:232500
HP:0001557	Prenatal movement abnormality	51126	NAA20	OMIM:619717
HP:0001557	Prenatal movement abnormality	10059	DNM1L	OMIM:614388
HP:0001557	Prenatal movement abnormality	1355	COX15	OMIM:615119
HP:0001557	Prenatal movement abnormality	145173	B3GLCT	ORPHA:709
HP:0001557	Prenatal movement abnormality	79796	ALG9	OMIM:608776
HP:0001557	Prenatal movement abnormality	79796	ALG9	ORPHA:79328
HP:0001557	Prenatal movement abnormality	4703	NEB	OMIM:256030
HP:0001557	Prenatal movement abnormality	4703	NEB	ORPHA:171433
HP:0001557	Prenatal movement abnormality	4703	NEB	ORPHA:171430
HP:0001557	Prenatal movement abnormality	4703	NEB	OMIM:619334
HP:0001557	Prenatal movement abnormality	10102	TSFM	OMIM:610505
HP:0001557	Prenatal movement abnormality	274	BIN1	ORPHA:169189
HP:0001557	Prenatal movement abnormality	274	BIN1	OMIM:255200
HP:0001557	Prenatal movement abnormality	64419	MTMR14	ORPHA:169189
HP:0001557	Prenatal movement abnormality	4618	MYF6	ORPHA:169189
HP:0001557	Prenatal movement abnormality	1785	DNM2	ORPHA:169189
HP:0001557	Prenatal movement abnormality	1785	DNM2	OMIM:615368
HP:0001557	Prenatal movement abnormality	6261	RYR1	ORPHA:169189
HP:0001557	Prenatal movement abnormality	6261	RYR1	OMIM:255320
HP:0001557	Prenatal movement abnormality	6261	RYR1	ORPHA:98905
HP:0001557	Prenatal movement abnormality	6261	RYR1	OMIM:619542
HP:0001557	Prenatal movement abnormality	2629	GBA1	OMIM:608013
HP:0001557	Prenatal movement abnormality	2629	GBA1	ORPHA:85212
HP:0001557	Prenatal movement abnormality	7681	MKRN3	OMIM:176270
HP:0001557	Prenatal movement abnormality	3653	IPW	OMIM:176270
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	OMIM:176270
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177904
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177901
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:398069
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177910
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	OMIM:615547
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:98754
HP:0001557	Prenatal movement abnormality	791114	PWRN1	OMIM:176270
HP:0001557	Prenatal movement abnormality	100033413	SNORD116-1	OMIM:176270
HP:0001557	Prenatal movement abnormality	8924	HERC2	OMIM:176270
HP:0001557	Prenatal movement abnormality	145624	PWAR1	OMIM:176270
HP:0001557	Prenatal movement abnormality	23742	NPAP1	OMIM:176270
HP:0001557	Prenatal movement abnormality	338433	SNORD115-1	OMIM:176270
HP:0001557	Prenatal movement abnormality	1303	COL12A1	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1291	COL6A1	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1291	COL6A1	OMIM:158810
HP:0001557	Prenatal movement abnormality	1292	COL6A2	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1292	COL6A2	OMIM:158810
HP:0001557	Prenatal movement abnormality	1293	COL6A3	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1293	COL6A3	OMIM:158810
HP:0001557	Prenatal movement abnormality	59341	TRPV4	OMIM:156530
HP:0001557	Prenatal movement abnormality	59341	TRPV4	OMIM:600175
HP:0001557	Prenatal movement abnormality	3481	IGF2	ORPHA:231144
HP:0001557	Prenatal movement abnormality	283120	H19	ORPHA:231144
HP:0001557	Prenatal movement abnormality	2073	ERCC5	OMIM:616570
HP:0001557	Prenatal movement abnormality	23114	NFASC	OMIM:618356
HP:0001557	Prenatal movement abnormality	9578	CDC42BPB	OMIM:619841
HP:0001557	Prenatal movement abnormality	10324	KLHL41	ORPHA:171433
HP:0001557	Prenatal movement abnormality	10324	KLHL41	ORPHA:171430
HP:0001557	Prenatal movement abnormality	7170	TPM3	ORPHA:171433
HP:0001557	Prenatal movement abnormality	7170	TPM3	ORPHA:2020
HP:0001557	Prenatal movement abnormality	7170	TPM3	OMIM:255310
HP:0001557	Prenatal movement abnormality	131377	KLHL40	ORPHA:171430
HP:0001557	Prenatal movement abnormality	131377	KLHL40	OMIM:615348
HP:0001557	Prenatal movement abnormality	4649	MYO9A	OMIM:618198
HP:0001557	Prenatal movement abnormality	4649	MYO9A	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6616	SNAP25	OMIM:616330
HP:0001557	Prenatal movement abnormality	6616	SNAP25	ORPHA:98914
HP:0001557	Prenatal movement abnormality	84466	MEGF10	OMIM:614399
HP:0001557	Prenatal movement abnormality	1763	DNA2	ORPHA:352470
HP:0001557	Prenatal movement abnormality	2314	FLII	ORPHA:819
HP:0001557	Prenatal movement abnormality	23096	IQSEC2	ORPHA:819
HP:0001557	Prenatal movement abnormality	10743	RAI1	ORPHA:819
HP:0001557	Prenatal movement abnormality	10522	DEAF1	ORPHA:819
HP:0001557	Prenatal movement abnormality	55033	FKBP14	OMIM:614557
HP:0001557	Prenatal movement abnormality	9200	HACD1	OMIM:619967
HP:0001557	Prenatal movement abnormality	9200	HACD1	ORPHA:2020
HP:0001557	Prenatal movement abnormality	3508	IGHMBP2	OMIM:604320
HP:0001557	Prenatal movement abnormality	5979	RET	ORPHA:99803
HP:0001557	Prenatal movement abnormality	429	ASCL1	ORPHA:99803
HP:0001557	Prenatal movement abnormality	8929	PHOX2B	ORPHA:99803
HP:0001557	Prenatal movement abnormality	1760	DMPK	OMIM:160900
HP:0001557	Prenatal movement abnormality	1760	DMPK	ORPHA:589821
HP:0001557	Prenatal movement abnormality	7125	TNNC2	OMIM:620161
HP:0001557	Prenatal movement abnormality	284403	WDR62	OMIM:604317
HP:0001557	Prenatal movement abnormality	1146	CHRNG	OMIM:265000
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177904
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177901
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177910
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:98754
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177904
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177901
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177910
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:98754
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:177904
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:177901
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:98754
HP:0001557	Prenatal movement abnormality	4621	MYH3	OMIM:193700
HP:0001557	Prenatal movement abnormality	64324	NSD1	OMIM:117550
HP:0001557	Prenatal movement abnormality	55906	ZC4H2	OMIM:314580
HP:0001557	Prenatal movement abnormality	8260	NAA10	OMIM:300855
HP:0001557	Prenatal movement abnormality	146862	UNC45B	OMIM:619178
HP:0001557	Prenatal movement abnormality	1272	CNTN1	OMIM:612540
HP:0001557	Prenatal movement abnormality	23511	NUP188	OMIM:618804
HP:0001557	Prenatal movement abnormality	1147	CHUK	OMIM:613630
HP:0001557	Prenatal movement abnormality	27315	PGAP2	OMIM:614207
HP:0001557	Prenatal movement abnormality	55681	SCYL2	OMIM:618766
HP:0001557	Prenatal movement abnormality	55681	SCYL2	ORPHA:1143
HP:0001557	Prenatal movement abnormality	93627	TBCK	OMIM:616900
HP:0001557	Prenatal movement abnormality	51008	ASCC1	OMIM:616867
HP:0001557	Prenatal movement abnormality	57211	ADGRG6	OMIM:616503
HP:0001557	Prenatal movement abnormality	9325	TRIP4	OMIM:616866
HP:0001557	Prenatal movement abnormality	9570	GOSR2	OMIM:620166
HP:0001557	Prenatal movement abnormality	6606	SMN1	OMIM:253300
HP:0001557	Prenatal movement abnormality	1717	DHCR7	OMIM:270400
HP:0001557	Prenatal movement abnormality	10815	CPLX1	ORPHA:280
HP:0001557	Prenatal movement abnormality	10815	CPLX1	OMIM:194190
HP:0001557	Prenatal movement abnormality	54872	PIGG	ORPHA:280
HP:0001557	Prenatal movement abnormality	7469	NELFA	ORPHA:280
HP:0001557	Prenatal movement abnormality	1487	CTBP1	ORPHA:280
HP:0001557	Prenatal movement abnormality	1487	CTBP1	OMIM:194190
HP:0001557	Prenatal movement abnormality	3954	LETM1	ORPHA:280
HP:0001557	Prenatal movement abnormality	3954	LETM1	OMIM:194190
HP:0001557	Prenatal movement abnormality	7468	NSD2	ORPHA:280
HP:0001557	Prenatal movement abnormality	7468	NSD2	OMIM:194190
HP:0001557	Prenatal movement abnormality	57190	SELENON	ORPHA:2020
HP:0001557	Prenatal movement abnormality	4633	MYL2	ORPHA:2020
HP:0001557	Prenatal movement abnormality	3679	ITGA7	ORPHA:2020
HP:0001557	Prenatal movement abnormality	7169	TPM2	ORPHA:2020
HP:0001557	Prenatal movement abnormality	51776	MAP3K20	ORPHA:2020
HP:0001557	Prenatal movement abnormality	51651	PTRH2	ORPHA:456312
HP:0001557	Prenatal movement abnormality	51651	PTRH2	OMIM:616263
HP:0001557	Prenatal movement abnormality	2906	GRIN2D	OMIM:617162
HP:0001557	Prenatal movement abnormality	2906	GRIN2D	ORPHA:442835
HP:0001557	Prenatal movement abnormality	7317	UBA1	OMIM:301830
HP:0001557	Prenatal movement abnormality	127833	SYT2	OMIM:619461
HP:0001557	Prenatal movement abnormality	127833	SYT2	ORPHA:98914
HP:0001557	Prenatal movement abnormality	3560	IL2RB	OMIM:618495
HP:0001557	Prenatal movement abnormality	6885	MAP3K7	OMIM:157800
HP:0001557	Prenatal movement abnormality	4613	MYCN	OMIM:164280
HP:0001557	Prenatal movement abnormality	2783	GNB2	OMIM:619503
HP:0001557	Prenatal movement abnormality	4632	MYL1	OMIM:618414
HP:0001557	Prenatal movement abnormality	3737	KCNA2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1759	DNM1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8120	AP3B2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	523	ATP6V1A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	10991	SLC38A3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	51343	FZR1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	22906	TRAK1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2566	GABRG2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1917	EEF1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2561	GABRB2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8831	SYNGAP1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	7532	YWHAG	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79876	UBA5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6328	SCN3A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2558	GABRA5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	781	CACNA2D1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	116150	NUS1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	10659	CELF2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	774	CACNA1B	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1213	CLTC	ORPHA:442835
HP:0001557	Prenatal movement abnormality	51741	WWOX	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23334	SZT2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	51412	ACTL6B	ORPHA:442835
HP:0001557	Prenatal movement abnormality	348980	HCN1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6506	SLC1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8867	SYNJ1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2258	FGF13	ORPHA:442835
HP:0001557	Prenatal movement abnormality	477	ATP1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	3745	KCNB1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	284111	SLC13A5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25977	NECAP1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25977	NECAP1	OMIM:615833
HP:0001557	Prenatal movement abnormality	16	AARS1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6334	SCN8A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	22866	CNKSR2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	9568	GABBR2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2555	GABRA2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	55152	DALRD3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	773	CACNA1A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	26999	CYFIP2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	4915	NTRK2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25973	PARS2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23097	CDK19	ORPHA:442835
HP:0001557	Prenatal movement abnormality	64801	ARV1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79947	DHDDS	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2257	FGF12	ORPHA:442835
HP:0001557	Prenatal movement abnormality	5530	PPP3CA	ORPHA:442835
HP:0001557	Prenatal movement abnormality	478	ATP1A3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79053	ALG8	OMIM:608104
HP:0001557	Prenatal movement abnormality	53834	FGFRL1	OMIM:194190
HP:0001557	Prenatal movement abnormality	57572	DOCK6	OMIM:614219
HP:0001557	Prenatal movement abnormality	60386	SLC25A19	ORPHA:99742
HP:0001557	Prenatal movement abnormality	26227	PHGDH	OMIM:256520
HP:0001557	Prenatal movement abnormality	4534	MTM1	ORPHA:596
HP:0001557	Prenatal movement abnormality	4534	MTM1	OMIM:310400
HP:0001557	Prenatal movement abnormality	4953	ODC1	OMIM:619075
HP:0001557	Prenatal movement abnormality	1798	DPAGT1	ORPHA:86309
HP:0001557	Prenatal movement abnormality	23299	BICD2	ORPHA:363454
HP:0001557	Prenatal movement abnormality	23299	BICD2	OMIM:618291
HP:0001557	Prenatal movement abnormality	253738	EBF3	OMIM:617330
HP:0001557	Prenatal movement abnormality	7874	USP7	ORPHA:500055
HP:0001557	Prenatal movement abnormality	57003	CCDC47	OMIM:618268
HP:0001557	Prenatal movement abnormality	157680	VPS13B	ORPHA:193
HP:0001557	Prenatal movement abnormality	4593	MUSK	OMIM:208150
HP:0001557	Prenatal movement abnormality	100128927	ZBTB42	OMIM:616248
HP:0001557	Prenatal movement abnormality	9453	GGPS1	OMIM:619518
HP:0001557	Prenatal movement abnormality	1861	TOR1A	OMIM:618947
HP:0001557	Prenatal movement abnormality	51692	CPSF3	OMIM:619876
HP:0001557	Prenatal movement abnormality	8087	FXR1	OMIM:618823
HP:0001557	Prenatal movement abnormality	8364	H4C3	OMIM:619758
HP:0001557	Prenatal movement abnormality	54499	TMCO1	OMIM:213980
HP:0001557	Prenatal movement abnormality	51611	DPH5	OMIM:620070
HP:0001557	Prenatal movement abnormality	4927	NUP88	OMIM:618393
HP:0001557	Prenatal movement abnormality	10293	TRAIP	OMIM:616777
HP:0001557	Prenatal movement abnormality	163175	LGI4	OMIM:617468
HP:0001557	Prenatal movement abnormality	60482	SLC5A7	ORPHA:98914
HP:0001557	Prenatal movement abnormality	1305	COL13A1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	1103	CHAT	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6576	SLC25A1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6843	VAMP1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6843	VAMP1	OMIM:618323
HP:0001557	Prenatal movement abnormality	375790	AGRN	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6572	SLC18A3	ORPHA:98914
HP:0001557	Prenatal movement abnormality	55164	SHQ1	OMIM:619922
HP:0001557	Prenatal movement abnormality	6519	SLC3A1	ORPHA:163690
HP:0001557	Prenatal movement abnormality	6519	SLC3A1	ORPHA:163693
HP:0001557	Prenatal movement abnormality	9581	PREPL	ORPHA:163690
HP:0001557	Prenatal movement abnormality	9581	PREPL	ORPHA:163693
HP:0001557	Prenatal movement abnormality	51244	CCDC174	OMIM:616816
HP:0001557	Prenatal movement abnormality	6663	SOX10	OMIM:609136
HP:0001557	Prenatal movement abnormality	2065	ERBB3	OMIM:607598
HP:0001557	Prenatal movement abnormality	5495	PPM1B	ORPHA:163693
HP:0001557	Prenatal movement abnormality	79823	CAMKMT	ORPHA:163693
HP:0001557	Prenatal movement abnormality	342035	GLDN	OMIM:617194
HP:0001557	Prenatal movement abnormality	729920	CRPPA	OMIM:614643
HP:0001557	Prenatal movement abnormality	8504	PEX3	OMIM:614882
HP:0001557	Prenatal movement abnormality	10269	ZMPSTE24	ORPHA:1662
HP:0001557	Prenatal movement abnormality	10269	ZMPSTE24	OMIM:275210
HP:0001557	Prenatal movement abnormality	23219	FBXO28	OMIM:619777
HP:0001557	Prenatal movement abnormality	84570	COL25A1	ORPHA:1143
HP:0001557	Prenatal movement abnormality	57222	ERGIC1	ORPHA:1143
HP:0001557	Prenatal movement abnormality	5824	PEX19	OMIM:614886
HP:0001557	Prenatal movement abnormality	5430	POLR2A	OMIM:618603
HP:0001557	Prenatal movement abnormality	6567	SLC16A2	ORPHA:59
HP:0001557	Prenatal movement abnormality	81570	CLPB	OMIM:616271
HP:0001557	Prenatal movement abnormality	58497	PRUNE1	OMIM:617481
HP:0001557	Prenatal movement abnormality	54101	RIPK4	OMIM:263650
HP:0001557	Prenatal movement abnormality	115286	SLC25A26	OMIM:616794
HP:0001557	Prenatal movement abnormality	29968	PSAT1	OMIM:616038
HP:0001557	Prenatal movement abnormality	5081	PAX7	OMIM:618578
HP:0001557	Prenatal movement abnormality	389827	MYMK	OMIM:254940
HP:0001557	Prenatal movement abnormality	285489	DOK7	OMIM:254300
HP:0001557	Prenatal movement abnormality	7846	TUBA1A	ORPHA:994
HP:0001557	Prenatal movement abnormality	4654	MYOD1	ORPHA:994
HP:0001557	Prenatal movement abnormality	4654	MYOD1	OMIM:618975
HP:0001557	Prenatal movement abnormality	94005	PIGS	OMIM:618143
HP:0001557	Prenatal movement abnormality	2733	GLE1	OMIM:611890
HP:0001557	Prenatal movement abnormality	84665	MYPN	ORPHA:171439
HP:0001557	Prenatal movement abnormality	390594	KBTBD13	ORPHA:171439
HP:0001557	Prenatal movement abnormality	91754	NEK9	OMIM:617022
HP:0001557	Prenatal movement abnormality	3800	KIF5C	OMIM:615282
HP:0001557	Prenatal movement abnormality	1134	CHRNA1	OMIM:253290
HP:0001557	Prenatal movement abnormality	340533	NEXMIF	OMIM:300912
HP:0001557	Prenatal movement abnormality	2743	GLRB	OMIM:614619
HP:0008716	Urethrovaginal fistula	197131	UBR1	OMIM:243800
HP:0008716	Urethrovaginal fistula	55112	DYNC2I1	ORPHA:93271
HP:0008716	Urethrovaginal fistula	57560	IFT80	ORPHA:93271
HP:0008716	Urethrovaginal fistula	57539	WDR35	ORPHA:93271
HP:0008716	Urethrovaginal fistula	79659	DYNC2H1	ORPHA:93271
HP:0008716	Urethrovaginal fistula	89891	DYNC2I2	ORPHA:93271
HP:0008715	Testicular dysgenesis	2626	GATA4	OMIM:615542
HP:0008715	Testicular dysgenesis	170302	ARX	OMIM:300419
HP:0008715	Testicular dysgenesis	1761	DMRT1	ORPHA:242
HP:0008715	Testicular dysgenesis	6662	SOX9	ORPHA:242
HP:0008715	Testicular dysgenesis	84733	CBX2	ORPHA:242
HP:0008715	Testicular dysgenesis	50846	DHH	ORPHA:242
HP:0008715	Testicular dysgenesis	50846	DHH	ORPHA:168563
HP:0008715	Testicular dysgenesis	4214	MAP3K1	ORPHA:242
HP:0008715	Testicular dysgenesis	2516	NR5A1	ORPHA:242
HP:0008715	Testicular dysgenesis	7490	WT1	ORPHA:242
HP:0008715	Testicular dysgenesis	57647	DHX37	ORPHA:242
HP:0008715	Testicular dysgenesis	6736	SRY	ORPHA:242
HP:0008715	Testicular dysgenesis	190	NR0B1	ORPHA:242
HP:0008715	Testicular dysgenesis	7259	TSPYL1	OMIM:608800
HP:0008718	Unilateral renal dysplasia	2625	GATA3	OMIM:146255
HP:0008718	Unilateral renal dysplasia	23556	PIGN	ORPHA:280633
HP:0008718	Unilateral renal dysplasia	54796	BNC2	ORPHA:93110
HP:0008730	Female external genitalia in individual with 46,XY karyotype	1528	CYB5A	ORPHA:90796
HP:0008730	Female external genitalia in individual with 46,XY karyotype	1586	CYP17A1	ORPHA:90796
HP:0008730	Female external genitalia in individual with 46,XY karyotype	1586	CYP17A1	ORPHA:90793
HP:0008730	Female external genitalia in individual with 46,XY karyotype	1583	CYP11A1	ORPHA:289548
HP:0008730	Female external genitalia in individual with 46,XY karyotype	1583	CYP11A1	ORPHA:168558
HP:0008730	Female external genitalia in individual with 46,XY karyotype	367	AR	OMIM:300068
HP:0008730	Female external genitalia in individual with 46,XY karyotype	367	AR	ORPHA:99429
HP:0008730	Female external genitalia in individual with 46,XY karyotype	6662	SOX9	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	6845	VAMP7	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	51741	WWOX	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	4214	MAP3K1	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	2516	NR5A1	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	7490	WT1	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	58524	DMRT3	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	57647	DHX37	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	6736	SRY	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	23414	ZFPM2	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	190	NR0B1	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	2626	GATA4	ORPHA:251510
HP:0008730	Female external genitalia in individual with 46,XY karyotype	3284	HSD3B2	ORPHA:90791
HP:0008730	Female external genitalia in individual with 46,XY karyotype	3293	HSD17B3	OMIM:264300
HP:0011772	Abnormal thyroid morphology	291	SLC25A4	ORPHA:254892
HP:0011772	Abnormal thyroid morphology	56652	TWNK	ORPHA:254892
HP:0011772	Abnormal thyroid morphology	11232	POLG2	ORPHA:254892
HP:0011772	Abnormal thyroid morphology	50484	RRM2B	ORPHA:254892
HP:0011772	Abnormal thyroid morphology	55213	RCBTB1	OMIM:617175
HP:0011772	Abnormal thyroid morphology	7068	THRB	OMIM:188570
HP:0011772	Abnormal thyroid morphology	7068	THRB	OMIM:274300
HP:0011772	Abnormal thyroid morphology	25981	DNAH1	OMIM:617577
HP:0011772	Abnormal thyroid morphology	3766	KCNJ10	ORPHA:705
HP:0011772	Abnormal thyroid morphology	3766	KCNJ10	OMIM:600791
HP:0011772	Abnormal thyroid morphology	3766	KCNJ10	OMIM:274600
HP:0011772	Abnormal thyroid morphology	2299	FOXI1	ORPHA:705
HP:0011772	Abnormal thyroid morphology	2299	FOXI1	OMIM:600791
HP:0011772	Abnormal thyroid morphology	2299	FOXI1	OMIM:274600
HP:0011772	Abnormal thyroid morphology	79783	SUGCT	OMIM:231690
HP:0011772	Abnormal thyroid morphology	7173	TPO	OMIM:274500
HP:0011772	Abnormal thyroid morphology	7173	TPO	ORPHA:95716
HP:0011772	Abnormal thyroid morphology	405753	DUOXA2	OMIM:274900
HP:0011772	Abnormal thyroid morphology	405753	DUOXA2	ORPHA:95716
HP:0011772	Abnormal thyroid morphology	779	CACNA1S	OMIM:188580
HP:0011772	Abnormal thyroid morphology	1026	CDKN1A	ORPHA:652
HP:0011772	Abnormal thyroid morphology	1030	CDKN2B	ORPHA:652
HP:0011772	Abnormal thyroid morphology	1031	CDKN2C	ORPHA:652
HP:0011772	Abnormal thyroid morphology	6528	SLC5A5	ORPHA:95716
HP:0011772	Abnormal thyroid morphology	6528	SLC5A5	OMIM:274400
HP:0011772	Abnormal thyroid morphology	389434	IYD	ORPHA:95716
HP:0011772	Abnormal thyroid morphology	389434	IYD	OMIM:274800
HP:0011772	Abnormal thyroid morphology	100134444	KCNJ18	OMIM:613239
HP:0011772	Abnormal thyroid morphology	2778	GNAS	ORPHA:562
HP:0011772	Abnormal thyroid morphology	64072	CDH23	ORPHA:91347
HP:0011772	Abnormal thyroid morphology	3418	IDH2	ORPHA:163634
HP:0011772	Abnormal thyroid morphology	3417	IDH1	ORPHA:163634
HP:0011772	Abnormal thyroid morphology	4437	MSH3	ORPHA:480536
HP:0011772	Abnormal thyroid morphology	4437	MSH3	OMIM:617100
HP:0011772	Abnormal thyroid morphology	4221	MEN1	OMIM:131100
HP:0011772	Abnormal thyroid morphology	1027	CDKN1B	ORPHA:276152
HP:0011772	Abnormal thyroid morphology	6909	TBX2	OMIM:618223
HP:0011772	Abnormal thyroid morphology	10068	IL18BP	OMIM:618549
HP:0011772	Abnormal thyroid morphology	5297	PI4KA	ORPHA:436252
HP:0011772	Abnormal thyroid morphology	57217	TTC7A	ORPHA:436252
HP:0011772	Abnormal thyroid morphology	5336	PLCG2	OMIM:614468
HP:0011772	Abnormal thyroid morphology	5428	POLG	ORPHA:94125
HP:0011772	Abnormal thyroid morphology	1493	CTLA4	OMIM:140300
HP:0011772	Abnormal thyroid morphology	27022	FOXD3	OMIM:607836
HP:0011772	Abnormal thyroid morphology	716	C1S	OMIM:613783
HP:0011772	Abnormal thyroid morphology	51816	ADA2	OMIM:615688
HP:0011772	Abnormal thyroid morphology	1188	CLCNKB	ORPHA:358
HP:0011772	Abnormal thyroid morphology	6559	SLC12A3	ORPHA:358
HP:0011772	Abnormal thyroid morphology	201163	FLCN	ORPHA:122
HP:0011772	Abnormal thyroid morphology	79577	CDC73	ORPHA:143
HP:0011772	Abnormal thyroid morphology	79577	CDC73	ORPHA:99880
HP:0011772	Abnormal thyroid morphology	26585	GREM1	ORPHA:157794
HP:0011772	Abnormal thyroid morphology	7486	WRN	ORPHA:902
HP:0011772	Abnormal thyroid morphology	7157	TP53	ORPHA:524
HP:0011772	Abnormal thyroid morphology	1029	CDKN2A	ORPHA:524
HP:0011772	Abnormal thyroid morphology	4193	MDM2	ORPHA:524
HP:0011772	Abnormal thyroid morphology	11200	CHEK2	ORPHA:524
HP:0011772	Abnormal thyroid morphology	6597	SMARCA4	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6598	SMARCB1	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6659	SOX4	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	8289	ARID1A	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	5977	DPF2	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6601	SMARCC2	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6602	SMARCD1	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	57492	ARID1B	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	196528	ARID2	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6605	SMARCE1	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	6664	SOX11	ORPHA:1465
HP:0011772	Abnormal thyroid morphology	182	JAG1	OMIM:118450
HP:0011772	Abnormal thyroid morphology	7840	ALMS1	OMIM:203800
HP:0011772	Abnormal thyroid morphology	9817	KEAP1	ORPHA:276399
HP:0011772	Abnormal thyroid morphology	23328	SASH1	OMIM:618373
HP:0011772	Abnormal thyroid morphology	8471	IRS4	OMIM:301035
HP:0011772	Abnormal thyroid morphology	2737	GLI3	ORPHA:672
HP:0011772	Abnormal thyroid morphology	84172	POLR1B	ORPHA:861
HP:0011772	Abnormal thyroid morphology	9533	POLR1C	ORPHA:861
HP:0011772	Abnormal thyroid morphology	51082	POLR1D	ORPHA:861
HP:0011772	Abnormal thyroid morphology	6949	TCOF1	ORPHA:861
HP:0011772	Abnormal thyroid morphology	7849	PAX8	OMIM:218700
HP:0011772	Abnormal thyroid morphology	7849	PAX8	ORPHA:95720
HP:0011772	Abnormal thyroid morphology	5626	PROP1	ORPHA:226307
HP:0011772	Abnormal thyroid morphology	89884	LHX4	ORPHA:226307
HP:0011772	Abnormal thyroid morphology	8022	LHX3	ORPHA:226307
HP:0011772	Abnormal thyroid morphology	5449	POU1F1	ORPHA:226307
HP:0011772	Abnormal thyroid morphology	8820	HESX1	ORPHA:226307
HP:0011772	Abnormal thyroid morphology	50814	NSDHL	OMIM:308050
HP:0011772	Abnormal thyroid morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011772	Abnormal thyroid morphology	50506	DUOX2	ORPHA:226316
HP:0011772	Abnormal thyroid morphology	1482	NKX2-5	OMIM:225250
HP:0011772	Abnormal thyroid morphology	2783	GNB2	OMIM:619503
HP:0011772	Abnormal thyroid morphology	7253	TSHR	OMIM:275200
HP:0011772	Abnormal thyroid morphology	7253	TSHR	ORPHA:90673
HP:0011772	Abnormal thyroid morphology	7253	TSHR	ORPHA:95720
HP:0011772	Abnormal thyroid morphology	23522	KAT6B	ORPHA:3047
HP:0011772	Abnormal thyroid morphology	8085	KMT2D	OMIM:620186
HP:0011772	Abnormal thyroid morphology	7201	TRHR	ORPHA:99832
HP:0011772	Abnormal thyroid morphology	5172	SLC26A4	ORPHA:95720
HP:0011772	Abnormal thyroid morphology	7252	TSHB	ORPHA:90674
HP:0011772	Abnormal thyroid morphology	4313	MMP2	ORPHA:371428
HP:0011772	Abnormal thyroid morphology	4323	MMP14	ORPHA:371428
HP:0011772	Abnormal thyroid morphology	5979	RET	OMIM:162300
HP:0011772	Abnormal thyroid morphology	2304	FOXE1	ORPHA:319487
HP:0011772	Abnormal thyroid morphology	3026	HABP2	ORPHA:319487
HP:0011772	Abnormal thyroid morphology	9562	MINPP1	ORPHA:319487
HP:0011772	Abnormal thyroid morphology	5573	PRKAR1A	ORPHA:1359
HP:0011772	Abnormal thyroid morphology	50940	PDE11A	ORPHA:1359
HP:0011772	Abnormal thyroid morphology	7080	NKX2-1	ORPHA:95713
HP:0011772	Abnormal thyroid morphology	147372	CCBE1	OMIM:235510
HP:0011772	Abnormal thyroid morphology	2138	EYA1	OMIM:113650
HP:0011772	Abnormal thyroid morphology	6495	SIX1	OMIM:113650
HP:0011772	Abnormal thyroid morphology	4281	MID1	ORPHA:2745
HP:0011772	Abnormal thyroid morphology	54539	NDUFB11	OMIM:300952
HP:0011772	Abnormal thyroid morphology	23405	DICER1	OMIM:180295
HP:0011772	Abnormal thyroid morphology	324	APC	ORPHA:247806
HP:0011772	Abnormal thyroid morphology	324	APC	ORPHA:79665
HP:0011772	Abnormal thyroid morphology	4893	NRAS	OMIM:188470
HP:0011772	Abnormal thyroid morphology	57522	SRGAP1	OMIM:188470
HP:0011772	Abnormal thyroid morphology	3265	HRAS	OMIM:188470
HP:0011772	Abnormal thyroid morphology	3977	LIFR	ORPHA:3206
HP:0011772	Abnormal thyroid morphology	64218	SEMA4A	ORPHA:440437
HP:0011772	Abnormal thyroid morphology	657	BMPR1A	ORPHA:440437
HP:0011772	Abnormal thyroid morphology	6224	RPS20	ORPHA:440437
HP:0011772	Abnormal thyroid morphology	4072	EPCAM	ORPHA:144
HP:0011772	Abnormal thyroid morphology	4292	MLH1	ORPHA:144
HP:0011772	Abnormal thyroid morphology	5395	PMS2	ORPHA:144
HP:0011772	Abnormal thyroid morphology	27030	MLH3	ORPHA:144
HP:0011772	Abnormal thyroid morphology	22909	FAN1	ORPHA:144
HP:0011772	Abnormal thyroid morphology	7048	TGFBR2	ORPHA:144
HP:0011772	Abnormal thyroid morphology	3845	KRAS	ORPHA:144
HP:0011772	Abnormal thyroid morphology	5290	PIK3CA	ORPHA:144
HP:0011772	Abnormal thyroid morphology	5290	PIK3CA	ORPHA:201
HP:0011772	Abnormal thyroid morphology	2956	MSH6	ORPHA:144
HP:0011772	Abnormal thyroid morphology	5378	PMS1	ORPHA:144
HP:0011772	Abnormal thyroid morphology	4436	MSH2	ORPHA:144
HP:0011772	Abnormal thyroid morphology	215	ABCD1	ORPHA:388
HP:0011772	Abnormal thyroid morphology	2668	GDNF	ORPHA:388
HP:0011772	Abnormal thyroid morphology	6608	SMO	ORPHA:388
HP:0011772	Abnormal thyroid morphology	1889	ECE1	ORPHA:388
HP:0011772	Abnormal thyroid morphology	6720	SREBF1	ORPHA:388
HP:0011772	Abnormal thyroid morphology	1908	EDN3	ORPHA:388
HP:0011772	Abnormal thyroid morphology	223117	SEMA3D	ORPHA:388
HP:0011772	Abnormal thyroid morphology	538	ATP7A	ORPHA:388
HP:0011772	Abnormal thyroid morphology	1910	EDNRB	ORPHA:388
HP:0011772	Abnormal thyroid morphology	10512	SEMA3C	ORPHA:388
HP:0011772	Abnormal thyroid morphology	2064	ERBB2	ORPHA:388
HP:0011772	Abnormal thyroid morphology	2065	ERBB3	ORPHA:388
HP:0011772	Abnormal thyroid morphology	4902	NRTN	ORPHA:388
HP:0011772	Abnormal thyroid morphology	10483	SEC23B	ORPHA:201
HP:0011772	Abnormal thyroid morphology	5728	PTEN	ORPHA:201
HP:0011772	Abnormal thyroid morphology	5728	PTEN	ORPHA:65285
HP:0011772	Abnormal thyroid morphology	5728	PTEN	ORPHA:137608
HP:0011772	Abnormal thyroid morphology	6390	SDHB	ORPHA:201
HP:0011772	Abnormal thyroid morphology	6392	SDHD	ORPHA:201
HP:0011772	Abnormal thyroid morphology	6391	SDHC	ORPHA:201
HP:0011772	Abnormal thyroid morphology	207	AKT1	ORPHA:201
HP:0011772	Abnormal thyroid morphology	205717	USF3	ORPHA:201
HP:0011772	Abnormal thyroid morphology	100144748	KLLN	ORPHA:201
HP:0011772	Abnormal thyroid morphology	4000	LMNA	ORPHA:79474
HP:0011772	Abnormal thyroid morphology	355	FAS	ORPHA:3261
HP:0011772	Abnormal thyroid morphology	356	FASLG	ORPHA:3261
HP:0011772	Abnormal thyroid morphology	5580	PRKCD	ORPHA:3261
HP:0011772	Abnormal thyroid morphology	843	CASP10	ORPHA:3261
HP:0011772	Abnormal thyroid morphology	10125	RASGRP1	ORPHA:3261
HP:0011772	Abnormal thyroid morphology	6772	STAT1	ORPHA:391487
HP:0011772	Abnormal thyroid morphology	10043	TOM1	ORPHA:391487
HP:0011772	Abnormal thyroid morphology	4791	NFKB2	ORPHA:293978
HP:0011772	Abnormal thyroid morphology	2859	GPR35	ORPHA:171
HP:0011772	Abnormal thyroid morphology	10507	SEMA4D	ORPHA:171
HP:0011772	Abnormal thyroid morphology	4485	MST1	ORPHA:171
HP:0011772	Abnormal thyroid morphology	6925	TCF4	ORPHA:171
HP:0011772	Abnormal thyroid morphology	8651	SOCS1	OMIM:619375
HP:0011772	Abnormal thyroid morphology	50943	FOXP3	ORPHA:37042
HP:0011772	Abnormal thyroid morphology	6777	STAT5B	OMIM:618985
HP:0011772	Abnormal thyroid morphology	987	LRBA	OMIM:614700
HP:0011772	Abnormal thyroid morphology	3117	HLA-DQA1	OMIM:212750
HP:0011772	Abnormal thyroid morphology	3119	HLA-DQB1	OMIM:212750
HP:0011772	Abnormal thyroid morphology	6023	RMRP	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	55636	CHD7	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	3981	LIG4	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	5896	RAG1	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	5897	RAG2	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	64421	DCLRE1C	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	100	ADA	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	3575	IL7R	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	3561	IL2RG	ORPHA:39041
HP:0011772	Abnormal thyroid morphology	83737	ITCH	ORPHA:228426
HP:0011772	Abnormal thyroid morphology	57623	ZFAT	OMIM:608175
HP:0011772	Abnormal thyroid morphology	7038	TG	OMIM:608175
HP:0011772	Abnormal thyroid morphology	22861	NLRP1	OMIM:617388
HP:0011772	Abnormal thyroid morphology	3559	IL2RA	OMIM:606367
HP:0011772	Abnormal thyroid morphology	2542	SLC37A4	ORPHA:79259
HP:0008722	Urethral diverticulum	5337	PLD1	OMIM:212093
HP:0008722	Urethral diverticulum	4052	LTBP1	ORPHA:90349
HP:0008722	Urethral diverticulum	30008	EFEMP2	ORPHA:90349
HP:0008722	Urethral diverticulum	10516	FBLN5	ORPHA:90349
HP:0008722	Urethral diverticulum	10046	MAMLD1	ORPHA:95706
HP:0008722	Urethral diverticulum	367	AR	ORPHA:95706
HP:0008723	Gonadal dysgenesis with female appearance, male	57647	DHX37	OMIM:273250
HP:0008723	Gonadal dysgenesis with female appearance, male	6736	SRY	OMIM:400044
HP:0008723	Gonadal dysgenesis with female appearance, male	7490	WT1	ORPHA:347
HP:0008723	Gonadal dysgenesis with female appearance, male	50846	DHH	ORPHA:168563
HP:0008724	Hypoplasia of the ovary	79796	ALG9	ORPHA:79328
HP:0008724	Hypoplasia of the ovary	2260	FGFR1	ORPHA:432
HP:0008724	Hypoplasia of the ovary	81848	SPRY4	ORPHA:432
HP:0008724	Hypoplasia of the ovary	128674	PROKR2	ORPHA:432
HP:0008724	Hypoplasia of the ovary	2253	FGF8	ORPHA:432
HP:0008724	Hypoplasia of the ovary	60675	PROK2	ORPHA:432
HP:0008724	Hypoplasia of the ovary	55636	CHD7	ORPHA:432
HP:0008724	Hypoplasia of the ovary	6870	TACR3	ORPHA:432
HP:0008724	Hypoplasia of the ovary	1848	DUSP6	ORPHA:432
HP:0008724	Hypoplasia of the ovary	26012	NSMF	ORPHA:432
HP:0008724	Hypoplasia of the ovary	55717	WDR11	ORPHA:432
HP:0008724	Hypoplasia of the ovary	9394	HS6ST1	ORPHA:432
HP:0008724	Hypoplasia of the ovary	2796	GNRH1	ORPHA:432
HP:0008724	Hypoplasia of the ovary	2796	GNRH1	OMIM:614841
HP:0008724	Hypoplasia of the ovary	2798	GNRHR	ORPHA:432
HP:0008724	Hypoplasia of the ovary	84634	KISS1R	ORPHA:432
HP:0008724	Hypoplasia of the ovary	6866	TAC3	ORPHA:432
HP:0008724	Hypoplasia of the ovary	8822	FGF17	ORPHA:432
HP:0008724	Hypoplasia of the ovary	3814	KISS1	ORPHA:432
HP:0008724	Hypoplasia of the ovary	92482	BBIP1	ORPHA:110
HP:0008724	Hypoplasia of the ovary	80184	CEP290	ORPHA:110
HP:0008724	Hypoplasia of the ovary	11020	IFT27	ORPHA:110
HP:0008724	Hypoplasia of the ovary	582	BBS1	ORPHA:110
HP:0008724	Hypoplasia of the ovary	49855	SCAPER	ORPHA:110
HP:0008724	Hypoplasia of the ovary	4867	NPHP1	ORPHA:110
HP:0008724	Hypoplasia of the ovary	51057	WDPCP	ORPHA:110
HP:0008724	Hypoplasia of the ovary	27241	BBS9	ORPHA:110
HP:0008724	Hypoplasia of the ovary	84984	CEP19	ORPHA:110
HP:0008724	Hypoplasia of the ovary	22954	TRIM32	ORPHA:110
HP:0008724	Hypoplasia of the ovary	54903	MKS1	ORPHA:110
HP:0008724	Hypoplasia of the ovary	79738	BBS10	ORPHA:110
HP:0008724	Hypoplasia of the ovary	123016	TTC8	ORPHA:110
HP:0008724	Hypoplasia of the ovary	26160	IFT172	ORPHA:110
HP:0008724	Hypoplasia of the ovary	583	BBS2	ORPHA:110
HP:0008724	Hypoplasia of the ovary	585	BBS4	ORPHA:110
HP:0008724	Hypoplasia of the ovary	8195	MKKS	ORPHA:110
HP:0008724	Hypoplasia of the ovary	54585	LZTFL1	ORPHA:110
HP:0008724	Hypoplasia of the ovary	55212	BBS7	ORPHA:110
HP:0008724	Hypoplasia of the ovary	166379	BBS12	ORPHA:110
HP:0008724	Hypoplasia of the ovary	10806	SDCCAG8	ORPHA:110
HP:0008724	Hypoplasia of the ovary	157657	CFAP418	ORPHA:110
HP:0008724	Hypoplasia of the ovary	84100	ARL6	ORPHA:110
HP:0008724	Hypoplasia of the ovary	129880	BBS5	ORPHA:110
HP:0008724	Hypoplasia of the ovary	80173	IFT74	ORPHA:110
HP:0008724	Hypoplasia of the ovary	317761	C14orf39	OMIM:619203
HP:0008724	Hypoplasia of the ovary	5781	PTPN11	OMIM:151100
HP:0008724	Hypoplasia of the ovary	79625	NDNF	OMIM:618841
HP:0008724	Hypoplasia of the ovary	8882	ZPR1	OMIM:619321
HP:0008724	Hypoplasia of the ovary	23395	LARS2	OMIM:615300
HP:0008724	Hypoplasia of the ovary	164045	HFM1	OMIM:615724
HP:0008724	Hypoplasia of the ovary	84515	MCM8	OMIM:612885
HP:0008724	Hypoplasia of the ovary	3953	LEPR	ORPHA:179494
HP:0008724	Hypoplasia of the ovary	3952	LEP	ORPHA:66628
HP:0008724	Hypoplasia of the ovary	29893	PSMC3IP	ORPHA:243
HP:0008724	Hypoplasia of the ovary	171568	POLR3H	ORPHA:243
HP:0008724	Hypoplasia of the ovary	2516	NR5A1	ORPHA:243
HP:0008724	Hypoplasia of the ovary	2516	NR5A1	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	125150	ZSWIM7	ORPHA:243
HP:0008724	Hypoplasia of the ovary	125150	ZSWIM7	OMIM:619834
HP:0008724	Hypoplasia of the ovary	9210	BMP15	ORPHA:243
HP:0008724	Hypoplasia of the ovary	9210	BMP15	OMIM:300510
HP:0008724	Hypoplasia of the ovary	57122	NUP107	ORPHA:243
HP:0008724	Hypoplasia of the ovary	23514	SPIDR	ORPHA:243
HP:0008724	Hypoplasia of the ovary	2492	FSHR	ORPHA:243
HP:0008724	Hypoplasia of the ovary	56945	MRPS22	ORPHA:243
HP:0008724	Hypoplasia of the ovary	646	BNC1	ORPHA:243
HP:0008724	Hypoplasia of the ovary	26284	ERAL1	OMIM:617565
HP:0008724	Hypoplasia of the ovary	344018	FIGLA	OMIM:612310
HP:0008724	Hypoplasia of the ovary	6736	SRY	ORPHA:1772
HP:0008724	Hypoplasia of the ovary	6736	SRY	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	4659	PPP1R12A	OMIM:618820
HP:0008724	Hypoplasia of the ovary	8192	CLPP	OMIM:614129
HP:0008724	Hypoplasia of the ovary	6662	SOX9	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	6845	VAMP7	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	51741	WWOX	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	4214	MAP3K1	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	7490	WT1	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	7490	WT1	OMIM:194072
HP:0008724	Hypoplasia of the ovary	7490	WT1	ORPHA:347
HP:0008724	Hypoplasia of the ovary	58524	DMRT3	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	57647	DHX37	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	23414	ZFPM2	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	190	NR0B1	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	2626	GATA4	ORPHA:251510
HP:0008724	Hypoplasia of the ovary	10734	STAG3	OMIM:615723
HP:0008724	Hypoplasia of the ovary	23438	HARS2	OMIM:614926
HP:0008724	Hypoplasia of the ovary	80067	DCAF17	ORPHA:3464
HP:0008724	Hypoplasia of the ovary	135935	NOBOX	OMIM:611548
HP:0008724	Hypoplasia of the ovary	5080	PAX6	OMIM:194072
HP:0008724	Hypoplasia of the ovary	26040	SETBP1	ORPHA:798
HP:0008724	Hypoplasia of the ovary	668	FOXL2	ORPHA:572333
HP:0008724	Hypoplasia of the ovary	50846	DHH	OMIM:233420
HP:0008724	Hypoplasia of the ovary	50846	DHH	ORPHA:168563
HP:0001560	Abnormality of the amniotic fluid	55163	PNPO	ORPHA:79096
HP:0001560	Abnormality of the amniotic fluid	3030	HADHA	OMIM:609015
HP:0001560	Abnormality of the amniotic fluid	7390	UROS	ORPHA:79277
HP:0001560	Abnormality of the amniotic fluid	2623	GATA1	ORPHA:79277
HP:0001560	Abnormality of the amniotic fluid	56052	ALG1	OMIM:608540
HP:0001560	Abnormality of the amniotic fluid	5373	PMM2	OMIM:212065
HP:0001560	Abnormality of the amniotic fluid	7389	UROD	ORPHA:95159
HP:0001560	Abnormality of the amniotic fluid	2137	EXTL3	ORPHA:508533
HP:0001560	Abnormality of the amniotic fluid	83483	PLVAP	OMIM:618183
HP:0001560	Abnormality of the amniotic fluid	2294	FOXF1	OMIM:265380
HP:0001560	Abnormality of the amniotic fluid	8036	SHOC2	OMIM:607721
HP:0001560	Abnormality of the amniotic fluid	3763	KCNJ6	ORPHA:435628
HP:0001560	Abnormality of the amniotic fluid	3763	KCNJ6	OMIM:614098
HP:0001560	Abnormality of the amniotic fluid	199857	ALG14	OMIM:619036
HP:0001560	Abnormality of the amniotic fluid	104	ADARB1	OMIM:618862
HP:0001560	Abnormality of the amniotic fluid	10046	MAMLD1	ORPHA:456328
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	ORPHA:456328
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	ORPHA:596
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	OMIM:310400
HP:0001560	Abnormality of the amniotic fluid	2304	FOXE1	OMIM:241850
HP:0001560	Abnormality of the amniotic fluid	2304	FOXE1	ORPHA:1226
HP:0001560	Abnormality of the amniotic fluid	8506	CNTNAP1	OMIM:618186
HP:0001560	Abnormality of the amniotic fluid	8506	CNTNAP1	OMIM:616286
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	ORPHA:158684
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	OMIM:226730
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	OMIM:612138
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	ORPHA:158684
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	ORPHA:79403
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	OMIM:226730
HP:0001560	Abnormality of the amniotic fluid	55503	TRPV6	OMIM:618188
HP:0001560	Abnormality of the amniotic fluid	6016	RIT1	OMIM:615355
HP:0001560	Abnormality of the amniotic fluid	23556	PIGN	ORPHA:2059
HP:0001560	Abnormality of the amniotic fluid	23556	PIGN	OMIM:614080
HP:0001560	Abnormality of the amniotic fluid	673	BRAF	OMIM:115150
HP:0001560	Abnormality of the amniotic fluid	57539	WDR35	OMIM:613610
HP:0001560	Abnormality of the amniotic fluid	5894	RAF1	OMIM:611553
HP:0001560	Abnormality of the amniotic fluid	4897	NRCAM	OMIM:619833
HP:0001560	Abnormality of the amniotic fluid	145173	B3GLCT	ORPHA:709
HP:0001560	Abnormality of the amniotic fluid	145173	B3GLCT	OMIM:261540
HP:0001560	Abnormality of the amniotic fluid	22800	RRAS2	OMIM:618624
HP:0001560	Abnormality of the amniotic fluid	8854	ALDH1A2	OMIM:620025
HP:0001560	Abnormality of the amniotic fluid	23169	SLC35D1	ORPHA:3144
HP:0001560	Abnormality of the amniotic fluid	23169	SLC35D1	OMIM:269250
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	ORPHA:93274
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	ORPHA:1860
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:100800
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:187601
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:187600
HP:0001560	Abnormality of the amniotic fluid	2629	GBA1	OMIM:608013
HP:0001560	Abnormality of the amniotic fluid	3655	ITGA6	ORPHA:79403
HP:0001560	Abnormality of the amniotic fluid	4487	MSX1	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	5818	NECTIN1	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	8626	TP63	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	3664	IRF6	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:56305
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:1190
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	OMIM:108720
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:1263
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	ORPHA:56304
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	OMIM:600972
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	ORPHA:93298
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	OMIM:161800
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	OMIM:256030
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	OMIM:619334
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	OMIM:615731
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	OMIM:616165
HP:0001560	Abnormality of the amniotic fluid	1073	CFL2	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	51112	TRAPPC12	ORPHA:500144
HP:0001560	Abnormality of the amniotic fluid	249	ALPL	OMIM:241500
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	80816	ASXL3	OMIM:615485
HP:0001560	Abnormality of the amniotic fluid	131377	KLHL40	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	131377	KLHL40	OMIM:615348
HP:0001560	Abnormality of the amniotic fluid	1785	DNM2	OMIM:615368
HP:0001560	Abnormality of the amniotic fluid	1785	DNM2	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	1841	DTYMK	OMIM:619847
HP:0001560	Abnormality of the amniotic fluid	22858	CILK1	OMIM:612651
HP:0001560	Abnormality of the amniotic fluid	477	ATP1A2	OMIM:619602
HP:0001560	Abnormality of the amniotic fluid	2132	EXT2	ORPHA:466926
HP:0001560	Abnormality of the amniotic fluid	6662	SOX9	OMIM:114290
HP:0001560	Abnormality of the amniotic fluid	1717	DHCR7	ORPHA:818
HP:0001560	Abnormality of the amniotic fluid	9200	HACD1	OMIM:619967
HP:0001560	Abnormality of the amniotic fluid	9200	HACD1	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	55636	CHD7	ORPHA:138
HP:0001560	Abnormality of the amniotic fluid	55636	CHD7	OMIM:214800
HP:0001560	Abnormality of the amniotic fluid	9723	SEMA3E	ORPHA:138
HP:0001560	Abnormality of the amniotic fluid	7125	TNNC2	OMIM:620161
HP:0001560	Abnormality of the amniotic fluid	535	ATP6V0A1	OMIM:619971
HP:0001560	Abnormality of the amniotic fluid	1272	CNTN1	OMIM:612540
HP:0001560	Abnormality of the amniotic fluid	23522	KAT6B	OMIM:606170
HP:0001560	Abnormality of the amniotic fluid	23522	KAT6B	ORPHA:3047
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	OMIM:255320
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	ORPHA:98905
HP:0001560	Abnormality of the amniotic fluid	10606	PAICS	OMIM:619859
HP:0001560	Abnormality of the amniotic fluid	55107	ANO1	OMIM:620045
HP:0001560	Abnormality of the amniotic fluid	79087	ALG12	OMIM:607143
HP:0001560	Abnormality of the amniotic fluid	79087	ALG12	ORPHA:79324
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	ORPHA:166063
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	OMIM:277470
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	OMIM:225753
HP:0001560	Abnormality of the amniotic fluid	4524	MTHFR	ORPHA:563612
HP:0001560	Abnormality of the amniotic fluid	57216	VANGL2	ORPHA:563612
HP:0001560	Abnormality of the amniotic fluid	9896	FIG4	ORPHA:3472
HP:0001560	Abnormality of the amniotic fluid	9896	FIG4	OMIM:216340
HP:0001560	Abnormality of the amniotic fluid	55697	VAC14	ORPHA:3472
HP:0001560	Abnormality of the amniotic fluid	57190	SELENON	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	4633	MYL2	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	3679	ITGA7	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	51776	MAP3K20	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	9184	BUB3	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	699	BUB1	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	9702	CEP57	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	9319	TRIP13	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	10203	CALCRL	OMIM:618773
HP:0001560	Abnormality of the amniotic fluid	4632	MYL1	OMIM:618414
HP:0001560	Abnormality of the amniotic fluid	200734	SPRED2	OMIM:619745
HP:0001560	Abnormality of the amniotic fluid	25942	SIN3A	OMIM:613406
HP:0001560	Abnormality of the amniotic fluid	3265	HRAS	OMIM:218040
HP:0001560	Abnormality of the amniotic fluid	3265	HRAS	ORPHA:3071
HP:0001560	Abnormality of the amniotic fluid	26227	PHGDH	OMIM:256520
HP:0001560	Abnormality of the amniotic fluid	129563	DIS3L2	OMIM:267000
HP:0001560	Abnormality of the amniotic fluid	4953	ODC1	OMIM:619075
HP:0001560	Abnormality of the amniotic fluid	4953	ODC1	ORPHA:544488
HP:0001560	Abnormality of the amniotic fluid	7809	BSND	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	7809	BSND	OMIM:602522
HP:0001560	Abnormality of the amniotic fluid	1188	CLCNKB	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	1188	CLCNKB	OMIM:613090
HP:0001560	Abnormality of the amniotic fluid	1187	CLCNKA	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	1187	CLCNKA	OMIM:613090
HP:0001560	Abnormality of the amniotic fluid	1186	CLCN7	OMIM:618541
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	OMIM:243150
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	ORPHA:2300
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	ORPHA:436252
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	OMIM:151210
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	ORPHA:93316
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	ORPHA:85166
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	OMIM:200610
HP:0001560	Abnormality of the amniotic fluid	4593	MUSK	OMIM:208150
HP:0001560	Abnormality of the amniotic fluid	4593	MUSK	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	57498	KIDINS220	ORPHA:521390
HP:0001560	Abnormality of the amniotic fluid	57498	KIDINS220	OMIM:617296
HP:0001560	Abnormality of the amniotic fluid	56006	SMG9	OMIM:616920
HP:0001560	Abnormality of the amniotic fluid	6135	RPL11	OMIM:612562
HP:0001560	Abnormality of the amniotic fluid	100128927	ZBTB42	OMIM:616248
HP:0001560	Abnormality of the amniotic fluid	9091	PIGQ	OMIM:618548
HP:0001560	Abnormality of the amniotic fluid	6134	RPL10	ORPHA:459070
HP:0001560	Abnormality of the amniotic fluid	6134	RPL10	OMIM:300998
HP:0001560	Abnormality of the amniotic fluid	23345	SYNE1	ORPHA:319332
HP:0001560	Abnormality of the amniotic fluid	54499	TMCO1	OMIM:213980
HP:0001560	Abnormality of the amniotic fluid	54499	TMCO1	ORPHA:1394
HP:0001560	Abnormality of the amniotic fluid	157570	ESCO2	ORPHA:3103
HP:0001560	Abnormality of the amniotic fluid	157570	ESCO2	OMIM:268300
HP:0001560	Abnormality of the amniotic fluid	8085	KMT2D	OMIM:620186
HP:0001560	Abnormality of the amniotic fluid	51611	DPH5	OMIM:620070
HP:0001560	Abnormality of the amniotic fluid	554	AVPR2	ORPHA:223
HP:0001560	Abnormality of the amniotic fluid	359	AQP2	ORPHA:223
HP:0001560	Abnormality of the amniotic fluid	5605	MAP2K2	OMIM:615280
HP:0001560	Abnormality of the amniotic fluid	7547	ZIC3	OMIM:314390
HP:0001560	Abnormality of the amniotic fluid	7547	ZIC3	OMIM:306955
HP:0001560	Abnormality of the amniotic fluid	59336	PRDM13	OMIM:619761
HP:0001560	Abnormality of the amniotic fluid	3845	KRAS	ORPHA:3339
HP:0001560	Abnormality of the amniotic fluid	3845	KRAS	OMIM:609942
HP:0001560	Abnormality of the amniotic fluid	1811	SLC26A3	OMIM:214700
HP:0001560	Abnormality of the amniotic fluid	25802	LMOD1	ORPHA:2241
HP:0001560	Abnormality of the amniotic fluid	25802	LMOD1	OMIM:619362
HP:0001560	Abnormality of the amniotic fluid	7841	MOGS	ORPHA:79330
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	2065	ERBB3	OMIM:607598
HP:0001560	Abnormality of the amniotic fluid	2271	FH	OMIM:606812
HP:0001560	Abnormality of the amniotic fluid	3930	LBR	OMIM:215140
HP:0001560	Abnormality of the amniotic fluid	2239	GPC4	ORPHA:373
HP:0001560	Abnormality of the amniotic fluid	2239	GPC4	OMIM:312870
HP:0001560	Abnormality of the amniotic fluid	2719	GPC3	ORPHA:373
HP:0001560	Abnormality of the amniotic fluid	2719	GPC3	OMIM:312870
HP:0001560	Abnormality of the amniotic fluid	79989	IFT56	OMIM:619534
HP:0001560	Abnormality of the amniotic fluid	9652	SKIC3	OMIM:222470
HP:0001560	Abnormality of the amniotic fluid	64321	SOX17	OMIM:613674
HP:0001560	Abnormality of the amniotic fluid	84665	MYPN	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	390594	KBTBD13	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	9321	TRIP11	ORPHA:93299
HP:0001560	Abnormality of the amniotic fluid	9321	TRIP11	OMIM:200600
HP:0001560	Abnormality of the amniotic fluid	5048	PAFAH1B1	ORPHA:95232
HP:0001560	Abnormality of the amniotic fluid	5048	PAFAH1B1	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	3339	HSPG2	ORPHA:800
HP:0001560	Abnormality of the amniotic fluid	286204	CRB2	OMIM:219730
HP:0001560	Abnormality of the amniotic fluid	10682	EBP	OMIM:302960
HP:0001560	Abnormality of the amniotic fluid	6567	SLC16A2	ORPHA:59
HP:0001560	Abnormality of the amniotic fluid	171023	ASXL1	OMIM:605039
HP:0001560	Abnormality of the amniotic fluid	81570	CLPB	OMIM:616271
HP:0001560	Abnormality of the amniotic fluid	91137	SLC25A46	OMIM:619303
HP:0001560	Abnormality of the amniotic fluid	8621	CDK13	OMIM:617360
HP:0001560	Abnormality of the amniotic fluid	867	CBL	OMIM:613563
HP:0001560	Abnormality of the amniotic fluid	29968	PSAT1	OMIM:616038
HP:0001560	Abnormality of the amniotic fluid	1146	CHRNG	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	1144	CHRND	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	1134	CHRNA1	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	55112	DYNC2I1	OMIM:615503
HP:0001560	Abnormality of the amniotic fluid	8216	LZTR1	OMIM:605275
HP:0001560	Abnormality of the amniotic fluid	6654	SOS1	OMIM:610733
HP:0001560	Abnormality of the amniotic fluid	4054	LTBP3	OMIM:617809
HP:0001560	Abnormality of the amniotic fluid	9949	AMMECR1	OMIM:300990
HP:0001560	Abnormality of the amniotic fluid	9361	LONP1	OMIM:600373
HP:0001560	Abnormality of the amniotic fluid	55906	ZC4H2	OMIM:301041
HP:0001560	Abnormality of the amniotic fluid	112	ADCY6	OMIM:616287
HP:0001560	Abnormality of the amniotic fluid	9780	PIEZO1	OMIM:616843
HP:0001560	Abnormality of the amniotic fluid	2632	GBE1	OMIM:232500
HP:0001560	Abnormality of the amniotic fluid	89891	DYNC2I2	OMIM:615633
HP:0001560	Abnormality of the amniotic fluid	2733	GLE1	ORPHA:1486
HP:0001560	Abnormality of the amniotic fluid	5396	PRRX1	OMIM:202650
HP:0001560	Abnormality of the amniotic fluid	5396	PRRX1	ORPHA:990
HP:0001560	Abnormality of the amniotic fluid	92335	STRADA	ORPHA:500533
HP:0001560	Abnormality of the amniotic fluid	92335	STRADA	OMIM:611087
HP:0001560	Abnormality of the amniotic fluid	6334	SCN8A	OMIM:614306
HP:0001560	Abnormality of the amniotic fluid	8818	DPM2	ORPHA:329178
HP:0001560	Abnormality of the amniotic fluid	7473	WNT3	ORPHA:3301
HP:0001560	Abnormality of the amniotic fluid	340419	RSPO2	ORPHA:3301
HP:0001560	Abnormality of the amniotic fluid	64419	MTMR14	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	4618	MYF6	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	5745	PTH1R	OMIM:215045
HP:0001560	Abnormality of the amniotic fluid	5745	PTH1R	ORPHA:50945
HP:0001560	Abnormality of the amniotic fluid	55593	OTUD5	OMIM:301056
HP:0001560	Abnormality of the amniotic fluid	10999	SLC27A4	OMIM:608649
HP:0001560	Abnormality of the amniotic fluid	6647	SOD1	OMIM:618598
HP:0001560	Abnormality of the amniotic fluid	113179	ADAT3	ORPHA:363528
HP:0001560	Abnormality of the amniotic fluid	4893	NRAS	OMIM:613224
HP:0001560	Abnormality of the amniotic fluid	2033	EP300	ORPHA:353284
HP:0001560	Abnormality of the amniotic fluid	2033	EP300	OMIM:180849
HP:0001560	Abnormality of the amniotic fluid	55033	FKBP14	OMIM:614557
HP:0001560	Abnormality of the amniotic fluid	6513	SLC2A1	OMIM:608885
HP:0001560	Abnormality of the amniotic fluid	1760	DMPK	OMIM:160900
HP:0001560	Abnormality of the amniotic fluid	1760	DMPK	ORPHA:589821
HP:0001560	Abnormality of the amniotic fluid	6904	TBCD	ORPHA:496641
HP:0001560	Abnormality of the amniotic fluid	10916	MAGED2	OMIM:300971
HP:0001560	Abnormality of the amniotic fluid	2530	FUT8	OMIM:618005
HP:0001560	Abnormality of the amniotic fluid	1956	EGFR	OMIM:616069
HP:0001560	Abnormality of the amniotic fluid	54496	PRMT7	OMIM:617157
HP:0001560	Abnormality of the amniotic fluid	7019	TFAM	OMIM:617156
HP:0001560	Abnormality of the amniotic fluid	6550	SLC9A3	OMIM:616868
HP:0001560	Abnormality of the amniotic fluid	80746	TSEN2	OMIM:612389
HP:0001560	Abnormality of the amniotic fluid	51008	ASCC1	OMIM:616867
HP:0001560	Abnormality of the amniotic fluid	57211	ADGRG6	OMIM:616503
HP:0001560	Abnormality of the amniotic fluid	2917	GRM7	OMIM:618922
HP:0001560	Abnormality of the amniotic fluid	1312	COMT	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	221037	JMJD1C	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	2812	GP1BB	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	6239	RREB1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	6899	TBX1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	7290	HIRA	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	9632	SEC24C	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	7353	UFD1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	421	ARVCF	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	8604	SLC25A12	OMIM:612949
HP:0001560	Abnormality of the amniotic fluid	7703	PCGF2	OMIM:618371
HP:0001560	Abnormality of the amniotic fluid	6557	SLC12A1	OMIM:601678
HP:0001560	Abnormality of the amniotic fluid	3758	KCNJ1	OMIM:241200
HP:0001560	Abnormality of the amniotic fluid	5277	PIGA	OMIM:300868
HP:0001560	Abnormality of the amniotic fluid	4613	MYCN	OMIM:164280
HP:0001560	Abnormality of the amniotic fluid	10320	IKZF1	OMIM:616873
HP:0001560	Abnormality of the amniotic fluid	55210	ATAD3A	OMIM:618810
HP:0001560	Abnormality of the amniotic fluid	208	AKT2	OMIM:240900
HP:0001560	Abnormality of the amniotic fluid	124997	WDR81	OMIM:617967
HP:0001560	Abnormality of the amniotic fluid	4927	NUP88	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4927	NUP88	OMIM:618393
HP:0001560	Abnormality of the amniotic fluid	7846	TUBA1A	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4654	MYOD1	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4654	MYOD1	OMIM:618975
HP:0001560	Abnormality of the amniotic fluid	5913	RAPSN	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	6572	SLC18A3	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	6572	SLC18A3	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	285489	DOK7	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	5015	OTX2	ORPHA:990
HP:0001560	Abnormality of the amniotic fluid	80347	COASY	OMIM:618266
HP:0001560	Abnormality of the amniotic fluid	6628	SNRPB	OMIM:117650
HP:0001560	Abnormality of the amniotic fluid	57003	CCDC47	OMIM:618268
HP:0001560	Abnormality of the amniotic fluid	10526	IPO8	OMIM:619472
HP:0001560	Abnormality of the amniotic fluid	5167	ENPP1	ORPHA:51608
HP:0001560	Abnormality of the amniotic fluid	368	ABCC6	ORPHA:51608
HP:0001560	Abnormality of the amniotic fluid	1387	CREBBP	OMIM:180849
HP:0001560	Abnormality of the amniotic fluid	1387	CREBBP	ORPHA:353277
HP:0001560	Abnormality of the amniotic fluid	1861	TOR1A	OMIM:618947
HP:0001560	Abnormality of the amniotic fluid	8405	SPOP	OMIM:618829
HP:0001560	Abnormality of the amniotic fluid	9935	MAFB	ORPHA:2774
HP:0001560	Abnormality of the amniotic fluid	526	ATP6V1B2	ORPHA:79500
HP:0001560	Abnormality of the amniotic fluid	57465	TBC1D24	ORPHA:79500
HP:0001560	Abnormality of the amniotic fluid	10653	SPINT2	OMIM:270420
HP:0001560	Abnormality of the amniotic fluid	1457	CSNK2A1	OMIM:617062
HP:0001560	Abnormality of the amniotic fluid	2077	ERF	OMIM:617180
HP:0001560	Abnormality of the amniotic fluid	8567	MADD	OMIM:619004
HP:0001560	Abnormality of the amniotic fluid	374879	ZNF699	OMIM:619488
HP:0001560	Abnormality of the amniotic fluid	55640	FLVCR2	OMIM:225790
HP:0001560	Abnormality of the amniotic fluid	9508	ADAMTS3	OMIM:618154
HP:0001560	Abnormality of the amniotic fluid	10293	TRAIP	OMIM:616777
HP:0001560	Abnormality of the amniotic fluid	202018	TAPT1	OMIM:616897
HP:0001560	Abnormality of the amniotic fluid	60482	SLC5A7	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	4649	MYO9A	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	1305	COL13A1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	1103	CHAT	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6576	SLC25A1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6843	VAMP1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	375790	AGRN	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	127833	SYT2	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6616	SNAP25	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	5500	PPP1CB	OMIM:617506
HP:0001560	Abnormality of the amniotic fluid	7291	TWIST1	OMIM:617746
HP:0001560	Abnormality of the amniotic fluid	3090	HIC1	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	7531	YWHAE	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	342035	GLDN	OMIM:617194
HP:0001560	Abnormality of the amniotic fluid	10577	NPC2	OMIM:607625
HP:0001560	Abnormality of the amniotic fluid	200205	IBA57	OMIM:615330
HP:0001560	Abnormality of the amniotic fluid	9786	KIAA0586	OMIM:616546
HP:0001560	Abnormality of the amniotic fluid	51780	KDM3B	OMIM:618846
HP:0001560	Abnormality of the amniotic fluid	4000	LMNA	ORPHA:1662
HP:0001560	Abnormality of the amniotic fluid	5297	PI4KA	ORPHA:436252
HP:0001560	Abnormality of the amniotic fluid	55005	RMND1	OMIM:614922
HP:0001560	Abnormality of the amniotic fluid	3295	HSD17B4	OMIM:261515
HP:0001560	Abnormality of the amniotic fluid	10225	CD96	ORPHA:1308
HP:0001560	Abnormality of the amniotic fluid	1302	COL11A2	ORPHA:1427
HP:0001560	Abnormality of the amniotic fluid	219844	HYLS1	OMIM:236680
HP:0001560	Abnormality of the amniotic fluid	219844	HYLS1	ORPHA:2189
HP:0001560	Abnormality of the amniotic fluid	3239	HOXD13	ORPHA:887
HP:0001560	Abnormality of the amniotic fluid	23299	BICD2	OMIM:618291
HP:0001560	Abnormality of the amniotic fluid	51626	DYNC2LI1	OMIM:617088
HP:0001560	Abnormality of the amniotic fluid	115286	SLC25A26	OMIM:616794
HP:0001560	Abnormality of the amniotic fluid	221692	PHACTR1	OMIM:618298
HP:0001560	Abnormality of the amniotic fluid	374654	KIF7	ORPHA:2189
HP:0001560	Abnormality of the amniotic fluid	29969	MDFIC	OMIM:620014
HP:0001560	Abnormality of the amniotic fluid	2737	GLI3	ORPHA:672
HP:0001560	Abnormality of the amniotic fluid	3651	PDX1	OMIM:260370
HP:0001560	Abnormality of the amniotic fluid	3376	IARS1	OMIM:617093
HP:0001560	Abnormality of the amniotic fluid	3376	IARS1	ORPHA:541423
HP:0001560	Abnormality of the amniotic fluid	5076	PAX2	ORPHA:97362
HP:0001560	Abnormality of the amniotic fluid	5087	PBX1	ORPHA:97362
HP:0001560	Abnormality of the amniotic fluid	5087	PBX1	OMIM:617641
HP:0001560	Abnormality of the amniotic fluid	4621	MYH3	ORPHA:2053
HP:0001560	Abnormality of the amniotic fluid	4621	MYH3	OMIM:193700
HP:0001560	Abnormality of the amniotic fluid	259232	NALCN	ORPHA:2053
HP:0001560	Abnormality of the amniotic fluid	29925	GMPPB	OMIM:615350
HP:0001560	Abnormality of the amniotic fluid	10466	COG5	ORPHA:263487
HP:0001560	Abnormality of the amniotic fluid	1832	DSP	ORPHA:158687
HP:0001560	Abnormality of the amniotic fluid	3728	JUP	ORPHA:158687
HP:0001560	Abnormality of the amniotic fluid	4638	MYLK	OMIM:249210
HP:0001560	Abnormality of the amniotic fluid	5393	EXOSC9	OMIM:618065
HP:0001560	Abnormality of the amniotic fluid	1859	DYRK1A	ORPHA:268261
HP:0001560	Abnormality of the amniotic fluid	1859	DYRK1A	ORPHA:464311
HP:0001560	Abnormality of the amniotic fluid	60529	ALX4	OMIM:613451
HP:0001560	Abnormality of the amniotic fluid	60529	ALX4	ORPHA:228390
HP:0001560	Abnormality of the amniotic fluid	72	ACTG2	OMIM:619431
HP:0001560	Abnormality of the amniotic fluid	7167	TPI1	OMIM:615512
HP:0001560	Abnormality of the amniotic fluid	100151683	RNU4ATAC	OMIM:210710
HP:0001560	Abnormality of the amniotic fluid	23334	SZT2	OMIM:615476
HP:0001560	Abnormality of the amniotic fluid	25821	MTO1	OMIM:614702
HP:0001560	Abnormality of the amniotic fluid	84942	WDR73	OMIM:251300
HP:0001560	Abnormality of the amniotic fluid	1131	CHRM3	ORPHA:2970
HP:0001560	Abnormality of the amniotic fluid	1131	CHRM3	OMIM:100100
HP:0001560	Abnormality of the amniotic fluid	7681	MKRN3	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	3653	IPW	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	54551	MAGEL2	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	791114	PWRN1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	100033413	SNORD116-1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	8924	HERC2	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	145624	PWAR1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	23742	NPAP1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	338433	SNORD115-1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	183	AGT	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	5972	REN	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	185	AGTR1	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	1636	ACE	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	ORPHA:231144
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	OMIM:616489
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	283120	H19	ORPHA:231144
HP:0001560	Abnormality of the amniotic fluid	91754	NEK9	OMIM:617022
HP:0001560	Abnormality of the amniotic fluid	54968	TMEM70	ORPHA:1194
HP:0001560	Abnormality of the amniotic fluid	54968	TMEM70	OMIM:614052
HP:0001560	Abnormality of the amniotic fluid	23395	LARS2	OMIM:617021
HP:0001560	Abnormality of the amniotic fluid	9871	SEC24D	OMIM:616294
HP:0001560	Abnormality of the amniotic fluid	9578	CDC42BPB	OMIM:619841
HP:0001560	Abnormality of the amniotic fluid	3313	HSPA9	OMIM:616854
HP:0001560	Abnormality of the amniotic fluid	10229	COQ7	OMIM:616733
HP:0001560	Abnormality of the amniotic fluid	23426	GRIP1	OMIM:617667
HP:0001560	Abnormality of the amniotic fluid	341640	FREM2	OMIM:617666
HP:0001560	Abnormality of the amniotic fluid	30008	EFEMP2	OMIM:614437
HP:0001560	Abnormality of the amniotic fluid	55152	DALRD3	OMIM:618910
HP:0001560	Abnormality of the amniotic fluid	5979	RET	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	5979	RET	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	429	ASCL1	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	8929	PHOX2B	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	79158	GNPTAB	ORPHA:576
HP:0001560	Abnormality of the amniotic fluid	1725	DHPS	OMIM:618480
HP:0001560	Abnormality of the amniotic fluid	84987	COX14	OMIM:619053
HP:0001560	Abnormality of the amniotic fluid	84992	PIGY	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	84720	PIGO	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	93210	PGAP3	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	284098	PIGW	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	27315	PGAP2	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	55650	PIGV	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	9487	PIGL	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	9739	SETD1A	OMIM:619056
HP:0001560	Abnormality of the amniotic fluid	50619	DEF6	OMIM:619573
HP:0001560	Abnormality of the amniotic fluid	8260	NAA10	OMIM:300855
HP:0001560	Abnormality of the amniotic fluid	274	BIN1	OMIM:255200
HP:0001560	Abnormality of the amniotic fluid	93627	TBCK	OMIM:616900
HP:0001560	Abnormality of the amniotic fluid	93627	TBCK	ORPHA:488632
HP:0001560	Abnormality of the amniotic fluid	708	C1QBP	OMIM:617713
HP:0001560	Abnormality of the amniotic fluid	9325	TRIP4	OMIM:616866
HP:0001560	Abnormality of the amniotic fluid	284086	NEK8	OMIM:615415
HP:0001560	Abnormality of the amniotic fluid	672	BRCA1	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	10459	MAD2L2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	7516	XRCC2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	29089	UBE2T	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	675	BRCA2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55120	FANCL	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2177	FANCD2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2175	FANCA	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2187	FANCB	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2176	FANCC	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2178	FANCE	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2188	FANCF	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2189	FANCG	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	5888	RAD51	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	5889	RAD51C	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55159	RFWD3	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	83990	BRIP1	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	57697	FANCM	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	79728	PALB2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	84464	SLX4	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2072	ERCC4	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55215	FANCI	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	3913	LAMB2	OMIM:609049
HP:0001560	Abnormality of the amniotic fluid	22827	PUF60	ORPHA:508488
HP:0001560	Abnormality of the amniotic fluid	84314	TMEM107	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	26123	TCTN3	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	26123	TCTN3	ORPHA:2753
HP:0001560	Abnormality of the amniotic fluid	79867	TCTN2	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	80776	B9D2	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79600	TCTN1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	57096	RPGRIP1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79848	CSPP1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	80184	CEP290	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	51259	TMEM216	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	57545	CC2D2A	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79583	TMEM231	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79583	TMEM231	OMIM:615397
HP:0001560	Abnormality of the amniotic fluid	91147	TMEM67	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79770	TXNDC15	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79770	TXNDC15	OMIM:619879
HP:0001560	Abnormality of the amniotic fluid	27077	B9D1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	23322	RPGRIP1L	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	54903	MKS1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	54903	MKS1	OMIM:249000
HP:0001560	Abnormality of the amniotic fluid	65062	TMEM237	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	6045	RNF2	OMIM:619460
HP:0001560	Abnormality of the amniotic fluid	27031	NPHP3	OMIM:267010
HP:0001560	Abnormality of the amniotic fluid	27031	NPHP3	OMIM:208540
HP:0001560	Abnormality of the amniotic fluid	27031	NPHP3	ORPHA:3032
HP:0001560	Abnormality of the amniotic fluid	10087	CERT1	OMIM:616351
HP:0001560	Abnormality of the amniotic fluid	26276	VPS33B	OMIM:208085
HP:0001560	Abnormality of the amniotic fluid	1656	DDX6	OMIM:618653
HP:0001560	Abnormality of the amniotic fluid	3977	LIFR	OMIM:601559
HP:0001560	Abnormality of the amniotic fluid	3977	LIFR	ORPHA:3206
HP:0001560	Abnormality of the amniotic fluid	79796	ALG9	OMIM:263210
HP:0001560	Abnormality of the amniotic fluid	79796	ALG9	ORPHA:79328
HP:0001560	Abnormality of the amniotic fluid	1822	ATN1	OMIM:618494
HP:0001560	Abnormality of the amniotic fluid	4700	NDUFA6	OMIM:618253
HP:0001560	Abnormality of the amniotic fluid	84300	UQCC2	OMIM:615824
HP:0001560	Abnormality of the amniotic fluid	2783	GNB2	OMIM:619503
HP:0001560	Abnormality of the amniotic fluid	29980	DONSON	OMIM:617604
HP:0001560	Abnormality of the amniotic fluid	29980	DONSON	OMIM:251230
HP:0001560	Abnormality of the amniotic fluid	6304	SATB1	OMIM:619229
HP:0001560	Abnormality of the amniotic fluid	79053	ALG8	OMIM:608104
HP:0001560	Abnormality of the amniotic fluid	79053	ALG8	ORPHA:79325
HP:0001560	Abnormality of the amniotic fluid	6638	SNRPN	ORPHA:177907
HP:0001560	Abnormality of the amniotic fluid	55644	OSGEP	OMIM:617729
HP:0001560	Abnormality of the amniotic fluid	57572	DOCK6	OMIM:614219
HP:0001560	Abnormality of the amniotic fluid	2200	FBN1	OMIM:616914
HP:0001560	Abnormality of the amniotic fluid	27130	INVS	OMIM:602088
HP:0001560	Abnormality of the amniotic fluid	760	CA2	ORPHA:2785
HP:0001560	Abnormality of the amniotic fluid	3039	HBA1	ORPHA:163596
HP:0001560	Abnormality of the amniotic fluid	3040	HBA2	ORPHA:163596
HP:0001560	Abnormality of the amniotic fluid	8241	RBM10	OMIM:311900
HP:0001560	Abnormality of the amniotic fluid	9653	HS2ST1	OMIM:619194
HP:0001560	Abnormality of the amniotic fluid	253738	EBF3	OMIM:617330
HP:0001560	Abnormality of the amniotic fluid	5447	POR	OMIM:201750
HP:0001560	Abnormality of the amniotic fluid	3975	LHX1	ORPHA:261265
HP:0001560	Abnormality of the amniotic fluid	6928	HNF1B	ORPHA:261265
HP:0001560	Abnormality of the amniotic fluid	5977	DPF2	OMIM:618027
HP:0001560	Abnormality of the amniotic fluid	57061	HYMAI	ORPHA:96191
HP:0001560	Abnormality of the amniotic fluid	5325	PLAGL1	ORPHA:96191
HP:0001560	Abnormality of the amniotic fluid	4629	MYH11	OMIM:619351
HP:0001560	Abnormality of the amniotic fluid	5314	PKHD1	OMIM:263200
HP:0001560	Abnormality of the amniotic fluid	5314	PKHD1	ORPHA:731
HP:0001560	Abnormality of the amniotic fluid	213	ALB	OMIM:616000
HP:0001560	Abnormality of the amniotic fluid	213	ALB	ORPHA:86816
HP:0001560	Abnormality of the amniotic fluid	29957	SLC25A24	OMIM:612289
HP:0001560	Abnormality of the amniotic fluid	2627	GATA6	ORPHA:2255
HP:0001560	Abnormality of the amniotic fluid	8087	FXR1	OMIM:618822
HP:0001560	Abnormality of the amniotic fluid	8087	FXR1	OMIM:618823
HP:0001560	Abnormality of the amniotic fluid	54796	BNC2	ORPHA:93110
HP:0001560	Abnormality of the amniotic fluid	8516	ITGA8	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	8516	ITGA8	OMIM:191830
HP:0001560	Abnormality of the amniotic fluid	26281	FGF20	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	2674	GFRA1	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	7484	WNT9B	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	80000	GREB1L	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	10056	FARSB	OMIM:613658
HP:0001560	Abnormality of the amniotic fluid	55165	CEP55	OMIM:236500
HP:0001560	Abnormality of the amniotic fluid	51360	MBTPS2	OMIM:308205
HP:0001560	Abnormality of the amniotic fluid	3636	INPPL1	OMIM:258480
HP:0001560	Abnormality of the amniotic fluid	10398	MYL9	OMIM:619365
HP:0001560	Abnormality of the amniotic fluid	1028	CDKN1C	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	5324	PLAG1	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	8091	HMGA2	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	9928	KIF14	OMIM:616258
HP:0001560	Abnormality of the amniotic fluid	64135	IFIH1	OMIM:615846
HP:0001560	Abnormality of the amniotic fluid	118924	FRA10AC1	OMIM:620113
HP:0001560	Abnormality of the amniotic fluid	199221	DZIP1L	ORPHA:731
HP:0001560	Abnormality of the amniotic fluid	139285	AMER1	OMIM:300373
HP:0001560	Abnormality of the amniotic fluid	1376	CPT2	OMIM:608836
HP:0001560	Abnormality of the amniotic fluid	126792	B3GALT6	ORPHA:536467
HP:0001560	Abnormality of the amniotic fluid	57107	PDSS2	ORPHA:255249
HP:0001560	Abnormality of the amniotic fluid	27235	COQ2	ORPHA:255249
HP:0001560	Abnormality of the amniotic fluid	7355	SLC35A2	OMIM:300896
HP:0001560	Abnormality of the amniotic fluid	8218	CLTCL1	ORPHA:453510
HP:0001560	Abnormality of the amniotic fluid	2193	FARSA	OMIM:619013
HP:0001560	Abnormality of the amniotic fluid	119559	SFXN4	OMIM:615578
HP:0001560	Abnormality of the amniotic fluid	55681	SCYL2	ORPHA:1143
HP:0001560	Abnormality of the amniotic fluid	84570	COL25A1	ORPHA:1143
HP:0001560	Abnormality of the amniotic fluid	57222	ERGIC1	ORPHA:1143
HP:0001560	Abnormality of the amniotic fluid	10269	ZMPSTE24	OMIM:275210
HP:0001560	Abnormality of the amniotic fluid	54361	WNT4	OMIM:611812
HP:0001560	Abnormality of the amniotic fluid	54361	WNT4	ORPHA:139466
HP:0001560	Abnormality of the amniotic fluid	701	BUB1B	OMIM:257300
HP:0001560	Abnormality of the amniotic fluid	10516	FBLN5	OMIM:219100
HP:0001560	Abnormality of the amniotic fluid	529	ATP6V1E1	OMIM:617402
HP:0001560	Abnormality of the amniotic fluid	7319	UBE2A	ORPHA:163956
HP:0001560	Abnormality of the amniotic fluid	4713	NDUFB7	OMIM:620135
HP:0001560	Abnormality of the amniotic fluid	6888	TALDO1	OMIM:606003
HP:0001560	Abnormality of the amniotic fluid	6005	RHAG	ORPHA:71275
HP:0001560	Abnormality of the amniotic fluid	6006	RHCE	ORPHA:71275
HP:0001560	Abnormality of the amniotic fluid	6007	RHD	ORPHA:71275
HP:0001560	Abnormality of the amniotic fluid	168667	BMPER	OMIM:608022
HP:0001560	Abnormality of the amniotic fluid	23394	ADNP	OMIM:615873
HP:0001560	Abnormality of the amniotic fluid	9152	SLC6A5	OMIM:614618
HP:0001560	Abnormality of the amniotic fluid	501	ALDH7A1	ORPHA:3006
HP:0001560	Abnormality of the amniotic fluid	11212	PLPBP	ORPHA:3006
HP:0001560	Abnormality of the amniotic fluid	5205	ATP8B1	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	8647	ABCB11	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	5244	ABCB4	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	9971	NR1H4	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	55023	PHIP	OMIM:617991
HP:0001562	Oligohydramnios	2737	GLI3	ORPHA:672
HP:0001562	Oligohydramnios	3651	PDX1	OMIM:260370
HP:0001562	Oligohydramnios	3376	IARS1	OMIM:617093
HP:0001562	Oligohydramnios	3376	IARS1	ORPHA:541423
HP:0001562	Oligohydramnios	5076	PAX2	ORPHA:97362
HP:0001562	Oligohydramnios	5087	PBX1	ORPHA:97362
HP:0001562	Oligohydramnios	5087	PBX1	OMIM:617641
HP:0001562	Oligohydramnios	4621	MYH3	ORPHA:2053
HP:0001562	Oligohydramnios	4621	MYH3	OMIM:193700
HP:0001562	Oligohydramnios	259232	NALCN	ORPHA:2053
HP:0001562	Oligohydramnios	29925	GMPPB	OMIM:615350
HP:0001562	Oligohydramnios	10466	COG5	ORPHA:263487
HP:0001562	Oligohydramnios	1832	DSP	ORPHA:158687
HP:0001562	Oligohydramnios	3728	JUP	ORPHA:158687
HP:0001562	Oligohydramnios	4638	MYLK	OMIM:249210
HP:0001562	Oligohydramnios	5393	EXOSC9	OMIM:618065
HP:0001562	Oligohydramnios	1859	DYRK1A	ORPHA:268261
HP:0001562	Oligohydramnios	1859	DYRK1A	ORPHA:464311
HP:0001562	Oligohydramnios	60529	ALX4	OMIM:613451
HP:0001562	Oligohydramnios	60529	ALX4	ORPHA:228390
HP:0001562	Oligohydramnios	72	ACTG2	OMIM:619431
HP:0001562	Oligohydramnios	7167	TPI1	OMIM:615512
HP:0001562	Oligohydramnios	100151683	RNU4ATAC	OMIM:210710
HP:0001562	Oligohydramnios	23334	SZT2	OMIM:615476
HP:0001562	Oligohydramnios	25821	MTO1	OMIM:614702
HP:0001562	Oligohydramnios	84942	WDR73	OMIM:251300
HP:0001562	Oligohydramnios	1131	CHRM3	ORPHA:2970
HP:0001562	Oligohydramnios	1131	CHRM3	OMIM:100100
HP:0001562	Oligohydramnios	7681	MKRN3	OMIM:176270
HP:0001562	Oligohydramnios	3653	IPW	OMIM:176270
HP:0001562	Oligohydramnios	54551	MAGEL2	OMIM:176270
HP:0001562	Oligohydramnios	791114	PWRN1	OMIM:176270
HP:0001562	Oligohydramnios	100033413	SNORD116-1	OMIM:176270
HP:0001562	Oligohydramnios	8924	HERC2	OMIM:176270
HP:0001562	Oligohydramnios	145624	PWAR1	OMIM:176270
HP:0001562	Oligohydramnios	23742	NPAP1	OMIM:176270
HP:0001562	Oligohydramnios	338433	SNORD115-1	OMIM:176270
HP:0001562	Oligohydramnios	183	AGT	OMIM:267430
HP:0001562	Oligohydramnios	5972	REN	OMIM:267430
HP:0001562	Oligohydramnios	185	AGTR1	OMIM:267430
HP:0001562	Oligohydramnios	1636	ACE	OMIM:267430
HP:0001562	Oligohydramnios	3481	IGF2	ORPHA:231144
HP:0001562	Oligohydramnios	3481	IGF2	OMIM:616489
HP:0001562	Oligohydramnios	3481	IGF2	ORPHA:397590
HP:0001562	Oligohydramnios	283120	H19	ORPHA:231144
HP:0001562	Oligohydramnios	91754	NEK9	OMIM:617022
HP:0001562	Oligohydramnios	54968	TMEM70	ORPHA:1194
HP:0001562	Oligohydramnios	54968	TMEM70	OMIM:614052
HP:0001562	Oligohydramnios	23395	LARS2	OMIM:617021
HP:0001562	Oligohydramnios	9871	SEC24D	OMIM:616294
HP:0001562	Oligohydramnios	9578	CDC42BPB	OMIM:619841
HP:0001562	Oligohydramnios	3313	HSPA9	OMIM:616854
HP:0001562	Oligohydramnios	10229	COQ7	OMIM:616733
HP:0001562	Oligohydramnios	23426	GRIP1	OMIM:617667
HP:0001562	Oligohydramnios	341640	FREM2	OMIM:617666
HP:0001562	Oligohydramnios	30008	EFEMP2	OMIM:614437
HP:0001562	Oligohydramnios	55152	DALRD3	OMIM:618910
HP:0001562	Oligohydramnios	5979	RET	ORPHA:99803
HP:0001562	Oligohydramnios	5979	RET	ORPHA:1848
HP:0001562	Oligohydramnios	429	ASCL1	ORPHA:99803
HP:0001562	Oligohydramnios	8929	PHOX2B	ORPHA:99803
HP:0001562	Oligohydramnios	79158	GNPTAB	ORPHA:576
HP:0001562	Oligohydramnios	1725	DHPS	OMIM:618480
HP:0001562	Oligohydramnios	84987	COX14	OMIM:619053
HP:0001562	Oligohydramnios	84992	PIGY	ORPHA:247262
HP:0001562	Oligohydramnios	84720	PIGO	ORPHA:247262
HP:0001562	Oligohydramnios	93210	PGAP3	ORPHA:247262
HP:0001562	Oligohydramnios	284098	PIGW	ORPHA:247262
HP:0001562	Oligohydramnios	27315	PGAP2	ORPHA:247262
HP:0001562	Oligohydramnios	55650	PIGV	ORPHA:247262
HP:0001562	Oligohydramnios	9487	PIGL	ORPHA:247262
HP:0001562	Oligohydramnios	9739	SETD1A	OMIM:619056
HP:0001562	Oligohydramnios	50619	DEF6	OMIM:619573
HP:0001562	Oligohydramnios	8260	NAA10	OMIM:300855
HP:0001562	Oligohydramnios	274	BIN1	OMIM:255200
HP:0001562	Oligohydramnios	93627	TBCK	OMIM:616900
HP:0001562	Oligohydramnios	93627	TBCK	ORPHA:488632
HP:0001562	Oligohydramnios	708	C1QBP	OMIM:617713
HP:0001562	Oligohydramnios	9325	TRIP4	OMIM:616866
HP:0001562	Oligohydramnios	284086	NEK8	OMIM:615415
HP:0001562	Oligohydramnios	672	BRCA1	ORPHA:84
HP:0001562	Oligohydramnios	10459	MAD2L2	ORPHA:84
HP:0001562	Oligohydramnios	7516	XRCC2	ORPHA:84
HP:0001562	Oligohydramnios	29089	UBE2T	ORPHA:84
HP:0001562	Oligohydramnios	675	BRCA2	ORPHA:84
HP:0001562	Oligohydramnios	55120	FANCL	ORPHA:84
HP:0001562	Oligohydramnios	2177	FANCD2	ORPHA:84
HP:0001562	Oligohydramnios	2175	FANCA	ORPHA:84
HP:0001562	Oligohydramnios	2187	FANCB	ORPHA:84
HP:0001562	Oligohydramnios	2176	FANCC	ORPHA:84
HP:0001562	Oligohydramnios	2178	FANCE	ORPHA:84
HP:0001562	Oligohydramnios	2188	FANCF	ORPHA:84
HP:0001562	Oligohydramnios	2189	FANCG	ORPHA:84
HP:0001562	Oligohydramnios	5888	RAD51	ORPHA:84
HP:0001562	Oligohydramnios	5889	RAD51C	ORPHA:84
HP:0001562	Oligohydramnios	55159	RFWD3	ORPHA:84
HP:0001562	Oligohydramnios	83990	BRIP1	ORPHA:84
HP:0001562	Oligohydramnios	57697	FANCM	ORPHA:84
HP:0001562	Oligohydramnios	79728	PALB2	ORPHA:84
HP:0001562	Oligohydramnios	84464	SLX4	ORPHA:84
HP:0001562	Oligohydramnios	2072	ERCC4	ORPHA:84
HP:0001562	Oligohydramnios	55215	FANCI	ORPHA:84
HP:0001562	Oligohydramnios	3913	LAMB2	OMIM:609049
HP:0001562	Oligohydramnios	22827	PUF60	ORPHA:508488
HP:0001562	Oligohydramnios	84314	TMEM107	ORPHA:564
HP:0001562	Oligohydramnios	26123	TCTN3	ORPHA:564
HP:0001562	Oligohydramnios	26123	TCTN3	ORPHA:2753
HP:0001562	Oligohydramnios	79867	TCTN2	ORPHA:564
HP:0001562	Oligohydramnios	80776	B9D2	ORPHA:564
HP:0001562	Oligohydramnios	79600	TCTN1	ORPHA:564
HP:0001562	Oligohydramnios	57096	RPGRIP1	ORPHA:564
HP:0001562	Oligohydramnios	79848	CSPP1	ORPHA:564
HP:0001562	Oligohydramnios	80184	CEP290	ORPHA:564
HP:0001562	Oligohydramnios	51259	TMEM216	ORPHA:564
HP:0001562	Oligohydramnios	57545	CC2D2A	ORPHA:564
HP:0001562	Oligohydramnios	79583	TMEM231	ORPHA:564
HP:0001562	Oligohydramnios	79583	TMEM231	OMIM:615397
HP:0001562	Oligohydramnios	91147	TMEM67	ORPHA:564
HP:0001562	Oligohydramnios	79770	TXNDC15	ORPHA:564
HP:0001562	Oligohydramnios	79770	TXNDC15	OMIM:619879
HP:0001562	Oligohydramnios	27077	B9D1	ORPHA:564
HP:0001562	Oligohydramnios	23322	RPGRIP1L	ORPHA:564
HP:0001562	Oligohydramnios	54903	MKS1	ORPHA:564
HP:0001562	Oligohydramnios	54903	MKS1	OMIM:249000
HP:0001562	Oligohydramnios	65062	TMEM237	ORPHA:564
HP:0001562	Oligohydramnios	6045	RNF2	OMIM:619460
HP:0001562	Oligohydramnios	27031	NPHP3	OMIM:267010
HP:0001562	Oligohydramnios	27031	NPHP3	OMIM:208540
HP:0001562	Oligohydramnios	27031	NPHP3	ORPHA:3032
HP:0001562	Oligohydramnios	10087	CERT1	OMIM:616351
HP:0001562	Oligohydramnios	26276	VPS33B	OMIM:208085
HP:0001562	Oligohydramnios	1656	DDX6	OMIM:618653
HP:0001562	Oligohydramnios	3977	LIFR	OMIM:601559
HP:0001562	Oligohydramnios	3977	LIFR	ORPHA:3206
HP:0001562	Oligohydramnios	79796	ALG9	OMIM:263210
HP:0001562	Oligohydramnios	79796	ALG9	ORPHA:79328
HP:0001562	Oligohydramnios	1822	ATN1	OMIM:618494
HP:0001562	Oligohydramnios	4700	NDUFA6	OMIM:618253
HP:0001562	Oligohydramnios	84300	UQCC2	OMIM:615824
HP:0001562	Oligohydramnios	2783	GNB2	OMIM:619503
HP:0001562	Oligohydramnios	29980	DONSON	OMIM:617604
HP:0001562	Oligohydramnios	29980	DONSON	OMIM:251230
HP:0001562	Oligohydramnios	6304	SATB1	OMIM:619229
HP:0001562	Oligohydramnios	79053	ALG8	OMIM:608104
HP:0001562	Oligohydramnios	79053	ALG8	ORPHA:79325
HP:0001562	Oligohydramnios	6638	SNRPN	ORPHA:177907
HP:0001562	Oligohydramnios	55644	OSGEP	OMIM:617729
HP:0001562	Oligohydramnios	57572	DOCK6	OMIM:614219
HP:0001562	Oligohydramnios	2200	FBN1	OMIM:616914
HP:0001562	Oligohydramnios	27130	INVS	OMIM:602088
HP:0001562	Oligohydramnios	760	CA2	ORPHA:2785
HP:0001562	Oligohydramnios	3039	HBA1	ORPHA:163596
HP:0001562	Oligohydramnios	3040	HBA2	ORPHA:163596
HP:0001562	Oligohydramnios	8241	RBM10	OMIM:311900
HP:0001562	Oligohydramnios	9653	HS2ST1	OMIM:619194
HP:0001562	Oligohydramnios	253738	EBF3	OMIM:617330
HP:0001562	Oligohydramnios	5447	POR	OMIM:201750
HP:0001562	Oligohydramnios	3975	LHX1	ORPHA:261265
HP:0001562	Oligohydramnios	6928	HNF1B	ORPHA:261265
HP:0001562	Oligohydramnios	5977	DPF2	OMIM:618027
HP:0001562	Oligohydramnios	57061	HYMAI	ORPHA:96191
HP:0001562	Oligohydramnios	5325	PLAGL1	ORPHA:96191
HP:0001562	Oligohydramnios	4629	MYH11	OMIM:619351
HP:0001562	Oligohydramnios	5314	PKHD1	OMIM:263200
HP:0001562	Oligohydramnios	5314	PKHD1	ORPHA:731
HP:0001562	Oligohydramnios	213	ALB	OMIM:616000
HP:0001562	Oligohydramnios	213	ALB	ORPHA:86816
HP:0001562	Oligohydramnios	29957	SLC25A24	OMIM:612289
HP:0001562	Oligohydramnios	2627	GATA6	ORPHA:2255
HP:0001562	Oligohydramnios	8087	FXR1	OMIM:618822
HP:0001562	Oligohydramnios	8087	FXR1	OMIM:618823
HP:0001562	Oligohydramnios	54796	BNC2	ORPHA:93110
HP:0001562	Oligohydramnios	8516	ITGA8	ORPHA:1848
HP:0001562	Oligohydramnios	8516	ITGA8	OMIM:191830
HP:0001562	Oligohydramnios	26281	FGF20	ORPHA:1848
HP:0001562	Oligohydramnios	2674	GFRA1	ORPHA:1848
HP:0001562	Oligohydramnios	7484	WNT9B	ORPHA:1848
HP:0001562	Oligohydramnios	80000	GREB1L	ORPHA:1848
HP:0001562	Oligohydramnios	10056	FARSB	OMIM:613658
HP:0001562	Oligohydramnios	55165	CEP55	OMIM:236500
HP:0001562	Oligohydramnios	51360	MBTPS2	OMIM:308205
HP:0001562	Oligohydramnios	3636	INPPL1	OMIM:258480
HP:0001562	Oligohydramnios	10398	MYL9	OMIM:619365
HP:0001562	Oligohydramnios	1028	CDKN1C	ORPHA:397590
HP:0001562	Oligohydramnios	5324	PLAG1	ORPHA:397590
HP:0001562	Oligohydramnios	8091	HMGA2	ORPHA:397590
HP:0001562	Oligohydramnios	9928	KIF14	OMIM:616258
HP:0001562	Oligohydramnios	64135	IFIH1	OMIM:615846
HP:0001562	Oligohydramnios	118924	FRA10AC1	OMIM:620113
HP:0001562	Oligohydramnios	199221	DZIP1L	ORPHA:731
HP:0001562	Oligohydramnios	139285	AMER1	OMIM:300373
HP:0001562	Oligohydramnios	1376	CPT2	OMIM:608836
HP:0001562	Oligohydramnios	126792	B3GALT6	ORPHA:536467
HP:0001562	Oligohydramnios	57107	PDSS2	ORPHA:255249
HP:0001562	Oligohydramnios	27235	COQ2	ORPHA:255249
HP:0001562	Oligohydramnios	7355	SLC35A2	OMIM:300896
HP:0001562	Oligohydramnios	8218	CLTCL1	ORPHA:453510
HP:0001562	Oligohydramnios	2193	FARSA	OMIM:619013
HP:0001562	Oligohydramnios	119559	SFXN4	OMIM:615578
HP:0001562	Oligohydramnios	55681	SCYL2	ORPHA:1143
HP:0001562	Oligohydramnios	84570	COL25A1	ORPHA:1143
HP:0001562	Oligohydramnios	57222	ERGIC1	ORPHA:1143
HP:0001562	Oligohydramnios	10269	ZMPSTE24	OMIM:275210
HP:0001562	Oligohydramnios	54361	WNT4	OMIM:611812
HP:0001562	Oligohydramnios	54361	WNT4	ORPHA:139466
HP:0001562	Oligohydramnios	701	BUB1B	OMIM:257300
HP:0001562	Oligohydramnios	10516	FBLN5	OMIM:219100
HP:0001562	Oligohydramnios	529	ATP6V1E1	OMIM:617402
HP:0001562	Oligohydramnios	7319	UBE2A	ORPHA:163956
HP:0001562	Oligohydramnios	4713	NDUFB7	OMIM:620135
HP:0001562	Oligohydramnios	6888	TALDO1	OMIM:606003
HP:0001562	Oligohydramnios	6005	RHAG	ORPHA:71275
HP:0001562	Oligohydramnios	6006	RHCE	ORPHA:71275
HP:0001562	Oligohydramnios	6007	RHD	ORPHA:71275
HP:0001562	Oligohydramnios	168667	BMPER	OMIM:608022
HP:0001563	Fetal polyuria	10916	MAGED2	OMIM:300971
HP:0001563	Fetal polyuria	6557	SLC12A1	OMIM:601678
HP:0001563	Fetal polyuria	1187	CLCNKA	OMIM:613090
HP:0001563	Fetal polyuria	1188	CLCNKB	OMIM:613090
HP:0001563	Fetal polyuria	7809	BSND	OMIM:602522
HP:0001563	Fetal polyuria	5979	RET	ORPHA:1848
HP:0001563	Fetal polyuria	8516	ITGA8	ORPHA:1848
HP:0001563	Fetal polyuria	26281	FGF20	ORPHA:1848
HP:0001563	Fetal polyuria	2674	GFRA1	ORPHA:1848
HP:0001563	Fetal polyuria	7484	WNT9B	ORPHA:1848
HP:0001563	Fetal polyuria	80000	GREB1L	ORPHA:1848
HP:0001563	Fetal polyuria	3758	KCNJ1	OMIM:241200
HP:0008726	Hypoplasia of the vagina	1528	CYB5A	ORPHA:90796
HP:0008726	Hypoplasia of the vagina	1586	CYP17A1	ORPHA:90796
HP:0008726	Hypoplasia of the vagina	54361	WNT4	ORPHA:3109
HP:0008726	Hypoplasia of the vagina	6662	SOX9	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	6845	VAMP7	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	51741	WWOX	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	4214	MAP3K1	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	2516	NR5A1	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	7490	WT1	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	58524	DMRT3	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	57647	DHX37	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	6736	SRY	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	23414	ZFPM2	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	190	NR0B1	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	2626	GATA4	ORPHA:251510
HP:0008726	Hypoplasia of the vagina	1584	CYP11B1	OMIM:202010
HP:0008726	Hypoplasia of the vagina	3664	IRF6	OMIM:119500
HP:0008726	Hypoplasia of the vagina	145173	B3GLCT	OMIM:261540
HP:0008729	Absence of labia majora	1146	CHRNG	OMIM:265000
HP:0008729	Absence of labia majora	1146	CHRNG	ORPHA:2990
HP:0008729	Absence of labia majora	4621	MYH3	ORPHA:2990
HP:0011780	Thyroid hemiagenesis	7080	NKX2-1	ORPHA:209905
HP:0011781	Thyroid C cell hyperplasia	5979	RET	OMIM:171400
HP:0011781	Thyroid C cell hyperplasia	54539	NDUFB11	OMIM:300952
HP:0011782	Thyroid crisis	64072	CDH23	ORPHA:91347
HP:0011788	Increased circulating free T3	7253	TSHR	OMIM:609152
HP:0011788	Increased circulating free T3	7068	THRB	OMIM:188570
HP:0011788	Increased circulating free T3	7234	TRU-TCA1-1	OMIM:620198
HP:0011789	Impaired sensitivity to thyroid stimulating hormone	7253	TSHR	ORPHA:99819
HP:0011789	Impaired sensitivity to thyroid stimulating hormone	7253	TSHR	ORPHA:424
HP:0011784	Thyrotoxicosis with diffuse goiter	7253	TSHR	ORPHA:99819
HP:0011784	Thyrotoxicosis with diffuse goiter	7253	TSHR	ORPHA:424
HP:0011784	Thyrotoxicosis with diffuse goiter	100134444	KCNJ18	ORPHA:79102
HP:0011784	Thyrotoxicosis with diffuse goiter	2556	GABRA3	ORPHA:79102
HP:0011784	Thyrotoxicosis with diffuse goiter	779	CACNA1S	ORPHA:79102
HP:0011784	Thyrotoxicosis with diffuse goiter	1188	CLCNKB	ORPHA:358
HP:0011784	Thyrotoxicosis with diffuse goiter	6559	SLC12A3	ORPHA:358
HP:0011785	Thyrotoxicosis with toxic multinodular goiter	100134444	KCNJ18	ORPHA:79102
HP:0011785	Thyrotoxicosis with toxic multinodular goiter	2556	GABRA3	ORPHA:79102
HP:0011785	Thyrotoxicosis with toxic multinodular goiter	779	CACNA1S	ORPHA:79102
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	100134444	KCNJ18	ORPHA:79102
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	2556	GABRA3	ORPHA:79102
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	779	CACNA1S	ORPHA:79102
HP:0011787	Central hypothyroidism	7200	TRH	OMIM:275120
HP:0011787	Central hypothyroidism	2737	GLI3	ORPHA:672
HP:0011787	Central hypothyroidism	55131	RBM28	ORPHA:157954
HP:0011787	Central hypothyroidism	5626	PROP1	ORPHA:226307
HP:0011787	Central hypothyroidism	5626	PROP1	ORPHA:95494
HP:0011787	Central hypothyroidism	5626	PROP1	ORPHA:90695
HP:0011787	Central hypothyroidism	89884	LHX4	ORPHA:226307
HP:0011787	Central hypothyroidism	89884	LHX4	ORPHA:95494
HP:0011787	Central hypothyroidism	8022	LHX3	ORPHA:226307
HP:0011787	Central hypothyroidism	8022	LHX3	ORPHA:231720
HP:0011787	Central hypothyroidism	5449	POU1F1	ORPHA:226307
HP:0011787	Central hypothyroidism	5449	POU1F1	ORPHA:95494
HP:0011787	Central hypothyroidism	8820	HESX1	ORPHA:226307
HP:0011787	Central hypothyroidism	8820	HESX1	ORPHA:95494
HP:0011787	Central hypothyroidism	5122	PCSK1	ORPHA:71528
HP:0011787	Central hypothyroidism	3953	LEPR	OMIM:614963
HP:0011787	Central hypothyroidism	3953	LEPR	ORPHA:179494
HP:0011787	Central hypothyroidism	8314	BAP1	ORPHA:2495
HP:0011787	Central hypothyroidism	4771	NF2	ORPHA:2495
HP:0011787	Central hypothyroidism	6598	SMARCB1	ORPHA:2495
HP:0011787	Central hypothyroidism	5155	PDGFB	ORPHA:2495
HP:0011787	Central hypothyroidism	84231	TRAF7	ORPHA:2495
HP:0011787	Central hypothyroidism	6608	SMO	ORPHA:2495
HP:0011787	Central hypothyroidism	207	AKT1	ORPHA:2495
HP:0011787	Central hypothyroidism	5290	PIK3CA	ORPHA:2495
HP:0011787	Central hypothyroidism	7015	TERT	ORPHA:2495
HP:0011787	Central hypothyroidism	51684	SUFU	ORPHA:2495
HP:0011787	Central hypothyroidism	6605	SMARCE1	ORPHA:2495
HP:0011787	Central hypothyroidism	5443	POMC	ORPHA:71526
HP:0011787	Central hypothyroidism	91147	TMEM67	OMIM:602152
HP:0011787	Central hypothyroidism	7201	TRHR	ORPHA:99832
HP:0011787	Central hypothyroidism	2736	GLI2	ORPHA:95494
HP:0011787	Central hypothyroidism	3170	FOXA2	ORPHA:95494
HP:0011787	Central hypothyroidism	5015	OTX2	ORPHA:95494
HP:0011787	Central hypothyroidism	283987	HID1	OMIM:619983
HP:0011787	Central hypothyroidism	4221	MEN1	ORPHA:2965
HP:0011787	Central hypothyroidism	64072	CDH23	ORPHA:2965
HP:0011787	Central hypothyroidism	9049	AIP	ORPHA:2965
HP:0011787	Central hypothyroidism	3952	LEP	ORPHA:66628
HP:0011787	Central hypothyroidism	9915	ARNT2	OMIM:615926
HP:0011787	Central hypothyroidism	6658	SOX3	ORPHA:90695
HP:0011787	Central hypothyroidism	7252	TSHB	ORPHA:90674
HP:0011787	Central hypothyroidism	5456	POU3F4	ORPHA:1435
HP:0011787	Central hypothyroidism	1499	CTNNB1	ORPHA:54595
HP:0011787	Central hypothyroidism	673	BRAF	ORPHA:54595
HP:0011787	Central hypothyroidism	6638	SNRPN	ORPHA:177904
HP:0011787	Central hypothyroidism	6638	SNRPN	ORPHA:177901
HP:0011787	Central hypothyroidism	6638	SNRPN	ORPHA:98754
HP:0011787	Central hypothyroidism	4692	NDN	ORPHA:177904
HP:0011787	Central hypothyroidism	4692	NDN	ORPHA:177901
HP:0011787	Central hypothyroidism	4692	NDN	ORPHA:98754
HP:0011787	Central hypothyroidism	54551	MAGEL2	ORPHA:177904
HP:0011787	Central hypothyroidism	54551	MAGEL2	ORPHA:177901
HP:0011787	Central hypothyroidism	54551	MAGEL2	ORPHA:398069
HP:0011787	Central hypothyroidism	54551	MAGEL2	ORPHA:98754
HP:0011787	Central hypothyroidism	4948	OCA2	ORPHA:177904
HP:0011787	Central hypothyroidism	4948	OCA2	ORPHA:177901
HP:0011787	Central hypothyroidism	4948	OCA2	ORPHA:98754
HP:0011787	Central hypothyroidism	6134	RPL10	OMIM:300998
HP:0011787	Central hypothyroidism	340533	NEXMIF	OMIM:300912
HP:0011787	Central hypothyroidism	23247	KATNIP	OMIM:616784
HP:0011787	Central hypothyroidism	23312	DMXL2	ORPHA:453533
HP:0011787	Central hypothyroidism	23312	DMXL2	OMIM:616113
HP:0011787	Central hypothyroidism	2260	FGFR1	ORPHA:220386
HP:0011787	Central hypothyroidism	2260	FGFR1	ORPHA:93924
HP:0011787	Central hypothyroidism	28514	DLL1	ORPHA:220386
HP:0011787	Central hypothyroidism	28514	DLL1	ORPHA:93926
HP:0011787	Central hypothyroidism	28514	DLL1	ORPHA:93924
HP:0011787	Central hypothyroidism	28514	DLL1	ORPHA:93925
HP:0011787	Central hypothyroidism	10735	STAG2	ORPHA:220386
HP:0011787	Central hypothyroidism	10735	STAG2	ORPHA:93925
HP:0011787	Central hypothyroidism	2253	FGF8	ORPHA:220386
HP:0011787	Central hypothyroidism	2253	FGF8	ORPHA:93926
HP:0011787	Central hypothyroidism	2253	FGF8	ORPHA:93924
HP:0011787	Central hypothyroidism	2253	FGF8	ORPHA:93925
HP:0011787	Central hypothyroidism	8243	SMC1A	ORPHA:220386
HP:0011787	Central hypothyroidism	6496	SIX3	ORPHA:220386
HP:0011787	Central hypothyroidism	6496	SIX3	ORPHA:93926
HP:0011787	Central hypothyroidism	6496	SIX3	ORPHA:93924
HP:0011787	Central hypothyroidism	6496	SIX3	ORPHA:93925
HP:0011787	Central hypothyroidism	7050	TGIF1	ORPHA:220386
HP:0011787	Central hypothyroidism	7050	TGIF1	ORPHA:93926
HP:0011787	Central hypothyroidism	7050	TGIF1	ORPHA:93924
HP:0011787	Central hypothyroidism	7050	TGIF1	ORPHA:93925
HP:0011787	Central hypothyroidism	4838	NODAL	ORPHA:220386
HP:0011787	Central hypothyroidism	4838	NODAL	ORPHA:93926
HP:0011787	Central hypothyroidism	4838	NODAL	ORPHA:93924
HP:0011787	Central hypothyroidism	4838	NODAL	ORPHA:93925
HP:0011787	Central hypothyroidism	6469	SHH	ORPHA:220386
HP:0011787	Central hypothyroidism	6469	SHH	ORPHA:93926
HP:0011787	Central hypothyroidism	6469	SHH	ORPHA:93924
HP:0011787	Central hypothyroidism	6469	SHH	ORPHA:93925
HP:0011787	Central hypothyroidism	7546	ZIC2	ORPHA:220386
HP:0011787	Central hypothyroidism	7546	ZIC2	ORPHA:93926
HP:0011787	Central hypothyroidism	7546	ZIC2	ORPHA:93924
HP:0011787	Central hypothyroidism	7546	ZIC2	ORPHA:93925
HP:0011787	Central hypothyroidism	6491	STIL	ORPHA:220386
HP:0011787	Central hypothyroidism	6491	STIL	ORPHA:93926
HP:0011787	Central hypothyroidism	6491	STIL	ORPHA:93924
HP:0011787	Central hypothyroidism	6491	STIL	ORPHA:93925
HP:0011787	Central hypothyroidism	2619	GAS1	ORPHA:220386
HP:0011787	Central hypothyroidism	2619	GAS1	ORPHA:93926
HP:0011787	Central hypothyroidism	2619	GAS1	ORPHA:93924
HP:0011787	Central hypothyroidism	2619	GAS1	ORPHA:93925
HP:0011787	Central hypothyroidism	84976	DISP1	ORPHA:220386
HP:0011787	Central hypothyroidism	84976	DISP1	ORPHA:93926
HP:0011787	Central hypothyroidism	84976	DISP1	ORPHA:93924
HP:0011787	Central hypothyroidism	84976	DISP1	ORPHA:93925
HP:0011787	Central hypothyroidism	8928	FOXH1	ORPHA:220386
HP:0011787	Central hypothyroidism	8928	FOXH1	ORPHA:93926
HP:0011787	Central hypothyroidism	8928	FOXH1	ORPHA:93924
HP:0011787	Central hypothyroidism	8928	FOXH1	ORPHA:93925
HP:0011787	Central hypothyroidism	5727	PTCH1	ORPHA:220386
HP:0011787	Central hypothyroidism	5727	PTCH1	ORPHA:93926
HP:0011787	Central hypothyroidism	5727	PTCH1	ORPHA:93924
HP:0011787	Central hypothyroidism	5727	PTCH1	ORPHA:93925
HP:0011787	Central hypothyroidism	50937	CDON	ORPHA:220386
HP:0011787	Central hypothyroidism	50937	CDON	ORPHA:93926
HP:0011787	Central hypothyroidism	50937	CDON	ORPHA:93924
HP:0011787	Central hypothyroidism	50937	CDON	ORPHA:93925
HP:0011787	Central hypothyroidism	3643	INSR	ORPHA:508
HP:0011787	Central hypothyroidism	9451	EIF2AK3	ORPHA:1667
HP:0011787	Central hypothyroidism	8471	IRS4	OMIM:301035
HP:0011787	Central hypothyroidism	6907	TBL1X	OMIM:301033
HP:0011787	Central hypothyroidism	51199	NIN	OMIM:614851
HP:0011787	Central hypothyroidism	6492	SIM1	ORPHA:398079
HP:0011787	Central hypothyroidism	1363	CPE	OMIM:619326
HP:0011787	Central hypothyroidism	23007	PLCH1	ORPHA:93925
HP:0011787	Central hypothyroidism	26040	SETBP1	ORPHA:798
HP:0000009	Functional abnormality of the bladder	6772	STAT1	ORPHA:391487
HP:0000009	Functional abnormality of the bladder	10043	TOM1	ORPHA:391487
HP:0000009	Functional abnormality of the bladder	113189	CHST14	ORPHA:2953
HP:0000009	Functional abnormality of the bladder	29940	DSE	ORPHA:2953
HP:0000009	Functional abnormality of the bladder	91949	COG7	OMIM:608779
HP:0000009	Functional abnormality of the bladder	8504	PEX3	OMIM:617370
HP:0000009	Functional abnormality of the bladder	92935	MARS2	OMIM:611390
HP:0000009	Functional abnormality of the bladder	55823	VPS11	OMIM:616683
HP:0000009	Functional abnormality of the bladder	55823	VPS11	ORPHA:466934
HP:0000009	Functional abnormality of the bladder	6885	MAP3K7	OMIM:617137
HP:0000009	Functional abnormality of the bladder	400916	CHCHD10	OMIM:615911
HP:0000009	Functional abnormality of the bladder	493856	CISD2	OMIM:604928
HP:0000009	Functional abnormality of the bladder	51112	TRAPPC12	ORPHA:500144
HP:0000009	Functional abnormality of the bladder	51112	TRAPPC12	OMIM:617669
HP:0000009	Functional abnormality of the bladder	2782	GNB1	OMIM:616973
HP:0000009	Functional abnormality of the bladder	2050	EPHB4	ORPHA:137667
HP:0000009	Functional abnormality of the bladder	9915	ARNT2	OMIM:615926
HP:0000009	Functional abnormality of the bladder	5354	PLP1	ORPHA:280229
HP:0000009	Functional abnormality of the bladder	23499	MACF1	ORPHA:572013
HP:0000009	Functional abnormality of the bladder	387119	CEP85L	ORPHA:572013
HP:0000009	Functional abnormality of the bladder	1185	CLCN6	OMIM:619173
HP:0000009	Functional abnormality of the bladder	1136	CHRNA3	OMIM:191800
HP:0000009	Functional abnormality of the bladder	64834	ELOVL1	OMIM:618527
HP:0000009	Functional abnormality of the bladder	123263	MTFMT	OMIM:618248
HP:0000009	Functional abnormality of the bladder	2019	EN1	OMIM:619218
HP:0000009	Functional abnormality of the bladder	2697	GJA1	ORPHA:2710
HP:0000009	Functional abnormality of the bladder	2697	GJA1	OMIM:164200
HP:0000009	Functional abnormality of the bladder	7466	WFS1	OMIM:222300
HP:0000009	Functional abnormality of the bladder	3980	LIG3	OMIM:619780
HP:0000009	Functional abnormality of the bladder	25793	FBXO7	ORPHA:171695
HP:0000009	Functional abnormality of the bladder	6622	SNCA	ORPHA:171695
HP:0000009	Functional abnormality of the bladder	55331	ACER3	OMIM:617762
HP:0000009	Functional abnormality of the bladder	84667	HES7	OMIM:613686
HP:0000009	Functional abnormality of the bladder	93627	TBCK	ORPHA:488632
HP:0000009	Functional abnormality of the bladder	5498	PPOX	ORPHA:79473
HP:0000009	Functional abnormality of the bladder	23111	SPART	OMIM:275900
HP:0000009	Functional abnormality of the bladder	87178	PNPT1	ORPHA:101111
HP:0000009	Functional abnormality of the bladder	87178	PNPT1	OMIM:608703
HP:0000009	Functional abnormality of the bladder	65018	PINK1	OMIM:605909
HP:0000009	Functional abnormality of the bladder	478	ATP1A3	OMIM:601338
HP:0000009	Functional abnormality of the bladder	9442	MED27	OMIM:619286
HP:0000009	Functional abnormality of the bladder	27102	EIF2AK1	OMIM:618878
HP:0000009	Functional abnormality of the bladder	3839	KPNA3	ORPHA:171612
HP:0000009	Functional abnormality of the bladder	84842	HPDL	OMIM:619027
HP:0000009	Functional abnormality of the bladder	5297	PI4KA	OMIM:619621
HP:0000009	Functional abnormality of the bladder	65055	REEP1	OMIM:610250
HP:0000009	Functional abnormality of the bladder	2583	B4GALNT1	OMIM:609195
HP:0000009	Functional abnormality of the bladder	1200	TPP1	OMIM:609270
HP:0000009	Functional abnormality of the bladder	2783	GNB2	OMIM:619503
HP:0000009	Functional abnormality of the bladder	2747	GLUD2	OMIM:168600
HP:0000009	Functional abnormality of the bladder	126	ADH1C	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4137	MAPT	OMIM:168600
HP:0000009	Functional abnormality of the bladder	2629	GBA1	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4929	NR4A2	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4576	MT-TT	OMIM:168600
HP:0000009	Functional abnormality of the bladder	9627	SNCAIP	OMIM:168600
HP:0000009	Functional abnormality of the bladder	72	ACTG2	OMIM:155310
HP:0000009	Functional abnormality of the bladder	816	CAMK2B	OMIM:617799
HP:0000009	Functional abnormality of the bladder	1161	ERCC8	ORPHA:90324
HP:0000009	Functional abnormality of the bladder	2074	ERCC6	ORPHA:90324
HP:0000009	Functional abnormality of the bladder	5921	RASA1	ORPHA:90307
HP:0000009	Functional abnormality of the bladder	100134444	KCNJ18	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	2556	GABRA3	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	779	CACNA1S	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	3431	SP110	ORPHA:79124
HP:0000009	Functional abnormality of the bladder	7040	TGFB1	ORPHA:1328
HP:0000009	Functional abnormality of the bladder	5621	PRNP	OMIM:600072
HP:0000009	Functional abnormality of the bladder	2131	EXT1	ORPHA:321
HP:0000009	Functional abnormality of the bladder	2132	EXT2	ORPHA:321
HP:0000009	Functional abnormality of the bladder	3909	LAMA3	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	3918	LAMC2	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	3914	LAMB3	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	171023	ASXL1	ORPHA:97297
HP:0000009	Functional abnormality of the bladder	4665	NAB2	ORPHA:2126
HP:0000009	Functional abnormality of the bladder	6778	STAT6	ORPHA:2126
HP:0000009	Functional abnormality of the bladder	4001	LMNB1	ORPHA:99027
HP:0000009	Functional abnormality of the bladder	291	SLC25A4	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	5428	POLG	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	56652	TWNK	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	11232	POLG2	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	50484	RRM2B	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	8398	PLA2G6	OMIM:612953
HP:0000009	Functional abnormality of the bladder	1621	DBH	ORPHA:230
HP:0000009	Functional abnormality of the bladder	1621	DBH	OMIM:223360
HP:0000009	Functional abnormality of the bladder	353	APRT	ORPHA:976
HP:0000009	Functional abnormality of the bladder	55906	ZC4H2	OMIM:301041
HP:0000009	Functional abnormality of the bladder	6513	SLC2A1	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2562	GABRB3	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2554	GABRA1	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	8912	CACNA1H	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	8629	JRK	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2566	GABRG2	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	23394	ADNP	ORPHA:404448
HP:0000009	Functional abnormality of the bladder	9897	WASHC5	ORPHA:100989
HP:0000009	Functional abnormality of the bladder	9897	WASHC5	OMIM:603563
HP:0000009	Functional abnormality of the bladder	10466	COG5	ORPHA:263487
HP:0000009	Functional abnormality of the bladder	340533	NEXMIF	OMIM:300912
HP:0000009	Functional abnormality of the bladder	23345	SYNE1	ORPHA:88644
HP:0000009	Functional abnormality of the bladder	123606	NIPA1	ORPHA:100988
HP:0000009	Functional abnormality of the bladder	123606	NIPA1	OMIM:600363
HP:0000009	Functional abnormality of the bladder	23446	SLC44A1	OMIM:618868
HP:0000009	Functional abnormality of the bladder	59341	TRPV4	OMIM:606071
HP:0000009	Functional abnormality of the bladder	22880	MORC2	OMIM:616688
HP:0000009	Functional abnormality of the bladder	22880	MORC2	ORPHA:466768
HP:0000009	Functional abnormality of the bladder	57704	GBA2	ORPHA:352641
HP:0000009	Functional abnormality of the bladder	57704	GBA2	ORPHA:320391
HP:0000009	Functional abnormality of the bladder	57704	GBA2	OMIM:614409
HP:0000009	Functional abnormality of the bladder	1786	DNMT1	ORPHA:314404
HP:0000009	Functional abnormality of the bladder	4803	NGF	OMIM:608654
HP:0000009	Functional abnormality of the bladder	57216	VANGL2	OMIM:182940
HP:0000009	Functional abnormality of the bladder	6347	CCL2	OMIM:182940
HP:0000009	Functional abnormality of the bladder	81839	VANGL1	OMIM:182940
HP:0000009	Functional abnormality of the bladder	6862	TBXT	OMIM:182940
HP:0000009	Functional abnormality of the bladder	80199	FUZ	OMIM:182940
HP:0000009	Functional abnormality of the bladder	27235	COQ2	OMIM:146500
HP:0000009	Functional abnormality of the bladder	274	BIN1	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	64419	MTMR14	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	4618	MYF6	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	1785	DNM2	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	6261	RYR1	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	5660	PSAP	OMIM:249900
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309271
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309263
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309256
HP:0000009	Functional abnormality of the bladder	3074	HEXB	ORPHA:309162
HP:0000009	Functional abnormality of the bladder	3074	HEXB	OMIM:268800
HP:0000009	Functional abnormality of the bladder	10479	SLC9A6	OMIM:300243
HP:0000009	Functional abnormality of the bladder	81790	RNF170	OMIM:619686
HP:0000009	Functional abnormality of the bladder	25814	ATXN10	OMIM:603516
HP:0000009	Functional abnormality of the bladder	6311	ATXN2	OMIM:183090
HP:0000009	Functional abnormality of the bladder	6335	SCN9A	OMIM:243000
HP:0000009	Functional abnormality of the bladder	8878	SQSTM1	OMIM:617145
HP:0000009	Functional abnormality of the bladder	5610	EIF2AK2	OMIM:618877
HP:0000009	Functional abnormality of the bladder	128486	FITM2	OMIM:618635
HP:0000009	Functional abnormality of the bladder	2581	GALC	ORPHA:206448
HP:0000009	Functional abnormality of the bladder	3508	IGHMBP2	OMIM:604320
HP:0000009	Functional abnormality of the bladder	100996717	NOTCH2NLC	OMIM:603472
HP:0000009	Functional abnormality of the bladder	6904	TBCD	ORPHA:496641
HP:0000009	Functional abnormality of the bladder	6904	TBCD	OMIM:617193
HP:0000009	Functional abnormality of the bladder	90161	HS6ST2	OMIM:301025
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309271
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309263
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309256
HP:0000009	Functional abnormality of the bladder	410	ARSA	OMIM:250100
HP:0000009	Functional abnormality of the bladder	2590	GALNT2	OMIM:618885
HP:0000009	Functional abnormality of the bladder	5832	ALDH18A1	OMIM:616586
HP:0000009	Functional abnormality of the bladder	5832	ALDH18A1	OMIM:601162
HP:0000009	Functional abnormality of the bladder	5832	ALDH18A1	ORPHA:447753
HP:0000009	Functional abnormality of the bladder	215	ABCD1	ORPHA:139399
HP:0000009	Functional abnormality of the bladder	215	ABCD1	OMIM:300100
HP:0000009	Functional abnormality of the bladder	51319	RSRC1	OMIM:618402
HP:0000009	Functional abnormality of the bladder	54463	RETREG1	OMIM:613115
HP:0000009	Functional abnormality of the bladder	6575	SLC20A2	OMIM:213600
HP:0000009	Functional abnormality of the bladder	5155	PDGFB	OMIM:213600
HP:0000009	Functional abnormality of the bladder	5155	PDGFB	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	5159	PDGFRB	OMIM:213600
HP:0000009	Functional abnormality of the bladder	549	AUH	OMIM:250950
HP:0000009	Functional abnormality of the bladder	80208	SPG11	OMIM:602099
HP:0000009	Functional abnormality of the bladder	80208	SPG11	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	80208	SPG11	OMIM:604360
HP:0000009	Functional abnormality of the bladder	7276	TTR	OMIM:105210
HP:0000009	Functional abnormality of the bladder	823	CAPN1	OMIM:616907
HP:0000009	Functional abnormality of the bladder	10273	STUB1	OMIM:618093
HP:0000009	Functional abnormality of the bladder	2632	GBE1	ORPHA:206583
HP:0000009	Functional abnormality of the bladder	2632	GBE1	OMIM:263570
HP:0000009	Functional abnormality of the bladder	1137	CHRNA4	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1135	CHRNA2	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57010	CABP4	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1141	CHRNB2	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57582	KCNT1	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1392	CRH	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	9681	DEPDC5	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57531	HACE1	ORPHA:464282
HP:0000009	Functional abnormality of the bladder	9420	CYP7B1	OMIM:270800
HP:0000009	Functional abnormality of the bladder	6687	SPG7	OMIM:607259
HP:0000009	Functional abnormality of the bladder	26278	SACS	ORPHA:98
HP:0000009	Functional abnormality of the bladder	9839	ZEB2	ORPHA:261552
HP:0000009	Functional abnormality of the bladder	9839	ZEB2	ORPHA:261537
HP:0000009	Functional abnormality of the bladder	2332	FMR1	OMIM:300623
HP:0000009	Functional abnormality of the bladder	23400	ATP13A2	ORPHA:306674
HP:0000009	Functional abnormality of the bladder	9860	LRIG2	ORPHA:2704
HP:0000009	Functional abnormality of the bladder	60495	HPSE2	ORPHA:2704
HP:0000009	Functional abnormality of the bladder	9907	AP5Z1	OMIM:613647
HP:0000009	Functional abnormality of the bladder	9907	AP5Z1	ORPHA:306511
HP:0000009	Functional abnormality of the bladder	79152	FA2H	OMIM:612319
HP:0000009	Functional abnormality of the bladder	79152	FA2H	ORPHA:171629
HP:0000009	Functional abnormality of the bladder	4747	NEFL	ORPHA:101085
HP:0000009	Functional abnormality of the bladder	6908	TBP	OMIM:607136
HP:0000009	Functional abnormality of the bladder	4854	NOTCH3	OMIM:125310
HP:0000009	Functional abnormality of the bladder	28982	FLVCR1	OMIM:609033
HP:0000009	Functional abnormality of the bladder	3752	KCND3	ORPHA:98772
HP:0000009	Functional abnormality of the bladder	2261	FGFR3	OMIM:616482
HP:0000009	Functional abnormality of the bladder	56978	PRDM8	OMIM:616640
HP:0000009	Functional abnormality of the bladder	23259	DDHD2	OMIM:615033
HP:0000009	Functional abnormality of the bladder	2548	GAA	OMIM:232300
HP:0000009	Functional abnormality of the bladder	92609	TIMM50	OMIM:617698
HP:0000009	Functional abnormality of the bladder	92609	TIMM50	ORPHA:505216
HP:0000009	Functional abnormality of the bladder	8314	BAP1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	4771	NF2	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6598	SMARCB1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	84231	TRAF7	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6608	SMO	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	207	AKT1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	5290	PIK3CA	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	7015	TERT	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	51684	SUFU	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6605	SMARCE1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	54796	BNC2	ORPHA:93110
HP:0000009	Functional abnormality of the bladder	54796	BNC2	OMIM:618612
HP:0000009	Functional abnormality of the bladder	3748	KCNC3	ORPHA:98768
HP:0000009	Functional abnormality of the bladder	80025	PANK2	OMIM:234200
HP:0000009	Functional abnormality of the bladder	724066	ATXN8	ORPHA:98760
HP:0000009	Functional abnormality of the bladder	6315	ATXN8OS	ORPHA:98760
HP:0000009	Functional abnormality of the bladder	23503	ZFYVE26	OMIM:270700
HP:0000009	Functional abnormality of the bladder	51611	DPH5	OMIM:620070
HP:0000009	Functional abnormality of the bladder	283446	MYO1H	OMIM:619482
HP:0000009	Functional abnormality of the bladder	2521	FUS	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	10280	SIGMAR1	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	10558	SPTLC1	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	57679	ALS2	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	57679	ALS2	OMIM:205100
HP:0000009	Functional abnormality of the bladder	57679	ALS2	OMIM:607225
HP:0000009	Functional abnormality of the bladder	6305	SBF1	OMIM:615284
HP:0000009	Functional abnormality of the bladder	7750	ZMYM2	OMIM:619522
HP:0000009	Functional abnormality of the bladder	7204	TRIO	ORPHA:476126
HP:0000009	Functional abnormality of the bladder	6253	RTN2	OMIM:604805
HP:0000009	Functional abnormality of the bladder	6253	RTN2	ORPHA:100993
HP:0000009	Functional abnormality of the bladder	3145	HMBS	OMIM:176000
HP:0000009	Functional abnormality of the bladder	3145	HMBS	ORPHA:79276
HP:0000009	Functional abnormality of the bladder	25978	CHMP2B	OMIM:600795
HP:0000009	Functional abnormality of the bladder	8913	CACNA1G	ORPHA:458803
HP:0000009	Functional abnormality of the bladder	8913	CACNA1G	OMIM:616795
HP:0000009	Functional abnormality of the bladder	339855	KY	OMIM:617114
HP:0000009	Functional abnormality of the bladder	1315	COPB1	OMIM:619255
HP:0000009	Functional abnormality of the bladder	7415	VCP	ORPHA:329478
HP:0000009	Functional abnormality of the bladder	22943	DKK1	ORPHA:268882
HP:0000009	Functional abnormality of the bladder	2678	GGT1	OMIM:231950
HP:0000009	Functional abnormality of the bladder	3329	HSPD1	OMIM:605280
HP:0000009	Functional abnormality of the bladder	3329	HSPD1	ORPHA:100994
HP:0000009	Functional abnormality of the bladder	8799	PEX11B	OMIM:614920
HP:0000009	Functional abnormality of the bladder	9757	KMT2B	OMIM:619934
HP:0000009	Functional abnormality of the bladder	6683	SPAST	OMIM:182601
HP:0000009	Functional abnormality of the bladder	51062	ATL1	OMIM:182600
HP:0000009	Functional abnormality of the bladder	3110	MNX1	OMIM:176450
HP:0000009	Functional abnormality of the bladder	6509	SLC1A4	ORPHA:447997
HP:0000009	Functional abnormality of the bladder	84188	FAR1	ORPHA:447753
HP:0000009	Functional abnormality of the bladder	84978	FRMD5	OMIM:620094
HP:0000009	Functional abnormality of the bladder	51271	UBAP1	ORPHA:100993
HP:0000009	Functional abnormality of the bladder	5654	HTRA1	OMIM:600142
HP:0000009	Functional abnormality of the bladder	126129	CPT1C	ORPHA:444099
HP:0000009	Functional abnormality of the bladder	80217	CFAP43	OMIM:236690
HP:0000009	Functional abnormality of the bladder	7305	TYROBP	OMIM:221770
HP:0000009	Functional abnormality of the bladder	170302	ARX	OMIM:300419
HP:0000009	Functional abnormality of the bladder	57165	GJC2	OMIM:613206
HP:0000009	Functional abnormality of the bladder	3798	KIF5A	OMIM:604187
HP:0000009	Functional abnormality of the bladder	55081	IFT57	OMIM:617927
HP:0000009	Functional abnormality of the bladder	1188	CLCNKB	ORPHA:358
HP:0000009	Functional abnormality of the bladder	6559	SLC12A3	ORPHA:358
HP:0000009	Functional abnormality of the bladder	3119	HLA-DQB1	OMIM:126200
HP:0000009	Functional abnormality of the bladder	5133	PDCD1	OMIM:126200
HP:0000009	Functional abnormality of the bladder	3123	HLA-DRB1	OMIM:126200
HP:0000009	Functional abnormality of the bladder	25970	SH2B1	ORPHA:261222
HP:0000009	Functional abnormality of the bladder	5076	PAX2	ORPHA:97362
HP:0000009	Functional abnormality of the bladder	5076	PAX2	ORPHA:1475
HP:0000009	Functional abnormality of the bladder	5076	PAX2	OMIM:120330
HP:0000009	Functional abnormality of the bladder	5087	PBX1	ORPHA:97362
HP:0000009	Functional abnormality of the bladder	5087	PBX1	OMIM:617641
HP:0000009	Functional abnormality of the bladder	10617	STAMBP	OMIM:614261
HP:0000009	Functional abnormality of the bladder	8294	H4C9	OMIM:619951
HP:0000009	Functional abnormality of the bladder	2138	EYA1	OMIM:113650
HP:0000009	Functional abnormality of the bladder	2138	EYA1	ORPHA:107
HP:0000009	Functional abnormality of the bladder	6495	SIX1	OMIM:113650
HP:0000009	Functional abnormality of the bladder	6495	SIX1	OMIM:605192
HP:0000009	Functional abnormality of the bladder	6495	SIX1	ORPHA:107
HP:0000009	Functional abnormality of the bladder	54892	NCAPG2	OMIM:618460
HP:0000009	Functional abnormality of the bladder	26128	KIFBP	OMIM:609460
HP:0000009	Functional abnormality of the bladder	23556	PIGN	ORPHA:2059
HP:0000009	Functional abnormality of the bladder	23556	PIGN	OMIM:614080
HP:0000009	Functional abnormality of the bladder	1788	DNMT3A	OMIM:615879
HP:0000009	Functional abnormality of the bladder	5361	PLXNA1	OMIM:619955
HP:0000009	Functional abnormality of the bladder	3209	HOXA13	OMIM:140000
HP:0000009	Functional abnormality of the bladder	3209	HOXA13	ORPHA:2438
HP:0000009	Functional abnormality of the bladder	4774	NFIA	OMIM:613735
HP:0000009	Functional abnormality of the bladder	79813	EHMT1	ORPHA:96147
HP:0000009	Functional abnormality of the bladder	79813	EHMT1	ORPHA:261652
HP:0000009	Functional abnormality of the bladder	10992	SF3B2	OMIM:164210
HP:0000009	Functional abnormality of the bladder	85358	SHANK3	OMIM:606232
HP:0000009	Functional abnormality of the bladder	85358	SHANK3	ORPHA:48652
HP:0000009	Functional abnormality of the bladder	1131	CHRM3	ORPHA:2970
HP:0000009	Functional abnormality of the bladder	57167	SALL4	OMIM:607323
HP:0000009	Functional abnormality of the bladder	57167	SALL4	ORPHA:959
HP:0000009	Functional abnormality of the bladder	8626	TP63	OMIM:604292
HP:0000009	Functional abnormality of the bladder	8626	TP63	ORPHA:93930
HP:0000009	Functional abnormality of the bladder	8626	TP63	ORPHA:1896
HP:0000009	Functional abnormality of the bladder	64324	NSD1	ORPHA:821
HP:0000009	Functional abnormality of the bladder	29072	SETD2	ORPHA:821
HP:0000009	Functional abnormality of the bladder	10297	APC2	ORPHA:821
HP:0000009	Functional abnormality of the bladder	5447	POR	ORPHA:95699
HP:0000009	Functional abnormality of the bladder	55593	OTUD5	OMIM:301056
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	ORPHA:453504
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	OMIM:616580
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	ORPHA:352665
HP:0000009	Functional abnormality of the bladder	27125	AFF4	ORPHA:444077
HP:0000009	Functional abnormality of the bladder	27125	AFF4	OMIM:616368
HP:0000009	Functional abnormality of the bladder	80114	BICC1	OMIM:601331
HP:0000009	Functional abnormality of the bladder	6299	SALL1	OMIM:107480
HP:0000009	Functional abnormality of the bladder	6299	SALL1	ORPHA:857
HP:0000009	Functional abnormality of the bladder	4281	MID1	OMIM:300000
HP:0000009	Functional abnormality of the bladder	4281	MID1	ORPHA:2745
HP:0000009	Functional abnormality of the bladder	23498	HAAO	OMIM:617660
HP:0000009	Functional abnormality of the bladder	1387	CREBBP	ORPHA:353281
HP:0000009	Functional abnormality of the bladder	1387	CREBBP	ORPHA:353277
HP:0000009	Functional abnormality of the bladder	51506	UFC1	OMIM:618076
HP:0000009	Functional abnormality of the bladder	473	RERE	OMIM:616975
HP:0000009	Functional abnormality of the bladder	473	RERE	ORPHA:494344
HP:0000009	Functional abnormality of the bladder	3313	HSPA9	OMIM:616854
HP:0000009	Functional abnormality of the bladder	55215	FANCI	OMIM:609053
HP:0000009	Functional abnormality of the bladder	2033	EP300	ORPHA:353284
HP:0000009	Functional abnormality of the bladder	5080	PAX6	ORPHA:137902
HP:0000009	Functional abnormality of the bladder	5080	PAX6	OMIM:120200
HP:0000009	Functional abnormality of the bladder	6092	ROBO2	OMIM:610878
HP:0000009	Functional abnormality of the bladder	55636	CHD7	ORPHA:138
HP:0000009	Functional abnormality of the bladder	9723	SEMA3E	ORPHA:138
HP:0000009	Functional abnormality of the bladder	2188	FANCF	OMIM:603467
HP:0000009	Functional abnormality of the bladder	23005	MAPKBP1	OMIM:617271
HP:0000009	Functional abnormality of the bladder	2263	FGFR2	ORPHA:93260
HP:0000009	Functional abnormality of the bladder	2263	FGFR2	ORPHA:2363
HP:0000009	Functional abnormality of the bladder	51473	DCDC2	OMIM:617394
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	ORPHA:363958
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	ORPHA:363965
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	OMIM:610443
HP:0000009	Functional abnormality of the bladder	9401	RECQL4	ORPHA:1225
HP:0000009	Functional abnormality of the bladder	10616	RBCK1	OMIM:615895
HP:0000009	Functional abnormality of the bladder	1108	CHD4	OMIM:617159
HP:0000009	Functional abnormality of the bladder	7080	NKX2-1	ORPHA:209905
HP:0000009	Functional abnormality of the bladder	1312	COMT	ORPHA:567
HP:0000009	Functional abnormality of the bladder	221037	JMJD1C	ORPHA:567
HP:0000009	Functional abnormality of the bladder	2812	GP1BB	ORPHA:567
HP:0000009	Functional abnormality of the bladder	6239	RREB1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	6899	TBX1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	7290	HIRA	ORPHA:567
HP:0000009	Functional abnormality of the bladder	9632	SEC24C	ORPHA:567
HP:0000009	Functional abnormality of the bladder	7353	UFD1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	421	ARVCF	ORPHA:567
HP:0000009	Functional abnormality of the bladder	3670	ISL1	ORPHA:93930
HP:0000009	Functional abnormality of the bladder	25778	DSTYK	OMIM:610805
HP:0000009	Functional abnormality of the bladder	22827	PUF60	ORPHA:508488
HP:0000009	Functional abnormality of the bladder	10524	KAT5	OMIM:619103
HP:0000009	Functional abnormality of the bladder	1656	DDX6	OMIM:618653
HP:0000009	Functional abnormality of the bladder	5718	PSMD12	ORPHA:529962
HP:0000009	Functional abnormality of the bladder	2186	BPTF	ORPHA:529962
HP:0000009	Functional abnormality of the bladder	5277	PIGA	OMIM:300868
HP:0000009	Functional abnormality of the bladder	57178	ZMIZ1	OMIM:618659
HP:0000009	Functional abnormality of the bladder	8550	MAPKAPK5	OMIM:619869
HP:0000009	Functional abnormality of the bladder	80781	COL18A1	ORPHA:1571
HP:0000009	Functional abnormality of the bladder	5062	PAK2	ORPHA:1571
HP:0000009	Functional abnormality of the bladder	54496	PRMT7	ORPHA:464288
HP:0000009	Functional abnormality of the bladder	3192	HNRNPU	ORPHA:238769
HP:0000009	Functional abnormality of the bladder	23476	BRD4	ORPHA:199
HP:0000009	Functional abnormality of the bladder	9126	SMC3	ORPHA:199
HP:0000009	Functional abnormality of the bladder	8243	SMC1A	ORPHA:199
HP:0000009	Functional abnormality of the bladder	25836	NIPBL	ORPHA:199
HP:0000009	Functional abnormality of the bladder	25836	NIPBL	OMIM:122470
HP:0000009	Functional abnormality of the bladder	55869	HDAC8	ORPHA:199
HP:0000009	Functional abnormality of the bladder	5885	RAD21	ORPHA:199
HP:0000009	Functional abnormality of the bladder	5885	RAD21	OMIM:611376
HP:0000009	Functional abnormality of the bladder	4613	MYCN	ORPHA:391641
HP:0000009	Functional abnormality of the bladder	253738	EBF3	OMIM:617330
HP:0000009	Functional abnormality of the bladder	5530	PPP3CA	OMIM:618265
HP:0000009	Functional abnormality of the bladder	6135	RPL11	OMIM:612562
HP:0000009	Functional abnormality of the bladder	92002	CCNQ	OMIM:300707
HP:0000009	Functional abnormality of the bladder	92002	CCNQ	ORPHA:140952
HP:0000009	Functional abnormality of the bladder	6804	STX1A	ORPHA:904
HP:0000009	Functional abnormality of the bladder	7461	CLIP2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	84277	DNAJC30	ORPHA:904
HP:0000009	Functional abnormality of the bladder	8468	FKBP6	ORPHA:904
HP:0000009	Functional abnormality of the bladder	5982	RFC2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2969	GTF2I	ORPHA:904
HP:0000009	Functional abnormality of the bladder	3984	LIMK1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	9569	GTF2IRD1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	155382	VPS37D	ORPHA:904
HP:0000009	Functional abnormality of the bladder	155368	METTL27	ORPHA:904
HP:0000009	Functional abnormality of the bladder	114049	BUD23	ORPHA:904
HP:0000009	Functional abnormality of the bladder	7458	EIF4H	ORPHA:904
HP:0000009	Functional abnormality of the bladder	84163	GTF2IRD2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	9275	BCL7B	ORPHA:904
HP:0000009	Functional abnormality of the bladder	26608	TBL2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	653361	NCF1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	135886	TMEM270	ORPHA:904
HP:0000009	Functional abnormality of the bladder	51085	MLXIPL	ORPHA:904
HP:0000009	Functional abnormality of the bladder	51085	MLXIPL	OMIM:194050
HP:0000009	Functional abnormality of the bladder	9031	BAZ1B	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2006	ELN	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2006	ELN	OMIM:194050
HP:0000009	Functional abnormality of the bladder	9091	PIGQ	OMIM:618548
HP:0000009	Functional abnormality of the bladder	84720	PIGO	OMIM:614749
HP:0000009	Functional abnormality of the bladder	8405	SPOP	OMIM:618828
HP:0000009	Functional abnormality of the bladder	147912	SIX5	ORPHA:107
HP:0000009	Functional abnormality of the bladder	7227	TRPS1	ORPHA:502
HP:0000009	Functional abnormality of the bladder	8204	NRIP1	OMIM:618270
HP:0000009	Functional abnormality of the bladder	58508	KMT2C	ORPHA:261652
HP:0000009	Functional abnormality of the bladder	8318	CDC45	OMIM:617063
HP:0000009	Functional abnormality of the bladder	253959	RALGAPA1	OMIM:618797
HP:0000009	Functional abnormality of the bladder	1857	DVL3	OMIM:616894
HP:0000009	Functional abnormality of the bladder	51339	DACT1	OMIM:617466
HP:0000009	Functional abnormality of the bladder	51339	DACT1	ORPHA:857
HP:0000009	Functional abnormality of the bladder	7148	TNXB	OMIM:615963
HP:0000009	Functional abnormality of the bladder	7148	TNXB	OMIM:606408
HP:0000009	Functional abnormality of the bladder	182	JAG1	OMIM:118450
HP:0000009	Functional abnormality of the bladder	2255	FGF10	ORPHA:2363
HP:0000009	Functional abnormality of the bladder	2316	FLNA	ORPHA:2484
HP:0000009	Functional abnormality of the bladder	11128	POLR3A	ORPHA:3455
HP:0000009	Functional abnormality of the bladder	9968	MED12	OMIM:301068
HP:0000009	Functional abnormality of the bladder	64220	STRA6	ORPHA:2470
HP:0000009	Functional abnormality of the bladder	5915	RARB	ORPHA:2470
HP:0000009	Functional abnormality of the bladder	1028	CDKN1C	OMIM:130650
HP:0000009	Functional abnormality of the bladder	10984	KCNQ1OT1	OMIM:130650
HP:0000009	Functional abnormality of the bladder	3481	IGF2	OMIM:130650
HP:0000009	Functional abnormality of the bladder	3784	KCNQ1	OMIM:130650
HP:0000009	Functional abnormality of the bladder	51360	MBTPS2	ORPHA:85284
HP:0000009	Functional abnormality of the bladder	546	ATRX	OMIM:309580
HP:0000009	Functional abnormality of the bladder	2625	GATA3	ORPHA:2237
HP:0000009	Functional abnormality of the bladder	6389	SDHA	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	6390	SDHB	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	6392	SDHD	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	644096	SDHAF1	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	4052	LTBP1	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	30008	EFEMP2	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	10516	FBLN5	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	9939	RBM8A	OMIM:274000
HP:0000009	Functional abnormality of the bladder	147372	CCBE1	OMIM:235510
HP:0000009	Functional abnormality of the bladder	9276	COPB2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	11113	CIT	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	9928	KIF14	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	22995	CEP152	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	284403	WDR62	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	55262	TRAPPC14	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	163786	SASS6	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	29920	PYCR2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	84879	MFSD2A	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	4176	MCM7	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	80254	CEP63	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	29081	METTL5	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	23310	NCAPD3	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	55755	CDK5RAP2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	79648	MCPH1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	6491	STIL	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	23141	ANKLE2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	259266	ASPM	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	7109	TRAPPC10	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	1911	PHC1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	6884	TAF13	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	9662	CEP135	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	55835	CENPJ	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	57082	KNL1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	1021	CDK6	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	8295	TRRAP	OMIM:618454
HP:0000009	Functional abnormality of the bladder	7319	UBE2A	ORPHA:163956
HP:0000009	Functional abnormality of the bladder	80000	GREB1L	OMIM:617805
HP:0000009	Functional abnormality of the bladder	6595	SMARCA2	OMIM:619293
HP:0000009	Functional abnormality of the bladder	1741	DLG3	OMIM:300850
HP:0000009	Functional abnormality of the bladder	54941	RNF125	OMIM:616260
HP:0000009	Functional abnormality of the bladder	54757	FAM20A	OMIM:204690
HP:0000009	Functional abnormality of the bladder	54757	FAM20A	ORPHA:1031
HP:0000009	Functional abnormality of the bladder	3766	KCNJ10	OMIM:612780
HP:0000009	Functional abnormality of the bladder	3766	KCNJ10	ORPHA:199343
HP:0000009	Functional abnormality of the bladder	27086	FOXP1	OMIM:613670
HP:0000009	Functional abnormality of the bladder	10165	SLC25A13	ORPHA:247585
HP:0000009	Functional abnormality of the bladder	189	AGXT	ORPHA:93598
HP:0000009	Functional abnormality of the bladder	1760	DMPK	ORPHA:589821
HP:0000009	Functional abnormality of the bladder	5442	POLRMT	OMIM:619743
HP:0000009	Functional abnormality of the bladder	27031	NPHP3	OMIM:604387
HP:0000009	Functional abnormality of the bladder	1801	DPH1	ORPHA:459061
HP:0000009	Functional abnormality of the bladder	4287	ATXN3	OMIM:109150
HP:0000009	Functional abnormality of the bladder	51741	WWOX	ORPHA:284282
HP:0000009	Functional abnormality of the bladder	23533	PIK3R5	ORPHA:64753
HP:0000009	Functional abnormality of the bladder	23064	SETX	ORPHA:64753
HP:0000009	Functional abnormality of the bladder	1201	CLN3	ORPHA:228346
HP:0000009	Functional abnormality of the bladder	4312	MMP1	ORPHA:79408
HP:0000009	Functional abnormality of the bladder	1294	COL7A1	ORPHA:79408
HP:0000009	Functional abnormality of the bladder	51308	REEP2	ORPHA:401849
HP:0000009	Functional abnormality of the bladder	51308	REEP2	OMIM:615625
HP:0000009	Functional abnormality of the bladder	2670	GFAP	ORPHA:363722
HP:0000009	Functional abnormality of the bladder	547	KIF1A	OMIM:610357
HP:0000009	Functional abnormality of the bladder	2395	FXN	ORPHA:95
HP:0000009	Functional abnormality of the bladder	6310	ATXN1	OMIM:164400
HP:0000009	Functional abnormality of the bladder	5376	PMP22	ORPHA:3115
HP:0000009	Functional abnormality of the bladder	4359	MPZ	ORPHA:3115
HP:0000009	Functional abnormality of the bladder	3178	HNRNPA1	ORPHA:52430
HP:0000009	Functional abnormality of the bladder	3181	HNRNPA2B1	ORPHA:52430
HP:0000009	Functional abnormality of the bladder	55157	DARS2	ORPHA:137898
HP:0000009	Functional abnormality of the bladder	23317	DNAJC13	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	1981	EIF4G1	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	55737	VPS35	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	120892	LRRK2	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	26058	GIGYF2	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	554	AVPR2	ORPHA:223
HP:0000009	Functional abnormality of the bladder	359	AQP2	ORPHA:223
HP:0000009	Functional abnormality of the bladder	5575	PRKAR1B	OMIM:619680
HP:0000009	Functional abnormality of the bladder	649	BMP1	OMIM:614856
HP:0000009	Functional abnormality of the bladder	165918	RNF168	ORPHA:420741
HP:0000009	Functional abnormality of the bladder	6524	SLC5A2	OMIM:233100
HP:0000009	Functional abnormality of the bladder	7840	ALMS1	ORPHA:64
HP:0000009	Functional abnormality of the bladder	10667	FARS2	ORPHA:466722
HP:0000009	Functional abnormality of the bladder	55898	UNC45A	OMIM:619377
HP:0000009	Functional abnormality of the bladder	64321	SOX17	OMIM:613674
HP:0000009	Functional abnormality of the bladder	8291	DYSF	ORPHA:268
HP:0000009	Functional abnormality of the bladder	4683	NBN	ORPHA:647
HP:0000009	Functional abnormality of the bladder	112817	HOGA1	ORPHA:93600
HP:0000009	Functional abnormality of the bladder	3106	HLA-B	ORPHA:36426
HP:0000009	Functional abnormality of the bladder	10320	IKZF1	ORPHA:36426
HP:0000009	Functional abnormality of the bladder	83550	GPR101	ORPHA:963
HP:0000009	Functional abnormality of the bladder	9049	AIP	ORPHA:963
HP:0000009	Functional abnormality of the bladder	146206	CARMIL2	OMIM:618131
HP:0000009	Functional abnormality of the bladder	3251	HPRT1	ORPHA:79233
HP:0008732	Renal hypophosphatemia	1758	DMP1	ORPHA:289176
HP:0008732	Renal hypophosphatemia	5167	ENPP1	ORPHA:289176
HP:0008733	Dysplastic testes	7259	TSPYL1	OMIM:608800
HP:0008734	Decreased testicular size	2737	GLI3	ORPHA:672
HP:0008734	Decreased testicular size	2737	GLI3	OMIM:146510
HP:0008734	Decreased testicular size	2260	FGFR1	ORPHA:432
HP:0008734	Decreased testicular size	2260	FGFR1	ORPHA:478
HP:0008734	Decreased testicular size	81848	SPRY4	ORPHA:432
HP:0008734	Decreased testicular size	81848	SPRY4	OMIM:146110
HP:0008734	Decreased testicular size	81848	SPRY4	ORPHA:478
HP:0008734	Decreased testicular size	128674	PROKR2	ORPHA:432
HP:0008734	Decreased testicular size	128674	PROKR2	ORPHA:478
HP:0008734	Decreased testicular size	2253	FGF8	ORPHA:432
HP:0008734	Decreased testicular size	2253	FGF8	ORPHA:478
HP:0008734	Decreased testicular size	60675	PROK2	ORPHA:432
HP:0008734	Decreased testicular size	60675	PROK2	OMIM:610628
HP:0008734	Decreased testicular size	60675	PROK2	ORPHA:478
HP:0008734	Decreased testicular size	55636	CHD7	ORPHA:432
HP:0008734	Decreased testicular size	55636	CHD7	ORPHA:478
HP:0008734	Decreased testicular size	6870	TACR3	ORPHA:432
HP:0008734	Decreased testicular size	6870	TACR3	OMIM:614840
HP:0008734	Decreased testicular size	6870	TACR3	ORPHA:478
HP:0008734	Decreased testicular size	1848	DUSP6	ORPHA:432
HP:0008734	Decreased testicular size	1848	DUSP6	OMIM:146110
HP:0008734	Decreased testicular size	1848	DUSP6	ORPHA:478
HP:0008734	Decreased testicular size	26012	NSMF	ORPHA:432
HP:0008734	Decreased testicular size	26012	NSMF	OMIM:614838
HP:0008734	Decreased testicular size	55717	WDR11	ORPHA:432
HP:0008734	Decreased testicular size	55717	WDR11	OMIM:146110
HP:0008734	Decreased testicular size	55717	WDR11	OMIM:614858
HP:0008734	Decreased testicular size	55717	WDR11	ORPHA:478
HP:0008734	Decreased testicular size	9394	HS6ST1	ORPHA:432
HP:0008734	Decreased testicular size	9394	HS6ST1	OMIM:614880
HP:0008734	Decreased testicular size	9394	HS6ST1	ORPHA:478
HP:0008734	Decreased testicular size	2796	GNRH1	ORPHA:432
HP:0008734	Decreased testicular size	2796	GNRH1	OMIM:614841
HP:0008734	Decreased testicular size	2796	GNRH1	OMIM:146110
HP:0008734	Decreased testicular size	2798	GNRHR	ORPHA:432
HP:0008734	Decreased testicular size	2798	GNRHR	OMIM:146110
HP:0008734	Decreased testicular size	84634	KISS1R	ORPHA:432
HP:0008734	Decreased testicular size	84634	KISS1R	OMIM:614837
HP:0008734	Decreased testicular size	6866	TAC3	ORPHA:432
HP:0008734	Decreased testicular size	8822	FGF17	ORPHA:432
HP:0008734	Decreased testicular size	8822	FGF17	OMIM:146110
HP:0008734	Decreased testicular size	8822	FGF17	ORPHA:478
HP:0008734	Decreased testicular size	3814	KISS1	ORPHA:432
HP:0008734	Decreased testicular size	6662	SOX9	ORPHA:393
HP:0008734	Decreased testicular size	6662	SOX9	ORPHA:251510
HP:0008734	Decreased testicular size	6658	SOX3	ORPHA:393
HP:0008734	Decreased testicular size	6658	SOX3	ORPHA:90695
HP:0008734	Decreased testicular size	2516	NR5A1	ORPHA:393
HP:0008734	Decreased testicular size	2516	NR5A1	ORPHA:251510
HP:0008734	Decreased testicular size	2516	NR5A1	ORPHA:399805
HP:0008734	Decreased testicular size	6736	SRY	ORPHA:393
HP:0008734	Decreased testicular size	6736	SRY	ORPHA:251510
HP:0008734	Decreased testicular size	190	NR0B1	ORPHA:393
HP:0008734	Decreased testicular size	190	NR0B1	ORPHA:251510
HP:0008734	Decreased testicular size	8450	CUL4B	OMIM:300354
HP:0008734	Decreased testicular size	8450	CUL4B	ORPHA:85293
HP:0008734	Decreased testicular size	3763	KCNJ6	ORPHA:435628
HP:0008734	Decreased testicular size	6134	RPL10	OMIM:300998
HP:0008734	Decreased testicular size	6134	RPL10	ORPHA:459070
HP:0008734	Decreased testicular size	8473	OGT	OMIM:300997
HP:0008734	Decreased testicular size	23314	SATB2	ORPHA:251028
HP:0008734	Decreased testicular size	23314	SATB2	ORPHA:251019
HP:0008734	Decreased testicular size	84515	MCM8	OMIM:612885
HP:0008734	Decreased testicular size	1736	DKC1	OMIM:305000
HP:0008734	Decreased testicular size	1131	CHRM3	ORPHA:2970
HP:0008734	Decreased testicular size	2200	FBN1	ORPHA:284979
HP:0008734	Decreased testicular size	7258	TSPY1	ORPHA:1646
HP:0008734	Decreased testicular size	57055	DAZ2	ORPHA:1646
HP:0008734	Decreased testicular size	57135	DAZ4	ORPHA:1646
HP:0008734	Decreased testicular size	8287	USP9Y	ORPHA:1646
HP:0008734	Decreased testicular size	5940	RBMY1A1	ORPHA:1646
HP:0008734	Decreased testicular size	57054	DAZ3	ORPHA:1646
HP:0008734	Decreased testicular size	8653	DDX3Y	ORPHA:1646
HP:0008734	Decreased testicular size	1617	DAZ1	ORPHA:1646
HP:0008734	Decreased testicular size	10084	PQBP1	ORPHA:93950
HP:0008734	Decreased testicular size	10084	PQBP1	OMIM:309500
HP:0008734	Decreased testicular size	9150	CTDP1	OMIM:604168
HP:0008734	Decreased testicular size	55869	HDAC8	OMIM:300882
HP:0008734	Decreased testicular size	2488	FSHB	ORPHA:52901
HP:0008734	Decreased testicular size	2488	FSHB	OMIM:229070
HP:0008734	Decreased testicular size	1584	CYP11B1	OMIM:202010
HP:0008734	Decreased testicular size	201134	CEP112	OMIM:619044
HP:0008734	Decreased testicular size	8882	ZPR1	OMIM:619321
HP:0008734	Decreased testicular size	1528	CYB5A	ORPHA:90796
HP:0008734	Decreased testicular size	1586	CYP17A1	ORPHA:90796
HP:0008734	Decreased testicular size	131118	DNAJC19	OMIM:610198
HP:0008734	Decreased testicular size	1028	CDKN1C	ORPHA:436144
HP:0008734	Decreased testicular size	6492	SIM1	ORPHA:398079
HP:0008734	Decreased testicular size	140801	RPL10L	OMIM:619689
HP:0008734	Decreased testicular size	3952	LEP	ORPHA:66628
HP:0008734	Decreased testicular size	3952	LEP	OMIM:614962
HP:0008734	Decreased testicular size	3284	HSD3B2	ORPHA:90791
HP:0008734	Decreased testicular size	7298	TYMS	OMIM:620040
HP:0008734	Decreased testicular size	6638	SNRPN	ORPHA:177904
HP:0008734	Decreased testicular size	6638	SNRPN	ORPHA:177901
HP:0008734	Decreased testicular size	6638	SNRPN	ORPHA:98754
HP:0008734	Decreased testicular size	4692	NDN	ORPHA:177904
HP:0008734	Decreased testicular size	4692	NDN	ORPHA:177901
HP:0008734	Decreased testicular size	4692	NDN	ORPHA:98754
HP:0008734	Decreased testicular size	54551	MAGEL2	ORPHA:177904
HP:0008734	Decreased testicular size	54551	MAGEL2	ORPHA:177901
HP:0008734	Decreased testicular size	54551	MAGEL2	ORPHA:398069
HP:0008734	Decreased testicular size	54551	MAGEL2	ORPHA:98754
HP:0008734	Decreased testicular size	4948	OCA2	ORPHA:177904
HP:0008734	Decreased testicular size	4948	OCA2	ORPHA:177901
HP:0008734	Decreased testicular size	4948	OCA2	ORPHA:98754
HP:0008734	Decreased testicular size	170302	ARX	OMIM:300215
HP:0008734	Decreased testicular size	51132	RLIM	OMIM:300978
HP:0008734	Decreased testicular size	57697	FANCM	OMIM:618086
HP:0008734	Decreased testicular size	57697	FANCM	ORPHA:399805
HP:0008734	Decreased testicular size	8260	NAA10	OMIM:300855
HP:0008734	Decreased testicular size	3973	LHCGR	OMIM:176410
HP:0008734	Decreased testicular size	84100	ARL6	OMIM:209900
HP:0008734	Decreased testicular size	79140	CCDC28B	OMIM:209900
HP:0008734	Decreased testicular size	582	BBS1	OMIM:209900
HP:0008734	Decreased testicular size	79184	BRCC3	ORPHA:280679
HP:0008734	Decreased testicular size	284654	RSPO1	OMIM:610644
HP:0008734	Decreased testicular size	9820	CUL7	OMIM:273750
HP:0008734	Decreased testicular size	23116	TOGARAM1	OMIM:619185
HP:0008734	Decreased testicular size	1583	CYP11A1	ORPHA:289548
HP:0008734	Decreased testicular size	1583	CYP11A1	ORPHA:168558
HP:0008734	Decreased testicular size	55630	SLC39A4	OMIM:201100
HP:0008734	Decreased testicular size	23312	DMXL2	OMIM:616113
HP:0008734	Decreased testicular size	23312	DMXL2	ORPHA:453533
HP:0008734	Decreased testicular size	56154	TEX15	OMIM:617960
HP:0008734	Decreased testicular size	56154	TEX15	ORPHA:399805
HP:0008734	Decreased testicular size	6885	MAP3K7	OMIM:157800
HP:0008734	Decreased testicular size	9723	SEMA3E	OMIM:146110
HP:0008734	Decreased testicular size	558	AXL	OMIM:146110
HP:0008734	Decreased testicular size	10011	SRA1	OMIM:146110
HP:0008734	Decreased testicular size	285025	CCDC141	OMIM:146110
HP:0008734	Decreased testicular size	285025	CCDC141	ORPHA:478
HP:0008734	Decreased testicular size	389549	FEZF1	OMIM:146110
HP:0008734	Decreased testicular size	389549	FEZF1	OMIM:616030
HP:0008734	Decreased testicular size	389549	FEZF1	ORPHA:478
HP:0008734	Decreased testicular size	128637	TBC1D20	OMIM:615663
HP:0008734	Decreased testicular size	3953	LEPR	ORPHA:179494
HP:0008734	Decreased testicular size	6845	VAMP7	ORPHA:251510
HP:0008734	Decreased testicular size	51741	WWOX	ORPHA:251510
HP:0008734	Decreased testicular size	4214	MAP3K1	ORPHA:251510
HP:0008734	Decreased testicular size	7490	WT1	ORPHA:251510
HP:0008734	Decreased testicular size	58524	DMRT3	ORPHA:251510
HP:0008734	Decreased testicular size	57647	DHX37	ORPHA:251510
HP:0008734	Decreased testicular size	57647	DHX37	ORPHA:983
HP:0008734	Decreased testicular size	23414	ZFPM2	ORPHA:251510
HP:0008734	Decreased testicular size	2626	GATA4	ORPHA:251510
HP:0008734	Decreased testicular size	57187	THOC2	ORPHA:457240
HP:0008734	Decreased testicular size	340719	NANOS1	ORPHA:399808
HP:0008734	Decreased testicular size	340719	NANOS1	ORPHA:399805
HP:0008734	Decreased testicular size	7840	ALMS1	ORPHA:64
HP:0008734	Decreased testicular size	54809	SAMD9	OMIM:617053
HP:0008734	Decreased testicular size	7737	RNF113A	OMIM:300953
HP:0008734	Decreased testicular size	22931	RAB18	OMIM:614222
HP:0008734	Decreased testicular size	80067	DCAF17	ORPHA:3464
HP:0008734	Decreased testicular size	80067	DCAF17	OMIM:241080
HP:0008734	Decreased testicular size	5626	PROP1	ORPHA:95494
HP:0008734	Decreased testicular size	5626	PROP1	ORPHA:90695
HP:0008734	Decreased testicular size	2736	GLI2	ORPHA:95494
HP:0008734	Decreased testicular size	89884	LHX4	ORPHA:95494
HP:0008734	Decreased testicular size	3170	FOXA2	ORPHA:95494
HP:0008734	Decreased testicular size	5449	POU1F1	ORPHA:95494
HP:0008734	Decreased testicular size	8820	HESX1	ORPHA:95494
HP:0008734	Decreased testicular size	8820	HESX1	ORPHA:478
HP:0008734	Decreased testicular size	5015	OTX2	ORPHA:95494
HP:0008734	Decreased testicular size	11041	B4GAT1	OMIM:615287
HP:0008734	Decreased testicular size	26227	PHGDH	OMIM:601815
HP:0008734	Decreased testicular size	154197	PNLDC1	OMIM:619528
HP:0008734	Decreased testicular size	154197	PNLDC1	ORPHA:399805
HP:0008734	Decreased testicular size	57704	GBA2	ORPHA:320391
HP:0008734	Decreased testicular size	5422	POLA1	ORPHA:163976
HP:0008734	Decreased testicular size	6875	TAF4B	ORPHA:399805
HP:0008734	Decreased testicular size	56155	TEX14	ORPHA:399805
HP:0008734	Decreased testicular size	7516	XRCC2	ORPHA:399805
HP:0008734	Decreased testicular size	7516	XRCC2	OMIM:619145
HP:0008734	Decreased testicular size	254528	MEIOB	ORPHA:399805
HP:0008734	Decreased testicular size	91057	CCDC34	ORPHA:399805
HP:0008734	Decreased testicular size	402381	SOHLH1	ORPHA:399805
HP:0008734	Decreased testicular size	317719	KLHL10	ORPHA:399805
HP:0008734	Decreased testicular size	56159	TEX11	ORPHA:399805
HP:0008734	Decreased testicular size	1080	CFTR	ORPHA:399805
HP:0008734	Decreased testicular size	84225	ZMYND15	ORPHA:399805
HP:0008734	Decreased testicular size	122402	TDRD9	ORPHA:399805
HP:0008734	Decreased testicular size	93426	SYCE1	ORPHA:399805
HP:0008734	Decreased testicular size	50511	SYCP3	ORPHA:399805
HP:0008734	Decreased testicular size	5373	PMM2	ORPHA:79318
HP:0008734	Decreased testicular size	8242	KDM5C	OMIM:300534
HP:0008734	Decreased testicular size	8242	KDM5C	ORPHA:85279
HP:0008734	Decreased testicular size	2332	FMR1	ORPHA:261483
HP:0008734	Decreased testicular size	51360	MBTPS2	ORPHA:85284
HP:0008734	Decreased testicular size	546	ATRX	OMIM:309580
HP:0008734	Decreased testicular size	23133	PHF8	ORPHA:85287
HP:0008734	Decreased testicular size	3339	HSPG2	OMIM:255800
HP:0008734	Decreased testicular size	3339	HSPG2	ORPHA:800
HP:0008734	Decreased testicular size	84295	PHF6	ORPHA:127
HP:0008734	Decreased testicular size	26123	TCTN3	ORPHA:2753
HP:0008734	Decreased testicular size	3730	ANOS1	OMIM:308700
HP:0008734	Decreased testicular size	3730	ANOS1	ORPHA:478
HP:0008734	Decreased testicular size	55315	SLC29A3	ORPHA:168569
HP:0008734	Decreased testicular size	10371	SEMA3A	OMIM:614897
HP:0008734	Decreased testicular size	10371	SEMA3A	ORPHA:478
HP:0008734	Decreased testicular size	63901	FAM111A	ORPHA:93325
HP:0008734	Decreased testicular size	23767	FLRT3	ORPHA:478
HP:0008734	Decreased testicular size	79625	NDNF	ORPHA:478
HP:0008734	Decreased testicular size	1630	DCC	ORPHA:478
HP:0008734	Decreased testicular size	54756	IL17RD	ORPHA:478
HP:0008734	Decreased testicular size	6663	SOX10	ORPHA:478
HP:0008734	Decreased testicular size	2068	ERCC2	ORPHA:910
HP:0008734	Decreased testicular size	7507	XPA	ORPHA:910
HP:0008734	Decreased testicular size	2071	ERCC3	ORPHA:910
HP:0008734	Decreased testicular size	7508	XPC	ORPHA:910
HP:0008734	Decreased testicular size	1643	DDB2	ORPHA:910
HP:0008734	Decreased testicular size	2072	ERCC4	ORPHA:910
HP:0008734	Decreased testicular size	2073	ERCC5	ORPHA:910
HP:0001571	Multiple impacted teeth	5745	PTH1R	OMIM:600002
HP:0001571	Multiple impacted teeth	2316	FLNA	OMIM:311300
HP:0001571	Multiple impacted teeth	6452	SH3BP2	OMIM:118400
HP:0001571	Multiple impacted teeth	1009	CDH11	OMIM:211380
HP:0001571	Multiple impacted teeth	3239	HOXD13	OMIM:113300
HP:0001572	Macrodontia	2972	BRF1	OMIM:616202
HP:0001572	Macrodontia	2972	BRF1	ORPHA:444072
HP:0001572	Macrodontia	1301	COL11A1	OMIM:154780
HP:0001572	Macrodontia	8911	CACNA1I	OMIM:620114
HP:0001572	Macrodontia	10664	CTCF	ORPHA:363611
HP:0001572	Macrodontia	10667	FARS2	ORPHA:466722
HP:0001572	Macrodontia	3778	KCNMA1	OMIM:618729
HP:0001572	Macrodontia	2892	GRIA3	ORPHA:364028
HP:0001572	Macrodontia	526	ATP6V1B2	ORPHA:79500
HP:0001572	Macrodontia	57465	TBC1D24	ORPHA:79500
HP:0001572	Macrodontia	2697	GJA1	OMIM:257850
HP:0001572	Macrodontia	23241	PACS2	OMIM:618067
HP:0001572	Macrodontia	4487	MSX1	ORPHA:199302
HP:0001572	Macrodontia	5818	NECTIN1	ORPHA:199302
HP:0001572	Macrodontia	8626	TP63	ORPHA:199302
HP:0001572	Macrodontia	3664	IRF6	ORPHA:199302
HP:0001572	Macrodontia	10084	PQBP1	OMIM:309500
HP:0001572	Macrodontia	23162	MAPK8IP3	OMIM:618443
HP:0001572	Macrodontia	157680	VPS13B	ORPHA:193
HP:0001572	Macrodontia	29123	ANKRD11	OMIM:148050
HP:0001572	Macrodontia	29123	ANKRD11	ORPHA:2332
HP:0001572	Macrodontia	57647	DHX37	OMIM:618731
HP:0001572	Macrodontia	672	BRCA1	OMIM:617883
HP:0001572	Macrodontia	8558	CDK10	OMIM:617694
HP:0001572	Macrodontia	738	VPS51	OMIM:618606
HP:0001572	Macrodontia	55777	MBD5	ORPHA:228402
HP:0001572	Macrodontia	4247	MGAT2	OMIM:212066
HP:0001572	Macrodontia	64093	SMOC1	ORPHA:1106
HP:0001572	Macrodontia	51305	KCNK9	ORPHA:166108
HP:0001572	Macrodontia	5813	PURA	ORPHA:438216
HP:0001572	Macrodontia	10060	ABCC9	OMIM:619719
HP:0001574	Abnormality of the integument	57822	GRHL3	ORPHA:888
HP:0001574	Abnormality of the integument	2261	FGFR3	ORPHA:794
HP:0001574	Abnormality of the integument	2261	FGFR3	OMIM:602849
HP:0001574	Abnormality of the integument	3479	IGF1	ORPHA:73272
HP:0001574	Abnormality of the integument	11113	CIT	OMIM:617090
HP:0001574	Abnormality of the integument	10128	LRPPRC	OMIM:220111
HP:0001574	Abnormality of the integument	91949	COG7	OMIM:608779
HP:0001574	Abnormality of the integument	25970	SH2B1	ORPHA:261222
HP:0001574	Abnormality of the integument	9131	AIFM1	OMIM:300232
HP:0001574	Abnormality of the integument	6909	TBX2	OMIM:618223
HP:0001574	Abnormality of the integument	8367	H4C5	OMIM:619950
HP:0001574	Abnormality of the integument	6885	MAP3K7	OMIM:617137
HP:0001574	Abnormality of the integument	55627	SMPD4	OMIM:618622
HP:0001574	Abnormality of the integument	8818	DPM2	ORPHA:329178
HP:0001574	Abnormality of the integument	7545	ZIC1	OMIM:616602
HP:0001574	Abnormality of the integument	7545	ZIC1	OMIM:618736
HP:0001574	Abnormality of the integument	7518	XRCC4	ORPHA:99812
HP:0001574	Abnormality of the integument	3981	LIG4	ORPHA:99812
HP:0001574	Abnormality of the integument	3981	LIG4	OMIM:606593
HP:0001574	Abnormality of the integument	3981	LIG4	ORPHA:235
HP:0001574	Abnormality of the integument	55209	SETD5	ORPHA:404440
HP:0001574	Abnormality of the integument	55209	SETD5	OMIM:615761
HP:0001574	Abnormality of the integument	57465	TBC1D24	OMIM:220500
HP:0001574	Abnormality of the integument	57465	TBC1D24	ORPHA:79500
HP:0001574	Abnormality of the integument	9578	CDC42BPB	OMIM:619841
HP:0001574	Abnormality of the integument	3020	H3-3A	OMIM:619720
HP:0001574	Abnormality of the integument	29998	BICRA	OMIM:619325
HP:0001574	Abnormality of the integument	341640	FREM2	OMIM:617666
HP:0001574	Abnormality of the integument	65082	VPS33A	OMIM:617303
HP:0001574	Abnormality of the integument	55690	PACS1	OMIM:615009
HP:0001574	Abnormality of the integument	55690	PACS1	ORPHA:329224
HP:0001574	Abnormality of the integument	4081	MAB21L1	OMIM:618479
HP:0001574	Abnormality of the integument	80055	PGAP1	OMIM:615802
HP:0001574	Abnormality of the integument	318	NUDT2	OMIM:619844
HP:0001574	Abnormality of the integument	55780	ERMARD	ORPHA:75857
HP:0001574	Abnormality of the integument	5934	RBL2	OMIM:619690
HP:0001574	Abnormality of the integument	83999	KREMEN1	OMIM:617392
HP:0001574	Abnormality of the integument	10735	STAG2	OMIM:301022
HP:0001574	Abnormality of the integument	23221	RHOBTB2	OMIM:618004
HP:0001574	Abnormality of the integument	55870	ASH1L	OMIM:617796
HP:0001574	Abnormality of the integument	4125	MAN2B1	OMIM:248500
HP:0001574	Abnormality of the integument	1020	CDK5	OMIM:616342
HP:0001574	Abnormality of the integument	79029	AFG2B	OMIM:619616
HP:0001574	Abnormality of the integument	6597	SMARCA4	ORPHA:1465
HP:0001574	Abnormality of the integument	6598	SMARCB1	ORPHA:1465
HP:0001574	Abnormality of the integument	6659	SOX4	ORPHA:1465
HP:0001574	Abnormality of the integument	5977	DPF2	ORPHA:1465
HP:0001574	Abnormality of the integument	6601	SMARCC2	ORPHA:1465
HP:0001574	Abnormality of the integument	6602	SMARCD1	ORPHA:1465
HP:0001574	Abnormality of the integument	196528	ARID2	ORPHA:1465
HP:0001574	Abnormality of the integument	6605	SMARCE1	ORPHA:1465
HP:0001574	Abnormality of the integument	6605	SMARCE1	OMIM:616938
HP:0001574	Abnormality of the integument	6664	SOX11	ORPHA:1465
HP:0001574	Abnormality of the integument	23065	EMC1	OMIM:616875
HP:0001574	Abnormality of the integument	23065	EMC1	ORPHA:480898
HP:0001574	Abnormality of the integument	1954	MEGF8	OMIM:614976
HP:0001574	Abnormality of the integument	57572	DOCK6	OMIM:614219
HP:0001574	Abnormality of the integument	59336	PRDM13	OMIM:619909
HP:0001574	Abnormality of the integument	54888	NSUN2	ORPHA:235
HP:0001574	Abnormality of the integument	9895	TECPR2	OMIM:615031
HP:0001574	Abnormality of the integument	9895	TECPR2	ORPHA:320385
HP:0001574	Abnormality of the integument	157680	VPS13B	ORPHA:193
HP:0001574	Abnormality of the integument	1182	CLCN3	OMIM:619512
HP:0001574	Abnormality of the integument	6938	TCF12	OMIM:615314
HP:0001574	Abnormality of the integument	85440	DOCK7	ORPHA:411986
HP:0001574	Abnormality of the integument	85440	DOCK7	OMIM:615859
HP:0001574	Abnormality of the integument	80036	TRPM3	OMIM:620224
HP:0001574	Abnormality of the integument	54499	TMCO1	OMIM:213980
HP:0001574	Abnormality of the integument	8405	SPOP	OMIM:618828
HP:0001574	Abnormality of the integument	84172	POLR1B	ORPHA:861
HP:0001574	Abnormality of the integument	9533	POLR1C	ORPHA:861
HP:0001574	Abnormality of the integument	51082	POLR1D	ORPHA:861
HP:0001574	Abnormality of the integument	6949	TCOF1	ORPHA:861
HP:0001574	Abnormality of the integument	253959	RALGAPA1	OMIM:618797
HP:0001574	Abnormality of the integument	440138	ALG11	OMIM:613661
HP:0001574	Abnormality of the integument	55343	SLC35C1	ORPHA:99843
HP:0001574	Abnormality of the integument	55691	FRMD4A	OMIM:616819
HP:0001574	Abnormality of the integument	55691	FRMD4A	ORPHA:466688
HP:0001574	Abnormality of the integument	5286	PIK3C2A	OMIM:618440
HP:0001574	Abnormality of the integument	79147	FKRP	OMIM:613153
HP:0001574	Abnormality of the integument	54187	NANS	OMIM:610442
HP:0001574	Abnormality of the integument	374969	SVBP	OMIM:618569
HP:0001574	Abnormality of the integument	4683	NBN	ORPHA:647
HP:0001574	Abnormality of the integument	10555	AGPAT2	ORPHA:528
HP:0001574	Abnormality of the integument	284119	CAVIN1	ORPHA:528
HP:0001574	Abnormality of the integument	2353	FOS	ORPHA:528
HP:0001574	Abnormality of the integument	6135	RPL11	ORPHA:124
HP:0001574	Abnormality of the integument	6138	RPL15	ORPHA:124
HP:0001574	Abnormality of the integument	6229	RPS24	ORPHA:124
HP:0001574	Abnormality of the integument	6125	RPL5	ORPHA:124
HP:0001574	Abnormality of the integument	6204	RPS10	ORPHA:124
HP:0001574	Abnormality of the integument	6224	RPS20	ORPHA:124
HP:0001574	Abnormality of the integument	6165	RPL35A	ORPHA:124
HP:0001574	Abnormality of the integument	6223	RPS19	ORPHA:124
HP:0001574	Abnormality of the integument	6232	RPS27	ORPHA:124
HP:0001574	Abnormality of the integument	6231	RPS26	ORPHA:124
HP:0001574	Abnormality of the integument	11224	RPL35	ORPHA:124
HP:0001574	Abnormality of the integument	6160	RPL31	ORPHA:124
HP:0001574	Abnormality of the integument	6218	RPS17	ORPHA:124
HP:0001574	Abnormality of the integument	6201	RPS7	ORPHA:124
HP:0001574	Abnormality of the integument	6155	RPL27	ORPHA:124
HP:0001574	Abnormality of the integument	6154	RPL26	ORPHA:124
HP:0001574	Abnormality of the integument	6210	RPS15A	ORPHA:124
HP:0001574	Abnormality of the integument	90121	TSR2	ORPHA:124
HP:0001574	Abnormality of the integument	6141	RPL18	ORPHA:124
HP:0001574	Abnormality of the integument	6235	RPS29	ORPHA:124
HP:0001574	Abnormality of the integument	6234	RPS28	ORPHA:124
HP:0001574	Abnormality of the integument	51816	ADA2	ORPHA:124
HP:0001574	Abnormality of the integument	171023	ASXL1	OMIM:605039
HP:0001574	Abnormality of the integument	29123	ANKRD11	OMIM:148050
HP:0001574	Abnormality of the integument	672	BRCA1	OMIM:617883
HP:0001574	Abnormality of the integument	6878	TAF6	OMIM:617126
HP:0001574	Abnormality of the integument	9990	SLC12A6	OMIM:218000
HP:0001574	Abnormality of the integument	10220	GDF11	OMIM:619122
HP:0001574	Abnormality of the integument	4036	LRP2	ORPHA:2143
HP:0001574	Abnormality of the integument	2132	EXT2	OMIM:616682
HP:0001574	Abnormality of the integument	2335	FN1	ORPHA:93315
HP:0001574	Abnormality of the integument	10992	SF3B2	OMIM:164210
HP:0001574	Abnormality of the integument	374654	KIF7	OMIM:200990
HP:0001574	Abnormality of the integument	1501	CTNND2	ORPHA:281
HP:0001574	Abnormality of the integument	9037	SEMA5A	ORPHA:281
HP:0001574	Abnormality of the integument	147912	SIX5	OMIM:610896
HP:0001574	Abnormality of the integument	147912	SIX5	ORPHA:107
HP:0001574	Abnormality of the integument	1906	EDN1	ORPHA:137888
HP:0001574	Abnormality of the integument	5332	PLCB4	ORPHA:137888
HP:0001574	Abnormality of the integument	2773	GNAI3	ORPHA:137888
HP:0001574	Abnormality of the integument	2773	GNAI3	OMIM:602483
HP:0001574	Abnormality of the integument	9343	EFTUD2	OMIM:610536
HP:0001574	Abnormality of the integument	9343	EFTUD2	ORPHA:79113
HP:0001574	Abnormality of the integument	94005	PIGS	OMIM:618143
HP:0001574	Abnormality of the integument	8364	H4C3	OMIM:619758
HP:0001574	Abnormality of the integument	10907	TXNL4A	OMIM:608572
HP:0001574	Abnormality of the integument	79759	ZNF668	OMIM:620194
HP:0001574	Abnormality of the integument	51339	DACT1	ORPHA:857
HP:0001574	Abnormality of the integument	54916	TMEM260	OMIM:617478
HP:0001574	Abnormality of the integument	9897	WASHC5	ORPHA:7
HP:0001574	Abnormality of the integument	28952	CCDC22	ORPHA:7
HP:0001574	Abnormality of the integument	85378	TUBGCP6	ORPHA:2518
HP:0001574	Abnormality of the integument	27229	TUBGCP4	ORPHA:2518
HP:0001574	Abnormality of the integument	10733	PLK4	ORPHA:2518
HP:0001574	Abnormality of the integument	22947	DUX4L1	ORPHA:269
HP:0001574	Abnormality of the integument	1789	DNMT3B	ORPHA:269
HP:0001574	Abnormality of the integument	2483	FRG1	ORPHA:269
HP:0001574	Abnormality of the integument	23347	SMCHD1	ORPHA:269
HP:0001574	Abnormality of the integument	100288687	DUX4	ORPHA:269
HP:0001574	Abnormality of the integument	124583	CANT1	ORPHA:1425
HP:0001574	Abnormality of the integument	55790	CSGALNACT1	ORPHA:1425
HP:0001574	Abnormality of the integument	64093	SMOC1	OMIM:206920
HP:0001574	Abnormality of the integument	1717	DHCR7	ORPHA:818
HP:0001574	Abnormality of the integument	3978	LIG1	OMIM:619774
HP:0001574	Abnormality of the integument	23064	SETX	OMIM:606002
HP:0001574	Abnormality of the integument	5476	CTSA	OMIM:256540
HP:0001574	Abnormality of the integument	4897	NRCAM	OMIM:619833
HP:0001574	Abnormality of the integument	10586	MAB21L2	OMIM:615877
HP:0001574	Abnormality of the integument	1436	CSF1R	OMIM:618476
HP:0001574	Abnormality of the integument	6536	SLC6A9	OMIM:617301
HP:0001574	Abnormality of the integument	2250	FGF5	OMIM:190330
HP:0001574	Abnormality of the integument	80204	FBXO11	OMIM:618089
HP:0001574	Abnormality of the integument	8120	AP3B2	OMIM:617276
HP:0001574	Abnormality of the integument	55603	TENT5A	OMIM:617952
HP:0001574	Abnormality of the integument	6045	RNF2	OMIM:619460
HP:0001574	Abnormality of the integument	23258	DENND5A	OMIM:617281
HP:0001574	Abnormality of the integument	22872	SEC31A	OMIM:618651
HP:0001574	Abnormality of the integument	9150	CTDP1	ORPHA:48431
HP:0001574	Abnormality of the integument	149371	EXOC8	OMIM:619076
HP:0001574	Abnormality of the integument	51633	OTUD6B	OMIM:617452
HP:0001574	Abnormality of the integument	51633	OTUD6B	ORPHA:505237
HP:0001574	Abnormality of the integument	92609	TIMM50	OMIM:617698
HP:0001574	Abnormality of the integument	5495	PPM1B	ORPHA:163693
HP:0001574	Abnormality of the integument	6519	SLC3A1	ORPHA:163693
HP:0001574	Abnormality of the integument	9581	PREPL	ORPHA:163693
HP:0001574	Abnormality of the integument	79823	CAMKMT	ORPHA:163693
HP:0001574	Abnormality of the integument	10463	SLC30A9	OMIM:617595
HP:0001574	Abnormality of the integument	84842	HPDL	OMIM:619026
HP:0001574	Abnormality of the integument	5881	RAC3	OMIM:618577
HP:0001574	Abnormality of the integument	7407	VARS1	OMIM:617802
HP:0001574	Abnormality of the integument	26235	FBXL4	OMIM:615471
HP:0001574	Abnormality of the integument	9820	CUL7	ORPHA:2616
HP:0001574	Abnormality of the integument	9820	CUL7	OMIM:273750
HP:0001574	Abnormality of the integument	23363	OBSL1	ORPHA:2616
HP:0001574	Abnormality of the integument	83987	CCDC8	ORPHA:2616
HP:0001574	Abnormality of the integument	10479	SLC9A6	OMIM:300243
HP:0001574	Abnormality of the integument	10479	SLC9A6	ORPHA:85278
HP:0001574	Abnormality of the integument	10015	PDCD6IP	OMIM:620047
HP:0001574	Abnormality of the integument	388662	SLC6A17	ORPHA:457212
HP:0001574	Abnormality of the integument	5700	PSMC1	OMIM:620071
HP:0001574	Abnormality of the integument	81887	LAS1L	ORPHA:3459
HP:0001574	Abnormality of the integument	81887	LAS1L	OMIM:309585
HP:0001574	Abnormality of the integument	10588	MTHFS	OMIM:618367
HP:0001574	Abnormality of the integument	23067	SETD1B	OMIM:619000
HP:0001574	Abnormality of the integument	114928	GPRASP2	OMIM:301018
HP:0001574	Abnormality of the integument	55331	ACER3	OMIM:617762
HP:0001574	Abnormality of the integument	1009	CDH11	ORPHA:1299
HP:0001574	Abnormality of the integument	1301	COL11A1	ORPHA:560
HP:0001574	Abnormality of the integument	51611	DPH5	OMIM:620070
HP:0001574	Abnormality of the integument	9853	RUSC2	OMIM:617773
HP:0001574	Abnormality of the integument	23241	PACS2	OMIM:618067
HP:0001574	Abnormality of the integument	7109	TRAPPC10	OMIM:620027
HP:0001574	Abnormality of the integument	10274	STAG1	ORPHA:502434
HP:0001574	Abnormality of the integument	10300	KATNB1	OMIM:616212
HP:0001574	Abnormality of the integument	7552	ZNF711	OMIM:300803
HP:0001574	Abnormality of the integument	51506	UFC1	OMIM:618076
HP:0001574	Abnormality of the integument	2314	FLII	ORPHA:819
HP:0001574	Abnormality of the integument	23096	IQSEC2	ORPHA:819
HP:0001574	Abnormality of the integument	10743	RAI1	ORPHA:819
HP:0001574	Abnormality of the integument	10743	RAI1	OMIM:182290
HP:0001574	Abnormality of the integument	10978	CLP1	OMIM:615803
HP:0001574	Abnormality of the integument	57082	KNL1	OMIM:604321
HP:0001574	Abnormality of the integument	26153	KIF26A	OMIM:620156
HP:0001574	Abnormality of the integument	83696	TRAPPC9	OMIM:613192
HP:0001574	Abnormality of the integument	83696	TRAPPC9	ORPHA:352530
HP:0001574	Abnormality of the integument	3899	AFF3	OMIM:619297
HP:0001574	Abnormality of the integument	5119	CHMP1A	OMIM:614961
HP:0001574	Abnormality of the integument	114034	TOE1	OMIM:614969
HP:0001574	Abnormality of the integument	9377	COX5A	OMIM:619064
HP:0001574	Abnormality of the integument	283987	HID1	OMIM:619983
HP:0001574	Abnormality of the integument	23036	ZNF292	OMIM:619188
HP:0001574	Abnormality of the integument	3340	NDST1	OMIM:616116
HP:0001574	Abnormality of the integument	79813	EHMT1	OMIM:610253
HP:0001574	Abnormality of the integument	79813	EHMT1	ORPHA:96147
HP:0001574	Abnormality of the integument	93627	TBCK	ORPHA:488632
HP:0001574	Abnormality of the integument	84300	UQCC2	OMIM:615824
HP:0001574	Abnormality of the integument	3192	HNRNPU	ORPHA:238769
HP:0001574	Abnormality of the integument	253738	EBF3	OMIM:617330
HP:0001574	Abnormality of the integument	26038	CHD5	OMIM:619873
HP:0001574	Abnormality of the integument	55621	TRMT1	OMIM:618302
HP:0001574	Abnormality of the integument	55280	CWF19L1	OMIM:616127
HP:0001574	Abnormality of the integument	55280	CWF19L1	ORPHA:453521
HP:0001574	Abnormality of the integument	54828	BCAS3	OMIM:619641
HP:0001574	Abnormality of the integument	56098	PCDHGC4	OMIM:619880
HP:0001574	Abnormality of the integument	7358	UGDH	OMIM:618792
HP:0001574	Abnormality of the integument	9772	TMEM94	OMIM:618316
HP:0001574	Abnormality of the integument	2556	GABRA3	OMIM:301091
HP:0001574	Abnormality of the integument	51322	WAC	ORPHA:284169
HP:0001574	Abnormality of the integument	51322	WAC	OMIM:616708
HP:0001574	Abnormality of the integument	51322	WAC	ORPHA:466950
HP:0001574	Abnormality of the integument	7030	TFE3	OMIM:301066
HP:0001574	Abnormality of the integument	23162	MAPK8IP3	OMIM:618443
HP:0001574	Abnormality of the integument	23219	FBXO28	OMIM:619777
HP:0001574	Abnormality of the integument	79791	FBXO31	OMIM:615979
HP:0001574	Abnormality of the integument	22856	CHSY1	OMIM:605282
HP:0001574	Abnormality of the integument	6509	SLC1A4	ORPHA:447997
HP:0001574	Abnormality of the integument	7546	ZIC2	OMIM:609637
HP:0001574	Abnormality of the integument	55023	PHIP	ORPHA:589905
HP:0001574	Abnormality of the integument	55023	PHIP	OMIM:617991
HP:0001574	Abnormality of the integument	22907	DHX30	OMIM:617804
HP:0001574	Abnormality of the integument	6888	TALDO1	OMIM:606003
HP:0001574	Abnormality of the integument	11160	ERLIN2	ORPHA:280384
HP:0001574	Abnormality of the integument	11160	ERLIN2	ORPHA:209951
HP:0001574	Abnormality of the integument	51621	KLF13	OMIM:612001
HP:0001574	Abnormality of the integument	1139	CHRNA7	OMIM:612001
HP:0001574	Abnormality of the integument	5648	MASP1	OMIM:257920
HP:0001574	Abnormality of the integument	55628	ZNF407	OMIM:619557
HP:0001574	Abnormality of the integument	113179	ADAT3	ORPHA:363528
HP:0001574	Abnormality of the integument	23030	KDM4B	OMIM:619320
HP:0001574	Abnormality of the integument	3313	HSPA9	OMIM:616854
HP:0001574	Abnormality of the integument	3097	HIVEP2	OMIM:616977
HP:0001574	Abnormality of the integument	4131	MAP1B	OMIM:618918
HP:0001574	Abnormality of the integument	9969	MED13	OMIM:618009
HP:0001574	Abnormality of the integument	1000	CDH2	OMIM:618929
HP:0001574	Abnormality of the integument	2248	FGF3	ORPHA:90024
HP:0001574	Abnormality of the integument	8091	HMGA2	ORPHA:94063
HP:0001574	Abnormality of the integument	5718	PSMD12	ORPHA:529962
HP:0001574	Abnormality of the integument	2186	BPTF	ORPHA:529962
HP:0001574	Abnormality of the integument	80185	TTI2	OMIM:615541
HP:0001574	Abnormality of the integument	80185	TTI2	ORPHA:391307
HP:0001574	Abnormality of the integument	50801	KCNK4	OMIM:618381
HP:0001574	Abnormality of the integument	10771	ZMYND11	OMIM:616083
HP:0001574	Abnormality of the integument	10664	CTCF	ORPHA:363611
HP:0001574	Abnormality of the integument	5702	PSMC3	OMIM:619354
HP:0001574	Abnormality of the integument	50937	CDON	OMIM:614226
HP:0001574	Abnormality of the integument	1457	CSNK2A1	OMIM:617062
HP:0001574	Abnormality of the integument	118924	FRA10AC1	OMIM:620113
HP:0001574	Abnormality of the integument	2273	FHL1	OMIM:300280
HP:0001574	Abnormality of the integument	403	ARL3	OMIM:618161
HP:0001574	Abnormality of the integument	6904	TBCD	OMIM:617193
HP:0001574	Abnormality of the integument	5879	RAC1	OMIM:617751
HP:0001574	Abnormality of the integument	23133	PHF8	ORPHA:85287
HP:0001574	Abnormality of the integument	23133	PHF8	OMIM:300263
HP:0001574	Abnormality of the integument	3778	KCNMA1	OMIM:618729
HP:0001574	Abnormality of the integument	64802	NMNAT1	OMIM:619260
HP:0001574	Abnormality of the integument	11141	IL1RAPL1	OMIM:300143
HP:0001574	Abnormality of the integument	284361	EMC10	OMIM:619264
HP:0001574	Abnormality of the integument	10844	TUBGCP2	OMIM:618737
HP:0001574	Abnormality of the integument	9927	MFN2	OMIM:151800
HP:0001574	Abnormality of the integument	23118	TAB2	ORPHA:228410
HP:0001574	Abnormality of the integument	53630	BCO1	OMIM:115300
HP:0001574	Abnormality of the integument	9640	ZNF592	ORPHA:83472
HP:0001574	Abnormality of the integument	105371045	PERCC1	ORPHA:92050
HP:0001574	Abnormality of the integument	54809	SAMD9	OMIM:610455
HP:0001574	Abnormality of the integument	55532	SLC30A10	ORPHA:309854
HP:0001574	Abnormality of the integument	9420	CYP7B1	ORPHA:79302
HP:0001574	Abnormality of the integument	9420	CYP7B1	OMIM:613812
HP:0001574	Abnormality of the integument	55687	TRMU	OMIM:613070
HP:0001574	Abnormality of the integument	60561	RINT1	OMIM:618641
HP:0001574	Abnormality of the integument	11232	POLG2	OMIM:618528
HP:0001574	Abnormality of the integument	1716	DGUOK	OMIM:251880
HP:0001574	Abnormality of the integument	1244	ABCC2	ORPHA:234
HP:0001574	Abnormality of the integument	1244	ABCC2	OMIM:237500
HP:0001574	Abnormality of the integument	5311	PKD2	OMIM:613095
HP:0001574	Abnormality of the integument	10068	IL18BP	OMIM:618549
HP:0001574	Abnormality of the integument	5265	SERPINA1	ORPHA:60
HP:0001574	Abnormality of the integument	5428	POLG	OMIM:203700
HP:0001574	Abnormality of the integument	55670	PEX26	OMIM:614872
HP:0001574	Abnormality of the integument	55670	PEX26	ORPHA:912
HP:0001574	Abnormality of the integument	10165	SLC25A13	ORPHA:247598
HP:0001574	Abnormality of the integument	9409	PEX16	OMIM:614876
HP:0001574	Abnormality of the integument	9409	PEX16	ORPHA:912
HP:0001574	Abnormality of the integument	2729	GCLC	ORPHA:33574
HP:0001574	Abnormality of the integument	11330	CTRC	ORPHA:103918
HP:0001574	Abnormality of the integument	11330	CTRC	ORPHA:676
HP:0001574	Abnormality of the integument	6690	SPINK1	ORPHA:103918
HP:0001574	Abnormality of the integument	6690	SPINK1	ORPHA:676
HP:0001574	Abnormality of the integument	5213	PFKM	OMIM:232800
HP:0001574	Abnormality of the integument	5195	PEX14	OMIM:614887
HP:0001574	Abnormality of the integument	5195	PEX14	ORPHA:912
HP:0001574	Abnormality of the integument	29929	ALG6	ORPHA:79320
HP:0001574	Abnormality of the integument	5825	ABCD3	OMIM:616278
HP:0001574	Abnormality of the integument	27429	HTRA2	OMIM:617248
HP:0001574	Abnormality of the integument	8504	PEX3	ORPHA:912
HP:0001574	Abnormality of the integument	5194	PEX13	ORPHA:912
HP:0001574	Abnormality of the integument	6006	RHCE	ORPHA:71275
HP:0001574	Abnormality of the integument	6007	RHD	ORPHA:71275
HP:0001574	Abnormality of the integument	763	CA5A	OMIM:615751
HP:0001574	Abnormality of the integument	3875	KRT18	OMIM:215600
HP:0001574	Abnormality of the integument	5172	SLC26A4	ORPHA:95720
HP:0001574	Abnormality of the integument	2592	GALT	ORPHA:79239
HP:0001574	Abnormality of the integument	51218	GLRX5	OMIM:616860
HP:0001574	Abnormality of the integument	2821	GPI	OMIM:613470
HP:0001574	Abnormality of the integument	50619	DEF6	OMIM:619573
HP:0001574	Abnormality of the integument	7019	TFAM	OMIM:617156
HP:0001574	Abnormality of the integument	3431	SP110	ORPHA:79124
HP:0001574	Abnormality of the integument	7289	TULP3	OMIM:619902
HP:0001574	Abnormality of the integument	285282	RABL3	ORPHA:1333
HP:0001574	Abnormality of the integument	23022	PALLD	ORPHA:1333
HP:0001574	Abnormality of the integument	5644	PRSS1	ORPHA:676
HP:0001574	Abnormality of the integument	5645	PRSS2	ORPHA:676
HP:0001574	Abnormality of the integument	1357	CPA1	ORPHA:676
HP:0001574	Abnormality of the integument	570	BAAT	OMIM:619232
HP:0001574	Abnormality of the integument	6928	HNF1B	ORPHA:93111
HP:0001574	Abnormality of the integument	286410	ATP11C	OMIM:301015
HP:0001574	Abnormality of the integument	51124	IER3IP1	OMIM:614231
HP:0001574	Abnormality of the integument	100506658	OCLN	OMIM:251290
HP:0001574	Abnormality of the integument	199221	DZIP1L	ORPHA:731
HP:0001574	Abnormality of the integument	2215	FCGR3B	ORPHA:464370
HP:0001574	Abnormality of the integument	25974	MMACHC	ORPHA:79282
HP:0001574	Abnormality of the integument	2108	ETFA	OMIM:231680
HP:0001574	Abnormality of the integument	2109	ETFB	OMIM:231680
HP:0001574	Abnormality of the integument	2110	ETFDH	OMIM:231680
HP:0001574	Abnormality of the integument	2582	GALE	OMIM:230350
HP:0001574	Abnormality of the integument	128	ADH5	OMIM:619151
HP:0001574	Abnormality of the integument	4173	MCM4	OMIM:609981
HP:0001574	Abnormality of the integument	8879	SGPL1	OMIM:617575
HP:0001574	Abnormality of the integument	80025	PANK2	OMIM:234200
HP:0001574	Abnormality of the integument	654	BMP6	ORPHA:465508
HP:0001574	Abnormality of the integument	55367	PIDD1	OMIM:619827
HP:0001574	Abnormality of the integument	51126	NAA20	OMIM:619717
HP:0001574	Abnormality of the integument	5830	PEX5	OMIM:214110
HP:0001574	Abnormality of the integument	22858	CILK1	OMIM:612651
HP:0001574	Abnormality of the integument	9382	COG1	OMIM:611209
HP:0001574	Abnormality of the integument	84987	COX14	OMIM:619053
HP:0001574	Abnormality of the integument	5442	POLRMT	OMIM:619743
HP:0001574	Abnormality of the integument	132158	GLYCTK	OMIM:220120
HP:0001574	Abnormality of the integument	23137	SMC5	OMIM:620185
HP:0001574	Abnormality of the integument	4208	MEF2C	OMIM:613443
HP:0001574	Abnormality of the integument	9230	RAB11B	OMIM:617807
HP:0001574	Abnormality of the integument	55081	IFT57	OMIM:617927
HP:0001574	Abnormality of the integument	5193	PEX12	OMIM:266510
HP:0001574	Abnormality of the integument	5515	PPP2CA	OMIM:618354
HP:0001574	Abnormality of the integument	2902	GRIN1	OMIM:617820
HP:0001574	Abnormality of the integument	23097	CDK19	OMIM:618916
HP:0001574	Abnormality of the integument	5530	PPP3CA	OMIM:617711
HP:0001574	Abnormality of the integument	80746	TSEN2	OMIM:612389
HP:0001574	Abnormality of the integument	9361	LONP1	ORPHA:79243
HP:0001574	Abnormality of the integument	57187	THOC2	ORPHA:457240
HP:0001574	Abnormality of the integument	92002	CCNQ	OMIM:300707
HP:0001574	Abnormality of the integument	91461	PKDCC	OMIM:618821
HP:0001574	Abnormality of the integument	4329	ALDH6A1	OMIM:614105
HP:0001574	Abnormality of the integument	83737	ITCH	OMIM:613385
HP:0001574	Abnormality of the integument	7169	TPM2	OMIM:108120
HP:0001574	Abnormality of the integument	2733	GLE1	OMIM:611890
HP:0001574	Abnormality of the integument	23299	BICD2	OMIM:618291
HP:0001574	Abnormality of the integument	8462	KLF11	ORPHA:552
HP:0001574	Abnormality of the integument	2645	GCK	ORPHA:552
HP:0001574	Abnormality of the integument	26060	APPL1	ORPHA:552
HP:0001574	Abnormality of the integument	640	BLK	ORPHA:552
HP:0001574	Abnormality of the integument	1056	CEL	ORPHA:552
HP:0001574	Abnormality of the integument	4760	NEUROD1	ORPHA:552
HP:0001574	Abnormality of the integument	3651	PDX1	ORPHA:552
HP:0001574	Abnormality of the integument	5078	PAX4	ORPHA:552
HP:0001574	Abnormality of the integument	3630	INS	ORPHA:552
HP:0001574	Abnormality of the integument	4160	MC4R	ORPHA:71529
HP:0001574	Abnormality of the integument	3290	HSD11B1	OMIM:614662
HP:0001574	Abnormality of the integument	63924	CIDEC	OMIM:615238
HP:0001574	Abnormality of the integument	63924	CIDEC	ORPHA:435651
HP:0001574	Abnormality of the integument	208	AKT2	ORPHA:79085
HP:0001574	Abnormality of the integument	6548	SLC9A1	OMIM:616291
HP:0001574	Abnormality of the integument	8936	WASF1	OMIM:618707
HP:0001574	Abnormality of the integument	157570	ESCO2	OMIM:268300
HP:0001574	Abnormality of the integument	7849	PAX8	OMIM:218700
HP:0001574	Abnormality of the integument	9071	CLDN10	OMIM:617671
HP:0001574	Abnormality of the integument	816	CAMK2B	OMIM:617799
HP:0001574	Abnormality of the integument	55770	EXOC2	OMIM:619306
HP:0001574	Abnormality of the integument	7200	TRH	OMIM:275120
HP:0001574	Abnormality of the integument	7067	THRA	OMIM:614450
HP:0001574	Abnormality of the integument	6304	SATB1	OMIM:619229
HP:0001574	Abnormality of the integument	1650	DDOST	ORPHA:300536
HP:0001574	Abnormality of the integument	8799	PEX11B	OMIM:614920
HP:0001574	Abnormality of the integument	55181	SMG8	OMIM:619268
HP:0001574	Abnormality of the integument	8942	KYNU	ORPHA:79155
HP:0001574	Abnormality of the integument	6657	SOX2	ORPHA:3157
HP:0001574	Abnormality of the integument	9915	ARNT2	ORPHA:3157
HP:0001574	Abnormality of the integument	1859	DYRK1A	ORPHA:268261
HP:0001574	Abnormality of the integument	57216	VANGL2	OMIM:182940
HP:0001574	Abnormality of the integument	6347	CCL2	OMIM:182940
HP:0001574	Abnormality of the integument	6862	TBXT	OMIM:182940
HP:0001574	Abnormality of the integument	79783	SUGCT	ORPHA:35706
HP:0001574	Abnormality of the integument	91179	SCARF2	OMIM:600920
HP:0001574	Abnormality of the integument	1725	DHPS	OMIM:618480
HP:0001574	Abnormality of the integument	10584	COLEC10	OMIM:248340
HP:0001574	Abnormality of the integument	80776	B9D2	OMIM:614175
HP:0001574	Abnormality of the integument	8642	DCHS1	OMIM:601390
HP:0001574	Abnormality of the integument	56006	SMG9	OMIM:619995
HP:0001574	Abnormality of the integument	3090	HIC1	ORPHA:531
HP:0001574	Abnormality of the integument	5048	PAFAH1B1	ORPHA:531
HP:0001574	Abnormality of the integument	7531	YWHAE	ORPHA:531
HP:0001574	Abnormality of the integument	4123	MAN2C1	OMIM:619775
HP:0001574	Abnormality of the integument	55191	NADSYN1	OMIM:618845
HP:0001574	Abnormality of the integument	51422	PRKAG2	OMIM:261740
HP:0001574	Abnormality of the integument	5250	SLC25A3	ORPHA:91130
HP:0001574	Abnormality of the integument	5250	SLC25A3	OMIM:610773
HP:0001574	Abnormality of the integument	6334	SCN8A	ORPHA:306
HP:0001574	Abnormality of the integument	112476	PRRT2	ORPHA:306
HP:0001574	Abnormality of the integument	3786	KCNQ3	ORPHA:306
HP:0001574	Abnormality of the integument	6440	SFTPC	OMIM:610913
HP:0001574	Abnormality of the integument	6440	SFTPC	ORPHA:70587
HP:0001574	Abnormality of the integument	6439	SFTPB	OMIM:265120
HP:0001574	Abnormality of the integument	6439	SFTPB	ORPHA:70587
HP:0001574	Abnormality of the integument	5105	PCK1	OMIM:261680
HP:0001574	Abnormality of the integument	21	ABCA3	OMIM:610921
HP:0001574	Abnormality of the integument	21	ABCA3	ORPHA:70587
HP:0001574	Abnormality of the integument	118856	MMP21	OMIM:616749
HP:0001574	Abnormality of the integument	2898	GRIK2	OMIM:619580
HP:0001574	Abnormality of the integument	788	SLC25A20	ORPHA:159
HP:0001574	Abnormality of the integument	7092	TLL1	ORPHA:99106
HP:0001574	Abnormality of the integument	7092	TLL1	ORPHA:99103
HP:0001574	Abnormality of the integument	3028	HSD17B10	ORPHA:391428
HP:0001574	Abnormality of the integument	5337	PLD1	OMIM:212093
HP:0001574	Abnormality of the integument	57057	TBX20	ORPHA:99103
HP:0001574	Abnormality of the integument	8021	NUP214	OMIM:618426
HP:0001574	Abnormality of the integument	79770	TXNDC15	OMIM:619879
HP:0001574	Abnormality of the integument	60482	SLC5A7	ORPHA:98914
HP:0001574	Abnormality of the integument	4649	MYO9A	ORPHA:98914
HP:0001574	Abnormality of the integument	1305	COL13A1	ORPHA:98914
HP:0001574	Abnormality of the integument	1305	COL13A1	ORPHA:98913
HP:0001574	Abnormality of the integument	1103	CHAT	ORPHA:98914
HP:0001574	Abnormality of the integument	6576	SLC25A1	ORPHA:98914
HP:0001574	Abnormality of the integument	6843	VAMP1	ORPHA:98914
HP:0001574	Abnormality of the integument	375790	AGRN	ORPHA:98914
HP:0001574	Abnormality of the integument	375790	AGRN	ORPHA:98913
HP:0001574	Abnormality of the integument	127833	SYT2	ORPHA:98914
HP:0001574	Abnormality of the integument	6616	SNAP25	ORPHA:98914
HP:0001574	Abnormality of the integument	6329	SCN4A	ORPHA:98913
HP:0001574	Abnormality of the integument	1140	CHRNB1	ORPHA:98913
HP:0001574	Abnormality of the integument	1145	CHRNE	ORPHA:98913
HP:0001574	Abnormality of the integument	221264	AK9	ORPHA:98913
HP:0001574	Abnormality of the integument	10568	SLC34A2	ORPHA:60025
HP:0001574	Abnormality of the integument	80199	FUZ	ORPHA:1136
HP:0001574	Abnormality of the integument	84705	GTPBP3	ORPHA:444013
HP:0001574	Abnormality of the integument	10013	HDAC6	ORPHA:163966
HP:0001574	Abnormality of the integument	29969	MDFIC	OMIM:620014
HP:0001574	Abnormality of the integument	375	ARF1	ORPHA:98892
HP:0001574	Abnormality of the integument	23327	NEDD4L	ORPHA:98892
HP:0001574	Abnormality of the integument	160418	TMTC3	ORPHA:98892
HP:0001574	Abnormality of the integument	10564	ARFGEF2	ORPHA:98892
HP:0001574	Abnormality of the integument	26960	NBEA	OMIM:619157
HP:0001574	Abnormality of the integument	4522	MTHFD1	OMIM:617780
HP:0001574	Abnormality of the integument	841	CASP8	OMIM:607271
HP:0001574	Abnormality of the integument	7941	PLA2G7	OMIM:147050
HP:0001574	Abnormality of the integument	50615	IL21R	OMIM:147050
HP:0001574	Abnormality of the integument	3566	IL4R	OMIM:147050
HP:0001574	Abnormality of the integument	2206	MS4A2	OMIM:147050
HP:0001574	Abnormality of the integument	5095	PCCA	OMIM:606054
HP:0001574	Abnormality of the integument	5096	PCCB	OMIM:606054
HP:0001574	Abnormality of the integument	4478	MSN	OMIM:300988
HP:0001574	Abnormality of the integument	51428	DDX41	OMIM:616871
HP:0001574	Abnormality of the integument	25914	RTTN	ORPHA:468631
HP:0001574	Abnormality of the integument	2678	GGT1	OMIM:231950
HP:0001574	Abnormality of the integument	203190	LGI3	OMIM:620007
HP:0001574	Abnormality of the integument	56160	NSMCE3	OMIM:617241
HP:0001574	Abnormality of the integument	4774	NFIA	OMIM:613735
HP:0001574	Abnormality of the integument	4774	NFIA	ORPHA:401986
HP:0001574	Abnormality of the integument	85446	ZFHX2	OMIM:147430
HP:0001574	Abnormality of the integument	284111	SLC13A5	ORPHA:1946
HP:0001574	Abnormality of the integument	79641	ROGDI	ORPHA:1946
HP:0001574	Abnormality of the integument	2533	FYB1	OMIM:273900
HP:0001574	Abnormality of the integument	11274	USP18	OMIM:617397
HP:0001574	Abnormality of the integument	27235	COQ2	OMIM:146500
HP:0001574	Abnormality of the integument	10159	ATP6AP2	OMIM:301045
HP:0001574	Abnormality of the integument	10653	SPINT2	OMIM:270420
HP:0001574	Abnormality of the integument	10000	AKT3	OMIM:615937
HP:0001574	Abnormality of the integument	23233	EXOC6B	ORPHA:93359
HP:0001574	Abnormality of the integument	58508	KMT2C	ORPHA:261652
HP:0001574	Abnormality of the integument	23769	FLRT1	ORPHA:320406
HP:0001574	Abnormality of the integument	64837	KLC2	ORPHA:320406
HP:0001574	Abnormality of the integument	64837	KLC2	OMIM:609541
HP:0001574	Abnormality of the integument	3094	HINT1	ORPHA:324442
HP:0001574	Abnormality of the integument	3094	HINT1	OMIM:137200
HP:0001574	Abnormality of the integument	23516	SLC39A14	OMIM:617013
HP:0001574	Abnormality of the integument	6571	SLC18A2	ORPHA:352649
HP:0001574	Abnormality of the integument	6571	SLC18A2	OMIM:618049
HP:0001574	Abnormality of the integument	1644	DDC	OMIM:608643
HP:0001574	Abnormality of the integument	3736	KCNA1	ORPHA:37612
HP:0001574	Abnormality of the integument	3508	IGHMBP2	OMIM:604320
HP:0001574	Abnormality of the integument	8929	PHOX2B	ORPHA:2151
HP:0001574	Abnormality of the integument	8929	PHOX2B	OMIM:209880
HP:0001574	Abnormality of the integument	5621	PRNP	OMIM:600072
HP:0001574	Abnormality of the integument	8802	SUCLG1	OMIM:245400
HP:0001574	Abnormality of the integument	8802	SUCLG1	ORPHA:17
HP:0001574	Abnormality of the integument	388962	BOLA3	OMIM:614299
HP:0001574	Abnormality of the integument	9244	CRLF1	OMIM:272430
HP:0001574	Abnormality of the integument	9244	CRLF1	ORPHA:1545
HP:0001574	Abnormality of the integument	55768	NGLY1	OMIM:615273
HP:0001574	Abnormality of the integument	330	BIRC3	ORPHA:52417
HP:0001574	Abnormality of the integument	10892	MALT1	ORPHA:52417
HP:0001574	Abnormality of the integument	8915	BCL10	ORPHA:52417
HP:0001574	Abnormality of the integument	100134444	KCNJ18	ORPHA:79102
HP:0001574	Abnormality of the integument	779	CACNA1S	ORPHA:79102
HP:0001574	Abnormality of the integument	6697	SPR	ORPHA:70594
HP:0001574	Abnormality of the integument	2887	GRB10	ORPHA:96182
HP:0001574	Abnormality of the integument	55164	SHQ1	OMIM:619922
HP:0001574	Abnormality of the integument	9091	PIGQ	OMIM:618548
HP:0001574	Abnormality of the integument	6678	SPARC	OMIM:616507
HP:0001574	Abnormality of the integument	5076	PAX2	OMIM:120330
HP:0001574	Abnormality of the integument	25	ABL1	OMIM:617602
HP:0001574	Abnormality of the integument	2243	FGA	OMIM:202400
HP:0001574	Abnormality of the integument	2244	FGB	OMIM:202400
HP:0001574	Abnormality of the integument	2266	FGG	OMIM:202400
HP:0001574	Abnormality of the integument	2120	ETV6	OMIM:616216
HP:0001574	Abnormality of the integument	10235	RASGRP2	OMIM:615888
HP:0001574	Abnormality of the integument	23218	NBEAL2	OMIM:139090
HP:0001574	Abnormality of the integument	23218	NBEAL2	ORPHA:721
HP:0001574	Abnormality of the integument	90993	CREB3L1	OMIM:616229
HP:0001574	Abnormality of the integument	2155	F7	ORPHA:327
HP:0001574	Abnormality of the integument	2155	F7	OMIM:227500
HP:0001574	Abnormality of the integument	4627	MYH9	OMIM:155100
HP:0001574	Abnormality of the integument	4627	MYH9	ORPHA:182050
HP:0001574	Abnormality of the integument	22852	ANKRD26	OMIM:188000
HP:0001574	Abnormality of the integument	5328	PLAU	OMIM:601709
HP:0001574	Abnormality of the integument	342618	SLFN14	OMIM:616913
HP:0001574	Abnormality of the integument	540	ATP7B	ORPHA:905
HP:0001574	Abnormality of the integument	5345	SERPINF2	ORPHA:79
HP:0001574	Abnormality of the integument	5345	SERPINF2	OMIM:262850
HP:0001574	Abnormality of the integument	3998	LMAN1	ORPHA:35909
HP:0001574	Abnormality of the integument	90411	MCFD2	ORPHA:35909
HP:0001574	Abnormality of the integument	200931	SLC51A	OMIM:619484
HP:0001574	Abnormality of the integument	23387	SIK3	OMIM:618162
HP:0001574	Abnormality of the integument	11117	EMILIN1	OMIM:620080
HP:0001574	Abnormality of the integument	5592	PRKG1	ORPHA:91387
HP:0001574	Abnormality of the integument	2301	FOXE3	ORPHA:91387
HP:0001574	Abnormality of the integument	4144	MAT2A	ORPHA:91387
HP:0001574	Abnormality of the integument	23493	HEY2	ORPHA:91387
HP:0001574	Abnormality of the integument	8076	MFAP5	ORPHA:91387
HP:0001574	Abnormality of the integument	4638	MYLK	ORPHA:91387
HP:0001574	Abnormality of the integument	950	SCARB2	ORPHA:77259
HP:0001574	Abnormality of the integument	7450	VWF	OMIM:193400
HP:0001574	Abnormality of the integument	975	CD81	OMIM:613496
HP:0001574	Abnormality of the integument	975	CD81	ORPHA:1572
HP:0001574	Abnormality of the integument	7036	TFR2	OMIM:604250
HP:0001574	Abnormality of the integument	9103	FCGR2C	ORPHA:3002
HP:0001574	Abnormality of the integument	84876	ORAI1	ORPHA:3204
HP:0001574	Abnormality of the integument	717	C2	OMIM:217000
HP:0001574	Abnormality of the integument	23495	TNFRSF13B	ORPHA:1572
HP:0001574	Abnormality of the integument	115650	TNFRSF13C	ORPHA:1572
HP:0001574	Abnormality of the integument	1380	CR2	ORPHA:1572
HP:0001574	Abnormality of the integument	8742	TNFSF12	ORPHA:1572
HP:0001574	Abnormality of the integument	930	CD19	ORPHA:1572
HP:0001574	Abnormality of the integument	29851	ICOS	ORPHA:1572
HP:0001574	Abnormality of the integument	931	MS4A1	ORPHA:1572
HP:0001574	Abnormality of the integument	3207	HOXA11	OMIM:605432
HP:0001574	Abnormality of the integument	3078	CFHR1	OMIM:235400
HP:0001574	Abnormality of the integument	10878	CFHR3	OMIM:235400
HP:0001574	Abnormality of the integument	3155	HMGCL	ORPHA:20
HP:0001574	Abnormality of the integument	3155	HMGCL	OMIM:246450
HP:0001574	Abnormality of the integument	2562	GABRB3	ORPHA:64280
HP:0001574	Abnormality of the integument	8912	CACNA1H	ORPHA:64280
HP:0001574	Abnormality of the integument	8629	JRK	ORPHA:64280
HP:0001574	Abnormality of the integument	55240	STEAP3	OMIM:615234
HP:0001574	Abnormality of the integument	55240	STEAP3	ORPHA:300298
HP:0001574	Abnormality of the integument	55624	POMGNT1	OMIM:253280
HP:0001574	Abnormality of the integument	57679	ALS2	OMIM:606353
HP:0001574	Abnormality of the integument	113235	SLC46A1	ORPHA:90045
HP:0001574	Abnormality of the integument	3073	HEXA	OMIM:272800
HP:0001574	Abnormality of the integument	9227	LRAT	OMIM:613341
HP:0001574	Abnormality of the integument	60509	AGBL5	OMIM:617023
HP:0001574	Abnormality of the integument	10560	SLC19A2	ORPHA:49827
HP:0001574	Abnormality of the integument	8029	CUBN	ORPHA:35858
HP:0001574	Abnormality of the integument	81693	AMN	ORPHA:35858
HP:0001574	Abnormality of the integument	164656	TMPRSS6	ORPHA:209981
HP:0001574	Abnormality of the integument	5805	PTS	ORPHA:13
HP:0001574	Abnormality of the integument	10661	KLF1	ORPHA:46532
HP:0001574	Abnormality of the integument	3047	HBG1	ORPHA:46532
HP:0001574	Abnormality of the integument	3048	HBG2	ORPHA:46532
HP:0001574	Abnormality of the integument	84839	RAX2	OMIM:610381
HP:0001574	Abnormality of the integument	4976	OPA1	OMIM:165500
HP:0001574	Abnormality of the integument	2203	FBP1	ORPHA:348
HP:0001574	Abnormality of the integument	38	ACAT1	ORPHA:134
HP:0001574	Abnormality of the integument	595	CCND1	ORPHA:892
HP:0001574	Abnormality of the integument	9493	KIF23	ORPHA:98870
HP:0001574	Abnormality of the integument	29127	RACGAP1	ORPHA:98870
HP:0001574	Abnormality of the integument	27249	MMADHC	ORPHA:79283
HP:0001574	Abnormality of the integument	84233	TMEM126A	OMIM:612989
HP:0001574	Abnormality of the integument	1719	DHFR	OMIM:613839
HP:0001574	Abnormality of the integument	9015	TAF1A	ORPHA:154
HP:0001574	Abnormality of the integument	7112	TMPO	ORPHA:154
HP:0001574	Abnormality of the integument	9464	HAND2	ORPHA:154
HP:0001574	Abnormality of the integument	4625	MYH7	ORPHA:154
HP:0001574	Abnormality of the integument	88	ACTN2	ORPHA:154
HP:0001574	Abnormality of the integument	10486	CAP2	ORPHA:154
HP:0001574	Abnormality of the integument	7168	TPM1	ORPHA:154
HP:0001574	Abnormality of the integument	7414	VCL	ORPHA:154
HP:0001574	Abnormality of the integument	70	ACTC1	ORPHA:154
HP:0001574	Abnormality of the integument	27063	ANKRD1	ORPHA:154
HP:0001574	Abnormality of the integument	8048	CSRP3	ORPHA:154
HP:0001574	Abnormality of the integument	7139	TNNT2	ORPHA:154
HP:0001574	Abnormality of the integument	3910	LAMA4	ORPHA:154
HP:0001574	Abnormality of the integument	7273	TTN	ORPHA:154
HP:0001574	Abnormality of the integument	9531	BAG3	ORPHA:154
HP:0001574	Abnormality of the integument	5350	PLN	ORPHA:154
HP:0001574	Abnormality of the integument	91624	NEXN	ORPHA:154
HP:0001574	Abnormality of the integument	79717	PPCS	ORPHA:154
HP:0001574	Abnormality of the integument	5664	PSEN2	ORPHA:154
HP:0001574	Abnormality of the integument	4624	MYH6	ORPHA:154
HP:0001574	Abnormality of the integument	9529	BAG5	ORPHA:154
HP:0001574	Abnormality of the integument	4607	MYBPC3	ORPHA:154
HP:0001574	Abnormality of the integument	282996	RBM20	ORPHA:154
HP:0001574	Abnormality of the integument	7137	TNNI3	ORPHA:154
HP:0001574	Abnormality of the integument	11155	LDB3	ORPHA:154
HP:0001574	Abnormality of the integument	2274	FHL2	ORPHA:154
HP:0001574	Abnormality of the integument	1756	DMD	ORPHA:154
HP:0001574	Abnormality of the integument	57798	GATAD1	ORPHA:154
HP:0001574	Abnormality of the integument	7134	TNNC1	ORPHA:154
HP:0001574	Abnormality of the integument	84665	MYPN	ORPHA:154
HP:0001574	Abnormality of the integument	1674	DES	ORPHA:154
HP:0001574	Abnormality of the integument	6444	SGCD	ORPHA:154
HP:0001574	Abnormality of the integument	6331	SCN5A	ORPHA:154
HP:0001574	Abnormality of the integument	2218	FKTN	ORPHA:154
HP:0001574	Abnormality of the integument	8557	TCAP	ORPHA:154
HP:0001574	Abnormality of the integument	57192	MCOLN1	ORPHA:578
HP:0001574	Abnormality of the integument	92840	REEP6	ORPHA:791
HP:0001574	Abnormality of the integument	6094	ROM1	ORPHA:791
HP:0001574	Abnormality of the integument	6017	RLBP1	ORPHA:791
HP:0001574	Abnormality of the integument	7401	CLRN1	ORPHA:791
HP:0001574	Abnormality of the integument	24	ABCA4	ORPHA:791
HP:0001574	Abnormality of the integument	130557	ZNF513	ORPHA:791
HP:0001574	Abnormality of the integument	92211	CDHR1	ORPHA:791
HP:0001574	Abnormality of the integument	23568	ARL2BP	ORPHA:791
HP:0001574	Abnormality of the integument	6121	RPE65	ORPHA:791
HP:0001574	Abnormality of the integument	54806	AHI1	ORPHA:791
HP:0001574	Abnormality of the integument	6101	RP1	ORPHA:791
HP:0001574	Abnormality of the integument	3419	IDH3A	ORPHA:791
HP:0001574	Abnormality of the integument	4751	NEK2	ORPHA:791
HP:0001574	Abnormality of the integument	346007	EYS	ORPHA:791
HP:0001574	Abnormality of the integument	8100	IFT88	ORPHA:791
HP:0001574	Abnormality of the integument	23020	SNRNP200	ORPHA:791
HP:0001574	Abnormality of the integument	762	CA4	ORPHA:791
HP:0001574	Abnormality of the integument	196	AHR	ORPHA:791
HP:0001574	Abnormality of the integument	3614	IMPDH1	ORPHA:791
HP:0001574	Abnormality of the integument	6103	RPGR	ORPHA:791
HP:0001574	Abnormality of the integument	1406	CRX	ORPHA:791
HP:0001574	Abnormality of the integument	5148	PDE6G	ORPHA:791
HP:0001574	Abnormality of the integument	26121	PRPF31	ORPHA:791
HP:0001574	Abnormality of the integument	4117	MAK	ORPHA:791
HP:0001574	Abnormality of the integument	25794	FSCN2	ORPHA:791
HP:0001574	Abnormality of the integument	375298	CERKL	ORPHA:791
HP:0001574	Abnormality of the integument	3420	IDH3B	ORPHA:791
HP:0001574	Abnormality of the integument	57670	KIAA1549	ORPHA:791
HP:0001574	Abnormality of the integument	7275	TUB	ORPHA:791
HP:0001574	Abnormality of the integument	24148	PRPF6	ORPHA:791
HP:0001574	Abnormality of the integument	23418	CRB1	ORPHA:791
HP:0001574	Abnormality of the integument	10461	MERTK	ORPHA:791
HP:0001574	Abnormality of the integument	57709	SLC7A14	ORPHA:791
HP:0001574	Abnormality of the integument	768206	PRCD	ORPHA:791
HP:0001574	Abnormality of the integument	7399	USH2A	ORPHA:791
HP:0001574	Abnormality of the integument	23370	ARHGEF18	ORPHA:791
HP:0001574	Abnormality of the integument	5949	RBP3	ORPHA:791
HP:0001574	Abnormality of the integument	6010	RHO	ORPHA:791
HP:0001574	Abnormality of the integument	6100	RP9	ORPHA:791
HP:0001574	Abnormality of the integument	10002	NR2E3	ORPHA:791
HP:0001574	Abnormality of the integument	84140	FAM161A	ORPHA:791
HP:0001574	Abnormality of the integument	55812	SPATA7	ORPHA:791
HP:0001574	Abnormality of the integument	5145	PDE6A	ORPHA:791
HP:0001574	Abnormality of the integument	10210	TOPORS	ORPHA:791
HP:0001574	Abnormality of the integument	8842	PROM1	ORPHA:791
HP:0001574	Abnormality of the integument	9128	PRPF4	ORPHA:791
HP:0001574	Abnormality of the integument	145226	RDH12	ORPHA:791
HP:0001574	Abnormality of the integument	50939	IMPG2	ORPHA:791
HP:0001574	Abnormality of the integument	2979	GUCA1B	ORPHA:791
HP:0001574	Abnormality of the integument	1259	CNGA1	ORPHA:791
HP:0001574	Abnormality of the integument	1258	CNGB1	ORPHA:791
HP:0001574	Abnormality of the integument	5961	PRPH2	ORPHA:791
HP:0001574	Abnormality of the integument	388939	PCARE	ORPHA:791
HP:0001574	Abnormality of the integument	7439	BEST1	ORPHA:791
HP:0001574	Abnormality of the integument	9785	DHX38	ORPHA:791
HP:0001574	Abnormality of the integument	7287	TULP1	ORPHA:791
HP:0001574	Abnormality of the integument	5995	RGR	ORPHA:791
HP:0001574	Abnormality of the integument	9129	PRPF3	ORPHA:791
HP:0001574	Abnormality of the integument	3617	IMPG1	ORPHA:791
HP:0001574	Abnormality of the integument	94137	RP1L1	ORPHA:791
HP:0001574	Abnormality of the integument	5158	PDE6B	ORPHA:791
HP:0001574	Abnormality of the integument	6102	RP2	ORPHA:791
HP:0001574	Abnormality of the integument	55857	KIZ	ORPHA:791
HP:0001574	Abnormality of the integument	4901	NRL	ORPHA:791
HP:0001574	Abnormality of the integument	10594	PRPF8	ORPHA:791
HP:0001574	Abnormality of the integument	6295	SAG	ORPHA:791
HP:0001574	Abnormality of the integument	79947	DHDDS	ORPHA:791
HP:0001574	Abnormality of the integument	23385	NCSTN	OMIM:142690
HP:0001574	Abnormality of the integument	144811	LACC1	ORPHA:85414
HP:0001574	Abnormality of the integument	144811	LACC1	OMIM:618795
HP:0001574	Abnormality of the integument	4282	MIF	ORPHA:85414
HP:0001574	Abnormality of the integument	8737	RIPK1	OMIM:618108
HP:0001574	Abnormality of the integument	55788	LMBRD1	OMIM:277380
HP:0001574	Abnormality of the integument	55788	LMBRD1	ORPHA:79284
HP:0001574	Abnormality of the integument	79631	EFL1	ORPHA:811
HP:0001574	Abnormality of the integument	5994	RFXAP	ORPHA:572
HP:0001574	Abnormality of the integument	4261	CIITA	ORPHA:572
HP:0001574	Abnormality of the integument	5993	RFX5	ORPHA:572
HP:0001574	Abnormality of the integument	8625	RFXANK	ORPHA:572
HP:0001574	Abnormality of the integument	5699	PSMB10	OMIM:619175
HP:0001574	Abnormality of the integument	7128	TNFAIP3	OMIM:616744
HP:0001574	Abnormality of the integument	23152	CIC	OMIM:617600
HP:0001574	Abnormality of the integument	84701	COX4I2	OMIM:612714
HP:0001574	Abnormality of the integument	4069	LYZ	OMIM:105200
HP:0001574	Abnormality of the integument	5971	RELB	OMIM:617585
HP:0001574	Abnormality of the integument	5788	PTPRC	OMIM:619924
HP:0001574	Abnormality of the integument	5692	PSMB4	OMIM:617591
HP:0001574	Abnormality of the integument	5698	PSMB9	OMIM:617591
HP:0001574	Abnormality of the integument	2000	ELF4	OMIM:301074
HP:0001574	Abnormality of the integument	6809	STX3	ORPHA:2290
HP:0001574	Abnormality of the integument	4645	MYO5B	ORPHA:2290
HP:0001574	Abnormality of the integument	4645	MYO5B	OMIM:619868
HP:0001574	Abnormality of the integument	80270	HSD3B7	ORPHA:79301
HP:0001574	Abnormality of the integument	5314	PKHD1	ORPHA:53035
HP:0001574	Abnormality of the integument	84936	ZFYVE19	OMIM:619849
HP:0001574	Abnormality of the integument	5774	PTPN3	ORPHA:70567
HP:0001574	Abnormality of the integument	51473	DCDC2	OMIM:617394
HP:0001574	Abnormality of the integument	63894	VIPAS39	OMIM:613404
HP:0001574	Abnormality of the integument	8482	SEMA7A	OMIM:619874
HP:0001574	Abnormality of the integument	9414	TJP2	OMIM:607748
HP:0001574	Abnormality of the integument	54532	USP53	OMIM:619658
HP:0001574	Abnormality of the integument	133396	IL31RA	OMIM:613955
HP:0001574	Abnormality of the integument	375056	MIA3	OMIM:619269
HP:0001574	Abnormality of the integument	113220	KIF12	OMIM:619662
HP:0001574	Abnormality of the integument	3988	LIPA	ORPHA:75234
HP:0001574	Abnormality of the integument	144165	PRICKLE1	ORPHA:308
HP:0001574	Abnormality of the integument	6096	RORB	OMIM:618357
HP:0001574	Abnormality of the integument	10845	CLPX	OMIM:618015
HP:0001574	Abnormality of the integument	1656	DDX6	OMIM:618653
HP:0001574	Abnormality of the integument	375748	ERCC6L2	OMIM:615715
HP:0001574	Abnormality of the integument	7066	THPO	ORPHA:3319
HP:0001574	Abnormality of the integument	128869	PIGU	OMIM:618590
HP:0001574	Abnormality of the integument	55967	NDUFA12	OMIM:618244
HP:0001574	Abnormality of the integument	55967	NDUFA12	ORPHA:255241
HP:0001574	Abnormality of the integument	55148	UBR7	OMIM:619189
HP:0001574	Abnormality of the integument	9851	KIAA0753	OMIM:619479
HP:0001574	Abnormality of the integument	25915	NDUFAF3	ORPHA:70474
HP:0001574	Abnormality of the integument	4714	NDUFB8	ORPHA:70474
HP:0001574	Abnormality of the integument	9997	SCO2	ORPHA:70474
HP:0001574	Abnormality of the integument	6834	SURF1	ORPHA:70474
HP:0001574	Abnormality of the integument	6834	SURF1	ORPHA:255241
HP:0001574	Abnormality of the integument	80704	SLC19A3	ORPHA:255241
HP:0001574	Abnormality of the integument	91942	NDUFAF2	ORPHA:255241
HP:0001574	Abnormality of the integument	4723	NDUFV1	ORPHA:255241
HP:0001574	Abnormality of the integument	55572	FOXRED1	ORPHA:255241
HP:0001574	Abnormality of the integument	4729	NDUFV2	ORPHA:255241
HP:0001574	Abnormality of the integument	51204	TACO1	ORPHA:255241
HP:0001574	Abnormality of the integument	4724	NDUFS4	ORPHA:255241
HP:0001574	Abnormality of the integument	4728	NDUFS8	ORPHA:255241
HP:0001574	Abnormality of the integument	4722	NDUFS3	ORPHA:255241
HP:0001574	Abnormality of the integument	79133	NDUFAF5	ORPHA:255241
HP:0001574	Abnormality of the integument	5160	PDHA1	ORPHA:255241
HP:0001574	Abnormality of the integument	100131801	PET100	ORPHA:255241
HP:0001574	Abnormality of the integument	1355	COX15	ORPHA:255241
HP:0001574	Abnormality of the integument	1892	ECHS1	ORPHA:255241
HP:0001574	Abnormality of the integument	123263	MTFMT	ORPHA:255241
HP:0001574	Abnormality of the integument	51079	NDUFA13	ORPHA:255241
HP:0001574	Abnormality of the integument	374291	NDUFS7	ORPHA:255241
HP:0001574	Abnormality of the integument	4705	NDUFA10	ORPHA:255241
HP:0001574	Abnormality of the integument	51601	LIPT1	ORPHA:255241
HP:0001574	Abnormality of the integument	4719	NDUFS1	ORPHA:255241
HP:0001574	Abnormality of the integument	4695	NDUFA2	ORPHA:255241
HP:0001574	Abnormality of the integument	4697	NDUFA4	ORPHA:255241
HP:0001574	Abnormality of the integument	4704	NDUFA9	ORPHA:255241
HP:0001574	Abnormality of the integument	54941	RNF125	OMIM:616260
HP:0001574	Abnormality of the integument	11011	TLK2	OMIM:618050
HP:0001574	Abnormality of the integument	116150	NUS1	OMIM:617082
HP:0001574	Abnormality of the integument	137492	VPS37A	OMIM:614898
HP:0001574	Abnormality of the integument	4308	TRPM1	OMIM:613216
HP:0001574	Abnormality of the integument	1654	DDX3X	ORPHA:457260
HP:0001574	Abnormality of the integument	1616	DAXX	ORPHA:100075
HP:0001574	Abnormality of the integument	6650	CAPN15	OMIM:619318
HP:0001574	Abnormality of the integument	411	ARSB	OMIM:253200
HP:0001574	Abnormality of the integument	5447	POR	ORPHA:95699
HP:0001574	Abnormality of the integument	2720	GLB1	ORPHA:79255
HP:0001574	Abnormality of the integument	3284	HSD3B2	ORPHA:90791
HP:0001574	Abnormality of the integument	2530	FUT8	OMIM:618005
HP:0001574	Abnormality of the integument	7965	AIMP2	OMIM:618006
HP:0001574	Abnormality of the integument	79140	CCDC28B	OMIM:209900
HP:0001574	Abnormality of the integument	4247	MGAT2	OMIM:212066
HP:0001574	Abnormality of the integument	4247	MGAT2	ORPHA:79329
HP:0001574	Abnormality of the integument	1267	CNP	OMIM:619071
HP:0001574	Abnormality of the integument	84504	NKX6-2	ORPHA:527497
HP:0001574	Abnormality of the integument	2737	GLI3	OMIM:175700
HP:0001574	Abnormality of the integument	10236	HNRNPR	OMIM:620073
HP:0001574	Abnormality of the integument	57477	SHROOM4	ORPHA:85288
HP:0001574	Abnormality of the integument	9373	PLAA	ORPHA:521426
HP:0001574	Abnormality of the integument	9373	PLAA	OMIM:617527
HP:0001574	Abnormality of the integument	6603	SMARCD2	OMIM:617475
HP:0001574	Abnormality of the integument	4848	CNOT2	OMIM:618608
HP:0001574	Abnormality of the integument	55553	SOX6	OMIM:618971
HP:0001574	Abnormality of the integument	11284	PNKP	ORPHA:459033
HP:0001574	Abnormality of the integument	1729	DIAPH1	ORPHA:2573
HP:0001574	Abnormality of the integument	57674	RNF213	ORPHA:2573
HP:0001574	Abnormality of the integument	83605	CCM2	OMIM:603284
HP:0001574	Abnormality of the integument	8813	DPM1	OMIM:608799
HP:0001574	Abnormality of the integument	57654	UVSSA	OMIM:614640
HP:0001574	Abnormality of the integument	4361	MRE11	OMIM:604391
HP:0001574	Abnormality of the integument	659	BMPR2	OMIM:178600
HP:0001574	Abnormality of the integument	165918	RNF168	ORPHA:420741
HP:0001574	Abnormality of the integument	7355	SLC35A2	ORPHA:356961
HP:0001574	Abnormality of the integument	28960	DCPS	OMIM:616459
HP:0001574	Abnormality of the integument	3991	LIPE	OMIM:615980
HP:0001574	Abnormality of the integument	344	APOC2	OMIM:207750
HP:0001574	Abnormality of the integument	3990	LIPC	OMIM:614025
HP:0001574	Abnormality of the integument	3990	LIPC	ORPHA:140905
HP:0001574	Abnormality of the integument	338328	GPIHBP1	OMIM:615947
HP:0001574	Abnormality of the integument	4126	MANBA	OMIM:248510
HP:0001574	Abnormality of the integument	92579	G6PC3	OMIM:612541
HP:0001574	Abnormality of the integument	212	ALAS2	OMIM:300751
HP:0001574	Abnormality of the integument	2137	EXTL3	OMIM:617425
HP:0001574	Abnormality of the integument	57609	DIP2B	OMIM:136630
HP:0001574	Abnormality of the integument	83938	LRMDA	OMIM:615179
HP:0001574	Abnormality of the integument	89781	HPS4	OMIM:614073
HP:0001574	Abnormality of the integument	11234	HPS5	OMIM:614074
HP:0001574	Abnormality of the integument	84062	DTNBP1	OMIM:614076
HP:0001574	Abnormality of the integument	249	ALPL	OMIM:241500
HP:0001574	Abnormality of the integument	249	ALPL	OMIM:241510
HP:0001574	Abnormality of the integument	114548	NLRP3	OMIM:617772
HP:0001574	Abnormality of the integument	114548	NLRP3	ORPHA:575
HP:0001574	Abnormality of the integument	114548	NLRP3	ORPHA:47045
HP:0001574	Abnormality of the integument	114548	NLRP3	ORPHA:1451
HP:0001574	Abnormality of the integument	114548	NLRP3	OMIM:120100
HP:0001574	Abnormality of the integument	7454	WAS	ORPHA:906
HP:0001574	Abnormality of the integument	7456	WIPF1	ORPHA:906
HP:0001574	Abnormality of the integument	7512	XPNPEP2	ORPHA:100057
HP:0001574	Abnormality of the integument	58484	NLRC4	OMIM:616050
HP:0001574	Abnormality of the integument	58484	NLRC4	OMIM:616115
HP:0001574	Abnormality of the integument	1369	CPN1	OMIM:212070
HP:0001574	Abnormality of the integument	80216	ALPK1	OMIM:614979
HP:0001574	Abnormality of the integument	2161	F12	ORPHA:330
HP:0001574	Abnormality of the integument	81846	SBF2	ORPHA:99956
HP:0001574	Abnormality of the integument	3636	INPPL1	OMIM:258480
HP:0001574	Abnormality of the integument	10367	MICU1	OMIM:615673
HP:0001574	Abnormality of the integument	23086	EXPH5	OMIM:615028
HP:0001574	Abnormality of the integument	1027	CDKN1B	ORPHA:276152
HP:0001574	Abnormality of the integument	217	ALDH2	OMIM:610251
HP:0001574	Abnormality of the integument	112858	TP53RK	OMIM:617730
HP:0001574	Abnormality of the integument	23135	KDM6B	OMIM:618505
HP:0001574	Abnormality of the integument	60	ACTB	ORPHA:64755
HP:0001574	Abnormality of the integument	79415	CYBC1	ORPHA:379
HP:0001574	Abnormality of the integument	8869	ST3GAL5	OMIM:609056
HP:0001574	Abnormality of the integument	716	C1S	ORPHA:75392
HP:0001574	Abnormality of the integument	1663	DDX11	OMIM:613398
HP:0001574	Abnormality of the integument	388698	FLG2	OMIM:618084
HP:0001574	Abnormality of the integument	64834	ELOVL1	OMIM:618527
HP:0001574	Abnormality of the integument	10654	PMVK	OMIM:175800
HP:0001574	Abnormality of the integument	2744	GLS	OMIM:618339
HP:0001574	Abnormality of the integument	5624	PROC	OMIM:176860
HP:0001574	Abnormality of the integument	5624	PROC	ORPHA:745
HP:0001574	Abnormality of the integument	116519	APOA5	OMIM:145750
HP:0001574	Abnormality of the integument	1144	CHRND	OMIM:253290
HP:0001574	Abnormality of the integument	1134	CHRNA1	OMIM:253290
HP:0001574	Abnormality of the integument	3785	KCNQ2	ORPHA:439218
HP:0001574	Abnormality of the integument	4558	MT-TF	ORPHA:550
HP:0001574	Abnormality of the integument	4572	MT-TQ	ORPHA:550
HP:0001574	Abnormality of the integument	4513	MT-CO2	ORPHA:550
HP:0001574	Abnormality of the integument	4578	MT-TW	ORPHA:550
HP:0001574	Abnormality of the integument	4567	MT-TL1	ORPHA:550
HP:0001574	Abnormality of the integument	4574	MT-TS1	ORPHA:550
HP:0001574	Abnormality of the integument	4575	MT-TS2	ORPHA:550
HP:0001574	Abnormality of the integument	4564	MT-TH	ORPHA:550
HP:0001574	Abnormality of the integument	847	CAT	ORPHA:926
HP:0001574	Abnormality of the integument	23126	POGZ	ORPHA:468678
HP:0001574	Abnormality of the integument	27022	FOXD3	OMIM:607836
HP:0001574	Abnormality of the integument	56259	CTNNBL1	OMIM:619846
HP:0001574	Abnormality of the integument	28234	SLCO1B3	ORPHA:3111
HP:0001574	Abnormality of the integument	10599	SLCO1B1	ORPHA:3111
HP:0001574	Abnormality of the integument	6710	SPTB	OMIM:617948
HP:0001574	Abnormality of the integument	6521	SLC4A1	ORPHA:3202
HP:0001574	Abnormality of the integument	9780	PIEZO1	ORPHA:3202
HP:0001574	Abnormality of the integument	3783	KCNN4	ORPHA:3202
HP:0001574	Abnormality of the integument	6005	RHAG	ORPHA:3203
HP:0001574	Abnormality of the integument	2615	LRRC32	OMIM:619074
HP:0001574	Abnormality of the integument	84433	CARD11	OMIM:617638
HP:0001574	Abnormality of the integument	1080	CFTR	ORPHA:498359
HP:0001574	Abnormality of the integument	10847	SRCAP	OMIM:136140
HP:0001574	Abnormality of the integument	6340	SCNN1G	ORPHA:171876
HP:0001574	Abnormality of the integument	6337	SCNN1A	ORPHA:171876
HP:0001574	Abnormality of the integument	6338	SCNN1B	ORPHA:171876
HP:0001574	Abnormality of the integument	23102	TBC1D2B	ORPHA:397973
HP:0001574	Abnormality of the integument	22880	MORC2	ORPHA:466768
HP:0001574	Abnormality of the integument	3716	JAK1	OMIM:618999
HP:0001574	Abnormality of the integument	10019	SH2B3	OMIM:133100
HP:0001574	Abnormality of the integument	2057	EPOR	OMIM:133100
HP:0001574	Abnormality of the integument	7428	VHL	OMIM:263400
HP:0001574	Abnormality of the integument	7922	SLC39A7	OMIM:619693
HP:0001574	Abnormality of the integument	79755	ZNF750	OMIM:610227
HP:0001574	Abnormality of the integument	9939	RBM8A	OMIM:274000
HP:0001574	Abnormality of the integument	1312	COMT	ORPHA:567
HP:0001574	Abnormality of the integument	221037	JMJD1C	ORPHA:567
HP:0001574	Abnormality of the integument	6239	RREB1	ORPHA:567
HP:0001574	Abnormality of the integument	7290	HIRA	ORPHA:567
HP:0001574	Abnormality of the integument	9632	SEC24C	ORPHA:567
HP:0001574	Abnormality of the integument	7353	UFD1	ORPHA:567
HP:0001574	Abnormality of the integument	421	ARVCF	ORPHA:567
HP:0001574	Abnormality of the integument	7086	TKT	ORPHA:488618
HP:0001574	Abnormality of the integument	22827	PUF60	ORPHA:508498
HP:0001574	Abnormality of the integument	80267	EDEM3	OMIM:619493
HP:0001574	Abnormality of the integument	1028	CDKN1C	OMIM:130650
HP:0001574	Abnormality of the integument	10984	KCNQ1OT1	OMIM:130650
HP:0001574	Abnormality of the integument	3481	IGF2	OMIM:130650
HP:0001574	Abnormality of the integument	3481	IGF2	ORPHA:231140
HP:0001574	Abnormality of the integument	3784	KCNQ1	OMIM:130650
HP:0001574	Abnormality of the integument	2776	GNAQ	OMIM:163000
HP:0001574	Abnormality of the integument	2776	GNAQ	ORPHA:624
HP:0001574	Abnormality of the integument	283120	H19	ORPHA:231140
HP:0001574	Abnormality of the integument	1836	SLC26A2	OMIM:222600
HP:0001574	Abnormality of the integument	4591	TRIM37	OMIM:253250
HP:0001574	Abnormality of the integument	1545	CYP1B1	ORPHA:98976
HP:0001574	Abnormality of the integument	4053	LTBP2	ORPHA:98976
HP:0001574	Abnormality of the integument	4653	MYOC	ORPHA:98976
HP:0001574	Abnormality of the integument	7010	TEK	ORPHA:98976
HP:0001574	Abnormality of the integument	340024	SLC6A19	ORPHA:2116
HP:0001574	Abnormality of the integument	57393	CLTRN	ORPHA:2116
HP:0001574	Abnormality of the integument	2077	ERF	ORPHA:207
HP:0001574	Abnormality of the integument	2581	GALC	ORPHA:206436
HP:0001574	Abnormality of the integument	5660	PSAP	ORPHA:206436
HP:0001574	Abnormality of the integument	7132	TNFRSF1A	OMIM:142680
HP:0001574	Abnormality of the integument	7132	TNFRSF1A	ORPHA:32960
HP:0001574	Abnormality of the integument	3977	LIFR	OMIM:601559
HP:0001574	Abnormality of the integument	5880	RAC2	ORPHA:183707
HP:0001574	Abnormality of the integument	5880	RAC2	OMIM:608203
HP:0001574	Abnormality of the integument	3689	ITGB2	OMIM:116920
HP:0001574	Abnormality of the integument	3835	KIF22	OMIM:603546
HP:0001574	Abnormality of the integument	1303	COL12A1	ORPHA:536516
HP:0001574	Abnormality of the integument	7148	TNXB	OMIM:606408
HP:0001574	Abnormality of the integument	633	BGN	OMIM:300989
HP:0001574	Abnormality of the integument	3075	CFH	ORPHA:244242
HP:0001574	Abnormality of the integument	4179	CD46	ORPHA:244242
HP:0001574	Abnormality of the integument	101101692	HELLPAR	ORPHA:244242
HP:0001574	Abnormality of the integument	11280	SCN11A	OMIM:615548
HP:0001574	Abnormality of the integument	9731	CEP104	OMIM:619988
HP:0001574	Abnormality of the integument	57538	ALPK3	OMIM:618052
HP:0001574	Abnormality of the integument	55640	FLVCR2	OMIM:225790
HP:0001574	Abnormality of the integument	60681	FKBP10	OMIM:259450
HP:0001574	Abnormality of the integument	60681	FKBP10	ORPHA:2771
HP:0001574	Abnormality of the integument	5352	PLOD2	ORPHA:2771
HP:0001574	Abnormality of the integument	5352	PLOD2	OMIM:609220
HP:0001574	Abnormality of the integument	10082	GPC6	OMIM:258315
HP:0001574	Abnormality of the integument	1147	CHUK	OMIM:619339
HP:0001574	Abnormality of the integument	57211	ADGRG6	OMIM:616503
HP:0001574	Abnormality of the integument	9060	PAPSS2	OMIM:612847
HP:0001574	Abnormality of the integument	1201	CLN3	ORPHA:228346
HP:0001574	Abnormality of the integument	175	AGA	OMIM:208400
HP:0001574	Abnormality of the integument	149233	IL23R	ORPHA:117
HP:0001574	Abnormality of the integument	3586	IL10	ORPHA:117
HP:0001574	Abnormality of the integument	1230	CCR1	ORPHA:117
HP:0001574	Abnormality of the integument	101928376	IL12A-AS1	ORPHA:117
HP:0001574	Abnormality of the integument	7099	TLR4	ORPHA:117
HP:0001574	Abnormality of the integument	3459	IFNGR1	ORPHA:117
HP:0001574	Abnormality of the integument	720	C4A	ORPHA:117
HP:0001574	Abnormality of the integument	337867	UBAC2	ORPHA:117
HP:0001574	Abnormality of the integument	51752	ERAP1	ORPHA:117
HP:0001574	Abnormality of the integument	8302	KLRC4	ORPHA:117
HP:0001574	Abnormality of the integument	23474	ETHE1	ORPHA:51188
HP:0001574	Abnormality of the integument	23474	ETHE1	OMIM:602473
HP:0001574	Abnormality of the integument	189	AGXT	OMIM:259900
HP:0001574	Abnormality of the integument	10801	SEPTIN9	ORPHA:2901
HP:0001574	Abnormality of the integument	1315	COPB1	OMIM:619255
HP:0001574	Abnormality of the integument	4087	SMAD2	OMIM:619656
HP:0001574	Abnormality of the integument	84133	ZNRF3	ORPHA:1501
HP:0001574	Abnormality of the integument	4015	LOX	OMIM:617168
HP:0001574	Abnormality of the integument	1742	DLG4	OMIM:618793
HP:0001574	Abnormality of the integument	7042	TGFB2	OMIM:614816
HP:0001574	Abnormality of the integument	4771	NF2	ORPHA:2495
HP:0001574	Abnormality of the integument	3767	KCNJ11	ORPHA:276580
HP:0001574	Abnormality of the integument	8518	ELP1	OMIM:223900
HP:0001574	Abnormality of the integument	1743	DLST	ORPHA:29072
HP:0001574	Abnormality of the integument	4191	MDH2	ORPHA:29072
HP:0001574	Abnormality of the integument	6389	SDHA	ORPHA:29072
HP:0001574	Abnormality of the integument	23095	KIF1B	ORPHA:29072
HP:0001574	Abnormality of the integument	8402	SLC25A11	ORPHA:29072
HP:0001574	Abnormality of the integument	54949	SDHAF2	ORPHA:29072
HP:0001574	Abnormality of the integument	55654	TMEM127	ORPHA:29072
HP:0001574	Abnormality of the integument	4149	MAX	ORPHA:29072
HP:0001574	Abnormality of the integument	7351	UCP2	ORPHA:276556
HP:0001574	Abnormality of the integument	1788	DNMT3A	ORPHA:276621
HP:0001574	Abnormality of the integument	2034	EPAS1	ORPHA:276621
HP:0001574	Abnormality of the integument	6927	HNF1A	ORPHA:324575
HP:0001574	Abnormality of the integument	6833	ABCC8	ORPHA:276575
HP:0001574	Abnormality of the integument	229	ALDOB	ORPHA:469
HP:0001574	Abnormality of the integument	1798	DPAGT1	ORPHA:86309
HP:0001574	Abnormality of the integument	81794	ADAMTS10	ORPHA:3449
HP:0001574	Abnormality of the integument	81794	ADAMTS10	OMIM:277600
HP:0001574	Abnormality of the integument	6261	RYR1	ORPHA:324581
HP:0001574	Abnormality of the integument	4054	LTBP3	OMIM:617809
HP:0001574	Abnormality of the integument	56992	KIF15	ORPHA:261323
HP:0001574	Abnormality of the integument	255738	PCSK9	OMIM:603776
HP:0001574	Abnormality of the integument	338	APOB	OMIM:144010
HP:0001574	Abnormality of the integument	336	APOA2	OMIM:143890
HP:0001574	Abnormality of the integument	2053	EPHX2	OMIM:143890
HP:0001574	Abnormality of the integument	10842	PPP1R17	OMIM:143890
HP:0001574	Abnormality of the integument	2690	GHR	OMIM:143890
HP:0001574	Abnormality of the integument	3949	LDLR	OMIM:143890
HP:0001574	Abnormality of the integument	2538	G6PC1	OMIM:232200
HP:0001574	Abnormality of the integument	1593	CYP27A1	OMIM:213700
HP:0001574	Abnormality of the integument	4023	LPL	OMIM:144250
HP:0001574	Abnormality of the integument	7274	TTPA	OMIM:277460
HP:0001574	Abnormality of the integument	161742	SPRED1	ORPHA:137605
HP:0001574	Abnormality of the integument	2542	SLC37A4	OMIM:232220
HP:0001574	Abnormality of the integument	2542	SLC37A4	OMIM:232240
HP:0001574	Abnormality of the integument	2542	SLC37A4	ORPHA:79259
HP:0001574	Abnormality of the integument	64241	ABCG8	OMIM:210250
HP:0001574	Abnormality of the integument	335	APOA1	ORPHA:425
HP:0001574	Abnormality of the integument	19	ABCA1	ORPHA:425
HP:0001574	Abnormality of the integument	54892	NCAPG2	OMIM:618460
HP:0001574	Abnormality of the integument	5063	PAK3	OMIM:300558
HP:0001574	Abnormality of the integument	11133	KPTN	OMIM:615637
HP:0001574	Abnormality of the integument	1822	ATN1	OMIM:618494
HP:0001574	Abnormality of the integument	23169	SLC35D1	ORPHA:3144
HP:0001574	Abnormality of the integument	23451	SF3B1	ORPHA:75564
HP:0001574	Abnormality of the integument	9555	MACROH2A1	ORPHA:1275
HP:0001574	Abnormality of the integument	5307	PITX1	ORPHA:1275
HP:0001574	Abnormality of the integument	658	BMPR1B	ORPHA:93384
HP:0001574	Abnormality of the integument	114803	MYSM1	ORPHA:508542
HP:0001574	Abnormality of the integument	5745	PTH1R	ORPHA:296
HP:0001574	Abnormality of the integument	3418	IDH2	ORPHA:296
HP:0001574	Abnormality of the integument	3418	IDH2	ORPHA:163634
HP:0001574	Abnormality of the integument	567	B2M	OMIM:241600
HP:0001574	Abnormality of the integument	4982	TNFRSF11B	ORPHA:2801
HP:0001574	Abnormality of the integument	8792	TNFRSF11A	ORPHA:2801
HP:0001574	Abnormality of the integument	2521	FUS	ORPHA:99967
HP:0001574	Abnormality of the integument	1649	DDIT3	ORPHA:99967
HP:0001574	Abnormality of the integument	3593	IL12B	ORPHA:3287
HP:0001574	Abnormality of the integument	6945	MLX	ORPHA:3287
HP:0001574	Abnormality of the integument	5979	RET	OMIM:171400
HP:0001574	Abnormality of the integument	6711	SPTBN1	OMIM:619475
HP:0001574	Abnormality of the integument	3572	IL6ST	OMIM:619752
HP:0001574	Abnormality of the integument	331	XIAP	OMIM:300635
HP:0001574	Abnormality of the integument	59335	PRDM12	OMIM:616488
HP:0001574	Abnormality of the integument	5238	PGM3	ORPHA:443811
HP:0001574	Abnormality of the integument	83706	FERMT3	OMIM:612840
HP:0001574	Abnormality of the integument	3570	IL6R	OMIM:618944
HP:0001574	Abnormality of the integument	3426	CFI	OMIM:610984
HP:0001574	Abnormality of the integument	54440	SASH3	OMIM:301082
HP:0001574	Abnormality of the integument	4780	NFE2L2	OMIM:617744
HP:0001574	Abnormality of the integument	5294	PIK3CG	OMIM:619802
HP:0001574	Abnormality of the integument	9837	GINS1	OMIM:617827
HP:0001574	Abnormality of the integument	1991	ELANE	ORPHA:2686
HP:0001574	Abnormality of the integument	1991	ELANE	ORPHA:486
HP:0001574	Abnormality of the integument	4615	MYD88	OMIM:612260
HP:0001574	Abnormality of the integument	57591	MRTFA	OMIM:618847
HP:0001574	Abnormality of the integument	2672	GFI1	ORPHA:486
HP:0001574	Abnormality of the integument	6729	SRP54	ORPHA:486
HP:0001574	Abnormality of the integument	81570	CLPB	ORPHA:486
HP:0001574	Abnormality of the integument	26258	BLOC1S6	OMIM:614171
HP:0001574	Abnormality of the integument	4153	MBL2	OMIM:614372
HP:0001574	Abnormality of the integument	8883	NAE1	OMIM:620210
HP:0001574	Abnormality of the integument	6929	TCF3	ORPHA:33110
HP:0001574	Abnormality of the integument	973	CD79A	ORPHA:33110
HP:0001574	Abnormality of the integument	974	CD79B	ORPHA:33110
HP:0001574	Abnormality of the integument	3543	IGLL1	ORPHA:33110
HP:0001574	Abnormality of the integument	3507	IGHM	ORPHA:33110
HP:0001574	Abnormality of the integument	29760	BLNK	ORPHA:33110
HP:0001574	Abnormality of the integument	56262	LRRC8A	ORPHA:33110
HP:0001574	Abnormality of the integument	5308	PITX2	ORPHA:782
HP:0001574	Abnormality of the integument	2296	FOXC1	ORPHA:782
HP:0001574	Abnormality of the integument	6535	SLC6A8	ORPHA:52503
HP:0001574	Abnormality of the integument	26281	FGF20	OMIM:615721
HP:0001574	Abnormality of the integument	79087	ALG12	ORPHA:79324
HP:0001574	Abnormality of the integument	2879	GPX4	OMIM:250220
HP:0001574	Abnormality of the integument	3858	KRT10	OMIM:607602
HP:0001574	Abnormality of the integument	5333	PLCD1	OMIM:151600
HP:0001574	Abnormality of the integument	91754	NEK9	ORPHA:64754
HP:0001574	Abnormality of the integument	8517	IKBKG	ORPHA:464
HP:0001574	Abnormality of the integument	23630	KCNE5	ORPHA:86818
HP:0001574	Abnormality of the integument	2182	ACSL4	ORPHA:86818
HP:0001574	Abnormality of the integument	9949	AMMECR1	ORPHA:86818
HP:0001574	Abnormality of the integument	3709	ITPR2	OMIM:106190
HP:0001574	Abnormality of the integument	6716	SRD5A2	OMIM:264600
HP:0001574	Abnormality of the integument	1747	DLX3	OMIM:190320
HP:0001574	Abnormality of the integument	3832	KIF11	ORPHA:2526
HP:0001574	Abnormality of the integument	4255	MGMT	ORPHA:618
HP:0001574	Abnormality of the integument	54386	TERF2IP	ORPHA:618
HP:0001574	Abnormality of the integument	25913	POT1	ORPHA:618
HP:0001574	Abnormality of the integument	1030	CDKN2B	ORPHA:618
HP:0001574	Abnormality of the integument	4942	OAT	ORPHA:414
HP:0001574	Abnormality of the integument	4854	NOTCH3	ORPHA:2591
HP:0001574	Abnormality of the integument	5159	PDGFRB	ORPHA:2591
HP:0001574	Abnormality of the integument	64377	CHST8	OMIM:616265
HP:0001574	Abnormality of the integument	6774	STAT3	ORPHA:2314
HP:0001574	Abnormality of the integument	3973	LHCGR	ORPHA:3000
HP:0001574	Abnormality of the integument	92344	GORAB	OMIM:231070
HP:0001574	Abnormality of the integument	1476	CSTB	ORPHA:248
HP:0001574	Abnormality of the integument	224	ALDH3A2	OMIM:270200
HP:0001574	Abnormality of the integument	5083	PAX9	OMIM:604625
HP:0001574	Abnormality of the integument	79644	SRD5A3	ORPHA:324737
HP:0001574	Abnormality of the integument	5567	PRKACB	ORPHA:289
HP:0001574	Abnormality of the integument	2735	GLI1	ORPHA:289
HP:0001574	Abnormality of the integument	2121	EVC	ORPHA:289
HP:0001574	Abnormality of the integument	51626	DYNC2LI1	ORPHA:289
HP:0001574	Abnormality of the integument	132884	EVC2	ORPHA:289
HP:0001574	Abnormality of the integument	118429	ANTXR2	ORPHA:2028
HP:0001574	Abnormality of the integument	80781	COL18A1	ORPHA:1571
HP:0001574	Abnormality of the integument	5062	PAK2	ORPHA:1571
HP:0001574	Abnormality of the integument	6023	RMRP	OMIM:250460
HP:0001574	Abnormality of the integument	11005	SPINK5	ORPHA:634
HP:0001574	Abnormality of the integument	3123	HLA-DRB1	ORPHA:397
HP:0001574	Abnormality of the integument	3123	HLA-DRB1	ORPHA:797
HP:0001574	Abnormality of the integument	8974	P4HA2	ORPHA:397
HP:0001574	Abnormality of the integument	7421	VDR	ORPHA:93160
HP:0001574	Abnormality of the integument	4791	NFKB2	ORPHA:293978
HP:0001574	Abnormality of the integument	51099	ABHD5	OMIM:275630
HP:0001574	Abnormality of the integument	51099	ABHD5	ORPHA:98907
HP:0001574	Abnormality of the integument	6720	SREBF1	OMIM:158310
HP:0001574	Abnormality of the integument	162	AP1B1	OMIM:242150
HP:0001574	Abnormality of the integument	4790	NFKB1	OMIM:616576
HP:0001574	Abnormality of the integument	3141	HLCS	OMIM:253270
HP:0001574	Abnormality of the integument	3141	HLCS	ORPHA:79242
HP:0001574	Abnormality of the integument	10908	PNPLA6	OMIM:275400
HP:0001574	Abnormality of the integument	5818	NECTIN1	ORPHA:3253
HP:0001574	Abnormality of the integument	1584	CYP11B1	ORPHA:90795
HP:0001574	Abnormality of the integument	90	ACVR1	OMIM:135100
HP:0001574	Abnormality of the integument	90	ACVR1	ORPHA:337
HP:0001574	Abnormality of the integument	7780	SLC30A2	OMIM:608118
HP:0001574	Abnormality of the integument	284058	KANSL1	ORPHA:363958
HP:0001574	Abnormality of the integument	284058	KANSL1	ORPHA:363965
HP:0001574	Abnormality of the integument	54453	RIN2	OMIM:613075
HP:0001574	Abnormality of the integument	50814	NSDHL	OMIM:308050
HP:0001574	Abnormality of the integument	686	BTD	OMIM:253260
HP:0001574	Abnormality of the integument	686	BTD	ORPHA:79241
HP:0001574	Abnormality of the integument	3117	HLA-DQA1	OMIM:212750
HP:0001574	Abnormality of the integument	3119	HLA-DQB1	OMIM:212750
HP:0001574	Abnormality of the integument	64359	NXN	ORPHA:1507
HP:0001574	Abnormality of the integument	4920	ROR2	ORPHA:1507
HP:0001574	Abnormality of the integument	64087	MCCC2	OMIM:210210
HP:0001574	Abnormality of the integument	5191	PEX7	OMIM:215100
HP:0001574	Abnormality of the integument	1281	COL3A1	ORPHA:286
HP:0001574	Abnormality of the integument	215	ABCD1	OMIM:300100
HP:0001574	Abnormality of the integument	2313	FLI1	OMIM:617443
HP:0001574	Abnormality of the integument	374393	FAM111B	OMIM:615704
HP:0001574	Abnormality of the integument	165	AEBP1	ORPHA:536532
HP:0001574	Abnormality of the integument	55131	RBM28	ORPHA:157954
HP:0001574	Abnormality of the integument	55131	RBM28	OMIM:612079
HP:0001574	Abnormality of the integument	23312	DMXL2	ORPHA:453533
HP:0001574	Abnormality of the integument	8456	FOXN1	OMIM:601705
HP:0001574	Abnormality of the integument	1857	DVL3	ORPHA:3107
HP:0001574	Abnormality of the integument	7474	WNT5A	ORPHA:3107
HP:0001574	Abnormality of the integument	1855	DVL1	ORPHA:3107
HP:0001574	Abnormality of the integument	2535	FZD2	ORPHA:3107
HP:0001574	Abnormality of the integument	1909	EDNRA	OMIM:616367
HP:0001574	Abnormality of the integument	80067	DCAF17	ORPHA:3464
HP:0001574	Abnormality of the integument	80067	DCAF17	OMIM:241080
HP:0001574	Abnormality of the integument	51284	TLR7	OMIM:301080
HP:0001574	Abnormality of the integument	5896	RAG1	OMIM:603554
HP:0001574	Abnormality of the integument	5896	RAG1	ORPHA:39041
HP:0001574	Abnormality of the integument	5897	RAG2	OMIM:603554
HP:0001574	Abnormality of the integument	5897	RAG2	ORPHA:39041
HP:0001574	Abnormality of the integument	3575	IL7R	ORPHA:169154
HP:0001574	Abnormality of the integument	3575	IL7R	ORPHA:39041
HP:0001574	Abnormality of the integument	4256	MGP	ORPHA:85202
HP:0001574	Abnormality of the integument	8481	OFD1	OMIM:311200
HP:0001574	Abnormality of the integument	8481	OFD1	ORPHA:2750
HP:0001574	Abnormality of the integument	2512	FTL	OMIM:615604
HP:0001574	Abnormality of the integument	7841	MOGS	ORPHA:79330
HP:0001574	Abnormality of the integument	695	BTK	ORPHA:47
HP:0001574	Abnormality of the integument	50943	FOXP3	ORPHA:37042
HP:0001574	Abnormality of the integument	50943	FOXP3	OMIM:304790
HP:0001574	Abnormality of the integument	5654	HTRA1	OMIM:600142
HP:0001574	Abnormality of the integument	60529	ALX4	ORPHA:228390
HP:0001574	Abnormality of the integument	2068	ERCC2	ORPHA:910
HP:0001574	Abnormality of the integument	7507	XPA	ORPHA:910
HP:0001574	Abnormality of the integument	1643	DDB2	ORPHA:910
HP:0001574	Abnormality of the integument	2072	ERCC4	ORPHA:910
HP:0001574	Abnormality of the integument	2073	ERCC5	ORPHA:910
HP:0001574	Abnormality of the integument	6775	STAT4	ORPHA:93552
HP:0001574	Abnormality of the integument	6696	SPP1	ORPHA:93552
HP:0001574	Abnormality of the integument	3654	IRAK1	ORPHA:93552
HP:0001574	Abnormality of the integument	8882	ZPR1	OMIM:619321
HP:0001574	Abnormality of the integument	162514	TRPV3	ORPHA:659
HP:0001574	Abnormality of the integument	114798	SLITRK1	OMIM:613229
HP:0001574	Abnormality of the integument	10651	MTX2	ORPHA:90153
HP:0001574	Abnormality of the integument	22845	DOLK	OMIM:610768
HP:0001574	Abnormality of the integument	23328	SASH1	OMIM:618373
HP:0001574	Abnormality of the integument	56244	BTNL2	ORPHA:797
HP:0001574	Abnormality of the integument	650	BMP2	OMIM:235200
HP:0001574	Abnormality of the integument	9563	H6PD	OMIM:604931
HP:0001574	Abnormality of the integument	10526	IPO8	OMIM:619472
HP:0001574	Abnormality of the integument	57514	ARHGAP31	OMIM:100300
HP:0001574	Abnormality of the integument	57514	ARHGAP31	ORPHA:974
HP:0001574	Abnormality of the integument	5580	PRKCD	OMIM:615559
HP:0001574	Abnormality of the integument	100	ADA	ORPHA:39041
HP:0001574	Abnormality of the integument	3516	RBPJ	ORPHA:974
HP:0001574	Abnormality of the integument	285203	EOGT	ORPHA:974
HP:0001574	Abnormality of the integument	54567	DLL4	ORPHA:974
HP:0001574	Abnormality of the integument	5295	PIK3R1	ORPHA:3163
HP:0001574	Abnormality of the integument	10273	STUB1	ORPHA:412057
HP:0001574	Abnormality of the integument	100151683	RNU4ATAC	ORPHA:2636
HP:0001574	Abnormality of the integument	8815	BANF1	OMIM:614008
HP:0001574	Abnormality of the integument	341208	HEPHL1	OMIM:261990
HP:0001574	Abnormality of the integument	55315	SLC29A3	ORPHA:168569
HP:0001574	Abnormality of the integument	5144	PDE4D	ORPHA:950
HP:0001574	Abnormality of the integument	23394	ADNP	ORPHA:404448
HP:0001574	Abnormality of the integument	1041	CDSN	ORPHA:90368
HP:0001574	Abnormality of the integument	1041	CDSN	OMIM:146520
HP:0001574	Abnormality of the integument	4010	LMX1B	ORPHA:2614
HP:0001574	Abnormality of the integument	2767	GNA11	ORPHA:428
HP:0001574	Abnormality of the integument	846	CASR	ORPHA:428
HP:0001574	Abnormality of the integument	1727	CYB5R3	ORPHA:621
HP:0001574	Abnormality of the integument	2517	FUCA1	ORPHA:349
HP:0001574	Abnormality of the integument	55630	SLC39A4	ORPHA:37
HP:0001574	Abnormality of the integument	3106	HLA-B	ORPHA:29207
HP:0001574	Abnormality of the integument	56916	SMARCAD1	ORPHA:384
HP:0001574	Abnormality of the integument	176	ACAN	ORPHA:171866
HP:0001574	Abnormality of the integument	9496	TBX4	OMIM:147891
HP:0001574	Abnormality of the integument	11277	TREX1	OMIM:610448
HP:0001574	Abnormality of the integument	54539	NDUFB11	ORPHA:2556
HP:0001574	Abnormality of the integument	1349	COX7B	ORPHA:2556
HP:0001574	Abnormality of the integument	3052	HCCS	ORPHA:2556
HP:0001574	Abnormality of the integument	6898	TAT	ORPHA:28378
HP:0001574	Abnormality of the integument	1513	CTSK	ORPHA:763
HP:0001574	Abnormality of the integument	7700	ZNF141	OMIM:615226
HP:0001574	Abnormality of the integument	84818	IL17RC	ORPHA:1334
HP:0001574	Abnormality of the integument	64581	CLEC7A	ORPHA:1334
HP:0001574	Abnormality of the integument	112744	IL17F	ORPHA:1334
HP:0001574	Abnormality of the integument	26154	ABCA12	ORPHA:79394
HP:0001574	Abnormality of the integument	26154	ABCA12	ORPHA:313
HP:0001574	Abnormality of the integument	348938	NIPAL4	ORPHA:79394
HP:0001574	Abnormality of the integument	348938	NIPAL4	ORPHA:313
HP:0001574	Abnormality of the integument	7051	TGM1	ORPHA:79394
HP:0001574	Abnormality of the integument	7051	TGM1	ORPHA:313
HP:0001574	Abnormality of the integument	51776	MAP3K20	ORPHA:488232
HP:0001574	Abnormality of the integument	1493	CTLA4	ORPHA:2584
HP:0001574	Abnormality of the integument	940	CD28	ORPHA:2584
HP:0001574	Abnormality of the integument	7133	TNFRSF1B	ORPHA:2584
HP:0001574	Abnormality of the integument	9333	TGM5	OMIM:609796
HP:0001574	Abnormality of the integument	151516	ASPRV1	ORPHA:313
HP:0001574	Abnormality of the integument	126410	CYP4F22	ORPHA:313
HP:0001574	Abnormality of the integument	6820	SULT2B1	ORPHA:313
HP:0001574	Abnormality of the integument	9241	NOG	ORPHA:3237
HP:0001574	Abnormality of the integument	8200	GDF5	ORPHA:3237
HP:0001574	Abnormality of the integument	2254	FGF9	ORPHA:3237
HP:0001574	Abnormality of the integument	4487	MSX1	ORPHA:2228
HP:0001574	Abnormality of the integument	3229	HOXC13	OMIM:614931
HP:0001574	Abnormality of the integument	9488	PIGB	OMIM:618580
HP:0001574	Abnormality of the integument	84529	CDIN1	OMIM:615631
HP:0001574	Abnormality of the integument	84942	WDR73	OMIM:251300
HP:0001574	Abnormality of the integument	10297	APC2	ORPHA:821
HP:0001574	Abnormality of the integument	51412	ACTL6B	OMIM:618470
HP:0001574	Abnormality of the integument	55650	PIGV	OMIM:239300
HP:0001574	Abnormality of the integument	55650	PIGV	ORPHA:247262
HP:0001574	Abnormality of the integument	7102	TSPAN7	OMIM:300210
HP:0001574	Abnormality of the integument	84992	PIGY	ORPHA:247262
HP:0001574	Abnormality of the integument	84720	PIGO	ORPHA:247262
HP:0001574	Abnormality of the integument	93210	PGAP3	ORPHA:247262
HP:0001574	Abnormality of the integument	284098	PIGW	ORPHA:247262
HP:0001574	Abnormality of the integument	27315	PGAP2	ORPHA:247262
HP:0001574	Abnormality of the integument	10940	POP1	OMIM:617396
HP:0001574	Abnormality of the integument	3549	IHH	ORPHA:63446
HP:0001574	Abnormality of the integument	5277	PIGA	OMIM:300868
HP:0001574	Abnormality of the integument	84065	TMEM222	OMIM:619470
HP:0001574	Abnormality of the integument	8493	PPM1D	OMIM:617450
HP:0001574	Abnormality of the integument	5828	PEX2	OMIM:614866
HP:0001574	Abnormality of the integument	9719	ADAMTSL2	OMIM:231050
HP:0001574	Abnormality of the integument	10195	ALG3	OMIM:601110
HP:0001574	Abnormality of the integument	8295	TRRAP	OMIM:618454
HP:0001574	Abnormality of the integument	25886	POC1A	OMIM:614813
HP:0001574	Abnormality of the integument	10075	HUWE1	OMIM:309590
HP:0001574	Abnormality of the integument	3021	H3-3B	OMIM:619721
HP:0001574	Abnormality of the integument	4998	ORC1	OMIM:224690
HP:0001574	Abnormality of the integument	1889	ECE1	OMIM:613870
HP:0001574	Abnormality of the integument	26040	SETBP1	OMIM:269150
HP:0001574	Abnormality of the integument	72	ACTG2	ORPHA:2604
HP:0001574	Abnormality of the integument	343637	RSPO4	OMIM:206800
HP:0001574	Abnormality of the integument	7476	WNT7A	OMIM:276820
HP:0001574	Abnormality of the integument	2317	FLNB	OMIM:150250
HP:0001574	Abnormality of the integument	2317	FLNB	ORPHA:503
HP:0001574	Abnormality of the integument	9894	TELO2	ORPHA:488642
HP:0001574	Abnormality of the integument	79068	FTO	OMIM:612938
HP:0001574	Abnormality of the integument	7547	ZIC3	OMIM:306955
HP:0001574	Abnormality of the integument	1376	CPT2	OMIM:608836
HP:0001574	Abnormality of the integument	26123	TCTN3	ORPHA:2753
HP:0001574	Abnormality of the integument	613	BCR	ORPHA:261330
HP:0001574	Abnormality of the integument	1399	CRKL	ORPHA:261330
HP:0001574	Abnormality of the integument	57061	HYMAI	ORPHA:96191
HP:0001574	Abnormality of the integument	5325	PLAGL1	ORPHA:96191
HP:0001574	Abnormality of the integument	80152	CENPT	OMIM:618702
HP:0001574	Abnormality of the integument	5324	PLAG1	ORPHA:397590
HP:0001574	Abnormality of the integument	1302	COL11A2	ORPHA:2021
HP:0001574	Abnormality of the integument	168667	BMPER	OMIM:608022
HP:0001574	Abnormality of the integument	818	CAMK2G	OMIM:618522
HP:0001574	Abnormality of the integument	7879	RAB7A	OMIM:600882
HP:0001574	Abnormality of the integument	1053	CEBPE	OMIM:260570
HP:0001574	Abnormality of the integument	2165	F13B	ORPHA:331
HP:0001574	Abnormality of the integument	2162	F13A1	ORPHA:331
HP:0001574	Abnormality of the integument	10559	SLC35A1	ORPHA:238459
HP:0001574	Abnormality of the integument	10559	SLC35A1	OMIM:603585
HP:0001574	Abnormality of the integument	5054	SERPINE1	ORPHA:465
HP:0001574	Abnormality of the integument	2048	EPHB2	OMIM:618462
HP:0001574	Abnormality of the integument	2157	F8	ORPHA:169805
HP:0001574	Abnormality of the integument	5155	PDGFB	ORPHA:1980
HP:0001574	Abnormality of the integument	9213	XPR1	ORPHA:1980
HP:0001574	Abnormality of the integument	57462	MYORG	ORPHA:1980
HP:0001574	Abnormality of the integument	6575	SLC20A2	ORPHA:1980
HP:0001574	Abnormality of the integument	58494	JAM2	ORPHA:1980
HP:0001574	Abnormality of the integument	5627	PROS1	ORPHA:743
HP:0001574	Abnormality of the integument	392255	GDF6	OMIM:118100
HP:0001574	Abnormality of the integument	392255	GDF6	ORPHA:2345
HP:0001574	Abnormality of the integument	79005	SCNM1	OMIM:620107
HP:0001574	Abnormality of the integument	79796	ALG9	ORPHA:79328
HP:0001574	Abnormality of the integument	8567	MADD	OMIM:619004
HP:0001574	Abnormality of the integument	4849	CNOT3	OMIM:618672
HP:0001574	Abnormality of the integument	226	ALDOA	OMIM:611881
HP:0001574	Abnormality of the integument	4222	MEOX1	OMIM:214300
HP:0001574	Abnormality of the integument	4222	MEOX1	ORPHA:2345
HP:0001574	Abnormality of the integument	738	VPS51	OMIM:618606
HP:0001574	Abnormality of the integument	84700	MYO18B	OMIM:616549
HP:0001574	Abnormality of the integument	71	ACTG1	ORPHA:2995
HP:0001574	Abnormality of the integument	26229	B3GAT3	OMIM:245600
HP:0001574	Abnormality of the integument	9181	ARHGEF2	OMIM:617523
HP:0001574	Abnormality of the integument	9573	GDF3	ORPHA:2345
HP:0001574	Abnormality of the integument	27152	INTU	OMIM:617925
HP:0001574	Abnormality of the integument	55733	HHAT	OMIM:600092
HP:0001574	Abnormality of the integument	123041	SLC24A4	OMIM:615887
HP:0001574	Abnormality of the integument	2255	FGF10	ORPHA:2363
HP:0001574	Abnormality of the integument	5264	PHYH	ORPHA:773
HP:0001574	Abnormality of the integument	652	BMP4	ORPHA:139471
HP:0001574	Abnormality of the integument	11342	RNF13	ORPHA:544503
HP:0001574	Abnormality of the integument	6448	SGSH	OMIM:252900
HP:0001574	Abnormality of the integument	285362	SUMF1	ORPHA:585
HP:0001574	Abnormality of the integument	55027	HEATR3	OMIM:620072
HP:0001574	Abnormality of the integument	84520	GON7	OMIM:619603
HP:0001574	Abnormality of the integument	2799	GNS	OMIM:252940
HP:0001574	Abnormality of the integument	6197	RPS6KA3	OMIM:303600
HP:0001574	Abnormality of the integument	10484	SEC23A	ORPHA:50814
HP:0001574	Abnormality of the integument	10484	SEC23A	OMIM:607812
HP:0001574	Abnormality of the integument	2990	GUSB	OMIM:253220
HP:0001574	Abnormality of the integument	22800	RRAS2	ORPHA:648
HP:0001574	Abnormality of the integument	6237	RRAS	ORPHA:648
HP:0001574	Abnormality of the integument	22808	MRAS	ORPHA:648
HP:0001574	Abnormality of the integument	5922	RASA2	ORPHA:648
HP:0001574	Abnormality of the integument	138050	HGSNAT	OMIM:252930
HP:0001574	Abnormality of the integument	497661	C18orf32	OMIM:619985
HP:0001574	Abnormality of the integument	8985	PLOD3	OMIM:612394
HP:0001574	Abnormality of the integument	4669	NAGLU	OMIM:252920
HP:0001574	Abnormality of the integument	875	CBS	ORPHA:394
HP:0001574	Abnormality of the integument	54084	TSPEAR	OMIM:618180
HP:0001574	Abnormality of the integument	10054	UBA2	OMIM:619959
HP:0001574	Abnormality of the integument	775	CACNA1C	OMIM:620029
HP:0001574	Abnormality of the integument	267010	RNU12	OMIM:603116
HP:0001574	Abnormality of the integument	4792	NFKBIA	OMIM:612132
HP:0001574	Abnormality of the integument	26128	KIFBP	ORPHA:66629
HP:0001574	Abnormality of the integument	81857	MED25	ORPHA:464738
HP:0001574	Abnormality of the integument	1801	DPH1	OMIM:616901
HP:0001574	Abnormality of the integument	1801	DPH1	ORPHA:459061
HP:0001574	Abnormality of the integument	7703	PCGF2	OMIM:618371
HP:0001574	Abnormality of the integument	23028	KDM1A	ORPHA:477993
HP:0001574	Abnormality of the integument	4914	NTRK1	OMIM:256800
HP:0001574	Abnormality of the integument	9419	CRIPT	OMIM:615789
HP:0001574	Abnormality of the integument	79669	C3orf52	OMIM:620177
HP:0001574	Abnormality of the integument	11285	B4GALT7	ORPHA:75496
HP:0001574	Abnormality of the integument	11285	B4GALT7	OMIM:130070
HP:0001574	Abnormality of the integument	1802	DPH2	OMIM:620062
HP:0001574	Abnormality of the integument	2131	EXT1	ORPHA:502
HP:0001574	Abnormality of the integument	4094	MAF	ORPHA:1272
HP:0001574	Abnormality of the integument	4094	MAF	OMIM:601088
HP:0001574	Abnormality of the integument	79971	WLS	OMIM:619648
HP:0001574	Abnormality of the integument	126792	B3GALT6	OMIM:271640
HP:0001574	Abnormality of the integument	1984	EIF5A	OMIM:619376
HP:0001574	Abnormality of the integument	1062	CENPE	ORPHA:808
HP:0001574	Abnormality of the integument	5932	RBBP8	ORPHA:808
HP:0001574	Abnormality of the integument	79902	NUP85	ORPHA:808
HP:0001574	Abnormality of the integument	84126	ATRIP	ORPHA:808
HP:0001574	Abnormality of the integument	55835	CENPJ	ORPHA:808
HP:0001574	Abnormality of the integument	10293	TRAIP	ORPHA:808
HP:0001574	Abnormality of the integument	22995	CEP152	ORPHA:808
HP:0001574	Abnormality of the integument	404672	GTF2H5	ORPHA:33364
HP:0001574	Abnormality of the integument	6897	TARS1	ORPHA:33364
HP:0001574	Abnormality of the integument	5587	PRKD1	OMIM:617364
HP:0001574	Abnormality of the integument	25871	NEPRO	OMIM:618853
HP:0001574	Abnormality of the integument	64858	DCLRE1B	OMIM:620133
HP:0001574	Abnormality of the integument	3480	IGF1R	OMIM:270450
HP:0001574	Abnormality of the integument	8036	SHOC2	OMIM:607721
HP:0001574	Abnormality of the integument	56896	DPYSL5	OMIM:619435
HP:0001574	Abnormality of the integument	8216	LZTR1	OMIM:616564
HP:0001574	Abnormality of the integument	8216	LZTR1	OMIM:605275
HP:0001574	Abnormality of the integument	27125	AFF4	OMIM:616368
HP:0001574	Abnormality of the integument	27125	AFF4	ORPHA:444077
HP:0001574	Abnormality of the integument	6016	RIT1	OMIM:615355
HP:0001574	Abnormality of the integument	8239	USP9X	ORPHA:480880
HP:0001574	Abnormality of the integument	5894	RAF1	OMIM:611554
HP:0001574	Abnormality of the integument	5894	RAF1	OMIM:611553
HP:0001574	Abnormality of the integument	10430	TMEM147	OMIM:620075
HP:0001574	Abnormality of the integument	10087	CERT1	OMIM:616351
HP:0001574	Abnormality of the integument	3188	HNRNPH2	OMIM:300986
HP:0001574	Abnormality of the integument	2783	GNB2	OMIM:619503
HP:0001574	Abnormality of the integument	200734	SPRED2	OMIM:619745
HP:0001574	Abnormality of the integument	6655	SOS2	OMIM:616559
HP:0001574	Abnormality of the integument	6654	SOS1	OMIM:610733
HP:0001574	Abnormality of the integument	2972	BRF1	OMIM:616202
HP:0001574	Abnormality of the integument	2972	BRF1	ORPHA:444072
HP:0001574	Abnormality of the integument	23314	SATB2	ORPHA:251028
HP:0001574	Abnormality of the integument	23314	SATB2	ORPHA:251019
HP:0001574	Abnormality of the integument	5831	PYCR1	OMIM:614438
HP:0001574	Abnormality of the integument	4952	OCRL	ORPHA:534
HP:0001574	Abnormality of the integument	79158	GNPTAB	ORPHA:576
HP:0001574	Abnormality of the integument	51132	RLIM	OMIM:300978
HP:0001574	Abnormality of the integument	6821	SUOX	OMIM:272300
HP:0001574	Abnormality of the integument	9056	SLC7A7	OMIM:222700
HP:0001574	Abnormality of the integument	833	CARS1	OMIM:618891
HP:0001574	Abnormality of the integument	25942	SIN3A	OMIM:613406
HP:0001574	Abnormality of the integument	25942	SIN3A	ORPHA:500166
HP:0001574	Abnormality of the integument	10522	DEAF1	OMIM:615828
HP:0001574	Abnormality of the integument	9487	PIGL	ORPHA:3474
HP:0001574	Abnormality of the integument	9487	PIGL	OMIM:280000
HP:0001574	Abnormality of the integument	3675	ITGA3	OMIM:614748
HP:0001574	Abnormality of the integument	57459	GATAD2B	ORPHA:363686
HP:0001574	Abnormality of the integument	4089	SMAD4	OMIM:139210
HP:0001574	Abnormality of the integument	23522	KAT6B	ORPHA:85201
HP:0001574	Abnormality of the integument	54676	GTPBP2	OMIM:617988
HP:0001574	Abnormality of the integument	50485	SMARCAL1	OMIM:242900
HP:0001574	Abnormality of the integument	5116	PCNT	ORPHA:2637
HP:0001574	Abnormality of the integument	51594	NBAS	OMIM:614800
HP:0001574	Abnormality of the integument	2146	EZH2	OMIM:277590
HP:0001574	Abnormality of the integument	2146	EZH2	ORPHA:3447
HP:0001574	Abnormality of the integument	3242	HPD	ORPHA:2118
HP:0001574	Abnormality of the integument	64324	NSD1	ORPHA:3447
HP:0001574	Abnormality of the integument	8726	EED	ORPHA:3447
HP:0001574	Abnormality of the integument	23512	SUZ12	ORPHA:3447
HP:0001574	Abnormality of the integument	57539	WDR35	OMIM:614091
HP:0001574	Abnormality of the integument	23309	SIN3B	ORPHA:500166
HP:0001574	Abnormality of the integument	112752	IFT43	OMIM:614099
HP:0001574	Abnormality of the integument	867	CBL	OMIM:613563
HP:0001574	Abnormality of the integument	81603	TRIM8	OMIM:619428
HP:0001574	Abnormality of the integument	147495	APCDD1	OMIM:605389
HP:0001574	Abnormality of the integument	9508	ADAMTS3	ORPHA:2136
HP:0001574	Abnormality of the integument	147372	CCBE1	ORPHA:2136
HP:0001574	Abnormality of the integument	79633	FAT4	ORPHA:2136
HP:0001574	Abnormality of the integument	3122	HLA-DRA	ORPHA:505
HP:0001574	Abnormality of the integument	284252	KCTD1	OMIM:181270
HP:0001574	Abnormality of the integument	2488	FSHB	ORPHA:52901
HP:0001574	Abnormality of the integument	3972	LHB	OMIM:228300
HP:0001574	Abnormality of the integument	1528	CYB5A	ORPHA:90796
HP:0001574	Abnormality of the integument	9723	SEMA3E	OMIM:146110
HP:0001574	Abnormality of the integument	558	AXL	OMIM:146110
HP:0001574	Abnormality of the integument	2798	GNRHR	OMIM:146110
HP:0001574	Abnormality of the integument	2796	GNRH1	OMIM:146110
HP:0001574	Abnormality of the integument	10011	SRA1	OMIM:146110
HP:0001574	Abnormality of the integument	55717	WDR11	OMIM:146110
HP:0001574	Abnormality of the integument	8822	FGF17	OMIM:146110
HP:0001574	Abnormality of the integument	1848	DUSP6	OMIM:146110
HP:0001574	Abnormality of the integument	81848	SPRY4	OMIM:146110
HP:0001574	Abnormality of the integument	285025	CCDC141	OMIM:146110
HP:0001574	Abnormality of the integument	389549	FEZF1	OMIM:146110
HP:0001574	Abnormality of the integument	1825	DSC3	OMIM:613102
HP:0001574	Abnormality of the integument	4214	MAP3K1	OMIM:613762
HP:0001574	Abnormality of the integument	4214	MAP3K1	ORPHA:251510
HP:0001574	Abnormality of the integument	6662	SOX9	ORPHA:251510
HP:0001574	Abnormality of the integument	6845	VAMP7	ORPHA:251510
HP:0001574	Abnormality of the integument	51741	WWOX	ORPHA:251510
HP:0001574	Abnormality of the integument	2516	NR5A1	ORPHA:251510
HP:0001574	Abnormality of the integument	7490	WT1	ORPHA:251510
HP:0001574	Abnormality of the integument	58524	DMRT3	ORPHA:251510
HP:0001574	Abnormality of the integument	57647	DHX37	ORPHA:251510
HP:0001574	Abnormality of the integument	6736	SRY	ORPHA:251510
HP:0001574	Abnormality of the integument	23414	ZFPM2	ORPHA:251510
HP:0001574	Abnormality of the integument	190	NR0B1	ORPHA:251510
HP:0001574	Abnormality of the integument	2626	GATA4	ORPHA:251510
HP:0001574	Abnormality of the integument	23594	ORC6	OMIM:613803
HP:0001574	Abnormality of the integument	83932	SPRTN	OMIM:616200
HP:0001574	Abnormality of the integument	7015	TERT	OMIM:614742
HP:0001574	Abnormality of the integument	7015	TERT	OMIM:127550
HP:0001574	Abnormality of the integument	7015	TERT	OMIM:613989
HP:0001574	Abnormality of the integument	7015	TERT	ORPHA:3322
HP:0001574	Abnormality of the integument	7015	TERT	ORPHA:1775
HP:0001574	Abnormality of the integument	1161	ERCC8	ORPHA:90324
HP:0001574	Abnormality of the integument	7012	TERC	OMIM:614743
HP:0001574	Abnormality of the integument	7012	TERC	OMIM:127550
HP:0001574	Abnormality of the integument	7012	TERC	ORPHA:1775
HP:0001574	Abnormality of the integument	1736	DKC1	OMIM:305000
HP:0001574	Abnormality of the integument	1736	DKC1	ORPHA:3322
HP:0001574	Abnormality of the integument	1736	DKC1	ORPHA:1775
HP:0001574	Abnormality of the integument	472	ATM	ORPHA:100
HP:0001574	Abnormality of the integument	79991	STN1	OMIM:617341
HP:0001574	Abnormality of the integument	374879	ZNF699	OMIM:619488
HP:0001574	Abnormality of the integument	5073	PARN	OMIM:616371
HP:0001574	Abnormality of the integument	5073	PARN	ORPHA:3322
HP:0001574	Abnormality of the integument	5073	PARN	ORPHA:1775
HP:0001574	Abnormality of the integument	6663	SOX10	OMIM:613266
HP:0001574	Abnormality of the integument	6663	SOX10	ORPHA:897
HP:0001574	Abnormality of the integument	6663	SOX10	ORPHA:895
HP:0001574	Abnormality of the integument	6663	SOX10	ORPHA:163746
HP:0001574	Abnormality of the integument	6663	SOX10	OMIM:611584
HP:0001574	Abnormality of the integument	1908	EDN3	OMIM:613265
HP:0001574	Abnormality of the integument	1908	EDN3	ORPHA:897
HP:0001574	Abnormality of the integument	6117	RPA1	OMIM:619767
HP:0001574	Abnormality of the integument	1910	EDNRB	OMIM:277580
HP:0001574	Abnormality of the integument	1910	EDNRB	ORPHA:897
HP:0001574	Abnormality of the integument	1910	EDNRB	ORPHA:895
HP:0001574	Abnormality of the integument	26277	TINF2	OMIM:127550
HP:0001574	Abnormality of the integument	26277	TINF2	OMIM:613990
HP:0001574	Abnormality of the integument	26277	TINF2	ORPHA:3322
HP:0001574	Abnormality of the integument	26277	TINF2	ORPHA:1775
HP:0001574	Abnormality of the integument	51085	MLXIPL	OMIM:194050
HP:0001574	Abnormality of the integument	7299	TYR	ORPHA:895
HP:0001574	Abnormality of the integument	6591	SNAI2	ORPHA:895
HP:0001574	Abnormality of the integument	4254	KITLG	ORPHA:895
HP:0001574	Abnormality of the integument	4254	KITLG	OMIM:619947
HP:0001574	Abnormality of the integument	5077	PAX3	ORPHA:894
HP:0001574	Abnormality of the integument	5077	PAX3	OMIM:193500
HP:0001574	Abnormality of the integument	5077	PAX3	OMIM:148820
HP:0001574	Abnormality of the integument	4193	MDM2	OMIM:618681
HP:0001574	Abnormality of the integument	79184	BRCC3	ORPHA:280679
HP:0001574	Abnormality of the integument	51750	RTEL1	ORPHA:3322
HP:0001574	Abnormality of the integument	51750	RTEL1	ORPHA:1775
HP:0001574	Abnormality of the integument	65057	ACD	ORPHA:3322
HP:0001574	Abnormality of the integument	7020	TFAP2A	OMIM:113620
HP:0001574	Abnormality of the integument	7020	TFAP2A	ORPHA:1297
HP:0001574	Abnormality of the integument	4507	MTAP	OMIM:112250
HP:0001574	Abnormality of the integument	80169	CTC1	OMIM:612199
HP:0001574	Abnormality of the integument	80169	CTC1	ORPHA:1775
HP:0001574	Abnormality of the integument	55651	NHP2	ORPHA:1775
HP:0001574	Abnormality of the integument	79650	USB1	ORPHA:1775
HP:0001574	Abnormality of the integument	55135	WRAP53	ORPHA:1775
HP:0001574	Abnormality of the integument	4869	NPM1	ORPHA:1775
HP:0001574	Abnormality of the integument	55505	NOP10	ORPHA:1775
HP:0001574	Abnormality of the integument	7298	TYMS	ORPHA:1775
HP:0001574	Abnormality of the integument	355	FAS	ORPHA:3437
HP:0001574	Abnormality of the integument	26191	PTPN22	ORPHA:3437
HP:0001574	Abnormality of the integument	8884	SLC5A6	OMIM:619903
HP:0001574	Abnormality of the integument	5696	PSMB8	OMIM:256040
HP:0001574	Abnormality of the integument	10913	EDAR	OMIM:129490
HP:0001574	Abnormality of the integument	147409	DSG4	ORPHA:573
HP:0001574	Abnormality of the integument	3892	KRT86	ORPHA:573
HP:0001574	Abnormality of the integument	3889	KRT83	ORPHA:573
HP:0001574	Abnormality of the integument	3887	KRT81	ORPHA:573
HP:0001574	Abnormality of the integument	7737	RNF113A	OMIM:300953
HP:0001574	Abnormality of the integument	8626	TP63	ORPHA:1896
HP:0001574	Abnormality of the integument	8626	TP63	OMIM:129400
HP:0001574	Abnormality of the integument	7227	TRPS1	OMIM:190350
HP:0001574	Abnormality of the integument	5500	PPP1CB	OMIM:617506
HP:0001574	Abnormality of the integument	1474	CST6	OMIM:618535
HP:0001574	Abnormality of the integument	7025	NR2F1	OMIM:615722
HP:0001574	Abnormality of the integument	2961	GTF2E2	OMIM:616943
HP:0001574	Abnormality of the integument	55764	IFT122	OMIM:218330
HP:0001574	Abnormality of the integument	25778	DSTYK	ORPHA:101003
HP:0001574	Abnormality of the integument	1130	LYST	OMIM:214500
HP:0001574	Abnormality of the integument	79083	MLPH	OMIM:609227
HP:0001574	Abnormality of the integument	388552	BLOC1S3	OMIM:614077
HP:0001574	Abnormality of the integument	57492	ARID1B	OMIM:135900
HP:0001574	Abnormality of the integument	22930	RAB3GAP1	OMIM:600118
HP:0001574	Abnormality of the integument	145173	B3GLCT	OMIM:261540
HP:0001574	Abnormality of the integument	3643	INSR	ORPHA:508
HP:0001574	Abnormality of the integument	7389	UROD	OMIM:176100
HP:0001574	Abnormality of the integument	7389	UROD	ORPHA:95159
HP:0001574	Abnormality of the integument	3077	HFE	OMIM:176100
HP:0001574	Abnormality of the integument	3782	KCNN3	OMIM:618658
HP:0001574	Abnormality of the integument	3782	KCNN3	ORPHA:3473
HP:0001574	Abnormality of the integument	526	ATP6V1B2	ORPHA:3473
HP:0001574	Abnormality of the integument	3756	KCNH1	ORPHA:3473
HP:0001574	Abnormality of the integument	57231	SNX14	ORPHA:397709
HP:0001574	Abnormality of the integument	5873	RAB27A	OMIM:607624
HP:0001574	Abnormality of the integument	4644	MYO5A	OMIM:214450
HP:0001574	Abnormality of the integument	26137	ZBTB20	OMIM:259050
HP:0001574	Abnormality of the integument	4047	LSS	OMIM:618275
HP:0001574	Abnormality of the integument	348	APOE	OMIM:269600
HP:0001574	Abnormality of the integument	6635	SNRPE	OMIM:615059
HP:0001574	Abnormality of the integument	79574	EPS8L3	OMIM:612841
HP:0001574	Abnormality of the integument	2706	GJB2	OMIM:148210
HP:0001574	Abnormality of the integument	367	AR	ORPHA:99429
HP:0001574	Abnormality of the integument	1586	CYP17A1	ORPHA:90793
HP:0001574	Abnormality of the integument	6926	TBX3	ORPHA:3138
HP:0001574	Abnormality of the integument	54345	SOX18	OMIM:137940
HP:0001574	Abnormality of the integument	54345	SOX18	ORPHA:69735
HP:0001574	Abnormality of the integument	54345	SOX18	OMIM:607823
HP:0001574	Abnormality of the integument	5317	PKP1	OMIM:604536
HP:0001574	Abnormality of the integument	4953	ODC1	OMIM:619075
HP:0001574	Abnormality of the integument	4953	ODC1	ORPHA:544488
HP:0001574	Abnormality of the integument	8313	AXIN2	OMIM:608615
HP:0001574	Abnormality of the integument	1832	DSP	ORPHA:158687
HP:0001574	Abnormality of the integument	3728	JUP	ORPHA:158687
HP:0001574	Abnormality of the integument	3845	KRAS	OMIM:615278
HP:0001574	Abnormality of the integument	8092	ALX1	OMIM:613456
HP:0001574	Abnormality of the integument	128178	EDARADD	OMIM:614941
HP:0001574	Abnormality of the integument	64682	ANAPC1	OMIM:618625
HP:0001574	Abnormality of the integument	11128	POLR3A	OMIM:264090
HP:0001574	Abnormality of the integument	80144	FRAS1	OMIM:219000
HP:0001574	Abnormality of the integument	3891	KRT85	OMIM:602032
HP:0001574	Abnormality of the integument	55806	HR	ORPHA:701
HP:0001574	Abnormality of the integument	55806	HR	OMIM:203655
HP:0001574	Abnormality of the integument	10283	CWC27	ORPHA:166035
HP:0001574	Abnormality of the integument	9401	RECQL4	OMIM:268400
HP:0001574	Abnormality of the integument	10804	GJB6	ORPHA:189
HP:0001574	Abnormality of the integument	4000	LMNA	ORPHA:740
HP:0001574	Abnormality of the integument	4000	LMNA	ORPHA:363618
HP:0001574	Abnormality of the integument	51360	MBTPS2	OMIM:308205
HP:0001574	Abnormality of the integument	51360	MBTPS2	ORPHA:2273
HP:0001574	Abnormality of the integument	5605	MAP2K2	OMIM:615280
HP:0001574	Abnormality of the integument	117581	TWIST2	OMIM:200110
HP:0001574	Abnormality of the integument	117581	TWIST2	ORPHA:920
HP:0001574	Abnormality of the integument	84946	LTV1	OMIM:620199
HP:0001574	Abnormality of the integument	1896	EDA	OMIM:305100
HP:0001574	Abnormality of the integument	7390	UROS	OMIM:263700
HP:0001574	Abnormality of the integument	5297	PI4KA	ORPHA:436252
HP:0001574	Abnormality of the integument	57217	TTC7A	ORPHA:436252
HP:0001574	Abnormality of the integument	6595	SMARCA2	OMIM:601358
HP:0001574	Abnormality of the integument	54101	RIPK4	OMIM:263650
HP:0001574	Abnormality of the integument	89910	UBE3B	ORPHA:2707
HP:0001574	Abnormality of the integument	1001	CDH3	ORPHA:1897
HP:0001574	Abnormality of the integument	16	AARS1	OMIM:619691
HP:0001574	Abnormality of the integument	200879	LIPH	OMIM:604379
HP:0001574	Abnormality of the integument	200879	LIPH	ORPHA:170
HP:0001574	Abnormality of the integument	112802	KRT71	ORPHA:170
HP:0001574	Abnormality of the integument	112802	KRT71	OMIM:615896
HP:0001574	Abnormality of the integument	121391	KRT74	ORPHA:170
HP:0001574	Abnormality of the integument	121391	KRT74	OMIM:194300
HP:0001574	Abnormality of the integument	10161	LPAR6	ORPHA:170
HP:0001574	Abnormality of the integument	10161	LPAR6	OMIM:278150
HP:0001574	Abnormality of the integument	147183	KRT25	ORPHA:170
HP:0001574	Abnormality of the integument	57003	CCDC47	OMIM:618268
HP:0001574	Abnormality of the integument	9652	SKIC3	OMIM:222470
HP:0001574	Abnormality of the integument	9652	SKIC3	ORPHA:84064
HP:0001574	Abnormality of the integument	1947	EFNB1	ORPHA:1520
HP:0001574	Abnormality of the integument	6499	SKIC2	OMIM:614602
HP:0001574	Abnormality of the integument	6499	SKIC2	ORPHA:84064
HP:0001574	Abnormality of the integument	8139	GAN	ORPHA:643
HP:0001574	Abnormality of the integument	538	ATP7A	ORPHA:565
HP:0001574	Abnormality of the integument	136647	MPLKIP	OMIM:234050
HP:0001574	Abnormality of the integument	7286	TUFT1	OMIM:607655
HP:0001574	Abnormality of the integument	1829	DSG2	OMIM:610193
HP:0001574	Abnormality of the integument	91875	TTC5	OMIM:619244
HP:0001574	Abnormality of the integument	25959	KANK2	OMIM:616099
HP:0001574	Abnormality of the integument	64065	PERP	OMIM:619209
HP:0001574	Abnormality of the integument	64065	PERP	OMIM:619208
HP:0001574	Abnormality of the integument	51702	PADI3	ORPHA:1410
HP:0001574	Abnormality of the integument	7053	TGM3	ORPHA:1410
HP:0001574	Abnormality of the integument	1824	DSC2	OMIM:610476
HP:0001574	Abnormality of the integument	5604	MAP2K1	OMIM:163950
HP:0001574	Abnormality of the integument	5781	PTPN11	OMIM:163950
HP:0001574	Abnormality of the integument	668	FOXL2	OMIM:110100
HP:0001574	Abnormality of the integument	29893	PSMC3IP	ORPHA:243
HP:0001574	Abnormality of the integument	171568	POLR3H	ORPHA:243
HP:0001574	Abnormality of the integument	125150	ZSWIM7	ORPHA:243
HP:0001574	Abnormality of the integument	9210	BMP15	ORPHA:243
HP:0001574	Abnormality of the integument	57122	NUP107	ORPHA:243
HP:0001574	Abnormality of the integument	23514	SPIDR	ORPHA:243
HP:0001574	Abnormality of the integument	2492	FSHR	ORPHA:243
HP:0001574	Abnormality of the integument	646	BNC1	ORPHA:243
HP:0001574	Abnormality of the integument	3730	ANOS1	OMIM:308700
HP:0001574	Abnormality of the integument	7306	TYRP1	ORPHA:79433
HP:0001574	Abnormality of the integument	3815	KIT	ORPHA:2884
HP:0001574	Abnormality of the integument	23476	BRD4	ORPHA:199
HP:0001574	Abnormality of the integument	9126	SMC3	ORPHA:199
HP:0001574	Abnormality of the integument	8243	SMC1A	ORPHA:199
HP:0001574	Abnormality of the integument	25836	NIPBL	ORPHA:199
HP:0001574	Abnormality of the integument	55869	HDAC8	ORPHA:199
HP:0001574	Abnormality of the integument	5885	RAD21	ORPHA:199
HP:0001574	Abnormality of the integument	92482	BBIP1	ORPHA:110
HP:0001574	Abnormality of the integument	80184	CEP290	ORPHA:110
HP:0001574	Abnormality of the integument	11020	IFT27	ORPHA:110
HP:0001574	Abnormality of the integument	582	BBS1	ORPHA:110
HP:0001574	Abnormality of the integument	49855	SCAPER	ORPHA:110
HP:0001574	Abnormality of the integument	4867	NPHP1	ORPHA:110
HP:0001574	Abnormality of the integument	51057	WDPCP	ORPHA:110
HP:0001574	Abnormality of the integument	27241	BBS9	ORPHA:110
HP:0001574	Abnormality of the integument	84984	CEP19	ORPHA:110
HP:0001574	Abnormality of the integument	22954	TRIM32	ORPHA:110
HP:0001574	Abnormality of the integument	54903	MKS1	ORPHA:110
HP:0001574	Abnormality of the integument	79738	BBS10	ORPHA:110
HP:0001574	Abnormality of the integument	123016	TTC8	ORPHA:110
HP:0001574	Abnormality of the integument	26160	IFT172	ORPHA:110
HP:0001574	Abnormality of the integument	583	BBS2	ORPHA:110
HP:0001574	Abnormality of the integument	585	BBS4	ORPHA:110
HP:0001574	Abnormality of the integument	8195	MKKS	ORPHA:110
HP:0001574	Abnormality of the integument	54585	LZTFL1	ORPHA:110
HP:0001574	Abnormality of the integument	55212	BBS7	ORPHA:110
HP:0001574	Abnormality of the integument	166379	BBS12	ORPHA:110
HP:0001574	Abnormality of the integument	10806	SDCCAG8	ORPHA:110
HP:0001574	Abnormality of the integument	157657	CFAP418	ORPHA:110
HP:0001574	Abnormality of the integument	84100	ARL6	ORPHA:110
HP:0001574	Abnormality of the integument	129880	BBS5	ORPHA:110
HP:0001574	Abnormality of the integument	80173	IFT74	ORPHA:110
HP:0001574	Abnormality of the integument	29957	SLC25A24	ORPHA:2095
HP:0001574	Abnormality of the integument	29957	SLC25A24	ORPHA:2963
HP:0001574	Abnormality of the integument	5593	PRKG2	OMIM:619636
HP:0001574	Abnormality of the integument	55777	MBD5	ORPHA:228402
HP:0001574	Abnormality of the integument	5590	PRKCZ	ORPHA:1606
HP:0001574	Abnormality of the integument	2563	GABRD	ORPHA:1606
HP:0001574	Abnormality of the integument	23013	SPEN	ORPHA:1606
HP:0001574	Abnormality of the integument	8510	MMP23B	ORPHA:1606
HP:0001574	Abnormality of the integument	7798	LUZP1	ORPHA:1606
HP:0001574	Abnormality of the integument	6497	SKI	ORPHA:1606
HP:0001574	Abnormality of the integument	10630	PDPN	ORPHA:1606
HP:0001574	Abnormality of the integument	3339	HSPG2	ORPHA:1606
HP:0001574	Abnormality of the integument	3339	HSPG2	OMIM:255800
HP:0001574	Abnormality of the integument	3339	HSPG2	ORPHA:800
HP:0001574	Abnormality of the integument	10277	UBE4B	ORPHA:1606
HP:0001574	Abnormality of the integument	8514	KCNAB2	ORPHA:1606
HP:0001574	Abnormality of the integument	473	RERE	ORPHA:1606
HP:0001574	Abnormality of the integument	63976	PRDM16	ORPHA:1606
HP:0001574	Abnormality of the integument	54897	CASZ1	ORPHA:1606
HP:0001574	Abnormality of the integument	3425	IDUA	ORPHA:93473
HP:0001574	Abnormality of the integument	3425	IDUA	ORPHA:93476
HP:0001574	Abnormality of the integument	5184	PEPD	ORPHA:742
HP:0001574	Abnormality of the integument	5728	PTEN	ORPHA:744
HP:0001574	Abnormality of the integument	207	AKT1	ORPHA:744
HP:0001574	Abnormality of the integument	26580	BSCL2	ORPHA:363400
HP:0001574	Abnormality of the integument	5594	MAPK1	OMIM:619087
HP:0001574	Abnormality of the integument	63916	ELMO2	ORPHA:3019
HP:0001574	Abnormality of the integument	6608	SMO	ORPHA:1553
HP:0001574	Abnormality of the integument	7291	TWIST1	OMIM:617746
HP:0001574	Abnormality of the integument	3764	KCNJ8	ORPHA:1517
HP:0001574	Abnormality of the integument	10060	ABCC9	ORPHA:1517
HP:0001574	Abnormality of the integument	10020	GNE	OMIM:269921
HP:0001574	Abnormality of the integument	3664	IRF6	ORPHA:1300
HP:0001574	Abnormality of the integument	5468	PPARG	ORPHA:79083
HP:0001574	Abnormality of the integument	84823	LMNB2	ORPHA:79087
HP:0001574	Abnormality of the integument	83550	GPR101	ORPHA:963
HP:0001574	Abnormality of the integument	9049	AIP	ORPHA:963
HP:0001574	Abnormality of the integument	25782	RAB3GAP2	ORPHA:2510
HP:0001574	Abnormality of the integument	22931	RAB18	ORPHA:2510
HP:0001574	Abnormality of the integument	128637	TBC1D20	ORPHA:2510
HP:0001574	Abnormality of the integument	8604	SLC25A12	OMIM:612949
HP:0001574	Abnormality of the integument	4784	NFIX	ORPHA:561
HP:0001574	Abnormality of the integument	23461	ABCA5	ORPHA:2026
HP:0001574	Abnormality of the integument	203068	TUBB	ORPHA:2505
HP:0001574	Abnormality of the integument	10982	MAPRE2	ORPHA:2505
HP:0001574	Abnormality of the integument	649	BMP1	OMIM:614856
HP:0001574	Abnormality of the integument	7319	UBE2A	ORPHA:163956
HP:0001574	Abnormality of the integument	170302	ARX	ORPHA:2508
HP:0001574	Abnormality of the integument	2531	KDSR	ORPHA:317
HP:0001574	Abnormality of the integument	127534	GJB4	ORPHA:317
HP:0001574	Abnormality of the integument	4853	NOTCH2	ORPHA:955
HP:0001574	Abnormality of the integument	8803	SUCLA2	ORPHA:1933
HP:0001574	Abnormality of the integument	1588	CYP19A1	ORPHA:91
HP:0001574	Abnormality of the integument	1075	CTSC	ORPHA:678
HP:0001574	Abnormality of the integument	2260	FGFR1	ORPHA:432
HP:0001574	Abnormality of the integument	128674	PROKR2	ORPHA:432
HP:0001574	Abnormality of the integument	2253	FGF8	ORPHA:432
HP:0001574	Abnormality of the integument	60675	PROK2	ORPHA:432
HP:0001574	Abnormality of the integument	55636	CHD7	ORPHA:432
HP:0001574	Abnormality of the integument	6870	TACR3	ORPHA:432
HP:0001574	Abnormality of the integument	26012	NSMF	ORPHA:432
HP:0001574	Abnormality of the integument	9394	HS6ST1	ORPHA:432
HP:0001574	Abnormality of the integument	84634	KISS1R	ORPHA:432
HP:0001574	Abnormality of the integument	6866	TAC3	ORPHA:432
HP:0001574	Abnormality of the integument	3814	KISS1	ORPHA:432
HP:0001574	Abnormality of the integument	54800	KLHL24	OMIM:617294
HP:0001574	Abnormality of the integument	197	AHSG	ORPHA:2850
HP:0001574	Abnormality of the integument	3694	ITGB6	ORPHA:2850
HP:0001574	Abnormality of the integument	60401	EDA2R	ORPHA:181
HP:0001574	Abnormality of the integument	9076	CLDN1	ORPHA:59303
HP:0001574	Abnormality of the integument	2332	FMR1	ORPHA:261483
HP:0001574	Abnormality of the integument	6768	ST14	OMIM:602400
HP:0001574	Abnormality of the integument	120766137	HRURF	OMIM:146550
HP:0001574	Abnormality of the integument	7189	TRAF6	ORPHA:1810
HP:0001574	Abnormality of the integument	126695	KDF1	ORPHA:1810
HP:0001574	Abnormality of the integument	64840	PORCN	OMIM:305600
HP:0001574	Abnormality of the integument	8242	KDM5C	OMIM:300534
HP:0001574	Abnormality of the integument	8242	KDM5C	ORPHA:85279
HP:0001574	Abnormality of the integument	81607	NECTIN4	OMIM:613573
HP:0001574	Abnormality of the integument	641	BLM	ORPHA:125
HP:0001574	Abnormality of the integument	1893	ECM1	OMIM:247100
HP:0001574	Abnormality of the integument	23404	EXOSC2	OMIM:617763
HP:0001574	Abnormality of the integument	28755	TRAC	OMIM:615387
HP:0001574	Abnormality of the integument	3559	IL2RA	OMIM:606367
HP:0001574	Abnormality of the integument	84168	ANTXR1	ORPHA:2067
HP:0001574	Abnormality of the integument	324	APC	ORPHA:261584
HP:0001574	Abnormality of the integument	7062	TCHH	OMIM:617252
HP:0001574	Abnormality of the integument	7528	YY1	ORPHA:506358
HP:0001574	Abnormality of the integument	7528	YY1	OMIM:617557
HP:0001574	Abnormality of the integument	5422	POLA1	OMIM:301220
HP:0001574	Abnormality of the integument	9759	HDAC4	OMIM:619797
HP:0001574	Abnormality of the integument	8473	OGT	OMIM:300997
HP:0001574	Abnormality of the integument	1387	CREBBP	OMIM:180849
HP:0001574	Abnormality of the integument	2033	EP300	OMIM:180849
HP:0001574	Abnormality of the integument	815	CAMK2A	OMIM:617798
HP:0001574	Abnormality of the integument	9968	MED12	ORPHA:93932
HP:0001574	Abnormality of the integument	9968	MED12	OMIM:305450
HP:0001574	Abnormality of the integument	23389	MED13L	ORPHA:369891
HP:0001574	Abnormality of the integument	7681	MKRN3	OMIM:176270
HP:0001574	Abnormality of the integument	3653	IPW	OMIM:176270
HP:0001574	Abnormality of the integument	54551	MAGEL2	OMIM:176270
HP:0001574	Abnormality of the integument	791114	PWRN1	OMIM:176270
HP:0001574	Abnormality of the integument	100033413	SNORD116-1	OMIM:176270
HP:0001574	Abnormality of the integument	8924	HERC2	OMIM:176270
HP:0001574	Abnormality of the integument	145624	PWAR1	OMIM:176270
HP:0001574	Abnormality of the integument	23742	NPAP1	OMIM:176270
HP:0001574	Abnormality of the integument	338433	SNORD115-1	OMIM:176270
HP:0001574	Abnormality of the integument	2316	FLNA	OMIM:300321
HP:0001574	Abnormality of the integument	7204	TRIO	OMIM:617061
HP:0001574	Abnormality of the integument	197131	UBR1	OMIM:243800
HP:0001574	Abnormality of the integument	9742	IFT140	OMIM:266920
HP:0001574	Abnormality of the integument	27086	FOXP1	ORPHA:391372
HP:0001574	Abnormality of the integument	9758	FRMPD4	OMIM:300983
HP:0001574	Abnormality of the integument	9442	MED27	OMIM:619286
HP:0001574	Abnormality of the integument	55012	PPP2R3C	OMIM:618419
HP:0001574	Abnormality of the integument	23261	CAMTA1	OMIM:614756
HP:0001574	Abnormality of the integument	6925	TCF4	OMIM:610954
HP:0001574	Abnormality of the integument	63915	BLOC1S5	OMIM:619172
HP:0001574	Abnormality of the integument	26503	SLC17A5	OMIM:269920
HP:0001574	Abnormality of the integument	6901	TAFAZZIN	OMIM:302060
HP:0001574	Abnormality of the integument	20	ABCA2	OMIM:618808
HP:0001574	Abnormality of the integument	2703	GJA8	OMIM:612474
HP:0001574	Abnormality of the integument	7555	CNBP	OMIM:602668
HP:0001574	Abnormality of the integument	1760	DMPK	OMIM:160900
HP:0001574	Abnormality of the integument	6513	SLC2A1	ORPHA:1942
HP:0001574	Abnormality of the integument	8831	SYNGAP1	ORPHA:1942
HP:0001574	Abnormality of the integument	1173	AP2M1	ORPHA:1942
HP:0001574	Abnormality of the integument	6323	SCN1A	ORPHA:1942
HP:0001574	Abnormality of the integument	340533	NEXMIF	ORPHA:1942
HP:0001574	Abnormality of the integument	1106	CHD2	ORPHA:1942
HP:0001574	Abnormality of the integument	6529	SLC6A1	ORPHA:1942
HP:0001574	Abnormality of the integument	5122	PCSK1	ORPHA:71528
HP:0001574	Abnormality of the integument	5443	POMC	OMIM:609734
HP:0001574	Abnormality of the integument	5443	POMC	ORPHA:71526
HP:0001574	Abnormality of the integument	51095	TRNT1	OMIM:616084
HP:0001574	Abnormality of the integument	6228	RPS23	OMIM:617412
HP:0001574	Abnormality of the integument	435	ASL	OMIM:207900
HP:0001574	Abnormality of the integument	222663	SCUBE3	OMIM:619184
HP:0001574	Abnormality of the integument	55210	ATAD3A	OMIM:618810
HP:0001574	Abnormality of the integument	50651	SLC45A1	OMIM:617532
HP:0001574	Abnormality of the integument	23334	SZT2	OMIM:615476
HP:0001574	Abnormality of the integument	7021	TFAP2B	OMIM:169100
HP:0001574	Abnormality of the integument	23322	RPGRIP1L	ORPHA:220497
HP:0001574	Abnormality of the integument	23322	RPGRIP1L	ORPHA:1454
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:220497
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:475
HP:0001574	Abnormality of the integument	65062	TMEM237	OMIM:614424
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:2318
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:220493
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:475
HP:0001574	Abnormality of the integument	56623	INPP5E	OMIM:213300
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:1454
HP:0001574	Abnormality of the integument	95681	CEP41	ORPHA:220493
HP:0001574	Abnormality of the integument	95681	CEP41	ORPHA:475
HP:0001574	Abnormality of the integument	317662	FAM149B1	OMIM:618763
HP:0001574	Abnormality of the integument	317662	FAM149B1	ORPHA:2754
HP:0001574	Abnormality of the integument	9839	ZEB2	ORPHA:261552
HP:0001574	Abnormality of the integument	4330	MN1	OMIM:618774
HP:0001574	Abnormality of the integument	79600	TCTN1	ORPHA:475
HP:0001574	Abnormality of the integument	65250	CPLANE1	ORPHA:475
HP:0001574	Abnormality of the integument	65250	CPLANE1	ORPHA:2754
HP:0001574	Abnormality of the integument	91147	TMEM67	ORPHA:475
HP:0001574	Abnormality of the integument	91147	TMEM67	ORPHA:1454
HP:0001574	Abnormality of the integument	219844	HYLS1	ORPHA:475
HP:0001574	Abnormality of the integument	23247	KATNIP	ORPHA:475
HP:0001574	Abnormality of the integument	219854	TMEM218	ORPHA:475
HP:0001574	Abnormality of the integument	79867	TCTN2	ORPHA:475
HP:0001574	Abnormality of the integument	10464	PIBF1	ORPHA:475
HP:0001574	Abnormality of the integument	80210	ARMC9	ORPHA:475
HP:0001574	Abnormality of the integument	23116	TOGARAM1	ORPHA:475
HP:0001574	Abnormality of the integument	25776	CBY1	ORPHA:475
HP:0001574	Abnormality of the integument	27077	B9D1	ORPHA:475
HP:0001574	Abnormality of the integument	8363	H4C11	OMIM:619759
HP:0001574	Abnormality of the integument	78989	COLEC11	OMIM:265050
HP:0001574	Abnormality of the integument	78989	COLEC11	ORPHA:293843
HP:0001574	Abnormality of the integument	10472	ZBTB18	OMIM:612337
HP:0001574	Abnormality of the integument	3187	HNRNPH1	OMIM:620083
HP:0001574	Abnormality of the integument	9427	ECEL1	OMIM:615065
HP:0001574	Abnormality of the integument	84188	FAR1	OMIM:616154
HP:0001574	Abnormality of the integument	84188	FAR1	ORPHA:438178
HP:0001574	Abnormality of the integument	54517	PUS7	OMIM:618342
HP:0001574	Abnormality of the integument	92335	STRADA	ORPHA:500533
HP:0001574	Abnormality of the integument	56975	FAM20C	OMIM:259775
HP:0001574	Abnormality of the integument	26999	CYFIP2	OMIM:618008
HP:0001574	Abnormality of the integument	51524	TMEM138	ORPHA:2318
HP:0001574	Abnormality of the integument	23090	ZNF423	ORPHA:2318
HP:0001574	Abnormality of the integument	51259	TMEM216	ORPHA:2318
HP:0001574	Abnormality of the integument	51259	TMEM216	ORPHA:2754
HP:0001574	Abnormality of the integument	57545	CC2D2A	ORPHA:2318
HP:0001574	Abnormality of the integument	57545	CC2D2A	ORPHA:1454
HP:0001574	Abnormality of the integument	348180	CTU2	OMIM:618142
HP:0001574	Abnormality of the integument	6472	SHMT2	OMIM:619121
HP:0001574	Abnormality of the integument	113246	C12orf57	OMIM:218340
HP:0001574	Abnormality of the integument	259266	ASPM	OMIM:608716
HP:0001574	Abnormality of the integument	57020	VPS35L	OMIM:619135
HP:0001574	Abnormality of the integument	5147	PDE6D	ORPHA:2754
HP:0001574	Abnormality of the integument	356	FASLG	ORPHA:3261
HP:0001574	Abnormality of the integument	10125	RASGRP1	ORPHA:3261
HP:0001574	Abnormality of the integument	4072	EPCAM	ORPHA:144
HP:0001574	Abnormality of the integument	27030	MLH3	ORPHA:144
HP:0001574	Abnormality of the integument	22909	FAN1	ORPHA:144
HP:0001574	Abnormality of the integument	5378	PMS1	ORPHA:144
HP:0001574	Abnormality of the integument	64218	SEMA4A	ORPHA:440437
HP:0001574	Abnormality of the integument	657	BMPR1A	ORPHA:440437
HP:0001574	Abnormality of the integument	2304	FOXE1	OMIM:616534
HP:0001574	Abnormality of the integument	4913	NTHL1	OMIM:616415
HP:0001574	Abnormality of the integument	4913	NTHL1	ORPHA:454840
HP:0001574	Abnormality of the integument	9817	KEAP1	ORPHA:276399
HP:0001574	Abnormality of the integument	3621	ING1	OMIM:275355
HP:0001574	Abnormality of the integument	8795	TNFRSF10B	OMIM:275355
HP:0001574	Abnormality of the integument	81704	DOCK8	OMIM:243700
HP:0001574	Abnormality of the integument	81704	DOCK8	ORPHA:217390
HP:0001574	Abnormality of the integument	2224	FDPS	ORPHA:79152
HP:0001574	Abnormality of the integument	4597	MVD	ORPHA:79152
HP:0001574	Abnormality of the integument	63910	SLC17A9	ORPHA:79152
HP:0001574	Abnormality of the integument	256646	NUTM1	ORPHA:443167
HP:0001574	Abnormality of the integument	617	BCS1L	OMIM:262000
HP:0001574	Abnormality of the integument	3914	LAMB3	OMIM:226700
HP:0001574	Abnormality of the integument	3909	LAMA3	OMIM:226700
HP:0001574	Abnormality of the integument	3909	LAMA3	OMIM:619784
HP:0001574	Abnormality of the integument	3918	LAMC2	OMIM:226700
HP:0001574	Abnormality of the integument	3918	LAMC2	OMIM:619785
HP:0001574	Abnormality of the integument	3918	LAMC2	OMIM:619786
HP:0001574	Abnormality of the integument	5339	PLEC	OMIM:226730
HP:0001574	Abnormality of the integument	5339	PLEC	ORPHA:158684
HP:0001574	Abnormality of the integument	3691	ITGB4	OMIM:226730
HP:0001574	Abnormality of the integument	3691	ITGB4	ORPHA:158684
HP:0001574	Abnormality of the integument	3691	ITGB4	OMIM:619816
HP:0001574	Abnormality of the integument	3852	KRT5	ORPHA:158681
HP:0001574	Abnormality of the integument	3852	KRT5	ORPHA:79397
HP:0001574	Abnormality of the integument	3852	KRT5	ORPHA:79399
HP:0001574	Abnormality of the integument	3852	KRT5	ORPHA:79400
HP:0001574	Abnormality of the integument	3655	ITGA6	OMIM:619817
HP:0001574	Abnormality of the integument	3861	KRT14	ORPHA:79397
HP:0001574	Abnormality of the integument	3861	KRT14	ORPHA:79399
HP:0001574	Abnormality of the integument	3861	KRT14	ORPHA:79400
HP:0001574	Abnormality of the integument	2271	FH	OMIM:606812
HP:0001574	Abnormality of the integument	256297	PTF1A	OMIM:609069
HP:0001574	Abnormality of the integument	5346	PLIN1	ORPHA:280356
HP:0001574	Abnormality of the integument	221496	LEMD2	OMIM:619322
HP:0001574	Abnormality of the integument	6514	SLC2A2	OMIM:227810
HP:0001574	Abnormality of the integument	51305	KCNK9	OMIM:612292
HP:0001574	Abnormality of the integument	7043	TGFB3	OMIM:615582
HP:0001574	Abnormality of the integument	998	CDC42	ORPHA:487796
HP:0001574	Abnormality of the integument	998	CDC42	OMIM:616737
HP:0001574	Abnormality of the integument	4621	MYH3	ORPHA:2990
HP:0001574	Abnormality of the integument	1146	CHRNG	ORPHA:2990
HP:0001574	Abnormality of the integument	1854	DUT	OMIM:620044
HP:0001574	Abnormality of the integument	10943	MSL3	OMIM:301032
HP:0001574	Abnormality of the integument	8913	CACNA1G	ORPHA:458803
HP:0001574	Abnormality of the integument	3107	HLA-C	OMIM:177900
HP:0001574	Abnormality of the integument	2625	GATA3	ORPHA:2237
HP:0001574	Abnormality of the integument	130340	AP1S3	OMIM:616106
HP:0001574	Abnormality of the integument	64919	BCL11B	OMIM:617237
HP:0001574	Abnormality of the integument	26525	IL36RN	OMIM:614204
HP:0001574	Abnormality of the integument	3514	IGKC	ORPHA:183675
HP:0001574	Abnormality of the integument	3501	IGHG2	ORPHA:183675
HP:0001574	Abnormality of the integument	359948	IRF2BP2	OMIM:617765
HP:0001574	Abnormality of the integument	6307	MSMO1	OMIM:616834
HP:0001574	Abnormality of the integument	6868	ADAM17	ORPHA:294023
HP:0001574	Abnormality of the integument	1956	EGFR	ORPHA:294023
HP:0001574	Abnormality of the integument	5190	PEX6	ORPHA:3220
HP:0001574	Abnormality of the integument	1718	DHCR24	ORPHA:35107
HP:0001574	Abnormality of the integument	6850	SYK	OMIM:619381
HP:0001574	Abnormality of the integument	8294	H4C9	OMIM:619951
HP:0001574	Abnormality of the integument	2138	EYA1	OMIM:113650
HP:0001574	Abnormality of the integument	2138	EYA1	OMIM:602588
HP:0001574	Abnormality of the integument	2138	EYA1	ORPHA:52429
HP:0001574	Abnormality of the integument	2138	EYA1	ORPHA:2792
HP:0001574	Abnormality of the integument	2138	EYA1	OMIM:166780
HP:0001574	Abnormality of the integument	6495	SIX1	OMIM:113650
HP:0001574	Abnormality of the integument	6495	SIX1	ORPHA:52429
HP:0001574	Abnormality of the integument	6495	SIX1	OMIM:605192
HP:0001574	Abnormality of the integument	6495	SIX1	OMIM:608389
HP:0001574	Abnormality of the integument	3098	HK1	OMIM:618547
HP:0001574	Abnormality of the integument	286	ANK1	ORPHA:251066
HP:0001574	Abnormality of the integument	145258	GSC	OMIM:602471
HP:0001574	Abnormality of the integument	2702	GJA5	ORPHA:3303
HP:0001574	Abnormality of the integument	1482	NKX2-5	ORPHA:3303
HP:0001574	Abnormality of the integument	1482	NKX2-5	OMIM:187500
HP:0001574	Abnormality of the integument	137814	NKX2-6	ORPHA:3303
HP:0001574	Abnormality of the integument	3791	KDR	ORPHA:3303
HP:0001574	Abnormality of the integument	2627	GATA6	ORPHA:3303
HP:0001574	Abnormality of the integument	2627	GATA6	OMIM:187500
HP:0001574	Abnormality of the integument	2657	GDF1	ORPHA:3303
HP:0001574	Abnormality of the integument	182	JAG1	ORPHA:3303
HP:0001574	Abnormality of the integument	182	JAG1	OMIM:187500
HP:0001574	Abnormality of the integument	6899	TBX1	ORPHA:3303
HP:0001574	Abnormality of the integument	6899	TBX1	OMIM:187500
HP:0001574	Abnormality of the integument	140628	GATA5	ORPHA:3303
HP:0001574	Abnormality of the integument	10370	CITED2	ORPHA:3303
HP:0001574	Abnormality of the integument	23405	DICER1	OMIM:618272
HP:0001574	Abnormality of the integument	6299	SALL1	OMIM:107480
HP:0001574	Abnormality of the integument	51715	RAB23	OMIM:201000
HP:0001574	Abnormality of the integument	27031	NPHP3	OMIM:208540
HP:0001574	Abnormality of the integument	5075	PAX1	OMIM:615560
HP:0001574	Abnormality of the integument	5075	PAX1	ORPHA:2792
HP:0001574	Abnormality of the integument	23384	SPECC1L	ORPHA:1519
HP:0001574	Abnormality of the integument	23384	SPECC1L	OMIM:145420
HP:0001574	Abnormality of the integument	3759	KCNJ2	OMIM:170390
HP:0001574	Abnormality of the integument	9451	EIF2AK3	OMIM:226980
HP:0001574	Abnormality of the integument	4281	MID1	ORPHA:2745
HP:0001574	Abnormality of the integument	51729	WBP11	OMIM:619227
HP:0001574	Abnormality of the integument	2719	GPC3	OMIM:312870
HP:0001574	Abnormality of the integument	2239	GPC4	OMIM:312870
HP:0001574	Abnormality of the integument	53834	FGFRL1	OMIM:194190
HP:0001574	Abnormality of the integument	1487	CTBP1	OMIM:194190
HP:0001574	Abnormality of the integument	3954	LETM1	OMIM:194190
HP:0001574	Abnormality of the integument	7468	NSD2	OMIM:194190
HP:0001574	Abnormality of the integument	10815	CPLX1	OMIM:194190
HP:0001574	Abnormality of the integument	58499	ZNF462	OMIM:618619
HP:0001574	Abnormality of the integument	9790	BMS1	ORPHA:1114
HP:0001574	Abnormality of the integument	9790	BMS1	OMIM:107600
HP:0001574	Abnormality of the integument	55784	MCTP2	ORPHA:1596
HP:0001574	Abnormality of the integument	387	RHOA	OMIM:618727
HP:0001574	Abnormality of the integument	4758	NEU1	ORPHA:93399
HP:0001574	Abnormality of the integument	4758	NEU1	ORPHA:93400
HP:0001574	Abnormality of the integument	2074	ERCC6	OMIM:214150
HP:0001574	Abnormality of the integument	23556	PIGN	ORPHA:280633
HP:0001574	Abnormality of the integument	3763	KCNJ6	ORPHA:435628
HP:0001574	Abnormality of the integument	3763	KCNJ6	OMIM:614098
HP:0001574	Abnormality of the integument	81031	SLC2A10	OMIM:208050
HP:0001574	Abnormality of the integument	8425	LTBP4	OMIM:613177
HP:0001574	Abnormality of the integument	2067	ERCC1	ORPHA:90322
HP:0001574	Abnormality of the integument	25839	COG4	OMIM:618150
HP:0001574	Abnormality of the integument	2200	FBN1	OMIM:616914
HP:0001574	Abnormality of the integument	80232	WDR26	OMIM:617616
HP:0001574	Abnormality of the integument	80232	WDR26	ORPHA:513456
HP:0001574	Abnormality of the integument	5361	PLXNA1	OMIM:619955
HP:0001574	Abnormality of the integument	57511	COG6	ORPHA:363523
HP:0001574	Abnormality of the integument	10026	PIGK	OMIM:618879
HP:0001574	Abnormality of the integument	51111	KMT5B	OMIM:617788
HP:0001574	Abnormality of the integument	7403	KDM6A	ORPHA:2322
HP:0001574	Abnormality of the integument	7403	KDM6A	OMIM:300867
HP:0001574	Abnormality of the integument	3190	HNRNPK	OMIM:616580
HP:0001574	Abnormality of the integument	92255	LMBRD2	OMIM:619694
HP:0001574	Abnormality of the integument	10265	IRX5	OMIM:611174
HP:0001574	Abnormality of the integument	23184	MESD	OMIM:618644
HP:0001574	Abnormality of the integument	10524	KAT5	OMIM:619103
HP:0001574	Abnormality of the integument	5813	PURA	ORPHA:314655
HP:0001574	Abnormality of the integument	1536	CYBB	OMIM:306400
HP:0001574	Abnormality of the integument	4688	NCF2	OMIM:233710
HP:0001574	Abnormality of the integument	1535	CYBA	OMIM:233690
HP:0001574	Abnormality of the integument	55612	FERMT1	OMIM:173650
HP:0001574	Abnormality of the integument	8943	AP3D1	ORPHA:54
HP:0001574	Abnormality of the integument	4935	GPR143	ORPHA:54
HP:0001574	Abnormality of the integument	4935	GPR143	OMIM:300500
HP:0001574	Abnormality of the integument	778	CACNA1F	OMIM:300600
HP:0001574	Abnormality of the integument	1497	CTNS	OMIM:219800
HP:0001574	Abnormality of the integument	3257	HPS1	OMIM:203300
HP:0001574	Abnormality of the integument	84343	HPS3	OMIM:614072
HP:0001574	Abnormality of the integument	1638	DCT	OMIM:619165
HP:0001574	Abnormality of the integument	6492	SIM1	ORPHA:398079
HP:0001574	Abnormality of the integument	5053	PAH	ORPHA:79254
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:98754
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:177904
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:177901
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:177910
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:177907
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:411515
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:98754
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177904
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177901
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177910
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:98794
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:98795
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:411511
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:411515
HP:0001574	Abnormality of the integument	57724	EPG5	OMIM:242840
HP:0001574	Abnormality of the integument	51151	SLC45A2	OMIM:606574
HP:0001574	Abnormality of the integument	51151	SLC45A2	ORPHA:79435
HP:0001574	Abnormality of the integument	28956	LAMTOR2	ORPHA:90023
HP:0001574	Abnormality of the integument	57194	ATP10A	ORPHA:411515
HP:0001574	Abnormality of the integument	1026	CDKN1A	ORPHA:652
HP:0001574	Abnormality of the integument	1031	CDKN2C	ORPHA:652
HP:0001574	Abnormality of the integument	23545	ATP6V0A2	ORPHA:357074
HP:0001574	Abnormality of the integument	523	ATP6V1A	ORPHA:357074
HP:0001574	Abnormality of the integument	529	ATP6V1E1	ORPHA:357074
HP:0001574	Abnormality of the integument	84231	TRAF7	OMIM:618164
HP:0001574	Abnormality of the integument	54496	PRMT7	OMIM:617157
HP:0001574	Abnormality of the integument	8260	NAA10	OMIM:300855
HP:0001574	Abnormality of the integument	2006	ELN	ORPHA:90348
HP:0001574	Abnormality of the integument	10516	FBLN5	ORPHA:90348
HP:0001574	Abnormality of the integument	5832	ALDH18A1	ORPHA:90348
HP:0001574	Abnormality of the integument	55165	CEP55	OMIM:236500
HP:0001574	Abnormality of the integument	6913	TBX15	ORPHA:93333
HP:0001574	Abnormality of the integument	55593	OTUD5	OMIM:301056
HP:0001574	Abnormality of the integument	9896	FIG4	OMIM:216340
HP:0001574	Abnormality of the integument	9896	FIG4	ORPHA:3472
HP:0001574	Abnormality of the integument	56945	MRPS22	OMIM:611719
HP:0001574	Abnormality of the integument	79848	CSPP1	ORPHA:397715
HP:0001574	Abnormality of the integument	9786	KIAA0586	ORPHA:397715
HP:0001574	Abnormality of the integument	10682	EBP	OMIM:300960
HP:0001574	Abnormality of the integument	55697	VAC14	ORPHA:3472
HP:0001574	Abnormality of the integument	4716	NDUFB10	OMIM:619003
HP:0001574	Abnormality of the integument	285590	SH3PXD2B	OMIM:249420
HP:0001574	Abnormality of the integument	22884	WDR37	OMIM:618652
HP:0001574	Abnormality of the integument	2623	GATA1	OMIM:190685
HP:0001574	Abnormality of the integument	8621	CDK13	OMIM:617360
HP:0001574	Abnormality of the integument	388015	RTL1	ORPHA:254528
HP:0001574	Abnormality of the integument	388015	RTL1	ORPHA:96334
HP:0001574	Abnormality of the integument	8788	DLK1	ORPHA:254528
HP:0001574	Abnormality of the integument	8788	DLK1	ORPHA:96334
HP:0001574	Abnormality of the integument	55384	MEG3	ORPHA:254528
HP:0001574	Abnormality of the integument	55384	MEG3	ORPHA:96334
HP:0001574	Abnormality of the integument	2263	FGFR2	OMIM:123790
HP:0001574	Abnormality of the integument	51021	MRPS16	OMIM:610498
HP:0001574	Abnormality of the integument	124997	WDR81	OMIM:617967
HP:0001574	Abnormality of the integument	2683	B4GALT1	ORPHA:79332
HP:0001574	Abnormality of the integument	5189	PEX1	OMIM:214100
HP:0001574	Abnormality of the integument	857	CAV1	OMIM:606721
HP:0001574	Abnormality of the integument	10269	ZMPSTE24	OMIM:608612
HP:0001574	Abnormality of the integument	54463	RETREG1	OMIM:201300
HP:0001574	Abnormality of the integument	54463	RETREG1	OMIM:613115
HP:0001574	Abnormality of the integument	65125	WNK1	OMIM:201300
HP:0001574	Abnormality of the integument	6335	SCN9A	OMIM:201300
HP:0001574	Abnormality of the integument	547	KIF1A	OMIM:201300
HP:0001574	Abnormality of the integument	547	KIF1A	OMIM:614213
HP:0001574	Abnormality of the integument	22948	CCT5	OMIM:256840
HP:0001574	Abnormality of the integument	22948	CCT5	ORPHA:139578
HP:0001574	Abnormality of the integument	4358	MPV17	OMIM:256810
HP:0001574	Abnormality of the integument	4803	NGF	OMIM:608654
HP:0001574	Abnormality of the integument	113189	CHST14	ORPHA:2953
HP:0001574	Abnormality of the integument	29940	DSE	ORPHA:2953
HP:0001574	Abnormality of the integument	26053	AUTS2	OMIM:615834
HP:0001574	Abnormality of the integument	26053	AUTS2	ORPHA:352490
HP:0001574	Abnormality of the integument	63895	PIEZO2	OMIM:108145
HP:0001574	Abnormality of the integument	8558	CDK10	OMIM:617694
HP:0001574	Abnormality of the integument	283209	PGM2L1	OMIM:620191
HP:0001574	Abnormality of the integument	80816	ASXL3	OMIM:615485
HP:0001574	Abnormality of the integument	1806	DPYD	ORPHA:1675
HP:0001574	Abnormality of the integument	23446	SLC44A1	OMIM:618868
HP:0001574	Abnormality of the integument	8022	LHX3	ORPHA:226307
HP:0001574	Abnormality of the integument	7167	TPI1	OMIM:615512
HP:0001574	Abnormality of the integument	8573	CASK	OMIM:300908
HP:0001574	Abnormality of the integument	2539	G6PD	OMIM:300908
HP:0001574	Abnormality of the integument	2584	GALK1	OMIM:230200
HP:0001574	Abnormality of the integument	23600	AMACR	OMIM:214950
HP:0001574	Abnormality of the integument	6609	SMPD1	OMIM:257200
HP:0001574	Abnormality of the integument	6718	AKR1D1	ORPHA:79303
HP:0001574	Abnormality of the integument	123264	SLC51B	OMIM:619481
HP:0001574	Abnormality of the integument	5631	PRPS1	ORPHA:423479
HP:0001574	Abnormality of the integument	200894	ARL13B	OMIM:612291
HP:0001574	Abnormality of the integument	50506	DUOX2	ORPHA:226316
HP:0001574	Abnormality of the integument	50506	DUOX2	ORPHA:95716
HP:0001574	Abnormality of the integument	5192	PEX10	OMIM:614871
HP:0001574	Abnormality of the integument	55904	KMT2E	OMIM:618512
HP:0001574	Abnormality of the integument	25973	PARS2	OMIM:618437
HP:0001574	Abnormality of the integument	11093	ADAMTS13	OMIM:274150
HP:0001574	Abnormality of the integument	7252	TSHB	ORPHA:90674
HP:0001574	Abnormality of the integument	9095	TBX19	ORPHA:199296
HP:0001574	Abnormality of the integument	10577	NPC2	OMIM:607625
HP:0001574	Abnormality of the integument	6554	SLC10A1	OMIM:619256
HP:0001574	Abnormality of the integument	55898	UNC45A	OMIM:619377
HP:0001574	Abnormality of the integument	79989	IFT56	OMIM:619534
HP:0001574	Abnormality of the integument	537	ATP6AP1	OMIM:300972
HP:0001574	Abnormality of the integument	130589	GALM	OMIM:618881
HP:0001574	Abnormality of the integument	8565	YARS1	OMIM:619418
HP:0001574	Abnormality of the integument	405753	DUOXA2	ORPHA:95716
HP:0001574	Abnormality of the integument	6528	SLC5A5	ORPHA:95716
HP:0001574	Abnormality of the integument	7038	TG	ORPHA:95716
HP:0001574	Abnormality of the integument	7173	TPO	ORPHA:95716
HP:0001574	Abnormality of the integument	389434	IYD	ORPHA:95716
HP:0001574	Abnormality of the integument	84317	CCDC115	OMIM:616828
HP:0001574	Abnormality of the integument	4864	NPC1	OMIM:257220
HP:0001574	Abnormality of the integument	7201	TRHR	ORPHA:99832
HP:0001574	Abnormality of the integument	5313	PKLR	ORPHA:766
HP:0001574	Abnormality of the integument	2035	EPB41	ORPHA:288
HP:0001574	Abnormality of the integument	2995	GYPC	ORPHA:288
HP:0001574	Abnormality of the integument	6708	SPTA1	ORPHA:288
HP:0001574	Abnormality of the integument	6567	SLC16A2	ORPHA:59
HP:0001574	Abnormality of the integument	2688	GH1	OMIM:262400
HP:0001574	Abnormality of the integument	146059	CDAN1	OMIM:224120
HP:0001574	Abnormality of the integument	54658	UGT1A1	ORPHA:79234
HP:0001574	Abnormality of the integument	54658	UGT1A1	ORPHA:79235
HP:0001574	Abnormality of the integument	4763	NF1	OMIM:162210
HP:0001574	Abnormality of the integument	55275	VPS53	OMIM:615851
HP:0001574	Abnormality of the integument	10093	ARPC4	OMIM:620141
HP:0001574	Abnormality of the integument	5156	PDGFRA	ORPHA:44890
HP:0001574	Abnormality of the integument	55719	SLF2	OMIM:620184
HP:0001574	Abnormality of the integument	1508	CTSB	OMIM:148370
HP:0001574	Abnormality of the integument	5354	PLP1	ORPHA:280229
HP:0001574	Abnormality of the integument	7386	UQCRFS1	OMIM:618775
HP:0001574	Abnormality of the integument	2815	GP9	ORPHA:274
HP:0001574	Abnormality of the integument	5568	PRKACG	OMIM:616176
HP:0001574	Abnormality of the integument	84342	COG8	ORPHA:95428
HP:0001574	Abnormality of the integument	2159	F10	ORPHA:328
HP:0001574	Abnormality of the integument	2153	F5	ORPHA:326
HP:0001574	Abnormality of the integument	412	STS	OMIM:308100
HP:0001574	Abnormality of the integument	4158	MC2R	OMIM:202200
HP:0001574	Abnormality of the integument	4158	MC2R	ORPHA:361
HP:0001574	Abnormality of the integument	30061	SLC40A1	ORPHA:139491
HP:0001574	Abnormality of the integument	1583	CYP11A1	ORPHA:168558
HP:0001574	Abnormality of the integument	1583	CYP11A1	ORPHA:289548
HP:0001574	Abnormality of the integument	5080	PAX6	ORPHA:2253
HP:0001574	Abnormality of the integument	56246	MRAP	ORPHA:361
HP:0001574	Abnormality of the integument	6770	STAR	ORPHA:361
HP:0001574	Abnormality of the integument	23530	NNT	ORPHA:361
HP:0001574	Abnormality of the integument	10587	TXNRD2	ORPHA:361
HP:0001574	Abnormality of the integument	57817	HAMP	ORPHA:79230
HP:0001574	Abnormality of the integument	148738	HJV	ORPHA:79230
HP:0001574	Abnormality of the integument	3662	IRF4	ORPHA:3452
HP:0001574	Abnormality of the integument	362	AQP5	OMIM:600231
HP:0001574	Abnormality of the integument	362	AQP5	ORPHA:2337
HP:0001574	Abnormality of the integument	145264	SERPINA12	ORPHA:86923
HP:0001574	Abnormality of the integument	9342	SNAP29	ORPHA:66631
HP:0001574	Abnormality of the integument	4841	NONO	ORPHA:466791
HP:0001574	Abnormality of the integument	427	ASAH1	OMIM:228000
HP:0001574	Abnormality of the integument	427	ASAH1	ORPHA:333
HP:0001574	Abnormality of the integument	27238	GPKOW	ORPHA:2570
HP:0001574	Abnormality of the integument	90416	CCDC32	OMIM:619123
HP:0001574	Abnormality of the integument	5925	RB1	ORPHA:1587
HP:0001574	Abnormality of the integument	55681	SCYL2	ORPHA:1143
HP:0001574	Abnormality of the integument	57222	ERGIC1	ORPHA:1143
HP:0001574	Abnormality of the integument	3209	HOXA13	ORPHA:2438
HP:0001574	Abnormality of the integument	1723	DHODH	ORPHA:246
HP:0001574	Abnormality of the integument	57167	SALL4	ORPHA:2307
HP:0001574	Abnormality of the integument	4001	LMNB1	OMIM:169500
HP:0001574	Abnormality of the integument	4001	LMNB1	ORPHA:99027
HP:0001574	Abnormality of the integument	9791	PTDSS1	ORPHA:2658
HP:0001574	Abnormality of the integument	6804	STX1A	ORPHA:904
HP:0001574	Abnormality of the integument	7461	CLIP2	ORPHA:904
HP:0001574	Abnormality of the integument	8468	FKBP6	ORPHA:904
HP:0001574	Abnormality of the integument	5982	RFC2	ORPHA:904
HP:0001574	Abnormality of the integument	2969	GTF2I	ORPHA:904
HP:0001574	Abnormality of the integument	3984	LIMK1	ORPHA:904
HP:0001574	Abnormality of the integument	9569	GTF2IRD1	ORPHA:904
HP:0001574	Abnormality of the integument	155382	VPS37D	ORPHA:904
HP:0001574	Abnormality of the integument	155368	METTL27	ORPHA:904
HP:0001574	Abnormality of the integument	114049	BUD23	ORPHA:904
HP:0001574	Abnormality of the integument	7458	EIF4H	ORPHA:904
HP:0001574	Abnormality of the integument	84163	GTF2IRD2	ORPHA:904
HP:0001574	Abnormality of the integument	9275	BCL7B	ORPHA:904
HP:0001574	Abnormality of the integument	26608	TBL2	ORPHA:904
HP:0001574	Abnormality of the integument	653361	NCF1	ORPHA:904
HP:0001574	Abnormality of the integument	135886	TMEM270	ORPHA:904
HP:0001574	Abnormality of the integument	9031	BAZ1B	ORPHA:904
HP:0001574	Abnormality of the integument	1277	COL1A1	ORPHA:287
HP:0001574	Abnormality of the integument	1289	COL5A1	ORPHA:287
HP:0001574	Abnormality of the integument	1290	COL5A2	ORPHA:287
HP:0001574	Abnormality of the integument	1291	COL6A1	OMIM:254090
HP:0001574	Abnormality of the integument	1292	COL6A2	OMIM:254090
HP:0001574	Abnormality of the integument	1293	COL6A3	OMIM:254090
HP:0001574	Abnormality of the integument	55033	FKBP14	ORPHA:300179
HP:0001574	Abnormality of the integument	55033	FKBP14	OMIM:614557
HP:0001574	Abnormality of the integument	79651	RHBDF2	OMIM:148500
HP:0001574	Abnormality of the integument	55851	PSENEN	OMIM:613736
HP:0001574	Abnormality of the integument	9325	TRIP4	OMIM:617066
HP:0001574	Abnormality of the integument	9325	TRIP4	ORPHA:486815
HP:0001574	Abnormality of the integument	4921	DDR2	OMIM:618175
HP:0001574	Abnormality of the integument	5950	RBP4	OMIM:615147
HP:0001574	Abnormality of the integument	6611	SMS	ORPHA:3063
HP:0001574	Abnormality of the integument	283652	SLC24A5	OMIM:113750
HP:0001574	Abnormality of the integument	23592	LEMD3	ORPHA:1306
HP:0001574	Abnormality of the integument	4035	LRP1	ORPHA:79100
HP:0001574	Abnormality of the integument	4882	NPR2	OMIM:602875
HP:0001574	Abnormality of the integument	715	C1R	OMIM:130080
HP:0001574	Abnormality of the integument	5351	PLOD1	OMIM:225400
HP:0001574	Abnormality of the integument	84627	ZNF469	OMIM:229200
HP:0001574	Abnormality of the integument	2677	GGCX	ORPHA:436274
HP:0001574	Abnormality of the integument	54	ACP5	OMIM:607944
HP:0001574	Abnormality of the integument	378884	NHLRC1	ORPHA:501
HP:0001574	Abnormality of the integument	7957	EPM2A	ORPHA:501
HP:0001574	Abnormality of the integument	257	ALX3	OMIM:136760
HP:0001574	Abnormality of the integument	6785	ELOVL4	OMIM:133190
HP:0001574	Abnormality of the integument	84570	COL25A1	ORPHA:91411
HP:0001574	Abnormality of the integument	79776	ZFHX4	ORPHA:91411
HP:0001574	Abnormality of the integument	26276	VPS33B	OMIM:620009
HP:0001574	Abnormality of the integument	2629	GBA1	OMIM:608013
HP:0001574	Abnormality of the integument	10999	SLC27A4	ORPHA:88621
HP:0001574	Abnormality of the integument	10558	SPTLC1	ORPHA:36386
HP:0001574	Abnormality of the integument	25923	ATL3	ORPHA:36386
HP:0001574	Abnormality of the integument	9517	SPTLC2	ORPHA:36386
HP:0001574	Abnormality of the integument	51062	ATL1	ORPHA:36386
HP:0001574	Abnormality of the integument	5373	PMM2	ORPHA:79318
HP:0001574	Abnormality of the integument	5373	PMM2	OMIM:212065
HP:0001574	Abnormality of the integument	7040	TGFB1	ORPHA:1328
HP:0001574	Abnormality of the integument	79718	TBL1XR1	ORPHA:487825
HP:0001574	Abnormality of the integument	57152	SLURP1	OMIM:248300
HP:0001574	Abnormality of the integument	286887	KRT6C	OMIM:615735
HP:0001574	Abnormality of the integument	29926	GMPPA	ORPHA:869
HP:0001574	Abnormality of the integument	60684	TRAPPC11	ORPHA:869
HP:0001574	Abnormality of the integument	8086	AAAS	ORPHA:869
HP:0001574	Abnormality of the integument	4436	MSH2	OMIM:619096
HP:0001574	Abnormality of the integument	2956	MSH6	OMIM:619097
HP:0001574	Abnormality of the integument	5980	REV3L	ORPHA:570
HP:0001574	Abnormality of the integument	23129	PLXND1	ORPHA:570
HP:0001574	Abnormality of the integument	11253	MAN1B1	ORPHA:397941
HP:0001574	Abnormality of the integument	2189	FANCG	OMIM:614082
HP:0001574	Abnormality of the integument	2189	FANCG	ORPHA:84
HP:0001574	Abnormality of the integument	10459	MAD2L2	ORPHA:84
HP:0001574	Abnormality of the integument	7516	XRCC2	ORPHA:84
HP:0001574	Abnormality of the integument	29089	UBE2T	ORPHA:84
HP:0001574	Abnormality of the integument	675	BRCA2	ORPHA:84
HP:0001574	Abnormality of the integument	55120	FANCL	ORPHA:84
HP:0001574	Abnormality of the integument	2177	FANCD2	ORPHA:84
HP:0001574	Abnormality of the integument	2175	FANCA	ORPHA:84
HP:0001574	Abnormality of the integument	2187	FANCB	ORPHA:84
HP:0001574	Abnormality of the integument	2176	FANCC	ORPHA:84
HP:0001574	Abnormality of the integument	2178	FANCE	ORPHA:84
HP:0001574	Abnormality of the integument	2188	FANCF	ORPHA:84
HP:0001574	Abnormality of the integument	5888	RAD51	ORPHA:84
HP:0001574	Abnormality of the integument	5889	RAD51C	ORPHA:84
HP:0001574	Abnormality of the integument	55159	RFWD3	ORPHA:84
HP:0001574	Abnormality of the integument	83990	BRIP1	ORPHA:84
HP:0001574	Abnormality of the integument	83990	BRIP1	OMIM:609054
HP:0001574	Abnormality of the integument	57697	FANCM	ORPHA:84
HP:0001574	Abnormality of the integument	79728	PALB2	ORPHA:84
HP:0001574	Abnormality of the integument	84464	SLX4	ORPHA:84
HP:0001574	Abnormality of the integument	55215	FANCI	ORPHA:84
HP:0001574	Abnormality of the integument	11322	TMC6	ORPHA:302
HP:0001574	Abnormality of the integument	3574	IL7	ORPHA:302
HP:0001574	Abnormality of the integument	147138	TMC8	ORPHA:302
HP:0001574	Abnormality of the integument	10519	CIB1	ORPHA:302
HP:0001574	Abnormality of the integument	4292	MLH1	OMIM:276300
HP:0001574	Abnormality of the integument	10483	SEC23B	ORPHA:201
HP:0001574	Abnormality of the integument	6390	SDHB	ORPHA:201
HP:0001574	Abnormality of the integument	6392	SDHD	ORPHA:201
HP:0001574	Abnormality of the integument	6391	SDHC	ORPHA:201
HP:0001574	Abnormality of the integument	205717	USF3	ORPHA:201
HP:0001574	Abnormality of the integument	100144748	KLLN	ORPHA:201
HP:0001574	Abnormality of the integument	10058	ABCB6	ORPHA:241
HP:0001574	Abnormality of the integument	9184	BUB3	ORPHA:1052
HP:0001574	Abnormality of the integument	699	BUB1	ORPHA:1052
HP:0001574	Abnormality of the integument	9702	CEP57	ORPHA:1052
HP:0001574	Abnormality of the integument	9319	TRIP13	ORPHA:1052
HP:0001574	Abnormality of the integument	701	BUB1B	ORPHA:1052
HP:0001574	Abnormality of the integument	5395	PMS2	OMIM:619101
HP:0001574	Abnormality of the integument	151188	ARL6IP6	ORPHA:1556
HP:0001574	Abnormality of the integument	727	C5	OMIM:609536
HP:0001574	Abnormality of the integument	5792	PTPRF	OMIM:616001
HP:0001574	Abnormality of the integument	283989	TSEN54	ORPHA:2524
HP:0001574	Abnormality of the integument	116461	TSEN15	ORPHA:2524
HP:0001574	Abnormality of the integument	79042	TSEN34	ORPHA:2524
HP:0001574	Abnormality of the integument	51091	SEPSECS	ORPHA:2524
HP:0001574	Abnormality of the integument	129563	DIS3L2	ORPHA:2849
HP:0001574	Abnormality of the integument	7140	TNNT3	ORPHA:1147
HP:0001574	Abnormality of the integument	7136	TNNI2	ORPHA:1147
HP:0001574	Abnormality of the integument	8074	FGF23	OMIM:617993
HP:0001574	Abnormality of the integument	54880	BCOR	OMIM:300166
HP:0001574	Abnormality of the integument	2658	GDF2	ORPHA:774
HP:0001574	Abnormality of the integument	94	ACVRL1	ORPHA:774
HP:0001574	Abnormality of the integument	2022	ENG	ORPHA:774
HP:0001574	Abnormality of the integument	84277	DNAJC30	OMIM:619382
HP:0001574	Abnormality of the integument	84277	DNAJC30	ORPHA:104
HP:0001574	Abnormality of the integument	29072	SETD2	OMIM:620157
HP:0001574	Abnormality of the integument	29072	SETD2	OMIM:620155
HP:0001574	Abnormality of the integument	5111	PCNA	ORPHA:438134
HP:0001574	Abnormality of the integument	4535	MT-ND1	ORPHA:104
HP:0001574	Abnormality of the integument	4536	MT-ND2	ORPHA:104
HP:0001574	Abnormality of the integument	4538	MT-ND4	ORPHA:104
HP:0001574	Abnormality of the integument	4720	NDUFS2	ORPHA:104
HP:0001574	Abnormality of the integument	4512	MT-CO1	ORPHA:104
HP:0001574	Abnormality of the integument	4514	MT-CO3	ORPHA:104
HP:0001574	Abnormality of the integument	4519	MT-CYB	ORPHA:104
HP:0001574	Abnormality of the integument	4508	MT-ATP6	ORPHA:104
HP:0001574	Abnormality of the integument	4540	MT-ND5	ORPHA:104
HP:0001574	Abnormality of the integument	4541	MT-ND6	ORPHA:104
HP:0001574	Abnormality of the integument	4539	MT-ND4L	ORPHA:104
HP:0001574	Abnormality of the integument	10262	SF3B4	ORPHA:245
HP:0001574	Abnormality of the integument	10262	SF3B4	OMIM:154400
HP:0001574	Abnormality of the integument	6651	SON	ORPHA:500150
HP:0001574	Abnormality of the integument	1120	CHKB	OMIM:602541
HP:0001574	Abnormality of the integument	128486	FITM2	OMIM:618635
HP:0001574	Abnormality of the integument	1287	COL4A5	OMIM:301050
HP:0001574	Abnormality of the integument	3560	IL2RB	OMIM:618495
HP:0001574	Abnormality of the integument	415	ARSL	OMIM:302950
HP:0001574	Abnormality of the integument	2010	EMD	ORPHA:98863
HP:0001574	Abnormality of the integument	10371	SEMA3A	ORPHA:478
HP:0001574	Abnormality of the integument	23767	FLRT3	ORPHA:478
HP:0001574	Abnormality of the integument	79625	NDNF	ORPHA:478
HP:0001574	Abnormality of the integument	1630	DCC	ORPHA:478
HP:0001574	Abnormality of the integument	54756	IL17RD	ORPHA:478
HP:0001574	Abnormality of the integument	79188	TMEM43	ORPHA:98853
HP:0001574	Abnormality of the integument	23345	SYNE1	ORPHA:98853
HP:0001574	Abnormality of the integument	23224	SYNE2	ORPHA:98853
HP:0001574	Abnormality of the integument	84295	PHF6	ORPHA:127
HP:0001574	Abnormality of the integument	63035	BCORL1	OMIM:301029
HP:0001574	Abnormality of the integument	4700	NDUFA6	OMIM:618253
HP:0001574	Abnormality of the integument	79827	CLMP	ORPHA:2301
HP:0001574	Abnormality of the integument	490	ATP2B1	OMIM:619910
HP:0001574	Abnormality of the integument	5557	PRIM1	OMIM:620005
HP:0001574	Abnormality of the integument	9757	KMT2B	OMIM:619934
HP:0001574	Abnormality of the integument	84081	NSRP1	OMIM:620001
HP:0001574	Abnormality of the integument	57688	ZSWIM6	ORPHA:1827
HP:0001574	Abnormality of the integument	7372	UMPS	ORPHA:30
HP:0001574	Abnormality of the integument	51098	IFT52	ORPHA:1515
HP:0001574	Abnormality of the integument	57728	WDR19	ORPHA:1515
HP:0001574	Abnormality of the integument	860	RUNX2	ORPHA:1452
HP:0001574	Abnormality of the integument	10084	PQBP1	ORPHA:93947
HP:0001574	Abnormality of the integument	977	CD151	OMIM:609057
HP:0001574	Abnormality of the integument	4141	MARS1	OMIM:619692
HP:0001574	Abnormality of the integument	10616	RBCK1	OMIM:615895
HP:0001574	Abnormality of the integument	340061	STING1	OMIM:615934
HP:0001574	Abnormality of the integument	284654	RSPO1	OMIM:610644
HP:0001574	Abnormality of the integument	1475	CSTA	OMIM:607936
HP:0001574	Abnormality of the integument	51371	POMP	OMIM:601952
HP:0001574	Abnormality of the integument	667	DST	OMIM:615425
HP:0001574	Abnormality of the integument	134218	DNAJC21	OMIM:617052
HP:0001574	Abnormality of the integument	54914	FOCAD	OMIM:619991
HP:0001574	Abnormality of the integument	8085	KMT2D	OMIM:620186
HP:0001574	Abnormality of the integument	2934	GSN	ORPHA:85448
HP:0001574	Abnormality of the integument	79977	GRHL2	OMIM:616029
HP:0001574	Abnormality of the integument	22861	NLRP1	OMIM:615225
HP:0001574	Abnormality of the integument	3561	IL2RG	ORPHA:276
HP:0001574	Abnormality of the integument	3561	IL2RG	OMIM:300400
HP:0001574	Abnormality of the integument	64170	CARD9	OMIM:212050
HP:0001574	Abnormality of the integument	84905	ZNF341	OMIM:618282
HP:0001574	Abnormality of the integument	915	CD3D	ORPHA:169160
HP:0001574	Abnormality of the integument	916	CD3E	ORPHA:169160
HP:0001574	Abnormality of the integument	919	CD247	ORPHA:169160
HP:0001574	Abnormality of the integument	64421	DCLRE1C	ORPHA:275
HP:0001574	Abnormality of the integument	3551	IKBKB	OMIM:615592
HP:0001574	Abnormality of the integument	6772	STAT1	OMIM:614162
HP:0001574	Abnormality of the integument	326	AIRE	OMIM:240300
HP:0001574	Abnormality of the integument	7037	TFRC	OMIM:616740
HP:0001574	Abnormality of the integument	6097	RORC	OMIM:616622
HP:0001574	Abnormality of the integument	3932	LCK	OMIM:615758
HP:0001574	Abnormality of the integument	23765	IL17RA	OMIM:613953
HP:0001574	Abnormality of the integument	959	CD40LG	OMIM:308230
HP:0001574	Abnormality of the integument	5293	PIK3CD	ORPHA:221139
HP:0001574	Abnormality of the integument	90417	KNSTRN	ORPHA:221139
HP:0001574	Abnormality of the integument	8546	AP3B1	OMIM:608233
HP:0001574	Abnormality of the integument	51311	TLR8	OMIM:301078
HP:0001574	Abnormality of the integument	9948	WDR1	OMIM:150550
HP:0001574	Abnormality of the integument	11151	CORO1A	OMIM:615401
HP:0001574	Abnormality of the integument	1794	DOCK2	OMIM:616433
HP:0001574	Abnormality of the integument	10758	TRAF3IP2	OMIM:615527
HP:0001574	Abnormality of the integument	917	CD3G	OMIM:615607
HP:0001574	Abnormality of the integument	7535	ZAP70	ORPHA:911
HP:0001574	Abnormality of the integument	3718	JAK3	ORPHA:35078
HP:0001574	Abnormality of the integument	5824	PEX19	OMIM:614886
HP:0001574	Abnormality of the integument	1777	DNASE2	OMIM:619858
HP:0001574	Abnormality of the integument	25939	SAMHD1	OMIM:614415
HP:0001574	Abnormality of the integument	25939	SAMHD1	OMIM:612952
HP:0001574	Abnormality of the integument	25939	SAMHD1	ORPHA:51
HP:0001574	Abnormality of the integument	64135	IFIH1	OMIM:615846
HP:0001574	Abnormality of the integument	64135	IFIH1	ORPHA:51
HP:0001574	Abnormality of the integument	100147744	RNU7-1	OMIM:619487
HP:0001574	Abnormality of the integument	100147744	RNU7-1	ORPHA:51
HP:0001574	Abnormality of the integument	10535	RNASEH2A	ORPHA:51
HP:0001574	Abnormality of the integument	84153	RNASEH2C	ORPHA:51
HP:0001574	Abnormality of the integument	84153	RNASEH2C	OMIM:610329
HP:0001574	Abnormality of the integument	79621	RNASEH2B	ORPHA:51
HP:0001574	Abnormality of the integument	103	ADAR	ORPHA:51
HP:0001574	Abnormality of the integument	103	ADAR	OMIM:615010
HP:0001574	Abnormality of the integument	134353	LSM11	ORPHA:51
HP:0001574	Abnormality of the integument	7249	TSC2	OMIM:613254
HP:0001574	Abnormality of the integument	7249	TSC2	ORPHA:805
HP:0001574	Abnormality of the integument	3458	IFNG	OMIM:613254
HP:0001574	Abnormality of the integument	3458	IFNG	ORPHA:805
HP:0001574	Abnormality of the integument	7248	TSC1	ORPHA:805
HP:0001574	Abnormality of the integument	7248	TSC1	OMIM:191100
HP:0001574	Abnormality of the integument	23509	POFUT1	OMIM:615327
HP:0001574	Abnormality of the integument	4221	MEN1	OMIM:131100
HP:0001574	Abnormality of the integument	80324	PUS1	OMIM:600462
HP:0001574	Abnormality of the integument	80324	PUS1	ORPHA:2598
HP:0001574	Abnormality of the integument	1500	CTNND1	OMIM:617681
HP:0001574	Abnormality of the integument	1500	CTNND1	ORPHA:1997
HP:0001574	Abnormality of the integument	2303	FOXC2	OMIM:153400
HP:0001574	Abnormality of the integument	2303	FOXC2	ORPHA:33001
HP:0001574	Abnormality of the integument	1748	DLX4	OMIM:616788
HP:0001574	Abnormality of the integument	57479	PRR12	OMIM:619539
HP:0001574	Abnormality of the integument	999	CDH1	OMIM:119580
HP:0001574	Abnormality of the integument	999	CDH1	ORPHA:1997
HP:0001574	Abnormality of the integument	51067	YARS2	ORPHA:2598
HP:0001574	Abnormality of the integument	9928	KIF14	OMIM:616258
HP:0001574	Abnormality of the integument	22806	IKZF3	OMIM:619437
HP:0001574	Abnormality of the integument	3110	MNX1	OMIM:176450
HP:0001574	Abnormality of the integument	1185	CLCN6	OMIM:619173
HP:0001574	Abnormality of the integument	2222	FDFT1	OMIM:618156
HP:0001574	Abnormality of the integument	11107	PRDM5	ORPHA:90354
HP:0001574	Abnormality of the integument	5626	PROP1	ORPHA:95494
HP:0001574	Abnormality of the integument	5626	PROP1	ORPHA:90695
HP:0001574	Abnormality of the integument	2736	GLI2	ORPHA:95494
HP:0001574	Abnormality of the integument	89884	LHX4	ORPHA:95494
HP:0001574	Abnormality of the integument	3170	FOXA2	ORPHA:95494
HP:0001574	Abnormality of the integument	5449	POU1F1	ORPHA:95494
HP:0001574	Abnormality of the integument	8820	HESX1	ORPHA:95494
HP:0001574	Abnormality of the integument	5015	OTX2	ORPHA:95494
HP:0001574	Abnormality of the integument	6658	SOX3	ORPHA:90695
HP:0001574	Abnormality of the integument	9653	HS2ST1	OMIM:619194
HP:0001574	Abnormality of the integument	104	ADARB1	OMIM:618862
HP:0001574	Abnormality of the integument	8812	CCNK	OMIM:618147
HP:0001574	Abnormality of the integument	7360	UGP2	OMIM:618744
HP:0001574	Abnormality of the integument	3008	H1-4	OMIM:617537
HP:0001574	Abnormality of the integument	3703	STT3A	OMIM:619714
HP:0001574	Abnormality of the integument	79228	THOC6	ORPHA:363444
HP:0001574	Abnormality of the integument	79228	THOC6	OMIM:613680
HP:0001574	Abnormality of the integument	10525	HYOU1	OMIM:233600
HP:0001574	Abnormality of the integument	84679	SLC9A7	OMIM:301024
HP:0001574	Abnormality of the integument	55906	ZC4H2	OMIM:314580
HP:0001574	Abnormality of the integument	54872	PIGG	ORPHA:280
HP:0001574	Abnormality of the integument	7469	NELFA	ORPHA:280
HP:0001574	Abnormality of the integument	4212	MEIS2	OMIM:600987
HP:0001574	Abnormality of the integument	4858	NOVA2	OMIM:618859
HP:0001574	Abnormality of the integument	2245	FGD1	ORPHA:915
HP:0001574	Abnormality of the integument	26057	ANKRD17	OMIM:619504
HP:0001574	Abnormality of the integument	3720	JARID2	OMIM:620098
HP:0001574	Abnormality of the integument	54361	WNT4	ORPHA:247768
HP:0001574	Abnormality of the integument	129285	PPP1R21	OMIM:619383
HP:0001574	Abnormality of the integument	1371	CPOX	ORPHA:79273
HP:0001574	Abnormality of the integument	4927	NUP88	ORPHA:994
HP:0001574	Abnormality of the integument	7846	TUBA1A	ORPHA:994
HP:0001574	Abnormality of the integument	4654	MYOD1	ORPHA:994
HP:0001574	Abnormality of the integument	4593	MUSK	ORPHA:994
HP:0001574	Abnormality of the integument	5913	RAPSN	ORPHA:994
HP:0001574	Abnormality of the integument	6572	SLC18A3	ORPHA:994
HP:0001574	Abnormality of the integument	285489	DOK7	ORPHA:994
HP:0001574	Abnormality of the integument	91252	SLC39A13	ORPHA:157965
HP:0001574	Abnormality of the integument	259232	NALCN	ORPHA:2053
HP:0001574	Abnormality of the integument	92949	ADAMTSL1	ORPHA:521445
HP:0001574	Abnormality of the integument	7750	ZMYM2	OMIM:619522
HP:0001574	Abnormality of the integument	54820	NDE1	OMIM:605013
HP:0001574	Abnormality of the integument	286053	NSMCE2	OMIM:617253
HP:0001574	Abnormality of the integument	5727	PTCH1	ORPHA:77301
HP:0001574	Abnormality of the integument	5727	PTCH1	ORPHA:377
HP:0001574	Abnormality of the integument	5727	PTCH1	OMIM:109400
HP:0001574	Abnormality of the integument	8643	PTCH2	ORPHA:377
HP:0001574	Abnormality of the integument	51684	SUFU	ORPHA:377
HP:0001574	Abnormality of the integument	6473	SHOX	ORPHA:240
HP:0001574	Abnormality of the integument	150468	CKAP2L	ORPHA:3255
HP:0001574	Abnormality of the integument	4088	SMAD3	OMIM:613795
HP:0001574	Abnormality of the integument	7048	TGFBR2	OMIM:610168
HP:0001574	Abnormality of the integument	3376	IARS1	ORPHA:541423
HP:0001574	Abnormality of the integument	1105	CHD1	OMIM:617682
HP:0001574	Abnormality of the integument	1105	CHD1	ORPHA:529965
HP:0001574	Abnormality of the integument	9509	ADAMTS2	OMIM:225410
HP:0001574	Abnormality of the integument	1278	COL1A2	OMIM:619120
HP:0001574	Abnormality of the integument	7046	TGFBR1	OMIM:609192
HP:0001574	Abnormality of the integument	191	AHCY	ORPHA:88618
HP:0001574	Abnormality of the integument	26227	PHGDH	ORPHA:79351
HP:0001574	Abnormality of the integument	79583	TMEM231	ORPHA:2752
HP:0001574	Abnormality of the integument	10312	TCIRG1	ORPHA:667
HP:0001574	Abnormality of the integument	1186	CLCN7	ORPHA:667
HP:0001574	Abnormality of the integument	29887	SNX10	ORPHA:667
HP:0001574	Abnormality of the integument	8600	TNFSF11	ORPHA:667
HP:0001574	Abnormality of the integument	23426	GRIP1	ORPHA:2052
HP:0001574	Abnormality of the integument	158326	FREM1	ORPHA:2717
HP:0001574	Abnormality of the integument	10225	CD96	ORPHA:1308
HP:0001574	Abnormality of the integument	3248	HPGD	ORPHA:2796
HP:0001574	Abnormality of the integument	6578	SLCO2A1	ORPHA:2796
HP:0001574	Abnormality of the integument	6812	STXBP1	ORPHA:495818
HP:0001574	Abnormality of the integument	8450	CUL4B	ORPHA:85293
HP:0001574	Abnormality of the integument	8241	RBM10	ORPHA:2886
HP:0001574	Abnormality of the integument	5518	PPP2R1A	ORPHA:457284
HP:0001574	Abnormality of the integument	5518	PPP2R1A	OMIM:616362
HP:0001574	Abnormality of the integument	54840	APTX	ORPHA:1168
HP:0001574	Abnormality of the integument	471	ATIC	OMIM:608688
HP:0001574	Abnormality of the integument	2235	FECH	OMIM:177000
HP:0001574	Abnormality of the integument	2235	FECH	ORPHA:79278
HP:0001574	Abnormality of the integument	6336	SCN10A	ORPHA:90026
HP:0001574	Abnormality of the integument	56984	PSMG2	OMIM:619183
HP:0001574	Abnormality of the integument	2752	GLUL	OMIM:610015
HP:0001574	Abnormality of the integument	1174	AP1S1	OMIM:609313
HP:0001574	Abnormality of the integument	55739	NAXD	OMIM:618321
HP:0001574	Abnormality of the integument	26119	LDLRAP1	ORPHA:391665
HP:0001574	Abnormality of the integument	26119	LDLRAP1	OMIM:603813
HP:0001574	Abnormality of the integument	64240	ABCG5	ORPHA:391665
HP:0001574	Abnormality of the integument	64240	ABCG5	OMIM:618666
HP:0001574	Abnormality of the integument	1071	CETP	ORPHA:79506
HP:0001574	Abnormality of the integument	345	APOC3	ORPHA:79506
HP:0001574	Abnormality of the integument	3115	HLA-DPB1	ORPHA:133
HP:0001574	Abnormality of the integument	5551	PRF1	ORPHA:540
HP:0001574	Abnormality of the integument	8676	STX11	ORPHA:540
HP:0001574	Abnormality of the integument	201294	UNC13D	ORPHA:540
HP:0001574	Abnormality of the integument	6813	STXBP2	ORPHA:540
HP:0001574	Abnormality of the integument	54790	TET2	ORPHA:98850
HP:0001574	Abnormality of the integument	861	RUNX1	ORPHA:98850
HP:0001574	Abnormality of the integument	6427	SRSF2	ORPHA:98850
HP:0001574	Abnormality of the integument	210	ALAD	ORPHA:100924
HP:0001574	Abnormality of the integument	6792	CDKL5	ORPHA:3451
HP:0001574	Abnormality of the integument	221692	PHACTR1	ORPHA:3451
HP:0001574	Abnormality of the integument	6487	ST3GAL3	ORPHA:3451
HP:0001574	Abnormality of the integument	10695	CNPY3	ORPHA:3451
HP:0001574	Abnormality of the integument	23236	PLCB1	ORPHA:3451
HP:0001574	Abnormality of the integument	150094	SIK1	ORPHA:3451
HP:0001574	Abnormality of the integument	6709	SPTAN1	ORPHA:3451
HP:0001574	Abnormality of the integument	60558	GUF1	ORPHA:3451
HP:0001574	Abnormality of the integument	6326	SCN2A	ORPHA:3451
HP:0001574	Abnormality of the integument	11152	WDR45	ORPHA:3451
HP:0001574	Abnormality of the integument	2904	GRIN2B	ORPHA:3451
HP:0001574	Abnormality of the integument	4915	NTRK2	ORPHA:3451
HP:0001574	Abnormality of the integument	3145	HMBS	ORPHA:79276
HP:0001574	Abnormality of the integument	79053	ALG8	ORPHA:79325
HP:0001574	Abnormality of the integument	9663	LPIN2	OMIM:609628
HP:0001574	Abnormality of the integument	9663	LPIN2	ORPHA:77297
HP:0001574	Abnormality of the integument	10043	TOM1	ORPHA:391487
HP:0001574	Abnormality of the integument	37	ACADVL	ORPHA:26793
HP:0001574	Abnormality of the integument	7317	UBA1	OMIM:301054
HP:0001574	Abnormality of the integument	57104	PNPLA2	ORPHA:565612
HP:0001574	Abnormality of the integument	4689	NCF4	OMIM:613960
HP:0001574	Abnormality of the integument	90268	OTULIN	OMIM:619986
HP:0001574	Abnormality of the integument	5663	PSEN1	OMIM:613737
HP:0001574	Abnormality of the integument	5898	RALA	OMIM:619311
HP:0001574	Abnormality of the integument	93986	FOXP2	ORPHA:209908
HP:0001574	Abnormality of the integument	26173	INTS1	OMIM:618571
HP:0001574	Abnormality of the integument	29920	PYCR2	ORPHA:481152
HP:0001574	Abnormality of the integument	11235	PDCD10	ORPHA:221061
HP:0001574	Abnormality of the integument	889	KRIT1	ORPHA:221061
HP:0001574	Abnormality of the integument	55617	TASP1	OMIM:618950
HP:0001574	Abnormality of the integument	4313	MMP2	ORPHA:371428
HP:0001574	Abnormality of the integument	4323	MMP14	ORPHA:371428
HP:0001574	Abnormality of the integument	9630	GNA14	ORPHA:1063
HP:0001574	Abnormality of the integument	11146	GLMN	ORPHA:83454
HP:0001574	Abnormality of the integument	3423	IDS	ORPHA:217085
HP:0001574	Abnormality of the integument	3423	IDS	ORPHA:217093
HP:0001574	Abnormality of the integument	5498	PPOX	ORPHA:79473
HP:0001574	Abnormality of the integument	9935	MAFB	ORPHA:233
HP:0001574	Abnormality of the integument	1123	CHN1	ORPHA:233
HP:0001574	Abnormality of the integument	6418	SET	OMIM:618106
HP:0001574	Abnormality of the integument	5528	PPP2R5D	ORPHA:457279
HP:0001574	Abnormality of the integument	11198	SUPT16H	OMIM:619480
HP:0001574	Abnormality of the integument	5336	PLCG2	OMIM:614468
HP:0001574	Abnormality of the integument	3594	IL12RB1	ORPHA:186
HP:0001574	Abnormality of the integument	23534	TNPO3	ORPHA:186
HP:0001574	Abnormality of the integument	3592	IL12A	ORPHA:186
HP:0001574	Abnormality of the integument	6689	SPIB	ORPHA:186
HP:0001574	Abnormality of the integument	5450	POU2AF1	ORPHA:186
HP:0001574	Abnormality of the integument	9966	TNFSF15	ORPHA:186
HP:0001574	Abnormality of the integument	79258	MMEL1	ORPHA:186
HP:0001574	Abnormality of the integument	3663	IRF5	ORPHA:186
HP:0001574	Abnormality of the integument	710	SERPING1	ORPHA:100050
HP:0001574	Abnormality of the integument	30817	ADGRE2	OMIM:125630
HP:0001574	Abnormality of the integument	3872	KRT17	OMIM:184500
HP:0001574	Abnormality of the integument	3872	KRT17	OMIM:167210
HP:0001574	Abnormality of the integument	3872	KRT17	ORPHA:2309
HP:0001574	Abnormality of the integument	3872	KRT17	ORPHA:841
HP:0001574	Abnormality of the integument	3854	KRT6B	OMIM:615728
HP:0001574	Abnormality of the integument	3854	KRT6B	ORPHA:2309
HP:0001574	Abnormality of the integument	3853	KRT6A	ORPHA:2309
HP:0001574	Abnormality of the integument	1308	COL17A1	ORPHA:79406
HP:0001574	Abnormality of the integument	4312	MMP1	ORPHA:79408
HP:0001574	Abnormality of the integument	1294	COL7A1	ORPHA:79408
HP:0001574	Abnormality of the integument	1294	COL7A1	ORPHA:79409
HP:0001574	Abnormality of the integument	1294	COL7A1	ORPHA:79410
HP:0001574	Abnormality of the integument	1294	COL7A1	ORPHA:79411
HP:0001574	Abnormality of the integument	4893	NRAS	OMIM:137550
HP:0001574	Abnormality of the integument	4893	NRAS	ORPHA:626
HP:0001574	Abnormality of the integument	3265	HRAS	OMIM:137550
HP:0001574	Abnormality of the integument	3265	HRAS	ORPHA:2874
HP:0001574	Abnormality of the integument	7852	CXCR4	ORPHA:51636
HP:0001574	Abnormality of the integument	6794	STK11	OMIM:155600
HP:0001574	Abnormality of the integument	1029	CDKN2A	OMIM:155755
HP:0001574	Abnormality of the integument	1029	CDKN2A	OMIM:155601
HP:0001574	Abnormality of the integument	4286	MITF	OMIM:614456
HP:0001574	Abnormality of the integument	5429	POLH	OMIM:278750
HP:0001574	Abnormality of the integument	8314	BAP1	OMIM:614327
HP:0001574	Abnormality of the integument	2071	ERCC3	OMIM:610651
HP:0001574	Abnormality of the integument	4157	MC1R	ORPHA:626
HP:0001574	Abnormality of the integument	4157	MC1R	ORPHA:79432
HP:0001574	Abnormality of the integument	1019	CDK4	OMIM:609048
HP:0001574	Abnormality of the integument	4948	OCA2	ORPHA:79432
HP:0001574	Abnormality of the integument	7486	WRN	ORPHA:902
HP:0001574	Abnormality of the integument	64127	NOD2	OMIM:186580
HP:0001574	Abnormality of the integument	64127	NOD2	ORPHA:90340
HP:0001574	Abnormality of the integument	91662	NLRP12	OMIM:611762
HP:0001574	Abnormality of the integument	987	LRBA	OMIM:614700
HP:0001574	Abnormality of the integument	1280	COL2A1	ORPHA:85198
HP:0001574	Abnormality of the integument	4598	MVK	OMIM:610377
HP:0001574	Abnormality of the integument	2775	GNAO1	ORPHA:1934
HP:0001574	Abnormality of the integument	79751	SLC25A22	ORPHA:1934
HP:0001574	Abnormality of the integument	2917	GRM7	ORPHA:1934
HP:0001574	Abnormality of the integument	51227	PIGP	ORPHA:1934
HP:0001574	Abnormality of the integument	4761	NEUROD2	ORPHA:1934
HP:0001574	Abnormality of the integument	102	ADAM10	OMIM:615537
HP:0001574	Abnormality of the integument	4437	MSH3	ORPHA:480536
HP:0001574	Abnormality of the integument	10457	GPNMB	OMIM:617920
HP:0001574	Abnormality of the integument	23141	ANKLE2	OMIM:616681
HP:0001574	Abnormality of the integument	10625	IVNS1ABP	OMIM:618969
HP:0001574	Abnormality of the integument	3587	IL10RA	OMIM:613148
HP:0001574	Abnormality of the integument	3588	IL10RB	OMIM:612567
HP:0001574	Abnormality of the integument	3557	IL1RN	OMIM:612852
HP:0001574	Abnormality of the integument	5271	SERPINB8	OMIM:617115
HP:0001574	Abnormality of the integument	55252	ASXL2	OMIM:617190
HP:0001574	Abnormality of the integument	5290	PIK3CA	OMIM:612918
HP:0001574	Abnormality of the integument	2475	MTOR	ORPHA:457485
HP:0001574	Abnormality of the integument	2050	EPHB4	ORPHA:137667
HP:0001574	Abnormality of the integument	2050	EPHB4	OMIM:618196
HP:0001574	Abnormality of the integument	5921	RASA1	ORPHA:137667
HP:0001574	Abnormality of the integument	5921	RASA1	ORPHA:90307
HP:0001574	Abnormality of the integument	5921	RASA1	OMIM:608354
HP:0001574	Abnormality of the integument	440275	EIF2AK4	ORPHA:199241
HP:0001574	Abnormality of the integument	10617	STAMBP	OMIM:614261
HP:0001574	Abnormality of the integument	4851	NOTCH1	OMIM:616028
HP:0001574	Abnormality of the integument	242	ALOX12B	OMIM:242100
HP:0001574	Abnormality of the integument	59344	ALOXE3	OMIM:242100
HP:0001574	Abnormality of the integument	4014	LORICRIN	OMIM:604117
HP:0001574	Abnormality of the integument	4014	LORICRIN	ORPHA:79395
HP:0001574	Abnormality of the integument	204219	CERS3	OMIM:615023
HP:0001574	Abnormality of the integument	285848	PNPLA1	OMIM:615024
HP:0001574	Abnormality of the integument	2707	GJB3	OMIM:133200
HP:0001574	Abnormality of the integument	121214	SDR9C7	OMIM:617574
HP:0001574	Abnormality of the integument	2697	GJA1	OMIM:617525
HP:0001574	Abnormality of the integument	5167	ENPP1	OMIM:615522
HP:0001574	Abnormality of the integument	56983	POGLUT1	OMIM:615696
HP:0001574	Abnormality of the integument	79092	CARD14	OMIM:173200
HP:0001574	Abnormality of the integument	8710	SERPINB7	OMIM:615598
HP:0001574	Abnormality of the integument	3868	KRT16	ORPHA:2199
HP:0001574	Abnormality of the integument	3857	KRT9	ORPHA:2199
HP:0001574	Abnormality of the integument	3848	KRT1	ORPHA:2199
HP:0001574	Abnormality of the integument	488	ATP2A2	ORPHA:79151
HP:0001574	Abnormality of the integument	643418	LIPN	OMIM:613943
HP:0001574	Abnormality of the integument	1828	DSG1	OMIM:615508
HP:0001574	Abnormality of the integument	1828	DSG1	OMIM:148700
HP:0001574	Abnormality of the integument	80326	WNT10A	OMIM:257980
HP:0001574	Abnormality of the integument	79719	AAGAB	OMIM:148600
HP:0001574	Abnormality of the integument	79719	AAGAB	ORPHA:79501
HP:0001574	Abnormality of the integument	7373	COL14A1	ORPHA:79501
HP:0001574	Abnormality of the integument	64131	XYLT1	OMIM:264800
HP:0001574	Abnormality of the integument	64132	XYLT2	OMIM:264800
HP:0001574	Abnormality of the integument	368	ABCC6	OMIM:264800
HP:0001574	Abnormality of the integument	545	ATR	OMIM:614564
HP:0001574	Abnormality of the integument	7508	XPC	OMIM:278720
HP:0001574	Abnormality of the integument	340665	CYP26C1	ORPHA:398189
HP:0001574	Abnormality of the integument	4052	LTBP1	ORPHA:90349
HP:0001574	Abnormality of the integument	30008	EFEMP2	ORPHA:90349
HP:0001574	Abnormality of the integument	81839	VANGL1	OMIM:600145
HP:0001574	Abnormality of the integument	4488	MSX2	OMIM:168550
HP:0001574	Abnormality of the integument	23529	CLCF1	OMIM:610313
HP:0001574	Abnormality of the integument	55975	KLHL7	OMIM:617055
HP:0001574	Abnormality of the integument	7156	TOP3A	OMIM:618097
HP:0001574	Abnormality of the integument	2212	FCGR2A	OMIM:152700
HP:0001574	Abnormality of the integument	2213	FCGR2B	OMIM:152700
HP:0001574	Abnormality of the integument	1773	DNASE1	OMIM:152700
HP:0001574	Abnormality of the integument	843	CASP10	OMIM:603909
HP:0001574	Abnormality of the integument	23511	NUP188	OMIM:618804
HP:0001574	Abnormality of the integument	7994	KAT6A	OMIM:616268
HP:0001574	Abnormality of the integument	6477	SIAH1	OMIM:619314
HP:0001574	Abnormality of the integument	5566	PRKACA	OMIM:615830
HP:0001574	Abnormality of the integument	5566	PRKACA	ORPHA:189439
HP:0001574	Abnormality of the integument	79798	ARMC5	ORPHA:189427
HP:0001574	Abnormality of the integument	2778	GNAS	ORPHA:189427
HP:0001574	Abnormality of the integument	8622	PDE8B	ORPHA:189439
HP:0001574	Abnormality of the integument	5573	PRKAR1A	ORPHA:189439
HP:0001574	Abnormality of the integument	5573	PRKAR1A	ORPHA:1359
HP:0001574	Abnormality of the integument	50940	PDE11A	ORPHA:189439
HP:0001574	Abnormality of the integument	50940	PDE11A	ORPHA:1359
HP:0001574	Abnormality of the integument	7840	ALMS1	ORPHA:64
HP:0001574	Abnormality of the integument	84196	USP48	ORPHA:96253
HP:0001574	Abnormality of the integument	7157	TP53	ORPHA:96253
HP:0001574	Abnormality of the integument	9101	USP8	ORPHA:96253
HP:0001574	Abnormality of the integument	64072	CDH23	ORPHA:96253
HP:0001574	Abnormality of the integument	2908	NR3C1	ORPHA:96253
HP:0001574	Abnormality of the integument	673	BRAF	ORPHA:96253
HP:0001574	Abnormality of the integument	546	ATRX	ORPHA:96253
HP:0001574	Abnormality of the integument	93587	TRMT10A	ORPHA:391408
HP:0001574	Abnormality of the integument	93587	TRMT10A	OMIM:616033
HP:0001574	Abnormality of the integument	84919	PPP1R15B	ORPHA:391408
HP:0001574	Abnormality of the integument	3417	IDH1	ORPHA:99646
HP:0001574	Abnormality of the integument	84868	HAVCR2	ORPHA:86884
HP:0001574	Abnormality of the integument	9526	MPDU1	ORPHA:79323
HP:0001574	Abnormality of the integument	146206	CARMIL2	OMIM:618131
HP:0001574	Abnormality of the integument	23586	RIGI	OMIM:616298
HP:0001574	Abnormality of the integument	284	ANGPT1	OMIM:619361
HP:0001574	Abnormality of the integument	26509	MYOF	OMIM:619366
HP:0001574	Abnormality of the integument	4693	NDP	ORPHA:891
HP:0001574	Abnormality of the integument	1499	CTNNB1	ORPHA:891
HP:0001574	Abnormality of the integument	23554	TSPAN12	ORPHA:891
HP:0001574	Abnormality of the integument	4041	LRP5	ORPHA:891
HP:0001574	Abnormality of the integument	79797	ZNF408	ORPHA:891
HP:0001574	Abnormality of the integument	8322	FZD4	ORPHA:891
HP:0001574	Abnormality of the integument	3081	HGD	OMIM:203500
HP:0001574	Abnormality of the integument	8323	FZD6	OMIM:161050
HP:0001574	Abnormality of the integument	5205	ATP8B1	ORPHA:69665
HP:0001574	Abnormality of the integument	8647	ABCB11	ORPHA:69665
HP:0001574	Abnormality of the integument	5244	ABCB4	ORPHA:69665
HP:0001574	Abnormality of the integument	9971	NR1H4	ORPHA:69665
HP:0001574	Abnormality of the integument	2642	GCGR	ORPHA:438274
HP:0001574	Abnormality of the integument	3939	LDHA	ORPHA:284426
HP:0001574	Abnormality of the integument	54795	TRPM4	OMIM:618531
HP:0001574	Abnormality of the integument	4128	MAOA	OMIM:300615
HP:0001574	Abnormality of the integument	8131	NPRL3	ORPHA:98820
HP:0001574	Abnormality of the integument	10641	NPRL2	ORPHA:98820
HP:0001574	Abnormality of the integument	9681	DEPDC5	ORPHA:98820
HP:0001574	Abnormality of the integument	3172	HNF4A	OMIM:125850
HP:0001574	Abnormality of the integument	64788	LMF1	OMIM:246650
HP:0001574	Abnormality of the integument	219972	MPEG1	OMIM:619223
HP:0001574	Abnormality of the integument	3674	ITGA2B	OMIM:273800
HP:0001574	Abnormality of the integument	3674	ITGA2B	ORPHA:849
HP:0001574	Abnormality of the integument	3674	ITGA2B	ORPHA:853
HP:0001574	Abnormality of the integument	2811	GP1BA	OMIM:153670
HP:0001574	Abnormality of the integument	2811	GP1BA	ORPHA:853
HP:0001574	Abnormality of the integument	51119	SBDS	ORPHA:88
HP:0001574	Abnormality of the integument	51206	GP6	OMIM:614201
HP:0001574	Abnormality of the integument	6915	TBXA2R	OMIM:614009
HP:0001574	Abnormality of the integument	3690	ITGB3	ORPHA:849
HP:0001574	Abnormality of the integument	3690	ITGB3	ORPHA:853
HP:0001574	Abnormality of the integument	2147	F2	OMIM:613679
HP:0001574	Abnormality of the integument	811	CALR	ORPHA:824
HP:0001574	Abnormality of the integument	4352	MPL	ORPHA:824
HP:0001574	Abnormality of the integument	3717	JAK2	ORPHA:824
HP:0001574	Abnormality of the integument	64805	P2RY12	OMIM:609821
HP:0001574	Abnormality of the integument	5371	PML	ORPHA:520
HP:0001574	Abnormality of the integument	5914	RARA	ORPHA:520
HP:0001574	Abnormality of the integument	81608	FIP1L1	ORPHA:520
HP:0001574	Abnormality of the integument	64859	NABP1	ORPHA:520
HP:0001574	Abnormality of the integument	6777	STAT5B	ORPHA:520
HP:0001574	Abnormality of the integument	4926	NUMA1	ORPHA:520
HP:0001574	Abnormality of the integument	7704	ZBTB16	ORPHA:520
HP:0001574	Abnormality of the integument	79803	HPS6	OMIM:614075
HP:0001574	Abnormality of the integument	55340	GIMAP5	OMIM:619463
HP:0001574	Abnormality of the integument	2812	GP1BB	ORPHA:853
HP:0001574	Abnormality of the integument	3673	ITGA2	ORPHA:853
HP:0001574	Abnormality of the integument	135228	CD109	ORPHA:853
HP:0001574	Abnormality of the integument	8328	GFI1B	OMIM:187900
HP:0001574	Abnormality of the integument	4297	KMT2A	OMIM:605130
HP:0001574	Abnormality of the integument	3071	NCKAP1L	OMIM:618982
HP:0001574	Abnormality of the integument	399	RHOH	OMIM:618307
HP:0001574	Abnormality of the integument	920	CD4	OMIM:619238
HP:0001574	Abnormality of the integument	201163	FLCN	OMIM:135150
HP:0001574	Abnormality of the integument	9051	PSTPIP1	OMIM:604416
HP:0001574	Abnormality of the integument	4210	MEFV	OMIM:608068
HP:0001574	Abnormality of the integument	23590	PDSS1	OMIM:614651
HP:0001574	Abnormality of the integument	4629	MYH11	OMIM:132900
HP:0001574	Abnormality of the integument	59	ACTA2	OMIM:611788
HP:0001574	Abnormality of the integument	2982	GUCY1A1	OMIM:615750
HP:0001574	Abnormality of the integument	2312	FLG	OMIM:146700
HP:0001574	Abnormality of the integument	5426	POLE	OMIM:618336
HP:0001574	Abnormality of the integument	5426	POLE	OMIM:615139
HP:0001574	Abnormality of the integument	1642	DDB1	OMIM:619426
HP:0001574	Abnormality of the integument	171019	ADAMTS19	OMIM:620067
HP:0001574	Abnormality of the integument	6134	RPL10	OMIM:300998
HP:0001574	Abnormality of the integument	23325	WASHC4	OMIM:615817
HP:0001574	Abnormality of the integument	3860	KRT13	OMIM:615785
HP:0001574	Abnormality of the integument	7174	TPP2	OMIM:619220
HP:0001574	Abnormality of the integument	57169	ZNFX1	OMIM:619644
HP:0001574	Abnormality of the integument	23581	CASP14	OMIM:617320
HP:0001574	Abnormality of the integument	6857	SYT1	ORPHA:522077
HP:0001574	Abnormality of the integument	23483	TGDS	OMIM:616145
HP:0001574	Abnormality of the integument	773	CACNA1A	ORPHA:2131
HP:0001574	Abnormality of the integument	6507	SLC1A3	ORPHA:2131
HP:0001574	Abnormality of the integument	477	ATP1A2	ORPHA:2131
HP:0001574	Abnormality of the integument	478	ATP1A3	ORPHA:2131
HP:0001574	Abnormality of the integument	8318	CDC45	OMIM:617063
HP:0001574	Abnormality of the integument	10157	AASS	ORPHA:2203
HP:0001574	Abnormality of the integument	8925	HERC1	OMIM:617011
HP:0001574	Abnormality of the integument	8925	HERC1	ORPHA:457359
HP:0001574	Abnormality of the integument	116931	MED12L	OMIM:618872
HP:0001574	Abnormality of the integument	57520	HECW2	OMIM:617268
HP:0001574	Abnormality of the integument	9469	CHST3	ORPHA:263463
HP:0001574	Abnormality of the integument	9469	CHST3	OMIM:143095
HP:0001574	Abnormality of the integument	8550	MAPKAPK5	OMIM:619869
HP:0001574	Abnormality of the integument	55623	THUMPD1	OMIM:619989
HP:0001574	Abnormality of the integument	2571	GAD1	OMIM:619124
HP:0001574	Abnormality of the integument	7480	WNT10B	OMIM:617073
HP:0001574	Abnormality of the integument	153241	CEP120	OMIM:616300
HP:0001574	Abnormality of the integument	4781	NFIB	OMIM:618286
HP:0001574	Abnormality of the integument	51574	LARP7	ORPHA:319671
HP:0001574	Abnormality of the integument	2099	ESR1	ORPHA:785
HP:0001574	Abnormality of the integument	1410	CRYAB	OMIM:608810
HP:0001574	Abnormality of the integument	1188	CLCNKB	ORPHA:358
HP:0001574	Abnormality of the integument	6559	SLC12A3	ORPHA:358
HP:0001574	Abnormality of the integument	55699	IARS2	OMIM:616007
HP:0001574	Abnormality of the integument	1540	CYLD	ORPHA:867
HP:0001574	Abnormality of the integument	1540	CYLD	ORPHA:211
HP:0001574	Abnormality of the integument	1235	CCR6	ORPHA:220402
HP:0001574	Abnormality of the integument	1235	CCR6	ORPHA:220393
HP:0001574	Abnormality of the integument	79932	KIAA0319L	ORPHA:220402
HP:0001574	Abnormality of the integument	1490	CCN2	ORPHA:220402
HP:0001574	Abnormality of the integument	1490	CCN2	ORPHA:220393
HP:0001574	Abnormality of the integument	4668	NAGA	ORPHA:79280
HP:0001574	Abnormality of the integument	4668	NAGA	ORPHA:79279
HP:0001574	Abnormality of the integument	2717	GLA	ORPHA:324
HP:0001574	Abnormality of the integument	5424	POLD1	OMIM:615381
HP:0001574	Abnormality of the integument	5340	PLG	OMIM:619360
HP:0001574	Abnormality of the integument	64711	HS3ST6	OMIM:619367
HP:0001574	Abnormality of the integument	3827	KNG1	OMIM:619363
HP:0001574	Abnormality of the integument	1776	DNASE1L3	ORPHA:36412
HP:0001574	Abnormality of the integument	10466	COG5	ORPHA:263487
HP:0001574	Abnormality of the integument	51116	MRPS2	OMIM:617950
HP:0001574	Abnormality of the integument	1861	TOR1A	OMIM:618947
HP:0001574	Abnormality of the integument	9180	OSMR	OMIM:105250
HP:0001574	Abnormality of the integument	3930	LBR	ORPHA:779
HP:0001574	Abnormality of the integument	6786	STIM1	OMIM:612783
HP:0001574	Abnormality of the integument	3569	IL6	OMIM:148000
HP:0001574	Abnormality of the integument	7293	TNFRSF4	OMIM:615593
HP:0001574	Abnormality of the integument	3849	KRT2	ORPHA:455
HP:0001574	Abnormality of the integument	10320	IKZF1	ORPHA:36426
HP:0001574	Abnormality of the integument	831	CAST	OMIM:616295
HP:0001574	Abnormality of the integument	27032	ATP2C1	ORPHA:2841
HP:0001574	Abnormality of the integument	727857	BHLHA9	OMIM:607539
HP:0001574	Abnormality of the integument	6872	TAF1	OMIM:300966
HP:0001574	Abnormality of the integument	85358	SHANK3	OMIM:606232
HP:0001574	Abnormality of the integument	2324	FLT4	ORPHA:79452
HP:0001574	Abnormality of the integument	57165	GJC2	ORPHA:79452
HP:0001574	Abnormality of the integument	7424	VEGFC	OMIM:615907
HP:0001574	Abnormality of the integument	4038	LRP4	ORPHA:3152
HP:0001574	Abnormality of the integument	50964	SOST	ORPHA:3152
HP:0001574	Abnormality of the integument	3590	IL11RA	OMIM:614188
HP:0001574	Abnormality of the integument	3074	HEXB	ORPHA:309155
HP:0001574	Abnormality of the integument	83480	PUS3	ORPHA:488627
HP:0001574	Abnormality of the integument	3937	LCP2	OMIM:619374
HP:0001574	Abnormality of the integument	5396	PRRX1	ORPHA:990
HP:0001574	Abnormality of the integument	3039	HBA1	ORPHA:98791
HP:0001574	Abnormality of the integument	3040	HBA2	ORPHA:98791
HP:0001574	Abnormality of the integument	2859	GPR35	ORPHA:171
HP:0001574	Abnormality of the integument	10507	SEMA4D	ORPHA:171
HP:0001574	Abnormality of the integument	4485	MST1	ORPHA:171
HP:0001574	Abnormality of the integument	55154	MSTO1	OMIM:617675
HP:0001574	Abnormality of the integument	55154	MSTO1	ORPHA:502423
HP:0001574	Abnormality of the integument	4750	NEK1	ORPHA:2751
HP:0001574	Abnormality of the integument	137682	NDUFAF6	OMIM:618239
HP:0001574	Abnormality of the integument	7253	TSHR	OMIM:609152
HP:0001574	Abnormality of the integument	10095	ARPC1B	OMIM:617718
HP:0001574	Abnormality of the integument	5657	PRTN3	ORPHA:900
HP:0001574	Abnormality of the integument	3113	HLA-DPA1	ORPHA:900
HP:0001574	Abnormality of the integument	596	BCL2	ORPHA:545
HP:0001574	Abnormality of the integument	3492	IGH	ORPHA:545
HP:0001574	Abnormality of the integument	604	BCL6	ORPHA:545
HP:0001574	Abnormality of the integument	128240	NAXE	OMIM:617186
HP:0001574	Abnormality of the integument	6890	TAP1	OMIM:604571
HP:0001574	Abnormality of the integument	6891	TAP2	OMIM:604571
HP:0001574	Abnormality of the integument	6892	TAPBP	OMIM:604571
HP:0001574	Abnormality of the integument	2038	EPB42	ORPHA:822
HP:0001574	Abnormality of the integument	2632	GBE1	ORPHA:206583
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231214
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231222
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231226
HP:0001574	Abnormality of the integument	204	AK2	ORPHA:33355
HP:0001574	Abnormality of the integument	8547	FCN3	OMIM:613860
HP:0001574	Abnormality of the integument	2624	GATA2	OMIM:614038
HP:0001574	Abnormality of the integument	6789	STK4	OMIM:614868
HP:0001574	Abnormality of the integument	29968	PSAT1	ORPHA:284417
HP:0001574	Abnormality of the integument	29968	PSAT1	OMIM:610992
HP:0001574	Abnormality of the integument	2554	GABRA1	ORPHA:33069
HP:0001574	Abnormality of the integument	6324	SCN1B	ORPHA:33069
HP:0001574	Abnormality of the integument	57526	PCDH19	ORPHA:33069
HP:0001574	Abnormality of the integument	2566	GABRG2	ORPHA:33069
HP:0001574	Abnormality of the integument	1830	DSG3	OMIM:619226
HP:0001574	Abnormality of the integument	6144	RPL21	OMIM:615885
HP:0001574	Abnormality of the integument	8289	ARID1A	OMIM:614607
HP:0001574	Abnormality of the integument	5281	PIGF	OMIM:619356
HP:0000712	Emotional lability	8518	ELP1	OMIM:223900
HP:0000712	Emotional lability	5621	PRNP	ORPHA:282166
HP:0000712	Emotional lability	5621	PRNP	ORPHA:280397
HP:0000712	Emotional lability	5621	PRNP	OMIM:137440
HP:0000712	Emotional lability	23111	SPART	OMIM:275900
HP:0000712	Emotional lability	23111	SPART	ORPHA:101000
HP:0000712	Emotional lability	8450	CUL4B	OMIM:300354
HP:0000712	Emotional lability	23314	SATB2	ORPHA:251028
HP:0000712	Emotional lability	2778	GNAS	OMIM:219080
HP:0000712	Emotional lability	2778	GNAS	ORPHA:189427
HP:0000712	Emotional lability	2767	GNA11	ORPHA:428
HP:0000712	Emotional lability	846	CASR	ORPHA:428
HP:0000712	Emotional lability	5428	POLG	OMIM:258450
HP:0000712	Emotional lability	5428	POLG	OMIM:607459
HP:0000712	Emotional lability	478	ATP1A3	OMIM:128235
HP:0000712	Emotional lability	478	ATP1A3	ORPHA:71517
HP:0000712	Emotional lability	478	ATP1A3	ORPHA:2131
HP:0000712	Emotional lability	55630	SLC39A4	ORPHA:37
HP:0000712	Emotional lability	55630	SLC39A4	OMIM:201100
HP:0000712	Emotional lability	2581	GALC	ORPHA:206443
HP:0000712	Emotional lability	1387	CREBBP	ORPHA:353281
HP:0000712	Emotional lability	1387	CREBBP	ORPHA:353277
HP:0000712	Emotional lability	8722	CTSF	OMIM:615362
HP:0000712	Emotional lability	23043	TNIK	OMIM:617028
HP:0000712	Emotional lability	50940	PDE11A	OMIM:610475
HP:0000712	Emotional lability	50940	PDE11A	ORPHA:189439
HP:0000712	Emotional lability	2033	EP300	ORPHA:353284
HP:0000712	Emotional lability	1644	DDC	OMIM:608643
HP:0000712	Emotional lability	410	ARSA	ORPHA:309271
HP:0000712	Emotional lability	410	ARSA	ORPHA:309263
HP:0000712	Emotional lability	410	ARSA	ORPHA:309256
HP:0000712	Emotional lability	410	ARSA	OMIM:250100
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309271
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309263
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309256
HP:0000712	Emotional lability	84196	USP48	ORPHA:96253
HP:0000712	Emotional lability	7157	TP53	ORPHA:96253
HP:0000712	Emotional lability	9101	USP8	ORPHA:96253
HP:0000712	Emotional lability	9101	USP8	OMIM:219090
HP:0000712	Emotional lability	64072	CDH23	ORPHA:96253
HP:0000712	Emotional lability	2908	NR3C1	ORPHA:96253
HP:0000712	Emotional lability	673	BRAF	ORPHA:96253
HP:0000712	Emotional lability	546	ATRX	ORPHA:96253
HP:0000712	Emotional lability	4204	MECP2	OMIM:300055
HP:0000712	Emotional lability	1757	SARDH	ORPHA:3129
HP:0000712	Emotional lability	340024	SLC6A19	OMIM:234500
HP:0000712	Emotional lability	340024	SLC6A19	ORPHA:2116
HP:0000712	Emotional lability	10381	TUBB3	ORPHA:300570
HP:0000712	Emotional lability	3953	LEPR	OMIM:614963
HP:0000712	Emotional lability	3953	LEPR	ORPHA:179494
HP:0000712	Emotional lability	5573	PRKAR1A	OMIM:610489
HP:0000712	Emotional lability	5573	PRKAR1A	ORPHA:189439
HP:0000712	Emotional lability	10015	PDCD6IP	OMIM:620047
HP:0000712	Emotional lability	8398	PLA2G6	ORPHA:35069
HP:0000712	Emotional lability	8398	PLA2G6	OMIM:610217
HP:0000712	Emotional lability	2898	GRIK2	OMIM:619580
HP:0000712	Emotional lability	55149	MTPAP	ORPHA:254343
HP:0000712	Emotional lability	55149	MTPAP	OMIM:613672
HP:0000712	Emotional lability	5718	PSMD12	ORPHA:529962
HP:0000712	Emotional lability	2186	BPTF	ORPHA:529962
HP:0000712	Emotional lability	83636	C19orf12	OMIM:614298
HP:0000712	Emotional lability	6999	TDO2	OMIM:600627
HP:0000712	Emotional lability	80208	SPG11	ORPHA:2822
HP:0000712	Emotional lability	23230	VPS13A	ORPHA:2388
HP:0000712	Emotional lability	23230	VPS13A	OMIM:200150
HP:0000712	Emotional lability	4914	NTRK1	OMIM:256800
HP:0000712	Emotional lability	9049	AIP	OMIM:219090
HP:0000712	Emotional lability	2903	GRIN2A	ORPHA:98818
HP:0000712	Emotional lability	2903	GRIN2A	ORPHA:1945
HP:0000712	Emotional lability	10522	DEAF1	OMIM:615828
HP:0000712	Emotional lability	10522	DEAF1	OMIM:617171
HP:0000712	Emotional lability	10522	DEAF1	ORPHA:468620
HP:0000712	Emotional lability	5654	HTRA1	ORPHA:199354
HP:0000712	Emotional lability	2512	FTL	OMIM:606159
HP:0000712	Emotional lability	2512	FTL	ORPHA:157846
HP:0000712	Emotional lability	7809	BSND	ORPHA:89938
HP:0000712	Emotional lability	1188	CLCNKB	ORPHA:89938
HP:0000712	Emotional lability	1187	CLCNKA	ORPHA:89938
HP:0000712	Emotional lability	388662	SLC6A17	ORPHA:457212
HP:0000712	Emotional lability	388662	SLC6A17	OMIM:616269
HP:0000712	Emotional lability	6711	SPTBN1	OMIM:619475
HP:0000712	Emotional lability	5566	PRKACA	OMIM:615830
HP:0000712	Emotional lability	5566	PRKACA	ORPHA:189439
HP:0000712	Emotional lability	7415	VCP	ORPHA:435387
HP:0000712	Emotional lability	7415	VCP	ORPHA:803
HP:0000712	Emotional lability	8622	PDE8B	ORPHA:189439
HP:0000712	Emotional lability	9968	MED12	OMIM:309520
HP:0000712	Emotional lability	8314	BAP1	ORPHA:2495
HP:0000712	Emotional lability	4771	NF2	ORPHA:2495
HP:0000712	Emotional lability	6598	SMARCB1	ORPHA:2495
HP:0000712	Emotional lability	5155	PDGFB	ORPHA:2495
HP:0000712	Emotional lability	84231	TRAF7	ORPHA:2495
HP:0000712	Emotional lability	6608	SMO	ORPHA:2495
HP:0000712	Emotional lability	207	AKT1	ORPHA:2495
HP:0000712	Emotional lability	5290	PIK3CA	ORPHA:2495
HP:0000712	Emotional lability	7015	TERT	ORPHA:2495
HP:0000712	Emotional lability	51684	SUFU	ORPHA:2495
HP:0000712	Emotional lability	6605	SMARCE1	ORPHA:2495
HP:0000712	Emotional lability	773	CACNA1A	ORPHA:2131
HP:0000712	Emotional lability	6507	SLC1A3	ORPHA:2131
HP:0000712	Emotional lability	477	ATP1A2	ORPHA:2131
HP:0000712	Emotional lability	378884	NHLRC1	ORPHA:501
HP:0000712	Emotional lability	7957	EPM2A	ORPHA:501
HP:0000712	Emotional lability	23503	ZFYVE26	OMIM:270700
HP:0000712	Emotional lability	81887	LAS1L	ORPHA:3459
HP:0000712	Emotional lability	81887	LAS1L	OMIM:309585
HP:0000712	Emotional lability	55869	HDAC8	ORPHA:3459
HP:0000712	Emotional lability	79798	ARMC5	ORPHA:189427
HP:0000712	Emotional lability	9993	DGCR2	OMIM:192430
HP:0000712	Emotional lability	8220	ESS2	OMIM:192430
HP:0000712	Emotional lability	8214	DGCR6	OMIM:192430
HP:0000712	Emotional lability	54487	DGCR8	OMIM:192430
HP:0000712	Emotional lability	6899	TBX1	OMIM:192430
HP:0000712	Emotional lability	617	BCS1L	OMIM:124000
HP:0000712	Emotional lability	407975	MIR17HG	ORPHA:391646
HP:0000712	Emotional lability	6389	SDHA	ORPHA:255241
HP:0000712	Emotional lability	80704	SLC19A3	ORPHA:255241
HP:0000712	Emotional lability	91942	NDUFAF2	ORPHA:255241
HP:0000712	Emotional lability	6834	SURF1	ORPHA:255241
HP:0000712	Emotional lability	4723	NDUFV1	ORPHA:255241
HP:0000712	Emotional lability	55572	FOXRED1	ORPHA:255241
HP:0000712	Emotional lability	4729	NDUFV2	ORPHA:255241
HP:0000712	Emotional lability	55967	NDUFA12	ORPHA:255241
HP:0000712	Emotional lability	51204	TACO1	ORPHA:255241
HP:0000712	Emotional lability	4720	NDUFS2	ORPHA:255241
HP:0000712	Emotional lability	4724	NDUFS4	ORPHA:255241
HP:0000712	Emotional lability	4728	NDUFS8	ORPHA:255241
HP:0000712	Emotional lability	137682	NDUFAF6	ORPHA:255241
HP:0000712	Emotional lability	4722	NDUFS3	ORPHA:255241
HP:0000712	Emotional lability	79133	NDUFAF5	ORPHA:255241
HP:0000712	Emotional lability	5160	PDHA1	ORPHA:255241
HP:0000712	Emotional lability	100131801	PET100	ORPHA:255241
HP:0000712	Emotional lability	1355	COX15	ORPHA:255241
HP:0000712	Emotional lability	1892	ECHS1	ORPHA:255241
HP:0000712	Emotional lability	123263	MTFMT	ORPHA:255241
HP:0000712	Emotional lability	51079	NDUFA13	ORPHA:255241
HP:0000712	Emotional lability	374291	NDUFS7	ORPHA:255241
HP:0000712	Emotional lability	4705	NDUFA10	ORPHA:255241
HP:0000712	Emotional lability	51601	LIPT1	ORPHA:255241
HP:0000712	Emotional lability	4719	NDUFS1	ORPHA:255241
HP:0000712	Emotional lability	4695	NDUFA2	ORPHA:255241
HP:0000712	Emotional lability	4697	NDUFA4	ORPHA:255241
HP:0000712	Emotional lability	4704	NDUFA9	ORPHA:255241
HP:0000712	Emotional lability	4854	NOTCH3	ORPHA:136
HP:0000712	Emotional lability	80025	PANK2	ORPHA:216873
HP:0000712	Emotional lability	23162	MAPK8IP3	OMIM:618443
HP:0000712	Emotional lability	54941	RNF125	OMIM:616260
HP:0000712	Emotional lability	5230	PGK1	OMIM:300653
HP:0000712	Emotional lability	57393	CLTRN	ORPHA:2116
HP:0000712	Emotional lability	727676	SNORD118	ORPHA:542310
HP:0000712	Emotional lability	23435	TARDBP	OMIM:612069
HP:0000712	Emotional lability	23435	TARDBP	ORPHA:803
HP:0000712	Emotional lability	162417	NAGS	ORPHA:927
HP:0000712	Emotional lability	25978	CHMP2B	ORPHA:803
HP:0000712	Emotional lability	3178	HNRNPA1	ORPHA:803
HP:0000712	Emotional lability	8148	TAF15	ORPHA:803
HP:0000712	Emotional lability	5445	PON2	ORPHA:803
HP:0000712	Emotional lability	9217	VAPB	ORPHA:803
HP:0000712	Emotional lability	8878	SQSTM1	ORPHA:803
HP:0000712	Emotional lability	5630	PRPH	ORPHA:803
HP:0000712	Emotional lability	29110	TBK1	ORPHA:803
HP:0000712	Emotional lability	55830	GLT8D1	ORPHA:803
HP:0000712	Emotional lability	755	CFAP410	ORPHA:803
HP:0000712	Emotional lability	10891	PPARGC1A	ORPHA:803
HP:0000712	Emotional lability	6647	SOD1	ORPHA:803
HP:0000712	Emotional lability	10133	OPTN	ORPHA:803
HP:0000712	Emotional lability	1639	DCTN1	ORPHA:803
HP:0000712	Emotional lability	9896	FIG4	ORPHA:803
HP:0000712	Emotional lability	5444	PON1	ORPHA:803
HP:0000712	Emotional lability	5446	PON3	ORPHA:803
HP:0000712	Emotional lability	4744	NEFH	ORPHA:803
HP:0000712	Emotional lability	5216	PFN1	ORPHA:803
HP:0000712	Emotional lability	9782	MATR3	ORPHA:803
HP:0000712	Emotional lability	54209	TREM2	ORPHA:803
HP:0000712	Emotional lability	283	ANG	ORPHA:803
HP:0000712	Emotional lability	29978	UBQLN2	ORPHA:803
HP:0000712	Emotional lability	2733	GLE1	ORPHA:803
HP:0000712	Emotional lability	2521	FUS	ORPHA:803
HP:0000712	Emotional lability	4750	NEK1	ORPHA:803
HP:0000712	Emotional lability	2043	EPHA4	ORPHA:803
HP:0000712	Emotional lability	6311	ATXN2	ORPHA:803
HP:0000712	Emotional lability	1610	DAO	ORPHA:803
HP:0000712	Emotional lability	2066	ERBB4	ORPHA:803
HP:0000712	Emotional lability	311	ANXA11	ORPHA:803
HP:0000712	Emotional lability	23025	UNC13A	ORPHA:803
HP:0000712	Emotional lability	899	CCNF	ORPHA:803
HP:0000712	Emotional lability	400916	CHCHD10	ORPHA:803
HP:0000712	Emotional lability	27286	SRPX2	ORPHA:1945
HP:0000712	Emotional lability	2566	GABRG2	ORPHA:1945
HP:0000712	Emotional lability	1967	EIF2B1	OMIM:603896
HP:0000712	Emotional lability	56652	TWNK	OMIM:607459
HP:0000712	Emotional lability	80199	FUZ	ORPHA:1136
HP:0000712	Emotional lability	2328	FMO3	ORPHA:468726
HP:0000712	Emotional lability	2583	B4GALNT1	OMIM:609195
HP:0000712	Emotional lability	165918	RNF168	ORPHA:420741
HP:0000712	Emotional lability	3119	HLA-DQB1	OMIM:126200
HP:0000712	Emotional lability	5133	PDCD1	OMIM:126200
HP:0000712	Emotional lability	3123	HLA-DRB1	OMIM:126200
HP:0003118	Increased circulating cortisol level	84733	CBX2	OMIM:613080
HP:0003118	Increased circulating cortisol level	4221	MEN1	ORPHA:652
HP:0003118	Increased circulating cortisol level	4221	MEN1	OMIM:131100
HP:0003118	Increased circulating cortisol level	1027	CDKN1B	ORPHA:652
HP:0003118	Increased circulating cortisol level	1027	CDKN1B	ORPHA:276152
HP:0003118	Increased circulating cortisol level	1026	CDKN1A	ORPHA:652
HP:0003118	Increased circulating cortisol level	1030	CDKN2B	ORPHA:652
HP:0003118	Increased circulating cortisol level	1031	CDKN2C	ORPHA:652
HP:0003118	Increased circulating cortisol level	84196	USP48	ORPHA:96253
HP:0003118	Increased circulating cortisol level	9101	USP8	ORPHA:96253
HP:0003118	Increased circulating cortisol level	64072	CDH23	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2908	NR3C1	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2908	NR3C1	ORPHA:786
HP:0003118	Increased circulating cortisol level	2908	NR3C1	OMIM:615962
HP:0003118	Increased circulating cortisol level	673	BRAF	ORPHA:96253
HP:0003118	Increased circulating cortisol level	546	ATRX	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2778	GNAS	OMIM:174800
HP:0003118	Increased circulating cortisol level	2778	GNAS	OMIM:219080
HP:0003118	Increased circulating cortisol level	2778	GNAS	ORPHA:562
HP:0003118	Increased circulating cortisol level	2778	GNAS	ORPHA:189427
HP:0003118	Increased circulating cortisol level	5566	PRKACA	OMIM:615830
HP:0003118	Increased circulating cortisol level	5566	PRKACA	ORPHA:189439
HP:0003118	Increased circulating cortisol level	8622	PDE8B	ORPHA:189439
HP:0003118	Increased circulating cortisol level	8622	PDE8B	OMIM:614190
HP:0003118	Increased circulating cortisol level	50940	PDE11A	ORPHA:189439
HP:0003118	Increased circulating cortisol level	50940	PDE11A	OMIM:610475
HP:0003118	Increased circulating cortisol level	50940	PDE11A	ORPHA:1359
HP:0003118	Increased circulating cortisol level	79798	ARMC5	OMIM:615954
HP:0003118	Increased circulating cortisol level	79798	ARMC5	ORPHA:189427
HP:0003118	Increased circulating cortisol level	3767	KCNJ11	ORPHA:79644
HP:0003118	Increased circulating cortisol level	5979	RET	OMIM:171400
HP:0003118	Increased circulating cortisol level	3350	HTR1A	OMIM:614674
HP:0003118	Increased circulating cortisol level	326	AIRE	ORPHA:3453
HP:0003118	Increased circulating cortisol level	5447	POR	OMIM:201750
HP:0003118	Increased circulating cortisol level	1585	CYP11B2	ORPHA:556030
HP:0003118	Increased circulating cortisol level	1584	CYP11B1	OMIM:202010
HP:0003118	Increased circulating cortisol level	84133	ZNRF3	ORPHA:1501
HP:0003118	Increased circulating cortisol level	7157	TP53	ORPHA:1501
HP:0003118	Increased circulating cortisol level	5573	PRKAR1A	ORPHA:1501
HP:0003118	Increased circulating cortisol level	1499	CTNNB1	ORPHA:1501
HP:0003118	Increased circulating cortisol level	1029	CDKN2A	ORPHA:1501
HP:0003118	Increased circulating cortisol level	7015	TERT	ORPHA:1501
HP:0001579	Primary hypercortisolism	5566	PRKACA	OMIM:615830
HP:0001579	Primary hypercortisolism	2778	GNAS	ORPHA:562
HP:0001579	Primary hypercortisolism	2778	GNAS	OMIM:219080
HP:0001579	Primary hypercortisolism	4221	MEN1	ORPHA:652
HP:0001579	Primary hypercortisolism	1027	CDKN1B	ORPHA:652
HP:0001579	Primary hypercortisolism	1026	CDKN1A	ORPHA:652
HP:0001579	Primary hypercortisolism	1030	CDKN2B	ORPHA:652
HP:0001579	Primary hypercortisolism	1031	CDKN2C	ORPHA:652
HP:0001579	Primary hypercortisolism	50940	PDE11A	OMIM:610475
HP:0001579	Primary hypercortisolism	84733	CBX2	OMIM:613080
HP:0001579	Primary hypercortisolism	5573	PRKAR1A	OMIM:610489
HP:0008738	Partially duplicated kidney	2811	GP1BA	ORPHA:274
HP:0008738	Partially duplicated kidney	2812	GP1BB	ORPHA:274
HP:0008738	Partially duplicated kidney	2815	GP9	ORPHA:274
HP:0000800	Cystic renal dysplasia	80114	BICC1	OMIM:601331
HP:0000800	Cystic renal dysplasia	57465	TBC1D24	OMIM:220500
HP:0000800	Cystic renal dysplasia	54903	MKS1	OMIM:249000
HP:0000800	Cystic renal dysplasia	83700	JAM3	OMIM:613730
HP:0000800	Cystic renal dysplasia	166379	BBS12	OMIM:615989
HP:0000800	Cystic renal dysplasia	284086	NEK8	OMIM:615415
HP:0000800	Cystic renal dysplasia	1376	CPT2	ORPHA:228308
HP:0000800	Cystic renal dysplasia	168667	BMPER	OMIM:608022
HP:0008739	Labial pseudohypertrophy	4000	LMNA	OMIM:151660
HP:0000813	Bicornuate uterus	2294	FOXF1	OMIM:265380
HP:0000813	Bicornuate uterus	7490	WT1	OMIM:608978
HP:0000813	Bicornuate uterus	341640	FREM2	ORPHA:2052
HP:0000813	Bicornuate uterus	80144	FRAS1	ORPHA:2052
HP:0000813	Bicornuate uterus	80144	FRAS1	OMIM:219000
HP:0000813	Bicornuate uterus	23426	GRIP1	ORPHA:2052
HP:0000813	Bicornuate uterus	10262	SF3B4	OMIM:154400
HP:0000813	Bicornuate uterus	6928	HNF1B	OMIM:137920
HP:0000813	Bicornuate uterus	6928	HNF1B	ORPHA:93111
HP:0000813	Bicornuate uterus	92002	CCNQ	OMIM:300707
HP:0000813	Bicornuate uterus	92002	CCNQ	ORPHA:140952
HP:0000813	Bicornuate uterus	23556	PIGN	ORPHA:2059
HP:0000813	Bicornuate uterus	3110	MNX1	OMIM:176450
HP:0000813	Bicornuate uterus	672	BRCA1	ORPHA:84
HP:0000813	Bicornuate uterus	10459	MAD2L2	ORPHA:84
HP:0000813	Bicornuate uterus	7516	XRCC2	ORPHA:84
HP:0000813	Bicornuate uterus	29089	UBE2T	ORPHA:84
HP:0000813	Bicornuate uterus	675	BRCA2	ORPHA:84
HP:0000813	Bicornuate uterus	55120	FANCL	ORPHA:84
HP:0000813	Bicornuate uterus	2177	FANCD2	ORPHA:84
HP:0000813	Bicornuate uterus	2175	FANCA	ORPHA:84
HP:0000813	Bicornuate uterus	2187	FANCB	ORPHA:84
HP:0000813	Bicornuate uterus	2176	FANCC	ORPHA:84
HP:0000813	Bicornuate uterus	2178	FANCE	ORPHA:84
HP:0000813	Bicornuate uterus	2188	FANCF	ORPHA:84
HP:0000813	Bicornuate uterus	2189	FANCG	ORPHA:84
HP:0000813	Bicornuate uterus	5888	RAD51	ORPHA:84
HP:0000813	Bicornuate uterus	5889	RAD51C	ORPHA:84
HP:0000813	Bicornuate uterus	55159	RFWD3	ORPHA:84
HP:0000813	Bicornuate uterus	83990	BRIP1	ORPHA:84
HP:0000813	Bicornuate uterus	57697	FANCM	ORPHA:84
HP:0000813	Bicornuate uterus	79728	PALB2	ORPHA:84
HP:0000813	Bicornuate uterus	84464	SLX4	ORPHA:84
HP:0000813	Bicornuate uterus	2072	ERCC4	ORPHA:84
HP:0000813	Bicornuate uterus	55215	FANCI	ORPHA:84
HP:0000813	Bicornuate uterus	6736	SRY	OMIM:400045
HP:0000813	Bicornuate uterus	64220	STRA6	OMIM:601186
HP:0000813	Bicornuate uterus	3209	HOXA13	ORPHA:2438
HP:0000813	Bicornuate uterus	157570	ESCO2	OMIM:268300
HP:0000813	Bicornuate uterus	4036	LRP2	OMIM:222448
HP:0000813	Bicornuate uterus	4036	LRP2	ORPHA:2143
HP:0000813	Bicornuate uterus	1717	DHCR7	OMIM:270400
HP:0000813	Bicornuate uterus	79796	ALG9	ORPHA:79328
HP:0000813	Bicornuate uterus	79796	ALG9	OMIM:263210
HP:0000813	Bicornuate uterus	7148	TNXB	OMIM:606408
HP:0000813	Bicornuate uterus	6926	TBX3	OMIM:181450
HP:0000813	Bicornuate uterus	8516	ITGA8	OMIM:191830
HP:0000813	Bicornuate uterus	54101	RIPK4	OMIM:263650
HP:0000813	Bicornuate uterus	4281	MID1	ORPHA:2745
HP:0000813	Bicornuate uterus	23395	LARS2	OMIM:615300
HP:0000813	Bicornuate uterus	23384	SPECC1L	OMIM:145420
HP:0000813	Bicornuate uterus	5915	RARB	OMIM:615524
HP:0000813	Bicornuate uterus	2263	FGFR2	ORPHA:2363
HP:0000813	Bicornuate uterus	2261	FGFR3	ORPHA:2363
HP:0000813	Bicornuate uterus	2255	FGF10	ORPHA:2363
HP:0000813	Bicornuate uterus	26040	SETBP1	OMIM:269150
HP:0011799	Abnormality of facial soft tissue	9780	PIEZO1	OMIM:616843
HP:0011799	Abnormality of facial soft tissue	5626	PROP1	ORPHA:226307
HP:0011799	Abnormality of facial soft tissue	89884	LHX4	ORPHA:226307
HP:0011799	Abnormality of facial soft tissue	8022	LHX3	ORPHA:226307
HP:0011799	Abnormality of facial soft tissue	5449	POU1F1	ORPHA:226307
HP:0011799	Abnormality of facial soft tissue	8820	HESX1	ORPHA:226307
HP:0011799	Abnormality of facial soft tissue	405753	DUOXA2	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	6528	SLC5A5	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	7038	TG	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	7173	TPO	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	389434	IYD	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	50506	DUOX2	ORPHA:95716
HP:0011799	Abnormality of facial soft tissue	9401	RECQL4	ORPHA:221016
HP:0011799	Abnormality of facial soft tissue	2050	EPHB4	ORPHA:90186
HP:0011799	Abnormality of facial soft tissue	2050	EPHB4	OMIM:617300
HP:0011799	Abnormality of facial soft tissue	4758	NEU1	OMIM:256550
HP:0011799	Abnormality of facial soft tissue	7512	XPNPEP2	ORPHA:100057
HP:0011799	Abnormality of facial soft tissue	5340	PLG	OMIM:619360
HP:0011799	Abnormality of facial soft tissue	284	ANGPT1	OMIM:619361
HP:0011799	Abnormality of facial soft tissue	213	ALB	ORPHA:86816
HP:0011799	Abnormality of facial soft tissue	84868	HAVCR2	OMIM:618398
HP:0011799	Abnormality of facial soft tissue	26509	MYOF	OMIM:619366
HP:0011799	Abnormality of facial soft tissue	64711	HS3ST6	OMIM:619367
HP:0011799	Abnormality of facial soft tissue	3827	KNG1	OMIM:619363
HP:0011799	Abnormality of facial soft tissue	710	SERPING1	ORPHA:100050
HP:0011799	Abnormality of facial soft tissue	7252	TSHB	ORPHA:90674
HP:0011799	Abnormality of facial soft tissue	2161	F12	OMIM:610618
HP:0011799	Abnormality of facial soft tissue	64682	ANAPC1	ORPHA:221008
HP:0011799	Abnormality of facial soft tissue	4000	LMNA	ORPHA:280365
HP:0011799	Abnormality of facial soft tissue	4000	LMNA	OMIM:248370
HP:0011799	Abnormality of facial soft tissue	4000	LMNA	OMIM:151660
HP:0011799	Abnormality of facial soft tissue	63924	CIDEC	ORPHA:435651
HP:0011799	Abnormality of facial soft tissue	2074	ERCC6	OMIM:133540
HP:0011799	Abnormality of facial soft tissue	5468	PPARG	ORPHA:79083
HP:0011799	Abnormality of facial soft tissue	3763	KCNJ6	ORPHA:435628
HP:0011799	Abnormality of facial soft tissue	10269	ZMPSTE24	OMIM:608612
HP:0011799	Abnormality of facial soft tissue	5696	PSMB8	OMIM:256040
HP:0011799	Abnormality of facial soft tissue	1161	ERCC8	OMIM:216400
HP:0011799	Abnormality of facial soft tissue	11128	POLR3A	ORPHA:3455
HP:0011799	Abnormality of facial soft tissue	50801	KCNK4	OMIM:618381
HP:0011799	Abnormality of facial soft tissue	7528	YY1	ORPHA:506358
HP:0011799	Abnormality of facial soft tissue	7528	YY1	OMIM:617557
HP:0011799	Abnormality of facial soft tissue	5518	PPP2R1A	OMIM:616362
HP:0011799	Abnormality of facial soft tissue	5518	PPP2R1A	ORPHA:457284
HP:0011799	Abnormality of facial soft tissue	55768	NGLY1	OMIM:615273
HP:0011799	Abnormality of facial soft tissue	55768	NGLY1	ORPHA:404454
HP:0011799	Abnormality of facial soft tissue	27107	ZBTB11	OMIM:618383
HP:0011799	Abnormality of facial soft tissue	2892	GRIA3	ORPHA:364028
HP:0011799	Abnormality of facial soft tissue	11154	AP4S1	OMIM:614067
HP:0011799	Abnormality of facial soft tissue	11154	AP4S1	ORPHA:280763
HP:0011799	Abnormality of facial soft tissue	23126	POGZ	OMIM:616364
HP:0011799	Abnormality of facial soft tissue	23126	POGZ	ORPHA:468678
HP:0011799	Abnormality of facial soft tissue	92335	STRADA	ORPHA:500533
HP:0011799	Abnormality of facial soft tissue	92335	STRADA	OMIM:611087
HP:0011799	Abnormality of facial soft tissue	6418	SET	OMIM:618106
HP:0011799	Abnormality of facial soft tissue	285175	UNC80	OMIM:616801
HP:0011799	Abnormality of facial soft tissue	773	CACNA1A	ORPHA:2131
HP:0011799	Abnormality of facial soft tissue	6507	SLC1A3	ORPHA:2131
HP:0011799	Abnormality of facial soft tissue	477	ATP1A2	ORPHA:2131
HP:0011799	Abnormality of facial soft tissue	478	ATP1A3	ORPHA:2131
HP:0011799	Abnormality of facial soft tissue	9499	MYOT	ORPHA:266
HP:0011799	Abnormality of facial soft tissue	4125	MAN2B1	ORPHA:309282
HP:0011799	Abnormality of facial soft tissue	2548	GAA	ORPHA:308552
HP:0011799	Abnormality of facial soft tissue	23030	KDM4B	OMIM:619320
HP:0011799	Abnormality of facial soft tissue	283489	CHAMP1	OMIM:616579
HP:0011799	Abnormality of facial soft tissue	200424	TET3	OMIM:618798
HP:0011799	Abnormality of facial soft tissue	23431	AP4E1	OMIM:613744
HP:0011799	Abnormality of facial soft tissue	23431	AP4E1	ORPHA:280763
HP:0011799	Abnormality of facial soft tissue	271	AMPD2	OMIM:615809
HP:0011799	Abnormality of facial soft tissue	10717	AP4B1	ORPHA:280763
HP:0011799	Abnormality of facial soft tissue	9179	AP4M1	ORPHA:280763
HP:0011799	Abnormality of facial soft tissue	4204	MECP2	OMIM:300055
HP:0011799	Abnormality of facial soft tissue	4204	MECP2	OMIM:300260
HP:0011799	Abnormality of facial soft tissue	8925	HERC1	ORPHA:457359
HP:0011799	Abnormality of facial soft tissue	8242	KDM5C	OMIM:300534
HP:0011799	Abnormality of facial soft tissue	818	CAMK2G	OMIM:618522
HP:0011799	Abnormality of facial soft tissue	10463	SLC30A9	OMIM:617595
HP:0011799	Abnormality of facial soft tissue	10735	STAG2	ORPHA:521258
HP:0011799	Abnormality of facial soft tissue	5455	POU3F3	OMIM:618604
HP:0011799	Abnormality of facial soft tissue	1778	DYNC1H1	OMIM:614563
HP:0011799	Abnormality of facial soft tissue	29940	DSE	OMIM:615539
HP:0011799	Abnormality of facial soft tissue	157680	VPS13B	OMIM:216550
HP:0011799	Abnormality of facial soft tissue	7703	PCGF2	OMIM:618371
HP:0011799	Abnormality of facial soft tissue	171023	ASXL1	ORPHA:97297
HP:0011799	Abnormality of facial soft tissue	1760	DMPK	ORPHA:589821
HP:0011799	Abnormality of facial soft tissue	5528	PPP2R5D	OMIM:616355
HP:0011799	Abnormality of facial soft tissue	57178	ZMIZ1	OMIM:618659
HP:0011799	Abnormality of facial soft tissue	5813	PURA	ORPHA:438216
HP:0011799	Abnormality of facial soft tissue	23314	SATB2	OMIM:612313
HP:0011799	Abnormality of facial soft tissue	5081	PAX7	OMIM:618578
HP:0011799	Abnormality of facial soft tissue	2719	GPC3	OMIM:312870
HP:0011799	Abnormality of facial soft tissue	2239	GPC4	OMIM:312870
HP:0011799	Abnormality of facial soft tissue	64132	XYLT2	ORPHA:85194
HP:0011799	Abnormality of facial soft tissue	9230	RAB11B	OMIM:617807
HP:0011799	Abnormality of facial soft tissue	5521	PPP2R2B	OMIM:604326
HP:0011799	Abnormality of facial soft tissue	111	ADCY5	OMIM:606703
HP:0011799	Abnormality of facial soft tissue	111	ADCY5	ORPHA:324588
HP:0011799	Abnormality of facial soft tissue	203190	LGI3	OMIM:620007
HP:0011799	Abnormality of facial soft tissue	23400	ATP13A2	ORPHA:513436
HP:0011799	Abnormality of facial soft tissue	87178	PNPT1	OMIM:608703
HP:0011799	Abnormality of facial soft tissue	87178	PNPT1	ORPHA:101111
HP:0011799	Abnormality of facial soft tissue	6712	SPTBN2	OMIM:600224
HP:0011799	Abnormality of facial soft tissue	215	ABCD1	ORPHA:139396
HP:0011799	Abnormality of facial soft tissue	5582	PRKCG	OMIM:605361
HP:0011799	Abnormality of facial soft tissue	9897	WASHC5	ORPHA:7
HP:0011799	Abnormality of facial soft tissue	28952	CCDC22	ORPHA:7
HP:0011799	Abnormality of facial soft tissue	2776	GNAQ	OMIM:185300
HP:0011799	Abnormality of facial soft tissue	9630	GNA14	ORPHA:1063
HP:0011799	Abnormality of facial soft tissue	5500	PPP1CB	OMIM:617506
HP:0011799	Abnormality of facial soft tissue	79644	SRD5A3	OMIM:612713
HP:0011799	Abnormality of facial soft tissue	26040	SETBP1	OMIM:269150
HP:0011799	Abnormality of facial soft tissue	26040	SETBP1	ORPHA:798
HP:0011799	Abnormality of facial soft tissue	246329	STAC3	ORPHA:168572
HP:0011799	Abnormality of facial soft tissue	2512	FTL	OMIM:606159
HP:0011799	Abnormality of facial soft tissue	2512	FTL	ORPHA:157846
HP:0011799	Abnormality of facial soft tissue	8398	PLA2G6	ORPHA:199351
HP:0011799	Abnormality of facial soft tissue	8398	PLA2G6	OMIM:612953
HP:0011799	Abnormality of facial soft tissue	9895	TECPR2	ORPHA:320385
HP:0011799	Abnormality of facial soft tissue	9895	TECPR2	OMIM:615031
HP:0011799	Abnormality of facial soft tissue	10159	ATP6AP2	OMIM:300911
HP:0011799	Abnormality of facial soft tissue	10159	ATP6AP2	ORPHA:93952
HP:0011799	Abnormality of facial soft tissue	10159	ATP6AP2	OMIM:300423
HP:0011799	Abnormality of facial soft tissue	6571	SLC18A2	OMIM:618049
HP:0011799	Abnormality of facial soft tissue	6571	SLC18A2	ORPHA:352649
HP:0011799	Abnormality of facial soft tissue	8506	CNTNAP1	OMIM:618186
HP:0011799	Abnormality of facial soft tissue	23259	DDHD2	OMIM:615033
HP:0011799	Abnormality of facial soft tissue	55532	SLC30A10	ORPHA:309854
HP:0011799	Abnormality of facial soft tissue	58494	JAM2	OMIM:618824
HP:0011799	Abnormality of facial soft tissue	1213	CLTC	OMIM:617854
HP:0011799	Abnormality of facial soft tissue	6531	SLC6A3	OMIM:613135
HP:0011799	Abnormality of facial soft tissue	6531	SLC6A3	ORPHA:238455
HP:0011799	Abnormality of facial soft tissue	2629	GBA1	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	23317	DNAJC13	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	1981	EIF4G1	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	55737	VPS35	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	120892	LRRK2	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	26058	GIGYF2	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	6622	SNCA	ORPHA:411602
HP:0011799	Abnormality of facial soft tissue	6622	SNCA	ORPHA:171695
HP:0011799	Abnormality of facial soft tissue	6697	SPR	ORPHA:70594
HP:0011799	Abnormality of facial soft tissue	10907	TXNL4A	OMIM:608572
HP:0011799	Abnormality of facial soft tissue	9829	DNAJC6	ORPHA:391411
HP:0011799	Abnormality of facial soft tissue	9829	DNAJC6	OMIM:615528
HP:0011799	Abnormality of facial soft tissue	5420	PODXL	ORPHA:391411
HP:0011799	Abnormality of facial soft tissue	8867	SYNJ1	ORPHA:391411
HP:0011799	Abnormality of facial soft tissue	10935	PRDX3	OMIM:619862
HP:0011799	Abnormality of facial soft tissue	25793	FBXO7	ORPHA:171695
HP:0011799	Abnormality of facial soft tissue	25793	FBXO7	OMIM:260300
HP:0011799	Abnormality of facial soft tissue	51305	KCNK9	ORPHA:166108
HP:0011799	Abnormality of facial soft tissue	55753	OGDHL	OMIM:619701
HP:0011799	Abnormality of facial soft tissue	9373	PLAA	OMIM:617527
HP:0011799	Abnormality of facial soft tissue	54862	CC2D1A	OMIM:608443
HP:0011799	Abnormality of facial soft tissue	1717	DHCR7	OMIM:270400
HP:0011799	Abnormality of facial soft tissue	1717	DHCR7	ORPHA:818
HP:0011799	Abnormality of facial soft tissue	5921	RASA1	ORPHA:137667
HP:0011799	Abnormality of facial soft tissue	80036	TRPM3	OMIM:620224
HP:0011799	Abnormality of facial soft tissue	9939	RBM8A	OMIM:274000
HP:0011799	Abnormality of facial soft tissue	4359	MPZ	OMIM:618184
HP:0011799	Abnormality of facial soft tissue	91574	MTRFR	ORPHA:254930
HP:0011799	Abnormality of facial soft tissue	91574	MTRFR	OMIM:613559
HP:0011799	Abnormality of facial soft tissue	112	ADCY6	OMIM:616287
HP:0011799	Abnormality of facial soft tissue	2733	GLE1	OMIM:611890
HP:0011799	Abnormality of facial soft tissue	1410	CRYAB	ORPHA:399058
HP:0011799	Abnormality of facial soft tissue	19	ABCA1	OMIM:205400
HP:0011799	Abnormality of facial soft tissue	19	ABCA1	ORPHA:31150
HP:0011799	Abnormality of facial soft tissue	9997	SCO2	ORPHA:521411
HP:0011799	Abnormality of facial soft tissue	8803	SUCLA2	OMIM:612073
HP:0011799	Abnormality of facial soft tissue	6472	SHMT2	OMIM:619121
HP:0011799	Abnormality of facial soft tissue	10730	YME1L1	OMIM:617302
HP:0011799	Abnormality of facial soft tissue	2218	FKTN	ORPHA:370980
HP:0011799	Abnormality of facial soft tissue	729920	CRPPA	ORPHA:370980
HP:0011799	Abnormality of facial soft tissue	9990	SLC12A6	OMIM:218000
HP:0011799	Abnormality of facial soft tissue	57679	ALS2	OMIM:205100
HP:0011799	Abnormality of facial soft tissue	57679	ALS2	OMIM:606353
HP:0011799	Abnormality of facial soft tissue	10992	SF3B2	OMIM:164210
HP:0011799	Abnormality of facial soft tissue	4649	MYO9A	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	1103	CHAT	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	6576	SLC25A1	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	6843	VAMP1	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	127833	SYT2	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	6572	SLC18A3	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	6616	SNAP25	ORPHA:98914
HP:0011799	Abnormality of facial soft tissue	1836	SLC26A2	ORPHA:56304
HP:0011799	Abnormality of facial soft tissue	84570	COL25A1	ORPHA:91411
HP:0011799	Abnormality of facial soft tissue	79776	ZFHX4	ORPHA:91411
HP:0011799	Abnormality of facial soft tissue	27247	NFU1	OMIM:605711
HP:0011799	Abnormality of facial soft tissue	1282	COL4A1	OMIM:175780
HP:0011799	Abnormality of facial soft tissue	112476	PRRT2	ORPHA:569
HP:0011799	Abnormality of facial soft tissue	6323	SCN1A	ORPHA:569
HP:0011799	Abnormality of facial soft tissue	8600	TNFSF11	OMIM:259710
HP:0011799	Abnormality of facial soft tissue	157570	ESCO2	OMIM:268300
HP:0011799	Abnormality of facial soft tissue	157570	ESCO2	ORPHA:3103
HP:0011799	Abnormality of facial soft tissue	4247	MGAT2	OMIM:212066
HP:0011799	Abnormality of facial soft tissue	5447	POR	ORPHA:95699
HP:0011799	Abnormality of facial soft tissue	2737	GLI3	ORPHA:672
HP:0011799	Abnormality of facial soft tissue	2737	GLI3	OMIM:146510
HP:0011799	Abnormality of facial soft tissue	10225	CD96	ORPHA:1308
HP:0011799	Abnormality of facial soft tissue	84823	LMNB2	OMIM:608709
HP:0011799	Abnormality of facial soft tissue	4292	MLH1	OMIM:158320
HP:0011799	Abnormality of facial soft tissue	4292	MLH1	ORPHA:587
HP:0011799	Abnormality of facial soft tissue	4436	MSH2	OMIM:158320
HP:0011799	Abnormality of facial soft tissue	4436	MSH2	ORPHA:587
HP:0011799	Abnormality of facial soft tissue	3265	HRAS	ORPHA:2612
HP:0011799	Abnormality of facial soft tissue	3845	KRAS	ORPHA:2612
HP:0011799	Abnormality of facial soft tissue	4893	NRAS	ORPHA:2612
HP:0011799	Abnormality of facial soft tissue	7249	TSC2	OMIM:613254
HP:0011799	Abnormality of facial soft tissue	3458	IFNG	OMIM:613254
HP:0011799	Abnormality of facial soft tissue	2956	MSH6	ORPHA:587
HP:0011799	Abnormality of facial soft tissue	10483	SEC23B	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	5728	PTEN	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	6390	SDHB	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	6392	SDHD	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	6391	SDHC	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	205717	USF3	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	100144748	KLLN	ORPHA:201
HP:0011799	Abnormality of facial soft tissue	5333	PLCD1	ORPHA:2387
HP:0011799	Abnormality of facial soft tissue	7248	TSC1	OMIM:191100
HP:0011799	Abnormality of facial soft tissue	4221	MEN1	OMIM:131100
HP:0011799	Abnormality of facial soft tissue	3872	KRT17	ORPHA:841
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	ORPHA:97240
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	ORPHA:171433
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	ORPHA:171430
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	OMIM:616852
HP:0011799	Abnormality of facial soft tissue	58	ACTA1	OMIM:161800
HP:0011799	Abnormality of facial soft tissue	50964	SOST	OMIM:269500
HP:0011799	Abnormality of facial soft tissue	50964	SOST	ORPHA:3416
HP:0011799	Abnormality of facial soft tissue	50964	SOST	ORPHA:3152
HP:0011799	Abnormality of facial soft tissue	274	BIN1	ORPHA:169186
HP:0011799	Abnormality of facial soft tissue	274	BIN1	OMIM:255200
HP:0011799	Abnormality of facial soft tissue	10290	SPEG	ORPHA:169186
HP:0011799	Abnormality of facial soft tissue	7273	TTN	ORPHA:169186
HP:0011799	Abnormality of facial soft tissue	291	SLC25A4	ORPHA:254892
HP:0011799	Abnormality of facial soft tissue	291	SLC25A4	OMIM:609283
HP:0011799	Abnormality of facial soft tissue	5428	POLG	ORPHA:254892
HP:0011799	Abnormality of facial soft tissue	5428	POLG	OMIM:258450
HP:0011799	Abnormality of facial soft tissue	5428	POLG	ORPHA:254886
HP:0011799	Abnormality of facial soft tissue	5428	POLG	OMIM:157640
HP:0011799	Abnormality of facial soft tissue	56652	TWNK	ORPHA:254892
HP:0011799	Abnormality of facial soft tissue	11232	POLG2	ORPHA:254892
HP:0011799	Abnormality of facial soft tissue	11232	POLG2	OMIM:610131
HP:0011799	Abnormality of facial soft tissue	50484	RRM2B	ORPHA:254892
HP:0011799	Abnormality of facial soft tissue	22827	PUF60	ORPHA:508498
HP:0011799	Abnormality of facial soft tissue	55906	ZC4H2	OMIM:301041
HP:0011799	Abnormality of facial soft tissue	55906	ZC4H2	OMIM:314580
HP:0011799	Abnormality of facial soft tissue	2673	GFPT1	OMIM:608931
HP:0011799	Abnormality of facial soft tissue	2673	GFPT1	ORPHA:353327
HP:0011799	Abnormality of facial soft tissue	2673	GFPT1	OMIM:610542
HP:0011799	Abnormality of facial soft tissue	1145	CHRNE	OMIM:608931
HP:0011799	Abnormality of facial soft tissue	1145	CHRNE	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	1291	COL6A1	OMIM:254090
HP:0011799	Abnormality of facial soft tissue	1292	COL6A2	OMIM:254090
HP:0011799	Abnormality of facial soft tissue	1292	COL6A2	OMIM:255600
HP:0011799	Abnormality of facial soft tissue	1293	COL6A3	OMIM:254090
HP:0011799	Abnormality of facial soft tissue	1144	CHRND	OMIM:616322
HP:0011799	Abnormality of facial soft tissue	1144	CHRND	OMIM:616323
HP:0011799	Abnormality of facial soft tissue	1144	CHRND	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	2138	EYA1	OMIM:113650
HP:0011799	Abnormality of facial soft tissue	2138	EYA1	ORPHA:107
HP:0011799	Abnormality of facial soft tissue	2138	EYA1	ORPHA:52429
HP:0011799	Abnormality of facial soft tissue	6495	SIX1	OMIM:113650
HP:0011799	Abnormality of facial soft tissue	6495	SIX1	ORPHA:107
HP:0011799	Abnormality of facial soft tissue	6495	SIX1	ORPHA:52429
HP:0011799	Abnormality of facial soft tissue	56203	LMOD3	OMIM:616165
HP:0011799	Abnormality of facial soft tissue	56203	LMOD3	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	56203	LMOD3	ORPHA:171430
HP:0011799	Abnormality of facial soft tissue	2697	GJA1	ORPHA:1522
HP:0011799	Abnormality of facial soft tissue	2697	GJA1	OMIM:218400
HP:0011799	Abnormality of facial soft tissue	56172	ANKH	ORPHA:1522
HP:0011799	Abnormality of facial soft tissue	56172	ANKH	OMIM:123000
HP:0011799	Abnormality of facial soft tissue	4593	MUSK	OMIM:616325
HP:0011799	Abnormality of facial soft tissue	4593	MUSK	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	10312	TCIRG1	OMIM:259700
HP:0011799	Abnormality of facial soft tissue	1305	COL13A1	OMIM:616720
HP:0011799	Abnormality of facial soft tissue	1305	COL13A1	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	23394	ADNP	OMIM:615873
HP:0011799	Abnormality of facial soft tissue	400916	CHCHD10	OMIM:616209
HP:0011799	Abnormality of facial soft tissue	4038	LRP4	OMIM:614305
HP:0011799	Abnormality of facial soft tissue	4038	LRP4	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	4038	LRP4	ORPHA:3152
HP:0011799	Abnormality of facial soft tissue	7415	VCP	OMIM:167320
HP:0011799	Abnormality of facial soft tissue	1134	CHRNA1	OMIM:608930
HP:0011799	Abnormality of facial soft tissue	1134	CHRNA1	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	4747	NEFL	OMIM:607684
HP:0011799	Abnormality of facial soft tissue	825	CAPN3	OMIM:253600
HP:0011799	Abnormality of facial soft tissue	57167	SALL4	OMIM:607323
HP:0011799	Abnormality of facial soft tissue	79581	SLC52A2	OMIM:614707
HP:0011799	Abnormality of facial soft tissue	10049	DNAJB6	OMIM:603511
HP:0011799	Abnormality of facial soft tissue	1120	CHKB	OMIM:602541
HP:0011799	Abnormality of facial soft tissue	57165	GJC2	OMIM:608804
HP:0011799	Abnormality of facial soft tissue	29887	SNX10	OMIM:615085
HP:0011799	Abnormality of facial soft tissue	7169	TPM2	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	7169	TPM2	ORPHA:171881
HP:0011799	Abnormality of facial soft tissue	4703	NEB	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	4703	NEB	ORPHA:171433
HP:0011799	Abnormality of facial soft tissue	4703	NEB	ORPHA:171430
HP:0011799	Abnormality of facial soft tissue	10324	KLHL41	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	10324	KLHL41	ORPHA:171433
HP:0011799	Abnormality of facial soft tissue	10324	KLHL41	ORPHA:171430
HP:0011799	Abnormality of facial soft tissue	1073	CFL2	ORPHA:171436
HP:0011799	Abnormality of facial soft tissue	60482	SLC5A7	OMIM:617143
HP:0011799	Abnormality of facial soft tissue	7084	TK2	ORPHA:254886
HP:0011799	Abnormality of facial soft tissue	92667	MGME1	OMIM:615084
HP:0011799	Abnormality of facial soft tissue	7170	TPM3	ORPHA:171433
HP:0011799	Abnormality of facial soft tissue	7170	TPM3	ORPHA:171881
HP:0011799	Abnormality of facial soft tissue	7170	TPM3	OMIM:255310
HP:0011799	Abnormality of facial soft tissue	29998	BICRA	OMIM:619325
HP:0011799	Abnormality of facial soft tissue	131377	KLHL40	ORPHA:171430
HP:0011799	Abnormality of facial soft tissue	131377	KLHL40	OMIM:615348
HP:0011799	Abnormality of facial soft tissue	9790	BMS1	ORPHA:1114
HP:0011799	Abnormality of facial soft tissue	5339	PLEC	ORPHA:1114
HP:0011799	Abnormality of facial soft tissue	10054	UBA2	ORPHA:1114
HP:0011799	Abnormality of facial soft tissue	3691	ITGB4	ORPHA:1114
HP:0011799	Abnormality of facial soft tissue	54567	DLL4	ORPHA:1114
HP:0011799	Abnormality of facial soft tissue	4041	LRP5	ORPHA:3416
HP:0011799	Abnormality of facial soft tissue	4041	LRP5	ORPHA:2790
HP:0011799	Abnormality of facial soft tissue	4041	LRP5	ORPHA:178377
HP:0011799	Abnormality of facial soft tissue	84466	MEGF10	OMIM:614399
HP:0011799	Abnormality of facial soft tissue	55636	CHD7	ORPHA:138
HP:0011799	Abnormality of facial soft tissue	55636	CHD7	OMIM:214800
HP:0011799	Abnormality of facial soft tissue	9723	SEMA3E	ORPHA:138
HP:0011799	Abnormality of facial soft tissue	3908	LAMA2	ORPHA:258
HP:0011799	Abnormality of facial soft tissue	389827	MYMK	ORPHA:1358
HP:0011799	Abnormality of facial soft tissue	389827	MYMK	OMIM:254940
HP:0011799	Abnormality of facial soft tissue	101929726	MYMX	ORPHA:1358
HP:0011799	Abnormality of facial soft tissue	29925	GMPPB	ORPHA:353327
HP:0011799	Abnormality of facial soft tissue	29925	GMPPB	ORPHA:370968
HP:0011799	Abnormality of facial soft tissue	1798	DPAGT1	ORPHA:353327
HP:0011799	Abnormality of facial soft tissue	85365	ALG2	ORPHA:353327
HP:0011799	Abnormality of facial soft tissue	199857	ALG14	ORPHA:353327
HP:0011799	Abnormality of facial soft tissue	427	ASAH1	OMIM:159950
HP:0011799	Abnormality of facial soft tissue	79147	FKRP	ORPHA:370968
HP:0011799	Abnormality of facial soft tissue	79147	FKRP	OMIM:606612
HP:0011799	Abnormality of facial soft tissue	29954	POMT2	ORPHA:370968
HP:0011799	Abnormality of facial soft tissue	29954	POMT2	OMIM:613156
HP:0011799	Abnormality of facial soft tissue	9215	LARGE1	ORPHA:370968
HP:0011799	Abnormality of facial soft tissue	9215	LARGE1	OMIM:608840
HP:0011799	Abnormality of facial soft tissue	10585	POMT1	ORPHA:370968
HP:0011799	Abnormality of facial soft tissue	10585	POMT1	OMIM:613155
HP:0011799	Abnormality of facial soft tissue	57190	SELENON	OMIM:602771
HP:0011799	Abnormality of facial soft tissue	51816	ADA2	OMIM:182410
HP:0011799	Abnormality of facial soft tissue	5980	REV3L	ORPHA:570
HP:0011799	Abnormality of facial soft tissue	23129	PLXND1	ORPHA:570
HP:0011799	Abnormality of facial soft tissue	8878	SQSTM1	OMIM:617158
HP:0011799	Abnormality of facial soft tissue	84665	MYPN	ORPHA:171881
HP:0011799	Abnormality of facial soft tissue	84665	MYPN	OMIM:617336
HP:0011799	Abnormality of facial soft tissue	10381	TUBB3	OMIM:600638
HP:0011799	Abnormality of facial soft tissue	22954	TRIM32	OMIM:254110
HP:0011799	Abnormality of facial soft tissue	56244	BTNL2	OMIM:612387
HP:0011799	Abnormality of facial soft tissue	56244	BTNL2	ORPHA:797
HP:0011799	Abnormality of facial soft tissue	29967	LRP12	OMIM:164310
HP:0011799	Abnormality of facial soft tissue	10020	GNE	ORPHA:602
HP:0011799	Abnormality of facial soft tissue	7020	TFAP2A	OMIM:113620
HP:0011799	Abnormality of facial soft tissue	51651	PTRH2	ORPHA:456312
HP:0011799	Abnormality of facial soft tissue	1303	COL12A1	OMIM:616470
HP:0011799	Abnormality of facial soft tissue	7317	UBA1	OMIM:301830
HP:0011799	Abnormality of facial soft tissue	390594	KBTBD13	OMIM:609273
HP:0011799	Abnormality of facial soft tissue	139285	AMER1	ORPHA:2780
HP:0011799	Abnormality of facial soft tissue	139285	AMER1	OMIM:300373
HP:0011799	Abnormality of facial soft tissue	9531	BAG3	OMIM:612954
HP:0011799	Abnormality of facial soft tissue	9244	CRLF1	OMIM:272430
HP:0011799	Abnormality of facial soft tissue	113278	SLC52A3	OMIM:211530
HP:0011799	Abnormality of facial soft tissue	3123	HLA-DRB1	ORPHA:797
HP:0011799	Abnormality of facial soft tissue	84617	TUBB6	OMIM:617732
HP:0011799	Abnormality of facial soft tissue	9791	PTDSS1	ORPHA:2658
HP:0011799	Abnormality of facial soft tissue	8314	BAP1	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	4771	NF2	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	4771	NF2	ORPHA:637
HP:0011799	Abnormality of facial soft tissue	6598	SMARCB1	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	5155	PDGFB	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	84231	TRAF7	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	6608	SMO	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	207	AKT1	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	5290	PIK3CA	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	7015	TERT	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	51684	SUFU	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	6605	SMARCE1	ORPHA:2495
HP:0011799	Abnormality of facial soft tissue	3211	HOXB1	OMIM:614744
HP:0011799	Abnormality of facial soft tissue	4534	MTM1	OMIM:310400
HP:0011799	Abnormality of facial soft tissue	7040	TGFB1	ORPHA:1328
HP:0011799	Abnormality of facial soft tissue	8085	KMT2D	OMIM:620186
HP:0011799	Abnormality of facial soft tissue	80704	SLC19A3	OMIM:607483
HP:0011799	Abnormality of facial soft tissue	147912	SIX5	ORPHA:107
HP:0011799	Abnormality of facial soft tissue	8898	MTMR2	OMIM:601382
HP:0011799	Abnormality of facial soft tissue	1785	DNM2	OMIM:160150
HP:0011799	Abnormality of facial soft tissue	64419	MTMR14	OMIM:160150
HP:0011799	Abnormality of facial soft tissue	2934	GSN	ORPHA:85448
HP:0011799	Abnormality of facial soft tissue	23095	KIF1B	OMIM:118210
HP:0011799	Abnormality of facial soft tissue	1674	DES	OMIM:601419
HP:0011799	Abnormality of facial soft tissue	8292	COLQ	ORPHA:98915
HP:0011799	Abnormality of facial soft tissue	3913	LAMB2	ORPHA:98915
HP:0011799	Abnormality of facial soft tissue	6444	SGCD	ORPHA:219
HP:0011799	Abnormality of facial soft tissue	23516	SLC39A14	OMIM:144755
HP:0011799	Abnormality of facial soft tissue	8106	PABPN1	OMIM:164300
HP:0011799	Abnormality of facial soft tissue	6329	SCN4A	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	1140	CHRNB1	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	1140	CHRNB1	OMIM:616313
HP:0011799	Abnormality of facial soft tissue	5913	RAPSN	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	375790	AGRN	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	221264	AK9	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	285489	DOK7	ORPHA:98913
HP:0011799	Abnormality of facial soft tissue	1186	CLCN7	OMIM:166600
HP:0011799	Abnormality of facial soft tissue	1186	CLCN7	OMIM:611490
HP:0011799	Abnormality of facial soft tissue	1186	CLCN7	ORPHA:53
HP:0011799	Abnormality of facial soft tissue	55670	PEX26	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5824	PEX19	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	8504	PEX3	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	9409	PEX16	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5190	PEX6	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	8799	PEX11B	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5189	PEX1	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5193	PEX12	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5194	PEX13	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5195	PEX14	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	5192	PEX10	ORPHA:772
HP:0011799	Abnormality of facial soft tissue	339855	KY	OMIM:617114
HP:0011799	Abnormality of facial soft tissue	57731	SPTBN4	OMIM:617519
HP:0011799	Abnormality of facial soft tissue	64127	NOD2	ORPHA:90340
HP:0011799	Abnormality of facial soft tissue	8139	GAN	ORPHA:643
HP:0011799	Abnormality of facial soft tissue	8139	GAN	OMIM:256850
HP:0011799	Abnormality of facial soft tissue	28962	OSTM1	OMIM:259720
HP:0011799	Abnormality of facial soft tissue	79628	SH3TC2	OMIM:601596
HP:0011799	Abnormality of facial soft tissue	4633	MYL2	OMIM:619424
HP:0011799	Abnormality of facial soft tissue	29089	UBE2T	OMIM:616435
HP:0011799	Abnormality of facial soft tissue	203859	ANO5	OMIM:611307
HP:0011799	Abnormality of facial soft tissue	203859	ANO5	ORPHA:206549
HP:0011799	Abnormality of facial soft tissue	1861	TOR1A	OMIM:128100
HP:0011799	Abnormality of facial soft tissue	59341	TRPV4	OMIM:181405
HP:0011799	Abnormality of facial soft tissue	1277	COL1A1	ORPHA:287
HP:0011799	Abnormality of facial soft tissue	1289	COL5A1	ORPHA:287
HP:0011799	Abnormality of facial soft tissue	1290	COL5A2	ORPHA:287
HP:0011799	Abnormality of facial soft tissue	1009	CDH11	ORPHA:1299
HP:0011799	Abnormality of facial soft tissue	9509	ADAMTS2	OMIM:225410
HP:0011799	Abnormality of facial soft tissue	4556	MT-TE	ORPHA:2596
HP:0011799	Abnormality of facial soft tissue	4625	MYH7	ORPHA:59135
HP:0011799	Abnormality of facial soft tissue	7994	KAT6A	OMIM:616268
HP:0011799	Abnormality of facial soft tissue	22907	DHX30	OMIM:617804
HP:0011799	Abnormality of facial soft tissue	55315	SLC29A3	ORPHA:168569
HP:0011799	Abnormality of facial soft tissue	116931	MED12L	OMIM:618872
HP:0011799	Abnormality of facial soft tissue	11198	SUPT16H	OMIM:619480
HP:0011799	Abnormality of facial soft tissue	7516	XRCC2	OMIM:617247
HP:0011799	Abnormality of facial soft tissue	3098	HK1	OMIM:618547
HP:0011799	Abnormality of facial soft tissue	353116	RILPL1	OMIM:619790
HP:0011799	Abnormality of facial soft tissue	253738	EBF3	OMIM:617330
HP:0011799	Abnormality of facial soft tissue	55791	LRIF1	OMIM:619477
HP:0011799	Abnormality of facial soft tissue	4574	MT-TS1	OMIM:220110
HP:0011799	Abnormality of facial soft tissue	4570	MT-TN	OMIM:220110
HP:0011799	Abnormality of facial soft tissue	6834	SURF1	OMIM:220110
HP:0011799	Abnormality of facial soft tissue	35	ACADS	OMIM:201470
HP:0011799	Abnormality of facial soft tissue	246243	RNASEH1	ORPHA:329336
HP:0011799	Abnormality of facial soft tissue	57863	CADM3	OMIM:619519
HP:0011799	Abnormality of facial soft tissue	2318	FLNC	ORPHA:63273
HP:0011799	Abnormality of facial soft tissue	1639	DCTN1	OMIM:607641
HP:0011799	Abnormality of facial soft tissue	7555	CNBP	OMIM:602668
HP:0011799	Abnormality of facial soft tissue	3714	JAG2	OMIM:619566
HP:0011799	Abnormality of facial soft tissue	101060691	NUTM2B-AS1	OMIM:618637
HP:0011799	Abnormality of facial soft tissue	23529	CLCF1	OMIM:610313
HP:0011799	Abnormality of facial soft tissue	9200	HACD1	OMIM:619967
HP:0011799	Abnormality of facial soft tissue	9200	HACD1	ORPHA:2020
HP:0011799	Abnormality of facial soft tissue	7125	TNNC2	OMIM:620161
HP:0011799	Abnormality of facial soft tissue	10059	DNM1L	ORPHA:98673
HP:0011799	Abnormality of facial soft tissue	4976	OPA1	ORPHA:98673
HP:0011799	Abnormality of facial soft tissue	1146	CHRNG	OMIM:265000
HP:0011799	Abnormality of facial soft tissue	122622	ADSS1	OMIM:617030
HP:0011799	Abnormality of facial soft tissue	122622	ADSS1	ORPHA:482601
HP:0011799	Abnormality of facial soft tissue	1621	DBH	OMIM:223360
HP:0011799	Abnormality of facial soft tissue	64207	IRF2BPL	OMIM:618088
HP:0011799	Abnormality of facial soft tissue	8565	YARS1	OMIM:619418
HP:0011799	Abnormality of facial soft tissue	311	ANXA11	OMIM:619733
HP:0011799	Abnormality of facial soft tissue	81846	SBF2	ORPHA:99956
HP:0011799	Abnormality of facial soft tissue	1339	COX6A2	OMIM:619062
HP:0011799	Abnormality of facial soft tissue	3679	ITGA7	ORPHA:2020
HP:0011799	Abnormality of facial soft tissue	51776	MAP3K20	ORPHA:2020
HP:0011799	Abnormality of facial soft tissue	11277	TREX1	ORPHA:247691
HP:0011799	Abnormality of facial soft tissue	88	ACTN2	OMIM:618654
HP:0011799	Abnormality of facial soft tissue	54332	GDAP1	ORPHA:99948
HP:0011799	Abnormality of facial soft tissue	4632	MYL1	OMIM:618414
HP:0011799	Abnormality of facial soft tissue	89874	SLC25A21	OMIM:618811
HP:0011799	Abnormality of facial soft tissue	79731	NARS2	OMIM:616239
HP:0011799	Abnormality of facial soft tissue	284439	SLC25A42	OMIM:618416
HP:0011799	Abnormality of facial soft tissue	55154	MSTO1	ORPHA:502423
HP:0011799	Abnormality of facial soft tissue	7174	TPP2	OMIM:619220
HP:0011799	Abnormality of facial soft tissue	23175	LPIN1	ORPHA:99845
HP:0011799	Abnormality of facial soft tissue	4512	MT-CO1	ORPHA:99845
HP:0011799	Abnormality of facial soft tissue	4514	MT-CO3	ORPHA:99845
HP:0011799	Abnormality of facial soft tissue	51371	POMP	OMIM:618048
HP:0011799	Abnormality of facial soft tissue	5692	PSMB4	OMIM:617591
HP:0011799	Abnormality of facial soft tissue	5698	PSMB9	OMIM:617591
HP:0011799	Abnormality of facial soft tissue	8425	LTBP4	OMIM:613177
HP:0011799	Abnormality of facial soft tissue	7132	TNFRSF1A	OMIM:142680
HP:0011799	Abnormality of facial soft tissue	7132	TNFRSF1A	ORPHA:32960
HP:0011799	Abnormality of facial soft tissue	6804	STX1A	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	7461	CLIP2	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	84277	DNAJC30	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	8468	FKBP6	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	5982	RFC2	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	2969	GTF2I	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	3984	LIMK1	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	9569	GTF2IRD1	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	155382	VPS37D	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	155368	METTL27	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	114049	BUD23	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	7458	EIF4H	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	84163	GTF2IRD2	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	9275	BCL7B	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	26608	TBL2	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	653361	NCF1	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	135886	TMEM270	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	51085	MLXIPL	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	9031	BAZ1B	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	2006	ELN	ORPHA:904
HP:0011799	Abnormality of facial soft tissue	1493	CTLA4	ORPHA:900
HP:0011799	Abnormality of facial soft tissue	26191	PTPN22	ORPHA:900
HP:0011799	Abnormality of facial soft tissue	3115	HLA-DPB1	ORPHA:900
HP:0011799	Abnormality of facial soft tissue	5657	PRTN3	ORPHA:900
HP:0011799	Abnormality of facial soft tissue	3113	HLA-DPA1	ORPHA:900
HP:0011799	Abnormality of facial soft tissue	147372	CCBE1	OMIM:235510
HP:0011799	Abnormality of facial soft tissue	285362	SUMF1	OMIM:272200
HP:0011799	Abnormality of facial soft tissue	4615	MYD88	ORPHA:33226
HP:0011799	Abnormality of facial soft tissue	3321	IGSF3	OMIM:149700
HP:0011799	Abnormality of facial soft tissue	4868	NPHS1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	23607	CD2AP	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	9688	NUP93	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	4643	MYO1E	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	64423	INF2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	26130	GAPVD1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	7490	WT1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	57122	NUP107	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	51479	ANKFY1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	54443	ANLN	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	5800	PTPRO	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	286204	CRB2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	23165	NUP205	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	2013	EMP2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	79023	NUP37	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	51196	PLCE1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	79902	NUP85	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	1285	COL4A3	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	396	ARHGDIA	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	79934	COQ8B	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	23279	NUP160	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	9863	MAGI2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	81	ACTN4	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	7225	TRPC6	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	8542	APOL1	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	54885	TBC1D8B	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	7827	NPHS2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	83478	ARHGAP24	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	23500	DAAM2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	5076	PAX2	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	55746	NUP133	ORPHA:656
HP:0011799	Abnormality of facial soft tissue	54345	SOX18	OMIM:137940
HP:0011799	Abnormality of facial soft tissue	54345	SOX18	OMIM:607823
HP:0011799	Abnormality of facial soft tissue	54345	SOX18	ORPHA:69735
HP:0011799	Abnormality of facial soft tissue	2290	FOXG1	ORPHA:261144
HP:0011799	Abnormality of facial soft tissue	54453	RIN2	OMIM:613075
HP:0011799	Abnormality of facial soft tissue	6711	SPTBN1	OMIM:619475
HP:0011799	Abnormality of facial soft tissue	85358	SHANK3	ORPHA:48652
HP:0011799	Abnormality of facial soft tissue	85358	SHANK3	OMIM:606232
HP:0011799	Abnormality of facial soft tissue	7045	TGFBI	OMIM:608470
HP:0011799	Abnormality of facial soft tissue	284252	KCTD1	ORPHA:2036
HP:0011799	Abnormality of facial soft tissue	284252	KCTD1	OMIM:181270
HP:0011799	Abnormality of facial soft tissue	9326	ZNHIT3	ORPHA:2836
HP:0011799	Abnormality of facial soft tissue	547	KIF1A	ORPHA:2836
HP:0011799	Abnormality of facial soft tissue	5828	PEX2	OMIM:614866
HP:0011799	Abnormality of facial soft tissue	5457	POU4F1	ORPHA:314647
HP:0011799	Abnormality of facial soft tissue	23261	CAMTA1	ORPHA:314647
HP:0011799	Abnormality of facial soft tissue	23261	CAMTA1	OMIM:614756
HP:0011799	Abnormality of facial soft tissue	5830	PEX5	OMIM:214110
HP:0011799	Abnormality of facial soft tissue	83550	GPR101	ORPHA:963
HP:0011799	Abnormality of facial soft tissue	9049	AIP	ORPHA:963
HP:0011799	Abnormality of facial soft tissue	5293	PIK3CD	ORPHA:221139
HP:0011799	Abnormality of facial soft tissue	90417	KNSTRN	ORPHA:221139
HP:0011799	Abnormality of facial soft tissue	22947	DUX4L1	ORPHA:269
HP:0011799	Abnormality of facial soft tissue	1789	DNMT3B	ORPHA:269
HP:0011799	Abnormality of facial soft tissue	2483	FRG1	ORPHA:269
HP:0011799	Abnormality of facial soft tissue	23347	SMCHD1	ORPHA:269
HP:0011799	Abnormality of facial soft tissue	100288687	DUX4	ORPHA:269
HP:0011799	Abnormality of facial soft tissue	71	ACTG1	ORPHA:2995
HP:0011799	Abnormality of facial soft tissue	60	ACTB	ORPHA:2995
HP:0011799	Abnormality of facial soft tissue	11133	KPTN	ORPHA:397612
HP:0011799	Abnormality of facial soft tissue	84168	ANTXR1	ORPHA:2067
HP:0011799	Abnormality of facial soft tissue	5723	PSPH	ORPHA:79350
HP:0011799	Abnormality of facial soft tissue	79158	GNPTAB	OMIM:252500
HP:0011799	Abnormality of facial soft tissue	57231	SNX14	ORPHA:397709
HP:0011799	Abnormality of facial soft tissue	55343	SLC35C1	ORPHA:99843
HP:0011799	Abnormality of facial soft tissue	55691	FRMD4A	ORPHA:466688
HP:0011799	Abnormality of facial soft tissue	22861	NLRP1	OMIM:618803
HP:0011799	Abnormality of facial soft tissue	4487	MSX1	ORPHA:141291
HP:0011799	Abnormality of facial soft tissue	5818	NECTIN1	ORPHA:141291
HP:0011799	Abnormality of facial soft tissue	8626	TP63	ORPHA:141291
HP:0011799	Abnormality of facial soft tissue	3664	IRF6	ORPHA:141291
HP:0011799	Abnormality of facial soft tissue	9289	ADGRG1	ORPHA:98889
HP:0011799	Abnormality of facial soft tissue	5297	PI4KA	ORPHA:98889
HP:0011799	Abnormality of facial soft tissue	27286	SRPX2	ORPHA:98889
HP:0011799	Abnormality of facial soft tissue	6310	ATXN1	ORPHA:98755
HP:0011799	Abnormality of facial soft tissue	23345	SYNE1	ORPHA:319332
HP:0011799	Abnormality of facial soft tissue	779	CACNA1S	ORPHA:423
HP:0011799	Abnormality of facial soft tissue	6261	RYR1	ORPHA:423
HP:0011799	Abnormality of facial soft tissue	10755	GIPC1	ORPHA:98897
HP:0011799	Abnormality of facial soft tissue	100996717	NOTCH2NLC	ORPHA:98897
HP:0011792	Neoplasm by histology	6654	SOS1	OMIM:135300
HP:0011792	Neoplasm by histology	6654	SOS1	ORPHA:2024
HP:0011792	Neoplasm by histology	1718	DHCR24	OMIM:602398
HP:0011792	Neoplasm by histology	4854	NOTCH3	ORPHA:2591
HP:0011792	Neoplasm by histology	5159	PDGFRB	ORPHA:2591
HP:0011792	Neoplasm by histology	118429	ANTXR2	OMIM:228600
HP:0011792	Neoplasm by histology	118429	ANTXR2	ORPHA:2028
HP:0011792	Neoplasm by histology	23461	ABCA5	OMIM:135400
HP:0011792	Neoplasm by histology	23461	ABCA5	ORPHA:2026
HP:0011792	Neoplasm by histology	54757	FAM20A	OMIM:204690
HP:0011792	Neoplasm by histology	3756	KCNH1	OMIM:135500
HP:0011792	Neoplasm by histology	3756	KCNH1	ORPHA:3473
HP:0011792	Neoplasm by histology	63916	ELMO2	ORPHA:3019
HP:0011792	Neoplasm by histology	526	ATP6V1B2	ORPHA:3473
HP:0011792	Neoplasm by histology	3782	KCNN3	ORPHA:3473
HP:0011792	Neoplasm by histology	56975	FAM20C	ORPHA:1832
HP:0011792	Neoplasm by histology	4763	NF1	OMIM:601321
HP:0011792	Neoplasm by histology	4763	NF1	OMIM:162200
HP:0011792	Neoplasm by histology	4763	NF1	OMIM:162210
HP:0011792	Neoplasm by histology	4763	NF1	OMIM:193520
HP:0011792	Neoplasm by histology	6390	SDHB	OMIM:606764
HP:0011792	Neoplasm by histology	6391	SDHC	OMIM:606764
HP:0011792	Neoplasm by histology	6711	SPTBN1	OMIM:619475
HP:0011792	Neoplasm by histology	161742	SPRED1	OMIM:611431
HP:0011792	Neoplasm by histology	161742	SPRED1	ORPHA:137605
HP:0011792	Neoplasm by histology	4771	NF2	ORPHA:2495
HP:0011792	Neoplasm by histology	6598	SMARCB1	ORPHA:2495
HP:0011792	Neoplasm by histology	5155	PDGFB	ORPHA:2495
HP:0011792	Neoplasm by histology	84231	TRAF7	ORPHA:2495
HP:0011792	Neoplasm by histology	6608	SMO	ORPHA:2495
HP:0011792	Neoplasm by histology	5290	PIK3CA	ORPHA:2495
HP:0011792	Neoplasm by histology	7015	TERT	ORPHA:2495
HP:0011792	Neoplasm by histology	51684	SUFU	ORPHA:2495
HP:0011792	Neoplasm by histology	6605	SMARCE1	ORPHA:2495
HP:0011792	Neoplasm by histology	4035	LRP1	ORPHA:79100
HP:0011792	Neoplasm by histology	2737	GLI3	ORPHA:672
HP:0011792	Neoplasm by histology	2737	GLI3	OMIM:146510
HP:0011792	Neoplasm by histology	8481	OFD1	OMIM:311200
HP:0011792	Neoplasm by histology	8481	OFD1	ORPHA:2754
HP:0011792	Neoplasm by histology	64601	VPS16	OMIM:619291
HP:0011792	Neoplasm by histology	4990	SIX6	OMIM:206900
HP:0011792	Neoplasm by histology	6657	SOX2	OMIM:206900
HP:0011792	Neoplasm by histology	4123	MAN2C1	OMIM:619775
HP:0011792	Neoplasm by histology	65250	CPLANE1	OMIM:277170
HP:0011792	Neoplasm by histology	65250	CPLANE1	ORPHA:2754
HP:0011792	Neoplasm by histology	7074	TIAM1	OMIM:619908
HP:0011792	Neoplasm by histology	10210	TOPORS	ORPHA:2754
HP:0011792	Neoplasm by histology	9851	KIAA0753	ORPHA:2754
HP:0011792	Neoplasm by histology	5147	PDE6D	ORPHA:2754
HP:0011792	Neoplasm by histology	51259	TMEM216	ORPHA:2754
HP:0011792	Neoplasm by histology	317662	FAM149B1	ORPHA:2754
HP:0011792	Neoplasm by histology	374654	KIF7	ORPHA:2754
HP:0011792	Neoplasm by histology	11281	POU6F2	OMIM:601583
HP:0011792	Neoplasm by histology	11281	POU6F2	ORPHA:654
HP:0011792	Neoplasm by histology	23405	DICER1	OMIM:180295
HP:0011792	Neoplasm by histology	23405	DICER1	OMIM:618272
HP:0011792	Neoplasm by histology	716	C1S	OMIM:617174
HP:0011792	Neoplasm by histology	9158	FIBP	ORPHA:500095
HP:0011792	Neoplasm by histology	9158	FIBP	OMIM:617107
HP:0011792	Neoplasm by histology	9759	HDAC4	ORPHA:1001
HP:0011792	Neoplasm by histology	5978	REST	OMIM:616806
HP:0011792	Neoplasm by histology	5978	REST	ORPHA:654
HP:0011792	Neoplasm by histology	7490	WT1	ORPHA:347
HP:0011792	Neoplasm by histology	7490	WT1	ORPHA:220
HP:0011792	Neoplasm by histology	7490	WT1	ORPHA:654
HP:0011792	Neoplasm by histology	7490	WT1	OMIM:256370
HP:0011792	Neoplasm by histology	7490	WT1	OMIM:194080
HP:0011792	Neoplasm by histology	7490	WT1	ORPHA:251510
HP:0011792	Neoplasm by histology	7490	WT1	OMIM:194072
HP:0011792	Neoplasm by histology	7490	WT1	OMIM:194070
HP:0011792	Neoplasm by histology	2132	EXT2	ORPHA:52022
HP:0011792	Neoplasm by histology	60529	ALX4	ORPHA:52022
HP:0011792	Neoplasm by histology	51317	PHF21A	ORPHA:52022
HP:0011792	Neoplasm by histology	675	BRCA2	OMIM:613029
HP:0011792	Neoplasm by histology	675	BRCA2	ORPHA:654
HP:0011792	Neoplasm by histology	675	BRCA2	OMIM:194070
HP:0011792	Neoplasm by histology	79728	PALB2	OMIM:610832
HP:0011792	Neoplasm by histology	9319	TRIP13	ORPHA:654
HP:0011792	Neoplasm by histology	9319	TRIP13	OMIM:617598
HP:0011792	Neoplasm by histology	9319	TRIP13	ORPHA:1052
HP:0011792	Neoplasm by histology	10155	TRIM28	ORPHA:654
HP:0011792	Neoplasm by histology	283120	H19	ORPHA:654
HP:0011792	Neoplasm by histology	283120	H19	ORPHA:2128
HP:0011792	Neoplasm by histology	283120	H19	OMIM:194070
HP:0011792	Neoplasm by histology	10984	KCNQ1OT1	ORPHA:2128
HP:0011792	Neoplasm by histology	10984	KCNQ1OT1	OMIM:130650
HP:0011792	Neoplasm by histology	1028	CDKN1C	OMIM:130650
HP:0011792	Neoplasm by histology	3784	KCNQ1	OMIM:130650
HP:0011792	Neoplasm by histology	3265	HRAS	ORPHA:2874
HP:0011792	Neoplasm by histology	701	BUB1B	OMIM:257300
HP:0011792	Neoplasm by histology	701	BUB1B	ORPHA:1052
HP:0011792	Neoplasm by histology	5727	PTCH1	ORPHA:77301
HP:0011792	Neoplasm by histology	641	BLM	ORPHA:125
HP:0011792	Neoplasm by histology	171023	ASXL1	ORPHA:97297
HP:0011792	Neoplasm by histology	9184	BUB3	ORPHA:1052
HP:0011792	Neoplasm by histology	699	BUB1	ORPHA:1052
HP:0011792	Neoplasm by histology	9702	CEP57	ORPHA:1052
HP:0011792	Neoplasm by histology	4591	TRIM37	OMIM:253250
HP:0011792	Neoplasm by histology	6662	SOX9	ORPHA:251510
HP:0011792	Neoplasm by histology	6845	VAMP7	ORPHA:251510
HP:0011792	Neoplasm by histology	51741	WWOX	ORPHA:251510
HP:0011792	Neoplasm by histology	4214	MAP3K1	ORPHA:251510
HP:0011792	Neoplasm by histology	2516	NR5A1	ORPHA:251510
HP:0011792	Neoplasm by histology	58524	DMRT3	ORPHA:251510
HP:0011792	Neoplasm by histology	57647	DHX37	ORPHA:251510
HP:0011792	Neoplasm by histology	6736	SRY	ORPHA:251510
HP:0011792	Neoplasm by histology	23414	ZFPM2	ORPHA:251510
HP:0011792	Neoplasm by histology	190	NR0B1	ORPHA:251510
HP:0011792	Neoplasm by histology	2626	GATA4	ORPHA:251510
HP:0011792	Neoplasm by histology	5080	PAX6	OMIM:194072
HP:0011792	Neoplasm by histology	9401	RECQL4	OMIM:268400
HP:0011792	Neoplasm by histology	9401	RECQL4	ORPHA:1225
HP:0011792	Neoplasm by histology	9401	RECQL4	ORPHA:221016
HP:0011792	Neoplasm by histology	55027	HEATR3	OMIM:620072
HP:0011792	Neoplasm by histology	6135	RPL11	ORPHA:124
HP:0011792	Neoplasm by histology	6138	RPL15	ORPHA:124
HP:0011792	Neoplasm by histology	6229	RPS24	ORPHA:124
HP:0011792	Neoplasm by histology	6125	RPL5	ORPHA:124
HP:0011792	Neoplasm by histology	6204	RPS10	ORPHA:124
HP:0011792	Neoplasm by histology	6224	RPS20	ORPHA:124
HP:0011792	Neoplasm by histology	6165	RPL35A	ORPHA:124
HP:0011792	Neoplasm by histology	2623	GATA1	ORPHA:124
HP:0011792	Neoplasm by histology	6223	RPS19	ORPHA:124
HP:0011792	Neoplasm by histology	6223	RPS19	OMIM:105650
HP:0011792	Neoplasm by histology	6232	RPS27	ORPHA:124
HP:0011792	Neoplasm by histology	6231	RPS26	ORPHA:124
HP:0011792	Neoplasm by histology	11224	RPL35	ORPHA:124
HP:0011792	Neoplasm by histology	6160	RPL31	ORPHA:124
HP:0011792	Neoplasm by histology	6218	RPS17	ORPHA:124
HP:0011792	Neoplasm by histology	6201	RPS7	ORPHA:124
HP:0011792	Neoplasm by histology	6155	RPL27	ORPHA:124
HP:0011792	Neoplasm by histology	6154	RPL26	ORPHA:124
HP:0011792	Neoplasm by histology	6210	RPS15A	ORPHA:124
HP:0011792	Neoplasm by histology	90121	TSR2	ORPHA:124
HP:0011792	Neoplasm by histology	6141	RPL18	ORPHA:124
HP:0011792	Neoplasm by histology	6235	RPS29	ORPHA:124
HP:0011792	Neoplasm by histology	6234	RPS28	ORPHA:124
HP:0011792	Neoplasm by histology	51816	ADA2	ORPHA:124
HP:0011792	Neoplasm by histology	4507	MTAP	OMIM:112250
HP:0011792	Neoplasm by histology	7157	TP53	OMIM:151623
HP:0011792	Neoplasm by histology	7157	TP53	OMIM:260500
HP:0011792	Neoplasm by histology	7157	TP53	ORPHA:524
HP:0011792	Neoplasm by histology	7157	TP53	OMIM:259500
HP:0011792	Neoplasm by histology	8878	SQSTM1	OMIM:167250
HP:0011792	Neoplasm by histology	7486	WRN	OMIM:277700
HP:0011792	Neoplasm by histology	4000	LMNA	ORPHA:79474
HP:0011792	Neoplasm by histology	1029	CDKN2A	ORPHA:524
HP:0011792	Neoplasm by histology	4193	MDM2	ORPHA:524
HP:0011792	Neoplasm by histology	11200	CHEK2	ORPHA:524
HP:0011792	Neoplasm by histology	11200	CHEK2	OMIM:259500
HP:0011792	Neoplasm by histology	64682	ANAPC1	ORPHA:221008
HP:0011792	Neoplasm by histology	7298	TYMS	OMIM:620040
HP:0011792	Neoplasm by histology	54894	RNF43	ORPHA:157798
HP:0011792	Neoplasm by histology	284058	KANSL1	ORPHA:363958
HP:0011792	Neoplasm by histology	284058	KANSL1	ORPHA:363965
HP:0011792	Neoplasm by histology	388662	SLC6A17	ORPHA:457212
HP:0011792	Neoplasm by histology	285282	RABL3	OMIM:618680
HP:0011792	Neoplasm by histology	285282	RABL3	ORPHA:1333
HP:0011792	Neoplasm by histology	1643	DDB2	OMIM:278740
HP:0011792	Neoplasm by histology	1643	DDB2	ORPHA:910
HP:0011792	Neoplasm by histology	2074	ERCC6	OMIM:278800
HP:0011792	Neoplasm by histology	5781	PTPN11	ORPHA:500
HP:0011792	Neoplasm by histology	5894	RAF1	ORPHA:500
HP:0011792	Neoplasm by histology	7507	XPA	OMIM:278700
HP:0011792	Neoplasm by histology	7507	XPA	ORPHA:910
HP:0011792	Neoplasm by histology	7373	COL14A1	ORPHA:79501
HP:0011792	Neoplasm by histology	79719	AAGAB	ORPHA:79501
HP:0011792	Neoplasm by histology	672	BRCA1	ORPHA:145
HP:0011792	Neoplasm by histology	672	BRCA1	ORPHA:1333
HP:0011792	Neoplasm by histology	5892	RAD51D	ORPHA:145
HP:0011792	Neoplasm by histology	10111	RAD50	ORPHA:145
HP:0011792	Neoplasm by histology	580	BARD1	ORPHA:145
HP:0011792	Neoplasm by histology	5888	RAD51	ORPHA:145
HP:0011792	Neoplasm by histology	5889	RAD51C	ORPHA:145
HP:0011792	Neoplasm by histology	83990	BRIP1	ORPHA:145
HP:0011792	Neoplasm by histology	4361	MRE11	ORPHA:145
HP:0011792	Neoplasm by histology	23022	PALLD	ORPHA:1333
HP:0011792	Neoplasm by histology	2068	ERCC2	ORPHA:220295
HP:0011792	Neoplasm by histology	2068	ERCC2	OMIM:278730
HP:0011792	Neoplasm by histology	2068	ERCC2	ORPHA:910
HP:0011792	Neoplasm by histology	2073	ERCC5	ORPHA:220295
HP:0011792	Neoplasm by histology	2073	ERCC5	ORPHA:910
HP:0011792	Neoplasm by histology	2072	ERCC4	ORPHA:220295
HP:0011792	Neoplasm by histology	2072	ERCC4	ORPHA:910
HP:0011792	Neoplasm by histology	4255	MGMT	ORPHA:618
HP:0011792	Neoplasm by histology	54386	TERF2IP	ORPHA:618
HP:0011792	Neoplasm by histology	65057	ACD	ORPHA:618
HP:0011792	Neoplasm by histology	51360	MBTPS2	ORPHA:659
HP:0011792	Neoplasm by histology	162514	TRPV3	ORPHA:659
HP:0011792	Neoplasm by histology	64065	PERP	ORPHA:659
HP:0011792	Neoplasm by histology	7299	TYR	ORPHA:79434
HP:0011792	Neoplasm by histology	1075	CTSC	ORPHA:678
HP:0011792	Neoplasm by histology	9652	SKIC3	ORPHA:84064
HP:0011792	Neoplasm by histology	6499	SKIC2	ORPHA:84064
HP:0011792	Neoplasm by histology	6597	SMARCA4	ORPHA:1465
HP:0011792	Neoplasm by histology	6659	SOX4	ORPHA:1465
HP:0011792	Neoplasm by histology	8289	ARID1A	ORPHA:1465
HP:0011792	Neoplasm by histology	5977	DPF2	ORPHA:1465
HP:0011792	Neoplasm by histology	6601	SMARCC2	ORPHA:1465
HP:0011792	Neoplasm by histology	6602	SMARCD1	ORPHA:1465
HP:0011792	Neoplasm by histology	57492	ARID1B	ORPHA:1465
HP:0011792	Neoplasm by histology	196528	ARID2	ORPHA:1465
HP:0011792	Neoplasm by histology	6664	SOX11	ORPHA:1465
HP:0011792	Neoplasm by histology	388015	RTL1	ORPHA:96334
HP:0011792	Neoplasm by histology	8788	DLK1	ORPHA:96334
HP:0011792	Neoplasm by histology	55384	MEG3	ORPHA:96334
HP:0011792	Neoplasm by histology	199221	DZIP1L	ORPHA:731
HP:0011792	Neoplasm by histology	5314	PKHD1	ORPHA:731
HP:0011792	Neoplasm by histology	2542	SLC37A4	OMIM:232240
HP:0011792	Neoplasm by histology	1026	CDKN1A	ORPHA:652
HP:0011792	Neoplasm by histology	1030	CDKN2B	ORPHA:652
HP:0011792	Neoplasm by histology	1031	CDKN2C	ORPHA:652
HP:0011792	Neoplasm by histology	65998	ZFTA	ORPHA:251636
HP:0011792	Neoplasm by histology	5970	RELA	ORPHA:251636
HP:0011792	Neoplasm by histology	6714	SRC	OMIM:114500
HP:0011792	Neoplasm by histology	10395	DLC1	OMIM:114500
HP:0011792	Neoplasm by histology	8313	AXIN2	OMIM:114500
HP:0011792	Neoplasm by histology	2033	EP300	OMIM:114500
HP:0011792	Neoplasm by histology	5782	PTPN12	OMIM:114500
HP:0011792	Neoplasm by histology	5320	PLA2G2A	OMIM:114500
HP:0011792	Neoplasm by histology	6790	AURKA	OMIM:114500
HP:0011792	Neoplasm by histology	1630	DCC	OMIM:114500
HP:0011792	Neoplasm by histology	581	BAX	OMIM:114500
HP:0011792	Neoplasm by histology	25788	RAD54B	OMIM:114500
HP:0011792	Neoplasm by histology	595	CCND1	OMIM:114500
HP:0011792	Neoplasm by histology	7097	TLR2	OMIM:114500
HP:0011792	Neoplasm by histology	1499	CTNNB1	OMIM:114500
HP:0011792	Neoplasm by histology	4163	MCC	OMIM:114500
HP:0011792	Neoplasm by histology	5157	PDGFRL	OMIM:114500
HP:0011792	Neoplasm by histology	5795	PTPRJ	OMIM:114500
HP:0011792	Neoplasm by histology	2719	GPC3	OMIM:312870
HP:0011792	Neoplasm by histology	2239	GPC4	OMIM:312870
HP:0011792	Neoplasm by histology	8915	BCL10	OMIM:273300
HP:0011792	Neoplasm by histology	3815	KIT	OMIM:273300
HP:0011792	Neoplasm by histology	2261	FGFR3	OMIM:273300
HP:0011792	Neoplasm by histology	7528	YY1	ORPHA:506358
HP:0011792	Neoplasm by histology	5590	PRKCZ	ORPHA:1606
HP:0011792	Neoplasm by histology	2563	GABRD	ORPHA:1606
HP:0011792	Neoplasm by histology	23013	SPEN	ORPHA:1606
HP:0011792	Neoplasm by histology	8510	MMP23B	ORPHA:1606
HP:0011792	Neoplasm by histology	7798	LUZP1	ORPHA:1606
HP:0011792	Neoplasm by histology	6497	SKI	ORPHA:1606
HP:0011792	Neoplasm by histology	10630	PDPN	ORPHA:1606
HP:0011792	Neoplasm by histology	3339	HSPG2	ORPHA:1606
HP:0011792	Neoplasm by histology	10277	UBE4B	ORPHA:1606
HP:0011792	Neoplasm by histology	8514	KCNAB2	ORPHA:1606
HP:0011792	Neoplasm by histology	473	RERE	ORPHA:1606
HP:0011792	Neoplasm by histology	63976	PRDM16	ORPHA:1606
HP:0011792	Neoplasm by histology	54897	CASZ1	ORPHA:1606
HP:0011792	Neoplasm by histology	861	RUNX1	OMIM:601399
HP:0011792	Neoplasm by histology	429	ASCL1	ORPHA:99803
HP:0011792	Neoplasm by histology	4437	MSH3	ORPHA:480536
HP:0011792	Neoplasm by histology	4089	SMAD4	OMIM:175050
HP:0011792	Neoplasm by histology	5002	SLC22A18	OMIM:268210
HP:0011792	Neoplasm by histology	8929	PHOX2B	OMIM:613013
HP:0011792	Neoplasm by histology	8929	PHOX2B	ORPHA:661
HP:0011792	Neoplasm by histology	8929	PHOX2B	ORPHA:2151
HP:0011792	Neoplasm by histology	8929	PHOX2B	OMIM:209880
HP:0011792	Neoplasm by histology	1908	EDN3	ORPHA:661
HP:0011792	Neoplasm by histology	2668	GDNF	ORPHA:661
HP:0011792	Neoplasm by histology	627	BDNF	ORPHA:661
HP:0011792	Neoplasm by histology	283446	MYO1H	ORPHA:661
HP:0011792	Neoplasm by histology	23095	KIF1B	OMIM:256700
HP:0011792	Neoplasm by histology	2271	FH	OMIM:150800
HP:0011792	Neoplasm by histology	201163	FLCN	OMIM:135150
HP:0011792	Neoplasm by histology	2131	EXT1	ORPHA:321
HP:0011792	Neoplasm by histology	2131	EXT1	OMIM:133700
HP:0011792	Neoplasm by histology	2131	EXT1	OMIM:215300
HP:0011792	Neoplasm by histology	8148	TAF15	OMIM:612237
HP:0011792	Neoplasm by histology	8013	NR4A3	OMIM:612237
HP:0011792	Neoplasm by histology	203068	TUBB	ORPHA:2505
HP:0011792	Neoplasm by histology	203068	TUBB	OMIM:156610
HP:0011792	Neoplasm by histology	10982	MAPRE2	ORPHA:2505
HP:0011792	Neoplasm by histology	4598	MVK	OMIM:260920
HP:0011792	Neoplasm by histology	5081	PAX7	OMIM:268220
HP:0011792	Neoplasm by histology	2308	FOXO1	OMIM:268220
HP:0011792	Neoplasm by histology	5077	PAX3	OMIM:268220
HP:0011792	Neoplasm by histology	8314	BAP1	OMIM:614327
HP:0011792	Neoplasm by histology	8314	BAP1	OMIM:606661
HP:0011792	Neoplasm by histology	8930	MBD4	OMIM:619975
HP:0011792	Neoplasm by histology	8930	MBD4	OMIM:606660
HP:0011792	Neoplasm by histology	6794	STK11	OMIM:155600
HP:0011792	Neoplasm by histology	673	BRAF	OMIM:155600
HP:0011792	Neoplasm by histology	129563	DIS3L2	OMIM:267000
HP:0011792	Neoplasm by histology	168667	BMPER	OMIM:608022
HP:0011792	Neoplasm by histology	2260	FGFR1	OMIM:613001
HP:0011792	Neoplasm by histology	7428	VHL	ORPHA:892
HP:0011792	Neoplasm by histology	7428	VHL	ORPHA:29072
HP:0011792	Neoplasm by histology	7428	VHL	OMIM:193300
HP:0011792	Neoplasm by histology	1743	DLST	ORPHA:29072
HP:0011792	Neoplasm by histology	4191	MDH2	ORPHA:29072
HP:0011792	Neoplasm by histology	5979	RET	ORPHA:29072
HP:0011792	Neoplasm by histology	6389	SDHA	ORPHA:29072
HP:0011792	Neoplasm by histology	8402	SLC25A11	ORPHA:29072
HP:0011792	Neoplasm by histology	54949	SDHAF2	ORPHA:29072
HP:0011792	Neoplasm by histology	55654	TMEM127	ORPHA:29072
HP:0011792	Neoplasm by histology	4149	MAX	ORPHA:29072
HP:0011792	Neoplasm by histology	2639	GCDH	ORPHA:25
HP:0011792	Neoplasm by histology	5333	PLCD1	ORPHA:2387
HP:0011792	Neoplasm by histology	4221	MEN1	OMIM:131100
HP:0011792	Neoplasm by histology	3872	KRT17	ORPHA:841
HP:0011792	Neoplasm by histology	4292	MLH1	OMIM:276300
HP:0011792	Neoplasm by histology	25913	POT1	OMIM:616568
HP:0011792	Neoplasm by histology	4683	NBN	OMIM:251260
HP:0011792	Neoplasm by histology	4683	NBN	ORPHA:647
HP:0011792	Neoplasm by histology	2956	MSH6	OMIM:619097
HP:0011792	Neoplasm by histology	7020	TFAP2A	OMIM:113620
HP:0011792	Neoplasm by histology	90	ACVR1	OMIM:135100
HP:0011792	Neoplasm by histology	51626	DYNC2LI1	OMIM:617088
HP:0011792	Neoplasm by histology	79577	CDC73	OMIM:145001
HP:0011792	Neoplasm by histology	91754	NEK9	ORPHA:64754
HP:0011792	Neoplasm by histology	60	ACTB	ORPHA:64755
HP:0011792	Neoplasm by histology	100144748	KLLN	OMIM:615107
HP:0011792	Neoplasm by histology	26123	TCTN3	ORPHA:2753
HP:0011792	Neoplasm by histology	207	AKT1	ORPHA:744
HP:0011792	Neoplasm by histology	1288	COL4A6	ORPHA:1018
HP:0011792	Neoplasm by histology	1287	COL4A5	ORPHA:1018
HP:0011792	Neoplasm by histology	3572	IL6ST	OMIM:619750
HP:0011792	Neoplasm by histology	5618	PRLR	OMIM:615554
HP:0011792	Neoplasm by histology	5566	PRKACA	ORPHA:189439
HP:0011792	Neoplasm by histology	8622	PDE8B	ORPHA:189439
HP:0011792	Neoplasm by histology	355	FAS	ORPHA:3261
HP:0011792	Neoplasm by histology	356	FASLG	ORPHA:3261
HP:0011792	Neoplasm by histology	5580	PRKCD	ORPHA:3261
HP:0011792	Neoplasm by histology	843	CASP10	ORPHA:3261
HP:0011792	Neoplasm by histology	10125	RASGRP1	ORPHA:3261
HP:0011792	Neoplasm by histology	5925	RB1	OMIM:180200
HP:0011792	Neoplasm by histology	2248	FGF3	ORPHA:2791
HP:0011792	Neoplasm by histology	57105	CYSLTR2	ORPHA:39044
HP:0011792	Neoplasm by histology	2776	GNAQ	ORPHA:39044
HP:0011792	Neoplasm by histology	2767	GNA11	ORPHA:39044
HP:0011792	Neoplasm by histology	23451	SF3B1	ORPHA:39044
HP:0011792	Neoplasm by histology	1308	COL17A1	ORPHA:79406
HP:0011792	Neoplasm by histology	4312	MMP1	ORPHA:79408
HP:0011792	Neoplasm by histology	1294	COL7A1	ORPHA:79408
HP:0011792	Neoplasm by histology	1294	COL7A1	ORPHA:79409
HP:0011792	Neoplasm by histology	1294	COL7A1	ORPHA:79410
HP:0011792	Neoplasm by histology	1294	COL7A1	ORPHA:79411
HP:0011792	Neoplasm by histology	4893	NRAS	OMIM:137550
HP:0011792	Neoplasm by histology	4893	NRAS	ORPHA:626
HP:0011792	Neoplasm by histology	7852	CXCR4	ORPHA:51636
HP:0011792	Neoplasm by histology	4286	MITF	OMIM:614456
HP:0011792	Neoplasm by histology	5429	POLH	OMIM:278750
HP:0011792	Neoplasm by histology	2071	ERCC3	OMIM:610651
HP:0011792	Neoplasm by histology	4157	MC1R	ORPHA:626
HP:0011792	Neoplasm by histology	4157	MC1R	ORPHA:79432
HP:0011792	Neoplasm by histology	1019	CDK4	OMIM:609048
HP:0011792	Neoplasm by histology	4948	OCA2	ORPHA:79432
HP:0011792	Neoplasm by histology	7508	XPC	OMIM:278720
HP:0011792	Neoplasm by histology	64218	SEMA4A	ORPHA:440437
HP:0011792	Neoplasm by histology	4072	EPCAM	ORPHA:144
HP:0011792	Neoplasm by histology	5395	PMS2	ORPHA:144
HP:0011792	Neoplasm by histology	5395	PMS2	OMIM:619101
HP:0011792	Neoplasm by histology	27030	MLH3	ORPHA:144
HP:0011792	Neoplasm by histology	22909	FAN1	ORPHA:144
HP:0011792	Neoplasm by histology	7048	TGFBR2	ORPHA:144
HP:0011792	Neoplasm by histology	3845	KRAS	ORPHA:144
HP:0011792	Neoplasm by histology	5378	PMS1	ORPHA:144
HP:0011792	Neoplasm by histology	4436	MSH2	ORPHA:144
HP:0011792	Neoplasm by histology	4436	MSH2	OMIM:619096
HP:0011792	Neoplasm by histology	2064	ERBB2	OMIM:137800
HP:0011792	Neoplasm by histology	3417	IDH1	OMIM:137800
HP:0011792	Neoplasm by histology	657	BMPR1A	OMIM:610069
HP:0011792	Neoplasm by histology	657	BMPR1A	ORPHA:157794
HP:0011792	Neoplasm by histology	26585	GREM1	ORPHA:157794
HP:0011792	Neoplasm by histology	79058	ASPSCR1	OMIM:606243
HP:0011792	Neoplasm by histology	2130	EWSR1	OMIM:612219
HP:0011792	Neoplasm by histology	23476	BRD4	ORPHA:443167
HP:0011792	Neoplasm by histology	256646	NUTM1	ORPHA:443167
HP:0011792	Neoplasm by histology	1385	CREB1	OMIM:612160
HP:0011792	Neoplasm by histology	6757	SSX2	OMIM:300813
HP:0011792	Neoplasm by histology	2316	FLNA	ORPHA:88630
HP:0011792	Neoplasm by histology	5573	PRKAR1A	ORPHA:1359
HP:0011792	Neoplasm by histology	50940	PDE11A	ORPHA:1359
HP:0011792	Neoplasm by histology	3481	IGF2	OMIM:180860
HP:0011792	Neoplasm by histology	2313	FLI1	ORPHA:370348
HP:0011792	Neoplasm by histology	9817	KEAP1	ORPHA:276399
HP:0011792	Neoplasm by histology	89970	RSPRY1	ORPHA:457395
HP:0011792	Neoplasm by histology	22861	NLRP1	OMIM:615225
HP:0011792	Neoplasm by histology	5728	PTEN	OMIM:158350
HP:0011792	Neoplasm by histology	324	APC	OMIM:175100
HP:0011792	Neoplasm by histology	284654	RSPO1	OMIM:610644
HP:0011792	Neoplasm by histology	1027	CDKN1B	OMIM:610755
HP:0011792	Neoplasm by histology	1736	DKC1	OMIM:305000
HP:0011792	Neoplasm by histology	5426	POLE	OMIM:615083
HP:0011792	Neoplasm by histology	3110	MNX1	ORPHA:1552
HP:0011792	Neoplasm by histology	26040	SETBP1	OMIM:269150
HP:0011792	Neoplasm by histology	26040	SETBP1	ORPHA:798
HP:0011792	Neoplasm by histology	64324	NSD1	ORPHA:821
HP:0011792	Neoplasm by histology	29072	SETD2	ORPHA:821
HP:0011792	Neoplasm by histology	10297	APC2	ORPHA:821
HP:0011792	Neoplasm by histology	5745	PTH1R	ORPHA:296
HP:0011792	Neoplasm by histology	3418	IDH2	ORPHA:296
HP:0011792	Neoplasm by histology	3418	IDH2	ORPHA:163634
HP:0011792	Neoplasm by histology	5156	PDGFRA	ORPHA:44890
HP:0011792	Neoplasm by histology	8200	GDF5	ORPHA:2098
HP:0011792	Neoplasm by histology	658	BMPR1B	ORPHA:2098
HP:0011792	Neoplasm by histology	2778	GNAS	ORPHA:2762
HP:0011792	Neoplasm by histology	2303	FOXC2	ORPHA:33001
HP:0011792	Neoplasm by histology	1277	COL1A1	ORPHA:31112
HP:0011792	Neoplasm by histology	4595	MUTYH	ORPHA:247798
HP:0011792	Neoplasm by histology	5604	MAP2K1	OMIM:163950
HP:0011792	Neoplasm by histology	3858	KRT10	ORPHA:312
HP:0011792	Neoplasm by histology	3848	KRT1	ORPHA:312
HP:0011792	Neoplasm by histology	10483	SEC23B	ORPHA:201
HP:0011792	Neoplasm by histology	6392	SDHD	ORPHA:201
HP:0011792	Neoplasm by histology	205717	USF3	ORPHA:201
HP:0011792	Neoplasm by histology	3458	IFNG	ORPHA:805
HP:0011792	Neoplasm by histology	7248	TSC1	ORPHA:805
HP:0011792	Neoplasm by histology	7248	TSC1	ORPHA:538
HP:0011792	Neoplasm by histology	7249	TSC2	ORPHA:805
HP:0011792	Neoplasm by histology	7249	TSC2	ORPHA:538
HP:0011792	Neoplasm by histology	2324	FLT4	ORPHA:79452
HP:0011792	Neoplasm by histology	57165	GJC2	ORPHA:79452
HP:0011792	Neoplasm by histology	2050	EPHB4	ORPHA:90186
HP:0011793	Neoplasm by anatomical site	4214	MAP3K1	OMIM:613762
HP:0011793	Neoplasm by anatomical site	4214	MAP3K1	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	6736	SRY	ORPHA:1772
HP:0011793	Neoplasm by anatomical site	6736	SRY	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	6736	SRY	OMIM:400044
HP:0011793	Neoplasm by anatomical site	6662	SOX9	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	6845	VAMP7	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	51741	WWOX	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	2516	NR5A1	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	7490	WT1	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	7490	WT1	OMIM:194072
HP:0011793	Neoplasm by anatomical site	7490	WT1	ORPHA:347
HP:0011793	Neoplasm by anatomical site	58524	DMRT3	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	57647	DHX37	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	23414	ZFPM2	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	190	NR0B1	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	2626	GATA4	ORPHA:251510
HP:0011793	Neoplasm by anatomical site	5080	PAX6	OMIM:194072
HP:0011793	Neoplasm by anatomical site	50846	DHH	OMIM:233420
HP:0011793	Neoplasm by anatomical site	50846	DHH	ORPHA:168563
HP:0011793	Neoplasm by anatomical site	9897	WASHC5	ORPHA:7
HP:0011793	Neoplasm by anatomical site	28952	CCDC22	ORPHA:7
HP:0011793	Neoplasm by anatomical site	5500	PPP1CB	OMIM:617506
HP:0011793	Neoplasm by anatomical site	79644	SRD5A3	OMIM:612713
HP:0011793	Neoplasm by anatomical site	246329	STAC3	ORPHA:168572
HP:0011793	Neoplasm by anatomical site	1717	DHCR7	OMIM:270400
HP:0011793	Neoplasm by anatomical site	1717	DHCR7	ORPHA:818
HP:0011793	Neoplasm by anatomical site	80036	TRPM3	OMIM:620224
HP:0011793	Neoplasm by anatomical site	9939	RBM8A	OMIM:274000
HP:0011793	Neoplasm by anatomical site	4558	MT-TF	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4567	MT-TL1	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4549	MT-RNR1	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4574	MT-TS1	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4575	MT-TS2	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4571	MT-TP	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4572	MT-TQ	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4540	MT-ND5	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4566	MT-TK	ORPHA:551
HP:0011793	Neoplasm by anatomical site	4566	MT-TK	ORPHA:1349
HP:0011793	Neoplasm by anatomical site	4564	MT-TH	ORPHA:551
HP:0011793	Neoplasm by anatomical site	55154	MSTO1	OMIM:617675
HP:0011793	Neoplasm by anatomical site	9927	MFN2	ORPHA:2398
HP:0011793	Neoplasm by anatomical site	57216	VANGL2	OMIM:182940
HP:0011793	Neoplasm by anatomical site	6347	CCL2	OMIM:182940
HP:0011793	Neoplasm by anatomical site	81839	VANGL1	OMIM:182940
HP:0011793	Neoplasm by anatomical site	6862	TBXT	OMIM:182940
HP:0011793	Neoplasm by anatomical site	80199	FUZ	OMIM:182940
HP:0011793	Neoplasm by anatomical site	284252	KCTD1	OMIM:181270
HP:0011793	Neoplasm by anatomical site	1175	AP2S1	OMIM:600740
HP:0011793	Neoplasm by anatomical site	5167	ENPP1	ORPHA:758
HP:0011793	Neoplasm by anatomical site	368	ABCC6	ORPHA:758
HP:0011793	Neoplasm by anatomical site	8036	SHOC2	OMIM:607721
HP:0011793	Neoplasm by anatomical site	23013	SPEN	OMIM:619312
HP:0011793	Neoplasm by anatomical site	8367	H4C5	OMIM:619950
HP:0011793	Neoplasm by anatomical site	23135	KDM6B	OMIM:618505
HP:0011793	Neoplasm by anatomical site	284058	KANSL1	ORPHA:363965
HP:0011793	Neoplasm by anatomical site	284058	KANSL1	ORPHA:363958
HP:0011793	Neoplasm by anatomical site	11235	PDCD10	ORPHA:221061
HP:0011793	Neoplasm by anatomical site	83605	CCM2	ORPHA:221061
HP:0011793	Neoplasm by anatomical site	889	KRIT1	ORPHA:221061
HP:0011793	Neoplasm by anatomical site	2324	FLT4	OMIM:153100
HP:0011793	Neoplasm by anatomical site	2050	EPHB4	ORPHA:137667
HP:0011793	Neoplasm by anatomical site	5921	RASA1	ORPHA:137667
HP:0011793	Neoplasm by anatomical site	5476	CTSA	OMIM:256540
HP:0011793	Neoplasm by anatomical site	28514	DLL1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	2253	FGF8	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	6496	SIX3	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	7050	TGIF1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	4838	NODAL	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	6469	SHH	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	7546	ZIC2	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	2619	GAS1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	84976	DISP1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	2736	GLI2	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	8928	FOXH1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	5727	PTCH1	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	50937	CDON	ORPHA:280200
HP:0011793	Neoplasm by anatomical site	8813	DPM1	OMIM:608799
HP:0011793	Neoplasm by anatomical site	5745	PTH1R	ORPHA:296
HP:0011793	Neoplasm by anatomical site	57492	ARID1B	OMIM:135900
HP:0011793	Neoplasm by anatomical site	10082	GPC6	OMIM:258315
HP:0011793	Neoplasm by anatomical site	340665	CYP26C1	ORPHA:398189
HP:0011793	Neoplasm by anatomical site	23219	FBXO28	OMIM:619777
HP:0011793	Neoplasm by anatomical site	55109	AGGF1	ORPHA:90308
HP:0011793	Neoplasm by anatomical site	23592	LEMD3	ORPHA:1306
HP:0011793	Neoplasm by anatomical site	10312	TCIRG1	ORPHA:486
HP:0011793	Neoplasm by anatomical site	1991	ELANE	ORPHA:486
HP:0011793	Neoplasm by anatomical site	2672	GFI1	ORPHA:486
HP:0011793	Neoplasm by anatomical site	6729	SRP54	ORPHA:486
HP:0011793	Neoplasm by anatomical site	81570	CLPB	ORPHA:486
HP:0011793	Neoplasm by anatomical site	10943	MSL3	OMIM:301032
HP:0011793	Neoplasm by anatomical site	10815	CPLX1	ORPHA:280
HP:0011793	Neoplasm by anatomical site	10815	CPLX1	OMIM:194190
HP:0011793	Neoplasm by anatomical site	54872	PIGG	ORPHA:280
HP:0011793	Neoplasm by anatomical site	7469	NELFA	ORPHA:280
HP:0011793	Neoplasm by anatomical site	1487	CTBP1	ORPHA:280
HP:0011793	Neoplasm by anatomical site	1487	CTBP1	OMIM:194190
HP:0011793	Neoplasm by anatomical site	3954	LETM1	ORPHA:280
HP:0011793	Neoplasm by anatomical site	3954	LETM1	OMIM:194190
HP:0011793	Neoplasm by anatomical site	7468	NSD2	ORPHA:280
HP:0011793	Neoplasm by anatomical site	7468	NSD2	OMIM:194190
HP:0011793	Neoplasm by anatomical site	2475	MTOR	ORPHA:457485
HP:0011793	Neoplasm by anatomical site	7020	TFAP2A	ORPHA:1297
HP:0011793	Neoplasm by anatomical site	84168	ANTXR1	ORPHA:2067
HP:0011793	Neoplasm by anatomical site	53834	FGFRL1	OMIM:194190
HP:0011793	Neoplasm by anatomical site	2260	FGFR1	OMIM:613001
HP:0011793	Neoplasm by anatomical site	2658	GDF2	ORPHA:774
HP:0011793	Neoplasm by anatomical site	94	ACVRL1	ORPHA:774
HP:0011793	Neoplasm by anatomical site	2022	ENG	ORPHA:774
HP:0011793	Neoplasm by anatomical site	10483	SEC23B	ORPHA:201
HP:0011793	Neoplasm by anatomical site	5728	PTEN	ORPHA:201
HP:0011793	Neoplasm by anatomical site	205717	USF3	ORPHA:201
HP:0011793	Neoplasm by anatomical site	100144748	KLLN	ORPHA:201
HP:0011793	Neoplasm by anatomical site	3265	HRAS	ORPHA:2612
HP:0011793	Neoplasm by anatomical site	3845	KRAS	ORPHA:2612
HP:0011793	Neoplasm by anatomical site	3845	KRAS	ORPHA:1340
HP:0011793	Neoplasm by anatomical site	7010	TEK	ORPHA:1059
HP:0011793	Neoplasm by anatomical site	4851	NOTCH1	OMIM:616028
HP:0011793	Neoplasm by anatomical site	5604	MAP2K1	ORPHA:1340
HP:0011793	Neoplasm by anatomical site	5605	MAP2K2	ORPHA:1340
HP:0011793	Neoplasm by anatomical site	79158	GNPTAB	OMIM:252500
HP:0011793	Neoplasm by anatomical site	55901	THSD1	OMIM:620244
HP:0011793	Neoplasm by anatomical site	274	BIN1	ORPHA:169189
HP:0011793	Neoplasm by anatomical site	64419	MTMR14	ORPHA:169189
HP:0011793	Neoplasm by anatomical site	4618	MYF6	ORPHA:169189
HP:0011793	Neoplasm by anatomical site	1785	DNM2	ORPHA:169189
HP:0011793	Neoplasm by anatomical site	6261	RYR1	ORPHA:169189
HP:0011793	Neoplasm by anatomical site	3239	HOXD13	ORPHA:887
HP:0011793	Neoplasm by anatomical site	3417	IDH1	ORPHA:99646
HP:0011793	Neoplasm by anatomical site	6711	SPTBN1	OMIM:619475
HP:0011793	Neoplasm by anatomical site	161742	SPRED1	OMIM:611431
HP:0011793	Neoplasm by anatomical site	161742	SPRED1	ORPHA:137605
HP:0011793	Neoplasm by anatomical site	4771	NF2	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	6598	SMARCB1	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	5155	PDGFB	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	84231	TRAF7	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	6608	SMO	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	51684	SUFU	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	6605	SMARCE1	ORPHA:2495
HP:0011793	Neoplasm by anatomical site	4035	LRP1	ORPHA:79100
HP:0011793	Neoplasm by anatomical site	2535	FZD2	OMIM:164745
HP:0011793	Neoplasm by anatomical site	22800	RRAS2	OMIM:618624
HP:0011793	Neoplasm by anatomical site	6909	TBX2	OMIM:618223
HP:0011793	Neoplasm by anatomical site	695	BTK	OMIM:300755
HP:0011793	Neoplasm by anatomical site	5265	SERPINA1	OMIM:613490
HP:0011793	Neoplasm by anatomical site	3043	HBB	ORPHA:231214
HP:0011793	Neoplasm by anatomical site	3043	HBB	ORPHA:231222
HP:0011793	Neoplasm by anatomical site	3043	HBB	ORPHA:231226
HP:0011793	Neoplasm by anatomical site	83932	SPRTN	OMIM:616200
HP:0011793	Neoplasm by anatomical site	9414	TJP2	OMIM:615878
HP:0011793	Neoplasm by anatomical site	2153	F5	OMIM:600880
HP:0011793	Neoplasm by anatomical site	3594	IL12RB1	ORPHA:186
HP:0011793	Neoplasm by anatomical site	23534	TNPO3	ORPHA:186
HP:0011793	Neoplasm by anatomical site	3592	IL12A	ORPHA:186
HP:0011793	Neoplasm by anatomical site	6689	SPIB	ORPHA:186
HP:0011793	Neoplasm by anatomical site	5450	POU2AF1	ORPHA:186
HP:0011793	Neoplasm by anatomical site	9966	TNFSF15	ORPHA:186
HP:0011793	Neoplasm by anatomical site	79258	MMEL1	ORPHA:186
HP:0011793	Neoplasm by anatomical site	3663	IRF5	ORPHA:186
HP:0011793	Neoplasm by anatomical site	6514	SLC2A2	ORPHA:2088
HP:0011793	Neoplasm by anatomical site	3145	HMBS	OMIM:176000
HP:0011793	Neoplasm by anatomical site	3145	HMBS	ORPHA:79276
HP:0011793	Neoplasm by anatomical site	540	ATP7B	OMIM:277900
HP:0011793	Neoplasm by anatomical site	10165	SLC25A13	OMIM:603471
HP:0011793	Neoplasm by anatomical site	10165	SLC25A13	ORPHA:247585
HP:0011793	Neoplasm by anatomical site	8647	ABCB11	OMIM:601847
HP:0011793	Neoplasm by anatomical site	2538	G6PC1	OMIM:232200
HP:0011793	Neoplasm by anatomical site	4358	MPV17	OMIM:256810
HP:0011793	Neoplasm by anatomical site	654	BMP6	ORPHA:465508
HP:0011793	Neoplasm by anatomical site	3077	HFE	ORPHA:465508
HP:0011793	Neoplasm by anatomical site	3077	HFE	OMIM:176100
HP:0011793	Neoplasm by anatomical site	3077	HFE	OMIM:235200
HP:0011793	Neoplasm by anatomical site	2184	FAH	OMIM:276700
HP:0011793	Neoplasm by anatomical site	2184	FAH	ORPHA:882
HP:0011793	Neoplasm by anatomical site	5836	PYGL	ORPHA:369
HP:0011793	Neoplasm by anatomical site	191	AHCY	ORPHA:88618
HP:0011793	Neoplasm by anatomical site	8312	AXIN1	OMIM:114550
HP:0011793	Neoplasm by anatomical site	3482	IGF2R	OMIM:114550
HP:0011793	Neoplasm by anatomical site	55340	GIMAP5	OMIM:619463
HP:0011793	Neoplasm by anatomical site	7289	TULP3	OMIM:619902
HP:0011793	Neoplasm by anatomical site	1371	CPOX	ORPHA:79273
HP:0011793	Neoplasm by anatomical site	7389	UROD	OMIM:176100
HP:0011793	Neoplasm by anatomical site	5498	PPOX	ORPHA:79473
HP:0011793	Neoplasm by anatomical site	650	BMP2	OMIM:235200
HP:0011793	Neoplasm by anatomical site	2177	FANCD2	OMIM:227646
HP:0011793	Neoplasm by anatomical site	2176	FANCC	OMIM:227645
HP:0011793	Neoplasm by anatomical site	2189	FANCG	OMIM:614082
HP:0011793	Neoplasm by anatomical site	8294	H4C9	OMIM:619951
HP:0011793	Neoplasm by anatomical site	6335	SCN9A	ORPHA:90026
HP:0011793	Neoplasm by anatomical site	11280	SCN11A	ORPHA:90026
HP:0011793	Neoplasm by anatomical site	6336	SCN10A	ORPHA:90026
HP:0011793	Neoplasm by anatomical site	9401	RECQL4	ORPHA:221016
HP:0011793	Neoplasm by anatomical site	2178	FANCE	OMIM:600901
HP:0011793	Neoplasm by anatomical site	2175	FANCA	OMIM:227650
HP:0011793	Neoplasm by anatomical site	3832	KIF11	ORPHA:2526
HP:0011793	Neoplasm by anatomical site	134218	DNAJC21	ORPHA:811
HP:0011793	Neoplasm by anatomical site	79631	EFL1	ORPHA:811
HP:0011793	Neoplasm by anatomical site	51119	SBDS	ORPHA:811
HP:0011793	Neoplasm by anatomical site	64682	ANAPC1	ORPHA:221008
HP:0011793	Neoplasm by anatomical site	63895	PIEZO2	OMIM:248700
HP:0011793	Neoplasm by anatomical site	7528	YY1	ORPHA:97279
HP:0011793	Neoplasm by anatomical site	8481	OFD1	OMIM:311200
HP:0011793	Neoplasm by anatomical site	8481	OFD1	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	64601	VPS16	OMIM:619291
HP:0011793	Neoplasm by anatomical site	4990	SIX6	OMIM:206900
HP:0011793	Neoplasm by anatomical site	6657	SOX2	OMIM:206900
HP:0011793	Neoplasm by anatomical site	4123	MAN2C1	OMIM:619775
HP:0011793	Neoplasm by anatomical site	65250	CPLANE1	OMIM:277170
HP:0011793	Neoplasm by anatomical site	65250	CPLANE1	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	7074	TIAM1	OMIM:619908
HP:0011793	Neoplasm by anatomical site	10210	TOPORS	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	9851	KIAA0753	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	26123	TCTN3	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	5147	PDE6D	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	51259	TMEM216	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	317662	FAM149B1	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	374654	KIF7	ORPHA:2754
HP:0011793	Neoplasm by anatomical site	5566	PRKACA	ORPHA:289
HP:0011793	Neoplasm by anatomical site	5567	PRKACB	ORPHA:289
HP:0011793	Neoplasm by anatomical site	2735	GLI1	ORPHA:289
HP:0011793	Neoplasm by anatomical site	2121	EVC	ORPHA:289
HP:0011793	Neoplasm by anatomical site	51626	DYNC2LI1	ORPHA:289
HP:0011793	Neoplasm by anatomical site	132884	EVC2	ORPHA:289
HP:0011793	Neoplasm by anatomical site	546	ATRX	ORPHA:231401
HP:0011793	Neoplasm by anatomical site	10019	SH2B3	ORPHA:3318
HP:0011793	Neoplasm by anatomical site	811	CALR	ORPHA:3318
HP:0011793	Neoplasm by anatomical site	4352	MPL	ORPHA:3318
HP:0011793	Neoplasm by anatomical site	4352	MPL	ORPHA:729
HP:0011793	Neoplasm by anatomical site	3717	JAK2	ORPHA:3318
HP:0011793	Neoplasm by anatomical site	3717	JAK2	ORPHA:729
HP:0011793	Neoplasm by anatomical site	54790	TET2	ORPHA:3318
HP:0011793	Neoplasm by anatomical site	54790	TET2	ORPHA:729
HP:0011793	Neoplasm by anatomical site	412	STS	ORPHA:281090
HP:0011793	Neoplasm by anatomical site	7454	WAS	ORPHA:906
HP:0011793	Neoplasm by anatomical site	7456	WIPF1	ORPHA:906
HP:0011793	Neoplasm by anatomical site	7518	XRCC4	ORPHA:99812
HP:0011793	Neoplasm by anatomical site	3981	LIG4	ORPHA:99812
HP:0011793	Neoplasm by anatomical site	7305	TYROBP	ORPHA:2770
HP:0011793	Neoplasm by anatomical site	54209	TREM2	ORPHA:2770
HP:0011793	Neoplasm by anatomical site	9487	PIGL	ORPHA:3474
HP:0011793	Neoplasm by anatomical site	2624	GATA2	ORPHA:3226
HP:0011793	Neoplasm by anatomical site	5551	PRF1	OMIM:605027
HP:0011793	Neoplasm by anatomical site	4860	PNP	OMIM:613179
HP:0011793	Neoplasm by anatomical site	55636	CHD7	ORPHA:39041
HP:0011793	Neoplasm by anatomical site	5896	RAG1	ORPHA:39041
HP:0011793	Neoplasm by anatomical site	5897	RAG2	ORPHA:39041
HP:0011793	Neoplasm by anatomical site	3575	IL7R	ORPHA:39041
HP:0011793	Neoplasm by anatomical site	1776	DNASE1L3	ORPHA:36412
HP:0011793	Neoplasm by anatomical site	596	BCL2	ORPHA:545
HP:0011793	Neoplasm by anatomical site	3123	HLA-DRB1	ORPHA:545
HP:0011793	Neoplasm by anatomical site	604	BCL6	ORPHA:545
HP:0011793	Neoplasm by anatomical site	3117	HLA-DQA1	OMIM:212750
HP:0011793	Neoplasm by anatomical site	3119	HLA-DQB1	OMIM:212750
HP:0011793	Neoplasm by anatomical site	3514	IGKC	ORPHA:183675
HP:0011793	Neoplasm by anatomical site	3501	IGHG2	ORPHA:183675
HP:0011793	Neoplasm by anatomical site	51428	DDX41	OMIM:616871
HP:0011793	Neoplasm by anatomical site	8626	TP63	ORPHA:1896
HP:0011793	Neoplasm by anatomical site	80169	CTC1	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	55651	NHP2	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	79650	USB1	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	51750	RTEL1	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	4869	NPM1	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	55505	NOP10	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	5073	PARN	ORPHA:1775
HP:0011793	Neoplasm by anatomical site	9158	FIBP	ORPHA:500095
HP:0011793	Neoplasm by anatomical site	9158	FIBP	OMIM:617107
HP:0011793	Neoplasm by anatomical site	9759	HDAC4	ORPHA:1001
HP:0011793	Neoplasm by anatomical site	4591	TRIM37	OMIM:253250
HP:0011793	Neoplasm by anatomical site	55027	HEATR3	OMIM:620072
HP:0011793	Neoplasm by anatomical site	4507	MTAP	OMIM:112250
HP:0011793	Neoplasm by anatomical site	8878	SQSTM1	OMIM:167250
HP:0011793	Neoplasm by anatomical site	6023	RMRP	OMIM:250250
HP:0011793	Neoplasm by anatomical site	8643	PTCH2	OMIM:605462
HP:0011793	Neoplasm by anatomical site	1540	CYLD	ORPHA:867
HP:0011793	Neoplasm by anatomical site	1540	CYLD	OMIM:601606
HP:0011793	Neoplasm by anatomical site	4488	MSX2	ORPHA:60015
HP:0011793	Neoplasm by anatomical site	8665	EIF3F	OMIM:618295
HP:0011793	Neoplasm by anatomical site	4330	MN1	OMIM:607174
HP:0011793	Neoplasm by anatomical site	3621	ING1	OMIM:275355
HP:0011793	Neoplasm by anatomical site	8795	TNFRSF10B	OMIM:275355
HP:0011793	Neoplasm by anatomical site	3909	LAMA3	ORPHA:79404
HP:0011793	Neoplasm by anatomical site	3918	LAMC2	ORPHA:79404
HP:0011793	Neoplasm by anatomical site	3914	LAMB3	ORPHA:79404
HP:0011793	Neoplasm by anatomical site	84464	SLX4	OMIM:613951
HP:0011793	Neoplasm by anatomical site	833	CARS1	ORPHA:33364
HP:0011793	Neoplasm by anatomical site	7737	RNF113A	ORPHA:33364
HP:0011793	Neoplasm by anatomical site	136647	MPLKIP	ORPHA:33364
HP:0011793	Neoplasm by anatomical site	6897	TARS1	ORPHA:33364
HP:0011793	Neoplasm by anatomical site	2961	GTF2E2	ORPHA:33364
HP:0011793	Neoplasm by anatomical site	23328	SASH1	OMIM:618373
HP:0011793	Neoplasm by anatomical site	2224	FDPS	ORPHA:79152
HP:0011793	Neoplasm by anatomical site	4597	MVD	ORPHA:79152
HP:0011793	Neoplasm by anatomical site	63910	SLC17A9	ORPHA:79152
HP:0011793	Neoplasm by anatomical site	114803	MYSM1	ORPHA:508542
HP:0011793	Neoplasm by anatomical site	7317	UBA1	OMIM:301054
HP:0011793	Neoplasm by anatomical site	55159	RFWD3	OMIM:617784
HP:0011793	Neoplasm by anatomical site	55159	RFWD3	ORPHA:84
HP:0011793	Neoplasm by anatomical site	6731	SRP72	OMIM:614675
HP:0011793	Neoplasm by anatomical site	6117	RPA1	OMIM:619767
HP:0011793	Neoplasm by anatomical site	9837	GINS1	OMIM:617827
HP:0011793	Neoplasm by anatomical site	6603	SMARCD2	OMIM:617475
HP:0011793	Neoplasm by anatomical site	162417	NAGS	ORPHA:927
HP:0011793	Neoplasm by anatomical site	10459	MAD2L2	ORPHA:84
HP:0011793	Neoplasm by anatomical site	7516	XRCC2	ORPHA:84
HP:0011793	Neoplasm by anatomical site	55120	FANCL	ORPHA:84
HP:0011793	Neoplasm by anatomical site	2187	FANCB	ORPHA:84
HP:0011793	Neoplasm by anatomical site	2188	FANCF	ORPHA:84
HP:0011793	Neoplasm by anatomical site	57697	FANCM	ORPHA:84
HP:0011793	Neoplasm by anatomical site	55215	FANCI	ORPHA:84
HP:0011793	Neoplasm by anatomical site	23218	NBEAL2	ORPHA:721
HP:0011793	Neoplasm by anatomical site	1441	CSF3R	OMIM:162830
HP:0011793	Neoplasm by anatomical site	9652	SKIC3	ORPHA:84064
HP:0011793	Neoplasm by anatomical site	6499	SKIC2	ORPHA:84064
HP:0011793	Neoplasm by anatomical site	6597	SMARCA4	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	6659	SOX4	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	8289	ARID1A	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	5977	DPF2	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	6601	SMARCC2	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	6602	SMARCD1	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	196528	ARID2	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	6664	SOX11	ORPHA:1465
HP:0011793	Neoplasm by anatomical site	388015	RTL1	ORPHA:96334
HP:0011793	Neoplasm by anatomical site	8788	DLK1	ORPHA:96334
HP:0011793	Neoplasm by anatomical site	55384	MEG3	ORPHA:96334
HP:0011793	Neoplasm by anatomical site	199221	DZIP1L	ORPHA:731
HP:0011793	Neoplasm by anatomical site	5314	PKHD1	ORPHA:731
HP:0011793	Neoplasm by anatomical site	23432	GPR161	OMIM:155255
HP:0011793	Neoplasm by anatomical site	8518	ELP1	OMIM:155255
HP:0011793	Neoplasm by anatomical site	3766	KCNJ10	ORPHA:705
HP:0011793	Neoplasm by anatomical site	3766	KCNJ10	OMIM:274600
HP:0011793	Neoplasm by anatomical site	2299	FOXI1	ORPHA:705
HP:0011793	Neoplasm by anatomical site	2299	FOXI1	OMIM:274600
HP:0011793	Neoplasm by anatomical site	5172	SLC26A4	ORPHA:705
HP:0011793	Neoplasm by anatomical site	5172	SLC26A4	OMIM:274600
HP:0011793	Neoplasm by anatomical site	7038	TG	OMIM:274700
HP:0011793	Neoplasm by anatomical site	64072	CDH23	OMIM:617540
HP:0011793	Neoplasm by anatomical site	9101	USP8	OMIM:219090
HP:0011793	Neoplasm by anatomical site	182	JAG1	OMIM:118450
HP:0011793	Neoplasm by anatomical site	5244	ABCB4	ORPHA:69663
HP:0011793	Neoplasm by anatomical site	56623	INPP5E	ORPHA:1454
HP:0011793	Neoplasm by anatomical site	91147	TMEM67	ORPHA:1454
HP:0011793	Neoplasm by anatomical site	23322	RPGRIP1L	ORPHA:1454
HP:0011793	Neoplasm by anatomical site	57545	CC2D2A	ORPHA:1454
HP:0011793	Neoplasm by anatomical site	846	CASR	OMIM:145980
HP:0011793	Neoplasm by anatomical site	1188	CLCNKB	ORPHA:358
HP:0011793	Neoplasm by anatomical site	6559	SLC12A3	ORPHA:358
HP:0011793	Neoplasm by anatomical site	54894	RNF43	ORPHA:157798
HP:0011793	Neoplasm by anatomical site	388662	SLC6A17	ORPHA:457212
HP:0011793	Neoplasm by anatomical site	4913	NTHL1	ORPHA:454840
HP:0011793	Neoplasm by anatomical site	4913	NTHL1	OMIM:616415
HP:0011793	Neoplasm by anatomical site	5889	RAD51C	OMIM:613399
HP:0011793	Neoplasm by anatomical site	5889	RAD51C	ORPHA:145
HP:0011793	Neoplasm by anatomical site	545	ATR	OMIM:614564
HP:0011793	Neoplasm by anatomical site	999	CDH1	OMIM:167000
HP:0011793	Neoplasm by anatomical site	999	CDH1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	5071	PRKN	OMIM:167000
HP:0011793	Neoplasm by anatomical site	4978	OPCML	OMIM:167000
HP:0011793	Neoplasm by anatomical site	2064	ERBB2	OMIM:167000
HP:0011793	Neoplasm by anatomical site	83990	BRIP1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	83990	BRIP1	ORPHA:145
HP:0011793	Neoplasm by anatomical site	5002	SLC22A18	OMIM:114480
HP:0011793	Neoplasm by anatomical site	4835	NQO2	OMIM:114480
HP:0011793	Neoplasm by anatomical site	5245	PHB1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	3161	HMMR	OMIM:114480
HP:0011793	Neoplasm by anatomical site	580	BARD1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	580	BARD1	ORPHA:145
HP:0011793	Neoplasm by anatomical site	672	BRCA1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	672	BRCA1	OMIM:604370
HP:0011793	Neoplasm by anatomical site	672	BRCA1	ORPHA:145
HP:0011793	Neoplasm by anatomical site	672	BRCA1	OMIM:617883
HP:0011793	Neoplasm by anatomical site	672	BRCA1	ORPHA:1333
HP:0011793	Neoplasm by anatomical site	675	BRCA2	OMIM:114480
HP:0011793	Neoplasm by anatomical site	675	BRCA2	ORPHA:145
HP:0011793	Neoplasm by anatomical site	675	BRCA2	ORPHA:1333
HP:0011793	Neoplasm by anatomical site	675	BRCA2	OMIM:612555
HP:0011793	Neoplasm by anatomical site	8493	PPM1D	OMIM:114480
HP:0011793	Neoplasm by anatomical site	79728	PALB2	OMIM:114480
HP:0011793	Neoplasm by anatomical site	79728	PALB2	ORPHA:145
HP:0011793	Neoplasm by anatomical site	79728	PALB2	ORPHA:1333
HP:0011793	Neoplasm by anatomical site	5888	RAD51	OMIM:114480
HP:0011793	Neoplasm by anatomical site	5888	RAD51	ORPHA:145
HP:0011793	Neoplasm by anatomical site	7517	XRCC3	OMIM:114480
HP:0011793	Neoplasm by anatomical site	9821	RB1CC1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	2099	ESR1	OMIM:114480
HP:0011793	Neoplasm by anatomical site	841	CASP8	OMIM:114480
HP:0011793	Neoplasm by anatomical site	8438	RAD54L	OMIM:114480
HP:0011793	Neoplasm by anatomical site	4210	MEFV	ORPHA:3243
HP:0011793	Neoplasm by anatomical site	5424	POLD1	ORPHA:447877
HP:0011793	Neoplasm by anatomical site	7486	WRN	ORPHA:902
HP:0011793	Neoplasm by anatomical site	7373	COL14A1	ORPHA:79501
HP:0011793	Neoplasm by anatomical site	79719	AAGAB	ORPHA:79501
HP:0011793	Neoplasm by anatomical site	4193	MDM2	ORPHA:524
HP:0011793	Neoplasm by anatomical site	5892	RAD51D	ORPHA:145
HP:0011793	Neoplasm by anatomical site	10111	RAD50	ORPHA:145
HP:0011793	Neoplasm by anatomical site	4361	MRE11	ORPHA:145
HP:0011793	Neoplasm by anatomical site	2778	GNAS	ORPHA:562
HP:0011793	Neoplasm by anatomical site	285282	RABL3	ORPHA:1333
HP:0011793	Neoplasm by anatomical site	23022	PALLD	ORPHA:1333
HP:0011793	Neoplasm by anatomical site	7291	TWIST1	OMIM:101400
HP:0011793	Neoplasm by anatomical site	2263	FGFR2	OMIM:101400
HP:0011793	Neoplasm by anatomical site	3418	IDH2	ORPHA:163634
HP:0011793	Neoplasm by anatomical site	30011	SH3KBP1	OMIM:300310
HP:0011793	Neoplasm by anatomical site	716	C1S	OMIM:617174
HP:0011793	Neoplasm by anatomical site	5378	PMS1	OMIM:120435
HP:0011793	Neoplasm by anatomical site	5378	PMS1	ORPHA:144
HP:0011793	Neoplasm by anatomical site	4092	SMAD7	OMIM:612229
HP:0011793	Neoplasm by anatomical site	4595	MUTYH	OMIM:608456
HP:0011793	Neoplasm by anatomical site	6223	RPS19	OMIM:105650
HP:0011793	Neoplasm by anatomical site	4072	EPCAM	ORPHA:144
HP:0011793	Neoplasm by anatomical site	4072	EPCAM	OMIM:613244
HP:0011793	Neoplasm by anatomical site	5395	PMS2	ORPHA:144
HP:0011793	Neoplasm by anatomical site	5395	PMS2	OMIM:619101
HP:0011793	Neoplasm by anatomical site	22909	FAN1	ORPHA:144
HP:0011793	Neoplasm by anatomical site	7048	TGFBR2	ORPHA:144
HP:0011793	Neoplasm by anatomical site	9184	BUB3	ORPHA:1052
HP:0011793	Neoplasm by anatomical site	9702	CEP57	ORPHA:1052
HP:0011793	Neoplasm by anatomical site	9319	TRIP13	ORPHA:1052
HP:0011793	Neoplasm by anatomical site	2304	FOXE1	ORPHA:319487
HP:0011793	Neoplasm by anatomical site	3026	HABP2	ORPHA:319487
HP:0011793	Neoplasm by anatomical site	9562	MINPP1	ORPHA:319487
HP:0011793	Neoplasm by anatomical site	4437	MSH3	ORPHA:480536
HP:0011793	Neoplasm by anatomical site	429	ASCL1	ORPHA:99803
HP:0011793	Neoplasm by anatomical site	2239	GPC4	ORPHA:373
HP:0011793	Neoplasm by anatomical site	5590	PRKCZ	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	2563	GABRD	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	8510	MMP23B	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	7798	LUZP1	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	6497	SKI	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	10630	PDPN	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	10277	UBE4B	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	8514	KCNAB2	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	473	RERE	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	63976	PRDM16	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	54897	CASZ1	ORPHA:1606
HP:0011793	Neoplasm by anatomical site	5894	RAF1	ORPHA:500
HP:0011793	Neoplasm by anatomical site	4613	MYCN	ORPHA:635
HP:0011793	Neoplasm by anatomical site	7153	TOP2A	ORPHA:635
HP:0011793	Neoplasm by anatomical site	238	ALK	ORPHA:635
HP:0011793	Neoplasm by anatomical site	389421	LIN28B	ORPHA:635
HP:0011793	Neoplasm by anatomical site	4004	LMO1	ORPHA:635
HP:0011793	Neoplasm by anatomical site	57531	HACE1	ORPHA:635
HP:0011793	Neoplasm by anatomical site	79944	L2HGDH	ORPHA:79314
HP:0011793	Neoplasm by anatomical site	171023	ASXL1	ORPHA:98850
HP:0011793	Neoplasm by anatomical site	171023	ASXL1	ORPHA:98849
HP:0011793	Neoplasm by anatomical site	867	CBL	ORPHA:98850
HP:0011793	Neoplasm by anatomical site	861	RUNX1	ORPHA:98850
HP:0011793	Neoplasm by anatomical site	6427	SRSF2	ORPHA:98850
HP:0011793	Neoplasm by anatomical site	6427	SRSF2	ORPHA:98849
HP:0011793	Neoplasm by anatomical site	11277	TREX1	OMIM:225750
HP:0011793	Neoplasm by anatomical site	1146	CHRNG	OMIM:265000
HP:0011793	Neoplasm by anatomical site	10526	IPO8	OMIM:619472
HP:0011793	Neoplasm by anatomical site	1836	SLC26A2	ORPHA:56304
HP:0011793	Neoplasm by anatomical site	128	ADH5	OMIM:619151
HP:0011793	Neoplasm by anatomical site	26511	CHIC2	OMIM:601626
HP:0011793	Neoplasm by anatomical site	1050	CEBPA	OMIM:601626
HP:0011793	Neoplasm by anatomical site	6455	SH3GL1	OMIM:601626
HP:0011793	Neoplasm by anatomical site	8028	MLLT10	OMIM:601626
HP:0011793	Neoplasm by anatomical site	8301	PICALM	OMIM:601626
HP:0011793	Neoplasm by anatomical site	4026	LPP	OMIM:601626
HP:0011793	Neoplasm by anatomical site	54809	SAMD9	OMIM:619041
HP:0011793	Neoplasm by anatomical site	29089	UBE2T	OMIM:616435
HP:0011793	Neoplasm by anatomical site	2120	ETV6	OMIM:616216
HP:0011793	Neoplasm by anatomical site	219285	SAMD9L	OMIM:159550
HP:0011793	Neoplasm by anatomical site	219285	SAMD9L	ORPHA:2585
HP:0011793	Neoplasm by anatomical site	150274	HSCB	OMIM:619523
HP:0011793	Neoplasm by anatomical site	3313	HSPA9	OMIM:182170
HP:0011793	Neoplasm by anatomical site	4926	NUMA1	OMIM:612376
HP:0011793	Neoplasm by anatomical site	5914	RARA	OMIM:612376
HP:0011793	Neoplasm by anatomical site	6609	SMPD1	ORPHA:77293
HP:0011793	Neoplasm by anatomical site	2137	EXTL3	ORPHA:508533
HP:0011793	Neoplasm by anatomical site	9653	HS2ST1	OMIM:619194
HP:0011793	Neoplasm by anatomical site	10484	SEC23A	ORPHA:50814
HP:0011793	Neoplasm by anatomical site	10484	SEC23A	OMIM:607812
HP:0011793	Neoplasm by anatomical site	1857	DVL3	ORPHA:3107
HP:0011793	Neoplasm by anatomical site	7474	WNT5A	ORPHA:3107
HP:0011793	Neoplasm by anatomical site	1855	DVL1	ORPHA:3107
HP:0011793	Neoplasm by anatomical site	526	ATP6V1B2	ORPHA:79500
HP:0011793	Neoplasm by anatomical site	57465	TBC1D24	ORPHA:79500
HP:0011793	Neoplasm by anatomical site	22827	PUF60	ORPHA:508488
HP:0011793	Neoplasm by anatomical site	3791	KDR	OMIM:602089
HP:0011793	Neoplasm by anatomical site	151188	ARL6IP6	ORPHA:1556
HP:0011793	Neoplasm by anatomical site	7066	THPO	ORPHA:71493
HP:0011793	Neoplasm by anatomical site	25	ABL1	OMIM:608232
HP:0011793	Neoplasm by anatomical site	613	BCR	OMIM:608232
HP:0011793	Neoplasm by anatomical site	4615	MYD88	ORPHA:33226
HP:0011793	Neoplasm by anatomical site	4615	MYD88	OMIM:153600
HP:0011793	Neoplasm by anatomical site	3561	IL2RG	ORPHA:276
HP:0011793	Neoplasm by anatomical site	50485	SMARCAL1	ORPHA:1830
HP:0011793	Neoplasm by anatomical site	51816	ADA2	OMIM:615688
HP:0011793	Neoplasm by anatomical site	1503	CTPS1	OMIM:615897
HP:0011793	Neoplasm by anatomical site	987	LRBA	OMIM:614700
HP:0011793	Neoplasm by anatomical site	7535	ZAP70	ORPHA:911
HP:0011793	Neoplasm by anatomical site	4173	MCM4	OMIM:609981
HP:0011793	Neoplasm by anatomical site	210	ALAD	ORPHA:100924
HP:0011793	Neoplasm by anatomical site	10535	RNASEH2A	ORPHA:51
HP:0011793	Neoplasm by anatomical site	84153	RNASEH2C	ORPHA:51
HP:0011793	Neoplasm by anatomical site	25939	SAMHD1	ORPHA:51
HP:0011793	Neoplasm by anatomical site	79621	RNASEH2B	ORPHA:51
HP:0011793	Neoplasm by anatomical site	103	ADAR	ORPHA:51
HP:0011793	Neoplasm by anatomical site	100147744	RNU7-1	ORPHA:51
HP:0011793	Neoplasm by anatomical site	134353	LSM11	ORPHA:51
HP:0011793	Neoplasm by anatomical site	64135	IFIH1	ORPHA:51
HP:0011793	Neoplasm by anatomical site	7030	TFE3	OMIM:300854
HP:0011793	Neoplasm by anatomical site	79798	ARMC5	ORPHA:189427
HP:0011793	Neoplasm by anatomical site	4968	OGG1	OMIM:144700
HP:0011793	Neoplasm by anatomical site	11236	RNF139	OMIM:144700
HP:0011793	Neoplasm by anatomical site	55193	PBRM1	OMIM:144700
HP:0011793	Neoplasm by anatomical site	5781	PTPN11	OMIM:156250
HP:0011793	Neoplasm by anatomical site	84172	POLR1B	ORPHA:861
HP:0011793	Neoplasm by anatomical site	9533	POLR1C	ORPHA:861
HP:0011793	Neoplasm by anatomical site	51082	POLR1D	ORPHA:861
HP:0011793	Neoplasm by anatomical site	6949	TCOF1	ORPHA:861
HP:0011793	Neoplasm by anatomical site	440275	EIF2AK4	OMIM:234810
HP:0011793	Neoplasm by anatomical site	440275	EIF2AK4	ORPHA:199241
HP:0011793	Neoplasm by anatomical site	6440	SFTPC	OMIM:178500
HP:0011793	Neoplasm by anatomical site	727897	MUC5B	OMIM:178500
HP:0011793	Neoplasm by anatomical site	729238	SFTPA2	OMIM:178500
HP:0011793	Neoplasm by anatomical site	2074	ERCC6	OMIM:211980
HP:0011793	Neoplasm by anatomical site	1956	EGFR	OMIM:211980
HP:0011793	Neoplasm by anatomical site	1548	CYP2A6	OMIM:211980
HP:0011793	Neoplasm by anatomical site	5519	PPP2R1B	OMIM:211980
HP:0011793	Neoplasm by anatomical site	1326	MAP3K8	OMIM:211980
HP:0011793	Neoplasm by anatomical site	54888	NSUN2	ORPHA:235
HP:0011793	Neoplasm by anatomical site	641	BLM	ORPHA:125
HP:0011793	Neoplasm by anatomical site	2322	FLT3	OMIM:613065
HP:0011793	Neoplasm by anatomical site	2782	GNB1	OMIM:613065
HP:0011793	Neoplasm by anatomical site	8021	NUP214	OMIM:613065
HP:0011793	Neoplasm by anatomical site	6886	TAL1	OMIM:613065
HP:0011793	Neoplasm by anatomical site	6887	TAL2	OMIM:613065
HP:0011793	Neoplasm by anatomical site	10320	IKZF1	OMIM:616873
HP:0011793	Neoplasm by anatomical site	10456	HAX1	OMIM:610738
HP:0011793	Neoplasm by anatomical site	11330	CTRC	ORPHA:103918
HP:0011793	Neoplasm by anatomical site	6690	SPINK1	ORPHA:103918
HP:0011793	Neoplasm by anatomical site	64218	SEMA4A	ORPHA:440437
HP:0011793	Neoplasm by anatomical site	6224	RPS20	ORPHA:440437
HP:0011793	Neoplasm by anatomical site	1854	DUT	OMIM:620044
HP:0011793	Neoplasm by anatomical site	57522	SRGAP1	OMIM:188470
HP:0011793	Neoplasm by anatomical site	2623	GATA1	OMIM:190685
HP:0011793	Neoplasm by anatomical site	79577	CDC73	OMIM:145001
HP:0011793	Neoplasm by anatomical site	7298	TYMS	OMIM:620040
HP:0011793	Neoplasm by anatomical site	284654	RSPO1	ORPHA:85112
HP:0011793	Neoplasm by anatomical site	147138	TMC8	OMIM:618231
HP:0011793	Neoplasm by anatomical site	1643	DDB2	OMIM:278740
HP:0011793	Neoplasm by anatomical site	3574	IL7	OMIM:618309
HP:0011793	Neoplasm by anatomical site	4000	LMNA	ORPHA:363618
HP:0011793	Neoplasm by anatomical site	2071	ERCC3	OMIM:610651
HP:0011793	Neoplasm by anatomical site	2071	ERCC3	ORPHA:220295
HP:0011793	Neoplasm by anatomical site	2068	ERCC2	ORPHA:220295
HP:0011793	Neoplasm by anatomical site	2073	ERCC5	ORPHA:220295
HP:0011793	Neoplasm by anatomical site	2072	ERCC4	ORPHA:220295
HP:0011793	Neoplasm by anatomical site	56916	SMARCAD1	OMIM:181600
HP:0011793	Neoplasm by anatomical site	26277	TINF2	OMIM:127550
HP:0011793	Neoplasm by anatomical site	7012	TERC	OMIM:127550
HP:0011793	Neoplasm by anatomical site	3852	KRT5	ORPHA:79396
HP:0011793	Neoplasm by anatomical site	3861	KRT14	ORPHA:79396
HP:0011793	Neoplasm by anatomical site	7299	TYR	ORPHA:79431
HP:0011793	Neoplasm by anatomical site	7299	TYR	ORPHA:79434
HP:0011793	Neoplasm by anatomical site	4948	OCA2	ORPHA:79432
HP:0011793	Neoplasm by anatomical site	7508	XPC	OMIM:278720
HP:0011793	Neoplasm by anatomical site	7507	XPA	OMIM:278700
HP:0011793	Neoplasm by anatomical site	5925	RB1	OMIM:109800
HP:0011793	Neoplasm by anatomical site	1028	CDKN1C	OMIM:130650
HP:0011793	Neoplasm by anatomical site	10984	KCNQ1OT1	OMIM:130650
HP:0011793	Neoplasm by anatomical site	3481	IGF2	OMIM:130650
HP:0011793	Neoplasm by anatomical site	3784	KCNQ1	OMIM:130650
HP:0011793	Neoplasm by anatomical site	84133	ZNRF3	ORPHA:1501
HP:0011793	Neoplasm by anatomical site	8929	PHOX2B	OMIM:613013
HP:0011793	Neoplasm by anatomical site	8929	PHOX2B	ORPHA:661
HP:0011793	Neoplasm by anatomical site	8929	PHOX2B	ORPHA:2151
HP:0011793	Neoplasm by anatomical site	8929	PHOX2B	OMIM:209880
HP:0011793	Neoplasm by anatomical site	1908	EDN3	ORPHA:661
HP:0011793	Neoplasm by anatomical site	2668	GDNF	ORPHA:661
HP:0011793	Neoplasm by anatomical site	627	BDNF	ORPHA:661
HP:0011793	Neoplasm by anatomical site	283446	MYO1H	ORPHA:661
HP:0011793	Neoplasm by anatomical site	23095	KIF1B	OMIM:256700
HP:0011793	Neoplasm by anatomical site	7428	VHL	ORPHA:892
HP:0011793	Neoplasm by anatomical site	7428	VHL	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	7428	VHL	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	595	CCND1	ORPHA:892
HP:0011793	Neoplasm by anatomical site	1743	DLST	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	4191	MDH2	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	5979	RET	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	5979	RET	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	6389	SDHA	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	2271	FH	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	8402	SLC25A11	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	54949	SDHAF2	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	55654	TMEM127	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	4763	NF1	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	6391	SDHC	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	6391	SDHC	OMIM:605373
HP:0011793	Neoplasm by anatomical site	6392	SDHD	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	6392	SDHD	OMIM:168000
HP:0011793	Neoplasm by anatomical site	6392	SDHD	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	6390	SDHB	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	6390	SDHB	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	6390	SDHB	OMIM:115310
HP:0011793	Neoplasm by anatomical site	4149	MAX	ORPHA:29072
HP:0011793	Neoplasm by anatomical site	1788	DNMT3A	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	2034	EPAS1	ORPHA:276621
HP:0011793	Neoplasm by anatomical site	4436	MSH2	ORPHA:587
HP:0011793	Neoplasm by anatomical site	6714	SRC	OMIM:114500
HP:0011793	Neoplasm by anatomical site	201163	FLCN	OMIM:114500
HP:0011793	Neoplasm by anatomical site	10395	DLC1	OMIM:114500
HP:0011793	Neoplasm by anatomical site	11200	CHEK2	OMIM:114500
HP:0011793	Neoplasm by anatomical site	8313	AXIN2	OMIM:114500
HP:0011793	Neoplasm by anatomical site	5290	PIK3CA	OMIM:114500
HP:0011793	Neoplasm by anatomical site	2033	EP300	OMIM:114500
HP:0011793	Neoplasm by anatomical site	5782	PTPN12	OMIM:114500
HP:0011793	Neoplasm by anatomical site	5320	PLA2G2A	OMIM:114500
HP:0011793	Neoplasm by anatomical site	6790	AURKA	OMIM:114500
HP:0011793	Neoplasm by anatomical site	1630	DCC	OMIM:114500
HP:0011793	Neoplasm by anatomical site	27030	MLH3	OMIM:114500
HP:0011793	Neoplasm by anatomical site	581	BAX	OMIM:114500
HP:0011793	Neoplasm by anatomical site	25788	RAD54B	OMIM:114500
HP:0011793	Neoplasm by anatomical site	699	BUB1	OMIM:114500
HP:0011793	Neoplasm by anatomical site	701	BUB1B	OMIM:114500
HP:0011793	Neoplasm by anatomical site	2261	FGFR3	OMIM:114500
HP:0011793	Neoplasm by anatomical site	7097	TLR2	OMIM:114500
HP:0011793	Neoplasm by anatomical site	4893	NRAS	OMIM:114500
HP:0011793	Neoplasm by anatomical site	324	APC	OMIM:114500
HP:0011793	Neoplasm by anatomical site	1499	CTNNB1	OMIM:114500
HP:0011793	Neoplasm by anatomical site	7157	TP53	OMIM:114500
HP:0011793	Neoplasm by anatomical site	4163	MCC	OMIM:114500
HP:0011793	Neoplasm by anatomical site	207	AKT1	OMIM:114500
HP:0011793	Neoplasm by anatomical site	5157	PDGFRL	OMIM:114500
HP:0011793	Neoplasm by anatomical site	5795	PTPRJ	OMIM:114500
HP:0011793	Neoplasm by anatomical site	4286	MITF	ORPHA:618
HP:0011793	Neoplasm by anatomical site	1019	CDK4	ORPHA:618
HP:0011793	Neoplasm by anatomical site	4255	MGMT	ORPHA:618
HP:0011793	Neoplasm by anatomical site	54386	TERF2IP	ORPHA:618
HP:0011793	Neoplasm by anatomical site	4157	MC1R	ORPHA:618
HP:0011793	Neoplasm by anatomical site	65057	ACD	ORPHA:618
HP:0011793	Neoplasm by anatomical site	1029	CDKN2A	ORPHA:618
HP:0011793	Neoplasm by anatomical site	7015	TERT	ORPHA:618
HP:0011793	Neoplasm by anatomical site	25913	POT1	ORPHA:618
HP:0011793	Neoplasm by anatomical site	4089	SMAD4	OMIM:174900
HP:0011793	Neoplasm by anatomical site	5156	PDGFRA	ORPHA:44890
HP:0011793	Neoplasm by anatomical site	3815	KIT	ORPHA:44890
HP:0011793	Neoplasm by anatomical site	5573	PRKAR1A	ORPHA:1359
HP:0011793	Neoplasm by anatomical site	50940	PDE11A	ORPHA:1359
HP:0011793	Neoplasm by anatomical site	1287	COL4A5	OMIM:301050
HP:0011793	Neoplasm by anatomical site	1287	COL4A5	ORPHA:1018
HP:0011793	Neoplasm by anatomical site	1288	COL4A6	ORPHA:1018
HP:0011793	Neoplasm by anatomical site	6135	RPL11	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6138	RPL15	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6229	RPS24	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6125	RPL5	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6204	RPS10	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6165	RPL35A	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6232	RPS27	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6231	RPS26	ORPHA:124
HP:0011793	Neoplasm by anatomical site	11224	RPL35	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6160	RPL31	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6218	RPS17	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6201	RPS7	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6155	RPL27	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6154	RPL26	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6210	RPS15A	ORPHA:124
HP:0011793	Neoplasm by anatomical site	90121	TSR2	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6141	RPL18	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6235	RPS29	ORPHA:124
HP:0011793	Neoplasm by anatomical site	6234	RPS28	ORPHA:124
HP:0011793	Neoplasm by anatomical site	8148	TAF15	OMIM:612237
HP:0011793	Neoplasm by anatomical site	8013	NR4A3	OMIM:612237
HP:0011793	Neoplasm by anatomical site	4233	MET	OMIM:605074
HP:0011793	Neoplasm by anatomical site	5546	PRCC	OMIM:605074
HP:0011793	Neoplasm by anatomical site	9049	AIP	ORPHA:99725
HP:0011793	Neoplasm by anatomical site	9049	AIP	ORPHA:963
HP:0011793	Neoplasm by anatomical site	9049	AIP	OMIM:102200
HP:0011793	Neoplasm by anatomical site	83550	GPR101	ORPHA:963
HP:0011793	Neoplasm by anatomical site	203068	TUBB	ORPHA:2505
HP:0011793	Neoplasm by anatomical site	203068	TUBB	OMIM:156610
HP:0011793	Neoplasm by anatomical site	10982	MAPRE2	ORPHA:2505
HP:0011793	Neoplasm by anatomical site	64127	NOD2	ORPHA:90340
HP:0011793	Neoplasm by anatomical site	4598	MVK	OMIM:260920
HP:0011793	Neoplasm by anatomical site	2629	GBA1	OMIM:230800
HP:0011793	Neoplasm by anatomical site	5081	PAX7	OMIM:268220
HP:0011793	Neoplasm by anatomical site	2308	FOXO1	OMIM:268220
HP:0011793	Neoplasm by anatomical site	5077	PAX3	OMIM:268220
HP:0011793	Neoplasm by anatomical site	9247	GCM2	OMIM:617343
HP:0011793	Neoplasm by anatomical site	57688	ZSWIM6	ORPHA:1827
HP:0011793	Neoplasm by anatomical site	257	ALX3	OMIM:136760
HP:0011793	Neoplasm by anatomical site	257	ALX3	ORPHA:391474
HP:0011793	Neoplasm by anatomical site	8092	ALX1	ORPHA:306542
HP:0011793	Neoplasm by anatomical site	4247	MGAT2	OMIM:212066
HP:0011793	Neoplasm by anatomical site	5447	POR	ORPHA:95699
HP:0011793	Neoplasm by anatomical site	157570	ESCO2	OMIM:268300
HP:0011793	Neoplasm by anatomical site	2737	GLI3	ORPHA:672
HP:0011793	Neoplasm by anatomical site	2737	GLI3	OMIM:146510
HP:0011793	Neoplasm by anatomical site	10225	CD96	ORPHA:1308
HP:0011793	Neoplasm by anatomical site	8314	BAP1	OMIM:614327
HP:0011793	Neoplasm by anatomical site	8314	BAP1	OMIM:606661
HP:0011793	Neoplasm by anatomical site	8930	MBD4	OMIM:619975
HP:0011793	Neoplasm by anatomical site	8930	MBD4	OMIM:606660
HP:0011793	Neoplasm by anatomical site	6794	STK11	OMIM:155600
HP:0011793	Neoplasm by anatomical site	673	BRAF	OMIM:155600
HP:0011793	Neoplasm by anatomical site	9630	GNA14	ORPHA:1063
HP:0011793	Neoplasm by anatomical site	8943	AP3D1	ORPHA:54
HP:0011793	Neoplasm by anatomical site	4935	GPR143	ORPHA:54
HP:0011793	Neoplasm by anatomical site	404672	GTF2H5	OMIM:616395
HP:0011793	Neoplasm by anatomical site	2697	GJA1	ORPHA:317
HP:0011793	Neoplasm by anatomical site	2707	GJB3	ORPHA:317
HP:0011793	Neoplasm by anatomical site	2531	KDSR	ORPHA:317
HP:0011793	Neoplasm by anatomical site	127534	GJB4	ORPHA:317
HP:0011793	Neoplasm by anatomical site	57165	GJC2	ORPHA:79452
HP:0011793	Neoplasm by anatomical site	1277	COL1A1	ORPHA:31112
HP:0011793	Neoplasm by anatomical site	7390	UROS	ORPHA:79277
HP:0011793	Neoplasm by anatomical site	6591	SNAI2	ORPHA:2884
HP:0011793	Neoplasm by anatomical site	51151	SLC45A2	ORPHA:79435
HP:0011793	Neoplasm by anatomical site	1075	CTSC	ORPHA:678
HP:0011793	Neoplasm by anatomical site	6329	SCN4A	ORPHA:681
HP:0011793	Neoplasm by anatomical site	779	CACNA1S	ORPHA:681
HP:0011793	Neoplasm by anatomical site	10008	KCNE3	ORPHA:681
HP:0011793	Neoplasm by anatomical site	84196	USP48	ORPHA:96253
HP:0011793	Neoplasm by anatomical site	2908	NR3C1	ORPHA:96253
HP:0011793	Neoplasm by anatomical site	168667	BMPER	OMIM:608022
HP:0011793	Neoplasm by anatomical site	3735	KARS1	OMIM:613641
HP:0011793	Neoplasm by anatomical site	6928	HNF1B	ORPHA:93111
HP:0011793	Neoplasm by anatomical site	2639	GCDH	ORPHA:25
HP:0011793	Neoplasm by anatomical site	5333	PLCD1	ORPHA:2387
HP:0011793	Neoplasm by anatomical site	126792	B3GALT6	ORPHA:536467
HP:0011793	Neoplasm by anatomical site	4784	NFIX	OMIM:602535
HP:0011793	Neoplasm by anatomical site	9382	COG1	OMIM:611209
HP:0011793	Neoplasm by anatomical site	7080	NKX2-1	OMIM:610978
HP:0011793	Neoplasm by anatomical site	2138	EYA1	OMIM:113650
HP:0011793	Neoplasm by anatomical site	6495	SIX1	OMIM:113650
HP:0011793	Neoplasm by anatomical site	4921	DDR2	OMIM:618175
HP:0011793	Neoplasm by anatomical site	54914	FOCAD	OMIM:619991
HP:0011793	Neoplasm by anatomical site	5618	PRLR	OMIM:615554
HP:0011793	Neoplasm by anatomical site	2248	FGF3	ORPHA:2791
HP:0011793	Neoplasm by anatomical site	6049	RNF6	ORPHA:99977
HP:0011793	Neoplasm by anatomical site	6049	RNF6	OMIM:133239
HP:0011793	Neoplasm by anatomical site	9940	DLEC1	ORPHA:99977
HP:0011793	Neoplasm by anatomical site	11178	LZTS1	OMIM:133239
HP:0011793	Neoplasm by anatomical site	4626	MYH8	OMIM:608837
HP:0011793	Neoplasm by anatomical site	1181	CLCN2	ORPHA:404
HP:0011793	Neoplasm by anatomical site	1585	CYP11B2	ORPHA:403
HP:0011793	Neoplasm by anatomical site	51726	DNAJB11	ORPHA:730
HP:0011793	Neoplasm by anatomical site	23193	GANAB	ORPHA:730
HP:0011793	Neoplasm by anatomical site	5310	PKD1	ORPHA:730
HP:0011793	Neoplasm by anatomical site	5311	PKD2	ORPHA:730
HP:0011793	Neoplasm by anatomical site	29880	ALG5	ORPHA:730
HP:0011793	Neoplasm by anatomical site	9742	IFT140	ORPHA:730
HP:0011793	Neoplasm by anatomical site	79796	ALG9	ORPHA:730
HP:0011793	Neoplasm by anatomical site	80114	BICC1	ORPHA:730
HP:0011793	Neoplasm by anatomical site	79659	DYNC2H1	OMIM:613091
HP:0011793	Neoplasm by anatomical site	153241	CEP120	OMIM:616300
HP:0011793	Neoplasm by anatomical site	84314	TMEM107	OMIM:617563
HP:0011793	Neoplasm by anatomical site	4750	NEK1	OMIM:263520
HP:0011793	Neoplasm by anatomical site	4750	NEK1	ORPHA:2751
HP:0011793	Neoplasm by anatomical site	26005	C2CD3	ORPHA:434179
HP:0011793	Neoplasm by anatomical site	26005	C2CD3	OMIM:615948
HP:0011793	Neoplasm by anatomical site	9786	KIAA0586	OMIM:616546
HP:0011793	Neoplasm by anatomical site	83479	DDX59	OMIM:174300
HP:0011793	Neoplasm by anatomical site	27152	INTU	OMIM:617925
HP:0011793	Neoplasm by anatomical site	1906	EDN1	ORPHA:137888
HP:0011793	Neoplasm by anatomical site	5332	PLCB4	ORPHA:137888
HP:0011793	Neoplasm by anatomical site	2773	GNAI3	ORPHA:137888
HP:0011793	Neoplasm by anatomical site	79583	TMEM231	ORPHA:2752
HP:0011793	Neoplasm by anatomical site	3767	KCNJ11	ORPHA:552
HP:0011793	Neoplasm by anatomical site	8462	KLF11	ORPHA:552
HP:0011793	Neoplasm by anatomical site	2645	GCK	ORPHA:552
HP:0011793	Neoplasm by anatomical site	26060	APPL1	ORPHA:552
HP:0011793	Neoplasm by anatomical site	640	BLK	ORPHA:552
HP:0011793	Neoplasm by anatomical site	1056	CEL	ORPHA:552
HP:0011793	Neoplasm by anatomical site	4760	NEUROD1	ORPHA:552
HP:0011793	Neoplasm by anatomical site	3651	PDX1	ORPHA:552
HP:0011793	Neoplasm by anatomical site	6833	ABCC8	ORPHA:552
HP:0011793	Neoplasm by anatomical site	5078	PAX4	ORPHA:552
HP:0011793	Neoplasm by anatomical site	3172	HNF4A	ORPHA:552
HP:0011793	Neoplasm by anatomical site	6927	HNF1A	ORPHA:552
HP:0011793	Neoplasm by anatomical site	6927	HNF1A	OMIM:142330
HP:0011793	Neoplasm by anatomical site	3630	INS	ORPHA:552
HP:0011793	Neoplasm by anatomical site	5257	PHKB	ORPHA:79240
HP:0011793	Neoplasm by anatomical site	2542	SLC37A4	ORPHA:79259
HP:0011793	Neoplasm by anatomical site	5256	PHKA2	ORPHA:264580
HP:0011793	Neoplasm by anatomical site	5261	PHKG2	ORPHA:264580
HP:0011793	Neoplasm by anatomical site	6872	TAF1	ORPHA:480907
HP:0011793	Neoplasm by anatomical site	6134	RPL10	ORPHA:435938
HP:0011793	Neoplasm by anatomical site	3872	KRT17	OMIM:184500
HP:0011793	Neoplasm by anatomical site	3872	KRT17	OMIM:167210
HP:0011793	Neoplasm by anatomical site	3872	KRT17	ORPHA:2309
HP:0011793	Neoplasm by anatomical site	3872	KRT17	ORPHA:841
HP:0011793	Neoplasm by anatomical site	3854	KRT6B	OMIM:615728
HP:0011793	Neoplasm by anatomical site	3854	KRT6B	ORPHA:2309
HP:0011793	Neoplasm by anatomical site	3868	KRT16	ORPHA:2309
HP:0011793	Neoplasm by anatomical site	3853	KRT6A	ORPHA:2309
HP:0011793	Neoplasm by anatomical site	57105	CYSLTR2	ORPHA:39044
HP:0011793	Neoplasm by anatomical site	2776	GNAQ	ORPHA:39044
HP:0011793	Neoplasm by anatomical site	2767	GNA11	ORPHA:39044
HP:0011793	Neoplasm by anatomical site	23451	SF3B1	ORPHA:39044
HP:0011793	Neoplasm by anatomical site	1308	COL17A1	ORPHA:79406
HP:0011793	Neoplasm by anatomical site	4312	MMP1	ORPHA:79408
HP:0011793	Neoplasm by anatomical site	1294	COL7A1	ORPHA:79408
HP:0011793	Neoplasm by anatomical site	1294	COL7A1	ORPHA:79409
HP:0011793	Neoplasm by anatomical site	1294	COL7A1	ORPHA:79410
HP:0011793	Neoplasm by anatomical site	1294	COL7A1	ORPHA:79411
HP:0011793	Neoplasm by anatomical site	7852	CXCR4	ORPHA:51636
HP:0011793	Neoplasm by anatomical site	5429	POLH	OMIM:278750
HP:0011793	Neoplasm by anatomical site	2048	EPHB2	OMIM:603688
HP:0011793	Neoplasm by anatomical site	463	ZFHX3	OMIM:176807
HP:0011793	Neoplasm by anatomical site	1316	KLF6	OMIM:176807
HP:0011793	Neoplasm by anatomical site	367	AR	OMIM:176807
HP:0011793	Neoplasm by anatomical site	4601	MXI1	OMIM:176807
HP:0011793	Neoplasm by anatomical site	8379	MAD1L1	OMIM:176807
HP:0011793	Neoplasm by anatomical site	6041	RNASEL	OMIM:601518
HP:0011793	Neoplasm by anatomical site	4665	NAB2	ORPHA:2126
HP:0011793	Neoplasm by anatomical site	6778	STAT6	ORPHA:2126
HP:0011793	Neoplasm by anatomical site	3553	IL1B	OMIM:613659
HP:0011793	Neoplasm by anatomical site	3557	IL1RN	OMIM:613659
HP:0011793	Neoplasm by anatomical site	3659	IRF1	OMIM:613659
HP:0011793	Neoplasm by anatomical site	6208	RPS14	ORPHA:86841
HP:0011793	Neoplasm by anatomical site	6772	STAT1	ORPHA:391487
HP:0011793	Neoplasm by anatomical site	10043	TOM1	ORPHA:391487
HP:0011793	Neoplasm by anatomical site	23476	BRD4	ORPHA:443167
HP:0011793	Neoplasm by anatomical site	256646	NUTM1	ORPHA:443167
HP:0011793	Neoplasm by anatomical site	970	CD70	OMIM:618261
HP:0011793	Neoplasm by anatomical site	939	CD27	OMIM:615122
HP:0011793	Neoplasm by anatomical site	50619	DEF6	OMIM:619573
HP:0011793	Neoplasm by anatomical site	8651	SOCS1	OMIM:619375
HP:0011793	Neoplasm by anatomical site	6774	STAT3	OMIM:615952
HP:0011793	Neoplasm by anatomical site	5238	PGM3	OMIM:615816
HP:0011793	Neoplasm by anatomical site	1736	DKC1	OMIM:305000
HP:0011793	Neoplasm by anatomical site	6925	TCF4	ORPHA:2896
HP:0011793	Neoplasm by anatomical site	200942	KLHDC8B	OMIM:236000
HP:0011793	Neoplasm by anatomical site	2956	MSH6	OMIM:619097
HP:0011793	Neoplasm by anatomical site	5426	POLE	OMIM:618336
HP:0011793	Neoplasm by anatomical site	355	FAS	ORPHA:3261
HP:0011793	Neoplasm by anatomical site	356	FASLG	ORPHA:3261
HP:0011793	Neoplasm by anatomical site	5580	PRKCD	ORPHA:3261
HP:0011793	Neoplasm by anatomical site	843	CASP10	ORPHA:3261
HP:0011793	Neoplasm by anatomical site	10125	RASGRP1	ORPHA:3261
HP:0011793	Neoplasm by anatomical site	4683	NBN	ORPHA:647
HP:0011793	Neoplasm by anatomical site	57217	TTC7A	OMIM:243150
HP:0011793	Neoplasm by anatomical site	4292	MLH1	OMIM:276300
HP:0011793	Neoplasm by anatomical site	6850	SYK	OMIM:619381
HP:0011793	Neoplasm by anatomical site	472	ATM	ORPHA:52416
HP:0011793	Neoplasm by anatomical site	3492	IGH	ORPHA:52416
HP:0011793	Neoplasm by anatomical site	3492	IGH	ORPHA:52417
HP:0011793	Neoplasm by anatomical site	330	BIRC3	ORPHA:52417
HP:0011793	Neoplasm by anatomical site	10892	MALT1	ORPHA:52417
HP:0011793	Neoplasm by anatomical site	27086	FOXP1	ORPHA:52417
HP:0011793	Neoplasm by anatomical site	8915	BCL10	ORPHA:52417
HP:0011793	Neoplasm by anatomical site	84061	MAGT1	OMIM:300853
HP:0011793	Neoplasm by anatomical site	23149	FCHO1	OMIM:619164
HP:0011793	Neoplasm by anatomical site	3702	ITK	OMIM:613011
HP:0011793	Neoplasm by anatomical site	100	ADA	OMIM:102700
HP:0011793	Neoplasm by anatomical site	5788	PTPRC	OMIM:619924
HP:0011793	Neoplasm by anatomical site	5295	PIK3R1	OMIM:616005
HP:0011793	Neoplasm by anatomical site	22806	IKZF3	OMIM:619437
HP:0011793	Neoplasm by anatomical site	4773	NFATC2	OMIM:620232
HP:0011793	Neoplasm by anatomical site	1493	CTLA4	ORPHA:3162
HP:0011793	Neoplasm by anatomical site	1493	CTLA4	ORPHA:2584
HP:0011793	Neoplasm by anatomical site	940	CD28	ORPHA:3162
HP:0011793	Neoplasm by anatomical site	940	CD28	ORPHA:2584
HP:0011793	Neoplasm by anatomical site	7133	TNFRSF1B	ORPHA:3162
HP:0011793	Neoplasm by anatomical site	7133	TNFRSF1B	ORPHA:2584
HP:0011793	Neoplasm by anatomical site	389692	MAFA	OMIM:147630
HP:0011793	Neoplasm by anatomical site	4221	MEN1	ORPHA:652
HP:0011793	Neoplasm by anatomical site	4221	MEN1	OMIM:131100
HP:0011793	Neoplasm by anatomical site	1027	CDKN1B	ORPHA:652
HP:0011793	Neoplasm by anatomical site	1027	CDKN1B	ORPHA:276152
HP:0011793	Neoplasm by anatomical site	1026	CDKN1A	ORPHA:652
HP:0011793	Neoplasm by anatomical site	1030	CDKN2B	ORPHA:652
HP:0011793	Neoplasm by anatomical site	1031	CDKN2C	ORPHA:652
HP:0011793	Neoplasm by anatomical site	657	BMPR1A	OMIM:610069
HP:0011793	Neoplasm by anatomical site	657	BMPR1A	ORPHA:157794
HP:0011793	Neoplasm by anatomical site	26585	GREM1	ORPHA:157794
HP:0011793	Neoplasm by anatomical site	23092	ARHGAP26	OMIM:607785
HP:0011793	Neoplasm by anatomical site	2165	F13B	ORPHA:331
HP:0011793	Neoplasm by anatomical site	2162	F13A1	ORPHA:331
HP:0011793	Neoplasm by anatomical site	64840	PORCN	ORPHA:2092
HP:0011793	Neoplasm by anatomical site	56246	MRAP	ORPHA:361
HP:0011793	Neoplasm by anatomical site	6770	STAR	ORPHA:361
HP:0011793	Neoplasm by anatomical site	4158	MC2R	ORPHA:361
HP:0011793	Neoplasm by anatomical site	23530	NNT	ORPHA:361
HP:0011793	Neoplasm by anatomical site	10587	TXNRD2	ORPHA:361
HP:0011793	Neoplasm by anatomical site	1584	CYP11B1	ORPHA:90795
HP:0011793	Neoplasm by anatomical site	54	ACP5	ORPHA:1855
HP:0011793	Neoplasm by anatomical site	137682	NDUFAF6	OMIM:618913
HP:0011793	Neoplasm by anatomical site	399	RHOH	OMIM:618307
HP:0011793	Neoplasm by anatomical site	331	XIAP	OMIM:308240
HP:0011793	Neoplasm by anatomical site	4068	SH2D1A	OMIM:308240
HP:0011793	Neoplasm by anatomical site	2642	GCGR	ORPHA:438274
HP:0011793	Neoplasm by anatomical site	4194	MDM4	OMIM:618849
HP:0011793	Neoplasm by anatomical site	55135	WRAP53	OMIM:613988
HP:0011793	Neoplasm by anatomical site	81704	DOCK8	ORPHA:217390
HP:0011793	Neoplasm by anatomical site	89970	RSPRY1	ORPHA:457395
HP:0011793	Neoplasm by anatomical site	8622	PDE8B	ORPHA:189439
HP:0011793	Neoplasm by anatomical site	2131	EXT1	ORPHA:321
HP:0011793	Neoplasm by anatomical site	2132	EXT2	ORPHA:321
HP:0011793	Neoplasm by anatomical site	1280	COL2A1	OMIM:609162
HP:0011793	Neoplasm by anatomical site	55553	SOX6	OMIM:618971
HP:0011793	Neoplasm by anatomical site	1387	CREBBP	ORPHA:353277
HP:0011793	Neoplasm by anatomical site	1387	CREBBP	ORPHA:353281
HP:0011793	Neoplasm by anatomical site	9817	KEAP1	ORPHA:276399
HP:0011793	Neoplasm by anatomical site	1616	DAXX	ORPHA:100075
HP:0011793	Neoplasm by anatomical site	2313	FLI1	ORPHA:370348
HP:0011793	Neoplasm by anatomical site	25978	CHMP2B	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	5663	PSEN1	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	2896	GRN	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	54664	TMEM106B	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	4137	MAPT	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	7415	VCP	ORPHA:100070
HP:0011793	Neoplasm by anatomical site	3110	MNX1	ORPHA:1552
HP:0011793	Neoplasm by anatomical site	26040	SETBP1	OMIM:269150
HP:0011793	Neoplasm by anatomical site	26040	SETBP1	ORPHA:798
HP:0011793	Neoplasm by anatomical site	64324	NSD1	ORPHA:821
HP:0011793	Neoplasm by anatomical site	29072	SETD2	ORPHA:821
HP:0011793	Neoplasm by anatomical site	10297	APC2	ORPHA:821
HP:0011793	Neoplasm by anatomical site	23405	DICER1	OMIM:180295
HP:0011793	Neoplasm by anatomical site	80326	WNT10A	OMIM:224750
HP:0011793	Neoplasm by anatomical site	56983	POGLUT1	ORPHA:79145
HP:0011793	Neoplasm by anatomical site	23509	POFUT1	ORPHA:79145
HP:0011793	Neoplasm by anatomical site	55851	PSENEN	ORPHA:79145
HP:0011793	Neoplasm by anatomical site	920	CD4	OMIM:619238
HP:0011793	Neoplasm by anatomical site	22861	NLRP1	OMIM:618803
HP:0011793	Neoplasm by anatomical site	22861	NLRP1	OMIM:617388
HP:0011793	Neoplasm by anatomical site	490	ATP2B1	OMIM:619910
HP:0011793	Neoplasm by anatomical site	84868	HAVCR2	OMIM:618398
HP:0011793	Neoplasm by anatomical site	7174	TPP2	OMIM:619220
HP:0011793	Neoplasm by anatomical site	8216	LZTR1	OMIM:615670
HP:0011793	Neoplasm by anatomical site	55612	FERMT1	ORPHA:2908
HP:0011793	Neoplasm by anatomical site	3248	HPGD	ORPHA:2796
HP:0011793	Neoplasm by anatomical site	6578	SLCO2A1	ORPHA:2796
HP:0011793	Neoplasm by anatomical site	2130	EWSR1	ORPHA:83469
HP:0011793	Neoplasm by anatomical site	65998	ZFTA	ORPHA:251636
HP:0011793	Neoplasm by anatomical site	5970	RELA	ORPHA:251636
HP:0011793	Neoplasm by anatomical site	51360	MBTPS2	ORPHA:659
HP:0011793	Neoplasm by anatomical site	162514	TRPV3	ORPHA:659
HP:0011793	Neoplasm by anatomical site	64065	PERP	ORPHA:659
HP:0011793	Neoplasm by anatomical site	5978	REST	ORPHA:654
HP:0011793	Neoplasm by anatomical site	129563	DIS3L2	ORPHA:654
HP:0011793	Neoplasm by anatomical site	10155	TRIM28	ORPHA:654
HP:0011793	Neoplasm by anatomical site	11281	POU6F2	ORPHA:654
HP:0011793	Neoplasm by anatomical site	2719	GPC3	ORPHA:654
HP:0011793	Neoplasm by anatomical site	283120	H19	ORPHA:654
HP:0011793	Neoplasm by anatomical site	25802	LMOD1	ORPHA:2241
HP:0011793	Neoplasm by anatomical site	4629	MYH11	ORPHA:2241
HP:0011793	Neoplasm by anatomical site	72	ACTG2	ORPHA:2241
HP:0011793	Neoplasm by anatomical site	4638	MYLK	ORPHA:2241
HP:0011793	Neoplasm by anatomical site	5774	PTPN3	ORPHA:70567
HP:0011793	Neoplasm by anatomical site	410	ARSA	ORPHA:309271
HP:0011793	Neoplasm by anatomical site	5660	PSAP	ORPHA:309271
HP:0011793	Neoplasm by anatomical site	2859	GPR35	ORPHA:171
HP:0011793	Neoplasm by anatomical site	10507	SEMA4D	ORPHA:171
HP:0011793	Neoplasm by anatomical site	4485	MST1	ORPHA:171
HP:0011793	Neoplasm by anatomical site	115908	CTHRC1	OMIM:614266
HP:0011793	Neoplasm by anatomical site	4481	MSR1	OMIM:614266
HP:0011793	Neoplasm by anatomical site	51008	ASCC1	OMIM:614266
HP:0011793	Neoplasm by anatomical site	847	CAT	ORPHA:926
HP:0011793	Neoplasm by anatomical site	3339	HSPG2	ORPHA:800
HP:0011793	Neoplasm by anatomical site	10734	STAG3	OMIM:615723
HP:0011793	Neoplasm by anatomical site	4486	MST1R	OMIM:617075
HP:0011793	Neoplasm by anatomical site	10804	GJB6	ORPHA:477
HP:0011793	Neoplasm by anatomical site	2706	GJB2	ORPHA:477
HP:0011793	Neoplasm by anatomical site	23522	KAT6B	ORPHA:3047
HP:0011793	Neoplasm by anatomical site	4609	MYC	ORPHA:543
HP:0011793	Neoplasm by anatomical site	5324	PLAG1	OMIM:181030
HP:0011793	Neoplasm by anatomical site	23495	TNFRSF13B	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	4790	NFKB1	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	4791	NFKB2	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	115650	TNFRSF13C	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	1380	CR2	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	8742	TNFSF12	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	930	CD19	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	29851	ICOS	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	931	MS4A1	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	975	CD81	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	359948	IRF2BP2	ORPHA:1572
HP:0011793	Neoplasm by anatomical site	6786	STIM1	OMIM:612783
HP:0011793	Neoplasm by anatomical site	3569	IL6	OMIM:148000
HP:0011793	Neoplasm by anatomical site	7293	TNFRSF4	OMIM:615593
HP:0011793	Neoplasm by anatomical site	4693	NDP	ORPHA:649
HP:0011793	Neoplasm by anatomical site	79651	RHBDF2	ORPHA:2198
HP:0011793	Neoplasm by anatomical site	538	ATP7A	ORPHA:198
HP:0011793	Neoplasm by anatomical site	538	ATP7A	OMIM:304150
HP:0011793	Neoplasm by anatomical site	538	ATP7A	ORPHA:565
HP:0011793	Neoplasm by anatomical site	5885	RAD21	OMIM:614701
HP:0011793	Neoplasm by anatomical site	176	ACAN	OMIM:165800
HP:0011793	Neoplasm by anatomical site	60529	ALX4	ORPHA:52022
HP:0011793	Neoplasm by anatomical site	51317	PHF21A	ORPHA:52022
HP:0011793	Neoplasm by anatomical site	7227	TRPS1	ORPHA:502
HP:0011793	Neoplasm by anatomical site	6473	SHOX	ORPHA:240
HP:0011793	Neoplasm by anatomical site	1302	COL11A2	ORPHA:166100
HP:0011793	Neoplasm by anatomical site	3858	KRT10	ORPHA:312
HP:0011793	Neoplasm by anatomical site	3848	KRT1	ORPHA:312
HP:0011793	Neoplasm by anatomical site	3458	IFNG	ORPHA:805
HP:0011793	Neoplasm by anatomical site	7248	TSC1	ORPHA:805
HP:0011793	Neoplasm by anatomical site	7248	TSC1	ORPHA:538
HP:0011793	Neoplasm by anatomical site	7249	TSC2	ORPHA:805
HP:0011793	Neoplasm by anatomical site	7249	TSC2	ORPHA:538
HP:0011793	Neoplasm by anatomical site	9508	ADAMTS3	ORPHA:2136
HP:0011793	Neoplasm by anatomical site	147372	CCBE1	ORPHA:2136
HP:0011793	Neoplasm by anatomical site	79633	FAT4	ORPHA:2136
HP:0011793	Neoplasm by anatomical site	4854	NOTCH3	ORPHA:2591
HP:0011793	Neoplasm by anatomical site	5159	PDGFRB	ORPHA:2591
HP:0011793	Neoplasm by anatomical site	4952	OCRL	ORPHA:534
HP:0011793	Neoplasm by anatomical site	51057	WDPCP	ORPHA:1338
HP:0011793	Neoplasm by anatomical site	215	ABCD1	ORPHA:388
HP:0011793	Neoplasm by anatomical site	1889	ECE1	ORPHA:388
HP:0011793	Neoplasm by anatomical site	6720	SREBF1	ORPHA:388
HP:0011793	Neoplasm by anatomical site	223117	SEMA3D	ORPHA:388
HP:0011793	Neoplasm by anatomical site	1910	EDNRB	ORPHA:388
HP:0011793	Neoplasm by anatomical site	10512	SEMA3C	ORPHA:388
HP:0011793	Neoplasm by anatomical site	2065	ERBB3	ORPHA:388
HP:0011793	Neoplasm by anatomical site	4902	NRTN	ORPHA:388
HP:0011793	Neoplasm by anatomical site	1893	ECM1	ORPHA:530
HP:0011793	Neoplasm by anatomical site	8517	IKBKG	ORPHA:464
HP:0011793	Neoplasm by anatomical site	64421	DCLRE1C	ORPHA:275
HP:0011793	Neoplasm by anatomical site	11322	TMC6	OMIM:226400
HP:0011793	Neoplasm by anatomical site	11322	TMC6	ORPHA:302
HP:0011793	Neoplasm by anatomical site	10519	CIB1	OMIM:618267
HP:0011793	Neoplasm by anatomical site	10519	CIB1	ORPHA:302
HP:0011793	Neoplasm by anatomical site	146206	CARMIL2	OMIM:618131
HP:0011793	Neoplasm by anatomical site	8547	FCN3	OMIM:613860
HP:0011793	Neoplasm by anatomical site	10625	IVNS1ABP	OMIM:618969
HP:0011793	Neoplasm by anatomical site	488	ATP2A2	ORPHA:79151
HP:0011793	Neoplasm by anatomical site	54440	SASH3	OMIM:301082
HP:0011793	Neoplasm by anatomical site	6789	STK4	OMIM:614868
HP:0011793	Neoplasm by anatomical site	6929	TCF3	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	973	CD79A	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	974	CD79B	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	3543	IGLL1	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	3507	IGHM	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	29760	BLNK	ORPHA:33110
HP:0011793	Neoplasm by anatomical site	56262	LRRC8A	ORPHA:33110
HP:0011794	Embryonal renal neoplasm	5290	PIK3CA	OMIM:612918
HP:0011794	Embryonal renal neoplasm	5290	PIK3CA	ORPHA:276280
HP:0011794	Embryonal renal neoplasm	5290	PIK3CA	OMIM:602501
HP:0011794	Embryonal renal neoplasm	11281	POU6F2	OMIM:601583
HP:0011794	Embryonal renal neoplasm	11281	POU6F2	ORPHA:654
HP:0011794	Embryonal renal neoplasm	23405	DICER1	OMIM:180295
HP:0011794	Embryonal renal neoplasm	23405	DICER1	OMIM:618272
HP:0011794	Embryonal renal neoplasm	716	C1S	OMIM:617174
HP:0011794	Embryonal renal neoplasm	9158	FIBP	ORPHA:500095
HP:0011794	Embryonal renal neoplasm	9158	FIBP	OMIM:617107
HP:0011794	Embryonal renal neoplasm	9759	HDAC4	ORPHA:1001
HP:0011794	Embryonal renal neoplasm	5978	REST	OMIM:616806
HP:0011794	Embryonal renal neoplasm	5978	REST	ORPHA:654
HP:0011794	Embryonal renal neoplasm	7490	WT1	ORPHA:347
HP:0011794	Embryonal renal neoplasm	7490	WT1	ORPHA:220
HP:0011794	Embryonal renal neoplasm	7490	WT1	ORPHA:654
HP:0011794	Embryonal renal neoplasm	7490	WT1	OMIM:256370
HP:0011794	Embryonal renal neoplasm	7490	WT1	OMIM:194080
HP:0011794	Embryonal renal neoplasm	7490	WT1	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	7490	WT1	OMIM:194072
HP:0011794	Embryonal renal neoplasm	7490	WT1	OMIM:194070
HP:0011794	Embryonal renal neoplasm	2132	EXT2	ORPHA:52022
HP:0011794	Embryonal renal neoplasm	60529	ALX4	ORPHA:52022
HP:0011794	Embryonal renal neoplasm	51317	PHF21A	ORPHA:52022
HP:0011794	Embryonal renal neoplasm	79577	CDC73	ORPHA:143
HP:0011794	Embryonal renal neoplasm	79577	CDC73	OMIM:145001
HP:0011794	Embryonal renal neoplasm	79577	CDC73	ORPHA:99880
HP:0011794	Embryonal renal neoplasm	675	BRCA2	OMIM:613029
HP:0011794	Embryonal renal neoplasm	675	BRCA2	ORPHA:654
HP:0011794	Embryonal renal neoplasm	675	BRCA2	OMIM:194070
HP:0011794	Embryonal renal neoplasm	79728	PALB2	OMIM:610832
HP:0011794	Embryonal renal neoplasm	9319	TRIP13	ORPHA:654
HP:0011794	Embryonal renal neoplasm	9319	TRIP13	OMIM:617598
HP:0011794	Embryonal renal neoplasm	9319	TRIP13	ORPHA:1052
HP:0011794	Embryonal renal neoplasm	10155	TRIM28	ORPHA:654
HP:0011794	Embryonal renal neoplasm	2719	GPC3	ORPHA:654
HP:0011794	Embryonal renal neoplasm	2719	GPC3	ORPHA:373
HP:0011794	Embryonal renal neoplasm	2719	GPC3	OMIM:312870
HP:0011794	Embryonal renal neoplasm	2719	GPC3	OMIM:194070
HP:0011794	Embryonal renal neoplasm	283120	H19	ORPHA:654
HP:0011794	Embryonal renal neoplasm	283120	H19	ORPHA:2128
HP:0011794	Embryonal renal neoplasm	283120	H19	OMIM:194070
HP:0011794	Embryonal renal neoplasm	3481	IGF2	ORPHA:2128
HP:0011794	Embryonal renal neoplasm	3481	IGF2	OMIM:130650
HP:0011794	Embryonal renal neoplasm	3481	IGF2	OMIM:180860
HP:0011794	Embryonal renal neoplasm	3481	IGF2	OMIM:194070
HP:0011794	Embryonal renal neoplasm	10984	KCNQ1OT1	ORPHA:2128
HP:0011794	Embryonal renal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0011794	Embryonal renal neoplasm	2239	GPC4	ORPHA:373
HP:0011794	Embryonal renal neoplasm	2239	GPC4	OMIM:312870
HP:0011794	Embryonal renal neoplasm	2239	GPC4	OMIM:194070
HP:0011794	Embryonal renal neoplasm	1028	CDKN1C	OMIM:130650
HP:0011794	Embryonal renal neoplasm	3784	KCNQ1	OMIM:130650
HP:0011794	Embryonal renal neoplasm	7157	TP53	OMIM:151623
HP:0011794	Embryonal renal neoplasm	3265	HRAS	ORPHA:2874
HP:0011794	Embryonal renal neoplasm	701	BUB1B	OMIM:257300
HP:0011794	Embryonal renal neoplasm	701	BUB1B	ORPHA:1052
HP:0011794	Embryonal renal neoplasm	5727	PTCH1	ORPHA:77301
HP:0011794	Embryonal renal neoplasm	641	BLM	ORPHA:125
HP:0011794	Embryonal renal neoplasm	171023	ASXL1	ORPHA:97297
HP:0011794	Embryonal renal neoplasm	9184	BUB3	ORPHA:1052
HP:0011794	Embryonal renal neoplasm	699	BUB1	ORPHA:1052
HP:0011794	Embryonal renal neoplasm	9702	CEP57	ORPHA:1052
HP:0011794	Embryonal renal neoplasm	4591	TRIM37	OMIM:253250
HP:0011794	Embryonal renal neoplasm	6662	SOX9	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	6845	VAMP7	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	51741	WWOX	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	4214	MAP3K1	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	2516	NR5A1	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	58524	DMRT3	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	57647	DHX37	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	6736	SRY	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	190	NR0B1	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	2626	GATA4	ORPHA:251510
HP:0011794	Embryonal renal neoplasm	161742	SPRED1	ORPHA:137605
HP:0011794	Embryonal renal neoplasm	5080	PAX6	OMIM:194072
HP:0011794	Embryonal renal neoplasm	26040	SETBP1	ORPHA:798
HP:0011794	Embryonal renal neoplasm	129563	DIS3L2	OMIM:267000
HP:0011794	Embryonal renal neoplasm	168667	BMPER	OMIM:608022
HP:0011790	Activating thyroid-stimulating hormone receptor defect	7253	TSHR	ORPHA:99819
HP:0011790	Activating thyroid-stimulating hormone receptor defect	7253	TSHR	ORPHA:424
HP:0008743	Coronal hypospadias	10606	PAICS	OMIM:619859
HP:0008743	Coronal hypospadias	2263	FGFR2	OMIM:149730
HP:0008743	Coronal hypospadias	50945	TBX22	ORPHA:921
HP:0008744	Abnormal aryepiglottic fold morphology	9775	EIF4A3	OMIM:268305
HP:0001580	Pigmented micronodular adrenocortical disease	5566	PRKACA	ORPHA:189439
HP:0001580	Pigmented micronodular adrenocortical disease	8622	PDE8B	ORPHA:189439
HP:0001580	Pigmented micronodular adrenocortical disease	5573	PRKAR1A	ORPHA:189439
HP:0001580	Pigmented micronodular adrenocortical disease	5573	PRKAR1A	OMIM:610489
HP:0001580	Pigmented micronodular adrenocortical disease	5573	PRKAR1A	ORPHA:1359
HP:0001580	Pigmented micronodular adrenocortical disease	50940	PDE11A	ORPHA:189439
HP:0001580	Pigmented micronodular adrenocortical disease	50940	PDE11A	OMIM:610475
HP:0001580	Pigmented micronodular adrenocortical disease	50940	PDE11A	ORPHA:1359
HP:0001581	Recurrent skin infections	3587	IL10RA	OMIM:613148
HP:0001581	Recurrent skin infections	695	BTK	OMIM:300755
HP:0001581	Recurrent skin infections	695	BTK	OMIM:307200
HP:0001581	Recurrent skin infections	331	XIAP	OMIM:300635
HP:0001581	Recurrent skin infections	59335	PRDM12	OMIM:616488
HP:0001581	Recurrent skin infections	83706	FERMT3	OMIM:612840
HP:0001581	Recurrent skin infections	3570	IL6R	OMIM:618944
HP:0001581	Recurrent skin infections	3426	CFI	OMIM:610984
HP:0001581	Recurrent skin infections	54440	SASH3	OMIM:301082
HP:0001581	Recurrent skin infections	11322	TMC6	ORPHA:302
HP:0001581	Recurrent skin infections	3574	IL7	ORPHA:302
HP:0001581	Recurrent skin infections	147138	TMC8	ORPHA:302
HP:0001581	Recurrent skin infections	10519	CIB1	ORPHA:302
HP:0001581	Recurrent skin infections	3655	ITGA6	ORPHA:79403
HP:0001581	Recurrent skin infections	3691	ITGB4	ORPHA:79403
HP:0001581	Recurrent skin infections	3909	LAMA3	ORPHA:79404
HP:0001581	Recurrent skin infections	3918	LAMC2	ORPHA:79404
HP:0001581	Recurrent skin infections	3914	LAMB3	ORPHA:79404
HP:0001581	Recurrent skin infections	113189	CHST14	OMIM:601776
HP:0001581	Recurrent skin infections	113189	CHST14	ORPHA:2953
HP:0001581	Recurrent skin infections	51360	MBTPS2	OMIM:308205
HP:0001581	Recurrent skin infections	4312	MMP1	ORPHA:79408
HP:0001581	Recurrent skin infections	1294	COL7A1	ORPHA:79408
HP:0001581	Recurrent skin infections	1294	COL7A1	ORPHA:89842
HP:0001581	Recurrent skin infections	27086	FOXP1	ORPHA:391372
HP:0001581	Recurrent skin infections	10525	HYOU1	OMIM:233600
HP:0001581	Recurrent skin infections	4780	NFE2L2	OMIM:617744
HP:0001581	Recurrent skin infections	11005	SPINK5	OMIM:256500
HP:0001581	Recurrent skin infections	4790	NFKB1	OMIM:616576
HP:0001581	Recurrent skin infections	5294	PIK3CG	OMIM:619802
HP:0001581	Recurrent skin infections	9837	GINS1	OMIM:617827
HP:0001581	Recurrent skin infections	11128	POLR3A	ORPHA:3455
HP:0001581	Recurrent skin infections	1991	ELANE	ORPHA:2686
HP:0001581	Recurrent skin infections	1991	ELANE	ORPHA:486
HP:0001581	Recurrent skin infections	5317	PKP1	ORPHA:158668
HP:0001581	Recurrent skin infections	55612	FERMT1	ORPHA:2908
HP:0001581	Recurrent skin infections	4615	MYD88	OMIM:612260
HP:0001581	Recurrent skin infections	85358	SHANK3	ORPHA:48652
HP:0001581	Recurrent skin infections	29940	DSE	ORPHA:2953
HP:0001581	Recurrent skin infections	57591	MRTFA	OMIM:618847
HP:0001581	Recurrent skin infections	50943	FOXP3	ORPHA:37042
HP:0001581	Recurrent skin infections	686	BTD	OMIM:253260
HP:0001581	Recurrent skin infections	2303	FOXC2	ORPHA:33001
HP:0001581	Recurrent skin infections	2050	EPHB4	ORPHA:90186
HP:0001581	Recurrent skin infections	10312	TCIRG1	ORPHA:486
HP:0001581	Recurrent skin infections	2672	GFI1	ORPHA:486
HP:0001581	Recurrent skin infections	6729	SRP54	ORPHA:486
HP:0001581	Recurrent skin infections	81570	CLPB	ORPHA:486
HP:0001581	Recurrent skin infections	3848	KRT1	ORPHA:79503
HP:0001581	Recurrent skin infections	6850	SYK	OMIM:619381
HP:0001581	Recurrent skin infections	57165	GJC2	OMIM:613480
HP:0001581	Recurrent skin infections	26258	BLOC1S6	OMIM:614171
HP:0001581	Recurrent skin infections	4153	MBL2	OMIM:614372
HP:0001581	Recurrent skin infections	1828	DSG1	OMIM:615508
HP:0001581	Recurrent skin infections	3852	KRT5	ORPHA:79396
HP:0001581	Recurrent skin infections	3861	KRT14	ORPHA:79396
HP:0001581	Recurrent skin infections	8883	NAE1	OMIM:620210
HP:0001581	Recurrent skin infections	6929	TCF3	ORPHA:33110
HP:0001581	Recurrent skin infections	973	CD79A	ORPHA:33110
HP:0001581	Recurrent skin infections	974	CD79B	ORPHA:33110
HP:0001581	Recurrent skin infections	3543	IGLL1	ORPHA:33110
HP:0001581	Recurrent skin infections	3507	IGHM	ORPHA:33110
HP:0001581	Recurrent skin infections	29760	BLNK	ORPHA:33110
HP:0001581	Recurrent skin infections	5295	PIK3R1	ORPHA:33110
HP:0001581	Recurrent skin infections	56262	LRRC8A	ORPHA:33110
HP:0001581	Recurrent skin infections	57724	EPG5	OMIM:242840
HP:0001581	Recurrent skin infections	3689	ITGB2	OMIM:116920
HP:0001581	Recurrent skin infections	5994	RFXAP	ORPHA:572
HP:0001581	Recurrent skin infections	5994	RFXAP	OMIM:209920
HP:0001581	Recurrent skin infections	4261	CIITA	ORPHA:572
HP:0001581	Recurrent skin infections	4261	CIITA	OMIM:209920
HP:0001581	Recurrent skin infections	5993	RFX5	ORPHA:572
HP:0001581	Recurrent skin infections	5993	RFX5	OMIM:209920
HP:0001581	Recurrent skin infections	8625	RFXANK	ORPHA:572
HP:0001581	Recurrent skin infections	8625	RFXANK	OMIM:209920
HP:0001581	Recurrent skin infections	10043	TOM1	ORPHA:391487
HP:0001581	Recurrent skin infections	3572	IL6ST	OMIM:619752
HP:0001581	Recurrent skin infections	100	ADA	OMIM:102700
HP:0001581	Recurrent skin infections	84818	IL17RC	OMIM:616445
HP:0001581	Recurrent skin infections	5238	PGM3	OMIM:615816
HP:0001581	Recurrent skin infections	112744	IL17F	OMIM:613956
HP:0001581	Recurrent skin infections	3575	IL7R	OMIM:608971
HP:0001581	Recurrent skin infections	3431	SP110	ORPHA:79124
HP:0001581	Recurrent skin infections	6720	SREBF1	OMIM:158310
HP:0001581	Recurrent skin infections	6774	STAT3	OMIM:147060
HP:0001581	Recurrent skin infections	146206	CARMIL2	OMIM:618131
HP:0001581	Recurrent skin infections	1130	LYST	ORPHA:167
HP:0001581	Recurrent skin infections	1130	LYST	OMIM:214500
HP:0001581	Recurrent skin infections	1536	CYBB	OMIM:306400
HP:0001581	Recurrent skin infections	4688	NCF2	OMIM:233710
HP:0001581	Recurrent skin infections	653361	NCF1	OMIM:233700
HP:0001581	Recurrent skin infections	1535	CYBA	OMIM:233690
HP:0001581	Recurrent skin infections	7390	UROS	ORPHA:79277
HP:0001581	Recurrent skin infections	2623	GATA1	ORPHA:79277
HP:0001581	Recurrent skin infections	6868	ADAM17	ORPHA:294023
HP:0001581	Recurrent skin infections	1956	EGFR	ORPHA:294023
HP:0001581	Recurrent skin infections	7389	UROD	ORPHA:95159
HP:0001581	Recurrent skin infections	81704	DOCK8	ORPHA:217390
HP:0001581	Recurrent skin infections	64170	CARD9	OMIM:212050
HP:0001581	Recurrent skin infections	84905	ZNF341	OMIM:618282
HP:0001581	Recurrent skin infections	915	CD3D	ORPHA:169160
HP:0001581	Recurrent skin infections	916	CD3E	ORPHA:169160
HP:0001581	Recurrent skin infections	919	CD247	ORPHA:169160
HP:0001581	Recurrent skin infections	64421	DCLRE1C	ORPHA:275
HP:0001581	Recurrent skin infections	3551	IKBKB	OMIM:615592
HP:0001581	Recurrent skin infections	6772	STAT1	OMIM:614162
HP:0001581	Recurrent skin infections	326	AIRE	OMIM:240300
HP:0001581	Recurrent skin infections	7037	TFRC	OMIM:616740
HP:0001581	Recurrent skin infections	4598	MVK	OMIM:260920
HP:0001581	Recurrent skin infections	3932	LCK	OMIM:615758
HP:0001581	Recurrent skin infections	959	CD40LG	OMIM:308230
HP:0001581	Recurrent skin infections	5293	PIK3CD	ORPHA:221139
HP:0001581	Recurrent skin infections	90417	KNSTRN	ORPHA:221139
HP:0001581	Recurrent skin infections	8546	AP3B1	OMIM:608233
HP:0001581	Recurrent skin infections	51311	TLR8	OMIM:301078
HP:0001581	Recurrent skin infections	9948	WDR1	OMIM:150550
HP:0001581	Recurrent skin infections	28755	TRAC	OMIM:615387
HP:0001581	Recurrent skin infections	11151	CORO1A	OMIM:615401
HP:0001581	Recurrent skin infections	1794	DOCK2	OMIM:616433
HP:0001581	Recurrent skin infections	10758	TRAF3IP2	OMIM:615527
HP:0001581	Recurrent skin infections	917	CD3G	OMIM:615607
HP:0001581	Recurrent skin infections	7535	ZAP70	ORPHA:911
HP:0001581	Recurrent skin infections	3559	IL2RA	OMIM:606367
HP:0001581	Recurrent skin infections	3718	JAK3	ORPHA:35078
HP:0001581	Recurrent skin infections	90268	OTULIN	OMIM:619986
HP:0001581	Recurrent skin infections	55851	PSENEN	OMIM:613736
HP:0001581	Recurrent skin infections	5663	PSEN1	OMIM:613737
HP:0001581	Recurrent skin infections	1075	CTSC	ORPHA:678
HP:0001581	Recurrent skin infections	6097	RORC	OMIM:616622
HP:0001581	Recurrent skin infections	3561	IL2RG	ORPHA:276
HP:0001581	Recurrent skin infections	10804	GJB6	ORPHA:477
HP:0001581	Recurrent skin infections	2706	GJB2	ORPHA:477
HP:0001581	Recurrent skin infections	84196	USP48	ORPHA:96253
HP:0001581	Recurrent skin infections	7157	TP53	ORPHA:96253
HP:0001581	Recurrent skin infections	9101	USP8	ORPHA:96253
HP:0001581	Recurrent skin infections	64072	CDH23	ORPHA:96253
HP:0001581	Recurrent skin infections	2908	NR3C1	ORPHA:96253
HP:0001581	Recurrent skin infections	673	BRAF	ORPHA:96253
HP:0001581	Recurrent skin infections	546	ATRX	ORPHA:96253
HP:0001581	Recurrent skin infections	23765	IL17RA	OMIM:613953
HP:0001581	Recurrent skin infections	64581	CLEC7A	OMIM:613108
HP:0001581	Recurrent skin infections	3937	LCP2	OMIM:619374
HP:0001581	Recurrent skin infections	7319	UBE2A	ORPHA:163956
HP:0001582	Redundant skin	6197	RPS6KA3	ORPHA:192
HP:0001582	Redundant skin	2261	FGFR3	OMIM:616482
HP:0001582	Redundant skin	2261	FGFR3	ORPHA:93274
HP:0001582	Redundant skin	2261	FGFR3	ORPHA:1860
HP:0001582	Redundant skin	8425	LTBP4	OMIM:613177
HP:0001582	Redundant skin	9791	PTDSS1	ORPHA:2658
HP:0001582	Redundant skin	29957	SLC25A24	OMIM:612289
HP:0001582	Redundant skin	29957	SLC25A24	ORPHA:2963
HP:0001582	Redundant skin	117581	TWIST2	OMIM:209885
HP:0001582	Redundant skin	117581	TWIST2	OMIM:200110
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:1231
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:920
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:1807
HP:0001582	Redundant skin	2677	GGCX	ORPHA:436274
HP:0001582	Redundant skin	2677	GGCX	ORPHA:91135
HP:0001582	Redundant skin	6804	STX1A	ORPHA:904
HP:0001582	Redundant skin	7461	CLIP2	ORPHA:904
HP:0001582	Redundant skin	84277	DNAJC30	ORPHA:904
HP:0001582	Redundant skin	8468	FKBP6	ORPHA:904
HP:0001582	Redundant skin	5982	RFC2	ORPHA:904
HP:0001582	Redundant skin	2969	GTF2I	ORPHA:904
HP:0001582	Redundant skin	3984	LIMK1	ORPHA:904
HP:0001582	Redundant skin	9569	GTF2IRD1	ORPHA:904
HP:0001582	Redundant skin	155382	VPS37D	ORPHA:904
HP:0001582	Redundant skin	155368	METTL27	ORPHA:904
HP:0001582	Redundant skin	114049	BUD23	ORPHA:904
HP:0001582	Redundant skin	7458	EIF4H	ORPHA:904
HP:0001582	Redundant skin	84163	GTF2IRD2	ORPHA:904
HP:0001582	Redundant skin	9275	BCL7B	ORPHA:904
HP:0001582	Redundant skin	26608	TBL2	ORPHA:904
HP:0001582	Redundant skin	653361	NCF1	ORPHA:904
HP:0001582	Redundant skin	135886	TMEM270	ORPHA:904
HP:0001582	Redundant skin	51085	MLXIPL	ORPHA:904
HP:0001582	Redundant skin	9031	BAZ1B	ORPHA:904
HP:0001582	Redundant skin	2006	ELN	ORPHA:904
HP:0001582	Redundant skin	2006	ELN	OMIM:123700
HP:0001582	Redundant skin	2006	ELN	ORPHA:90348
HP:0001582	Redundant skin	3008	H1-4	OMIM:617537
HP:0001582	Redundant skin	81031	SLC2A10	ORPHA:3342
HP:0001582	Redundant skin	538	ATP7A	OMIM:304150
HP:0001582	Redundant skin	3248	HPGD	OMIM:259100
HP:0001582	Redundant skin	23545	ATP6V0A2	OMIM:219200
HP:0001582	Redundant skin	23545	ATP6V0A2	ORPHA:357074
HP:0001582	Redundant skin	23545	ATP6V0A2	OMIM:278250
HP:0001582	Redundant skin	2131	EXT1	ORPHA:502
HP:0001582	Redundant skin	7227	TRPS1	ORPHA:502
HP:0001582	Redundant skin	5308	PITX2	ORPHA:782
HP:0001582	Redundant skin	2296	FOXC1	ORPHA:782
HP:0001582	Redundant skin	6535	SLC6A8	ORPHA:52503
HP:0001582	Redundant skin	54453	RIN2	ORPHA:217335
HP:0001582	Redundant skin	54453	RIN2	OMIM:613075
HP:0001582	Redundant skin	26281	FGF20	OMIM:615721
HP:0001582	Redundant skin	54539	NDUFB11	OMIM:301021
HP:0001582	Redundant skin	523	ATP6V1A	ORPHA:357074
HP:0001582	Redundant skin	523	ATP6V1A	OMIM:617403
HP:0001582	Redundant skin	529	ATP6V1E1	ORPHA:357074
HP:0001582	Redundant skin	165	AEBP1	OMIM:618000
HP:0001582	Redundant skin	165	AEBP1	ORPHA:536532
HP:0001582	Redundant skin	8260	NAA10	OMIM:300855
HP:0001582	Redundant skin	113189	CHST14	ORPHA:2953
HP:0001582	Redundant skin	29940	DSE	ORPHA:2953
HP:0001582	Redundant skin	84168	ANTXR1	OMIM:230740
HP:0001582	Redundant skin	10516	FBLN5	ORPHA:90348
HP:0001582	Redundant skin	10516	FBLN5	ORPHA:90349
HP:0001582	Redundant skin	10516	FBLN5	OMIM:219100
HP:0001582	Redundant skin	5832	ALDH18A1	ORPHA:90348
HP:0001582	Redundant skin	4052	LTBP1	ORPHA:90349
HP:0001582	Redundant skin	30008	EFEMP2	ORPHA:90349
HP:0001582	Redundant skin	5831	PYCR1	OMIM:612940
HP:0001582	Redundant skin	5831	PYCR1	ORPHA:2078
HP:0001582	Redundant skin	92344	GORAB	ORPHA:2078
HP:0001582	Redundant skin	5604	MAP2K1	ORPHA:1340
HP:0001582	Redundant skin	5605	MAP2K2	ORPHA:1340
HP:0001582	Redundant skin	3845	KRAS	ORPHA:1340
HP:0001582	Redundant skin	673	BRAF	ORPHA:1340
HP:0001582	Redundant skin	10225	CD96	ORPHA:1308
HP:0001582	Redundant skin	79087	ALG12	ORPHA:79324
HP:0001582	Redundant skin	64324	NSD1	ORPHA:3447
HP:0001582	Redundant skin	8726	EED	ORPHA:3447
HP:0001582	Redundant skin	23512	SUZ12	ORPHA:3447
HP:0001582	Redundant skin	2146	EZH2	ORPHA:3447
HP:0001582	Redundant skin	3265	HRAS	ORPHA:3071
HP:0001582	Redundant skin	1281	COL3A1	ORPHA:286
HP:0001582	Redundant skin	9509	ADAMTS2	OMIM:225410
HP:0001582	Redundant skin	2879	GPX4	OMIM:250220
HP:0001582	Redundant skin	84231	TRAF7	OMIM:618164
HP:0001582	Redundant skin	54496	PRMT7	OMIM:617157
HP:0001582	Redundant skin	55165	CEP55	OMIM:236500
HP:0001582	Redundant skin	6913	TBX15	ORPHA:93333
HP:0001582	Redundant skin	55593	OTUD5	OMIM:301056
HP:0001582	Redundant skin	9896	FIG4	OMIM:216340
HP:0001582	Redundant skin	9896	FIG4	ORPHA:3472
HP:0001582	Redundant skin	56945	MRPS22	OMIM:611719
HP:0001582	Redundant skin	79848	CSPP1	ORPHA:397715
HP:0001582	Redundant skin	9786	KIAA0586	ORPHA:397715
HP:0001582	Redundant skin	10682	EBP	OMIM:300960
HP:0001582	Redundant skin	55697	VAC14	ORPHA:3472
HP:0001582	Redundant skin	4716	NDUFB10	OMIM:619003
HP:0001582	Redundant skin	285590	SH3PXD2B	OMIM:249420
HP:0001582	Redundant skin	22884	WDR37	OMIM:618652
HP:0001582	Redundant skin	2623	GATA1	OMIM:190685
HP:0001582	Redundant skin	8621	CDK13	OMIM:617360
HP:0001582	Redundant skin	388015	RTL1	ORPHA:254528
HP:0001582	Redundant skin	388015	RTL1	ORPHA:96334
HP:0001582	Redundant skin	8788	DLK1	ORPHA:254528
HP:0001582	Redundant skin	8788	DLK1	ORPHA:96334
HP:0001582	Redundant skin	55384	MEG3	ORPHA:254528
HP:0001582	Redundant skin	55384	MEG3	ORPHA:96334
HP:0001582	Redundant skin	2263	FGFR2	OMIM:123790
HP:0001582	Redundant skin	51021	MRPS16	OMIM:610498
HP:0001582	Redundant skin	124997	WDR81	OMIM:617967
HP:0001582	Redundant skin	2683	B4GALT1	ORPHA:79332
HP:0001582	Redundant skin	5189	PEX1	OMIM:214100
HP:0001582	Redundant skin	4882	NPR2	OMIM:602875
HP:0001583	Rotary nystagmus	261734	NPHP4	OMIM:606996
HP:0001583	Rotary nystagmus	5354	PLP1	OMIM:312080
HP:0001583	Rotary nystagmus	5917	RARS1	OMIM:616140
HP:0001583	Rotary nystagmus	91452	ACBD5	OMIM:618863
HP:0001583	Rotary nystagmus	5528	PPP2R5D	ORPHA:457279
HP:0001583	Rotary nystagmus	60529	ALX4	OMIM:613451
HP:0001583	Rotary nystagmus	51660	MPC1	OMIM:614741
HP:0001583	Rotary nystagmus	64834	ELOVL1	OMIM:618527
HP:0001583	Rotary nystagmus	9894	TELO2	ORPHA:488642
HP:0001583	Rotary nystagmus	9894	TELO2	OMIM:616954
HP:0001583	Rotary nystagmus	8777	MPDZ	OMIM:615219
HP:0001583	Rotary nystagmus	51259	TMEM216	OMIM:608091
HP:0001583	Rotary nystagmus	1201	CLN3	ORPHA:228346
HP:0001583	Rotary nystagmus	2671	GFER	ORPHA:330054
HP:0001583	Rotary nystagmus	1130	LYST	ORPHA:167
HP:0001583	Rotary nystagmus	11160	ERLIN2	ORPHA:209951
HP:0001583	Rotary nystagmus	57165	GJC2	OMIM:608804
HP:0001583	Rotary nystagmus	129285	PPP1R21	OMIM:619383
HP:0001583	Rotary nystagmus	6712	SPTBN2	OMIM:600224
HP:0001583	Rotary nystagmus	6567	SLC16A2	OMIM:300523
HP:0001583	Rotary nystagmus	55163	PNPO	OMIM:610090
HP:0001583	Rotary nystagmus	54903	MKS1	OMIM:249000
HP:0001583	Rotary nystagmus	54664	TMEM106B	OMIM:617964
HP:0001583	Rotary nystagmus	3781	KCNN2	OMIM:619724
HP:0001586	Vesicovaginal fistula	8195	MKKS	OMIM:236700
HP:0001586	Vesicovaginal fistula	5447	POR	OMIM:201750
HP:0001586	Vesicovaginal fistula	7355	SLC35A2	OMIM:300896
HP:0008754	Laryngeal calcification	3930	LBR	OMIM:215140
HP:0008754	Laryngeal calcification	415	ARSL	ORPHA:79345
HP:0008754	Laryngeal calcification	5745	PTH1R	OMIM:215045
HP:0001604	Vocal cord paresis	9361	LONP1	OMIM:600373
HP:0001604	Vocal cord paresis	54332	GDAP1	OMIM:607706
HP:0001604	Vocal cord paresis	54332	GDAP1	ORPHA:99948
HP:0001604	Vocal cord paresis	54332	GDAP1	ORPHA:101097
HP:0001604	Vocal cord paresis	60482	SLC5A7	OMIM:158580
HP:0001604	Vocal cord paresis	182	JAG1	OMIM:619574
HP:0001604	Vocal cord paresis	57716	PRX	OMIM:614895
HP:0001604	Vocal cord paresis	59341	TRPV4	OMIM:606071
HP:0001604	Vocal cord paresis	79628	SH3TC2	ORPHA:99949
HP:0001604	Vocal cord paresis	9927	MFN2	OMIM:601152
HP:0001604	Vocal cord paresis	9782	MATR3	ORPHA:600
HP:0001604	Vocal cord paresis	10755	GIPC1	ORPHA:98897
HP:0001604	Vocal cord paresis	100996717	NOTCH2NLC	ORPHA:98897
HP:0001604	Vocal cord paresis	23498	HAAO	OMIM:617660
HP:0001604	Vocal cord paresis	667	DST	OMIM:614653
HP:0008747	Cartilaginous ossification of larynx	3930	LBR	OMIM:215140
HP:0008747	Cartilaginous ossification of larynx	4256	MGP	OMIM:245150
HP:0008750	Laryngeal atresia	2187	FANCB	OMIM:314390
HP:0008750	Laryngeal atresia	7547	ZIC3	OMIM:314390
HP:0008750	Laryngeal atresia	80144	FRAS1	OMIM:219000
HP:0008751	Laryngeal cleft	4281	MID1	ORPHA:2745
HP:0008751	Laryngeal cleft	4281	MID1	OMIM:300000
HP:0008751	Laryngeal cleft	2737	GLI3	ORPHA:672
HP:0008751	Laryngeal cleft	2737	GLI3	OMIM:146510
HP:0008751	Laryngeal cleft	6650	CAPN15	OMIM:619318
HP:0008751	Laryngeal cleft	1906	EDN1	OMIM:615706
HP:0008751	Laryngeal cleft	55294	FBXW7	OMIM:620012
HP:0008751	Laryngeal cleft	55023	PHIP	OMIM:617991
HP:0008751	Laryngeal cleft	6711	SPTBN1	OMIM:619475
HP:0008753	Aplasia of the epiglottis	26005	C2CD3	OMIM:615948
HP:0008753	Aplasia of the epiglottis	26005	C2CD3	ORPHA:434179
HP:0008753	Aplasia of the epiglottis	51626	DYNC2LI1	OMIM:617088
HP:0008753	Aplasia of the epiglottis	9775	EIF4A3	OMIM:268305
HP:0001592	Selective tooth agenesis	641	BLM	OMIM:210900
HP:0001592	Selective tooth agenesis	2071	ERCC3	OMIM:616390
HP:0001592	Selective tooth agenesis	8260	NAA10	OMIM:309800
HP:0001592	Selective tooth agenesis	54880	BCOR	OMIM:309800
HP:0001592	Selective tooth agenesis	2260	FGFR1	ORPHA:99798
HP:0001592	Selective tooth agenesis	4487	MSX1	ORPHA:99798
HP:0001592	Selective tooth agenesis	128178	EDARADD	ORPHA:99798
HP:0001592	Selective tooth agenesis	5083	PAX9	ORPHA:99798
HP:0001592	Selective tooth agenesis	7341	SUMO1	ORPHA:99798
HP:0001592	Selective tooth agenesis	80326	WNT10A	ORPHA:99798
HP:0001592	Selective tooth agenesis	8313	AXIN2	ORPHA:99798
HP:0001592	Selective tooth agenesis	3664	IRF6	ORPHA:99798
HP:0001592	Selective tooth agenesis	4040	LRP6	ORPHA:99798
HP:0001592	Selective tooth agenesis	7039	TGFA	ORPHA:99798
HP:0001592	Selective tooth agenesis	145173	B3GLCT	OMIM:261540
HP:0001592	Selective tooth agenesis	8626	TP63	OMIM:106260
HP:0001592	Selective tooth agenesis	8626	TP63	OMIM:604292
HP:0001592	Selective tooth agenesis	7480	WNT10B	OMIM:617073
HP:0001592	Selective tooth agenesis	2316	FLNA	OMIM:305620
HP:0001592	Selective tooth agenesis	2316	FLNA	OMIM:311300
HP:0001592	Selective tooth agenesis	64388	GREM2	OMIM:617275
HP:0001592	Selective tooth agenesis	1001	CDH3	OMIM:225280
HP:0001592	Selective tooth agenesis	1001	CDH3	ORPHA:1897
HP:0001592	Selective tooth agenesis	545	ATR	OMIM:210600
HP:0001592	Selective tooth agenesis	1896	EDA	OMIM:313500
HP:0001592	Selective tooth agenesis	526	ATP6V1B2	OMIM:124480
HP:0001592	Selective tooth agenesis	22995	CEP152	OMIM:613823
HP:0001592	Selective tooth agenesis	2697	GJA1	OMIM:164200
HP:0001592	Selective tooth agenesis	4750	NEK1	ORPHA:2751
HP:0001592	Selective tooth agenesis	9775	EIF4A3	OMIM:268305
HP:0001592	Selective tooth agenesis	2736	GLI2	OMIM:610829
HP:0001592	Selective tooth agenesis	1747	DLX3	ORPHA:3352
HP:0001592	Selective tooth agenesis	9578	CDC42BPB	OMIM:619841
HP:0001592	Selective tooth agenesis	1009	CDH11	OMIM:211380
HP:0001592	Selective tooth agenesis	2248	FGF3	ORPHA:2791
HP:0001592	Selective tooth agenesis	6938	TCF12	OMIM:619718
HP:0001592	Selective tooth agenesis	83479	DDX59	ORPHA:2919
HP:0001592	Selective tooth agenesis	1748	DLX4	OMIM:616788
HP:0001592	Selective tooth agenesis	1748	DLX4	ORPHA:199306
HP:0001592	Selective tooth agenesis	5818	NECTIN1	ORPHA:199306
HP:0001592	Selective tooth agenesis	1739	DLG1	ORPHA:199306
HP:0001592	Selective tooth agenesis	652	BMP4	ORPHA:199306
HP:0001592	Selective tooth agenesis	999	CDH1	ORPHA:199306
HP:0001592	Selective tooth agenesis	5156	PDGFRA	ORPHA:199306
HP:0001592	Selective tooth agenesis	9411	ARHGAP29	ORPHA:199306
HP:0001592	Selective tooth agenesis	54101	RIPK4	ORPHA:1401
HP:0001595	Abnormal hair morphology	3479	IGF1	ORPHA:73272
HP:0001595	Abnormal hair morphology	11113	CIT	OMIM:617090
HP:0001595	Abnormal hair morphology	25970	SH2B1	ORPHA:261222
HP:0001595	Abnormal hair morphology	6909	TBX2	OMIM:618223
HP:0001595	Abnormal hair morphology	8818	DPM2	ORPHA:329178
HP:0001595	Abnormal hair morphology	7545	ZIC1	OMIM:616602
HP:0001595	Abnormal hair morphology	7545	ZIC1	OMIM:618736
HP:0001595	Abnormal hair morphology	57465	TBC1D24	OMIM:220500
HP:0001595	Abnormal hair morphology	57465	TBC1D24	ORPHA:79500
HP:0001595	Abnormal hair morphology	318	NUDT2	OMIM:619844
HP:0001595	Abnormal hair morphology	55870	ASH1L	OMIM:617796
HP:0001595	Abnormal hair morphology	79029	AFG2B	OMIM:619616
HP:0001595	Abnormal hair morphology	23065	EMC1	OMIM:616875
HP:0001595	Abnormal hair morphology	23065	EMC1	ORPHA:480898
HP:0001595	Abnormal hair morphology	59336	PRDM13	OMIM:619909
HP:0001595	Abnormal hair morphology	9895	TECPR2	OMIM:615031
HP:0001595	Abnormal hair morphology	9895	TECPR2	ORPHA:320385
HP:0001595	Abnormal hair morphology	6938	TCF12	OMIM:615314
HP:0001595	Abnormal hair morphology	80036	TRPM3	OMIM:620224
HP:0001595	Abnormal hair morphology	440138	ALG11	OMIM:613661
HP:0001595	Abnormal hair morphology	79147	FKRP	OMIM:613153
HP:0001595	Abnormal hair morphology	6135	RPL11	ORPHA:124
HP:0001595	Abnormal hair morphology	6138	RPL15	ORPHA:124
HP:0001595	Abnormal hair morphology	6229	RPS24	ORPHA:124
HP:0001595	Abnormal hair morphology	6125	RPL5	ORPHA:124
HP:0001595	Abnormal hair morphology	6204	RPS10	ORPHA:124
HP:0001595	Abnormal hair morphology	6224	RPS20	ORPHA:124
HP:0001595	Abnormal hair morphology	6165	RPL35A	ORPHA:124
HP:0001595	Abnormal hair morphology	6223	RPS19	ORPHA:124
HP:0001595	Abnormal hair morphology	6232	RPS27	ORPHA:124
HP:0001595	Abnormal hair morphology	6231	RPS26	ORPHA:124
HP:0001595	Abnormal hair morphology	11224	RPL35	ORPHA:124
HP:0001595	Abnormal hair morphology	6160	RPL31	ORPHA:124
HP:0001595	Abnormal hair morphology	6218	RPS17	ORPHA:124
HP:0001595	Abnormal hair morphology	6201	RPS7	ORPHA:124
HP:0001595	Abnormal hair morphology	6155	RPL27	ORPHA:124
HP:0001595	Abnormal hair morphology	6154	RPL26	ORPHA:124
HP:0001595	Abnormal hair morphology	6210	RPS15A	ORPHA:124
HP:0001595	Abnormal hair morphology	90121	TSR2	ORPHA:124
HP:0001595	Abnormal hair morphology	6141	RPL18	ORPHA:124
HP:0001595	Abnormal hair morphology	6235	RPS29	ORPHA:124
HP:0001595	Abnormal hair morphology	51816	ADA2	ORPHA:124
HP:0001595	Abnormal hair morphology	9990	SLC12A6	OMIM:218000
HP:0001595	Abnormal hair morphology	2245	FGD1	OMIM:305400
HP:0001595	Abnormal hair morphology	8092	ALX1	ORPHA:306542
HP:0001595	Abnormal hair morphology	257	ALX3	OMIM:136760
HP:0001595	Abnormal hair morphology	257	ALX3	ORPHA:391474
HP:0001595	Abnormal hair morphology	4281	MID1	OMIM:300000
HP:0001595	Abnormal hair morphology	4281	MID1	ORPHA:2745
HP:0001595	Abnormal hair morphology	10220	GDF11	OMIM:619122
HP:0001595	Abnormal hair morphology	22907	DHX30	OMIM:617804
HP:0001595	Abnormal hair morphology	6304	SATB1	OMIM:619229
HP:0001595	Abnormal hair morphology	4036	LRP2	ORPHA:2143
HP:0001595	Abnormal hair morphology	85378	TUBGCP6	ORPHA:2518
HP:0001595	Abnormal hair morphology	27229	TUBGCP4	ORPHA:2518
HP:0001595	Abnormal hair morphology	10733	PLK4	ORPHA:2518
HP:0001595	Abnormal hair morphology	22947	DUX4L1	ORPHA:269
HP:0001595	Abnormal hair morphology	1789	DNMT3B	ORPHA:269
HP:0001595	Abnormal hair morphology	2483	FRG1	ORPHA:269
HP:0001595	Abnormal hair morphology	23347	SMCHD1	ORPHA:269
HP:0001595	Abnormal hair morphology	100288687	DUX4	ORPHA:269
HP:0001595	Abnormal hair morphology	54539	NDUFB11	ORPHA:2556
HP:0001595	Abnormal hair morphology	3052	HCCS	ORPHA:2556
HP:0001595	Abnormal hair morphology	64093	SMOC1	OMIM:206920
HP:0001595	Abnormal hair morphology	8036	SHOC2	OMIM:607721
HP:0001595	Abnormal hair morphology	8367	H4C5	OMIM:619950
HP:0001595	Abnormal hair morphology	4897	NRCAM	OMIM:619833
HP:0001595	Abnormal hair morphology	10586	MAB21L2	OMIM:615877
HP:0001595	Abnormal hair morphology	10274	STAG1	ORPHA:502434
HP:0001595	Abnormal hair morphology	85358	SHANK3	OMIM:606232
HP:0001595	Abnormal hair morphology	85358	SHANK3	ORPHA:48652
HP:0001595	Abnormal hair morphology	84570	COL25A1	ORPHA:91411
HP:0001595	Abnormal hair morphology	79776	ZFHX4	ORPHA:91411
HP:0001595	Abnormal hair morphology	10847	SRCAP	OMIM:136140
HP:0001595	Abnormal hair morphology	1436	CSF1R	OMIM:618476
HP:0001595	Abnormal hair morphology	6536	SLC6A9	OMIM:617301
HP:0001595	Abnormal hair morphology	51506	UFC1	OMIM:618076
HP:0001595	Abnormal hair morphology	4081	MAB21L1	OMIM:618479
HP:0001595	Abnormal hair morphology	2250	FGF5	OMIM:190330
HP:0001595	Abnormal hair morphology	10908	PNPLA6	OMIM:275400
HP:0001595	Abnormal hair morphology	3764	KCNJ8	ORPHA:1517
HP:0001595	Abnormal hair morphology	10060	ABCC9	ORPHA:1517
HP:0001595	Abnormal hair morphology	10060	ABCC9	OMIM:239850
HP:0001595	Abnormal hair morphology	1956	EGFR	OMIM:616069
HP:0001595	Abnormal hair morphology	4998	ORC1	OMIM:224690
HP:0001595	Abnormal hair morphology	8260	NAA10	OMIM:300855
HP:0001595	Abnormal hair morphology	80204	FBXO11	OMIM:618089
HP:0001595	Abnormal hair morphology	8120	AP3B2	OMIM:617276
HP:0001595	Abnormal hair morphology	55603	TENT5A	OMIM:617952
HP:0001595	Abnormal hair morphology	4853	NOTCH2	OMIM:102500
HP:0001595	Abnormal hair morphology	64359	NXN	OMIM:618529
HP:0001595	Abnormal hair morphology	64359	NXN	ORPHA:1507
HP:0001595	Abnormal hair morphology	4920	ROR2	ORPHA:1507
HP:0001595	Abnormal hair morphology	4920	ROR2	OMIM:268310
HP:0001595	Abnormal hair morphology	7841	MOGS	OMIM:606056
HP:0001595	Abnormal hair morphology	7841	MOGS	ORPHA:79330
HP:0001595	Abnormal hair morphology	2200	FBN1	ORPHA:969
HP:0001595	Abnormal hair morphology	2200	FBN1	OMIM:102370
HP:0001595	Abnormal hair morphology	9377	COX5A	OMIM:619064
HP:0001595	Abnormal hair morphology	6872	TAF1	ORPHA:480907
HP:0001595	Abnormal hair morphology	23258	DENND5A	OMIM:617281
HP:0001595	Abnormal hair morphology	1105	CHD1	OMIM:617682
HP:0001595	Abnormal hair morphology	22872	SEC31A	OMIM:618651
HP:0001595	Abnormal hair morphology	23314	SATB2	OMIM:612313
HP:0001595	Abnormal hair morphology	649	BMP1	OMIM:614856
HP:0001595	Abnormal hair morphology	2783	GNB2	OMIM:619503
HP:0001595	Abnormal hair morphology	4247	MGAT2	OMIM:212066
HP:0001595	Abnormal hair morphology	4247	MGAT2	ORPHA:79329
HP:0001595	Abnormal hair morphology	57003	CCDC47	OMIM:618268
HP:0001595	Abnormal hair morphology	157680	VPS13B	ORPHA:193
HP:0001595	Abnormal hair morphology	9150	CTDP1	ORPHA:48431
HP:0001595	Abnormal hair morphology	149371	EXOC8	OMIM:619076
HP:0001595	Abnormal hair morphology	1857	DVL3	ORPHA:3107
HP:0001595	Abnormal hair morphology	1857	DVL3	OMIM:616894
HP:0001595	Abnormal hair morphology	7474	WNT5A	ORPHA:3107
HP:0001595	Abnormal hair morphology	7474	WNT5A	OMIM:180700
HP:0001595	Abnormal hair morphology	1855	DVL1	ORPHA:3107
HP:0001595	Abnormal hair morphology	1855	DVL1	OMIM:180700
HP:0001595	Abnormal hair morphology	2535	FZD2	ORPHA:3107
HP:0001595	Abnormal hair morphology	92609	TIMM50	OMIM:617698
HP:0001595	Abnormal hair morphology	85440	DOCK7	ORPHA:411986
HP:0001595	Abnormal hair morphology	85440	DOCK7	OMIM:615859
HP:0001595	Abnormal hair morphology	283209	PGM2L1	OMIM:620191
HP:0001595	Abnormal hair morphology	4094	MAF	ORPHA:1272
HP:0001595	Abnormal hair morphology	1806	DPYD	ORPHA:1675
HP:0001595	Abnormal hair morphology	23261	CAMTA1	OMIM:614756
HP:0001595	Abnormal hair morphology	55343	SLC35C1	ORPHA:99843
HP:0001595	Abnormal hair morphology	5495	PPM1B	ORPHA:163693
HP:0001595	Abnormal hair morphology	6519	SLC3A1	ORPHA:163693
HP:0001595	Abnormal hair morphology	9581	PREPL	ORPHA:163693
HP:0001595	Abnormal hair morphology	79823	CAMKMT	ORPHA:163693
HP:0001595	Abnormal hair morphology	10463	SLC30A9	OMIM:617595
HP:0001595	Abnormal hair morphology	738	VPS51	OMIM:618606
HP:0001595	Abnormal hair morphology	4848	CNOT2	OMIM:618608
HP:0001595	Abnormal hair morphology	84842	HPDL	OMIM:619026
HP:0001595	Abnormal hair morphology	5881	RAC3	OMIM:618577
HP:0001595	Abnormal hair morphology	672	BRCA1	OMIM:617883
HP:0001595	Abnormal hair morphology	9181	ARHGEF2	OMIM:617523
HP:0001595	Abnormal hair morphology	1642	DDB1	OMIM:619426
HP:0001595	Abnormal hair morphology	7407	VARS1	OMIM:617802
HP:0001595	Abnormal hair morphology	91179	SCARF2	OMIM:600920
HP:0001595	Abnormal hair morphology	54345	SOX18	OMIM:137940
HP:0001595	Abnormal hair morphology	54345	SOX18	OMIM:607823
HP:0001595	Abnormal hair morphology	54345	SOX18	ORPHA:69735
HP:0001595	Abnormal hair morphology	4035	LRP1	OMIM:604093
HP:0001595	Abnormal hair morphology	3891	KRT85	OMIM:602032
HP:0001595	Abnormal hair morphology	2255	FGF10	OMIM:620193
HP:0001595	Abnormal hair morphology	9533	POLR1C	ORPHA:861
HP:0001595	Abnormal hair morphology	51082	POLR1D	ORPHA:861
HP:0001595	Abnormal hair morphology	4953	ODC1	ORPHA:544488
HP:0001595	Abnormal hair morphology	9131	AIFM1	OMIM:300232
HP:0001595	Abnormal hair morphology	26235	FBXL4	OMIM:615471
HP:0001595	Abnormal hair morphology	9820	CUL7	ORPHA:2616
HP:0001595	Abnormal hair morphology	9820	CUL7	OMIM:273750
HP:0001595	Abnormal hair morphology	23363	OBSL1	ORPHA:2616
HP:0001595	Abnormal hair morphology	83987	CCDC8	ORPHA:2616
HP:0001595	Abnormal hair morphology	10479	SLC9A6	OMIM:300243
HP:0001595	Abnormal hair morphology	10479	SLC9A6	ORPHA:85278
HP:0001595	Abnormal hair morphology	1278	COL1A2	ORPHA:230851
HP:0001595	Abnormal hair morphology	57082	KNL1	OMIM:604321
HP:0001595	Abnormal hair morphology	55699	IARS2	ORPHA:436174
HP:0001595	Abnormal hair morphology	55699	IARS2	OMIM:616007
HP:0001595	Abnormal hair morphology	10015	PDCD6IP	OMIM:620047
HP:0001595	Abnormal hair morphology	1182	CLCN3	OMIM:619512
HP:0001595	Abnormal hair morphology	388662	SLC6A17	ORPHA:457212
HP:0001595	Abnormal hair morphology	55280	CWF19L1	OMIM:616127
HP:0001595	Abnormal hair morphology	285362	SUMF1	ORPHA:585
HP:0001595	Abnormal hair morphology	5700	PSMC1	OMIM:620071
HP:0001595	Abnormal hair morphology	54828	BCAS3	OMIM:619641
HP:0001595	Abnormal hair morphology	81887	LAS1L	ORPHA:3459
HP:0001595	Abnormal hair morphology	81887	LAS1L	OMIM:309585
HP:0001595	Abnormal hair morphology	4208	MEF2C	ORPHA:228384
HP:0001595	Abnormal hair morphology	8242	KDM5C	OMIM:300534
HP:0001595	Abnormal hair morphology	23162	MAPK8IP3	OMIM:618443
HP:0001595	Abnormal hair morphology	7355	SLC35A2	OMIM:300896
HP:0001595	Abnormal hair morphology	79718	TBL1XR1	OMIM:616944
HP:0001595	Abnormal hair morphology	11160	ERLIN2	ORPHA:280384
HP:0001595	Abnormal hair morphology	11160	ERLIN2	ORPHA:209951
HP:0001595	Abnormal hair morphology	5979	RET	OMIM:162300
HP:0001595	Abnormal hair morphology	10588	MTHFS	OMIM:618367
HP:0001595	Abnormal hair morphology	8091	HMGA2	ORPHA:94063
HP:0001595	Abnormal hair morphology	23592	LEMD3	ORPHA:94063
HP:0001595	Abnormal hair morphology	5718	PSMD12	ORPHA:529962
HP:0001595	Abnormal hair morphology	2517	FUCA1	OMIM:230000
HP:0001595	Abnormal hair morphology	50937	CDON	OMIM:614226
HP:0001595	Abnormal hair morphology	2131	EXT1	ORPHA:502
HP:0001595	Abnormal hair morphology	23067	SETD1B	OMIM:619000
HP:0001595	Abnormal hair morphology	114928	GPRASP2	OMIM:301018
HP:0001595	Abnormal hair morphology	2273	FHL1	OMIM:300280
HP:0001595	Abnormal hair morphology	55023	PHIP	OMIM:617991
HP:0001595	Abnormal hair morphology	51594	NBAS	OMIM:614800
HP:0001595	Abnormal hair morphology	26229	B3GAT3	OMIM:245600
HP:0001595	Abnormal hair morphology	55331	ACER3	OMIM:617762
HP:0001595	Abnormal hair morphology	10844	TUBGCP2	OMIM:618737
HP:0001595	Abnormal hair morphology	58508	KMT2C	OMIM:617768
HP:0001595	Abnormal hair morphology	10466	COG5	ORPHA:263487
HP:0001595	Abnormal hair morphology	5286	PIK3C2A	ORPHA:557003
HP:0001595	Abnormal hair morphology	23241	PACS2	OMIM:618067
HP:0001595	Abnormal hair morphology	7109	TRAPPC10	OMIM:620027
HP:0001595	Abnormal hair morphology	10300	KATNB1	OMIM:616212
HP:0001595	Abnormal hair morphology	7552	ZNF711	OMIM:300803
HP:0001595	Abnormal hair morphology	2314	FLII	ORPHA:819
HP:0001595	Abnormal hair morphology	23096	IQSEC2	ORPHA:819
HP:0001595	Abnormal hair morphology	10743	RAI1	ORPHA:819
HP:0001595	Abnormal hair morphology	10743	RAI1	OMIM:182290
HP:0001595	Abnormal hair morphology	26153	KIF26A	OMIM:620156
HP:0001595	Abnormal hair morphology	23036	ZNF292	OMIM:619188
HP:0001595	Abnormal hair morphology	3340	NDST1	OMIM:616116
HP:0001595	Abnormal hair morphology	84300	UQCC2	OMIM:615824
HP:0001595	Abnormal hair morphology	3192	HNRNPU	ORPHA:238769
HP:0001595	Abnormal hair morphology	26038	CHD5	OMIM:619873
HP:0001595	Abnormal hair morphology	8558	CDK10	OMIM:617694
HP:0001595	Abnormal hair morphology	5727	PTCH1	OMIM:610828
HP:0001595	Abnormal hair morphology	56098	PCDHGC4	OMIM:619880
HP:0001595	Abnormal hair morphology	7358	UGDH	OMIM:618792
HP:0001595	Abnormal hair morphology	2556	GABRA3	OMIM:301091
HP:0001595	Abnormal hair morphology	7030	TFE3	OMIM:301066
HP:0001595	Abnormal hair morphology	23219	FBXO28	OMIM:619777
HP:0001595	Abnormal hair morphology	6509	SLC1A4	ORPHA:447997
HP:0001595	Abnormal hair morphology	7546	ZIC2	OMIM:609637
HP:0001595	Abnormal hair morphology	6888	TALDO1	OMIM:606003
HP:0001595	Abnormal hair morphology	51621	KLF13	OMIM:612001
HP:0001595	Abnormal hair morphology	1139	CHRNA7	OMIM:612001
HP:0001595	Abnormal hair morphology	55628	ZNF407	OMIM:619557
HP:0001595	Abnormal hair morphology	9969	MED13	OMIM:618009
HP:0001595	Abnormal hair morphology	2248	FGF3	ORPHA:90024
HP:0001595	Abnormal hair morphology	6792	CDKL5	ORPHA:505652
HP:0001595	Abnormal hair morphology	80185	TTI2	OMIM:615541
HP:0001595	Abnormal hair morphology	80185	TTI2	ORPHA:391307
HP:0001595	Abnormal hair morphology	10771	ZMYND11	OMIM:616083
HP:0001595	Abnormal hair morphology	5702	PSMC3	OMIM:619354
HP:0001595	Abnormal hair morphology	3778	KCNMA1	OMIM:618729
HP:0001595	Abnormal hair morphology	64802	NMNAT1	OMIM:619260
HP:0001595	Abnormal hair morphology	11141	IL1RAPL1	OMIM:300143
HP:0001595	Abnormal hair morphology	22827	PUF60	ORPHA:508498
HP:0001595	Abnormal hair morphology	91949	COG7	OMIM:608779
HP:0001595	Abnormal hair morphology	4558	MT-TF	ORPHA:550
HP:0001595	Abnormal hair morphology	4572	MT-TQ	ORPHA:550
HP:0001595	Abnormal hair morphology	4512	MT-CO1	ORPHA:550
HP:0001595	Abnormal hair morphology	4513	MT-CO2	ORPHA:550
HP:0001595	Abnormal hair morphology	4514	MT-CO3	ORPHA:550
HP:0001595	Abnormal hair morphology	4578	MT-TW	ORPHA:550
HP:0001595	Abnormal hair morphology	4540	MT-ND5	ORPHA:550
HP:0001595	Abnormal hair morphology	4541	MT-ND6	ORPHA:550
HP:0001595	Abnormal hair morphology	4535	MT-ND1	ORPHA:550
HP:0001595	Abnormal hair morphology	4538	MT-ND4	ORPHA:550
HP:0001595	Abnormal hair morphology	4567	MT-TL1	ORPHA:550
HP:0001595	Abnormal hair morphology	4574	MT-TS1	ORPHA:550
HP:0001595	Abnormal hair morphology	4575	MT-TS2	ORPHA:550
HP:0001595	Abnormal hair morphology	4564	MT-TH	ORPHA:550
HP:0001595	Abnormal hair morphology	128869	PIGU	OMIM:618590
HP:0001595	Abnormal hair morphology	4054	LTBP3	OMIM:601216
HP:0001595	Abnormal hair morphology	526	ATP6V1B2	OMIM:616455
HP:0001595	Abnormal hair morphology	79644	SRD5A3	OMIM:612379
HP:0001595	Abnormal hair morphology	79644	SRD5A3	ORPHA:324737
HP:0001595	Abnormal hair morphology	4784	NFIX	OMIM:602535
HP:0001595	Abnormal hair morphology	65082	VPS33A	ORPHA:505248
HP:0001595	Abnormal hair morphology	9630	GNA14	ORPHA:1063
HP:0001595	Abnormal hair morphology	55967	NDUFA12	OMIM:618244
HP:0001595	Abnormal hair morphology	55967	NDUFA12	ORPHA:255241
HP:0001595	Abnormal hair morphology	57492	ARID1B	OMIM:135900
HP:0001595	Abnormal hair morphology	57492	ARID1B	ORPHA:1465
HP:0001595	Abnormal hair morphology	22930	RAB3GAP1	OMIM:600118
HP:0001595	Abnormal hair morphology	4125	MAN2B1	OMIM:248500
HP:0001595	Abnormal hair morphology	6601	SMARCC2	OMIM:618362
HP:0001595	Abnormal hair morphology	6601	SMARCC2	ORPHA:1465
HP:0001595	Abnormal hair morphology	3899	AFF3	OMIM:619297
HP:0001595	Abnormal hair morphology	3643	INSR	OMIM:246200
HP:0001595	Abnormal hair morphology	3643	INSR	OMIM:262190
HP:0001595	Abnormal hair morphology	3643	INSR	ORPHA:508
HP:0001595	Abnormal hair morphology	3643	INSR	ORPHA:769
HP:0001595	Abnormal hair morphology	5119	CHMP1A	OMIM:614961
HP:0001595	Abnormal hair morphology	6597	SMARCA4	ORPHA:1465
HP:0001595	Abnormal hair morphology	6597	SMARCA4	OMIM:614609
HP:0001595	Abnormal hair morphology	6598	SMARCB1	ORPHA:1465
HP:0001595	Abnormal hair morphology	6598	SMARCB1	OMIM:614608
HP:0001595	Abnormal hair morphology	6659	SOX4	ORPHA:1465
HP:0001595	Abnormal hair morphology	8289	ARID1A	ORPHA:1465
HP:0001595	Abnormal hair morphology	5977	DPF2	ORPHA:1465
HP:0001595	Abnormal hair morphology	6602	SMARCD1	ORPHA:1465
HP:0001595	Abnormal hair morphology	196528	ARID2	ORPHA:1465
HP:0001595	Abnormal hair morphology	6605	SMARCE1	ORPHA:1465
HP:0001595	Abnormal hair morphology	6664	SOX11	ORPHA:1465
HP:0001595	Abnormal hair morphology	6664	SOX11	OMIM:615866
HP:0001595	Abnormal hair morphology	3858	KRT10	OMIM:609165
HP:0001595	Abnormal hair morphology	84133	ZNRF3	ORPHA:1501
HP:0001595	Abnormal hair morphology	7157	TP53	ORPHA:1501
HP:0001595	Abnormal hair morphology	5573	PRKAR1A	ORPHA:1501
HP:0001595	Abnormal hair morphology	1499	CTNNB1	ORPHA:1501
HP:0001595	Abnormal hair morphology	1029	CDKN2A	ORPHA:1501
HP:0001595	Abnormal hair morphology	7015	TERT	ORPHA:1501
HP:0001595	Abnormal hair morphology	171023	ASXL1	ORPHA:97297
HP:0001595	Abnormal hair morphology	171023	ASXL1	OMIM:605039
HP:0001595	Abnormal hair morphology	283987	HID1	OMIM:619983
HP:0001595	Abnormal hair morphology	633	BGN	OMIM:300989
HP:0001595	Abnormal hair morphology	23028	KDM1A	ORPHA:477993
HP:0001595	Abnormal hair morphology	57231	SNX14	OMIM:616354
HP:0001595	Abnormal hair morphology	55148	UBR7	OMIM:619189
HP:0001595	Abnormal hair morphology	51729	WBP11	OMIM:619227
HP:0001595	Abnormal hair morphology	3782	KCNN3	OMIM:618658
HP:0001595	Abnormal hair morphology	5498	PPOX	ORPHA:79473
HP:0001595	Abnormal hair morphology	26040	SETBP1	OMIM:269150
HP:0001595	Abnormal hair morphology	1075	CTSC	ORPHA:678
HP:0001595	Abnormal hair morphology	50801	KCNK4	OMIM:618381
HP:0001595	Abnormal hair morphology	1798	DPAGT1	ORPHA:86309
HP:0001595	Abnormal hair morphology	10664	CTCF	ORPHA:363611
HP:0001595	Abnormal hair morphology	9851	KIAA0753	OMIM:619479
HP:0001595	Abnormal hair morphology	23512	SUZ12	OMIM:618786
HP:0001595	Abnormal hair morphology	23461	ABCA5	OMIM:135400
HP:0001595	Abnormal hair morphology	3572	IL6ST	OMIM:619750
HP:0001595	Abnormal hair morphology	22931	RAB18	OMIM:614222
HP:0001595	Abnormal hair morphology	29957	SLC25A24	OMIM:612289
HP:0001595	Abnormal hair morphology	8239	USP9X	ORPHA:480880
HP:0001595	Abnormal hair morphology	8239	USP9X	OMIM:300968
HP:0001595	Abnormal hair morphology	5593	PRKG2	OMIM:619636
HP:0001595	Abnormal hair morphology	150468	CKAP2L	OMIM:272440
HP:0001595	Abnormal hair morphology	5293	PIK3CD	ORPHA:221139
HP:0001595	Abnormal hair morphology	90417	KNSTRN	ORPHA:221139
HP:0001595	Abnormal hair morphology	25915	NDUFAF3	ORPHA:70474
HP:0001595	Abnormal hair morphology	4714	NDUFB8	ORPHA:70474
HP:0001595	Abnormal hair morphology	4720	NDUFS2	ORPHA:70474
HP:0001595	Abnormal hair morphology	4720	NDUFS2	ORPHA:255241
HP:0001595	Abnormal hair morphology	9997	SCO2	ORPHA:70474
HP:0001595	Abnormal hair morphology	6834	SURF1	ORPHA:70474
HP:0001595	Abnormal hair morphology	6834	SURF1	ORPHA:255241
HP:0001595	Abnormal hair morphology	79796	ALG9	ORPHA:79328
HP:0001595	Abnormal hair morphology	8314	BAP1	OMIM:619762
HP:0001595	Abnormal hair morphology	374879	ZNF699	OMIM:619488
HP:0001595	Abnormal hair morphology	5594	MAPK1	OMIM:619087
HP:0001595	Abnormal hair morphology	10293	TRAIP	OMIM:616777
HP:0001595	Abnormal hair morphology	641	BLM	OMIM:210900
HP:0001595	Abnormal hair morphology	9772	TMEM94	OMIM:618316
HP:0001595	Abnormal hair morphology	118924	FRA10AC1	OMIM:620113
HP:0001595	Abnormal hair morphology	55252	ASXL2	OMIM:617190
HP:0001595	Abnormal hair morphology	6389	SDHA	ORPHA:255241
HP:0001595	Abnormal hair morphology	80704	SLC19A3	ORPHA:255241
HP:0001595	Abnormal hair morphology	91942	NDUFAF2	ORPHA:255241
HP:0001595	Abnormal hair morphology	4723	NDUFV1	ORPHA:255241
HP:0001595	Abnormal hair morphology	55572	FOXRED1	ORPHA:255241
HP:0001595	Abnormal hair morphology	4729	NDUFV2	ORPHA:255241
HP:0001595	Abnormal hair morphology	51204	TACO1	ORPHA:255241
HP:0001595	Abnormal hair morphology	4724	NDUFS4	ORPHA:255241
HP:0001595	Abnormal hair morphology	4728	NDUFS8	ORPHA:255241
HP:0001595	Abnormal hair morphology	137682	NDUFAF6	ORPHA:255241
HP:0001595	Abnormal hair morphology	4722	NDUFS3	ORPHA:255241
HP:0001595	Abnormal hair morphology	79133	NDUFAF5	ORPHA:255241
HP:0001595	Abnormal hair morphology	5160	PDHA1	ORPHA:255241
HP:0001595	Abnormal hair morphology	100131801	PET100	ORPHA:255241
HP:0001595	Abnormal hair morphology	1355	COX15	ORPHA:255241
HP:0001595	Abnormal hair morphology	1892	ECHS1	ORPHA:255241
HP:0001595	Abnormal hair morphology	123263	MTFMT	ORPHA:255241
HP:0001595	Abnormal hair morphology	51079	NDUFA13	ORPHA:255241
HP:0001595	Abnormal hair morphology	374291	NDUFS7	ORPHA:255241
HP:0001595	Abnormal hair morphology	4705	NDUFA10	ORPHA:255241
HP:0001595	Abnormal hair morphology	51601	LIPT1	ORPHA:255241
HP:0001595	Abnormal hair morphology	4719	NDUFS1	ORPHA:255241
HP:0001595	Abnormal hair morphology	4695	NDUFA2	ORPHA:255241
HP:0001595	Abnormal hair morphology	4697	NDUFA4	ORPHA:255241
HP:0001595	Abnormal hair morphology	4704	NDUFA9	ORPHA:255241
HP:0001595	Abnormal hair morphology	7390	UROS	OMIM:263700
HP:0001595	Abnormal hair morphology	54941	RNF125	OMIM:616260
HP:0001595	Abnormal hair morphology	3423	IDS	OMIM:309900
HP:0001595	Abnormal hair morphology	2720	GLB1	OMIM:230500
HP:0001595	Abnormal hair morphology	138050	HGSNAT	OMIM:252930
HP:0001595	Abnormal hair morphology	5468	PPARG	ORPHA:528
HP:0001595	Abnormal hair morphology	10555	AGPAT2	ORPHA:528
HP:0001595	Abnormal hair morphology	284119	CAVIN1	ORPHA:528
HP:0001595	Abnormal hair morphology	26580	BSCL2	ORPHA:528
HP:0001595	Abnormal hair morphology	2353	FOS	ORPHA:528
HP:0001595	Abnormal hair morphology	857	CAV1	ORPHA:528
HP:0001595	Abnormal hair morphology	11011	TLK2	OMIM:618050
HP:0001595	Abnormal hair morphology	116150	NUS1	OMIM:617082
HP:0001595	Abnormal hair morphology	127534	GJB4	OMIM:617524
HP:0001595	Abnormal hair morphology	55315	SLC29A3	ORPHA:168569
HP:0001595	Abnormal hair morphology	2719	GPC3	OMIM:312870
HP:0001595	Abnormal hair morphology	2239	GPC4	OMIM:312870
HP:0001595	Abnormal hair morphology	137492	VPS37A	OMIM:614898
HP:0001595	Abnormal hair morphology	5696	PSMB8	OMIM:256040
HP:0001595	Abnormal hair morphology	6448	SGSH	OMIM:252900
HP:0001595	Abnormal hair morphology	23394	ADNP	ORPHA:404448
HP:0001595	Abnormal hair morphology	9210	BMP15	OMIM:300510
HP:0001595	Abnormal hair morphology	124997	WDR81	OMIM:610185
HP:0001595	Abnormal hair morphology	6885	MAP3K7	OMIM:617137
HP:0001595	Abnormal hair morphology	6650	CAPN15	OMIM:619318
HP:0001595	Abnormal hair morphology	2908	NR3C1	ORPHA:786
HP:0001595	Abnormal hair morphology	2908	NR3C1	ORPHA:96253
HP:0001595	Abnormal hair morphology	2908	NR3C1	OMIM:615962
HP:0001595	Abnormal hair morphology	411	ARSB	OMIM:253200
HP:0001595	Abnormal hair morphology	5447	POR	ORPHA:95699
HP:0001595	Abnormal hair morphology	55593	OTUD5	OMIM:301056
HP:0001595	Abnormal hair morphology	3097	HIVEP2	OMIM:616977
HP:0001595	Abnormal hair morphology	3284	HSD3B2	ORPHA:90791
HP:0001595	Abnormal hair morphology	4131	MAP1B	OMIM:618918
HP:0001595	Abnormal hair morphology	50940	PDE11A	ORPHA:1359
HP:0001595	Abnormal hair morphology	50940	PDE11A	ORPHA:189439
HP:0001595	Abnormal hair morphology	1584	CYP11B1	ORPHA:90795
HP:0001595	Abnormal hair morphology	84196	USP48	ORPHA:96253
HP:0001595	Abnormal hair morphology	9101	USP8	ORPHA:96253
HP:0001595	Abnormal hair morphology	9101	USP8	OMIM:219090
HP:0001595	Abnormal hair morphology	546	ATRX	ORPHA:96253
HP:0001595	Abnormal hair morphology	2530	FUT8	OMIM:618005
HP:0001595	Abnormal hair morphology	1020	CDK5	OMIM:616342
HP:0001595	Abnormal hair morphology	7965	AIMP2	OMIM:618006
HP:0001595	Abnormal hair morphology	84100	ARL6	OMIM:209900
HP:0001595	Abnormal hair morphology	79140	CCDC28B	OMIM:209900
HP:0001595	Abnormal hair morphology	582	BBS1	OMIM:209900
HP:0001595	Abnormal hair morphology	1201	CLN3	ORPHA:228346
HP:0001595	Abnormal hair morphology	114034	TOE1	OMIM:614969
HP:0001595	Abnormal hair morphology	4323	MMP14	OMIM:277950
HP:0001595	Abnormal hair morphology	4323	MMP14	ORPHA:371428
HP:0001595	Abnormal hair morphology	4313	MMP2	ORPHA:371428
HP:0001595	Abnormal hair morphology	4313	MMP2	OMIM:259600
HP:0001595	Abnormal hair morphology	9509	ADAMTS2	OMIM:225410
HP:0001595	Abnormal hair morphology	128637	TBC1D20	OMIM:615663
HP:0001595	Abnormal hair morphology	4214	MAP3K1	OMIM:613762
HP:0001595	Abnormal hair morphology	3425	IDUA	OMIM:607014
HP:0001595	Abnormal hair morphology	3425	IDUA	OMIM:607015
HP:0001595	Abnormal hair morphology	9563	H6PD	OMIM:604931
HP:0001595	Abnormal hair morphology	7840	ALMS1	ORPHA:64
HP:0001595	Abnormal hair morphology	1267	CNP	OMIM:619071
HP:0001595	Abnormal hair morphology	6608	SMO	OMIM:601707
HP:0001595	Abnormal hair morphology	10526	IPO8	OMIM:619472
HP:0001595	Abnormal hair morphology	84504	NKX6-2	ORPHA:527497
HP:0001595	Abnormal hair morphology	2737	GLI3	OMIM:175700
HP:0001595	Abnormal hair morphology	8622	PDE8B	ORPHA:189439
HP:0001595	Abnormal hair morphology	9060	PAPSS2	OMIM:612847
HP:0001595	Abnormal hair morphology	10236	HNRNPR	OMIM:620073
HP:0001595	Abnormal hair morphology	57477	SHROOM4	ORPHA:85288
HP:0001595	Abnormal hair morphology	79798	ARMC5	ORPHA:189427
HP:0001595	Abnormal hair morphology	2778	GNAS	ORPHA:189427
HP:0001595	Abnormal hair morphology	9373	PLAA	ORPHA:521426
HP:0001595	Abnormal hair morphology	9373	PLAA	OMIM:617527
HP:0001595	Abnormal hair morphology	10020	GNE	OMIM:269921
HP:0001595	Abnormal hair morphology	6603	SMARCD2	OMIM:617475
HP:0001595	Abnormal hair morphology	1315	COPB1	OMIM:619255
HP:0001595	Abnormal hair morphology	2990	GUSB	OMIM:253220
HP:0001595	Abnormal hair morphology	54187	NANS	OMIM:610442
HP:0001595	Abnormal hair morphology	51322	WAC	OMIM:616708
HP:0001595	Abnormal hair morphology	51322	WAC	ORPHA:466950
HP:0001595	Abnormal hair morphology	2492	FSHR	ORPHA:64739
HP:0001595	Abnormal hair morphology	147372	CCBE1	OMIM:235510
HP:0001595	Abnormal hair morphology	55553	SOX6	OMIM:618971
HP:0001595	Abnormal hair morphology	284361	EMC10	OMIM:619264
HP:0001595	Abnormal hair morphology	84823	LMNB2	OMIM:608709
HP:0001595	Abnormal hair morphology	4669	NAGLU	OMIM:252920
HP:0001595	Abnormal hair morphology	63915	BLOC1S5	OMIM:619172
HP:0001595	Abnormal hair morphology	8943	AP3D1	OMIM:617050
HP:0001595	Abnormal hair morphology	83938	LRMDA	OMIM:615179
HP:0001595	Abnormal hair morphology	11152	WDR45	OMIM:615179
HP:0001595	Abnormal hair morphology	8546	AP3B1	OMIM:608233
HP:0001595	Abnormal hair morphology	89781	HPS4	OMIM:614073
HP:0001595	Abnormal hair morphology	11234	HPS5	OMIM:614074
HP:0001595	Abnormal hair morphology	778	CACNA1F	OMIM:300600
HP:0001595	Abnormal hair morphology	79803	HPS6	OMIM:614075
HP:0001595	Abnormal hair morphology	84062	DTNBP1	OMIM:614076
HP:0001595	Abnormal hair morphology	5333	PLCD1	OMIM:151600
HP:0001595	Abnormal hair morphology	91754	NEK9	ORPHA:64754
HP:0001595	Abnormal hair morphology	23630	KCNE5	ORPHA:86818
HP:0001595	Abnormal hair morphology	2182	ACSL4	ORPHA:86818
HP:0001595	Abnormal hair morphology	9949	AMMECR1	ORPHA:86818
HP:0001595	Abnormal hair morphology	3709	ITPR2	OMIM:106190
HP:0001595	Abnormal hair morphology	6716	SRD5A2	OMIM:264600
HP:0001595	Abnormal hair morphology	5167	ENPP1	OMIM:615522
HP:0001595	Abnormal hair morphology	3832	KIF11	ORPHA:2526
HP:0001595	Abnormal hair morphology	1019	CDK4	ORPHA:618
HP:0001595	Abnormal hair morphology	4255	MGMT	ORPHA:618
HP:0001595	Abnormal hair morphology	54386	TERF2IP	ORPHA:618
HP:0001595	Abnormal hair morphology	25913	POT1	ORPHA:618
HP:0001595	Abnormal hair morphology	1030	CDKN2B	ORPHA:618
HP:0001595	Abnormal hair morphology	488	ATP2A2	ORPHA:218
HP:0001595	Abnormal hair morphology	4942	OAT	ORPHA:414
HP:0001595	Abnormal hair morphology	4014	LORICRIN	OMIM:604117
HP:0001595	Abnormal hair morphology	4854	NOTCH3	ORPHA:2591
HP:0001595	Abnormal hair morphology	64377	CHST8	OMIM:616265
HP:0001595	Abnormal hair morphology	6774	STAT3	ORPHA:2314
HP:0001595	Abnormal hair morphology	3973	LHCGR	ORPHA:3000
HP:0001595	Abnormal hair morphology	92344	GORAB	OMIM:231070
HP:0001595	Abnormal hair morphology	1476	CSTB	ORPHA:248
HP:0001595	Abnormal hair morphology	224	ALDH3A2	OMIM:270200
HP:0001595	Abnormal hair morphology	5083	PAX9	OMIM:604625
HP:0001595	Abnormal hair morphology	3848	KRT1	ORPHA:50942
HP:0001595	Abnormal hair morphology	3848	KRT1	OMIM:607654
HP:0001595	Abnormal hair morphology	118429	ANTXR2	ORPHA:2028
HP:0001595	Abnormal hair morphology	5062	PAK2	ORPHA:1571
HP:0001595	Abnormal hair morphology	3106	HLA-B	ORPHA:397
HP:0001595	Abnormal hair morphology	3123	HLA-DRB1	ORPHA:397
HP:0001595	Abnormal hair morphology	3123	HLA-DRB1	ORPHA:797
HP:0001595	Abnormal hair morphology	8974	P4HA2	ORPHA:397
HP:0001595	Abnormal hair morphology	51099	ABHD5	OMIM:275630
HP:0001595	Abnormal hair morphology	51099	ABHD5	ORPHA:98907
HP:0001595	Abnormal hair morphology	4790	NFKB1	OMIM:616576
HP:0001595	Abnormal hair morphology	3141	HLCS	OMIM:253270
HP:0001595	Abnormal hair morphology	3141	HLCS	ORPHA:79242
HP:0001595	Abnormal hair morphology	90	ACVR1	OMIM:135100
HP:0001595	Abnormal hair morphology	90	ACVR1	ORPHA:337
HP:0001595	Abnormal hair morphology	7780	SLC30A2	OMIM:608118
HP:0001595	Abnormal hair morphology	50814	NSDHL	OMIM:308050
HP:0001595	Abnormal hair morphology	686	BTD	OMIM:253260
HP:0001595	Abnormal hair morphology	686	BTD	ORPHA:79241
HP:0001595	Abnormal hair morphology	3117	HLA-DQA1	OMIM:212750
HP:0001595	Abnormal hair morphology	3119	HLA-DQB1	OMIM:212750
HP:0001595	Abnormal hair morphology	64087	MCCC2	OMIM:210210
HP:0001595	Abnormal hair morphology	5191	PEX7	OMIM:215100
HP:0001595	Abnormal hair morphology	215	ABCD1	OMIM:300100
HP:0001595	Abnormal hair morphology	55131	RBM28	ORPHA:157954
HP:0001595	Abnormal hair morphology	55131	RBM28	OMIM:612079
HP:0001595	Abnormal hair morphology	23312	DMXL2	ORPHA:453533
HP:0001595	Abnormal hair morphology	1909	EDNRA	OMIM:616367
HP:0001595	Abnormal hair morphology	51284	TLR7	OMIM:301080
HP:0001595	Abnormal hair morphology	4256	MGP	ORPHA:85202
HP:0001595	Abnormal hair morphology	2512	FTL	OMIM:615604
HP:0001595	Abnormal hair morphology	695	BTK	ORPHA:47
HP:0001595	Abnormal hair morphology	50943	FOXP3	ORPHA:37042
HP:0001595	Abnormal hair morphology	50943	FOXP3	OMIM:304790
HP:0001595	Abnormal hair morphology	5654	HTRA1	OMIM:600142
HP:0001595	Abnormal hair morphology	1493	CTLA4	ORPHA:2584
HP:0001595	Abnormal hair morphology	1493	CTLA4	ORPHA:3162
HP:0001595	Abnormal hair morphology	940	CD28	ORPHA:2584
HP:0001595	Abnormal hair morphology	940	CD28	ORPHA:3162
HP:0001595	Abnormal hair morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001595	Abnormal hair morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001595	Abnormal hair morphology	7507	XPA	ORPHA:910
HP:0001595	Abnormal hair morphology	7508	XPC	ORPHA:910
HP:0001595	Abnormal hair morphology	1643	DDB2	ORPHA:910
HP:0001595	Abnormal hair morphology	2072	ERCC4	ORPHA:910
HP:0001595	Abnormal hair morphology	2073	ERCC5	ORPHA:910
HP:0001595	Abnormal hair morphology	2767	GNA11	ORPHA:428
HP:0001595	Abnormal hair morphology	846	CASR	ORPHA:428
HP:0001595	Abnormal hair morphology	6775	STAT4	ORPHA:93552
HP:0001595	Abnormal hair morphology	6696	SPP1	ORPHA:93552
HP:0001595	Abnormal hair morphology	3654	IRAK1	ORPHA:93552
HP:0001595	Abnormal hair morphology	55630	SLC39A4	ORPHA:37
HP:0001595	Abnormal hair morphology	1294	COL7A1	OMIM:226600
HP:0001595	Abnormal hair morphology	4312	MMP1	OMIM:226600
HP:0001595	Abnormal hair morphology	8882	ZPR1	OMIM:619321
HP:0001595	Abnormal hair morphology	114798	SLITRK1	OMIM:613229
HP:0001595	Abnormal hair morphology	23328	SASH1	OMIM:618373
HP:0001595	Abnormal hair morphology	3868	KRT16	ORPHA:2309
HP:0001595	Abnormal hair morphology	3853	KRT6A	ORPHA:2309
HP:0001595	Abnormal hair morphology	3854	KRT6B	ORPHA:2309
HP:0001595	Abnormal hair morphology	56244	BTNL2	ORPHA:797
HP:0001595	Abnormal hair morphology	650	BMP2	OMIM:235200
HP:0001595	Abnormal hair morphology	5580	PRKCD	OMIM:615559
HP:0001595	Abnormal hair morphology	84905	ZNF341	OMIM:618282
HP:0001595	Abnormal hair morphology	10273	STUB1	ORPHA:412057
HP:0001595	Abnormal hair morphology	204219	CERS3	ORPHA:79394
HP:0001595	Abnormal hair morphology	285848	PNPLA1	ORPHA:79394
HP:0001595	Abnormal hair morphology	3852	KRT5	ORPHA:79396
HP:0001595	Abnormal hair morphology	3852	KRT5	ORPHA:79397
HP:0001595	Abnormal hair morphology	3861	KRT14	ORPHA:79396
HP:0001595	Abnormal hair morphology	3861	KRT14	ORPHA:79397
HP:0001595	Abnormal hair morphology	64132	XYLT2	OMIM:605822
HP:0001595	Abnormal hair morphology	64132	XYLT2	ORPHA:85194
HP:0001595	Abnormal hair morphology	161742	SPRED1	OMIM:611431
HP:0001595	Abnormal hair morphology	1000	CDH2	OMIM:618929
HP:0001595	Abnormal hair morphology	392255	GDF6	OMIM:118100
HP:0001595	Abnormal hair morphology	392255	GDF6	ORPHA:2345
HP:0001595	Abnormal hair morphology	79005	SCNM1	OMIM:620107
HP:0001595	Abnormal hair morphology	28952	CCDC22	OMIM:300963
HP:0001595	Abnormal hair morphology	4849	CNOT3	OMIM:618672
HP:0001595	Abnormal hair morphology	226	ALDOA	OMIM:611881
HP:0001595	Abnormal hair morphology	4222	MEOX1	OMIM:214300
HP:0001595	Abnormal hair morphology	4222	MEOX1	ORPHA:2345
HP:0001595	Abnormal hair morphology	80267	EDEM3	OMIM:619493
HP:0001595	Abnormal hair morphology	9897	WASHC5	OMIM:220210
HP:0001595	Abnormal hair morphology	23133	PHF8	ORPHA:85287
HP:0001595	Abnormal hair morphology	23133	PHF8	OMIM:300263
HP:0001595	Abnormal hair morphology	84700	MYO18B	OMIM:616549
HP:0001595	Abnormal hair morphology	4621	MYH3	ORPHA:2990
HP:0001595	Abnormal hair morphology	1146	CHRNG	ORPHA:2990
HP:0001595	Abnormal hair morphology	79087	ALG12	ORPHA:79324
HP:0001595	Abnormal hair morphology	9573	GDF3	ORPHA:2345
HP:0001595	Abnormal hair morphology	27152	INTU	OMIM:617925
HP:0001595	Abnormal hair morphology	10075	HUWE1	OMIM:309590
HP:0001595	Abnormal hair morphology	84520	GON7	OMIM:619603
HP:0001595	Abnormal hair morphology	8985	PLOD3	OMIM:612394
HP:0001595	Abnormal hair morphology	54084	TSPEAR	OMIM:618180
HP:0001595	Abnormal hair morphology	10054	UBA2	OMIM:619959
HP:0001595	Abnormal hair morphology	775	CACNA1C	OMIM:620029
HP:0001595	Abnormal hair morphology	7703	PCGF2	OMIM:618371
HP:0001595	Abnormal hair morphology	4914	NTRK1	OMIM:256800
HP:0001595	Abnormal hair morphology	79669	C3orf52	OMIM:620177
HP:0001595	Abnormal hair morphology	1062	CENPE	ORPHA:808
HP:0001595	Abnormal hair morphology	5932	RBBP8	ORPHA:808
HP:0001595	Abnormal hair morphology	79902	NUP85	ORPHA:808
HP:0001595	Abnormal hair morphology	84126	ATRIP	ORPHA:808
HP:0001595	Abnormal hair morphology	55835	CENPJ	ORPHA:808
HP:0001595	Abnormal hair morphology	22995	CEP152	ORPHA:808
HP:0001595	Abnormal hair morphology	64858	DCLRE1B	OMIM:620133
HP:0001595	Abnormal hair morphology	56896	DPYSL5	OMIM:619435
HP:0001595	Abnormal hair morphology	10087	CERT1	OMIM:616351
HP:0001595	Abnormal hair morphology	3188	HNRNPH2	OMIM:300986
HP:0001595	Abnormal hair morphology	2475	MTOR	ORPHA:457485
HP:0001595	Abnormal hair morphology	2475	MTOR	OMIM:616638
HP:0001595	Abnormal hair morphology	4952	OCRL	ORPHA:534
HP:0001595	Abnormal hair morphology	51132	RLIM	OMIM:300978
HP:0001595	Abnormal hair morphology	6821	SUOX	OMIM:272300
HP:0001595	Abnormal hair morphology	23522	KAT6B	ORPHA:85201
HP:0001595	Abnormal hair morphology	50485	SMARCAL1	OMIM:242900
HP:0001595	Abnormal hair morphology	8726	EED	ORPHA:3447
HP:0001595	Abnormal hair morphology	23309	SIN3B	ORPHA:500166
HP:0001595	Abnormal hair morphology	81603	TRIM8	OMIM:619428
HP:0001595	Abnormal hair morphology	9508	ADAMTS3	ORPHA:2136
HP:0001595	Abnormal hair morphology	79633	FAT4	ORPHA:2136
HP:0001595	Abnormal hair morphology	3122	HLA-DRA	ORPHA:505
HP:0001595	Abnormal hair morphology	2488	FSHB	ORPHA:52901
HP:0001595	Abnormal hair morphology	3972	LHB	OMIM:228300
HP:0001595	Abnormal hair morphology	1528	CYB5A	ORPHA:90796
HP:0001595	Abnormal hair morphology	558	AXL	OMIM:146110
HP:0001595	Abnormal hair morphology	2798	GNRHR	OMIM:146110
HP:0001595	Abnormal hair morphology	2796	GNRH1	OMIM:146110
HP:0001595	Abnormal hair morphology	10011	SRA1	OMIM:146110
HP:0001595	Abnormal hair morphology	55717	WDR11	OMIM:146110
HP:0001595	Abnormal hair morphology	8822	FGF17	OMIM:146110
HP:0001595	Abnormal hair morphology	1848	DUSP6	OMIM:146110
HP:0001595	Abnormal hair morphology	81848	SPRY4	OMIM:146110
HP:0001595	Abnormal hair morphology	285025	CCDC141	OMIM:146110
HP:0001595	Abnormal hair morphology	389549	FEZF1	OMIM:146110
HP:0001595	Abnormal hair morphology	6662	SOX9	ORPHA:251510
HP:0001595	Abnormal hair morphology	6845	VAMP7	ORPHA:251510
HP:0001595	Abnormal hair morphology	51741	WWOX	ORPHA:251510
HP:0001595	Abnormal hair morphology	2516	NR5A1	ORPHA:251510
HP:0001595	Abnormal hair morphology	7490	WT1	ORPHA:251510
HP:0001595	Abnormal hair morphology	58524	DMRT3	ORPHA:251510
HP:0001595	Abnormal hair morphology	57647	DHX37	ORPHA:251510
HP:0001595	Abnormal hair morphology	6736	SRY	ORPHA:251510
HP:0001595	Abnormal hair morphology	23414	ZFPM2	ORPHA:251510
HP:0001595	Abnormal hair morphology	190	NR0B1	ORPHA:251510
HP:0001595	Abnormal hair morphology	2626	GATA4	ORPHA:251510
HP:0001595	Abnormal hair morphology	23594	ORC6	OMIM:613803
HP:0001595	Abnormal hair morphology	79991	STN1	OMIM:617341
HP:0001595	Abnormal hair morphology	6117	RPA1	OMIM:619767
HP:0001595	Abnormal hair morphology	51085	MLXIPL	OMIM:194050
HP:0001595	Abnormal hair morphology	2006	ELN	OMIM:194050
HP:0001595	Abnormal hair morphology	4193	MDM2	OMIM:618681
HP:0001595	Abnormal hair morphology	79184	BRCC3	ORPHA:280679
HP:0001595	Abnormal hair morphology	4507	MTAP	OMIM:112250
HP:0001595	Abnormal hair morphology	355	FAS	ORPHA:3437
HP:0001595	Abnormal hair morphology	26191	PTPN22	ORPHA:3437
HP:0001595	Abnormal hair morphology	8884	SLC5A6	OMIM:619903
HP:0001595	Abnormal hair morphology	7025	NR2F1	OMIM:615722
HP:0001595	Abnormal hair morphology	25778	DSTYK	ORPHA:101003
HP:0001595	Abnormal hair morphology	388552	BLOC1S3	OMIM:614077
HP:0001595	Abnormal hair morphology	145173	B3GLCT	OMIM:261540
HP:0001595	Abnormal hair morphology	3077	HFE	OMIM:176100
HP:0001595	Abnormal hair morphology	348	APOE	OMIM:269600
HP:0001595	Abnormal hair morphology	79574	EPS8L3	OMIM:612841
HP:0001595	Abnormal hair morphology	1586	CYP17A1	ORPHA:90793
HP:0001595	Abnormal hair morphology	6926	TBX3	ORPHA:3138
HP:0001595	Abnormal hair morphology	84946	LTV1	OMIM:620199
HP:0001595	Abnormal hair morphology	8139	GAN	ORPHA:643
HP:0001595	Abnormal hair morphology	7286	TUFT1	OMIM:607655
HP:0001595	Abnormal hair morphology	1829	DSG2	OMIM:610193
HP:0001595	Abnormal hair morphology	25959	KANK2	OMIM:616099
HP:0001595	Abnormal hair morphology	1824	DSC2	OMIM:610476
HP:0001595	Abnormal hair morphology	29893	PSMC3IP	ORPHA:243
HP:0001595	Abnormal hair morphology	171568	POLR3H	ORPHA:243
HP:0001595	Abnormal hair morphology	125150	ZSWIM7	ORPHA:243
HP:0001595	Abnormal hair morphology	57122	NUP107	ORPHA:243
HP:0001595	Abnormal hair morphology	23514	SPIDR	ORPHA:243
HP:0001595	Abnormal hair morphology	56945	MRPS22	ORPHA:243
HP:0001595	Abnormal hair morphology	646	BNC1	ORPHA:243
HP:0001595	Abnormal hair morphology	3730	ANOS1	OMIM:308700
HP:0001595	Abnormal hair morphology	92482	BBIP1	ORPHA:110
HP:0001595	Abnormal hair morphology	11020	IFT27	ORPHA:110
HP:0001595	Abnormal hair morphology	49855	SCAPER	ORPHA:110
HP:0001595	Abnormal hair morphology	51057	WDPCP	ORPHA:110
HP:0001595	Abnormal hair morphology	27241	BBS9	ORPHA:110
HP:0001595	Abnormal hair morphology	84984	CEP19	ORPHA:110
HP:0001595	Abnormal hair morphology	22954	TRIM32	ORPHA:110
HP:0001595	Abnormal hair morphology	79738	BBS10	ORPHA:110
HP:0001595	Abnormal hair morphology	123016	TTC8	ORPHA:110
HP:0001595	Abnormal hair morphology	26160	IFT172	ORPHA:110
HP:0001595	Abnormal hair morphology	583	BBS2	ORPHA:110
HP:0001595	Abnormal hair morphology	585	BBS4	ORPHA:110
HP:0001595	Abnormal hair morphology	8195	MKKS	ORPHA:110
HP:0001595	Abnormal hair morphology	54585	LZTFL1	ORPHA:110
HP:0001595	Abnormal hair morphology	55212	BBS7	ORPHA:110
HP:0001595	Abnormal hair morphology	166379	BBS12	ORPHA:110
HP:0001595	Abnormal hair morphology	10806	SDCCAG8	ORPHA:110
HP:0001595	Abnormal hair morphology	157657	CFAP418	ORPHA:110
HP:0001595	Abnormal hair morphology	129880	BBS5	ORPHA:110
HP:0001595	Abnormal hair morphology	80173	IFT74	ORPHA:110
HP:0001595	Abnormal hair morphology	5728	PTEN	ORPHA:744
HP:0001595	Abnormal hair morphology	207	AKT1	ORPHA:744
HP:0001595	Abnormal hair morphology	63916	ELMO2	ORPHA:3019
HP:0001595	Abnormal hair morphology	3664	IRF6	ORPHA:1300
HP:0001595	Abnormal hair morphology	83550	GPR101	ORPHA:963
HP:0001595	Abnormal hair morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001595	Abnormal hair morphology	203068	TUBB	ORPHA:2505
HP:0001595	Abnormal hair morphology	10982	MAPRE2	ORPHA:2505
HP:0001595	Abnormal hair morphology	2707	GJB3	ORPHA:317
HP:0001595	Abnormal hair morphology	2531	KDSR	ORPHA:317
HP:0001595	Abnormal hair morphology	8803	SUCLA2	ORPHA:1933
HP:0001595	Abnormal hair morphology	1588	CYP19A1	ORPHA:91
HP:0001595	Abnormal hair morphology	2260	FGFR1	ORPHA:432
HP:0001595	Abnormal hair morphology	128674	PROKR2	ORPHA:432
HP:0001595	Abnormal hair morphology	2253	FGF8	ORPHA:432
HP:0001595	Abnormal hair morphology	60675	PROK2	ORPHA:432
HP:0001595	Abnormal hair morphology	6870	TACR3	ORPHA:432
HP:0001595	Abnormal hair morphology	26012	NSMF	ORPHA:432
HP:0001595	Abnormal hair morphology	9394	HS6ST1	ORPHA:432
HP:0001595	Abnormal hair morphology	84634	KISS1R	ORPHA:432
HP:0001595	Abnormal hair morphology	6866	TAC3	ORPHA:432
HP:0001595	Abnormal hair morphology	3814	KISS1	ORPHA:432
HP:0001595	Abnormal hair morphology	54800	KLHL24	OMIM:617294
HP:0001595	Abnormal hair morphology	2332	FMR1	ORPHA:261483
HP:0001595	Abnormal hair morphology	1893	ECM1	OMIM:247100
HP:0001595	Abnormal hair morphology	28755	TRAC	OMIM:615387
HP:0001595	Abnormal hair morphology	3559	IL2RA	OMIM:606367
HP:0001595	Abnormal hair morphology	324	APC	ORPHA:261584
HP:0001595	Abnormal hair morphology	7528	YY1	ORPHA:506358
HP:0001595	Abnormal hair morphology	7528	YY1	OMIM:617557
HP:0001595	Abnormal hair morphology	5422	POLA1	OMIM:301220
HP:0001595	Abnormal hair morphology	8473	OGT	OMIM:300997
HP:0001595	Abnormal hair morphology	815	CAMK2A	OMIM:617798
HP:0001595	Abnormal hair morphology	23389	MED13L	ORPHA:369891
HP:0001595	Abnormal hair morphology	9742	IFT140	OMIM:266920
HP:0001595	Abnormal hair morphology	27086	FOXP1	ORPHA:391372
HP:0001595	Abnormal hair morphology	9758	FRMPD4	OMIM:300983
HP:0001595	Abnormal hair morphology	6925	TCF4	OMIM:610954
HP:0001595	Abnormal hair morphology	5144	PDE4D	ORPHA:280651
HP:0001595	Abnormal hair morphology	5144	PDE4D	OMIM:614613
HP:0001595	Abnormal hair morphology	23556	PIGN	ORPHA:280633
HP:0001595	Abnormal hair morphology	26503	SLC17A5	OMIM:269920
HP:0001595	Abnormal hair morphology	283652	SLC24A5	OMIM:113750
HP:0001595	Abnormal hair morphology	6901	TAFAZZIN	OMIM:302060
HP:0001595	Abnormal hair morphology	20	ABCA2	OMIM:618808
HP:0001595	Abnormal hair morphology	326	AIRE	OMIM:240300
HP:0001595	Abnormal hair morphology	7421	VDR	OMIM:277440
HP:0001595	Abnormal hair morphology	7555	CNBP	OMIM:602668
HP:0001595	Abnormal hair morphology	1760	DMPK	OMIM:160900
HP:0001595	Abnormal hair morphology	6513	SLC2A1	ORPHA:1942
HP:0001595	Abnormal hair morphology	8831	SYNGAP1	ORPHA:1942
HP:0001595	Abnormal hair morphology	1173	AP2M1	ORPHA:1942
HP:0001595	Abnormal hair morphology	6323	SCN1A	ORPHA:1942
HP:0001595	Abnormal hair morphology	340533	NEXMIF	ORPHA:1942
HP:0001595	Abnormal hair morphology	1106	CHD2	ORPHA:1942
HP:0001595	Abnormal hair morphology	6529	SLC6A1	ORPHA:1942
HP:0001595	Abnormal hair morphology	10999	SLC27A4	OMIM:608649
HP:0001595	Abnormal hair morphology	5122	PCSK1	ORPHA:71528
HP:0001595	Abnormal hair morphology	5443	POMC	OMIM:609734
HP:0001595	Abnormal hair morphology	5443	POMC	ORPHA:71526
HP:0001595	Abnormal hair morphology	51095	TRNT1	OMIM:616084
HP:0001595	Abnormal hair morphology	875	CBS	OMIM:236200
HP:0001595	Abnormal hair morphology	222663	SCUBE3	OMIM:619184
HP:0001595	Abnormal hair morphology	81607	NECTIN4	OMIM:613573
HP:0001595	Abnormal hair morphology	367	AR	OMIM:300068
HP:0001595	Abnormal hair morphology	26137	ZBTB20	OMIM:259050
HP:0001595	Abnormal hair morphology	8243	SMC1A	OMIM:300590
HP:0001595	Abnormal hair morphology	8243	SMC1A	OMIM:301044
HP:0001595	Abnormal hair morphology	8243	SMC1A	ORPHA:199
HP:0001595	Abnormal hair morphology	10128	LRPPRC	OMIM:220111
HP:0001595	Abnormal hair morphology	8294	H4C9	OMIM:619951
HP:0001595	Abnormal hair morphology	50651	SLC45A1	OMIM:617532
HP:0001595	Abnormal hair morphology	9853	RUSC2	OMIM:617773
HP:0001595	Abnormal hair morphology	26128	KIFBP	OMIM:609460
HP:0001595	Abnormal hair morphology	23334	SZT2	OMIM:615476
HP:0001595	Abnormal hair morphology	6228	RPS23	OMIM:617412
HP:0001595	Abnormal hair morphology	5885	RAD21	OMIM:614701
HP:0001595	Abnormal hair morphology	5885	RAD21	ORPHA:199
HP:0001595	Abnormal hair morphology	55627	SMPD4	OMIM:618622
HP:0001595	Abnormal hair morphology	7360	UGP2	OMIM:618744
HP:0001595	Abnormal hair morphology	7021	TFAP2B	OMIM:169100
HP:0001595	Abnormal hair morphology	55777	MBD5	ORPHA:228402
HP:0001595	Abnormal hair morphology	55777	MBD5	OMIM:156200
HP:0001595	Abnormal hair morphology	55209	SETD5	ORPHA:404440
HP:0001595	Abnormal hair morphology	9578	CDC42BPB	OMIM:619841
HP:0001595	Abnormal hair morphology	613	BCR	ORPHA:261330
HP:0001595	Abnormal hair morphology	1399	CRKL	ORPHA:261330
HP:0001595	Abnormal hair morphology	80816	ASXL3	OMIM:615485
HP:0001595	Abnormal hair morphology	80816	ASXL3	ORPHA:352577
HP:0001595	Abnormal hair morphology	9442	MED27	OMIM:619286
HP:0001595	Abnormal hair morphology	23322	RPGRIP1L	ORPHA:220497
HP:0001595	Abnormal hair morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001595	Abnormal hair morphology	4867	NPHP1	ORPHA:220497
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:220497
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:475
HP:0001595	Abnormal hair morphology	65062	TMEM237	OMIM:614424
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:2318
HP:0001595	Abnormal hair morphology	55690	PACS1	OMIM:615009
HP:0001595	Abnormal hair morphology	55690	PACS1	ORPHA:329224
HP:0001595	Abnormal hair morphology	54806	AHI1	ORPHA:220493
HP:0001595	Abnormal hair morphology	54806	AHI1	ORPHA:475
HP:0001595	Abnormal hair morphology	54806	AHI1	OMIM:608629
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:220493
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:475
HP:0001595	Abnormal hair morphology	56623	INPP5E	OMIM:213300
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:1454
HP:0001595	Abnormal hair morphology	153241	CEP120	ORPHA:220493
HP:0001595	Abnormal hair morphology	153241	CEP120	ORPHA:475
HP:0001595	Abnormal hair morphology	54903	MKS1	ORPHA:220493
HP:0001595	Abnormal hair morphology	54903	MKS1	ORPHA:475
HP:0001595	Abnormal hair morphology	54903	MKS1	OMIM:617121
HP:0001595	Abnormal hair morphology	95681	CEP41	ORPHA:220493
HP:0001595	Abnormal hair morphology	95681	CEP41	ORPHA:475
HP:0001595	Abnormal hair morphology	80055	PGAP1	OMIM:615802
HP:0001595	Abnormal hair morphology	23384	SPECC1L	ORPHA:1519
HP:0001595	Abnormal hair morphology	23384	SPECC1L	OMIM:145420
HP:0001595	Abnormal hair morphology	5818	NECTIN1	ORPHA:3253
HP:0001595	Abnormal hair morphology	29072	SETD2	OMIM:620157
HP:0001595	Abnormal hair morphology	29072	SETD2	OMIM:620155
HP:0001595	Abnormal hair morphology	55780	ERMARD	ORPHA:75857
HP:0001595	Abnormal hair morphology	10978	CLP1	OMIM:615803
HP:0001595	Abnormal hair morphology	10978	CLP1	ORPHA:411493
HP:0001595	Abnormal hair morphology	55636	CHD7	ORPHA:138
HP:0001595	Abnormal hair morphology	9723	SEMA3E	ORPHA:138
HP:0001595	Abnormal hair morphology	55650	PIGV	OMIM:239300
HP:0001595	Abnormal hair morphology	55650	PIGV	ORPHA:247262
HP:0001595	Abnormal hair morphology	6197	RPS6KA3	OMIM:303600
HP:0001595	Abnormal hair morphology	1185	CLCN6	OMIM:619173
HP:0001595	Abnormal hair morphology	84992	PIGY	ORPHA:247262
HP:0001595	Abnormal hair morphology	84720	PIGO	ORPHA:247262
HP:0001595	Abnormal hair morphology	93210	PGAP3	ORPHA:247262
HP:0001595	Abnormal hair morphology	284098	PIGW	ORPHA:247262
HP:0001595	Abnormal hair morphology	27315	PGAP2	ORPHA:247262
HP:0001595	Abnormal hair morphology	9487	PIGL	ORPHA:247262
HP:0001595	Abnormal hair morphology	9487	PIGL	OMIM:280000
HP:0001595	Abnormal hair morphology	317662	FAM149B1	OMIM:618763
HP:0001595	Abnormal hair morphology	317662	FAM149B1	ORPHA:2754
HP:0001595	Abnormal hair morphology	10584	COLEC10	OMIM:248340
HP:0001595	Abnormal hair morphology	10584	COLEC10	ORPHA:293843
HP:0001595	Abnormal hair morphology	818	CAMK2G	OMIM:618522
HP:0001595	Abnormal hair morphology	9469	CHST3	OMIM:143095
HP:0001595	Abnormal hair morphology	9469	CHST3	ORPHA:263463
HP:0001595	Abnormal hair morphology	54880	BCOR	ORPHA:2712
HP:0001595	Abnormal hair morphology	23184	MESD	OMIM:618644
HP:0001595	Abnormal hair morphology	93627	TBCK	OMIM:616900
HP:0001595	Abnormal hair morphology	23325	WASHC4	OMIM:615817
HP:0001595	Abnormal hair morphology	9839	ZEB2	ORPHA:261552
HP:0001595	Abnormal hair morphology	10815	CPLX1	ORPHA:280
HP:0001595	Abnormal hair morphology	10815	CPLX1	OMIM:194190
HP:0001595	Abnormal hair morphology	10815	CPLX1	OMIM:617976
HP:0001595	Abnormal hair morphology	54872	PIGG	ORPHA:280
HP:0001595	Abnormal hair morphology	7469	NELFA	ORPHA:280
HP:0001595	Abnormal hair morphology	1487	CTBP1	ORPHA:280
HP:0001595	Abnormal hair morphology	1487	CTBP1	OMIM:194190
HP:0001595	Abnormal hair morphology	3954	LETM1	ORPHA:280
HP:0001595	Abnormal hair morphology	3954	LETM1	OMIM:194190
HP:0001595	Abnormal hair morphology	7468	NSD2	ORPHA:280
HP:0001595	Abnormal hair morphology	7468	NSD2	OMIM:194190
HP:0001595	Abnormal hair morphology	7468	NSD2	OMIM:619695
HP:0001595	Abnormal hair morphology	4330	MN1	OMIM:618774
HP:0001595	Abnormal hair morphology	1656	DDX6	OMIM:618653
HP:0001595	Abnormal hair morphology	4212	MEIS2	OMIM:600987
HP:0001595	Abnormal hair morphology	26053	AUTS2	ORPHA:352490
HP:0001595	Abnormal hair morphology	26053	AUTS2	OMIM:615834
HP:0001595	Abnormal hair morphology	55012	PPP2R3C	OMIM:618419
HP:0001595	Abnormal hair morphology	1009	CDH11	ORPHA:1299
HP:0001595	Abnormal hair morphology	1954	MEGF8	OMIM:614976
HP:0001595	Abnormal hair morphology	53834	FGFRL1	OMIM:194190
HP:0001595	Abnormal hair morphology	79600	TCTN1	ORPHA:475
HP:0001595	Abnormal hair morphology	79848	CSPP1	ORPHA:475
HP:0001595	Abnormal hair morphology	51684	SUFU	ORPHA:475
HP:0001595	Abnormal hair morphology	65250	CPLANE1	ORPHA:475
HP:0001595	Abnormal hair morphology	65250	CPLANE1	ORPHA:2754
HP:0001595	Abnormal hair morphology	91147	TMEM67	ORPHA:475
HP:0001595	Abnormal hair morphology	91147	TMEM67	ORPHA:1454
HP:0001595	Abnormal hair morphology	200894	ARL13B	ORPHA:475
HP:0001595	Abnormal hair morphology	9731	CEP104	ORPHA:475
HP:0001595	Abnormal hair morphology	219844	HYLS1	ORPHA:475
HP:0001595	Abnormal hair morphology	23247	KATNIP	ORPHA:475
HP:0001595	Abnormal hair morphology	219854	TMEM218	ORPHA:475
HP:0001595	Abnormal hair morphology	9786	KIAA0586	ORPHA:475
HP:0001595	Abnormal hair morphology	79867	TCTN2	ORPHA:475
HP:0001595	Abnormal hair morphology	80776	B9D2	ORPHA:475
HP:0001595	Abnormal hair morphology	10464	PIBF1	ORPHA:475
HP:0001595	Abnormal hair morphology	80210	ARMC9	ORPHA:475
HP:0001595	Abnormal hair morphology	23116	TOGARAM1	ORPHA:475
HP:0001595	Abnormal hair morphology	25776	CBY1	ORPHA:475
HP:0001595	Abnormal hair morphology	27077	B9D1	ORPHA:475
HP:0001595	Abnormal hair morphology	403	ARL3	ORPHA:475
HP:0001595	Abnormal hair morphology	403	ARL3	OMIM:618161
HP:0001595	Abnormal hair morphology	5792	PTPRF	OMIM:616001
HP:0001595	Abnormal hair morphology	51633	OTUD6B	OMIM:617452
HP:0001595	Abnormal hair morphology	51633	OTUD6B	ORPHA:505237
HP:0001595	Abnormal hair morphology	8363	H4C11	OMIM:619759
HP:0001595	Abnormal hair morphology	78989	COLEC11	OMIM:265050
HP:0001595	Abnormal hair morphology	78989	COLEC11	ORPHA:293843
HP:0001595	Abnormal hair morphology	10472	ZBTB18	OMIM:612337
HP:0001595	Abnormal hair morphology	668	FOXL2	ORPHA:572333
HP:0001595	Abnormal hair morphology	668	FOXL2	OMIM:110100
HP:0001595	Abnormal hair morphology	3187	HNRNPH1	OMIM:620083
HP:0001595	Abnormal hair morphology	4123	MAN2C1	OMIM:619775
HP:0001595	Abnormal hair morphology	10735	STAG2	ORPHA:521258
HP:0001595	Abnormal hair morphology	23483	TGDS	ORPHA:1388
HP:0001595	Abnormal hair morphology	7994	KAT6A	OMIM:616268
HP:0001595	Abnormal hair morphology	25836	NIPBL	OMIM:122470
HP:0001595	Abnormal hair morphology	25836	NIPBL	ORPHA:199
HP:0001595	Abnormal hair morphology	79791	FBXO31	OMIM:615979
HP:0001595	Abnormal hair morphology	22856	CHSY1	OMIM:605282
HP:0001595	Abnormal hair morphology	8295	TRRAP	OMIM:618454
HP:0001595	Abnormal hair morphology	8621	CDK13	OMIM:617360
HP:0001595	Abnormal hair morphology	9427	ECEL1	OMIM:615065
HP:0001595	Abnormal hair morphology	84188	FAR1	OMIM:616154
HP:0001595	Abnormal hair morphology	84188	FAR1	ORPHA:438178
HP:0001595	Abnormal hair morphology	2702	GJA5	OMIM:612474
HP:0001595	Abnormal hair morphology	2703	GJA8	OMIM:612474
HP:0001595	Abnormal hair morphology	2033	EP300	OMIM:613684
HP:0001595	Abnormal hair morphology	2033	EP300	ORPHA:353284
HP:0001595	Abnormal hair morphology	2033	EP300	OMIM:180849
HP:0001595	Abnormal hair morphology	867	CBL	OMIM:613563
HP:0001595	Abnormal hair morphology	6878	TAF6	OMIM:617126
HP:0001595	Abnormal hair morphology	157570	ESCO2	OMIM:216100
HP:0001595	Abnormal hair morphology	157570	ESCO2	ORPHA:2319
HP:0001595	Abnormal hair morphology	23013	SPEN	OMIM:619312
HP:0001595	Abnormal hair morphology	54892	NCAPG2	OMIM:618460
HP:0001595	Abnormal hair morphology	54517	PUS7	OMIM:618342
HP:0001595	Abnormal hair morphology	5648	MASP1	OMIM:257920
HP:0001595	Abnormal hair morphology	5648	MASP1	ORPHA:293843
HP:0001595	Abnormal hair morphology	9759	HDAC4	ORPHA:1001
HP:0001595	Abnormal hair morphology	9759	HDAC4	OMIM:600430
HP:0001595	Abnormal hair morphology	92335	STRADA	ORPHA:500533
HP:0001595	Abnormal hair morphology	79813	EHMT1	ORPHA:96147
HP:0001595	Abnormal hair morphology	27125	AFF4	ORPHA:444077
HP:0001595	Abnormal hair morphology	55869	HDAC8	OMIM:300882
HP:0001595	Abnormal hair morphology	55869	HDAC8	ORPHA:199
HP:0001595	Abnormal hair morphology	1349	COX7B	OMIM:300887
HP:0001595	Abnormal hair morphology	29998	BICRA	OMIM:619325
HP:0001595	Abnormal hair morphology	113179	ADAT3	ORPHA:363528
HP:0001595	Abnormal hair morphology	3313	HSPA9	OMIM:616854
HP:0001595	Abnormal hair morphology	8085	KMT2D	ORPHA:2322
HP:0001595	Abnormal hair morphology	8085	KMT2D	OMIM:147920
HP:0001595	Abnormal hair morphology	7403	KDM6A	ORPHA:2322
HP:0001595	Abnormal hair morphology	7403	KDM6A	OMIM:300867
HP:0001595	Abnormal hair morphology	7403	KDM6A	OMIM:147920
HP:0001595	Abnormal hair morphology	998	CDC42	OMIM:616737
HP:0001595	Abnormal hair morphology	998	CDC42	ORPHA:487796
HP:0001595	Abnormal hair morphology	9126	SMC3	OMIM:610759
HP:0001595	Abnormal hair morphology	9126	SMC3	ORPHA:199
HP:0001595	Abnormal hair morphology	4297	KMT2A	OMIM:605130
HP:0001595	Abnormal hair morphology	56975	FAM20C	OMIM:259775
HP:0001595	Abnormal hair morphology	23221	RHOBTB2	OMIM:618004
HP:0001595	Abnormal hair morphology	4052	LTBP1	OMIM:619451
HP:0001595	Abnormal hair morphology	3756	KCNH1	OMIM:135500
HP:0001595	Abnormal hair morphology	11253	MAN1B1	OMIM:614202
HP:0001595	Abnormal hair morphology	23511	NUP188	OMIM:618804
HP:0001595	Abnormal hair morphology	26999	CYFIP2	OMIM:618008
HP:0001595	Abnormal hair morphology	79583	TMEM231	ORPHA:2318
HP:0001595	Abnormal hair morphology	51524	TMEM138	ORPHA:2318
HP:0001595	Abnormal hair morphology	23090	ZNF423	ORPHA:2318
HP:0001595	Abnormal hair morphology	80184	CEP290	ORPHA:2318
HP:0001595	Abnormal hair morphology	51259	TMEM216	ORPHA:2318
HP:0001595	Abnormal hair morphology	51259	TMEM216	ORPHA:2754
HP:0001595	Abnormal hair morphology	57545	CC2D2A	ORPHA:2318
HP:0001595	Abnormal hair morphology	57545	CC2D2A	ORPHA:1454
HP:0001595	Abnormal hair morphology	6045	RNF2	OMIM:619460
HP:0001595	Abnormal hair morphology	9496	TBX4	ORPHA:261279
HP:0001595	Abnormal hair morphology	51305	KCNK9	ORPHA:166108
HP:0001595	Abnormal hair morphology	51305	KCNK9	OMIM:612292
HP:0001595	Abnormal hair morphology	60	ACTB	OMIM:243310
HP:0001595	Abnormal hair morphology	60	ACTB	ORPHA:2995
HP:0001595	Abnormal hair morphology	23476	BRD4	ORPHA:199
HP:0001595	Abnormal hair morphology	71	ACTG1	OMIM:614583
HP:0001595	Abnormal hair morphology	71	ACTG1	ORPHA:2995
HP:0001595	Abnormal hair morphology	348180	CTU2	OMIM:618142
HP:0001595	Abnormal hair morphology	94005	PIGS	OMIM:618143
HP:0001595	Abnormal hair morphology	1387	CREBBP	OMIM:180849
HP:0001595	Abnormal hair morphology	1387	CREBBP	ORPHA:353277
HP:0001595	Abnormal hair morphology	7204	TRIO	OMIM:618825
HP:0001595	Abnormal hair morphology	8405	SPOP	OMIM:618828
HP:0001595	Abnormal hair morphology	1457	CSNK2A1	OMIM:617062
HP:0001595	Abnormal hair morphology	2571	GAD1	OMIM:619124
HP:0001595	Abnormal hair morphology	55617	TASP1	OMIM:618950
HP:0001595	Abnormal hair morphology	8567	MADD	OMIM:619005
HP:0001595	Abnormal hair morphology	6472	SHMT2	OMIM:619121
HP:0001595	Abnormal hair morphology	91875	TTC5	OMIM:619244
HP:0001595	Abnormal hair morphology	57688	ZSWIM6	OMIM:617865
HP:0001595	Abnormal hair morphology	5500	PPP1CB	OMIM:617506
HP:0001595	Abnormal hair morphology	113246	C12orf57	OMIM:218340
HP:0001595	Abnormal hair morphology	55691	FRMD4A	ORPHA:466688
HP:0001595	Abnormal hair morphology	259266	ASPM	OMIM:608716
HP:0001595	Abnormal hair morphology	57020	VPS35L	OMIM:619135
HP:0001595	Abnormal hair morphology	5879	RAC1	OMIM:617751
HP:0001595	Abnormal hair morphology	5879	RAC1	ORPHA:500159
HP:0001595	Abnormal hair morphology	10210	TOPORS	ORPHA:2754
HP:0001595	Abnormal hair morphology	26123	TCTN3	ORPHA:2754
HP:0001595	Abnormal hair morphology	5147	PDE6D	ORPHA:2754
HP:0001595	Abnormal hair morphology	8481	OFD1	ORPHA:2754
HP:0001595	Abnormal hair morphology	374654	KIF7	ORPHA:2754
HP:0001595	Abnormal hair morphology	3480	IGF1R	OMIM:270450
HP:0001595	Abnormal hair morphology	58499	ZNF462	OMIM:618619
HP:0001595	Abnormal hair morphology	1308	COL17A1	OMIM:619787
HP:0001595	Abnormal hair morphology	1308	COL17A1	ORPHA:251393
HP:0001595	Abnormal hair morphology	1308	COL17A1	ORPHA:79402
HP:0001595	Abnormal hair morphology	5339	PLEC	OMIM:226670
HP:0001595	Abnormal hair morphology	5339	PLEC	ORPHA:158684
HP:0001595	Abnormal hair morphology	3691	ITGB4	ORPHA:158684
HP:0001595	Abnormal hair morphology	3691	ITGB4	ORPHA:251393
HP:0001595	Abnormal hair morphology	3691	ITGB4	ORPHA:79402
HP:0001595	Abnormal hair morphology	387	RHOA	OMIM:618727
HP:0001595	Abnormal hair morphology	2623	GATA1	ORPHA:79277
HP:0001595	Abnormal hair morphology	7389	UROD	ORPHA:95159
HP:0001595	Abnormal hair morphology	3909	LAMA3	ORPHA:79402
HP:0001595	Abnormal hair morphology	3918	LAMC2	ORPHA:79402
HP:0001595	Abnormal hair morphology	3914	LAMB3	ORPHA:79402
HP:0001595	Abnormal hair morphology	4758	NEU1	ORPHA:93399
HP:0001595	Abnormal hair morphology	4758	NEU1	ORPHA:93400
HP:0001595	Abnormal hair morphology	10297	APC2	ORPHA:821
HP:0001595	Abnormal hair morphology	11005	SPINK5	OMIM:256500
HP:0001595	Abnormal hair morphology	80232	WDR26	OMIM:617616
HP:0001595	Abnormal hair morphology	80232	WDR26	ORPHA:513456
HP:0001595	Abnormal hair morphology	5361	PLXNA1	OMIM:619955
HP:0001595	Abnormal hair morphology	57511	COG6	ORPHA:363523
HP:0001595	Abnormal hair morphology	51111	KMT5B	OMIM:617788
HP:0001595	Abnormal hair morphology	3190	HNRNPK	OMIM:616580
HP:0001595	Abnormal hair morphology	92255	LMBRD2	OMIM:619694
HP:0001595	Abnormal hair morphology	545	ATR	OMIM:614564
HP:0001595	Abnormal hair morphology	10524	KAT5	OMIM:619103
HP:0001595	Abnormal hair morphology	341208	HEPHL1	OMIM:261990
HP:0001595	Abnormal hair morphology	5813	PURA	ORPHA:314655
HP:0001595	Abnormal hair morphology	8456	FOXN1	ORPHA:169095
HP:0001595	Abnormal hair morphology	7299	TYR	OMIM:606952
HP:0001595	Abnormal hair morphology	7299	TYR	OMIM:203100
HP:0001595	Abnormal hair morphology	7299	TYR	ORPHA:895
HP:0001595	Abnormal hair morphology	7299	TYR	ORPHA:79431
HP:0001595	Abnormal hair morphology	7299	TYR	ORPHA:79434
HP:0001595	Abnormal hair morphology	1497	CTNS	OMIM:219800
HP:0001595	Abnormal hair morphology	3257	HPS1	OMIM:203300
HP:0001595	Abnormal hair morphology	7681	MKRN3	OMIM:176270
HP:0001595	Abnormal hair morphology	3653	IPW	OMIM:176270
HP:0001595	Abnormal hair morphology	54551	MAGEL2	OMIM:176270
HP:0001595	Abnormal hair morphology	54551	MAGEL2	ORPHA:98754
HP:0001595	Abnormal hair morphology	54551	MAGEL2	ORPHA:177904
HP:0001595	Abnormal hair morphology	54551	MAGEL2	ORPHA:177901
HP:0001595	Abnormal hair morphology	54551	MAGEL2	ORPHA:398069
HP:0001595	Abnormal hair morphology	54551	MAGEL2	ORPHA:177910
HP:0001595	Abnormal hair morphology	791114	PWRN1	OMIM:176270
HP:0001595	Abnormal hair morphology	100033413	SNORD116-1	OMIM:176270
HP:0001595	Abnormal hair morphology	8924	HERC2	OMIM:176270
HP:0001595	Abnormal hair morphology	145624	PWAR1	OMIM:176270
HP:0001595	Abnormal hair morphology	23742	NPAP1	OMIM:176270
HP:0001595	Abnormal hair morphology	338433	SNORD115-1	OMIM:176270
HP:0001595	Abnormal hair morphology	472	ATM	ORPHA:100
HP:0001595	Abnormal hair morphology	4644	MYO5A	ORPHA:33445
HP:0001595	Abnormal hair morphology	4644	MYO5A	ORPHA:79478
HP:0001595	Abnormal hair morphology	84343	HPS3	OMIM:614072
HP:0001595	Abnormal hair morphology	1638	DCT	OMIM:619165
HP:0001595	Abnormal hair morphology	6492	SIM1	ORPHA:398079
HP:0001595	Abnormal hair morphology	1717	DHCR7	ORPHA:818
HP:0001595	Abnormal hair morphology	1130	LYST	OMIM:214500
HP:0001595	Abnormal hair morphology	1130	LYST	ORPHA:167
HP:0001595	Abnormal hair morphology	5053	PAH	ORPHA:79254
HP:0001595	Abnormal hair morphology	1908	EDN3	ORPHA:897
HP:0001595	Abnormal hair morphology	4286	MITF	ORPHA:897
HP:0001595	Abnormal hair morphology	4286	MITF	ORPHA:895
HP:0001595	Abnormal hair morphology	4286	MITF	ORPHA:42665
HP:0001595	Abnormal hair morphology	1910	EDNRB	ORPHA:897
HP:0001595	Abnormal hair morphology	1910	EDNRB	ORPHA:895
HP:0001595	Abnormal hair morphology	6663	SOX10	ORPHA:897
HP:0001595	Abnormal hair morphology	6663	SOX10	ORPHA:895
HP:0001595	Abnormal hair morphology	6663	SOX10	ORPHA:163746
HP:0001595	Abnormal hair morphology	6591	SNAI2	ORPHA:2884
HP:0001595	Abnormal hair morphology	6591	SNAI2	ORPHA:895
HP:0001595	Abnormal hair morphology	3815	KIT	ORPHA:2884
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:98754
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177904
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177901
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177910
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177907
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:411515
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:98754
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177904
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177901
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177910
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:98754
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:98794
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:177904
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:177901
HP:0001595	Abnormal hair morphology	4948	OCA2	OMIM:203200
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:79432
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:98794
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:98795
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:411511
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:411515
HP:0001595	Abnormal hair morphology	4254	KITLG	ORPHA:895
HP:0001595	Abnormal hair morphology	57724	EPG5	OMIM:242840
HP:0001595	Abnormal hair morphology	5077	PAX3	ORPHA:894
HP:0001595	Abnormal hair morphology	4157	MC1R	OMIM:203200
HP:0001595	Abnormal hair morphology	4157	MC1R	ORPHA:79432
HP:0001595	Abnormal hair morphology	51151	SLC45A2	OMIM:606574
HP:0001595	Abnormal hair morphology	51151	SLC45A2	ORPHA:79435
HP:0001595	Abnormal hair morphology	28956	LAMTOR2	ORPHA:90023
HP:0001595	Abnormal hair morphology	538	ATP7A	ORPHA:565
HP:0001595	Abnormal hair morphology	57194	ATP10A	ORPHA:411515
HP:0001595	Abnormal hair morphology	5873	RAB27A	ORPHA:79477
HP:0001595	Abnormal hair morphology	79083	MLPH	ORPHA:79478
HP:0001595	Abnormal hair morphology	10269	ZMPSTE24	ORPHA:740
HP:0001595	Abnormal hair morphology	1832	DSP	OMIM:609638
HP:0001595	Abnormal hair morphology	4791	NFKB2	ORPHA:293978
HP:0001595	Abnormal hair morphology	4791	NFKB2	OMIM:615577
HP:0001595	Abnormal hair morphology	7386	UQCRFS1	OMIM:618775
HP:0001595	Abnormal hair morphology	54101	RIPK4	OMIM:263650
HP:0001595	Abnormal hair morphology	54101	RIPK4	ORPHA:1234
HP:0001595	Abnormal hair morphology	60529	ALX4	OMIM:613451
HP:0001595	Abnormal hair morphology	51360	MBTPS2	OMIM:300918
HP:0001595	Abnormal hair morphology	9401	RECQL4	ORPHA:221016
HP:0001595	Abnormal hair morphology	10804	GJB6	OMIM:129500
HP:0001595	Abnormal hair morphology	64682	ANAPC1	ORPHA:221008
HP:0001595	Abnormal hair morphology	10262	SF3B4	ORPHA:245
HP:0001595	Abnormal hair morphology	10262	SF3B4	OMIM:154400
HP:0001595	Abnormal hair morphology	4487	MSX1	OMIM:189500
HP:0001595	Abnormal hair morphology	83932	SPRTN	OMIM:616200
HP:0001595	Abnormal hair morphology	2132	EXT2	OMIM:616682
HP:0001595	Abnormal hair morphology	128178	EDARADD	OMIM:614940
HP:0001595	Abnormal hair morphology	128178	EDARADD	OMIM:614941
HP:0001595	Abnormal hair morphology	128178	EDARADD	ORPHA:1810
HP:0001595	Abnormal hair morphology	128178	EDARADD	OMIM:129490
HP:0001595	Abnormal hair morphology	128178	EDARADD	OMIM:224900
HP:0001595	Abnormal hair morphology	673	BRAF	OMIM:115150
HP:0001595	Abnormal hair morphology	673	BRAF	ORPHA:1340
HP:0001595	Abnormal hair morphology	57539	WDR35	OMIM:613610
HP:0001595	Abnormal hair morphology	57539	WDR35	ORPHA:1515
HP:0001595	Abnormal hair morphology	57539	WDR35	OMIM:614091
HP:0001595	Abnormal hair morphology	81857	MED25	OMIM:616449
HP:0001595	Abnormal hair morphology	6720	SREBF1	OMIM:158310
HP:0001595	Abnormal hair morphology	6720	SREBF1	OMIM:619016
HP:0001595	Abnormal hair morphology	162	AP1B1	OMIM:242150
HP:0001595	Abnormal hair morphology	3021	H3-3B	OMIM:619721
HP:0001595	Abnormal hair morphology	89910	UBE3B	OMIM:244450
HP:0001595	Abnormal hair morphology	3242	HPD	OMIM:140350
HP:0001595	Abnormal hair morphology	3242	HPD	ORPHA:2118
HP:0001595	Abnormal hair morphology	1161	ERCC8	OMIM:216400
HP:0001595	Abnormal hair morphology	79158	GNPTAB	OMIM:252500
HP:0001595	Abnormal hair morphology	112752	IFT43	ORPHA:1515
HP:0001595	Abnormal hair morphology	112752	IFT43	OMIM:614099
HP:0001595	Abnormal hair morphology	51098	IFT52	ORPHA:1515
HP:0001595	Abnormal hair morphology	55764	IFT122	ORPHA:1515
HP:0001595	Abnormal hair morphology	55764	IFT122	OMIM:218330
HP:0001595	Abnormal hair morphology	57728	WDR19	ORPHA:1515
HP:0001595	Abnormal hair morphology	1896	EDA	OMIM:305100
HP:0001595	Abnormal hair morphology	1896	EDA	ORPHA:181
HP:0001595	Abnormal hair morphology	6023	RMRP	ORPHA:175
HP:0001595	Abnormal hair morphology	6023	RMRP	OMIM:250250
HP:0001595	Abnormal hair morphology	54453	RIN2	OMIM:613075
HP:0001595	Abnormal hair morphology	8913	CACNA1G	OMIM:618087
HP:0001595	Abnormal hair morphology	816	CAMK2B	OMIM:617799
HP:0001595	Abnormal hair morphology	284252	KCTD1	ORPHA:2036
HP:0001595	Abnormal hair morphology	284252	KCTD1	OMIM:181270
HP:0001595	Abnormal hair morphology	340061	STING1	OMIM:615934
HP:0001595	Abnormal hair morphology	2697	GJA1	ORPHA:2710
HP:0001595	Abnormal hair morphology	2697	GJA1	OMIM:164200
HP:0001595	Abnormal hair morphology	2697	GJA1	OMIM:257850
HP:0001595	Abnormal hair morphology	2697	GJA1	OMIM:104100
HP:0001595	Abnormal hair morphology	7020	TFAP2A	OMIM:113620
HP:0001595	Abnormal hair morphology	10484	SEC23A	OMIM:607812
HP:0001595	Abnormal hair morphology	10484	SEC23A	ORPHA:50814
HP:0001595	Abnormal hair morphology	497661	C18orf32	OMIM:619985
HP:0001595	Abnormal hair morphology	8550	MAPKAPK5	OMIM:619869
HP:0001595	Abnormal hair morphology	1474	CST6	OMIM:618535
HP:0001595	Abnormal hair morphology	200734	SPRED2	OMIM:619745
HP:0001595	Abnormal hair morphology	55623	THUMPD1	OMIM:619989
HP:0001595	Abnormal hair morphology	5317	PKP1	OMIM:604536
HP:0001595	Abnormal hair morphology	5317	PKP1	ORPHA:158668
HP:0001595	Abnormal hair morphology	2706	GJB2	ORPHA:477
HP:0001595	Abnormal hair morphology	80326	WNT10A	OMIM:224750
HP:0001595	Abnormal hair morphology	80326	WNT10A	ORPHA:50944
HP:0001595	Abnormal hair morphology	23126	POGZ	OMIM:616364
HP:0001595	Abnormal hair morphology	3845	KRAS	OMIM:615278
HP:0001595	Abnormal hair morphology	3845	KRAS	ORPHA:1340
HP:0001595	Abnormal hair morphology	5605	MAP2K2	OMIM:615280
HP:0001595	Abnormal hair morphology	5605	MAP2K2	ORPHA:1340
HP:0001595	Abnormal hair morphology	4089	SMAD4	OMIM:139210
HP:0001595	Abnormal hair morphology	2934	GSN	ORPHA:85448
HP:0001595	Abnormal hair morphology	5159	PDGFRB	OMIM:601812
HP:0001595	Abnormal hair morphology	9968	MED12	OMIM:305450
HP:0001595	Abnormal hair morphology	5832	ALDH18A1	OMIM:219150
HP:0001595	Abnormal hair morphology	84919	PPP1R15B	OMIM:616817
HP:0001595	Abnormal hair morphology	84919	PPP1R15B	ORPHA:391408
HP:0001595	Abnormal hair morphology	11128	POLR3A	ORPHA:3455
HP:0001595	Abnormal hair morphology	10430	TMEM147	OMIM:620075
HP:0001595	Abnormal hair morphology	147409	DSG4	OMIM:607903
HP:0001595	Abnormal hair morphology	147409	DSG4	ORPHA:573
HP:0001595	Abnormal hair morphology	147409	DSG4	ORPHA:55654
HP:0001595	Abnormal hair morphology	84168	ANTXR1	OMIM:230740
HP:0001595	Abnormal hair morphology	6635	SNRPE	OMIM:615059
HP:0001595	Abnormal hair morphology	6635	SNRPE	ORPHA:55654
HP:0001595	Abnormal hair morphology	2146	EZH2	OMIM:277590
HP:0001595	Abnormal hair morphology	84295	PHF6	ORPHA:127
HP:0001595	Abnormal hair morphology	5631	PRPS1	OMIM:300661
HP:0001595	Abnormal hair morphology	80067	DCAF17	OMIM:241080
HP:0001595	Abnormal hair morphology	7227	TRPS1	OMIM:190350
HP:0001595	Abnormal hair morphology	7227	TRPS1	OMIM:190351
HP:0001595	Abnormal hair morphology	7227	TRPS1	ORPHA:77258
HP:0001595	Abnormal hair morphology	1828	DSG1	OMIM:615508
HP:0001595	Abnormal hair morphology	7189	TRAF6	ORPHA:1810
HP:0001595	Abnormal hair morphology	126695	KDF1	ORPHA:1810
HP:0001595	Abnormal hair morphology	10913	EDAR	ORPHA:1810
HP:0001595	Abnormal hair morphology	10913	EDAR	OMIM:129490
HP:0001595	Abnormal hair morphology	10913	EDAR	OMIM:224900
HP:0001595	Abnormal hair morphology	7051	TGM1	OMIM:242300
HP:0001595	Abnormal hair morphology	7051	TGM1	ORPHA:100976
HP:0001595	Abnormal hair morphology	7051	TGM1	ORPHA:313
HP:0001595	Abnormal hair morphology	2074	ERCC6	OMIM:133540
HP:0001595	Abnormal hair morphology	147495	APCDD1	OMIM:605389
HP:0001595	Abnormal hair morphology	147495	APCDD1	ORPHA:55654
HP:0001595	Abnormal hair morphology	57459	GATAD2B	OMIM:615074
HP:0001595	Abnormal hair morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001595	Abnormal hair morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0001595	Abnormal hair morphology	6768	ST14	ORPHA:91132
HP:0001595	Abnormal hair morphology	6768	ST14	OMIM:602400
HP:0001595	Abnormal hair morphology	2972	BRF1	ORPHA:444072
HP:0001595	Abnormal hair morphology	23030	KDM4B	OMIM:619320
HP:0001595	Abnormal hair morphology	4792	NFKBIA	OMIM:612132
HP:0001595	Abnormal hair morphology	4893	NRAS	OMIM:613224
HP:0001595	Abnormal hair morphology	1825	DSC3	OMIM:613102
HP:0001595	Abnormal hair morphology	5831	PYCR1	OMIM:614438
HP:0001595	Abnormal hair morphology	64065	PERP	OMIM:619208
HP:0001595	Abnormal hair morphology	64065	PERP	ORPHA:659
HP:0001595	Abnormal hair morphology	162514	TRPV3	ORPHA:659
HP:0001595	Abnormal hair morphology	162514	TRPV3	OMIM:614594
HP:0001595	Abnormal hair morphology	7012	TERC	OMIM:127550
HP:0001595	Abnormal hair morphology	7012	TERC	ORPHA:1775
HP:0001595	Abnormal hair morphology	16	AARS1	OMIM:619691
HP:0001595	Abnormal hair morphology	8313	AXIN2	ORPHA:401911
HP:0001595	Abnormal hair morphology	10940	POP1	OMIM:617396
HP:0001595	Abnormal hair morphology	54496	PRMT7	OMIM:617157
HP:0001595	Abnormal hair morphology	63035	BCORL1	OMIM:301029
HP:0001595	Abnormal hair morphology	10265	IRX5	OMIM:611174
HP:0001595	Abnormal hair morphology	55806	HR	OMIM:209500
HP:0001595	Abnormal hair morphology	5604	MAP2K1	ORPHA:1340
HP:0001595	Abnormal hair morphology	8517	IKBKG	OMIM:300291
HP:0001595	Abnormal hair morphology	8517	IKBKG	OMIM:308300
HP:0001595	Abnormal hair morphology	9056	SLC7A7	OMIM:222700
HP:0001595	Abnormal hair morphology	1301	COL11A1	ORPHA:560
HP:0001595	Abnormal hair morphology	3977	LIFR	OMIM:601559
HP:0001595	Abnormal hair morphology	4700	NDUFA6	OMIM:618253
HP:0001595	Abnormal hair morphology	79827	CLMP	ORPHA:2301
HP:0001595	Abnormal hair morphology	2316	FLNA	ORPHA:2301
HP:0001595	Abnormal hair morphology	151516	ASPRV1	ORPHA:313
HP:0001595	Abnormal hair morphology	242	ALOX12B	ORPHA:313
HP:0001595	Abnormal hair morphology	126410	CYP4F22	ORPHA:313
HP:0001595	Abnormal hair morphology	6820	SULT2B1	ORPHA:313
HP:0001595	Abnormal hair morphology	26154	ABCA12	ORPHA:313
HP:0001595	Abnormal hair morphology	643418	LIPN	ORPHA:313
HP:0001595	Abnormal hair morphology	59344	ALOXE3	ORPHA:313
HP:0001595	Abnormal hair morphology	348938	NIPAL4	ORPHA:313
HP:0001595	Abnormal hair morphology	121214	SDR9C7	ORPHA:313
HP:0001595	Abnormal hair morphology	64840	PORCN	OMIM:305600
HP:0001595	Abnormal hair morphology	9791	PTDSS1	OMIM:151050
HP:0001595	Abnormal hair morphology	134218	DNAJC21	OMIM:617052
HP:0001595	Abnormal hair morphology	490	ATP2B1	OMIM:619910
HP:0001595	Abnormal hair morphology	4329	ALDH6A1	OMIM:614105
HP:0001595	Abnormal hair morphology	10283	CWC27	OMIM:250410
HP:0001595	Abnormal hair morphology	4047	LSS	ORPHA:55654
HP:0001595	Abnormal hair morphology	4047	LSS	OMIM:618275
HP:0001595	Abnormal hair morphology	6144	RPL21	ORPHA:55654
HP:0001595	Abnormal hair morphology	60401	EDA2R	ORPHA:181
HP:0001595	Abnormal hair morphology	10651	MTX2	OMIM:619127
HP:0001595	Abnormal hair morphology	9702	CEP57	OMIM:614114
HP:0001595	Abnormal hair morphology	54676	GTPBP2	OMIM:617988
HP:0001595	Abnormal hair morphology	93587	TRMT10A	ORPHA:391408
HP:0001595	Abnormal hair morphology	3516	RBPJ	ORPHA:974
HP:0001595	Abnormal hair morphology	4851	NOTCH1	ORPHA:974
HP:0001595	Abnormal hair morphology	57514	ARHGAP31	ORPHA:974
HP:0001595	Abnormal hair morphology	57572	DOCK6	ORPHA:974
HP:0001595	Abnormal hair morphology	285203	EOGT	ORPHA:974
HP:0001595	Abnormal hair morphology	54567	DLL4	ORPHA:974
HP:0001595	Abnormal hair morphology	9076	CLDN1	OMIM:607626
HP:0001595	Abnormal hair morphology	7480	WNT10B	OMIM:617073
HP:0001595	Abnormal hair morphology	5295	PIK3R1	ORPHA:3163
HP:0001595	Abnormal hair morphology	10084	PQBP1	OMIM:309500
HP:0001595	Abnormal hair morphology	54888	NSUN2	OMIM:611091
HP:0001595	Abnormal hair morphology	523	ATP6V1A	ORPHA:357074
HP:0001595	Abnormal hair morphology	529	ATP6V1E1	ORPHA:357074
HP:0001595	Abnormal hair morphology	7518	XRCC4	OMIM:616541
HP:0001595	Abnormal hair morphology	5297	PI4KA	ORPHA:436252
HP:0001595	Abnormal hair morphology	57217	TTC7A	ORPHA:436252
HP:0001595	Abnormal hair morphology	5557	PRIM1	OMIM:620005
HP:0001595	Abnormal hair morphology	1788	DNMT3A	OMIM:618724
HP:0001595	Abnormal hair morphology	9757	KMT2B	OMIM:619934
HP:0001595	Abnormal hair morphology	84081	NSRP1	OMIM:620001
HP:0001595	Abnormal hair morphology	64131	XYLT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	124583	CANT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	23404	EXOSC2	OMIM:617763
HP:0001595	Abnormal hair morphology	80169	CTC1	OMIM:612199
HP:0001595	Abnormal hair morphology	80169	CTC1	ORPHA:1775
HP:0001595	Abnormal hair morphology	55651	NHP2	ORPHA:1775
HP:0001595	Abnormal hair morphology	79650	USB1	ORPHA:1775
HP:0001595	Abnormal hair morphology	55135	WRAP53	ORPHA:1775
HP:0001595	Abnormal hair morphology	4869	NPM1	ORPHA:1775
HP:0001595	Abnormal hair morphology	55505	NOP10	ORPHA:1775
HP:0001595	Abnormal hair morphology	7298	TYMS	ORPHA:1775
HP:0001595	Abnormal hair morphology	126792	B3GALT6	OMIM:615349
HP:0001595	Abnormal hair morphology	3229	HOXC13	OMIM:614931
HP:0001595	Abnormal hair morphology	25886	POC1A	OMIM:614813
HP:0001595	Abnormal hair morphology	5824	PEX19	OMIM:614886
HP:0001595	Abnormal hair morphology	7248	TSC1	OMIM:191100
HP:0001595	Abnormal hair morphology	84172	POLR1B	OMIM:618939
HP:0001595	Abnormal hair morphology	6949	TCOF1	OMIM:154500
HP:0001595	Abnormal hair morphology	80324	PUS1	OMIM:600462
HP:0001595	Abnormal hair morphology	80324	PUS1	ORPHA:2598
HP:0001595	Abnormal hair morphology	1500	CTNND1	OMIM:617681
HP:0001595	Abnormal hair morphology	1500	CTNND1	ORPHA:1997
HP:0001595	Abnormal hair morphology	2303	FOXC2	OMIM:153400
HP:0001595	Abnormal hair morphology	2303	FOXC2	ORPHA:33001
HP:0001595	Abnormal hair morphology	1748	DLX4	OMIM:616788
HP:0001595	Abnormal hair morphology	57479	PRR12	OMIM:619539
HP:0001595	Abnormal hair morphology	999	CDH1	OMIM:119580
HP:0001595	Abnormal hair morphology	999	CDH1	ORPHA:1997
HP:0001595	Abnormal hair morphology	51067	YARS2	ORPHA:2598
HP:0001595	Abnormal hair morphology	3339	HSPG2	ORPHA:800
HP:0001595	Abnormal hair morphology	2222	FDFT1	OMIM:618156
HP:0001595	Abnormal hair morphology	11107	PRDM5	ORPHA:90354
HP:0001595	Abnormal hair morphology	84627	ZNF469	ORPHA:90354
HP:0001595	Abnormal hair morphology	5626	PROP1	ORPHA:95494
HP:0001595	Abnormal hair morphology	5626	PROP1	ORPHA:90695
HP:0001595	Abnormal hair morphology	2736	GLI2	ORPHA:95494
HP:0001595	Abnormal hair morphology	89884	LHX4	ORPHA:95494
HP:0001595	Abnormal hair morphology	3170	FOXA2	ORPHA:95494
HP:0001595	Abnormal hair morphology	5449	POU1F1	ORPHA:95494
HP:0001595	Abnormal hair morphology	8820	HESX1	ORPHA:95494
HP:0001595	Abnormal hair morphology	6658	SOX3	ORPHA:90695
HP:0001595	Abnormal hair morphology	9653	HS2ST1	OMIM:619194
HP:0001595	Abnormal hair morphology	1802	DPH2	OMIM:620062
HP:0001595	Abnormal hair morphology	104	ADARB1	OMIM:618862
HP:0001595	Abnormal hair morphology	29926	GMPPA	OMIM:615510
HP:0001595	Abnormal hair morphology	3008	H1-4	OMIM:617537
HP:0001595	Abnormal hair morphology	3703	STT3A	OMIM:619714
HP:0001595	Abnormal hair morphology	79228	THOC6	ORPHA:363444
HP:0001595	Abnormal hair morphology	79228	THOC6	OMIM:613680
HP:0001595	Abnormal hair morphology	10026	PIGK	OMIM:618879
HP:0001595	Abnormal hair morphology	10525	HYOU1	OMIM:233600
HP:0001595	Abnormal hair morphology	84679	SLC9A7	OMIM:301024
HP:0001595	Abnormal hair morphology	64135	IFIH1	OMIM:182250
HP:0001595	Abnormal hair morphology	55906	ZC4H2	OMIM:314580
HP:0001595	Abnormal hair morphology	5587	PRKD1	OMIM:617364
HP:0001595	Abnormal hair morphology	4858	NOVA2	OMIM:618859
HP:0001595	Abnormal hair morphology	26057	ANKRD17	OMIM:619504
HP:0001595	Abnormal hair morphology	5184	PEPD	OMIM:170100
HP:0001595	Abnormal hair morphology	54361	WNT4	ORPHA:247768
HP:0001595	Abnormal hair morphology	129285	PPP1R21	OMIM:619383
HP:0001595	Abnormal hair morphology	1371	CPOX	ORPHA:79273
HP:0001595	Abnormal hair morphology	6913	TBX15	OMIM:260660
HP:0001595	Abnormal hair morphology	2799	GNS	OMIM:252940
HP:0001595	Abnormal hair morphology	136647	MPLKIP	OMIM:234050
HP:0001595	Abnormal hair morphology	1281	COL3A1	ORPHA:286
HP:0001595	Abnormal hair morphology	191	AHCY	ORPHA:88618
HP:0001595	Abnormal hair morphology	3887	KRT81	OMIM:158000
HP:0001595	Abnormal hair morphology	3889	KRT83	OMIM:158000
HP:0001595	Abnormal hair morphology	3892	KRT86	OMIM:158000
HP:0001595	Abnormal hair morphology	3728	JUP	ORPHA:34217
HP:0001595	Abnormal hair morphology	112802	KRT71	ORPHA:170
HP:0001595	Abnormal hair morphology	200879	LIPH	ORPHA:170
HP:0001595	Abnormal hair morphology	10161	LPAR6	ORPHA:170
HP:0001595	Abnormal hair morphology	147183	KRT25	ORPHA:170
HP:0001595	Abnormal hair morphology	1947	EFNB1	ORPHA:1520
HP:0001595	Abnormal hair morphology	284058	KANSL1	OMIM:610443
HP:0001595	Abnormal hair morphology	26227	PHGDH	ORPHA:79351
HP:0001595	Abnormal hair morphology	23545	ATP6V0A2	OMIM:219200
HP:0001595	Abnormal hair morphology	10312	TCIRG1	ORPHA:667
HP:0001595	Abnormal hair morphology	1186	CLCN7	ORPHA:667
HP:0001595	Abnormal hair morphology	29887	SNX10	ORPHA:667
HP:0001595	Abnormal hair morphology	8600	TNFSF11	ORPHA:667
HP:0001595	Abnormal hair morphology	7291	TWIST1	ORPHA:794
HP:0001595	Abnormal hair morphology	2263	FGFR2	ORPHA:794
HP:0001595	Abnormal hair morphology	2261	FGFR3	ORPHA:794
HP:0001595	Abnormal hair morphology	341640	FREM2	ORPHA:2052
HP:0001595	Abnormal hair morphology	80144	FRAS1	ORPHA:2052
HP:0001595	Abnormal hair morphology	23426	GRIP1	ORPHA:2052
HP:0001595	Abnormal hair morphology	29123	ANKRD11	ORPHA:2332
HP:0001595	Abnormal hair morphology	29123	ANKRD11	ORPHA:261250
HP:0001595	Abnormal hair morphology	158326	FREM1	ORPHA:2717
HP:0001595	Abnormal hair morphology	10225	CD96	ORPHA:1308
HP:0001595	Abnormal hair morphology	3248	HPGD	ORPHA:2796
HP:0001595	Abnormal hair morphology	6578	SLCO2A1	ORPHA:2796
HP:0001595	Abnormal hair morphology	117581	TWIST2	ORPHA:920
HP:0001595	Abnormal hair morphology	117581	TWIST2	ORPHA:1807
HP:0001595	Abnormal hair morphology	197131	UBR1	ORPHA:2315
HP:0001595	Abnormal hair morphology	6595	SMARCA2	ORPHA:3051
HP:0001595	Abnormal hair morphology	10682	EBP	ORPHA:35173
HP:0001595	Abnormal hair morphology	4010	LMX1B	ORPHA:495818
HP:0001595	Abnormal hair morphology	6812	STXBP1	ORPHA:495818
HP:0001595	Abnormal hair morphology	170302	ARX	ORPHA:2508
HP:0001595	Abnormal hair morphology	8450	CUL4B	ORPHA:85293
HP:0001595	Abnormal hair morphology	54499	TMCO1	ORPHA:1394
HP:0001595	Abnormal hair morphology	8241	RBM10	ORPHA:2886
HP:0001595	Abnormal hair morphology	7319	UBE2A	OMIM:300860
HP:0001595	Abnormal hair morphology	7319	UBE2A	ORPHA:163956
HP:0001595	Abnormal hair morphology	5518	PPP2R1A	ORPHA:457284
HP:0001595	Abnormal hair morphology	5518	PPP2R1A	OMIM:616362
HP:0001595	Abnormal hair morphology	10617	STAMBP	OMIM:614261
HP:0001595	Abnormal hair morphology	4000	LMNA	ORPHA:79474
HP:0001595	Abnormal hair morphology	7486	WRN	ORPHA:902
HP:0001595	Abnormal hair morphology	25	ABL1	OMIM:617602
HP:0001595	Abnormal hair morphology	54840	APTX	ORPHA:1168
HP:0001595	Abnormal hair morphology	84231	TRAF7	OMIM:618164
HP:0001595	Abnormal hair morphology	5898	RALA	OMIM:619311
HP:0001595	Abnormal hair morphology	253738	EBF3	OMIM:617330
HP:0001595	Abnormal hair morphology	93986	FOXP2	ORPHA:209908
HP:0001595	Abnormal hair morphology	5590	PRKCZ	ORPHA:1606
HP:0001595	Abnormal hair morphology	2563	GABRD	ORPHA:1606
HP:0001595	Abnormal hair morphology	8510	MMP23B	ORPHA:1606
HP:0001595	Abnormal hair morphology	7798	LUZP1	ORPHA:1606
HP:0001595	Abnormal hair morphology	6497	SKI	ORPHA:1606
HP:0001595	Abnormal hair morphology	10630	PDPN	ORPHA:1606
HP:0001595	Abnormal hair morphology	10277	UBE4B	ORPHA:1606
HP:0001595	Abnormal hair morphology	8514	KCNAB2	ORPHA:1606
HP:0001595	Abnormal hair morphology	63976	PRDM16	ORPHA:1606
HP:0001595	Abnormal hair morphology	54897	CASZ1	ORPHA:1606
HP:0001595	Abnormal hair morphology	80781	COL18A1	OMIM:267750
HP:0001595	Abnormal hair morphology	55027	HEATR3	OMIM:620072
HP:0001595	Abnormal hair morphology	6857	SYT1	ORPHA:522077
HP:0001595	Abnormal hair morphology	253959	RALGAPA1	OMIM:618797
HP:0001595	Abnormal hair morphology	26173	INTS1	OMIM:618571
HP:0001595	Abnormal hair morphology	83696	TRAPPC9	ORPHA:352530
HP:0001595	Abnormal hair morphology	10522	DEAF1	OMIM:615828
HP:0001595	Abnormal hair morphology	23097	CDK19	OMIM:618916
HP:0001595	Abnormal hair morphology	6868	ADAM17	ORPHA:294023
HP:0001595	Abnormal hair morphology	473	RERE	ORPHA:494344
HP:0001595	Abnormal hair morphology	473	RERE	OMIM:616975
HP:0001595	Abnormal hair morphology	8925	HERC1	ORPHA:457359
HP:0001595	Abnormal hair morphology	55621	TRMT1	OMIM:618302
HP:0001595	Abnormal hair morphology	6711	SPTBN1	OMIM:619475
HP:0001595	Abnormal hair morphology	1984	EIF5A	OMIM:619376
HP:0001595	Abnormal hair morphology	2186	BPTF	OMIM:617755
HP:0001595	Abnormal hair morphology	29920	PYCR2	ORPHA:481152
HP:0001595	Abnormal hair morphology	25942	SIN3A	ORPHA:94065
HP:0001595	Abnormal hair morphology	6651	SON	OMIM:617140
HP:0001595	Abnormal hair morphology	25871	NEPRO	OMIM:618853
HP:0001595	Abnormal hair morphology	4001	LMNB1	OMIM:619179
HP:0001595	Abnormal hair morphology	388015	RTL1	ORPHA:96334
HP:0001595	Abnormal hair morphology	8788	DLK1	ORPHA:96334
HP:0001595	Abnormal hair morphology	55384	MEG3	ORPHA:96334
HP:0001595	Abnormal hair morphology	8604	SLC25A12	OMIM:612949
HP:0001595	Abnormal hair morphology	51750	RTEL1	ORPHA:3322
HP:0001595	Abnormal hair morphology	65057	ACD	ORPHA:3322
HP:0001595	Abnormal hair morphology	5073	PARN	ORPHA:3322
HP:0001595	Abnormal hair morphology	26277	TINF2	ORPHA:3322
HP:0001595	Abnormal hair morphology	1736	DKC1	ORPHA:3322
HP:0001595	Abnormal hair morphology	7306	TYRP1	ORPHA:79433
HP:0001595	Abnormal hair morphology	617	BCS1L	OMIM:262000
HP:0001595	Abnormal hair morphology	54914	FOCAD	OMIM:619991
HP:0001595	Abnormal hair morphology	435	ASL	OMIM:207900
HP:0001595	Abnormal hair morphology	374969	SVBP	OMIM:618569
HP:0001595	Abnormal hair morphology	3872	KRT17	OMIM:167210
HP:0001595	Abnormal hair morphology	5566	PRKACA	ORPHA:289
HP:0001595	Abnormal hair morphology	5567	PRKACB	ORPHA:289
HP:0001595	Abnormal hair morphology	2735	GLI1	ORPHA:289
HP:0001595	Abnormal hair morphology	2121	EVC	ORPHA:289
HP:0001595	Abnormal hair morphology	51626	DYNC2LI1	ORPHA:289
HP:0001595	Abnormal hair morphology	132884	EVC2	ORPHA:289
HP:0001595	Abnormal hair morphology	64072	CDH23	ORPHA:91347
HP:0001595	Abnormal hair morphology	64072	CDH23	ORPHA:2965
HP:0001595	Abnormal hair morphology	4221	MEN1	ORPHA:2965
HP:0001595	Abnormal hair morphology	9049	AIP	ORPHA:2965
HP:0001595	Abnormal hair morphology	22800	RRAS2	ORPHA:648
HP:0001595	Abnormal hair morphology	8216	LZTR1	ORPHA:648
HP:0001595	Abnormal hair morphology	6016	RIT1	ORPHA:648
HP:0001595	Abnormal hair morphology	6237	RRAS	ORPHA:648
HP:0001595	Abnormal hair morphology	5894	RAF1	ORPHA:648
HP:0001595	Abnormal hair morphology	22808	MRAS	ORPHA:648
HP:0001595	Abnormal hair morphology	6654	SOS1	ORPHA:648
HP:0001595	Abnormal hair morphology	6655	SOS2	ORPHA:648
HP:0001595	Abnormal hair morphology	5781	PTPN11	ORPHA:648
HP:0001595	Abnormal hair morphology	5922	RASA2	ORPHA:648
HP:0001595	Abnormal hair morphology	5189	PEX1	ORPHA:3220
HP:0001595	Abnormal hair morphology	5190	PEX6	ORPHA:3220
HP:0001595	Abnormal hair morphology	1747	DLX3	ORPHA:3352
HP:0001595	Abnormal hair morphology	4683	NBN	ORPHA:647
HP:0001595	Abnormal hair morphology	2304	FOXE1	ORPHA:1226
HP:0001595	Abnormal hair morphology	57167	SALL4	ORPHA:233
HP:0001595	Abnormal hair morphology	9935	MAFB	ORPHA:233
HP:0001595	Abnormal hair morphology	1123	CHN1	ORPHA:233
HP:0001595	Abnormal hair morphology	6477	SIAH1	OMIM:619314
HP:0001595	Abnormal hair morphology	120766137	HRURF	OMIM:146550
HP:0001595	Abnormal hair morphology	9652	SKIC3	ORPHA:84064
HP:0001595	Abnormal hair morphology	6499	SKIC2	ORPHA:84064
HP:0001595	Abnormal hair morphology	6499	SKIC2	OMIM:614602
HP:0001595	Abnormal hair morphology	51702	PADI3	OMIM:191480
HP:0001595	Abnormal hair morphology	8626	TP63	OMIM:129400
HP:0001595	Abnormal hair morphology	7062	TCHH	OMIM:617252
HP:0001595	Abnormal hair morphology	7053	TGM3	OMIM:617251
HP:0001595	Abnormal hair morphology	1001	CDH3	OMIM:601553
HP:0001595	Abnormal hair morphology	6134	RPL10	OMIM:300998
HP:0001595	Abnormal hair morphology	7737	RNF113A	OMIM:300953
HP:0001595	Abnormal hair morphology	3265	HRAS	ORPHA:79414
HP:0001595	Abnormal hair morphology	2071	ERCC3	OMIM:616390
HP:0001595	Abnormal hair morphology	2071	ERCC3	ORPHA:33364
HP:0001595	Abnormal hair morphology	6897	TARS1	OMIM:618546
HP:0001595	Abnormal hair morphology	6897	TARS1	ORPHA:33364
HP:0001595	Abnormal hair morphology	2068	ERCC2	OMIM:601675
HP:0001595	Abnormal hair morphology	2068	ERCC2	ORPHA:33364
HP:0001595	Abnormal hair morphology	2961	GTF2E2	OMIM:616943
HP:0001595	Abnormal hair morphology	2961	GTF2E2	ORPHA:33364
HP:0001595	Abnormal hair morphology	404672	GTF2H5	OMIM:616395
HP:0001595	Abnormal hair morphology	404672	GTF2H5	ORPHA:33364
HP:0001595	Abnormal hair morphology	833	CARS1	ORPHA:33364
HP:0001595	Abnormal hair morphology	4141	MARS1	OMIM:619692
HP:0001595	Abnormal hair morphology	5934	RBL2	OMIM:619690
HP:0001595	Abnormal hair morphology	83999	KREMEN1	OMIM:617392
HP:0001595	Abnormal hair morphology	8812	CCNK	OMIM:618147
HP:0001595	Abnormal hair morphology	165	AEBP1	OMIM:618000
HP:0001595	Abnormal hair morphology	773	CACNA1A	ORPHA:2131
HP:0001595	Abnormal hair morphology	6507	SLC1A3	ORPHA:2131
HP:0001595	Abnormal hair morphology	477	ATP1A2	ORPHA:2131
HP:0001595	Abnormal hair morphology	478	ATP1A3	ORPHA:2131
HP:0001595	Abnormal hair morphology	64919	BCL11B	OMIM:618092
HP:0001595	Abnormal hair morphology	8318	CDC45	OMIM:617063
HP:0001595	Abnormal hair morphology	10157	AASS	ORPHA:2203
HP:0001595	Abnormal hair morphology	267010	RNU12	OMIM:603116
HP:0001595	Abnormal hair morphology	116931	MED12L	OMIM:618872
HP:0001595	Abnormal hair morphology	3020	H3-3A	OMIM:619720
HP:0001595	Abnormal hair morphology	57520	HECW2	OMIM:617268
HP:0001595	Abnormal hair morphology	6904	TBCD	ORPHA:496641
HP:0001595	Abnormal hair morphology	6904	TBCD	OMIM:617193
HP:0001595	Abnormal hair morphology	64324	NSD1	OMIM:117550
HP:0001595	Abnormal hair morphology	1801	DPH1	OMIM:616901
HP:0001595	Abnormal hair morphology	1801	DPH1	ORPHA:459061
HP:0001595	Abnormal hair morphology	22845	DOLK	OMIM:610768
HP:0001595	Abnormal hair morphology	9896	FIG4	ORPHA:3472
HP:0001595	Abnormal hair morphology	9896	FIG4	OMIM:216340
HP:0001595	Abnormal hair morphology	55697	VAC14	ORPHA:3472
HP:0001595	Abnormal hair morphology	55210	ATAD3A	OMIM:618810
HP:0001595	Abnormal hair morphology	9419	CRIPT	OMIM:615789
HP:0001595	Abnormal hair morphology	374393	FAM111B	OMIM:615704
HP:0001595	Abnormal hair morphology	6234	RPS28	OMIM:606164
HP:0001595	Abnormal hair morphology	11285	B4GALT7	ORPHA:75496
HP:0001595	Abnormal hair morphology	6611	SMS	ORPHA:3063
HP:0001595	Abnormal hair morphology	6611	SMS	OMIM:309583
HP:0001595	Abnormal hair morphology	3675	ITGA3	OMIM:614748
HP:0001595	Abnormal hair morphology	51611	DPH5	OMIM:620070
HP:0001595	Abnormal hair morphology	79971	WLS	OMIM:619648
HP:0001595	Abnormal hair morphology	4781	NFIB	OMIM:618286
HP:0001595	Abnormal hair morphology	4763	NF1	ORPHA:139474
HP:0001595	Abnormal hair morphology	8815	BANF1	OMIM:614008
HP:0001595	Abnormal hair morphology	51574	LARP7	ORPHA:319671
HP:0001595	Abnormal hair morphology	3720	JARID2	OMIM:620098
HP:0001595	Abnormal hair morphology	2099	ESR1	ORPHA:785
HP:0001595	Abnormal hair morphology	1041	CDSN	ORPHA:90368
HP:0001595	Abnormal hair morphology	121391	KRT74	ORPHA:90368
HP:0001595	Abnormal hair morphology	5396	PRRX1	ORPHA:990
HP:0001595	Abnormal hair morphology	5015	OTX2	ORPHA:990
HP:0001595	Abnormal hair morphology	3039	HBA1	ORPHA:98791
HP:0001595	Abnormal hair morphology	3040	HBA2	ORPHA:98791
HP:0001595	Abnormal hair morphology	5116	PCNT	ORPHA:2637
HP:0001595	Abnormal hair morphology	3981	LIG4	ORPHA:39041
HP:0001595	Abnormal hair morphology	5896	RAG1	ORPHA:39041
HP:0001595	Abnormal hair morphology	5897	RAG2	ORPHA:39041
HP:0001595	Abnormal hair morphology	64421	DCLRE1C	ORPHA:39041
HP:0001595	Abnormal hair morphology	100	ADA	ORPHA:39041
HP:0001595	Abnormal hair morphology	3575	IL7R	ORPHA:39041
HP:0001595	Abnormal hair morphology	3561	IL2RG	ORPHA:39041
HP:0001595	Abnormal hair morphology	197	AHSG	ORPHA:2850
HP:0001595	Abnormal hair morphology	3694	ITGB6	ORPHA:2850
HP:0001595	Abnormal hair morphology	2313	FLI1	ORPHA:2308
HP:0001595	Abnormal hair morphology	25839	COG4	ORPHA:263501
HP:0001595	Abnormal hair morphology	25839	COG4	OMIM:613489
HP:0001595	Abnormal hair morphology	55154	MSTO1	OMIM:617675
HP:0001595	Abnormal hair morphology	55154	MSTO1	ORPHA:502423
HP:0001595	Abnormal hair morphology	4750	NEK1	ORPHA:2751
HP:0001597	Abnormality of the nail	2767	GNA11	ORPHA:428
HP:0001597	Abnormality of the nail	846	CASR	ORPHA:428
HP:0001597	Abnormality of the nail	56983	POGLUT1	ORPHA:79145
HP:0001597	Abnormality of the nail	23509	POFUT1	ORPHA:79145
HP:0001597	Abnormality of the nail	55851	PSENEN	ORPHA:79145
HP:0001597	Abnormality of the nail	5184	PEPD	ORPHA:742
HP:0001597	Abnormality of the nail	54790	TET2	ORPHA:75564
HP:0001597	Abnormality of the nail	23451	SF3B1	ORPHA:75564
HP:0001597	Abnormality of the nail	9555	MACROH2A1	ORPHA:1275
HP:0001597	Abnormality of the nail	5307	PITX1	ORPHA:1275
HP:0001597	Abnormality of the nail	8200	GDF5	ORPHA:93384
HP:0001597	Abnormality of the nail	658	BMPR1B	ORPHA:93384
HP:0001597	Abnormality of the nail	57539	WDR35	ORPHA:1515
HP:0001597	Abnormality of the nail	112752	IFT43	ORPHA:1515
HP:0001597	Abnormality of the nail	51098	IFT52	ORPHA:1515
HP:0001597	Abnormality of the nail	284252	KCTD1	ORPHA:2036
HP:0001597	Abnormality of the nail	3857	KRT9	ORPHA:2199
HP:0001597	Abnormality of the nail	1476	CSTB	ORPHA:248
HP:0001597	Abnormality of the nail	83550	GPR101	ORPHA:963
HP:0001597	Abnormality of the nail	9049	AIP	ORPHA:963
HP:0001597	Abnormality of the nail	6578	SLCO2A1	ORPHA:2796
HP:0001597	Abnormality of the nail	1001	CDH3	OMIM:601553
HP:0001597	Abnormality of the nail	5083	PAX9	OMIM:604625
HP:0001597	Abnormality of the nail	84818	IL17RC	ORPHA:1334
HP:0001597	Abnormality of the nail	64581	CLEC7A	ORPHA:1334
HP:0001597	Abnormality of the nail	23765	IL17RA	ORPHA:1334
HP:0001597	Abnormality of the nail	10758	TRAF3IP2	ORPHA:1334
HP:0001597	Abnormality of the nail	112744	IL17F	ORPHA:1334
HP:0001597	Abnormality of the nail	5333	PLCD1	ORPHA:2387
HP:0001597	Abnormality of the nail	4853	NOTCH2	ORPHA:955
HP:0001597	Abnormality of the nail	7189	TRAF6	ORPHA:1810
HP:0001597	Abnormality of the nail	94	ACVRL1	OMIM:600376
HP:0001597	Abnormality of the nail	2022	ENG	OMIM:187300
HP:0001597	Abnormality of the nail	5573	PRKAR1A	ORPHA:950
HP:0001597	Abnormality of the nail	5144	PDE4D	ORPHA:950
HP:0001597	Abnormality of the nail	147495	APCDD1	OMIM:605389
HP:0001597	Abnormality of the nail	200879	LIPH	OMIM:604379
HP:0001597	Abnormality of the nail	23394	ADNP	ORPHA:404448
HP:0001597	Abnormality of the nail	3858	KRT10	OMIM:607602
HP:0001597	Abnormality of the nail	79574	EPS8L3	OMIM:612841
HP:0001597	Abnormality of the nail	1528	CYB5A	ORPHA:621
HP:0001597	Abnormality of the nail	1727	CYB5R3	ORPHA:621
HP:0001597	Abnormality of the nail	2517	FUCA1	ORPHA:349
HP:0001597	Abnormality of the nail	79092	CARD14	ORPHA:2897
HP:0001597	Abnormality of the nail	5728	PTEN	ORPHA:744
HP:0001597	Abnormality of the nail	207	AKT1	ORPHA:744
HP:0001597	Abnormality of the nail	197131	UBR1	OMIM:243800
HP:0001597	Abnormality of the nail	3106	HLA-B	ORPHA:29207
HP:0001597	Abnormality of the nail	5167	ENPP1	OMIM:615522
HP:0001597	Abnormality of the nail	6144	RPL21	OMIM:615885
HP:0001597	Abnormality of the nail	176	ACAN	ORPHA:171866
HP:0001597	Abnormality of the nail	147409	DSG4	ORPHA:573
HP:0001597	Abnormality of the nail	54345	SOX18	OMIM:607823
HP:0001597	Abnormality of the nail	3664	IRF6	ORPHA:1300
HP:0001597	Abnormality of the nail	11277	TREX1	OMIM:610448
HP:0001597	Abnormality of the nail	54539	NDUFB11	ORPHA:2556
HP:0001597	Abnormality of the nail	3052	HCCS	ORPHA:2556
HP:0001597	Abnormality of the nail	224	ALDH3A2	OMIM:270200
HP:0001597	Abnormality of the nail	3081	HGD	ORPHA:56
HP:0001597	Abnormality of the nail	6768	ST14	OMIM:602400
HP:0001597	Abnormality of the nail	6898	TAT	ORPHA:28378
HP:0001597	Abnormality of the nail	10682	EBP	ORPHA:35173
HP:0001597	Abnormality of the nail	7700	ZNF141	OMIM:615226
HP:0001597	Abnormality of the nail	204219	CERS3	ORPHA:79394
HP:0001597	Abnormality of the nail	26154	ABCA12	ORPHA:79394
HP:0001597	Abnormality of the nail	26154	ABCA12	ORPHA:313
HP:0001597	Abnormality of the nail	285848	PNPLA1	ORPHA:79394
HP:0001597	Abnormality of the nail	348938	NIPAL4	ORPHA:79394
HP:0001597	Abnormality of the nail	348938	NIPAL4	ORPHA:313
HP:0001597	Abnormality of the nail	51776	MAP3K20	ORPHA:488232
HP:0001597	Abnormality of the nail	2707	GJB3	ORPHA:317
HP:0001597	Abnormality of the nail	2531	KDSR	ORPHA:317
HP:0001597	Abnormality of the nail	127534	GJB4	ORPHA:317
HP:0001597	Abnormality of the nail	9333	TGM5	OMIM:609796
HP:0001597	Abnormality of the nail	151516	ASPRV1	ORPHA:313
HP:0001597	Abnormality of the nail	126410	CYP4F22	ORPHA:313
HP:0001597	Abnormality of the nail	6820	SULT2B1	ORPHA:313
HP:0001597	Abnormality of the nail	643418	LIPN	ORPHA:313
HP:0001597	Abnormality of the nail	121214	SDR9C7	ORPHA:313
HP:0001597	Abnormality of the nail	2254	FGF9	ORPHA:3237
HP:0001597	Abnormality of the nail	1896	EDA	OMIM:305100
HP:0001597	Abnormality of the nail	9488	PIGB	OMIM:618580
HP:0001597	Abnormality of the nail	10617	STAMBP	OMIM:614261
HP:0001597	Abnormality of the nail	23013	SPEN	OMIM:619312
HP:0001597	Abnormality of the nail	6477	SIAH1	OMIM:619314
HP:0001597	Abnormality of the nail	84529	CDIN1	OMIM:615631
HP:0001597	Abnormality of the nail	5894	RAF1	OMIM:611553
HP:0001597	Abnormality of the nail	84942	WDR73	OMIM:251300
HP:0001597	Abnormality of the nail	80144	FRAS1	OMIM:219000
HP:0001597	Abnormality of the nail	29072	SETD2	ORPHA:821
HP:0001597	Abnormality of the nail	10297	APC2	ORPHA:821
HP:0001597	Abnormality of the nail	55593	OTUD5	OMIM:301056
HP:0001597	Abnormality of the nail	51412	ACTL6B	OMIM:618470
HP:0001597	Abnormality of the nail	29998	BICRA	OMIM:619325
HP:0001597	Abnormality of the nail	473	RERE	OMIM:616975
HP:0001597	Abnormality of the nail	55784	MCTP2	ORPHA:1596
HP:0001597	Abnormality of the nail	999	CDH1	OMIM:119580
HP:0001597	Abnormality of the nail	150468	CKAP2L	ORPHA:3255
HP:0001597	Abnormality of the nail	55650	PIGV	OMIM:239300
HP:0001597	Abnormality of the nail	55650	PIGV	ORPHA:247262
HP:0001597	Abnormality of the nail	7102	TSPAN7	OMIM:300210
HP:0001597	Abnormality of the nail	84992	PIGY	ORPHA:247262
HP:0001597	Abnormality of the nail	93210	PGAP3	ORPHA:247262
HP:0001597	Abnormality of the nail	284098	PIGW	ORPHA:247262
HP:0001597	Abnormality of the nail	27315	PGAP2	ORPHA:247262
HP:0001597	Abnormality of the nail	9487	PIGL	ORPHA:247262
HP:0001597	Abnormality of the nail	10940	POP1	OMIM:617396
HP:0001597	Abnormality of the nail	51132	RLIM	OMIM:300978
HP:0001597	Abnormality of the nail	3549	IHH	ORPHA:63446
HP:0001597	Abnormality of the nail	50814	NSDHL	OMIM:308050
HP:0001597	Abnormality of the nail	727857	BHLHA9	OMIM:607539
HP:0001597	Abnormality of the nail	5277	PIGA	OMIM:300868
HP:0001597	Abnormality of the nail	84065	TMEM222	OMIM:619470
HP:0001597	Abnormality of the nail	8493	PPM1D	OMIM:617450
HP:0001597	Abnormality of the nail	29957	SLC25A24	OMIM:612289
HP:0001597	Abnormality of the nail	5828	PEX2	OMIM:614866
HP:0001597	Abnormality of the nail	10283	CWC27	OMIM:250410
HP:0001597	Abnormality of the nail	10283	CWC27	ORPHA:166035
HP:0001597	Abnormality of the nail	9719	ADAMTSL2	OMIM:231050
HP:0001597	Abnormality of the nail	11128	POLR3A	OMIM:264090
HP:0001597	Abnormality of the nail	7291	TWIST1	OMIM:617746
HP:0001597	Abnormality of the nail	388015	RTL1	ORPHA:96334
HP:0001597	Abnormality of the nail	8788	DLK1	ORPHA:96334
HP:0001597	Abnormality of the nail	55384	MEG3	ORPHA:96334
HP:0001597	Abnormality of the nail	2719	GPC3	ORPHA:373
HP:0001597	Abnormality of the nail	57479	PRR12	OMIM:619539
HP:0001597	Abnormality of the nail	79087	ALG12	ORPHA:79324
HP:0001597	Abnormality of the nail	10195	ALG3	OMIM:601110
HP:0001597	Abnormality of the nail	8295	TRRAP	OMIM:618454
HP:0001597	Abnormality of the nail	57647	DHX37	OMIM:618731
HP:0001597	Abnormality of the nail	25871	NEPRO	OMIM:618853
HP:0001597	Abnormality of the nail	25886	POC1A	OMIM:614813
HP:0001597	Abnormality of the nail	10075	HUWE1	OMIM:309590
HP:0001597	Abnormality of the nail	170302	ARX	OMIM:300004
HP:0001597	Abnormality of the nail	3021	H3-3B	OMIM:619721
HP:0001597	Abnormality of the nail	4998	ORC1	OMIM:224690
HP:0001597	Abnormality of the nail	1889	ECE1	OMIM:613870
HP:0001597	Abnormality of the nail	26040	SETBP1	OMIM:269150
HP:0001597	Abnormality of the nail	6925	TCF4	OMIM:610954
HP:0001597	Abnormality of the nail	72	ACTG2	ORPHA:2604
HP:0001597	Abnormality of the nail	343637	RSPO4	OMIM:206800
HP:0001597	Abnormality of the nail	5932	RBBP8	OMIM:251255
HP:0001597	Abnormality of the nail	4882	NPR2	OMIM:602875
HP:0001597	Abnormality of the nail	2317	FLNB	OMIM:150250
HP:0001597	Abnormality of the nail	2317	FLNB	ORPHA:503
HP:0001597	Abnormality of the nail	1806	DPYD	ORPHA:1675
HP:0001597	Abnormality of the nail	6662	SOX9	OMIM:114290
HP:0001597	Abnormality of the nail	126792	B3GALT6	OMIM:271640
HP:0001597	Abnormality of the nail	3981	LIG4	ORPHA:235
HP:0001597	Abnormality of the nail	54888	NSUN2	ORPHA:235
HP:0001597	Abnormality of the nail	9997	SCO2	OMIM:604377
HP:0001597	Abnormality of the nail	81607	NECTIN4	OMIM:613573
HP:0001597	Abnormality of the nail	9894	TELO2	ORPHA:488642
HP:0001597	Abnormality of the nail	6804	STX1A	ORPHA:904
HP:0001597	Abnormality of the nail	7461	CLIP2	ORPHA:904
HP:0001597	Abnormality of the nail	84277	DNAJC30	ORPHA:904
HP:0001597	Abnormality of the nail	8468	FKBP6	ORPHA:904
HP:0001597	Abnormality of the nail	5982	RFC2	ORPHA:904
HP:0001597	Abnormality of the nail	2969	GTF2I	ORPHA:904
HP:0001597	Abnormality of the nail	3984	LIMK1	ORPHA:904
HP:0001597	Abnormality of the nail	9569	GTF2IRD1	ORPHA:904
HP:0001597	Abnormality of the nail	155382	VPS37D	ORPHA:904
HP:0001597	Abnormality of the nail	155368	METTL27	ORPHA:904
HP:0001597	Abnormality of the nail	114049	BUD23	ORPHA:904
HP:0001597	Abnormality of the nail	7458	EIF4H	ORPHA:904
HP:0001597	Abnormality of the nail	84163	GTF2IRD2	ORPHA:904
HP:0001597	Abnormality of the nail	9275	BCL7B	ORPHA:904
HP:0001597	Abnormality of the nail	26608	TBL2	ORPHA:904
HP:0001597	Abnormality of the nail	653361	NCF1	ORPHA:904
HP:0001597	Abnormality of the nail	135886	TMEM270	ORPHA:904
HP:0001597	Abnormality of the nail	51085	MLXIPL	ORPHA:904
HP:0001597	Abnormality of the nail	9031	BAZ1B	ORPHA:904
HP:0001597	Abnormality of the nail	2006	ELN	ORPHA:904
HP:0001597	Abnormality of the nail	3636	INPPL1	ORPHA:3144
HP:0001597	Abnormality of the nail	23169	SLC35D1	ORPHA:3144
HP:0001597	Abnormality of the nail	85358	SHANK3	OMIM:606232
HP:0001597	Abnormality of the nail	85358	SHANK3	ORPHA:48652
HP:0001597	Abnormality of the nail	23028	KDM1A	OMIM:616728
HP:0001597	Abnormality of the nail	23028	KDM1A	ORPHA:477993
HP:0001597	Abnormality of the nail	27125	AFF4	ORPHA:444077
HP:0001597	Abnormality of the nail	9496	TBX4	ORPHA:238578
HP:0001597	Abnormality of the nail	7750	ZMYM2	OMIM:619522
HP:0001597	Abnormality of the nail	54101	RIPK4	ORPHA:1234
HP:0001597	Abnormality of the nail	4953	ODC1	ORPHA:544488
HP:0001597	Abnormality of the nail	79971	WLS	OMIM:619648
HP:0001597	Abnormality of the nail	6926	TBX3	ORPHA:3138
HP:0001597	Abnormality of the nail	79068	FTO	OMIM:612938
HP:0001597	Abnormality of the nail	7547	ZIC3	OMIM:306955
HP:0001597	Abnormality of the nail	1376	CPT2	OMIM:608836
HP:0001597	Abnormality of the nail	1984	EIF5A	OMIM:619376
HP:0001597	Abnormality of the nail	2260	FGFR1	OMIM:166250
HP:0001597	Abnormality of the nail	1801	DPH1	OMIM:616901
HP:0001597	Abnormality of the nail	1801	DPH1	ORPHA:459061
HP:0001597	Abnormality of the nail	26123	TCTN3	ORPHA:2753
HP:0001597	Abnormality of the nail	64324	NSD1	ORPHA:3447
HP:0001597	Abnormality of the nail	8726	EED	ORPHA:3447
HP:0001597	Abnormality of the nail	23512	SUZ12	ORPHA:3447
HP:0001597	Abnormality of the nail	2146	EZH2	ORPHA:3447
HP:0001597	Abnormality of the nail	5566	PRKACA	ORPHA:289
HP:0001597	Abnormality of the nail	5567	PRKACB	ORPHA:289
HP:0001597	Abnormality of the nail	2735	GLI1	ORPHA:289
HP:0001597	Abnormality of the nail	2121	EVC	ORPHA:289
HP:0001597	Abnormality of the nail	2121	EVC	ORPHA:952
HP:0001597	Abnormality of the nail	51626	DYNC2LI1	ORPHA:289
HP:0001597	Abnormality of the nail	132884	EVC2	ORPHA:289
HP:0001597	Abnormality of the nail	132884	EVC2	ORPHA:952
HP:0001597	Abnormality of the nail	8036	SHOC2	ORPHA:2701
HP:0001597	Abnormality of the nail	5500	PPP1CB	ORPHA:2701
HP:0001597	Abnormality of the nail	2239	GPC4	OMIM:301026
HP:0001597	Abnormality of the nail	613	BCR	ORPHA:261330
HP:0001597	Abnormality of the nail	1399	CRKL	ORPHA:261330
HP:0001597	Abnormality of the nail	5594	MAPK1	ORPHA:261330
HP:0001597	Abnormality of the nail	7476	WNT7A	OMIM:228930
HP:0001597	Abnormality of the nail	4038	LRP4	ORPHA:3258
HP:0001597	Abnormality of the nail	324	APC	ORPHA:3258
HP:0001597	Abnormality of the nail	51506	UFC1	OMIM:618076
HP:0001597	Abnormality of the nail	5339	PLEC	ORPHA:257
HP:0001597	Abnormality of the nail	6197	RPS6KA3	ORPHA:192
HP:0001597	Abnormality of the nail	57061	HYMAI	ORPHA:96191
HP:0001597	Abnormality of the nail	5325	PLAGL1	ORPHA:96191
HP:0001597	Abnormality of the nail	9791	PTDSS1	ORPHA:2658
HP:0001597	Abnormality of the nail	23556	PIGN	ORPHA:2059
HP:0001597	Abnormality of the nail	23556	PIGN	ORPHA:280633
HP:0001597	Abnormality of the nail	23219	FBXO28	OMIM:619777
HP:0001597	Abnormality of the nail	80152	CENPT	OMIM:618702
HP:0001597	Abnormality of the nail	84720	PIGO	OMIM:614749
HP:0001597	Abnormality of the nail	9897	WASHC5	ORPHA:7
HP:0001597	Abnormality of the nail	28952	CCDC22	ORPHA:7
HP:0001597	Abnormality of the nail	7020	TFAP2A	OMIM:113620
HP:0001597	Abnormality of the nail	6473	SHOX	ORPHA:240
HP:0001597	Abnormality of the nail	57465	TBC1D24	OMIM:220500
HP:0001597	Abnormality of the nail	117581	TWIST2	OMIM:200110
HP:0001597	Abnormality of the nail	1301	COL11A1	OMIM:228520
HP:0001597	Abnormality of the nail	1301	COL11A1	ORPHA:2021
HP:0001597	Abnormality of the nail	4920	ROR2	OMIM:113000
HP:0001597	Abnormality of the nail	3481	IGF2	ORPHA:397590
HP:0001597	Abnormality of the nail	1028	CDKN1C	ORPHA:397590
HP:0001597	Abnormality of the nail	5324	PLAG1	ORPHA:397590
HP:0001597	Abnormality of the nail	8091	HMGA2	ORPHA:397590
HP:0001597	Abnormality of the nail	2263	FGFR2	OMIM:123790
HP:0001597	Abnormality of the nail	1302	COL11A2	ORPHA:2021
HP:0001597	Abnormality of the nail	526	ATP6V1B2	ORPHA:3473
HP:0001597	Abnormality of the nail	3782	KCNN3	ORPHA:3473
HP:0001597	Abnormality of the nail	3516	RBPJ	ORPHA:974
HP:0001597	Abnormality of the nail	4851	NOTCH1	ORPHA:974
HP:0001597	Abnormality of the nail	57514	ARHGAP31	ORPHA:974
HP:0001597	Abnormality of the nail	57572	DOCK6	ORPHA:974
HP:0001597	Abnormality of the nail	285203	EOGT	ORPHA:974
HP:0001597	Abnormality of the nail	54567	DLL4	ORPHA:974
HP:0001597	Abnormality of the nail	58499	ZNF462	OMIM:618619
HP:0001597	Abnormality of the nail	168667	BMPER	OMIM:608022
HP:0001597	Abnormality of the nail	10804	GJB6	ORPHA:477
HP:0001597	Abnormality of the nail	2706	GJB2	ORPHA:477
HP:0001597	Abnormality of the nail	8323	FZD6	OMIM:161050
HP:0001597	Abnormality of the nail	1075	CTSC	OMIM:245010
HP:0001597	Abnormality of the nail	3889	KRT83	OMIM:617756
HP:0001597	Abnormality of the nail	57728	WDR19	OMIM:614378
HP:0001597	Abnormality of the nail	3691	ITGB4	OMIM:619816
HP:0001597	Abnormality of the nail	6868	ADAM17	OMIM:614328
HP:0001597	Abnormality of the nail	6868	ADAM17	ORPHA:294023
HP:0001597	Abnormality of the nail	3248	HPGD	ORPHA:217059
HP:0001597	Abnormality of the nail	3868	KRT16	OMIM:167200
HP:0001597	Abnormality of the nail	4014	LORICRIN	ORPHA:79395
HP:0001597	Abnormality of the nail	8517	IKBKG	OMIM:308300
HP:0001597	Abnormality of the nail	8626	TP63	OMIM:129400
HP:0001597	Abnormality of the nail	57688	ZSWIM6	OMIM:603671
HP:0001597	Abnormality of the nail	1956	EGFR	ORPHA:294023
HP:0001597	Abnormality of the nail	64135	IFIH1	OMIM:182250
HP:0001597	Abnormality of the nail	3728	JUP	OMIM:601214
HP:0001597	Abnormality of the nail	831	CAST	OMIM:616295
HP:0001597	Abnormality of the nail	3107	HLA-C	OMIM:177900
HP:0001597	Abnormality of the nail	7389	UROD	OMIM:176100
HP:0001597	Abnormality of the nail	3077	HFE	OMIM:176100
HP:0001597	Abnormality of the nail	3675	ITGA3	OMIM:614748
HP:0001597	Abnormality of the nail	121391	KRT74	OMIM:614929
HP:0001597	Abnormality of the nail	3891	KRT85	OMIM:602032
HP:0001597	Abnormality of the nail	1041	CDSN	OMIM:270300
HP:0001597	Abnormality of the nail	1828	DSG1	OMIM:148700
HP:0001597	Abnormality of the nail	64840	PORCN	OMIM:305600
HP:0001597	Abnormality of the nail	80326	WNT10A	OMIM:224750
HP:0001597	Abnormality of the nail	80326	WNT10A	OMIM:257980
HP:0001597	Abnormality of the nail	1513	CTSK	OMIM:265800
HP:0001597	Abnormality of the nail	1513	CTSK	ORPHA:763
HP:0001597	Abnormality of the nail	8456	FOXN1	OMIM:601705
HP:0001597	Abnormality of the nail	8456	FOXN1	ORPHA:169095
HP:0001597	Abnormality of the nail	545	ATR	OMIM:614564
HP:0001597	Abnormality of the nail	128178	EDARADD	OMIM:129490
HP:0001597	Abnormality of the nail	10913	EDAR	OMIM:129490
HP:0001597	Abnormality of the nail	4010	LMX1B	OMIM:161200
HP:0001597	Abnormality of the nail	55630	SLC39A4	ORPHA:37
HP:0001597	Abnormality of the nail	488	ATP2A2	OMIM:101900
HP:0001597	Abnormality of the nail	488	ATP2A2	OMIM:124200
HP:0001597	Abnormality of the nail	55612	FERMT1	OMIM:173650
HP:0001597	Abnormality of the nail	10161	LPAR6	OMIM:278150
HP:0001597	Abnormality of the nail	26277	TINF2	OMIM:127550
HP:0001597	Abnormality of the nail	7012	TERC	OMIM:127550
HP:0001597	Abnormality of the nail	7015	TERT	OMIM:127550
HP:0001597	Abnormality of the nail	818	CAMK2G	OMIM:618522
HP:0001597	Abnormality of the nail	3914	LAMB3	OMIM:226650
HP:0001597	Abnormality of the nail	6603	SMARCD2	OMIM:617475
HP:0001597	Abnormality of the nail	57152	SLURP1	OMIM:248300
HP:0001597	Abnormality of the nail	3861	KRT14	OMIM:161000
HP:0001597	Abnormality of the nail	3861	KRT14	ORPHA:69087
HP:0001597	Abnormality of the nail	23309	SIN3B	ORPHA:500166
HP:0001597	Abnormality of the nail	25942	SIN3A	ORPHA:500166
HP:0001597	Abnormality of the nail	25942	SIN3A	OMIM:613406
HP:0001597	Abnormality of the nail	1747	DLX3	OMIM:190320
HP:0001597	Abnormality of the nail	1747	DLX3	ORPHA:3352
HP:0001597	Abnormality of the nail	1294	COL7A1	ORPHA:158676
HP:0001597	Abnormality of the nail	162	AP1B1	OMIM:242150
HP:0001597	Abnormality of the nail	2512	FTL	ORPHA:254704
HP:0001597	Abnormality of the nail	341208	HEPHL1	OMIM:261990
HP:0001597	Abnormality of the nail	5587	PRKD1	OMIM:617364
HP:0001597	Abnormality of the nail	23545	ATP6V0A2	OMIM:278250
HP:0001597	Abnormality of the nail	1832	DSP	OMIM:615821
HP:0001597	Abnormality of the nail	3265	HRAS	OMIM:218040
HP:0001597	Abnormality of the nail	4000	LMNA	ORPHA:79474
HP:0001597	Abnormality of the nail	2697	GJA1	OMIM:164200
HP:0001597	Abnormality of the nail	7227	TRPS1	ORPHA:77258
HP:0001597	Abnormality of the nail	1947	EFNB1	OMIM:304110
HP:0001597	Abnormality of the nail	404672	GTF2H5	ORPHA:33364
HP:0001597	Abnormality of the nail	833	CARS1	ORPHA:33364
HP:0001597	Abnormality of the nail	2068	ERCC2	ORPHA:33364
HP:0001597	Abnormality of the nail	7737	RNF113A	ORPHA:33364
HP:0001597	Abnormality of the nail	136647	MPLKIP	ORPHA:33364
HP:0001597	Abnormality of the nail	6897	TARS1	ORPHA:33364
HP:0001597	Abnormality of the nail	2071	ERCC3	ORPHA:33364
HP:0001597	Abnormality of the nail	2961	GTF2E2	ORPHA:33364
HP:0001597	Abnormality of the nail	1736	DKC1	OMIM:305000
HP:0001597	Abnormality of the nail	7879	RAB7A	OMIM:600882
HP:0001597	Abnormality of the nail	64065	PERP	OMIM:619209
HP:0001597	Abnormality of the nail	860	RUNX2	ORPHA:1452
HP:0001597	Abnormality of the nail	53834	FGFRL1	OMIM:194190
HP:0001597	Abnormality of the nail	1487	CTBP1	OMIM:194190
HP:0001597	Abnormality of the nail	3954	LETM1	OMIM:194190
HP:0001597	Abnormality of the nail	7468	NSD2	OMIM:194190
HP:0001597	Abnormality of the nail	10815	CPLX1	OMIM:194190
HP:0001597	Abnormality of the nail	242	ALOX12B	OMIM:242100
HP:0001597	Abnormality of the nail	59344	ALOXE3	OMIM:242100
HP:0001597	Abnormality of the nail	816	CAMK2B	OMIM:617799
HP:0001597	Abnormality of the nail	64682	ANAPC1	OMIM:618625
HP:0001597	Abnormality of the nail	55764	IFT122	OMIM:218330
HP:0001597	Abnormality of the nail	9896	FIG4	OMIM:216340
HP:0001597	Abnormality of the nail	9241	NOG	ORPHA:140908
HP:0001597	Abnormality of the nail	6774	STAT3	ORPHA:2314
HP:0001597	Abnormality of the nail	3909	LAMA3	ORPHA:79404
HP:0001597	Abnormality of the nail	3918	LAMC2	ORPHA:79404
HP:0001597	Abnormality of the nail	641	BLM	ORPHA:125
HP:0001597	Abnormality of the nail	54463	RETREG1	OMIM:201300
HP:0001597	Abnormality of the nail	65125	WNK1	OMIM:201300
HP:0001597	Abnormality of the nail	6335	SCN9A	OMIM:201300
HP:0001597	Abnormality of the nail	547	KIF1A	OMIM:201300
HP:0001597	Abnormality of the nail	3872	KRT17	ORPHA:2309
HP:0001597	Abnormality of the nail	3853	KRT6A	ORPHA:2309
HP:0001597	Abnormality of the nail	3854	KRT6B	ORPHA:2309
HP:0001597	Abnormality of the nail	1053	CEBPE	OMIM:260570
HP:0001597	Abnormality of the nail	25959	KANK2	OMIM:616099
HP:0001597	Abnormality of the nail	1825	DSC3	OMIM:613102
HP:0001597	Abnormality of the nail	2273	FHL1	OMIM:300280
HP:0001597	Abnormality of the nail	50964	SOST	OMIM:269500
HP:0001597	Abnormality of the nail	2737	GLI3	ORPHA:672
HP:0001597	Abnormality of the nail	2737	GLI3	OMIM:146510
HP:0001597	Abnormality of the nail	2132	EXT2	OMIM:616682
HP:0001597	Abnormality of the nail	55733	HHAT	OMIM:600092
HP:0001597	Abnormality of the nail	6812	STXBP1	ORPHA:495818
HP:0001597	Abnormality of the nail	123041	SLC24A4	OMIM:615887
HP:0001597	Abnormality of the nail	6786	STIM1	OMIM:612783
HP:0001597	Abnormality of the nail	1500	CTNND1	OMIM:617681
HP:0001597	Abnormality of the nail	8985	PLOD3	OMIM:612394
HP:0001597	Abnormality of the nail	23314	SATB2	OMIM:612313
HP:0001597	Abnormality of the nail	374393	FAM111B	OMIM:615704
HP:0001597	Abnormality of the nail	2261	FGFR3	ORPHA:2363
HP:0001597	Abnormality of the nail	2255	FGF10	ORPHA:2363
HP:0001597	Abnormality of the nail	5264	PHYH	ORPHA:773
HP:0001597	Abnormality of the nail	5191	PEX7	ORPHA:773
HP:0001597	Abnormality of the nail	8813	DPM1	OMIM:608799
HP:0001597	Abnormality of the nail	8813	DPM1	ORPHA:79322
HP:0001597	Abnormality of the nail	652	BMP4	ORPHA:139471
HP:0001597	Abnormality of the nail	84168	ANTXR1	OMIM:230740
HP:0001597	Abnormality of the nail	6736	SRY	ORPHA:1772
HP:0001597	Abnormality of the nail	11342	RNF13	ORPHA:544503
HP:0001597	Abnormality of the nail	55697	VAC14	ORPHA:3472
HP:0001597	Abnormality of the nail	90416	CCDC32	OMIM:619123
HP:0001597	Abnormality of the nail	22930	RAB3GAP1	ORPHA:1387
HP:0001597	Abnormality of the nail	25782	RAB3GAP2	ORPHA:1387
HP:0001597	Abnormality of the nail	25782	RAB3GAP2	OMIM:212720
HP:0001597	Abnormality of the nail	7372	UMPS	ORPHA:30
HP:0001597	Abnormality of the nail	5604	MAP2K1	ORPHA:1340
HP:0001597	Abnormality of the nail	5605	MAP2K2	ORPHA:1340
HP:0001597	Abnormality of the nail	3845	KRAS	ORPHA:1340
HP:0001597	Abnormality of the nail	673	BRAF	ORPHA:1340
HP:0001597	Abnormality of the nail	26137	ZBTB20	OMIM:259050
HP:0001597	Abnormality of the nail	54800	KLHL24	OMIM:617294
HP:0001597	Abnormality of the nail	1857	DVL3	ORPHA:3107
HP:0001597	Abnormality of the nail	7474	WNT5A	ORPHA:3107
HP:0001597	Abnormality of the nail	1855	DVL1	ORPHA:3107
HP:0001597	Abnormality of the nail	2535	FZD2	ORPHA:3107
HP:0001597	Abnormality of the nail	7051	TGM1	OMIM:242300
HP:0001597	Abnormality of the nail	7051	TGM1	ORPHA:100976
HP:0001597	Abnormality of the nail	51750	RTEL1	OMIM:615190
HP:0001597	Abnormality of the nail	51750	RTEL1	ORPHA:3322
HP:0001597	Abnormality of the nail	51750	RTEL1	ORPHA:1775
HP:0001597	Abnormality of the nail	19	ABCA1	OMIM:205400
HP:0001597	Abnormality of the nail	19	ABCA1	ORPHA:31150
HP:0001597	Abnormality of the nail	56916	SMARCAD1	OMIM:129200
HP:0001597	Abnormality of the nail	56916	SMARCAD1	OMIM:181600
HP:0001597	Abnormality of the nail	79650	USB1	OMIM:604173
HP:0001597	Abnormality of the nail	79650	USB1	ORPHA:1775
HP:0001597	Abnormality of the nail	3655	ITGA6	ORPHA:79403
HP:0001597	Abnormality of the nail	9401	RECQL4	OMIM:268400
HP:0001597	Abnormality of the nail	6720	SREBF1	OMIM:158310
HP:0001597	Abnormality of the nail	6720	SREBF1	OMIM:619016
HP:0001597	Abnormality of the nail	1308	COL17A1	ORPHA:79406
HP:0001597	Abnormality of the nail	1308	COL17A1	ORPHA:79402
HP:0001597	Abnormality of the nail	1308	COL17A1	OMIM:619787
HP:0001597	Abnormality of the nail	1308	COL17A1	ORPHA:251393
HP:0001597	Abnormality of the nail	4312	MMP1	ORPHA:79408
HP:0001597	Abnormality of the nail	4312	MMP1	OMIM:226600
HP:0001597	Abnormality of the nail	1349	COX7B	OMIM:300887
HP:0001597	Abnormality of the nail	4598	MVK	OMIM:175900
HP:0001597	Abnormality of the nail	55651	NHP2	OMIM:613987
HP:0001597	Abnormality of the nail	55651	NHP2	OMIM:224230
HP:0001597	Abnormality of the nail	55651	NHP2	ORPHA:1775
HP:0001597	Abnormality of the nail	10084	PQBP1	ORPHA:93947
HP:0001597	Abnormality of the nail	5818	NECTIN1	ORPHA:3253
HP:0001597	Abnormality of the nail	55135	WRAP53	OMIM:613988
HP:0001597	Abnormality of the nail	55135	WRAP53	ORPHA:1775
HP:0001597	Abnormality of the nail	10269	ZMPSTE24	ORPHA:90154
HP:0001597	Abnormality of the nail	977	CD151	OMIM:609057
HP:0001597	Abnormality of the nail	7298	TYMS	OMIM:620040
HP:0001597	Abnormality of the nail	7298	TYMS	ORPHA:1775
HP:0001597	Abnormality of the nail	56992	KIF15	ORPHA:261323
HP:0001597	Abnormality of the nail	4141	MARS1	OMIM:619692
HP:0001597	Abnormality of the nail	130340	AP1S3	OMIM:616106
HP:0001597	Abnormality of the nail	10616	RBCK1	OMIM:615895
HP:0001597	Abnormality of the nail	26525	IL36RN	OMIM:614204
HP:0001597	Abnormality of the nail	284654	RSPO1	OMIM:610644
HP:0001597	Abnormality of the nail	3848	KRT1	ORPHA:79503
HP:0001597	Abnormality of the nail	1475	CSTA	OMIM:607936
HP:0001597	Abnormality of the nail	51371	POMP	OMIM:601952
HP:0001597	Abnormality of the nail	7319	UBE2A	OMIM:300860
HP:0001597	Abnormality of the nail	7319	UBE2A	ORPHA:163956
HP:0001597	Abnormality of the nail	7286	TUFT1	OMIM:607655
HP:0001597	Abnormality of the nail	23328	SASH1	OMIM:618373
HP:0001597	Abnormality of the nail	5073	PARN	OMIM:616353
HP:0001597	Abnormality of the nail	5073	PARN	ORPHA:3322
HP:0001597	Abnormality of the nail	5073	PARN	ORPHA:1775
HP:0001597	Abnormality of the nail	4914	NTRK1	OMIM:256800
HP:0001597	Abnormality of the nail	667	DST	OMIM:615425
HP:0001597	Abnormality of the nail	5317	PKP1	OMIM:604536
HP:0001597	Abnormality of the nail	5317	PKP1	ORPHA:158668
HP:0001597	Abnormality of the nail	3887	KRT81	OMIM:158000
HP:0001597	Abnormality of the nail	3892	KRT86	OMIM:158000
HP:0001597	Abnormality of the nail	134218	DNAJC21	OMIM:617052
HP:0001597	Abnormality of the nail	54914	FOCAD	OMIM:619991
HP:0001597	Abnormality of the nail	55505	NOP10	OMIM:224230
HP:0001597	Abnormality of the nail	55505	NOP10	ORPHA:1775
HP:0001597	Abnormality of the nail	126695	KDF1	OMIM:617337
HP:0001597	Abnormality of the nail	8085	KMT2D	OMIM:620186
HP:0001597	Abnormality of the nail	7373	COL14A1	ORPHA:79501
HP:0001597	Abnormality of the nail	79719	AAGAB	ORPHA:79501
HP:0001597	Abnormality of the nail	2934	GSN	ORPHA:85448
HP:0001597	Abnormality of the nail	10651	MTX2	OMIM:619127
HP:0001597	Abnormality of the nail	162514	TRPV3	OMIM:614594
HP:0001597	Abnormality of the nail	6117	RPA1	OMIM:619767
HP:0001597	Abnormality of the nail	51062	ATL1	OMIM:613708
HP:0001597	Abnormality of the nail	4094	MAF	OMIM:601088
HP:0001597	Abnormality of the nail	1493	CTLA4	ORPHA:3162
HP:0001597	Abnormality of the nail	940	CD28	ORPHA:3162
HP:0001597	Abnormality of the nail	7133	TNFRSF1B	ORPHA:3162
HP:0001597	Abnormality of the nail	326	AIRE	OMIM:240300
HP:0001597	Abnormality of the nail	7157	TP53	OMIM:618165
HP:0001597	Abnormality of the nail	79977	GRHL2	OMIM:616029
HP:0001597	Abnormality of the nail	50943	FOXP3	ORPHA:37042
HP:0001597	Abnormality of the nail	8815	BANF1	OMIM:614008
HP:0001597	Abnormality of the nail	5297	PI4KA	ORPHA:436252
HP:0001597	Abnormality of the nail	57217	TTC7A	ORPHA:436252
HP:0001597	Abnormality of the nail	65057	ACD	ORPHA:3322
HP:0001597	Abnormality of the nail	65057	ACD	OMIM:616553
HP:0001597	Abnormality of the nail	22861	NLRP1	OMIM:615225
HP:0001597	Abnormality of the nail	80169	CTC1	OMIM:612199
HP:0001597	Abnormality of the nail	80169	CTC1	ORPHA:1775
HP:0001597	Abnormality of the nail	4869	NPM1	ORPHA:1775
HP:0001597	Abnormality of the nail	2316	FLNA	OMIM:311300
HP:0001597	Abnormality of the nail	3229	HOXC13	OMIM:614931
HP:0001597	Abnormality of the nail	64858	DCLRE1B	OMIM:620133
HP:0001597	Abnormality of the nail	6595	SMARCA2	OMIM:619293
HP:0001597	Abnormality of the nail	2303	FOXC2	OMIM:153400
HP:0001597	Abnormality of the nail	6597	SMARCA4	ORPHA:1465
HP:0001597	Abnormality of the nail	6598	SMARCB1	ORPHA:1465
HP:0001597	Abnormality of the nail	6659	SOX4	ORPHA:1465
HP:0001597	Abnormality of the nail	8289	ARID1A	ORPHA:1465
HP:0001597	Abnormality of the nail	5977	DPF2	ORPHA:1465
HP:0001597	Abnormality of the nail	5977	DPF2	OMIM:618027
HP:0001597	Abnormality of the nail	6601	SMARCC2	ORPHA:1465
HP:0001597	Abnormality of the nail	6602	SMARCD1	ORPHA:1465
HP:0001597	Abnormality of the nail	57492	ARID1B	ORPHA:1465
HP:0001597	Abnormality of the nail	196528	ARID2	ORPHA:1465
HP:0001597	Abnormality of the nail	6605	SMARCE1	ORPHA:1465
HP:0001597	Abnormality of the nail	6664	SOX11	ORPHA:1465
HP:0001597	Abnormality of the nail	6664	SOX11	OMIM:615866
HP:0001597	Abnormality of the nail	6418	SET	OMIM:618106
HP:0001597	Abnormality of the nail	5528	PPP2R5D	ORPHA:457279
HP:0001597	Abnormality of the nail	3209	HOXA13	ORPHA:2438
HP:0001597	Abnormality of the nail	3852	KRT5	OMIM:131960
HP:0001597	Abnormality of the nail	3643	INSR	OMIM:262190
HP:0001597	Abnormality of the nail	3643	INSR	ORPHA:769
HP:0001597	Abnormality of the nail	5281	PIGF	OMIM:619356
HP:0001597	Abnormality of the nail	3756	KCNH1	ORPHA:420561
HP:0001597	Abnormality of the nail	3756	KCNH1	OMIM:611816
HP:0001597	Abnormality of the nail	6792	CDKL5	ORPHA:1934
HP:0001597	Abnormality of the nail	3736	KCNA1	ORPHA:1934
HP:0001597	Abnormality of the nail	9091	PIGQ	ORPHA:1934
HP:0001597	Abnormality of the nail	2775	GNAO1	ORPHA:1934
HP:0001597	Abnormality of the nail	81603	TRIM8	ORPHA:1934
HP:0001597	Abnormality of the nail	2902	GRIN1	ORPHA:1934
HP:0001597	Abnormality of the nail	79751	SLC25A22	ORPHA:1934
HP:0001597	Abnormality of the nail	150094	SIK1	ORPHA:1934
HP:0001597	Abnormality of the nail	8573	CASK	ORPHA:1934
HP:0001597	Abnormality of the nail	23312	DMXL2	ORPHA:1934
HP:0001597	Abnormality of the nail	2917	GRM7	ORPHA:1934
HP:0001597	Abnormality of the nail	11284	PNKP	ORPHA:1934
HP:0001597	Abnormality of the nail	6326	SCN2A	ORPHA:1934
HP:0001597	Abnormality of the nail	51227	PIGP	ORPHA:1934
HP:0001597	Abnormality of the nail	6324	SCN1B	ORPHA:1934
HP:0001597	Abnormality of the nail	4761	NEUROD2	ORPHA:1934
HP:0001597	Abnormality of the nail	51360	MBTPS2	ORPHA:2273
HP:0001597	Abnormality of the nail	4487	MSX1	ORPHA:2228
HP:0001597	Abnormality of the nail	284	ANGPT1	OMIM:619361
HP:0001597	Abnormality of the nail	26509	MYOF	OMIM:619366
HP:0001597	Abnormality of the nail	2324	FLT4	OMIM:153100
HP:0001597	Abnormality of the nail	340061	STING1	OMIM:615934
HP:0001597	Abnormality of the nail	5189	PEX1	ORPHA:3220
HP:0001597	Abnormality of the nail	5190	PEX6	ORPHA:3220
HP:0001597	Abnormality of the nail	100151683	RNU4ATAC	ORPHA:1824
HP:0001597	Abnormality of the nail	3832	KIF11	ORPHA:2526
HP:0001597	Abnormality of the nail	6794	STK11	ORPHA:2869
HP:0001597	Abnormality of the nail	6872	TAF1	OMIM:300966
HP:0001597	Abnormality of the nail	650	BMP2	OMIM:617877
HP:0001597	Abnormality of the nail	57165	GJC2	ORPHA:79452
HP:0001597	Abnormality of the nail	7424	VEGFC	OMIM:615907
HP:0001597	Abnormality of the nail	3590	IL11RA	OMIM:614188
HP:0001597	Abnormality of the nail	64359	NXN	ORPHA:1507
HP:0001597	Abnormality of the nail	4791	NFKB2	ORPHA:293978
HP:0001597	Abnormality of the nail	3458	IFNG	ORPHA:805
HP:0001597	Abnormality of the nail	7248	TSC1	ORPHA:805
HP:0001597	Abnormality of the nail	7248	TSC1	ORPHA:538
HP:0001597	Abnormality of the nail	7249	TSC2	ORPHA:805
HP:0001597	Abnormality of the nail	7249	TSC2	ORPHA:538
HP:0001598	Concave nail	3265	HRAS	ORPHA:3071
HP:0001598	Concave nail	3265	HRAS	OMIM:218040
HP:0001598	Concave nail	4010	LMX1B	OMIM:161200
HP:0001598	Concave nail	136647	MPLKIP	OMIM:234050
HP:0001598	Concave nail	136647	MPLKIP	ORPHA:33364
HP:0001598	Concave nail	4487	MSX1	OMIM:189500
HP:0001598	Concave nail	1896	EDA	OMIM:305100
HP:0001598	Concave nail	51132	RLIM	OMIM:300978
HP:0001598	Concave nail	3848	KRT1	ORPHA:530838
HP:0001598	Concave nail	5333	PLCD1	OMIM:151600
HP:0001598	Concave nail	7227	TRPS1	OMIM:190350
HP:0001598	Concave nail	3229	HOXC13	OMIM:614931
HP:0001598	Concave nail	404672	GTF2H5	ORPHA:33364
HP:0001598	Concave nail	833	CARS1	ORPHA:33364
HP:0001598	Concave nail	2068	ERCC2	ORPHA:33364
HP:0001598	Concave nail	7737	RNF113A	ORPHA:33364
HP:0001598	Concave nail	6897	TARS1	ORPHA:33364
HP:0001598	Concave nail	2071	ERCC3	ORPHA:33364
HP:0001598	Concave nail	2961	GTF2E2	ORPHA:33364
HP:0007495	Prematurely aged appearance	128178	EDARADD	OMIM:224900
HP:0007495	Prematurely aged appearance	128178	EDARADD	OMIM:614941
HP:0007495	Prematurely aged appearance	10913	EDAR	OMIM:224900
HP:0007495	Prematurely aged appearance	1009	CDH11	ORPHA:1299
HP:0007495	Prematurely aged appearance	1896	EDA	OMIM:305100
HP:0007495	Prematurely aged appearance	83932	SPRTN	OMIM:616200
HP:0007495	Prematurely aged appearance	7012	TERC	OMIM:614743
HP:0007495	Prematurely aged appearance	7012	TERC	OMIM:127550
HP:0007495	Prematurely aged appearance	7012	TERC	ORPHA:1775
HP:0007495	Prematurely aged appearance	9401	RECQL4	OMIM:268400
HP:0007495	Prematurely aged appearance	4644	MYO5A	ORPHA:33445
HP:0007495	Prematurely aged appearance	4644	MYO5A	ORPHA:79476
HP:0007495	Prematurely aged appearance	79991	STN1	OMIM:617341
HP:0007495	Prematurely aged appearance	374879	ZNF699	OMIM:619488
HP:0007495	Prematurely aged appearance	4286	MITF	OMIM:193510
HP:0007495	Prematurely aged appearance	4286	MITF	ORPHA:897
HP:0007495	Prematurely aged appearance	4286	MITF	ORPHA:895
HP:0007495	Prematurely aged appearance	6663	SOX10	OMIM:613266
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:897
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:895
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:163746
HP:0007495	Prematurely aged appearance	6663	SOX10	OMIM:611584
HP:0007495	Prematurely aged appearance	1908	EDN3	OMIM:613265
HP:0007495	Prematurely aged appearance	1908	EDN3	ORPHA:897
HP:0007495	Prematurely aged appearance	6117	RPA1	OMIM:619767
HP:0007495	Prematurely aged appearance	1910	EDNRB	OMIM:277580
HP:0007495	Prematurely aged appearance	1910	EDNRB	ORPHA:897
HP:0007495	Prematurely aged appearance	1910	EDNRB	ORPHA:895
HP:0007495	Prematurely aged appearance	7299	TYR	ORPHA:895
HP:0007495	Prematurely aged appearance	6591	SNAI2	ORPHA:895
HP:0007495	Prematurely aged appearance	4254	KITLG	ORPHA:895
HP:0007495	Prematurely aged appearance	4254	KITLG	OMIM:619947
HP:0007495	Prematurely aged appearance	5077	PAX3	ORPHA:894
HP:0007495	Prematurely aged appearance	5077	PAX3	OMIM:193500
HP:0007495	Prematurely aged appearance	5077	PAX3	OMIM:148820
HP:0007495	Prematurely aged appearance	4193	MDM2	OMIM:618681
HP:0007495	Prematurely aged appearance	79184	BRCC3	ORPHA:280679
HP:0007495	Prematurely aged appearance	3643	INSR	ORPHA:769
HP:0007495	Prematurely aged appearance	7020	TFAP2A	OMIM:113620
HP:0007495	Prematurely aged appearance	7020	TFAP2A	ORPHA:1297
HP:0007495	Prematurely aged appearance	4507	MTAP	OMIM:112250
HP:0007495	Prematurely aged appearance	80169	CTC1	OMIM:612199
HP:0007495	Prematurely aged appearance	80169	CTC1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55651	NHP2	ORPHA:1775
HP:0007495	Prematurely aged appearance	79650	USB1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55135	WRAP53	ORPHA:1775
HP:0007495	Prematurely aged appearance	4869	NPM1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55505	NOP10	ORPHA:1775
HP:0007495	Prematurely aged appearance	7298	TYMS	ORPHA:1775
HP:0007495	Prematurely aged appearance	355	FAS	ORPHA:3437
HP:0007495	Prematurely aged appearance	26191	PTPN22	ORPHA:3437
HP:0007495	Prematurely aged appearance	8884	SLC5A6	OMIM:619903
HP:0007495	Prematurely aged appearance	5696	PSMB8	OMIM:256040
HP:0007495	Prematurely aged appearance	5873	RAB27A	ORPHA:79477
HP:0007495	Prematurely aged appearance	25778	DSTYK	OMIM:270750
HP:0007495	Prematurely aged appearance	11285	B4GALT7	ORPHA:75496
HP:0007495	Prematurely aged appearance	10804	GJB6	ORPHA:477
HP:0007495	Prematurely aged appearance	2706	GJB2	ORPHA:477
HP:0007495	Prematurely aged appearance	8425	LTBP4	OMIM:613177
HP:0007495	Prematurely aged appearance	10273	STUB1	ORPHA:412057
HP:0007495	Prematurely aged appearance	8815	BANF1	OMIM:614008
HP:0007495	Prematurely aged appearance	84823	LMNB2	ORPHA:79087
HP:0007495	Prematurely aged appearance	5111	PCNA	OMIM:615919
HP:0007495	Prematurely aged appearance	2067	ERCC1	ORPHA:90322
HP:0007495	Prematurely aged appearance	25839	COG4	OMIM:618150
HP:0007495	Prematurely aged appearance	23404	EXOSC2	OMIM:617763
HP:0007495	Prematurely aged appearance	2200	FBN1	OMIM:616914
HP:0007495	Prematurely aged appearance	91949	COG7	OMIM:608779
HP:0007495	Prematurely aged appearance	91949	COG7	ORPHA:79333
HP:0007495	Prematurely aged appearance	1281	COL3A1	ORPHA:286
HP:0007495	Prematurely aged appearance	1281	COL3A1	ORPHA:2500
HP:0007495	Prematurely aged appearance	8367	H4C5	OMIM:619950
HP:0007495	Prematurely aged appearance	523	ATP6V1A	ORPHA:357074
HP:0007495	Prematurely aged appearance	529	ATP6V1E1	ORPHA:357074
HP:0007495	Prematurely aged appearance	5831	PYCR1	OMIM:612940
HP:0007495	Prematurely aged appearance	5831	PYCR1	OMIM:614438
HP:0007495	Prematurely aged appearance	5604	MAP2K1	ORPHA:1340
HP:0007495	Prematurely aged appearance	5605	MAP2K2	ORPHA:1340
HP:0007495	Prematurely aged appearance	3845	KRAS	ORPHA:1340
HP:0007495	Prematurely aged appearance	673	BRAF	ORPHA:1340
HP:0007495	Prematurely aged appearance	673	BRAF	ORPHA:500
HP:0007495	Prematurely aged appearance	5167	ENPP1	ORPHA:758
HP:0007495	Prematurely aged appearance	368	ABCC6	ORPHA:758
HP:0007495	Prematurely aged appearance	9719	ADAMTSL2	ORPHA:1901
HP:0007495	Prematurely aged appearance	9509	ADAMTS2	ORPHA:1901
HP:0007495	Prematurely aged appearance	51750	RTEL1	ORPHA:3322
HP:0007495	Prematurely aged appearance	65057	ACD	ORPHA:3322
HP:0007495	Prematurely aged appearance	5073	PARN	ORPHA:3322
HP:0007495	Prematurely aged appearance	7015	TERT	ORPHA:3322
HP:0007495	Prematurely aged appearance	26277	TINF2	ORPHA:3322
HP:0007495	Prematurely aged appearance	1736	DKC1	ORPHA:3322
HP:0007495	Prematurely aged appearance	5781	PTPN11	ORPHA:500
HP:0007495	Prematurely aged appearance	5894	RAF1	ORPHA:500
HP:0007495	Prematurely aged appearance	5728	PTEN	ORPHA:137608
HP:0007495	Prematurely aged appearance	23545	ATP6V0A2	ORPHA:2834
HP:0007495	Prematurely aged appearance	1080	CFTR	ORPHA:498359
HP:0007495	Prematurely aged appearance	2074	ERCC6	OMIM:133540
HP:0007495	Prematurely aged appearance	165	AEBP1	OMIM:618000
HP:0007495	Prematurely aged appearance	8260	NAA10	OMIM:300855
HP:0007495	Prematurely aged appearance	1593	CYP27A1	ORPHA:909
HP:0007495	Prematurely aged appearance	9791	PTDSS1	ORPHA:2658
HP:0007495	Prematurely aged appearance	22930	RAB3GAP1	ORPHA:1387
HP:0007495	Prematurely aged appearance	25782	RAB3GAP2	ORPHA:1387
HP:0007495	Prematurely aged appearance	6804	STX1A	ORPHA:904
HP:0007495	Prematurely aged appearance	7461	CLIP2	ORPHA:904
HP:0007495	Prematurely aged appearance	84277	DNAJC30	ORPHA:904
HP:0007495	Prematurely aged appearance	8468	FKBP6	ORPHA:904
HP:0007495	Prematurely aged appearance	5982	RFC2	ORPHA:904
HP:0007495	Prematurely aged appearance	2969	GTF2I	ORPHA:904
HP:0007495	Prematurely aged appearance	3984	LIMK1	ORPHA:904
HP:0007495	Prematurely aged appearance	9569	GTF2IRD1	ORPHA:904
HP:0007495	Prematurely aged appearance	155382	VPS37D	ORPHA:904
HP:0007495	Prematurely aged appearance	155368	METTL27	ORPHA:904
HP:0007495	Prematurely aged appearance	114049	BUD23	ORPHA:904
HP:0007495	Prematurely aged appearance	7458	EIF4H	ORPHA:904
HP:0007495	Prematurely aged appearance	84163	GTF2IRD2	ORPHA:904
HP:0007495	Prematurely aged appearance	9275	BCL7B	ORPHA:904
HP:0007495	Prematurely aged appearance	26608	TBL2	ORPHA:904
HP:0007495	Prematurely aged appearance	653361	NCF1	ORPHA:904
HP:0007495	Prematurely aged appearance	135886	TMEM270	ORPHA:904
HP:0007495	Prematurely aged appearance	51085	MLXIPL	ORPHA:904
HP:0007495	Prematurely aged appearance	9031	BAZ1B	ORPHA:904
HP:0007495	Prematurely aged appearance	545	ATR	ORPHA:808
HP:0007495	Prematurely aged appearance	1062	CENPE	ORPHA:808
HP:0007495	Prematurely aged appearance	5116	PCNT	ORPHA:808
HP:0007495	Prematurely aged appearance	5932	RBBP8	ORPHA:808
HP:0007495	Prematurely aged appearance	79902	NUP85	ORPHA:808
HP:0007495	Prematurely aged appearance	84126	ATRIP	ORPHA:808
HP:0007495	Prematurely aged appearance	55835	CENPJ	ORPHA:808
HP:0007495	Prematurely aged appearance	10293	TRAIP	ORPHA:808
HP:0007495	Prematurely aged appearance	22995	CEP152	ORPHA:808
HP:0007495	Prematurely aged appearance	10733	PLK4	ORPHA:808
HP:0007495	Prematurely aged appearance	81031	SLC2A10	ORPHA:3342
HP:0007495	Prematurely aged appearance	404672	GTF2H5	ORPHA:33364
HP:0007495	Prematurely aged appearance	833	CARS1	ORPHA:33364
HP:0007495	Prematurely aged appearance	2068	ERCC2	ORPHA:33364
HP:0007495	Prematurely aged appearance	2068	ERCC2	ORPHA:220295
HP:0007495	Prematurely aged appearance	7737	RNF113A	ORPHA:33364
HP:0007495	Prematurely aged appearance	136647	MPLKIP	ORPHA:33364
HP:0007495	Prematurely aged appearance	6897	TARS1	ORPHA:33364
HP:0007495	Prematurely aged appearance	2071	ERCC3	ORPHA:33364
HP:0007495	Prematurely aged appearance	2071	ERCC3	ORPHA:220295
HP:0007495	Prematurely aged appearance	2961	GTF2E2	ORPHA:33364
HP:0007495	Prematurely aged appearance	2072	ERCC4	OMIM:610965
HP:0007495	Prematurely aged appearance	2072	ERCC4	ORPHA:220295
HP:0007495	Prematurely aged appearance	7486	WRN	ORPHA:902
HP:0007495	Prematurely aged appearance	7486	WRN	OMIM:277700
HP:0007495	Prematurely aged appearance	1277	COL1A1	ORPHA:287
HP:0007495	Prematurely aged appearance	1289	COL5A1	ORPHA:287
HP:0007495	Prematurely aged appearance	1290	COL5A2	ORPHA:287
HP:0007495	Prematurely aged appearance	472	ATM	ORPHA:100
HP:0007495	Prematurely aged appearance	5159	PDGFRB	OMIM:601812
HP:0007495	Prematurely aged appearance	2073	ERCC5	ORPHA:220295
HP:0007495	Prematurely aged appearance	84168	ANTXR1	ORPHA:2067
HP:0007495	Prematurely aged appearance	1161	ERCC8	OMIM:216400
HP:0007495	Prematurely aged appearance	10651	MTX2	ORPHA:90153
HP:0007495	Prematurely aged appearance	2690	GHR	ORPHA:633
HP:0007495	Prematurely aged appearance	715	C1R	OMIM:130080
HP:0007495	Prematurely aged appearance	2261	FGFR3	OMIM:616482
HP:0007495	Prematurely aged appearance	22808	MRAS	OMIM:618499
HP:0007495	Prematurely aged appearance	5351	PLOD1	OMIM:225400
HP:0007495	Prematurely aged appearance	8216	LZTR1	OMIM:616564
HP:0007495	Prematurely aged appearance	8216	LZTR1	OMIM:605275
HP:0007495	Prematurely aged appearance	84627	ZNF469	OMIM:229200
HP:0007495	Prematurely aged appearance	6016	RIT1	OMIM:615355
HP:0007495	Prematurely aged appearance	2263	FGFR2	OMIM:123790
HP:0007495	Prematurely aged appearance	9333	TGM5	ORPHA:263534
HP:0007495	Prematurely aged appearance	1475	CSTA	ORPHA:263534
HP:0007495	Prematurely aged appearance	79718	TBL1XR1	ORPHA:487825
HP:0007495	Prematurely aged appearance	117581	TWIST2	OMIM:227260
HP:0007495	Prematurely aged appearance	9968	MED12	ORPHA:93932
HP:0007495	Prematurely aged appearance	9968	MED12	OMIM:305450
HP:0007495	Prematurely aged appearance	857	CAV1	OMIM:606721
HP:0007495	Prematurely aged appearance	5295	PIK3R1	OMIM:269880
HP:0007495	Prematurely aged appearance	3763	KCNJ6	ORPHA:435628
HP:0007495	Prematurely aged appearance	10466	COG5	ORPHA:263487
HP:0007495	Prematurely aged appearance	51116	MRPS2	OMIM:617950
HP:0007495	Prematurely aged appearance	1861	TOR1A	OMIM:618947
HP:0007495	Prematurely aged appearance	29957	SLC25A24	OMIM:612289
HP:0007495	Prematurely aged appearance	2006	ELN	ORPHA:90348
HP:0007495	Prematurely aged appearance	10516	FBLN5	ORPHA:90348
HP:0007495	Prematurely aged appearance	10516	FBLN5	OMIM:614434
HP:0007495	Prematurely aged appearance	5832	ALDH18A1	ORPHA:90348
HP:0007495	Prematurely aged appearance	5832	ALDH18A1	OMIM:616603
HP:0007495	Prematurely aged appearance	92344	GORAB	OMIM:231070
HP:0007495	Prematurely aged appearance	11128	POLR3A	OMIM:264090
HP:0007495	Prematurely aged appearance	11128	POLR3A	ORPHA:3455
HP:0007495	Prematurely aged appearance	6513	SLC2A1	ORPHA:1942
HP:0007495	Prematurely aged appearance	8831	SYNGAP1	ORPHA:1942
HP:0007495	Prematurely aged appearance	1173	AP2M1	ORPHA:1942
HP:0007495	Prematurely aged appearance	6323	SCN1A	ORPHA:1942
HP:0007495	Prematurely aged appearance	340533	NEXMIF	ORPHA:1942
HP:0007495	Prematurely aged appearance	1106	CHD2	ORPHA:1942
HP:0007495	Prematurely aged appearance	6529	SLC6A1	ORPHA:1942
HP:0007495	Prematurely aged appearance	79053	ALG8	ORPHA:79325
HP:0007495	Prematurely aged appearance	4000	LMNA	ORPHA:740
HP:0007495	Prematurely aged appearance	4000	LMNA	ORPHA:363618
HP:0007495	Prematurely aged appearance	10269	ZMPSTE24	ORPHA:740
HP:0007495	Prematurely aged appearance	6888	TALDO1	ORPHA:101028
HP:0007495	Prematurely aged appearance	6595	SMARCA2	OMIM:601358
HP:0007495	Prematurely aged appearance	3977	LIFR	OMIM:601559
HP:0000733	Abnormal repetitive mannerisms	2137	EXTL3	ORPHA:508533
HP:0000733	Abnormal repetitive mannerisms	6535	SLC6A8	OMIM:300352
HP:0000733	Abnormal repetitive mannerisms	2132	EXT2	OMIM:616682
HP:0000733	Abnormal repetitive mannerisms	23241	PACS2	OMIM:618067
HP:0000733	Abnormal repetitive mannerisms	91801	ALKBH8	OMIM:618504
HP:0000733	Abnormal repetitive mannerisms	23126	POGZ	ORPHA:468678
HP:0000733	Abnormal repetitive mannerisms	23126	POGZ	OMIM:616364
HP:0000733	Abnormal repetitive mannerisms	10093	ARPC4	OMIM:620141
HP:0000733	Abnormal repetitive mannerisms	4983	OPHN1	OMIM:300486
HP:0000733	Abnormal repetitive mannerisms	283489	CHAMP1	OMIM:616579
HP:0000733	Abnormal repetitive mannerisms	80155	NAA15	OMIM:617787
HP:0000733	Abnormal repetitive mannerisms	80055	PGAP1	OMIM:615802
HP:0000733	Abnormal repetitive mannerisms	2314	FLII	ORPHA:819
HP:0000733	Abnormal repetitive mannerisms	23096	IQSEC2	ORPHA:819
HP:0000733	Abnormal repetitive mannerisms	10522	DEAF1	ORPHA:819
HP:0000733	Abnormal repetitive mannerisms	10522	DEAF1	OMIM:617171
HP:0000733	Abnormal repetitive mannerisms	3781	KCNN2	OMIM:619725
HP:0000733	Abnormal repetitive mannerisms	7086	TKT	ORPHA:488618
HP:0000733	Abnormal repetitive mannerisms	7086	TKT	OMIM:617044
HP:0000733	Abnormal repetitive mannerisms	63908	NAPB	OMIM:620033
HP:0000733	Abnormal repetitive mannerisms	6595	SMARCA2	OMIM:619293
HP:0000733	Abnormal repetitive mannerisms	6660	SOX5	ORPHA:313892
HP:0000733	Abnormal repetitive mannerisms	55870	ASH1L	OMIM:617796
HP:0000733	Abnormal repetitive mannerisms	150094	SIK1	OMIM:616341
HP:0000733	Abnormal repetitive mannerisms	10381	TUBB3	ORPHA:300570
HP:0000733	Abnormal repetitive mannerisms	10716	TBR1	OMIM:606053
HP:0000733	Abnormal repetitive mannerisms	1105	CHD1	OMIM:617682
HP:0000733	Abnormal repetitive mannerisms	1105	CHD1	ORPHA:529965
HP:0000733	Abnormal repetitive mannerisms	1656	DDX6	OMIM:618653
HP:0000733	Abnormal repetitive mannerisms	26053	AUTS2	ORPHA:352490
HP:0000733	Abnormal repetitive mannerisms	4297	KMT2A	ORPHA:319182
HP:0000733	Abnormal repetitive mannerisms	79813	EHMT1	OMIM:610253
HP:0000733	Abnormal repetitive mannerisms	4915	NTRK2	OMIM:613886
HP:0000733	Abnormal repetitive mannerisms	4915	NTRK2	OMIM:617830
HP:0000733	Abnormal repetitive mannerisms	53834	FGFRL1	OMIM:194190
HP:0000733	Abnormal repetitive mannerisms	1487	CTBP1	OMIM:194190
HP:0000733	Abnormal repetitive mannerisms	3954	LETM1	OMIM:194190
HP:0000733	Abnormal repetitive mannerisms	7468	NSD2	OMIM:194190
HP:0000733	Abnormal repetitive mannerisms	7468	NSD2	OMIM:619695
HP:0000733	Abnormal repetitive mannerisms	10815	CPLX1	OMIM:194190
HP:0000733	Abnormal repetitive mannerisms	4247	MGAT2	OMIM:212066
HP:0000733	Abnormal repetitive mannerisms	253738	EBF3	OMIM:617330
HP:0000733	Abnormal repetitive mannerisms	339983	NAT8L	OMIM:614063
HP:0000733	Abnormal repetitive mannerisms	1182	CLCN3	OMIM:619512
HP:0000733	Abnormal repetitive mannerisms	55773	TBC1D23	OMIM:617695
HP:0000733	Abnormal repetitive mannerisms	4137	MAPT	OMIM:172700
HP:0000733	Abnormal repetitive mannerisms	4137	MAPT	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	5663	PSEN1	OMIM:172700
HP:0000733	Abnormal repetitive mannerisms	5663	PSEN1	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	116115	ZNF526	OMIM:619877
HP:0000733	Abnormal repetitive mannerisms	5590	PRKCZ	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	2563	GABRD	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	23013	SPEN	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	23013	SPEN	OMIM:619312
HP:0000733	Abnormal repetitive mannerisms	8510	MMP23B	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	7798	LUZP1	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	6497	SKI	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	10630	PDPN	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	3339	HSPG2	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	10277	UBE4B	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	8514	KCNAB2	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	473	RERE	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	63976	PRDM16	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	54897	CASZ1	ORPHA:1606
HP:0000733	Abnormal repetitive mannerisms	6899	TBX1	ORPHA:1727
HP:0000733	Abnormal repetitive mannerisms	4952	OCRL	OMIM:309000
HP:0000733	Abnormal repetitive mannerisms	4952	OCRL	ORPHA:534
HP:0000733	Abnormal repetitive mannerisms	22859	ADGRL1	OMIM:620065
HP:0000733	Abnormal repetitive mannerisms	1859	DYRK1A	ORPHA:464311
HP:0000733	Abnormal repetitive mannerisms	1859	DYRK1A	OMIM:614104
HP:0000733	Abnormal repetitive mannerisms	10236	HNRNPR	OMIM:620073
HP:0000733	Abnormal repetitive mannerisms	26137	ZBTB20	OMIM:259050
HP:0000733	Abnormal repetitive mannerisms	7750	ZMYM2	OMIM:619522
HP:0000733	Abnormal repetitive mannerisms	3800	KIF5C	OMIM:615282
HP:0000733	Abnormal repetitive mannerisms	6942	TCF20	OMIM:618430
HP:0000733	Abnormal repetitive mannerisms	23261	CAMTA1	OMIM:614756
HP:0000733	Abnormal repetitive mannerisms	9338	TCEAL1	OMIM:301094
HP:0000733	Abnormal repetitive mannerisms	6925	TCF4	OMIM:610954
HP:0000733	Abnormal repetitive mannerisms	4208	MEF2C	ORPHA:228384
HP:0000733	Abnormal repetitive mannerisms	4208	MEF2C	OMIM:613443
HP:0000733	Abnormal repetitive mannerisms	4677	NARS1	OMIM:619092
HP:0000733	Abnormal repetitive mannerisms	7030	TFE3	OMIM:301066
HP:0000733	Abnormal repetitive mannerisms	27086	FOXP1	OMIM:613670
HP:0000733	Abnormal repetitive mannerisms	26047	CNTNAP2	OMIM:610042
HP:0000733	Abnormal repetitive mannerisms	7994	KAT6A	OMIM:616268
HP:0000733	Abnormal repetitive mannerisms	162417	NAGS	ORPHA:927
HP:0000733	Abnormal repetitive mannerisms	23219	FBXO28	OMIM:619777
HP:0000733	Abnormal repetitive mannerisms	1107	CHD3	OMIM:618205
HP:0000733	Abnormal repetitive mannerisms	51574	LARP7	ORPHA:319671
HP:0000733	Abnormal repetitive mannerisms	6509	SLC1A4	ORPHA:447997
HP:0000733	Abnormal repetitive mannerisms	54413	NLGN3	OMIM:300425
HP:0000733	Abnormal repetitive mannerisms	25970	SH2B1	ORPHA:261197
HP:0000733	Abnormal repetitive mannerisms	2702	GJA5	OMIM:612474
HP:0000733	Abnormal repetitive mannerisms	2703	GJA8	OMIM:612474
HP:0000733	Abnormal repetitive mannerisms	7407	VARS1	OMIM:617802
HP:0000733	Abnormal repetitive mannerisms	6857	SYT1	OMIM:618218
HP:0000733	Abnormal repetitive mannerisms	6857	SYT1	ORPHA:522077
HP:0000733	Abnormal repetitive mannerisms	81603	TRIM8	OMIM:619428
HP:0000733	Abnormal repetitive mannerisms	196528	ARID2	OMIM:617808
HP:0000733	Abnormal repetitive mannerisms	9230	RAB11B	OMIM:617807
HP:0000733	Abnormal repetitive mannerisms	10075	HUWE1	OMIM:309590
HP:0000733	Abnormal repetitive mannerisms	22827	PUF60	ORPHA:508498
HP:0000733	Abnormal repetitive mannerisms	56896	DPYSL5	OMIM:619435
HP:0000733	Abnormal repetitive mannerisms	9759	HDAC4	ORPHA:1001
HP:0000733	Abnormal repetitive mannerisms	9759	HDAC4	OMIM:600430
HP:0000733	Abnormal repetitive mannerisms	10785	WDR4	OMIM:618347
HP:0000733	Abnormal repetitive mannerisms	11133	KPTN	OMIM:615637
HP:0000733	Abnormal repetitive mannerisms	11133	KPTN	ORPHA:397612
HP:0000733	Abnormal repetitive mannerisms	6323	SCN1A	OMIM:619317
HP:0000733	Abnormal repetitive mannerisms	546	ATRX	OMIM:301040
HP:0000733	Abnormal repetitive mannerisms	26115	TANC2	OMIM:618906
HP:0000733	Abnormal repetitive mannerisms	5515	PPP2CA	OMIM:618354
HP:0000733	Abnormal repetitive mannerisms	1387	CREBBP	ORPHA:353281
HP:0000733	Abnormal repetitive mannerisms	1387	CREBBP	ORPHA:353277
HP:0000733	Abnormal repetitive mannerisms	29998	BICRA	OMIM:619325
HP:0000733	Abnormal repetitive mannerisms	23291	FBXW11	OMIM:618914
HP:0000733	Abnormal repetitive mannerisms	2033	EP300	ORPHA:353284
HP:0000733	Abnormal repetitive mannerisms	2891	GRIA2	OMIM:618917
HP:0000733	Abnormal repetitive mannerisms	23499	MACF1	ORPHA:572013
HP:0000733	Abnormal repetitive mannerisms	387119	CEP85L	ORPHA:572013
HP:0000733	Abnormal repetitive mannerisms	6904	TBCD	ORPHA:496641
HP:0000733	Abnormal repetitive mannerisms	5934	RBL2	OMIM:619690
HP:0000733	Abnormal repetitive mannerisms	55250	ELP2	OMIM:617270
HP:0000733	Abnormal repetitive mannerisms	112939	NACC1	OMIM:617393
HP:0000733	Abnormal repetitive mannerisms	63035	BCORL1	OMIM:301029
HP:0000733	Abnormal repetitive mannerisms	8260	NAA10	OMIM:300855
HP:0000733	Abnormal repetitive mannerisms	201163	FLCN	OMIM:610883
HP:0000733	Abnormal repetitive mannerisms	1137	CHRNA4	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	1135	CHRNA2	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	57010	CABP4	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	1141	CHRNB2	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	57582	KCNT1	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	1392	CRH	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	9681	DEPDC5	ORPHA:98784
HP:0000733	Abnormal repetitive mannerisms	5422	POLA1	OMIM:301030
HP:0000733	Abnormal repetitive mannerisms	80185	TTI2	OMIM:615541
HP:0000733	Abnormal repetitive mannerisms	80185	TTI2	ORPHA:391307
HP:0000733	Abnormal repetitive mannerisms	6304	SATB1	OMIM:619229
HP:0000733	Abnormal repetitive mannerisms	57187	THOC2	ORPHA:457240
HP:0000733	Abnormal repetitive mannerisms	84065	TMEM222	OMIM:619470
HP:0000733	Abnormal repetitive mannerisms	116442	RAB39B	OMIM:300271
HP:0000733	Abnormal repetitive mannerisms	5977	DPF2	OMIM:618027
HP:0000733	Abnormal repetitive mannerisms	7204	TRIO	OMIM:618825
HP:0000733	Abnormal repetitive mannerisms	7204	TRIO	OMIM:617061
HP:0000733	Abnormal repetitive mannerisms	7204	TRIO	ORPHA:476126
HP:0000733	Abnormal repetitive mannerisms	85440	DOCK7	ORPHA:411986
HP:0000733	Abnormal repetitive mannerisms	25914	RTTN	ORPHA:468631
HP:0000733	Abnormal repetitive mannerisms	28514	DLL1	OMIM:618709
HP:0000733	Abnormal repetitive mannerisms	8567	MADD	OMIM:619005
HP:0000733	Abnormal repetitive mannerisms	6472	SHMT2	OMIM:619121
HP:0000733	Abnormal repetitive mannerisms	5625	PRODH	OMIM:239500
HP:0000733	Abnormal repetitive mannerisms	10717	AP4B1	ORPHA:280763
HP:0000733	Abnormal repetitive mannerisms	9179	AP4M1	ORPHA:280763
HP:0000733	Abnormal repetitive mannerisms	11154	AP4S1	ORPHA:280763
HP:0000733	Abnormal repetitive mannerisms	23431	AP4E1	ORPHA:280763
HP:0000733	Abnormal repetitive mannerisms	25978	CHMP2B	OMIM:600795
HP:0000733	Abnormal repetitive mannerisms	25978	CHMP2B	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	10577	NPC2	OMIM:607625
HP:0000733	Abnormal repetitive mannerisms	57502	NLGN4X	OMIM:300495
HP:0000733	Abnormal repetitive mannerisms	5879	RAC1	OMIM:617751
HP:0000733	Abnormal repetitive mannerisms	5879	RAC1	ORPHA:500159
HP:0000733	Abnormal repetitive mannerisms	5528	PPP2R5D	ORPHA:457279
HP:0000733	Abnormal repetitive mannerisms	10479	SLC9A6	ORPHA:85278
HP:0000733	Abnormal repetitive mannerisms	23435	TARDBP	OMIM:612069
HP:0000733	Abnormal repetitive mannerisms	91147	TMEM67	OMIM:610688
HP:0000733	Abnormal repetitive mannerisms	4693	NDP	ORPHA:649
HP:0000733	Abnormal repetitive mannerisms	10079	ATP9A	OMIM:620242
HP:0000733	Abnormal repetitive mannerisms	2896	GRN	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	54664	TMEM106B	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	8878	SQSTM1	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	54209	TREM2	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	7415	VCP	ORPHA:275864
HP:0000733	Abnormal repetitive mannerisms	8942	KYNU	ORPHA:79155
HP:0000733	Abnormal repetitive mannerisms	3000	GUCY2D	OMIM:204000
HP:0000733	Abnormal repetitive mannerisms	6121	RPE65	OMIM:204100
HP:0000733	Abnormal repetitive mannerisms	7287	TULP1	OMIM:613843
HP:0000733	Abnormal repetitive mannerisms	23418	CRB1	OMIM:613835
HP:0000733	Abnormal repetitive mannerisms	64802	NMNAT1	OMIM:608553
HP:0000733	Abnormal repetitive mannerisms	5138	PDE2A	OMIM:619150
HP:0000733	Abnormal repetitive mannerisms	55777	MBD5	OMIM:156200
HP:0000733	Abnormal repetitive mannerisms	4204	MECP2	OMIM:300055
HP:0000733	Abnormal repetitive mannerisms	4204	MECP2	OMIM:300260
HP:0000733	Abnormal repetitive mannerisms	4204	MECP2	OMIM:312750
HP:0000733	Abnormal repetitive mannerisms	56992	KIF15	ORPHA:261323
HP:0000733	Abnormal repetitive mannerisms	83696	TRAPPC9	OMIM:613192
HP:0000733	Abnormal repetitive mannerisms	288	ANK3	OMIM:615493
HP:0000733	Abnormal repetitive mannerisms	288	ANK3	ORPHA:356996
HP:0000733	Abnormal repetitive mannerisms	8367	H4C5	OMIM:619950
HP:0000733	Abnormal repetitive mannerisms	340533	NEXMIF	OMIM:300912
HP:0000733	Abnormal repetitive mannerisms	23221	RHOBTB2	OMIM:618004
HP:0000733	Abnormal repetitive mannerisms	3899	AFF3	OMIM:619297
HP:0000733	Abnormal repetitive mannerisms	54517	PUS7	OMIM:618342
HP:0000733	Abnormal repetitive mannerisms	6711	SPTBN1	OMIM:619475
HP:0000733	Abnormal repetitive mannerisms	85358	SHANK3	ORPHA:48652
HP:0000733	Abnormal repetitive mannerisms	85358	SHANK3	OMIM:606232
HP:0000733	Abnormal repetitive mannerisms	816	CAMK2B	OMIM:617799
HP:0000733	Abnormal repetitive mannerisms	3064	HTT	OMIM:617435
HP:0000733	Abnormal repetitive mannerisms	2290	FOXG1	OMIM:613454
HP:0000733	Abnormal repetitive mannerisms	23394	ADNP	OMIM:615873
HP:0000733	Abnormal repetitive mannerisms	781	CACNA2D1	OMIM:620149
HP:0000733	Abnormal repetitive mannerisms	93210	PGAP3	OMIM:615716
HP:0000733	Abnormal repetitive mannerisms	3190	HNRNPK	ORPHA:352665
HP:0000733	Abnormal repetitive mannerisms	3190	HNRNPK	ORPHA:453504
HP:0000733	Abnormal repetitive mannerisms	9839	ZEB2	ORPHA:261537
HP:0000733	Abnormal repetitive mannerisms	9839	ZEB2	ORPHA:261552
HP:0000733	Abnormal repetitive mannerisms	6792	CDKL5	ORPHA:505652
HP:0000733	Abnormal repetitive mannerisms	10087	CERT1	OMIM:616351
HP:0000733	Abnormal repetitive mannerisms	774	CACNA1B	OMIM:618497
HP:0000733	Abnormal repetitive mannerisms	10533	ATG7	OMIM:619422
HP:0000733	Abnormal repetitive mannerisms	1917	EEF1A2	OMIM:616393
HP:0000733	Abnormal repetitive mannerisms	2902	GRIN1	OMIM:614254
HP:0000733	Abnormal repetitive mannerisms	23230	VPS13A	ORPHA:2388
HP:0000733	Abnormal repetitive mannerisms	22907	DHX30	OMIM:617804
HP:0000733	Abnormal repetitive mannerisms	9568	GABBR2	OMIM:617903
HP:0000733	Abnormal repetitive mannerisms	2783	GNB2	OMIM:619503
HP:0000733	Abnormal repetitive mannerisms	10472	ZBTB18	OMIM:612337
HP:0000733	Abnormal repetitive mannerisms	84628	NTNG2	OMIM:618718
HP:0000733	Abnormal repetitive mannerisms	131118	DNAJC19	ORPHA:66634
HP:0000733	Abnormal repetitive mannerisms	3458	IFNG	ORPHA:805
HP:0000733	Abnormal repetitive mannerisms	7248	TSC1	ORPHA:805
HP:0000733	Abnormal repetitive mannerisms	7249	TSC2	ORPHA:805
HP:0000733	Abnormal repetitive mannerisms	7025	NR2F1	ORPHA:401777
HP:0000733	Abnormal repetitive mannerisms	1798	DPAGT1	ORPHA:86309
HP:0000733	Abnormal repetitive mannerisms	374969	SVBP	OMIM:618569
HP:0000733	Abnormal repetitive mannerisms	6638	SNRPN	ORPHA:177907
HP:0000733	Abnormal repetitive mannerisms	57551	TAOK1	OMIM:619575
HP:0000733	Abnormal repetitive mannerisms	10524	KAT5	OMIM:619103
HP:0000733	Abnormal repetitive mannerisms	5281	PIGF	OMIM:619356
HP:0000733	Abnormal repetitive mannerisms	5594	MAPK1	OMIM:619087
HP:0000733	Abnormal repetitive mannerisms	4001	LMNB1	OMIM:619179
HP:0000733	Abnormal repetitive mannerisms	6844	VAMP2	OMIM:618760
HP:0000733	Abnormal repetitive mannerisms	2770	GNAI1	OMIM:619854
HP:0000733	Abnormal repetitive mannerisms	10659	CELF2	OMIM:619561
HP:0000733	Abnormal repetitive mannerisms	3745	KCNB1	OMIM:616056
HP:0000733	Abnormal repetitive mannerisms	2903	GRIN2A	ORPHA:289266
HP:0000733	Abnormal repetitive mannerisms	8905	AP1S2	OMIM:304340
HP:0000733	Abnormal repetitive mannerisms	10730	YME1L1	OMIM:617302
HP:0000733	Abnormal repetitive mannerisms	80232	WDR26	ORPHA:513456
HP:0000733	Abnormal repetitive mannerisms	6513	SLC2A1	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	2562	GABRB3	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	2554	GABRA1	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	8912	CACNA1H	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	8629	JRK	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	2566	GABRG2	ORPHA:64280
HP:0000733	Abnormal repetitive mannerisms	10743	RAI1	OMIM:182290
HP:0000733	Abnormal repetitive mannerisms	7337	UBE3A	ORPHA:98794
HP:0000733	Abnormal repetitive mannerisms	7337	UBE3A	ORPHA:411511
HP:0000733	Abnormal repetitive mannerisms	4948	OCA2	ORPHA:98794
HP:0000733	Abnormal repetitive mannerisms	1725	DHPS	OMIM:618480
HP:0000733	Abnormal repetitive mannerisms	8812	CCNK	OMIM:618147
HP:0000733	Abnormal repetitive mannerisms	2332	FMR1	ORPHA:449291
HP:0000733	Abnormal repetitive mannerisms	2332	FMR1	OMIM:300624
HP:0000733	Abnormal repetitive mannerisms	2334	AFF2	OMIM:309548
HP:0000733	Abnormal repetitive mannerisms	2334	AFF2	ORPHA:100973
HP:0000733	Abnormal repetitive mannerisms	23316	CUX2	OMIM:618141
HP:0000733	Abnormal repetitive mannerisms	57680	CHD8	OMIM:615032
HP:0000733	Abnormal repetitive mannerisms	8831	SYNGAP1	ORPHA:544254
HP:0000733	Abnormal repetitive mannerisms	51126	NAA20	OMIM:619717
HP:0000733	Abnormal repetitive mannerisms	8924	HERC2	OMIM:615516
HP:0000733	Abnormal repetitive mannerisms	118987	PDZD8	OMIM:620021
HP:0000733	Abnormal repetitive mannerisms	2898	GRIK2	OMIM:619580
HP:0000733	Abnormal repetitive mannerisms	5575	PRKAR1B	OMIM:619680
HP:0000733	Abnormal repetitive mannerisms	1457	CSNK2A1	OMIM:617062
HP:0000733	Abnormal repetitive mannerisms	122553	TRAPPC6B	OMIM:617862
HP:0000733	Abnormal repetitive mannerisms	80816	ASXL3	OMIM:615485
HP:0000733	Abnormal repetitive mannerisms	80816	ASXL3	ORPHA:352577
HP:0000733	Abnormal repetitive mannerisms	57520	HECW2	OMIM:617268
HP:0000733	Abnormal repetitive mannerisms	53335	BCL11A	OMIM:617101
HP:0000733	Abnormal repetitive mannerisms	3188	HNRNPH2	OMIM:300986
HP:0000733	Abnormal repetitive mannerisms	51111	KMT5B	OMIM:617788
HP:0000733	Abnormal repetitive mannerisms	23152	CIC	OMIM:617600
HP:0000733	Abnormal repetitive mannerisms	4858	NOVA2	OMIM:618859
HP:0000733	Abnormal repetitive mannerisms	23097	CDK19	OMIM:618916
HP:0000733	Abnormal repetitive mannerisms	22854	NTNG1	ORPHA:3095
HP:0000733	Abnormal repetitive mannerisms	8243	SMC1A	ORPHA:3095
HP:0000733	Abnormal repetitive mannerisms	132158	GLYCTK	OMIM:220120
HP:0000733	Abnormal repetitive mannerisms	57688	ZSWIM6	OMIM:617865
HP:0000733	Abnormal repetitive mannerisms	673	BRAF	OMIM:115150
HP:0000733	Abnormal repetitive mannerisms	1644	DDC	OMIM:608643
HP:0008756	Bowing of the vocal cords	9782	MATR3	OMIM:606070
HP:0008756	Bowing of the vocal cords	9782	MATR3	ORPHA:600
HP:0008756	Bowing of the vocal cords	29967	LRP12	OMIM:164310
HP:0008756	Bowing of the vocal cords	10755	GIPC1	ORPHA:98897
HP:0008756	Bowing of the vocal cords	100996717	NOTCH2NLC	ORPHA:98897
HP:0008755	Laryngotracheomalacia	2317	FLNB	ORPHA:56305
HP:0008755	Laryngotracheomalacia	2317	FLNB	ORPHA:503
HP:0008755	Laryngotracheomalacia	23065	EMC1	OMIM:616875
HP:0008755	Laryngotracheomalacia	23065	EMC1	ORPHA:480898
HP:0008755	Laryngotracheomalacia	1280	COL2A1	ORPHA:485
HP:0008755	Laryngotracheomalacia	1280	COL2A1	ORPHA:94068
HP:0008755	Laryngotracheomalacia	1280	COL2A1	ORPHA:93346
HP:0008755	Laryngotracheomalacia	3835	KIF22	ORPHA:93360
HP:0008755	Laryngotracheomalacia	3098	HK1	OMIM:618547
HP:0008755	Laryngotracheomalacia	8295	TRRAP	OMIM:618454
HP:0008755	Laryngotracheomalacia	4796	TONSL	OMIM:271510
HP:0008757	Unilateral vocal cord paralysis	5422	POLA1	OMIM:301030
HP:0034606	Elevated circulating porphyrin concentration	210	ALAD	ORPHA:100924
HP:0034606	Elevated circulating porphyrin concentration	10845	CLPX	OMIM:618015
HP:0034606	Elevated circulating porphyrin concentration	7390	UROS	ORPHA:79277
HP:0034606	Elevated circulating porphyrin concentration	2623	GATA1	ORPHA:79277
HP:0034606	Elevated circulating porphyrin concentration	212	ALAS2	OMIM:300752
HP:0008760	Violent behavior	9487	PIGL	OMIM:280000
HP:0008760	Violent behavior	80025	PANK2	ORPHA:216873
HP:0008760	Violent behavior	6711	SPTBN1	OMIM:619475
HP:0008770	Obsessive-compulsive trait	1203	CLN5	ORPHA:228360
HP:0008770	Obsessive-compulsive trait	57459	GATAD2B	ORPHA:363686
HP:0008770	Obsessive-compulsive trait	6638	SNRPN	ORPHA:177904
HP:0008770	Obsessive-compulsive trait	6638	SNRPN	ORPHA:177901
HP:0008770	Obsessive-compulsive trait	4692	NDN	ORPHA:177904
HP:0008770	Obsessive-compulsive trait	4692	NDN	ORPHA:177901
HP:0008770	Obsessive-compulsive trait	54551	MAGEL2	ORPHA:177904
HP:0008770	Obsessive-compulsive trait	54551	MAGEL2	ORPHA:177901
HP:0008770	Obsessive-compulsive trait	4948	OCA2	ORPHA:177904
HP:0008770	Obsessive-compulsive trait	4948	OCA2	ORPHA:177901
HP:0008770	Obsessive-compulsive trait	2332	FMR1	OMIM:300623
HP:0008770	Obsessive-compulsive trait	7874	USP7	ORPHA:500055
HP:0008770	Obsessive-compulsive trait	55870	ASH1L	OMIM:617796
HP:0008770	Obsessive-compulsive trait	50651	SLC45A1	OMIM:617532
HP:0008770	Obsessive-compulsive trait	8831	SYNGAP1	ORPHA:544254
HP:0008770	Obsessive-compulsive trait	7204	TRIO	OMIM:618825
HP:0008770	Obsessive-compulsive trait	2328	FMO3	ORPHA:468726
HP:0008770	Obsessive-compulsive trait	7532	YWHAG	OMIM:617665
HP:0008770	Obsessive-compulsive trait	1760	DMPK	OMIM:160900
HP:0008770	Obsessive-compulsive trait	6335	SCN9A	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	6335	SCN9A	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	6326	SCN2A	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	6326	SCN2A	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	2554	GABRA1	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	6323	SCN1A	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	6323	SCN1A	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	6324	SCN1B	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	6324	SCN1B	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	57526	PCDH19	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	2566	GABRG2	ORPHA:33069
HP:0008770	Obsessive-compulsive trait	2566	GABRG2	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	51085	MLXIPL	OMIM:194050
HP:0008770	Obsessive-compulsive trait	2006	ELN	OMIM:194050
HP:0008770	Obsessive-compulsive trait	112755	STX1B	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	2563	GABRD	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	348980	HCN1	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	84059	ADGRV1	ORPHA:36387
HP:0008770	Obsessive-compulsive trait	80025	PANK2	OMIM:234200
HP:0008770	Obsessive-compulsive trait	7074	TIAM1	OMIM:619908
HP:0008762	Repetitive compulsive behavior	4204	MECP2	OMIM:300260
HP:0008762	Repetitive compulsive behavior	131118	DNAJC19	ORPHA:66634
HP:0008762	Repetitive compulsive behavior	3458	IFNG	ORPHA:805
HP:0008762	Repetitive compulsive behavior	7248	TSC1	ORPHA:805
HP:0008762	Repetitive compulsive behavior	7249	TSC2	ORPHA:805
HP:0008762	Repetitive compulsive behavior	7025	NR2F1	ORPHA:401777
HP:0008762	Repetitive compulsive behavior	80232	WDR26	ORPHA:513456
HP:0008762	Repetitive compulsive behavior	6857	SYT1	ORPHA:522077
HP:0008762	Repetitive compulsive behavior	27086	FOXP1	ORPHA:391372
HP:0008762	Repetitive compulsive behavior	26053	AUTS2	ORPHA:352490
HP:0008762	Repetitive compulsive behavior	2896	GRN	OMIM:607485
HP:0008762	Repetitive compulsive behavior	6711	SPTBN1	OMIM:619475
HP:0008763	No social interaction	2137	EXTL3	ORPHA:508533
HP:0008763	No social interaction	51	ACOX1	OMIM:264470
HP:0008763	No social interaction	23096	IQSEC2	OMIM:309530
HP:0008763	No social interaction	81603	TRIM8	OMIM:619428
HP:0008763	No social interaction	84340	GFM2	ORPHA:565624
HP:0008763	No social interaction	25970	SH2B1	ORPHA:329249
HP:0000752	Hyperactivity	10682	EBP	ORPHA:401973
HP:0000752	Hyperactivity	10682	EBP	OMIM:300960
HP:0000752	Hyperactivity	199857	ALG14	OMIM:619031
HP:0000752	Hyperactivity	8450	CUL4B	OMIM:300354
HP:0000752	Hyperactivity	8450	CUL4B	ORPHA:85293
HP:0000752	Hyperactivity	158	ADSL	OMIM:103050
HP:0000752	Hyperactivity	8036	SHOC2	OMIM:607721
HP:0000752	Hyperactivity	340533	NEXMIF	OMIM:300912
HP:0000752	Hyperactivity	340533	NEXMIF	ORPHA:1942
HP:0000752	Hyperactivity	9853	RUSC2	OMIM:617773
HP:0000752	Hyperactivity	23135	KDM6B	OMIM:618505
HP:0000752	Hyperactivity	26040	SETBP1	ORPHA:436151
HP:0000752	Hyperactivity	26040	SETBP1	OMIM:616078
HP:0000752	Hyperactivity	7253	TSHR	ORPHA:99819
HP:0000752	Hyperactivity	7253	TSHR	ORPHA:424
HP:0000752	Hyperactivity	7253	TSHR	OMIM:609152
HP:0000752	Hyperactivity	55777	MBD5	ORPHA:228402
HP:0000752	Hyperactivity	1119	CHKA	OMIM:620023
HP:0000752	Hyperactivity	51343	FZR1	OMIM:620145
HP:0000752	Hyperactivity	23126	POGZ	ORPHA:468678
HP:0000752	Hyperactivity	23126	POGZ	OMIM:616364
HP:0000752	Hyperactivity	10093	ARPC4	OMIM:620141
HP:0000752	Hyperactivity	2731	GLDC	OMIM:605899
HP:0000752	Hyperactivity	275	AMT	OMIM:605899
HP:0000752	Hyperactivity	4784	NFIX	ORPHA:447980
HP:0000752	Hyperactivity	2593	GAMT	ORPHA:382
HP:0000752	Hyperactivity	4983	OPHN1	OMIM:300486
HP:0000752	Hyperactivity	6535	SLC6A8	ORPHA:52503
HP:0000752	Hyperactivity	3020	H3-3A	OMIM:619720
HP:0000752	Hyperactivity	10730	YME1L1	OMIM:617302
HP:0000752	Hyperactivity	56623	INPP5E	ORPHA:75858
HP:0000752	Hyperactivity	56623	INPP5E	OMIM:213300
HP:0000752	Hyperactivity	26580	BSCL2	OMIM:615924
HP:0000752	Hyperactivity	26580	BSCL2	ORPHA:363400
HP:0000752	Hyperactivity	284403	WDR62	OMIM:604317
HP:0000752	Hyperactivity	56992	KIF15	ORPHA:261323
HP:0000752	Hyperactivity	83696	TRAPPC9	OMIM:613192
HP:0000752	Hyperactivity	288	ANK3	OMIM:615493
HP:0000752	Hyperactivity	288	ANK3	ORPHA:356996
HP:0000752	Hyperactivity	3064	HTT	ORPHA:248111
HP:0000752	Hyperactivity	10134	BCAP31	ORPHA:369939
HP:0000752	Hyperactivity	55870	ASH1L	OMIM:617796
HP:0000752	Hyperactivity	215	ABCD1	ORPHA:139396
HP:0000752	Hyperactivity	80204	FBXO11	OMIM:618089
HP:0000752	Hyperactivity	535	ATP6V0A1	OMIM:619970
HP:0000752	Hyperactivity	340024	SLC6A19	OMIM:234500
HP:0000752	Hyperactivity	3034	HAL	ORPHA:2157
HP:0000752	Hyperactivity	1183	CLCN4	ORPHA:485350
HP:0000752	Hyperactivity	10015	PDCD6IP	OMIM:620047
HP:0000752	Hyperactivity	8289	ARID1A	OMIM:614607
HP:0000752	Hyperactivity	8289	ARID1A	ORPHA:1465
HP:0000752	Hyperactivity	8398	PLA2G6	ORPHA:35069
HP:0000752	Hyperactivity	8398	PLA2G6	OMIM:610217
HP:0000752	Hyperactivity	7080	NKX2-1	ORPHA:209905
HP:0000752	Hyperactivity	1717	DHCR7	OMIM:270400
HP:0000752	Hyperactivity	80856	LNPK	OMIM:618090
HP:0000752	Hyperactivity	1759	DNM1	ORPHA:2382
HP:0000752	Hyperactivity	2562	GABRB3	ORPHA:2382
HP:0000752	Hyperactivity	2562	GABRB3	OMIM:617113
HP:0000752	Hyperactivity	5602	MAPK10	ORPHA:2382
HP:0000752	Hyperactivity	773	CACNA1A	ORPHA:2382
HP:0000752	Hyperactivity	6323	SCN1A	ORPHA:2382
HP:0000752	Hyperactivity	6323	SCN1A	ORPHA:1942
HP:0000752	Hyperactivity	23316	CUX2	ORPHA:2382
HP:0000752	Hyperactivity	1106	CHD2	ORPHA:2382
HP:0000752	Hyperactivity	1106	CHD2	ORPHA:1942
HP:0000752	Hyperactivity	26053	AUTS2	ORPHA:352490
HP:0000752	Hyperactivity	26053	AUTS2	OMIM:615834
HP:0000752	Hyperactivity	4297	KMT2A	ORPHA:319182
HP:0000752	Hyperactivity	4297	KMT2A	OMIM:605130
HP:0000752	Hyperactivity	23230	VPS13A	ORPHA:2388
HP:0000752	Hyperactivity	11284	PNKP	OMIM:613402
HP:0000752	Hyperactivity	11284	PNKP	ORPHA:1934
HP:0000752	Hyperactivity	5144	PDE4D	OMIM:614613
HP:0000752	Hyperactivity	5144	PDE4D	ORPHA:280651
HP:0000752	Hyperactivity	23314	SATB2	OMIM:612313
HP:0000752	Hyperactivity	84300	UQCC2	OMIM:615824
HP:0000752	Hyperactivity	2903	GRIN2A	ORPHA:98818
HP:0000752	Hyperactivity	25942	SIN3A	OMIM:613406
HP:0000752	Hyperactivity	7915	ALDH5A1	OMIM:271980
HP:0000752	Hyperactivity	1182	CLCN3	OMIM:619512
HP:0000752	Hyperactivity	5063	PAK3	OMIM:300558
HP:0000752	Hyperactivity	6638	SNRPN	OMIM:105830
HP:0000752	Hyperactivity	6638	SNRPN	ORPHA:411515
HP:0000752	Hyperactivity	7337	UBE3A	OMIM:105830
HP:0000752	Hyperactivity	7337	UBE3A	ORPHA:98794
HP:0000752	Hyperactivity	7337	UBE3A	ORPHA:411515
HP:0000752	Hyperactivity	80025	PANK2	OMIM:234200
HP:0000752	Hyperactivity	57459	GATAD2B	ORPHA:363686
HP:0000752	Hyperactivity	57459	GATAD2B	OMIM:615074
HP:0000752	Hyperactivity	113179	ADAT3	OMIM:615286
HP:0000752	Hyperactivity	113179	ADAT3	ORPHA:363528
HP:0000752	Hyperactivity	6942	TCF20	OMIM:618430
HP:0000752	Hyperactivity	23261	CAMTA1	OMIM:614756
HP:0000752	Hyperactivity	476	ATP1A1	OMIM:618314
HP:0000752	Hyperactivity	54862	CC2D1A	OMIM:608443
HP:0000752	Hyperactivity	10430	TMEM147	OMIM:620075
HP:0000752	Hyperactivity	8242	KDM5C	OMIM:300534
HP:0000752	Hyperactivity	10743	RAI1	OMIM:182290
HP:0000752	Hyperactivity	546	ATRX	OMIM:309580
HP:0000752	Hyperactivity	26047	CNTNAP2	OMIM:610042
HP:0000752	Hyperactivity	26047	CNTNAP2	ORPHA:163681
HP:0000752	Hyperactivity	10735	STAG2	ORPHA:521258
HP:0000752	Hyperactivity	10165	SLC25A13	ORPHA:247585
HP:0000752	Hyperactivity	3458	IFNG	ORPHA:805
HP:0000752	Hyperactivity	7248	TSC1	ORPHA:805
HP:0000752	Hyperactivity	7249	TSC2	ORPHA:805
HP:0000752	Hyperactivity	147372	CCBE1	OMIM:235510
HP:0000752	Hyperactivity	6509	SLC1A4	ORPHA:447997
HP:0000752	Hyperactivity	6509	SLC1A4	OMIM:616657
HP:0000752	Hyperactivity	6513	SLC2A1	ORPHA:1942
HP:0000752	Hyperactivity	8831	SYNGAP1	ORPHA:1942
HP:0000752	Hyperactivity	1173	AP2M1	ORPHA:1942
HP:0000752	Hyperactivity	6529	SLC6A1	ORPHA:1942
HP:0000752	Hyperactivity	2742	GLRA2	OMIM:301076
HP:0000752	Hyperactivity	3845	KRAS	OMIM:600268
HP:0000752	Hyperactivity	2033	EP300	OMIM:613684
HP:0000752	Hyperactivity	2033	EP300	ORPHA:353284
HP:0000752	Hyperactivity	2033	EP300	OMIM:180849
HP:0000752	Hyperactivity	6878	TAF6	OMIM:617126
HP:0000752	Hyperactivity	6792	CDKL5	ORPHA:1934
HP:0000752	Hyperactivity	3736	KCNA1	ORPHA:1934
HP:0000752	Hyperactivity	9091	PIGQ	ORPHA:1934
HP:0000752	Hyperactivity	2775	GNAO1	ORPHA:1934
HP:0000752	Hyperactivity	81603	TRIM8	ORPHA:1934
HP:0000752	Hyperactivity	2902	GRIN1	ORPHA:1934
HP:0000752	Hyperactivity	79751	SLC25A22	ORPHA:1934
HP:0000752	Hyperactivity	150094	SIK1	ORPHA:1934
HP:0000752	Hyperactivity	8573	CASK	ORPHA:1934
HP:0000752	Hyperactivity	23312	DMXL2	ORPHA:1934
HP:0000752	Hyperactivity	2917	GRM7	ORPHA:1934
HP:0000752	Hyperactivity	170302	ARX	ORPHA:1934
HP:0000752	Hyperactivity	6326	SCN2A	ORPHA:1934
HP:0000752	Hyperactivity	51227	PIGP	ORPHA:1934
HP:0000752	Hyperactivity	6324	SCN1B	ORPHA:1934
HP:0000752	Hyperactivity	4761	NEUROD2	ORPHA:1934
HP:0000752	Hyperactivity	54808	DYM	ORPHA:239
HP:0000752	Hyperactivity	10075	HUWE1	OMIM:309590
HP:0000752	Hyperactivity	1203	CLN5	ORPHA:228360
HP:0000752	Hyperactivity	3479	IGF1	ORPHA:73272
HP:0000752	Hyperactivity	3479	IGF1	OMIM:608747
HP:0000752	Hyperactivity	57526	PCDH19	ORPHA:101039
HP:0000752	Hyperactivity	6448	SGSH	OMIM:252900
HP:0000752	Hyperactivity	54517	PUS7	OMIM:618342
HP:0000752	Hyperactivity	4683	NBN	OMIM:251260
HP:0000752	Hyperactivity	23394	ADNP	OMIM:615873
HP:0000752	Hyperactivity	8924	HERC2	OMIM:615516
HP:0000752	Hyperactivity	50814	NSDHL	ORPHA:251383
HP:0000752	Hyperactivity	50814	NSDHL	OMIM:300831
HP:0000752	Hyperactivity	2334	AFF2	ORPHA:100973
HP:0000752	Hyperactivity	2334	AFF2	OMIM:309548
HP:0000752	Hyperactivity	1387	CREBBP	ORPHA:353281
HP:0000752	Hyperactivity	1387	CREBBP	OMIM:180849
HP:0000752	Hyperactivity	1387	CREBBP	ORPHA:353277
HP:0000752	Hyperactivity	1806	DPYD	OMIM:274270
HP:0000752	Hyperactivity	10157	AASS	ORPHA:2203
HP:0000752	Hyperactivity	10157	AASS	OMIM:238700
HP:0000752	Hyperactivity	5053	PAH	OMIM:261600
HP:0000752	Hyperactivity	5053	PAH	ORPHA:2209
HP:0000752	Hyperactivity	1654	DDX3X	ORPHA:457260
HP:0000752	Hyperactivity	1654	DDX3X	OMIM:300958
HP:0000752	Hyperactivity	3097	HIVEP2	OMIM:616977
HP:0000752	Hyperactivity	1815	DRD4	OMIM:143465
HP:0000752	Hyperactivity	1816	DRD5	OMIM:143465
HP:0000752	Hyperactivity	4948	OCA2	ORPHA:98794
HP:0000752	Hyperactivity	2332	FMR1	ORPHA:449291
HP:0000752	Hyperactivity	2332	FMR1	OMIM:300624
HP:0000752	Hyperactivity	6601	SMARCC2	OMIM:618362
HP:0000752	Hyperactivity	6601	SMARCC2	ORPHA:1465
HP:0000752	Hyperactivity	7468	NSD2	OMIM:619695
HP:0000752	Hyperactivity	85358	SHANK3	ORPHA:48652
HP:0000752	Hyperactivity	85358	SHANK3	OMIM:613950
HP:0000752	Hyperactivity	6597	SMARCA4	ORPHA:1465
HP:0000752	Hyperactivity	6598	SMARCB1	ORPHA:1465
HP:0000752	Hyperactivity	6659	SOX4	ORPHA:1465
HP:0000752	Hyperactivity	5977	DPF2	ORPHA:1465
HP:0000752	Hyperactivity	5977	DPF2	OMIM:618027
HP:0000752	Hyperactivity	6602	SMARCD1	ORPHA:1465
HP:0000752	Hyperactivity	57492	ARID1B	ORPHA:1465
HP:0000752	Hyperactivity	196528	ARID2	ORPHA:1465
HP:0000752	Hyperactivity	6605	SMARCE1	ORPHA:1465
HP:0000752	Hyperactivity	6664	SOX11	ORPHA:1465
HP:0000752	Hyperactivity	201163	FLCN	OMIM:610883
HP:0000752	Hyperactivity	23389	MED13L	ORPHA:369891
HP:0000752	Hyperactivity	22827	PUF60	ORPHA:508488
HP:0000752	Hyperactivity	23258	DENND5A	OMIM:617281
HP:0000752	Hyperactivity	1760	DMPK	ORPHA:589821
HP:0000752	Hyperactivity	164	AP1G1	OMIM:619467
HP:0000752	Hyperactivity	9758	FRMPD4	OMIM:300983
HP:0000752	Hyperactivity	10297	APC2	OMIM:617169
HP:0000752	Hyperactivity	80185	TTI2	OMIM:615541
HP:0000752	Hyperactivity	80185	TTI2	ORPHA:391307
HP:0000752	Hyperactivity	4126	MANBA	OMIM:248510
HP:0000752	Hyperactivity	51305	KCNK9	ORPHA:166108
HP:0000752	Hyperactivity	545	ATR	OMIM:210600
HP:0000752	Hyperactivity	2475	MTOR	ORPHA:457485
HP:0000752	Hyperactivity	23152	CIC	OMIM:617600
HP:0000752	Hyperactivity	4914	NTRK1	OMIM:256800
HP:0000752	Hyperactivity	4914	NTRK1	ORPHA:642
HP:0000752	Hyperactivity	4204	MECP2	ORPHA:3077
HP:0000752	Hyperactivity	6697	SPR	OMIM:612716
HP:0000752	Hyperactivity	84065	TMEM222	OMIM:619470
HP:0000752	Hyperactivity	116442	RAB39B	OMIM:300271
HP:0000752	Hyperactivity	134218	DNAJC21	OMIM:617052
HP:0000752	Hyperactivity	10367	MICU1	OMIM:615673
HP:0000752	Hyperactivity	22866	CNKSR2	OMIM:301008
HP:0000752	Hyperactivity	6711	SPTBN1	OMIM:619475
HP:0000752	Hyperactivity	3747	KCNC2	OMIM:619913
HP:0000752	Hyperactivity	1859	DYRK1A	OMIM:614104
HP:0000752	Hyperactivity	8452	CUL3	OMIM:619239
HP:0000752	Hyperactivity	9968	MED12	OMIM:309520
HP:0000752	Hyperactivity	7343	UBTF	ORPHA:500180
HP:0000752	Hyperactivity	63932	STEEP1	OMIM:301013
HP:0000752	Hyperactivity	10681	GNB5	OMIM:617182
HP:0000752	Hyperactivity	57477	SHROOM4	ORPHA:85288
HP:0000752	Hyperactivity	57688	ZSWIM6	OMIM:617865
HP:0000752	Hyperactivity	2890	GRIA1	OMIM:619927
HP:0000752	Hyperactivity	5625	PRODH	OMIM:239500
HP:0000752	Hyperactivity	2799	GNS	OMIM:252940
HP:0000752	Hyperactivity	84628	NTNG2	OMIM:618718
HP:0000752	Hyperactivity	9759	HDAC4	OMIM:600430
HP:0000752	Hyperactivity	95	ACY1	OMIM:609924
HP:0000752	Hyperactivity	9320	TRIP12	OMIM:617752
HP:0000752	Hyperactivity	5879	RAC1	OMIM:617751
HP:0000752	Hyperactivity	383	ARG1	OMIM:207800
HP:0000752	Hyperactivity	284058	KANSL1	OMIM:610443
HP:0000752	Hyperactivity	5718	PSMD12	OMIM:617516
HP:0000752	Hyperactivity	11043	MID2	OMIM:300928
HP:0000752	Hyperactivity	138050	HGSNAT	OMIM:252930
HP:0000752	Hyperactivity	10079	ATP9A	OMIM:620242
HP:0000752	Hyperactivity	5727	PTCH1	ORPHA:77301
HP:0000752	Hyperactivity	4860	PNP	ORPHA:760
HP:0000752	Hyperactivity	5573	PRKAR1A	ORPHA:280651
HP:0000752	Hyperactivity	11141	IL1RAPL1	OMIM:300143
HP:0000752	Hyperactivity	23102	TBC1D2B	ORPHA:397973
HP:0000752	Hyperactivity	1804	DPP6	OMIM:616311
HP:0000752	Hyperactivity	55367	PIDD1	OMIM:619827
HP:0000752	Hyperactivity	5518	PPP2R1A	ORPHA:457284
HP:0000752	Hyperactivity	161742	SPRED1	ORPHA:137605
HP:0000752	Hyperactivity	57194	ATP10A	ORPHA:411515
HP:0000752	Hyperactivity	4669	NAGLU	OMIM:252920
HP:0000752	Hyperactivity	128	ADH5	OMIM:619151
HP:0000752	Hyperactivity	7528	YY1	ORPHA:506358
HP:0000752	Hyperactivity	7528	YY1	OMIM:617557
HP:0000752	Hyperactivity	25970	SH2B1	ORPHA:261222
HP:0000752	Hyperactivity	25970	SH2B1	ORPHA:261197
HP:0000752	Hyperactivity	2554	GABRA1	ORPHA:64280
HP:0000752	Hyperactivity	8912	CACNA1H	ORPHA:64280
HP:0000752	Hyperactivity	8629	JRK	ORPHA:64280
HP:0000752	Hyperactivity	2566	GABRG2	ORPHA:64280
HP:0000752	Hyperactivity	2566	GABRG2	ORPHA:442835
HP:0000752	Hyperactivity	2566	GABRG2	ORPHA:1945
HP:0000752	Hyperactivity	26960	NBEA	OMIM:619157
HP:0000752	Hyperactivity	8367	H4C5	OMIM:619950
HP:0000752	Hyperactivity	1139	CHRNA7	ORPHA:199318
HP:0000752	Hyperactivity	1000	CDH2	OMIM:619957
HP:0000752	Hyperactivity	1000	CDH2	OMIM:618929
HP:0000752	Hyperactivity	1024	CDK8	OMIM:618748
HP:0000752	Hyperactivity	775	CACNA1C	OMIM:620029
HP:0000752	Hyperactivity	91801	ALKBH8	OMIM:618504
HP:0000752	Hyperactivity	7068	THRB	OMIM:274300
HP:0000752	Hyperactivity	7068	THRB	OMIM:188570
HP:0000752	Hyperactivity	118987	PDZD8	OMIM:620021
HP:0000752	Hyperactivity	64324	NSD1	ORPHA:821
HP:0000752	Hyperactivity	64324	NSD1	OMIM:117550
HP:0000752	Hyperactivity	29072	SETD2	ORPHA:821
HP:0000752	Hyperactivity	55209	SETD5	ORPHA:404440
HP:0000752	Hyperactivity	6687	SPG7	ORPHA:99013
HP:0000752	Hyperactivity	4072	EPCAM	ORPHA:144
HP:0000752	Hyperactivity	4292	MLH1	ORPHA:144
HP:0000752	Hyperactivity	5395	PMS2	ORPHA:144
HP:0000752	Hyperactivity	27030	MLH3	ORPHA:144
HP:0000752	Hyperactivity	22909	FAN1	ORPHA:144
HP:0000752	Hyperactivity	7048	TGFBR2	ORPHA:144
HP:0000752	Hyperactivity	5290	PIK3CA	ORPHA:144
HP:0000752	Hyperactivity	2956	MSH6	ORPHA:144
HP:0000752	Hyperactivity	5378	PMS1	ORPHA:144
HP:0000752	Hyperactivity	4436	MSH2	ORPHA:144
HP:0000752	Hyperactivity	49855	SCAPER	OMIM:618195
HP:0000752	Hyperactivity	4774	NFIA	ORPHA:401986
HP:0000752	Hyperactivity	116931	MED12L	OMIM:618872
HP:0000752	Hyperactivity	3199	HOXA2	ORPHA:83463
HP:0000752	Hyperactivity	9578	CDC42BPB	OMIM:619841
HP:0000752	Hyperactivity	613	BCR	ORPHA:261330
HP:0000752	Hyperactivity	1399	CRKL	ORPHA:261330
HP:0000752	Hyperactivity	5594	MAPK1	ORPHA:261330
HP:0000752	Hyperactivity	5594	MAPK1	OMIM:619087
HP:0000752	Hyperactivity	55790	CSGALNACT1	OMIM:618870
HP:0000752	Hyperactivity	64218	SEMA4A	ORPHA:440437
HP:0000752	Hyperactivity	657	BMPR1A	ORPHA:440437
HP:0000752	Hyperactivity	6224	RPS20	ORPHA:440437
HP:0000752	Hyperactivity	477	ATP1A2	OMIM:619605
HP:0000752	Hyperactivity	477	ATP1A2	ORPHA:442835
HP:0000752	Hyperactivity	51111	KMT5B	OMIM:617788
HP:0000752	Hyperactivity	80155	NAA15	OMIM:617787
HP:0000752	Hyperactivity	7532	YWHAG	OMIM:617665
HP:0000752	Hyperactivity	7532	YWHAG	ORPHA:442835
HP:0000752	Hyperactivity	5159	PDGFRB	OMIM:615007
HP:0000752	Hyperactivity	2314	FLII	ORPHA:819
HP:0000752	Hyperactivity	23096	IQSEC2	ORPHA:819
HP:0000752	Hyperactivity	10522	DEAF1	ORPHA:819
HP:0000752	Hyperactivity	10847	SRCAP	ORPHA:2044
HP:0000752	Hyperactivity	5689	PSMB1	OMIM:620038
HP:0000752	Hyperactivity	27102	EIF2AK1	OMIM:618878
HP:0000752	Hyperactivity	3781	KCNN2	OMIM:619725
HP:0000752	Hyperactivity	7086	TKT	ORPHA:488618
HP:0000752	Hyperactivity	7086	TKT	OMIM:617044
HP:0000752	Hyperactivity	55636	CHD7	ORPHA:138
HP:0000752	Hyperactivity	9723	SEMA3E	ORPHA:138
HP:0000752	Hyperactivity	7252	TSHB	ORPHA:90674
HP:0000752	Hyperactivity	6595	SMARCA2	OMIM:619293
HP:0000752	Hyperactivity	6595	SMARCA2	OMIM:601358
HP:0000752	Hyperactivity	6660	SOX5	ORPHA:313892
HP:0000752	Hyperactivity	57589	RIC1	OMIM:618761
HP:0000752	Hyperactivity	3190	HNRNPK	OMIM:616580
HP:0000752	Hyperactivity	347733	TUBB2B	ORPHA:300573
HP:0000752	Hyperactivity	347733	TUBB2B	ORPHA:467166
HP:0000752	Hyperactivity	51319	RSRC1	OMIM:618402
HP:0000752	Hyperactivity	412	STS	ORPHA:281090
HP:0000752	Hyperactivity	412	STS	ORPHA:461
HP:0000752	Hyperactivity	1009	CDH11	OMIM:619736
HP:0000752	Hyperactivity	3973	LHCGR	ORPHA:3000
HP:0000752	Hyperactivity	2626	GATA4	ORPHA:251071
HP:0000752	Hyperactivity	6899	TBX1	OMIM:188400
HP:0000752	Hyperactivity	6899	TBX1	ORPHA:1727
HP:0000752	Hyperactivity	6899	TBX1	ORPHA:567
HP:0000752	Hyperactivity	4763	NF1	ORPHA:363700
HP:0000752	Hyperactivity	833	CARS1	OMIM:618891
HP:0000752	Hyperactivity	23036	ZNF292	OMIM:619188
HP:0000752	Hyperactivity	57178	ZMIZ1	OMIM:618659
HP:0000752	Hyperactivity	28514	DLL1	ORPHA:93926
HP:0000752	Hyperactivity	28514	DLL1	ORPHA:93924
HP:0000752	Hyperactivity	28514	DLL1	ORPHA:93925
HP:0000752	Hyperactivity	28514	DLL1	OMIM:618709
HP:0000752	Hyperactivity	28514	DLL1	ORPHA:220386
HP:0000752	Hyperactivity	2253	FGF8	ORPHA:93926
HP:0000752	Hyperactivity	2253	FGF8	ORPHA:93924
HP:0000752	Hyperactivity	2253	FGF8	ORPHA:93925
HP:0000752	Hyperactivity	2253	FGF8	ORPHA:220386
HP:0000752	Hyperactivity	6496	SIX3	ORPHA:93926
HP:0000752	Hyperactivity	6496	SIX3	ORPHA:93924
HP:0000752	Hyperactivity	6496	SIX3	ORPHA:93925
HP:0000752	Hyperactivity	6496	SIX3	ORPHA:220386
HP:0000752	Hyperactivity	7050	TGIF1	ORPHA:93926
HP:0000752	Hyperactivity	7050	TGIF1	ORPHA:93924
HP:0000752	Hyperactivity	7050	TGIF1	ORPHA:93925
HP:0000752	Hyperactivity	7050	TGIF1	ORPHA:220386
HP:0000752	Hyperactivity	4838	NODAL	ORPHA:93926
HP:0000752	Hyperactivity	4838	NODAL	ORPHA:93924
HP:0000752	Hyperactivity	4838	NODAL	ORPHA:93925
HP:0000752	Hyperactivity	4838	NODAL	ORPHA:220386
HP:0000752	Hyperactivity	6469	SHH	ORPHA:93926
HP:0000752	Hyperactivity	6469	SHH	ORPHA:93924
HP:0000752	Hyperactivity	6469	SHH	ORPHA:93925
HP:0000752	Hyperactivity	6469	SHH	ORPHA:220386
HP:0000752	Hyperactivity	7546	ZIC2	ORPHA:93926
HP:0000752	Hyperactivity	7546	ZIC2	ORPHA:93924
HP:0000752	Hyperactivity	7546	ZIC2	ORPHA:93925
HP:0000752	Hyperactivity	7546	ZIC2	ORPHA:220386
HP:0000752	Hyperactivity	6491	STIL	ORPHA:93926
HP:0000752	Hyperactivity	6491	STIL	ORPHA:93924
HP:0000752	Hyperactivity	6491	STIL	ORPHA:93925
HP:0000752	Hyperactivity	6491	STIL	ORPHA:220386
HP:0000752	Hyperactivity	2619	GAS1	ORPHA:93926
HP:0000752	Hyperactivity	2619	GAS1	ORPHA:93924
HP:0000752	Hyperactivity	2619	GAS1	ORPHA:93925
HP:0000752	Hyperactivity	2619	GAS1	ORPHA:220386
HP:0000752	Hyperactivity	84976	DISP1	ORPHA:93926
HP:0000752	Hyperactivity	84976	DISP1	ORPHA:93924
HP:0000752	Hyperactivity	84976	DISP1	ORPHA:93925
HP:0000752	Hyperactivity	84976	DISP1	ORPHA:220386
HP:0000752	Hyperactivity	2736	GLI2	ORPHA:93926
HP:0000752	Hyperactivity	2736	GLI2	ORPHA:93924
HP:0000752	Hyperactivity	2736	GLI2	ORPHA:93925
HP:0000752	Hyperactivity	2736	GLI2	ORPHA:220386
HP:0000752	Hyperactivity	8928	FOXH1	ORPHA:93926
HP:0000752	Hyperactivity	8928	FOXH1	ORPHA:93924
HP:0000752	Hyperactivity	8928	FOXH1	ORPHA:93925
HP:0000752	Hyperactivity	8928	FOXH1	ORPHA:220386
HP:0000752	Hyperactivity	50937	CDON	ORPHA:93926
HP:0000752	Hyperactivity	50937	CDON	ORPHA:93924
HP:0000752	Hyperactivity	50937	CDON	ORPHA:93925
HP:0000752	Hyperactivity	50937	CDON	ORPHA:220386
HP:0000752	Hyperactivity	2260	FGFR1	ORPHA:93924
HP:0000752	Hyperactivity	2260	FGFR1	ORPHA:220386
HP:0000752	Hyperactivity	26057	ANKRD17	OMIM:619504
HP:0000752	Hyperactivity	23007	PLCH1	ORPHA:93925
HP:0000752	Hyperactivity	3737	KCNA2	ORPHA:442835
HP:0000752	Hyperactivity	8120	AP3B2	ORPHA:442835
HP:0000752	Hyperactivity	523	ATP6V1A	ORPHA:442835
HP:0000752	Hyperactivity	10991	SLC38A3	ORPHA:442835
HP:0000752	Hyperactivity	22906	TRAK1	ORPHA:442835
HP:0000752	Hyperactivity	1917	EEF1A2	ORPHA:442835
HP:0000752	Hyperactivity	2561	GABRB2	ORPHA:442835
HP:0000752	Hyperactivity	79876	UBA5	ORPHA:442835
HP:0000752	Hyperactivity	6328	SCN3A	ORPHA:442835
HP:0000752	Hyperactivity	6328	SCN3A	OMIM:617935
HP:0000752	Hyperactivity	2558	GABRA5	ORPHA:442835
HP:0000752	Hyperactivity	781	CACNA2D1	ORPHA:442835
HP:0000752	Hyperactivity	2906	GRIN2D	ORPHA:442835
HP:0000752	Hyperactivity	116150	NUS1	ORPHA:442835
HP:0000752	Hyperactivity	10659	CELF2	ORPHA:442835
HP:0000752	Hyperactivity	774	CACNA1B	ORPHA:442835
HP:0000752	Hyperactivity	1213	CLTC	ORPHA:442835
HP:0000752	Hyperactivity	1213	CLTC	OMIM:617854
HP:0000752	Hyperactivity	51741	WWOX	ORPHA:442835
HP:0000752	Hyperactivity	23334	SZT2	ORPHA:442835
HP:0000752	Hyperactivity	51412	ACTL6B	ORPHA:442835
HP:0000752	Hyperactivity	348980	HCN1	ORPHA:442835
HP:0000752	Hyperactivity	348980	HCN1	OMIM:615871
HP:0000752	Hyperactivity	6506	SLC1A2	ORPHA:442835
HP:0000752	Hyperactivity	8867	SYNJ1	ORPHA:442835
HP:0000752	Hyperactivity	2258	FGF13	ORPHA:442835
HP:0000752	Hyperactivity	3745	KCNB1	ORPHA:442835
HP:0000752	Hyperactivity	284111	SLC13A5	ORPHA:442835
HP:0000752	Hyperactivity	25977	NECAP1	ORPHA:442835
HP:0000752	Hyperactivity	16	AARS1	ORPHA:442835
HP:0000752	Hyperactivity	6334	SCN8A	ORPHA:442835
HP:0000752	Hyperactivity	6334	SCN8A	OMIM:614306
HP:0000752	Hyperactivity	9568	GABBR2	ORPHA:442835
HP:0000752	Hyperactivity	2555	GABRA2	ORPHA:442835
HP:0000752	Hyperactivity	55152	DALRD3	ORPHA:442835
HP:0000752	Hyperactivity	26999	CYFIP2	ORPHA:442835
HP:0000752	Hyperactivity	4915	NTRK2	ORPHA:442835
HP:0000752	Hyperactivity	25973	PARS2	ORPHA:442835
HP:0000752	Hyperactivity	23097	CDK19	ORPHA:442835
HP:0000752	Hyperactivity	64801	ARV1	ORPHA:442835
HP:0000752	Hyperactivity	79947	DHDDS	ORPHA:442835
HP:0000752	Hyperactivity	2257	FGF12	ORPHA:442835
HP:0000752	Hyperactivity	5530	PPP3CA	ORPHA:442835
HP:0000752	Hyperactivity	478	ATP1A3	ORPHA:442835
HP:0000752	Hyperactivity	10528	NOP56	ORPHA:276198
HP:0000752	Hyperactivity	3981	LIG4	ORPHA:235
HP:0000752	Hyperactivity	54888	NSUN2	ORPHA:235
HP:0000752	Hyperactivity	4953	ODC1	OMIM:619075
HP:0000752	Hyperactivity	4953	ODC1	ORPHA:544488
HP:0000752	Hyperactivity	2746	GLUD1	ORPHA:35878
HP:0000752	Hyperactivity	30011	SH3KBP1	OMIM:300310
HP:0000752	Hyperactivity	84138	SLC7A6OS	OMIM:619191
HP:0000752	Hyperactivity	7025	NR2F1	ORPHA:401777
HP:0000752	Hyperactivity	8493	PPM1D	OMIM:617450
HP:0000752	Hyperactivity	26038	CHD5	OMIM:619873
HP:0000752	Hyperactivity	29081	METTL5	OMIM:618665
HP:0000752	Hyperactivity	55773	TBC1D23	OMIM:617695
HP:0000752	Hyperactivity	1593	CYP27A1	ORPHA:909
HP:0000752	Hyperactivity	9354	UBE4A	OMIM:619639
HP:0000752	Hyperactivity	6804	STX1A	ORPHA:904
HP:0000752	Hyperactivity	7461	CLIP2	ORPHA:904
HP:0000752	Hyperactivity	84277	DNAJC30	ORPHA:904
HP:0000752	Hyperactivity	8468	FKBP6	ORPHA:904
HP:0000752	Hyperactivity	5982	RFC2	ORPHA:904
HP:0000752	Hyperactivity	2969	GTF2I	ORPHA:904
HP:0000752	Hyperactivity	3984	LIMK1	ORPHA:904
HP:0000752	Hyperactivity	9569	GTF2IRD1	ORPHA:904
HP:0000752	Hyperactivity	155382	VPS37D	ORPHA:904
HP:0000752	Hyperactivity	155368	METTL27	ORPHA:904
HP:0000752	Hyperactivity	114049	BUD23	ORPHA:904
HP:0000752	Hyperactivity	7458	EIF4H	ORPHA:904
HP:0000752	Hyperactivity	84163	GTF2IRD2	ORPHA:904
HP:0000752	Hyperactivity	9275	BCL7B	ORPHA:904
HP:0000752	Hyperactivity	26608	TBL2	ORPHA:904
HP:0000752	Hyperactivity	653361	NCF1	ORPHA:904
HP:0000752	Hyperactivity	135886	TMEM270	ORPHA:904
HP:0000752	Hyperactivity	51085	MLXIPL	ORPHA:904
HP:0000752	Hyperactivity	51085	MLXIPL	OMIM:194050
HP:0000752	Hyperactivity	9031	BAZ1B	ORPHA:904
HP:0000752	Hyperactivity	2006	ELN	ORPHA:904
HP:0000752	Hyperactivity	2006	ELN	OMIM:194050
HP:0000752	Hyperactivity	54499	TMCO1	OMIM:213980
HP:0000752	Hyperactivity	22859	ADGRL1	OMIM:620065
HP:0000752	Hyperactivity	55719	SLF2	OMIM:620184
HP:0000752	Hyperactivity	23137	SMC5	OMIM:620185
HP:0000752	Hyperactivity	8517	IKBKG	ORPHA:464
HP:0000752	Hyperactivity	10236	HNRNPR	OMIM:620073
HP:0000752	Hyperactivity	26137	ZBTB20	OMIM:259050
HP:0000752	Hyperactivity	2312	FLG	ORPHA:461
HP:0000752	Hyperactivity	8314	BAP1	OMIM:619762
HP:0000752	Hyperactivity	7750	ZMYM2	OMIM:619522
HP:0000752	Hyperactivity	27086	FOXP1	ORPHA:391372
HP:0000752	Hyperactivity	27086	FOXP1	OMIM:613670
HP:0000752	Hyperactivity	3481	IGF2	ORPHA:397590
HP:0000752	Hyperactivity	1028	CDKN1C	ORPHA:397590
HP:0000752	Hyperactivity	5324	PLAG1	ORPHA:397590
HP:0000752	Hyperactivity	8091	HMGA2	ORPHA:397590
HP:0000752	Hyperactivity	200424	TET3	OMIM:618798
HP:0000752	Hyperactivity	5422	POLA1	ORPHA:163976
HP:0000752	Hyperactivity	5422	POLA1	OMIM:301030
HP:0000752	Hyperactivity	51322	WAC	ORPHA:284169
HP:0000752	Hyperactivity	51322	WAC	OMIM:616708
HP:0000752	Hyperactivity	51322	WAC	ORPHA:466950
HP:0000752	Hyperactivity	55120	FANCL	OMIM:614083
HP:0000752	Hyperactivity	9922	IQSEC1	OMIM:618687
HP:0000752	Hyperactivity	57479	PRR12	OMIM:619539
HP:0000752	Hyperactivity	9928	KIF14	OMIM:617914
HP:0000752	Hyperactivity	1107	CHD3	OMIM:618205
HP:0000752	Hyperactivity	27286	SRPX2	ORPHA:1945
HP:0000752	Hyperactivity	3339	HSPG2	ORPHA:800
HP:0000752	Hyperactivity	2776	GNAQ	ORPHA:3205
HP:0000752	Hyperactivity	55023	PHIP	ORPHA:589905
HP:0000752	Hyperactivity	55023	PHIP	OMIM:617991
HP:0000752	Hyperactivity	29123	ANKRD11	OMIM:148050
HP:0000752	Hyperactivity	5587	PRKD1	OMIM:617364
HP:0000752	Hyperactivity	2245	FGD1	ORPHA:915
HP:0000752	Hyperactivity	2245	FGD1	OMIM:305400
HP:0000752	Hyperactivity	1642	DDB1	OMIM:619426
HP:0000752	Hyperactivity	63895	PIEZO2	ORPHA:2461
HP:0000752	Hyperactivity	1801	DPH1	ORPHA:459061
HP:0000752	Hyperactivity	3720	JARID2	OMIM:620098
HP:0000752	Hyperactivity	6492	SIM1	ORPHA:369873
HP:0000752	Hyperactivity	6909	TBX2	OMIM:618223
HP:0000752	Hyperactivity	23013	SPEN	OMIM:619312
HP:0000752	Hyperactivity	30000	TNPO2	OMIM:619556
HP:0000752	Hyperactivity	123606	NIPA1	ORPHA:261183
HP:0000752	Hyperactivity	7283	TUBG1	ORPHA:261183
HP:0000752	Hyperactivity	81614	NIPA2	ORPHA:261183
HP:0000752	Hyperactivity	57102	C12orf4	OMIM:618221
HP:0000752	Hyperactivity	3067	HDC	OMIM:137580
HP:0000752	Hyperactivity	114798	SLITRK1	OMIM:137580
HP:0000752	Hyperactivity	26115	TANC2	OMIM:618906
HP:0000752	Hyperactivity	7681	MKRN3	OMIM:176270
HP:0000752	Hyperactivity	3653	IPW	OMIM:176270
HP:0000752	Hyperactivity	54551	MAGEL2	OMIM:176270
HP:0000752	Hyperactivity	791114	PWRN1	OMIM:176270
HP:0000752	Hyperactivity	100033413	SNORD116-1	OMIM:176270
HP:0000752	Hyperactivity	145624	PWAR1	OMIM:176270
HP:0000752	Hyperactivity	23742	NPAP1	OMIM:176270
HP:0000752	Hyperactivity	338433	SNORD115-1	OMIM:176270
HP:0000752	Hyperactivity	5575	PRKAR1B	OMIM:619680
HP:0000752	Hyperactivity	5621	PRNP	ORPHA:280397
HP:0000752	Hyperactivity	2581	GALC	ORPHA:206443
HP:0000752	Hyperactivity	5515	PPP2CA	OMIM:618354
HP:0000752	Hyperactivity	56521	DNAJC12	OMIM:617384
HP:0000752	Hyperactivity	55262	TRAPPC14	OMIM:618351
HP:0000752	Hyperactivity	23030	KDM4B	OMIM:619320
HP:0000752	Hyperactivity	473	RERE	OMIM:616975
HP:0000752	Hyperactivity	473	RERE	ORPHA:494344
HP:0000752	Hyperactivity	11151	CORO1A	OMIM:615401
HP:0000752	Hyperactivity	2782	GNB1	OMIM:616973
HP:0000752	Hyperactivity	23043	TNIK	OMIM:617028
HP:0000752	Hyperactivity	55784	MCTP2	ORPHA:1596
HP:0000752	Hyperactivity	51114	ZDHHC9	ORPHA:776
HP:0000752	Hyperactivity	65109	UPF3B	ORPHA:776
HP:0000752	Hyperactivity	4952	OCRL	ORPHA:534
HP:0000752	Hyperactivity	4131	MAP1B	OMIM:618918
HP:0000752	Hyperactivity	84679	SLC9A7	OMIM:301024
HP:0000752	Hyperactivity	2592	GALT	ORPHA:79239
HP:0000752	Hyperactivity	1741	DLG3	OMIM:300850
HP:0000752	Hyperactivity	7846	TUBA1A	ORPHA:467166
HP:0000752	Hyperactivity	10381	TUBB3	ORPHA:467166
HP:0000752	Hyperactivity	6609	SMPD1	ORPHA:77293
HP:0000752	Hyperactivity	57551	TAOK1	OMIM:619575
HP:0000752	Hyperactivity	63035	BCORL1	OMIM:301029
HP:0000752	Hyperactivity	9969	MED13	OMIM:618009
HP:0000752	Hyperactivity	1312	COMT	ORPHA:567
HP:0000752	Hyperactivity	221037	JMJD1C	ORPHA:567
HP:0000752	Hyperactivity	2812	GP1BB	ORPHA:567
HP:0000752	Hyperactivity	6239	RREB1	ORPHA:567
HP:0000752	Hyperactivity	7290	HIRA	ORPHA:567
HP:0000752	Hyperactivity	9632	SEC24C	ORPHA:567
HP:0000752	Hyperactivity	7353	UFD1	ORPHA:567
HP:0000752	Hyperactivity	421	ARVCF	ORPHA:567
HP:0000752	Hyperactivity	5582	PRKCG	OMIM:605361
HP:0000752	Hyperactivity	51185	CRBN	OMIM:607417
HP:0000752	Hyperactivity	2898	GRIK2	OMIM:619580
HP:0000752	Hyperactivity	1137	CHRNA4	ORPHA:98784
HP:0000752	Hyperactivity	1135	CHRNA2	ORPHA:98784
HP:0000752	Hyperactivity	57010	CABP4	ORPHA:98784
HP:0000752	Hyperactivity	1141	CHRNB2	ORPHA:98784
HP:0000752	Hyperactivity	57582	KCNT1	ORPHA:98784
HP:0000752	Hyperactivity	1392	CRH	ORPHA:98784
HP:0000752	Hyperactivity	9681	DEPDC5	ORPHA:98784
HP:0000752	Hyperactivity	7703	PCGF2	OMIM:618371
HP:0000752	Hyperactivity	1781	DYNC1I2	OMIM:618492
HP:0000752	Hyperactivity	6907	TBL1X	OMIM:301033
HP:0000752	Hyperactivity	10524	KAT5	OMIM:619103
HP:0000752	Hyperactivity	79576	NKAP	OMIM:301039
HP:0000752	Hyperactivity	3188	HNRNPH2	OMIM:300986
HP:0000752	Hyperactivity	121278	TPH2	OMIM:613003
HP:0000752	Hyperactivity	51729	WBP11	OMIM:619227
HP:0000752	Hyperactivity	55186	SLC25A36	OMIM:620211
HP:0000752	Hyperactivity	2313	FLI1	ORPHA:2308
HP:0000752	Hyperactivity	7074	TIAM1	OMIM:619908
HP:0000752	Hyperactivity	23476	BRD4	ORPHA:199
HP:0000752	Hyperactivity	9126	SMC3	ORPHA:199
HP:0000752	Hyperactivity	8243	SMC1A	ORPHA:199
HP:0000752	Hyperactivity	8243	SMC1A	ORPHA:220386
HP:0000752	Hyperactivity	25836	NIPBL	ORPHA:199
HP:0000752	Hyperactivity	55869	HDAC8	ORPHA:199
HP:0000752	Hyperactivity	5885	RAD21	ORPHA:199
HP:0000752	Hyperactivity	9757	KMT2B	ORPHA:589618
HP:0000752	Hyperactivity	9757	KMT2B	OMIM:619934
HP:0000752	Hyperactivity	7874	USP7	ORPHA:500055
HP:0000752	Hyperactivity	139411	PTCHD1	OMIM:300830
HP:0000752	Hyperactivity	7204	TRIO	OMIM:618825
HP:0000752	Hyperactivity	7204	TRIO	OMIM:617061
HP:0000752	Hyperactivity	7204	TRIO	ORPHA:476126
HP:0000752	Hyperactivity	55526	DHTKD1	OMIM:204750
HP:0000752	Hyperactivity	4659	PPP1R12A	OMIM:618820
HP:0000752	Hyperactivity	3839	KPNA3	OMIM:620106
HP:0000752	Hyperactivity	1457	CSNK2A1	OMIM:617062
HP:0000752	Hyperactivity	6872	TAF1	OMIM:300966
HP:0000752	Hyperactivity	8567	MADD	OMIM:619005
HP:0000752	Hyperactivity	22871	NLGN1	OMIM:618830
HP:0000752	Hyperactivity	6472	SHMT2	OMIM:619121
HP:0000752	Hyperactivity	23112	TNRC6B	OMIM:619243
HP:0000752	Hyperactivity	81562	LMAN2L	OMIM:617863
HP:0000752	Hyperactivity	51473	DCDC2	ORPHA:84081
HP:0000752	Hyperactivity	91147	TMEM67	ORPHA:84081
HP:0000752	Hyperactivity	259266	ASPM	OMIM:608716
HP:0000752	Hyperactivity	2177	FANCD2	OMIM:227646
HP:0000752	Hyperactivity	3739	KCNA4	OMIM:618284
HP:0000752	Hyperactivity	10020	GNE	OMIM:269921
HP:0000752	Hyperactivity	10020	GNE	ORPHA:3166
HP:0000752	Hyperactivity	4781	NFIB	OMIM:618286
HP:0000752	Hyperactivity	51780	KDM3B	OMIM:618846
HP:0000752	Hyperactivity	51317	PHF21A	OMIM:618725
HP:0000752	Hyperactivity	5116	PCNT	ORPHA:2637
HP:0000752	Hyperactivity	203190	LGI3	OMIM:620007
HP:0000752	Hyperactivity	4693	NDP	ORPHA:649
HP:0000752	Hyperactivity	11011	TLK2	OMIM:618050
HP:0000752	Hyperactivity	1678	TIMM8A	ORPHA:52368
HP:0000752	Hyperactivity	129285	PPP1R21	OMIM:619383
HP:0000752	Hyperactivity	55553	SOX6	OMIM:618971
HP:0000752	Hyperactivity	27161	AGO2	OMIM:619149
HP:0000752	Hyperactivity	3832	KIF11	OMIM:152950
HP:0000752	Hyperactivity	2261	FGFR3	OMIM:602849
HP:0000752	Hyperactivity	84148	KAT8	OMIM:618974
HP:0000752	Hyperactivity	64682	ANAPC1	ORPHA:221008
HP:0008765	Auditory hallucinations	9896	FIG4	ORPHA:208441
HP:0008765	Auditory hallucinations	1436	CSF1R	OMIM:221820
HP:0008765	Auditory hallucinations	5649	RELN	ORPHA:101046
HP:0008765	Auditory hallucinations	9211	LGI1	ORPHA:101046
HP:0008765	Auditory hallucinations	9681	DEPDC5	ORPHA:101046
HP:0008765	Auditory hallucinations	9681	DEPDC5	ORPHA:98820
HP:0008765	Auditory hallucinations	80331	DNAJC5	OMIM:162350
HP:0008765	Auditory hallucinations	5159	PDGFRB	OMIM:616592
HP:0008765	Auditory hallucinations	387119	CEP85L	OMIM:618873
HP:0008765	Auditory hallucinations	6651	SON	ORPHA:500150
HP:0008765	Auditory hallucinations	54982	CLN6	OMIM:204300
HP:0008765	Auditory hallucinations	25974	MMACHC	ORPHA:79282
HP:0008765	Auditory hallucinations	773	CACNA1A	OMIM:141500
HP:0008765	Auditory hallucinations	1000	CDH2	OMIM:618929
HP:0008765	Auditory hallucinations	7276	TTR	OMIM:105210
HP:0008765	Auditory hallucinations	8131	NPRL3	ORPHA:98820
HP:0008765	Auditory hallucinations	10641	NPRL2	ORPHA:98820
HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	23230	VPS13A	ORPHA:2388
HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	23230	VPS13A	OMIM:200150
HP:0008768	Inappropriate sexual behavior	2778	GNAS	ORPHA:562
HP:0008768	Inappropriate sexual behavior	4137	MAPT	OMIM:600274
HP:0008768	Inappropriate sexual behavior	5663	PSEN1	OMIM:600274
HP:0008768	Inappropriate sexual behavior	540	ATP7B	ORPHA:905
HP:0008768	Inappropriate sexual behavior	6999	TDO2	OMIM:600627
HP:0008768	Inappropriate sexual behavior	2896	GRN	OMIM:607485
HP:0000338	Hypomimic face	291	SLC25A4	ORPHA:254892
HP:0000338	Hypomimic face	5428	POLG	ORPHA:254892
HP:0000338	Hypomimic face	56652	TWNK	ORPHA:254892
HP:0000338	Hypomimic face	11232	POLG2	ORPHA:254892
HP:0000338	Hypomimic face	50484	RRM2B	ORPHA:254892
HP:0000338	Hypomimic face	2512	FTL	OMIM:606159
HP:0000338	Hypomimic face	2512	FTL	ORPHA:157846
HP:0000338	Hypomimic face	8398	PLA2G6	ORPHA:199351
HP:0000338	Hypomimic face	8398	PLA2G6	OMIM:612953
HP:0000338	Hypomimic face	9895	TECPR2	ORPHA:320385
HP:0000338	Hypomimic face	9895	TECPR2	OMIM:615031
HP:0000338	Hypomimic face	10159	ATP6AP2	OMIM:300911
HP:0000338	Hypomimic face	10159	ATP6AP2	ORPHA:93952
HP:0000338	Hypomimic face	10159	ATP6AP2	OMIM:300423
HP:0000338	Hypomimic face	6571	SLC18A2	OMIM:618049
HP:0000338	Hypomimic face	6571	SLC18A2	ORPHA:352649
HP:0000338	Hypomimic face	8506	CNTNAP1	OMIM:618186
HP:0000338	Hypomimic face	23516	SLC39A14	OMIM:617013
HP:0000338	Hypomimic face	23516	SLC39A14	ORPHA:521406
HP:0000338	Hypomimic face	23259	DDHD2	OMIM:615033
HP:0000338	Hypomimic face	55532	SLC30A10	ORPHA:309854
HP:0000338	Hypomimic face	58494	JAM2	OMIM:618824
HP:0000338	Hypomimic face	1213	CLTC	OMIM:617854
HP:0000338	Hypomimic face	6531	SLC6A3	OMIM:613135
HP:0000338	Hypomimic face	6531	SLC6A3	ORPHA:238455
HP:0000338	Hypomimic face	2629	GBA1	ORPHA:411602
HP:0000338	Hypomimic face	23317	DNAJC13	ORPHA:411602
HP:0000338	Hypomimic face	1981	EIF4G1	ORPHA:411602
HP:0000338	Hypomimic face	55737	VPS35	ORPHA:411602
HP:0000338	Hypomimic face	120892	LRRK2	ORPHA:411602
HP:0000338	Hypomimic face	26058	GIGYF2	ORPHA:411602
HP:0000338	Hypomimic face	6622	SNCA	ORPHA:411602
HP:0000338	Hypomimic face	6622	SNCA	ORPHA:171695
HP:0000338	Hypomimic face	6697	SPR	ORPHA:70594
HP:0000338	Hypomimic face	478	ATP1A3	OMIM:128235
HP:0000338	Hypomimic face	478	ATP1A3	ORPHA:71517
HP:0000338	Hypomimic face	10907	TXNL4A	OMIM:608572
HP:0000338	Hypomimic face	9829	DNAJC6	ORPHA:391411
HP:0000338	Hypomimic face	9829	DNAJC6	OMIM:615528
HP:0000338	Hypomimic face	5420	PODXL	ORPHA:391411
HP:0000338	Hypomimic face	8867	SYNJ1	ORPHA:391411
HP:0000338	Hypomimic face	10935	PRDX3	OMIM:619862
HP:0000338	Hypomimic face	101929726	MYMX	OMIM:619941
HP:0000338	Hypomimic face	25793	FBXO7	ORPHA:171695
HP:0000338	Hypomimic face	25793	FBXO7	OMIM:260300
HP:0000338	Hypomimic face	23400	ATP13A2	ORPHA:306674
HP:0000338	Hypomimic face	51305	KCNK9	ORPHA:166108
HP:0000338	Hypomimic face	55753	OGDHL	OMIM:619701
HP:0000338	Hypomimic face	9373	PLAA	OMIM:617527
HP:0000338	Hypomimic face	54862	CC2D1A	OMIM:608443
HP:0008771	Aplasia/Hypoplasia of the ear	5290	PIK3CA	ORPHA:276280
HP:0008771	Aplasia/Hypoplasia of the ear	23394	ADNP	ORPHA:404448
HP:0008771	Aplasia/Hypoplasia of the ear	23019	CNOT1	OMIM:618500
HP:0008771	Aplasia/Hypoplasia of the ear	2138	EYA1	OMIM:113650
HP:0008771	Aplasia/Hypoplasia of the ear	2138	EYA1	OMIM:602588
HP:0008771	Aplasia/Hypoplasia of the ear	6495	SIX1	OMIM:113650
HP:0008771	Aplasia/Hypoplasia of the ear	5339	PLEC	ORPHA:158684
HP:0008771	Aplasia/Hypoplasia of the ear	5339	PLEC	OMIM:612138
HP:0008771	Aplasia/Hypoplasia of the ear	3691	ITGB4	ORPHA:158684
HP:0008771	Aplasia/Hypoplasia of the ear	2263	FGFR2	OMIM:149730
HP:0008771	Aplasia/Hypoplasia of the ear	2263	FGFR2	OMIM:101400
HP:0008771	Aplasia/Hypoplasia of the ear	2263	FGFR2	ORPHA:2363
HP:0008771	Aplasia/Hypoplasia of the ear	2263	FGFR2	ORPHA:794
HP:0008771	Aplasia/Hypoplasia of the ear	2629	GBA1	OMIM:608013
HP:0008771	Aplasia/Hypoplasia of the ear	51099	ABHD5	OMIM:275630
HP:0008771	Aplasia/Hypoplasia of the ear	4784	NFIX	ORPHA:447980
HP:0008771	Aplasia/Hypoplasia of the ear	51506	UFC1	OMIM:618076
HP:0008771	Aplasia/Hypoplasia of the ear	55788	LMBRD1	OMIM:277380
HP:0008771	Aplasia/Hypoplasia of the ear	6595	SMARCA2	ORPHA:2728
HP:0008771	Aplasia/Hypoplasia of the ear	55636	CHD7	ORPHA:138
HP:0008771	Aplasia/Hypoplasia of the ear	55636	CHD7	OMIM:214800
HP:0008771	Aplasia/Hypoplasia of the ear	9723	SEMA3E	ORPHA:138
HP:0008771	Aplasia/Hypoplasia of the ear	9382	COG1	OMIM:611209
HP:0008771	Aplasia/Hypoplasia of the ear	9382	COG1	ORPHA:263508
HP:0008771	Aplasia/Hypoplasia of the ear	2188	FANCF	OMIM:603467
HP:0008771	Aplasia/Hypoplasia of the ear	56992	KIF15	ORPHA:261323
HP:0008771	Aplasia/Hypoplasia of the ear	57589	RIC1	OMIM:618761
HP:0008771	Aplasia/Hypoplasia of the ear	3190	HNRNPK	OMIM:616580
HP:0008771	Aplasia/Hypoplasia of the ear	9739	SETD1A	OMIM:619056
HP:0008771	Aplasia/Hypoplasia of the ear	80204	FBXO11	OMIM:618089
HP:0008771	Aplasia/Hypoplasia of the ear	9469	CHST3	OMIM:143095
HP:0008771	Aplasia/Hypoplasia of the ear	9469	CHST3	OMIM:245600
HP:0008771	Aplasia/Hypoplasia of the ear	815	CAMK2A	OMIM:617798
HP:0008771	Aplasia/Hypoplasia of the ear	284252	KCTD1	ORPHA:2036
HP:0008771	Aplasia/Hypoplasia of the ear	284252	KCTD1	OMIM:181270
HP:0008771	Aplasia/Hypoplasia of the ear	7020	TFAP2A	OMIM:113620
HP:0008771	Aplasia/Hypoplasia of the ear	10815	CPLX1	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	54872	PIGG	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	7469	NELFA	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	1487	CTBP1	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	3954	LETM1	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	7468	NSD2	ORPHA:280
HP:0008771	Aplasia/Hypoplasia of the ear	4174	MCM5	OMIM:617564
HP:0008771	Aplasia/Hypoplasia of the ear	51199	NIN	OMIM:614851
HP:0008771	Aplasia/Hypoplasia of the ear	51199	NIN	ORPHA:319675
HP:0008771	Aplasia/Hypoplasia of the ear	7291	TWIST1	OMIM:101400
HP:0008771	Aplasia/Hypoplasia of the ear	7291	TWIST1	ORPHA:794
HP:0008771	Aplasia/Hypoplasia of the ear	7291	TWIST1	OMIM:617746
HP:0008771	Aplasia/Hypoplasia of the ear	8642	DCHS1	OMIM:601390
HP:0008771	Aplasia/Hypoplasia of the ear	8642	DCHS1	ORPHA:314679
HP:0008771	Aplasia/Hypoplasia of the ear	175	AGA	ORPHA:93
HP:0008771	Aplasia/Hypoplasia of the ear	8241	RBM10	OMIM:311900
HP:0008771	Aplasia/Hypoplasia of the ear	6234	RPS28	OMIM:606164
HP:0008771	Aplasia/Hypoplasia of the ear	6234	RPS28	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	26038	CHD5	OMIM:619873
HP:0008771	Aplasia/Hypoplasia of the ear	79633	FAT4	OMIM:616006
HP:0008771	Aplasia/Hypoplasia of the ear	79633	FAT4	ORPHA:314679
HP:0008771	Aplasia/Hypoplasia of the ear	79633	FAT4	OMIM:615546
HP:0008771	Aplasia/Hypoplasia of the ear	1909	EDNRA	OMIM:616367
HP:0008771	Aplasia/Hypoplasia of the ear	5590	PRKCZ	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	2563	GABRD	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	23013	SPEN	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	8510	MMP23B	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	7798	LUZP1	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	6497	SKI	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	10630	PDPN	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	3339	HSPG2	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	10277	UBE4B	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	8514	KCNAB2	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	473	RERE	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	63976	PRDM16	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	54897	CASZ1	ORPHA:1606
HP:0008771	Aplasia/Hypoplasia of the ear	8085	KMT2D	OMIM:620186
HP:0008771	Aplasia/Hypoplasia of the ear	55719	SLF2	OMIM:620184
HP:0008771	Aplasia/Hypoplasia of the ear	2255	FGF10	OMIM:620193
HP:0008771	Aplasia/Hypoplasia of the ear	2255	FGF10	ORPHA:2363
HP:0008771	Aplasia/Hypoplasia of the ear	2261	FGFR3	OMIM:620192
HP:0008771	Aplasia/Hypoplasia of the ear	2261	FGFR3	ORPHA:2363
HP:0008771	Aplasia/Hypoplasia of the ear	2261	FGFR3	ORPHA:794
HP:0008771	Aplasia/Hypoplasia of the ear	4094	MAF	ORPHA:1272
HP:0008771	Aplasia/Hypoplasia of the ear	4094	MAF	OMIM:601088
HP:0008771	Aplasia/Hypoplasia of the ear	4089	SMAD4	OMIM:139210
HP:0008771	Aplasia/Hypoplasia of the ear	7750	ZMYM2	OMIM:619522
HP:0008771	Aplasia/Hypoplasia of the ear	51339	DACT1	OMIM:617466
HP:0008771	Aplasia/Hypoplasia of the ear	51339	DACT1	ORPHA:857
HP:0008771	Aplasia/Hypoplasia of the ear	81887	LAS1L	ORPHA:3459
HP:0008771	Aplasia/Hypoplasia of the ear	55869	HDAC8	ORPHA:3459
HP:0008771	Aplasia/Hypoplasia of the ear	5422	POLA1	ORPHA:163976
HP:0008771	Aplasia/Hypoplasia of the ear	5422	POLA1	OMIM:301030
HP:0008771	Aplasia/Hypoplasia of the ear	388015	RTL1	ORPHA:96334
HP:0008771	Aplasia/Hypoplasia of the ear	8788	DLK1	ORPHA:96334
HP:0008771	Aplasia/Hypoplasia of the ear	55384	MEG3	ORPHA:96334
HP:0008771	Aplasia/Hypoplasia of the ear	6231	RPS26	OMIM:613309
HP:0008771	Aplasia/Hypoplasia of the ear	6231	RPS26	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	55343	SLC35C1	ORPHA:99843
HP:0008771	Aplasia/Hypoplasia of the ear	4123	MAN2C1	OMIM:619775
HP:0008771	Aplasia/Hypoplasia of the ear	6949	TCOF1	OMIM:154500
HP:0008771	Aplasia/Hypoplasia of the ear	6949	TCOF1	ORPHA:861
HP:0008771	Aplasia/Hypoplasia of the ear	9652	SKIC3	OMIM:222470
HP:0008771	Aplasia/Hypoplasia of the ear	546	ATRX	OMIM:309580
HP:0008771	Aplasia/Hypoplasia of the ear	546	ATRX	OMIM:301040
HP:0008771	Aplasia/Hypoplasia of the ear	729920	CRPPA	OMIM:614643
HP:0008771	Aplasia/Hypoplasia of the ear	4488	MSX2	OMIM:168550
HP:0008771	Aplasia/Hypoplasia of the ear	9896	FIG4	OMIM:216340
HP:0008771	Aplasia/Hypoplasia of the ear	1723	DHODH	ORPHA:246
HP:0008771	Aplasia/Hypoplasia of the ear	10262	SF3B4	ORPHA:245
HP:0008771	Aplasia/Hypoplasia of the ear	10262	SF3B4	ORPHA:1788
HP:0008771	Aplasia/Hypoplasia of the ear	6135	RPL11	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6138	RPL15	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6229	RPS24	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6125	RPL5	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6204	RPS10	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6224	RPS20	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6165	RPL35A	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	2623	GATA1	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	2623	GATA1	OMIM:190685
HP:0008771	Aplasia/Hypoplasia of the ear	6223	RPS19	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6232	RPS27	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	11224	RPL35	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6160	RPL31	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6218	RPS17	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6201	RPS7	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6155	RPL27	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6154	RPL26	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6210	RPS15A	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	90121	TSR2	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	90121	TSR2	OMIM:300946
HP:0008771	Aplasia/Hypoplasia of the ear	6141	RPL18	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	6235	RPS29	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	51816	ADA2	ORPHA:124
HP:0008771	Aplasia/Hypoplasia of the ear	54101	RIPK4	OMIM:263650
HP:0008771	Aplasia/Hypoplasia of the ear	9533	POLR1C	OMIM:248390
HP:0008771	Aplasia/Hypoplasia of the ear	9533	POLR1C	ORPHA:861
HP:0008771	Aplasia/Hypoplasia of the ear	51025	PAM16	OMIM:613320
HP:0008771	Aplasia/Hypoplasia of the ear	27152	INTU	OMIM:617925
HP:0008771	Aplasia/Hypoplasia of the ear	5426	POLE	OMIM:618336
HP:0008771	Aplasia/Hypoplasia of the ear	2737	GLI3	ORPHA:672
HP:0008771	Aplasia/Hypoplasia of the ear	2737	GLI3	OMIM:146510
HP:0008771	Aplasia/Hypoplasia of the ear	10735	STAG2	OMIM:301043
HP:0008771	Aplasia/Hypoplasia of the ear	10735	STAG2	OMIM:301022
HP:0008771	Aplasia/Hypoplasia of the ear	6477	SIAH1	OMIM:619314
HP:0008771	Aplasia/Hypoplasia of the ear	100151683	RNU4ATAC	OMIM:210710
HP:0008771	Aplasia/Hypoplasia of the ear	89970	RSPRY1	OMIM:616723
HP:0008771	Aplasia/Hypoplasia of the ear	8626	TP63	OMIM:604292
HP:0008771	Aplasia/Hypoplasia of the ear	7473	WNT3	ORPHA:3301
HP:0008771	Aplasia/Hypoplasia of the ear	340419	RSPO2	ORPHA:3301
HP:0008771	Aplasia/Hypoplasia of the ear	6299	SALL1	OMIM:107480
HP:0008771	Aplasia/Hypoplasia of the ear	6299	SALL1	ORPHA:857
HP:0008771	Aplasia/Hypoplasia of the ear	650	BMP2	ORPHA:261295
HP:0008771	Aplasia/Hypoplasia of the ear	6492	SIM1	ORPHA:171829
HP:0008771	Aplasia/Hypoplasia of the ear	3313	HSPA9	OMIM:616854
HP:0008771	Aplasia/Hypoplasia of the ear	3097	HIVEP2	OMIM:616977
HP:0008771	Aplasia/Hypoplasia of the ear	10982	MAPRE2	OMIM:616734
HP:0008771	Aplasia/Hypoplasia of the ear	29954	POMT2	OMIM:236670
HP:0008771	Aplasia/Hypoplasia of the ear	9215	LARGE1	OMIM:236670
HP:0008771	Aplasia/Hypoplasia of the ear	79147	FKRP	OMIM:236670
HP:0008771	Aplasia/Hypoplasia of the ear	10585	POMT1	OMIM:236670
HP:0008771	Aplasia/Hypoplasia of the ear	2218	FKTN	OMIM:236670
HP:0008771	Aplasia/Hypoplasia of the ear	4131	MAP1B	OMIM:618918
HP:0008771	Aplasia/Hypoplasia of the ear	90161	HS6ST2	OMIM:301025
HP:0008771	Aplasia/Hypoplasia of the ear	55777	MBD5	OMIM:156200
HP:0008771	Aplasia/Hypoplasia of the ear	4000	LMNA	OMIM:212112
HP:0008771	Aplasia/Hypoplasia of the ear	3209	HOXA13	ORPHA:2438
HP:0008771	Aplasia/Hypoplasia of the ear	7703	PCGF2	OMIM:618371
HP:0008771	Aplasia/Hypoplasia of the ear	5718	PSMD12	ORPHA:529962
HP:0008771	Aplasia/Hypoplasia of the ear	2186	BPTF	ORPHA:529962
HP:0008771	Aplasia/Hypoplasia of the ear	5116	PCNT	OMIM:210720
HP:0008771	Aplasia/Hypoplasia of the ear	9343	EFTUD2	OMIM:610536
HP:0008771	Aplasia/Hypoplasia of the ear	9343	EFTUD2	ORPHA:79113
HP:0008771	Aplasia/Hypoplasia of the ear	8405	SPOP	OMIM:618829
HP:0008771	Aplasia/Hypoplasia of the ear	84172	POLR1B	ORPHA:861
HP:0008771	Aplasia/Hypoplasia of the ear	23556	PIGN	ORPHA:280633
HP:0008771	Aplasia/Hypoplasia of the ear	5058	PAK1	OMIM:618158
HP:0008771	Aplasia/Hypoplasia of the ear	139285	AMER1	OMIM:300373
HP:0008771	Aplasia/Hypoplasia of the ear	1984	EIF5A	OMIM:619376
HP:0008771	Aplasia/Hypoplasia of the ear	55835	CENPJ	OMIM:608393
HP:0008771	Aplasia/Hypoplasia of the ear	3655	ITGA6	OMIM:619817
HP:0008771	Aplasia/Hypoplasia of the ear	5557	PRIM1	OMIM:620005
HP:0008771	Aplasia/Hypoplasia of the ear	26229	B3GAT3	OMIM:245600
HP:0008771	Aplasia/Hypoplasia of the ear	5087	PBX1	OMIM:617641
HP:0008771	Aplasia/Hypoplasia of the ear	7388	UQCRH	OMIM:620137
HP:0008771	Aplasia/Hypoplasia of the ear	25886	POC1A	OMIM:614813
HP:0008771	Aplasia/Hypoplasia of the ear	58499	ZNF462	OMIM:618619
HP:0008771	Aplasia/Hypoplasia of the ear	145173	B3GLCT	ORPHA:709
HP:0008771	Aplasia/Hypoplasia of the ear	145173	B3GLCT	OMIM:261540
HP:0008771	Aplasia/Hypoplasia of the ear	1663	DDX11	OMIM:613398
HP:0008771	Aplasia/Hypoplasia of the ear	3766	KCNJ10	ORPHA:705
HP:0008771	Aplasia/Hypoplasia of the ear	2299	FOXI1	ORPHA:705
HP:0008771	Aplasia/Hypoplasia of the ear	5172	SLC26A4	ORPHA:705
HP:0008771	Aplasia/Hypoplasia of the ear	147912	SIX5	ORPHA:107
HP:0008771	Aplasia/Hypoplasia of the ear	51633	OTUD6B	ORPHA:505237
HP:0008771	Aplasia/Hypoplasia of the ear	1906	EDN1	ORPHA:137888
HP:0008771	Aplasia/Hypoplasia of the ear	5332	PLCB4	ORPHA:137888
HP:0008771	Aplasia/Hypoplasia of the ear	2773	GNAI3	ORPHA:137888
HP:0008771	Aplasia/Hypoplasia of the ear	3199	HOXA2	ORPHA:83463
HP:0008771	Aplasia/Hypoplasia of the ear	55120	FANCL	OMIM:614083
HP:0008771	Aplasia/Hypoplasia of the ear	25885	POLR1A	OMIM:616462
HP:0008771	Aplasia/Hypoplasia of the ear	10992	SF3B2	OMIM:164210
HP:0008771	Aplasia/Hypoplasia of the ear	51082	POLR1D	OMIM:613717
HP:0008771	Aplasia/Hypoplasia of the ear	6913	TBX15	OMIM:260660
HP:0008771	Aplasia/Hypoplasia of the ear	9968	MED12	OMIM:305450
HP:0008771	Aplasia/Hypoplasia of the ear	117581	TWIST2	OMIM:200110
HP:0008771	Aplasia/Hypoplasia of the ear	81620	CDT1	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	5000	ORC4	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	23594	ORC6	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	8318	CDC45	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	990	CDC6	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	4998	ORC1	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	51053	GMNN	ORPHA:2554
HP:0008771	Aplasia/Hypoplasia of the ear	2187	FANCB	ORPHA:3412
HP:0008771	Aplasia/Hypoplasia of the ear	26123	TCTN3	ORPHA:2753
HP:0008771	Aplasia/Hypoplasia of the ear	2248	FGF3	ORPHA:90024
HP:0008771	Aplasia/Hypoplasia of the ear	2248	FGF3	OMIM:610706
HP:0008771	Aplasia/Hypoplasia of the ear	80000	GREB1L	OMIM:619274
HP:0008771	Aplasia/Hypoplasia of the ear	51002	TPRKB	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	84942	WDR73	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	55644	OSGEP	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	57122	NUP107	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	10785	WDR4	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	55746	NUP133	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	112858	TP53RK	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	8270	LAGE3	ORPHA:2065
HP:0008771	Aplasia/Hypoplasia of the ear	10225	CD96	ORPHA:1308
HP:0008771	Aplasia/Hypoplasia of the ear	4921	DDR2	OMIM:618175
HP:0008772	Aplasia/Hypoplasia of the external ear	5290	PIK3CA	ORPHA:276280
HP:0008772	Aplasia/Hypoplasia of the external ear	23394	ADNP	ORPHA:404448
HP:0008772	Aplasia/Hypoplasia of the external ear	23019	CNOT1	OMIM:618500
HP:0008772	Aplasia/Hypoplasia of the external ear	2138	EYA1	OMIM:113650
HP:0008772	Aplasia/Hypoplasia of the external ear	2138	EYA1	OMIM:602588
HP:0008772	Aplasia/Hypoplasia of the external ear	6495	SIX1	OMIM:113650
HP:0008772	Aplasia/Hypoplasia of the external ear	5339	PLEC	ORPHA:158684
HP:0008772	Aplasia/Hypoplasia of the external ear	5339	PLEC	OMIM:612138
HP:0008772	Aplasia/Hypoplasia of the external ear	3691	ITGB4	ORPHA:158684
HP:0008772	Aplasia/Hypoplasia of the external ear	2263	FGFR2	OMIM:149730
HP:0008772	Aplasia/Hypoplasia of the external ear	2263	FGFR2	OMIM:101400
HP:0008772	Aplasia/Hypoplasia of the external ear	2263	FGFR2	ORPHA:2363
HP:0008772	Aplasia/Hypoplasia of the external ear	2263	FGFR2	ORPHA:794
HP:0008772	Aplasia/Hypoplasia of the external ear	2629	GBA1	OMIM:608013
HP:0008772	Aplasia/Hypoplasia of the external ear	51099	ABHD5	OMIM:275630
HP:0008772	Aplasia/Hypoplasia of the external ear	4784	NFIX	ORPHA:447980
HP:0008772	Aplasia/Hypoplasia of the external ear	51506	UFC1	OMIM:618076
HP:0008772	Aplasia/Hypoplasia of the external ear	55788	LMBRD1	OMIM:277380
HP:0008772	Aplasia/Hypoplasia of the external ear	6595	SMARCA2	ORPHA:2728
HP:0008772	Aplasia/Hypoplasia of the external ear	55636	CHD7	ORPHA:138
HP:0008772	Aplasia/Hypoplasia of the external ear	55636	CHD7	OMIM:214800
HP:0008772	Aplasia/Hypoplasia of the external ear	9723	SEMA3E	ORPHA:138
HP:0008772	Aplasia/Hypoplasia of the external ear	9382	COG1	OMIM:611209
HP:0008772	Aplasia/Hypoplasia of the external ear	9382	COG1	ORPHA:263508
HP:0008772	Aplasia/Hypoplasia of the external ear	2188	FANCF	OMIM:603467
HP:0008772	Aplasia/Hypoplasia of the external ear	56992	KIF15	ORPHA:261323
HP:0008772	Aplasia/Hypoplasia of the external ear	57589	RIC1	OMIM:618761
HP:0008772	Aplasia/Hypoplasia of the external ear	3190	HNRNPK	OMIM:616580
HP:0008772	Aplasia/Hypoplasia of the external ear	9739	SETD1A	OMIM:619056
HP:0008772	Aplasia/Hypoplasia of the external ear	80204	FBXO11	OMIM:618089
HP:0008772	Aplasia/Hypoplasia of the external ear	9469	CHST3	OMIM:143095
HP:0008772	Aplasia/Hypoplasia of the external ear	9469	CHST3	OMIM:245600
HP:0008772	Aplasia/Hypoplasia of the external ear	815	CAMK2A	OMIM:617798
HP:0008772	Aplasia/Hypoplasia of the external ear	284252	KCTD1	ORPHA:2036
HP:0008772	Aplasia/Hypoplasia of the external ear	284252	KCTD1	OMIM:181270
HP:0008772	Aplasia/Hypoplasia of the external ear	7020	TFAP2A	OMIM:113620
HP:0008772	Aplasia/Hypoplasia of the external ear	10815	CPLX1	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	54872	PIGG	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	7469	NELFA	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	1487	CTBP1	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	3954	LETM1	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	7468	NSD2	ORPHA:280
HP:0008772	Aplasia/Hypoplasia of the external ear	4174	MCM5	OMIM:617564
HP:0008772	Aplasia/Hypoplasia of the external ear	51199	NIN	OMIM:614851
HP:0008772	Aplasia/Hypoplasia of the external ear	51199	NIN	ORPHA:319675
HP:0008772	Aplasia/Hypoplasia of the external ear	7291	TWIST1	OMIM:101400
HP:0008772	Aplasia/Hypoplasia of the external ear	7291	TWIST1	ORPHA:794
HP:0008772	Aplasia/Hypoplasia of the external ear	7291	TWIST1	OMIM:617746
HP:0008772	Aplasia/Hypoplasia of the external ear	8642	DCHS1	OMIM:601390
HP:0008772	Aplasia/Hypoplasia of the external ear	8642	DCHS1	ORPHA:314679
HP:0008772	Aplasia/Hypoplasia of the external ear	175	AGA	ORPHA:93
HP:0008772	Aplasia/Hypoplasia of the external ear	8241	RBM10	OMIM:311900
HP:0008772	Aplasia/Hypoplasia of the external ear	6234	RPS28	OMIM:606164
HP:0008772	Aplasia/Hypoplasia of the external ear	6234	RPS28	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	26038	CHD5	OMIM:619873
HP:0008772	Aplasia/Hypoplasia of the external ear	79633	FAT4	OMIM:616006
HP:0008772	Aplasia/Hypoplasia of the external ear	79633	FAT4	ORPHA:314679
HP:0008772	Aplasia/Hypoplasia of the external ear	79633	FAT4	OMIM:615546
HP:0008772	Aplasia/Hypoplasia of the external ear	1909	EDNRA	OMIM:616367
HP:0008772	Aplasia/Hypoplasia of the external ear	5590	PRKCZ	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	2563	GABRD	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	23013	SPEN	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	8510	MMP23B	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	7798	LUZP1	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	6497	SKI	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	10630	PDPN	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	3339	HSPG2	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	10277	UBE4B	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	8514	KCNAB2	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	473	RERE	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	63976	PRDM16	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	54897	CASZ1	ORPHA:1606
HP:0008772	Aplasia/Hypoplasia of the external ear	8085	KMT2D	OMIM:620186
HP:0008772	Aplasia/Hypoplasia of the external ear	55719	SLF2	OMIM:620184
HP:0008772	Aplasia/Hypoplasia of the external ear	2255	FGF10	OMIM:620193
HP:0008772	Aplasia/Hypoplasia of the external ear	2255	FGF10	ORPHA:2363
HP:0008772	Aplasia/Hypoplasia of the external ear	2261	FGFR3	OMIM:620192
HP:0008772	Aplasia/Hypoplasia of the external ear	2261	FGFR3	ORPHA:2363
HP:0008772	Aplasia/Hypoplasia of the external ear	2261	FGFR3	ORPHA:794
HP:0008772	Aplasia/Hypoplasia of the external ear	4094	MAF	ORPHA:1272
HP:0008772	Aplasia/Hypoplasia of the external ear	4094	MAF	OMIM:601088
HP:0008772	Aplasia/Hypoplasia of the external ear	4089	SMAD4	OMIM:139210
HP:0008772	Aplasia/Hypoplasia of the external ear	7750	ZMYM2	OMIM:619522
HP:0008772	Aplasia/Hypoplasia of the external ear	51339	DACT1	OMIM:617466
HP:0008772	Aplasia/Hypoplasia of the external ear	51339	DACT1	ORPHA:857
HP:0008772	Aplasia/Hypoplasia of the external ear	81887	LAS1L	ORPHA:3459
HP:0008772	Aplasia/Hypoplasia of the external ear	55869	HDAC8	ORPHA:3459
HP:0008772	Aplasia/Hypoplasia of the external ear	5422	POLA1	ORPHA:163976
HP:0008772	Aplasia/Hypoplasia of the external ear	5422	POLA1	OMIM:301030
HP:0008772	Aplasia/Hypoplasia of the external ear	388015	RTL1	ORPHA:96334
HP:0008772	Aplasia/Hypoplasia of the external ear	8788	DLK1	ORPHA:96334
HP:0008772	Aplasia/Hypoplasia of the external ear	55384	MEG3	ORPHA:96334
HP:0008772	Aplasia/Hypoplasia of the external ear	6231	RPS26	OMIM:613309
HP:0008772	Aplasia/Hypoplasia of the external ear	6231	RPS26	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	55343	SLC35C1	ORPHA:99843
HP:0008772	Aplasia/Hypoplasia of the external ear	4123	MAN2C1	OMIM:619775
HP:0008772	Aplasia/Hypoplasia of the external ear	6949	TCOF1	OMIM:154500
HP:0008772	Aplasia/Hypoplasia of the external ear	6949	TCOF1	ORPHA:861
HP:0008772	Aplasia/Hypoplasia of the external ear	9652	SKIC3	OMIM:222470
HP:0008772	Aplasia/Hypoplasia of the external ear	546	ATRX	OMIM:309580
HP:0008772	Aplasia/Hypoplasia of the external ear	546	ATRX	OMIM:301040
HP:0008772	Aplasia/Hypoplasia of the external ear	729920	CRPPA	OMIM:614643
HP:0008772	Aplasia/Hypoplasia of the external ear	4488	MSX2	OMIM:168550
HP:0008772	Aplasia/Hypoplasia of the external ear	9896	FIG4	OMIM:216340
HP:0008772	Aplasia/Hypoplasia of the external ear	1723	DHODH	ORPHA:246
HP:0008772	Aplasia/Hypoplasia of the external ear	10262	SF3B4	ORPHA:245
HP:0008772	Aplasia/Hypoplasia of the external ear	10262	SF3B4	ORPHA:1788
HP:0008772	Aplasia/Hypoplasia of the external ear	6135	RPL11	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6138	RPL15	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6229	RPS24	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6125	RPL5	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6204	RPS10	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6224	RPS20	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6165	RPL35A	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	2623	GATA1	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	2623	GATA1	OMIM:190685
HP:0008772	Aplasia/Hypoplasia of the external ear	6223	RPS19	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6232	RPS27	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	11224	RPL35	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6160	RPL31	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6218	RPS17	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6201	RPS7	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6155	RPL27	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6154	RPL26	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6210	RPS15A	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	90121	TSR2	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	90121	TSR2	OMIM:300946
HP:0008772	Aplasia/Hypoplasia of the external ear	6141	RPL18	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	6235	RPS29	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	51816	ADA2	ORPHA:124
HP:0008772	Aplasia/Hypoplasia of the external ear	54101	RIPK4	OMIM:263650
HP:0008772	Aplasia/Hypoplasia of the external ear	9533	POLR1C	OMIM:248390
HP:0008772	Aplasia/Hypoplasia of the external ear	9533	POLR1C	ORPHA:861
HP:0008772	Aplasia/Hypoplasia of the external ear	51025	PAM16	OMIM:613320
HP:0008772	Aplasia/Hypoplasia of the external ear	27152	INTU	OMIM:617925
HP:0008772	Aplasia/Hypoplasia of the external ear	5426	POLE	OMIM:618336
HP:0008772	Aplasia/Hypoplasia of the external ear	2737	GLI3	ORPHA:672
HP:0008772	Aplasia/Hypoplasia of the external ear	2737	GLI3	OMIM:146510
HP:0008772	Aplasia/Hypoplasia of the external ear	10735	STAG2	OMIM:301043
HP:0008772	Aplasia/Hypoplasia of the external ear	10735	STAG2	OMIM:301022
HP:0008772	Aplasia/Hypoplasia of the external ear	6477	SIAH1	OMIM:619314
HP:0008772	Aplasia/Hypoplasia of the external ear	100151683	RNU4ATAC	OMIM:210710
HP:0008772	Aplasia/Hypoplasia of the external ear	89970	RSPRY1	OMIM:616723
HP:0008772	Aplasia/Hypoplasia of the external ear	8626	TP63	OMIM:604292
HP:0008772	Aplasia/Hypoplasia of the external ear	7473	WNT3	ORPHA:3301
HP:0008772	Aplasia/Hypoplasia of the external ear	340419	RSPO2	ORPHA:3301
HP:0008772	Aplasia/Hypoplasia of the external ear	6299	SALL1	OMIM:107480
HP:0008772	Aplasia/Hypoplasia of the external ear	6299	SALL1	ORPHA:857
HP:0008772	Aplasia/Hypoplasia of the external ear	650	BMP2	ORPHA:261295
HP:0008772	Aplasia/Hypoplasia of the external ear	6492	SIM1	ORPHA:171829
HP:0008772	Aplasia/Hypoplasia of the external ear	3313	HSPA9	OMIM:616854
HP:0008772	Aplasia/Hypoplasia of the external ear	3097	HIVEP2	OMIM:616977
HP:0008772	Aplasia/Hypoplasia of the external ear	10982	MAPRE2	OMIM:616734
HP:0008772	Aplasia/Hypoplasia of the external ear	29954	POMT2	OMIM:236670
HP:0008772	Aplasia/Hypoplasia of the external ear	9215	LARGE1	OMIM:236670
HP:0008772	Aplasia/Hypoplasia of the external ear	79147	FKRP	OMIM:236670
HP:0008772	Aplasia/Hypoplasia of the external ear	10585	POMT1	OMIM:236670
HP:0008772	Aplasia/Hypoplasia of the external ear	2218	FKTN	OMIM:236670
HP:0008772	Aplasia/Hypoplasia of the external ear	4131	MAP1B	OMIM:618918
HP:0008772	Aplasia/Hypoplasia of the external ear	90161	HS6ST2	OMIM:301025
HP:0008772	Aplasia/Hypoplasia of the external ear	55777	MBD5	OMIM:156200
HP:0008772	Aplasia/Hypoplasia of the external ear	4000	LMNA	OMIM:212112
HP:0008772	Aplasia/Hypoplasia of the external ear	3209	HOXA13	ORPHA:2438
HP:0008772	Aplasia/Hypoplasia of the external ear	7703	PCGF2	OMIM:618371
HP:0008772	Aplasia/Hypoplasia of the external ear	5718	PSMD12	ORPHA:529962
HP:0008772	Aplasia/Hypoplasia of the external ear	2186	BPTF	ORPHA:529962
HP:0008772	Aplasia/Hypoplasia of the external ear	5116	PCNT	OMIM:210720
HP:0008772	Aplasia/Hypoplasia of the external ear	9343	EFTUD2	OMIM:610536
HP:0008772	Aplasia/Hypoplasia of the external ear	9343	EFTUD2	ORPHA:79113
HP:0008772	Aplasia/Hypoplasia of the external ear	8405	SPOP	OMIM:618829
HP:0008772	Aplasia/Hypoplasia of the external ear	84172	POLR1B	ORPHA:861
HP:0008772	Aplasia/Hypoplasia of the external ear	23556	PIGN	ORPHA:280633
HP:0008772	Aplasia/Hypoplasia of the external ear	5058	PAK1	OMIM:618158
HP:0008772	Aplasia/Hypoplasia of the external ear	139285	AMER1	OMIM:300373
HP:0008772	Aplasia/Hypoplasia of the external ear	1984	EIF5A	OMIM:619376
HP:0008772	Aplasia/Hypoplasia of the external ear	55835	CENPJ	OMIM:608393
HP:0008772	Aplasia/Hypoplasia of the external ear	3655	ITGA6	OMIM:619817
HP:0008772	Aplasia/Hypoplasia of the external ear	5557	PRIM1	OMIM:620005
HP:0008772	Aplasia/Hypoplasia of the external ear	26229	B3GAT3	OMIM:245600
HP:0008772	Aplasia/Hypoplasia of the external ear	5087	PBX1	OMIM:617641
HP:0008772	Aplasia/Hypoplasia of the external ear	7388	UQCRH	OMIM:620137
HP:0008772	Aplasia/Hypoplasia of the external ear	25886	POC1A	OMIM:614813
HP:0008772	Aplasia/Hypoplasia of the external ear	58499	ZNF462	OMIM:618619
HP:0008772	Aplasia/Hypoplasia of the external ear	145173	B3GLCT	ORPHA:709
HP:0008772	Aplasia/Hypoplasia of the external ear	145173	B3GLCT	OMIM:261540
HP:0008772	Aplasia/Hypoplasia of the external ear	51633	OTUD6B	ORPHA:505237
HP:0008772	Aplasia/Hypoplasia of the external ear	1906	EDN1	ORPHA:137888
HP:0008772	Aplasia/Hypoplasia of the external ear	5332	PLCB4	ORPHA:137888
HP:0008772	Aplasia/Hypoplasia of the external ear	2773	GNAI3	ORPHA:137888
HP:0008772	Aplasia/Hypoplasia of the external ear	3199	HOXA2	ORPHA:83463
HP:0008772	Aplasia/Hypoplasia of the external ear	55120	FANCL	OMIM:614083
HP:0008772	Aplasia/Hypoplasia of the external ear	25885	POLR1A	OMIM:616462
HP:0008772	Aplasia/Hypoplasia of the external ear	10992	SF3B2	OMIM:164210
HP:0008772	Aplasia/Hypoplasia of the external ear	81620	CDT1	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	5000	ORC4	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	23594	ORC6	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	8318	CDC45	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	990	CDC6	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	4998	ORC1	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	51053	GMNN	ORPHA:2554
HP:0008772	Aplasia/Hypoplasia of the external ear	51082	POLR1D	OMIM:613717
HP:0008772	Aplasia/Hypoplasia of the external ear	2187	FANCB	ORPHA:3412
HP:0008772	Aplasia/Hypoplasia of the external ear	117581	TWIST2	OMIM:209885
HP:0008772	Aplasia/Hypoplasia of the external ear	117581	TWIST2	OMIM:200110
HP:0008772	Aplasia/Hypoplasia of the external ear	6913	TBX15	OMIM:260660
HP:0008772	Aplasia/Hypoplasia of the external ear	9968	MED12	OMIM:305450
HP:0008772	Aplasia/Hypoplasia of the external ear	2248	FGF3	OMIM:610706
HP:0008772	Aplasia/Hypoplasia of the external ear	26123	TCTN3	ORPHA:2753
HP:0008772	Aplasia/Hypoplasia of the external ear	51002	TPRKB	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	84942	WDR73	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	55644	OSGEP	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	57122	NUP107	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	10785	WDR4	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	55746	NUP133	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	112858	TP53RK	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	8270	LAGE3	ORPHA:2065
HP:0008772	Aplasia/Hypoplasia of the external ear	10225	CD96	ORPHA:1308
HP:0008772	Aplasia/Hypoplasia of the external ear	4921	DDR2	OMIM:618175
HP:0008774	Aplasia/Hypoplasia of the inner ear	1663	DDX11	OMIM:613398
HP:0008774	Aplasia/Hypoplasia of the inner ear	2138	EYA1	OMIM:166780
HP:0008774	Aplasia/Hypoplasia of the inner ear	2138	EYA1	OMIM:602588
HP:0008774	Aplasia/Hypoplasia of the inner ear	2138	EYA1	OMIM:113650
HP:0008774	Aplasia/Hypoplasia of the inner ear	2138	EYA1	ORPHA:107
HP:0008774	Aplasia/Hypoplasia of the inner ear	3766	KCNJ10	ORPHA:705
HP:0008774	Aplasia/Hypoplasia of the inner ear	2299	FOXI1	ORPHA:705
HP:0008774	Aplasia/Hypoplasia of the inner ear	5172	SLC26A4	ORPHA:705
HP:0008774	Aplasia/Hypoplasia of the inner ear	6495	SIX1	OMIM:113650
HP:0008774	Aplasia/Hypoplasia of the inner ear	6495	SIX1	ORPHA:107
HP:0008774	Aplasia/Hypoplasia of the inner ear	147912	SIX5	ORPHA:107
HP:0008774	Aplasia/Hypoplasia of the inner ear	2248	FGF3	ORPHA:90024
HP:0008774	Aplasia/Hypoplasia of the inner ear	2248	FGF3	OMIM:610706
HP:0008774	Aplasia/Hypoplasia of the inner ear	80000	GREB1L	OMIM:619274
HP:0008775	Abnormal prostate morphology	3081	HGD	ORPHA:56
HP:0008775	Abnormal prostate morphology	695	BTK	OMIM:300755
HP:0008775	Abnormal prostate morphology	695	BTK	OMIM:307200
HP:0008775	Abnormal prostate morphology	1493	CTLA4	ORPHA:900
HP:0008775	Abnormal prostate morphology	26191	PTPN22	ORPHA:900
HP:0008775	Abnormal prostate morphology	3115	HLA-DPB1	ORPHA:900
HP:0008775	Abnormal prostate morphology	5657	PRTN3	ORPHA:900
HP:0008775	Abnormal prostate morphology	3113	HLA-DPA1	ORPHA:900
HP:0008775	Abnormal prostate morphology	84295	PHF6	OMIM:301900
HP:0008775	Abnormal prostate morphology	4665	NAB2	ORPHA:2126
HP:0008775	Abnormal prostate morphology	6778	STAT6	ORPHA:2126
HP:0008775	Abnormal prostate morphology	672	BRCA1	ORPHA:145
HP:0008775	Abnormal prostate morphology	5892	RAD51D	ORPHA:145
HP:0008775	Abnormal prostate morphology	675	BRCA2	ORPHA:145
HP:0008775	Abnormal prostate morphology	675	BRCA2	OMIM:176807
HP:0008775	Abnormal prostate morphology	5728	PTEN	ORPHA:145
HP:0008775	Abnormal prostate morphology	5728	PTEN	OMIM:176807
HP:0008775	Abnormal prostate morphology	10111	RAD50	ORPHA:145
HP:0008775	Abnormal prostate morphology	580	BARD1	ORPHA:145
HP:0008775	Abnormal prostate morphology	5888	RAD51	ORPHA:145
HP:0008775	Abnormal prostate morphology	4683	NBN	ORPHA:145
HP:0008775	Abnormal prostate morphology	5889	RAD51C	ORPHA:145
HP:0008775	Abnormal prostate morphology	83990	BRIP1	ORPHA:145
HP:0008775	Abnormal prostate morphology	4361	MRE11	ORPHA:145
HP:0008775	Abnormal prostate morphology	79728	PALB2	ORPHA:145
HP:0008775	Abnormal prostate morphology	11200	CHEK2	ORPHA:145
HP:0008775	Abnormal prostate morphology	11200	CHEK2	OMIM:176807
HP:0008775	Abnormal prostate morphology	11200	CHEK2	ORPHA:524
HP:0008775	Abnormal prostate morphology	2048	EPHB2	OMIM:603688
HP:0008775	Abnormal prostate morphology	463	ZFHX3	OMIM:176807
HP:0008775	Abnormal prostate morphology	1316	KLF6	OMIM:176807
HP:0008775	Abnormal prostate morphology	999	CDH1	OMIM:176807
HP:0008775	Abnormal prostate morphology	367	AR	OMIM:176807
HP:0008775	Abnormal prostate morphology	4601	MXI1	OMIM:176807
HP:0008775	Abnormal prostate morphology	8379	MAD1L1	OMIM:176807
HP:0008775	Abnormal prostate morphology	54894	RNF43	ORPHA:157798
HP:0008775	Abnormal prostate morphology	6041	RNASEL	OMIM:601518
HP:0008775	Abnormal prostate morphology	26585	GREM1	ORPHA:157794
HP:0008775	Abnormal prostate morphology	657	BMPR1A	ORPHA:157794
HP:0008775	Abnormal prostate morphology	2304	FOXE1	OMIM:616534
HP:0008775	Abnormal prostate morphology	4913	NTHL1	OMIM:616415
HP:0008775	Abnormal prostate morphology	324	APC	ORPHA:79665
HP:0008775	Abnormal prostate morphology	7373	COL14A1	ORPHA:79501
HP:0008775	Abnormal prostate morphology	79719	AAGAB	ORPHA:79501
HP:0008775	Abnormal prostate morphology	1029	CDKN2A	ORPHA:524
HP:0008775	Abnormal prostate morphology	4193	MDM2	ORPHA:524
HP:0008775	Abnormal prostate morphology	7157	TP53	OMIM:151623
HP:0008776	Abnormal renal artery morphology	3949	LDLR	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	255738	PCSK9	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	338	APOB	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	64240	ABCG5	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	64241	ABCG8	ORPHA:391665
HP:0008776	Abnormal renal artery morphology	55249	YY1AP1	OMIM:602531
HP:0008776	Abnormal renal artery morphology	4763	NF1	OMIM:162200
HP:0008776	Abnormal renal artery morphology	4763	NF1	ORPHA:97685
HP:0008776	Abnormal renal artery morphology	6772	STAT1	ORPHA:391487
HP:0008776	Abnormal renal artery morphology	10043	TOM1	ORPHA:391487
HP:0008776	Abnormal renal artery morphology	9896	FIG4	ORPHA:3472
HP:0008776	Abnormal renal artery morphology	55697	VAC14	ORPHA:3472
HP:0008776	Abnormal renal artery morphology	5167	ENPP1	OMIM:208000
HP:0008776	Abnormal renal artery morphology	55654	TMEM127	OMIM:171300
HP:0008776	Abnormal renal artery morphology	5979	RET	OMIM:171300
HP:0008776	Abnormal renal artery morphology	6390	SDHB	OMIM:171300
HP:0008776	Abnormal renal artery morphology	6392	SDHD	OMIM:171300
HP:0008776	Abnormal renal artery morphology	4149	MAX	OMIM:171300
HP:0008776	Abnormal renal artery morphology	7428	VHL	OMIM:171300
HP:0008776	Abnormal renal artery morphology	50628	GEMIN4	OMIM:617913
HP:0008776	Abnormal renal artery morphology	182	JAG1	OMIM:118450
HP:0008776	Abnormal renal artery morphology	51085	MLXIPL	OMIM:194050
HP:0008776	Abnormal renal artery morphology	2006	ELN	OMIM:194050
HP:0008776	Abnormal renal artery morphology	5456	POU3F4	ORPHA:1435
HP:0008776	Abnormal renal artery morphology	79796	ALG9	ORPHA:79328
HP:0008776	Abnormal renal artery morphology	57104	PNPLA2	ORPHA:565612
HP:0008776	Abnormal renal artery morphology	51816	ADA2	OMIM:615688
HP:0008777	Abnormal vocal cord morphology	9782	MATR3	OMIM:606070
HP:0008777	Abnormal vocal cord morphology	9782	MATR3	ORPHA:600
HP:0008777	Abnormal vocal cord morphology	29967	LRP12	OMIM:164310
HP:0008777	Abnormal vocal cord morphology	10755	GIPC1	ORPHA:98897
HP:0008777	Abnormal vocal cord morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0008808	High iliac wing	5745	PTH1R	ORPHA:79106
HP:0008808	High iliac wing	10484	SEC23A	OMIM:607812
HP:0008808	High iliac wing	10484	SEC23A	ORPHA:50814
HP:0008808	High iliac wing	139285	AMER1	ORPHA:2780
HP:0008780	Congenital bilateral hip dislocation	1303	COL12A1	ORPHA:536516
HP:0008780	Congenital bilateral hip dislocation	9894	TELO2	ORPHA:488642
HP:0008780	Congenital bilateral hip dislocation	1277	COL1A1	OMIM:130060
HP:0008780	Congenital bilateral hip dislocation	5351	PLOD1	ORPHA:1900
HP:0008780	Congenital bilateral hip dislocation	57477	SHROOM4	ORPHA:85288
HP:0008780	Congenital bilateral hip dislocation	2192	FBLN1	ORPHA:404451
HP:0008780	Congenital bilateral hip dislocation	8218	CLTCL1	ORPHA:453510
HP:0008783	Wide proximal femoral metaphysis	55325	UFSP2	OMIM:142669
HP:0008784	Wide capital femoral epiphyses	50485	SMARCAL1	ORPHA:1830
HP:0008784	Wide capital femoral epiphyses	9496	TBX4	OMIM:147891
HP:0008785	Delayed ossification of pubic rami	9896	FIG4	OMIM:216340
HP:0008785	Delayed ossification of pubic rami	145258	GSC	OMIM:602471
HP:0008786	Iliac crest serration	2879	GPX4	ORPHA:93317
HP:0008786	Iliac crest serration	2879	GPX4	OMIM:250220
HP:0008786	Iliac crest serration	54808	DYM	OMIM:223800
HP:0008786	Iliac crest serration	54808	DYM	OMIM:607326
HP:0008786	Iliac crest serration	54808	DYM	ORPHA:239
HP:0008786	Iliac crest serration	51025	PAM16	OMIM:613320
HP:0008788	Delayed pubic bone ossification	10804	GJB6	ORPHA:477
HP:0008788	Delayed pubic bone ossification	2706	GJB2	ORPHA:477
HP:0008788	Delayed pubic bone ossification	23387	SIK3	OMIM:618162
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	OMIM:183900
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	ORPHA:93296
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	OMIM:184250
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	ORPHA:1856
HP:0008788	Delayed pubic bone ossification	860	RUNX2	OMIM:119600
HP:0008788	Delayed pubic bone ossification	865	CBFB	OMIM:620099
HP:0008788	Delayed pubic bone ossification	579	NKX3-2	OMIM:613330
HP:0008789	Cone-shaped capital femoral epiphysis	9131	AIFM1	OMIM:300232
HP:0008789	Cone-shaped capital femoral epiphysis	3549	IHH	OMIM:607778
HP:0034633	Reduced muscle enolase activity	2027	ENO3	OMIM:612932
HP:0034635	Muscle fiber granulofilamentous inclusion bodies	146862	UNC45B	OMIM:619178
HP:0008794	Dysplastic iliac wing	4148	MATN3	OMIM:608728
HP:0008797	Early ossification of capital femoral epiphyses	79848	CSPP1	ORPHA:397715
HP:0008797	Early ossification of capital femoral epiphyses	9786	KIAA0586	ORPHA:397715
HP:0008798	Widened greater sciatic notch	2879	GPX4	OMIM:250220
HP:0008807	Acetabular dysplasia	1311	COMP	ORPHA:750
HP:0008807	Acetabular dysplasia	2137	EXTL3	ORPHA:508533
HP:0008807	Acetabular dysplasia	1146	CHRNG	OMIM:265000
HP:0008807	Acetabular dysplasia	10717	AP4B1	ORPHA:280763
HP:0008807	Acetabular dysplasia	10717	AP4B1	OMIM:614066
HP:0008807	Acetabular dysplasia	9179	AP4M1	ORPHA:280763
HP:0008807	Acetabular dysplasia	11154	AP4S1	ORPHA:280763
HP:0008807	Acetabular dysplasia	23431	AP4E1	ORPHA:280763
HP:0008807	Acetabular dysplasia	126792	B3GALT6	ORPHA:536467
HP:0008807	Acetabular dysplasia	29928	TIMM22	OMIM:618851
HP:0008807	Acetabular dysplasia	6210	RPS15A	OMIM:618313
HP:0008807	Acetabular dysplasia	9775	EIF4A3	OMIM:268305
HP:0008807	Acetabular dysplasia	25885	POLR1A	OMIM:616462
HP:0008807	Acetabular dysplasia	1836	SLC26A2	ORPHA:93307
HP:0008807	Acetabular dysplasia	2990	GUSB	OMIM:253220
HP:0008807	Acetabular dysplasia	23443	SLC35A3	OMIM:615553
HP:0008807	Acetabular dysplasia	65082	VPS33A	OMIM:617303
HP:0008807	Acetabular dysplasia	84700	MYO18B	OMIM:616549
HP:0008807	Acetabular dysplasia	55681	SCYL2	ORPHA:1143
HP:0008807	Acetabular dysplasia	84570	COL25A1	ORPHA:1143
HP:0008807	Acetabular dysplasia	57222	ERGIC1	ORPHA:1143
HP:0008807	Acetabular dysplasia	4897	NRCAM	OMIM:619833
HP:0008807	Acetabular dysplasia	2720	GLB1	ORPHA:79255
HP:0008807	Acetabular dysplasia	8546	AP3B1	OMIM:608233
HP:0034644	Abnormal liver metabolite concentration	10159	ATP6AP2	OMIM:301045
HP:0034644	Abnormal liver metabolite concentration	3376	IARS1	OMIM:617093
HP:0034644	Abnormal liver metabolite concentration	3376	IARS1	ORPHA:541423
HP:0034644	Abnormal liver metabolite concentration	286053	NSMCE2	OMIM:617253
HP:0034644	Abnormal liver metabolite concentration	286053	NSMCE2	ORPHA:436182
HP:0034644	Abnormal liver metabolite concentration	30061	SLC40A1	ORPHA:139491
HP:0034644	Abnormal liver metabolite concentration	30061	SLC40A1	OMIM:606069
HP:0034644	Abnormal liver metabolite concentration	229	ALDOB	OMIM:229600
HP:0034644	Abnormal liver metabolite concentration	3033	HADH	OMIM:231530
HP:0034644	Abnormal liver metabolite concentration	3033	HADH	ORPHA:71212
HP:0034644	Abnormal liver metabolite concentration	11020	IFT27	OMIM:615996
HP:0034644	Abnormal liver metabolite concentration	132	ADK	OMIM:614300
HP:0034644	Abnormal liver metabolite concentration	60684	TRAPPC11	OMIM:615356
HP:0034644	Abnormal liver metabolite concentration	60684	TRAPPC11	ORPHA:369840
HP:0034644	Abnormal liver metabolite concentration	1355	COX15	OMIM:615119
HP:0034644	Abnormal liver metabolite concentration	63924	CIDEC	OMIM:615238
HP:0034644	Abnormal liver metabolite concentration	63924	CIDEC	ORPHA:435651
HP:0034644	Abnormal liver metabolite concentration	857	CAV1	OMIM:612526
HP:0034644	Abnormal liver metabolite concentration	857	CAV1	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	81570	CLPB	ORPHA:445038
HP:0034644	Abnormal liver metabolite concentration	81570	CLPB	OMIM:616271
HP:0034644	Abnormal liver metabolite concentration	51099	ABHD5	OMIM:275630
HP:0034644	Abnormal liver metabolite concentration	51099	ABHD5	ORPHA:98907
HP:0034644	Abnormal liver metabolite concentration	6718	AKR1D1	ORPHA:79303
HP:0034644	Abnormal liver metabolite concentration	80222	TARS2	OMIM:615918
HP:0034644	Abnormal liver metabolite concentration	26580	BSCL2	ORPHA:363400
HP:0034644	Abnormal liver metabolite concentration	26580	BSCL2	OMIM:269700
HP:0034644	Abnormal liver metabolite concentration	26580	BSCL2	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	6341	SCO1	OMIM:619048
HP:0034644	Abnormal liver metabolite concentration	4141	MARS1	OMIM:615486
HP:0034644	Abnormal liver metabolite concentration	8882	ZPR1	OMIM:619321
HP:0034644	Abnormal liver metabolite concentration	348	APOE	ORPHA:412
HP:0034644	Abnormal liver metabolite concentration	10165	SLC25A13	OMIM:603471
HP:0034644	Abnormal liver metabolite concentration	10165	SLC25A13	ORPHA:247598
HP:0034644	Abnormal liver metabolite concentration	10165	SLC25A13	ORPHA:247585
HP:0034644	Abnormal liver metabolite concentration	2542	SLC37A4	ORPHA:79259
HP:0034644	Abnormal liver metabolite concentration	2542	SLC37A4	OMIM:619525
HP:0034644	Abnormal liver metabolite concentration	3949	LDLR	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	255738	PCSK9	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	26119	LDLRAP1	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	338	APOB	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	64240	ABCG5	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	64241	ABCG8	ORPHA:391665
HP:0034644	Abnormal liver metabolite concentration	60561	RINT1	OMIM:618641
HP:0034644	Abnormal liver metabolite concentration	4358	MPV17	OMIM:618400
HP:0034644	Abnormal liver metabolite concentration	4358	MPV17	OMIM:256810
HP:0034644	Abnormal liver metabolite concentration	537	ATP6AP1	OMIM:300972
HP:0034644	Abnormal liver metabolite concentration	34	ACADM	OMIM:201450
HP:0034644	Abnormal liver metabolite concentration	34	ACADM	ORPHA:42
HP:0034644	Abnormal liver metabolite concentration	5105	PCK1	OMIM:261680
HP:0034644	Abnormal liver metabolite concentration	50619	DEF6	OMIM:619573
HP:0034644	Abnormal liver metabolite concentration	3988	LIPA	OMIM:278000
HP:0034644	Abnormal liver metabolite concentration	26007	TKFC	OMIM:618805
HP:0034644	Abnormal liver metabolite concentration	5468	PPARG	ORPHA:79083
HP:0034644	Abnormal liver metabolite concentration	5468	PPARG	OMIM:604367
HP:0034644	Abnormal liver metabolite concentration	5468	PPARG	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	4000	LMNA	ORPHA:79084
HP:0034644	Abnormal liver metabolite concentration	4000	LMNA	OMIM:151660
HP:0034644	Abnormal liver metabolite concentration	4000	LMNA	ORPHA:79474
HP:0034644	Abnormal liver metabolite concentration	4000	LMNA	ORPHA:280365
HP:0034644	Abnormal liver metabolite concentration	4000	LMNA	ORPHA:2348
HP:0034644	Abnormal liver metabolite concentration	208	AKT2	ORPHA:79085
HP:0034644	Abnormal liver metabolite concentration	5346	PLIN1	OMIM:613877
HP:0034644	Abnormal liver metabolite concentration	5346	PLIN1	ORPHA:280356
HP:0034644	Abnormal liver metabolite concentration	84823	LMNB2	ORPHA:79087
HP:0034644	Abnormal liver metabolite concentration	84823	LMNB2	OMIM:608709
HP:0034644	Abnormal liver metabolite concentration	7840	ALMS1	OMIM:203800
HP:0034644	Abnormal liver metabolite concentration	7840	ALMS1	ORPHA:64
HP:0034644	Abnormal liver metabolite concentration	1581	CYP7A1	ORPHA:209902
HP:0034644	Abnormal liver metabolite concentration	1716	DGUOK	OMIM:251880
HP:0034644	Abnormal liver metabolite concentration	10555	AGPAT2	OMIM:608594
HP:0034644	Abnormal liver metabolite concentration	10555	AGPAT2	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	1717	DHCR7	OMIM:270400
HP:0034644	Abnormal liver metabolite concentration	4547	MTTP	ORPHA:14
HP:0034644	Abnormal liver metabolite concentration	6899	TBX1	OMIM:188400
HP:0034644	Abnormal liver metabolite concentration	5424	POLD1	OMIM:615381
HP:0034644	Abnormal liver metabolite concentration	8802	SUCLG1	ORPHA:17
HP:0034644	Abnormal liver metabolite concentration	84984	CEP19	OMIM:615703
HP:0034644	Abnormal liver metabolite concentration	2783	GNB2	OMIM:619503
HP:0034644	Abnormal liver metabolite concentration	28976	ACAD9	ORPHA:99901
HP:0034644	Abnormal liver metabolite concentration	5373	PMM2	OMIM:212065
HP:0034644	Abnormal liver metabolite concentration	1588	CYP19A1	ORPHA:91
HP:0034644	Abnormal liver metabolite concentration	37	ACADVL	OMIM:201475
HP:0034644	Abnormal liver metabolite concentration	54914	FOCAD	OMIM:619991
HP:0034644	Abnormal liver metabolite concentration	11222	MRPL3	OMIM:614582
HP:0034644	Abnormal liver metabolite concentration	6711	SPTBN1	OMIM:619475
HP:0034644	Abnormal liver metabolite concentration	3991	LIPE	ORPHA:435660
HP:0034644	Abnormal liver metabolite concentration	3991	LIPE	OMIM:615980
HP:0034644	Abnormal liver metabolite concentration	5566	PRKACA	ORPHA:189439
HP:0034644	Abnormal liver metabolite concentration	8622	PDE8B	ORPHA:189439
HP:0034644	Abnormal liver metabolite concentration	5573	PRKAR1A	ORPHA:189439
HP:0034644	Abnormal liver metabolite concentration	50940	PDE11A	ORPHA:189439
HP:0034644	Abnormal liver metabolite concentration	51520	LARS1	OMIM:615438
HP:0034644	Abnormal liver metabolite concentration	788	SLC25A20	OMIM:212138
HP:0034644	Abnormal liver metabolite concentration	540	ATP7B	ORPHA:905
HP:0034644	Abnormal liver metabolite concentration	540	ATP7B	OMIM:277900
HP:0034644	Abnormal liver metabolite concentration	5590	PRKCZ	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	2563	GABRD	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	23013	SPEN	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	8510	MMP23B	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	7798	LUZP1	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	6497	SKI	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	10630	PDPN	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	3339	HSPG2	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	10277	UBE4B	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	8514	KCNAB2	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	473	RERE	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	63976	PRDM16	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	54897	CASZ1	ORPHA:1606
HP:0034644	Abnormal liver metabolite concentration	10056	FARSB	OMIM:613658
HP:0034644	Abnormal liver metabolite concentration	6928	HNF1B	ORPHA:93111
HP:0034644	Abnormal liver metabolite concentration	10128	LRPPRC	ORPHA:70472
HP:0034644	Abnormal liver metabolite concentration	2203	FBP1	ORPHA:348
HP:0034644	Abnormal liver metabolite concentration	100147744	RNU7-1	OMIM:619487
HP:0034644	Abnormal liver metabolite concentration	5106	PCK2	OMIM:261650
HP:0034644	Abnormal liver metabolite concentration	79798	ARMC5	ORPHA:189427
HP:0034644	Abnormal liver metabolite concentration	2778	GNAS	ORPHA:189427
HP:0034644	Abnormal liver metabolite concentration	641	BLM	OMIM:210900
HP:0034644	Abnormal liver metabolite concentration	64135	IFIH1	OMIM:615846
HP:0034644	Abnormal liver metabolite concentration	7518	XRCC4	ORPHA:436182
HP:0034644	Abnormal liver metabolite concentration	51128	SAR1B	ORPHA:71
HP:0034644	Abnormal liver metabolite concentration	11128	POLR3A	ORPHA:3455
HP:0034644	Abnormal liver metabolite concentration	617	BCS1L	OMIM:124000
HP:0034644	Abnormal liver metabolite concentration	617	BCS1L	ORPHA:53693
HP:0034644	Abnormal liver metabolite concentration	3178	HNRNPA1	ORPHA:52430
HP:0034644	Abnormal liver metabolite concentration	7415	VCP	ORPHA:52430
HP:0034644	Abnormal liver metabolite concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0034644	Abnormal liver metabolite concentration	57104	PNPLA2	OMIM:610717
HP:0034644	Abnormal liver metabolite concentration	57104	PNPLA2	ORPHA:98908
HP:0034644	Abnormal liver metabolite concentration	1650	DDOST	ORPHA:300536
HP:0034644	Abnormal liver metabolite concentration	51651	PTRH2	OMIM:616263
HP:0034644	Abnormal liver metabolite concentration	2819	GPD1	OMIM:614480
HP:0034644	Abnormal liver metabolite concentration	51081	MRPS7	OMIM:617872
HP:0034644	Abnormal liver metabolite concentration	2193	FARSA	OMIM:619013
HP:0034644	Abnormal liver metabolite concentration	8565	YARS1	OMIM:619418
HP:0034644	Abnormal liver metabolite concentration	1374	CPT1A	OMIM:255120
HP:0034644	Abnormal liver metabolite concentration	5236	PGM1	OMIM:614921
HP:0034644	Abnormal liver metabolite concentration	55005	RMND1	OMIM:614922
HP:0034644	Abnormal liver metabolite concentration	3295	HSD17B4	OMIM:261515
HP:0034644	Abnormal liver metabolite concentration	9757	KMT2B	OMIM:619934
HP:0034644	Abnormal liver metabolite concentration	147007	TMEM199	OMIM:616829
HP:0034644	Abnormal liver metabolite concentration	875	CBS	OMIM:236200
HP:0034644	Abnormal liver metabolite concentration	1376	CPT2	ORPHA:228305
HP:0034644	Abnormal liver metabolite concentration	1376	CPT2	ORPHA:228308
HP:0034644	Abnormal liver metabolite concentration	284119	CAVIN1	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	284119	CAVIN1	OMIM:613327
HP:0034644	Abnormal liver metabolite concentration	2353	FOS	ORPHA:528
HP:0034644	Abnormal liver metabolite concentration	8813	DPM1	ORPHA:79322
HP:0034644	Abnormal liver metabolite concentration	9054	NFS1	OMIM:619386
HP:0034644	Abnormal liver metabolite concentration	5256	PHKA2	ORPHA:264580
HP:0034644	Abnormal liver metabolite concentration	5261	PHKG2	ORPHA:264580
HP:0034644	Abnormal liver metabolite concentration	35	ACADS	ORPHA:26792
HP:0034644	Abnormal liver metabolite concentration	2108	ETFA	OMIM:231680
HP:0034644	Abnormal liver metabolite concentration	2109	ETFB	OMIM:231680
HP:0034644	Abnormal liver metabolite concentration	2110	ETFDH	OMIM:231680
HP:0034644	Abnormal liver metabolite concentration	5428	POLG	ORPHA:298
HP:0034644	Abnormal liver metabolite concentration	1890	TYMP	ORPHA:298
HP:0034644	Abnormal liver metabolite concentration	3980	LIG3	ORPHA:298
HP:0034644	Abnormal liver metabolite concentration	50484	RRM2B	ORPHA:298
HP:0034644	Abnormal liver metabolite concentration	55687	TRMU	OMIM:613070
HP:0034644	Abnormal liver metabolite concentration	51103	NDUFAF1	OMIM:618234
HP:0034644	Abnormal liver metabolite concentration	10651	MTX2	OMIM:619127
HP:0034644	Abnormal liver metabolite concentration	57128	LYRM4	OMIM:615595
HP:0034644	Abnormal liver metabolite concentration	8260	NAA10	OMIM:300855
HP:0034644	Abnormal liver metabolite concentration	125988	MICOS13	OMIM:618329
HP:0034644	Abnormal liver metabolite concentration	65082	VPS33A	OMIM:617303
HP:0034644	Abnormal liver metabolite concentration	1794	DOCK2	OMIM:616433
HP:0034644	Abnormal liver metabolite concentration	124454	EARS2	OMIM:614924
HP:0034644	Abnormal liver metabolite concentration	27183	VPS4A	OMIM:619273
HP:0034644	Abnormal liver metabolite concentration	55898	UNC45A	OMIM:619377
HP:0034644	Abnormal liver metabolite concentration	374354	NHLRC2	OMIM:618278
HP:0034644	Abnormal liver metabolite concentration	5277	PIGA	OMIM:300868
HP:0034644	Abnormal liver metabolite concentration	65080	MRPL44	OMIM:615395
HP:0034644	Abnormal liver metabolite concentration	79587	CARS2	OMIM:616672
HP:0034644	Abnormal liver metabolite concentration	7019	TFAM	OMIM:617156
HP:0034644	Abnormal liver metabolite concentration	11232	POLG2	OMIM:618528
HP:0034644	Abnormal liver metabolite concentration	131118	DNAJC19	OMIM:610198
HP:0034644	Abnormal liver metabolite concentration	131118	DNAJC19	ORPHA:66634
HP:0034644	Abnormal liver metabolite concentration	55768	NGLY1	ORPHA:404454
HP:0034644	Abnormal liver metabolite concentration	51	ACOX1	OMIM:264470
HP:0034644	Abnormal liver metabolite concentration	84334	COA8	ORPHA:436271
HP:0034644	Abnormal liver metabolite concentration	3032	HADHB	ORPHA:746
HP:0034644	Abnormal liver metabolite concentration	3030	HADHA	ORPHA:746
HP:0034644	Abnormal liver metabolite concentration	3155	HMGCL	ORPHA:20
HP:0034644	Abnormal liver metabolite concentration	4574	MT-TS1	OMIM:220110
HP:0034644	Abnormal liver metabolite concentration	4570	MT-TN	OMIM:220110
HP:0034644	Abnormal liver metabolite concentration	6834	SURF1	OMIM:220110
HP:0034644	Abnormal liver metabolite concentration	3172	HNF4A	ORPHA:263455
HP:0034644	Abnormal liver metabolite concentration	5836	PYGL	OMIM:232700
HP:0034644	Abnormal liver metabolite concentration	5836	PYGL	ORPHA:369
HP:0034644	Abnormal liver metabolite concentration	5257	PHKB	OMIM:261750
HP:0034644	Abnormal liver metabolite concentration	10667	FARS2	OMIM:614946
HP:0034644	Abnormal liver metabolite concentration	6389	SDHA	OMIM:619259
HP:0034644	Abnormal liver metabolite concentration	56922	MCCC1	OMIM:210200
HP:0034644	Abnormal liver metabolite concentration	28234	SLCO1B3	ORPHA:3111
HP:0034644	Abnormal liver metabolite concentration	10599	SLCO1B1	ORPHA:3111
HP:0034644	Abnormal liver metabolite concentration	6584	SLC22A5	OMIM:212140
HP:0034644	Abnormal liver metabolite concentration	6514	SLC2A2	ORPHA:2088
HP:0034648	Elevated urine fumaric acid level	2271	FH	OMIM:606812
HP:0034653	Monocarboxylic aciduria	166785	MMAA	OMIM:251100
HP:0004002	Flattened radial epiphyses	1836	SLC26A2	ORPHA:93307
HP:0034661	Elevated urine 3-hydroxypropionic acid level	166785	MMAA	OMIM:251100
HP:0034662	Elevated urine 2-methylcitric acid level	166785	MMAA	OMIM:251100
HP:0034665	Shoulder contracture	1303	COL12A1	ORPHA:536516
HP:0034665	Shoulder contracture	100151683	RNU4ATAC	OMIM:210710
HP:0034665	Shoulder contracture	4621	MYH3	OMIM:193700
HP:0034665	Shoulder contracture	3339	HSPG2	OMIM:255800
HP:0034665	Shoulder contracture	3339	HSPG2	ORPHA:800
HP:0034665	Shoulder contracture	3714	JAG2	OMIM:619566
HP:0034665	Shoulder contracture	7138	TNNT1	ORPHA:98902
HP:0034665	Shoulder contracture	7138	TNNT1	OMIM:605355
HP:0034665	Shoulder contracture	339855	KY	OMIM:617114
HP:0034665	Shoulder contracture	29895	MYL11	OMIM:619110
HP:0034669	Abnormal knee morphology	1497	CTNS	OMIM:219800
HP:0034669	Abnormal knee morphology	875	CBS	ORPHA:394
HP:0034669	Abnormal knee morphology	7421	VDR	ORPHA:93160
HP:0034669	Abnormal knee morphology	2131	EXT1	OMIM:133700
HP:0034669	Abnormal knee morphology	2131	EXT1	ORPHA:321
HP:0034669	Abnormal knee morphology	2131	EXT1	ORPHA:502
HP:0034669	Abnormal knee morphology	51256	TBC1D7	OMIM:248000
HP:0034669	Abnormal knee morphology	2132	EXT2	OMIM:133701
HP:0034669	Abnormal knee morphology	2132	EXT2	ORPHA:321
HP:0034669	Abnormal knee morphology	2972	BRF1	OMIM:616202
HP:0034669	Abnormal knee morphology	7360	UGP2	OMIM:618744
HP:0034669	Abnormal knee morphology	10992	SF3B2	OMIM:164210
HP:0034669	Abnormal knee morphology	538	ATP7A	OMIM:304150
HP:0034669	Abnormal knee morphology	538	ATP7A	ORPHA:198
HP:0034669	Abnormal knee morphology	4125	MAN2B1	ORPHA:309282
HP:0034669	Abnormal knee morphology	58	ACTA1	ORPHA:171436
HP:0034669	Abnormal knee morphology	7169	TPM2	ORPHA:171436
HP:0034669	Abnormal knee morphology	4703	NEB	ORPHA:171436
HP:0034669	Abnormal knee morphology	10324	KLHL41	ORPHA:171436
HP:0034669	Abnormal knee morphology	56203	LMOD3	ORPHA:171436
HP:0034669	Abnormal knee morphology	1073	CFL2	ORPHA:171436
HP:0034669	Abnormal knee morphology	1278	COL1A2	ORPHA:230851
HP:0034669	Abnormal knee morphology	3021	H3-3B	OMIM:619721
HP:0034669	Abnormal knee morphology	23322	RPGRIP1L	OMIM:611560
HP:0034669	Abnormal knee morphology	176	ACAN	OMIM:608361
HP:0034669	Abnormal knee morphology	84572	GNPTG	OMIM:252605
HP:0034669	Abnormal knee morphology	64324	NSD1	OMIM:117550
HP:0034669	Abnormal knee morphology	7040	TGFB1	OMIM:131300
HP:0034669	Abnormal knee morphology	7040	TGFB1	ORPHA:1328
HP:0034669	Abnormal knee morphology	9469	CHST3	OMIM:143095
HP:0034669	Abnormal knee morphology	9469	CHST3	ORPHA:263463
HP:0034669	Abnormal knee morphology	9469	CHST3	OMIM:245600
HP:0034669	Abnormal knee morphology	54880	BCOR	ORPHA:2712
HP:0034669	Abnormal knee morphology	815	CAMK2A	OMIM:617798
HP:0034669	Abnormal knee morphology	10381	TUBB3	ORPHA:300570
HP:0034669	Abnormal knee morphology	55699	IARS2	ORPHA:436174
HP:0034669	Abnormal knee morphology	55699	IARS2	OMIM:616007
HP:0034669	Abnormal knee morphology	83480	PUS3	ORPHA:488627
HP:0034669	Abnormal knee morphology	157680	VPS13B	OMIM:216550
HP:0034669	Abnormal knee morphology	157680	VPS13B	ORPHA:193
HP:0034669	Abnormal knee morphology	5566	PRKACA	ORPHA:289
HP:0034669	Abnormal knee morphology	5566	PRKACA	OMIM:619142
HP:0034669	Abnormal knee morphology	5567	PRKACB	ORPHA:289
HP:0034669	Abnormal knee morphology	5567	PRKACB	OMIM:619143
HP:0034669	Abnormal knee morphology	2735	GLI1	ORPHA:289
HP:0034669	Abnormal knee morphology	2735	GLI1	OMIM:618123
HP:0034669	Abnormal knee morphology	2121	EVC	ORPHA:289
HP:0034669	Abnormal knee morphology	2121	EVC	OMIM:225500
HP:0034669	Abnormal knee morphology	51626	DYNC2LI1	ORPHA:289
HP:0034669	Abnormal knee morphology	132884	EVC2	ORPHA:289
HP:0034669	Abnormal knee morphology	132884	EVC2	OMIM:225500
HP:0034669	Abnormal knee morphology	9839	ZEB2	ORPHA:261552
HP:0034669	Abnormal knee morphology	9839	ZEB2	ORPHA:261537
HP:0034669	Abnormal knee morphology	4763	NF1	ORPHA:363700
HP:0034669	Abnormal knee morphology	4763	NF1	OMIM:162200
HP:0034669	Abnormal knee morphology	2720	GLB1	OMIM:253010
HP:0034669	Abnormal knee morphology	3425	IDUA	OMIM:607016
HP:0034669	Abnormal knee morphology	374654	KIF7	OMIM:607131
HP:0034669	Abnormal knee morphology	374654	KIF7	ORPHA:166024
HP:0034669	Abnormal knee morphology	5376	PMP22	ORPHA:3115
HP:0034669	Abnormal knee morphology	4359	MPZ	ORPHA:3115
HP:0034669	Abnormal knee morphology	1588	CYP19A1	ORPHA:91
HP:0034669	Abnormal knee morphology	9653	HS2ST1	OMIM:619194
HP:0034669	Abnormal knee morphology	5251	PHEX	ORPHA:89936
HP:0034669	Abnormal knee morphology	5251	PHEX	OMIM:307800
HP:0034669	Abnormal knee morphology	3043	HBB	ORPHA:231214
HP:0034669	Abnormal knee morphology	3043	HBB	ORPHA:231226
HP:0034669	Abnormal knee morphology	5593	PRKG2	OMIM:619636
HP:0034669	Abnormal knee morphology	55027	HEATR3	OMIM:620072
HP:0034669	Abnormal knee morphology	26137	ZBTB20	OMIM:259050
HP:0034669	Abnormal knee morphology	8838	CCN6	ORPHA:1159
HP:0034669	Abnormal knee morphology	6473	SHOX	ORPHA:314795
HP:0034669	Abnormal knee morphology	6473	SHOX	ORPHA:240
HP:0034669	Abnormal knee morphology	7030	TFE3	OMIM:301066
HP:0034669	Abnormal knee morphology	23162	MAPK8IP3	OMIM:618443
HP:0034669	Abnormal knee morphology	9394	HS6ST1	OMIM:614880
HP:0034669	Abnormal knee morphology	23483	TGDS	OMIM:616145
HP:0034669	Abnormal knee morphology	3977	LIFR	ORPHA:3206
HP:0034669	Abnormal knee morphology	546	ATRX	OMIM:309580
HP:0034669	Abnormal knee morphology	5167	ENPP1	OMIM:613312
HP:0034669	Abnormal knee morphology	7994	KAT6A	OMIM:616268
HP:0034669	Abnormal knee morphology	3339	HSPG2	ORPHA:800
HP:0034669	Abnormal knee morphology	1186	CLCN7	ORPHA:53
HP:0034669	Abnormal knee morphology	1301	COL11A1	ORPHA:250984
HP:0034669	Abnormal knee morphology	1301	COL11A1	ORPHA:560
HP:0034669	Abnormal knee morphology	1297	COL9A1	ORPHA:250984
HP:0034669	Abnormal knee morphology	1297	COL9A1	ORPHA:166002
HP:0034669	Abnormal knee morphology	1297	COL9A1	OMIM:614134
HP:0034669	Abnormal knee morphology	1298	COL9A2	ORPHA:250984
HP:0034669	Abnormal knee morphology	1298	COL9A2	ORPHA:166002
HP:0034669	Abnormal knee morphology	1299	COL9A3	ORPHA:250984
HP:0034669	Abnormal knee morphology	1299	COL9A3	ORPHA:166002
HP:0034669	Abnormal knee morphology	84695	LOXL3	ORPHA:250984
HP:0034669	Abnormal knee morphology	2200	FBN1	ORPHA:2462
HP:0034669	Abnormal knee morphology	6497	SKI	ORPHA:2462
HP:0034669	Abnormal knee morphology	6497	SKI	OMIM:182212
HP:0034669	Abnormal knee morphology	55081	IFT57	OMIM:617927
HP:0034669	Abnormal knee morphology	865	CBFB	OMIM:620099
HP:0034669	Abnormal knee morphology	54808	DYM	ORPHA:239
HP:0034669	Abnormal knee morphology	54808	DYM	OMIM:607326
HP:0034669	Abnormal knee morphology	54808	DYM	OMIM:223800
HP:0034669	Abnormal knee morphology	8600	TNFSF11	OMIM:259710
HP:0034669	Abnormal knee morphology	9361	LONP1	OMIM:600373
HP:0034669	Abnormal knee morphology	10466	COG5	ORPHA:263487
HP:0034669	Abnormal knee morphology	579	NKX3-2	OMIM:613330
HP:0034669	Abnormal knee morphology	26160	IFT172	OMIM:615630
HP:0034669	Abnormal knee morphology	2335	FN1	ORPHA:93315
HP:0034669	Abnormal knee morphology	23394	ADNP	OMIM:615873
HP:0034669	Abnormal knee morphology	7681	MKRN3	OMIM:176270
HP:0034669	Abnormal knee morphology	3653	IPW	OMIM:176270
HP:0034669	Abnormal knee morphology	54551	MAGEL2	OMIM:176270
HP:0034669	Abnormal knee morphology	791114	PWRN1	OMIM:176270
HP:0034669	Abnormal knee morphology	100033413	SNORD116-1	OMIM:176270
HP:0034669	Abnormal knee morphology	8924	HERC2	OMIM:176270
HP:0034669	Abnormal knee morphology	145624	PWAR1	OMIM:176270
HP:0034669	Abnormal knee morphology	23742	NPAP1	OMIM:176270
HP:0034669	Abnormal knee morphology	338433	SNORD115-1	OMIM:176270
HP:0034669	Abnormal knee morphology	4148	MATN3	ORPHA:93311
HP:0034669	Abnormal knee morphology	4148	MATN3	OMIM:607078
HP:0034669	Abnormal knee morphology	411	ARSB	OMIM:253200
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:156530
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:168400
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:184095
HP:0034669	Abnormal knee morphology	8882	ZPR1	OMIM:619321
HP:0034669	Abnormal knee morphology	137682	NDUFAF6	OMIM:618913
HP:0034669	Abnormal knee morphology	55784	MCTP2	ORPHA:1596
HP:0034669	Abnormal knee morphology	64135	IFIH1	OMIM:182250
HP:0034669	Abnormal knee morphology	153642	ARSK	OMIM:619698
HP:0034669	Abnormal knee morphology	84068	SLC10A7	OMIM:618363
HP:0034669	Abnormal knee morphology	5604	MAP2K1	ORPHA:1340
HP:0034669	Abnormal knee morphology	5605	MAP2K2	ORPHA:1340
HP:0034669	Abnormal knee morphology	3845	KRAS	ORPHA:1340
HP:0034669	Abnormal knee morphology	673	BRAF	ORPHA:1340
HP:0034669	Abnormal knee morphology	23111	SPART	ORPHA:101000
HP:0034669	Abnormal knee morphology	9451	EIF2AK3	OMIM:226980
HP:0034669	Abnormal knee morphology	54681	P4HTM	OMIM:618493
HP:0034669	Abnormal knee morphology	860	RUNX2	ORPHA:1452
HP:0034669	Abnormal knee morphology	3930	LBR	OMIM:618019
HP:0034669	Abnormal knee morphology	1954	MEGF8	ORPHA:65759
HP:0034669	Abnormal knee morphology	1300	COL10A1	OMIM:156500
HP:0034669	Abnormal knee morphology	6424	SFRP4	OMIM:265900
HP:0034669	Abnormal knee morphology	10526	IPO8	OMIM:619472
HP:0034669	Abnormal knee morphology	6711	SPTBN1	OMIM:619475
HP:0034669	Abnormal knee morphology	2588	GALNS	OMIM:253000
HP:0034669	Abnormal knee morphology	80152	CENPT	OMIM:618702
HP:0034669	Abnormal knee morphology	4796	TONSL	ORPHA:93357
HP:0034669	Abnormal knee morphology	4796	TONSL	OMIM:271510
HP:0034669	Abnormal knee morphology	5184	PEPD	ORPHA:742
HP:0034669	Abnormal knee morphology	7227	TRPS1	ORPHA:502
HP:0034669	Abnormal knee morphology	374879	ZNF699	OMIM:619488
HP:0034669	Abnormal knee morphology	10651	MTX2	OMIM:619127
HP:0034669	Abnormal knee morphology	4322	MMP13	OMIM:250400
HP:0034669	Abnormal knee morphology	126792	B3GALT6	OMIM:271640
HP:0034669	Abnormal knee morphology	89970	RSPRY1	ORPHA:457395
HP:0034669	Abnormal knee morphology	2990	GUSB	OMIM:253220
HP:0034669	Abnormal knee morphology	8139	GAN	ORPHA:643
HP:0034669	Abnormal knee morphology	26229	B3GAT3	OMIM:245600
HP:0034669	Abnormal knee morphology	83452	RAB33B	OMIM:615222
HP:0034669	Abnormal knee morphology	80169	CTC1	OMIM:612199
HP:0034669	Abnormal knee morphology	25871	NEPRO	OMIM:618853
HP:0034669	Abnormal knee morphology	871	SERPINH1	OMIM:613848
HP:0034669	Abnormal knee morphology	1576	CYP3A4	OMIM:619073
HP:0034669	Abnormal knee morphology	65992	DDRGK1	OMIM:602557
HP:0034669	Abnormal knee morphology	65992	DDRGK1	ORPHA:93352
HP:0034669	Abnormal knee morphology	1594	CYP27B1	ORPHA:289157
HP:0034669	Abnormal knee morphology	120227	CYP2R1	ORPHA:289157
HP:0034669	Abnormal knee morphology	55325	UFSP2	OMIM:617974
HP:0034669	Abnormal knee morphology	11128	POLR3A	OMIM:264090
HP:0034669	Abnormal knee morphology	2261	FGFR3	ORPHA:429
HP:0034669	Abnormal knee morphology	2261	FGFR3	OMIM:146000
HP:0034669	Abnormal knee morphology	2261	FGFR3	OMIM:100800
HP:0034669	Abnormal knee morphology	9321	TRIP11	OMIM:184260
HP:0034669	Abnormal knee morphology	79631	EFL1	OMIM:617941
HP:0034669	Abnormal knee morphology	3417	IDH1	ORPHA:99646
HP:0034669	Abnormal knee morphology	284403	WDR62	OMIM:604317
HP:0034669	Abnormal knee morphology	4318	MMP9	OMIM:613073
HP:0034669	Abnormal knee morphology	3549	IHH	ORPHA:63446
HP:0034669	Abnormal knee morphology	3549	IHH	OMIM:607778
HP:0034669	Abnormal knee morphology	1758	DMP1	ORPHA:289176
HP:0034669	Abnormal knee morphology	4052	LTBP1	OMIM:619451
HP:0034669	Abnormal knee morphology	6137	RPL13	OMIM:618728
HP:0034669	Abnormal knee morphology	3248	HPGD	ORPHA:2796
HP:0034669	Abnormal knee morphology	6578	SLCO2A1	ORPHA:2796
HP:0034669	Abnormal knee morphology	26123	TCTN3	ORPHA:2753
HP:0034669	Abnormal knee morphology	633	BGN	OMIM:300106
HP:0034669	Abnormal knee morphology	5442	POLRMT	OMIM:619743
HP:0034669	Abnormal knee morphology	6023	RMRP	OMIM:250460
HP:0034669	Abnormal knee morphology	64682	ANAPC1	ORPHA:221008
HP:0034669	Abnormal knee morphology	375	ARF1	ORPHA:98892
HP:0034669	Abnormal knee morphology	4131	MAP1B	ORPHA:98892
HP:0034669	Abnormal knee morphology	2316	FLNA	ORPHA:98892
HP:0034669	Abnormal knee morphology	23327	NEDD4L	ORPHA:98892
HP:0034669	Abnormal knee morphology	160418	TMTC3	ORPHA:98892
HP:0034669	Abnormal knee morphology	10564	ARFGEF2	ORPHA:98892
HP:0034669	Abnormal knee morphology	55780	ERMARD	ORPHA:98892
HP:0034669	Abnormal knee morphology	50515	CHST11	OMIM:618167
HP:0034669	Abnormal knee morphology	1387	CREBBP	OMIM:180849
HP:0034669	Abnormal knee morphology	1387	CREBBP	ORPHA:353277
HP:0034669	Abnormal knee morphology	1387	CREBBP	ORPHA:353281
HP:0034669	Abnormal knee morphology	2033	EP300	OMIM:180849
HP:0034669	Abnormal knee morphology	2033	EP300	ORPHA:353284
HP:0034669	Abnormal knee morphology	23522	KAT6B	OMIM:606170
HP:0034669	Abnormal knee morphology	23522	KAT6B	OMIM:603736
HP:0034669	Abnormal knee morphology	7528	YY1	OMIM:617557
HP:0034669	Abnormal knee morphology	4010	LMX1B	ORPHA:2614
HP:0034669	Abnormal knee morphology	4010	LMX1B	OMIM:161200
HP:0034669	Abnormal knee morphology	4010	LMX1B	ORPHA:495818
HP:0034669	Abnormal knee morphology	91461	PKDCC	OMIM:618821
HP:0034669	Abnormal knee morphology	6804	STX1A	ORPHA:904
HP:0034669	Abnormal knee morphology	7461	CLIP2	ORPHA:904
HP:0034669	Abnormal knee morphology	84277	DNAJC30	ORPHA:904
HP:0034669	Abnormal knee morphology	8468	FKBP6	ORPHA:904
HP:0034669	Abnormal knee morphology	5982	RFC2	ORPHA:904
HP:0034669	Abnormal knee morphology	2969	GTF2I	ORPHA:904
HP:0034669	Abnormal knee morphology	3984	LIMK1	ORPHA:904
HP:0034669	Abnormal knee morphology	9569	GTF2IRD1	ORPHA:904
HP:0034669	Abnormal knee morphology	155382	VPS37D	ORPHA:904
HP:0034669	Abnormal knee morphology	155368	METTL27	ORPHA:904
HP:0034669	Abnormal knee morphology	114049	BUD23	ORPHA:904
HP:0034669	Abnormal knee morphology	7458	EIF4H	ORPHA:904
HP:0034669	Abnormal knee morphology	84163	GTF2IRD2	ORPHA:904
HP:0034669	Abnormal knee morphology	9275	BCL7B	ORPHA:904
HP:0034669	Abnormal knee morphology	26608	TBL2	ORPHA:904
HP:0034669	Abnormal knee morphology	653361	NCF1	ORPHA:904
HP:0034669	Abnormal knee morphology	135886	TMEM270	ORPHA:904
HP:0034669	Abnormal knee morphology	51085	MLXIPL	ORPHA:904
HP:0034669	Abnormal knee morphology	9031	BAZ1B	ORPHA:904
HP:0034669	Abnormal knee morphology	2006	ELN	ORPHA:904
HP:0034669	Abnormal knee morphology	9496	TBX4	OMIM:147891
HP:0034669	Abnormal knee morphology	9939	RBM8A	ORPHA:3320
HP:0034669	Abnormal knee morphology	9939	RBM8A	OMIM:274000
HP:0034669	Abnormal knee morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0034669	Abnormal knee morphology	8200	GDF5	ORPHA:968
HP:0034669	Abnormal knee morphology	8200	GDF5	OMIM:228900
HP:0034669	Abnormal knee morphology	5351	PLOD1	ORPHA:1900
HP:0034669	Abnormal knee morphology	1312	COMT	ORPHA:567
HP:0034669	Abnormal knee morphology	221037	JMJD1C	ORPHA:567
HP:0034669	Abnormal knee morphology	2812	GP1BB	ORPHA:567
HP:0034669	Abnormal knee morphology	6239	RREB1	ORPHA:567
HP:0034669	Abnormal knee morphology	6899	TBX1	ORPHA:567
HP:0034669	Abnormal knee morphology	6899	TBX1	OMIM:188400
HP:0034669	Abnormal knee morphology	7290	HIRA	ORPHA:567
HP:0034669	Abnormal knee morphology	9632	SEC24C	ORPHA:567
HP:0034669	Abnormal knee morphology	7353	UFD1	ORPHA:567
HP:0034669	Abnormal knee morphology	421	ARVCF	ORPHA:567
HP:0034669	Abnormal knee morphology	64131	XYLT1	ORPHA:1425
HP:0034669	Abnormal knee morphology	124583	CANT1	ORPHA:1425
HP:0034669	Abnormal knee morphology	55790	CSGALNACT1	ORPHA:1425
HP:0034669	Abnormal knee morphology	2317	FLNB	ORPHA:56305
HP:0034669	Abnormal knee morphology	10682	EBP	OMIM:302960
HP:0034669	Abnormal knee morphology	10682	EBP	ORPHA:35173
HP:0034669	Abnormal knee morphology	1277	COL1A1	ORPHA:287
HP:0034669	Abnormal knee morphology	1289	COL5A1	ORPHA:287
HP:0034669	Abnormal knee morphology	1290	COL5A2	ORPHA:287
HP:0034669	Abnormal knee morphology	54928	BPNT2	OMIM:614078
HP:0034669	Abnormal knee morphology	23233	EXOC6B	OMIM:618395
HP:0034669	Abnormal knee morphology	2535	FZD2	ORPHA:93328
HP:0034669	Abnormal knee morphology	6812	STXBP1	ORPHA:495818
HP:0034669	Abnormal knee morphology	2201	FBN2	OMIM:121050
HP:0034669	Abnormal knee morphology	4853	NOTCH2	ORPHA:955
HP:0034669	Abnormal knee morphology	4952	OCRL	ORPHA:534
HP:0034669	Abnormal knee morphology	10804	GJB6	ORPHA:477
HP:0034669	Abnormal knee morphology	2706	GJB2	ORPHA:477
HP:0034669	Abnormal knee morphology	57688	ZSWIM6	ORPHA:1827
HP:0034669	Abnormal knee morphology	57688	ZSWIM6	OMIM:603671
HP:0034669	Abnormal knee morphology	5307	PITX1	OMIM:119800
HP:0034669	Abnormal knee morphology	55148	UBR7	OMIM:619189
HP:0034669	Abnormal knee morphology	29980	DONSON	OMIM:617604
HP:0034669	Abnormal knee morphology	6662	SOX9	OMIM:114290
HP:0034669	Abnormal knee morphology	54496	PRMT7	ORPHA:464288
HP:0034669	Abnormal knee morphology	10586	MAB21L2	OMIM:615877
HP:0034669	Abnormal knee morphology	6261	RYR1	ORPHA:178145
HP:0034669	Abnormal knee morphology	63895	PIEZO2	OMIM:108145
HP:0034669	Abnormal knee morphology	4088	SMAD3	ORPHA:284984
HP:0034669	Abnormal knee morphology	4088	SMAD3	OMIM:613795
HP:0034669	Abnormal knee morphology	6399	TRAPPC2	ORPHA:93284
HP:0034669	Abnormal knee morphology	6775	STAT4	ORPHA:85408
HP:0034669	Abnormal knee morphology	6775	STAT4	ORPHA:85410
HP:0034669	Abnormal knee morphology	3560	IL2RB	ORPHA:85408
HP:0034669	Abnormal knee morphology	3560	IL2RB	ORPHA:85410
HP:0034669	Abnormal knee morphology	79722	ANKRD55	ORPHA:85408
HP:0034669	Abnormal knee morphology	79722	ANKRD55	ORPHA:85410
HP:0034669	Abnormal knee morphology	26191	PTPN22	ORPHA:85408
HP:0034669	Abnormal knee morphology	26191	PTPN22	ORPHA:85410
HP:0034669	Abnormal knee morphology	919	CD247	ORPHA:85408
HP:0034669	Abnormal knee morphology	919	CD247	ORPHA:85410
HP:0034669	Abnormal knee morphology	3559	IL2RA	ORPHA:85408
HP:0034669	Abnormal knee morphology	3559	IL2RA	ORPHA:85410
HP:0034669	Abnormal knee morphology	5771	PTPN2	ORPHA:85408
HP:0034669	Abnormal knee morphology	5771	PTPN2	ORPHA:85410
HP:0034669	Abnormal knee morphology	4087	SMAD2	OMIM:619656
HP:0034669	Abnormal knee morphology	10216	PRG4	ORPHA:2848
HP:0034669	Abnormal knee morphology	11160	ERLIN2	ORPHA:280384
HP:0034669	Abnormal knee morphology	11160	ERLIN2	ORPHA:209951
HP:0034669	Abnormal knee morphology	4921	DDR2	OMIM:271665
HP:0034669	Abnormal knee morphology	23141	ANKLE2	OMIM:616681
HP:0034669	Abnormal knee morphology	8506	CNTNAP1	OMIM:616286
HP:0034669	Abnormal knee morphology	1756	DMD	OMIM:310200
HP:0034669	Abnormal knee morphology	5352	PLOD2	OMIM:609220
HP:0034669	Abnormal knee morphology	1291	COL6A1	ORPHA:75840
HP:0034669	Abnormal knee morphology	1292	COL6A2	ORPHA:75840
HP:0034669	Abnormal knee morphology	1293	COL6A3	ORPHA:75840
HP:0034669	Abnormal knee morphology	6840	SVIL	OMIM:619040
HP:0034669	Abnormal knee morphology	91179	SCARF2	OMIM:600920
HP:0034669	Abnormal knee morphology	3714	JAG2	OMIM:619566
HP:0034669	Abnormal knee morphology	51506	UFC1	OMIM:618076
HP:0034669	Abnormal knee morphology	4649	MYO9A	OMIM:618198
HP:0034669	Abnormal knee morphology	6616	SNAP25	OMIM:616330
HP:0034669	Abnormal knee morphology	2067	ERCC1	OMIM:610758
HP:0034669	Abnormal knee morphology	29925	GMPPB	ORPHA:353327
HP:0034669	Abnormal knee morphology	2673	GFPT1	ORPHA:353327
HP:0034669	Abnormal knee morphology	1798	DPAGT1	ORPHA:353327
HP:0034669	Abnormal knee morphology	85365	ALG2	ORPHA:353327
HP:0034669	Abnormal knee morphology	85365	ALG2	OMIM:616228
HP:0034669	Abnormal knee morphology	199857	ALG14	ORPHA:353327
HP:0034669	Abnormal knee morphology	79158	GNPTAB	ORPHA:576
HP:0034669	Abnormal knee morphology	1146	CHRNG	OMIM:265000
HP:0034669	Abnormal knee morphology	2273	FHL1	OMIM:300695
HP:0034669	Abnormal knee morphology	4621	MYH3	OMIM:193700
HP:0034669	Abnormal knee morphology	4621	MYH3	OMIM:178110
HP:0034669	Abnormal knee morphology	23321	TRIM2	OMIM:615490
HP:0034669	Abnormal knee morphology	92255	LMBRD2	OMIM:619694
HP:0034669	Abnormal knee morphology	2010	EMD	OMIM:310300
HP:0034669	Abnormal knee morphology	29968	PSAT1	ORPHA:284417
HP:0034669	Abnormal knee morphology	57190	SELENON	ORPHA:2020
HP:0034669	Abnormal knee morphology	4633	MYL2	ORPHA:2020
HP:0034669	Abnormal knee morphology	3679	ITGA7	ORPHA:2020
HP:0034669	Abnormal knee morphology	9200	HACD1	ORPHA:2020
HP:0034669	Abnormal knee morphology	7170	TPM3	ORPHA:2020
HP:0034669	Abnormal knee morphology	51776	MAP3K20	ORPHA:2020
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:619621
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:616531
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:619708
HP:0034669	Abnormal knee morphology	127833	SYT2	OMIM:619461
HP:0034669	Abnormal knee morphology	5277	PIGA	OMIM:300868
HP:0034669	Abnormal knee morphology	2783	GNB2	OMIM:619503
HP:0034669	Abnormal knee morphology	4632	MYL1	OMIM:618414
HP:0034669	Abnormal knee morphology	79644	SRD5A3	OMIM:612713
HP:0034669	Abnormal knee morphology	9531	BAG3	OMIM:612954
HP:0034669	Abnormal knee morphology	2074	ERCC6	OMIM:214150
HP:0034669	Abnormal knee morphology	9051	PSTPIP1	OMIM:604416
HP:0034669	Abnormal knee morphology	9791	PTDSS1	OMIM:151050
HP:0034669	Abnormal knee morphology	29895	MYL11	OMIM:619110
HP:0034669	Abnormal knee morphology	9894	TELO2	ORPHA:488642
HP:0034669	Abnormal knee morphology	259232	NALCN	ORPHA:371364
HP:0034669	Abnormal knee morphology	259232	NALCN	OMIM:616266
HP:0034669	Abnormal knee morphology	285175	UNC80	ORPHA:371364
HP:0034669	Abnormal knee morphology	25914	RTTN	ORPHA:468631
HP:0034669	Abnormal knee morphology	157570	ESCO2	ORPHA:3103
HP:0034669	Abnormal knee morphology	157570	ESCO2	OMIM:268300
HP:0034669	Abnormal knee morphology	84992	PIGY	OMIM:616809
HP:0034669	Abnormal knee morphology	10613	ERLIN1	ORPHA:401785
HP:0034669	Abnormal knee morphology	6134	RPL10	ORPHA:435938
HP:0034669	Abnormal knee morphology	22978	NT5C2	ORPHA:320396
HP:0034669	Abnormal knee morphology	2222	FDFT1	OMIM:618156
HP:0034669	Abnormal knee morphology	83636	C19orf12	OMIM:615043
HP:0034669	Abnormal knee morphology	163175	LGI4	OMIM:617468
HP:0034669	Abnormal knee morphology	4773	NFATC2	OMIM:620232
HP:0034669	Abnormal knee morphology	1376	CPT2	OMIM:608836
HP:0034669	Abnormal knee morphology	5296	PIK3R2	OMIM:603387
HP:0034669	Abnormal knee morphology	23387	SIK3	OMIM:618162
HP:0034669	Abnormal knee morphology	23299	BICD2	OMIM:615290
HP:0034669	Abnormal knee morphology	8813	DPM1	OMIM:608799
HP:0034669	Abnormal knee morphology	8813	DPM1	ORPHA:79322
HP:0034669	Abnormal knee morphology	5745	PTH1R	OMIM:156400
HP:0034669	Abnormal knee morphology	339855	KY	ORPHA:496689
HP:0034669	Abnormal knee morphology	6572	SLC18A3	OMIM:617239
HP:0034669	Abnormal knee morphology	6389	SDHA	ORPHA:3208
HP:0034669	Abnormal knee morphology	6390	SDHB	ORPHA:3208
HP:0034669	Abnormal knee morphology	6392	SDHD	ORPHA:3208
HP:0034669	Abnormal knee morphology	644096	SDHAF1	ORPHA:3208
HP:0034669	Abnormal knee morphology	7317	UBA1	ORPHA:1145
HP:0034669	Abnormal knee morphology	55681	SCYL2	ORPHA:1143
HP:0034669	Abnormal knee morphology	84570	COL25A1	ORPHA:1143
HP:0034669	Abnormal knee morphology	57222	ERGIC1	ORPHA:1143
HP:0034669	Abnormal knee morphology	64116	SLC39A8	ORPHA:468699
HP:0034669	Abnormal knee morphology	91137	SLC25A46	OMIM:619303
HP:0034669	Abnormal knee morphology	1140	CHRNB1	OMIM:616313
HP:0034669	Abnormal knee morphology	529	ATP6V1E1	OMIM:617402
HP:0034669	Abnormal knee morphology	8449	DHX16	OMIM:618733
HP:0034669	Abnormal knee morphology	2737	GLI3	ORPHA:93322
HP:0034669	Abnormal knee morphology	51715	RAB23	OMIM:201000
HP:0034669	Abnormal knee morphology	7476	WNT7A	OMIM:228930
HP:0034669	Abnormal knee morphology	727857	BHLHA9	ORPHA:3329
HP:0034669	Abnormal knee morphology	64327	LMBR1	ORPHA:988
HP:0034669	Abnormal knee morphology	64327	LMBR1	OMIM:135750
HP:0034669	Abnormal knee morphology	6469	SHH	ORPHA:988
HP:0034669	Abnormal knee morphology	81620	CDT1	ORPHA:2554
HP:0034669	Abnormal knee morphology	81620	CDT1	OMIM:613804
HP:0034669	Abnormal knee morphology	5000	ORC4	ORPHA:2554
HP:0034669	Abnormal knee morphology	5000	ORC4	OMIM:613800
HP:0034669	Abnormal knee morphology	990	CDC6	ORPHA:2554
HP:0034669	Abnormal knee morphology	990	CDC6	OMIM:613805
HP:0034669	Abnormal knee morphology	51053	GMNN	ORPHA:2554
HP:0034669	Abnormal knee morphology	51053	GMNN	OMIM:616835
HP:0034669	Abnormal knee morphology	3835	KIF22	OMIM:603546
HP:0034669	Abnormal knee morphology	57492	ARID1B	OMIM:135900
HP:0034669	Abnormal knee morphology	8318	CDC45	OMIM:617063
HP:0034669	Abnormal knee morphology	4998	ORC1	OMIM:224690
HP:0034669	Abnormal knee morphology	9401	RECQL4	ORPHA:1225
HP:0034669	Abnormal knee morphology	9401	RECQL4	OMIM:266280
HP:0034669	Abnormal knee morphology	23594	ORC6	OMIM:613803
HP:0034669	Abnormal knee morphology	60681	FKBP10	ORPHA:1149
HP:0034669	Abnormal knee morphology	1303	COL12A1	ORPHA:536516
HP:0034669	Abnormal knee morphology	8239	USP9X	ORPHA:480880
HP:0034669	Abnormal knee morphology	1788	DNMT3A	OMIM:615879
HP:0034669	Abnormal knee morphology	9131	AIFM1	ORPHA:83629
HP:0034669	Abnormal knee morphology	375056	MIA3	OMIM:619269
HP:0034669	Abnormal knee morphology	1836	SLC26A2	ORPHA:93307
HP:0034669	Abnormal knee morphology	1836	SLC26A2	OMIM:226900
HP:0034669	Abnormal knee morphology	1280	COL2A1	ORPHA:166011
HP:0034669	Abnormal knee morphology	3373	HYAL1	OMIM:601492
HP:0034669	Abnormal knee morphology	114548	NLRP3	OMIM:607115
HP:0034669	Abnormal knee morphology	1311	COMP	ORPHA:750
HP:0004019	Radial metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0004019	Radial metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0004015	Abnormal radial metaphysis morphology	1311	COMP	OMIM:177170
HP:0004015	Abnormal radial metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0034670	Abnormal knee physiology	10717	AP4B1	ORPHA:280763
HP:0034670	Abnormal knee physiology	10717	AP4B1	OMIM:614066
HP:0034670	Abnormal knee physiology	9179	AP4M1	ORPHA:280763
HP:0034670	Abnormal knee physiology	11154	AP4S1	ORPHA:280763
HP:0034670	Abnormal knee physiology	23431	AP4E1	ORPHA:280763
HP:0034670	Abnormal knee physiology	6497	SKI	OMIM:182212
HP:0034670	Abnormal knee physiology	11285	B4GALT7	OMIM:130070
HP:0034670	Abnormal knee physiology	4123	MAN2C1	OMIM:619775
HP:0034670	Abnormal knee physiology	2200	FBN1	OMIM:154700
HP:0034670	Abnormal knee physiology	2892	GRIA3	ORPHA:364028
HP:0034670	Abnormal knee physiology	4998	ORC1	OMIM:224690
HP:0034670	Abnormal knee physiology	1278	COL1A2	OMIM:225320
HP:0034670	Abnormal knee physiology	1278	COL1A2	ORPHA:230851
HP:0034670	Abnormal knee physiology	3265	HRAS	ORPHA:2612
HP:0034670	Abnormal knee physiology	3845	KRAS	ORPHA:2612
HP:0034670	Abnormal knee physiology	4893	NRAS	ORPHA:2612
HP:0034670	Abnormal knee physiology	9469	CHST3	OMIM:143095
HP:0034670	Abnormal knee physiology	57479	PRR12	OMIM:619539
HP:0034670	Abnormal knee physiology	2006	ELN	ORPHA:90348
HP:0034670	Abnormal knee physiology	10516	FBLN5	ORPHA:90348
HP:0034670	Abnormal knee physiology	5832	ALDH18A1	ORPHA:90348
HP:0034670	Abnormal knee physiology	285590	SH3PXD2B	ORPHA:137834
HP:0034670	Abnormal knee physiology	1073	CFL2	OMIM:610687
HP:0034670	Abnormal knee physiology	8936	WASF1	OMIM:618707
HP:0034670	Abnormal knee physiology	64131	XYLT1	ORPHA:1425
HP:0034670	Abnormal knee physiology	124583	CANT1	ORPHA:1425
HP:0034670	Abnormal knee physiology	1311	COMP	OMIM:177170
HP:0034670	Abnormal knee physiology	9150	CTDP1	OMIM:604168
HP:0034670	Abnormal knee physiology	9321	TRIP11	OMIM:184260
HP:0034670	Abnormal knee physiology	6536	SLC6A9	OMIM:617301
HP:0034670	Abnormal knee physiology	5728	PTEN	ORPHA:2969
HP:0034670	Abnormal knee physiology	2245	FGD1	ORPHA:915
HP:0034670	Abnormal knee physiology	81620	CDT1	OMIM:613804
HP:0034670	Abnormal knee physiology	57192	MCOLN1	ORPHA:578
HP:0034670	Abnormal knee physiology	203859	ANO5	ORPHA:206549
HP:0034670	Abnormal knee physiology	56896	DPYSL5	OMIM:619435
HP:0034670	Abnormal knee physiology	55790	CSGALNACT1	OMIM:618870
HP:0034670	Abnormal knee physiology	1299	COL9A3	OMIM:600969
HP:0034670	Abnormal knee physiology	10082	GPC6	OMIM:258315
HP:0034670	Abnormal knee physiology	2201	FBN2	OMIM:121050
HP:0034670	Abnormal knee physiology	2146	EZH2	OMIM:277590
HP:0034670	Abnormal knee physiology	538	ATP7A	OMIM:304150
HP:0034670	Abnormal knee physiology	6335	SCN9A	ORPHA:33069
HP:0034670	Abnormal knee physiology	6335	SCN9A	ORPHA:36387
HP:0034670	Abnormal knee physiology	6326	SCN2A	ORPHA:33069
HP:0034670	Abnormal knee physiology	6326	SCN2A	ORPHA:36387
HP:0034670	Abnormal knee physiology	2554	GABRA1	ORPHA:33069
HP:0034670	Abnormal knee physiology	6323	SCN1A	ORPHA:33069
HP:0034670	Abnormal knee physiology	6323	SCN1A	ORPHA:36387
HP:0034670	Abnormal knee physiology	6324	SCN1B	ORPHA:33069
HP:0034670	Abnormal knee physiology	6324	SCN1B	ORPHA:36387
HP:0034670	Abnormal knee physiology	57526	PCDH19	ORPHA:33069
HP:0034670	Abnormal knee physiology	2566	GABRG2	ORPHA:33069
HP:0034670	Abnormal knee physiology	2566	GABRG2	ORPHA:36387
HP:0034670	Abnormal knee physiology	112755	STX1B	ORPHA:36387
HP:0034670	Abnormal knee physiology	2563	GABRD	ORPHA:36387
HP:0034670	Abnormal knee physiology	348980	HCN1	ORPHA:36387
HP:0034670	Abnormal knee physiology	84059	ADGRV1	ORPHA:36387
HP:0034670	Abnormal knee physiology	54808	DYM	ORPHA:239
HP:0034670	Abnormal knee physiology	3187	HNRNPH1	OMIM:620083
HP:0034670	Abnormal knee physiology	2317	FLNB	ORPHA:56305
HP:0034670	Abnormal knee physiology	2317	FLNB	OMIM:150250
HP:0034670	Abnormal knee physiology	2317	FLNB	OMIM:108721
HP:0034670	Abnormal knee physiology	2317	FLNB	OMIM:108720
HP:0034670	Abnormal knee physiology	26229	B3GAT3	OMIM:245600
HP:0034670	Abnormal knee physiology	6261	RYR1	ORPHA:178145
HP:0034670	Abnormal knee physiology	79989	IFT56	OMIM:619534
HP:0034670	Abnormal knee physiology	54928	BPNT2	OMIM:614078
HP:0034670	Abnormal knee physiology	23233	EXOC6B	OMIM:618395
HP:0034670	Abnormal knee physiology	84068	SLC10A7	OMIM:618363
HP:0034670	Abnormal knee physiology	165	AEBP1	OMIM:618000
HP:0034670	Abnormal knee physiology	165	AEBP1	ORPHA:536532
HP:0034670	Abnormal knee physiology	23443	SLC35A3	OMIM:615553
HP:0034670	Abnormal knee physiology	23443	SLC35A3	ORPHA:370943
HP:0034670	Abnormal knee physiology	347734	SLC35B2	OMIM:620269
HP:0034670	Abnormal knee physiology	9499	MYOT	ORPHA:266
HP:0034670	Abnormal knee physiology	8291	DYSF	ORPHA:268
HP:0034670	Abnormal knee physiology	1277	COL1A1	OMIM:130060
HP:0034670	Abnormal knee physiology	23345	SYNE1	ORPHA:319332
HP:0034670	Abnormal knee physiology	7415	VCP	ORPHA:435387
HP:0034670	Abnormal knee physiology	2318	FLNC	ORPHA:63273
HP:0034670	Abnormal knee physiology	2316	FLNA	OMIM:311300
HP:0034670	Abnormal knee physiology	9427	ECEL1	OMIM:615065
HP:0034670	Abnormal knee physiology	5159	PDGFRB	OMIM:601812
HP:0034670	Abnormal knee physiology	1289	COL5A1	OMIM:130000
HP:0034670	Abnormal knee physiology	2131	EXT1	ORPHA:321
HP:0034670	Abnormal knee physiology	2132	EXT2	ORPHA:321
HP:0034670	Abnormal knee physiology	427	ASAH1	OMIM:228000
HP:0034670	Abnormal knee physiology	1861	TOR1A	OMIM:618947
HP:0034670	Abnormal knee physiology	649	BMP1	OMIM:614856
HP:0034670	Abnormal knee physiology	3081	HGD	OMIM:203500
HP:0034670	Abnormal knee physiology	1280	COL2A1	OMIM:183900
HP:0034670	Abnormal knee physiology	6885	MAP3K7	ORPHA:1826
HP:0034670	Abnormal knee physiology	4010	LMX1B	ORPHA:2614
HP:0034670	Abnormal knee physiology	2261	FGFR3	ORPHA:15
HP:0034670	Abnormal knee physiology	4210	MEFV	ORPHA:329967
HP:0034670	Abnormal knee physiology	7132	TNFRSF1A	ORPHA:329967
HP:0034671	Knee contracture	11160	ERLIN2	ORPHA:280384
HP:0034671	Knee contracture	11160	ERLIN2	ORPHA:209951
HP:0034671	Knee contracture	4921	DDR2	OMIM:271665
HP:0034671	Knee contracture	23141	ANKLE2	OMIM:616681
HP:0034671	Knee contracture	8506	CNTNAP1	OMIM:616286
HP:0034671	Knee contracture	100151683	RNU4ATAC	OMIM:210710
HP:0034671	Knee contracture	4010	LMX1B	ORPHA:2614
HP:0034671	Knee contracture	1756	DMD	OMIM:310200
HP:0034671	Knee contracture	5352	PLOD2	OMIM:609220
HP:0034671	Knee contracture	1303	COL12A1	ORPHA:75840
HP:0034671	Knee contracture	1303	COL12A1	ORPHA:536516
HP:0034671	Knee contracture	1291	COL6A1	ORPHA:75840
HP:0034671	Knee contracture	1292	COL6A2	ORPHA:75840
HP:0034671	Knee contracture	1293	COL6A3	ORPHA:75840
HP:0034671	Knee contracture	6840	SVIL	OMIM:619040
HP:0034671	Knee contracture	91179	SCARF2	OMIM:600920
HP:0034671	Knee contracture	3714	JAG2	OMIM:619566
HP:0034671	Knee contracture	51506	UFC1	OMIM:618076
HP:0034671	Knee contracture	4649	MYO9A	OMIM:618198
HP:0034671	Knee contracture	6616	SNAP25	OMIM:616330
HP:0034671	Knee contracture	2201	FBN2	OMIM:121050
HP:0034671	Knee contracture	2067	ERCC1	OMIM:610758
HP:0034671	Knee contracture	29925	GMPPB	ORPHA:353327
HP:0034671	Knee contracture	2673	GFPT1	ORPHA:353327
HP:0034671	Knee contracture	1798	DPAGT1	ORPHA:353327
HP:0034671	Knee contracture	85365	ALG2	ORPHA:353327
HP:0034671	Knee contracture	85365	ALG2	OMIM:616228
HP:0034671	Knee contracture	199857	ALG14	ORPHA:353327
HP:0034671	Knee contracture	79158	GNPTAB	ORPHA:576
HP:0034671	Knee contracture	1146	CHRNG	OMIM:265000
HP:0034671	Knee contracture	2273	FHL1	OMIM:300695
HP:0034671	Knee contracture	2316	FLNA	OMIM:305620
HP:0034671	Knee contracture	4621	MYH3	OMIM:193700
HP:0034671	Knee contracture	4621	MYH3	OMIM:178110
HP:0034671	Knee contracture	23321	TRIM2	OMIM:615490
HP:0034671	Knee contracture	92255	LMBRD2	OMIM:619694
HP:0034671	Knee contracture	23522	KAT6B	OMIM:606170
HP:0034671	Knee contracture	23522	KAT6B	ORPHA:85201
HP:0034671	Knee contracture	2010	EMD	OMIM:310300
HP:0034671	Knee contracture	29968	PSAT1	ORPHA:284417
HP:0034671	Knee contracture	57190	SELENON	ORPHA:2020
HP:0034671	Knee contracture	58	ACTA1	ORPHA:2020
HP:0034671	Knee contracture	4633	MYL2	ORPHA:2020
HP:0034671	Knee contracture	3679	ITGA7	ORPHA:2020
HP:0034671	Knee contracture	7169	TPM2	ORPHA:2020
HP:0034671	Knee contracture	7169	TPM2	OMIM:108120
HP:0034671	Knee contracture	9200	HACD1	ORPHA:2020
HP:0034671	Knee contracture	7170	TPM3	ORPHA:2020
HP:0034671	Knee contracture	51776	MAP3K20	ORPHA:2020
HP:0034671	Knee contracture	5297	PI4KA	OMIM:619621
HP:0034671	Knee contracture	5297	PI4KA	OMIM:616531
HP:0034671	Knee contracture	5297	PI4KA	OMIM:619708
HP:0034671	Knee contracture	3977	LIFR	OMIM:601559
HP:0034671	Knee contracture	3977	LIFR	ORPHA:3206
HP:0034671	Knee contracture	127833	SYT2	OMIM:619461
HP:0034671	Knee contracture	5277	PIGA	OMIM:300868
HP:0034671	Knee contracture	23327	NEDD4L	OMIM:617201
HP:0034671	Knee contracture	1954	MEGF8	OMIM:614976
HP:0034671	Knee contracture	2783	GNB2	OMIM:619503
HP:0034671	Knee contracture	4632	MYL1	OMIM:618414
HP:0034671	Knee contracture	3930	LBR	OMIM:618019
HP:0034671	Knee contracture	79644	SRD5A3	OMIM:612713
HP:0034671	Knee contracture	9531	BAG3	OMIM:612954
HP:0034671	Knee contracture	2074	ERCC6	OMIM:214150
HP:0034671	Knee contracture	9653	HS2ST1	OMIM:619194
HP:0034671	Knee contracture	9051	PSTPIP1	OMIM:604416
HP:0034671	Knee contracture	59341	TRPV4	OMIM:600175
HP:0034671	Knee contracture	10804	GJB6	ORPHA:477
HP:0034671	Knee contracture	2706	GJB2	ORPHA:477
HP:0034671	Knee contracture	2706	GJB2	OMIM:148210
HP:0034671	Knee contracture	9791	PTDSS1	OMIM:151050
HP:0034671	Knee contracture	63895	PIEZO2	OMIM:114300
HP:0034671	Knee contracture	29895	MYL11	OMIM:619110
HP:0034671	Knee contracture	9894	TELO2	ORPHA:488642
HP:0034671	Knee contracture	259232	NALCN	ORPHA:371364
HP:0034671	Knee contracture	259232	NALCN	OMIM:616266
HP:0034671	Knee contracture	285175	UNC80	ORPHA:371364
HP:0034671	Knee contracture	25914	RTTN	ORPHA:468631
HP:0034671	Knee contracture	157570	ESCO2	ORPHA:3103
HP:0034671	Knee contracture	157570	ESCO2	OMIM:268300
HP:0034671	Knee contracture	84992	PIGY	OMIM:616809
HP:0034671	Knee contracture	10613	ERLIN1	ORPHA:401785
HP:0034671	Knee contracture	6134	RPL10	ORPHA:435938
HP:0034671	Knee contracture	26137	ZBTB20	OMIM:259050
HP:0034671	Knee contracture	22978	NT5C2	ORPHA:320396
HP:0034671	Knee contracture	2222	FDFT1	OMIM:618156
HP:0034671	Knee contracture	83636	C19orf12	OMIM:615043
HP:0034671	Knee contracture	163175	LGI4	OMIM:617468
HP:0034671	Knee contracture	60681	FKBP10	OMIM:259450
HP:0034671	Knee contracture	4773	NFATC2	OMIM:620232
HP:0034671	Knee contracture	1376	CPT2	OMIM:608836
HP:0034671	Knee contracture	5296	PIK3R2	OMIM:603387
HP:0034671	Knee contracture	23387	SIK3	OMIM:618162
HP:0034671	Knee contracture	23299	BICD2	OMIM:615290
HP:0034671	Knee contracture	8813	DPM1	OMIM:608799
HP:0034671	Knee contracture	8813	DPM1	ORPHA:79322
HP:0034671	Knee contracture	5745	PTH1R	OMIM:156400
HP:0034671	Knee contracture	339855	KY	ORPHA:496689
HP:0034671	Knee contracture	6572	SLC18A3	OMIM:617239
HP:0034671	Knee contracture	6389	SDHA	ORPHA:3208
HP:0034671	Knee contracture	6390	SDHB	ORPHA:3208
HP:0034671	Knee contracture	6392	SDHD	ORPHA:3208
HP:0034671	Knee contracture	644096	SDHAF1	ORPHA:3208
HP:0034671	Knee contracture	7317	UBA1	ORPHA:1145
HP:0034671	Knee contracture	55681	SCYL2	ORPHA:1143
HP:0034671	Knee contracture	84570	COL25A1	ORPHA:1143
HP:0034671	Knee contracture	57222	ERGIC1	ORPHA:1143
HP:0034671	Knee contracture	1073	CFL2	OMIM:610687
HP:0034671	Knee contracture	64116	SLC39A8	ORPHA:468699
HP:0034671	Knee contracture	2200	FBN1	OMIM:184900
HP:0034671	Knee contracture	91137	SLC25A46	OMIM:619303
HP:0034671	Knee contracture	1140	CHRNB1	OMIM:616313
HP:0034671	Knee contracture	529	ATP6V1E1	OMIM:617402
HP:0034671	Knee contracture	8449	DHX16	OMIM:618733
HP:0034671	Knee contracture	2737	GLI3	ORPHA:93322
HP:0034673	Abnormal ankle morphology	6775	STAT4	ORPHA:85408
HP:0034673	Abnormal ankle morphology	3560	IL2RB	ORPHA:85408
HP:0034673	Abnormal ankle morphology	79722	ANKRD55	ORPHA:85408
HP:0034673	Abnormal ankle morphology	26191	PTPN22	ORPHA:85408
HP:0034673	Abnormal ankle morphology	919	CD247	ORPHA:85408
HP:0034673	Abnormal ankle morphology	3559	IL2RA	ORPHA:85408
HP:0034673	Abnormal ankle morphology	5771	PTPN2	ORPHA:85408
HP:0034673	Abnormal ankle morphology	9935	MAFB	OMIM:166300
HP:0034673	Abnormal ankle morphology	2324	FLT4	ORPHA:79452
HP:0034673	Abnormal ankle morphology	57165	GJC2	ORPHA:79452
HP:0034673	Abnormal ankle morphology	7421	VDR	OMIM:277440
HP:0034673	Abnormal ankle morphology	120227	CYP2R1	OMIM:600081
HP:0034673	Abnormal ankle morphology	120227	CYP2R1	ORPHA:289157
HP:0034673	Abnormal ankle morphology	1594	CYP27B1	OMIM:264700
HP:0034673	Abnormal ankle morphology	1594	CYP27B1	ORPHA:289157
HP:0034673	Abnormal ankle morphology	1184	CLCN5	OMIM:300554
HP:0034673	Abnormal ankle morphology	1184	CLCN5	OMIM:300009
HP:0034673	Abnormal ankle morphology	4625	MYH7	ORPHA:437572
HP:0034673	Abnormal ankle morphology	142680	SLC34A3	OMIM:241530
HP:0034673	Abnormal ankle morphology	3417	IDH1	ORPHA:99646
HP:0034673	Abnormal ankle morphology	2131	EXT1	ORPHA:321
HP:0034673	Abnormal ankle morphology	2132	EXT2	ORPHA:321
HP:0034673	Abnormal ankle morphology	5119	CHMP1A	OMIM:614961
HP:0034673	Abnormal ankle morphology	3187	HNRNPH1	OMIM:620083
HP:0034673	Abnormal ankle morphology	4125	MAN2B1	ORPHA:309282
HP:0034673	Abnormal ankle morphology	4841	NONO	ORPHA:466791
HP:0034673	Abnormal ankle morphology	1788	DNMT3A	OMIM:615879
HP:0034673	Abnormal ankle morphology	25782	RAB3GAP2	OMIM:212720
HP:0034673	Abnormal ankle morphology	3977	LIFR	OMIM:601559
HP:0034673	Abnormal ankle morphology	6335	SCN9A	ORPHA:36387
HP:0034673	Abnormal ankle morphology	112755	STX1B	ORPHA:36387
HP:0034673	Abnormal ankle morphology	2563	GABRD	ORPHA:36387
HP:0034673	Abnormal ankle morphology	6326	SCN2A	ORPHA:36387
HP:0034673	Abnormal ankle morphology	6323	SCN1A	ORPHA:36387
HP:0034673	Abnormal ankle morphology	6324	SCN1B	ORPHA:36387
HP:0034673	Abnormal ankle morphology	348980	HCN1	ORPHA:36387
HP:0034673	Abnormal ankle morphology	84059	ADGRV1	ORPHA:36387
HP:0034673	Abnormal ankle morphology	2566	GABRG2	ORPHA:36387
HP:0034673	Abnormal ankle morphology	833	CARS1	OMIM:618891
HP:0034673	Abnormal ankle morphology	1300	COL10A1	OMIM:156500
HP:0034673	Abnormal ankle morphology	11160	ERLIN2	ORPHA:280384
HP:0034673	Abnormal ankle morphology	11160	ERLIN2	ORPHA:209951
HP:0034673	Abnormal ankle morphology	25914	RTTN	ORPHA:468631
HP:0034673	Abnormal ankle morphology	1859	DYRK1A	ORPHA:464311
HP:0034673	Abnormal ankle morphology	64324	NSD1	ORPHA:821
HP:0034673	Abnormal ankle morphology	29072	SETD2	ORPHA:821
HP:0034673	Abnormal ankle morphology	10297	APC2	ORPHA:821
HP:0034673	Abnormal ankle morphology	1605	DAG1	OMIM:613818
HP:0034673	Abnormal ankle morphology	1605	DAG1	ORPHA:280333
HP:0034673	Abnormal ankle morphology	6442	SGCA	OMIM:608099
HP:0034673	Abnormal ankle morphology	6840	SVIL	OMIM:619040
HP:0034673	Abnormal ankle morphology	1303	COL12A1	ORPHA:536516
HP:0034673	Abnormal ankle morphology	1303	COL12A1	ORPHA:610
HP:0034673	Abnormal ankle morphology	825	CAPN3	ORPHA:267
HP:0034673	Abnormal ankle morphology	6134	RPL10	ORPHA:435938
HP:0034673	Abnormal ankle morphology	22978	NT5C2	ORPHA:320396
HP:0034673	Abnormal ankle morphology	55958	KLHL9	ORPHA:399081
HP:0034673	Abnormal ankle morphology	6261	RYR1	OMIM:117000
HP:0034673	Abnormal ankle morphology	83636	C19orf12	OMIM:615043
HP:0034673	Abnormal ankle morphology	84876	ORAI1	OMIM:615883
HP:0034673	Abnormal ankle morphology	163175	LGI4	OMIM:617468
HP:0034673	Abnormal ankle morphology	6509	SLC1A4	OMIM:616657
HP:0034673	Abnormal ankle morphology	60681	FKBP10	OMIM:259450
HP:0034673	Abnormal ankle morphology	4773	NFATC2	OMIM:620232
HP:0034673	Abnormal ankle morphology	1291	COL6A1	ORPHA:610
HP:0034673	Abnormal ankle morphology	1291	COL6A1	OMIM:158810
HP:0034673	Abnormal ankle morphology	1292	COL6A2	ORPHA:610
HP:0034673	Abnormal ankle morphology	1292	COL6A2	OMIM:158810
HP:0034673	Abnormal ankle morphology	1293	COL6A3	ORPHA:610
HP:0034673	Abnormal ankle morphology	1293	COL6A3	OMIM:158810
HP:0034673	Abnormal ankle morphology	87178	PNPT1	ORPHA:319514
HP:0034673	Abnormal ankle morphology	26092	TOR1AIP1	OMIM:617072
HP:0034673	Abnormal ankle morphology	2316	FLNA	OMIM:305620
HP:0034673	Abnormal ankle morphology	8813	DPM1	OMIM:608799
HP:0034673	Abnormal ankle morphology	210	ALAD	ORPHA:100924
HP:0034673	Abnormal ankle morphology	513	ATP5F1D	OMIM:618120
HP:0034673	Abnormal ankle morphology	7317	UBA1	ORPHA:1145
HP:0034673	Abnormal ankle morphology	55681	SCYL2	ORPHA:1143
HP:0034673	Abnormal ankle morphology	84570	COL25A1	ORPHA:1143
HP:0034673	Abnormal ankle morphology	57222	ERGIC1	ORPHA:1143
HP:0034673	Abnormal ankle morphology	80208	SPG11	OMIM:616668
HP:0034673	Abnormal ankle morphology	57731	SPTBN4	OMIM:617519
HP:0034673	Abnormal ankle morphology	4313	MMP2	OMIM:259600
HP:0034673	Abnormal ankle morphology	157570	ESCO2	OMIM:268300
HP:0034673	Abnormal ankle morphology	29968	PSAT1	ORPHA:284417
HP:0034673	Abnormal ankle morphology	57190	SELENON	ORPHA:2020
HP:0034673	Abnormal ankle morphology	58	ACTA1	ORPHA:2020
HP:0034673	Abnormal ankle morphology	4633	MYL2	ORPHA:2020
HP:0034673	Abnormal ankle morphology	3679	ITGA7	ORPHA:2020
HP:0034673	Abnormal ankle morphology	7169	TPM2	ORPHA:2020
HP:0034673	Abnormal ankle morphology	9200	HACD1	ORPHA:2020
HP:0034673	Abnormal ankle morphology	7170	TPM3	ORPHA:2020
HP:0034673	Abnormal ankle morphology	51776	MAP3K20	ORPHA:2020
HP:0034673	Abnormal ankle morphology	51776	MAP3K20	OMIM:617760
HP:0034673	Abnormal ankle morphology	5297	PI4KA	OMIM:619621
HP:0034673	Abnormal ankle morphology	497661	C18orf32	OMIM:619985
HP:0034673	Abnormal ankle morphology	127833	SYT2	OMIM:619461
HP:0034673	Abnormal ankle morphology	4921	DDR2	OMIM:618175
HP:0034673	Abnormal ankle morphology	4703	NEB	ORPHA:399103
HP:0034673	Abnormal ankle morphology	7407	VARS1	OMIM:617802
HP:0034673	Abnormal ankle morphology	9896	FIG4	OMIM:611228
HP:0034673	Abnormal ankle morphology	203859	ANO5	ORPHA:206549
HP:0034673	Abnormal ankle morphology	65055	REEP1	OMIM:620011
HP:0034674	Abnormal ankle physiology	1311	COMP	ORPHA:750
HP:0034674	Abnormal ankle physiology	29920	PYCR2	ORPHA:481152
HP:0034674	Abnormal ankle physiology	1291	COL6A1	OMIM:254090
HP:0034674	Abnormal ankle physiology	1292	COL6A2	OMIM:254090
HP:0034674	Abnormal ankle physiology	1293	COL6A3	OMIM:254090
HP:0034674	Abnormal ankle physiology	9927	MFN2	ORPHA:99947
HP:0034674	Abnormal ankle physiology	2737	GLI3	ORPHA:93322
HP:0034674	Abnormal ankle physiology	7337	UBE3A	ORPHA:98794
HP:0034674	Abnormal ankle physiology	4948	OCA2	ORPHA:98794
HP:0034674	Abnormal ankle physiology	4000	LMNA	ORPHA:740
HP:0034674	Abnormal ankle physiology	10269	ZMPSTE24	ORPHA:740
HP:0034674	Abnormal ankle physiology	2316	FLNA	ORPHA:1826
HP:0034674	Abnormal ankle physiology	6885	MAP3K7	ORPHA:1826
HP:0034674	Abnormal ankle physiology	4625	MYH7	ORPHA:437572
HP:0034674	Abnormal ankle physiology	123606	NIPA1	ORPHA:100988
HP:0034674	Abnormal ankle physiology	11160	ERLIN2	ORPHA:280384
HP:0034674	Abnormal ankle physiology	11160	ERLIN2	ORPHA:209951
HP:0034674	Abnormal ankle physiology	11160	ERLIN2	OMIM:611225
HP:0034674	Abnormal ankle physiology	85465	SELENOI	ORPHA:506353
HP:0034674	Abnormal ankle physiology	85465	SELENOI	OMIM:618768
HP:0034674	Abnormal ankle physiology	51062	ATL1	ORPHA:100984
HP:0034674	Abnormal ankle physiology	23111	SPART	OMIM:275900
HP:0034674	Abnormal ankle physiology	23111	SPART	ORPHA:101000
HP:0034674	Abnormal ankle physiology	4728	NDUFS8	OMIM:618222
HP:0034674	Abnormal ankle physiology	55697	VAC14	OMIM:617054
HP:0034674	Abnormal ankle physiology	56006	SMG9	OMIM:619995
HP:0034674	Abnormal ankle physiology	10159	ATP6AP2	ORPHA:363654
HP:0034674	Abnormal ankle physiology	6683	SPAST	ORPHA:100985
HP:0034674	Abnormal ankle physiology	51604	PIGT	OMIM:615398
HP:0034674	Abnormal ankle physiology	9420	CYP7B1	ORPHA:100986
HP:0034674	Abnormal ankle physiology	23516	SLC39A14	OMIM:617013
HP:0034674	Abnormal ankle physiology	23516	SLC39A14	ORPHA:521406
HP:0034674	Abnormal ankle physiology	23345	SYNE1	ORPHA:88644
HP:0034674	Abnormal ankle physiology	22931	RAB18	OMIM:614222
HP:0034674	Abnormal ankle physiology	1593	CYP27A1	OMIM:213700
HP:0034674	Abnormal ankle physiology	3839	KPNA3	OMIM:620106
HP:0034674	Abnormal ankle physiology	959	CD40LG	OMIM:308230
HP:0034674	Abnormal ankle physiology	64837	KLC2	OMIM:609541
HP:0034674	Abnormal ankle physiology	2258	FGF13	OMIM:301058
HP:0034674	Abnormal ankle physiology	440193	CCDC88C	OMIM:616053
HP:0034674	Abnormal ankle physiology	6647	SOD1	OMIM:618598
HP:0034674	Abnormal ankle physiology	6253	RTN2	OMIM:604805
HP:0034674	Abnormal ankle physiology	84340	GFM2	OMIM:618397
HP:0034674	Abnormal ankle physiology	84340	GFM2	ORPHA:565624
HP:0034674	Abnormal ankle physiology	79152	FA2H	ORPHA:171629
HP:0034674	Abnormal ankle physiology	79152	FA2H	OMIM:612319
HP:0034674	Abnormal ankle physiology	10273	STUB1	OMIM:615768
HP:0034674	Abnormal ankle physiology	10273	STUB1	ORPHA:412057
HP:0034674	Abnormal ankle physiology	9409	PEX16	OMIM:614877
HP:0034674	Abnormal ankle physiology	6509	SLC1A4	OMIM:616657
HP:0034674	Abnormal ankle physiology	547	KIF1A	OMIM:610357
HP:0034674	Abnormal ankle physiology	9338	TCEAL1	OMIM:301094
HP:0034674	Abnormal ankle physiology	80208	SPG11	OMIM:604360
HP:0034674	Abnormal ankle physiology	5456	POU3F4	ORPHA:1435
HP:0034674	Abnormal ankle physiology	55129	ANO10	ORPHA:284289
HP:0034674	Abnormal ankle physiology	16	AARS1	OMIM:619691
HP:0034674	Abnormal ankle physiology	219285	SAMD9L	OMIM:159550
HP:0034674	Abnormal ankle physiology	9289	ADGRG1	OMIM:606854
HP:0034674	Abnormal ankle physiology	7345	UCHL1	OMIM:615491
HP:0034674	Abnormal ankle physiology	215	ABCD1	ORPHA:139396
HP:0034674	Abnormal ankle physiology	3064	HTT	OMIM:617435
HP:0034674	Abnormal ankle physiology	118813	ZFYVE27	OMIM:610244
HP:0034674	Abnormal ankle physiology	7415	VCP	OMIM:613954
HP:0034674	Abnormal ankle physiology	57704	GBA2	OMIM:614409
HP:0034674	Abnormal ankle physiology	2581	GALC	ORPHA:206436
HP:0034674	Abnormal ankle physiology	5660	PSAP	ORPHA:206436
HP:0034674	Abnormal ankle physiology	1678	TIMM8A	ORPHA:52368
HP:0034674	Abnormal ankle physiology	6567	SLC16A2	ORPHA:59
HP:0034674	Abnormal ankle physiology	6712	SPTBN2	OMIM:600224
HP:0034674	Abnormal ankle physiology	3798	KIF5A	ORPHA:100991
HP:0034674	Abnormal ankle physiology	3798	KIF5A	OMIM:604187
HP:0034674	Abnormal ankle physiology	823	CAPN1	ORPHA:488594
HP:0034674	Abnormal ankle physiology	5297	PI4KA	OMIM:619621
HP:0034674	Abnormal ankle physiology	833	CARS1	OMIM:618891
HP:0034674	Abnormal ankle physiology	65055	REEP1	OMIM:610250
HP:0034674	Abnormal ankle physiology	10749	KIF1C	OMIM:611302
HP:0034674	Abnormal ankle physiology	8398	PLA2G6	OMIM:612953
HP:0034674	Abnormal ankle physiology	113278	SLC52A3	OMIM:211530
HP:0034675	Toe joint contracture	1146	CHRNG	OMIM:265000
HP:0034675	Toe joint contracture	2316	FLNA	OMIM:300244
HP:0034675	Toe joint contracture	1832	DSP	ORPHA:158687
HP:0034675	Toe joint contracture	3728	JUP	ORPHA:158687
HP:0034675	Toe joint contracture	91179	SCARF2	OMIM:600920
HP:0034675	Toe joint contracture	63895	PIEZO2	OMIM:114300
HP:0034675	Toe joint contracture	29895	MYL11	OMIM:619110
HP:0034675	Toe joint contracture	2737	GLI3	OMIM:175700
HP:0034675	Toe joint contracture	2261	FGFR3	OMIM:610474
HP:0034675	Toe joint contracture	10216	PRG4	ORPHA:2848
HP:0034675	Toe joint contracture	84295	PHF6	ORPHA:127
HP:0034675	Toe joint contracture	2273	FHL1	OMIM:300280
HP:0034675	Toe joint contracture	4313	MMP2	OMIM:259600
HP:0034675	Toe joint contracture	139285	AMER1	OMIM:300373
HP:0034675	Toe joint contracture	11160	ERLIN2	ORPHA:209951
HP:0034675	Toe joint contracture	55315	SLC29A3	OMIM:602782
HP:0034675	Toe joint contracture	2200	FBN1	OMIM:608328
HP:0034675	Toe joint contracture	23556	PIGN	ORPHA:280633
HP:0034675	Toe joint contracture	22978	NT5C2	ORPHA:320396
HP:0034675	Toe joint contracture	64127	NOD2	OMIM:186580
HP:0034675	Toe joint contracture	4621	MYH3	OMIM:193700
HP:0034675	Toe joint contracture	23102	TBC1D2B	OMIM:619323
HP:0034675	Toe joint contracture	3977	LIFR	OMIM:601559
HP:0034675	Toe joint contracture	7043	TGFB3	OMIM:615582
HP:0034675	Toe joint contracture	1984	EIF5A	OMIM:619376
HP:0034675	Toe joint contracture	5696	PSMB8	OMIM:256040
HP:0034675	Toe joint contracture	3339	HSPG2	OMIM:255800
HP:0034675	Toe joint contracture	3339	HSPG2	ORPHA:800
HP:0034675	Toe joint contracture	2067	ERCC1	OMIM:610758
HP:0034675	Toe joint contracture	54880	BCOR	ORPHA:2712
HP:0034675	Toe joint contracture	10526	IPO8	OMIM:619472
HP:0034675	Toe joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0034677	Ankle contracture	11160	ERLIN2	ORPHA:280384
HP:0034677	Ankle contracture	11160	ERLIN2	ORPHA:209951
HP:0034677	Ankle contracture	25914	RTTN	ORPHA:468631
HP:0034677	Ankle contracture	1859	DYRK1A	ORPHA:464311
HP:0034677	Ankle contracture	64324	NSD1	ORPHA:821
HP:0034677	Ankle contracture	29072	SETD2	ORPHA:821
HP:0034677	Ankle contracture	10297	APC2	ORPHA:821
HP:0034677	Ankle contracture	1605	DAG1	OMIM:613818
HP:0034677	Ankle contracture	1605	DAG1	ORPHA:280333
HP:0034677	Ankle contracture	6442	SGCA	OMIM:608099
HP:0034677	Ankle contracture	6840	SVIL	OMIM:619040
HP:0034677	Ankle contracture	1303	COL12A1	ORPHA:536516
HP:0034677	Ankle contracture	1303	COL12A1	ORPHA:610
HP:0034677	Ankle contracture	825	CAPN3	ORPHA:267
HP:0034677	Ankle contracture	6134	RPL10	ORPHA:435938
HP:0034677	Ankle contracture	22978	NT5C2	ORPHA:320396
HP:0034677	Ankle contracture	55958	KLHL9	ORPHA:399081
HP:0034677	Ankle contracture	6261	RYR1	OMIM:117000
HP:0034677	Ankle contracture	83636	C19orf12	OMIM:615043
HP:0034677	Ankle contracture	84876	ORAI1	OMIM:615883
HP:0034677	Ankle contracture	163175	LGI4	OMIM:617468
HP:0034677	Ankle contracture	6509	SLC1A4	OMIM:616657
HP:0034677	Ankle contracture	60681	FKBP10	OMIM:259450
HP:0034677	Ankle contracture	4773	NFATC2	OMIM:620232
HP:0034677	Ankle contracture	1291	COL6A1	ORPHA:610
HP:0034677	Ankle contracture	1291	COL6A1	OMIM:158810
HP:0034677	Ankle contracture	1292	COL6A2	ORPHA:610
HP:0034677	Ankle contracture	1292	COL6A2	OMIM:158810
HP:0034677	Ankle contracture	1293	COL6A3	ORPHA:610
HP:0034677	Ankle contracture	1293	COL6A3	OMIM:158810
HP:0034677	Ankle contracture	87178	PNPT1	ORPHA:319514
HP:0034677	Ankle contracture	26092	TOR1AIP1	OMIM:617072
HP:0034677	Ankle contracture	2316	FLNA	OMIM:305620
HP:0034677	Ankle contracture	8813	DPM1	OMIM:608799
HP:0034677	Ankle contracture	210	ALAD	ORPHA:100924
HP:0034677	Ankle contracture	513	ATP5F1D	OMIM:618120
HP:0034677	Ankle contracture	7317	UBA1	ORPHA:1145
HP:0034677	Ankle contracture	55681	SCYL2	ORPHA:1143
HP:0034677	Ankle contracture	84570	COL25A1	ORPHA:1143
HP:0034677	Ankle contracture	57222	ERGIC1	ORPHA:1143
HP:0034677	Ankle contracture	80208	SPG11	OMIM:616668
HP:0034677	Ankle contracture	57731	SPTBN4	OMIM:617519
HP:0034677	Ankle contracture	4313	MMP2	OMIM:259600
HP:0034677	Ankle contracture	157570	ESCO2	OMIM:268300
HP:0034677	Ankle contracture	29968	PSAT1	ORPHA:284417
HP:0034677	Ankle contracture	57190	SELENON	ORPHA:2020
HP:0034677	Ankle contracture	58	ACTA1	ORPHA:2020
HP:0034677	Ankle contracture	4633	MYL2	ORPHA:2020
HP:0034677	Ankle contracture	3679	ITGA7	ORPHA:2020
HP:0034677	Ankle contracture	7169	TPM2	ORPHA:2020
HP:0034677	Ankle contracture	9200	HACD1	ORPHA:2020
HP:0034677	Ankle contracture	7170	TPM3	ORPHA:2020
HP:0034677	Ankle contracture	51776	MAP3K20	ORPHA:2020
HP:0034677	Ankle contracture	51776	MAP3K20	OMIM:617760
HP:0034677	Ankle contracture	5297	PI4KA	OMIM:619621
HP:0034677	Ankle contracture	497661	C18orf32	OMIM:619985
HP:0034677	Ankle contracture	127833	SYT2	OMIM:619461
HP:0034677	Ankle contracture	4921	DDR2	OMIM:618175
HP:0034677	Ankle contracture	4703	NEB	ORPHA:399103
HP:0034677	Ankle contracture	7407	VARS1	OMIM:617802
HP:0034677	Ankle contracture	9896	FIG4	OMIM:611228
HP:0034677	Ankle contracture	203859	ANO5	ORPHA:206549
HP:0034677	Ankle contracture	65055	REEP1	OMIM:620011
HP:0034681	Finger joint contracture	64093	SMOC1	OMIM:206920
HP:0034681	Finger joint contracture	64093	SMOC1	ORPHA:1106
HP:0034681	Finger joint contracture	91179	SCARF2	OMIM:600920
HP:0034681	Finger joint contracture	7317	UBA1	ORPHA:1145
HP:0034681	Finger joint contracture	3868	KRT16	ORPHA:2199
HP:0034681	Finger joint contracture	3857	KRT9	ORPHA:2199
HP:0034681	Finger joint contracture	3848	KRT1	ORPHA:2199
HP:0034681	Finger joint contracture	4313	MMP2	OMIM:259600
HP:0034681	Finger joint contracture	55628	ZNF407	OMIM:619557
HP:0034681	Finger joint contracture	23219	FBXO28	OMIM:619777
HP:0034681	Finger joint contracture	84265	POLR3GL	OMIM:619234
HP:0034681	Finger joint contracture	29072	SETD2	ORPHA:821
HP:0034681	Finger joint contracture	10297	APC2	ORPHA:821
HP:0034681	Finger joint contracture	51305	KCNK9	ORPHA:166108
HP:0034681	Finger joint contracture	825	CAPN3	ORPHA:267
HP:0034681	Finger joint contracture	113179	ADAT3	ORPHA:363528
HP:0034681	Finger joint contracture	7043	TGFB3	OMIM:615582
HP:0034681	Finger joint contracture	5307	PITX1	OMIM:186550
HP:0034681	Finger joint contracture	10664	CTCF	ORPHA:363611
HP:0034681	Finger joint contracture	26053	AUTS2	ORPHA:352490
HP:0034681	Finger joint contracture	219854	TMEM218	OMIM:619562
HP:0034681	Finger joint contracture	23291	FBXW11	OMIM:618914
HP:0034681	Finger joint contracture	79912	PYROXD1	OMIM:617258
HP:0034681	Finger joint contracture	9757	KMT2B	OMIM:619934
HP:0034681	Finger joint contracture	3720	JARID2	OMIM:620098
HP:0034681	Finger joint contracture	10765	KDM5B	OMIM:618109
HP:0034681	Finger joint contracture	9487	PIGL	OMIM:280000
HP:0034681	Finger joint contracture	10093	ARPC4	OMIM:620141
HP:0034681	Finger joint contracture	25942	SIN3A	OMIM:613406
HP:0034681	Finger joint contracture	11011	TLK2	OMIM:618050
HP:0034681	Finger joint contracture	80816	ASXL3	OMIM:615485
HP:0034681	Finger joint contracture	81857	MED25	ORPHA:464738
HP:0034681	Finger joint contracture	8243	SMC1A	OMIM:301044
HP:0034681	Finger joint contracture	6909	TBX2	OMIM:618223
HP:0034681	Finger joint contracture	1277	COL1A1	OMIM:130060
HP:0034681	Finger joint contracture	6134	RPL10	OMIM:300998
HP:0034681	Finger joint contracture	23327	NEDD4L	OMIM:617201
HP:0034681	Finger joint contracture	8985	PLOD3	OMIM:612394
HP:0034681	Finger joint contracture	1889	ECE1	OMIM:613870
HP:0034681	Finger joint contracture	4010	LMX1B	ORPHA:2614
HP:0034681	Finger joint contracture	6662	SOX9	OMIM:114290
HP:0034681	Finger joint contracture	4297	KMT2A	OMIM:605130
HP:0034681	Finger joint contracture	1280	COL2A1	ORPHA:485
HP:0034681	Finger joint contracture	6840	SVIL	OMIM:619040
HP:0034681	Finger joint contracture	342035	GLDN	OMIM:617194
HP:0034681	Finger joint contracture	3861	KRT14	ORPHA:69087
HP:0034681	Finger joint contracture	57190	SELENON	ORPHA:2020
HP:0034681	Finger joint contracture	58	ACTA1	ORPHA:2020
HP:0034681	Finger joint contracture	4633	MYL2	ORPHA:2020
HP:0034681	Finger joint contracture	3679	ITGA7	ORPHA:2020
HP:0034681	Finger joint contracture	9200	HACD1	ORPHA:2020
HP:0034681	Finger joint contracture	7170	TPM3	ORPHA:2020
HP:0034681	Finger joint contracture	51776	MAP3K20	ORPHA:2020
HP:0034681	Finger joint contracture	28982	FLVCR1	ORPHA:88628
HP:0034681	Finger joint contracture	28982	FLVCR1	OMIM:609033
HP:0034681	Finger joint contracture	5159	PDGFRB	OMIM:601812
HP:0034681	Finger joint contracture	388015	RTL1	ORPHA:254528
HP:0034681	Finger joint contracture	8788	DLK1	ORPHA:254528
HP:0034681	Finger joint contracture	55384	MEG3	ORPHA:254528
HP:0034681	Finger joint contracture	4921	DDR2	OMIM:618175
HP:0034681	Finger joint contracture	23345	SYNE1	OMIM:618484
HP:0034681	Finger joint contracture	23345	SYNE1	ORPHA:319332
HP:0034681	Finger joint contracture	22880	MORC2	ORPHA:466768
HP:0034681	Finger joint contracture	4747	NEFL	ORPHA:101085
HP:0034681	Finger joint contracture	1859	DYRK1A	ORPHA:464311
HP:0034681	Finger joint contracture	203859	ANO5	ORPHA:206549
HP:0034681	Finger joint contracture	2218	FKTN	ORPHA:272
HP:0034681	Finger joint contracture	4621	MYH3	ORPHA:2053
HP:0034681	Finger joint contracture	4621	MYH3	ORPHA:1146
HP:0034681	Finger joint contracture	4621	MYH3	ORPHA:2990
HP:0034681	Finger joint contracture	259232	NALCN	ORPHA:2053
HP:0034681	Finger joint contracture	259232	NALCN	ORPHA:1146
HP:0034681	Finger joint contracture	8294	H4C9	OMIM:619951
HP:0034681	Finger joint contracture	3094	HINT1	ORPHA:324442
HP:0034681	Finger joint contracture	8838	CCN6	OMIM:208230
HP:0034681	Finger joint contracture	1947	EFNB1	ORPHA:1520
HP:0034681	Finger joint contracture	7355	SLC35A2	ORPHA:356961
HP:0034681	Finger joint contracture	118429	ANTXR2	ORPHA:2176
HP:0034681	Finger joint contracture	5077	PAX3	ORPHA:1529
HP:0034681	Finger joint contracture	5077	PAX3	ORPHA:896
HP:0034681	Finger joint contracture	5077	PAX3	OMIM:148820
HP:0034681	Finger joint contracture	2316	FLNA	OMIM:300244
HP:0034681	Finger joint contracture	2316	FLNA	ORPHA:90652
HP:0034681	Finger joint contracture	2316	FLNA	ORPHA:1826
HP:0034681	Finger joint contracture	2316	FLNA	OMIM:305620
HP:0034681	Finger joint contracture	9241	NOG	ORPHA:3250
HP:0034681	Finger joint contracture	8200	GDF5	ORPHA:3250
HP:0034681	Finger joint contracture	54968	TMEM70	ORPHA:1194
HP:0034681	Finger joint contracture	613	BCR	ORPHA:261330
HP:0034681	Finger joint contracture	1399	CRKL	ORPHA:261330
HP:0034681	Finger joint contracture	5594	MAPK1	ORPHA:261330
HP:0034681	Finger joint contracture	84466	MEGF10	OMIM:614399
HP:0034681	Finger joint contracture	72	ACTG2	ORPHA:2604
HP:0034681	Finger joint contracture	10216	PRG4	ORPHA:2848
HP:0034681	Finger joint contracture	3508	IGHMBP2	OMIM:604320
HP:0034681	Finger joint contracture	6926	TBX3	ORPHA:3138
HP:0034681	Finger joint contracture	51360	MBTPS2	ORPHA:2273
HP:0034681	Finger joint contracture	10381	TUBB3	OMIM:600638
HP:0034681	Finger joint contracture	9469	CHST3	OMIM:143095
HP:0034681	Finger joint contracture	3423	IDS	ORPHA:217085
HP:0034681	Finger joint contracture	3423	IDS	ORPHA:217093
HP:0034681	Finger joint contracture	64359	NXN	ORPHA:1507
HP:0034681	Finger joint contracture	4920	ROR2	ORPHA:1507
HP:0034681	Finger joint contracture	2697	GJA1	ORPHA:2710
HP:0034681	Finger joint contracture	2697	GJA1	ORPHA:93404
HP:0034681	Finger joint contracture	64127	NOD2	OMIM:186580
HP:0034681	Finger joint contracture	64127	NOD2	ORPHA:90340
HP:0034681	Finger joint contracture	6999	TDO2	OMIM:600627
HP:0034681	Finger joint contracture	1301	COL11A1	ORPHA:2021
HP:0034681	Finger joint contracture	1302	COL11A2	ORPHA:2021
HP:0034681	Finger joint contracture	10716	TBR1	ORPHA:1617
HP:0034681	Finger joint contracture	3425	IDUA	OMIM:607015
HP:0034681	Finger joint contracture	3425	IDUA	ORPHA:93473
HP:0034681	Finger joint contracture	4593	MUSK	OMIM:208150
HP:0034681	Finger joint contracture	4593	MUSK	ORPHA:994
HP:0034681	Finger joint contracture	63895	PIEZO2	OMIM:114300
HP:0034681	Finger joint contracture	63895	PIEZO2	ORPHA:376
HP:0034681	Finger joint contracture	63895	PIEZO2	ORPHA:2461
HP:0034681	Finger joint contracture	56006	SMG9	OMIM:616920
HP:0034681	Finger joint contracture	1857	DVL3	ORPHA:3107
HP:0034681	Finger joint contracture	7474	WNT5A	ORPHA:3107
HP:0034681	Finger joint contracture	1855	DVL1	ORPHA:3107
HP:0034681	Finger joint contracture	2535	FZD2	ORPHA:3107
HP:0034681	Finger joint contracture	9508	ADAMTS3	ORPHA:2136
HP:0034681	Finger joint contracture	147372	CCBE1	ORPHA:2136
HP:0034681	Finger joint contracture	79633	FAT4	ORPHA:2136
HP:0034681	Finger joint contracture	5189	PEX1	ORPHA:3220
HP:0034681	Finger joint contracture	5190	PEX6	ORPHA:3220
HP:0034681	Finger joint contracture	5590	PRKCZ	ORPHA:1606
HP:0034681	Finger joint contracture	2563	GABRD	ORPHA:1606
HP:0034681	Finger joint contracture	23013	SPEN	ORPHA:1606
HP:0034681	Finger joint contracture	8510	MMP23B	ORPHA:1606
HP:0034681	Finger joint contracture	7798	LUZP1	ORPHA:1606
HP:0034681	Finger joint contracture	6497	SKI	ORPHA:1606
HP:0034681	Finger joint contracture	6497	SKI	ORPHA:2462
HP:0034681	Finger joint contracture	10630	PDPN	ORPHA:1606
HP:0034681	Finger joint contracture	3339	HSPG2	ORPHA:1606
HP:0034681	Finger joint contracture	10277	UBE4B	ORPHA:1606
HP:0034681	Finger joint contracture	8514	KCNAB2	ORPHA:1606
HP:0034681	Finger joint contracture	473	RERE	ORPHA:1606
HP:0034681	Finger joint contracture	63976	PRDM16	ORPHA:1606
HP:0034681	Finger joint contracture	54897	CASZ1	ORPHA:1606
HP:0034681	Finger joint contracture	9719	ADAMTSL2	OMIM:231050
HP:0034681	Finger joint contracture	4952	OCRL	OMIM:309000
HP:0034681	Finger joint contracture	8517	IKBKG	ORPHA:464
HP:0034681	Finger joint contracture	10436	EMG1	ORPHA:1270
HP:0034681	Finger joint contracture	57492	ARID1B	ORPHA:251056
HP:0034681	Finger joint contracture	11128	POLR3A	ORPHA:3455
HP:0034681	Finger joint contracture	2239	GPC4	ORPHA:373
HP:0034681	Finger joint contracture	2719	GPC3	ORPHA:373
HP:0034681	Finger joint contracture	55612	FERMT1	ORPHA:2908
HP:0034681	Finger joint contracture	3977	LIFR	ORPHA:3206
HP:0034681	Finger joint contracture	23483	TGDS	ORPHA:1388
HP:0034681	Finger joint contracture	2260	FGFR1	OMIM:166250
HP:0034681	Finger joint contracture	7140	TNNT3	ORPHA:1146
HP:0034681	Finger joint contracture	7169	TPM2	ORPHA:1146
HP:0034681	Finger joint contracture	7136	TNNI2	ORPHA:1146
HP:0034681	Finger joint contracture	7136	TNNI2	OMIM:601680
HP:0034681	Finger joint contracture	4604	MYBPC1	ORPHA:1146
HP:0034681	Finger joint contracture	6885	MAP3K7	ORPHA:1826
HP:0034681	Finger joint contracture	117581	TWIST2	ORPHA:920
HP:0034681	Finger joint contracture	64324	NSD1	ORPHA:3447
HP:0034681	Finger joint contracture	8726	EED	ORPHA:3447
HP:0034681	Finger joint contracture	23512	SUZ12	ORPHA:3447
HP:0034681	Finger joint contracture	2146	EZH2	ORPHA:3447
HP:0034681	Finger joint contracture	1723	DHODH	ORPHA:246
HP:0034681	Finger joint contracture	257	ALX3	ORPHA:391474
HP:0034681	Finger joint contracture	3239	HOXD13	OMIM:186300
HP:0034681	Finger joint contracture	3239	HOXD13	ORPHA:93406
HP:0034681	Finger joint contracture	54903	MKS1	OMIM:249000
HP:0034681	Finger joint contracture	91252	SLC39A13	OMIM:612350
HP:0034681	Finger joint contracture	22930	RAB3GAP1	OMIM:619420
HP:0034681	Finger joint contracture	7046	TGFBR1	ORPHA:60030
HP:0034681	Finger joint contracture	10526	IPO8	ORPHA:60030
HP:0034681	Finger joint contracture	7048	TGFBR2	ORPHA:60030
HP:0034681	Finger joint contracture	3897	L1CAM	ORPHA:2466
HP:0034681	Finger joint contracture	2245	FGD1	ORPHA:915
HP:0034681	Finger joint contracture	2200	FBN1	ORPHA:2462
HP:0034681	Finger joint contracture	2201	FBN2	ORPHA:115
HP:0034681	Finger joint contracture	7227	TRPS1	ORPHA:77258
HP:0034681	Finger joint contracture	4088	SMAD3	ORPHA:284984
HP:0034681	Finger joint contracture	27238	GPKOW	ORPHA:2570
HP:0034681	Finger joint contracture	10466	COG5	ORPHA:263487
HP:0034681	Finger joint contracture	55315	SLC29A3	OMIM:602782
HP:0034681	Finger joint contracture	23102	TBC1D2B	OMIM:619323
HP:0034681	Finger joint contracture	2068	ERCC2	OMIM:610756
HP:0034681	Finger joint contracture	2068	ERCC2	ORPHA:1466
HP:0034681	Finger joint contracture	51114	ZDHHC9	ORPHA:776
HP:0034681	Finger joint contracture	65109	UPF3B	ORPHA:776
HP:0034681	Finger joint contracture	9968	MED12	ORPHA:776
HP:0034681	Finger joint contracture	2067	ERCC1	OMIM:610758
HP:0034681	Finger joint contracture	2067	ERCC1	ORPHA:1466
HP:0034681	Finger joint contracture	114548	NLRP3	ORPHA:575
HP:0034681	Finger joint contracture	2074	ERCC6	ORPHA:1466
HP:0034681	Finger joint contracture	2073	ERCC5	ORPHA:1466
HP:0034681	Finger joint contracture	134701	RIPPLY2	ORPHA:2311
HP:0034681	Finger joint contracture	10683	DLL3	ORPHA:2311
HP:0034681	Finger joint contracture	3955	LFNG	ORPHA:2311
HP:0034681	Finger joint contracture	84667	HES7	ORPHA:2311
HP:0034681	Finger joint contracture	145873	MESP2	ORPHA:2311
HP:0034681	Finger joint contracture	81620	CDT1	ORPHA:2554
HP:0034681	Finger joint contracture	5000	ORC4	ORPHA:2554
HP:0034681	Finger joint contracture	23594	ORC6	ORPHA:2554
HP:0034681	Finger joint contracture	8318	CDC45	ORPHA:2554
HP:0034681	Finger joint contracture	990	CDC6	ORPHA:2554
HP:0034681	Finger joint contracture	4998	ORC1	ORPHA:2554
HP:0034681	Finger joint contracture	51053	GMNN	ORPHA:2554
HP:0034681	Finger joint contracture	8260	NAA10	ORPHA:568
HP:0034681	Finger joint contracture	54880	BCOR	ORPHA:568
HP:0034681	Finger joint contracture	64327	LMBR1	ORPHA:93405
HP:0034681	Finger joint contracture	6469	SHH	ORPHA:93405
HP:0034681	Finger joint contracture	4927	NUP88	ORPHA:994
HP:0034681	Finger joint contracture	7846	TUBA1A	ORPHA:994
HP:0034681	Finger joint contracture	4654	MYOD1	ORPHA:994
HP:0034681	Finger joint contracture	5913	RAPSN	ORPHA:994
HP:0034681	Finger joint contracture	6572	SLC18A3	ORPHA:994
HP:0034681	Finger joint contracture	285489	DOK7	ORPHA:994
HP:0034681	Finger joint contracture	3914	LAMB3	OMIM:226650
HP:0034681	Finger joint contracture	9150	CTDP1	ORPHA:48431
HP:0034681	Finger joint contracture	8092	ALX1	ORPHA:306542
HP:0034681	Finger joint contracture	29895	MYL11	OMIM:619110
HP:0034681	Finger joint contracture	64840	PORCN	ORPHA:2092
HP:0034681	Finger joint contracture	23443	SLC35A3	OMIM:615553
HP:0034681	Finger joint contracture	285590	SH3PXD2B	ORPHA:137834
HP:0034681	Finger joint contracture	1836	SLC26A2	ORPHA:628
HP:0034681	Finger joint contracture	25914	RTTN	ORPHA:468631
HP:0034681	Finger joint contracture	9935	MAFB	ORPHA:2774
HP:0034681	Finger joint contracture	28952	CCDC22	OMIM:300963
HP:0034681	Finger joint contracture	8450	CUL4B	ORPHA:85293
HP:0034681	Finger joint contracture	1303	COL12A1	ORPHA:610
HP:0034681	Finger joint contracture	1291	COL6A1	ORPHA:610
HP:0034681	Finger joint contracture	1291	COL6A1	OMIM:158810
HP:0034681	Finger joint contracture	1292	COL6A2	ORPHA:610
HP:0034681	Finger joint contracture	1292	COL6A2	OMIM:158810
HP:0034681	Finger joint contracture	1293	COL6A3	ORPHA:610
HP:0034681	Finger joint contracture	1293	COL6A3	OMIM:158810
HP:0034681	Finger joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0034681	Finger joint contracture	8242	KDM5C	ORPHA:85279
HP:0034681	Finger joint contracture	59341	TRPV4	ORPHA:2635
HP:0034681	Finger joint contracture	2261	FGFR3	ORPHA:85164
HP:0034681	Finger joint contracture	4000	LMNA	ORPHA:1662
HP:0034681	Finger joint contracture	10269	ZMPSTE24	ORPHA:1662
HP:0034681	Finger joint contracture	1146	CHRNG	ORPHA:2990
HP:0034681	Finger joint contracture	23522	KAT6B	ORPHA:3047
HP:0034681	Finger joint contracture	26123	TCTN3	ORPHA:2753
HP:0034681	Finger joint contracture	64131	XYLT1	ORPHA:1425
HP:0034681	Finger joint contracture	124583	CANT1	ORPHA:1425
HP:0034681	Finger joint contracture	55790	CSGALNACT1	ORPHA:1425
HP:0034681	Finger joint contracture	23529	CLCF1	ORPHA:1545
HP:0034681	Finger joint contracture	9244	CRLF1	ORPHA:1545
HP:0034681	Finger joint contracture	51002	TPRKB	ORPHA:2065
HP:0034681	Finger joint contracture	84942	WDR73	ORPHA:2065
HP:0034681	Finger joint contracture	55644	OSGEP	ORPHA:2065
HP:0034681	Finger joint contracture	57122	NUP107	ORPHA:2065
HP:0034681	Finger joint contracture	10785	WDR4	ORPHA:2065
HP:0034681	Finger joint contracture	55746	NUP133	ORPHA:2065
HP:0034681	Finger joint contracture	112858	TP53RK	ORPHA:2065
HP:0034681	Finger joint contracture	8270	LAGE3	ORPHA:2065
HP:0034681	Finger joint contracture	5696	PSMB8	OMIM:256040
HP:0034681	Finger joint contracture	56916	SMARCAD1	ORPHA:1658
HP:0034684	Abnormal enzyme concentration or activity	4535	MT-ND1	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4536	MT-ND2	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4537	MT-ND3	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4538	MT-ND4	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4567	MT-TL1	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4578	MT-TW	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4577	MT-TV	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4508	MT-ATP6	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4540	MT-ND5	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4541	MT-ND6	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4566	MT-TK	ORPHA:255210
HP:0034684	Abnormal enzyme concentration or activity	4967	OGDH	ORPHA:31
HP:0034684	Abnormal enzyme concentration or activity	875	CBS	ORPHA:394
HP:0034684	Abnormal enzyme concentration or activity	26235	FBXL4	OMIM:615471
HP:0034684	Abnormal enzyme concentration or activity	229	ALDOB	OMIM:229600
HP:0034684	Abnormal enzyme concentration or activity	55532	SLC30A10	ORPHA:309854
HP:0034684	Abnormal enzyme concentration or activity	55532	SLC30A10	OMIM:613280
HP:0034684	Abnormal enzyme concentration or activity	1161	ERCC8	ORPHA:90324
HP:0034684	Abnormal enzyme concentration or activity	1161	ERCC8	ORPHA:90321
HP:0034684	Abnormal enzyme concentration or activity	2074	ERCC6	ORPHA:90324
HP:0034684	Abnormal enzyme concentration or activity	2074	ERCC6	ORPHA:90321
HP:0034684	Abnormal enzyme concentration or activity	60684	TRAPPC11	OMIM:615356
HP:0034684	Abnormal enzyme concentration or activity	60684	TRAPPC11	ORPHA:369840
HP:0034684	Abnormal enzyme concentration or activity	7355	SLC35A2	ORPHA:356961
HP:0034684	Abnormal enzyme concentration or activity	57539	WDR35	OMIM:613610
HP:0034684	Abnormal enzyme concentration or activity	80270	HSD3B7	ORPHA:79301
HP:0034684	Abnormal enzyme concentration or activity	80270	HSD3B7	OMIM:607765
HP:0034684	Abnormal enzyme concentration or activity	2072	ERCC4	ORPHA:90321
HP:0034684	Abnormal enzyme concentration or activity	2072	ERCC4	OMIM:610965
HP:0034684	Abnormal enzyme concentration or activity	6718	AKR1D1	ORPHA:79303
HP:0034684	Abnormal enzyme concentration or activity	6718	AKR1D1	OMIM:235555
HP:0034684	Abnormal enzyme concentration or activity	79848	CSPP1	ORPHA:397715
HP:0034684	Abnormal enzyme concentration or activity	9786	KIAA0586	ORPHA:397715
HP:0034684	Abnormal enzyme concentration or activity	6729	SRP54	OMIM:618752
HP:0034684	Abnormal enzyme concentration or activity	6729	SRP54	ORPHA:811
HP:0034684	Abnormal enzyme concentration or activity	6729	SRP54	OMIM:260400
HP:0034684	Abnormal enzyme concentration or activity	162	AP1B1	OMIM:242150
HP:0034684	Abnormal enzyme concentration or activity	79947	DHDDS	OMIM:613861
HP:0034684	Abnormal enzyme concentration or activity	9200	HACD1	OMIM:619967
HP:0034684	Abnormal enzyme concentration or activity	55768	NGLY1	ORPHA:404454
HP:0034684	Abnormal enzyme concentration or activity	55768	NGLY1	OMIM:615273
HP:0034684	Abnormal enzyme concentration or activity	134218	DNAJC21	ORPHA:811
HP:0034684	Abnormal enzyme concentration or activity	134218	DNAJC21	OMIM:260400
HP:0034684	Abnormal enzyme concentration or activity	79631	EFL1	ORPHA:811
HP:0034684	Abnormal enzyme concentration or activity	51119	SBDS	ORPHA:811
HP:0034684	Abnormal enzyme concentration or activity	51119	SBDS	OMIM:260400
HP:0034684	Abnormal enzyme concentration or activity	54658	UGT1A1	OMIM:143500
HP:0034684	Abnormal enzyme concentration or activity	54658	UGT1A1	OMIM:606785
HP:0034684	Abnormal enzyme concentration or activity	54658	UGT1A1	OMIM:218800
HP:0034684	Abnormal enzyme concentration or activity	5428	POLG	ORPHA:298
HP:0034684	Abnormal enzyme concentration or activity	5428	POLG	OMIM:203700
HP:0034684	Abnormal enzyme concentration or activity	5428	POLG	ORPHA:254892
HP:0034684	Abnormal enzyme concentration or activity	1890	TYMP	ORPHA:298
HP:0034684	Abnormal enzyme concentration or activity	3980	LIG3	ORPHA:298
HP:0034684	Abnormal enzyme concentration or activity	50484	RRM2B	ORPHA:298
HP:0034684	Abnormal enzyme concentration or activity	50484	RRM2B	ORPHA:254892
HP:0034684	Abnormal enzyme concentration or activity	25839	COG4	ORPHA:263501
HP:0034684	Abnormal enzyme concentration or activity	25839	COG4	OMIM:613489
HP:0034684	Abnormal enzyme concentration or activity	1738	DLD	ORPHA:2394
HP:0034684	Abnormal enzyme concentration or activity	1738	DLD	OMIM:246900
HP:0034684	Abnormal enzyme concentration or activity	60561	RINT1	OMIM:618641
HP:0034684	Abnormal enzyme concentration or activity	2859	GPR35	ORPHA:171
HP:0034684	Abnormal enzyme concentration or activity	10507	SEMA4D	ORPHA:171
HP:0034684	Abnormal enzyme concentration or activity	4485	MST1	ORPHA:171
HP:0034684	Abnormal enzyme concentration or activity	6925	TCF4	ORPHA:171
HP:0034684	Abnormal enzyme concentration or activity	5896	RAG1	ORPHA:331206
HP:0034684	Abnormal enzyme concentration or activity	5897	RAG2	ORPHA:331206
HP:0034684	Abnormal enzyme concentration or activity	2538	G6PC1	OMIM:232200
HP:0034684	Abnormal enzyme concentration or activity	22897	CEP164	OMIM:614845
HP:0034684	Abnormal enzyme concentration or activity	3117	HLA-DQA1	OMIM:212750
HP:0034684	Abnormal enzyme concentration or activity	3119	HLA-DQB1	OMIM:212750
HP:0034684	Abnormal enzyme concentration or activity	7840	ALMS1	OMIM:203800
HP:0034684	Abnormal enzyme concentration or activity	7840	ALMS1	ORPHA:64
HP:0034684	Abnormal enzyme concentration or activity	1716	DGUOK	OMIM:251880
HP:0034684	Abnormal enzyme concentration or activity	1716	DGUOK	OMIM:617068
HP:0034684	Abnormal enzyme concentration or activity	10555	AGPAT2	OMIM:608594
HP:0034684	Abnormal enzyme concentration or activity	1130	LYST	ORPHA:167
HP:0034684	Abnormal enzyme concentration or activity	9377	COX5A	OMIM:619064
HP:0034684	Abnormal enzyme concentration or activity	9131	AIFM1	OMIM:310490
HP:0034684	Abnormal enzyme concentration or activity	4598	MVK	OMIM:610377
HP:0034684	Abnormal enzyme concentration or activity	51021	MRPS16	OMIM:610498
HP:0034684	Abnormal enzyme concentration or activity	63894	VIPAS39	OMIM:613404
HP:0034684	Abnormal enzyme concentration or activity	28976	ACAD9	ORPHA:99901
HP:0034684	Abnormal enzyme concentration or activity	28976	ACAD9	OMIM:611126
HP:0034684	Abnormal enzyme concentration or activity	788	SLC25A20	ORPHA:159
HP:0034684	Abnormal enzyme concentration or activity	788	SLC25A20	OMIM:212138
HP:0034684	Abnormal enzyme concentration or activity	5373	PMM2	OMIM:212065
HP:0034684	Abnormal enzyme concentration or activity	5373	PMM2	ORPHA:79318
HP:0034684	Abnormal enzyme concentration or activity	1798	DPAGT1	ORPHA:86309
HP:0034684	Abnormal enzyme concentration or activity	1798	DPAGT1	OMIM:608093
HP:0034684	Abnormal enzyme concentration or activity	9056	SLC7A7	ORPHA:470
HP:0034684	Abnormal enzyme concentration or activity	51594	NBAS	OMIM:616483
HP:0034684	Abnormal enzyme concentration or activity	11277	TREX1	OMIM:192315
HP:0034684	Abnormal enzyme concentration or activity	11277	TREX1	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	11277	TREX1	OMIM:225750
HP:0034684	Abnormal enzyme concentration or activity	54914	FOCAD	OMIM:619991
HP:0034684	Abnormal enzyme concentration or activity	2677	GGCX	OMIM:277450
HP:0034684	Abnormal enzyme concentration or activity	10068	IL18BP	OMIM:618549
HP:0034684	Abnormal enzyme concentration or activity	5566	PRKACA	ORPHA:189439
HP:0034684	Abnormal enzyme concentration or activity	8622	PDE8B	ORPHA:189439
HP:0034684	Abnormal enzyme concentration or activity	5573	PRKAR1A	ORPHA:189439
HP:0034684	Abnormal enzyme concentration or activity	50940	PDE11A	ORPHA:189439
HP:0034684	Abnormal enzyme concentration or activity	2321	FLT1	ORPHA:275555
HP:0034684	Abnormal enzyme concentration or activity	219736	STOX1	ORPHA:275555
HP:0034684	Abnormal enzyme concentration or activity	10699	CORIN	ORPHA:275555
HP:0034684	Abnormal enzyme concentration or activity	5836	PYGL	OMIM:232700
HP:0034684	Abnormal enzyme concentration or activity	5836	PYGL	ORPHA:369
HP:0034684	Abnormal enzyme concentration or activity	10056	FARSB	OMIM:613658
HP:0034684	Abnormal enzyme concentration or activity	2203	FBP1	ORPHA:348
HP:0034684	Abnormal enzyme concentration or activity	472	ATM	ORPHA:100
HP:0034684	Abnormal enzyme concentration or activity	5551	PRF1	OMIM:603553
HP:0034684	Abnormal enzyme concentration or activity	5551	PRF1	ORPHA:540
HP:0034684	Abnormal enzyme concentration or activity	6804	STX1A	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	2947	GSTM3	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	7040	TGFB1	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	2729	GCLC	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	1084	CEACAM3	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	6556	SLC11A1	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	51164	DCTN4	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	3783	KCNN4	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	4282	MIF	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	1909	EDNRA	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	6550	SLC9A3	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	115019	SLC26A9	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	11254	SLC6A14	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	5265	SERPINA1	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	5265	SERPINA1	OMIM:613490
HP:0034684	Abnormal enzyme concentration or activity	1080	CFTR	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	22802	CLCA4	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	4680	CEACAM6	ORPHA:586
HP:0034684	Abnormal enzyme concentration or activity	8818	DPM2	OMIM:615042
HP:0034684	Abnormal enzyme concentration or activity	8818	DPM2	ORPHA:329178
HP:0034684	Abnormal enzyme concentration or activity	7385	UQCRC2	OMIM:615160
HP:0034684	Abnormal enzyme concentration or activity	57169	ZNFX1	OMIM:619644
HP:0034684	Abnormal enzyme concentration or activity	25970	SH2B1	ORPHA:329249
HP:0034684	Abnormal enzyme concentration or activity	8647	ABCB11	ORPHA:69665
HP:0034684	Abnormal enzyme concentration or activity	182	JAG1	OMIM:118450
HP:0034684	Abnormal enzyme concentration or activity	23175	LPIN1	ORPHA:99845
HP:0034684	Abnormal enzyme concentration or activity	4512	MT-CO1	ORPHA:99845
HP:0034684	Abnormal enzyme concentration or activity	4514	MT-CO3	ORPHA:99845
HP:0034684	Abnormal enzyme concentration or activity	6392	SDHD	ORPHA:100093
HP:0034684	Abnormal enzyme concentration or activity	51128	SAR1B	ORPHA:71
HP:0034684	Abnormal enzyme concentration or activity	57104	PNPLA2	OMIM:610717
HP:0034684	Abnormal enzyme concentration or activity	57104	PNPLA2	ORPHA:98908
HP:0034684	Abnormal enzyme concentration or activity	9968	MED12	OMIM:301068
HP:0034684	Abnormal enzyme concentration or activity	9493	KIF23	ORPHA:98870
HP:0034684	Abnormal enzyme concentration or activity	29127	RACGAP1	ORPHA:98870
HP:0034684	Abnormal enzyme concentration or activity	4846	NOS3	OMIM:189800
HP:0034684	Abnormal enzyme concentration or activity	8813	DPM1	OMIM:608799
HP:0034684	Abnormal enzyme concentration or activity	8813	DPM1	ORPHA:79322
HP:0034684	Abnormal enzyme concentration or activity	811	CALR	ORPHA:131
HP:0034684	Abnormal enzyme concentration or activity	3717	JAK2	ORPHA:131
HP:0034684	Abnormal enzyme concentration or activity	2153	F5	ORPHA:131
HP:0034684	Abnormal enzyme concentration or activity	5692	PSMB4	OMIM:617591
HP:0034684	Abnormal enzyme concentration or activity	5698	PSMB9	OMIM:617591
HP:0034684	Abnormal enzyme concentration or activity	125988	MICOS13	OMIM:618329
HP:0034684	Abnormal enzyme concentration or activity	50943	FOXP3	ORPHA:37042
HP:0034684	Abnormal enzyme concentration or activity	5194	PEX13	OMIM:614883
HP:0034684	Abnormal enzyme concentration or activity	3172	HNF4A	OMIM:616026
HP:0034684	Abnormal enzyme concentration or activity	3172	HNF4A	ORPHA:263455
HP:0034684	Abnormal enzyme concentration or activity	57817	HAMP	OMIM:613313
HP:0034684	Abnormal enzyme concentration or activity	57817	HAMP	ORPHA:79230
HP:0034684	Abnormal enzyme concentration or activity	5824	PEX19	OMIM:614886
HP:0034684	Abnormal enzyme concentration or activity	147007	TMEM199	OMIM:616829
HP:0034684	Abnormal enzyme concentration or activity	84317	CCDC115	OMIM:616828
HP:0034684	Abnormal enzyme concentration or activity	2184	FAH	OMIM:276700
HP:0034684	Abnormal enzyme concentration or activity	79087	ALG12	ORPHA:79324
HP:0034684	Abnormal enzyme concentration or activity	79053	ALG8	ORPHA:79325
HP:0034684	Abnormal enzyme concentration or activity	197322	ACSF3	ORPHA:289504
HP:0034684	Abnormal enzyme concentration or activity	1616	DAXX	ORPHA:100075
HP:0034684	Abnormal enzyme concentration or activity	546	ATRX	ORPHA:100075
HP:0034684	Abnormal enzyme concentration or activity	5825	ABCD3	OMIM:616278
HP:0034684	Abnormal enzyme concentration or activity	54344	DPM3	ORPHA:263494
HP:0034684	Abnormal enzyme concentration or activity	54344	DPM3	OMIM:612937
HP:0034684	Abnormal enzyme concentration or activity	51067	YARS2	OMIM:613561
HP:0034684	Abnormal enzyme concentration or activity	5256	PHKA2	ORPHA:264580
HP:0034684	Abnormal enzyme concentration or activity	5256	PHKA2	OMIM:306000
HP:0034684	Abnormal enzyme concentration or activity	5261	PHKG2	ORPHA:264580
HP:0034684	Abnormal enzyme concentration or activity	5261	PHKG2	OMIM:613027
HP:0034684	Abnormal enzyme concentration or activity	284119	CAVIN1	OMIM:613327
HP:0034684	Abnormal enzyme concentration or activity	3242	HPD	OMIM:276710
HP:0034684	Abnormal enzyme concentration or activity	2658	GDF2	OMIM:615506
HP:0034684	Abnormal enzyme concentration or activity	10535	RNASEH2A	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	10535	RNASEH2A	OMIM:610333
HP:0034684	Abnormal enzyme concentration or activity	84153	RNASEH2C	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	84153	RNASEH2C	OMIM:610329
HP:0034684	Abnormal enzyme concentration or activity	25939	SAMHD1	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	79621	RNASEH2B	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	103	ADAR	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	100147744	RNU7-1	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	100147744	RNU7-1	OMIM:619487
HP:0034684	Abnormal enzyme concentration or activity	134353	LSM11	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	64135	IFIH1	ORPHA:51
HP:0034684	Abnormal enzyme concentration or activity	6309	SC5D	OMIM:607330
HP:0034684	Abnormal enzyme concentration or activity	10159	ATP6AP2	OMIM:301045
HP:0034684	Abnormal enzyme concentration or activity	291	SLC25A4	ORPHA:254892
HP:0034684	Abnormal enzyme concentration or activity	3155	HMGCL	ORPHA:20
HP:0034684	Abnormal enzyme concentration or activity	10466	COG5	ORPHA:263487
HP:0034684	Abnormal enzyme concentration or activity	212	ALAS2	OMIM:300752
HP:0034684	Abnormal enzyme concentration or activity	212	ALAS2	ORPHA:75563
HP:0034684	Abnormal enzyme concentration or activity	22845	DOLK	ORPHA:91131
HP:0034684	Abnormal enzyme concentration or activity	81570	CLPB	ORPHA:445038
HP:0034684	Abnormal enzyme concentration or activity	55593	OTUD5	OMIM:301056
HP:0034684	Abnormal enzyme concentration or activity	8676	STX11	ORPHA:540
HP:0034684	Abnormal enzyme concentration or activity	201294	UNC13D	ORPHA:540
HP:0034684	Abnormal enzyme concentration or activity	6813	STXBP2	ORPHA:540
HP:0034684	Abnormal enzyme concentration or activity	91147	TMEM67	OMIM:216360
HP:0034684	Abnormal enzyme concentration or activity	91147	TMEM67	ORPHA:1454
HP:0034684	Abnormal enzyme concentration or activity	91147	TMEM67	ORPHA:84081
HP:0034684	Abnormal enzyme concentration or activity	55182	RNF220	OMIM:619688
HP:0034684	Abnormal enzyme concentration or activity	29998	BICRA	OMIM:619325
HP:0034684	Abnormal enzyme concentration or activity	51601	LIPT1	OMIM:616299
HP:0034684	Abnormal enzyme concentration or activity	79644	SRD5A3	OMIM:612379
HP:0034684	Abnormal enzyme concentration or activity	79644	SRD5A3	ORPHA:324737
HP:0034684	Abnormal enzyme concentration or activity	10166	SLC25A15	ORPHA:415
HP:0034684	Abnormal enzyme concentration or activity	427	ASAH1	ORPHA:333
HP:0034684	Abnormal enzyme concentration or activity	3106	HLA-B	ORPHA:36426
HP:0034684	Abnormal enzyme concentration or activity	10320	IKZF1	ORPHA:36426
HP:0034684	Abnormal enzyme concentration or activity	22796	COG2	OMIM:617395
HP:0034684	Abnormal enzyme concentration or activity	55240	STEAP3	ORPHA:300298
HP:0034684	Abnormal enzyme concentration or activity	3930	LBR	OMIM:613471
HP:0034684	Abnormal enzyme concentration or activity	51218	GLRX5	OMIM:616860
HP:0034684	Abnormal enzyme concentration or activity	6928	HNF1B	OMIM:137920
HP:0034684	Abnormal enzyme concentration or activity	6928	HNF1B	ORPHA:261265
HP:0034684	Abnormal enzyme concentration or activity	6928	HNF1B	ORPHA:93111
HP:0034684	Abnormal enzyme concentration or activity	7019	TFAM	OMIM:617156
HP:0034684	Abnormal enzyme concentration or activity	11274	USP18	OMIM:617397
HP:0034684	Abnormal enzyme concentration or activity	10616	RBCK1	OMIM:615895
HP:0034684	Abnormal enzyme concentration or activity	708	C1QBP	OMIM:617713
HP:0034684	Abnormal enzyme concentration or activity	5257	PHKB	ORPHA:79240
HP:0034684	Abnormal enzyme concentration or activity	3431	SP110	ORPHA:79124
HP:0034684	Abnormal enzyme concentration or activity	128989	TANGO2	ORPHA:480864
HP:0034684	Abnormal enzyme concentration or activity	128989	TANGO2	OMIM:616878
HP:0034684	Abnormal enzyme concentration or activity	4547	MTTP	ORPHA:14
HP:0034684	Abnormal enzyme concentration or activity	55340	GIMAP5	OMIM:619463
HP:0034684	Abnormal enzyme concentration or activity	57511	COG6	OMIM:614576
HP:0034684	Abnormal enzyme concentration or activity	7289	TULP3	OMIM:619902
HP:0034684	Abnormal enzyme concentration or activity	56623	INPP5E	ORPHA:1454
HP:0034684	Abnormal enzyme concentration or activity	23322	RPGRIP1L	ORPHA:1454
HP:0034684	Abnormal enzyme concentration or activity	57545	CC2D2A	ORPHA:1454
HP:0034684	Abnormal enzyme concentration or activity	57545	CC2D2A	OMIM:619111
HP:0034684	Abnormal enzyme concentration or activity	672	BRCA1	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	285282	RABL3	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	675	BRCA2	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	3845	KRAS	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	1029	CDKN2A	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	79728	PALB2	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	4089	SMAD4	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	23022	PALLD	ORPHA:1333
HP:0034684	Abnormal enzyme concentration or activity	23495	TNFRSF13B	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	4790	NFKB1	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	4791	NFKB2	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	115650	TNFRSF13C	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	1380	CR2	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	8742	TNFSF12	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	930	CD19	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	29851	ICOS	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	931	MS4A1	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	975	CD81	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	359948	IRF2BP2	ORPHA:1572
HP:0034684	Abnormal enzyme concentration or activity	148738	HJV	ORPHA:79230
HP:0034684	Abnormal enzyme concentration or activity	5498	PPOX	ORPHA:79473
HP:0034684	Abnormal enzyme concentration or activity	1756	DMD	ORPHA:98895
HP:0034684	Abnormal enzyme concentration or activity	650	BMP2	OMIM:235200
HP:0034684	Abnormal enzyme concentration or activity	26160	IFT172	OMIM:619471
HP:0034684	Abnormal enzyme concentration or activity	51241	COX16	OMIM:619355
HP:0034684	Abnormal enzyme concentration or activity	3975	LHX1	ORPHA:261265
HP:0034684	Abnormal enzyme concentration or activity	10367	MICU1	OMIM:615673
HP:0034684	Abnormal enzyme concentration or activity	26580	BSCL2	OMIM:269700
HP:0034684	Abnormal enzyme concentration or activity	6711	SPTBN1	OMIM:619475
HP:0034684	Abnormal enzyme concentration or activity	51520	LARS1	OMIM:615438
HP:0034684	Abnormal enzyme concentration or activity	4534	MTM1	OMIM:310400
HP:0034684	Abnormal enzyme concentration or activity	7036	TFR2	OMIM:604250
HP:0034684	Abnormal enzyme concentration or activity	440138	ALG11	ORPHA:280071
HP:0034684	Abnormal enzyme concentration or activity	10651	MTX2	OMIM:619127
HP:0034684	Abnormal enzyme concentration or activity	51124	IER3IP1	OMIM:614231
HP:0034684	Abnormal enzyme concentration or activity	200931	SLC51A	OMIM:619484
HP:0034684	Abnormal enzyme concentration or activity	51816	ADA2	OMIM:615688
HP:0034684	Abnormal enzyme concentration or activity	28957	MRPS28	OMIM:618958
HP:0034684	Abnormal enzyme concentration or activity	3075	CFH	ORPHA:244242
HP:0034684	Abnormal enzyme concentration or activity	3426	CFI	ORPHA:244242
HP:0034684	Abnormal enzyme concentration or activity	4179	CD46	ORPHA:244242
HP:0034684	Abnormal enzyme concentration or activity	101101692	HELLPAR	ORPHA:244242
HP:0034684	Abnormal enzyme concentration or activity	51473	DCDC2	ORPHA:84081
HP:0034684	Abnormal enzyme concentration or activity	2998	GYS2	ORPHA:2089
HP:0034684	Abnormal enzyme concentration or activity	100506658	OCLN	OMIM:251290
HP:0034684	Abnormal enzyme concentration or activity	3033	HADH	ORPHA:71212
HP:0034684	Abnormal enzyme concentration or activity	27232	GNMT	OMIM:606664
HP:0034684	Abnormal enzyme concentration or activity	617	BCS1L	OMIM:124000
HP:0034684	Abnormal enzyme concentration or activity	51	ACOX1	OMIM:264470
HP:0034684	Abnormal enzyme concentration or activity	1650	DDOST	ORPHA:300536
HP:0034684	Abnormal enzyme concentration or activity	2819	GPD1	OMIM:614480
HP:0034684	Abnormal enzyme concentration or activity	1537	CYC1	OMIM:615453
HP:0034684	Abnormal enzyme concentration or activity	2193	FARSA	OMIM:619013
HP:0034684	Abnormal enzyme concentration or activity	178	AGL	OMIM:232400
HP:0034684	Abnormal enzyme concentration or activity	51099	ABHD5	ORPHA:98907
HP:0034684	Abnormal enzyme concentration or activity	5557	PRIM1	OMIM:620005
HP:0034684	Abnormal enzyme concentration or activity	3295	HSD17B4	OMIM:261515
HP:0034684	Abnormal enzyme concentration or activity	10020	GNE	ORPHA:3166
HP:0034684	Abnormal enzyme concentration or activity	8481	OFD1	ORPHA:2750
HP:0034684	Abnormal enzyme concentration or activity	9451	EIF2AK3	ORPHA:1667
HP:0034684	Abnormal enzyme concentration or activity	37	ACADVL	ORPHA:26793
HP:0034684	Abnormal enzyme concentration or activity	4627	MYH9	ORPHA:182050
HP:0034684	Abnormal enzyme concentration or activity	157657	CFAP418	OMIM:617406
HP:0034684	Abnormal enzyme concentration or activity	90523	MLIP	OMIM:620138
HP:0034684	Abnormal enzyme concentration or activity	5696	PSMB8	OMIM:256040
HP:0034684	Abnormal enzyme concentration or activity	22909	FAN1	OMIM:614817
HP:0034684	Abnormal enzyme concentration or activity	4337	MOCS1	OMIM:252150
HP:0034684	Abnormal enzyme concentration or activity	9488	PIGB	OMIM:618580
HP:0034684	Abnormal enzyme concentration or activity	79705	LRRK1	OMIM:615198
HP:0034684	Abnormal enzyme concentration or activity	55503	TRPV6	OMIM:618188
HP:0034684	Abnormal enzyme concentration or activity	10312	TCIRG1	OMIM:259700
HP:0034684	Abnormal enzyme concentration or activity	10312	TCIRG1	ORPHA:210110
HP:0034684	Abnormal enzyme concentration or activity	5279	PIGC	OMIM:617816
HP:0034684	Abnormal enzyme concentration or activity	5745	PTH1R	OMIM:600002
HP:0034684	Abnormal enzyme concentration or activity	5745	PTH1R	OMIM:156400
HP:0034684	Abnormal enzyme concentration or activity	128869	PIGU	OMIM:618590
HP:0034684	Abnormal enzyme concentration or activity	8792	TNFRSF11A	OMIM:174810
HP:0034684	Abnormal enzyme concentration or activity	8792	TNFRSF11A	OMIM:602080
HP:0034684	Abnormal enzyme concentration or activity	10026	PIGK	OMIM:618879
HP:0034684	Abnormal enzyme concentration or activity	120227	CYP2R1	OMIM:600081
HP:0034684	Abnormal enzyme concentration or activity	55650	PIGV	OMIM:239300
HP:0034684	Abnormal enzyme concentration or activity	55650	PIGV	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	56975	FAM20C	OMIM:259775
HP:0034684	Abnormal enzyme concentration or activity	5251	PHEX	OMIM:307800
HP:0034684	Abnormal enzyme concentration or activity	5251	PHEX	ORPHA:89936
HP:0034684	Abnormal enzyme concentration or activity	90	ACVR1	OMIM:135100
HP:0034684	Abnormal enzyme concentration or activity	84992	PIGY	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	84992	PIGY	OMIM:616809
HP:0034684	Abnormal enzyme concentration or activity	84720	PIGO	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	84720	PIGO	OMIM:614749
HP:0034684	Abnormal enzyme concentration or activity	93210	PGAP3	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	93210	PGAP3	OMIM:615716
HP:0034684	Abnormal enzyme concentration or activity	284098	PIGW	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	284098	PIGW	OMIM:616025
HP:0034684	Abnormal enzyme concentration or activity	27315	PGAP2	ORPHA:247262
HP:0034684	Abnormal enzyme concentration or activity	27315	PGAP2	OMIM:614207
HP:0034684	Abnormal enzyme concentration or activity	4982	TNFRSF11B	OMIM:239000
HP:0034684	Abnormal enzyme concentration or activity	1594	CYP27B1	OMIM:264700
HP:0034684	Abnormal enzyme concentration or activity	5277	PIGA	OMIM:300868
HP:0034684	Abnormal enzyme concentration or activity	3178	HNRNPA1	OMIM:615424
HP:0034684	Abnormal enzyme concentration or activity	3178	HNRNPA1	OMIM:615426
HP:0034684	Abnormal enzyme concentration or activity	3178	HNRNPA1	ORPHA:52430
HP:0034684	Abnormal enzyme concentration or activity	7421	VDR	OMIM:277440
HP:0034684	Abnormal enzyme concentration or activity	3181	HNRNPA2B1	OMIM:615422
HP:0034684	Abnormal enzyme concentration or activity	3181	HNRNPA2B1	ORPHA:52430
HP:0034684	Abnormal enzyme concentration or activity	54872	PIGG	OMIM:616917
HP:0034684	Abnormal enzyme concentration or activity	1576	CYP3A4	OMIM:619073
HP:0034684	Abnormal enzyme concentration or activity	1186	CLCN7	ORPHA:210110
HP:0034684	Abnormal enzyme concentration or activity	9842	PLEKHM1	ORPHA:210110
HP:0034684	Abnormal enzyme concentration or activity	8074	FGF23	ORPHA:89937
HP:0034684	Abnormal enzyme concentration or activity	8074	FGF23	OMIM:193100
HP:0034684	Abnormal enzyme concentration or activity	5311	PKD2	OMIM:613095
HP:0034684	Abnormal enzyme concentration or activity	57003	CCDC47	OMIM:618268
HP:0034684	Abnormal enzyme concentration or activity	142680	SLC34A3	OMIM:241530
HP:0034684	Abnormal enzyme concentration or activity	94005	PIGS	OMIM:618143
HP:0034684	Abnormal enzyme concentration or activity	9091	PIGQ	OMIM:618548
HP:0034684	Abnormal enzyme concentration or activity	5589	PRKCSH	OMIM:174050
HP:0034684	Abnormal enzyme concentration or activity	3594	IL12RB1	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	23534	TNPO3	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	3592	IL12A	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	6689	SPIB	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	5450	POU2AF1	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	9966	TNFSF15	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	79258	MMEL1	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	3663	IRF5	ORPHA:186
HP:0034684	Abnormal enzyme concentration or activity	8733	GPAA1	ORPHA:529665
HP:0034684	Abnormal enzyme concentration or activity	2628	GATM	OMIM:134600
HP:0034684	Abnormal enzyme concentration or activity	8878	SQSTM1	OMIM:167250
HP:0034684	Abnormal enzyme concentration or activity	7415	VCP	ORPHA:52430
HP:0034684	Abnormal enzyme concentration or activity	7415	VCP	ORPHA:329475
HP:0034684	Abnormal enzyme concentration or activity	50964	SOST	OMIM:122860
HP:0034684	Abnormal enzyme concentration or activity	23387	SIK3	OMIM:618162
HP:0034684	Abnormal enzyme concentration or activity	5167	ENPP1	OMIM:613312
HP:0034684	Abnormal enzyme concentration or activity	63916	ELMO2	OMIM:606893
HP:0034684	Abnormal enzyme concentration or activity	6522	SLC4A2	OMIM:620366
HP:0034684	Abnormal enzyme concentration or activity	166929	SGMS2	OMIM:126550
HP:0034684	Abnormal enzyme concentration or activity	60681	FKBP10	OMIM:610968
HP:0034684	Abnormal enzyme concentration or activity	57592	ZNF687	OMIM:616833
HP:0034684	Abnormal enzyme concentration or activity	4688	NCF2	OMIM:233710
HP:0034684	Abnormal enzyme concentration or activity	133686	NADK2	ORPHA:431361
HP:0034684	Abnormal enzyme concentration or activity	1536	CYBB	OMIM:306400
HP:0034684	Abnormal enzyme concentration or activity	653361	NCF1	OMIM:233700
HP:0034684	Abnormal enzyme concentration or activity	1535	CYBA	OMIM:233690
HP:0034684	Abnormal enzyme concentration or activity	2395	FXN	OMIM:229300
HP:0034684	Abnormal enzyme concentration or activity	27249	MMADHC	OMIM:277410
HP:0034684	Abnormal enzyme concentration or activity	326625	MMAB	OMIM:251110
HP:0034684	Abnormal enzyme concentration or activity	25974	MMACHC	OMIM:277400
HP:0034684	Abnormal enzyme concentration or activity	5052	PRDX1	OMIM:277400
HP:0034684	Abnormal enzyme concentration or activity	166785	MMAA	OMIM:251100
HP:0034684	Abnormal enzyme concentration or activity	5631	PRPS1	ORPHA:411543
HP:0034684	Abnormal enzyme concentration or activity	5631	PRPS1	ORPHA:411536
HP:0034684	Abnormal enzyme concentration or activity	5631	PRPS1	OMIM:300661
HP:0034684	Abnormal enzyme concentration or activity	3029	HAGH	OMIM:614033
HP:0034684	Abnormal enzyme concentration or activity	7372	UMPS	OMIM:258900
HP:0034684	Abnormal enzyme concentration or activity	249	ALPL	OMIM:146300
HP:0034684	Abnormal enzyme concentration or activity	249	ALPL	OMIM:241500
HP:0034684	Abnormal enzyme concentration or activity	249	ALPL	OMIM:241510
HP:0034684	Abnormal enzyme concentration or activity	55630	SLC39A4	OMIM:201100
HP:0034684	Abnormal enzyme concentration or activity	497661	C18orf32	OMIM:619985
HP:0034684	Abnormal enzyme concentration or activity	51604	PIGT	ORPHA:369837
HP:0034684	Abnormal enzyme concentration or activity	2937	GSS	OMIM:266130
HP:0034684	Abnormal enzyme concentration or activity	2937	GSS	OMIM:231900
HP:0034684	Abnormal enzyme concentration or activity	10577	NPC2	OMIM:607625
HP:0034684	Abnormal enzyme concentration or activity	4864	NPC1	OMIM:257220
HP:0034684	Abnormal enzyme concentration or activity	5095	PCCA	ORPHA:35
HP:0034684	Abnormal enzyme concentration or activity	5095	PCCA	OMIM:606054
HP:0034684	Abnormal enzyme concentration or activity	5096	PCCB	ORPHA:35
HP:0034684	Abnormal enzyme concentration or activity	5096	PCCB	OMIM:606054
HP:0034684	Abnormal enzyme concentration or activity	64087	MCCC2	OMIM:210210
HP:0034684	Abnormal enzyme concentration or activity	4552	MTRR	OMIM:236270
HP:0034684	Abnormal enzyme concentration or activity	55788	LMBRD1	OMIM:277380
HP:0034684	Abnormal enzyme concentration or activity	5826	ABCD4	OMIM:614857
HP:0034684	Abnormal enzyme concentration or activity	4548	MTR	OMIM:250940
HP:0034684	Abnormal enzyme concentration or activity	217	ALDH2	OMIM:610251
HP:0034684	Abnormal enzyme concentration or activity	7498	XDH	OMIM:278300
HP:0034684	Abnormal enzyme concentration or activity	2271	FH	OMIM:606812
HP:0034684	Abnormal enzyme concentration or activity	2271	FH	OMIM:150800
HP:0034684	Abnormal enzyme concentration or activity	84572	GNPTG	OMIM:252605
HP:0034684	Abnormal enzyme concentration or activity	79158	GNPTAB	OMIM:252600
HP:0034684	Abnormal enzyme concentration or activity	79158	GNPTAB	OMIM:252500
HP:0034684	Abnormal enzyme concentration or activity	2821	GPI	OMIM:613470
HP:0034684	Abnormal enzyme concentration or activity	4338	MOCS2	OMIM:252160
HP:0034684	Abnormal enzyme concentration or activity	10243	GPHN	OMIM:615501
HP:0034684	Abnormal enzyme concentration or activity	6821	SUOX	OMIM:272300
HP:0034684	Abnormal enzyme concentration or activity	1806	DPYD	OMIM:274270
HP:0034684	Abnormal enzyme concentration or activity	1806	DPYD	ORPHA:1675
HP:0034684	Abnormal enzyme concentration or activity	1807	DPYS	OMIM:222748
HP:0034684	Abnormal enzyme concentration or activity	4247	MGAT2	ORPHA:79329
HP:0034684	Abnormal enzyme concentration or activity	10483	SEC23B	OMIM:224100
HP:0034684	Abnormal enzyme concentration or activity	2629	GBA1	OMIM:231000
HP:0034684	Abnormal enzyme concentration or activity	633	BGN	OMIM:300106
HP:0034684	Abnormal enzyme concentration or activity	6452	SH3BP2	OMIM:118400
HP:0034684	Abnormal enzyme concentration or activity	5281	PIGF	OMIM:619356
HP:0034684	Abnormal enzyme concentration or activity	5283	PIGH	OMIM:618010
HP:0034684	Abnormal enzyme concentration or activity	25	ABL1	OMIM:608232
HP:0034684	Abnormal enzyme concentration or activity	613	BCR	OMIM:608232
HP:0034684	Abnormal enzyme concentration or activity	5053	PAH	OMIM:261600
HP:0034684	Abnormal enzyme concentration or activity	2720	GLB1	OMIM:253010
HP:0034684	Abnormal enzyme concentration or activity	2720	GLB1	OMIM:230650
HP:0034684	Abnormal enzyme concentration or activity	2720	GLB1	OMIM:230500
HP:0034684	Abnormal enzyme concentration or activity	2720	GLB1	OMIM:230600
HP:0034684	Abnormal enzyme concentration or activity	2720	GLB1	ORPHA:79255
HP:0034684	Abnormal enzyme concentration or activity	5476	CTSA	OMIM:256540
HP:0034684	Abnormal enzyme concentration or activity	2582	GALE	OMIM:230350
HP:0034684	Abnormal enzyme concentration or activity	1441	CSF3R	OMIM:162830
HP:0034684	Abnormal enzyme concentration or activity	4883	NPR3	OMIM:619543
HP:0034684	Abnormal enzyme concentration or activity	6569	SLC34A1	ORPHA:157215
HP:0034684	Abnormal enzyme concentration or activity	1758	DMP1	ORPHA:289176
HP:0034684	Abnormal enzyme concentration or activity	368	ABCC6	ORPHA:51608
HP:0034684	Abnormal enzyme concentration or activity	4882	NPR2	OMIM:615923
HP:0034684	Abnormal enzyme concentration or activity	1497	CTNS	ORPHA:411634
HP:0034684	Abnormal enzyme concentration or activity	2099	ESR1	ORPHA:785
HP:0034684	Abnormal enzyme concentration or activity	4524	MTHFR	ORPHA:395
HP:0034684	Abnormal enzyme concentration or activity	10841	FTCD	ORPHA:51208
HP:0034684	Abnormal enzyme concentration or activity	1593	CYP27A1	ORPHA:909
HP:0034684	Abnormal enzyme concentration or activity	3795	KHK	ORPHA:2056
HP:0034684	Abnormal enzyme concentration or activity	8659	ALDH4A1	ORPHA:79101
HP:0034684	Abnormal enzyme concentration or activity	415	ARSL	ORPHA:79345
HP:0034684	Abnormal enzyme concentration or activity	10128	LRPPRC	ORPHA:70472
HP:0034684	Abnormal enzyme concentration or activity	85365	ALG2	ORPHA:79326
HP:0034684	Abnormal enzyme concentration or activity	3028	HSD17B10	ORPHA:391457
HP:0034684	Abnormal enzyme concentration or activity	3028	HSD17B10	ORPHA:391428
HP:0034684	Abnormal enzyme concentration or activity	443	ASPA	ORPHA:314918
HP:0034684	Abnormal enzyme concentration or activity	10157	AASS	ORPHA:2203
HP:0034684	Abnormal enzyme concentration or activity	79048	SECISBP2	ORPHA:171706
HP:0034684	Abnormal enzyme concentration or activity	1356	CP	ORPHA:48818
HP:0034684	Abnormal enzyme concentration or activity	8292	COLQ	ORPHA:98915
HP:0034684	Abnormal enzyme concentration or activity	3913	LAMB2	ORPHA:98915
HP:0034684	Abnormal enzyme concentration or activity	353	APRT	ORPHA:976
HP:0034684	Abnormal enzyme concentration or activity	55129	ANO10	ORPHA:284289
HP:0034684	Abnormal enzyme concentration or activity	4351	MPI	ORPHA:79319
HP:0034684	Abnormal enzyme concentration or activity	590	BCHE	ORPHA:132
HP:0034684	Abnormal enzyme concentration or activity	84340	GFM2	ORPHA:565624
HP:0034684	Abnormal enzyme concentration or activity	210	ALAD	ORPHA:100924
HP:0034684	Abnormal enzyme concentration or activity	130589	GALM	ORPHA:570422
HP:0034684	Abnormal enzyme concentration or activity	11181	TREH	ORPHA:103909
HP:0034684	Abnormal enzyme concentration or activity	29958	DMGDH	ORPHA:243343
HP:0034684	Abnormal enzyme concentration or activity	5660	PSAP	ORPHA:206436
HP:0034684	Abnormal enzyme concentration or activity	29929	ALG6	ORPHA:79320
HP:0034684	Abnormal enzyme concentration or activity	10195	ALG3	ORPHA:79321
HP:0034684	Abnormal enzyme concentration or activity	1737	DLAT	ORPHA:79244
HP:0034684	Abnormal enzyme concentration or activity	5351	PLOD1	ORPHA:1900
HP:0034684	Abnormal enzyme concentration or activity	9526	MPDU1	ORPHA:79323
HP:0034684	Abnormal enzyme concentration or activity	10352	WARS2	ORPHA:572798
HP:0034684	Abnormal enzyme concentration or activity	28234	SLCO1B3	ORPHA:3111
HP:0034684	Abnormal enzyme concentration or activity	10599	SLCO1B1	ORPHA:3111
HP:0034684	Abnormal enzyme concentration or activity	3145	HMBS	ORPHA:79276
HP:0034684	Abnormal enzyme concentration or activity	760	CA2	ORPHA:2785
HP:0034684	Abnormal enzyme concentration or activity	11330	CTRC	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	5644	PRSS1	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	5645	PRSS2	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	6690	SPINK1	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	846	CASR	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	1357	CPA1	ORPHA:676
HP:0034684	Abnormal enzyme concentration or activity	54808	DYM	ORPHA:239
HP:0034684	Abnormal enzyme concentration or activity	2584	GALK1	ORPHA:79237
HP:0034684	Abnormal enzyme concentration or activity	847	CAT	ORPHA:926
HP:0034684	Abnormal enzyme concentration or activity	847	CAT	OMIM:614097
HP:0034684	Abnormal enzyme concentration or activity	5213	PFKM	OMIM:232800
HP:0034684	Abnormal enzyme concentration or activity	3339	HSPG2	ORPHA:800
HP:0034684	Abnormal enzyme concentration or activity	5313	PKLR	OMIM:266200
HP:0034684	Abnormal enzyme concentration or activity	5313	PKLR	ORPHA:766
HP:0034684	Abnormal enzyme concentration or activity	3938	LCT	OMIM:223000
HP:0034684	Abnormal enzyme concentration or activity	4175	MCM6	OMIM:223100
HP:0034684	Abnormal enzyme concentration or activity	3931	LCAT	OMIM:245900
HP:0034684	Abnormal enzyme concentration or activity	3043	HBB	ORPHA:232
HP:0034684	Abnormal enzyme concentration or activity	3123	HLA-DRB1	ORPHA:747
HP:0034684	Abnormal enzyme concentration or activity	4352	MPL	ORPHA:824
HP:0034684	Abnormal enzyme concentration or activity	6775	STAT4	ORPHA:93552
HP:0034684	Abnormal enzyme concentration or activity	6696	SPP1	ORPHA:93552
HP:0034684	Abnormal enzyme concentration or activity	3654	IRAK1	ORPHA:93552
HP:0034684	Abnormal enzyme concentration or activity	79650	USB1	OMIM:604173
HP:0034684	Abnormal enzyme concentration or activity	5339	PLEC	ORPHA:254361
HP:0034684	Abnormal enzyme concentration or activity	4609	MYC	ORPHA:543
HP:0034684	Abnormal enzyme concentration or activity	6573	SLC19A1	OMIM:601775
HP:0034684	Abnormal enzyme concentration or activity	4522	MTHFD1	OMIM:617780
HP:0034684	Abnormal enzyme concentration or activity	6786	STIM1	OMIM:185070
HP:0034684	Abnormal enzyme concentration or activity	10531	PITRM1	OMIM:619405
HP:0034684	Abnormal enzyme concentration or activity	5294	PIK3CG	OMIM:619802
HP:0034684	Abnormal enzyme concentration or activity	54888	NSUN2	OMIM:611091
HP:0034684	Abnormal enzyme concentration or activity	339855	KY	OMIM:617114
HP:0034684	Abnormal enzyme concentration or activity	2694	CBLIF	OMIM:261000
HP:0034684	Abnormal enzyme concentration or activity	6208	RPS14	ORPHA:86841
HP:0034684	Abnormal enzyme concentration or activity	10661	KLF1	OMIM:613673
HP:0034684	Abnormal enzyme concentration or activity	8398	PLA2G6	ORPHA:35069
HP:0034684	Abnormal enzyme concentration or activity	1719	DHFR	OMIM:613839
HP:0034684	Abnormal enzyme concentration or activity	6521	SLC4A1	ORPHA:3202
HP:0034684	Abnormal enzyme concentration or activity	9780	PIEZO1	ORPHA:3202
HP:0034684	Abnormal enzyme concentration or activity	6005	RHAG	ORPHA:3203
HP:0034684	Abnormal enzyme concentration or activity	6005	RHAG	ORPHA:71275
HP:0034684	Abnormal enzyme concentration or activity	64241	ABCG8	OMIM:210250
HP:0034684	Abnormal enzyme concentration or activity	146059	CDAN1	OMIM:224120
HP:0034684	Abnormal enzyme concentration or activity	6006	RHCE	ORPHA:71275
HP:0034684	Abnormal enzyme concentration or activity	6007	RHD	ORPHA:71275
HP:0034684	Abnormal enzyme concentration or activity	2313	FLI1	ORPHA:370348
HP:0034684	Abnormal enzyme concentration or activity	6135	RPL11	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6138	RPL15	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6138	RPL15	OMIM:615550
HP:0034684	Abnormal enzyme concentration or activity	6229	RPS24	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6229	RPS24	OMIM:610629
HP:0034684	Abnormal enzyme concentration or activity	6125	RPL5	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6204	RPS10	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6224	RPS20	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6165	RPL35A	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6223	RPS19	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6223	RPS19	OMIM:105650
HP:0034684	Abnormal enzyme concentration or activity	6232	RPS27	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6231	RPS26	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	11224	RPL35	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6160	RPL31	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6218	RPS17	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6201	RPS7	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6155	RPL27	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6154	RPL26	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6210	RPS15A	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	90121	TSR2	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	90121	TSR2	OMIM:300946
HP:0034684	Abnormal enzyme concentration or activity	6141	RPL18	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6235	RPS29	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	6235	RPS29	OMIM:615909
HP:0034684	Abnormal enzyme concentration or activity	6234	RPS28	ORPHA:124
HP:0034684	Abnormal enzyme concentration or activity	100	ADA	OMIM:102700
HP:0034684	Abnormal enzyme concentration or activity	197258	FCSK	OMIM:618324
HP:0034684	Abnormal enzyme concentration or activity	6513	SLC2A1	OMIM:608885
HP:0034684	Abnormal enzyme concentration or activity	199221	DZIP1L	ORPHA:731
HP:0034684	Abnormal enzyme concentration or activity	23019	CNOT1	ORPHA:556955
HP:0034684	Abnormal enzyme concentration or activity	171023	ASXL1	ORPHA:98850
HP:0034684	Abnormal enzyme concentration or activity	171023	ASXL1	ORPHA:98849
HP:0034684	Abnormal enzyme concentration or activity	54790	TET2	ORPHA:98850
HP:0034684	Abnormal enzyme concentration or activity	54790	TET2	ORPHA:98849
HP:0034684	Abnormal enzyme concentration or activity	867	CBL	ORPHA:98850
HP:0034684	Abnormal enzyme concentration or activity	861	RUNX1	ORPHA:98850
HP:0034684	Abnormal enzyme concentration or activity	6427	SRSF2	ORPHA:98850
HP:0034684	Abnormal enzyme concentration or activity	6427	SRSF2	ORPHA:98849
HP:0034684	Abnormal enzyme concentration or activity	3815	KIT	ORPHA:98849
HP:0034684	Abnormal enzyme concentration or activity	3815	KIT	ORPHA:79455
HP:0034684	Abnormal enzyme concentration or activity	91949	COG7	OMIM:608779
HP:0034684	Abnormal enzyme concentration or activity	3376	IARS1	OMIM:617093
HP:0034684	Abnormal enzyme concentration or activity	286053	NSMCE2	OMIM:617253
HP:0034684	Abnormal enzyme concentration or activity	4952	OCRL	OMIM:300555
HP:0034684	Abnormal enzyme concentration or activity	8482	SEMA7A	OMIM:619874
HP:0034684	Abnormal enzyme concentration or activity	57128	LYRM4	OMIM:615595
HP:0034684	Abnormal enzyme concentration or activity	65080	MRPL44	OMIM:615395
HP:0034684	Abnormal enzyme concentration or activity	570	BAAT	OMIM:619232
HP:0034684	Abnormal enzyme concentration or activity	11222	MRPL3	OMIM:614582
HP:0034684	Abnormal enzyme concentration or activity	7381	UQCRB	OMIM:615158
HP:0034684	Abnormal enzyme concentration or activity	5009	OTC	OMIM:311250
HP:0034684	Abnormal enzyme concentration or activity	5580	PRKCD	OMIM:615559
HP:0034684	Abnormal enzyme concentration or activity	5828	PEX2	OMIM:614866
HP:0034684	Abnormal enzyme concentration or activity	435	ASL	OMIM:207900
HP:0034684	Abnormal enzyme concentration or activity	2592	GALT	OMIM:230400
HP:0034684	Abnormal enzyme concentration or activity	338	APOB	OMIM:615558
HP:0034684	Abnormal enzyme concentration or activity	9420	CYP7B1	OMIM:613812
HP:0034684	Abnormal enzyme concentration or activity	9420	CYP7B1	ORPHA:79302
HP:0034684	Abnormal enzyme concentration or activity	23600	AMACR	OMIM:214950
HP:0034684	Abnormal enzyme concentration or activity	123264	SLC51B	OMIM:619481
HP:0034684	Abnormal enzyme concentration or activity	10165	SLC25A13	OMIM:605814
HP:0034684	Abnormal enzyme concentration or activity	197131	UBR1	OMIM:243800
HP:0034684	Abnormal enzyme concentration or activity	55610	VPS50	OMIM:619685
HP:0034684	Abnormal enzyme concentration or activity	7504	XK	OMIM:300842
HP:0034684	Abnormal enzyme concentration or activity	6514	SLC2A2	OMIM:227810
HP:0034684	Abnormal enzyme concentration or activity	6514	SLC2A2	ORPHA:2088
HP:0034684	Abnormal enzyme concentration or activity	6341	SCO1	OMIM:619048
HP:0034684	Abnormal enzyme concentration or activity	4141	MARS1	OMIM:615486
HP:0034684	Abnormal enzyme concentration or activity	3162	HMOX1	OMIM:614034
HP:0034684	Abnormal enzyme concentration or activity	54931	TRMT10C	OMIM:616974
HP:0034684	Abnormal enzyme concentration or activity	5184	PEPD	OMIM:170100
HP:0034684	Abnormal enzyme concentration or activity	131118	DNAJC19	OMIM:610198
HP:0034684	Abnormal enzyme concentration or activity	2542	SLC37A4	OMIM:619525
HP:0034684	Abnormal enzyme concentration or activity	8309	ACOX2	OMIM:617308
HP:0034684	Abnormal enzyme concentration or activity	9409	PEX16	OMIM:614876
HP:0034684	Abnormal enzyme concentration or activity	7486	WRN	OMIM:277700
HP:0034684	Abnormal enzyme concentration or activity	540	ATP7B	OMIM:277900
HP:0034684	Abnormal enzyme concentration or activity	3030	HADHA	OMIM:609015
HP:0034684	Abnormal enzyme concentration or activity	56652	TWNK	OMIM:271245
HP:0034684	Abnormal enzyme concentration or activity	2273	FHL1	OMIM:300280
HP:0034684	Abnormal enzyme concentration or activity	1376	CPT2	OMIM:608836
HP:0034684	Abnormal enzyme concentration or activity	79989	IFT56	OMIM:619534
HP:0034684	Abnormal enzyme concentration or activity	51116	MRPS2	OMIM:617950
HP:0034684	Abnormal enzyme concentration or activity	537	ATP6AP1	OMIM:300972
HP:0034684	Abnormal enzyme concentration or activity	9215	LARGE1	OMIM:613154
HP:0034684	Abnormal enzyme concentration or activity	50619	DEF6	OMIM:619573
HP:0034684	Abnormal enzyme concentration or activity	348	APOE	OMIM:269600
HP:0034684	Abnormal enzyme concentration or activity	3988	LIPA	OMIM:278000
HP:0034684	Abnormal enzyme concentration or activity	11232	POLG2	OMIM:618528
HP:0034684	Abnormal enzyme concentration or activity	9487	PIGL	OMIM:280000
HP:0034684	Abnormal enzyme concentration or activity	859	CAV3	OMIM:614321
HP:0034684	Abnormal enzyme concentration or activity	191	AHCY	OMIM:613752
HP:0034684	Abnormal enzyme concentration or activity	1374	CPT1A	OMIM:255120
HP:0034684	Abnormal enzyme concentration or activity	4358	MPV17	OMIM:256810
HP:0034684	Abnormal enzyme concentration or activity	5236	PGM1	OMIM:614921
HP:0034684	Abnormal enzyme concentration or activity	54532	USP53	OMIM:619658
HP:0034684	Abnormal enzyme concentration or activity	5195	PEX14	OMIM:614887
HP:0034684	Abnormal enzyme concentration or activity	55858	TMEM165	OMIM:614727
HP:0034684	Abnormal enzyme concentration or activity	7841	MOGS	OMIM:606056
HP:0034684	Abnormal enzyme concentration or activity	124454	EARS2	OMIM:614924
HP:0034684	Abnormal enzyme concentration or activity	3158	HMGCS2	OMIM:605911
HP:0034684	Abnormal enzyme concentration or activity	8802	SUCLG1	OMIM:245400
HP:0034684	Abnormal enzyme concentration or activity	84342	COG8	OMIM:611182
HP:0034684	Abnormal enzyme concentration or activity	9054	NFS1	OMIM:619386
HP:0034684	Abnormal enzyme concentration or activity	113220	KIF12	OMIM:619662
HP:0034684	Abnormal enzyme concentration or activity	1794	DOCK2	OMIM:616433
HP:0034684	Abnormal enzyme concentration or activity	23230	VPS13A	ORPHA:2388
HP:0034684	Abnormal enzyme concentration or activity	9971	NR1H4	OMIM:617049
HP:0034684	Abnormal enzyme concentration or activity	2683	B4GALT1	OMIM:607091
HP:0034684	Abnormal enzyme concentration or activity	4645	MYO5B	OMIM:619868
HP:0034684	Abnormal enzyme concentration or activity	26276	VPS33B	OMIM:620010
HP:0034684	Abnormal enzyme concentration or activity	6584	SLC22A5	OMIM:212140
HP:0034684	Abnormal enzyme concentration or activity	132	ADK	OMIM:614300
HP:0034684	Abnormal enzyme concentration or activity	5314	PKHD1	ORPHA:53035
HP:0034684	Abnormal enzyme concentration or activity	2548	GAA	ORPHA:308552
HP:0034684	Abnormal enzyme concentration or activity	226	ALDOA	OMIM:611881
HP:0034684	Abnormal enzyme concentration or activity	55687	TRMU	OMIM:613070
HP:0034684	Abnormal enzyme concentration or activity	5105	PCK1	OMIM:261680
HP:0034684	Abnormal enzyme concentration or activity	26007	TKFC	OMIM:618805
HP:0034684	Abnormal enzyme concentration or activity	8772	FADD	OMIM:613759
HP:0034684	Abnormal enzyme concentration or activity	587	BCAT2	OMIM:618850
HP:0034684	Abnormal enzyme concentration or activity	5424	POLD1	OMIM:615381
HP:0034684	Abnormal enzyme concentration or activity	6773	STAT2	OMIM:616636
HP:0034684	Abnormal enzyme concentration or activity	7915	ALDH5A1	OMIM:271980
HP:0034684	Abnormal enzyme concentration or activity	6476	SI	OMIM:222900
HP:0034684	Abnormal enzyme concentration or activity	3074	HEXB	ORPHA:309162
HP:0034684	Abnormal enzyme concentration or activity	3074	HEXB	ORPHA:309155
HP:0034684	Abnormal enzyme concentration or activity	3074	HEXB	ORPHA:309169
HP:0034684	Abnormal enzyme concentration or activity	3074	HEXB	OMIM:268800
HP:0034684	Abnormal enzyme concentration or activity	3423	IDS	OMIM:309900
HP:0034684	Abnormal enzyme concentration or activity	6609	SMPD1	OMIM:607616
HP:0034684	Abnormal enzyme concentration or activity	2581	GALC	OMIM:245200
HP:0034684	Abnormal enzyme concentration or activity	4126	MANBA	OMIM:248510
HP:0034684	Abnormal enzyme concentration or activity	2678	GGT1	OMIM:231950
HP:0034684	Abnormal enzyme concentration or activity	270	AMPD1	OMIM:615511
HP:0034684	Abnormal enzyme concentration or activity	2027	ENO3	OMIM:612932
HP:0034684	Abnormal enzyme concentration or activity	79783	SUGCT	OMIM:231690
HP:0034684	Abnormal enzyme concentration or activity	2639	GCDH	OMIM:231670
HP:0034684	Abnormal enzyme concentration or activity	26227	PHGDH	OMIM:601815
HP:0034684	Abnormal enzyme concentration or activity	132158	GLYCTK	OMIM:220120
HP:0034684	Abnormal enzyme concentration or activity	4125	MAN2B1	OMIM:248500
HP:0034684	Abnormal enzyme concentration or activity	7389	UROD	OMIM:176100
HP:0034684	Abnormal enzyme concentration or activity	3077	HFE	OMIM:176100
HP:0034684	Abnormal enzyme concentration or activity	2517	FUCA1	OMIM:230000
HP:0034684	Abnormal enzyme concentration or activity	26873	OPLAH	OMIM:260005
HP:0034684	Abnormal enzyme concentration or activity	7941	PLA2G7	OMIM:614278
HP:0034684	Abnormal enzyme concentration or activity	1053	CEBPE	OMIM:245480
HP:0034684	Abnormal enzyme concentration or activity	34	ACADM	ORPHA:42
HP:0034684	Abnormal enzyme concentration or activity	2624	GATA2	ORPHA:98827
HP:0034684	Abnormal enzyme concentration or activity	3939	LDHA	ORPHA:284426
HP:0034684	Abnormal enzyme concentration or activity	64374	SIL1	ORPHA:559
HP:0034684	Abnormal enzyme concentration or activity	51763	INPP5K	ORPHA:559
HP:0034684	Abnormal enzyme concentration or activity	2623	GATA1	ORPHA:67044
HP:0034684	Abnormal enzyme concentration or activity	7157	TP53	ORPHA:668
HP:0034684	Abnormal enzyme concentration or activity	5925	RB1	ORPHA:668
HP:0034684	Abnormal enzyme concentration or activity	11200	CHEK2	ORPHA:668
HP:0034684	Abnormal enzyme concentration or activity	84892	POMGNT2	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	148789	B3GALNT2	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	79147	FKRP	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	29954	POMT2	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	1282	COL4A1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	729920	CRPPA	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	10329	RXYLT1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	1605	DAG1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	11041	B4GAT1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	10585	POMT1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	84197	POMK	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	2218	FKTN	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	55624	POMGNT1	ORPHA:899
HP:0034684	Abnormal enzyme concentration or activity	3945	LDHB	OMIM:614128
HP:0034684	Abnormal enzyme concentration or activity	5244	ABCB4	OMIM:614972
HP:0034684	Abnormal enzyme concentration or activity	5205	ATP8B1	OMIM:147480
HP:0034684	Abnormal enzyme concentration or activity	686	BTD	OMIM:253260
HP:0034684	Abnormal enzyme concentration or activity	686	BTD	ORPHA:79241
HP:0034684	Abnormal enzyme concentration or activity	5191	PEX7	OMIM:266500
HP:0034684	Abnormal enzyme concentration or activity	5264	PHYH	OMIM:266500
HP:0034685	Abnormal liver enzyme activity or concentration	132158	GLYCTK	OMIM:220120
HP:0034687	Impaired cerebroside sulfate hydrolysis	410	ARSA	OMIM:250100
HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity	79783	SUGCT	OMIM:231690
HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity	2639	GCDH	OMIM:231670
HP:0004037	Abnormal ulnar epiphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0004037	Abnormal ulnar epiphysis morphology	633	BGN	OMIM:300106
HP:0004037	Abnormal ulnar epiphysis morphology	1280	COL2A1	OMIM:271700
HP:0004039	Abnormal ulnar metaphysis morphology	6638	SNRPN	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	4692	NDN	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	54551	MAGEL2	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	9401	RECQL4	ORPHA:221016
HP:0004039	Abnormal ulnar metaphysis morphology	1280	COL2A1	ORPHA:85198
HP:0004039	Abnormal ulnar metaphysis morphology	4318	MMP9	ORPHA:1040
HP:0004039	Abnormal ulnar metaphysis morphology	4322	MMP13	ORPHA:1040
HP:0004039	Abnormal ulnar metaphysis morphology	64682	ANAPC1	ORPHA:221008
HP:0004039	Abnormal ulnar metaphysis morphology	1311	COMP	OMIM:177170
HP:0004039	Abnormal ulnar metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0004035	Abnormal ulnar styloid process morphology	633	BGN	OMIM:300106
HP:0004035	Abnormal ulnar styloid process morphology	1280	COL2A1	OMIM:271700
HP:0034691	Reduced 3-phosphoglycerate dehydrogenase activity	26227	PHGDH	OMIM:601815
HP:0034697	Cutaneous telangiectasia	5429	POLH	OMIM:278750
HP:0034697	Cutaneous telangiectasia	5111	PCNA	OMIM:615919
HP:0040113	Old-aged sensorineural hearing impairment	847	CAT	ORPHA:926
HP:0040115	Abnormal Eustachian tube morphology	4487	MSX1	ORPHA:199302
HP:0040115	Abnormal Eustachian tube morphology	5818	NECTIN1	ORPHA:199302
HP:0040115	Abnormal Eustachian tube morphology	8626	TP63	ORPHA:199302
HP:0040115	Abnormal Eustachian tube morphology	3664	IRF6	ORPHA:199302
HP:0040115	Abnormal Eustachian tube morphology	80232	WDR26	ORPHA:513456
HP:0040119	Unilateral conductive hearing impairment	374879	ZNF699	OMIM:619488
HP:0004042	Ulnar metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0004042	Ulnar metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0004050	Absent hand	8517	IKBKG	ORPHA:464
HP:0004050	Absent hand	5980	REV3L	ORPHA:570
HP:0004050	Absent hand	23129	PLXND1	ORPHA:570
HP:0004050	Absent hand	64327	LMBR1	OMIM:200500
HP:0004050	Absent hand	64327	LMBR1	ORPHA:931
HP:0004050	Absent hand	1750	DLX6	ORPHA:2440
HP:0004050	Absent hand	7979	SEM1	ORPHA:2440
HP:0004050	Absent hand	8945	BTRC	ORPHA:2440
HP:0004050	Absent hand	8626	TP63	ORPHA:2440
HP:0004050	Absent hand	58513	EPS15L1	ORPHA:2440
HP:0004050	Absent hand	6468	FBXW4	ORPHA:2440
HP:0004050	Absent hand	7480	WNT10B	ORPHA:2440
HP:0004050	Absent hand	1749	DLX5	ORPHA:2440
HP:0004050	Absent hand	3516	RBPJ	ORPHA:974
HP:0004050	Absent hand	4851	NOTCH1	ORPHA:974
HP:0004050	Absent hand	57514	ARHGAP31	ORPHA:974
HP:0004050	Absent hand	57572	DOCK6	ORPHA:974
HP:0004050	Absent hand	285203	EOGT	ORPHA:974
HP:0004050	Absent hand	54567	DLL4	ORPHA:974
HP:0004050	Absent hand	6926	TBX3	ORPHA:3138
HP:0004054	Sclerosis of hand bone	4000	LMNA	ORPHA:79474
HP:0004054	Sclerosis of hand bone	10682	EBP	OMIM:302960
HP:0004054	Sclerosis of hand bone	10568	SLC34A2	ORPHA:60025
HP:0004054	Sclerosis of hand bone	23592	LEMD3	ORPHA:166119
HP:0004054	Sclerosis of hand bone	2697	GJA1	OMIM:218400
HP:0004054	Sclerosis of hand bone	2074	ERCC6	OMIM:133540
HP:0004054	Sclerosis of hand bone	1161	ERCC8	OMIM:216400
HP:0004054	Sclerosis of hand bone	4796	TONSL	ORPHA:93357
HP:0004054	Sclerosis of hand bone	9451	EIF2AK3	OMIM:226980
HP:0004054	Sclerosis of hand bone	7227	TRPS1	OMIM:190350
HP:0004054	Sclerosis of hand bone	10847	SRCAP	OMIM:136140
HP:0004054	Sclerosis of hand bone	55768	NGLY1	ORPHA:404454
HP:0004057	Mitten deformity	3909	LAMA3	ORPHA:79404
HP:0004057	Mitten deformity	3918	LAMC2	ORPHA:79404
HP:0004057	Mitten deformity	3914	LAMB3	ORPHA:79404
HP:0004057	Mitten deformity	1308	COL17A1	ORPHA:79406
HP:0004057	Mitten deformity	1308	COL17A1	ORPHA:251393
HP:0004057	Mitten deformity	4312	MMP1	ORPHA:79408
HP:0004057	Mitten deformity	4312	MMP1	OMIM:226600
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79408
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79409
HP:0004057	Mitten deformity	1294	COL7A1	OMIM:226600
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79410
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79411
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:89842
HP:0004057	Mitten deformity	1832	DSP	OMIM:609638
HP:0004057	Mitten deformity	3852	KRT5	OMIM:619599
HP:0004057	Mitten deformity	3691	ITGB4	ORPHA:251393
HP:0040121	Abnormality of the acoustic reflex	9692	PRORP	OMIM:619737
HP:0040121	Abnormality of the acoustic reflex	81624	DIAPH3	OMIM:609129
HP:0040121	Abnormality of the acoustic reflex	9381	OTOF	OMIM:601071
HP:0040121	Abnormality of the acoustic reflex	9526	MPDU1	ORPHA:79323
HP:0004059	Radial club hand	57167	SALL4	ORPHA:959
HP:0004059	Radial club hand	54809	SAMD9	OMIM:617053
HP:0004059	Radial club hand	2737	GLI3	ORPHA:93322
HP:0040126	Abnormal vitamin B12 level	5826	ABCD4	OMIM:614857
HP:0040126	Abnormal vitamin B12 level	27249	MMADHC	OMIM:277410
HP:0040126	Abnormal vitamin B12 level	326625	MMAB	OMIM:251110
HP:0040126	Abnormal vitamin B12 level	25974	MMACHC	OMIM:277400
HP:0040126	Abnormal vitamin B12 level	5052	PRDX1	OMIM:277400
HP:0040126	Abnormal vitamin B12 level	166785	MMAA	OMIM:251100
HP:0040126	Abnormal vitamin B12 level	4552	MTRR	OMIM:236270
HP:0040126	Abnormal vitamin B12 level	4522	MTHFD1	OMIM:617780
HP:0040126	Abnormal vitamin B12 level	4548	MTR	OMIM:250940
HP:0040126	Abnormal vitamin B12 level	355	FAS	ORPHA:3261
HP:0040126	Abnormal vitamin B12 level	356	FASLG	ORPHA:3261
HP:0040126	Abnormal vitamin B12 level	5580	PRKCD	ORPHA:3261
HP:0040126	Abnormal vitamin B12 level	843	CASP10	ORPHA:3261
HP:0040126	Abnormal vitamin B12 level	10125	RASGRP1	ORPHA:3261
HP:0040126	Abnormal vitamin B12 level	6948	TCN2	OMIM:275350
HP:0040126	Abnormal vitamin B12 level	11342	RNF13	ORPHA:544503
HP:0040126	Abnormal vitamin B12 level	4594	MMUT	OMIM:251000
HP:0040126	Abnormal vitamin B12 level	8029	CUBN	ORPHA:35858
HP:0040126	Abnormal vitamin B12 level	8029	CUBN	OMIM:261100
HP:0040126	Abnormal vitamin B12 level	81693	AMN	ORPHA:35858
HP:0040126	Abnormal vitamin B12 level	81693	AMN	OMIM:618882
HP:0040126	Abnormal vitamin B12 level	2917	GRM7	OMIM:618922
HP:0040126	Abnormal vitamin B12 level	55788	LMBRD1	ORPHA:79284
HP:0040126	Abnormal vitamin B12 level	6573	SLC19A1	OMIM:601775
HP:0040126	Abnormal vitamin B12 level	3117	HLA-DQA1	OMIM:212750
HP:0040126	Abnormal vitamin B12 level	3119	HLA-DQB1	OMIM:212750
HP:0040126	Abnormal vitamin B12 level	2984	GUCY2C	OMIM:614616
HP:0040126	Abnormal vitamin B12 level	215	ABCD1	ORPHA:139399
HP:0040126	Abnormal vitamin B12 level	2694	CBLIF	OMIM:261000
HP:0040127	Abnormal sweat homeostasis	2517	FUCA1	OMIM:230000
HP:0040127	Abnormal sweat homeostasis	6804	STX1A	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	2947	GSTM3	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	7040	TGFB1	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	7040	TGFB1	OMIM:219700
HP:0040127	Abnormal sweat homeostasis	2729	GCLC	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	1084	CEACAM3	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	6556	SLC11A1	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	51164	DCTN4	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	3783	KCNN4	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	4282	MIF	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	1909	EDNRA	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	6550	SLC9A3	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	3162	HMOX1	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	115019	SLC26A9	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	3077	HFE	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	11254	SLC6A14	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	5265	SERPINA1	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	1080	CFTR	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	1080	CFTR	OMIM:211400
HP:0040127	Abnormal sweat homeostasis	1080	CFTR	OMIM:219700
HP:0040127	Abnormal sweat homeostasis	22802	CLCA4	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	4680	CEACAM6	ORPHA:586
HP:0040127	Abnormal sweat homeostasis	5406	PNLIP	OMIM:614338
HP:0040127	Abnormal sweat homeostasis	6338	SCNN1B	OMIM:211400
HP:0040127	Abnormal sweat homeostasis	2212	FCGR2A	OMIM:219700
HP:0040127	Abnormal sweat homeostasis	10551	AGR2	OMIM:620233
HP:0040127	Abnormal sweat homeostasis	771	CA12	OMIM:143860
HP:0040127	Abnormal sweat homeostasis	6337	SCNN1A	OMIM:613021
HP:0040127	Abnormal sweat homeostasis	2984	GUCY2C	OMIM:614665
HP:0040127	Abnormal sweat homeostasis	152110	NEK10	OMIM:618781
HP:0040128	Abnormal sweat electrolytes	2984	GUCY2C	OMIM:614665
HP:0040128	Abnormal sweat electrolytes	152110	NEK10	OMIM:618781
HP:0040129	Abnormal nerve conduction velocity	2074	ERCC6	OMIM:133540
HP:0040129	Abnormal nerve conduction velocity	79784	MYH14	ORPHA:397744
HP:0040129	Abnormal nerve conduction velocity	9131	AIFM1	ORPHA:101078
HP:0040129	Abnormal nerve conduction velocity	410	ARSA	ORPHA:309256
HP:0040129	Abnormal nerve conduction velocity	410	ARSA	ORPHA:309271
HP:0040129	Abnormal nerve conduction velocity	410	ARSA	ORPHA:309263
HP:0040129	Abnormal nerve conduction velocity	410	ARSA	OMIM:250100
HP:0040129	Abnormal nerve conduction velocity	5660	PSAP	ORPHA:309256
HP:0040129	Abnormal nerve conduction velocity	5660	PSAP	OMIM:249900
HP:0040129	Abnormal nerve conduction velocity	5660	PSAP	ORPHA:309271
HP:0040129	Abnormal nerve conduction velocity	5660	PSAP	ORPHA:206436
HP:0040129	Abnormal nerve conduction velocity	5660	PSAP	ORPHA:309263
HP:0040129	Abnormal nerve conduction velocity	1593	CYP27A1	ORPHA:909
HP:0040129	Abnormal nerve conduction velocity	5190	PEX6	OMIM:614863
HP:0040129	Abnormal nerve conduction velocity	9782	MATR3	OMIM:606070
HP:0040129	Abnormal nerve conduction velocity	9782	MATR3	ORPHA:600
HP:0040129	Abnormal nerve conduction velocity	7167	TPI1	ORPHA:868
HP:0040129	Abnormal nerve conduction velocity	10516	FBLN5	OMIM:608895
HP:0040129	Abnormal nerve conduction velocity	5354	PLP1	ORPHA:280234
HP:0040129	Abnormal nerve conduction velocity	2581	GALC	ORPHA:206443
HP:0040129	Abnormal nerve conduction velocity	2581	GALC	ORPHA:206436
HP:0040129	Abnormal nerve conduction velocity	2581	GALC	OMIM:245200
HP:0040129	Abnormal nerve conduction velocity	6305	SBF1	OMIM:615284
HP:0040129	Abnormal nerve conduction velocity	23114	NFASC	OMIM:618356
HP:0040129	Abnormal nerve conduction velocity	25814	ATXN10	OMIM:603516
HP:0040129	Abnormal nerve conduction velocity	1785	DNM2	OMIM:615368
HP:0040129	Abnormal nerve conduction velocity	56947	MFF	ORPHA:485421
HP:0040129	Abnormal nerve conduction velocity	5165	PDK3	ORPHA:352675
HP:0040129	Abnormal nerve conduction velocity	1130	LYST	OMIM:214500
HP:0040129	Abnormal nerve conduction velocity	1130	LYST	ORPHA:167
HP:0040129	Abnormal nerve conduction velocity	4758	NEU1	ORPHA:812
HP:0040129	Abnormal nerve conduction velocity	3508	IGHMBP2	OMIM:604320
HP:0040129	Abnormal nerve conduction velocity	540	ATP7B	OMIM:277900
HP:0040129	Abnormal nerve conduction velocity	6663	SOX10	OMIM:609136
HP:0040129	Abnormal nerve conduction velocity	1161	ERCC8	OMIM:216400
HP:0040129	Abnormal nerve conduction velocity	10166	SLC25A15	OMIM:238970
HP:0040129	Abnormal nerve conduction velocity	87178	PNPT1	ORPHA:319514
HP:0040129	Abnormal nerve conduction velocity	87178	PNPT1	OMIM:614932
HP:0040129	Abnormal nerve conduction velocity	219285	SAMD9L	OMIM:159550
HP:0040129	Abnormal nerve conduction velocity	84340	GFM2	ORPHA:565624
HP:0040129	Abnormal nerve conduction velocity	3295	HSD17B4	OMIM:261515
HP:0040129	Abnormal nerve conduction velocity	9639	ARHGEF10	OMIM:608236
HP:0040129	Abnormal nerve conduction velocity	2200	FBN1	ORPHA:969
HP:0040129	Abnormal nerve conduction velocity	4054	LTBP3	ORPHA:969
HP:0040129	Abnormal nerve conduction velocity	8398	PLA2G6	OMIM:256600
HP:0040129	Abnormal nerve conduction velocity	26090	ABHD12	OMIM:612674
HP:0040129	Abnormal nerve conduction velocity	2071	ERCC3	OMIM:610651
HP:0040129	Abnormal nerve conduction velocity	3908	LAMA2	OMIM:618138
HP:0040129	Abnormal nerve conduction velocity	8449	DHX16	OMIM:618733
HP:0040129	Abnormal nerve conduction velocity	8803	SUCLA2	ORPHA:1933
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	OMIM:162500
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	OMIM:118300
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	OMIM:118220
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	OMIM:180800
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	ORPHA:640
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	ORPHA:3115
HP:0040129	Abnormal nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0040129	Abnormal nerve conduction velocity	4359	MPZ	OMIM:618184
HP:0040129	Abnormal nerve conduction velocity	4359	MPZ	OMIM:180800
HP:0040129	Abnormal nerve conduction velocity	4359	MPZ	OMIM:118200
HP:0040129	Abnormal nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0040129	Abnormal nerve conduction velocity	4359	MPZ	ORPHA:3115
HP:0040129	Abnormal nerve conduction velocity	4000	LMNA	OMIM:605588
HP:0040129	Abnormal nerve conduction velocity	4000	LMNA	ORPHA:98856
HP:0040129	Abnormal nerve conduction velocity	11284	PNKP	OMIM:605589
HP:0040129	Abnormal nerve conduction velocity	81857	MED25	OMIM:605589
HP:0040129	Abnormal nerve conduction velocity	7384	UQCRC1	OMIM:619279
HP:0040129	Abnormal nerve conduction velocity	8506	CNTNAP1	OMIM:618186
HP:0040129	Abnormal nerve conduction velocity	22948	CCT5	ORPHA:139578
HP:0040129	Abnormal nerve conduction velocity	22948	CCT5	OMIM:256840
HP:0040129	Abnormal nerve conduction velocity	22880	MORC2	OMIM:616688
HP:0040129	Abnormal nerve conduction velocity	7415	VCP	OMIM:616687
HP:0040129	Abnormal nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0040129	Abnormal nerve conduction velocity	9927	MFN2	OMIM:601152
HP:0040129	Abnormal nerve conduction velocity	50717	DCAF8	OMIM:610100
HP:0040129	Abnormal nerve conduction velocity	4747	NEFL	OMIM:607684
HP:0040129	Abnormal nerve conduction velocity	4747	NEFL	OMIM:607734
HP:0040129	Abnormal nerve conduction velocity	3315	HSPB1	OMIM:606595
HP:0040129	Abnormal nerve conduction velocity	9990	SLC12A6	OMIM:620068
HP:0040129	Abnormal nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0040129	Abnormal nerve conduction velocity	8898	MTMR2	OMIM:601382
HP:0040129	Abnormal nerve conduction velocity	7879	RAB7A	OMIM:600882
HP:0040129	Abnormal nerve conduction velocity	57165	GJC2	OMIM:608804
HP:0040129	Abnormal nerve conduction velocity	1959	EGR2	OMIM:607678
HP:0040129	Abnormal nerve conduction velocity	1959	EGR2	OMIM:605253
HP:0040129	Abnormal nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0040129	Abnormal nerve conduction velocity	9150	CTDP1	OMIM:604168
HP:0040129	Abnormal nerve conduction velocity	56704	JPH1	OMIM:607831
HP:0040129	Abnormal nerve conduction velocity	23095	KIF1B	OMIM:118210
HP:0040129	Abnormal nerve conduction velocity	6652	SORD	OMIM:618912
HP:0040129	Abnormal nerve conduction velocity	65055	REEP1	OMIM:614751
HP:0040129	Abnormal nerve conduction velocity	90678	LRSAM1	OMIM:614436
HP:0040129	Abnormal nerve conduction velocity	3710	ITPR3	OMIM:620111
HP:0040129	Abnormal nerve conduction velocity	81846	SBF2	OMIM:604563
HP:0040129	Abnormal nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0040129	Abnormal nerve conduction velocity	9516	LITAF	OMIM:601098
HP:0040129	Abnormal nerve conduction velocity	26278	SACS	OMIM:270550
HP:0040129	Abnormal nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0040129	Abnormal nerve conduction velocity	5428	POLG	ORPHA:298
HP:0040129	Abnormal nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0040129	Abnormal nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0040129	Abnormal nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0040129	Abnormal nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0040129	Abnormal nerve conduction velocity	10280	SIGMAR1	OMIM:605726
HP:0040129	Abnormal nerve conduction velocity	23250	ATP11A	OMIM:619851
HP:0040129	Abnormal nerve conduction velocity	23321	TRIM2	OMIM:615490
HP:0040129	Abnormal nerve conduction velocity	57449	PLEKHG5	OMIM:615376
HP:0040129	Abnormal nerve conduction velocity	81545	FBXO38	OMIM:615575
HP:0040129	Abnormal nerve conduction velocity	5631	PRPS1	ORPHA:1187
HP:0040129	Abnormal nerve conduction velocity	259232	NALCN	OMIM:615419
HP:0040129	Abnormal nerve conduction velocity	26580	BSCL2	OMIM:270685
HP:0040129	Abnormal nerve conduction velocity	79628	SH3TC2	OMIM:601596
HP:0040129	Abnormal nerve conduction velocity	79628	SH3TC2	ORPHA:99949
HP:0040129	Abnormal nerve conduction velocity	10397	NDRG1	ORPHA:99950
HP:0040129	Abnormal nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0040129	Abnormal nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0040129	Abnormal nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0040129	Abnormal nerve conduction velocity	2705	GJB1	OMIM:302800
HP:0040129	Abnormal nerve conduction velocity	9517	SPTLC2	OMIM:613640
HP:0040129	Abnormal nerve conduction velocity	57716	PRX	OMIM:614895
HP:0040129	Abnormal nerve conduction velocity	57716	PRX	OMIM:145900
HP:0040129	Abnormal nerve conduction velocity	16	AARS1	OMIM:613287
HP:0040129	Abnormal nerve conduction velocity	128637	TBC1D20	OMIM:615663
HP:0040129	Abnormal nerve conduction velocity	55775	TDP1	OMIM:607250
HP:0040129	Abnormal nerve conduction velocity	84668	HYCC1	OMIM:610532
HP:0040129	Abnormal nerve conduction velocity	23064	SETX	OMIM:606002
HP:0040129	Abnormal nerve conduction velocity	9896	FIG4	OMIM:611228
HP:0040129	Abnormal nerve conduction velocity	6342	SCP2	OMIM:613724
HP:0040129	Abnormal nerve conduction velocity	2395	FXN	ORPHA:95
HP:0040129	Abnormal nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0040129	Abnormal nerve conduction velocity	121512	FGD4	OMIM:609311
HP:0040129	Abnormal nerve conduction velocity	54463	RETREG1	OMIM:201300
HP:0040129	Abnormal nerve conduction velocity	65125	WNK1	OMIM:201300
HP:0040129	Abnormal nerve conduction velocity	547	KIF1A	OMIM:201300
HP:0040129	Abnormal nerve conduction velocity	55768	NGLY1	OMIM:615273
HP:0040129	Abnormal nerve conduction velocity	91574	MTRFR	ORPHA:320375
HP:0040129	Abnormal nerve conduction velocity	10730	YME1L1	OMIM:617302
HP:0040129	Abnormal nerve conduction velocity	54332	GDAP1	ORPHA:99948
HP:0040129	Abnormal nerve conduction velocity	3098	HK1	ORPHA:99953
HP:0040129	Abnormal nerve conduction velocity	3425	IDUA	ORPHA:93474
HP:0040129	Abnormal nerve conduction velocity	3425	IDUA	ORPHA:93473
HP:0040129	Abnormal nerve conduction velocity	3425	IDUA	ORPHA:93476
HP:0040129	Abnormal nerve conduction velocity	10935	PRDX3	OMIM:619862
HP:0040129	Abnormal nerve conduction velocity	6335	SCN9A	OMIM:243000
HP:0040129	Abnormal nerve conduction velocity	10743	RAI1	OMIM:182290
HP:0040129	Abnormal nerve conduction velocity	84466	MEGF10	OMIM:614399
HP:0040129	Abnormal nerve conduction velocity	60482	SLC5A7	OMIM:158580
HP:0040129	Abnormal nerve conduction velocity	2617	GARS1	ORPHA:139536
HP:0040129	Abnormal nerve conduction velocity	8560	DEGS1	OMIM:618404
HP:0040129	Abnormal nerve conduction velocity	400916	CHCHD10	ORPHA:276435
HP:0040129	Abnormal nerve conduction velocity	28982	FLVCR1	ORPHA:88628
HP:0004058	Hand monodactyly	55636	CHD7	OMIM:214800
HP:0004058	Hand monodactyly	727857	BHLHA9	ORPHA:1986
HP:0004060	Trident hand	2261	FGFR3	OMIM:146000
HP:0004060	Trident hand	2261	FGFR3	ORPHA:15
HP:0004060	Trident hand	2261	FGFR3	OMIM:100800
HP:0004060	Trident hand	25871	NEPRO	OMIM:618853
HP:0040130	Abnormal serum iron concentration	9493	KIF23	ORPHA:98870
HP:0040130	Abnormal serum iron concentration	29127	RACGAP1	ORPHA:98870
HP:0040130	Abnormal serum iron concentration	617	BCS1L	OMIM:603358
HP:0040130	Abnormal serum iron concentration	55240	STEAP3	ORPHA:300298
HP:0040130	Abnormal serum iron concentration	9652	SKIC3	OMIM:222470
HP:0040130	Abnormal serum iron concentration	4891	SLC11A2	OMIM:206100
HP:0040130	Abnormal serum iron concentration	57817	HAMP	OMIM:613313
HP:0040130	Abnormal serum iron concentration	148738	HJV	OMIM:602390
HP:0040130	Abnormal serum iron concentration	2495	FTH1	OMIM:615517
HP:0040130	Abnormal serum iron concentration	7036	TFR2	OMIM:604250
HP:0040130	Abnormal serum iron concentration	3077	HFE	OMIM:235200
HP:0040130	Abnormal serum iron concentration	650	BMP2	OMIM:235200
HP:0040130	Abnormal serum iron concentration	5313	PKLR	ORPHA:766
HP:0040130	Abnormal serum iron concentration	2512	FTL	OMIM:600886
HP:0040130	Abnormal serum iron concentration	2512	FTL	ORPHA:254704
HP:0040130	Abnormal serum iron concentration	64170	CARD9	OMIM:212050
HP:0040130	Abnormal serum iron concentration	1356	CP	OMIM:604290
HP:0040130	Abnormal serum iron concentration	1356	CP	ORPHA:48818
HP:0040130	Abnormal serum iron concentration	6499	SKIC2	OMIM:614602
HP:0040130	Abnormal serum iron concentration	51095	TRNT1	OMIM:616959
HP:0040130	Abnormal serum iron concentration	27086	FOXP1	ORPHA:391372
HP:0040130	Abnormal serum iron concentration	1294	COL7A1	ORPHA:89842
HP:0040130	Abnormal serum iron concentration	5277	PIGA	ORPHA:447
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	OMIM:162500
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	OMIM:118300
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	OMIM:118220
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	OMIM:180800
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	ORPHA:640
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	ORPHA:3115
HP:0040131	Abnormal motor nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0040131	Abnormal motor nerve conduction velocity	4359	MPZ	OMIM:618184
HP:0040131	Abnormal motor nerve conduction velocity	4359	MPZ	OMIM:180800
HP:0040131	Abnormal motor nerve conduction velocity	4359	MPZ	OMIM:118200
HP:0040131	Abnormal motor nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0040131	Abnormal motor nerve conduction velocity	4359	MPZ	ORPHA:3115
HP:0040131	Abnormal motor nerve conduction velocity	4000	LMNA	OMIM:605588
HP:0040131	Abnormal motor nerve conduction velocity	4000	LMNA	ORPHA:98856
HP:0040131	Abnormal motor nerve conduction velocity	11284	PNKP	OMIM:605589
HP:0040131	Abnormal motor nerve conduction velocity	81857	MED25	OMIM:605589
HP:0040131	Abnormal motor nerve conduction velocity	7384	UQCRC1	OMIM:619279
HP:0040131	Abnormal motor nerve conduction velocity	8506	CNTNAP1	OMIM:618186
HP:0040131	Abnormal motor nerve conduction velocity	22948	CCT5	ORPHA:139578
HP:0040131	Abnormal motor nerve conduction velocity	22948	CCT5	OMIM:256840
HP:0040131	Abnormal motor nerve conduction velocity	22880	MORC2	OMIM:616688
HP:0040131	Abnormal motor nerve conduction velocity	7415	VCP	OMIM:616687
HP:0040131	Abnormal motor nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0040131	Abnormal motor nerve conduction velocity	9927	MFN2	OMIM:601152
HP:0040131	Abnormal motor nerve conduction velocity	50717	DCAF8	OMIM:610100
HP:0040131	Abnormal motor nerve conduction velocity	4747	NEFL	OMIM:607684
HP:0040131	Abnormal motor nerve conduction velocity	4747	NEFL	OMIM:607734
HP:0040131	Abnormal motor nerve conduction velocity	3315	HSPB1	OMIM:606595
HP:0040131	Abnormal motor nerve conduction velocity	9990	SLC12A6	OMIM:620068
HP:0040131	Abnormal motor nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0040131	Abnormal motor nerve conduction velocity	8898	MTMR2	OMIM:601382
HP:0040131	Abnormal motor nerve conduction velocity	7879	RAB7A	OMIM:600882
HP:0040131	Abnormal motor nerve conduction velocity	57165	GJC2	OMIM:608804
HP:0040131	Abnormal motor nerve conduction velocity	1959	EGR2	OMIM:607678
HP:0040131	Abnormal motor nerve conduction velocity	1959	EGR2	OMIM:605253
HP:0040131	Abnormal motor nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0040131	Abnormal motor nerve conduction velocity	9150	CTDP1	OMIM:604168
HP:0040131	Abnormal motor nerve conduction velocity	56704	JPH1	OMIM:607831
HP:0040131	Abnormal motor nerve conduction velocity	23095	KIF1B	OMIM:118210
HP:0040131	Abnormal motor nerve conduction velocity	6652	SORD	OMIM:618912
HP:0040131	Abnormal motor nerve conduction velocity	65055	REEP1	OMIM:614751
HP:0040131	Abnormal motor nerve conduction velocity	90678	LRSAM1	OMIM:614436
HP:0040131	Abnormal motor nerve conduction velocity	3710	ITPR3	OMIM:620111
HP:0040131	Abnormal motor nerve conduction velocity	81846	SBF2	OMIM:604563
HP:0040131	Abnormal motor nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0040131	Abnormal motor nerve conduction velocity	9516	LITAF	OMIM:601098
HP:0040131	Abnormal motor nerve conduction velocity	26278	SACS	OMIM:270550
HP:0040131	Abnormal motor nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0040131	Abnormal motor nerve conduction velocity	5428	POLG	ORPHA:298
HP:0040131	Abnormal motor nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0040131	Abnormal motor nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0040131	Abnormal motor nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0040131	Abnormal motor nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0040131	Abnormal motor nerve conduction velocity	10280	SIGMAR1	OMIM:605726
HP:0040131	Abnormal motor nerve conduction velocity	23250	ATP11A	OMIM:619851
HP:0040131	Abnormal motor nerve conduction velocity	23321	TRIM2	OMIM:615490
HP:0040131	Abnormal motor nerve conduction velocity	57449	PLEKHG5	OMIM:615376
HP:0040131	Abnormal motor nerve conduction velocity	81545	FBXO38	OMIM:615575
HP:0040131	Abnormal motor nerve conduction velocity	5631	PRPS1	ORPHA:1187
HP:0040131	Abnormal motor nerve conduction velocity	259232	NALCN	OMIM:615419
HP:0040131	Abnormal motor nerve conduction velocity	26580	BSCL2	OMIM:270685
HP:0040131	Abnormal motor nerve conduction velocity	79628	SH3TC2	OMIM:601596
HP:0040131	Abnormal motor nerve conduction velocity	79628	SH3TC2	ORPHA:99949
HP:0040131	Abnormal motor nerve conduction velocity	10397	NDRG1	ORPHA:99950
HP:0040131	Abnormal motor nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0040131	Abnormal motor nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0040131	Abnormal motor nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0040131	Abnormal motor nerve conduction velocity	2705	GJB1	OMIM:302800
HP:0040131	Abnormal motor nerve conduction velocity	9517	SPTLC2	OMIM:613640
HP:0040131	Abnormal motor nerve conduction velocity	57716	PRX	OMIM:614895
HP:0040131	Abnormal motor nerve conduction velocity	57716	PRX	OMIM:145900
HP:0040131	Abnormal motor nerve conduction velocity	16	AARS1	OMIM:613287
HP:0040131	Abnormal motor nerve conduction velocity	128637	TBC1D20	OMIM:615663
HP:0040131	Abnormal motor nerve conduction velocity	55775	TDP1	OMIM:607250
HP:0040131	Abnormal motor nerve conduction velocity	84668	HYCC1	OMIM:610532
HP:0040131	Abnormal motor nerve conduction velocity	23064	SETX	OMIM:606002
HP:0040131	Abnormal motor nerve conduction velocity	9896	FIG4	OMIM:611228
HP:0040131	Abnormal motor nerve conduction velocity	6342	SCP2	OMIM:613724
HP:0040131	Abnormal motor nerve conduction velocity	2395	FXN	ORPHA:95
HP:0040131	Abnormal motor nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0040131	Abnormal motor nerve conduction velocity	121512	FGD4	OMIM:609311
HP:0040131	Abnormal motor nerve conduction velocity	54332	GDAP1	ORPHA:99948
HP:0040131	Abnormal motor nerve conduction velocity	3098	HK1	ORPHA:99953
HP:0040131	Abnormal motor nerve conduction velocity	84466	MEGF10	OMIM:614399
HP:0040131	Abnormal motor nerve conduction velocity	60482	SLC5A7	OMIM:158580
HP:0040131	Abnormal motor nerve conduction velocity	2617	GARS1	ORPHA:139536
HP:0040131	Abnormal motor nerve conduction velocity	8560	DEGS1	OMIM:618404
HP:0040132	Abnormal sensory nerve conduction velocity	5428	POLG	ORPHA:298
HP:0040132	Abnormal sensory nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0040132	Abnormal sensory nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0040132	Abnormal sensory nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0040132	Abnormal sensory nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0040132	Abnormal sensory nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0040132	Abnormal sensory nerve conduction velocity	54463	RETREG1	OMIM:201300
HP:0040132	Abnormal sensory nerve conduction velocity	65125	WNK1	OMIM:201300
HP:0040132	Abnormal sensory nerve conduction velocity	6335	SCN9A	OMIM:201300
HP:0040132	Abnormal sensory nerve conduction velocity	547	KIF1A	OMIM:201300
HP:0040132	Abnormal sensory nerve conduction velocity	55768	NGLY1	OMIM:615273
HP:0040132	Abnormal sensory nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0040132	Abnormal sensory nerve conduction velocity	91574	MTRFR	ORPHA:320375
HP:0040132	Abnormal sensory nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0040132	Abnormal sensory nerve conduction velocity	2395	FXN	OMIM:229300
HP:0040132	Abnormal sensory nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0040132	Abnormal sensory nerve conduction velocity	10730	YME1L1	OMIM:617302
HP:0040132	Abnormal sensory nerve conduction velocity	54332	GDAP1	OMIM:214400
HP:0040132	Abnormal sensory nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0040132	Abnormal sensory nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0040132	Abnormal sensory nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0040132	Abnormal sensory nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0040132	Abnormal sensory nerve conduction velocity	57716	PRX	OMIM:145900
HP:0040132	Abnormal sensory nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0040132	Abnormal sensory nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0040132	Abnormal sensory nerve conduction velocity	26278	SACS	OMIM:270550
HP:0040132	Abnormal sensory nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0040132	Abnormal sensory nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0040132	Abnormal sensory nerve conduction velocity	400916	CHCHD10	ORPHA:276435
HP:0040132	Abnormal sensory nerve conduction velocity	28982	FLVCR1	ORPHA:88628
HP:0040133	Abnormal circulating ferritin concentration	9056	SLC7A7	ORPHA:470
HP:0040133	Abnormal circulating ferritin concentration	9056	SLC7A7	OMIM:222700
HP:0040133	Abnormal circulating ferritin concentration	30061	SLC40A1	ORPHA:139491
HP:0040133	Abnormal circulating ferritin concentration	30061	SLC40A1	OMIM:606069
HP:0040133	Abnormal circulating ferritin concentration	55388	MCM10	OMIM:619313
HP:0040133	Abnormal circulating ferritin concentration	3702	ITK	OMIM:613011
HP:0040133	Abnormal circulating ferritin concentration	54914	FOCAD	OMIM:619991
HP:0040133	Abnormal circulating ferritin concentration	331	XIAP	OMIM:300635
HP:0040133	Abnormal circulating ferritin concentration	55240	STEAP3	OMIM:615234
HP:0040133	Abnormal circulating ferritin concentration	55240	STEAP3	ORPHA:300298
HP:0040133	Abnormal circulating ferritin concentration	1356	CP	OMIM:604290
HP:0040133	Abnormal circulating ferritin concentration	1356	CP	ORPHA:48818
HP:0040133	Abnormal circulating ferritin concentration	148738	HJV	OMIM:602390
HP:0040133	Abnormal circulating ferritin concentration	148738	HJV	ORPHA:79230
HP:0040133	Abnormal circulating ferritin concentration	2495	FTH1	OMIM:615517
HP:0040133	Abnormal circulating ferritin concentration	9780	PIEZO1	OMIM:194380
HP:0040133	Abnormal circulating ferritin concentration	9780	PIEZO1	ORPHA:3202
HP:0040133	Abnormal circulating ferritin concentration	7036	TFR2	OMIM:604250
HP:0040133	Abnormal circulating ferritin concentration	5551	PRF1	ORPHA:540
HP:0040133	Abnormal circulating ferritin concentration	5551	PRF1	OMIM:603553
HP:0040133	Abnormal circulating ferritin concentration	8676	STX11	ORPHA:540
HP:0040133	Abnormal circulating ferritin concentration	8676	STX11	OMIM:603552
HP:0040133	Abnormal circulating ferritin concentration	201294	UNC13D	ORPHA:540
HP:0040133	Abnormal circulating ferritin concentration	6813	STXBP2	ORPHA:540
HP:0040133	Abnormal circulating ferritin concentration	6813	STXBP2	OMIM:613101
HP:0040133	Abnormal circulating ferritin concentration	58484	NLRC4	OMIM:616050
HP:0040133	Abnormal circulating ferritin concentration	617	BCS1L	OMIM:603358
HP:0040133	Abnormal circulating ferritin concentration	617	BCS1L	ORPHA:53693
HP:0040133	Abnormal circulating ferritin concentration	6573	SLC19A1	OMIM:601775
HP:0040133	Abnormal circulating ferritin concentration	84868	HAVCR2	OMIM:618398
HP:0040133	Abnormal circulating ferritin concentration	3162	HMOX1	OMIM:614034
HP:0040133	Abnormal circulating ferritin concentration	54977	SLC25A38	OMIM:205950
HP:0040133	Abnormal circulating ferritin concentration	64135	IFIH1	OMIM:615846
HP:0040133	Abnormal circulating ferritin concentration	5294	PIK3CG	OMIM:619802
HP:0040133	Abnormal circulating ferritin concentration	79989	IFT56	OMIM:619534
HP:0040133	Abnormal circulating ferritin concentration	51218	GLRX5	OMIM:616860
HP:0040133	Abnormal circulating ferritin concentration	3458	IFNG	OMIM:618963
HP:0040133	Abnormal circulating ferritin concentration	6773	STAT2	OMIM:618886
HP:0040133	Abnormal circulating ferritin concentration	654	BMP6	ORPHA:465508
HP:0040133	Abnormal circulating ferritin concentration	654	BMP6	OMIM:620121
HP:0040133	Abnormal circulating ferritin concentration	3077	HFE	ORPHA:465508
HP:0040133	Abnormal circulating ferritin concentration	3077	HFE	OMIM:235200
HP:0040133	Abnormal circulating ferritin concentration	57817	HAMP	OMIM:613313
HP:0040133	Abnormal circulating ferritin concentration	57817	HAMP	ORPHA:79230
HP:0040133	Abnormal circulating ferritin concentration	6521	SLC4A1	ORPHA:3202
HP:0040133	Abnormal circulating ferritin concentration	3783	KCNN4	ORPHA:3202
HP:0040133	Abnormal circulating ferritin concentration	5313	PKLR	ORPHA:766
HP:0040133	Abnormal circulating ferritin concentration	1130	LYST	ORPHA:167
HP:0040133	Abnormal circulating ferritin concentration	80324	PUS1	OMIM:600462
HP:0040133	Abnormal circulating ferritin concentration	3043	HBB	ORPHA:231249
HP:0040133	Abnormal circulating ferritin concentration	1371	CPOX	OMIM:618892
HP:0040133	Abnormal circulating ferritin concentration	650	BMP2	OMIM:235200
HP:0040133	Abnormal circulating ferritin concentration	2512	FTL	OMIM:615604
HP:0040133	Abnormal circulating ferritin concentration	2512	FTL	OMIM:606159
HP:0040133	Abnormal circulating ferritin concentration	2512	FTL	ORPHA:157846
HP:0040133	Abnormal circulating ferritin concentration	2671	GFER	ORPHA:330054
HP:0040133	Abnormal circulating ferritin concentration	55532	SLC30A10	ORPHA:309854
HP:0040134	Abnormal hepatic iron concentration	3043	HBB	ORPHA:231222
HP:0040134	Abnormal hepatic iron concentration	55240	STEAP3	ORPHA:300298
HP:0040134	Abnormal hepatic iron concentration	55240	STEAP3	OMIM:615234
HP:0040134	Abnormal hepatic iron concentration	2512	FTL	ORPHA:254704
HP:0040134	Abnormal hepatic iron concentration	51218	GLRX5	OMIM:616860
HP:0040134	Abnormal hepatic iron concentration	5277	PIGA	OMIM:300868
HP:0040134	Abnormal hepatic iron concentration	54914	FOCAD	OMIM:619991
HP:0040134	Abnormal hepatic iron concentration	4891	SLC11A2	OMIM:206100
HP:0040134	Abnormal hepatic iron concentration	1356	CP	ORPHA:48818
HP:0040134	Abnormal hepatic iron concentration	2495	FTH1	OMIM:615517
HP:0040134	Abnormal hepatic iron concentration	10667	FARS2	OMIM:614946
HP:0040134	Abnormal hepatic iron concentration	617	BCS1L	ORPHA:53693
HP:0040134	Abnormal hepatic iron concentration	654	BMP6	OMIM:620121
HP:0040135	Abnormal transferrin saturation	55240	STEAP3	OMIM:615234
HP:0040135	Abnormal transferrin saturation	654	BMP6	ORPHA:465508
HP:0040135	Abnormal transferrin saturation	654	BMP6	OMIM:620121
HP:0040135	Abnormal transferrin saturation	3077	HFE	ORPHA:465508
HP:0040135	Abnormal transferrin saturation	57817	HAMP	OMIM:613313
HP:0040135	Abnormal transferrin saturation	57817	HAMP	ORPHA:79230
HP:0040135	Abnormal transferrin saturation	54977	SLC25A38	OMIM:205950
HP:0040135	Abnormal transferrin saturation	148738	HJV	ORPHA:79230
HP:0040135	Abnormal transferrin saturation	2495	FTH1	OMIM:615517
HP:0040135	Abnormal transferrin saturation	30061	SLC40A1	OMIM:606069
HP:0040135	Abnormal transferrin saturation	7036	TFR2	OMIM:604250
HP:0040135	Abnormal transferrin saturation	5313	PKLR	ORPHA:766
HP:0040135	Abnormal transferrin saturation	617	BCS1L	ORPHA:53693
HP:0040135	Abnormal transferrin saturation	2512	FTL	OMIM:600886
HP:0040135	Abnormal transferrin saturation	2512	FTL	ORPHA:254704
HP:0040135	Abnormal transferrin saturation	55532	SLC30A10	ORPHA:309854
HP:0040137	Comedonal acne	5950	RBP4	OMIM:615147
HP:0040139	Lipogranulomatosis	427	ASAH1	OMIM:228000
HP:0040140	Degeneration of the striatum	8622	PDE8B	OMIM:609161
HP:0040140	Degeneration of the striatum	3064	HTT	ORPHA:399
HP:0040140	Degeneration of the striatum	6515	SLC2A3	ORPHA:399
HP:0040140	Degeneration of the striatum	4287	ATXN3	ORPHA:276238
HP:0040140	Degeneration of the striatum	4287	ATXN3	ORPHA:276244
HP:0040140	Degeneration of the striatum	4287	ATXN3	ORPHA:276241
HP:0040140	Degeneration of the striatum	10535	RNASEH2A	ORPHA:51
HP:0040140	Degeneration of the striatum	84153	RNASEH2C	ORPHA:51
HP:0040140	Degeneration of the striatum	25939	SAMHD1	ORPHA:51
HP:0040140	Degeneration of the striatum	79621	RNASEH2B	ORPHA:51
HP:0040140	Degeneration of the striatum	103	ADAR	ORPHA:51
HP:0040140	Degeneration of the striatum	11277	TREX1	ORPHA:51
HP:0040140	Degeneration of the striatum	100147744	RNU7-1	ORPHA:51
HP:0040140	Degeneration of the striatum	134353	LSM11	ORPHA:51
HP:0040140	Degeneration of the striatum	64135	IFIH1	ORPHA:51
HP:0040142	Reduced 5-oxoprolinase level	26873	OPLAH	OMIM:260005
HP:0040144	L-2-hydroxyglutaric aciduria	6576	SLC25A1	OMIM:615182
HP:0040144	L-2-hydroxyglutaric aciduria	79944	L2HGDH	OMIM:236792
HP:0040145	Dicarboxylic acidemia	197322	ACSF3	ORPHA:289504
HP:0040145	Dicarboxylic acidemia	3418	IDH2	OMIM:613657
HP:0040145	Dicarboxylic acidemia	79944	L2HGDH	OMIM:236792
HP:0040146	D-2-hydroxyglutaric acidemia	3418	IDH2	OMIM:613657
HP:0040147	L-2-hydroxyglutaric acidemia	79944	L2HGDH	OMIM:236792
HP:0040148	Cortical myoclonus	27327	TNRC6A	OMIM:618074
HP:0040148	Cortical myoclonus	9693	RAPGEF2	OMIM:618075
HP:0040148	Cortical myoclonus	5238	PGM3	ORPHA:443811
HP:0040148	Cortical myoclonus	5238	PGM3	OMIM:615816
HP:0040148	Cortical myoclonus	2767	GNA11	ORPHA:428
HP:0040148	Cortical myoclonus	846	CASR	ORPHA:428
HP:0040149	Woolly scalp hair	3265	HRAS	ORPHA:79414
HP:0040154	Acne inversa	10525	HYOU1	OMIM:233600
HP:0040154	Acne inversa	126695	KDF1	OMIM:617337
HP:0040154	Acne inversa	10804	GJB6	ORPHA:477
HP:0040154	Acne inversa	2706	GJB2	ORPHA:477
HP:0040154	Acne inversa	3551	IKBKB	OMIM:618204
HP:0040154	Acne inversa	23385	NCSTN	OMIM:142690
HP:0040154	Acne inversa	55851	PSENEN	OMIM:613736
HP:0040154	Acne inversa	55851	PSENEN	ORPHA:79145
HP:0040154	Acne inversa	4210	MEFV	ORPHA:3243
HP:0040154	Acne inversa	4210	MEFV	OMIM:608068
HP:0040154	Acne inversa	56983	POGLUT1	ORPHA:79145
HP:0040154	Acne inversa	3852	KRT5	ORPHA:79145
HP:0040154	Acne inversa	23509	POFUT1	ORPHA:79145
HP:0040154	Acne inversa	5663	PSEN1	OMIM:613737
HP:0040155	Elevated urinary 3-hydroxybutyric acid	763	CA5A	OMIM:615751
HP:0040155	Elevated urinary 3-hydroxybutyric acid	34	ACADM	ORPHA:42
HP:0040155	Elevated urinary 3-hydroxybutyric acid	4329	ALDH6A1	OMIM:614105
HP:0040155	Elevated urinary 3-hydroxybutyric acid	5019	OXCT1	OMIM:245050
HP:0040156	Elevated urinary carboxylic acid	79783	SUGCT	ORPHA:35706
HP:0040156	Elevated urinary carboxylic acid	79783	SUGCT	OMIM:231690
HP:0040156	Elevated urinary carboxylic acid	2639	GCDH	ORPHA:25
HP:0040156	Elevated urinary carboxylic acid	2639	GCDH	OMIM:231670
HP:0040156	Elevated urinary carboxylic acid	728294	D2HGDH	OMIM:600721
HP:0040156	Elevated urinary carboxylic acid	3155	HMGCL	OMIM:246450
HP:0040156	Elevated urinary carboxylic acid	2108	ETFA	OMIM:231680
HP:0040156	Elevated urinary carboxylic acid	2109	ETFB	OMIM:231680
HP:0040156	Elevated urinary carboxylic acid	2110	ETFDH	OMIM:231680
HP:0040156	Elevated urinary carboxylic acid	6898	TAT	OMIM:276600
HP:0040156	Elevated urinary carboxylic acid	7019	TFAM	OMIM:617156
HP:0040156	Elevated urinary carboxylic acid	37	ACADVL	OMIM:201475
HP:0040156	Elevated urinary carboxylic acid	3033	HADH	OMIM:231530
HP:0040156	Elevated urinary carboxylic acid	3033	HADH	ORPHA:71212
HP:0040156	Elevated urinary carboxylic acid	1374	CPT1A	OMIM:255120
HP:0040156	Elevated urinary carboxylic acid	55065	SLC52A1	OMIM:615026
HP:0040156	Elevated urinary carboxylic acid	788	SLC25A20	OMIM:212138
HP:0040156	Elevated urinary carboxylic acid	788	SLC25A20	ORPHA:159
HP:0040156	Elevated urinary carboxylic acid	28976	ACAD9	OMIM:611126
HP:0040156	Elevated urinary carboxylic acid	28976	ACAD9	ORPHA:99901
HP:0040156	Elevated urinary carboxylic acid	5195	PEX14	OMIM:614887
HP:0040156	Elevated urinary carboxylic acid	27034	ACAD8	ORPHA:79159
HP:0040156	Elevated urinary carboxylic acid	6584	SLC22A5	OMIM:212140
HP:0040156	Elevated urinary carboxylic acid	23474	ETHE1	ORPHA:51188
HP:0040156	Elevated urinary carboxylic acid	23474	ETHE1	OMIM:602473
HP:0040156	Elevated urinary carboxylic acid	3329	HSPD1	OMIM:612233
HP:0040156	Elevated urinary carboxylic acid	5428	POLG	OMIM:203700
HP:0040156	Elevated urinary carboxylic acid	4724	NDUFS4	OMIM:252010
HP:0040156	Elevated urinary carboxylic acid	51241	COX16	OMIM:619355
HP:0040156	Elevated urinary carboxylic acid	55687	TRMU	OMIM:613070
HP:0040156	Elevated urinary carboxylic acid	1376	CPT2	OMIM:608836
HP:0040156	Elevated urinary carboxylic acid	34	ACADM	OMIM:201450
HP:0040156	Elevated urinary carboxylic acid	23095	KIF1B	OMIM:256700
HP:0040156	Elevated urinary carboxylic acid	6571	SLC18A2	OMIM:618049
HP:0040156	Elevated urinary carboxylic acid	5979	RET	OMIM:171400
HP:0040156	Elevated urinary carboxylic acid	197322	ACSF3	OMIM:614265
HP:0040156	Elevated urinary carboxylic acid	197322	ACSF3	ORPHA:289504
HP:0040156	Elevated urinary carboxylic acid	119559	SFXN4	OMIM:615578
HP:0040156	Elevated urinary carboxylic acid	25974	MMACHC	ORPHA:79282
HP:0040156	Elevated urinary carboxylic acid	25974	MMACHC	OMIM:277400
HP:0040156	Elevated urinary carboxylic acid	3054	HCFC1	OMIM:309541
HP:0040156	Elevated urinary carboxylic acid	6948	TCN2	OMIM:275350
HP:0040156	Elevated urinary carboxylic acid	6948	TCN2	ORPHA:859
HP:0040156	Elevated urinary carboxylic acid	55788	LMBRD1	ORPHA:79284
HP:0040156	Elevated urinary carboxylic acid	55788	LMBRD1	OMIM:277380
HP:0040156	Elevated urinary carboxylic acid	27249	MMADHC	OMIM:277410
HP:0040156	Elevated urinary carboxylic acid	4594	MMUT	OMIM:251000
HP:0040156	Elevated urinary carboxylic acid	84693	MCEE	OMIM:251120
HP:0040156	Elevated urinary carboxylic acid	4552	MTRR	OMIM:236270
HP:0040156	Elevated urinary carboxylic acid	8802	SUCLG1	OMIM:245400
HP:0040156	Elevated urinary carboxylic acid	8802	SUCLG1	ORPHA:17
HP:0040156	Elevated urinary carboxylic acid	8803	SUCLA2	OMIM:612073
HP:0040156	Elevated urinary carboxylic acid	8803	SUCLA2	ORPHA:1933
HP:0040156	Elevated urinary carboxylic acid	51293	CD320	OMIM:613646
HP:0040156	Elevated urinary carboxylic acid	5826	ABCD4	OMIM:614857
HP:0040156	Elevated urinary carboxylic acid	4548	MTR	OMIM:250940
HP:0040156	Elevated urinary carboxylic acid	326625	MMAB	OMIM:251110
HP:0040156	Elevated urinary carboxylic acid	5052	PRDX1	OMIM:277400
HP:0040156	Elevated urinary carboxylic acid	5498	PPOX	OMIM:176200
HP:0040156	Elevated urinary carboxylic acid	5498	PPOX	ORPHA:79473
HP:0040156	Elevated urinary carboxylic acid	3077	HFE	OMIM:176200
HP:0040156	Elevated urinary carboxylic acid	1371	CPOX	ORPHA:79273
HP:0040156	Elevated urinary carboxylic acid	1371	CPOX	OMIM:121300
HP:0040156	Elevated urinary carboxylic acid	1371	CPOX	OMIM:618892
HP:0040156	Elevated urinary carboxylic acid	210	ALAD	ORPHA:100924
HP:0040156	Elevated urinary carboxylic acid	3145	HMBS	ORPHA:79276
HP:0040156	Elevated urinary carboxylic acid	7390	UROS	ORPHA:79277
HP:0040156	Elevated urinary carboxylic acid	2623	GATA1	ORPHA:79277
HP:0040156	Elevated urinary carboxylic acid	131669	UROC1	OMIM:276880
HP:0040156	Elevated urinary carboxylic acid	131669	UROC1	ORPHA:210128
HP:0040156	Elevated urinary carboxylic acid	3418	IDH2	OMIM:613657
HP:0040156	Elevated urinary carboxylic acid	3417	IDH1	ORPHA:99646
HP:0040156	Elevated urinary carboxylic acid	54914	FOCAD	OMIM:619991
HP:0040156	Elevated urinary carboxylic acid	4716	NDUFB10	OMIM:619003
HP:0040156	Elevated urinary carboxylic acid	7915	ALDH5A1	OMIM:271980
HP:0040156	Elevated urinary carboxylic acid	4598	MVK	OMIM:260920
HP:0040156	Elevated urinary carboxylic acid	4598	MVK	OMIM:610377
HP:0040156	Elevated urinary carboxylic acid	2271	FH	OMIM:606812
HP:0040156	Elevated urinary carboxylic acid	6341	SCO1	OMIM:619048
HP:0040156	Elevated urinary carboxylic acid	6576	SLC25A1	OMIM:615182
HP:0040156	Elevated urinary carboxylic acid	64849	SLC13A3	OMIM:618384
HP:0040156	Elevated urinary carboxylic acid	763	CA5A	OMIM:615751
HP:0040156	Elevated urinary carboxylic acid	23417	MLYCD	OMIM:248360
HP:0040156	Elevated urinary carboxylic acid	36	ACADSB	OMIM:610006
HP:0040156	Elevated urinary carboxylic acid	3141	HLCS	OMIM:253270
HP:0040156	Elevated urinary carboxylic acid	56922	MCCC1	OMIM:210200
HP:0040156	Elevated urinary carboxylic acid	3081	HGD	OMIM:203500
HP:0040156	Elevated urinary carboxylic acid	3242	HPD	OMIM:140350
HP:0040156	Elevated urinary carboxylic acid	5053	PAH	OMIM:261600
HP:0040156	Elevated urinary carboxylic acid	55526	DHTKD1	OMIM:204750
HP:0040156	Elevated urinary carboxylic acid	166785	MMAA	OMIM:251100
HP:0040156	Elevated urinary carboxylic acid	10841	FTCD	OMIM:229100
HP:0040156	Elevated urinary carboxylic acid	79944	L2HGDH	OMIM:236792
HP:0040156	Elevated urinary carboxylic acid	4329	ALDH6A1	OMIM:614105
HP:0040156	Elevated urinary carboxylic acid	5019	OXCT1	OMIM:245050
HP:0040156	Elevated urinary carboxylic acid	35	ACADS	ORPHA:26792
HP:0040156	Elevated urinary carboxylic acid	27247	NFU1	OMIM:605711
HP:0040156	Elevated urinary carboxylic acid	3954	LETM1	OMIM:620089
HP:0040157	Abnormal intermamillary distance	3480	IGF1R	ORPHA:73273
HP:0040157	Abnormal intermamillary distance	3480	IGF1R	OMIM:270450
HP:0040157	Abnormal intermamillary distance	9949	AMMECR1	OMIM:300990
HP:0040157	Abnormal intermamillary distance	2260	FGFR1	ORPHA:432
HP:0040157	Abnormal intermamillary distance	81848	SPRY4	ORPHA:432
HP:0040157	Abnormal intermamillary distance	128674	PROKR2	ORPHA:432
HP:0040157	Abnormal intermamillary distance	2253	FGF8	ORPHA:432
HP:0040157	Abnormal intermamillary distance	60675	PROK2	ORPHA:432
HP:0040157	Abnormal intermamillary distance	55636	CHD7	ORPHA:432
HP:0040157	Abnormal intermamillary distance	6870	TACR3	ORPHA:432
HP:0040157	Abnormal intermamillary distance	1848	DUSP6	ORPHA:432
HP:0040157	Abnormal intermamillary distance	26012	NSMF	ORPHA:432
HP:0040157	Abnormal intermamillary distance	55717	WDR11	ORPHA:432
HP:0040157	Abnormal intermamillary distance	9394	HS6ST1	ORPHA:432
HP:0040157	Abnormal intermamillary distance	2796	GNRH1	ORPHA:432
HP:0040157	Abnormal intermamillary distance	2798	GNRHR	ORPHA:432
HP:0040157	Abnormal intermamillary distance	84634	KISS1R	ORPHA:432
HP:0040157	Abnormal intermamillary distance	6866	TAC3	ORPHA:432
HP:0040157	Abnormal intermamillary distance	8822	FGF17	ORPHA:432
HP:0040157	Abnormal intermamillary distance	3814	KISS1	ORPHA:432
HP:0040157	Abnormal intermamillary distance	55906	ZC4H2	OMIM:301041
HP:0040157	Abnormal intermamillary distance	23394	ADNP	ORPHA:404448
HP:0040157	Abnormal intermamillary distance	199857	ALG14	OMIM:619036
HP:0040157	Abnormal intermamillary distance	341640	FREM2	ORPHA:2052
HP:0040157	Abnormal intermamillary distance	80144	FRAS1	ORPHA:2052
HP:0040157	Abnormal intermamillary distance	80144	FRAS1	OMIM:219000
HP:0040157	Abnormal intermamillary distance	23426	GRIP1	ORPHA:2052
HP:0040157	Abnormal intermamillary distance	26128	KIFBP	OMIM:609460
HP:0040157	Abnormal intermamillary distance	23556	PIGN	ORPHA:2059
HP:0040157	Abnormal intermamillary distance	9759	HDAC4	ORPHA:1001
HP:0040157	Abnormal intermamillary distance	55627	SMPD4	OMIM:618622
HP:0040157	Abnormal intermamillary distance	145173	B3GLCT	ORPHA:709
HP:0040157	Abnormal intermamillary distance	145173	B3GLCT	OMIM:261540
HP:0040157	Abnormal intermamillary distance	79796	ALG9	OMIM:608776
HP:0040157	Abnormal intermamillary distance	79848	CSPP1	ORPHA:397715
HP:0040157	Abnormal intermamillary distance	9786	KIAA0586	ORPHA:397715
HP:0040157	Abnormal intermamillary distance	7707	ZNF148	OMIM:617260
HP:0040157	Abnormal intermamillary distance	1349	COX7B	OMIM:300887
HP:0040157	Abnormal intermamillary distance	10300	KATNB1	OMIM:616212
HP:0040157	Abnormal intermamillary distance	22858	CILK1	OMIM:612651
HP:0040157	Abnormal intermamillary distance	55690	PACS1	OMIM:615009
HP:0040157	Abnormal intermamillary distance	55690	PACS1	ORPHA:329224
HP:0040157	Abnormal intermamillary distance	4081	MAB21L1	OMIM:618479
HP:0040157	Abnormal intermamillary distance	10982	MAPRE2	OMIM:616734
HP:0040157	Abnormal intermamillary distance	1717	DHCR7	ORPHA:818
HP:0040157	Abnormal intermamillary distance	5818	NECTIN1	ORPHA:3253
HP:0040157	Abnormal intermamillary distance	55780	ERMARD	ORPHA:75857
HP:0040157	Abnormal intermamillary distance	8626	TP63	OMIM:103285
HP:0040157	Abnormal intermamillary distance	79158	GNPTAB	OMIM:252500
HP:0040157	Abnormal intermamillary distance	9382	COG1	OMIM:611209
HP:0040157	Abnormal intermamillary distance	3417	IDH1	ORPHA:99646
HP:0040157	Abnormal intermamillary distance	3190	HNRNPK	OMIM:616580
HP:0040157	Abnormal intermamillary distance	55870	ASH1L	OMIM:617796
HP:0040157	Abnormal intermamillary distance	7468	NSD2	OMIM:619695
HP:0040157	Abnormal intermamillary distance	9469	CHST3	OMIM:143095
HP:0040157	Abnormal intermamillary distance	23511	NUP188	OMIM:618804
HP:0040157	Abnormal intermamillary distance	1009	CDH11	OMIM:211380
HP:0040157	Abnormal intermamillary distance	2626	GATA4	ORPHA:251071
HP:0040157	Abnormal intermamillary distance	7020	TFAP2A	OMIM:113620
HP:0040157	Abnormal intermamillary distance	23116	TOGARAM1	OMIM:619185
HP:0040157	Abnormal intermamillary distance	7319	UBE2A	OMIM:300860
HP:0040157	Abnormal intermamillary distance	7319	UBE2A	ORPHA:163956
HP:0040157	Abnormal intermamillary distance	10087	CERT1	OMIM:616351
HP:0040157	Abnormal intermamillary distance	8726	EED	OMIM:617561
HP:0040157	Abnormal intermamillary distance	22884	WDR37	OMIM:618652
HP:0040157	Abnormal intermamillary distance	372	ARCN1	OMIM:617164
HP:0040157	Abnormal intermamillary distance	1954	MEGF8	OMIM:614976
HP:0040157	Abnormal intermamillary distance	2783	GNB2	OMIM:619503
HP:0040157	Abnormal intermamillary distance	3930	LBR	OMIM:618019
HP:0040157	Abnormal intermamillary distance	5826	ABCD4	OMIM:614857
HP:0040157	Abnormal intermamillary distance	4247	MGAT2	OMIM:212066
HP:0040157	Abnormal intermamillary distance	4763	NF1	ORPHA:97685
HP:0040157	Abnormal intermamillary distance	79718	TBL1XR1	ORPHA:487825
HP:0040157	Abnormal intermamillary distance	79718	TBL1XR1	OMIM:602342
HP:0040157	Abnormal intermamillary distance	2074	ERCC6	OMIM:214150
HP:0040157	Abnormal intermamillary distance	6611	SMS	ORPHA:3063
HP:0040157	Abnormal intermamillary distance	6611	SMS	OMIM:309583
HP:0040157	Abnormal intermamillary distance	22931	RAB18	OMIM:614222
HP:0040157	Abnormal intermamillary distance	92609	TIMM50	OMIM:617698
HP:0040157	Abnormal intermamillary distance	54499	TMCO1	OMIM:213980
HP:0040157	Abnormal intermamillary distance	5293	PIK3CD	ORPHA:221139
HP:0040157	Abnormal intermamillary distance	90417	KNSTRN	ORPHA:221139
HP:0040157	Abnormal intermamillary distance	8936	WASF1	OMIM:618707
HP:0040157	Abnormal intermamillary distance	6595	SMARCA2	ORPHA:3051
HP:0040157	Abnormal intermamillary distance	203068	TUBB	OMIM:156610
HP:0040157	Abnormal intermamillary distance	8567	MADD	OMIM:619004
HP:0040157	Abnormal intermamillary distance	91875	TTC5	OMIM:619244
HP:0040157	Abnormal intermamillary distance	5500	PPP1CB	OMIM:617506
HP:0040157	Abnormal intermamillary distance	9772	TMEM94	OMIM:618316
HP:0040157	Abnormal intermamillary distance	79971	WLS	OMIM:619648
HP:0040157	Abnormal intermamillary distance	388015	RTL1	ORPHA:96334
HP:0040157	Abnormal intermamillary distance	8788	DLK1	ORPHA:96334
HP:0040157	Abnormal intermamillary distance	55384	MEG3	ORPHA:96334
HP:0040157	Abnormal intermamillary distance	673	BRAF	OMIM:613707
HP:0040157	Abnormal intermamillary distance	673	BRAF	OMIM:163950
HP:0040157	Abnormal intermamillary distance	3911	LAMA5	OMIM:620076
HP:0040157	Abnormal intermamillary distance	139285	AMER1	OMIM:300373
HP:0040157	Abnormal intermamillary distance	1376	CPT2	OMIM:608836
HP:0040157	Abnormal intermamillary distance	84231	TRAF7	OMIM:618164
HP:0040157	Abnormal intermamillary distance	200205	IBA57	OMIM:615330
HP:0040157	Abnormal intermamillary distance	7994	KAT6A	OMIM:616268
HP:0040157	Abnormal intermamillary distance	284058	KANSL1	OMIM:610443
HP:0040157	Abnormal intermamillary distance	22800	RRAS2	ORPHA:648
HP:0040157	Abnormal intermamillary distance	867	CBL	ORPHA:648
HP:0040157	Abnormal intermamillary distance	867	CBL	OMIM:613563
HP:0040157	Abnormal intermamillary distance	8216	LZTR1	ORPHA:648
HP:0040157	Abnormal intermamillary distance	8216	LZTR1	OMIM:605275
HP:0040157	Abnormal intermamillary distance	6016	RIT1	ORPHA:648
HP:0040157	Abnormal intermamillary distance	6237	RRAS	ORPHA:648
HP:0040157	Abnormal intermamillary distance	5894	RAF1	ORPHA:648
HP:0040157	Abnormal intermamillary distance	22808	MRAS	ORPHA:648
HP:0040157	Abnormal intermamillary distance	3845	KRAS	ORPHA:648
HP:0040157	Abnormal intermamillary distance	200734	SPRED2	ORPHA:648
HP:0040157	Abnormal intermamillary distance	4893	NRAS	ORPHA:648
HP:0040157	Abnormal intermamillary distance	6654	SOS1	ORPHA:648
HP:0040157	Abnormal intermamillary distance	6654	SOS1	OMIM:610733
HP:0040157	Abnormal intermamillary distance	6655	SOS2	ORPHA:648
HP:0040157	Abnormal intermamillary distance	5781	PTPN11	ORPHA:648
HP:0040157	Abnormal intermamillary distance	5781	PTPN11	OMIM:163950
HP:0040157	Abnormal intermamillary distance	5922	RASA2	ORPHA:648
HP:0040157	Abnormal intermamillary distance	171023	ASXL1	OMIM:605039
HP:0040157	Abnormal intermamillary distance	8621	CDK13	OMIM:617360
HP:0040157	Abnormal intermamillary distance	54101	RIPK4	OMIM:263650
HP:0040157	Abnormal intermamillary distance	9181	ARHGEF2	OMIM:617523
HP:0040157	Abnormal intermamillary distance	29968	PSAT1	OMIM:616038
HP:0040157	Abnormal intermamillary distance	6736	SRY	ORPHA:1772
HP:0040157	Abnormal intermamillary distance	27152	INTU	OMIM:617925
HP:0040157	Abnormal intermamillary distance	2719	GPC3	OMIM:312870
HP:0040157	Abnormal intermamillary distance	2239	GPC4	OMIM:312870
HP:0040157	Abnormal intermamillary distance	55770	EXOC2	OMIM:619306
HP:0040157	Abnormal intermamillary distance	5604	MAP2K1	OMIM:163950
HP:0040159	Abnormal spaced incisors	257	ALX3	OMIM:136760
HP:0040159	Abnormal spaced incisors	6045	RNF2	OMIM:619460
HP:0040159	Abnormal spaced incisors	57459	GATAD2B	ORPHA:363686
HP:0040159	Abnormal spaced incisors	29123	ANKRD11	OMIM:148050
HP:0040159	Abnormal spaced incisors	29123	ANKRD11	ORPHA:2332
HP:0040159	Abnormal spaced incisors	546	ATRX	OMIM:309580
HP:0040159	Abnormal spaced incisors	546	ATRX	OMIM:301040
HP:0040159	Abnormal spaced incisors	10274	STAG1	ORPHA:502434
HP:0040159	Abnormal spaced incisors	1788	DNMT3A	ORPHA:404443
HP:0040159	Abnormal spaced incisors	158326	FREM1	OMIM:608980
HP:0040159	Abnormal spaced incisors	10060	ABCC9	OMIM:619719
HP:0040159	Abnormal spaced incisors	3265	HRAS	ORPHA:79414
HP:0040159	Abnormal spaced incisors	10844	TUBGCP2	OMIM:618737
HP:0040159	Abnormal spaced incisors	3149	HMGB3	OMIM:300915
HP:0040159	Abnormal spaced incisors	85440	DOCK7	ORPHA:411986
HP:0040159	Abnormal spaced incisors	22856	CHSY1	ORPHA:363417
HP:0004095	Curved fingers	8239	USP9X	ORPHA:480880
HP:0040161	Localized osteoporosis	29893	PSMC3IP	ORPHA:243
HP:0040161	Localized osteoporosis	171568	POLR3H	ORPHA:243
HP:0040161	Localized osteoporosis	2516	NR5A1	ORPHA:243
HP:0040161	Localized osteoporosis	125150	ZSWIM7	ORPHA:243
HP:0040161	Localized osteoporosis	9210	BMP15	ORPHA:243
HP:0040161	Localized osteoporosis	57122	NUP107	ORPHA:243
HP:0040161	Localized osteoporosis	23514	SPIDR	ORPHA:243
HP:0040161	Localized osteoporosis	2492	FSHR	ORPHA:243
HP:0040161	Localized osteoporosis	56945	MRPS22	ORPHA:243
HP:0040161	Localized osteoporosis	646	BNC1	ORPHA:243
HP:0040161	Localized osteoporosis	5626	PROP1	ORPHA:95494
HP:0040161	Localized osteoporosis	5626	PROP1	ORPHA:90695
HP:0040161	Localized osteoporosis	2736	GLI2	ORPHA:95494
HP:0040161	Localized osteoporosis	89884	LHX4	ORPHA:95494
HP:0040161	Localized osteoporosis	3170	FOXA2	ORPHA:95494
HP:0040161	Localized osteoporosis	5449	POU1F1	ORPHA:95494
HP:0040161	Localized osteoporosis	8820	HESX1	ORPHA:95494
HP:0040161	Localized osteoporosis	5015	OTX2	ORPHA:95494
HP:0040161	Localized osteoporosis	860	RUNX2	OMIM:156510
HP:0040161	Localized osteoporosis	6658	SOX3	ORPHA:90695
HP:0040161	Localized osteoporosis	5654	HTRA1	ORPHA:199354
HP:0040161	Localized osteoporosis	6399	TRAPPC2	ORPHA:93284
HP:0040162	Orthokeratosis	126410	CYP4F22	OMIM:604777
HP:0040162	Orthokeratosis	4014	LORICRIN	OMIM:604117
HP:0040162	Orthokeratosis	4014	LORICRIN	ORPHA:79395
HP:0040162	Orthokeratosis	9076	CLDN1	OMIM:607626
HP:0040162	Orthokeratosis	388698	FLG2	OMIM:618084
HP:0040162	Orthokeratosis	1475	CSTA	OMIM:607936
HP:0040162	Orthokeratosis	3858	KRT10	OMIM:607602
HP:0040162	Orthokeratosis	348938	NIPAL4	OMIM:612281
HP:0040162	Orthokeratosis	204219	CERS3	OMIM:615023
HP:0040162	Orthokeratosis	162514	TRPV3	OMIM:614594
HP:0040162	Orthokeratosis	2697	GJA1	OMIM:617525
HP:0040162	Orthokeratosis	5167	ENPP1	OMIM:615522
HP:0040162	Orthokeratosis	50814	NSDHL	OMIM:308050
HP:0040162	Orthokeratosis	126695	KDF1	OMIM:617337
HP:0040162	Orthokeratosis	79092	CARD14	OMIM:173200
HP:0040162	Orthokeratosis	643418	LIPN	OMIM:613943
HP:0040162	Orthokeratosis	3848	KRT1	OMIM:620148
HP:0040162	Orthokeratosis	1828	DSG1	OMIM:615508
HP:0040162	Orthokeratosis	80326	WNT10A	OMIM:257980
HP:0040162	Orthokeratosis	79719	AAGAB	OMIM:148600
HP:0040162	Orthokeratosis	79719	AAGAB	ORPHA:79501
HP:0040162	Orthokeratosis	7373	COL14A1	ORPHA:79501
HP:0040163	Abnormal pelvis bone morphology	59341	TRPV4	ORPHA:2635
HP:0040163	Abnormal pelvis bone morphology	59341	TRPV4	OMIM:156530
HP:0040163	Abnormal pelvis bone morphology	59341	TRPV4	OMIM:184252
HP:0040163	Abnormal pelvis bone morphology	5745	PTH1R	ORPHA:79106
HP:0040163	Abnormal pelvis bone morphology	5745	PTH1R	OMIM:600002
HP:0040163	Abnormal pelvis bone morphology	633	BGN	OMIM:300106
HP:0040163	Abnormal pelvis bone morphology	89970	RSPRY1	ORPHA:457395
HP:0040163	Abnormal pelvis bone morphology	89970	RSPRY1	OMIM:616723
HP:0040163	Abnormal pelvis bone morphology	5447	POR	OMIM:207410
HP:0040163	Abnormal pelvis bone morphology	5447	POR	ORPHA:95699
HP:0040163	Abnormal pelvis bone morphology	2263	FGFR2	OMIM:207410
HP:0040163	Abnormal pelvis bone morphology	5116	PCNT	ORPHA:2637
HP:0040163	Abnormal pelvis bone morphology	5116	PCNT	OMIM:210720
HP:0040163	Abnormal pelvis bone morphology	168667	BMPER	ORPHA:66637
HP:0040163	Abnormal pelvis bone morphology	168667	BMPER	OMIM:608022
HP:0040163	Abnormal pelvis bone morphology	3425	IDUA	ORPHA:93473
HP:0040163	Abnormal pelvis bone morphology	2131	EXT1	OMIM:133700
HP:0040163	Abnormal pelvis bone morphology	538	ATP7A	OMIM:304150
HP:0040163	Abnormal pelvis bone morphology	2132	EXT2	OMIM:133701
HP:0040163	Abnormal pelvis bone morphology	2074	ERCC6	OMIM:133540
HP:0040163	Abnormal pelvis bone morphology	9321	TRIP11	ORPHA:166272
HP:0040163	Abnormal pelvis bone morphology	1161	ERCC8	OMIM:216400
HP:0040163	Abnormal pelvis bone morphology	145173	B3GLCT	OMIM:261540
HP:0040163	Abnormal pelvis bone morphology	9896	FIG4	ORPHA:3472
HP:0040163	Abnormal pelvis bone morphology	55697	VAC14	ORPHA:3472
HP:0040163	Abnormal pelvis bone morphology	51360	MBTPS2	ORPHA:2273
HP:0040163	Abnormal pelvis bone morphology	23592	LEMD3	ORPHA:166119
HP:0040163	Abnormal pelvis bone morphology	1302	COL11A2	ORPHA:1427
HP:0040163	Abnormal pelvis bone morphology	54808	DYM	ORPHA:239
HP:0040165	Periostitis	3557	IL1RN	OMIM:612852
HP:0030313	Abnormal periosteum morphology	9365	KL	OMIM:617994
HP:0030313	Abnormal periosteum morphology	2263	FGFR2	ORPHA:313855
HP:0030313	Abnormal periosteum morphology	6578	SLCO2A1	OMIM:614441
HP:0030313	Abnormal periosteum morphology	2591	GALNT3	OMIM:211900
HP:0030313	Abnormal periosteum morphology	1277	COL1A1	OMIM:114000
HP:0030313	Abnormal periosteum morphology	55503	TRPV6	OMIM:618188
HP:0030313	Abnormal periosteum morphology	56975	FAM20C	OMIM:259775
HP:0030313	Abnormal periosteum morphology	3557	IL1RN	OMIM:612852
HP:0040167	Facial papilloma	7174	TPP2	OMIM:619220
HP:0040169	Loose anagen hair	8036	SHOC2	OMIM:607721
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:613089
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:612918
HP:0004099	Macrodactyly	5290	PIK3CA	ORPHA:276280
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:155500
HP:0004099	Macrodactyly	83550	GPR101	ORPHA:963
HP:0004099	Macrodactyly	9049	AIP	ORPHA:963
HP:0004099	Macrodactyly	5728	PTEN	ORPHA:744
HP:0004099	Macrodactyly	207	AKT1	ORPHA:744
HP:0040170	Abnormality of hair growth	128178	EDARADD	OMIM:129490
HP:0040170	Abnormality of hair growth	10913	EDAR	OMIM:129490
HP:0040170	Abnormality of hair growth	147409	DSG4	ORPHA:573
HP:0040170	Abnormality of hair growth	3892	KRT86	ORPHA:573
HP:0040170	Abnormality of hair growth	3889	KRT83	ORPHA:573
HP:0040170	Abnormality of hair growth	3887	KRT81	ORPHA:573
HP:0040170	Abnormality of hair growth	112802	KRT71	ORPHA:170
HP:0040170	Abnormality of hair growth	200879	LIPH	ORPHA:170
HP:0040170	Abnormality of hair growth	10161	LPAR6	ORPHA:170
HP:0040170	Abnormality of hair growth	147183	KRT25	ORPHA:170
HP:0040170	Abnormality of hair growth	7737	RNF113A	OMIM:300953
HP:0040170	Abnormality of hair growth	6144	RPL21	OMIM:615885
HP:0040170	Abnormality of hair growth	8626	TP63	ORPHA:1896
HP:0040170	Abnormality of hair growth	8626	TP63	OMIM:129400
HP:0040170	Abnormality of hair growth	7227	TRPS1	OMIM:190350
HP:0040170	Abnormality of hair growth	673	BRAF	OMIM:115150
HP:0040170	Abnormality of hair growth	673	BRAF	ORPHA:1340
HP:0040170	Abnormality of hair growth	5500	PPP1CB	OMIM:617506
HP:0040170	Abnormality of hair growth	1474	CST6	OMIM:618535
HP:0040170	Abnormality of hair growth	7025	NR2F1	OMIM:615722
HP:0040170	Abnormality of hair growth	5604	MAP2K1	ORPHA:1340
HP:0040170	Abnormality of hair growth	5605	MAP2K2	ORPHA:1340
HP:0040170	Abnormality of hair growth	3845	KRAS	ORPHA:1340
HP:0040170	Abnormality of hair growth	2961	GTF2E2	OMIM:616943
HP:0040170	Abnormality of hair growth	2697	GJA1	OMIM:164200
HP:0040170	Abnormality of hair growth	2697	GJA1	ORPHA:2710
HP:0040170	Abnormality of hair growth	55764	IFT122	OMIM:218330
HP:0040170	Abnormality of hair growth	10804	GJB6	OMIM:129500
HP:0040170	Abnormality of hair growth	8036	SHOC2	OMIM:607721
HP:0040170	Abnormality of hair growth	1041	CDSN	ORPHA:90368
HP:0040170	Abnormality of hair growth	121391	KRT74	ORPHA:90368
HP:0040170	Abnormality of hair growth	6868	ADAM17	ORPHA:294023
HP:0040170	Abnormality of hair growth	1956	EGFR	ORPHA:294023
HP:0040172	Abnormality of occipitofrontalis muscle	60482	SLC5A7	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	4649	MYO9A	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	1305	COL13A1	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	1103	CHAT	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	6576	SLC25A1	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	6843	VAMP1	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	375790	AGRN	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	127833	SYT2	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	6572	SLC18A3	ORPHA:98914
HP:0040172	Abnormality of occipitofrontalis muscle	6616	SNAP25	ORPHA:98914
HP:0040173	Abnormality of the tongue muscle	29925	GMPPB	ORPHA:370968
HP:0040173	Abnormality of the tongue muscle	79147	FKRP	ORPHA:370968
HP:0040173	Abnormality of the tongue muscle	29954	POMT2	ORPHA:370968
HP:0040173	Abnormality of the tongue muscle	9215	LARGE1	ORPHA:370968
HP:0040173	Abnormality of the tongue muscle	10585	POMT1	ORPHA:370968
HP:0040175	Platelet-activating factor acetylhydrolase deficiency	7941	PLA2G7	OMIM:614278
HP:0040176	Abnormal circulating phospholipid concentration	7941	PLA2G7	OMIM:614278
HP:0040176	Abnormal circulating phospholipid concentration	8443	GNPAT	OMIM:222765
HP:0040177	Abnormal level of platelet-activating factor	7941	PLA2G7	OMIM:614278
HP:0040178	Increased level of platelet-activating factor	7941	PLA2G7	OMIM:614278
HP:0040181	Chapped lip	5317	PKP1	ORPHA:158668
HP:0040181	Chapped lip	3853	KRT6A	OMIM:615726
HP:0040181	Chapped lip	6868	ADAM17	ORPHA:294023
HP:0040181	Chapped lip	1956	EGFR	ORPHA:294023
HP:0040183	Encopresis	1760	DMPK	ORPHA:589821
HP:0040183	Encopresis	23162	MAPK8IP3	OMIM:618443
HP:0040183	Encopresis	2132	EXT2	OMIM:616682
HP:0040184	Oral bleeding	5054	SERPINE1	ORPHA:465
HP:0040184	Oral bleeding	7454	WAS	OMIM:301000
HP:0040185	Macrothrombocytopenia	2815	GP9	OMIM:231200
HP:0040185	Macrothrombocytopenia	2815	GP9	ORPHA:274
HP:0040185	Macrothrombocytopenia	2811	GP1BA	OMIM:231200
HP:0040185	Macrothrombocytopenia	2811	GP1BA	ORPHA:274
HP:0040185	Macrothrombocytopenia	2812	GP1BB	OMIM:231200
HP:0040185	Macrothrombocytopenia	2812	GP1BB	ORPHA:274
HP:0040185	Macrothrombocytopenia	81027	TUBB1	OMIM:613112
HP:0040185	Macrothrombocytopenia	3674	ITGA2B	OMIM:187800
HP:0040185	Macrothrombocytopenia	10559	SLC35A1	OMIM:603585
HP:0040185	Macrothrombocytopenia	1729	DIAPH1	OMIM:124900
HP:0040185	Macrothrombocytopenia	4627	MYH9	OMIM:155100
HP:0040185	Macrothrombocytopenia	51807	TUBA8	OMIM:619840
HP:0040185	Macrothrombocytopenia	2623	GATA1	ORPHA:67044
HP:0040185	Macrothrombocytopenia	8328	GFI1B	OMIM:187900
HP:0040185	Macrothrombocytopenia	5568	PRKACG	OMIM:616176
HP:0040186	Maculopapular exanthema	5551	PRF1	ORPHA:540
HP:0040186	Maculopapular exanthema	8676	STX11	ORPHA:540
HP:0040186	Maculopapular exanthema	201294	UNC13D	ORPHA:540
HP:0040186	Maculopapular exanthema	6813	STXBP2	ORPHA:540
HP:0040186	Maculopapular exanthema	171023	ASXL1	ORPHA:98850
HP:0040186	Maculopapular exanthema	54790	TET2	ORPHA:98850
HP:0040186	Maculopapular exanthema	867	CBL	ORPHA:98850
HP:0040186	Maculopapular exanthema	861	RUNX1	ORPHA:98850
HP:0040186	Maculopapular exanthema	6427	SRSF2	ORPHA:98850
HP:0040186	Maculopapular exanthema	57169	ZNFX1	OMIM:619644
HP:0040186	Maculopapular exanthema	114548	NLRP3	OMIM:191900
HP:0040186	Maculopapular exanthema	7132	TNFRSF1A	OMIM:142680
HP:0040186	Maculopapular exanthema	8517	IKBKG	OMIM:308300
HP:0040186	Maculopapular exanthema	3815	KIT	ORPHA:79455
HP:0040186	Maculopapular exanthema	56244	BTNL2	ORPHA:797
HP:0040186	Maculopapular exanthema	3123	HLA-DRB1	ORPHA:797
HP:0040186	Maculopapular exanthema	2038	EPB42	ORPHA:822
HP:0040186	Maculopapular exanthema	6521	SLC4A1	ORPHA:822
HP:0040186	Maculopapular exanthema	6710	SPTB	ORPHA:822
HP:0040186	Maculopapular exanthema	6708	SPTA1	ORPHA:822
HP:0040186	Maculopapular exanthema	286	ANK1	ORPHA:822
HP:0040187	Neonatal sepsis	3575	IL7R	ORPHA:169154
HP:0040187	Neonatal sepsis	92579	G6PC3	OMIM:612541
HP:0040187	Neonatal sepsis	25839	COG4	ORPHA:263501
HP:0040187	Neonatal sepsis	84947	SERAC1	OMIM:614739
HP:0040188	Osteochondrosis	4088	SMAD3	ORPHA:284984
HP:0040188	Osteochondrosis	4088	SMAD3	OMIM:613795
HP:0040188	Osteochondrosis	4010	LMX1B	ORPHA:2614
HP:0040188	Osteochondrosis	1298	COL9A2	OMIM:600204
HP:0040188	Osteochondrosis	4322	MMP13	OMIM:250400
HP:0040188	Osteochondrosis	4998	ORC1	OMIM:224690
HP:0040188	Osteochondrosis	176	ACAN	OMIM:165800
HP:0040188	Osteochondrosis	2260	FGFR1	ORPHA:2396
HP:0040188	Osteochondrosis	3845	KRAS	ORPHA:2396
HP:0040188	Osteochondrosis	1859	DYRK1A	ORPHA:268261
HP:0040188	Osteochondrosis	71	ACTG1	ORPHA:2995
HP:0040188	Osteochondrosis	60	ACTB	ORPHA:2995
HP:0040189	Scaling skin	7286	TUFT1	OMIM:607655
HP:0040189	Scaling skin	4014	LORICRIN	ORPHA:79395
HP:0040189	Scaling skin	3575	IL7R	ORPHA:169154
HP:0040189	Scaling skin	987	LRBA	OMIM:614700
HP:0040189	Scaling skin	23586	RIGI	OMIM:616298
HP:0040189	Scaling skin	5317	PKP1	OMIM:604536
HP:0040189	Scaling skin	5317	PKP1	ORPHA:158668
HP:0040189	Scaling skin	10804	GJB6	ORPHA:477
HP:0040189	Scaling skin	2706	GJB2	ORPHA:477
HP:0040189	Scaling skin	3939	LDHA	ORPHA:284426
HP:0040189	Scaling skin	3858	KRT10	OMIM:607602
HP:0040189	Scaling skin	3858	KRT10	OMIM:609165
HP:0040189	Scaling skin	6820	SULT2B1	OMIM:617571
HP:0040189	Scaling skin	348938	NIPAL4	OMIM:612281
HP:0040189	Scaling skin	1041	CDSN	ORPHA:90368
HP:0040189	Scaling skin	1041	CDSN	OMIM:270300
HP:0040189	Scaling skin	121391	KRT74	ORPHA:90368
HP:0040189	Scaling skin	3848	KRT1	OMIM:620148
HP:0040189	Scaling skin	3848	KRT1	OMIM:113800
HP:0040189	Scaling skin	3848	KRT1	ORPHA:530838
HP:0040189	Scaling skin	3848	KRT1	OMIM:146590
HP:0040189	Scaling skin	9526	MPDU1	OMIM:609180
HP:0040189	Scaling skin	9526	MPDU1	ORPHA:79323
HP:0040189	Scaling skin	80067	DCAF17	ORPHA:3464
HP:0040189	Scaling skin	51360	MBTPS2	OMIM:308205
HP:0040189	Scaling skin	831	CAST	OMIM:616295
HP:0040189	Scaling skin	7051	TGM1	ORPHA:100976
HP:0040189	Scaling skin	3832	KIF11	ORPHA:2526
HP:0040189	Scaling skin	3815	KIT	ORPHA:79455
HP:0040189	Scaling skin	6868	ADAM17	ORPHA:294023
HP:0040189	Scaling skin	1956	EGFR	ORPHA:294023
HP:0040189	Scaling skin	9180	OSMR	OMIM:105250
HP:0040189	Scaling skin	388698	FLG2	OMIM:618084
HP:0040189	Scaling skin	4000	LMNA	ORPHA:1662
HP:0040189	Scaling skin	10269	ZMPSTE24	ORPHA:1662
HP:0040189	Scaling skin	10269	ZMPSTE24	OMIM:275210
HP:0040189	Scaling skin	5271	SERPINB8	OMIM:617115
HP:0040189	Scaling skin	5921	RASA1	ORPHA:90307
HP:0040189	Scaling skin	1475	CSTA	OMIM:607936
HP:0040189	Scaling skin	1475	CSTA	ORPHA:263534
HP:0040189	Scaling skin	9333	TGM5	ORPHA:263534
HP:0040189	Scaling skin	9333	TGM5	OMIM:609796
HP:0040189	Scaling skin	79092	CARD14	OMIM:602723
HP:0040189	Scaling skin	23328	SASH1	OMIM:618373
HP:0040189	Scaling skin	146206	CARMIL2	OMIM:618131
HP:0040189	Scaling skin	10682	EBP	ORPHA:35173
HP:0040189	Scaling skin	55012	PPP2R3C	OMIM:618419
HP:0040189	Scaling skin	2783	GNB2	OMIM:619503
HP:0040189	Scaling skin	6785	ELOVL4	OMIM:614457
HP:0040189	Scaling skin	2697	GJA1	ORPHA:1010
HP:0040189	Scaling skin	25939	SAMHD1	OMIM:612952
HP:0040189	Scaling skin	3559	IL2RA	OMIM:606367
HP:0040189	Scaling skin	165918	RNF168	ORPHA:420741
HP:0040189	Scaling skin	126410	CYP4F22	OMIM:604777
HP:0040189	Scaling skin	64377	CHST8	OMIM:616265
HP:0040189	Scaling skin	23581	CASP14	OMIM:617320
HP:0040190	White scaling skin	126410	CYP4F22	OMIM:604777
HP:0040190	White scaling skin	64377	CHST8	OMIM:616265
HP:0040190	White scaling skin	23581	CASP14	OMIM:617320
HP:0040191	Rectus femoris muscle atrophy	6261	RYR1	ORPHA:597
HP:0040191	Rectus femoris muscle atrophy	6261	RYR1	ORPHA:424107
HP:0040191	Rectus femoris muscle atrophy	6261	RYR1	ORPHA:98905
HP:0040194	Increased head circumference	51256	TBC1D7	OMIM:248000
HP:0040194	Increased head circumference	1139	CHRNA7	ORPHA:199318
HP:0040194	Increased head circumference	2132	EXT2	OMIM:616682
HP:0040194	Increased head circumference	2132	EXT2	ORPHA:466926
HP:0040194	Increased head circumference	3008	H1-4	OMIM:617537
HP:0040194	Increased head circumference	91801	ALKBH8	OMIM:618504
HP:0040194	Increased head circumference	3703	STT3A	OMIM:619714
HP:0040194	Increased head circumference	2261	FGFR3	ORPHA:53271
HP:0040194	Increased head circumference	2261	FGFR3	OMIM:146000
HP:0040194	Increased head circumference	2261	FGFR3	ORPHA:1860
HP:0040194	Increased head circumference	2261	FGFR3	OMIM:616482
HP:0040194	Increased head circumference	2261	FGFR3	ORPHA:429
HP:0040194	Increased head circumference	2261	FGFR3	ORPHA:15
HP:0040194	Increased head circumference	2261	FGFR3	OMIM:602849
HP:0040194	Increased head circumference	2261	FGFR3	ORPHA:93274
HP:0040194	Increased head circumference	2261	FGFR3	OMIM:100800
HP:0040194	Increased head circumference	2261	FGFR3	OMIM:187600
HP:0040194	Increased head circumference	1788	DNMT3A	ORPHA:404443
HP:0040194	Increased head circumference	1788	DNMT3A	OMIM:615879
HP:0040194	Increased head circumference	5457	POU4F1	ORPHA:314647
HP:0040194	Increased head circumference	23261	CAMTA1	ORPHA:314647
HP:0040194	Increased head circumference	23261	CAMTA1	OMIM:614756
HP:0040194	Increased head circumference	4125	MAN2B1	ORPHA:309282
HP:0040194	Increased head circumference	4125	MAN2B1	OMIM:248500
HP:0040194	Increased head circumference	9578	CDC42BPB	OMIM:619841
HP:0040194	Increased head circumference	3020	H3-3A	OMIM:619720
HP:0040194	Increased head circumference	2737	GLI3	ORPHA:380
HP:0040194	Increased head circumference	2737	GLI3	ORPHA:672
HP:0040194	Increased head circumference	2737	GLI3	ORPHA:36
HP:0040194	Increased head circumference	2737	GLI3	OMIM:175700
HP:0040194	Increased head circumference	3021	H3-3B	OMIM:619721
HP:0040194	Increased head circumference	1855	DVL1	OMIM:616331
HP:0040194	Increased head circumference	1855	DVL1	OMIM:180700
HP:0040194	Increased head circumference	1855	DVL1	ORPHA:3107
HP:0040194	Increased head circumference	55790	CSGALNACT1	OMIM:618870
HP:0040194	Increased head circumference	51111	KMT5B	OMIM:617788
HP:0040194	Increased head circumference	79639	TMEM53	OMIM:619727
HP:0040194	Increased head circumference	10730	YME1L1	OMIM:617302
HP:0040194	Increased head circumference	55904	KMT2E	OMIM:618512
HP:0040194	Increased head circumference	129563	DIS3L2	ORPHA:2849
HP:0040194	Increased head circumference	3764	KCNJ8	ORPHA:1517
HP:0040194	Increased head circumference	10060	ABCC9	ORPHA:1517
HP:0040194	Increased head circumference	10060	ABCC9	OMIM:239850
HP:0040194	Increased head circumference	5189	PEX1	OMIM:214100
HP:0040194	Increased head circumference	5189	PEX1	ORPHA:44
HP:0040194	Increased head circumference	5189	PEX1	ORPHA:912
HP:0040194	Increased head circumference	50964	SOST	ORPHA:1513
HP:0040194	Increased head circumference	50964	SOST	OMIM:122860
HP:0040194	Increased head circumference	317662	FAM149B1	OMIM:618763
HP:0040194	Increased head circumference	818	CAMK2G	OMIM:618522
HP:0040194	Increased head circumference	284058	KANSL1	ORPHA:363958
HP:0040194	Increased head circumference	284058	KANSL1	ORPHA:363965
HP:0040194	Increased head circumference	55870	ASH1L	OMIM:617796
HP:0040194	Increased head circumference	54453	RIN2	OMIM:613075
HP:0040194	Increased head circumference	815	CAMK2A	OMIM:617798
HP:0040194	Increased head circumference	3423	IDS	ORPHA:217085
HP:0040194	Increased head circumference	3423	IDS	OMIM:309900
HP:0040194	Increased head circumference	3423	IDS	ORPHA:217093
HP:0040194	Increased head circumference	56172	ANKH	OMIM:123000
HP:0040194	Increased head circumference	10381	TUBB3	ORPHA:300570
HP:0040194	Increased head circumference	10381	TUBB3	ORPHA:467166
HP:0040194	Increased head circumference	1183	CLCN4	ORPHA:485350
HP:0040194	Increased head circumference	84100	ARL6	OMIM:209900
HP:0040194	Increased head circumference	79140	CCDC28B	OMIM:209900
HP:0040194	Increased head circumference	582	BBS1	OMIM:209900
HP:0040194	Increased head circumference	55109	AGGF1	ORPHA:90308
HP:0040194	Increased head circumference	4920	ROR2	ORPHA:1507
HP:0040194	Increased head circumference	4920	ROR2	OMIM:268310
HP:0040194	Increased head circumference	10484	SEC23A	OMIM:607812
HP:0040194	Increased head circumference	1105	CHD1	OMIM:617682
HP:0040194	Increased head circumference	1105	CHD1	ORPHA:529965
HP:0040194	Increased head circumference	8726	EED	OMIM:617561
HP:0040194	Increased head circumference	8726	EED	ORPHA:3447
HP:0040194	Increased head circumference	5528	PPP2R5D	OMIM:616355
HP:0040194	Increased head circumference	5528	PPP2R5D	ORPHA:457279
HP:0040194	Increased head circumference	93627	TBCK	ORPHA:488632
HP:0040194	Increased head circumference	93627	TBCK	OMIM:616900
HP:0040194	Increased head circumference	28514	DLL1	ORPHA:93926
HP:0040194	Increased head circumference	28514	DLL1	ORPHA:93924
HP:0040194	Increased head circumference	28514	DLL1	ORPHA:93925
HP:0040194	Increased head circumference	28514	DLL1	OMIM:618709
HP:0040194	Increased head circumference	28514	DLL1	ORPHA:220386
HP:0040194	Increased head circumference	2253	FGF8	ORPHA:93926
HP:0040194	Increased head circumference	2253	FGF8	ORPHA:93924
HP:0040194	Increased head circumference	2253	FGF8	ORPHA:93925
HP:0040194	Increased head circumference	2253	FGF8	ORPHA:220386
HP:0040194	Increased head circumference	6496	SIX3	ORPHA:93926
HP:0040194	Increased head circumference	6496	SIX3	ORPHA:93924
HP:0040194	Increased head circumference	6496	SIX3	ORPHA:93925
HP:0040194	Increased head circumference	6496	SIX3	ORPHA:220386
HP:0040194	Increased head circumference	7050	TGIF1	ORPHA:93926
HP:0040194	Increased head circumference	7050	TGIF1	ORPHA:93924
HP:0040194	Increased head circumference	7050	TGIF1	ORPHA:93925
HP:0040194	Increased head circumference	7050	TGIF1	ORPHA:220386
HP:0040194	Increased head circumference	4838	NODAL	ORPHA:93926
HP:0040194	Increased head circumference	4838	NODAL	ORPHA:93924
HP:0040194	Increased head circumference	4838	NODAL	ORPHA:93925
HP:0040194	Increased head circumference	4838	NODAL	ORPHA:220386
HP:0040194	Increased head circumference	6469	SHH	ORPHA:93926
HP:0040194	Increased head circumference	6469	SHH	ORPHA:93924
HP:0040194	Increased head circumference	6469	SHH	ORPHA:93925
HP:0040194	Increased head circumference	6469	SHH	ORPHA:220386
HP:0040194	Increased head circumference	7546	ZIC2	ORPHA:93926
HP:0040194	Increased head circumference	7546	ZIC2	ORPHA:93924
HP:0040194	Increased head circumference	7546	ZIC2	ORPHA:93925
HP:0040194	Increased head circumference	7546	ZIC2	ORPHA:220386
HP:0040194	Increased head circumference	6491	STIL	ORPHA:93926
HP:0040194	Increased head circumference	6491	STIL	ORPHA:93924
HP:0040194	Increased head circumference	6491	STIL	ORPHA:93925
HP:0040194	Increased head circumference	6491	STIL	ORPHA:220386
HP:0040194	Increased head circumference	2619	GAS1	ORPHA:93926
HP:0040194	Increased head circumference	2619	GAS1	ORPHA:93924
HP:0040194	Increased head circumference	2619	GAS1	ORPHA:93925
HP:0040194	Increased head circumference	2619	GAS1	ORPHA:220386
HP:0040194	Increased head circumference	84976	DISP1	ORPHA:93926
HP:0040194	Increased head circumference	84976	DISP1	ORPHA:93924
HP:0040194	Increased head circumference	84976	DISP1	ORPHA:93925
HP:0040194	Increased head circumference	84976	DISP1	ORPHA:220386
HP:0040194	Increased head circumference	2736	GLI2	ORPHA:93926
HP:0040194	Increased head circumference	2736	GLI2	ORPHA:93924
HP:0040194	Increased head circumference	2736	GLI2	ORPHA:93925
HP:0040194	Increased head circumference	2736	GLI2	ORPHA:220386
HP:0040194	Increased head circumference	8928	FOXH1	ORPHA:93926
HP:0040194	Increased head circumference	8928	FOXH1	ORPHA:93924
HP:0040194	Increased head circumference	8928	FOXH1	ORPHA:93925
HP:0040194	Increased head circumference	8928	FOXH1	ORPHA:220386
HP:0040194	Increased head circumference	5727	PTCH1	ORPHA:93926
HP:0040194	Increased head circumference	5727	PTCH1	ORPHA:93924
HP:0040194	Increased head circumference	5727	PTCH1	ORPHA:93925
HP:0040194	Increased head circumference	5727	PTCH1	OMIM:610828
HP:0040194	Increased head circumference	5727	PTCH1	OMIM:109400
HP:0040194	Increased head circumference	5727	PTCH1	ORPHA:77301
HP:0040194	Increased head circumference	5727	PTCH1	ORPHA:220386
HP:0040194	Increased head circumference	50937	CDON	ORPHA:93926
HP:0040194	Increased head circumference	50937	CDON	ORPHA:93924
HP:0040194	Increased head circumference	50937	CDON	ORPHA:93925
HP:0040194	Increased head circumference	50937	CDON	ORPHA:220386
HP:0040194	Increased head circumference	2783	GNB2	OMIM:619503
HP:0040194	Increased head circumference	2260	FGFR1	ORPHA:93924
HP:0040194	Increased head circumference	2260	FGFR1	ORPHA:2396
HP:0040194	Increased head circumference	2260	FGFR1	ORPHA:220386
HP:0040194	Increased head circumference	26057	ANKRD17	OMIM:619504
HP:0040194	Increased head circumference	23007	PLCH1	ORPHA:93925
HP:0040194	Increased head circumference	23007	PLCH1	OMIM:619895
HP:0040194	Increased head circumference	10735	STAG2	ORPHA:93925
HP:0040194	Increased head circumference	10735	STAG2	ORPHA:220386
HP:0040194	Increased head circumference	4247	MGAT2	OMIM:212066
HP:0040194	Increased head circumference	2773	GNAI3	OMIM:602483
HP:0040194	Increased head circumference	2773	GNAI3	ORPHA:137888
HP:0040194	Increased head circumference	3476	IGBP1	ORPHA:52055
HP:0040194	Increased head circumference	3476	IGBP1	OMIM:300472
HP:0040194	Increased head circumference	11285	B4GALT7	OMIM:130070
HP:0040194	Increased head circumference	11285	B4GALT7	ORPHA:75496
HP:0040194	Increased head circumference	1182	CLCN3	OMIM:619512
HP:0040194	Increased head circumference	23512	SUZ12	OMIM:618786
HP:0040194	Increased head circumference	23512	SUZ12	ORPHA:3447
HP:0040194	Increased head circumference	51604	PIGT	OMIM:615398
HP:0040194	Increased head circumference	57680	CHD8	OMIM:615032
HP:0040194	Increased head circumference	3572	IL6ST	OMIM:619750
HP:0040194	Increased head circumference	100128927	ZBTB42	OMIM:616248
HP:0040194	Increased head circumference	285362	SUMF1	ORPHA:585
HP:0040194	Increased head circumference	26137	ZBTB20	OMIM:259050
HP:0040194	Increased head circumference	27086	FOXP1	ORPHA:391372
HP:0040194	Increased head circumference	27086	FOXP1	OMIM:613670
HP:0040194	Increased head circumference	6942	TCF20	OMIM:618430
HP:0040194	Increased head circumference	9158	FIBP	OMIM:617107
HP:0040194	Increased head circumference	9158	FIBP	ORPHA:500095
HP:0040194	Increased head circumference	2263	FGFR2	ORPHA:168624
HP:0040194	Increased head circumference	200424	TET3	OMIM:618798
HP:0040194	Increased head circumference	9772	TMEM94	OMIM:618316
HP:0040194	Increased head circumference	51341	ZBTB7A	OMIM:619769
HP:0040194	Increased head circumference	4626	MYH8	OMIM:158300
HP:0040194	Increased head circumference	7030	TFE3	OMIM:301066
HP:0040194	Increased head circumference	2239	GPC4	ORPHA:373
HP:0040194	Increased head circumference	2239	GPC4	OMIM:312870
HP:0040194	Increased head circumference	2239	GPC4	OMIM:301026
HP:0040194	Increased head circumference	2239	GPC4	ORPHA:2662
HP:0040194	Increased head circumference	2719	GPC3	ORPHA:373
HP:0040194	Increased head circumference	2719	GPC3	OMIM:312870
HP:0040194	Increased head circumference	4123	MAN2C1	OMIM:619775
HP:0040194	Increased head circumference	54941	RNF125	OMIM:616260
HP:0040194	Increased head circumference	1107	CHD3	OMIM:618205
HP:0040194	Increased head circumference	4488	MSX2	OMIM:168550
HP:0040194	Increased head circumference	4488	MSX2	OMIM:168500
HP:0040194	Increased head circumference	80173	IFT74	OMIM:617119
HP:0040194	Increased head circumference	84295	PHF6	ORPHA:127
HP:0040194	Increased head circumference	1967	EIF2B1	OMIM:603896
HP:0040194	Increased head circumference	2697	GJA1	OMIM:218400
HP:0040194	Increased head circumference	9896	FIG4	ORPHA:208441
HP:0040194	Increased head circumference	3845	KRAS	OMIM:600268
HP:0040194	Increased head circumference	3845	KRAS	ORPHA:2396
HP:0040194	Increased head circumference	3845	KRAS	ORPHA:3339
HP:0040194	Increased head circumference	3845	KRAS	ORPHA:1340
HP:0040194	Increased head circumference	25970	SH2B1	ORPHA:261197
HP:0040194	Increased head circumference	6576	SLC25A1	OMIM:615182
HP:0040194	Increased head circumference	112752	IFT43	OMIM:614099
HP:0040194	Increased head circumference	6654	SOS1	OMIM:610733
HP:0040194	Increased head circumference	389827	MYMK	OMIM:254940
HP:0040194	Increased head circumference	79944	L2HGDH	ORPHA:79314
HP:0040194	Increased head circumference	3912	LAMB1	OMIM:615191
HP:0040194	Increased head circumference	8925	HERC1	OMIM:617011
HP:0040194	Increased head circumference	8925	HERC1	ORPHA:457359
HP:0040194	Increased head circumference	4723	NDUFV1	OMIM:618225
HP:0040194	Increased head circumference	23516	SLC39A14	OMIM:617013
HP:0040194	Increased head circumference	92335	STRADA	ORPHA:500533
HP:0040194	Increased head circumference	92335	STRADA	OMIM:611087
HP:0040194	Increased head circumference	51259	TMEM216	OMIM:608091
HP:0040194	Increased head circumference	56623	INPP5E	OMIM:213300
HP:0040194	Increased head circumference	56623	INPP5E	ORPHA:1454
HP:0040194	Increased head circumference	10312	TCIRG1	ORPHA:667
HP:0040194	Increased head circumference	10312	TCIRG1	OMIM:259700
HP:0040194	Increased head circumference	10312	TCIRG1	ORPHA:1782
HP:0040194	Increased head circumference	1186	CLCN7	ORPHA:667
HP:0040194	Increased head circumference	1186	CLCN7	ORPHA:53
HP:0040194	Increased head circumference	29887	SNX10	ORPHA:667
HP:0040194	Increased head circumference	29887	SNX10	OMIM:615085
HP:0040194	Increased head circumference	8600	TNFSF11	ORPHA:667
HP:0040194	Increased head circumference	374654	KIF7	ORPHA:36
HP:0040194	Increased head circumference	374654	KIF7	ORPHA:166024
HP:0040194	Increased head circumference	374654	KIF7	OMIM:200990
HP:0040194	Increased head circumference	374654	KIF7	OMIM:607131
HP:0040194	Increased head circumference	5515	PPP2CA	OMIM:618354
HP:0040194	Increased head circumference	650	BMP2	ORPHA:261295
HP:0040194	Increased head circumference	1193	CLIC2	OMIM:300886
HP:0040194	Increased head circumference	1436	CSF1R	OMIM:618476
HP:0040194	Increased head circumference	9871	SEC24D	OMIM:616294
HP:0040194	Increased head circumference	79868	ALG13	OMIM:300884
HP:0040194	Increased head circumference	29998	BICRA	OMIM:619325
HP:0040194	Increased head circumference	6492	SIM1	ORPHA:171829
HP:0040194	Increased head circumference	443	ASPA	ORPHA:314918
HP:0040194	Increased head circumference	443	ASPA	ORPHA:314911
HP:0040194	Increased head circumference	443	ASPA	OMIM:271900
HP:0040194	Increased head circumference	23729	SHPK	ORPHA:440713
HP:0040194	Increased head circumference	51114	ZDHHC9	ORPHA:776
HP:0040194	Increased head circumference	65109	UPF3B	ORPHA:776
HP:0040194	Increased head circumference	65109	UPF3B	OMIM:300676
HP:0040194	Increased head circumference	84892	POMGNT2	ORPHA:899
HP:0040194	Increased head circumference	148789	B3GALNT2	ORPHA:899
HP:0040194	Increased head circumference	79147	FKRP	ORPHA:899
HP:0040194	Increased head circumference	29954	POMT2	ORPHA:899
HP:0040194	Increased head circumference	9215	LARGE1	ORPHA:899
HP:0040194	Increased head circumference	1282	COL4A1	ORPHA:899
HP:0040194	Increased head circumference	729920	CRPPA	ORPHA:899
HP:0040194	Increased head circumference	729920	CRPPA	OMIM:614643
HP:0040194	Increased head circumference	10329	RXYLT1	ORPHA:899
HP:0040194	Increased head circumference	1605	DAG1	ORPHA:899
HP:0040194	Increased head circumference	1605	DAG1	OMIM:616538
HP:0040194	Increased head circumference	11041	B4GAT1	ORPHA:899
HP:0040194	Increased head circumference	10585	POMT1	ORPHA:899
HP:0040194	Increased head circumference	84197	POMK	ORPHA:899
HP:0040194	Increased head circumference	2218	FKTN	ORPHA:899
HP:0040194	Increased head circumference	55624	POMGNT1	ORPHA:899
HP:0040194	Increased head circumference	3417	IDH1	ORPHA:99646
HP:0040194	Increased head circumference	114548	NLRP3	ORPHA:575
HP:0040194	Increased head circumference	114548	NLRP3	ORPHA:1451
HP:0040194	Increased head circumference	347733	TUBB2B	ORPHA:467166
HP:0040194	Increased head circumference	7846	TUBA1A	ORPHA:467166
HP:0040194	Increased head circumference	57551	TAOK1	OMIM:619575
HP:0040194	Increased head circumference	25915	NDUFAF3	OMIM:618240
HP:0040194	Increased head circumference	3756	KCNH1	OMIM:135500
HP:0040194	Increased head circumference	1108	CHD4	OMIM:617159
HP:0040194	Increased head circumference	84188	FAR1	OMIM:619338
HP:0040194	Increased head circumference	116442	RAB39B	OMIM:311510
HP:0040194	Increased head circumference	116442	RAB39B	ORPHA:2379
HP:0040194	Increased head circumference	116442	RAB39B	OMIM:300271
HP:0040194	Increased head circumference	3897	L1CAM	OMIM:307000
HP:0040194	Increased head circumference	3897	L1CAM	OMIM:303350
HP:0040194	Increased head circumference	3265	HRAS	ORPHA:3071
HP:0040194	Increased head circumference	3265	HRAS	OMIM:218040
HP:0040194	Increased head circumference	10483	SEC23B	ORPHA:201
HP:0040194	Increased head circumference	10483	SEC23B	OMIM:616858
HP:0040194	Increased head circumference	6390	SDHB	ORPHA:201
HP:0040194	Increased head circumference	6392	SDHD	ORPHA:201
HP:0040194	Increased head circumference	6391	SDHC	ORPHA:201
HP:0040194	Increased head circumference	205717	USF3	ORPHA:201
HP:0040194	Increased head circumference	100144748	KLLN	ORPHA:201
HP:0040194	Increased head circumference	100144748	KLLN	OMIM:615107
HP:0040194	Increased head circumference	7319	UBE2A	OMIM:300860
HP:0040194	Increased head circumference	7319	UBE2A	ORPHA:163956
HP:0040194	Increased head circumference	1760	DMPK	ORPHA:589821
HP:0040194	Increased head circumference	10013	HDAC6	OMIM:300863
HP:0040194	Increased head circumference	2009	EML1	OMIM:600348
HP:0040194	Increased head circumference	2332	FMR1	OMIM:300624
HP:0040194	Increased head circumference	2332	FMR1	ORPHA:908
HP:0040194	Increased head circumference	2475	MTOR	ORPHA:457485
HP:0040194	Increased head circumference	2475	MTOR	ORPHA:99802
HP:0040194	Increased head circumference	2475	MTOR	OMIM:616638
HP:0040194	Increased head circumference	2683	B4GALT1	OMIM:607091
HP:0040194	Increased head circumference	220296	HEPACAM	OMIM:613925
HP:0040194	Increased head circumference	220296	HEPACAM	OMIM:613926
HP:0040194	Increased head circumference	220296	HEPACAM	OMIM:604004
HP:0040194	Increased head circumference	8812	CCNK	OMIM:618147
HP:0040194	Increased head circumference	2892	GRIA3	ORPHA:364028
HP:0040194	Increased head circumference	2892	GRIA3	OMIM:300699
HP:0040194	Increased head circumference	4041	LRP5	ORPHA:178377
HP:0040194	Increased head circumference	10847	SRCAP	OMIM:619595
HP:0040194	Increased head circumference	145173	B3GLCT	OMIM:261540
HP:0040194	Increased head circumference	6711	SPTBN1	OMIM:619475
HP:0040194	Increased head circumference	6608	SMO	OMIM:241800
HP:0040194	Increased head circumference	10283	CWC27	OMIM:250410
HP:0040194	Increased head circumference	6513	SLC2A1	ORPHA:168577
HP:0040194	Increased head circumference	1836	SLC26A2	ORPHA:628
HP:0040194	Increased head circumference	1836	SLC26A2	ORPHA:93298
HP:0040194	Increased head circumference	4534	MTM1	OMIM:310400
HP:0040194	Increased head circumference	10653	SPINT2	OMIM:270420
HP:0040194	Increased head circumference	23405	DICER1	OMIM:618272
HP:0040194	Increased head circumference	3636	INPPL1	OMIM:258480
HP:0040194	Increased head circumference	3636	INPPL1	ORPHA:3144
HP:0040194	Increased head circumference	3636	INPPL1	ORPHA:2746
HP:0040194	Increased head circumference	2571	GAD1	OMIM:619124
HP:0040194	Increased head circumference	23112	TNRC6B	OMIM:619243
HP:0040194	Increased head circumference	288	ANK3	ORPHA:356996
HP:0040194	Increased head circumference	6853	SYN1	ORPHA:85294
HP:0040194	Increased head circumference	6853	SYN1	OMIM:300491
HP:0040194	Increased head circumference	23169	SLC35D1	OMIM:269250
HP:0040194	Increased head circumference	23169	SLC35D1	ORPHA:3144
HP:0040194	Increased head circumference	2799	GNS	OMIM:252940
HP:0040194	Increased head circumference	55252	ASXL2	OMIM:617190
HP:0040194	Increased head circumference	777	CACNA1E	OMIM:618285
HP:0040194	Increased head circumference	8242	KDM5C	ORPHA:85279
HP:0040194	Increased head circumference	8242	KDM5C	OMIM:300534
HP:0040194	Increased head circumference	4781	NFIB	OMIM:618286
HP:0040194	Increased head circumference	8481	OFD1	OMIM:300804
HP:0040194	Increased head circumference	8481	OFD1	OMIM:300209
HP:0040194	Increased head circumference	3295	HSD17B4	OMIM:261515
HP:0040194	Increased head circumference	7474	WNT5A	OMIM:180700
HP:0040194	Increased head circumference	7474	WNT5A	ORPHA:3107
HP:0040194	Increased head circumference	9897	WASHC5	ORPHA:7
HP:0040194	Increased head circumference	23299	BICD2	OMIM:618291
HP:0040194	Increased head circumference	6913	TBX15	OMIM:260660
HP:0040194	Increased head circumference	6913	TBX15	ORPHA:93333
HP:0040194	Increased head circumference	1496	CTNNA2	OMIM:618174
HP:0040194	Increased head circumference	161742	SPRED1	ORPHA:137605
HP:0040194	Increased head circumference	161742	SPRED1	OMIM:611431
HP:0040194	Increased head circumference	25886	POC1A	OMIM:614813
HP:0040194	Increased head circumference	55294	FBXW7	OMIM:620012
HP:0040194	Increased head circumference	7337	UBE3A	ORPHA:238446
HP:0040194	Increased head circumference	2077	ERF	OMIM:600775
HP:0040194	Increased head circumference	894	CCND2	ORPHA:83473
HP:0040194	Increased head circumference	894	CCND2	OMIM:615938
HP:0040194	Increased head circumference	5296	PIK3R2	ORPHA:83473
HP:0040194	Increased head circumference	5296	PIK3R2	OMIM:603387
HP:0040194	Increased head circumference	10000	AKT3	ORPHA:83473
HP:0040194	Increased head circumference	10000	AKT3	ORPHA:99802
HP:0040194	Increased head circumference	10000	AKT3	OMIM:615937
HP:0040194	Increased head circumference	84282	RNF135	ORPHA:137634
HP:0040194	Increased head circumference	57539	WDR35	OMIM:613610
HP:0040194	Increased head circumference	57539	WDR35	ORPHA:93271
HP:0040194	Increased head circumference	5894	RAF1	OMIM:611553
HP:0040194	Increased head circumference	118429	ANTXR2	ORPHA:2176
HP:0040194	Increased head circumference	8854	ALDH1A2	OMIM:620025
HP:0040194	Increased head circumference	4774	NFIA	OMIM:613735
HP:0040194	Increased head circumference	4774	NFIA	ORPHA:401986
HP:0040194	Increased head circumference	4983	OPHN1	OMIM:300486
HP:0040194	Increased head circumference	55112	DYNC2I1	ORPHA:93271
HP:0040194	Increased head circumference	55112	DYNC2I1	OMIM:615503
HP:0040194	Increased head circumference	57560	IFT80	ORPHA:93271
HP:0040194	Increased head circumference	79659	DYNC2H1	ORPHA:93271
HP:0040194	Increased head circumference	89891	DYNC2I2	ORPHA:93271
HP:0040194	Increased head circumference	5744	PTHLH	ORPHA:93387
HP:0040194	Increased head circumference	3239	HOXD13	ORPHA:93387
HP:0040194	Increased head circumference	55780	ERMARD	ORPHA:75857
HP:0040194	Increased head circumference	9739	SETD1A	OMIM:619056
HP:0040194	Increased head circumference	80204	FBXO11	OMIM:618089
HP:0040194	Increased head circumference	3070	HELLS	ORPHA:2268
HP:0040194	Increased head circumference	1789	DNMT3B	ORPHA:2268
HP:0040194	Increased head circumference	83879	CDCA7	ORPHA:2268
HP:0040194	Increased head circumference	9841	ZBTB24	ORPHA:2268
HP:0040194	Increased head circumference	4338	MOCS2	OMIM:252160
HP:0040194	Increased head circumference	4036	LRP2	ORPHA:2143
HP:0040194	Increased head circumference	4036	LRP2	OMIM:222448
HP:0040194	Increased head circumference	1906	EDN1	ORPHA:137888
HP:0040194	Increased head circumference	5332	PLCB4	ORPHA:137888
HP:0040194	Increased head circumference	5332	PLCB4	OMIM:614669
HP:0040194	Increased head circumference	657	BMPR1A	ORPHA:79076
HP:0040194	Increased head circumference	3425	IDUA	OMIM:607014
HP:0040194	Increased head circumference	4853	NOTCH2	ORPHA:955
HP:0040194	Increased head circumference	2200	FBN1	OMIM:616914
HP:0040194	Increased head circumference	1802	DPH2	OMIM:620062
HP:0040194	Increased head circumference	5447	POR	OMIM:201750
HP:0040194	Increased head circumference	1857	DVL3	ORPHA:3107
HP:0040194	Increased head circumference	1857	DVL3	OMIM:616894
HP:0040194	Increased head circumference	2535	FZD2	ORPHA:3107
HP:0040194	Increased head circumference	5190	PEX6	OMIM:614863
HP:0040194	Increased head circumference	5190	PEX6	ORPHA:44
HP:0040194	Increased head circumference	5190	PEX6	ORPHA:912
HP:0040194	Increased head circumference	81031	SLC2A10	ORPHA:3342
HP:0040194	Increased head circumference	4784	NFIX	ORPHA:420179
HP:0040194	Increased head circumference	4784	NFIX	OMIM:614753
HP:0040194	Increased head circumference	54499	TMCO1	OMIM:213980
HP:0040194	Increased head circumference	54499	TMCO1	ORPHA:1394
HP:0040194	Increased head circumference	22859	ADGRL1	OMIM:620065
HP:0040194	Increased head circumference	6609	SMPD1	OMIM:257200
HP:0040194	Increased head circumference	728294	D2HGDH	OMIM:600721
HP:0040194	Increased head circumference	6558	SLC12A2	OMIM:619081
HP:0040194	Increased head circumference	4089	SMAD4	OMIM:139210
HP:0040194	Increased head circumference	5159	PDGFRB	OMIM:601812
HP:0040194	Increased head circumference	9568	GABBR2	OMIM:617903
HP:0040194	Increased head circumference	9555	MACROH2A1	ORPHA:1275
HP:0040194	Increased head circumference	5307	PITX1	ORPHA:1275
HP:0040194	Increased head circumference	5340	PLG	OMIM:217090
HP:0040194	Increased head circumference	6598	SMARCB1	ORPHA:99966
HP:0040194	Increased head circumference	34	ACADM	ORPHA:42
HP:0040194	Increased head circumference	55670	PEX26	ORPHA:44
HP:0040194	Increased head circumference	55670	PEX26	ORPHA:912
HP:0040194	Increased head circumference	5824	PEX19	ORPHA:44
HP:0040194	Increased head circumference	5824	PEX19	ORPHA:912
HP:0040194	Increased head circumference	5828	PEX2	ORPHA:44
HP:0040194	Increased head circumference	5828	PEX2	ORPHA:912
HP:0040194	Increased head circumference	8504	PEX3	ORPHA:44
HP:0040194	Increased head circumference	8504	PEX3	ORPHA:912
HP:0040194	Increased head circumference	9409	PEX16	ORPHA:44
HP:0040194	Increased head circumference	9409	PEX16	ORPHA:912
HP:0040194	Increased head circumference	8799	PEX11B	ORPHA:44
HP:0040194	Increased head circumference	8799	PEX11B	ORPHA:912
HP:0040194	Increased head circumference	5830	PEX5	ORPHA:44
HP:0040194	Increased head circumference	5830	PEX5	ORPHA:912
HP:0040194	Increased head circumference	5193	PEX12	ORPHA:44
HP:0040194	Increased head circumference	5193	PEX12	ORPHA:912
HP:0040194	Increased head circumference	5194	PEX13	ORPHA:44
HP:0040194	Increased head circumference	5194	PEX13	ORPHA:912
HP:0040194	Increased head circumference	5195	PEX14	ORPHA:44
HP:0040194	Increased head circumference	5195	PEX14	ORPHA:912
HP:0040194	Increased head circumference	5192	PEX10	ORPHA:44
HP:0040194	Increased head circumference	5192	PEX10	ORPHA:912
HP:0040194	Increased head circumference	254065	BRWD3	OMIM:300659
HP:0040194	Increased head circumference	26047	CNTNAP2	OMIM:610042
HP:0040194	Increased head circumference	2146	EZH2	OMIM:277590
HP:0040194	Increased head circumference	2146	EZH2	ORPHA:3447
HP:0040194	Increased head circumference	2776	GNAQ	ORPHA:3205
HP:0040194	Increased head circumference	2776	GNAQ	OMIM:185300
HP:0040194	Increased head circumference	5781	PTPN11	OMIM:151100
HP:0040194	Increased head circumference	23590	PDSS1	OMIM:614651
HP:0040194	Increased head circumference	3720	JARID2	OMIM:620098
HP:0040194	Increased head circumference	10075	HUWE1	OMIM:309590
HP:0040194	Increased head circumference	579	NKX3-2	OMIM:613330
HP:0040194	Increased head circumference	84627	ZNF469	OMIM:229200
HP:0040194	Increased head circumference	132	ADK	OMIM:614300
HP:0040194	Increased head circumference	4038	LRP4	OMIM:614305
HP:0040194	Increased head circumference	9759	HDAC4	ORPHA:1001
HP:0040194	Increased head circumference	11133	KPTN	OMIM:615637
HP:0040194	Increased head circumference	11133	KPTN	ORPHA:397612
HP:0040194	Increased head circumference	10586	MAB21L2	OMIM:615877
HP:0040194	Increased head circumference	85358	SHANK3	OMIM:606232
HP:0040194	Increased head circumference	85358	SHANK3	ORPHA:48652
HP:0040194	Increased head circumference	23028	KDM1A	OMIM:616728
HP:0040194	Increased head circumference	23028	KDM1A	ORPHA:477993
HP:0040194	Increased head circumference	4591	TRIM37	ORPHA:2576
HP:0040194	Increased head circumference	411	ARSB	OMIM:253200
HP:0040194	Increased head circumference	55593	OTUD5	OMIM:301056
HP:0040194	Increased head circumference	2334	AFF2	ORPHA:100973
HP:0040194	Increased head circumference	84162	BLTP1	OMIM:617822
HP:0040194	Increased head circumference	473	RERE	OMIM:616975
HP:0040194	Increased head circumference	4893	NRAS	OMIM:613224
HP:0040194	Increased head circumference	5339	PLEC	OMIM:612138
HP:0040194	Increased head circumference	64221	ROBO3	OMIM:607313
HP:0040194	Increased head circumference	11253	MAN1B1	OMIM:614202
HP:0040194	Increased head circumference	134701	RIPPLY2	ORPHA:2311
HP:0040194	Increased head circumference	10683	DLL3	ORPHA:2311
HP:0040194	Increased head circumference	3955	LFNG	ORPHA:2311
HP:0040194	Increased head circumference	84667	HES7	ORPHA:2311
HP:0040194	Increased head circumference	145873	MESP2	ORPHA:2311
HP:0040194	Increased head circumference	5604	MAP2K1	ORPHA:1340
HP:0040194	Increased head circumference	5605	MAP2K2	ORPHA:1340
HP:0040194	Increased head circumference	1000	CDH2	OMIM:618929
HP:0040194	Increased head circumference	6907	TBL1X	OMIM:301033
HP:0040194	Increased head circumference	3758	KCNJ1	OMIM:241200
HP:0040194	Increased head circumference	91147	TMEM67	ORPHA:1454
HP:0040194	Increased head circumference	23322	RPGRIP1L	ORPHA:1454
HP:0040194	Increased head circumference	57545	CC2D2A	ORPHA:1454
HP:0040194	Increased head circumference	860	RUNX2	ORPHA:1452
HP:0040194	Increased head circumference	139285	AMER1	ORPHA:2780
HP:0040194	Increased head circumference	139285	AMER1	OMIM:300373
HP:0040194	Increased head circumference	57572	DOCK6	OMIM:614219
HP:0040194	Increased head circumference	2313	FLI1	ORPHA:2308
HP:0040194	Increased head circumference	4758	NEU1	ORPHA:93400
HP:0040194	Increased head circumference	3747	KCNC2	OMIM:619913
HP:0040194	Increased head circumference	7204	TRIO	OMIM:618825
HP:0040194	Increased head circumference	4337	MOCS1	OMIM:252150
HP:0040194	Increased head circumference	4659	PPP1R12A	OMIM:618820
HP:0040194	Increased head circumference	91461	PKDCC	OMIM:618821
HP:0040194	Increased head circumference	8905	AP1S2	ORPHA:1568
HP:0040194	Increased head circumference	23209	MLC1	OMIM:604004
HP:0040194	Increased head circumference	6911	TBX6	ORPHA:1797
HP:0040194	Increased head circumference	57688	ZSWIM6	OMIM:617865
HP:0040194	Increased head circumference	1806	DPYD	ORPHA:1675
HP:0040194	Increased head circumference	1806	DPYD	ORPHA:293948
HP:0040194	Increased head circumference	10522	DEAF1	ORPHA:468620
HP:0040194	Increased head circumference	5879	RAC1	OMIM:617751
HP:0040194	Increased head circumference	5879	RAC1	ORPHA:500159
HP:0040194	Increased head circumference	10020	GNE	OMIM:269921
HP:0040194	Increased head circumference	51317	PHF21A	OMIM:618725
HP:0040194	Increased head circumference	2990	GUSB	OMIM:253220
HP:0040194	Increased head circumference	8243	SMC1A	ORPHA:220386
HP:0040194	Increased head circumference	55315	SLC29A3	ORPHA:1782
HP:0040194	Increased head circumference	8777	MPDZ	OMIM:615219
HP:0040194	Increased head circumference	51684	SUFU	OMIM:617757
HP:0040194	Increased head circumference	8139	GAN	OMIM:256850
HP:0040194	Increased head circumference	37	ACADVL	ORPHA:26793
HP:0040194	Increased head circumference	4204	MECP2	OMIM:300260
HP:0040194	Increased head circumference	23102	TBC1D2B	ORPHA:397973
HP:0040194	Increased head circumference	10464	PIBF1	OMIM:617767
HP:0040194	Increased head circumference	10736	SIX2	ORPHA:488437
HP:0040194	Increased head circumference	2108	ETFA	OMIM:231680
HP:0040194	Increased head circumference	2109	ETFB	OMIM:231680
HP:0040194	Increased head circumference	2110	ETFDH	OMIM:231680
HP:0040194	Increased head circumference	4724	NDUFS4	OMIM:252010
HP:0040194	Increased head circumference	2670	GFAP	OMIM:203450
HP:0040194	Increased head circumference	2670	GFAP	ORPHA:363717
HP:0040194	Increased head circumference	5290	PIK3CA	OMIM:615108
HP:0040194	Increased head circumference	5290	PIK3CA	OMIM:602501
HP:0040194	Increased head circumference	207	AKT1	OMIM:615109
HP:0040194	Increased head circumference	3074	HEXB	ORPHA:309155
HP:0040194	Increased head circumference	1718	DHCR24	OMIM:602398
HP:0040194	Increased head circumference	9791	PTDSS1	OMIM:151050
HP:0040194	Increased head circumference	8450	CUL4B	OMIM:300354
HP:0040194	Increased head circumference	8036	SHOC2	OMIM:607721
HP:0040194	Increased head circumference	7874	USP7	ORPHA:500055
HP:0040194	Increased head circumference	324	APC	ORPHA:261584
HP:0040194	Increased head circumference	28981	IFT81	OMIM:617895
HP:0040194	Increased head circumference	8216	LZTR1	OMIM:616564
HP:0040194	Increased head circumference	8216	LZTR1	OMIM:605275
HP:0040194	Increased head circumference	3481	IGF2	OMIM:616489
HP:0040194	Increased head circumference	3481	IGF2	ORPHA:231140
HP:0040194	Increased head circumference	3481	IGF2	ORPHA:231144
HP:0040194	Increased head circumference	3481	IGF2	ORPHA:397590
HP:0040194	Increased head circumference	6016	RIT1	OMIM:615355
HP:0040194	Increased head circumference	23314	SATB2	ORPHA:251028
HP:0040194	Increased head circumference	673	BRAF	OMIM:115150
HP:0040194	Increased head circumference	23363	OBSL1	OMIM:612921
HP:0040194	Increased head circumference	4796	TONSL	ORPHA:93357
HP:0040194	Increased head circumference	4796	TONSL	OMIM:271510
HP:0040194	Increased head circumference	8091	HMGA2	OMIM:618908
HP:0040194	Increased head circumference	8091	HMGA2	ORPHA:397590
HP:0040194	Increased head circumference	2887	GRB10	ORPHA:96182
HP:0040194	Increased head circumference	4000	LMNA	ORPHA:740
HP:0040194	Increased head circumference	10269	ZMPSTE24	ORPHA:740
HP:0040194	Increased head circumference	283120	H19	ORPHA:231140
HP:0040194	Increased head circumference	283120	H19	ORPHA:231144
HP:0040194	Increased head circumference	9321	TRIP11	OMIM:184260
HP:0040194	Increased head circumference	388015	RTL1	ORPHA:254525
HP:0040194	Increased head circumference	8788	DLK1	ORPHA:254525
HP:0040194	Increased head circumference	55384	MEG3	ORPHA:254525
HP:0040194	Increased head circumference	6651	SON	OMIM:617140
HP:0040194	Increased head circumference	6651	SON	ORPHA:500150
HP:0040194	Increased head circumference	83737	ITCH	OMIM:613385
HP:0040194	Increased head circumference	83737	ITCH	ORPHA:228426
HP:0040194	Increased head circumference	28952	CCDC22	OMIM:300963
HP:0040194	Increased head circumference	1028	CDKN1C	ORPHA:397590
HP:0040194	Increased head circumference	5324	PLAG1	ORPHA:397590
HP:0040194	Increased head circumference	8239	USP9X	OMIM:300919
HP:0040194	Increased head circumference	5500	PPP1CB	OMIM:617506
HP:0040194	Increased head circumference	4763	NF1	OMIM:193520
HP:0040194	Increased head circumference	6662	SOX9	OMIM:114290
HP:0040194	Increased head circumference	176	ACAN	ORPHA:171866
HP:0040194	Increased head circumference	176	ACAN	OMIM:612813
HP:0040194	Increased head circumference	4286	MITF	OMIM:617306
HP:0040194	Increased head circumference	9968	MED12	OMIM:305450
HP:0040194	Increased head circumference	3911	LAMA5	OMIM:620076
HP:0040194	Increased head circumference	11128	POLR3A	ORPHA:3455
HP:0040194	Increased head circumference	57231	SNX14	ORPHA:397709
HP:0040194	Increased head circumference	57231	SNX14	OMIM:616354
HP:0040194	Increased head circumference	2271	FH	OMIM:606812
HP:0040194	Increased head circumference	57020	VPS35L	OMIM:619135
HP:0040194	Increased head circumference	10940	POP1	OMIM:617396
HP:0040194	Increased head circumference	153241	CEP120	OMIM:616300
HP:0040194	Increased head circumference	64359	NXN	OMIM:618529
HP:0040194	Increased head circumference	5426	POLE	OMIM:615139
HP:0040194	Increased head circumference	5426	POLE	OMIM:618336
HP:0040194	Increased head circumference	64131	XYLT1	OMIM:615777
HP:0040194	Increased head circumference	64131	XYLT1	ORPHA:370930
HP:0040194	Increased head circumference	1795	DOCK3	OMIM:618292
HP:0040194	Increased head circumference	4982	TNFRSF11B	OMIM:239000
HP:0040194	Increased head circumference	7703	PCGF2	OMIM:618371
HP:0040194	Increased head circumference	3549	IHH	OMIM:607778
HP:0040194	Increased head circumference	633	BGN	OMIM:300989
HP:0040194	Increased head circumference	22808	MRAS	OMIM:618499
HP:0040194	Increased head circumference	55331	ACER3	OMIM:617762
HP:0040194	Increased head circumference	7067	THRA	OMIM:614450
HP:0040194	Increased head circumference	3930	LBR	OMIM:618019
HP:0040194	Increased head circumference	871	SERPINH1	OMIM:613848
HP:0040194	Increased head circumference	1801	DPH1	ORPHA:459061
HP:0040194	Increased head circumference	6567	SLC16A2	ORPHA:59
HP:0040194	Increased head circumference	4953	ODC1	OMIM:619075
HP:0040194	Increased head circumference	23556	PIGN	ORPHA:280633
HP:0040194	Increased head circumference	274	BIN1	ORPHA:169189
HP:0040194	Increased head circumference	64419	MTMR14	ORPHA:169189
HP:0040194	Increased head circumference	4618	MYF6	ORPHA:169189
HP:0040194	Increased head circumference	1785	DNM2	ORPHA:169189
HP:0040194	Increased head circumference	6261	RYR1	ORPHA:169189
HP:0040194	Increased head circumference	54914	FOCAD	OMIM:619991
HP:0040194	Increased head circumference	2782	GNB1	OMIM:616973
HP:0040194	Increased head circumference	5058	PAK1	OMIM:618158
HP:0040194	Increased head circumference	63901	FAM111A	ORPHA:93325
HP:0040194	Increased head circumference	8738	CRADD	OMIM:614499
HP:0040194	Increased head circumference	2639	GCDH	ORPHA:25
HP:0040194	Increased head circumference	8792	TNFRSF11A	OMIM:612301
HP:0040194	Increased head circumference	84992	PIGY	ORPHA:247262
HP:0040194	Increased head circumference	84720	PIGO	ORPHA:247262
HP:0040194	Increased head circumference	93210	PGAP3	ORPHA:247262
HP:0040194	Increased head circumference	284098	PIGW	ORPHA:247262
HP:0040194	Increased head circumference	27315	PGAP2	ORPHA:247262
HP:0040194	Increased head circumference	55650	PIGV	ORPHA:247262
HP:0040194	Increased head circumference	9487	PIGL	ORPHA:247262
HP:0040194	Increased head circumference	1280	COL2A1	ORPHA:94068
HP:0040194	Increased head circumference	2581	GALC	ORPHA:206436
HP:0040194	Increased head circumference	5660	PSAP	ORPHA:206436
HP:0040194	Increased head circumference	4841	NONO	OMIM:300967
HP:0040194	Increased head circumference	5277	PIGA	OMIM:300868
HP:0040194	Increased head circumference	9289	ADGRG1	ORPHA:101070
HP:0040194	Increased head circumference	5728	PTEN	ORPHA:101070
HP:0040194	Increased head circumference	64324	NSD1	ORPHA:821
HP:0040194	Increased head circumference	29072	SETD2	ORPHA:821
HP:0040194	Increased head circumference	10297	APC2	ORPHA:821
HP:0040195	Decreased head circumference	1718	DHCR24	OMIM:602398
HP:0040195	Decreased head circumference	1718	DHCR24	ORPHA:35107
HP:0040195	Decreased head circumference	4524	MTHFR	ORPHA:395
HP:0040195	Decreased head circumference	4524	MTHFR	OMIM:236250
HP:0040195	Decreased head circumference	23394	ADNP	ORPHA:404448
HP:0040195	Decreased head circumference	51399	TRAPPC4	OMIM:618741
HP:0040195	Decreased head circumference	1139	CHRNA7	ORPHA:199318
HP:0040195	Decreased head circumference	51569	UFM1	OMIM:617899
HP:0040195	Decreased head circumference	10059	DNM1L	OMIM:614388
HP:0040195	Decreased head circumference	6228	RPS23	OMIM:617412
HP:0040195	Decreased head circumference	7360	UGP2	OMIM:618744
HP:0040195	Decreased head circumference	5932	RBBP8	OMIM:606744
HP:0040195	Decreased head circumference	5932	RBBP8	ORPHA:808
HP:0040195	Decreased head circumference	2073	ERCC5	OMIM:616570
HP:0040195	Decreased head circumference	2073	ERCC5	ORPHA:1466
HP:0040195	Decreased head circumference	2073	ERCC5	ORPHA:220295
HP:0040195	Decreased head circumference	2073	ERCC5	OMIM:278780
HP:0040195	Decreased head circumference	2073	ERCC5	ORPHA:910
HP:0040195	Decreased head circumference	283489	CHAMP1	OMIM:616579
HP:0040195	Decreased head circumference	478	ATP1A3	OMIM:619606
HP:0040195	Decreased head circumference	478	ATP1A3	ORPHA:442835
HP:0040195	Decreased head circumference	166378	AFG2A	OMIM:616577
HP:0040195	Decreased head circumference	477	ATP1A2	OMIM:619602
HP:0040195	Decreased head circumference	477	ATP1A2	ORPHA:442835
HP:0040195	Decreased head circumference	6595	SMARCA2	ORPHA:2728
HP:0040195	Decreased head circumference	6595	SMARCA2	OMIM:601358
HP:0040195	Decreased head circumference	6595	SMARCA2	ORPHA:3051
HP:0040195	Decreased head circumference	84520	GON7	OMIM:619603
HP:0040195	Decreased head circumference	79693	YRDC	OMIM:619609
HP:0040195	Decreased head circumference	5832	ALDH18A1	OMIM:616586
HP:0040195	Decreased head circumference	5832	ALDH18A1	ORPHA:90348
HP:0040195	Decreased head circumference	5832	ALDH18A1	ORPHA:447760
HP:0040195	Decreased head circumference	5832	ALDH18A1	OMIM:616603
HP:0040195	Decreased head circumference	6884	TAF13	OMIM:617432
HP:0040195	Decreased head circumference	6884	TAF13	ORPHA:2512
HP:0040195	Decreased head circumference	79029	AFG2B	OMIM:619616
HP:0040195	Decreased head circumference	10111	RAD50	OMIM:613078
HP:0040195	Decreased head circumference	55681	SCYL2	OMIM:618766
HP:0040195	Decreased head circumference	85465	SELENOI	OMIM:618768
HP:0040195	Decreased head circumference	85465	SELENOI	ORPHA:506353
HP:0040195	Decreased head circumference	5191	PEX7	OMIM:215100
HP:0040195	Decreased head circumference	3339	HSPG2	ORPHA:1865
HP:0040195	Decreased head circumference	3339	HSPG2	OMIM:224410
HP:0040195	Decreased head circumference	3339	HSPG2	ORPHA:800
HP:0040195	Decreased head circumference	3339	HSPG2	ORPHA:1606
HP:0040195	Decreased head circumference	171023	ASXL1	ORPHA:97297
HP:0040195	Decreased head circumference	171023	ASXL1	OMIM:605039
HP:0040195	Decreased head circumference	5813	PURA	ORPHA:438216
HP:0040195	Decreased head circumference	89910	UBE3B	ORPHA:2707
HP:0040195	Decreased head circumference	89910	UBE3B	OMIM:244450
HP:0040195	Decreased head circumference	5373	PMM2	OMIM:212065
HP:0040195	Decreased head circumference	1499	CTNNB1	ORPHA:404473
HP:0040195	Decreased head circumference	1499	CTNNB1	ORPHA:891
HP:0040195	Decreased head circumference	55131	RBM28	ORPHA:157954
HP:0040195	Decreased head circumference	55131	RBM28	OMIM:612079
HP:0040195	Decreased head circumference	2072	ERCC4	OMIM:615272
HP:0040195	Decreased head circumference	2072	ERCC4	ORPHA:84
HP:0040195	Decreased head circumference	2072	ERCC4	ORPHA:220295
HP:0040195	Decreased head circumference	2072	ERCC4	OMIM:610965
HP:0040195	Decreased head circumference	2072	ERCC4	ORPHA:910
HP:0040195	Decreased head circumference	2072	ERCC4	OMIM:278760
HP:0040195	Decreased head circumference	55768	NGLY1	OMIM:615273
HP:0040195	Decreased head circumference	55621	TRMT1	OMIM:618302
HP:0040195	Decreased head circumference	6905	TBCE	OMIM:241410
HP:0040195	Decreased head circumference	6905	TBCE	ORPHA:2323
HP:0040195	Decreased head circumference	6905	TBCE	ORPHA:93324
HP:0040195	Decreased head circumference	51633	OTUD6B	OMIM:617452
HP:0040195	Decreased head circumference	51633	OTUD6B	ORPHA:505237
HP:0040195	Decreased head circumference	9289	ADGRG1	ORPHA:101070
HP:0040195	Decreased head circumference	9289	ADGRG1	ORPHA:98889
HP:0040195	Decreased head circumference	5728	PTEN	ORPHA:101070
HP:0040195	Decreased head circumference	5727	PTCH1	OMIM:610828
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:280195
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:220386
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:280200
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:93926
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:93924
HP:0040195	Decreased head circumference	5727	PTCH1	ORPHA:93925
HP:0040195	Decreased head circumference	2736	GLI2	OMIM:610829
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:280195
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:220386
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:280200
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:93926
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:93924
HP:0040195	Decreased head circumference	2736	GLI2	ORPHA:93925
HP:0040195	Decreased head circumference	79718	TBL1XR1	OMIM:602342
HP:0040195	Decreased head circumference	54828	BCAS3	OMIM:619641
HP:0040195	Decreased head circumference	6305	SBF1	OMIM:615284
HP:0040195	Decreased head circumference	3800	KIF5C	OMIM:615282
HP:0040195	Decreased head circumference	2232	FDXR	ORPHA:543470
HP:0040195	Decreased head circumference	7358	UGDH	OMIM:618792
HP:0040195	Decreased head circumference	113179	ADAT3	OMIM:615286
HP:0040195	Decreased head circumference	113179	ADAT3	ORPHA:363528
HP:0040195	Decreased head circumference	2904	GRIN2B	OMIM:616139
HP:0040195	Decreased head circumference	2904	GRIN2B	OMIM:613970
HP:0040195	Decreased head circumference	200424	TET3	OMIM:618798
HP:0040195	Decreased head circumference	79971	WLS	OMIM:619648
HP:0040195	Decreased head circumference	79728	PALB2	OMIM:610832
HP:0040195	Decreased head circumference	79728	PALB2	ORPHA:84
HP:0040195	Decreased head circumference	56975	FAM20C	ORPHA:1832
HP:0040195	Decreased head circumference	56975	FAM20C	OMIM:259775
HP:0040195	Decreased head circumference	5917	RARS1	OMIM:616140
HP:0040195	Decreased head circumference	5917	RARS1	ORPHA:438114
HP:0040195	Decreased head circumference	54916	TMEM260	OMIM:617478
HP:0040195	Decreased head circumference	25836	NIPBL	OMIM:122470
HP:0040195	Decreased head circumference	25836	NIPBL	ORPHA:199
HP:0040195	Decreased head circumference	23499	MACF1	OMIM:618325
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	ORPHA:1824
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	ORPHA:353298
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	OMIM:226960
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	OMIM:210710
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	OMIM:616651
HP:0040195	Decreased head circumference	100151683	RNU4ATAC	ORPHA:2636
HP:0040195	Decreased head circumference	58497	PRUNE1	OMIM:617481
HP:0040195	Decreased head circumference	58497	PRUNE1	ORPHA:544469
HP:0040195	Decreased head circumference	120	ADD3	OMIM:617008
HP:0040195	Decreased head circumference	5426	POLE	OMIM:618336
HP:0040195	Decreased head circumference	3480	IGF1R	ORPHA:73273
HP:0040195	Decreased head circumference	3480	IGF1R	OMIM:270450
HP:0040195	Decreased head circumference	3479	IGF1	ORPHA:73272
HP:0040195	Decreased head circumference	3479	IGF1	OMIM:608747
HP:0040195	Decreased head circumference	3155	HMGCL	ORPHA:20
HP:0040195	Decreased head circumference	3155	HMGCL	OMIM:246450
HP:0040195	Decreased head circumference	2775	GNAO1	OMIM:617493
HP:0040195	Decreased head circumference	2775	GNAO1	ORPHA:1934
HP:0040195	Decreased head circumference	10785	WDR4	OMIM:618346
HP:0040195	Decreased head circumference	10785	WDR4	OMIM:618347
HP:0040195	Decreased head circumference	10785	WDR4	ORPHA:2065
HP:0040195	Decreased head circumference	4598	MVK	ORPHA:29
HP:0040195	Decreased head circumference	4598	MVK	OMIM:610377
HP:0040195	Decreased head circumference	54517	PUS7	OMIM:618342
HP:0040195	Decreased head circumference	1798	DPAGT1	OMIM:608093
HP:0040195	Decreased head circumference	1798	DPAGT1	ORPHA:86309
HP:0040195	Decreased head circumference	57122	NUP107	OMIM:618348
HP:0040195	Decreased head circumference	57122	NUP107	ORPHA:243
HP:0040195	Decreased head circumference	57122	NUP107	ORPHA:2065
HP:0040195	Decreased head circumference	55746	NUP133	OMIM:618349
HP:0040195	Decreased head circumference	55746	NUP133	ORPHA:2065
HP:0040195	Decreased head circumference	56623	INPP5E	OMIM:213300
HP:0040195	Decreased head circumference	56945	MRPS22	OMIM:611719
HP:0040195	Decreased head circumference	56945	MRPS22	ORPHA:243
HP:0040195	Decreased head circumference	27125	AFF4	ORPHA:444077
HP:0040195	Decreased head circumference	27125	AFF4	OMIM:616368
HP:0040195	Decreased head circumference	5575	PRKAR1B	OMIM:619680
HP:0040195	Decreased head circumference	10733	PLK4	OMIM:616171
HP:0040195	Decreased head circumference	10733	PLK4	ORPHA:808
HP:0040195	Decreased head circumference	10733	PLK4	ORPHA:2518
HP:0040195	Decreased head circumference	2972	BRF1	ORPHA:444072
HP:0040195	Decreased head circumference	2972	BRF1	OMIM:616202
HP:0040195	Decreased head circumference	5515	PPP2CA	OMIM:618354
HP:0040195	Decreased head circumference	23114	NFASC	OMIM:618356
HP:0040195	Decreased head circumference	154881	KCTD7	OMIM:611726
HP:0040195	Decreased head circumference	154881	KCTD7	ORPHA:263516
HP:0040195	Decreased head circumference	29925	GMPPB	ORPHA:370968
HP:0040195	Decreased head circumference	29925	GMPPB	ORPHA:370959
HP:0040195	Decreased head circumference	29925	GMPPB	ORPHA:363623
HP:0040195	Decreased head circumference	29925	GMPPB	OMIM:615350
HP:0040195	Decreased head circumference	29925	GMPPB	OMIM:615351
HP:0040195	Decreased head circumference	29925	GMPPB	OMIM:615352
HP:0040195	Decreased head circumference	79147	FKRP	ORPHA:370968
HP:0040195	Decreased head circumference	79147	FKRP	ORPHA:370980
HP:0040195	Decreased head circumference	79147	FKRP	ORPHA:370959
HP:0040195	Decreased head circumference	79147	FKRP	OMIM:606612
HP:0040195	Decreased head circumference	79147	FKRP	OMIM:236670
HP:0040195	Decreased head circumference	79147	FKRP	ORPHA:899
HP:0040195	Decreased head circumference	29954	POMT2	ORPHA:370968
HP:0040195	Decreased head circumference	29954	POMT2	ORPHA:370959
HP:0040195	Decreased head circumference	29954	POMT2	OMIM:236670
HP:0040195	Decreased head circumference	29954	POMT2	ORPHA:899
HP:0040195	Decreased head circumference	29954	POMT2	OMIM:613150
HP:0040195	Decreased head circumference	29954	POMT2	OMIM:613156
HP:0040195	Decreased head circumference	9215	LARGE1	ORPHA:370968
HP:0040195	Decreased head circumference	9215	LARGE1	OMIM:236670
HP:0040195	Decreased head circumference	9215	LARGE1	ORPHA:899
HP:0040195	Decreased head circumference	10585	POMT1	ORPHA:370968
HP:0040195	Decreased head circumference	10585	POMT1	ORPHA:370980
HP:0040195	Decreased head circumference	10585	POMT1	ORPHA:370959
HP:0040195	Decreased head circumference	10585	POMT1	OMIM:609308
HP:0040195	Decreased head circumference	10585	POMT1	OMIM:236670
HP:0040195	Decreased head circumference	10585	POMT1	ORPHA:899
HP:0040195	Decreased head circumference	10585	POMT1	ORPHA:86812
HP:0040195	Decreased head circumference	10585	POMT1	OMIM:613155
HP:0040195	Decreased head circumference	55777	MBD5	OMIM:156200
HP:0040195	Decreased head circumference	55777	MBD5	ORPHA:228402
HP:0040195	Decreased head circumference	347733	TUBB2B	ORPHA:467166
HP:0040195	Decreased head circumference	347733	TUBB2B	ORPHA:300573
HP:0040195	Decreased head circumference	347733	TUBB2B	OMIM:610031
HP:0040195	Decreased head circumference	7846	TUBA1A	ORPHA:467166
HP:0040195	Decreased head circumference	7846	TUBA1A	OMIM:611603
HP:0040195	Decreased head circumference	7846	TUBA1A	ORPHA:171680
HP:0040195	Decreased head circumference	10381	TUBB3	ORPHA:467166
HP:0040195	Decreased head circumference	10381	TUBB3	OMIM:614039
HP:0040195	Decreased head circumference	84340	GFM2	ORPHA:565624
HP:0040195	Decreased head circumference	84340	GFM2	OMIM:618397
HP:0040195	Decreased head circumference	10588	MTHFS	OMIM:618367
HP:0040195	Decreased head circumference	22930	RAB3GAP1	OMIM:600118
HP:0040195	Decreased head circumference	22930	RAB3GAP1	OMIM:619420
HP:0040195	Decreased head circumference	22930	RAB3GAP1	ORPHA:2510
HP:0040195	Decreased head circumference	22930	RAB3GAP1	ORPHA:1387
HP:0040195	Decreased head circumference	2334	AFF2	OMIM:309548
HP:0040195	Decreased head circumference	92255	LMBRD2	OMIM:619694
HP:0040195	Decreased head circumference	7468	NSD2	OMIM:619695
HP:0040195	Decreased head circumference	7468	NSD2	OMIM:194190
HP:0040195	Decreased head circumference	7468	NSD2	ORPHA:280
HP:0040195	Decreased head circumference	267010	RNU12	OMIM:620208
HP:0040195	Decreased head circumference	3054	HCFC1	OMIM:309541
HP:0040195	Decreased head circumference	201163	FLCN	OMIM:610883
HP:0040195	Decreased head circumference	2019	EN1	OMIM:619218
HP:0040195	Decreased head circumference	3431	SP110	OMIM:235550
HP:0040195	Decreased head circumference	3431	SP110	ORPHA:79124
HP:0040195	Decreased head circumference	51608	GET4	OMIM:620200
HP:0040195	Decreased head circumference	7703	PCGF2	OMIM:618371
HP:0040195	Decreased head circumference	23111	SPART	ORPHA:101000
HP:0040195	Decreased head circumference	6390	SDHB	OMIM:619224
HP:0040195	Decreased head circumference	11342	RNF13	OMIM:618379
HP:0040195	Decreased head circumference	11342	RNF13	ORPHA:544503
HP:0040195	Decreased head circumference	8802	SUCLG1	ORPHA:17
HP:0040195	Decreased head circumference	4613	MYCN	OMIM:164280
HP:0040195	Decreased head circumference	4613	MYCN	ORPHA:391641
HP:0040195	Decreased head circumference	51729	WBP11	OMIM:619227
HP:0040195	Decreased head circumference	6304	SATB1	OMIM:619228
HP:0040195	Decreased head circumference	6304	SATB1	OMIM:619229
HP:0040195	Decreased head circumference	2218	FKTN	ORPHA:370980
HP:0040195	Decreased head circumference	2218	FKTN	OMIM:236670
HP:0040195	Decreased head circumference	2218	FKTN	ORPHA:899
HP:0040195	Decreased head circumference	729920	CRPPA	ORPHA:370980
HP:0040195	Decreased head circumference	729920	CRPPA	ORPHA:899
HP:0040195	Decreased head circumference	2697	GJA1	ORPHA:317
HP:0040195	Decreased head circumference	2697	GJA1	OMIM:164200
HP:0040195	Decreased head circumference	2707	GJB3	ORPHA:317
HP:0040195	Decreased head circumference	2531	KDSR	ORPHA:317
HP:0040195	Decreased head circumference	127534	GJB4	ORPHA:317
HP:0040195	Decreased head circumference	3028	HSD17B10	ORPHA:391428
HP:0040195	Decreased head circumference	8943	AP3D1	OMIM:617050
HP:0040195	Decreased head circumference	9757	KMT2B	ORPHA:589618
HP:0040195	Decreased head circumference	9757	KMT2B	OMIM:619934
HP:0040195	Decreased head circumference	9757	KMT2B	OMIM:617284
HP:0040195	Decreased head circumference	84265	POLR3GL	OMIM:619234
HP:0040195	Decreased head circumference	134218	DNAJC21	OMIM:617052
HP:0040195	Decreased head circumference	27107	ZBTB11	OMIM:618383
HP:0040195	Decreased head circumference	8452	CUL3	OMIM:619239
HP:0040195	Decreased head circumference	6608	SMO	OMIM:241800
HP:0040195	Decreased head circumference	55624	POMGNT1	ORPHA:370959
HP:0040195	Decreased head circumference	55624	POMGNT1	OMIM:253280
HP:0040195	Decreased head circumference	55624	POMGNT1	ORPHA:899
HP:0040195	Decreased head circumference	55624	POMGNT1	OMIM:613151
HP:0040195	Decreased head circumference	51360	MBTPS2	OMIM:308205
HP:0040195	Decreased head circumference	51360	MBTPS2	ORPHA:85284
HP:0040195	Decreased head circumference	51360	MBTPS2	ORPHA:2273
HP:0040195	Decreased head circumference	1457	CSNK2A1	OMIM:617062
HP:0040195	Decreased head circumference	7204	TRIO	OMIM:617061
HP:0040195	Decreased head circumference	203068	TUBB	OMIM:156610
HP:0040195	Decreased head circumference	203068	TUBB	ORPHA:2505
HP:0040195	Decreased head circumference	55640	FLVCR2	OMIM:225790
HP:0040195	Decreased head circumference	23112	TNRC6B	OMIM:619243
HP:0040195	Decreased head circumference	91875	TTC5	OMIM:619244
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:280195
HP:0040195	Decreased head circumference	28514	DLL1	OMIM:618709
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:220386
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:280200
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:93926
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:93924
HP:0040195	Decreased head circumference	28514	DLL1	ORPHA:93925
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:280195
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:220386
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:280200
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:93926
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:93924
HP:0040195	Decreased head circumference	2253	FGF8	ORPHA:93925
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:280195
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:220386
HP:0040195	Decreased head circumference	6496	SIX3	OMIM:157170
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:280200
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:93926
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:93924
HP:0040195	Decreased head circumference	6496	SIX3	ORPHA:93925
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:280195
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:220386
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:280200
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:93926
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:93924
HP:0040195	Decreased head circumference	7050	TGIF1	ORPHA:93925
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:280195
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:220386
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:280200
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:93926
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:93924
HP:0040195	Decreased head circumference	4838	NODAL	ORPHA:93925
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:280195
HP:0040195	Decreased head circumference	6469	SHH	OMIM:142945
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:220386
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:280200
HP:0040195	Decreased head circumference	6469	SHH	OMIM:147250
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:93926
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:93924
HP:0040195	Decreased head circumference	6469	SHH	ORPHA:93925
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:280195
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:220386
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:280200
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:93926
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:93924
HP:0040195	Decreased head circumference	7546	ZIC2	ORPHA:93925
HP:0040195	Decreased head circumference	7546	ZIC2	OMIM:609637
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:280195
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:220386
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:93926
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:93924
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:93925
HP:0040195	Decreased head circumference	6491	STIL	ORPHA:2512
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:280195
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:220386
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:280200
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:93926
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:93924
HP:0040195	Decreased head circumference	2619	GAS1	ORPHA:93925
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:280195
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:220386
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:280200
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:93926
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:93924
HP:0040195	Decreased head circumference	84976	DISP1	ORPHA:93925
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:280195
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:220386
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:280200
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:93926
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:93924
HP:0040195	Decreased head circumference	8928	FOXH1	ORPHA:93925
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:280195
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:220386
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:280200
HP:0040195	Decreased head circumference	50937	CDON	OMIM:614226
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:93926
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:93924
HP:0040195	Decreased head circumference	50937	CDON	ORPHA:93925
HP:0040195	Decreased head circumference	8450	CUL4B	ORPHA:85293
HP:0040195	Decreased head circumference	55717	WDR11	OMIM:620237
HP:0040195	Decreased head circumference	93587	TRMT10A	ORPHA:391408
HP:0040195	Decreased head circumference	93587	TRMT10A	OMIM:616033
HP:0040195	Decreased head circumference	84919	PPP1R15B	ORPHA:391408
HP:0040195	Decreased head circumference	84919	PPP1R15B	OMIM:616817
HP:0040195	Decreased head circumference	201595	STT3B	ORPHA:370924
HP:0040195	Decreased head circumference	201595	STT3B	OMIM:615597
HP:0040195	Decreased head circumference	10436	EMG1	OMIM:211180
HP:0040195	Decreased head circumference	10436	EMG1	ORPHA:1270
HP:0040195	Decreased head circumference	6748	SSR4	ORPHA:370927
HP:0040195	Decreased head circumference	6748	SSR4	OMIM:300934
HP:0040195	Decreased head circumference	10084	PQBP1	OMIM:309500
HP:0040195	Decreased head circumference	10084	PQBP1	ORPHA:93950
HP:0040195	Decreased head circumference	10084	PQBP1	ORPHA:93946
HP:0040195	Decreased head circumference	10084	PQBP1	ORPHA:93947
HP:0040195	Decreased head circumference	10479	SLC9A6	ORPHA:85278
HP:0040195	Decreased head circumference	10479	SLC9A6	OMIM:300243
HP:0040195	Decreased head circumference	8242	KDM5C	ORPHA:85279
HP:0040195	Decreased head circumference	8242	KDM5C	OMIM:300534
HP:0040195	Decreased head circumference	1315	COPB1	OMIM:619255
HP:0040195	Decreased head circumference	89970	RSPRY1	ORPHA:457395
HP:0040195	Decreased head circumference	89970	RSPRY1	OMIM:616723
HP:0040195	Decreased head circumference	8831	SYNGAP1	OMIM:612621
HP:0040195	Decreased head circumference	8831	SYNGAP1	ORPHA:442835
HP:0040195	Decreased head circumference	8831	SYNGAP1	ORPHA:1942
HP:0040195	Decreased head circumference	8831	SYNGAP1	ORPHA:544254
HP:0040195	Decreased head circumference	54187	NANS	OMIM:610442
HP:0040195	Decreased head circumference	84464	SLX4	OMIM:613951
HP:0040195	Decreased head circumference	84464	SLX4	ORPHA:84
HP:0040195	Decreased head circumference	284058	KANSL1	OMIM:610443
HP:0040195	Decreased head circumference	284058	KANSL1	ORPHA:363958
HP:0040195	Decreased head circumference	284058	KANSL1	ORPHA:363965
HP:0040195	Decreased head circumference	1968	EIF2S3	ORPHA:85282
HP:0040195	Decreased head circumference	1968	EIF2S3	OMIM:300148
HP:0040195	Decreased head circumference	81615	TMEM163	OMIM:620243
HP:0040195	Decreased head circumference	64131	XYLT1	ORPHA:370930
HP:0040195	Decreased head circumference	64131	XYLT1	OMIM:615777
HP:0040195	Decreased head circumference	116150	NUS1	OMIM:617082
HP:0040195	Decreased head circumference	116150	NUS1	ORPHA:442835
HP:0040195	Decreased head circumference	55181	SMG8	OMIM:619268
HP:0040195	Decreased head circumference	25886	POC1A	OMIM:614813
HP:0040195	Decreased head circumference	3516	RBPJ	OMIM:614814
HP:0040195	Decreased head circumference	5138	PDE2A	OMIM:619150
HP:0040195	Decreased head circumference	128	ADH5	OMIM:619151
HP:0040195	Decreased head circumference	64374	SIL1	OMIM:248800
HP:0040195	Decreased head circumference	64374	SIL1	ORPHA:559
HP:0040195	Decreased head circumference	6535	SLC6A8	OMIM:300352
HP:0040195	Decreased head circumference	6535	SLC6A8	ORPHA:52503
HP:0040195	Decreased head circumference	26960	NBEA	OMIM:619157
HP:0040195	Decreased head circumference	6309	SC5D	ORPHA:46059
HP:0040195	Decreased head circumference	6309	SC5D	OMIM:607330
HP:0040195	Decreased head circumference	26128	KIFBP	OMIM:609460
HP:0040195	Decreased head circumference	26128	KIFBP	ORPHA:66629
HP:0040195	Decreased head circumference	5885	RAD21	OMIM:614701
HP:0040195	Decreased head circumference	5885	RAD21	ORPHA:199
HP:0040195	Decreased head circumference	781	CACNA2D1	OMIM:620149
HP:0040195	Decreased head circumference	781	CACNA2D1	ORPHA:442835
HP:0040195	Decreased head circumference	7518	XRCC4	ORPHA:99812
HP:0040195	Decreased head circumference	7518	XRCC4	OMIM:616541
HP:0040195	Decreased head circumference	3981	LIG4	ORPHA:99812
HP:0040195	Decreased head circumference	3981	LIG4	ORPHA:235
HP:0040195	Decreased head circumference	3981	LIG4	OMIM:606593
HP:0040195	Decreased head circumference	80144	FRAS1	OMIM:219000
HP:0040195	Decreased head circumference	80144	FRAS1	ORPHA:2052
HP:0040195	Decreased head circumference	10093	ARPC4	OMIM:620141
HP:0040195	Decreased head circumference	4784	NFIX	ORPHA:447980
HP:0040195	Decreased head circumference	613	BCR	ORPHA:261330
HP:0040195	Decreased head circumference	1399	CRKL	ORPHA:261330
HP:0040195	Decreased head circumference	5594	MAPK1	ORPHA:261330
HP:0040195	Decreased head circumference	5594	MAPK1	OMIM:619087
HP:0040195	Decreased head circumference	9640	ZNF592	ORPHA:83472
HP:0040195	Decreased head circumference	84942	WDR73	ORPHA:83472
HP:0040195	Decreased head circumference	84942	WDR73	ORPHA:2065
HP:0040195	Decreased head circumference	84942	WDR73	OMIM:251300
HP:0040195	Decreased head circumference	224	ALDH3A2	ORPHA:816
HP:0040195	Decreased head circumference	2314	FLII	ORPHA:819
HP:0040195	Decreased head circumference	10743	RAI1	ORPHA:819
HP:0040195	Decreased head circumference	10743	RAI1	ORPHA:1713
HP:0040195	Decreased head circumference	10522	DEAF1	ORPHA:819
HP:0040195	Decreased head circumference	10522	DEAF1	ORPHA:468620
HP:0040195	Decreased head circumference	1717	DHCR7	ORPHA:818
HP:0040195	Decreased head circumference	1717	DHCR7	OMIM:270400
HP:0040195	Decreased head circumference	29072	SETD2	OMIM:620157
HP:0040195	Decreased head circumference	29072	SETD2	OMIM:620155
HP:0040195	Decreased head circumference	150468	CKAP2L	ORPHA:3255
HP:0040195	Decreased head circumference	150468	CKAP2L	OMIM:272440
HP:0040195	Decreased head circumference	3242	HPD	OMIM:140350
HP:0040195	Decreased head circumference	338657	CENATAC	OMIM:620153
HP:0040195	Decreased head circumference	25778	DSTYK	OMIM:270750
HP:0040195	Decreased head circumference	25839	COG4	ORPHA:263501
HP:0040195	Decreased head circumference	25839	COG4	OMIM:613489
HP:0040195	Decreased head circumference	25839	COG4	ORPHA:85172
HP:0040195	Decreased head circumference	56992	KIF15	ORPHA:261323
HP:0040195	Decreased head circumference	56992	KIF15	OMIM:619981
HP:0040195	Decreased head circumference	4718	NDUFC2	OMIM:619170
HP:0040195	Decreased head circumference	1738	DLD	ORPHA:2394
HP:0040195	Decreased head circumference	1738	DLD	OMIM:246900
HP:0040195	Decreased head circumference	4001	LMNB1	OMIM:619179
HP:0040195	Decreased head circumference	4001	LMNB1	ORPHA:2514
HP:0040195	Decreased head circumference	92579	G6PC3	OMIM:612541
HP:0040195	Decreased head circumference	93627	TBCK	OMIM:616900
HP:0040195	Decreased head circumference	93627	TBCK	ORPHA:488632
HP:0040195	Decreased head circumference	672	BRCA1	ORPHA:84
HP:0040195	Decreased head circumference	672	BRCA1	OMIM:617883
HP:0040195	Decreased head circumference	10459	MAD2L2	ORPHA:84
HP:0040195	Decreased head circumference	10459	MAD2L2	OMIM:617243
HP:0040195	Decreased head circumference	7516	XRCC2	ORPHA:84
HP:0040195	Decreased head circumference	7516	XRCC2	OMIM:617247
HP:0040195	Decreased head circumference	29089	UBE2T	ORPHA:84
HP:0040195	Decreased head circumference	675	BRCA2	ORPHA:84
HP:0040195	Decreased head circumference	675	BRCA2	OMIM:605724
HP:0040195	Decreased head circumference	55120	FANCL	ORPHA:84
HP:0040195	Decreased head circumference	2177	FANCD2	ORPHA:84
HP:0040195	Decreased head circumference	2177	FANCD2	OMIM:227646
HP:0040195	Decreased head circumference	2175	FANCA	ORPHA:84
HP:0040195	Decreased head circumference	2175	FANCA	OMIM:227650
HP:0040195	Decreased head circumference	2187	FANCB	ORPHA:84
HP:0040195	Decreased head circumference	2176	FANCC	ORPHA:84
HP:0040195	Decreased head circumference	2176	FANCC	OMIM:227645
HP:0040195	Decreased head circumference	2178	FANCE	ORPHA:84
HP:0040195	Decreased head circumference	2178	FANCE	OMIM:600901
HP:0040195	Decreased head circumference	2188	FANCF	ORPHA:84
HP:0040195	Decreased head circumference	2188	FANCF	OMIM:603467
HP:0040195	Decreased head circumference	2189	FANCG	ORPHA:84
HP:0040195	Decreased head circumference	2189	FANCG	OMIM:614082
HP:0040195	Decreased head circumference	5888	RAD51	ORPHA:84
HP:0040195	Decreased head circumference	5888	RAD51	OMIM:617244
HP:0040195	Decreased head circumference	5889	RAD51C	ORPHA:84
HP:0040195	Decreased head circumference	55159	RFWD3	ORPHA:84
HP:0040195	Decreased head circumference	55159	RFWD3	OMIM:617784
HP:0040195	Decreased head circumference	83990	BRIP1	ORPHA:84
HP:0040195	Decreased head circumference	57697	FANCM	ORPHA:84
HP:0040195	Decreased head circumference	55215	FANCI	ORPHA:84
HP:0040195	Decreased head circumference	55215	FANCI	OMIM:609053
HP:0040195	Decreased head circumference	546	ATRX	ORPHA:847
HP:0040195	Decreased head circumference	546	ATRX	OMIM:309580
HP:0040195	Decreased head circumference	546	ATRX	OMIM:301040
HP:0040195	Decreased head circumference	222663	SCUBE3	OMIM:619184
HP:0040195	Decreased head circumference	10367	MICU1	ORPHA:401768
HP:0040195	Decreased head circumference	10367	MICU1	OMIM:615673
HP:0040195	Decreased head circumference	9184	BUB3	ORPHA:1052
HP:0040195	Decreased head circumference	699	BUB1	ORPHA:1052
HP:0040195	Decreased head circumference	9702	CEP57	ORPHA:1052
HP:0040195	Decreased head circumference	9702	CEP57	OMIM:614114
HP:0040195	Decreased head circumference	9319	TRIP13	ORPHA:1052
HP:0040195	Decreased head circumference	9319	TRIP13	OMIM:617598
HP:0040195	Decreased head circumference	701	BUB1B	ORPHA:1052
HP:0040195	Decreased head circumference	701	BUB1B	OMIM:257300
HP:0040195	Decreased head circumference	23036	ZNF292	OMIM:619188
HP:0040195	Decreased head circumference	79867	TCTN2	OMIM:613885
HP:0040195	Decreased head circumference	79867	TCTN2	ORPHA:564
HP:0040195	Decreased head circumference	63894	VIPAS39	OMIM:613404
HP:0040195	Decreased head circumference	83879	CDCA7	OMIM:616910
HP:0040195	Decreased head circumference	25942	SIN3A	OMIM:613406
HP:0040195	Decreased head circumference	25942	SIN3A	ORPHA:94065
HP:0040195	Decreased head circumference	53834	FGFRL1	OMIM:194190
HP:0040195	Decreased head circumference	1487	CTBP1	OMIM:194190
HP:0040195	Decreased head circumference	1487	CTBP1	ORPHA:280
HP:0040195	Decreased head circumference	3954	LETM1	OMIM:194190
HP:0040195	Decreased head circumference	3954	LETM1	ORPHA:280
HP:0040195	Decreased head circumference	10815	CPLX1	OMIM:194190
HP:0040195	Decreased head circumference	10815	CPLX1	ORPHA:280
HP:0040195	Decreased head circumference	84947	SERAC1	OMIM:614739
HP:0040195	Decreased head circumference	54084	TSPEAR	OMIM:620173
HP:0040195	Decreased head circumference	5447	POR	OMIM:201750
HP:0040195	Decreased head circumference	56006	SMG9	OMIM:616920
HP:0040195	Decreased head circumference	91754	NEK9	ORPHA:64754
HP:0040195	Decreased head circumference	84720	PIGO	OMIM:614749
HP:0040195	Decreased head circumference	23345	SYNE1	ORPHA:319332
HP:0040195	Decreased head circumference	3675	ITGA3	OMIM:614748
HP:0040195	Decreased head circumference	5649	RELN	OMIM:257320
HP:0040195	Decreased head circumference	23137	SMC5	OMIM:620185
HP:0040195	Decreased head circumference	55343	SLC35C1	OMIM:266265
HP:0040195	Decreased head circumference	55343	SLC35C1	ORPHA:99843
HP:0040195	Decreased head circumference	79759	ZNF668	OMIM:620194
HP:0040195	Decreased head circumference	1737	DLAT	OMIM:245348
HP:0040195	Decreased head circumference	1737	DLAT	ORPHA:79244
HP:0040195	Decreased head circumference	8050	PDHX	OMIM:245349
HP:0040195	Decreased head circumference	8050	PDHX	ORPHA:255182
HP:0040195	Decreased head circumference	23522	KAT6B	ORPHA:85201
HP:0040195	Decreased head circumference	23522	KAT6B	OMIM:606170
HP:0040195	Decreased head circumference	23522	KAT6B	OMIM:603736
HP:0040195	Decreased head circumference	23522	KAT6B	ORPHA:3047
HP:0040195	Decreased head circumference	6605	SMARCE1	OMIM:616938
HP:0040195	Decreased head circumference	6605	SMARCE1	ORPHA:1465
HP:0040195	Decreased head circumference	388015	RTL1	ORPHA:96334
HP:0040195	Decreased head circumference	8788	DLK1	ORPHA:96334
HP:0040195	Decreased head circumference	55384	MEG3	ORPHA:96334
HP:0040195	Decreased head circumference	158	ADSL	ORPHA:46
HP:0040195	Decreased head circumference	158	ADSL	OMIM:103050
HP:0040195	Decreased head circumference	415	ARSL	OMIM:302950
HP:0040195	Decreased head circumference	81887	LAS1L	OMIM:309585
HP:0040195	Decreased head circumference	545	ATR	ORPHA:808
HP:0040195	Decreased head circumference	545	ATR	OMIM:210600
HP:0040195	Decreased head circumference	1062	CENPE	ORPHA:808
HP:0040195	Decreased head circumference	1062	CENPE	OMIM:616051
HP:0040195	Decreased head circumference	5116	PCNT	ORPHA:808
HP:0040195	Decreased head circumference	5116	PCNT	OMIM:210720
HP:0040195	Decreased head circumference	5116	PCNT	ORPHA:2637
HP:0040195	Decreased head circumference	79902	NUP85	ORPHA:808
HP:0040195	Decreased head circumference	84126	ATRIP	ORPHA:808
HP:0040195	Decreased head circumference	55835	CENPJ	ORPHA:808
HP:0040195	Decreased head circumference	55835	CENPJ	OMIM:608393
HP:0040195	Decreased head circumference	55835	CENPJ	OMIM:613676
HP:0040195	Decreased head circumference	55835	CENPJ	ORPHA:2512
HP:0040195	Decreased head circumference	10293	TRAIP	ORPHA:808
HP:0040195	Decreased head circumference	10293	TRAIP	OMIM:616777
HP:0040195	Decreased head circumference	22995	CEP152	ORPHA:808
HP:0040195	Decreased head circumference	22995	CEP152	OMIM:613823
HP:0040195	Decreased head circumference	22995	CEP152	ORPHA:2512
HP:0040195	Decreased head circumference	22995	CEP152	OMIM:614852
HP:0040195	Decreased head circumference	2961	GTF2E2	OMIM:616943
HP:0040195	Decreased head circumference	2961	GTF2E2	ORPHA:33364
HP:0040195	Decreased head circumference	51567	TDP2	OMIM:616949
HP:0040195	Decreased head circumference	6567	SLC16A2	ORPHA:59
HP:0040195	Decreased head circumference	6567	SLC16A2	OMIM:300523
HP:0040195	Decreased head circumference	9276	COPB2	OMIM:617800
HP:0040195	Decreased head circumference	9276	COPB2	OMIM:619884
HP:0040195	Decreased head circumference	9276	COPB2	ORPHA:2512
HP:0040195	Decreased head circumference	3897	L1CAM	ORPHA:1497
HP:0040195	Decreased head circumference	3897	L1CAM	OMIM:304100
HP:0040195	Decreased head circumference	3897	L1CAM	OMIM:303350
HP:0040195	Decreased head circumference	22907	DHX30	OMIM:617804
HP:0040195	Decreased head circumference	9990	SLC12A6	ORPHA:1496
HP:0040195	Decreased head circumference	9894	TELO2	OMIM:616954
HP:0040195	Decreased head circumference	9230	RAB11B	OMIM:617807
HP:0040195	Decreased head circumference	25939	SAMHD1	ORPHA:51
HP:0040195	Decreased head circumference	25939	SAMHD1	OMIM:612952
HP:0040195	Decreased head circumference	79621	RNASEH2B	ORPHA:51
HP:0040195	Decreased head circumference	79621	RNASEH2B	OMIM:610181
HP:0040195	Decreased head circumference	103	ADAR	ORPHA:51
HP:0040195	Decreased head circumference	103	ADAR	OMIM:615010
HP:0040195	Decreased head circumference	100147744	RNU7-1	ORPHA:51
HP:0040195	Decreased head circumference	100147744	RNU7-1	OMIM:619487
HP:0040195	Decreased head circumference	134353	LSM11	ORPHA:51
HP:0040195	Decreased head circumference	64135	IFIH1	ORPHA:51
HP:0040195	Decreased head circumference	64135	IFIH1	OMIM:615846
HP:0040195	Decreased head circumference	10075	HUWE1	OMIM:309590
HP:0040195	Decreased head circumference	60529	ALX4	OMIM:613451
HP:0040195	Decreased head circumference	29123	ANKRD11	ORPHA:2332
HP:0040195	Decreased head circumference	29123	ANKRD11	OMIM:148050
HP:0040195	Decreased head circumference	9759	HDAC4	ORPHA:1001
HP:0040195	Decreased head circumference	473	RERE	OMIM:616975
HP:0040195	Decreased head circumference	473	RERE	ORPHA:1606
HP:0040195	Decreased head circumference	1806	DPYD	OMIM:274270
HP:0040195	Decreased head circumference	1806	DPYD	ORPHA:1675
HP:0040195	Decreased head circumference	8085	KMT2D	ORPHA:2322
HP:0040195	Decreased head circumference	8085	KMT2D	OMIM:147920
HP:0040195	Decreased head circumference	7403	KDM6A	ORPHA:2322
HP:0040195	Decreased head circumference	7403	KDM6A	OMIM:300867
HP:0040195	Decreased head circumference	7403	KDM6A	OMIM:147920
HP:0040195	Decreased head circumference	3097	HIVEP2	OMIM:616977
HP:0040195	Decreased head circumference	54820	NDE1	OMIM:605013
HP:0040195	Decreased head circumference	9837	GINS1	OMIM:617827
HP:0040195	Decreased head circumference	79840	NHEJ1	ORPHA:169079
HP:0040195	Decreased head circumference	55906	ZC4H2	OMIM:314580
HP:0040195	Decreased head circumference	55906	ZC4H2	OMIM:301041
HP:0040195	Decreased head circumference	2068	ERCC2	ORPHA:1466
HP:0040195	Decreased head circumference	2068	ERCC2	ORPHA:33364
HP:0040195	Decreased head circumference	2068	ERCC2	OMIM:610756
HP:0040195	Decreased head circumference	2068	ERCC2	ORPHA:220295
HP:0040195	Decreased head circumference	2068	ERCC2	OMIM:601675
HP:0040195	Decreased head circumference	2068	ERCC2	ORPHA:910
HP:0040195	Decreased head circumference	2068	ERCC2	OMIM:278730
HP:0040195	Decreased head circumference	2067	ERCC1	ORPHA:1466
HP:0040195	Decreased head circumference	2067	ERCC1	OMIM:610758
HP:0040195	Decreased head circumference	6597	SMARCA4	ORPHA:1465
HP:0040195	Decreased head circumference	6597	SMARCA4	OMIM:614609
HP:0040195	Decreased head circumference	6598	SMARCB1	ORPHA:1465
HP:0040195	Decreased head circumference	6598	SMARCB1	OMIM:614608
HP:0040195	Decreased head circumference	6659	SOX4	ORPHA:1465
HP:0040195	Decreased head circumference	6659	SOX4	OMIM:618506
HP:0040195	Decreased head circumference	8289	ARID1A	ORPHA:1465
HP:0040195	Decreased head circumference	8289	ARID1A	OMIM:614607
HP:0040195	Decreased head circumference	5977	DPF2	ORPHA:1465
HP:0040195	Decreased head circumference	6601	SMARCC2	ORPHA:1465
HP:0040195	Decreased head circumference	6602	SMARCD1	ORPHA:1465
HP:0040195	Decreased head circumference	57492	ARID1B	ORPHA:1465
HP:0040195	Decreased head circumference	57492	ARID1B	ORPHA:251056
HP:0040195	Decreased head circumference	57492	ARID1B	OMIM:135900
HP:0040195	Decreased head circumference	196528	ARID2	ORPHA:1465
HP:0040195	Decreased head circumference	6664	SOX11	ORPHA:1465
HP:0040195	Decreased head circumference	6664	SOX11	OMIM:615866
HP:0040195	Decreased head circumference	134701	RIPPLY2	ORPHA:2311
HP:0040195	Decreased head circumference	10683	DLL3	ORPHA:2311
HP:0040195	Decreased head circumference	3955	LFNG	ORPHA:2311
HP:0040195	Decreased head circumference	84667	HES7	ORPHA:2311
HP:0040195	Decreased head circumference	145873	MESP2	ORPHA:2311
HP:0040195	Decreased head circumference	157570	ESCO2	ORPHA:2319
HP:0040195	Decreased head circumference	157570	ESCO2	OMIM:268300
HP:0040195	Decreased head circumference	157570	ESCO2	OMIM:216100
HP:0040195	Decreased head circumference	157570	ESCO2	ORPHA:3103
HP:0040195	Decreased head circumference	197131	UBR1	ORPHA:2315
HP:0040195	Decreased head circumference	197131	UBR1	OMIM:243800
HP:0040195	Decreased head circumference	5723	PSPH	ORPHA:79350
HP:0040195	Decreased head circumference	5723	PSPH	OMIM:614023
HP:0040195	Decreased head circumference	26227	PHGDH	ORPHA:79351
HP:0040195	Decreased head circumference	6638	SNRPN	ORPHA:177907
HP:0040195	Decreased head circumference	64840	PORCN	OMIM:305600
HP:0040195	Decreased head circumference	55180	LINS1	OMIM:614340
HP:0040195	Decreased head circumference	80152	CENPT	OMIM:618702
HP:0040195	Decreased head circumference	6697	SPR	ORPHA:70594
HP:0040195	Decreased head circumference	6697	SPR	OMIM:612716
HP:0040195	Decreased head circumference	6134	RPL10	ORPHA:435938
HP:0040195	Decreased head circumference	6134	RPL10	OMIM:300998
HP:0040195	Decreased head circumference	6134	RPL10	ORPHA:459070
HP:0040195	Decreased head circumference	953	ENTPD1	OMIM:615683
HP:0040195	Decreased head circumference	953	ENTPD1	ORPHA:401810
HP:0040195	Decreased head circumference	2893	GRIA4	OMIM:617864
HP:0040195	Decreased head circumference	84628	NTNG2	OMIM:618718
HP:0040195	Decreased head circumference	55691	FRMD4A	ORPHA:466688
HP:0040195	Decreased head circumference	54802	TRIT1	OMIM:617873
HP:0040195	Decreased head circumference	55733	HHAT	ORPHA:1422
HP:0040195	Decreased head circumference	55733	HHAT	OMIM:600092
HP:0040195	Decreased head circumference	4724	NDUFS4	OMIM:252010
HP:0040195	Decreased head circumference	4724	NDUFS4	ORPHA:2609
HP:0040195	Decreased head circumference	2260	FGFR1	ORPHA:220386
HP:0040195	Decreased head circumference	2260	FGFR1	ORPHA:280200
HP:0040195	Decreased head circumference	2260	FGFR1	OMIM:190440
HP:0040195	Decreased head circumference	2260	FGFR1	ORPHA:93924
HP:0040195	Decreased head circumference	2260	FGFR1	OMIM:615465
HP:0040195	Decreased head circumference	10735	STAG2	ORPHA:220386
HP:0040195	Decreased head circumference	10735	STAG2	ORPHA:93925
HP:0040195	Decreased head circumference	10735	STAG2	OMIM:301043
HP:0040195	Decreased head circumference	10735	STAG2	OMIM:301022
HP:0040195	Decreased head circumference	8243	SMC1A	ORPHA:220386
HP:0040195	Decreased head circumference	8243	SMC1A	OMIM:300590
HP:0040195	Decreased head circumference	8243	SMC1A	OMIM:301044
HP:0040195	Decreased head circumference	8243	SMC1A	ORPHA:199
HP:0040195	Decreased head circumference	84700	MYO18B	OMIM:616549
HP:0040195	Decreased head circumference	8777	MPDZ	OMIM:615219
HP:0040195	Decreased head circumference	1788	DNMT3A	OMIM:618724
HP:0040195	Decreased head circumference	8086	AAAS	OMIM:231550
HP:0040195	Decreased head circumference	8086	AAAS	ORPHA:869
HP:0040195	Decreased head circumference	26123	TCTN3	ORPHA:2753
HP:0040195	Decreased head circumference	26123	TCTN3	ORPHA:564
HP:0040195	Decreased head circumference	2182	ACSL4	OMIM:300387
HP:0040195	Decreased head circumference	51075	TMX2	OMIM:618730
HP:0040195	Decreased head circumference	57647	DHX37	OMIM:618731
HP:0040195	Decreased head circumference	65057	ACD	OMIM:616553
HP:0040195	Decreased head circumference	65057	ACD	ORPHA:3322
HP:0040195	Decreased head circumference	7545	ZIC1	OMIM:618736
HP:0040195	Decreased head circumference	7545	ZIC1	OMIM:616602
HP:0040195	Decreased head circumference	51763	INPP5K	OMIM:617404
HP:0040195	Decreased head circumference	51763	INPP5K	ORPHA:559
HP:0040195	Decreased head circumference	4281	MID1	ORPHA:2745
HP:0040195	Decreased head circumference	4281	MID1	OMIM:300000
HP:0040195	Decreased head circumference	246329	STAC3	OMIM:255995
HP:0040195	Decreased head circumference	8367	H4C5	OMIM:619950
HP:0040195	Decreased head circumference	3703	STT3A	OMIM:615596
HP:0040195	Decreased head circumference	3703	STT3A	OMIM:619714
HP:0040195	Decreased head circumference	3703	STT3A	ORPHA:370921
HP:0040195	Decreased head circumference	6873	TAF2	OMIM:615599
HP:0040195	Decreased head circumference	1947	EFNB1	ORPHA:1520
HP:0040195	Decreased head circumference	1355	COX15	OMIM:615119
HP:0040195	Decreased head circumference	81857	MED25	OMIM:616449
HP:0040195	Decreased head circumference	81857	MED25	ORPHA:464738
HP:0040195	Decreased head circumference	5361	PLXNA1	OMIM:619955
HP:0040195	Decreased head circumference	4047	LSS	ORPHA:2850
HP:0040195	Decreased head circumference	4047	LSS	OMIM:618840
HP:0040195	Decreased head circumference	197	AHSG	ORPHA:2850
HP:0040195	Decreased head circumference	3694	ITGB6	ORPHA:2850
HP:0040195	Decreased head circumference	3190	HNRNPK	ORPHA:453504
HP:0040195	Decreased head circumference	3190	HNRNPK	ORPHA:352665
HP:0040195	Decreased head circumference	6536	SLC6A9	OMIM:617301
HP:0040195	Decreased head circumference	2782	GNB1	ORPHA:488613
HP:0040195	Decreased head circumference	65082	VPS33A	OMIM:617303
HP:0040195	Decreased head circumference	10730	YME1L1	OMIM:617302
HP:0040195	Decreased head circumference	28960	DCPS	OMIM:616459
HP:0040195	Decreased head circumference	51684	SUFU	ORPHA:280200
HP:0040195	Decreased head circumference	10559	SLC35A1	OMIM:603585
HP:0040195	Decreased head circumference	80153	EDC3	OMIM:616460
HP:0040195	Decreased head circumference	55870	ASH1L	OMIM:617796
HP:0040195	Decreased head circumference	25885	POLR1A	OMIM:616462
HP:0040195	Decreased head circumference	91869	RFT1	ORPHA:244310
HP:0040195	Decreased head circumference	91869	RFT1	OMIM:612015
HP:0040195	Decreased head circumference	816	CAMK2B	OMIM:617799
HP:0040195	Decreased head circumference	815	CAMK2A	OMIM:617798
HP:0040195	Decreased head circumference	547	KIF1A	ORPHA:2836
HP:0040195	Decreased head circumference	547	KIF1A	OMIM:614255
HP:0040195	Decreased head circumference	5155	PDGFB	ORPHA:1980
HP:0040195	Decreased head circumference	9213	XPR1	ORPHA:1980
HP:0040195	Decreased head circumference	5159	PDGFRB	ORPHA:1980
HP:0040195	Decreased head circumference	57462	MYORG	ORPHA:1980
HP:0040195	Decreased head circumference	6575	SLC20A2	ORPHA:1980
HP:0040195	Decreased head circumference	58494	JAM2	ORPHA:1980
HP:0040195	Decreased head circumference	23184	MESD	OMIM:618644
HP:0040195	Decreased head circumference	55109	AGGF1	ORPHA:90308
HP:0040195	Decreased head circumference	2626	GATA4	ORPHA:251071
HP:0040195	Decreased head circumference	652	BMP4	OMIM:607932
HP:0040195	Decreased head circumference	652	BMP4	ORPHA:139471
HP:0040195	Decreased head circumference	54872	PIGG	ORPHA:280
HP:0040195	Decreased head circumference	7469	NELFA	ORPHA:280
HP:0040195	Decreased head circumference	1656	DDX6	OMIM:618653
HP:0040195	Decreased head circumference	1501	CTNND2	ORPHA:281
HP:0040195	Decreased head circumference	9037	SEMA5A	ORPHA:281
HP:0040195	Decreased head circumference	26057	ANKRD17	OMIM:619504
HP:0040195	Decreased head circumference	3737	KCNA2	ORPHA:442835
HP:0040195	Decreased head circumference	1759	DNM1	ORPHA:442835
HP:0040195	Decreased head circumference	8120	AP3B2	ORPHA:442835
HP:0040195	Decreased head circumference	8120	AP3B2	OMIM:617276
HP:0040195	Decreased head circumference	10991	SLC38A3	ORPHA:442835
HP:0040195	Decreased head circumference	10991	SLC38A3	OMIM:619881
HP:0040195	Decreased head circumference	51343	FZR1	ORPHA:442835
HP:0040195	Decreased head circumference	22906	TRAK1	ORPHA:442835
HP:0040195	Decreased head circumference	22906	TRAK1	OMIM:618201
HP:0040195	Decreased head circumference	2566	GABRG2	ORPHA:442835
HP:0040195	Decreased head circumference	1917	EEF1A2	ORPHA:442835
HP:0040195	Decreased head circumference	1917	EEF1A2	OMIM:616393
HP:0040195	Decreased head circumference	2561	GABRB2	ORPHA:442835
HP:0040195	Decreased head circumference	7532	YWHAG	ORPHA:442835
HP:0040195	Decreased head circumference	79876	UBA5	ORPHA:442835
HP:0040195	Decreased head circumference	6328	SCN3A	ORPHA:442835
HP:0040195	Decreased head circumference	6328	SCN3A	OMIM:617935
HP:0040195	Decreased head circumference	6328	SCN3A	OMIM:617938
HP:0040195	Decreased head circumference	2558	GABRA5	ORPHA:442835
HP:0040195	Decreased head circumference	2906	GRIN2D	ORPHA:442835
HP:0040195	Decreased head circumference	2906	GRIN2D	OMIM:617162
HP:0040195	Decreased head circumference	10659	CELF2	ORPHA:442835
HP:0040195	Decreased head circumference	774	CACNA1B	ORPHA:442835
HP:0040195	Decreased head circumference	1213	CLTC	ORPHA:442835
HP:0040195	Decreased head circumference	23334	SZT2	ORPHA:442835
HP:0040195	Decreased head circumference	51412	ACTL6B	ORPHA:442835
HP:0040195	Decreased head circumference	51412	ACTL6B	OMIM:618468
HP:0040195	Decreased head circumference	51412	ACTL6B	OMIM:618470
HP:0040195	Decreased head circumference	348980	HCN1	ORPHA:442835
HP:0040195	Decreased head circumference	348980	HCN1	OMIM:618482
HP:0040195	Decreased head circumference	6506	SLC1A2	ORPHA:442835
HP:0040195	Decreased head circumference	6506	SLC1A2	OMIM:617105
HP:0040195	Decreased head circumference	8867	SYNJ1	ORPHA:442835
HP:0040195	Decreased head circumference	2258	FGF13	ORPHA:442835
HP:0040195	Decreased head circumference	3745	KCNB1	ORPHA:442835
HP:0040195	Decreased head circumference	284111	SLC13A5	ORPHA:442835
HP:0040195	Decreased head circumference	284111	SLC13A5	OMIM:615905
HP:0040195	Decreased head circumference	25977	NECAP1	ORPHA:442835
HP:0040195	Decreased head circumference	16	AARS1	ORPHA:442835
HP:0040195	Decreased head circumference	16	AARS1	OMIM:616339
HP:0040195	Decreased head circumference	22866	CNKSR2	ORPHA:442835
HP:0040195	Decreased head circumference	9568	GABBR2	ORPHA:442835
HP:0040195	Decreased head circumference	9568	GABBR2	OMIM:617903
HP:0040195	Decreased head circumference	2555	GABRA2	ORPHA:442835
HP:0040195	Decreased head circumference	2555	GABRA2	OMIM:618557
HP:0040195	Decreased head circumference	55152	DALRD3	ORPHA:442835
HP:0040195	Decreased head circumference	55152	DALRD3	OMIM:618910
HP:0040195	Decreased head circumference	773	CACNA1A	ORPHA:442835
HP:0040195	Decreased head circumference	26999	CYFIP2	ORPHA:442835
HP:0040195	Decreased head circumference	26999	CYFIP2	OMIM:618008
HP:0040195	Decreased head circumference	4915	NTRK2	ORPHA:442835
HP:0040195	Decreased head circumference	25973	PARS2	ORPHA:442835
HP:0040195	Decreased head circumference	23097	CDK19	ORPHA:442835
HP:0040195	Decreased head circumference	64801	ARV1	ORPHA:442835
HP:0040195	Decreased head circumference	79947	DHDDS	ORPHA:442835
HP:0040195	Decreased head circumference	2257	FGF12	ORPHA:442835
HP:0040195	Decreased head circumference	5530	PPP3CA	ORPHA:442835
HP:0040195	Decreased head circumference	55623	THUMPD1	OMIM:619989
HP:0040195	Decreased head circumference	57167	SALL4	ORPHA:233
HP:0040195	Decreased head circumference	9935	MAFB	ORPHA:233
HP:0040195	Decreased head circumference	1123	CHN1	ORPHA:233
HP:0040195	Decreased head circumference	54888	NSUN2	ORPHA:235
HP:0040195	Decreased head circumference	54888	NSUN2	OMIM:611091
HP:0040195	Decreased head circumference	253738	EBF3	OMIM:617330
HP:0040195	Decreased head circumference	1182	CLCN3	OMIM:619512
HP:0040195	Decreased head circumference	1182	CLCN3	OMIM:619517
HP:0040195	Decreased head circumference	29081	METTL5	OMIM:618665
HP:0040195	Decreased head circumference	29081	METTL5	ORPHA:2512
HP:0040195	Decreased head circumference	7862	BRPF1	OMIM:617333
HP:0040195	Decreased head circumference	286	ANK1	ORPHA:251066
HP:0040195	Decreased head circumference	5860	QDPR	ORPHA:226
HP:0040195	Decreased head circumference	5860	QDPR	OMIM:261630
HP:0040195	Decreased head circumference	7385	UQCRC2	OMIM:615160
HP:0040195	Decreased head circumference	7750	ZMYM2	OMIM:619522
HP:0040195	Decreased head circumference	9922	IQSEC1	OMIM:618687
HP:0040195	Decreased head circumference	85365	ALG2	OMIM:607906
HP:0040195	Decreased head circumference	85365	ALG2	ORPHA:79326
HP:0040195	Decreased head circumference	57479	PRR12	OMIM:619539
HP:0040195	Decreased head circumference	2006	ELN	ORPHA:90348
HP:0040195	Decreased head circumference	2006	ELN	ORPHA:904
HP:0040195	Decreased head circumference	10516	FBLN5	ORPHA:90348
HP:0040195	Decreased head circumference	10516	FBLN5	ORPHA:90349
HP:0040195	Decreased head circumference	10516	FBLN5	OMIM:219100
HP:0040195	Decreased head circumference	4052	LTBP1	ORPHA:90349
HP:0040195	Decreased head circumference	30008	EFEMP2	ORPHA:90349
HP:0040195	Decreased head circumference	30008	EFEMP2	OMIM:614437
HP:0040195	Decreased head circumference	404672	GTF2H5	ORPHA:33364
HP:0040195	Decreased head circumference	833	CARS1	ORPHA:33364
HP:0040195	Decreased head circumference	833	CARS1	OMIM:618891
HP:0040195	Decreased head circumference	136647	MPLKIP	ORPHA:33364
HP:0040195	Decreased head circumference	136647	MPLKIP	OMIM:234050
HP:0040195	Decreased head circumference	6897	TARS1	ORPHA:33364
HP:0040195	Decreased head circumference	2071	ERCC3	ORPHA:33364
HP:0040195	Decreased head circumference	2071	ERCC3	ORPHA:220295
HP:0040195	Decreased head circumference	2071	ERCC3	OMIM:610651
HP:0040195	Decreased head circumference	2071	ERCC3	ORPHA:910
HP:0040195	Decreased head circumference	1173	AP2M1	ORPHA:1942
HP:0040195	Decreased head circumference	6323	SCN1A	ORPHA:1942
HP:0040195	Decreased head circumference	340533	NEXMIF	ORPHA:1942
HP:0040195	Decreased head circumference	1106	CHD2	ORPHA:1942
HP:0040195	Decreased head circumference	6529	SLC6A1	ORPHA:1942
HP:0040195	Decreased head circumference	9896	FIG4	OMIM:216340
HP:0040195	Decreased head circumference	9896	FIG4	ORPHA:208441
HP:0040195	Decreased head circumference	29893	PSMC3IP	ORPHA:243
HP:0040195	Decreased head circumference	171568	POLR3H	ORPHA:243
HP:0040195	Decreased head circumference	2516	NR5A1	ORPHA:243
HP:0040195	Decreased head circumference	125150	ZSWIM7	ORPHA:243
HP:0040195	Decreased head circumference	9210	BMP15	ORPHA:243
HP:0040195	Decreased head circumference	23514	SPIDR	ORPHA:243
HP:0040195	Decreased head circumference	2492	FSHR	ORPHA:243
HP:0040195	Decreased head circumference	646	BNC1	ORPHA:243
HP:0040195	Decreased head circumference	6576	SLC25A1	OMIM:615182
HP:0040195	Decreased head circumference	8621	CDK13	OMIM:617360
HP:0040195	Decreased head circumference	133686	NADK2	OMIM:616034
HP:0040195	Decreased head circumference	133686	NADK2	ORPHA:431361
HP:0040195	Decreased head circumference	5587	PRKD1	OMIM:617364
HP:0040195	Decreased head circumference	29968	PSAT1	OMIM:616038
HP:0040195	Decreased head circumference	8905	AP1S2	OMIM:304340
HP:0040195	Decreased head circumference	8905	AP1S2	ORPHA:85329
HP:0040195	Decreased head circumference	3736	KCNA1	ORPHA:1934
HP:0040195	Decreased head circumference	9091	PIGQ	ORPHA:1934
HP:0040195	Decreased head circumference	81603	TRIM8	ORPHA:1934
HP:0040195	Decreased head circumference	81603	TRIM8	OMIM:619428
HP:0040195	Decreased head circumference	2902	GRIN1	ORPHA:1934
HP:0040195	Decreased head circumference	2902	GRIN1	OMIM:614254
HP:0040195	Decreased head circumference	2902	GRIN1	OMIM:619814
HP:0040195	Decreased head circumference	2902	GRIN1	ORPHA:208447
HP:0040195	Decreased head circumference	79751	SLC25A22	ORPHA:1934
HP:0040195	Decreased head circumference	150094	SIK1	ORPHA:1934
HP:0040195	Decreased head circumference	23312	DMXL2	ORPHA:1934
HP:0040195	Decreased head circumference	2917	GRM7	ORPHA:1934
HP:0040195	Decreased head circumference	2917	GRM7	OMIM:618922
HP:0040195	Decreased head circumference	170302	ARX	ORPHA:1934
HP:0040195	Decreased head circumference	170302	ARX	OMIM:308350
HP:0040195	Decreased head circumference	170302	ARX	OMIM:300004
HP:0040195	Decreased head circumference	170302	ARX	ORPHA:2508
HP:0040195	Decreased head circumference	170302	ARX	ORPHA:452
HP:0040195	Decreased head circumference	6326	SCN2A	ORPHA:1934
HP:0040195	Decreased head circumference	51227	PIGP	ORPHA:1934
HP:0040195	Decreased head circumference	51227	PIGP	OMIM:617599
HP:0040195	Decreased head circumference	6324	SCN1B	ORPHA:1934
HP:0040195	Decreased head circumference	4761	NEUROD2	ORPHA:1934
HP:0040195	Decreased head circumference	8803	SUCLA2	ORPHA:1933
HP:0040195	Decreased head circumference	54808	DYM	ORPHA:239
HP:0040195	Decreased head circumference	54808	DYM	OMIM:223800
HP:0040195	Decreased head circumference	54808	DYM	OMIM:607326
HP:0040195	Decreased head circumference	51750	RTEL1	OMIM:615190
HP:0040195	Decreased head circumference	51750	RTEL1	ORPHA:3322
HP:0040195	Decreased head circumference	10466	COG5	ORPHA:263487
HP:0040195	Decreased head circumference	10466	COG5	OMIM:613612
HP:0040195	Decreased head circumference	30000	TNPO2	OMIM:619556
HP:0040195	Decreased head circumference	498	ATP5F1A	OMIM:616045
HP:0040195	Decreased head circumference	23314	SATB2	ORPHA:251028
HP:0040195	Decreased head circumference	23314	SATB2	ORPHA:251019
HP:0040195	Decreased head circumference	23314	SATB2	OMIM:612313
HP:0040195	Decreased head circumference	4729	NDUFV2	OMIM:618229
HP:0040195	Decreased head circumference	4729	NDUFV2	ORPHA:2609
HP:0040195	Decreased head circumference	2627	GATA6	OMIM:600001
HP:0040195	Decreased head circumference	55869	HDAC8	OMIM:300882
HP:0040195	Decreased head circumference	55869	HDAC8	ORPHA:199
HP:0040195	Decreased head circumference	1349	COX7B	OMIM:300887
HP:0040195	Decreased head circumference	1349	COX7B	ORPHA:2556
HP:0040195	Decreased head circumference	1349	COX7B	OMIM:309801
HP:0040195	Decreased head circumference	4695	NDUFA2	OMIM:618235
HP:0040195	Decreased head circumference	79868	ALG13	OMIM:300884
HP:0040195	Decreased head circumference	9179	AP4M1	OMIM:612936
HP:0040195	Decreased head circumference	9179	AP4M1	ORPHA:280763
HP:0040195	Decreased head circumference	3192	HNRNPU	OMIM:617391
HP:0040195	Decreased head circumference	3192	HNRNPU	ORPHA:238769
HP:0040195	Decreased head circumference	56915	EXOSC5	OMIM:619576
HP:0040195	Decreased head circumference	8260	NAA10	OMIM:300855
HP:0040195	Decreased head circumference	8260	NAA10	ORPHA:568
HP:0040195	Decreased head circumference	8260	NAA10	OMIM:309800
HP:0040195	Decreased head circumference	11274	USP18	OMIM:617397
HP:0040195	Decreased head circumference	340665	CYP26C1	ORPHA:398189
HP:0040195	Decreased head circumference	5831	PYCR1	OMIM:612940
HP:0040195	Decreased head circumference	92344	GORAB	OMIM:231070
HP:0040195	Decreased head circumference	6898	TAT	ORPHA:28378
HP:0040195	Decreased head circumference	2898	GRIK2	OMIM:619580
HP:0040195	Decreased head circumference	80324	PUS1	OMIM:600462
HP:0040195	Decreased head circumference	80324	PUS1	ORPHA:2598
HP:0040195	Decreased head circumference	9496	TBX4	ORPHA:261279
HP:0040195	Decreased head circumference	10524	KAT5	OMIM:619103
HP:0040195	Decreased head circumference	9451	EIF2AK3	OMIM:226980
HP:0040195	Decreased head circumference	9451	EIF2AK3	ORPHA:1667
HP:0040195	Decreased head circumference	5277	PIGA	OMIM:300868
HP:0040195	Decreased head circumference	5277	PIGA	OMIM:301072
HP:0040195	Decreased head circumference	8635	RNASET2	OMIM:612951
HP:0040195	Decreased head circumference	5000	ORC4	OMIM:613800
HP:0040195	Decreased head circumference	5000	ORC4	ORPHA:2554
HP:0040195	Decreased head circumference	4990	SIX6	OMIM:206900
HP:0040195	Decreased head circumference	6657	SOX2	OMIM:206900
HP:0040195	Decreased head circumference	81620	CDT1	OMIM:613804
HP:0040195	Decreased head circumference	81620	CDT1	ORPHA:2554
HP:0040195	Decreased head circumference	23594	ORC6	OMIM:613803
HP:0040195	Decreased head circumference	23594	ORC6	ORPHA:2554
HP:0040195	Decreased head circumference	990	CDC6	OMIM:613805
HP:0040195	Decreased head circumference	990	CDC6	ORPHA:2554
HP:0040195	Decreased head circumference	50814	NSDHL	OMIM:300831
HP:0040195	Decreased head circumference	50814	NSDHL	ORPHA:251383
HP:0040195	Decreased head circumference	57003	CCDC47	OMIM:618268
HP:0040195	Decreased head circumference	10847	SRCAP	OMIM:619595
HP:0040195	Decreased head circumference	55526	DHTKD1	OMIM:204750
HP:0040195	Decreased head circumference	1528	CYB5A	ORPHA:621
HP:0040195	Decreased head circumference	1727	CYB5R3	ORPHA:621
HP:0040195	Decreased head circumference	1727	CYB5R3	OMIM:250800
HP:0040195	Decreased head circumference	526	ATP6V1B2	ORPHA:79500
HP:0040195	Decreased head circumference	57465	TBC1D24	ORPHA:79500
HP:0040195	Decreased head circumference	57465	TBC1D24	ORPHA:352596
HP:0040195	Decreased head circumference	57465	TBC1D24	OMIM:220500
HP:0040195	Decreased head circumference	57465	TBC1D24	OMIM:615338
HP:0040195	Decreased head circumference	90522	YIF1B	OMIM:619125
HP:0040195	Decreased head circumference	55755	CDK5RAP2	OMIM:604804
HP:0040195	Decreased head circumference	55755	CDK5RAP2	ORPHA:2512
HP:0040195	Decreased head circumference	6472	SHMT2	OMIM:619121
HP:0040195	Decreased head circumference	90416	CCDC32	OMIM:619123
HP:0040195	Decreased head circumference	9895	TECPR2	ORPHA:320385
HP:0040195	Decreased head circumference	9895	TECPR2	OMIM:615031
HP:0040195	Decreased head circumference	3739	KCNA4	OMIM:618284
HP:0040195	Decreased head circumference	4683	NBN	ORPHA:647
HP:0040195	Decreased head circumference	4683	NBN	OMIM:251260
HP:0040195	Decreased head circumference	4693	NDP	ORPHA:649
HP:0040195	Decreased head circumference	4693	NDP	ORPHA:891
HP:0040195	Decreased head circumference	3735	KARS1	OMIM:619147
HP:0040195	Decreased head circumference	8665	EIF3F	OMIM:618295
HP:0040195	Decreased head circumference	221692	PHACTR1	OMIM:618298
HP:0040195	Decreased head circumference	8517	IKBKG	OMIM:308300
HP:0040195	Decreased head circumference	10134	BCAP31	OMIM:300475
HP:0040195	Decreased head circumference	10134	BCAP31	ORPHA:369939
HP:0040195	Decreased head circumference	3763	KCNJ6	ORPHA:435628
HP:0040195	Decreased head circumference	3763	KCNJ6	OMIM:614098
HP:0040195	Decreased head circumference	341640	FREM2	ORPHA:2052
HP:0040195	Decreased head circumference	23426	GRIP1	ORPHA:2052
HP:0040195	Decreased head circumference	10262	SF3B4	OMIM:154400
HP:0040195	Decreased head circumference	8506	CNTNAP1	OMIM:618186
HP:0040195	Decreased head circumference	145173	B3GLCT	ORPHA:709
HP:0040195	Decreased head circumference	145173	B3GLCT	OMIM:261540
HP:0040195	Decreased head circumference	7109	TRAPPC10	OMIM:620027
HP:0040195	Decreased head circumference	7109	TRAPPC10	ORPHA:2512
HP:0040195	Decreased head circumference	55325	UFSP2	OMIM:620028
HP:0040195	Decreased head circumference	10274	STAG1	ORPHA:502434
HP:0040195	Decreased head circumference	10274	STAG1	OMIM:617635
HP:0040195	Decreased head circumference	1119	CHKA	OMIM:620023
HP:0040195	Decreased head circumference	8496	PPFIBP1	OMIM:620024
HP:0040195	Decreased head circumference	5111	PCNA	OMIM:615919
HP:0040195	Decreased head circumference	5111	PCNA	ORPHA:438134
HP:0040195	Decreased head circumference	2629	GBA1	OMIM:608013
HP:0040195	Decreased head circumference	57176	VARS2	OMIM:615917
HP:0040195	Decreased head circumference	183	AGT	OMIM:267430
HP:0040195	Decreased head circumference	5972	REN	OMIM:267430
HP:0040195	Decreased head circumference	185	AGTR1	OMIM:267430
HP:0040195	Decreased head circumference	1636	ACE	OMIM:267430
HP:0040195	Decreased head circumference	54968	TMEM70	ORPHA:1194
HP:0040195	Decreased head circumference	5689	PSMB1	OMIM:620038
HP:0040195	Decreased head circumference	23431	AP4E1	OMIM:613744
HP:0040195	Decreased head circumference	23431	AP4E1	ORPHA:280763
HP:0040195	Decreased head circumference	25782	RAB3GAP2	OMIM:212720
HP:0040195	Decreased head circumference	25782	RAB3GAP2	OMIM:614225
HP:0040195	Decreased head circumference	25782	RAB3GAP2	ORPHA:2510
HP:0040195	Decreased head circumference	25782	RAB3GAP2	ORPHA:1387
HP:0040195	Decreased head circumference	10472	ZBTB18	ORPHA:36367
HP:0040195	Decreased head circumference	10472	ZBTB18	OMIM:612337
HP:0040195	Decreased head circumference	7298	TYMS	OMIM:620040
HP:0040195	Decreased head circumference	1351	COX8A	OMIM:619059
HP:0040195	Decreased head circumference	100131801	PET100	OMIM:619055
HP:0040195	Decreased head circumference	5428	POLG	ORPHA:726
HP:0040195	Decreased head circumference	7080	NKX2-1	ORPHA:209905
HP:0040195	Decreased head circumference	4212	MEIS2	OMIM:600987
HP:0040195	Decreased head circumference	4212	MEIS2	ORPHA:261190
HP:0040195	Decreased head circumference	26053	AUTS2	ORPHA:352490
HP:0040195	Decreased head circumference	26053	AUTS2	OMIM:615834
HP:0040195	Decreased head circumference	79813	EHMT1	OMIM:610253
HP:0040195	Decreased head circumference	79813	EHMT1	ORPHA:261652
HP:0040195	Decreased head circumference	79813	EHMT1	ORPHA:96147
HP:0040195	Decreased head circumference	26005	C2CD3	OMIM:615948
HP:0040195	Decreased head circumference	26005	C2CD3	ORPHA:434179
HP:0040195	Decreased head circumference	10382	TUBB4A	OMIM:612438
HP:0040195	Decreased head circumference	23265	EXOC7	OMIM:619072
HP:0040195	Decreased head circumference	1802	DPH2	OMIM:620062
HP:0040195	Decreased head circumference	443	ASPA	OMIM:271900
HP:0040195	Decreased head circumference	149371	EXOC8	OMIM:619076
HP:0040195	Decreased head circumference	285175	UNC80	OMIM:616801
HP:0040195	Decreased head circumference	285175	UNC80	ORPHA:371364
HP:0040195	Decreased head circumference	83475	DOHH	OMIM:620066
HP:0040195	Decreased head circumference	92667	MGME1	ORPHA:352447
HP:0040195	Decreased head circumference	92667	MGME1	OMIM:615084
HP:0040195	Decreased head circumference	55027	HEATR3	OMIM:620072
HP:0040195	Decreased head circumference	5700	PSMC1	OMIM:620071
HP:0040195	Decreased head circumference	58508	KMT2C	ORPHA:261652
HP:0040195	Decreased head circumference	58508	KMT2C	OMIM:617768
HP:0040195	Decreased head circumference	4089	SMAD4	OMIM:139210
HP:0040195	Decreased head circumference	5591	PRKDC	OMIM:615966
HP:0040195	Decreased head circumference	25828	TXN2	OMIM:616811
HP:0040195	Decreased head circumference	3187	HNRNPH1	OMIM:620083
HP:0040195	Decreased head circumference	63895	PIEZO2	OMIM:248700
HP:0040195	Decreased head circumference	63895	PIEZO2	ORPHA:2461
HP:0040195	Decreased head circumference	22880	MORC2	OMIM:619090
HP:0040195	Decreased head circumference	22880	MORC2	ORPHA:466768
HP:0040195	Decreased head circumference	4677	NARS1	OMIM:619091
HP:0040195	Decreased head circumference	4677	NARS1	OMIM:619092
HP:0040195	Decreased head circumference	7355	SLC35A2	OMIM:300896
HP:0040195	Decreased head circumference	7355	SLC35A2	ORPHA:356961
HP:0040195	Decreased head circumference	80184	CEP290	OMIM:611134
HP:0040195	Decreased head circumference	80184	CEP290	ORPHA:564
HP:0040195	Decreased head circumference	5073	PARN	ORPHA:3322
HP:0040195	Decreased head circumference	5073	PARN	OMIM:616353
HP:0040195	Decreased head circumference	7015	TERT	ORPHA:3322
HP:0040195	Decreased head circumference	7015	TERT	OMIM:613989
HP:0040195	Decreased head circumference	26277	TINF2	ORPHA:3322
HP:0040195	Decreased head circumference	26277	TINF2	OMIM:613990
HP:0040195	Decreased head circumference	1736	DKC1	ORPHA:3322
HP:0040195	Decreased head circumference	1736	DKC1	OMIM:305000
HP:0040195	Decreased head circumference	92154	MTSS2	OMIM:620086
HP:0040195	Decreased head circumference	197322	ACSF3	ORPHA:289504
HP:0040195	Decreased head circumference	63925	ZNF335	ORPHA:329228
HP:0040195	Decreased head circumference	2702	GJA5	OMIM:612474
HP:0040195	Decreased head circumference	2703	GJA8	OMIM:612474
HP:0040195	Decreased head circumference	55690	PACS1	ORPHA:329224
HP:0040195	Decreased head circumference	51053	GMNN	OMIM:616835
HP:0040195	Decreased head circumference	51053	GMNN	ORPHA:2554
HP:0040195	Decreased head circumference	10664	CTCF	OMIM:615502
HP:0040195	Decreased head circumference	10664	CTCF	ORPHA:363611
HP:0040195	Decreased head circumference	6307	MSMO1	OMIM:616834
HP:0040195	Decreased head circumference	2200	FBN1	ORPHA:2462
HP:0040195	Decreased head circumference	6497	SKI	ORPHA:2462
HP:0040195	Decreased head circumference	6497	SKI	ORPHA:1606
HP:0040195	Decreased head circumference	6497	SKI	OMIM:182212
HP:0040195	Decreased head circumference	1828	DSG1	OMIM:615508
HP:0040195	Decreased head circumference	3720	JARID2	OMIM:620098
HP:0040195	Decreased head circumference	579	NKX3-2	OMIM:613330
HP:0040195	Decreased head circumference	85358	SHANK3	OMIM:606232
HP:0040195	Decreased head circumference	549	AUH	ORPHA:67046
HP:0040195	Decreased head circumference	55784	MCTP2	ORPHA:1596
HP:0040195	Decreased head circumference	6301	SARS1	OMIM:617709
HP:0040195	Decreased head circumference	55997	CFC1	OMIM:605376
HP:0040195	Decreased head circumference	26224	FBXL3	OMIM:606220
HP:0040195	Decreased head circumference	5925	RB1	ORPHA:1587
HP:0040195	Decreased head circumference	27315	PGAP2	OMIM:614207
HP:0040195	Decreased head circumference	83987	CCDC8	OMIM:614205
HP:0040195	Decreased head circumference	80185	TTI2	OMIM:615541
HP:0040195	Decreased head circumference	80185	TTI2	ORPHA:391307
HP:0040195	Decreased head circumference	128989	TANGO2	OMIM:616878
HP:0040195	Decreased head circumference	128989	TANGO2	ORPHA:480864
HP:0040195	Decreased head circumference	55644	OSGEP	OMIM:617729
HP:0040195	Decreased head circumference	55644	OSGEP	ORPHA:2065
HP:0040195	Decreased head circumference	57572	DOCK6	OMIM:614219
HP:0040195	Decreased head circumference	22931	RAB18	OMIM:614222
HP:0040195	Decreased head circumference	22931	RAB18	ORPHA:2510
HP:0040195	Decreased head circumference	23443	SLC35A3	OMIM:615553
HP:0040195	Decreased head circumference	6925	TCF4	ORPHA:2896
HP:0040195	Decreased head circumference	6925	TCF4	OMIM:610954
HP:0040195	Decreased head circumference	202018	TAPT1	OMIM:616897
HP:0040195	Decreased head circumference	54805	CNNM2	OMIM:616418
HP:0040195	Decreased head circumference	6591	SNAI2	ORPHA:2884
HP:0040195	Decreased head circumference	3815	KIT	ORPHA:2884
HP:0040195	Decreased head circumference	3756	KCNH1	ORPHA:420561
HP:0040195	Decreased head circumference	1376	CPT2	OMIM:608836
HP:0040195	Decreased head circumference	10717	AP4B1	ORPHA:280763
HP:0040195	Decreased head circumference	10717	AP4B1	OMIM:614066
HP:0040195	Decreased head circumference	11154	AP4S1	ORPHA:280763
HP:0040195	Decreased head circumference	11154	AP4S1	OMIM:614067
HP:0040195	Decreased head circumference	9320	TRIP12	OMIM:617752
HP:0040195	Decreased head circumference	5879	RAC1	OMIM:617751
HP:0040195	Decreased head circumference	5879	RAC1	ORPHA:500159
HP:0040195	Decreased head circumference	1663	DDX11	OMIM:613398
HP:0040195	Decreased head circumference	2186	BPTF	OMIM:617755
HP:0040195	Decreased head circumference	738	VPS51	OMIM:618606
HP:0040195	Decreased head circumference	9439	MED23	OMIM:614249
HP:0040195	Decreased head circumference	5430	POLR2A	OMIM:618603
HP:0040195	Decreased head circumference	22827	PUF60	OMIM:615583
HP:0040195	Decreased head circumference	22827	PUF60	ORPHA:508498
HP:0040195	Decreased head circumference	26235	FBXL4	OMIM:615471
HP:0040195	Decreased head circumference	23019	CNOT1	OMIM:618500
HP:0040195	Decreased head circumference	55823	VPS11	ORPHA:466934
HP:0040195	Decreased head circumference	55823	VPS11	OMIM:616683
HP:0040195	Decreased head circumference	6777	STAT5B	OMIM:618985
HP:0040195	Decreased head circumference	4897	NRCAM	OMIM:619833
HP:0040195	Decreased head circumference	23498	HAAO	OMIM:617660
HP:0040195	Decreased head circumference	161582	DNAAF4	OMIM:615482
HP:0040195	Decreased head circumference	9578	CDC42BPB	OMIM:619841
HP:0040195	Decreased head circumference	65993	MRPS34	OMIM:617664
HP:0040195	Decreased head circumference	80816	ASXL3	OMIM:615485
HP:0040195	Decreased head circumference	80816	ASXL3	ORPHA:352577
HP:0040195	Decreased head circumference	8942	KYNU	OMIM:617661
HP:0040195	Decreased head circumference	387787	LIPT2	OMIM:617668
HP:0040195	Decreased head circumference	1841	DTYMK	OMIM:619847
HP:0040195	Decreased head circumference	27229	TUBGCP4	OMIM:616335
HP:0040195	Decreased head circumference	27229	TUBGCP4	ORPHA:2518
HP:0040195	Decreased head circumference	3149	HMGB3	OMIM:300915
HP:0040195	Decreased head circumference	2132	EXT2	ORPHA:466926
HP:0040195	Decreased head circumference	2132	EXT2	OMIM:616682
HP:0040195	Decreased head circumference	51112	TRAPPC12	OMIM:617669
HP:0040195	Decreased head circumference	55636	CHD7	ORPHA:138
HP:0040195	Decreased head circumference	55636	CHD7	OMIM:214800
HP:0040195	Decreased head circumference	9723	SEMA3E	ORPHA:138
HP:0040195	Decreased head circumference	284403	WDR62	OMIM:604317
HP:0040195	Decreased head circumference	284403	WDR62	ORPHA:2512
HP:0040195	Decreased head circumference	288	ANK3	OMIM:615493
HP:0040195	Decreased head circumference	23250	ATP11A	OMIM:619851
HP:0040195	Decreased head circumference	1020	CDK5	OMIM:616342
HP:0040195	Decreased head circumference	7994	KAT6A	ORPHA:457193
HP:0040195	Decreased head circumference	7994	KAT6A	OMIM:616268
HP:0040195	Decreased head circumference	1716	DGUOK	OMIM:251880
HP:0040195	Decreased head circumference	8550	MAPKAPK5	OMIM:619869
HP:0040195	Decreased head circumference	23007	PLCH1	ORPHA:93925
HP:0040195	Decreased head circumference	23007	PLCH1	OMIM:619895
HP:0040195	Decreased head circumference	788	SLC25A20	ORPHA:159
HP:0040195	Decreased head circumference	5518	PPP2R1A	OMIM:616362
HP:0040195	Decreased head circumference	23126	POGZ	OMIM:616364
HP:0040195	Decreased head circumference	23126	POGZ	ORPHA:468678
HP:0040195	Decreased head circumference	55773	TBC1D23	OMIM:617695
HP:0040195	Decreased head circumference	8558	CDK10	OMIM:617694
HP:0040195	Decreased head circumference	51692	CPSF3	OMIM:619876
HP:0040195	Decreased head circumference	116115	ZNF526	OMIM:619877
HP:0040195	Decreased head circumference	5590	PRKCZ	ORPHA:1606
HP:0040195	Decreased head circumference	2563	GABRD	ORPHA:1606
HP:0040195	Decreased head circumference	23013	SPEN	ORPHA:1606
HP:0040195	Decreased head circumference	23013	SPEN	OMIM:619312
HP:0040195	Decreased head circumference	8510	MMP23B	ORPHA:1606
HP:0040195	Decreased head circumference	7798	LUZP1	ORPHA:1606
HP:0040195	Decreased head circumference	10630	PDPN	ORPHA:1606
HP:0040195	Decreased head circumference	10277	UBE4B	ORPHA:1606
HP:0040195	Decreased head circumference	8514	KCNAB2	ORPHA:1606
HP:0040195	Decreased head circumference	63976	PRDM16	ORPHA:1606
HP:0040195	Decreased head circumference	54897	CASZ1	ORPHA:1606
HP:0040195	Decreased head circumference	1859	DYRK1A	ORPHA:464311
HP:0040195	Decreased head circumference	1859	DYRK1A	ORPHA:268261
HP:0040195	Decreased head circumference	1859	DYRK1A	OMIM:614104
HP:0040195	Decreased head circumference	285362	SUMF1	ORPHA:585
HP:0040195	Decreased head circumference	83479	DDX59	ORPHA:2919
HP:0040195	Decreased head circumference	83479	DDX59	OMIM:174300
HP:0040195	Decreased head circumference	56098	PCDHGC4	OMIM:619880
HP:0040195	Decreased head circumference	4285	MIPEP	OMIM:617228
HP:0040195	Decreased head circumference	641	BLM	OMIM:210900
HP:0040195	Decreased head circumference	79633	FAT4	ORPHA:314679
HP:0040195	Decreased head circumference	8642	DCHS1	ORPHA:314679
HP:0040195	Decreased head circumference	57192	MCOLN1	ORPHA:578
HP:0040195	Decreased head circumference	57192	MCOLN1	OMIM:252650
HP:0040195	Decreased head circumference	5354	PLP1	OMIM:312080
HP:0040195	Decreased head circumference	3798	KIF5A	OMIM:617235
HP:0040195	Decreased head circumference	57679	ALS2	OMIM:205100
HP:0040195	Decreased head circumference	57679	ALS2	ORPHA:300605
HP:0040195	Decreased head circumference	8565	YARS1	OMIM:619418
HP:0040195	Decreased head circumference	374969	SVBP	OMIM:618569
HP:0040195	Decreased head circumference	84295	PHF6	ORPHA:127
HP:0040195	Decreased head circumference	84295	PHF6	OMIM:301900
HP:0040195	Decreased head circumference	6135	RPL11	ORPHA:124
HP:0040195	Decreased head circumference	6138	RPL15	ORPHA:124
HP:0040195	Decreased head circumference	6229	RPS24	ORPHA:124
HP:0040195	Decreased head circumference	6125	RPL5	ORPHA:124
HP:0040195	Decreased head circumference	6204	RPS10	ORPHA:124
HP:0040195	Decreased head circumference	6224	RPS20	ORPHA:124
HP:0040195	Decreased head circumference	6165	RPL35A	ORPHA:124
HP:0040195	Decreased head circumference	2623	GATA1	ORPHA:124
HP:0040195	Decreased head circumference	6223	RPS19	ORPHA:124
HP:0040195	Decreased head circumference	6223	RPS19	OMIM:105650
HP:0040195	Decreased head circumference	6232	RPS27	ORPHA:124
HP:0040195	Decreased head circumference	6231	RPS26	ORPHA:124
HP:0040195	Decreased head circumference	11224	RPL35	ORPHA:124
HP:0040195	Decreased head circumference	6160	RPL31	ORPHA:124
HP:0040195	Decreased head circumference	6218	RPS17	ORPHA:124
HP:0040195	Decreased head circumference	6201	RPS7	ORPHA:124
HP:0040195	Decreased head circumference	6155	RPL27	ORPHA:124
HP:0040195	Decreased head circumference	6154	RPL26	ORPHA:124
HP:0040195	Decreased head circumference	6210	RPS15A	ORPHA:124
HP:0040195	Decreased head circumference	90121	TSR2	ORPHA:124
HP:0040195	Decreased head circumference	6141	RPL18	ORPHA:124
HP:0040195	Decreased head circumference	6235	RPS29	ORPHA:124
HP:0040195	Decreased head circumference	6234	RPS28	ORPHA:124
HP:0040195	Decreased head circumference	51816	ADA2	ORPHA:124
HP:0040195	Decreased head circumference	9742	IFT140	OMIM:266920
HP:0040195	Decreased head circumference	55656	INTS8	OMIM:618572
HP:0040195	Decreased head circumference	165918	RNF168	OMIM:611943
HP:0040195	Decreased head circumference	165918	RNF168	ORPHA:420741
HP:0040195	Decreased head circumference	389827	MYMK	OMIM:254940
HP:0040195	Decreased head circumference	389827	MYMK	ORPHA:1358
HP:0040195	Decreased head circumference	51574	LARP7	OMIM:615071
HP:0040195	Decreased head circumference	286053	NSMCE2	OMIM:617253
HP:0040195	Decreased head circumference	84894	LINGO1	OMIM:618103
HP:0040195	Decreased head circumference	160418	TMTC3	OMIM:617255
HP:0040195	Decreased head circumference	123606	NIPA1	ORPHA:261183
HP:0040195	Decreased head circumference	7283	TUBG1	ORPHA:261183
HP:0040195	Decreased head circumference	7283	TUBG1	OMIM:615412
HP:0040195	Decreased head circumference	81614	NIPA2	ORPHA:261183
HP:0040195	Decreased head circumference	8473	OGT	OMIM:300997
HP:0040195	Decreased head circumference	6418	SET	OMIM:618106
HP:0040195	Decreased head circumference	9526	MPDU1	OMIM:609180
HP:0040195	Decreased head circumference	1120	CHKB	OMIM:602541
HP:0040195	Decreased head circumference	7707	ZNF148	OMIM:617260
HP:0040195	Decreased head circumference	6299	SALL1	OMIM:107480
HP:0040195	Decreased head circumference	3778	KCNMA1	OMIM:618596
HP:0040195	Decreased head circumference	112939	NACC1	ORPHA:500545
HP:0040195	Decreased head circumference	5053	PAH	OMIM:261600
HP:0040195	Decreased head circumference	5053	PAH	ORPHA:79254
HP:0040195	Decreased head circumference	5053	PAH	ORPHA:2209
HP:0040195	Decreased head circumference	114803	MYSM1	OMIM:618116
HP:0040195	Decreased head circumference	4041	LRP5	OMIM:259770
HP:0040195	Decreased head circumference	4041	LRP5	ORPHA:891
HP:0040195	Decreased head circumference	3039	HBA1	ORPHA:98791
HP:0040195	Decreased head circumference	3040	HBA2	ORPHA:98791
HP:0040195	Decreased head circumference	51132	RLIM	OMIM:300978
HP:0040195	Decreased head circumference	4998	ORC1	OMIM:224690
HP:0040195	Decreased head circumference	4998	ORC1	ORPHA:2554
HP:0040195	Decreased head circumference	27341	RRP7A	OMIM:619453
HP:0040195	Decreased head circumference	3376	IARS1	ORPHA:541423
HP:0040195	Decreased head circumference	1312	COMT	ORPHA:567
HP:0040195	Decreased head circumference	221037	JMJD1C	ORPHA:567
HP:0040195	Decreased head circumference	2812	GP1BB	ORPHA:567
HP:0040195	Decreased head circumference	6239	RREB1	ORPHA:567
HP:0040195	Decreased head circumference	6899	TBX1	ORPHA:567
HP:0040195	Decreased head circumference	6899	TBX1	ORPHA:1727
HP:0040195	Decreased head circumference	6899	TBX1	OMIM:192430
HP:0040195	Decreased head circumference	6899	TBX1	OMIM:188400
HP:0040195	Decreased head circumference	7290	HIRA	ORPHA:567
HP:0040195	Decreased head circumference	9632	SEC24C	ORPHA:567
HP:0040195	Decreased head circumference	7353	UFD1	ORPHA:567
HP:0040195	Decreased head circumference	421	ARVCF	ORPHA:567
HP:0040195	Decreased head circumference	5077	PAX3	OMIM:148820
HP:0040195	Decreased head circumference	5077	PAX3	ORPHA:896
HP:0040195	Decreased head circumference	54880	BCOR	ORPHA:568
HP:0040195	Decreased head circumference	54880	BCOR	OMIM:300166
HP:0040195	Decreased head circumference	54880	BCOR	OMIM:309800
HP:0040195	Decreased head circumference	6821	SUOX	OMIM:272300
HP:0040195	Decreased head circumference	538	ATP7A	ORPHA:565
HP:0040195	Decreased head circumference	538	ATP7A	OMIM:309400
HP:0040195	Decreased head circumference	84314	TMEM107	ORPHA:564
HP:0040195	Decreased head circumference	80776	B9D2	ORPHA:564
HP:0040195	Decreased head circumference	79600	TCTN1	ORPHA:564
HP:0040195	Decreased head circumference	57096	RPGRIP1	ORPHA:564
HP:0040195	Decreased head circumference	79848	CSPP1	ORPHA:564
HP:0040195	Decreased head circumference	51259	TMEM216	ORPHA:564
HP:0040195	Decreased head circumference	57545	CC2D2A	ORPHA:564
HP:0040195	Decreased head circumference	79583	TMEM231	ORPHA:564
HP:0040195	Decreased head circumference	91147	TMEM67	ORPHA:564
HP:0040195	Decreased head circumference	79770	TXNDC15	ORPHA:564
HP:0040195	Decreased head circumference	27077	B9D1	ORPHA:564
HP:0040195	Decreased head circumference	23322	RPGRIP1L	ORPHA:564
HP:0040195	Decreased head circumference	54903	MKS1	ORPHA:564
HP:0040195	Decreased head circumference	54903	MKS1	OMIM:249000
HP:0040195	Decreased head circumference	65062	TMEM237	ORPHA:564
HP:0040195	Decreased head circumference	23258	DENND5A	OMIM:617281
HP:0040195	Decreased head circumference	92949	ADAMTSL1	ORPHA:521445
HP:0040195	Decreased head circumference	84065	TMEM222	OMIM:619470
HP:0040195	Decreased head circumference	57187	THOC2	OMIM:300957
HP:0040195	Decreased head circumference	57187	THOC2	ORPHA:457240
HP:0040195	Decreased head circumference	10526	IPO8	OMIM:619472
HP:0040195	Decreased head circumference	348180	CTU2	OMIM:618142
HP:0040195	Decreased head circumference	94005	PIGS	OMIM:618143
HP:0040195	Decreased head circumference	55651	NHP2	OMIM:224230
HP:0040195	Decreased head circumference	55505	NOP10	OMIM:224230
HP:0040195	Decreased head circumference	6711	SPTBN1	OMIM:619475
HP:0040195	Decreased head circumference	3643	INSR	ORPHA:508
HP:0040195	Decreased head circumference	2131	EXT1	ORPHA:502
HP:0040195	Decreased head circumference	7227	TRPS1	ORPHA:502
HP:0040195	Decreased head circumference	6872	TAF1	OMIM:300966
HP:0040195	Decreased head circumference	6872	TAF1	ORPHA:480907
HP:0040195	Decreased head circumference	374879	ZNF699	OMIM:619488
HP:0040195	Decreased head circumference	60676	PAPPA2	OMIM:619489
HP:0040195	Decreased head circumference	1654	DDX3X	OMIM:300958
HP:0040195	Decreased head circumference	1654	DDX3X	ORPHA:457260
HP:0040195	Decreased head circumference	7284	TUFM	OMIM:610678
HP:0040195	Decreased head circumference	407975	MIR17HG	ORPHA:391646
HP:0040195	Decreased head circumference	55599	RNPC3	OMIM:618160
HP:0040195	Decreased head circumference	5805	PTS	OMIM:261640
HP:0040195	Decreased head circumference	63899	NSUN3	OMIM:619012
HP:0040195	Decreased head circumference	7157	TP53	OMIM:618165
HP:0040195	Decreased head circumference	2193	FARSA	OMIM:619013
HP:0040195	Decreased head circumference	5557	PRIM1	OMIM:620005
HP:0040195	Decreased head circumference	84081	NSRP1	OMIM:620001
HP:0040195	Decreased head circumference	54936	ADPRS	OMIM:618170
HP:0040195	Decreased head circumference	9562	MINPP1	ORPHA:284339
HP:0040195	Decreased head circumference	64432	MRPS25	OMIM:619025
HP:0040195	Decreased head circumference	84842	HPDL	OMIM:619026
HP:0040195	Decreased head circumference	51002	TPRKB	ORPHA:2065
HP:0040195	Decreased head circumference	112858	TP53RK	ORPHA:2065
HP:0040195	Decreased head circumference	8270	LAGE3	ORPHA:2065
HP:0040195	Decreased head circumference	55294	FBXW7	OMIM:620012
HP:0040195	Decreased head circumference	1183	CLCN4	OMIM:300114
HP:0040195	Decreased head circumference	1183	CLCN4	ORPHA:485350
HP:0040195	Decreased head circumference	123263	MTFMT	OMIM:614947
HP:0040195	Decreased head circumference	10667	FARS2	OMIM:614946
HP:0040195	Decreased head circumference	9839	ZEB2	OMIM:235730
HP:0040195	Decreased head circumference	80232	WDR26	ORPHA:513456
HP:0040195	Decreased head circumference	4010	LMX1B	ORPHA:495818
HP:0040195	Decreased head circumference	6812	STXBP1	ORPHA:495818
HP:0040195	Decreased head circumference	4552	MTRR	ORPHA:2169
HP:0040195	Decreased head circumference	80055	PGAP1	OMIM:615802
HP:0040195	Decreased head circumference	57582	KCNT1	OMIM:614959
HP:0040195	Decreased head circumference	10225	CD96	OMIM:211750
HP:0040195	Decreased head circumference	10225	CD96	ORPHA:1308
HP:0040195	Decreased head circumference	1763	DNA2	OMIM:615807
HP:0040195	Decreased head circumference	6197	RPS6KA3	OMIM:303600
HP:0040195	Decreased head circumference	6197	RPS6KA3	ORPHA:192
HP:0040195	Decreased head circumference	8913	CACNA1G	OMIM:618087
HP:0040195	Decreased head circumference	80204	FBXO11	OMIM:618089
HP:0040195	Decreased head circumference	1509	CTSD	OMIM:610127
HP:0040195	Decreased head circumference	23325	WASHC4	OMIM:615817
HP:0040195	Decreased head circumference	57531	HACE1	ORPHA:464282
HP:0040195	Decreased head circumference	57531	HACE1	OMIM:616756
HP:0040195	Decreased head circumference	7156	TOP3A	OMIM:618097
HP:0040195	Decreased head circumference	1009	CDH11	ORPHA:1299
HP:0040195	Decreased head circumference	54496	PRMT7	ORPHA:464288
HP:0040195	Decreased head circumference	54496	PRMT7	OMIM:617157
HP:0040195	Decreased head circumference	5063	PAK3	OMIM:300558
HP:0040195	Decreased head circumference	10056	FARSB	OMIM:613658
HP:0040195	Decreased head circumference	54499	TMCO1	OMIM:213980
HP:0040195	Decreased head circumference	440138	ALG11	OMIM:613661
HP:0040195	Decreased head circumference	440138	ALG11	ORPHA:280071
HP:0040195	Decreased head circumference	8481	OFD1	OMIM:311200
HP:0040195	Decreased head circumference	5422	POLA1	ORPHA:163976
HP:0040195	Decreased head circumference	5422	POLA1	OMIM:301030
HP:0040195	Decreased head circumference	51067	YARS2	ORPHA:2598
HP:0040195	Decreased head circumference	28962	OSTM1	OMIM:259720
HP:0040195	Decreased head circumference	79228	THOC6	OMIM:613680
HP:0040195	Decreased head circumference	2033	EP300	OMIM:613684
HP:0040195	Decreased head circumference	2033	EP300	OMIM:180849
HP:0040195	Decreased head circumference	5830	PEX5	OMIM:616716
HP:0040195	Decreased head circumference	5830	PEX5	ORPHA:912
HP:0040195	Decreased head circumference	219285	SAMD9L	ORPHA:2585
HP:0040195	Decreased head circumference	27238	GPKOW	ORPHA:2570
HP:0040195	Decreased head circumference	5648	MASP1	OMIM:257920
HP:0040195	Decreased head circumference	26115	TANC2	OMIM:618906
HP:0040195	Decreased head circumference	55593	OTUD5	OMIM:301056
HP:0040195	Decreased head circumference	5160	PDHA1	OMIM:312170
HP:0040195	Decreased head circumference	5160	PDHA1	ORPHA:79243
HP:0040195	Decreased head circumference	54101	RIPK4	ORPHA:1234
HP:0040195	Decreased head circumference	10982	MAPRE2	OMIM:616734
HP:0040195	Decreased head circumference	10982	MAPRE2	ORPHA:2505
HP:0040195	Decreased head circumference	3176	HNMT	OMIM:616739
HP:0040195	Decreased head circumference	4131	MAP1B	OMIM:618918
HP:0040195	Decreased head circumference	1778	DYNC1H1	OMIM:614563
HP:0040195	Decreased head circumference	3796	KIF2A	OMIM:615411
HP:0040195	Decreased head circumference	1911	PHC1	OMIM:615414
HP:0040195	Decreased head circumference	1911	PHC1	ORPHA:2512
HP:0040195	Decreased head circumference	259232	NALCN	OMIM:615419
HP:0040195	Decreased head circumference	259232	NALCN	ORPHA:371364
HP:0040195	Decreased head circumference	3759	KCNJ2	OMIM:170390
HP:0040195	Decreased head circumference	100506658	OCLN	ORPHA:1229
HP:0040195	Decreased head circumference	100506658	OCLN	OMIM:251290
HP:0040195	Decreased head circumference	54539	NDUFB11	ORPHA:2556
HP:0040195	Decreased head circumference	54539	NDUFB11	ORPHA:2609
HP:0040195	Decreased head circumference	54539	NDUFB11	OMIM:309801
HP:0040195	Decreased head circumference	3052	HCCS	ORPHA:2556
HP:0040195	Decreased head circumference	3052	HCCS	OMIM:309801
HP:0040195	Decreased head circumference	57511	COG6	OMIM:614576
HP:0040195	Decreased head circumference	57511	COG6	OMIM:615328
HP:0040195	Decreased head circumference	83696	TRAPPC9	ORPHA:352530
HP:0040195	Decreased head circumference	29980	DONSON	OMIM:617604
HP:0040195	Decreased head circumference	29980	DONSON	OMIM:251230
HP:0040195	Decreased head circumference	84172	POLR1B	OMIM:618939
HP:0040195	Decreased head circumference	60	ACTB	OMIM:243310
HP:0040195	Decreased head circumference	60	ACTB	ORPHA:2995
HP:0040195	Decreased head circumference	23476	BRD4	ORPHA:199
HP:0040195	Decreased head circumference	9126	SMC3	ORPHA:199
HP:0040195	Decreased head circumference	157680	VPS13B	ORPHA:193
HP:0040195	Decreased head circumference	157680	VPS13B	OMIM:216550
HP:0040195	Decreased head circumference	81689	ISCA1	OMIM:617613
HP:0040195	Decreased head circumference	1861	TOR1A	OMIM:618947
HP:0040195	Decreased head circumference	64857	PLEKHG2	OMIM:616763
HP:0040195	Decreased head circumference	51520	LARS1	OMIM:615438
HP:0040195	Decreased head circumference	4329	ALDH6A1	OMIM:614105
HP:0040195	Decreased head circumference	25914	RTTN	ORPHA:468631
HP:0040195	Decreased head circumference	25914	RTTN	OMIM:614833
HP:0040195	Decreased head circumference	80781	COL18A1	OMIM:267750
HP:0040195	Decreased head circumference	7343	UBTF	ORPHA:500180
HP:0040195	Decreased head circumference	55617	TASP1	OMIM:618950
HP:0040195	Decreased head circumference	60528	ELAC2	OMIM:615440
HP:0040195	Decreased head circumference	28957	MRPS28	OMIM:618958
HP:0040195	Decreased head circumference	3832	KIF11	ORPHA:2526
HP:0040195	Decreased head circumference	3832	KIF11	OMIM:152950
HP:0040195	Decreased head circumference	259266	ASPM	OMIM:608716
HP:0040195	Decreased head circumference	259266	ASPM	ORPHA:2512
HP:0040195	Decreased head circumference	7991	TUSC3	OMIM:611093
HP:0040195	Decreased head circumference	4763	NF1	ORPHA:139474
HP:0040195	Decreased head circumference	1804	DPP6	ORPHA:2514
HP:0040195	Decreased head circumference	1804	DPP6	OMIM:616311
HP:0040195	Decreased head circumference	8192	CLPP	OMIM:614129
HP:0040195	Decreased head circumference	85378	TUBGCP6	ORPHA:2518
HP:0040195	Decreased head circumference	85378	TUBGCP6	OMIM:251270
HP:0040195	Decreased head circumference	4621	MYH3	ORPHA:2990
HP:0040195	Decreased head circumference	4621	MYH3	OMIM:178110
HP:0040195	Decreased head circumference	4621	MYH3	OMIM:193700
HP:0040195	Decreased head circumference	1146	CHRNG	ORPHA:2990
HP:0040195	Decreased head circumference	128637	TBC1D20	ORPHA:2510
HP:0040195	Decreased head circumference	71	ACTG1	ORPHA:2995
HP:0040195	Decreased head circumference	11113	CIT	ORPHA:2512
HP:0040195	Decreased head circumference	9928	KIF14	ORPHA:2512
HP:0040195	Decreased head circumference	9928	KIF14	OMIM:616258
HP:0040195	Decreased head circumference	9928	KIF14	OMIM:617914
HP:0040195	Decreased head circumference	55262	TRAPPC14	ORPHA:2512
HP:0040195	Decreased head circumference	163786	SASS6	ORPHA:2512
HP:0040195	Decreased head circumference	4176	MCM7	ORPHA:2512
HP:0040195	Decreased head circumference	80254	CEP63	ORPHA:2512
HP:0040195	Decreased head circumference	23310	NCAPD3	ORPHA:2512
HP:0040195	Decreased head circumference	23310	NCAPD3	OMIM:617984
HP:0040195	Decreased head circumference	79648	MCPH1	ORPHA:2512
HP:0040195	Decreased head circumference	23141	ANKLE2	ORPHA:2512
HP:0040195	Decreased head circumference	9662	CEP135	ORPHA:2512
HP:0040195	Decreased head circumference	57082	KNL1	ORPHA:2512
HP:0040195	Decreased head circumference	1021	CDK6	ORPHA:2512
HP:0040195	Decreased head circumference	8884	SLC5A6	OMIM:618973
HP:0040195	Decreased head circumference	55367	PIDD1	OMIM:619827
HP:0040195	Decreased head circumference	10749	KIF1C	ORPHA:397946
HP:0040195	Decreased head circumference	25915	NDUFAF3	ORPHA:2609
HP:0040195	Decreased head circumference	51103	NDUFAF1	ORPHA:2609
HP:0040195	Decreased head circumference	91942	NDUFAF2	ORPHA:2609
HP:0040195	Decreased head circumference	51300	TIMMDC1	ORPHA:2609
HP:0040195	Decreased head circumference	4716	NDUFB10	ORPHA:2609
HP:0040195	Decreased head circumference	4723	NDUFV1	ORPHA:2609
HP:0040195	Decreased head circumference	55572	FOXRED1	ORPHA:2609
HP:0040195	Decreased head circumference	284184	NDUFAF8	ORPHA:2609
HP:0040195	Decreased head circumference	55863	TMEM126B	ORPHA:2609
HP:0040195	Decreased head circumference	4535	MT-ND1	ORPHA:2609
HP:0040195	Decreased head circumference	4537	MT-ND3	ORPHA:2609
HP:0040195	Decreased head circumference	4694	NDUFA1	ORPHA:2609
HP:0040195	Decreased head circumference	4720	NDUFS2	ORPHA:2609
HP:0040195	Decreased head circumference	4726	NDUFS6	ORPHA:2609
HP:0040195	Decreased head circumference	4728	NDUFS8	ORPHA:2609
HP:0040195	Decreased head circumference	4722	NDUFS3	ORPHA:2609
HP:0040195	Decreased head circumference	79133	NDUFAF5	ORPHA:2609
HP:0040195	Decreased head circumference	126328	NDUFA11	ORPHA:2609
HP:0040195	Decreased head circumference	4709	NDUFB3	ORPHA:2609
HP:0040195	Decreased head circumference	80224	NUBPL	ORPHA:2609
HP:0040195	Decreased head circumference	29078	NDUFAF4	ORPHA:2609
HP:0040195	Decreased head circumference	374291	NDUFS7	ORPHA:2609
HP:0040195	Decreased head circumference	4700	NDUFA6	ORPHA:2609
HP:0040195	Decreased head circumference	4536	MT-ND2	ORPHA:2609
HP:0040195	Decreased head circumference	4715	NDUFB9	ORPHA:2609
HP:0040195	Decreased head circumference	104	ADARB1	OMIM:618862
HP:0040195	Decreased head circumference	60684	TRAPPC11	OMIM:615356
HP:0040195	Decreased head circumference	60684	TRAPPC11	ORPHA:869
HP:0040195	Decreased head circumference	60684	TRAPPC11	ORPHA:369840
HP:0040195	Decreased head circumference	3020	H3-3A	OMIM:619720
HP:0040195	Decreased head circumference	3021	H3-3B	OMIM:619721
HP:0040195	Decreased head circumference	10300	KATNB1	OMIM:616212
HP:0040195	Decreased head circumference	4056	LTC4S	OMIM:614037
HP:0040195	Decreased head circumference	72	ACTG2	ORPHA:2604
HP:0040195	Decreased head circumference	472	ATM	OMIM:208900
HP:0040195	Decreased head circumference	5610	EIF2AK2	OMIM:618877
HP:0040195	Decreased head circumference	3781	KCNN2	OMIM:619725
HP:0040195	Decreased head circumference	137492	VPS37A	ORPHA:319199
HP:0040195	Decreased head circumference	2590	GALNT2	OMIM:618885
HP:0040195	Decreased head circumference	51319	RSRC1	OMIM:618402
HP:0040195	Decreased head circumference	23761	PISD	OMIM:618889
HP:0040195	Decreased head circumference	7020	TFAP2A	OMIM:113620
HP:0040195	Decreased head circumference	55703	POLR3B	OMIM:619742
HP:0040195	Decreased head circumference	5442	POLRMT	OMIM:619743
HP:0040195	Decreased head circumference	4297	KMT2A	ORPHA:319182
HP:0040195	Decreased head circumference	4297	KMT2A	OMIM:605130
HP:0040195	Decreased head circumference	25930	PTPN23	OMIM:618890
HP:0040195	Decreased head circumference	79731	NARS2	OMIM:616239
HP:0040195	Decreased head circumference	339983	NAT8L	OMIM:614063
HP:0040195	Decreased head circumference	8879	SGPL1	OMIM:617575
HP:0040195	Decreased head circumference	8021	NUP214	OMIM:618426
HP:0040195	Decreased head circumference	8364	H4C3	OMIM:619758
HP:0040195	Decreased head circumference	145258	GSC	OMIM:602471
HP:0040195	Decreased head circumference	53335	BCL11A	OMIM:617101
HP:0040195	Decreased head circumference	9993	DGCR2	OMIM:192430
HP:0040195	Decreased head circumference	8220	ESS2	OMIM:192430
HP:0040195	Decreased head circumference	8214	DGCR6	OMIM:192430
HP:0040195	Decreased head circumference	54487	DGCR8	OMIM:192430
HP:0040195	Decreased head circumference	2271	FH	OMIM:606812
HP:0040195	Decreased head circumference	57724	EPG5	OMIM:242840
HP:0040195	Decreased head circumference	23162	MAPK8IP3	OMIM:618443
HP:0040195	Decreased head circumference	10463	SLC30A9	OMIM:617595
HP:0040195	Decreased head circumference	80173	IFT74	OMIM:617119
HP:0040195	Decreased head circumference	10195	ALG3	ORPHA:79321
HP:0040195	Decreased head circumference	10195	ALG3	OMIM:601110
HP:0040195	Decreased head circumference	8295	TRRAP	OMIM:618454
HP:0040195	Decreased head circumference	81570	CLPB	OMIM:616271
HP:0040195	Decreased head circumference	6878	TAF6	OMIM:617126
HP:0040195	Decreased head circumference	51013	EXOSC1	OMIM:619304
HP:0040195	Decreased head circumference	84706	GPT2	OMIM:616281
HP:0040195	Decreased head circumference	84706	GPT2	ORPHA:477673
HP:0040195	Decreased head circumference	54892	NCAPG2	OMIM:618460
HP:0040195	Decreased head circumference	51728	POLR3K	OMIM:619310
HP:0040195	Decreased head circumference	85476	GFM1	OMIM:609060
HP:0040195	Decreased head circumference	6650	CAPN15	OMIM:619318
HP:0040195	Decreased head circumference	256297	PTF1A	OMIM:609069
HP:0040195	Decreased head circumference	221496	LEMD2	OMIM:619322
HP:0040195	Decreased head circumference	29998	BICRA	OMIM:619325
HP:0040195	Decreased head circumference	8882	ZPR1	OMIM:619321
HP:0040195	Decreased head circumference	4081	MAB21L1	OMIM:618479
HP:0040195	Decreased head circumference	84892	POMGNT2	ORPHA:899
HP:0040195	Decreased head circumference	148789	B3GALNT2	ORPHA:899
HP:0040195	Decreased head circumference	1282	COL4A1	ORPHA:899
HP:0040195	Decreased head circumference	10329	RXYLT1	ORPHA:899
HP:0040195	Decreased head circumference	1605	DAG1	ORPHA:899
HP:0040195	Decreased head circumference	11041	B4GAT1	ORPHA:899
HP:0040195	Decreased head circumference	8869	ST3GAL5	OMIM:609056
HP:0040195	Decreased head circumference	23221	RHOBTB2	OMIM:618004
HP:0040195	Decreased head circumference	2530	FUT8	OMIM:618005
HP:0040195	Decreased head circumference	79641	ROGDI	OMIM:226750
HP:0040195	Decreased head circumference	7965	AIMP2	OMIM:618006
HP:0040195	Decreased head circumference	1781	DYNC1I2	OMIM:618492
HP:0040195	Decreased head circumference	191	AHCY	ORPHA:88618
HP:0040195	Decreased head circumference	8091	HMGA2	ORPHA:94063
HP:0040195	Decreased head circumference	23592	LEMD3	ORPHA:94063
HP:0040195	Decreased head circumference	26276	VPS33B	OMIM:208085
HP:0040195	Decreased head circumference	372	ARCN1	OMIM:617164
HP:0040195	Decreased head circumference	54681	P4HTM	OMIM:618493
HP:0040195	Decreased head circumference	60386	SLC25A19	ORPHA:99742
HP:0040195	Decreased head circumference	9791	PTDSS1	OMIM:151050
HP:0040195	Decreased head circumference	37	ACADVL	OMIM:201475
HP:0040195	Decreased head circumference	5281	PIGF	OMIM:619356
HP:0040195	Decreased head circumference	1387	CREBBP	OMIM:180849
HP:0040195	Decreased head circumference	57514	ARHGAP31	OMIM:100300
HP:0040195	Decreased head circumference	29926	GMPPA	ORPHA:869
HP:0040195	Decreased head circumference	10681	GNB5	OMIM:617182
HP:0040195	Decreased head circumference	79143	MBOAT7	OMIM:617188
HP:0040195	Decreased head circumference	5080	PAX6	ORPHA:893
HP:0040195	Decreased head circumference	627	BDNF	ORPHA:893
HP:0040195	Decreased head circumference	7490	WT1	ORPHA:893
HP:0040195	Decreased head circumference	6904	TBCD	OMIM:617193
HP:0040195	Decreased head circumference	23554	TSPAN12	ORPHA:891
HP:0040195	Decreased head circumference	79797	ZNF408	ORPHA:891
HP:0040195	Decreased head circumference	8322	FZD4	ORPHA:891
HP:0040195	Decreased head circumference	2733	GLE1	OMIM:611890
HP:0040195	Decreased head circumference	2261	FGFR3	ORPHA:85165
HP:0040195	Decreased head circumference	2261	FGFR3	OMIM:610474
HP:0040195	Decreased head circumference	11011	TLK2	OMIM:618050
HP:0040195	Decreased head circumference	4702	NDUFA8	OMIM:619272
HP:0040195	Decreased head circumference	27183	VPS4A	OMIM:619273
HP:0040195	Decreased head circumference	10128	LRPPRC	OMIM:220111
HP:0040195	Decreased head circumference	81555	YIPF5	OMIM:619278
HP:0040195	Decreased head circumference	55532	SLC30A10	ORPHA:309854
HP:0040195	Decreased head circumference	8443	GNPAT	OMIM:222765
HP:0040195	Decreased head circumference	9442	MED27	OMIM:619286
HP:0040195	Decreased head circumference	64324	NSD1	ORPHA:228415
HP:0040195	Decreased head circumference	3899	AFF3	OMIM:619297
HP:0040195	Decreased head circumference	36	ACADSB	OMIM:610006
HP:0040195	Decreased head circumference	8546	AP3B1	OMIM:608233
HP:0040195	Decreased head circumference	51199	NIN	OMIM:614851
HP:0040195	Decreased head circumference	51199	NIN	ORPHA:319675
HP:0040195	Decreased head circumference	4338	MOCS2	OMIM:252160
HP:0040195	Decreased head circumference	197257	LDHD	OMIM:245450
HP:0040195	Decreased head circumference	9255	AIMP1	OMIM:260600
HP:0040195	Decreased head circumference	6804	STX1A	ORPHA:904
HP:0040195	Decreased head circumference	7461	CLIP2	ORPHA:904
HP:0040195	Decreased head circumference	84277	DNAJC30	ORPHA:904
HP:0040195	Decreased head circumference	8468	FKBP6	ORPHA:904
HP:0040195	Decreased head circumference	5982	RFC2	ORPHA:904
HP:0040195	Decreased head circumference	2969	GTF2I	ORPHA:904
HP:0040195	Decreased head circumference	3984	LIMK1	ORPHA:904
HP:0040195	Decreased head circumference	9569	GTF2IRD1	ORPHA:904
HP:0040195	Decreased head circumference	155382	VPS37D	ORPHA:904
HP:0040195	Decreased head circumference	155368	METTL27	ORPHA:904
HP:0040195	Decreased head circumference	114049	BUD23	ORPHA:904
HP:0040195	Decreased head circumference	7458	EIF4H	ORPHA:904
HP:0040195	Decreased head circumference	84163	GTF2IRD2	ORPHA:904
HP:0040195	Decreased head circumference	9275	BCL7B	ORPHA:904
HP:0040195	Decreased head circumference	26608	TBL2	ORPHA:904
HP:0040195	Decreased head circumference	653361	NCF1	ORPHA:904
HP:0040195	Decreased head circumference	135886	TMEM270	ORPHA:904
HP:0040195	Decreased head circumference	51085	MLXIPL	ORPHA:904
HP:0040195	Decreased head circumference	9031	BAZ1B	ORPHA:904
HP:0040195	Decreased head circumference	5297	PI4KA	ORPHA:98889
HP:0040195	Decreased head circumference	27286	SRPX2	ORPHA:98889
HP:0040195	Decreased head circumference	375748	ERCC6L2	OMIM:615715
HP:0040195	Decreased head circumference	93210	PGAP3	OMIM:615716
HP:0040195	Decreased head circumference	2521	FUS	ORPHA:300605
HP:0040195	Decreased head circumference	80208	SPG11	ORPHA:300605
HP:0040195	Decreased head circumference	10280	SIGMAR1	ORPHA:300605
HP:0040195	Decreased head circumference	10558	SPTLC1	ORPHA:300605
HP:0040195	Decreased head circumference	6628	SNRPB	ORPHA:1393
HP:0040195	Decreased head circumference	6628	SNRPB	OMIM:117650
HP:0040195	Decreased head circumference	162417	NAGS	ORPHA:927
HP:0040195	Decreased head circumference	50628	GEMIN4	OMIM:617913
HP:0040195	Decreased head circumference	5824	PEX19	OMIM:614886
HP:0040195	Decreased head circumference	5824	PEX19	ORPHA:912
HP:0040195	Decreased head circumference	867	CBL	OMIM:613563
HP:0040195	Decreased head circumference	55670	PEX26	ORPHA:912
HP:0040195	Decreased head circumference	5828	PEX2	ORPHA:912
HP:0040195	Decreased head circumference	8504	PEX3	ORPHA:912
HP:0040195	Decreased head circumference	8799	PEX11B	ORPHA:912
HP:0040195	Decreased head circumference	9409	PEX16	ORPHA:912
HP:0040195	Decreased head circumference	5190	PEX6	ORPHA:912
HP:0040195	Decreased head circumference	5189	PEX1	ORPHA:912
HP:0040195	Decreased head circumference	5193	PEX12	ORPHA:912
HP:0040195	Decreased head circumference	5194	PEX13	ORPHA:912
HP:0040195	Decreased head circumference	5195	PEX14	ORPHA:912
HP:0040195	Decreased head circumference	5192	PEX10	ORPHA:912
HP:0040195	Decreased head circumference	7507	XPA	ORPHA:910
HP:0040195	Decreased head circumference	7507	XPA	OMIM:278700
HP:0040195	Decreased head circumference	7508	XPC	ORPHA:910
HP:0040195	Decreased head circumference	1643	DDB2	ORPHA:910
HP:0040195	Decreased head circumference	4173	MCM4	OMIM:609981
HP:0040195	Decreased head circumference	55187	VPS13D	OMIM:607317
HP:0040195	Decreased head circumference	10157	AASS	ORPHA:2203
HP:0040195	Decreased head circumference	79631	EFL1	OMIM:617941
HP:0040195	Decreased head circumference	5429	POLH	OMIM:278750
HP:0040195	Decreased head circumference	101929726	MYMX	ORPHA:1358
HP:0040195	Decreased head circumference	2058	EPRS1	OMIM:617951
HP:0040195	Decreased head circumference	1063	CENPF	OMIM:243605
HP:0040195	Decreased head circumference	9361	LONP1	ORPHA:79243
HP:0040195	Decreased head circumference	20	ABCA2	OMIM:618808
HP:0040195	Decreased head circumference	91647	ATPAF2	OMIM:604273
HP:0040195	Decreased head circumference	1729	DIAPH1	OMIM:616632
HP:0040195	Decreased head circumference	175	AGA	OMIM:208400
HP:0040195	Decreased head circumference	6785	ELOVL4	OMIM:614457
HP:0040195	Decreased head circumference	9419	CRIPT	OMIM:615789
HP:0040195	Decreased head circumference	27010	TPK1	OMIM:614458
HP:0040195	Decreased head circumference	2584	GALK1	ORPHA:79237
HP:0040195	Decreased head circumference	7874	USP7	ORPHA:500055
HP:0040195	Decreased head circumference	11019	LIAS	OMIM:614462
HP:0040195	Decreased head circumference	4337	MOCS1	OMIM:252150
HP:0040195	Decreased head circumference	29957	SLC25A24	OMIM:612289
HP:0040195	Decreased head circumference	3704	ITPA	OMIM:616647
HP:0040195	Decreased head circumference	56270	WDR45B	OMIM:617977
HP:0040195	Decreased head circumference	54870	QRICH1	OMIM:617982
HP:0040195	Decreased head circumference	6911	TBX6	ORPHA:1797
HP:0040195	Decreased head circumference	23397	NCAPH	OMIM:617985
HP:0040195	Decreased head circumference	54676	GTPBP2	OMIM:617988
HP:0040195	Decreased head circumference	158326	FREM1	OMIM:614485
HP:0040195	Decreased head circumference	200205	IBA57	OMIM:615330
HP:0040195	Decreased head circumference	25974	MMACHC	ORPHA:79282
HP:0040195	Decreased head circumference	25974	MMACHC	OMIM:277400
HP:0040195	Decreased head circumference	23133	PHF8	OMIM:300263
HP:0040195	Decreased head circumference	51733	UPB1	OMIM:613161
HP:0040195	Decreased head circumference	23001	WDFY3	OMIM:617520
HP:0040195	Decreased head circumference	79587	CARS2	OMIM:616672
HP:0040195	Decreased head circumference	35	ACADS	ORPHA:26792
HP:0040195	Decreased head circumference	55753	OGDHL	OMIM:619701
HP:0040195	Decreased head circumference	5052	PRDX1	OMIM:277400
HP:0040195	Decreased head circumference	91949	COG7	OMIM:608779
HP:0040195	Decreased head circumference	91949	COG7	ORPHA:79333
HP:0040195	Decreased head circumference	4204	MECP2	OMIM:300673
HP:0040195	Decreased head circumference	4204	MECP2	ORPHA:778
HP:0040195	Decreased head circumference	6792	CDKL5	OMIM:300672
HP:0040195	Decreased head circumference	1267	CNP	OMIM:619071
HP:0040195	Decreased head circumference	10617	STAMBP	OMIM:614261
HP:0040195	Decreased head circumference	91452	ACBD5	OMIM:618863
HP:0040195	Decreased head circumference	84879	MFSD2A	OMIM:616486
HP:0040195	Decreased head circumference	7737	RNF113A	OMIM:300953
HP:0040195	Decreased head circumference	51660	MPC1	OMIM:614741
HP:0040195	Decreased head circumference	1161	ERCC8	ORPHA:90324
HP:0040195	Decreased head circumference	2074	ERCC6	ORPHA:90324
HP:0040195	Decreased head circumference	10564	ARFGEF2	OMIM:608097
HP:0040195	Decreased head circumference	2290	FOXG1	OMIM:613454
HP:0040195	Decreased head circumference	8573	CASK	OMIM:300749
HP:0040195	Decreased head circumference	4719	NDUFS1	OMIM:618226
HP:0040195	Decreased head circumference	55627	SMPD4	OMIM:618622
HP:0040195	Decreased head circumference	8818	DPM2	ORPHA:329178
HP:0040195	Decreased head circumference	11340	EXOSC8	ORPHA:2254
HP:0040195	Decreased head circumference	5393	EXOSC9	ORPHA:2254
HP:0040195	Decreased head circumference	23287	AGTPBP1	ORPHA:2254
HP:0040195	Decreased head circumference	51010	EXOSC3	ORPHA:2254
HP:0040195	Decreased head circumference	51010	EXOSC3	OMIM:614678
HP:0040195	Decreased head circumference	7443	VRK1	ORPHA:2254
HP:0040195	Decreased head circumference	91137	SLC25A46	ORPHA:2254
HP:0040195	Decreased head circumference	51091	SEPSECS	OMIM:613811
HP:0040195	Decreased head circumference	51091	SEPSECS	ORPHA:2524
HP:0040195	Decreased head circumference	22845	DOLK	ORPHA:91131
HP:0040195	Decreased head circumference	132158	GLYCTK	ORPHA:941
HP:0040195	Decreased head circumference	56052	ALG1	ORPHA:79327
HP:0040195	Decreased head circumference	79796	ALG9	ORPHA:79328
HP:0040195	Decreased head circumference	4247	MGAT2	ORPHA:79329
HP:0040195	Decreased head circumference	11277	TREX1	OMIM:225750
HP:0040195	Decreased head circumference	8318	CDC45	OMIM:617063
HP:0040195	Decreased head circumference	122553	TRAPPC6B	OMIM:617862
HP:0040195	Decreased head circumference	5859	QARS1	OMIM:615760
HP:0040195	Decreased head circumference	116461	TSEN15	OMIM:617026
HP:0040195	Decreased head circumference	116461	TSEN15	ORPHA:2524
HP:0040195	Decreased head circumference	9326	ZNHIT3	OMIM:260565
HP:0040195	Decreased head circumference	51741	WWOX	OMIM:616211
HP:0040195	Decreased head circumference	283989	TSEN54	ORPHA:2524
HP:0040195	Decreased head circumference	283989	TSEN54	OMIM:277470
HP:0040195	Decreased head circumference	79042	TSEN34	ORPHA:2524
HP:0040195	Decreased head circumference	80746	TSEN2	ORPHA:2524
HP:0040195	Decreased head circumference	80746	TSEN2	OMIM:612389
HP:0040195	Decreased head circumference	57688	ZSWIM6	OMIM:617865
HP:0040195	Decreased head circumference	2137	EXTL3	OMIM:617425
HP:0040195	Decreased head circumference	4190	MDH1	OMIM:618959
HP:0040195	Decreased head circumference	55704	CCDC88A	OMIM:617507
HP:0040195	Decreased head circumference	998	CDC42	OMIM:616737
HP:0040195	Decreased head circumference	6334	SCN8A	OMIM:614558
HP:0040195	Decreased head circumference	50	ACO2	OMIM:614559
HP:0040195	Decreased head circumference	84197	POMK	OMIM:615249
HP:0040195	Decreased head circumference	57038	RARS2	OMIM:611523
HP:0040195	Decreased head circumference	6509	SLC1A4	OMIM:616657
HP:0040195	Decreased head circumference	10978	CLP1	OMIM:615803
HP:0040195	Decreased head circumference	54862	CC2D1A	OMIM:608443
HP:0040195	Decreased head circumference	9382	COG1	OMIM:611209
HP:0040195	Decreased head circumference	9382	COG1	ORPHA:263508
HP:0040195	Decreased head circumference	2891	GRIA2	OMIM:618917
HP:0040195	Decreased head circumference	23065	EMC1	ORPHA:480898
HP:0040195	Decreased head circumference	63908	NAPB	OMIM:620033
HP:0040195	Decreased head circumference	9342	SNAP29	OMIM:609528
HP:0040195	Decreased head circumference	51651	PTRH2	OMIM:616263
HP:0040195	Decreased head circumference	23545	ATP6V0A2	ORPHA:357074
HP:0040195	Decreased head circumference	23545	ATP6V0A2	ORPHA:2834
HP:0040195	Decreased head circumference	23545	ATP6V0A2	OMIM:278250
HP:0040195	Decreased head circumference	523	ATP6V1A	ORPHA:357074
HP:0040195	Decreased head circumference	529	ATP6V1E1	ORPHA:357074
HP:0040195	Decreased head circumference	440	ASNS	OMIM:615574
HP:0040195	Decreased head circumference	5538	PPT1	OMIM:256730
HP:0040195	Decreased head circumference	6709	SPTAN1	OMIM:613477
HP:0040195	Decreased head circumference	55275	VPS53	OMIM:615851
HP:0040195	Decreased head circumference	203190	LGI3	OMIM:620007
HP:0040195	Decreased head circumference	2806	GOT2	OMIM:618721
HP:0040195	Decreased head circumference	51294	PCDH12	OMIM:251280
HP:0040195	Decreased head circumference	29920	PYCR2	ORPHA:481152
HP:0040195	Decreased head circumference	114034	TOE1	OMIM:614969
HP:0040195	Decreased head circumference	5048	PAFAH1B1	ORPHA:95232
HP:0040195	Decreased head circumference	3913	LAMB2	OMIM:609049
HP:0040195	Decreased head circumference	84153	RNASEH2C	OMIM:610329
HP:0040195	Decreased head circumference	83480	PUS3	ORPHA:488627
HP:0040195	Decreased head circumference	79087	ALG12	ORPHA:79324
HP:0040195	Decreased head circumference	79087	ALG12	OMIM:607143
HP:0040195	Decreased head circumference	2801	GOLGA2	OMIM:620240
HP:0040195	Decreased head circumference	23096	IQSEC2	ORPHA:397933
HP:0040195	Decreased head circumference	55163	PNPO	OMIM:610090
HP:0040195	Decreased head circumference	84188	FAR1	ORPHA:438178
HP:0040195	Decreased head circumference	10844	TUBGCP2	OMIM:618737
HP:0040195	Decreased head circumference	221927	BRAT1	OMIM:614498
HP:0040195	Decreased head circumference	84342	COG8	ORPHA:95428
HP:0040195	Decreased head circumference	11284	PNKP	OMIM:613402
HP:0040195	Decreased head circumference	10535	RNASEH2A	OMIM:610333
HP:0040195	Decreased head circumference	7407	VARS1	OMIM:617802
HP:0040195	Decreased head circumference	9373	PLAA	OMIM:617527
HP:0040195	Decreased head circumference	27445	PCLO	OMIM:608027
HP:0040195	Decreased head circumference	9343	EFTUD2	OMIM:610536
HP:0040195	Decreased head circumference	23516	SLC39A14	ORPHA:521406
HP:0040195	Decreased head circumference	6513	SLC2A1	ORPHA:71277
HP:0040195	Decreased head circumference	1967	EIF2B1	OMIM:603896
HP:0040195	Decreased head circumference	7337	UBE3A	ORPHA:98794
HP:0040195	Decreased head circumference	7337	UBE3A	ORPHA:98795
HP:0040195	Decreased head circumference	7337	UBE3A	ORPHA:411511
HP:0040195	Decreased head circumference	7337	UBE3A	ORPHA:411515
HP:0040195	Decreased head circumference	4948	OCA2	ORPHA:98794
HP:0040195	Decreased head circumference	57194	ATP10A	ORPHA:411515
HP:0040195	Decreased head circumference	9853	RUSC2	OMIM:617773
HP:0040195	Decreased head circumference	83700	JAM3	OMIM:613730
HP:0040195	Decreased head circumference	53616	ADAM22	OMIM:617933
HP:0040195	Decreased head circumference	6571	SLC18A2	ORPHA:352649
HP:0040195	Decreased head circumference	22854	NTNG1	ORPHA:3095
HP:0040195	Decreased head circumference	55610	VPS50	OMIM:619685
HP:0040195	Decreased head circumference	51506	UFC1	OMIM:618076
HP:0040195	Decreased head circumference	6392	SDHD	OMIM:619167
HP:0040195	Decreased head circumference	9915	ARNT2	OMIM:615926
HP:0040195	Decreased head circumference	271	AMPD2	OMIM:615809
HP:0040195	Decreased head circumference	79068	FTO	OMIM:612938
HP:0040195	Decreased head circumference	22796	COG2	OMIM:617395
HP:0040195	Decreased head circumference	22796	COG2	ORPHA:435934
HP:0040195	Decreased head circumference	9512	PMPCB	OMIM:617954
HP:0040195	Decreased head circumference	5119	CHMP1A	OMIM:614961
HP:0040195	Decreased head circumference	9692	PRORP	OMIM:619737
HP:0040195	Decreased head circumference	8560	DEGS1	OMIM:618404
HP:0040195	Decreased head circumference	55858	TMEM165	OMIM:614727
HP:0040195	Decreased head circumference	54675	CRLS1	OMIM:620167
HP:0040195	Decreased head circumference	10087	CERT1	OMIM:616351
HP:0040195	Decreased head circumference	22884	WDR37	OMIM:618652
HP:0040195	Decreased head circumference	3188	HNRNPH2	OMIM:300986
HP:0040195	Decreased head circumference	1641	DCX	ORPHA:2148
HP:0040195	Decreased head circumference	11212	PLPBP	OMIM:617290
HP:0040195	Decreased head circumference	51501	HIKESHI	OMIM:616881
HP:0040195	Decreased head circumference	57468	SLC12A5	OMIM:616645
HP:0040195	Decreased head circumference	4659	PPP1R12A	OMIM:618820
HP:0040195	Decreased head circumference	10236	HNRNPR	OMIM:620073
HP:0040195	Decreased head circumference	56947	MFF	ORPHA:485421
HP:0040195	Decreased head circumference	56947	MFF	OMIM:617086
HP:0040195	Decreased head circumference	539	ATP5PO	OMIM:620359
HP:0040195	Decreased head circumference	9440	MED17	OMIM:613668
HP:0040195	Decreased head circumference	118924	FRA10AC1	OMIM:620113
HP:0040195	Decreased head circumference	8813	DPM1	OMIM:608799
HP:0040195	Decreased head circumference	8813	DPM1	ORPHA:79322
HP:0040195	Decreased head circumference	125988	MICOS13	OMIM:618329
HP:0040195	Decreased head circumference	1719	DHFR	OMIM:613839
HP:0040195	Decreased head circumference	10079	ATP9A	OMIM:620242
HP:0040195	Decreased head circumference	205327	C2orf69	OMIM:619423
HP:0040195	Decreased head circumference	1496	CTNNA2	OMIM:618174
HP:0040195	Decreased head circumference	51693	TRAPPC2L	OMIM:618331
HP:0040195	Decreased head circumference	57017	COQ9	OMIM:614654
HP:0040195	Decreased head circumference	27429	HTRA2	OMIM:617248
HP:0040195	Decreased head circumference	3329	HSPD1	OMIM:612233
HP:0040195	Decreased head circumference	55770	EXOC2	OMIM:619306
HP:0040195	Decreased head circumference	2744	GLS	OMIM:618339
HP:0040195	Decreased head circumference	80347	COASY	OMIM:618266
HP:0040195	Decreased head circumference	2903	GRIN2A	OMIM:245570
HP:0040195	Decreased head circumference	2903	GRIN2A	ORPHA:289266
HP:0040195	Decreased head circumference	8405	SPOP	OMIM:618828
HP:0040195	Decreased head circumference	51124	IER3IP1	OMIM:614231
HP:0040195	Decreased head circumference	9918	NCAPD2	OMIM:617983
HP:0040195	Decreased head circumference	27185	DISC1	ORPHA:171703
HP:0040195	Decreased head circumference	8320	EOMES	ORPHA:171703
HP:0040195	Decreased head circumference	1984	EIF5A	OMIM:619376
HP:0040195	Decreased head circumference	23511	NUP188	OMIM:618804
HP:0040195	Decreased head circumference	10015	PDCD6IP	OMIM:620047
HP:0040195	Decreased head circumference	8604	SLC25A12	OMIM:612949
HP:0040195	Decreased head circumference	6045	RNF2	OMIM:619460
HP:0040195	Decreased head circumference	84823	LMNB2	OMIM:619180
HP:0040195	Decreased head circumference	55697	VAC14	ORPHA:3472
HP:0040195	Decreased head circumference	79023	NUP37	OMIM:618179
HP:0040195	Decreased head circumference	4905	NSF	OMIM:619340
HP:0040195	Decreased head circumference	5283	PIGH	OMIM:618010
HP:0040195	Decreased head circumference	9181	ARHGEF2	OMIM:617523
HP:0040195	Decreased head circumference	23309	SIN3B	ORPHA:500166
HP:0040195	Decreased head circumference	84992	PIGY	ORPHA:247262
HP:0040195	Decreased head circumference	284098	PIGW	ORPHA:247262
HP:0040195	Decreased head circumference	55650	PIGV	ORPHA:247262
HP:0040195	Decreased head circumference	9487	PIGL	ORPHA:247262
HP:0040195	Decreased head circumference	2581	GALC	ORPHA:206436
HP:0040195	Decreased head circumference	5660	PSAP	ORPHA:206436
HP:0040195	Decreased head circumference	57589	RIC1	OMIM:618761
HP:0040195	Decreased head circumference	387119	CEP85L	OMIM:618873
HP:0040195	Decreased head circumference	55280	CWF19L1	ORPHA:453521
HP:0040195	Decreased head circumference	55280	CWF19L1	OMIM:616127
HP:0040195	Decreased head circumference	6389	SDHA	ORPHA:3208
HP:0040195	Decreased head circumference	644096	SDHAF1	ORPHA:3208
HP:0040195	Decreased head circumference	5324	PLAG1	OMIM:618907
HP:0040196	Mild microcephaly	7337	UBE3A	ORPHA:98794
HP:0040196	Mild microcephaly	7337	UBE3A	ORPHA:411511
HP:0040196	Mild microcephaly	4948	OCA2	ORPHA:98794
HP:0040196	Mild microcephaly	79228	THOC6	ORPHA:363444
HP:0040196	Mild microcephaly	83696	TRAPPC9	OMIM:613192
HP:0040196	Mild microcephaly	57589	RIC1	OMIM:618761
HP:0040196	Mild microcephaly	387119	CEP85L	OMIM:618873
HP:0040196	Mild microcephaly	57511	COG6	ORPHA:363523
HP:0040196	Mild microcephaly	55280	CWF19L1	ORPHA:453521
HP:0040196	Mild microcephaly	55280	CWF19L1	OMIM:616127
HP:0040196	Mild microcephaly	443	ASPA	ORPHA:314918
HP:0040196	Mild microcephaly	2904	GRIN2B	OMIM:616139
HP:0040196	Mild microcephaly	6389	SDHA	ORPHA:3208
HP:0040196	Mild microcephaly	6390	SDHB	ORPHA:3208
HP:0040196	Mild microcephaly	6392	SDHD	ORPHA:3208
HP:0040196	Mild microcephaly	644096	SDHAF1	ORPHA:3208
HP:0040196	Mild microcephaly	2627	GATA6	ORPHA:2255
HP:0040196	Mild microcephaly	51574	LARP7	ORPHA:319671
HP:0040196	Mild microcephaly	5324	PLAG1	OMIM:618907
HP:0040197	Encephalomalacia	1788	DNMT3A	OMIM:615879
HP:0040197	Encephalomalacia	4488	MSX2	ORPHA:60015
HP:0040197	Encephalomalacia	60529	ALX4	ORPHA:60015
HP:0040197	Encephalomalacia	57169	ZNFX1	OMIM:619644
HP:0040197	Encephalomalacia	10367	MICU1	OMIM:615673
HP:0040197	Encephalomalacia	5167	ENPP1	ORPHA:51608
HP:0040197	Encephalomalacia	368	ABCC6	ORPHA:51608
HP:0040197	Encephalomalacia	55901	THSD1	ORPHA:231160
HP:0040197	Encephalomalacia	7049	TGFBR3	ORPHA:231160
HP:0040197	Encephalomalacia	1281	COL3A1	ORPHA:231160
HP:0040197	Encephalomalacia	83854	ANGPTL6	ORPHA:231160
HP:0040197	Encephalomalacia	2022	ENG	ORPHA:231160
HP:0040198	Non-medullary thyroid carcinoma	3026	HABP2	OMIM:616535
HP:0040198	Non-medullary thyroid carcinoma	7080	NKX2-1	OMIM:188550
HP:0040198	Non-medullary thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0040198	Non-medullary thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0040198	Non-medullary thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0040198	Non-medullary thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0011800	Midface retrusion	10682	EBP	ORPHA:401973
HP:0011800	Midface retrusion	10682	EBP	OMIM:300960
HP:0011800	Midface retrusion	50964	SOST	OMIM:269500
HP:0011800	Midface retrusion	1280	COL2A1	OMIM:271700
HP:0011800	Midface retrusion	1280	COL2A1	OMIM:151210
HP:0011800	Midface retrusion	1280	COL2A1	OMIM:108300
HP:0011800	Midface retrusion	1280	COL2A1	ORPHA:93296
HP:0011800	Midface retrusion	1280	COL2A1	OMIM:609508
HP:0011800	Midface retrusion	1280	COL2A1	OMIM:156550
HP:0011800	Midface retrusion	5573	PRKAR1A	ORPHA:950
HP:0011800	Midface retrusion	5573	PRKAR1A	OMIM:101800
HP:0011800	Midface retrusion	5573	PRKAR1A	ORPHA:280651
HP:0011800	Midface retrusion	5144	PDE4D	ORPHA:950
HP:0011800	Midface retrusion	5144	PDE4D	OMIM:614613
HP:0011800	Midface retrusion	5144	PDE4D	ORPHA:280651
HP:0011800	Midface retrusion	10128	LRPPRC	OMIM:220111
HP:0011800	Midface retrusion	2077	ERF	OMIM:600775
HP:0011800	Midface retrusion	2077	ERF	ORPHA:207
HP:0011800	Midface retrusion	9131	AIFM1	OMIM:300232
HP:0011800	Midface retrusion	9131	AIFM1	ORPHA:83629
HP:0011800	Midface retrusion	6535	SLC6A8	OMIM:300352
HP:0011800	Midface retrusion	10262	SF3B4	OMIM:154400
HP:0011800	Midface retrusion	1183	CLCN4	OMIM:300114
HP:0011800	Midface retrusion	1183	CLCN4	ORPHA:485350
HP:0011800	Midface retrusion	9871	SEC24D	ORPHA:2050
HP:0011800	Midface retrusion	9871	SEC24D	OMIM:616294
HP:0011800	Midface retrusion	5034	P4HB	ORPHA:2050
HP:0011800	Midface retrusion	5034	P4HB	OMIM:112240
HP:0011800	Midface retrusion	28981	IFT81	OMIM:617895
HP:0011800	Midface retrusion	5728	PTEN	OMIM:605309
HP:0011800	Midface retrusion	8425	LTBP4	OMIM:613177
HP:0011800	Midface retrusion	1355	COX15	OMIM:615119
HP:0011800	Midface retrusion	9820	CUL7	ORPHA:2616
HP:0011800	Midface retrusion	23363	OBSL1	ORPHA:2616
HP:0011800	Midface retrusion	83987	CCDC8	ORPHA:2616
HP:0011800	Midface retrusion	83987	CCDC8	OMIM:614205
HP:0011800	Midface retrusion	57539	WDR35	OMIM:613610
HP:0011800	Midface retrusion	55624	POMGNT1	OMIM:253280
HP:0011800	Midface retrusion	84942	WDR73	OMIM:251300
HP:0011800	Midface retrusion	4000	LMNA	OMIM:176670
HP:0011800	Midface retrusion	126792	B3GALT6	OMIM:609465
HP:0011800	Midface retrusion	126792	B3GALT6	OMIM:271640
HP:0011800	Midface retrusion	126792	B3GALT6	ORPHA:536467
HP:0011800	Midface retrusion	1299	COL9A3	OMIM:620022
HP:0011800	Midface retrusion	23126	POGZ	ORPHA:468678
HP:0011800	Midface retrusion	5447	POR	ORPHA:95699
HP:0011800	Midface retrusion	5447	POR	OMIM:201750
HP:0011800	Midface retrusion	5447	POR	OMIM:207410
HP:0011800	Midface retrusion	1836	SLC26A2	ORPHA:56304
HP:0011800	Midface retrusion	1836	SLC26A2	ORPHA:628
HP:0011800	Midface retrusion	1836	SLC26A2	OMIM:256050
HP:0011800	Midface retrusion	114803	MYSM1	ORPHA:508542
HP:0011800	Midface retrusion	114803	MYSM1	OMIM:618116
HP:0011800	Midface retrusion	267010	RNU12	OMIM:603116
HP:0011800	Midface retrusion	3481	IGF2	ORPHA:231144
HP:0011800	Midface retrusion	3481	IGF2	OMIM:130650
HP:0011800	Midface retrusion	283120	H19	ORPHA:231144
HP:0011800	Midface retrusion	8443	GNPAT	OMIM:222765
HP:0011800	Midface retrusion	3020	H3-3A	OMIM:619720
HP:0011800	Midface retrusion	3021	H3-3B	OMIM:619721
HP:0011800	Midface retrusion	55159	RFWD3	OMIM:617784
HP:0011800	Midface retrusion	2317	FLNB	ORPHA:1190
HP:0011800	Midface retrusion	2317	FLNB	OMIM:108721
HP:0011800	Midface retrusion	2317	FLNB	OMIM:108720
HP:0011800	Midface retrusion	2317	FLNB	OMIM:150250
HP:0011800	Midface retrusion	51506	UFC1	OMIM:618076
HP:0011800	Midface retrusion	1855	DVL1	OMIM:616331
HP:0011800	Midface retrusion	1855	DVL1	ORPHA:3107
HP:0011800	Midface retrusion	1855	DVL1	OMIM:180700
HP:0011800	Midface retrusion	55790	CSGALNACT1	OMIM:618870
HP:0011800	Midface retrusion	22858	CILK1	OMIM:612651
HP:0011800	Midface retrusion	10730	YME1L1	OMIM:617302
HP:0011800	Midface retrusion	2314	FLII	ORPHA:819
HP:0011800	Midface retrusion	23096	IQSEC2	ORPHA:819
HP:0011800	Midface retrusion	10743	RAI1	ORPHA:819
HP:0011800	Midface retrusion	10743	RAI1	OMIM:182290
HP:0011800	Midface retrusion	10522	DEAF1	ORPHA:819
HP:0011800	Midface retrusion	6662	SOX9	OMIM:114290
HP:0011800	Midface retrusion	5818	NECTIN1	ORPHA:3253
HP:0011800	Midface retrusion	271	AMPD2	OMIM:615809
HP:0011800	Midface retrusion	9382	COG1	OMIM:611209
HP:0011800	Midface retrusion	55650	PIGV	OMIM:239300
HP:0011800	Midface retrusion	1301	COL11A1	OMIM:154780
HP:0011800	Midface retrusion	1301	COL11A1	ORPHA:440354
HP:0011800	Midface retrusion	1301	COL11A1	OMIM:604841
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:87
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:93260
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:93258
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:168624
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:123790
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:101200
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:123500
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:207410
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:207
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:614592
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:1555
HP:0011800	Midface retrusion	2263	FGFR2	OMIM:123150
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:1540
HP:0011800	Midface retrusion	2263	FGFR2	ORPHA:313855
HP:0011800	Midface retrusion	54	ACP5	OMIM:607944
HP:0011800	Midface retrusion	54	ACP5	ORPHA:1855
HP:0011800	Midface retrusion	56992	KIF15	ORPHA:261323
HP:0011800	Midface retrusion	1298	COL9A2	OMIM:614284
HP:0011800	Midface retrusion	1298	COL9A2	OMIM:600204
HP:0011800	Midface retrusion	25885	POLR1A	OMIM:616462
HP:0011800	Midface retrusion	816	CAMK2B	OMIM:617799
HP:0011800	Midface retrusion	2200	FBN1	ORPHA:2833
HP:0011800	Midface retrusion	64359	NXN	OMIM:618529
HP:0011800	Midface retrusion	64359	NXN	ORPHA:1507
HP:0011800	Midface retrusion	9326	ZNHIT3	ORPHA:2836
HP:0011800	Midface retrusion	547	KIF1A	ORPHA:2836
HP:0011800	Midface retrusion	23184	MESD	OMIM:618644
HP:0011800	Midface retrusion	55858	TMEM165	OMIM:614727
HP:0011800	Midface retrusion	4920	ROR2	ORPHA:1507
HP:0011800	Midface retrusion	4920	ROR2	OMIM:268310
HP:0011800	Midface retrusion	546	ATRX	ORPHA:847
HP:0011800	Midface retrusion	546	ATRX	OMIM:309580
HP:0011800	Midface retrusion	546	ATRX	OMIM:301040
HP:0011800	Midface retrusion	2260	FGFR1	ORPHA:93258
HP:0011800	Midface retrusion	2260	FGFR1	OMIM:166250
HP:0011800	Midface retrusion	2260	FGFR1	OMIM:123150
HP:0011800	Midface retrusion	79087	ALG12	OMIM:607143
HP:0011800	Midface retrusion	79087	ALG12	ORPHA:79324
HP:0011800	Midface retrusion	1302	COL11A2	OMIM:184840
HP:0011800	Midface retrusion	1302	COL11A2	OMIM:614524
HP:0011800	Midface retrusion	1302	COL11A2	OMIM:215150
HP:0011800	Midface retrusion	1302	COL11A2	ORPHA:1427
HP:0011800	Midface retrusion	283989	TSEN54	ORPHA:166063
HP:0011800	Midface retrusion	10484	SEC23A	OMIM:607812
HP:0011800	Midface retrusion	23347	SMCHD1	OMIM:603457
HP:0011800	Midface retrusion	652	BMP4	OMIM:607932
HP:0011800	Midface retrusion	1105	CHD1	OMIM:617682
HP:0011800	Midface retrusion	1105	CHD1	ORPHA:529965
HP:0011800	Midface retrusion	860	RUNX2	OMIM:119600
HP:0011800	Midface retrusion	860	RUNX2	ORPHA:1452
HP:0011800	Midface retrusion	4330	MN1	OMIM:618774
HP:0011800	Midface retrusion	57178	ZMIZ1	OMIM:618659
HP:0011800	Midface retrusion	79813	EHMT1	OMIM:610253
HP:0011800	Midface retrusion	79813	EHMT1	ORPHA:261652
HP:0011800	Midface retrusion	79813	EHMT1	ORPHA:96147
HP:0011800	Midface retrusion	1954	MEGF8	OMIM:614976
HP:0011800	Midface retrusion	23314	SATB2	OMIM:612313
HP:0011800	Midface retrusion	26057	ANKRD17	OMIM:619504
HP:0011800	Midface retrusion	8642	DCHS1	OMIM:601390
HP:0011800	Midface retrusion	26040	SETBP1	OMIM:269150
HP:0011800	Midface retrusion	26040	SETBP1	ORPHA:798
HP:0011800	Midface retrusion	2296	FOXC1	OMIM:602482
HP:0011800	Midface retrusion	2296	FOXC1	ORPHA:782
HP:0011800	Midface retrusion	6234	RPS28	OMIM:606164
HP:0011800	Midface retrusion	2615	LRRC32	OMIM:619074
HP:0011800	Midface retrusion	11285	B4GALT7	OMIM:130070
HP:0011800	Midface retrusion	55768	NGLY1	OMIM:615273
HP:0011800	Midface retrusion	2261	FGFR3	OMIM:616482
HP:0011800	Midface retrusion	2261	FGFR3	OMIM:100800
HP:0011800	Midface retrusion	2261	FGFR3	ORPHA:35099
HP:0011800	Midface retrusion	2261	FGFR3	OMIM:187600
HP:0011800	Midface retrusion	2261	FGFR3	OMIM:612247
HP:0011800	Midface retrusion	2261	FGFR3	OMIM:602849
HP:0011800	Midface retrusion	5311	PKD2	OMIM:613095
HP:0011800	Midface retrusion	1182	CLCN3	OMIM:619512
HP:0011800	Midface retrusion	85301	COL27A1	OMIM:615155
HP:0011800	Midface retrusion	3590	IL11RA	OMIM:614188
HP:0011800	Midface retrusion	5626	PROP1	ORPHA:226307
HP:0011800	Midface retrusion	89884	LHX4	ORPHA:226307
HP:0011800	Midface retrusion	8022	LHX3	ORPHA:226307
HP:0011800	Midface retrusion	5449	POU1F1	ORPHA:226307
HP:0011800	Midface retrusion	5449	POU1F1	OMIM:613038
HP:0011800	Midface retrusion	8820	HESX1	ORPHA:226307
HP:0011800	Midface retrusion	1857	DVL3	ORPHA:3107
HP:0011800	Midface retrusion	1857	DVL3	OMIM:616894
HP:0011800	Midface retrusion	7474	WNT5A	ORPHA:3107
HP:0011800	Midface retrusion	7474	WNT5A	OMIM:180700
HP:0011800	Midface retrusion	2535	FZD2	ORPHA:3107
HP:0011800	Midface retrusion	55699	IARS2	OMIM:616007
HP:0011800	Midface retrusion	3211	HOXB1	OMIM:614744
HP:0011800	Midface retrusion	5590	PRKCZ	ORPHA:1606
HP:0011800	Midface retrusion	2563	GABRD	ORPHA:1606
HP:0011800	Midface retrusion	23013	SPEN	ORPHA:1606
HP:0011800	Midface retrusion	8510	MMP23B	ORPHA:1606
HP:0011800	Midface retrusion	7798	LUZP1	ORPHA:1606
HP:0011800	Midface retrusion	6497	SKI	ORPHA:1606
HP:0011800	Midface retrusion	10630	PDPN	ORPHA:1606
HP:0011800	Midface retrusion	3339	HSPG2	ORPHA:1606
HP:0011800	Midface retrusion	10277	UBE4B	ORPHA:1606
HP:0011800	Midface retrusion	8514	KCNAB2	ORPHA:1606
HP:0011800	Midface retrusion	473	RERE	ORPHA:1606
HP:0011800	Midface retrusion	63976	PRDM16	ORPHA:1606
HP:0011800	Midface retrusion	54897	CASZ1	ORPHA:1606
HP:0011800	Midface retrusion	6899	TBX1	ORPHA:1727
HP:0011800	Midface retrusion	8085	KMT2D	OMIM:620186
HP:0011800	Midface retrusion	5727	PTCH1	OMIM:610828
HP:0011800	Midface retrusion	2736	GLI2	OMIM:610829
HP:0011800	Midface retrusion	2736	GLI2	OMIM:615849
HP:0011800	Midface retrusion	4036	LRP2	OMIM:222448
HP:0011800	Midface retrusion	51611	DPH5	OMIM:620070
HP:0011800	Midface retrusion	79718	TBL1XR1	OMIM:602342
HP:0011800	Midface retrusion	5700	PSMC1	OMIM:620071
HP:0011800	Midface retrusion	26137	ZBTB20	OMIM:259050
HP:0011800	Midface retrusion	26137	ZBTB20	ORPHA:3042
HP:0011800	Midface retrusion	58508	KMT2C	ORPHA:261652
HP:0011800	Midface retrusion	58508	KMT2C	OMIM:617768
HP:0011800	Midface retrusion	4089	SMAD4	OMIM:139210
HP:0011800	Midface retrusion	4089	SMAD4	ORPHA:2588
HP:0011800	Midface retrusion	5159	PDGFRB	OMIM:601812
HP:0011800	Midface retrusion	51098	IFT52	OMIM:617102
HP:0011800	Midface retrusion	4256	MGP	ORPHA:85202
HP:0011800	Midface retrusion	4256	MGP	OMIM:245150
HP:0011800	Midface retrusion	53335	BCL11A	OMIM:617101
HP:0011800	Midface retrusion	6942	TCF20	OMIM:618430
HP:0011800	Midface retrusion	4285	MIPEP	OMIM:617228
HP:0011800	Midface retrusion	9158	FIBP	OMIM:617107
HP:0011800	Midface retrusion	9158	FIBP	ORPHA:500095
HP:0011800	Midface retrusion	4784	NFIX	OMIM:614753
HP:0011800	Midface retrusion	4784	NFIX	OMIM:602535
HP:0011800	Midface retrusion	54499	TMCO1	ORPHA:1394
HP:0011800	Midface retrusion	2316	FLNA	OMIM:304120
HP:0011800	Midface retrusion	5354	PLP1	ORPHA:280229
HP:0011800	Midface retrusion	51085	MLXIPL	OMIM:194050
HP:0011800	Midface retrusion	2006	ELN	OMIM:194050
HP:0011800	Midface retrusion	124583	CANT1	OMIM:251450
HP:0011800	Midface retrusion	3930	LBR	OMIM:215140
HP:0011800	Midface retrusion	3930	LBR	OMIM:618019
HP:0011800	Midface retrusion	3930	LBR	ORPHA:1426
HP:0011800	Midface retrusion	5295	PIK3R1	OMIM:269880
HP:0011800	Midface retrusion	5295	PIK3R1	ORPHA:3163
HP:0011800	Midface retrusion	3835	KIF22	OMIM:603546
HP:0011800	Midface retrusion	3835	KIF22	ORPHA:93360
HP:0011800	Midface retrusion	51651	PTRH2	OMIM:616263
HP:0011800	Midface retrusion	1028	CDKN1C	OMIM:130650
HP:0011800	Midface retrusion	10984	KCNQ1OT1	OMIM:130650
HP:0011800	Midface retrusion	3784	KCNQ1	OMIM:130650
HP:0011800	Midface retrusion	57479	PRR12	OMIM:619539
HP:0011800	Midface retrusion	7994	KAT6A	OMIM:616268
HP:0011800	Midface retrusion	22930	RAB3GAP1	ORPHA:1387
HP:0011800	Midface retrusion	25782	RAB3GAP2	ORPHA:1387
HP:0011800	Midface retrusion	4087	SMAD2	OMIM:619657
HP:0011800	Midface retrusion	1107	CHD3	OMIM:618205
HP:0011800	Midface retrusion	51322	WAC	OMIM:616708
HP:0011800	Midface retrusion	701	BUB1B	OMIM:257300
HP:0011800	Midface retrusion	25970	SH2B1	ORPHA:261197
HP:0011800	Midface retrusion	6261	RYR1	OMIM:619542
HP:0011800	Midface retrusion	56160	NSMCE3	OMIM:617241
HP:0011800	Midface retrusion	5881	RAC3	OMIM:618577
HP:0011800	Midface retrusion	3658	IREB2	OMIM:618451
HP:0011800	Midface retrusion	51053	GMNN	OMIM:616835
HP:0011800	Midface retrusion	1642	DDB1	OMIM:619426
HP:0011800	Midface retrusion	7319	UBE2A	ORPHA:163956
HP:0011800	Midface retrusion	7319	UBE2A	OMIM:300860
HP:0011800	Midface retrusion	6664	SOX11	OMIM:615866
HP:0011800	Midface retrusion	8216	LZTR1	OMIM:605275
HP:0011800	Midface retrusion	8216	LZTR1	ORPHA:648
HP:0011800	Midface retrusion	3720	JARID2	OMIM:620098
HP:0011800	Midface retrusion	7291	TWIST1	ORPHA:35099
HP:0011800	Midface retrusion	7291	TWIST1	OMIM:617746
HP:0011800	Midface retrusion	6938	TCF12	ORPHA:35099
HP:0011800	Midface retrusion	7545	ZIC1	ORPHA:35099
HP:0011800	Midface retrusion	9949	AMMECR1	OMIM:300990
HP:0011800	Midface retrusion	4921	DDR2	OMIM:271665
HP:0011800	Midface retrusion	4921	DDR2	OMIM:618175
HP:0011800	Midface retrusion	8243	SMC1A	OMIM:301044
HP:0011800	Midface retrusion	2290	FOXG1	OMIM:613454
HP:0011800	Midface retrusion	23394	ADNP	OMIM:615873
HP:0011800	Midface retrusion	9759	HDAC4	ORPHA:1001
HP:0011800	Midface retrusion	9759	HDAC4	OMIM:600430
HP:0011800	Midface retrusion	55628	ZNF407	OMIM:619557
HP:0011800	Midface retrusion	2690	GHR	ORPHA:314802
HP:0011800	Midface retrusion	79650	USB1	OMIM:604173
HP:0011800	Midface retrusion	55593	OTUD5	OMIM:301056
HP:0011800	Midface retrusion	5745	PTH1R	OMIM:600002
HP:0011800	Midface retrusion	5308	PITX2	ORPHA:782
HP:0011800	Midface retrusion	2972	BRF1	ORPHA:444072
HP:0011800	Midface retrusion	221496	LEMD2	OMIM:619322
HP:0011800	Midface retrusion	29998	BICRA	OMIM:619325
HP:0011800	Midface retrusion	6651	SON	OMIM:617140
HP:0011800	Midface retrusion	57520	HECW2	OMIM:617268
HP:0011800	Midface retrusion	3313	HSPA9	OMIM:616854
HP:0011800	Midface retrusion	2902	GRIN1	OMIM:617820
HP:0011800	Midface retrusion	998	CDC42	OMIM:616737
HP:0011800	Midface retrusion	998	CDC42	ORPHA:487796
HP:0011800	Midface retrusion	176	ACAN	OMIM:612813
HP:0011800	Midface retrusion	176	ACAN	ORPHA:435804
HP:0011800	Midface retrusion	176	ACAN	OMIM:165800
HP:0011800	Midface retrusion	176	ACAN	ORPHA:171866
HP:0011800	Midface retrusion	23097	CDK19	OMIM:618916
HP:0011800	Midface retrusion	56975	FAM20C	OMIM:259775
HP:0011800	Midface retrusion	4763	NF1	OMIM:601321
HP:0011800	Midface retrusion	84679	SLC9A7	OMIM:301024
HP:0011800	Midface retrusion	2239	GPC4	OMIM:301026
HP:0011800	Midface retrusion	55777	MBD5	OMIM:156200
HP:0011800	Midface retrusion	10940	POP1	OMIM:617396
HP:0011800	Midface retrusion	4125	MAN2B1	OMIM:248500
HP:0011800	Midface retrusion	5831	PYCR1	OMIM:612940
HP:0011800	Midface retrusion	29940	DSE	OMIM:615539
HP:0011800	Midface retrusion	23389	MED13L	ORPHA:369891
HP:0011800	Midface retrusion	1009	CDH11	OMIM:211380
HP:0011800	Midface retrusion	54539	NDUFB11	ORPHA:2556
HP:0011800	Midface retrusion	1349	COX7B	ORPHA:2556
HP:0011800	Midface retrusion	3052	HCCS	ORPHA:2556
HP:0011800	Midface retrusion	6469	SHH	OMIM:142945
HP:0011800	Midface retrusion	1277	COL1A1	OMIM:130060
HP:0011800	Midface retrusion	63931	MRPS14	OMIM:618378
HP:0011800	Midface retrusion	5718	PSMD12	ORPHA:529962
HP:0011800	Midface retrusion	2186	BPTF	ORPHA:529962
HP:0011800	Midface retrusion	3977	LIFR	OMIM:601559
HP:0011800	Midface retrusion	11342	RNF13	OMIM:618379
HP:0011800	Midface retrusion	11342	RNF13	ORPHA:544503
HP:0011800	Midface retrusion	79576	NKAP	OMIM:301039
HP:0011800	Midface retrusion	3188	HNRNPH2	OMIM:300986
HP:0011800	Midface retrusion	2475	MTOR	OMIM:616638
HP:0011800	Midface retrusion	79633	FAT4	OMIM:615546
HP:0011800	Midface retrusion	80781	COL18A1	ORPHA:1571
HP:0011800	Midface retrusion	80781	COL18A1	OMIM:267750
HP:0011800	Midface retrusion	5062	PAK2	ORPHA:1571
HP:0011800	Midface retrusion	6304	SATB1	OMIM:619229
HP:0011800	Midface retrusion	55644	OSGEP	OMIM:617729
HP:0011800	Midface retrusion	9343	EFTUD2	OMIM:610536
HP:0011800	Midface retrusion	60	ACTB	OMIM:243310
HP:0011800	Midface retrusion	10664	CTCF	ORPHA:363611
HP:0011800	Midface retrusion	57003	CCDC47	OMIM:618268
HP:0011800	Midface retrusion	55180	LINS1	OMIM:614340
HP:0011800	Midface retrusion	10815	CPLX1	OMIM:617976
HP:0011800	Midface retrusion	29957	SLC25A24	OMIM:612289
HP:0011800	Midface retrusion	80036	TRPM3	OMIM:620224
HP:0011800	Midface retrusion	4796	TONSL	ORPHA:93357
HP:0011800	Midface retrusion	4796	TONSL	OMIM:271510
HP:0011800	Midface retrusion	8936	WASF1	OMIM:618707
HP:0011800	Midface retrusion	23545	ATP6V0A2	OMIM:219200
HP:0011800	Midface retrusion	84172	POLR1B	ORPHA:861
HP:0011800	Midface retrusion	9533	POLR1C	ORPHA:861
HP:0011800	Midface retrusion	51082	POLR1D	ORPHA:861
HP:0011800	Midface retrusion	6949	TCOF1	ORPHA:861
HP:0011800	Midface retrusion	7204	TRIO	OMIM:617061
HP:0011800	Midface retrusion	5189	PEX1	OMIM:601539
HP:0011800	Midface retrusion	51715	RAB23	OMIM:201000
HP:0011800	Midface retrusion	83737	ITCH	OMIM:613385
HP:0011800	Midface retrusion	83737	ITCH	ORPHA:228426
HP:0011800	Midface retrusion	10220	GDF11	OMIM:619122
HP:0011800	Midface retrusion	2893	GRIA4	OMIM:617864
HP:0011800	Midface retrusion	23169	SLC35D1	OMIM:269250
HP:0011800	Midface retrusion	4094	MAF	OMIM:601088
HP:0011800	Midface retrusion	153241	CEP120	OMIM:616300
HP:0011800	Midface retrusion	5528	PPP2R5D	ORPHA:457279
HP:0011800	Midface retrusion	178	AGL	OMIM:232400
HP:0011800	Midface retrusion	650	BMP2	OMIM:617877
HP:0011800	Midface retrusion	1748	DLX4	OMIM:616788
HP:0011800	Midface retrusion	8815	BANF1	OMIM:614008
HP:0011800	Midface retrusion	22800	RRAS2	ORPHA:648
HP:0011800	Midface retrusion	867	CBL	ORPHA:648
HP:0011800	Midface retrusion	6016	RIT1	ORPHA:648
HP:0011800	Midface retrusion	6237	RRAS	ORPHA:648
HP:0011800	Midface retrusion	5894	RAF1	ORPHA:648
HP:0011800	Midface retrusion	22808	MRAS	ORPHA:648
HP:0011800	Midface retrusion	3845	KRAS	ORPHA:648
HP:0011800	Midface retrusion	200734	SPRED2	ORPHA:648
HP:0011800	Midface retrusion	4893	NRAS	ORPHA:648
HP:0011800	Midface retrusion	6654	SOS1	ORPHA:648
HP:0011800	Midface retrusion	6655	SOS2	ORPHA:648
HP:0011800	Midface retrusion	5781	PTPN11	ORPHA:648
HP:0011800	Midface retrusion	5922	RASA2	ORPHA:648
HP:0011800	Midface retrusion	6496	SIX3	OMIM:157170
HP:0011800	Midface retrusion	23299	BICD2	OMIM:618291
HP:0011800	Midface retrusion	11011	TLK2	OMIM:618050
HP:0011800	Midface retrusion	9130	FAM50A	OMIM:300261
HP:0011800	Midface retrusion	1513	CTSK	ORPHA:763
HP:0011800	Midface retrusion	9469	CHST3	OMIM:245600
HP:0011800	Midface retrusion	26229	B3GAT3	OMIM:245600
HP:0011800	Midface retrusion	4204	MECP2	OMIM:300260
HP:0011800	Midface retrusion	90121	TSR2	OMIM:300946
HP:0011800	Midface retrusion	57647	DHX37	OMIM:618731
HP:0011800	Midface retrusion	5566	PRKACA	OMIM:619142
HP:0011800	Midface retrusion	7043	TGFB3	OMIM:615582
HP:0011800	Midface retrusion	2036	EPB41L1	OMIM:614257
HP:0011800	Midface retrusion	10844	TUBGCP2	OMIM:618737
HP:0011800	Midface retrusion	406932	MIR140	OMIM:618618
HP:0011800	Midface retrusion	25871	NEPRO	OMIM:618853
HP:0011800	Midface retrusion	84168	ANTXR1	ORPHA:2067
HP:0011800	Midface retrusion	871	SERPINH1	OMIM:613848
HP:0011800	Midface retrusion	246329	STAC3	OMIM:255995
HP:0011800	Midface retrusion	121340	SP7	OMIM:613849
HP:0011801	Enlargement of parotid gland	56244	BTNL2	ORPHA:797
HP:0011801	Enlargement of parotid gland	3123	HLA-DRB1	ORPHA:797
HP:0011801	Enlargement of parotid gland	488	ATP2A2	OMIM:124200
HP:0011802	Hamartoma of tongue	79659	DYNC2H1	OMIM:613091
HP:0011802	Hamartoma of tongue	4123	MAN2C1	OMIM:619775
HP:0011802	Hamartoma of tongue	65250	CPLANE1	OMIM:277170
HP:0011802	Hamartoma of tongue	65250	CPLANE1	ORPHA:2754
HP:0011802	Hamartoma of tongue	153241	CEP120	OMIM:616300
HP:0011802	Hamartoma of tongue	84314	TMEM107	OMIM:617563
HP:0011802	Hamartoma of tongue	4750	NEK1	OMIM:263520
HP:0011802	Hamartoma of tongue	4750	NEK1	ORPHA:2751
HP:0011802	Hamartoma of tongue	26005	C2CD3	ORPHA:434179
HP:0011802	Hamartoma of tongue	26005	C2CD3	OMIM:615948
HP:0011802	Hamartoma of tongue	9786	KIAA0586	OMIM:616546
HP:0011802	Hamartoma of tongue	83479	DDX59	OMIM:174300
HP:0011802	Hamartoma of tongue	27152	INTU	OMIM:617925
HP:0011802	Hamartoma of tongue	8481	OFD1	OMIM:311200
HP:0011802	Hamartoma of tongue	8481	OFD1	ORPHA:2750
HP:0011802	Hamartoma of tongue	8481	OFD1	ORPHA:2754
HP:0011802	Hamartoma of tongue	1906	EDN1	ORPHA:137888
HP:0011802	Hamartoma of tongue	5332	PLCB4	ORPHA:137888
HP:0011802	Hamartoma of tongue	2773	GNAI3	ORPHA:137888
HP:0011802	Hamartoma of tongue	51057	WDPCP	OMIM:217085
HP:0011802	Hamartoma of tongue	51057	WDPCP	ORPHA:1338
HP:0011802	Hamartoma of tongue	79583	TMEM231	ORPHA:2752
HP:0011802	Hamartoma of tongue	26123	TCTN3	OMIM:258860
HP:0011802	Hamartoma of tongue	26123	TCTN3	ORPHA:2754
HP:0011802	Hamartoma of tongue	10210	TOPORS	ORPHA:2754
HP:0011802	Hamartoma of tongue	9851	KIAA0753	ORPHA:2754
HP:0011802	Hamartoma of tongue	5147	PDE6D	ORPHA:2754
HP:0011802	Hamartoma of tongue	51259	TMEM216	ORPHA:2754
HP:0011802	Hamartoma of tongue	317662	FAM149B1	ORPHA:2754
HP:0011802	Hamartoma of tongue	374654	KIF7	ORPHA:2754
HP:0011803	Bifid nose	5727	PTCH1	OMIM:610828
HP:0011803	Bifid nose	257	ALX3	OMIM:136760
HP:0011803	Bifid nose	7030	TFE3	OMIM:301066
HP:0011803	Bifid nose	9496	TBX4	ORPHA:261279
HP:0011803	Bifid nose	60529	ALX4	ORPHA:228390
HP:0011803	Bifid nose	8092	ALX1	ORPHA:306542
HP:0011803	Bifid nose	81788	NUAK2	OMIM:619452
HP:0011803	Bifid nose	4763	NF1	ORPHA:139474
HP:0011803	Bifid nose	158326	FREM1	ORPHA:217266
HP:0011803	Bifid nose	158326	FREM1	OMIM:608980
HP:0011803	Bifid nose	57688	ZSWIM6	ORPHA:1827
HP:0011803	Bifid nose	57688	ZSWIM6	OMIM:603671
HP:0011803	Bifid nose	26012	NSMF	OMIM:614838
HP:0011803	Bifid nose	219844	HYLS1	OMIM:236680
HP:0011804	Abnormal muscle physiology	55791	LRIF1	OMIM:619477
HP:0011804	Abnormal muscle physiology	343641	TGM6	OMIM:613908
HP:0011804	Abnormal muscle physiology	343641	TGM6	ORPHA:276193
HP:0011804	Abnormal muscle physiology	1139	CHRNA7	ORPHA:199318
HP:0011804	Abnormal muscle physiology	1139	CHRNA7	OMIM:612001
HP:0011804	Abnormal muscle physiology	55209	SETD5	ORPHA:404440
HP:0011804	Abnormal muscle physiology	283489	CHAMP1	OMIM:616579
HP:0011804	Abnormal muscle physiology	27245	AHDC1	ORPHA:412069
HP:0011804	Abnormal muscle physiology	27245	AHDC1	OMIM:615829
HP:0011804	Abnormal muscle physiology	54806	AHI1	ORPHA:220493
HP:0011804	Abnormal muscle physiology	54806	AHI1	ORPHA:475
HP:0011804	Abnormal muscle physiology	54806	AHI1	OMIM:608629
HP:0011804	Abnormal muscle physiology	153241	CEP120	ORPHA:220493
HP:0011804	Abnormal muscle physiology	153241	CEP120	OMIM:617761
HP:0011804	Abnormal muscle physiology	153241	CEP120	ORPHA:475
HP:0011804	Abnormal muscle physiology	79693	YRDC	OMIM:619609
HP:0011804	Abnormal muscle physiology	7252	TSHB	ORPHA:90674
HP:0011804	Abnormal muscle physiology	7252	TSHB	OMIM:275100
HP:0011804	Abnormal muscle physiology	8029	CUBN	ORPHA:35858
HP:0011804	Abnormal muscle physiology	81693	AMN	ORPHA:35858
HP:0011804	Abnormal muscle physiology	54453	RIN2	OMIM:613075
HP:0011804	Abnormal muscle physiology	2261	FGFR3	ORPHA:1860
HP:0011804	Abnormal muscle physiology	2261	FGFR3	ORPHA:93274
HP:0011804	Abnormal muscle physiology	2261	FGFR3	OMIM:187600
HP:0011804	Abnormal muscle physiology	3340	NDST1	OMIM:616116
HP:0011804	Abnormal muscle physiology	6602	SMARCD1	OMIM:618779
HP:0011804	Abnormal muscle physiology	8493	PPM1D	OMIM:617450
HP:0011804	Abnormal muscle physiology	5593	PRKG2	OMIM:619638
HP:0011804	Abnormal muscle physiology	5593	PRKG2	OMIM:619636
HP:0011804	Abnormal muscle physiology	9354	UBE4A	OMIM:619639
HP:0011804	Abnormal muscle physiology	5604	MAP2K1	OMIM:615279
HP:0011804	Abnormal muscle physiology	5604	MAP2K1	ORPHA:1340
HP:0011804	Abnormal muscle physiology	2203	FBP1	ORPHA:348
HP:0011804	Abnormal muscle physiology	2203	FBP1	OMIM:229700
HP:0011804	Abnormal muscle physiology	5605	MAP2K2	OMIM:615280
HP:0011804	Abnormal muscle physiology	5605	MAP2K2	ORPHA:1340
HP:0011804	Abnormal muscle physiology	54828	BCAS3	OMIM:619641
HP:0011804	Abnormal muscle physiology	113179	ADAT3	OMIM:615286
HP:0011804	Abnormal muscle physiology	4208	MEF2C	ORPHA:228384
HP:0011804	Abnormal muscle physiology	4208	MEF2C	OMIM:613443
HP:0011804	Abnormal muscle physiology	775	CACNA1C	OMIM:601005
HP:0011804	Abnormal muscle physiology	775	CACNA1C	OMIM:620029
HP:0011804	Abnormal muscle physiology	2239	GPC4	ORPHA:373
HP:0011804	Abnormal muscle physiology	2239	GPC4	OMIM:312870
HP:0011804	Abnormal muscle physiology	2719	GPC3	ORPHA:373
HP:0011804	Abnormal muscle physiology	2719	GPC3	OMIM:312870
HP:0011804	Abnormal muscle physiology	197258	FCSK	OMIM:618324
HP:0011804	Abnormal muscle physiology	23499	MACF1	OMIM:618325
HP:0011804	Abnormal muscle physiology	2744	GLS	OMIM:618328
HP:0011804	Abnormal muscle physiology	5836	PYGL	ORPHA:369
HP:0011804	Abnormal muscle physiology	1523	CUX1	OMIM:618330
HP:0011804	Abnormal muscle physiology	4921	DDR2	OMIM:271665
HP:0011804	Abnormal muscle physiology	8925	HERC1	OMIM:617011
HP:0011804	Abnormal muscle physiology	8925	HERC1	ORPHA:457359
HP:0011804	Abnormal muscle physiology	5515	PPP2CA	OMIM:618354
HP:0011804	Abnormal muscle physiology	51114	ZDHHC9	ORPHA:776
HP:0011804	Abnormal muscle physiology	65109	UPF3B	ORPHA:776
HP:0011804	Abnormal muscle physiology	65109	UPF3B	OMIM:300676
HP:0011804	Abnormal muscle physiology	3651	PDX1	ORPHA:99885
HP:0011804	Abnormal muscle physiology	3630	INS	ORPHA:99885
HP:0011804	Abnormal muscle physiology	346171	ZFP57	ORPHA:99886
HP:0011804	Abnormal muscle physiology	57061	HYMAI	ORPHA:99886
HP:0011804	Abnormal muscle physiology	5325	PLAGL1	ORPHA:99886
HP:0011804	Abnormal muscle physiology	79709	COLGALT1	OMIM:618360
HP:0011804	Abnormal muscle physiology	347733	TUBB2B	ORPHA:467166
HP:0011804	Abnormal muscle physiology	347733	TUBB2B	ORPHA:1766
HP:0011804	Abnormal muscle physiology	22930	RAB3GAP1	OMIM:600118
HP:0011804	Abnormal muscle physiology	22930	RAB3GAP1	ORPHA:2510
HP:0011804	Abnormal muscle physiology	51434	ANAPC7	OMIM:619699
HP:0011804	Abnormal muscle physiology	6601	SMARCC2	OMIM:618362
HP:0011804	Abnormal muscle physiology	3054	HCFC1	OMIM:309541
HP:0011804	Abnormal muscle physiology	51608	GET4	OMIM:620200
HP:0011804	Abnormal muscle physiology	7703	PCGF2	OMIM:618371
HP:0011804	Abnormal muscle physiology	7086	TKT	OMIM:617044
HP:0011804	Abnormal muscle physiology	7086	TKT	ORPHA:488618
HP:0011804	Abnormal muscle physiology	8883	NAE1	OMIM:620210
HP:0011804	Abnormal muscle physiology	50801	KCNK4	OMIM:618381
HP:0011804	Abnormal muscle physiology	84265	POLR3GL	OMIM:619234
HP:0011804	Abnormal muscle physiology	27107	ZBTB11	OMIM:618383
HP:0011804	Abnormal muscle physiology	80036	TRPM3	OMIM:620224
HP:0011804	Abnormal muscle physiology	1457	CSNK2A1	OMIM:617062
HP:0011804	Abnormal muscle physiology	7204	TRIO	OMIM:617061
HP:0011804	Abnormal muscle physiology	203068	TUBB	OMIM:156610
HP:0011804	Abnormal muscle physiology	23112	TNRC6B	OMIM:619243
HP:0011804	Abnormal muscle physiology	91875	TTC5	OMIM:619244
HP:0011804	Abnormal muscle physiology	10551	AGR2	OMIM:620233
HP:0011804	Abnormal muscle physiology	5824	PEX19	ORPHA:772
HP:0011804	Abnormal muscle physiology	5824	PEX19	ORPHA:44
HP:0011804	Abnormal muscle physiology	5824	PEX19	OMIM:614886
HP:0011804	Abnormal muscle physiology	51594	NBAS	OMIM:614800
HP:0011804	Abnormal muscle physiology	81615	TMEM163	OMIM:620243
HP:0011804	Abnormal muscle physiology	2801	GOLGA2	OMIM:620240
HP:0011804	Abnormal muscle physiology	64802	NMNAT1	OMIM:619260
HP:0011804	Abnormal muscle physiology	64802	NMNAT1	ORPHA:65
HP:0011804	Abnormal muscle physiology	2294	FOXF1	OMIM:265380
HP:0011804	Abnormal muscle physiology	26960	NBEA	OMIM:619157
HP:0011804	Abnormal muscle physiology	26128	KIFBP	OMIM:609460
HP:0011804	Abnormal muscle physiology	26128	KIFBP	ORPHA:66629
HP:0011804	Abnormal muscle physiology	25821	MTO1	OMIM:614702
HP:0011804	Abnormal muscle physiology	9640	ZNF592	ORPHA:83472
HP:0011804	Abnormal muscle physiology	224	ALDH3A2	ORPHA:816
HP:0011804	Abnormal muscle physiology	2314	FLII	ORPHA:819
HP:0011804	Abnormal muscle physiology	10522	DEAF1	ORPHA:819
HP:0011804	Abnormal muscle physiology	10522	DEAF1	OMIM:615828
HP:0011804	Abnormal muscle physiology	10522	DEAF1	OMIM:617171
HP:0011804	Abnormal muscle physiology	150468	CKAP2L	ORPHA:3255
HP:0011804	Abnormal muscle physiology	429	ASCL1	ORPHA:99803
HP:0011804	Abnormal muscle physiology	8929	PHOX2B	ORPHA:99803
HP:0011804	Abnormal muscle physiology	8929	PHOX2B	ORPHA:661
HP:0011804	Abnormal muscle physiology	26153	KIF26A	OMIM:620156
HP:0011804	Abnormal muscle physiology	5080	PAX6	ORPHA:1065
HP:0011804	Abnormal muscle physiology	54675	CRLS1	OMIM:620167
HP:0011804	Abnormal muscle physiology	222663	SCUBE3	OMIM:619184
HP:0011804	Abnormal muscle physiology	9184	BUB3	ORPHA:1052
HP:0011804	Abnormal muscle physiology	699	BUB1	ORPHA:1052
HP:0011804	Abnormal muscle physiology	9702	CEP57	ORPHA:1052
HP:0011804	Abnormal muscle physiology	9702	CEP57	OMIM:614114
HP:0011804	Abnormal muscle physiology	9319	TRIP13	ORPHA:1052
HP:0011804	Abnormal muscle physiology	55148	UBR7	OMIM:619189
HP:0011804	Abnormal muscle physiology	1591	CYP24A1	OMIM:143880
HP:0011804	Abnormal muscle physiology	25942	SIN3A	OMIM:613406
HP:0011804	Abnormal muscle physiology	25942	SIN3A	ORPHA:94065
HP:0011804	Abnormal muscle physiology	79053	ALG8	OMIM:608104
HP:0011804	Abnormal muscle physiology	79053	ALG8	ORPHA:79325
HP:0011804	Abnormal muscle physiology	3769	KCNJ13	ORPHA:65
HP:0011804	Abnormal muscle physiology	343035	RD3	ORPHA:65
HP:0011804	Abnormal muscle physiology	145226	RDH12	ORPHA:65
HP:0011804	Abnormal muscle physiology	1406	CRX	ORPHA:65
HP:0011804	Abnormal muscle physiology	57096	RPGRIP1	ORPHA:65
HP:0011804	Abnormal muscle physiology	10383	TUBB4B	ORPHA:65
HP:0011804	Abnormal muscle physiology	85015	USP45	ORPHA:65
HP:0011804	Abnormal muscle physiology	6121	RPE65	ORPHA:65
HP:0011804	Abnormal muscle physiology	23418	CRB1	ORPHA:65
HP:0011804	Abnormal muscle physiology	5130	PCYT1A	ORPHA:65
HP:0011804	Abnormal muscle physiology	9657	IQCB1	ORPHA:65
HP:0011804	Abnormal muscle physiology	392255	GDF6	ORPHA:65
HP:0011804	Abnormal muscle physiology	23746	AIPL1	ORPHA:65
HP:0011804	Abnormal muscle physiology	3000	GUCY2D	ORPHA:65
HP:0011804	Abnormal muscle physiology	9227	LRAT	ORPHA:65
HP:0011804	Abnormal muscle physiology	55812	SPATA7	ORPHA:65
HP:0011804	Abnormal muscle physiology	7287	TULP1	ORPHA:65
HP:0011804	Abnormal muscle physiology	167691	LCA5	ORPHA:65
HP:0011804	Abnormal muscle physiology	3614	IMPDH1	ORPHA:65
HP:0011804	Abnormal muscle physiology	7025	NR2F1	ORPHA:401777
HP:0011804	Abnormal muscle physiology	7025	NR2F1	OMIM:615722
HP:0011804	Abnormal muscle physiology	64327	LMBR1	ORPHA:2378
HP:0011804	Abnormal muscle physiology	84720	PIGO	OMIM:614749
HP:0011804	Abnormal muscle physiology	3675	ITGA3	OMIM:614748
HP:0011804	Abnormal muscle physiology	5649	RELN	OMIM:257320
HP:0011804	Abnormal muscle physiology	79759	ZNF668	OMIM:620194
HP:0011804	Abnormal muscle physiology	171023	ASXL1	OMIM:605039
HP:0011804	Abnormal muscle physiology	22907	DHX30	OMIM:617804
HP:0011804	Abnormal muscle physiology	57724	EPG5	ORPHA:1493
HP:0011804	Abnormal muscle physiology	57724	EPG5	OMIM:242840
HP:0011804	Abnormal muscle physiology	9230	RAB11B	OMIM:617807
HP:0011804	Abnormal muscle physiology	9759	HDAC4	ORPHA:1001
HP:0011804	Abnormal muscle physiology	9759	HDAC4	OMIM:619797
HP:0011804	Abnormal muscle physiology	11133	KPTN	OMIM:615637
HP:0011804	Abnormal muscle physiology	11133	KPTN	ORPHA:397612
HP:0011804	Abnormal muscle physiology	27034	ACAD8	OMIM:611283
HP:0011804	Abnormal muscle physiology	27034	ACAD8	ORPHA:79159
HP:0011804	Abnormal muscle physiology	54931	TRMT10C	OMIM:616974
HP:0011804	Abnormal muscle physiology	8085	KMT2D	ORPHA:2322
HP:0011804	Abnormal muscle physiology	8085	KMT2D	OMIM:147920
HP:0011804	Abnormal muscle physiology	4358	MPV17	OMIM:256810
HP:0011804	Abnormal muscle physiology	79583	TMEM231	ORPHA:2318
HP:0011804	Abnormal muscle physiology	51524	TMEM138	ORPHA:2318
HP:0011804	Abnormal muscle physiology	23090	ZNF423	ORPHA:2318
HP:0011804	Abnormal muscle physiology	57545	CC2D2A	ORPHA:2318
HP:0011804	Abnormal muscle physiology	57545	CC2D2A	ORPHA:1454
HP:0011804	Abnormal muscle physiology	4854	NOTCH3	ORPHA:2789
HP:0011804	Abnormal muscle physiology	4854	NOTCH3	OMIM:130720
HP:0011804	Abnormal muscle physiology	55180	LINS1	OMIM:614340
HP:0011804	Abnormal muscle physiology	85440	DOCK7	ORPHA:411986
HP:0011804	Abnormal muscle physiology	85440	DOCK7	OMIM:615859
HP:0011804	Abnormal muscle physiology	10577	NPC2	OMIM:607625
HP:0011804	Abnormal muscle physiology	650	BMP2	OMIM:617877
HP:0011804	Abnormal muscle physiology	650	BMP2	ORPHA:261295
HP:0011804	Abnormal muscle physiology	8777	MPDZ	OMIM:615219
HP:0011804	Abnormal muscle physiology	5449	POU1F1	OMIM:613038
HP:0011804	Abnormal muscle physiology	5449	POU1F1	ORPHA:226307
HP:0011804	Abnormal muscle physiology	2182	ACSL4	OMIM:300387
HP:0011804	Abnormal muscle physiology	2182	ACSL4	ORPHA:86818
HP:0011804	Abnormal muscle physiology	7528	YY1	ORPHA:506358
HP:0011804	Abnormal muscle physiology	7528	YY1	OMIM:617557
HP:0011804	Abnormal muscle physiology	8367	H4C5	OMIM:619950
HP:0011804	Abnormal muscle physiology	8294	H4C9	OMIM:619951
HP:0011804	Abnormal muscle physiology	9853	RUSC2	OMIM:617773
HP:0011804	Abnormal muscle physiology	343450	KCNT2	OMIM:617771
HP:0011804	Abnormal muscle physiology	81857	MED25	OMIM:616449
HP:0011804	Abnormal muscle physiology	81857	MED25	ORPHA:464738
HP:0011804	Abnormal muscle physiology	4047	LSS	ORPHA:2850
HP:0011804	Abnormal muscle physiology	197	AHSG	ORPHA:2850
HP:0011804	Abnormal muscle physiology	3694	ITGB6	ORPHA:2850
HP:0011804	Abnormal muscle physiology	2072	ERCC4	ORPHA:90321
HP:0011804	Abnormal muscle physiology	790	CAD	OMIM:616457
HP:0011804	Abnormal muscle physiology	65082	VPS33A	OMIM:617303
HP:0011804	Abnormal muscle physiology	65082	VPS33A	ORPHA:505248
HP:0011804	Abnormal muscle physiology	10730	YME1L1	OMIM:617302
HP:0011804	Abnormal muscle physiology	129563	DIS3L2	ORPHA:2849
HP:0011804	Abnormal muscle physiology	28960	DCPS	OMIM:616459
HP:0011804	Abnormal muscle physiology	4286	MITF	OMIM:617306
HP:0011804	Abnormal muscle physiology	57231	SNX14	ORPHA:397709
HP:0011804	Abnormal muscle physiology	57231	SNX14	OMIM:616354
HP:0011804	Abnormal muscle physiology	55870	ASH1L	OMIM:617796
HP:0011804	Abnormal muscle physiology	91869	RFT1	ORPHA:244310
HP:0011804	Abnormal muscle physiology	91869	RFT1	OMIM:612015
HP:0011804	Abnormal muscle physiology	652	BMP4	OMIM:607932
HP:0011804	Abnormal muscle physiology	7469	NELFA	ORPHA:280
HP:0011804	Abnormal muscle physiology	283987	HID1	OMIM:619983
HP:0011804	Abnormal muscle physiology	1656	DDX6	OMIM:618653
HP:0011804	Abnormal muscle physiology	1501	CTNND2	ORPHA:281
HP:0011804	Abnormal muscle physiology	9037	SEMA5A	ORPHA:281
HP:0011804	Abnormal muscle physiology	497661	C18orf32	OMIM:619985
HP:0011804	Abnormal muscle physiology	57178	ZMIZ1	OMIM:618659
HP:0011804	Abnormal muscle physiology	1621	DBH	ORPHA:230
HP:0011804	Abnormal muscle physiology	1621	DBH	OMIM:223360
HP:0011804	Abnormal muscle physiology	1182	CLCN3	OMIM:619512
HP:0011804	Abnormal muscle physiology	7862	BRPF1	OMIM:617333
HP:0011804	Abnormal muscle physiology	54914	FOCAD	OMIM:619991
HP:0011804	Abnormal muscle physiology	55699	IARS2	OMIM:616007
HP:0011804	Abnormal muscle physiology	3481	IGF2	OMIM:616489
HP:0011804	Abnormal muscle physiology	26137	ZBTB20	OMIM:259050
HP:0011804	Abnormal muscle physiology	7750	ZMYM2	OMIM:619522
HP:0011804	Abnormal muscle physiology	4849	CNOT3	OMIM:618672
HP:0011804	Abnormal muscle physiology	22	ABCB7	ORPHA:2802
HP:0011804	Abnormal muscle physiology	2542	SLC37A4	OMIM:619525
HP:0011804	Abnormal muscle physiology	79989	IFT56	OMIM:619534
HP:0011804	Abnormal muscle physiology	1107	CHD3	OMIM:618205
HP:0011804	Abnormal muscle physiology	23189	KANK1	OMIM:612900
HP:0011804	Abnormal muscle physiology	1106	CHD2	ORPHA:1942
HP:0011804	Abnormal muscle physiology	6529	SLC6A1	ORPHA:1942
HP:0011804	Abnormal muscle physiology	6529	SLC6A1	OMIM:616421
HP:0011804	Abnormal muscle physiology	6595	SMARCA2	OMIM:601358
HP:0011804	Abnormal muscle physiology	6595	SMARCA2	OMIM:619293
HP:0011804	Abnormal muscle physiology	8621	CDK13	OMIM:617360
HP:0011804	Abnormal muscle physiology	164	AP1G1	OMIM:619548
HP:0011804	Abnormal muscle physiology	164	AP1G1	OMIM:619467
HP:0011804	Abnormal muscle physiology	79705	LRRK1	OMIM:615198
HP:0011804	Abnormal muscle physiology	55628	ZNF407	OMIM:619557
HP:0011804	Abnormal muscle physiology	1908	EDN3	ORPHA:661
HP:0011804	Abnormal muscle physiology	2668	GDNF	ORPHA:661
HP:0011804	Abnormal muscle physiology	627	BDNF	ORPHA:661
HP:0011804	Abnormal muscle physiology	283446	MYO1H	ORPHA:661
HP:0011804	Abnormal muscle physiology	283446	MYO1H	OMIM:619482
HP:0011804	Abnormal muscle physiology	1387	CREBBP	ORPHA:353281
HP:0011804	Abnormal muscle physiology	1387	CREBBP	ORPHA:353277
HP:0011804	Abnormal muscle physiology	1387	CREBBP	OMIM:180849
HP:0011804	Abnormal muscle physiology	1741	DLG3	OMIM:300850
HP:0011804	Abnormal muscle physiology	57551	TAOK1	OMIM:619575
HP:0011804	Abnormal muscle physiology	22796	COG2	OMIM:617395
HP:0011804	Abnormal muscle physiology	29920	PYCR2	ORPHA:481152
HP:0011804	Abnormal muscle physiology	9719	ADAMTSL2	ORPHA:1901
HP:0011804	Abnormal muscle physiology	9509	ADAMTS2	ORPHA:1901
HP:0011804	Abnormal muscle physiology	9496	TBX4	ORPHA:261279
HP:0011804	Abnormal muscle physiology	80173	IFT74	OMIM:619582
HP:0011804	Abnormal muscle physiology	6023	RMRP	OMIM:607095
HP:0011804	Abnormal muscle physiology	6023	RMRP	ORPHA:175
HP:0011804	Abnormal muscle physiology	5250	SLC25A3	OMIM:610773
HP:0011804	Abnormal muscle physiology	5250	SLC25A3	ORPHA:91130
HP:0011804	Abnormal muscle physiology	10771	ZMYND11	OMIM:616083
HP:0011804	Abnormal muscle physiology	57003	CCDC47	OMIM:618268
HP:0011804	Abnormal muscle physiology	10847	SRCAP	OMIM:619595
HP:0011804	Abnormal muscle physiology	1836	SLC26A2	ORPHA:628
HP:0011804	Abnormal muscle physiology	118924	FRA10AC1	OMIM:620113
HP:0011804	Abnormal muscle physiology	8911	CACNA1I	OMIM:620114
HP:0011804	Abnormal muscle physiology	11014	KDELR2	OMIM:619131
HP:0011804	Abnormal muscle physiology	4781	NFIB	OMIM:618286
HP:0011804	Abnormal muscle physiology	9487	PIGL	OMIM:280000
HP:0011804	Abnormal muscle physiology	1795	DOCK3	OMIM:618292
HP:0011804	Abnormal muscle physiology	27161	AGO2	OMIM:619149
HP:0011804	Abnormal muscle physiology	8665	EIF3F	OMIM:618295
HP:0011804	Abnormal muscle physiology	54938	SARS2	OMIM:613845
HP:0011804	Abnormal muscle physiology	26275	HIBCH	OMIM:250620
HP:0011804	Abnormal muscle physiology	26275	HIBCH	ORPHA:88639
HP:0011804	Abnormal muscle physiology	9871	SEC24D	ORPHA:2050
HP:0011804	Abnormal muscle physiology	9871	SEC24D	OMIM:616294
HP:0011804	Abnormal muscle physiology	5034	P4HB	ORPHA:2050
HP:0011804	Abnormal muscle physiology	7109	TRAPPC10	OMIM:620027
HP:0011804	Abnormal muscle physiology	55325	UFSP2	OMIM:620028
HP:0011804	Abnormal muscle physiology	4774	NFIA	OMIM:613735
HP:0011804	Abnormal muscle physiology	4774	NFIA	ORPHA:401986
HP:0011804	Abnormal muscle physiology	501	ALDH7A1	OMIM:266100
HP:0011804	Abnormal muscle physiology	5689	PSMB1	OMIM:620038
HP:0011804	Abnormal muscle physiology	63908	NAPB	OMIM:620033
HP:0011804	Abnormal muscle physiology	8289	ARID1A	OMIM:614607
HP:0011804	Abnormal muscle physiology	55107	ANO1	OMIM:620045
HP:0011804	Abnormal muscle physiology	6597	SMARCA4	OMIM:614609
HP:0011804	Abnormal muscle physiology	9377	COX5A	OMIM:619064
HP:0011804	Abnormal muscle physiology	54476	RNF216	ORPHA:1173
HP:0011804	Abnormal muscle physiology	4591	TRIM37	OMIM:253250
HP:0011804	Abnormal muscle physiology	124512	METTL23	OMIM:615942
HP:0011804	Abnormal muscle physiology	10382	TUBB4A	OMIM:612438
HP:0011804	Abnormal muscle physiology	1174	AP1S1	OMIM:609313
HP:0011804	Abnormal muscle physiology	112755	STX1B	ORPHA:36387
HP:0011804	Abnormal muscle physiology	2563	GABRD	ORPHA:36387
HP:0011804	Abnormal muscle physiology	2563	GABRD	ORPHA:1606
HP:0011804	Abnormal muscle physiology	84059	ADGRV1	ORPHA:36387
HP:0011804	Abnormal muscle physiology	5091	PC	OMIM:266150
HP:0011804	Abnormal muscle physiology	22859	ADGRL1	OMIM:620065
HP:0011804	Abnormal muscle physiology	83475	DOHH	OMIM:620066
HP:0011804	Abnormal muscle physiology	55027	HEATR3	OMIM:620072
HP:0011804	Abnormal muscle physiology	51611	DPH5	OMIM:620070
HP:0011804	Abnormal muscle physiology	10430	TMEM147	OMIM:620075
HP:0011804	Abnormal muscle physiology	3187	HNRNPH1	OMIM:620083
HP:0011804	Abnormal muscle physiology	5915	RARB	ORPHA:2470
HP:0011804	Abnormal muscle physiology	84978	FRMD5	OMIM:620094
HP:0011804	Abnormal muscle physiology	2702	GJA5	OMIM:612474
HP:0011804	Abnormal muscle physiology	2703	GJA8	OMIM:612474
HP:0011804	Abnormal muscle physiology	10664	CTCF	OMIM:615502
HP:0011804	Abnormal muscle physiology	10664	CTCF	ORPHA:363611
HP:0011804	Abnormal muscle physiology	3720	JARID2	OMIM:620098
HP:0011804	Abnormal muscle physiology	51621	KLF13	OMIM:612001
HP:0011804	Abnormal muscle physiology	11253	MAN1B1	OMIM:614202
HP:0011804	Abnormal muscle physiology	5925	RB1	ORPHA:1587
HP:0011804	Abnormal muscle physiology	79633	FAT4	OMIM:615546
HP:0011804	Abnormal muscle physiology	490	ATP2B1	OMIM:619910
HP:0011804	Abnormal muscle physiology	6925	TCF4	ORPHA:2896
HP:0011804	Abnormal muscle physiology	6925	TCF4	OMIM:610954
HP:0011804	Abnormal muscle physiology	6519	SLC3A1	ORPHA:163690
HP:0011804	Abnormal muscle physiology	6519	SLC3A1	ORPHA:163693
HP:0011804	Abnormal muscle physiology	6591	SNAI2	ORPHA:2884
HP:0011804	Abnormal muscle physiology	3815	KIT	ORPHA:2884
HP:0011804	Abnormal muscle physiology	5495	PPM1B	ORPHA:163693
HP:0011804	Abnormal muscle physiology	79823	CAMKMT	ORPHA:163693
HP:0011804	Abnormal muscle physiology	29929	ALG6	OMIM:603147
HP:0011804	Abnormal muscle physiology	29929	ALG6	ORPHA:79320
HP:0011804	Abnormal muscle physiology	9320	TRIP12	OMIM:617752
HP:0011804	Abnormal muscle physiology	5879	RAC1	OMIM:617751
HP:0011804	Abnormal muscle physiology	9757	KMT2B	OMIM:619934
HP:0011804	Abnormal muscle physiology	8803	SUCLA2	OMIM:612073
HP:0011804	Abnormal muscle physiology	10464	PIBF1	OMIM:617767
HP:0011804	Abnormal muscle physiology	10464	PIBF1	ORPHA:475
HP:0011804	Abnormal muscle physiology	2036	EPB41L1	OMIM:614257
HP:0011804	Abnormal muscle physiology	26235	FBXL4	OMIM:615471
HP:0011804	Abnormal muscle physiology	23135	KDM6B	OMIM:618505
HP:0011804	Abnormal muscle physiology	55823	VPS11	ORPHA:466934
HP:0011804	Abnormal muscle physiology	55823	VPS11	OMIM:616683
HP:0011804	Abnormal muscle physiology	4897	NRCAM	OMIM:619833
HP:0011804	Abnormal muscle physiology	1373	CPS1	ORPHA:147
HP:0011804	Abnormal muscle physiology	9578	CDC42BPB	OMIM:619841
HP:0011804	Abnormal muscle physiology	65993	MRPS34	OMIM:617664
HP:0011804	Abnormal muscle physiology	6487	ST3GAL3	OMIM:615006
HP:0011804	Abnormal muscle physiology	9723	SEMA3E	ORPHA:138
HP:0011804	Abnormal muscle physiology	23327	NEDD4L	OMIM:617201
HP:0011804	Abnormal muscle physiology	55065	SLC52A1	OMIM:615026
HP:0011804	Abnormal muscle physiology	5518	PPP2R1A	OMIM:616362
HP:0011804	Abnormal muscle physiology	5518	PPP2R1A	ORPHA:457284
HP:0011804	Abnormal muscle physiology	26038	CHD5	OMIM:619873
HP:0011804	Abnormal muscle physiology	57680	CHD8	OMIM:615032
HP:0011804	Abnormal muscle physiology	51692	CPSF3	OMIM:619876
HP:0011804	Abnormal muscle physiology	5590	PRKCZ	ORPHA:1606
HP:0011804	Abnormal muscle physiology	23013	SPEN	ORPHA:1606
HP:0011804	Abnormal muscle physiology	23013	SPEN	OMIM:619312
HP:0011804	Abnormal muscle physiology	8510	MMP23B	ORPHA:1606
HP:0011804	Abnormal muscle physiology	7798	LUZP1	ORPHA:1606
HP:0011804	Abnormal muscle physiology	10630	PDPN	ORPHA:1606
HP:0011804	Abnormal muscle physiology	10277	UBE4B	ORPHA:1606
HP:0011804	Abnormal muscle physiology	8514	KCNAB2	ORPHA:1606
HP:0011804	Abnormal muscle physiology	54897	CASZ1	ORPHA:1606
HP:0011804	Abnormal muscle physiology	2990	GUSB	ORPHA:584
HP:0011804	Abnormal muscle physiology	56098	PCDHGC4	OMIM:619880
HP:0011804	Abnormal muscle physiology	27068	PPA2	OMIM:617222
HP:0011804	Abnormal muscle physiology	38	ACAT1	ORPHA:134
HP:0011804	Abnormal muscle physiology	205327	C2orf69	OMIM:619423
HP:0011804	Abnormal muscle physiology	26173	INTS1	OMIM:618571
HP:0011804	Abnormal muscle physiology	1642	DDB1	OMIM:619426
HP:0011804	Abnormal muscle physiology	56896	DPYSL5	OMIM:619435
HP:0011804	Abnormal muscle physiology	6418	SET	OMIM:618106
HP:0011804	Abnormal muscle physiology	128869	PIGU	OMIM:618590
HP:0011804	Abnormal muscle physiology	4041	LRP5	OMIM:259770
HP:0011804	Abnormal muscle physiology	5980	REV3L	ORPHA:570
HP:0011804	Abnormal muscle physiology	23129	PLXND1	ORPHA:570
HP:0011804	Abnormal muscle physiology	3039	HBA1	ORPHA:98791
HP:0011804	Abnormal muscle physiology	3040	HBA2	ORPHA:98791
HP:0011804	Abnormal muscle physiology	8888	MCM3AP	OMIM:618124
HP:0011804	Abnormal muscle physiology	537	ATP6AP1	OMIM:300972
HP:0011804	Abnormal muscle physiology	3376	IARS1	ORPHA:541423
HP:0011804	Abnormal muscle physiology	3376	IARS1	OMIM:617093
HP:0011804	Abnormal muscle physiology	6045	RNF2	OMIM:619460
HP:0011804	Abnormal muscle physiology	10526	IPO8	OMIM:619472
HP:0011804	Abnormal muscle physiology	374879	ZNF699	OMIM:619488
HP:0011804	Abnormal muscle physiology	28952	CCDC22	OMIM:300963
HP:0011804	Abnormal muscle physiology	28952	CCDC22	ORPHA:7
HP:0011804	Abnormal muscle physiology	80267	EDEM3	OMIM:619493
HP:0011804	Abnormal muscle physiology	92344	GORAB	ORPHA:2078
HP:0011804	Abnormal muscle physiology	5831	PYCR1	ORPHA:2078
HP:0011804	Abnormal muscle physiology	8910	SGCE	OMIM:159900
HP:0011804	Abnormal muscle physiology	55294	FBXW7	OMIM:620012
HP:0011804	Abnormal muscle physiology	23241	PACS2	OMIM:618067
HP:0011804	Abnormal muscle physiology	161742	SPRED1	OMIM:611431
HP:0011804	Abnormal muscle physiology	161742	SPRED1	ORPHA:137605
HP:0011804	Abnormal muscle physiology	118429	ANTXR2	ORPHA:2176
HP:0011804	Abnormal muscle physiology	10466	COG5	OMIM:613612
HP:0011804	Abnormal muscle physiology	80232	WDR26	ORPHA:513456
HP:0011804	Abnormal muscle physiology	80232	WDR26	OMIM:617616
HP:0011804	Abnormal muscle physiology	6662	SOX9	OMIM:114290
HP:0011804	Abnormal muscle physiology	64207	IRF2BPL	OMIM:618088
HP:0011804	Abnormal muscle physiology	23325	WASHC4	OMIM:615817
HP:0011804	Abnormal muscle physiology	80856	LNPK	OMIM:618090
HP:0011804	Abnormal muscle physiology	6885	MAP3K7	OMIM:157800
HP:0011804	Abnormal muscle physiology	1954	MEGF8	OMIM:614976
HP:0011804	Abnormal muscle physiology	165	AEBP1	ORPHA:536532
HP:0011804	Abnormal muscle physiology	5063	PAK3	OMIM:300558
HP:0011804	Abnormal muscle physiology	5626	PROP1	ORPHA:226307
HP:0011804	Abnormal muscle physiology	89884	LHX4	ORPHA:226307
HP:0011804	Abnormal muscle physiology	8022	LHX3	ORPHA:226307
HP:0011804	Abnormal muscle physiology	79753	SNIP1	OMIM:614501
HP:0011804	Abnormal muscle physiology	3418	IDH2	OMIM:613657
HP:0011804	Abnormal muscle physiology	50506	DUOX2	ORPHA:226316
HP:0011804	Abnormal muscle physiology	50506	DUOX2	ORPHA:95716
HP:0011804	Abnormal muscle physiology	1910	EDNRB	OMIM:277580
HP:0011804	Abnormal muscle physiology	57393	CLTRN	ORPHA:2116
HP:0011804	Abnormal muscle physiology	3242	HPD	ORPHA:2118
HP:0011804	Abnormal muscle physiology	6664	SOX11	OMIM:615866
HP:0011804	Abnormal muscle physiology	1788	DNMT3A	OMIM:615879
HP:0011804	Abnormal muscle physiology	55593	OTUD5	OMIM:301056
HP:0011804	Abnormal muscle physiology	79644	SRD5A3	OMIM:612379
HP:0011804	Abnormal muscle physiology	50	ACO2	OMIM:614559
HP:0011804	Abnormal muscle physiology	63035	BCORL1	OMIM:301029
HP:0011804	Abnormal muscle physiology	5422	POLA1	OMIM:301030
HP:0011804	Abnormal muscle physiology	79576	NKAP	OMIM:301039
HP:0011804	Abnormal muscle physiology	83696	TRAPPC9	ORPHA:352530
HP:0011804	Abnormal muscle physiology	56479	KCNQ5	OMIM:617601
HP:0011804	Abnormal muscle physiology	23152	CIC	OMIM:617600
HP:0011804	Abnormal muscle physiology	4329	ALDH6A1	OMIM:614105
HP:0011804	Abnormal muscle physiology	3425	IDUA	ORPHA:93473
HP:0011804	Abnormal muscle physiology	60528	ELAC2	OMIM:615440
HP:0011804	Abnormal muscle physiology	80210	ARMC9	OMIM:617622
HP:0011804	Abnormal muscle physiology	80210	ARMC9	ORPHA:475
HP:0011804	Abnormal muscle physiology	5294	PIK3CG	OMIM:619802
HP:0011804	Abnormal muscle physiology	22931	RAB18	ORPHA:2510
HP:0011804	Abnormal muscle physiology	3265	HRAS	ORPHA:2612
HP:0011804	Abnormal muscle physiology	8425	LTBP4	OMIM:613177
HP:0011804	Abnormal muscle physiology	124997	WDR81	ORPHA:1766
HP:0011804	Abnormal muscle physiology	51761	ATP8A2	ORPHA:1766
HP:0011804	Abnormal muscle physiology	767	CA8	ORPHA:1766
HP:0011804	Abnormal muscle physiology	249	ALPL	OMIM:241500
HP:0011804	Abnormal muscle physiology	3020	H3-3A	OMIM:619720
HP:0011804	Abnormal muscle physiology	55790	CSGALNACT1	OMIM:618870
HP:0011804	Abnormal muscle physiology	4056	LTC4S	OMIM:614037
HP:0011804	Abnormal muscle physiology	27102	EIF2AK1	OMIM:618878
HP:0011804	Abnormal muscle physiology	51319	RSRC1	OMIM:618402
HP:0011804	Abnormal muscle physiology	4297	KMT2A	ORPHA:319182
HP:0011804	Abnormal muscle physiology	4297	KMT2A	OMIM:605130
HP:0011804	Abnormal muscle physiology	84314	TMEM107	OMIM:617563
HP:0011804	Abnormal muscle physiology	79600	TCTN1	ORPHA:475
HP:0011804	Abnormal muscle physiology	219844	HYLS1	ORPHA:475
HP:0011804	Abnormal muscle physiology	219854	TMEM218	ORPHA:475
HP:0011804	Abnormal muscle physiology	79867	TCTN2	ORPHA:475
HP:0011804	Abnormal muscle physiology	79867	TCTN2	OMIM:616654
HP:0011804	Abnormal muscle physiology	80776	B9D2	ORPHA:475
HP:0011804	Abnormal muscle physiology	25776	CBY1	ORPHA:475
HP:0011804	Abnormal muscle physiology	27077	B9D1	ORPHA:475
HP:0011804	Abnormal muscle physiology	27077	B9D1	OMIM:617120
HP:0011804	Abnormal muscle physiology	8363	H4C11	OMIM:619759
HP:0011804	Abnormal muscle physiology	7531	YWHAE	ORPHA:217385
HP:0011804	Abnormal muscle physiology	8364	H4C3	OMIM:619758
HP:0011804	Abnormal muscle physiology	8517	IKBKG	ORPHA:464
HP:0011804	Abnormal muscle physiology	6942	TCF20	OMIM:618430
HP:0011804	Abnormal muscle physiology	9993	DGCR2	OMIM:192430
HP:0011804	Abnormal muscle physiology	8220	ESS2	OMIM:192430
HP:0011804	Abnormal muscle physiology	8214	DGCR6	OMIM:192430
HP:0011804	Abnormal muscle physiology	54487	DGCR8	OMIM:192430
HP:0011804	Abnormal muscle physiology	51341	ZBTB7A	OMIM:619769
HP:0011804	Abnormal muscle physiology	9338	TCEAL1	OMIM:301094
HP:0011804	Abnormal muscle physiology	7030	TFE3	OMIM:301066
HP:0011804	Abnormal muscle physiology	23162	MAPK8IP3	OMIM:618443
HP:0011804	Abnormal muscle physiology	4123	MAN2C1	OMIM:619775
HP:0011804	Abnormal muscle physiology	54941	RNF125	OMIM:616260
HP:0011804	Abnormal muscle physiology	23219	FBXO28	OMIM:619777
HP:0011804	Abnormal muscle physiology	8295	TRRAP	OMIM:618454
HP:0011804	Abnormal muscle physiology	51013	EXOSC1	OMIM:619304
HP:0011804	Abnormal muscle physiology	5898	RALA	OMIM:619311
HP:0011804	Abnormal muscle physiology	2623	GATA1	OMIM:190685
HP:0011804	Abnormal muscle physiology	23030	KDM4B	OMIM:619320
HP:0011804	Abnormal muscle physiology	55503	TRPV6	ORPHA:417
HP:0011804	Abnormal muscle physiology	8869	ST3GAL5	OMIM:609056
HP:0011804	Abnormal muscle physiology	1725	DHPS	OMIM:618480
HP:0011804	Abnormal muscle physiology	25929	GEMIN5	OMIM:619333
HP:0011804	Abnormal muscle physiology	2560	GABRB1	OMIM:617153
HP:0011804	Abnormal muscle physiology	23221	RHOBTB2	OMIM:618004
HP:0011804	Abnormal muscle physiology	2530	FUT8	OMIM:618005
HP:0011804	Abnormal muscle physiology	54496	PRMT7	OMIM:617157
HP:0011804	Abnormal muscle physiology	1108	CHD4	OMIM:617159
HP:0011804	Abnormal muscle physiology	9969	MED13	OMIM:618009
HP:0011804	Abnormal muscle physiology	8091	HMGA2	ORPHA:94063
HP:0011804	Abnormal muscle physiology	23592	LEMD3	ORPHA:94063
HP:0011804	Abnormal muscle physiology	1822	ATN1	OMIM:618494
HP:0011804	Abnormal muscle physiology	3930	LBR	OMIM:618019
HP:0011804	Abnormal muscle physiology	5977	DPF2	OMIM:618027
HP:0011804	Abnormal muscle physiology	55210	ATAD3A	OMIM:617183
HP:0011804	Abnormal muscle physiology	55210	ATAD3A	OMIM:618810
HP:0011804	Abnormal muscle physiology	285590	SH3PXD2B	OMIM:249420
HP:0011804	Abnormal muscle physiology	128240	NAXE	OMIM:617186
HP:0011804	Abnormal muscle physiology	539	ATP5PO	OMIM:620359
HP:0011804	Abnormal muscle physiology	1028	CDKN1C	ORPHA:85173
HP:0011804	Abnormal muscle physiology	5426	POLE	ORPHA:85173
HP:0011804	Abnormal muscle physiology	55252	ASXL2	OMIM:617190
HP:0011804	Abnormal muscle physiology	55074	OXR1	OMIM:213000
HP:0011804	Abnormal muscle physiology	129285	PPP1R21	OMIM:619383
HP:0011804	Abnormal muscle physiology	27072	VPS41	OMIM:619389
HP:0011804	Abnormal muscle physiology	9054	NFS1	OMIM:619386
HP:0011804	Abnormal muscle physiology	27183	VPS4A	OMIM:619273
HP:0011804	Abnormal muscle physiology	55777	MBD5	ORPHA:228402
HP:0011804	Abnormal muscle physiology	9442	MED27	OMIM:619286
HP:0011804	Abnormal muscle physiology	51360	MBTPS2	ORPHA:2273
HP:0011804	Abnormal muscle physiology	36	ACADSB	OMIM:610006
HP:0011804	Abnormal muscle physiology	5826	ABCD4	OMIM:614857
HP:0011804	Abnormal muscle physiology	6804	STX1A	ORPHA:904
HP:0011804	Abnormal muscle physiology	7461	CLIP2	ORPHA:904
HP:0011804	Abnormal muscle physiology	84277	DNAJC30	ORPHA:904
HP:0011804	Abnormal muscle physiology	8468	FKBP6	ORPHA:904
HP:0011804	Abnormal muscle physiology	5982	RFC2	ORPHA:904
HP:0011804	Abnormal muscle physiology	2969	GTF2I	ORPHA:904
HP:0011804	Abnormal muscle physiology	3984	LIMK1	ORPHA:904
HP:0011804	Abnormal muscle physiology	9569	GTF2IRD1	ORPHA:904
HP:0011804	Abnormal muscle physiology	155382	VPS37D	ORPHA:904
HP:0011804	Abnormal muscle physiology	155368	METTL27	ORPHA:904
HP:0011804	Abnormal muscle physiology	114049	BUD23	ORPHA:904
HP:0011804	Abnormal muscle physiology	7458	EIF4H	ORPHA:904
HP:0011804	Abnormal muscle physiology	84163	GTF2IRD2	ORPHA:904
HP:0011804	Abnormal muscle physiology	9275	BCL7B	ORPHA:904
HP:0011804	Abnormal muscle physiology	26608	TBL2	ORPHA:904
HP:0011804	Abnormal muscle physiology	653361	NCF1	ORPHA:904
HP:0011804	Abnormal muscle physiology	135886	TMEM270	ORPHA:904
HP:0011804	Abnormal muscle physiology	9031	BAZ1B	ORPHA:904
HP:0011804	Abnormal muscle physiology	93210	PGAP3	OMIM:615716
HP:0011804	Abnormal muscle physiology	471	ATIC	OMIM:608688
HP:0011804	Abnormal muscle physiology	254065	BRWD3	OMIM:300659
HP:0011804	Abnormal muscle physiology	1384	CRAT	OMIM:617917
HP:0011804	Abnormal muscle physiology	85021	REPS1	OMIM:617916
HP:0011804	Abnormal muscle physiology	7545	ZIC1	OMIM:616602
HP:0011804	Abnormal muscle physiology	5859	QARS1	OMIM:615760
HP:0011804	Abnormal muscle physiology	79631	EFL1	OMIM:617941
HP:0011804	Abnormal muscle physiology	30008	EFEMP2	OMIM:614437
HP:0011804	Abnormal muscle physiology	51116	MRPS2	OMIM:617950
HP:0011804	Abnormal muscle physiology	405753	DUOXA2	ORPHA:95716
HP:0011804	Abnormal muscle physiology	6528	SLC5A5	ORPHA:95716
HP:0011804	Abnormal muscle physiology	7038	TG	ORPHA:95716
HP:0011804	Abnormal muscle physiology	7173	TPO	ORPHA:95716
HP:0011804	Abnormal muscle physiology	389434	IYD	ORPHA:95716
HP:0011804	Abnormal muscle physiology	64131	XYLT1	OMIM:615777
HP:0011804	Abnormal muscle physiology	1729	DIAPH1	OMIM:616632
HP:0011804	Abnormal muscle physiology	27010	TPK1	OMIM:614458
HP:0011804	Abnormal muscle physiology	56270	WDR45B	OMIM:617977
HP:0011804	Abnormal muscle physiology	23630	KCNE5	ORPHA:86818
HP:0011804	Abnormal muscle physiology	54870	QRICH1	OMIM:617982
HP:0011804	Abnormal muscle physiology	100506658	OCLN	OMIM:251290
HP:0011804	Abnormal muscle physiology	5718	PSMD12	OMIM:617516
HP:0011804	Abnormal muscle physiology	18	ABAT	OMIM:613163
HP:0011804	Abnormal muscle physiology	79587	CARS2	OMIM:616672
HP:0011804	Abnormal muscle physiology	6873	TAF2	OMIM:615599
HP:0011804	Abnormal muscle physiology	6873	TAF2	ORPHA:397951
HP:0011804	Abnormal muscle physiology	7360	UGP2	OMIM:618744
HP:0011804	Abnormal muscle physiology	10111	RAD50	OMIM:613078
HP:0011804	Abnormal muscle physiology	5833	PCYT2	OMIM:618770
HP:0011804	Abnormal muscle physiology	472	ATM	ORPHA:100
HP:0011804	Abnormal muscle physiology	9533	POLR1C	OMIM:616494
HP:0011804	Abnormal muscle physiology	79991	STN1	OMIM:617341
HP:0011804	Abnormal muscle physiology	9276	COPB2	OMIM:619884
HP:0011804	Abnormal muscle physiology	9276	COPB2	OMIM:617800
HP:0011804	Abnormal muscle physiology	146227	BEAN1	ORPHA:217012
HP:0011804	Abnormal muscle physiology	374969	SVBP	OMIM:618569
HP:0011804	Abnormal muscle physiology	79641	ROGDI	ORPHA:1946
HP:0011804	Abnormal muscle physiology	79641	ROGDI	OMIM:226750
HP:0011804	Abnormal muscle physiology	1203	CLN5	ORPHA:228360
HP:0011804	Abnormal muscle physiology	387119	CEP85L	ORPHA:572013
HP:0011804	Abnormal muscle physiology	92255	LMBRD2	OMIM:619694
HP:0011804	Abnormal muscle physiology	2009	EML1	OMIM:600348
HP:0011804	Abnormal muscle physiology	9758	FRMPD4	OMIM:300983
HP:0011804	Abnormal muscle physiology	8635	RNASET2	OMIM:612951
HP:0011804	Abnormal muscle physiology	378884	NHLRC1	ORPHA:501
HP:0011804	Abnormal muscle physiology	7957	EPM2A	ORPHA:501
HP:0011804	Abnormal muscle physiology	727676	SNORD118	ORPHA:542310
HP:0011804	Abnormal muscle physiology	727676	SNORD118	OMIM:614561
HP:0011804	Abnormal muscle physiology	23236	PLCB1	OMIM:613722
HP:0011804	Abnormal muscle physiology	375	ARF1	OMIM:618185
HP:0011804	Abnormal muscle physiology	83700	JAM3	OMIM:613730
HP:0011804	Abnormal muscle physiology	9915	ARNT2	OMIM:615926
HP:0011804	Abnormal muscle physiology	1351	COX8A	OMIM:619059
HP:0011804	Abnormal muscle physiology	1678	TIMM8A	OMIM:304700
HP:0011804	Abnormal muscle physiology	26090	ABHD12	OMIM:612674
HP:0011804	Abnormal muscle physiology	7507	XPA	ORPHA:910
HP:0011804	Abnormal muscle physiology	7507	XPA	OMIM:278700
HP:0011804	Abnormal muscle physiology	7508	XPC	ORPHA:910
HP:0011804	Abnormal muscle physiology	1643	DDB2	ORPHA:910
HP:0011804	Abnormal muscle physiology	23600	AMACR	OMIM:614307
HP:0011804	Abnormal muscle physiology	2891	GRIA2	OMIM:618917
HP:0011804	Abnormal muscle physiology	2058	EPRS1	OMIM:617951
HP:0011804	Abnormal muscle physiology	84693	MCEE	OMIM:251120
HP:0011804	Abnormal muscle physiology	1641	DCX	OMIM:300067
HP:0011804	Abnormal muscle physiology	81689	ISCA1	OMIM:617613
HP:0011804	Abnormal muscle physiology	7305	TYROBP	ORPHA:2770
HP:0011804	Abnormal muscle physiology	7305	TYROBP	OMIM:221770
HP:0011804	Abnormal muscle physiology	22934	RPIA	OMIM:608611
HP:0011804	Abnormal muscle physiology	23209	MLC1	OMIM:604004
HP:0011804	Abnormal muscle physiology	9439	MED23	OMIM:614249
HP:0011804	Abnormal muscle physiology	80169	CTC1	OMIM:612199
HP:0011804	Abnormal muscle physiology	10844	TUBGCP2	OMIM:618737
HP:0011804	Abnormal muscle physiology	55753	OGDHL	OMIM:619701
HP:0011804	Abnormal muscle physiology	55182	RNF220	OMIM:619688
HP:0011804	Abnormal muscle physiology	5077	PAX3	ORPHA:896
HP:0011804	Abnormal muscle physiology	5077	PAX3	OMIM:148820
HP:0011804	Abnormal muscle physiology	64834	ELOVL1	OMIM:618527
HP:0011804	Abnormal muscle physiology	953	ENTPD1	OMIM:615683
HP:0011804	Abnormal muscle physiology	55656	INTS8	OMIM:618572
HP:0011804	Abnormal muscle physiology	137492	VPS37A	OMIM:614898
HP:0011804	Abnormal muscle physiology	10084	PQBP1	ORPHA:93947
HP:0011804	Abnormal muscle physiology	120	ADD3	OMIM:617008
HP:0011804	Abnormal muscle physiology	11113	CIT	OMIM:617090
HP:0011804	Abnormal muscle physiology	3763	KCNJ6	ORPHA:435628
HP:0011804	Abnormal muscle physiology	3763	KCNJ6	OMIM:614098
HP:0011804	Abnormal muscle physiology	6535	SLC6A8	OMIM:300352
HP:0011804	Abnormal muscle physiology	6535	SLC6A8	ORPHA:52503
HP:0011804	Abnormal muscle physiology	5723	PSPH	OMIM:614023
HP:0011804	Abnormal muscle physiology	5723	PSPH	ORPHA:79350
HP:0011804	Abnormal muscle physiology	55532	SLC30A10	ORPHA:309854
HP:0011804	Abnormal muscle physiology	55627	SMPD4	OMIM:618622
HP:0011804	Abnormal muscle physiology	3008	H1-4	OMIM:617537
HP:0011804	Abnormal muscle physiology	1119	CHKA	OMIM:620023
HP:0011804	Abnormal muscle physiology	8496	PPFIBP1	OMIM:620024
HP:0011804	Abnormal muscle physiology	51	ACOX1	ORPHA:2971
HP:0011804	Abnormal muscle physiology	51	ACOX1	OMIM:264470
HP:0011804	Abnormal muscle physiology	4072	EPCAM	ORPHA:144
HP:0011804	Abnormal muscle physiology	4292	MLH1	ORPHA:144
HP:0011804	Abnormal muscle physiology	5395	PMS2	ORPHA:144
HP:0011804	Abnormal muscle physiology	27030	MLH3	ORPHA:144
HP:0011804	Abnormal muscle physiology	22909	FAN1	ORPHA:144
HP:0011804	Abnormal muscle physiology	7048	TGFBR2	ORPHA:144
HP:0011804	Abnormal muscle physiology	2956	MSH6	ORPHA:144
HP:0011804	Abnormal muscle physiology	5378	PMS1	ORPHA:144
HP:0011804	Abnormal muscle physiology	4436	MSH2	ORPHA:144
HP:0011804	Abnormal muscle physiology	4552	MTRR	OMIM:236270
HP:0011804	Abnormal muscle physiology	6536	SLC6A9	OMIM:617301
HP:0011804	Abnormal muscle physiology	64218	SEMA4A	ORPHA:440437
HP:0011804	Abnormal muscle physiology	6224	RPS20	ORPHA:440437
HP:0011804	Abnormal muscle physiology	1841	DTYMK	OMIM:619847
HP:0011804	Abnormal muscle physiology	166378	AFG2A	OMIM:616577
HP:0011804	Abnormal muscle physiology	80055	PGAP1	OMIM:615802
HP:0011804	Abnormal muscle physiology	5610	EIF2AK2	OMIM:618877
HP:0011804	Abnormal muscle physiology	5610	EIF2AK2	ORPHA:256
HP:0011804	Abnormal muscle physiology	55163	PNPO	ORPHA:79096
HP:0011804	Abnormal muscle physiology	55163	PNPO	OMIM:610090
HP:0011804	Abnormal muscle physiology	271	AMPD2	OMIM:615809
HP:0011804	Abnormal muscle physiology	271	AMPD2	ORPHA:401805
HP:0011804	Abnormal muscle physiology	271	AMPD2	OMIM:615686
HP:0011804	Abnormal muscle physiology	51324	SPG21	OMIM:248900
HP:0011804	Abnormal muscle physiology	284403	WDR62	OMIM:604317
HP:0011804	Abnormal muscle physiology	9289	ADGRG1	OMIM:606854
HP:0011804	Abnormal muscle physiology	2892	GRIA3	OMIM:300699
HP:0011804	Abnormal muscle physiology	9692	PRORP	OMIM:619737
HP:0011804	Abnormal muscle physiology	340024	SLC6A19	OMIM:234500
HP:0011804	Abnormal muscle physiology	2770	GNAI1	OMIM:619854
HP:0011804	Abnormal muscle physiology	22872	SEC31A	OMIM:618651
HP:0011804	Abnormal muscle physiology	5297	PI4KA	OMIM:619621
HP:0011804	Abnormal muscle physiology	25930	PTPN23	OMIM:618890
HP:0011804	Abnormal muscle physiology	23036	ZNF292	OMIM:619188
HP:0011804	Abnormal muscle physiology	23230	VPS13A	ORPHA:2388
HP:0011804	Abnormal muscle physiology	4338	MOCS2	OMIM:252160
HP:0011804	Abnormal muscle physiology	9152	SLC6A5	OMIM:614618
HP:0011804	Abnormal muscle physiology	9152	SLC6A5	ORPHA:3197
HP:0011804	Abnormal muscle physiology	2743	GLRB	OMIM:614619
HP:0011804	Abnormal muscle physiology	2743	GLRB	ORPHA:3197
HP:0011804	Abnormal muscle physiology	9653	HS2ST1	OMIM:619194
HP:0011804	Abnormal muscle physiology	1267	CNP	OMIM:619071
HP:0011804	Abnormal muscle physiology	1727	CYB5R3	OMIM:250800
HP:0011804	Abnormal muscle physiology	1727	CYB5R3	ORPHA:621
HP:0011804	Abnormal muscle physiology	10717	AP4B1	OMIM:614066
HP:0011804	Abnormal muscle physiology	11154	AP4S1	OMIM:614067
HP:0011804	Abnormal muscle physiology	2629	GBA1	ORPHA:85212
HP:0011804	Abnormal muscle physiology	2629	GBA1	ORPHA:2072
HP:0011804	Abnormal muscle physiology	2629	GBA1	OMIM:230900
HP:0011804	Abnormal muscle physiology	55719	SLF2	OMIM:620184
HP:0011804	Abnormal muscle physiology	3800	KIF5C	OMIM:615282
HP:0011804	Abnormal muscle physiology	2232	FDXR	ORPHA:543470
HP:0011804	Abnormal muscle physiology	26227	PHGDH	OMIM:601815
HP:0011804	Abnormal muscle physiology	26227	PHGDH	ORPHA:79351
HP:0011804	Abnormal muscle physiology	4285	MIPEP	OMIM:617228
HP:0011804	Abnormal muscle physiology	10297	APC2	OMIM:618677
HP:0011804	Abnormal muscle physiology	9440	MED17	OMIM:613668
HP:0011804	Abnormal muscle physiology	79971	WLS	OMIM:619648
HP:0011804	Abnormal muscle physiology	55164	SHQ1	ORPHA:256
HP:0011804	Abnormal muscle physiology	55275	VPS53	OMIM:615851
HP:0011804	Abnormal muscle physiology	25836	NIPBL	OMIM:122470
HP:0011804	Abnormal muscle physiology	25836	NIPBL	ORPHA:199
HP:0011804	Abnormal muscle physiology	5663	PSEN1	ORPHA:1020
HP:0011804	Abnormal muscle physiology	5664	PSEN2	ORPHA:1020
HP:0011804	Abnormal muscle physiology	10452	TOMM40	ORPHA:1020
HP:0011804	Abnormal muscle physiology	351	APP	ORPHA:1020
HP:0011804	Abnormal muscle physiology	10347	ABCA7	ORPHA:1020
HP:0011804	Abnormal muscle physiology	6653	SORL1	ORPHA:1020
HP:0011804	Abnormal muscle physiology	10195	ALG3	ORPHA:79321
HP:0011804	Abnormal muscle physiology	10195	ALG3	OMIM:601110
HP:0011804	Abnormal muscle physiology	51750	RTEL1	ORPHA:3322
HP:0011804	Abnormal muscle physiology	65057	ACD	ORPHA:3322
HP:0011804	Abnormal muscle physiology	5073	PARN	ORPHA:3322
HP:0011804	Abnormal muscle physiology	26277	TINF2	ORPHA:3322
HP:0011804	Abnormal muscle physiology	26277	TINF2	OMIM:268130
HP:0011804	Abnormal muscle physiology	1736	DKC1	ORPHA:3322
HP:0011804	Abnormal muscle physiology	6509	SLC1A4	ORPHA:447997
HP:0011804	Abnormal muscle physiology	9526	MPDU1	ORPHA:79323
HP:0011804	Abnormal muscle physiology	9526	MPDU1	OMIM:609180
HP:0011804	Abnormal muscle physiology	64324	NSD1	ORPHA:3447
HP:0011804	Abnormal muscle physiology	51645	PPIL1	OMIM:619301
HP:0011804	Abnormal muscle physiology	51362	CDC40	OMIM:619302
HP:0011804	Abnormal muscle physiology	9445	ITM2B	OMIM:176500
HP:0011804	Abnormal muscle physiology	10535	RNASEH2A	ORPHA:51
HP:0011804	Abnormal muscle physiology	25939	SAMHD1	ORPHA:51
HP:0011804	Abnormal muscle physiology	79621	RNASEH2B	ORPHA:51
HP:0011804	Abnormal muscle physiology	100147744	RNU7-1	ORPHA:51
HP:0011804	Abnormal muscle physiology	100147744	RNU7-1	OMIM:619487
HP:0011804	Abnormal muscle physiology	134353	LSM11	ORPHA:51
HP:0011804	Abnormal muscle physiology	6513	SLC2A1	ORPHA:71277
HP:0011804	Abnormal muscle physiology	6513	SLC2A1	OMIM:608885
HP:0011804	Abnormal muscle physiology	6513	SLC2A1	ORPHA:168577
HP:0011804	Abnormal muscle physiology	84706	GPT2	OMIM:616281
HP:0011804	Abnormal muscle physiology	84894	LINGO1	OMIM:618103
HP:0011804	Abnormal muscle physiology	10785	WDR4	OMIM:618346
HP:0011804	Abnormal muscle physiology	10785	WDR4	ORPHA:2065
HP:0011804	Abnormal muscle physiology	30000	TNPO2	OMIM:619556
HP:0011804	Abnormal muscle physiology	54892	NCAPG2	OMIM:618460
HP:0011804	Abnormal muscle physiology	23314	SATB2	ORPHA:251028
HP:0011804	Abnormal muscle physiology	85476	GFM1	OMIM:609060
HP:0011804	Abnormal muscle physiology	3785	KCNQ2	ORPHA:306
HP:0011804	Abnormal muscle physiology	3786	KCNQ3	ORPHA:306
HP:0011804	Abnormal muscle physiology	5309	PITX3	OMIM:610623
HP:0011804	Abnormal muscle physiology	81570	CLPB	ORPHA:445038
HP:0011804	Abnormal muscle physiology	4967	OGDH	ORPHA:31
HP:0011804	Abnormal muscle physiology	23114	NFASC	OMIM:618356
HP:0011804	Abnormal muscle physiology	1806	DPYD	OMIM:274270
HP:0011804	Abnormal muscle physiology	1806	DPYD	ORPHA:1675
HP:0011804	Abnormal muscle physiology	5053	PAH	ORPHA:79254
HP:0011804	Abnormal muscle physiology	2067	ERCC1	OMIM:610758
HP:0011804	Abnormal muscle physiology	2067	ERCC1	ORPHA:1466
HP:0011804	Abnormal muscle physiology	79068	FTO	OMIM:612938
HP:0011804	Abnormal muscle physiology	4784	NFIX	OMIM:602535
HP:0011804	Abnormal muscle physiology	10588	MTHFS	OMIM:618367
HP:0011804	Abnormal muscle physiology	63925	ZNF335	OMIM:615095
HP:0011804	Abnormal muscle physiology	2073	ERCC5	ORPHA:1466
HP:0011804	Abnormal muscle physiology	23229	ARHGEF9	ORPHA:163985
HP:0011804	Abnormal muscle physiology	23229	ARHGEF9	OMIM:300607
HP:0011804	Abnormal muscle physiology	2138	EYA1	ORPHA:2792
HP:0011804	Abnormal muscle physiology	5075	PAX1	ORPHA:2792
HP:0011804	Abnormal muscle physiology	1737	DLAT	ORPHA:79244
HP:0011804	Abnormal muscle physiology	91647	ATPAF2	OMIM:604273
HP:0011804	Abnormal muscle physiology	27031	NPHP3	OMIM:267010
HP:0011804	Abnormal muscle physiology	5903	RANBP2	ORPHA:88619
HP:0011804	Abnormal muscle physiology	5903	RANBP2	OMIM:608033
HP:0011804	Abnormal muscle physiology	2741	GLRA1	ORPHA:3197
HP:0011804	Abnormal muscle physiology	2741	GLRA1	OMIM:149400
HP:0011804	Abnormal muscle physiology	84896	ATAD1	ORPHA:3197
HP:0011804	Abnormal muscle physiology	84896	ATAD1	OMIM:618011
HP:0011804	Abnormal muscle physiology	26040	SETBP1	OMIM:616078
HP:0011804	Abnormal muscle physiology	26040	SETBP1	ORPHA:798
HP:0011804	Abnormal muscle physiology	3188	HNRNPH2	OMIM:300986
HP:0011804	Abnormal muscle physiology	54664	TMEM106B	OMIM:617964
HP:0011804	Abnormal muscle physiology	64374	SIL1	ORPHA:559
HP:0011804	Abnormal muscle physiology	51763	INPP5K	ORPHA:559
HP:0011804	Abnormal muscle physiology	5873	RAB27A	ORPHA:79477
HP:0011804	Abnormal muscle physiology	23476	BRD4	ORPHA:199
HP:0011804	Abnormal muscle physiology	9126	SMC3	ORPHA:199
HP:0011804	Abnormal muscle physiology	5885	RAD21	ORPHA:199
HP:0011804	Abnormal muscle physiology	11212	PLPBP	OMIM:617290
HP:0011804	Abnormal muscle physiology	55697	VAC14	OMIM:617054
HP:0011804	Abnormal muscle physiology	51501	HIKESHI	OMIM:616881
HP:0011804	Abnormal muscle physiology	6711	SPTBN1	OMIM:619475
HP:0011804	Abnormal muscle physiology	58494	JAM2	OMIM:618824
HP:0011804	Abnormal muscle physiology	9894	TELO2	ORPHA:488642
HP:0011804	Abnormal muscle physiology	8405	SPOP	OMIM:618828
HP:0011804	Abnormal muscle physiology	1528	CYB5A	ORPHA:621
HP:0011804	Abnormal muscle physiology	1718	DHCR24	ORPHA:35107
HP:0011804	Abnormal muscle physiology	2571	GAD1	OMIM:619124
HP:0011804	Abnormal muscle physiology	440138	ALG11	ORPHA:280071
HP:0011804	Abnormal muscle physiology	57688	ZSWIM6	OMIM:617865
HP:0011804	Abnormal muscle physiology	2893	GRIA4	OMIM:617864
HP:0011804	Abnormal muscle physiology	4976	OPA1	OMIM:616896
HP:0011804	Abnormal muscle physiology	3832	KIF11	ORPHA:2526
HP:0011804	Abnormal muscle physiology	4190	MDH1	OMIM:618959
HP:0011804	Abnormal muscle physiology	2593	GAMT	OMIM:612736
HP:0011804	Abnormal muscle physiology	3516	RBPJ	ORPHA:974
HP:0011804	Abnormal muscle physiology	4851	NOTCH1	ORPHA:974
HP:0011804	Abnormal muscle physiology	57572	DOCK6	ORPHA:974
HP:0011804	Abnormal muscle physiology	285203	EOGT	ORPHA:974
HP:0011804	Abnormal muscle physiology	54567	DLL4	ORPHA:974
HP:0011804	Abnormal muscle physiology	113246	C12orf57	OMIM:218340
HP:0011804	Abnormal muscle physiology	55691	FRMD4A	ORPHA:466688
HP:0011804	Abnormal muscle physiology	54888	NSUN2	OMIM:611091
HP:0011804	Abnormal muscle physiology	85378	TUBGCP6	ORPHA:2518
HP:0011804	Abnormal muscle physiology	27229	TUBGCP4	ORPHA:2518
HP:0011804	Abnormal muscle physiology	10733	PLK4	ORPHA:2518
HP:0011804	Abnormal muscle physiology	23529	CLCF1	ORPHA:1545
HP:0011804	Abnormal muscle physiology	9244	CRLF1	ORPHA:1545
HP:0011804	Abnormal muscle physiology	3735	KARS1	OMIM:619147
HP:0011804	Abnormal muscle physiology	5860	QDPR	OMIM:261630
HP:0011804	Abnormal muscle physiology	51075	TMX2	OMIM:618730
HP:0011804	Abnormal muscle physiology	1496	CTNNA2	OMIM:618174
HP:0011804	Abnormal muscle physiology	35	ACADS	ORPHA:26792
HP:0011804	Abnormal muscle physiology	221927	BRAT1	OMIM:618056
HP:0011804	Abnormal muscle physiology	221927	BRAT1	OMIM:614498
HP:0011804	Abnormal muscle physiology	9373	PLAA	OMIM:617527
HP:0011804	Abnormal muscle physiology	51002	TPRKB	ORPHA:2065
HP:0011804	Abnormal muscle physiology	84942	WDR73	ORPHA:2065
HP:0011804	Abnormal muscle physiology	55644	OSGEP	ORPHA:2065
HP:0011804	Abnormal muscle physiology	57122	NUP107	ORPHA:2065
HP:0011804	Abnormal muscle physiology	55746	NUP133	ORPHA:2065
HP:0011804	Abnormal muscle physiology	112858	TP53RK	ORPHA:2065
HP:0011804	Abnormal muscle physiology	8270	LAGE3	ORPHA:2065
HP:0011804	Abnormal muscle physiology	8942	KYNU	ORPHA:79155
HP:0011804	Abnormal muscle physiology	140803	TRPM6	OMIM:602014
HP:0011804	Abnormal muscle physiology	6899	TBX1	OMIM:188400
HP:0011804	Abnormal muscle physiology	6899	TBX1	ORPHA:567
HP:0011804	Abnormal muscle physiology	6557	SLC12A1	OMIM:601678
HP:0011804	Abnormal muscle physiology	3758	KCNJ1	OMIM:241200
HP:0011804	Abnormal muscle physiology	10312	TCIRG1	OMIM:259700
HP:0011804	Abnormal muscle physiology	5741	PTH	OMIM:146200
HP:0011804	Abnormal muscle physiology	2625	GATA3	OMIM:146255
HP:0011804	Abnormal muscle physiology	10686	CLDN16	OMIM:248250
HP:0011804	Abnormal muscle physiology	1312	COMT	ORPHA:567
HP:0011804	Abnormal muscle physiology	221037	JMJD1C	ORPHA:567
HP:0011804	Abnormal muscle physiology	2812	GP1BB	ORPHA:567
HP:0011804	Abnormal muscle physiology	6239	RREB1	ORPHA:567
HP:0011804	Abnormal muscle physiology	7290	HIRA	ORPHA:567
HP:0011804	Abnormal muscle physiology	9632	SEC24C	ORPHA:567
HP:0011804	Abnormal muscle physiology	7353	UFD1	ORPHA:567
HP:0011804	Abnormal muscle physiology	421	ARVCF	ORPHA:567
HP:0011804	Abnormal muscle physiology	58528	RRAGD	OMIM:620152
HP:0011804	Abnormal muscle physiology	2934	GSN	OMIM:105120
HP:0011804	Abnormal muscle physiology	84065	TMEM222	OMIM:619470
HP:0011804	Abnormal muscle physiology	51399	TRAPPC4	OMIM:618741
HP:0011804	Abnormal muscle physiology	4337	MOCS1	OMIM:252150
HP:0011804	Abnormal muscle physiology	60558	GUF1	OMIM:617065
HP:0011804	Abnormal muscle physiology	549	AUH	ORPHA:67046
HP:0011804	Abnormal muscle physiology	387787	LIPT2	OMIM:617668
HP:0011804	Abnormal muscle physiology	4010	LMX1B	ORPHA:495818
HP:0011804	Abnormal muscle physiology	6812	STXBP1	ORPHA:495818
HP:0011804	Abnormal muscle physiology	10157	AASS	ORPHA:2203
HP:0011804	Abnormal muscle physiology	498	ATP5F1A	OMIM:620358
HP:0011804	Abnormal muscle physiology	79944	L2HGDH	OMIM:236792
HP:0011804	Abnormal muscle physiology	79944	L2HGDH	ORPHA:79314
HP:0011804	Abnormal muscle physiology	2192	FBLN1	ORPHA:404451
HP:0011804	Abnormal muscle physiology	2937	GSS	OMIM:266130
HP:0011804	Abnormal muscle physiology	348	APOE	OMIM:607822
HP:0011804	Abnormal muscle physiology	7143	TNR	OMIM:619653
HP:0011804	Abnormal muscle physiology	3899	AFF3	OMIM:619297
HP:0011804	Abnormal muscle physiology	29960	MRM2	OMIM:618567
HP:0011804	Abnormal muscle physiology	56978	PRDM8	ORPHA:324290
HP:0011804	Abnormal muscle physiology	2137	EXTL3	ORPHA:508533
HP:0011804	Abnormal muscle physiology	8036	SHOC2	OMIM:607721
HP:0011804	Abnormal muscle physiology	10617	STAMBP	OMIM:614261
HP:0011804	Abnormal muscle physiology	104	ADARB1	OMIM:618862
HP:0011804	Abnormal muscle physiology	23019	CNOT1	OMIM:618500
HP:0011804	Abnormal muscle physiology	23019	CNOT1	OMIM:619033
HP:0011804	Abnormal muscle physiology	28981	IFT81	OMIM:617895
HP:0011804	Abnormal muscle physiology	50651	SLC45A1	OMIM:617532
HP:0011804	Abnormal muscle physiology	51569	UFM1	OMIM:617899
HP:0011804	Abnormal muscle physiology	1024	CDK8	OMIM:618748
HP:0011804	Abnormal muscle physiology	6659	SOX4	OMIM:618506
HP:0011804	Abnormal muscle physiology	51126	NAA20	OMIM:619717
HP:0011804	Abnormal muscle physiology	10059	DNM1L	OMIM:614388
HP:0011804	Abnormal muscle physiology	60684	TRAPPC11	OMIM:615356
HP:0011804	Abnormal muscle physiology	4860	PNP	OMIM:613179
HP:0011804	Abnormal muscle physiology	6228	RPS23	OMIM:617412
HP:0011804	Abnormal muscle physiology	9254	CACNA2D2	OMIM:618501
HP:0011804	Abnormal muscle physiology	23417	MLYCD	OMIM:248360
HP:0011804	Abnormal muscle physiology	2720	GLB1	OMIM:230600
HP:0011804	Abnormal muscle physiology	84334	COA8	ORPHA:436271
HP:0011804	Abnormal muscle physiology	5830	PEX5	OMIM:214110
HP:0011804	Abnormal muscle physiology	64220	STRA6	OMIM:601186
HP:0011804	Abnormal muscle physiology	2731	GLDC	OMIM:605899
HP:0011804	Abnormal muscle physiology	275	AMT	OMIM:605899
HP:0011804	Abnormal muscle physiology	79848	CSPP1	ORPHA:397715
HP:0011804	Abnormal muscle physiology	9786	KIAA0586	ORPHA:397715
HP:0011804	Abnormal muscle physiology	9786	KIAA0586	OMIM:616546
HP:0011804	Abnormal muscle physiology	197131	UBR1	OMIM:243800
HP:0011804	Abnormal muscle physiology	116931	MED12L	OMIM:618872
HP:0011804	Abnormal muscle physiology	80816	ASXL3	OMIM:615485
HP:0011804	Abnormal muscle physiology	10026	PIGK	OMIM:618879
HP:0011804	Abnormal muscle physiology	1785	DNM2	OMIM:615368
HP:0011804	Abnormal muscle physiology	1785	DNM2	OMIM:160150
HP:0011804	Abnormal muscle physiology	1785	DNM2	ORPHA:169189
HP:0011804	Abnormal muscle physiology	2782	GNB1	ORPHA:488613
HP:0011804	Abnormal muscle physiology	526	ATP6V1B2	OMIM:616455
HP:0011804	Abnormal muscle physiology	55690	PACS1	OMIM:615009
HP:0011804	Abnormal muscle physiology	55904	KMT2E	OMIM:618512
HP:0011804	Abnormal muscle physiology	120227	CYP2R1	OMIM:600081
HP:0011804	Abnormal muscle physiology	120227	CYP2R1	ORPHA:289157
HP:0011804	Abnormal muscle physiology	5189	PEX1	OMIM:214100
HP:0011804	Abnormal muscle physiology	5189	PEX1	OMIM:601539
HP:0011804	Abnormal muscle physiology	55650	PIGV	OMIM:239300
HP:0011804	Abnormal muscle physiology	23474	ETHE1	ORPHA:51188
HP:0011804	Abnormal muscle physiology	410	ARSA	ORPHA:309271
HP:0011804	Abnormal muscle physiology	410	ARSA	ORPHA:309263
HP:0011804	Abnormal muscle physiology	410	ARSA	OMIM:250100
HP:0011804	Abnormal muscle physiology	410	ARSA	ORPHA:309256
HP:0011804	Abnormal muscle physiology	10559	SLC35A1	OMIM:603585
HP:0011804	Abnormal muscle physiology	55687	TRMU	OMIM:613070
HP:0011804	Abnormal muscle physiology	55687	TRMU	ORPHA:254864
HP:0011804	Abnormal muscle physiology	288	ANK3	OMIM:615493
HP:0011804	Abnormal muscle physiology	2590	GALNT2	OMIM:618885
HP:0011804	Abnormal muscle physiology	818	CAMK2G	OMIM:618522
HP:0011804	Abnormal muscle physiology	55154	MSTO1	OMIM:617675
HP:0011804	Abnormal muscle physiology	55154	MSTO1	ORPHA:502423
HP:0011804	Abnormal muscle physiology	7436	VLDLR	OMIM:224050
HP:0011804	Abnormal muscle physiology	83480	PUS3	ORPHA:488627
HP:0011804	Abnormal muscle physiology	157680	VPS13B	OMIM:216550
HP:0011804	Abnormal muscle physiology	4620	MYH2	OMIM:605637
HP:0011804	Abnormal muscle physiology	6872	TAF1	ORPHA:480907
HP:0011804	Abnormal muscle physiology	6872	TAF1	OMIM:300966
HP:0011804	Abnormal muscle physiology	8726	EED	OMIM:617561
HP:0011804	Abnormal muscle physiology	1303	COL12A1	OMIM:616471
HP:0011804	Abnormal muscle physiology	1303	COL12A1	ORPHA:75840
HP:0011804	Abnormal muscle physiology	54968	TMEM70	OMIM:614052
HP:0011804	Abnormal muscle physiology	4330	MN1	OMIM:618774
HP:0011804	Abnormal muscle physiology	1594	CYP27B1	OMIM:264700
HP:0011804	Abnormal muscle physiology	1594	CYP27B1	ORPHA:289157
HP:0011804	Abnormal muscle physiology	88	ACTN2	OMIM:618654
HP:0011804	Abnormal muscle physiology	5528	PPP2R5D	OMIM:616355
HP:0011804	Abnormal muscle physiology	5528	PPP2R5D	ORPHA:457279
HP:0011804	Abnormal muscle physiology	39	ACAT2	OMIM:614055
HP:0011804	Abnormal muscle physiology	2783	GNB2	OMIM:619503
HP:0011804	Abnormal muscle physiology	79731	NARS2	OMIM:616239
HP:0011804	Abnormal muscle physiology	3782	KCNN3	OMIM:618658
HP:0011804	Abnormal muscle physiology	6905	TBCE	OMIM:617207
HP:0011804	Abnormal muscle physiology	6905	TBCE	ORPHA:496756
HP:0011804	Abnormal muscle physiology	284439	SLC25A42	OMIM:618416
HP:0011804	Abnormal muscle physiology	8642	DCHS1	OMIM:601390
HP:0011804	Abnormal muscle physiology	4247	MGAT2	OMIM:212066
HP:0011804	Abnormal muscle physiology	4247	MGAT2	ORPHA:79329
HP:0011804	Abnormal muscle physiology	8241	RBM10	OMIM:311900
HP:0011804	Abnormal muscle physiology	8241	RBM10	ORPHA:2886
HP:0011804	Abnormal muscle physiology	1947	EFNB1	OMIM:304110
HP:0011804	Abnormal muscle physiology	11285	B4GALT7	OMIM:130070
HP:0011804	Abnormal muscle physiology	1187	CLCNKA	OMIM:613090
HP:0011804	Abnormal muscle physiology	1188	CLCNKB	OMIM:613090
HP:0011804	Abnormal muscle physiology	1186	CLCN7	OMIM:618541
HP:0011804	Abnormal muscle physiology	339983	NAT8L	OMIM:614063
HP:0011804	Abnormal muscle physiology	8260	NAA10	OMIM:309800
HP:0011804	Abnormal muscle physiology	8260	NAA10	ORPHA:276432
HP:0011804	Abnormal muscle physiology	54880	BCOR	OMIM:309800
HP:0011804	Abnormal muscle physiology	23512	SUZ12	OMIM:618786
HP:0011804	Abnormal muscle physiology	29081	METTL5	OMIM:618665
HP:0011804	Abnormal muscle physiology	8879	SGPL1	OMIM:617575
HP:0011804	Abnormal muscle physiology	51604	PIGT	OMIM:615398
HP:0011804	Abnormal muscle physiology	84504	NKX6-2	ORPHA:527497
HP:0011804	Abnormal muscle physiology	23126	POGZ	OMIM:616364
HP:0011804	Abnormal muscle physiology	55773	TBC1D23	OMIM:617695
HP:0011804	Abnormal muscle physiology	8558	CDK10	OMIM:617694
HP:0011804	Abnormal muscle physiology	51633	OTUD6B	OMIM:617452
HP:0011804	Abnormal muscle physiology	51633	OTUD6B	ORPHA:505237
HP:0011804	Abnormal muscle physiology	92609	TIMM50	OMIM:617698
HP:0011804	Abnormal muscle physiology	8021	NUP214	OMIM:618426
HP:0011804	Abnormal muscle physiology	2643	GCH1	OMIM:233910
HP:0011804	Abnormal muscle physiology	6638	SNRPN	OMIM:105830
HP:0011804	Abnormal muscle physiology	7337	UBE3A	OMIM:105830
HP:0011804	Abnormal muscle physiology	166785	MMAA	OMIM:251100
HP:0011804	Abnormal muscle physiology	5551	PRF1	OMIM:603553
HP:0011804	Abnormal muscle physiology	122961	ISCA2	OMIM:616370
HP:0011804	Abnormal muscle physiology	8733	GPAA1	ORPHA:529665
HP:0011804	Abnormal muscle physiology	5621	PRNP	ORPHA:157941
HP:0011804	Abnormal muscle physiology	7358	UGDH	OMIM:618792
HP:0011804	Abnormal muscle physiology	59336	PRDM13	OMIM:619761
HP:0011804	Abnormal muscle physiology	200424	TET3	OMIM:618798
HP:0011804	Abnormal muscle physiology	9772	TMEM94	OMIM:618316
HP:0011804	Abnormal muscle physiology	124583	CANT1	OMIM:251450
HP:0011804	Abnormal muscle physiology	51567	TDP2	ORPHA:404493
HP:0011804	Abnormal muscle physiology	51567	TDP2	OMIM:616949
HP:0011804	Abnormal muscle physiology	57104	PNPLA2	OMIM:610717
HP:0011804	Abnormal muscle physiology	57104	PNPLA2	ORPHA:98908
HP:0011804	Abnormal muscle physiology	2271	FH	OMIM:606812
HP:0011804	Abnormal muscle physiology	23556	PIGN	OMIM:614080
HP:0011804	Abnormal muscle physiology	4351	MPI	OMIM:602579
HP:0011804	Abnormal muscle physiology	3835	KIF22	OMIM:603546
HP:0011804	Abnormal muscle physiology	23007	PLCH1	OMIM:619895
HP:0011804	Abnormal muscle physiology	9922	IQSEC1	OMIM:618687
HP:0011804	Abnormal muscle physiology	2562	GABRB3	OMIM:617113
HP:0011804	Abnormal muscle physiology	4099	MAG	ORPHA:459056
HP:0011804	Abnormal muscle physiology	64919	BCL11B	OMIM:617237
HP:0011804	Abnormal muscle physiology	7994	KAT6A	OMIM:616268
HP:0011804	Abnormal muscle physiology	404672	GTF2H5	ORPHA:33364
HP:0011804	Abnormal muscle physiology	833	CARS1	ORPHA:33364
HP:0011804	Abnormal muscle physiology	2068	ERCC2	ORPHA:33364
HP:0011804	Abnormal muscle physiology	7737	RNF113A	ORPHA:33364
HP:0011804	Abnormal muscle physiology	136647	MPLKIP	ORPHA:33364
HP:0011804	Abnormal muscle physiology	6897	TARS1	ORPHA:33364
HP:0011804	Abnormal muscle physiology	2071	ERCC3	ORPHA:33364
HP:0011804	Abnormal muscle physiology	2961	GTF2E2	ORPHA:33364
HP:0011804	Abnormal muscle physiology	79087	ALG12	ORPHA:79324
HP:0011804	Abnormal muscle physiology	79087	ALG12	OMIM:607143
HP:0011804	Abnormal muscle physiology	57192	MCOLN1	OMIM:252650
HP:0011804	Abnormal muscle physiology	1967	EIF2B1	OMIM:603896
HP:0011804	Abnormal muscle physiology	54903	MKS1	OMIM:617121
HP:0011804	Abnormal muscle physiology	7040	TGFB1	OMIM:618213
HP:0011804	Abnormal muscle physiology	1892	ECHS1	OMIM:616277
HP:0011804	Abnormal muscle physiology	5587	PRKD1	OMIM:617364
HP:0011804	Abnormal muscle physiology	27429	HTRA2	OMIM:617248
HP:0011804	Abnormal muscle physiology	7227	TRPS1	OMIM:190350
HP:0011804	Abnormal muscle physiology	5081	PAX7	OMIM:618578
HP:0011804	Abnormal muscle physiology	389827	MYMK	OMIM:254940
HP:0011804	Abnormal muscle physiology	7080	NKX2-1	OMIM:610978
HP:0011804	Abnormal muscle physiology	2879	GPX4	OMIM:250220
HP:0011804	Abnormal muscle physiology	2879	GPX4	ORPHA:93317
HP:0011804	Abnormal muscle physiology	9949	AMMECR1	OMIM:300990
HP:0011804	Abnormal muscle physiology	291	SLC25A4	ORPHA:254892
HP:0011804	Abnormal muscle physiology	291	SLC25A4	OMIM:617184
HP:0011804	Abnormal muscle physiology	5428	POLG	ORPHA:254892
HP:0011804	Abnormal muscle physiology	5428	POLG	ORPHA:94125
HP:0011804	Abnormal muscle physiology	5428	POLG	OMIM:203700
HP:0011804	Abnormal muscle physiology	5428	POLG	OMIM:613662
HP:0011804	Abnormal muscle physiology	56652	TWNK	ORPHA:254892
HP:0011804	Abnormal muscle physiology	11232	POLG2	ORPHA:254892
HP:0011804	Abnormal muscle physiology	11232	POLG2	OMIM:610131
HP:0011804	Abnormal muscle physiology	9361	LONP1	OMIM:600373
HP:0011804	Abnormal muscle physiology	9488	PIGB	OMIM:618580
HP:0011804	Abnormal muscle physiology	6134	RPL10	OMIM:300998
HP:0011804	Abnormal muscle physiology	1173	AP2M1	OMIM:618587
HP:0011804	Abnormal muscle physiology	8506	CNTNAP1	OMIM:616286
HP:0011804	Abnormal muscle physiology	54517	PUS7	OMIM:618342
HP:0011804	Abnormal muscle physiology	57102	C12orf4	OMIM:618221
HP:0011804	Abnormal muscle physiology	56203	LMOD3	OMIM:616165
HP:0011804	Abnormal muscle physiology	10564	ARFGEF2	OMIM:608097
HP:0011804	Abnormal muscle physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0011804	Abnormal muscle physiology	100151683	RNU4ATAC	OMIM:616651
HP:0011804	Abnormal muscle physiology	9256	TSPOAP1	ORPHA:101150
HP:0011804	Abnormal muscle physiology	7054	TH	ORPHA:101150
HP:0011804	Abnormal muscle physiology	50814	NSDHL	ORPHA:251383
HP:0011804	Abnormal muscle physiology	50814	NSDHL	OMIM:300831
HP:0011804	Abnormal muscle physiology	10102	TSFM	OMIM:610505
HP:0011804	Abnormal muscle physiology	3708	ITPR1	ORPHA:208513
HP:0011804	Abnormal muscle physiology	3708	ITPR1	OMIM:206700
HP:0011804	Abnormal muscle physiology	7681	MKRN3	OMIM:176270
HP:0011804	Abnormal muscle physiology	3653	IPW	OMIM:176270
HP:0011804	Abnormal muscle physiology	54551	MAGEL2	OMIM:176270
HP:0011804	Abnormal muscle physiology	791114	PWRN1	OMIM:176270
HP:0011804	Abnormal muscle physiology	100033413	SNORD116-1	OMIM:176270
HP:0011804	Abnormal muscle physiology	8924	HERC2	OMIM:176270
HP:0011804	Abnormal muscle physiology	8924	HERC2	OMIM:615516
HP:0011804	Abnormal muscle physiology	145624	PWAR1	OMIM:176270
HP:0011804	Abnormal muscle physiology	23742	NPAP1	OMIM:176270
HP:0011804	Abnormal muscle physiology	338433	SNORD115-1	OMIM:176270
HP:0011804	Abnormal muscle physiology	56945	MRPS22	OMIM:611719
HP:0011804	Abnormal muscle physiology	1120	CHKB	OMIM:602541
HP:0011804	Abnormal muscle physiology	55869	HDAC8	OMIM:300882
HP:0011804	Abnormal muscle physiology	56521	DNAJC12	OMIM:617384
HP:0011804	Abnormal muscle physiology	57520	HECW2	OMIM:617268
HP:0011804	Abnormal muscle physiology	1654	DDX3X	ORPHA:457260
HP:0011804	Abnormal muscle physiology	1760	DMPK	OMIM:160900
HP:0011804	Abnormal muscle physiology	7846	TUBA1A	OMIM:611603
HP:0011804	Abnormal muscle physiology	10166	SLC25A15	ORPHA:415
HP:0011804	Abnormal muscle physiology	3417	IDH1	ORPHA:99646
HP:0011804	Abnormal muscle physiology	3192	HNRNPU	OMIM:617391
HP:0011804	Abnormal muscle physiology	55967	NDUFA12	OMIM:618244
HP:0011804	Abnormal muscle physiology	7084	TK2	ORPHA:254875
HP:0011804	Abnormal muscle physiology	7084	TK2	OMIM:609560
HP:0011804	Abnormal muscle physiology	28982	FLVCR1	ORPHA:88628
HP:0011804	Abnormal muscle physiology	56915	EXOSC5	OMIM:619576
HP:0011804	Abnormal muscle physiology	51132	RLIM	OMIM:300978
HP:0011804	Abnormal muscle physiology	4125	MAN2B1	OMIM:248500
HP:0011804	Abnormal muscle physiology	23345	SYNE1	OMIM:618484
HP:0011804	Abnormal muscle physiology	11274	USP18	OMIM:617397
HP:0011804	Abnormal muscle physiology	201163	FLCN	OMIM:610883
HP:0011804	Abnormal muscle physiology	2019	EN1	OMIM:619218
HP:0011804	Abnormal muscle physiology	23203	PMPCA	OMIM:213200
HP:0011804	Abnormal muscle physiology	4864	NPC1	OMIM:257220
HP:0011804	Abnormal muscle physiology	55750	AGK	OMIM:212350
HP:0011804	Abnormal muscle physiology	6821	SUOX	OMIM:272300
HP:0011804	Abnormal muscle physiology	22827	PUF60	ORPHA:508488
HP:0011804	Abnormal muscle physiology	2898	GRIK2	OMIM:619580
HP:0011804	Abnormal muscle physiology	80324	PUS1	OMIM:600462
HP:0011804	Abnormal muscle physiology	1781	DYNC1I2	OMIM:618492
HP:0011804	Abnormal muscle physiology	112812	FDX2	OMIM:251900
HP:0011804	Abnormal muscle physiology	56776	FMN2	OMIM:616193
HP:0011804	Abnormal muscle physiology	23111	SPART	ORPHA:101000
HP:0011804	Abnormal muscle physiology	7809	BSND	OMIM:602522
HP:0011804	Abnormal muscle physiology	1277	COL1A1	OMIM:130060
HP:0011804	Abnormal muscle physiology	1277	COL1A1	OMIM:619115
HP:0011804	Abnormal muscle physiology	26276	VPS33B	OMIM:208085
HP:0011804	Abnormal muscle physiology	63931	MRPS14	OMIM:618378
HP:0011804	Abnormal muscle physiology	3977	LIFR	OMIM:601559
HP:0011804	Abnormal muscle physiology	54681	P4HTM	OMIM:618493
HP:0011804	Abnormal muscle physiology	4714	NDUFB8	OMIM:618252
HP:0011804	Abnormal muscle physiology	5283	PIGH	OMIM:618010
HP:0011804	Abnormal muscle physiology	7403	KDM6A	OMIM:300867
HP:0011804	Abnormal muscle physiology	4126	MANBA	OMIM:248510
HP:0011804	Abnormal muscle physiology	51305	KCNK9	ORPHA:166108
HP:0011804	Abnormal muscle physiology	1280	COL2A1	OMIM:183900
HP:0011804	Abnormal muscle physiology	2218	FKTN	ORPHA:370980
HP:0011804	Abnormal muscle physiology	2218	FKTN	OMIM:253800
HP:0011804	Abnormal muscle physiology	729920	CRPPA	ORPHA:370980
HP:0011804	Abnormal muscle physiology	729920	CRPPA	OMIM:614643
HP:0011804	Abnormal muscle physiology	10585	POMT1	ORPHA:370980
HP:0011804	Abnormal muscle physiology	4990	SIX6	OMIM:206900
HP:0011804	Abnormal muscle physiology	6657	SOX2	OMIM:206900
HP:0011804	Abnormal muscle physiology	4548	MTR	OMIM:250940
HP:0011804	Abnormal muscle physiology	9791	PTDSS1	OMIM:151050
HP:0011804	Abnormal muscle physiology	23322	RPGRIP1L	OMIM:619113
HP:0011804	Abnormal muscle physiology	23322	RPGRIP1L	OMIM:611560
HP:0011804	Abnormal muscle physiology	139411	PTCHD1	OMIM:300830
HP:0011804	Abnormal muscle physiology	65250	CPLANE1	OMIM:277170
HP:0011804	Abnormal muscle physiology	65250	CPLANE1	ORPHA:2754
HP:0011804	Abnormal muscle physiology	51095	TRNT1	OMIM:616084
HP:0011804	Abnormal muscle physiology	64849	SLC13A3	OMIM:618384
HP:0011804	Abnormal muscle physiology	348180	CTU2	OMIM:618142
HP:0011804	Abnormal muscle physiology	94005	PIGS	OMIM:618143
HP:0011804	Abnormal muscle physiology	57514	ARHGAP31	OMIM:100300
HP:0011804	Abnormal muscle physiology	4361	MRE11	ORPHA:251347
HP:0011804	Abnormal muscle physiology	788	SLC25A20	OMIM:212138
HP:0011804	Abnormal muscle physiology	4983	OPHN1	ORPHA:137831
HP:0011804	Abnormal muscle physiology	4983	OPHN1	OMIM:300486
HP:0011804	Abnormal muscle physiology	9968	MED12	OMIM:309520
HP:0011804	Abnormal muscle physiology	31	ACACA	OMIM:613933
HP:0011804	Abnormal muscle physiology	113189	CHST14	OMIM:601776
HP:0011804	Abnormal muscle physiology	5290	PIK3CA	OMIM:602501
HP:0011804	Abnormal muscle physiology	3636	INPPL1	OMIM:258480
HP:0011804	Abnormal muscle physiology	2077	ERF	OMIM:617180
HP:0011804	Abnormal muscle physiology	90522	YIF1B	OMIM:619125
HP:0011804	Abnormal muscle physiology	5058	PAK1	OMIM:618158
HP:0011804	Abnormal muscle physiology	8239	USP9X	OMIM:300968
HP:0011804	Abnormal muscle physiology	10651	MTX2	OMIM:619127
HP:0011804	Abnormal muscle physiology	1278	COL1A2	OMIM:619120
HP:0011804	Abnormal muscle physiology	1278	COL1A2	OMIM:617821
HP:0011804	Abnormal muscle physiology	9326	ZNHIT3	OMIM:260565
HP:0011804	Abnormal muscle physiology	22983	MAST1	OMIM:618273
HP:0011804	Abnormal muscle physiology	28514	DLL1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	2253	FGF8	ORPHA:280195
HP:0011804	Abnormal muscle physiology	6496	SIX3	ORPHA:280195
HP:0011804	Abnormal muscle physiology	6496	SIX3	OMIM:157170
HP:0011804	Abnormal muscle physiology	7050	TGIF1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	4838	NODAL	ORPHA:280195
HP:0011804	Abnormal muscle physiology	6469	SHH	ORPHA:280195
HP:0011804	Abnormal muscle physiology	7546	ZIC2	ORPHA:280195
HP:0011804	Abnormal muscle physiology	6491	STIL	ORPHA:280195
HP:0011804	Abnormal muscle physiology	2619	GAS1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	84976	DISP1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	2736	GLI2	ORPHA:280195
HP:0011804	Abnormal muscle physiology	8928	FOXH1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	5727	PTCH1	ORPHA:280195
HP:0011804	Abnormal muscle physiology	50937	CDON	ORPHA:280195
HP:0011804	Abnormal muscle physiology	79143	MBOAT7	OMIM:617188
HP:0011804	Abnormal muscle physiology	23096	IQSEC2	OMIM:309530
HP:0011804	Abnormal muscle physiology	5625	PRODH	OMIM:239500
HP:0011804	Abnormal muscle physiology	673	BRAF	OMIM:613706
HP:0011804	Abnormal muscle physiology	673	BRAF	OMIM:115150
HP:0011804	Abnormal muscle physiology	126792	B3GALT6	OMIM:271640
HP:0011804	Abnormal muscle physiology	201595	STT3B	ORPHA:370924
HP:0011804	Abnormal muscle physiology	403	ARL3	OMIM:618161
HP:0011804	Abnormal muscle physiology	1650	DDOST	ORPHA:300536
HP:0011804	Abnormal muscle physiology	6748	SSR4	ORPHA:370927
HP:0011804	Abnormal muscle physiology	6748	SSR4	OMIM:300934
HP:0011804	Abnormal muscle physiology	84295	PHF6	OMIM:301900
HP:0011804	Abnormal muscle physiology	9895	TECPR2	ORPHA:320385
HP:0011804	Abnormal muscle physiology	2193	FARSA	OMIM:619013
HP:0011804	Abnormal muscle physiology	89970	RSPRY1	ORPHA:457395
HP:0011804	Abnormal muscle physiology	89970	RSPRY1	OMIM:616723
HP:0011804	Abnormal muscle physiology	4668	NAGA	OMIM:609241
HP:0011804	Abnormal muscle physiology	2733	GLE1	OMIM:611890
HP:0011804	Abnormal muscle physiology	54187	NANS	OMIM:610442
HP:0011804	Abnormal muscle physiology	55005	RMND1	OMIM:614922
HP:0011804	Abnormal muscle physiology	284058	KANSL1	OMIM:610443
HP:0011804	Abnormal muscle physiology	10020	GNE	ORPHA:3166
HP:0011804	Abnormal muscle physiology	84153	RNASEH2C	OMIM:610329
HP:0011804	Abnormal muscle physiology	8139	GAN	ORPHA:643
HP:0011804	Abnormal muscle physiology	1376	CPT2	ORPHA:228308
HP:0011804	Abnormal muscle physiology	11011	TLK2	OMIM:618050
HP:0011804	Abnormal muscle physiology	3030	HADHA	ORPHA:5
HP:0011804	Abnormal muscle physiology	2316	FLNA	ORPHA:555877
HP:0011804	Abnormal muscle physiology	11342	RNF13	ORPHA:544503
HP:0011804	Abnormal muscle physiology	25886	POC1A	OMIM:614813
HP:0011804	Abnormal muscle physiology	871	SERPINH1	OMIM:613848
HP:0011804	Abnormal muscle physiology	168667	BMPER	OMIM:608022
HP:0011804	Abnormal muscle physiology	6584	SLC22A5	OMIM:212140
HP:0011804	Abnormal muscle physiology	9131	AIFM1	ORPHA:238329
HP:0011804	Abnormal muscle physiology	10682	EBP	ORPHA:401973
HP:0011804	Abnormal muscle physiology	6095	RORA	OMIM:618060
HP:0011804	Abnormal muscle physiology	8450	CUL4B	OMIM:300354
HP:0011804	Abnormal muscle physiology	158	ADSL	OMIM:103050
HP:0011804	Abnormal muscle physiology	158	ADSL	ORPHA:46
HP:0011804	Abnormal muscle physiology	324	APC	ORPHA:261584
HP:0011804	Abnormal muscle physiology	1183	CLCN4	OMIM:300114
HP:0011804	Abnormal muscle physiology	10046	MAMLD1	ORPHA:456328
HP:0011804	Abnormal muscle physiology	4534	MTM1	ORPHA:456328
HP:0011804	Abnormal muscle physiology	4574	MT-TS1	OMIM:220110
HP:0011804	Abnormal muscle physiology	4570	MT-TN	OMIM:220110
HP:0011804	Abnormal muscle physiology	6834	SURF1	OMIM:220110
HP:0011804	Abnormal muscle physiology	80308	FLAD1	OMIM:255100
HP:0011804	Abnormal muscle physiology	2904	GRIN2B	OMIM:613970
HP:0011804	Abnormal muscle physiology	55624	POMGNT1	OMIM:253280
HP:0011804	Abnormal muscle physiology	85300	ATCAY	ORPHA:94122
HP:0011804	Abnormal muscle physiology	4758	NEU1	OMIM:256550
HP:0011804	Abnormal muscle physiology	9839	ZEB2	OMIM:235730
HP:0011804	Abnormal muscle physiology	79581	SLC52A2	OMIM:614707
HP:0011804	Abnormal muscle physiology	4867	NPHP1	OMIM:609583
HP:0011804	Abnormal muscle physiology	1291	COL6A1	ORPHA:75840
HP:0011804	Abnormal muscle physiology	1292	COL6A2	ORPHA:75840
HP:0011804	Abnormal muscle physiology	1293	COL6A3	ORPHA:75840
HP:0011804	Abnormal muscle physiology	2617	GARS1	OMIM:619042
HP:0011804	Abnormal muscle physiology	51218	GLRX5	ORPHA:401866
HP:0011804	Abnormal muscle physiology	10479	SLC9A6	OMIM:300243
HP:0011804	Abnormal muscle physiology	8443	GNPAT	OMIM:222765
HP:0011804	Abnormal muscle physiology	6341	SCO1	OMIM:619048
HP:0011804	Abnormal muscle physiology	374654	KIF7	OMIM:200990
HP:0011804	Abnormal muscle physiology	374654	KIF7	ORPHA:2754
HP:0011804	Abnormal muscle physiology	89910	UBE3B	OMIM:244450
HP:0011804	Abnormal muscle physiology	6311	ATXN2	OMIM:183090
HP:0011804	Abnormal muscle physiology	6311	ATXN2	ORPHA:98756
HP:0011804	Abnormal muscle physiology	1352	COX10	OMIM:619046
HP:0011804	Abnormal muscle physiology	55788	LMBRD1	OMIM:277380
HP:0011804	Abnormal muscle physiology	3141	HLCS	OMIM:253270
HP:0011804	Abnormal muscle physiology	1763	DNA2	ORPHA:352470
HP:0011804	Abnormal muscle physiology	57582	KCNT1	OMIM:614959
HP:0011804	Abnormal muscle physiology	10225	CD96	OMIM:211750
HP:0011804	Abnormal muscle physiology	9382	COG1	ORPHA:263508
HP:0011804	Abnormal muscle physiology	3703	STT3A	ORPHA:370921
HP:0011804	Abnormal muscle physiology	1340	COX6B1	OMIM:619051
HP:0011804	Abnormal muscle physiology	1185	CLCN6	OMIM:619173
HP:0011804	Abnormal muscle physiology	1738	DLD	ORPHA:2394
HP:0011804	Abnormal muscle physiology	3766	KCNJ10	OMIM:612780
HP:0011804	Abnormal muscle physiology	9739	SETD1A	OMIM:619056
HP:0011804	Abnormal muscle physiology	80204	FBXO11	OMIM:618089
HP:0011804	Abnormal muscle physiology	5119	CHMP1A	OMIM:614961
HP:0011804	Abnormal muscle physiology	23522	KAT6B	OMIM:606170
HP:0011804	Abnormal muscle physiology	966	CD59	OMIM:612300
HP:0011804	Abnormal muscle physiology	8792	TNFRSF11A	OMIM:612301
HP:0011804	Abnormal muscle physiology	5015	OTX2	OMIM:610125
HP:0011804	Abnormal muscle physiology	5238	PGM3	OMIM:615816
HP:0011804	Abnormal muscle physiology	7841	MOGS	OMIM:606056
HP:0011804	Abnormal muscle physiology	64087	MCCC2	OMIM:210210
HP:0011804	Abnormal muscle physiology	10716	TBR1	OMIM:606053
HP:0011804	Abnormal muscle physiology	1339	COX6A2	OMIM:619062
HP:0011804	Abnormal muscle physiology	1717	DHCR7	OMIM:270400
HP:0011804	Abnormal muscle physiology	23116	TOGARAM1	OMIM:619185
HP:0011804	Abnormal muscle physiology	26053	AUTS2	ORPHA:352490
HP:0011804	Abnormal muscle physiology	26053	AUTS2	OMIM:615834
HP:0011804	Abnormal muscle physiology	79813	EHMT1	OMIM:610253
HP:0011804	Abnormal muscle physiology	649	BMP1	OMIM:614856
HP:0011804	Abnormal muscle physiology	4598	MVK	OMIM:610377
HP:0011804	Abnormal muscle physiology	56922	MCCC1	OMIM:210200
HP:0011804	Abnormal muscle physiology	113235	SLC46A1	OMIM:229050
HP:0011804	Abnormal muscle physiology	63894	VIPAS39	OMIM:613404
HP:0011804	Abnormal muscle physiology	2752	GLUL	OMIM:610015
HP:0011804	Abnormal muscle physiology	1906	EDN1	ORPHA:137888
HP:0011804	Abnormal muscle physiology	5332	PLCB4	ORPHA:137888
HP:0011804	Abnormal muscle physiology	2773	GNAI3	ORPHA:137888
HP:0011804	Abnormal muscle physiology	54872	PIGG	OMIM:616917
HP:0011804	Abnormal muscle physiology	5728	PTEN	ORPHA:79076
HP:0011804	Abnormal muscle physiology	657	BMPR1A	ORPHA:79076
HP:0011804	Abnormal muscle physiology	26005	C2CD3	OMIM:615948
HP:0011804	Abnormal muscle physiology	5193	PEX12	OMIM:614859
HP:0011804	Abnormal muscle physiology	5193	PEX12	OMIM:266510
HP:0011804	Abnormal muscle physiology	53834	FGFRL1	OMIM:194190
HP:0011804	Abnormal muscle physiology	1487	CTBP1	OMIM:194190
HP:0011804	Abnormal muscle physiology	3954	LETM1	OMIM:194190
HP:0011804	Abnormal muscle physiology	7468	NSD2	OMIM:194190
HP:0011804	Abnormal muscle physiology	84947	SERAC1	OMIM:614739
HP:0011804	Abnormal muscle physiology	7915	ALDH5A1	OMIM:271980
HP:0011804	Abnormal muscle physiology	2615	LRRC32	OMIM:619074
HP:0011804	Abnormal muscle physiology	4953	ODC1	OMIM:619075
HP:0011804	Abnormal muscle physiology	1629	DBT	OMIM:248600
HP:0011804	Abnormal muscle physiology	593	BCKDHA	OMIM:248600
HP:0011804	Abnormal muscle physiology	594	BCKDHB	OMIM:248600
HP:0011804	Abnormal muscle physiology	51660	MPC1	OMIM:614741
HP:0011804	Abnormal muscle physiology	5190	PEX6	OMIM:614862
HP:0011804	Abnormal muscle physiology	5190	PEX6	OMIM:614863
HP:0011804	Abnormal muscle physiology	6660	SOX5	OMIM:616803
HP:0011804	Abnormal muscle physiology	5828	PEX2	OMIM:614867
HP:0011804	Abnormal muscle physiology	285175	UNC80	OMIM:616801
HP:0011804	Abnormal muscle physiology	10290	SPEG	OMIM:615959
HP:0011804	Abnormal muscle physiology	10290	SPEG	ORPHA:169186
HP:0011804	Abnormal muscle physiology	90624	LYRM7	OMIM:615838
HP:0011804	Abnormal muscle physiology	10056	FARSB	OMIM:613658
HP:0011804	Abnormal muscle physiology	3748	KCNC3	ORPHA:98768
HP:0011804	Abnormal muscle physiology	11128	POLR3A	OMIM:264090
HP:0011804	Abnormal muscle physiology	5582	PRKCG	ORPHA:98763
HP:0011804	Abnormal muscle physiology	55343	SLC35C1	OMIM:266265
HP:0011804	Abnormal muscle physiology	55343	SLC35C1	ORPHA:99843
HP:0011804	Abnormal muscle physiology	6558	SLC12A2	OMIM:619083
HP:0011804	Abnormal muscle physiology	6558	SLC12A2	OMIM:619080
HP:0011804	Abnormal muscle physiology	25814	ATXN10	ORPHA:98761
HP:0011804	Abnormal muscle physiology	8905	AP1S2	ORPHA:85329
HP:0011804	Abnormal muscle physiology	64419	MTMR14	OMIM:160150
HP:0011804	Abnormal muscle physiology	64419	MTMR14	ORPHA:169189
HP:0011804	Abnormal muscle physiology	5594	MAPK1	OMIM:619087
HP:0011804	Abnormal muscle physiology	284217	LAMA1	OMIM:615960
HP:0011804	Abnormal muscle physiology	5340	PLG	OMIM:217090
HP:0011804	Abnormal muscle physiology	10472	ZBTB18	OMIM:612337
HP:0011804	Abnormal muscle physiology	25828	TXN2	OMIM:616811
HP:0011804	Abnormal muscle physiology	9409	PEX16	OMIM:614876
HP:0011804	Abnormal muscle physiology	51085	MLXIPL	OMIM:194050
HP:0011804	Abnormal muscle physiology	2006	ELN	OMIM:194050
HP:0011804	Abnormal muscle physiology	6310	ATXN1	ORPHA:98755
HP:0011804	Abnormal muscle physiology	6310	ATXN1	OMIM:164400
HP:0011804	Abnormal muscle physiology	5092	PCBD1	OMIM:264070
HP:0011804	Abnormal muscle physiology	4677	NARS1	OMIM:619091
HP:0011804	Abnormal muscle physiology	4677	NARS1	OMIM:619092
HP:0011804	Abnormal muscle physiology	8813	DPM1	OMIM:608799
HP:0011804	Abnormal muscle physiology	81031	SLC2A10	OMIM:208050
HP:0011804	Abnormal muscle physiology	9147	NEMF	OMIM:619099
HP:0011804	Abnormal muscle physiology	10743	RAI1	OMIM:182290
HP:0011804	Abnormal muscle physiology	27086	FOXP1	OMIM:613670
HP:0011804	Abnormal muscle physiology	26047	CNTNAP2	OMIM:610042
HP:0011804	Abnormal muscle physiology	10735	STAG2	ORPHA:521258
HP:0011804	Abnormal muscle physiology	10735	STAG2	OMIM:301022
HP:0011804	Abnormal muscle physiology	8504	PEX3	OMIM:614882
HP:0011804	Abnormal muscle physiology	1374	CPT1A	OMIM:255120
HP:0011804	Abnormal muscle physiology	6611	SMS	OMIM:309583
HP:0011804	Abnormal muscle physiology	7317	UBA1	ORPHA:1145
HP:0011804	Abnormal muscle physiology	9928	KIF14	OMIM:617914
HP:0011804	Abnormal muscle physiology	390594	KBTBD13	ORPHA:171439
HP:0011804	Abnormal muscle physiology	4703	NEB	ORPHA:171439
HP:0011804	Abnormal muscle physiology	10324	KLHL41	ORPHA:171439
HP:0011804	Abnormal muscle physiology	2146	EZH2	OMIM:277590
HP:0011804	Abnormal muscle physiology	5195	PEX14	OMIM:614887
HP:0011804	Abnormal muscle physiology	147007	TMEM199	OMIM:616829
HP:0011804	Abnormal muscle physiology	51322	WAC	OMIM:616708
HP:0011804	Abnormal muscle physiology	84317	CCDC115	OMIM:616828
HP:0011804	Abnormal muscle physiology	701	BUB1B	OMIM:257300
HP:0011804	Abnormal muscle physiology	54463	RETREG1	OMIM:201300
HP:0011804	Abnormal muscle physiology	65125	WNK1	OMIM:201300
HP:0011804	Abnormal muscle physiology	6335	SCN9A	OMIM:201300
HP:0011804	Abnormal muscle physiology	547	KIF1A	OMIM:201300
HP:0011804	Abnormal muscle physiology	547	KIF1A	OMIM:614255
HP:0011804	Abnormal muscle physiology	667	DST	OMIM:614653
HP:0011804	Abnormal muscle physiology	2033	EP300	OMIM:613684
HP:0011804	Abnormal muscle physiology	29072	SETD2	OMIM:616831
HP:0011804	Abnormal muscle physiology	57017	COQ9	OMIM:614654
HP:0011804	Abnormal muscle physiology	196528	ARID2	OMIM:617808
HP:0011804	Abnormal muscle physiology	1861	TOR1A	OMIM:128100
HP:0011804	Abnormal muscle physiology	1861	TOR1A	OMIM:618947
HP:0011804	Abnormal muscle physiology	56052	ALG1	OMIM:608540
HP:0011804	Abnormal muscle physiology	54704	PDP1	OMIM:608782
HP:0011804	Abnormal muscle physiology	10075	HUWE1	OMIM:309590
HP:0011804	Abnormal muscle physiology	6309	SC5D	OMIM:607330
HP:0011804	Abnormal muscle physiology	8518	ELP1	OMIM:223900
HP:0011804	Abnormal muscle physiology	274	BIN1	ORPHA:169186
HP:0011804	Abnormal muscle physiology	274	BIN1	ORPHA:169189
HP:0011804	Abnormal muscle physiology	5979	RET	OMIM:162300
HP:0011804	Abnormal muscle physiology	55906	ZC4H2	OMIM:301041
HP:0011804	Abnormal muscle physiology	55906	ZC4H2	OMIM:314580
HP:0011804	Abnormal muscle physiology	91949	COG7	OMIM:608779
HP:0011804	Abnormal muscle physiology	8243	SMC1A	OMIM:301044
HP:0011804	Abnormal muscle physiology	3033	HADH	OMIM:231530
HP:0011804	Abnormal muscle physiology	2632	GBE1	OMIM:232500
HP:0011804	Abnormal muscle physiology	7167	TPI1	OMIM:615512
HP:0011804	Abnormal muscle physiology	9698	PUM1	OMIM:617931
HP:0011804	Abnormal muscle physiology	29926	GMPPA	OMIM:615510
HP:0011804	Abnormal muscle physiology	2290	FOXG1	OMIM:613454
HP:0011804	Abnormal muscle physiology	80184	CEP290	OMIM:610188
HP:0011804	Abnormal muscle physiology	65062	TMEM237	OMIM:614424
HP:0011804	Abnormal muscle physiology	53616	ADAM22	OMIM:617933
HP:0011804	Abnormal muscle physiology	85358	SHANK3	OMIM:606232
HP:0011804	Abnormal muscle physiology	79796	ALG9	OMIM:608776
HP:0011804	Abnormal muscle physiology	23028	KDM1A	OMIM:616728
HP:0011804	Abnormal muscle physiology	27249	MMADHC	OMIM:277410
HP:0011804	Abnormal muscle physiology	26115	TANC2	OMIM:618906
HP:0011804	Abnormal muscle physiology	4618	MYF6	ORPHA:169189
HP:0011804	Abnormal muscle physiology	91147	TMEM67	OMIM:216360
HP:0011804	Abnormal muscle physiology	57465	TBC1D24	OMIM:220500
HP:0011804	Abnormal muscle physiology	5160	PDHA1	OMIM:312170
HP:0011804	Abnormal muscle physiology	84162	BLTP1	OMIM:617822
HP:0011804	Abnormal muscle physiology	473	RERE	OMIM:616975
HP:0011804	Abnormal muscle physiology	10229	COQ7	OMIM:616733
HP:0011804	Abnormal muscle physiology	23291	FBXW11	OMIM:618914
HP:0011804	Abnormal muscle physiology	4893	NRAS	OMIM:613224
HP:0011804	Abnormal muscle physiology	22880	MORC2	ORPHA:466768
HP:0011804	Abnormal muscle physiology	7280	TUBB2A	OMIM:615763
HP:0011804	Abnormal muscle physiology	998	CDC42	OMIM:616737
HP:0011804	Abnormal muscle physiology	10982	MAPRE2	OMIM:616734
HP:0011804	Abnormal muscle physiology	64221	ROBO3	OMIM:607313
HP:0011804	Abnormal muscle physiology	3778	KCNMA1	ORPHA:79137
HP:0011804	Abnormal muscle physiology	3778	KCNMA1	OMIM:617643
HP:0011804	Abnormal muscle physiology	84679	SLC9A7	OMIM:301024
HP:0011804	Abnormal muscle physiology	2895	GRID2	ORPHA:363432
HP:0011804	Abnormal muscle physiology	7874	USP7	OMIM:616863
HP:0011804	Abnormal muscle physiology	6709	SPTAN1	OMIM:613477
HP:0011804	Abnormal muscle physiology	91137	SLC25A46	OMIM:616505
HP:0011804	Abnormal muscle physiology	9378	NRXN1	OMIM:614325
HP:0011804	Abnormal muscle physiology	51008	ASCC1	OMIM:616867
HP:0011804	Abnormal muscle physiology	4594	MMUT	OMIM:251000
HP:0011804	Abnormal muscle physiology	10943	MSL3	OMIM:301032
HP:0011804	Abnormal muscle physiology	1105	CHD1	ORPHA:529965
HP:0011804	Abnormal muscle physiology	5147	PDE6D	OMIM:615665
HP:0011804	Abnormal muscle physiology	5147	PDE6D	ORPHA:2754
HP:0011804	Abnormal muscle physiology	57511	COG6	OMIM:614576
HP:0011804	Abnormal muscle physiology	23065	EMC1	OMIM:616875
HP:0011804	Abnormal muscle physiology	7421	VDR	OMIM:277440
HP:0011804	Abnormal muscle physiology	128637	TBC1D20	OMIM:615663
HP:0011804	Abnormal muscle physiology	175	AGA	OMIM:208400
HP:0011804	Abnormal muscle physiology	2475	MTOR	OMIM:616638
HP:0011804	Abnormal muscle physiology	128989	TANGO2	OMIM:616878
HP:0011804	Abnormal muscle physiology	57531	HACE1	OMIM:616756
HP:0011804	Abnormal muscle physiology	4644	MYO5A	ORPHA:79476
HP:0011804	Abnormal muscle physiology	326625	MMAB	OMIM:251110
HP:0011804	Abnormal muscle physiology	60	ACTB	OMIM:243310
HP:0011804	Abnormal muscle physiology	2464	FRA16E	OMIM:136570
HP:0011804	Abnormal muscle physiology	11019	LIAS	OMIM:614462
HP:0011804	Abnormal muscle physiology	1859	DYRK1A	OMIM:614104
HP:0011804	Abnormal muscle physiology	23443	SLC35A3	OMIM:615553
HP:0011804	Abnormal muscle physiology	95681	CEP41	OMIM:614464
HP:0011804	Abnormal muscle physiology	29957	SLC25A24	OMIM:612289
HP:0011804	Abnormal muscle physiology	64857	PLEKHG2	OMIM:616763
HP:0011804	Abnormal muscle physiology	51520	LARS1	OMIM:615438
HP:0011804	Abnormal muscle physiology	8936	WASF1	OMIM:618707
HP:0011804	Abnormal muscle physiology	10128	LRPPRC	ORPHA:70472
HP:0011804	Abnormal muscle physiology	23545	ATP6V0A2	OMIM:219200
HP:0011804	Abnormal muscle physiology	26503	SLC17A5	OMIM:604369
HP:0011804	Abnormal muscle physiology	26503	SLC17A5	OMIM:269920
HP:0011804	Abnormal muscle physiology	55617	TASP1	OMIM:618950
HP:0011804	Abnormal muscle physiology	200894	ARL13B	OMIM:612291
HP:0011804	Abnormal muscle physiology	5162	PDHB	OMIM:614111
HP:0011804	Abnormal muscle physiology	83737	ITCH	OMIM:613385
HP:0011804	Abnormal muscle physiology	92335	STRADA	OMIM:611087
HP:0011804	Abnormal muscle physiology	28957	MRPS28	OMIM:618958
HP:0011804	Abnormal muscle physiology	2670	GFAP	ORPHA:363717
HP:0011804	Abnormal muscle physiology	5500	PPP1CB	OMIM:617506
HP:0011804	Abnormal muscle physiology	5376	PMP22	ORPHA:98916
HP:0011804	Abnormal muscle physiology	9215	LARGE1	OMIM:608840
HP:0011804	Abnormal muscle physiology	9215	LARGE1	OMIM:613154
HP:0011804	Abnormal muscle physiology	617	BCS1L	OMIM:124000
HP:0011804	Abnormal muscle physiology	3756	KCNH1	ORPHA:420561
HP:0011804	Abnormal muscle physiology	139285	AMER1	OMIM:300373
HP:0011804	Abnormal muscle physiology	9897	WASHC5	OMIM:220210
HP:0011804	Abnormal muscle physiology	6497	SKI	OMIM:182212
HP:0011804	Abnormal muscle physiology	95	ACY1	OMIM:609924
HP:0011804	Abnormal muscle physiology	54802	TRIT1	OMIM:617873
HP:0011804	Abnormal muscle physiology	23247	KATNIP	OMIM:616784
HP:0011804	Abnormal muscle physiology	9731	CEP104	OMIM:616781
HP:0011804	Abnormal muscle physiology	51780	KDM3B	OMIM:618846
HP:0011804	Abnormal muscle physiology	5538	PPT1	OMIM:256730
HP:0011804	Abnormal muscle physiology	1663	DDX11	OMIM:613398
HP:0011804	Abnormal muscle physiology	29954	POMT2	OMIM:613156
HP:0011804	Abnormal muscle physiology	51317	PHF21A	OMIM:618725
HP:0011804	Abnormal muscle physiology	5455	POU3F3	OMIM:618604
HP:0011804	Abnormal muscle physiology	2186	BPTF	OMIM:617755
HP:0011804	Abnormal muscle physiology	738	VPS51	OMIM:618606
HP:0011804	Abnormal muscle physiology	84700	MYO18B	OMIM:616549
HP:0011804	Abnormal muscle physiology	23389	MED13L	OMIM:616789
HP:0011804	Abnormal muscle physiology	5430	POLR2A	OMIM:618603
HP:0011804	Abnormal muscle physiology	1585	CYP11B2	ORPHA:556030
HP:0011804	Abnormal muscle physiology	4848	CNOT2	OMIM:618608
HP:0011804	Abnormal muscle physiology	2639	GCDH	OMIM:231670
HP:0011804	Abnormal muscle physiology	10210	TOPORS	ORPHA:2754
HP:0011804	Abnormal muscle physiology	9851	KIAA0753	ORPHA:2754
HP:0011804	Abnormal muscle physiology	26123	TCTN3	ORPHA:2754
HP:0011804	Abnormal muscle physiology	51259	TMEM216	ORPHA:2754
HP:0011804	Abnormal muscle physiology	8481	OFD1	ORPHA:2754
HP:0011804	Abnormal muscle physiology	317662	FAM149B1	ORPHA:2754
HP:0011804	Abnormal muscle physiology	9469	CHST3	OMIM:245600
HP:0011804	Abnormal muscle physiology	26229	B3GAT3	OMIM:245600
HP:0011804	Abnormal muscle physiology	1468	SLC25A10	OMIM:618972
HP:0011804	Abnormal muscle physiology	1968	EIF2S3	OMIM:300148
HP:0011804	Abnormal muscle physiology	5087	PBX1	OMIM:617641
HP:0011804	Abnormal muscle physiology	115286	SLC25A26	OMIM:616794
HP:0011804	Abnormal muscle physiology	92935	MARS2	OMIM:616430
HP:0011804	Abnormal muscle physiology	6833	ABCC8	OMIM:618857
HP:0011804	Abnormal muscle physiology	8398	PLA2G6	OMIM:256600
HP:0011804	Abnormal muscle physiology	4858	NOVA2	OMIM:618859
HP:0011804	Abnormal muscle physiology	529	ATP6V1E1	OMIM:617402
HP:0011804	Abnormal muscle physiology	25871	NEPRO	OMIM:618853
HP:0011804	Abnormal muscle physiology	1460	CSNK2B	OMIM:618732
HP:0011804	Abnormal muscle physiology	4654	MYOD1	OMIM:618975
HP:0011804	Abnormal muscle physiology	22868	FASTKD2	OMIM:618855
HP:0011804	Abnormal muscle physiology	58508	KMT2C	OMIM:617768
HP:0011804	Abnormal muscle physiology	58499	ZNF462	OMIM:618619
HP:0011804	Abnormal muscle physiology	25974	MMACHC	OMIM:277400
HP:0011804	Abnormal muscle physiology	5052	PRDX1	OMIM:277400
HP:0011804	Abnormal muscle physiology	2582	GALE	OMIM:230350
HP:0011804	Abnormal muscle physiology	25970	SH2B1	ORPHA:261222
HP:0011804	Abnormal muscle physiology	5457	POU4F1	ORPHA:314647
HP:0011804	Abnormal muscle physiology	23261	CAMTA1	ORPHA:314647
HP:0011804	Abnormal muscle physiology	23261	CAMTA1	OMIM:614756
HP:0011804	Abnormal muscle physiology	51651	PTRH2	ORPHA:456312
HP:0011804	Abnormal muscle physiology	132158	GLYCTK	OMIM:220120
HP:0011804	Abnormal muscle physiology	84300	UQCC2	OMIM:615824
HP:0011804	Abnormal muscle physiology	51021	MRPS16	OMIM:610498
HP:0011804	Abnormal muscle physiology	2627	GATA6	ORPHA:2255
HP:0011804	Abnormal muscle physiology	375748	ERCC6L2	OMIM:615715
HP:0011804	Abnormal muscle physiology	54499	TMCO1	OMIM:213980
HP:0011804	Abnormal muscle physiology	4952	OCRL	OMIM:309000
HP:0011804	Abnormal muscle physiology	4952	OCRL	ORPHA:534
HP:0011804	Abnormal muscle physiology	285362	SUMF1	OMIM:272200
HP:0011804	Abnormal muscle physiology	285362	SUMF1	ORPHA:585
HP:0011804	Abnormal muscle physiology	8050	PDHX	OMIM:245349
HP:0011804	Abnormal muscle physiology	55670	PEX26	OMIM:614873
HP:0011804	Abnormal muscle physiology	5192	PEX10	OMIM:614871
HP:0011804	Abnormal muscle physiology	57492	ARID1B	ORPHA:251056
HP:0011804	Abnormal muscle physiology	51244	CCDC174	OMIM:616816
HP:0011804	Abnormal muscle physiology	11107	PRDM5	ORPHA:90354
HP:0011804	Abnormal muscle physiology	84627	ZNF469	ORPHA:90354
HP:0011804	Abnormal muscle physiology	54916	TMEM260	OMIM:617478
HP:0011804	Abnormal muscle physiology	55023	PHIP	ORPHA:589905
HP:0011804	Abnormal muscle physiology	6927	HNF1A	ORPHA:324575
HP:0011804	Abnormal muscle physiology	57107	PDSS2	OMIM:614652
HP:0011804	Abnormal muscle physiology	5813	PURA	OMIM:616158
HP:0011804	Abnormal muscle physiology	5813	PURA	ORPHA:314655
HP:0011804	Abnormal muscle physiology	6878	TAF6	OMIM:617126
HP:0011804	Abnormal muscle physiology	6857	SYT1	OMIM:618218
HP:0011804	Abnormal muscle physiology	57459	GATAD2B	OMIM:615074
HP:0011804	Abnormal muscle physiology	51807	TUBA8	ORPHA:250972
HP:0011804	Abnormal muscle physiology	5575	PRKAR1B	OMIM:619680
HP:0011804	Abnormal muscle physiology	7707	ZNF148	OMIM:617260
HP:0011804	Abnormal muscle physiology	388015	RTL1	ORPHA:254525
HP:0011804	Abnormal muscle physiology	8788	DLK1	ORPHA:254525
HP:0011804	Abnormal muscle physiology	55384	MEG3	ORPHA:254525
HP:0011804	Abnormal muscle physiology	6651	SON	OMIM:617140
HP:0011804	Abnormal muscle physiology	6492	SIM1	ORPHA:171829
HP:0011804	Abnormal muscle physiology	6492	SIM1	ORPHA:398079
HP:0011804	Abnormal muscle physiology	5934	RBL2	OMIM:619690
HP:0011804	Abnormal muscle physiology	388753	COA6	OMIM:616501
HP:0011804	Abnormal muscle physiology	4692	NDN	ORPHA:177910
HP:0011804	Abnormal muscle physiology	3172	HNF4A	ORPHA:263455
HP:0011804	Abnormal muscle physiology	5144	PDE4D	ORPHA:439822
HP:0011804	Abnormal muscle physiology	23040	MYT1L	OMIM:616521
HP:0011804	Abnormal muscle physiology	8087	FXR1	OMIM:618822
HP:0011804	Abnormal muscle physiology	8087	FXR1	OMIM:618823
HP:0011804	Abnormal muscle physiology	259232	NALCN	ORPHA:371364
HP:0011804	Abnormal muscle physiology	5293	PIK3CD	ORPHA:221139
HP:0011804	Abnormal muscle physiology	90417	KNSTRN	ORPHA:221139
HP:0011804	Abnormal muscle physiology	10283	CWC27	ORPHA:166035
HP:0011804	Abnormal muscle physiology	8567	MADD	OMIM:619004
HP:0011804	Abnormal muscle physiology	8567	MADD	OMIM:619005
HP:0011804	Abnormal muscle physiology	51124	IER3IP1	OMIM:614231
HP:0011804	Abnormal muscle physiology	55704	CCDC88A	OMIM:617507
HP:0011804	Abnormal muscle physiology	7284	TUFM	OMIM:610678
HP:0011804	Abnormal muscle physiology	5331	PLCB3	OMIM:618961
HP:0011804	Abnormal muscle physiology	340533	NEXMIF	ORPHA:85277
HP:0011804	Abnormal muscle physiology	1315	COPB1	OMIM:619255
HP:0011804	Abnormal muscle physiology	1984	EIF5A	OMIM:619376
HP:0011804	Abnormal muscle physiology	10274	STAG1	OMIM:617635
HP:0011804	Abnormal muscle physiology	2806	GOT2	OMIM:618721
HP:0011804	Abnormal muscle physiology	3295	HSD17B4	OMIM:261515
HP:0011804	Abnormal muscle physiology	7138	TNNT1	ORPHA:98902
HP:0011804	Abnormal muscle physiology	29928	TIMM22	OMIM:618851
HP:0011804	Abnormal muscle physiology	51733	UPB1	OMIM:613161
HP:0011804	Abnormal muscle physiology	7043	TGFB3	OMIM:615582
HP:0011804	Abnormal muscle physiology	57728	WDR19	OMIM:614378
HP:0011804	Abnormal muscle physiology	26191	PTPN22	ORPHA:397
HP:0011804	Abnormal muscle physiology	3106	HLA-B	ORPHA:397
HP:0011804	Abnormal muscle physiology	3106	HLA-B	ORPHA:3287
HP:0011804	Abnormal muscle physiology	3123	HLA-DRB1	ORPHA:397
HP:0011804	Abnormal muscle physiology	3123	HLA-DRB1	ORPHA:220393
HP:0011804	Abnormal muscle physiology	3123	HLA-DRB1	OMIM:126200
HP:0011804	Abnormal muscle physiology	8974	P4HA2	ORPHA:397
HP:0011804	Abnormal muscle physiology	57679	ALS2	ORPHA:247604
HP:0011804	Abnormal muscle physiology	57679	ALS2	OMIM:205100
HP:0011804	Abnormal muscle physiology	57679	ALS2	ORPHA:300605
HP:0011804	Abnormal muscle physiology	57679	ALS2	OMIM:607225
HP:0011804	Abnormal muscle physiology	11160	ERLIN2	ORPHA:247604
HP:0011804	Abnormal muscle physiology	51099	ABHD5	OMIM:275630
HP:0011804	Abnormal muscle physiology	3190	HNRNPK	ORPHA:453504
HP:0011804	Abnormal muscle physiology	3190	HNRNPK	ORPHA:352665
HP:0011804	Abnormal muscle physiology	5631	PRPS1	ORPHA:99014
HP:0011804	Abnormal muscle physiology	5631	PRPS1	ORPHA:1187
HP:0011804	Abnormal muscle physiology	4538	MT-ND4	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4538	MT-ND4	ORPHA:550
HP:0011804	Abnormal muscle physiology	4567	MT-TL1	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4567	MT-TL1	OMIM:545000
HP:0011804	Abnormal muscle physiology	4567	MT-TL1	ORPHA:225
HP:0011804	Abnormal muscle physiology	4567	MT-TL1	ORPHA:550
HP:0011804	Abnormal muscle physiology	4578	MT-TW	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4578	MT-TW	ORPHA:550
HP:0011804	Abnormal muscle physiology	4577	MT-TV	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4508	MT-ATP6	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4540	MT-ND5	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4540	MT-ND5	ORPHA:550
HP:0011804	Abnormal muscle physiology	4541	MT-ND6	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4541	MT-ND6	ORPHA:550
HP:0011804	Abnormal muscle physiology	4566	MT-TK	ORPHA:255210
HP:0011804	Abnormal muscle physiology	4566	MT-TK	OMIM:545000
HP:0011804	Abnormal muscle physiology	4566	MT-TK	ORPHA:225
HP:0011804	Abnormal muscle physiology	4566	MT-TK	ORPHA:1349
HP:0011804	Abnormal muscle physiology	79577	CDC73	ORPHA:143
HP:0011804	Abnormal muscle physiology	79577	CDC73	ORPHA:99880
HP:0011804	Abnormal muscle physiology	10528	NOP56	OMIM:614153
HP:0011804	Abnormal muscle physiology	1161	ERCC8	OMIM:216400
HP:0011804	Abnormal muscle physiology	3908	LAMA2	ORPHA:258
HP:0011804	Abnormal muscle physiology	3908	LAMA2	OMIM:607855
HP:0011804	Abnormal muscle physiology	23400	ATP13A2	ORPHA:314632
HP:0011804	Abnormal muscle physiology	6772	STAT1	OMIM:614162
HP:0011804	Abnormal muscle physiology	23321	TRIM2	OMIM:615490
HP:0011804	Abnormal muscle physiology	29940	DSE	ORPHA:2953
HP:0011804	Abnormal muscle physiology	2200	FBN1	ORPHA:2833
HP:0011804	Abnormal muscle physiology	2200	FBN1	OMIM:184900
HP:0011804	Abnormal muscle physiology	3423	IDS	ORPHA:217085
HP:0011804	Abnormal muscle physiology	9581	PREPL	OMIM:616224
HP:0011804	Abnormal muscle physiology	79184	BRCC3	ORPHA:280679
HP:0011804	Abnormal muscle physiology	2697	GJA1	ORPHA:2710
HP:0011804	Abnormal muscle physiology	84133	ZNRF3	ORPHA:1501
HP:0011804	Abnormal muscle physiology	7157	TP53	ORPHA:1501
HP:0011804	Abnormal muscle physiology	7157	TP53	ORPHA:96253
HP:0011804	Abnormal muscle physiology	5573	PRKAR1A	ORPHA:1501
HP:0011804	Abnormal muscle physiology	5573	PRKAR1A	ORPHA:520
HP:0011804	Abnormal muscle physiology	5573	PRKAR1A	ORPHA:1359
HP:0011804	Abnormal muscle physiology	1499	CTNNB1	ORPHA:1501
HP:0011804	Abnormal muscle physiology	1029	CDKN2A	ORPHA:1501
HP:0011804	Abnormal muscle physiology	7015	TERT	ORPHA:1501
HP:0011804	Abnormal muscle physiology	1130	LYST	ORPHA:167
HP:0011804	Abnormal muscle physiology	1130	LYST	OMIM:214500
HP:0011804	Abnormal muscle physiology	1289	COL5A1	ORPHA:287
HP:0011804	Abnormal muscle physiology	1290	COL5A2	ORPHA:287
HP:0011804	Abnormal muscle physiology	4524	MTHFR	OMIM:236250
HP:0011804	Abnormal muscle physiology	4558	MT-TF	OMIM:545000
HP:0011804	Abnormal muscle physiology	4558	MT-TF	ORPHA:550
HP:0011804	Abnormal muscle physiology	4571	MT-TP	OMIM:545000
HP:0011804	Abnormal muscle physiology	4565	MT-TI	OMIM:545000
HP:0011804	Abnormal muscle physiology	7386	UQCRFS1	OMIM:618775
HP:0011804	Abnormal muscle physiology	5442	POLRMT	OMIM:619743
HP:0011804	Abnormal muscle physiology	790955	UQCC3	OMIM:616111
HP:0011804	Abnormal muscle physiology	246243	RNASEH1	OMIM:616479
HP:0011804	Abnormal muscle physiology	54840	APTX	OMIM:208920
HP:0011804	Abnormal muscle physiology	5373	PMM2	OMIM:212065
HP:0011804	Abnormal muscle physiology	55621	TRMT1	OMIM:618302
HP:0011804	Abnormal muscle physiology	142680	SLC34A3	OMIM:241530
HP:0011804	Abnormal muscle physiology	2318	FLNC	OMIM:614065
HP:0011804	Abnormal muscle physiology	54902	TTC19	OMIM:615157
HP:0011804	Abnormal muscle physiology	1180	CLCN1	OMIM:255700
HP:0011804	Abnormal muscle physiology	1180	CLCN1	OMIM:160800
HP:0011804	Abnormal muscle physiology	4669	NAGLU	OMIM:616491
HP:0011804	Abnormal muscle physiology	83636	C19orf12	OMIM:615043
HP:0011804	Abnormal muscle physiology	50485	SMARCAL1	ORPHA:1830
HP:0011804	Abnormal muscle physiology	400916	CHCHD10	OMIM:615048
HP:0011804	Abnormal muscle physiology	487	ATP2A1	OMIM:601003
HP:0011804	Abnormal muscle physiology	5213	PFKM	ORPHA:371
HP:0011804	Abnormal muscle physiology	5213	PFKM	OMIM:232800
HP:0011804	Abnormal muscle physiology	339855	KY	OMIM:617114
HP:0011804	Abnormal muscle physiology	1758	DMP1	ORPHA:289176
HP:0011804	Abnormal muscle physiology	5167	ENPP1	ORPHA:289176
HP:0011804	Abnormal muscle physiology	654	BMP6	ORPHA:465508
HP:0011804	Abnormal muscle physiology	3077	HFE	ORPHA:465508
HP:0011804	Abnormal muscle physiology	2303	FOXC2	ORPHA:33001
HP:0011804	Abnormal muscle physiology	3339	HSPG2	OMIM:255800
HP:0011804	Abnormal muscle physiology	3339	HSPG2	ORPHA:800
HP:0011804	Abnormal muscle physiology	5837	PYGM	ORPHA:368
HP:0011804	Abnormal muscle physiology	5837	PYGM	OMIM:232600
HP:0011804	Abnormal muscle physiology	27247	NFU1	OMIM:605711
HP:0011804	Abnormal muscle physiology	10533	ATG7	OMIM:619422
HP:0011804	Abnormal muscle physiology	51117	COQ4	OMIM:616276
HP:0011804	Abnormal muscle physiology	10801	SEPTIN9	ORPHA:2901
HP:0011804	Abnormal muscle physiology	10801	SEPTIN9	OMIM:162100
HP:0011804	Abnormal muscle physiology	4001	LMNB1	ORPHA:99027
HP:0011804	Abnormal muscle physiology	6559	SLC12A3	ORPHA:358
HP:0011804	Abnormal muscle physiology	6559	SLC12A3	OMIM:263800
HP:0011804	Abnormal muscle physiology	10371	SEMA3A	ORPHA:478
HP:0011804	Abnormal muscle physiology	81848	SPRY4	ORPHA:478
HP:0011804	Abnormal muscle physiology	23767	FLRT3	ORPHA:478
HP:0011804	Abnormal muscle physiology	128674	PROKR2	ORPHA:478
HP:0011804	Abnormal muscle physiology	79625	NDNF	ORPHA:478
HP:0011804	Abnormal muscle physiology	389549	FEZF1	ORPHA:478
HP:0011804	Abnormal muscle physiology	1630	DCC	ORPHA:478
HP:0011804	Abnormal muscle physiology	3730	ANOS1	ORPHA:478
HP:0011804	Abnormal muscle physiology	54756	IL17RD	ORPHA:478
HP:0011804	Abnormal muscle physiology	6663	SOX10	ORPHA:478
HP:0011804	Abnormal muscle physiology	285025	CCDC141	ORPHA:478
HP:0011804	Abnormal muscle physiology	60675	PROK2	ORPHA:478
HP:0011804	Abnormal muscle physiology	55636	CHD7	ORPHA:478
HP:0011804	Abnormal muscle physiology	1848	DUSP6	ORPHA:478
HP:0011804	Abnormal muscle physiology	6870	TACR3	ORPHA:478
HP:0011804	Abnormal muscle physiology	55717	WDR11	ORPHA:478
HP:0011804	Abnormal muscle physiology	9394	HS6ST1	ORPHA:478
HP:0011804	Abnormal muscle physiology	8820	HESX1	ORPHA:478
HP:0011804	Abnormal muscle physiology	8822	FGF17	ORPHA:478
HP:0011804	Abnormal muscle physiology	64132	XYLT2	OMIM:605822
HP:0011804	Abnormal muscle physiology	2074	ERCC6	OMIM:133540
HP:0011804	Abnormal muscle physiology	4572	MT-TQ	ORPHA:550
HP:0011804	Abnormal muscle physiology	4512	MT-CO1	ORPHA:550
HP:0011804	Abnormal muscle physiology	4512	MT-CO1	ORPHA:99845
HP:0011804	Abnormal muscle physiology	4513	MT-CO2	ORPHA:550
HP:0011804	Abnormal muscle physiology	4514	MT-CO3	ORPHA:550
HP:0011804	Abnormal muscle physiology	4514	MT-CO3	ORPHA:99845
HP:0011804	Abnormal muscle physiology	4575	MT-TS2	ORPHA:550
HP:0011804	Abnormal muscle physiology	4564	MT-TH	ORPHA:550
HP:0011804	Abnormal muscle physiology	5351	PLOD1	OMIM:225400
HP:0011804	Abnormal muscle physiology	5351	PLOD1	ORPHA:1900
HP:0011804	Abnormal muscle physiology	79912	PYROXD1	OMIM:617258
HP:0011804	Abnormal muscle physiology	1756	DMD	OMIM:310200
HP:0011804	Abnormal muscle physiology	1756	DMD	ORPHA:98895
HP:0011804	Abnormal muscle physiology	1756	DMD	OMIM:300376
HP:0011804	Abnormal muscle physiology	221496	LEMD2	OMIM:619322
HP:0011804	Abnormal muscle physiology	137682	NDUFAF6	OMIM:618239
HP:0011804	Abnormal muscle physiology	137682	NDUFAF6	ORPHA:3337
HP:0011804	Abnormal muscle physiology	84892	POMGNT2	ORPHA:899
HP:0011804	Abnormal muscle physiology	148789	B3GALNT2	ORPHA:899
HP:0011804	Abnormal muscle physiology	1282	COL4A1	ORPHA:899
HP:0011804	Abnormal muscle physiology	10329	RXYLT1	ORPHA:899
HP:0011804	Abnormal muscle physiology	11041	B4GAT1	ORPHA:899
HP:0011804	Abnormal muscle physiology	1297	COL9A1	ORPHA:166002
HP:0011804	Abnormal muscle physiology	1298	COL9A2	ORPHA:166002
HP:0011804	Abnormal muscle physiology	1299	COL9A3	ORPHA:166002
HP:0011804	Abnormal muscle physiology	4763	NF1	OMIM:601321
HP:0011804	Abnormal muscle physiology	6904	TBCD	ORPHA:496641
HP:0011804	Abnormal muscle physiology	6904	TBCD	OMIM:617193
HP:0011804	Abnormal muscle physiology	84196	USP48	ORPHA:96253
HP:0011804	Abnormal muscle physiology	9101	USP8	ORPHA:96253
HP:0011804	Abnormal muscle physiology	64072	CDH23	ORPHA:96253
HP:0011804	Abnormal muscle physiology	2908	NR3C1	ORPHA:96253
HP:0011804	Abnormal muscle physiology	546	ATRX	ORPHA:96253
HP:0011804	Abnormal muscle physiology	4621	MYH3	OMIM:193700
HP:0011804	Abnormal muscle physiology	513	ATP5F1D	OMIM:618120
HP:0011804	Abnormal muscle physiology	112476	PRRT2	ORPHA:569
HP:0011804	Abnormal muscle physiology	6323	SCN1A	ORPHA:569
HP:0011804	Abnormal muscle physiology	212	ALAS2	ORPHA:75563
HP:0011804	Abnormal muscle physiology	2583	B4GALNT1	ORPHA:101006
HP:0011804	Abnormal muscle physiology	11340	EXOSC8	OMIM:616081
HP:0011804	Abnormal muscle physiology	11340	EXOSC8	ORPHA:2254
HP:0011804	Abnormal muscle physiology	37	ACADVL	OMIM:201475
HP:0011804	Abnormal muscle physiology	6424	SFRP4	OMIM:265900
HP:0011804	Abnormal muscle physiology	246329	STAC3	ORPHA:168572
HP:0011804	Abnormal muscle physiology	246329	STAC3	OMIM:255995
HP:0011804	Abnormal muscle physiology	7504	XK	OMIM:300842
HP:0011804	Abnormal muscle physiology	2628	GATM	OMIM:134600
HP:0011804	Abnormal muscle physiology	2628	GATM	ORPHA:3337
HP:0011804	Abnormal muscle physiology	23287	AGTPBP1	OMIM:618276
HP:0011804	Abnormal muscle physiology	23287	AGTPBP1	ORPHA:2254
HP:0011804	Abnormal muscle physiology	226	ALDOA	OMIM:611881
HP:0011804	Abnormal muscle physiology	226	ALDOA	ORPHA:57
HP:0011804	Abnormal muscle physiology	54800	KLHL24	OMIM:620236
HP:0011804	Abnormal muscle physiology	3145	HMBS	OMIM:176000
HP:0011804	Abnormal muscle physiology	26092	TOR1AIP1	OMIM:617072
HP:0011804	Abnormal muscle physiology	63899	NSUN3	OMIM:619012
HP:0011804	Abnormal muscle physiology	131118	DNAJC19	ORPHA:66634
HP:0011804	Abnormal muscle physiology	131118	DNAJC19	OMIM:610198
HP:0011804	Abnormal muscle physiology	60386	SLC25A19	OMIM:613710
HP:0011804	Abnormal muscle physiology	5236	PGM1	OMIM:614921
HP:0011804	Abnormal muscle physiology	8799	PEX11B	OMIM:614920
HP:0011804	Abnormal muscle physiology	1073	CFL2	OMIM:610687
HP:0011804	Abnormal muscle physiology	22800	RRAS2	ORPHA:648
HP:0011804	Abnormal muscle physiology	867	CBL	ORPHA:648
HP:0011804	Abnormal muscle physiology	8216	LZTR1	ORPHA:648
HP:0011804	Abnormal muscle physiology	6016	RIT1	ORPHA:648
HP:0011804	Abnormal muscle physiology	6237	RRAS	ORPHA:648
HP:0011804	Abnormal muscle physiology	5894	RAF1	ORPHA:648
HP:0011804	Abnormal muscle physiology	22808	MRAS	ORPHA:648
HP:0011804	Abnormal muscle physiology	3845	KRAS	ORPHA:648
HP:0011804	Abnormal muscle physiology	200734	SPRED2	ORPHA:648
HP:0011804	Abnormal muscle physiology	6654	SOS1	ORPHA:648
HP:0011804	Abnormal muscle physiology	6655	SOS2	ORPHA:648
HP:0011804	Abnormal muscle physiology	5781	PTPN11	ORPHA:648
HP:0011804	Abnormal muscle physiology	5922	RASA2	ORPHA:648
HP:0011804	Abnormal muscle physiology	4683	NBN	ORPHA:647
HP:0011804	Abnormal muscle physiology	6340	SCNN1G	ORPHA:526
HP:0011804	Abnormal muscle physiology	6338	SCNN1B	ORPHA:526
HP:0011804	Abnormal muscle physiology	6337	SCNN1A	ORPHA:526
HP:0011804	Abnormal muscle physiology	3593	IL12B	ORPHA:3287
HP:0011804	Abnormal muscle physiology	6945	MLX	ORPHA:3287
HP:0011804	Abnormal muscle physiology	4693	NDP	ORPHA:649
HP:0011804	Abnormal muscle physiology	5216	PFN1	OMIM:614808
HP:0011804	Abnormal muscle physiology	10079	ATP9A	OMIM:620242
HP:0011804	Abnormal muscle physiology	1181	CLCN2	ORPHA:404
HP:0011804	Abnormal muscle physiology	124093	CCDC78	OMIM:614807
HP:0011804	Abnormal muscle physiology	1584	CYP11B1	ORPHA:403
HP:0011804	Abnormal muscle physiology	54936	ADPRS	OMIM:618170
HP:0011804	Abnormal muscle physiology	6774	STAT3	ORPHA:520
HP:0011804	Abnormal muscle physiology	5371	PML	ORPHA:520
HP:0011804	Abnormal muscle physiology	5914	RARA	ORPHA:520
HP:0011804	Abnormal muscle physiology	359948	IRF2BP2	ORPHA:520
HP:0011804	Abnormal muscle physiology	81608	FIP1L1	ORPHA:520
HP:0011804	Abnormal muscle physiology	4869	NPM1	ORPHA:520
HP:0011804	Abnormal muscle physiology	64859	NABP1	ORPHA:520
HP:0011804	Abnormal muscle physiology	6777	STAT5B	ORPHA:520
HP:0011804	Abnormal muscle physiology	4926	NUMA1	ORPHA:520
HP:0011804	Abnormal muscle physiology	7704	ZBTB16	ORPHA:520
HP:0011804	Abnormal muscle physiology	79718	TBL1XR1	ORPHA:520
HP:0011804	Abnormal muscle physiology	899	CCNF	OMIM:619141
HP:0011804	Abnormal muscle physiology	57562	CEP126	ORPHA:65684
HP:0011804	Abnormal muscle physiology	5696	PSMB8	OMIM:256040
HP:0011804	Abnormal muscle physiology	51102	MECR	ORPHA:508093
HP:0011804	Abnormal muscle physiology	8838	CCN6	OMIM:208230
HP:0011804	Abnormal muscle physiology	8838	CCN6	ORPHA:1159
HP:0011804	Abnormal muscle physiology	7148	TNXB	ORPHA:230839
HP:0011804	Abnormal muscle physiology	5111	PCNA	OMIM:615919
HP:0011804	Abnormal muscle physiology	51816	ADA2	ORPHA:820
HP:0011804	Abnormal muscle physiology	57176	VARS2	OMIM:615917
HP:0011804	Abnormal muscle physiology	2038	EPB42	ORPHA:822
HP:0011804	Abnormal muscle physiology	6521	SLC4A1	ORPHA:822
HP:0011804	Abnormal muscle physiology	6521	SLC4A1	OMIM:179800
HP:0011804	Abnormal muscle physiology	6710	SPTB	ORPHA:822
HP:0011804	Abnormal muscle physiology	6708	SPTA1	ORPHA:822
HP:0011804	Abnormal muscle physiology	286	ANK1	ORPHA:822
HP:0011804	Abnormal muscle physiology	6840	SVIL	OMIM:619040
HP:0011804	Abnormal muscle physiology	9197	SLC33A1	OMIM:612539
HP:0011804	Abnormal muscle physiology	7125	TNNC2	OMIM:620161
HP:0011804	Abnormal muscle physiology	1272	CNTN1	OMIM:612540
HP:0011804	Abnormal muscle physiology	55858	TMEM165	OMIM:614727
HP:0011804	Abnormal muscle physiology	114034	TOE1	OMIM:614969
HP:0011804	Abnormal muscle physiology	29967	LRP12	OMIM:164310
HP:0011804	Abnormal muscle physiology	9570	GOSR2	OMIM:620166
HP:0011804	Abnormal muscle physiology	2332	FMR1	ORPHA:93256
HP:0011804	Abnormal muscle physiology	7276	TTR	OMIM:105210
HP:0011804	Abnormal muscle physiology	7274	TTPA	ORPHA:96
HP:0011804	Abnormal muscle physiology	6687	SPG7	OMIM:607259
HP:0011804	Abnormal muscle physiology	26278	SACS	ORPHA:98
HP:0011804	Abnormal muscle physiology	1175	AP2S1	OMIM:600740
HP:0011804	Abnormal muscle physiology	54805	CNNM2	OMIM:613882
HP:0011804	Abnormal muscle physiology	55157	DARS2	OMIM:611105
HP:0011804	Abnormal muscle physiology	5230	PGK1	ORPHA:713
HP:0011804	Abnormal muscle physiology	5230	PGK1	OMIM:300653
HP:0011804	Abnormal muscle physiology	374393	FAM111B	OMIM:615704
HP:0011804	Abnormal muscle physiology	113278	SLC52A3	OMIM:211530
HP:0011804	Abnormal muscle physiology	2395	FXN	ORPHA:95
HP:0011804	Abnormal muscle physiology	10558	SPTLC1	ORPHA:36386
HP:0011804	Abnormal muscle physiology	10558	SPTLC1	ORPHA:300605
HP:0011804	Abnormal muscle physiology	25923	ATL3	ORPHA:36386
HP:0011804	Abnormal muscle physiology	9517	SPTLC2	ORPHA:36386
HP:0011804	Abnormal muscle physiology	51062	ATL1	ORPHA:36386
HP:0011804	Abnormal muscle physiology	3475	IFRD1	ORPHA:98771
HP:0011804	Abnormal muscle physiology	8074	FGF23	ORPHA:89937
HP:0011804	Abnormal muscle physiology	149371	EXOC8	OMIM:619076
HP:0011804	Abnormal muscle physiology	7443	VRK1	ORPHA:2254
HP:0011804	Abnormal muscle physiology	7443	VRK1	OMIM:607596
HP:0011804	Abnormal muscle physiology	9990	SLC12A6	OMIM:620068
HP:0011804	Abnormal muscle physiology	6609	SMPD1	OMIM:257200
HP:0011804	Abnormal muscle physiology	283209	PGM2L1	OMIM:620191
HP:0011804	Abnormal muscle physiology	23175	LPIN1	OMIM:268200
HP:0011804	Abnormal muscle physiology	23175	LPIN1	ORPHA:99845
HP:0011804	Abnormal muscle physiology	728294	D2HGDH	OMIM:600721
HP:0011804	Abnormal muscle physiology	2521	FUS	ORPHA:300605
HP:0011804	Abnormal muscle physiology	80208	SPG11	ORPHA:300605
HP:0011804	Abnormal muscle physiology	10280	SIGMAR1	ORPHA:300605
HP:0011804	Abnormal muscle physiology	6598	SMARCB1	ORPHA:99966
HP:0011804	Abnormal muscle physiology	3662	IRF4	ORPHA:3452
HP:0011804	Abnormal muscle physiology	5191	PEX7	OMIM:614879
HP:0011804	Abnormal muscle physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0011804	Abnormal muscle physiology	1962	EHHADH	ORPHA:3337
HP:0011804	Abnormal muscle physiology	6569	SLC34A1	ORPHA:3337
HP:0011804	Abnormal muscle physiology	5194	PEX13	OMIM:614885
HP:0011804	Abnormal muscle physiology	10133	OPTN	OMIM:613435
HP:0011804	Abnormal muscle physiology	91574	MTRFR	OMIM:613559
HP:0011804	Abnormal muscle physiology	55679	LIMS2	OMIM:616827
HP:0011804	Abnormal muscle physiology	710	SERPING1	OMIM:106100
HP:0011804	Abnormal muscle physiology	23479	ISCU	OMIM:255125
HP:0011804	Abnormal muscle physiology	6314	ATXN7	ORPHA:94147
HP:0011804	Abnormal muscle physiology	84188	FAR1	ORPHA:447753
HP:0011804	Abnormal muscle physiology	5832	ALDH18A1	ORPHA:447753
HP:0011804	Abnormal muscle physiology	5832	ALDH18A1	ORPHA:447760
HP:0011804	Abnormal muscle physiology	3991	LIPE	OMIM:615980
HP:0011804	Abnormal muscle physiology	23503	ZFYVE26	ORPHA:100996
HP:0011804	Abnormal muscle physiology	51067	YARS2	OMIM:613561
HP:0011804	Abnormal muscle physiology	3897	L1CAM	ORPHA:1497
HP:0011804	Abnormal muscle physiology	284119	CAVIN1	OMIM:613327
HP:0011804	Abnormal muscle physiology	132	ADK	OMIM:614300
HP:0011804	Abnormal muscle physiology	6948	TCN2	OMIM:275350
HP:0011804	Abnormal muscle physiology	6775	STAT4	ORPHA:93552
HP:0011804	Abnormal muscle physiology	6696	SPP1	ORPHA:93552
HP:0011804	Abnormal muscle physiology	3654	IRAK1	ORPHA:93552
HP:0011804	Abnormal muscle physiology	57505	AARS2	OMIM:615889
HP:0011804	Abnormal muscle physiology	7200	TRH	OMIM:275120
HP:0011804	Abnormal muscle physiology	6301	SARS1	OMIM:617709
HP:0011804	Abnormal muscle physiology	54822	TRPM7	OMIM:105500
HP:0011804	Abnormal muscle physiology	3767	KCNJ11	ORPHA:79134
HP:0011804	Abnormal muscle physiology	3767	KCNJ11	ORPHA:276580
HP:0011804	Abnormal muscle physiology	50940	PDE11A	ORPHA:1359
HP:0011804	Abnormal muscle physiology	2821	GPI	OMIM:613470
HP:0011804	Abnormal muscle physiology	79572	ATP13A3	OMIM:265400
HP:0011804	Abnormal muscle physiology	7849	PAX8	ORPHA:95713
HP:0011804	Abnormal muscle physiology	7849	PAX8	ORPHA:95712
HP:0011804	Abnormal muscle physiology	1482	NKX2-5	ORPHA:95713
HP:0011804	Abnormal muscle physiology	1482	NKX2-5	ORPHA:95712
HP:0011804	Abnormal muscle physiology	2304	FOXE1	ORPHA:95713
HP:0011804	Abnormal muscle physiology	7253	TSHR	ORPHA:95713
HP:0011804	Abnormal muscle physiology	5172	SLC26A4	ORPHA:95713
HP:0011804	Abnormal muscle physiology	10616	RBCK1	OMIM:615895
HP:0011804	Abnormal muscle physiology	10342	TFG	OMIM:615658
HP:0011804	Abnormal muscle physiology	27315	PGAP2	OMIM:614207
HP:0011804	Abnormal muscle physiology	6678	SPARC	OMIM:616507
HP:0011804	Abnormal muscle physiology	20	ABCA2	OMIM:618808
HP:0011804	Abnormal muscle physiology	9056	SLC7A7	OMIM:222700
HP:0011804	Abnormal muscle physiology	4982	TNFRSF11B	OMIM:239000
HP:0011804	Abnormal muscle physiology	3181	HNRNPA2B1	OMIM:615422
HP:0011804	Abnormal muscle physiology	11280	SCN11A	OMIM:615548
HP:0011804	Abnormal muscle physiology	57817	HAMP	ORPHA:79230
HP:0011804	Abnormal muscle physiology	148738	HJV	ORPHA:79230
HP:0011804	Abnormal muscle physiology	5498	PPOX	ORPHA:79473
HP:0011804	Abnormal muscle physiology	6197	RPS6KA3	ORPHA:192
HP:0011804	Abnormal muscle physiology	2517	FUCA1	OMIM:230000
HP:0011804	Abnormal muscle physiology	203228	C9orf72	OMIM:105550
HP:0011804	Abnormal muscle physiology	6697	SPR	ORPHA:70594
HP:0011804	Abnormal muscle physiology	9997	SCO2	ORPHA:70474
HP:0011804	Abnormal muscle physiology	6182	MRPL12	OMIM:618951
HP:0011804	Abnormal muscle physiology	122553	TRAPPC6B	OMIM:617862
HP:0011804	Abnormal muscle physiology	4780	NFE2L2	OMIM:617744
HP:0011804	Abnormal muscle physiology	57570	TRMT5	OMIM:616539
HP:0011804	Abnormal muscle physiology	54676	GTPBP2	OMIM:617988
HP:0011804	Abnormal muscle physiology	2645	GCK	ORPHA:79299
HP:0011804	Abnormal muscle physiology	4038	LRP4	ORPHA:98913
HP:0011804	Abnormal muscle physiology	4038	LRP4	OMIM:616304
HP:0011804	Abnormal muscle physiology	5913	RAPSN	ORPHA:98913
HP:0011804	Abnormal muscle physiology	221264	AK9	ORPHA:98913
HP:0011804	Abnormal muscle physiology	84628	NTNG2	OMIM:618718
HP:0011804	Abnormal muscle physiology	210	ALAD	ORPHA:100924
HP:0011804	Abnormal muscle physiology	3920	LAMP2	OMIM:300257
HP:0011804	Abnormal muscle physiology	178	AGL	OMIM:232400
HP:0011804	Abnormal muscle physiology	22943	DKK1	ORPHA:268882
HP:0011804	Abnormal muscle physiology	23435	TARDBP	OMIM:612069
HP:0011804	Abnormal muscle physiology	23533	PIK3R5	OMIM:615217
HP:0011804	Abnormal muscle physiology	8086	AAAS	OMIM:231550
HP:0011804	Abnormal muscle physiology	9451	EIF2AK3	ORPHA:1667
HP:0011804	Abnormal muscle physiology	101929726	MYMX	OMIM:619941
HP:0011804	Abnormal muscle physiology	29110	TBK1	OMIM:616439
HP:0011804	Abnormal muscle physiology	1235	CCR6	ORPHA:220393
HP:0011804	Abnormal muscle physiology	1490	CCN2	ORPHA:220393
HP:0011804	Abnormal muscle physiology	3663	IRF5	ORPHA:220393
HP:0011804	Abnormal muscle physiology	857	CAV1	ORPHA:220393
HP:0011804	Abnormal muscle physiology	131377	KLHL40	OMIM:615348
HP:0011804	Abnormal muscle physiology	8878	SQSTM1	OMIM:616437
HP:0011804	Abnormal muscle physiology	6647	SOD1	OMIM:105400
HP:0011804	Abnormal muscle physiology	5630	PRPH	OMIM:105400
HP:0011804	Abnormal muscle physiology	1639	DCTN1	OMIM:105400
HP:0011804	Abnormal muscle physiology	4744	NEFH	OMIM:105400
HP:0011804	Abnormal muscle physiology	2108	ETFA	OMIM:231680
HP:0011804	Abnormal muscle physiology	2109	ETFB	OMIM:231680
HP:0011804	Abnormal muscle physiology	2110	ETFDH	OMIM:231680
HP:0011804	Abnormal muscle physiology	3119	HLA-DQB1	OMIM:126200
HP:0011804	Abnormal muscle physiology	5133	PDCD1	OMIM:126200
HP:0011804	Abnormal muscle physiology	823	CAPN1	OMIM:616907
HP:0011804	Abnormal muscle physiology	823	CAPN1	ORPHA:488594
HP:0011804	Abnormal muscle physiology	27286	SRPX2	ORPHA:98889
HP:0011804	Abnormal muscle physiology	1615	DARS1	OMIM:615281
HP:0011804	Abnormal muscle physiology	200403	VWA3B	OMIM:616948
HP:0011804	Abnormal muscle physiology	84274	COQ5	OMIM:619028
HP:0011804	Abnormal muscle physiology	6515	SLC2A3	ORPHA:399
HP:0011804	Abnormal muscle physiology	7384	UQCRC1	OMIM:619279
HP:0011804	Abnormal muscle physiology	4016	LOXL1	OMIM:177650
HP:0011804	Abnormal muscle physiology	1436	CSF1R	OMIM:618476
HP:0011804	Abnormal muscle physiology	1436	CSF1R	OMIM:221820
HP:0011804	Abnormal muscle physiology	80347	COASY	OMIM:615643
HP:0011804	Abnormal muscle physiology	10501	SEMA6B	OMIM:618876
HP:0011804	Abnormal muscle physiology	11152	WDR45	ORPHA:329284
HP:0011804	Abnormal muscle physiology	11152	WDR45	OMIM:300894
HP:0011804	Abnormal muscle physiology	7343	UBTF	OMIM:617672
HP:0011804	Abnormal muscle physiology	55037	PTCD3	OMIM:619057
HP:0011804	Abnormal muscle physiology	8622	PDE8B	OMIM:609161
HP:0011804	Abnormal muscle physiology	8622	PDE8B	ORPHA:228169
HP:0011804	Abnormal muscle physiology	6575	SLC20A2	OMIM:213600
HP:0011804	Abnormal muscle physiology	5159	PDGFRB	OMIM:213600
HP:0011804	Abnormal muscle physiology	1509	CTSD	OMIM:610127
HP:0011804	Abnormal muscle physiology	80821	DDHD1	ORPHA:101008
HP:0011804	Abnormal muscle physiology	6908	TBP	OMIM:607136
HP:0011804	Abnormal muscle physiology	6908	TBP	ORPHA:98759
HP:0011804	Abnormal muscle physiology	6908	TBP	OMIM:168600
HP:0011804	Abnormal muscle physiology	25953	PNKD	ORPHA:98810
HP:0011804	Abnormal muscle physiology	5654	HTRA1	ORPHA:199354
HP:0011804	Abnormal muscle physiology	5654	HTRA1	OMIM:600142
HP:0011804	Abnormal muscle physiology	26154	ABCA12	OMIM:242500
HP:0011804	Abnormal muscle physiology	2512	FTL	OMIM:606159
HP:0011804	Abnormal muscle physiology	3615	IMPDH2	ORPHA:98808
HP:0011804	Abnormal muscle physiology	10273	STUB1	ORPHA:412057
HP:0011804	Abnormal muscle physiology	25793	FBXO7	ORPHA:171695
HP:0011804	Abnormal muscle physiology	25793	FBXO7	OMIM:260300
HP:0011804	Abnormal muscle physiology	51142	CHCHD2	OMIM:616710
HP:0011804	Abnormal muscle physiology	2747	GLUD2	OMIM:168600
HP:0011804	Abnormal muscle physiology	126	ADH1C	OMIM:168600
HP:0011804	Abnormal muscle physiology	9627	SNCAIP	OMIM:168600
HP:0011804	Abnormal muscle physiology	123606	NIPA1	OMIM:600363
HP:0011804	Abnormal muscle physiology	118813	ZFYVE27	OMIM:610244
HP:0011804	Abnormal muscle physiology	25778	DSTYK	ORPHA:101003
HP:0011804	Abnormal muscle physiology	57599	WDR48	ORPHA:401800
HP:0011804	Abnormal muscle physiology	10613	ERLIN1	ORPHA:401785
HP:0011804	Abnormal muscle physiology	10613	ERLIN1	OMIM:615681
HP:0011804	Abnormal muscle physiology	22978	NT5C2	ORPHA:320396
HP:0011804	Abnormal muscle physiology	22978	NT5C2	OMIM:613162
HP:0011804	Abnormal muscle physiology	6472	SHMT2	OMIM:619121
HP:0011804	Abnormal muscle physiology	113612	CYP2U1	ORPHA:320411
HP:0011804	Abnormal muscle physiology	129685	TAF8	OMIM:619972
HP:0011804	Abnormal muscle physiology	25792	CIZ1	ORPHA:420492
HP:0011804	Abnormal muscle physiology	84138	SLC7A6OS	OMIM:619191
HP:0011804	Abnormal muscle physiology	146057	TTBK2	ORPHA:98767
HP:0011804	Abnormal muscle physiology	2259	FGF14	ORPHA:98764
HP:0011804	Abnormal muscle physiology	23204	ARL6IP1	ORPHA:401780
HP:0011804	Abnormal muscle physiology	4883	NPR3	OMIM:619543
HP:0011804	Abnormal muscle physiology	4148	MATN3	ORPHA:93311
HP:0011804	Abnormal muscle physiology	3208	HPCA	ORPHA:99657
HP:0011804	Abnormal muscle physiology	518	ATP5MC3	OMIM:619681
HP:0011804	Abnormal muscle physiology	26175	LYSET	OMIM:619345
HP:0011804	Abnormal muscle physiology	2799	GNS	OMIM:252940
HP:0011804	Abnormal muscle physiology	1200	TPP1	ORPHA:284324
HP:0011804	Abnormal muscle physiology	5317	PKP1	ORPHA:158668
HP:0011804	Abnormal muscle physiology	10299	MARCHF6	OMIM:613608
HP:0011804	Abnormal muscle physiology	10749	KIF1C	ORPHA:397946
HP:0011804	Abnormal muscle physiology	10749	KIF1C	OMIM:611302
HP:0011804	Abnormal muscle physiology	55187	VPS13D	OMIM:607317
HP:0011804	Abnormal muscle physiology	318	NUDT2	OMIM:619844
HP:0011804	Abnormal muscle physiology	116228	COX20	OMIM:619054
HP:0011804	Abnormal muscle physiology	54834	GDAP2	OMIM:618369
HP:0011804	Abnormal muscle physiology	23317	DNAJC13	ORPHA:411602
HP:0011804	Abnormal muscle physiology	1981	EIF4G1	ORPHA:411602
HP:0011804	Abnormal muscle physiology	55737	VPS35	ORPHA:411602
HP:0011804	Abnormal muscle physiology	120892	LRRK2	ORPHA:411602
HP:0011804	Abnormal muscle physiology	26058	GIGYF2	ORPHA:411602
HP:0011804	Abnormal muscle physiology	6622	SNCA	ORPHA:411602
HP:0011804	Abnormal muscle physiology	55149	MTPAP	ORPHA:254343
HP:0011804	Abnormal muscle physiology	55703	POLR3B	OMIM:619742
HP:0011804	Abnormal muscle physiology	27235	COQ2	ORPHA:98933
HP:0011804	Abnormal muscle physiology	27235	COQ2	ORPHA:227510
HP:0011804	Abnormal muscle physiology	56006	SMG9	OMIM:619995
HP:0011804	Abnormal muscle physiology	10846	PDE10A	ORPHA:494526
HP:0011804	Abnormal muscle physiology	10846	PDE10A	OMIM:616921
HP:0011804	Abnormal muscle physiology	55280	CWF19L1	OMIM:616127
HP:0011804	Abnormal muscle physiology	55280	CWF19L1	ORPHA:453521
HP:0011804	Abnormal muscle physiology	6442	SGCA	ORPHA:62
HP:0011804	Abnormal muscle physiology	11261	CHP1	OMIM:618438
HP:0011804	Abnormal muscle physiology	80025	PANK2	ORPHA:216873
HP:0011804	Abnormal muscle physiology	80025	PANK2	ORPHA:216866
HP:0011804	Abnormal muscle physiology	84823	LMNB2	OMIM:616540
HP:0011804	Abnormal muscle physiology	383	ARG1	OMIM:207800
HP:0011804	Abnormal muscle physiology	9181	ARHGEF2	OMIM:617523
HP:0011804	Abnormal muscle physiology	8996	NOL3	OMIM:614937
HP:0011804	Abnormal muscle physiology	3752	KCND3	ORPHA:98772
HP:0011804	Abnormal muscle physiology	3752	KCND3	OMIM:607346
HP:0011804	Abnormal muscle physiology	4311	MME	ORPHA:497764
HP:0011804	Abnormal muscle physiology	10159	ATP6AP2	OMIM:300911
HP:0011804	Abnormal muscle physiology	10159	ATP6AP2	ORPHA:363654
HP:0011804	Abnormal muscle physiology	1600	DAB1	ORPHA:363710
HP:0011804	Abnormal muscle physiology	3739	KCNA4	OMIM:618284
HP:0011804	Abnormal muscle physiology	23732	FRRS1L	OMIM:616981
HP:0011804	Abnormal muscle physiology	116442	RAB39B	ORPHA:2379
HP:0011804	Abnormal muscle physiology	116442	RAB39B	OMIM:311510
HP:0011804	Abnormal muscle physiology	1356	CP	OMIM:604290
HP:0011804	Abnormal muscle physiology	6531	SLC6A3	OMIM:613135
HP:0011804	Abnormal muscle physiology	3781	KCNN2	OMIM:619725
HP:0011804	Abnormal muscle physiology	339453	TMEM240	OMIM:607454
HP:0011804	Abnormal muscle physiology	2554	GABRA1	ORPHA:33069
HP:0011804	Abnormal muscle physiology	57526	PCDH19	ORPHA:33069
HP:0011804	Abnormal muscle physiology	80704	SLC19A3	OMIM:607483
HP:0011804	Abnormal muscle physiology	4702	NDUFA8	OMIM:619272
HP:0011804	Abnormal muscle physiology	57190	SELENON	ORPHA:324604
HP:0011804	Abnormal muscle physiology	57190	SELENON	ORPHA:97244
HP:0011804	Abnormal muscle physiology	57190	SELENON	OMIM:602771
HP:0011804	Abnormal muscle physiology	57190	SELENON	ORPHA:2020
HP:0011804	Abnormal muscle physiology	4625	MYH7	ORPHA:324604
HP:0011804	Abnormal muscle physiology	7273	TTN	ORPHA:324604
HP:0011804	Abnormal muscle physiology	4359	MPZ	OMIM:618184
HP:0011804	Abnormal muscle physiology	58	ACTA1	ORPHA:97244
HP:0011804	Abnormal muscle physiology	58	ACTA1	ORPHA:2020
HP:0011804	Abnormal muscle physiology	54539	NDUFB11	ORPHA:2609
HP:0011804	Abnormal muscle physiology	25915	NDUFAF3	ORPHA:2609
HP:0011804	Abnormal muscle physiology	51103	NDUFAF1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	91942	NDUFAF2	ORPHA:2609
HP:0011804	Abnormal muscle physiology	51300	TIMMDC1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4716	NDUFB10	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4723	NDUFV1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	55572	FOXRED1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	284184	NDUFAF8	ORPHA:2609
HP:0011804	Abnormal muscle physiology	55863	TMEM126B	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4535	MT-ND1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4537	MT-ND3	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4729	NDUFV2	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4694	NDUFA1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4720	NDUFS2	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4724	NDUFS4	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4724	NDUFS4	OMIM:252010
HP:0011804	Abnormal muscle physiology	4726	NDUFS6	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4728	NDUFS8	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4722	NDUFS3	ORPHA:2609
HP:0011804	Abnormal muscle physiology	79133	NDUFAF5	ORPHA:2609
HP:0011804	Abnormal muscle physiology	126328	NDUFA11	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4709	NDUFB3	ORPHA:2609
HP:0011804	Abnormal muscle physiology	80224	NUBPL	ORPHA:2609
HP:0011804	Abnormal muscle physiology	29078	NDUFAF4	ORPHA:2609
HP:0011804	Abnormal muscle physiology	374291	NDUFS7	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4700	NDUFA6	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4536	MT-ND2	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4719	NDUFS1	ORPHA:2609
HP:0011804	Abnormal muscle physiology	4715	NDUFB9	ORPHA:2609
HP:0011804	Abnormal muscle physiology	29925	GMPPB	OMIM:615350
HP:0011804	Abnormal muscle physiology	29925	GMPPB	OMIM:615351
HP:0011804	Abnormal muscle physiology	29925	GMPPB	ORPHA:353327
HP:0011804	Abnormal muscle physiology	2775	GNAO1	OMIM:617493
HP:0011804	Abnormal muscle physiology	2775	GNAO1	ORPHA:1934
HP:0011804	Abnormal muscle physiology	57128	LYRM4	OMIM:615595
HP:0011804	Abnormal muscle physiology	1144	CHRND	OMIM:616321
HP:0011804	Abnormal muscle physiology	5393	EXOSC9	OMIM:618065
HP:0011804	Abnormal muscle physiology	64116	SLC39A8	OMIM:616721
HP:0011804	Abnormal muscle physiology	64116	SLC39A8	ORPHA:468699
HP:0011804	Abnormal muscle physiology	1305	COL13A1	OMIM:616720
HP:0011804	Abnormal muscle physiology	1305	COL13A1	ORPHA:98914
HP:0011804	Abnormal muscle physiology	23394	ADNP	OMIM:615873
HP:0011804	Abnormal muscle physiology	8818	DPM2	ORPHA:329178
HP:0011804	Abnormal muscle physiology	781	CACNA2D1	OMIM:620149
HP:0011804	Abnormal muscle physiology	781	CACNA2D1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	56623	INPP5E	OMIM:213300
HP:0011804	Abnormal muscle physiology	6571	SLC18A2	ORPHA:352649
HP:0011804	Abnormal muscle physiology	6571	SLC18A2	OMIM:618049
HP:0011804	Abnormal muscle physiology	170302	ARX	OMIM:308350
HP:0011804	Abnormal muscle physiology	170302	ARX	ORPHA:1934
HP:0011804	Abnormal muscle physiology	1605	DAG1	ORPHA:370997
HP:0011804	Abnormal muscle physiology	1605	DAG1	OMIM:616538
HP:0011804	Abnormal muscle physiology	3073	HEXA	OMIM:272800
HP:0011804	Abnormal muscle physiology	57165	GJC2	OMIM:608804
HP:0011804	Abnormal muscle physiology	55610	VPS50	OMIM:619685
HP:0011804	Abnormal muscle physiology	11277	TREX1	OMIM:225750
HP:0011804	Abnormal muscle physiology	10978	CLP1	ORPHA:411493
HP:0011804	Abnormal muscle physiology	10659	CELF2	OMIM:619561
HP:0011804	Abnormal muscle physiology	10659	CELF2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	51506	UFC1	OMIM:618076
HP:0011804	Abnormal muscle physiology	63895	PIEZO2	OMIM:617146
HP:0011804	Abnormal muscle physiology	9342	SNAP29	ORPHA:66631
HP:0011804	Abnormal muscle physiology	9342	SNAP29	OMIM:609528
HP:0011804	Abnormal muscle physiology	5917	RARS1	ORPHA:438114
HP:0011804	Abnormal muscle physiology	5917	RARS1	OMIM:616140
HP:0011804	Abnormal muscle physiology	443	ASPA	ORPHA:314918
HP:0011804	Abnormal muscle physiology	443	ASPA	ORPHA:314911
HP:0011804	Abnormal muscle physiology	84466	MEGF10	OMIM:614399
HP:0011804	Abnormal muscle physiology	84197	POMK	OMIM:615249
HP:0011804	Abnormal muscle physiology	3097	HIVEP2	OMIM:616977
HP:0011804	Abnormal muscle physiology	51010	EXOSC3	OMIM:614678
HP:0011804	Abnormal muscle physiology	55033	FKBP14	OMIM:614557
HP:0011804	Abnormal muscle physiology	55033	FKBP14	ORPHA:300179
HP:0011804	Abnormal muscle physiology	55768	NGLY1	ORPHA:404454
HP:0011804	Abnormal muscle physiology	54820	NDE1	OMIM:605013
HP:0011804	Abnormal muscle physiology	79158	GNPTAB	OMIM:252500
HP:0011804	Abnormal muscle physiology	2673	GFPT1	ORPHA:353327
HP:0011804	Abnormal muscle physiology	1798	DPAGT1	ORPHA:353327
HP:0011804	Abnormal muscle physiology	85365	ALG2	ORPHA:353327
HP:0011804	Abnormal muscle physiology	199857	ALG14	ORPHA:353327
HP:0011804	Abnormal muscle physiology	87178	PNPT1	ORPHA:319514
HP:0011804	Abnormal muscle physiology	87178	PNPT1	OMIM:614932
HP:0011804	Abnormal muscle physiology	55250	ELP2	OMIM:617270
HP:0011804	Abnormal muscle physiology	79868	ALG13	ORPHA:324422
HP:0011804	Abnormal muscle physiology	84340	GFM2	ORPHA:565624
HP:0011804	Abnormal muscle physiology	112939	NACC1	OMIM:617393
HP:0011804	Abnormal muscle physiology	100131801	PET100	OMIM:619055
HP:0011804	Abnormal muscle physiology	8913	CACNA1G	OMIM:618087
HP:0011804	Abnormal muscle physiology	84665	MYPN	ORPHA:171881
HP:0011804	Abnormal muscle physiology	7169	TPM2	ORPHA:171881
HP:0011804	Abnormal muscle physiology	7169	TPM2	ORPHA:2020
HP:0011804	Abnormal muscle physiology	7170	TPM3	ORPHA:171881
HP:0011804	Abnormal muscle physiology	7170	TPM3	ORPHA:2020
HP:0011804	Abnormal muscle physiology	4705	NDUFA10	OMIM:618243
HP:0011804	Abnormal muscle physiology	9512	PMPCB	OMIM:617954
HP:0011804	Abnormal muscle physiology	816	CAMK2B	OMIM:617799
HP:0011804	Abnormal muscle physiology	191	AHCY	OMIM:613752
HP:0011804	Abnormal muscle physiology	191	AHCY	ORPHA:88618
HP:0011804	Abnormal muscle physiology	51079	NDUFA13	OMIM:618249
HP:0011804	Abnormal muscle physiology	819	CAMLG	OMIM:620201
HP:0011804	Abnormal muscle physiology	6606	SMN1	OMIM:253300
HP:0011804	Abnormal muscle physiology	8604	SLC25A12	OMIM:612949
HP:0011804	Abnormal muscle physiology	5805	PTS	ORPHA:13
HP:0011804	Abnormal muscle physiology	8802	SUCLG1	OMIM:245400
HP:0011804	Abnormal muscle physiology	5354	PLP1	ORPHA:280210
HP:0011804	Abnormal muscle physiology	5354	PLP1	ORPHA:280219
HP:0011804	Abnormal muscle physiology	6792	CDKL5	ORPHA:505652
HP:0011804	Abnormal muscle physiology	6792	CDKL5	ORPHA:1934
HP:0011804	Abnormal muscle physiology	6712	SPTBN2	OMIM:600224
HP:0011804	Abnormal muscle physiology	1327	COX4I1	OMIM:619060
HP:0011804	Abnormal muscle physiology	4633	MYL2	ORPHA:2020
HP:0011804	Abnormal muscle physiology	3679	ITGA7	ORPHA:2020
HP:0011804	Abnormal muscle physiology	9200	HACD1	ORPHA:2020
HP:0011804	Abnormal muscle physiology	51776	MAP3K20	ORPHA:2020
HP:0011804	Abnormal muscle physiology	6390	SDHB	OMIM:619224
HP:0011804	Abnormal muscle physiology	6390	SDHB	ORPHA:3208
HP:0011804	Abnormal muscle physiology	2903	GRIN2A	ORPHA:289266
HP:0011804	Abnormal muscle physiology	388962	BOLA3	OMIM:614299
HP:0011804	Abnormal muscle physiology	10352	WARS2	ORPHA:572798
HP:0011804	Abnormal muscle physiology	84342	COG8	ORPHA:95428
HP:0011804	Abnormal muscle physiology	3737	KCNA2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	1759	DNM1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	1759	DNM1	OMIM:620352
HP:0011804	Abnormal muscle physiology	8120	AP3B2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	523	ATP6V1A	ORPHA:442835
HP:0011804	Abnormal muscle physiology	10991	SLC38A3	ORPHA:442835
HP:0011804	Abnormal muscle physiology	51343	FZR1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	22906	TRAK1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2566	GABRG2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	1917	EEF1A2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2561	GABRB2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	8831	SYNGAP1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	7532	YWHAG	ORPHA:442835
HP:0011804	Abnormal muscle physiology	79876	UBA5	ORPHA:442835
HP:0011804	Abnormal muscle physiology	6328	SCN3A	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2558	GABRA5	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2906	GRIN2D	ORPHA:442835
HP:0011804	Abnormal muscle physiology	116150	NUS1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	774	CACNA1B	ORPHA:442835
HP:0011804	Abnormal muscle physiology	1213	CLTC	ORPHA:442835
HP:0011804	Abnormal muscle physiology	51741	WWOX	ORPHA:442835
HP:0011804	Abnormal muscle physiology	23334	SZT2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	51412	ACTL6B	ORPHA:442835
HP:0011804	Abnormal muscle physiology	348980	HCN1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	6506	SLC1A2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	8867	SYNJ1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2258	FGF13	ORPHA:442835
HP:0011804	Abnormal muscle physiology	477	ATP1A2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	3745	KCNB1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	284111	SLC13A5	ORPHA:442835
HP:0011804	Abnormal muscle physiology	25977	NECAP1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	16	AARS1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	6334	SCN8A	ORPHA:442835
HP:0011804	Abnormal muscle physiology	22866	CNKSR2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	9568	GABBR2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	9568	GABBR2	OMIM:617904
HP:0011804	Abnormal muscle physiology	2555	GABRA2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	55152	DALRD3	ORPHA:442835
HP:0011804	Abnormal muscle physiology	773	CACNA1A	ORPHA:442835
HP:0011804	Abnormal muscle physiology	26999	CYFIP2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	4915	NTRK2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	25973	PARS2	ORPHA:442835
HP:0011804	Abnormal muscle physiology	23097	CDK19	ORPHA:442835
HP:0011804	Abnormal muscle physiology	64801	ARV1	ORPHA:442835
HP:0011804	Abnormal muscle physiology	79947	DHDDS	ORPHA:442835
HP:0011804	Abnormal muscle physiology	2257	FGF12	ORPHA:442835
HP:0011804	Abnormal muscle physiology	5530	PPP3CA	ORPHA:442835
HP:0011804	Abnormal muscle physiology	478	ATP1A3	ORPHA:442835
HP:0011804	Abnormal muscle physiology	3028	HSD17B10	ORPHA:391428
HP:0011804	Abnormal muscle physiology	8943	AP3D1	OMIM:617050
HP:0011804	Abnormal muscle physiology	253738	EBF3	OMIM:617330
HP:0011804	Abnormal muscle physiology	5281	PIGF	OMIM:619356
HP:0011804	Abnormal muscle physiology	84879	MFSD2A	OMIM:616486
HP:0011804	Abnormal muscle physiology	10815	CPLX1	OMIM:617976
HP:0011804	Abnormal muscle physiology	3747	KCNC2	OMIM:619913
HP:0011804	Abnormal muscle physiology	116115	ZNF526	OMIM:619877
HP:0011804	Abnormal muscle physiology	538	ATP7A	OMIM:309400
HP:0011804	Abnormal muscle physiology	4191	MDH2	OMIM:617339
HP:0011804	Abnormal muscle physiology	9091	PIGQ	OMIM:618548
HP:0011804	Abnormal muscle physiology	9091	PIGQ	ORPHA:1934
HP:0011804	Abnormal muscle physiology	3251	HPRT1	OMIM:300322
HP:0011804	Abnormal muscle physiology	253959	RALGAPA1	OMIM:618797
HP:0011804	Abnormal muscle physiology	2273	FHL1	OMIM:300717
HP:0011804	Abnormal muscle physiology	163175	LGI4	OMIM:617468
HP:0011804	Abnormal muscle physiology	60482	SLC5A7	ORPHA:98914
HP:0011804	Abnormal muscle physiology	4649	MYO9A	ORPHA:98914
HP:0011804	Abnormal muscle physiology	1103	CHAT	ORPHA:98914
HP:0011804	Abnormal muscle physiology	6576	SLC25A1	ORPHA:98914
HP:0011804	Abnormal muscle physiology	6843	VAMP1	ORPHA:98914
HP:0011804	Abnormal muscle physiology	6843	VAMP1	OMIM:618323
HP:0011804	Abnormal muscle physiology	375790	AGRN	ORPHA:98914
HP:0011804	Abnormal muscle physiology	127833	SYT2	ORPHA:98914
HP:0011804	Abnormal muscle physiology	6572	SLC18A3	ORPHA:98914
HP:0011804	Abnormal muscle physiology	6616	SNAP25	ORPHA:98914
HP:0011804	Abnormal muscle physiology	64135	IFIH1	OMIM:615846
HP:0011804	Abnormal muscle physiology	8292	COLQ	ORPHA:98915
HP:0011804	Abnormal muscle physiology	3913	LAMB2	ORPHA:98915
HP:0011804	Abnormal muscle physiology	57038	RARS2	OMIM:611523
HP:0011804	Abnormal muscle physiology	10681	GNB5	ORPHA:542306
HP:0011804	Abnormal muscle physiology	10667	FARS2	ORPHA:466722
HP:0011804	Abnormal muscle physiology	4841	NONO	ORPHA:466791
HP:0011804	Abnormal muscle physiology	4000	LMNA	ORPHA:157973
HP:0011804	Abnormal muscle physiology	7355	SLC35A2	OMIM:300896
HP:0011804	Abnormal muscle physiology	79147	FKRP	OMIM:613153
HP:0011804	Abnormal muscle physiology	111	ADCY5	OMIM:619651
HP:0011804	Abnormal muscle physiology	125988	MICOS13	OMIM:618329
HP:0011804	Abnormal muscle physiology	2902	GRIN1	OMIM:619814
HP:0011804	Abnormal muscle physiology	2902	GRIN1	ORPHA:1934
HP:0011804	Abnormal muscle physiology	6389	SDHA	ORPHA:3208
HP:0011804	Abnormal muscle physiology	6392	SDHD	ORPHA:3208
HP:0011804	Abnormal muscle physiology	644096	SDHAF1	ORPHA:3208
HP:0011804	Abnormal muscle physiology	51227	PIGP	OMIM:617599
HP:0011804	Abnormal muscle physiology	51227	PIGP	ORPHA:1934
HP:0011804	Abnormal muscle physiology	9725	TMEM63A	OMIM:618688
HP:0011804	Abnormal muscle physiology	50628	GEMIN4	OMIM:617913
HP:0011804	Abnormal muscle physiology	2581	GALC	ORPHA:206436
HP:0011804	Abnormal muscle physiology	5660	PSAP	ORPHA:206436
HP:0011804	Abnormal muscle physiology	5048	PAFAH1B1	ORPHA:95232
HP:0011804	Abnormal muscle physiology	57731	SPTBN4	OMIM:617519
HP:0011804	Abnormal muscle physiology	124454	EARS2	OMIM:614924
HP:0011804	Abnormal muscle physiology	1719	DHFR	OMIM:613839
HP:0011804	Abnormal muscle physiology	28962	OSTM1	OMIM:259720
HP:0011804	Abnormal muscle physiology	6567	SLC16A2	ORPHA:59
HP:0011804	Abnormal muscle physiology	64432	MRPS25	OMIM:619025
HP:0011804	Abnormal muscle physiology	9742	IFT140	OMIM:266920
HP:0011804	Abnormal muscle physiology	8884	SLC5A6	OMIM:618973
HP:0011804	Abnormal muscle physiology	133686	NADK2	OMIM:616034
HP:0011804	Abnormal muscle physiology	3658	IREB2	OMIM:618451
HP:0011804	Abnormal muscle physiology	221692	PHACTR1	OMIM:618298
HP:0011804	Abnormal muscle physiology	10243	GPHN	OMIM:615501
HP:0011804	Abnormal muscle physiology	1140	CHRNB1	OMIM:616313
HP:0011804	Abnormal muscle physiology	3329	HSPD1	OMIM:612233
HP:0011804	Abnormal muscle physiology	8449	DHX16	OMIM:618733
HP:0011804	Abnormal muscle physiology	7407	VARS1	OMIM:617802
HP:0011804	Abnormal muscle physiology	27445	PCLO	OMIM:608027
HP:0011804	Abnormal muscle physiology	3736	KCNA1	ORPHA:1934
HP:0011804	Abnormal muscle physiology	81603	TRIM8	ORPHA:1934
HP:0011804	Abnormal muscle physiology	79751	SLC25A22	ORPHA:1934
HP:0011804	Abnormal muscle physiology	150094	SIK1	ORPHA:1934
HP:0011804	Abnormal muscle physiology	8573	CASK	ORPHA:1934
HP:0011804	Abnormal muscle physiology	23312	DMXL2	ORPHA:1934
HP:0011804	Abnormal muscle physiology	2917	GRM7	ORPHA:1934
HP:0011804	Abnormal muscle physiology	11284	PNKP	ORPHA:1934
HP:0011804	Abnormal muscle physiology	6326	SCN2A	ORPHA:1934
HP:0011804	Abnormal muscle physiology	6324	SCN1B	ORPHA:1934
HP:0011804	Abnormal muscle physiology	4761	NEUROD2	ORPHA:1934
HP:0011804	Abnormal muscle physiology	9325	TRIP4	ORPHA:486815
HP:0011804	Abnormal muscle physiology	2760	GM2A	OMIM:272750
HP:0011804	Abnormal muscle physiology	50717	DCAF8	OMIM:610100
HP:0011804	Abnormal muscle physiology	56704	JPH1	OMIM:607831
HP:0011804	Abnormal muscle physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0011804	Abnormal muscle physiology	7920	ABHD16A	OMIM:619735
HP:0011804	Abnormal muscle physiology	65998	ZFTA	ORPHA:251636
HP:0011804	Abnormal muscle physiology	5970	RELA	ORPHA:251636
HP:0011804	Abnormal muscle physiology	60481	ELOVL5	OMIM:615957
HP:0011804	Abnormal muscle physiology	60481	ELOVL5	ORPHA:423296
HP:0011804	Abnormal muscle physiology	8898	MTMR2	OMIM:601382
HP:0011804	Abnormal muscle physiology	19	ABCA1	ORPHA:31150
HP:0011804	Abnormal muscle physiology	5981	RFC1	ORPHA:504476
HP:0011804	Abnormal muscle physiology	3300	DNAJB2	OMIM:614881
HP:0011804	Abnormal muscle physiology	90678	LRSAM1	OMIM:614436
HP:0011804	Abnormal muscle physiology	64423	INF2	OMIM:614455
HP:0011804	Abnormal muscle physiology	89874	SLC25A21	OMIM:618811
HP:0011804	Abnormal muscle physiology	1786	DNMT1	OMIM:614116
HP:0011804	Abnormal muscle physiology	93587	TRMT10A	ORPHA:391408
HP:0011804	Abnormal muscle physiology	84919	PPP1R15B	ORPHA:391408
HP:0011804	Abnormal muscle physiology	3710	ITPR3	OMIM:620111
HP:0011804	Abnormal muscle physiology	9516	LITAF	OMIM:601098
HP:0011804	Abnormal muscle physiology	7515	XRCC1	OMIM:617633
HP:0011804	Abnormal muscle physiology	50846	DHH	ORPHA:168563
HP:0011804	Abnormal muscle physiology	10939	AFG3L2	ORPHA:313772
HP:0011804	Abnormal muscle physiology	724066	ATXN8	ORPHA:98760
HP:0011804	Abnormal muscle physiology	6315	ATXN8OS	ORPHA:98760
HP:0011804	Abnormal muscle physiology	54	ACP5	OMIM:607944
HP:0011804	Abnormal muscle physiology	7345	UCHL1	OMIM:615491
HP:0011804	Abnormal muscle physiology	203547	VMA21	OMIM:310440
HP:0011804	Abnormal muscle physiology	7555	CNBP	ORPHA:606
HP:0011804	Abnormal muscle physiology	7555	CNBP	OMIM:602668
HP:0011804	Abnormal muscle physiology	2010	EMD	ORPHA:98863
HP:0011804	Abnormal muscle physiology	79188	TMEM43	ORPHA:98853
HP:0011804	Abnormal muscle physiology	23224	SYNE2	ORPHA:98853
HP:0011804	Abnormal muscle physiology	80185	TTI2	ORPHA:391307
HP:0011804	Abnormal muscle physiology	80222	TARS2	OMIM:615918
HP:0011804	Abnormal muscle physiology	2972	BRF1	ORPHA:444072
HP:0011804	Abnormal muscle physiology	10300	KATNB1	OMIM:616212
HP:0011804	Abnormal muscle physiology	23310	NCAPD3	OMIM:617984
HP:0011804	Abnormal muscle physiology	1644	DDC	OMIM:608643
HP:0011804	Abnormal muscle physiology	25839	COG4	ORPHA:263501
HP:0011804	Abnormal muscle physiology	25839	COG4	OMIM:613489
HP:0011804	Abnormal muscle physiology	4718	NDUFC2	OMIM:619170
HP:0011804	Abnormal muscle physiology	5095	PCCA	OMIM:606054
HP:0011804	Abnormal muscle physiology	5096	PCCB	OMIM:606054
HP:0011804	Abnormal muscle physiology	23141	ANKLE2	OMIM:616681
HP:0011804	Abnormal muscle physiology	1193	CLIC2	OMIM:300886
HP:0011804	Abnormal muscle physiology	1193	CLIC2	ORPHA:324410
HP:0011804	Abnormal muscle physiology	535	ATP6V0A1	OMIM:619971
HP:0011804	Abnormal muscle physiology	7283	TUBG1	OMIM:615412
HP:0011804	Abnormal muscle physiology	3796	KIF2A	OMIM:615411
HP:0011804	Abnormal muscle physiology	170825	GSX2	OMIM:618646
HP:0011804	Abnormal muscle physiology	8560	DEGS1	OMIM:618404
HP:0011804	Abnormal muscle physiology	23258	DENND5A	OMIM:617281
HP:0011804	Abnormal muscle physiology	6785	ELOVL4	OMIM:614457
HP:0011804	Abnormal muscle physiology	5700	PSMC1	OMIM:620071
HP:0011804	Abnormal muscle physiology	55739	NAXD	OMIM:618321
HP:0011804	Abnormal muscle physiology	440	ASNS	OMIM:615574
HP:0011804	Abnormal muscle physiology	777	CACNA1E	OMIM:618285
HP:0011804	Abnormal muscle physiology	1284	COL4A2	OMIM:614483
HP:0011804	Abnormal muscle physiology	51294	PCDH12	OMIM:251280
HP:0011804	Abnormal muscle physiology	55770	EXOC2	OMIM:619306
HP:0011804	Abnormal muscle physiology	10695	CNPY3	OMIM:617929
HP:0011804	Abnormal muscle physiology	4629	MYH11	OMIM:619350
HP:0011804	Abnormal muscle physiology	72	ACTG2	OMIM:155310
HP:0011804	Abnormal muscle physiology	27125	AFF4	OMIM:616368
HP:0011804	Abnormal muscle physiology	219972	MPEG1	OMIM:619223
HP:0011804	Abnormal muscle physiology	9453	GGPS1	OMIM:619518
HP:0011804	Abnormal muscle physiology	4221	MEN1	ORPHA:97279
HP:0011804	Abnormal muscle physiology	486	FXYD2	OMIM:154020
HP:0011804	Abnormal muscle physiology	146862	UNC45B	OMIM:619178
HP:0011804	Abnormal muscle physiology	4604	MYBPC1	OMIM:618524
HP:0011804	Abnormal muscle physiology	4568	MT-TL2	ORPHA:663
HP:0011804	Abnormal muscle physiology	4632	MYL1	OMIM:618414
HP:0011804	Abnormal muscle physiology	5888	RAD51	ORPHA:238722
HP:0011804	Abnormal muscle physiology	10126	DNAL4	ORPHA:238722
HP:0011804	Abnormal muscle physiology	9423	NTN1	ORPHA:238722
HP:0011804	Abnormal muscle physiology	811	CALR	ORPHA:824
HP:0011804	Abnormal muscle physiology	4352	MPL	ORPHA:824
HP:0011804	Abnormal muscle physiology	3717	JAK2	ORPHA:824
HP:0011804	Abnormal muscle physiology	54790	TET2	ORPHA:824
HP:0011804	Abnormal muscle physiology	9049	AIP	ORPHA:2965
HP:0011804	Abnormal muscle physiology	50515	CHST11	OMIM:618167
HP:0011804	Abnormal muscle physiology	91452	ACBD5	OMIM:618863
HP:0011804	Abnormal muscle physiology	80207	OPA3	ORPHA:67036
HP:0011804	Abnormal muscle physiology	55733	HHAT	OMIM:600092
HP:0011804	Abnormal muscle physiology	2778	GNAS	ORPHA:94089
HP:0011804	Abnormal muscle physiology	2778	GNAS	ORPHA:79443
HP:0011804	Abnormal muscle physiology	2778	GNAS	ORPHA:79444
HP:0011804	Abnormal muscle physiology	8675	STX16	ORPHA:94089
HP:0011804	Abnormal muscle physiology	1586	CYP17A1	ORPHA:90793
HP:0011804	Abnormal muscle physiology	146206	CARMIL2	OMIM:618131
HP:0011804	Abnormal muscle physiology	10058	ABCB6	OMIM:609153
HP:0011804	Abnormal muscle physiology	54832	VPS13C	ORPHA:2828
HP:0011804	Abnormal muscle physiology	11315	PARK7	ORPHA:2828
HP:0011804	Abnormal muscle physiology	65018	PINK1	ORPHA:2828
HP:0011804	Abnormal muscle physiology	5071	PRKN	ORPHA:2828
HP:0011804	Abnormal muscle physiology	57863	CADM3	OMIM:619519
HP:0011804	Abnormal muscle physiology	8659	ALDH4A1	ORPHA:79101
HP:0011804	Abnormal muscle physiology	476	ATP1A1	OMIM:618036
HP:0011804	Abnormal muscle physiology	2717	GLA	OMIM:301500
HP:0011804	Abnormal muscle physiology	84842	HPDL	OMIM:619027
HP:0011804	Abnormal muscle physiology	5256	PHKA2	ORPHA:264580
HP:0011804	Abnormal muscle physiology	5261	PHKG2	ORPHA:264580
HP:0011804	Abnormal muscle physiology	8729	GBF1	OMIM:606483
HP:0011804	Abnormal muscle physiology	4549	MT-RNR1	ORPHA:551
HP:0011804	Abnormal muscle physiology	9015	TAF1A	ORPHA:154
HP:0011804	Abnormal muscle physiology	7112	TMPO	ORPHA:154
HP:0011804	Abnormal muscle physiology	9464	HAND2	ORPHA:154
HP:0011804	Abnormal muscle physiology	10486	CAP2	ORPHA:154
HP:0011804	Abnormal muscle physiology	10060	ABCC9	ORPHA:154
HP:0011804	Abnormal muscle physiology	7168	TPM1	ORPHA:154
HP:0011804	Abnormal muscle physiology	7414	VCL	ORPHA:154
HP:0011804	Abnormal muscle physiology	1832	DSP	ORPHA:154
HP:0011804	Abnormal muscle physiology	70	ACTC1	ORPHA:154
HP:0011804	Abnormal muscle physiology	27063	ANKRD1	ORPHA:154
HP:0011804	Abnormal muscle physiology	8048	CSRP3	ORPHA:154
HP:0011804	Abnormal muscle physiology	7139	TNNT2	ORPHA:154
HP:0011804	Abnormal muscle physiology	1829	DSG2	ORPHA:154
HP:0011804	Abnormal muscle physiology	3910	LAMA4	ORPHA:154
HP:0011804	Abnormal muscle physiology	63976	PRDM16	ORPHA:154
HP:0011804	Abnormal muscle physiology	10587	TXNRD2	ORPHA:154
HP:0011804	Abnormal muscle physiology	5350	PLN	ORPHA:154
HP:0011804	Abnormal muscle physiology	91624	NEXN	ORPHA:154
HP:0011804	Abnormal muscle physiology	79717	PPCS	ORPHA:154
HP:0011804	Abnormal muscle physiology	4624	MYH6	ORPHA:154
HP:0011804	Abnormal muscle physiology	9529	BAG5	ORPHA:154
HP:0011804	Abnormal muscle physiology	4607	MYBPC3	ORPHA:154
HP:0011804	Abnormal muscle physiology	282996	RBM20	ORPHA:154
HP:0011804	Abnormal muscle physiology	7137	TNNI3	ORPHA:154
HP:0011804	Abnormal muscle physiology	2274	FHL2	ORPHA:154
HP:0011804	Abnormal muscle physiology	6901	TAFAZZIN	ORPHA:154
HP:0011804	Abnormal muscle physiology	22845	DOLK	ORPHA:154
HP:0011804	Abnormal muscle physiology	57798	GATAD1	ORPHA:154
HP:0011804	Abnormal muscle physiology	7134	TNNC1	ORPHA:154
HP:0011804	Abnormal muscle physiology	6444	SGCD	ORPHA:154
HP:0011804	Abnormal muscle physiology	6331	SCN5A	ORPHA:154
HP:0011804	Abnormal muscle physiology	3912	LAMB1	ORPHA:352682
HP:0011804	Abnormal muscle physiology	4287	ATXN3	ORPHA:276244
HP:0011804	Abnormal muscle physiology	9935	MAFB	ORPHA:2774
HP:0011804	Abnormal muscle physiology	22947	DUX4L1	ORPHA:269
HP:0011804	Abnormal muscle physiology	2483	FRG1	ORPHA:269
HP:0011804	Abnormal muscle physiology	100288687	DUX4	ORPHA:269
HP:0011804	Abnormal muscle physiology	112	ADCY6	ORPHA:2680
HP:0011804	Abnormal muscle physiology	6566	SLC16A1	OMIM:245340
HP:0011804	Abnormal muscle physiology	56997	COQ8A	ORPHA:139485
HP:0011804	Abnormal muscle physiology	55129	ANO10	ORPHA:284289
HP:0011804	Abnormal muscle physiology	4942	OAT	OMIM:258870
HP:0011804	Abnormal muscle physiology	4509	MT-ATP8	ORPHA:480
HP:0011804	Abnormal muscle physiology	4089	SMAD4	ORPHA:2588
HP:0011804	Abnormal muscle physiology	353116	RILPL1	OMIM:619790
HP:0011804	Abnormal muscle physiology	51128	SAR1B	ORPHA:71
HP:0011804	Abnormal muscle physiology	1134	CHRNA1	OMIM:601462
HP:0011804	Abnormal muscle physiology	5339	PLEC	ORPHA:257
HP:0011804	Abnormal muscle physiology	34	ACADM	ORPHA:42
HP:0011804	Abnormal muscle physiology	1145	CHRNE	OMIM:608931
HP:0011804	Abnormal muscle physiology	1145	CHRNE	OMIM:605809
HP:0011804	Abnormal muscle physiology	4593	MUSK	OMIM:616325
HP:0011804	Abnormal muscle physiology	844	CASQ1	ORPHA:2593
HP:0011804	Abnormal muscle physiology	84876	ORAI1	ORPHA:2593
HP:0011804	Abnormal muscle physiology	2767	GNA11	ORPHA:428
HP:0011804	Abnormal muscle physiology	846	CASR	ORPHA:428
HP:0011804	Abnormal muscle physiology	6261	RYR1	ORPHA:424107
HP:0011804	Abnormal muscle physiology	10568	SLC34A2	ORPHA:60025
HP:0011804	Abnormal muscle physiology	28976	ACAD9	ORPHA:99901
HP:0011804	Abnormal muscle physiology	285489	DOK7	OMIM:254300
HP:0011804	Abnormal muscle physiology	5165	PDK3	ORPHA:352675
HP:0011804	Abnormal muscle physiology	1593	CYP27A1	OMIM:213700
HP:0011804	Abnormal muscle physiology	6445	SGCG	ORPHA:353
HP:0011804	Abnormal muscle physiology	1789	DNMT3B	OMIM:619478
HP:0011804	Abnormal muscle physiology	9420	CYP7B1	ORPHA:100986
HP:0011804	Abnormal muscle physiology	9420	CYP7B1	OMIM:270800
HP:0011804	Abnormal muscle physiology	4747	NEFL	ORPHA:99939
HP:0011804	Abnormal muscle physiology	26580	BSCL2	ORPHA:139536
HP:0011804	Abnormal muscle physiology	8314	BAP1	ORPHA:2495
HP:0011804	Abnormal muscle physiology	4771	NF2	ORPHA:2495
HP:0011804	Abnormal muscle physiology	5155	PDGFB	ORPHA:2495
HP:0011804	Abnormal muscle physiology	84231	TRAF7	ORPHA:2495
HP:0011804	Abnormal muscle physiology	6608	SMO	ORPHA:2495
HP:0011804	Abnormal muscle physiology	207	AKT1	ORPHA:2495
HP:0011804	Abnormal muscle physiology	51684	SUFU	ORPHA:2495
HP:0011804	Abnormal muscle physiology	6605	SMARCE1	ORPHA:2495
HP:0011804	Abnormal muscle physiology	1959	EGR2	OMIM:607678
HP:0011804	Abnormal muscle physiology	1959	EGR2	OMIM:605253
HP:0011804	Abnormal muscle physiology	6305	SBF1	OMIM:615284
HP:0011804	Abnormal muscle physiology	8566	PDXK	OMIM:618511
HP:0011804	Abnormal muscle physiology	8565	YARS1	OMIM:608323
HP:0011804	Abnormal muscle physiology	5456	POU3F4	ORPHA:1435
HP:0011804	Abnormal muscle physiology	7428	VHL	ORPHA:892
HP:0011804	Abnormal muscle physiology	595	CCND1	ORPHA:892
HP:0011804	Abnormal muscle physiology	23636	NUP62	ORPHA:225154
HP:0011804	Abnormal muscle physiology	103	ADAR	ORPHA:225154
HP:0011804	Abnormal muscle physiology	55681	SCYL2	ORPHA:1143
HP:0011804	Abnormal muscle physiology	84570	COL25A1	ORPHA:1143
HP:0011804	Abnormal muscle physiology	57222	ERGIC1	ORPHA:1143
HP:0011804	Abnormal muscle physiology	79628	SH3TC2	OMIM:601596
HP:0011804	Abnormal muscle physiology	80199	FUZ	ORPHA:1136
HP:0011804	Abnormal muscle physiology	121512	FGD4	OMIM:609311
HP:0011804	Abnormal muscle physiology	54332	GDAP1	OMIM:608340
HP:0011804	Abnormal muscle physiology	825	CAPN3	ORPHA:267
HP:0011804	Abnormal muscle physiology	57449	PLEKHG5	OMIM:611067
HP:0011804	Abnormal muscle physiology	84909	AOPEP	OMIM:619565
HP:0011804	Abnormal muscle physiology	3939	LDHA	OMIM:612933
HP:0011804	Abnormal muscle physiology	7132	TNFRSF1A	OMIM:142680
HP:0011804	Abnormal muscle physiology	51308	REEP2	OMIM:615625
HP:0011804	Abnormal muscle physiology	28958	COA3	OMIM:619058
HP:0011804	Abnormal muscle physiology	65080	MRPL44	OMIM:615395
HP:0011804	Abnormal muscle physiology	1890	TYMP	OMIM:603041
HP:0011804	Abnormal muscle physiology	125170	MIEF2	OMIM:619024
HP:0011804	Abnormal muscle physiology	84705	GTPBP3	OMIM:616198
HP:0011804	Abnormal muscle physiology	92667	MGME1	OMIM:615084
HP:0011804	Abnormal muscle physiology	3980	LIG3	OMIM:619780
HP:0011804	Abnormal muscle physiology	65260	COA7	OMIM:618387
HP:0011804	Abnormal muscle physiology	1778	DYNC1H1	OMIM:614228
HP:0011804	Abnormal muscle physiology	23095	KIF1B	OMIM:118210
HP:0011804	Abnormal muscle physiology	5264	PHYH	OMIM:266500
HP:0011804	Abnormal muscle physiology	11149	BVES	OMIM:616812
HP:0011804	Abnormal muscle physiology	540	ATP7B	OMIM:277900
HP:0011804	Abnormal muscle physiology	8106	PABPN1	OMIM:164300
HP:0011804	Abnormal muscle physiology	272	AMPD3	ORPHA:45
HP:0011804	Abnormal muscle physiology	7072	TIA1	OMIM:619133
HP:0011804	Abnormal muscle physiology	686	BTD	ORPHA:79241
HP:0011804	Abnormal muscle physiology	4507	MTAP	OMIM:112250
HP:0011804	Abnormal muscle physiology	367	AR	OMIM:313200
HP:0011804	Abnormal muscle physiology	2055	CLN8	ORPHA:1947
HP:0011804	Abnormal muscle physiology	492	ATP2B3	OMIM:302500
HP:0011804	Abnormal muscle physiology	54808	DYM	ORPHA:239
HP:0011804	Abnormal muscle physiology	5566	PRKACA	OMIM:615830
HP:0011804	Abnormal muscle physiology	5566	PRKACA	ORPHA:189439
HP:0011804	Abnormal muscle physiology	79798	ARMC5	ORPHA:189427
HP:0011804	Abnormal muscle physiology	56244	BTNL2	ORPHA:797
HP:0011804	Abnormal muscle physiology	10345	TRDN	OMIM:615441
HP:0011804	Abnormal muscle physiology	5224	PGAM2	OMIM:261670
HP:0011804	Abnormal muscle physiology	7156	TOP3A	OMIM:618098
HP:0011804	Abnormal muscle physiology	4519	MT-CYB	OMIM:540000
HP:0011804	Abnormal muscle physiology	4511	MT-TC	OMIM:540000
HP:0011804	Abnormal muscle physiology	50640	PNPLA8	OMIM:251950
HP:0011804	Abnormal muscle physiology	23347	SMCHD1	OMIM:158901
HP:0011804	Abnormal muscle physiology	5255	PHKA1	OMIM:300559
HP:0011804	Abnormal muscle physiology	22954	TRIM32	OMIM:254110
HP:0011804	Abnormal muscle physiology	1716	DGUOK	ORPHA:329314
HP:0011804	Abnormal muscle physiology	5257	PHKB	ORPHA:79240
HP:0011804	Abnormal muscle physiology	7415	VCP	OMIM:167320
HP:0011804	Abnormal muscle physiology	6607	SMN2	OMIM:253400
HP:0011804	Abnormal muscle physiology	10049	DNAJB6	OMIM:603511
HP:0011804	Abnormal muscle physiology	54344	DPM3	ORPHA:263494
HP:0011804	Abnormal muscle physiology	2992	GYG1	OMIM:616199
HP:0011804	Abnormal muscle physiology	8291	DYSF	ORPHA:45448
HP:0011804	Abnormal muscle physiology	23534	TNPO3	OMIM:608423
HP:0011804	Abnormal muscle physiology	6443	SGCB	ORPHA:119
HP:0011804	Abnormal muscle physiology	203859	ANO5	OMIM:611307
HP:0011804	Abnormal muscle physiology	9987	HNRNPDL	OMIM:609115
HP:0011804	Abnormal muscle physiology	270	AMPD1	OMIM:615511
HP:0011804	Abnormal muscle physiology	859	CAV3	OMIM:123320
HP:0011804	Abnormal muscle physiology	29958	DMGDH	ORPHA:243343
HP:0011804	Abnormal muscle physiology	29958	DMGDH	OMIM:605850
HP:0011804	Abnormal muscle physiology	866	SERPINA6	OMIM:611489
HP:0011804	Abnormal muscle physiology	50484	RRM2B	OMIM:613077
HP:0011804	Abnormal muscle physiology	6786	STIM1	OMIM:185070
HP:0011804	Abnormal muscle physiology	6329	SCN4A	OMIM:613345
HP:0011804	Abnormal muscle physiology	6329	SCN4A	ORPHA:682
HP:0011804	Abnormal muscle physiology	6329	SCN4A	ORPHA:681
HP:0011804	Abnormal muscle physiology	6329	SCN4A	OMIM:170400
HP:0011804	Abnormal muscle physiology	6329	SCN4A	OMIM:170500
HP:0011804	Abnormal muscle physiology	779	CACNA1S	ORPHA:681
HP:0011804	Abnormal muscle physiology	779	CACNA1S	ORPHA:79102
HP:0011804	Abnormal muscle physiology	779	CACNA1S	OMIM:170400
HP:0011804	Abnormal muscle physiology	10008	KCNE3	ORPHA:681
HP:0011804	Abnormal muscle physiology	100134444	KCNJ18	ORPHA:79102
HP:0011804	Abnormal muscle physiology	2556	GABRA3	ORPHA:79102
HP:0011804	Abnormal muscle physiology	3762	KCNJ5	ORPHA:37553
HP:0011804	Abnormal muscle physiology	3759	KCNJ2	ORPHA:37553
HP:0011804	Abnormal muscle physiology	3094	HINT1	ORPHA:324442
HP:0011804	Abnormal muscle physiology	6683	SPAST	ORPHA:100985
HP:0011804	Abnormal muscle physiology	8676	STX11	ORPHA:540
HP:0011804	Abnormal muscle physiology	201294	UNC13D	ORPHA:540
HP:0011804	Abnormal muscle physiology	6813	STXBP2	ORPHA:540
HP:0011804	Abnormal muscle physiology	22854	NTNG1	ORPHA:3095
HP:0011804	Abnormal muscle physiology	4204	MECP2	ORPHA:3095
HP:0011804	Abnormal muscle physiology	2050	EPHB4	ORPHA:137667
HP:0011804	Abnormal muscle physiology	5921	RASA1	ORPHA:137667
HP:0011804	Abnormal muscle physiology	10000	AKT3	ORPHA:99802
HP:0011804	Abnormal muscle physiology	440193	CCDC88C	ORPHA:423275
HP:0011804	Abnormal muscle physiology	4948	OCA2	ORPHA:98794
HP:0011804	Abnormal muscle physiology	427	ASAH1	ORPHA:2590
HP:0011804	Abnormal muscle physiology	2911	GRM1	ORPHA:324262
HP:0011804	Abnormal muscle physiology	1349	COX7B	ORPHA:2556
HP:0011804	Abnormal muscle physiology	3052	HCCS	ORPHA:2556
HP:0011804	Abnormal muscle physiology	2131	EXT1	ORPHA:321
HP:0011804	Abnormal muscle physiology	2132	EXT2	ORPHA:321
HP:0011804	Abnormal muscle physiology	4914	NTRK1	ORPHA:642
HP:0011804	Abnormal muscle physiology	57338	JPH3	ORPHA:98934
HP:0011804	Abnormal muscle physiology	7187	TRAF3	ORPHA:1930
HP:0011804	Abnormal muscle physiology	81622	UNC93B1	ORPHA:1930
HP:0011804	Abnormal muscle physiology	148022	TICAM1	ORPHA:1930
HP:0011804	Abnormal muscle physiology	7098	TLR3	ORPHA:1930
HP:0011804	Abnormal muscle physiology	2548	GAA	OMIM:232300
HP:0011804	Abnormal muscle physiology	9531	BAG3	OMIM:612954
HP:0011804	Abnormal muscle physiology	3508	IGHMBP2	OMIM:604320
HP:0011804	Abnormal muscle physiology	65055	REEP1	OMIM:620011
HP:0011804	Abnormal muscle physiology	3704	ITPA	OMIM:616647
HP:0011804	Abnormal muscle physiology	6507	SLC1A3	OMIM:612656
HP:0011804	Abnormal muscle physiology	5010	CLDN11	OMIM:619328
HP:0011804	Abnormal muscle physiology	85465	SELENOI	OMIM:618768
HP:0011804	Abnormal muscle physiology	57704	GBA2	OMIM:614409
HP:0011804	Abnormal muscle physiology	57704	GBA2	ORPHA:320391
HP:0011804	Abnormal muscle physiology	81790	RNF170	OMIM:619686
HP:0011804	Abnormal muscle physiology	5277	PIGA	OMIM:300868
HP:0011804	Abnormal muscle physiology	51271	UBAP1	OMIM:618418
HP:0011804	Abnormal muscle physiology	6304	SATB1	OMIM:619229
HP:0011804	Abnormal muscle physiology	57156	TMEM63C	OMIM:619966
HP:0011804	Abnormal muscle physiology	57187	THOC2	ORPHA:457240
HP:0011804	Abnormal muscle physiology	220296	HEPACAM	OMIM:613925
HP:0011804	Abnormal muscle physiology	25782	RAB3GAP2	ORPHA:401830
HP:0011804	Abnormal muscle physiology	51204	TACO1	ORPHA:255241
HP:0011804	Abnormal muscle physiology	1355	COX15	ORPHA:255241
HP:0011804	Abnormal muscle physiology	123263	MTFMT	ORPHA:255241
HP:0011804	Abnormal muscle physiology	51601	LIPT1	ORPHA:255241
HP:0011804	Abnormal muscle physiology	4695	NDUFA2	ORPHA:255241
HP:0011804	Abnormal muscle physiology	4697	NDUFA4	ORPHA:255241
HP:0011804	Abnormal muscle physiology	4704	NDUFA9	ORPHA:255241
HP:0011804	Abnormal muscle physiology	9179	AP4M1	ORPHA:280763
HP:0011804	Abnormal muscle physiology	23431	AP4E1	ORPHA:280763
HP:0011804	Abnormal muscle physiology	23769	FLRT1	ORPHA:320406
HP:0011804	Abnormal muscle physiology	64837	KLC2	ORPHA:320406
HP:0011804	Abnormal muscle physiology	8242	KDM5C	OMIM:300534
HP:0011804	Abnormal muscle physiology	340075	ARSI	ORPHA:401815
HP:0011804	Abnormal muscle physiology	4141	MARS1	ORPHA:401835
HP:0011804	Abnormal muscle physiology	57498	KIDINS220	ORPHA:521390
HP:0011804	Abnormal muscle physiology	22948	CCT5	ORPHA:139578
HP:0011804	Abnormal muscle physiology	51663	ZFR	ORPHA:401840
HP:0011804	Abnormal muscle physiology	6253	RTN2	ORPHA:100993
HP:0011804	Abnormal muscle physiology	3839	KPNA3	ORPHA:171612
HP:0011804	Abnormal muscle physiology	79152	FA2H	ORPHA:329308
HP:0011804	Abnormal muscle physiology	9907	AP5Z1	ORPHA:306511
HP:0011804	Abnormal muscle physiology	1201	CLN3	ORPHA:228346
HP:0011804	Abnormal muscle physiology	10367	MICU1	ORPHA:401768
HP:0011804	Abnormal muscle physiology	79776	ZFHX4	ORPHA:91411
HP:0011804	Abnormal muscle physiology	84668	HYCC1	OMIM:610532
HP:0011804	Abnormal muscle physiology	2313	FLI1	ORPHA:370348
HP:0011804	Abnormal muscle physiology	5138	PDE2A	OMIM:619150
HP:0011804	Abnormal muscle physiology	347734	SLC35B2	OMIM:620269
HP:0011804	Abnormal muscle physiology	10565	ARFGEF1	OMIM:619964
HP:0011804	Abnormal muscle physiology	6844	VAMP2	OMIM:618760
HP:0011804	Abnormal muscle physiology	10087	CERT1	OMIM:616351
HP:0011804	Abnormal muscle physiology	27089	UQCRQ	OMIM:615159
HP:0011804	Abnormal muscle physiology	7701	ZNF142	OMIM:618425
HP:0011804	Abnormal muscle physiology	57479	PRR12	OMIM:619539
HP:0011804	Abnormal muscle physiology	197322	ACSF3	ORPHA:289504
HP:0011804	Abnormal muscle physiology	56160	NSMCE3	OMIM:617241
HP:0011804	Abnormal muscle physiology	51025	PAM16	OMIM:613320
HP:0011804	Abnormal muscle physiology	23102	TBC1D2B	OMIM:619323
HP:0011804	Abnormal muscle physiology	2664	GDI1	OMIM:300849
HP:0011804	Abnormal muscle physiology	1000	CDH2	OMIM:618929
HP:0011804	Abnormal muscle physiology	7074	TIAM1	OMIM:619908
HP:0011804	Abnormal muscle physiology	3643	INSR	ORPHA:508
HP:0011804	Abnormal muscle physiology	374354	NHLRC2	OMIM:618278
HP:0011804	Abnormal muscle physiology	5296	PIK3R2	OMIM:603387
HP:0011804	Abnormal muscle physiology	6477	SIAH1	OMIM:619314
HP:0011804	Abnormal muscle physiology	283120	H19	ORPHA:231144
HP:0011804	Abnormal muscle physiology	1363	CPE	OMIM:619326
HP:0011804	Abnormal muscle physiology	55780	ERMARD	ORPHA:75857
HP:0011804	Abnormal muscle physiology	56992	KIF15	ORPHA:261323
HP:0011804	Abnormal muscle physiology	84992	PIGY	ORPHA:247262
HP:0011804	Abnormal muscle physiology	284098	PIGW	ORPHA:247262
HP:0011804	Abnormal muscle physiology	54658	UGT1A1	ORPHA:79234
HP:0011804	Abnormal muscle physiology	4094	MAF	ORPHA:1272
HP:0011804	Abnormal muscle physiology	8218	CLTCL1	ORPHA:453510
HP:0011804	Abnormal muscle physiology	162417	NAGS	ORPHA:927
HP:0011804	Abnormal muscle physiology	57194	ATP10A	ORPHA:411515
HP:0011804	Abnormal muscle physiology	9829	DNAJC6	ORPHA:391411
HP:0011804	Abnormal muscle physiology	5420	PODXL	ORPHA:391411
HP:0011804	Abnormal muscle physiology	56983	POGLUT1	OMIM:617232
HP:0011804	Abnormal muscle physiology	1371	CPOX	ORPHA:79273
HP:0011804	Abnormal muscle physiology	90523	MLIP	OMIM:620138
HP:0011804	Abnormal muscle physiology	1337	COX6A1	OMIM:616039
HP:0011804	Abnormal muscle physiology	119559	SFXN4	OMIM:615578
HP:0011804	Abnormal muscle physiology	64208	POPDC3	OMIM:618848
HP:0011804	Abnormal muscle physiology	81545	FBXO38	OMIM:615575
HP:0011804	Abnormal muscle physiology	4137	MAPT	ORPHA:240094
HP:0011804	Abnormal muscle physiology	9782	MATR3	OMIM:606070
HP:0011804	Abnormal muscle physiology	55775	TDP1	ORPHA:94124
HP:0011804	Abnormal muscle physiology	7879	RAB7A	OMIM:600882
HP:0011804	Abnormal muscle physiology	200205	IBA57	ORPHA:468661
HP:0011804	Abnormal muscle physiology	3714	JAG2	OMIM:619566
HP:0011804	Abnormal muscle physiology	6652	SORD	OMIM:618912
HP:0011804	Abnormal muscle physiology	79048	SECISBP2	ORPHA:171706
HP:0011804	Abnormal muscle physiology	3035	HARS1	ORPHA:488333
HP:0011804	Abnormal muscle physiology	3315	HSPB1	OMIM:608634
HP:0011804	Abnormal muscle physiology	122622	ADSS1	OMIM:617030
HP:0011804	Abnormal muscle physiology	122622	ADSS1	ORPHA:482601
HP:0011804	Abnormal muscle physiology	215	ABCD1	ORPHA:139399
HP:0011804	Abnormal muscle physiology	10908	PNPLA6	OMIM:612020
HP:0011804	Abnormal muscle physiology	64856	VWA1	OMIM:619216
HP:0011804	Abnormal muscle physiology	4547	MTTP	ORPHA:14
HP:0011804	Abnormal muscle physiology	8557	TCAP	OMIM:601954
HP:0011804	Abnormal muscle physiology	2705	GJB1	OMIM:302800
HP:0011804	Abnormal muscle physiology	7453	WARS1	OMIM:617721
HP:0011804	Abnormal muscle physiology	55526	DHTKD1	OMIM:615025
HP:0011804	Abnormal muscle physiology	23259	DDHD2	OMIM:615033
HP:0011804	Abnormal muscle physiology	8988	HSPB3	OMIM:613376
HP:0011804	Abnormal muscle physiology	5375	PMP2	OMIM:618279
HP:0011804	Abnormal muscle physiology	10516	FBLN5	OMIM:619764
HP:0011804	Abnormal muscle physiology	26353	HSPB8	OMIM:158590
HP:0011804	Abnormal muscle physiology	23299	BICD2	OMIM:615290
HP:0011804	Abnormal muscle physiology	11117	EMILIN1	OMIM:620080
HP:0011804	Abnormal muscle physiology	1674	DES	ORPHA:98909
HP:0011804	Abnormal muscle physiology	81846	SBF2	ORPHA:99956
HP:0011804	Abnormal muscle physiology	57410	SCYL1	ORPHA:466794
HP:0011804	Abnormal muscle physiology	3098	HK1	ORPHA:99953
HP:0011804	Abnormal muscle physiology	3098	HK1	OMIM:605285
HP:0011804	Abnormal muscle physiology	126129	CPT1C	ORPHA:444099
HP:0011804	Abnormal muscle physiology	10397	NDRG1	ORPHA:99950
HP:0011804	Abnormal muscle physiology	23676	SMPX	OMIM:301075
HP:0011804	Abnormal muscle physiology	59345	GNB4	OMIM:615185
HP:0011804	Abnormal muscle physiology	57716	PRX	OMIM:145900
HP:0011804	Abnormal muscle physiology	9927	MFN2	ORPHA:99947
HP:0011804	Abnormal muscle physiology	3074	HEXB	ORPHA:309155
HP:0011804	Abnormal muscle physiology	2260	FGFR1	ORPHA:220386
HP:0011804	Abnormal muscle physiology	2260	FGFR1	ORPHA:93924
HP:0011804	Abnormal muscle physiology	815	CAMK2A	OMIM:617798
HP:0011804	Abnormal muscle physiology	10381	TUBB3	ORPHA:300570
HP:0011804	Abnormal muscle physiology	2671	GFER	ORPHA:330054
HP:0011804	Abnormal muscle physiology	25914	RTTN	ORPHA:468631
HP:0011804	Abnormal muscle physiology	29968	PSAT1	ORPHA:284417
HP:0011804	Abnormal muscle physiology	283989	TSEN54	ORPHA:2524
HP:0011804	Abnormal muscle physiology	116461	TSEN15	ORPHA:2524
HP:0011804	Abnormal muscle physiology	79042	TSEN34	ORPHA:2524
HP:0011804	Abnormal muscle physiology	80746	TSEN2	ORPHA:2524
HP:0011804	Abnormal muscle physiology	51091	SEPSECS	ORPHA:2524
HP:0011804	Abnormal muscle physiology	56947	MFF	ORPHA:485421
HP:0011804	Abnormal muscle physiology	58497	PRUNE1	ORPHA:544469
HP:0011804	Abnormal muscle physiology	2683	B4GALT1	ORPHA:79332
HP:0011804	Abnormal muscle physiology	23516	SLC39A14	ORPHA:521406
HP:0011804	Abnormal muscle physiology	267010	RNU12	ORPHA:512260
HP:0011804	Abnormal muscle physiology	79784	MYH14	ORPHA:397744
HP:0011804	Abnormal muscle physiology	55958	KLHL9	ORPHA:399081
HP:0011804	Abnormal muscle physiology	1410	CRYAB	ORPHA:399058
HP:0011804	Abnormal muscle physiology	3032	HADHB	ORPHA:746
HP:0011804	Abnormal muscle physiology	9499	MYOT	ORPHA:98911
HP:0011804	Abnormal muscle physiology	9499	MYOT	OMIM:609200
HP:0011804	Abnormal muscle physiology	59341	TRPV4	OMIM:181405
HP:0011804	Abnormal muscle physiology	10755	GIPC1	ORPHA:98897
HP:0011804	Abnormal muscle physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0011804	Abnormal muscle physiology	11155	LDB3	OMIM:609452
HP:0011804	Abnormal muscle physiology	4576	MT-TT	OMIM:551000
HP:0011804	Abnormal muscle physiology	7019	TFAM	OMIM:617156
HP:0011804	Abnormal muscle physiology	50964	SOST	OMIM:269500
HP:0011804	Abnormal muscle physiology	50964	SOST	ORPHA:3416
HP:0011804	Abnormal muscle physiology	50964	SOST	ORPHA:3152
HP:0011804	Abnormal muscle physiology	6495	SIX1	OMIM:113650
HP:0011804	Abnormal muscle physiology	6495	SIX1	ORPHA:107
HP:0011804	Abnormal muscle physiology	6495	SIX1	ORPHA:52429
HP:0011804	Abnormal muscle physiology	56172	ANKH	ORPHA:1522
HP:0011804	Abnormal muscle physiology	56172	ANKH	OMIM:123000
HP:0011804	Abnormal muscle physiology	57167	SALL4	OMIM:607323
HP:0011804	Abnormal muscle physiology	29887	SNX10	OMIM:615085
HP:0011804	Abnormal muscle physiology	9790	BMS1	ORPHA:1114
HP:0011804	Abnormal muscle physiology	10054	UBA2	ORPHA:1114
HP:0011804	Abnormal muscle physiology	3691	ITGB4	ORPHA:1114
HP:0011804	Abnormal muscle physiology	7020	TFAP2A	OMIM:113620
HP:0011804	Abnormal muscle physiology	84617	TUBB6	OMIM:617732
HP:0011804	Abnormal muscle physiology	3211	HOXB1	OMIM:614744
HP:0011804	Abnormal muscle physiology	147912	SIX5	ORPHA:107
HP:0011804	Abnormal muscle physiology	84168	ANTXR1	OMIM:230740
HP:0011804	Abnormal muscle physiology	64127	NOD2	ORPHA:90340
HP:0011804	Abnormal muscle physiology	29089	UBE2T	OMIM:616435
HP:0011804	Abnormal muscle physiology	79029	AFG2B	OMIM:619616
HP:0011804	Abnormal muscle physiology	3155	HMGCL	ORPHA:20
HP:0011804	Abnormal muscle physiology	1757	SARDH	ORPHA:3129
HP:0011804	Abnormal muscle physiology	10463	SLC30A9	OMIM:617595
HP:0011804	Abnormal muscle physiology	96459	FNIP1	OMIM:619705
HP:0011804	Abnormal muscle physiology	375387	NRROS	OMIM:618875
HP:0011804	Abnormal muscle physiology	203190	LGI3	OMIM:620007
HP:0011804	Abnormal muscle physiology	4556	MT-TE	ORPHA:2596
HP:0011804	Abnormal muscle physiology	11198	SUPT16H	OMIM:619480
HP:0011804	Abnormal muscle physiology	7516	XRCC2	OMIM:617247
HP:0011804	Abnormal muscle physiology	23064	SETX	OMIM:602433
HP:0011804	Abnormal muscle physiology	4929	NR4A2	OMIM:619911
HP:0011804	Abnormal muscle physiology	1497	CTNS	OMIM:219800
HP:0011804	Abnormal muscle physiology	3064	HTT	ORPHA:248111
HP:0011804	Abnormal muscle physiology	29998	BICRA	OMIM:619325
HP:0011804	Abnormal muscle physiology	25978	CHMP2B	ORPHA:803
HP:0011804	Abnormal muscle physiology	3178	HNRNPA1	ORPHA:803
HP:0011804	Abnormal muscle physiology	8148	TAF15	ORPHA:803
HP:0011804	Abnormal muscle physiology	5445	PON2	ORPHA:803
HP:0011804	Abnormal muscle physiology	9217	VAPB	ORPHA:803
HP:0011804	Abnormal muscle physiology	55830	GLT8D1	ORPHA:803
HP:0011804	Abnormal muscle physiology	755	CFAP410	ORPHA:803
HP:0011804	Abnormal muscle physiology	10891	PPARGC1A	ORPHA:803
HP:0011804	Abnormal muscle physiology	9896	FIG4	ORPHA:803
HP:0011804	Abnormal muscle physiology	5444	PON1	ORPHA:803
HP:0011804	Abnormal muscle physiology	5446	PON3	ORPHA:803
HP:0011804	Abnormal muscle physiology	54209	TREM2	ORPHA:803
HP:0011804	Abnormal muscle physiology	283	ANG	ORPHA:803
HP:0011804	Abnormal muscle physiology	29978	UBQLN2	ORPHA:803
HP:0011804	Abnormal muscle physiology	4750	NEK1	ORPHA:803
HP:0011804	Abnormal muscle physiology	2043	EPHA4	ORPHA:803
HP:0011804	Abnormal muscle physiology	1610	DAO	ORPHA:803
HP:0011804	Abnormal muscle physiology	2066	ERBB4	ORPHA:803
HP:0011804	Abnormal muscle physiology	311	ANXA11	ORPHA:803
HP:0011804	Abnormal muscle physiology	23025	UNC13A	ORPHA:803
HP:0011804	Abnormal muscle physiology	9562	MINPP1	ORPHA:284339
HP:0011804	Abnormal muscle physiology	182	JAG1	OMIM:619574
HP:0011804	Abnormal muscle physiology	3798	KIF5A	ORPHA:100991
HP:0011804	Abnormal muscle physiology	55331	ACER3	OMIM:617762
HP:0011804	Abnormal muscle physiology	160418	TMTC3	OMIM:617255
HP:0011804	Abnormal muscle physiology	9255	AIMP1	OMIM:260600
HP:0011804	Abnormal muscle physiology	51112	TRAPPC12	OMIM:617669
HP:0011804	Abnormal muscle physiology	84081	NSRP1	OMIM:620001
HP:0011804	Abnormal muscle physiology	776	CACNA1D	ORPHA:369929
HP:0011804	Abnormal muscle physiology	93627	TBCK	ORPHA:488632
HP:0011807	Type 1 muscle fiber atrophy	3190	HNRNPK	ORPHA:453504
HP:0011807	Type 1 muscle fiber atrophy	3190	HNRNPK	ORPHA:352665
HP:0011807	Type 1 muscle fiber atrophy	6261	RYR1	ORPHA:98905
HP:0011807	Type 1 muscle fiber atrophy	57190	SELENON	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	58	ACTA1	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	4633	MYL2	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	3679	ITGA7	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	7169	TPM2	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	9200	HACD1	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	7170	TPM3	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	51776	MAP3K20	ORPHA:2020
HP:0011807	Type 1 muscle fiber atrophy	4000	LMNA	ORPHA:98855
HP:0011807	Type 1 muscle fiber atrophy	4000	LMNA	ORPHA:98853
HP:0011807	Type 1 muscle fiber atrophy	199857	ALG14	OMIM:619036
HP:0011807	Type 1 muscle fiber atrophy	2010	EMD	OMIM:310300
HP:0011807	Type 1 muscle fiber atrophy	2010	EMD	ORPHA:98863
HP:0011807	Type 1 muscle fiber atrophy	57731	SPTBN4	OMIM:617519
HP:0011807	Type 1 muscle fiber atrophy	2273	FHL1	ORPHA:98863
HP:0011807	Type 1 muscle fiber atrophy	79188	TMEM43	ORPHA:98853
HP:0011807	Type 1 muscle fiber atrophy	23345	SYNE1	ORPHA:98853
HP:0011807	Type 1 muscle fiber atrophy	23224	SYNE2	ORPHA:98853
HP:0011808	Decreased patellar reflex	65055	REEP1	OMIM:614751
HP:0011808	Decreased patellar reflex	23299	BICD2	OMIM:615290
HP:0011808	Decreased patellar reflex	79784	MYH14	OMIM:614369
HP:0011808	Decreased patellar reflex	3032	HADHB	ORPHA:746
HP:0011808	Decreased patellar reflex	3030	HADHA	ORPHA:746
HP:0011808	Decreased patellar reflex	11155	LDB3	ORPHA:98912
HP:0011808	Decreased patellar reflex	10516	FBLN5	OMIM:608895
HP:0011808	Decreased patellar reflex	4625	MYH7	ORPHA:437572
HP:0011808	Decreased patellar reflex	1778	DYNC1H1	OMIM:158600
HP:0011808	Decreased patellar reflex	10079	ATP9A	OMIM:620242
HP:0011809	Paradoxical myotonia	6329	SCN4A	ORPHA:684
HP:0011809	Paradoxical myotonia	6329	SCN4A	OMIM:168300
HP:0011812	Agraphesthesia	10159	ATP6AP2	OMIM:300423
HP:0011812	Agraphesthesia	10159	ATP6AP2	ORPHA:93952
HP:0011813	Increased cerebral lipofuscin	5538	PPT1	OMIM:256730
HP:0011813	Increased cerebral lipofuscin	1203	CLN5	OMIM:256731
HP:0011813	Increased cerebral lipofuscin	2055	CLN8	OMIM:600143
HP:0011813	Increased cerebral lipofuscin	2055	CLN8	OMIM:610003
HP:0011813	Increased cerebral lipofuscin	54982	CLN6	OMIM:204300
HP:0011813	Increased cerebral lipofuscin	54982	CLN6	OMIM:601780
HP:0011813	Increased cerebral lipofuscin	80331	DNAJC5	OMIM:162350
HP:0011813	Increased cerebral lipofuscin	1509	CTSD	OMIM:610127
HP:0011813	Increased cerebral lipofuscin	1201	CLN3	OMIM:204200
HP:0011813	Increased cerebral lipofuscin	1200	TPP1	OMIM:204500
HP:0011813	Increased cerebral lipofuscin	5660	PSAP	OMIM:610539
HP:0011813	Increased cerebral lipofuscin	80222	TARS2	OMIM:615918
HP:0011814	Increased urinary hypoxanthine	4337	MOCS1	OMIM:252150
HP:0011814	Increased urinary hypoxanthine	4338	MOCS2	OMIM:252160
HP:0011814	Increased urinary hypoxanthine	55034	MOCOS	OMIM:603592
HP:0011815	Cephalocele	79600	TCTN1	ORPHA:475
HP:0011815	Cephalocele	79600	TCTN1	ORPHA:564
HP:0011815	Cephalocele	51684	SUFU	ORPHA:475
HP:0011815	Cephalocele	54806	AHI1	ORPHA:475
HP:0011815	Cephalocele	54806	AHI1	ORPHA:220493
HP:0011815	Cephalocele	153241	CEP120	ORPHA:475
HP:0011815	Cephalocele	153241	CEP120	ORPHA:220493
HP:0011815	Cephalocele	153241	CEP120	OMIM:616300
HP:0011815	Cephalocele	65250	CPLANE1	ORPHA:475
HP:0011815	Cephalocele	9731	CEP104	ORPHA:475
HP:0011815	Cephalocele	219844	HYLS1	ORPHA:475
HP:0011815	Cephalocele	23247	KATNIP	ORPHA:475
HP:0011815	Cephalocele	95681	CEP41	ORPHA:475
HP:0011815	Cephalocele	95681	CEP41	ORPHA:220493
HP:0011815	Cephalocele	10464	PIBF1	ORPHA:475
HP:0011815	Cephalocele	80210	ARMC9	ORPHA:475
HP:0011815	Cephalocele	23116	TOGARAM1	ORPHA:475
HP:0011815	Cephalocele	25776	CBY1	ORPHA:475
HP:0011815	Cephalocele	403	ARL3	ORPHA:475
HP:0011815	Cephalocele	65062	TMEM237	ORPHA:475
HP:0011815	Cephalocele	65062	TMEM237	OMIM:614424
HP:0011815	Cephalocele	65062	TMEM237	ORPHA:220497
HP:0011815	Cephalocele	65062	TMEM237	ORPHA:2318
HP:0011815	Cephalocele	65062	TMEM237	ORPHA:564
HP:0011815	Cephalocele	3769	KCNJ13	ORPHA:65
HP:0011815	Cephalocele	343035	RD3	ORPHA:65
HP:0011815	Cephalocele	145226	RDH12	ORPHA:65
HP:0011815	Cephalocele	1406	CRX	ORPHA:65
HP:0011815	Cephalocele	64802	NMNAT1	ORPHA:65
HP:0011815	Cephalocele	57096	RPGRIP1	ORPHA:65
HP:0011815	Cephalocele	57096	RPGRIP1	ORPHA:564
HP:0011815	Cephalocele	10383	TUBB4B	ORPHA:65
HP:0011815	Cephalocele	9742	IFT140	ORPHA:65
HP:0011815	Cephalocele	85015	USP45	ORPHA:65
HP:0011815	Cephalocele	6121	RPE65	ORPHA:65
HP:0011815	Cephalocele	23418	CRB1	ORPHA:65
HP:0011815	Cephalocele	5130	PCYT1A	ORPHA:65
HP:0011815	Cephalocele	9657	IQCB1	ORPHA:65
HP:0011815	Cephalocele	392255	GDF6	ORPHA:65
HP:0011815	Cephalocele	23746	AIPL1	ORPHA:65
HP:0011815	Cephalocele	3000	GUCY2D	ORPHA:65
HP:0011815	Cephalocele	9227	LRAT	ORPHA:65
HP:0011815	Cephalocele	55812	SPATA7	ORPHA:65
HP:0011815	Cephalocele	7287	TULP1	ORPHA:65
HP:0011815	Cephalocele	167691	LCA5	ORPHA:65
HP:0011815	Cephalocele	3614	IMPDH1	ORPHA:65
HP:0011815	Cephalocele	341640	FREM2	ORPHA:2052
HP:0011815	Cephalocele	80144	FRAS1	ORPHA:2052
HP:0011815	Cephalocele	80144	FRAS1	OMIM:219000
HP:0011815	Cephalocele	23426	GRIP1	ORPHA:2052
HP:0011815	Cephalocele	51524	TMEM138	OMIM:614465
HP:0011815	Cephalocele	51524	TMEM138	ORPHA:2318
HP:0011815	Cephalocele	57514	ARHGAP31	OMIM:100300
HP:0011815	Cephalocele	57514	ARHGAP31	ORPHA:974
HP:0011815	Cephalocele	51259	TMEM216	OMIM:608091
HP:0011815	Cephalocele	51259	TMEM216	OMIM:603194
HP:0011815	Cephalocele	51259	TMEM216	ORPHA:2318
HP:0011815	Cephalocele	51259	TMEM216	ORPHA:564
HP:0011815	Cephalocele	2261	FGFR3	ORPHA:93274
HP:0011815	Cephalocele	84172	POLR1B	ORPHA:861
HP:0011815	Cephalocele	9533	POLR1C	ORPHA:861
HP:0011815	Cephalocele	51082	POLR1D	ORPHA:861
HP:0011815	Cephalocele	6949	TCOF1	ORPHA:861
HP:0011815	Cephalocele	4867	NPHP1	ORPHA:220497
HP:0011815	Cephalocele	3516	RBPJ	ORPHA:974
HP:0011815	Cephalocele	4851	NOTCH1	ORPHA:974
HP:0011815	Cephalocele	57572	DOCK6	ORPHA:974
HP:0011815	Cephalocele	285203	EOGT	ORPHA:974
HP:0011815	Cephalocele	54567	DLL4	ORPHA:974
HP:0011815	Cephalocele	57688	ZSWIM6	OMIM:603671
HP:0011815	Cephalocele	57688	ZSWIM6	ORPHA:1827
HP:0011815	Cephalocele	729920	CRPPA	OMIM:614643
HP:0011815	Cephalocele	23090	ZNF423	ORPHA:2318
HP:0011815	Cephalocele	2317	FLNB	OMIM:108720
HP:0011815	Cephalocele	2260	FGFR1	ORPHA:2117
HP:0011815	Cephalocele	2316	FLNA	ORPHA:90652
HP:0011815	Cephalocele	3912	LAMB1	OMIM:615191
HP:0011815	Cephalocele	3912	LAMB1	ORPHA:352682
HP:0011815	Cephalocele	4488	MSX2	ORPHA:60015
HP:0011815	Cephalocele	60529	ALX4	ORPHA:60015
HP:0011815	Cephalocele	3339	HSPG2	OMIM:224410
HP:0011815	Cephalocele	79583	TMEM231	OMIM:615397
HP:0011815	Cephalocele	160418	TMTC3	OMIM:617255
HP:0011815	Cephalocele	57545	CC2D2A	OMIM:612284
HP:0011815	Cephalocele	57545	CC2D2A	ORPHA:1454
HP:0011815	Cephalocele	80184	CEP290	OMIM:610188
HP:0011815	Cephalocele	79848	CSPP1	OMIM:615636
HP:0011815	Cephalocele	79848	CSPP1	ORPHA:397715
HP:0011815	Cephalocele	6608	SMO	OMIM:241800
HP:0011815	Cephalocele	79770	TXNDC15	OMIM:619879
HP:0011815	Cephalocele	10992	SF3B2	OMIM:164210
HP:0011815	Cephalocele	27077	B9D1	OMIM:614209
HP:0011815	Cephalocele	91147	TMEM67	OMIM:607361
HP:0011815	Cephalocele	91147	TMEM67	OMIM:216360
HP:0011815	Cephalocele	91147	TMEM67	ORPHA:1454
HP:0011815	Cephalocele	3239	HOXD13	ORPHA:887
HP:0011815	Cephalocele	80781	COL18A1	OMIM:267750
HP:0011815	Cephalocele	80781	COL18A1	ORPHA:1571
HP:0011815	Cephalocele	9786	KIAA0586	ORPHA:397715
HP:0011815	Cephalocele	29925	GMPPB	ORPHA:370959
HP:0011815	Cephalocele	79147	FKRP	ORPHA:370959
HP:0011815	Cephalocele	79147	FKRP	OMIM:236670
HP:0011815	Cephalocele	29954	POMT2	ORPHA:370959
HP:0011815	Cephalocele	29954	POMT2	OMIM:236670
HP:0011815	Cephalocele	84197	POMK	ORPHA:370959
HP:0011815	Cephalocele	55624	POMGNT1	ORPHA:370959
HP:0011815	Cephalocele	10585	POMT1	ORPHA:370959
HP:0011815	Cephalocele	10585	POMT1	OMIM:236670
HP:0011815	Cephalocele	54903	MKS1	OMIM:249000
HP:0011815	Cephalocele	200894	ARL13B	OMIM:612291
HP:0011815	Cephalocele	11041	B4GAT1	OMIM:615287
HP:0011815	Cephalocele	219854	TMEM218	OMIM:619562
HP:0011815	Cephalocele	84314	TMEM107	OMIM:617562
HP:0011815	Cephalocele	80776	B9D2	OMIM:614175
HP:0011815	Cephalocele	23322	RPGRIP1L	OMIM:611561
HP:0011815	Cephalocele	23322	RPGRIP1L	ORPHA:1454
HP:0011815	Cephalocele	56623	INPP5E	ORPHA:1454
HP:0011815	Cephalocele	56603	CYP26B1	OMIM:614416
HP:0011815	Cephalocele	79867	TCTN2	OMIM:613885
HP:0011815	Cephalocele	5062	PAK2	ORPHA:1571
HP:0011815	Cephalocele	26123	TCTN3	OMIM:614815
HP:0011815	Cephalocele	26005	C2CD3	OMIM:615948
HP:0011815	Cephalocele	9215	LARGE1	OMIM:236670
HP:0011815	Cephalocele	2218	FKTN	OMIM:236670
HP:0011815	Cephalocele	257	ALX3	OMIM:136760
HP:0011815	Cephalocele	257	ALX3	ORPHA:391474
HP:0011815	Cephalocele	8092	ALX1	ORPHA:306542
HP:0011815	Cephalocele	28514	DLL1	ORPHA:280195
HP:0011815	Cephalocele	2253	FGF8	ORPHA:280195
HP:0011815	Cephalocele	6496	SIX3	ORPHA:280195
HP:0011815	Cephalocele	7050	TGIF1	ORPHA:280195
HP:0011815	Cephalocele	4838	NODAL	ORPHA:280195
HP:0011815	Cephalocele	6469	SHH	ORPHA:280195
HP:0011815	Cephalocele	7546	ZIC2	ORPHA:280195
HP:0011815	Cephalocele	6491	STIL	ORPHA:280195
HP:0011815	Cephalocele	2619	GAS1	ORPHA:280195
HP:0011815	Cephalocele	84976	DISP1	ORPHA:280195
HP:0011815	Cephalocele	2736	GLI2	ORPHA:280195
HP:0011815	Cephalocele	8928	FOXH1	ORPHA:280195
HP:0011815	Cephalocele	5727	PTCH1	ORPHA:280195
HP:0011815	Cephalocele	50937	CDON	ORPHA:280195
HP:0011815	Cephalocele	157570	ESCO2	OMIM:268300
HP:0011815	Cephalocele	30813	VSX1	OMIM:614195
HP:0011817	Basal encephalocele	28514	DLL1	ORPHA:280195
HP:0011817	Basal encephalocele	2253	FGF8	ORPHA:280195
HP:0011817	Basal encephalocele	6496	SIX3	ORPHA:280195
HP:0011817	Basal encephalocele	7050	TGIF1	ORPHA:280195
HP:0011817	Basal encephalocele	4838	NODAL	ORPHA:280195
HP:0011817	Basal encephalocele	6469	SHH	ORPHA:280195
HP:0011817	Basal encephalocele	7546	ZIC2	ORPHA:280195
HP:0011817	Basal encephalocele	6491	STIL	ORPHA:280195
HP:0011817	Basal encephalocele	2619	GAS1	ORPHA:280195
HP:0011817	Basal encephalocele	84976	DISP1	ORPHA:280195
HP:0011817	Basal encephalocele	2736	GLI2	ORPHA:280195
HP:0011817	Basal encephalocele	8928	FOXH1	ORPHA:280195
HP:0011817	Basal encephalocele	5727	PTCH1	ORPHA:280195
HP:0011817	Basal encephalocele	50937	CDON	ORPHA:280195
HP:0011817	Basal encephalocele	257	ALX3	ORPHA:391474
HP:0011818	Nasofrontal encephalocele	30813	VSX1	OMIM:614195
HP:0011819	Submucous cleft soft palate	7314	UBB	ORPHA:99771
HP:0011819	Submucous cleft soft palate	57822	GRHL3	ORPHA:99771
HP:0011819	Submucous cleft soft palate	8626	TP63	ORPHA:69085
HP:0011819	Submucous cleft soft palate	51305	KCNK9	OMIM:612292
HP:0011819	Submucous cleft soft palate	4841	NONO	OMIM:300967
HP:0011819	Submucous cleft soft palate	246329	STAC3	ORPHA:168572
HP:0011819	Submucous cleft soft palate	4750	NEK1	ORPHA:2751
HP:0011819	Submucous cleft soft palate	11128	POLR3A	ORPHA:3455
HP:0011819	Submucous cleft soft palate	10526	IPO8	OMIM:619472
HP:0011819	Submucous cleft soft palate	6651	SON	ORPHA:500150
HP:0001600	Abnormality of the larynx	54903	MKS1	OMIM:249000
HP:0001600	Abnormality of the larynx	10743	RAI1	OMIM:182290
HP:0001600	Abnormality of the larynx	4750	NEK1	OMIM:263520
HP:0001600	Abnormality of the larynx	1717	DHCR7	ORPHA:818
HP:0001600	Abnormality of the larynx	63982	ANO3	ORPHA:420485
HP:0001600	Abnormality of the larynx	7473	WNT3	ORPHA:3301
HP:0001600	Abnormality of the larynx	340419	RSPO2	ORPHA:3301
HP:0001600	Abnormality of the larynx	9361	LONP1	ORPHA:1458
HP:0001600	Abnormality of the larynx	6134	RPL10	OMIM:300998
HP:0001600	Abnormality of the larynx	6134	RPL10	ORPHA:459070
HP:0001600	Abnormality of the larynx	6134	RPL10	ORPHA:435938
HP:0001600	Abnormality of the larynx	5447	POR	OMIM:201750
HP:0001600	Abnormality of the larynx	8493	PPM1D	OMIM:617450
HP:0001600	Abnormality of the larynx	104	ADARB1	OMIM:618862
HP:0001600	Abnormality of the larynx	6477	SIAH1	OMIM:619314
HP:0001600	Abnormality of the larynx	8425	LTBP4	OMIM:613177
HP:0001600	Abnormality of the larynx	6659	SOX4	OMIM:618506
HP:0001600	Abnormality of the larynx	9759	HDAC4	ORPHA:1001
HP:0001600	Abnormality of the larynx	775	CACNA1C	OMIM:620029
HP:0001600	Abnormality of the larynx	91461	PKDCC	OMIM:618821
HP:0001600	Abnormality of the larynx	5894	RAF1	OMIM:611553
HP:0001600	Abnormality of the larynx	4897	NRCAM	OMIM:619833
HP:0001600	Abnormality of the larynx	7486	WRN	ORPHA:902
HP:0001600	Abnormality of the larynx	10236	HNRNPR	OMIM:620073
HP:0001600	Abnormality of the larynx	1303	COL12A1	ORPHA:536516
HP:0001600	Abnormality of the larynx	6662	SOX9	ORPHA:140
HP:0001600	Abnormality of the larynx	284058	KANSL1	ORPHA:363965
HP:0001600	Abnormality of the larynx	284058	KANSL1	ORPHA:363958
HP:0001600	Abnormality of the larynx	284058	KANSL1	OMIM:610443
HP:0001600	Abnormality of the larynx	374879	ZNF699	OMIM:619488
HP:0001600	Abnormality of the larynx	91179	SCARF2	OMIM:600920
HP:0001600	Abnormality of the larynx	6857	SYT1	ORPHA:522077
HP:0001600	Abnormality of the larynx	3020	H3-3A	OMIM:619720
HP:0001600	Abnormality of the larynx	253959	RALGAPA1	OMIM:618797
HP:0001600	Abnormality of the larynx	3021	H3-3B	OMIM:619721
HP:0001600	Abnormality of the larynx	388015	RTL1	ORPHA:254528
HP:0001600	Abnormality of the larynx	388015	RTL1	ORPHA:96334
HP:0001600	Abnormality of the larynx	8788	DLK1	ORPHA:254528
HP:0001600	Abnormality of the larynx	8788	DLK1	ORPHA:96334
HP:0001600	Abnormality of the larynx	55384	MEG3	ORPHA:254528
HP:0001600	Abnormality of the larynx	55384	MEG3	ORPHA:96334
HP:0001600	Abnormality of the larynx	80816	ASXL3	OMIM:615485
HP:0001600	Abnormality of the larynx	51506	UFC1	OMIM:618076
HP:0001600	Abnormality of the larynx	27245	AHDC1	ORPHA:412069
HP:0001600	Abnormality of the larynx	27245	AHDC1	OMIM:615829
HP:0001600	Abnormality of the larynx	1841	DTYMK	OMIM:619847
HP:0001600	Abnormality of the larynx	51341	ZBTB7A	OMIM:619769
HP:0001600	Abnormality of the larynx	55636	CHD7	ORPHA:138
HP:0001600	Abnormality of the larynx	9723	SEMA3E	ORPHA:138
HP:0001600	Abnormality of the larynx	11128	POLR3A	ORPHA:3455
HP:0001600	Abnormality of the larynx	4038	LRP4	ORPHA:3258
HP:0001600	Abnormality of the larynx	324	APC	ORPHA:3258
HP:0001600	Abnormality of the larynx	3417	IDH1	ORPHA:99646
HP:0001600	Abnormality of the larynx	23314	SATB2	ORPHA:576283
HP:0001600	Abnormality of the larynx	4784	NFIX	OMIM:602535
HP:0001600	Abnormality of the larynx	2263	FGFR2	ORPHA:93260
HP:0001600	Abnormality of the larynx	2263	FGFR2	ORPHA:93259
HP:0001600	Abnormality of the larynx	54496	PRMT7	OMIM:617157
HP:0001600	Abnormality of the larynx	54496	PRMT7	ORPHA:464288
HP:0001600	Abnormality of the larynx	23522	KAT6B	OMIM:606170
HP:0001600	Abnormality of the larynx	5116	PCNT	ORPHA:2637
HP:0001600	Abnormality of the larynx	7994	KAT6A	ORPHA:457193
HP:0001600	Abnormality of the larynx	2581	GALC	ORPHA:206436
HP:0001600	Abnormality of the larynx	5660	PSAP	ORPHA:206436
HP:0001600	Abnormality of the larynx	1312	COMT	ORPHA:567
HP:0001600	Abnormality of the larynx	221037	JMJD1C	ORPHA:567
HP:0001600	Abnormality of the larynx	2812	GP1BB	ORPHA:567
HP:0001600	Abnormality of the larynx	6239	RREB1	ORPHA:567
HP:0001600	Abnormality of the larynx	6899	TBX1	ORPHA:567
HP:0001600	Abnormality of the larynx	7290	HIRA	ORPHA:567
HP:0001600	Abnormality of the larynx	9632	SEC24C	ORPHA:567
HP:0001600	Abnormality of the larynx	7353	UFD1	ORPHA:567
HP:0001600	Abnormality of the larynx	421	ARVCF	ORPHA:567
HP:0001600	Abnormality of the larynx	3778	KCNMA1	OMIM:618729
HP:0001600	Abnormality of the larynx	26123	TCTN3	ORPHA:2753
HP:0001600	Abnormality of the larynx	3339	HSPG2	ORPHA:800
HP:0001600	Abnormality of the larynx	157680	VPS13B	OMIM:216550
HP:0001600	Abnormality of the larynx	3239	HOXD13	ORPHA:887
HP:0001600	Abnormality of the larynx	1513	CTSK	ORPHA:763
HP:0001600	Abnormality of the larynx	529	ATP6V1E1	OMIM:617402
HP:0001600	Abnormality of the larynx	4212	MEIS2	ORPHA:261190
HP:0001600	Abnormality of the larynx	374654	KIF7	ORPHA:2189
HP:0001600	Abnormality of the larynx	51053	GMNN	OMIM:616835
HP:0001600	Abnormality of the larynx	3852	KRT5	ORPHA:79396
HP:0001600	Abnormality of the larynx	3861	KRT14	ORPHA:79396
HP:0001600	Abnormality of the larynx	4000	LMNA	ORPHA:79474
HP:0001600	Abnormality of the larynx	23594	ORC6	OMIM:613803
HP:0001600	Abnormality of the larynx	26040	SETBP1	ORPHA:798
HP:0001600	Abnormality of the larynx	3909	LAMA3	ORPHA:79404
HP:0001600	Abnormality of the larynx	3918	LAMC2	ORPHA:79404
HP:0001600	Abnormality of the larynx	3914	LAMB3	ORPHA:79404
HP:0001600	Abnormality of the larynx	3835	KIF22	ORPHA:93360
HP:0001600	Abnormality of the larynx	55612	FERMT1	ORPHA:2908
HP:0001600	Abnormality of the larynx	2317	FLNB	ORPHA:1190
HP:0001600	Abnormality of the larynx	2317	FLNB	OMIM:108720
HP:0001600	Abnormality of the larynx	65992	DDRGK1	ORPHA:93352
HP:0001600	Abnormality of the larynx	389827	MYMK	ORPHA:1358
HP:0001600	Abnormality of the larynx	101929726	MYMX	ORPHA:1358
HP:0001600	Abnormality of the larynx	27125	AFF4	ORPHA:444077
HP:0001600	Abnormality of the larynx	6926	TBX3	OMIM:181450
HP:0001600	Abnormality of the larynx	341640	FREM2	ORPHA:2052
HP:0001600	Abnormality of the larynx	23426	GRIP1	ORPHA:2052
HP:0001600	Abnormality of the larynx	1062	CENPE	OMIM:616051
HP:0001600	Abnormality of the larynx	79631	EFL1	OMIM:617941
HP:0001600	Abnormality of the larynx	6885	MAP3K7	OMIM:617137
HP:0001600	Abnormality of the larynx	6885	MAP3K7	ORPHA:1826
HP:0001600	Abnormality of the larynx	4087	SMAD2	OMIM:619657
HP:0001600	Abnormality of the larynx	79753	SNIP1	OMIM:614501
HP:0001600	Abnormality of the larynx	2316	FLNA	ORPHA:1826
HP:0001600	Abnormality of the larynx	4796	TONSL	ORPHA:93357
HP:0001600	Abnormality of the larynx	4796	TONSL	OMIM:271510
HP:0001600	Abnormality of the larynx	51199	NIN	ORPHA:319675
HP:0001600	Abnormality of the larynx	4054	LTBP3	OMIM:617809
HP:0001600	Abnormality of the larynx	2137	EXTL3	ORPHA:508533
HP:0001600	Abnormality of the larynx	4089	SMAD4	OMIM:139210
HP:0001600	Abnormality of the larynx	2261	FGFR3	ORPHA:2363
HP:0001600	Abnormality of the larynx	2255	FGF10	ORPHA:2363
HP:0001600	Abnormality of the larynx	139285	AMER1	OMIM:300373
HP:0001600	Abnormality of the larynx	4519	MT-CYB	ORPHA:137675
HP:0001600	Abnormality of the larynx	23498	HAAO	OMIM:617660
HP:0001600	Abnormality of the larynx	80144	FRAS1	OMIM:219000
HP:0001600	Abnormality of the larynx	2972	BRF1	OMIM:616202
HP:0001600	Abnormality of the larynx	2972	BRF1	ORPHA:444072
HP:0001600	Abnormality of the larynx	5354	PLP1	ORPHA:280210
HP:0001600	Abnormality of the larynx	686	BTD	ORPHA:79241
HP:0001600	Abnormality of the larynx	89910	UBE3B	OMIM:244450
HP:0001600	Abnormality of the larynx	6872	TAF1	ORPHA:53351
HP:0001600	Abnormality of the larynx	4256	MGP	OMIM:245150
HP:0001600	Abnormality of the larynx	3845	KRAS	ORPHA:3339
HP:0001600	Abnormality of the larynx	22858	CILK1	OMIM:612651
HP:0001600	Abnormality of the larynx	27152	INTU	OMIM:617925
HP:0001600	Abnormality of the larynx	5396	PRRX1	OMIM:202650
HP:0001600	Abnormality of the larynx	10262	SF3B4	OMIM:154400
HP:0001600	Abnormality of the larynx	219844	HYLS1	OMIM:236680
HP:0001600	Abnormality of the larynx	2187	FANCB	OMIM:314390
HP:0001600	Abnormality of the larynx	7547	ZIC3	OMIM:314390
HP:0001600	Abnormality of the larynx	4281	MID1	ORPHA:2745
HP:0001600	Abnormality of the larynx	4281	MID1	OMIM:300000
HP:0001600	Abnormality of the larynx	6650	CAPN15	OMIM:619318
HP:0001600	Abnormality of the larynx	1906	EDN1	OMIM:615706
HP:0001600	Abnormality of the larynx	55294	FBXW7	OMIM:620012
HP:0001600	Abnormality of the larynx	55023	PHIP	OMIM:617991
HP:0001600	Abnormality of the larynx	6711	SPTBN1	OMIM:619475
HP:0001600	Abnormality of the larynx	1387	CREBBP	ORPHA:353277
HP:0001600	Abnormality of the larynx	1836	SLC26A2	ORPHA:56304
HP:0001600	Abnormality of the larynx	2033	EP300	ORPHA:353284
HP:0001600	Abnormality of the larynx	26005	C2CD3	OMIM:615948
HP:0001600	Abnormality of the larynx	26005	C2CD3	ORPHA:434179
HP:0001600	Abnormality of the larynx	51626	DYNC2LI1	OMIM:617088
HP:0001600	Abnormality of the larynx	9775	EIF4A3	OMIM:268305
HP:0001600	Abnormality of the larynx	3930	LBR	OMIM:215140
HP:0001600	Abnormality of the larynx	415	ARSL	ORPHA:79345
HP:0001600	Abnormality of the larynx	5745	PTH1R	OMIM:215045
HP:0001600	Abnormality of the larynx	9782	MATR3	OMIM:606070
HP:0001600	Abnormality of the larynx	9782	MATR3	ORPHA:600
HP:0001600	Abnormality of the larynx	29967	LRP12	OMIM:164310
HP:0001600	Abnormality of the larynx	10755	GIPC1	ORPHA:98897
HP:0001600	Abnormality of the larynx	100996717	NOTCH2NLC	ORPHA:98897
HP:0001600	Abnormality of the larynx	2737	GLI3	ORPHA:672
HP:0001600	Abnormality of the larynx	2737	GLI3	OMIM:146510
HP:0001600	Abnormality of the larynx	55112	DYNC2I1	ORPHA:93271
HP:0001600	Abnormality of the larynx	57560	IFT80	ORPHA:93271
HP:0001600	Abnormality of the larynx	57539	WDR35	ORPHA:93271
HP:0001600	Abnormality of the larynx	79659	DYNC2H1	ORPHA:93271
HP:0001600	Abnormality of the larynx	89891	DYNC2I2	ORPHA:93271
HP:0001600	Abnormality of the larynx	2304	FOXE1	OMIM:241850
HP:0001600	Abnormality of the larynx	7512	XPNPEP2	ORPHA:100057
HP:0001600	Abnormality of the larynx	5340	PLG	OMIM:619360
HP:0001600	Abnormality of the larynx	710	SERPING1	ORPHA:100050
HP:0001600	Abnormality of the larynx	710	SERPING1	OMIM:106100
HP:0001600	Abnormality of the larynx	64711	HS3ST6	OMIM:619367
HP:0001600	Abnormality of the larynx	2050	EPHB4	ORPHA:90186
HP:0001600	Abnormality of the larynx	4292	MLH1	OMIM:158320
HP:0001600	Abnormality of the larynx	4292	MLH1	ORPHA:587
HP:0001600	Abnormality of the larynx	4436	MSH2	OMIM:158320
HP:0001600	Abnormality of the larynx	4436	MSH2	ORPHA:587
HP:0001600	Abnormality of the larynx	2956	MSH6	ORPHA:587
HP:0001600	Abnormality of the larynx	284654	RSPO1	OMIM:610644
HP:0001600	Abnormality of the larynx	427	ASAH1	ORPHA:333
HP:0001600	Abnormality of the larynx	846	CASR	OMIM:601198
HP:0001600	Abnormality of the larynx	6329	SCN4A	OMIM:608390
HP:0001600	Abnormality of the larynx	6329	SCN4A	ORPHA:99734
HP:0001600	Abnormality of the larynx	7259	TSPYL1	OMIM:608800
HP:0001600	Abnormality of the larynx	25978	CHMP2B	ORPHA:803
HP:0001600	Abnormality of the larynx	3178	HNRNPA1	ORPHA:803
HP:0001600	Abnormality of the larynx	8148	TAF15	ORPHA:803
HP:0001600	Abnormality of the larynx	5445	PON2	ORPHA:803
HP:0001600	Abnormality of the larynx	9217	VAPB	ORPHA:803
HP:0001600	Abnormality of the larynx	8878	SQSTM1	ORPHA:803
HP:0001600	Abnormality of the larynx	5630	PRPH	ORPHA:803
HP:0001600	Abnormality of the larynx	29110	TBK1	ORPHA:803
HP:0001600	Abnormality of the larynx	55830	GLT8D1	ORPHA:803
HP:0001600	Abnormality of the larynx	755	CFAP410	ORPHA:803
HP:0001600	Abnormality of the larynx	10891	PPARGC1A	ORPHA:803
HP:0001600	Abnormality of the larynx	6647	SOD1	ORPHA:803
HP:0001600	Abnormality of the larynx	10133	OPTN	ORPHA:803
HP:0001600	Abnormality of the larynx	1639	DCTN1	ORPHA:803
HP:0001600	Abnormality of the larynx	9896	FIG4	ORPHA:803
HP:0001600	Abnormality of the larynx	5444	PON1	ORPHA:803
HP:0001600	Abnormality of the larynx	5446	PON3	ORPHA:803
HP:0001600	Abnormality of the larynx	4744	NEFH	ORPHA:803
HP:0001600	Abnormality of the larynx	5216	PFN1	ORPHA:803
HP:0001600	Abnormality of the larynx	54209	TREM2	ORPHA:803
HP:0001600	Abnormality of the larynx	7415	VCP	ORPHA:803
HP:0001600	Abnormality of the larynx	283	ANG	ORPHA:803
HP:0001600	Abnormality of the larynx	23435	TARDBP	ORPHA:803
HP:0001600	Abnormality of the larynx	29978	UBQLN2	ORPHA:803
HP:0001600	Abnormality of the larynx	2733	GLE1	ORPHA:803
HP:0001600	Abnormality of the larynx	2521	FUS	ORPHA:803
HP:0001600	Abnormality of the larynx	2043	EPHA4	ORPHA:803
HP:0001600	Abnormality of the larynx	6311	ATXN2	ORPHA:803
HP:0001600	Abnormality of the larynx	1610	DAO	ORPHA:803
HP:0001600	Abnormality of the larynx	2066	ERBB4	ORPHA:803
HP:0001600	Abnormality of the larynx	311	ANXA11	ORPHA:803
HP:0001600	Abnormality of the larynx	23025	UNC13A	ORPHA:803
HP:0001600	Abnormality of the larynx	899	CCNF	ORPHA:803
HP:0001600	Abnormality of the larynx	400916	CHCHD10	ORPHA:803
HP:0001600	Abnormality of the larynx	27286	SRPX2	ORPHA:1945
HP:0001600	Abnormality of the larynx	2903	GRIN2A	ORPHA:1945
HP:0001600	Abnormality of the larynx	2566	GABRG2	ORPHA:1945
HP:0001600	Abnormality of the larynx	22861	NLRP1	OMIM:618803
HP:0001600	Abnormality of the larynx	22861	NLRP1	OMIM:617388
HP:0001600	Abnormality of the larynx	64840	PORCN	OMIM:305600
HP:0001600	Abnormality of the larynx	847	CAT	ORPHA:926
HP:0001600	Abnormality of the larynx	7157	TP53	ORPHA:524
HP:0001600	Abnormality of the larynx	1029	CDKN2A	ORPHA:524
HP:0001600	Abnormality of the larynx	4193	MDM2	ORPHA:524
HP:0001600	Abnormality of the larynx	11200	CHEK2	ORPHA:524
HP:0001600	Abnormality of the larynx	22827	PUF60	ORPHA:508488
HP:0001601	Laryngomalacia	6134	RPL10	OMIM:300998
HP:0001601	Laryngomalacia	6134	RPL10	ORPHA:459070
HP:0001601	Laryngomalacia	6134	RPL10	ORPHA:435938
HP:0001601	Laryngomalacia	5447	POR	OMIM:201750
HP:0001601	Laryngomalacia	8493	PPM1D	OMIM:617450
HP:0001601	Laryngomalacia	104	ADARB1	OMIM:618862
HP:0001601	Laryngomalacia	6477	SIAH1	OMIM:619314
HP:0001601	Laryngomalacia	1387	CREBBP	OMIM:180849
HP:0001601	Laryngomalacia	2033	EP300	OMIM:180849
HP:0001601	Laryngomalacia	8425	LTBP4	OMIM:613177
HP:0001601	Laryngomalacia	6659	SOX4	OMIM:618506
HP:0001601	Laryngomalacia	27125	AFF4	OMIM:616368
HP:0001601	Laryngomalacia	27125	AFF4	ORPHA:444077
HP:0001601	Laryngomalacia	2972	BRF1	OMIM:616202
HP:0001601	Laryngomalacia	2972	BRF1	ORPHA:444072
HP:0001601	Laryngomalacia	9759	HDAC4	ORPHA:1001
HP:0001601	Laryngomalacia	775	CACNA1C	OMIM:620029
HP:0001601	Laryngomalacia	91461	PKDCC	OMIM:618821
HP:0001601	Laryngomalacia	5894	RAF1	OMIM:611553
HP:0001601	Laryngomalacia	4897	NRCAM	OMIM:619833
HP:0001601	Laryngomalacia	79753	SNIP1	OMIM:614501
HP:0001601	Laryngomalacia	7486	WRN	ORPHA:902
HP:0001601	Laryngomalacia	10236	HNRNPR	OMIM:620073
HP:0001601	Laryngomalacia	1303	COL12A1	ORPHA:536516
HP:0001601	Laryngomalacia	6662	SOX9	ORPHA:140
HP:0001601	Laryngomalacia	284058	KANSL1	ORPHA:363965
HP:0001601	Laryngomalacia	284058	KANSL1	ORPHA:363958
HP:0001601	Laryngomalacia	284058	KANSL1	OMIM:610443
HP:0001601	Laryngomalacia	23498	HAAO	OMIM:617660
HP:0001601	Laryngomalacia	374879	ZNF699	OMIM:619488
HP:0001601	Laryngomalacia	91179	SCARF2	OMIM:600920
HP:0001601	Laryngomalacia	6857	SYT1	ORPHA:522077
HP:0001601	Laryngomalacia	3020	H3-3A	OMIM:619720
HP:0001601	Laryngomalacia	253959	RALGAPA1	OMIM:618797
HP:0001601	Laryngomalacia	3021	H3-3B	OMIM:619721
HP:0001601	Laryngomalacia	388015	RTL1	ORPHA:254528
HP:0001601	Laryngomalacia	388015	RTL1	ORPHA:96334
HP:0001601	Laryngomalacia	8788	DLK1	ORPHA:254528
HP:0001601	Laryngomalacia	8788	DLK1	ORPHA:96334
HP:0001601	Laryngomalacia	55384	MEG3	ORPHA:254528
HP:0001601	Laryngomalacia	55384	MEG3	ORPHA:96334
HP:0001601	Laryngomalacia	80816	ASXL3	OMIM:615485
HP:0001601	Laryngomalacia	89910	UBE3B	OMIM:244450
HP:0001601	Laryngomalacia	51506	UFC1	OMIM:618076
HP:0001601	Laryngomalacia	27245	AHDC1	ORPHA:412069
HP:0001601	Laryngomalacia	27245	AHDC1	OMIM:615829
HP:0001601	Laryngomalacia	1841	DTYMK	OMIM:619847
HP:0001601	Laryngomalacia	79631	EFL1	OMIM:617941
HP:0001601	Laryngomalacia	51341	ZBTB7A	OMIM:619769
HP:0001601	Laryngomalacia	55636	CHD7	ORPHA:138
HP:0001601	Laryngomalacia	9723	SEMA3E	ORPHA:138
HP:0001601	Laryngomalacia	11128	POLR3A	ORPHA:3455
HP:0001601	Laryngomalacia	4038	LRP4	ORPHA:3258
HP:0001601	Laryngomalacia	324	APC	ORPHA:3258
HP:0001601	Laryngomalacia	6926	TBX3	ORPHA:3138
HP:0001601	Laryngomalacia	3417	IDH1	ORPHA:99646
HP:0001601	Laryngomalacia	23314	SATB2	ORPHA:576283
HP:0001601	Laryngomalacia	4784	NFIX	OMIM:602535
HP:0001601	Laryngomalacia	2263	FGFR2	ORPHA:93260
HP:0001601	Laryngomalacia	2263	FGFR2	ORPHA:93259
HP:0001601	Laryngomalacia	54496	PRMT7	OMIM:617157
HP:0001601	Laryngomalacia	54496	PRMT7	ORPHA:464288
HP:0001601	Laryngomalacia	23522	KAT6B	OMIM:606170
HP:0001601	Laryngomalacia	5116	PCNT	ORPHA:2637
HP:0001601	Laryngomalacia	7994	KAT6A	ORPHA:457193
HP:0001601	Laryngomalacia	4087	SMAD2	OMIM:619657
HP:0001601	Laryngomalacia	2581	GALC	ORPHA:206436
HP:0001601	Laryngomalacia	5660	PSAP	ORPHA:206436
HP:0001601	Laryngomalacia	1312	COMT	ORPHA:567
HP:0001601	Laryngomalacia	221037	JMJD1C	ORPHA:567
HP:0001601	Laryngomalacia	2812	GP1BB	ORPHA:567
HP:0001601	Laryngomalacia	6239	RREB1	ORPHA:567
HP:0001601	Laryngomalacia	6899	TBX1	ORPHA:567
HP:0001601	Laryngomalacia	7290	HIRA	ORPHA:567
HP:0001601	Laryngomalacia	9632	SEC24C	ORPHA:567
HP:0001601	Laryngomalacia	7353	UFD1	ORPHA:567
HP:0001601	Laryngomalacia	421	ARVCF	ORPHA:567
HP:0001601	Laryngomalacia	3778	KCNMA1	OMIM:618729
HP:0001601	Laryngomalacia	26123	TCTN3	ORPHA:2753
HP:0001601	Laryngomalacia	3339	HSPG2	ORPHA:800
HP:0001601	Laryngomalacia	157680	VPS13B	OMIM:216550
HP:0001601	Laryngomalacia	3239	HOXD13	ORPHA:887
HP:0001601	Laryngomalacia	1513	CTSK	ORPHA:763
HP:0001601	Laryngomalacia	529	ATP6V1E1	OMIM:617402
HP:0001601	Laryngomalacia	4212	MEIS2	ORPHA:261190
HP:0001601	Laryngomalacia	219844	HYLS1	ORPHA:2189
HP:0001601	Laryngomalacia	374654	KIF7	ORPHA:2189
HP:0001601	Laryngomalacia	51053	GMNN	OMIM:616835
HP:0001601	Laryngomalacia	3852	KRT5	ORPHA:79396
HP:0001601	Laryngomalacia	3861	KRT14	ORPHA:79396
HP:0001601	Laryngomalacia	4000	LMNA	ORPHA:79474
HP:0001601	Laryngomalacia	23594	ORC6	OMIM:613803
HP:0001601	Laryngomalacia	26040	SETBP1	ORPHA:798
HP:0001602	Laryngeal stenosis	3909	LAMA3	ORPHA:79404
HP:0001602	Laryngeal stenosis	3918	LAMC2	ORPHA:79404
HP:0001602	Laryngeal stenosis	3914	LAMB3	ORPHA:79404
HP:0001602	Laryngeal stenosis	3835	KIF22	ORPHA:93360
HP:0001602	Laryngeal stenosis	341640	FREM2	ORPHA:2052
HP:0001602	Laryngeal stenosis	80144	FRAS1	ORPHA:2052
HP:0001602	Laryngeal stenosis	80144	FRAS1	OMIM:219000
HP:0001602	Laryngeal stenosis	23426	GRIP1	ORPHA:2052
HP:0001602	Laryngeal stenosis	55612	FERMT1	ORPHA:2908
HP:0001602	Laryngeal stenosis	65992	DDRGK1	ORPHA:93352
HP:0001602	Laryngeal stenosis	389827	MYMK	ORPHA:1358
HP:0001602	Laryngeal stenosis	101929726	MYMX	ORPHA:1358
HP:0001602	Laryngeal stenosis	2137	EXTL3	ORPHA:508533
HP:0001602	Laryngeal stenosis	1836	SLC26A2	OMIM:222600
HP:0001602	Laryngeal stenosis	4089	SMAD4	OMIM:139210
HP:0001602	Laryngeal stenosis	2317	FLNB	ORPHA:1190
HP:0001607	Subglottic stenosis	27125	AFF4	ORPHA:444077
HP:0001607	Subglottic stenosis	6926	TBX3	OMIM:181450
HP:0001607	Subglottic stenosis	341640	FREM2	ORPHA:2052
HP:0001607	Subglottic stenosis	80144	FRAS1	ORPHA:2052
HP:0001607	Subglottic stenosis	80144	FRAS1	OMIM:219000
HP:0001607	Subglottic stenosis	23426	GRIP1	ORPHA:2052
HP:0001607	Subglottic stenosis	10262	SF3B4	OMIM:154400
HP:0001607	Subglottic stenosis	1062	CENPE	OMIM:616051
HP:0001607	Subglottic stenosis	79631	EFL1	OMIM:617941
HP:0001607	Subglottic stenosis	6885	MAP3K7	OMIM:617137
HP:0001607	Subglottic stenosis	6885	MAP3K7	ORPHA:1826
HP:0001607	Subglottic stenosis	4087	SMAD2	OMIM:619657
HP:0001607	Subglottic stenosis	79753	SNIP1	OMIM:614501
HP:0001607	Subglottic stenosis	2316	FLNA	ORPHA:1826
HP:0001607	Subglottic stenosis	4796	TONSL	ORPHA:93357
HP:0001607	Subglottic stenosis	4796	TONSL	OMIM:271510
HP:0001607	Subglottic stenosis	51199	NIN	ORPHA:319675
HP:0001607	Subglottic stenosis	4054	LTBP3	OMIM:617809
HP:0001608	Abnormality of the voice	9361	LONP1	OMIM:600373
HP:0001608	Abnormality of the voice	182	JAG1	OMIM:619574
HP:0001608	Abnormality of the voice	57716	PRX	OMIM:614895
HP:0001608	Abnormality of the voice	79628	SH3TC2	ORPHA:99949
HP:0001608	Abnormality of the voice	10755	GIPC1	ORPHA:98897
HP:0001608	Abnormality of the voice	100996717	NOTCH2NLC	ORPHA:98897
HP:0001608	Abnormality of the voice	7125	TNNC2	OMIM:620161
HP:0001608	Abnormality of the voice	23321	TRIM2	OMIM:615490
HP:0001608	Abnormality of the voice	112	ADCY6	OMIM:616287
HP:0001608	Abnormality of the voice	22943	DKK1	ORPHA:268882
HP:0001608	Abnormality of the voice	816	CAMK2B	OMIM:617799
HP:0001608	Abnormality of the voice	4287	ATXN3	ORPHA:276244
HP:0001608	Abnormality of the voice	4287	ATXN3	ORPHA:276241
HP:0001608	Abnormality of the voice	4287	ATXN3	ORPHA:276238
HP:0001608	Abnormality of the voice	2273	FHL1	ORPHA:98863
HP:0001608	Abnormality of the voice	2010	EMD	ORPHA:98863
HP:0001608	Abnormality of the voice	51112	TRAPPC12	ORPHA:500144
HP:0001608	Abnormality of the voice	374879	ZNF699	OMIM:619488
HP:0001608	Abnormality of the voice	4613	MYCN	OMIM:164280
HP:0001608	Abnormality of the voice	113278	SLC52A3	OMIM:211530
HP:0001608	Abnormality of the voice	26040	SETBP1	ORPHA:798
HP:0001608	Abnormality of the voice	79188	TMEM43	ORPHA:98853
HP:0001608	Abnormality of the voice	23345	SYNE1	ORPHA:98853
HP:0001608	Abnormality of the voice	23224	SYNE2	ORPHA:98853
HP:0001608	Abnormality of the voice	2260	FGFR1	ORPHA:432
HP:0001608	Abnormality of the voice	2260	FGFR1	ORPHA:478
HP:0001608	Abnormality of the voice	81848	SPRY4	ORPHA:432
HP:0001608	Abnormality of the voice	81848	SPRY4	ORPHA:478
HP:0001608	Abnormality of the voice	128674	PROKR2	ORPHA:432
HP:0001608	Abnormality of the voice	128674	PROKR2	ORPHA:478
HP:0001608	Abnormality of the voice	2253	FGF8	ORPHA:432
HP:0001608	Abnormality of the voice	2253	FGF8	ORPHA:478
HP:0001608	Abnormality of the voice	60675	PROK2	ORPHA:432
HP:0001608	Abnormality of the voice	60675	PROK2	ORPHA:478
HP:0001608	Abnormality of the voice	55636	CHD7	ORPHA:432
HP:0001608	Abnormality of the voice	55636	CHD7	ORPHA:478
HP:0001608	Abnormality of the voice	6870	TACR3	ORPHA:432
HP:0001608	Abnormality of the voice	6870	TACR3	ORPHA:478
HP:0001608	Abnormality of the voice	1848	DUSP6	ORPHA:432
HP:0001608	Abnormality of the voice	1848	DUSP6	ORPHA:478
HP:0001608	Abnormality of the voice	26012	NSMF	ORPHA:432
HP:0001608	Abnormality of the voice	55717	WDR11	ORPHA:432
HP:0001608	Abnormality of the voice	55717	WDR11	ORPHA:478
HP:0001608	Abnormality of the voice	9394	HS6ST1	ORPHA:432
HP:0001608	Abnormality of the voice	9394	HS6ST1	ORPHA:478
HP:0001608	Abnormality of the voice	2796	GNRH1	ORPHA:432
HP:0001608	Abnormality of the voice	2798	GNRHR	ORPHA:432
HP:0001608	Abnormality of the voice	84634	KISS1R	ORPHA:432
HP:0001608	Abnormality of the voice	6866	TAC3	ORPHA:432
HP:0001608	Abnormality of the voice	8822	FGF17	ORPHA:432
HP:0001608	Abnormality of the voice	8822	FGF17	ORPHA:478
HP:0001608	Abnormality of the voice	3814	KISS1	ORPHA:432
HP:0001608	Abnormality of the voice	9871	SEC24D	ORPHA:2050
HP:0001608	Abnormality of the voice	5034	P4HB	ORPHA:2050
HP:0001608	Abnormality of the voice	6049	RNF6	ORPHA:99977
HP:0001608	Abnormality of the voice	7048	TGFBR2	ORPHA:99977
HP:0001608	Abnormality of the voice	51741	WWOX	ORPHA:99977
HP:0001608	Abnormality of the voice	9940	DLEC1	ORPHA:99977
HP:0001608	Abnormality of the voice	6329	SCN4A	ORPHA:99735
HP:0001608	Abnormality of the voice	7486	WRN	ORPHA:902
HP:0001608	Abnormality of the voice	148789	B3GALNT2	ORPHA:588
HP:0001608	Abnormality of the voice	29925	GMPPB	ORPHA:588
HP:0001608	Abnormality of the voice	79147	FKRP	ORPHA:588
HP:0001608	Abnormality of the voice	9215	LARGE1	ORPHA:588
HP:0001608	Abnormality of the voice	29954	POMT2	ORPHA:588
HP:0001608	Abnormality of the voice	2218	FKTN	ORPHA:588
HP:0001608	Abnormality of the voice	55624	POMGNT1	ORPHA:588
HP:0001608	Abnormality of the voice	10585	POMT1	ORPHA:588
HP:0001608	Abnormality of the voice	5781	PTPN11	ORPHA:500
HP:0001608	Abnormality of the voice	673	BRAF	ORPHA:500
HP:0001608	Abnormality of the voice	5894	RAF1	ORPHA:500
HP:0001608	Abnormality of the voice	6452	SH3BP2	ORPHA:184
HP:0001608	Abnormality of the voice	6716	SRD5A2	OMIM:264600
HP:0001608	Abnormality of the voice	4089	SMAD4	OMIM:139210
HP:0001608	Abnormality of the voice	51114	ZDHHC9	ORPHA:776
HP:0001608	Abnormality of the voice	65109	UPF3B	ORPHA:776
HP:0001608	Abnormality of the voice	9968	MED12	ORPHA:776
HP:0001608	Abnormality of the voice	4952	OCRL	ORPHA:534
HP:0001608	Abnormality of the voice	5610	EIF2AK2	ORPHA:256
HP:0001608	Abnormality of the voice	1861	TOR1A	ORPHA:256
HP:0001608	Abnormality of the voice	55164	SHQ1	ORPHA:256
HP:0001608	Abnormality of the voice	114548	NLRP3	ORPHA:575
HP:0001608	Abnormality of the voice	5980	REV3L	ORPHA:570
HP:0001608	Abnormality of the voice	23129	PLXND1	ORPHA:570
HP:0001608	Abnormality of the voice	5376	PMP22	ORPHA:640
HP:0001608	Abnormality of the voice	1501	CTNND2	ORPHA:281
HP:0001608	Abnormality of the voice	9037	SEMA5A	ORPHA:281
HP:0001608	Abnormality of the voice	9775	EIF4A3	OMIM:268305
HP:0001608	Abnormality of the voice	4853	NOTCH2	ORPHA:955
HP:0001608	Abnormality of the voice	4000	LMNA	ORPHA:79474
HP:0001608	Abnormality of the voice	10371	SEMA3A	ORPHA:478
HP:0001608	Abnormality of the voice	23767	FLRT3	ORPHA:478
HP:0001608	Abnormality of the voice	79625	NDNF	ORPHA:478
HP:0001608	Abnormality of the voice	389549	FEZF1	ORPHA:478
HP:0001608	Abnormality of the voice	1630	DCC	ORPHA:478
HP:0001608	Abnormality of the voice	3730	ANOS1	ORPHA:478
HP:0001608	Abnormality of the voice	54756	IL17RD	ORPHA:478
HP:0001608	Abnormality of the voice	6663	SOX10	ORPHA:478
HP:0001608	Abnormality of the voice	285025	CCDC141	ORPHA:478
HP:0001608	Abnormality of the voice	8820	HESX1	ORPHA:478
HP:0001608	Abnormality of the voice	65992	DDRGK1	OMIM:602557
HP:0001608	Abnormality of the voice	65992	DDRGK1	ORPHA:93352
HP:0001608	Abnormality of the voice	8036	SHOC2	OMIM:607721
HP:0001608	Abnormality of the voice	3861	KRT14	OMIM:131760
HP:0001608	Abnormality of the voice	3861	KRT14	ORPHA:79396
HP:0001608	Abnormality of the voice	3852	KRT5	OMIM:131760
HP:0001608	Abnormality of the voice	3852	KRT5	ORPHA:79396
HP:0001608	Abnormality of the voice	9782	MATR3	OMIM:606070
HP:0001608	Abnormality of the voice	9782	MATR3	ORPHA:600
HP:0001608	Abnormality of the voice	3909	LAMA3	ORPHA:79404
HP:0001608	Abnormality of the voice	3918	LAMC2	ORPHA:79404
HP:0001608	Abnormality of the voice	3914	LAMB3	ORPHA:79404
HP:0001608	Abnormality of the voice	2334	AFF2	ORPHA:100973
HP:0001608	Abnormality of the voice	2334	AFF2	OMIM:309548
HP:0001608	Abnormality of the voice	79577	CDC73	ORPHA:143
HP:0001608	Abnormality of the voice	4281	MID1	OMIM:300000
HP:0001608	Abnormality of the voice	7200	TRH	OMIM:275120
HP:0001608	Abnormality of the voice	2314	FLII	ORPHA:819
HP:0001608	Abnormality of the voice	23096	IQSEC2	ORPHA:819
HP:0001608	Abnormality of the voice	23096	IQSEC2	ORPHA:217377
HP:0001608	Abnormality of the voice	10743	RAI1	ORPHA:819
HP:0001608	Abnormality of the voice	10743	RAI1	OMIM:182290
HP:0001608	Abnormality of the voice	10522	DEAF1	ORPHA:819
HP:0001608	Abnormality of the voice	3872	KRT17	OMIM:167210
HP:0001608	Abnormality of the voice	3872	KRT17	ORPHA:2309
HP:0001608	Abnormality of the voice	710	SERPING1	ORPHA:100050
HP:0001608	Abnormality of the voice	79158	GNPTAB	OMIM:252500
HP:0001608	Abnormality of the voice	79158	GNPTAB	ORPHA:576
HP:0001608	Abnormality of the voice	176	ACAN	OMIM:612813
HP:0001608	Abnormality of the voice	176	ACAN	ORPHA:171866
HP:0001608	Abnormality of the voice	7252	TSHB	ORPHA:90674
HP:0001608	Abnormality of the voice	54332	GDAP1	OMIM:607706
HP:0001608	Abnormality of the voice	54332	GDAP1	ORPHA:101097
HP:0001608	Abnormality of the voice	54332	GDAP1	ORPHA:99948
HP:0001608	Abnormality of the voice	57492	ARID1B	OMIM:135900
HP:0001608	Abnormality of the voice	10560	SLC19A2	OMIM:249270
HP:0001608	Abnormality of the voice	5530	PPP3CA	OMIM:617711
HP:0001608	Abnormality of the voice	22861	NLRP1	OMIM:618803
HP:0001608	Abnormality of the voice	3423	IDS	ORPHA:217085
HP:0001608	Abnormality of the voice	3423	IDS	ORPHA:217093
HP:0001608	Abnormality of the voice	3423	IDS	OMIM:309900
HP:0001608	Abnormality of the voice	2200	FBN1	ORPHA:969
HP:0001608	Abnormality of the voice	2200	FBN1	OMIM:102370
HP:0001608	Abnormality of the voice	4054	LTBP3	ORPHA:969
HP:0001608	Abnormality of the voice	4054	LTBP3	OMIM:617809
HP:0001608	Abnormality of the voice	83550	GPR101	ORPHA:963
HP:0001608	Abnormality of the voice	9049	AIP	ORPHA:963
HP:0001608	Abnormality of the voice	23111	SPART	ORPHA:101000
HP:0001608	Abnormality of the voice	57190	SELENON	ORPHA:2020
HP:0001608	Abnormality of the voice	58	ACTA1	ORPHA:2020
HP:0001608	Abnormality of the voice	4633	MYL2	ORPHA:2020
HP:0001608	Abnormality of the voice	3679	ITGA7	ORPHA:2020
HP:0001608	Abnormality of the voice	7169	TPM2	ORPHA:2020
HP:0001608	Abnormality of the voice	9200	HACD1	ORPHA:2020
HP:0001608	Abnormality of the voice	7170	TPM3	ORPHA:2020
HP:0001608	Abnormality of the voice	51776	MAP3K20	ORPHA:2020
HP:0001608	Abnormality of the voice	3977	LIFR	OMIM:601559
HP:0001608	Abnormality of the voice	7067	THRA	OMIM:614450
HP:0001608	Abnormality of the voice	175	AGA	OMIM:208400
HP:0001608	Abnormality of the voice	3265	HRAS	OMIM:218040
HP:0001608	Abnormality of the voice	3868	KRT16	ORPHA:2309
HP:0001608	Abnormality of the voice	3853	KRT6A	ORPHA:2309
HP:0001608	Abnormality of the voice	3854	KRT6B	ORPHA:2309
HP:0001608	Abnormality of the voice	2239	GPC4	ORPHA:2662
HP:0001608	Abnormality of the voice	2239	GPC4	ORPHA:373
HP:0001608	Abnormality of the voice	79784	MYH14	ORPHA:397744
HP:0001608	Abnormality of the voice	79784	MYH14	OMIM:614369
HP:0001608	Abnormality of the voice	6711	SPTBN1	OMIM:619475
HP:0001608	Abnormality of the voice	715	C1R	OMIM:130080
HP:0001608	Abnormality of the voice	1836	SLC26A2	OMIM:222600
HP:0001608	Abnormality of the voice	5594	MAPK1	OMIM:619087
HP:0001608	Abnormality of the voice	4780	NFE2L2	OMIM:617744
HP:0001608	Abnormality of the voice	1893	ECM1	ORPHA:530
HP:0001608	Abnormality of the voice	1893	ECM1	OMIM:247100
HP:0001608	Abnormality of the voice	2719	GPC3	ORPHA:373
HP:0001608	Abnormality of the voice	6611	SMS	OMIM:309583
HP:0001608	Abnormality of the voice	5449	POU1F1	OMIM:613038
HP:0001608	Abnormality of the voice	10020	GNE	ORPHA:3166
HP:0001608	Abnormality of the voice	23592	LEMD3	ORPHA:1306
HP:0001608	Abnormality of the voice	23592	LEMD3	OMIM:166700
HP:0001608	Abnormality of the voice	7201	TRHR	ORPHA:99832
HP:0001608	Abnormality of the voice	64324	NSD1	ORPHA:3447
HP:0001608	Abnormality of the voice	8726	EED	ORPHA:3447
HP:0001608	Abnormality of the voice	23512	SUZ12	ORPHA:3447
HP:0001608	Abnormality of the voice	2146	EZH2	ORPHA:3447
HP:0001608	Abnormality of the voice	11011	TLK2	OMIM:618050
HP:0001608	Abnormality of the voice	2316	FLNA	OMIM:309350
HP:0001608	Abnormality of the voice	10535	RNASEH2A	ORPHA:51
HP:0001608	Abnormality of the voice	84153	RNASEH2C	ORPHA:51
HP:0001608	Abnormality of the voice	25939	SAMHD1	ORPHA:51
HP:0001608	Abnormality of the voice	79621	RNASEH2B	ORPHA:51
HP:0001608	Abnormality of the voice	103	ADAR	ORPHA:51
HP:0001608	Abnormality of the voice	11277	TREX1	ORPHA:51
HP:0001608	Abnormality of the voice	100147744	RNU7-1	ORPHA:51
HP:0001608	Abnormality of the voice	134353	LSM11	ORPHA:51
HP:0001608	Abnormality of the voice	64135	IFIH1	ORPHA:51
HP:0001608	Abnormality of the voice	59341	TRPV4	OMIM:181405
HP:0001608	Abnormality of the voice	353116	RILPL1	OMIM:619790
HP:0001608	Abnormality of the voice	4621	MYH3	ORPHA:2053
HP:0001608	Abnormality of the voice	4621	MYH3	OMIM:193700
HP:0001608	Abnormality of the voice	259232	NALCN	ORPHA:2053
HP:0001608	Abnormality of the voice	6628	SNRPB	OMIM:117650
HP:0001608	Abnormality of the voice	4593	MUSK	OMIM:616325
HP:0001608	Abnormality of the voice	84617	TUBB6	OMIM:617732
HP:0001608	Abnormality of the voice	57863	CADM3	OMIM:619519
HP:0001608	Abnormality of the voice	29926	GMPPA	OMIM:615510
HP:0001608	Abnormality of the voice	79912	PYROXD1	OMIM:617258
HP:0001608	Abnormality of the voice	6418	SET	OMIM:618106
HP:0001608	Abnormality of the voice	6899	TBX1	ORPHA:1727
HP:0001608	Abnormality of the voice	6899	TBX1	OMIM:192430
HP:0001608	Abnormality of the voice	6899	TBX1	ORPHA:567
HP:0001608	Abnormality of the voice	6899	TBX1	OMIM:188400
HP:0001608	Abnormality of the voice	6571	SLC18A2	ORPHA:352649
HP:0001608	Abnormality of the voice	6571	SLC18A2	OMIM:618049
HP:0001608	Abnormality of the voice	7681	MKRN3	OMIM:176270
HP:0001608	Abnormality of the voice	3653	IPW	OMIM:176270
HP:0001608	Abnormality of the voice	791114	PWRN1	OMIM:176270
HP:0001608	Abnormality of the voice	100033413	SNORD116-1	OMIM:176270
HP:0001608	Abnormality of the voice	8924	HERC2	OMIM:176270
HP:0001608	Abnormality of the voice	145624	PWAR1	OMIM:176270
HP:0001608	Abnormality of the voice	23742	NPAP1	OMIM:176270
HP:0001608	Abnormality of the voice	338433	SNORD115-1	OMIM:176270
HP:0001608	Abnormality of the voice	5339	PLEC	ORPHA:254361
HP:0001608	Abnormality of the voice	6687	SPG7	ORPHA:99013
HP:0001608	Abnormality of the voice	84466	MEGF10	OMIM:614399
HP:0001608	Abnormality of the voice	23261	CAMTA1	OMIM:614756
HP:0001608	Abnormality of the voice	10472	ZBTB18	OMIM:612337
HP:0001608	Abnormality of the voice	10847	SRCAP	ORPHA:2044
HP:0001608	Abnormality of the voice	9993	DGCR2	OMIM:192430
HP:0001608	Abnormality of the voice	8220	ESS2	OMIM:192430
HP:0001608	Abnormality of the voice	8214	DGCR6	OMIM:192430
HP:0001608	Abnormality of the voice	54487	DGCR8	OMIM:192430
HP:0001608	Abnormality of the voice	6519	SLC3A1	ORPHA:163690
HP:0001608	Abnormality of the voice	6519	SLC3A1	ORPHA:163693
HP:0001608	Abnormality of the voice	9581	PREPL	ORPHA:163690
HP:0001608	Abnormality of the voice	9581	PREPL	ORPHA:163693
HP:0001608	Abnormality of the voice	9499	MYOT	ORPHA:98911
HP:0001608	Abnormality of the voice	8106	PABPN1	OMIM:164300
HP:0001608	Abnormality of the voice	5495	PPM1B	ORPHA:163693
HP:0001608	Abnormality of the voice	79823	CAMKMT	ORPHA:163693
HP:0001608	Abnormality of the voice	139285	AMER1	OMIM:300373
HP:0001608	Abnormality of the voice	10084	PQBP1	OMIM:309500
HP:0001608	Abnormality of the voice	4256	MGP	OMIM:245150
HP:0001608	Abnormality of the voice	84665	MYPN	ORPHA:171881
HP:0001608	Abnormality of the voice	146862	UNC45B	OMIM:619178
HP:0001608	Abnormality of the voice	23545	ATP6V0A2	ORPHA:2834
HP:0001608	Abnormality of the voice	23545	ATP6V0A2	OMIM:278250
HP:0001608	Abnormality of the voice	5116	PCNT	ORPHA:2637
HP:0001608	Abnormality of the voice	284058	KANSL1	OMIM:610443
HP:0001608	Abnormality of the voice	1312	COMT	ORPHA:567
HP:0001608	Abnormality of the voice	221037	JMJD1C	ORPHA:567
HP:0001608	Abnormality of the voice	2812	GP1BB	ORPHA:567
HP:0001608	Abnormality of the voice	6239	RREB1	ORPHA:567
HP:0001608	Abnormality of the voice	7290	HIRA	ORPHA:567
HP:0001608	Abnormality of the voice	9632	SEC24C	ORPHA:567
HP:0001608	Abnormality of the voice	7353	UFD1	ORPHA:567
HP:0001608	Abnormality of the voice	421	ARVCF	ORPHA:567
HP:0001608	Abnormality of the voice	4848	CNOT2	OMIM:618608
HP:0001608	Abnormality of the voice	23133	PHF8	OMIM:300263
HP:0001608	Abnormality of the voice	7020	TFAP2A	OMIM:113620
HP:0001608	Abnormality of the voice	7020	TFAP2A	ORPHA:1297
HP:0001608	Abnormality of the voice	1781	DYNC1I2	OMIM:618492
HP:0001608	Abnormality of the voice	11141	IL1RAPL1	OMIM:300143
HP:0001608	Abnormality of the voice	10533	ATG7	OMIM:619422
HP:0001608	Abnormality of the voice	101929726	MYMX	OMIM:619941
HP:0001608	Abnormality of the voice	9731	CEP104	OMIM:619988
HP:0001608	Abnormality of the voice	9531	BAG3	OMIM:612954
HP:0001608	Abnormality of the voice	9244	CRLF1	OMIM:272430
HP:0001608	Abnormality of the voice	2673	GFPT1	OMIM:608931
HP:0001608	Abnormality of the voice	1145	CHRNE	OMIM:608931
HP:0001608	Abnormality of the voice	1145	CHRNE	OMIM:605809
HP:0001608	Abnormality of the voice	4728	NDUFS8	OMIM:618222
HP:0001608	Abnormality of the voice	5913	RAPSN	OMIM:618388
HP:0001608	Abnormality of the voice	5913	RAPSN	OMIM:616326
HP:0001608	Abnormality of the voice	1144	CHRND	OMIM:616322
HP:0001608	Abnormality of the voice	57128	LYRM4	OMIM:615595
HP:0001608	Abnormality of the voice	5393	EXOSC9	OMIM:618065
HP:0001608	Abnormality of the voice	9453	GGPS1	OMIM:619518
HP:0001608	Abnormality of the voice	1134	CHRNA1	OMIM:608930
HP:0001608	Abnormality of the voice	546	ATRX	OMIM:301040
HP:0001608	Abnormality of the voice	4976	OPA1	OMIM:616896
HP:0001608	Abnormality of the voice	6492	SIM1	ORPHA:398079
HP:0001608	Abnormality of the voice	8292	COLQ	ORPHA:98915
HP:0001608	Abnormality of the voice	8292	COLQ	OMIM:603034
HP:0001608	Abnormality of the voice	3913	LAMB2	ORPHA:98915
HP:0001608	Abnormality of the voice	3508	IGHMBP2	OMIM:604320
HP:0001608	Abnormality of the voice	443	ASPA	ORPHA:314911
HP:0001608	Abnormality of the voice	3908	LAMA2	ORPHA:258
HP:0001608	Abnormality of the voice	79068	FTO	OMIM:612938
HP:0001608	Abnormality of the voice	79989	IFT56	OMIM:619534
HP:0001608	Abnormality of the voice	25836	NIPBL	OMIM:122470
HP:0001608	Abnormality of the voice	5824	PEX19	OMIM:614886
HP:0001608	Abnormality of the voice	129285	PPP1R21	OMIM:619383
HP:0001608	Abnormality of the voice	7317	UBA1	OMIM:301830
HP:0001608	Abnormality of the voice	57017	COQ9	OMIM:614654
HP:0001608	Abnormality of the voice	7407	VARS1	OMIM:617802
HP:0001608	Abnormality of the voice	9325	TRIP4	ORPHA:486815
HP:0001608	Abnormality of the voice	8085	KMT2D	OMIM:147920
HP:0001608	Abnormality of the voice	7403	KDM6A	OMIM:147920
HP:0001608	Abnormality of the voice	7849	PAX8	OMIM:218700
HP:0001608	Abnormality of the voice	23556	PIGN	ORPHA:280633
HP:0001608	Abnormality of the voice	8425	LTBP4	OMIM:613177
HP:0001608	Abnormality of the voice	50506	DUOX2	ORPHA:226316
HP:0001608	Abnormality of the voice	388015	RTL1	ORPHA:96334
HP:0001608	Abnormality of the voice	8788	DLK1	ORPHA:96334
HP:0001608	Abnormality of the voice	55384	MEG3	ORPHA:96334
HP:0001608	Abnormality of the voice	25792	CIZ1	ORPHA:420492
HP:0001608	Abnormality of the voice	274	BIN1	ORPHA:169186
HP:0001608	Abnormality of the voice	274	BIN1	OMIM:255200
HP:0001608	Abnormality of the voice	10290	SPEG	ORPHA:169186
HP:0001608	Abnormality of the voice	6261	RYR1	ORPHA:169186
HP:0001608	Abnormality of the voice	7273	TTN	ORPHA:169186
HP:0001608	Abnormality of the voice	54902	TTC19	OMIM:615157
HP:0001608	Abnormality of the voice	1410	CRYAB	ORPHA:399058
HP:0001608	Abnormality of the voice	7428	VHL	ORPHA:29072
HP:0001608	Abnormality of the voice	7428	VHL	ORPHA:276621
HP:0001608	Abnormality of the voice	1743	DLST	ORPHA:29072
HP:0001608	Abnormality of the voice	4191	MDH2	ORPHA:29072
HP:0001608	Abnormality of the voice	5979	RET	ORPHA:29072
HP:0001608	Abnormality of the voice	5979	RET	ORPHA:276621
HP:0001608	Abnormality of the voice	6389	SDHA	ORPHA:29072
HP:0001608	Abnormality of the voice	23095	KIF1B	ORPHA:29072
HP:0001608	Abnormality of the voice	2271	FH	ORPHA:29072
HP:0001608	Abnormality of the voice	8402	SLC25A11	ORPHA:29072
HP:0001608	Abnormality of the voice	54949	SDHAF2	ORPHA:29072
HP:0001608	Abnormality of the voice	55654	TMEM127	ORPHA:29072
HP:0001608	Abnormality of the voice	4763	NF1	ORPHA:29072
HP:0001608	Abnormality of the voice	6391	SDHC	ORPHA:29072
HP:0001608	Abnormality of the voice	6392	SDHD	ORPHA:29072
HP:0001608	Abnormality of the voice	6392	SDHD	ORPHA:276621
HP:0001608	Abnormality of the voice	6390	SDHB	ORPHA:29072
HP:0001608	Abnormality of the voice	6390	SDHB	ORPHA:276621
HP:0001608	Abnormality of the voice	4149	MAX	ORPHA:29072
HP:0001608	Abnormality of the voice	6804	STX1A	ORPHA:904
HP:0001608	Abnormality of the voice	7461	CLIP2	ORPHA:904
HP:0001608	Abnormality of the voice	84277	DNAJC30	ORPHA:904
HP:0001608	Abnormality of the voice	8468	FKBP6	ORPHA:904
HP:0001608	Abnormality of the voice	5982	RFC2	ORPHA:904
HP:0001608	Abnormality of the voice	2969	GTF2I	ORPHA:904
HP:0001608	Abnormality of the voice	3984	LIMK1	ORPHA:904
HP:0001608	Abnormality of the voice	9569	GTF2IRD1	ORPHA:904
HP:0001608	Abnormality of the voice	155382	VPS37D	ORPHA:904
HP:0001608	Abnormality of the voice	155368	METTL27	ORPHA:904
HP:0001608	Abnormality of the voice	114049	BUD23	ORPHA:904
HP:0001608	Abnormality of the voice	7458	EIF4H	ORPHA:904
HP:0001608	Abnormality of the voice	84163	GTF2IRD2	ORPHA:904
HP:0001608	Abnormality of the voice	9275	BCL7B	ORPHA:904
HP:0001608	Abnormality of the voice	26608	TBL2	ORPHA:904
HP:0001608	Abnormality of the voice	653361	NCF1	ORPHA:904
HP:0001608	Abnormality of the voice	135886	TMEM270	ORPHA:904
HP:0001608	Abnormality of the voice	51085	MLXIPL	ORPHA:904
HP:0001608	Abnormality of the voice	9031	BAZ1B	ORPHA:904
HP:0001608	Abnormality of the voice	2006	ELN	ORPHA:904
HP:0001608	Abnormality of the voice	6650	CAPN15	OMIM:619318
HP:0001608	Abnormality of the voice	27235	COQ2	ORPHA:227510
HP:0001608	Abnormality of the voice	5428	POLG	OMIM:258450
HP:0001608	Abnormality of the voice	80025	PANK2	OMIM:234200
HP:0001608	Abnormality of the voice	4758	NEU1	ORPHA:93399
HP:0001608	Abnormality of the voice	92667	MGME1	ORPHA:352447
HP:0001608	Abnormality of the voice	92667	MGME1	OMIM:615084
HP:0001608	Abnormality of the voice	60482	SLC5A7	OMIM:617143
HP:0001608	Abnormality of the voice	60482	SLC5A7	ORPHA:98914
HP:0001608	Abnormality of the voice	2670	GFAP	ORPHA:363722
HP:0001608	Abnormality of the voice	4649	MYO9A	ORPHA:98914
HP:0001608	Abnormality of the voice	1305	COL13A1	ORPHA:98914
HP:0001608	Abnormality of the voice	1103	CHAT	ORPHA:98914
HP:0001608	Abnormality of the voice	6576	SLC25A1	ORPHA:98914
HP:0001608	Abnormality of the voice	6843	VAMP1	ORPHA:98914
HP:0001608	Abnormality of the voice	375790	AGRN	ORPHA:98914
HP:0001608	Abnormality of the voice	127833	SYT2	ORPHA:98914
HP:0001608	Abnormality of the voice	6572	SLC18A3	ORPHA:98914
HP:0001608	Abnormality of the voice	6616	SNAP25	ORPHA:98914
HP:0001608	Abnormality of the voice	427	ASAH1	ORPHA:333
HP:0001608	Abnormality of the voice	1896	EDA	OMIM:305100
HP:0001608	Abnormality of the voice	1716	DGUOK	OMIM:617070
HP:0001608	Abnormality of the voice	1716	DGUOK	ORPHA:329314
HP:0001608	Abnormality of the voice	3300	DNAJB2	OMIM:614881
HP:0001608	Abnormality of the voice	50484	RRM2B	OMIM:613077
HP:0001608	Abnormality of the voice	1788	DNMT3A	ORPHA:276621
HP:0001608	Abnormality of the voice	2034	EPAS1	ORPHA:276621
HP:0001608	Abnormality of the voice	81846	SBF2	ORPHA:99956
HP:0001608	Abnormality of the voice	404672	GTF2H5	ORPHA:33364
HP:0001608	Abnormality of the voice	833	CARS1	ORPHA:33364
HP:0001608	Abnormality of the voice	2068	ERCC2	ORPHA:33364
HP:0001608	Abnormality of the voice	7737	RNF113A	ORPHA:33364
HP:0001608	Abnormality of the voice	136647	MPLKIP	ORPHA:33364
HP:0001608	Abnormality of the voice	6897	TARS1	ORPHA:33364
HP:0001608	Abnormality of the voice	2071	ERCC3	ORPHA:33364
HP:0001608	Abnormality of the voice	2961	GTF2E2	ORPHA:33364
HP:0001608	Abnormality of the voice	29967	LRP12	OMIM:164310
HP:0001608	Abnormality of the voice	3339	HSPG2	ORPHA:800
HP:0001608	Abnormality of the voice	56652	TWNK	OMIM:609286
HP:0001608	Abnormality of the voice	3098	HK1	OMIM:605285
HP:0001608	Abnormality of the voice	367	AR	ORPHA:481
HP:0001608	Abnormality of the voice	51305	KCNK9	ORPHA:166108
HP:0001608	Abnormality of the voice	246243	RNASEH1	OMIM:616479
HP:0001608	Abnormality of the voice	80199	FUZ	ORPHA:1136
HP:0001608	Abnormality of the voice	27010	TPK1	OMIM:614458
HP:0001608	Abnormality of the voice	64374	SIL1	ORPHA:559
HP:0001608	Abnormality of the voice	51763	INPP5K	ORPHA:559
HP:0001608	Abnormality of the voice	9927	MFN2	ORPHA:99947
HP:0001608	Abnormality of the voice	9829	DNAJC6	ORPHA:391411
HP:0001608	Abnormality of the voice	5420	PODXL	ORPHA:391411
HP:0001608	Abnormality of the voice	8867	SYNJ1	ORPHA:391411
HP:0001608	Abnormality of the voice	8867	SYNJ1	OMIM:615530
HP:0001608	Abnormality of the voice	2617	GARS1	OMIM:619042
HP:0001608	Abnormality of the voice	7084	TK2	ORPHA:254886
HP:0001608	Abnormality of the voice	84909	AOPEP	OMIM:619565
HP:0001608	Abnormality of the voice	4591	TRIM37	OMIM:253250
HP:0001608	Abnormality of the voice	2747	GLUD2	OMIM:168600
HP:0001608	Abnormality of the voice	126	ADH1C	OMIM:168600
HP:0001608	Abnormality of the voice	2629	GBA1	OMIM:168600
HP:0001608	Abnormality of the voice	4929	NR4A2	OMIM:168600
HP:0001608	Abnormality of the voice	6908	TBP	OMIM:168600
HP:0001608	Abnormality of the voice	4576	MT-TT	OMIM:168600
HP:0001608	Abnormality of the voice	9627	SNCAIP	OMIM:168600
HP:0001608	Abnormality of the voice	6311	ATXN2	OMIM:168600
HP:0001608	Abnormality of the voice	6315	ATXN8OS	OMIM:168600
HP:0001608	Abnormality of the voice	4796	TONSL	ORPHA:93357
HP:0001608	Abnormality of the voice	10159	ATP6AP2	ORPHA:93952
HP:0001608	Abnormality of the voice	343641	TGM6	OMIM:613908
HP:0001608	Abnormality of the voice	343641	TGM6	ORPHA:276193
HP:0001608	Abnormality of the voice	5654	HTRA1	ORPHA:199354
HP:0001608	Abnormality of the voice	4841	NONO	ORPHA:466791
HP:0001608	Abnormality of the voice	5917	RARS1	OMIM:616140
HP:0001608	Abnormality of the voice	5917	RARS1	ORPHA:438114
HP:0001608	Abnormality of the voice	5832	ALDH18A1	OMIM:616586
HP:0001608	Abnormality of the voice	1593	CYP27A1	OMIM:213700
HP:0001608	Abnormality of the voice	9289	ADGRG1	ORPHA:98889
HP:0001608	Abnormality of the voice	5297	PI4KA	ORPHA:98889
HP:0001608	Abnormality of the voice	57679	ALS2	OMIM:606353
HP:0001608	Abnormality of the voice	4001	LMNB1	OMIM:169500
HP:0001608	Abnormality of the voice	2583	B4GALNT1	ORPHA:101006
HP:0001608	Abnormality of the voice	116150	NUS1	OMIM:617082
HP:0001608	Abnormality of the voice	22872	SEC31A	OMIM:618651
HP:0001608	Abnormality of the voice	23503	ZFYVE26	ORPHA:100996
HP:0001608	Abnormality of the voice	60	ACTB	OMIM:607371
HP:0001608	Abnormality of the voice	6647	SOD1	OMIM:105400
HP:0001608	Abnormality of the voice	5630	PRPH	OMIM:105400
HP:0001608	Abnormality of the voice	1639	DCTN1	OMIM:105400
HP:0001608	Abnormality of the voice	4744	NEFH	OMIM:105400
HP:0001608	Abnormality of the voice	3145	HMBS	ORPHA:79276
HP:0001608	Abnormality of the voice	4854	NOTCH3	OMIM:125310
HP:0001608	Abnormality of the voice	5422	POLA1	OMIM:301030
HP:0001608	Abnormality of the voice	2592	GALT	ORPHA:79239
HP:0001608	Abnormality of the voice	3064	HTT	ORPHA:399
HP:0001608	Abnormality of the voice	6515	SLC2A3	ORPHA:399
HP:0001608	Abnormality of the voice	4487	MSX1	ORPHA:141291
HP:0001608	Abnormality of the voice	4487	MSX1	ORPHA:199302
HP:0001608	Abnormality of the voice	4487	MSX1	ORPHA:199306
HP:0001608	Abnormality of the voice	5818	NECTIN1	ORPHA:141291
HP:0001608	Abnormality of the voice	5818	NECTIN1	ORPHA:199302
HP:0001608	Abnormality of the voice	5818	NECTIN1	ORPHA:199306
HP:0001608	Abnormality of the voice	8626	TP63	ORPHA:141291
HP:0001608	Abnormality of the voice	8626	TP63	ORPHA:199302
HP:0001608	Abnormality of the voice	8626	TP63	ORPHA:199306
HP:0001608	Abnormality of the voice	3664	IRF6	ORPHA:141291
HP:0001608	Abnormality of the voice	3664	IRF6	ORPHA:199302
HP:0001608	Abnormality of the voice	3664	IRF6	ORPHA:199306
HP:0001608	Abnormality of the voice	6638	SNRPN	ORPHA:177904
HP:0001608	Abnormality of the voice	6638	SNRPN	ORPHA:177901
HP:0001608	Abnormality of the voice	4692	NDN	ORPHA:177904
HP:0001608	Abnormality of the voice	4692	NDN	ORPHA:177901
HP:0001608	Abnormality of the voice	54551	MAGEL2	ORPHA:177904
HP:0001608	Abnormality of the voice	54551	MAGEL2	ORPHA:177901
HP:0001608	Abnormality of the voice	4948	OCA2	ORPHA:177904
HP:0001608	Abnormality of the voice	4948	OCA2	ORPHA:177901
HP:0001608	Abnormality of the voice	10735	STAG2	ORPHA:521258
HP:0001608	Abnormality of the voice	5332	PLCB4	OMIM:614669
HP:0001608	Abnormality of the voice	4137	MAPT	ORPHA:240112
HP:0001608	Abnormality of the voice	4137	MAPT	ORPHA:240103
HP:0001608	Abnormality of the voice	23732	FRRS1L	ORPHA:725
HP:0001608	Abnormality of the voice	2903	GRIN2A	ORPHA:725
HP:0001608	Abnormality of the voice	2903	GRIN2A	ORPHA:1945
HP:0001608	Abnormality of the voice	2903	GRIN2A	ORPHA:98818
HP:0001608	Abnormality of the voice	8659	ALDH4A1	ORPHA:79101
HP:0001608	Abnormality of the voice	27286	SRPX2	ORPHA:1945
HP:0001608	Abnormality of the voice	2566	GABRG2	ORPHA:1945
HP:0001608	Abnormality of the voice	7314	UBB	ORPHA:99772
HP:0001608	Abnormality of the voice	57822	GRHL3	ORPHA:99772
HP:0001608	Abnormality of the voice	25970	SH2B1	ORPHA:261197
HP:0001608	Abnormality of the voice	27086	FOXP1	ORPHA:391372
HP:0001608	Abnormality of the voice	1739	DLG1	ORPHA:199306
HP:0001608	Abnormality of the voice	652	BMP4	ORPHA:199306
HP:0001608	Abnormality of the voice	999	CDH1	ORPHA:199306
HP:0001608	Abnormality of the voice	5156	PDGFRA	ORPHA:199306
HP:0001608	Abnormality of the voice	9411	ARHGAP29	ORPHA:199306
HP:0001608	Abnormality of the voice	2773	GNAI3	OMIM:602483
HP:0001608	Abnormality of the voice	2512	FTL	OMIM:606159
HP:0001608	Abnormality of the voice	2774	GNAL	OMIM:615073
HP:0001608	Abnormality of the voice	2774	GNAL	ORPHA:329466
HP:0001608	Abnormality of the voice	8575	PRKRA	OMIM:612067
HP:0001608	Abnormality of the voice	10382	TUBB4A	ORPHA:98805
HP:0001608	Abnormality of the voice	55145	THAP1	ORPHA:98806
HP:0001608	Abnormality of the voice	55145	THAP1	OMIM:602629
HP:0001608	Abnormality of the voice	55823	VPS11	OMIM:619637
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:94089
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:79443
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:79444
HP:0001608	Abnormality of the voice	8675	STX16	ORPHA:94089
HP:0001608	Abnormality of the voice	9757	KMT2B	OMIM:617284
HP:0001608	Abnormality of the voice	518	ATP5MC3	OMIM:619681
HP:0001608	Abnormality of the voice	79734	KCTD17	OMIM:616398
HP:0001608	Abnormality of the voice	1293	COL6A3	OMIM:616411
HP:0001608	Abnormality of the voice	1293	COL6A3	ORPHA:464440
HP:0001608	Abnormality of the voice	23230	VPS13A	ORPHA:2388
HP:0001608	Abnormality of the voice	23498	HAAO	OMIM:617660
HP:0001608	Abnormality of the voice	667	DST	OMIM:614653
HP:0001608	Abnormality of the voice	7253	TSHR	ORPHA:90673
HP:0001608	Abnormality of the voice	9896	FIG4	OMIM:216340
HP:0001608	Abnormality of the voice	478	ATP1A3	OMIM:619606
HP:0001608	Abnormality of the voice	55163	PNPO	ORPHA:79096
HP:0001608	Abnormality of the voice	498	ATP5F1A	OMIM:615228
HP:0001608	Abnormality of the voice	249	ALPL	OMIM:241500
HP:0001608	Abnormality of the voice	18	ABAT	OMIM:613163
HP:0001608	Abnormality of the voice	4204	MECP2	ORPHA:778
HP:0001608	Abnormality of the voice	7259	TSPYL1	OMIM:608800
HP:0001608	Abnormality of the voice	1748	DLX4	OMIM:616788
HP:0001608	Abnormality of the voice	23102	TBC1D2B	ORPHA:397973
HP:0001608	Abnormality of the voice	157680	VPS13B	ORPHA:193
HP:0001609	Hoarse voice	65992	DDRGK1	OMIM:602557
HP:0001609	Hoarse voice	65992	DDRGK1	ORPHA:93352
HP:0001609	Hoarse voice	8036	SHOC2	OMIM:607721
HP:0001609	Hoarse voice	3861	KRT14	OMIM:131760
HP:0001609	Hoarse voice	3861	KRT14	ORPHA:79396
HP:0001609	Hoarse voice	3852	KRT5	OMIM:131760
HP:0001609	Hoarse voice	3852	KRT5	ORPHA:79396
HP:0001609	Hoarse voice	9782	MATR3	OMIM:606070
HP:0001609	Hoarse voice	9782	MATR3	ORPHA:600
HP:0001609	Hoarse voice	3909	LAMA3	ORPHA:79404
HP:0001609	Hoarse voice	3918	LAMC2	ORPHA:79404
HP:0001609	Hoarse voice	3914	LAMB3	ORPHA:79404
HP:0001609	Hoarse voice	2334	AFF2	ORPHA:100973
HP:0001609	Hoarse voice	2334	AFF2	OMIM:309548
HP:0001609	Hoarse voice	79577	CDC73	ORPHA:143
HP:0001609	Hoarse voice	4281	MID1	OMIM:300000
HP:0001609	Hoarse voice	7200	TRH	OMIM:275120
HP:0001609	Hoarse voice	2314	FLII	ORPHA:819
HP:0001609	Hoarse voice	23096	IQSEC2	ORPHA:819
HP:0001609	Hoarse voice	23096	IQSEC2	ORPHA:217377
HP:0001609	Hoarse voice	10743	RAI1	ORPHA:819
HP:0001609	Hoarse voice	10743	RAI1	OMIM:182290
HP:0001609	Hoarse voice	10522	DEAF1	ORPHA:819
HP:0001609	Hoarse voice	3872	KRT17	OMIM:167210
HP:0001609	Hoarse voice	3872	KRT17	ORPHA:2309
HP:0001609	Hoarse voice	710	SERPING1	ORPHA:100050
HP:0001609	Hoarse voice	79158	GNPTAB	OMIM:252500
HP:0001609	Hoarse voice	79158	GNPTAB	ORPHA:576
HP:0001609	Hoarse voice	176	ACAN	OMIM:612813
HP:0001609	Hoarse voice	176	ACAN	ORPHA:171866
HP:0001609	Hoarse voice	7252	TSHB	ORPHA:90674
HP:0001609	Hoarse voice	6391	SDHC	OMIM:605373
HP:0001609	Hoarse voice	54332	GDAP1	OMIM:607706
HP:0001609	Hoarse voice	54332	GDAP1	ORPHA:101097
HP:0001609	Hoarse voice	54332	GDAP1	ORPHA:99948
HP:0001609	Hoarse voice	427	ASAH1	ORPHA:333
HP:0001609	Hoarse voice	427	ASAH1	OMIM:228000
HP:0001609	Hoarse voice	427	ASAH1	ORPHA:2590
HP:0001609	Hoarse voice	1896	EDA	OMIM:305100
HP:0001609	Hoarse voice	57492	ARID1B	OMIM:135900
HP:0001609	Hoarse voice	10560	SLC19A2	OMIM:249270
HP:0001609	Hoarse voice	5530	PPP3CA	OMIM:617711
HP:0001609	Hoarse voice	22861	NLRP1	OMIM:618803
HP:0001609	Hoarse voice	3423	IDS	ORPHA:217085
HP:0001609	Hoarse voice	3423	IDS	ORPHA:217093
HP:0001609	Hoarse voice	3423	IDS	OMIM:309900
HP:0001609	Hoarse voice	2200	FBN1	ORPHA:969
HP:0001609	Hoarse voice	2200	FBN1	OMIM:102370
HP:0001609	Hoarse voice	4054	LTBP3	ORPHA:969
HP:0001609	Hoarse voice	4054	LTBP3	OMIM:617809
HP:0001609	Hoarse voice	83550	GPR101	ORPHA:963
HP:0001609	Hoarse voice	9049	AIP	ORPHA:963
HP:0001609	Hoarse voice	23111	SPART	ORPHA:101000
HP:0001609	Hoarse voice	57190	SELENON	ORPHA:2020
HP:0001609	Hoarse voice	58	ACTA1	ORPHA:2020
HP:0001609	Hoarse voice	4633	MYL2	ORPHA:2020
HP:0001609	Hoarse voice	3679	ITGA7	ORPHA:2020
HP:0001609	Hoarse voice	7169	TPM2	ORPHA:2020
HP:0001609	Hoarse voice	9200	HACD1	ORPHA:2020
HP:0001609	Hoarse voice	7170	TPM3	ORPHA:2020
HP:0001609	Hoarse voice	51776	MAP3K20	ORPHA:2020
HP:0001609	Hoarse voice	3977	LIFR	OMIM:601559
HP:0001609	Hoarse voice	7067	THRA	OMIM:614450
HP:0001609	Hoarse voice	175	AGA	OMIM:208400
HP:0001609	Hoarse voice	6392	SDHD	OMIM:168000
HP:0001609	Hoarse voice	3265	HRAS	OMIM:218040
HP:0001609	Hoarse voice	3868	KRT16	ORPHA:2309
HP:0001609	Hoarse voice	3853	KRT6A	ORPHA:2309
HP:0001609	Hoarse voice	3854	KRT6B	ORPHA:2309
HP:0001609	Hoarse voice	2239	GPC4	ORPHA:2662
HP:0001609	Hoarse voice	2239	GPC4	ORPHA:373
HP:0001609	Hoarse voice	79784	MYH14	ORPHA:397744
HP:0001609	Hoarse voice	79784	MYH14	OMIM:614369
HP:0001609	Hoarse voice	6711	SPTBN1	OMIM:619475
HP:0001609	Hoarse voice	6804	STX1A	ORPHA:904
HP:0001609	Hoarse voice	7461	CLIP2	ORPHA:904
HP:0001609	Hoarse voice	84277	DNAJC30	ORPHA:904
HP:0001609	Hoarse voice	8468	FKBP6	ORPHA:904
HP:0001609	Hoarse voice	5982	RFC2	ORPHA:904
HP:0001609	Hoarse voice	2969	GTF2I	ORPHA:904
HP:0001609	Hoarse voice	3984	LIMK1	ORPHA:904
HP:0001609	Hoarse voice	9569	GTF2IRD1	ORPHA:904
HP:0001609	Hoarse voice	155382	VPS37D	ORPHA:904
HP:0001609	Hoarse voice	155368	METTL27	ORPHA:904
HP:0001609	Hoarse voice	114049	BUD23	ORPHA:904
HP:0001609	Hoarse voice	7458	EIF4H	ORPHA:904
HP:0001609	Hoarse voice	84163	GTF2IRD2	ORPHA:904
HP:0001609	Hoarse voice	9275	BCL7B	ORPHA:904
HP:0001609	Hoarse voice	26608	TBL2	ORPHA:904
HP:0001609	Hoarse voice	653361	NCF1	ORPHA:904
HP:0001609	Hoarse voice	135886	TMEM270	ORPHA:904
HP:0001609	Hoarse voice	51085	MLXIPL	ORPHA:904
HP:0001609	Hoarse voice	51085	MLXIPL	OMIM:194050
HP:0001609	Hoarse voice	9031	BAZ1B	ORPHA:904
HP:0001609	Hoarse voice	2006	ELN	ORPHA:904
HP:0001609	Hoarse voice	2006	ELN	OMIM:194050
HP:0001609	Hoarse voice	54949	SDHAF2	OMIM:601650
HP:0001609	Hoarse voice	715	C1R	OMIM:130080
HP:0001609	Hoarse voice	1836	SLC26A2	OMIM:222600
HP:0001609	Hoarse voice	5594	MAPK1	OMIM:619087
HP:0001609	Hoarse voice	4780	NFE2L2	OMIM:617744
HP:0001609	Hoarse voice	1893	ECM1	ORPHA:530
HP:0001609	Hoarse voice	1893	ECM1	OMIM:247100
HP:0001609	Hoarse voice	2719	GPC3	ORPHA:373
HP:0001609	Hoarse voice	6611	SMS	OMIM:309583
HP:0001609	Hoarse voice	5449	POU1F1	OMIM:613038
HP:0001609	Hoarse voice	10020	GNE	ORPHA:3166
HP:0001609	Hoarse voice	23592	LEMD3	ORPHA:1306
HP:0001609	Hoarse voice	23592	LEMD3	OMIM:166700
HP:0001609	Hoarse voice	7201	TRHR	ORPHA:99832
HP:0001609	Hoarse voice	64324	NSD1	ORPHA:3447
HP:0001609	Hoarse voice	8726	EED	ORPHA:3447
HP:0001609	Hoarse voice	23512	SUZ12	ORPHA:3447
HP:0001609	Hoarse voice	2146	EZH2	ORPHA:3447
HP:0001609	Hoarse voice	11011	TLK2	OMIM:618050
HP:0001609	Hoarse voice	23102	TBC1D2B	ORPHA:397973
HP:0001609	Hoarse voice	2316	FLNA	OMIM:309350
HP:0001609	Hoarse voice	10535	RNASEH2A	ORPHA:51
HP:0001609	Hoarse voice	84153	RNASEH2C	ORPHA:51
HP:0001609	Hoarse voice	25939	SAMHD1	ORPHA:51
HP:0001609	Hoarse voice	79621	RNASEH2B	ORPHA:51
HP:0001609	Hoarse voice	103	ADAR	ORPHA:51
HP:0001609	Hoarse voice	11277	TREX1	ORPHA:51
HP:0001609	Hoarse voice	100147744	RNU7-1	ORPHA:51
HP:0001609	Hoarse voice	134353	LSM11	ORPHA:51
HP:0001609	Hoarse voice	64135	IFIH1	ORPHA:51
HP:0001609	Hoarse voice	9927	MFN2	ORPHA:99947
HP:0001609	Hoarse voice	59341	TRPV4	OMIM:181405
HP:0001609	Hoarse voice	7849	PAX8	OMIM:218700
HP:0001609	Hoarse voice	23556	PIGN	ORPHA:280633
HP:0001609	Hoarse voice	8425	LTBP4	OMIM:613177
HP:0001609	Hoarse voice	50506	DUOX2	ORPHA:226316
HP:0001609	Hoarse voice	388015	RTL1	ORPHA:96334
HP:0001609	Hoarse voice	8788	DLK1	ORPHA:96334
HP:0001609	Hoarse voice	55384	MEG3	ORPHA:96334
HP:0011821	Abnormal facial skeleton morphology	3747	KCNC2	OMIM:619913
HP:0011821	Abnormal facial skeleton morphology	112476	PRRT2	ORPHA:98810
HP:0011821	Abnormal facial skeleton morphology	25953	PNKD	ORPHA:98810
HP:0011821	Abnormal facial skeleton morphology	100	ADA	ORPHA:277
HP:0011821	Abnormal facial skeleton morphology	100	ADA	OMIM:102700
HP:0011821	Abnormal facial skeleton morphology	1789	DNMT3B	OMIM:242860
HP:0011821	Abnormal facial skeleton morphology	4683	NBN	OMIM:251260
HP:0011821	Abnormal facial skeleton morphology	2332	FMR1	ORPHA:908
HP:0011821	Abnormal facial skeleton morphology	4860	PNP	OMIM:613179
HP:0011821	Abnormal facial skeleton morphology	7454	WAS	ORPHA:906
HP:0011821	Abnormal facial skeleton morphology	7456	WIPF1	ORPHA:906
HP:0011821	Abnormal facial skeleton morphology	1493	CTLA4	ORPHA:900
HP:0011821	Abnormal facial skeleton morphology	26191	PTPN22	ORPHA:900
HP:0011821	Abnormal facial skeleton morphology	3115	HLA-DPB1	ORPHA:900
HP:0011821	Abnormal facial skeleton morphology	5657	PRTN3	ORPHA:900
HP:0011821	Abnormal facial skeleton morphology	3113	HLA-DPA1	ORPHA:900
HP:0011821	Abnormal facial skeleton morphology	3561	IL2RG	OMIM:312863
HP:0011821	Abnormal facial skeleton morphology	6804	STX1A	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	2947	GSTM3	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	7040	TGFB1	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	2729	GCLC	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	1084	CEACAM3	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	6556	SLC11A1	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	51164	DCTN4	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	3783	KCNN4	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	4282	MIF	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	1909	EDNRA	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	6550	SLC9A3	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	3162	HMOX1	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	115019	SLC26A9	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	3077	HFE	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	11254	SLC6A14	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	5265	SERPINA1	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	1080	CFTR	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	22802	CLCA4	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	4680	CEACAM6	ORPHA:586
HP:0011821	Abnormal facial skeleton morphology	472	ATM	OMIM:208900
HP:0011821	Abnormal facial skeleton morphology	1536	CYBB	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	4688	NCF2	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	1535	CYBA	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	4689	NCF4	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	653361	NCF1	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	79415	CYBC1	ORPHA:379
HP:0011821	Abnormal facial skeleton morphology	1991	ELANE	ORPHA:2686
HP:0011821	Abnormal facial skeleton morphology	134218	DNAJC21	ORPHA:811
HP:0011821	Abnormal facial skeleton morphology	79631	EFL1	ORPHA:811
HP:0011821	Abnormal facial skeleton morphology	51119	SBDS	ORPHA:811
HP:0011821	Abnormal facial skeleton morphology	6729	SRP54	ORPHA:811
HP:0011821	Abnormal facial skeleton morphology	695	BTK	ORPHA:47
HP:0011821	Abnormal facial skeleton morphology	695	BTK	OMIM:307200
HP:0011821	Abnormal facial skeleton morphology	5994	RFXAP	ORPHA:572
HP:0011821	Abnormal facial skeleton morphology	4261	CIITA	ORPHA:572
HP:0011821	Abnormal facial skeleton morphology	5993	RFX5	ORPHA:572
HP:0011821	Abnormal facial skeleton morphology	8625	RFXANK	ORPHA:572
HP:0011821	Abnormal facial skeleton morphology	4256	MGP	OMIM:245150
HP:0011821	Abnormal facial skeleton morphology	5692	PSMB4	OMIM:617591
HP:0011821	Abnormal facial skeleton morphology	5698	PSMB9	OMIM:617591
HP:0011821	Abnormal facial skeleton morphology	3394	IRF8	OMIM:226990
HP:0011821	Abnormal facial skeleton morphology	7852	CXCR4	ORPHA:51636
HP:0011821	Abnormal facial skeleton morphology	4763	NF1	ORPHA:363700
HP:0011821	Abnormal facial skeleton morphology	860	RUNX2	ORPHA:1452
HP:0011821	Abnormal facial skeleton morphology	51314	NME8	OMIM:610852
HP:0011821	Abnormal facial skeleton morphology	352909	DNAAF3	OMIM:606763
HP:0011821	Abnormal facial skeleton morphology	3321	IGSF3	OMIM:149700
HP:0011821	Abnormal facial skeleton morphology	6929	TCF3	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	973	CD79A	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	974	CD79B	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	3543	IGLL1	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	3507	IGHM	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	29760	BLNK	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	5295	PIK3R1	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	56262	LRRC8A	ORPHA:33110
HP:0011821	Abnormal facial skeleton morphology	9131	AIFM1	OMIM:300232
HP:0011821	Abnormal facial skeleton morphology	6535	SLC6A8	OMIM:300352
HP:0011821	Abnormal facial skeleton morphology	6535	SLC6A8	ORPHA:52503
HP:0011821	Abnormal facial skeleton morphology	11253	MAN1B1	ORPHA:397941
HP:0011821	Abnormal facial skeleton morphology	11253	MAN1B1	OMIM:614202
HP:0011821	Abnormal facial skeleton morphology	54507	ADAMTSL4	ORPHA:1885
HP:0011821	Abnormal facial skeleton morphology	3636	INPPL1	ORPHA:3144
HP:0011821	Abnormal facial skeleton morphology	23169	SLC35D1	ORPHA:3144
HP:0011821	Abnormal facial skeleton morphology	23169	SLC35D1	OMIM:269250
HP:0011821	Abnormal facial skeleton morphology	118987	PDZD8	OMIM:620021
HP:0011821	Abnormal facial skeleton morphology	267010	RNU12	OMIM:603116
HP:0011821	Abnormal facial skeleton morphology	613	BCR	ORPHA:261330
HP:0011821	Abnormal facial skeleton morphology	1399	CRKL	ORPHA:261330
HP:0011821	Abnormal facial skeleton morphology	7021	TFAP2B	ORPHA:46627
HP:0011821	Abnormal facial skeleton morphology	547	KIF1A	ORPHA:2836
HP:0011821	Abnormal facial skeleton morphology	55858	TMEM165	OMIM:614727
HP:0011821	Abnormal facial skeleton morphology	79813	EHMT1	OMIM:610253
HP:0011821	Abnormal facial skeleton morphology	5447	POR	OMIM:201750
HP:0011821	Abnormal facial skeleton morphology	5447	POR	OMIM:207410
HP:0011821	Abnormal facial skeleton morphology	4803	NGF	ORPHA:64752
HP:0011821	Abnormal facial skeleton morphology	4914	NTRK1	ORPHA:64752
HP:0011821	Abnormal facial skeleton morphology	4036	LRP2	OMIM:222448
HP:0011821	Abnormal facial skeleton morphology	79718	TBL1XR1	OMIM:602342
HP:0011821	Abnormal facial skeleton morphology	79718	TBL1XR1	ORPHA:487825
HP:0011821	Abnormal facial skeleton morphology	4849	CNOT3	OMIM:618672
HP:0011821	Abnormal facial skeleton morphology	124583	CANT1	OMIM:251450
HP:0011821	Abnormal facial skeleton morphology	3835	KIF22	OMIM:603546
HP:0011821	Abnormal facial skeleton morphology	7030	TFE3	OMIM:301066
HP:0011821	Abnormal facial skeleton morphology	51574	LARP7	ORPHA:319671
HP:0011821	Abnormal facial skeleton morphology	51574	LARP7	OMIM:615071
HP:0011821	Abnormal facial skeleton morphology	50945	TBX22	ORPHA:921
HP:0011821	Abnormal facial skeleton morphology	4883	NPR3	OMIM:619543
HP:0011821	Abnormal facial skeleton morphology	55212	BBS7	OMIM:615984
HP:0011821	Abnormal facial skeleton morphology	8925	HERC1	OMIM:617011
HP:0011821	Abnormal facial skeleton morphology	8925	HERC1	ORPHA:457359
HP:0011821	Abnormal facial skeleton morphology	89970	RSPRY1	OMIM:616723
HP:0011821	Abnormal facial skeleton morphology	89970	RSPRY1	ORPHA:457395
HP:0011821	Abnormal facial skeleton morphology	23363	OBSL1	OMIM:612921
HP:0011821	Abnormal facial skeleton morphology	128869	PIGU	OMIM:618590
HP:0011821	Abnormal facial skeleton morphology	176	ACAN	OMIM:612813
HP:0011821	Abnormal facial skeleton morphology	90161	HS6ST2	OMIM:301025
HP:0011821	Abnormal facial skeleton morphology	1741	DLG3	OMIM:300850
HP:0011821	Abnormal facial skeleton morphology	5831	PYCR1	OMIM:612940
HP:0011821	Abnormal facial skeleton morphology	5831	PYCR1	ORPHA:2078
HP:0011821	Abnormal facial skeleton morphology	9820	CUL7	OMIM:273750
HP:0011821	Abnormal facial skeleton morphology	6898	TAT	ORPHA:28378
HP:0011821	Abnormal facial skeleton morphology	6469	SHH	OMIM:142945
HP:0011821	Abnormal facial skeleton morphology	7703	PCGF2	OMIM:618371
HP:0011821	Abnormal facial skeleton morphology	7319	UBE2A	OMIM:300860
HP:0011821	Abnormal facial skeleton morphology	8985	PLOD3	OMIM:612394
HP:0011821	Abnormal facial skeleton morphology	2892	GRIA3	ORPHA:364028
HP:0011821	Abnormal facial skeleton morphology	5702	PSMC3	OMIM:619354
HP:0011821	Abnormal facial skeleton morphology	23545	ATP6V0A2	OMIM:219200
HP:0011821	Abnormal facial skeleton morphology	23545	ATP6V0A2	ORPHA:357074
HP:0011821	Abnormal facial skeleton morphology	23630	KCNE5	ORPHA:86818
HP:0011821	Abnormal facial skeleton morphology	2182	ACSL4	ORPHA:86818
HP:0011821	Abnormal facial skeleton morphology	4841	NONO	OMIM:300967
HP:0011821	Abnormal facial skeleton morphology	4841	NONO	ORPHA:466791
HP:0011821	Abnormal facial skeleton morphology	9759	HDAC4	OMIM:600430
HP:0011821	Abnormal facial skeleton morphology	178	AGL	OMIM:232400
HP:0011821	Abnormal facial skeleton morphology	387	RHOA	OMIM:618727
HP:0011821	Abnormal facial skeleton morphology	5449	POU1F1	OMIM:613038
HP:0011821	Abnormal facial skeleton morphology	4693	NDP	ORPHA:649
HP:0011821	Abnormal facial skeleton morphology	9130	FAM50A	OMIM:300261
HP:0011821	Abnormal facial skeleton morphology	3476	IGBP1	OMIM:300472
HP:0011821	Abnormal facial skeleton morphology	3476	IGBP1	ORPHA:52055
HP:0011821	Abnormal facial skeleton morphology	2077	ERF	OMIM:600775
HP:0011821	Abnormal facial skeleton morphology	8367	H4C5	OMIM:619950
HP:0011821	Abnormal facial skeleton morphology	10046	MAMLD1	ORPHA:456328
HP:0011821	Abnormal facial skeleton morphology	4534	MTM1	ORPHA:456328
HP:0011821	Abnormal facial skeleton morphology	10054	UBA2	OMIM:619959
HP:0011821	Abnormal facial skeleton morphology	81857	MED25	OMIM:616449
HP:0011821	Abnormal facial skeleton morphology	81857	MED25	ORPHA:464738
HP:0011821	Abnormal facial skeleton morphology	347734	SLC35B2	OMIM:620269
HP:0011821	Abnormal facial skeleton morphology	54968	TMEM70	ORPHA:1194
HP:0011821	Abnormal facial skeleton morphology	6536	SLC6A9	OMIM:617301
HP:0011821	Abnormal facial skeleton morphology	318	NUDT2	OMIM:619844
HP:0011821	Abnormal facial skeleton morphology	9915	ARNT2	OMIM:615926
HP:0011821	Abnormal facial skeleton morphology	3190	HNRNPK	OMIM:616580
HP:0011821	Abnormal facial skeleton morphology	23184	MESD	OMIM:618644
HP:0011821	Abnormal facial skeleton morphology	51319	RSRC1	OMIM:618402
HP:0011821	Abnormal facial skeleton morphology	79184	BRCC3	ORPHA:280679
HP:0011821	Abnormal facial skeleton morphology	7841	MOGS	OMIM:606056
HP:0011821	Abnormal facial skeleton morphology	7841	MOGS	ORPHA:79330
HP:0011821	Abnormal facial skeleton morphology	56992	KIF15	OMIM:619981
HP:0011821	Abnormal facial skeleton morphology	8550	MAPKAPK5	OMIM:619869
HP:0011821	Abnormal facial skeleton morphology	1954	MEGF8	OMIM:614976
HP:0011821	Abnormal facial skeleton morphology	4247	MGAT2	OMIM:212066
HP:0011821	Abnormal facial skeleton morphology	54496	PRMT7	ORPHA:464288
HP:0011821	Abnormal facial skeleton morphology	54496	PRMT7	OMIM:617157
HP:0011821	Abnormal facial skeleton morphology	23265	EXOC7	OMIM:619072
HP:0011821	Abnormal facial skeleton morphology	9653	HS2ST1	OMIM:619194
HP:0011821	Abnormal facial skeleton morphology	51633	OTUD6B	OMIM:617452
HP:0011821	Abnormal facial skeleton morphology	51633	OTUD6B	ORPHA:505237
HP:0011821	Abnormal facial skeleton morphology	9508	ADAMTS3	ORPHA:2136
HP:0011821	Abnormal facial skeleton morphology	147372	CCBE1	ORPHA:2136
HP:0011821	Abnormal facial skeleton morphology	147372	CCBE1	OMIM:235510
HP:0011821	Abnormal facial skeleton morphology	8364	H4C3	OMIM:619758
HP:0011821	Abnormal facial skeleton morphology	147912	SIX5	ORPHA:107
HP:0011821	Abnormal facial skeleton morphology	27086	FOXP1	ORPHA:391372
HP:0011821	Abnormal facial skeleton morphology	27086	FOXP1	OMIM:613670
HP:0011821	Abnormal facial skeleton morphology	7025	NR2F1	OMIM:615722
HP:0011821	Abnormal facial skeleton morphology	9993	DGCR2	OMIM:192430
HP:0011821	Abnormal facial skeleton morphology	8220	ESS2	OMIM:192430
HP:0011821	Abnormal facial skeleton morphology	8214	DGCR6	OMIM:192430
HP:0011821	Abnormal facial skeleton morphology	54487	DGCR8	OMIM:192430
HP:0011821	Abnormal facial skeleton morphology	5422	POLA1	ORPHA:163976
HP:0011821	Abnormal facial skeleton morphology	5422	POLA1	OMIM:301030
HP:0011821	Abnormal facial skeleton morphology	10667	FARS2	ORPHA:466722
HP:0011821	Abnormal facial skeleton morphology	3187	HNRNPH1	OMIM:620083
HP:0011821	Abnormal facial skeleton morphology	5373	PMM2	ORPHA:79318
HP:0011821	Abnormal facial skeleton morphology	4677	NARS1	OMIM:619092
HP:0011821	Abnormal facial skeleton morphology	57479	PRR12	OMIM:619539
HP:0011821	Abnormal facial skeleton morphology	729920	CRPPA	OMIM:614643
HP:0011821	Abnormal facial skeleton morphology	4088	SMAD3	OMIM:613795
HP:0011821	Abnormal facial skeleton morphology	4088	SMAD3	ORPHA:284984
HP:0011821	Abnormal facial skeleton morphology	4088	SMAD3	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	79791	FBXO31	OMIM:615979
HP:0011821	Abnormal facial skeleton morphology	10533	ATG7	OMIM:619422
HP:0011821	Abnormal facial skeleton morphology	51013	EXOSC1	OMIM:619304
HP:0011821	Abnormal facial skeleton morphology	1642	DDB1	OMIM:619426
HP:0011821	Abnormal facial skeleton morphology	3720	JARID2	OMIM:620098
HP:0011821	Abnormal facial skeleton morphology	274	BIN1	ORPHA:169186
HP:0011821	Abnormal facial skeleton morphology	6261	RYR1	ORPHA:169186
HP:0011821	Abnormal facial skeleton morphology	7273	TTN	ORPHA:169186
HP:0011821	Abnormal facial skeleton morphology	10466	COG5	ORPHA:263487
HP:0011821	Abnormal facial skeleton morphology	30000	TNPO2	OMIM:619556
HP:0011821	Abnormal facial skeleton morphology	11133	KPTN	OMIM:615637
HP:0011821	Abnormal facial skeleton morphology	55593	OTUD5	OMIM:301056
HP:0011821	Abnormal facial skeleton morphology	56945	MRPS22	OMIM:611719
HP:0011821	Abnormal facial skeleton morphology	55315	SLC29A3	OMIM:602782
HP:0011821	Abnormal facial skeleton morphology	9662	CEP135	OMIM:614673
HP:0011821	Abnormal facial skeleton morphology	4953	ODC1	ORPHA:544488
HP:0011821	Abnormal facial skeleton morphology	79068	FTO	OMIM:612938
HP:0011821	Abnormal facial skeleton morphology	3417	IDH1	ORPHA:99646
HP:0011821	Abnormal facial skeleton morphology	16	AARS1	OMIM:619691
HP:0011821	Abnormal facial skeleton morphology	56915	EXOSC5	OMIM:619576
HP:0011821	Abnormal facial skeleton morphology	2530	FUT8	OMIM:618005
HP:0011821	Abnormal facial skeleton morphology	23511	NUP188	OMIM:618804
HP:0011821	Abnormal facial skeleton morphology	2304	FOXE1	ORPHA:1226
HP:0011821	Abnormal facial skeleton morphology	444	ASPH	OMIM:601552
HP:0011821	Abnormal facial skeleton morphology	10943	MSL3	OMIM:301032
HP:0011821	Abnormal facial skeleton morphology	9758	FRMPD4	OMIM:300983
HP:0011821	Abnormal facial skeleton morphology	57511	COG6	OMIM:614576
HP:0011821	Abnormal facial skeleton morphology	51729	WBP11	OMIM:619227
HP:0011821	Abnormal facial skeleton morphology	54551	MAGEL2	OMIM:615547
HP:0011821	Abnormal facial skeleton morphology	8943	AP3D1	OMIM:617050
HP:0011821	Abnormal facial skeleton morphology	29895	MYL11	OMIM:619110
HP:0011821	Abnormal facial skeleton morphology	10847	SRCAP	OMIM:619595
HP:0011821	Abnormal facial skeleton morphology	79005	SCNM1	OMIM:620107
HP:0011821	Abnormal facial skeleton morphology	54796	BNC2	ORPHA:93110
HP:0011821	Abnormal facial skeleton morphology	25914	RTTN	ORPHA:468631
HP:0011821	Abnormal facial skeleton morphology	440138	ALG11	ORPHA:280071
HP:0011821	Abnormal facial skeleton morphology	9326	ZNHIT3	OMIM:260565
HP:0011821	Abnormal facial skeleton morphology	55704	CCDC88A	OMIM:617507
HP:0011821	Abnormal facial skeleton morphology	55717	WDR11	OMIM:620237
HP:0011821	Abnormal facial skeleton morphology	118924	FRA10AC1	OMIM:620113
HP:0011821	Abnormal facial skeleton morphology	6519	SLC3A1	ORPHA:163690
HP:0011821	Abnormal facial skeleton morphology	9581	PREPL	ORPHA:163690
HP:0011821	Abnormal facial skeleton morphology	2273	FHL1	OMIM:300280
HP:0011821	Abnormal facial skeleton morphology	55252	ASXL2	OMIM:617190
HP:0011821	Abnormal facial skeleton morphology	80267	EDEM3	OMIM:619493
HP:0011821	Abnormal facial skeleton morphology	342035	GLDN	OMIM:617194
HP:0011821	Abnormal facial skeleton morphology	200205	IBA57	OMIM:615330
HP:0011821	Abnormal facial skeleton morphology	9757	KMT2B	OMIM:619934
HP:0011821	Abnormal facial skeleton morphology	5286	PIK3C2A	ORPHA:557003
HP:0011821	Abnormal facial skeleton morphology	84842	HPDL	OMIM:619026
HP:0011821	Abnormal facial skeleton morphology	8516	ITGA8	OMIM:191830
HP:0011821	Abnormal facial skeleton morphology	375056	MIA3	OMIM:619269
HP:0011821	Abnormal facial skeleton morphology	18	ABAT	OMIM:613163
HP:0011821	Abnormal facial skeleton morphology	7043	TGFB3	OMIM:615582
HP:0011821	Abnormal facial skeleton morphology	7043	TGFB3	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	523	ATP6V1A	OMIM:617403
HP:0011821	Abnormal facial skeleton morphology	25871	NEPRO	OMIM:618853
HP:0011821	Abnormal facial skeleton morphology	7042	TGFB2	OMIM:614816
HP:0011821	Abnormal facial skeleton morphology	7042	TGFB2	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4629	MYH11	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4015	LOX	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4087	SMAD2	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4089	SMAD4	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	59	ACTA2	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	5592	PRKG1	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	2301	FOXE3	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4144	MAT2A	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	23493	HEY2	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	8076	MFAP5	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	4638	MYLK	ORPHA:91387
HP:0011821	Abnormal facial skeleton morphology	8450	CUL4B	OMIM:300354
HP:0011821	Abnormal facial skeleton morphology	2673	GFPT1	OMIM:608931
HP:0011821	Abnormal facial skeleton morphology	1145	CHRNE	OMIM:608931
HP:0011821	Abnormal facial skeleton morphology	51256	TBC1D7	OMIM:248000
HP:0011821	Abnormal facial skeleton morphology	340533	NEXMIF	OMIM:300912
HP:0011821	Abnormal facial skeleton morphology	1183	CLCN4	OMIM:300114
HP:0011821	Abnormal facial skeleton morphology	9853	RUSC2	OMIM:617773
HP:0011821	Abnormal facial skeleton morphology	23135	KDM6B	OMIM:618505
HP:0011821	Abnormal facial skeleton morphology	55627	SMPD4	OMIM:618622
HP:0011821	Abnormal facial skeleton morphology	3703	STT3A	OMIM:619714
HP:0011821	Abnormal facial skeleton morphology	1788	DNMT3A	ORPHA:404443
HP:0011821	Abnormal facial skeleton morphology	1161	ERCC8	ORPHA:90321
HP:0011821	Abnormal facial skeleton morphology	1161	ERCC8	ORPHA:90322
HP:0011821	Abnormal facial skeleton morphology	1161	ERCC8	OMIM:216400
HP:0011821	Abnormal facial skeleton morphology	6840	SVIL	OMIM:619040
HP:0011821	Abnormal facial skeleton morphology	4983	OPHN1	OMIM:300486
HP:0011821	Abnormal facial skeleton morphology	4983	OPHN1	ORPHA:137831
HP:0011821	Abnormal facial skeleton morphology	10479	SLC9A6	OMIM:300243
HP:0011821	Abnormal facial skeleton morphology	10479	SLC9A6	ORPHA:85278
HP:0011821	Abnormal facial skeleton morphology	3021	H3-3B	OMIM:619721
HP:0011821	Abnormal facial skeleton morphology	535	ATP6V0A1	OMIM:619971
HP:0011821	Abnormal facial skeleton morphology	8913	CACNA1G	OMIM:618087
HP:0011821	Abnormal facial skeleton morphology	10555	AGPAT2	OMIM:608594
HP:0011821	Abnormal facial skeleton morphology	10555	AGPAT2	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	1193	CLIC2	ORPHA:324410
HP:0011821	Abnormal facial skeleton morphology	2720	GLB1	OMIM:253010
HP:0011821	Abnormal facial skeleton morphology	3340	NDST1	OMIM:616116
HP:0011821	Abnormal facial skeleton morphology	93627	TBCK	ORPHA:488632
HP:0011821	Abnormal facial skeleton morphology	55623	THUMPD1	OMIM:619989
HP:0011821	Abnormal facial skeleton morphology	54345	SOX18	OMIM:137940
HP:0011821	Abnormal facial skeleton morphology	388662	SLC6A17	ORPHA:457212
HP:0011821	Abnormal facial skeleton morphology	388662	SLC6A17	OMIM:616269
HP:0011821	Abnormal facial skeleton morphology	3572	IL6ST	OMIM:619750
HP:0011821	Abnormal facial skeleton morphology	5593	PRKG2	OMIM:619636
HP:0011821	Abnormal facial skeleton morphology	6558	SLC12A2	OMIM:619080
HP:0011821	Abnormal facial skeleton morphology	56098	PCDHGC4	OMIM:619880
HP:0011821	Abnormal facial skeleton morphology	6901	TAFAZZIN	OMIM:302060
HP:0011821	Abnormal facial skeleton morphology	4221	MEN1	ORPHA:99725
HP:0011821	Abnormal facial skeleton morphology	55343	SLC35C1	ORPHA:99843
HP:0011821	Abnormal facial skeleton morphology	8643	PTCH2	ORPHA:377
HP:0011821	Abnormal facial skeleton morphology	51684	SUFU	ORPHA:377
HP:0011821	Abnormal facial skeleton morphology	2719	GPC3	ORPHA:373
HP:0011821	Abnormal facial skeleton morphology	2719	GPC3	OMIM:312870
HP:0011821	Abnormal facial skeleton morphology	7355	SLC35A2	OMIM:300896
HP:0011821	Abnormal facial skeleton morphology	54941	RNF125	OMIM:616260
HP:0011821	Abnormal facial skeleton morphology	6611	SMS	OMIM:309583
HP:0011821	Abnormal facial skeleton morphology	6611	SMS	ORPHA:3063
HP:0011821	Abnormal facial skeleton morphology	22907	DHX30	OMIM:617804
HP:0011821	Abnormal facial skeleton morphology	8924	HERC2	OMIM:615516
HP:0011821	Abnormal facial skeleton morphology	9179	AP4M1	OMIM:612936
HP:0011821	Abnormal facial skeleton morphology	4948	OCA2	ORPHA:98794
HP:0011821	Abnormal facial skeleton morphology	7965	AIMP2	OMIM:618006
HP:0011821	Abnormal facial skeleton morphology	23389	MED13L	ORPHA:369891
HP:0011821	Abnormal facial skeleton morphology	10524	KAT5	OMIM:619103
HP:0011821	Abnormal facial skeleton morphology	54681	P4HTM	OMIM:618493
HP:0011821	Abnormal facial skeleton morphology	10297	APC2	OMIM:617169
HP:0011821	Abnormal facial skeleton morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011821	Abnormal facial skeleton morphology	6023	RMRP	OMIM:607095
HP:0011821	Abnormal facial skeleton morphology	3643	INSR	OMIM:262190
HP:0011821	Abnormal facial skeleton morphology	3643	INSR	ORPHA:769
HP:0011821	Abnormal facial skeleton morphology	2290	FOXG1	ORPHA:261144
HP:0011821	Abnormal facial skeleton morphology	26580	BSCL2	OMIM:269700
HP:0011821	Abnormal facial skeleton morphology	26580	BSCL2	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	2588	GALNS	OMIM:253000
HP:0011821	Abnormal facial skeleton morphology	4810	NHS	ORPHA:627
HP:0011821	Abnormal facial skeleton morphology	6928	HNF1B	ORPHA:93111
HP:0011821	Abnormal facial skeleton morphology	63932	STEEP1	OMIM:301013
HP:0011821	Abnormal facial skeleton morphology	284252	KCTD1	OMIM:181270
HP:0011821	Abnormal facial skeleton morphology	2893	GRIA4	OMIM:617864
HP:0011821	Abnormal facial skeleton morphology	8292	COLQ	ORPHA:98915
HP:0011821	Abnormal facial skeleton morphology	3913	LAMB2	ORPHA:98915
HP:0011821	Abnormal facial skeleton morphology	84081	NSRP1	OMIM:620001
HP:0011821	Abnormal facial skeleton morphology	5468	PPARG	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	284119	CAVIN1	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	2353	FOS	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	857	CAV1	ORPHA:528
HP:0011821	Abnormal facial skeleton morphology	1795	DOCK3	OMIM:618292
HP:0011821	Abnormal facial skeleton morphology	11141	IL1RAPL1	OMIM:300143
HP:0011821	Abnormal facial skeleton morphology	3832	KIF11	OMIM:152950
HP:0011821	Abnormal facial skeleton morphology	83452	RAB33B	OMIM:615222
HP:0011821	Abnormal facial skeleton morphology	5567	PRKACB	OMIM:619143
HP:0011821	Abnormal facial skeleton morphology	1460	CSNK2B	OMIM:618732
HP:0011821	Abnormal facial skeleton morphology	57194	ATP10A	ORPHA:411515
HP:0011821	Abnormal facial skeleton morphology	25886	POC1A	OMIM:614813
HP:0011821	Abnormal facial skeleton morphology	2737	GLI3	ORPHA:672
HP:0011821	Abnormal facial skeleton morphology	4625	MYH7	ORPHA:324604
HP:0011821	Abnormal facial skeleton morphology	6134	RPL10	OMIM:300998
HP:0011821	Abnormal facial skeleton morphology	6134	RPL10	ORPHA:459070
HP:0011821	Abnormal facial skeleton morphology	79868	ALG13	OMIM:300884
HP:0011821	Abnormal facial skeleton morphology	5649	RELN	ORPHA:89844
HP:0011821	Abnormal facial skeleton morphology	10300	KATNB1	ORPHA:89844
HP:0011821	Abnormal facial skeleton morphology	54820	NDE1	ORPHA:89844
HP:0011821	Abnormal facial skeleton morphology	55790	CSGALNACT1	OMIM:618870
HP:0011821	Abnormal facial skeleton morphology	26224	FBXL3	OMIM:606220
HP:0011821	Abnormal facial skeleton morphology	113189	CHST14	ORPHA:2953
HP:0011821	Abnormal facial skeleton morphology	113189	CHST14	OMIM:601776
HP:0011821	Abnormal facial skeleton morphology	29940	DSE	ORPHA:2953
HP:0011821	Abnormal facial skeleton morphology	9692	PRORP	OMIM:619737
HP:0011821	Abnormal facial skeleton morphology	7994	KAT6A	ORPHA:457193
HP:0011821	Abnormal facial skeleton morphology	7994	KAT6A	OMIM:616268
HP:0011821	Abnormal facial skeleton morphology	90993	CREB3L1	OMIM:616229
HP:0011821	Abnormal facial skeleton morphology	9325	TRIP4	OMIM:616866
HP:0011821	Abnormal facial skeleton morphology	1501	CTNND2	ORPHA:281
HP:0011821	Abnormal facial skeleton morphology	9037	SEMA5A	ORPHA:281
HP:0011821	Abnormal facial skeleton morphology	9419	CRIPT	OMIM:615789
HP:0011821	Abnormal facial skeleton morphology	25942	SIN3A	OMIM:613406
HP:0011821	Abnormal facial skeleton morphology	59336	PRDM13	OMIM:619909
HP:0011821	Abnormal facial skeleton morphology	23443	SLC35A3	OMIM:615553
HP:0011821	Abnormal facial skeleton morphology	9894	TELO2	ORPHA:488642
HP:0011821	Abnormal facial skeleton morphology	55165	CEP55	OMIM:236500
HP:0011821	Abnormal facial skeleton morphology	2571	GAD1	OMIM:619124
HP:0011821	Abnormal facial skeleton morphology	55617	TASP1	OMIM:618950
HP:0011821	Abnormal facial skeleton morphology	5075	PAX1	OMIM:615560
HP:0011821	Abnormal facial skeleton morphology	100506658	OCLN	OMIM:251290
HP:0011821	Abnormal facial skeleton morphology	8565	YARS1	OMIM:619418
HP:0011821	Abnormal facial skeleton morphology	26173	INTS1	OMIM:618571
HP:0011821	Abnormal facial skeleton morphology	2245	FGD1	OMIM:305400
HP:0011821	Abnormal facial skeleton morphology	2245	FGD1	ORPHA:915
HP:0011821	Abnormal facial skeleton morphology	10617	STAMBP	OMIM:614261
HP:0011821	Abnormal facial skeleton morphology	26128	KIFBP	OMIM:609460
HP:0011821	Abnormal facial skeleton morphology	5077	PAX3	ORPHA:1529
HP:0011821	Abnormal facial skeleton morphology	5077	PAX3	OMIM:122880
HP:0011821	Abnormal facial skeleton morphology	8626	TP63	OMIM:604292
HP:0011821	Abnormal facial skeleton morphology	8626	TP63	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	8626	TP63	OMIM:106260
HP:0011821	Abnormal facial skeleton morphology	8626	TP63	OMIM:129400
HP:0011821	Abnormal facial skeleton morphology	5308	PITX2	ORPHA:782
HP:0011821	Abnormal facial skeleton morphology	5308	PITX2	OMIM:180500
HP:0011821	Abnormal facial skeleton morphology	2296	FOXC1	ORPHA:782
HP:0011821	Abnormal facial skeleton morphology	7314	UBB	ORPHA:99772
HP:0011821	Abnormal facial skeleton morphology	57822	GRHL3	ORPHA:99772
HP:0011821	Abnormal facial skeleton morphology	4054	LTBP3	OMIM:601216
HP:0011821	Abnormal facial skeleton morphology	650	BMP2	ORPHA:261295
HP:0011821	Abnormal facial skeleton morphology	6651	SON	OMIM:617140
HP:0011821	Abnormal facial skeleton morphology	6651	SON	ORPHA:500150
HP:0011821	Abnormal facial skeleton morphology	4487	MSX1	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	1739	DLG1	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	999	CDH1	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	5156	PDGFRA	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	9411	ARHGAP29	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	1748	DLX4	ORPHA:199306
HP:0011821	Abnormal facial skeleton morphology	64135	IFIH1	OMIM:182250
HP:0011821	Abnormal facial skeleton morphology	10484	SEC23A	ORPHA:50814
HP:0011821	Abnormal facial skeleton morphology	29920	PYCR2	ORPHA:481152
HP:0011821	Abnormal facial skeleton morphology	92344	GORAB	OMIM:231070
HP:0011821	Abnormal facial skeleton morphology	1009	CDH11	OMIM:211380
HP:0011821	Abnormal facial skeleton morphology	1009	CDH11	ORPHA:1299
HP:0011821	Abnormal facial skeleton morphology	633	BGN	OMIM:300106
HP:0011821	Abnormal facial skeleton morphology	2239	GPC4	ORPHA:2662
HP:0011821	Abnormal facial skeleton morphology	81794	ADAMTS10	OMIM:277600
HP:0011821	Abnormal facial skeleton morphology	55621	TRMT1	OMIM:618302
HP:0011821	Abnormal facial skeleton morphology	3590	IL11RA	OMIM:614188
HP:0011821	Abnormal facial skeleton morphology	7337	UBE3A	OMIM:105830
HP:0011821	Abnormal facial skeleton morphology	23102	TBC1D2B	ORPHA:397973
HP:0011821	Abnormal facial skeleton morphology	5566	PRKACA	OMIM:619142
HP:0011821	Abnormal facial skeleton morphology	80169	CTC1	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	26277	TINF2	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	55651	NHP2	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	55135	WRAP53	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	51750	RTEL1	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	4869	NPM1	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	7012	TERC	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	55505	NOP10	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	5073	PARN	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	7015	TERT	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	1736	DKC1	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	7298	TYMS	ORPHA:1775
HP:0011821	Abnormal facial skeleton morphology	10844	TUBGCP2	OMIM:618737
HP:0011821	Abnormal facial skeleton morphology	529	ATP6V1E1	OMIM:617402
HP:0011821	Abnormal facial skeleton morphology	865	CBFB	OMIM:620099
HP:0011821	Abnormal facial skeleton morphology	9990	SLC12A6	OMIM:218000
HP:0011821	Abnormal facial skeleton morphology	1718	DHCR24	OMIM:602398
HP:0011821	Abnormal facial skeleton morphology	1718	DHCR24	ORPHA:35107
HP:0011821	Abnormal facial skeleton morphology	4897	NRCAM	OMIM:619833
HP:0011821	Abnormal facial skeleton morphology	1134	CHRNA1	OMIM:608930
HP:0011821	Abnormal facial skeleton morphology	1134	CHRNA1	OMIM:253290
HP:0011821	Abnormal facial skeleton morphology	55209	SETD5	ORPHA:404440
HP:0011821	Abnormal facial skeleton morphology	55209	SETD5	OMIM:615761
HP:0011821	Abnormal facial skeleton morphology	2317	FLNB	ORPHA:56305
HP:0011821	Abnormal facial skeleton morphology	2317	FLNB	ORPHA:1190
HP:0011821	Abnormal facial skeleton morphology	2317	FLNB	OMIM:108721
HP:0011821	Abnormal facial skeleton morphology	2317	FLNB	OMIM:108720
HP:0011821	Abnormal facial skeleton morphology	1836	SLC26A2	ORPHA:56304
HP:0011821	Abnormal facial skeleton morphology	1836	SLC26A2	OMIM:256050
HP:0011821	Abnormal facial skeleton morphology	1836	SLC26A2	ORPHA:93298
HP:0011821	Abnormal facial skeleton morphology	1836	SLC26A2	ORPHA:628
HP:0011821	Abnormal facial skeleton morphology	1836	SLC26A2	ORPHA:93307
HP:0011821	Abnormal facial skeleton morphology	6662	SOX9	ORPHA:140
HP:0011821	Abnormal facial skeleton morphology	6662	SOX9	OMIM:114290
HP:0011821	Abnormal facial skeleton morphology	6662	SOX9	ORPHA:718
HP:0011821	Abnormal facial skeleton morphology	5932	RBBP8	OMIM:606744
HP:0011821	Abnormal facial skeleton morphology	5932	RBBP8	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	2073	ERCC5	OMIM:616570
HP:0011821	Abnormal facial skeleton morphology	2073	ERCC5	ORPHA:1466
HP:0011821	Abnormal facial skeleton morphology	9578	CDC42BPB	OMIM:619841
HP:0011821	Abnormal facial skeleton morphology	80816	ASXL3	OMIM:615485
HP:0011821	Abnormal facial skeleton morphology	1855	DVL1	OMIM:616331
HP:0011821	Abnormal facial skeleton morphology	1855	DVL1	OMIM:180700
HP:0011821	Abnormal facial skeleton morphology	1855	DVL1	ORPHA:3107
HP:0011821	Abnormal facial skeleton morphology	27245	AHDC1	ORPHA:412069
HP:0011821	Abnormal facial skeleton morphology	27245	AHDC1	OMIM:615829
HP:0011821	Abnormal facial skeleton morphology	23426	GRIP1	OMIM:617667
HP:0011821	Abnormal facial skeleton morphology	10084	PQBP1	ORPHA:93946
HP:0011821	Abnormal facial skeleton morphology	10084	PQBP1	OMIM:309500
HP:0011821	Abnormal facial skeleton morphology	57082	KNL1	OMIM:604321
HP:0011821	Abnormal facial skeleton morphology	79158	GNPTAB	OMIM:252500
HP:0011821	Abnormal facial skeleton morphology	284403	WDR62	OMIM:604317
HP:0011821	Abnormal facial skeleton morphology	1513	CTSK	OMIM:265800
HP:0011821	Abnormal facial skeleton morphology	1513	CTSK	ORPHA:763
HP:0011821	Abnormal facial skeleton morphology	55154	MSTO1	OMIM:617675
HP:0011821	Abnormal facial skeleton morphology	55154	MSTO1	ORPHA:502423
HP:0011821	Abnormal facial skeleton morphology	54453	RIN2	OMIM:613075
HP:0011821	Abnormal facial skeleton morphology	1020	CDK5	OMIM:616342
HP:0011821	Abnormal facial skeleton morphology	79029	AFG2B	OMIM:619616
HP:0011821	Abnormal facial skeleton morphology	64359	NXN	OMIM:618529
HP:0011821	Abnormal facial skeleton morphology	64359	NXN	ORPHA:1507
HP:0011821	Abnormal facial skeleton morphology	9968	MED12	ORPHA:93932
HP:0011821	Abnormal facial skeleton morphology	9968	MED12	ORPHA:776
HP:0011821	Abnormal facial skeleton morphology	9968	MED12	OMIM:309520
HP:0011821	Abnormal facial skeleton morphology	9968	MED12	OMIM:305450
HP:0011821	Abnormal facial skeleton morphology	9968	MED12	OMIM:300895
HP:0011821	Abnormal facial skeleton morphology	55681	SCYL2	OMIM:618766
HP:0011821	Abnormal facial skeleton morphology	55681	SCYL2	ORPHA:1143
HP:0011821	Abnormal facial skeleton morphology	4604	MYBPC1	OMIM:618524
HP:0011821	Abnormal facial skeleton morphology	5191	PEX7	OMIM:215100
HP:0011821	Abnormal facial skeleton morphology	3339	HSPG2	ORPHA:1865
HP:0011821	Abnormal facial skeleton morphology	3339	HSPG2	OMIM:255800
HP:0011821	Abnormal facial skeleton morphology	3339	HSPG2	OMIM:224410
HP:0011821	Abnormal facial skeleton morphology	3339	HSPG2	ORPHA:800
HP:0011821	Abnormal facial skeleton morphology	2697	GJA1	ORPHA:2710
HP:0011821	Abnormal facial skeleton morphology	2697	GJA1	OMIM:257850
HP:0011821	Abnormal facial skeleton morphology	9401	RECQL4	OMIM:218600
HP:0011821	Abnormal facial skeleton morphology	9401	RECQL4	OMIM:268400
HP:0011821	Abnormal facial skeleton morphology	9401	RECQL4	ORPHA:1225
HP:0011821	Abnormal facial skeleton morphology	171023	ASXL1	ORPHA:97297
HP:0011821	Abnormal facial skeleton morphology	171023	ASXL1	OMIM:605039
HP:0011821	Abnormal facial skeleton morphology	23327	NEDD4L	OMIM:617201
HP:0011821	Abnormal facial skeleton morphology	89910	UBE3B	ORPHA:2707
HP:0011821	Abnormal facial skeleton morphology	89910	UBE3B	OMIM:244450
HP:0011821	Abnormal facial skeleton morphology	11285	B4GALT7	OMIM:130070
HP:0011821	Abnormal facial skeleton morphology	26038	CHD5	OMIM:619873
HP:0011821	Abnormal facial skeleton morphology	5034	P4HB	OMIM:112240
HP:0011821	Abnormal facial skeleton morphology	5034	P4HB	ORPHA:2050
HP:0011821	Abnormal facial skeleton morphology	6905	TBCE	OMIM:241410
HP:0011821	Abnormal facial skeleton morphology	6905	TBCE	ORPHA:2323
HP:0011821	Abnormal facial skeleton morphology	23126	POGZ	OMIM:616364
HP:0011821	Abnormal facial skeleton morphology	79770	TXNDC15	OMIM:619879
HP:0011821	Abnormal facial skeleton morphology	79770	TXNDC15	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	9091	PIGQ	OMIM:618548
HP:0011821	Abnormal facial skeleton morphology	5728	PTEN	ORPHA:109
HP:0011821	Abnormal facial skeleton morphology	5728	PTEN	OMIM:158350
HP:0011821	Abnormal facial skeleton morphology	55210	ATAD3A	ORPHA:496790
HP:0011821	Abnormal facial skeleton morphology	55210	ATAD3A	OMIM:617183
HP:0011821	Abnormal facial skeleton morphology	55210	ATAD3A	OMIM:618810
HP:0011821	Abnormal facial skeleton morphology	8818	DPM2	OMIM:615042
HP:0011821	Abnormal facial skeleton morphology	8818	DPM2	ORPHA:329178
HP:0011821	Abnormal facial skeleton morphology	4285	MIPEP	OMIM:617228
HP:0011821	Abnormal facial skeleton morphology	163175	LGI4	OMIM:617468
HP:0011821	Abnormal facial skeleton morphology	79971	WLS	OMIM:619648
HP:0011821	Abnormal facial skeleton morphology	79633	FAT4	ORPHA:314679
HP:0011821	Abnormal facial skeleton morphology	79633	FAT4	OMIM:615546
HP:0011821	Abnormal facial skeleton morphology	8642	DCHS1	ORPHA:314679
HP:0011821	Abnormal facial skeleton morphology	8642	DCHS1	OMIM:601390
HP:0011821	Abnormal facial skeleton morphology	56975	FAM20C	ORPHA:1832
HP:0011821	Abnormal facial skeleton morphology	56975	FAM20C	OMIM:259775
HP:0011821	Abnormal facial skeleton morphology	3930	LBR	OMIM:215140
HP:0011821	Abnormal facial skeleton morphology	3930	LBR	ORPHA:1426
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	ORPHA:280365
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	ORPHA:740
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	ORPHA:1662
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	OMIM:248370
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	OMIM:176670
HP:0011821	Abnormal facial skeleton morphology	4000	LMNA	ORPHA:79474
HP:0011821	Abnormal facial skeleton morphology	23483	TGDS	OMIM:616145
HP:0011821	Abnormal facial skeleton morphology	23483	TGDS	ORPHA:1388
HP:0011821	Abnormal facial skeleton morphology	84168	ANTXR1	OMIM:230740
HP:0011821	Abnormal facial skeleton morphology	84168	ANTXR1	ORPHA:2067
HP:0011821	Abnormal facial skeleton morphology	64919	BCL11B	OMIM:617237
HP:0011821	Abnormal facial skeleton morphology	25836	NIPBL	OMIM:122470
HP:0011821	Abnormal facial skeleton morphology	25836	NIPBL	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	6885	MAP3K7	ORPHA:1826
HP:0011821	Abnormal facial skeleton morphology	641	BLM	ORPHA:125
HP:0011821	Abnormal facial skeleton morphology	6135	RPL11	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6138	RPL15	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6229	RPS24	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6125	RPL5	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6125	RPL5	OMIM:612561
HP:0011821	Abnormal facial skeleton morphology	6204	RPS10	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6224	RPS20	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6165	RPL35A	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	2623	GATA1	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6223	RPS19	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6223	RPS19	OMIM:105650
HP:0011821	Abnormal facial skeleton morphology	6232	RPS27	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6231	RPS26	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6231	RPS26	OMIM:613309
HP:0011821	Abnormal facial skeleton morphology	11224	RPL35	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6160	RPL31	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6218	RPS17	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6201	RPS7	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6155	RPL27	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6154	RPL26	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6210	RPS15A	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	90121	TSR2	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	90121	TSR2	OMIM:300946
HP:0011821	Abnormal facial skeleton morphology	6141	RPL18	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6235	RPS29	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6234	RPS28	ORPHA:124
HP:0011821	Abnormal facial skeleton morphology	6234	RPS28	OMIM:606164
HP:0011821	Abnormal facial skeleton morphology	25970	SH2B1	ORPHA:261197
HP:0011821	Abnormal facial skeleton morphology	1387	CREBBP	OMIM:618332
HP:0011821	Abnormal facial skeleton morphology	1387	CREBBP	OMIM:180849
HP:0011821	Abnormal facial skeleton morphology	1387	CREBBP	ORPHA:353277
HP:0011821	Abnormal facial skeleton morphology	2033	EP300	OMIM:618333
HP:0011821	Abnormal facial skeleton morphology	2033	EP300	OMIM:613684
HP:0011821	Abnormal facial skeleton morphology	2033	EP300	ORPHA:353284
HP:0011821	Abnormal facial skeleton morphology	2033	EP300	OMIM:180849
HP:0011821	Abnormal facial skeleton morphology	9742	IFT140	OMIM:266920
HP:0011821	Abnormal facial skeleton morphology	5881	RAC3	OMIM:618577
HP:0011821	Abnormal facial skeleton morphology	54101	RIPK4	OMIM:263650
HP:0011821	Abnormal facial skeleton morphology	54101	RIPK4	ORPHA:1234
HP:0011821	Abnormal facial skeleton morphology	9427	ECEL1	OMIM:615065
HP:0011821	Abnormal facial skeleton morphology	7227	TRPS1	OMIM:190350
HP:0011821	Abnormal facial skeleton morphology	7227	TRPS1	ORPHA:77258
HP:0011821	Abnormal facial skeleton morphology	7046	TGFBR1	OMIM:609192
HP:0011821	Abnormal facial skeleton morphology	7046	TGFBR1	ORPHA:60030
HP:0011821	Abnormal facial skeleton morphology	5426	POLE	OMIM:618336
HP:0011821	Abnormal facial skeleton morphology	5081	PAX7	OMIM:618578
HP:0011821	Abnormal facial skeleton morphology	389827	MYMK	OMIM:254940
HP:0011821	Abnormal facial skeleton morphology	389827	MYMK	ORPHA:1358
HP:0011821	Abnormal facial skeleton morphology	5813	PURA	ORPHA:314655
HP:0011821	Abnormal facial skeleton morphology	9949	AMMECR1	OMIM:300990
HP:0011821	Abnormal facial skeleton morphology	3479	IGF1	ORPHA:73272
HP:0011821	Abnormal facial skeleton morphology	3479	IGF1	OMIM:608747
HP:0011821	Abnormal facial skeleton morphology	4921	DDR2	OMIM:271665
HP:0011821	Abnormal facial skeleton morphology	22827	PUF60	ORPHA:508498
HP:0011821	Abnormal facial skeleton morphology	9488	PIGB	OMIM:618580
HP:0011821	Abnormal facial skeleton morphology	1281	COL3A1	OMIM:618343
HP:0011821	Abnormal facial skeleton morphology	1281	COL3A1	ORPHA:2500
HP:0011821	Abnormal facial skeleton morphology	54517	PUS7	OMIM:618342
HP:0011821	Abnormal facial skeleton morphology	8573	CASK	OMIM:300749
HP:0011821	Abnormal facial skeleton morphology	8573	CASK	ORPHA:163937
HP:0011821	Abnormal facial skeleton morphology	79912	PYROXD1	OMIM:617258
HP:0011821	Abnormal facial skeleton morphology	5396	PRRX1	OMIM:202650
HP:0011821	Abnormal facial skeleton morphology	1798	DPAGT1	OMIM:608093
HP:0011821	Abnormal facial skeleton morphology	57122	NUP107	OMIM:618348
HP:0011821	Abnormal facial skeleton morphology	57122	NUP107	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	57122	NUP107	OMIM:616730
HP:0011821	Abnormal facial skeleton morphology	2200	FBN1	ORPHA:284979
HP:0011821	Abnormal facial skeleton morphology	2200	FBN1	OMIM:154700
HP:0011821	Abnormal facial skeleton morphology	2200	FBN1	ORPHA:2462
HP:0011821	Abnormal facial skeleton morphology	27125	AFF4	ORPHA:444077
HP:0011821	Abnormal facial skeleton morphology	10733	PLK4	OMIM:616171
HP:0011821	Abnormal facial skeleton morphology	10733	PLK4	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	2972	BRF1	ORPHA:444072
HP:0011821	Abnormal facial skeleton morphology	91754	NEK9	OMIM:617022
HP:0011821	Abnormal facial skeleton morphology	23114	NFASC	OMIM:618356
HP:0011821	Abnormal facial skeleton morphology	6492	SIM1	ORPHA:171829
HP:0011821	Abnormal facial skeleton morphology	51114	ZDHHC9	ORPHA:776
HP:0011821	Abnormal facial skeleton morphology	65109	UPF3B	ORPHA:776
HP:0011821	Abnormal facial skeleton morphology	4952	OCRL	ORPHA:534
HP:0011821	Abnormal facial skeleton morphology	29954	POMT2	OMIM:236670
HP:0011821	Abnormal facial skeleton morphology	9215	LARGE1	OMIM:236670
HP:0011821	Abnormal facial skeleton morphology	79147	FKRP	OMIM:236670
HP:0011821	Abnormal facial skeleton morphology	10585	POMT1	OMIM:236670
HP:0011821	Abnormal facial skeleton morphology	2218	FKTN	OMIM:236670
HP:0011821	Abnormal facial skeleton morphology	473	RERE	ORPHA:494344
HP:0011821	Abnormal facial skeleton morphology	473	RERE	OMIM:616975
HP:0011821	Abnormal facial skeleton morphology	55777	MBD5	OMIM:156200
HP:0011821	Abnormal facial skeleton morphology	5980	REV3L	ORPHA:570
HP:0011821	Abnormal facial skeleton morphology	23129	PLXND1	ORPHA:570
HP:0011821	Abnormal facial skeleton morphology	3039	HBA1	ORPHA:98791
HP:0011821	Abnormal facial skeleton morphology	3040	HBA2	ORPHA:98791
HP:0011821	Abnormal facial skeleton morphology	51132	RLIM	OMIM:300978
HP:0011821	Abnormal facial skeleton morphology	63925	ZNF335	OMIM:615095
HP:0011821	Abnormal facial skeleton morphology	22930	RAB3GAP1	OMIM:600118
HP:0011821	Abnormal facial skeleton morphology	22930	RAB3GAP1	ORPHA:2510
HP:0011821	Abnormal facial skeleton morphology	22930	RAB3GAP1	ORPHA:1387
HP:0011821	Abnormal facial skeleton morphology	51434	ANAPC7	OMIM:619699
HP:0011821	Abnormal facial skeleton morphology	4998	ORC1	OMIM:224690
HP:0011821	Abnormal facial skeleton morphology	4998	ORC1	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	92255	LMBRD2	OMIM:619694
HP:0011821	Abnormal facial skeleton morphology	84068	SLC10A7	OMIM:618363
HP:0011821	Abnormal facial skeleton morphology	7468	NSD2	OMIM:619695
HP:0011821	Abnormal facial skeleton morphology	7468	NSD2	OMIM:194190
HP:0011821	Abnormal facial skeleton morphology	7468	NSD2	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	201163	FLCN	OMIM:610883
HP:0011821	Abnormal facial skeleton morphology	1312	COMT	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	221037	JMJD1C	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	2812	GP1BB	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	6239	RREB1	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	7290	HIRA	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	9632	SEC24C	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	7353	UFD1	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	421	ARVCF	ORPHA:567
HP:0011821	Abnormal facial skeleton morphology	7136	TNNI2	OMIM:601680
HP:0011821	Abnormal facial skeleton morphology	7136	TNNI2	ORPHA:1147
HP:0011821	Abnormal facial skeleton morphology	538	ATP7A	ORPHA:565
HP:0011821	Abnormal facial skeleton morphology	84314	TMEM107	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	84314	TMEM107	OMIM:617562
HP:0011821	Abnormal facial skeleton morphology	26123	TCTN3	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	26123	TCTN3	OMIM:258860
HP:0011821	Abnormal facial skeleton morphology	26123	TCTN3	ORPHA:2753
HP:0011821	Abnormal facial skeleton morphology	26123	TCTN3	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	79867	TCTN2	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	80776	B9D2	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	79600	TCTN1	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	57096	RPGRIP1	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	80184	CEP290	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	51259	TMEM216	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	51259	TMEM216	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	57545	CC2D2A	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	79583	TMEM231	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	91147	TMEM67	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	27077	B9D1	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	23322	RPGRIP1L	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	54903	MKS1	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	54903	MKS1	OMIM:249000
HP:0011821	Abnormal facial skeleton morphology	65062	TMEM237	ORPHA:564
HP:0011821	Abnormal facial skeleton morphology	7317	UBA1	OMIM:301830
HP:0011821	Abnormal facial skeleton morphology	3188	HNRNPH2	OMIM:300986
HP:0011821	Abnormal facial skeleton morphology	4613	MYCN	OMIM:164280
HP:0011821	Abnormal facial skeleton morphology	4613	MYCN	ORPHA:391641
HP:0011821	Abnormal facial skeleton morphology	26040	SETBP1	ORPHA:798
HP:0011821	Abnormal facial skeleton morphology	4927	NUP88	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	4927	NUP88	OMIM:618393
HP:0011821	Abnormal facial skeleton morphology	7846	TUBA1A	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	4654	MYOD1	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	4593	MUSK	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	4593	MUSK	OMIM:208150
HP:0011821	Abnormal facial skeleton morphology	5913	RAPSN	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	5913	RAPSN	OMIM:618388
HP:0011821	Abnormal facial skeleton morphology	6572	SLC18A3	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	285489	DOK7	ORPHA:994
HP:0011821	Abnormal facial skeleton morphology	285489	DOK7	OMIM:618389
HP:0011821	Abnormal facial skeleton morphology	50801	KCNK4	OMIM:618381
HP:0011821	Abnormal facial skeleton morphology	65250	CPLANE1	OMIM:277170
HP:0011821	Abnormal facial skeleton morphology	65250	CPLANE1	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	57061	HYMAI	ORPHA:96191
HP:0011821	Abnormal facial skeleton morphology	5325	PLAGL1	ORPHA:96191
HP:0011821	Abnormal facial skeleton morphology	10526	IPO8	OMIM:619472
HP:0011821	Abnormal facial skeleton morphology	10526	IPO8	ORPHA:60030
HP:0011821	Abnormal facial skeleton morphology	348180	CTU2	OMIM:618142
HP:0011821	Abnormal facial skeleton morphology	6608	SMO	OMIM:241800
HP:0011821	Abnormal facial skeleton morphology	80036	TRPM3	OMIM:620224
HP:0011821	Abnormal facial skeleton morphology	10283	CWC27	ORPHA:166035
HP:0011821	Abnormal facial skeleton morphology	10283	CWC27	OMIM:250410
HP:0011821	Abnormal facial skeleton morphology	388015	RTL1	ORPHA:96184
HP:0011821	Abnormal facial skeleton morphology	388015	RTL1	ORPHA:96334
HP:0011821	Abnormal facial skeleton morphology	388015	RTL1	ORPHA:254531
HP:0011821	Abnormal facial skeleton morphology	388015	RTL1	ORPHA:254525
HP:0011821	Abnormal facial skeleton morphology	8788	DLK1	ORPHA:96184
HP:0011821	Abnormal facial skeleton morphology	8788	DLK1	ORPHA:96334
HP:0011821	Abnormal facial skeleton morphology	8788	DLK1	ORPHA:254531
HP:0011821	Abnormal facial skeleton morphology	8788	DLK1	ORPHA:254525
HP:0011821	Abnormal facial skeleton morphology	55384	MEG3	ORPHA:96184
HP:0011821	Abnormal facial skeleton morphology	55384	MEG3	ORPHA:96334
HP:0011821	Abnormal facial skeleton morphology	55384	MEG3	ORPHA:254531
HP:0011821	Abnormal facial skeleton morphology	55384	MEG3	ORPHA:254525
HP:0011821	Abnormal facial skeleton morphology	2887	GRB10	ORPHA:96182
HP:0011821	Abnormal facial skeleton morphology	25839	COG4	OMIM:618150
HP:0011821	Abnormal facial skeleton morphology	10269	ZMPSTE24	ORPHA:740
HP:0011821	Abnormal facial skeleton morphology	10269	ZMPSTE24	ORPHA:90154
HP:0011821	Abnormal facial skeleton morphology	10269	ZMPSTE24	ORPHA:1662
HP:0011821	Abnormal facial skeleton morphology	10269	ZMPSTE24	OMIM:608612
HP:0011821	Abnormal facial skeleton morphology	10269	ZMPSTE24	OMIM:275210
HP:0011821	Abnormal facial skeleton morphology	10682	EBP	OMIM:300960
HP:0011821	Abnormal facial skeleton morphology	10682	EBP	ORPHA:401973
HP:0011821	Abnormal facial skeleton morphology	1457	CSNK2A1	OMIM:617062
HP:0011821	Abnormal facial skeleton morphology	7204	TRIO	OMIM:617061
HP:0011821	Abnormal facial skeleton morphology	7204	TRIO	ORPHA:476126
HP:0011821	Abnormal facial skeleton morphology	2222	FDFT1	OMIM:618156
HP:0011821	Abnormal facial skeleton morphology	203068	TUBB	OMIM:156610
HP:0011821	Abnormal facial skeleton morphology	203068	TUBB	ORPHA:2505
HP:0011821	Abnormal facial skeleton morphology	374879	ZNF699	OMIM:619488
HP:0011821	Abnormal facial skeleton morphology	8567	MADD	OMIM:619005
HP:0011821	Abnormal facial skeleton morphology	55640	FLVCR2	OMIM:225790
HP:0011821	Abnormal facial skeleton morphology	23112	TNRC6B	OMIM:619243
HP:0011821	Abnormal facial skeleton morphology	9373	PLAA	ORPHA:521426
HP:0011821	Abnormal facial skeleton morphology	9373	PLAA	OMIM:617527
HP:0011821	Abnormal facial skeleton morphology	93587	TRMT10A	ORPHA:391408
HP:0011821	Abnormal facial skeleton morphology	84919	PPP1R15B	ORPHA:391408
HP:0011821	Abnormal facial skeleton morphology	84919	PPP1R15B	OMIM:616817
HP:0011821	Abnormal facial skeleton morphology	199221	DZIP1L	ORPHA:731
HP:0011821	Abnormal facial skeleton morphology	5314	PKHD1	ORPHA:731
HP:0011821	Abnormal facial skeleton morphology	60386	SLC25A19	OMIM:607196
HP:0011821	Abnormal facial skeleton morphology	60386	SLC25A19	ORPHA:99742
HP:0011821	Abnormal facial skeleton morphology	126792	B3GALT6	OMIM:271640
HP:0011821	Abnormal facial skeleton morphology	126792	B3GALT6	OMIM:609465
HP:0011821	Abnormal facial skeleton morphology	126792	B3GALT6	ORPHA:93359
HP:0011821	Abnormal facial skeleton morphology	126792	B3GALT6	ORPHA:536467
HP:0011821	Abnormal facial skeleton morphology	10436	EMG1	OMIM:211180
HP:0011821	Abnormal facial skeleton morphology	10436	EMG1	ORPHA:1270
HP:0011821	Abnormal facial skeleton morphology	5745	PTH1R	OMIM:156400
HP:0011821	Abnormal facial skeleton morphology	5745	PTH1R	OMIM:215045
HP:0011821	Abnormal facial skeleton morphology	5745	PTH1R	ORPHA:50945
HP:0011821	Abnormal facial skeleton morphology	6748	SSR4	OMIM:300934
HP:0011821	Abnormal facial skeleton morphology	84464	SLX4	OMIM:613951
HP:0011821	Abnormal facial skeleton morphology	84464	SLX4	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	5557	PRIM1	OMIM:620005
HP:0011821	Abnormal facial skeleton morphology	219844	HYLS1	OMIM:236680
HP:0011821	Abnormal facial skeleton morphology	219844	HYLS1	ORPHA:2189
HP:0011821	Abnormal facial skeleton morphology	7474	WNT5A	OMIM:180700
HP:0011821	Abnormal facial skeleton morphology	7474	WNT5A	ORPHA:3107
HP:0011821	Abnormal facial skeleton morphology	2801	GOLGA2	OMIM:620240
HP:0011821	Abnormal facial skeleton morphology	9897	WASHC5	ORPHA:7
HP:0011821	Abnormal facial skeleton morphology	9897	WASHC5	OMIM:220210
HP:0011821	Abnormal facial skeleton morphology	28952	CCDC22	ORPHA:7
HP:0011821	Abnormal facial skeleton morphology	114034	TOE1	ORPHA:284339
HP:0011821	Abnormal facial skeleton morphology	114034	TOE1	OMIM:614969
HP:0011821	Abnormal facial skeleton morphology	9562	MINPP1	ORPHA:284339
HP:0011821	Abnormal facial skeleton morphology	55181	SMG8	OMIM:619268
HP:0011821	Abnormal facial skeleton morphology	51109	RDH11	ORPHA:436245
HP:0011821	Abnormal facial skeleton morphology	51002	TPRKB	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	84942	WDR73	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	84942	WDR73	OMIM:251300
HP:0011821	Abnormal facial skeleton morphology	55644	OSGEP	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	55644	OSGEP	OMIM:617729
HP:0011821	Abnormal facial skeleton morphology	10785	WDR4	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	55746	NUP133	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	112858	TP53RK	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	8270	LAGE3	ORPHA:2065
HP:0011821	Abnormal facial skeleton morphology	8270	LAGE3	OMIM:301006
HP:0011821	Abnormal facial skeleton morphology	8085	KMT2D	OMIM:147920
HP:0011821	Abnormal facial skeleton morphology	8085	KMT2D	OMIM:620186
HP:0011821	Abnormal facial skeleton morphology	7403	KDM6A	OMIM:147920
HP:0011821	Abnormal facial skeleton morphology	7403	KDM6A	OMIM:300867
HP:0011821	Abnormal facial skeleton morphology	168667	BMPER	OMIM:608022
HP:0011821	Abnormal facial skeleton morphology	8243	SMC1A	OMIM:300590
HP:0011821	Abnormal facial skeleton morphology	8243	SMC1A	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	2294	FOXF1	OMIM:265380
HP:0011821	Abnormal facial skeleton morphology	324	APC	ORPHA:261584
HP:0011821	Abnormal facial skeleton morphology	6309	SC5D	ORPHA:46059
HP:0011821	Abnormal facial skeleton morphology	6309	SC5D	OMIM:607330
HP:0011821	Abnormal facial skeleton morphology	161742	SPRED1	OMIM:611431
HP:0011821	Abnormal facial skeleton morphology	57539	WDR35	OMIM:613610
HP:0011821	Abnormal facial skeleton morphology	57539	WDR35	ORPHA:93271
HP:0011821	Abnormal facial skeleton morphology	7518	XRCC4	ORPHA:99812
HP:0011821	Abnormal facial skeleton morphology	7518	XRCC4	ORPHA:436182
HP:0011821	Abnormal facial skeleton morphology	1303	COL12A1	ORPHA:75840
HP:0011821	Abnormal facial skeleton morphology	1303	COL12A1	ORPHA:536516
HP:0011821	Abnormal facial skeleton morphology	1291	COL6A1	ORPHA:75840
HP:0011821	Abnormal facial skeleton morphology	1292	COL6A2	ORPHA:75840
HP:0011821	Abnormal facial skeleton morphology	1293	COL6A3	ORPHA:75840
HP:0011821	Abnormal facial skeleton morphology	4784	NFIX	ORPHA:447980
HP:0011821	Abnormal facial skeleton morphology	55112	DYNC2I1	ORPHA:93271
HP:0011821	Abnormal facial skeleton morphology	57560	IFT80	ORPHA:93271
HP:0011821	Abnormal facial skeleton morphology	79659	DYNC2H1	ORPHA:93271
HP:0011821	Abnormal facial skeleton morphology	89891	DYNC2I2	ORPHA:93271
HP:0011821	Abnormal facial skeleton morphology	80232	WDR26	ORPHA:513456
HP:0011821	Abnormal facial skeleton morphology	80232	WDR26	OMIM:617616
HP:0011821	Abnormal facial skeleton morphology	2314	FLII	ORPHA:819
HP:0011821	Abnormal facial skeleton morphology	23096	IQSEC2	ORPHA:819
HP:0011821	Abnormal facial skeleton morphology	23096	IQSEC2	ORPHA:397933
HP:0011821	Abnormal facial skeleton morphology	10743	RAI1	ORPHA:819
HP:0011821	Abnormal facial skeleton morphology	10743	RAI1	ORPHA:1713
HP:0011821	Abnormal facial skeleton morphology	10522	DEAF1	ORPHA:819
HP:0011821	Abnormal facial skeleton morphology	1717	DHCR7	ORPHA:818
HP:0011821	Abnormal facial skeleton morphology	1717	DHCR7	OMIM:270400
HP:0011821	Abnormal facial skeleton morphology	29072	SETD2	OMIM:620157
HP:0011821	Abnormal facial skeleton morphology	29072	SETD2	OMIM:620155
HP:0011821	Abnormal facial skeleton morphology	55780	ERMARD	ORPHA:75857
HP:0011821	Abnormal facial skeleton morphology	10225	CD96	OMIM:211750
HP:0011821	Abnormal facial skeleton morphology	10225	CD96	ORPHA:1308
HP:0011821	Abnormal facial skeleton morphology	26153	KIF26A	OMIM:620156
HP:0011821	Abnormal facial skeleton morphology	9382	COG1	OMIM:611209
HP:0011821	Abnormal facial skeleton morphology	9382	COG1	ORPHA:263508
HP:0011821	Abnormal facial skeleton morphology	1763	DNA2	OMIM:615807
HP:0011821	Abnormal facial skeleton morphology	25778	DSTYK	OMIM:270750
HP:0011821	Abnormal facial skeleton morphology	84992	PIGY	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	84720	PIGO	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	93210	PGAP3	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	284098	PIGW	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	27315	PGAP2	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	55650	PIGV	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	9487	PIGL	ORPHA:247262
HP:0011821	Abnormal facial skeleton morphology	50814	NSDHL	OMIM:308050
HP:0011821	Abnormal facial skeleton morphology	50814	NSDHL	OMIM:300831
HP:0011821	Abnormal facial skeleton morphology	23522	KAT6B	OMIM:606170
HP:0011821	Abnormal facial skeleton morphology	23522	KAT6B	ORPHA:85201
HP:0011821	Abnormal facial skeleton morphology	23522	KAT6B	OMIM:603736
HP:0011821	Abnormal facial skeleton morphology	23522	KAT6B	ORPHA:3047
HP:0011821	Abnormal facial skeleton morphology	1801	DPH1	OMIM:616901
HP:0011821	Abnormal facial skeleton morphology	1801	DPH1	ORPHA:459061
HP:0011821	Abnormal facial skeleton morphology	672	BRCA1	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	10459	MAD2L2	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	7516	XRCC2	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	29089	UBE2T	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	675	BRCA2	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	55120	FANCL	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	55120	FANCL	OMIM:614083
HP:0011821	Abnormal facial skeleton morphology	2177	FANCD2	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2175	FANCA	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2187	FANCB	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2187	FANCB	ORPHA:3412
HP:0011821	Abnormal facial skeleton morphology	2176	FANCC	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2178	FANCE	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2188	FANCF	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2189	FANCG	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	5888	RAD51	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	5889	RAD51C	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	55159	RFWD3	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	83990	BRIP1	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	57697	FANCM	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	79728	PALB2	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	2072	ERCC4	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	55215	FANCI	ORPHA:84
HP:0011821	Abnormal facial skeleton morphology	9896	FIG4	ORPHA:3472
HP:0011821	Abnormal facial skeleton morphology	9896	FIG4	OMIM:216340
HP:0011821	Abnormal facial skeleton morphology	55697	VAC14	ORPHA:3472
HP:0011821	Abnormal facial skeleton morphology	9184	BUB3	ORPHA:1052
HP:0011821	Abnormal facial skeleton morphology	699	BUB1	ORPHA:1052
HP:0011821	Abnormal facial skeleton morphology	9702	CEP57	ORPHA:1052
HP:0011821	Abnormal facial skeleton morphology	9702	CEP57	OMIM:614114
HP:0011821	Abnormal facial skeleton morphology	9319	TRIP13	ORPHA:1052
HP:0011821	Abnormal facial skeleton morphology	701	BUB1B	ORPHA:1052
HP:0011821	Abnormal facial skeleton morphology	701	BUB1B	OMIM:257300
HP:0011821	Abnormal facial skeleton morphology	23036	ZNF292	OMIM:619188
HP:0011821	Abnormal facial skeleton morphology	23314	SATB2	OMIM:612313
HP:0011821	Abnormal facial skeleton morphology	23314	SATB2	ORPHA:576283
HP:0011821	Abnormal facial skeleton morphology	23314	SATB2	ORPHA:251028
HP:0011821	Abnormal facial skeleton morphology	23314	SATB2	ORPHA:251019
HP:0011821	Abnormal facial skeleton morphology	1906	EDN1	ORPHA:137888
HP:0011821	Abnormal facial skeleton morphology	1906	EDN1	OMIM:615706
HP:0011821	Abnormal facial skeleton morphology	5332	PLCB4	ORPHA:137888
HP:0011821	Abnormal facial skeleton morphology	5332	PLCB4	OMIM:614669
HP:0011821	Abnormal facial skeleton morphology	2773	GNAI3	ORPHA:137888
HP:0011821	Abnormal facial skeleton morphology	2773	GNAI3	OMIM:602483
HP:0011821	Abnormal facial skeleton morphology	526	ATP6V1B2	ORPHA:3473
HP:0011821	Abnormal facial skeleton morphology	3756	KCNH1	ORPHA:3473
HP:0011821	Abnormal facial skeleton morphology	3782	KCNN3	ORPHA:3473
HP:0011821	Abnormal facial skeleton morphology	53834	FGFRL1	OMIM:194190
HP:0011821	Abnormal facial skeleton morphology	1487	CTBP1	OMIM:194190
HP:0011821	Abnormal facial skeleton morphology	1487	CTBP1	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	3954	LETM1	OMIM:194190
HP:0011821	Abnormal facial skeleton morphology	3954	LETM1	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	3954	LETM1	OMIM:620089
HP:0011821	Abnormal facial skeleton morphology	10815	CPLX1	OMIM:194190
HP:0011821	Abnormal facial skeleton morphology	10815	CPLX1	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	165	AEBP1	ORPHA:536532
HP:0011821	Abnormal facial skeleton morphology	165	AEBP1	OMIM:618000
HP:0011821	Abnormal facial skeleton morphology	3425	IDUA	OMIM:607015
HP:0011821	Abnormal facial skeleton morphology	3192	HNRNPU	ORPHA:238769
HP:0011821	Abnormal facial skeleton morphology	26053	AUTS2	OMIM:615834
HP:0011821	Abnormal facial skeleton morphology	26053	AUTS2	ORPHA:352490
HP:0011821	Abnormal facial skeleton morphology	10013	HDAC6	ORPHA:163966
HP:0011821	Abnormal facial skeleton morphology	79753	SNIP1	OMIM:614501
HP:0011821	Abnormal facial skeleton morphology	3211	HOXB1	OMIM:614744
HP:0011821	Abnormal facial skeleton morphology	11128	POLR3A	OMIM:264090
HP:0011821	Abnormal facial skeleton morphology	23137	SMC5	OMIM:620185
HP:0011821	Abnormal facial skeleton morphology	10907	TXNL4A	OMIM:608572
HP:0011821	Abnormal facial skeleton morphology	79759	ZNF668	OMIM:620194
HP:0011821	Abnormal facial skeleton morphology	57459	GATAD2B	ORPHA:363686
HP:0011821	Abnormal facial skeleton morphology	6473	SHOX	OMIM:249700
HP:0011821	Abnormal facial skeleton morphology	6473	SHOX	ORPHA:314795
HP:0011821	Abnormal facial skeleton morphology	81887	LAS1L	ORPHA:3459
HP:0011821	Abnormal facial skeleton morphology	55869	HDAC8	ORPHA:3459
HP:0011821	Abnormal facial skeleton morphology	55869	HDAC8	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	55869	HDAC8	OMIM:300882
HP:0011821	Abnormal facial skeleton morphology	23261	CAMTA1	OMIM:614756
HP:0011821	Abnormal facial skeleton morphology	10472	ZBTB18	OMIM:612337
HP:0011821	Abnormal facial skeleton morphology	10472	ZBTB18	ORPHA:36367
HP:0011821	Abnormal facial skeleton morphology	2261	FGFR3	ORPHA:2363
HP:0011821	Abnormal facial skeleton morphology	2255	FGF10	ORPHA:2363
HP:0011821	Abnormal facial skeleton morphology	2535	FZD2	OMIM:164745
HP:0011821	Abnormal facial skeleton morphology	2535	FZD2	ORPHA:3107
HP:0011821	Abnormal facial skeleton morphology	2535	FZD2	ORPHA:93328
HP:0011821	Abnormal facial skeleton morphology	8813	DPM1	OMIM:608799
HP:0011821	Abnormal facial skeleton morphology	8813	DPM1	ORPHA:79322
HP:0011821	Abnormal facial skeleton morphology	8242	KDM5C	OMIM:300534
HP:0011821	Abnormal facial skeleton morphology	546	ATRX	OMIM:309580
HP:0011821	Abnormal facial skeleton morphology	55275	VPS53	OMIM:615851
HP:0011821	Abnormal facial skeleton morphology	7048	TGFBR2	OMIM:610168
HP:0011821	Abnormal facial skeleton morphology	7048	TGFBR2	ORPHA:60030
HP:0011821	Abnormal facial skeleton morphology	545	ATR	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	545	ATR	OMIM:210600
HP:0011821	Abnormal facial skeleton morphology	1062	CENPE	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	1062	CENPE	OMIM:616051
HP:0011821	Abnormal facial skeleton morphology	5116	PCNT	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	79902	NUP85	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	84126	ATRIP	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	55835	CENPJ	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	10293	TRAIP	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	10293	TRAIP	OMIM:616777
HP:0011821	Abnormal facial skeleton morphology	22995	CEP152	ORPHA:808
HP:0011821	Abnormal facial skeleton morphology	22995	CEP152	OMIM:613823
HP:0011821	Abnormal facial skeleton morphology	1302	COL11A2	OMIM:614524
HP:0011821	Abnormal facial skeleton morphology	1302	COL11A2	ORPHA:1427
HP:0011821	Abnormal facial skeleton morphology	1302	COL11A2	ORPHA:166100
HP:0011821	Abnormal facial skeleton morphology	1302	COL11A2	OMIM:215150
HP:0011821	Abnormal facial skeleton morphology	9321	TRIP11	ORPHA:93299
HP:0011821	Abnormal facial skeleton morphology	80324	PUS1	ORPHA:2598
HP:0011821	Abnormal facial skeleton morphology	80324	PUS1	OMIM:600462
HP:0011821	Abnormal facial skeleton morphology	51067	YARS2	ORPHA:2598
HP:0011821	Abnormal facial skeleton morphology	64324	NSD1	ORPHA:3447
HP:0011821	Abnormal facial skeleton morphology	8726	EED	ORPHA:3447
HP:0011821	Abnormal facial skeleton morphology	23512	SUZ12	ORPHA:3447
HP:0011821	Abnormal facial skeleton morphology	2146	EZH2	ORPHA:3447
HP:0011821	Abnormal facial skeleton morphology	28962	OSTM1	OMIM:259720
HP:0011821	Abnormal facial skeleton morphology	79228	THOC6	OMIM:613680
HP:0011821	Abnormal facial skeleton morphology	2303	FOXC2	OMIM:153400
HP:0011821	Abnormal facial skeleton morphology	7407	VARS1	OMIM:617802
HP:0011821	Abnormal facial skeleton morphology	196528	ARID2	OMIM:617808
HP:0011821	Abnormal facial skeleton morphology	8216	LZTR1	OMIM:605275
HP:0011821	Abnormal facial skeleton morphology	8216	LZTR1	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	56052	ALG1	OMIM:608540
HP:0011821	Abnormal facial skeleton morphology	10075	HUWE1	OMIM:309590
HP:0011821	Abnormal facial skeleton morphology	10159	ATP6AP2	OMIM:301045
HP:0011821	Abnormal facial skeleton morphology	91949	COG7	OMIM:608779
HP:0011821	Abnormal facial skeleton morphology	91949	COG7	ORPHA:79333
HP:0011821	Abnormal facial skeleton morphology	10735	STAG2	OMIM:301043
HP:0011821	Abnormal facial skeleton morphology	10735	STAG2	OMIM:301022
HP:0011821	Abnormal facial skeleton morphology	27238	GPKOW	ORPHA:2570
HP:0011821	Abnormal facial skeleton morphology	22856	CHSY1	ORPHA:363417
HP:0011821	Abnormal facial skeleton morphology	1305	COL13A1	OMIM:616720
HP:0011821	Abnormal facial skeleton morphology	2733	GLE1	ORPHA:1486
HP:0011821	Abnormal facial skeleton morphology	2733	GLE1	OMIM:253310
HP:0011821	Abnormal facial skeleton morphology	2733	GLE1	OMIM:611890
HP:0011821	Abnormal facial skeleton morphology	4854	NOTCH3	OMIM:130720
HP:0011821	Abnormal facial skeleton morphology	4854	NOTCH3	ORPHA:2789
HP:0011821	Abnormal facial skeleton morphology	84162	BLTP1	OMIM:617822
HP:0011821	Abnormal facial skeleton morphology	23291	FBXW11	OMIM:618914
HP:0011821	Abnormal facial skeleton morphology	10982	MAPRE2	OMIM:616734
HP:0011821	Abnormal facial skeleton morphology	10982	MAPRE2	ORPHA:2505
HP:0011821	Abnormal facial skeleton morphology	55906	ZC4H2	OMIM:314580
HP:0011821	Abnormal facial skeleton morphology	2067	ERCC1	ORPHA:1466
HP:0011821	Abnormal facial skeleton morphology	2067	ERCC1	OMIM:610758
HP:0011821	Abnormal facial skeleton morphology	2074	ERCC6	ORPHA:1466
HP:0011821	Abnormal facial skeleton morphology	2074	ERCC6	OMIM:214150
HP:0011821	Abnormal facial skeleton morphology	57211	ADGRG6	OMIM:616503
HP:0011821	Abnormal facial skeleton morphology	259232	NALCN	OMIM:615419
HP:0011821	Abnormal facial skeleton morphology	259232	NALCN	OMIM:616266
HP:0011821	Abnormal facial skeleton morphology	259232	NALCN	ORPHA:1147
HP:0011821	Abnormal facial skeleton morphology	259232	NALCN	ORPHA:371364
HP:0011821	Abnormal facial skeleton morphology	81620	CDT1	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	81620	CDT1	OMIM:613804
HP:0011821	Abnormal facial skeleton morphology	5000	ORC4	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	5000	ORC4	OMIM:613800
HP:0011821	Abnormal facial skeleton morphology	23594	ORC6	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	23594	ORC6	OMIM:613803
HP:0011821	Abnormal facial skeleton morphology	8318	CDC45	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	990	CDC6	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	990	CDC6	OMIM:613805
HP:0011821	Abnormal facial skeleton morphology	51053	GMNN	ORPHA:2554
HP:0011821	Abnormal facial skeleton morphology	54539	NDUFB11	ORPHA:2556
HP:0011821	Abnormal facial skeleton morphology	1349	COX7B	ORPHA:2556
HP:0011821	Abnormal facial skeleton morphology	3052	HCCS	ORPHA:2556
HP:0011821	Abnormal facial skeleton morphology	5723	PSPH	ORPHA:79350
HP:0011821	Abnormal facial skeleton morphology	139285	AMER1	ORPHA:2780
HP:0011821	Abnormal facial skeleton morphology	139285	AMER1	OMIM:300373
HP:0011821	Abnormal facial skeleton morphology	6638	SNRPN	ORPHA:177907
HP:0011821	Abnormal facial skeleton morphology	9343	EFTUD2	ORPHA:79113
HP:0011821	Abnormal facial skeleton morphology	9343	EFTUD2	OMIM:610536
HP:0011821	Abnormal facial skeleton morphology	760	CA2	ORPHA:2785
HP:0011821	Abnormal facial skeleton morphology	23476	BRD4	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	9126	SMC3	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	9126	SMC3	OMIM:610759
HP:0011821	Abnormal facial skeleton morphology	5885	RAD21	ORPHA:199
HP:0011821	Abnormal facial skeleton morphology	9150	CTDP1	ORPHA:48431
HP:0011821	Abnormal facial skeleton morphology	1859	DYRK1A	OMIM:614104
HP:0011821	Abnormal facial skeleton morphology	1861	TOR1A	OMIM:618947
HP:0011821	Abnormal facial skeleton morphology	9935	MAFB	ORPHA:2774
HP:0011821	Abnormal facial skeleton morphology	9935	MAFB	ORPHA:233
HP:0011821	Abnormal facial skeleton morphology	9935	MAFB	OMIM:166300
HP:0011821	Abnormal facial skeleton morphology	5297	PI4KA	OMIM:616531
HP:0011821	Abnormal facial skeleton morphology	5297	PI4KA	ORPHA:98889
HP:0011821	Abnormal facial skeleton morphology	5297	PI4KA	OMIM:619708
HP:0011821	Abnormal facial skeleton morphology	112752	IFT43	OMIM:617866
HP:0011821	Abnormal facial skeleton morphology	112752	IFT43	OMIM:614099
HP:0011821	Abnormal facial skeleton morphology	113246	C12orf57	OMIM:218340
HP:0011821	Abnormal facial skeleton morphology	374654	KIF7	OMIM:614120
HP:0011821	Abnormal facial skeleton morphology	374654	KIF7	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	374654	KIF7	ORPHA:2189
HP:0011821	Abnormal facial skeleton morphology	84700	MYO18B	OMIM:616549
HP:0011821	Abnormal facial skeleton morphology	4621	MYH3	ORPHA:2990
HP:0011821	Abnormal facial skeleton morphology	4621	MYH3	ORPHA:1147
HP:0011821	Abnormal facial skeleton morphology	1146	CHRNG	ORPHA:2990
HP:0011821	Abnormal facial skeleton morphology	1146	CHRNG	OMIM:265000
HP:0011821	Abnormal facial skeleton morphology	1146	CHRNG	OMIM:253290
HP:0011821	Abnormal facial skeleton morphology	9939	RBM8A	OMIM:274000
HP:0011821	Abnormal facial skeleton morphology	9939	RBM8A	ORPHA:3320
HP:0011821	Abnormal facial skeleton morphology	7473	WNT3	OMIM:273395
HP:0011821	Abnormal facial skeleton morphology	7473	WNT3	ORPHA:3301
HP:0011821	Abnormal facial skeleton morphology	4750	NEK1	ORPHA:2751
HP:0011821	Abnormal facial skeleton morphology	25782	RAB3GAP2	ORPHA:2510
HP:0011821	Abnormal facial skeleton morphology	25782	RAB3GAP2	OMIM:212720
HP:0011821	Abnormal facial skeleton morphology	25782	RAB3GAP2	ORPHA:1387
HP:0011821	Abnormal facial skeleton morphology	22931	RAB18	ORPHA:2510
HP:0011821	Abnormal facial skeleton morphology	22931	RAB18	OMIM:614222
HP:0011821	Abnormal facial skeleton morphology	128637	TBC1D20	ORPHA:2510
HP:0011821	Abnormal facial skeleton morphology	71	ACTG1	ORPHA:2995
HP:0011821	Abnormal facial skeleton morphology	60	ACTB	ORPHA:2995
HP:0011821	Abnormal facial skeleton morphology	10210	TOPORS	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	9851	KIAA0753	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	5147	PDE6D	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	317662	FAM149B1	ORPHA:2754
HP:0011821	Abnormal facial skeleton morphology	55553	SOX6	OMIM:618971
HP:0011821	Abnormal facial skeleton morphology	1806	DPYD	ORPHA:293948
HP:0011821	Abnormal facial skeleton morphology	4281	MID1	ORPHA:2745
HP:0011821	Abnormal facial skeleton morphology	8398	PLA2G6	OMIM:256600
HP:0011821	Abnormal facial skeleton morphology	246329	STAC3	OMIM:255995
HP:0011821	Abnormal facial skeleton morphology	246329	STAC3	ORPHA:168572
HP:0011821	Abnormal facial skeleton morphology	1278	COL1A2	ORPHA:1899
HP:0011821	Abnormal facial skeleton morphology	1278	COL1A2	OMIM:259420
HP:0011821	Abnormal facial skeleton morphology	1277	COL1A1	ORPHA:1899
HP:0011821	Abnormal facial skeleton morphology	1277	COL1A1	OMIM:259420
HP:0011821	Abnormal facial skeleton morphology	3762	KCNJ5	ORPHA:37553
HP:0011821	Abnormal facial skeleton morphology	2137	EXTL3	ORPHA:508533
HP:0011821	Abnormal facial skeleton morphology	7528	YY1	ORPHA:506358
HP:0011821	Abnormal facial skeleton morphology	7528	YY1	OMIM:617557
HP:0011821	Abnormal facial skeleton morphology	23141	ANKLE2	OMIM:616681
HP:0011821	Abnormal facial skeleton morphology	8294	H4C9	OMIM:619951
HP:0011821	Abnormal facial skeleton morphology	83932	SPRTN	OMIM:616200
HP:0011821	Abnormal facial skeleton morphology	8425	LTBP4	OMIM:613177
HP:0011821	Abnormal facial skeleton morphology	5830	PEX5	OMIM:214110
HP:0011821	Abnormal facial skeleton morphology	5830	PEX5	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	64220	STRA6	OMIM:601186
HP:0011821	Abnormal facial skeleton morphology	9786	KIAA0586	ORPHA:397715
HP:0011821	Abnormal facial skeleton morphology	3020	H3-3A	OMIM:619720
HP:0011821	Abnormal facial skeleton morphology	1723	DHODH	OMIM:263750
HP:0011821	Abnormal facial skeleton morphology	1723	DHODH	ORPHA:246
HP:0011821	Abnormal facial skeleton morphology	72	ACTG2	ORPHA:2604
HP:0011821	Abnormal facial skeleton morphology	2201	FBN2	OMIM:121050
HP:0011821	Abnormal facial skeleton morphology	129563	DIS3L2	ORPHA:2849
HP:0011821	Abnormal facial skeleton morphology	129563	DIS3L2	OMIM:267000
HP:0011821	Abnormal facial skeleton morphology	4286	MITF	OMIM:617306
HP:0011821	Abnormal facial skeleton morphology	5189	PEX1	OMIM:214100
HP:0011821	Abnormal facial skeleton morphology	5189	PEX1	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	716	C1S	ORPHA:75392
HP:0011821	Abnormal facial skeleton morphology	715	C1R	ORPHA:75392
HP:0011821	Abnormal facial skeleton morphology	10381	TUBB3	ORPHA:300570
HP:0011821	Abnormal facial skeleton morphology	4920	ROR2	ORPHA:1507
HP:0011821	Abnormal facial skeleton morphology	4920	ROR2	OMIM:268310
HP:0011821	Abnormal facial skeleton morphology	2626	GATA4	ORPHA:251071
HP:0011821	Abnormal facial skeleton morphology	7020	TFAP2A	OMIM:113620
HP:0011821	Abnormal facial skeleton morphology	6872	TAF1	ORPHA:480907
HP:0011821	Abnormal facial skeleton morphology	652	BMP4	OMIM:607932
HP:0011821	Abnormal facial skeleton morphology	54872	PIGG	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	7469	NELFA	ORPHA:280
HP:0011821	Abnormal facial skeleton morphology	22872	SEC31A	OMIM:618651
HP:0011821	Abnormal facial skeleton morphology	5424	POLD1	OMIM:615381
HP:0011821	Abnormal facial skeleton morphology	57498	KIDINS220	OMIM:619501
HP:0011821	Abnormal facial skeleton morphology	4174	MCM5	OMIM:617564
HP:0011821	Abnormal facial skeleton morphology	57178	ZMIZ1	OMIM:618659
HP:0011821	Abnormal facial skeleton morphology	2783	GNB2	OMIM:619503
HP:0011821	Abnormal facial skeleton morphology	8241	RBM10	OMIM:311900
HP:0011821	Abnormal facial skeleton morphology	8241	RBM10	ORPHA:2886
HP:0011821	Abnormal facial skeleton morphology	57167	SALL4	ORPHA:233
HP:0011821	Abnormal facial skeleton morphology	1123	CHN1	ORPHA:233
HP:0011821	Abnormal facial skeleton morphology	54888	NSUN2	ORPHA:235
HP:0011821	Abnormal facial skeleton morphology	1182	CLCN3	OMIM:619512
HP:0011821	Abnormal facial skeleton morphology	63895	PIEZO2	OMIM:114300
HP:0011821	Abnormal facial skeleton morphology	63895	PIEZO2	OMIM:248700
HP:0011821	Abnormal facial skeleton morphology	63895	PIEZO2	ORPHA:2461
HP:0011821	Abnormal facial skeleton morphology	54914	FOCAD	OMIM:619991
HP:0011821	Abnormal facial skeleton morphology	55699	IARS2	OMIM:616007
HP:0011821	Abnormal facial skeleton morphology	286	ANK1	ORPHA:251066
HP:0011821	Abnormal facial skeleton morphology	145258	GSC	OMIM:602471
HP:0011821	Abnormal facial skeleton morphology	2248	FGF3	OMIM:610706
HP:0011821	Abnormal facial skeleton morphology	2248	FGF3	ORPHA:90024
HP:0011821	Abnormal facial skeleton morphology	79796	ALG9	ORPHA:79328
HP:0011821	Abnormal facial skeleton morphology	79796	ALG9	OMIM:263210
HP:0011821	Abnormal facial skeleton morphology	54928	BPNT2	OMIM:614078
HP:0011821	Abnormal facial skeleton morphology	53335	BCL11A	OMIM:617101
HP:0011821	Abnormal facial skeleton morphology	9928	KIF14	OMIM:616258
HP:0011821	Abnormal facial skeleton morphology	2542	SLC37A4	OMIM:619525
HP:0011821	Abnormal facial skeleton morphology	286053	NSMCE2	ORPHA:436182
HP:0011821	Abnormal facial skeleton morphology	57492	ARID1B	ORPHA:251056
HP:0011821	Abnormal facial skeleton morphology	2556	GABRA3	OMIM:301091
HP:0011821	Abnormal facial skeleton morphology	4626	MYH8	OMIM:158300
HP:0011821	Abnormal facial skeleton morphology	57724	EPG5	OMIM:242840
HP:0011821	Abnormal facial skeleton morphology	23556	PIGN	OMIM:614080
HP:0011821	Abnormal facial skeleton morphology	23556	PIGN	ORPHA:2059
HP:0011821	Abnormal facial skeleton morphology	23162	MAPK8IP3	OMIM:618443
HP:0011821	Abnormal facial skeleton morphology	4123	MAN2C1	OMIM:619775
HP:0011821	Abnormal facial skeleton morphology	8218	CLTCL1	ORPHA:453510
HP:0011821	Abnormal facial skeleton morphology	23219	FBXO28	OMIM:619777
HP:0011821	Abnormal facial skeleton morphology	9496	TBX4	OMIM:147891
HP:0011821	Abnormal facial skeleton morphology	79087	ALG12	ORPHA:79324
HP:0011821	Abnormal facial skeleton morphology	8295	TRRAP	OMIM:618454
HP:0011821	Abnormal facial skeleton morphology	81570	CLPB	OMIM:616271
HP:0011821	Abnormal facial skeleton morphology	3763	KCNJ6	OMIM:614098
HP:0011821	Abnormal facial skeleton morphology	3763	KCNJ6	ORPHA:435628
HP:0011821	Abnormal facial skeleton morphology	29968	PSAT1	OMIM:616038
HP:0011821	Abnormal facial skeleton morphology	29968	PSAT1	ORPHA:284417
HP:0011821	Abnormal facial skeleton morphology	58497	PRUNE1	ORPHA:544469
HP:0011821	Abnormal facial skeleton morphology	5062	PAK2	OMIM:618458
HP:0011821	Abnormal facial skeleton morphology	23013	SPEN	OMIM:619312
HP:0011821	Abnormal facial skeleton morphology	54892	NCAPG2	OMIM:618460
HP:0011821	Abnormal facial skeleton morphology	8506	CNTNAP1	OMIM:616286
HP:0011821	Abnormal facial skeleton morphology	8506	CNTNAP1	OMIM:618186
HP:0011821	Abnormal facial skeleton morphology	221496	LEMD2	OMIM:619322
HP:0011821	Abnormal facial skeleton morphology	29998	BICRA	OMIM:619325
HP:0011821	Abnormal facial skeleton morphology	23030	KDM4B	OMIM:619320
HP:0011821	Abnormal facial skeleton morphology	1363	CPE	OMIM:619326
HP:0011821	Abnormal facial skeleton morphology	6904	TBCD	ORPHA:496641
HP:0011821	Abnormal facial skeleton morphology	6904	TBCD	OMIM:617193
HP:0011821	Abnormal facial skeleton morphology	170302	ARX	ORPHA:452
HP:0011821	Abnormal facial skeleton morphology	170302	ARX	OMIM:300215
HP:0011821	Abnormal facial skeleton morphology	23221	RHOBTB2	OMIM:618004
HP:0011821	Abnormal facial skeleton morphology	8260	NAA10	OMIM:300855
HP:0011821	Abnormal facial skeleton morphology	10082	GPC6	OMIM:258315
HP:0011821	Abnormal facial skeleton morphology	10082	GPC6	ORPHA:93329
HP:0011821	Abnormal facial skeleton morphology	1147	CHUK	OMIM:619339
HP:0011821	Abnormal facial skeleton morphology	1280	COL2A1	ORPHA:94068
HP:0011821	Abnormal facial skeleton morphology	1280	COL2A1	ORPHA:166100
HP:0011821	Abnormal facial skeleton morphology	1280	COL2A1	OMIM:108300
HP:0011821	Abnormal facial skeleton morphology	1280	COL2A1	ORPHA:93316
HP:0011821	Abnormal facial skeleton morphology	1280	COL2A1	ORPHA:93346
HP:0011821	Abnormal facial skeleton morphology	9719	ADAMTSL2	ORPHA:1901
HP:0011821	Abnormal facial skeleton morphology	9509	ADAMTS2	ORPHA:1901
HP:0011821	Abnormal facial skeleton morphology	9509	ADAMTS2	OMIM:225410
HP:0011821	Abnormal facial skeleton morphology	3481	IGF2	OMIM:180860
HP:0011821	Abnormal facial skeleton morphology	3481	IGF2	ORPHA:397590
HP:0011821	Abnormal facial skeleton morphology	8091	HMGA2	ORPHA:94063
HP:0011821	Abnormal facial skeleton morphology	8091	HMGA2	ORPHA:397590
HP:0011821	Abnormal facial skeleton morphology	23592	LEMD3	ORPHA:94063
HP:0011821	Abnormal facial skeleton morphology	26276	VPS33B	OMIM:208085
HP:0011821	Abnormal facial skeleton morphology	372	ARCN1	OMIM:617164
HP:0011821	Abnormal facial skeleton morphology	3977	LIFR	OMIM:601559
HP:0011821	Abnormal facial skeleton morphology	5277	PIGA	OMIM:300868
HP:0011821	Abnormal facial skeleton morphology	51305	KCNK9	ORPHA:166108
HP:0011821	Abnormal facial skeleton morphology	5144	PDE4D	ORPHA:439822
HP:0011821	Abnormal facial skeleton morphology	23384	SPECC1L	OMIM:145420
HP:0011821	Abnormal facial skeleton morphology	9244	CRLF1	OMIM:272430
HP:0011821	Abnormal facial skeleton morphology	9244	CRLF1	ORPHA:1545
HP:0011821	Abnormal facial skeleton morphology	9791	PTDSS1	OMIM:151050
HP:0011821	Abnormal facial skeleton morphology	80347	COASY	OMIM:618266
HP:0011821	Abnormal facial skeleton morphology	5281	PIGF	OMIM:619356
HP:0011821	Abnormal facial skeleton morphology	340419	RSPO2	OMIM:618021
HP:0011821	Abnormal facial skeleton morphology	340419	RSPO2	ORPHA:3301
HP:0011821	Abnormal facial skeleton morphology	51604	PIGT	ORPHA:369837
HP:0011821	Abnormal facial skeleton morphology	145173	B3GLCT	OMIM:261540
HP:0011821	Abnormal facial skeleton morphology	145173	B3GLCT	ORPHA:709
HP:0011821	Abnormal facial skeleton morphology	5530	PPP3CA	OMIM:618265
HP:0011821	Abnormal facial skeleton morphology	5530	PPP3CA	OMIM:617711
HP:0011821	Abnormal facial skeleton morphology	2132	EXT2	ORPHA:52022
HP:0011821	Abnormal facial skeleton morphology	60529	ALX4	ORPHA:52022
HP:0011821	Abnormal facial skeleton morphology	51317	PHF21A	ORPHA:52022
HP:0011821	Abnormal facial skeleton morphology	23405	DICER1	OMIM:618272
HP:0011821	Abnormal facial skeleton morphology	285590	SH3PXD2B	OMIM:249420
HP:0011821	Abnormal facial skeleton morphology	51715	RAB23	OMIM:201000
HP:0011821	Abnormal facial skeleton morphology	10651	MTX2	OMIM:619127
HP:0011821	Abnormal facial skeleton morphology	29123	ANKRD11	ORPHA:261250
HP:0011821	Abnormal facial skeleton morphology	10220	GDF11	OMIM:619122
HP:0011821	Abnormal facial skeleton morphology	90416	CCDC32	OMIM:619123
HP:0011821	Abnormal facial skeleton morphology	5080	PAX6	ORPHA:893
HP:0011821	Abnormal facial skeleton morphology	627	BDNF	ORPHA:893
HP:0011821	Abnormal facial skeleton morphology	7490	WT1	ORPHA:893
HP:0011821	Abnormal facial skeleton morphology	57020	VPS35L	OMIM:619135
HP:0011821	Abnormal facial skeleton morphology	1984	EIF5A	OMIM:619376
HP:0011821	Abnormal facial skeleton morphology	5236	PGM1	OMIM:614921
HP:0011821	Abnormal facial skeleton morphology	3295	HSD17B4	OMIM:261515
HP:0011821	Abnormal facial skeleton morphology	22800	RRAS2	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	867	CBL	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	6016	RIT1	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	6237	RRAS	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	5894	RAF1	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	22808	MRAS	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	200734	SPRED2	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	4893	NRAS	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	6654	SOS1	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	6655	SOS2	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	5781	PTPN11	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	5781	PTPN11	OMIM:163950
HP:0011821	Abnormal facial skeleton morphology	5922	RASA2	ORPHA:648
HP:0011821	Abnormal facial skeleton morphology	23299	BICD2	OMIM:618291
HP:0011821	Abnormal facial skeleton morphology	6913	TBX15	OMIM:260660
HP:0011821	Abnormal facial skeleton morphology	871	SERPINH1	OMIM:613848
HP:0011821	Abnormal facial skeleton morphology	3480	IGF1R	OMIM:270450
HP:0011821	Abnormal facial skeleton morphology	2690	GHR	ORPHA:633
HP:0011821	Abnormal facial skeleton morphology	121340	SP7	OMIM:613849
HP:0011821	Abnormal facial skeleton morphology	83483	PLVAP	OMIM:618183
HP:0011821	Abnormal facial skeleton morphology	10128	LRPPRC	OMIM:220111
HP:0011821	Abnormal facial skeleton morphology	199857	ALG14	OMIM:619036
HP:0011821	Abnormal facial skeleton morphology	9871	SEC24D	ORPHA:2050
HP:0011821	Abnormal facial skeleton morphology	775	CACNA1C	OMIM:620029
HP:0011821	Abnormal facial skeleton morphology	55624	POMGNT1	OMIM:253280
HP:0011821	Abnormal facial skeleton morphology	8854	ALDH1A2	OMIM:620025
HP:0011821	Abnormal facial skeleton morphology	10274	STAG1	ORPHA:502434
HP:0011821	Abnormal facial skeleton morphology	10992	SF3B2	OMIM:164210
HP:0011821	Abnormal facial skeleton morphology	2629	GBA1	OMIM:608013
HP:0011821	Abnormal facial skeleton morphology	23118	TAB2	ORPHA:228410
HP:0011821	Abnormal facial skeleton morphology	8443	GNPAT	OMIM:222765
HP:0011821	Abnormal facial skeleton morphology	58	ACTA1	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	58	ACTA1	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	58	ACTA1	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	7169	TPM2	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	7169	TPM2	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	7169	TPM2	ORPHA:1147
HP:0011821	Abnormal facial skeleton morphology	7169	TPM2	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	4703	NEB	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	4703	NEB	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	10324	KLHL41	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	10324	KLHL41	OMIM:615731
HP:0011821	Abnormal facial skeleton morphology	10324	KLHL41	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	56203	LMOD3	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	1073	CFL2	ORPHA:171436
HP:0011821	Abnormal facial skeleton morphology	22858	CILK1	OMIM:612651
HP:0011821	Abnormal facial skeleton morphology	3899	AFF3	OMIM:619297
HP:0011821	Abnormal facial skeleton morphology	3483	IGFALS	ORPHA:140941
HP:0011821	Abnormal facial skeleton morphology	283989	TSEN54	ORPHA:166063
HP:0011821	Abnormal facial skeleton morphology	57190	SELENON	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	4633	MYL2	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	3679	ITGA7	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	9200	HACD1	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	7170	TPM3	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	7170	TPM3	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	51776	MAP3K20	ORPHA:2020
HP:0011821	Abnormal facial skeleton morphology	3070	HELLS	ORPHA:2268
HP:0011821	Abnormal facial skeleton morphology	83879	CDCA7	ORPHA:2268
HP:0011821	Abnormal facial skeleton morphology	9841	ZBTB24	ORPHA:2268
HP:0011821	Abnormal facial skeleton morphology	26005	C2CD3	OMIM:615948
HP:0011821	Abnormal facial skeleton morphology	3265	HRAS	OMIM:218040
HP:0011821	Abnormal facial skeleton morphology	5826	ABCD4	OMIM:614857
HP:0011821	Abnormal facial skeleton morphology	26227	PHGDH	OMIM:256520
HP:0011821	Abnormal facial skeleton morphology	2615	LRRC32	OMIM:619074
HP:0011821	Abnormal facial skeleton morphology	1857	DVL3	ORPHA:3107
HP:0011821	Abnormal facial skeleton morphology	1857	DVL3	OMIM:616894
HP:0011821	Abnormal facial skeleton morphology	5828	PEX2	OMIM:614866
HP:0011821	Abnormal facial skeleton morphology	5828	PEX2	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	10290	SPEG	OMIM:615959
HP:0011821	Abnormal facial skeleton morphology	9289	ADGRG1	ORPHA:98889
HP:0011821	Abnormal facial skeleton morphology	27286	SRPX2	ORPHA:98889
HP:0011821	Abnormal facial skeleton morphology	157570	ESCO2	ORPHA:3103
HP:0011821	Abnormal facial skeleton morphology	157570	ESCO2	OMIM:268300
HP:0011821	Abnormal facial skeleton morphology	55027	HEATR3	OMIM:620072
HP:0011821	Abnormal facial skeleton morphology	10236	HNRNPR	OMIM:620073
HP:0011821	Abnormal facial skeleton morphology	51611	DPH5	OMIM:620070
HP:0011821	Abnormal facial skeleton morphology	5700	PSMC1	OMIM:620071
HP:0011821	Abnormal facial skeleton morphology	728294	D2HGDH	OMIM:600721
HP:0011821	Abnormal facial skeleton morphology	2138	EYA1	ORPHA:52429
HP:0011821	Abnormal facial skeleton morphology	6495	SIX1	ORPHA:52429
HP:0011821	Abnormal facial skeleton morphology	6628	SNRPB	ORPHA:1393
HP:0011821	Abnormal facial skeleton morphology	6628	SNRPB	OMIM:117650
HP:0011821	Abnormal facial skeleton morphology	5159	PDGFRB	OMIM:601812
HP:0011821	Abnormal facial skeleton morphology	5594	MAPK1	OMIM:619087
HP:0011821	Abnormal facial skeleton morphology	1028	CDKN1C	ORPHA:397590
HP:0011821	Abnormal facial skeleton morphology	5324	PLAG1	ORPHA:397590
HP:0011821	Abnormal facial skeleton morphology	2065	ERBB3	OMIM:607598
HP:0011821	Abnormal facial skeleton morphology	23065	EMC1	ORPHA:480898
HP:0011821	Abnormal facial skeleton morphology	23065	EMC1	OMIM:616875
HP:0011821	Abnormal facial skeleton morphology	7140	TNNT3	ORPHA:1147
HP:0011821	Abnormal facial skeleton morphology	8504	PEX3	OMIM:614882
HP:0011821	Abnormal facial skeleton morphology	8504	PEX3	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	84665	MYPN	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	390594	KBTBD13	ORPHA:171439
HP:0011821	Abnormal facial skeleton morphology	50628	GEMIN4	OMIM:617913
HP:0011821	Abnormal facial skeleton morphology	84570	COL25A1	ORPHA:1143
HP:0011821	Abnormal facial skeleton morphology	57222	ERGIC1	ORPHA:1143
HP:0011821	Abnormal facial skeleton morphology	5195	PEX14	OMIM:614887
HP:0011821	Abnormal facial skeleton morphology	5195	PEX14	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	4313	MMP2	OMIM:259600
HP:0011821	Abnormal facial skeleton morphology	9775	EIF4A3	OMIM:268305
HP:0011821	Abnormal facial skeleton morphology	2702	GJA5	OMIM:612474
HP:0011821	Abnormal facial skeleton morphology	2703	GJA8	OMIM:612474
HP:0011821	Abnormal facial skeleton morphology	27152	INTU	OMIM:617925
HP:0011821	Abnormal facial skeleton morphology	1297	COL9A1	ORPHA:250984
HP:0011821	Abnormal facial skeleton morphology	1298	COL9A2	ORPHA:250984
HP:0011821	Abnormal facial skeleton morphology	1299	COL9A3	ORPHA:250984
HP:0011821	Abnormal facial skeleton morphology	84695	LOXL3	ORPHA:250984
HP:0011821	Abnormal facial skeleton morphology	1144	CHRND	OMIM:253290
HP:0011821	Abnormal facial skeleton morphology	6497	SKI	ORPHA:2462
HP:0011821	Abnormal facial skeleton morphology	6497	SKI	OMIM:182212
HP:0011821	Abnormal facial skeleton morphology	55670	PEX26	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	5824	PEX19	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	8799	PEX11B	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	9409	PEX16	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	5190	PEX6	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	5193	PEX12	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	5194	PEX13	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	5192	PEX10	ORPHA:912
HP:0011821	Abnormal facial skeleton morphology	4038	LRP4	OMIM:212780
HP:0011821	Abnormal facial skeleton morphology	9780	PIEZO1	OMIM:616843
HP:0011821	Abnormal facial skeleton morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011821	Abnormal facial skeleton morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011821	Abnormal facial skeleton morphology	85358	SHANK3	OMIM:606232
HP:0011821	Abnormal facial skeleton morphology	91179	SCARF2	OMIM:600920
HP:0011821	Abnormal facial skeleton morphology	113179	ADAT3	ORPHA:363528
HP:0011821	Abnormal facial skeleton morphology	10525	HYOU1	OMIM:233600
HP:0011821	Abnormal facial skeleton morphology	55784	MCTP2	ORPHA:1596
HP:0011821	Abnormal facial skeleton morphology	30008	EFEMP2	OMIM:614437
HP:0011821	Abnormal facial skeleton morphology	91869	RFT1	OMIM:612015
HP:0011821	Abnormal facial skeleton morphology	5915	RARB	OMIM:615524
HP:0011821	Abnormal facial skeleton morphology	5053	PAH	ORPHA:2209
HP:0011821	Abnormal facial skeleton morphology	4297	KMT2A	OMIM:605130
HP:0011821	Abnormal facial skeleton morphology	101929726	MYMX	ORPHA:1358
HP:0011821	Abnormal facial skeleton morphology	101929726	MYMX	OMIM:619941
HP:0011821	Abnormal facial skeleton morphology	4204	MECP2	OMIM:300055
HP:0011821	Abnormal facial skeleton morphology	10265	IRX5	OMIM:611174
HP:0011821	Abnormal facial skeleton morphology	5925	RB1	ORPHA:1587
HP:0011821	Abnormal facial skeleton morphology	55603	TENT5A	OMIM:617952
HP:0011821	Abnormal facial skeleton morphology	1063	CENPF	OMIM:243605
HP:0011821	Abnormal facial skeleton morphology	64093	SMOC1	ORPHA:1106
HP:0011821	Abnormal facial skeleton morphology	91647	ATPAF2	OMIM:604273
HP:0011821	Abnormal facial skeleton morphology	5718	PSMD12	ORPHA:529962
HP:0011821	Abnormal facial skeleton morphology	5718	PSMD12	OMIM:617516
HP:0011821	Abnormal facial skeleton morphology	2186	BPTF	ORPHA:529962
HP:0011821	Abnormal facial skeleton morphology	2186	BPTF	OMIM:617755
HP:0011821	Abnormal facial skeleton morphology	84342	COG8	OMIM:611182
HP:0011821	Abnormal facial skeleton morphology	57572	DOCK6	OMIM:614219
HP:0011821	Abnormal facial skeleton morphology	29980	DONSON	OMIM:251230
HP:0011821	Abnormal facial skeleton morphology	23233	EXOC6B	ORPHA:93359
HP:0011821	Abnormal facial skeleton morphology	29957	SLC25A24	OMIM:612289
HP:0011821	Abnormal facial skeleton morphology	4659	PPP1R12A	OMIM:618820
HP:0011821	Abnormal facial skeleton morphology	91461	PKDCC	OMIM:618821
HP:0011821	Abnormal facial skeleton morphology	285175	UNC80	ORPHA:371364
HP:0011821	Abnormal facial skeleton morphology	8405	SPOP	OMIM:618829
HP:0011821	Abnormal facial skeleton morphology	2260	FGFR1	ORPHA:2645
HP:0011821	Abnormal facial skeleton morphology	202018	TAPT1	OMIM:616897
HP:0011821	Abnormal facial skeleton morphology	7291	TWIST1	OMIM:617746
HP:0011821	Abnormal facial skeleton morphology	2767	GNA11	ORPHA:1556
HP:0011821	Abnormal facial skeleton morphology	151188	ARL6IP6	ORPHA:1556
HP:0011821	Abnormal facial skeleton morphology	440	ASNS	OMIM:615574
HP:0011821	Abnormal facial skeleton morphology	55023	PHIP	OMIM:617991
HP:0011821	Abnormal facial skeleton morphology	3664	IRF6	ORPHA:1300
HP:0011821	Abnormal facial skeleton morphology	7476	WNT7A	ORPHA:2879
HP:0011821	Abnormal facial skeleton morphology	4848	CNOT2	OMIM:618608
HP:0011821	Abnormal facial skeleton morphology	23529	CLCF1	ORPHA:1545
HP:0011821	Abnormal facial skeleton morphology	9469	CHST3	OMIM:245600
HP:0011821	Abnormal facial skeleton morphology	26229	B3GAT3	OMIM:245600
HP:0011821	Abnormal facial skeleton morphology	221927	BRAT1	OMIM:614498
HP:0011821	Abnormal facial skeleton morphology	6736	SRY	ORPHA:1772
HP:0011821	Abnormal facial skeleton morphology	5290	PIK3CA	OMIM:615108
HP:0011821	Abnormal facial skeleton morphology	207	AKT1	OMIM:615109
HP:0011821	Abnormal facial skeleton morphology	25	ABL1	OMIM:617602
HP:0011821	Abnormal facial skeleton morphology	1289	COL5A1	OMIM:130000
HP:0011821	Abnormal facial skeleton morphology	54808	DYM	OMIM:223800
HP:0011821	Abnormal facial skeleton morphology	54808	DYM	OMIM:607326
HP:0011821	Abnormal facial skeleton morphology	153241	CEP120	OMIM:616300
HP:0011821	Abnormal facial skeleton morphology	4591	TRIM37	OMIM:253250
HP:0011821	Abnormal facial skeleton morphology	257	ALX3	OMIM:136760
HP:0011821	Abnormal facial skeleton morphology	257	ALX3	ORPHA:391474
HP:0011821	Abnormal facial skeleton morphology	175	AGA	OMIM:208400
HP:0011821	Abnormal facial skeleton morphology	6424	SFRP4	OMIM:265900
HP:0011821	Abnormal facial skeleton morphology	3166	HMX1	OMIM:612109
HP:0011821	Abnormal facial skeleton morphology	4094	MAF	OMIM:601088
HP:0011821	Abnormal facial skeleton morphology	6197	RPS6KA3	ORPHA:192
HP:0011821	Abnormal facial skeleton morphology	2778	GNAS	OMIM:174800
HP:0011821	Abnormal facial skeleton morphology	8792	TNFRSF11A	ORPHA:1782
HP:0011821	Abnormal facial skeleton morphology	6916	TBXAS1	ORPHA:1802
HP:0011821	Abnormal facial skeleton morphology	7507	XPA	ORPHA:910
HP:0011821	Abnormal facial skeleton morphology	7508	XPC	ORPHA:910
HP:0011821	Abnormal facial skeleton morphology	1643	DDB2	ORPHA:910
HP:0011821	Abnormal facial skeleton morphology	4796	TONSL	ORPHA:93357
HP:0011821	Abnormal facial skeleton morphology	56172	ANKH	OMIM:123000
HP:0011821	Abnormal facial skeleton morphology	8905	AP1S2	OMIM:304340
HP:0011821	Abnormal facial skeleton morphology	9365	KL	OMIM:617994
HP:0011821	Abnormal facial skeleton morphology	63901	FAM111A	ORPHA:93325
HP:0011821	Abnormal facial skeleton morphology	10736	SIX2	ORPHA:488437
HP:0011821	Abnormal facial skeleton morphology	2517	FUCA1	OMIM:230000
HP:0011821	Abnormal facial skeleton morphology	1436	CSF1R	OMIM:618476
HP:0011821	Abnormal facial skeleton morphology	4524	MTHFR	ORPHA:563612
HP:0011821	Abnormal facial skeleton morphology	57216	VANGL2	ORPHA:563612
HP:0011821	Abnormal facial skeleton morphology	8092	ALX1	ORPHA:306542
HP:0011821	Abnormal facial skeleton morphology	3759	KCNJ2	OMIM:170390
HP:0011821	Abnormal facial skeleton morphology	9526	MPDU1	ORPHA:79323
HP:0011821	Abnormal facial skeleton morphology	10312	TCIRG1	ORPHA:210110
HP:0011821	Abnormal facial skeleton morphology	1186	CLCN7	ORPHA:210110
HP:0011821	Abnormal facial skeleton morphology	9842	PLEKHM1	ORPHA:210110
HP:0011821	Abnormal facial skeleton morphology	23516	SLC39A14	OMIM:144755
HP:0011821	Abnormal facial skeleton morphology	23347	SMCHD1	OMIM:603457
HP:0011821	Abnormal facial skeleton morphology	50964	SOST	OMIM:269500
HP:0011821	Abnormal facial skeleton morphology	203859	ANO5	ORPHA:53697
HP:0011821	Abnormal facial skeleton morphology	8600	TNFSF11	OMIM:259710
HP:0011821	Abnormal facial skeleton morphology	2131	EXT1	ORPHA:502
HP:0011821	Abnormal facial skeleton morphology	5015	OTX2	ORPHA:990
HP:0011821	Abnormal facial skeleton morphology	3043	HBB	ORPHA:231226
HP:0011821	Abnormal facial skeleton morphology	3043	HBB	ORPHA:231214
HP:0011821	Abnormal facial skeleton morphology	5727	PTCH1	OMIM:610828
HP:0011821	Abnormal facial skeleton morphology	2736	GLI2	OMIM:610829
HP:0011821	Abnormal facial skeleton morphology	415	ARSL	ORPHA:79345
HP:0011821	Abnormal facial skeleton morphology	1896	EDA	OMIM:313500
HP:0011821	Abnormal facial skeleton morphology	81031	SLC2A10	ORPHA:3342
HP:0011821	Abnormal facial skeleton morphology	23019	CNOT1	ORPHA:556955
HP:0011821	Abnormal facial skeleton morphology	23019	CNOT1	OMIM:618500
HP:0011821	Abnormal facial skeleton morphology	157680	VPS13B	ORPHA:193
HP:0011821	Abnormal facial skeleton morphology	51594	NBAS	OMIM:614800
HP:0011821	Abnormal facial skeleton morphology	7461	CLIP2	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	84277	DNAJC30	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	8468	FKBP6	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	5982	RFC2	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	2969	GTF2I	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	3984	LIMK1	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	9569	GTF2IRD1	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	155382	VPS37D	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	155368	METTL27	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	114049	BUD23	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	7458	EIF4H	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	84163	GTF2IRD2	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	9275	BCL7B	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	26608	TBL2	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	135886	TMEM270	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	51085	MLXIPL	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	9031	BAZ1B	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	2006	ELN	ORPHA:904
HP:0011821	Abnormal facial skeleton morphology	5604	MAP2K1	ORPHA:1340
HP:0011821	Abnormal facial skeleton morphology	5605	MAP2K2	ORPHA:1340
HP:0011821	Abnormal facial skeleton morphology	3845	KRAS	ORPHA:1340
HP:0011821	Abnormal facial skeleton morphology	673	BRAF	ORPHA:1340
HP:0011821	Abnormal facial skeleton morphology	8481	OFD1	ORPHA:2750
HP:0011821	Abnormal facial skeleton morphology	5184	PEPD	ORPHA:742
HP:0011821	Abnormal facial skeleton morphology	51082	POLR1D	OMIM:613717
HP:0011821	Abnormal facial skeleton morphology	51082	POLR1D	ORPHA:861
HP:0011821	Abnormal facial skeleton morphology	10262	SF3B4	ORPHA:245
HP:0011821	Abnormal facial skeleton morphology	84172	POLR1B	ORPHA:861
HP:0011821	Abnormal facial skeleton morphology	9533	POLR1C	ORPHA:861
HP:0011821	Abnormal facial skeleton morphology	9533	POLR1C	OMIM:248390
HP:0011821	Abnormal facial skeleton morphology	6949	TCOF1	ORPHA:861
HP:0011821	Abnormal facial skeleton morphology	1301	COL11A1	ORPHA:560
HP:0011821	Abnormal facial skeleton morphology	2263	FGFR2	ORPHA:1555
HP:0011821	Abnormal facial skeleton morphology	5818	NECTIN1	ORPHA:3253
HP:0011821	Abnormal facial skeleton morphology	4853	NOTCH2	ORPHA:955
HP:0011821	Abnormal facial skeleton morphology	55636	CHD7	ORPHA:138
HP:0011821	Abnormal facial skeleton morphology	9723	SEMA3E	ORPHA:138
HP:0011821	Abnormal facial skeleton morphology	6775	STAT4	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	3560	IL2RB	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	79722	ANKRD55	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	919	CD247	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	3559	IL2RA	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	5771	PTPN2	ORPHA:85408
HP:0011821	Abnormal facial skeleton morphology	3908	LAMA2	ORPHA:258
HP:0011821	Abnormal facial skeleton morphology	6496	SIX3	OMIM:157170
HP:0011821	Abnormal facial skeleton morphology	78989	COLEC11	OMIM:265050
HP:0011821	Abnormal facial skeleton morphology	7840	ALMS1	ORPHA:64
HP:0011821	Abnormal facial skeleton morphology	30011	SH3KBP1	OMIM:300310
HP:0011821	Abnormal facial skeleton morphology	4791	NFKB2	ORPHA:293978
HP:0011821	Abnormal facial skeleton morphology	4791	NFKB2	OMIM:615577
HP:0011821	Abnormal facial skeleton morphology	930	CD19	OMIM:613493
HP:0011821	Abnormal facial skeleton morphology	930	CD19	OMIM:240500
HP:0011821	Abnormal facial skeleton morphology	115650	TNFRSF13C	OMIM:613494
HP:0011821	Abnormal facial skeleton morphology	115650	TNFRSF13C	OMIM:240500
HP:0011821	Abnormal facial skeleton morphology	5580	PRKCD	OMIM:615559
HP:0011821	Abnormal facial skeleton morphology	5880	RAC2	OMIM:618986
HP:0011821	Abnormal facial skeleton morphology	987	LRBA	OMIM:614700
HP:0011821	Abnormal facial skeleton morphology	3426	CFI	OMIM:610984
HP:0011821	Abnormal facial skeleton morphology	54499	TMCO1	OMIM:213980
HP:0011821	Abnormal facial skeleton morphology	9094	UNC119	OMIM:615518
HP:0011821	Abnormal facial skeleton morphology	79650	USB1	OMIM:604173
HP:0011821	Abnormal facial skeleton morphology	5293	PIK3CD	OMIM:619281
HP:0011821	Abnormal facial skeleton morphology	6813	STXBP2	OMIM:613101
HP:0011821	Abnormal facial skeleton morphology	51816	ADA2	OMIM:615688
HP:0011821	Abnormal facial skeleton morphology	4790	NFKB1	OMIM:616576
HP:0011821	Abnormal facial skeleton morphology	50615	IL21R	OMIM:615207
HP:0011821	Abnormal facial skeleton morphology	85452	CFAP74	OMIM:620197
HP:0011821	Abnormal facial skeleton morphology	8382	NME5	OMIM:620032
HP:0011821	Abnormal facial skeleton morphology	29851	ICOS	OMIM:607594
HP:0011821	Abnormal facial skeleton morphology	29851	ICOS	OMIM:240500
HP:0011821	Abnormal facial skeleton morphology	84905	ZNF341	OMIM:618282
HP:0011821	Abnormal facial skeleton morphology	54	ACP5	OMIM:607944
HP:0011821	Abnormal facial skeleton morphology	23495	TNFRSF13B	OMIM:240500
HP:0011821	Abnormal facial skeleton morphology	1380	CR2	OMIM:240500
HP:0011821	Abnormal facial skeleton morphology	84061	MAGT1	OMIM:300853
HP:0011821	Abnormal facial skeleton morphology	1290	COL5A2	OMIM:130010
HP:0011821	Abnormal facial skeleton morphology	10625	IVNS1ABP	OMIM:618969
HP:0011821	Abnormal facial skeleton morphology	4194	MDM4	OMIM:618849
HP:0011821	Abnormal facial skeleton morphology	3551	IKBKB	OMIM:618204
HP:0011821	Abnormal facial skeleton morphology	23765	IL17RA	OMIM:613953
HP:0011821	Abnormal facial skeleton morphology	6899	TBX1	OMIM:188400
HP:0011821	Abnormal facial skeleton morphology	81704	DOCK8	OMIM:243700
HP:0011821	Abnormal facial skeleton morphology	81704	DOCK8	ORPHA:217390
HP:0011821	Abnormal facial skeleton morphology	721	C4B	OMIM:614379
HP:0011821	Abnormal facial skeleton morphology	359948	IRF2BP2	OMIM:617765
HP:0011821	Abnormal facial skeleton morphology	6688	SPI1	OMIM:619707
HP:0011821	Abnormal facial skeleton morphology	5696	PSMB8	OMIM:256040
HP:0011821	Abnormal facial skeleton morphology	2214	FCGR3A	OMIM:615707
HP:0011821	Abnormal facial skeleton morphology	27019	DNAI1	OMIM:244400
HP:0011821	Abnormal facial skeleton morphology	27019	DNAI1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	85016	CFAP300	OMIM:618063
HP:0011821	Abnormal facial skeleton morphology	85016	CFAP300	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	2212	FCGR2A	OMIM:219700
HP:0011821	Abnormal facial skeleton morphology	83538	ODAD4	OMIM:617092
HP:0011821	Abnormal facial skeleton morphology	83538	ODAD4	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	92749	DRC1	OMIM:615294
HP:0011821	Abnormal facial skeleton morphology	92749	DRC1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	1770	DNAH9	OMIM:618300
HP:0011821	Abnormal facial skeleton morphology	1770	DNAH9	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	83861	RSPH3	OMIM:616481
HP:0011821	Abnormal facial skeleton morphology	83861	RSPH3	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	6103	RPGR	OMIM:300455
HP:0011821	Abnormal facial skeleton morphology	6103	RPGR	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	79848	CSPP1	OMIM:615636
HP:0011821	Abnormal facial skeleton morphology	5238	PGM3	ORPHA:443811
HP:0011821	Abnormal facial skeleton morphology	64446	DNAI2	OMIM:612444
HP:0011821	Abnormal facial skeleton morphology	64446	DNAI2	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	6890	TAP1	OMIM:604571
HP:0011821	Abnormal facial skeleton morphology	6891	TAP2	OMIM:604571
HP:0011821	Abnormal facial skeleton morphology	6892	TAPBP	OMIM:604571
HP:0011821	Abnormal facial skeleton morphology	54440	SASH3	OMIM:301082
HP:0011821	Abnormal facial skeleton morphology	3514	IGKC	ORPHA:183675
HP:0011821	Abnormal facial skeleton morphology	3501	IGHG2	ORPHA:183675
HP:0011821	Abnormal facial skeleton morphology	3981	LIG4	OMIM:606593
HP:0011821	Abnormal facial skeleton morphology	25981	DNAH1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	115948	ODAD3	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	115948	ODAD3	OMIM:616037
HP:0011821	Abnormal facial skeleton morphology	54768	HYDIN	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	27148	STK36	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	54970	TTC12	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	152110	NEK10	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	2302	FOXJ1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	2302	FOXJ1	OMIM:618699
HP:0011821	Abnormal facial skeleton morphology	221421	RSPH9	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	221421	RSPH9	OMIM:612650
HP:0011821	Abnormal facial skeleton morphology	85478	CCDC65	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	85478	CCDC65	OMIM:615504
HP:0011821	Abnormal facial skeleton morphology	55036	CCDC40	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	55036	CCDC40	OMIM:613808
HP:0011821	Abnormal facial skeleton morphology	51364	ZMYND10	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	6674	SPAG1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	83544	DNAL1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	83544	DNAL1	OMIM:614017
HP:0011821	Abnormal facial skeleton morphology	89765	RSPH1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	200373	CFAP221	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	374407	DNAJB13	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	55172	DNAAF2	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	55172	DNAAF2	OMIM:612518
HP:0011821	Abnormal facial skeleton morphology	161582	DNAAF4	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	2622	GAS8	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	23639	DNAAF11	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	345895	RSPH4A	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	54919	DNAAF5	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	388389	CCDC103	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	388389	CCDC103	OMIM:614679
HP:0011821	Abnormal facial skeleton morphology	93233	ODAD1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	55130	ODAD2	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	1767	DNAH5	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	345643	MCIDAS	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	56683	CFAP298	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	79925	SPEF2	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	10309	CCNO	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	115399	LRRC56	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	139212	DNAAF6	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	123872	DNAAF1	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	339829	CCDC39	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	339829	CCDC39	OMIM:613807
HP:0011821	Abnormal facial skeleton morphology	8701	DNAH11	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	246176	GAS2L2	ORPHA:244
HP:0011821	Abnormal facial skeleton morphology	146845	CFAP52	OMIM:619607
HP:0011821	Abnormal facial skeleton morphology	25790	CFAP45	OMIM:619608
HP:0011821	Abnormal facial skeleton morphology	165918	RNF168	ORPHA:420741
HP:0011821	Abnormal facial skeleton morphology	3423	IDS	ORPHA:217085
HP:0011821	Abnormal facial skeleton morphology	3423	IDS	ORPHA:217093
HP:0011821	Abnormal facial skeleton morphology	23230	VPS13A	ORPHA:2388
HP:0011821	Abnormal facial skeleton morphology	60482	SLC5A7	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	4649	MYO9A	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	1103	CHAT	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	6576	SLC25A1	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	6843	VAMP1	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	375790	AGRN	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	127833	SYT2	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	6616	SNAP25	ORPHA:98914
HP:0011821	Abnormal facial skeleton morphology	8812	CCNK	OMIM:618147
HP:0011821	Abnormal facial skeleton morphology	83550	GPR101	ORPHA:963
HP:0011821	Abnormal facial skeleton morphology	9049	AIP	ORPHA:963
HP:0011821	Abnormal facial skeleton morphology	5573	PRKAR1A	ORPHA:1359
HP:0011821	Abnormal facial skeleton morphology	50940	PDE11A	ORPHA:1359
HP:0011821	Abnormal facial skeleton morphology	9839	ZEB2	ORPHA:261552
HP:0011821	Abnormal facial skeleton morphology	6452	SH3BP2	OMIM:118400
HP:0011821	Abnormal facial skeleton morphology	1272	CNTN1	OMIM:612540
HP:0011821	Abnormal facial skeleton morphology	8815	BANF1	OMIM:614008
HP:0011821	Abnormal facial skeleton morphology	117581	TWIST2	OMIM:200110
HP:0011821	Abnormal facial skeleton morphology	25885	POLR1A	OMIM:616462
HP:0011821	Abnormal facial skeleton morphology	26137	ZBTB20	OMIM:259050
HP:0011821	Abnormal facial skeleton morphology	2316	FLNA	OMIM:300048
HP:0011821	Abnormal facial skeleton morphology	4041	LRP5	OMIM:607634
HP:0011821	Abnormal facial skeleton morphology	79577	CDC73	ORPHA:143
HP:0011821	Abnormal facial skeleton morphology	79577	CDC73	ORPHA:99880
HP:0011821	Abnormal facial skeleton morphology	6335	SCN9A	OMIM:167400
HP:0011821	Abnormal facial skeleton morphology	404672	GTF2H5	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	833	CARS1	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	2068	ERCC2	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	7737	RNF113A	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	136647	MPLKIP	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	6897	TARS1	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	2071	ERCC3	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	2961	GTF2E2	ORPHA:33364
HP:0011821	Abnormal facial skeleton morphology	4125	MAN2B1	ORPHA:309282
HP:0011821	Abnormal facial skeleton morphology	6660	SOX5	ORPHA:313892
HP:0011821	Abnormal facial skeleton morphology	1173	AP2M1	OMIM:618587
HP:0011821	Abnormal facial skeleton morphology	27107	ZBTB11	OMIM:618383
HP:0011821	Abnormal facial skeleton morphology	55084	SOBP	OMIM:613671
HP:0011822	Broad chin	63932	STEEP1	OMIM:301013
HP:0011822	Broad chin	6558	SLC12A2	OMIM:619080
HP:0011822	Broad chin	284058	KANSL1	ORPHA:363965
HP:0011822	Broad chin	284058	KANSL1	ORPHA:363958
HP:0011822	Broad chin	284058	KANSL1	OMIM:610443
HP:0011822	Broad chin	253738	EBF3	OMIM:617330
HP:0011822	Broad chin	6872	TAF1	OMIM:300966
HP:0011822	Broad chin	1859	DYRK1A	ORPHA:268261
HP:0011822	Broad chin	4010	LMX1B	ORPHA:495818
HP:0011822	Broad chin	6812	STXBP1	ORPHA:495818
HP:0011822	Broad chin	51322	WAC	ORPHA:466950
HP:0011823	Chin with horizontal crease	117581	TWIST2	OMIM:227260
HP:0011823	Chin with horizontal crease	7227	TRPS1	OMIM:190350
HP:0011823	Chin with horizontal crease	79005	SCNM1	OMIM:620107
HP:0011823	Chin with horizontal crease	1009	CDH11	OMIM:619736
HP:0011823	Chin with horizontal crease	8726	EED	OMIM:617561
HP:0011823	Chin with horizontal crease	388015	RTL1	ORPHA:96334
HP:0011823	Chin with horizontal crease	8788	DLK1	ORPHA:96334
HP:0011823	Chin with horizontal crease	55384	MEG3	ORPHA:96334
HP:0011823	Chin with horizontal crease	27086	FOXP1	ORPHA:391372
HP:0011823	Chin with horizontal crease	8260	NAA10	OMIM:300855
HP:0011824	Chin with H-shaped crease	4621	MYH3	OMIM:193700
HP:0011824	Chin with H-shaped crease	388015	RTL1	ORPHA:96334
HP:0011824	Chin with H-shaped crease	8788	DLK1	ORPHA:96334
HP:0011824	Chin with H-shaped crease	55384	MEG3	ORPHA:96334
HP:0011824	Chin with H-shaped crease	259232	NALCN	OMIM:616266
HP:0011825	Tented philtrum	4010	LMX1B	ORPHA:495818
HP:0011825	Tented philtrum	6812	STXBP1	ORPHA:495818
HP:0011825	Tented philtrum	4081	MAB21L1	OMIM:618479
HP:0011829	Narrow philtrum	55181	SMG8	OMIM:619268
HP:0011829	Narrow philtrum	5159	PDGFRB	OMIM:601812
HP:0001611	Hypernasal speech	4487	MSX1	ORPHA:141291
HP:0001611	Hypernasal speech	4487	MSX1	ORPHA:199306
HP:0001611	Hypernasal speech	5818	NECTIN1	ORPHA:141291
HP:0001611	Hypernasal speech	5818	NECTIN1	ORPHA:199306
HP:0001611	Hypernasal speech	8626	TP63	ORPHA:141291
HP:0001611	Hypernasal speech	8626	TP63	ORPHA:199306
HP:0001611	Hypernasal speech	3664	IRF6	ORPHA:141291
HP:0001611	Hypernasal speech	3664	IRF6	ORPHA:199306
HP:0001611	Hypernasal speech	353116	RILPL1	OMIM:619790
HP:0001611	Hypernasal speech	6611	SMS	ORPHA:3063
HP:0001611	Hypernasal speech	6611	SMS	OMIM:309583
HP:0001611	Hypernasal speech	8036	SHOC2	OMIM:607721
HP:0001611	Hypernasal speech	4621	MYH3	ORPHA:2053
HP:0001611	Hypernasal speech	4621	MYH3	OMIM:193700
HP:0001611	Hypernasal speech	259232	NALCN	ORPHA:2053
HP:0001611	Hypernasal speech	65109	UPF3B	OMIM:300676
HP:0001611	Hypernasal speech	65109	UPF3B	ORPHA:776
HP:0001611	Hypernasal speech	6628	SNRPB	OMIM:117650
HP:0001611	Hypernasal speech	4593	MUSK	OMIM:616325
HP:0001611	Hypernasal speech	27286	SRPX2	ORPHA:163721
HP:0001611	Hypernasal speech	2903	GRIN2A	ORPHA:163721
HP:0001611	Hypernasal speech	84617	TUBB6	OMIM:617732
HP:0001611	Hypernasal speech	57863	CADM3	OMIM:619519
HP:0001611	Hypernasal speech	29926	GMPPA	OMIM:615510
HP:0001611	Hypernasal speech	79912	PYROXD1	OMIM:617258
HP:0001611	Hypernasal speech	6418	SET	OMIM:618106
HP:0001611	Hypernasal speech	9968	MED12	OMIM:309520
HP:0001611	Hypernasal speech	9968	MED12	ORPHA:776
HP:0001611	Hypernasal speech	6899	TBX1	ORPHA:1727
HP:0001611	Hypernasal speech	6899	TBX1	OMIM:192430
HP:0001611	Hypernasal speech	6899	TBX1	ORPHA:567
HP:0001611	Hypernasal speech	6899	TBX1	OMIM:188400
HP:0001611	Hypernasal speech	6571	SLC18A2	ORPHA:352649
HP:0001611	Hypernasal speech	6571	SLC18A2	OMIM:618049
HP:0001611	Hypernasal speech	7681	MKRN3	OMIM:176270
HP:0001611	Hypernasal speech	3653	IPW	OMIM:176270
HP:0001611	Hypernasal speech	54551	MAGEL2	OMIM:176270
HP:0001611	Hypernasal speech	791114	PWRN1	OMIM:176270
HP:0001611	Hypernasal speech	100033413	SNORD116-1	OMIM:176270
HP:0001611	Hypernasal speech	8924	HERC2	OMIM:176270
HP:0001611	Hypernasal speech	145624	PWAR1	OMIM:176270
HP:0001611	Hypernasal speech	23742	NPAP1	OMIM:176270
HP:0001611	Hypernasal speech	338433	SNORD115-1	OMIM:176270
HP:0001611	Hypernasal speech	92667	MGME1	ORPHA:352447
HP:0001611	Hypernasal speech	92667	MGME1	OMIM:615084
HP:0001611	Hypernasal speech	5339	PLEC	ORPHA:254361
HP:0001611	Hypernasal speech	6687	SPG7	ORPHA:99013
HP:0001611	Hypernasal speech	7314	UBB	ORPHA:99772
HP:0001611	Hypernasal speech	57822	GRHL3	ORPHA:99772
HP:0001611	Hypernasal speech	4841	NONO	OMIM:300967
HP:0001611	Hypernasal speech	4841	NONO	ORPHA:466791
HP:0001611	Hypernasal speech	4854	NOTCH3	OMIM:130720
HP:0001611	Hypernasal speech	1739	DLG1	ORPHA:199306
HP:0001611	Hypernasal speech	652	BMP4	ORPHA:199306
HP:0001611	Hypernasal speech	999	CDH1	ORPHA:199306
HP:0001611	Hypernasal speech	5156	PDGFRA	ORPHA:199306
HP:0001611	Hypernasal speech	9411	ARHGAP29	ORPHA:199306
HP:0001611	Hypernasal speech	1748	DLX4	ORPHA:199306
HP:0001611	Hypernasal speech	84466	MEGF10	OMIM:614399
HP:0001611	Hypernasal speech	23096	IQSEC2	ORPHA:217377
HP:0001611	Hypernasal speech	23261	CAMTA1	OMIM:614756
HP:0001611	Hypernasal speech	60482	SLC5A7	ORPHA:98914
HP:0001611	Hypernasal speech	4649	MYO9A	ORPHA:98914
HP:0001611	Hypernasal speech	1305	COL13A1	ORPHA:98914
HP:0001611	Hypernasal speech	1103	CHAT	ORPHA:98914
HP:0001611	Hypernasal speech	6576	SLC25A1	ORPHA:98914
HP:0001611	Hypernasal speech	6843	VAMP1	ORPHA:98914
HP:0001611	Hypernasal speech	375790	AGRN	ORPHA:98914
HP:0001611	Hypernasal speech	127833	SYT2	ORPHA:98914
HP:0001611	Hypernasal speech	127833	SYT2	OMIM:619461
HP:0001611	Hypernasal speech	6572	SLC18A3	ORPHA:98914
HP:0001611	Hypernasal speech	6616	SNAP25	ORPHA:98914
HP:0001611	Hypernasal speech	10472	ZBTB18	OMIM:612337
HP:0001611	Hypernasal speech	10847	SRCAP	ORPHA:2044
HP:0001611	Hypernasal speech	9993	DGCR2	OMIM:192430
HP:0001611	Hypernasal speech	8220	ESS2	OMIM:192430
HP:0001611	Hypernasal speech	8214	DGCR6	OMIM:192430
HP:0001611	Hypernasal speech	54487	DGCR8	OMIM:192430
HP:0001611	Hypernasal speech	6519	SLC3A1	ORPHA:163690
HP:0001611	Hypernasal speech	6519	SLC3A1	ORPHA:163693
HP:0001611	Hypernasal speech	9581	PREPL	ORPHA:163690
HP:0001611	Hypernasal speech	9581	PREPL	ORPHA:163693
HP:0001611	Hypernasal speech	9499	MYOT	ORPHA:98911
HP:0001611	Hypernasal speech	8106	PABPN1	OMIM:164300
HP:0001611	Hypernasal speech	51114	ZDHHC9	ORPHA:776
HP:0001611	Hypernasal speech	5495	PPM1B	ORPHA:163693
HP:0001611	Hypernasal speech	79823	CAMKMT	ORPHA:163693
HP:0001611	Hypernasal speech	139285	AMER1	OMIM:300373
HP:0001611	Hypernasal speech	57190	SELENON	OMIM:602771
HP:0001611	Hypernasal speech	10084	PQBP1	OMIM:309500
HP:0001611	Hypernasal speech	4256	MGP	OMIM:245150
HP:0001611	Hypernasal speech	84665	MYPN	ORPHA:171881
HP:0001611	Hypernasal speech	7169	TPM2	ORPHA:171881
HP:0001611	Hypernasal speech	7170	TPM3	ORPHA:171881
HP:0001611	Hypernasal speech	146862	UNC45B	OMIM:619178
HP:0001611	Hypernasal speech	23545	ATP6V0A2	ORPHA:2834
HP:0001611	Hypernasal speech	23545	ATP6V0A2	OMIM:278250
HP:0001611	Hypernasal speech	5116	PCNT	ORPHA:2637
HP:0001611	Hypernasal speech	284058	KANSL1	OMIM:610443
HP:0001611	Hypernasal speech	29967	LRP12	OMIM:164310
HP:0001611	Hypernasal speech	1312	COMT	ORPHA:567
HP:0001611	Hypernasal speech	221037	JMJD1C	ORPHA:567
HP:0001611	Hypernasal speech	2812	GP1BB	ORPHA:567
HP:0001611	Hypernasal speech	6239	RREB1	ORPHA:567
HP:0001611	Hypernasal speech	7290	HIRA	ORPHA:567
HP:0001611	Hypernasal speech	9632	SEC24C	ORPHA:567
HP:0001611	Hypernasal speech	7353	UFD1	ORPHA:567
HP:0001611	Hypernasal speech	421	ARVCF	ORPHA:567
HP:0001611	Hypernasal speech	9782	MATR3	ORPHA:600
HP:0001611	Hypernasal speech	4848	CNOT2	OMIM:618608
HP:0001611	Hypernasal speech	23133	PHF8	OMIM:300263
HP:0001611	Hypernasal speech	7020	TFAP2A	OMIM:113620
HP:0001611	Hypernasal speech	7020	TFAP2A	ORPHA:1297
HP:0001611	Hypernasal speech	1781	DYNC1I2	OMIM:618492
HP:0001611	Hypernasal speech	11141	IL1RAPL1	OMIM:300143
HP:0001611	Hypernasal speech	5428	POLG	OMIM:607459
HP:0001611	Hypernasal speech	56652	TWNK	OMIM:607459
HP:0001611	Hypernasal speech	10533	ATG7	OMIM:619422
HP:0001611	Hypernasal speech	3977	LIFR	OMIM:601559
HP:0001611	Hypernasal speech	101929726	MYMX	OMIM:619941
HP:0001611	Hypernasal speech	9731	CEP104	OMIM:619988
HP:0001611	Hypernasal speech	6638	SNRPN	ORPHA:177907
HP:0001611	Hypernasal speech	9531	BAG3	OMIM:612954
HP:0001611	Hypernasal speech	9244	CRLF1	OMIM:272430
HP:0001612	Weak cry	2218	FKTN	ORPHA:272
HP:0001612	Weak cry	2673	GFPT1	OMIM:608931
HP:0001612	Weak cry	1145	CHRNE	OMIM:608931
HP:0001612	Weak cry	1145	CHRNE	OMIM:605809
HP:0001612	Weak cry	4728	NDUFS8	OMIM:618222
HP:0001612	Weak cry	5913	RAPSN	OMIM:618388
HP:0001612	Weak cry	5913	RAPSN	OMIM:616326
HP:0001612	Weak cry	157680	VPS13B	ORPHA:193
HP:0001612	Weak cry	1144	CHRND	OMIM:616322
HP:0001612	Weak cry	57128	LYRM4	OMIM:615595
HP:0001612	Weak cry	5393	EXOSC9	OMIM:618065
HP:0001612	Weak cry	1103	CHAT	OMIM:254210
HP:0001612	Weak cry	1103	CHAT	ORPHA:98914
HP:0001612	Weak cry	9453	GGPS1	OMIM:619518
HP:0001612	Weak cry	1134	CHRNA1	OMIM:608930
HP:0001612	Weak cry	546	ATRX	OMIM:301040
HP:0001612	Weak cry	3909	LAMA3	OMIM:245660
HP:0001612	Weak cry	4976	OPA1	OMIM:616896
HP:0001612	Weak cry	6492	SIM1	ORPHA:398079
HP:0001612	Weak cry	60482	SLC5A7	ORPHA:98914
HP:0001612	Weak cry	4649	MYO9A	ORPHA:98914
HP:0001612	Weak cry	1305	COL13A1	ORPHA:98914
HP:0001612	Weak cry	6576	SLC25A1	ORPHA:98914
HP:0001612	Weak cry	6843	VAMP1	ORPHA:98914
HP:0001612	Weak cry	375790	AGRN	ORPHA:98914
HP:0001612	Weak cry	127833	SYT2	ORPHA:98914
HP:0001612	Weak cry	127833	SYT2	OMIM:619461
HP:0001612	Weak cry	6572	SLC18A3	ORPHA:98914
HP:0001612	Weak cry	6616	SNAP25	ORPHA:98914
HP:0001612	Weak cry	8292	COLQ	ORPHA:98915
HP:0001612	Weak cry	8292	COLQ	OMIM:603034
HP:0001612	Weak cry	3913	LAMB2	ORPHA:98915
HP:0001612	Weak cry	9200	HACD1	OMIM:619967
HP:0001612	Weak cry	3508	IGHMBP2	OMIM:604320
HP:0001612	Weak cry	443	ASPA	ORPHA:314911
HP:0001612	Weak cry	1410	CRYAB	OMIM:613869
HP:0001612	Weak cry	3908	LAMA2	ORPHA:258
HP:0001612	Weak cry	79068	FTO	OMIM:612938
HP:0001612	Weak cry	427	ASAH1	ORPHA:333
HP:0001612	Weak cry	79989	IFT56	OMIM:619534
HP:0001612	Weak cry	25836	NIPBL	OMIM:122470
HP:0001612	Weak cry	54551	MAGEL2	ORPHA:398069
HP:0001612	Weak cry	54551	MAGEL2	OMIM:615547
HP:0001612	Weak cry	5824	PEX19	OMIM:614886
HP:0001612	Weak cry	6261	RYR1	ORPHA:324581
HP:0001612	Weak cry	129285	PPP1R21	OMIM:619383
HP:0001612	Weak cry	7317	UBA1	OMIM:301830
HP:0001612	Weak cry	7170	TPM3	OMIM:255310
HP:0001612	Weak cry	57017	COQ9	OMIM:614654
HP:0001612	Weak cry	80199	FUZ	ORPHA:1136
HP:0001612	Weak cry	7407	VARS1	OMIM:617802
HP:0001612	Weak cry	6638	SNRPN	ORPHA:177907
HP:0001612	Weak cry	9325	TRIP4	ORPHA:486815
HP:0001612	Weak cry	8085	KMT2D	OMIM:147920
HP:0001612	Weak cry	7403	KDM6A	OMIM:147920
HP:0001615	Hoarse cry	3909	LAMA3	ORPHA:79404
HP:0001615	Hoarse cry	3909	LAMA3	OMIM:245660
HP:0001615	Hoarse cry	3918	LAMC2	ORPHA:79404
HP:0001615	Hoarse cry	3914	LAMB3	ORPHA:79404
HP:0001615	Hoarse cry	427	ASAH1	ORPHA:333
HP:0001615	Hoarse cry	427	ASAH1	OMIM:228000
HP:0001615	Hoarse cry	7849	PAX8	OMIM:218700
HP:0001615	Hoarse cry	23556	PIGN	ORPHA:280633
HP:0001615	Hoarse cry	3861	KRT14	OMIM:131760
HP:0001615	Hoarse cry	3852	KRT5	OMIM:131760
HP:0001615	Hoarse cry	8425	LTBP4	OMIM:613177
HP:0001615	Hoarse cry	50506	DUOX2	ORPHA:226316
HP:0001615	Hoarse cry	2146	EZH2	OMIM:277590
HP:0001615	Hoarse cry	388015	RTL1	ORPHA:96334
HP:0001615	Hoarse cry	8788	DLK1	ORPHA:96334
HP:0001615	Hoarse cry	55384	MEG3	ORPHA:96334
HP:0001615	Hoarse cry	7252	TSHB	OMIM:275100
HP:0001615	Hoarse cry	7252	TSHB	ORPHA:90674
HP:0001618	Dysphonia	25792	CIZ1	ORPHA:420492
HP:0001618	Dysphonia	274	BIN1	ORPHA:169186
HP:0001618	Dysphonia	274	BIN1	OMIM:255200
HP:0001618	Dysphonia	10290	SPEG	ORPHA:169186
HP:0001618	Dysphonia	6261	RYR1	ORPHA:169186
HP:0001618	Dysphonia	7273	TTN	ORPHA:169186
HP:0001618	Dysphonia	2512	FTL	OMIM:606159
HP:0001618	Dysphonia	2512	FTL	ORPHA:157846
HP:0001618	Dysphonia	9757	KMT2B	ORPHA:589618
HP:0001618	Dysphonia	9757	KMT2B	OMIM:617284
HP:0001618	Dysphonia	2774	GNAL	OMIM:615073
HP:0001618	Dysphonia	54902	TTC19	OMIM:615157
HP:0001618	Dysphonia	1410	CRYAB	ORPHA:399058
HP:0001618	Dysphonia	7428	VHL	ORPHA:29072
HP:0001618	Dysphonia	7428	VHL	ORPHA:276621
HP:0001618	Dysphonia	1743	DLST	ORPHA:29072
HP:0001618	Dysphonia	4191	MDH2	ORPHA:29072
HP:0001618	Dysphonia	5979	RET	ORPHA:29072
HP:0001618	Dysphonia	5979	RET	ORPHA:276621
HP:0001618	Dysphonia	6389	SDHA	ORPHA:29072
HP:0001618	Dysphonia	23095	KIF1B	ORPHA:29072
HP:0001618	Dysphonia	2271	FH	ORPHA:29072
HP:0001618	Dysphonia	8402	SLC25A11	ORPHA:29072
HP:0001618	Dysphonia	54949	SDHAF2	ORPHA:29072
HP:0001618	Dysphonia	55654	TMEM127	ORPHA:29072
HP:0001618	Dysphonia	4763	NF1	ORPHA:29072
HP:0001618	Dysphonia	6391	SDHC	ORPHA:29072
HP:0001618	Dysphonia	6392	SDHD	ORPHA:29072
HP:0001618	Dysphonia	6392	SDHD	ORPHA:276621
HP:0001618	Dysphonia	6390	SDHB	ORPHA:29072
HP:0001618	Dysphonia	6390	SDHB	ORPHA:276621
HP:0001618	Dysphonia	4149	MAX	ORPHA:29072
HP:0001618	Dysphonia	6804	STX1A	ORPHA:904
HP:0001618	Dysphonia	7461	CLIP2	ORPHA:904
HP:0001618	Dysphonia	84277	DNAJC30	ORPHA:904
HP:0001618	Dysphonia	8468	FKBP6	ORPHA:904
HP:0001618	Dysphonia	5982	RFC2	ORPHA:904
HP:0001618	Dysphonia	2969	GTF2I	ORPHA:904
HP:0001618	Dysphonia	3984	LIMK1	ORPHA:904
HP:0001618	Dysphonia	9569	GTF2IRD1	ORPHA:904
HP:0001618	Dysphonia	155382	VPS37D	ORPHA:904
HP:0001618	Dysphonia	155368	METTL27	ORPHA:904
HP:0001618	Dysphonia	114049	BUD23	ORPHA:904
HP:0001618	Dysphonia	7458	EIF4H	ORPHA:904
HP:0001618	Dysphonia	84163	GTF2IRD2	ORPHA:904
HP:0001618	Dysphonia	9275	BCL7B	ORPHA:904
HP:0001618	Dysphonia	26608	TBL2	ORPHA:904
HP:0001618	Dysphonia	653361	NCF1	ORPHA:904
HP:0001618	Dysphonia	135886	TMEM270	ORPHA:904
HP:0001618	Dysphonia	51085	MLXIPL	ORPHA:904
HP:0001618	Dysphonia	9031	BAZ1B	ORPHA:904
HP:0001618	Dysphonia	2006	ELN	ORPHA:904
HP:0001618	Dysphonia	10382	TUBB4A	ORPHA:98805
HP:0001618	Dysphonia	10382	TUBB4A	OMIM:128101
HP:0001618	Dysphonia	6650	CAPN15	OMIM:619318
HP:0001618	Dysphonia	27235	COQ2	ORPHA:227510
HP:0001618	Dysphonia	5428	POLG	OMIM:258450
HP:0001618	Dysphonia	80025	PANK2	OMIM:234200
HP:0001618	Dysphonia	4758	NEU1	ORPHA:93399
HP:0001618	Dysphonia	92667	MGME1	ORPHA:352447
HP:0001618	Dysphonia	92667	MGME1	OMIM:615084
HP:0001618	Dysphonia	60482	SLC5A7	OMIM:617143
HP:0001618	Dysphonia	60482	SLC5A7	ORPHA:98914
HP:0001618	Dysphonia	2670	GFAP	ORPHA:363722
HP:0001618	Dysphonia	55145	THAP1	OMIM:602629
HP:0001618	Dysphonia	4649	MYO9A	ORPHA:98914
HP:0001618	Dysphonia	1305	COL13A1	ORPHA:98914
HP:0001618	Dysphonia	1103	CHAT	ORPHA:98914
HP:0001618	Dysphonia	6576	SLC25A1	ORPHA:98914
HP:0001618	Dysphonia	6843	VAMP1	ORPHA:98914
HP:0001618	Dysphonia	375790	AGRN	ORPHA:98914
HP:0001618	Dysphonia	127833	SYT2	ORPHA:98914
HP:0001618	Dysphonia	6572	SLC18A3	ORPHA:98914
HP:0001618	Dysphonia	6616	SNAP25	ORPHA:98914
HP:0001618	Dysphonia	427	ASAH1	ORPHA:333
HP:0001618	Dysphonia	8575	PRKRA	ORPHA:210571
HP:0001618	Dysphonia	8575	PRKRA	OMIM:612067
HP:0001618	Dysphonia	1896	EDA	OMIM:305100
HP:0001618	Dysphonia	1716	DGUOK	OMIM:617070
HP:0001618	Dysphonia	1716	DGUOK	ORPHA:329314
HP:0001618	Dysphonia	3300	DNAJB2	OMIM:614881
HP:0001618	Dysphonia	50484	RRM2B	OMIM:613077
HP:0001618	Dysphonia	1788	DNMT3A	ORPHA:276621
HP:0001618	Dysphonia	2034	EPAS1	ORPHA:276621
HP:0001618	Dysphonia	81846	SBF2	ORPHA:99956
HP:0001618	Dysphonia	404672	GTF2H5	ORPHA:33364
HP:0001618	Dysphonia	833	CARS1	ORPHA:33364
HP:0001618	Dysphonia	2068	ERCC2	ORPHA:33364
HP:0001618	Dysphonia	7737	RNF113A	ORPHA:33364
HP:0001618	Dysphonia	136647	MPLKIP	ORPHA:33364
HP:0001618	Dysphonia	6897	TARS1	ORPHA:33364
HP:0001618	Dysphonia	2071	ERCC3	ORPHA:33364
HP:0001618	Dysphonia	2961	GTF2E2	ORPHA:33364
HP:0001618	Dysphonia	29967	LRP12	OMIM:164310
HP:0001618	Dysphonia	3339	HSPG2	ORPHA:800
HP:0001618	Dysphonia	56652	TWNK	OMIM:609286
HP:0001618	Dysphonia	3098	HK1	OMIM:605285
HP:0001618	Dysphonia	367	AR	ORPHA:481
HP:0001618	Dysphonia	79734	KCTD17	OMIM:616398
HP:0001618	Dysphonia	51305	KCNK9	ORPHA:166108
HP:0001618	Dysphonia	246243	RNASEH1	OMIM:616479
HP:0001618	Dysphonia	80199	FUZ	ORPHA:1136
HP:0001618	Dysphonia	27010	TPK1	OMIM:614458
HP:0001618	Dysphonia	64374	SIL1	ORPHA:559
HP:0001618	Dysphonia	51763	INPP5K	ORPHA:559
HP:0001618	Dysphonia	9927	MFN2	ORPHA:99947
HP:0001618	Dysphonia	343641	TGM6	OMIM:613908
HP:0001618	Dysphonia	343641	TGM6	ORPHA:276193
HP:0001618	Dysphonia	5654	HTRA1	ORPHA:199354
HP:0001618	Dysphonia	4841	NONO	ORPHA:466791
HP:0001618	Dysphonia	5917	RARS1	OMIM:616140
HP:0001618	Dysphonia	5917	RARS1	ORPHA:438114
HP:0001618	Dysphonia	5832	ALDH18A1	OMIM:616586
HP:0001618	Dysphonia	1593	CYP27A1	OMIM:213700
HP:0001618	Dysphonia	9289	ADGRG1	ORPHA:98889
HP:0001618	Dysphonia	5297	PI4KA	ORPHA:98889
HP:0001618	Dysphonia	27286	SRPX2	ORPHA:98889
HP:0001618	Dysphonia	57679	ALS2	OMIM:606353
HP:0001618	Dysphonia	4001	LMNB1	OMIM:169500
HP:0001618	Dysphonia	2583	B4GALNT1	ORPHA:101006
HP:0001618	Dysphonia	116150	NUS1	OMIM:617082
HP:0001618	Dysphonia	9896	FIG4	ORPHA:208441
HP:0001618	Dysphonia	22872	SEC31A	OMIM:618651
HP:0001618	Dysphonia	23503	ZFYVE26	ORPHA:100996
HP:0001618	Dysphonia	60	ACTB	OMIM:607371
HP:0001618	Dysphonia	6647	SOD1	OMIM:105400
HP:0001618	Dysphonia	5630	PRPH	OMIM:105400
HP:0001618	Dysphonia	1639	DCTN1	OMIM:105400
HP:0001618	Dysphonia	4744	NEFH	OMIM:105400
HP:0001618	Dysphonia	3145	HMBS	ORPHA:79276
HP:0001618	Dysphonia	4854	NOTCH3	OMIM:125310
HP:0001618	Dysphonia	55823	VPS11	OMIM:619637
HP:0001618	Dysphonia	2778	GNAS	ORPHA:94089
HP:0001618	Dysphonia	2778	GNAS	ORPHA:79443
HP:0001618	Dysphonia	2778	GNAS	ORPHA:79444
HP:0001618	Dysphonia	8675	STX16	ORPHA:94089
HP:0001618	Dysphonia	518	ATP5MC3	OMIM:619681
HP:0001618	Dysphonia	1293	COL6A3	OMIM:616411
HP:0001618	Dysphonia	1293	COL6A3	ORPHA:464440
HP:0001618	Dysphonia	23230	VPS13A	ORPHA:2388
HP:0011830	Abnormal oral mucosa morphology	134218	DNAJC21	OMIM:617052
HP:0011830	Abnormal oral mucosa morphology	134218	DNAJC21	ORPHA:811
HP:0011830	Abnormal oral mucosa morphology	5970	RELA	OMIM:618287
HP:0011830	Abnormal oral mucosa morphology	7128	TNFAIP3	OMIM:616744
HP:0011830	Abnormal oral mucosa morphology	4598	MVK	OMIM:260920
HP:0011830	Abnormal oral mucosa morphology	92579	G6PC3	OMIM:612541
HP:0011830	Abnormal oral mucosa morphology	6775	STAT4	ORPHA:93552
HP:0011830	Abnormal oral mucosa morphology	6775	STAT4	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	6696	SPP1	ORPHA:93552
HP:0011830	Abnormal oral mucosa morphology	3654	IRAK1	ORPHA:93552
HP:0011830	Abnormal oral mucosa morphology	3575	IL7R	OMIM:608971
HP:0011830	Abnormal oral mucosa morphology	3575	IL7R	ORPHA:169154
HP:0011830	Abnormal oral mucosa morphology	64421	DCLRE1C	OMIM:602450
HP:0011830	Abnormal oral mucosa morphology	51284	TLR7	OMIM:301080
HP:0011830	Abnormal oral mucosa morphology	6850	SYK	OMIM:619381
HP:0011830	Abnormal oral mucosa morphology	2000	ELF4	OMIM:301074
HP:0011830	Abnormal oral mucosa morphology	8737	RIPK1	OMIM:618852
HP:0011830	Abnormal oral mucosa morphology	939	CD27	OMIM:615122
HP:0011830	Abnormal oral mucosa morphology	64127	NOD2	OMIM:617321
HP:0011830	Abnormal oral mucosa morphology	51816	ADA2	OMIM:615688
HP:0011830	Abnormal oral mucosa morphology	3587	IL10RA	OMIM:613148
HP:0011830	Abnormal oral mucosa morphology	113235	SLC46A1	OMIM:229050
HP:0011830	Abnormal oral mucosa morphology	79631	EFL1	ORPHA:811
HP:0011830	Abnormal oral mucosa morphology	51119	SBDS	ORPHA:811
HP:0011830	Abnormal oral mucosa morphology	149233	IL23R	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	3586	IL10	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	4210	MEFV	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	1230	CCR1	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	355	FAS	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	3592	IL12A	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	3106	HLA-B	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	7099	TLR4	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	3459	IFNGR1	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	720	C4A	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	337867	UBAC2	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	51752	ERAP1	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	8302	KLRC4	ORPHA:117
HP:0011830	Abnormal oral mucosa morphology	1075	CTSC	OMIM:170650
HP:0011830	Abnormal oral mucosa morphology	1075	CTSC	OMIM:245010
HP:0011830	Abnormal oral mucosa morphology	1075	CTSC	OMIM:245000
HP:0011830	Abnormal oral mucosa morphology	1075	CTSC	ORPHA:678
HP:0011830	Abnormal oral mucosa morphology	847	CAT	ORPHA:926
HP:0011830	Abnormal oral mucosa morphology	7852	CXCR4	ORPHA:51636
HP:0011830	Abnormal oral mucosa morphology	55343	SLC35C1	ORPHA:99843
HP:0011830	Abnormal oral mucosa morphology	4803	NGF	ORPHA:64752
HP:0011830	Abnormal oral mucosa morphology	4914	NTRK1	ORPHA:64752
HP:0011830	Abnormal oral mucosa morphology	80232	WDR26	ORPHA:513456
HP:0011830	Abnormal oral mucosa morphology	26040	SETBP1	ORPHA:798
HP:0011830	Abnormal oral mucosa morphology	1718	DHCR24	OMIM:602398
HP:0011830	Abnormal oral mucosa morphology	4221	MEN1	ORPHA:652
HP:0011830	Abnormal oral mucosa morphology	1027	CDKN1B	ORPHA:652
HP:0011830	Abnormal oral mucosa morphology	1026	CDKN1A	ORPHA:652
HP:0011830	Abnormal oral mucosa morphology	1030	CDKN2B	ORPHA:652
HP:0011830	Abnormal oral mucosa morphology	1031	CDKN2C	ORPHA:652
HP:0011830	Abnormal oral mucosa morphology	4854	NOTCH3	ORPHA:2591
HP:0011830	Abnormal oral mucosa morphology	5159	PDGFRB	ORPHA:2591
HP:0011830	Abnormal oral mucosa morphology	63916	ELMO2	ORPHA:3019
HP:0011830	Abnormal oral mucosa morphology	7249	TSC2	OMIM:613254
HP:0011830	Abnormal oral mucosa morphology	3458	IFNG	OMIM:613254
HP:0011830	Abnormal oral mucosa morphology	7248	TSC1	OMIM:191100
HP:0011830	Abnormal oral mucosa morphology	2137	EXTL3	ORPHA:508533
HP:0011830	Abnormal oral mucosa morphology	3763	KCNJ6	ORPHA:435628
HP:0011830	Abnormal oral mucosa morphology	3763	KCNJ6	OMIM:614098
HP:0011830	Abnormal oral mucosa morphology	6309	SC5D	ORPHA:46059
HP:0011830	Abnormal oral mucosa morphology	6309	SC5D	OMIM:607330
HP:0011830	Abnormal oral mucosa morphology	8506	CNTNAP1	OMIM:618186
HP:0011830	Abnormal oral mucosa morphology	118429	ANTXR2	ORPHA:2176
HP:0011830	Abnormal oral mucosa morphology	118429	ANTXR2	ORPHA:2028
HP:0011830	Abnormal oral mucosa morphology	118429	ANTXR2	OMIM:228600
HP:0011830	Abnormal oral mucosa morphology	2720	GLB1	OMIM:230600
HP:0011830	Abnormal oral mucosa morphology	2720	GLB1	ORPHA:79255
HP:0011830	Abnormal oral mucosa morphology	2720	GLB1	OMIM:230500
HP:0011830	Abnormal oral mucosa morphology	4758	NEU1	ORPHA:93399
HP:0011830	Abnormal oral mucosa morphology	4758	NEU1	ORPHA:93400
HP:0011830	Abnormal oral mucosa morphology	114803	MYSM1	ORPHA:508542
HP:0011830	Abnormal oral mucosa morphology	57465	TBC1D24	OMIM:220500
HP:0011830	Abnormal oral mucosa morphology	57465	TBC1D24	ORPHA:79500
HP:0011830	Abnormal oral mucosa morphology	23102	TBC1D2B	OMIM:619323
HP:0011830	Abnormal oral mucosa morphology	54453	RIN2	ORPHA:217335
HP:0011830	Abnormal oral mucosa morphology	54453	RIN2	OMIM:613075
HP:0011830	Abnormal oral mucosa morphology	374654	KIF7	OMIM:200990
HP:0011830	Abnormal oral mucosa morphology	80816	ASXL3	OMIM:615485
HP:0011830	Abnormal oral mucosa morphology	1855	DVL1	OMIM:616331
HP:0011830	Abnormal oral mucosa morphology	1855	DVL1	ORPHA:3107
HP:0011830	Abnormal oral mucosa morphology	1855	DVL1	OMIM:180700
HP:0011830	Abnormal oral mucosa morphology	526	ATP6V1B2	OMIM:616455
HP:0011830	Abnormal oral mucosa morphology	526	ATP6V1B2	ORPHA:79500
HP:0011830	Abnormal oral mucosa morphology	3097	HIVEP2	OMIM:616977
HP:0011830	Abnormal oral mucosa morphology	1717	DHCR7	ORPHA:818
HP:0011830	Abnormal oral mucosa morphology	79158	GNPTAB	OMIM:252500
HP:0011830	Abnormal oral mucosa morphology	79158	GNPTAB	ORPHA:576
HP:0011830	Abnormal oral mucosa morphology	4131	MAP1B	OMIM:618918
HP:0011830	Abnormal oral mucosa morphology	56975	FAM20C	OMIM:259775
HP:0011830	Abnormal oral mucosa morphology	56975	FAM20C	ORPHA:1832
HP:0011830	Abnormal oral mucosa morphology	4784	NFIX	OMIM:602535
HP:0011830	Abnormal oral mucosa morphology	4784	NFIX	ORPHA:561
HP:0011830	Abnormal oral mucosa morphology	4784	NFIX	OMIM:614753
HP:0011830	Abnormal oral mucosa morphology	6023	RMRP	ORPHA:175
HP:0011830	Abnormal oral mucosa morphology	4001	LMNB1	OMIM:619179
HP:0011830	Abnormal oral mucosa morphology	4125	MAN2B1	OMIM:248500
HP:0011830	Abnormal oral mucosa morphology	3899	AFF3	OMIM:619297
HP:0011830	Abnormal oral mucosa morphology	54757	FAM20A	OMIM:204690
HP:0011830	Abnormal oral mucosa morphology	54757	FAM20A	ORPHA:1031
HP:0011830	Abnormal oral mucosa morphology	3756	KCNH1	OMIM:135500
HP:0011830	Abnormal oral mucosa morphology	3756	KCNH1	ORPHA:420561
HP:0011830	Abnormal oral mucosa morphology	3643	INSR	OMIM:246200
HP:0011830	Abnormal oral mucosa morphology	3643	INSR	ORPHA:769
HP:0011830	Abnormal oral mucosa morphology	3423	IDS	ORPHA:217085
HP:0011830	Abnormal oral mucosa morphology	3423	IDS	ORPHA:217093
HP:0011830	Abnormal oral mucosa morphology	64359	NXN	OMIM:618529
HP:0011830	Abnormal oral mucosa morphology	64359	NXN	ORPHA:1507
HP:0011830	Abnormal oral mucosa morphology	9326	ZNHIT3	ORPHA:2836
HP:0011830	Abnormal oral mucosa morphology	547	KIF1A	ORPHA:2836
HP:0011830	Abnormal oral mucosa morphology	7965	AIMP2	OMIM:618006
HP:0011830	Abnormal oral mucosa morphology	93627	TBCK	OMIM:616900
HP:0011830	Abnormal oral mucosa morphology	2248	FGF3	ORPHA:2791
HP:0011830	Abnormal oral mucosa morphology	4920	ROR2	ORPHA:1507
HP:0011830	Abnormal oral mucosa morphology	4920	ROR2	OMIM:268310
HP:0011830	Abnormal oral mucosa morphology	4323	MMP14	OMIM:277950
HP:0011830	Abnormal oral mucosa morphology	5340	PLG	ORPHA:722
HP:0011830	Abnormal oral mucosa morphology	5340	PLG	OMIM:217090
HP:0011830	Abnormal oral mucosa morphology	9839	ZEB2	ORPHA:261552
HP:0011830	Abnormal oral mucosa morphology	9839	ZEB2	ORPHA:261537
HP:0011830	Abnormal oral mucosa morphology	633	BGN	OMIM:300989
HP:0011830	Abnormal oral mucosa morphology	5277	PIGA	OMIM:300868
HP:0011830	Abnormal oral mucosa morphology	5277	PIGA	OMIM:301072
HP:0011830	Abnormal oral mucosa morphology	23065	EMC1	OMIM:616875
HP:0011830	Abnormal oral mucosa morphology	23065	EMC1	ORPHA:480898
HP:0011830	Abnormal oral mucosa morphology	23461	ABCA5	ORPHA:2026
HP:0011830	Abnormal oral mucosa morphology	23314	SATB2	OMIM:612313
HP:0011830	Abnormal oral mucosa morphology	5978	REST	ORPHA:2024
HP:0011830	Abnormal oral mucosa morphology	6654	SOS1	ORPHA:2024
HP:0011830	Abnormal oral mucosa morphology	3782	KCNN3	OMIM:618658
HP:0011830	Abnormal oral mucosa morphology	3425	IDUA	OMIM:607014
HP:0011830	Abnormal oral mucosa morphology	175	AGA	ORPHA:93
HP:0011830	Abnormal oral mucosa morphology	4247	MGAT2	OMIM:212066
HP:0011830	Abnormal oral mucosa morphology	54496	PRMT7	ORPHA:464288
HP:0011830	Abnormal oral mucosa morphology	50801	KCNK4	OMIM:618381
HP:0011830	Abnormal oral mucosa morphology	157680	VPS13B	ORPHA:193
HP:0011830	Abnormal oral mucosa morphology	57061	HYMAI	ORPHA:96191
HP:0011830	Abnormal oral mucosa morphology	5325	PLAGL1	ORPHA:96191
HP:0011830	Abnormal oral mucosa morphology	94005	PIGS	OMIM:618143
HP:0011830	Abnormal oral mucosa morphology	1857	DVL3	ORPHA:3107
HP:0011830	Abnormal oral mucosa morphology	1857	DVL3	OMIM:616894
HP:0011830	Abnormal oral mucosa morphology	7474	WNT5A	ORPHA:3107
HP:0011830	Abnormal oral mucosa morphology	7474	WNT5A	OMIM:180700
HP:0011830	Abnormal oral mucosa morphology	2535	FZD2	ORPHA:3107
HP:0011830	Abnormal oral mucosa morphology	117581	TWIST2	OMIM:209885
HP:0011830	Abnormal oral mucosa morphology	8239	USP9X	ORPHA:480880
HP:0011830	Abnormal oral mucosa morphology	6804	STX1A	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	7461	CLIP2	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	84277	DNAJC30	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	8468	FKBP6	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	5982	RFC2	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	2969	GTF2I	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	3984	LIMK1	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	9569	GTF2IRD1	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	155382	VPS37D	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	155368	METTL27	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	114049	BUD23	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	7458	EIF4H	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	84163	GTF2IRD2	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	9275	BCL7B	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	26608	TBL2	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	653361	NCF1	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	135886	TMEM270	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	51085	MLXIPL	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	9031	BAZ1B	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	2006	ELN	ORPHA:904
HP:0011830	Abnormal oral mucosa morphology	285590	SH3PXD2B	ORPHA:137834
HP:0011830	Abnormal oral mucosa morphology	285590	SH3PXD2B	OMIM:249420
HP:0011830	Abnormal oral mucosa morphology	54499	TMCO1	OMIM:213980
HP:0011830	Abnormal oral mucosa morphology	10060	ABCC9	OMIM:239850
HP:0011830	Abnormal oral mucosa morphology	23556	PIGN	ORPHA:280633
HP:0011830	Abnormal oral mucosa morphology	253959	RALGAPA1	OMIM:618797
HP:0011830	Abnormal oral mucosa morphology	51124	IER3IP1	OMIM:614231
HP:0011830	Abnormal oral mucosa morphology	2263	FGFR2	OMIM:614592
HP:0011830	Abnormal oral mucosa morphology	2263	FGFR2	OMIM:123790
HP:0011830	Abnormal oral mucosa morphology	2263	FGFR2	ORPHA:313855
HP:0011830	Abnormal oral mucosa morphology	1759	DNM1	OMIM:620352
HP:0011830	Abnormal oral mucosa morphology	26503	SLC17A5	OMIM:269920
HP:0011830	Abnormal oral mucosa morphology	2990	GUSB	OMIM:253220
HP:0011830	Abnormal oral mucosa morphology	23219	FBXO28	OMIM:619777
HP:0011830	Abnormal oral mucosa morphology	3930	LBR	OMIM:169400
HP:0011830	Abnormal oral mucosa morphology	10225	CD96	ORPHA:1308
HP:0011830	Abnormal oral mucosa morphology	3778	KCNMA1	OMIM:618729
HP:0011830	Abnormal oral mucosa morphology	4313	MMP2	OMIM:259600
HP:0011830	Abnormal oral mucosa morphology	2776	GNAQ	ORPHA:3205
HP:0011830	Abnormal oral mucosa morphology	28962	OSTM1	OMIM:259720
HP:0011830	Abnormal oral mucosa morphology	6774	STAT3	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	5371	PML	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	5914	RARA	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	359948	IRF2BP2	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	81608	FIP1L1	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	4869	NPM1	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	5573	PRKAR1A	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	54880	BCOR	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	64859	NABP1	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	6777	STAT5B	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	4926	NUMA1	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	7704	ZBTB16	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	79718	TBL1XR1	ORPHA:520
HP:0011830	Abnormal oral mucosa morphology	10533	ATG7	OMIM:619422
HP:0011830	Abnormal oral mucosa morphology	4921	DDR2	OMIM:618175
HP:0011830	Abnormal oral mucosa morphology	55315	SLC29A3	ORPHA:168569
HP:0011830	Abnormal oral mucosa morphology	2719	GPC3	OMIM:312870
HP:0011830	Abnormal oral mucosa morphology	2239	GPC4	OMIM:312870
HP:0011830	Abnormal oral mucosa morphology	81603	TRIM8	OMIM:619428
HP:0011830	Abnormal oral mucosa morphology	94	ACVRL1	OMIM:600376
HP:0011830	Abnormal oral mucosa morphology	4668	NAGA	ORPHA:79280
HP:0011830	Abnormal oral mucosa morphology	4668	NAGA	OMIM:609242
HP:0011830	Abnormal oral mucosa morphology	2022	ENG	OMIM:187300
HP:0011830	Abnormal oral mucosa morphology	9509	ADAMTS2	OMIM:225410
HP:0011830	Abnormal oral mucosa morphology	3674	ITGA2B	OMIM:273800
HP:0011830	Abnormal oral mucosa morphology	3674	ITGA2B	ORPHA:849
HP:0011830	Abnormal oral mucosa morphology	2811	GP1BA	OMIM:153670
HP:0011830	Abnormal oral mucosa morphology	2811	GP1BA	ORPHA:274
HP:0011830	Abnormal oral mucosa morphology	2811	GP1BA	OMIM:231200
HP:0011830	Abnormal oral mucosa morphology	7454	WAS	OMIM:301000
HP:0011830	Abnormal oral mucosa morphology	7454	WAS	ORPHA:906
HP:0011830	Abnormal oral mucosa morphology	2812	GP1BB	ORPHA:274
HP:0011830	Abnormal oral mucosa morphology	2812	GP1BB	OMIM:231200
HP:0011830	Abnormal oral mucosa morphology	2815	GP9	ORPHA:274
HP:0011830	Abnormal oral mucosa morphology	2815	GP9	OMIM:231200
HP:0011830	Abnormal oral mucosa morphology	2243	FGA	OMIM:202400
HP:0011830	Abnormal oral mucosa morphology	2243	FGA	ORPHA:98880
HP:0011830	Abnormal oral mucosa morphology	2243	FGA	ORPHA:98881
HP:0011830	Abnormal oral mucosa morphology	2243	FGA	ORPHA:101041
HP:0011830	Abnormal oral mucosa morphology	2244	FGB	OMIM:202400
HP:0011830	Abnormal oral mucosa morphology	2244	FGB	ORPHA:98880
HP:0011830	Abnormal oral mucosa morphology	2244	FGB	ORPHA:98881
HP:0011830	Abnormal oral mucosa morphology	2244	FGB	ORPHA:101041
HP:0011830	Abnormal oral mucosa morphology	2266	FGG	OMIM:202400
HP:0011830	Abnormal oral mucosa morphology	2266	FGG	ORPHA:98880
HP:0011830	Abnormal oral mucosa morphology	2266	FGG	ORPHA:98881
HP:0011830	Abnormal oral mucosa morphology	2266	FGG	ORPHA:101041
HP:0011830	Abnormal oral mucosa morphology	10068	IL18BP	OMIM:618549
HP:0011830	Abnormal oral mucosa morphology	3257	HPS1	OMIM:203300
HP:0011830	Abnormal oral mucosa morphology	7456	WIPF1	ORPHA:906
HP:0011830	Abnormal oral mucosa morphology	5345	SERPINF2	ORPHA:79
HP:0011830	Abnormal oral mucosa morphology	84343	HPS3	OMIM:614072
HP:0011830	Abnormal oral mucosa morphology	388552	BLOC1S3	OMIM:614077
HP:0011830	Abnormal oral mucosa morphology	3998	LMAN1	ORPHA:35909
HP:0011830	Abnormal oral mucosa morphology	90411	MCFD2	ORPHA:35909
HP:0011830	Abnormal oral mucosa morphology	2162	F13A1	OMIM:613225
HP:0011830	Abnormal oral mucosa morphology	2162	F13A1	ORPHA:331
HP:0011830	Abnormal oral mucosa morphology	2165	F13B	ORPHA:331
HP:0011830	Abnormal oral mucosa morphology	9493	KIF23	ORPHA:98870
HP:0011830	Abnormal oral mucosa morphology	29127	RACGAP1	ORPHA:98870
HP:0011830	Abnormal oral mucosa morphology	63915	BLOC1S5	OMIM:619172
HP:0011830	Abnormal oral mucosa morphology	5551	PRF1	ORPHA:88
HP:0011830	Abnormal oral mucosa morphology	2159	F10	OMIM:227600
HP:0011830	Abnormal oral mucosa morphology	2159	F10	ORPHA:328
HP:0011830	Abnormal oral mucosa morphology	2157	F8	ORPHA:169805
HP:0011830	Abnormal oral mucosa morphology	4352	MPL	ORPHA:729
HP:0011830	Abnormal oral mucosa morphology	3717	JAK2	ORPHA:729
HP:0011830	Abnormal oral mucosa morphology	54790	TET2	ORPHA:729
HP:0011830	Abnormal oral mucosa morphology	3690	ITGB3	ORPHA:849
HP:0011830	Abnormal oral mucosa morphology	2147	F2	OMIM:613679
HP:0011830	Abnormal oral mucosa morphology	9103	FCGR2C	ORPHA:3002
HP:0011830	Abnormal oral mucosa morphology	2155	F7	ORPHA:327
HP:0011830	Abnormal oral mucosa morphology	2153	F5	ORPHA:326
HP:0011830	Abnormal oral mucosa morphology	4615	MYD88	ORPHA:33226
HP:0011830	Abnormal oral mucosa morphology	2629	GBA1	ORPHA:77259
HP:0011830	Abnormal oral mucosa morphology	950	SCARB2	ORPHA:77259
HP:0011830	Abnormal oral mucosa morphology	11285	B4GALT7	ORPHA:75496
HP:0011830	Abnormal oral mucosa morphology	10804	GJB6	ORPHA:477
HP:0011830	Abnormal oral mucosa morphology	2706	GJB2	ORPHA:477
HP:0011830	Abnormal oral mucosa morphology	3689	ITGB2	OMIM:116920
HP:0011830	Abnormal oral mucosa morphology	7840	ALMS1	ORPHA:64
HP:0011830	Abnormal oral mucosa morphology	7840	ALMS1	OMIM:203800
HP:0011830	Abnormal oral mucosa morphology	55612	FERMT1	ORPHA:2908
HP:0011830	Abnormal oral mucosa morphology	55612	FERMT1	OMIM:173650
HP:0011830	Abnormal oral mucosa morphology	340024	SLC6A19	ORPHA:2116
HP:0011830	Abnormal oral mucosa morphology	57393	CLTRN	ORPHA:2116
HP:0011830	Abnormal oral mucosa morphology	10379	IRF9	OMIM:618648
HP:0011830	Abnormal oral mucosa morphology	9842	PLEKHM1	OMIM:618107
HP:0011830	Abnormal oral mucosa morphology	959	CD40LG	OMIM:308230
HP:0011830	Abnormal oral mucosa morphology	10312	TCIRG1	ORPHA:486
HP:0011830	Abnormal oral mucosa morphology	1991	ELANE	ORPHA:486
HP:0011830	Abnormal oral mucosa morphology	1991	ELANE	ORPHA:2686
HP:0011830	Abnormal oral mucosa morphology	2672	GFI1	ORPHA:486
HP:0011830	Abnormal oral mucosa morphology	6729	SRP54	ORPHA:486
HP:0011830	Abnormal oral mucosa morphology	81570	CLPB	ORPHA:486
HP:0011830	Abnormal oral mucosa morphology	6785	ELOVL4	OMIM:614457
HP:0011830	Abnormal oral mucosa morphology	54809	SAMD9	OMIM:610455
HP:0011830	Abnormal oral mucosa morphology	1130	LYST	OMIM:214500
HP:0011830	Abnormal oral mucosa morphology	3853	KRT6A	OMIM:615726
HP:0011830	Abnormal oral mucosa morphology	4952	OCRL	ORPHA:534
HP:0011830	Abnormal oral mucosa morphology	1536	CYBB	ORPHA:379
HP:0011830	Abnormal oral mucosa morphology	4688	NCF2	ORPHA:379
HP:0011830	Abnormal oral mucosa morphology	1535	CYBA	ORPHA:379
HP:0011830	Abnormal oral mucosa morphology	4689	NCF4	ORPHA:379
HP:0011830	Abnormal oral mucosa morphology	79415	CYBC1	ORPHA:379
HP:0011830	Abnormal oral mucosa morphology	2542	SLC37A4	ORPHA:79259
HP:0011830	Abnormal oral mucosa morphology	92344	GORAB	OMIM:231070
HP:0011830	Abnormal oral mucosa morphology	8546	AP3B1	OMIM:608233
HP:0011830	Abnormal oral mucosa morphology	375056	MIA3	OMIM:619269
HP:0011830	Abnormal oral mucosa morphology	80169	CTC1	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	26277	TINF2	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	55651	NHP2	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	79650	USB1	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	55135	WRAP53	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	51750	RTEL1	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	7012	TERC	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	55505	NOP10	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	5073	PARN	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	7015	TERT	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	1736	DKC1	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	7298	TYMS	ORPHA:1775
HP:0011830	Abnormal oral mucosa morphology	4853	NOTCH2	ORPHA:955
HP:0011830	Abnormal oral mucosa morphology	165	AEBP1	ORPHA:536532
HP:0011830	Abnormal oral mucosa morphology	3851	KRT4	OMIM:193900
HP:0011830	Abnormal oral mucosa morphology	79651	RHBDF2	OMIM:148500
HP:0011830	Abnormal oral mucosa morphology	286887	KRT6C	OMIM:615735
HP:0011830	Abnormal oral mucosa morphology	3868	KRT16	OMIM:167200
HP:0011830	Abnormal oral mucosa morphology	3868	KRT16	ORPHA:2309
HP:0011830	Abnormal oral mucosa morphology	65057	ACD	ORPHA:3322
HP:0011830	Abnormal oral mucosa morphology	65057	ACD	OMIM:616553
HP:0011830	Abnormal oral mucosa morphology	831	CAST	OMIM:616295
HP:0011830	Abnormal oral mucosa morphology	6117	RPA1	OMIM:619767
HP:0011830	Abnormal oral mucosa morphology	3872	KRT17	OMIM:167210
HP:0011830	Abnormal oral mucosa morphology	3872	KRT17	ORPHA:2309
HP:0011830	Abnormal oral mucosa morphology	3854	KRT6B	ORPHA:2309
HP:0011830	Abnormal oral mucosa morphology	64858	DCLRE1B	OMIM:620133
HP:0011830	Abnormal oral mucosa morphology	2642	GCGR	ORPHA:438274
HP:0011830	Abnormal oral mucosa morphology	3702	ITK	OMIM:613011
HP:0011830	Abnormal oral mucosa morphology	399	RHOH	OMIM:618307
HP:0011830	Abnormal oral mucosa morphology	55788	LMBRD1	OMIM:277380
HP:0011830	Abnormal oral mucosa morphology	55788	LMBRD1	ORPHA:79284
HP:0011830	Abnormal oral mucosa morphology	3557	IL1RN	OMIM:612852
HP:0011830	Abnormal oral mucosa morphology	25974	MMACHC	ORPHA:79282
HP:0011830	Abnormal oral mucosa morphology	7535	ZAP70	ORPHA:911
HP:0011830	Abnormal oral mucosa morphology	8942	KYNU	ORPHA:79155
HP:0011830	Abnormal oral mucosa morphology	84196	USP48	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	7157	TP53	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	9101	USP8	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	64072	CDH23	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	2908	NR3C1	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	673	BRAF	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	546	ATRX	ORPHA:96253
HP:0011830	Abnormal oral mucosa morphology	10651	MTX2	OMIM:619127
HP:0011830	Abnormal oral mucosa morphology	215	ABCD1	ORPHA:139399
HP:0011830	Abnormal oral mucosa morphology	23483	TGDS	ORPHA:1388
HP:0011830	Abnormal oral mucosa morphology	54101	RIPK4	OMIM:263650
HP:0011830	Abnormal oral mucosa morphology	114548	NLRP3	ORPHA:575
HP:0011830	Abnormal oral mucosa morphology	114548	NLRP3	OMIM:191900
HP:0011830	Abnormal oral mucosa morphology	356	FASLG	ORPHA:3261
HP:0011830	Abnormal oral mucosa morphology	5580	PRKCD	ORPHA:3261
HP:0011830	Abnormal oral mucosa morphology	843	CASP10	ORPHA:3261
HP:0011830	Abnormal oral mucosa morphology	10125	RASGRP1	ORPHA:3261
HP:0011830	Abnormal oral mucosa morphology	1053	CEBPE	OMIM:260570
HP:0011830	Abnormal oral mucosa morphology	54941	RNF125	OMIM:616260
HP:0011830	Abnormal oral mucosa morphology	84876	ORAI1	OMIM:612782
HP:0011830	Abnormal oral mucosa morphology	6097	RORC	OMIM:616622
HP:0011830	Abnormal oral mucosa morphology	84818	IL17RC	OMIM:616445
HP:0011830	Abnormal oral mucosa morphology	3117	HLA-DQA1	OMIM:212750
HP:0011830	Abnormal oral mucosa morphology	3119	HLA-DQB1	OMIM:212750
HP:0011830	Abnormal oral mucosa morphology	51311	TLR8	OMIM:301078
HP:0011830	Abnormal oral mucosa morphology	9948	WDR1	OMIM:150550
HP:0011830	Abnormal oral mucosa morphology	3569	IL6	OMIM:266600
HP:0011830	Abnormal oral mucosa morphology	146206	CARMIL2	OMIM:618131
HP:0011830	Abnormal oral mucosa morphology	10525	HYOU1	OMIM:233600
HP:0011830	Abnormal oral mucosa morphology	10892	MALT1	OMIM:615468
HP:0011830	Abnormal oral mucosa morphology	148022	TICAM1	OMIM:614850
HP:0011830	Abnormal oral mucosa morphology	5591	PRKDC	OMIM:615966
HP:0011830	Abnormal oral mucosa morphology	91662	NLRP12	OMIM:611762
HP:0011830	Abnormal oral mucosa morphology	1893	ECM1	ORPHA:530
HP:0011830	Abnormal oral mucosa morphology	5566	PRKACA	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	5567	PRKACB	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	2735	GLI1	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	2121	EVC	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	51626	DYNC2LI1	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	132884	EVC2	ORPHA:289
HP:0011830	Abnormal oral mucosa morphology	1896	EDA	OMIM:305100
HP:0011830	Abnormal oral mucosa morphology	6288	SAA1	ORPHA:85445
HP:0011830	Abnormal oral mucosa morphology	9508	ADAMTS3	ORPHA:2136
HP:0011830	Abnormal oral mucosa morphology	147372	CCBE1	ORPHA:2136
HP:0011830	Abnormal oral mucosa morphology	79633	FAT4	ORPHA:2136
HP:0011830	Abnormal oral mucosa morphology	51360	MBTPS2	ORPHA:659
HP:0011830	Abnormal oral mucosa morphology	162514	TRPV3	ORPHA:659
HP:0011830	Abnormal oral mucosa morphology	64065	PERP	ORPHA:659
HP:0011830	Abnormal oral mucosa morphology	26123	TCTN3	ORPHA:2753
HP:0011830	Abnormal oral mucosa morphology	219844	HYLS1	ORPHA:2189
HP:0011830	Abnormal oral mucosa morphology	4089	SMAD4	ORPHA:2588
HP:0011830	Abnormal oral mucosa morphology	1832	DSP	OMIM:615821
HP:0011830	Abnormal oral mucosa morphology	9896	FIG4	ORPHA:3472
HP:0011830	Abnormal oral mucosa morphology	55697	VAC14	ORPHA:3472
HP:0011830	Abnormal oral mucosa morphology	1281	COL3A1	OMIM:618343
HP:0011830	Abnormal oral mucosa morphology	11146	GLMN	ORPHA:83454
HP:0011830	Abnormal oral mucosa morphology	3909	LAMA3	ORPHA:79404
HP:0011830	Abnormal oral mucosa morphology	3918	LAMC2	ORPHA:79404
HP:0011830	Abnormal oral mucosa morphology	3914	LAMB3	ORPHA:79404
HP:0011830	Abnormal oral mucosa morphology	4312	MMP1	ORPHA:79408
HP:0011830	Abnormal oral mucosa morphology	1294	COL7A1	ORPHA:79408
HP:0011830	Abnormal oral mucosa morphology	1294	COL7A1	ORPHA:231568
HP:0011830	Abnormal oral mucosa morphology	1830	DSG3	OMIM:619226
HP:0011830	Abnormal oral mucosa morphology	3852	KRT5	ORPHA:79400
HP:0011830	Abnormal oral mucosa morphology	3861	KRT14	ORPHA:79400
HP:0011830	Abnormal oral mucosa morphology	59067	IL21	OMIM:615767
HP:0011830	Abnormal oral mucosa morphology	54440	SASH3	OMIM:301082
HP:0011830	Abnormal oral mucosa morphology	64131	XYLT1	OMIM:264800
HP:0011830	Abnormal oral mucosa morphology	64132	XYLT2	OMIM:264800
HP:0011830	Abnormal oral mucosa morphology	368	ABCC6	OMIM:264800
HP:0011830	Abnormal oral mucosa morphology	6720	SREBF1	OMIM:158310
HP:0011830	Abnormal oral mucosa morphology	715	C1R	OMIM:130080
HP:0011830	Abnormal oral mucosa morphology	716	C1S	OMIM:617174
HP:0011830	Abnormal oral mucosa morphology	6794	STK11	ORPHA:2869
HP:0011830	Abnormal oral mucosa morphology	5339	PLEC	OMIM:226730
HP:0011830	Abnormal oral mucosa morphology	5339	PLEC	ORPHA:158684
HP:0011830	Abnormal oral mucosa morphology	3691	ITGB4	OMIM:226730
HP:0011830	Abnormal oral mucosa morphology	3691	ITGB4	ORPHA:158684
HP:0011830	Abnormal oral mucosa morphology	3691	ITGB4	ORPHA:79402
HP:0011830	Abnormal oral mucosa morphology	3691	ITGB4	ORPHA:79403
HP:0011830	Abnormal oral mucosa morphology	3655	ITGA6	OMIM:619817
HP:0011830	Abnormal oral mucosa morphology	3655	ITGA6	ORPHA:79403
HP:0011830	Abnormal oral mucosa morphology	1308	COL17A1	ORPHA:79402
HP:0011830	Abnormal oral mucosa morphology	1308	COL17A1	ORPHA:79406
HP:0011832	Narrow nasal tip	4000	LMNA	ORPHA:740
HP:0011832	Narrow nasal tip	10269	ZMPSTE24	ORPHA:740
HP:0011832	Narrow nasal tip	23028	KDM1A	ORPHA:477993
HP:0011833	Overhanging nasal tip	8550	MAPKAPK5	OMIM:619869
HP:0011833	Overhanging nasal tip	25839	COG4	ORPHA:85172
HP:0011833	Overhanging nasal tip	25942	SIN3A	OMIM:613406
HP:0011833	Overhanging nasal tip	29081	METTL5	OMIM:618665
HP:0011833	Overhanging nasal tip	5566	PRKACA	OMIM:619142
HP:0011833	Overhanging nasal tip	1822	ATN1	OMIM:618494
HP:0011833	Overhanging nasal tip	7043	TGFB3	OMIM:615582
HP:0011833	Overhanging nasal tip	6925	TCF4	ORPHA:2896
HP:0011834	Moyamoya phenomenon	57674	RNF213	OMIM:607151
HP:0011834	Moyamoya phenomenon	4774	NFIA	ORPHA:401986
HP:0011834	Moyamoya phenomenon	5116	PCNT	OMIM:210720
HP:0011834	Moyamoya phenomenon	79184	BRCC3	ORPHA:280679
HP:0011834	Moyamoya phenomenon	59	ACTA2	OMIM:611788
HP:0011834	Moyamoya phenomenon	59	ACTA2	OMIM:614042
HP:0011834	Moyamoya phenomenon	10535	RNASEH2A	ORPHA:51
HP:0011834	Moyamoya phenomenon	84153	RNASEH2C	ORPHA:51
HP:0011834	Moyamoya phenomenon	25939	SAMHD1	ORPHA:51
HP:0011834	Moyamoya phenomenon	79621	RNASEH2B	ORPHA:51
HP:0011834	Moyamoya phenomenon	103	ADAR	ORPHA:51
HP:0011834	Moyamoya phenomenon	11277	TREX1	ORPHA:51
HP:0011834	Moyamoya phenomenon	100147744	RNU7-1	ORPHA:51
HP:0011834	Moyamoya phenomenon	134353	LSM11	ORPHA:51
HP:0011834	Moyamoya phenomenon	64135	IFIH1	ORPHA:51
HP:0011834	Moyamoya phenomenon	2982	GUCY1A1	ORPHA:401945
HP:0011834	Moyamoya phenomenon	2982	GUCY1A1	OMIM:615750
HP:0011835	Absent scaphoid	7516	XRCC2	OMIM:617247
HP:0011837	Partial IgA deficiency	3718	JAK3	ORPHA:35078
HP:0011838	Sclerodactyly	2697	GJA1	ORPHA:1010
HP:0011838	Sclerodactyly	56916	SMARCAD1	ORPHA:384
HP:0011838	Sclerodactyly	4000	LMNA	OMIM:212112
HP:0011838	Sclerodactyly	284654	RSPO1	OMIM:610644
HP:0011838	Sclerodactyly	3930	LBR	ORPHA:779
HP:0011838	Sclerodactyly	3930	LBR	OMIM:613471
HP:0011839	Abnormal T cell count	100	ADA	ORPHA:277
HP:0011839	Abnormal T cell count	1789	DNMT3B	OMIM:242860
HP:0011839	Abnormal T cell count	6772	STAT1	ORPHA:391487
HP:0011839	Abnormal T cell count	6909	TBX2	OMIM:618223
HP:0011839	Abnormal T cell count	55388	MCM10	OMIM:619313
HP:0011839	Abnormal T cell count	4683	NBN	OMIM:251260
HP:0011839	Abnormal T cell count	3574	IL7	OMIM:618309
HP:0011839	Abnormal T cell count	8737	RIPK1	OMIM:618108
HP:0011839	Abnormal T cell count	3718	JAK3	OMIM:600802
HP:0011839	Abnormal T cell count	3718	JAK3	ORPHA:35078
HP:0011839	Abnormal T cell count	23149	FCHO1	OMIM:619164
HP:0011839	Abnormal T cell count	5788	PTPRC	OMIM:619924
HP:0011839	Abnormal T cell count	5591	PRKDC	OMIM:615966
HP:0011839	Abnormal T cell count	79840	NHEJ1	ORPHA:169079
HP:0011839	Abnormal T cell count	54	ACP5	OMIM:607944
HP:0011839	Abnormal T cell count	4615	MYD88	OMIM:612260
HP:0011839	Abnormal T cell count	3431	SP110	ORPHA:79124
HP:0011839	Abnormal T cell count	1794	DOCK2	OMIM:616433
HP:0011839	Abnormal T cell count	2137	EXTL3	ORPHA:508533
HP:0011839	Abnormal T cell count	57724	EPG5	OMIM:242840
HP:0011839	Abnormal T cell count	7454	WAS	OMIM:301000
HP:0011839	Abnormal T cell count	84061	MAGT1	OMIM:300853
HP:0011839	Abnormal T cell count	10043	TOM1	OMIM:619510
HP:0011839	Abnormal T cell count	3702	ITK	OMIM:613011
HP:0011839	Abnormal T cell count	10625	IVNS1ABP	OMIM:618969
HP:0011839	Abnormal T cell count	3551	IKBKB	OMIM:618204
HP:0011839	Abnormal T cell count	3932	LCK	OMIM:615758
HP:0011839	Abnormal T cell count	54440	SASH3	OMIM:301082
HP:0011839	Abnormal T cell count	9094	UNC119	OMIM:615518
HP:0011839	Abnormal T cell count	4609	MYC	ORPHA:543
HP:0011839	Abnormal T cell count	3575	IL7R	ORPHA:169154
HP:0011839	Abnormal T cell count	81704	DOCK8	OMIM:243700
HP:0011839	Abnormal T cell count	56160	NSMCE3	OMIM:617241
HP:0011839	Abnormal T cell count	472	ATM	OMIM:208900
HP:0011839	Abnormal T cell count	3953	LEPR	ORPHA:179494
HP:0011839	Abnormal T cell count	3952	LEP	ORPHA:66628
HP:0011839	Abnormal T cell count	7456	WIPF1	OMIM:614493
HP:0011839	Abnormal T cell count	917	CD3G	OMIM:615607
HP:0011839	Abnormal T cell count	7535	ZAP70	OMIM:269840
HP:0011839	Abnormal T cell count	7535	ZAP70	ORPHA:911
HP:0011839	Abnormal T cell count	925	CD8A	OMIM:608957
HP:0011839	Abnormal T cell count	975	CD81	OMIM:613496
HP:0011839	Abnormal T cell count	59067	IL21	OMIM:615767
HP:0011839	Abnormal T cell count	695	BTK	OMIM:307200
HP:0011839	Abnormal T cell count	23495	TNFRSF13B	OMIM:240500
HP:0011839	Abnormal T cell count	115650	TNFRSF13C	OMIM:240500
HP:0011839	Abnormal T cell count	115650	TNFRSF13C	OMIM:613494
HP:0011839	Abnormal T cell count	1380	CR2	OMIM:240500
HP:0011839	Abnormal T cell count	29851	ICOS	OMIM:240500
HP:0011839	Abnormal T cell count	29851	ICOS	OMIM:607594
HP:0011839	Abnormal T cell count	930	CD19	OMIM:240500
HP:0011839	Abnormal T cell count	930	CD19	OMIM:613493
HP:0011839	Abnormal T cell count	51135	IRAK4	OMIM:607676
HP:0011839	Abnormal T cell count	331	XIAP	OMIM:308240
HP:0011839	Abnormal T cell count	4068	SH2D1A	OMIM:308240
HP:0011839	Abnormal T cell count	931	MS4A1	OMIM:613495
HP:0011839	Abnormal T cell count	84433	CARD11	OMIM:615206
HP:0011839	Abnormal T cell count	56259	CTNNBL1	OMIM:619846
HP:0011839	Abnormal T cell count	5294	PIK3CG	OMIM:619802
HP:0011839	Abnormal T cell count	5293	PIK3CD	ORPHA:221139
HP:0011839	Abnormal T cell count	90417	KNSTRN	ORPHA:221139
HP:0011839	Abnormal T cell count	3115	HLA-DPB1	ORPHA:133
HP:0011839	Abnormal T cell count	64170	CARD9	OMIM:212050
HP:0011839	Abnormal T cell count	355	FAS	ORPHA:3261
HP:0011839	Abnormal T cell count	356	FASLG	ORPHA:3261
HP:0011839	Abnormal T cell count	5580	PRKCD	ORPHA:3261
HP:0011839	Abnormal T cell count	843	CASP10	ORPHA:3261
HP:0011839	Abnormal T cell count	10125	RASGRP1	ORPHA:3261
HP:0011839	Abnormal T cell count	641	BLM	ORPHA:125
HP:0011839	Abnormal T cell count	5238	PGM3	ORPHA:443811
HP:0011839	Abnormal T cell count	5994	RFXAP	ORPHA:572
HP:0011839	Abnormal T cell count	4261	CIITA	ORPHA:572
HP:0011839	Abnormal T cell count	5993	RFX5	ORPHA:572
HP:0011839	Abnormal T cell count	8625	RFXANK	ORPHA:572
HP:0011839	Abnormal T cell count	9948	WDR1	OMIM:150550
HP:0011839	Abnormal T cell count	6850	SYK	OMIM:619381
HP:0011839	Abnormal T cell count	50943	FOXP3	ORPHA:37042
HP:0011839	Abnormal T cell count	399	RHOH	OMIM:618307
HP:0011839	Abnormal T cell count	3561	IL2RG	ORPHA:276
HP:0011839	Abnormal T cell count	64919	BCL11B	OMIM:617237
HP:0011839	Abnormal T cell count	64919	BCL11B	OMIM:618092
HP:0011839	Abnormal T cell count	5880	RAC2	OMIM:618986
HP:0011839	Abnormal T cell count	5880	RAC2	OMIM:618987
HP:0011839	Abnormal T cell count	5880	RAC2	OMIM:608203
HP:0011839	Abnormal T cell count	6117	RPA1	OMIM:619767
HP:0011839	Abnormal T cell count	79991	STN1	OMIM:617341
HP:0011839	Abnormal T cell count	8456	FOXN1	OMIM:618806
HP:0011839	Abnormal T cell count	64421	DCLRE1C	OMIM:602450
HP:0011839	Abnormal T cell count	3937	LCP2	OMIM:619374
HP:0011839	Abnormal T cell count	3071	NCKAP1L	OMIM:618982
HP:0011839	Abnormal T cell count	10159	ATP6AP2	OMIM:301045
HP:0011839	Abnormal T cell count	920	CD4	OMIM:619238
HP:0011839	Abnormal T cell count	90268	OTULIN	OMIM:617099
HP:0011839	Abnormal T cell count	51371	POMP	OMIM:618048
HP:0011839	Abnormal T cell count	2624	GATA2	OMIM:614038
HP:0011839	Abnormal T cell count	841	CASP8	OMIM:607271
HP:0011839	Abnormal T cell count	3559	IL2RA	OMIM:606367
HP:0011839	Abnormal T cell count	8546	AP3B1	OMIM:608233
HP:0011839	Abnormal T cell count	50619	DEF6	OMIM:619573
HP:0011839	Abnormal T cell count	3560	IL2RB	OMIM:618495
HP:0011839	Abnormal T cell count	4860	PNP	ORPHA:760
HP:0011839	Abnormal T cell count	5896	RAG1	ORPHA:331206
HP:0011839	Abnormal T cell count	5897	RAG2	ORPHA:331206
HP:0011839	Abnormal T cell count	916	CD3E	OMIM:615615
HP:0011839	Abnormal T cell count	916	CD3E	ORPHA:169160
HP:0011839	Abnormal T cell count	915	CD3D	ORPHA:169160
HP:0011839	Abnormal T cell count	919	CD247	ORPHA:169160
HP:0011839	Abnormal T cell count	56244	BTNL2	ORPHA:797
HP:0011839	Abnormal T cell count	3123	HLA-DRB1	ORPHA:797
HP:0011839	Abnormal T cell count	50485	SMARCAL1	ORPHA:1830
HP:0011839	Abnormal T cell count	5295	PIK3R1	OMIM:616005
HP:0011839	Abnormal T cell count	8915	BCL10	OMIM:616098
HP:0011839	Abnormal T cell count	6929	TCF3	OMIM:619824
HP:0011839	Abnormal T cell count	27040	LAT	OMIM:617514
HP:0011839	Abnormal T cell count	3978	LIG1	OMIM:619774
HP:0011839	Abnormal T cell count	1503	CTPS1	OMIM:615897
HP:0001621	Weak voice	9829	DNAJC6	ORPHA:391411
HP:0001621	Weak voice	5420	PODXL	ORPHA:391411
HP:0001621	Weak voice	8867	SYNJ1	ORPHA:391411
HP:0001621	Weak voice	8867	SYNJ1	OMIM:615530
HP:0001621	Weak voice	2617	GARS1	OMIM:619042
HP:0001621	Weak voice	2512	FTL	ORPHA:157846
HP:0001621	Weak voice	7084	TK2	ORPHA:254886
HP:0001621	Weak voice	5428	POLG	ORPHA:254886
HP:0001621	Weak voice	84909	AOPEP	OMIM:619565
HP:0001621	Weak voice	127833	SYT2	OMIM:619461
HP:0001621	Weak voice	4137	MAPT	ORPHA:240094
HP:0001621	Weak voice	4137	MAPT	OMIM:168600
HP:0001621	Weak voice	4591	TRIM37	OMIM:253250
HP:0001621	Weak voice	2747	GLUD2	OMIM:168600
HP:0001621	Weak voice	126	ADH1C	OMIM:168600
HP:0001621	Weak voice	2629	GBA1	OMIM:168600
HP:0001621	Weak voice	4929	NR4A2	OMIM:168600
HP:0001621	Weak voice	6908	TBP	OMIM:168600
HP:0001621	Weak voice	4576	MT-TT	OMIM:168600
HP:0001621	Weak voice	9627	SNCAIP	OMIM:168600
HP:0001621	Weak voice	6311	ATXN2	OMIM:168600
HP:0001621	Weak voice	6315	ATXN8OS	OMIM:168600
HP:0001621	Weak voice	3339	HSPG2	OMIM:255800
HP:0001621	Weak voice	3339	HSPG2	ORPHA:800
HP:0001621	Weak voice	113278	SLC52A3	OMIM:211530
HP:0001621	Weak voice	4796	TONSL	ORPHA:93357
HP:0001621	Weak voice	9782	MATR3	ORPHA:600
HP:0001621	Weak voice	10159	ATP6AP2	ORPHA:93952
HP:0001621	Weak voice	2273	FHL1	OMIM:300280
HP:0001621	Weak voice	1639	DCTN1	OMIM:168605
HP:0001622	Premature birth	4693	NDP	ORPHA:90050
HP:0001622	Premature birth	4041	LRP5	ORPHA:90050
HP:0001622	Premature birth	8322	FZD4	ORPHA:90050
HP:0001622	Premature birth	5076	PAX2	ORPHA:97362
HP:0001622	Premature birth	5087	PBX1	ORPHA:97362
HP:0001622	Premature birth	6134	RPL10	OMIM:300998
HP:0001622	Premature birth	10262	SF3B4	OMIM:154400
HP:0001622	Premature birth	23019	CNOT1	OMIM:619033
HP:0001622	Premature birth	56203	LMOD3	OMIM:616165
HP:0001622	Premature birth	56203	LMOD3	ORPHA:171430
HP:0001622	Premature birth	673	BRAF	OMIM:115150
HP:0001622	Premature birth	673	BRAF	ORPHA:1340
HP:0001622	Premature birth	55627	SMPD4	OMIM:618622
HP:0001622	Premature birth	4625	MYH7	ORPHA:1880
HP:0001622	Premature birth	2720	GLB1	OMIM:230600
HP:0001622	Premature birth	5745	PTH1R	OMIM:215045
HP:0001622	Premature birth	5745	PTH1R	ORPHA:50945
HP:0001622	Premature birth	2629	GBA1	OMIM:608013
HP:0001622	Premature birth	10999	SLC27A4	OMIM:608649
HP:0001622	Premature birth	10999	SLC27A4	ORPHA:88621
HP:0001622	Premature birth	58	ACTA1	ORPHA:171433
HP:0001622	Premature birth	58	ACTA1	ORPHA:171430
HP:0001622	Premature birth	4703	NEB	ORPHA:171433
HP:0001622	Premature birth	4703	NEB	ORPHA:171430
HP:0001622	Premature birth	10324	KLHL41	ORPHA:171433
HP:0001622	Premature birth	10324	KLHL41	ORPHA:171430
HP:0001622	Premature birth	7170	TPM3	ORPHA:171433
HP:0001622	Premature birth	613	BCR	ORPHA:261330
HP:0001622	Premature birth	1399	CRKL	ORPHA:261330
HP:0001622	Premature birth	5594	MAPK1	ORPHA:261330
HP:0001622	Premature birth	131377	KLHL40	ORPHA:171430
HP:0001622	Premature birth	55163	PNPO	ORPHA:79096
HP:0001622	Premature birth	55163	PNPO	OMIM:610090
HP:0001622	Premature birth	3508	IGHMBP2	OMIM:604320
HP:0001622	Premature birth	284403	WDR62	OMIM:604317
HP:0001622	Premature birth	2260	FGFR1	ORPHA:280200
HP:0001622	Premature birth	28514	DLL1	ORPHA:280200
HP:0001622	Premature birth	2253	FGF8	ORPHA:280200
HP:0001622	Premature birth	6496	SIX3	ORPHA:280200
HP:0001622	Premature birth	7050	TGIF1	ORPHA:280200
HP:0001622	Premature birth	4838	NODAL	ORPHA:280200
HP:0001622	Premature birth	6469	SHH	ORPHA:280200
HP:0001622	Premature birth	51684	SUFU	ORPHA:280200
HP:0001622	Premature birth	7546	ZIC2	ORPHA:280200
HP:0001622	Premature birth	2619	GAS1	ORPHA:280200
HP:0001622	Premature birth	84976	DISP1	ORPHA:280200
HP:0001622	Premature birth	2736	GLI2	ORPHA:280200
HP:0001622	Premature birth	8928	FOXH1	ORPHA:280200
HP:0001622	Premature birth	5727	PTCH1	ORPHA:280200
HP:0001622	Premature birth	50937	CDON	ORPHA:280200
HP:0001622	Premature birth	1725	DHPS	OMIM:618480
HP:0001622	Premature birth	10916	MAGED2	OMIM:300971
HP:0001622	Premature birth	54539	NDUFB11	OMIM:301021
HP:0001622	Premature birth	4709	NDUFB3	OMIM:618246
HP:0001622	Premature birth	1272	CNTN1	OMIM:612540
HP:0001622	Premature birth	10352	WARS2	OMIM:619738
HP:0001622	Premature birth	9968	MED12	ORPHA:93932
HP:0001622	Premature birth	6773	STAT2	OMIM:618886
HP:0001622	Premature birth	6499	SKIC2	OMIM:614602
HP:0001622	Premature birth	51008	ASCC1	OMIM:616867
HP:0001622	Premature birth	5604	MAP2K1	ORPHA:1340
HP:0001622	Premature birth	5605	MAP2K2	ORPHA:1340
HP:0001622	Premature birth	3845	KRAS	ORPHA:1340
HP:0001622	Premature birth	1277	COL1A1	OMIM:166210
HP:0001622	Premature birth	1277	COL1A1	ORPHA:287
HP:0001622	Premature birth	1278	COL1A2	OMIM:166210
HP:0001622	Premature birth	9325	TRIP4	OMIM:616866
HP:0001622	Premature birth	2317	FLNB	OMIM:108720
HP:0001622	Premature birth	1290	COL5A2	ORPHA:287
HP:0001622	Premature birth	1717	DHCR7	OMIM:270400
HP:0001622	Premature birth	1583	CYP11A1	ORPHA:289548
HP:0001622	Premature birth	1583	CYP11A1	ORPHA:168558
HP:0001622	Premature birth	6557	SLC12A1	OMIM:601678
HP:0001622	Premature birth	7809	BSND	OMIM:602522
HP:0001622	Premature birth	7809	BSND	ORPHA:89938
HP:0001622	Premature birth	1760	DMPK	ORPHA:589821
HP:0001622	Premature birth	9509	ADAMTS2	OMIM:225410
HP:0001622	Premature birth	54968	TMEM70	OMIM:614052
HP:0001622	Premature birth	3758	KCNJ1	OMIM:241200
HP:0001622	Premature birth	5244	ABCB4	OMIM:614972
HP:0001622	Premature birth	5244	ABCB4	ORPHA:69665
HP:0001622	Premature birth	7253	TSHR	OMIM:609152
HP:0001622	Premature birth	114548	NLRP3	ORPHA:1451
HP:0001622	Premature birth	6304	SATB1	OMIM:619229
HP:0001622	Premature birth	3265	HRAS	OMIM:218040
HP:0001622	Premature birth	2200	FBN1	OMIM:616914
HP:0001622	Premature birth	2313	FLI1	ORPHA:2308
HP:0001622	Premature birth	2584	GALK1	ORPHA:79237
HP:0001622	Premature birth	4534	MTM1	ORPHA:596
HP:0001622	Premature birth	4534	MTM1	OMIM:310400
HP:0001622	Premature birth	23476	BRD4	ORPHA:199
HP:0001622	Premature birth	9126	SMC3	ORPHA:199
HP:0001622	Premature birth	8243	SMC1A	ORPHA:199
HP:0001622	Premature birth	25836	NIPBL	ORPHA:199
HP:0001622	Premature birth	55869	HDAC8	ORPHA:199
HP:0001622	Premature birth	5885	RAD21	ORPHA:199
HP:0001622	Premature birth	26154	ABCA12	OMIM:242500
HP:0001622	Premature birth	1188	CLCNKB	ORPHA:89938
HP:0001622	Premature birth	1188	CLCNKB	OMIM:613090
HP:0001622	Premature birth	1187	CLCNKA	ORPHA:89938
HP:0001622	Premature birth	1187	CLCNKA	OMIM:613090
HP:0001622	Premature birth	1186	CLCN7	OMIM:618541
HP:0001622	Premature birth	57003	CCDC47	OMIM:618268
HP:0001622	Premature birth	57187	THOC2	OMIM:300957
HP:0001622	Premature birth	4593	MUSK	OMIM:208150
HP:0001622	Premature birth	9255	AIMP1	OMIM:260600
HP:0001622	Premature birth	3043	HBB	ORPHA:2133
HP:0001622	Premature birth	157570	ESCO2	ORPHA:3103
HP:0001622	Premature birth	388015	RTL1	ORPHA:96184
HP:0001622	Premature birth	388015	RTL1	ORPHA:96334
HP:0001622	Premature birth	8788	DLK1	ORPHA:96184
HP:0001622	Premature birth	8788	DLK1	ORPHA:96334
HP:0001622	Premature birth	55384	MEG3	ORPHA:96184
HP:0001622	Premature birth	55384	MEG3	ORPHA:96334
HP:0001622	Premature birth	5054	SERPINE1	ORPHA:465
HP:0001622	Premature birth	213	ALB	ORPHA:86816
HP:0001622	Premature birth	374879	ZNF699	OMIM:619488
HP:0001622	Premature birth	9276	COPB2	OMIM:619884
HP:0001622	Premature birth	253959	RALGAPA1	OMIM:618797
HP:0001622	Premature birth	2232	FDXR	ORPHA:543470
HP:0001622	Premature birth	100151683	RNU4ATAC	OMIM:616651
HP:0001622	Premature birth	100151683	RNU4ATAC	ORPHA:2636
HP:0001622	Premature birth	55640	FLVCR2	OMIM:225790
HP:0001622	Premature birth	5205	ATP8B1	ORPHA:69665
HP:0001622	Premature birth	5205	ATP8B1	OMIM:147480
HP:0001622	Premature birth	8647	ABCB11	ORPHA:69665
HP:0001622	Premature birth	9971	NR1H4	ORPHA:69665
HP:0001622	Premature birth	55278	QRSL1	OMIM:618835
HP:0001622	Premature birth	50485	SMARCAL1	ORPHA:1830
HP:0001622	Premature birth	92335	STRADA	OMIM:611087
HP:0001622	Premature birth	5188	GATB	OMIM:618838
HP:0001622	Premature birth	1811	SLC26A3	OMIM:214700
HP:0001622	Premature birth	2683	B4GALT1	ORPHA:79332
HP:0001622	Premature birth	283459	GATC	OMIM:618839
HP:0001622	Premature birth	3516	RBPJ	ORPHA:974
HP:0001622	Premature birth	4851	NOTCH1	ORPHA:974
HP:0001622	Premature birth	57514	ARHGAP31	ORPHA:974
HP:0001622	Premature birth	57572	DOCK6	ORPHA:974
HP:0001622	Premature birth	285203	EOGT	ORPHA:974
HP:0001622	Premature birth	54567	DLL4	ORPHA:974
HP:0001622	Premature birth	1301	COL11A1	ORPHA:440354
HP:0001622	Premature birth	197258	FCSK	OMIM:618324
HP:0001622	Premature birth	26503	SLC17A5	OMIM:269920
HP:0001622	Premature birth	8565	YARS1	OMIM:619418
HP:0001622	Premature birth	51294	PCDH12	OMIM:251280
HP:0001622	Premature birth	79087	ALG12	ORPHA:79324
HP:0001622	Premature birth	6223	RPS19	OMIM:105650
HP:0001622	Premature birth	79053	ALG8	ORPHA:79325
HP:0001622	Premature birth	3239	HOXD13	ORPHA:887
HP:0001622	Premature birth	286204	CRB2	OMIM:219730
HP:0001622	Premature birth	9896	FIG4	OMIM:216340
HP:0001622	Premature birth	6567	SLC16A2	ORPHA:59
HP:0001622	Premature birth	219844	HYLS1	ORPHA:2189
HP:0001622	Premature birth	374654	KIF7	ORPHA:2189
HP:0001622	Premature birth	7407	VARS1	OMIM:617802
HP:0001622	Premature birth	51002	TPRKB	ORPHA:2065
HP:0001622	Premature birth	84942	WDR73	ORPHA:2065
HP:0001622	Premature birth	55644	OSGEP	ORPHA:2065
HP:0001622	Premature birth	57122	NUP107	ORPHA:2065
HP:0001622	Premature birth	10785	WDR4	ORPHA:2065
HP:0001622	Premature birth	55746	NUP133	ORPHA:2065
HP:0001622	Premature birth	112858	TP53RK	ORPHA:2065
HP:0001622	Premature birth	8270	LAGE3	ORPHA:2065
HP:0001622	Premature birth	55670	PEX26	ORPHA:912
HP:0001622	Premature birth	5824	PEX19	ORPHA:912
HP:0001622	Premature birth	5828	PEX2	ORPHA:912
HP:0001622	Premature birth	8504	PEX3	ORPHA:912
HP:0001622	Premature birth	8799	PEX11B	ORPHA:912
HP:0001622	Premature birth	9409	PEX16	ORPHA:912
HP:0001622	Premature birth	5190	PEX6	ORPHA:912
HP:0001622	Premature birth	5830	PEX5	ORPHA:912
HP:0001622	Premature birth	5189	PEX1	ORPHA:912
HP:0001622	Premature birth	5193	PEX12	ORPHA:912
HP:0001622	Premature birth	5194	PEX13	ORPHA:912
HP:0001622	Premature birth	5195	PEX14	ORPHA:912
HP:0001622	Premature birth	5192	PEX10	ORPHA:912
HP:0001622	Premature birth	54938	SARS2	OMIM:613845
HP:0001622	Premature birth	6440	SFTPC	ORPHA:70587
HP:0001622	Premature birth	21	ABCA3	ORPHA:70587
HP:0001622	Premature birth	6439	SFTPB	ORPHA:70587
HP:0001622	Premature birth	64858	DCLRE1B	OMIM:620133
HP:0001622	Premature birth	4054	LTBP3	OMIM:617809
HP:0001622	Premature birth	1289	COL5A1	OMIM:130000
HP:0001622	Premature birth	1281	COL3A1	OMIM:130050
HP:0001622	Premature birth	4000	LMNA	ORPHA:1662
HP:0001622	Premature birth	10269	ZMPSTE24	ORPHA:1662
HP:0001623	Breech presentation	2261	FGFR3	OMIM:187600
HP:0001623	Breech presentation	2261	FGFR3	OMIM:616482
HP:0001623	Breech presentation	95	ACY1	OMIM:609924
HP:0001623	Breech presentation	1836	SLC26A2	OMIM:600972
HP:0001623	Breech presentation	4621	MYH3	OMIM:193700
HP:0001623	Breech presentation	5447	POR	OMIM:201750
HP:0001623	Breech presentation	51422	PRKAG2	OMIM:261740
HP:0001623	Breech presentation	3190	HNRNPK	OMIM:616580
HP:0001623	Breech presentation	55870	ASH1L	OMIM:617796
HP:0001623	Breech presentation	4998	ORC1	OMIM:224690
HP:0001623	Breech presentation	56203	LMOD3	OMIM:616165
HP:0001623	Breech presentation	56203	LMOD3	ORPHA:171430
HP:0001623	Breech presentation	51780	KDM3B	OMIM:618846
HP:0001623	Breech presentation	9469	CHST3	OMIM:143095
HP:0001623	Breech presentation	10324	KLHL41	OMIM:615731
HP:0001623	Breech presentation	10324	KLHL41	ORPHA:171439
HP:0001623	Breech presentation	10324	KLHL41	ORPHA:171430
HP:0001623	Breech presentation	55699	IARS2	OMIM:616007
HP:0001623	Breech presentation	8425	LTBP4	OMIM:613177
HP:0001623	Breech presentation	100151683	RNU4ATAC	OMIM:210710
HP:0001623	Breech presentation	6023	RMRP	OMIM:250250
HP:0001623	Breech presentation	10491	CRTAP	OMIM:610682
HP:0001623	Breech presentation	84665	MYPN	ORPHA:171439
HP:0001623	Breech presentation	58	ACTA1	ORPHA:171439
HP:0001623	Breech presentation	58	ACTA1	ORPHA:171430
HP:0001623	Breech presentation	7169	TPM2	ORPHA:171439
HP:0001623	Breech presentation	390594	KBTBD13	ORPHA:171439
HP:0001623	Breech presentation	4703	NEB	ORPHA:171439
HP:0001623	Breech presentation	4703	NEB	ORPHA:171430
HP:0001623	Breech presentation	7170	TPM3	ORPHA:171439
HP:0001623	Breech presentation	55681	SCYL2	ORPHA:1143
HP:0001623	Breech presentation	84570	COL25A1	ORPHA:1143
HP:0001623	Breech presentation	57222	ERGIC1	ORPHA:1143
HP:0001623	Breech presentation	1073	CFL2	OMIM:610687
HP:0001623	Breech presentation	7681	MKRN3	OMIM:176270
HP:0001623	Breech presentation	3653	IPW	OMIM:176270
HP:0001623	Breech presentation	54551	MAGEL2	OMIM:176270
HP:0001623	Breech presentation	791114	PWRN1	OMIM:176270
HP:0001623	Breech presentation	100033413	SNORD116-1	OMIM:176270
HP:0001623	Breech presentation	8924	HERC2	OMIM:176270
HP:0001623	Breech presentation	145624	PWAR1	OMIM:176270
HP:0001623	Breech presentation	23742	NPAP1	OMIM:176270
HP:0001623	Breech presentation	338433	SNORD115-1	OMIM:176270
HP:0001623	Breech presentation	1717	DHCR7	OMIM:270400
HP:0001623	Breech presentation	1277	COL1A1	OMIM:130060
HP:0001623	Breech presentation	6261	RYR1	OMIM:619542
HP:0001623	Breech presentation	374879	ZNF699	OMIM:619488
HP:0001623	Breech presentation	54903	MKS1	OMIM:249000
HP:0001623	Breech presentation	6651	SON	OMIM:617140
HP:0001623	Breech presentation	80816	ASXL3	OMIM:615485
HP:0001623	Breech presentation	25930	PTPN23	OMIM:618890
HP:0001623	Breech presentation	5277	PIGA	OMIM:300868
HP:0001623	Breech presentation	131377	KLHL40	ORPHA:171430
HP:0001623	Breech presentation	667	DST	OMIM:614653
HP:0001623	Breech presentation	1841	DTYMK	OMIM:619847
HP:0001623	Breech presentation	1278	COL1A2	OMIM:617821
HP:0001623	Breech presentation	4976	OPA1	OMIM:616896
HP:0001623	Breech presentation	84300	UQCC2	OMIM:615824
HP:0001623	Breech presentation	7407	VARS1	OMIM:617802
HP:0001623	Breech presentation	23729	SHPK	ORPHA:440713
HP:0001623	Breech presentation	9200	HACD1	OMIM:619967
HP:0001623	Breech presentation	5189	PEX1	OMIM:214100
HP:0001626	Abnormality of the cardiovascular system	246329	STAC3	ORPHA:168572
HP:0001626	Abnormality of the cardiovascular system	55129	ANO10	ORPHA:284289
HP:0001626	Abnormality of the cardiovascular system	55129	ANO10	OMIM:613728
HP:0001626	Abnormality of the cardiovascular system	8675	STX16	ORPHA:94089
HP:0001626	Abnormality of the cardiovascular system	2067	ERCC1	ORPHA:90322
HP:0001626	Abnormality of the cardiovascular system	3507	IGHM	OMIM:601495
HP:0001626	Abnormality of the cardiovascular system	3507	IGHM	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	4312	MMP1	OMIM:226600
HP:0001626	Abnormality of the cardiovascular system	162	AP1B1	OMIM:242150
HP:0001626	Abnormality of the cardiovascular system	5075	PAX1	OMIM:615560
HP:0001626	Abnormality of the cardiovascular system	974	CD79B	OMIM:612692
HP:0001626	Abnormality of the cardiovascular system	974	CD79B	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	7086	TKT	ORPHA:488618
HP:0001626	Abnormality of the cardiovascular system	7037	TFRC	OMIM:616740
HP:0001626	Abnormality of the cardiovascular system	7994	KAT6A	OMIM:616268
HP:0001626	Abnormality of the cardiovascular system	2077	ERF	ORPHA:207
HP:0001626	Abnormality of the cardiovascular system	3321	IGSF3	OMIM:149700
HP:0001626	Abnormality of the cardiovascular system	973	CD79A	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	3543	IGLL1	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	29760	BLNK	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	56262	LRRC8A	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	3978	LIG1	OMIM:619774
HP:0001626	Abnormality of the cardiovascular system	23328	SASH1	OMIM:618373
HP:0001626	Abnormality of the cardiovascular system	4683	NBN	OMIM:251260
HP:0001626	Abnormality of the cardiovascular system	5648	MASP1	OMIM:257920
HP:0001626	Abnormality of the cardiovascular system	23064	SETX	OMIM:606002
HP:0001626	Abnormality of the cardiovascular system	5190	PEX6	ORPHA:95433
HP:0001626	Abnormality of the cardiovascular system	344	APOC2	OMIM:207750
HP:0001626	Abnormality of the cardiovascular system	338328	GPIHBP1	OMIM:615947
HP:0001626	Abnormality of the cardiovascular system	56160	NSMCE3	OMIM:617241
HP:0001626	Abnormality of the cardiovascular system	51726	DNAJB11	OMIM:618061
HP:0001626	Abnormality of the cardiovascular system	51726	DNAJB11	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	63036	CELA2A	OMIM:618620
HP:0001626	Abnormality of the cardiovascular system	54507	ADAMTSL4	ORPHA:1885
HP:0001626	Abnormality of the cardiovascular system	8518	ELP1	ORPHA:1764
HP:0001626	Abnormality of the cardiovascular system	8518	ELP1	OMIM:223900
HP:0001626	Abnormality of the cardiovascular system	63924	CIDEC	OMIM:615238
HP:0001626	Abnormality of the cardiovascular system	81839	VANGL1	ORPHA:3027
HP:0001626	Abnormality of the cardiovascular system	80199	FUZ	ORPHA:3027
HP:0001626	Abnormality of the cardiovascular system	23607	CD2AP	OMIM:607832
HP:0001626	Abnormality of the cardiovascular system	3162	HMOX1	OMIM:614034
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	OMIM:202010
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	ORPHA:90795
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	ORPHA:403
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	OMIM:103900
HP:0001626	Abnormality of the cardiovascular system	4552	MTRR	ORPHA:2169
HP:0001626	Abnormality of the cardiovascular system	50940	PDE11A	OMIM:610475
HP:0001626	Abnormality of the cardiovascular system	50940	PDE11A	ORPHA:189439
HP:0001626	Abnormality of the cardiovascular system	50940	PDE11A	ORPHA:1359
HP:0001626	Abnormality of the cardiovascular system	23592	LEMD3	ORPHA:1879
HP:0001626	Abnormality of the cardiovascular system	23592	LEMD3	ORPHA:1306
HP:0001626	Abnormality of the cardiovascular system	1586	CYP17A1	ORPHA:90793
HP:0001626	Abnormality of the cardiovascular system	1586	CYP17A1	OMIM:202110
HP:0001626	Abnormality of the cardiovascular system	23193	GANAB	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	23193	GANAB	OMIM:600666
HP:0001626	Abnormality of the cardiovascular system	5311	PKD2	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	5311	PKD2	OMIM:613095
HP:0001626	Abnormality of the cardiovascular system	29880	ALG5	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	29880	ALG5	OMIM:620056
HP:0001626	Abnormality of the cardiovascular system	9742	IFT140	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	9742	IFT140	OMIM:266920
HP:0001626	Abnormality of the cardiovascular system	80114	BICC1	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	3766	KCNJ10	OMIM:612780
HP:0001626	Abnormality of the cardiovascular system	2538	G6PC1	OMIM:232200
HP:0001626	Abnormality of the cardiovascular system	284252	KCTD1	ORPHA:2036
HP:0001626	Abnormality of the cardiovascular system	284252	KCTD1	OMIM:181270
HP:0001626	Abnormality of the cardiovascular system	6773	STAT2	OMIM:618886
HP:0001626	Abnormality of the cardiovascular system	5468	PPARG	ORPHA:79083
HP:0001626	Abnormality of the cardiovascular system	5468	PPARG	OMIM:604367
HP:0001626	Abnormality of the cardiovascular system	5346	PLIN1	OMIM:613877
HP:0001626	Abnormality of the cardiovascular system	5346	PLIN1	ORPHA:280356
HP:0001626	Abnormality of the cardiovascular system	79184	BRCC3	ORPHA:280679
HP:0001626	Abnormality of the cardiovascular system	2332	FMR1	ORPHA:93256
HP:0001626	Abnormality of the cardiovascular system	2332	FMR1	ORPHA:449291
HP:0001626	Abnormality of the cardiovascular system	1181	CLCN2	OMIM:605635
HP:0001626	Abnormality of the cardiovascular system	1181	CLCN2	ORPHA:404
HP:0001626	Abnormality of the cardiovascular system	5139	PDE3A	OMIM:112410
HP:0001626	Abnormality of the cardiovascular system	5139	PDE3A	ORPHA:1276
HP:0001626	Abnormality of the cardiovascular system	54968	TMEM70	OMIM:614052
HP:0001626	Abnormality of the cardiovascular system	9860	LRIG2	ORPHA:2704
HP:0001626	Abnormality of the cardiovascular system	60495	HPSE2	ORPHA:2704
HP:0001626	Abnormality of the cardiovascular system	84984	CEP19	OMIM:615703
HP:0001626	Abnormality of the cardiovascular system	84984	CEP19	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	4582	MUC1	OMIM:174000
HP:0001626	Abnormality of the cardiovascular system	54	ACP5	ORPHA:1855
HP:0001626	Abnormality of the cardiovascular system	4069	LYZ	OMIM:105200
HP:0001626	Abnormality of the cardiovascular system	335	APOA1	OMIM:105200
HP:0001626	Abnormality of the cardiovascular system	567	B2M	OMIM:105200
HP:0001626	Abnormality of the cardiovascular system	10019	SH2B3	OMIM:133100
HP:0001626	Abnormality of the cardiovascular system	2057	EPOR	OMIM:133100
HP:0001626	Abnormality of the cardiovascular system	92482	BBIP1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	80184	CEP290	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	80184	CEP290	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	11020	IFT27	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	49855	SCAPER	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	4867	NPHP1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	4867	NPHP1	OMIM:256100
HP:0001626	Abnormality of the cardiovascular system	4867	NPHP1	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	51057	WDPCP	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	27241	BBS9	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	22954	TRIM32	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	79738	BBS10	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	123016	TTC8	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	583	BBS2	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	585	BBS4	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	8195	MKKS	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	54585	LZTFL1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	55212	BBS7	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	166379	BBS12	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	10806	SDCCAG8	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	10806	SDCCAG8	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	157657	CFAP418	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	129880	BBS5	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	80173	IFT74	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	7809	BSND	ORPHA:89938
HP:0001626	Abnormality of the cardiovascular system	1187	CLCNKA	ORPHA:89938
HP:0001626	Abnormality of the cardiovascular system	8622	PDE8B	ORPHA:189439
HP:0001626	Abnormality of the cardiovascular system	79798	ARMC5	OMIM:615954
HP:0001626	Abnormality of the cardiovascular system	79798	ARMC5	ORPHA:189427
HP:0001626	Abnormality of the cardiovascular system	8364	H4C3	OMIM:619758
HP:0001626	Abnormality of the cardiovascular system	4556	MT-TE	ORPHA:225
HP:0001626	Abnormality of the cardiovascular system	4040	LRP6	OMIM:610947
HP:0001626	Abnormality of the cardiovascular system	5244	ABCB4	ORPHA:69663
HP:0001626	Abnormality of the cardiovascular system	2908	NR3C1	OMIM:615962
HP:0001626	Abnormality of the cardiovascular system	2908	NR3C1	ORPHA:786
HP:0001626	Abnormality of the cardiovascular system	2908	NR3C1	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	4982	TNFRSF11B	ORPHA:2801
HP:0001626	Abnormality of the cardiovascular system	8792	TNFRSF11A	ORPHA:2801
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	ORPHA:189427
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	ORPHA:79443
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	OMIM:219080
HP:0001626	Abnormality of the cardiovascular system	866	SERPINA6	OMIM:611489
HP:0001626	Abnormality of the cardiovascular system	10253	SPRY2	OMIM:616818
HP:0001626	Abnormality of the cardiovascular system	4205	MEF2A	OMIM:608320
HP:0001626	Abnormality of the cardiovascular system	38	ACAT1	ORPHA:134
HP:0001626	Abnormality of the cardiovascular system	7355	SLC35A2	OMIM:300896
HP:0001626	Abnormality of the cardiovascular system	4193	MDM2	OMIM:618681
HP:0001626	Abnormality of the cardiovascular system	3991	LIPE	OMIM:615980
HP:0001626	Abnormality of the cardiovascular system	667	DST	OMIM:614653
HP:0001626	Abnormality of the cardiovascular system	51134	CEP83	OMIM:615862
HP:0001626	Abnormality of the cardiovascular system	5076	PAX2	ORPHA:97362
HP:0001626	Abnormality of the cardiovascular system	5076	PAX2	OMIM:120330
HP:0001626	Abnormality of the cardiovascular system	5087	PBX1	ORPHA:97362
HP:0001626	Abnormality of the cardiovascular system	2982	GUCY1A1	OMIM:615750
HP:0001626	Abnormality of the cardiovascular system	2982	GUCY1A1	ORPHA:401945
HP:0001626	Abnormality of the cardiovascular system	4160	MC4R	ORPHA:71529
HP:0001626	Abnormality of the cardiovascular system	65062	TMEM237	OMIM:614424
HP:0001626	Abnormality of the cardiovascular system	4179	CD46	OMIM:612922
HP:0001626	Abnormality of the cardiovascular system	629	CFB	OMIM:612924
HP:0001626	Abnormality of the cardiovascular system	10058	ABCB6	ORPHA:90044
HP:0001626	Abnormality of the cardiovascular system	718	C3	OMIM:612925
HP:0001626	Abnormality of the cardiovascular system	91147	TMEM67	OMIM:216360
HP:0001626	Abnormality of the cardiovascular system	91147	TMEM67	ORPHA:84081
HP:0001626	Abnormality of the cardiovascular system	6340	SCNN1G	OMIM:618114
HP:0001626	Abnormality of the cardiovascular system	6340	SCNN1G	ORPHA:526
HP:0001626	Abnormality of the cardiovascular system	137682	NDUFAF6	OMIM:618913
HP:0001626	Abnormality of the cardiovascular system	8912	CACNA1H	OMIM:617027
HP:0001626	Abnormality of the cardiovascular system	1287	COL4A5	OMIM:301050
HP:0001626	Abnormality of the cardiovascular system	5978	REST	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	9319	TRIP13	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	10155	TRIM28	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	11281	POU6F2	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	283120	H19	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	84196	USP48	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	9101	USP8	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	9101	USP8	OMIM:219090
HP:0001626	Abnormality of the cardiovascular system	64423	INF2	OMIM:613237
HP:0001626	Abnormality of the cardiovascular system	4306	NR3C2	OMIM:605115
HP:0001626	Abnormality of the cardiovascular system	5498	PPOX	ORPHA:79473
HP:0001626	Abnormality of the cardiovascular system	55644	OSGEP	OMIM:617729
HP:0001626	Abnormality of the cardiovascular system	2328	FMO3	OMIM:602079
HP:0001626	Abnormality of the cardiovascular system	1589	CYP21A2	OMIM:201910
HP:0001626	Abnormality of the cardiovascular system	7225	TRPC6	OMIM:603965
HP:0001626	Abnormality of the cardiovascular system	6338	SCNN1B	OMIM:177200
HP:0001626	Abnormality of the cardiovascular system	6338	SCNN1B	ORPHA:526
HP:0001626	Abnormality of the cardiovascular system	57545	CC2D2A	OMIM:619111
HP:0001626	Abnormality of the cardiovascular system	2643	GCH1	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	4929	NR4A2	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	3615	IMPDH2	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	1285	COL4A3	OMIM:203780
HP:0001626	Abnormality of the cardiovascular system	1285	COL4A3	OMIM:104200
HP:0001626	Abnormality of the cardiovascular system	1286	COL4A4	OMIM:203780
HP:0001626	Abnormality of the cardiovascular system	54796	BNC2	ORPHA:93110
HP:0001626	Abnormality of the cardiovascular system	2335	FN1	ORPHA:84090
HP:0001626	Abnormality of the cardiovascular system	2335	FN1	OMIM:601894
HP:0001626	Abnormality of the cardiovascular system	79783	SUGCT	OMIM:231690
HP:0001626	Abnormality of the cardiovascular system	51317	PHF21A	ORPHA:52022
HP:0001626	Abnormality of the cardiovascular system	81	ACTN4	OMIM:603278
HP:0001626	Abnormality of the cardiovascular system	60401	EDA2R	ORPHA:181
HP:0001626	Abnormality of the cardiovascular system	1896	EDA	ORPHA:181
HP:0001626	Abnormality of the cardiovascular system	51473	DCDC2	ORPHA:84081
HP:0001626	Abnormality of the cardiovascular system	3145	HMBS	OMIM:176000
HP:0001626	Abnormality of the cardiovascular system	3145	HMBS	ORPHA:79276
HP:0001626	Abnormality of the cardiovascular system	63929	XPNPEP3	OMIM:613159
HP:0001626	Abnormality of the cardiovascular system	1371	CPOX	OMIM:121300
HP:0001626	Abnormality of the cardiovascular system	1585	CYP11B2	ORPHA:403
HP:0001626	Abnormality of the cardiovascular system	65266	WNK4	OMIM:614491
HP:0001626	Abnormality of the cardiovascular system	65125	WNK1	OMIM:614492
HP:0001626	Abnormality of the cardiovascular system	8516	ITGA8	OMIM:191830
HP:0001626	Abnormality of the cardiovascular system	23404	EXOSC2	OMIM:617763
HP:0001626	Abnormality of the cardiovascular system	26249	KLHL3	OMIM:614495
HP:0001626	Abnormality of the cardiovascular system	8452	CUL3	OMIM:614496
HP:0001626	Abnormality of the cardiovascular system	9935	MAFB	OMIM:166300
HP:0001626	Abnormality of the cardiovascular system	26146	TRAF3IP1	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	9657	IQCB1	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	261734	NPHP4	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	57728	WDR19	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	27031	NPHP3	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	22897	CEP164	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	10660	LBX1	OMIM:619483
HP:0001626	Abnormality of the cardiovascular system	55027	HEATR3	OMIM:620072
HP:0001626	Abnormality of the cardiovascular system	79068	FTO	OMIM:612938
HP:0001626	Abnormality of the cardiovascular system	1663	DDX11	OMIM:613398
HP:0001626	Abnormality of the cardiovascular system	10000	AKT3	OMIM:615937
HP:0001626	Abnormality of the cardiovascular system	51574	LARP7	ORPHA:319671
HP:0001626	Abnormality of the cardiovascular system	2533	FYB1	OMIM:273900
HP:0001626	Abnormality of the cardiovascular system	3937	LCP2	OMIM:619374
HP:0001626	Abnormality of the cardiovascular system	64858	DCLRE1B	OMIM:620133
HP:0001626	Abnormality of the cardiovascular system	54453	RIN2	ORPHA:217335
HP:0001626	Abnormality of the cardiovascular system	54453	RIN2	OMIM:613075
HP:0001626	Abnormality of the cardiovascular system	2120	ETV6	OMIM:616216
HP:0001626	Abnormality of the cardiovascular system	10235	RASGRP2	OMIM:615888
HP:0001626	Abnormality of the cardiovascular system	63915	BLOC1S5	OMIM:619172
HP:0001626	Abnormality of the cardiovascular system	90993	CREB3L1	OMIM:616229
HP:0001626	Abnormality of the cardiovascular system	4627	MYH9	OMIM:155100
HP:0001626	Abnormality of the cardiovascular system	4627	MYH9	ORPHA:182050
HP:0001626	Abnormality of the cardiovascular system	22852	ANKRD26	OMIM:188000
HP:0001626	Abnormality of the cardiovascular system	9509	ADAMTS2	OMIM:225410
HP:0001626	Abnormality of the cardiovascular system	11107	PRDM5	OMIM:614170
HP:0001626	Abnormality of the cardiovascular system	11107	PRDM5	ORPHA:90354
HP:0001626	Abnormality of the cardiovascular system	4507	MTAP	OMIM:112250
HP:0001626	Abnormality of the cardiovascular system	342618	SLFN14	OMIM:616913
HP:0001626	Abnormality of the cardiovascular system	89781	HPS4	OMIM:614073
HP:0001626	Abnormality of the cardiovascular system	11234	HPS5	OMIM:614074
HP:0001626	Abnormality of the cardiovascular system	84343	HPS3	OMIM:614072
HP:0001626	Abnormality of the cardiovascular system	388552	BLOC1S3	OMIM:614077
HP:0001626	Abnormality of the cardiovascular system	5594	MAPK1	OMIM:619087
HP:0001626	Abnormality of the cardiovascular system	200931	SLC51A	OMIM:619484
HP:0001626	Abnormality of the cardiovascular system	84062	DTNBP1	OMIM:614076
HP:0001626	Abnormality of the cardiovascular system	84627	ZNF469	ORPHA:90354
HP:0001626	Abnormality of the cardiovascular system	23387	SIK3	OMIM:618162
HP:0001626	Abnormality of the cardiovascular system	60681	FKBP10	OMIM:610968
HP:0001626	Abnormality of the cardiovascular system	7036	TFR2	OMIM:604250
HP:0001626	Abnormality of the cardiovascular system	9630	GNA14	ORPHA:1063
HP:0001626	Abnormality of the cardiovascular system	717	C2	OMIM:217000
HP:0001626	Abnormality of the cardiovascular system	3207	HOXA11	OMIM:605432
HP:0001626	Abnormality of the cardiovascular system	80036	TRPM3	OMIM:620224
HP:0001626	Abnormality of the cardiovascular system	11284	PNKP	ORPHA:459033
HP:0001626	Abnormality of the cardiovascular system	1729	DIAPH1	ORPHA:2573
HP:0001626	Abnormality of the cardiovascular system	57674	RNF213	ORPHA:2573
HP:0001626	Abnormality of the cardiovascular system	1294	COL7A1	ORPHA:158673
HP:0001626	Abnormality of the cardiovascular system	6812	STXBP1	ORPHA:495818
HP:0001626	Abnormality of the cardiovascular system	57654	UVSSA	OMIM:614640
HP:0001626	Abnormality of the cardiovascular system	4361	MRE11	OMIM:604391
HP:0001626	Abnormality of the cardiovascular system	4126	MANBA	OMIM:248510
HP:0001626	Abnormality of the cardiovascular system	716	C1S	OMIM:617174
HP:0001626	Abnormality of the cardiovascular system	5831	PYCR1	OMIM:612940
HP:0001626	Abnormality of the cardiovascular system	5831	PYCR1	OMIM:614438
HP:0001626	Abnormality of the cardiovascular system	2353	FOS	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	715	C1R	OMIM:130080
HP:0001626	Abnormality of the cardiovascular system	91252	SLC39A13	OMIM:612350
HP:0001626	Abnormality of the cardiovascular system	84919	PPP1R15B	OMIM:616817
HP:0001626	Abnormality of the cardiovascular system	7424	VEGFC	OMIM:615907
HP:0001626	Abnormality of the cardiovascular system	10262	SF3B4	OMIM:154400
HP:0001626	Abnormality of the cardiovascular system	11005	SPINK5	OMIM:256500
HP:0001626	Abnormality of the cardiovascular system	11005	SPINK5	ORPHA:634
HP:0001626	Abnormality of the cardiovascular system	224	ALDH3A2	ORPHA:816
HP:0001626	Abnormality of the cardiovascular system	6785	ELOVL4	ORPHA:1955
HP:0001626	Abnormality of the cardiovascular system	1369	CPN1	OMIM:212070
HP:0001626	Abnormality of the cardiovascular system	8036	SHOC2	OMIM:607721
HP:0001626	Abnormality of the cardiovascular system	8367	H4C5	OMIM:619950
HP:0001626	Abnormality of the cardiovascular system	23135	KDM6B	OMIM:618505
HP:0001626	Abnormality of the cardiovascular system	64324	NSD1	ORPHA:821
HP:0001626	Abnormality of the cardiovascular system	10297	APC2	ORPHA:821
HP:0001626	Abnormality of the cardiovascular system	57492	ARID1B	OMIM:135900
HP:0001626	Abnormality of the cardiovascular system	340665	CYP26C1	ORPHA:398189
HP:0001626	Abnormality of the cardiovascular system	23219	FBXO28	OMIM:619777
HP:0001626	Abnormality of the cardiovascular system	2672	GFI1	ORPHA:486
HP:0001626	Abnormality of the cardiovascular system	10943	MSL3	OMIM:301032
HP:0001626	Abnormality of the cardiovascular system	54872	PIGG	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	7469	NELFA	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	2475	MTOR	ORPHA:457485
HP:0001626	Abnormality of the cardiovascular system	7020	TFAP2A	ORPHA:1297
HP:0001626	Abnormality of the cardiovascular system	399	RHOH	OMIM:618307
HP:0001626	Abnormality of the cardiovascular system	3785	KCNQ2	ORPHA:439218
HP:0001626	Abnormality of the cardiovascular system	64682	ANAPC1	ORPHA:221008
HP:0001626	Abnormality of the cardiovascular system	9791	PTDSS1	OMIM:151050
HP:0001626	Abnormality of the cardiovascular system	11128	POLR3A	OMIM:264090
HP:0001626	Abnormality of the cardiovascular system	11128	POLR3A	ORPHA:3455
HP:0001626	Abnormality of the cardiovascular system	5604	MAP2K1	ORPHA:1340
HP:0001626	Abnormality of the cardiovascular system	64419	MTMR14	ORPHA:169189
HP:0001626	Abnormality of the cardiovascular system	4618	MYF6	ORPHA:169189
HP:0001626	Abnormality of the cardiovascular system	2255	FGF10	ORPHA:2363
HP:0001626	Abnormality of the cardiovascular system	3141	HLCS	ORPHA:79242
HP:0001626	Abnormality of the cardiovascular system	10804	GJB6	ORPHA:477
HP:0001626	Abnormality of the cardiovascular system	2706	GJB2	ORPHA:477
HP:0001626	Abnormality of the cardiovascular system	2706	GJB2	OMIM:148210
HP:0001626	Abnormality of the cardiovascular system	404672	GTF2H5	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	7737	RNF113A	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	136647	MPLKIP	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	136647	MPLKIP	OMIM:234050
HP:0001626	Abnormality of the cardiovascular system	6897	TARS1	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	2961	GTF2E2	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	1308	COL17A1	ORPHA:293381
HP:0001626	Abnormality of the cardiovascular system	4547	MTTP	ORPHA:14
HP:0001626	Abnormality of the cardiovascular system	2934	GSN	ORPHA:85448
HP:0001626	Abnormality of the cardiovascular system	4081	MAB21L1	OMIM:618479
HP:0001626	Abnormality of the cardiovascular system	84168	ANTXR1	OMIM:230740
HP:0001626	Abnormality of the cardiovascular system	1282	COL4A1	OMIM:180000
HP:0001626	Abnormality of the cardiovascular system	1282	COL4A1	OMIM:611773
HP:0001626	Abnormality of the cardiovascular system	1282	COL4A1	OMIM:175780
HP:0001626	Abnormality of the cardiovascular system	6804	STX1A	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	7461	CLIP2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	84277	DNAJC30	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	8468	FKBP6	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	5982	RFC2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	2969	GTF2I	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	3984	LIMK1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	9569	GTF2IRD1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	155382	VPS37D	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	155368	METTL27	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	114049	BUD23	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	7458	EIF4H	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	84163	GTF2IRD2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	9275	BCL7B	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	26608	TBL2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	653361	NCF1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	135886	TMEM270	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	51085	MLXIPL	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	51085	MLXIPL	OMIM:194050
HP:0001626	Abnormality of the cardiovascular system	9031	BAZ1B	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	4508	MT-ATP6	ORPHA:644
HP:0001626	Abnormality of the cardiovascular system	5447	POR	OMIM:201750
HP:0001626	Abnormality of the cardiovascular system	5977	DPF2	OMIM:618027
HP:0001626	Abnormality of the cardiovascular system	91179	SCARF2	OMIM:600920
HP:0001626	Abnormality of the cardiovascular system	117581	TWIST2	OMIM:200110
HP:0001626	Abnormality of the cardiovascular system	54870	QRICH1	OMIM:617982
HP:0001626	Abnormality of the cardiovascular system	202018	TAPT1	OMIM:616897
HP:0001626	Abnormality of the cardiovascular system	55784	MCTP2	ORPHA:1596
HP:0001626	Abnormality of the cardiovascular system	55690	PACS1	OMIM:615009
HP:0001626	Abnormality of the cardiovascular system	55690	PACS1	ORPHA:329224
HP:0001626	Abnormality of the cardiovascular system	84992	PIGY	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	84720	PIGO	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	93210	PGAP3	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	284098	PIGW	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	27315	PGAP2	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	55650	PIGV	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	3190	HNRNPK	OMIM:616580
HP:0001626	Abnormality of the cardiovascular system	84231	TRAF7	OMIM:618164
HP:0001626	Abnormality of the cardiovascular system	10463	SLC30A9	OMIM:617595
HP:0001626	Abnormality of the cardiovascular system	10274	STAG1	OMIM:617635
HP:0001626	Abnormality of the cardiovascular system	7473	WNT3	OMIM:273395
HP:0001626	Abnormality of the cardiovascular system	3239	HOXD13	ORPHA:887
HP:0001626	Abnormality of the cardiovascular system	11011	TLK2	OMIM:618050
HP:0001626	Abnormality of the cardiovascular system	1656	DDX6	OMIM:618653
HP:0001626	Abnormality of the cardiovascular system	54903	MKS1	OMIM:249000
HP:0001626	Abnormality of the cardiovascular system	23384	SPECC1L	OMIM:145420
HP:0001626	Abnormality of the cardiovascular system	1534	CYB561	OMIM:618182
HP:0001626	Abnormality of the cardiovascular system	6622	SNCA	OMIM:605543
HP:0001626	Abnormality of the cardiovascular system	1136	CHRNA3	OMIM:191800
HP:0001626	Abnormality of the cardiovascular system	29926	GMPPA	OMIM:615510
HP:0001626	Abnormality of the cardiovascular system	8086	AAAS	OMIM:231550
HP:0001626	Abnormality of the cardiovascular system	2632	GBE1	OMIM:263570
HP:0001626	Abnormality of the cardiovascular system	51142	CHCHD2	OMIM:616710
HP:0001626	Abnormality of the cardiovascular system	80208	SPG11	ORPHA:2822
HP:0001626	Abnormality of the cardiovascular system	4001	LMNB1	ORPHA:99027
HP:0001626	Abnormality of the cardiovascular system	100996717	NOTCH2NLC	OMIM:603472
HP:0001626	Abnormality of the cardiovascular system	9152	SLC6A5	OMIM:614618
HP:0001626	Abnormality of the cardiovascular system	1512	CTSH	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	5032	P2RY11	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	4340	MOG	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	3119	HLA-DQB1	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	3060	HCRT	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	22891	ZNF365	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	7292	TNFSF4	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	144245	ALG10B	OMIM:613688
HP:0001626	Abnormality of the cardiovascular system	9342	SNAP29	ORPHA:66631
HP:0001626	Abnormality of the cardiovascular system	11093	ADAMTS13	OMIM:274150
HP:0001626	Abnormality of the cardiovascular system	28976	ACAD9	OMIM:611126
HP:0001626	Abnormality of the cardiovascular system	5583	PRKCH	OMIM:601367
HP:0001626	Abnormality of the cardiovascular system	241	ALOX5AP	OMIM:601367
HP:0001626	Abnormality of the cardiovascular system	445	ASS1	OMIM:215700
HP:0001626	Abnormality of the cardiovascular system	1373	CPS1	OMIM:237300
HP:0001626	Abnormality of the cardiovascular system	25978	CHMP2B	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	2896	GRN	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	54664	TMEM106B	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	54209	TREM2	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	7415	VCP	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	1471	CST3	OMIM:105150
HP:0001626	Abnormality of the cardiovascular system	1471	CST3	ORPHA:100008
HP:0001626	Abnormality of the cardiovascular system	2677	GGCX	OMIM:277450
HP:0001626	Abnormality of the cardiovascular system	4771	NF2	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	6598	SMARCB1	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	6608	SMO	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	51684	SUFU	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	6605	SMARCE1	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:324713
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:324703
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:324708
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:100006
HP:0001626	Abnormality of the cardiovascular system	101101692	HELLPAR	ORPHA:244242
HP:0001626	Abnormality of the cardiovascular system	11274	USP18	OMIM:617397
HP:0001626	Abnormality of the cardiovascular system	727676	SNORD118	ORPHA:542310
HP:0001626	Abnormality of the cardiovascular system	9414	TJP2	OMIM:615878
HP:0001626	Abnormality of the cardiovascular system	50674	NEUROG3	ORPHA:83620
HP:0001626	Abnormality of the cardiovascular system	23729	SHPK	ORPHA:440713
HP:0001626	Abnormality of the cardiovascular system	113220	KIF12	OMIM:619662
HP:0001626	Abnormality of the cardiovascular system	3071	NCKAP1L	OMIM:618982
HP:0001626	Abnormality of the cardiovascular system	10466	COG5	ORPHA:263487
HP:0001626	Abnormality of the cardiovascular system	55823	VPS11	ORPHA:466934
HP:0001626	Abnormality of the cardiovascular system	79722	ANKRD55	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	919	CD247	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	919	CD247	ORPHA:169160
HP:0001626	Abnormality of the cardiovascular system	5771	PTPN2	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	3716	JAK1	OMIM:618999
HP:0001626	Abnormality of the cardiovascular system	2122	MECOM	OMIM:616738
HP:0001626	Abnormality of the cardiovascular system	1080	CFTR	OMIM:219700
HP:0001626	Abnormality of the cardiovascular system	915	CD3D	ORPHA:169160
HP:0001626	Abnormality of the cardiovascular system	916	CD3E	ORPHA:169160
HP:0001626	Abnormality of the cardiovascular system	1777	DNASE2	OMIM:619858
HP:0001626	Abnormality of the cardiovascular system	3376	IARS1	ORPHA:541423
HP:0001626	Abnormality of the cardiovascular system	26154	ABCA12	OMIM:601277
HP:0001626	Abnormality of the cardiovascular system	285282	RABL3	ORPHA:1333
HP:0001626	Abnormality of the cardiovascular system	23022	PALLD	ORPHA:1333
HP:0001626	Abnormality of the cardiovascular system	2584	GALK1	ORPHA:79237
HP:0001626	Abnormality of the cardiovascular system	9051	PSTPIP1	OMIM:604416
HP:0001626	Abnormality of the cardiovascular system	970	CD70	OMIM:618261
HP:0001626	Abnormality of the cardiovascular system	9371	KIF3B	OMIM:618955
HP:0001626	Abnormality of the cardiovascular system	2729	GCLC	ORPHA:33574
HP:0001626	Abnormality of the cardiovascular system	7030	TFE3	OMIM:301066
HP:0001626	Abnormality of the cardiovascular system	2193	FARSA	OMIM:619013
HP:0001626	Abnormality of the cardiovascular system	5194	PEX13	OMIM:614885
HP:0001626	Abnormality of the cardiovascular system	1513	CTSK	ORPHA:763
HP:0001626	Abnormality of the cardiovascular system	6006	RHCE	ORPHA:71275
HP:0001626	Abnormality of the cardiovascular system	203547	VMA21	OMIM:310440
HP:0001626	Abnormality of the cardiovascular system	7018	TF	ORPHA:1195
HP:0001626	Abnormality of the cardiovascular system	1028	CDKN1C	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	5324	PLAG1	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	729920	CRPPA	ORPHA:352479
HP:0001626	Abnormality of the cardiovascular system	3090	HIC1	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	5048	PAFAH1B1	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	7531	YWHAE	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	55687	TRMU	ORPHA:254864
HP:0001626	Abnormality of the cardiovascular system	1291	COL6A1	OMIM:158810
HP:0001626	Abnormality of the cardiovascular system	1292	COL6A2	OMIM:158810
HP:0001626	Abnormality of the cardiovascular system	1293	COL6A3	OMIM:158810
HP:0001626	Abnormality of the cardiovascular system	346171	ZFP57	ORPHA:99886
HP:0001626	Abnormality of the cardiovascular system	79631	EFL1	ORPHA:811
HP:0001626	Abnormality of the cardiovascular system	51132	RLIM	OMIM:300978
HP:0001626	Abnormality of the cardiovascular system	26053	AUTS2	ORPHA:352490
HP:0001626	Abnormality of the cardiovascular system	23233	EXOC6B	ORPHA:93359
HP:0001626	Abnormality of the cardiovascular system	2887	GRB10	ORPHA:96182
HP:0001626	Abnormality of the cardiovascular system	1457	CSNK2A1	OMIM:617062
HP:0001626	Abnormality of the cardiovascular system	58508	KMT2C	ORPHA:261652
HP:0001626	Abnormality of the cardiovascular system	2625	GATA3	ORPHA:2237
HP:0001626	Abnormality of the cardiovascular system	55681	SCYL2	ORPHA:1143
HP:0001626	Abnormality of the cardiovascular system	84570	COL25A1	ORPHA:1143
HP:0001626	Abnormality of the cardiovascular system	9851	KIAA0753	ORPHA:2754
HP:0001626	Abnormality of the cardiovascular system	5147	PDE6D	ORPHA:2754
HP:0001626	Abnormality of the cardiovascular system	317662	FAM149B1	ORPHA:2754
HP:0001626	Abnormality of the cardiovascular system	26173	INTS1	OMIM:618571
HP:0001626	Abnormality of the cardiovascular system	5813	PURA	ORPHA:314655
HP:0001626	Abnormality of the cardiovascular system	28981	IFT81	OMIM:617895
HP:0001626	Abnormality of the cardiovascular system	91801	ALKBH8	OMIM:618504
HP:0001626	Abnormality of the cardiovascular system	55209	SETD5	ORPHA:404440
HP:0001626	Abnormality of the cardiovascular system	79639	TMEM53	OMIM:619727
HP:0001626	Abnormality of the cardiovascular system	815	CAMK2A	OMIM:617798
HP:0001626	Abnormality of the cardiovascular system	51633	OTUD6B	OMIM:617452
HP:0001626	Abnormality of the cardiovascular system	51633	OTUD6B	ORPHA:505237
HP:0001626	Abnormality of the cardiovascular system	150468	CKAP2L	OMIM:272440
HP:0001626	Abnormality of the cardiovascular system	150468	CKAP2L	ORPHA:3255
HP:0001626	Abnormality of the cardiovascular system	200424	TET3	OMIM:618798
HP:0001626	Abnormality of the cardiovascular system	23499	MACF1	OMIM:618325
HP:0001626	Abnormality of the cardiovascular system	8621	CDK13	OMIM:617360
HP:0001626	Abnormality of the cardiovascular system	6792	CDKL5	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	3736	KCNA1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	9091	PIGQ	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	2775	GNAO1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	81603	TRIM8	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	79751	SLC25A22	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	150094	SIK1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	23312	DMXL2	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	2917	GRM7	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	6326	SCN2A	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	51227	PIGP	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	4761	NEUROD2	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	23314	SATB2	ORPHA:251028
HP:0001626	Abnormality of the cardiovascular system	372	ARCN1	OMIM:617164
HP:0001626	Abnormality of the cardiovascular system	6304	SATB1	OMIM:619229
HP:0001626	Abnormality of the cardiovascular system	9343	EFTUD2	OMIM:610536
HP:0001626	Abnormality of the cardiovascular system	407975	MIR17HG	ORPHA:391646
HP:0001626	Abnormality of the cardiovascular system	5297	PI4KA	ORPHA:436252
HP:0001626	Abnormality of the cardiovascular system	3643	INSR	ORPHA:769
HP:0001626	Abnormality of the cardiovascular system	83700	JAM3	OMIM:613730
HP:0001626	Abnormality of the cardiovascular system	4036	LRP2	ORPHA:2143
HP:0001626	Abnormality of the cardiovascular system	4036	LRP2	OMIM:222448
HP:0001626	Abnormality of the cardiovascular system	55719	SLF2	OMIM:620184
HP:0001626	Abnormality of the cardiovascular system	6558	SLC12A2	OMIM:619083
HP:0001626	Abnormality of the cardiovascular system	10236	HNRNPR	OMIM:620073
HP:0001626	Abnormality of the cardiovascular system	51244	CCDC174	OMIM:616816
HP:0001626	Abnormality of the cardiovascular system	10324	KLHL41	OMIM:615731
HP:0001626	Abnormality of the cardiovascular system	83479	DDX59	OMIM:174300
HP:0001626	Abnormality of the cardiovascular system	5160	PDHA1	ORPHA:79243
HP:0001626	Abnormality of the cardiovascular system	5160	PDHA1	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	6606	SMN1	OMIM:253300
HP:0001626	Abnormality of the cardiovascular system	3209	HOXA13	ORPHA:2438
HP:0001626	Abnormality of the cardiovascular system	7074	TIAM1	OMIM:619908
HP:0001626	Abnormality of the cardiovascular system	157680	VPS13B	ORPHA:193
HP:0001626	Abnormality of the cardiovascular system	80704	SLC19A3	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	91942	NDUFAF2	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4723	NDUFV1	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	55572	FOXRED1	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4729	NDUFV2	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	55967	NDUFA12	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	51204	TACO1	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4728	NDUFS8	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4722	NDUFS3	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	79133	NDUFAF5	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	1355	COX15	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	51079	NDUFA13	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	374291	NDUFS7	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4705	NDUFA10	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4719	NDUFS1	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4697	NDUFA4	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	4704	NDUFA9	ORPHA:255241
HP:0001626	Abnormality of the cardiovascular system	51780	KDM3B	OMIM:618846
HP:0001626	Abnormality of the cardiovascular system	9439	MED23	OMIM:614249
HP:0001626	Abnormality of the cardiovascular system	124583	CANT1	ORPHA:1425
HP:0001626	Abnormality of the cardiovascular system	28960	DCPS	OMIM:616459
HP:0001626	Abnormality of the cardiovascular system	8558	CDK10	OMIM:617694
HP:0001626	Abnormality of the cardiovascular system	7385	UQCRC2	OMIM:615160
HP:0001626	Abnormality of the cardiovascular system	1363	CPE	OMIM:619326
HP:0001626	Abnormality of the cardiovascular system	51114	ZDHHC9	ORPHA:776
HP:0001626	Abnormality of the cardiovascular system	65109	UPF3B	ORPHA:776
HP:0001626	Abnormality of the cardiovascular system	54551	MAGEL2	ORPHA:398069
HP:0001626	Abnormality of the cardiovascular system	3188	HNRNPH2	OMIM:300986
HP:0001626	Abnormality of the cardiovascular system	55186	SLC25A36	OMIM:620211
HP:0001626	Abnormality of the cardiovascular system	5281	PIGF	OMIM:619356
HP:0001626	Abnormality of the cardiovascular system	56992	KIF15	ORPHA:261323
HP:0001626	Abnormality of the cardiovascular system	10841	FTCD	ORPHA:51208
HP:0001626	Abnormality of the cardiovascular system	6789	STK4	OMIM:614868
HP:0001626	Abnormality of the cardiovascular system	3911	LAMA5	OMIM:620076
HP:0001626	Abnormality of the cardiovascular system	50945	TBX22	ORPHA:921
HP:0001626	Abnormality of the cardiovascular system	84978	FRMD5	OMIM:620094
HP:0001626	Abnormality of the cardiovascular system	2258	FGF13	OMIM:301058
HP:0001626	Abnormality of the cardiovascular system	6857	SYT1	ORPHA:522077
HP:0001626	Abnormality of the cardiovascular system	3832	KIF11	ORPHA:2526
HP:0001626	Abnormality of the cardiovascular system	56776	FMN2	OMIM:616193
HP:0001626	Abnormality of the cardiovascular system	26278	SACS	ORPHA:98
HP:0001626	Abnormality of the cardiovascular system	1280	COL2A1	ORPHA:90653
HP:0001626	Abnormality of the cardiovascular system	1280	COL2A1	OMIM:108300
HP:0001626	Abnormality of the cardiovascular system	1356	CP	ORPHA:48818
HP:0001626	Abnormality of the cardiovascular system	3178	HNRNPA1	ORPHA:52430
HP:0001626	Abnormality of the cardiovascular system	3181	HNRNPA2B1	ORPHA:52430
HP:0001626	Abnormality of the cardiovascular system	6314	ATXN7	ORPHA:94147
HP:0001626	Abnormality of the cardiovascular system	7019	TFAM	OMIM:617156
HP:0001626	Abnormality of the cardiovascular system	115286	SLC25A26	OMIM:616794
HP:0001626	Abnormality of the cardiovascular system	203068	TUBB	ORPHA:2505
HP:0001626	Abnormality of the cardiovascular system	10982	MAPRE2	ORPHA:2505
HP:0001626	Abnormality of the cardiovascular system	8443	GNPAT	OMIM:222765
HP:0001626	Abnormality of the cardiovascular system	26275	HIBCH	ORPHA:88639
HP:0001626	Abnormality of the cardiovascular system	26275	HIBCH	OMIM:250620
HP:0001626	Abnormality of the cardiovascular system	1147	CHUK	OMIM:613630
HP:0001626	Abnormality of the cardiovascular system	8092	ALX1	ORPHA:306542
HP:0001626	Abnormality of the cardiovascular system	3579	CXCR2	OMIM:619407
HP:0001626	Abnormality of the cardiovascular system	257	ALX3	OMIM:136760
HP:0001626	Abnormality of the cardiovascular system	50717	DCAF8	OMIM:610100
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:171433
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:171439
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:399103
HP:0001626	Abnormality of the cardiovascular system	191	AHCY	OMIM:613752
HP:0001626	Abnormality of the cardiovascular system	191	AHCY	ORPHA:88618
HP:0001626	Abnormality of the cardiovascular system	8878	SQSTM1	ORPHA:603
HP:0001626	Abnormality of the cardiovascular system	7072	TIA1	ORPHA:603
HP:0001626	Abnormality of the cardiovascular system	9499	MYOT	OMIM:609200
HP:0001626	Abnormality of the cardiovascular system	9499	MYOT	ORPHA:98911
HP:0001626	Abnormality of the cardiovascular system	10352	WARS2	ORPHA:572798
HP:0001626	Abnormality of the cardiovascular system	10352	WARS2	OMIM:617710
HP:0001626	Abnormality of the cardiovascular system	51594	NBAS	OMIM:616483
HP:0001626	Abnormality of the cardiovascular system	25973	PARS2	OMIM:618437
HP:0001626	Abnormality of the cardiovascular system	390594	KBTBD13	ORPHA:171439
HP:0001626	Abnormality of the cardiovascular system	7084	TK2	ORPHA:254886
HP:0001626	Abnormality of the cardiovascular system	4576	MT-TT	ORPHA:254857
HP:0001626	Abnormality of the cardiovascular system	35	ACADS	OMIM:201470
HP:0001626	Abnormality of the cardiovascular system	35	ACADS	ORPHA:26792
HP:0001626	Abnormality of the cardiovascular system	3704	ITPA	OMIM:616647
HP:0001626	Abnormality of the cardiovascular system	84197	POMK	ORPHA:370959
HP:0001626	Abnormality of the cardiovascular system	283459	GATC	OMIM:618839
HP:0001626	Abnormality of the cardiovascular system	51099	ABHD5	ORPHA:98907
HP:0001626	Abnormality of the cardiovascular system	84700	MYO18B	OMIM:616549
HP:0001626	Abnormality of the cardiovascular system	55005	RMND1	OMIM:614922
HP:0001626	Abnormality of the cardiovascular system	203859	ANO5	ORPHA:206549
HP:0001626	Abnormality of the cardiovascular system	51300	TIMMDC1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	284184	NDUFAF8	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4694	NDUFA1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4726	NDUFS6	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4709	NDUFB3	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	80224	NUBPL	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	29078	NDUFAF4	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	29078	NDUFAF4	OMIM:618237
HP:0001626	Abnormality of the cardiovascular system	4700	NDUFA6	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4715	NDUFB9	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4570	MT-TN	OMIM:220110
HP:0001626	Abnormality of the cardiovascular system	84334	COA8	ORPHA:436271
HP:0001626	Abnormality of the cardiovascular system	84987	COX14	OMIM:619053
HP:0001626	Abnormality of the cardiovascular system	514	ATP5F1E	OMIM:614053
HP:0001626	Abnormality of the cardiovascular system	65080	MRPL44	OMIM:615395
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	ORPHA:496790
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	OMIM:618810
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	OMIM:617183
HP:0001626	Abnormality of the cardiovascular system	84833	ATP5MK	OMIM:618683
HP:0001626	Abnormality of the cardiovascular system	125988	MICOS13	OMIM:618329
HP:0001626	Abnormality of the cardiovascular system	5836	PYGL	ORPHA:369
HP:0001626	Abnormality of the cardiovascular system	51067	YARS2	OMIM:613561
HP:0001626	Abnormality of the cardiovascular system	58497	PRUNE1	ORPHA:544469
HP:0001626	Abnormality of the cardiovascular system	56945	MRPS22	OMIM:611719
HP:0001626	Abnormality of the cardiovascular system	11019	LIAS	OMIM:614462
HP:0001626	Abnormality of the cardiovascular system	60528	ELAC2	OMIM:615440
HP:0001626	Abnormality of the cardiovascular system	55278	QRSL1	OMIM:618835
HP:0001626	Abnormality of the cardiovascular system	4976	OPA1	OMIM:616896
HP:0001626	Abnormality of the cardiovascular system	57570	TRMT5	OMIM:616539
HP:0001626	Abnormality of the cardiovascular system	617	BCS1L	OMIM:124000
HP:0001626	Abnormality of the cardiovascular system	84233	TMEM126A	OMIM:612989
HP:0001626	Abnormality of the cardiovascular system	129285	PPP1R21	OMIM:619383
HP:0001626	Abnormality of the cardiovascular system	9054	NFS1	OMIM:619386
HP:0001626	Abnormality of the cardiovascular system	22868	FASTKD2	OMIM:618855
HP:0001626	Abnormality of the cardiovascular system	3028	HSD17B10	ORPHA:391428
HP:0001626	Abnormality of the cardiovascular system	94005	PIGS	OMIM:618143
HP:0001626	Abnormality of the cardiovascular system	5188	GATB	OMIM:618838
HP:0001626	Abnormality of the cardiovascular system	57107	PDSS2	ORPHA:255249
HP:0001626	Abnormality of the cardiovascular system	23291	FBXW11	OMIM:618914
HP:0001626	Abnormality of the cardiovascular system	3097	HIVEP2	OMIM:616977
HP:0001626	Abnormality of the cardiovascular system	1757	SARDH	ORPHA:3129
HP:0001626	Abnormality of the cardiovascular system	9378	NRXN1	OMIM:614325
HP:0001626	Abnormality of the cardiovascular system	23152	CIC	OMIM:617600
HP:0001626	Abnormality of the cardiovascular system	93627	TBCK	ORPHA:488632
HP:0001626	Abnormality of the cardiovascular system	8642	DCHS1	ORPHA:314679
HP:0001626	Abnormality of the cardiovascular system	84905	ZNF341	OMIM:618282
HP:0001626	Abnormality of the cardiovascular system	1107	CHD3	OMIM:618205
HP:0001626	Abnormality of the cardiovascular system	4038	LRP4	OMIM:212780
HP:0001626	Abnormality of the cardiovascular system	27034	ACAD8	ORPHA:79159
HP:0001626	Abnormality of the cardiovascular system	51126	NAA20	OMIM:619717
HP:0001626	Abnormality of the cardiovascular system	7021	TFAP2B	OMIM:169100
HP:0001626	Abnormality of the cardiovascular system	7021	TFAP2B	ORPHA:46627
HP:0001626	Abnormality of the cardiovascular system	7021	TFAP2B	OMIM:617035
HP:0001626	Abnormality of the cardiovascular system	1131	CHRM3	ORPHA:2970
HP:0001626	Abnormality of the cardiovascular system	1131	CHRM3	OMIM:100100
HP:0001626	Abnormality of the cardiovascular system	9578	CDC42BPB	OMIM:619841
HP:0001626	Abnormality of the cardiovascular system	5189	PEX1	OMIM:214100
HP:0001626	Abnormality of the cardiovascular system	57178	ZMIZ1	OMIM:618659
HP:0001626	Abnormality of the cardiovascular system	5950	RBP4	OMIM:615147
HP:0001626	Abnormality of the cardiovascular system	3476	IGBP1	ORPHA:52055
HP:0001626	Abnormality of the cardiovascular system	3476	IGBP1	OMIM:300472
HP:0001626	Abnormality of the cardiovascular system	23126	POGZ	OMIM:616364
HP:0001626	Abnormality of the cardiovascular system	57863	CADM3	OMIM:619519
HP:0001626	Abnormality of the cardiovascular system	7750	ZMYM2	OMIM:619522
HP:0001626	Abnormality of the cardiovascular system	79971	WLS	OMIM:619648
HP:0001626	Abnormality of the cardiovascular system	1523	CUX1	OMIM:618330
HP:0001626	Abnormality of the cardiovascular system	27429	HTRA2	OMIM:617248
HP:0001626	Abnormality of the cardiovascular system	2530	FUT8	OMIM:618005
HP:0001626	Abnormality of the cardiovascular system	93166	PRDM6	OMIM:617039
HP:0001626	Abnormality of the cardiovascular system	4990	SIX6	OMIM:206900
HP:0001626	Abnormality of the cardiovascular system	57061	HYMAI	ORPHA:96191
HP:0001626	Abnormality of the cardiovascular system	5325	PLAGL1	ORPHA:96191
HP:0001626	Abnormality of the cardiovascular system	26005	C2CD3	ORPHA:434179
HP:0001626	Abnormality of the cardiovascular system	26005	C2CD3	OMIM:615948
HP:0001626	Abnormality of the cardiovascular system	8239	USP9X	OMIM:300968
HP:0001626	Abnormality of the cardiovascular system	8239	USP9X	ORPHA:480880
HP:0001626	Abnormality of the cardiovascular system	55252	ASXL2	OMIM:617190
HP:0001626	Abnormality of the cardiovascular system	6748	SSR4	ORPHA:370927
HP:0001626	Abnormality of the cardiovascular system	51506	UFC1	OMIM:618076
HP:0001626	Abnormality of the cardiovascular system	132158	GLYCTK	OMIM:220120
HP:0001626	Abnormality of the cardiovascular system	55148	UBR7	OMIM:619189
HP:0001626	Abnormality of the cardiovascular system	51021	MRPS16	OMIM:610498
HP:0001626	Abnormality of the cardiovascular system	79053	ALG8	OMIM:608104
HP:0001626	Abnormality of the cardiovascular system	54499	TMCO1	OMIM:213980
HP:0001626	Abnormality of the cardiovascular system	85358	SHANK3	OMIM:606232
HP:0001626	Abnormality of the cardiovascular system	113179	ADAT3	ORPHA:363528
HP:0001626	Abnormality of the cardiovascular system	4297	KMT2A	OMIM:605130
HP:0001626	Abnormality of the cardiovascular system	6659	SOX4	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	8289	ARID1A	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6601	SMARCC2	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6602	SMARCD1	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	196528	ARID2	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6664	SOX11	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	51008	ASCC1	OMIM:616867
HP:0001626	Abnormality of the cardiovascular system	6638	SNRPN	ORPHA:177907
HP:0001626	Abnormality of the cardiovascular system	6628	SNRPB	OMIM:117650
HP:0001626	Abnormality of the cardiovascular system	5331	PLCB3	OMIM:618961
HP:0001626	Abnormality of the cardiovascular system	9757	KMT2B	OMIM:619934
HP:0001626	Abnormality of the cardiovascular system	84148	KAT8	OMIM:618974
HP:0001626	Abnormality of the cardiovascular system	9015	TAF1A	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7112	TMPO	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9464	HAND2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	10486	CAP2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	27063	ANKRD1	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	2274	FHL2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	3033	HADH	OMIM:231530
HP:0001626	Abnormality of the cardiovascular system	3033	HADH	ORPHA:71212
HP:0001626	Abnormality of the cardiovascular system	23417	MLYCD	OMIM:248360
HP:0001626	Abnormality of the cardiovascular system	57122	NUP107	OMIM:618348
HP:0001626	Abnormality of the cardiovascular system	57122	NUP107	OMIM:616730
HP:0001626	Abnormality of the cardiovascular system	6442	SGCA	OMIM:608099
HP:0001626	Abnormality of the cardiovascular system	3909	LAMA3	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	3918	LAMC2	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	3914	LAMB3	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	1120	CHKB	OMIM:602541
HP:0001626	Abnormality of the cardiovascular system	92667	MGME1	OMIM:615084
HP:0001626	Abnormality of the cardiovascular system	92667	MGME1	ORPHA:352447
HP:0001626	Abnormality of the cardiovascular system	55182	RNF220	OMIM:619688
HP:0001626	Abnormality of the cardiovascular system	6443	SGCB	OMIM:604286
HP:0001626	Abnormality of the cardiovascular system	513	ATP5F1D	OMIM:618120
HP:0001626	Abnormality of the cardiovascular system	8884	SLC5A6	OMIM:619903
HP:0001626	Abnormality of the cardiovascular system	388962	BOLA3	OMIM:614299
HP:0001626	Abnormality of the cardiovascular system	111	ADCY5	OMIM:606703
HP:0001626	Abnormality of the cardiovascular system	111	ADCY5	ORPHA:324588
HP:0001626	Abnormality of the cardiovascular system	1374	CPT1A	ORPHA:156
HP:0001626	Abnormality of the cardiovascular system	23529	CLCF1	ORPHA:1545
HP:0001626	Abnormality of the cardiovascular system	9244	CRLF1	ORPHA:1545
HP:0001626	Abnormality of the cardiovascular system	2182	ACSL4	ORPHA:86818
HP:0001626	Abnormality of the cardiovascular system	9949	AMMECR1	ORPHA:86818
HP:0001626	Abnormality of the cardiovascular system	8473	OGT	OMIM:300997
HP:0001626	Abnormality of the cardiovascular system	6650	CAPN15	OMIM:619318
HP:0001626	Abnormality of the cardiovascular system	3020	H3-3A	OMIM:619720
HP:0001626	Abnormality of the cardiovascular system	55764	IFT122	OMIM:218330
HP:0001626	Abnormality of the cardiovascular system	8493	PPM1D	OMIM:617450
HP:0001626	Abnormality of the cardiovascular system	1909	EDNRA	OMIM:616367
HP:0001626	Abnormality of the cardiovascular system	54828	BCAS3	OMIM:619641
HP:0001626	Abnormality of the cardiovascular system	2222	FDFT1	OMIM:618156
HP:0001626	Abnormality of the cardiovascular system	4780	NFE2L2	OMIM:617744
HP:0001626	Abnormality of the cardiovascular system	93649	MYOCD	OMIM:618719
HP:0001626	Abnormality of the cardiovascular system	5528	PPP2R5D	ORPHA:457279
HP:0001626	Abnormality of the cardiovascular system	27161	AGO2	OMIM:619149
HP:0001626	Abnormality of the cardiovascular system	3679	ITGA7	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	9200	HACD1	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	51776	MAP3K20	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	2203	FBP1	ORPHA:348
HP:0001626	Abnormality of the cardiovascular system	2203	FBP1	OMIM:229700
HP:0001626	Abnormality of the cardiovascular system	8029	CUBN	ORPHA:35858
HP:0001626	Abnormality of the cardiovascular system	81693	AMN	ORPHA:35858
HP:0001626	Abnormality of the cardiovascular system	9692	PRORP	OMIM:619737
HP:0001626	Abnormality of the cardiovascular system	5837	PYGM	ORPHA:368
HP:0001626	Abnormality of the cardiovascular system	3172	HNF4A	ORPHA:263455
HP:0001626	Abnormality of the cardiovascular system	7253	TSHR	OMIM:609152
HP:0001626	Abnormality of the cardiovascular system	7253	TSHR	OMIM:603373
HP:0001626	Abnormality of the cardiovascular system	11285	B4GALT7	ORPHA:75496
HP:0001626	Abnormality of the cardiovascular system	10682	EBP	ORPHA:401973
HP:0001626	Abnormality of the cardiovascular system	10682	EBP	OMIM:300960
HP:0001626	Abnormality of the cardiovascular system	1859	DYRK1A	ORPHA:268261
HP:0001626	Abnormality of the cardiovascular system	1859	DYRK1A	ORPHA:464311
HP:0001626	Abnormality of the cardiovascular system	6873	TAF2	OMIM:615599
HP:0001626	Abnormality of the cardiovascular system	79753	SNIP1	OMIM:614501
HP:0001626	Abnormality of the cardiovascular system	84572	GNPTG	OMIM:252605
HP:0001626	Abnormality of the cardiovascular system	1801	DPH1	ORPHA:459061
HP:0001626	Abnormality of the cardiovascular system	23241	PACS2	OMIM:618067
HP:0001626	Abnormality of the cardiovascular system	25970	SH2B1	ORPHA:261197
HP:0001626	Abnormality of the cardiovascular system	79912	PYROXD1	OMIM:617258
HP:0001626	Abnormality of the cardiovascular system	6660	SOX5	ORPHA:313892
HP:0001626	Abnormality of the cardiovascular system	22873	DZIP1	OMIM:610840
HP:0001626	Abnormality of the cardiovascular system	84188	FAR1	ORPHA:447753
HP:0001626	Abnormality of the cardiovascular system	4054	LTBP3	OMIM:617809
HP:0001626	Abnormality of the cardiovascular system	2588	GALNS	OMIM:253000
HP:0001626	Abnormality of the cardiovascular system	3313	HSPA9	OMIM:616854
HP:0001626	Abnormality of the cardiovascular system	5119	CHMP1A	OMIM:614961
HP:0001626	Abnormality of the cardiovascular system	201163	FLCN	OMIM:610883
HP:0001626	Abnormality of the cardiovascular system	222663	SCUBE3	OMIM:619184
HP:0001626	Abnormality of the cardiovascular system	23028	KDM1A	ORPHA:477993
HP:0001626	Abnormality of the cardiovascular system	1301	COL11A1	OMIM:228520
HP:0001626	Abnormality of the cardiovascular system	1763	DNA2	OMIM:615156
HP:0001626	Abnormality of the cardiovascular system	11222	MRPL3	OMIM:614582
HP:0001626	Abnormality of the cardiovascular system	91461	PKDCC	OMIM:618821
HP:0001626	Abnormality of the cardiovascular system	55617	TASP1	OMIM:618950
HP:0001626	Abnormality of the cardiovascular system	9739	SETD1A	OMIM:618832
HP:0001626	Abnormality of the cardiovascular system	10430	TMEM147	OMIM:620075
HP:0001626	Abnormality of the cardiovascular system	57479	PRR12	OMIM:619539
HP:0001626	Abnormality of the cardiovascular system	3480	IGF1R	OMIM:270450
HP:0001626	Abnormality of the cardiovascular system	6535	SLC6A8	OMIM:300352
HP:0001626	Abnormality of the cardiovascular system	590	BCHE	ORPHA:132
HP:0001626	Abnormality of the cardiovascular system	57187	THOC2	ORPHA:457240
HP:0001626	Abnormality of the cardiovascular system	26128	KIFBP	OMIM:609460
HP:0001626	Abnormality of the cardiovascular system	23334	SZT2	OMIM:615476
HP:0001626	Abnormality of the cardiovascular system	728294	D2HGDH	OMIM:600721
HP:0001626	Abnormality of the cardiovascular system	8022	LHX3	ORPHA:226307
HP:0001626	Abnormality of the cardiovascular system	7849	PAX8	OMIM:218700
HP:0001626	Abnormality of the cardiovascular system	7252	TSHB	ORPHA:90674
HP:0001626	Abnormality of the cardiovascular system	95	ACY1	OMIM:609924
HP:0001626	Abnormality of the cardiovascular system	405753	DUOXA2	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	6528	SLC5A5	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	7038	TG	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	7173	TPO	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	389434	IYD	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	50506	DUOX2	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	1892	ECHS1	OMIM:616277
HP:0001626	Abnormality of the cardiovascular system	221927	BRAT1	OMIM:614498
HP:0001626	Abnormality of the cardiovascular system	10617	STAMBP	OMIM:614261
HP:0001626	Abnormality of the cardiovascular system	8604	SLC25A12	OMIM:612949
HP:0001626	Abnormality of the cardiovascular system	63894	VIPAS39	OMIM:613404
HP:0001626	Abnormality of the cardiovascular system	23389	MED13L	OMIM:616789
HP:0001626	Abnormality of the cardiovascular system	26227	PHGDH	OMIM:256520
HP:0001626	Abnormality of the cardiovascular system	85366	MYLK2	OMIM:192600
HP:0001626	Abnormality of the cardiovascular system	3192	HNRNPU	ORPHA:238769
HP:0001626	Abnormality of the cardiovascular system	894	CCND2	ORPHA:83473
HP:0001626	Abnormality of the cardiovascular system	25885	POLR1A	ORPHA:1200
HP:0001626	Abnormality of the cardiovascular system	10907	TXNL4A	ORPHA:1200
HP:0001626	Abnormality of the cardiovascular system	7204	TRIO	ORPHA:476126
HP:0001626	Abnormality of the cardiovascular system	27152	INTU	OMIM:617925
HP:0001626	Abnormality of the cardiovascular system	336	APOA2	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2053	EPHX2	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	10842	PPP1R17	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2690	GHR	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2099	ESR1	ORPHA:785
HP:0001626	Abnormality of the cardiovascular system	89910	UBE3B	OMIM:244450
HP:0001626	Abnormality of the cardiovascular system	146862	UNC45B	OMIM:619178
HP:0001626	Abnormality of the cardiovascular system	1108	CHD4	OMIM:617159
HP:0001626	Abnormality of the cardiovascular system	139285	AMER1	ORPHA:2780
HP:0001626	Abnormality of the cardiovascular system	8294	H4C9	OMIM:619951
HP:0001626	Abnormality of the cardiovascular system	29081	METTL5	OMIM:618665
HP:0001626	Abnormality of the cardiovascular system	10765	KDM5B	OMIM:618109
HP:0001626	Abnormality of the cardiovascular system	132	ADK	OMIM:614300
HP:0001626	Abnormality of the cardiovascular system	256297	PTF1A	OMIM:609069
HP:0001626	Abnormality of the cardiovascular system	79759	ZNF668	OMIM:620194
HP:0001626	Abnormality of the cardiovascular system	80055	PGAP1	OMIM:615802
HP:0001626	Abnormality of the cardiovascular system	471	ATIC	OMIM:608688
HP:0001626	Abnormality of the cardiovascular system	9325	TRIP4	OMIM:616866
HP:0001626	Abnormality of the cardiovascular system	10079	ATP9A	OMIM:620242
HP:0001626	Abnormality of the cardiovascular system	4212	MEIS2	OMIM:600987
HP:0001626	Abnormality of the cardiovascular system	59336	PRDM13	OMIM:619909
HP:0001626	Abnormality of the cardiovascular system	283446	MYO1H	OMIM:619482
HP:0001626	Abnormality of the cardiovascular system	84340	GFM2	OMIM:618397
HP:0001626	Abnormality of the cardiovascular system	7259	TSPYL1	ORPHA:168593
HP:0001626	Abnormality of the cardiovascular system	1861	TOR1A	OMIM:618947
HP:0001626	Abnormality of the cardiovascular system	54675	CRLS1	OMIM:620167
HP:0001626	Abnormality of the cardiovascular system	4695	NDUFA2	OMIM:618235
HP:0001626	Abnormality of the cardiovascular system	6182	MRPL12	OMIM:618951
HP:0001626	Abnormality of the cardiovascular system	25782	RAB3GAP2	OMIM:212720
HP:0001626	Abnormality of the cardiovascular system	5396	PRRX1	ORPHA:990
HP:0001626	Abnormality of the cardiovascular system	5396	PRRX1	OMIM:202650
HP:0001626	Abnormality of the cardiovascular system	23568	ARL2BP	OMIM:615434
HP:0001626	Abnormality of the cardiovascular system	4487	MSX1	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	5818	NECTIN1	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	3664	IRF6	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	10991	SLC38A3	OMIM:619881
HP:0001626	Abnormality of the cardiovascular system	146845	CFAP52	OMIM:619607
HP:0001626	Abnormality of the cardiovascular system	10126	DNAL4	OMIM:616059
HP:0001626	Abnormality of the cardiovascular system	85452	CFAP74	OMIM:620197
HP:0001626	Abnormality of the cardiovascular system	8382	NME5	OMIM:620032
HP:0001626	Abnormality of the cardiovascular system	10084	PQBP1	OMIM:309500
HP:0001626	Abnormality of the cardiovascular system	203286	ANKS6	OMIM:615382
HP:0001626	Abnormality of the cardiovascular system	5784	PTPN14	OMIM:613611
HP:0001626	Abnormality of the cardiovascular system	25821	MTO1	OMIM:614702
HP:0001626	Abnormality of the cardiovascular system	84162	BLTP1	OMIM:617822
HP:0001626	Abnormality of the cardiovascular system	10203	CALCRL	OMIM:618773
HP:0001626	Abnormality of the cardiovascular system	3920	LAMP2	OMIM:300257
HP:0001626	Abnormality of the cardiovascular system	51119	SBDS	OMIM:260400
HP:0001626	Abnormality of the cardiovascular system	134218	DNAJC21	OMIM:260400
HP:0001626	Abnormality of the cardiovascular system	6729	SRP54	OMIM:260400
HP:0001626	Abnormality of the cardiovascular system	144811	LACC1	ORPHA:85414
HP:0001626	Abnormality of the cardiovascular system	4282	MIF	ORPHA:85414
HP:0001626	Abnormality of the cardiovascular system	3569	IL6	ORPHA:85414
HP:0001626	Abnormality of the cardiovascular system	4094	MAF	ORPHA:1272
HP:0001626	Abnormality of the cardiovascular system	4094	MAF	OMIM:601088
HP:0001626	Abnormality of the cardiovascular system	10216	PRG4	ORPHA:2848
HP:0001626	Abnormality of the cardiovascular system	5373	PMM2	ORPHA:79318
HP:0001626	Abnormality of the cardiovascular system	5373	PMM2	OMIM:212065
HP:0001626	Abnormality of the cardiovascular system	2212	FCGR2A	OMIM:152700
HP:0001626	Abnormality of the cardiovascular system	2213	FCGR2B	OMIM:152700
HP:0001626	Abnormality of the cardiovascular system	1773	DNASE1	OMIM:152700
HP:0001626	Abnormality of the cardiovascular system	3039	HBA1	ORPHA:163596
HP:0001626	Abnormality of the cardiovascular system	3040	HBA2	ORPHA:163596
HP:0001626	Abnormality of the cardiovascular system	6197	RPS6KA3	ORPHA:192
HP:0001626	Abnormality of the cardiovascular system	3423	IDS	ORPHA:217085
HP:0001626	Abnormality of the cardiovascular system	3423	IDS	ORPHA:217093
HP:0001626	Abnormality of the cardiovascular system	64359	NXN	ORPHA:1507
HP:0001626	Abnormality of the cardiovascular system	113189	CHST14	OMIM:601776
HP:0001626	Abnormality of the cardiovascular system	54539	NDUFB11	ORPHA:2556
HP:0001626	Abnormality of the cardiovascular system	3052	HCCS	ORPHA:2556
HP:0001626	Abnormality of the cardiovascular system	4920	ROR2	OMIM:268310
HP:0001626	Abnormality of the cardiovascular system	6901	TAFAZZIN	ORPHA:111
HP:0001626	Abnormality of the cardiovascular system	6901	TAFAZZIN	OMIM:302060
HP:0001626	Abnormality of the cardiovascular system	6584	SLC22A5	OMIM:212140
HP:0001626	Abnormality of the cardiovascular system	9158	FIBP	ORPHA:500095
HP:0001626	Abnormality of the cardiovascular system	57190	SELENON	ORPHA:324604
HP:0001626	Abnormality of the cardiovascular system	2902	GRIN1	OMIM:619814
HP:0001626	Abnormality of the cardiovascular system	5593	PRKG2	OMIM:619636
HP:0001626	Abnormality of the cardiovascular system	4509	MT-ATP8	ORPHA:480
HP:0001626	Abnormality of the cardiovascular system	79813	EHMT1	OMIM:610253
HP:0001626	Abnormality of the cardiovascular system	79813	EHMT1	ORPHA:96147
HP:0001626	Abnormality of the cardiovascular system	274	BIN1	ORPHA:169186
HP:0001626	Abnormality of the cardiovascular system	10290	SPEG	ORPHA:169186
HP:0001626	Abnormality of the cardiovascular system	10128	LRPPRC	OMIM:220111
HP:0001626	Abnormality of the cardiovascular system	5663	PSEN1	OMIM:613694
HP:0001626	Abnormality of the cardiovascular system	57539	WDR35	OMIM:613610
HP:0001626	Abnormality of the cardiovascular system	2997	GYS1	OMIM:611556
HP:0001626	Abnormality of the cardiovascular system	51343	FZR1	OMIM:620145
HP:0001626	Abnormality of the cardiovascular system	10159	ATP6AP2	ORPHA:93952
HP:0001626	Abnormality of the cardiovascular system	51218	GLRX5	ORPHA:401866
HP:0001626	Abnormality of the cardiovascular system	6341	SCO1	OMIM:619048
HP:0001626	Abnormality of the cardiovascular system	83715	ESPN	OMIM:618632
HP:0001626	Abnormality of the cardiovascular system	10229	COQ7	OMIM:616733
HP:0001626	Abnormality of the cardiovascular system	54931	TRMT10C	OMIM:616974
HP:0001626	Abnormality of the cardiovascular system	1956	EGFR	ORPHA:294023
HP:0001626	Abnormality of the cardiovascular system	153642	ARSK	OMIM:619698
HP:0001626	Abnormality of the cardiovascular system	84100	ARL6	OMIM:209900
HP:0001626	Abnormality of the cardiovascular system	79140	CCDC28B	OMIM:209900
HP:0001626	Abnormality of the cardiovascular system	582	BBS1	OMIM:209900
HP:0001626	Abnormality of the cardiovascular system	708	C1QBP	OMIM:617713
HP:0001626	Abnormality of the cardiovascular system	1201	CLN3	ORPHA:228346
HP:0001626	Abnormality of the cardiovascular system	3291	HSD11B2	ORPHA:320
HP:0001626	Abnormality of the cardiovascular system	27010	TPK1	OMIM:614458
HP:0001626	Abnormality of the cardiovascular system	51241	COX16	OMIM:619355
HP:0001626	Abnormality of the cardiovascular system	3032	HADHB	ORPHA:746
HP:0001626	Abnormality of the cardiovascular system	3030	HADHA	ORPHA:746
HP:0001626	Abnormality of the cardiovascular system	9049	AIP	OMIM:102200
HP:0001626	Abnormality of the cardiovascular system	9049	AIP	ORPHA:99725
HP:0001626	Abnormality of the cardiovascular system	10585	POMT1	ORPHA:86812
HP:0001626	Abnormality of the cardiovascular system	10651	MTX2	OMIM:619127
HP:0001626	Abnormality of the cardiovascular system	7841	MOGS	ORPHA:79330
HP:0001626	Abnormality of the cardiovascular system	57724	EPG5	OMIM:242840
HP:0001626	Abnormality of the cardiovascular system	4841	NONO	ORPHA:466791
HP:0001626	Abnormality of the cardiovascular system	55739	NAXD	OMIM:618321
HP:0001626	Abnormality of the cardiovascular system	79147	FKRP	OMIM:613153
HP:0001626	Abnormality of the cardiovascular system	644096	SDHAF1	ORPHA:3208
HP:0001626	Abnormality of the cardiovascular system	26229	B3GAT3	OMIM:245600
HP:0001626	Abnormality of the cardiovascular system	57017	COQ9	OMIM:614654
HP:0001626	Abnormality of the cardiovascular system	57592	ZNF687	OMIM:616833
HP:0001626	Abnormality of the cardiovascular system	58499	ZNF462	OMIM:618619
HP:0001626	Abnormality of the cardiovascular system	51322	WAC	ORPHA:284169
HP:0001626	Abnormality of the cardiovascular system	178	AGL	OMIM:232400
HP:0001626	Abnormality of the cardiovascular system	6125	RPL5	OMIM:612561
HP:0001626	Abnormality of the cardiovascular system	374354	NHLRC2	OMIM:618278
HP:0001626	Abnormality of the cardiovascular system	83550	GPR101	OMIM:300942
HP:0001626	Abnormality of the cardiovascular system	4511	MT-TC	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4566	MT-TK	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4577	MT-TV	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	650	BMP2	ORPHA:261295
HP:0001626	Abnormality of the cardiovascular system	51103	NDUFAF1	OMIM:618234
HP:0001626	Abnormality of the cardiovascular system	63931	MRPS14	OMIM:618378
HP:0001626	Abnormality of the cardiovascular system	3714	JAG2	OMIM:619566
HP:0001626	Abnormality of the cardiovascular system	8557	TCAP	OMIM:607487
HP:0001626	Abnormality of the cardiovascular system	84705	GTPBP3	ORPHA:444013
HP:0001626	Abnormality of the cardiovascular system	3081	HGD	ORPHA:56
HP:0001626	Abnormality of the cardiovascular system	3081	HGD	OMIM:203500
HP:0001626	Abnormality of the cardiovascular system	7707	ZNF148	OMIM:617260
HP:0001626	Abnormality of the cardiovascular system	23498	HAAO	OMIM:617660
HP:0001626	Abnormality of the cardiovascular system	127833	SYT2	OMIM:619461
HP:0001626	Abnormality of the cardiovascular system	2697	GJA1	ORPHA:2248
HP:0001626	Abnormality of the cardiovascular system	4853	NOTCH2	ORPHA:955
HP:0001626	Abnormality of the cardiovascular system	5824	PEX19	OMIM:614886
HP:0001626	Abnormality of the cardiovascular system	55191	NADSYN1	OMIM:618845
HP:0001626	Abnormality of the cardiovascular system	9451	EIF2AK3	ORPHA:1667
HP:0001626	Abnormality of the cardiovascular system	55593	OTUD5	OMIM:301056
HP:0001626	Abnormality of the cardiovascular system	4313	MMP2	ORPHA:371428
HP:0001626	Abnormality of the cardiovascular system	4323	MMP14	ORPHA:371428
HP:0001626	Abnormality of the cardiovascular system	54880	BCOR	OMIM:300166
HP:0001626	Abnormality of the cardiovascular system	285590	SH3PXD2B	OMIM:249420
HP:0001626	Abnormality of the cardiovascular system	9772	TMEM94	OMIM:618316
HP:0001626	Abnormality of the cardiovascular system	5053	PAH	ORPHA:2209
HP:0001626	Abnormality of the cardiovascular system	1062	CENPE	OMIM:616051
HP:0001626	Abnormality of the cardiovascular system	51604	PIGT	OMIM:615398
HP:0001626	Abnormality of the cardiovascular system	51604	PIGT	ORPHA:369837
HP:0001626	Abnormality of the cardiovascular system	9531	BAG3	OMIM:612954
HP:0001626	Abnormality of the cardiovascular system	2038	EPB42	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	6710	SPTB	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	6708	SPTA1	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	286	ANK1	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	8091	HMGA2	ORPHA:94063
HP:0001626	Abnormality of the cardiovascular system	7293	TNFRSF4	OMIM:615593
HP:0001626	Abnormality of the cardiovascular system	8573	CASK	OMIM:300908
HP:0001626	Abnormality of the cardiovascular system	2539	G6PD	OMIM:300908
HP:0001626	Abnormality of the cardiovascular system	55240	STEAP3	OMIM:615234
HP:0001626	Abnormality of the cardiovascular system	755	CFAP410	OMIM:602271
HP:0001626	Abnormality of the cardiovascular system	148738	HJV	OMIM:602390
HP:0001626	Abnormality of the cardiovascular system	939	CD27	OMIM:615122
HP:0001626	Abnormality of the cardiovascular system	84433	CARD11	OMIM:616452
HP:0001626	Abnormality of the cardiovascular system	84936	ZFYVE19	OMIM:619849
HP:0001626	Abnormality of the cardiovascular system	55768	NGLY1	ORPHA:404454
HP:0001626	Abnormality of the cardiovascular system	60561	RINT1	OMIM:618641
HP:0001626	Abnormality of the cardiovascular system	2859	GPR35	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	10507	SEMA4D	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	4485	MST1	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	6925	TCF4	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	103	ADAR	OMIM:615010
HP:0001626	Abnormality of the cardiovascular system	1716	DGUOK	OMIM:251880
HP:0001626	Abnormality of the cardiovascular system	1716	DGUOK	OMIM:617068
HP:0001626	Abnormality of the cardiovascular system	1441	CSF3R	OMIM:162830
HP:0001626	Abnormality of the cardiovascular system	2035	EPB41	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	2035	EPB41	OMIM:611804
HP:0001626	Abnormality of the cardiovascular system	2995	GYPC	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	1130	LYST	ORPHA:167
HP:0001626	Abnormality of the cardiovascular system	1130	LYST	OMIM:214500
HP:0001626	Abnormality of the cardiovascular system	57231	SNX14	OMIM:616354
HP:0001626	Abnormality of the cardiovascular system	28755	TRAC	OMIM:615387
HP:0001626	Abnormality of the cardiovascular system	80739	MPIG6B	OMIM:617441
HP:0001626	Abnormality of the cardiovascular system	5295	PIK3R1	OMIM:616005
HP:0001626	Abnormality of the cardiovascular system	285362	SUMF1	OMIM:272200
HP:0001626	Abnormality of the cardiovascular system	285362	SUMF1	ORPHA:585
HP:0001626	Abnormality of the cardiovascular system	2990	GUSB	ORPHA:584
HP:0001626	Abnormality of the cardiovascular system	2990	GUSB	OMIM:253220
HP:0001626	Abnormality of the cardiovascular system	11311	VPS45	OMIM:615285
HP:0001626	Abnormality of the cardiovascular system	540	ATP7B	OMIM:277900
HP:0001626	Abnormality of the cardiovascular system	540	ATP7B	ORPHA:905
HP:0001626	Abnormality of the cardiovascular system	2683	B4GALT1	ORPHA:79332
HP:0001626	Abnormality of the cardiovascular system	5692	PSMB4	OMIM:617591
HP:0001626	Abnormality of the cardiovascular system	5698	PSMB9	OMIM:617591
HP:0001626	Abnormality of the cardiovascular system	5286	PIK3C2A	OMIM:618440
HP:0001626	Abnormality of the cardiovascular system	654	BMP6	ORPHA:465508
HP:0001626	Abnormality of the cardiovascular system	3077	HFE	ORPHA:465508
HP:0001626	Abnormality of the cardiovascular system	3077	HFE	OMIM:235200
HP:0001626	Abnormality of the cardiovascular system	54532	USP53	OMIM:619658
HP:0001626	Abnormality of the cardiovascular system	51311	TLR8	OMIM:301078
HP:0001626	Abnormality of the cardiovascular system	5825	ABCD3	OMIM:616278
HP:0001626	Abnormality of the cardiovascular system	5256	PHKA2	ORPHA:264580
HP:0001626	Abnormality of the cardiovascular system	5256	PHKA2	OMIM:306000
HP:0001626	Abnormality of the cardiovascular system	5261	PHKG2	ORPHA:264580
HP:0001626	Abnormality of the cardiovascular system	5261	PHKG2	OMIM:613027
HP:0001626	Abnormality of the cardiovascular system	4594	MMUT	ORPHA:79312
HP:0001626	Abnormality of the cardiovascular system	65992	DDRGK1	OMIM:602557
HP:0001626	Abnormality of the cardiovascular system	6448	SGSH	OMIM:252900
HP:0001626	Abnormality of the cardiovascular system	22806	IKZF3	OMIM:619437
HP:0001626	Abnormality of the cardiovascular system	9842	PLEKHM1	OMIM:618107
HP:0001626	Abnormality of the cardiovascular system	6916	TBXAS1	ORPHA:1802
HP:0001626	Abnormality of the cardiovascular system	959	CD40LG	OMIM:308230
HP:0001626	Abnormality of the cardiovascular system	5009	OTC	ORPHA:664
HP:0001626	Abnormality of the cardiovascular system	7372	UMPS	ORPHA:30
HP:0001626	Abnormality of the cardiovascular system	58484	NLRC4	OMIM:616050
HP:0001626	Abnormality of the cardiovascular system	22861	NLRP1	OMIM:617388
HP:0001626	Abnormality of the cardiovascular system	55503	TRPV6	ORPHA:417
HP:0001626	Abnormality of the cardiovascular system	23218	NBEAL2	OMIM:139090
HP:0001626	Abnormality of the cardiovascular system	23218	NBEAL2	ORPHA:721
HP:0001626	Abnormality of the cardiovascular system	4125	MAN2B1	OMIM:248500
HP:0001626	Abnormality of the cardiovascular system	6718	AKR1D1	OMIM:235555
HP:0001626	Abnormality of the cardiovascular system	4864	NPC1	OMIM:257220
HP:0001626	Abnormality of the cardiovascular system	7389	UROD	ORPHA:95159
HP:0001626	Abnormality of the cardiovascular system	212	ALAS2	ORPHA:75563
HP:0001626	Abnormality of the cardiovascular system	6007	RHD	OMIM:619462
HP:0001626	Abnormality of the cardiovascular system	3560	IL2RB	OMIM:618495
HP:0001626	Abnormality of the cardiovascular system	8883	NAE1	OMIM:620210
HP:0001626	Abnormality of the cardiovascular system	84701	COX4I2	OMIM:612714
HP:0001626	Abnormality of the cardiovascular system	8943	AP3D1	OMIM:617050
HP:0001626	Abnormality of the cardiovascular system	57003	CCDC47	OMIM:618268
HP:0001626	Abnormality of the cardiovascular system	51095	TRNT1	OMIM:616084
HP:0001626	Abnormality of the cardiovascular system	83706	FERMT3	OMIM:612840
HP:0001626	Abnormality of the cardiovascular system	9420	CYP7B1	OMIM:613812
HP:0001626	Abnormality of the cardiovascular system	6023	RMRP	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	3575	IL7R	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	3575	IL7R	OMIM:608971
HP:0001626	Abnormality of the cardiovascular system	3561	IL2RG	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	84868	HAVCR2	OMIM:618398
HP:0001626	Abnormality of the cardiovascular system	60468	BACH2	OMIM:618394
HP:0001626	Abnormality of the cardiovascular system	226	ALDOA	OMIM:611881
HP:0001626	Abnormality of the cardiovascular system	3557	IL1RN	OMIM:612852
HP:0001626	Abnormality of the cardiovascular system	91662	NLRP12	OMIM:611762
HP:0001626	Abnormality of the cardiovascular system	2799	GNS	OMIM:252940
HP:0001626	Abnormality of the cardiovascular system	5264	PHYH	ORPHA:773
HP:0001626	Abnormality of the cardiovascular system	5191	PEX7	ORPHA:773
HP:0001626	Abnormality of the cardiovascular system	940	CD28	ORPHA:3162
HP:0001626	Abnormality of the cardiovascular system	940	CD28	ORPHA:2584
HP:0001626	Abnormality of the cardiovascular system	7133	TNFRSF1B	ORPHA:3162
HP:0001626	Abnormality of the cardiovascular system	7133	TNFRSF1B	ORPHA:2584
HP:0001626	Abnormality of the cardiovascular system	7390	UROS	OMIM:263700
HP:0001626	Abnormality of the cardiovascular system	7390	UROS	ORPHA:79277
HP:0001626	Abnormality of the cardiovascular system	4938	OAS1	OMIM:618042
HP:0001626	Abnormality of the cardiovascular system	8651	SOCS1	OMIM:619375
HP:0001626	Abnormality of the cardiovascular system	3295	HSD17B4	OMIM:261515
HP:0001626	Abnormality of the cardiovascular system	138050	HGSNAT	OMIM:252930
HP:0001626	Abnormality of the cardiovascular system	5313	PKLR	ORPHA:766
HP:0001626	Abnormality of the cardiovascular system	5313	PKLR	OMIM:266200
HP:0001626	Abnormality of the cardiovascular system	6850	SYK	OMIM:619381
HP:0001626	Abnormality of the cardiovascular system	613	BCR	ORPHA:521
HP:0001626	Abnormality of the cardiovascular system	5257	PHKB	OMIM:261750
HP:0001626	Abnormality of the cardiovascular system	5257	PHKB	ORPHA:79240
HP:0001626	Abnormality of the cardiovascular system	146059	CDAN1	OMIM:224120
HP:0001626	Abnormality of the cardiovascular system	9652	SKIC3	ORPHA:84064
HP:0001626	Abnormality of the cardiovascular system	9652	SKIC3	OMIM:222470
HP:0001626	Abnormality of the cardiovascular system	6499	SKIC2	ORPHA:84064
HP:0001626	Abnormality of the cardiovascular system	10535	RNASEH2A	OMIM:610333
HP:0001626	Abnormality of the cardiovascular system	5696	PSMB8	OMIM:256040
HP:0001626	Abnormality of the cardiovascular system	4669	NAGLU	OMIM:252920
HP:0001626	Abnormality of the cardiovascular system	26276	VPS33B	OMIM:620010
HP:0001626	Abnormality of the cardiovascular system	55532	SLC30A10	ORPHA:309854
HP:0001626	Abnormality of the cardiovascular system	987	LRBA	OMIM:614700
HP:0001626	Abnormality of the cardiovascular system	7174	TPP2	ORPHA:444463
HP:0001626	Abnormality of the cardiovascular system	23149	FCHO1	OMIM:619164
HP:0001626	Abnormality of the cardiovascular system	1352	COX10	OMIM:619046
HP:0001626	Abnormality of the cardiovascular system	841	CASP8	OMIM:607271
HP:0001626	Abnormality of the cardiovascular system	8647	ABCB11	OMIM:601847
HP:0001626	Abnormality of the cardiovascular system	5699	PSMB10	OMIM:619175
HP:0001626	Abnormality of the cardiovascular system	686	BTD	OMIM:253260
HP:0001626	Abnormality of the cardiovascular system	8546	AP3B1	OMIM:608233
HP:0001626	Abnormality of the cardiovascular system	10555	AGPAT2	OMIM:608594
HP:0001626	Abnormality of the cardiovascular system	56984	PSMG2	OMIM:619183
HP:0001626	Abnormality of the cardiovascular system	23230	VPS13A	ORPHA:2388
HP:0001626	Abnormality of the cardiovascular system	3782	KCNN3	ORPHA:3473
HP:0001626	Abnormality of the cardiovascular system	175	AGA	ORPHA:93
HP:0001626	Abnormality of the cardiovascular system	80216	ALPK1	OMIM:614979
HP:0001626	Abnormality of the cardiovascular system	5828	PEX2	OMIM:614866
HP:0001626	Abnormality of the cardiovascular system	2624	GATA2	ORPHA:3226
HP:0001626	Abnormality of the cardiovascular system	8813	DPM1	OMIM:608799
HP:0001626	Abnormality of the cardiovascular system	50943	FOXP3	ORPHA:37042
HP:0001626	Abnormality of the cardiovascular system	57817	HAMP	OMIM:613313
HP:0001626	Abnormality of the cardiovascular system	84317	CCDC115	OMIM:616828
HP:0001626	Abnormality of the cardiovascular system	28962	OSTM1	OMIM:259720
HP:0001626	Abnormality of the cardiovascular system	57410	SCYL1	OMIM:616719
HP:0001626	Abnormality of the cardiovascular system	219285	SAMD9L	ORPHA:2585
HP:0001626	Abnormality of the cardiovascular system	56052	ALG1	OMIM:608540
HP:0001626	Abnormality of the cardiovascular system	91949	COG7	OMIM:608779
HP:0001626	Abnormality of the cardiovascular system	7167	TPI1	OMIM:615512
HP:0001626	Abnormality of the cardiovascular system	84529	CDIN1	OMIM:615631
HP:0001626	Abnormality of the cardiovascular system	6513	SLC2A1	OMIM:612126
HP:0001626	Abnormality of the cardiovascular system	6513	SLC2A1	OMIM:608885
HP:0001626	Abnormality of the cardiovascular system	11133	KPTN	OMIM:615637
HP:0001626	Abnormality of the cardiovascular system	5293	PIK3CD	OMIM:615513
HP:0001626	Abnormality of the cardiovascular system	4173	MCM4	OMIM:609981
HP:0001626	Abnormality of the cardiovascular system	669	BPGM	OMIM:222800
HP:0001626	Abnormality of the cardiovascular system	9948	WDR1	OMIM:150550
HP:0001626	Abnormality of the cardiovascular system	4792	NFKBIA	OMIM:612132
HP:0001626	Abnormality of the cardiovascular system	169792	GLIS3	OMIM:610199
HP:0001626	Abnormality of the cardiovascular system	9076	CLDN1	ORPHA:59303
HP:0001626	Abnormality of the cardiovascular system	9076	CLDN1	OMIM:607626
HP:0001626	Abnormality of the cardiovascular system	9663	LPIN2	ORPHA:77297
HP:0001626	Abnormality of the cardiovascular system	2821	GPI	OMIM:613470
HP:0001626	Abnormality of the cardiovascular system	6097	RORC	OMIM:616622
HP:0001626	Abnormality of the cardiovascular system	9056	SLC7A7	OMIM:222700
HP:0001626	Abnormality of the cardiovascular system	57511	COG6	OMIM:614576
HP:0001626	Abnormality of the cardiovascular system	56623	INPP5E	ORPHA:1454
HP:0001626	Abnormality of the cardiovascular system	25839	COG4	OMIM:613489
HP:0001626	Abnormality of the cardiovascular system	5873	RAB27A	ORPHA:79477
HP:0001626	Abnormality of the cardiovascular system	5265	SERPINA1	OMIM:613490
HP:0001626	Abnormality of the cardiovascular system	10367	MICU1	OMIM:615673
HP:0001626	Abnormality of the cardiovascular system	3702	ITK	OMIM:613011
HP:0001626	Abnormality of the cardiovascular system	2517	FUCA1	OMIM:230000
HP:0001626	Abnormality of the cardiovascular system	5205	ATP8B1	OMIM:211600
HP:0001626	Abnormality of the cardiovascular system	2065	ERBB3	OMIM:133180
HP:0001626	Abnormality of the cardiovascular system	7040	TGFB1	ORPHA:1328
HP:0001626	Abnormality of the cardiovascular system	1718	DHCR24	ORPHA:35107
HP:0001626	Abnormality of the cardiovascular system	3098	HK1	OMIM:235700
HP:0001626	Abnormality of the cardiovascular system	100506658	OCLN	OMIM:251290
HP:0001626	Abnormality of the cardiovascular system	10577	NPC2	OMIM:607625
HP:0001626	Abnormality of the cardiovascular system	2819	GPD1	OMIM:614480
HP:0001626	Abnormality of the cardiovascular system	10020	GNE	OMIM:269921
HP:0001626	Abnormality of the cardiovascular system	26503	SLC17A5	OMIM:269920
HP:0001626	Abnormality of the cardiovascular system	27040	LAT	OMIM:617514
HP:0001626	Abnormality of the cardiovascular system	4724	NDUFS4	OMIM:252010
HP:0001626	Abnormality of the cardiovascular system	81570	CLPB	OMIM:619813
HP:0001626	Abnormality of the cardiovascular system	10464	PIBF1	OMIM:617767
HP:0001626	Abnormality of the cardiovascular system	3636	INPPL1	ORPHA:2746
HP:0001626	Abnormality of the cardiovascular system	6929	TCF3	OMIM:619824
HP:0001626	Abnormality of the cardiovascular system	2582	GALE	OMIM:230350
HP:0001626	Abnormality of the cardiovascular system	326	AIRE	OMIM:240300
HP:0001626	Abnormality of the cardiovascular system	55329	MNS1	OMIM:618948
HP:0001626	Abnormality of the cardiovascular system	284086	NEK8	OMIM:615415
HP:0001626	Abnormality of the cardiovascular system	84876	ORAI1	ORPHA:3204
HP:0001626	Abnormality of the cardiovascular system	53335	BCL11A	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	10661	KLF1	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	3047	HBG1	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	3048	HBG2	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	84314	TMEM107	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	26123	TCTN3	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	79867	TCTN2	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	80776	B9D2	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	79600	TCTN1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	57096	RPGRIP1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	79848	CSPP1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	51259	TMEM216	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	27077	B9D1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	23322	RPGRIP1L	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	7291	TWIST1	OMIM:617746
HP:0001626	Abnormality of the cardiovascular system	3921	RPSA	OMIM:271400
HP:0001626	Abnormality of the cardiovascular system	63901	FAM111A	OMIM:602361
HP:0001626	Abnormality of the cardiovascular system	537	ATP6AP1	OMIM:300972
HP:0001626	Abnormality of the cardiovascular system	55012	PPP2R3C	OMIM:618419
HP:0001626	Abnormality of the cardiovascular system	55770	EXOC2	OMIM:619306
HP:0001626	Abnormality of the cardiovascular system	53834	FGFRL1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	1487	CTBP1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	3954	LETM1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	7468	NSD2	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	10815	CPLX1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	219844	HYLS1	OMIM:236680
HP:0001626	Abnormality of the cardiovascular system	8565	YARS1	OMIM:619418
HP:0001626	Abnormality of the cardiovascular system	51715	RAB23	OMIM:201000
HP:0001626	Abnormality of the cardiovascular system	51715	RAB23	ORPHA:65759
HP:0001626	Abnormality of the cardiovascular system	1954	MEGF8	ORPHA:65759
HP:0001626	Abnormality of the cardiovascular system	50814	NSDHL	OMIM:308050
HP:0001626	Abnormality of the cardiovascular system	79770	TXNDC15	OMIM:619879
HP:0001626	Abnormality of the cardiovascular system	50628	GEMIN4	OMIM:617913
HP:0001626	Abnormality of the cardiovascular system	182	JAG1	OMIM:118450
HP:0001626	Abnormality of the cardiovascular system	5456	POU3F4	ORPHA:1435
HP:0001626	Abnormality of the cardiovascular system	2165	F13B	ORPHA:331
HP:0001626	Abnormality of the cardiovascular system	10559	SLC35A1	ORPHA:238459
HP:0001626	Abnormality of the cardiovascular system	10559	SLC35A1	OMIM:603585
HP:0001626	Abnormality of the cardiovascular system	2048	EPHB2	OMIM:618462
HP:0001626	Abnormality of the cardiovascular system	29940	DSE	ORPHA:2953
HP:0001626	Abnormality of the cardiovascular system	5155	PDGFB	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	9213	XPR1	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	5159	PDGFRB	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	57462	MYORG	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	6575	SLC20A2	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	58494	JAM2	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	1146	CHRNG	OMIM:253290
HP:0001626	Abnormality of the cardiovascular system	1144	CHRND	OMIM:253290
HP:0001626	Abnormality of the cardiovascular system	1134	CHRNA1	OMIM:253290
HP:0001626	Abnormality of the cardiovascular system	6335	SCN9A	OMIM:133020
HP:0001626	Abnormality of the cardiovascular system	1824	DSC2	OMIM:610476
HP:0001626	Abnormality of the cardiovascular system	6833	ABCC8	ORPHA:276575
HP:0001626	Abnormality of the cardiovascular system	3767	KCNJ11	ORPHA:276580
HP:0001626	Abnormality of the cardiovascular system	2642	GCGR	OMIM:619290
HP:0001626	Abnormality of the cardiovascular system	84133	ZNRF3	ORPHA:1501
HP:0001626	Abnormality of the cardiovascular system	7157	TP53	ORPHA:1501
HP:0001626	Abnormality of the cardiovascular system	55863	TMEM126B	OMIM:618250
HP:0001626	Abnormality of the cardiovascular system	4635	MYL4	OMIM:617280
HP:0001626	Abnormality of the cardiovascular system	11149	BVES	OMIM:616812
HP:0001626	Abnormality of the cardiovascular system	23479	ISCU	OMIM:255125
HP:0001626	Abnormality of the cardiovascular system	6927	HNF1A	ORPHA:324575
HP:0001626	Abnormality of the cardiovascular system	7351	UCP2	ORPHA:276556
HP:0001626	Abnormality of the cardiovascular system	356	FASLG	ORPHA:3261
HP:0001626	Abnormality of the cardiovascular system	83737	ITCH	OMIM:613385
HP:0001626	Abnormality of the cardiovascular system	83737	ITCH	ORPHA:228426
HP:0001626	Abnormality of the cardiovascular system	7289	TULP3	OMIM:619902
HP:0001626	Abnormality of the cardiovascular system	4702	NDUFA8	OMIM:619272
HP:0001626	Abnormality of the cardiovascular system	7066	THPO	ORPHA:71493
HP:0001626	Abnormality of the cardiovascular system	4558	MT-TF	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4572	MT-TQ	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4512	MT-CO1	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4513	MT-CO2	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4514	MT-CO3	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4578	MT-TW	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4540	MT-ND5	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4541	MT-ND6	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4535	MT-ND1	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4538	MT-ND4	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4567	MT-TL1	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4574	MT-TS1	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4575	MT-TS2	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4564	MT-TH	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	79717	PPCS	OMIM:618189
HP:0001626	Abnormality of the cardiovascular system	498	ATP5F1A	OMIM:616045
HP:0001626	Abnormality of the cardiovascular system	81857	MED25	OMIM:616449
HP:0001626	Abnormality of the cardiovascular system	81857	MED25	ORPHA:464738
HP:0001626	Abnormality of the cardiovascular system	3875	KRT18	OMIM:215600
HP:0001626	Abnormality of the cardiovascular system	1278	COL1A2	OMIM:259420
HP:0001626	Abnormality of the cardiovascular system	1235	CCR6	ORPHA:220402
HP:0001626	Abnormality of the cardiovascular system	1235	CCR6	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	79932	KIAA0319L	ORPHA:220402
HP:0001626	Abnormality of the cardiovascular system	1490	CCN2	ORPHA:220402
HP:0001626	Abnormality of the cardiovascular system	1490	CCN2	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	3663	IRF5	ORPHA:220402
HP:0001626	Abnormality of the cardiovascular system	3663	IRF5	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	411	ARSB	OMIM:253200
HP:0001626	Abnormality of the cardiovascular system	27125	AFF4	ORPHA:444077
HP:0001626	Abnormality of the cardiovascular system	4784	NFIX	ORPHA:447980
HP:0001626	Abnormality of the cardiovascular system	4784	NFIX	OMIM:602535
HP:0001626	Abnormality of the cardiovascular system	55315	SLC29A3	OMIM:602782
HP:0001626	Abnormality of the cardiovascular system	1349	COX7B	OMIM:300887
HP:0001626	Abnormality of the cardiovascular system	23395	LARS2	OMIM:617021
HP:0001626	Abnormality of the cardiovascular system	6440	SFTPC	OMIM:178500
HP:0001626	Abnormality of the cardiovascular system	6440	SFTPC	OMIM:610913
HP:0001626	Abnormality of the cardiovascular system	727897	MUC5B	OMIM:178500
HP:0001626	Abnormality of the cardiovascular system	729238	SFTPA2	OMIM:178500
HP:0001626	Abnormality of the cardiovascular system	51601	LIPT1	OMIM:616299
HP:0001626	Abnormality of the cardiovascular system	3908	LAMA2	ORPHA:258
HP:0001626	Abnormality of the cardiovascular system	9382	COG1	ORPHA:263508
HP:0001626	Abnormality of the cardiovascular system	1340	COX6B1	OMIM:619051
HP:0001626	Abnormality of the cardiovascular system	65082	VPS33A	ORPHA:505248
HP:0001626	Abnormality of the cardiovascular system	1351	COX8A	OMIM:619059
HP:0001626	Abnormality of the cardiovascular system	79572	ATP13A3	OMIM:265400
HP:0001626	Abnormality of the cardiovascular system	9469	CHST3	OMIM:143095
HP:0001626	Abnormality of the cardiovascular system	92579	G6PC3	OMIM:612541
HP:0001626	Abnormality of the cardiovascular system	56244	BTNL2	OMIM:612387
HP:0001626	Abnormality of the cardiovascular system	7080	NKX2-1	ORPHA:209905
HP:0001626	Abnormality of the cardiovascular system	55750	AGK	OMIM:212350
HP:0001626	Abnormality of the cardiovascular system	9377	COX5A	OMIM:619064
HP:0001626	Abnormality of the cardiovascular system	9496	TBX4	ORPHA:261279
HP:0001626	Abnormality of the cardiovascular system	9896	FIG4	ORPHA:3472
HP:0001626	Abnormality of the cardiovascular system	9896	FIG4	OMIM:216340
HP:0001626	Abnormality of the cardiovascular system	55697	VAC14	ORPHA:3472
HP:0001626	Abnormality of the cardiovascular system	3977	LIFR	OMIM:601559
HP:0001626	Abnormality of the cardiovascular system	659	BMPR2	OMIM:178600
HP:0001626	Abnormality of the cardiovascular system	659	BMPR2	OMIM:265450
HP:0001626	Abnormality of the cardiovascular system	5826	ABCD4	OMIM:614857
HP:0001626	Abnormality of the cardiovascular system	760	CA2	ORPHA:2785
HP:0001626	Abnormality of the cardiovascular system	7840	ALMS1	ORPHA:64
HP:0001626	Abnormality of the cardiovascular system	6772	STAT1	ORPHA:391487
HP:0001626	Abnormality of the cardiovascular system	10043	TOM1	ORPHA:391487
HP:0001626	Abnormality of the cardiovascular system	3572	IL6ST	OMIM:619751
HP:0001626	Abnormality of the cardiovascular system	2261	FGFR3	OMIM:616482
HP:0001626	Abnormality of the cardiovascular system	10664	CTCF	ORPHA:363611
HP:0001626	Abnormality of the cardiovascular system	29957	SLC25A24	OMIM:612289
HP:0001626	Abnormality of the cardiovascular system	8517	IKBKG	ORPHA:464
HP:0001626	Abnormality of the cardiovascular system	10269	ZMPSTE24	ORPHA:740
HP:0001626	Abnormality of the cardiovascular system	23556	PIGN	ORPHA:280633
HP:0001626	Abnormality of the cardiovascular system	3043	HBB	ORPHA:231222
HP:0001626	Abnormality of the cardiovascular system	4716	NDUFB10	OMIM:619003
HP:0001626	Abnormality of the cardiovascular system	2629	GBA1	OMIM:230800
HP:0001626	Abnormality of the cardiovascular system	2629	GBA1	ORPHA:2072
HP:0001626	Abnormality of the cardiovascular system	2629	GBA1	ORPHA:77261
HP:0001626	Abnormality of the cardiovascular system	2629	GBA1	ORPHA:77259
HP:0001626	Abnormality of the cardiovascular system	27086	FOXP1	ORPHA:391372
HP:0001626	Abnormality of the cardiovascular system	50485	SMARCAL1	ORPHA:1830
HP:0001626	Abnormality of the cardiovascular system	50485	SMARCAL1	OMIM:242900
HP:0001626	Abnormality of the cardiovascular system	8292	COLQ	ORPHA:98915
HP:0001626	Abnormality of the cardiovascular system	3913	LAMB2	ORPHA:98915
HP:0001626	Abnormality of the cardiovascular system	10551	AGR2	OMIM:620233
HP:0001626	Abnormality of the cardiovascular system	6123	RPL3L	OMIM:619371
HP:0001626	Abnormality of the cardiovascular system	8815	BANF1	OMIM:614008
HP:0001626	Abnormality of the cardiovascular system	5557	PRIM1	OMIM:620005
HP:0001626	Abnormality of the cardiovascular system	64127	NOD2	ORPHA:90340
HP:0001626	Abnormality of the cardiovascular system	55901	THSD1	OMIM:620244
HP:0001626	Abnormality of the cardiovascular system	2542	SLC37A4	OMIM:232240
HP:0001626	Abnormality of the cardiovascular system	27247	NFU1	OMIM:605711
HP:0001626	Abnormality of the cardiovascular system	8295	TRRAP	OMIM:618454
HP:0001626	Abnormality of the cardiovascular system	4093	SMAD9	OMIM:615342
HP:0001626	Abnormality of the cardiovascular system	51025	PAM16	OMIM:613320
HP:0001626	Abnormality of the cardiovascular system	23590	PDSS1	OMIM:614651
HP:0001626	Abnormality of the cardiovascular system	7319	UBE2A	ORPHA:163956
HP:0001626	Abnormality of the cardiovascular system	54938	SARS2	OMIM:613845
HP:0001626	Abnormality of the cardiovascular system	389827	MYMK	OMIM:254940
HP:0001626	Abnormality of the cardiovascular system	950	SCARB2	ORPHA:77259
HP:0001626	Abnormality of the cardiovascular system	54809	SAMD9	OMIM:617053
HP:0001626	Abnormality of the cardiovascular system	249	ALPL	OMIM:241500
HP:0001626	Abnormality of the cardiovascular system	1284	COL4A2	OMIM:614483
HP:0001626	Abnormality of the cardiovascular system	25942	SIN3A	OMIM:613406
HP:0001626	Abnormality of the cardiovascular system	6005	RHAG	OMIM:185000
HP:0001626	Abnormality of the cardiovascular system	2162	F13A1	OMIM:188050
HP:0001626	Abnormality of the cardiovascular system	3026	HABP2	OMIM:188050
HP:0001626	Abnormality of the cardiovascular system	4524	MTHFR	OMIM:188050
HP:0001626	Abnormality of the cardiovascular system	7056	THBD	OMIM:614486
HP:0001626	Abnormality of the cardiovascular system	25974	MMACHC	ORPHA:79282
HP:0001626	Abnormality of the cardiovascular system	5627	PROS1	ORPHA:743
HP:0001626	Abnormality of the cardiovascular system	5627	PROS1	OMIM:614514
HP:0001626	Abnormality of the cardiovascular system	5627	PROS1	OMIM:612336
HP:0001626	Abnormality of the cardiovascular system	207	AKT1	ORPHA:744
HP:0001626	Abnormality of the cardiovascular system	5277	PIGA	ORPHA:447
HP:0001626	Abnormality of the cardiovascular system	5354	PLP1	ORPHA:99015
HP:0001626	Abnormality of the cardiovascular system	1604	CD55	OMIM:226300
HP:0001626	Abnormality of the cardiovascular system	3762	KCNJ5	OMIM:613485
HP:0001626	Abnormality of the cardiovascular system	171023	ASXL1	ORPHA:98850
HP:0001626	Abnormality of the cardiovascular system	867	CBL	ORPHA:98850
HP:0001626	Abnormality of the cardiovascular system	861	RUNX1	ORPHA:98850
HP:0001626	Abnormality of the cardiovascular system	6427	SRSF2	ORPHA:98850
HP:0001626	Abnormality of the cardiovascular system	875	CBS	ORPHA:394
HP:0001626	Abnormality of the cardiovascular system	2811	GP1BA	ORPHA:274
HP:0001626	Abnormality of the cardiovascular system	2811	GP1BA	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	2811	GP1BA	OMIM:231200
HP:0001626	Abnormality of the cardiovascular system	2812	GP1BB	ORPHA:274
HP:0001626	Abnormality of the cardiovascular system	2812	GP1BB	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	2812	GP1BB	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	2812	GP1BB	OMIM:231200
HP:0001626	Abnormality of the cardiovascular system	2815	GP9	ORPHA:274
HP:0001626	Abnormality of the cardiovascular system	2815	GP9	OMIM:231200
HP:0001626	Abnormality of the cardiovascular system	229	ALDOB	OMIM:229600
HP:0001626	Abnormality of the cardiovascular system	5351	PLOD1	OMIM:225400
HP:0001626	Abnormality of the cardiovascular system	7148	TNXB	ORPHA:230839
HP:0001626	Abnormality of the cardiovascular system	80270	HSD3B7	ORPHA:79301
HP:0001626	Abnormality of the cardiovascular system	4072	EPCAM	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	4292	MLH1	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	5395	PMS2	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	27030	MLH3	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	22909	FAN1	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	3845	KRAS	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	5290	PIK3CA	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	2956	MSH6	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	5378	PMS1	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	4436	MSH2	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	2158	F9	OMIM:306900
HP:0001626	Abnormality of the cardiovascular system	4609	MYC	ORPHA:543
HP:0001626	Abnormality of the cardiovascular system	64218	SEMA4A	ORPHA:440437
HP:0001626	Abnormality of the cardiovascular system	657	BMPR1A	ORPHA:440437
HP:0001626	Abnormality of the cardiovascular system	657	BMPR1A	ORPHA:79076
HP:0001626	Abnormality of the cardiovascular system	6224	RPS20	ORPHA:440437
HP:0001626	Abnormality of the cardiovascular system	843	CASP10	OMIM:603909
HP:0001626	Abnormality of the cardiovascular system	7248	TSC1	ORPHA:538
HP:0001626	Abnormality of the cardiovascular system	7249	TSC2	ORPHA:538
HP:0001626	Abnormality of the cardiovascular system	2022	ENG	OMIM:187300
HP:0001626	Abnormality of the cardiovascular system	2022	ENG	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	3106	HLA-B	ORPHA:36426
HP:0001626	Abnormality of the cardiovascular system	3106	HLA-B	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	10320	IKZF1	ORPHA:36426
HP:0001626	Abnormality of the cardiovascular system	3930	LBR	OMIM:613471
HP:0001626	Abnormality of the cardiovascular system	3674	ITGA2B	ORPHA:849
HP:0001626	Abnormality of the cardiovascular system	3674	ITGA2B	OMIM:273800
HP:0001626	Abnormality of the cardiovascular system	3674	ITGA2B	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	3690	ITGB3	ORPHA:849
HP:0001626	Abnormality of the cardiovascular system	3690	ITGB3	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	7132	TNFRSF1A	OMIM:142680
HP:0001626	Abnormality of the cardiovascular system	55109	AGGF1	ORPHA:90308
HP:0001626	Abnormality of the cardiovascular system	2160	F11	ORPHA:329
HP:0001626	Abnormality of the cardiovascular system	2159	F10	ORPHA:328
HP:0001626	Abnormality of the cardiovascular system	9103	FCGR2C	ORPHA:3002
HP:0001626	Abnormality of the cardiovascular system	1312	COMT	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	221037	JMJD1C	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	6239	RREB1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	6899	TBX1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	7290	HIRA	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	9632	SEC24C	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	7353	UFD1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	421	ARVCF	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	3248	HPGD	ORPHA:2796
HP:0001626	Abnormality of the cardiovascular system	6578	SLCO2A1	ORPHA:2796
HP:0001626	Abnormality of the cardiovascular system	2155	F7	ORPHA:327
HP:0001626	Abnormality of the cardiovascular system	2153	F5	ORPHA:326
HP:0001626	Abnormality of the cardiovascular system	2153	F5	ORPHA:131
HP:0001626	Abnormality of the cardiovascular system	22827	PUF60	ORPHA:508488
HP:0001626	Abnormality of the cardiovascular system	5728	PTEN	ORPHA:79076
HP:0001626	Abnormality of the cardiovascular system	324	APC	ORPHA:873
HP:0001626	Abnormality of the cardiovascular system	7450	VWF	OMIM:193400
HP:0001626	Abnormality of the cardiovascular system	11277	TREX1	OMIM:192315
HP:0001626	Abnormality of the cardiovascular system	11277	TREX1	ORPHA:247691
HP:0001626	Abnormality of the cardiovascular system	1493	CTLA4	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	26191	PTPN22	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	3115	HLA-DPB1	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	5657	PRTN3	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	3113	HLA-DPA1	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	493856	CISD2	ORPHA:3463
HP:0001626	Abnormality of the cardiovascular system	7466	WFS1	ORPHA:3463
HP:0001626	Abnormality of the cardiovascular system	4598	MVK	ORPHA:343
HP:0001626	Abnormality of the cardiovascular system	2243	FGA	ORPHA:98881
HP:0001626	Abnormality of the cardiovascular system	2243	FGA	ORPHA:101041
HP:0001626	Abnormality of the cardiovascular system	2244	FGB	ORPHA:98881
HP:0001626	Abnormality of the cardiovascular system	2244	FGB	ORPHA:101041
HP:0001626	Abnormality of the cardiovascular system	2266	FGG	ORPHA:98881
HP:0001626	Abnormality of the cardiovascular system	2266	FGG	ORPHA:101041
HP:0001626	Abnormality of the cardiovascular system	5054	SERPINE1	ORPHA:465
HP:0001626	Abnormality of the cardiovascular system	79991	STN1	OMIM:617341
HP:0001626	Abnormality of the cardiovascular system	3998	LMAN1	ORPHA:35909
HP:0001626	Abnormality of the cardiovascular system	90411	MCFD2	ORPHA:35909
HP:0001626	Abnormality of the cardiovascular system	11231	SEC63	ORPHA:2924
HP:0001626	Abnormality of the cardiovascular system	5589	PRKCSH	ORPHA:2924
HP:0001626	Abnormality of the cardiovascular system	10165	SLC25A13	ORPHA:247598
HP:0001626	Abnormality of the cardiovascular system	3662	IRF4	ORPHA:3452
HP:0001626	Abnormality of the cardiovascular system	3516	RBPJ	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	4851	NOTCH1	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	57514	ARHGAP31	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	57572	DOCK6	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	285203	EOGT	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	54567	DLL4	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	3673	ITGA2	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	135228	CD109	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	199221	DZIP1L	ORPHA:731
HP:0001626	Abnormality of the cardiovascular system	5314	PKHD1	ORPHA:731
HP:0001626	Abnormality of the cardiovascular system	2658	GDF2	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	94	ACVRL1	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	4089	SMAD4	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	811	CALR	ORPHA:131
HP:0001626	Abnormality of the cardiovascular system	5156	PDGFRA	ORPHA:44890
HP:0001626	Abnormality of the cardiovascular system	3815	KIT	ORPHA:44890
HP:0001626	Abnormality of the cardiovascular system	2147	F2	OMIM:613679
HP:0001626	Abnormality of the cardiovascular system	79651	RHBDF2	ORPHA:2198
HP:0001626	Abnormality of the cardiovascular system	2184	FAH	OMIM:276700
HP:0001626	Abnormality of the cardiovascular system	4615	MYD88	ORPHA:33226
HP:0001626	Abnormality of the cardiovascular system	6794	STK11	ORPHA:2869
HP:0001626	Abnormality of the cardiovascular system	5167	ENPP1	ORPHA:758
HP:0001626	Abnormality of the cardiovascular system	8328	GFI1B	OMIM:187900
HP:0001626	Abnormality of the cardiovascular system	149233	IL23R	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	6775	STAT4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	3586	IL10	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	4210	MEFV	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	1230	CCR1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	355	FAS	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	3592	IL12A	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	101928376	IL12A-AS1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	7099	TLR4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	3459	IFNGR1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	720	C4A	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	337867	UBAC2	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	51752	ERAP1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	8302	KLRC4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	7456	WIPF1	ORPHA:906
HP:0001626	Abnormality of the cardiovascular system	6720	SREBF1	OMIM:158310
HP:0001626	Abnormality of the cardiovascular system	9493	KIF23	ORPHA:98870
HP:0001626	Abnormality of the cardiovascular system	29127	RACGAP1	ORPHA:98870
HP:0001626	Abnormality of the cardiovascular system	4221	MEN1	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1027	CDKN1B	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1026	CDKN1A	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1030	CDKN2B	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1031	CDKN2C	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1616	DAXX	ORPHA:100075
HP:0001626	Abnormality of the cardiovascular system	546	ATRX	ORPHA:100075
HP:0001626	Abnormality of the cardiovascular system	7454	WAS	OMIM:301000
HP:0001626	Abnormality of the cardiovascular system	60	ACTB	ORPHA:2995
HP:0001626	Abnormality of the cardiovascular system	5621	PRNP	ORPHA:282166
HP:0001626	Abnormality of the cardiovascular system	1798	DPAGT1	ORPHA:86309
HP:0001626	Abnormality of the cardiovascular system	3980	LIG3	OMIM:619780
HP:0001626	Abnormality of the cardiovascular system	54344	DPM3	ORPHA:263494
HP:0001626	Abnormality of the cardiovascular system	6786	STIM1	OMIM:185070
HP:0001626	Abnormality of the cardiovascular system	91869	RFT1	ORPHA:244310
HP:0001626	Abnormality of the cardiovascular system	23600	AMACR	ORPHA:79095
HP:0001626	Abnormality of the cardiovascular system	83483	PLVAP	OMIM:618183
HP:0001626	Abnormality of the cardiovascular system	57551	TAOK1	OMIM:619575
HP:0001626	Abnormality of the cardiovascular system	57217	TTC7A	OMIM:243150
HP:0001626	Abnormality of the cardiovascular system	26585	GREM1	ORPHA:157794
HP:0001626	Abnormality of the cardiovascular system	3587	IL10RA	OMIM:613148
HP:0001626	Abnormality of the cardiovascular system	6571	SLC18A2	ORPHA:352649
HP:0001626	Abnormality of the cardiovascular system	3155	HMGCL	ORPHA:20
HP:0001626	Abnormality of the cardiovascular system	846	CASR	ORPHA:428
HP:0001626	Abnormality of the cardiovascular system	5972	REN	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	1636	ACE	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	1639	DCTN1	ORPHA:178509
HP:0001626	Abnormality of the cardiovascular system	1644	DDC	OMIM:608643
HP:0001626	Abnormality of the cardiovascular system	3284	HSD3B2	ORPHA:90791
HP:0001626	Abnormality of the cardiovascular system	5144	PDE4D	ORPHA:439822
HP:0001626	Abnormality of the cardiovascular system	213	ALB	OMIM:616000
HP:0001626	Abnormality of the cardiovascular system	5626	PROP1	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	5626	PROP1	ORPHA:90695
HP:0001626	Abnormality of the cardiovascular system	89884	LHX4	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	3170	FOXA2	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	5449	POU1F1	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	8820	HESX1	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	5015	OTX2	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	6288	SAA1	ORPHA:85445
HP:0001626	Abnormality of the cardiovascular system	9095	TBX19	ORPHA:199296
HP:0001626	Abnormality of the cardiovascular system	56246	MRAP	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	6770	STAR	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	4158	MC2R	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	23530	NNT	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	10587	TXNRD2	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	8942	KYNU	ORPHA:79155
HP:0001626	Abnormality of the cardiovascular system	6658	SOX3	ORPHA:90695
HP:0001626	Abnormality of the cardiovascular system	2201	FBN2	OMIM:121050
HP:0001626	Abnormality of the cardiovascular system	126792	B3GALT6	ORPHA:536467
HP:0001626	Abnormality of the cardiovascular system	126792	B3GALT6	OMIM:615349
HP:0001626	Abnormality of the cardiovascular system	5238	PGM3	OMIM:615816
HP:0001626	Abnormality of the cardiovascular system	4883	NPR3	OMIM:619543
HP:0001626	Abnormality of the cardiovascular system	79576	NKAP	OMIM:301039
HP:0001626	Abnormality of the cardiovascular system	833	CARS1	OMIM:618891
HP:0001626	Abnormality of the cardiovascular system	54538	ROBO4	OMIM:618496
HP:0001626	Abnormality of the cardiovascular system	25	ABL1	OMIM:617602
HP:0001626	Abnormality of the cardiovascular system	79875	THSD4	OMIM:619825
HP:0001626	Abnormality of the cardiovascular system	29927	SEC61A1	OMIM:617056
HP:0001626	Abnormality of the cardiovascular system	8425	LTBP4	OMIM:613177
HP:0001626	Abnormality of the cardiovascular system	57167	SALL4	OMIM:607323
HP:0001626	Abnormality of the cardiovascular system	197131	UBR1	OMIM:243800
HP:0001626	Abnormality of the cardiovascular system	3110	MNX1	OMIM:176450
HP:0001626	Abnormality of the cardiovascular system	286204	CRB2	OMIM:219730
HP:0001626	Abnormality of the cardiovascular system	5193	PEX12	OMIM:614859
HP:0001626	Abnormality of the cardiovascular system	2303	FOXC2	ORPHA:33001
HP:0001626	Abnormality of the cardiovascular system	2303	FOXC2	OMIM:153400
HP:0001626	Abnormality of the cardiovascular system	3798	KIF5A	ORPHA:100991
HP:0001626	Abnormality of the cardiovascular system	57165	GJC2	ORPHA:79452
HP:0001626	Abnormality of the cardiovascular system	3931	LCAT	ORPHA:79292
HP:0001626	Abnormality of the cardiovascular system	91754	NEK9	OMIM:617022
HP:0001626	Abnormality of the cardiovascular system	23483	TGDS	OMIM:616145
HP:0001626	Abnormality of the cardiovascular system	11146	GLMN	ORPHA:83454
HP:0001626	Abnormality of the cardiovascular system	6557	SLC12A1	OMIM:601678
HP:0001626	Abnormality of the cardiovascular system	3758	KCNJ1	OMIM:241200
HP:0001626	Abnormality of the cardiovascular system	90268	OTULIN	OMIM:617099
HP:0001626	Abnormality of the cardiovascular system	331	XIAP	OMIM:308240
HP:0001626	Abnormality of the cardiovascular system	4068	SH2D1A	OMIM:308240
HP:0001626	Abnormality of the cardiovascular system	11280	SCN11A	ORPHA:90026
HP:0001626	Abnormality of the cardiovascular system	10095	ARPC1B	OMIM:617718
HP:0001626	Abnormality of the cardiovascular system	6583	SLC22A4	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	4261	CIITA	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	51744	CD244	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	4795	NFKBIL1	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	23495	TNFRSF13B	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	4790	NFKB1	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	4791	NFKB2	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	115650	TNFRSF13C	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	1380	CR2	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	8742	TNFSF12	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	930	CD19	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	29851	ICOS	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	931	MS4A1	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	975	CD81	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	359948	IRF2BP2	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	847	CAT	ORPHA:926
HP:0001626	Abnormality of the cardiovascular system	162417	NAGS	ORPHA:927
HP:0001626	Abnormality of the cardiovascular system	633	BGN	OMIM:300989
HP:0001626	Abnormality of the cardiovascular system	64170	CARD9	OMIM:212050
HP:0001626	Abnormality of the cardiovascular system	56259	CTNNBL1	OMIM:619846
HP:0001626	Abnormality of the cardiovascular system	7374	UNG	OMIM:608106
HP:0001626	Abnormality of the cardiovascular system	9636	ISG15	OMIM:616126
HP:0001626	Abnormality of the cardiovascular system	6049	RNF6	ORPHA:99977
HP:0001626	Abnormality of the cardiovascular system	9940	DLEC1	ORPHA:99977
HP:0001626	Abnormality of the cardiovascular system	57379	AICDA	OMIM:605258
HP:0001626	Abnormality of the cardiovascular system	9837	GINS1	OMIM:617827
HP:0001626	Abnormality of the cardiovascular system	51371	POMP	OMIM:618048
HP:0001626	Abnormality of the cardiovascular system	7852	CXCR4	ORPHA:51636
HP:0001626	Abnormality of the cardiovascular system	3394	IRF8	OMIM:614893
HP:0001626	Abnormality of the cardiovascular system	5896	RAG1	ORPHA:331206
HP:0001626	Abnormality of the cardiovascular system	5897	RAG2	ORPHA:331206
HP:0001626	Abnormality of the cardiovascular system	10616	RBCK1	OMIM:615895
HP:0001626	Abnormality of the cardiovascular system	5880	RAC2	OMIM:618986
HP:0001626	Abnormality of the cardiovascular system	7535	ZAP70	ORPHA:911
HP:0001626	Abnormality of the cardiovascular system	5788	PTPRC	OMIM:619924
HP:0001626	Abnormality of the cardiovascular system	958	CD40	OMIM:606843
HP:0001626	Abnormality of the cardiovascular system	1756	DMD	OMIM:300376
HP:0001626	Abnormality of the cardiovascular system	1756	DMD	OMIM:310200
HP:0001626	Abnormality of the cardiovascular system	1621	DBH	ORPHA:230
HP:0001626	Abnormality of the cardiovascular system	2395	FXN	OMIM:229300
HP:0001626	Abnormality of the cardiovascular system	128989	TANGO2	ORPHA:480864
HP:0001626	Abnormality of the cardiovascular system	8291	DYSF	ORPHA:268
HP:0001626	Abnormality of the cardiovascular system	7276	TTR	ORPHA:85451
HP:0001626	Abnormality of the cardiovascular system	1825	DSC3	OMIM:613102
HP:0001626	Abnormality of the cardiovascular system	4758	NEU1	ORPHA:93400
HP:0001626	Abnormality of the cardiovascular system	1161	ERCC8	OMIM:216400
HP:0001626	Abnormality of the cardiovascular system	55654	TMEM127	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	55654	TMEM127	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	5979	RET	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	5979	RET	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	5979	RET	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	6390	SDHB	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	6390	SDHB	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	6390	SDHB	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	6392	SDHD	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	6392	SDHD	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	6392	SDHD	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	4149	MAX	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	4149	MAX	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	1743	DLST	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	4191	MDH2	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	6389	SDHA	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	23095	KIF1B	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	2271	FH	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	8402	SLC25A11	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	54949	SDHAF2	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	4763	NF1	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	6391	SDHC	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	1788	DNMT3A	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	2034	EPAS1	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	6309	SC5D	OMIM:607330
HP:0001626	Abnormality of the cardiovascular system	1439	CSF2RB	ORPHA:264675
HP:0001626	Abnormality of the cardiovascular system	1438	CSF2RA	ORPHA:264675
HP:0001626	Abnormality of the cardiovascular system	5538	PPT1	OMIM:256730
HP:0001626	Abnormality of the cardiovascular system	54982	CLN6	OMIM:204300
HP:0001626	Abnormality of the cardiovascular system	80331	DNAJC5	OMIM:162350
HP:0001626	Abnormality of the cardiovascular system	1509	CTSD	OMIM:610127
HP:0001626	Abnormality of the cardiovascular system	2055	CLN8	ORPHA:1947
HP:0001626	Abnormality of the cardiovascular system	84818	IL17RC	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	64581	CLEC7A	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	23765	IL17RA	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	10758	TRAF3IP2	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	112744	IL17F	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	63895	PIEZO2	ORPHA:2461
HP:0001626	Abnormality of the cardiovascular system	23586	RIGI	OMIM:616298
HP:0001626	Abnormality of the cardiovascular system	85440	DOCK7	OMIM:615859
HP:0001626	Abnormality of the cardiovascular system	1024	CDK8	OMIM:618748
HP:0001626	Abnormality of the cardiovascular system	8405	SPOP	OMIM:618829
HP:0001626	Abnormality of the cardiovascular system	3021	H3-3B	OMIM:619721
HP:0001626	Abnormality of the cardiovascular system	51117	COQ4	OMIM:616276
HP:0001626	Abnormality of the cardiovascular system	2313	FLI1	ORPHA:2308
HP:0001626	Abnormality of the cardiovascular system	4286	MITF	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	7299	TYR	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	6591	SNAI2	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	1910	EDNRB	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	4254	KITLG	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	6663	SOX10	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	145173	B3GLCT	ORPHA:709
HP:0001626	Abnormality of the cardiovascular system	5080	PAX6	ORPHA:1065
HP:0001626	Abnormality of the cardiovascular system	3708	ITPR1	ORPHA:1065
HP:0001626	Abnormality of the cardiovascular system	673	BRAF	ORPHA:500
HP:0001626	Abnormality of the cardiovascular system	9968	MED12	OMIM:301068
HP:0001626	Abnormality of the cardiovascular system	2006	ELN	OMIM:185500
HP:0001626	Abnormality of the cardiovascular system	6134	RPL10	OMIM:300998
HP:0001626	Abnormality of the cardiovascular system	6134	RPL10	ORPHA:459070
HP:0001626	Abnormality of the cardiovascular system	6134	RPL10	ORPHA:435938
HP:0001626	Abnormality of the cardiovascular system	81031	SLC2A10	OMIM:208050
HP:0001626	Abnormality of the cardiovascular system	81031	SLC2A10	ORPHA:3342
HP:0001626	Abnormality of the cardiovascular system	8260	NAA10	OMIM:300855
HP:0001626	Abnormality of the cardiovascular system	8260	NAA10	ORPHA:276432
HP:0001626	Abnormality of the cardiovascular system	1272	CNTN1	OMIM:612540
HP:0001626	Abnormality of the cardiovascular system	10082	GPC6	OMIM:258315
HP:0001626	Abnormality of the cardiovascular system	9487	PIGL	OMIM:280000
HP:0001626	Abnormality of the cardiovascular system	64919	BCL11B	OMIM:617237
HP:0001626	Abnormality of the cardiovascular system	2627	GATA6	ORPHA:2255
HP:0001626	Abnormality of the cardiovascular system	2627	GATA6	OMIM:600001
HP:0001626	Abnormality of the cardiovascular system	22800	RRAS2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	8216	LZTR1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6016	RIT1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6237	RRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	5894	RAF1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	22808	MRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	200734	SPRED2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	4893	NRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6654	SOS1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6655	SOS2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	5781	PTPN11	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	5922	RASA2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	7486	WRN	ORPHA:902
HP:0001626	Abnormality of the cardiovascular system	54361	WNT4	OMIM:611812
HP:0001626	Abnormality of the cardiovascular system	9839	ZEB2	OMIM:235730
HP:0001626	Abnormality of the cardiovascular system	415	ARSL	ORPHA:79345
HP:0001626	Abnormality of the cardiovascular system	10312	TCIRG1	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	1186	CLCN7	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	29887	SNX10	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	8600	TNFSF11	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	2626	GATA4	ORPHA:251071
HP:0001626	Abnormality of the cardiovascular system	5422	POLA1	OMIM:301030
HP:0001626	Abnormality of the cardiovascular system	2623	GATA1	OMIM:190685
HP:0001626	Abnormality of the cardiovascular system	4256	MGP	ORPHA:85202
HP:0001626	Abnormality of the cardiovascular system	92002	CCNQ	ORPHA:140952
HP:0001626	Abnormality of the cardiovascular system	1482	NKX2-5	OMIM:614432
HP:0001626	Abnormality of the cardiovascular system	388015	RTL1	ORPHA:96334
HP:0001626	Abnormality of the cardiovascular system	8788	DLK1	ORPHA:96334
HP:0001626	Abnormality of the cardiovascular system	55384	MEG3	ORPHA:96334
HP:0001626	Abnormality of the cardiovascular system	1593	CYP27A1	ORPHA:909
HP:0001626	Abnormality of the cardiovascular system	3949	LDLR	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	255738	PCSK9	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	26119	LDLRAP1	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	338	APOB	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	64240	ABCG5	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	64241	ABCG8	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	4000	LMNA	ORPHA:280365
HP:0001626	Abnormality of the cardiovascular system	4000	LMNA	OMIM:176670
HP:0001626	Abnormality of the cardiovascular system	116519	APOA5	OMIM:145750
HP:0001626	Abnormality of the cardiovascular system	1071	CETP	ORPHA:79506
HP:0001626	Abnormality of the cardiovascular system	345	APOC3	ORPHA:79506
HP:0001626	Abnormality of the cardiovascular system	4023	LPL	OMIM:238600
HP:0001626	Abnormality of the cardiovascular system	4907	NT5E	OMIM:211800
HP:0001626	Abnormality of the cardiovascular system	189	AGXT	OMIM:259900
HP:0001626	Abnormality of the cardiovascular system	4352	MPL	ORPHA:729
HP:0001626	Abnormality of the cardiovascular system	3717	JAK2	ORPHA:729
HP:0001626	Abnormality of the cardiovascular system	54790	TET2	ORPHA:729
HP:0001626	Abnormality of the cardiovascular system	64131	XYLT1	OMIM:264800
HP:0001626	Abnormality of the cardiovascular system	64132	XYLT2	OMIM:264800
HP:0001626	Abnormality of the cardiovascular system	368	ABCC6	OMIM:264800
HP:0001626	Abnormality of the cardiovascular system	2321	FLT1	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	219736	STOX1	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	10699	CORIN	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	554	AVPR2	OMIM:300539
HP:0001626	Abnormality of the cardiovascular system	4846	NOS3	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	1889	ECE1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	1577	CYP3A5	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	2784	GNB3	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	8490	RGS5	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	5740	PTGIS	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	118	ADD1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	481	ATP1B1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	185	AGTR1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	183	AGT	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	1836	SLC26A2	ORPHA:56304
HP:0001626	Abnormality of the cardiovascular system	80308	FLAD1	OMIM:255100
HP:0001626	Abnormality of the cardiovascular system	29967	LRP12	OMIM:164310
HP:0001626	Abnormality of the cardiovascular system	3053	SERPIND1	OMIM:612356
HP:0001626	Abnormality of the cardiovascular system	3777	KCNK3	OMIM:615344
HP:0001626	Abnormality of the cardiovascular system	440275	EIF2AK4	ORPHA:199241
HP:0001626	Abnormality of the cardiovascular system	4629	MYH11	OMIM:619351
HP:0001626	Abnormality of the cardiovascular system	857	CAV1	OMIM:615343
HP:0001626	Abnormality of the cardiovascular system	410	ARSA	ORPHA:309271
HP:0001626	Abnormality of the cardiovascular system	3953	LEPR	ORPHA:179494
HP:0001626	Abnormality of the cardiovascular system	23317	DNAJC13	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	1981	EIF4G1	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	55737	VPS35	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	120892	LRRK2	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	26058	GIGYF2	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	3952	LEP	ORPHA:66628
HP:0001626	Abnormality of the cardiovascular system	2591	GALNT3	OMIM:211900
HP:0001626	Abnormality of the cardiovascular system	8772	FADD	OMIM:613759
HP:0001626	Abnormality of the cardiovascular system	8772	FADD	ORPHA:306550
HP:0001626	Abnormality of the cardiovascular system	118924	FRA10AC1	OMIM:620113
HP:0001626	Abnormality of the cardiovascular system	375	ARF1	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	4131	MAP1B	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	23327	NEDD4L	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	160418	TMTC3	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	10564	ARFGEF2	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	55780	ERMARD	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	2317	FLNB	OMIM:150250
HP:0001626	Abnormality of the cardiovascular system	1399	CRKL	ORPHA:261330
HP:0001626	Abnormality of the cardiovascular system	113246	C12orf57	OMIM:218340
HP:0001626	Abnormality of the cardiovascular system	6711	SPTBN1	OMIM:619475
HP:0001626	Abnormality of the cardiovascular system	10056	FARSB	OMIM:613658
HP:0001626	Abnormality of the cardiovascular system	4796	TONSL	ORPHA:93357
HP:0001626	Abnormality of the cardiovascular system	10293	TRAIP	OMIM:616777
HP:0001626	Abnormality of the cardiovascular system	10157	AASS	ORPHA:2203
HP:0001626	Abnormality of the cardiovascular system	291	SLC25A4	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	56652	TWNK	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	11232	POLG2	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	50484	RRM2B	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	151648	SGO1	OMIM:616201
HP:0001626	Abnormality of the cardiovascular system	5664	PSEN2	OMIM:613697
HP:0001626	Abnormality of the cardiovascular system	4878	NPPA	OMIM:612201
HP:0001626	Abnormality of the cardiovascular system	4519	MT-CYB	ORPHA:137675
HP:0001626	Abnormality of the cardiovascular system	7168	TPM1	OMIM:611878
HP:0001626	Abnormality of the cardiovascular system	1837	DTNA	OMIM:604169
HP:0001626	Abnormality of the cardiovascular system	7504	XK	OMIM:300842
HP:0001626	Abnormality of the cardiovascular system	57798	GATAD1	OMIM:614672
HP:0001626	Abnormality of the cardiovascular system	1760	DMPK	OMIM:160900
HP:0001626	Abnormality of the cardiovascular system	353	APRT	ORPHA:976
HP:0001626	Abnormality of the cardiovascular system	9631	NUP155	OMIM:615770
HP:0001626	Abnormality of the cardiovascular system	2702	GJA5	OMIM:614049
HP:0001626	Abnormality of the cardiovascular system	57158	JPH2	OMIM:613873
HP:0001626	Abnormality of the cardiovascular system	5350	PLN	OMIM:613874
HP:0001626	Abnormality of the cardiovascular system	91624	NEXN	OMIM:613876
HP:0001626	Abnormality of the cardiovascular system	51778	MYOZ2	OMIM:613838
HP:0001626	Abnormality of the cardiovascular system	51086	TNNI3K	OMIM:616117
HP:0001626	Abnormality of the cardiovascular system	88	ACTN2	OMIM:612158
HP:0001626	Abnormality of the cardiovascular system	284119	CAVIN1	OMIM:613327
HP:0001626	Abnormality of the cardiovascular system	6508	SLC4A3	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	7273	TTN	OMIM:604145
HP:0001626	Abnormality of the cardiovascular system	3123	HLA-DRB1	ORPHA:397
HP:0001626	Abnormality of the cardiovascular system	8974	P4HA2	ORPHA:397
HP:0001626	Abnormality of the cardiovascular system	286053	NSMCE2	OMIM:617253
HP:0001626	Abnormality of the cardiovascular system	3756	KCNH1	OMIM:135500
HP:0001626	Abnormality of the cardiovascular system	140628	GATA5	ORPHA:402075
HP:0001626	Abnormality of the cardiovascular system	4091	SMAD6	ORPHA:402075
HP:0001626	Abnormality of the cardiovascular system	5590	PRKCZ	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	2563	GABRD	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	23013	SPEN	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	8510	MMP23B	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	7798	LUZP1	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	6497	SKI	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	10630	PDPN	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	3339	HSPG2	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	10277	UBE4B	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	8514	KCNAB2	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	473	RERE	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	63976	PRDM16	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	54897	CASZ1	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	9723	SEMA3E	ORPHA:138
HP:0001626	Abnormality of the cardiovascular system	25792	CIZ1	ORPHA:420492
HP:0001626	Abnormality of the cardiovascular system	64072	CDH23	ORPHA:91347
HP:0001626	Abnormality of the cardiovascular system	1674	DES	ORPHA:98909
HP:0001626	Abnormality of the cardiovascular system	2318	FLNC	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	7137	TNNI3	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	10112	KIF20A	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	2273	FHL1	ORPHA:98863
HP:0001626	Abnormality of the cardiovascular system	2010	EMD	ORPHA:98863
HP:0001626	Abnormality of the cardiovascular system	79188	TMEM43	ORPHA:98853
HP:0001626	Abnormality of the cardiovascular system	23224	SYNE2	ORPHA:98853
HP:0001626	Abnormality of the cardiovascular system	30008	EFEMP2	OMIM:614437
HP:0001626	Abnormality of the cardiovascular system	4591	TRIM37	OMIM:253250
HP:0001626	Abnormality of the cardiovascular system	79796	ALG9	ORPHA:79328
HP:0001626	Abnormality of the cardiovascular system	60684	TRAPPC11	ORPHA:369840
HP:0001626	Abnormality of the cardiovascular system	60684	TRAPPC11	ORPHA:369847
HP:0001626	Abnormality of the cardiovascular system	96459	FNIP1	OMIM:619705
HP:0001626	Abnormality of the cardiovascular system	1000	CDH2	OMIM:618920
HP:0001626	Abnormality of the cardiovascular system	6445	SGCG	OMIM:253700
HP:0001626	Abnormality of the cardiovascular system	29119	CTNNA3	OMIM:615616
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	805	CALM2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	6910	TBX5	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3757	KCNH2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	9992	KCNE2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	9722	NOS1AP	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	10345	TRDN	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	6640	SNTA1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	859	CAV3	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	287	ANK2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	2972	BRF1	ORPHA:444072
HP:0001626	Abnormality of the cardiovascular system	80067	DCAF17	OMIM:241080
HP:0001626	Abnormality of the cardiovascular system	80067	DCAF17	ORPHA:3464
HP:0001626	Abnormality of the cardiovascular system	4204	MECP2	OMIM:312750
HP:0001626	Abnormality of the cardiovascular system	773	CACNA1A	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	6507	SLC1A3	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	477	ATP1A2	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	478	ATP1A3	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	ORPHA:37553
HP:0001626	Abnormality of the cardiovascular system	57538	ALPK3	OMIM:618052
HP:0001626	Abnormality of the cardiovascular system	221496	LEMD2	OMIM:619322
HP:0001626	Abnormality of the cardiovascular system	4607	MYBPC3	OMIM:115197
HP:0001626	Abnormality of the cardiovascular system	2717	GLA	OMIM:301500
HP:0001626	Abnormality of the cardiovascular system	26580	BSCL2	OMIM:269700
HP:0001626	Abnormality of the cardiovascular system	84665	MYPN	OMIM:615248
HP:0001626	Abnormality of the cardiovascular system	8048	CSRP3	OMIM:612124
HP:0001626	Abnormality of the cardiovascular system	123263	MTFMT	OMIM:614947
HP:0001626	Abnormality of the cardiovascular system	23345	SYNE1	OMIM:612998
HP:0001626	Abnormality of the cardiovascular system	55249	YY1AP1	OMIM:602531
HP:0001626	Abnormality of the cardiovascular system	9149	DYRK1B	OMIM:615812
HP:0001626	Abnormality of the cardiovascular system	57104	PNPLA2	ORPHA:565612
HP:0001626	Abnormality of the cardiovascular system	19	ABCA1	ORPHA:31150
HP:0001626	Abnormality of the cardiovascular system	374654	KIF7	OMIM:200990
HP:0001626	Abnormality of the cardiovascular system	10102	TSFM	OMIM:610505
HP:0001626	Abnormality of the cardiovascular system	123606	NIPA1	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	7283	TUBG1	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	81614	NIPA2	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	1654	DDX3X	OMIM:300958
HP:0001626	Abnormality of the cardiovascular system	10524	KAT5	OMIM:619103
HP:0001626	Abnormality of the cardiovascular system	55790	CSGALNACT1	OMIM:618870
HP:0001626	Abnormality of the cardiovascular system	7125	TNNC2	OMIM:620161
HP:0001626	Abnormality of the cardiovascular system	6045	RNF2	OMIM:619460
HP:0001626	Abnormality of the cardiovascular system	22884	WDR37	OMIM:618652
HP:0001626	Abnormality of the cardiovascular system	341208	HEPHL1	OMIM:261990
HP:0001626	Abnormality of the cardiovascular system	3990	LIPC	ORPHA:140905
HP:0001626	Abnormality of the cardiovascular system	5345	SERPINF2	OMIM:262850
HP:0001626	Abnormality of the cardiovascular system	5345	SERPINF2	ORPHA:79
HP:0001626	Abnormality of the cardiovascular system	5328	PLAU	OMIM:601709
HP:0001626	Abnormality of the cardiovascular system	4010	LMX1B	ORPHA:2614
HP:0001626	Abnormality of the cardiovascular system	3198	HOXA1	OMIM:601536
HP:0001626	Abnormality of the cardiovascular system	64093	SMOC1	ORPHA:1106
HP:0001626	Abnormality of the cardiovascular system	128	ADH5	OMIM:619151
HP:0001626	Abnormality of the cardiovascular system	7490	WT1	OMIM:608978
HP:0001626	Abnormality of the cardiovascular system	137814	NKX2-6	ORPHA:3384
HP:0001626	Abnormality of the cardiovascular system	23129	PLXND1	ORPHA:3384
HP:0001626	Abnormality of the cardiovascular system	1387	CREBBP	OMIM:180849
HP:0001626	Abnormality of the cardiovascular system	2033	EP300	OMIM:180849
HP:0001626	Abnormality of the cardiovascular system	54916	TMEM260	OMIM:617478
HP:0001626	Abnormality of the cardiovascular system	25981	DNAH1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	115948	ODAD3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54768	HYDIN	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	352909	DNAAF3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	27148	STK36	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	51314	NME8	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	92749	DRC1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54970	TTC12	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	152110	NEK10	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	8481	OFD1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	2302	FOXJ1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	221421	RSPH9	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	85478	CCDC65	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	55036	CCDC40	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	51364	ZMYND10	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	64446	DNAI2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	6674	SPAG1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83544	DNAL1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	89765	RSPH1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83538	ODAD4	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	200373	CFAP221	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	374407	DNAJB13	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	55172	DNAAF2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	161582	DNAAF4	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	2622	GAS8	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	23639	DNAAF11	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	27019	DNAI1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	345895	RSPH4A	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54919	DNAAF5	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	6103	RPGR	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	388389	CCDC103	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	93233	ODAD1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	93233	ODAD1	OMIM:615067
HP:0001626	Abnormality of the cardiovascular system	55130	ODAD2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	1767	DNAH5	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83861	RSPH3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	345643	MCIDAS	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	56683	CFAP298	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	79925	SPEF2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	10309	CCNO	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	115399	LRRC56	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	139212	DNAAF6	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	123872	DNAAF1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	85016	CFAP300	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	339829	CCDC39	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	8701	DNAH11	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	1770	DNAH9	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	246176	GAS2L2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	10743	RAI1	ORPHA:477817
HP:0001626	Abnormality of the cardiovascular system	10847	SRCAP	OMIM:136140
HP:0001626	Abnormality of the cardiovascular system	10847	SRCAP	ORPHA:2044
HP:0001626	Abnormality of the cardiovascular system	2187	FANCB	OMIM:314390
HP:0001626	Abnormality of the cardiovascular system	7547	ZIC3	OMIM:314390
HP:0001626	Abnormality of the cardiovascular system	55181	SMG8	OMIM:619268
HP:0001626	Abnormality of the cardiovascular system	374879	ZNF699	OMIM:619488
HP:0001626	Abnormality of the cardiovascular system	7386	UQCRFS1	OMIM:618775
HP:0001626	Abnormality of the cardiovascular system	1822	ATN1	OMIM:618494
HP:0001626	Abnormality of the cardiovascular system	4281	MID1	ORPHA:2745
HP:0001626	Abnormality of the cardiovascular system	2783	GNB2	OMIM:619503
HP:0001626	Abnormality of the cardiovascular system	8241	RBM10	ORPHA:2886
HP:0001626	Abnormality of the cardiovascular system	7703	PCGF2	OMIM:618371
HP:0001626	Abnormality of the cardiovascular system	1289	COL5A1	OMIM:619329
HP:0001626	Abnormality of the cardiovascular system	538	ATP7A	OMIM:304150
HP:0001626	Abnormality of the cardiovascular system	10526	IPO8	OMIM:619472
HP:0001626	Abnormality of the cardiovascular system	64135	IFIH1	OMIM:182250
HP:0001626	Abnormality of the cardiovascular system	10491	CRTAP	OMIM:610682
HP:0001626	Abnormality of the cardiovascular system	2657	GDF1	OMIM:613854
HP:0001626	Abnormality of the cardiovascular system	340419	RSPO2	OMIM:618021
HP:0001626	Abnormality of the cardiovascular system	2137	EXTL3	ORPHA:508533
HP:0001626	Abnormality of the cardiovascular system	9653	HS2ST1	OMIM:619194
HP:0001626	Abnormality of the cardiovascular system	10484	SEC23A	ORPHA:50814
HP:0001626	Abnormality of the cardiovascular system	10484	SEC23A	OMIM:607812
HP:0001626	Abnormality of the cardiovascular system	7474	WNT5A	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	1855	DVL1	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	2535	FZD2	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	526	ATP6V1B2	ORPHA:79500
HP:0001626	Abnormality of the cardiovascular system	57465	TBC1D24	ORPHA:79500
HP:0001626	Abnormality of the cardiovascular system	3791	KDR	OMIM:602089
HP:0001626	Abnormality of the cardiovascular system	129563	DIS3L2	ORPHA:2849
HP:0001626	Abnormality of the cardiovascular system	4914	NTRK1	OMIM:256800
HP:0001626	Abnormality of the cardiovascular system	6492	SIM1	ORPHA:369873
HP:0001626	Abnormality of the cardiovascular system	64220	STRA6	OMIM:601186
HP:0001626	Abnormality of the cardiovascular system	10568	SLC34A2	ORPHA:60025
HP:0001626	Abnormality of the cardiovascular system	4860	PNP	OMIM:613179
HP:0001626	Abnormality of the cardiovascular system	81704	DOCK8	OMIM:243700
HP:0001626	Abnormality of the cardiovascular system	10621	POLR3F	OMIM:619872
HP:0001626	Abnormality of the cardiovascular system	672	BRCA1	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	10459	MAD2L2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	7516	XRCC2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	29089	UBE2T	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	675	BRCA2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	55120	FANCL	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2177	FANCD2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2175	FANCA	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2176	FANCC	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2178	FANCE	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2188	FANCF	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2189	FANCG	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	5888	RAD51	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	5889	RAD51C	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	55159	RFWD3	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	83990	BRIP1	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	57697	FANCM	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	79728	PALB2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	84464	SLX4	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2072	ERCC4	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	55215	FANCI	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	10283	CWC27	ORPHA:166035
HP:0001626	Abnormality of the cardiovascular system	100	ADA	OMIM:102700
HP:0001626	Abnormality of the cardiovascular system	6909	TBX2	OMIM:618223
HP:0001626	Abnormality of the cardiovascular system	8085	KMT2D	OMIM:620186
HP:0001626	Abnormality of the cardiovascular system	64421	DCLRE1C	OMIM:602450
HP:0001626	Abnormality of the cardiovascular system	641	BLM	OMIM:210900
HP:0001626	Abnormality of the cardiovascular system	595	CCND1	OMIM:193300
HP:0001626	Abnormality of the cardiovascular system	5649	RELN	ORPHA:89844
HP:0001626	Abnormality of the cardiovascular system	10300	KATNB1	ORPHA:89844
HP:0001626	Abnormality of the cardiovascular system	6329	SCN4A	ORPHA:681
HP:0001626	Abnormality of the cardiovascular system	100134444	KCNJ18	ORPHA:79102
HP:0001626	Abnormality of the cardiovascular system	2556	GABRA3	ORPHA:79102
HP:0001626	Abnormality of the cardiovascular system	10560	SLC19A2	ORPHA:49827
HP:0001626	Abnormality of the cardiovascular system	161742	SPRED1	ORPHA:137605
HP:0001626	Abnormality of the cardiovascular system	26007	TKFC	OMIM:618805
HP:0001626	Abnormality of the cardiovascular system	55679	LIMS2	OMIM:616827
HP:0001626	Abnormality of the cardiovascular system	6444	SGCD	OMIM:606685
HP:0001626	Abnormality of the cardiovascular system	7169	TPM2	ORPHA:171881
HP:0001626	Abnormality of the cardiovascular system	7170	TPM3	ORPHA:171881
HP:0001626	Abnormality of the cardiovascular system	10265	IRX5	OMIM:611174
HP:0001626	Abnormality of the cardiovascular system	26092	TOR1AIP1	OMIM:617072
HP:0001626	Abnormality of the cardiovascular system	788	SLC25A20	OMIM:212138
HP:0001626	Abnormality of the cardiovascular system	7716	VEZF1	OMIM:620247
HP:0001626	Abnormality of the cardiovascular system	779	CACNA1S	ORPHA:423
HP:0001626	Abnormality of the cardiovascular system	83475	DOHH	OMIM:620066
HP:0001626	Abnormality of the cardiovascular system	7555	CNBP	OMIM:602668
HP:0001626	Abnormality of the cardiovascular system	3728	JUP	OMIM:601214
HP:0001626	Abnormality of the cardiovascular system	1804	DPP6	OMIM:612956
HP:0001626	Abnormality of the cardiovascular system	1832	DSP	OMIM:607450
HP:0001626	Abnormality of the cardiovascular system	3431	SP110	OMIM:235550
HP:0001626	Abnormality of the cardiovascular system	4634	MYL3	OMIM:608751
HP:0001626	Abnormality of the cardiovascular system	11155	LDB3	OMIM:601493
HP:0001626	Abnormality of the cardiovascular system	5573	PRKAR1A	ORPHA:615
HP:0001626	Abnormality of the cardiovascular system	5573	PRKAR1A	OMIM:255960
HP:0001626	Abnormality of the cardiovascular system	2316	FLNA	OMIM:314400
HP:0001626	Abnormality of the cardiovascular system	2737	GLI3	ORPHA:672
HP:0001626	Abnormality of the cardiovascular system	9361	LONP1	OMIM:600373
HP:0001626	Abnormality of the cardiovascular system	11198	SUPT16H	OMIM:619480
HP:0001626	Abnormality of the cardiovascular system	90416	CCDC32	OMIM:619123
HP:0001626	Abnormality of the cardiovascular system	1717	DHCR7	ORPHA:818
HP:0001626	Abnormality of the cardiovascular system	55997	CFC1	OMIM:605376
HP:0001626	Abnormality of the cardiovascular system	78987	CRELD1	OMIM:606217
HP:0001626	Abnormality of the cardiovascular system	57020	VPS35L	OMIM:619135
HP:0001626	Abnormality of the cardiovascular system	50619	DEF6	OMIM:619573
HP:0001626	Abnormality of the cardiovascular system	9939	RBM8A	OMIM:274000
HP:0001626	Abnormality of the cardiovascular system	23522	KAT6B	ORPHA:3047
HP:0001626	Abnormality of the cardiovascular system	4750	NEK1	ORPHA:2751
HP:0001626	Abnormality of the cardiovascular system	9897	WASHC5	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	28952	CCDC22	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	5566	PRKACA	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	5566	PRKACA	OMIM:619142
HP:0001626	Abnormality of the cardiovascular system	5567	PRKACB	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	5567	PRKACB	OMIM:619143
HP:0001626	Abnormality of the cardiovascular system	2735	GLI1	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	2121	EVC	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	51626	DYNC2LI1	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	51626	DYNC2LI1	OMIM:617088
HP:0001626	Abnormality of the cardiovascular system	132884	EVC2	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	7403	KDM6A	OMIM:300867
HP:0001626	Abnormality of the cardiovascular system	5587	PRKD1	OMIM:617364
HP:0001626	Abnormality of the cardiovascular system	10516	FBLN5	ORPHA:90348
HP:0001626	Abnormality of the cardiovascular system	10516	FBLN5	ORPHA:90349
HP:0001626	Abnormality of the cardiovascular system	5832	ALDH18A1	ORPHA:90348
HP:0001626	Abnormality of the cardiovascular system	4052	LTBP1	ORPHA:90349
HP:0001626	Abnormality of the cardiovascular system	54820	NDE1	ORPHA:2177
HP:0001626	Abnormality of the cardiovascular system	29925	GMPPB	ORPHA:363623
HP:0001626	Abnormality of the cardiovascular system	54914	FOCAD	OMIM:619991
HP:0001626	Abnormality of the cardiovascular system	1193	CLIC2	ORPHA:324410
HP:0001626	Abnormality of the cardiovascular system	1376	CPT2	OMIM:608836
HP:0001626	Abnormality of the cardiovascular system	5310	PKD1	OMIM:173900
HP:0001626	Abnormality of the cardiovascular system	7049	TGFBR3	ORPHA:231160
HP:0001626	Abnormality of the cardiovascular system	83854	ANGPTL6	ORPHA:231160
HP:0001626	Abnormality of the cardiovascular system	170302	ARX	ORPHA:94083
HP:0001626	Abnormality of the cardiovascular system	55275	VPS53	OMIM:615851
HP:0001626	Abnormality of the cardiovascular system	10093	ARPC4	OMIM:620141
HP:0001626	Abnormality of the cardiovascular system	5568	PRKACG	OMIM:616176
HP:0001626	Abnormality of the cardiovascular system	84342	COG8	ORPHA:95428
HP:0001626	Abnormality of the cardiovascular system	831	CAST	OMIM:616295
HP:0001626	Abnormality of the cardiovascular system	9401	RECQL4	OMIM:218600
HP:0001626	Abnormality of the cardiovascular system	4247	MGAT2	OMIM:212066
HP:0001626	Abnormality of the cardiovascular system	157570	ESCO2	OMIM:268300
HP:0001626	Abnormality of the cardiovascular system	5184	PEPD	OMIM:170100
HP:0001626	Abnormality of the cardiovascular system	10225	CD96	ORPHA:1308
HP:0001626	Abnormality of the cardiovascular system	8626	TP63	ORPHA:69085
HP:0001626	Abnormality of the cardiovascular system	80169	CTC1	OMIM:612199
HP:0001626	Abnormality of the cardiovascular system	2483	FRG1	OMIM:158900
HP:0001626	Abnormality of the cardiovascular system	29072	SETD2	OMIM:620157
HP:0001626	Abnormality of the cardiovascular system	29072	SETD2	OMIM:620155
HP:0001626	Abnormality of the cardiovascular system	5111	PCNA	ORPHA:438134
HP:0001626	Abnormality of the cardiovascular system	4536	MT-ND2	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4720	NDUFS2	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4539	MT-ND4L	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	85465	SELENOI	ORPHA:506353
HP:0001626	Abnormality of the cardiovascular system	889	KRIT1	OMIM:116860
HP:0001626	Abnormality of the cardiovascular system	7399	USH2A	OMIM:613809
HP:0001626	Abnormality of the cardiovascular system	7401	CLRN1	OMIM:614180
HP:0001626	Abnormality of the cardiovascular system	10594	PRPF8	OMIM:600059
HP:0001626	Abnormality of the cardiovascular system	25794	FSCN2	OMIM:607921
HP:0001626	Abnormality of the cardiovascular system	1121	CHM	OMIM:303100
HP:0001626	Abnormality of the cardiovascular system	4117	MAK	OMIM:614181
HP:0001626	Abnormality of the cardiovascular system	9785	DHX38	OMIM:618220
HP:0001626	Abnormality of the cardiovascular system	94137	RP1L1	OMIM:618826
HP:0001626	Abnormality of the cardiovascular system	3035	HARS1	OMIM:614504
HP:0001626	Abnormality of the cardiovascular system	6010	RHO	OMIM:613731
HP:0001626	Abnormality of the cardiovascular system	6010	RHO	ORPHA:52427
HP:0001626	Abnormality of the cardiovascular system	5145	PDE6A	OMIM:613810
HP:0001626	Abnormality of the cardiovascular system	84839	RAX2	OMIM:620102
HP:0001626	Abnormality of the cardiovascular system	130557	ZNF513	OMIM:613617
HP:0001626	Abnormality of the cardiovascular system	25914	RTTN	ORPHA:468631
HP:0001626	Abnormality of the cardiovascular system	5961	PRPH2	OMIM:608133
HP:0001626	Abnormality of the cardiovascular system	5961	PRPH2	ORPHA:52427
HP:0001626	Abnormality of the cardiovascular system	6094	ROM1	OMIM:608133
HP:0001626	Abnormality of the cardiovascular system	6101	RP1	OMIM:180100
HP:0001626	Abnormality of the cardiovascular system	3000	GUCY2D	OMIM:601777
HP:0001626	Abnormality of the cardiovascular system	3000	GUCY2D	OMIM:204000
HP:0001626	Abnormality of the cardiovascular system	6017	RLBP1	ORPHA:52427
HP:0001626	Abnormality of the cardiovascular system	5959	RDH5	ORPHA:52427
HP:0001626	Abnormality of the cardiovascular system	9227	LRAT	ORPHA:364055
HP:0001626	Abnormality of the cardiovascular system	55812	SPATA7	ORPHA:364055
HP:0001626	Abnormality of the cardiovascular system	6121	RPE65	ORPHA:364055
HP:0001626	Abnormality of the cardiovascular system	6121	RPE65	OMIM:204100
HP:0001626	Abnormality of the cardiovascular system	6121	RPE65	OMIM:613794
HP:0001626	Abnormality of the cardiovascular system	167691	LCA5	ORPHA:364055
HP:0001626	Abnormality of the cardiovascular system	64801	ARV1	OMIM:617020
HP:0001626	Abnormality of the cardiovascular system	50939	IMPG2	OMIM:613581
HP:0001626	Abnormality of the cardiovascular system	8842	PROM1	OMIM:612095
HP:0001626	Abnormality of the cardiovascular system	92211	CDHR1	OMIM:613660
HP:0001626	Abnormality of the cardiovascular system	5148	PDE6G	OMIM:613582
HP:0001626	Abnormality of the cardiovascular system	60509	AGBL5	OMIM:617023
HP:0001626	Abnormality of the cardiovascular system	3420	IDH3B	OMIM:612572
HP:0001626	Abnormality of the cardiovascular system	24148	PRPF6	OMIM:613983
HP:0001626	Abnormality of the cardiovascular system	92840	REEP6	OMIM:617304
HP:0001626	Abnormality of the cardiovascular system	9128	PRPF4	OMIM:615922
HP:0001626	Abnormality of the cardiovascular system	3419	IDH3A	OMIM:619007
HP:0001626	Abnormality of the cardiovascular system	85015	USP45	OMIM:618513
HP:0001626	Abnormality of the cardiovascular system	768206	PRCD	OMIM:610599
HP:0001626	Abnormality of the cardiovascular system	388939	PCARE	OMIM:613428
HP:0001626	Abnormality of the cardiovascular system	23020	SNRNP200	OMIM:610359
HP:0001626	Abnormality of the cardiovascular system	6742	SSBP1	OMIM:165510
HP:0001626	Abnormality of the cardiovascular system	346007	EYS	OMIM:602772
HP:0001626	Abnormality of the cardiovascular system	3105	HLA-A	ORPHA:179
HP:0001626	Abnormality of the cardiovascular system	10210	TOPORS	OMIM:609923
HP:0001626	Abnormality of the cardiovascular system	22926	ATF6	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	5146	PDE6C	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	5149	PDE6H	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	2780	GNAT2	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	1261	CNGA3	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	54714	CNGB3	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	24	ABCA4	OMIM:604116
HP:0001626	Abnormality of the cardiovascular system	24	ABCA4	OMIM:601718
HP:0001626	Abnormality of the cardiovascular system	83723	TLCD3B	OMIM:619531
HP:0001626	Abnormality of the cardiovascular system	112752	IFT43	OMIM:617871
HP:0001626	Abnormality of the cardiovascular system	7275	TUB	OMIM:616188
HP:0001626	Abnormality of the cardiovascular system	4901	NRL	OMIM:613750
HP:0001626	Abnormality of the cardiovascular system	9187	SLC24A1	OMIM:613830
HP:0001626	Abnormality of the cardiovascular system	1259	CNGA1	OMIM:613756
HP:0001626	Abnormality of the cardiovascular system	51109	RDH11	OMIM:616108
HP:0001626	Abnormality of the cardiovascular system	26504	CNNM4	OMIM:217080
HP:0001626	Abnormality of the cardiovascular system	64802	NMNAT1	OMIM:608553
HP:0001626	Abnormality of the cardiovascular system	64802	NMNAT1	OMIM:619260
HP:0001626	Abnormality of the cardiovascular system	23746	AIPL1	OMIM:604393
HP:0001626	Abnormality of the cardiovascular system	3614	IMPDH1	OMIM:180105
HP:0001626	Abnormality of the cardiovascular system	403	ARL3	OMIM:618173
HP:0001626	Abnormality of the cardiovascular system	23418	CRB1	OMIM:600105
HP:0001626	Abnormality of the cardiovascular system	23155	CLCC1	OMIM:609913
HP:0001626	Abnormality of the cardiovascular system	116150	NUS1	OMIM:617082
HP:0001626	Abnormality of the cardiovascular system	2257	FGF12	OMIM:617166
HP:0001626	Abnormality of the cardiovascular system	375298	CERKL	OMIM:608380
HP:0001626	Abnormality of the cardiovascular system	57670	KIAA1549	OMIM:618613
HP:0001626	Abnormality of the cardiovascular system	7287	TULP1	OMIM:613843
HP:0001626	Abnormality of the cardiovascular system	5995	RGR	OMIM:613769
HP:0001626	Abnormality of the cardiovascular system	5158	PDE6B	OMIM:613801
HP:0001626	Abnormality of the cardiovascular system	145226	RDH12	OMIM:612712
HP:0001626	Abnormality of the cardiovascular system	28982	FLVCR1	OMIM:609033
HP:0001626	Abnormality of the cardiovascular system	726	CAPN5	OMIM:193235
HP:0001626	Abnormality of the cardiovascular system	7439	BEST1	OMIM:193220
HP:0001626	Abnormality of the cardiovascular system	5624	PROC	OMIM:612304
HP:0001626	Abnormality of the cardiovascular system	6247	RS1	OMIM:312700
HP:0001626	Abnormality of the cardiovascular system	5925	RB1	OMIM:180200
HP:0001626	Abnormality of the cardiovascular system	8314	BAP1	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	57105	CYSLTR2	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	2776	GNAQ	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	2767	GNA11	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	23451	SF3B1	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	23137	SMC5	OMIM:620185
HP:0001626	Abnormality of the cardiovascular system	4653	MYOC	OMIM:137750
HP:0001626	Abnormality of the cardiovascular system	2296	FOXC1	OMIM:601631
HP:0001626	Abnormality of the cardiovascular system	2161	F12	ORPHA:330
HP:0001626	Abnormality of the cardiovascular system	9129	PRPF3	OMIM:601414
HP:0001626	Abnormality of the cardiovascular system	4751	NEK2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	8100	IFT88	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	762	CA4	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	196	AHR	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	1406	CRX	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	26121	PRPF31	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	10461	MERTK	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	57709	SLC7A14	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	23370	ARHGEF18	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5949	RBP3	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6100	RP9	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	10002	NR2E3	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	84140	FAM161A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55624	POMGNT1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	2979	GUCA1B	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	1258	CNGB1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55975	KLHL7	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	3617	IMPG1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6102	RP2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55857	KIZ	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6295	SAG	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	79947	DHDDS	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	4773	NFATC2	OMIM:620232
HP:0001626	Abnormality of the cardiovascular system	3458	IFNG	OMIM:613254
HP:0001626	Abnormality of the cardiovascular system	3458	IFNG	ORPHA:805
HP:0001626	Abnormality of the cardiovascular system	55553	SOX6	OMIM:618971
HP:0001626	Abnormality of the cardiovascular system	5250	SLC25A3	ORPHA:91130
HP:0001626	Abnormality of the cardiovascular system	158326	FREM1	OMIM:608980
HP:0001626	Abnormality of the cardiovascular system	653509	SFTPA1	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	21	ABCA3	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	10144	FAM13A	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	23250	ATP11A	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	91039	DPP9	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	51750	RTEL1	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	7012	TERC	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	5073	PARN	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	27130	INVS	OMIM:602088
HP:0001626	Abnormality of the cardiovascular system	25790	CFAP45	OMIM:619608
HP:0001626	Abnormality of the cardiovascular system	5337	PLD1	OMIM:212093
HP:0001626	Abnormality of the cardiovascular system	4613	MYCN	ORPHA:391641
HP:0001626	Abnormality of the cardiovascular system	4613	MYCN	OMIM:164280
HP:0001626	Abnormality of the cardiovascular system	9719	ADAMTSL2	OMIM:231050
HP:0001626	Abnormality of the cardiovascular system	6223	RPS19	OMIM:105650
HP:0001626	Abnormality of the cardiovascular system	204	AK2	ORPHA:33355
HP:0001626	Abnormality of the cardiovascular system	199857	ALG14	OMIM:619036
HP:0001626	Abnormality of the cardiovascular system	57216	VANGL2	ORPHA:563609
HP:0001626	Abnormality of the cardiovascular system	427	ASAH1	ORPHA:333
HP:0001626	Abnormality of the cardiovascular system	427	ASAH1	OMIM:228000
HP:0001626	Abnormality of the cardiovascular system	5476	CTSA	ORPHA:351
HP:0001626	Abnormality of the cardiovascular system	5476	CTSA	OMIM:256540
HP:0001626	Abnormality of the cardiovascular system	6609	SMPD1	ORPHA:77293
HP:0001626	Abnormality of the cardiovascular system	6609	SMPD1	OMIM:257200
HP:0001626	Abnormality of the cardiovascular system	3074	HEXB	ORPHA:309155
HP:0001626	Abnormality of the cardiovascular system	3074	HEXB	OMIM:268800
HP:0001626	Abnormality of the cardiovascular system	2720	GLB1	OMIM:230500
HP:0001626	Abnormality of the cardiovascular system	2720	GLB1	OMIM:230650
HP:0001626	Abnormality of the cardiovascular system	2720	GLB1	ORPHA:79255
HP:0001626	Abnormality of the cardiovascular system	79583	TMEM231	ORPHA:2752
HP:0001626	Abnormality of the cardiovascular system	3073	HEXA	OMIM:272800
HP:0001626	Abnormality of the cardiovascular system	1615	DARS1	OMIM:615281
HP:0001626	Abnormality of the cardiovascular system	2760	GM2A	ORPHA:309246
HP:0001626	Abnormality of the cardiovascular system	10730	YME1L1	OMIM:617302
HP:0001626	Abnormality of the cardiovascular system	5296	PIK3R2	OMIM:603387
HP:0001626	Abnormality of the cardiovascular system	2235	FECH	OMIM:177000
HP:0001626	Abnormality of the cardiovascular system	2235	FECH	ORPHA:79278
HP:0001626	Abnormality of the cardiovascular system	3858	KRT10	OMIM:607602
HP:0001626	Abnormality of the cardiovascular system	3848	KRT1	OMIM:620148
HP:0001626	Abnormality of the cardiovascular system	3848	KRT1	ORPHA:530838
HP:0001626	Abnormality of the cardiovascular system	362	AQP5	ORPHA:2337
HP:0001626	Abnormality of the cardiovascular system	7051	TGM1	ORPHA:281127
HP:0001626	Abnormality of the cardiovascular system	162514	TRPV3	ORPHA:659
HP:0001626	Abnormality of the cardiovascular system	64065	PERP	ORPHA:659
HP:0001626	Abnormality of the cardiovascular system	27032	ATP2C1	ORPHA:2841
HP:0001626	Abnormality of the cardiovascular system	27032	ATP2C1	OMIM:169600
HP:0001626	Abnormality of the cardiovascular system	3849	KRT2	ORPHA:455
HP:0001626	Abnormality of the cardiovascular system	26525	IL36RN	OMIM:614204
HP:0001626	Abnormality of the cardiovascular system	1508	CTSB	ORPHA:50943
HP:0001626	Abnormality of the cardiovascular system	1508	CTSB	OMIM:148370
HP:0001626	Abnormality of the cardiovascular system	2752	GLUL	OMIM:610015
HP:0001626	Abnormality of the cardiovascular system	9333	TGM5	OMIM:609796
HP:0001626	Abnormality of the cardiovascular system	9333	TGM5	ORPHA:263534
HP:0001626	Abnormality of the cardiovascular system	1174	AP1S1	OMIM:609313
HP:0001626	Abnormality of the cardiovascular system	4014	LORICRIN	ORPHA:316
HP:0001626	Abnormality of the cardiovascular system	3889	KRT83	ORPHA:316
HP:0001626	Abnormality of the cardiovascular system	242	ALOX12B	OMIM:242100
HP:0001626	Abnormality of the cardiovascular system	59344	ALOXE3	OMIM:242100
HP:0001626	Abnormality of the cardiovascular system	59344	ALOXE3	OMIM:606545
HP:0001626	Abnormality of the cardiovascular system	6820	SULT2B1	OMIM:617571
HP:0001626	Abnormality of the cardiovascular system	4035	LRP1	OMIM:604093
HP:0001626	Abnormality of the cardiovascular system	4035	LRP1	ORPHA:79100
HP:0001626	Abnormality of the cardiovascular system	3675	ITGA3	OMIM:614748
HP:0001626	Abnormality of the cardiovascular system	643418	LIPN	OMIM:613943
HP:0001626	Abnormality of the cardiovascular system	147409	DSG4	OMIM:607903
HP:0001626	Abnormality of the cardiovascular system	64377	CHST8	OMIM:616265
HP:0001626	Abnormality of the cardiovascular system	1475	CSTA	ORPHA:263534
HP:0001626	Abnormality of the cardiovascular system	4921	DDR2	OMIM:618175
HP:0001626	Abnormality of the cardiovascular system	3861	KRT14	ORPHA:79396
HP:0001626	Abnormality of the cardiovascular system	5879	RAC1	OMIM:617751
HP:0001626	Abnormality of the cardiovascular system	523	ATP6V1A	OMIM:617403
HP:0001626	Abnormality of the cardiovascular system	1857	DVL3	OMIM:616894
HP:0001626	Abnormality of the cardiovascular system	348180	CTU2	OMIM:618142
HP:0001626	Abnormality of the cardiovascular system	359	AQP2	ORPHA:223
HP:0001626	Abnormality of the cardiovascular system	1583	CYP11A1	ORPHA:289548
HP:0001626	Abnormality of the cardiovascular system	1583	CYP11A1	ORPHA:168558
HP:0001626	Abnormality of the cardiovascular system	6809	STX3	ORPHA:2290
HP:0001626	Abnormality of the cardiovascular system	4645	MYO5B	ORPHA:2290
HP:0001626	Abnormality of the cardiovascular system	1497	CTNS	ORPHA:411634
HP:0001626	Abnormality of the cardiovascular system	6774	STAT3	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	2645	GCK	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	3651	PDX1	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	3630	INS	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	219972	MPEG1	OMIM:619223
HP:0001626	Abnormality of the cardiovascular system	8737	RIPK1	OMIM:618852
HP:0001626	Abnormality of the cardiovascular system	3514	IGKC	ORPHA:183675
HP:0001626	Abnormality of the cardiovascular system	3501	IGHG2	ORPHA:183675
HP:0001626	Abnormality of the cardiovascular system	1991	ELANE	ORPHA:2686
HP:0001626	Abnormality of the cardiovascular system	4644	MYO5A	OMIM:214450
HP:0001626	Abnormality of the cardiovascular system	4953	ODC1	ORPHA:544488
HP:0001626	Abnormality of the cardiovascular system	11235	PDCD10	ORPHA:221061
HP:0001626	Abnormality of the cardiovascular system	83605	CCM2	ORPHA:221061
HP:0001626	Abnormality of the cardiovascular system	8550	MAPKAPK5	OMIM:619869
HP:0001626	Abnormality of the cardiovascular system	6597	SMARCA4	OMIM:614609
HP:0001626	Abnormality of the cardiovascular system	8802	SUCLG1	ORPHA:17
HP:0001626	Abnormality of the cardiovascular system	1802	DPH2	OMIM:620062
HP:0001626	Abnormality of the cardiovascular system	5700	PSMC1	OMIM:620071
HP:0001626	Abnormality of the cardiovascular system	5515	PPP2CA	OMIM:618354
HP:0001626	Abnormality of the cardiovascular system	23511	NUP188	OMIM:618804
HP:0001626	Abnormality of the cardiovascular system	51729	WBP11	OMIM:619227
HP:0001626	Abnormality of the cardiovascular system	374969	SVBP	OMIM:618569
HP:0001626	Abnormality of the cardiovascular system	51611	DPH5	OMIM:620070
HP:0001626	Abnormality of the cardiovascular system	1828	DSG1	OMIM:615508
HP:0001626	Abnormality of the cardiovascular system	8496	PPFIBP1	OMIM:620024
HP:0001626	Abnormality of the cardiovascular system	5718	PSMD12	ORPHA:529962
HP:0001626	Abnormality of the cardiovascular system	2186	BPTF	ORPHA:529962
HP:0001626	Abnormality of the cardiovascular system	54892	NCAPG2	OMIM:618460
HP:0001626	Abnormality of the cardiovascular system	135	ADORA2A	ORPHA:363549
HP:0001626	Abnormality of the cardiovascular system	4626	MYH8	OMIM:608837
HP:0001626	Abnormality of the cardiovascular system	26235	FBXL4	OMIM:615471
HP:0001626	Abnormality of the cardiovascular system	30061	SLC40A1	OMIM:606069
HP:0001626	Abnormality of the cardiovascular system	6926	TBX3	ORPHA:3138
HP:0001626	Abnormality of the cardiovascular system	6926	TBX3	OMIM:181450
HP:0001626	Abnormality of the cardiovascular system	7274	TTPA	ORPHA:96
HP:0001626	Abnormality of the cardiovascular system	23175	LPIN1	ORPHA:99845
HP:0001626	Abnormality of the cardiovascular system	34	ACADM	ORPHA:42
HP:0001626	Abnormality of the cardiovascular system	51567	TDP2	OMIM:616949
HP:0001626	Abnormality of the cardiovascular system	26100	WIPI2	OMIM:618453
HP:0001626	Abnormality of the cardiovascular system	54332	GDAP1	ORPHA:99944
HP:0001626	Abnormality of the cardiovascular system	267010	RNU12	OMIM:620208
HP:0001626	Abnormality of the cardiovascular system	55670	PEX26	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	8504	PEX3	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	9409	PEX16	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	8799	PEX11B	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5195	PEX14	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5192	PEX10	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	4718	NDUFC2	OMIM:619170
HP:0001626	Abnormality of the cardiovascular system	22872	SEC31A	OMIM:618651
HP:0001626	Abnormality of the cardiovascular system	4713	NDUFB7	OMIM:620135
HP:0001626	Abnormality of the cardiovascular system	3712	IVD	OMIM:243500
HP:0001626	Abnormality of the cardiovascular system	5095	PCCA	OMIM:606054
HP:0001626	Abnormality of the cardiovascular system	5096	PCCB	OMIM:606054
HP:0001626	Abnormality of the cardiovascular system	5830	PEX5	OMIM:616716
HP:0001626	Abnormality of the cardiovascular system	8318	CDC45	OMIM:617063
HP:0001626	Abnormality of the cardiovascular system	2239	GPC4	ORPHA:373
HP:0001626	Abnormality of the cardiovascular system	2719	GPC3	ORPHA:373
HP:0001626	Abnormality of the cardiovascular system	5339	PLEC	ORPHA:254361
HP:0001626	Abnormality of the cardiovascular system	128869	PIGU	OMIM:618590
HP:0001626	Abnormality of the cardiovascular system	5500	PPP1CB	OMIM:617506
HP:0001626	Abnormality of the cardiovascular system	56915	EXOSC5	OMIM:619576
HP:0001626	Abnormality of the cardiovascular system	442721	LMOD2	OMIM:619897
HP:0001626	Abnormality of the cardiovascular system	2771	GNAI2	OMIM:192605
HP:0001626	Abnormality of the cardiovascular system	246243	RNASEH1	OMIM:616479
HP:0001626	Abnormality of the cardiovascular system	220202	ATOH7	ORPHA:91495
HP:0001626	Abnormality of the cardiovascular system	5903	RANBP2	ORPHA:88619
HP:0001626	Abnormality of the cardiovascular system	1776	DNASE1L3	ORPHA:36412
HP:0001626	Abnormality of the cardiovascular system	10999	SLC27A4	OMIM:608649
HP:0001626	Abnormality of the cardiovascular system	5336	PLCG2	OMIM:614468
HP:0001626	Abnormality of the cardiovascular system	3594	IL12RB1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	23534	TNPO3	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	6689	SPIB	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	5450	POU2AF1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	9966	TNFSF15	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	79258	MMEL1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	710	SERPING1	ORPHA:100050
HP:0001626	Abnormality of the cardiovascular system	30817	ADGRE2	OMIM:125630
HP:0001626	Abnormality of the cardiovascular system	23545	ATP6V0A2	ORPHA:2834
HP:0001626	Abnormality of the cardiovascular system	23545	ATP6V0A2	OMIM:278250
HP:0001626	Abnormality of the cardiovascular system	80232	WDR26	ORPHA:513456
HP:0001626	Abnormality of the cardiovascular system	80232	WDR26	OMIM:617616
HP:0001626	Abnormality of the cardiovascular system	79989	IFT56	OMIM:619534
HP:0001626	Abnormality of the cardiovascular system	93	ACVR2B	OMIM:613751
HP:0001626	Abnormality of the cardiovascular system	220136	CFAP53	OMIM:614779
HP:0001626	Abnormality of the cardiovascular system	100128908	CIROP	OMIM:619702
HP:0001626	Abnormality of the cardiovascular system	10992	SF3B2	OMIM:164210
HP:0001626	Abnormality of the cardiovascular system	118856	MMP21	OMIM:616749
HP:0001626	Abnormality of the cardiovascular system	10525	HYOU1	OMIM:233600
HP:0001626	Abnormality of the cardiovascular system	7317	UBA1	OMIM:301054
HP:0001626	Abnormality of the cardiovascular system	79577	CDC73	ORPHA:143
HP:0001626	Abnormality of the cardiovascular system	79577	CDC73	ORPHA:99880
HP:0001626	Abnormality of the cardiovascular system	6327	SCN2B	OMIM:615378
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:113900
HP:0001626	Abnormality of the cardiovascular system	10681	GNB5	ORPHA:542306
HP:0001626	Abnormality of the cardiovascular system	23171	GPD1L	OMIM:611777
HP:0001626	Abnormality of the cardiovascular system	1188	CLCNKB	ORPHA:358
HP:0001626	Abnormality of the cardiovascular system	6559	SLC12A3	ORPHA:358
HP:0001626	Abnormality of the cardiovascular system	1829	DSG2	OMIM:610193
HP:0001626	Abnormality of the cardiovascular system	7092	TLL1	ORPHA:99106
HP:0001626	Abnormality of the cardiovascular system	3741	KCNA5	OMIM:612240
HP:0001626	Abnormality of the cardiovascular system	7139	TNNT2	OMIM:612422
HP:0001626	Abnormality of the cardiovascular system	7134	TNNC1	OMIM:613243
HP:0001626	Abnormality of the cardiovascular system	57057	TBX20	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	4624	MYH6	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	70	ACTC1	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	10370	CITED2	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	6261	RYR1	ORPHA:466650
HP:0001626	Abnormality of the cardiovascular system	23630	KCNE5	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10371	SEMA3A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	54795	TRPM4	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10021	HCN4	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10021	HCN4	OMIM:613123
HP:0001626	Abnormality of the cardiovascular system	3764	KCNJ8	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	3752	KCND3	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	3752	KCND3	OMIM:616399
HP:0001626	Abnormality of the cardiovascular system	5318	PKP2	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	7871	SLMAP	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10060	ABCC9	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	29098	RANGRF	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6336	SCN10A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10008	KCNE3	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10008	KCNE3	OMIM:613119
HP:0001626	Abnormality of the cardiovascular system	55800	SCN3B	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	55800	SCN3B	OMIM:613120
HP:0001626	Abnormality of the cardiovascular system	10142	AKAP9	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	783	CACNB2	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6337	SCNN1A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	781	CACNA2D1	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6324	SCN1B	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6324	SCN1B	OMIM:612838
HP:0001626	Abnormality of the cardiovascular system	2992	GYG1	ORPHA:263297
HP:0001626	Abnormality of the cardiovascular system	2992	GYG1	OMIM:613507
HP:0001626	Abnormality of the cardiovascular system	5428	POLG	ORPHA:94125
HP:0001626	Abnormality of the cardiovascular system	6330	SCN4B	OMIM:611819
HP:0001626	Abnormality of the cardiovascular system	801	CALM1	OMIM:616247
HP:0001626	Abnormality of the cardiovascular system	808	CALM3	OMIM:618782
HP:0001626	Abnormality of the cardiovascular system	5518	PPP2R1A	ORPHA:457284
HP:0001626	Abnormality of the cardiovascular system	79228	THOC6	ORPHA:363444
HP:0001626	Abnormality of the cardiovascular system	1581	CYP7A1	ORPHA:209902
HP:0001626	Abnormality of the cardiovascular system	4488	MSX2	ORPHA:60015
HP:0001626	Abnormality of the cardiovascular system	60529	ALX4	ORPHA:60015
HP:0001626	Abnormality of the cardiovascular system	1281	COL3A1	OMIM:130050
HP:0001626	Abnormality of the cardiovascular system	2301	FOXE3	OMIM:617349
HP:0001626	Abnormality of the cardiovascular system	2301	FOXE3	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4088	SMAD3	OMIM:613795
HP:0001626	Abnormality of the cardiovascular system	4088	SMAD3	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	11117	EMILIN1	OMIM:620080
HP:0001626	Abnormality of the cardiovascular system	5592	PRKG1	OMIM:615436
HP:0001626	Abnormality of the cardiovascular system	5592	PRKG1	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	59	ACTA2	OMIM:611788
HP:0001626	Abnormality of the cardiovascular system	59	ACTA2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4015	LOX	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4087	SMAD2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	7043	TGFB3	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	7042	TGFB2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	2200	FBN1	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4144	MAT2A	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	23493	HEY2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	8076	MFAP5	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4638	MYLK	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4638	MYLK	OMIM:613780
HP:0001626	Abnormality of the cardiovascular system	1182	CLCN3	OMIM:619512
HP:0001626	Abnormality of the cardiovascular system	1182	CLCN3	OMIM:619517
HP:0001626	Abnormality of the cardiovascular system	6477	SIAH1	OMIM:619314
HP:0001626	Abnormality of the cardiovascular system	85365	ALG2	OMIM:607906
HP:0001626	Abnormality of the cardiovascular system	51111	KMT5B	OMIM:617788
HP:0001626	Abnormality of the cardiovascular system	1641	DCX	ORPHA:2148
HP:0001626	Abnormality of the cardiovascular system	5361	PLXNA1	OMIM:619955
HP:0001626	Abnormality of the cardiovascular system	57688	ZSWIM6	OMIM:603671
HP:0001626	Abnormality of the cardiovascular system	4016	LOXL1	OMIM:177650
HP:0001626	Abnormality of the cardiovascular system	7156	TOP3A	OMIM:618098
HP:0001626	Abnormality of the cardiovascular system	37	ACADVL	OMIM:201475
HP:0001626	Abnormality of the cardiovascular system	3910	LAMA4	OMIM:615235
HP:0001626	Abnormality of the cardiovascular system	58528	RRAGD	OMIM:620152
HP:0001626	Abnormality of the cardiovascular system	388753	COA6	OMIM:616501
HP:0001626	Abnormality of the cardiovascular system	439	GET3	OMIM:620203
HP:0001626	Abnormality of the cardiovascular system	57505	AARS2	OMIM:614096
HP:0001626	Abnormality of the cardiovascular system	27235	COQ2	ORPHA:227510
HP:0001626	Abnormality of the cardiovascular system	27235	COQ2	ORPHA:98933
HP:0001626	Abnormality of the cardiovascular system	131118	DNAJC19	OMIM:610198
HP:0001626	Abnormality of the cardiovascular system	114803	MYSM1	ORPHA:508542
HP:0001626	Abnormality of the cardiovascular system	100151683	RNU4ATAC	ORPHA:353298
HP:0001626	Abnormality of the cardiovascular system	100151683	RNU4ATAC	OMIM:616651
HP:0001626	Abnormality of the cardiovascular system	2879	GPX4	ORPHA:93317
HP:0001626	Abnormality of the cardiovascular system	2879	GPX4	OMIM:250220
HP:0001626	Abnormality of the cardiovascular system	27068	PPA2	OMIM:617222
HP:0001626	Abnormality of the cardiovascular system	23474	ETHE1	ORPHA:51188
HP:0001626	Abnormality of the cardiovascular system	26160	IFT172	OMIM:619471
HP:0001626	Abnormality of the cardiovascular system	9993	DGCR2	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	8220	ESS2	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	8214	DGCR6	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	54487	DGCR8	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	1063	CENPF	OMIM:243605
HP:0001626	Abnormality of the cardiovascular system	92949	ADAMTSL1	ORPHA:521445
HP:0001626	Abnormality of the cardiovascular system	6135	RPL11	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6138	RPL15	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6229	RPS24	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6204	RPS10	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6165	RPL35A	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6232	RPS27	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6231	RPS26	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	11224	RPL35	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6160	RPL31	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6218	RPS17	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6201	RPS7	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6155	RPL27	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6154	RPL26	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6210	RPS15A	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	90121	TSR2	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6141	RPL18	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6235	RPS29	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6234	RPS28	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	7512	XPNPEP2	ORPHA:100057
HP:0001626	Abnormality of the cardiovascular system	8985	PLOD3	OMIM:612394
HP:0001626	Abnormality of the cardiovascular system	171019	ADAMTS19	OMIM:620067
HP:0001626	Abnormality of the cardiovascular system	282996	RBM20	OMIM:613172
HP:0001626	Abnormality of the cardiovascular system	29954	POMT2	OMIM:613156
HP:0001626	Abnormality of the cardiovascular system	29954	POMT2	ORPHA:206559
HP:0001626	Abnormality of the cardiovascular system	6533	SLC6A6	OMIM:145350
HP:0001626	Abnormality of the cardiovascular system	10625	IVNS1ABP	OMIM:618969
HP:0001626	Abnormality of the cardiovascular system	3932	LCK	OMIM:615758
HP:0001626	Abnormality of the cardiovascular system	462	SERPINC1	OMIM:613118
HP:0001626	Abnormality of the cardiovascular system	1545	CYP1B1	ORPHA:98977
HP:0001626	Abnormality of the cardiovascular system	7045	TGFBI	ORPHA:98964
HP:0001626	Abnormality of the cardiovascular system	3490	IGFBP7	OMIM:614224
HP:0001626	Abnormality of the cardiovascular system	2703	GJA8	OMIM:612474
HP:0001626	Abnormality of the cardiovascular system	7286	TUFT1	OMIM:607655
HP:0001626	Abnormality of the cardiovascular system	80326	WNT10A	OMIM:257980
HP:0001626	Abnormality of the cardiovascular system	51434	ANAPC7	OMIM:619699
HP:0001626	Abnormality of the cardiovascular system	2202	EFEMP1	ORPHA:75376
HP:0001626	Abnormality of the cardiovascular system	3075	CFH	ORPHA:75376
HP:0001626	Abnormality of the cardiovascular system	3426	CFI	ORPHA:75376
HP:0001626	Abnormality of the cardiovascular system	348	APOE	OMIM:603075
HP:0001626	Abnormality of the cardiovascular system	83872	HMCN1	OMIM:603075
HP:0001626	Abnormality of the cardiovascular system	3078	CFHR1	OMIM:603075
HP:0001626	Abnormality of the cardiovascular system	10878	CFHR3	OMIM:603075
HP:0001626	Abnormality of the cardiovascular system	29969	MDFIC	OMIM:620014
HP:0001626	Abnormality of the cardiovascular system	2492	FSHR	ORPHA:64739
HP:0001626	Abnormality of the cardiovascular system	5932	RBBP8	OMIM:606744
HP:0001626	Abnormality of the cardiovascular system	29998	BICRA	OMIM:619325
HP:0001626	Abnormality of the cardiovascular system	4233	MET	ORPHA:33402
HP:0001626	Abnormality of the cardiovascular system	93183	PIGM	OMIM:610293
HP:0001626	Abnormality of the cardiovascular system	84667	HES7	OMIM:613686
HP:0001626	Abnormality of the cardiovascular system	4693	NDP	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	1499	CTNNB1	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	23554	TSPAN12	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	4041	LRP5	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	79797	ZNF408	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	8322	FZD4	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	2615	LRRC32	OMIM:619074
HP:0001626	Abnormality of the cardiovascular system	7337	UBE3A	ORPHA:238446
HP:0001626	Abnormality of the cardiovascular system	23394	ADNP	ORPHA:404448
HP:0001626	Abnormality of the cardiovascular system	23394	ADNP	OMIM:615873
HP:0001626	Abnormality of the cardiovascular system	341640	FREM2	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	80144	FRAS1	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	23426	GRIP1	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	1139	CHRNA7	ORPHA:199318
HP:0001626	Abnormality of the cardiovascular system	1139	CHRNA7	OMIM:612001
HP:0001626	Abnormality of the cardiovascular system	84282	RNF135	ORPHA:137634
HP:0001626	Abnormality of the cardiovascular system	22947	DUX4L1	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	1789	DNMT3B	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	23347	SMCHD1	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	100288687	DUX4	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	6662	SOX9	ORPHA:140
HP:0001626	Abnormality of the cardiovascular system	6662	SOX9	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	55112	DYNC2I1	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	57560	IFT80	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	79659	DYNC2H1	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	89891	DYNC2I2	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	57222	ERGIC1	OMIM:208100
HP:0001626	Abnormality of the cardiovascular system	54806	AHI1	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	54806	AHI1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	153241	CEP120	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	153241	CEP120	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	95681	CEP41	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	95681	CEP41	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	2314	FLII	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	23096	IQSEC2	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	10522	DEAF1	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	1185	CLCN6	OMIM:619173
HP:0001626	Abnormality of the cardiovascular system	9184	BUB3	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	699	BUB1	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	9702	CEP57	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	701	BUB1B	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	23414	ZFPM2	ORPHA:2140
HP:0001626	Abnormality of the cardiovascular system	23414	ZFPM2	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	1501	CTNND2	ORPHA:281
HP:0001626	Abnormality of the cardiovascular system	9037	SEMA5A	ORPHA:281
HP:0001626	Abnormality of the cardiovascular system	6845	VAMP7	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	51741	WWOX	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	4214	MAP3K1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	2516	NR5A1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	58524	DMRT3	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	57647	DHX37	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	6736	SRY	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	6736	SRY	ORPHA:1772
HP:0001626	Abnormality of the cardiovascular system	190	NR0B1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	1123	CHN1	ORPHA:233
HP:0001626	Abnormality of the cardiovascular system	65250	CPLANE1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	200894	ARL13B	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	9731	CEP104	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	23247	KATNIP	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	219854	TMEM218	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	9786	KIAA0586	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	80210	ARMC9	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	23116	TOGARAM1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	25776	CBY1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	54888	NSUN2	ORPHA:235
HP:0001626	Abnormality of the cardiovascular system	392255	GDF6	OMIM:118100
HP:0001626	Abnormality of the cardiovascular system	392255	GDF6	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	10908	PNPLA6	ORPHA:2377
HP:0001626	Abnormality of the cardiovascular system	26281	FGF20	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	2674	GFRA1	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	7484	WNT9B	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	80000	GREB1L	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	10436	EMG1	ORPHA:1270
HP:0001626	Abnormality of the cardiovascular system	1749	DLX5	OMIM:183600
HP:0001626	Abnormality of the cardiovascular system	3481	IGF2	ORPHA:2128
HP:0001626	Abnormality of the cardiovascular system	10984	KCNQ1OT1	ORPHA:2128
HP:0001626	Abnormality of the cardiovascular system	5915	RARB	ORPHA:2470
HP:0001626	Abnormality of the cardiovascular system	4053	LTBP2	ORPHA:3449
HP:0001626	Abnormality of the cardiovascular system	81794	ADAMTS10	ORPHA:3449
HP:0001626	Abnormality of the cardiovascular system	9321	TRIP11	ORPHA:93299
HP:0001626	Abnormality of the cardiovascular system	10195	ALG3	ORPHA:79321
HP:0001626	Abnormality of the cardiovascular system	8726	EED	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	23512	SUZ12	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	2146	EZH2	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	1723	DHODH	ORPHA:246
HP:0001626	Abnormality of the cardiovascular system	9573	GDF3	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	4222	MEOX1	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	2245	FGD1	ORPHA:915
HP:0001626	Abnormality of the cardiovascular system	81848	SPRY4	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	23767	FLRT3	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	128674	PROKR2	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	128674	PROKR2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	79625	NDNF	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	389549	FEZF1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	1630	DCC	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	3730	ANOS1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	54756	IL17RD	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	285025	CCDC141	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	60675	PROK2	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	1848	DUSP6	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	6870	TACR3	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	55717	WDR11	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	9394	HS6ST1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	8822	FGF17	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	51621	KLF13	OMIM:612001
HP:0001626	Abnormality of the cardiovascular system	9759	HDAC4	ORPHA:1001
HP:0001626	Abnormality of the cardiovascular system	92335	STRADA	ORPHA:500533
HP:0001626	Abnormality of the cardiovascular system	5308	PITX2	ORPHA:782
HP:0001626	Abnormality of the cardiovascular system	54101	RIPK4	ORPHA:1234
HP:0001626	Abnormality of the cardiovascular system	134701	RIPPLY2	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	10683	DLL3	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	3955	LFNG	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	145873	MESP2	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	51524	TMEM138	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	23090	ZNF423	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	2707	GJB3	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	2531	KDSR	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	127534	GJB4	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	23476	BRD4	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	9126	SMC3	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	25836	NIPBL	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	55869	HDAC8	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	5885	RAD21	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	2464	FRA16E	OMIM:136570
HP:0001626	Abnormality of the cardiovascular system	71	ACTG1	OMIM:614583
HP:0001626	Abnormality of the cardiovascular system	7227	TRPS1	ORPHA:502
HP:0001626	Abnormality of the cardiovascular system	84172	POLR1B	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	9533	POLR1C	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	51082	POLR1D	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	6949	TCOF1	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	6595	SMARCA2	ORPHA:3051
HP:0001626	Abnormality of the cardiovascular system	6911	TBX6	ORPHA:1797
HP:0001626	Abnormality of the cardiovascular system	6299	SALL1	ORPHA:857
HP:0001626	Abnormality of the cardiovascular system	51339	DACT1	ORPHA:857
HP:0001626	Abnormality of the cardiovascular system	5077	PAX3	ORPHA:894
HP:0001626	Abnormality of the cardiovascular system	4621	MYH3	ORPHA:2990
HP:0001626	Abnormality of the cardiovascular system	79644	SRD5A3	ORPHA:324737
HP:0001626	Abnormality of the cardiovascular system	6657	SOX2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	9915	ARNT2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	121340	SP7	OMIM:613849
HP:0001626	Abnormality of the cardiovascular system	57534	MIB1	OMIM:615092
HP:0001626	Abnormality of the cardiovascular system	4285	MIPEP	OMIM:617228
HP:0001626	Abnormality of the cardiovascular system	57176	VARS2	OMIM:615917
HP:0001626	Abnormality of the cardiovascular system	1906	EDN1	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	5332	PLCB4	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	2773	GNAI3	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	55388	MCM10	OMIM:619313
HP:0001626	Abnormality of the cardiovascular system	8777	MPDZ	OMIM:615219
HP:0001626	Abnormality of the cardiovascular system	745	MYRF	OMIM:618280
HP:0001626	Abnormality of the cardiovascular system	2294	FOXF1	OMIM:265380
HP:0001626	Abnormality of the cardiovascular system	55636	CHD7	OMIM:214800
HP:0001626	Abnormality of the cardiovascular system	6885	MAP3K7	OMIM:157800
HP:0001626	Abnormality of the cardiovascular system	7046	TGFBR1	OMIM:609192
HP:0001626	Abnormality of the cardiovascular system	7048	TGFBR2	OMIM:610168
HP:0001626	Abnormality of the cardiovascular system	2157	F8	ORPHA:169805
HP:0001626	Abnormality of the cardiovascular system	4774	NFIA	ORPHA:401986
HP:0001626	Abnormality of the cardiovascular system	55788	LMBRD1	ORPHA:79284
HP:0001626	Abnormality of the cardiovascular system	284058	KANSL1	ORPHA:363965
HP:0001626	Abnormality of the cardiovascular system	284058	KANSL1	ORPHA:363958
HP:0001626	Abnormality of the cardiovascular system	6678	SPARC	OMIM:616507
HP:0001626	Abnormality of the cardiovascular system	165918	RNF168	ORPHA:420741
HP:0001626	Abnormality of the cardiovascular system	100131801	PET100	OMIM:619055
HP:0001626	Abnormality of the cardiovascular system	92935	MARS2	OMIM:616430
HP:0001626	Abnormality of the cardiovascular system	208	AKT2	ORPHA:293964
HP:0001626	Abnormality of the cardiovascular system	3559	IL2RA	OMIM:606367
HP:0001626	Abnormality of the cardiovascular system	1738	DLD	ORPHA:2394
HP:0001626	Abnormality of the cardiovascular system	2070	EYA4	ORPHA:217622
HP:0001626	Abnormality of the cardiovascular system	54941	RNF125	OMIM:616260
HP:0001626	Abnormality of the cardiovascular system	6696	SPP1	ORPHA:93552
HP:0001626	Abnormality of the cardiovascular system	3654	IRAK1	ORPHA:93552
HP:0001626	Abnormality of the cardiovascular system	84153	RNASEH2C	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	25939	SAMHD1	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	79621	RNASEH2B	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	134353	LSM11	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	6521	SLC4A1	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	9780	PIEZO1	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	3783	KCNN4	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	6472	SHMT2	OMIM:619121
HP:0001626	Abnormality of the cardiovascular system	4137	MAPT	ORPHA:240071
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	OMIM:191900
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	OMIM:148200
HP:0001626	Abnormality of the cardiovascular system	164	AP1G1	OMIM:619548
HP:0001626	Abnormality of the cardiovascular system	9894	TELO2	ORPHA:488642
HP:0001626	Abnormality of the cardiovascular system	90417	KNSTRN	ORPHA:221139
HP:0001626	Abnormality of the cardiovascular system	3852	KRT5	ORPHA:158681
HP:0001626	Abnormality of the cardiovascular system	3852	KRT5	OMIM:609352
HP:0001626	Abnormality of the cardiovascular system	23676	SMPX	OMIM:301075
HP:0001626	Abnormality of the cardiovascular system	22845	DOLK	ORPHA:91131
HP:0001626	Abnormality of the cardiovascular system	493753	COA5	OMIM:616500
HP:0001626	Abnormality of the cardiovascular system	56006	SMG9	OMIM:619995
HP:0001626	Abnormality of the cardiovascular system	5551	PRF1	ORPHA:88
HP:0001626	Abnormality of the cardiovascular system	5551	PRF1	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	51206	GP6	OMIM:614201
HP:0001626	Abnormality of the cardiovascular system	6915	TBXA2R	OMIM:614009
HP:0001626	Abnormality of the cardiovascular system	3257	HPS1	OMIM:203300
HP:0001626	Abnormality of the cardiovascular system	64805	P2RY12	OMIM:609821
HP:0001626	Abnormality of the cardiovascular system	8676	STX11	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	201294	UNC13D	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	6813	STXBP2	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	5371	PML	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	5914	RARA	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	81608	FIP1L1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	64859	NABP1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	6777	STAT5B	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	4926	NUMA1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	7704	ZBTB16	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	79718	TBL1XR1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	79803	HPS6	OMIM:614075
HP:0001626	Abnormality of the cardiovascular system	55340	GIMAP5	OMIM:619463
HP:0001626	Abnormality of the cardiovascular system	4537	MT-ND3	ORPHA:255210
HP:0001626	Abnormality of the cardiovascular system	58	ACTA1	ORPHA:97244
HP:0001626	Abnormality of the cardiovascular system	25915	NDUFAF3	ORPHA:70474
HP:0001626	Abnormality of the cardiovascular system	4714	NDUFB8	ORPHA:70474
HP:0001626	Abnormality of the cardiovascular system	9997	SCO2	ORPHA:70474
HP:0001626	Abnormality of the cardiovascular system	6834	SURF1	ORPHA:70474
HP:0001626	Abnormality of the cardiovascular system	2131	EXT1	ORPHA:321
HP:0001626	Abnormality of the cardiovascular system	2132	EXT2	ORPHA:321
HP:0001626	Abnormality of the cardiovascular system	5236	PGM1	OMIM:614921
HP:0001626	Abnormality of the cardiovascular system	775	CACNA1C	OMIM:618447
HP:0001626	Abnormality of the cardiovascular system	6262	RYR2	OMIM:115000
HP:0001626	Abnormality of the cardiovascular system	51422	PRKAG2	OMIM:600858
HP:0001626	Abnormality of the cardiovascular system	55033	FKBP14	OMIM:614557
HP:0001626	Abnormality of the cardiovascular system	79158	GNPTAB	ORPHA:576
HP:0001626	Abnormality of the cardiovascular system	1277	COL1A1	ORPHA:287
HP:0001626	Abnormality of the cardiovascular system	1290	COL5A2	ORPHA:287
HP:0001626	Abnormality of the cardiovascular system	4633	MYL2	OMIM:608758
HP:0001626	Abnormality of the cardiovascular system	54800	KLHL24	OMIM:620236
HP:0001626	Abnormality of the cardiovascular system	4625	MYH7	OMIM:255160
HP:0001626	Abnormality of the cardiovascular system	7528	YY1	OMIM:617557
HP:0001626	Abnormality of the cardiovascular system	168507	PKD1L1	OMIM:617205
HP:0001626	Abnormality of the cardiovascular system	8854	ALDH1A2	OMIM:620025
HP:0001626	Abnormality of the cardiovascular system	2324	FLT4	OMIM:618780
HP:0001626	Abnormality of the cardiovascular system	4351	MPI	OMIM:602579
HP:0001626	Abnormality of the cardiovascular system	3265	HRAS	OMIM:218040
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	28514	DLL1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	28514	DLL1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	28514	DLL1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	28514	DLL1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	10735	STAG2	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	10735	STAG2	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	8243	SMC1A	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	6496	SIX3	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	6496	SIX3	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	6496	SIX3	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	6496	SIX3	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	7050	TGIF1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	7050	TGIF1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	7050	TGIF1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	7050	TGIF1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	4838	NODAL	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	4838	NODAL	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	4838	NODAL	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	4838	NODAL	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	6469	SHH	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	6469	SHH	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	6469	SHH	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	6469	SHH	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	7546	ZIC2	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	7546	ZIC2	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	7546	ZIC2	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	7546	ZIC2	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	2619	GAS1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	2619	GAS1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	2619	GAS1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	2619	GAS1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	84976	DISP1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	84976	DISP1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	84976	DISP1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	84976	DISP1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	2736	GLI2	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	2736	GLI2	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	2736	GLI2	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	2736	GLI2	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	8928	FOXH1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	8928	FOXH1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	8928	FOXH1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	8928	FOXH1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	5727	PTCH1	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	5727	PTCH1	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	5727	PTCH1	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	5727	PTCH1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	50937	CDON	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	50937	CDON	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	50937	CDON	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	50937	CDON	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	23007	PLCH1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	2581	GALC	ORPHA:206436
HP:0001626	Abnormality of the cardiovascular system	5660	PSAP	ORPHA:206436
HP:0001626	Abnormality of the cardiovascular system	8567	MADD	OMIM:619004
HP:0001626	Abnormality of the cardiovascular system	8567	MADD	OMIM:619005
HP:0001626	Abnormality of the cardiovascular system	8929	PHOX2B	OMIM:209880
HP:0001626	Abnormality of the cardiovascular system	776	CACNA1D	OMIM:614896
HP:0001626	Abnormality of the cardiovascular system	26040	SETBP1	OMIM:269150
HP:0001626	Abnormality of the cardiovascular system	2548	GAA	ORPHA:308552
HP:0001626	Abnormality of the cardiovascular system	23118	TAB2	OMIM:614980
HP:0001626	Abnormality of the cardiovascular system	7414	VCL	OMIM:613255
HP:0001626	Abnormality of the cardiovascular system	7026	NR2F2	OMIM:615779
HP:0001626	Abnormality of the cardiovascular system	100147744	RNU7-1	OMIM:619487
HP:0001626	Abnormality of the cardiovascular system	79709	COLGALT1	OMIM:618360
HP:0001626	Abnormality of the cardiovascular system	6452	SH3BP2	OMIM:118400
HP:0001626	Abnormality of the cardiovascular system	6439	SFTPB	OMIM:265120
HP:0001626	Abnormality of the cardiovascular system	6868	ADAM17	OMIM:614328
HP:0001626	Abnormality of the cardiovascular system	55630	SLC39A4	OMIM:201100
HP:0001626	Abnormality of the cardiovascular system	57152	SLURP1	OMIM:248300
HP:0001626	Abnormality of the cardiovascular system	51360	MBTPS2	OMIM:308205
HP:0001626	Abnormality of the cardiovascular system	340061	STING1	OMIM:615934
HP:0001626	Abnormality of the cardiovascular system	490	ATP2B1	OMIM:619910
HP:0001626	Abnormality of the cardiovascular system	3718	JAK3	OMIM:600802
HP:0001626	Abnormality of the cardiovascular system	1410	CRYAB	OMIM:615184
HP:0001626	Abnormality of the cardiovascular system	9529	BAG5	OMIM:619747
HP:0001626	Abnormality of the cardiovascular system	2218	FKTN	OMIM:611615
HP:0001626	Abnormality of the cardiovascular system	545	ATR	OMIM:614564
HP:0001626	Abnormality of the cardiovascular system	51816	ADA2	OMIM:182410
HP:0001626	Abnormality of the cardiovascular system	5426	POLE	OMIM:618336
HP:0001626	Abnormality of the cardiovascular system	5426	POLE	OMIM:615139
HP:0001626	Abnormality of the cardiovascular system	9620	CELSR1	OMIM:619319
HP:0001626	Abnormality of the cardiovascular system	3988	LIPA	OMIM:278000
HP:0001626	Abnormality of the cardiovascular system	845	CASQ2	OMIM:604772
HP:0001626	Abnormality of the cardiovascular system	253017	TECRL	OMIM:614021
HP:0001626	Abnormality of the cardiovascular system	1725	DHPS	OMIM:618480
HP:0001626	Abnormality of the cardiovascular system	5429	POLH	OMIM:278750
HP:0001626	Abnormality of the cardiovascular system	1314	COPA	OMIM:616414
HP:0001626	Abnormality of the cardiovascular system	57169	ZNFX1	OMIM:619644
HP:0001626	Abnormality of the cardiovascular system	89970	RSPRY1	ORPHA:457395
HP:0001626	Abnormality of the cardiovascular system	51341	ZBTB7A	OMIM:619769
HP:0001626	Abnormality of the cardiovascular system	29123	ANKRD11	ORPHA:2332
HP:0001626	Abnormality of the cardiovascular system	23299	BICD2	OMIM:618291
HP:0001626	Abnormality of the cardiovascular system	2639	GCDH	ORPHA:25
HP:0001626	Abnormality of the cardiovascular system	1785	DNM2	OMIM:615368
HP:0001626	Abnormality of the cardiovascular system	2074	ERCC6	ORPHA:90324
HP:0001626	Abnormality of the cardiovascular system	3703	STT3A	OMIM:619714
HP:0001626	Abnormality of the cardiovascular system	25802	LMOD1	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	72	ACTG2	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	4854	NOTCH3	ORPHA:136
HP:0001626	Abnormality of the cardiovascular system	5116	PCNT	ORPHA:2637
HP:0001626	Abnormality of the cardiovascular system	3593	IL12B	ORPHA:3287
HP:0001626	Abnormality of the cardiovascular system	6945	MLX	ORPHA:3287
HP:0001626	Abnormality of the cardiovascular system	151188	ARL6IP6	ORPHA:1556
HP:0001626	Abnormality of the cardiovascular system	5654	HTRA1	OMIM:600142
HP:0001626	Abnormality of the cardiovascular system	165	AEBP1	ORPHA:536532
HP:0001626	Abnormality of the cardiovascular system	165	AEBP1	OMIM:618000
HP:0001626	Abnormality of the cardiovascular system	10483	SEC23B	ORPHA:201
HP:0001626	Abnormality of the cardiovascular system	205717	USF3	ORPHA:201
HP:0001626	Abnormality of the cardiovascular system	100144748	KLLN	ORPHA:201
HP:0001626	Abnormality of the cardiovascular system	64840	PORCN	ORPHA:2092
HP:0001626	Abnormality of the cardiovascular system	55699	IARS2	OMIM:616007
HP:0001626	Abnormality of the cardiovascular system	118429	ANTXR2	ORPHA:2176
HP:0001626	Abnormality of the cardiovascular system	7518	XRCC4	ORPHA:99812
HP:0001626	Abnormality of the cardiovascular system	3981	LIG4	ORPHA:99812
HP:0001626	Abnormality of the cardiovascular system	1540	CYLD	ORPHA:867
HP:0001626	Abnormality of the cardiovascular system	1540	CYLD	ORPHA:211
HP:0001626	Abnormality of the cardiovascular system	11322	TMC6	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	3574	IL7	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	147138	TMC8	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	10519	CIB1	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	472	ATM	ORPHA:100
HP:0001626	Abnormality of the cardiovascular system	63916	ELMO2	ORPHA:3019
HP:0001626	Abnormality of the cardiovascular system	55612	FERMT1	OMIM:173650
HP:0001626	Abnormality of the cardiovascular system	4668	NAGA	ORPHA:79280
HP:0001626	Abnormality of the cardiovascular system	4668	NAGA	ORPHA:79279
HP:0001626	Abnormality of the cardiovascular system	5424	POLD1	OMIM:615381
HP:0001626	Abnormality of the cardiovascular system	26277	TINF2	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55651	NHP2	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	79650	USB1	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55135	WRAP53	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	4869	NPM1	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55505	NOP10	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	1736	DKC1	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	7298	TYMS	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	2068	ERCC2	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	7507	XPA	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	2071	ERCC3	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	7508	XPC	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	1643	DDB2	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	2073	ERCC5	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	9820	CUL7	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	23363	OBSL1	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	83987	CCDC8	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	56922	MCCC1	ORPHA:6
HP:0001626	Abnormality of the cardiovascular system	64087	MCCC2	ORPHA:6
HP:0001626	Abnormality of the cardiovascular system	5340	PLG	OMIM:619360
HP:0001626	Abnormality of the cardiovascular system	284	ANGPT1	OMIM:619361
HP:0001626	Abnormality of the cardiovascular system	26509	MYOF	OMIM:619366
HP:0001626	Abnormality of the cardiovascular system	64711	HS3ST6	OMIM:619367
HP:0001626	Abnormality of the cardiovascular system	3827	KNG1	OMIM:619363
HP:0001626	Abnormality of the cardiovascular system	330	BIRC3	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	10892	MALT1	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	3492	IGH	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	3492	IGH	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	8915	BCL10	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	84061	MAGT1	OMIM:300853
HP:0001626	Abnormality of the cardiovascular system	5580	PRKCD	OMIM:615559
HP:0001626	Abnormality of the cardiovascular system	596	BCL2	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	604	BCL6	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	2130	EWSR1	ORPHA:83469
HP:0001626	Abnormality of the cardiovascular system	10125	RASGRP1	OMIM:618534
HP:0001626	Abnormality of the cardiovascular system	5294	PIK3CG	OMIM:619802
HP:0001626	Abnormality of the cardiovascular system	1536	CYBB	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	4688	NCF2	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	1535	CYBA	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	4689	NCF4	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	79415	CYBC1	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	51284	TLR7	OMIM:301080
HP:0001626	Abnormality of the cardiovascular system	101929726	MYMX	ORPHA:1358
HP:0001626	Abnormality of the cardiovascular system	2263	FGFR2	ORPHA:1555
HP:0001626	Abnormality of the cardiovascular system	7010	TEK	ORPHA:1059
HP:0001626	Abnormality of the cardiovascular system	998	CDC42	ORPHA:487796
HP:0001626	Abnormality of the cardiovascular system	54345	SOX18	ORPHA:69735
HP:0001626	Abnormality of the cardiovascular system	2050	EPHB4	ORPHA:137667
HP:0001626	Abnormality of the cardiovascular system	1019	CDK4	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	4255	MGMT	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	54386	TERF2IP	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	4157	MC1R	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	65057	ACD	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	1029	CDKN2A	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	7015	TERT	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	25913	POT1	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	5605	MAP2K2	ORPHA:638
HP:0001626	Abnormality of the cardiovascular system	9508	ADAMTS3	ORPHA:2136
HP:0001626	Abnormality of the cardiovascular system	147372	CCBE1	ORPHA:2136
HP:0001626	Abnormality of the cardiovascular system	79633	FAT4	ORPHA:2136
HP:0001626	Abnormality of the cardiovascular system	80781	COL18A1	ORPHA:1571
HP:0001626	Abnormality of the cardiovascular system	5062	PAK2	ORPHA:1571
HP:0001626	Abnormality of the cardiovascular system	5745	PTH1R	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	3418	IDH2	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	3417	IDH1	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	3417	IDH1	ORPHA:99646
HP:0001626	Abnormality of the cardiovascular system	695	BTK	ORPHA:47
HP:0001626	Abnormality of the cardiovascular system	3425	IDUA	ORPHA:93473
HP:0001626	Abnormality of the cardiovascular system	3425	IDUA	ORPHA:93476
HP:0001626	Abnormality of the cardiovascular system	5921	RASA1	ORPHA:90307
HP:0001626	Abnormality of the cardiovascular system	6888	TALDO1	ORPHA:101028
HP:0001626	Abnormality of the cardiovascular system	126328	NDUFA11	OMIM:618236
HP:0001626	Abnormality of the cardiovascular system	529	ATP6V1E1	OMIM:617402
HP:0001626	Abnormality of the cardiovascular system	79087	ALG12	ORPHA:79324
HP:0001626	Abnormality of the cardiovascular system	146206	CARMIL2	OMIM:618131
HP:0001626	Abnormality of the cardiovascular system	6840	SVIL	OMIM:619040
HP:0001626	Abnormality of the cardiovascular system	6651	SON	ORPHA:500150
HP:0001626	Abnormality of the cardiovascular system	2304	FOXE1	ORPHA:319487
HP:0001626	Abnormality of the cardiovascular system	9562	MINPP1	ORPHA:319487
HP:0001626	Abnormality of the cardiovascular system	80206	FHOD3	OMIM:619402
HP:0010438	Abnormal ventricular septum morphology	8036	SHOC2	OMIM:607721
HP:0010438	Abnormal ventricular septum morphology	10617	STAMBP	OMIM:614261
HP:0010438	Abnormal ventricular septum morphology	6910	TBX5	ORPHA:392
HP:0010438	Abnormal ventricular septum morphology	6910	TBX5	OMIM:142900
HP:0010438	Abnormal ventricular septum morphology	28981	IFT81	OMIM:617895
HP:0010438	Abnormal ventricular septum morphology	8216	LZTR1	OMIM:616564
HP:0010438	Abnormal ventricular septum morphology	8216	LZTR1	OMIM:605275
HP:0010438	Abnormal ventricular septum morphology	776	CACNA1D	OMIM:615474
HP:0010438	Abnormal ventricular septum morphology	776	CACNA1D	ORPHA:369929
HP:0010438	Abnormal ventricular septum morphology	91754	NEK9	OMIM:614262
HP:0010438	Abnormal ventricular septum morphology	91754	NEK9	OMIM:617022
HP:0010438	Abnormal ventricular septum morphology	4750	NEK1	OMIM:263520
HP:0010438	Abnormal ventricular septum morphology	2132	EXT2	OMIM:616682
HP:0010438	Abnormal ventricular septum morphology	1024	CDK8	OMIM:618748
HP:0010438	Abnormal ventricular septum morphology	6659	SOX4	OMIM:618506
HP:0010438	Abnormal ventricular septum morphology	6659	SOX4	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6016	RIT1	OMIM:615355
HP:0010438	Abnormal ventricular septum morphology	51126	NAA20	OMIM:619717
HP:0010438	Abnormal ventricular septum morphology	2972	BRF1	OMIM:616202
HP:0010438	Abnormal ventricular septum morphology	2972	BRF1	ORPHA:444072
HP:0010438	Abnormal ventricular septum morphology	81857	MED25	OMIM:616449
HP:0010438	Abnormal ventricular septum morphology	81857	MED25	ORPHA:464738
HP:0010438	Abnormal ventricular septum morphology	22800	RRAS2	OMIM:618624
HP:0010438	Abnormal ventricular septum morphology	91801	ALKBH8	OMIM:618504
HP:0010438	Abnormal ventricular septum morphology	1131	CHRM3	ORPHA:2970
HP:0010438	Abnormal ventricular septum morphology	64220	STRA6	OMIM:601186
HP:0010438	Abnormal ventricular septum morphology	55209	SETD5	ORPHA:404440
HP:0010438	Abnormal ventricular septum morphology	3190	HNRNPK	ORPHA:453504
HP:0010438	Abnormal ventricular septum morphology	3190	HNRNPK	ORPHA:352665
HP:0010438	Abnormal ventricular septum morphology	10743	RAI1	ORPHA:477817
HP:0010438	Abnormal ventricular septum morphology	197131	UBR1	OMIM:243800
HP:0010438	Abnormal ventricular septum morphology	55790	CSGALNACT1	OMIM:618870
HP:0010438	Abnormal ventricular septum morphology	55790	CSGALNACT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	79639	TMEM53	OMIM:619727
HP:0010438	Abnormal ventricular septum morphology	2201	FBN2	OMIM:121050
HP:0010438	Abnormal ventricular septum morphology	23384	SPECC1L	ORPHA:1519
HP:0010438	Abnormal ventricular septum morphology	23384	SPECC1L	OMIM:145420
HP:0010438	Abnormal ventricular septum morphology	7086	TKT	ORPHA:488618
HP:0010438	Abnormal ventricular septum morphology	7086	TKT	OMIM:617044
HP:0010438	Abnormal ventricular septum morphology	5189	PEX1	OMIM:214100
HP:0010438	Abnormal ventricular septum morphology	5189	PEX1	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	2626	GATA4	OMIM:607941
HP:0010438	Abnormal ventricular septum morphology	2626	GATA4	OMIM:614429
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	ORPHA:363958
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	OMIM:610443
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	ORPHA:363965
HP:0010438	Abnormal ventricular septum morphology	9469	CHST3	OMIM:143095
HP:0010438	Abnormal ventricular septum morphology	7021	TFAP2B	ORPHA:46627
HP:0010438	Abnormal ventricular septum morphology	54567	DLL4	OMIM:616589
HP:0010438	Abnormal ventricular septum morphology	815	CAMK2A	OMIM:617798
HP:0010438	Abnormal ventricular septum morphology	4853	NOTCH2	OMIM:102500
HP:0010438	Abnormal ventricular septum morphology	4853	NOTCH2	ORPHA:955
HP:0010438	Abnormal ventricular septum morphology	7994	KAT6A	ORPHA:457193
HP:0010438	Abnormal ventricular septum morphology	7994	KAT6A	OMIM:616268
HP:0010438	Abnormal ventricular septum morphology	64359	NXN	ORPHA:1507
HP:0010438	Abnormal ventricular septum morphology	4920	ROR2	ORPHA:1507
HP:0010438	Abnormal ventricular septum morphology	4920	ROR2	OMIM:113000
HP:0010438	Abnormal ventricular septum morphology	2697	GJA1	ORPHA:2710
HP:0010438	Abnormal ventricular septum morphology	4313	MMP2	ORPHA:371428
HP:0010438	Abnormal ventricular septum morphology	4323	MMP14	ORPHA:371428
HP:0010438	Abnormal ventricular septum morphology	5566	PRKACA	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	5567	PRKACB	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	2735	GLI1	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	2121	EVC	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	51626	DYNC2LI1	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	132884	EVC2	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	6926	TBX3	OMIM:181450
HP:0010438	Abnormal ventricular septum morphology	6926	TBX3	ORPHA:3138
HP:0010438	Abnormal ventricular septum morphology	4763	NF1	ORPHA:363700
HP:0010438	Abnormal ventricular septum morphology	22884	WDR37	OMIM:618652
HP:0010438	Abnormal ventricular septum morphology	7386	UQCRFS1	OMIM:618775
HP:0010438	Abnormal ventricular septum morphology	23327	NEDD4L	OMIM:617201
HP:0010438	Abnormal ventricular septum morphology	168507	PKD1L1	OMIM:617205
HP:0010438	Abnormal ventricular septum morphology	93627	TBCK	ORPHA:488632
HP:0010438	Abnormal ventricular septum morphology	64132	XYLT2	ORPHA:85194
HP:0010438	Abnormal ventricular septum morphology	4247	MGAT2	OMIM:212066
HP:0010438	Abnormal ventricular septum morphology	4247	MGAT2	ORPHA:79329
HP:0010438	Abnormal ventricular septum morphology	81794	ADAMTS10	OMIM:277600
HP:0010438	Abnormal ventricular septum morphology	81794	ADAMTS10	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	3476	IGBP1	ORPHA:52055
HP:0010438	Abnormal ventricular septum morphology	3476	IGBP1	OMIM:300472
HP:0010438	Abnormal ventricular septum morphology	8493	PPM1D	OMIM:617450
HP:0010438	Abnormal ventricular septum morphology	56006	SMG9	OMIM:619995
HP:0010438	Abnormal ventricular septum morphology	56006	SMG9	OMIM:616920
HP:0010438	Abnormal ventricular septum morphology	1349	COX7B	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	3052	HCCS	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	54539	NDUFB11	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	54914	FOCAD	OMIM:619991
HP:0010438	Abnormal ventricular septum morphology	51633	OTUD6B	OMIM:617452
HP:0010438	Abnormal ventricular septum morphology	51633	OTUD6B	ORPHA:505237
HP:0010438	Abnormal ventricular septum morphology	27125	AFF4	OMIM:616368
HP:0010438	Abnormal ventricular septum morphology	27125	AFF4	ORPHA:444077
HP:0010438	Abnormal ventricular septum morphology	5604	MAP2K1	OMIM:615279
HP:0010438	Abnormal ventricular septum morphology	5604	MAP2K1	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	150468	CKAP2L	OMIM:272440
HP:0010438	Abnormal ventricular septum morphology	150468	CKAP2L	ORPHA:3255
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	ORPHA:1727
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	OMIM:188400
HP:0010438	Abnormal ventricular septum morphology	6134	RPL10	ORPHA:459070
HP:0010438	Abnormal ventricular septum morphology	6134	RPL10	OMIM:300998
HP:0010438	Abnormal ventricular septum morphology	415	ARSL	ORPHA:79345
HP:0010438	Abnormal ventricular septum morphology	1859	DYRK1A	ORPHA:464311
HP:0010438	Abnormal ventricular septum morphology	1859	DYRK1A	ORPHA:268261
HP:0010438	Abnormal ventricular septum morphology	79796	ALG9	ORPHA:79328
HP:0010438	Abnormal ventricular septum morphology	8314	BAP1	OMIM:619762
HP:0010438	Abnormal ventricular septum morphology	7750	ZMYM2	OMIM:619522
HP:0010438	Abnormal ventricular septum morphology	9158	FIBP	OMIM:617107
HP:0010438	Abnormal ventricular septum morphology	9158	FIBP	ORPHA:500095
HP:0010438	Abnormal ventricular septum morphology	200424	TET3	OMIM:618798
HP:0010438	Abnormal ventricular septum morphology	2542	SLC37A4	OMIM:619525
HP:0010438	Abnormal ventricular septum morphology	9772	TMEM94	OMIM:618316
HP:0010438	Abnormal ventricular septum morphology	9993	DGCR2	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	8220	ESS2	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	8214	DGCR6	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	54487	DGCR8	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	51341	ZBTB7A	OMIM:619769
HP:0010438	Abnormal ventricular septum morphology	79728	PALB2	OMIM:610832
HP:0010438	Abnormal ventricular septum morphology	9968	MED12	OMIM:301068
HP:0010438	Abnormal ventricular septum morphology	9968	MED12	OMIM:309520
HP:0010438	Abnormal ventricular septum morphology	4621	MYH3	OMIM:178110
HP:0010438	Abnormal ventricular septum morphology	775	CACNA1C	OMIM:601005
HP:0010438	Abnormal ventricular septum morphology	2239	GPC4	ORPHA:373
HP:0010438	Abnormal ventricular septum morphology	2239	GPC4	OMIM:312870
HP:0010438	Abnormal ventricular septum morphology	2719	GPC3	ORPHA:373
HP:0010438	Abnormal ventricular septum morphology	2719	GPC3	OMIM:312870
HP:0010438	Abnormal ventricular septum morphology	23007	PLCH1	OMIM:619895
HP:0010438	Abnormal ventricular septum morphology	23483	TGDS	OMIM:616145
HP:0010438	Abnormal ventricular septum morphology	23483	TGDS	ORPHA:1388
HP:0010438	Abnormal ventricular septum morphology	285203	EOGT	OMIM:615297
HP:0010438	Abnormal ventricular septum morphology	8565	YARS1	OMIM:619418
HP:0010438	Abnormal ventricular septum morphology	54916	TMEM260	OMIM:617478
HP:0010438	Abnormal ventricular septum morphology	25836	NIPBL	OMIM:122470
HP:0010438	Abnormal ventricular septum morphology	25836	NIPBL	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	23499	MACF1	OMIM:618325
HP:0010438	Abnormal ventricular septum morphology	3930	LBR	OMIM:169400
HP:0010438	Abnormal ventricular septum morphology	4087	SMAD2	OMIM:619657
HP:0010438	Abnormal ventricular septum morphology	404672	GTF2H5	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	833	CARS1	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2068	ERCC2	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	7737	RNF113A	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	136647	MPLKIP	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	136647	MPLKIP	OMIM:234050
HP:0010438	Abnormal ventricular septum morphology	6897	TARS1	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2071	ERCC3	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2961	GTF2E2	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	54361	WNT4	OMIM:611812
HP:0010438	Abnormal ventricular septum morphology	54361	WNT4	ORPHA:139466
HP:0010438	Abnormal ventricular septum morphology	286204	CRB2	OMIM:219730
HP:0010438	Abnormal ventricular septum morphology	9896	FIG4	OMIM:216340
HP:0010438	Abnormal ventricular septum morphology	9896	FIG4	ORPHA:3472
HP:0010438	Abnormal ventricular septum morphology	6135	RPL11	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6135	RPL11	OMIM:612562
HP:0010438	Abnormal ventricular septum morphology	6138	RPL15	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6138	RPL15	OMIM:615550
HP:0010438	Abnormal ventricular septum morphology	6229	RPS24	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6125	RPL5	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6125	RPL5	OMIM:612561
HP:0010438	Abnormal ventricular septum morphology	6204	RPS10	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6224	RPS20	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6165	RPL35A	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6165	RPL35A	OMIM:612528
HP:0010438	Abnormal ventricular septum morphology	2623	GATA1	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	2623	GATA1	OMIM:190685
HP:0010438	Abnormal ventricular septum morphology	6223	RPS19	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6223	RPS19	OMIM:105650
HP:0010438	Abnormal ventricular septum morphology	6232	RPS27	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6231	RPS26	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6231	RPS26	OMIM:613309
HP:0010438	Abnormal ventricular septum morphology	11224	RPL35	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6160	RPL31	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6218	RPS17	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6201	RPS7	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6155	RPL27	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6154	RPL26	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6210	RPS15A	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	90121	TSR2	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6141	RPL18	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6235	RPS29	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6234	RPS28	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	51816	ADA2	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6261	RYR1	OMIM:619542
HP:0010438	Abnormal ventricular septum morphology	8295	TRRAP	OMIM:618454
HP:0010438	Abnormal ventricular septum morphology	8621	CDK13	OMIM:617360
HP:0010438	Abnormal ventricular septum morphology	93233	ODAD1	OMIM:615067
HP:0010438	Abnormal ventricular septum morphology	1892	ECHS1	OMIM:616277
HP:0010438	Abnormal ventricular septum morphology	1892	ECHS1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	51117	COQ4	OMIM:616276
HP:0010438	Abnormal ventricular septum morphology	1523	CUX1	OMIM:618330
HP:0010438	Abnormal ventricular septum morphology	4212	MEIS2	ORPHA:261190
HP:0010438	Abnormal ventricular septum morphology	4212	MEIS2	OMIM:600987
HP:0010438	Abnormal ventricular septum morphology	115948	ODAD3	OMIM:616037
HP:0010438	Abnormal ventricular septum morphology	55770	EXOC2	OMIM:619306
HP:0010438	Abnormal ventricular septum morphology	6654	SOS1	OMIM:610733
HP:0010438	Abnormal ventricular septum morphology	6792	CDKL5	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	3736	KCNA1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	9091	PIGQ	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2775	GNAO1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	81603	TRIM8	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2902	GRIN1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	79751	SLC25A22	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	150094	SIK1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	8573	CASK	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	23312	DMXL2	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2917	GRM7	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	170302	ARX	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	170302	ARX	ORPHA:452
HP:0010438	Abnormal ventricular septum morphology	11284	PNKP	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	6326	SCN2A	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	51227	PIGP	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	6324	SCN1B	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	4761	NEUROD2	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	7080	NKX2-1	OMIM:610978
HP:0010438	Abnormal ventricular septum morphology	7080	NKX2-1	ORPHA:209905
HP:0010438	Abnormal ventricular septum morphology	2263	FGFR2	OMIM:101200
HP:0010438	Abnormal ventricular septum morphology	2737	GLI3	ORPHA:672
HP:0010438	Abnormal ventricular septum morphology	2737	GLI3	OMIM:146510
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	OMIM:600373
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	ORPHA:79243
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	ORPHA:1458
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	ORPHA:508498
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	ORPHA:508488
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	OMIM:615583
HP:0010438	Abnormal ventricular septum morphology	388015	RTL1	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	388015	RTL1	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	8788	DLK1	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	8788	DLK1	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	55384	MEG3	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	55384	MEG3	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	23013	SPEN	OMIM:619312
HP:0010438	Abnormal ventricular septum morphology	123606	NIPA1	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	7283	TUBG1	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	81614	NIPA2	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	2187	FANCB	OMIM:300514
HP:0010438	Abnormal ventricular septum morphology	23314	SATB2	ORPHA:251028
HP:0010438	Abnormal ventricular septum morphology	57122	NUP107	OMIM:618348
HP:0010438	Abnormal ventricular septum morphology	57122	NUP107	OMIM:616730
HP:0010438	Abnormal ventricular septum morphology	4838	NODAL	OMIM:270100
HP:0010438	Abnormal ventricular septum morphology	55315	SLC29A3	OMIM:602782
HP:0010438	Abnormal ventricular septum morphology	55315	SLC29A3	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	6299	SALL1	OMIM:107480
HP:0010438	Abnormal ventricular septum morphology	7490	WT1	ORPHA:3097
HP:0010438	Abnormal ventricular septum morphology	7490	WT1	OMIM:608978
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	ORPHA:353281
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	OMIM:180849
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	ORPHA:353277
HP:0010438	Abnormal ventricular septum morphology	23395	LARS2	OMIM:617021
HP:0010438	Abnormal ventricular septum morphology	6651	SON	OMIM:617140
HP:0010438	Abnormal ventricular septum morphology	55215	FANCI	OMIM:609053
HP:0010438	Abnormal ventricular septum morphology	2033	EP300	ORPHA:353284
HP:0010438	Abnormal ventricular septum morphology	2033	EP300	OMIM:180849
HP:0010438	Abnormal ventricular septum morphology	4041	LRP5	OMIM:259770
HP:0010438	Abnormal ventricular septum morphology	9126	SMC3	OMIM:610759
HP:0010438	Abnormal ventricular septum morphology	9126	SMC3	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	79068	FTO	OMIM:612938
HP:0010438	Abnormal ventricular septum morphology	8626	TP63	OMIM:106260
HP:0010438	Abnormal ventricular septum morphology	473	RERE	ORPHA:494344
HP:0010438	Abnormal ventricular septum morphology	473	RERE	OMIM:616975
HP:0010438	Abnormal ventricular septum morphology	4784	NFIX	OMIM:602535
HP:0010438	Abnormal ventricular septum morphology	4784	NFIX	ORPHA:447980
HP:0010438	Abnormal ventricular septum morphology	57551	TAOK1	OMIM:619575
HP:0010438	Abnormal ventricular septum morphology	8260	NAA10	OMIM:300855
HP:0010438	Abnormal ventricular septum morphology	8260	NAA10	ORPHA:276432
HP:0010438	Abnormal ventricular septum morphology	10082	GPC6	OMIM:258315
HP:0010438	Abnormal ventricular septum morphology	1108	CHD4	OMIM:617159
HP:0010438	Abnormal ventricular septum morphology	23389	MED13L	ORPHA:369891
HP:0010438	Abnormal ventricular septum morphology	1312	COMT	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	221037	JMJD1C	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	2812	GP1BB	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	6239	RREB1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	7290	HIRA	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	9632	SEC24C	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	7353	UFD1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	421	ARVCF	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	3265	HRAS	ORPHA:3071
HP:0010438	Abnormal ventricular septum morphology	3265	HRAS	OMIM:218040
HP:0010438	Abnormal ventricular septum morphology	26276	VPS33B	OMIM:208085
HP:0010438	Abnormal ventricular septum morphology	10524	KAT5	OMIM:619103
HP:0010438	Abnormal ventricular septum morphology	372	ARCN1	OMIM:617164
HP:0010438	Abnormal ventricular septum morphology	1822	ATN1	OMIM:618494
HP:0010438	Abnormal ventricular septum morphology	6304	SATB1	OMIM:619229
HP:0010438	Abnormal ventricular septum morphology	4990	SIX6	OMIM:206900
HP:0010438	Abnormal ventricular septum morphology	6657	SOX2	OMIM:206900
HP:0010438	Abnormal ventricular septum morphology	6657	SOX2	ORPHA:77298
HP:0010438	Abnormal ventricular septum morphology	8883	NAE1	OMIM:620210
HP:0010438	Abnormal ventricular septum morphology	9343	EFTUD2	OMIM:610536
HP:0010438	Abnormal ventricular septum morphology	57003	CCDC47	OMIM:618268
HP:0010438	Abnormal ventricular septum morphology	5977	DPF2	OMIM:618027
HP:0010438	Abnormal ventricular septum morphology	5977	DPF2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	57061	HYMAI	ORPHA:96191
HP:0010438	Abnormal ventricular septum morphology	5325	PLAGL1	ORPHA:96191
HP:0010438	Abnormal ventricular septum morphology	10526	IPO8	OMIM:619472
HP:0010438	Abnormal ventricular septum morphology	64840	PORCN	ORPHA:2092
HP:0010438	Abnormal ventricular septum morphology	348180	CTU2	OMIM:618142
HP:0010438	Abnormal ventricular septum morphology	340419	RSPO2	OMIM:618021
HP:0010438	Abnormal ventricular septum morphology	145173	B3GLCT	OMIM:261540
HP:0010438	Abnormal ventricular septum morphology	6711	SPTBN1	OMIM:619475
HP:0010438	Abnormal ventricular septum morphology	26005	C2CD3	ORPHA:434179
HP:0010438	Abnormal ventricular septum morphology	26005	C2CD3	OMIM:615948
HP:0010438	Abnormal ventricular septum morphology	57514	ARHGAP31	OMIM:100300
HP:0010438	Abnormal ventricular septum morphology	10283	CWC27	OMIM:250410
HP:0010438	Abnormal ventricular septum morphology	10283	CWC27	ORPHA:166035
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	OMIM:123700
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	OMIM:194050
HP:0010438	Abnormal ventricular septum morphology	7204	TRIO	OMIM:617061
HP:0010438	Abnormal ventricular septum morphology	5290	PIK3CA	OMIM:602501
HP:0010438	Abnormal ventricular septum morphology	285590	SH3PXD2B	OMIM:249420
HP:0010438	Abnormal ventricular septum morphology	374879	ZNF699	OMIM:619488
HP:0010438	Abnormal ventricular septum morphology	4841	NONO	OMIM:300967
HP:0010438	Abnormal ventricular septum morphology	4841	NONO	ORPHA:466791
HP:0010438	Abnormal ventricular septum morphology	51715	RAB23	OMIM:201000
HP:0010438	Abnormal ventricular septum morphology	8318	CDC45	OMIM:617063
HP:0010438	Abnormal ventricular septum morphology	29123	ANKRD11	ORPHA:261250
HP:0010438	Abnormal ventricular septum morphology	28952	CCDC22	OMIM:300963
HP:0010438	Abnormal ventricular septum morphology	28952	CCDC22	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	90416	CCDC32	OMIM:619123
HP:0010438	Abnormal ventricular septum morphology	118924	FRA10AC1	OMIM:620113
HP:0010438	Abnormal ventricular septum morphology	4222	MEOX1	OMIM:214300
HP:0010438	Abnormal ventricular septum morphology	4222	MEOX1	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	407975	MIR17HG	ORPHA:391646
HP:0010438	Abnormal ventricular septum morphology	126792	B3GALT6	OMIM:271640
HP:0010438	Abnormal ventricular septum morphology	745	MYRF	OMIM:618280
HP:0010438	Abnormal ventricular septum morphology	10084	PQBP1	OMIM:309500
HP:0010438	Abnormal ventricular septum morphology	2176	FANCC	OMIM:227645
HP:0010438	Abnormal ventricular septum morphology	4256	MGP	OMIM:245150
HP:0010438	Abnormal ventricular septum morphology	4256	MGP	ORPHA:85202
HP:0010438	Abnormal ventricular septum morphology	5528	PPP2R5D	ORPHA:457279
HP:0010438	Abnormal ventricular septum morphology	9487	PIGL	OMIM:280000
HP:0010438	Abnormal ventricular septum morphology	9487	PIGL	ORPHA:3474
HP:0010438	Abnormal ventricular septum morphology	5236	PGM1	OMIM:614921
HP:0010438	Abnormal ventricular septum morphology	5297	PI4KA	ORPHA:436252
HP:0010438	Abnormal ventricular septum morphology	57217	TTC7A	ORPHA:436252
HP:0010438	Abnormal ventricular septum morphology	57217	TTC7A	OMIM:243150
HP:0010438	Abnormal ventricular septum morphology	3643	INSR	ORPHA:769
HP:0010438	Abnormal ventricular septum morphology	23522	KAT6B	ORPHA:3047
HP:0010438	Abnormal ventricular septum morphology	23522	KAT6B	OMIM:606170
HP:0010438	Abnormal ventricular septum morphology	219844	HYLS1	OMIM:236680
HP:0010438	Abnormal ventricular septum morphology	9897	WASHC5	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	9897	WASHC5	OMIM:220210
HP:0010438	Abnormal ventricular septum morphology	55181	SMG8	OMIM:619268
HP:0010438	Abnormal ventricular septum morphology	9652	SKIC3	ORPHA:84064
HP:0010438	Abnormal ventricular septum morphology	9652	SKIC3	OMIM:222470
HP:0010438	Abnormal ventricular septum morphology	6499	SKIC2	ORPHA:84064
HP:0010438	Abnormal ventricular septum morphology	26123	TCTN3	OMIM:614815
HP:0010438	Abnormal ventricular septum morphology	3480	IGF1R	OMIM:270450
HP:0010438	Abnormal ventricular septum morphology	8085	KMT2D	OMIM:147920
HP:0010438	Abnormal ventricular septum morphology	7403	KDM6A	OMIM:147920
HP:0010438	Abnormal ventricular septum morphology	2294	FOXF1	OMIM:265380
HP:0010438	Abnormal ventricular septum morphology	2294	FOXF1	ORPHA:210122
HP:0010438	Abnormal ventricular septum morphology	137814	NKX2-6	ORPHA:3384
HP:0010438	Abnormal ventricular septum morphology	23129	PLXND1	ORPHA:3384
HP:0010438	Abnormal ventricular septum morphology	10262	SF3B4	OMIM:154400
HP:0010438	Abnormal ventricular septum morphology	894	CCND2	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	5296	PIK3R2	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	5296	PIK3R2	OMIM:603387
HP:0010438	Abnormal ventricular septum morphology	10000	AKT3	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	23241	PACS2	OMIM:618067
HP:0010438	Abnormal ventricular septum morphology	26128	KIFBP	OMIM:609460
HP:0010438	Abnormal ventricular septum morphology	83700	JAM3	OMIM:613730
HP:0010438	Abnormal ventricular septum morphology	2657	GDF1	OMIM:613854
HP:0010438	Abnormal ventricular septum morphology	2657	GDF1	OMIM:208530
HP:0010438	Abnormal ventricular septum morphology	8854	ALDH1A2	OMIM:620025
HP:0010438	Abnormal ventricular septum morphology	10992	SF3B2	OMIM:164210
HP:0010438	Abnormal ventricular septum morphology	8496	PPFIBP1	OMIM:620024
HP:0010438	Abnormal ventricular septum morphology	9839	ZEB2	OMIM:235730
HP:0010438	Abnormal ventricular septum morphology	9839	ZEB2	ORPHA:261552
HP:0010438	Abnormal ventricular septum morphology	29072	SETD2	ORPHA:821
HP:0010438	Abnormal ventricular septum morphology	10297	APC2	ORPHA:821
HP:0010438	Abnormal ventricular septum morphology	4281	MID1	OMIM:300000
HP:0010438	Abnormal ventricular septum morphology	4281	MID1	ORPHA:2745
HP:0010438	Abnormal ventricular septum morphology	80232	WDR26	ORPHA:513456
HP:0010438	Abnormal ventricular septum morphology	80232	WDR26	OMIM:617616
HP:0010438	Abnormal ventricular septum morphology	613	BCR	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	1399	CRKL	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	5594	MAPK1	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	89910	UBE3B	OMIM:244450
HP:0010438	Abnormal ventricular septum morphology	55249	YY1AP1	ORPHA:79094
HP:0010438	Abnormal ventricular septum morphology	1717	DHCR7	ORPHA:818
HP:0010438	Abnormal ventricular septum morphology	1717	DHCR7	OMIM:270400
HP:0010438	Abnormal ventricular septum morphology	10225	CD96	OMIM:211750
HP:0010438	Abnormal ventricular septum morphology	57492	ARID1B	OMIM:135900
HP:0010438	Abnormal ventricular septum morphology	57492	ARID1B	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	5119	CHMP1A	OMIM:614961
HP:0010438	Abnormal ventricular septum morphology	1889	ECE1	OMIM:613870
HP:0010438	Abnormal ventricular septum morphology	93	ACVR2B	OMIM:613751
HP:0010438	Abnormal ventricular septum morphology	1801	DPH1	OMIM:616901
HP:0010438	Abnormal ventricular septum morphology	8772	FADD	OMIM:613759
HP:0010438	Abnormal ventricular septum morphology	8772	FADD	ORPHA:306550
HP:0010438	Abnormal ventricular septum morphology	6597	SMARCA4	OMIM:614609
HP:0010438	Abnormal ventricular septum morphology	6597	SMARCA4	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	55697	VAC14	ORPHA:3472
HP:0010438	Abnormal ventricular septum morphology	55148	UBR7	OMIM:619189
HP:0010438	Abnormal ventricular septum morphology	55636	CHD7	OMIM:214800
HP:0010438	Abnormal ventricular septum morphology	63894	VIPAS39	OMIM:613404
HP:0010438	Abnormal ventricular septum morphology	4036	LRP2	ORPHA:2143
HP:0010438	Abnormal ventricular septum morphology	4036	LRP2	OMIM:222448
HP:0010438	Abnormal ventricular septum morphology	53834	FGFRL1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	1487	CTBP1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	3954	LETM1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	7468	NSD2	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	10815	CPLX1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	26227	PHGDH	OMIM:256520
HP:0010438	Abnormal ventricular septum morphology	23118	TAB2	OMIM:614980
HP:0010438	Abnormal ventricular septum morphology	4519	MT-CYB	ORPHA:137675
HP:0010438	Abnormal ventricular septum morphology	5828	PEX2	OMIM:614866
HP:0010438	Abnormal ventricular septum morphology	5828	PEX2	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	6804	STX1A	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	7461	CLIP2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	84277	DNAJC30	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	8468	FKBP6	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	5982	RFC2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	2969	GTF2I	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	3984	LIMK1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	9569	GTF2IRD1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	155382	VPS37D	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	155368	METTL27	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	114049	BUD23	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	7458	EIF4H	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	84163	GTF2IRD2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	9275	BCL7B	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	26608	TBL2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	653361	NCF1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	135886	TMEM270	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	51085	MLXIPL	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	51085	MLXIPL	OMIM:194050
HP:0010438	Abnormal ventricular septum morphology	9031	BAZ1B	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	83475	DOHH	OMIM:620066
HP:0010438	Abnormal ventricular septum morphology	55719	SLF2	OMIM:620184
HP:0010438	Abnormal ventricular septum morphology	10907	TXNL4A	OMIM:608572
HP:0010438	Abnormal ventricular septum morphology	6558	SLC12A2	OMIM:619083
HP:0010438	Abnormal ventricular septum morphology	10236	HNRNPR	OMIM:620073
HP:0010438	Abnormal ventricular septum morphology	2200	FBN1	OMIM:608328
HP:0010438	Abnormal ventricular septum morphology	2200	FBN1	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	6628	SNRPB	ORPHA:1393
HP:0010438	Abnormal ventricular septum morphology	6628	SNRPB	OMIM:117650
HP:0010438	Abnormal ventricular septum morphology	4089	SMAD4	OMIM:139210
HP:0010438	Abnormal ventricular septum morphology	182	JAG1	OMIM:118450
HP:0010438	Abnormal ventricular septum morphology	182	JAG1	OMIM:617992
HP:0010438	Abnormal ventricular septum morphology	9409	PEX16	OMIM:614876
HP:0010438	Abnormal ventricular septum morphology	9409	PEX16	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	51244	CCDC174	OMIM:616816
HP:0010438	Abnormal ventricular septum morphology	2065	ERBB3	OMIM:607598
HP:0010438	Abnormal ventricular septum morphology	51322	WAC	ORPHA:284169
HP:0010438	Abnormal ventricular septum morphology	10324	KLHL41	OMIM:615731
HP:0010438	Abnormal ventricular septum morphology	4053	LTBP2	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	80184	CEP290	OMIM:611134
HP:0010438	Abnormal ventricular septum morphology	140628	GATA5	OMIM:617912
HP:0010438	Abnormal ventricular septum morphology	8195	MKKS	ORPHA:2473
HP:0010438	Abnormal ventricular septum morphology	147372	CCBE1	OMIM:235510
HP:0010438	Abnormal ventricular septum morphology	4851	NOTCH1	OMIM:109730
HP:0010438	Abnormal ventricular septum morphology	157570	ESCO2	OMIM:268300
HP:0010438	Abnormal ventricular septum morphology	171023	ASXL1	OMIM:605039
HP:0010438	Abnormal ventricular septum morphology	2317	FLNB	OMIM:150250
HP:0010438	Abnormal ventricular septum morphology	2303	FOXC2	OMIM:153400
HP:0010438	Abnormal ventricular septum morphology	667	DST	OMIM:614653
HP:0010438	Abnormal ventricular septum morphology	9573	GDF3	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	392255	GDF6	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	55690	PACS1	ORPHA:329224
HP:0010438	Abnormal ventricular septum morphology	7319	UBE2A	ORPHA:163956
HP:0010438	Abnormal ventricular septum morphology	55112	DYNC2I1	OMIM:615503
HP:0010438	Abnormal ventricular septum morphology	63895	PIEZO2	ORPHA:2461
HP:0010438	Abnormal ventricular septum morphology	55670	PEX26	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5824	PEX19	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	8504	PEX3	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	8799	PEX11B	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5190	PEX6	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5830	PEX5	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5193	PEX12	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5194	PEX13	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5195	PEX14	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5192	PEX10	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	6888	TALDO1	OMIM:606003
HP:0010438	Abnormal ventricular septum morphology	8243	SMC1A	OMIM:301044
HP:0010438	Abnormal ventricular septum morphology	8243	SMC1A	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	7026	NR2F2	OMIM:618901
HP:0010438	Abnormal ventricular septum morphology	7026	NR2F2	OMIM:615779
HP:0010438	Abnormal ventricular septum morphology	11020	IFT27	OMIM:615996
HP:0010438	Abnormal ventricular septum morphology	5648	MASP1	OMIM:257920
HP:0010438	Abnormal ventricular septum morphology	26160	IFT172	OMIM:615630
HP:0010438	Abnormal ventricular septum morphology	1788	DNMT3A	OMIM:615879
HP:0010438	Abnormal ventricular septum morphology	65062	TMEM237	OMIM:614424
HP:0010438	Abnormal ventricular septum morphology	85358	SHANK3	OMIM:606232
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:108900
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:614432
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:614435
HP:0010438	Abnormal ventricular septum morphology	546	ATRX	OMIM:301040
HP:0010438	Abnormal ventricular septum morphology	57167	SALL4	OMIM:607323
HP:0010438	Abnormal ventricular septum morphology	55593	OTUD5	OMIM:301056
HP:0010438	Abnormal ventricular septum morphology	1837	DTNA	OMIM:604169
HP:0010438	Abnormal ventricular septum morphology	57465	TBC1D24	OMIM:220500
HP:0010438	Abnormal ventricular septum morphology	4854	NOTCH3	OMIM:130720
HP:0010438	Abnormal ventricular septum morphology	4854	NOTCH3	ORPHA:2789
HP:0010438	Abnormal ventricular septum morphology	83479	DDX59	OMIM:174300
HP:0010438	Abnormal ventricular septum morphology	10560	SLC19A2	ORPHA:49827
HP:0010438	Abnormal ventricular septum morphology	10560	SLC19A2	OMIM:249270
HP:0010438	Abnormal ventricular septum morphology	5915	RARB	OMIM:615524
HP:0010438	Abnormal ventricular septum morphology	5053	PAH	ORPHA:2209
HP:0010438	Abnormal ventricular septum morphology	7547	ZIC3	OMIM:306955
HP:0010438	Abnormal ventricular septum morphology	6598	SMARCB1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	8289	ARID1A	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6601	SMARCC2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6602	SMARCD1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	196528	ARID2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6605	SMARCE1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6664	SOX11	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	5160	PDHA1	ORPHA:79243
HP:0010438	Abnormal ventricular septum morphology	5160	PDHA1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	6606	SMN1	OMIM:253300
HP:0010438	Abnormal ventricular septum morphology	3209	HOXA13	ORPHA:2438
HP:0010438	Abnormal ventricular septum morphology	5422	POLA1	OMIM:301030
HP:0010438	Abnormal ventricular septum morphology	79576	NKAP	OMIM:301039
HP:0010438	Abnormal ventricular septum morphology	25	ABL1	OMIM:617602
HP:0010438	Abnormal ventricular septum morphology	57511	COG6	OMIM:614576
HP:0010438	Abnormal ventricular septum morphology	2260	FGFR1	OMIM:613001
HP:0010438	Abnormal ventricular septum morphology	2313	FLI1	ORPHA:2308
HP:0010438	Abnormal ventricular septum morphology	7074	TIAM1	OMIM:619908
HP:0010438	Abnormal ventricular septum morphology	59336	PRDM13	OMIM:619909
HP:0010438	Abnormal ventricular septum morphology	23476	BRD4	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	55869	HDAC8	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	5885	RAD21	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	157680	VPS13B	ORPHA:193
HP:0010438	Abnormal ventricular septum morphology	10367	MICU1	OMIM:615673
HP:0010438	Abnormal ventricular septum morphology	3845	KRAS	OMIM:609942
HP:0010438	Abnormal ventricular septum morphology	54880	BCOR	OMIM:300166
HP:0010438	Abnormal ventricular septum morphology	55617	TASP1	OMIM:618950
HP:0010438	Abnormal ventricular septum morphology	1857	DVL3	OMIM:616894
HP:0010438	Abnormal ventricular septum morphology	10293	TRAIP	OMIM:616777
HP:0010438	Abnormal ventricular septum morphology	9702	CEP57	OMIM:614114
HP:0010438	Abnormal ventricular septum morphology	202018	TAPT1	OMIM:616897
HP:0010438	Abnormal ventricular septum morphology	5500	PPP1CB	OMIM:617506
HP:0010438	Abnormal ventricular septum morphology	93649	MYOCD	OMIM:618719
HP:0010438	Abnormal ventricular septum morphology	139285	AMER1	OMIM:300373
HP:0010438	Abnormal ventricular septum morphology	6389	SDHA	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	80704	SLC19A3	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	91942	NDUFAF2	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	6834	SURF1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4723	NDUFV1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	55572	FOXRED1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4729	NDUFV2	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	55967	NDUFA12	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	51204	TACO1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4720	NDUFS2	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4724	NDUFS4	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4728	NDUFS8	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	137682	NDUFAF6	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4722	NDUFS3	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	79133	NDUFAF5	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	100131801	PET100	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	1355	COX15	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	51079	NDUFA13	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	374291	NDUFS7	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4705	NDUFA10	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	51601	LIPT1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4719	NDUFS1	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4695	NDUFA2	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4697	NDUFA4	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	4704	NDUFA9	ORPHA:255241
HP:0010438	Abnormal ventricular septum morphology	5879	RAC1	OMIM:617751
HP:0010438	Abnormal ventricular septum morphology	5879	RAC1	ORPHA:500159
HP:0010438	Abnormal ventricular septum morphology	10274	STAG1	OMIM:617635
HP:0010438	Abnormal ventricular septum morphology	51780	KDM3B	OMIM:618846
HP:0010438	Abnormal ventricular septum morphology	1663	DDX11	OMIM:613398
HP:0010438	Abnormal ventricular septum morphology	10312	TCIRG1	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	8792	TNFRSF11A	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	5718	PSMD12	OMIM:617516
HP:0010438	Abnormal ventricular septum morphology	9439	MED23	OMIM:614249
HP:0010438	Abnormal ventricular septum morphology	9939	RBM8A	OMIM:274000
HP:0010438	Abnormal ventricular septum morphology	64131	XYLT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	124583	CANT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	37	ACADVL	ORPHA:26793
HP:0010438	Abnormal ventricular septum morphology	7043	TGFB3	OMIM:615582
HP:0010438	Abnormal ventricular septum morphology	7372	UMPS	OMIM:258900
HP:0010438	Abnormal ventricular septum morphology	84148	KAT8	OMIM:618974
HP:0010438	Abnormal ventricular septum morphology	6655	SOS2	OMIM:616559
HP:0010438	Abnormal ventricular septum morphology	100128908	CIROP	OMIM:619702
HP:0010438	Abnormal ventricular septum morphology	58499	ZNF462	OMIM:618619
HP:0010438	Abnormal ventricular septum morphology	5781	PTPN11	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	673	BRAF	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	57538	ALPK3	OMIM:618052
HP:0010438	Abnormal ventricular septum morphology	5605	MAP2K2	OMIM:615280
HP:0010438	Abnormal ventricular septum morphology	4633	MYL2	OMIM:608758
HP:0010438	Abnormal ventricular septum morphology	221496	LEMD2	OMIM:619322
HP:0010438	Abnormal ventricular septum morphology	2992	GYG1	ORPHA:263297
HP:0010438	Abnormal ventricular septum morphology	4607	MYBPC3	OMIM:115197
HP:0010438	Abnormal ventricular septum morphology	2717	GLA	OMIM:301500
HP:0010438	Abnormal ventricular septum morphology	26580	BSCL2	OMIM:269700
HP:0010438	Abnormal ventricular septum morphology	84665	MYPN	OMIM:615248
HP:0010438	Abnormal ventricular septum morphology	8048	CSRP3	OMIM:612124
HP:0010438	Abnormal ventricular septum morphology	7139	TNNT2	OMIM:115195
HP:0010438	Abnormal ventricular septum morphology	123263	MTFMT	OMIM:614947
HP:0010438	Abnormal ventricular septum morphology	23345	SYNE1	OMIM:612998
HP:0010438	Abnormal ventricular septum morphology	79989	IFT56	OMIM:619534
HP:0010438	Abnormal ventricular septum morphology	5337	PLD1	OMIM:212093
HP:0010438	Abnormal ventricular septum morphology	1802	DPH2	OMIM:620062
HP:0010438	Abnormal ventricular septum morphology	6123	RPL3L	OMIM:619371
HP:0010438	Abnormal ventricular septum morphology	5700	PSMC1	OMIM:620071
HP:0010438	Abnormal ventricular septum morphology	79228	THOC6	ORPHA:363444
HP:0010438	Abnormal ventricular septum morphology	5515	PPP2CA	OMIM:618354
HP:0010438	Abnormal ventricular septum morphology	64324	NSD1	OMIM:117550
HP:0010438	Abnormal ventricular septum morphology	2627	GATA6	OMIM:614474
HP:0010438	Abnormal ventricular septum morphology	6885	MAP3K7	OMIM:157800
HP:0010438	Abnormal ventricular septum morphology	2702	GJA5	OMIM:612474
HP:0010438	Abnormal ventricular septum morphology	2703	GJA8	OMIM:612474
HP:0010438	Abnormal ventricular septum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010438	Abnormal ventricular septum morphology	23511	NUP188	OMIM:618804
HP:0010438	Abnormal ventricular septum morphology	131118	DNAJC19	ORPHA:66634
HP:0010438	Abnormal ventricular septum morphology	23545	ATP6V0A2	OMIM:278250
HP:0010438	Abnormal ventricular septum morphology	51729	WBP11	OMIM:619227
HP:0010438	Abnormal ventricular septum morphology	2783	GNB2	OMIM:619503
HP:0010438	Abnormal ventricular septum morphology	439	GET3	OMIM:620203
HP:0010438	Abnormal ventricular septum morphology	374969	SVBP	OMIM:618569
HP:0010438	Abnormal ventricular septum morphology	79087	ALG12	ORPHA:79324
HP:0010438	Abnormal ventricular septum morphology	10735	STAG2	OMIM:301022
HP:0010438	Abnormal ventricular septum morphology	51611	DPH5	OMIM:620070
HP:0010438	Abnormal ventricular septum morphology	4613	MYCN	ORPHA:391641
HP:0010438	Abnormal ventricular septum morphology	1828	DSG1	OMIM:615508
HP:0010438	Abnormal ventricular septum morphology	3417	IDH1	ORPHA:99646
HP:0010438	Abnormal ventricular septum morphology	2271	FH	OMIM:606812
HP:0010438	Abnormal ventricular septum morphology	91949	COG7	OMIM:608779
HP:0010438	Abnormal ventricular septum morphology	4718	NDUFC2	OMIM:619170
HP:0010438	Abnormal ventricular septum morphology	808	CALM3	OMIM:618782
HP:0010438	Abnormal ventricular septum morphology	650	BMP2	OMIM:617877
HP:0010438	Abnormal ventricular septum morphology	1107	CHD3	OMIM:618205
HP:0010438	Abnormal ventricular septum morphology	22872	SEC31A	OMIM:618651
HP:0010438	Abnormal ventricular septum morphology	10370	CITED2	OMIM:614431
HP:0010438	Abnormal ventricular septum morphology	4625	MYH7	OMIM:613426
HP:0010438	Abnormal ventricular septum morphology	79053	ALG8	OMIM:608104
HP:0010438	Abnormal ventricular septum morphology	4713	NDUFB7	OMIM:620135
HP:0001629	Ventricular septal defect	8036	SHOC2	OMIM:607721
HP:0001629	Ventricular septal defect	10617	STAMBP	OMIM:614261
HP:0001629	Ventricular septal defect	6910	TBX5	ORPHA:392
HP:0001629	Ventricular septal defect	6910	TBX5	OMIM:142900
HP:0001629	Ventricular septal defect	28981	IFT81	OMIM:617895
HP:0001629	Ventricular septal defect	8216	LZTR1	OMIM:616564
HP:0001629	Ventricular septal defect	8216	LZTR1	OMIM:605275
HP:0001629	Ventricular septal defect	776	CACNA1D	OMIM:615474
HP:0001629	Ventricular septal defect	776	CACNA1D	ORPHA:369929
HP:0001629	Ventricular septal defect	91754	NEK9	OMIM:614262
HP:0001629	Ventricular septal defect	91754	NEK9	OMIM:617022
HP:0001629	Ventricular septal defect	4750	NEK1	OMIM:263520
HP:0001629	Ventricular septal defect	2132	EXT2	OMIM:616682
HP:0001629	Ventricular septal defect	1024	CDK8	OMIM:618748
HP:0001629	Ventricular septal defect	6659	SOX4	OMIM:618506
HP:0001629	Ventricular septal defect	6659	SOX4	ORPHA:1465
HP:0001629	Ventricular septal defect	6016	RIT1	OMIM:615355
HP:0001629	Ventricular septal defect	51126	NAA20	OMIM:619717
HP:0001629	Ventricular septal defect	2972	BRF1	OMIM:616202
HP:0001629	Ventricular septal defect	2972	BRF1	ORPHA:444072
HP:0001629	Ventricular septal defect	81857	MED25	OMIM:616449
HP:0001629	Ventricular septal defect	81857	MED25	ORPHA:464738
HP:0001629	Ventricular septal defect	22800	RRAS2	OMIM:618624
HP:0001629	Ventricular septal defect	91801	ALKBH8	OMIM:618504
HP:0001629	Ventricular septal defect	1131	CHRM3	ORPHA:2970
HP:0001629	Ventricular septal defect	64220	STRA6	OMIM:601186
HP:0001629	Ventricular septal defect	55209	SETD5	ORPHA:404440
HP:0001629	Ventricular septal defect	3190	HNRNPK	ORPHA:453504
HP:0001629	Ventricular septal defect	3190	HNRNPK	ORPHA:352665
HP:0001629	Ventricular septal defect	10743	RAI1	ORPHA:477817
HP:0001629	Ventricular septal defect	197131	UBR1	OMIM:243800
HP:0001629	Ventricular septal defect	55790	CSGALNACT1	OMIM:618870
HP:0001629	Ventricular septal defect	55790	CSGALNACT1	ORPHA:1425
HP:0001629	Ventricular septal defect	79639	TMEM53	OMIM:619727
HP:0001629	Ventricular septal defect	2201	FBN2	OMIM:121050
HP:0001629	Ventricular septal defect	23384	SPECC1L	ORPHA:1519
HP:0001629	Ventricular septal defect	23384	SPECC1L	OMIM:145420
HP:0001629	Ventricular septal defect	7086	TKT	ORPHA:488618
HP:0001629	Ventricular septal defect	7086	TKT	OMIM:617044
HP:0001629	Ventricular septal defect	5189	PEX1	OMIM:214100
HP:0001629	Ventricular septal defect	5189	PEX1	ORPHA:912
HP:0001629	Ventricular septal defect	2626	GATA4	OMIM:607941
HP:0001629	Ventricular septal defect	2626	GATA4	OMIM:614429
HP:0001629	Ventricular septal defect	284058	KANSL1	ORPHA:363958
HP:0001629	Ventricular septal defect	284058	KANSL1	OMIM:610443
HP:0001629	Ventricular septal defect	284058	KANSL1	ORPHA:363965
HP:0001629	Ventricular septal defect	9469	CHST3	OMIM:143095
HP:0001629	Ventricular septal defect	7021	TFAP2B	ORPHA:46627
HP:0001629	Ventricular septal defect	54567	DLL4	OMIM:616589
HP:0001629	Ventricular septal defect	815	CAMK2A	OMIM:617798
HP:0001629	Ventricular septal defect	4853	NOTCH2	OMIM:102500
HP:0001629	Ventricular septal defect	4853	NOTCH2	ORPHA:955
HP:0001629	Ventricular septal defect	7994	KAT6A	ORPHA:457193
HP:0001629	Ventricular septal defect	7994	KAT6A	OMIM:616268
HP:0001629	Ventricular septal defect	64359	NXN	ORPHA:1507
HP:0001629	Ventricular septal defect	4920	ROR2	ORPHA:1507
HP:0001629	Ventricular septal defect	4920	ROR2	OMIM:113000
HP:0001629	Ventricular septal defect	2697	GJA1	ORPHA:2710
HP:0001629	Ventricular septal defect	4313	MMP2	ORPHA:371428
HP:0001629	Ventricular septal defect	4323	MMP14	ORPHA:371428
HP:0001629	Ventricular septal defect	5566	PRKACA	ORPHA:289
HP:0001629	Ventricular septal defect	5567	PRKACB	ORPHA:289
HP:0001629	Ventricular septal defect	2735	GLI1	ORPHA:289
HP:0001629	Ventricular septal defect	2121	EVC	ORPHA:289
HP:0001629	Ventricular septal defect	51626	DYNC2LI1	ORPHA:289
HP:0001629	Ventricular septal defect	132884	EVC2	ORPHA:289
HP:0001629	Ventricular septal defect	6926	TBX3	OMIM:181450
HP:0001629	Ventricular septal defect	6926	TBX3	ORPHA:3138
HP:0001629	Ventricular septal defect	4763	NF1	ORPHA:363700
HP:0001629	Ventricular septal defect	22884	WDR37	OMIM:618652
HP:0001629	Ventricular septal defect	7386	UQCRFS1	OMIM:618775
HP:0001629	Ventricular septal defect	23327	NEDD4L	OMIM:617201
HP:0001629	Ventricular septal defect	168507	PKD1L1	OMIM:617205
HP:0001629	Ventricular septal defect	93627	TBCK	ORPHA:488632
HP:0001629	Ventricular septal defect	2783	GNB2	OMIM:619503
HP:0001629	Ventricular septal defect	64132	XYLT2	ORPHA:85194
HP:0001629	Ventricular septal defect	4247	MGAT2	OMIM:212066
HP:0001629	Ventricular septal defect	4247	MGAT2	ORPHA:79329
HP:0001629	Ventricular septal defect	81794	ADAMTS10	OMIM:277600
HP:0001629	Ventricular septal defect	81794	ADAMTS10	ORPHA:3449
HP:0001629	Ventricular septal defect	3476	IGBP1	ORPHA:52055
HP:0001629	Ventricular septal defect	3476	IGBP1	OMIM:300472
HP:0001629	Ventricular septal defect	5337	PLD1	OMIM:212093
HP:0001629	Ventricular septal defect	8493	PPM1D	OMIM:617450
HP:0001629	Ventricular septal defect	56006	SMG9	OMIM:619995
HP:0001629	Ventricular septal defect	56006	SMG9	OMIM:616920
HP:0001629	Ventricular septal defect	1349	COX7B	OMIM:309801
HP:0001629	Ventricular septal defect	3052	HCCS	OMIM:309801
HP:0001629	Ventricular septal defect	54539	NDUFB11	OMIM:309801
HP:0001629	Ventricular septal defect	54914	FOCAD	OMIM:619991
HP:0001629	Ventricular septal defect	51633	OTUD6B	OMIM:617452
HP:0001629	Ventricular septal defect	51633	OTUD6B	ORPHA:505237
HP:0001629	Ventricular septal defect	27125	AFF4	OMIM:616368
HP:0001629	Ventricular septal defect	27125	AFF4	ORPHA:444077
HP:0001629	Ventricular septal defect	5604	MAP2K1	OMIM:615279
HP:0001629	Ventricular septal defect	5604	MAP2K1	OMIM:163950
HP:0001629	Ventricular septal defect	150468	CKAP2L	OMIM:272440
HP:0001629	Ventricular septal defect	150468	CKAP2L	ORPHA:3255
HP:0001629	Ventricular septal defect	6899	TBX1	ORPHA:1727
HP:0001629	Ventricular septal defect	6899	TBX1	OMIM:192430
HP:0001629	Ventricular septal defect	6899	TBX1	ORPHA:567
HP:0001629	Ventricular septal defect	6899	TBX1	OMIM:188400
HP:0001629	Ventricular septal defect	6134	RPL10	ORPHA:459070
HP:0001629	Ventricular septal defect	6134	RPL10	OMIM:300998
HP:0001629	Ventricular septal defect	415	ARSL	ORPHA:79345
HP:0001629	Ventricular septal defect	1859	DYRK1A	ORPHA:464311
HP:0001629	Ventricular septal defect	1859	DYRK1A	ORPHA:268261
HP:0001629	Ventricular septal defect	79796	ALG9	ORPHA:79328
HP:0001629	Ventricular septal defect	8314	BAP1	OMIM:619762
HP:0001629	Ventricular septal defect	7750	ZMYM2	OMIM:619522
HP:0001629	Ventricular septal defect	9158	FIBP	OMIM:617107
HP:0001629	Ventricular septal defect	9158	FIBP	ORPHA:500095
HP:0001629	Ventricular septal defect	200424	TET3	OMIM:618798
HP:0001629	Ventricular septal defect	2542	SLC37A4	OMIM:619525
HP:0001629	Ventricular septal defect	9772	TMEM94	OMIM:618316
HP:0001629	Ventricular septal defect	9993	DGCR2	OMIM:192430
HP:0001629	Ventricular septal defect	8220	ESS2	OMIM:192430
HP:0001629	Ventricular septal defect	8214	DGCR6	OMIM:192430
HP:0001629	Ventricular septal defect	54487	DGCR8	OMIM:192430
HP:0001629	Ventricular septal defect	51341	ZBTB7A	OMIM:619769
HP:0001629	Ventricular septal defect	79728	PALB2	OMIM:610832
HP:0001629	Ventricular septal defect	9968	MED12	OMIM:301068
HP:0001629	Ventricular septal defect	9968	MED12	OMIM:309520
HP:0001629	Ventricular septal defect	4621	MYH3	OMIM:178110
HP:0001629	Ventricular septal defect	775	CACNA1C	OMIM:601005
HP:0001629	Ventricular septal defect	2239	GPC4	ORPHA:373
HP:0001629	Ventricular septal defect	2239	GPC4	OMIM:312870
HP:0001629	Ventricular septal defect	2719	GPC3	ORPHA:373
HP:0001629	Ventricular septal defect	2719	GPC3	OMIM:312870
HP:0001629	Ventricular septal defect	23007	PLCH1	OMIM:619895
HP:0001629	Ventricular septal defect	79989	IFT56	OMIM:619534
HP:0001629	Ventricular septal defect	23483	TGDS	OMIM:616145
HP:0001629	Ventricular septal defect	23483	TGDS	ORPHA:1388
HP:0001629	Ventricular septal defect	285203	EOGT	OMIM:615297
HP:0001629	Ventricular septal defect	8565	YARS1	OMIM:619418
HP:0001629	Ventricular septal defect	54916	TMEM260	OMIM:617478
HP:0001629	Ventricular septal defect	25836	NIPBL	OMIM:122470
HP:0001629	Ventricular septal defect	25836	NIPBL	ORPHA:199
HP:0001629	Ventricular septal defect	23499	MACF1	OMIM:618325
HP:0001629	Ventricular septal defect	3930	LBR	OMIM:169400
HP:0001629	Ventricular septal defect	4087	SMAD2	OMIM:619657
HP:0001629	Ventricular septal defect	404672	GTF2H5	ORPHA:33364
HP:0001629	Ventricular septal defect	833	CARS1	ORPHA:33364
HP:0001629	Ventricular septal defect	2068	ERCC2	ORPHA:33364
HP:0001629	Ventricular septal defect	7737	RNF113A	ORPHA:33364
HP:0001629	Ventricular septal defect	136647	MPLKIP	ORPHA:33364
HP:0001629	Ventricular septal defect	136647	MPLKIP	OMIM:234050
HP:0001629	Ventricular septal defect	6897	TARS1	ORPHA:33364
HP:0001629	Ventricular septal defect	2071	ERCC3	ORPHA:33364
HP:0001629	Ventricular septal defect	2961	GTF2E2	ORPHA:33364
HP:0001629	Ventricular septal defect	54361	WNT4	OMIM:611812
HP:0001629	Ventricular septal defect	54361	WNT4	ORPHA:139466
HP:0001629	Ventricular septal defect	286204	CRB2	OMIM:219730
HP:0001629	Ventricular septal defect	9896	FIG4	OMIM:216340
HP:0001629	Ventricular septal defect	9896	FIG4	ORPHA:3472
HP:0001629	Ventricular septal defect	6135	RPL11	ORPHA:124
HP:0001629	Ventricular septal defect	6135	RPL11	OMIM:612562
HP:0001629	Ventricular septal defect	6138	RPL15	ORPHA:124
HP:0001629	Ventricular septal defect	6138	RPL15	OMIM:615550
HP:0001629	Ventricular septal defect	6229	RPS24	ORPHA:124
HP:0001629	Ventricular septal defect	6125	RPL5	ORPHA:124
HP:0001629	Ventricular septal defect	6125	RPL5	OMIM:612561
HP:0001629	Ventricular septal defect	6204	RPS10	ORPHA:124
HP:0001629	Ventricular septal defect	6224	RPS20	ORPHA:124
HP:0001629	Ventricular septal defect	6165	RPL35A	ORPHA:124
HP:0001629	Ventricular septal defect	6165	RPL35A	OMIM:612528
HP:0001629	Ventricular septal defect	2623	GATA1	ORPHA:124
HP:0001629	Ventricular septal defect	2623	GATA1	OMIM:190685
HP:0001629	Ventricular septal defect	6223	RPS19	ORPHA:124
HP:0001629	Ventricular septal defect	6223	RPS19	OMIM:105650
HP:0001629	Ventricular septal defect	6232	RPS27	ORPHA:124
HP:0001629	Ventricular septal defect	6231	RPS26	ORPHA:124
HP:0001629	Ventricular septal defect	6231	RPS26	OMIM:613309
HP:0001629	Ventricular septal defect	11224	RPL35	ORPHA:124
HP:0001629	Ventricular septal defect	6160	RPL31	ORPHA:124
HP:0001629	Ventricular septal defect	6218	RPS17	ORPHA:124
HP:0001629	Ventricular septal defect	6201	RPS7	ORPHA:124
HP:0001629	Ventricular septal defect	6155	RPL27	ORPHA:124
HP:0001629	Ventricular septal defect	6154	RPL26	ORPHA:124
HP:0001629	Ventricular septal defect	6210	RPS15A	ORPHA:124
HP:0001629	Ventricular septal defect	90121	TSR2	ORPHA:124
HP:0001629	Ventricular septal defect	6141	RPL18	ORPHA:124
HP:0001629	Ventricular septal defect	6235	RPS29	ORPHA:124
HP:0001629	Ventricular septal defect	6234	RPS28	ORPHA:124
HP:0001629	Ventricular septal defect	51816	ADA2	ORPHA:124
HP:0001629	Ventricular septal defect	6261	RYR1	OMIM:619542
HP:0001629	Ventricular septal defect	8295	TRRAP	OMIM:618454
HP:0001629	Ventricular septal defect	8621	CDK13	OMIM:617360
HP:0001629	Ventricular septal defect	93233	ODAD1	OMIM:615067
HP:0001629	Ventricular septal defect	1892	ECHS1	OMIM:616277
HP:0001629	Ventricular septal defect	1892	ECHS1	ORPHA:255241
HP:0001629	Ventricular septal defect	51117	COQ4	OMIM:616276
HP:0001629	Ventricular septal defect	1523	CUX1	OMIM:618330
HP:0001629	Ventricular septal defect	4212	MEIS2	ORPHA:261190
HP:0001629	Ventricular septal defect	4212	MEIS2	OMIM:600987
HP:0001629	Ventricular septal defect	115948	ODAD3	OMIM:616037
HP:0001629	Ventricular septal defect	55770	EXOC2	OMIM:619306
HP:0001629	Ventricular septal defect	6654	SOS1	OMIM:610733
HP:0001629	Ventricular septal defect	6792	CDKL5	ORPHA:1934
HP:0001629	Ventricular septal defect	3736	KCNA1	ORPHA:1934
HP:0001629	Ventricular septal defect	9091	PIGQ	ORPHA:1934
HP:0001629	Ventricular septal defect	2775	GNAO1	ORPHA:1934
HP:0001629	Ventricular septal defect	81603	TRIM8	ORPHA:1934
HP:0001629	Ventricular septal defect	2902	GRIN1	ORPHA:1934
HP:0001629	Ventricular septal defect	79751	SLC25A22	ORPHA:1934
HP:0001629	Ventricular septal defect	150094	SIK1	ORPHA:1934
HP:0001629	Ventricular septal defect	8573	CASK	ORPHA:1934
HP:0001629	Ventricular septal defect	23312	DMXL2	ORPHA:1934
HP:0001629	Ventricular septal defect	2917	GRM7	ORPHA:1934
HP:0001629	Ventricular septal defect	170302	ARX	ORPHA:1934
HP:0001629	Ventricular septal defect	170302	ARX	ORPHA:452
HP:0001629	Ventricular septal defect	11284	PNKP	ORPHA:1934
HP:0001629	Ventricular septal defect	6326	SCN2A	ORPHA:1934
HP:0001629	Ventricular septal defect	51227	PIGP	ORPHA:1934
HP:0001629	Ventricular septal defect	6324	SCN1B	ORPHA:1934
HP:0001629	Ventricular septal defect	4761	NEUROD2	ORPHA:1934
HP:0001629	Ventricular septal defect	7080	NKX2-1	OMIM:610978
HP:0001629	Ventricular septal defect	7080	NKX2-1	ORPHA:209905
HP:0001629	Ventricular septal defect	2263	FGFR2	OMIM:101200
HP:0001629	Ventricular septal defect	2737	GLI3	ORPHA:672
HP:0001629	Ventricular septal defect	2737	GLI3	OMIM:146510
HP:0001629	Ventricular septal defect	9361	LONP1	OMIM:600373
HP:0001629	Ventricular septal defect	9361	LONP1	ORPHA:79243
HP:0001629	Ventricular septal defect	9361	LONP1	ORPHA:1458
HP:0001629	Ventricular septal defect	22827	PUF60	ORPHA:508498
HP:0001629	Ventricular septal defect	22827	PUF60	ORPHA:508488
HP:0001629	Ventricular septal defect	22827	PUF60	OMIM:615583
HP:0001629	Ventricular septal defect	388015	RTL1	ORPHA:254534
HP:0001629	Ventricular septal defect	388015	RTL1	ORPHA:96334
HP:0001629	Ventricular septal defect	8788	DLK1	ORPHA:254534
HP:0001629	Ventricular septal defect	8788	DLK1	ORPHA:96334
HP:0001629	Ventricular septal defect	55384	MEG3	ORPHA:254534
HP:0001629	Ventricular septal defect	55384	MEG3	ORPHA:96334
HP:0001629	Ventricular septal defect	23013	SPEN	OMIM:619312
HP:0001629	Ventricular septal defect	123606	NIPA1	ORPHA:261183
HP:0001629	Ventricular septal defect	7283	TUBG1	ORPHA:261183
HP:0001629	Ventricular septal defect	81614	NIPA2	ORPHA:261183
HP:0001629	Ventricular septal defect	2187	FANCB	OMIM:300514
HP:0001629	Ventricular septal defect	23314	SATB2	ORPHA:251028
HP:0001629	Ventricular septal defect	57122	NUP107	OMIM:618348
HP:0001629	Ventricular septal defect	57122	NUP107	OMIM:616730
HP:0001629	Ventricular septal defect	4838	NODAL	OMIM:270100
HP:0001629	Ventricular septal defect	2627	GATA6	OMIM:600001
HP:0001629	Ventricular septal defect	2627	GATA6	ORPHA:2255
HP:0001629	Ventricular septal defect	55315	SLC29A3	OMIM:602782
HP:0001629	Ventricular septal defect	55315	SLC29A3	ORPHA:1782
HP:0001629	Ventricular septal defect	6299	SALL1	OMIM:107480
HP:0001629	Ventricular septal defect	7490	WT1	ORPHA:3097
HP:0001629	Ventricular septal defect	7490	WT1	OMIM:608978
HP:0001629	Ventricular septal defect	1387	CREBBP	ORPHA:353281
HP:0001629	Ventricular septal defect	1387	CREBBP	OMIM:180849
HP:0001629	Ventricular septal defect	1387	CREBBP	ORPHA:353277
HP:0001629	Ventricular septal defect	23395	LARS2	OMIM:617021
HP:0001629	Ventricular septal defect	6651	SON	OMIM:617140
HP:0001629	Ventricular septal defect	55215	FANCI	OMIM:609053
HP:0001629	Ventricular septal defect	2033	EP300	ORPHA:353284
HP:0001629	Ventricular septal defect	2033	EP300	OMIM:180849
HP:0001629	Ventricular septal defect	4041	LRP5	OMIM:259770
HP:0001629	Ventricular septal defect	9126	SMC3	OMIM:610759
HP:0001629	Ventricular septal defect	9126	SMC3	ORPHA:199
HP:0001629	Ventricular septal defect	79068	FTO	OMIM:612938
HP:0001629	Ventricular septal defect	8626	TP63	OMIM:106260
HP:0001629	Ventricular septal defect	473	RERE	ORPHA:494344
HP:0001629	Ventricular septal defect	473	RERE	OMIM:616975
HP:0001629	Ventricular septal defect	4784	NFIX	OMIM:602535
HP:0001629	Ventricular septal defect	4784	NFIX	ORPHA:447980
HP:0001629	Ventricular septal defect	57551	TAOK1	OMIM:619575
HP:0001629	Ventricular septal defect	8260	NAA10	OMIM:300855
HP:0001629	Ventricular septal defect	8260	NAA10	ORPHA:276432
HP:0001629	Ventricular septal defect	10082	GPC6	OMIM:258315
HP:0001629	Ventricular septal defect	1108	CHD4	OMIM:617159
HP:0001629	Ventricular septal defect	23389	MED13L	ORPHA:369891
HP:0001629	Ventricular septal defect	1312	COMT	ORPHA:567
HP:0001629	Ventricular septal defect	221037	JMJD1C	ORPHA:567
HP:0001629	Ventricular septal defect	2812	GP1BB	ORPHA:567
HP:0001629	Ventricular septal defect	6239	RREB1	ORPHA:567
HP:0001629	Ventricular septal defect	7290	HIRA	ORPHA:567
HP:0001629	Ventricular septal defect	9632	SEC24C	ORPHA:567
HP:0001629	Ventricular septal defect	7353	UFD1	ORPHA:567
HP:0001629	Ventricular septal defect	421	ARVCF	ORPHA:567
HP:0001629	Ventricular septal defect	3265	HRAS	ORPHA:3071
HP:0001629	Ventricular septal defect	3265	HRAS	OMIM:218040
HP:0001629	Ventricular septal defect	26276	VPS33B	OMIM:208085
HP:0001629	Ventricular septal defect	10524	KAT5	OMIM:619103
HP:0001629	Ventricular septal defect	372	ARCN1	OMIM:617164
HP:0001629	Ventricular septal defect	1822	ATN1	OMIM:618494
HP:0001629	Ventricular septal defect	4613	MYCN	OMIM:164280
HP:0001629	Ventricular septal defect	6304	SATB1	OMIM:619229
HP:0001629	Ventricular septal defect	4990	SIX6	OMIM:206900
HP:0001629	Ventricular septal defect	6657	SOX2	OMIM:206900
HP:0001629	Ventricular septal defect	6657	SOX2	ORPHA:77298
HP:0001629	Ventricular septal defect	8883	NAE1	OMIM:620210
HP:0001629	Ventricular septal defect	9343	EFTUD2	OMIM:610536
HP:0001629	Ventricular septal defect	57003	CCDC47	OMIM:618268
HP:0001629	Ventricular septal defect	5977	DPF2	OMIM:618027
HP:0001629	Ventricular septal defect	5977	DPF2	ORPHA:1465
HP:0001629	Ventricular septal defect	57061	HYMAI	ORPHA:96191
HP:0001629	Ventricular septal defect	5325	PLAGL1	ORPHA:96191
HP:0001629	Ventricular septal defect	10526	IPO8	OMIM:619472
HP:0001629	Ventricular septal defect	64840	PORCN	ORPHA:2092
HP:0001629	Ventricular septal defect	348180	CTU2	OMIM:618142
HP:0001629	Ventricular septal defect	340419	RSPO2	OMIM:618021
HP:0001629	Ventricular septal defect	145173	B3GLCT	OMIM:261540
HP:0001629	Ventricular septal defect	6711	SPTBN1	OMIM:619475
HP:0001629	Ventricular septal defect	26005	C2CD3	ORPHA:434179
HP:0001629	Ventricular septal defect	26005	C2CD3	OMIM:615948
HP:0001629	Ventricular septal defect	57514	ARHGAP31	OMIM:100300
HP:0001629	Ventricular septal defect	10283	CWC27	OMIM:250410
HP:0001629	Ventricular septal defect	10283	CWC27	ORPHA:166035
HP:0001629	Ventricular septal defect	2006	ELN	OMIM:123700
HP:0001629	Ventricular septal defect	2006	ELN	ORPHA:904
HP:0001629	Ventricular septal defect	2006	ELN	OMIM:194050
HP:0001629	Ventricular septal defect	7204	TRIO	OMIM:617061
HP:0001629	Ventricular septal defect	5290	PIK3CA	OMIM:602501
HP:0001629	Ventricular septal defect	285590	SH3PXD2B	OMIM:249420
HP:0001629	Ventricular septal defect	374879	ZNF699	OMIM:619488
HP:0001629	Ventricular septal defect	4841	NONO	OMIM:300967
HP:0001629	Ventricular septal defect	4841	NONO	ORPHA:466791
HP:0001629	Ventricular septal defect	51715	RAB23	OMIM:201000
HP:0001629	Ventricular septal defect	8318	CDC45	OMIM:617063
HP:0001629	Ventricular septal defect	29123	ANKRD11	ORPHA:261250
HP:0001629	Ventricular septal defect	28952	CCDC22	OMIM:300963
HP:0001629	Ventricular septal defect	28952	CCDC22	ORPHA:7
HP:0001629	Ventricular septal defect	90416	CCDC32	OMIM:619123
HP:0001629	Ventricular septal defect	118924	FRA10AC1	OMIM:620113
HP:0001629	Ventricular septal defect	4222	MEOX1	OMIM:214300
HP:0001629	Ventricular septal defect	4222	MEOX1	ORPHA:2345
HP:0001629	Ventricular septal defect	407975	MIR17HG	ORPHA:391646
HP:0001629	Ventricular septal defect	126792	B3GALT6	OMIM:271640
HP:0001629	Ventricular septal defect	745	MYRF	OMIM:618280
HP:0001629	Ventricular septal defect	10084	PQBP1	OMIM:309500
HP:0001629	Ventricular septal defect	2176	FANCC	OMIM:227645
HP:0001629	Ventricular septal defect	4256	MGP	OMIM:245150
HP:0001629	Ventricular septal defect	4256	MGP	ORPHA:85202
HP:0001629	Ventricular septal defect	5528	PPP2R5D	ORPHA:457279
HP:0001629	Ventricular septal defect	9487	PIGL	OMIM:280000
HP:0001629	Ventricular septal defect	9487	PIGL	ORPHA:3474
HP:0001629	Ventricular septal defect	5236	PGM1	OMIM:614921
HP:0001629	Ventricular septal defect	5297	PI4KA	ORPHA:436252
HP:0001629	Ventricular septal defect	57217	TTC7A	ORPHA:436252
HP:0001629	Ventricular septal defect	57217	TTC7A	OMIM:243150
HP:0001629	Ventricular septal defect	3643	INSR	ORPHA:769
HP:0001629	Ventricular septal defect	23522	KAT6B	ORPHA:3047
HP:0001629	Ventricular septal defect	23522	KAT6B	OMIM:606170
HP:0001629	Ventricular septal defect	219844	HYLS1	OMIM:236680
HP:0001629	Ventricular septal defect	9897	WASHC5	ORPHA:7
HP:0001629	Ventricular septal defect	9897	WASHC5	OMIM:220210
HP:0001629	Ventricular septal defect	55181	SMG8	OMIM:619268
HP:0001629	Ventricular septal defect	9652	SKIC3	ORPHA:84064
HP:0001629	Ventricular septal defect	9652	SKIC3	OMIM:222470
HP:0001629	Ventricular septal defect	6499	SKIC2	ORPHA:84064
HP:0001629	Ventricular septal defect	26123	TCTN3	OMIM:614815
HP:0001629	Ventricular septal defect	3480	IGF1R	OMIM:270450
HP:0001629	Ventricular septal defect	8085	KMT2D	OMIM:147920
HP:0001629	Ventricular septal defect	7403	KDM6A	OMIM:147920
HP:0001629	Ventricular septal defect	2294	FOXF1	OMIM:265380
HP:0001629	Ventricular septal defect	2294	FOXF1	ORPHA:210122
HP:0001629	Ventricular septal defect	137814	NKX2-6	ORPHA:3384
HP:0001629	Ventricular septal defect	23129	PLXND1	ORPHA:3384
HP:0001629	Ventricular septal defect	10262	SF3B4	OMIM:154400
HP:0001629	Ventricular septal defect	894	CCND2	ORPHA:83473
HP:0001629	Ventricular septal defect	5296	PIK3R2	ORPHA:83473
HP:0001629	Ventricular septal defect	5296	PIK3R2	OMIM:603387
HP:0001629	Ventricular septal defect	10000	AKT3	ORPHA:83473
HP:0001629	Ventricular septal defect	23241	PACS2	OMIM:618067
HP:0001629	Ventricular septal defect	26128	KIFBP	OMIM:609460
HP:0001629	Ventricular septal defect	83700	JAM3	OMIM:613730
HP:0001629	Ventricular septal defect	2657	GDF1	OMIM:613854
HP:0001629	Ventricular septal defect	2657	GDF1	OMIM:208530
HP:0001629	Ventricular septal defect	123263	MTFMT	OMIM:614947
HP:0001629	Ventricular septal defect	123263	MTFMT	ORPHA:255241
HP:0001629	Ventricular septal defect	8854	ALDH1A2	OMIM:620025
HP:0001629	Ventricular septal defect	10992	SF3B2	OMIM:164210
HP:0001629	Ventricular septal defect	8496	PPFIBP1	OMIM:620024
HP:0001629	Ventricular septal defect	9839	ZEB2	OMIM:235730
HP:0001629	Ventricular septal defect	9839	ZEB2	ORPHA:261552
HP:0001629	Ventricular septal defect	64324	NSD1	ORPHA:821
HP:0001629	Ventricular septal defect	64324	NSD1	OMIM:117550
HP:0001629	Ventricular septal defect	29072	SETD2	ORPHA:821
HP:0001629	Ventricular septal defect	10297	APC2	ORPHA:821
HP:0001629	Ventricular septal defect	4281	MID1	OMIM:300000
HP:0001629	Ventricular septal defect	4281	MID1	ORPHA:2745
HP:0001629	Ventricular septal defect	80232	WDR26	ORPHA:513456
HP:0001629	Ventricular septal defect	80232	WDR26	OMIM:617616
HP:0001629	Ventricular septal defect	613	BCR	ORPHA:261330
HP:0001629	Ventricular septal defect	1399	CRKL	ORPHA:261330
HP:0001629	Ventricular septal defect	5594	MAPK1	ORPHA:261330
HP:0001629	Ventricular septal defect	89910	UBE3B	OMIM:244450
HP:0001629	Ventricular septal defect	55249	YY1AP1	ORPHA:79094
HP:0001629	Ventricular septal defect	1717	DHCR7	ORPHA:818
HP:0001629	Ventricular septal defect	1717	DHCR7	OMIM:270400
HP:0001629	Ventricular septal defect	10225	CD96	OMIM:211750
HP:0001629	Ventricular septal defect	57492	ARID1B	OMIM:135900
HP:0001629	Ventricular septal defect	57492	ARID1B	ORPHA:1465
HP:0001629	Ventricular septal defect	5119	CHMP1A	OMIM:614961
HP:0001629	Ventricular septal defect	1889	ECE1	OMIM:613870
HP:0001629	Ventricular septal defect	93	ACVR2B	OMIM:613751
HP:0001629	Ventricular septal defect	1801	DPH1	OMIM:616901
HP:0001629	Ventricular septal defect	8772	FADD	OMIM:613759
HP:0001629	Ventricular septal defect	8772	FADD	ORPHA:306550
HP:0001629	Ventricular septal defect	6597	SMARCA4	OMIM:614609
HP:0001629	Ventricular septal defect	6597	SMARCA4	ORPHA:1465
HP:0001629	Ventricular septal defect	55697	VAC14	ORPHA:3472
HP:0001629	Ventricular septal defect	6885	MAP3K7	OMIM:157800
HP:0001629	Ventricular septal defect	55148	UBR7	OMIM:619189
HP:0001629	Ventricular septal defect	55636	CHD7	OMIM:214800
HP:0001629	Ventricular septal defect	63894	VIPAS39	OMIM:613404
HP:0001629	Ventricular septal defect	4036	LRP2	ORPHA:2143
HP:0001629	Ventricular septal defect	4036	LRP2	OMIM:222448
HP:0001629	Ventricular septal defect	53834	FGFRL1	OMIM:194190
HP:0001629	Ventricular septal defect	1487	CTBP1	OMIM:194190
HP:0001629	Ventricular septal defect	3954	LETM1	OMIM:194190
HP:0001629	Ventricular septal defect	7468	NSD2	OMIM:194190
HP:0001629	Ventricular septal defect	10815	CPLX1	OMIM:194190
HP:0001629	Ventricular septal defect	26227	PHGDH	OMIM:256520
HP:0001629	Ventricular septal defect	23118	TAB2	OMIM:614980
HP:0001629	Ventricular septal defect	4519	MT-CYB	ORPHA:137675
HP:0001629	Ventricular septal defect	5828	PEX2	OMIM:614866
HP:0001629	Ventricular septal defect	5828	PEX2	ORPHA:912
HP:0001629	Ventricular septal defect	6804	STX1A	ORPHA:904
HP:0001629	Ventricular septal defect	7461	CLIP2	ORPHA:904
HP:0001629	Ventricular septal defect	84277	DNAJC30	ORPHA:904
HP:0001629	Ventricular septal defect	8468	FKBP6	ORPHA:904
HP:0001629	Ventricular septal defect	5982	RFC2	ORPHA:904
HP:0001629	Ventricular septal defect	2969	GTF2I	ORPHA:904
HP:0001629	Ventricular septal defect	3984	LIMK1	ORPHA:904
HP:0001629	Ventricular septal defect	9569	GTF2IRD1	ORPHA:904
HP:0001629	Ventricular septal defect	155382	VPS37D	ORPHA:904
HP:0001629	Ventricular septal defect	155368	METTL27	ORPHA:904
HP:0001629	Ventricular septal defect	114049	BUD23	ORPHA:904
HP:0001629	Ventricular septal defect	7458	EIF4H	ORPHA:904
HP:0001629	Ventricular septal defect	84163	GTF2IRD2	ORPHA:904
HP:0001629	Ventricular septal defect	9275	BCL7B	ORPHA:904
HP:0001629	Ventricular septal defect	26608	TBL2	ORPHA:904
HP:0001629	Ventricular septal defect	653361	NCF1	ORPHA:904
HP:0001629	Ventricular septal defect	135886	TMEM270	ORPHA:904
HP:0001629	Ventricular septal defect	51085	MLXIPL	ORPHA:904
HP:0001629	Ventricular septal defect	51085	MLXIPL	OMIM:194050
HP:0001629	Ventricular septal defect	9031	BAZ1B	ORPHA:904
HP:0001629	Ventricular septal defect	83475	DOHH	OMIM:620066
HP:0001629	Ventricular septal defect	55719	SLF2	OMIM:620184
HP:0001629	Ventricular septal defect	10907	TXNL4A	OMIM:608572
HP:0001629	Ventricular septal defect	6558	SLC12A2	OMIM:619083
HP:0001629	Ventricular septal defect	10236	HNRNPR	OMIM:620073
HP:0001629	Ventricular septal defect	2200	FBN1	OMIM:608328
HP:0001629	Ventricular septal defect	2200	FBN1	ORPHA:3449
HP:0001629	Ventricular septal defect	6628	SNRPB	ORPHA:1393
HP:0001629	Ventricular septal defect	6628	SNRPB	OMIM:117650
HP:0001629	Ventricular septal defect	4089	SMAD4	OMIM:139210
HP:0001629	Ventricular septal defect	182	JAG1	OMIM:118450
HP:0001629	Ventricular septal defect	182	JAG1	OMIM:617992
HP:0001629	Ventricular septal defect	9409	PEX16	OMIM:614876
HP:0001629	Ventricular septal defect	9409	PEX16	ORPHA:912
HP:0001629	Ventricular septal defect	51244	CCDC174	OMIM:616816
HP:0001629	Ventricular septal defect	2065	ERBB3	OMIM:607598
HP:0001629	Ventricular septal defect	51322	WAC	ORPHA:284169
HP:0001629	Ventricular septal defect	10324	KLHL41	OMIM:615731
HP:0001629	Ventricular septal defect	4053	LTBP2	ORPHA:3449
HP:0001629	Ventricular septal defect	80184	CEP290	OMIM:611134
HP:0001629	Ventricular septal defect	140628	GATA5	OMIM:617912
HP:0001629	Ventricular septal defect	8195	MKKS	ORPHA:2473
HP:0001629	Ventricular septal defect	147372	CCBE1	OMIM:235510
HP:0001629	Ventricular septal defect	4851	NOTCH1	OMIM:109730
HP:0001629	Ventricular septal defect	157570	ESCO2	OMIM:268300
HP:0001629	Ventricular septal defect	171023	ASXL1	OMIM:605039
HP:0001629	Ventricular septal defect	2317	FLNB	OMIM:150250
HP:0001629	Ventricular septal defect	79228	THOC6	OMIM:613680
HP:0001629	Ventricular septal defect	2303	FOXC2	OMIM:153400
HP:0001629	Ventricular septal defect	667	DST	OMIM:614653
HP:0001629	Ventricular septal defect	9573	GDF3	ORPHA:2345
HP:0001629	Ventricular septal defect	392255	GDF6	ORPHA:2345
HP:0001629	Ventricular septal defect	55690	PACS1	ORPHA:329224
HP:0001629	Ventricular septal defect	7319	UBE2A	ORPHA:163956
HP:0001629	Ventricular septal defect	55112	DYNC2I1	OMIM:615503
HP:0001629	Ventricular septal defect	63895	PIEZO2	ORPHA:2461
HP:0001629	Ventricular septal defect	55670	PEX26	ORPHA:912
HP:0001629	Ventricular septal defect	5824	PEX19	ORPHA:912
HP:0001629	Ventricular septal defect	8504	PEX3	ORPHA:912
HP:0001629	Ventricular septal defect	8799	PEX11B	ORPHA:912
HP:0001629	Ventricular septal defect	5190	PEX6	ORPHA:912
HP:0001629	Ventricular septal defect	5830	PEX5	ORPHA:912
HP:0001629	Ventricular septal defect	5193	PEX12	ORPHA:912
HP:0001629	Ventricular septal defect	5194	PEX13	ORPHA:912
HP:0001629	Ventricular septal defect	5195	PEX14	ORPHA:912
HP:0001629	Ventricular septal defect	5192	PEX10	ORPHA:912
HP:0001629	Ventricular septal defect	6888	TALDO1	OMIM:606003
HP:0001629	Ventricular septal defect	10735	STAG2	OMIM:301043
HP:0001629	Ventricular septal defect	8243	SMC1A	OMIM:301044
HP:0001629	Ventricular septal defect	8243	SMC1A	ORPHA:199
HP:0001629	Ventricular septal defect	7026	NR2F2	OMIM:618901
HP:0001629	Ventricular septal defect	7026	NR2F2	OMIM:615779
HP:0001629	Ventricular septal defect	11020	IFT27	OMIM:615996
HP:0001629	Ventricular septal defect	100151683	RNU4ATAC	OMIM:210710
HP:0001629	Ventricular septal defect	100151683	RNU4ATAC	OMIM:616651
HP:0001629	Ventricular septal defect	5648	MASP1	OMIM:257920
HP:0001629	Ventricular septal defect	26160	IFT172	OMIM:615630
HP:0001629	Ventricular septal defect	1788	DNMT3A	OMIM:615879
HP:0001629	Ventricular septal defect	65062	TMEM237	OMIM:614424
HP:0001629	Ventricular septal defect	85358	SHANK3	OMIM:606232
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:108900
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:614432
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:614435
HP:0001629	Ventricular septal defect	546	ATRX	OMIM:301040
HP:0001629	Ventricular septal defect	57167	SALL4	OMIM:607323
HP:0001629	Ventricular septal defect	55593	OTUD5	OMIM:301056
HP:0001629	Ventricular septal defect	1837	DTNA	OMIM:604169
HP:0001629	Ventricular septal defect	57465	TBC1D24	OMIM:220500
HP:0001629	Ventricular septal defect	4854	NOTCH3	OMIM:130720
HP:0001629	Ventricular septal defect	4854	NOTCH3	ORPHA:2789
HP:0001629	Ventricular septal defect	83479	DDX59	OMIM:174300
HP:0001629	Ventricular septal defect	10560	SLC19A2	ORPHA:49827
HP:0001629	Ventricular septal defect	10560	SLC19A2	OMIM:249270
HP:0001629	Ventricular septal defect	5915	RARB	OMIM:615524
HP:0001629	Ventricular septal defect	5053	PAH	ORPHA:2209
HP:0001629	Ventricular septal defect	7547	ZIC3	OMIM:306955
HP:0001629	Ventricular septal defect	6598	SMARCB1	ORPHA:1465
HP:0001629	Ventricular septal defect	8289	ARID1A	ORPHA:1465
HP:0001629	Ventricular septal defect	6601	SMARCC2	ORPHA:1465
HP:0001629	Ventricular septal defect	6602	SMARCD1	ORPHA:1465
HP:0001629	Ventricular septal defect	196528	ARID2	ORPHA:1465
HP:0001629	Ventricular septal defect	6605	SMARCE1	ORPHA:1465
HP:0001629	Ventricular septal defect	6664	SOX11	ORPHA:1465
HP:0001629	Ventricular septal defect	5160	PDHA1	ORPHA:79243
HP:0001629	Ventricular septal defect	5160	PDHA1	ORPHA:255241
HP:0001629	Ventricular septal defect	6606	SMN1	OMIM:253300
HP:0001629	Ventricular septal defect	3209	HOXA13	ORPHA:2438
HP:0001629	Ventricular septal defect	5422	POLA1	OMIM:301030
HP:0001629	Ventricular septal defect	79576	NKAP	OMIM:301039
HP:0001629	Ventricular septal defect	25	ABL1	OMIM:617602
HP:0001629	Ventricular septal defect	57511	COG6	OMIM:614576
HP:0001629	Ventricular septal defect	2260	FGFR1	OMIM:613001
HP:0001629	Ventricular septal defect	2313	FLI1	ORPHA:2308
HP:0001629	Ventricular septal defect	7074	TIAM1	OMIM:619908
HP:0001629	Ventricular septal defect	59336	PRDM13	OMIM:619909
HP:0001629	Ventricular septal defect	23476	BRD4	ORPHA:199
HP:0001629	Ventricular septal defect	55869	HDAC8	ORPHA:199
HP:0001629	Ventricular septal defect	5885	RAD21	ORPHA:199
HP:0001629	Ventricular septal defect	157680	VPS13B	ORPHA:193
HP:0001629	Ventricular septal defect	10367	MICU1	OMIM:615673
HP:0001629	Ventricular septal defect	3845	KRAS	OMIM:609942
HP:0001629	Ventricular septal defect	54880	BCOR	OMIM:300166
HP:0001629	Ventricular septal defect	55617	TASP1	OMIM:618950
HP:0001629	Ventricular septal defect	1857	DVL3	OMIM:616894
HP:0001629	Ventricular septal defect	10293	TRAIP	OMIM:616777
HP:0001629	Ventricular septal defect	9702	CEP57	OMIM:614114
HP:0001629	Ventricular septal defect	202018	TAPT1	OMIM:616897
HP:0001629	Ventricular septal defect	5500	PPP1CB	OMIM:617506
HP:0001629	Ventricular septal defect	93649	MYOCD	OMIM:618719
HP:0001629	Ventricular septal defect	139285	AMER1	OMIM:300373
HP:0001629	Ventricular septal defect	6389	SDHA	ORPHA:255241
HP:0001629	Ventricular septal defect	80704	SLC19A3	ORPHA:255241
HP:0001629	Ventricular septal defect	91942	NDUFAF2	ORPHA:255241
HP:0001629	Ventricular septal defect	6834	SURF1	ORPHA:255241
HP:0001629	Ventricular septal defect	4723	NDUFV1	ORPHA:255241
HP:0001629	Ventricular septal defect	55572	FOXRED1	ORPHA:255241
HP:0001629	Ventricular septal defect	4729	NDUFV2	ORPHA:255241
HP:0001629	Ventricular septal defect	55967	NDUFA12	ORPHA:255241
HP:0001629	Ventricular septal defect	51204	TACO1	ORPHA:255241
HP:0001629	Ventricular septal defect	4720	NDUFS2	ORPHA:255241
HP:0001629	Ventricular septal defect	4724	NDUFS4	ORPHA:255241
HP:0001629	Ventricular septal defect	4728	NDUFS8	ORPHA:255241
HP:0001629	Ventricular septal defect	137682	NDUFAF6	ORPHA:255241
HP:0001629	Ventricular septal defect	4722	NDUFS3	ORPHA:255241
HP:0001629	Ventricular septal defect	79133	NDUFAF5	ORPHA:255241
HP:0001629	Ventricular septal defect	100131801	PET100	ORPHA:255241
HP:0001629	Ventricular septal defect	1355	COX15	ORPHA:255241
HP:0001629	Ventricular septal defect	51079	NDUFA13	ORPHA:255241
HP:0001629	Ventricular septal defect	374291	NDUFS7	ORPHA:255241
HP:0001629	Ventricular septal defect	4705	NDUFA10	ORPHA:255241
HP:0001629	Ventricular septal defect	51601	LIPT1	ORPHA:255241
HP:0001629	Ventricular septal defect	4719	NDUFS1	ORPHA:255241
HP:0001629	Ventricular septal defect	4695	NDUFA2	ORPHA:255241
HP:0001629	Ventricular septal defect	4697	NDUFA4	ORPHA:255241
HP:0001629	Ventricular septal defect	4704	NDUFA9	ORPHA:255241
HP:0001629	Ventricular septal defect	5879	RAC1	OMIM:617751
HP:0001629	Ventricular septal defect	5879	RAC1	ORPHA:500159
HP:0001629	Ventricular septal defect	10274	STAG1	OMIM:617635
HP:0001629	Ventricular septal defect	51780	KDM3B	OMIM:618846
HP:0001629	Ventricular septal defect	1663	DDX11	OMIM:613398
HP:0001629	Ventricular septal defect	10312	TCIRG1	ORPHA:1782
HP:0001629	Ventricular septal defect	8792	TNFRSF11A	ORPHA:1782
HP:0001629	Ventricular septal defect	5718	PSMD12	OMIM:617516
HP:0001629	Ventricular septal defect	9439	MED23	OMIM:614249
HP:0001629	Ventricular septal defect	9939	RBM8A	OMIM:274000
HP:0001629	Ventricular septal defect	64131	XYLT1	ORPHA:1425
HP:0001629	Ventricular septal defect	124583	CANT1	ORPHA:1425
HP:0001629	Ventricular septal defect	37	ACADVL	ORPHA:26793
HP:0001629	Ventricular septal defect	7043	TGFB3	OMIM:615582
HP:0001629	Ventricular septal defect	7372	UMPS	OMIM:258900
HP:0001629	Ventricular septal defect	84148	KAT8	OMIM:618974
HP:0001629	Ventricular septal defect	6655	SOS2	OMIM:616559
HP:0001629	Ventricular septal defect	100128908	CIROP	OMIM:619702
HP:0001629	Ventricular septal defect	58499	ZNF462	OMIM:618619
HP:0001629	Ventricular septal defect	5781	PTPN11	OMIM:163950
HP:0001629	Ventricular septal defect	673	BRAF	OMIM:163950
HP:0001629	Ventricular septal defect	1802	DPH2	OMIM:620062
HP:0001629	Ventricular septal defect	6123	RPL3L	OMIM:619371
HP:0001629	Ventricular septal defect	5700	PSMC1	OMIM:620071
HP:0001629	Ventricular septal defect	5515	PPP2CA	OMIM:618354
HP:0001629	Ventricular septal defect	4607	MYBPC3	OMIM:115197
HP:0001629	Ventricular septal defect	131118	DNAJC19	ORPHA:66634
HP:0001629	Ventricular septal defect	23545	ATP6V0A2	OMIM:278250
HP:0001629	Ventricular septal defect	51729	WBP11	OMIM:619227
HP:0001629	Ventricular septal defect	439	GET3	OMIM:620203
HP:0001629	Ventricular septal defect	374969	SVBP	OMIM:618569
HP:0001629	Ventricular septal defect	79087	ALG12	ORPHA:79324
HP:0001629	Ventricular septal defect	51611	DPH5	OMIM:620070
HP:0001629	Ventricular septal defect	1828	DSG1	OMIM:615508
HP:0001629	Ventricular septal defect	3417	IDH1	ORPHA:99646
HP:0001629	Ventricular septal defect	2271	FH	OMIM:606812
HP:0001629	Ventricular septal defect	91949	COG7	OMIM:608779
HP:0001629	Ventricular septal defect	4718	NDUFC2	OMIM:619170
HP:0001629	Ventricular septal defect	808	CALM3	OMIM:618782
HP:0001629	Ventricular septal defect	650	BMP2	OMIM:617877
HP:0001629	Ventricular septal defect	23511	NUP188	OMIM:618804
HP:0001629	Ventricular septal defect	1107	CHD3	OMIM:618205
HP:0001629	Ventricular septal defect	22872	SEC31A	OMIM:618651
HP:0001629	Ventricular septal defect	2702	GJA5	OMIM:612474
HP:0001629	Ventricular septal defect	2703	GJA8	OMIM:612474
HP:0001629	Ventricular septal defect	10370	CITED2	OMIM:614431
HP:0001629	Ventricular septal defect	4625	MYH7	OMIM:613426
HP:0001629	Ventricular septal defect	79053	ALG8	OMIM:608104
HP:0001629	Ventricular septal defect	4713	NDUFB7	OMIM:620135
HP:0011841	Ventricular flutter	6331	SCN5A	OMIM:603830
HP:0011843	Abnormal musculoskeletal physiology	6197	RPS6KA3	OMIM:303600
HP:0011843	Abnormal musculoskeletal physiology	9791	PTDSS1	OMIM:151050
HP:0011843	Abnormal musculoskeletal physiology	2245	FGD1	OMIM:305400
HP:0011843	Abnormal musculoskeletal physiology	9759	HDAC4	OMIM:619797
HP:0011843	Abnormal musculoskeletal physiology	3756	KCNH1	OMIM:135500
HP:0011843	Abnormal musculoskeletal physiology	57479	PRR12	OMIM:619539
HP:0011843	Abnormal musculoskeletal physiology	6611	SMS	OMIM:309583
HP:0011843	Abnormal musculoskeletal physiology	673	BRAF	OMIM:115150
HP:0011843	Abnormal musculoskeletal physiology	91461	PKDCC	OMIM:618821
HP:0011843	Abnormal musculoskeletal physiology	9968	MED12	OMIM:309520
HP:0011843	Abnormal musculoskeletal physiology	92344	GORAB	OMIM:231070
HP:0011843	Abnormal musculoskeletal physiology	54499	TMCO1	OMIM:213980
HP:0011843	Abnormal musculoskeletal physiology	387733	IFITM5	OMIM:610967
HP:0011843	Abnormal musculoskeletal physiology	51633	OTUD6B	ORPHA:505237
HP:0011843	Abnormal musculoskeletal physiology	23114	NFASC	OMIM:618356
HP:0011843	Abnormal musculoskeletal physiology	1289	COL5A1	OMIM:130000
HP:0011843	Abnormal musculoskeletal physiology	54872	PIGG	ORPHA:488635
HP:0011843	Abnormal musculoskeletal physiology	1278	COL1A2	OMIM:617821
HP:0011843	Abnormal musculoskeletal physiology	427	ASAH1	OMIM:228000
HP:0011843	Abnormal musculoskeletal physiology	9373	PLAA	ORPHA:521426
HP:0011843	Abnormal musculoskeletal physiology	2783	GNB2	OMIM:619503
HP:0011843	Abnormal musculoskeletal physiology	3265	HRAS	OMIM:218040
HP:0011843	Abnormal musculoskeletal physiology	2200	FBN1	OMIM:616914
HP:0011843	Abnormal musculoskeletal physiology	121340	SP7	OMIM:613849
HP:0011843	Abnormal musculoskeletal physiology	3549	IHH	OMIM:112500
HP:0011843	Abnormal musculoskeletal physiology	3549	IHH	ORPHA:93388
HP:0011843	Abnormal musculoskeletal physiology	4593	MUSK	OMIM:208150
HP:0011843	Abnormal musculoskeletal physiology	29895	MYL11	OMIM:619110
HP:0011843	Abnormal musculoskeletal physiology	57863	CADM3	OMIM:619519
HP:0011843	Abnormal musculoskeletal physiology	4313	MMP2	OMIM:259600
HP:0011843	Abnormal musculoskeletal physiology	4921	DDR2	OMIM:618175
HP:0011843	Abnormal musculoskeletal physiology	8449	DHX16	OMIM:618733
HP:0011843	Abnormal musculoskeletal physiology	5566	PRKACA	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	5567	PRKACB	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	2735	GLI1	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	2121	EVC	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	2121	EVC	OMIM:225500
HP:0011843	Abnormal musculoskeletal physiology	51626	DYNC2LI1	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	132884	EVC2	ORPHA:289
HP:0011843	Abnormal musculoskeletal physiology	132884	EVC2	OMIM:225500
HP:0011843	Abnormal musculoskeletal physiology	64374	SIL1	OMIM:248800
HP:0011843	Abnormal musculoskeletal physiology	2218	FKTN	ORPHA:272
HP:0011843	Abnormal musculoskeletal physiology	2218	FKTN	OMIM:611588
HP:0011843	Abnormal musculoskeletal physiology	2218	FKTN	OMIM:253800
HP:0011843	Abnormal musculoskeletal physiology	3763	KCNJ6	ORPHA:435628
HP:0011843	Abnormal musculoskeletal physiology	3763	KCNJ6	OMIM:614098
HP:0011843	Abnormal musculoskeletal physiology	9131	AIFM1	OMIM:300232
HP:0011843	Abnormal musculoskeletal physiology	3094	HINT1	ORPHA:324442
HP:0011843	Abnormal musculoskeletal physiology	5393	EXOSC9	OMIM:618065
HP:0011843	Abnormal musculoskeletal physiology	55823	VPS11	OMIM:616683
HP:0011843	Abnormal musculoskeletal physiology	5339	PLEC	ORPHA:158684
HP:0011843	Abnormal musculoskeletal physiology	5339	PLEC	OMIM:612138
HP:0011843	Abnormal musculoskeletal physiology	5339	PLEC	OMIM:613723
HP:0011843	Abnormal musculoskeletal physiology	2895	GRID2	OMIM:616204
HP:0011843	Abnormal musculoskeletal physiology	775	CACNA1C	OMIM:620029
HP:0011843	Abnormal musculoskeletal physiology	4047	LSS	ORPHA:2850
HP:0011843	Abnormal musculoskeletal physiology	197	AHSG	ORPHA:2850
HP:0011843	Abnormal musculoskeletal physiology	3694	ITGB6	ORPHA:2850
HP:0011843	Abnormal musculoskeletal physiology	5352	PLOD2	OMIM:609220
HP:0011843	Abnormal musculoskeletal physiology	64324	NSD1	ORPHA:821
HP:0011843	Abnormal musculoskeletal physiology	29072	SETD2	ORPHA:821
HP:0011843	Abnormal musculoskeletal physiology	10297	APC2	ORPHA:821
HP:0011843	Abnormal musculoskeletal physiology	2067	ERCC1	ORPHA:90322
HP:0011843	Abnormal musculoskeletal physiology	1291	COL6A1	ORPHA:75840
HP:0011843	Abnormal musculoskeletal physiology	1291	COL6A1	OMIM:254090
HP:0011843	Abnormal musculoskeletal physiology	1291	COL6A1	ORPHA:610
HP:0011843	Abnormal musculoskeletal physiology	1293	COL6A3	ORPHA:75840
HP:0011843	Abnormal musculoskeletal physiology	1293	COL6A3	OMIM:254090
HP:0011843	Abnormal musculoskeletal physiology	1293	COL6A3	ORPHA:610
HP:0011843	Abnormal musculoskeletal physiology	4072	EPCAM	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	4292	MLH1	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	5395	PMS2	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	27030	MLH3	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	22909	FAN1	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	7048	TGFBR2	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	3845	KRAS	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	5290	PIK3CA	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	2956	MSH6	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	5378	PMS1	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	4436	MSH2	ORPHA:144
HP:0011843	Abnormal musculoskeletal physiology	4312	MMP1	ORPHA:79408
HP:0011843	Abnormal musculoskeletal physiology	4312	MMP1	OMIM:226600
HP:0011843	Abnormal musculoskeletal physiology	1294	COL7A1	ORPHA:79408
HP:0011843	Abnormal musculoskeletal physiology	1294	COL7A1	OMIM:226600
HP:0011843	Abnormal musculoskeletal physiology	1294	COL7A1	ORPHA:89842
HP:0011843	Abnormal musculoskeletal physiology	10479	SLC9A6	OMIM:300243
HP:0011843	Abnormal musculoskeletal physiology	6775	STAT4	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	3560	IL2RB	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	79722	ANKRD55	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	26191	PTPN22	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	919	CD247	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	3559	IL2RA	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	5771	PTPN2	ORPHA:85408
HP:0011843	Abnormal musculoskeletal physiology	8443	GNPAT	OMIM:222765
HP:0011843	Abnormal musculoskeletal physiology	58	ACTA1	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	58	ACTA1	ORPHA:171433
HP:0011843	Abnormal musculoskeletal physiology	58	ACTA1	ORPHA:171430
HP:0011843	Abnormal musculoskeletal physiology	58	ACTA1	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	58	ACTA1	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	7169	TPM2	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	7169	TPM2	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	7169	TPM2	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	7169	TPM2	OMIM:609285
HP:0011843	Abnormal musculoskeletal physiology	4703	NEB	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	4703	NEB	ORPHA:171433
HP:0011843	Abnormal musculoskeletal physiology	4703	NEB	ORPHA:171430
HP:0011843	Abnormal musculoskeletal physiology	4703	NEB	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	4703	NEB	OMIM:256030
HP:0011843	Abnormal musculoskeletal physiology	10324	KLHL41	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	10324	KLHL41	ORPHA:171433
HP:0011843	Abnormal musculoskeletal physiology	10324	KLHL41	ORPHA:171430
HP:0011843	Abnormal musculoskeletal physiology	10324	KLHL41	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	56203	LMOD3	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	56203	LMOD3	ORPHA:171430
HP:0011843	Abnormal musculoskeletal physiology	56203	LMOD3	OMIM:616165
HP:0011843	Abnormal musculoskeletal physiology	1073	CFL2	ORPHA:171436
HP:0011843	Abnormal musculoskeletal physiology	54968	TMEM70	ORPHA:1194
HP:0011843	Abnormal musculoskeletal physiology	3020	H3-3A	OMIM:619720
HP:0011843	Abnormal musculoskeletal physiology	6536	SLC6A9	OMIM:617301
HP:0011843	Abnormal musculoskeletal physiology	131377	KLHL40	ORPHA:171430
HP:0011843	Abnormal musculoskeletal physiology	131377	KLHL40	OMIM:615348
HP:0011843	Abnormal musculoskeletal physiology	1785	DNM2	OMIM:615368
HP:0011843	Abnormal musculoskeletal physiology	1785	DNM2	OMIM:160150
HP:0011843	Abnormal musculoskeletal physiology	64218	SEMA4A	ORPHA:440437
HP:0011843	Abnormal musculoskeletal physiology	657	BMPR1A	ORPHA:440437
HP:0011843	Abnormal musculoskeletal physiology	6224	RPS20	ORPHA:440437
HP:0011843	Abnormal musculoskeletal physiology	65082	VPS33A	OMIM:617303
HP:0011843	Abnormal musculoskeletal physiology	65082	VPS33A	ORPHA:505248
HP:0011843	Abnormal musculoskeletal physiology	25914	RTTN	OMIM:614833
HP:0011843	Abnormal musculoskeletal physiology	84197	POMK	OMIM:615249
HP:0011843	Abnormal musculoskeletal physiology	128486	FITM2	OMIM:618635
HP:0011843	Abnormal musculoskeletal physiology	23431	AP4E1	OMIM:613744
HP:0011843	Abnormal musculoskeletal physiology	3908	LAMA2	ORPHA:258
HP:0011843	Abnormal musculoskeletal physiology	3908	LAMA2	OMIM:607855
HP:0011843	Abnormal musculoskeletal physiology	29925	GMPPB	ORPHA:353327
HP:0011843	Abnormal musculoskeletal physiology	2673	GFPT1	ORPHA:353327
HP:0011843	Abnormal musculoskeletal physiology	1798	DPAGT1	ORPHA:353327
HP:0011843	Abnormal musculoskeletal physiology	1798	DPAGT1	ORPHA:86309
HP:0011843	Abnormal musculoskeletal physiology	1798	DPAGT1	OMIM:608093
HP:0011843	Abnormal musculoskeletal physiology	85365	ALG2	ORPHA:353327
HP:0011843	Abnormal musculoskeletal physiology	199857	ALG14	ORPHA:353327
HP:0011843	Abnormal musculoskeletal physiology	6595	SMARCA2	OMIM:619293
HP:0011843	Abnormal musculoskeletal physiology	54332	GDAP1	OMIM:607706
HP:0011843	Abnormal musculoskeletal physiology	54332	GDAP1	ORPHA:101097
HP:0011843	Abnormal musculoskeletal physiology	23250	ATP11A	OMIM:619851
HP:0011843	Abnormal musculoskeletal physiology	7345	UCHL1	OMIM:615491
HP:0011843	Abnormal musculoskeletal physiology	274	BIN1	OMIM:255200
HP:0011843	Abnormal musculoskeletal physiology	9469	CHST3	OMIM:143095
HP:0011843	Abnormal musculoskeletal physiology	9469	CHST3	ORPHA:263463
HP:0011843	Abnormal musculoskeletal physiology	50814	NSDHL	OMIM:308050
HP:0011843	Abnormal musculoskeletal physiology	1889	ECE1	OMIM:613870
HP:0011843	Abnormal musculoskeletal physiology	55157	DARS2	ORPHA:137898
HP:0011843	Abnormal musculoskeletal physiology	55157	DARS2	OMIM:611105
HP:0011843	Abnormal musculoskeletal physiology	4604	MYBPC1	OMIM:618524
HP:0011843	Abnormal musculoskeletal physiology	4604	MYBPC1	OMIM:614915
HP:0011843	Abnormal musculoskeletal physiology	8560	DEGS1	OMIM:618404
HP:0011843	Abnormal musculoskeletal physiology	6445	SGCG	OMIM:253700
HP:0011843	Abnormal musculoskeletal physiology	546	ATRX	ORPHA:847
HP:0011843	Abnormal musculoskeletal physiology	5191	PEX7	OMIM:215100
HP:0011843	Abnormal musculoskeletal physiology	3848	KRT1	ORPHA:79503
HP:0011843	Abnormal musculoskeletal physiology	56984	PSMG2	OMIM:619183
HP:0011843	Abnormal musculoskeletal physiology	9839	ZEB2	ORPHA:261552
HP:0011843	Abnormal musculoskeletal physiology	9839	ZEB2	ORPHA:261537
HP:0011843	Abnormal musculoskeletal physiology	8726	EED	OMIM:617561
HP:0011843	Abnormal musculoskeletal physiology	57190	SELENON	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	57190	SELENON	OMIM:602771
HP:0011843	Abnormal musculoskeletal physiology	4633	MYL2	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	3679	ITGA7	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	9200	HACD1	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	51776	MAP3K20	ORPHA:2020
HP:0011843	Abnormal musculoskeletal physiology	22872	SEC31A	OMIM:618651
HP:0011843	Abnormal musculoskeletal physiology	833	CARS1	OMIM:618891
HP:0011843	Abnormal musculoskeletal physiology	84314	TMEM107	OMIM:617562
HP:0011843	Abnormal musculoskeletal physiology	10682	EBP	ORPHA:35173
HP:0011843	Abnormal musculoskeletal physiology	1641	DCX	ORPHA:2148
HP:0011843	Abnormal musculoskeletal physiology	28514	DLL1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	28514	DLL1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	28514	DLL1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	28514	DLL1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	2253	FGF8	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	2253	FGF8	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	2253	FGF8	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	2253	FGF8	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	6496	SIX3	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	6496	SIX3	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	6496	SIX3	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	6496	SIX3	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	7050	TGIF1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	7050	TGIF1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	7050	TGIF1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	7050	TGIF1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	4838	NODAL	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	4838	NODAL	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	4838	NODAL	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	4838	NODAL	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	7546	ZIC2	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	7546	ZIC2	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	7546	ZIC2	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	7546	ZIC2	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	6491	STIL	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	6491	STIL	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	6491	STIL	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	6491	STIL	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	2619	GAS1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	2619	GAS1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	2619	GAS1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	2619	GAS1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	84976	DISP1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	84976	DISP1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	84976	DISP1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	84976	DISP1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	2736	GLI2	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	2736	GLI2	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	2736	GLI2	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	2736	GLI2	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	8928	FOXH1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	8928	FOXH1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	8928	FOXH1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	8928	FOXH1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	5727	PTCH1	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	5727	PTCH1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	5727	PTCH1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	5727	PTCH1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	50937	CDON	ORPHA:93926
HP:0011843	Abnormal musculoskeletal physiology	50937	CDON	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	50937	CDON	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	50937	CDON	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	4632	MYL1	OMIM:618414
HP:0011843	Abnormal musculoskeletal physiology	2260	FGFR1	ORPHA:93924
HP:0011843	Abnormal musculoskeletal physiology	2260	FGFR1	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	2752	GLUL	OMIM:610015
HP:0011843	Abnormal musculoskeletal physiology	23007	PLCH1	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	10735	STAG2	ORPHA:93925
HP:0011843	Abnormal musculoskeletal physiology	10735	STAG2	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	3782	KCNN3	OMIM:618658
HP:0011843	Abnormal musculoskeletal physiology	5373	PMM2	OMIM:212065
HP:0011843	Abnormal musculoskeletal physiology	10585	POMT1	OMIM:609308
HP:0011843	Abnormal musculoskeletal physiology	10585	POMT1	OMIM:613155
HP:0011843	Abnormal musculoskeletal physiology	11285	B4GALT7	OMIM:130070
HP:0011843	Abnormal musculoskeletal physiology	11285	B4GALT7	ORPHA:75496
HP:0011843	Abnormal musculoskeletal physiology	10717	AP4B1	OMIM:614066
HP:0011843	Abnormal musculoskeletal physiology	149371	EXOC8	OMIM:619076
HP:0011843	Abnormal musculoskeletal physiology	11154	AP4S1	OMIM:614067
HP:0011843	Abnormal musculoskeletal physiology	2629	GBA1	ORPHA:85212
HP:0011843	Abnormal musculoskeletal physiology	2629	GBA1	ORPHA:77260
HP:0011843	Abnormal musculoskeletal physiology	55699	IARS2	OMIM:616007
HP:0011843	Abnormal musculoskeletal physiology	9289	ADGRG1	ORPHA:98889
HP:0011843	Abnormal musculoskeletal physiology	5297	PI4KA	ORPHA:98889
HP:0011843	Abnormal musculoskeletal physiology	27286	SRPX2	ORPHA:98889
HP:0011843	Abnormal musculoskeletal physiology	11128	POLR3A	OMIM:264090
HP:0011843	Abnormal musculoskeletal physiology	64837	KLC2	OMIM:609541
HP:0011843	Abnormal musculoskeletal physiology	26137	ZBTB20	OMIM:259050
HP:0011843	Abnormal musculoskeletal physiology	26137	ZBTB20	ORPHA:3042
HP:0011843	Abnormal musculoskeletal physiology	64419	MTMR14	OMIM:160150
HP:0011843	Abnormal musculoskeletal physiology	57152	SLURP1	ORPHA:87503
HP:0011843	Abnormal musculoskeletal physiology	27086	FOXP1	ORPHA:391372
HP:0011843	Abnormal musculoskeletal physiology	773	CACNA1A	OMIM:617106
HP:0011843	Abnormal musculoskeletal physiology	6506	SLC1A2	OMIM:617105
HP:0011843	Abnormal musculoskeletal physiology	388015	RTL1	ORPHA:96334
HP:0011843	Abnormal musculoskeletal physiology	388015	RTL1	ORPHA:254528
HP:0011843	Abnormal musculoskeletal physiology	8788	DLK1	ORPHA:96334
HP:0011843	Abnormal musculoskeletal physiology	8788	DLK1	ORPHA:254528
HP:0011843	Abnormal musculoskeletal physiology	55384	MEG3	ORPHA:96334
HP:0011843	Abnormal musculoskeletal physiology	55384	MEG3	ORPHA:254528
HP:0011843	Abnormal musculoskeletal physiology	51085	MLXIPL	OMIM:194050
HP:0011843	Abnormal musculoskeletal physiology	2006	ELN	OMIM:194050
HP:0011843	Abnormal musculoskeletal physiology	487	ATP2A1	OMIM:601003
HP:0011843	Abnormal musculoskeletal physiology	4677	NARS1	OMIM:619091
HP:0011843	Abnormal musculoskeletal physiology	8242	KDM5C	OMIM:300534
HP:0011843	Abnormal musculoskeletal physiology	22906	TRAK1	OMIM:618201
HP:0011843	Abnormal musculoskeletal physiology	55612	FERMT1	ORPHA:2908
HP:0011843	Abnormal musculoskeletal physiology	6843	VAMP1	OMIM:618323
HP:0011843	Abnormal musculoskeletal physiology	81031	SLC2A10	OMIM:208050
HP:0011843	Abnormal musculoskeletal physiology	5692	PSMB4	OMIM:617591
HP:0011843	Abnormal musculoskeletal physiology	5698	PSMB9	OMIM:617591
HP:0011843	Abnormal musculoskeletal physiology	339855	KY	OMIM:617114
HP:0011843	Abnormal musculoskeletal physiology	51227	PIGP	OMIM:617599
HP:0011843	Abnormal musculoskeletal physiology	55275	VPS53	OMIM:615851
HP:0011843	Abnormal musculoskeletal physiology	84665	MYPN	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	390594	KBTBD13	ORPHA:171439
HP:0011843	Abnormal musculoskeletal physiology	55681	SCYL2	ORPHA:1143
HP:0011843	Abnormal musculoskeletal physiology	84570	COL25A1	ORPHA:1143
HP:0011843	Abnormal musculoskeletal physiology	57222	ERGIC1	ORPHA:1143
HP:0011843	Abnormal musculoskeletal physiology	10195	ALG3	OMIM:601110
HP:0011843	Abnormal musculoskeletal physiology	6567	SLC16A2	ORPHA:59
HP:0011843	Abnormal musculoskeletal physiology	6567	SLC16A2	OMIM:300523
HP:0011843	Abnormal musculoskeletal physiology	91252	SLC39A13	ORPHA:157965
HP:0011843	Abnormal musculoskeletal physiology	1387	CREBBP	OMIM:618332
HP:0011843	Abnormal musculoskeletal physiology	1387	CREBBP	OMIM:180849
HP:0011843	Abnormal musculoskeletal physiology	81570	CLPB	OMIM:616271
HP:0011843	Abnormal musculoskeletal physiology	54101	RIPK4	OMIM:263650
HP:0011843	Abnormal musculoskeletal physiology	667	DST	OMIM:614653
HP:0011843	Abnormal musculoskeletal physiology	3329	HSPD1	OMIM:612233
HP:0011843	Abnormal musculoskeletal physiology	1144	CHRND	OMIM:253290
HP:0011843	Abnormal musculoskeletal physiology	1134	CHRNA1	OMIM:253290
HP:0011843	Abnormal musculoskeletal physiology	284119	CAVIN1	OMIM:613327
HP:0011843	Abnormal musculoskeletal physiology	55770	EXOC2	OMIM:619306
HP:0011843	Abnormal musculoskeletal physiology	8905	AP1S2	OMIM:304340
HP:0011843	Abnormal musculoskeletal physiology	4001	LMNB1	ORPHA:99027
HP:0011843	Abnormal musculoskeletal physiology	389827	MYMK	OMIM:254940
HP:0011843	Abnormal musculoskeletal physiology	10075	HUWE1	OMIM:309590
HP:0011843	Abnormal musculoskeletal physiology	9663	LPIN2	OMIM:609628
HP:0011843	Abnormal musculoskeletal physiology	9663	LPIN2	ORPHA:77297
HP:0011843	Abnormal musculoskeletal physiology	84706	GPT2	OMIM:616281
HP:0011843	Abnormal musculoskeletal physiology	10785	WDR4	OMIM:618346
HP:0011843	Abnormal musculoskeletal physiology	579	NKX3-2	OMIM:613330
HP:0011843	Abnormal musculoskeletal physiology	1756	DMD	OMIM:310200
HP:0011843	Abnormal musculoskeletal physiology	1756	DMD	ORPHA:98896
HP:0011843	Abnormal musculoskeletal physiology	9526	MPDU1	OMIM:609180
HP:0011843	Abnormal musculoskeletal physiology	203547	VMA21	OMIM:310440
HP:0011843	Abnormal musculoskeletal physiology	4747	NEFL	OMIM:607684
HP:0011843	Abnormal musculoskeletal physiology	256297	PTF1A	OMIM:609069
HP:0011843	Abnormal musculoskeletal physiology	411	ARSB	OMIM:253200
HP:0011843	Abnormal musculoskeletal physiology	6442	SGCA	OMIM:608099
HP:0011843	Abnormal musculoskeletal physiology	10049	DNAJB6	OMIM:603511
HP:0011843	Abnormal musculoskeletal physiology	79868	ALG13	OMIM:300884
HP:0011843	Abnormal musculoskeletal physiology	8882	ZPR1	OMIM:619321
HP:0011843	Abnormal musculoskeletal physiology	10229	COQ7	OMIM:616733
HP:0011843	Abnormal musculoskeletal physiology	112939	NACC1	ORPHA:500545
HP:0011843	Abnormal musculoskeletal physiology	29078	NDUFAF4	OMIM:618237
HP:0011843	Abnormal musculoskeletal physiology	5831	PYCR1	OMIM:614438
HP:0011843	Abnormal musculoskeletal physiology	5010	CLDN11	OMIM:619328
HP:0011843	Abnormal musculoskeletal physiology	51010	EXOSC3	OMIM:614678
HP:0011843	Abnormal musculoskeletal physiology	23729	SHPK	ORPHA:440713
HP:0011843	Abnormal musculoskeletal physiology	4204	MECP2	OMIM:300055
HP:0011843	Abnormal musculoskeletal physiology	3039	HBA1	ORPHA:98791
HP:0011843	Abnormal musculoskeletal physiology	3040	HBA2	ORPHA:98791
HP:0011843	Abnormal musculoskeletal physiology	10940	POP1	OMIM:617396
HP:0011843	Abnormal musculoskeletal physiology	4998	ORC1	OMIM:224690
HP:0011843	Abnormal musculoskeletal physiology	23345	SYNE1	OMIM:618484
HP:0011843	Abnormal musculoskeletal physiology	11253	MAN1B1	OMIM:614202
HP:0011843	Abnormal musculoskeletal physiology	2072	ERCC4	OMIM:278760
HP:0011843	Abnormal musculoskeletal physiology	6331	SCN5A	ORPHA:1344
HP:0011843	Abnormal musculoskeletal physiology	4878	NPPA	ORPHA:1344
HP:0011843	Abnormal musculoskeletal physiology	54551	MAGEL2	ORPHA:398069
HP:0011843	Abnormal musculoskeletal physiology	54551	MAGEL2	OMIM:615547
HP:0011843	Abnormal musculoskeletal physiology	64856	VWA1	OMIM:619216
HP:0011843	Abnormal musculoskeletal physiology	7965	AIMP2	OMIM:618006
HP:0011843	Abnormal musculoskeletal physiology	91137	SLC25A46	OMIM:616505
HP:0011843	Abnormal musculoskeletal physiology	51008	ASCC1	OMIM:616867
HP:0011843	Abnormal musculoskeletal physiology	57211	ADGRG6	OMIM:616503
HP:0011843	Abnormal musculoskeletal physiology	29920	PYCR2	ORPHA:481152
HP:0011843	Abnormal musculoskeletal physiology	9325	TRIP4	OMIM:616866
HP:0011843	Abnormal musculoskeletal physiology	9361	LONP1	ORPHA:79243
HP:0011843	Abnormal musculoskeletal physiology	5160	PDHA1	ORPHA:79243
HP:0011843	Abnormal musculoskeletal physiology	91647	ATPAF2	OMIM:604273
HP:0011843	Abnormal musculoskeletal physiology	2068	ERCC2	OMIM:601675
HP:0011843	Abnormal musculoskeletal physiology	6390	SDHB	OMIM:619224
HP:0011843	Abnormal musculoskeletal physiology	11342	RNF13	OMIM:618379
HP:0011843	Abnormal musculoskeletal physiology	11342	RNF13	ORPHA:544503
HP:0011843	Abnormal musculoskeletal physiology	7317	UBA1	OMIM:301830
HP:0011843	Abnormal musculoskeletal physiology	8802	SUCLG1	ORPHA:17
HP:0011843	Abnormal musculoskeletal physiology	79796	ALG9	OMIM:263210
HP:0011843	Abnormal musculoskeletal physiology	84896	ATAD1	OMIM:618011
HP:0011843	Abnormal musculoskeletal physiology	128637	TBC1D20	OMIM:615663
HP:0011843	Abnormal musculoskeletal physiology	25939	SAMHD1	OMIM:612952
HP:0011843	Abnormal musculoskeletal physiology	8425	LTBP4	ORPHA:98896
HP:0011843	Abnormal musculoskeletal physiology	7874	USP7	ORPHA:500055
HP:0011843	Abnormal musculoskeletal physiology	5913	RAPSN	OMIM:618388
HP:0011843	Abnormal musculoskeletal physiology	9851	KIAA0753	OMIM:619479
HP:0011843	Abnormal musculoskeletal physiology	35	ACADS	OMIM:201470
HP:0011843	Abnormal musculoskeletal physiology	2033	EP300	OMIM:180849
HP:0011843	Abnormal musculoskeletal physiology	2517	FUCA1	OMIM:230000
HP:0011843	Abnormal musculoskeletal physiology	25782	RAB3GAP2	OMIM:614225
HP:0011843	Abnormal musculoskeletal physiology	1861	TOR1A	OMIM:618947
HP:0011843	Abnormal musculoskeletal physiology	22931	RAB18	OMIM:614222
HP:0011843	Abnormal musculoskeletal physiology	998	CDC42	ORPHA:487796
HP:0011843	Abnormal musculoskeletal physiology	4534	MTM1	OMIM:310400
HP:0011843	Abnormal musculoskeletal physiology	54880	BCOR	OMIM:300166
HP:0011843	Abnormal musculoskeletal physiology	2571	GAD1	OMIM:619124
HP:0011843	Abnormal musculoskeletal physiology	162514	TRPV3	OMIM:614594
HP:0011843	Abnormal musculoskeletal physiology	202018	TAPT1	OMIM:616897
HP:0011843	Abnormal musculoskeletal physiology	2273	FHL1	OMIM:300718
HP:0011843	Abnormal musculoskeletal physiology	2273	FHL1	OMIM:300717
HP:0011843	Abnormal musculoskeletal physiology	342035	GLDN	OMIM:617194
HP:0011843	Abnormal musculoskeletal physiology	2176	FANCC	OMIM:227645
HP:0011843	Abnormal musculoskeletal physiology	9215	LARGE1	OMIM:613154
HP:0011843	Abnormal musculoskeletal physiology	5538	PPT1	OMIM:256730
HP:0011843	Abnormal musculoskeletal physiology	29954	POMT2	OMIM:613156
HP:0011843	Abnormal musculoskeletal physiology	8243	SMC1A	ORPHA:220386
HP:0011843	Abnormal musculoskeletal physiology	8815	BANF1	OMIM:614008
HP:0011843	Abnormal musculoskeletal physiology	84700	MYO18B	OMIM:616549
HP:0011843	Abnormal musculoskeletal physiology	6261	RYR1	ORPHA:98905
HP:0011843	Abnormal musculoskeletal physiology	84081	NSRP1	OMIM:620001
HP:0011843	Abnormal musculoskeletal physiology	6389	SDHA	OMIM:252011
HP:0011843	Abnormal musculoskeletal physiology	2801	GOLGA2	OMIM:620240
HP:0011843	Abnormal musculoskeletal physiology	224	ALDH3A2	OMIM:270200
HP:0011843	Abnormal musculoskeletal physiology	129285	PPP1R21	OMIM:619383
HP:0011843	Abnormal musculoskeletal physiology	84842	HPDL	OMIM:619026
HP:0011843	Abnormal musculoskeletal physiology	22978	NT5C2	OMIM:613162
HP:0011843	Abnormal musculoskeletal physiology	221692	PHACTR1	OMIM:618298
HP:0011843	Abnormal musculoskeletal physiology	1140	CHRNB1	OMIM:616313
HP:0011843	Abnormal musculoskeletal physiology	1235	CCR6	ORPHA:220393
HP:0011843	Abnormal musculoskeletal physiology	1490	CCN2	ORPHA:220393
HP:0011843	Abnormal musculoskeletal physiology	3663	IRF5	ORPHA:220393
HP:0011843	Abnormal musculoskeletal physiology	857	CAV1	ORPHA:220393
HP:0011843	Abnormal musculoskeletal physiology	3123	HLA-DRB1	ORPHA:220393
HP:0011843	Abnormal musculoskeletal physiology	5696	PSMB8	OMIM:256040
HP:0011843	Abnormal musculoskeletal physiology	246329	STAC3	OMIM:255995
HP:0011843	Abnormal musculoskeletal physiology	9990	SLC12A6	OMIM:218000
HP:0011843	Abnormal musculoskeletal physiology	6786	STIM1	OMIM:160565
HP:0011843	Abnormal musculoskeletal physiology	203859	ANO5	ORPHA:206549
HP:0011843	Abnormal musculoskeletal physiology	2074	ERCC6	OMIM:133540
HP:0011843	Abnormal musculoskeletal physiology	27238	GPKOW	ORPHA:2570
HP:0011843	Abnormal musculoskeletal physiology	30061	SLC40A1	ORPHA:139491
HP:0011843	Abnormal musculoskeletal physiology	23592	LEMD3	ORPHA:166119
HP:0011843	Abnormal musculoskeletal physiology	2335	FN1	ORPHA:93315
HP:0011843	Abnormal musculoskeletal physiology	2733	GLE1	ORPHA:1486
HP:0011843	Abnormal musculoskeletal physiology	5354	PLP1	ORPHA:99015
HP:0011843	Abnormal musculoskeletal physiology	242	ALOX12B	ORPHA:281122
HP:0011843	Abnormal musculoskeletal physiology	59344	ALOXE3	ORPHA:281122
HP:0011843	Abnormal musculoskeletal physiology	7051	TGM1	ORPHA:281122
HP:0011843	Abnormal musculoskeletal physiology	112	ADCY6	ORPHA:2680
HP:0011843	Abnormal musculoskeletal physiology	163175	LGI4	ORPHA:2680
HP:0011843	Abnormal musculoskeletal physiology	150468	CKAP2L	ORPHA:3255
HP:0011843	Abnormal musculoskeletal physiology	1161	ERCC8	OMIM:216400
HP:0011843	Abnormal musculoskeletal physiology	79158	GNPTAB	OMIM:252500
HP:0011843	Abnormal musculoskeletal physiology	79158	GNPTAB	ORPHA:576
HP:0011843	Abnormal musculoskeletal physiology	10651	MTX2	ORPHA:90153
HP:0011843	Abnormal musculoskeletal physiology	4626	MYH8	ORPHA:3377
HP:0011843	Abnormal musculoskeletal physiology	8925	HERC1	ORPHA:457359
HP:0011843	Abnormal musculoskeletal physiology	3423	IDS	ORPHA:217085
HP:0011843	Abnormal musculoskeletal physiology	3423	IDS	ORPHA:217093
HP:0011843	Abnormal musculoskeletal physiology	9326	ZNHIT3	ORPHA:2836
HP:0011843	Abnormal musculoskeletal physiology	547	KIF1A	ORPHA:2836
HP:0011843	Abnormal musculoskeletal physiology	3248	HPGD	ORPHA:2796
HP:0011843	Abnormal musculoskeletal physiology	3248	HPGD	OMIM:259100
HP:0011843	Abnormal musculoskeletal physiology	6578	SLCO2A1	ORPHA:2796
HP:0011843	Abnormal musculoskeletal physiology	3339	HSPG2	ORPHA:1865
HP:0011843	Abnormal musculoskeletal physiology	2632	GBE1	ORPHA:206583
HP:0011843	Abnormal musculoskeletal physiology	171023	ASXL1	ORPHA:97297
HP:0011843	Abnormal musculoskeletal physiology	9496	TBX4	ORPHA:261279
HP:0011843	Abnormal musculoskeletal physiology	64327	LMBR1	ORPHA:93405
HP:0011843	Abnormal musculoskeletal physiology	64327	LMBR1	ORPHA:2378
HP:0011843	Abnormal musculoskeletal physiology	6469	SHH	ORPHA:93405
HP:0011843	Abnormal musculoskeletal physiology	1499	CTNNB1	ORPHA:873
HP:0011843	Abnormal musculoskeletal physiology	324	APC	ORPHA:873
HP:0011843	Abnormal musculoskeletal physiology	5251	PHEX	ORPHA:89936
HP:0011843	Abnormal musculoskeletal physiology	8239	USP9X	ORPHA:480880
HP:0011843	Abnormal musculoskeletal physiology	3425	IDUA	ORPHA:93474
HP:0011843	Abnormal musculoskeletal physiology	3425	IDUA	ORPHA:93473
HP:0011843	Abnormal musculoskeletal physiology	3425	IDUA	ORPHA:93476
HP:0011843	Abnormal musculoskeletal physiology	6329	SCN4A	ORPHA:99735
HP:0011843	Abnormal musculoskeletal physiology	7305	TYROBP	ORPHA:2770
HP:0011843	Abnormal musculoskeletal physiology	54209	TREM2	ORPHA:2770
HP:0011843	Abnormal musculoskeletal physiology	7040	TGFB1	ORPHA:1328
HP:0011843	Abnormal musculoskeletal physiology	4598	MVK	ORPHA:343
HP:0011843	Abnormal musculoskeletal physiology	56052	ALG1	ORPHA:79327
HP:0011843	Abnormal musculoskeletal physiology	4094	MAF	ORPHA:1272
HP:0011843	Abnormal musculoskeletal physiology	4089	SMAD4	OMIM:139210
HP:0011843	Abnormal musculoskeletal physiology	8838	CCN6	ORPHA:1159
HP:0011843	Abnormal musculoskeletal physiology	6598	SMARCB1	ORPHA:99966
HP:0011843	Abnormal musculoskeletal physiology	2778	GNAS	ORPHA:2762
HP:0011843	Abnormal musculoskeletal physiology	26154	ABCA12	ORPHA:457
HP:0011843	Abnormal musculoskeletal physiology	90	ACVR1	ORPHA:337
HP:0011843	Abnormal musculoskeletal physiology	4854	NOTCH3	ORPHA:2591
HP:0011843	Abnormal musculoskeletal physiology	5159	PDGFRB	ORPHA:2591
HP:0011843	Abnormal musculoskeletal physiology	3977	LIFR	ORPHA:3206
HP:0011843	Abnormal musculoskeletal physiology	2990	GUSB	OMIM:253220
HP:0011843	Abnormal musculoskeletal physiology	4053	LTBP2	ORPHA:3449
HP:0011843	Abnormal musculoskeletal physiology	81794	ADAMTS10	ORPHA:3449
HP:0011843	Abnormal musculoskeletal physiology	727857	BHLHA9	ORPHA:3329
HP:0011843	Abnormal musculoskeletal physiology	658	BMPR1B	ORPHA:2639
HP:0011843	Abnormal musculoskeletal physiology	875	CBS	OMIM:236200
HP:0011843	Abnormal musculoskeletal physiology	1146	CHRNG	ORPHA:2990
HP:0011843	Abnormal musculoskeletal physiology	10225	CD96	ORPHA:1308
HP:0011843	Abnormal musculoskeletal physiology	64127	NOD2	ORPHA:90340
HP:0011843	Abnormal musculoskeletal physiology	1302	COL11A2	ORPHA:1427
HP:0011843	Abnormal musculoskeletal physiology	9051	PSTPIP1	ORPHA:69126
HP:0011843	Abnormal musculoskeletal physiology	4982	TNFRSF11B	ORPHA:1416
HP:0011843	Abnormal musculoskeletal physiology	56172	ANKH	ORPHA:1416
HP:0011843	Abnormal musculoskeletal physiology	4322	MMP13	OMIM:602111
HP:0011843	Abnormal musculoskeletal physiology	4882	NPR2	OMIM:602875
HP:0011843	Abnormal musculoskeletal physiology	10262	SF3B4	OMIM:154400
HP:0011843	Abnormal musculoskeletal physiology	6424	SFRP4	OMIM:265900
HP:0011843	Abnormal musculoskeletal physiology	85301	COL27A1	OMIM:615155
HP:0011843	Abnormal musculoskeletal physiology	80207	OPA3	ORPHA:67036
HP:0011843	Abnormal musculoskeletal physiology	23233	EXOC6B	ORPHA:93359
HP:0011843	Abnormal musculoskeletal physiology	126792	B3GALT6	ORPHA:93359
HP:0011843	Abnormal musculoskeletal physiology	4010	LMX1B	ORPHA:2614
HP:0011843	Abnormal musculoskeletal physiology	4010	LMX1B	OMIM:161200
HP:0011843	Abnormal musculoskeletal physiology	6023	RMRP	OMIM:250250
HP:0011843	Abnormal musculoskeletal physiology	6023	RMRP	ORPHA:175
HP:0011843	Abnormal musculoskeletal physiology	6023	RMRP	OMIM:607095
HP:0011843	Abnormal musculoskeletal physiology	10274	STAG1	ORPHA:502434
HP:0011843	Abnormal musculoskeletal physiology	538	ATP7A	OMIM:304150
HP:0011843	Abnormal musculoskeletal physiology	4796	TONSL	ORPHA:93357
HP:0011843	Abnormal musculoskeletal physiology	4796	TONSL	OMIM:271510
HP:0011843	Abnormal musculoskeletal physiology	10060	ABCC9	OMIM:619719
HP:0011843	Abnormal musculoskeletal physiology	55869	HDAC8	OMIM:300882
HP:0011843	Abnormal musculoskeletal physiology	100151683	RNU4ATAC	OMIM:226960
HP:0011843	Abnormal musculoskeletal physiology	5594	MAPK1	OMIM:619087
HP:0011843	Abnormal musculoskeletal physiology	54928	BPNT2	OMIM:614078
HP:0011843	Abnormal musculoskeletal physiology	83737	ITCH	OMIM:613385
HP:0011843	Abnormal musculoskeletal physiology	55790	CSGALNACT1	OMIM:618870
HP:0011843	Abnormal musculoskeletal physiology	1299	COL9A3	OMIM:600969
HP:0011843	Abnormal musculoskeletal physiology	2782	GNB1	OMIM:616973
HP:0011843	Abnormal musculoskeletal physiology	2263	FGFR2	OMIM:123790
HP:0011843	Abnormal musculoskeletal physiology	23529	CLCF1	OMIM:610313
HP:0011843	Abnormal musculoskeletal physiology	7030	TFE3	OMIM:301066
HP:0011843	Abnormal musculoskeletal physiology	2261	FGFR3	OMIM:146000
HP:0011843	Abnormal musculoskeletal physiology	2261	FGFR3	OMIM:100800
HP:0011843	Abnormal musculoskeletal physiology	2261	FGFR3	ORPHA:15
HP:0011843	Abnormal musculoskeletal physiology	25836	NIPBL	OMIM:122470
HP:0011843	Abnormal musculoskeletal physiology	2146	EZH2	OMIM:277590
HP:0011843	Abnormal musculoskeletal physiology	2317	FLNB	OMIM:272460
HP:0011843	Abnormal musculoskeletal physiology	6910	TBX5	OMIM:142900
HP:0011843	Abnormal musculoskeletal physiology	633	BGN	OMIM:300106
HP:0011843	Abnormal musculoskeletal physiology	83452	RAB33B	OMIM:615222
HP:0011843	Abnormal musculoskeletal physiology	6999	TDO2	OMIM:600627
HP:0011843	Abnormal musculoskeletal physiology	55012	PPP2R3C	OMIM:618419
HP:0011843	Abnormal musculoskeletal physiology	200734	SPRED2	OMIM:619745
HP:0011843	Abnormal musculoskeletal physiology	3930	LBR	OMIM:618019
HP:0011843	Abnormal musculoskeletal physiology	5116	PCNT	OMIM:210720
HP:0011843	Abnormal musculoskeletal physiology	9244	CRLF1	OMIM:272430
HP:0011843	Abnormal musculoskeletal physiology	54808	DYM	ORPHA:239
HP:0011843	Abnormal musculoskeletal physiology	6535	SLC6A8	OMIM:300352
HP:0011843	Abnormal musculoskeletal physiology	8367	H4C5	OMIM:619950
HP:0011843	Abnormal musculoskeletal physiology	8294	H4C9	OMIM:619951
HP:0011843	Abnormal musculoskeletal physiology	10046	MAMLD1	ORPHA:456328
HP:0011843	Abnormal musculoskeletal physiology	23135	KDM6B	OMIM:618505
HP:0011843	Abnormal musculoskeletal physiology	7148	TNXB	ORPHA:230839
HP:0011843	Abnormal musculoskeletal physiology	7148	TNXB	OMIM:615963
HP:0011843	Abnormal musculoskeletal physiology	7148	TNXB	OMIM:606408
HP:0011843	Abnormal musculoskeletal physiology	6938	TCF12	OMIM:619718
HP:0011843	Abnormal musculoskeletal physiology	1788	DNMT3A	ORPHA:404443
HP:0011843	Abnormal musculoskeletal physiology	9578	CDC42BPB	OMIM:619841
HP:0011843	Abnormal musculoskeletal physiology	64412	GZF1	OMIM:617662
HP:0011843	Abnormal musculoskeletal physiology	283489	CHAMP1	OMIM:616579
HP:0011843	Abnormal musculoskeletal physiology	7125	TNNC2	OMIM:620161
HP:0011843	Abnormal musculoskeletal physiology	9739	SETD1A	OMIM:619056
HP:0011843	Abnormal musculoskeletal physiology	815	CAMK2A	OMIM:617798
HP:0011843	Abnormal musculoskeletal physiology	90993	CREB3L1	OMIM:616229
HP:0011843	Abnormal musculoskeletal physiology	5238	PGM3	OMIM:615816
HP:0011843	Abnormal musculoskeletal physiology	157680	VPS13B	OMIM:216550
HP:0011843	Abnormal musculoskeletal physiology	23116	TOGARAM1	OMIM:619185
HP:0011843	Abnormal musculoskeletal physiology	6872	TAF1	ORPHA:480907
HP:0011843	Abnormal musculoskeletal physiology	6872	TAF1	OMIM:300966
HP:0011843	Abnormal musculoskeletal physiology	84823	LMNB2	OMIM:619180
HP:0011843	Abnormal musculoskeletal physiology	4763	NF1	ORPHA:363700
HP:0011843	Abnormal musculoskeletal physiology	11107	PRDM5	OMIM:614170
HP:0011843	Abnormal musculoskeletal physiology	57178	ZMIZ1	OMIM:618659
HP:0011843	Abnormal musculoskeletal physiology	23545	ATP6V0A2	OMIM:278250
HP:0011843	Abnormal musculoskeletal physiology	23545	ATP6V0A2	OMIM:219200
HP:0011843	Abnormal musculoskeletal physiology	649	BMP1	OMIM:614856
HP:0011843	Abnormal musculoskeletal physiology	26057	ANKRD17	OMIM:619504
HP:0011843	Abnormal musculoskeletal physiology	526	ATP6V1B2	ORPHA:3473
HP:0011843	Abnormal musculoskeletal physiology	165	AEBP1	ORPHA:536532
HP:0011843	Abnormal musculoskeletal physiology	165	AEBP1	OMIM:618000
HP:0011843	Abnormal musculoskeletal physiology	375	ARF1	ORPHA:98892
HP:0011843	Abnormal musculoskeletal physiology	4131	MAP1B	ORPHA:98892
HP:0011843	Abnormal musculoskeletal physiology	23327	NEDD4L	ORPHA:98892
HP:0011843	Abnormal musculoskeletal physiology	160418	TMTC3	ORPHA:98892
HP:0011843	Abnormal musculoskeletal physiology	10564	ARFGEF2	ORPHA:98892
HP:0011843	Abnormal musculoskeletal physiology	5518	PPP2R1A	OMIM:616362
HP:0011843	Abnormal musculoskeletal physiology	5518	PPP2R1A	ORPHA:457284
HP:0011843	Abnormal musculoskeletal physiology	3572	IL6ST	OMIM:619752
HP:0011843	Abnormal musculoskeletal physiology	7862	BRPF1	OMIM:617333
HP:0011843	Abnormal musculoskeletal physiology	22859	ADGRL1	OMIM:620065
HP:0011843	Abnormal musculoskeletal physiology	283209	PGM2L1	OMIM:620191
HP:0011843	Abnormal musculoskeletal physiology	78989	COLEC11	OMIM:265050
HP:0011843	Abnormal musculoskeletal physiology	9321	TRIP11	OMIM:184260
HP:0011843	Abnormal musculoskeletal physiology	7750	ZMYM2	OMIM:619522
HP:0011843	Abnormal musculoskeletal physiology	53335	BCL11A	OMIM:617101
HP:0011843	Abnormal musculoskeletal physiology	200424	TET3	OMIM:618798
HP:0011843	Abnormal musculoskeletal physiology	540	ATP7B	OMIM:277900
HP:0011843	Abnormal musculoskeletal physiology	23314	SATB2	ORPHA:576283
HP:0011843	Abnormal musculoskeletal physiology	11117	EMILIN1	OMIM:620080
HP:0011843	Abnormal musculoskeletal physiology	79989	IFT56	OMIM:619534
HP:0011843	Abnormal musculoskeletal physiology	8565	YARS1	OMIM:619418
HP:0011843	Abnormal musculoskeletal physiology	84168	ANTXR1	OMIM:230740
HP:0011843	Abnormal musculoskeletal physiology	8621	CDK13	OMIM:617360
HP:0011843	Abnormal musculoskeletal physiology	22907	DHX30	OMIM:617804
HP:0011843	Abnormal musculoskeletal physiology	9949	AMMECR1	OMIM:300990
HP:0011843	Abnormal musculoskeletal physiology	56896	DPYSL5	OMIM:619435
HP:0011843	Abnormal musculoskeletal physiology	64116	SLC39A8	OMIM:616721
HP:0011843	Abnormal musculoskeletal physiology	79912	PYROXD1	OMIM:617258
HP:0011843	Abnormal musculoskeletal physiology	6418	SET	OMIM:618106
HP:0011843	Abnormal musculoskeletal physiology	85358	SHANK3	OMIM:606232
HP:0011843	Abnormal musculoskeletal physiology	23028	KDM1A	OMIM:616728
HP:0011843	Abnormal musculoskeletal physiology	26115	TANC2	OMIM:618906
HP:0011843	Abnormal musculoskeletal physiology	128869	PIGU	OMIM:618590
HP:0011843	Abnormal musculoskeletal physiology	1301	COL11A1	OMIM:604841
HP:0011843	Abnormal musculoskeletal physiology	57551	TAOK1	OMIM:619575
HP:0011843	Abnormal musculoskeletal physiology	537	ATP6AP1	OMIM:300972
HP:0011843	Abnormal musculoskeletal physiology	1621	DBH	OMIM:223360
HP:0011843	Abnormal musculoskeletal physiology	55033	FKBP14	ORPHA:300179
HP:0011843	Abnormal musculoskeletal physiology	84068	SLC10A7	OMIM:618363
HP:0011843	Abnormal musculoskeletal physiology	83987	CCDC8	OMIM:614205
HP:0011843	Abnormal musculoskeletal physiology	9820	CUL7	OMIM:273750
HP:0011843	Abnormal musculoskeletal physiology	7703	PCGF2	OMIM:618371
HP:0011843	Abnormal musculoskeletal physiology	1822	ATN1	OMIM:618494
HP:0011843	Abnormal musculoskeletal physiology	25	ABL1	OMIM:617602
HP:0011843	Abnormal musculoskeletal physiology	5000	ORC4	OMIM:613800
HP:0011843	Abnormal musculoskeletal physiology	6304	SATB1	OMIM:619229
HP:0011843	Abnormal musculoskeletal physiology	716	C1S	OMIM:617174
HP:0011843	Abnormal musculoskeletal physiology	134218	DNAJC21	OMIM:617052
HP:0011843	Abnormal musculoskeletal physiology	51604	PIGT	ORPHA:369837
HP:0011843	Abnormal musculoskeletal physiology	80781	COL18A1	OMIM:267750
HP:0011843	Abnormal musculoskeletal physiology	51360	MBTPS2	OMIM:301014
HP:0011843	Abnormal musculoskeletal physiology	1457	CSNK2A1	OMIM:617062
HP:0011843	Abnormal musculoskeletal physiology	23112	TNRC6B	OMIM:619243
HP:0011843	Abnormal musculoskeletal physiology	10220	GDF11	OMIM:619122
HP:0011843	Abnormal musculoskeletal physiology	5500	PPP1CB	OMIM:617506
HP:0011843	Abnormal musculoskeletal physiology	84905	ZNF341	OMIM:618282
HP:0011843	Abnormal musculoskeletal physiology	1290	COL5A2	OMIM:130010
HP:0011843	Abnormal musculoskeletal physiology	11014	KDELR2	OMIM:619131
HP:0011843	Abnormal musculoskeletal physiology	55023	PHIP	OMIM:617991
HP:0011843	Abnormal musculoskeletal physiology	2193	FARSA	OMIM:619013
HP:0011843	Abnormal musculoskeletal physiology	1984	EIF5A	OMIM:619376
HP:0011843	Abnormal musculoskeletal physiology	51780	KDM3B	OMIM:618846
HP:0011843	Abnormal musculoskeletal physiology	10020	GNE	ORPHA:3166
HP:0011843	Abnormal musculoskeletal physiology	8139	GAN	ORPHA:643
HP:0011843	Abnormal musculoskeletal physiology	11011	TLK2	OMIM:618050
HP:0011843	Abnormal musculoskeletal physiology	26229	B3GAT3	OMIM:245600
HP:0011843	Abnormal musculoskeletal physiology	11141	IL1RAPL1	OMIM:300143
HP:0011843	Abnormal musculoskeletal physiology	23309	SIN3B	ORPHA:500166
HP:0011843	Abnormal musculoskeletal physiology	1806	DPYD	ORPHA:293948
HP:0011843	Abnormal musculoskeletal physiology	341208	HEPHL1	OMIM:261990
HP:0011843	Abnormal musculoskeletal physiology	7471	WNT1	OMIM:615220
HP:0011843	Abnormal musculoskeletal physiology	57728	WDR19	OMIM:614378
HP:0011843	Abnormal musculoskeletal physiology	25871	NEPRO	OMIM:618853
HP:0011843	Abnormal musculoskeletal physiology	8085	KMT2D	OMIM:147920
HP:0011843	Abnormal musculoskeletal physiology	3106	HLA-B	ORPHA:397
HP:0011843	Abnormal musculoskeletal physiology	3106	HLA-B	ORPHA:29207
HP:0011843	Abnormal musculoskeletal physiology	8974	P4HA2	ORPHA:397
HP:0011843	Abnormal musculoskeletal physiology	259232	NALCN	ORPHA:2053
HP:0011843	Abnormal musculoskeletal physiology	259232	NALCN	ORPHA:1147
HP:0011843	Abnormal musculoskeletal physiology	259232	NALCN	ORPHA:1146
HP:0011843	Abnormal musculoskeletal physiology	54507	ADAMTSL4	ORPHA:1885
HP:0011843	Abnormal musculoskeletal physiology	72	ACTG2	ORPHA:2604
HP:0011843	Abnormal musculoskeletal physiology	2314	FLII	ORPHA:819
HP:0011843	Abnormal musculoskeletal physiology	23096	IQSEC2	ORPHA:819
HP:0011843	Abnormal musculoskeletal physiology	84572	GNPTG	OMIM:252605
HP:0011843	Abnormal musculoskeletal physiology	3418	IDH2	ORPHA:296
HP:0011843	Abnormal musculoskeletal physiology	3417	IDH1	ORPHA:296
HP:0011843	Abnormal musculoskeletal physiology	170691	ADAMTS17	OMIM:613195
HP:0011843	Abnormal musculoskeletal physiology	5119	CHMP1A	OMIM:614961
HP:0011843	Abnormal musculoskeletal physiology	340061	STING1	OMIM:615934
HP:0011843	Abnormal musculoskeletal physiology	4054	LTBP3	ORPHA:969
HP:0011843	Abnormal musculoskeletal physiology	222663	SCUBE3	OMIM:619184
HP:0011843	Abnormal musculoskeletal physiology	2254	FGF9	ORPHA:3237
HP:0011843	Abnormal musculoskeletal physiology	112476	PRRT2	ORPHA:98810
HP:0011843	Abnormal musculoskeletal physiology	25953	PNKD	ORPHA:98810
HP:0011843	Abnormal musculoskeletal physiology	4318	MMP9	ORPHA:1040
HP:0011843	Abnormal musculoskeletal physiology	5590	PRKCZ	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	2563	GABRD	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	23013	SPEN	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	8510	MMP23B	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	7798	LUZP1	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	10630	PDPN	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	10277	UBE4B	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	8514	KCNAB2	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	473	RERE	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	63976	PRDM16	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	54897	CASZ1	ORPHA:1606
HP:0011843	Abnormal musculoskeletal physiology	493856	CISD2	ORPHA:3463
HP:0011843	Abnormal musculoskeletal physiology	7466	WFS1	ORPHA:3463
HP:0011843	Abnormal musculoskeletal physiology	7486	WRN	ORPHA:902
HP:0011843	Abnormal musculoskeletal physiology	285362	SUMF1	ORPHA:585
HP:0011843	Abnormal musculoskeletal physiology	10436	EMG1	ORPHA:1270
HP:0011843	Abnormal musculoskeletal physiology	9555	MACROH2A1	ORPHA:1275
HP:0011843	Abnormal musculoskeletal physiology	5307	PITX1	ORPHA:1275
HP:0011843	Abnormal musculoskeletal physiology	7140	TNNT3	ORPHA:1147
HP:0011843	Abnormal musculoskeletal physiology	7140	TNNT3	ORPHA:1146
HP:0011843	Abnormal musculoskeletal physiology	7136	TNNI2	ORPHA:1147
HP:0011843	Abnormal musculoskeletal physiology	7136	TNNI2	ORPHA:1146
HP:0011843	Abnormal musculoskeletal physiology	654	BMP6	ORPHA:465508
HP:0011843	Abnormal musculoskeletal physiology	3077	HFE	ORPHA:465508
HP:0011843	Abnormal musculoskeletal physiology	6583	SLC22A4	OMIM:180300
HP:0011843	Abnormal musculoskeletal physiology	4261	CIITA	OMIM:180300
HP:0011843	Abnormal musculoskeletal physiology	51744	CD244	OMIM:180300
HP:0011843	Abnormal musculoskeletal physiology	4795	NFKBIL1	OMIM:180300
HP:0011843	Abnormal musculoskeletal physiology	3586	IL10	OMIM:180300
HP:0011843	Abnormal musculoskeletal physiology	2010	EMD	ORPHA:98863
HP:0011843	Abnormal musculoskeletal physiology	23512	SUZ12	ORPHA:3447
HP:0011843	Abnormal musculoskeletal physiology	6473	SHOX	ORPHA:240
HP:0011843	Abnormal musculoskeletal physiology	57724	EPG5	ORPHA:1493
HP:0011843	Abnormal musculoskeletal physiology	79188	TMEM43	ORPHA:98853
HP:0011843	Abnormal musculoskeletal physiology	23224	SYNE2	ORPHA:98853
HP:0011843	Abnormal musculoskeletal physiology	6448	SGSH	OMIM:252900
HP:0011843	Abnormal musculoskeletal physiology	443	ASPA	ORPHA:314911
HP:0011843	Abnormal musculoskeletal physiology	4952	OCRL	ORPHA:534
HP:0011843	Abnormal musculoskeletal physiology	5077	PAX3	ORPHA:896
HP:0011843	Abnormal musculoskeletal physiology	2073	ERCC5	ORPHA:1466
HP:0011843	Abnormal musculoskeletal physiology	2743	GLRB	ORPHA:3197
HP:0011843	Abnormal musculoskeletal physiology	2741	GLRA1	ORPHA:3197
HP:0011843	Abnormal musculoskeletal physiology	10243	GPHN	ORPHA:3197
HP:0011843	Abnormal musculoskeletal physiology	9152	SLC6A5	ORPHA:3197
HP:0011843	Abnormal musculoskeletal physiology	8883	NAE1	OMIM:620210
HP:0011843	Abnormal musculoskeletal physiology	23476	BRD4	ORPHA:199
HP:0011843	Abnormal musculoskeletal physiology	9126	SMC3	ORPHA:199
HP:0011843	Abnormal musculoskeletal physiology	5885	RAD21	ORPHA:199
HP:0011843	Abnormal musculoskeletal physiology	4659	PPP1R12A	OMIM:618820
HP:0011843	Abnormal musculoskeletal physiology	285590	SH3PXD2B	ORPHA:137834
HP:0011843	Abnormal musculoskeletal physiology	207	AKT1	ORPHA:744
HP:0011843	Abnormal musculoskeletal physiology	54676	GTPBP2	OMIM:617988
HP:0011843	Abnormal musculoskeletal physiology	2799	GNS	OMIM:252940
HP:0011843	Abnormal musculoskeletal physiology	50515	CHST11	OMIM:618167
HP:0011843	Abnormal musculoskeletal physiology	3889	KRT83	OMIM:617756
HP:0011843	Abnormal musculoskeletal physiology	3664	IRF6	ORPHA:1300
HP:0011843	Abnormal musculoskeletal physiology	138050	HGSNAT	OMIM:252930
HP:0011843	Abnormal musculoskeletal physiology	22930	RAB3GAP1	ORPHA:2510
HP:0011843	Abnormal musculoskeletal physiology	71	ACTG1	ORPHA:2995
HP:0011843	Abnormal musculoskeletal physiology	60	ACTB	ORPHA:2995
HP:0011843	Abnormal musculoskeletal physiology	3897	L1CAM	ORPHA:2182
HP:0011843	Abnormal musculoskeletal physiology	3636	INPPL1	ORPHA:2746
HP:0011843	Abnormal musculoskeletal physiology	5130	PCYT1A	OMIM:608940
HP:0011843	Abnormal musculoskeletal physiology	54829	ASPN	OMIM:607850
HP:0011843	Abnormal musculoskeletal physiology	4669	NAGLU	OMIM:252920
HP:0011843	Abnormal musculoskeletal physiology	8450	CUL4B	OMIM:300354
HP:0011843	Abnormal musculoskeletal physiology	8036	SHOC2	OMIM:607721
HP:0011843	Abnormal musculoskeletal physiology	3376	IARS1	OMIM:617093
HP:0011843	Abnormal musculoskeletal physiology	3376	IARS1	ORPHA:541423
HP:0011843	Abnormal musculoskeletal physiology	23394	ADNP	ORPHA:404448
HP:0011843	Abnormal musculoskeletal physiology	23394	ADNP	OMIM:615873
HP:0011843	Abnormal musculoskeletal physiology	5728	PTEN	OMIM:605309
HP:0011843	Abnormal musculoskeletal physiology	9853	RUSC2	OMIM:617773
HP:0011843	Abnormal musculoskeletal physiology	57539	WDR35	OMIM:613610
HP:0011843	Abnormal musculoskeletal physiology	347734	SLC35B2	OMIM:620269
HP:0011843	Abnormal musculoskeletal physiology	23126	POGZ	ORPHA:468678
HP:0011843	Abnormal musculoskeletal physiology	23126	POGZ	OMIM:616364
HP:0011843	Abnormal musculoskeletal physiology	3190	HNRNPK	ORPHA:453504
HP:0011843	Abnormal musculoskeletal physiology	3190	HNRNPK	ORPHA:352665
HP:0011843	Abnormal musculoskeletal physiology	4125	MAN2B1	ORPHA:309282
HP:0011843	Abnormal musculoskeletal physiology	10743	RAI1	ORPHA:477817
HP:0011843	Abnormal musculoskeletal physiology	197131	UBR1	OMIM:243800
HP:0011843	Abnormal musculoskeletal physiology	3021	H3-3B	OMIM:619721
HP:0011843	Abnormal musculoskeletal physiology	5176	SERPINF1	OMIM:613982
HP:0011843	Abnormal musculoskeletal physiology	27245	AHDC1	ORPHA:412069
HP:0011843	Abnormal musculoskeletal physiology	7532	YWHAG	OMIM:617665
HP:0011843	Abnormal musculoskeletal physiology	6662	SOX9	OMIM:114290
HP:0011843	Abnormal musculoskeletal physiology	28960	DCPS	OMIM:616459
HP:0011843	Abnormal musculoskeletal physiology	55780	ERMARD	ORPHA:75857
HP:0011843	Abnormal musculoskeletal physiology	64175	P3H1	OMIM:610915
HP:0011843	Abnormal musculoskeletal physiology	57492	ARID1B	OMIM:135900
HP:0011843	Abnormal musculoskeletal physiology	57492	ARID1B	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	284058	KANSL1	ORPHA:363958
HP:0011843	Abnormal musculoskeletal physiology	284058	KANSL1	ORPHA:363965
HP:0011843	Abnormal musculoskeletal physiology	54453	RIN2	OMIM:613075
HP:0011843	Abnormal musculoskeletal physiology	4853	NOTCH2	OMIM:102500
HP:0011843	Abnormal musculoskeletal physiology	10381	TUBB3	ORPHA:300570
HP:0011843	Abnormal musculoskeletal physiology	5015	OTX2	OMIM:610125
HP:0011843	Abnormal musculoskeletal physiology	55858	TMEM165	OMIM:614727
HP:0011843	Abnormal musculoskeletal physiology	10716	TBR1	OMIM:606053
HP:0011843	Abnormal musculoskeletal physiology	10484	SEC23A	OMIM:607812
HP:0011843	Abnormal musculoskeletal physiology	6885	MAP3K7	OMIM:157800
HP:0011843	Abnormal musculoskeletal physiology	2720	GLB1	OMIM:253010
HP:0011843	Abnormal musculoskeletal physiology	9731	CEP104	OMIM:619988
HP:0011843	Abnormal musculoskeletal physiology	25942	SIN3A	OMIM:613406
HP:0011843	Abnormal musculoskeletal physiology	25942	SIN3A	ORPHA:94065
HP:0011843	Abnormal musculoskeletal physiology	8642	DCHS1	OMIM:601390
HP:0011843	Abnormal musculoskeletal physiology	10522	DEAF1	OMIM:615828
HP:0011843	Abnormal musculoskeletal physiology	1947	EFNB1	OMIM:304110
HP:0011843	Abnormal musculoskeletal physiology	54914	FOCAD	OMIM:619991
HP:0011843	Abnormal musculoskeletal physiology	2332	FMR1	ORPHA:908
HP:0011843	Abnormal musculoskeletal physiology	2332	FMR1	ORPHA:449291
HP:0011843	Abnormal musculoskeletal physiology	2332	FMR1	OMIM:300624
HP:0011843	Abnormal musculoskeletal physiology	5828	PEX2	OMIM:614867
HP:0011843	Abnormal musculoskeletal physiology	6804	STX1A	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	7461	CLIP2	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	84277	DNAJC30	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	8468	FKBP6	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	5982	RFC2	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	2969	GTF2I	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	3984	LIMK1	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	9569	GTF2IRD1	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	155382	VPS37D	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	155368	METTL27	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	114049	BUD23	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	7458	EIF4H	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	84163	GTF2IRD2	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	9275	BCL7B	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	26608	TBL2	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	653361	NCF1	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	135886	TMEM270	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	9031	BAZ1B	ORPHA:904
HP:0011843	Abnormal musculoskeletal physiology	10056	FARSB	OMIM:613658
HP:0011843	Abnormal musculoskeletal physiology	57459	GATAD2B	ORPHA:363686
HP:0011843	Abnormal musculoskeletal physiology	5605	MAP2K2	OMIM:615280
HP:0011843	Abnormal musculoskeletal physiology	715	C1R	OMIM:130080
HP:0011843	Abnormal musculoskeletal physiology	1742	DLG4	OMIM:618793
HP:0011843	Abnormal musculoskeletal physiology	124583	CANT1	OMIM:251450
HP:0011843	Abnormal musculoskeletal physiology	3187	HNRNPH1	OMIM:620083
HP:0011843	Abnormal musculoskeletal physiology	4920	ROR2	OMIM:268310
HP:0011843	Abnormal musculoskeletal physiology	5295	PIK3R1	OMIM:269880
HP:0011843	Abnormal musculoskeletal physiology	3835	KIF22	OMIM:603546
HP:0011843	Abnormal musculoskeletal physiology	3835	KIF22	ORPHA:93360
HP:0011843	Abnormal musculoskeletal physiology	54941	RNF125	OMIM:616260
HP:0011843	Abnormal musculoskeletal physiology	23483	TGDS	OMIM:616145
HP:0011843	Abnormal musculoskeletal physiology	55084	SOBP	OMIM:613671
HP:0011843	Abnormal musculoskeletal physiology	10516	FBLN5	ORPHA:90348
HP:0011843	Abnormal musculoskeletal physiology	10516	FBLN5	ORPHA:90349
HP:0011843	Abnormal musculoskeletal physiology	10516	FBLN5	OMIM:219100
HP:0011843	Abnormal musculoskeletal physiology	5832	ALDH18A1	ORPHA:90348
HP:0011843	Abnormal musculoskeletal physiology	5832	ALDH18A1	OMIM:616603
HP:0011843	Abnormal musculoskeletal physiology	4088	SMAD3	OMIM:613795
HP:0011843	Abnormal musculoskeletal physiology	4088	SMAD3	ORPHA:284984
HP:0011843	Abnormal musculoskeletal physiology	4052	LTBP1	ORPHA:90349
HP:0011843	Abnormal musculoskeletal physiology	4052	LTBP1	OMIM:619451
HP:0011843	Abnormal musculoskeletal physiology	30008	EFEMP2	ORPHA:90349
HP:0011843	Abnormal musculoskeletal physiology	1107	CHD3	OMIM:618205
HP:0011843	Abnormal musculoskeletal physiology	60681	FKBP10	OMIM:610968
HP:0011843	Abnormal musculoskeletal physiology	60681	FKBP10	OMIM:259450
HP:0011843	Abnormal musculoskeletal physiology	54903	MKS1	OMIM:617121
HP:0011843	Abnormal musculoskeletal physiology	4883	NPR3	OMIM:619543
HP:0011843	Abnormal musculoskeletal physiology	112752	IFT43	OMIM:614099
HP:0011843	Abnormal musculoskeletal physiology	93587	TRMT10A	OMIM:616033
HP:0011843	Abnormal musculoskeletal physiology	93587	TRMT10A	ORPHA:391408
HP:0011843	Abnormal musculoskeletal physiology	2702	GJA5	OMIM:612474
HP:0011843	Abnormal musculoskeletal physiology	2703	GJA8	OMIM:612474
HP:0011843	Abnormal musculoskeletal physiology	867	CBL	OMIM:613563
HP:0011843	Abnormal musculoskeletal physiology	7046	TGFBR1	OMIM:609192
HP:0011843	Abnormal musculoskeletal physiology	1642	DDB1	OMIM:619426
HP:0011843	Abnormal musculoskeletal physiology	164	AP1G1	OMIM:619548
HP:0011843	Abnormal musculoskeletal physiology	81603	TRIM8	OMIM:619428
HP:0011843	Abnormal musculoskeletal physiology	3720	JARID2	OMIM:620098
HP:0011843	Abnormal musculoskeletal physiology	5979	RET	OMIM:162300
HP:0011843	Abnormal musculoskeletal physiology	65992	DDRGK1	OMIM:602557
HP:0011843	Abnormal musculoskeletal physiology	65992	DDRGK1	ORPHA:93352
HP:0011843	Abnormal musculoskeletal physiology	5351	PLOD1	OMIM:225400
HP:0011843	Abnormal musculoskeletal physiology	84627	ZNF469	OMIM:229200
HP:0011843	Abnormal musculoskeletal physiology	57102	C12orf4	OMIM:618221
HP:0011843	Abnormal musculoskeletal physiology	92335	STRADA	ORPHA:500533
HP:0011843	Abnormal musculoskeletal physiology	92335	STRADA	OMIM:611087
HP:0011843	Abnormal musculoskeletal physiology	79650	USB1	OMIM:604173
HP:0011843	Abnormal musculoskeletal physiology	2623	GATA1	OMIM:190685
HP:0011843	Abnormal musculoskeletal physiology	29998	BICRA	OMIM:619325
HP:0011843	Abnormal musculoskeletal physiology	1654	DDX3X	ORPHA:457260
HP:0011843	Abnormal musculoskeletal physiology	176	ACAN	OMIM:612813
HP:0011843	Abnormal musculoskeletal physiology	176	ACAN	ORPHA:171866
HP:0011843	Abnormal musculoskeletal physiology	26224	FBXL3	OMIM:606220
HP:0011843	Abnormal musculoskeletal physiology	4297	KMT2A	OMIM:605130
HP:0011843	Abnormal musculoskeletal physiology	2239	GPC4	OMIM:301026
HP:0011843	Abnormal musculoskeletal physiology	4141	MARS1	OMIM:619692
HP:0011843	Abnormal musculoskeletal physiology	55603	TENT5A	OMIM:617952
HP:0011843	Abnormal musculoskeletal physiology	6597	SMARCA4	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	6659	SOX4	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	8289	ARID1A	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	5977	DPF2	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	6601	SMARCC2	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	6602	SMARCD1	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	196528	ARID2	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	6605	SMARCE1	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	6664	SOX11	ORPHA:1465
HP:0011843	Abnormal musculoskeletal physiology	64131	XYLT1	OMIM:615777
HP:0011843	Abnormal musculoskeletal physiology	64131	XYLT1	ORPHA:370930
HP:0011843	Abnormal musculoskeletal physiology	2019	EN1	OMIM:619218
HP:0011843	Abnormal musculoskeletal physiology	29940	DSE	OMIM:615539
HP:0011843	Abnormal musculoskeletal physiology	6678	SPARC	OMIM:616507
HP:0011843	Abnormal musculoskeletal physiology	3759	KCNJ2	OMIM:170390
HP:0011843	Abnormal musculoskeletal physiology	3759	KCNJ2	ORPHA:37553
HP:0011843	Abnormal musculoskeletal physiology	55764	IFT122	OMIM:218330
HP:0011843	Abnormal musculoskeletal physiology	444	ASPH	OMIM:601552
HP:0011843	Abnormal musculoskeletal physiology	22827	PUF60	ORPHA:508488
HP:0011843	Abnormal musculoskeletal physiology	22827	PUF60	OMIM:615583
HP:0011843	Abnormal musculoskeletal physiology	80324	PUS1	OMIM:600462
HP:0011843	Abnormal musculoskeletal physiology	372	ARCN1	OMIM:617164
HP:0011843	Abnormal musculoskeletal physiology	79576	NKAP	OMIM:301039
HP:0011843	Abnormal musculoskeletal physiology	4015	LOX	OMIM:617168
HP:0011843	Abnormal musculoskeletal physiology	7403	KDM6A	OMIM:300867
HP:0011843	Abnormal musculoskeletal physiology	3188	HNRNPH2	OMIM:300986
HP:0011843	Abnormal musculoskeletal physiology	4041	LRP5	ORPHA:2788
HP:0011843	Abnormal musculoskeletal physiology	5144	PDE4D	ORPHA:439822
HP:0011843	Abnormal musculoskeletal physiology	175	AGA	OMIM:208400
HP:0011843	Abnormal musculoskeletal physiology	79633	FAT4	OMIM:615546
HP:0011843	Abnormal musculoskeletal physiology	79718	TBL1XR1	ORPHA:487825
HP:0011843	Abnormal musculoskeletal physiology	64840	PORCN	OMIM:305600
HP:0011843	Abnormal musculoskeletal physiology	84265	POLR3GL	OMIM:619234
HP:0011843	Abnormal musculoskeletal physiology	57003	CCDC47	OMIM:618268
HP:0011843	Abnormal musculoskeletal physiology	57187	THOC2	OMIM:300957
HP:0011843	Abnormal musculoskeletal physiology	57061	HYMAI	ORPHA:96191
HP:0011843	Abnormal musculoskeletal physiology	5325	PLAGL1	ORPHA:96191
HP:0011843	Abnormal musculoskeletal physiology	10526	IPO8	OMIM:619472
HP:0011843	Abnormal musculoskeletal physiology	2892	GRIA3	ORPHA:364028
HP:0011843	Abnormal musculoskeletal physiology	10367	MICU1	OMIM:615673
HP:0011843	Abnormal musculoskeletal physiology	94005	PIGS	OMIM:618143
HP:0011843	Abnormal musculoskeletal physiology	145173	B3GLCT	OMIM:261540
HP:0011843	Abnormal musculoskeletal physiology	6711	SPTBN1	OMIM:619475
HP:0011843	Abnormal musculoskeletal physiology	2588	GALNS	OMIM:253000
HP:0011843	Abnormal musculoskeletal physiology	92002	CCNQ	OMIM:300707
HP:0011843	Abnormal musculoskeletal physiology	4361	MRE11	ORPHA:251347
HP:0011843	Abnormal musculoskeletal physiology	9894	TELO2	ORPHA:488642
HP:0011843	Abnormal musculoskeletal physiology	113189	CHST14	OMIM:601776
HP:0011843	Abnormal musculoskeletal physiology	4841	NONO	OMIM:300967
HP:0011843	Abnormal musculoskeletal physiology	4841	NONO	ORPHA:466791
HP:0011843	Abnormal musculoskeletal physiology	8318	CDC45	OMIM:617063
HP:0011843	Abnormal musculoskeletal physiology	60482	SLC5A7	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	4649	MYO9A	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	1305	COL13A1	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	1103	CHAT	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	6576	SLC25A1	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	375790	AGRN	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	127833	SYT2	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	6572	SLC18A3	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	6616	SNAP25	ORPHA:98914
HP:0011843	Abnormal musculoskeletal physiology	84919	PPP1R15B	ORPHA:391408
HP:0011843	Abnormal musculoskeletal physiology	6497	SKI	OMIM:182212
HP:0011843	Abnormal musculoskeletal physiology	5879	RAC1	OMIM:617751
HP:0011843	Abnormal musculoskeletal physiology	5879	RAC1	ORPHA:500159
HP:0011843	Abnormal musculoskeletal physiology	54187	NANS	OMIM:610442
HP:0011843	Abnormal musculoskeletal physiology	5076	PAX2	OMIM:120330
HP:0011843	Abnormal musculoskeletal physiology	1513	CTSK	ORPHA:763
HP:0011843	Abnormal musculoskeletal physiology	529	ATP6V1E1	OMIM:617402
HP:0011843	Abnormal musculoskeletal physiology	26123	TCTN3	OMIM:614815
HP:0011843	Abnormal musculoskeletal physiology	7042	TGFB2	OMIM:614816
HP:0011843	Abnormal musculoskeletal physiology	871	SERPINH1	OMIM:613848
HP:0011843	Abnormal musculoskeletal physiology	3762	KCNJ5	ORPHA:37553
HP:0011843	Abnormal musculoskeletal physiology	6299	SALL1	OMIM:107480
HP:0011843	Abnormal musculoskeletal physiology	291	SLC25A4	OMIM:615418
HP:0011843	Abnormal musculoskeletal physiology	4556	MT-TE	ORPHA:2596
HP:0011843	Abnormal musculoskeletal physiology	2705	GJB1	OMIM:302800
HP:0011843	Abnormal musculoskeletal physiology	26090	ABHD12	OMIM:612674
HP:0011843	Abnormal musculoskeletal physiology	729920	CRPPA	ORPHA:370980
HP:0011843	Abnormal musculoskeletal physiology	1832	DSP	ORPHA:158687
HP:0011843	Abnormal musculoskeletal physiology	3728	JUP	ORPHA:158687
HP:0011843	Abnormal musculoskeletal physiology	91179	SCARF2	OMIM:600920
HP:0011843	Abnormal musculoskeletal physiology	22948	CCT5	OMIM:256840
HP:0011843	Abnormal musculoskeletal physiology	22948	CCT5	ORPHA:139578
HP:0011843	Abnormal musculoskeletal physiology	7879	RAB7A	OMIM:600882
HP:0011843	Abnormal musculoskeletal physiology	79577	CDC73	ORPHA:143
HP:0011843	Abnormal musculoskeletal physiology	79577	CDC73	ORPHA:99880
HP:0011843	Abnormal musculoskeletal physiology	23095	KIF1B	OMIM:256700
HP:0011843	Abnormal musculoskeletal physiology	1991	ELANE	ORPHA:2686
HP:0011843	Abnormal musculoskeletal physiology	5426	POLE	OMIM:615139
HP:0011843	Abnormal musculoskeletal physiology	1175	AP2S1	OMIM:600740
HP:0011843	Abnormal musculoskeletal physiology	7010	TEK	ORPHA:1059
HP:0011843	Abnormal musculoskeletal physiology	5660	PSAP	OMIM:610539
HP:0011843	Abnormal musculoskeletal physiology	8074	FGF23	ORPHA:89937
HP:0011843	Abnormal musculoskeletal physiology	8074	FGF23	OMIM:193100
HP:0011843	Abnormal musculoskeletal physiology	5345	SERPINF2	ORPHA:79
HP:0011843	Abnormal musculoskeletal physiology	1758	DMP1	ORPHA:289176
HP:0011843	Abnormal musculoskeletal physiology	5371	PML	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	5914	RARA	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	359948	IRF2BP2	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	81608	FIP1L1	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	64859	NABP1	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	6777	STAT5B	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	4926	NUMA1	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	7704	ZBTB16	ORPHA:520
HP:0011843	Abnormal musculoskeletal physiology	10312	TCIRG1	ORPHA:210110
HP:0011843	Abnormal musculoskeletal physiology	9842	PLEKHM1	ORPHA:210110
HP:0011843	Abnormal musculoskeletal physiology	1594	CYP27B1	ORPHA:289157
HP:0011843	Abnormal musculoskeletal physiology	120227	CYP2R1	ORPHA:289157
HP:0011843	Abnormal musculoskeletal physiology	9368	NHERF1	OMIM:612287
HP:0011843	Abnormal musculoskeletal physiology	1593	CYP27A1	ORPHA:909
HP:0011843	Abnormal musculoskeletal physiology	6569	SLC34A1	OMIM:612286
HP:0011843	Abnormal musculoskeletal physiology	6569	SLC34A1	ORPHA:3337
HP:0011843	Abnormal musculoskeletal physiology	249	ALPL	OMIM:146300
HP:0011843	Abnormal musculoskeletal physiology	249	ALPL	OMIM:241500
HP:0011843	Abnormal musculoskeletal physiology	8622	PDE8B	ORPHA:189439
HP:0011843	Abnormal musculoskeletal physiology	50940	PDE11A	ORPHA:189439
HP:0011843	Abnormal musculoskeletal physiology	54790	TET2	ORPHA:98849
HP:0011843	Abnormal musculoskeletal physiology	3815	KIT	ORPHA:98849
HP:0011843	Abnormal musculoskeletal physiology	6427	SRSF2	ORPHA:98849
HP:0011843	Abnormal musculoskeletal physiology	79798	ARMC5	ORPHA:189427
HP:0011843	Abnormal musculoskeletal physiology	55249	YY1AP1	ORPHA:79094
HP:0011843	Abnormal musculoskeletal physiology	55249	YY1AP1	OMIM:602531
HP:0011843	Abnormal musculoskeletal physiology	3178	HNRNPA1	ORPHA:52430
HP:0011843	Abnormal musculoskeletal physiology	3181	HNRNPA2B1	ORPHA:52430
HP:0011843	Abnormal musculoskeletal physiology	2542	SLC37A4	ORPHA:79259
HP:0011843	Abnormal musculoskeletal physiology	1962	EHHADH	ORPHA:3337
HP:0011843	Abnormal musculoskeletal physiology	2628	GATM	ORPHA:3337
HP:0011843	Abnormal musculoskeletal physiology	137682	NDUFAF6	ORPHA:3337
HP:0011843	Abnormal musculoskeletal physiology	1027	CDKN1B	ORPHA:652
HP:0011843	Abnormal musculoskeletal physiology	1026	CDKN1A	ORPHA:652
HP:0011843	Abnormal musculoskeletal physiology	1030	CDKN2B	ORPHA:652
HP:0011843	Abnormal musculoskeletal physiology	1031	CDKN2C	ORPHA:652
HP:0011843	Abnormal musculoskeletal physiology	4323	MMP14	ORPHA:371428
HP:0011843	Abnormal musculoskeletal physiology	1678	TIMM8A	OMIM:304700
HP:0011843	Abnormal musculoskeletal physiology	860	RUNX2	OMIM:119600
HP:0011843	Abnormal musculoskeletal physiology	80025	PANK2	ORPHA:216866
HP:0011843	Abnormal musculoskeletal physiology	55151	TMEM38B	OMIM:615066
HP:0011843	Abnormal musculoskeletal physiology	85446	ZFHX2	OMIM:147430
HP:0011843	Abnormal musculoskeletal physiology	4803	NGF	ORPHA:64752
HP:0011843	Abnormal musculoskeletal physiology	4803	NGF	OMIM:608654
HP:0011843	Abnormal musculoskeletal physiology	54463	RETREG1	OMIM:201300
HP:0011843	Abnormal musculoskeletal physiology	65125	WNK1	OMIM:201300
HP:0011843	Abnormal musculoskeletal physiology	1497	CTNS	OMIM:219800
HP:0011843	Abnormal musculoskeletal physiology	1497	CTNS	ORPHA:411634
HP:0011843	Abnormal musculoskeletal physiology	83932	SPRTN	OMIM:616200
HP:0011843	Abnormal musculoskeletal physiology	91147	TMEM67	OMIM:602152
HP:0011843	Abnormal musculoskeletal physiology	91147	TMEM67	ORPHA:140976
HP:0011843	Abnormal musculoskeletal physiology	283120	H19	ORPHA:231140
HP:0011843	Abnormal musculoskeletal physiology	283120	H19	ORPHA:231144
HP:0011843	Abnormal musculoskeletal physiology	7849	PAX8	OMIM:218700
HP:0011843	Abnormal musculoskeletal physiology	1528	CYB5A	ORPHA:90796
HP:0011843	Abnormal musculoskeletal physiology	1586	CYP17A1	ORPHA:90796
HP:0011843	Abnormal musculoskeletal physiology	1586	CYP17A1	ORPHA:90793
HP:0011843	Abnormal musculoskeletal physiology	4758	NEU1	ORPHA:812
HP:0011843	Abnormal musculoskeletal physiology	2693	GHSR	OMIM:615925
HP:0011843	Abnormal musculoskeletal physiology	2693	GHSR	ORPHA:314811
HP:0011843	Abnormal musculoskeletal physiology	79048	SECISBP2	OMIM:609698
HP:0011843	Abnormal musculoskeletal physiology	79048	SECISBP2	ORPHA:171706
HP:0011843	Abnormal musculoskeletal physiology	7252	TSHB	ORPHA:90674
HP:0011843	Abnormal musculoskeletal physiology	6884	TAF13	OMIM:617432
HP:0011843	Abnormal musculoskeletal physiology	2688	GH1	OMIM:262650
HP:0011843	Abnormal musculoskeletal physiology	2688	GH1	OMIM:612781
HP:0011843	Abnormal musculoskeletal physiology	3483	IGFALS	ORPHA:140941
HP:0011843	Abnormal musculoskeletal physiology	55366	LGR4	OMIM:619613
HP:0011843	Abnormal musculoskeletal physiology	1327	COX4I1	OMIM:619060
HP:0011843	Abnormal musculoskeletal physiology	7469	NELFA	ORPHA:280
HP:0011843	Abnormal musculoskeletal physiology	51199	NIN	OMIM:614851
HP:0011843	Abnormal musculoskeletal physiology	51199	NIN	ORPHA:319675
HP:0011843	Abnormal musculoskeletal physiology	93627	TBCK	ORPHA:488632
HP:0011843	Abnormal musculoskeletal physiology	6845	VAMP7	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	51741	WWOX	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	4214	MAP3K1	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	2516	NR5A1	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	2516	NR5A1	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	7490	WT1	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	58524	DMRT3	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	57647	DHX37	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	6736	SRY	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	6736	SRY	ORPHA:1772
HP:0011843	Abnormal musculoskeletal physiology	23414	ZFPM2	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	190	NR0B1	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	2626	GATA4	ORPHA:251510
HP:0011843	Abnormal musculoskeletal physiology	5826	ABCD4	OMIM:614857
HP:0011843	Abnormal musculoskeletal physiology	7025	NR2F1	ORPHA:401777
HP:0011843	Abnormal musculoskeletal physiology	10043	TOM1	ORPHA:391487
HP:0011843	Abnormal musculoskeletal physiology	402381	SOHLH1	OMIM:617690
HP:0011843	Abnormal musculoskeletal physiology	6905	TBCE	OMIM:241410
HP:0011843	Abnormal musculoskeletal physiology	6905	TBCE	OMIM:244460
HP:0011843	Abnormal musculoskeletal physiology	6905	TBCE	ORPHA:2323
HP:0011843	Abnormal musculoskeletal physiology	6905	TBCE	ORPHA:93324
HP:0011843	Abnormal musculoskeletal physiology	80067	DCAF17	ORPHA:3464
HP:0011843	Abnormal musculoskeletal physiology	5626	PROP1	ORPHA:95494
HP:0011843	Abnormal musculoskeletal physiology	5626	PROP1	ORPHA:90695
HP:0011843	Abnormal musculoskeletal physiology	3170	FOXA2	ORPHA:95494
HP:0011843	Abnormal musculoskeletal physiology	5449	POU1F1	ORPHA:95494
HP:0011843	Abnormal musculoskeletal physiology	5422	POLA1	ORPHA:163976
HP:0011843	Abnormal musculoskeletal physiology	11261	CHP1	OMIM:618438
HP:0011843	Abnormal musculoskeletal physiology	2488	FSHB	OMIM:229070
HP:0011843	Abnormal musculoskeletal physiology	2488	FSHB	ORPHA:52901
HP:0011843	Abnormal musculoskeletal physiology	5286	PIK3C2A	OMIM:618440
HP:0011843	Abnormal musculoskeletal physiology	5286	PIK3C2A	ORPHA:557003
HP:0011843	Abnormal musculoskeletal physiology	7201	TRHR	ORPHA:99832
HP:0011843	Abnormal musculoskeletal physiology	7201	TRHR	OMIM:618573
HP:0011843	Abnormal musculoskeletal physiology	29893	PSMC3IP	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	171568	POLR3H	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	125150	ZSWIM7	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	9210	BMP15	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	23514	SPIDR	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	23514	SPIDR	OMIM:619665
HP:0011843	Abnormal musculoskeletal physiology	2492	FSHR	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	56945	MRPS22	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	56945	MRPS22	OMIM:618117
HP:0011843	Abnormal musculoskeletal physiology	646	BNC1	ORPHA:243
HP:0011843	Abnormal musculoskeletal physiology	4509	MT-ATP8	ORPHA:480
HP:0011843	Abnormal musculoskeletal physiology	4567	MT-TL1	ORPHA:480
HP:0011843	Abnormal musculoskeletal physiology	51025	PAM16	OMIM:613320
HP:0011843	Abnormal musculoskeletal physiology	6307	MSMO1	OMIM:616834
HP:0011843	Abnormal musculoskeletal physiology	55081	IFT57	OMIM:617927
HP:0011843	Abnormal musculoskeletal physiology	6658	SOX3	ORPHA:90695
HP:0011843	Abnormal musculoskeletal physiology	6658	SOX3	ORPHA:67045
HP:0011843	Abnormal musculoskeletal physiology	7507	XPA	ORPHA:910
HP:0011843	Abnormal musculoskeletal physiology	7508	XPC	ORPHA:910
HP:0011843	Abnormal musculoskeletal physiology	1643	DDB2	ORPHA:910
HP:0011843	Abnormal musculoskeletal physiology	3480	IGF1R	ORPHA:73273
HP:0011843	Abnormal musculoskeletal physiology	3480	IGF1R	OMIM:270450
HP:0011843	Abnormal musculoskeletal physiology	3479	IGF1	ORPHA:73272
HP:0011843	Abnormal musculoskeletal physiology	3479	IGF1	OMIM:608747
HP:0011843	Abnormal musculoskeletal physiology	5122	PCSK1	ORPHA:71528
HP:0011843	Abnormal musculoskeletal physiology	5443	POMC	ORPHA:71526
HP:0011843	Abnormal musculoskeletal physiology	2690	GHR	ORPHA:314802
HP:0011843	Abnormal musculoskeletal physiology	2690	GHR	OMIM:262500
HP:0011843	Abnormal musculoskeletal physiology	2690	GHR	ORPHA:633
HP:0011843	Abnormal musculoskeletal physiology	8091	HMGA2	OMIM:618908
HP:0011843	Abnormal musculoskeletal physiology	7200	TRH	OMIM:275120
HP:0011843	Abnormal musculoskeletal physiology	254394	MCM9	OMIM:616185
HP:0011843	Abnormal musculoskeletal physiology	2138	EYA1	ORPHA:2792
HP:0011843	Abnormal musculoskeletal physiology	5075	PAX1	ORPHA:2792
HP:0011843	Abnormal musculoskeletal physiology	51608	GET4	OMIM:620200
HP:0011843	Abnormal musculoskeletal physiology	1583	CYP11A1	ORPHA:289548
HP:0011843	Abnormal musculoskeletal physiology	1583	CYP11A1	ORPHA:168558
HP:0011843	Abnormal musculoskeletal physiology	7067	THRA	OMIM:614450
HP:0011843	Abnormal musculoskeletal physiology	84701	COX4I2	OMIM:612714
HP:0011843	Abnormal musculoskeletal physiology	29957	SLC25A24	OMIM:612289
HP:0011843	Abnormal musculoskeletal physiology	2887	GRB10	ORPHA:96182
HP:0011843	Abnormal musculoskeletal physiology	8567	MADD	OMIM:619004
HP:0011843	Abnormal musculoskeletal physiology	374879	ZNF699	OMIM:619488
HP:0011843	Abnormal musculoskeletal physiology	2692	GHRHR	OMIM:618157
HP:0011843	Abnormal musculoskeletal physiology	54870	QRICH1	OMIM:617982
HP:0011843	Abnormal musculoskeletal physiology	9702	CEP57	OMIM:614114
HP:0011843	Abnormal musculoskeletal physiology	4780	NFE2L2	OMIM:617744
HP:0011843	Abnormal musculoskeletal physiology	5456	POU3F4	ORPHA:1435
HP:0011843	Abnormal musculoskeletal physiology	55599	RNPC3	OMIM:618160
HP:0011843	Abnormal musculoskeletal physiology	650	BMP2	OMIM:617877
HP:0011843	Abnormal musculoskeletal physiology	51594	NBAS	OMIM:614800
HP:0011843	Abnormal musculoskeletal physiology	3295	HSD17B4	OMIM:261515
HP:0011843	Abnormal musculoskeletal physiology	64802	NMNAT1	OMIM:619260
HP:0011843	Abnormal musculoskeletal physiology	3735	KARS1	OMIM:619147
HP:0011843	Abnormal musculoskeletal physiology	1804	DPP6	OMIM:616311
HP:0011843	Abnormal musculoskeletal physiology	10892	MALT1	OMIM:615468
HP:0011843	Abnormal musculoskeletal physiology	63901	FAM111A	ORPHA:93325
HP:0011843	Abnormal musculoskeletal physiology	3689	ITGB2	OMIM:116920
HP:0011843	Abnormal musculoskeletal physiology	4688	NCF2	OMIM:233710
HP:0011843	Abnormal musculoskeletal physiology	6340	SCNN1G	ORPHA:171876
HP:0011843	Abnormal musculoskeletal physiology	6337	SCNN1A	ORPHA:171876
HP:0011843	Abnormal musculoskeletal physiology	6338	SCNN1B	ORPHA:171876
HP:0011843	Abnormal musculoskeletal physiology	1786	DNMT1	OMIM:614116
HP:0011843	Abnormal musculoskeletal physiology	79631	EFL1	ORPHA:811
HP:0011843	Abnormal musculoskeletal physiology	51119	SBDS	ORPHA:811
HP:0011843	Abnormal musculoskeletal physiology	6729	SRP54	ORPHA:811
HP:0011843	Abnormal musculoskeletal physiology	695	BTK	ORPHA:47
HP:0011843	Abnormal musculoskeletal physiology	5966	REL	OMIM:619652
HP:0011843	Abnormal musculoskeletal physiology	6772	STAT1	OMIM:614162
HP:0011843	Abnormal musculoskeletal physiology	50943	FOXP3	ORPHA:37042
HP:0011843	Abnormal musculoskeletal physiology	1535	CYBA	OMIM:233690
HP:0011843	Abnormal musculoskeletal physiology	6850	SYK	OMIM:619381
HP:0011843	Abnormal musculoskeletal physiology	1536	CYBB	OMIM:306400
HP:0011843	Abnormal musculoskeletal physiology	2624	GATA2	OMIM:614172
HP:0011843	Abnormal musculoskeletal physiology	205327	C2orf69	OMIM:619423
HP:0011843	Abnormal musculoskeletal physiology	6929	TCF3	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	973	CD79A	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	974	CD79B	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	3543	IGLL1	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	3507	IGHM	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	29760	BLNK	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	56262	LRRC8A	ORPHA:33110
HP:0011843	Abnormal musculoskeletal physiology	861	RUNX1	ORPHA:98850
HP:0011843	Abnormal musculoskeletal physiology	189	AGXT	OMIM:259900
HP:0011843	Abnormal musculoskeletal physiology	5925	RB1	ORPHA:668
HP:0011843	Abnormal musculoskeletal physiology	11200	CHEK2	ORPHA:668
HP:0011843	Abnormal musculoskeletal physiology	51124	IER3IP1	OMIM:614231
HP:0011843	Abnormal musculoskeletal physiology	2710	GK	OMIM:307030
HP:0011843	Abnormal musculoskeletal physiology	6609	SMPD1	ORPHA:77293
HP:0011843	Abnormal musculoskeletal physiology	7390	UROS	OMIM:263700
HP:0011843	Abnormal musculoskeletal physiology	6521	SLC4A1	OMIM:179800
HP:0011843	Abnormal musculoskeletal physiology	6522	SLC4A2	OMIM:620366
HP:0011843	Abnormal musculoskeletal physiology	6309	SC5D	OMIM:607330
HP:0011843	Abnormal musculoskeletal physiology	8322	FZD4	OMIM:133780
HP:0011843	Abnormal musculoskeletal physiology	7421	VDR	ORPHA:93160
HP:0011843	Abnormal musculoskeletal physiology	7421	VDR	OMIM:277440
HP:0011843	Abnormal musculoskeletal physiology	55503	TRPV6	OMIM:618188
HP:0011843	Abnormal musculoskeletal physiology	55503	TRPV6	ORPHA:417
HP:0011843	Abnormal musculoskeletal physiology	29887	SNX10	ORPHA:667
HP:0011843	Abnormal musculoskeletal physiology	1184	CLCN5	OMIM:300009
HP:0011843	Abnormal musculoskeletal physiology	1184	CLCN5	OMIM:300554
HP:0011843	Abnormal musculoskeletal physiology	846	CASR	ORPHA:417
HP:0011843	Abnormal musculoskeletal physiology	846	CASR	OMIM:239200
HP:0011843	Abnormal musculoskeletal physiology	2304	FOXE1	ORPHA:319487
HP:0011843	Abnormal musculoskeletal physiology	3026	HABP2	ORPHA:319487
HP:0011843	Abnormal musculoskeletal physiology	9562	MINPP1	ORPHA:319487
HP:0011843	Abnormal musculoskeletal physiology	10265	IRX5	OMIM:611174
HP:0011843	Abnormal musculoskeletal physiology	7841	MOGS	OMIM:606056
HP:0011843	Abnormal musculoskeletal physiology	9056	SLC7A7	OMIM:222700
HP:0011843	Abnormal musculoskeletal physiology	89780	WNT3A	ORPHA:85193
HP:0011843	Abnormal musculoskeletal physiology	760	CA2	ORPHA:2785
HP:0011843	Abnormal musculoskeletal physiology	142680	SLC34A3	OMIM:241530
HP:0011843	Abnormal musculoskeletal physiology	9276	COPB2	OMIM:619884
HP:0011843	Abnormal musculoskeletal physiology	50484	RRM2B	OMIM:268315
HP:0011843	Abnormal musculoskeletal physiology	8218	CLTCL1	ORPHA:453510
HP:0011843	Abnormal musculoskeletal physiology	166929	SGMS2	OMIM:126550
HP:0011843	Abnormal musculoskeletal physiology	57592	ZNF687	OMIM:616833
HP:0011843	Abnormal musculoskeletal physiology	10371	SEMA3A	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	23767	FLRT3	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	79625	NDNF	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	389549	FEZF1	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	3730	ANOS1	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	54756	IL17RD	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	285025	CCDC141	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	8820	HESX1	ORPHA:478
HP:0011843	Abnormal musculoskeletal physiology	9179	AP4M1	ORPHA:280763
HP:0011843	Abnormal musculoskeletal physiology	55784	MCTP2	ORPHA:1596
HP:0011843	Abnormal musculoskeletal physiology	55154	MSTO1	ORPHA:502423
HP:0011843	Abnormal musculoskeletal physiology	777	CACNA1E	OMIM:618285
HP:0011843	Abnormal musculoskeletal physiology	100128927	ZBTB42	OMIM:616248
HP:0011843	Abnormal musculoskeletal physiology	283989	TSEN54	OMIM:277470
HP:0011843	Abnormal musculoskeletal physiology	283989	TSEN54	OMIM:225753
HP:0011843	Abnormal musculoskeletal physiology	4620	MYH2	OMIM:605637
HP:0011843	Abnormal musculoskeletal physiology	26053	AUTS2	ORPHA:352490
HP:0011843	Abnormal musculoskeletal physiology	5081	PAX7	OMIM:618578
HP:0011843	Abnormal musculoskeletal physiology	7443	VRK1	OMIM:607596
HP:0011843	Abnormal musculoskeletal physiology	26153	KIF26A	OMIM:620156
HP:0011843	Abnormal musculoskeletal physiology	1718	DHCR24	OMIM:602398
HP:0011843	Abnormal musculoskeletal physiology	1145	CHRNE	OMIM:608931
HP:0011843	Abnormal musculoskeletal physiology	55627	SMPD4	OMIM:618622
HP:0011843	Abnormal musculoskeletal physiology	55593	OTUD5	OMIM:301056
HP:0011843	Abnormal musculoskeletal physiology	56975	FAM20C	OMIM:259775
HP:0011843	Abnormal musculoskeletal physiology	5980	REV3L	ORPHA:570
HP:0011843	Abnormal musculoskeletal physiology	23129	PLXND1	ORPHA:570
HP:0011843	Abnormal musculoskeletal physiology	63925	ZNF335	OMIM:615095
HP:0011843	Abnormal musculoskeletal physiology	1020	CDK5	OMIM:616342
HP:0011843	Abnormal musculoskeletal physiology	91869	RFT1	ORPHA:244310
HP:0011843	Abnormal musculoskeletal physiology	6663	SOX10	ORPHA:163746
HP:0011843	Abnormal musculoskeletal physiology	6663	SOX10	OMIM:609136
HP:0011843	Abnormal musculoskeletal physiology	26276	VPS33B	OMIM:208085
HP:0011843	Abnormal musculoskeletal physiology	57498	KIDINS220	OMIM:619501
HP:0011843	Abnormal musculoskeletal physiology	63894	VIPAS39	OMIM:613404
HP:0011843	Abnormal musculoskeletal physiology	2065	ERBB3	OMIM:243180
HP:0011843	Abnormal musculoskeletal physiology	2065	ERBB3	OMIM:607598
HP:0011843	Abnormal musculoskeletal physiology	23265	EXOC7	OMIM:619072
HP:0011843	Abnormal musculoskeletal physiology	1182	CLCN3	OMIM:619512
HP:0011843	Abnormal musculoskeletal physiology	5530	PPP3CA	OMIM:618265
HP:0011843	Abnormal musculoskeletal physiology	23287	AGTPBP1	ORPHA:2254
HP:0011843	Abnormal musculoskeletal physiology	55165	CEP55	OMIM:236500
HP:0011843	Abnormal musculoskeletal physiology	3800	KIF5C	OMIM:615282
HP:0011843	Abnormal musculoskeletal physiology	9928	KIF14	OMIM:616258
HP:0011843	Abnormal musculoskeletal physiology	3911	LAMA5	OMIM:620076
HP:0011843	Abnormal musculoskeletal physiology	9319	TRIP13	OMIM:617598
HP:0011843	Abnormal musculoskeletal physiology	200205	IBA57	OMIM:615330
HP:0011843	Abnormal musculoskeletal physiology	91574	MTRFR	ORPHA:320375
HP:0011843	Abnormal musculoskeletal physiology	23769	FLRT1	ORPHA:320406
HP:0011843	Abnormal musculoskeletal physiology	1763	DNA2	ORPHA:352470
HP:0011843	Abnormal musculoskeletal physiology	23396	PIP5K1C	OMIM:611369
HP:0011843	Abnormal musculoskeletal physiology	9499	MYOT	ORPHA:98911
HP:0011843	Abnormal musculoskeletal physiology	5981	RFC1	ORPHA:504476
HP:0011843	Abnormal musculoskeletal physiology	404672	GTF2H5	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	7737	RNF113A	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	136647	MPLKIP	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	6897	TARS1	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	2071	ERCC3	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	2961	GTF2E2	ORPHA:33364
HP:0011843	Abnormal musculoskeletal physiology	10535	RNASEH2A	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	84153	RNASEH2C	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	79621	RNASEH2B	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	103	ADAR	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	100147744	RNU7-1	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	134353	LSM11	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	64135	IFIH1	ORPHA:51
HP:0011843	Abnormal musculoskeletal physiology	6660	SOX5	ORPHA:313892
HP:0011843	Abnormal musculoskeletal physiology	8643	PTCH2	ORPHA:377
HP:0011843	Abnormal musculoskeletal physiology	51684	SUFU	ORPHA:377
HP:0011843	Abnormal musculoskeletal physiology	54361	WNT4	ORPHA:3109
HP:0011843	Abnormal musculoskeletal physiology	29123	ANKRD11	ORPHA:2332
HP:0011843	Abnormal musculoskeletal physiology	29123	ANKRD11	OMIM:148050
HP:0011843	Abnormal musculoskeletal physiology	55191	NADSYN1	OMIM:618845
HP:0011843	Abnormal musculoskeletal physiology	53834	FGFRL1	OMIM:194190
HP:0011843	Abnormal musculoskeletal physiology	1487	CTBP1	OMIM:194190
HP:0011843	Abnormal musculoskeletal physiology	3954	LETM1	OMIM:194190
HP:0011843	Abnormal musculoskeletal physiology	7468	NSD2	OMIM:194190
HP:0011843	Abnormal musculoskeletal physiology	10815	CPLX1	OMIM:194190
HP:0011843	Abnormal musculoskeletal physiology	4990	SIX6	OMIM:206900
HP:0011843	Abnormal musculoskeletal physiology	6657	SOX2	OMIM:206900
HP:0011843	Abnormal musculoskeletal physiology	6911	TBX6	OMIM:122600
HP:0011843	Abnormal musculoskeletal physiology	5888	RAD51	ORPHA:238722
HP:0011843	Abnormal musculoskeletal physiology	10126	DNAL4	ORPHA:238722
HP:0011843	Abnormal musculoskeletal physiology	9423	NTN1	ORPHA:238722
HP:0011843	Abnormal musculoskeletal physiology	1630	DCC	ORPHA:238722
HP:0011843	Abnormal musculoskeletal physiology	1108	CHD4	OMIM:617159
HP:0011843	Abnormal musculoskeletal physiology	55215	FANCI	OMIM:609053
HP:0011843	Abnormal musculoskeletal physiology	3557	IL1RN	OMIM:612852
HP:0011843	Abnormal musculoskeletal physiology	51729	WBP11	OMIM:619227
HP:0011843	Abnormal musculoskeletal physiology	6154	RPL26	OMIM:614900
HP:0011843	Abnormal musculoskeletal physiology	50945	TBX22	OMIM:302905
HP:0011843	Abnormal musculoskeletal physiology	50945	TBX22	ORPHA:921
HP:0011843	Abnormal musculoskeletal physiology	84065	TMEM222	OMIM:619470
HP:0011843	Abnormal musculoskeletal physiology	6628	SNRPB	OMIM:117650
HP:0011843	Abnormal musculoskeletal physiology	340419	RSPO2	OMIM:618022
HP:0011843	Abnormal musculoskeletal physiology	2137	EXTL3	ORPHA:508533
HP:0011843	Abnormal musculoskeletal physiology	56603	CYP26B1	OMIM:614416
HP:0011843	Abnormal musculoskeletal physiology	29980	DONSON	OMIM:251230
HP:0011843	Abnormal musculoskeletal physiology	3714	JAG2	OMIM:619566
HP:0011843	Abnormal musculoskeletal physiology	6335	SCN9A	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	6335	SCN9A	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	6326	SCN2A	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	6326	SCN2A	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	2554	GABRA1	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	6323	SCN1A	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	6323	SCN1A	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	6324	SCN1B	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	6324	SCN1B	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	57526	PCDH19	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	2566	GABRG2	ORPHA:33069
HP:0011843	Abnormal musculoskeletal physiology	2566	GABRG2	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	112755	STX1B	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	348980	HCN1	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	84059	ADGRV1	ORPHA:36387
HP:0011843	Abnormal musculoskeletal physiology	7476	WNT7A	OMIM:276820
HP:0011843	Abnormal musculoskeletal physiology	6904	TBCD	ORPHA:496641
HP:0011843	Abnormal musculoskeletal physiology	8878	SQSTM1	OMIM:167250
HP:0011843	Abnormal musculoskeletal physiology	8792	TNFRSF11A	OMIM:602080
HP:0011843	Abnormal musculoskeletal physiology	1186	CLCN7	OMIM:166600
HP:0011843	Abnormal musculoskeletal physiology	4976	OPA1	OMIM:210000
HP:0011843	Abnormal musculoskeletal physiology	215	ABCD1	ORPHA:139396
HP:0011843	Abnormal musculoskeletal physiology	11160	ERLIN2	ORPHA:280384
HP:0011843	Abnormal musculoskeletal physiology	29968	PSAT1	ORPHA:284417
HP:0011843	Abnormal musculoskeletal physiology	51102	MECR	OMIM:617282
HP:0011843	Abnormal musculoskeletal physiology	3074	HEXB	ORPHA:309162
HP:0011843	Abnormal musculoskeletal physiology	170302	ARX	OMIM:300004
HP:0011843	Abnormal musculoskeletal physiology	8506	CNTNAP1	OMIM:618186
HP:0011843	Abnormal musculoskeletal physiology	23516	SLC39A14	OMIM:617013
HP:0011843	Abnormal musculoskeletal physiology	57679	ALS2	OMIM:205100
HP:0011843	Abnormal musculoskeletal physiology	7170	TPM3	OMIM:255310
HP:0011843	Abnormal musculoskeletal physiology	2902	GRIN1	OMIM:619814
HP:0011843	Abnormal musculoskeletal physiology	55131	RBM28	OMIM:612079
HP:0011843	Abnormal musculoskeletal physiology	7355	SLC35A2	ORPHA:356961
HP:0011843	Abnormal musculoskeletal physiology	2157	F8	ORPHA:169802
HP:0011843	Abnormal musculoskeletal physiology	51091	SEPSECS	OMIM:613811
HP:0011843	Abnormal musculoskeletal physiology	819	CAMLG	OMIM:620201
HP:0011843	Abnormal musculoskeletal physiology	5277	PIGA	OMIM:301072
HP:0011843	Abnormal musculoskeletal physiology	55768	NGLY1	ORPHA:404454
HP:0011843	Abnormal musculoskeletal physiology	10269	ZMPSTE24	OMIM:275210
HP:0011843	Abnormal musculoskeletal physiology	59341	TRPV4	ORPHA:93314
HP:0011843	Abnormal musculoskeletal physiology	1308	COL17A1	ORPHA:251393
HP:0011843	Abnormal musculoskeletal physiology	3691	ITGB4	ORPHA:251393
HP:0011843	Abnormal musculoskeletal physiology	7138	TNNT1	OMIM:605355
HP:0011843	Abnormal musculoskeletal physiology	9653	HS2ST1	OMIM:619194
HP:0011843	Abnormal musculoskeletal physiology	10290	SPEG	ORPHA:169186
HP:0011843	Abnormal musculoskeletal physiology	10290	SPEG	OMIM:615959
HP:0011843	Abnormal musculoskeletal physiology	285175	UNC80	OMIM:616801
HP:0011843	Abnormal musculoskeletal physiology	285175	UNC80	ORPHA:371364
HP:0011843	Abnormal musculoskeletal physiology	84992	PIGY	OMIM:616809
HP:0011843	Abnormal musculoskeletal physiology	2617	GARS1	OMIM:619042
HP:0011843	Abnormal musculoskeletal physiology	23522	KAT6B	ORPHA:85201
HP:0011843	Abnormal musculoskeletal physiology	23522	KAT6B	OMIM:606170
HP:0011843	Abnormal musculoskeletal physiology	54681	P4HTM	OMIM:618493
HP:0011843	Abnormal musculoskeletal physiology	7547	ZIC3	OMIM:306955
HP:0011843	Abnormal musculoskeletal physiology	84667	HES7	OMIM:613686
HP:0011843	Abnormal musculoskeletal physiology	10992	SF3B2	OMIM:164210
HP:0011843	Abnormal musculoskeletal physiology	10683	DLL3	OMIM:277300
HP:0011843	Abnormal musculoskeletal physiology	145873	MESP2	OMIM:277300
HP:0011843	Abnormal musculoskeletal physiology	2099	ESR1	ORPHA:785
HP:0011843	Abnormal musculoskeletal physiology	89884	LHX4	OMIM:262700
HP:0011843	Abnormal musculoskeletal physiology	7021	TFAP2B	ORPHA:46627
HP:0011843	Abnormal musculoskeletal physiology	1280	COL2A1	ORPHA:485
HP:0011843	Abnormal musculoskeletal physiology	27125	AFF4	ORPHA:444077
HP:0011843	Abnormal musculoskeletal physiology	27125	AFF4	OMIM:616368
HP:0011843	Abnormal musculoskeletal physiology	55870	ASH1L	OMIM:617796
HP:0011843	Abnormal musculoskeletal physiology	1009	CDH11	OMIM:211380
HP:0011843	Abnormal musculoskeletal physiology	4358	MPV17	OMIM:256810
HP:0011843	Abnormal musculoskeletal physiology	4507	MTAP	OMIM:112250
HP:0011843	Abnormal musculoskeletal physiology	3209	HOXA13	ORPHA:2438
HP:0011843	Abnormal musculoskeletal physiology	7020	TFAP2A	OMIM:113620
HP:0011843	Abnormal musculoskeletal physiology	51082	POLR1D	OMIM:613717
HP:0011843	Abnormal musculoskeletal physiology	23389	MED13L	ORPHA:369891
HP:0011843	Abnormal musculoskeletal physiology	65055	REEP1	OMIM:620011
HP:0011843	Abnormal musculoskeletal physiology	5573	PRKAR1A	ORPHA:950
HP:0011843	Abnormal musculoskeletal physiology	5573	PRKAR1A	ORPHA:280651
HP:0011843	Abnormal musculoskeletal physiology	5573	PRKAR1A	OMIM:101800
HP:0011843	Abnormal musculoskeletal physiology	7840	ALMS1	ORPHA:64
HP:0011843	Abnormal musculoskeletal physiology	7840	ALMS1	OMIM:203800
HP:0011843	Abnormal musculoskeletal physiology	4158	MC2R	OMIM:202200
HP:0011843	Abnormal musculoskeletal physiology	26580	BSCL2	OMIM:269700
HP:0011843	Abnormal musculoskeletal physiology	26580	BSCL2	ORPHA:528
HP:0011843	Abnormal musculoskeletal physiology	2879	GPX4	ORPHA:93317
HP:0011843	Abnormal musculoskeletal physiology	3290	HSD11B1	OMIM:614662
HP:0011843	Abnormal musculoskeletal physiology	84282	RNF135	ORPHA:137634
HP:0011843	Abnormal musculoskeletal physiology	3643	INSR	ORPHA:2297
HP:0011843	Abnormal musculoskeletal physiology	5593	PRKG2	OMIM:619636
HP:0011843	Abnormal musculoskeletal physiology	1650	DDOST	OMIM:614507
HP:0011843	Abnormal musculoskeletal physiology	1650	DDOST	ORPHA:300536
HP:0011843	Abnormal musculoskeletal physiology	23169	SLC35D1	ORPHA:3144
HP:0011843	Abnormal musculoskeletal physiology	4784	NFIX	ORPHA:420179
HP:0011843	Abnormal musculoskeletal physiology	4784	NFIX	OMIM:614753
HP:0011843	Abnormal musculoskeletal physiology	4784	NFIX	OMIM:602535
HP:0011843	Abnormal musculoskeletal physiology	4784	NFIX	ORPHA:561
HP:0011843	Abnormal musculoskeletal physiology	7253	TSHR	ORPHA:424
HP:0011843	Abnormal musculoskeletal physiology	7253	TSHR	OMIM:609152
HP:0011843	Abnormal musculoskeletal physiology	1584	CYP11B1	OMIM:202010
HP:0011843	Abnormal musculoskeletal physiology	1584	CYP11B1	ORPHA:90795
HP:0011843	Abnormal musculoskeletal physiology	6942	TCF20	OMIM:618430
HP:0011843	Abnormal musculoskeletal physiology	3952	LEP	ORPHA:66628
HP:0011843	Abnormal musculoskeletal physiology	4221	MEN1	ORPHA:99725
HP:0011843	Abnormal musculoskeletal physiology	9049	AIP	ORPHA:99725
HP:0011843	Abnormal musculoskeletal physiology	3764	KCNJ8	ORPHA:1517
HP:0011843	Abnormal musculoskeletal physiology	55252	ASXL2	OMIM:617190
HP:0011843	Abnormal musculoskeletal physiology	2719	GPC3	ORPHA:373
HP:0011843	Abnormal musculoskeletal physiology	2719	GPC3	OMIM:312870
HP:0011843	Abnormal musculoskeletal physiology	1588	CYP19A1	OMIM:139300
HP:0011843	Abnormal musculoskeletal physiology	1028	CDKN1C	OMIM:130650
HP:0011843	Abnormal musculoskeletal physiology	10984	KCNQ1OT1	OMIM:130650
HP:0011843	Abnormal musculoskeletal physiology	3481	IGF2	OMIM:130650
HP:0011843	Abnormal musculoskeletal physiology	3784	KCNQ1	OMIM:130650
HP:0011843	Abnormal musculoskeletal physiology	3973	LHCGR	ORPHA:3000
HP:0011843	Abnormal musculoskeletal physiology	5468	PPARG	ORPHA:528
HP:0011843	Abnormal musculoskeletal physiology	10555	AGPAT2	ORPHA:528
HP:0011843	Abnormal musculoskeletal physiology	10555	AGPAT2	OMIM:608594
HP:0011843	Abnormal musculoskeletal physiology	2353	FOS	ORPHA:528
HP:0011843	Abnormal musculoskeletal physiology	1656	DDX6	OMIM:618653
HP:0011843	Abnormal musculoskeletal physiology	83550	GPR101	OMIM:300942
HP:0011843	Abnormal musculoskeletal physiology	7681	MKRN3	OMIM:615346
HP:0011843	Abnormal musculoskeletal physiology	3953	LEPR	ORPHA:179494
HP:0011843	Abnormal musculoskeletal physiology	55628	ZNF407	OMIM:619557
HP:0011843	Abnormal musculoskeletal physiology	23219	FBXO28	OMIM:619777
HP:0011843	Abnormal musculoskeletal physiology	1281	COL3A1	OMIM:130050
HP:0011843	Abnormal musculoskeletal physiology	89970	RSPRY1	ORPHA:457395
HP:0011843	Abnormal musculoskeletal physiology	23111	SPART	OMIM:275900
HP:0011843	Abnormal musculoskeletal physiology	6651	SON	ORPHA:500150
HP:0011843	Abnormal musculoskeletal physiology	57167	SALL4	ORPHA:233
HP:0011843	Abnormal musculoskeletal physiology	9935	MAFB	ORPHA:233
HP:0011843	Abnormal musculoskeletal physiology	1123	CHN1	ORPHA:233
HP:0011843	Abnormal musculoskeletal physiology	9573	GDF3	ORPHA:2345
HP:0011843	Abnormal musculoskeletal physiology	392255	GDF6	ORPHA:2345
HP:0011843	Abnormal musculoskeletal physiology	392255	GDF6	OMIM:118100
HP:0011843	Abnormal musculoskeletal physiology	4222	MEOX1	ORPHA:2345
HP:0011843	Abnormal musculoskeletal physiology	168667	BMPER	ORPHA:66637
HP:0011843	Abnormal musculoskeletal physiology	2316	FLNA	ORPHA:90650
HP:0011843	Abnormal musculoskeletal physiology	2316	FLNA	ORPHA:90652
HP:0011843	Abnormal musculoskeletal physiology	81839	VANGL1	ORPHA:3027
HP:0011843	Abnormal musculoskeletal physiology	80199	FUZ	ORPHA:3027
HP:0011843	Abnormal musculoskeletal physiology	3459	IFNGR1	OMIM:209950
HP:0011843	Abnormal musculoskeletal physiology	3459	IFNGR1	OMIM:615978
HP:0011843	Abnormal musculoskeletal physiology	3594	IL12RB1	ORPHA:319552
HP:0011843	Abnormal musculoskeletal physiology	3798	KIF5A	ORPHA:100991
HP:0011843	Abnormal musculoskeletal physiology	7528	YY1	ORPHA:506358
HP:0011843	Abnormal musculoskeletal physiology	7528	YY1	OMIM:617557
HP:0011843	Abnormal musculoskeletal physiology	34	ACADM	ORPHA:42
HP:0011843	Abnormal musculoskeletal physiology	4897	NRCAM	OMIM:619833
HP:0011843	Abnormal musculoskeletal physiology	4654	MYOD1	OMIM:618975
HP:0011843	Abnormal musculoskeletal physiology	7337	UBE3A	ORPHA:238446
HP:0011843	Abnormal musculoskeletal physiology	9871	SEC24D	ORPHA:2050
HP:0011843	Abnormal musculoskeletal physiology	5034	P4HB	ORPHA:2050
HP:0011843	Abnormal musculoskeletal physiology	23363	OBSL1	ORPHA:2616
HP:0011843	Abnormal musculoskeletal physiology	23118	TAB2	ORPHA:228410
HP:0011843	Abnormal musculoskeletal physiology	613	BCR	ORPHA:261330
HP:0011843	Abnormal musculoskeletal physiology	1399	CRKL	ORPHA:261330
HP:0011843	Abnormal musculoskeletal physiology	5744	PTHLH	ORPHA:93387
HP:0011843	Abnormal musculoskeletal physiology	51098	IFT52	ORPHA:1515
HP:0011843	Abnormal musculoskeletal physiology	51114	ZDHHC9	ORPHA:776
HP:0011843	Abnormal musculoskeletal physiology	65109	UPF3B	ORPHA:776
HP:0011843	Abnormal musculoskeletal physiology	137492	VPS37A	ORPHA:319199
HP:0011843	Abnormal musculoskeletal physiology	137492	VPS37A	OMIM:614898
HP:0011843	Abnormal musculoskeletal physiology	1312	COMT	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	221037	JMJD1C	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	2812	GP1BB	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	6239	RREB1	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	6899	TBX1	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	7290	HIRA	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	9632	SEC24C	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	7353	UFD1	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	421	ARVCF	ORPHA:567
HP:0011843	Abnormal musculoskeletal physiology	81620	CDT1	ORPHA:2554
HP:0011843	Abnormal musculoskeletal physiology	23594	ORC6	ORPHA:2554
HP:0011843	Abnormal musculoskeletal physiology	990	CDC6	ORPHA:2554
HP:0011843	Abnormal musculoskeletal physiology	51053	GMNN	ORPHA:2554
HP:0011843	Abnormal musculoskeletal physiology	1501	CTNND2	ORPHA:281
HP:0011843	Abnormal musculoskeletal physiology	9037	SEMA5A	ORPHA:281
HP:0011843	Abnormal musculoskeletal physiology	5062	PAK2	ORPHA:1571
HP:0011843	Abnormal musculoskeletal physiology	64132	XYLT2	ORPHA:85194
HP:0011843	Abnormal musculoskeletal physiology	3981	LIG4	ORPHA:235
HP:0011843	Abnormal musculoskeletal physiology	54888	NSUN2	ORPHA:235
HP:0011843	Abnormal musculoskeletal physiology	6928	HNF1B	ORPHA:93111
HP:0011843	Abnormal musculoskeletal physiology	8936	WASF1	OMIM:618707
HP:0011843	Abnormal musculoskeletal physiology	545	ATR	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	1062	CENPE	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	5932	RBBP8	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	79902	NUP85	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	84126	ATRIP	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	55835	CENPJ	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	10293	TRAIP	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	22995	CEP152	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	10733	PLK4	ORPHA:808
HP:0011843	Abnormal musculoskeletal physiology	22800	RRAS2	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	8216	LZTR1	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	6016	RIT1	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	6237	RRAS	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	5894	RAF1	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	22808	MRAS	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	4893	NRAS	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	6654	SOS1	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	6655	SOS2	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	5781	PTPN11	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	5922	RASA2	ORPHA:648
HP:0011843	Abnormal musculoskeletal physiology	84295	PHF6	ORPHA:127
HP:0011843	Abnormal musculoskeletal physiology	1297	COL9A1	ORPHA:250984
HP:0011843	Abnormal musculoskeletal physiology	84695	LOXL3	ORPHA:250984
HP:0011843	Abnormal musculoskeletal physiology	5167	ENPP1	ORPHA:758
HP:0011843	Abnormal musculoskeletal physiology	368	ABCC6	ORPHA:758
HP:0011843	Abnormal musculoskeletal physiology	55898	UNC45A	OMIM:619377
HP:0011843	Abnormal musculoskeletal physiology	26277	TINF2	OMIM:613990
HP:0011843	Abnormal musculoskeletal physiology	9652	SKIC3	OMIM:222470
HP:0011843	Abnormal musculoskeletal physiology	1857	DVL3	ORPHA:3107
HP:0011843	Abnormal musculoskeletal physiology	2535	FZD2	ORPHA:3107
HP:0011843	Abnormal musculoskeletal physiology	9719	ADAMTSL2	ORPHA:1901
HP:0011843	Abnormal musculoskeletal physiology	9509	ADAMTS2	ORPHA:1901
HP:0011843	Abnormal musculoskeletal physiology	7227	TRPS1	ORPHA:502
HP:0011843	Abnormal musculoskeletal physiology	7227	TRPS1	OMIM:190350
HP:0011843	Abnormal musculoskeletal physiology	7227	TRPS1	OMIM:190351
HP:0011843	Abnormal musculoskeletal physiology	7227	TRPS1	ORPHA:77258
HP:0011843	Abnormal musculoskeletal physiology	55325	UFSP2	OMIM:142669
HP:0011843	Abnormal musculoskeletal physiology	11277	TREX1	ORPHA:247691
HP:0011843	Abnormal musculoskeletal physiology	10847	SRCAP	ORPHA:2044
HP:0011843	Abnormal musculoskeletal physiology	51763	INPP5K	ORPHA:559
HP:0011843	Abnormal musculoskeletal physiology	1277	COL1A1	ORPHA:1899
HP:0011843	Abnormal musculoskeletal physiology	84340	GFM2	ORPHA:565624
HP:0011843	Abnormal musculoskeletal physiology	55906	ZC4H2	ORPHA:3454
HP:0011843	Abnormal musculoskeletal physiology	55906	ZC4H2	OMIM:314580
HP:0011843	Abnormal musculoskeletal physiology	60386	SLC25A19	OMIM:613710
HP:0011843	Abnormal musculoskeletal physiology	2521	FUS	ORPHA:300605
HP:0011843	Abnormal musculoskeletal physiology	80208	SPG11	ORPHA:300605
HP:0011843	Abnormal musculoskeletal physiology	10280	SIGMAR1	ORPHA:300605
HP:0011843	Abnormal musculoskeletal physiology	10558	SPTLC1	ORPHA:300605
HP:0011843	Abnormal musculoskeletal physiology	80232	WDR26	ORPHA:513456
HP:0011843	Abnormal musculoskeletal physiology	6134	RPL10	ORPHA:459070
HP:0011843	Abnormal musculoskeletal physiology	3767	KCNJ11	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	6774	STAT3	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	2645	GCK	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	3651	PDX1	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	6833	ABCC8	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	3630	INS	ORPHA:99885
HP:0011843	Abnormal musculoskeletal physiology	8818	DPM2	ORPHA:329178
HP:0011843	Abnormal musculoskeletal physiology	1193	CLIC2	ORPHA:324410
HP:0011843	Abnormal musculoskeletal physiology	5830	PEX5	OMIM:616716
HP:0011843	Abnormal musculoskeletal physiology	23556	PIGN	ORPHA:280633
HP:0011843	Abnormal musculoskeletal physiology	23102	TBC1D2B	OMIM:619323
HP:0011843	Abnormal musculoskeletal physiology	80152	CENPT	OMIM:618702
HP:0011843	Abnormal musculoskeletal physiology	7474	WNT5A	OMIM:180700
HP:0011843	Abnormal musculoskeletal physiology	1855	DVL1	OMIM:180700
HP:0011843	Abnormal musculoskeletal physiology	23299	BICD2	ORPHA:363454
HP:0011843	Abnormal musculoskeletal physiology	79879	CCDC134	OMIM:619795
HP:0011843	Abnormal musculoskeletal physiology	10491	CRTAP	OMIM:610682
HP:0011843	Abnormal musculoskeletal physiology	23184	MESD	OMIM:618644
HP:0011843	Abnormal musculoskeletal physiology	5479	PPIB	OMIM:259440
HP:0011843	Abnormal musculoskeletal physiology	8823	FGF16	OMIM:309630
HP:0011843	Abnormal musculoskeletal physiology	3239	HOXD13	OMIM:186300
HP:0011843	Abnormal musculoskeletal physiology	64093	SMOC1	OMIM:206920
HP:0011843	Abnormal musculoskeletal physiology	9775	EIF4A3	OMIM:268305
HP:0011843	Abnormal musculoskeletal physiology	118429	ANTXR2	ORPHA:2028
HP:0011843	Abnormal musculoskeletal physiology	118429	ANTXR2	OMIM:228600
HP:0011843	Abnormal musculoskeletal physiology	2643	GCH1	ORPHA:98808
HP:0011843	Abnormal musculoskeletal physiology	4929	NR4A2	ORPHA:98808
HP:0011843	Abnormal musculoskeletal physiology	3615	IMPDH2	ORPHA:98808
HP:0011843	Abnormal musculoskeletal physiology	6857	SYT1	ORPHA:522077
HP:0011843	Abnormal musculoskeletal physiology	157570	ESCO2	ORPHA:3103
HP:0011843	Abnormal musculoskeletal physiology	51305	KCNK9	ORPHA:166108
HP:0011843	Abnormal musculoskeletal physiology	1303	COL12A1	ORPHA:536516
HP:0011843	Abnormal musculoskeletal physiology	22880	MORC2	ORPHA:466768
HP:0011843	Abnormal musculoskeletal physiology	825	CAPN3	ORPHA:267
HP:0011843	Abnormal musculoskeletal physiology	2201	FBN2	OMIM:121050
HP:0011843	Abnormal musculoskeletal physiology	63895	PIEZO2	ORPHA:1154
HP:0011843	Abnormal musculoskeletal physiology	63895	PIEZO2	OMIM:108145
HP:0011843	Abnormal musculoskeletal physiology	10216	PRG4	OMIM:208250
HP:0011843	Abnormal musculoskeletal physiology	113179	ADAT3	ORPHA:363528
HP:0011843	Abnormal musculoskeletal physiology	7043	TGFB3	OMIM:615582
HP:0011843	Abnormal musculoskeletal physiology	9241	NOG	ORPHA:3250
HP:0011843	Abnormal musculoskeletal physiology	9241	NOG	OMIM:185800
HP:0011843	Abnormal musculoskeletal physiology	8200	GDF5	ORPHA:3250
HP:0011843	Abnormal musculoskeletal physiology	2737	GLI3	ORPHA:93322
HP:0011843	Abnormal musculoskeletal physiology	5447	POR	ORPHA:95699
HP:0011843	Abnormal musculoskeletal physiology	4621	MYH3	OMIM:193700
HP:0011843	Abnormal musculoskeletal physiology	1292	COL6A2	OMIM:255600
HP:0011843	Abnormal musculoskeletal physiology	22861	NLRP1	OMIM:615225
HP:0011843	Abnormal musculoskeletal physiology	9987	HNRNPDL	OMIM:609115
HP:0011843	Abnormal musculoskeletal physiology	8292	COLQ	ORPHA:98915
HP:0011843	Abnormal musculoskeletal physiology	3913	LAMB2	ORPHA:98915
HP:0011843	Abnormal musculoskeletal physiology	23141	ANKLE2	OMIM:616681
HP:0011843	Abnormal musculoskeletal physiology	51506	UFC1	OMIM:618076
HP:0011843	Abnormal musculoskeletal physiology	23321	TRIM2	OMIM:615490
HP:0011843	Abnormal musculoskeletal physiology	9531	BAG3	OMIM:612954
HP:0011843	Abnormal musculoskeletal physiology	10613	ERLIN1	ORPHA:401785
HP:0011843	Abnormal musculoskeletal physiology	2222	FDFT1	OMIM:618156
HP:0011843	Abnormal musculoskeletal physiology	1376	CPT2	OMIM:608836
HP:0011843	Abnormal musculoskeletal physiology	5296	PIK3R2	OMIM:603387
HP:0011843	Abnormal musculoskeletal physiology	6392	SDHD	ORPHA:3208
HP:0011843	Abnormal musculoskeletal physiology	644096	SDHAF1	ORPHA:3208
HP:0011843	Abnormal musculoskeletal physiology	7415	VCP	ORPHA:435387
HP:0011843	Abnormal musculoskeletal physiology	2318	FLNC	ORPHA:63273
HP:0011843	Abnormal musculoskeletal physiology	4091	SMAD6	OMIM:179300
HP:0011843	Abnormal musculoskeletal physiology	10584	COLEC10	ORPHA:293843
HP:0011843	Abnormal musculoskeletal physiology	5648	MASP1	ORPHA:293843
HP:0011843	Abnormal musculoskeletal physiology	2122	MECOM	OMIM:616738
HP:0011843	Abnormal musculoskeletal physiology	3207	HOXA11	OMIM:605432
HP:0011843	Abnormal musculoskeletal physiology	1859	DYRK1A	ORPHA:464311
HP:0011843	Abnormal musculoskeletal physiology	1605	DAG1	OMIM:613818
HP:0011843	Abnormal musculoskeletal physiology	1605	DAG1	ORPHA:280333
HP:0011843	Abnormal musculoskeletal physiology	6840	SVIL	OMIM:619040
HP:0011843	Abnormal musculoskeletal physiology	55958	KLHL9	ORPHA:399081
HP:0011843	Abnormal musculoskeletal physiology	83636	C19orf12	OMIM:615043
HP:0011843	Abnormal musculoskeletal physiology	84876	ORAI1	OMIM:615883
HP:0011843	Abnormal musculoskeletal physiology	6509	SLC1A4	OMIM:616657
HP:0011843	Abnormal musculoskeletal physiology	4773	NFATC2	OMIM:620232
HP:0011843	Abnormal musculoskeletal physiology	87178	PNPT1	ORPHA:319514
HP:0011843	Abnormal musculoskeletal physiology	210	ALAD	ORPHA:100924
HP:0011843	Abnormal musculoskeletal physiology	513	ATP5F1D	OMIM:618120
HP:0011843	Abnormal musculoskeletal physiology	57731	SPTBN4	OMIM:617519
HP:0011843	Abnormal musculoskeletal physiology	497661	C18orf32	OMIM:619985
HP:0011843	Abnormal musculoskeletal physiology	7407	VARS1	OMIM:617802
HP:0011843	Abnormal musculoskeletal physiology	9896	FIG4	OMIM:611228
HP:0011843	Abnormal musculoskeletal physiology	9401	RECQL4	OMIM:218600
HP:0011843	Abnormal musculoskeletal physiology	6812	STXBP1	ORPHA:495818
HP:0011843	Abnormal musculoskeletal physiology	145258	GSC	OMIM:602471
HP:0011843	Abnormal musculoskeletal physiology	8600	TNFSF11	OMIM:259710
HP:0011843	Abnormal musculoskeletal physiology	2972	BRF1	ORPHA:444072
HP:0011843	Abnormal musculoskeletal physiology	23259	DDHD2	ORPHA:320380
HP:0011843	Abnormal musculoskeletal physiology	54828	BCAS3	OMIM:619641
HP:0011843	Abnormal musculoskeletal physiology	51651	PTRH2	ORPHA:456312
HP:0011843	Abnormal musculoskeletal physiology	79932	KIAA0319L	ORPHA:220402
HP:0011843	Abnormal musculoskeletal physiology	8195	MKKS	ORPHA:2473
HP:0011843	Abnormal musculoskeletal physiology	8481	OFD1	ORPHA:2750
HP:0011843	Abnormal musculoskeletal physiology	5745	PTH1R	ORPHA:79106
HP:0011843	Abnormal musculoskeletal physiology	2131	EXT1	ORPHA:321
HP:0011843	Abnormal musculoskeletal physiology	2132	EXT2	ORPHA:321
HP:0011843	Abnormal musculoskeletal physiology	8291	DYSF	ORPHA:268
HP:0011843	Abnormal musculoskeletal physiology	4000	LMNA	ORPHA:740
HP:0011843	Abnormal musculoskeletal physiology	7273	TTN	ORPHA:178464
HP:0011843	Abnormal musculoskeletal physiology	4625	MYH7	ORPHA:437572
HP:0011843	Abnormal musculoskeletal physiology	1311	COMP	OMIM:132400
HP:0011843	Abnormal musculoskeletal physiology	123606	NIPA1	ORPHA:100988
HP:0011843	Abnormal musculoskeletal physiology	10082	GPC6	OMIM:258315
HP:0011843	Abnormal musculoskeletal physiology	3081	HGD	OMIM:203500
HP:0011843	Abnormal musculoskeletal physiology	4148	MATN3	ORPHA:93311
HP:0011843	Abnormal musculoskeletal physiology	10664	CTCF	ORPHA:363611
HP:0011843	Abnormal musculoskeletal physiology	219854	TMEM218	OMIM:619562
HP:0011843	Abnormal musculoskeletal physiology	23291	FBXW11	OMIM:618914
HP:0011843	Abnormal musculoskeletal physiology	9757	KMT2B	OMIM:619934
HP:0011843	Abnormal musculoskeletal physiology	10765	KDM5B	OMIM:618109
HP:0011843	Abnormal musculoskeletal physiology	10093	ARPC4	OMIM:620141
HP:0011843	Abnormal musculoskeletal physiology	6909	TBX2	OMIM:618223
HP:0011843	Abnormal musculoskeletal physiology	80816	ASXL3	OMIM:615485
HP:0011843	Abnormal musculoskeletal physiology	81857	MED25	ORPHA:464738
HP:0011843	Abnormal musculoskeletal physiology	57449	PLEKHG5	OMIM:611067
HP:0011843	Abnormal musculoskeletal physiology	5376	PMP22	ORPHA:90658
HP:0011843	Abnormal musculoskeletal physiology	8985	PLOD3	OMIM:612394
HP:0011843	Abnormal musculoskeletal physiology	64682	ANAPC1	ORPHA:221008
HP:0011843	Abnormal musculoskeletal physiology	4038	LRP4	OMIM:212780
HP:0011843	Abnormal musculoskeletal physiology	7291	TWIST1	ORPHA:35099
HP:0011843	Abnormal musculoskeletal physiology	7545	ZIC1	ORPHA:35099
HP:0011843	Abnormal musculoskeletal physiology	9939	RBM8A	OMIM:274000
HP:0011843	Abnormal musculoskeletal physiology	22856	CHSY1	OMIM:605282
HP:0011843	Abnormal musculoskeletal physiology	2192	FBLN1	OMIM:608180
HP:0011843	Abnormal musculoskeletal physiology	7428	VHL	ORPHA:892
HP:0011843	Abnormal musculoskeletal physiology	595	CCND1	ORPHA:892
HP:0011843	Abnormal musculoskeletal physiology	8575	PRKRA	OMIM:612067
HP:0011843	Abnormal musculoskeletal physiology	1371	CPOX	ORPHA:79273
HP:0011843	Abnormal musculoskeletal physiology	3145	HMBS	ORPHA:79276
HP:0011843	Abnormal musculoskeletal physiology	25923	ATL3	ORPHA:36386
HP:0011843	Abnormal musculoskeletal physiology	9517	SPTLC2	ORPHA:36386
HP:0011843	Abnormal musculoskeletal physiology	51062	ATL1	ORPHA:36386
HP:0011843	Abnormal musculoskeletal physiology	23261	CAMTA1	OMIM:614756
HP:0011843	Abnormal musculoskeletal physiology	4948	OCA2	ORPHA:98794
HP:0011843	Abnormal musculoskeletal physiology	3043	HBB	ORPHA:232
HP:0011843	Abnormal musculoskeletal physiology	84196	USP48	ORPHA:96253
HP:0011843	Abnormal musculoskeletal physiology	7157	TP53	ORPHA:96253
HP:0011843	Abnormal musculoskeletal physiology	9101	USP8	ORPHA:96253
HP:0011843	Abnormal musculoskeletal physiology	64072	CDH23	ORPHA:96253
HP:0011843	Abnormal musculoskeletal physiology	2908	NR3C1	ORPHA:96253
HP:0011843	Abnormal musculoskeletal physiology	8518	ELP1	ORPHA:1764
HP:0011843	Abnormal musculoskeletal physiology	4914	NTRK1	ORPHA:642
HP:0011843	Abnormal musculoskeletal physiology	80169	CTC1	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	55651	NHP2	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	55135	WRAP53	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	51750	RTEL1	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	4869	NPM1	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	7012	TERC	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	55505	NOP10	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	5073	PARN	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	7015	TERT	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	7015	TERT	OMIM:613989
HP:0011843	Abnormal musculoskeletal physiology	1736	DKC1	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	7298	TYMS	ORPHA:1775
HP:0011843	Abnormal musculoskeletal physiology	950	SCARB2	ORPHA:77259
HP:0011843	Abnormal musculoskeletal physiology	149233	IL23R	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	1230	CCR1	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	355	FAS	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	3592	IL12A	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	101928376	IL12A-AS1	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	7099	TLR4	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	720	C4A	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	337867	UBAC2	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	51752	ERAP1	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	8302	KLRC4	ORPHA:117
HP:0011843	Abnormal musculoskeletal physiology	3008	H1-4	OMIM:617537
HP:0011843	Abnormal musculoskeletal physiology	84942	WDR73	OMIM:251300
HP:0011843	Abnormal musculoskeletal physiology	9382	COG1	OMIM:611209
HP:0011843	Abnormal musculoskeletal physiology	57231	SNX14	ORPHA:397709
HP:0011843	Abnormal musculoskeletal physiology	57231	SNX14	OMIM:616354
HP:0011843	Abnormal musculoskeletal physiology	56992	KIF15	ORPHA:261323
HP:0011843	Abnormal musculoskeletal physiology	57589	RIC1	OMIM:618761
HP:0011843	Abnormal musculoskeletal physiology	1272	CNTN1	OMIM:612540
HP:0011843	Abnormal musculoskeletal physiology	64359	NXN	OMIM:618529
HP:0011843	Abnormal musculoskeletal physiology	80776	B9D2	OMIM:614175
HP:0011843	Abnormal musculoskeletal physiology	1954	MEGF8	OMIM:614976
HP:0011843	Abnormal musculoskeletal physiology	79053	ALG8	OMIM:608104
HP:0011843	Abnormal musculoskeletal physiology	79053	ALG8	ORPHA:79325
HP:0011843	Abnormal musculoskeletal physiology	26227	PHGDH	OMIM:256520
HP:0011843	Abnormal musculoskeletal physiology	8260	NAA10	OMIM:309800
HP:0011843	Abnormal musculoskeletal physiology	1001	CDH3	OMIM:225280
HP:0011843	Abnormal musculoskeletal physiology	79228	THOC6	ORPHA:363444
HP:0011843	Abnormal musculoskeletal physiology	8626	TP63	OMIM:603543
HP:0011843	Abnormal musculoskeletal physiology	8813	DPM1	OMIM:608799
HP:0011843	Abnormal musculoskeletal physiology	8813	DPM1	ORPHA:79322
HP:0011843	Abnormal musculoskeletal physiology	147372	CCBE1	OMIM:235510
HP:0011843	Abnormal musculoskeletal physiology	79087	ALG12	ORPHA:79324
HP:0011843	Abnormal musculoskeletal physiology	257	ALX3	OMIM:136760
HP:0011843	Abnormal musculoskeletal physiology	26100	WIPI2	OMIM:618453
HP:0011843	Abnormal musculoskeletal physiology	9427	ECEL1	OMIM:615065
HP:0011843	Abnormal musculoskeletal physiology	1801	DPH1	ORPHA:459061
HP:0011843	Abnormal musculoskeletal physiology	81848	SPRY4	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	128674	PROKR2	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	60675	PROK2	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	55636	CHD7	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	6870	TACR3	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	1848	DUSP6	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	26012	NSMF	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	55717	WDR11	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	9394	HS6ST1	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	2796	GNRH1	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	2798	GNRHR	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	84634	KISS1R	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	6866	TAC3	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	8822	FGF17	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	3814	KISS1	ORPHA:432
HP:0011843	Abnormal musculoskeletal physiology	9158	FIBP	ORPHA:500095
HP:0011843	Abnormal musculoskeletal physiology	55315	SLC29A3	OMIM:602782
HP:0011843	Abnormal musculoskeletal physiology	55315	SLC29A3	ORPHA:168569
HP:0011843	Abnormal musculoskeletal physiology	117581	TWIST2	OMIM:200110
HP:0011843	Abnormal musculoskeletal physiology	84162	BLTP1	OMIM:617822
HP:0011843	Abnormal musculoskeletal physiology	28982	FLVCR1	ORPHA:88628
HP:0011843	Abnormal musculoskeletal physiology	28982	FLVCR1	OMIM:609033
HP:0011843	Abnormal musculoskeletal physiology	56915	EXOSC5	OMIM:619576
HP:0011843	Abnormal musculoskeletal physiology	92255	LMBRD2	OMIM:619694
HP:0011843	Abnormal musculoskeletal physiology	23511	NUP188	OMIM:618804
HP:0011843	Abnormal musculoskeletal physiology	10943	MSL3	OMIM:301032
HP:0011843	Abnormal musculoskeletal physiology	55644	OSGEP	OMIM:617729
HP:0011843	Abnormal musculoskeletal physiology	55975	KLHL7	OMIM:617055
HP:0011843	Abnormal musculoskeletal physiology	4927	NUP88	OMIM:618393
HP:0011843	Abnormal musculoskeletal physiology	51715	RAB23	OMIM:201000
HP:0011843	Abnormal musculoskeletal physiology	28952	CCDC22	OMIM:300963
HP:0011843	Abnormal musculoskeletal physiology	90416	CCDC32	OMIM:619123
HP:0011843	Abnormal musculoskeletal physiology	139285	AMER1	OMIM:300373
HP:0011843	Abnormal musculoskeletal physiology	10084	PQBP1	OMIM:309500
HP:0011843	Abnormal musculoskeletal physiology	9487	PIGL	OMIM:280000
HP:0011843	Abnormal musculoskeletal physiology	3868	KRT16	ORPHA:2199
HP:0011843	Abnormal musculoskeletal physiology	3857	KRT9	ORPHA:2199
HP:0011843	Abnormal musculoskeletal physiology	6913	TBX15	OMIM:260660
HP:0011843	Abnormal musculoskeletal physiology	2036	EPB41L1	OMIM:614257
HP:0011843	Abnormal musculoskeletal physiology	523	ATP6V1A	OMIM:617403
HP:0011843	Abnormal musculoskeletal physiology	4233	MET	OMIM:620019
HP:0011843	Abnormal musculoskeletal physiology	2313	FLI1	ORPHA:370348
HP:0011843	Abnormal musculoskeletal physiology	5654	HTRA1	ORPHA:199354
HP:0011843	Abnormal musculoskeletal physiology	4311	MME	OMIM:617018
HP:0011843	Abnormal musculoskeletal physiology	4508	MT-ATP6	ORPHA:320360
HP:0011843	Abnormal musculoskeletal physiology	5921	RASA1	ORPHA:90307
HP:0011843	Abnormal musculoskeletal physiology	4566	MT-TK	ORPHA:1349
HP:0011843	Abnormal musculoskeletal physiology	84188	FAR1	ORPHA:447753
HP:0011843	Abnormal musculoskeletal physiology	6687	SPG7	ORPHA:99013
HP:0011843	Abnormal musculoskeletal physiology	91662	NLRP12	OMIM:611762
HP:0011843	Abnormal musculoskeletal physiology	3872	KRT17	ORPHA:2309
HP:0011843	Abnormal musculoskeletal physiology	3853	KRT6A	ORPHA:2309
HP:0011843	Abnormal musculoskeletal physiology	3854	KRT6B	ORPHA:2309
HP:0011843	Abnormal musculoskeletal physiology	54	ACP5	ORPHA:1855
HP:0011843	Abnormal musculoskeletal physiology	1298	COL9A2	OMIM:600204
HP:0011843	Abnormal musculoskeletal physiology	9927	MFN2	ORPHA:99947
HP:0011843	Abnormal musculoskeletal physiology	3852	KRT5	ORPHA:79400
HP:0011843	Abnormal musculoskeletal physiology	3861	KRT14	ORPHA:79400
HP:0011843	Abnormal musculoskeletal physiology	91754	NEK9	OMIM:617022
HP:0011843	Abnormal musculoskeletal physiology	4722	NDUFS3	OMIM:618230
HP:0011843	Abnormal musculoskeletal physiology	22943	DKK1	ORPHA:268882
HP:0011843	Abnormal musculoskeletal physiology	54820	NDE1	ORPHA:2177
HP:0011843	Abnormal musculoskeletal physiology	6926	TBX3	OMIM:181450
HP:0011843	Abnormal musculoskeletal physiology	26040	SETBP1	ORPHA:798
HP:0011843	Abnormal musculoskeletal physiology	8398	PLA2G6	ORPHA:199351
HP:0011843	Abnormal musculoskeletal physiology	6399	TRAPPC2	ORPHA:93284
HP:0011843	Abnormal musculoskeletal physiology	1836	SLC26A2	ORPHA:93307
HP:0011843	Abnormal musculoskeletal physiology	64065	PERP	OMIM:619208
HP:0011843	Abnormal musculoskeletal physiology	10804	GJB6	ORPHA:477
HP:0011843	Abnormal musculoskeletal physiology	2706	GJB2	ORPHA:477
HP:0011843	Abnormal musculoskeletal physiology	567	B2M	ORPHA:314652
HP:0011843	Abnormal musculoskeletal physiology	3373	HYAL1	OMIM:601492
HP:0011843	Abnormal musculoskeletal physiology	2773	GNAI3	OMIM:602483
HP:0011843	Abnormal musculoskeletal physiology	64423	INF2	OMIM:614455
HP:0011843	Abnormal musculoskeletal physiology	10397	NDRG1	OMIM:601455
HP:0011843	Abnormal musculoskeletal physiology	3315	HSPB1	OMIM:606595
HP:0011843	Abnormal musculoskeletal physiology	8566	PDXK	OMIM:618511
HP:0011843	Abnormal musculoskeletal physiology	3098	HK1	OMIM:605285
HP:0011843	Abnormal musculoskeletal physiology	23387	SIK3	OMIM:618162
HP:0011843	Abnormal musculoskeletal physiology	57038	RARS2	OMIM:611523
HP:0011843	Abnormal musculoskeletal physiology	79147	FKRP	OMIM:606612
HP:0011843	Abnormal musculoskeletal physiology	79644	SRD5A3	OMIM:612713
HP:0011843	Abnormal musculoskeletal physiology	26092	TOR1AIP1	OMIM:617072
HP:0011843	Abnormal musculoskeletal physiology	11340	EXOSC8	OMIM:616081
HP:0011843	Abnormal musculoskeletal physiology	80347	COASY	OMIM:618266
HP:0011843	Abnormal musculoskeletal physiology	197258	FCSK	OMIM:618324
HP:0011843	Abnormal musculoskeletal physiology	2530	FUT8	OMIM:618005
HP:0011843	Abnormal musculoskeletal physiology	11019	LIAS	OMIM:614462
HP:0011843	Abnormal musculoskeletal physiology	54892	NCAPG2	OMIM:618460
HP:0011843	Abnormal musculoskeletal physiology	51501	HIKESHI	OMIM:616881
HP:0011843	Abnormal musculoskeletal physiology	9255	AIMP1	OMIM:260600
HP:0011843	Abnormal musculoskeletal physiology	56270	WDR45B	OMIM:617977
HP:0011843	Abnormal musculoskeletal physiology	5111	PCNA	OMIM:615919
HP:0011843	Abnormal musculoskeletal physiology	5424	POLD1	OMIM:615381
HP:0011843	Abnormal musculoskeletal physiology	58497	PRUNE1	OMIM:617481
HP:0011843	Abnormal musculoskeletal physiology	65993	MRPS34	OMIM:617664
HP:0011843	Abnormal musculoskeletal physiology	55331	ACER3	OMIM:617762
HP:0011843	Abnormal musculoskeletal physiology	55640	FLVCR2	OMIM:225790
HP:0011843	Abnormal musculoskeletal physiology	2893	GRIA4	OMIM:617864
HP:0011843	Abnormal musculoskeletal physiology	221927	BRAT1	OMIM:614498
HP:0011843	Abnormal musculoskeletal physiology	6785	ELOVL4	OMIM:614457
HP:0011843	Abnormal musculoskeletal physiology	23534	TNPO3	OMIM:608423
HP:0011843	Abnormal musculoskeletal physiology	374393	FAM111B	OMIM:615704
HP:0011843	Abnormal musculoskeletal physiology	4210	MEFV	ORPHA:329967
HP:0011843	Abnormal musculoskeletal physiology	7132	TNFRSF1A	ORPHA:329967
HP:0011843	Abnormal musculoskeletal physiology	5528	PPP2R5D	ORPHA:457279
HP:0011843	Abnormal musculoskeletal physiology	84466	MEGF10	OMIM:614399
HP:0011843	Abnormal musculoskeletal physiology	3508	IGHMBP2	OMIM:604320
HP:0011843	Abnormal musculoskeletal physiology	2697	GJA1	ORPHA:2710
HP:0011843	Abnormal musculoskeletal physiology	2697	GJA1	ORPHA:93404
HP:0011843	Abnormal musculoskeletal physiology	56006	SMG9	OMIM:616920
HP:0011843	Abnormal musculoskeletal physiology	9508	ADAMTS3	ORPHA:2136
HP:0011843	Abnormal musculoskeletal physiology	5189	PEX1	ORPHA:3220
HP:0011843	Abnormal musculoskeletal physiology	5190	PEX6	ORPHA:3220
HP:0011843	Abnormal musculoskeletal physiology	8517	IKBKG	ORPHA:464
HP:0011843	Abnormal musculoskeletal physiology	1723	DHODH	ORPHA:246
HP:0011843	Abnormal musculoskeletal physiology	10466	COG5	ORPHA:263487
HP:0011843	Abnormal musculoskeletal physiology	114548	NLRP3	ORPHA:575
HP:0011843	Abnormal musculoskeletal physiology	134701	RIPPLY2	ORPHA:2311
HP:0011843	Abnormal musculoskeletal physiology	3955	LFNG	ORPHA:2311
HP:0011843	Abnormal musculoskeletal physiology	7846	TUBA1A	ORPHA:994
HP:0011843	Abnormal musculoskeletal physiology	285489	DOK7	ORPHA:994
HP:0011843	Abnormal musculoskeletal physiology	3914	LAMB3	OMIM:226650
HP:0011843	Abnormal musculoskeletal physiology	9150	CTDP1	ORPHA:48431
HP:0011843	Abnormal musculoskeletal physiology	8092	ALX1	ORPHA:306542
HP:0011843	Abnormal musculoskeletal physiology	23443	SLC35A3	OMIM:615553
HP:0011843	Abnormal musculoskeletal physiology	51002	TPRKB	ORPHA:2065
HP:0011843	Abnormal musculoskeletal physiology	57122	NUP107	ORPHA:2065
HP:0011843	Abnormal musculoskeletal physiology	55746	NUP133	ORPHA:2065
HP:0011843	Abnormal musculoskeletal physiology	112858	TP53RK	ORPHA:2065
HP:0011843	Abnormal musculoskeletal physiology	8270	LAGE3	ORPHA:2065
HP:0011843	Abnormal musculoskeletal physiology	56916	SMARCAD1	ORPHA:1658
HP:0011844	Abnormal appendicular skeleton morphology	4591	TRIM37	OMIM:253250
HP:0011844	Abnormal appendicular skeleton morphology	4854	NOTCH3	ORPHA:2591
HP:0011844	Abnormal appendicular skeleton morphology	3418	IDH2	ORPHA:296
HP:0011844	Abnormal appendicular skeleton morphology	10617	STAMBP	OMIM:614261
HP:0011844	Abnormal appendicular skeleton morphology	28981	IFT81	OMIM:617895
HP:0011844	Abnormal appendicular skeleton morphology	392255	GDF6	OMIM:617898
HP:0011844	Abnormal appendicular skeleton morphology	5238	PGM3	ORPHA:443811
HP:0011844	Abnormal appendicular skeleton morphology	55733	HHAT	OMIM:600092
HP:0011844	Abnormal appendicular skeleton morphology	9786	KIAA0586	ORPHA:397715
HP:0011844	Abnormal appendicular skeleton morphology	114803	MYSM1	ORPHA:508542
HP:0011844	Abnormal appendicular skeleton morphology	149775	GNAS-AS1	OMIM:603233
HP:0011844	Abnormal appendicular skeleton morphology	8675	STX16	OMIM:603233
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	OMIM:603233
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	ORPHA:79443
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	ORPHA:79444
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	ORPHA:79445
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	OMIM:612463
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	OMIM:612462
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	ORPHA:2762
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS	OMIM:103580
HP:0011844	Abnormal appendicular skeleton morphology	10026	PIGK	OMIM:618879
HP:0011844	Abnormal appendicular skeleton morphology	28960	DCPS	OMIM:616459
HP:0011844	Abnormal appendicular skeleton morphology	57231	SNX14	ORPHA:397709
HP:0011844	Abnormal appendicular skeleton morphology	57231	SNX14	OMIM:616354
HP:0011844	Abnormal appendicular skeleton morphology	1513	CTSK	OMIM:265800
HP:0011844	Abnormal appendicular skeleton morphology	1513	CTSK	ORPHA:763
HP:0011844	Abnormal appendicular skeleton morphology	818	CAMK2G	OMIM:618522
HP:0011844	Abnormal appendicular skeleton morphology	54453	RIN2	OMIM:613075
HP:0011844	Abnormal appendicular skeleton morphology	54453	RIN2	ORPHA:217335
HP:0011844	Abnormal appendicular skeleton morphology	170691	ADAMTS17	OMIM:613195
HP:0011844	Abnormal appendicular skeleton morphology	9469	CHST3	OMIM:143095
HP:0011844	Abnormal appendicular skeleton morphology	9469	CHST3	ORPHA:263463
HP:0011844	Abnormal appendicular skeleton morphology	7994	KAT6A	ORPHA:457193
HP:0011844	Abnormal appendicular skeleton morphology	7994	KAT6A	OMIM:616268
HP:0011844	Abnormal appendicular skeleton morphology	84100	ARL6	OMIM:209900
HP:0011844	Abnormal appendicular skeleton morphology	84100	ARL6	OMIM:600151
HP:0011844	Abnormal appendicular skeleton morphology	79140	CCDC28B	OMIM:209900
HP:0011844	Abnormal appendicular skeleton morphology	582	BBS1	OMIM:209900
HP:0011844	Abnormal appendicular skeleton morphology	8036	SHOC2	ORPHA:2701
HP:0011844	Abnormal appendicular skeleton morphology	5500	PPP1CB	ORPHA:2701
HP:0011844	Abnormal appendicular skeleton morphology	63901	FAM111A	OMIM:602361
HP:0011844	Abnormal appendicular skeleton morphology	81794	ADAMTS10	OMIM:277600
HP:0011844	Abnormal appendicular skeleton morphology	81794	ADAMTS10	ORPHA:3449
HP:0011844	Abnormal appendicular skeleton morphology	153241	CEP120	ORPHA:474
HP:0011844	Abnormal appendicular skeleton morphology	51626	DYNC2LI1	ORPHA:474
HP:0011844	Abnormal appendicular skeleton morphology	51626	DYNC2LI1	OMIM:617088
HP:0011844	Abnormal appendicular skeleton morphology	79809	TTC21B	ORPHA:474
HP:0011844	Abnormal appendicular skeleton morphology	79809	TTC21B	OMIM:613819
HP:0011844	Abnormal appendicular skeleton morphology	8493	PPM1D	OMIM:617450
HP:0011844	Abnormal appendicular skeleton morphology	56006	SMG9	OMIM:619995
HP:0011844	Abnormal appendicular skeleton morphology	23126	POGZ	OMIM:616364
HP:0011844	Abnormal appendicular skeleton morphology	27125	AFF4	OMIM:616368
HP:0011844	Abnormal appendicular skeleton morphology	27125	AFF4	ORPHA:444077
HP:0011844	Abnormal appendicular skeleton morphology	4247	MGAT2	ORPHA:79329
HP:0011844	Abnormal appendicular skeleton morphology	8314	BAP1	OMIM:619762
HP:0011844	Abnormal appendicular skeleton morphology	54928	BPNT2	OMIM:614078
HP:0011844	Abnormal appendicular skeleton morphology	3930	LBR	OMIM:215140
HP:0011844	Abnormal appendicular skeleton morphology	3930	LBR	OMIM:618019
HP:0011844	Abnormal appendicular skeleton morphology	3930	LBR	ORPHA:1426
HP:0011844	Abnormal appendicular skeleton morphology	4488	MSX2	OMIM:604757
HP:0011844	Abnormal appendicular skeleton morphology	5727	PTCH1	ORPHA:377
HP:0011844	Abnormal appendicular skeleton morphology	5727	PTCH1	OMIM:109400
HP:0011844	Abnormal appendicular skeleton morphology	8643	PTCH2	ORPHA:377
HP:0011844	Abnormal appendicular skeleton morphology	51684	SUFU	ORPHA:377
HP:0011844	Abnormal appendicular skeleton morphology	6603	SMARCD2	OMIM:617475
HP:0011844	Abnormal appendicular skeleton morphology	23219	FBXO28	OMIM:619777
HP:0011844	Abnormal appendicular skeleton morphology	51322	WAC	ORPHA:466950
HP:0011844	Abnormal appendicular skeleton morphology	29929	ALG6	ORPHA:79320
HP:0011844	Abnormal appendicular skeleton morphology	79053	ALG8	ORPHA:79325
HP:0011844	Abnormal appendicular skeleton morphology	257	ALX3	OMIM:136760
HP:0011844	Abnormal appendicular skeleton morphology	257	ALX3	ORPHA:391474
HP:0011844	Abnormal appendicular skeleton morphology	2623	GATA1	OMIM:190685
HP:0011844	Abnormal appendicular skeleton morphology	176	ACAN	OMIM:612813
HP:0011844	Abnormal appendicular skeleton morphology	176	ACAN	ORPHA:171866
HP:0011844	Abnormal appendicular skeleton morphology	176	ACAN	ORPHA:435804
HP:0011844	Abnormal appendicular skeleton morphology	176	ACAN	OMIM:165800
HP:0011844	Abnormal appendicular skeleton morphology	51114	ZDHHC9	ORPHA:776
HP:0011844	Abnormal appendicular skeleton morphology	65109	UPF3B	ORPHA:776
HP:0011844	Abnormal appendicular skeleton morphology	79068	FTO	OMIM:612938
HP:0011844	Abnormal appendicular skeleton morphology	56975	FAM20C	OMIM:259775
HP:0011844	Abnormal appendicular skeleton morphology	55249	YY1AP1	OMIM:602531
HP:0011844	Abnormal appendicular skeleton morphology	10940	POP1	OMIM:617396
HP:0011844	Abnormal appendicular skeleton morphology	51132	RLIM	OMIM:300978
HP:0011844	Abnormal appendicular skeleton morphology	4141	MARS1	OMIM:619692
HP:0011844	Abnormal appendicular skeleton morphology	1621	DBH	OMIM:223360
HP:0011844	Abnormal appendicular skeleton morphology	2316	FLNA	ORPHA:88630
HP:0011844	Abnormal appendicular skeleton morphology	2316	FLNA	OMIM:300244
HP:0011844	Abnormal appendicular skeleton morphology	5077	PAX3	OMIM:148820
HP:0011844	Abnormal appendicular skeleton morphology	10483	SEC23B	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	6390	SDHB	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	6392	SDHD	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	6391	SDHC	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	205717	USF3	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	5290	PIK3CA	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	100144748	KLLN	ORPHA:201
HP:0011844	Abnormal appendicular skeleton morphology	633	BGN	OMIM:300989
HP:0011844	Abnormal appendicular skeleton morphology	633	BGN	OMIM:300106
HP:0011844	Abnormal appendicular skeleton morphology	7403	KDM6A	OMIM:300867
HP:0011844	Abnormal appendicular skeleton morphology	5144	PDE4D	ORPHA:439822
HP:0011844	Abnormal appendicular skeleton morphology	5144	PDE4D	ORPHA:950
HP:0011844	Abnormal appendicular skeleton morphology	5144	PDE4D	OMIM:614613
HP:0011844	Abnormal appendicular skeleton morphology	5144	PDE4D	ORPHA:280651
HP:0011844	Abnormal appendicular skeleton morphology	6023	RMRP	OMIM:607095
HP:0011844	Abnormal appendicular skeleton morphology	5573	PRKAR1A	OMIM:101800
HP:0011844	Abnormal appendicular skeleton morphology	5573	PRKAR1A	ORPHA:950
HP:0011844	Abnormal appendicular skeleton morphology	5573	PRKAR1A	ORPHA:280651
HP:0011844	Abnormal appendicular skeleton morphology	64374	SIL1	ORPHA:559
HP:0011844	Abnormal appendicular skeleton morphology	51763	INPP5K	ORPHA:559
HP:0011844	Abnormal appendicular skeleton morphology	9851	KIAA0753	OMIM:619479
HP:0011844	Abnormal appendicular skeleton morphology	9851	KIAA0753	ORPHA:2754
HP:0011844	Abnormal appendicular skeleton morphology	5530	PPP3CA	OMIM:618265
HP:0011844	Abnormal appendicular skeleton morphology	10283	CWC27	OMIM:250410
HP:0011844	Abnormal appendicular skeleton morphology	10283	CWC27	ORPHA:166035
HP:0011844	Abnormal appendicular skeleton morphology	6513	SLC2A1	ORPHA:168577
HP:0011844	Abnormal appendicular skeleton morphology	9060	PAPSS2	OMIM:612847
HP:0011844	Abnormal appendicular skeleton morphology	4796	TONSL	OMIM:271510
HP:0011844	Abnormal appendicular skeleton morphology	4796	TONSL	ORPHA:93357
HP:0011844	Abnormal appendicular skeleton morphology	2131	EXT1	ORPHA:502
HP:0011844	Abnormal appendicular skeleton morphology	8720	MBTPS1	OMIM:618392
HP:0011844	Abnormal appendicular skeleton morphology	2077	ERF	OMIM:617180
HP:0011844	Abnormal appendicular skeleton morphology	5130	PCYT1A	ORPHA:85167
HP:0011844	Abnormal appendicular skeleton morphology	5130	PCYT1A	OMIM:608940
HP:0011844	Abnormal appendicular skeleton morphology	23169	SLC35D1	OMIM:269250
HP:0011844	Abnormal appendicular skeleton morphology	407975	MIR17HG	ORPHA:391646
HP:0011844	Abnormal appendicular skeleton morphology	5295	PIK3R1	ORPHA:3163
HP:0011844	Abnormal appendicular skeleton morphology	51371	POMP	OMIM:618048
HP:0011844	Abnormal appendicular skeleton morphology	57152	SLURP1	OMIM:248300
HP:0011844	Abnormal appendicular skeleton morphology	51594	NBAS	OMIM:614800
HP:0011844	Abnormal appendicular skeleton morphology	4000	LMNA	ORPHA:168796
HP:0011844	Abnormal appendicular skeleton morphology	4000	LMNA	OMIM:610140
HP:0011844	Abnormal appendicular skeleton morphology	9897	WASHC5	ORPHA:7
HP:0011844	Abnormal appendicular skeleton morphology	11011	TLK2	OMIM:618050
HP:0011844	Abnormal appendicular skeleton morphology	51109	RDH11	ORPHA:436245
HP:0011844	Abnormal appendicular skeleton morphology	25886	POC1A	OMIM:614813
HP:0011844	Abnormal appendicular skeleton morphology	4053	LTBP2	OMIM:614819
HP:0011844	Abnormal appendicular skeleton morphology	4053	LTBP2	ORPHA:3449
HP:0011844	Abnormal appendicular skeleton morphology	2690	GHR	ORPHA:633
HP:0011844	Abnormal appendicular skeleton morphology	9131	AIFM1	OMIM:300232
HP:0011844	Abnormal appendicular skeleton morphology	118429	ANTXR2	ORPHA:2176
HP:0011844	Abnormal appendicular skeleton morphology	5447	POR	ORPHA:95699
HP:0011844	Abnormal appendicular skeleton morphology	22858	CILK1	OMIM:612651
HP:0011844	Abnormal appendicular skeleton morphology	26153	KIF26A	OMIM:620156
HP:0011844	Abnormal appendicular skeleton morphology	56992	KIF15	ORPHA:261323
HP:0011844	Abnormal appendicular skeleton morphology	8289	ARID1A	OMIM:614607
HP:0011844	Abnormal appendicular skeleton morphology	4054	LTBP3	ORPHA:969
HP:0011844	Abnormal appendicular skeleton morphology	4054	LTBP3	OMIM:617809
HP:0011844	Abnormal appendicular skeleton morphology	222663	SCUBE3	OMIM:619184
HP:0011844	Abnormal appendicular skeleton morphology	6885	MAP3K7	OMIM:157800
HP:0011844	Abnormal appendicular skeleton morphology	6885	MAP3K7	ORPHA:3238
HP:0011844	Abnormal appendicular skeleton morphology	51021	MRPS16	OMIM:610498
HP:0011844	Abnormal appendicular skeleton morphology	4853	NOTCH2	ORPHA:955
HP:0011844	Abnormal appendicular skeleton morphology	2254	FGF9	ORPHA:3237
HP:0011844	Abnormal appendicular skeleton morphology	55343	SLC35C1	OMIM:266265
HP:0011844	Abnormal appendicular skeleton morphology	9321	TRIP11	OMIM:184260
HP:0011844	Abnormal appendicular skeleton morphology	5159	PDGFRB	OMIM:601812
HP:0011844	Abnormal appendicular skeleton morphology	5139	PDE3A	ORPHA:1276
HP:0011844	Abnormal appendicular skeleton morphology	7048	TGFBR2	OMIM:610168
HP:0011844	Abnormal appendicular skeleton morphology	8195	MKKS	ORPHA:2473
HP:0011844	Abnormal appendicular skeleton morphology	4882	NPR2	ORPHA:40
HP:0011844	Abnormal appendicular skeleton morphology	50945	TBX22	ORPHA:921
HP:0011844	Abnormal appendicular skeleton morphology	585	BBS4	OMIM:615982
HP:0011844	Abnormal appendicular skeleton morphology	129880	BBS5	OMIM:615983
HP:0011844	Abnormal appendicular skeleton morphology	27241	BBS9	OMIM:615986
HP:0011844	Abnormal appendicular skeleton morphology	196528	ARID2	OMIM:617808
HP:0011844	Abnormal appendicular skeleton morphology	55081	IFT57	OMIM:617927
HP:0011844	Abnormal appendicular skeleton morphology	6938	TCF12	ORPHA:35099
HP:0011844	Abnormal appendicular skeleton morphology	6938	TCF12	OMIM:615314
HP:0011844	Abnormal appendicular skeleton morphology	7545	ZIC1	ORPHA:35099
HP:0011844	Abnormal appendicular skeleton morphology	92482	BBIP1	OMIM:615995
HP:0011844	Abnormal appendicular skeleton morphology	5053	PAH	ORPHA:2209
HP:0011844	Abnormal appendicular skeleton morphology	101929726	MYMX	ORPHA:1358
HP:0011844	Abnormal appendicular skeleton morphology	114548	NLRP3	ORPHA:1451
HP:0011844	Abnormal appendicular skeleton morphology	9419	CRIPT	OMIM:615789
HP:0011844	Abnormal appendicular skeleton morphology	9361	LONP1	ORPHA:1458
HP:0011844	Abnormal appendicular skeleton morphology	8092	ALX1	ORPHA:306542
HP:0011844	Abnormal appendicular skeleton morphology	54361	WNT4	ORPHA:247768
HP:0011844	Abnormal appendicular skeleton morphology	55617	TASP1	OMIM:618950
HP:0011844	Abnormal appendicular skeleton morphology	5744	PTHLH	OMIM:613382
HP:0011844	Abnormal appendicular skeleton morphology	113246	C12orf57	OMIM:218340
HP:0011844	Abnormal appendicular skeleton morphology	5331	PLCB3	OMIM:618961
HP:0011844	Abnormal appendicular skeleton morphology	387	RHOA	OMIM:618727
HP:0011844	Abnormal appendicular skeleton morphology	10210	TOPORS	ORPHA:2754
HP:0011844	Abnormal appendicular skeleton morphology	317662	FAM149B1	ORPHA:2754
HP:0011844	Abnormal appendicular skeleton morphology	23404	EXOSC2	OMIM:617763
HP:0011844	Abnormal appendicular skeleton morphology	406932	MIR140	OMIM:618618
HP:0011844	Abnormal appendicular skeleton morphology	25871	NEPRO	OMIM:618853
HP:0011844	Abnormal appendicular skeleton morphology	255758	DYNLT2B	OMIM:617405
HP:0011844	Abnormal appendicular skeleton morphology	5604	MAP2K1	OMIM:163950
HP:0011844	Abnormal appendicular skeleton morphology	50964	SOST	OMIM:269500
HP:0011844	Abnormal appendicular skeleton morphology	84529	CDIN1	OMIM:615631
HP:0011844	Abnormal appendicular skeleton morphology	7681	MKRN3	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	3653	IPW	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	791114	PWRN1	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	100033413	SNORD116-1	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	8924	HERC2	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	145624	PWAR1	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	23742	NPAP1	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	338433	SNORD115-1	OMIM:176270
HP:0011844	Abnormal appendicular skeleton morphology	1723	DHODH	OMIM:263750
HP:0011844	Abnormal appendicular skeleton morphology	4552	MTRR	ORPHA:2169
HP:0011844	Abnormal appendicular skeleton morphology	2192	FBLN1	ORPHA:404451
HP:0011844	Abnormal appendicular skeleton morphology	8913	CACNA1G	OMIM:618087
HP:0011844	Abnormal appendicular skeleton morphology	23389	MED13L	ORPHA:369891
HP:0011844	Abnormal appendicular skeleton morphology	8550	MAPKAPK5	OMIM:619869
HP:0011844	Abnormal appendicular skeleton morphology	29957	SLC25A24	OMIM:612289
HP:0011844	Abnormal appendicular skeleton morphology	4659	PPP1R12A	OMIM:618820
HP:0011844	Abnormal appendicular skeleton morphology	6305	SBF1	OMIM:615284
HP:0011844	Abnormal appendicular skeleton morphology	57688	ZSWIM6	OMIM:603671
HP:0011844	Abnormal appendicular skeleton morphology	79989	IFT56	OMIM:619534
HP:0011844	Abnormal appendicular skeleton morphology	775	CACNA1C	OMIM:618447
HP:0011844	Abnormal appendicular skeleton morphology	8831	SYNGAP1	ORPHA:1942
HP:0011844	Abnormal appendicular skeleton morphology	1173	AP2M1	ORPHA:1942
HP:0011844	Abnormal appendicular skeleton morphology	6323	SCN1A	ORPHA:1942
HP:0011844	Abnormal appendicular skeleton morphology	1106	CHD2	ORPHA:1942
HP:0011844	Abnormal appendicular skeleton morphology	6529	SLC6A1	ORPHA:1942
HP:0011844	Abnormal appendicular skeleton morphology	3914	LAMB3	OMIM:226700
HP:0011844	Abnormal appendicular skeleton morphology	3909	LAMA3	OMIM:226700
HP:0011844	Abnormal appendicular skeleton morphology	3918	LAMC2	OMIM:226700
HP:0011844	Abnormal appendicular skeleton morphology	54101	RIPK4	OMIM:263650
HP:0011844	Abnormal appendicular skeleton morphology	92935	MARS2	OMIM:616430
HP:0011844	Abnormal appendicular skeleton morphology	146059	CDAN1	OMIM:224120
HP:0011844	Abnormal appendicular skeleton morphology	4038	LRP4	OMIM:212780
HP:0011844	Abnormal appendicular skeleton morphology	54806	AHI1	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	54806	AHI1	ORPHA:220493
HP:0011844	Abnormal appendicular skeleton morphology	200894	ARL13B	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	9731	CEP104	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	23247	KATNIP	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	219854	TMEM218	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	95681	CEP41	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	95681	CEP41	ORPHA:220493
HP:0011844	Abnormal appendicular skeleton morphology	10464	PIBF1	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	23116	TOGARAM1	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	25776	CBY1	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	403	ARL3	ORPHA:475
HP:0011844	Abnormal appendicular skeleton morphology	5626	PROP1	ORPHA:226307
HP:0011844	Abnormal appendicular skeleton morphology	89884	LHX4	ORPHA:226307
HP:0011844	Abnormal appendicular skeleton morphology	8022	LHX3	ORPHA:226307
HP:0011844	Abnormal appendicular skeleton morphology	5449	POU1F1	ORPHA:226307
HP:0011844	Abnormal appendicular skeleton morphology	8820	HESX1	ORPHA:226307
HP:0011844	Abnormal appendicular skeleton morphology	51	ACOX1	ORPHA:2971
HP:0011844	Abnormal appendicular skeleton morphology	7547	ZIC3	OMIM:314390
HP:0011844	Abnormal appendicular skeleton morphology	26154	ABCA12	ORPHA:457
HP:0011844	Abnormal appendicular skeleton morphology	8241	RBM10	ORPHA:2886
HP:0011844	Abnormal appendicular skeleton morphology	51524	TMEM138	ORPHA:2318
HP:0011844	Abnormal appendicular skeleton morphology	23090	ZNF423	ORPHA:2318
HP:0011844	Abnormal appendicular skeleton morphology	5566	PRKACA	ORPHA:289
HP:0011844	Abnormal appendicular skeleton morphology	2313	FLI1	ORPHA:2308
HP:0011844	Abnormal appendicular skeleton morphology	6309	SC5D	ORPHA:46059
HP:0011844	Abnormal appendicular skeleton morphology	6309	SC5D	OMIM:607330
HP:0011844	Abnormal appendicular skeleton morphology	894	CCND2	ORPHA:83473
HP:0011844	Abnormal appendicular skeleton morphology	894	CCND2	OMIM:615938
HP:0011844	Abnormal appendicular skeleton morphology	5296	PIK3R2	ORPHA:83473
HP:0011844	Abnormal appendicular skeleton morphology	10000	AKT3	ORPHA:83473
HP:0011844	Abnormal appendicular skeleton morphology	10000	AKT3	OMIM:615937
HP:0011844	Abnormal appendicular skeleton morphology	56623	INPP5E	OMIM:213300
HP:0011844	Abnormal appendicular skeleton morphology	56623	INPP5E	ORPHA:1454
HP:0011844	Abnormal appendicular skeleton morphology	55593	OTUD5	OMIM:301056
HP:0011844	Abnormal appendicular skeleton morphology	83479	DDX59	OMIM:174300
HP:0011844	Abnormal appendicular skeleton morphology	83479	DDX59	ORPHA:2919
HP:0011844	Abnormal appendicular skeleton morphology	285600	KIAA0825	OMIM:618498
HP:0011844	Abnormal appendicular skeleton morphology	26005	C2CD3	OMIM:615948
HP:0011844	Abnormal appendicular skeleton morphology	26005	C2CD3	ORPHA:434179
HP:0011844	Abnormal appendicular skeleton morphology	26040	SETBP1	OMIM:269150
HP:0011844	Abnormal appendicular skeleton morphology	11020	IFT27	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	49855	SCAPER	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	4867	NPHP1	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	84984	CEP19	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	22954	TRIM32	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	79738	BBS10	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	123016	TTC8	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	583	BBS2	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	583	BBS2	OMIM:615981
HP:0011844	Abnormal appendicular skeleton morphology	166379	BBS12	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	166379	BBS12	OMIM:615989
HP:0011844	Abnormal appendicular skeleton morphology	10806	SDCCAG8	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	157657	CFAP418	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	157657	CFAP418	OMIM:617406
HP:0011844	Abnormal appendicular skeleton morphology	80173	IFT74	ORPHA:110
HP:0011844	Abnormal appendicular skeleton morphology	79005	SCNM1	OMIM:620107
HP:0011844	Abnormal appendicular skeleton morphology	2736	GLI2	OMIM:610829
HP:0011844	Abnormal appendicular skeleton morphology	51360	MBTPS2	OMIM:308205
HP:0011844	Abnormal appendicular skeleton morphology	51360	MBTPS2	ORPHA:85284
HP:0011844	Abnormal appendicular skeleton morphology	80210	ARMC9	OMIM:617622
HP:0011844	Abnormal appendicular skeleton morphology	23288	IQCE	OMIM:617642
HP:0011844	Abnormal appendicular skeleton morphology	137392	CIBAR1	OMIM:618219
HP:0011844	Abnormal appendicular skeleton morphology	7700	ZNF141	OMIM:615226
HP:0011844	Abnormal appendicular skeleton morphology	4088	SMAD3	ORPHA:284984
HP:0011844	Abnormal appendicular skeleton morphology	4088	SMAD3	OMIM:613795
HP:0011844	Abnormal appendicular skeleton morphology	4088	SMAD3	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	875	CBS	ORPHA:394
HP:0011844	Abnormal appendicular skeleton morphology	875	CBS	OMIM:236200
HP:0011844	Abnormal appendicular skeleton morphology	25970	SH2B1	ORPHA:261222
HP:0011844	Abnormal appendicular skeleton morphology	199857	ALG14	OMIM:619036
HP:0011844	Abnormal appendicular skeleton morphology	8925	HERC1	OMIM:617011
HP:0011844	Abnormal appendicular skeleton morphology	8925	HERC1	ORPHA:457359
HP:0011844	Abnormal appendicular skeleton morphology	1075	CTSC	OMIM:245010
HP:0011844	Abnormal appendicular skeleton morphology	1075	CTSC	ORPHA:678
HP:0011844	Abnormal appendicular skeleton morphology	5351	PLOD1	OMIM:225400
HP:0011844	Abnormal appendicular skeleton morphology	8076	MFAP5	OMIM:616166
HP:0011844	Abnormal appendicular skeleton morphology	8076	MFAP5	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	80816	ASXL3	OMIM:615485
HP:0011844	Abnormal appendicular skeleton morphology	80816	ASXL3	ORPHA:352577
HP:0011844	Abnormal appendicular skeleton morphology	72	ACTG2	ORPHA:2604
HP:0011844	Abnormal appendicular skeleton morphology	30008	EFEMP2	OMIM:614437
HP:0011844	Abnormal appendicular skeleton morphology	79693	YRDC	OMIM:619609
HP:0011844	Abnormal appendicular skeleton morphology	1146	CHRNG	OMIM:265000
HP:0011844	Abnormal appendicular skeleton morphology	284058	KANSL1	ORPHA:363958
HP:0011844	Abnormal appendicular skeleton morphology	284058	KANSL1	ORPHA:363965
HP:0011844	Abnormal appendicular skeleton morphology	1272	CNTN1	OMIM:612540
HP:0011844	Abnormal appendicular skeleton morphology	29920	PYCR2	ORPHA:481152
HP:0011844	Abnormal appendicular skeleton morphology	29920	PYCR2	OMIM:616420
HP:0011844	Abnormal appendicular skeleton morphology	1312	COMT	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	221037	JMJD1C	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	2812	GP1BB	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	6239	RREB1	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	7290	HIRA	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	9632	SEC24C	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	7353	UFD1	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	421	ARVCF	ORPHA:567
HP:0011844	Abnormal appendicular skeleton morphology	444	ASPH	OMIM:601552
HP:0011844	Abnormal appendicular skeleton morphology	79576	NKAP	OMIM:301039
HP:0011844	Abnormal appendicular skeleton morphology	3188	HNRNPH2	OMIM:300986
HP:0011844	Abnormal appendicular skeleton morphology	23152	CIC	OMIM:617600
HP:0011844	Abnormal appendicular skeleton morphology	649	BMP1	OMIM:614856
HP:0011844	Abnormal appendicular skeleton morphology	165	AEBP1	ORPHA:536532
HP:0011844	Abnormal appendicular skeleton morphology	11285	B4GALT7	ORPHA:75496
HP:0011844	Abnormal appendicular skeleton morphology	11285	B4GALT7	OMIM:130070
HP:0011844	Abnormal appendicular skeleton morphology	10526	IPO8	OMIM:619472
HP:0011844	Abnormal appendicular skeleton morphology	10526	IPO8	ORPHA:60030
HP:0011844	Abnormal appendicular skeleton morphology	4534	MTM1	OMIM:310400
HP:0011844	Abnormal appendicular skeleton morphology	5184	PEPD	ORPHA:742
HP:0011844	Abnormal appendicular skeleton morphology	715	C1R	OMIM:130080
HP:0011844	Abnormal appendicular skeleton morphology	60676	PAPPA2	OMIM:619489
HP:0011844	Abnormal appendicular skeleton morphology	1742	DLG4	OMIM:618793
HP:0011844	Abnormal appendicular skeleton morphology	6605	SMARCE1	OMIM:616938
HP:0011844	Abnormal appendicular skeleton morphology	11107	PRDM5	ORPHA:90354
HP:0011844	Abnormal appendicular skeleton morphology	84627	ZNF469	ORPHA:90354
HP:0011844	Abnormal appendicular skeleton morphology	4677	NARS1	OMIM:619092
HP:0011844	Abnormal appendicular skeleton morphology	6651	SON	ORPHA:500150
HP:0011844	Abnormal appendicular skeleton morphology	2193	FARSA	OMIM:619013
HP:0011844	Abnormal appendicular skeleton morphology	4087	SMAD2	OMIM:619656
HP:0011844	Abnormal appendicular skeleton morphology	4087	SMAD2	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	29893	PSMC3IP	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	171568	POLR3H	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	2516	NR5A1	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	125150	ZSWIM7	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	9210	BMP15	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	23514	SPIDR	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	2492	FSHR	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	56945	MRPS22	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	646	BNC1	ORPHA:243
HP:0011844	Abnormal appendicular skeleton morphology	4883	NPR3	OMIM:619543
HP:0011844	Abnormal appendicular skeleton morphology	7043	TGFB3	OMIM:615582
HP:0011844	Abnormal appendicular skeleton morphology	7043	TGFB3	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	7046	TGFBR1	ORPHA:60030
HP:0011844	Abnormal appendicular skeleton morphology	7046	TGFBR1	OMIM:609192
HP:0011844	Abnormal appendicular skeleton morphology	7046	TGFBR1	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	56603	CYP26B1	OMIM:614416
HP:0011844	Abnormal appendicular skeleton morphology	7042	TGFB2	OMIM:614816
HP:0011844	Abnormal appendicular skeleton morphology	7042	TGFB2	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	4629	MYH11	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	4015	LOX	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	59	ACTA2	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	5592	PRKG1	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	2301	FOXE3	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	4144	MAT2A	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	23493	HEY2	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	4638	MYLK	ORPHA:91387
HP:0011844	Abnormal appendicular skeleton morphology	1593	CYP27A1	ORPHA:909
HP:0011844	Abnormal appendicular skeleton morphology	23400	ATP13A2	ORPHA:306674
HP:0011844	Abnormal appendicular skeleton morphology	134218	DNAJC21	ORPHA:811
HP:0011844	Abnormal appendicular skeleton morphology	79631	EFL1	ORPHA:811
HP:0011844	Abnormal appendicular skeleton morphology	51119	SBDS	ORPHA:811
HP:0011844	Abnormal appendicular skeleton morphology	6729	SRP54	ORPHA:811
HP:0011844	Abnormal appendicular skeleton morphology	6926	TBX3	ORPHA:3138
HP:0011844	Abnormal appendicular skeleton morphology	64840	PORCN	OMIM:305600
HP:0011844	Abnormal appendicular skeleton morphology	64840	PORCN	ORPHA:2092
HP:0011844	Abnormal appendicular skeleton morphology	5376	PMP22	OMIM:118300
HP:0011844	Abnormal appendicular skeleton morphology	5376	PMP22	OMIM:118220
HP:0011844	Abnormal appendicular skeleton morphology	5376	PMP22	ORPHA:90658
HP:0011844	Abnormal appendicular skeleton morphology	5376	PMP22	OMIM:145900
HP:0011844	Abnormal appendicular skeleton morphology	6910	TBX5	ORPHA:392
HP:0011844	Abnormal appendicular skeleton morphology	22880	MORC2	OMIM:616688
HP:0011844	Abnormal appendicular skeleton morphology	1001	CDH3	OMIM:225280
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	OMIM:604292
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	OMIM:103285
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	OMIM:603543
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	OMIM:605289
HP:0011844	Abnormal appendicular skeleton morphology	8626	TP63	ORPHA:1896
HP:0011844	Abnormal appendicular skeleton morphology	4047	LSS	ORPHA:2850
HP:0011844	Abnormal appendicular skeleton morphology	197	AHSG	ORPHA:2850
HP:0011844	Abnormal appendicular skeleton morphology	3694	ITGB6	ORPHA:2850
HP:0011844	Abnormal appendicular skeleton morphology	79581	SLC52A2	OMIM:614707
HP:0011844	Abnormal appendicular skeleton morphology	411	ARSB	OMIM:253200
HP:0011844	Abnormal appendicular skeleton morphology	9150	CTDP1	OMIM:604168
HP:0011844	Abnormal appendicular skeleton morphology	54332	GDAP1	OMIM:607831
HP:0011844	Abnormal appendicular skeleton morphology	54332	GDAP1	ORPHA:101097
HP:0011844	Abnormal appendicular skeleton morphology	56704	JPH1	OMIM:607831
HP:0011844	Abnormal appendicular skeleton morphology	51776	MAP3K20	OMIM:616890
HP:0011844	Abnormal appendicular skeleton morphology	1750	DLX6	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	7979	SEM1	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	8945	BTRC	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	58513	EPS15L1	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	6468	FBXW4	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	7480	WNT10B	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	7480	WNT10B	OMIM:225300
HP:0011844	Abnormal appendicular skeleton morphology	1749	DLX5	ORPHA:2440
HP:0011844	Abnormal appendicular skeleton morphology	1749	DLX5	OMIM:183600
HP:0011844	Abnormal appendicular skeleton morphology	1749	DLX5	OMIM:220600
HP:0011844	Abnormal appendicular skeleton morphology	1717	DHCR7	ORPHA:818
HP:0011844	Abnormal appendicular skeleton morphology	81846	SBF2	OMIM:604563
HP:0011844	Abnormal appendicular skeleton morphology	79158	GNPTAB	OMIM:252500
HP:0011844	Abnormal appendicular skeleton morphology	79158	GNPTAB	OMIM:252600
HP:0011844	Abnormal appendicular skeleton morphology	3516	RBPJ	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	4851	NOTCH1	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	57514	ARHGAP31	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	57572	DOCK6	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	285203	EOGT	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	54567	DLL4	ORPHA:974
HP:0011844	Abnormal appendicular skeleton morphology	8888	MCM3AP	OMIM:618124
HP:0011844	Abnormal appendicular skeleton morphology	4359	MPZ	OMIM:118200
HP:0011844	Abnormal appendicular skeleton morphology	4359	MPZ	OMIM:145900
HP:0011844	Abnormal appendicular skeleton morphology	3423	IDS	OMIM:309900
HP:0011844	Abnormal appendicular skeleton morphology	3664	IRF6	ORPHA:1300
HP:0011844	Abnormal appendicular skeleton morphology	374969	SVBP	OMIM:618569
HP:0011844	Abnormal appendicular skeleton morphology	3295	HSD17B4	OMIM:261515
HP:0011844	Abnormal appendicular skeleton morphology	7476	WNT7A	OMIM:276820
HP:0011844	Abnormal appendicular skeleton morphology	1509	CTSD	OMIM:610127
HP:0011844	Abnormal appendicular skeleton morphology	64359	NXN	ORPHA:1507
HP:0011844	Abnormal appendicular skeleton morphology	4920	ROR2	ORPHA:1507
HP:0011844	Abnormal appendicular skeleton morphology	26580	BSCL2	OMIM:270685
HP:0011844	Abnormal appendicular skeleton morphology	26580	BSCL2	ORPHA:100998
HP:0011844	Abnormal appendicular skeleton morphology	4313	MMP2	OMIM:259600
HP:0011844	Abnormal appendicular skeleton morphology	2260	FGFR1	ORPHA:2117
HP:0011844	Abnormal appendicular skeleton morphology	10397	NDRG1	ORPHA:99950
HP:0011844	Abnormal appendicular skeleton morphology	4747	NEFL	OMIM:617882
HP:0011844	Abnormal appendicular skeleton morphology	1959	EGR2	OMIM:145900
HP:0011844	Abnormal appendicular skeleton morphology	57716	PRX	OMIM:145900
HP:0011844	Abnormal appendicular skeleton morphology	2189	FANCG	OMIM:614082
HP:0011844	Abnormal appendicular skeleton morphology	2189	FANCG	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	80207	OPA3	ORPHA:67036
HP:0011844	Abnormal appendicular skeleton morphology	9158	FIBP	ORPHA:500095
HP:0011844	Abnormal appendicular skeleton morphology	9968	MED12	ORPHA:93932
HP:0011844	Abnormal appendicular skeleton morphology	8200	GDF5	ORPHA:2639
HP:0011844	Abnormal appendicular skeleton morphology	658	BMPR1B	ORPHA:2639
HP:0011844	Abnormal appendicular skeleton morphology	672	BRCA1	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	10459	MAD2L2	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	7516	XRCC2	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	29089	UBE2T	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	675	BRCA2	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	55120	FANCL	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2175	FANCA	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2187	FANCB	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2176	FANCC	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2178	FANCE	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2188	FANCF	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	5888	RAD51	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	5889	RAD51C	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	55159	RFWD3	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	83990	BRIP1	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	57697	FANCM	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	79728	PALB2	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	84464	SLX4	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	2072	ERCC4	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	55215	FANCI	ORPHA:84
HP:0011844	Abnormal appendicular skeleton morphology	64093	SMOC1	ORPHA:1106
HP:0011844	Abnormal appendicular skeleton morphology	2261	FGFR3	OMIM:620192
HP:0011844	Abnormal appendicular skeleton morphology	2261	FGFR3	ORPHA:2363
HP:0011844	Abnormal appendicular skeleton morphology	23111	SPART	ORPHA:101000
HP:0011844	Abnormal appendicular skeleton morphology	25942	SIN3A	ORPHA:94065
HP:0011844	Abnormal appendicular skeleton morphology	1193	CLIC2	ORPHA:324410
HP:0011844	Abnormal appendicular skeleton morphology	860	RUNX2	ORPHA:1452
HP:0011844	Abnormal appendicular skeleton morphology	2255	FGF10	ORPHA:2363
HP:0011844	Abnormal appendicular skeleton morphology	6469	SHH	ORPHA:93321
HP:0011844	Abnormal appendicular skeleton morphology	57167	SALL4	ORPHA:233
HP:0011844	Abnormal appendicular skeleton morphology	57167	SALL4	ORPHA:959
HP:0011844	Abnormal appendicular skeleton morphology	57167	SALL4	ORPHA:2307
HP:0011844	Abnormal appendicular skeleton morphology	9935	MAFB	ORPHA:233
HP:0011844	Abnormal appendicular skeleton morphology	1123	CHN1	ORPHA:233
HP:0011844	Abnormal appendicular skeleton morphology	2137	EXTL3	ORPHA:508533
HP:0011844	Abnormal appendicular skeleton morphology	22827	PUF60	ORPHA:508498
HP:0011844	Abnormal appendicular skeleton morphology	65250	CPLANE1	OMIM:277170
HP:0011844	Abnormal appendicular skeleton morphology	6608	SMO	OMIM:601707
HP:0011844	Abnormal appendicular skeleton morphology	6608	SMO	ORPHA:1553
HP:0011844	Abnormal appendicular skeleton morphology	4750	NEK1	OMIM:263520
HP:0011844	Abnormal appendicular skeleton morphology	2737	GLI3	OMIM:175700
HP:0011844	Abnormal appendicular skeleton morphology	2737	GLI3	ORPHA:380
HP:0011844	Abnormal appendicular skeleton morphology	2737	GLI3	OMIM:174200
HP:0011844	Abnormal appendicular skeleton morphology	64327	LMBR1	ORPHA:2378
HP:0011844	Abnormal appendicular skeleton morphology	64327	LMBR1	OMIM:174500
HP:0011844	Abnormal appendicular skeleton morphology	55027	HEATR3	OMIM:620072
HP:0011844	Abnormal appendicular skeleton morphology	6299	SALL1	OMIM:107480
HP:0011844	Abnormal appendicular skeleton morphology	6299	SALL1	ORPHA:857
HP:0011844	Abnormal appendicular skeleton morphology	55112	DYNC2I1	ORPHA:93271
HP:0011844	Abnormal appendicular skeleton morphology	57560	IFT80	ORPHA:93271
HP:0011844	Abnormal appendicular skeleton morphology	57539	WDR35	ORPHA:93271
HP:0011844	Abnormal appendicular skeleton morphology	79659	DYNC2H1	ORPHA:93271
HP:0011844	Abnormal appendicular skeleton morphology	89891	DYNC2I2	ORPHA:93271
HP:0011844	Abnormal appendicular skeleton morphology	374879	ZNF699	OMIM:619488
HP:0011844	Abnormal appendicular skeleton morphology	374654	KIF7	OMIM:200990
HP:0011844	Abnormal appendicular skeleton morphology	8318	CDC45	OMIM:617063
HP:0011844	Abnormal appendicular skeleton morphology	51339	DACT1	ORPHA:857
HP:0011844	Abnormal appendicular skeleton morphology	2177	FANCD2	OMIM:227646
HP:0011844	Abnormal appendicular skeleton morphology	727857	BHLHA9	ORPHA:3329
HP:0011844	Abnormal appendicular skeleton morphology	23133	PHF8	ORPHA:85287
HP:0011844	Abnormal appendicular skeleton morphology	8481	OFD1	ORPHA:2750
HP:0011844	Abnormal appendicular skeleton morphology	219844	HYLS1	OMIM:236680
HP:0011844	Abnormal appendicular skeleton morphology	26123	TCTN3	ORPHA:2753
HP:0011844	Abnormal appendicular skeleton morphology	26123	TCTN3	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	2697	GJA1	ORPHA:2710
HP:0011844	Abnormal appendicular skeleton morphology	3239	HOXD13	ORPHA:887
HP:0011844	Abnormal appendicular skeleton morphology	7020	TFAP2A	OMIM:113620
HP:0011844	Abnormal appendicular skeleton morphology	7020	TFAP2A	ORPHA:1297
HP:0011844	Abnormal appendicular skeleton morphology	84314	TMEM107	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	79867	TCTN2	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	80776	B9D2	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	79600	TCTN1	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	57096	RPGRIP1	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	79848	CSPP1	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	80184	CEP290	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	51259	TMEM216	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	57545	CC2D2A	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	79583	TMEM231	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	91147	TMEM67	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	79770	TXNDC15	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	27077	B9D1	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	23322	RPGRIP1L	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	54903	MKS1	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	65062	TMEM237	ORPHA:564
HP:0011844	Abnormal appendicular skeleton morphology	10815	CPLX1	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	10815	CPLX1	OMIM:194190
HP:0011844	Abnormal appendicular skeleton morphology	54872	PIGG	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	7469	NELFA	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	1487	CTBP1	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	1487	CTBP1	OMIM:194190
HP:0011844	Abnormal appendicular skeleton morphology	3954	LETM1	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	3954	LETM1	OMIM:194190
HP:0011844	Abnormal appendicular skeleton morphology	7468	NSD2	ORPHA:280
HP:0011844	Abnormal appendicular skeleton morphology	7468	NSD2	OMIM:194190
HP:0011844	Abnormal appendicular skeleton morphology	2735	GLI1	OMIM:174400
HP:0011844	Abnormal appendicular skeleton morphology	53834	FGFRL1	OMIM:194190
HP:0011844	Abnormal appendicular skeleton morphology	9343	EFTUD2	OMIM:610536
HP:0011844	Abnormal appendicular skeleton morphology	9343	EFTUD2	ORPHA:79113
HP:0011844	Abnormal appendicular skeleton morphology	2263	FGFR2	OMIM:101200
HP:0011844	Abnormal appendicular skeleton morphology	157570	ESCO2	OMIM:268300
HP:0011844	Abnormal appendicular skeleton morphology	9401	RECQL4	ORPHA:1225
HP:0011844	Abnormal appendicular skeleton morphology	25836	NIPBL	OMIM:122470
HP:0011844	Abnormal appendicular skeleton morphology	6154	RPL26	OMIM:614900
HP:0011844	Abnormal appendicular skeleton morphology	10262	SF3B4	ORPHA:1788
HP:0011844	Abnormal appendicular skeleton morphology	1802	DPH2	OMIM:620062
HP:0011844	Abnormal appendicular skeleton morphology	91949	COG7	OMIM:608779
HP:0011844	Abnormal appendicular skeleton morphology	91949	COG7	ORPHA:79333
HP:0011844	Abnormal appendicular skeleton morphology	27238	GPKOW	ORPHA:2570
HP:0011844	Abnormal appendicular skeleton morphology	23141	ANKLE2	OMIM:616681
HP:0011844	Abnormal appendicular skeleton morphology	29895	MYL11	OMIM:619110
HP:0011844	Abnormal appendicular skeleton morphology	5393	EXOSC9	OMIM:618065
HP:0011844	Abnormal appendicular skeleton morphology	1861	TOR1A	OMIM:618947
HP:0011844	Abnormal appendicular skeleton morphology	55627	SMPD4	OMIM:618622
HP:0011844	Abnormal appendicular skeleton morphology	6804	STX1A	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	7461	CLIP2	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	84277	DNAJC30	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	8468	FKBP6	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	5982	RFC2	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	2969	GTF2I	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	3984	LIMK1	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	9569	GTF2IRD1	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	155382	VPS37D	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	155368	METTL27	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	114049	BUD23	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	7458	EIF4H	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	84163	GTF2IRD2	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	9275	BCL7B	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	26608	TBL2	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	653361	NCF1	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	135886	TMEM270	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	51085	MLXIPL	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	9031	BAZ1B	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	2006	ELN	ORPHA:904
HP:0011844	Abnormal appendicular skeleton morphology	2006	ELN	ORPHA:90348
HP:0011844	Abnormal appendicular skeleton morphology	5832	ALDH18A1	OMIM:616603
HP:0011844	Abnormal appendicular skeleton morphology	5832	ALDH18A1	OMIM:219150
HP:0011844	Abnormal appendicular skeleton morphology	5832	ALDH18A1	ORPHA:90348
HP:0011844	Abnormal appendicular skeleton morphology	347734	SLC35B2	OMIM:620269
HP:0011844	Abnormal appendicular skeleton morphology	23345	SYNE1	ORPHA:319332
HP:0011844	Abnormal appendicular skeleton morphology	23345	SYNE1	OMIM:618484
HP:0011844	Abnormal appendicular skeleton morphology	1291	COL6A1	ORPHA:75840
HP:0011844	Abnormal appendicular skeleton morphology	1292	COL6A2	ORPHA:75840
HP:0011844	Abnormal appendicular skeleton morphology	1293	COL6A3	ORPHA:75840
HP:0011844	Abnormal appendicular skeleton morphology	9839	ZEB2	ORPHA:261537
HP:0011844	Abnormal appendicular skeleton morphology	9839	ZEB2	ORPHA:261552
HP:0011844	Abnormal appendicular skeleton morphology	215	ABCD1	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	5979	RET	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	2668	GDNF	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	6720	SREBF1	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	1908	EDN3	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	223117	SEMA3D	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	538	ATP7A	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	1910	EDNRB	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	10512	SEMA3C	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	2064	ERBB2	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	2065	ERBB3	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	4902	NRTN	ORPHA:388
HP:0011844	Abnormal appendicular skeleton morphology	10479	SLC9A6	OMIM:300243
HP:0011844	Abnormal appendicular skeleton morphology	10479	SLC9A6	ORPHA:85278
HP:0011844	Abnormal appendicular skeleton morphology	91754	NEK9	OMIM:617022
HP:0011844	Abnormal appendicular skeleton morphology	5649	RELN	ORPHA:89844
HP:0011844	Abnormal appendicular skeleton morphology	54820	NDE1	ORPHA:89844
HP:0011844	Abnormal appendicular skeleton morphology	58	ACTA1	ORPHA:171430
HP:0011844	Abnormal appendicular skeleton morphology	4703	NEB	ORPHA:171430
HP:0011844	Abnormal appendicular skeleton morphology	4703	NEB	OMIM:619334
HP:0011844	Abnormal appendicular skeleton morphology	131377	KLHL40	ORPHA:171430
HP:0011844	Abnormal appendicular skeleton morphology	10324	KLHL41	ORPHA:171430
HP:0011844	Abnormal appendicular skeleton morphology	56203	LMOD3	ORPHA:171430
HP:0011844	Abnormal appendicular skeleton morphology	26227	PHGDH	OMIM:601815
HP:0011844	Abnormal appendicular skeleton morphology	26227	PHGDH	ORPHA:79351
HP:0011844	Abnormal appendicular skeleton morphology	84162	BLTP1	OMIM:617822
HP:0011844	Abnormal appendicular skeleton morphology	202018	TAPT1	OMIM:616897
HP:0011844	Abnormal appendicular skeleton morphology	2201	FBN2	OMIM:121050
HP:0011844	Abnormal appendicular skeleton morphology	91869	RFT1	OMIM:612015
HP:0011844	Abnormal appendicular skeleton morphology	2033	EP300	ORPHA:353284
HP:0011844	Abnormal appendicular skeleton morphology	4621	MYH3	OMIM:618436
HP:0011844	Abnormal appendicular skeleton morphology	4621	MYH3	OMIM:193700
HP:0011844	Abnormal appendicular skeleton morphology	4621	MYH3	ORPHA:1147
HP:0011844	Abnormal appendicular skeleton morphology	4621	MYH3	ORPHA:1146
HP:0011844	Abnormal appendicular skeleton morphology	3897	L1CAM	ORPHA:306617
HP:0011844	Abnormal appendicular skeleton morphology	3897	L1CAM	OMIM:303350
HP:0011844	Abnormal appendicular skeleton morphology	3897	L1CAM	OMIM:307000
HP:0011844	Abnormal appendicular skeleton morphology	3897	L1CAM	ORPHA:2182
HP:0011844	Abnormal appendicular skeleton morphology	388015	RTL1	ORPHA:96334
HP:0011844	Abnormal appendicular skeleton morphology	8788	DLK1	ORPHA:96334
HP:0011844	Abnormal appendicular skeleton morphology	55384	MEG3	ORPHA:96334
HP:0011844	Abnormal appendicular skeleton morphology	2067	ERCC1	OMIM:610758
HP:0011844	Abnormal appendicular skeleton morphology	9179	AP4M1	OMIM:612936
HP:0011844	Abnormal appendicular skeleton morphology	7169	TPM2	OMIM:108120
HP:0011844	Abnormal appendicular skeleton morphology	7169	TPM2	ORPHA:1147
HP:0011844	Abnormal appendicular skeleton morphology	7169	TPM2	ORPHA:1146
HP:0011844	Abnormal appendicular skeleton morphology	126792	B3GALT6	ORPHA:536467
HP:0011844	Abnormal appendicular skeleton morphology	50515	CHST11	OMIM:618167
HP:0011844	Abnormal appendicular skeleton morphology	79868	ALG13	ORPHA:324422
HP:0011844	Abnormal appendicular skeleton morphology	259232	NALCN	OMIM:616266
HP:0011844	Abnormal appendicular skeleton morphology	259232	NALCN	ORPHA:1147
HP:0011844	Abnormal appendicular skeleton morphology	259232	NALCN	ORPHA:1146
HP:0011844	Abnormal appendicular skeleton morphology	23483	TGDS	OMIM:616145
HP:0011844	Abnormal appendicular skeleton morphology	729920	CRPPA	OMIM:614643
HP:0011844	Abnormal appendicular skeleton morphology	7136	TNNI2	ORPHA:1147
HP:0011844	Abnormal appendicular skeleton morphology	7136	TNNI2	ORPHA:1146
HP:0011844	Abnormal appendicular skeleton morphology	10273	STUB1	ORPHA:412057
HP:0011844	Abnormal appendicular skeleton morphology	1387	CREBBP	ORPHA:353277
HP:0011844	Abnormal appendicular skeleton morphology	4604	MYBPC1	ORPHA:1146
HP:0011844	Abnormal appendicular skeleton morphology	10516	FBLN5	ORPHA:90348
HP:0011844	Abnormal appendicular skeleton morphology	57211	ADGRG6	OMIM:616503
HP:0011844	Abnormal appendicular skeleton morphology	9939	RBM8A	ORPHA:3320
HP:0011844	Abnormal appendicular skeleton morphology	9939	RBM8A	OMIM:274000
HP:0011844	Abnormal appendicular skeleton morphology	23299	BICD2	OMIM:618291
HP:0011844	Abnormal appendicular skeleton morphology	10195	ALG3	OMIM:601110
HP:0011844	Abnormal appendicular skeleton morphology	10943	MSL3	OMIM:301032
HP:0011844	Abnormal appendicular skeleton morphology	3977	LIFR	OMIM:601559
HP:0011844	Abnormal appendicular skeleton morphology	9427	ECEL1	OMIM:615065
HP:0011844	Abnormal appendicular skeleton morphology	6999	TDO2	OMIM:600627
HP:0011844	Abnormal appendicular skeleton morphology	84896	ATAD1	OMIM:618011
HP:0011844	Abnormal appendicular skeleton morphology	2036	EPB41L1	OMIM:614257
HP:0011844	Abnormal appendicular skeleton morphology	51002	TPRKB	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	84942	WDR73	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	55644	OSGEP	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	57122	NUP107	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	10785	WDR4	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	55746	NUP133	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	8270	LAGE3	ORPHA:2065
HP:0011844	Abnormal appendicular skeleton morphology	8367	H4C5	OMIM:619950
HP:0011844	Abnormal appendicular skeleton morphology	9853	RUSC2	OMIM:617773
HP:0011844	Abnormal appendicular skeleton morphology	23019	CNOT1	OMIM:619033
HP:0011844	Abnormal appendicular skeleton morphology	26128	KIFBP	OMIM:609460
HP:0011844	Abnormal appendicular skeleton morphology	2972	BRF1	OMIM:616202
HP:0011844	Abnormal appendicular skeleton morphology	2972	BRF1	ORPHA:444072
HP:0011844	Abnormal appendicular skeleton morphology	56916	SMARCAD1	OMIM:129200
HP:0011844	Abnormal appendicular skeleton morphology	56916	SMARCAD1	OMIM:181600
HP:0011844	Abnormal appendicular skeleton morphology	9578	CDC42BPB	OMIM:619841
HP:0011844	Abnormal appendicular skeleton morphology	3020	H3-3A	OMIM:619720
HP:0011844	Abnormal appendicular skeleton morphology	170302	ARX	OMIM:300004
HP:0011844	Abnormal appendicular skeleton morphology	3021	H3-3B	OMIM:619721
HP:0011844	Abnormal appendicular skeleton morphology	10300	KATNB1	OMIM:616212
HP:0011844	Abnormal appendicular skeleton morphology	2624	GATA2	OMIM:614038
HP:0011844	Abnormal appendicular skeleton morphology	55904	KMT2E	OMIM:618512
HP:0011844	Abnormal appendicular skeleton morphology	10978	CLP1	OMIM:615803
HP:0011844	Abnormal appendicular skeleton morphology	55650	PIGV	OMIM:239300
HP:0011844	Abnormal appendicular skeleton morphology	6335	SCN9A	ORPHA:970
HP:0011844	Abnormal appendicular skeleton morphology	65125	WNK1	ORPHA:970
HP:0011844	Abnormal appendicular skeleton morphology	54463	RETREG1	ORPHA:970
HP:0011844	Abnormal appendicular skeleton morphology	547	KIF1A	ORPHA:970
HP:0011844	Abnormal appendicular skeleton morphology	547	KIF1A	ORPHA:2836
HP:0011844	Abnormal appendicular skeleton morphology	6595	SMARCA2	OMIM:619293
HP:0011844	Abnormal appendicular skeleton morphology	80204	FBXO11	OMIM:618089
HP:0011844	Abnormal appendicular skeleton morphology	113189	CHST14	ORPHA:2953
HP:0011844	Abnormal appendicular skeleton morphology	29940	DSE	ORPHA:2953
HP:0011844	Abnormal appendicular skeleton morphology	1889	ECE1	OMIM:613870
HP:0011844	Abnormal appendicular skeleton morphology	9326	ZNHIT3	ORPHA:2836
HP:0011844	Abnormal appendicular skeleton morphology	9326	ZNHIT3	OMIM:260565
HP:0011844	Abnormal appendicular skeleton morphology	2770	GNAI1	OMIM:619854
HP:0011844	Abnormal appendicular skeleton morphology	83550	GPR101	ORPHA:963
HP:0011844	Abnormal appendicular skeleton morphology	9049	AIP	ORPHA:963
HP:0011844	Abnormal appendicular skeleton morphology	157680	VPS13B	OMIM:216550
HP:0011844	Abnormal appendicular skeleton morphology	157680	VPS13B	ORPHA:193
HP:0011844	Abnormal appendicular skeleton morphology	2626	GATA4	ORPHA:251071
HP:0011844	Abnormal appendicular skeleton morphology	84823	LMNB2	OMIM:619180
HP:0011844	Abnormal appendicular skeleton morphology	9896	FIG4	ORPHA:3472
HP:0011844	Abnormal appendicular skeleton morphology	9896	FIG4	OMIM:216340
HP:0011844	Abnormal appendicular skeleton morphology	55697	VAC14	ORPHA:3472
HP:0011844	Abnormal appendicular skeleton morphology	6792	CDKL5	OMIM:300672
HP:0011844	Abnormal appendicular skeleton morphology	7025	NR2F1	ORPHA:401777
HP:0011844	Abnormal appendicular skeleton morphology	7025	NR2F1	OMIM:615722
HP:0011844	Abnormal appendicular skeleton morphology	253738	EBF3	OMIM:617330
HP:0011844	Abnormal appendicular skeleton morphology	55699	IARS2	OMIM:616007
HP:0011844	Abnormal appendicular skeleton morphology	8239	USP9X	ORPHA:480880
HP:0011844	Abnormal appendicular skeleton morphology	8239	USP9X	OMIM:300968
HP:0011844	Abnormal appendicular skeleton morphology	285175	UNC80	OMIM:616801
HP:0011844	Abnormal appendicular skeleton morphology	79753	SNIP1	OMIM:614501
HP:0011844	Abnormal appendicular skeleton morphology	6134	RPL10	ORPHA:459070
HP:0011844	Abnormal appendicular skeleton morphology	6134	RPL10	OMIM:300998
HP:0011844	Abnormal appendicular skeleton morphology	6134	RPL10	ORPHA:435938
HP:0011844	Abnormal appendicular skeleton morphology	1859	DYRK1A	ORPHA:464311
HP:0011844	Abnormal appendicular skeleton morphology	1859	DYRK1A	ORPHA:268261
HP:0011844	Abnormal appendicular skeleton morphology	1303	COL12A1	ORPHA:536516
HP:0011844	Abnormal appendicular skeleton morphology	51611	DPH5	OMIM:620070
HP:0011844	Abnormal appendicular skeleton morphology	79813	EHMT1	ORPHA:261652
HP:0011844	Abnormal appendicular skeleton morphology	58508	KMT2C	ORPHA:261652
HP:0011844	Abnormal appendicular skeleton morphology	4094	MAF	ORPHA:1272
HP:0011844	Abnormal appendicular skeleton morphology	4094	MAF	OMIM:601088
HP:0011844	Abnormal appendicular skeleton morphology	7750	ZMYM2	OMIM:619522
HP:0011844	Abnormal appendicular skeleton morphology	5594	MAPK1	OMIM:619087
HP:0011844	Abnormal appendicular skeleton morphology	4849	CNOT3	OMIM:618672
HP:0011844	Abnormal appendicular skeleton morphology	6942	TCF20	OMIM:618430
HP:0011844	Abnormal appendicular skeleton morphology	81887	LAS1L	ORPHA:3459
HP:0011844	Abnormal appendicular skeleton morphology	81887	LAS1L	OMIM:309585
HP:0011844	Abnormal appendicular skeleton morphology	55869	HDAC8	ORPHA:3459
HP:0011844	Abnormal appendicular skeleton morphology	7140	TNNT3	OMIM:618435
HP:0011844	Abnormal appendicular skeleton morphology	6925	TCF4	OMIM:610954
HP:0011844	Abnormal appendicular skeleton morphology	6925	TCF4	ORPHA:2896
HP:0011844	Abnormal appendicular skeleton morphology	7030	TFE3	OMIM:301066
HP:0011844	Abnormal appendicular skeleton morphology	546	ATRX	OMIM:309580
HP:0011844	Abnormal appendicular skeleton morphology	546	ATRX	OMIM:301040
HP:0011844	Abnormal appendicular skeleton morphology	84295	PHF6	ORPHA:127
HP:0011844	Abnormal appendicular skeleton morphology	84295	PHF6	OMIM:301900
HP:0011844	Abnormal appendicular skeleton morphology	91252	SLC39A13	ORPHA:157965
HP:0011844	Abnormal appendicular skeleton morphology	91252	SLC39A13	OMIM:612350
HP:0011844	Abnormal appendicular skeleton morphology	171023	ASXL1	OMIM:605039
HP:0011844	Abnormal appendicular skeleton morphology	22907	DHX30	OMIM:617804
HP:0011844	Abnormal appendicular skeleton morphology	9230	RAB11B	OMIM:617807
HP:0011844	Abnormal appendicular skeleton morphology	5277	PIGA	OMIM:301072
HP:0011844	Abnormal appendicular skeleton morphology	389827	MYMK	OMIM:254940
HP:0011844	Abnormal appendicular skeleton morphology	10075	HUWE1	OMIM:309590
HP:0011844	Abnormal appendicular skeleton morphology	9488	PIGB	OMIM:618580
HP:0011844	Abnormal appendicular skeleton morphology	8243	SMC1A	OMIM:301044
HP:0011844	Abnormal appendicular skeleton morphology	23013	SPEN	OMIM:619312
HP:0011844	Abnormal appendicular skeleton morphology	56896	DPYSL5	OMIM:619435
HP:0011844	Abnormal appendicular skeleton morphology	9698	PUM1	OMIM:617931
HP:0011844	Abnormal appendicular skeleton morphology	23028	KDM1A	OMIM:616728
HP:0011844	Abnormal appendicular skeleton morphology	23028	KDM1A	ORPHA:477993
HP:0011844	Abnormal appendicular skeleton morphology	5575	PRKAR1B	OMIM:619680
HP:0011844	Abnormal appendicular skeleton morphology	91179	SCARF2	OMIM:600920
HP:0011844	Abnormal appendicular skeleton morphology	6492	SIM1	ORPHA:171829
HP:0011844	Abnormal appendicular skeleton morphology	2782	GNB1	OMIM:616973
HP:0011844	Abnormal appendicular skeleton morphology	4953	ODC1	ORPHA:544488
HP:0011844	Abnormal appendicular skeleton morphology	998	CDC42	OMIM:616737
HP:0011844	Abnormal appendicular skeleton morphology	998	CDC42	ORPHA:487796
HP:0011844	Abnormal appendicular skeleton morphology	3097	HIVEP2	OMIM:616977
HP:0011844	Abnormal appendicular skeleton morphology	4131	MAP1B	OMIM:618918
HP:0011844	Abnormal appendicular skeleton morphology	56915	EXOSC5	OMIM:619576
HP:0011844	Abnormal appendicular skeleton morphology	10588	MTHFS	OMIM:618367
HP:0011844	Abnormal appendicular skeleton morphology	63035	BCORL1	OMIM:301029
HP:0011844	Abnormal appendicular skeleton morphology	10265	IRX5	OMIM:611174
HP:0011844	Abnormal appendicular skeleton morphology	1108	CHD4	OMIM:617159
HP:0011844	Abnormal appendicular skeleton morphology	91137	SLC25A46	OMIM:616505
HP:0011844	Abnormal appendicular skeleton morphology	8604	SLC25A12	OMIM:612949
HP:0011844	Abnormal appendicular skeleton morphology	7703	PCGF2	OMIM:618371
HP:0011844	Abnormal appendicular skeleton morphology	83696	TRAPPC9	ORPHA:352530
HP:0011844	Abnormal appendicular skeleton morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011844	Abnormal appendicular skeleton morphology	54551	MAGEL2	OMIM:615547
HP:0011844	Abnormal appendicular skeleton morphology	2707	GJB3	ORPHA:317
HP:0011844	Abnormal appendicular skeleton morphology	2531	KDSR	ORPHA:317
HP:0011844	Abnormal appendicular skeleton morphology	127534	GJB4	ORPHA:317
HP:0011844	Abnormal appendicular skeleton morphology	9244	CRLF1	OMIM:272430
HP:0011844	Abnormal appendicular skeleton morphology	8812	CCNK	OMIM:618147
HP:0011844	Abnormal appendicular skeleton morphology	112858	TP53RK	OMIM:617730
HP:0011844	Abnormal appendicular skeleton morphology	80036	TRPM3	OMIM:620224
HP:0011844	Abnormal appendicular skeleton morphology	8936	WASF1	OMIM:618707
HP:0011844	Abnormal appendicular skeleton morphology	8405	SPOP	OMIM:618829
HP:0011844	Abnormal appendicular skeleton morphology	23630	KCNE5	ORPHA:86818
HP:0011844	Abnormal appendicular skeleton morphology	2182	ACSL4	ORPHA:86818
HP:0011844	Abnormal appendicular skeleton morphology	9949	AMMECR1	ORPHA:86818
HP:0011844	Abnormal appendicular skeleton morphology	11198	SUPT16H	OMIM:619480
HP:0011844	Abnormal appendicular skeleton morphology	23556	PIGN	ORPHA:280633
HP:0011844	Abnormal appendicular skeleton morphology	23067	SETD1B	OMIM:619000
HP:0011844	Abnormal appendicular skeleton morphology	23233	EXOC6B	OMIM:618395
HP:0011844	Abnormal appendicular skeleton morphology	5075	PAX1	OMIM:615560
HP:0011844	Abnormal appendicular skeleton morphology	55704	CCDC88A	OMIM:617507
HP:0011844	Abnormal appendicular skeleton morphology	1376	CPT2	OMIM:608836
HP:0011844	Abnormal appendicular skeleton morphology	8242	KDM5C	ORPHA:85279
HP:0011844	Abnormal appendicular skeleton morphology	1315	COPB1	OMIM:619255
HP:0011844	Abnormal appendicular skeleton morphology	51317	PHF21A	OMIM:618725
HP:0011844	Abnormal appendicular skeleton morphology	1968	EIF2S3	ORPHA:85282
HP:0011844	Abnormal appendicular skeleton morphology	5557	PRIM1	OMIM:620005
HP:0011844	Abnormal appendicular skeleton morphology	1795	DOCK3	OMIM:618292
HP:0011844	Abnormal appendicular skeleton morphology	3636	INPPL1	ORPHA:2746
HP:0011844	Abnormal appendicular skeleton morphology	4654	MYOD1	OMIM:618975
HP:0011844	Abnormal appendicular skeleton morphology	11342	RNF13	ORPHA:544503
HP:0011844	Abnormal appendicular skeleton morphology	6197	RPS6KA3	OMIM:303600
HP:0011844	Abnormal appendicular skeleton morphology	9791	PTDSS1	OMIM:151050
HP:0011844	Abnormal appendicular skeleton morphology	2245	FGD1	OMIM:305400
HP:0011844	Abnormal appendicular skeleton morphology	9759	HDAC4	OMIM:619797
HP:0011844	Abnormal appendicular skeleton morphology	3756	KCNH1	OMIM:135500
HP:0011844	Abnormal appendicular skeleton morphology	57479	PRR12	OMIM:619539
HP:0011844	Abnormal appendicular skeleton morphology	6611	SMS	OMIM:309583
HP:0011844	Abnormal appendicular skeleton morphology	673	BRAF	OMIM:115150
HP:0011844	Abnormal appendicular skeleton morphology	91461	PKDCC	OMIM:618821
HP:0011844	Abnormal appendicular skeleton morphology	92344	GORAB	OMIM:231070
HP:0011844	Abnormal appendicular skeleton morphology	54499	TMCO1	OMIM:213980
HP:0011844	Abnormal appendicular skeleton morphology	387733	IFITM5	OMIM:610967
HP:0011844	Abnormal appendicular skeleton morphology	51633	OTUD6B	ORPHA:505237
HP:0011844	Abnormal appendicular skeleton morphology	23114	NFASC	OMIM:618356
HP:0011844	Abnormal appendicular skeleton morphology	1289	COL5A1	OMIM:130000
HP:0011844	Abnormal appendicular skeleton morphology	1278	COL1A2	OMIM:617821
HP:0011844	Abnormal appendicular skeleton morphology	427	ASAH1	OMIM:228000
HP:0011844	Abnormal appendicular skeleton morphology	9373	PLAA	ORPHA:521426
HP:0011844	Abnormal appendicular skeleton morphology	2783	GNB2	OMIM:619503
HP:0011844	Abnormal appendicular skeleton morphology	3265	HRAS	OMIM:218040
HP:0011844	Abnormal appendicular skeleton morphology	2200	FBN1	OMIM:616914
HP:0011844	Abnormal appendicular skeleton morphology	121340	SP7	OMIM:613849
HP:0011844	Abnormal appendicular skeleton morphology	3782	KCNN3	OMIM:618658
HP:0011844	Abnormal appendicular skeleton morphology	5063	PAK3	OMIM:300558
HP:0011844	Abnormal appendicular skeleton morphology	6228	RPS23	OMIM:617412
HP:0011844	Abnormal appendicular skeleton morphology	23065	EMC1	ORPHA:480898
HP:0011844	Abnormal appendicular skeleton morphology	23065	EMC1	OMIM:616875
HP:0011844	Abnormal appendicular skeleton morphology	1105	CHD1	OMIM:617682
HP:0011844	Abnormal appendicular skeleton morphology	94	ACVRL1	OMIM:600376
HP:0011844	Abnormal appendicular skeleton morphology	6340	SCNN1G	ORPHA:60033
HP:0011844	Abnormal appendicular skeleton morphology	1080	CFTR	ORPHA:60033
HP:0011844	Abnormal appendicular skeleton morphology	6337	SCNN1A	ORPHA:60033
HP:0011844	Abnormal appendicular skeleton morphology	6338	SCNN1B	ORPHA:60033
HP:0011844	Abnormal appendicular skeleton morphology	6440	SFTPC	OMIM:610913
HP:0011844	Abnormal appendicular skeleton morphology	6439	SFTPB	OMIM:265120
HP:0011844	Abnormal appendicular skeleton morphology	2022	ENG	OMIM:187300
HP:0011844	Abnormal appendicular skeleton morphology	653509	SFTPA1	OMIM:619611
HP:0011844	Abnormal appendicular skeleton morphology	738	VPS51	OMIM:618606
HP:0011844	Abnormal appendicular skeleton morphology	56244	BTNL2	OMIM:612387
HP:0011844	Abnormal appendicular skeleton morphology	6794	STK11	OMIM:175200
HP:0011844	Abnormal appendicular skeleton morphology	404672	GTF2H5	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	833	CARS1	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	7737	RNF113A	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	136647	MPLKIP	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	6897	TARS1	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	2071	ERCC3	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	2961	GTF2E2	ORPHA:33364
HP:0011844	Abnormal appendicular skeleton morphology	21	ABCA3	OMIM:610921
HP:0011844	Abnormal appendicular skeleton morphology	3858	KRT10	OMIM:609165
HP:0011844	Abnormal appendicular skeleton morphology	25981	DNAH1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	115948	ODAD3	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	54768	HYDIN	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	352909	DNAAF3	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	27148	STK36	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	51314	NME8	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	92749	DRC1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	54970	TTC12	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	152110	NEK10	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	2302	FOXJ1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	221421	RSPH9	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	85478	CCDC65	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	55036	CCDC40	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	51364	ZMYND10	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	64446	DNAI2	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	6674	SPAG1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	83544	DNAL1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	89765	RSPH1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	83538	ODAD4	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	200373	CFAP221	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	374407	DNAJB13	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	55172	DNAAF2	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	161582	DNAAF4	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	2622	GAS8	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	23639	DNAAF11	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	27019	DNAI1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	345895	RSPH4A	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	54919	DNAAF5	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	6103	RPGR	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	388389	CCDC103	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	93233	ODAD1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	55130	ODAD2	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	1767	DNAH5	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	83861	RSPH3	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	345643	MCIDAS	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	56683	CFAP298	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	79925	SPEF2	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	10309	CCNO	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	115399	LRRC56	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	139212	DNAAF6	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	123872	DNAAF1	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	85016	CFAP300	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	339829	CCDC39	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	8701	DNAH11	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	1770	DNAH9	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	246176	GAS2L2	ORPHA:244
HP:0011844	Abnormal appendicular skeleton morphology	1604	CD55	OMIM:226300
HP:0011844	Abnormal appendicular skeleton morphology	10892	MALT1	OMIM:615468
HP:0011844	Abnormal appendicular skeleton morphology	7317	UBA1	ORPHA:1145
HP:0011844	Abnormal appendicular skeleton morphology	3868	KRT16	ORPHA:2199
HP:0011844	Abnormal appendicular skeleton morphology	3857	KRT9	ORPHA:2199
HP:0011844	Abnormal appendicular skeleton morphology	3848	KRT1	ORPHA:2199
HP:0011844	Abnormal appendicular skeleton morphology	3861	KRT14	ORPHA:69087
HP:0011844	Abnormal appendicular skeleton morphology	4323	MMP14	ORPHA:371428
HP:0011844	Abnormal appendicular skeleton morphology	4323	MMP14	OMIM:277950
HP:0011844	Abnormal appendicular skeleton morphology	3955	LFNG	OMIM:609813
HP:0011844	Abnormal appendicular skeleton morphology	10525	HYOU1	OMIM:233600
HP:0011844	Abnormal appendicular skeleton morphology	2138	EYA1	OMIM:113650
HP:0011844	Abnormal appendicular skeleton morphology	6495	SIX1	OMIM:113650
HP:0011844	Abnormal appendicular skeleton morphology	1131	CHRM3	ORPHA:2970
HP:0011844	Abnormal appendicular skeleton morphology	1131	CHRM3	OMIM:100100
HP:0011844	Abnormal appendicular skeleton morphology	60482	SLC5A7	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	4649	MYO9A	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	1305	COL13A1	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	1103	CHAT	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	6576	SLC25A1	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	6843	VAMP1	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	375790	AGRN	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	127833	SYT2	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	6616	SNAP25	ORPHA:98914
HP:0011844	Abnormal appendicular skeleton morphology	529	ATP6V1E1	ORPHA:357074
HP:0011844	Abnormal appendicular skeleton morphology	5528	PPP2R5D	ORPHA:457279
HP:0011844	Abnormal appendicular skeleton morphology	5528	PPP2R5D	OMIM:616355
HP:0011844	Abnormal appendicular skeleton morphology	50628	GEMIN4	OMIM:617913
HP:0011844	Abnormal appendicular skeleton morphology	7067	THRA	OMIM:614450
HP:0011844	Abnormal appendicular skeleton morphology	4625	MYH7	ORPHA:324604
HP:0011844	Abnormal appendicular skeleton morphology	60684	TRAPPC11	OMIM:615356
HP:0011844	Abnormal appendicular skeleton morphology	7372	UMPS	ORPHA:30
HP:0011844	Abnormal appendicular skeleton morphology	80232	WDR26	ORPHA:513456
HP:0011844	Abnormal appendicular skeleton morphology	478	ATP1A3	OMIM:619606
HP:0011844	Abnormal appendicular skeleton morphology	23729	SHPK	ORPHA:440713
HP:0011844	Abnormal appendicular skeleton morphology	4692	NDN	ORPHA:177904
HP:0011844	Abnormal appendicular skeleton morphology	4692	NDN	ORPHA:177901
HP:0011844	Abnormal appendicular skeleton morphology	4692	NDN	ORPHA:98754
HP:0011844	Abnormal appendicular skeleton morphology	4948	OCA2	ORPHA:177904
HP:0011844	Abnormal appendicular skeleton morphology	4948	OCA2	ORPHA:177901
HP:0011844	Abnormal appendicular skeleton morphology	4948	OCA2	ORPHA:98754
HP:0011844	Abnormal appendicular skeleton morphology	26276	VPS33B	OMIM:208085
HP:0011844	Abnormal appendicular skeleton morphology	57511	COG6	OMIM:614576
HP:0011844	Abnormal appendicular skeleton morphology	63894	VIPAS39	OMIM:613404
HP:0011844	Abnormal appendicular skeleton morphology	55210	ATAD3A	ORPHA:496790
HP:0011844	Abnormal appendicular skeleton morphology	55210	ATAD3A	OMIM:617183
HP:0011844	Abnormal appendicular skeleton morphology	200424	TET3	OMIM:618798
HP:0011844	Abnormal appendicular skeleton morphology	2799	GNS	OMIM:252940
HP:0011844	Abnormal appendicular skeleton morphology	10667	FARS2	ORPHA:466722
HP:0011844	Abnormal appendicular skeleton morphology	55898	UNC45A	OMIM:619377
HP:0011844	Abnormal appendicular skeleton morphology	51780	KDM3B	OMIM:618846
HP:0011844	Abnormal appendicular skeleton morphology	203190	LGI3	OMIM:620007
HP:0011844	Abnormal appendicular skeleton morphology	64432	MRPS25	OMIM:619025
HP:0011844	Abnormal appendicular skeleton morphology	79628	SH3TC2	ORPHA:99949
HP:0011844	Abnormal appendicular skeleton morphology	1642	DDB1	OMIM:619426
HP:0011844	Abnormal appendicular skeleton morphology	55753	OGDHL	OMIM:619701
HP:0011844	Abnormal appendicular skeleton morphology	1499	CTNNB1	OMIM:615075
HP:0011844	Abnormal appendicular skeleton morphology	9181	ARHGEF2	OMIM:617523
HP:0011844	Abnormal appendicular skeleton morphology	3736	KCNA1	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	9091	PIGQ	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	2775	GNAO1	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	2902	GRIN1	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	79751	SLC25A22	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	150094	SIK1	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	8573	CASK	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	23312	DMXL2	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	2917	GRM7	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	11284	PNKP	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	6326	SCN2A	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	51227	PIGP	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	6324	SCN1B	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	4761	NEUROD2	ORPHA:1934
HP:0011844	Abnormal appendicular skeleton morphology	65260	COA7	OMIM:618387
HP:0011844	Abnormal appendicular skeleton morphology	112	ADCY6	OMIM:616287
HP:0011844	Abnormal appendicular skeleton morphology	9927	MFN2	OMIM:609260
HP:0011844	Abnormal appendicular skeleton morphology	50717	DCAF8	OMIM:610100
HP:0011844	Abnormal appendicular skeleton morphology	2617	GARS1	ORPHA:139536
HP:0011844	Abnormal appendicular skeleton morphology	2617	GARS1	OMIM:600794
HP:0011844	Abnormal appendicular skeleton morphology	2617	GARS1	OMIM:601472
HP:0011844	Abnormal appendicular skeleton morphology	65055	REEP1	ORPHA:139536
HP:0011844	Abnormal appendicular skeleton morphology	7879	RAB7A	OMIM:600882
HP:0011844	Abnormal appendicular skeleton morphology	5375	PMP2	OMIM:618279
HP:0011844	Abnormal appendicular skeleton morphology	23095	KIF1B	OMIM:118210
HP:0011844	Abnormal appendicular skeleton morphology	8566	PDXK	OMIM:618511
HP:0011844	Abnormal appendicular skeleton morphology	400916	CHCHD10	OMIM:615048
HP:0011844	Abnormal appendicular skeleton morphology	90678	LRSAM1	OMIM:614436
HP:0011844	Abnormal appendicular skeleton morphology	11261	CHP1	OMIM:618438
HP:0011844	Abnormal appendicular skeleton morphology	3710	ITPR3	OMIM:620111
HP:0011844	Abnormal appendicular skeleton morphology	10280	SIGMAR1	OMIM:605726
HP:0011844	Abnormal appendicular skeleton morphology	4358	MPV17	OMIM:618400
HP:0011844	Abnormal appendicular skeleton morphology	57449	PLEKHG5	OMIM:615376
HP:0011844	Abnormal appendicular skeleton morphology	59345	GNB4	OMIM:615185
HP:0011844	Abnormal appendicular skeleton morphology	64423	INF2	OMIM:614455
HP:0011844	Abnormal appendicular skeleton morphology	168667	BMPER	OMIM:608022
HP:0011844	Abnormal appendicular skeleton morphology	8729	GBF1	OMIM:606483
HP:0011844	Abnormal appendicular skeleton morphology	26235	FBXL4	OMIM:615471
HP:0011844	Abnormal appendicular skeleton morphology	22854	NTNG1	ORPHA:3095
HP:0011844	Abnormal appendicular skeleton morphology	9568	GABBR2	ORPHA:3095
HP:0011844	Abnormal appendicular skeleton morphology	9568	GABBR2	OMIM:617903
HP:0011844	Abnormal appendicular skeleton morphology	2590	GALNT2	OMIM:618885
HP:0011844	Abnormal appendicular skeleton morphology	3064	HTT	OMIM:617435
HP:0011844	Abnormal appendicular skeleton morphology	6045	RNF2	OMIM:619460
HP:0011844	Abnormal appendicular skeleton morphology	3800	KIF5C	OMIM:615282
HP:0011844	Abnormal appendicular skeleton morphology	9130	FAM50A	OMIM:300261
HP:0011844	Abnormal appendicular skeleton morphology	6567	SLC16A2	OMIM:300523
HP:0011844	Abnormal appendicular skeleton morphology	242	ALOX12B	OMIM:242100
HP:0011844	Abnormal appendicular skeleton morphology	59344	ALOXE3	OMIM:242100
HP:0011844	Abnormal appendicular skeleton morphology	5896	RAG1	ORPHA:39041
HP:0011844	Abnormal appendicular skeleton morphology	5897	RAG2	ORPHA:39041
HP:0011844	Abnormal appendicular skeleton morphology	64421	DCLRE1C	ORPHA:39041
HP:0011844	Abnormal appendicular skeleton morphology	3575	IL7R	ORPHA:39041
HP:0011844	Abnormal appendicular skeleton morphology	3561	IL2RG	ORPHA:39041
HP:0011844	Abnormal appendicular skeleton morphology	3039	HBA1	ORPHA:98791
HP:0011844	Abnormal appendicular skeleton morphology	3040	HBA2	ORPHA:98791
HP:0011844	Abnormal appendicular skeleton morphology	23265	EXOC7	OMIM:619072
HP:0011844	Abnormal appendicular skeleton morphology	9928	KIF14	OMIM:616258
HP:0011844	Abnormal appendicular skeleton morphology	91647	ATPAF2	OMIM:604273
HP:0011844	Abnormal appendicular skeleton morphology	1718	DHCR24	ORPHA:35107
HP:0011844	Abnormal appendicular skeleton morphology	118987	PDZD8	OMIM:620021
HP:0011844	Abnormal appendicular skeleton morphology	79228	THOC6	ORPHA:363444
HP:0011844	Abnormal appendicular skeleton morphology	6647	SOD1	OMIM:618598
HP:0011844	Abnormal appendicular skeleton morphology	54916	TMEM260	OMIM:617478
HP:0011844	Abnormal appendicular skeleton morphology	26173	INTS1	OMIM:618571
HP:0011844	Abnormal appendicular skeleton morphology	55656	INTS8	OMIM:618572
HP:0011844	Abnormal appendicular skeleton morphology	10159	ATP6AP2	ORPHA:93952
HP:0011844	Abnormal appendicular skeleton morphology	8425	LTBP4	OMIM:613177
HP:0011844	Abnormal appendicular skeleton morphology	1349	COX7B	OMIM:300887
HP:0011844	Abnormal appendicular skeleton morphology	6049	RNF6	ORPHA:99977
HP:0011844	Abnormal appendicular skeleton morphology	51741	WWOX	ORPHA:99977
HP:0011844	Abnormal appendicular skeleton morphology	9940	DLEC1	ORPHA:99977
HP:0011844	Abnormal appendicular skeleton morphology	2643	GCH1	ORPHA:98808
HP:0011844	Abnormal appendicular skeleton morphology	4929	NR4A2	ORPHA:98808
HP:0011844	Abnormal appendicular skeleton morphology	3615	IMPDH2	ORPHA:98808
HP:0011844	Abnormal appendicular skeleton morphology	3315	HSPB1	OMIM:608634
HP:0011844	Abnormal appendicular skeleton morphology	26353	HSPB8	OMIM:158590
HP:0011844	Abnormal appendicular skeleton morphology	84168	ANTXR1	ORPHA:2067
HP:0011844	Abnormal appendicular skeleton morphology	55858	TMEM165	OMIM:614727
HP:0011844	Abnormal appendicular skeleton morphology	1806	DPYD	ORPHA:1675
HP:0011844	Abnormal appendicular skeleton morphology	2099	ESR1	ORPHA:785
HP:0011844	Abnormal appendicular skeleton morphology	2517	FUCA1	OMIM:230000
HP:0011844	Abnormal appendicular skeleton morphology	2335	FN1	OMIM:184255
HP:0011844	Abnormal appendicular skeleton morphology	2335	FN1	ORPHA:93315
HP:0011844	Abnormal appendicular skeleton morphology	5176	SERPINF1	OMIM:613982
HP:0011844	Abnormal appendicular skeleton morphology	10216	PRG4	ORPHA:2848
HP:0011844	Abnormal appendicular skeleton morphology	10216	PRG4	OMIM:208250
HP:0011844	Abnormal appendicular skeleton morphology	60681	FKBP10	OMIM:259450
HP:0011844	Abnormal appendicular skeleton morphology	60681	FKBP10	OMIM:610968
HP:0011844	Abnormal appendicular skeleton morphology	11014	KDELR2	OMIM:619131
HP:0011844	Abnormal appendicular skeleton morphology	23545	ATP6V0A2	ORPHA:2834
HP:0011844	Abnormal appendicular skeleton morphology	23545	ATP6V0A2	OMIM:278250
HP:0011844	Abnormal appendicular skeleton morphology	10491	CRTAP	OMIM:610682
HP:0011844	Abnormal appendicular skeleton morphology	6137	RPL13	OMIM:618728
HP:0011844	Abnormal appendicular skeleton morphology	9509	ADAMTS2	ORPHA:1901
HP:0011844	Abnormal appendicular skeleton morphology	5830	PEX5	OMIM:616716
HP:0011844	Abnormal appendicular skeleton morphology	10082	GPC6	ORPHA:93329
HP:0011844	Abnormal appendicular skeleton morphology	7040	TGFB1	ORPHA:1328
HP:0011844	Abnormal appendicular skeleton morphology	6916	TBXAS1	ORPHA:1802
HP:0011844	Abnormal appendicular skeleton morphology	2717	GLA	ORPHA:324
HP:0011844	Abnormal appendicular skeleton morphology	55703	POLR3B	OMIM:614381
HP:0011844	Abnormal appendicular skeleton morphology	6662	SOX9	ORPHA:140
HP:0011844	Abnormal appendicular skeleton morphology	6662	SOX9	OMIM:114290
HP:0011844	Abnormal appendicular skeleton morphology	1073	CFL2	ORPHA:171436
HP:0011844	Abnormal appendicular skeleton morphology	6536	SLC6A9	OMIM:617301
HP:0011844	Abnormal appendicular skeleton morphology	55784	MCTP2	ORPHA:1596
HP:0011844	Abnormal appendicular skeleton morphology	8085	KMT2D	ORPHA:2322
HP:0011844	Abnormal appendicular skeleton morphology	5831	PYCR1	OMIM:614438
HP:0011844	Abnormal appendicular skeleton morphology	5831	PYCR1	ORPHA:2078
HP:0011844	Abnormal appendicular skeleton morphology	16	AARS1	OMIM:616339
HP:0011844	Abnormal appendicular skeleton morphology	51010	EXOSC3	OMIM:614678
HP:0011844	Abnormal appendicular skeleton morphology	9915	ARNT2	OMIM:615926
HP:0011844	Abnormal appendicular skeleton morphology	4626	MYH8	ORPHA:3377
HP:0011844	Abnormal appendicular skeleton morphology	4626	MYH8	OMIM:158300
HP:0011844	Abnormal appendicular skeleton morphology	324	APC	ORPHA:3258
HP:0011844	Abnormal appendicular skeleton morphology	23499	MACF1	ORPHA:572013
HP:0011844	Abnormal appendicular skeleton morphology	387119	CEP85L	ORPHA:572013
HP:0011844	Abnormal appendicular skeleton morphology	64135	IFIH1	OMIM:182250
HP:0011844	Abnormal appendicular skeleton morphology	29925	GMPPB	ORPHA:370968
HP:0011844	Abnormal appendicular skeleton morphology	79147	FKRP	ORPHA:370968
HP:0011844	Abnormal appendicular skeleton morphology	29954	POMT2	ORPHA:370968
HP:0011844	Abnormal appendicular skeleton morphology	29954	POMT2	OMIM:613156
HP:0011844	Abnormal appendicular skeleton morphology	9215	LARGE1	ORPHA:370968
HP:0011844	Abnormal appendicular skeleton morphology	10585	POMT1	ORPHA:370968
HP:0011844	Abnormal appendicular skeleton morphology	1351	COX8A	OMIM:619059
HP:0011844	Abnormal appendicular skeleton morphology	2530	FUT8	OMIM:618005
HP:0011844	Abnormal appendicular skeleton morphology	3572	IL6ST	OMIM:618523
HP:0011844	Abnormal appendicular skeleton morphology	25778	DSTYK	ORPHA:101003
HP:0011844	Abnormal appendicular skeleton morphology	1290	COL5A2	ORPHA:287
HP:0011844	Abnormal appendicular skeleton morphology	57531	HACE1	ORPHA:464282
HP:0011844	Abnormal appendicular skeleton morphology	57531	HACE1	OMIM:616756
HP:0011844	Abnormal appendicular skeleton morphology	2743	GLRB	ORPHA:3197
HP:0011844	Abnormal appendicular skeleton morphology	2741	GLRA1	ORPHA:3197
HP:0011844	Abnormal appendicular skeleton morphology	2741	GLRA1	OMIM:149400
HP:0011844	Abnormal appendicular skeleton morphology	10243	GPHN	ORPHA:3197
HP:0011844	Abnormal appendicular skeleton morphology	10243	GPHN	OMIM:149400
HP:0011844	Abnormal appendicular skeleton morphology	9152	SLC6A5	ORPHA:3197
HP:0011844	Abnormal appendicular skeleton morphology	22872	SEC31A	OMIM:618651
HP:0011844	Abnormal appendicular skeleton morphology	26175	LYSET	OMIM:619345
HP:0011844	Abnormal appendicular skeleton morphology	28514	DLL1	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	28514	DLL1	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	28514	DLL1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	28514	DLL1	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	2253	FGF8	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	2253	FGF8	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	2253	FGF8	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	2253	FGF8	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	6496	SIX3	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	6496	SIX3	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	6496	SIX3	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	6496	SIX3	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	7050	TGIF1	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	7050	TGIF1	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	7050	TGIF1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	7050	TGIF1	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	4838	NODAL	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	4838	NODAL	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	4838	NODAL	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	4838	NODAL	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	7546	ZIC2	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	7546	ZIC2	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	7546	ZIC2	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	7546	ZIC2	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	6491	STIL	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	6491	STIL	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	6491	STIL	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	6491	STIL	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	2619	GAS1	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	2619	GAS1	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	2619	GAS1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	2619	GAS1	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	84976	DISP1	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	84976	DISP1	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	84976	DISP1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	84976	DISP1	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	8928	FOXH1	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	8928	FOXH1	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	8928	FOXH1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	8928	FOXH1	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	50937	CDON	ORPHA:93926
HP:0011844	Abnormal appendicular skeleton morphology	50937	CDON	ORPHA:93924
HP:0011844	Abnormal appendicular skeleton morphology	50937	CDON	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	50937	CDON	ORPHA:220386
HP:0011844	Abnormal appendicular skeleton morphology	23007	PLCH1	ORPHA:93925
HP:0011844	Abnormal appendicular skeleton morphology	23443	SLC35A3	OMIM:615553
HP:0011844	Abnormal appendicular skeleton morphology	23443	SLC35A3	ORPHA:370943
HP:0011844	Abnormal appendicular skeleton morphology	3098	HK1	OMIM:618547
HP:0011844	Abnormal appendicular skeleton morphology	10269	ZMPSTE24	ORPHA:740
HP:0011844	Abnormal appendicular skeleton morphology	78989	COLEC11	OMIM:265050
HP:0011844	Abnormal appendicular skeleton morphology	78989	COLEC11	ORPHA:293843
HP:0011844	Abnormal appendicular skeleton morphology	3251	HPRT1	OMIM:300322
HP:0011844	Abnormal appendicular skeleton morphology	55681	SCYL2	ORPHA:1143
HP:0011844	Abnormal appendicular skeleton morphology	84570	COL25A1	ORPHA:1143
HP:0011844	Abnormal appendicular skeleton morphology	57222	ERGIC1	ORPHA:1143
HP:0011844	Abnormal appendicular skeleton morphology	10584	COLEC10	ORPHA:293843
HP:0011844	Abnormal appendicular skeleton morphology	26229	B3GAT3	OMIM:245600
HP:0011844	Abnormal appendicular skeleton morphology	523	ATP6V1A	OMIM:617403
HP:0011844	Abnormal appendicular skeleton morphology	81603	TRIM8	OMIM:619428
HP:0011844	Abnormal appendicular skeleton morphology	1497	CTNS	OMIM:219800
HP:0011844	Abnormal appendicular skeleton morphology	7421	VDR	ORPHA:93160
HP:0011844	Abnormal appendicular skeleton morphology	51256	TBC1D7	OMIM:248000
HP:0011844	Abnormal appendicular skeleton morphology	7360	UGP2	OMIM:618744
HP:0011844	Abnormal appendicular skeleton morphology	4125	MAN2B1	ORPHA:309282
HP:0011844	Abnormal appendicular skeleton morphology	815	CAMK2A	OMIM:617798
HP:0011844	Abnormal appendicular skeleton morphology	10381	TUBB3	ORPHA:300570
HP:0011844	Abnormal appendicular skeleton morphology	83480	PUS3	ORPHA:488627
HP:0011844	Abnormal appendicular skeleton morphology	4763	NF1	ORPHA:363700
HP:0011844	Abnormal appendicular skeleton morphology	4763	NF1	OMIM:162200
HP:0011844	Abnormal appendicular skeleton morphology	1588	CYP19A1	ORPHA:91
HP:0011844	Abnormal appendicular skeleton morphology	9653	HS2ST1	OMIM:619194
HP:0011844	Abnormal appendicular skeleton morphology	3043	HBB	ORPHA:231214
HP:0011844	Abnormal appendicular skeleton morphology	3043	HBB	ORPHA:231226
HP:0011844	Abnormal appendicular skeleton morphology	9394	HS6ST1	OMIM:614880
HP:0011844	Abnormal appendicular skeleton morphology	10466	COG5	ORPHA:263487
HP:0011844	Abnormal appendicular skeleton morphology	8882	ZPR1	OMIM:619321
HP:0011844	Abnormal appendicular skeleton morphology	137682	NDUFAF6	OMIM:618913
HP:0011844	Abnormal appendicular skeleton morphology	153642	ARSK	OMIM:619698
HP:0011844	Abnormal appendicular skeleton morphology	84068	SLC10A7	OMIM:618363
HP:0011844	Abnormal appendicular skeleton morphology	5605	MAP2K2	ORPHA:1340
HP:0011844	Abnormal appendicular skeleton morphology	54681	P4HTM	OMIM:618493
HP:0011844	Abnormal appendicular skeleton morphology	6424	SFRP4	OMIM:265900
HP:0011844	Abnormal appendicular skeleton morphology	2588	GALNS	OMIM:253000
HP:0011844	Abnormal appendicular skeleton morphology	80152	CENPT	OMIM:618702
HP:0011844	Abnormal appendicular skeleton morphology	8139	GAN	ORPHA:643
HP:0011844	Abnormal appendicular skeleton morphology	80169	CTC1	OMIM:612199
HP:0011844	Abnormal appendicular skeleton morphology	871	SERPINH1	OMIM:613848
HP:0011844	Abnormal appendicular skeleton morphology	8726	EED	OMIM:617561
HP:0011844	Abnormal appendicular skeleton morphology	1161	ERCC8	OMIM:216400
HP:0011844	Abnormal appendicular skeleton morphology	10484	SEC23A	OMIM:607812
HP:0011844	Abnormal appendicular skeleton morphology	54187	NANS	OMIM:610442
HP:0011844	Abnormal appendicular skeleton morphology	65082	VPS33A	OMIM:617303
HP:0011844	Abnormal appendicular skeleton morphology	284403	WDR62	OMIM:604317
HP:0011844	Abnormal appendicular skeleton morphology	5442	POLRMT	OMIM:619743
HP:0011844	Abnormal appendicular skeleton morphology	4091	SMAD6	OMIM:179300
HP:0011844	Abnormal appendicular skeleton morphology	8074	FGF23	ORPHA:89937
HP:0011844	Abnormal appendicular skeleton morphology	1962	EHHADH	OMIM:615605
HP:0011844	Abnormal appendicular skeleton morphology	6569	SLC34A1	ORPHA:157215
HP:0011844	Abnormal appendicular skeleton morphology	25885	POLR1A	OMIM:616462
HP:0011844	Abnormal appendicular skeleton morphology	284086	NEK8	OMIM:615415
HP:0011844	Abnormal appendicular skeleton morphology	166929	SGMS2	OMIM:126550
HP:0011844	Abnormal appendicular skeleton morphology	55151	TMEM38B	OMIM:615066
HP:0011844	Abnormal appendicular skeleton morphology	8218	CLTCL1	ORPHA:453510
HP:0011844	Abnormal appendicular skeleton morphology	1184	CLCN5	OMIM:300554
HP:0011844	Abnormal appendicular skeleton morphology	1184	CLCN5	OMIM:300009
HP:0011844	Abnormal appendicular skeleton morphology	142680	SLC34A3	OMIM:241530
HP:0011844	Abnormal appendicular skeleton morphology	1576	CYP3A4	OMIM:619073
HP:0011844	Abnormal appendicular skeleton morphology	286053	NSMCE2	OMIM:617253
HP:0011844	Abnormal appendicular skeleton morphology	51604	PIGT	OMIM:615398
HP:0011844	Abnormal appendicular skeleton morphology	9663	LPIN2	ORPHA:77297
HP:0011844	Abnormal appendicular skeleton morphology	26503	SLC17A5	OMIM:269920
HP:0011844	Abnormal appendicular skeleton morphology	846	CASR	OMIM:239200
HP:0011844	Abnormal appendicular skeleton morphology	90993	CREB3L1	OMIM:616229
HP:0011844	Abnormal appendicular skeleton morphology	55191	NADSYN1	OMIM:618845
HP:0011844	Abnormal appendicular skeleton morphology	1436	CSF1R	OMIM:618476
HP:0011844	Abnormal appendicular skeleton morphology	760	CA2	OMIM:259730
HP:0011844	Abnormal appendicular skeleton morphology	4233	MET	OMIM:607278
HP:0011844	Abnormal appendicular skeleton morphology	5621	PRNP	ORPHA:157941
HP:0011844	Abnormal appendicular skeleton morphology	9573	GDF3	ORPHA:2345
HP:0011844	Abnormal appendicular skeleton morphology	4222	MEOX1	ORPHA:2345
HP:0011844	Abnormal appendicular skeleton morphology	3714	JAG2	OMIM:619566
HP:0011844	Abnormal appendicular skeleton morphology	7138	TNNT1	ORPHA:98902
HP:0011844	Abnormal appendicular skeleton morphology	7138	TNNT1	OMIM:605355
HP:0011844	Abnormal appendicular skeleton morphology	339855	KY	OMIM:617114
HP:0011844	Abnormal appendicular skeleton morphology	55148	UBR7	OMIM:619189
HP:0011844	Abnormal appendicular skeleton morphology	6904	TBCD	ORPHA:496641
HP:0011844	Abnormal appendicular skeleton morphology	8878	SQSTM1	OMIM:167250
HP:0011844	Abnormal appendicular skeleton morphology	2733	GLE1	ORPHA:1486
HP:0011844	Abnormal appendicular skeleton morphology	128869	PIGU	OMIM:618590
HP:0011844	Abnormal appendicular skeleton morphology	3035	HARS1	ORPHA:488333
HP:0011844	Abnormal appendicular skeleton morphology	51574	LARP7	ORPHA:319671
HP:0011844	Abnormal appendicular skeleton morphology	4914	NTRK1	ORPHA:642
HP:0011844	Abnormal appendicular skeleton morphology	4773	NFATC2	OMIM:620232
HP:0011844	Abnormal appendicular skeleton morphology	87178	PNPT1	ORPHA:319514
HP:0011844	Abnormal appendicular skeleton morphology	2157	F8	ORPHA:169805
HP:0011844	Abnormal appendicular skeleton morphology	4632	MYL1	OMIM:618414
HP:0011844	Abnormal appendicular skeleton morphology	6399	TRAPPC2	ORPHA:93284
HP:0011844	Abnormal appendicular skeleton morphology	1836	SLC26A2	ORPHA:93307
HP:0011844	Abnormal appendicular skeleton morphology	1297	COL9A1	OMIM:614135
HP:0011844	Abnormal appendicular skeleton morphology	1297	COL9A1	ORPHA:166002
HP:0011844	Abnormal appendicular skeleton morphology	1311	COMP	ORPHA:93308
HP:0011844	Abnormal appendicular skeleton morphology	1280	COL2A1	ORPHA:166011
HP:0011844	Abnormal appendicular skeleton morphology	1280	COL2A1	ORPHA:1856
HP:0011844	Abnormal appendicular skeleton morphology	567	B2M	ORPHA:314652
HP:0011844	Abnormal appendicular skeleton morphology	4148	MATN3	ORPHA:93311
HP:0011844	Abnormal appendicular skeleton morphology	4148	MATN3	OMIM:607078
HP:0011844	Abnormal appendicular skeleton morphology	1298	COL9A2	ORPHA:166002
HP:0011844	Abnormal appendicular skeleton morphology	1299	COL9A3	ORPHA:166002
HP:0011844	Abnormal appendicular skeleton morphology	4041	LRP5	ORPHA:2788
HP:0011844	Abnormal appendicular skeleton morphology	64131	XYLT1	ORPHA:1425
HP:0011844	Abnormal appendicular skeleton morphology	124583	CANT1	ORPHA:1425
HP:0011844	Abnormal appendicular skeleton morphology	55790	CSGALNACT1	ORPHA:1425
HP:0011844	Abnormal appendicular skeleton morphology	59341	TRPV4	ORPHA:86820
HP:0011844	Abnormal appendicular skeleton morphology	3549	IHH	ORPHA:63446
HP:0011844	Abnormal appendicular skeleton morphology	6473	SHOX	OMIM:127300
HP:0011844	Abnormal appendicular skeleton morphology	50485	SMARCAL1	ORPHA:1830
HP:0011844	Abnormal appendicular skeleton morphology	54808	DYM	ORPHA:239
HP:0011844	Abnormal appendicular skeleton morphology	84572	GNPTG	OMIM:252605
HP:0011844	Abnormal appendicular skeleton morphology	65992	DDRGK1	OMIM:602557
HP:0011844	Abnormal appendicular skeleton morphology	2990	GUSB	OMIM:253220
HP:0011844	Abnormal appendicular skeleton morphology	755	CFAP410	OMIM:602271
HP:0011844	Abnormal appendicular skeleton morphology	145258	GSC	OMIM:602471
HP:0011844	Abnormal appendicular skeleton morphology	79796	ALG9	ORPHA:79328
HP:0011844	Abnormal appendicular skeleton morphology	79796	ALG9	OMIM:263210
HP:0011844	Abnormal appendicular skeleton morphology	3417	IDH1	ORPHA:99646
HP:0011844	Abnormal appendicular skeleton morphology	375	ARF1	ORPHA:98892
HP:0011844	Abnormal appendicular skeleton morphology	160418	TMTC3	ORPHA:98892
HP:0011844	Abnormal appendicular skeleton morphology	10564	ARFGEF2	ORPHA:98892
HP:0011844	Abnormal appendicular skeleton morphology	368	ABCC6	ORPHA:51608
HP:0011844	Abnormal appendicular skeleton morphology	340533	NEXMIF	OMIM:300912
HP:0011844	Abnormal appendicular skeleton morphology	1139	CHRNA7	ORPHA:199318
HP:0011844	Abnormal appendicular skeleton morphology	1139	CHRNA7	OMIM:612001
HP:0011844	Abnormal appendicular skeleton morphology	2132	EXT2	OMIM:616682
HP:0011844	Abnormal appendicular skeleton morphology	23135	KDM6B	OMIM:618505
HP:0011844	Abnormal appendicular skeleton morphology	6659	SOX4	OMIM:618506
HP:0011844	Abnormal appendicular skeleton morphology	1947	EFNB1	ORPHA:1520
HP:0011844	Abnormal appendicular skeleton morphology	1947	EFNB1	OMIM:304110
HP:0011844	Abnormal appendicular skeleton morphology	4010	LMX1B	ORPHA:2614
HP:0011844	Abnormal appendicular skeleton morphology	4010	LMX1B	OMIM:161200
HP:0011844	Abnormal appendicular skeleton morphology	10054	UBA2	OMIM:619959
HP:0011844	Abnormal appendicular skeleton morphology	51126	NAA20	OMIM:619717
HP:0011844	Abnormal appendicular skeleton morphology	9820	CUL7	ORPHA:2616
HP:0011844	Abnormal appendicular skeleton morphology	9820	CUL7	OMIM:273750
HP:0011844	Abnormal appendicular skeleton morphology	23363	OBSL1	ORPHA:2616
HP:0011844	Abnormal appendicular skeleton morphology	83987	CCDC8	ORPHA:2616
HP:0011844	Abnormal appendicular skeleton morphology	83987	CCDC8	OMIM:614205
HP:0011844	Abnormal appendicular skeleton morphology	7021	TFAP2B	OMIM:169100
HP:0011844	Abnormal appendicular skeleton morphology	7021	TFAP2B	ORPHA:46627
HP:0011844	Abnormal appendicular skeleton morphology	7021	TFAP2B	OMIM:617035
HP:0011844	Abnormal appendicular skeleton morphology	3481	IGF2	ORPHA:231140
HP:0011844	Abnormal appendicular skeleton morphology	3481	IGF2	ORPHA:231144
HP:0011844	Abnormal appendicular skeleton morphology	3481	IGF2	OMIM:616489
HP:0011844	Abnormal appendicular skeleton morphology	3481	IGF2	OMIM:180860
HP:0011844	Abnormal appendicular skeleton morphology	3481	IGF2	ORPHA:397590
HP:0011844	Abnormal appendicular skeleton morphology	283120	H19	ORPHA:231140
HP:0011844	Abnormal appendicular skeleton morphology	283120	H19	ORPHA:231144
HP:0011844	Abnormal appendicular skeleton morphology	197131	UBR1	OMIM:243800
HP:0011844	Abnormal appendicular skeleton morphology	4286	MITF	OMIM:617306
HP:0011844	Abnormal appendicular skeleton morphology	23384	SPECC1L	ORPHA:1519
HP:0011844	Abnormal appendicular skeleton morphology	51098	IFT52	ORPHA:1515
HP:0011844	Abnormal appendicular skeleton morphology	55764	IFT122	ORPHA:1515
HP:0011844	Abnormal appendicular skeleton morphology	57728	WDR19	ORPHA:1515
HP:0011844	Abnormal appendicular skeleton morphology	55636	CHD7	ORPHA:138
HP:0011844	Abnormal appendicular skeleton morphology	9723	SEMA3E	ORPHA:138
HP:0011844	Abnormal appendicular skeleton morphology	90	ACVR1	OMIM:135100
HP:0011844	Abnormal appendicular skeleton morphology	90	ACVR1	ORPHA:337
HP:0011844	Abnormal appendicular skeleton morphology	3190	HNRNPK	OMIM:616580
HP:0011844	Abnormal appendicular skeleton morphology	10606	PAICS	OMIM:619859
HP:0011844	Abnormal appendicular skeleton morphology	1009	CDH11	OMIM:619736
HP:0011844	Abnormal appendicular skeleton morphology	652	BMP4	OMIM:607932
HP:0011844	Abnormal appendicular skeleton morphology	1301	COL11A1	OMIM:228520
HP:0011844	Abnormal appendicular skeleton morphology	1301	COL11A1	OMIM:154780
HP:0011844	Abnormal appendicular skeleton morphology	7291	TWIST1	OMIM:101400
HP:0011844	Abnormal appendicular skeleton morphology	7291	TWIST1	ORPHA:794
HP:0011844	Abnormal appendicular skeleton morphology	3981	LIG4	ORPHA:235
HP:0011844	Abnormal appendicular skeleton morphology	3981	LIG4	ORPHA:99812
HP:0011844	Abnormal appendicular skeleton morphology	3981	LIG4	OMIM:606593
HP:0011844	Abnormal appendicular skeleton morphology	1182	CLCN3	OMIM:619512
HP:0011844	Abnormal appendicular skeleton morphology	85301	COL27A1	OMIM:615155
HP:0011844	Abnormal appendicular skeleton morphology	5048	PAFAH1B1	ORPHA:217385
HP:0011844	Abnormal appendicular skeleton morphology	5048	PAFAH1B1	ORPHA:531
HP:0011844	Abnormal appendicular skeleton morphology	7531	YWHAE	ORPHA:217385
HP:0011844	Abnormal appendicular skeleton morphology	7531	YWHAE	ORPHA:531
HP:0011844	Abnormal appendicular skeleton morphology	2121	EVC	OMIM:193530
HP:0011844	Abnormal appendicular skeleton morphology	2121	EVC	ORPHA:952
HP:0011844	Abnormal appendicular skeleton morphology	132884	EVC2	OMIM:193530
HP:0011844	Abnormal appendicular skeleton morphology	132884	EVC2	ORPHA:952
HP:0011844	Abnormal appendicular skeleton morphology	8364	H4C3	OMIM:619758
HP:0011844	Abnormal appendicular skeleton morphology	5590	PRKCZ	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	2563	GABRD	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	8510	MMP23B	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	7798	LUZP1	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	6497	SKI	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	10630	PDPN	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	3339	HSPG2	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	10277	UBE4B	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	8514	KCNAB2	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	473	RERE	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	473	RERE	OMIM:616975
HP:0011844	Abnormal appendicular skeleton morphology	63976	PRDM16	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	54897	CASZ1	ORPHA:1606
HP:0011844	Abnormal appendicular skeleton morphology	641	BLM	OMIM:210900
HP:0011844	Abnormal appendicular skeleton morphology	57492	ARID1B	ORPHA:251056
HP:0011844	Abnormal appendicular skeleton morphology	57492	ARID1B	OMIM:135900
HP:0011844	Abnormal appendicular skeleton morphology	63895	PIEZO2	ORPHA:376
HP:0011844	Abnormal appendicular skeleton morphology	23314	SATB2	ORPHA:576283
HP:0011844	Abnormal appendicular skeleton morphology	23314	SATB2	ORPHA:251028
HP:0011844	Abnormal appendicular skeleton morphology	23314	SATB2	ORPHA:251019
HP:0011844	Abnormal appendicular skeleton morphology	2239	GPC4	ORPHA:373
HP:0011844	Abnormal appendicular skeleton morphology	2239	GPC4	ORPHA:2662
HP:0011844	Abnormal appendicular skeleton morphology	2719	GPC3	ORPHA:373
HP:0011844	Abnormal appendicular skeleton morphology	23162	MAPK8IP3	OMIM:618443
HP:0011844	Abnormal appendicular skeleton morphology	2317	FLNB	OMIM:272460
HP:0011844	Abnormal appendicular skeleton morphology	79087	ALG12	ORPHA:79324
HP:0011844	Abnormal appendicular skeleton morphology	26100	WIPI2	OMIM:618453
HP:0011844	Abnormal appendicular skeleton morphology	10533	ATG7	OMIM:619422
HP:0011844	Abnormal appendicular skeleton morphology	8295	TRRAP	OMIM:618454
HP:0011844	Abnormal appendicular skeleton morphology	9742	IFT140	OMIM:266920
HP:0011844	Abnormal appendicular skeleton morphology	7227	TRPS1	ORPHA:77258
HP:0011844	Abnormal appendicular skeleton morphology	3479	IGF1	ORPHA:73272
HP:0011844	Abnormal appendicular skeleton morphology	3479	IGF1	OMIM:608747
HP:0011844	Abnormal appendicular skeleton morphology	6477	SIAH1	OMIM:619314
HP:0011844	Abnormal appendicular skeleton morphology	8473	OGT	OMIM:300997
HP:0011844	Abnormal appendicular skeleton morphology	1798	DPAGT1	OMIM:608093
HP:0011844	Abnormal appendicular skeleton morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0011844	Abnormal appendicular skeleton morphology	100151683	RNU4ATAC	OMIM:226960
HP:0011844	Abnormal appendicular skeleton morphology	100151683	RNU4ATAC	OMIM:616651
HP:0011844	Abnormal appendicular skeleton morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011844	Abnormal appendicular skeleton morphology	117581	TWIST2	OMIM:200110
HP:0011844	Abnormal appendicular skeleton morphology	117581	TWIST2	OMIM:209885
HP:0011844	Abnormal appendicular skeleton morphology	23030	KDM4B	OMIM:619320
HP:0011844	Abnormal appendicular skeleton morphology	9126	SMC3	OMIM:610759
HP:0011844	Abnormal appendicular skeleton morphology	9126	SMC3	ORPHA:199
HP:0011844	Abnormal appendicular skeleton morphology	1725	DHPS	OMIM:618480
HP:0011844	Abnormal appendicular skeleton morphology	55777	MBD5	OMIM:156200
HP:0011844	Abnormal appendicular skeleton morphology	55777	MBD5	ORPHA:228402
HP:0011844	Abnormal appendicular skeleton morphology	5980	REV3L	ORPHA:570
HP:0011844	Abnormal appendicular skeleton morphology	23129	PLXND1	ORPHA:570
HP:0011844	Abnormal appendicular skeleton morphology	4784	NFIX	OMIM:602535
HP:0011844	Abnormal appendicular skeleton morphology	4998	ORC1	OMIM:224690
HP:0011844	Abnormal appendicular skeleton morphology	4998	ORC1	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	4052	LTBP1	OMIM:619451
HP:0011844	Abnormal appendicular skeleton morphology	8260	NAA10	OMIM:300855
HP:0011844	Abnormal appendicular skeleton morphology	8260	NAA10	ORPHA:568
HP:0011844	Abnormal appendicular skeleton morphology	9496	TBX4	ORPHA:261279
HP:0011844	Abnormal appendicular skeleton morphology	8091	HMGA2	ORPHA:94063
HP:0011844	Abnormal appendicular skeleton morphology	8091	HMGA2	ORPHA:397590
HP:0011844	Abnormal appendicular skeleton morphology	23592	LEMD3	ORPHA:94063
HP:0011844	Abnormal appendicular skeleton morphology	5283	PIGH	OMIM:618010
HP:0011844	Abnormal appendicular skeleton morphology	50801	KCNK4	OMIM:618381
HP:0011844	Abnormal appendicular skeleton morphology	57003	CCDC47	OMIM:618268
HP:0011844	Abnormal appendicular skeleton morphology	5977	DPF2	OMIM:618027
HP:0011844	Abnormal appendicular skeleton morphology	94005	PIGS	OMIM:618143
HP:0011844	Abnormal appendicular skeleton morphology	145173	B3GLCT	OMIM:261540
HP:0011844	Abnormal appendicular skeleton morphology	145173	B3GLCT	ORPHA:709
HP:0011844	Abnormal appendicular skeleton morphology	285590	SH3PXD2B	ORPHA:137834
HP:0011844	Abnormal appendicular skeleton morphology	526	ATP6V1B2	ORPHA:79500
HP:0011844	Abnormal appendicular skeleton morphology	57465	TBC1D24	ORPHA:79500
HP:0011844	Abnormal appendicular skeleton morphology	57465	TBC1D24	OMIM:220500
HP:0011844	Abnormal appendicular skeleton morphology	5728	PTEN	ORPHA:744
HP:0011844	Abnormal appendicular skeleton morphology	207	AKT1	ORPHA:744
HP:0011844	Abnormal appendicular skeleton morphology	2887	GRB10	ORPHA:96182
HP:0011844	Abnormal appendicular skeleton morphology	1457	CSNK2A1	OMIM:617062
HP:0011844	Abnormal appendicular skeleton morphology	51715	RAB23	OMIM:201000
HP:0011844	Abnormal appendicular skeleton morphology	28952	CCDC22	OMIM:300963
HP:0011844	Abnormal appendicular skeleton morphology	90416	CCDC32	OMIM:619123
HP:0011844	Abnormal appendicular skeleton morphology	8450	CUL4B	ORPHA:85293
HP:0011844	Abnormal appendicular skeleton morphology	55717	WDR11	OMIM:620237
HP:0011844	Abnormal appendicular skeleton morphology	118924	FRA10AC1	OMIM:620113
HP:0011844	Abnormal appendicular skeleton morphology	22995	CEP152	OMIM:613823
HP:0011844	Abnormal appendicular skeleton morphology	22995	CEP152	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	3090	HIC1	ORPHA:531
HP:0011844	Abnormal appendicular skeleton morphology	10436	EMG1	OMIM:211180
HP:0011844	Abnormal appendicular skeleton morphology	10436	EMG1	ORPHA:1270
HP:0011844	Abnormal appendicular skeleton morphology	10084	PQBP1	OMIM:309500
HP:0011844	Abnormal appendicular skeleton morphology	5745	PTH1R	OMIM:156400
HP:0011844	Abnormal appendicular skeleton morphology	89970	RSPRY1	ORPHA:457395
HP:0011844	Abnormal appendicular skeleton morphology	9487	PIGL	OMIM:280000
HP:0011844	Abnormal appendicular skeleton morphology	22800	RRAS2	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	867	CBL	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	8216	LZTR1	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	6016	RIT1	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	6237	RRAS	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	5894	RAF1	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	22808	MRAS	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	3845	KRAS	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	200734	SPRED2	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	4893	NRAS	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	6654	SOS1	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	6655	SOS2	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	5781	PTPN11	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	5922	RASA2	ORPHA:648
HP:0011844	Abnormal appendicular skeleton morphology	23522	KAT6B	ORPHA:3047
HP:0011844	Abnormal appendicular skeleton morphology	79023	NUP37	OMIM:618179
HP:0011844	Abnormal appendicular skeleton morphology	375056	MIA3	OMIM:619269
HP:0011844	Abnormal appendicular skeleton morphology	27161	AGO2	OMIM:619149
HP:0011844	Abnormal appendicular skeleton morphology	5567	PRKACB	OMIM:619143
HP:0011844	Abnormal appendicular skeleton morphology	221927	BRAT1	OMIM:618056
HP:0011844	Abnormal appendicular skeleton morphology	8823	FGF16	OMIM:309630
HP:0011844	Abnormal appendicular skeleton morphology	5518	PPP2R1A	ORPHA:457284
HP:0011844	Abnormal appendicular skeleton morphology	161742	SPRED1	ORPHA:137605
HP:0011844	Abnormal appendicular skeleton morphology	7337	UBE3A	ORPHA:238446
HP:0011844	Abnormal appendicular skeleton morphology	1832	DSP	ORPHA:158687
HP:0011844	Abnormal appendicular skeleton morphology	1832	DSP	OMIM:609638
HP:0011844	Abnormal appendicular skeleton morphology	3728	JUP	ORPHA:158687
HP:0011844	Abnormal appendicular skeleton morphology	23241	PACS2	OMIM:618067
HP:0011844	Abnormal appendicular skeleton morphology	7518	XRCC4	ORPHA:99812
HP:0011844	Abnormal appendicular skeleton morphology	3209	HOXA13	OMIM:140000
HP:0011844	Abnormal appendicular skeleton morphology	3209	HOXA13	ORPHA:2438
HP:0011844	Abnormal appendicular skeleton morphology	613	BCR	ORPHA:261330
HP:0011844	Abnormal appendicular skeleton morphology	1399	CRKL	ORPHA:261330
HP:0011844	Abnormal appendicular skeleton morphology	89910	UBE3B	OMIM:244450
HP:0011844	Abnormal appendicular skeleton morphology	2314	FLII	ORPHA:819
HP:0011844	Abnormal appendicular skeleton morphology	23096	IQSEC2	ORPHA:819
HP:0011844	Abnormal appendicular skeleton morphology	10522	DEAF1	ORPHA:819
HP:0011844	Abnormal appendicular skeleton morphology	150468	CKAP2L	ORPHA:3255
HP:0011844	Abnormal appendicular skeleton morphology	9184	BUB3	ORPHA:1052
HP:0011844	Abnormal appendicular skeleton morphology	699	BUB1	ORPHA:1052
HP:0011844	Abnormal appendicular skeleton morphology	699	BUB1	OMIM:620183
HP:0011844	Abnormal appendicular skeleton morphology	9702	CEP57	ORPHA:1052
HP:0011844	Abnormal appendicular skeleton morphology	9702	CEP57	OMIM:614114
HP:0011844	Abnormal appendicular skeleton morphology	9319	TRIP13	ORPHA:1052
HP:0011844	Abnormal appendicular skeleton morphology	701	BUB1B	ORPHA:1052
HP:0011844	Abnormal appendicular skeleton morphology	54476	RNF216	ORPHA:1173
HP:0011844	Abnormal appendicular skeleton morphology	10908	PNPLA6	ORPHA:1173
HP:0011844	Abnormal appendicular skeleton morphology	23036	ZNF292	OMIM:619188
HP:0011844	Abnormal appendicular skeleton morphology	51199	NIN	OMIM:614851
HP:0011844	Abnormal appendicular skeleton morphology	51199	NIN	ORPHA:319675
HP:0011844	Abnormal appendicular skeleton morphology	1954	MEGF8	OMIM:614976
HP:0011844	Abnormal appendicular skeleton morphology	1857	DVL3	ORPHA:3107
HP:0011844	Abnormal appendicular skeleton morphology	7474	WNT5A	ORPHA:3107
HP:0011844	Abnormal appendicular skeleton morphology	1855	DVL1	ORPHA:3107
HP:0011844	Abnormal appendicular skeleton morphology	2535	FZD2	ORPHA:3107
HP:0011844	Abnormal appendicular skeleton morphology	2535	FZD2	OMIM:164745
HP:0011844	Abnormal appendicular skeleton morphology	26053	AUTS2	OMIM:615834
HP:0011844	Abnormal appendicular skeleton morphology	2122	MECOM	ORPHA:71289
HP:0011844	Abnormal appendicular skeleton morphology	3207	HOXA11	ORPHA:71289
HP:0011844	Abnormal appendicular skeleton morphology	3207	HOXA11	OMIM:605432
HP:0011844	Abnormal appendicular skeleton morphology	81031	SLC2A10	ORPHA:3342
HP:0011844	Abnormal appendicular skeleton morphology	10236	HNRNPR	OMIM:620073
HP:0011844	Abnormal appendicular skeleton morphology	1028	CDKN1C	ORPHA:397590
HP:0011844	Abnormal appendicular skeleton morphology	5324	PLAG1	ORPHA:397590
HP:0011844	Abnormal appendicular skeleton morphology	9555	MACROH2A1	ORPHA:1275
HP:0011844	Abnormal appendicular skeleton morphology	5307	PITX1	ORPHA:1275
HP:0011844	Abnormal appendicular skeleton morphology	5422	POLA1	ORPHA:163976
HP:0011844	Abnormal appendicular skeleton morphology	5422	POLA1	OMIM:301030
HP:0011844	Abnormal appendicular skeleton morphology	55906	ZC4H2	ORPHA:3454
HP:0011844	Abnormal appendicular skeleton morphology	10430	TMEM147	OMIM:620075
HP:0011844	Abnormal appendicular skeleton morphology	3187	HNRNPH1	OMIM:620083
HP:0011844	Abnormal appendicular skeleton morphology	23414	ZFPM2	OMIM:187500
HP:0011844	Abnormal appendicular skeleton morphology	23414	ZFPM2	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	1482	NKX2-5	OMIM:187500
HP:0011844	Abnormal appendicular skeleton morphology	1482	NKX2-5	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	182	JAG1	OMIM:187500
HP:0011844	Abnormal appendicular skeleton morphology	182	JAG1	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	6899	TBX1	OMIM:187500
HP:0011844	Abnormal appendicular skeleton morphology	6899	TBX1	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	2627	GATA6	OMIM:187500
HP:0011844	Abnormal appendicular skeleton morphology	2627	GATA6	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	545	ATR	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	545	ATR	OMIM:210600
HP:0011844	Abnormal appendicular skeleton morphology	1062	CENPE	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	5116	PCNT	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	5116	PCNT	OMIM:210720
HP:0011844	Abnormal appendicular skeleton morphology	5116	PCNT	ORPHA:2637
HP:0011844	Abnormal appendicular skeleton morphology	79902	NUP85	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	84126	ATRIP	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	55835	CENPJ	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	10293	TRAIP	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	10733	PLK4	ORPHA:808
HP:0011844	Abnormal appendicular skeleton morphology	29123	ANKRD11	OMIM:148050
HP:0011844	Abnormal appendicular skeleton morphology	9775	EIF4A3	OMIM:268305
HP:0011844	Abnormal appendicular skeleton morphology	2702	GJA5	OMIM:612474
HP:0011844	Abnormal appendicular skeleton morphology	2702	GJA5	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	2703	GJA8	OMIM:612474
HP:0011844	Abnormal appendicular skeleton morphology	55690	PACS1	ORPHA:329224
HP:0011844	Abnormal appendicular skeleton morphology	22856	CHSY1	ORPHA:363417
HP:0011844	Abnormal appendicular skeleton morphology	51621	KLF13	OMIM:612001
HP:0011844	Abnormal appendicular skeleton morphology	5648	MASP1	OMIM:257920
HP:0011844	Abnormal appendicular skeleton morphology	11133	KPTN	OMIM:615637
HP:0011844	Abnormal appendicular skeleton morphology	11133	KPTN	ORPHA:397612
HP:0011844	Abnormal appendicular skeleton morphology	137814	NKX2-6	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	3791	KDR	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	2657	GDF1	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	140628	GATA5	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	2324	FLT4	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	10370	CITED2	ORPHA:3303
HP:0011844	Abnormal appendicular skeleton morphology	2334	AFF2	ORPHA:100973
HP:0011844	Abnormal appendicular skeleton morphology	10847	SRCAP	OMIM:136140
HP:0011844	Abnormal appendicular skeleton morphology	84679	SLC9A7	OMIM:301024
HP:0011844	Abnormal appendicular skeleton morphology	10735	STAG2	OMIM:301022
HP:0011844	Abnormal appendicular skeleton morphology	5925	RB1	ORPHA:1587
HP:0011844	Abnormal appendicular skeleton morphology	7874	USP7	OMIM:616863
HP:0011844	Abnormal appendicular skeleton morphology	81620	CDT1	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	5000	ORC4	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	23594	ORC6	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	990	CDC6	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	51053	GMNN	ORPHA:2554
HP:0011844	Abnormal appendicular skeleton morphology	25	ABL1	OMIM:617602
HP:0011844	Abnormal appendicular skeleton morphology	29980	DONSON	OMIM:617604
HP:0011844	Abnormal appendicular skeleton morphology	6638	SNRPN	ORPHA:177907
HP:0011844	Abnormal appendicular skeleton morphology	23476	BRD4	ORPHA:199
HP:0011844	Abnormal appendicular skeleton morphology	22931	RAB18	OMIM:614222
HP:0011844	Abnormal appendicular skeleton morphology	490	ATP2B1	OMIM:619910
HP:0011844	Abnormal appendicular skeleton morphology	54870	QRICH1	OMIM:617982
HP:0011844	Abnormal appendicular skeleton morphology	139285	AMER1	OMIM:300373
HP:0011844	Abnormal appendicular skeleton morphology	4841	NONO	ORPHA:466791
HP:0011844	Abnormal appendicular skeleton morphology	2186	BPTF	OMIM:617755
HP:0011844	Abnormal appendicular skeleton morphology	10225	CD96	ORPHA:1308
HP:0011844	Abnormal appendicular skeleton morphology	4204	MECP2	OMIM:300260
HP:0011844	Abnormal appendicular skeleton morphology	55553	SOX6	OMIM:618971
HP:0011844	Abnormal appendicular skeleton morphology	84148	KAT8	OMIM:618974
HP:0011844	Abnormal appendicular skeleton morphology	58499	ZNF462	OMIM:618619
HP:0011844	Abnormal appendicular skeleton morphology	6598	SMARCB1	OMIM:614608
HP:0011844	Abnormal appendicular skeleton morphology	8838	CCN6	ORPHA:1159
HP:0011844	Abnormal appendicular skeleton morphology	3480	IGF1R	ORPHA:73273
HP:0011844	Abnormal appendicular skeleton morphology	4921	DDR2	OMIM:271665
HP:0011844	Abnormal appendicular skeleton morphology	124997	WDR81	OMIM:610185
HP:0011844	Abnormal appendicular skeleton morphology	79639	TMEM53	OMIM:619727
HP:0011844	Abnormal appendicular skeleton morphology	25782	RAB3GAP2	OMIM:212720
HP:0011844	Abnormal appendicular skeleton morphology	1778	DYNC1H1	OMIM:614563
HP:0011844	Abnormal appendicular skeleton morphology	80311	KLHL15	OMIM:300982
HP:0011844	Abnormal appendicular skeleton morphology	55012	PPP2R3C	OMIM:618419
HP:0011844	Abnormal appendicular skeleton morphology	10013	HDAC6	ORPHA:163966
HP:0011844	Abnormal appendicular skeleton morphology	9719	ADAMTSL2	OMIM:231050
HP:0011844	Abnormal appendicular skeleton morphology	79718	TBL1XR1	OMIM:602342
HP:0011844	Abnormal appendicular skeleton morphology	28957	MRPS28	OMIM:618958
HP:0011844	Abnormal appendicular skeleton morphology	23261	CAMTA1	OMIM:614756
HP:0011844	Abnormal appendicular skeleton morphology	25839	COG4	ORPHA:85172
HP:0011844	Abnormal appendicular skeleton morphology	8813	DPM1	OMIM:608799
HP:0011844	Abnormal appendicular skeleton morphology	147372	CCBE1	OMIM:235510
HP:0011844	Abnormal appendicular skeleton morphology	579	NKX3-2	OMIM:613330
HP:0011844	Abnormal appendicular skeleton morphology	1302	COL11A2	OMIM:215150
HP:0011844	Abnormal appendicular skeleton morphology	3094	HINT1	ORPHA:324442
HP:0011844	Abnormal appendicular skeleton morphology	2879	GPX4	OMIM:250220
HP:0011844	Abnormal appendicular skeleton morphology	5191	PEX7	OMIM:266500
HP:0011844	Abnormal appendicular skeleton morphology	5264	PHYH	OMIM:266500
HP:0011844	Abnormal appendicular skeleton morphology	54585	LZTFL1	OMIM:615994
HP:0011844	Abnormal appendicular skeleton morphology	55628	ZNF407	OMIM:619557
HP:0011844	Abnormal appendicular skeleton morphology	2146	EZH2	OMIM:277590
HP:0011844	Abnormal appendicular skeleton morphology	79633	FAT4	OMIM:615546
HP:0011844	Abnormal appendicular skeleton morphology	8642	DCHS1	OMIM:601390
HP:0011844	Abnormal appendicular skeleton morphology	54496	PRMT7	ORPHA:464288
HP:0011844	Abnormal appendicular skeleton morphology	10682	EBP	ORPHA:401973
HP:0011844	Abnormal appendicular skeleton morphology	10682	EBP	OMIM:300960
HP:0011844	Abnormal appendicular skeleton morphology	650	BMP2	OMIM:112600
HP:0011844	Abnormal appendicular skeleton morphology	11253	MAN1B1	ORPHA:397941
HP:0011844	Abnormal appendicular skeleton morphology	23394	ADNP	ORPHA:404448
HP:0011844	Abnormal appendicular skeleton morphology	5898	RALA	OMIM:619311
HP:0011844	Abnormal appendicular skeleton morphology	8294	H4C9	OMIM:619951
HP:0011844	Abnormal appendicular skeleton morphology	8506	CNTNAP1	OMIM:618186
HP:0011844	Abnormal appendicular skeleton morphology	4683	NBN	OMIM:251260
HP:0011844	Abnormal appendicular skeleton morphology	5885	RAD21	OMIM:614701
HP:0011844	Abnormal appendicular skeleton morphology	81857	MED25	OMIM:616449
HP:0011844	Abnormal appendicular skeleton morphology	81857	MED25	ORPHA:464738
HP:0011844	Abnormal appendicular skeleton morphology	10586	MAB21L2	OMIM:615877
HP:0011844	Abnormal appendicular skeleton morphology	8854	ALDH1A2	OMIM:620025
HP:0011844	Abnormal appendicular skeleton morphology	10274	STAG1	ORPHA:502434
HP:0011844	Abnormal appendicular skeleton morphology	85358	SHANK3	OMIM:606232
HP:0011844	Abnormal appendicular skeleton morphology	64324	NSD1	ORPHA:821
HP:0011844	Abnormal appendicular skeleton morphology	29072	SETD2	ORPHA:821
HP:0011844	Abnormal appendicular skeleton morphology	10297	APC2	ORPHA:821
HP:0011844	Abnormal appendicular skeleton morphology	55209	SETD5	ORPHA:404440
HP:0011844	Abnormal appendicular skeleton morphology	10743	RAI1	ORPHA:477817
HP:0011844	Abnormal appendicular skeleton morphology	23291	FBXW11	OMIM:618914
HP:0011844	Abnormal appendicular skeleton morphology	10982	MAPRE2	OMIM:616734
HP:0011844	Abnormal appendicular skeleton morphology	4297	KMT2A	OMIM:605130
HP:0011844	Abnormal appendicular skeleton morphology	6660	SOX5	ORPHA:313892
HP:0011844	Abnormal appendicular skeleton morphology	54880	BCOR	ORPHA:2712
HP:0011844	Abnormal appendicular skeleton morphology	54880	BCOR	OMIM:300166
HP:0011844	Abnormal appendicular skeleton morphology	51057	WDPCP	OMIM:217085
HP:0011844	Abnormal appendicular skeleton morphology	9241	NOG	OMIM:186500
HP:0011844	Abnormal appendicular skeleton morphology	7319	UBE2A	OMIM:300860
HP:0011844	Abnormal appendicular skeleton morphology	10087	CERT1	OMIM:616351
HP:0011844	Abnormal appendicular skeleton morphology	372	ARCN1	OMIM:617164
HP:0011844	Abnormal appendicular skeleton morphology	164	AP1G1	OMIM:619467
HP:0011844	Abnormal appendicular skeleton morphology	1656	DDX6	OMIM:618653
HP:0011844	Abnormal appendicular skeleton morphology	4212	MEIS2	OMIM:600987
HP:0011844	Abnormal appendicular skeleton morphology	23327	NEDD4L	OMIM:617201
HP:0011844	Abnormal appendicular skeleton morphology	5147	PDE6D	OMIM:615665
HP:0011844	Abnormal appendicular skeleton morphology	57178	ZMIZ1	OMIM:618659
HP:0011844	Abnormal appendicular skeleton morphology	93627	TBCK	ORPHA:488632
HP:0011844	Abnormal appendicular skeleton morphology	6304	SATB1	OMIM:619229
HP:0011844	Abnormal appendicular skeleton morphology	80185	TTI2	ORPHA:391307
HP:0011844	Abnormal appendicular skeleton morphology	26160	IFT172	OMIM:619471
HP:0011844	Abnormal appendicular skeleton morphology	10664	CTCF	ORPHA:363611
HP:0011844	Abnormal appendicular skeleton morphology	3590	IL11RA	OMIM:614188
HP:0011844	Abnormal appendicular skeleton morphology	55165	CEP55	OMIM:236500
HP:0011844	Abnormal appendicular skeleton morphology	84992	PIGY	OMIM:616809
HP:0011844	Abnormal appendicular skeleton morphology	10907	TXNL4A	OMIM:608572
HP:0011844	Abnormal appendicular skeleton morphology	284252	KCTD1	OMIM:181270
HP:0011844	Abnormal appendicular skeleton morphology	6558	SLC12A2	OMIM:619080
HP:0011844	Abnormal appendicular skeleton morphology	7204	TRIO	OMIM:617061
HP:0011844	Abnormal appendicular skeleton morphology	7204	TRIO	ORPHA:476126
HP:0011844	Abnormal appendicular skeleton morphology	2222	FDFT1	OMIM:618156
HP:0011844	Abnormal appendicular skeleton morphology	4089	SMAD4	OMIM:139210
HP:0011844	Abnormal appendicular skeleton morphology	6857	SYT1	ORPHA:522077
HP:0011844	Abnormal appendicular skeleton morphology	6472	SHMT2	OMIM:619121
HP:0011844	Abnormal appendicular skeleton morphology	112752	IFT43	OMIM:617866
HP:0011844	Abnormal appendicular skeleton morphology	112752	IFT43	OMIM:614099
HP:0011844	Abnormal appendicular skeleton morphology	57570	TRMT5	OMIM:616539
HP:0011844	Abnormal appendicular skeleton morphology	23529	CLCF1	OMIM:610313
HP:0011844	Abnormal appendicular skeleton morphology	11128	POLR3A	ORPHA:3455
HP:0011844	Abnormal appendicular skeleton morphology	745	MYRF	OMIM:618280
HP:0011844	Abnormal appendicular skeleton morphology	23387	SIK3	OMIM:618162
HP:0011844	Abnormal appendicular skeleton morphology	10020	GNE	OMIM:269921
HP:0011844	Abnormal appendicular skeleton morphology	10020	GNE	ORPHA:3166
HP:0011844	Abnormal appendicular skeleton morphology	1663	DDX11	OMIM:613398
HP:0011844	Abnormal appendicular skeleton morphology	5718	PSMD12	OMIM:617516
HP:0011844	Abnormal appendicular skeleton morphology	9757	KMT2B	OMIM:619934
HP:0011844	Abnormal appendicular skeleton morphology	4848	CNOT2	OMIM:618608
HP:0011844	Abnormal appendicular skeleton morphology	55023	PHIP	ORPHA:589905
HP:0011844	Abnormal appendicular skeleton morphology	341208	HEPHL1	OMIM:261990
HP:0011844	Abnormal appendicular skeleton morphology	55212	BBS7	OMIM:615984
HP:0011844	Abnormal appendicular skeleton morphology	4208	MEF2C	OMIM:613443
HP:0011844	Abnormal appendicular skeleton morphology	3720	JARID2	OMIM:620098
HP:0011844	Abnormal appendicular skeleton morphology	3762	KCNJ5	ORPHA:37553
HP:0011844	Abnormal appendicular skeleton morphology	3759	KCNJ2	ORPHA:37553
HP:0011844	Abnormal appendicular skeleton morphology	9990	SLC12A6	OMIM:218000
HP:0011844	Abnormal appendicular skeleton morphology	4613	MYCN	ORPHA:391641
HP:0011844	Abnormal appendicular skeleton morphology	4613	MYCN	OMIM:164280
HP:0011844	Abnormal appendicular skeleton morphology	6913	TBX15	OMIM:260660
HP:0011844	Abnormal appendicular skeleton morphology	54888	NSUN2	OMIM:611091
HP:0011844	Abnormal appendicular skeleton morphology	50814	NSDHL	OMIM:308050
HP:0011844	Abnormal appendicular skeleton morphology	92002	CCNQ	OMIM:300707
HP:0011844	Abnormal appendicular skeleton morphology	81607	NECTIN4	OMIM:613573
HP:0011844	Abnormal appendicular skeleton morphology	9894	TELO2	ORPHA:488642
HP:0011844	Abnormal appendicular skeleton morphology	5932	RBBP8	OMIM:251255
HP:0011844	Abnormal appendicular skeleton morphology	6628	SNRPB	OMIM:117650
HP:0011844	Abnormal appendicular skeleton morphology	415	ARSL	ORPHA:79345
HP:0011844	Abnormal appendicular skeleton morphology	2629	GBA1	OMIM:230800
HP:0011844	Abnormal appendicular skeleton morphology	5660	PSAP	OMIM:610539
HP:0011844	Abnormal appendicular skeleton morphology	1594	CYP27B1	ORPHA:289157
HP:0011844	Abnormal appendicular skeleton morphology	120227	CYP2R1	ORPHA:289157
HP:0011844	Abnormal appendicular skeleton morphology	203859	ANO5	OMIM:166260
HP:0011844	Abnormal appendicular skeleton morphology	4507	MTAP	OMIM:112250
HP:0011844	Abnormal appendicular skeleton morphology	55503	TRPV6	OMIM:618188
HP:0011844	Abnormal appendicular skeleton morphology	4982	TNFRSF11B	OMIM:239000
HP:0011844	Abnormal appendicular skeleton morphology	1758	DMP1	ORPHA:289176
HP:0011844	Abnormal appendicular skeleton morphology	5167	ENPP1	ORPHA:289176
HP:0011844	Abnormal appendicular skeleton morphology	84265	POLR3GL	OMIM:619234
HP:0011844	Abnormal appendicular skeleton morphology	1327	COX4I1	OMIM:619060
HP:0011844	Abnormal appendicular skeleton morphology	1147	CHUK	OMIM:619339
HP:0011844	Abnormal appendicular skeleton morphology	10079	ATP9A	OMIM:620242
HP:0011844	Abnormal appendicular skeleton morphology	26277	TINF2	OMIM:613990
HP:0011844	Abnormal appendicular skeleton morphology	9652	SKIC3	OMIM:222470
HP:0011844	Abnormal appendicular skeleton morphology	11277	TREX1	ORPHA:247691
HP:0011844	Abnormal appendicular skeleton morphology	8540	AGPS	OMIM:600121
HP:0011844	Abnormal appendicular skeleton morphology	11160	ERLIN2	ORPHA:209951
HP:0011844	Abnormal appendicular skeleton morphology	22978	NT5C2	ORPHA:320396
HP:0011844	Abnormal appendicular skeleton morphology	1984	EIF5A	OMIM:619376
HP:0011844	Abnormal appendicular skeleton morphology	4617	MYF5	OMIM:618155
HP:0011844	Abnormal appendicular skeleton morphology	51305	KCNK9	ORPHA:166108
HP:0011844	Abnormal appendicular skeleton morphology	825	CAPN3	ORPHA:267
HP:0011844	Abnormal appendicular skeleton morphology	113179	ADAT3	ORPHA:363528
HP:0011844	Abnormal appendicular skeleton morphology	4318	MMP9	ORPHA:1040
HP:0011844	Abnormal appendicular skeleton morphology	7305	TYROBP	ORPHA:2770
HP:0011844	Abnormal appendicular skeleton morphology	54209	TREM2	ORPHA:2770
HP:0011844	Abnormal appendicular skeleton morphology	3425	IDUA	ORPHA:93473
HP:0011844	Abnormal appendicular skeleton morphology	29887	SNX10	ORPHA:667
HP:0011844	Abnormal appendicular skeleton morphology	8600	TNFSF11	ORPHA:667
HP:0011844	Abnormal appendicular skeleton morphology	7253	TSHR	ORPHA:90673
HP:0011844	Abnormal appendicular skeleton morphology	7252	TSHB	ORPHA:90674
HP:0011844	Abnormal appendicular skeleton morphology	55670	PEX26	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5824	PEX19	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5828	PEX2	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	8504	PEX3	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	9409	PEX16	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5190	PEX6	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	8799	PEX11B	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5189	PEX1	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5193	PEX12	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5194	PEX13	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5195	PEX14	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	5192	PEX10	ORPHA:772
HP:0011844	Abnormal appendicular skeleton morphology	405753	DUOXA2	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	6528	SLC5A5	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	7038	TG	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	7173	TPO	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	389434	IYD	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	50506	DUOX2	ORPHA:95716
HP:0011844	Abnormal appendicular skeleton morphology	3248	HPGD	ORPHA:2796
HP:0011844	Abnormal appendicular skeleton morphology	84695	LOXL3	ORPHA:250984
HP:0011844	Abnormal appendicular skeleton morphology	9365	KL	OMIM:617994
HP:0011844	Abnormal appendicular skeleton morphology	128674	PROKR2	OMIM:244200
HP:0011844	Abnormal appendicular skeleton morphology	22861	NLRP1	OMIM:615225
HP:0011844	Abnormal appendicular skeleton morphology	2332	FMR1	OMIM:300624
HP:0011844	Abnormal appendicular skeleton morphology	341640	FREM2	ORPHA:2052
HP:0011844	Abnormal appendicular skeleton morphology	80144	FRAS1	ORPHA:2052
HP:0011844	Abnormal appendicular skeleton morphology	23426	GRIP1	ORPHA:2052
HP:0011844	Abnormal appendicular skeleton morphology	9790	BMS1	ORPHA:1114
HP:0011844	Abnormal appendicular skeleton morphology	5339	PLEC	ORPHA:1114
HP:0011844	Abnormal appendicular skeleton morphology	3691	ITGB4	ORPHA:1114
HP:0011844	Abnormal appendicular skeleton morphology	5818	NECTIN1	ORPHA:3253
HP:0011844	Abnormal appendicular skeleton morphology	1500	CTNND1	ORPHA:1997
HP:0011844	Abnormal appendicular skeleton morphology	134701	RIPPLY2	ORPHA:2311
HP:0011844	Abnormal appendicular skeleton morphology	10683	DLL3	ORPHA:2311
HP:0011844	Abnormal appendicular skeleton morphology	84667	HES7	ORPHA:2311
HP:0011844	Abnormal appendicular skeleton morphology	145873	MESP2	ORPHA:2311
HP:0011844	Abnormal appendicular skeleton morphology	1501	CTNND2	ORPHA:281
HP:0011844	Abnormal appendicular skeleton morphology	9037	SEMA5A	ORPHA:281
HP:0011844	Abnormal appendicular skeleton morphology	9508	ADAMTS3	ORPHA:2136
HP:0011844	Abnormal appendicular skeleton morphology	8517	IKBKG	ORPHA:464
HP:0011844	Abnormal appendicular skeleton morphology	29968	PSAT1	OMIM:616038
HP:0011844	Abnormal appendicular skeleton morphology	3376	IARS1	ORPHA:541423
HP:0011844	Abnormal appendicular skeleton morphology	6583	SLC22A4	OMIM:180300
HP:0011844	Abnormal appendicular skeleton morphology	4261	CIITA	OMIM:180300
HP:0011844	Abnormal appendicular skeleton morphology	51744	CD244	OMIM:180300
HP:0011844	Abnormal appendicular skeleton morphology	4795	NFKBIL1	OMIM:180300
HP:0011844	Abnormal appendicular skeleton morphology	3586	IL10	OMIM:180300
HP:0011844	Abnormal appendicular skeleton morphology	26278	SACS	OMIM:270550
HP:0011844	Abnormal appendicular skeleton morphology	7466	WFS1	OMIM:222300
HP:0011844	Abnormal appendicular skeleton morphology	54829	ASPN	OMIM:607850
HP:0011844	Abnormal appendicular skeleton morphology	9871	SEC24D	ORPHA:2050
HP:0011844	Abnormal appendicular skeleton morphology	5034	P4HB	ORPHA:2050
HP:0011844	Abnormal appendicular skeleton morphology	2720	GLB1	ORPHA:79255
HP:0011844	Abnormal appendicular skeleton morphology	56172	ANKH	OMIM:123000
HP:0011844	Abnormal appendicular skeleton morphology	249	ALPL	OMIM:241500
HP:0011844	Abnormal appendicular skeleton morphology	5479	PPIB	OMIM:259440
HP:0011844	Abnormal appendicular skeleton morphology	3911	LAMA5	OMIM:620076
HP:0011844	Abnormal appendicular skeleton morphology	2767	GNA11	ORPHA:1556
HP:0011844	Abnormal appendicular skeleton morphology	151188	ARL6IP6	ORPHA:1556
HP:0011844	Abnormal appendicular skeleton morphology	51025	PAM16	OMIM:613320
HP:0011844	Abnormal appendicular skeleton morphology	4322	MMP13	OMIM:250400
HP:0011844	Abnormal appendicular skeleton morphology	4322	MMP13	ORPHA:2501
HP:0011844	Abnormal appendicular skeleton morphology	1300	COL10A1	OMIM:156500
HP:0011844	Abnormal appendicular skeleton morphology	55325	UFSP2	ORPHA:2114
HP:0011844	Abnormal appendicular skeleton morphology	55325	UFSP2	OMIM:142669
HP:0011844	Abnormal appendicular skeleton morphology	83452	RAB33B	OMIM:615222
HP:0011844	Abnormal appendicular skeleton morphology	9382	COG1	OMIM:611209
HP:0011844	Abnormal appendicular skeleton morphology	5251	PHEX	OMIM:307800
HP:0011844	Abnormal appendicular skeleton morphology	5251	PHEX	ORPHA:89936
HP:0011844	Abnormal appendicular skeleton morphology	6812	STXBP1	ORPHA:495818
HP:0011844	Abnormal appendicular skeleton morphology	64682	ANAPC1	ORPHA:221008
HP:0011844	Abnormal appendicular skeleton morphology	1277	COL1A1	ORPHA:1310
HP:0011844	Abnormal appendicular skeleton morphology	1277	COL1A1	OMIM:114000
HP:0011844	Abnormal appendicular skeleton morphology	6578	SLCO2A1	OMIM:167100
HP:0011844	Abnormal appendicular skeleton morphology	6678	SPARC	OMIM:616507
HP:0011844	Abnormal appendicular skeleton morphology	6905	TBCE	ORPHA:93324
HP:0011844	Abnormal appendicular skeleton morphology	79879	CCDC134	OMIM:619795
HP:0011844	Abnormal appendicular skeleton morphology	55603	TENT5A	OMIM:617952
HP:0011844	Abnormal appendicular skeleton morphology	5352	PLOD2	ORPHA:2771
HP:0011844	Abnormal appendicular skeleton morphology	6514	SLC2A2	ORPHA:2088
HP:0011844	Abnormal appendicular skeleton morphology	5921	RASA1	ORPHA:90307
HP:0011844	Abnormal appendicular skeleton morphology	7157	TP53	ORPHA:668
HP:0011844	Abnormal appendicular skeleton morphology	11200	CHEK2	ORPHA:668
HP:0011844	Abnormal appendicular skeleton morphology	163175	LGI4	OMIM:617468
HP:0011844	Abnormal appendicular skeleton morphology	84342	COG8	OMIM:611182
HP:0011844	Abnormal appendicular skeleton morphology	2074	ERCC6	OMIM:214150
HP:0011844	Abnormal appendicular skeleton morphology	9451	EIF2AK3	OMIM:226980
HP:0011844	Abnormal appendicular skeleton morphology	10804	GJB6	ORPHA:477
HP:0011844	Abnormal appendicular skeleton morphology	2706	GJB2	ORPHA:477
HP:0011844	Abnormal appendicular skeleton morphology	3032	HADHB	ORPHA:746
HP:0011844	Abnormal appendicular skeleton morphology	3030	HADHA	ORPHA:746
HP:0011844	Abnormal appendicular skeleton morphology	3236	HOXD10	OMIM:192950
HP:0011844	Abnormal appendicular skeleton morphology	2273	FHL1	OMIM:300280
HP:0011844	Abnormal appendicular skeleton morphology	57477	SHROOM4	ORPHA:85288
HP:0011844	Abnormal appendicular skeleton morphology	3459	IFNGR1	OMIM:209950
HP:0011844	Abnormal appendicular skeleton morphology	10717	AP4B1	ORPHA:280763
HP:0011844	Abnormal appendicular skeleton morphology	10717	AP4B1	OMIM:614066
HP:0011844	Abnormal appendicular skeleton morphology	11154	AP4S1	ORPHA:280763
HP:0011844	Abnormal appendicular skeleton morphology	23431	AP4E1	ORPHA:280763
HP:0011844	Abnormal appendicular skeleton morphology	29928	TIMM22	OMIM:618851
HP:0011844	Abnormal appendicular skeleton morphology	84700	MYO18B	OMIM:616549
HP:0011844	Abnormal appendicular skeleton morphology	4897	NRCAM	OMIM:619833
HP:0011844	Abnormal appendicular skeleton morphology	8546	AP3B1	OMIM:608233
HP:0011844	Abnormal appendicular skeleton morphology	8443	GNPAT	OMIM:222765
HP:0011844	Abnormal appendicular skeleton morphology	7473	WNT3	ORPHA:3301
HP:0011844	Abnormal appendicular skeleton morphology	340419	RSPO2	ORPHA:3301
HP:0011844	Abnormal appendicular skeleton morphology	79912	PYROXD1	OMIM:617258
HP:0011844	Abnormal appendicular skeleton morphology	10765	KDM5B	OMIM:618109
HP:0011844	Abnormal appendicular skeleton morphology	10093	ARPC4	OMIM:620141
HP:0011844	Abnormal appendicular skeleton morphology	5879	RAC1	ORPHA:500159
HP:0011844	Abnormal appendicular skeleton morphology	1144	CHRND	OMIM:253290
HP:0011844	Abnormal appendicular skeleton morphology	1134	CHRNA1	OMIM:253290
HP:0011844	Abnormal appendicular skeleton morphology	2019	EN1	OMIM:619218
HP:0011844	Abnormal appendicular skeleton morphology	51651	PTRH2	OMIM:616263
HP:0011844	Abnormal appendicular skeleton morphology	51651	PTRH2	ORPHA:456312
HP:0011844	Abnormal appendicular skeleton morphology	22930	RAB3GAP1	ORPHA:1387
HP:0011844	Abnormal appendicular skeleton morphology	6909	TBX2	OMIM:618223
HP:0011844	Abnormal appendicular skeleton morphology	8985	PLOD3	OMIM:612394
HP:0011844	Abnormal appendicular skeleton morphology	55280	CWF19L1	ORPHA:453521
HP:0011844	Abnormal appendicular skeleton morphology	23586	RIGI	OMIM:616298
HP:0011844	Abnormal appendicular skeleton morphology	8452	CUL3	OMIM:619239
HP:0011844	Abnormal appendicular skeleton morphology	1807	DPYS	OMIM:222748
HP:0011844	Abnormal appendicular skeleton morphology	8815	BANF1	OMIM:614008
HP:0011844	Abnormal appendicular skeleton morphology	51412	ACTL6B	OMIM:618470
HP:0011844	Abnormal appendicular skeleton morphology	10651	MTX2	ORPHA:90153
HP:0011844	Abnormal appendicular skeleton morphology	24140	FTSJ1	OMIM:309549
HP:0011844	Abnormal appendicular skeleton morphology	2475	MTOR	OMIM:616638
HP:0011844	Abnormal appendicular skeleton morphology	54	ACP5	ORPHA:1855
HP:0011844	Abnormal appendicular skeleton morphology	5281	PIGF	OMIM:619356
HP:0011844	Abnormal appendicular skeleton morphology	2677	GGCX	OMIM:277450
HP:0011844	Abnormal appendicular skeleton morphology	26137	ZBTB20	OMIM:259050
HP:0011844	Abnormal appendicular skeleton morphology	60401	EDA2R	ORPHA:181
HP:0011844	Abnormal appendicular skeleton morphology	1896	EDA	ORPHA:181
HP:0011844	Abnormal appendicular skeleton morphology	4256	MGP	ORPHA:85202
HP:0011844	Abnormal appendicular skeleton morphology	4256	MGP	OMIM:245150
HP:0011844	Abnormal appendicular skeleton morphology	1186	CLCN7	ORPHA:53
HP:0011844	Abnormal appendicular skeleton morphology	865	CBFB	OMIM:620099
HP:0011844	Abnormal appendicular skeleton morphology	6711	SPTBN1	OMIM:619475
HP:0011844	Abnormal appendicular skeleton morphology	71	ACTG1	ORPHA:2995
HP:0011844	Abnormal appendicular skeleton morphology	6135	RPL11	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6138	RPL15	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6229	RPS24	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6125	RPL5	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6204	RPS10	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6224	RPS20	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6165	RPL35A	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6223	RPS19	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6223	RPS19	OMIM:105650
HP:0011844	Abnormal appendicular skeleton morphology	6232	RPS27	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6231	RPS26	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	11224	RPL35	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6160	RPL31	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6218	RPS17	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6201	RPS7	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6155	RPL27	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6210	RPS15A	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	90121	TSR2	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6141	RPL18	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6235	RPS29	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	6234	RPS28	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	51816	ADA2	ORPHA:124
HP:0011844	Abnormal appendicular skeleton morphology	10992	SF3B2	OMIM:164210
HP:0011844	Abnormal appendicular skeleton morphology	27152	INTU	OMIM:617926
HP:0011844	Abnormal appendicular skeleton morphology	57020	VPS35L	OMIM:619135
HP:0011844	Abnormal appendicular skeleton morphology	6736	SRY	ORPHA:1772
HP:0011844	Abnormal appendicular skeleton morphology	26224	FBXL3	OMIM:606220
HP:0011844	Abnormal appendicular skeleton morphology	55612	FERMT1	ORPHA:2908
HP:0011844	Abnormal appendicular skeleton morphology	64175	P3H1	OMIM:610915
HP:0011844	Abnormal appendicular skeleton morphology	5593	PRKG2	OMIM:619636
HP:0011844	Abnormal appendicular skeleton morphology	4810	NHS	ORPHA:627
HP:0011844	Abnormal appendicular skeleton morphology	55252	ASXL2	OMIM:617190
HP:0011844	Abnormal appendicular skeleton morphology	1788	DNMT3A	OMIM:618724
HP:0011844	Abnormal appendicular skeleton morphology	90417	KNSTRN	OMIM:613328
HP:0011844	Abnormal appendicular skeleton morphology	5293	PIK3CD	OMIM:613328
HP:0011844	Abnormal appendicular skeleton morphology	10059	DNM1L	OMIM:614388
HP:0011844	Abnormal appendicular skeleton morphology	4329	ALDH6A1	OMIM:614105
HP:0011844	Abnormal appendicular skeleton morphology	6878	TAF6	OMIM:617126
HP:0011844	Abnormal appendicular skeleton morphology	285362	SUMF1	ORPHA:585
HP:0011844	Abnormal appendicular skeleton morphology	3764	KCNJ8	ORPHA:1517
HP:0011844	Abnormal appendicular skeleton morphology	60	ACTB	OMIM:243310
HP:0011844	Abnormal appendicular skeleton morphology	10060	ABCC9	OMIM:239850
HP:0011844	Abnormal appendicular skeleton morphology	10716	TBR1	ORPHA:1617
HP:0011844	Abnormal appendicular skeleton morphology	158326	FREM1	ORPHA:217266
HP:0011844	Abnormal appendicular skeleton morphology	3170	FOXA2	ORPHA:95494
HP:0011844	Abnormal appendicular skeleton morphology	5015	OTX2	ORPHA:95494
HP:0011844	Abnormal appendicular skeleton morphology	3899	AFF3	OMIM:619297
HP:0011844	Abnormal appendicular skeleton morphology	22897	CEP164	OMIM:614845
HP:0011844	Abnormal appendicular skeleton morphology	3643	INSR	ORPHA:769
HP:0011844	Abnormal appendicular skeleton morphology	26146	TRAF3IP1	OMIM:616629
HP:0011844	Abnormal appendicular skeleton morphology	7840	ALMS1	OMIM:203800
HP:0011844	Abnormal appendicular skeleton morphology	8802	SUCLG1	ORPHA:17
HP:0011844	Abnormal appendicular skeleton morphology	83879	CDCA7	OMIM:616910
HP:0011844	Abnormal appendicular skeleton morphology	5813	PURA	ORPHA:314655
HP:0011844	Abnormal appendicular skeleton morphology	4758	NEU1	ORPHA:93400
HP:0011844	Abnormal appendicular skeleton morphology	84892	POMGNT2	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	148789	B3GALNT2	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	1282	COL4A1	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	10329	RXYLT1	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	1605	DAG1	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	11041	B4GAT1	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	84197	POMK	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	55624	POMGNT1	ORPHA:899
HP:0011844	Abnormal appendicular skeleton morphology	51111	KMT5B	OMIM:617788
HP:0011844	Abnormal appendicular skeleton morphology	80347	COASY	OMIM:618266
HP:0011844	Abnormal appendicular skeleton morphology	54809	SAMD9	OMIM:617053
HP:0011844	Abnormal appendicular skeleton morphology	348180	CTU2	OMIM:618142
HP:0011844	Abnormal appendicular skeleton morphology	7841	MOGS	OMIM:606056
HP:0011844	Abnormal appendicular skeleton morphology	7841	MOGS	ORPHA:79330
HP:0011844	Abnormal appendicular skeleton morphology	256297	PTF1A	OMIM:609069
HP:0011844	Abnormal appendicular skeleton morphology	129285	PPP1R21	OMIM:619383
HP:0011844	Abnormal appendicular skeleton morphology	8567	MADD	OMIM:619004
HP:0011844	Abnormal appendicular skeleton morphology	5297	PI4KA	OMIM:616531
HP:0011844	Abnormal appendicular skeleton morphology	5297	PI4KA	OMIM:619708
HP:0011844	Abnormal appendicular skeleton morphology	1822	ATN1	OMIM:618494
HP:0011844	Abnormal appendicular skeleton morphology	5591	PRKDC	OMIM:615966
HP:0011844	Abnormal appendicular skeleton morphology	60561	RINT1	OMIM:618641
HP:0011844	Abnormal appendicular skeleton morphology	3313	HSPA9	OMIM:616854
HP:0011844	Abnormal appendicular skeleton morphology	9657	IQCB1	ORPHA:3156
HP:0011844	Abnormal appendicular skeleton morphology	27130	INVS	ORPHA:3156
HP:0011844	Abnormal appendicular skeleton morphology	261734	NPHP4	ORPHA:3156
HP:0011844	Abnormal appendicular skeleton morphology	27031	NPHP3	ORPHA:3156
HP:0011844	Abnormal appendicular skeleton morphology	64802	NMNAT1	OMIM:619260
HP:0011844	Abnormal appendicular skeleton morphology	64116	SLC39A8	ORPHA:468699
HP:0011844	Abnormal appendicular skeleton morphology	7068	THRB	OMIM:274300
HP:0011844	Abnormal appendicular skeleton morphology	51506	UFC1	OMIM:618076
HP:0011844	Abnormal appendicular skeleton morphology	11146	GLMN	ORPHA:83454
HP:0011844	Abnormal appendicular skeleton morphology	657	BMPR1A	ORPHA:79076
HP:0011844	Abnormal appendicular skeleton morphology	4123	MAN2C1	OMIM:619775
HP:0011844	Abnormal appendicular skeleton morphology	60529	ALX4	ORPHA:60015
HP:0011844	Abnormal appendicular skeleton morphology	5587	PRKD1	OMIM:617364
HP:0011844	Abnormal appendicular skeleton morphology	7355	SLC35A2	ORPHA:356961
HP:0011844	Abnormal appendicular skeleton morphology	3178	HNRNPA1	ORPHA:52430
HP:0011844	Abnormal appendicular skeleton morphology	7415	VCP	ORPHA:52430
HP:0011844	Abnormal appendicular skeleton morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0011844	Abnormal appendicular skeleton morphology	81839	VANGL1	ORPHA:3027
HP:0011844	Abnormal appendicular skeleton morphology	80199	FUZ	ORPHA:3027
HP:0011844	Abnormal appendicular skeleton morphology	654	BMP6	ORPHA:465508
HP:0011844	Abnormal appendicular skeleton morphology	3077	HFE	ORPHA:465508
HP:0011844	Abnormal appendicular skeleton morphology	6775	STAT4	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	3560	IL2RB	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	79722	ANKRD55	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	26191	PTPN22	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	919	CD247	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	3559	IL2RA	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	5771	PTPN2	ORPHA:85408
HP:0011844	Abnormal appendicular skeleton morphology	6872	TAF1	OMIM:300966
HP:0011844	Abnormal appendicular skeleton morphology	3835	KIF22	OMIM:603546
HP:0011844	Abnormal appendicular skeleton morphology	3106	HLA-B	OMIM:106300
HP:0011844	Abnormal appendicular skeleton morphology	84340	GFM2	ORPHA:565624
HP:0011844	Abnormal appendicular skeleton morphology	6840	SVIL	OMIM:619040
HP:0011844	Abnormal appendicular skeleton morphology	342035	GLDN	OMIM:617194
HP:0011844	Abnormal appendicular skeleton morphology	57190	SELENON	ORPHA:2020
HP:0011844	Abnormal appendicular skeleton morphology	4633	MYL2	ORPHA:2020
HP:0011844	Abnormal appendicular skeleton morphology	3679	ITGA7	ORPHA:2020
HP:0011844	Abnormal appendicular skeleton morphology	9200	HACD1	ORPHA:2020
HP:0011844	Abnormal appendicular skeleton morphology	7170	TPM3	ORPHA:2020
HP:0011844	Abnormal appendicular skeleton morphology	28982	FLVCR1	ORPHA:88628
HP:0011844	Abnormal appendicular skeleton morphology	28982	FLVCR1	OMIM:609033
HP:0011844	Abnormal appendicular skeleton morphology	5696	PSMB8	OMIM:256040
HP:0011844	Abnormal appendicular skeleton morphology	5692	PSMB4	OMIM:617591
HP:0011844	Abnormal appendicular skeleton morphology	5698	PSMB9	OMIM:617591
HP:0011844	Abnormal appendicular skeleton morphology	4952	OCRL	OMIM:309000
HP:0011844	Abnormal appendicular skeleton morphology	57187	THOC2	OMIM:300957
HP:0011844	Abnormal appendicular skeleton morphology	51608	GET4	OMIM:620200
HP:0011844	Abnormal appendicular skeleton morphology	28962	OSTM1	OMIM:259720
HP:0011844	Abnormal appendicular skeleton morphology	51112	TRAPPC12	ORPHA:500144
HP:0011844	Abnormal appendicular skeleton morphology	29998	BICRA	OMIM:619325
HP:0011844	Abnormal appendicular skeleton morphology	83932	SPRTN	OMIM:616200
HP:0011844	Abnormal appendicular skeleton morphology	26012	NSMF	OMIM:614838
HP:0011844	Abnormal appendicular skeleton morphology	55780	ERMARD	ORPHA:75857
HP:0011844	Abnormal appendicular skeleton morphology	10559	SLC35A1	OMIM:603585
HP:0011844	Abnormal appendicular skeleton morphology	84720	PIGO	ORPHA:247262
HP:0011844	Abnormal appendicular skeleton morphology	93210	PGAP3	ORPHA:247262
HP:0011844	Abnormal appendicular skeleton morphology	284098	PIGW	ORPHA:247262
HP:0011844	Abnormal appendicular skeleton morphology	27315	PGAP2	ORPHA:247262
HP:0011844	Abnormal appendicular skeleton morphology	92579	G6PC3	OMIM:612541
HP:0011844	Abnormal appendicular skeleton morphology	23512	SUZ12	OMIM:618786
HP:0011844	Abnormal appendicular skeleton morphology	8558	CDK10	OMIM:617694
HP:0011844	Abnormal appendicular skeleton morphology	23137	SMC5	OMIM:620185
HP:0011844	Abnormal appendicular skeleton morphology	79759	ZNF668	OMIM:620194
HP:0011844	Abnormal appendicular skeleton morphology	27086	FOXP1	ORPHA:391372
HP:0011844	Abnormal appendicular skeleton morphology	56098	PCDHGC4	OMIM:619880
HP:0011844	Abnormal appendicular skeleton morphology	8621	CDK13	OMIM:617360
HP:0011844	Abnormal appendicular skeleton morphology	5881	RAC3	OMIM:618577
HP:0011844	Abnormal appendicular skeleton morphology	5426	POLE	OMIM:618336
HP:0011844	Abnormal appendicular skeleton morphology	6664	SOX11	OMIM:615866
HP:0011844	Abnormal appendicular skeleton morphology	6664	SOX11	ORPHA:1465
HP:0011844	Abnormal appendicular skeleton morphology	54892	NCAPG2	OMIM:618460
HP:0011844	Abnormal appendicular skeleton morphology	55315	SLC29A3	OMIM:602782
HP:0011844	Abnormal appendicular skeleton morphology	999	CDH1	OMIM:119580
HP:0011844	Abnormal appendicular skeleton morphology	23511	NUP188	OMIM:618804
HP:0011844	Abnormal appendicular skeleton morphology	6597	SMARCA4	ORPHA:1465
HP:0011844	Abnormal appendicular skeleton morphology	6601	SMARCC2	ORPHA:1465
HP:0011844	Abnormal appendicular skeleton morphology	6602	SMARCD1	ORPHA:1465
HP:0011844	Abnormal appendicular skeleton morphology	83737	ITCH	OMIM:613385
HP:0011844	Abnormal appendicular skeleton morphology	83737	ITCH	ORPHA:228426
HP:0011844	Abnormal appendicular skeleton morphology	93587	TRMT10A	ORPHA:391408
HP:0011844	Abnormal appendicular skeleton morphology	84919	PPP1R15B	ORPHA:391408
HP:0011844	Abnormal appendicular skeleton morphology	6748	SSR4	OMIM:300934
HP:0011844	Abnormal appendicular skeleton morphology	9320	TRIP12	OMIM:617752
HP:0011844	Abnormal appendicular skeleton morphology	84231	TRAF7	OMIM:618164
HP:0011844	Abnormal appendicular skeleton morphology	11043	MID2	OMIM:300928
HP:0011844	Abnormal appendicular skeleton morphology	5286	PIK3C2A	ORPHA:557003
HP:0011844	Abnormal appendicular skeleton morphology	23309	SIN3B	ORPHA:500166
HP:0011844	Abnormal appendicular skeleton morphology	100	ADA	OMIM:102700
HP:0011844	Abnormal appendicular skeleton morphology	23761	PISD	OMIM:618889
HP:0011844	Abnormal appendicular skeleton morphology	64132	XYLT2	OMIM:605822
HP:0011844	Abnormal appendicular skeleton morphology	10312	TCIRG1	OMIM:259700
HP:0011844	Abnormal appendicular skeleton morphology	8792	TNFRSF11A	OMIM:612301
HP:0011844	Abnormal appendicular skeleton morphology	221496	LEMD2	OMIM:619322
HP:0011844	Abnormal appendicular skeleton morphology	2688	GH1	OMIM:612781
HP:0011844	Abnormal appendicular skeleton morphology	128	ADH5	OMIM:619151
HP:0011844	Abnormal appendicular skeleton morphology	3373	HYAL1	OMIM:601492
HP:0011844	Abnormal appendicular skeleton morphology	126129	CPT1C	OMIM:616282
HP:0011844	Abnormal appendicular skeleton morphology	1747	DLX3	ORPHA:3352
HP:0011844	Abnormal appendicular skeleton morphology	3767	KCNJ11	ORPHA:79134
HP:0011844	Abnormal appendicular skeleton morphology	79731	NARS2	ORPHA:79134
HP:0011844	Abnormal appendicular skeleton morphology	6833	ABCC8	ORPHA:79134
HP:0011844	Abnormal appendicular skeleton morphology	175	AGA	ORPHA:93
HP:0011844	Abnormal appendicular skeleton morphology	25923	ATL3	OMIM:615632
HP:0011844	Abnormal appendicular skeleton morphology	1063	CENPF	OMIM:243605
HP:0011844	Abnormal appendicular skeleton morphology	26047	CNTNAP2	ORPHA:163681
HP:0011844	Abnormal appendicular skeleton morphology	9371	KIF3B	OMIM:618955
HP:0011844	Abnormal appendicular skeleton morphology	286204	CRB2	OMIM:219730
HP:0011844	Abnormal appendicular skeleton morphology	84300	UQCC2	OMIM:615824
HP:0011844	Abnormal appendicular skeleton morphology	2218	FKTN	ORPHA:272
HP:0011844	Abnormal appendicular skeleton morphology	54968	TMEM70	ORPHA:1194
HP:0011844	Abnormal appendicular skeleton morphology	84466	MEGF10	OMIM:614399
HP:0011844	Abnormal appendicular skeleton morphology	3508	IGHMBP2	OMIM:604320
HP:0011844	Abnormal appendicular skeleton morphology	64127	NOD2	OMIM:186580
HP:0011844	Abnormal appendicular skeleton morphology	64127	NOD2	ORPHA:90340
HP:0011844	Abnormal appendicular skeleton morphology	4593	MUSK	OMIM:208150
HP:0011844	Abnormal appendicular skeleton morphology	4593	MUSK	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	23102	TBC1D2B	OMIM:619323
HP:0011844	Abnormal appendicular skeleton morphology	2068	ERCC2	OMIM:610756
HP:0011844	Abnormal appendicular skeleton morphology	2068	ERCC2	ORPHA:1466
HP:0011844	Abnormal appendicular skeleton morphology	2073	ERCC5	ORPHA:1466
HP:0011844	Abnormal appendicular skeleton morphology	4927	NUP88	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	7846	TUBA1A	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	5913	RAPSN	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	6572	SLC18A3	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	285489	DOK7	ORPHA:994
HP:0011844	Abnormal appendicular skeleton morphology	25914	RTTN	ORPHA:468631
HP:0011844	Abnormal appendicular skeleton morphology	26092	TOR1AIP1	OMIM:617072
HP:0011844	Abnormal appendicular skeleton morphology	55651	NHP2	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	79650	USB1	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	55135	WRAP53	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	4869	NPM1	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	55505	NOP10	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	1736	DKC1	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	7298	TYMS	ORPHA:1775
HP:0011844	Abnormal appendicular skeleton morphology	2554	GABRA1	ORPHA:33069
HP:0011844	Abnormal appendicular skeleton morphology	57526	PCDH19	ORPHA:33069
HP:0011844	Abnormal appendicular skeleton morphology	2566	GABRG2	ORPHA:33069
HP:0011844	Abnormal appendicular skeleton morphology	2566	GABRG2	ORPHA:36387
HP:0011844	Abnormal appendicular skeleton morphology	112755	STX1B	ORPHA:36387
HP:0011844	Abnormal appendicular skeleton morphology	348980	HCN1	ORPHA:36387
HP:0011844	Abnormal appendicular skeleton morphology	84059	ADGRV1	ORPHA:36387
HP:0011844	Abnormal appendicular skeleton morphology	2212	FCGR2A	OMIM:219700
HP:0011844	Abnormal appendicular skeleton morphology	3071	NCKAP1L	OMIM:618982
HP:0011844	Abnormal appendicular skeleton morphology	7015	TERT	OMIM:614742
HP:0011844	Abnormal appendicular skeleton morphology	7015	TERT	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	7015	TERT	OMIM:178500
HP:0011844	Abnormal appendicular skeleton morphology	987	LRBA	OMIM:614700
HP:0011844	Abnormal appendicular skeleton morphology	729238	SFTPA2	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	729238	SFTPA2	OMIM:178500
HP:0011844	Abnormal appendicular skeleton morphology	79991	STN1	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	727897	MUC5B	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	727897	MUC5B	OMIM:178500
HP:0011844	Abnormal appendicular skeleton morphology	10144	FAM13A	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	23250	ATP11A	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	91039	DPP9	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	51750	RTEL1	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	7012	TERC	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	5073	PARN	ORPHA:2032
HP:0011844	Abnormal appendicular skeleton morphology	440275	EIF2AK4	ORPHA:199241
HP:0011844	Abnormal appendicular skeleton morphology	10568	SLC34A2	ORPHA:60025
HP:0011844	Abnormal appendicular skeleton morphology	8884	SLC5A6	OMIM:618973
HP:0011844	Abnormal appendicular skeleton morphology	10125	RASGRP1	OMIM:618534
HP:0011844	Abnormal appendicular skeleton morphology	59067	IL21	OMIM:615767
HP:0011844	Abnormal appendicular skeleton morphology	79651	RHBDF2	ORPHA:2198
HP:0011844	Abnormal appendicular skeleton morphology	7092	TLL1	ORPHA:99106
HP:0011844	Abnormal appendicular skeleton morphology	7132	TNFRSF1A	ORPHA:32960
HP:0011844	Abnormal appendicular skeleton morphology	274	BIN1	ORPHA:169186
HP:0011844	Abnormal appendicular skeleton morphology	10290	SPEG	ORPHA:169186
HP:0011844	Abnormal appendicular skeleton morphology	6261	RYR1	ORPHA:169186
HP:0011844	Abnormal appendicular skeleton morphology	7273	TTN	ORPHA:169186
HP:0011844	Abnormal appendicular skeleton morphology	57459	GATAD2B	OMIM:615074
HP:0011844	Abnormal appendicular skeleton morphology	57459	GATAD2B	ORPHA:363686
HP:0011844	Abnormal appendicular skeleton morphology	1281	COL3A1	OMIM:618343
HP:0011844	Abnormal appendicular skeleton morphology	51520	LARS1	OMIM:615438
HP:0011844	Abnormal appendicular skeleton morphology	116931	MED12L	OMIM:618872
HP:0011844	Abnormal appendicular skeleton morphology	203068	TUBB	OMIM:156610
HP:0011844	Abnormal appendicular skeleton morphology	9772	TMEM94	OMIM:618316
HP:0011844	Abnormal appendicular skeleton morphology	79971	WLS	OMIM:619648
HP:0011844	Abnormal appendicular skeleton morphology	2556	GABRA3	OMIM:301091
HP:0011844	Abnormal appendicular skeleton morphology	5373	PMM2	ORPHA:79318
HP:0011844	Abnormal appendicular skeleton morphology	7528	YY1	OMIM:617557
HP:0011844	Abnormal appendicular skeleton morphology	55768	NGLY1	ORPHA:404454
HP:0011844	Abnormal appendicular skeleton morphology	1235	CCR6	ORPHA:220393
HP:0011844	Abnormal appendicular skeleton morphology	1235	CCR6	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	1490	CCN2	ORPHA:220393
HP:0011844	Abnormal appendicular skeleton morphology	1490	CCN2	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	3663	IRF5	ORPHA:220393
HP:0011844	Abnormal appendicular skeleton morphology	3663	IRF5	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	857	CAV1	ORPHA:220393
HP:0011844	Abnormal appendicular skeleton morphology	857	CAV1	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	3123	HLA-DRB1	ORPHA:220393
HP:0011844	Abnormal appendicular skeleton morphology	3123	HLA-DRB1	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	79932	KIAA0319L	ORPHA:220402
HP:0011844	Abnormal appendicular skeleton morphology	9842	PLEKHM1	OMIM:611497
HP:0011844	Abnormal appendicular skeleton morphology	79705	LRRK1	OMIM:615198
HP:0011844	Abnormal appendicular skeleton morphology	92255	LMBRD2	OMIM:619694
HP:0011844	Abnormal appendicular skeleton morphology	781	CACNA2D1	OMIM:620149
HP:0011844	Abnormal appendicular skeleton morphology	123263	MTFMT	OMIM:614947
HP:0011844	Abnormal appendicular skeleton morphology	7486	WRN	ORPHA:902
HP:0011844	Abnormal appendicular skeleton morphology	388662	SLC6A17	OMIM:616269
HP:0011844	Abnormal appendicular skeleton morphology	1801	DPH1	ORPHA:459061
HP:0011847	Giant cell tumor of bone	64840	PORCN	ORPHA:2092
HP:0011848	Abdominal colic	8694	DGAT1	OMIM:615863
HP:0011848	Abdominal colic	210	ALAD	OMIM:612740
HP:0011848	Abdominal colic	5244	ABCB4	ORPHA:69663
HP:0011848	Abdominal colic	6476	SI	ORPHA:35122
HP:0011848	Abdominal colic	353	APRT	ORPHA:976
HP:0011849	Abnormal bone ossification	6448	SGSH	OMIM:252900
HP:0011849	Abnormal bone ossification	138050	HGSNAT	OMIM:252930
HP:0011849	Abnormal bone ossification	4669	NAGLU	OMIM:252920
HP:0011849	Abnormal bone ossification	55503	TRPV6	OMIM:618188
HP:0011849	Abnormal bone ossification	8425	LTBP4	OMIM:613177
HP:0011849	Abnormal bone ossification	51126	NAA20	OMIM:619717
HP:0011849	Abnormal bone ossification	7355	SLC35A2	ORPHA:356961
HP:0011849	Abnormal bone ossification	3190	HNRNPK	ORPHA:453504
HP:0011849	Abnormal bone ossification	3190	HNRNPK	ORPHA:352665
HP:0011849	Abnormal bone ossification	54209	TREM2	OMIM:618193
HP:0011849	Abnormal bone ossification	4125	MAN2B1	ORPHA:309282
HP:0011849	Abnormal bone ossification	4125	MAN2B1	ORPHA:309288
HP:0011849	Abnormal bone ossification	2201	FBN2	OMIM:121050
HP:0011849	Abnormal bone ossification	4882	NPR2	OMIM:615923
HP:0011849	Abnormal bone ossification	79158	GNPTAB	OMIM:252500
HP:0011849	Abnormal bone ossification	9382	COG1	OMIM:611209
HP:0011849	Abnormal bone ossification	9382	COG1	ORPHA:263508
HP:0011849	Abnormal bone ossification	134218	DNAJC21	ORPHA:811
HP:0011849	Abnormal bone ossification	79631	EFL1	ORPHA:811
HP:0011849	Abnormal bone ossification	51119	SBDS	ORPHA:811
HP:0011849	Abnormal bone ossification	6729	SRP54	ORPHA:811
HP:0011849	Abnormal bone ossification	6729	SRP54	ORPHA:486
HP:0011849	Abnormal bone ossification	7125	TNNC2	OMIM:620161
HP:0011849	Abnormal bone ossification	6772	STAT1	OMIM:614162
HP:0011849	Abnormal bone ossification	6772	STAT1	ORPHA:391487
HP:0011849	Abnormal bone ossification	3899	AFF3	OMIM:619297
HP:0011849	Abnormal bone ossification	23545	ATP6V0A2	ORPHA:2834
HP:0011849	Abnormal bone ossification	23545	ATP6V0A2	OMIM:278250
HP:0011849	Abnormal bone ossification	90993	CREB3L1	OMIM:616229
HP:0011849	Abnormal bone ossification	1289	COL5A1	ORPHA:287
HP:0011849	Abnormal bone ossification	1290	COL5A2	ORPHA:287
HP:0011849	Abnormal bone ossification	8726	EED	OMIM:617561
HP:0011849	Abnormal bone ossification	1028	CDKN1C	OMIM:614732
HP:0011849	Abnormal bone ossification	8642	DCHS1	OMIM:601390
HP:0011849	Abnormal bone ossification	8642	DCHS1	ORPHA:314679
HP:0011849	Abnormal bone ossification	4247	MGAT2	OMIM:212066
HP:0011849	Abnormal bone ossification	4247	MGAT2	ORPHA:79329
HP:0011849	Abnormal bone ossification	1576	CYP3A4	OMIM:619073
HP:0011849	Abnormal bone ossification	11285	B4GALT7	OMIM:130070
HP:0011849	Abnormal bone ossification	11285	B4GALT7	ORPHA:75496
HP:0011849	Abnormal bone ossification	10043	TOM1	ORPHA:391487
HP:0011849	Abnormal bone ossification	595	CCND1	ORPHA:29073
HP:0011849	Abnormal bone ossification	5034	P4HB	OMIM:112240
HP:0011849	Abnormal bone ossification	55699	IARS2	OMIM:616007
HP:0011849	Abnormal bone ossification	8239	USP9X	ORPHA:480880
HP:0011849	Abnormal bone ossification	285175	UNC80	OMIM:616801
HP:0011849	Abnormal bone ossification	1650	DDOST	OMIM:614507
HP:0011849	Abnormal bone ossification	1650	DDOST	ORPHA:300536
HP:0011849	Abnormal bone ossification	10056	FARSB	OMIM:613658
HP:0011849	Abnormal bone ossification	80067	DCAF17	ORPHA:3464
HP:0011849	Abnormal bone ossification	3845	KRAS	OMIM:163200
HP:0011849	Abnormal bone ossification	4893	NRAS	OMIM:163200
HP:0011849	Abnormal bone ossification	3265	HRAS	OMIM:163200
HP:0011849	Abnormal bone ossification	84992	PIGY	OMIM:616809
HP:0011849	Abnormal bone ossification	79759	ZNF668	OMIM:620194
HP:0011849	Abnormal bone ossification	79991	STN1	OMIM:617341
HP:0011849	Abnormal bone ossification	6774	STAT3	OMIM:147060
HP:0011849	Abnormal bone ossification	6774	STAT3	ORPHA:2314
HP:0011849	Abnormal bone ossification	9276	COPB2	OMIM:619884
HP:0011849	Abnormal bone ossification	9247	GCM2	OMIM:617343
HP:0011849	Abnormal bone ossification	9247	GCM2	ORPHA:99879
HP:0011849	Abnormal bone ossification	3911	LAMA5	OMIM:620076
HP:0011849	Abnormal bone ossification	11128	POLR3A	ORPHA:3455
HP:0011849	Abnormal bone ossification	23314	SATB2	ORPHA:576283
HP:0011849	Abnormal bone ossification	23314	SATB2	ORPHA:251028
HP:0011849	Abnormal bone ossification	3187	HNRNPH1	OMIM:620083
HP:0011849	Abnormal bone ossification	54941	RNF125	OMIM:616260
HP:0011849	Abnormal bone ossification	79989	IFT56	OMIM:619534
HP:0011849	Abnormal bone ossification	6603	SMARCD2	OMIM:617475
HP:0011849	Abnormal bone ossification	10516	FBLN5	ORPHA:90348
HP:0011849	Abnormal bone ossification	5832	ALDH18A1	ORPHA:90348
HP:0011849	Abnormal bone ossification	5832	ALDH18A1	OMIM:616603
HP:0011849	Abnormal bone ossification	50628	GEMIN4	OMIM:617913
HP:0011849	Abnormal bone ossification	64116	SLC39A8	ORPHA:468699
HP:0011849	Abnormal bone ossification	64116	SLC39A8	OMIM:616721
HP:0011849	Abnormal bone ossification	404672	GTF2H5	ORPHA:33364
HP:0011849	Abnormal bone ossification	833	CARS1	ORPHA:33364
HP:0011849	Abnormal bone ossification	2068	ERCC2	ORPHA:33364
HP:0011849	Abnormal bone ossification	7737	RNF113A	ORPHA:33364
HP:0011849	Abnormal bone ossification	136647	MPLKIP	ORPHA:33364
HP:0011849	Abnormal bone ossification	6897	TARS1	ORPHA:33364
HP:0011849	Abnormal bone ossification	2071	ERCC3	ORPHA:33364
HP:0011849	Abnormal bone ossification	2961	GTF2E2	ORPHA:33364
HP:0011849	Abnormal bone ossification	10195	ALG3	ORPHA:79321
HP:0011849	Abnormal bone ossification	387733	IFITM5	OMIM:610967
HP:0011849	Abnormal bone ossification	1991	ELANE	ORPHA:486
HP:0011849	Abnormal bone ossification	2672	GFI1	ORPHA:486
HP:0011849	Abnormal bone ossification	81570	CLPB	ORPHA:486
HP:0011849	Abnormal bone ossification	91252	SLC39A13	ORPHA:157965
HP:0011849	Abnormal bone ossification	91252	SLC39A13	OMIM:612350
HP:0011849	Abnormal bone ossification	9742	IFT140	OMIM:266920
HP:0011849	Abnormal bone ossification	55151	TMEM38B	OMIM:615066
HP:0011849	Abnormal bone ossification	203859	ANO5	OMIM:166260
HP:0011849	Abnormal bone ossification	203859	ANO5	ORPHA:53697
HP:0011849	Abnormal bone ossification	7227	TRPS1	OMIM:190350
HP:0011849	Abnormal bone ossification	7227	TRPS1	OMIM:190351
HP:0011849	Abnormal bone ossification	5426	POLE	OMIM:618336
HP:0011849	Abnormal bone ossification	2200	FBN1	ORPHA:2462
HP:0011849	Abnormal bone ossification	6497	SKI	ORPHA:2462
HP:0011849	Abnormal bone ossification	6497	SKI	OMIM:182212
HP:0011849	Abnormal bone ossification	90417	KNSTRN	OMIM:613328
HP:0011849	Abnormal bone ossification	90417	KNSTRN	ORPHA:221139
HP:0011849	Abnormal bone ossification	5293	PIK3CD	OMIM:613328
HP:0011849	Abnormal bone ossification	5293	PIK3CD	ORPHA:221139
HP:0011849	Abnormal bone ossification	865	CBFB	OMIM:620099
HP:0011849	Abnormal bone ossification	2629	GBA1	ORPHA:77259
HP:0011849	Abnormal bone ossification	950	SCARB2	ORPHA:77259
HP:0011849	Abnormal bone ossification	8818	DPM2	ORPHA:329178
HP:0011849	Abnormal bone ossification	89970	RSPRY1	OMIM:616723
HP:0011849	Abnormal bone ossification	89970	RSPRY1	ORPHA:457395
HP:0011849	Abnormal bone ossification	128869	PIGU	OMIM:618590
HP:0011849	Abnormal bone ossification	9871	SEC24D	OMIM:616294
HP:0011849	Abnormal bone ossification	6809	STX3	OMIM:619445
HP:0011849	Abnormal bone ossification	6809	STX3	OMIM:619446
HP:0011849	Abnormal bone ossification	57520	HECW2	OMIM:617268
HP:0011849	Abnormal bone ossification	23586	RIGI	OMIM:616298
HP:0011849	Abnormal bone ossification	169792	GLIS3	OMIM:610199
HP:0011849	Abnormal bone ossification	55033	FKBP14	OMIM:614557
HP:0011849	Abnormal bone ossification	55033	FKBP14	ORPHA:300179
HP:0011849	Abnormal bone ossification	2530	FUT8	OMIM:618005
HP:0011849	Abnormal bone ossification	10265	IRX5	OMIM:611174
HP:0011849	Abnormal bone ossification	551	AVP	OMIM:125700
HP:0011849	Abnormal bone ossification	26146	TRAF3IP1	OMIM:616629
HP:0011849	Abnormal bone ossification	55750	AGK	OMIM:212350
HP:0011849	Abnormal bone ossification	4547	MTTP	ORPHA:14
HP:0011849	Abnormal bone ossification	6557	SLC12A1	OMIM:601678
HP:0011849	Abnormal bone ossification	4507	MTAP	OMIM:112250
HP:0011849	Abnormal bone ossification	3758	KCNJ1	OMIM:241200
HP:0011849	Abnormal bone ossification	8985	PLOD3	OMIM:612394
HP:0011849	Abnormal bone ossification	9419	CRIPT	OMIM:615789
HP:0011849	Abnormal bone ossification	84701	COX4I2	OMIM:612714
HP:0011849	Abnormal bone ossification	5660	PSAP	OMIM:610539
HP:0011849	Abnormal bone ossification	10664	CTCF	ORPHA:363611
HP:0011849	Abnormal bone ossification	5205	ATP8B1	OMIM:211600
HP:0011849	Abnormal bone ossification	4796	TONSL	OMIM:271510
HP:0011849	Abnormal bone ossification	51360	MBTPS2	OMIM:301014
HP:0011849	Abnormal bone ossification	6872	TAF1	OMIM:300966
HP:0011849	Abnormal bone ossification	374879	ZNF699	OMIM:619488
HP:0011849	Abnormal bone ossification	60676	PAPPA2	OMIM:619489
HP:0011849	Abnormal bone ossification	10651	MTX2	OMIM:619127
HP:0011849	Abnormal bone ossification	51124	IER3IP1	OMIM:614231
HP:0011849	Abnormal bone ossification	3557	IL1RN	OMIM:612852
HP:0011849	Abnormal bone ossification	6514	SLC2A2	ORPHA:2088
HP:0011849	Abnormal bone ossification	50485	SMARCAL1	OMIM:242900
HP:0011849	Abnormal bone ossification	6554	SLC10A1	OMIM:619256
HP:0011849	Abnormal bone ossification	9365	KL	OMIM:617994
HP:0011849	Abnormal bone ossification	26503	SLC17A5	OMIM:269920
HP:0011849	Abnormal bone ossification	4668	NAGA	OMIM:609241
HP:0011849	Abnormal bone ossification	10491	CRTAP	OMIM:610682
HP:0011849	Abnormal bone ossification	4194	MDM4	OMIM:618849
HP:0011849	Abnormal bone ossification	2263	FGFR2	ORPHA:313855
HP:0011849	Abnormal bone ossification	375056	MIA3	OMIM:619269
HP:0011849	Abnormal bone ossification	9935	MAFB	OMIM:166300
HP:0011849	Abnormal bone ossification	25886	POC1A	OMIM:614813
HP:0011849	Abnormal bone ossification	871	SERPINH1	OMIM:613848
HP:0011849	Abnormal bone ossification	171023	ASXL1	ORPHA:98850
HP:0011849	Abnormal bone ossification	171023	ASXL1	ORPHA:98849
HP:0011849	Abnormal bone ossification	54790	TET2	ORPHA:98850
HP:0011849	Abnormal bone ossification	54790	TET2	ORPHA:98849
HP:0011849	Abnormal bone ossification	867	CBL	ORPHA:98850
HP:0011849	Abnormal bone ossification	861	RUNX1	ORPHA:98850
HP:0011849	Abnormal bone ossification	6427	SRSF2	ORPHA:98850
HP:0011849	Abnormal bone ossification	6427	SRSF2	ORPHA:98849
HP:0011849	Abnormal bone ossification	875	CBS	ORPHA:394
HP:0011849	Abnormal bone ossification	875	CBS	OMIM:236200
HP:0011849	Abnormal bone ossification	83932	SPRTN	OMIM:616200
HP:0011849	Abnormal bone ossification	2100	ESR2	OMIM:618187
HP:0011849	Abnormal bone ossification	8838	CCN6	OMIM:208230
HP:0011849	Abnormal bone ossification	4010	LMX1B	ORPHA:2614
HP:0011849	Abnormal bone ossification	6938	TCF12	OMIM:619718
HP:0011849	Abnormal bone ossification	1593	CYP27A1	OMIM:213700
HP:0011849	Abnormal bone ossification	1593	CYP27A1	ORPHA:909
HP:0011849	Abnormal bone ossification	3815	KIT	ORPHA:98849
HP:0011849	Abnormal bone ossification	118429	ANTXR2	ORPHA:2176
HP:0011849	Abnormal bone ossification	118429	ANTXR2	OMIM:228600
HP:0011849	Abnormal bone ossification	64682	ANAPC1	OMIM:618625
HP:0011849	Abnormal bone ossification	1736	DKC1	OMIM:305000
HP:0011849	Abnormal bone ossification	1736	DKC1	ORPHA:1775
HP:0011849	Abnormal bone ossification	538	ATP7A	OMIM:304150
HP:0011849	Abnormal bone ossification	538	ATP7A	ORPHA:565
HP:0011849	Abnormal bone ossification	538	ATP7A	ORPHA:198
HP:0011849	Abnormal bone ossification	538	ATP7A	OMIM:309400
HP:0011849	Abnormal bone ossification	2542	SLC37A4	OMIM:232220
HP:0011849	Abnormal bone ossification	2542	SLC37A4	OMIM:619525
HP:0011849	Abnormal bone ossification	2542	SLC37A4	ORPHA:79259
HP:0011849	Abnormal bone ossification	80270	HSD3B7	ORPHA:79301
HP:0011849	Abnormal bone ossification	91147	TMEM67	OMIM:602152
HP:0011849	Abnormal bone ossification	9401	RECQL4	OMIM:268400
HP:0011849	Abnormal bone ossification	3909	LAMA3	ORPHA:79404
HP:0011849	Abnormal bone ossification	3918	LAMC2	ORPHA:79404
HP:0011849	Abnormal bone ossification	3914	LAMB3	ORPHA:79404
HP:0011849	Abnormal bone ossification	4784	NFIX	ORPHA:447980
HP:0011849	Abnormal bone ossification	4312	MMP1	ORPHA:79408
HP:0011849	Abnormal bone ossification	1294	COL7A1	ORPHA:79408
HP:0011849	Abnormal bone ossification	79577	CDC73	ORPHA:143
HP:0011849	Abnormal bone ossification	79577	CDC73	ORPHA:99880
HP:0011849	Abnormal bone ossification	1528	CYB5A	ORPHA:90796
HP:0011849	Abnormal bone ossification	1586	CYP17A1	ORPHA:90796
HP:0011849	Abnormal bone ossification	4221	MEN1	ORPHA:2965
HP:0011849	Abnormal bone ossification	64072	CDH23	ORPHA:2965
HP:0011849	Abnormal bone ossification	64072	CDH23	ORPHA:96253
HP:0011849	Abnormal bone ossification	64072	CDH23	ORPHA:91347
HP:0011849	Abnormal bone ossification	9049	AIP	ORPHA:2965
HP:0011849	Abnormal bone ossification	9049	AIP	OMIM:219090
HP:0011849	Abnormal bone ossification	4552	MTRR	ORPHA:2169
HP:0011849	Abnormal bone ossification	50940	PDE11A	OMIM:610475
HP:0011849	Abnormal bone ossification	50940	PDE11A	ORPHA:189439
HP:0011849	Abnormal bone ossification	10216	PRG4	ORPHA:2848
HP:0011849	Abnormal bone ossification	7486	WRN	OMIM:277700
HP:0011849	Abnormal bone ossification	7486	WRN	ORPHA:902
HP:0011849	Abnormal bone ossification	26012	NSMF	OMIM:614838
HP:0011849	Abnormal bone ossification	26012	NSMF	ORPHA:432
HP:0011849	Abnormal bone ossification	3764	KCNJ8	ORPHA:1517
HP:0011849	Abnormal bone ossification	10060	ABCC9	ORPHA:1517
HP:0011849	Abnormal bone ossification	10060	ABCC9	OMIM:239850
HP:0011849	Abnormal bone ossification	7015	TERT	OMIM:613989
HP:0011849	Abnormal bone ossification	7015	TERT	OMIM:127550
HP:0011849	Abnormal bone ossification	7015	TERT	ORPHA:1775
HP:0011849	Abnormal bone ossification	112752	IFT43	ORPHA:1515
HP:0011849	Abnormal bone ossification	51098	IFT52	ORPHA:1515
HP:0011849	Abnormal bone ossification	55764	IFT122	ORPHA:1515
HP:0011849	Abnormal bone ossification	55764	IFT122	OMIM:218330
HP:0011849	Abnormal bone ossification	57728	WDR19	ORPHA:1515
HP:0011849	Abnormal bone ossification	535	ATP6V0A1	OMIM:619971
HP:0011849	Abnormal bone ossification	2859	GPR35	ORPHA:171
HP:0011849	Abnormal bone ossification	10507	SEMA4D	ORPHA:171
HP:0011849	Abnormal bone ossification	4485	MST1	ORPHA:171
HP:0011849	Abnormal bone ossification	6925	TCF4	ORPHA:171
HP:0011849	Abnormal bone ossification	54453	RIN2	OMIM:613075
HP:0011849	Abnormal bone ossification	26277	TINF2	OMIM:613990
HP:0011849	Abnormal bone ossification	26277	TINF2	OMIM:127550
HP:0011849	Abnormal bone ossification	26277	TINF2	ORPHA:1775
HP:0011849	Abnormal bone ossification	2538	G6PC1	OMIM:232200
HP:0011849	Abnormal bone ossification	55858	TMEM165	OMIM:614727
HP:0011849	Abnormal bone ossification	3117	HLA-DQA1	OMIM:212750
HP:0011849	Abnormal bone ossification	3119	HLA-DQB1	OMIM:212750
HP:0011849	Abnormal bone ossification	5095	PCCA	OMIM:606054
HP:0011849	Abnormal bone ossification	5096	PCCB	OMIM:606054
HP:0011849	Abnormal bone ossification	4313	MMP2	ORPHA:371428
HP:0011849	Abnormal bone ossification	4313	MMP2	OMIM:259600
HP:0011849	Abnormal bone ossification	4323	MMP14	ORPHA:371428
HP:0011849	Abnormal bone ossification	54872	PIGG	ORPHA:280
HP:0011849	Abnormal bone ossification	7469	NELFA	ORPHA:280
HP:0011849	Abnormal bone ossification	5424	POLD1	OMIM:615381
HP:0011849	Abnormal bone ossification	1848	DUSP6	OMIM:615269
HP:0011849	Abnormal bone ossification	1848	DUSP6	ORPHA:432
HP:0011849	Abnormal bone ossification	2720	GLB1	OMIM:253010
HP:0011849	Abnormal bone ossification	54756	IL17RD	OMIM:615267
HP:0011849	Abnormal bone ossification	93627	TBCK	ORPHA:488632
HP:0011849	Abnormal bone ossification	649	BMP1	OMIM:614856
HP:0011849	Abnormal bone ossification	7471	WNT1	ORPHA:85193
HP:0011849	Abnormal bone ossification	22943	DKK1	ORPHA:85193
HP:0011849	Abnormal bone ossification	89780	WNT3A	ORPHA:85193
HP:0011849	Abnormal bone ossification	6845	VAMP7	ORPHA:251510
HP:0011849	Abnormal bone ossification	51741	WWOX	ORPHA:251510
HP:0011849	Abnormal bone ossification	4214	MAP3K1	ORPHA:251510
HP:0011849	Abnormal bone ossification	7490	WT1	ORPHA:251510
HP:0011849	Abnormal bone ossification	58524	DMRT3	ORPHA:251510
HP:0011849	Abnormal bone ossification	57647	DHX37	ORPHA:251510
HP:0011849	Abnormal bone ossification	6736	SRY	ORPHA:251510
HP:0011849	Abnormal bone ossification	23414	ZFPM2	ORPHA:251510
HP:0011849	Abnormal bone ossification	190	NR0B1	ORPHA:251510
HP:0011849	Abnormal bone ossification	2626	GATA4	ORPHA:251510
HP:0011849	Abnormal bone ossification	64132	XYLT2	ORPHA:85194
HP:0011849	Abnormal bone ossification	1588	CYP19A1	ORPHA:91
HP:0011849	Abnormal bone ossification	2074	ERCC6	OMIM:214150
HP:0011849	Abnormal bone ossification	2074	ERCC6	OMIM:133540
HP:0011849	Abnormal bone ossification	3043	HBB	ORPHA:232
HP:0011849	Abnormal bone ossification	3043	HBB	ORPHA:231214
HP:0011849	Abnormal bone ossification	3043	HBB	ORPHA:231222
HP:0011849	Abnormal bone ossification	3043	HBB	ORPHA:231226
HP:0011849	Abnormal bone ossification	1798	DPAGT1	ORPHA:86309
HP:0011849	Abnormal bone ossification	9056	SLC7A7	ORPHA:470
HP:0011849	Abnormal bone ossification	9056	SLC7A7	OMIM:222700
HP:0011849	Abnormal bone ossification	8822	FGF17	OMIM:615270
HP:0011849	Abnormal bone ossification	8822	FGF17	ORPHA:432
HP:0011849	Abnormal bone ossification	23767	FLRT3	OMIM:615271
HP:0011849	Abnormal bone ossification	51604	PIGT	OMIM:615398
HP:0011849	Abnormal bone ossification	213	ALB	OMIM:616000
HP:0011849	Abnormal bone ossification	5566	PRKACA	OMIM:615830
HP:0011849	Abnormal bone ossification	5566	PRKACA	ORPHA:189439
HP:0011849	Abnormal bone ossification	6135	RPL11	OMIM:612562
HP:0011849	Abnormal bone ossification	79633	FAT4	OMIM:616006
HP:0011849	Abnormal bone ossification	8622	PDE8B	ORPHA:189439
HP:0011849	Abnormal bone ossification	6804	STX1A	ORPHA:904
HP:0011849	Abnormal bone ossification	6804	STX1A	ORPHA:586
HP:0011849	Abnormal bone ossification	7461	CLIP2	ORPHA:904
HP:0011849	Abnormal bone ossification	84277	DNAJC30	ORPHA:904
HP:0011849	Abnormal bone ossification	8468	FKBP6	ORPHA:904
HP:0011849	Abnormal bone ossification	5982	RFC2	ORPHA:904
HP:0011849	Abnormal bone ossification	2969	GTF2I	ORPHA:904
HP:0011849	Abnormal bone ossification	3984	LIMK1	ORPHA:904
HP:0011849	Abnormal bone ossification	9569	GTF2IRD1	ORPHA:904
HP:0011849	Abnormal bone ossification	155382	VPS37D	ORPHA:904
HP:0011849	Abnormal bone ossification	155368	METTL27	ORPHA:904
HP:0011849	Abnormal bone ossification	114049	BUD23	ORPHA:904
HP:0011849	Abnormal bone ossification	7458	EIF4H	ORPHA:904
HP:0011849	Abnormal bone ossification	84163	GTF2IRD2	ORPHA:904
HP:0011849	Abnormal bone ossification	9275	BCL7B	ORPHA:904
HP:0011849	Abnormal bone ossification	26608	TBL2	ORPHA:904
HP:0011849	Abnormal bone ossification	653361	NCF1	ORPHA:904
HP:0011849	Abnormal bone ossification	135886	TMEM270	ORPHA:904
HP:0011849	Abnormal bone ossification	51085	MLXIPL	ORPHA:904
HP:0011849	Abnormal bone ossification	51085	MLXIPL	OMIM:194050
HP:0011849	Abnormal bone ossification	9031	BAZ1B	ORPHA:904
HP:0011849	Abnormal bone ossification	2006	ELN	ORPHA:904
HP:0011849	Abnormal bone ossification	2006	ELN	OMIM:194050
HP:0011849	Abnormal bone ossification	79798	ARMC5	OMIM:615954
HP:0011849	Abnormal bone ossification	79798	ARMC5	ORPHA:189427
HP:0011849	Abnormal bone ossification	5428	POLG	OMIM:203700
HP:0011849	Abnormal bone ossification	5428	POLG	ORPHA:254892
HP:0011849	Abnormal bone ossification	6134	RPL10	ORPHA:459070
HP:0011849	Abnormal bone ossification	6134	RPL10	OMIM:300998
HP:0011849	Abnormal bone ossification	799	CALCR	OMIM:166710
HP:0011849	Abnormal bone ossification	8572	PDLIM4	OMIM:166710
HP:0011849	Abnormal bone ossification	6609	SMPD1	OMIM:257200
HP:0011849	Abnormal bone ossification	6609	SMPD1	ORPHA:77293
HP:0011849	Abnormal bone ossification	4040	LRP6	OMIM:610947
HP:0011849	Abnormal bone ossification	2947	GSTM3	ORPHA:586
HP:0011849	Abnormal bone ossification	7040	TGFB1	ORPHA:586
HP:0011849	Abnormal bone ossification	2729	GCLC	ORPHA:586
HP:0011849	Abnormal bone ossification	1084	CEACAM3	ORPHA:586
HP:0011849	Abnormal bone ossification	6556	SLC11A1	ORPHA:586
HP:0011849	Abnormal bone ossification	51164	DCTN4	ORPHA:586
HP:0011849	Abnormal bone ossification	3783	KCNN4	ORPHA:586
HP:0011849	Abnormal bone ossification	4282	MIF	ORPHA:586
HP:0011849	Abnormal bone ossification	1909	EDNRA	ORPHA:586
HP:0011849	Abnormal bone ossification	6550	SLC9A3	ORPHA:586
HP:0011849	Abnormal bone ossification	3162	HMOX1	ORPHA:586
HP:0011849	Abnormal bone ossification	115019	SLC26A9	ORPHA:586
HP:0011849	Abnormal bone ossification	3077	HFE	ORPHA:586
HP:0011849	Abnormal bone ossification	3077	HFE	ORPHA:465508
HP:0011849	Abnormal bone ossification	3077	HFE	OMIM:235200
HP:0011849	Abnormal bone ossification	11254	SLC6A14	ORPHA:586
HP:0011849	Abnormal bone ossification	5265	SERPINA1	ORPHA:586
HP:0011849	Abnormal bone ossification	1080	CFTR	ORPHA:586
HP:0011849	Abnormal bone ossification	22802	CLCA4	ORPHA:586
HP:0011849	Abnormal bone ossification	4680	CEACAM6	ORPHA:586
HP:0011849	Abnormal bone ossification	26137	ZBTB20	OMIM:259050
HP:0011849	Abnormal bone ossification	8733	GPAA1	ORPHA:529665
HP:0011849	Abnormal bone ossification	5159	PDGFRB	OMIM:601812
HP:0011849	Abnormal bone ossification	4982	TNFRSF11B	ORPHA:2801
HP:0011849	Abnormal bone ossification	4982	TNFRSF11B	OMIM:239000
HP:0011849	Abnormal bone ossification	8792	TNFRSF11A	ORPHA:2801
HP:0011849	Abnormal bone ossification	6714	SRC	OMIM:616937
HP:0011849	Abnormal bone ossification	540	ATP7B	OMIM:277900
HP:0011849	Abnormal bone ossification	11107	PRDM5	ORPHA:90354
HP:0011849	Abnormal bone ossification	84627	ZNF469	ORPHA:90354
HP:0011849	Abnormal bone ossification	6638	SNRPN	ORPHA:98754
HP:0011849	Abnormal bone ossification	6638	SNRPN	ORPHA:177904
HP:0011849	Abnormal bone ossification	6638	SNRPN	ORPHA:177901
HP:0011849	Abnormal bone ossification	4692	NDN	ORPHA:98754
HP:0011849	Abnormal bone ossification	4692	NDN	ORPHA:177904
HP:0011849	Abnormal bone ossification	4692	NDN	ORPHA:177901
HP:0011849	Abnormal bone ossification	54551	MAGEL2	ORPHA:98754
HP:0011849	Abnormal bone ossification	54551	MAGEL2	OMIM:176270
HP:0011849	Abnormal bone ossification	54551	MAGEL2	ORPHA:177904
HP:0011849	Abnormal bone ossification	54551	MAGEL2	ORPHA:177901
HP:0011849	Abnormal bone ossification	54551	MAGEL2	ORPHA:398069
HP:0011849	Abnormal bone ossification	4948	OCA2	ORPHA:98754
HP:0011849	Abnormal bone ossification	4948	OCA2	ORPHA:177904
HP:0011849	Abnormal bone ossification	4948	OCA2	ORPHA:177901
HP:0011849	Abnormal bone ossification	9968	MED12	OMIM:301068
HP:0011849	Abnormal bone ossification	5373	PMM2	ORPHA:79318
HP:0011849	Abnormal bone ossification	5618	PRLR	ORPHA:397685
HP:0011849	Abnormal bone ossification	9394	HS6ST1	OMIM:614880
HP:0011849	Abnormal bone ossification	9394	HS6ST1	ORPHA:432
HP:0011849	Abnormal bone ossification	3977	LIFR	ORPHA:3206
HP:0011849	Abnormal bone ossification	3977	LIFR	OMIM:601559
HP:0011849	Abnormal bone ossification	55275	VPS53	OMIM:615851
HP:0011849	Abnormal bone ossification	6611	SMS	OMIM:309583
HP:0011849	Abnormal bone ossification	6611	SMS	ORPHA:3063
HP:0011849	Abnormal bone ossification	654	BMP6	ORPHA:465508
HP:0011849	Abnormal bone ossification	7048	TGFBR2	OMIM:610168
HP:0011849	Abnormal bone ossification	5836	PYGL	ORPHA:369
HP:0011849	Abnormal bone ossification	5256	PHKA2	ORPHA:264580
HP:0011849	Abnormal bone ossification	5261	PHKG2	ORPHA:264580
HP:0011849	Abnormal bone ossification	93587	TRMT10A	OMIM:616033
HP:0011849	Abnormal bone ossification	284119	CAVIN1	OMIM:613327
HP:0011849	Abnormal bone ossification	6309	SC5D	OMIM:607330
HP:0011849	Abnormal bone ossification	3479	IGF1	ORPHA:73272
HP:0011849	Abnormal bone ossification	4088	SMAD3	ORPHA:284984
HP:0011849	Abnormal bone ossification	291	SLC25A4	ORPHA:254892
HP:0011849	Abnormal bone ossification	56652	TWNK	ORPHA:254892
HP:0011849	Abnormal bone ossification	11232	POLG2	ORPHA:254892
HP:0011849	Abnormal bone ossification	50484	RRM2B	ORPHA:254892
HP:0011849	Abnormal bone ossification	81848	SPRY4	ORPHA:432
HP:0011849	Abnormal bone ossification	128674	PROKR2	ORPHA:432
HP:0011849	Abnormal bone ossification	2253	FGF8	ORPHA:432
HP:0011849	Abnormal bone ossification	60675	PROK2	ORPHA:432
HP:0011849	Abnormal bone ossification	60675	PROK2	OMIM:610628
HP:0011849	Abnormal bone ossification	55636	CHD7	ORPHA:432
HP:0011849	Abnormal bone ossification	6870	TACR3	ORPHA:432
HP:0011849	Abnormal bone ossification	55717	WDR11	ORPHA:432
HP:0011849	Abnormal bone ossification	2796	GNRH1	ORPHA:432
HP:0011849	Abnormal bone ossification	2798	GNRHR	ORPHA:432
HP:0011849	Abnormal bone ossification	84634	KISS1R	ORPHA:432
HP:0011849	Abnormal bone ossification	6866	TAC3	ORPHA:432
HP:0011849	Abnormal bone ossification	3814	KISS1	ORPHA:432
HP:0011849	Abnormal bone ossification	5351	PLOD1	OMIM:225400
HP:0011849	Abnormal bone ossification	5351	PLOD1	ORPHA:1900
HP:0011849	Abnormal bone ossification	7681	MKRN3	OMIM:176270
HP:0011849	Abnormal bone ossification	3653	IPW	OMIM:176270
HP:0011849	Abnormal bone ossification	791114	PWRN1	OMIM:176270
HP:0011849	Abnormal bone ossification	100033413	SNORD116-1	OMIM:176270
HP:0011849	Abnormal bone ossification	8924	HERC2	OMIM:176270
HP:0011849	Abnormal bone ossification	145624	PWAR1	OMIM:176270
HP:0011849	Abnormal bone ossification	23742	NPAP1	OMIM:176270
HP:0011849	Abnormal bone ossification	338433	SNORD115-1	OMIM:176270
HP:0011849	Abnormal bone ossification	2099	ESR1	ORPHA:785
HP:0011849	Abnormal bone ossification	51103	NDUFAF1	OMIM:618234
HP:0011849	Abnormal bone ossification	6492	SIM1	ORPHA:398079
HP:0011849	Abnormal bone ossification	7012	TERC	OMIM:127550
HP:0011849	Abnormal bone ossification	7012	TERC	ORPHA:1775
HP:0011849	Abnormal bone ossification	2710	GK	OMIM:307030
HP:0011849	Abnormal bone ossification	2592	GALT	ORPHA:79239
HP:0011849	Abnormal bone ossification	64135	IFIH1	OMIM:182250
HP:0011849	Abnormal bone ossification	427	ASAH1	ORPHA:333
HP:0011849	Abnormal bone ossification	84196	USP48	ORPHA:96253
HP:0011849	Abnormal bone ossification	7157	TP53	ORPHA:96253
HP:0011849	Abnormal bone ossification	9101	USP8	ORPHA:96253
HP:0011849	Abnormal bone ossification	9101	USP8	OMIM:219090
HP:0011849	Abnormal bone ossification	2908	NR3C1	ORPHA:96253
HP:0011849	Abnormal bone ossification	673	BRAF	ORPHA:96253
HP:0011849	Abnormal bone ossification	546	ATRX	ORPHA:96253
HP:0011849	Abnormal bone ossification	22930	RAB3GAP1	OMIM:600118
HP:0011849	Abnormal bone ossification	165	AEBP1	OMIM:618000
HP:0011849	Abnormal bone ossification	5257	PHKB	ORPHA:79240
HP:0011849	Abnormal bone ossification	6678	SPARC	OMIM:616507
HP:0011849	Abnormal bone ossification	9719	ADAMTSL2	ORPHA:1901
HP:0011849	Abnormal bone ossification	9509	ADAMTS2	ORPHA:1901
HP:0011849	Abnormal bone ossification	3248	HPGD	ORPHA:2796
HP:0011849	Abnormal bone ossification	3248	HPGD	OMIM:259100
HP:0011849	Abnormal bone ossification	6578	SLCO2A1	ORPHA:2796
HP:0011849	Abnormal bone ossification	7389	UROD	ORPHA:95159
HP:0011849	Abnormal bone ossification	1583	CYP11A1	ORPHA:289548
HP:0011849	Abnormal bone ossification	1583	CYP11A1	ORPHA:168558
HP:0011849	Abnormal bone ossification	23395	LARS2	OMIM:615300
HP:0011849	Abnormal bone ossification	57817	HAMP	ORPHA:79230
HP:0011849	Abnormal bone ossification	148738	HJV	ORPHA:79230
HP:0011849	Abnormal bone ossification	4763	NF1	ORPHA:97685
HP:0011849	Abnormal bone ossification	650	BMP2	OMIM:235200
HP:0011849	Abnormal bone ossification	9150	CTDP1	ORPHA:48431
HP:0011849	Abnormal bone ossification	55651	NHP2	OMIM:224230
HP:0011849	Abnormal bone ossification	55651	NHP2	ORPHA:1775
HP:0011849	Abnormal bone ossification	55505	NOP10	OMIM:224230
HP:0011849	Abnormal bone ossification	55505	NOP10	ORPHA:1775
HP:0011849	Abnormal bone ossification	9368	NHERF1	OMIM:612287
HP:0011849	Abnormal bone ossification	2588	GALNS	OMIM:253000
HP:0011849	Abnormal bone ossification	6569	SLC34A1	OMIM:612286
HP:0011849	Abnormal bone ossification	5352	PLOD2	ORPHA:2771
HP:0011849	Abnormal bone ossification	60681	FKBP10	ORPHA:2771
HP:0011849	Abnormal bone ossification	60681	FKBP10	OMIM:259450
HP:0011849	Abnormal bone ossification	3594	IL12RB1	ORPHA:186
HP:0011849	Abnormal bone ossification	23534	TNPO3	ORPHA:186
HP:0011849	Abnormal bone ossification	3592	IL12A	ORPHA:186
HP:0011849	Abnormal bone ossification	6689	SPIB	ORPHA:186
HP:0011849	Abnormal bone ossification	5450	POU2AF1	ORPHA:186
HP:0011849	Abnormal bone ossification	9966	TNFSF15	ORPHA:186
HP:0011849	Abnormal bone ossification	79258	MMEL1	ORPHA:186
HP:0011849	Abnormal bone ossification	3663	IRF5	ORPHA:186
HP:0011849	Abnormal bone ossification	100147744	RNU7-1	OMIM:619487
HP:0011849	Abnormal bone ossification	285590	SH3PXD2B	OMIM:249420
HP:0011849	Abnormal bone ossification	79983	POF1B	OMIM:300604
HP:0011849	Abnormal bone ossification	3295	HSD17B4	OMIM:233400
HP:0011849	Abnormal bone ossification	126792	B3GALT6	OMIM:271640
HP:0011849	Abnormal bone ossification	126792	B3GALT6	ORPHA:536467
HP:0011849	Abnormal bone ossification	55252	ASXL2	OMIM:617190
HP:0011849	Abnormal bone ossification	11014	KDELR2	OMIM:619131
HP:0011849	Abnormal bone ossification	8815	BANF1	OMIM:614008
HP:0011849	Abnormal bone ossification	55811	ADCY10	ORPHA:2197
HP:0011849	Abnormal bone ossification	166929	SGMS2	OMIM:126550
HP:0011849	Abnormal bone ossification	26229	B3GAT3	OMIM:245600
HP:0011849	Abnormal bone ossification	80169	CTC1	OMIM:612199
HP:0011849	Abnormal bone ossification	80169	CTC1	ORPHA:1775
HP:0011849	Abnormal bone ossification	79650	USB1	ORPHA:1775
HP:0011849	Abnormal bone ossification	55135	WRAP53	ORPHA:1775
HP:0011849	Abnormal bone ossification	51750	RTEL1	ORPHA:1775
HP:0011849	Abnormal bone ossification	4869	NPM1	ORPHA:1775
HP:0011849	Abnormal bone ossification	5073	PARN	ORPHA:1775
HP:0011849	Abnormal bone ossification	7298	TYMS	ORPHA:1775
HP:0011849	Abnormal bone ossification	10892	MALT1	OMIM:615468
HP:0011849	Abnormal bone ossification	7390	UROS	ORPHA:79277
HP:0011849	Abnormal bone ossification	2623	GATA1	ORPHA:79277
HP:0011849	Abnormal bone ossification	121340	SP7	OMIM:613849
HP:0011849	Abnormal bone ossification	9361	LONP1	OMIM:600373
HP:0011849	Abnormal bone ossification	8720	MBTPS1	OMIM:618392
HP:0011849	Abnormal bone ossification	3549	IHH	OMIM:607778
HP:0011849	Abnormal bone ossification	633	BGN	OMIM:300106
HP:0011849	Abnormal bone ossification	23233	EXOC6B	OMIM:618395
HP:0011849	Abnormal bone ossification	2137	EXTL3	OMIM:617425
HP:0011849	Abnormal bone ossification	55650	PIGV	OMIM:239300
HP:0011849	Abnormal bone ossification	65992	DDRGK1	OMIM:602557
HP:0011849	Abnormal bone ossification	65992	DDRGK1	ORPHA:93352
HP:0011849	Abnormal bone ossification	1184	CLCN5	OMIM:300554
HP:0011849	Abnormal bone ossification	1184	CLCN5	OMIM:300009
HP:0011849	Abnormal bone ossification	142680	SLC34A3	OMIM:241530
HP:0011849	Abnormal bone ossification	1594	CYP27B1	ORPHA:289157
HP:0011849	Abnormal bone ossification	1594	CYP27B1	OMIM:264700
HP:0011849	Abnormal bone ossification	120227	CYP2R1	ORPHA:289157
HP:0011849	Abnormal bone ossification	120227	CYP2R1	OMIM:600081
HP:0011849	Abnormal bone ossification	23761	PISD	OMIM:618889
HP:0011849	Abnormal bone ossification	1299	COL9A3	OMIM:600969
HP:0011849	Abnormal bone ossification	51025	PAM16	OMIM:613320
HP:0011849	Abnormal bone ossification	7421	VDR	OMIM:277440
HP:0011849	Abnormal bone ossification	406932	MIR140	OMIM:618618
HP:0011849	Abnormal bone ossification	374654	KIF7	ORPHA:166024
HP:0011849	Abnormal bone ossification	2879	GPX4	OMIM:250220
HP:0011849	Abnormal bone ossification	139285	AMER1	OMIM:300373
HP:0011849	Abnormal bone ossification	23387	SIK3	OMIM:618162
HP:0011849	Abnormal bone ossification	54	ACP5	OMIM:607944
HP:0011849	Abnormal bone ossification	4854	NOTCH3	OMIM:130720
HP:0011849	Abnormal bone ossification	79639	TMEM53	OMIM:619727
HP:0011849	Abnormal bone ossification	56172	ANKH	OMIM:123000
HP:0011849	Abnormal bone ossification	6885	MAP3K7	ORPHA:1826
HP:0011849	Abnormal bone ossification	6521	SLC4A1	OMIM:611590
HP:0011849	Abnormal bone ossification	570	BAAT	OMIM:619232
HP:0011849	Abnormal bone ossification	4952	OCRL	OMIM:309000
HP:0011849	Abnormal bone ossification	6718	AKR1D1	ORPHA:79303
HP:0011849	Abnormal bone ossification	9414	TJP2	OMIM:607748
HP:0011849	Abnormal bone ossification	50617	ATP6V0A4	OMIM:602722
HP:0011849	Abnormal bone ossification	6850	SYK	OMIM:619381
HP:0011849	Abnormal bone ossification	1175	AP2S1	OMIM:600740
HP:0011849	Abnormal bone ossification	59341	TRPV4	ORPHA:2635
HP:0011849	Abnormal bone ossification	59341	TRPV4	OMIM:156530
HP:0011849	Abnormal bone ossification	59341	TRPV4	ORPHA:93314
HP:0011849	Abnormal bone ossification	1836	SLC26A2	ORPHA:93298
HP:0011849	Abnormal bone ossification	2317	FLNB	ORPHA:56305
HP:0011849	Abnormal bone ossification	84068	SLC10A7	OMIM:618363
HP:0011849	Abnormal bone ossification	29072	SETD2	OMIM:616831
HP:0011849	Abnormal bone ossification	54187	NANS	OMIM:610442
HP:0011849	Abnormal bone ossification	64131	XYLT1	OMIM:615777
HP:0011849	Abnormal bone ossification	347734	SLC35B2	OMIM:620269
HP:0011849	Abnormal bone ossification	10568	SLC34A2	ORPHA:60025
HP:0011849	Abnormal bone ossification	5727	PTCH1	OMIM:109400
HP:0011849	Abnormal bone ossification	55733	HHAT	ORPHA:1422
HP:0011849	Abnormal bone ossification	5934	RBL2	OMIM:619690
HP:0011849	Abnormal bone ossification	1436	CSF1R	OMIM:618476
HP:0011849	Abnormal bone ossification	28962	OSTM1	ORPHA:85179
HP:0011849	Abnormal bone ossification	9321	TRIP11	OMIM:200600
HP:0011849	Abnormal bone ossification	6905	TBCE	OMIM:244460
HP:0011849	Abnormal bone ossification	6905	TBCE	ORPHA:93324
HP:0011849	Abnormal bone ossification	10484	SEC23A	ORPHA:50814
HP:0011849	Abnormal bone ossification	4000	LMNA	ORPHA:1662
HP:0011849	Abnormal bone ossification	10269	ZMPSTE24	ORPHA:1662
HP:0011849	Abnormal bone ossification	2132	EXT2	ORPHA:52022
HP:0011849	Abnormal bone ossification	60529	ALX4	ORPHA:52022
HP:0011849	Abnormal bone ossification	51317	PHF21A	ORPHA:52022
HP:0011849	Abnormal bone ossification	10013	HDAC6	OMIM:300863
HP:0011849	Abnormal bone ossification	79796	ALG9	OMIM:263210
HP:0011849	Abnormal bone ossification	202018	TAPT1	OMIM:616897
HP:0011849	Abnormal bone ossification	4352	MPL	ORPHA:3319
HP:0011849	Abnormal bone ossification	7066	THPO	ORPHA:3319
HP:0011849	Abnormal bone ossification	860	RUNX2	ORPHA:1452
HP:0011849	Abnormal bone ossification	84168	ANTXR1	ORPHA:2067
HP:0011849	Abnormal bone ossification	4853	NOTCH2	ORPHA:955
HP:0011849	Abnormal bone ossification	60386	SLC25A19	ORPHA:99742
HP:0011849	Abnormal bone ossification	63901	FAM111A	ORPHA:93325
HP:0011849	Abnormal bone ossification	63901	FAM111A	OMIM:602361
HP:0011849	Abnormal bone ossification	29957	SLC25A24	ORPHA:2963
HP:0011849	Abnormal bone ossification	64175	P3H1	OMIM:610915
HP:0011849	Abnormal bone ossification	9790	BMS1	ORPHA:1114
HP:0011849	Abnormal bone ossification	5339	PLEC	ORPHA:1114
HP:0011849	Abnormal bone ossification	10054	UBA2	ORPHA:1114
HP:0011849	Abnormal bone ossification	3691	ITGB4	ORPHA:1114
HP:0011849	Abnormal bone ossification	54567	DLL4	ORPHA:1114
HP:0011849	Abnormal bone ossification	84172	POLR1B	ORPHA:861
HP:0011849	Abnormal bone ossification	9533	POLR1C	ORPHA:861
HP:0011849	Abnormal bone ossification	51082	POLR1D	ORPHA:861
HP:0011849	Abnormal bone ossification	6949	TCOF1	ORPHA:861
HP:0011849	Abnormal bone ossification	9657	IQCB1	ORPHA:3156
HP:0011849	Abnormal bone ossification	10806	SDCCAG8	ORPHA:3156
HP:0011849	Abnormal bone ossification	27130	INVS	ORPHA:3156
HP:0011849	Abnormal bone ossification	80184	CEP290	ORPHA:3156
HP:0011849	Abnormal bone ossification	4867	NPHP1	ORPHA:3156
HP:0011849	Abnormal bone ossification	261734	NPHP4	ORPHA:3156
HP:0011849	Abnormal bone ossification	27031	NPHP3	ORPHA:3156
HP:0011849	Abnormal bone ossification	22897	CEP164	ORPHA:3156
HP:0011849	Abnormal bone ossification	1501	CTNND2	ORPHA:281
HP:0011849	Abnormal bone ossification	9037	SEMA5A	ORPHA:281
HP:0011849	Abnormal bone ossification	9723	SEMA3E	ORPHA:138
HP:0011849	Abnormal bone ossification	79879	CCDC134	OMIM:619795
HP:0011849	Abnormal bone ossification	6424	SFRP4	OMIM:265900
HP:0011849	Abnormal bone ossification	2767	GNA11	ORPHA:428
HP:0011849	Abnormal bone ossification	2767	GNA11	ORPHA:1556
HP:0011849	Abnormal bone ossification	846	CASR	ORPHA:428
HP:0011849	Abnormal bone ossification	7305	TYROBP	ORPHA:2770
HP:0011849	Abnormal bone ossification	5184	PEPD	ORPHA:742
HP:0011849	Abnormal bone ossification	9131	AIFM1	ORPHA:83629
HP:0011849	Abnormal bone ossification	221496	LEMD2	OMIM:619322
HP:0011849	Abnormal bone ossification	4773	NFATC2	OMIM:620232
HP:0011849	Abnormal bone ossification	151188	ARL6IP6	ORPHA:1556
HP:0011849	Abnormal bone ossification	6335	SCN9A	ORPHA:970
HP:0011849	Abnormal bone ossification	65125	WNK1	ORPHA:970
HP:0011849	Abnormal bone ossification	54463	RETREG1	ORPHA:970
HP:0011849	Abnormal bone ossification	547	KIF1A	ORPHA:970
HP:0011849	Abnormal bone ossification	1027	CDKN1B	ORPHA:652
HP:0011849	Abnormal bone ossification	1026	CDKN1A	ORPHA:652
HP:0011849	Abnormal bone ossification	1030	CDKN2B	ORPHA:652
HP:0011849	Abnormal bone ossification	1031	CDKN2C	ORPHA:652
HP:0011849	Abnormal bone ossification	4693	NDP	ORPHA:891
HP:0011849	Abnormal bone ossification	1499	CTNNB1	ORPHA:891
HP:0011849	Abnormal bone ossification	23554	TSPAN12	ORPHA:891
HP:0011849	Abnormal bone ossification	79797	ZNF408	ORPHA:891
HP:0011849	Abnormal bone ossification	8322	FZD4	ORPHA:891
HP:0011849	Abnormal bone ossification	55898	UNC45A	OMIM:619377
HP:0011849	Abnormal bone ossification	672	BRCA1	ORPHA:84
HP:0011849	Abnormal bone ossification	10459	MAD2L2	ORPHA:84
HP:0011849	Abnormal bone ossification	7516	XRCC2	ORPHA:84
HP:0011849	Abnormal bone ossification	29089	UBE2T	ORPHA:84
HP:0011849	Abnormal bone ossification	675	BRCA2	ORPHA:84
HP:0011849	Abnormal bone ossification	55120	FANCL	ORPHA:84
HP:0011849	Abnormal bone ossification	2177	FANCD2	ORPHA:84
HP:0011849	Abnormal bone ossification	2175	FANCA	ORPHA:84
HP:0011849	Abnormal bone ossification	2187	FANCB	ORPHA:84
HP:0011849	Abnormal bone ossification	2176	FANCC	ORPHA:84
HP:0011849	Abnormal bone ossification	2178	FANCE	ORPHA:84
HP:0011849	Abnormal bone ossification	2188	FANCF	ORPHA:84
HP:0011849	Abnormal bone ossification	2189	FANCG	ORPHA:84
HP:0011849	Abnormal bone ossification	5888	RAD51	ORPHA:84
HP:0011849	Abnormal bone ossification	5889	RAD51C	ORPHA:84
HP:0011849	Abnormal bone ossification	55159	RFWD3	ORPHA:84
HP:0011849	Abnormal bone ossification	83990	BRIP1	ORPHA:84
HP:0011849	Abnormal bone ossification	57697	FANCM	ORPHA:84
HP:0011849	Abnormal bone ossification	79728	PALB2	ORPHA:84
HP:0011849	Abnormal bone ossification	84464	SLX4	ORPHA:84
HP:0011849	Abnormal bone ossification	2072	ERCC4	ORPHA:84
HP:0011849	Abnormal bone ossification	55215	FANCI	ORPHA:84
HP:0011849	Abnormal bone ossification	8481	OFD1	ORPHA:2750
HP:0011849	Abnormal bone ossification	51608	GET4	OMIM:620200
HP:0011849	Abnormal bone ossification	2717	GLA	ORPHA:324
HP:0011849	Abnormal bone ossification	3081	HGD	ORPHA:56
HP:0011849	Abnormal bone ossification	114548	NLRP3	ORPHA:1451
HP:0011849	Abnormal bone ossification	8883	NAE1	OMIM:620210
HP:0011849	Abnormal bone ossification	10371	SEMA3A	ORPHA:478
HP:0011849	Abnormal bone ossification	79625	NDNF	ORPHA:478
HP:0011849	Abnormal bone ossification	389549	FEZF1	ORPHA:478
HP:0011849	Abnormal bone ossification	1630	DCC	ORPHA:478
HP:0011849	Abnormal bone ossification	3730	ANOS1	ORPHA:478
HP:0011849	Abnormal bone ossification	6663	SOX10	ORPHA:478
HP:0011849	Abnormal bone ossification	285025	CCDC141	ORPHA:478
HP:0011849	Abnormal bone ossification	5728	PTEN	ORPHA:137608
HP:0011849	Abnormal bone ossification	4322	MMP13	ORPHA:2501
HP:0011849	Abnormal bone ossification	7415	VCP	ORPHA:329475
HP:0011849	Abnormal bone ossification	3955	LFNG	OMIM:609813
HP:0011849	Abnormal bone ossification	249	ALPL	OMIM:241500
HP:0011849	Abnormal bone ossification	6628	SNRPB	OMIM:117650
HP:0011849	Abnormal bone ossification	5251	PHEX	OMIM:307800
HP:0011849	Abnormal bone ossification	1497	CTNS	OMIM:219800
HP:0011849	Abnormal bone ossification	3172	HNF4A	ORPHA:263455
HP:0011849	Abnormal bone ossification	5442	POLRMT	OMIM:619743
HP:0011849	Abnormal bone ossification	137682	NDUFAF6	OMIM:618913
HP:0011849	Abnormal bone ossification	137682	NDUFAF6	ORPHA:3337
HP:0011849	Abnormal bone ossification	4665	NAB2	ORPHA:2126
HP:0011849	Abnormal bone ossification	6778	STAT6	ORPHA:2126
HP:0011849	Abnormal bone ossification	8074	FGF23	OMIM:193100
HP:0011849	Abnormal bone ossification	1962	EHHADH	ORPHA:3337
HP:0011849	Abnormal bone ossification	2628	GATM	ORPHA:3337
HP:0011849	Abnormal bone ossification	54808	DYM	OMIM:223800
HP:0011849	Abnormal bone ossification	8905	AP1S2	OMIM:304340
HP:0011849	Abnormal bone ossification	1855	DVL1	OMIM:616331
HP:0011849	Abnormal bone ossification	5530	PPP3CA	OMIM:618265
HP:0011849	Abnormal bone ossification	27152	INTU	OMIM:617925
HP:0011849	Abnormal bone ossification	79770	TXNDC15	OMIM:619879
HP:0011849	Abnormal bone ossification	7476	WNT7A	OMIM:276820
HP:0011849	Abnormal bone ossification	5479	PPIB	OMIM:259440
HP:0011849	Abnormal bone ossification	9791	PTDSS1	OMIM:151050
HP:0011849	Abnormal bone ossification	29893	PSMC3IP	ORPHA:243
HP:0011849	Abnormal bone ossification	171568	POLR3H	ORPHA:243
HP:0011849	Abnormal bone ossification	2516	NR5A1	ORPHA:243
HP:0011849	Abnormal bone ossification	125150	ZSWIM7	ORPHA:243
HP:0011849	Abnormal bone ossification	9210	BMP15	ORPHA:243
HP:0011849	Abnormal bone ossification	57122	NUP107	ORPHA:243
HP:0011849	Abnormal bone ossification	23514	SPIDR	ORPHA:243
HP:0011849	Abnormal bone ossification	2492	FSHR	ORPHA:243
HP:0011849	Abnormal bone ossification	56945	MRPS22	ORPHA:243
HP:0011849	Abnormal bone ossification	646	BNC1	ORPHA:243
HP:0011849	Abnormal bone ossification	5626	PROP1	ORPHA:95494
HP:0011849	Abnormal bone ossification	5626	PROP1	ORPHA:90695
HP:0011849	Abnormal bone ossification	2736	GLI2	ORPHA:95494
HP:0011849	Abnormal bone ossification	89884	LHX4	ORPHA:95494
HP:0011849	Abnormal bone ossification	3170	FOXA2	ORPHA:95494
HP:0011849	Abnormal bone ossification	5449	POU1F1	ORPHA:95494
HP:0011849	Abnormal bone ossification	8820	HESX1	ORPHA:95494
HP:0011849	Abnormal bone ossification	5015	OTX2	ORPHA:95494
HP:0011849	Abnormal bone ossification	6658	SOX3	ORPHA:90695
HP:0011849	Abnormal bone ossification	10312	TCIRG1	ORPHA:210110
HP:0011849	Abnormal bone ossification	1186	CLCN7	ORPHA:210110
HP:0011849	Abnormal bone ossification	9842	PLEKHM1	ORPHA:210110
HP:0011849	Abnormal bone ossification	6522	SLC4A2	OMIM:620366
HP:0011849	Abnormal bone ossification	50964	SOST	OMIM:122860
HP:0011849	Abnormal bone ossification	8878	SQSTM1	OMIM:167250
HP:0011849	Abnormal bone ossification	8675	STX16	ORPHA:94089
HP:0011849	Abnormal bone ossification	23516	SLC39A14	OMIM:144755
HP:0011849	Abnormal bone ossification	1277	COL1A1	OMIM:259420
HP:0011849	Abnormal bone ossification	1278	COL1A2	OMIM:259420
HP:0011849	Abnormal bone ossification	3835	KIF22	OMIM:603546
HP:0011849	Abnormal bone ossification	3756	KCNH1	ORPHA:420561
HP:0011849	Abnormal bone ossification	9469	CHST3	OMIM:143095
HP:0011849	Abnormal bone ossification	2719	GPC3	OMIM:312870
HP:0011849	Abnormal bone ossification	2239	GPC4	OMIM:312870
HP:0011849	Abnormal bone ossification	26040	SETBP1	OMIM:269150
HP:0011849	Abnormal bone ossification	2184	FAH	ORPHA:882
HP:0011849	Abnormal bone ossification	1758	DMP1	ORPHA:289176
HP:0011849	Abnormal bone ossification	5167	ENPP1	ORPHA:289176
HP:0011849	Abnormal bone ossification	168667	BMPER	OMIM:608022
HP:0011849	Abnormal bone ossification	9896	FIG4	OMIM:216340
HP:0011849	Abnormal bone ossification	9896	FIG4	ORPHA:3472
HP:0011849	Abnormal bone ossification	6662	SOX9	OMIM:114290
HP:0011849	Abnormal bone ossification	55697	VAC14	ORPHA:3472
HP:0011849	Abnormal bone ossification	23594	ORC6	OMIM:613803
HP:0011849	Abnormal bone ossification	4998	ORC1	OMIM:224690
HP:0011849	Abnormal bone ossification	1300	COL10A1	ORPHA:174
HP:0011849	Abnormal bone ossification	10225	CD96	OMIM:211750
HP:0011849	Abnormal bone ossification	5745	PTH1R	OMIM:600002
HP:0011849	Abnormal bone ossification	3209	HOXA13	OMIM:140000
HP:0011849	Abnormal bone ossification	4148	MATN3	OMIM:607078
HP:0011849	Abnormal bone ossification	23169	SLC35D1	OMIM:269250
HP:0011849	Abnormal bone ossification	23169	SLC35D1	ORPHA:3144
HP:0011849	Abnormal bone ossification	3636	INPPL1	ORPHA:3144
HP:0011849	Abnormal bone ossification	124583	CANT1	OMIM:251450
HP:0011849	Abnormal bone ossification	10682	EBP	OMIM:302960
HP:0011849	Abnormal bone ossification	9451	EIF2AK3	OMIM:226980
HP:0011849	Abnormal bone ossification	145258	GSC	OMIM:602471
HP:0011849	Abnormal bone ossification	10804	GJB6	ORPHA:477
HP:0011849	Abnormal bone ossification	2706	GJB2	ORPHA:477
HP:0011849	Abnormal bone ossification	79848	CSPP1	ORPHA:397715
HP:0011849	Abnormal bone ossification	9786	KIAA0586	ORPHA:397715
HP:0011849	Abnormal bone ossification	8022	LHX3	ORPHA:226307
HP:0011849	Abnormal bone ossification	405753	DUOXA2	ORPHA:95716
HP:0011849	Abnormal bone ossification	6528	SLC5A5	ORPHA:95716
HP:0011849	Abnormal bone ossification	7038	TG	ORPHA:95716
HP:0011849	Abnormal bone ossification	7173	TPO	ORPHA:95716
HP:0011849	Abnormal bone ossification	389434	IYD	ORPHA:95716
HP:0011849	Abnormal bone ossification	50506	DUOX2	ORPHA:95716
HP:0011849	Abnormal bone ossification	7253	TSHR	ORPHA:90673
HP:0011849	Abnormal bone ossification	7252	TSHB	ORPHA:90674
HP:0011849	Abnormal bone ossification	23592	LEMD3	ORPHA:166119
HP:0011849	Abnormal bone ossification	55112	DYNC2I1	ORPHA:93271
HP:0011849	Abnormal bone ossification	57560	IFT80	ORPHA:93271
HP:0011849	Abnormal bone ossification	57539	WDR35	ORPHA:93271
HP:0011849	Abnormal bone ossification	79659	DYNC2H1	ORPHA:93271
HP:0011849	Abnormal bone ossification	89891	DYNC2I2	ORPHA:93271
HP:0011849	Abnormal bone ossification	3930	LBR	ORPHA:1426
HP:0011849	Abnormal bone ossification	1311	COMP	ORPHA:750
HP:0011849	Abnormal bone ossification	55325	UFSP2	ORPHA:2114
HP:0011849	Abnormal bone ossification	415	ARSL	ORPHA:79345
HP:0011849	Abnormal bone ossification	368	ABCC6	ORPHA:51608
HP:0011849	Abnormal bone ossification	8200	GDF5	ORPHA:93384
HP:0011849	Abnormal bone ossification	658	BMPR1B	ORPHA:93384
HP:0011849	Abnormal bone ossification	2697	GJA1	OMIM:218400
HP:0011849	Abnormal bone ossification	1161	ERCC8	OMIM:216400
HP:0011849	Abnormal bone ossification	10847	SRCAP	OMIM:136140
HP:0011849	Abnormal bone ossification	5573	PRKAR1A	ORPHA:950
HP:0011849	Abnormal bone ossification	5573	PRKAR1A	OMIM:101800
HP:0011849	Abnormal bone ossification	5144	PDE4D	ORPHA:950
HP:0011849	Abnormal bone ossification	4921	DDR2	OMIM:271665
HP:0011849	Abnormal bone ossification	57020	VPS35L	OMIM:619135
HP:0011849	Abnormal bone ossification	4256	MGP	OMIM:245150
HP:0011849	Abnormal bone ossification	2677	GGCX	OMIM:277450
HP:0011849	Abnormal bone ossification	5190	PEX6	OMIM:614862
HP:0011849	Abnormal bone ossification	5190	PEX6	ORPHA:912
HP:0011849	Abnormal bone ossification	50814	NSDHL	OMIM:308050
HP:0011849	Abnormal bone ossification	8504	PEX3	OMIM:614882
HP:0011849	Abnormal bone ossification	8504	PEX3	ORPHA:912
HP:0011849	Abnormal bone ossification	5828	PEX2	OMIM:614866
HP:0011849	Abnormal bone ossification	5828	PEX2	ORPHA:912
HP:0011849	Abnormal bone ossification	7068	THRB	OMIM:274300
HP:0011849	Abnormal bone ossification	4758	NEU1	OMIM:256550
HP:0011849	Abnormal bone ossification	5191	PEX7	OMIM:215100
HP:0011849	Abnormal bone ossification	2990	GUSB	ORPHA:584
HP:0011849	Abnormal bone ossification	1717	DHCR7	OMIM:270400
HP:0011849	Abnormal bone ossification	8540	AGPS	OMIM:600121
HP:0011849	Abnormal bone ossification	8443	GNPAT	OMIM:222765
HP:0011849	Abnormal bone ossification	5189	PEX1	OMIM:601539
HP:0011849	Abnormal bone ossification	5189	PEX1	ORPHA:912
HP:0011849	Abnormal bone ossification	5189	PEX1	OMIM:214100
HP:0011849	Abnormal bone ossification	5192	PEX10	OMIM:614870
HP:0011849	Abnormal bone ossification	5192	PEX10	ORPHA:912
HP:0011849	Abnormal bone ossification	55670	PEX26	OMIM:614872
HP:0011849	Abnormal bone ossification	55670	PEX26	ORPHA:912
HP:0011849	Abnormal bone ossification	9409	PEX16	OMIM:614876
HP:0011849	Abnormal bone ossification	9409	PEX16	ORPHA:912
HP:0011849	Abnormal bone ossification	5193	PEX12	OMIM:614859
HP:0011849	Abnormal bone ossification	5193	PEX12	ORPHA:912
HP:0011849	Abnormal bone ossification	5824	PEX19	ORPHA:912
HP:0011849	Abnormal bone ossification	8799	PEX11B	ORPHA:912
HP:0011849	Abnormal bone ossification	5830	PEX5	ORPHA:912
HP:0011849	Abnormal bone ossification	5194	PEX13	ORPHA:912
HP:0011849	Abnormal bone ossification	5195	PEX14	ORPHA:912
HP:0011849	Abnormal bone ossification	388015	RTL1	ORPHA:96334
HP:0011849	Abnormal bone ossification	8788	DLK1	ORPHA:96334
HP:0011849	Abnormal bone ossification	55384	MEG3	ORPHA:96334
HP:0011849	Abnormal bone ossification	6399	TRAPPC2	ORPHA:93284
HP:0011849	Abnormal bone ossification	2316	FLNA	OMIM:300244
HP:0011849	Abnormal bone ossification	8091	HMGA2	ORPHA:94063
HP:0011849	Abnormal bone ossification	189	AGXT	OMIM:259900
HP:0011849	Abnormal bone ossification	6916	TBXAS1	OMIM:231095
HP:0011849	Abnormal bone ossification	1747	DLX3	OMIM:190320
HP:0011849	Abnormal bone ossification	1747	DLX3	ORPHA:3352
HP:0011849	Abnormal bone ossification	56975	FAM20C	OMIM:259775
HP:0011849	Abnormal bone ossification	9663	LPIN2	ORPHA:77297
HP:0011849	Abnormal bone ossification	5604	MAP2K1	OMIM:155950
HP:0011849	Abnormal bone ossification	1513	CTSK	OMIM:265800
HP:0011849	Abnormal bone ossification	1513	CTSK	ORPHA:763
HP:0011849	Abnormal bone ossification	4160	MC4R	OMIM:618406
HP:0011849	Abnormal bone ossification	55315	SLC29A3	ORPHA:1782
HP:0011849	Abnormal bone ossification	4038	LRP4	ORPHA:3152
HP:0011849	Abnormal bone ossification	1718	DHCR24	ORPHA:35107
HP:0011849	Abnormal bone ossification	29887	SNX10	OMIM:615085
HP:0011849	Abnormal bone ossification	29887	SNX10	ORPHA:667
HP:0011849	Abnormal bone ossification	83706	FERMT3	OMIM:612840
HP:0011849	Abnormal bone ossification	4286	MITF	OMIM:617306
HP:0011849	Abnormal bone ossification	760	CA2	OMIM:259730
HP:0011849	Abnormal bone ossification	760	CA2	ORPHA:2785
HP:0011849	Abnormal bone ossification	8600	TNFSF11	OMIM:259710
HP:0011849	Abnormal bone ossification	8600	TNFSF11	ORPHA:667
HP:0011849	Abnormal bone ossification	2260	FGFR1	ORPHA:2645
HP:0011849	Abnormal bone ossification	2335	FN1	ORPHA:93315
HP:0011849	Abnormal bone ossification	92344	GORAB	ORPHA:2078
HP:0011849	Abnormal bone ossification	5831	PYCR1	ORPHA:2078
HP:0011849	Abnormal bone ossification	79087	ALG12	ORPHA:79324
HP:0011849	Abnormal bone ossification	3417	IDH1	ORPHA:99646
HP:0011849	Abnormal bone ossification	53834	FGFRL1	OMIM:194190
HP:0011849	Abnormal bone ossification	1487	CTBP1	OMIM:194190
HP:0011849	Abnormal bone ossification	3954	LETM1	OMIM:194190
HP:0011849	Abnormal bone ossification	7468	NSD2	OMIM:194190
HP:0011849	Abnormal bone ossification	10815	CPLX1	OMIM:194190
HP:0011849	Abnormal bone ossification	4907	NT5E	OMIM:211800
HP:0011849	Abnormal bone ossification	2778	GNAS	ORPHA:79443
HP:0011849	Abnormal bone ossification	2778	GNAS	ORPHA:79444
HP:0011849	Abnormal bone ossification	2778	GNAS	ORPHA:79445
HP:0011849	Abnormal bone ossification	90	ACVR1	OMIM:135100
HP:0011849	Abnormal bone ossification	90	ACVR1	ORPHA:337
HP:0011849	Abnormal bone ossification	55768	NGLY1	ORPHA:404454
HP:0011849	Abnormal bone ossification	579	NKX3-2	OMIM:613330
HP:0011849	Abnormal bone ossification	55603	TENT5A	OMIM:617952
HP:0011849	Abnormal bone ossification	5654	HTRA1	ORPHA:199354
HP:0011849	Abnormal bone ossification	6023	RMRP	ORPHA:175
HP:0011849	Abnormal bone ossification	100151683	RNU4ATAC	ORPHA:2636
HP:0011849	Abnormal bone ossification	1280	COL2A1	ORPHA:94068
HP:0011849	Abnormal bone ossification	1280	COL2A1	ORPHA:93346
HP:0011849	Abnormal bone ossification	1302	COL11A2	ORPHA:1427
HP:0011849	Abnormal bone ossification	7473	WNT3	ORPHA:3301
HP:0011849	Abnormal bone ossification	340419	RSPO2	ORPHA:3301
HP:0011849	Abnormal bone ossification	3339	HSPG2	ORPHA:800
HP:0011849	Abnormal bone ossification	4041	LRP5	ORPHA:2790
HP:0011849	Abnormal bone ossification	4041	LRP5	OMIM:144750
HP:0011849	Abnormal bone ossification	79705	LRRK1	OMIM:615198
HP:0011842	Abnormal skeletal morphology	112476	PRRT2	ORPHA:98810
HP:0011842	Abnormal skeletal morphology	25953	PNKD	ORPHA:98810
HP:0011842	Abnormal skeletal morphology	3975	LHX1	ORPHA:261265
HP:0011842	Abnormal skeletal morphology	5172	SLC26A4	ORPHA:95720
HP:0011842	Abnormal skeletal morphology	5172	SLC26A4	ORPHA:95713
HP:0011842	Abnormal skeletal morphology	23229	ARHGEF9	ORPHA:163985
HP:0011842	Abnormal skeletal morphology	23229	ARHGEF9	OMIM:300607
HP:0011842	Abnormal skeletal morphology	4860	PNP	OMIM:613179
HP:0011842	Abnormal skeletal morphology	3115	HLA-DPB1	ORPHA:900
HP:0011842	Abnormal skeletal morphology	5657	PRTN3	ORPHA:900
HP:0011842	Abnormal skeletal morphology	3113	HLA-DPA1	ORPHA:900
HP:0011842	Abnormal skeletal morphology	1536	CYBB	ORPHA:379
HP:0011842	Abnormal skeletal morphology	4688	NCF2	ORPHA:379
HP:0011842	Abnormal skeletal morphology	1535	CYBA	ORPHA:379
HP:0011842	Abnormal skeletal morphology	4689	NCF4	ORPHA:379
HP:0011842	Abnormal skeletal morphology	79415	CYBC1	ORPHA:379
HP:0011842	Abnormal skeletal morphology	5994	RFXAP	ORPHA:572
HP:0011842	Abnormal skeletal morphology	5993	RFX5	ORPHA:572
HP:0011842	Abnormal skeletal morphology	8625	RFXANK	ORPHA:572
HP:0011842	Abnormal skeletal morphology	3394	IRF8	OMIM:226990
HP:0011842	Abnormal skeletal morphology	7852	CXCR4	ORPHA:51636
HP:0011842	Abnormal skeletal morphology	3321	IGSF3	OMIM:149700
HP:0011842	Abnormal skeletal morphology	253959	RALGAPA1	OMIM:618797
HP:0011842	Abnormal skeletal morphology	23495	TNFRSF13B	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	4790	NFKB1	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	4791	NFKB2	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	115650	TNFRSF13C	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	1380	CR2	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	8742	TNFSF12	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	930	CD19	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	29851	ICOS	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	931	MS4A1	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	975	CD81	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	359948	IRF2BP2	ORPHA:1572
HP:0011842	Abnormal skeletal morphology	10771	ZMYND11	OMIM:616083
HP:0011842	Abnormal skeletal morphology	4858	NOVA2	OMIM:618859
HP:0011842	Abnormal skeletal morphology	51569	UFM1	OMIM:617899
HP:0011842	Abnormal skeletal morphology	477	ATP1A2	OMIM:619602
HP:0011842	Abnormal skeletal morphology	477	ATP1A2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	84520	GON7	OMIM:619603
HP:0011842	Abnormal skeletal morphology	10111	RAD50	OMIM:613078
HP:0011842	Abnormal skeletal morphology	55621	TRMT1	OMIM:618302
HP:0011842	Abnormal skeletal morphology	54828	BCAS3	OMIM:619641
HP:0011842	Abnormal skeletal morphology	2232	FDXR	ORPHA:543470
HP:0011842	Abnormal skeletal morphology	5917	RARS1	OMIM:616140
HP:0011842	Abnormal skeletal morphology	5917	RARS1	ORPHA:438114
HP:0011842	Abnormal skeletal morphology	54916	TMEM260	OMIM:617478
HP:0011842	Abnormal skeletal morphology	120	ADD3	OMIM:617008
HP:0011842	Abnormal skeletal morphology	3155	HMGCL	ORPHA:20
HP:0011842	Abnormal skeletal morphology	3155	HMGCL	OMIM:246450
HP:0011842	Abnormal skeletal morphology	154881	KCTD7	OMIM:611726
HP:0011842	Abnormal skeletal morphology	154881	KCTD7	ORPHA:263516
HP:0011842	Abnormal skeletal morphology	3054	HCFC1	OMIM:309541
HP:0011842	Abnormal skeletal morphology	3431	SP110	OMIM:235550
HP:0011842	Abnormal skeletal morphology	3431	SP110	ORPHA:79124
HP:0011842	Abnormal skeletal morphology	3028	HSD17B10	ORPHA:391428
HP:0011842	Abnormal skeletal morphology	27107	ZBTB11	OMIM:618383
HP:0011842	Abnormal skeletal morphology	8452	CUL3	OMIM:619239
HP:0011842	Abnormal skeletal morphology	201595	STT3B	ORPHA:370924
HP:0011842	Abnormal skeletal morphology	201595	STT3B	OMIM:615597
HP:0011842	Abnormal skeletal morphology	81615	TMEM163	OMIM:620243
HP:0011842	Abnormal skeletal morphology	5138	PDE2A	OMIM:619150
HP:0011842	Abnormal skeletal morphology	26960	NBEA	OMIM:619157
HP:0011842	Abnormal skeletal morphology	9640	ZNF592	ORPHA:83472
HP:0011842	Abnormal skeletal morphology	3242	HPD	OMIM:140350
HP:0011842	Abnormal skeletal morphology	338657	CENATAC	OMIM:620153
HP:0011842	Abnormal skeletal morphology	4718	NDUFC2	OMIM:619170
HP:0011842	Abnormal skeletal morphology	1738	DLD	ORPHA:2394
HP:0011842	Abnormal skeletal morphology	1738	DLD	OMIM:246900
HP:0011842	Abnormal skeletal morphology	10367	MICU1	ORPHA:401768
HP:0011842	Abnormal skeletal morphology	10367	MICU1	OMIM:615673
HP:0011842	Abnormal skeletal morphology	84947	SERAC1	OMIM:614739
HP:0011842	Abnormal skeletal morphology	54084	TSPEAR	OMIM:620173
HP:0011842	Abnormal skeletal morphology	1737	DLAT	OMIM:245348
HP:0011842	Abnormal skeletal morphology	1737	DLAT	ORPHA:79244
HP:0011842	Abnormal skeletal morphology	158	ADSL	ORPHA:46
HP:0011842	Abnormal skeletal morphology	158	ADSL	OMIM:103050
HP:0011842	Abnormal skeletal morphology	51567	TDP2	OMIM:616949
HP:0011842	Abnormal skeletal morphology	9837	GINS1	OMIM:617827
HP:0011842	Abnormal skeletal morphology	79840	NHEJ1	ORPHA:169079
HP:0011842	Abnormal skeletal morphology	5723	PSPH	ORPHA:79350
HP:0011842	Abnormal skeletal morphology	5723	PSPH	OMIM:614023
HP:0011842	Abnormal skeletal morphology	55180	LINS1	OMIM:614340
HP:0011842	Abnormal skeletal morphology	6697	SPR	ORPHA:70594
HP:0011842	Abnormal skeletal morphology	6697	SPR	OMIM:612716
HP:0011842	Abnormal skeletal morphology	953	ENTPD1	OMIM:615683
HP:0011842	Abnormal skeletal morphology	953	ENTPD1	ORPHA:401810
HP:0011842	Abnormal skeletal morphology	54802	TRIT1	OMIM:617873
HP:0011842	Abnormal skeletal morphology	8086	AAAS	OMIM:231550
HP:0011842	Abnormal skeletal morphology	8086	AAAS	ORPHA:869
HP:0011842	Abnormal skeletal morphology	51075	TMX2	OMIM:618730
HP:0011842	Abnormal skeletal morphology	65057	ACD	OMIM:616553
HP:0011842	Abnormal skeletal morphology	65057	ACD	ORPHA:3322
HP:0011842	Abnormal skeletal morphology	6873	TAF2	OMIM:615599
HP:0011842	Abnormal skeletal morphology	1355	COX15	OMIM:615119
HP:0011842	Abnormal skeletal morphology	5361	PLXNA1	OMIM:619955
HP:0011842	Abnormal skeletal morphology	80153	EDC3	OMIM:616460
HP:0011842	Abnormal skeletal morphology	816	CAMK2B	OMIM:617799
HP:0011842	Abnormal skeletal morphology	5155	PDGFB	ORPHA:1980
HP:0011842	Abnormal skeletal morphology	9213	XPR1	ORPHA:1980
HP:0011842	Abnormal skeletal morphology	57462	MYORG	ORPHA:1980
HP:0011842	Abnormal skeletal morphology	6575	SLC20A2	ORPHA:1980
HP:0011842	Abnormal skeletal morphology	58494	JAM2	ORPHA:1980
HP:0011842	Abnormal skeletal morphology	3737	KCNA2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	1759	DNM1	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	8120	AP3B2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	8120	AP3B2	OMIM:617276
HP:0011842	Abnormal skeletal morphology	10991	SLC38A3	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	10991	SLC38A3	OMIM:619881
HP:0011842	Abnormal skeletal morphology	1917	EEF1A2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	1917	EEF1A2	OMIM:616393
HP:0011842	Abnormal skeletal morphology	2561	GABRB2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	79876	UBA5	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	6328	SCN3A	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	6328	SCN3A	OMIM:617935
HP:0011842	Abnormal skeletal morphology	6328	SCN3A	OMIM:617938
HP:0011842	Abnormal skeletal morphology	2558	GABRA5	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	2906	GRIN2D	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	2906	GRIN2D	OMIM:617162
HP:0011842	Abnormal skeletal morphology	10659	CELF2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	774	CACNA1B	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	1213	CLTC	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	23334	SZT2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	3745	KCNB1	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	284111	SLC13A5	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	284111	SLC13A5	OMIM:615905
HP:0011842	Abnormal skeletal morphology	25977	NECAP1	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	22866	CNKSR2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	2555	GABRA2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	2555	GABRA2	OMIM:618557
HP:0011842	Abnormal skeletal morphology	55152	DALRD3	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	55152	DALRD3	OMIM:618910
HP:0011842	Abnormal skeletal morphology	4915	NTRK2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	25973	PARS2	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	64801	ARV1	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	79947	DHDDS	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	2257	FGF12	ORPHA:442835
HP:0011842	Abnormal skeletal morphology	7862	BRPF1	OMIM:617333
HP:0011842	Abnormal skeletal morphology	5860	QDPR	ORPHA:226
HP:0011842	Abnormal skeletal morphology	5860	QDPR	OMIM:261630
HP:0011842	Abnormal skeletal morphology	7385	UQCRC2	OMIM:615160
HP:0011842	Abnormal skeletal morphology	9922	IQSEC1	OMIM:618687
HP:0011842	Abnormal skeletal morphology	133686	NADK2	OMIM:616034
HP:0011842	Abnormal skeletal morphology	133686	NADK2	ORPHA:431361
HP:0011842	Abnormal skeletal morphology	8803	SUCLA2	ORPHA:1933
HP:0011842	Abnormal skeletal morphology	498	ATP5F1A	OMIM:616045
HP:0011842	Abnormal skeletal morphology	4729	NDUFV2	OMIM:618229
HP:0011842	Abnormal skeletal morphology	4729	NDUFV2	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4695	NDUFA2	OMIM:618235
HP:0011842	Abnormal skeletal morphology	340665	CYP26C1	ORPHA:398189
HP:0011842	Abnormal skeletal morphology	2898	GRIK2	OMIM:619580
HP:0011842	Abnormal skeletal morphology	10524	KAT5	OMIM:619103
HP:0011842	Abnormal skeletal morphology	8635	RNASET2	OMIM:612951
HP:0011842	Abnormal skeletal morphology	55526	DHTKD1	OMIM:204750
HP:0011842	Abnormal skeletal morphology	1727	CYB5R3	ORPHA:621
HP:0011842	Abnormal skeletal morphology	1727	CYB5R3	OMIM:250800
HP:0011842	Abnormal skeletal morphology	9895	TECPR2	ORPHA:320385
HP:0011842	Abnormal skeletal morphology	9895	TECPR2	OMIM:615031
HP:0011842	Abnormal skeletal morphology	3739	KCNA4	OMIM:618284
HP:0011842	Abnormal skeletal morphology	3735	KARS1	OMIM:619147
HP:0011842	Abnormal skeletal morphology	8665	EIF3F	OMIM:618295
HP:0011842	Abnormal skeletal morphology	10134	BCAP31	OMIM:300475
HP:0011842	Abnormal skeletal morphology	10134	BCAP31	ORPHA:369939
HP:0011842	Abnormal skeletal morphology	57176	VARS2	OMIM:615917
HP:0011842	Abnormal skeletal morphology	5689	PSMB1	OMIM:620038
HP:0011842	Abnormal skeletal morphology	10472	ZBTB18	ORPHA:36367
HP:0011842	Abnormal skeletal morphology	10472	ZBTB18	OMIM:612337
HP:0011842	Abnormal skeletal morphology	83475	DOHH	OMIM:620066
HP:0011842	Abnormal skeletal morphology	5591	PRKDC	OMIM:615966
HP:0011842	Abnormal skeletal morphology	92154	MTSS2	OMIM:620086
HP:0011842	Abnormal skeletal morphology	197322	ACSF3	ORPHA:289504
HP:0011842	Abnormal skeletal morphology	6307	MSMO1	OMIM:616834
HP:0011842	Abnormal skeletal morphology	1828	DSG1	OMIM:615508
HP:0011842	Abnormal skeletal morphology	549	AUH	ORPHA:67046
HP:0011842	Abnormal skeletal morphology	6301	SARS1	OMIM:617709
HP:0011842	Abnormal skeletal morphology	55997	CFC1	OMIM:605376
HP:0011842	Abnormal skeletal morphology	128989	TANGO2	OMIM:616878
HP:0011842	Abnormal skeletal morphology	128989	TANGO2	ORPHA:480864
HP:0011842	Abnormal skeletal morphology	54805	CNNM2	OMIM:616418
HP:0011842	Abnormal skeletal morphology	9439	MED23	OMIM:614249
HP:0011842	Abnormal skeletal morphology	6777	STAT5B	OMIM:618985
HP:0011842	Abnormal skeletal morphology	387787	LIPT2	OMIM:617668
HP:0011842	Abnormal skeletal morphology	1716	DGUOK	OMIM:251880
HP:0011842	Abnormal skeletal morphology	788	SLC25A20	ORPHA:159
HP:0011842	Abnormal skeletal morphology	55773	TBC1D23	OMIM:617695
HP:0011842	Abnormal skeletal morphology	51692	CPSF3	OMIM:619876
HP:0011842	Abnormal skeletal morphology	116115	ZNF526	OMIM:619877
HP:0011842	Abnormal skeletal morphology	4285	MIPEP	OMIM:617228
HP:0011842	Abnormal skeletal morphology	8565	YARS1	OMIM:619418
HP:0011842	Abnormal skeletal morphology	55656	INTS8	OMIM:618572
HP:0011842	Abnormal skeletal morphology	84894	LINGO1	OMIM:618103
HP:0011842	Abnormal skeletal morphology	123606	NIPA1	ORPHA:261183
HP:0011842	Abnormal skeletal morphology	7283	TUBG1	ORPHA:261183
HP:0011842	Abnormal skeletal morphology	7283	TUBG1	OMIM:615412
HP:0011842	Abnormal skeletal morphology	81614	NIPA2	ORPHA:261183
HP:0011842	Abnormal skeletal morphology	1120	CHKB	OMIM:602541
HP:0011842	Abnormal skeletal morphology	3778	KCNMA1	OMIM:618596
HP:0011842	Abnormal skeletal morphology	27341	RRP7A	OMIM:619453
HP:0011842	Abnormal skeletal morphology	6821	SUOX	OMIM:272300
HP:0011842	Abnormal skeletal morphology	84065	TMEM222	OMIM:619470
HP:0011842	Abnormal skeletal morphology	7284	TUFM	OMIM:610678
HP:0011842	Abnormal skeletal morphology	5805	PTS	OMIM:261640
HP:0011842	Abnormal skeletal morphology	63899	NSUN3	OMIM:619012
HP:0011842	Abnormal skeletal morphology	54936	ADPRS	OMIM:618170
HP:0011842	Abnormal skeletal morphology	123263	MTFMT	OMIM:614947
HP:0011842	Abnormal skeletal morphology	80055	PGAP1	OMIM:615802
HP:0011842	Abnormal skeletal morphology	57582	KCNT1	OMIM:614959
HP:0011842	Abnormal skeletal morphology	23325	WASHC4	OMIM:615817
HP:0011842	Abnormal skeletal morphology	7156	TOP3A	OMIM:618097
HP:0011842	Abnormal skeletal morphology	3176	HNMT	OMIM:616739
HP:0011842	Abnormal skeletal morphology	3796	KIF2A	OMIM:615411
HP:0011842	Abnormal skeletal morphology	100506658	OCLN	ORPHA:1229
HP:0011842	Abnormal skeletal morphology	100506658	OCLN	OMIM:251290
HP:0011842	Abnormal skeletal morphology	81689	ISCA1	OMIM:617613
HP:0011842	Abnormal skeletal morphology	64857	PLEKHG2	OMIM:616763
HP:0011842	Abnormal skeletal morphology	60528	ELAC2	OMIM:615440
HP:0011842	Abnormal skeletal morphology	3832	KIF11	ORPHA:2526
HP:0011842	Abnormal skeletal morphology	3832	KIF11	OMIM:152950
HP:0011842	Abnormal skeletal morphology	7991	TUSC3	OMIM:611093
HP:0011842	Abnormal skeletal morphology	8192	CLPP	OMIM:614129
HP:0011842	Abnormal skeletal morphology	8884	SLC5A6	OMIM:618973
HP:0011842	Abnormal skeletal morphology	55367	PIDD1	OMIM:619827
HP:0011842	Abnormal skeletal morphology	91942	NDUFAF2	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	51300	TIMMDC1	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4716	NDUFB10	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	284184	NDUFAF8	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	55863	TMEM126B	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4535	MT-ND1	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4537	MT-ND3	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4694	NDUFA1	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4720	NDUFS2	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4726	NDUFS6	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	126328	NDUFA11	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4709	NDUFB3	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	80224	NUBPL	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	374291	NDUFS7	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4700	NDUFA6	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4536	MT-ND2	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4715	NDUFB9	ORPHA:2609
HP:0011842	Abnormal skeletal morphology	4056	LTC4S	OMIM:614037
HP:0011842	Abnormal skeletal morphology	472	ATM	OMIM:208900
HP:0011842	Abnormal skeletal morphology	5610	EIF2AK2	OMIM:618877
HP:0011842	Abnormal skeletal morphology	3781	KCNN2	OMIM:619725
HP:0011842	Abnormal skeletal morphology	2590	GALNT2	OMIM:618885
HP:0011842	Abnormal skeletal morphology	5442	POLRMT	OMIM:619743
HP:0011842	Abnormal skeletal morphology	25930	PTPN23	OMIM:618890
HP:0011842	Abnormal skeletal morphology	339983	NAT8L	OMIM:614063
HP:0011842	Abnormal skeletal morphology	8879	SGPL1	OMIM:617575
HP:0011842	Abnormal skeletal morphology	8021	NUP214	OMIM:618426
HP:0011842	Abnormal skeletal morphology	57724	EPG5	OMIM:242840
HP:0011842	Abnormal skeletal morphology	51728	POLR3K	OMIM:619310
HP:0011842	Abnormal skeletal morphology	85476	GFM1	OMIM:609060
HP:0011842	Abnormal skeletal morphology	8869	ST3GAL5	OMIM:609056
HP:0011842	Abnormal skeletal morphology	79641	ROGDI	OMIM:226750
HP:0011842	Abnormal skeletal morphology	1781	DYNC1I2	OMIM:618492
HP:0011842	Abnormal skeletal morphology	191	AHCY	ORPHA:88618
HP:0011842	Abnormal skeletal morphology	29926	GMPPA	ORPHA:869
HP:0011842	Abnormal skeletal morphology	10681	GNB5	OMIM:617182
HP:0011842	Abnormal skeletal morphology	79143	MBOAT7	OMIM:617188
HP:0011842	Abnormal skeletal morphology	4702	NDUFA8	OMIM:619272
HP:0011842	Abnormal skeletal morphology	81555	YIPF5	OMIM:619278
HP:0011842	Abnormal skeletal morphology	55532	SLC30A10	ORPHA:309854
HP:0011842	Abnormal skeletal morphology	36	ACADSB	OMIM:610006
HP:0011842	Abnormal skeletal morphology	197257	LDHD	OMIM:245450
HP:0011842	Abnormal skeletal morphology	375748	ERCC6L2	OMIM:615715
HP:0011842	Abnormal skeletal morphology	162417	NAGS	ORPHA:927
HP:0011842	Abnormal skeletal morphology	4173	MCM4	OMIM:609981
HP:0011842	Abnormal skeletal morphology	55187	VPS13D	OMIM:607317
HP:0011842	Abnormal skeletal morphology	5429	POLH	OMIM:278750
HP:0011842	Abnormal skeletal morphology	2058	EPRS1	OMIM:617951
HP:0011842	Abnormal skeletal morphology	20	ABCA2	OMIM:618808
HP:0011842	Abnormal skeletal morphology	1729	DIAPH1	OMIM:616632
HP:0011842	Abnormal skeletal morphology	27010	TPK1	OMIM:614458
HP:0011842	Abnormal skeletal morphology	2584	GALK1	ORPHA:79237
HP:0011842	Abnormal skeletal morphology	3704	ITPA	OMIM:616647
HP:0011842	Abnormal skeletal morphology	23397	NCAPH	OMIM:617985
HP:0011842	Abnormal skeletal morphology	25974	MMACHC	ORPHA:79282
HP:0011842	Abnormal skeletal morphology	25974	MMACHC	OMIM:277400
HP:0011842	Abnormal skeletal morphology	23001	WDFY3	OMIM:617520
HP:0011842	Abnormal skeletal morphology	79587	CARS2	OMIM:616672
HP:0011842	Abnormal skeletal morphology	5052	PRDX1	OMIM:277400
HP:0011842	Abnormal skeletal morphology	91452	ACBD5	OMIM:618863
HP:0011842	Abnormal skeletal morphology	51660	MPC1	OMIM:614741
HP:0011842	Abnormal skeletal morphology	4719	NDUFS1	OMIM:618226
HP:0011842	Abnormal skeletal morphology	22845	DOLK	ORPHA:91131
HP:0011842	Abnormal skeletal morphology	132158	GLYCTK	ORPHA:941
HP:0011842	Abnormal skeletal morphology	122553	TRAPPC6B	OMIM:617862
HP:0011842	Abnormal skeletal morphology	5859	QARS1	OMIM:615760
HP:0011842	Abnormal skeletal morphology	116461	TSEN15	OMIM:617026
HP:0011842	Abnormal skeletal morphology	116461	TSEN15	ORPHA:2524
HP:0011842	Abnormal skeletal morphology	79042	TSEN34	ORPHA:2524
HP:0011842	Abnormal skeletal morphology	80746	TSEN2	ORPHA:2524
HP:0011842	Abnormal skeletal morphology	80746	TSEN2	OMIM:612389
HP:0011842	Abnormal skeletal morphology	4190	MDH1	OMIM:618959
HP:0011842	Abnormal skeletal morphology	6334	SCN8A	OMIM:614558
HP:0011842	Abnormal skeletal morphology	50	ACO2	OMIM:614559
HP:0011842	Abnormal skeletal morphology	54862	CC2D1A	OMIM:608443
HP:0011842	Abnormal skeletal morphology	2891	GRIA2	OMIM:618917
HP:0011842	Abnormal skeletal morphology	63908	NAPB	OMIM:620033
HP:0011842	Abnormal skeletal morphology	440	ASNS	OMIM:615574
HP:0011842	Abnormal skeletal morphology	6709	SPTAN1	OMIM:613477
HP:0011842	Abnormal skeletal morphology	2806	GOT2	OMIM:618721
HP:0011842	Abnormal skeletal morphology	83480	PUS3	ORPHA:488627
HP:0011842	Abnormal skeletal morphology	55163	PNPO	OMIM:610090
HP:0011842	Abnormal skeletal morphology	10844	TUBGCP2	OMIM:618737
HP:0011842	Abnormal skeletal morphology	27445	PCLO	OMIM:608027
HP:0011842	Abnormal skeletal morphology	91801	ALKBH8	OMIM:618504
HP:0011842	Abnormal skeletal morphology	51111	KMT5B	OMIM:617788
HP:0011842	Abnormal skeletal morphology	10730	YME1L1	OMIM:617302
HP:0011842	Abnormal skeletal morphology	57680	CHD8	OMIM:615032
HP:0011842	Abnormal skeletal morphology	100128927	ZBTB42	OMIM:616248
HP:0011842	Abnormal skeletal morphology	51341	ZBTB7A	OMIM:619769
HP:0011842	Abnormal skeletal morphology	79944	L2HGDH	ORPHA:79314
HP:0011842	Abnormal skeletal morphology	3912	LAMB1	OMIM:615191
HP:0011842	Abnormal skeletal morphology	4723	NDUFV1	OMIM:618225
HP:0011842	Abnormal skeletal morphology	92335	STRADA	ORPHA:500533
HP:0011842	Abnormal skeletal morphology	92335	STRADA	OMIM:611087
HP:0011842	Abnormal skeletal morphology	347733	TUBB2B	ORPHA:467166
HP:0011842	Abnormal skeletal morphology	57551	TAOK1	OMIM:619575
HP:0011842	Abnormal skeletal morphology	220296	HEPACAM	OMIM:613925
HP:0011842	Abnormal skeletal morphology	220296	HEPACAM	OMIM:613926
HP:0011842	Abnormal skeletal morphology	220296	HEPACAM	OMIM:604004
HP:0011842	Abnormal skeletal morphology	10653	SPINT2	OMIM:270420
HP:0011842	Abnormal skeletal morphology	23112	TNRC6B	OMIM:619243
HP:0011842	Abnormal skeletal morphology	288	ANK3	ORPHA:356996
HP:0011842	Abnormal skeletal morphology	6853	SYN1	ORPHA:85294
HP:0011842	Abnormal skeletal morphology	6853	SYN1	OMIM:300491
HP:0011842	Abnormal skeletal morphology	777	CACNA1E	OMIM:618285
HP:0011842	Abnormal skeletal morphology	4781	NFIB	OMIM:618286
HP:0011842	Abnormal skeletal morphology	1496	CTNNA2	OMIM:618174
HP:0011842	Abnormal skeletal morphology	55294	FBXW7	OMIM:620012
HP:0011842	Abnormal skeletal morphology	3070	HELLS	ORPHA:2268
HP:0011842	Abnormal skeletal morphology	22859	ADGRL1	OMIM:620065
HP:0011842	Abnormal skeletal morphology	23590	PDSS1	OMIM:614651
HP:0011842	Abnormal skeletal morphology	6907	TBL1X	OMIM:301033
HP:0011842	Abnormal skeletal morphology	3747	KCNC2	OMIM:619913
HP:0011842	Abnormal skeletal morphology	23209	MLC1	OMIM:604004
HP:0011842	Abnormal skeletal morphology	37	ACADVL	ORPHA:26793
HP:0011842	Abnormal skeletal morphology	25915	NDUFAF3	OMIM:618240
HP:0011842	Abnormal skeletal morphology	56160	NSMCE3	OMIM:617241
HP:0011842	Abnormal skeletal morphology	6888	TALDO1	OMIM:606003
HP:0011842	Abnormal skeletal morphology	2108	ETFA	OMIM:231680
HP:0011842	Abnormal skeletal morphology	2109	ETFB	OMIM:231680
HP:0011842	Abnormal skeletal morphology	2110	ETFDH	OMIM:231680
HP:0011842	Abnormal skeletal morphology	7174	TPP2	OMIM:619220
HP:0011842	Abnormal skeletal morphology	23118	TAB2	ORPHA:228410
HP:0011842	Abnormal skeletal morphology	7701	ZNF142	OMIM:618425
HP:0011842	Abnormal skeletal morphology	5700	PSMC1	OMIM:620071
HP:0011842	Abnormal skeletal morphology	9342	SNAP29	ORPHA:66631
HP:0011842	Abnormal skeletal morphology	23221	RHOBTB2	OMIM:618004
HP:0011842	Abnormal skeletal morphology	9997	SCO2	OMIM:604377
HP:0011842	Abnormal skeletal morphology	9320	TRIP12	OMIM:617752
HP:0011842	Abnormal skeletal morphology	10128	LRPPRC	OMIM:220111
HP:0011842	Abnormal skeletal morphology	6535	SLC6A8	OMIM:300352
HP:0011842	Abnormal skeletal morphology	6535	SLC6A8	ORPHA:52503
HP:0011842	Abnormal skeletal morphology	54507	ADAMTSL4	ORPHA:1885
HP:0011842	Abnormal skeletal morphology	2296	FOXC1	OMIM:602482
HP:0011842	Abnormal skeletal morphology	90161	HS6ST2	OMIM:301025
HP:0011842	Abnormal skeletal morphology	6898	TAT	ORPHA:28378
HP:0011842	Abnormal skeletal morphology	5702	PSMC3	OMIM:619354
HP:0011842	Abnormal skeletal morphology	178	AGL	OMIM:232400
HP:0011842	Abnormal skeletal morphology	9130	FAM50A	OMIM:300261
HP:0011842	Abnormal skeletal morphology	318	NUDT2	OMIM:619844
HP:0011842	Abnormal skeletal morphology	129563	DIS3L2	ORPHA:2849
HP:0011842	Abnormal skeletal morphology	9915	ARNT2	OMIM:615926
HP:0011842	Abnormal skeletal morphology	51319	RSRC1	OMIM:618402
HP:0011842	Abnormal skeletal morphology	79184	BRCC3	ORPHA:280679
HP:0011842	Abnormal skeletal morphology	7841	MOGS	OMIM:606056
HP:0011842	Abnormal skeletal morphology	7841	MOGS	ORPHA:79330
HP:0011842	Abnormal skeletal morphology	23265	EXOC7	OMIM:619072
HP:0011842	Abnormal skeletal morphology	9841	ZBTB24	OMIM:614069
HP:0011842	Abnormal skeletal morphology	147912	SIX5	ORPHA:107
HP:0011842	Abnormal skeletal morphology	53335	BCL11A	OMIM:617101
HP:0011842	Abnormal skeletal morphology	9993	DGCR2	OMIM:192430
HP:0011842	Abnormal skeletal morphology	8220	ESS2	OMIM:192430
HP:0011842	Abnormal skeletal morphology	8214	DGCR6	OMIM:192430
HP:0011842	Abnormal skeletal morphology	54487	DGCR8	OMIM:192430
HP:0011842	Abnormal skeletal morphology	79791	FBXO31	OMIM:615979
HP:0011842	Abnormal skeletal morphology	51013	EXOSC1	OMIM:619304
HP:0011842	Abnormal skeletal morphology	30000	TNPO2	OMIM:619556
HP:0011842	Abnormal skeletal morphology	54517	PUS7	OMIM:618342
HP:0011842	Abnormal skeletal morphology	5915	RARB	OMIM:615524
HP:0011842	Abnormal skeletal morphology	2304	FOXE1	ORPHA:1226
HP:0011842	Abnormal skeletal morphology	9758	FRMPD4	OMIM:300983
HP:0011842	Abnormal skeletal morphology	8943	AP3D1	OMIM:617050
HP:0011842	Abnormal skeletal morphology	57061	HYMAI	ORPHA:96191
HP:0011842	Abnormal skeletal morphology	5325	PLAGL1	ORPHA:96191
HP:0011842	Abnormal skeletal morphology	54796	BNC2	ORPHA:93110
HP:0011842	Abnormal skeletal morphology	80267	EDEM3	OMIM:619493
HP:0011842	Abnormal skeletal morphology	200205	IBA57	OMIM:615330
HP:0011842	Abnormal skeletal morphology	8516	ITGA8	OMIM:191830
HP:0011842	Abnormal skeletal morphology	3340	NDST1	OMIM:616116
HP:0011842	Abnormal skeletal morphology	54345	SOX18	OMIM:137940
HP:0011842	Abnormal skeletal morphology	388662	SLC6A17	ORPHA:457212
HP:0011842	Abnormal skeletal morphology	388662	SLC6A17	OMIM:616269
HP:0011842	Abnormal skeletal morphology	6901	TAFAZZIN	OMIM:302060
HP:0011842	Abnormal skeletal morphology	11141	IL1RAPL1	OMIM:300143
HP:0011842	Abnormal skeletal morphology	1460	CSNK2B	OMIM:618732
HP:0011842	Abnormal skeletal morphology	5308	PITX2	ORPHA:782
HP:0011842	Abnormal skeletal morphology	5308	PITX2	OMIM:180500
HP:0011842	Abnormal skeletal morphology	7314	UBB	ORPHA:99772
HP:0011842	Abnormal skeletal morphology	57822	GRHL3	ORPHA:99772
HP:0011842	Abnormal skeletal morphology	4487	MSX1	ORPHA:199306
HP:0011842	Abnormal skeletal morphology	1739	DLG1	ORPHA:199306
HP:0011842	Abnormal skeletal morphology	5156	PDGFRA	ORPHA:199306
HP:0011842	Abnormal skeletal morphology	9411	ARHGAP29	ORPHA:199306
HP:0011842	Abnormal skeletal morphology	1748	DLX4	ORPHA:199306
HP:0011842	Abnormal skeletal morphology	199221	DZIP1L	ORPHA:731
HP:0011842	Abnormal skeletal morphology	5314	PKHD1	ORPHA:731
HP:0011842	Abnormal skeletal morphology	3211	HOXB1	OMIM:614744
HP:0011842	Abnormal skeletal morphology	64220	STRA6	OMIM:601186
HP:0011842	Abnormal skeletal morphology	4174	MCM5	OMIM:617564
HP:0011842	Abnormal skeletal morphology	2248	FGF3	OMIM:610706
HP:0011842	Abnormal skeletal morphology	2248	FGF3	ORPHA:90024
HP:0011842	Abnormal skeletal morphology	1363	CPE	OMIM:619326
HP:0011842	Abnormal skeletal morphology	5236	PGM1	OMIM:614921
HP:0011842	Abnormal skeletal morphology	83483	PLVAP	OMIM:618183
HP:0011842	Abnormal skeletal morphology	3483	IGFALS	ORPHA:140941
HP:0011842	Abnormal skeletal morphology	2615	LRRC32	OMIM:619074
HP:0011842	Abnormal skeletal morphology	226	ALDOA	OMIM:611881
HP:0011842	Abnormal skeletal morphology	6182	MRPL12	OMIM:618951
HP:0011842	Abnormal skeletal morphology	1589	CYP21A2	OMIM:201910
HP:0011842	Abnormal skeletal morphology	6440	SFTPC	ORPHA:70587
HP:0011842	Abnormal skeletal morphology	21	ABCA3	ORPHA:70587
HP:0011842	Abnormal skeletal morphology	6439	SFTPB	ORPHA:70587
HP:0011842	Abnormal skeletal morphology	84282	RNF135	ORPHA:137634
HP:0011842	Abnormal skeletal morphology	368	ABCC6	OMIM:177850
HP:0011842	Abnormal skeletal morphology	5978	REST	OMIM:617626
HP:0011842	Abnormal skeletal morphology	84466	MEGF10	OMIM:614399
HP:0011842	Abnormal skeletal morphology	55154	MSTO1	OMIM:617675
HP:0011842	Abnormal skeletal morphology	55154	MSTO1	ORPHA:502423
HP:0011842	Abnormal skeletal morphology	23545	ATP6V0A2	ORPHA:2834
HP:0011842	Abnormal skeletal morphology	23545	ATP6V0A2	OMIM:278250
HP:0011842	Abnormal skeletal morphology	4763	NF1	ORPHA:363700
HP:0011842	Abnormal skeletal morphology	4763	NF1	OMIM:601321
HP:0011842	Abnormal skeletal morphology	4763	NF1	OMIM:162200
HP:0011842	Abnormal skeletal morphology	93627	TBCK	ORPHA:488632
HP:0011842	Abnormal skeletal morphology	3476	IGBP1	ORPHA:52055
HP:0011842	Abnormal skeletal morphology	3476	IGBP1	OMIM:300472
HP:0011842	Abnormal skeletal morphology	84665	MYPN	OMIM:617336
HP:0011842	Abnormal skeletal morphology	84665	MYPN	ORPHA:171881
HP:0011842	Abnormal skeletal morphology	9091	PIGQ	OMIM:618548
HP:0011842	Abnormal skeletal morphology	5605	MAP2K2	OMIM:615280
HP:0011842	Abnormal skeletal morphology	5605	MAP2K2	ORPHA:1340
HP:0011842	Abnormal skeletal morphology	26173	INTS1	OMIM:618571
HP:0011842	Abnormal skeletal morphology	1523	CUX1	OMIM:618330
HP:0011842	Abnormal skeletal morphology	79912	PYROXD1	OMIM:617258
HP:0011842	Abnormal skeletal morphology	128869	PIGU	OMIM:618590
HP:0011842	Abnormal skeletal morphology	6567	SLC16A2	OMIM:300523
HP:0011842	Abnormal skeletal morphology	6567	SLC16A2	ORPHA:59
HP:0011842	Abnormal skeletal morphology	51434	ANAPC7	OMIM:619699
HP:0011842	Abnormal skeletal morphology	92255	LMBRD2	OMIM:619694
HP:0011842	Abnormal skeletal morphology	7170	TPM3	OMIM:609284
HP:0011842	Abnormal skeletal morphology	7170	TPM3	ORPHA:171881
HP:0011842	Abnormal skeletal morphology	7170	TPM3	ORPHA:2020
HP:0011842	Abnormal skeletal morphology	5831	PYCR1	OMIM:612940
HP:0011842	Abnormal skeletal morphology	2010	EMD	OMIM:310300
HP:0011842	Abnormal skeletal morphology	2010	EMD	ORPHA:98863
HP:0011842	Abnormal skeletal morphology	2332	FMR1	OMIM:300624
HP:0011842	Abnormal skeletal morphology	51729	WBP11	OMIM:619227
HP:0011842	Abnormal skeletal morphology	23405	DICER1	OMIM:618272
HP:0011842	Abnormal skeletal morphology	9325	TRIP4	OMIM:617066
HP:0011842	Abnormal skeletal morphology	9325	TRIP4	ORPHA:486815
HP:0011842	Abnormal skeletal morphology	6872	TAF1	OMIM:300966
HP:0011842	Abnormal skeletal morphology	374354	NHLRC2	OMIM:618278
HP:0011842	Abnormal skeletal morphology	10220	GDF11	OMIM:619122
HP:0011842	Abnormal skeletal morphology	4617	MYF5	OMIM:618155
HP:0011842	Abnormal skeletal morphology	11014	KDELR2	OMIM:619131
HP:0011842	Abnormal skeletal morphology	10491	CRTAP	OMIM:610682
HP:0011842	Abnormal skeletal morphology	5479	PPIB	OMIM:259440
HP:0011842	Abnormal skeletal morphology	1073	CFL2	ORPHA:171436
HP:0011842	Abnormal skeletal morphology	4633	MYL2	ORPHA:2020
HP:0011842	Abnormal skeletal morphology	3679	ITGA7	ORPHA:2020
HP:0011842	Abnormal skeletal morphology	9200	HACD1	ORPHA:2020
HP:0011842	Abnormal skeletal morphology	8050	PDHX	OMIM:245349
HP:0011842	Abnormal skeletal morphology	79188	TMEM43	ORPHA:98853
HP:0011842	Abnormal skeletal morphology	23224	SYNE2	ORPHA:98853
HP:0011842	Abnormal skeletal morphology	9780	PIEZO1	OMIM:616843
HP:0011842	Abnormal skeletal morphology	4854	NOTCH3	OMIM:130720
HP:0011842	Abnormal skeletal morphology	4854	NOTCH3	ORPHA:2789
HP:0011842	Abnormal skeletal morphology	55969	RAB5IF	OMIM:616994
HP:0011842	Abnormal skeletal morphology	5430	POLR2A	OMIM:618603
HP:0011842	Abnormal skeletal morphology	79875	THSD4	OMIM:619825
HP:0011842	Abnormal skeletal morphology	5352	PLOD2	OMIM:609220
HP:0011842	Abnormal skeletal morphology	64412	GZF1	OMIM:617662
HP:0011842	Abnormal skeletal morphology	4758	NEU1	ORPHA:812
HP:0011842	Abnormal skeletal morphology	84572	GNPTG	OMIM:252605
HP:0011842	Abnormal skeletal morphology	137492	VPS37A	ORPHA:319199
HP:0011842	Abnormal skeletal morphology	137492	VPS37A	OMIM:614898
HP:0011842	Abnormal skeletal morphology	7345	UCHL1	OMIM:615491
HP:0011842	Abnormal skeletal morphology	55870	ASH1L	OMIM:617796
HP:0011842	Abnormal skeletal morphology	114034	TOE1	OMIM:614969
HP:0011842	Abnormal skeletal morphology	175	AGA	ORPHA:93
HP:0011842	Abnormal skeletal morphology	4311	MME	ORPHA:497764
HP:0011842	Abnormal skeletal morphology	4311	MME	OMIM:617018
HP:0011842	Abnormal skeletal morphology	55210	ATAD3A	ORPHA:496790
HP:0011842	Abnormal skeletal morphology	55210	ATAD3A	OMIM:617183
HP:0011842	Abnormal skeletal morphology	6558	SLC12A2	OMIM:619080
HP:0011842	Abnormal skeletal morphology	4982	TNFRSF11B	ORPHA:2801
HP:0011842	Abnormal skeletal morphology	256297	PTF1A	OMIM:609069
HP:0011842	Abnormal skeletal morphology	3039	HBA1	ORPHA:98791
HP:0011842	Abnormal skeletal morphology	3040	HBA2	ORPHA:98791
HP:0011842	Abnormal skeletal morphology	3852	KRT5	OMIM:619599
HP:0011842	Abnormal skeletal morphology	7343	UBTF	ORPHA:500180
HP:0011842	Abnormal skeletal morphology	60482	SLC5A7	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	1103	CHAT	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	6576	SLC25A1	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	6843	VAMP1	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	127833	SYT2	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	6572	SLC18A3	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	6616	SNAP25	ORPHA:98914
HP:0011842	Abnormal skeletal morphology	54676	GTPBP2	OMIM:617988
HP:0011842	Abnormal skeletal morphology	60681	FKBP10	OMIM:259450
HP:0011842	Abnormal skeletal morphology	203190	LGI3	OMIM:620007
HP:0011842	Abnormal skeletal morphology	129285	PPP1R21	OMIM:619383
HP:0011842	Abnormal skeletal morphology	9871	SEC24D	ORPHA:2050
HP:0011842	Abnormal skeletal morphology	2733	GLE1	ORPHA:1486
HP:0011842	Abnormal skeletal morphology	1131	CHRM3	ORPHA:2970
HP:0011842	Abnormal skeletal morphology	28514	DLL1	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	7050	TGIF1	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	4838	NODAL	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	7546	ZIC2	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	6491	STIL	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	2619	GAS1	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	84976	DISP1	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	8928	FOXH1	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	50937	CDON	ORPHA:280195
HP:0011842	Abnormal skeletal morphology	6911	TBX6	ORPHA:1797
HP:0011842	Abnormal skeletal morphology	267010	RNU12	OMIM:603116
HP:0011842	Abnormal skeletal morphology	8942	KYNU	OMIM:617661
HP:0011842	Abnormal skeletal morphology	1741	DLG3	OMIM:300850
HP:0011842	Abnormal skeletal morphology	23184	MESD	OMIM:618644
HP:0011842	Abnormal skeletal morphology	3675	ITGA3	OMIM:614748
HP:0011842	Abnormal skeletal morphology	2571	GAD1	OMIM:619124
HP:0011842	Abnormal skeletal morphology	390594	KBTBD13	ORPHA:171439
HP:0011842	Abnormal skeletal morphology	871	SERPINH1	OMIM:613848
HP:0011842	Abnormal skeletal morphology	4927	NUP88	OMIM:618393
HP:0011842	Abnormal skeletal morphology	11041	B4GAT1	OMIM:615287
HP:0011842	Abnormal skeletal morphology	4036	LRP2	OMIM:222448
HP:0011842	Abnormal skeletal morphology	10046	MAMLD1	ORPHA:456328
HP:0011842	Abnormal skeletal morphology	11274	USP18	OMIM:617397
HP:0011842	Abnormal skeletal morphology	55603	TENT5A	OMIM:617952
HP:0011842	Abnormal skeletal morphology	5826	ABCD4	OMIM:614857
HP:0011842	Abnormal skeletal morphology	6448	SGSH	OMIM:252900
HP:0011842	Abnormal skeletal morphology	138050	HGSNAT	OMIM:252930
HP:0011842	Abnormal skeletal morphology	4669	NAGLU	OMIM:252920
HP:0011842	Abnormal skeletal morphology	6909	TBX2	OMIM:618223
HP:0011842	Abnormal skeletal morphology	1000	CDH2	OMIM:618929
HP:0011842	Abnormal skeletal morphology	10801	SEPTIN9	ORPHA:2901
HP:0011842	Abnormal skeletal morphology	2294	FOXF1	OMIM:265380
HP:0011842	Abnormal skeletal morphology	4990	SIX6	OMIM:206900
HP:0011842	Abnormal skeletal morphology	6657	SOX2	OMIM:206900
HP:0011842	Abnormal skeletal morphology	5476	CTSA	ORPHA:351
HP:0011842	Abnormal skeletal morphology	26275	HIBCH	OMIM:250620
HP:0011842	Abnormal skeletal morphology	60561	RINT1	OMIM:618641
HP:0011842	Abnormal skeletal morphology	50485	SMARCAL1	ORPHA:1830
HP:0011842	Abnormal skeletal morphology	50485	SMARCAL1	OMIM:242900
HP:0011842	Abnormal skeletal morphology	84695	LOXL3	ORPHA:250984
HP:0011842	Abnormal skeletal morphology	100	ADA	OMIM:102700
HP:0011842	Abnormal skeletal morphology	7471	WNT1	OMIM:615220
HP:0011842	Abnormal skeletal morphology	55109	AGGF1	ORPHA:90308
HP:0011842	Abnormal skeletal morphology	1175	AP2S1	OMIM:600740
HP:0011842	Abnormal skeletal morphology	486	FXYD2	OMIM:154020
HP:0011842	Abnormal skeletal morphology	7125	TNNC2	OMIM:620161
HP:0011842	Abnormal skeletal morphology	6772	STAT1	OMIM:614162
HP:0011842	Abnormal skeletal morphology	6772	STAT1	ORPHA:391487
HP:0011842	Abnormal skeletal morphology	10043	TOM1	ORPHA:391487
HP:0011842	Abnormal skeletal morphology	595	CCND1	ORPHA:29073
HP:0011842	Abnormal skeletal morphology	1650	DDOST	OMIM:614507
HP:0011842	Abnormal skeletal morphology	1650	DDOST	ORPHA:300536
HP:0011842	Abnormal skeletal morphology	80067	DCAF17	ORPHA:3464
HP:0011842	Abnormal skeletal morphology	79991	STN1	OMIM:617341
HP:0011842	Abnormal skeletal morphology	9247	GCM2	OMIM:617343
HP:0011842	Abnormal skeletal morphology	9247	GCM2	ORPHA:99879
HP:0011842	Abnormal skeletal morphology	1991	ELANE	ORPHA:486
HP:0011842	Abnormal skeletal morphology	2672	GFI1	ORPHA:486
HP:0011842	Abnormal skeletal morphology	6809	STX3	OMIM:619445
HP:0011842	Abnormal skeletal morphology	6809	STX3	OMIM:619446
HP:0011842	Abnormal skeletal morphology	57520	HECW2	OMIM:617268
HP:0011842	Abnormal skeletal morphology	55033	FKBP14	OMIM:614557
HP:0011842	Abnormal skeletal morphology	55033	FKBP14	ORPHA:300179
HP:0011842	Abnormal skeletal morphology	551	AVP	OMIM:125700
HP:0011842	Abnormal skeletal morphology	55750	AGK	OMIM:212350
HP:0011842	Abnormal skeletal morphology	4547	MTTP	ORPHA:14
HP:0011842	Abnormal skeletal morphology	6557	SLC12A1	OMIM:601678
HP:0011842	Abnormal skeletal morphology	3758	KCNJ1	OMIM:241200
HP:0011842	Abnormal skeletal morphology	5205	ATP8B1	OMIM:211600
HP:0011842	Abnormal skeletal morphology	6514	SLC2A2	ORPHA:2088
HP:0011842	Abnormal skeletal morphology	6554	SLC10A1	OMIM:619256
HP:0011842	Abnormal skeletal morphology	4668	NAGA	OMIM:609241
HP:0011842	Abnormal skeletal morphology	4194	MDM4	OMIM:618849
HP:0011842	Abnormal skeletal morphology	2100	ESR2	OMIM:618187
HP:0011842	Abnormal skeletal morphology	80270	HSD3B7	ORPHA:79301
HP:0011842	Abnormal skeletal morphology	79577	CDC73	ORPHA:143
HP:0011842	Abnormal skeletal morphology	79577	CDC73	ORPHA:99880
HP:0011842	Abnormal skeletal morphology	50940	PDE11A	OMIM:610475
HP:0011842	Abnormal skeletal morphology	50940	PDE11A	ORPHA:189439
HP:0011842	Abnormal skeletal morphology	26012	NSMF	OMIM:614838
HP:0011842	Abnormal skeletal morphology	26012	NSMF	ORPHA:432
HP:0011842	Abnormal skeletal morphology	535	ATP6V0A1	OMIM:619971
HP:0011842	Abnormal skeletal morphology	2859	GPR35	ORPHA:171
HP:0011842	Abnormal skeletal morphology	10507	SEMA4D	ORPHA:171
HP:0011842	Abnormal skeletal morphology	4485	MST1	ORPHA:171
HP:0011842	Abnormal skeletal morphology	3117	HLA-DQA1	OMIM:212750
HP:0011842	Abnormal skeletal morphology	3119	HLA-DQB1	OMIM:212750
HP:0011842	Abnormal skeletal morphology	5095	PCCA	OMIM:606054
HP:0011842	Abnormal skeletal morphology	5096	PCCB	OMIM:606054
HP:0011842	Abnormal skeletal morphology	89780	WNT3A	ORPHA:85193
HP:0011842	Abnormal skeletal morphology	6845	VAMP7	ORPHA:251510
HP:0011842	Abnormal skeletal morphology	51741	WWOX	ORPHA:251510
HP:0011842	Abnormal skeletal morphology	4214	MAP3K1	ORPHA:251510
HP:0011842	Abnormal skeletal morphology	58524	DMRT3	ORPHA:251510
HP:0011842	Abnormal skeletal morphology	190	NR0B1	ORPHA:251510
HP:0011842	Abnormal skeletal morphology	9056	SLC7A7	ORPHA:470
HP:0011842	Abnormal skeletal morphology	9056	SLC7A7	OMIM:222700
HP:0011842	Abnormal skeletal morphology	213	ALB	OMIM:616000
HP:0011842	Abnormal skeletal morphology	8622	PDE8B	ORPHA:189439
HP:0011842	Abnormal skeletal morphology	79798	ARMC5	OMIM:615954
HP:0011842	Abnormal skeletal morphology	79798	ARMC5	ORPHA:189427
HP:0011842	Abnormal skeletal morphology	799	CALCR	OMIM:166710
HP:0011842	Abnormal skeletal morphology	8572	PDLIM4	OMIM:166710
HP:0011842	Abnormal skeletal morphology	6609	SMPD1	OMIM:257200
HP:0011842	Abnormal skeletal morphology	6609	SMPD1	ORPHA:77293
HP:0011842	Abnormal skeletal morphology	2947	GSTM3	ORPHA:586
HP:0011842	Abnormal skeletal morphology	2729	GCLC	ORPHA:586
HP:0011842	Abnormal skeletal morphology	1084	CEACAM3	ORPHA:586
HP:0011842	Abnormal skeletal morphology	6556	SLC11A1	ORPHA:586
HP:0011842	Abnormal skeletal morphology	51164	DCTN4	ORPHA:586
HP:0011842	Abnormal skeletal morphology	3783	KCNN4	ORPHA:586
HP:0011842	Abnormal skeletal morphology	1909	EDNRA	ORPHA:586
HP:0011842	Abnormal skeletal morphology	6550	SLC9A3	ORPHA:586
HP:0011842	Abnormal skeletal morphology	3162	HMOX1	ORPHA:586
HP:0011842	Abnormal skeletal morphology	115019	SLC26A9	ORPHA:586
HP:0011842	Abnormal skeletal morphology	11254	SLC6A14	ORPHA:586
HP:0011842	Abnormal skeletal morphology	5265	SERPINA1	ORPHA:586
HP:0011842	Abnormal skeletal morphology	22802	CLCA4	ORPHA:586
HP:0011842	Abnormal skeletal morphology	4680	CEACAM6	ORPHA:586
HP:0011842	Abnormal skeletal morphology	8733	GPAA1	ORPHA:529665
HP:0011842	Abnormal skeletal morphology	6714	SRC	OMIM:616937
HP:0011842	Abnormal skeletal morphology	5618	PRLR	ORPHA:397685
HP:0011842	Abnormal skeletal morphology	5836	PYGL	ORPHA:369
HP:0011842	Abnormal skeletal morphology	5256	PHKA2	ORPHA:264580
HP:0011842	Abnormal skeletal morphology	5261	PHKG2	ORPHA:264580
HP:0011842	Abnormal skeletal morphology	291	SLC25A4	ORPHA:254892
HP:0011842	Abnormal skeletal morphology	56652	TWNK	ORPHA:254892
HP:0011842	Abnormal skeletal morphology	11232	POLG2	ORPHA:254892
HP:0011842	Abnormal skeletal morphology	2796	GNRH1	ORPHA:432
HP:0011842	Abnormal skeletal morphology	2798	GNRHR	ORPHA:432
HP:0011842	Abnormal skeletal morphology	84634	KISS1R	ORPHA:432
HP:0011842	Abnormal skeletal morphology	6866	TAC3	ORPHA:432
HP:0011842	Abnormal skeletal morphology	3814	KISS1	ORPHA:432
HP:0011842	Abnormal skeletal morphology	2710	GK	OMIM:307030
HP:0011842	Abnormal skeletal morphology	5257	PHKB	ORPHA:79240
HP:0011842	Abnormal skeletal morphology	23395	LARS2	OMIM:615300
HP:0011842	Abnormal skeletal morphology	9368	NHERF1	OMIM:612287
HP:0011842	Abnormal skeletal morphology	3594	IL12RB1	ORPHA:186
HP:0011842	Abnormal skeletal morphology	6689	SPIB	ORPHA:186
HP:0011842	Abnormal skeletal morphology	5450	POU2AF1	ORPHA:186
HP:0011842	Abnormal skeletal morphology	9966	TNFSF15	ORPHA:186
HP:0011842	Abnormal skeletal morphology	79258	MMEL1	ORPHA:186
HP:0011842	Abnormal skeletal morphology	79983	POF1B	OMIM:300604
HP:0011842	Abnormal skeletal morphology	55811	ADCY10	ORPHA:2197
HP:0011842	Abnormal skeletal morphology	3575	IL7R	ORPHA:39041
HP:0011842	Abnormal skeletal morphology	3561	IL2RG	ORPHA:39041
HP:0011842	Abnormal skeletal morphology	6650	CAPN15	OMIM:619318
HP:0011842	Abnormal skeletal morphology	79783	SUGCT	ORPHA:35706
HP:0011842	Abnormal skeletal morphology	8558	CDK10	OMIM:617694
HP:0011842	Abnormal skeletal morphology	23137	SMC5	OMIM:620185
HP:0011842	Abnormal skeletal morphology	3655	ITGA6	ORPHA:79403
HP:0011842	Abnormal skeletal morphology	57538	ALPK3	OMIM:618052
HP:0011842	Abnormal skeletal morphology	10617	STAMBP	OMIM:614261
HP:0011842	Abnormal skeletal morphology	28981	IFT81	OMIM:617895
HP:0011842	Abnormal skeletal morphology	392255	GDF6	OMIM:617898
HP:0011842	Abnormal skeletal morphology	5238	PGM3	ORPHA:443811
HP:0011842	Abnormal skeletal morphology	55733	HHAT	OMIM:600092
HP:0011842	Abnormal skeletal morphology	1836	SLC26A2	ORPHA:56304
HP:0011842	Abnormal skeletal morphology	1836	SLC26A2	OMIM:226900
HP:0011842	Abnormal skeletal morphology	1836	SLC26A2	ORPHA:93307
HP:0011842	Abnormal skeletal morphology	9786	KIAA0586	ORPHA:397715
HP:0011842	Abnormal skeletal morphology	114803	MYSM1	ORPHA:508542
HP:0011842	Abnormal skeletal morphology	149775	GNAS-AS1	OMIM:603233
HP:0011842	Abnormal skeletal morphology	8675	STX16	OMIM:603233
HP:0011842	Abnormal skeletal morphology	2778	GNAS	OMIM:603233
HP:0011842	Abnormal skeletal morphology	2778	GNAS	ORPHA:79443
HP:0011842	Abnormal skeletal morphology	2778	GNAS	ORPHA:79444
HP:0011842	Abnormal skeletal morphology	2778	GNAS	ORPHA:79445
HP:0011842	Abnormal skeletal morphology	2778	GNAS	OMIM:612463
HP:0011842	Abnormal skeletal morphology	2778	GNAS	OMIM:612462
HP:0011842	Abnormal skeletal morphology	2778	GNAS	ORPHA:2762
HP:0011842	Abnormal skeletal morphology	2778	GNAS	OMIM:103580
HP:0011842	Abnormal skeletal morphology	10026	PIGK	OMIM:618879
HP:0011842	Abnormal skeletal morphology	28960	DCPS	OMIM:616459
HP:0011842	Abnormal skeletal morphology	57231	SNX14	ORPHA:397709
HP:0011842	Abnormal skeletal morphology	57231	SNX14	OMIM:616354
HP:0011842	Abnormal skeletal morphology	1513	CTSK	OMIM:265800
HP:0011842	Abnormal skeletal morphology	1513	CTSK	ORPHA:763
HP:0011842	Abnormal skeletal morphology	818	CAMK2G	OMIM:618522
HP:0011842	Abnormal skeletal morphology	54453	RIN2	OMIM:613075
HP:0011842	Abnormal skeletal morphology	54453	RIN2	ORPHA:217335
HP:0011842	Abnormal skeletal morphology	170691	ADAMTS17	OMIM:613195
HP:0011842	Abnormal skeletal morphology	9469	CHST3	OMIM:143095
HP:0011842	Abnormal skeletal morphology	9469	CHST3	ORPHA:263463
HP:0011842	Abnormal skeletal morphology	7994	KAT6A	ORPHA:457193
HP:0011842	Abnormal skeletal morphology	7994	KAT6A	OMIM:616268
HP:0011842	Abnormal skeletal morphology	84100	ARL6	OMIM:209900
HP:0011842	Abnormal skeletal morphology	84100	ARL6	OMIM:600151
HP:0011842	Abnormal skeletal morphology	79140	CCDC28B	OMIM:209900
HP:0011842	Abnormal skeletal morphology	582	BBS1	OMIM:209900
HP:0011842	Abnormal skeletal morphology	8036	SHOC2	ORPHA:2701
HP:0011842	Abnormal skeletal morphology	5500	PPP1CB	ORPHA:2701
HP:0011842	Abnormal skeletal morphology	63901	FAM111A	OMIM:602361
HP:0011842	Abnormal skeletal morphology	81794	ADAMTS10	OMIM:277600
HP:0011842	Abnormal skeletal morphology	81794	ADAMTS10	ORPHA:3449
HP:0011842	Abnormal skeletal morphology	26160	IFT172	ORPHA:474
HP:0011842	Abnormal skeletal morphology	26160	IFT172	OMIM:615630
HP:0011842	Abnormal skeletal morphology	153241	CEP120	ORPHA:474
HP:0011842	Abnormal skeletal morphology	51626	DYNC2LI1	ORPHA:474
HP:0011842	Abnormal skeletal morphology	51626	DYNC2LI1	OMIM:617088
HP:0011842	Abnormal skeletal morphology	79809	TTC21B	ORPHA:474
HP:0011842	Abnormal skeletal morphology	79809	TTC21B	OMIM:613819
HP:0011842	Abnormal skeletal morphology	8493	PPM1D	OMIM:617450
HP:0011842	Abnormal skeletal morphology	56006	SMG9	OMIM:619995
HP:0011842	Abnormal skeletal morphology	23126	POGZ	OMIM:616364
HP:0011842	Abnormal skeletal morphology	27125	AFF4	OMIM:616368
HP:0011842	Abnormal skeletal morphology	27125	AFF4	ORPHA:444077
HP:0011842	Abnormal skeletal morphology	1311	COMP	OMIM:177170
HP:0011842	Abnormal skeletal morphology	1311	COMP	ORPHA:750
HP:0011842	Abnormal skeletal morphology	1311	COMP	ORPHA:93308
HP:0011842	Abnormal skeletal morphology	4247	MGAT2	ORPHA:79329
HP:0011842	Abnormal skeletal morphology	8314	BAP1	OMIM:619762
HP:0011842	Abnormal skeletal morphology	54928	BPNT2	OMIM:614078
HP:0011842	Abnormal skeletal morphology	3930	LBR	OMIM:215140
HP:0011842	Abnormal skeletal morphology	3930	LBR	OMIM:618019
HP:0011842	Abnormal skeletal morphology	3930	LBR	ORPHA:1426
HP:0011842	Abnormal skeletal morphology	4488	MSX2	OMIM:604757
HP:0011842	Abnormal skeletal morphology	5727	PTCH1	ORPHA:377
HP:0011842	Abnormal skeletal morphology	5727	PTCH1	OMIM:109400
HP:0011842	Abnormal skeletal morphology	8643	PTCH2	ORPHA:377
HP:0011842	Abnormal skeletal morphology	51684	SUFU	ORPHA:377
HP:0011842	Abnormal skeletal morphology	6603	SMARCD2	OMIM:617475
HP:0011842	Abnormal skeletal morphology	23219	FBXO28	OMIM:619777
HP:0011842	Abnormal skeletal morphology	51322	WAC	ORPHA:466950
HP:0011842	Abnormal skeletal morphology	29929	ALG6	ORPHA:79320
HP:0011842	Abnormal skeletal morphology	79053	ALG8	ORPHA:79325
HP:0011842	Abnormal skeletal morphology	257	ALX3	OMIM:136760
HP:0011842	Abnormal skeletal morphology	257	ALX3	ORPHA:391474
HP:0011842	Abnormal skeletal morphology	2879	GPX4	OMIM:250220
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	OMIM:132450
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	OMIM:619248
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	ORPHA:166011
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	OMIM:271700
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	OMIM:151210
HP:0011842	Abnormal skeletal morphology	1280	COL2A1	OMIM:184250
HP:0011842	Abnormal skeletal morphology	2623	GATA1	OMIM:190685
HP:0011842	Abnormal skeletal morphology	176	ACAN	OMIM:612813
HP:0011842	Abnormal skeletal morphology	176	ACAN	ORPHA:171866
HP:0011842	Abnormal skeletal morphology	176	ACAN	ORPHA:435804
HP:0011842	Abnormal skeletal morphology	176	ACAN	OMIM:165800
HP:0011842	Abnormal skeletal morphology	51114	ZDHHC9	ORPHA:776
HP:0011842	Abnormal skeletal morphology	65109	UPF3B	ORPHA:776
HP:0011842	Abnormal skeletal morphology	79068	FTO	OMIM:612938
HP:0011842	Abnormal skeletal morphology	56975	FAM20C	OMIM:259775
HP:0011842	Abnormal skeletal morphology	55249	YY1AP1	OMIM:602531
HP:0011842	Abnormal skeletal morphology	10940	POP1	OMIM:617396
HP:0011842	Abnormal skeletal morphology	51132	RLIM	OMIM:300978
HP:0011842	Abnormal skeletal morphology	4141	MARS1	OMIM:619692
HP:0011842	Abnormal skeletal morphology	1621	DBH	OMIM:223360
HP:0011842	Abnormal skeletal morphology	54496	PRMT7	OMIM:617157
HP:0011842	Abnormal skeletal morphology	54496	PRMT7	ORPHA:464288
HP:0011842	Abnormal skeletal morphology	2316	FLNA	ORPHA:88630
HP:0011842	Abnormal skeletal morphology	2316	FLNA	OMIM:300244
HP:0011842	Abnormal skeletal morphology	5077	PAX3	OMIM:148820
HP:0011842	Abnormal skeletal morphology	10483	SEC23B	ORPHA:201
HP:0011842	Abnormal skeletal morphology	6390	SDHB	ORPHA:201
HP:0011842	Abnormal skeletal morphology	6392	SDHD	ORPHA:201
HP:0011842	Abnormal skeletal morphology	6391	SDHC	ORPHA:201
HP:0011842	Abnormal skeletal morphology	205717	USF3	ORPHA:201
HP:0011842	Abnormal skeletal morphology	5290	PIK3CA	ORPHA:201
HP:0011842	Abnormal skeletal morphology	100144748	KLLN	ORPHA:201
HP:0011842	Abnormal skeletal morphology	633	BGN	OMIM:300989
HP:0011842	Abnormal skeletal morphology	633	BGN	OMIM:300106
HP:0011842	Abnormal skeletal morphology	10297	APC2	OMIM:617169
HP:0011842	Abnormal skeletal morphology	7403	KDM6A	OMIM:300867
HP:0011842	Abnormal skeletal morphology	5144	PDE4D	ORPHA:439822
HP:0011842	Abnormal skeletal morphology	5144	PDE4D	ORPHA:950
HP:0011842	Abnormal skeletal morphology	5144	PDE4D	OMIM:614613
HP:0011842	Abnormal skeletal morphology	5144	PDE4D	ORPHA:280651
HP:0011842	Abnormal skeletal morphology	6023	RMRP	OMIM:607095
HP:0011842	Abnormal skeletal morphology	5573	PRKAR1A	OMIM:101800
HP:0011842	Abnormal skeletal morphology	5573	PRKAR1A	ORPHA:950
HP:0011842	Abnormal skeletal morphology	5573	PRKAR1A	ORPHA:280651
HP:0011842	Abnormal skeletal morphology	64374	SIL1	ORPHA:559
HP:0011842	Abnormal skeletal morphology	51763	INPP5K	ORPHA:559
HP:0011842	Abnormal skeletal morphology	9851	KIAA0753	OMIM:619479
HP:0011842	Abnormal skeletal morphology	9851	KIAA0753	ORPHA:2754
HP:0011842	Abnormal skeletal morphology	5530	PPP3CA	OMIM:618265
HP:0011842	Abnormal skeletal morphology	10283	CWC27	OMIM:250410
HP:0011842	Abnormal skeletal morphology	10283	CWC27	ORPHA:166035
HP:0011842	Abnormal skeletal morphology	6513	SLC2A1	ORPHA:168577
HP:0011842	Abnormal skeletal morphology	9060	PAPSS2	OMIM:612847
HP:0011842	Abnormal skeletal morphology	4796	TONSL	OMIM:271510
HP:0011842	Abnormal skeletal morphology	4796	TONSL	ORPHA:93357
HP:0011842	Abnormal skeletal morphology	2131	EXT1	ORPHA:502
HP:0011842	Abnormal skeletal morphology	8720	MBTPS1	OMIM:618392
HP:0011842	Abnormal skeletal morphology	2077	ERF	OMIM:617180
HP:0011842	Abnormal skeletal morphology	5130	PCYT1A	ORPHA:85167
HP:0011842	Abnormal skeletal morphology	5130	PCYT1A	OMIM:608940
HP:0011842	Abnormal skeletal morphology	23169	SLC35D1	OMIM:269250
HP:0011842	Abnormal skeletal morphology	407975	MIR17HG	ORPHA:391646
HP:0011842	Abnormal skeletal morphology	5295	PIK3R1	ORPHA:3163
HP:0011842	Abnormal skeletal morphology	51371	POMP	OMIM:618048
HP:0011842	Abnormal skeletal morphology	57152	SLURP1	OMIM:248300
HP:0011842	Abnormal skeletal morphology	51594	NBAS	OMIM:614800
HP:0011842	Abnormal skeletal morphology	4000	LMNA	ORPHA:168796
HP:0011842	Abnormal skeletal morphology	4000	LMNA	OMIM:610140
HP:0011842	Abnormal skeletal morphology	9897	WASHC5	ORPHA:7
HP:0011842	Abnormal skeletal morphology	11011	TLK2	OMIM:618050
HP:0011842	Abnormal skeletal morphology	51109	RDH11	ORPHA:436245
HP:0011842	Abnormal skeletal morphology	25886	POC1A	OMIM:614813
HP:0011842	Abnormal skeletal morphology	4053	LTBP2	OMIM:614819
HP:0011842	Abnormal skeletal morphology	4053	LTBP2	ORPHA:3449
HP:0011842	Abnormal skeletal morphology	2690	GHR	ORPHA:633
HP:0011842	Abnormal skeletal morphology	9131	AIFM1	OMIM:300232
HP:0011842	Abnormal skeletal morphology	118429	ANTXR2	ORPHA:2176
HP:0011842	Abnormal skeletal morphology	5447	POR	ORPHA:95699
HP:0011842	Abnormal skeletal morphology	22858	CILK1	OMIM:612651
HP:0011842	Abnormal skeletal morphology	26153	KIF26A	OMIM:620156
HP:0011842	Abnormal skeletal morphology	56992	KIF15	ORPHA:261323
HP:0011842	Abnormal skeletal morphology	8289	ARID1A	OMIM:614607
HP:0011842	Abnormal skeletal morphology	4054	LTBP3	ORPHA:969
HP:0011842	Abnormal skeletal morphology	4054	LTBP3	OMIM:617809
HP:0011842	Abnormal skeletal morphology	222663	SCUBE3	OMIM:619184
HP:0011842	Abnormal skeletal morphology	6885	MAP3K7	OMIM:157800
HP:0011842	Abnormal skeletal morphology	6885	MAP3K7	ORPHA:3238
HP:0011842	Abnormal skeletal morphology	51021	MRPS16	OMIM:610498
HP:0011842	Abnormal skeletal morphology	1302	COL11A2	ORPHA:2021
HP:0011842	Abnormal skeletal morphology	1302	COL11A2	ORPHA:1427
HP:0011842	Abnormal skeletal morphology	4853	NOTCH2	ORPHA:955
HP:0011842	Abnormal skeletal morphology	2254	FGF9	ORPHA:3237
HP:0011842	Abnormal skeletal morphology	55343	SLC35C1	OMIM:266265
HP:0011842	Abnormal skeletal morphology	4089	SMAD4	OMIM:139210
HP:0011842	Abnormal skeletal morphology	4089	SMAD4	ORPHA:2588
HP:0011842	Abnormal skeletal morphology	9321	TRIP11	OMIM:184260
HP:0011842	Abnormal skeletal morphology	5159	PDGFRB	OMIM:601812
HP:0011842	Abnormal skeletal morphology	5139	PDE3A	ORPHA:1276
HP:0011842	Abnormal skeletal morphology	7048	TGFBR2	OMIM:610168
HP:0011842	Abnormal skeletal morphology	8195	MKKS	ORPHA:2473
HP:0011842	Abnormal skeletal morphology	4882	NPR2	ORPHA:40
HP:0011842	Abnormal skeletal morphology	50945	TBX22	ORPHA:921
HP:0011842	Abnormal skeletal morphology	585	BBS4	OMIM:615982
HP:0011842	Abnormal skeletal morphology	129880	BBS5	OMIM:615983
HP:0011842	Abnormal skeletal morphology	27241	BBS9	OMIM:615986
HP:0011842	Abnormal skeletal morphology	196528	ARID2	OMIM:617808
HP:0011842	Abnormal skeletal morphology	55081	IFT57	OMIM:617927
HP:0011842	Abnormal skeletal morphology	6938	TCF12	ORPHA:35099
HP:0011842	Abnormal skeletal morphology	6938	TCF12	OMIM:615314
HP:0011842	Abnormal skeletal morphology	7545	ZIC1	ORPHA:35099
HP:0011842	Abnormal skeletal morphology	92482	BBIP1	OMIM:615995
HP:0011842	Abnormal skeletal morphology	54585	LZTFL1	OMIM:615994
HP:0011842	Abnormal skeletal morphology	23291	FBXW11	OMIM:618914
HP:0011842	Abnormal skeletal morphology	5053	PAH	ORPHA:2209
HP:0011842	Abnormal skeletal morphology	101929726	MYMX	ORPHA:1358
HP:0011842	Abnormal skeletal morphology	114548	NLRP3	ORPHA:1451
HP:0011842	Abnormal skeletal morphology	9419	CRIPT	OMIM:615789
HP:0011842	Abnormal skeletal morphology	9361	LONP1	ORPHA:1458
HP:0011842	Abnormal skeletal morphology	8092	ALX1	ORPHA:306542
HP:0011842	Abnormal skeletal morphology	54361	WNT4	ORPHA:247768
HP:0011842	Abnormal skeletal morphology	55617	TASP1	OMIM:618950
HP:0011842	Abnormal skeletal morphology	5744	PTHLH	OMIM:613382
HP:0011842	Abnormal skeletal morphology	113246	C12orf57	OMIM:218340
HP:0011842	Abnormal skeletal morphology	5331	PLCB3	OMIM:618961
HP:0011842	Abnormal skeletal morphology	387	RHOA	OMIM:618727
HP:0011842	Abnormal skeletal morphology	10210	TOPORS	ORPHA:2754
HP:0011842	Abnormal skeletal morphology	5147	PDE6D	ORPHA:2754
HP:0011842	Abnormal skeletal morphology	317662	FAM149B1	ORPHA:2754
HP:0011842	Abnormal skeletal morphology	23404	EXOSC2	OMIM:617763
HP:0011842	Abnormal skeletal morphology	406932	MIR140	OMIM:618618
HP:0011842	Abnormal skeletal morphology	25871	NEPRO	OMIM:618853
HP:0011842	Abnormal skeletal morphology	255758	DYNLT2B	OMIM:617405
HP:0011842	Abnormal skeletal morphology	5604	MAP2K1	OMIM:163950
HP:0011842	Abnormal skeletal morphology	50964	SOST	OMIM:269500
HP:0011842	Abnormal skeletal morphology	84529	CDIN1	OMIM:615631
HP:0011842	Abnormal skeletal morphology	7681	MKRN3	OMIM:176270
HP:0011842	Abnormal skeletal morphology	3653	IPW	OMIM:176270
HP:0011842	Abnormal skeletal morphology	791114	PWRN1	OMIM:176270
HP:0011842	Abnormal skeletal morphology	100033413	SNORD116-1	OMIM:176270
HP:0011842	Abnormal skeletal morphology	8924	HERC2	OMIM:176270
HP:0011842	Abnormal skeletal morphology	145624	PWAR1	OMIM:176270
HP:0011842	Abnormal skeletal morphology	23742	NPAP1	OMIM:176270
HP:0011842	Abnormal skeletal morphology	338433	SNORD115-1	OMIM:176270
HP:0011842	Abnormal skeletal morphology	1723	DHODH	OMIM:263750
HP:0011842	Abnormal skeletal morphology	4552	MTRR	ORPHA:2169
HP:0011842	Abnormal skeletal morphology	2192	FBLN1	ORPHA:404451
HP:0011842	Abnormal skeletal morphology	8913	CACNA1G	OMIM:618087
HP:0011842	Abnormal skeletal morphology	50814	NSDHL	OMIM:308050
HP:0011842	Abnormal skeletal morphology	23389	MED13L	ORPHA:369891
HP:0011842	Abnormal skeletal morphology	8550	MAPKAPK5	OMIM:619869
HP:0011842	Abnormal skeletal morphology	79633	FAT4	OMIM:616006
HP:0011842	Abnormal skeletal morphology	79633	FAT4	ORPHA:314679
HP:0011842	Abnormal skeletal morphology	29957	SLC25A24	OMIM:612289
HP:0011842	Abnormal skeletal morphology	4659	PPP1R12A	OMIM:618820
HP:0011842	Abnormal skeletal morphology	6305	SBF1	OMIM:615284
HP:0011842	Abnormal skeletal morphology	8642	DCHS1	ORPHA:314679
HP:0011842	Abnormal skeletal morphology	57688	ZSWIM6	OMIM:603671
HP:0011842	Abnormal skeletal morphology	79989	IFT56	OMIM:619534
HP:0011842	Abnormal skeletal morphology	775	CACNA1C	OMIM:618447
HP:0011842	Abnormal skeletal morphology	8831	SYNGAP1	ORPHA:1942
HP:0011842	Abnormal skeletal morphology	1173	AP2M1	ORPHA:1942
HP:0011842	Abnormal skeletal morphology	6323	SCN1A	ORPHA:1942
HP:0011842	Abnormal skeletal morphology	1106	CHD2	ORPHA:1942
HP:0011842	Abnormal skeletal morphology	6529	SLC6A1	ORPHA:1942
HP:0011842	Abnormal skeletal morphology	3914	LAMB3	OMIM:226700
HP:0011842	Abnormal skeletal morphology	3909	LAMA3	OMIM:226700
HP:0011842	Abnormal skeletal morphology	3918	LAMC2	OMIM:226700
HP:0011842	Abnormal skeletal morphology	54101	RIPK4	OMIM:263650
HP:0011842	Abnormal skeletal morphology	92935	MARS2	OMIM:616430
HP:0011842	Abnormal skeletal morphology	146059	CDAN1	OMIM:224120
HP:0011842	Abnormal skeletal morphology	4038	LRP4	OMIM:212780
HP:0011842	Abnormal skeletal morphology	54806	AHI1	ORPHA:475
HP:0011842	Abnormal skeletal morphology	54806	AHI1	ORPHA:220493
HP:0011842	Abnormal skeletal morphology	200894	ARL13B	ORPHA:475
HP:0011842	Abnormal skeletal morphology	9731	CEP104	ORPHA:475
HP:0011842	Abnormal skeletal morphology	23247	KATNIP	ORPHA:475
HP:0011842	Abnormal skeletal morphology	219854	TMEM218	ORPHA:475
HP:0011842	Abnormal skeletal morphology	95681	CEP41	ORPHA:475
HP:0011842	Abnormal skeletal morphology	95681	CEP41	ORPHA:220493
HP:0011842	Abnormal skeletal morphology	10464	PIBF1	ORPHA:475
HP:0011842	Abnormal skeletal morphology	23116	TOGARAM1	ORPHA:475
HP:0011842	Abnormal skeletal morphology	25776	CBY1	ORPHA:475
HP:0011842	Abnormal skeletal morphology	403	ARL3	ORPHA:475
HP:0011842	Abnormal skeletal morphology	10682	EBP	ORPHA:401973
HP:0011842	Abnormal skeletal morphology	5626	PROP1	ORPHA:226307
HP:0011842	Abnormal skeletal morphology	89884	LHX4	ORPHA:226307
HP:0011842	Abnormal skeletal morphology	8022	LHX3	ORPHA:226307
HP:0011842	Abnormal skeletal morphology	5449	POU1F1	ORPHA:226307
HP:0011842	Abnormal skeletal morphology	8820	HESX1	ORPHA:226307
HP:0011842	Abnormal skeletal morphology	51	ACOX1	ORPHA:2971
HP:0011842	Abnormal skeletal morphology	7547	ZIC3	OMIM:314390
HP:0011842	Abnormal skeletal morphology	26154	ABCA12	ORPHA:457
HP:0011842	Abnormal skeletal morphology	8241	RBM10	ORPHA:2886
HP:0011842	Abnormal skeletal morphology	51524	TMEM138	ORPHA:2318
HP:0011842	Abnormal skeletal morphology	23090	ZNF423	ORPHA:2318
HP:0011842	Abnormal skeletal morphology	5566	PRKACA	ORPHA:289
HP:0011842	Abnormal skeletal morphology	2313	FLI1	ORPHA:2308
HP:0011842	Abnormal skeletal morphology	6309	SC5D	ORPHA:46059
HP:0011842	Abnormal skeletal morphology	6309	SC5D	OMIM:607330
HP:0011842	Abnormal skeletal morphology	894	CCND2	ORPHA:83473
HP:0011842	Abnormal skeletal morphology	894	CCND2	OMIM:615938
HP:0011842	Abnormal skeletal morphology	5296	PIK3R2	ORPHA:83473
HP:0011842	Abnormal skeletal morphology	10000	AKT3	ORPHA:83473
HP:0011842	Abnormal skeletal morphology	10000	AKT3	OMIM:615937
HP:0011842	Abnormal skeletal morphology	56623	INPP5E	OMIM:213300
HP:0011842	Abnormal skeletal morphology	56623	INPP5E	ORPHA:1454
HP:0011842	Abnormal skeletal morphology	55593	OTUD5	OMIM:301056
HP:0011842	Abnormal skeletal morphology	83479	DDX59	OMIM:174300
HP:0011842	Abnormal skeletal morphology	83479	DDX59	ORPHA:2919
HP:0011842	Abnormal skeletal morphology	51057	WDPCP	OMIM:217085
HP:0011842	Abnormal skeletal morphology	51057	WDPCP	ORPHA:110
HP:0011842	Abnormal skeletal morphology	285600	KIAA0825	OMIM:618498
HP:0011842	Abnormal skeletal morphology	26005	C2CD3	OMIM:615948
HP:0011842	Abnormal skeletal morphology	26005	C2CD3	ORPHA:434179
HP:0011842	Abnormal skeletal morphology	26040	SETBP1	OMIM:269150
HP:0011842	Abnormal skeletal morphology	11020	IFT27	ORPHA:110
HP:0011842	Abnormal skeletal morphology	49855	SCAPER	ORPHA:110
HP:0011842	Abnormal skeletal morphology	4867	NPHP1	ORPHA:110
HP:0011842	Abnormal skeletal morphology	84984	CEP19	ORPHA:110
HP:0011842	Abnormal skeletal morphology	22954	TRIM32	ORPHA:110
HP:0011842	Abnormal skeletal morphology	79738	BBS10	ORPHA:110
HP:0011842	Abnormal skeletal morphology	123016	TTC8	ORPHA:110
HP:0011842	Abnormal skeletal morphology	583	BBS2	ORPHA:110
HP:0011842	Abnormal skeletal morphology	583	BBS2	OMIM:615981
HP:0011842	Abnormal skeletal morphology	55212	BBS7	ORPHA:110
HP:0011842	Abnormal skeletal morphology	166379	BBS12	ORPHA:110
HP:0011842	Abnormal skeletal morphology	166379	BBS12	OMIM:615989
HP:0011842	Abnormal skeletal morphology	10806	SDCCAG8	ORPHA:110
HP:0011842	Abnormal skeletal morphology	157657	CFAP418	ORPHA:110
HP:0011842	Abnormal skeletal morphology	157657	CFAP418	OMIM:617406
HP:0011842	Abnormal skeletal morphology	80173	IFT74	ORPHA:110
HP:0011842	Abnormal skeletal morphology	79005	SCNM1	OMIM:620107
HP:0011842	Abnormal skeletal morphology	2736	GLI2	OMIM:610829
HP:0011842	Abnormal skeletal morphology	51360	MBTPS2	OMIM:308205
HP:0011842	Abnormal skeletal morphology	51360	MBTPS2	ORPHA:85284
HP:0011842	Abnormal skeletal morphology	80210	ARMC9	OMIM:617622
HP:0011842	Abnormal skeletal morphology	23288	IQCE	OMIM:617642
HP:0011842	Abnormal skeletal morphology	137392	CIBAR1	OMIM:618219
HP:0011842	Abnormal skeletal morphology	7700	ZNF141	OMIM:615226
HP:0011842	Abnormal skeletal morphology	4088	SMAD3	ORPHA:284984
HP:0011842	Abnormal skeletal morphology	4088	SMAD3	OMIM:613795
HP:0011842	Abnormal skeletal morphology	4088	SMAD3	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	875	CBS	ORPHA:394
HP:0011842	Abnormal skeletal morphology	875	CBS	OMIM:236200
HP:0011842	Abnormal skeletal morphology	25970	SH2B1	ORPHA:261222
HP:0011842	Abnormal skeletal morphology	199857	ALG14	OMIM:619036
HP:0011842	Abnormal skeletal morphology	8925	HERC1	OMIM:617011
HP:0011842	Abnormal skeletal morphology	8925	HERC1	ORPHA:457359
HP:0011842	Abnormal skeletal morphology	1075	CTSC	OMIM:245010
HP:0011842	Abnormal skeletal morphology	1075	CTSC	ORPHA:678
HP:0011842	Abnormal skeletal morphology	5351	PLOD1	OMIM:225400
HP:0011842	Abnormal skeletal morphology	8076	MFAP5	OMIM:616166
HP:0011842	Abnormal skeletal morphology	8076	MFAP5	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	80816	ASXL3	OMIM:615485
HP:0011842	Abnormal skeletal morphology	80816	ASXL3	ORPHA:352577
HP:0011842	Abnormal skeletal morphology	72	ACTG2	ORPHA:2604
HP:0011842	Abnormal skeletal morphology	30008	EFEMP2	OMIM:614437
HP:0011842	Abnormal skeletal morphology	79693	YRDC	OMIM:619609
HP:0011842	Abnormal skeletal morphology	1146	CHRNG	OMIM:265000
HP:0011842	Abnormal skeletal morphology	284058	KANSL1	ORPHA:363958
HP:0011842	Abnormal skeletal morphology	284058	KANSL1	ORPHA:363965
HP:0011842	Abnormal skeletal morphology	1272	CNTN1	OMIM:612540
HP:0011842	Abnormal skeletal morphology	29920	PYCR2	ORPHA:481152
HP:0011842	Abnormal skeletal morphology	29920	PYCR2	OMIM:616420
HP:0011842	Abnormal skeletal morphology	1312	COMT	ORPHA:567
HP:0011842	Abnormal skeletal morphology	221037	JMJD1C	ORPHA:567
HP:0011842	Abnormal skeletal morphology	2812	GP1BB	ORPHA:567
HP:0011842	Abnormal skeletal morphology	6239	RREB1	ORPHA:567
HP:0011842	Abnormal skeletal morphology	7290	HIRA	ORPHA:567
HP:0011842	Abnormal skeletal morphology	9632	SEC24C	ORPHA:567
HP:0011842	Abnormal skeletal morphology	7353	UFD1	ORPHA:567
HP:0011842	Abnormal skeletal morphology	421	ARVCF	ORPHA:567
HP:0011842	Abnormal skeletal morphology	444	ASPH	OMIM:601552
HP:0011842	Abnormal skeletal morphology	79576	NKAP	OMIM:301039
HP:0011842	Abnormal skeletal morphology	3188	HNRNPH2	OMIM:300986
HP:0011842	Abnormal skeletal morphology	23152	CIC	OMIM:617600
HP:0011842	Abnormal skeletal morphology	649	BMP1	OMIM:614856
HP:0011842	Abnormal skeletal morphology	165	AEBP1	ORPHA:536532
HP:0011842	Abnormal skeletal morphology	11285	B4GALT7	ORPHA:75496
HP:0011842	Abnormal skeletal morphology	11285	B4GALT7	OMIM:130070
HP:0011842	Abnormal skeletal morphology	10526	IPO8	OMIM:619472
HP:0011842	Abnormal skeletal morphology	10526	IPO8	ORPHA:60030
HP:0011842	Abnormal skeletal morphology	4534	MTM1	OMIM:310400
HP:0011842	Abnormal skeletal morphology	5184	PEPD	ORPHA:742
HP:0011842	Abnormal skeletal morphology	715	C1R	OMIM:130080
HP:0011842	Abnormal skeletal morphology	60676	PAPPA2	OMIM:619489
HP:0011842	Abnormal skeletal morphology	1742	DLG4	OMIM:618793
HP:0011842	Abnormal skeletal morphology	6605	SMARCE1	OMIM:616938
HP:0011842	Abnormal skeletal morphology	11107	PRDM5	ORPHA:90354
HP:0011842	Abnormal skeletal morphology	84627	ZNF469	ORPHA:90354
HP:0011842	Abnormal skeletal morphology	4677	NARS1	OMIM:619092
HP:0011842	Abnormal skeletal morphology	6651	SON	ORPHA:500150
HP:0011842	Abnormal skeletal morphology	2193	FARSA	OMIM:619013
HP:0011842	Abnormal skeletal morphology	4087	SMAD2	OMIM:619656
HP:0011842	Abnormal skeletal morphology	4087	SMAD2	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	29893	PSMC3IP	ORPHA:243
HP:0011842	Abnormal skeletal morphology	171568	POLR3H	ORPHA:243
HP:0011842	Abnormal skeletal morphology	2516	NR5A1	ORPHA:243
HP:0011842	Abnormal skeletal morphology	125150	ZSWIM7	ORPHA:243
HP:0011842	Abnormal skeletal morphology	9210	BMP15	ORPHA:243
HP:0011842	Abnormal skeletal morphology	23514	SPIDR	ORPHA:243
HP:0011842	Abnormal skeletal morphology	2492	FSHR	ORPHA:243
HP:0011842	Abnormal skeletal morphology	56945	MRPS22	ORPHA:243
HP:0011842	Abnormal skeletal morphology	646	BNC1	ORPHA:243
HP:0011842	Abnormal skeletal morphology	4883	NPR3	OMIM:619543
HP:0011842	Abnormal skeletal morphology	7043	TGFB3	OMIM:615582
HP:0011842	Abnormal skeletal morphology	7043	TGFB3	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	7046	TGFBR1	ORPHA:60030
HP:0011842	Abnormal skeletal morphology	7046	TGFBR1	OMIM:609192
HP:0011842	Abnormal skeletal morphology	7046	TGFBR1	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	56603	CYP26B1	OMIM:614416
HP:0011842	Abnormal skeletal morphology	7042	TGFB2	OMIM:614816
HP:0011842	Abnormal skeletal morphology	7042	TGFB2	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	4629	MYH11	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	4015	LOX	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	59	ACTA2	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	5592	PRKG1	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	2301	FOXE3	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	4144	MAT2A	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	23493	HEY2	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	4638	MYLK	ORPHA:91387
HP:0011842	Abnormal skeletal morphology	1593	CYP27A1	ORPHA:909
HP:0011842	Abnormal skeletal morphology	23400	ATP13A2	ORPHA:306674
HP:0011842	Abnormal skeletal morphology	134218	DNAJC21	ORPHA:811
HP:0011842	Abnormal skeletal morphology	79631	EFL1	ORPHA:811
HP:0011842	Abnormal skeletal morphology	51119	SBDS	ORPHA:811
HP:0011842	Abnormal skeletal morphology	6729	SRP54	ORPHA:811
HP:0011842	Abnormal skeletal morphology	6926	TBX3	ORPHA:3138
HP:0011842	Abnormal skeletal morphology	64840	PORCN	OMIM:305600
HP:0011842	Abnormal skeletal morphology	64840	PORCN	ORPHA:2092
HP:0011842	Abnormal skeletal morphology	5376	PMP22	OMIM:118300
HP:0011842	Abnormal skeletal morphology	5376	PMP22	OMIM:118220
HP:0011842	Abnormal skeletal morphology	5376	PMP22	ORPHA:90658
HP:0011842	Abnormal skeletal morphology	5376	PMP22	OMIM:145900
HP:0011842	Abnormal skeletal morphology	6910	TBX5	ORPHA:392
HP:0011842	Abnormal skeletal morphology	3094	HINT1	ORPHA:324442
HP:0011842	Abnormal skeletal morphology	22880	MORC2	OMIM:616688
HP:0011842	Abnormal skeletal morphology	1001	CDH3	OMIM:225280
HP:0011842	Abnormal skeletal morphology	8626	TP63	OMIM:604292
HP:0011842	Abnormal skeletal morphology	8626	TP63	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	8626	TP63	OMIM:103285
HP:0011842	Abnormal skeletal morphology	8626	TP63	OMIM:603543
HP:0011842	Abnormal skeletal morphology	8626	TP63	OMIM:605289
HP:0011842	Abnormal skeletal morphology	8626	TP63	ORPHA:1896
HP:0011842	Abnormal skeletal morphology	4047	LSS	ORPHA:2850
HP:0011842	Abnormal skeletal morphology	197	AHSG	ORPHA:2850
HP:0011842	Abnormal skeletal morphology	3694	ITGB6	ORPHA:2850
HP:0011842	Abnormal skeletal morphology	79581	SLC52A2	OMIM:614707
HP:0011842	Abnormal skeletal morphology	411	ARSB	OMIM:253200
HP:0011842	Abnormal skeletal morphology	9150	CTDP1	OMIM:604168
HP:0011842	Abnormal skeletal morphology	54332	GDAP1	OMIM:607831
HP:0011842	Abnormal skeletal morphology	54332	GDAP1	ORPHA:101097
HP:0011842	Abnormal skeletal morphology	56704	JPH1	OMIM:607831
HP:0011842	Abnormal skeletal morphology	51776	MAP3K20	OMIM:616890
HP:0011842	Abnormal skeletal morphology	1750	DLX6	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	7979	SEM1	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	8945	BTRC	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	58513	EPS15L1	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	6468	FBXW4	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	7480	WNT10B	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	7480	WNT10B	OMIM:225300
HP:0011842	Abnormal skeletal morphology	1749	DLX5	ORPHA:2440
HP:0011842	Abnormal skeletal morphology	1749	DLX5	OMIM:183600
HP:0011842	Abnormal skeletal morphology	1749	DLX5	OMIM:220600
HP:0011842	Abnormal skeletal morphology	1717	DHCR7	ORPHA:818
HP:0011842	Abnormal skeletal morphology	81846	SBF2	OMIM:604563
HP:0011842	Abnormal skeletal morphology	79158	GNPTAB	OMIM:252500
HP:0011842	Abnormal skeletal morphology	79158	GNPTAB	OMIM:252600
HP:0011842	Abnormal skeletal morphology	3516	RBPJ	ORPHA:974
HP:0011842	Abnormal skeletal morphology	4851	NOTCH1	ORPHA:974
HP:0011842	Abnormal skeletal morphology	57514	ARHGAP31	ORPHA:974
HP:0011842	Abnormal skeletal morphology	57572	DOCK6	ORPHA:974
HP:0011842	Abnormal skeletal morphology	285203	EOGT	ORPHA:974
HP:0011842	Abnormal skeletal morphology	54567	DLL4	ORPHA:974
HP:0011842	Abnormal skeletal morphology	8888	MCM3AP	OMIM:618124
HP:0011842	Abnormal skeletal morphology	4359	MPZ	OMIM:118200
HP:0011842	Abnormal skeletal morphology	4359	MPZ	OMIM:145900
HP:0011842	Abnormal skeletal morphology	3423	IDS	OMIM:309900
HP:0011842	Abnormal skeletal morphology	3664	IRF6	ORPHA:1300
HP:0011842	Abnormal skeletal morphology	374969	SVBP	OMIM:618569
HP:0011842	Abnormal skeletal morphology	3295	HSD17B4	OMIM:261515
HP:0011842	Abnormal skeletal morphology	7476	WNT7A	OMIM:276820
HP:0011842	Abnormal skeletal morphology	1509	CTSD	OMIM:610127
HP:0011842	Abnormal skeletal morphology	64359	NXN	ORPHA:1507
HP:0011842	Abnormal skeletal morphology	4920	ROR2	ORPHA:1507
HP:0011842	Abnormal skeletal morphology	26580	BSCL2	OMIM:270685
HP:0011842	Abnormal skeletal morphology	26580	BSCL2	ORPHA:100998
HP:0011842	Abnormal skeletal morphology	4313	MMP2	OMIM:259600
HP:0011842	Abnormal skeletal morphology	2260	FGFR1	ORPHA:2117
HP:0011842	Abnormal skeletal morphology	10397	NDRG1	ORPHA:99950
HP:0011842	Abnormal skeletal morphology	4747	NEFL	OMIM:617882
HP:0011842	Abnormal skeletal morphology	1959	EGR2	OMIM:145900
HP:0011842	Abnormal skeletal morphology	57716	PRX	OMIM:145900
HP:0011842	Abnormal skeletal morphology	2189	FANCG	OMIM:614082
HP:0011842	Abnormal skeletal morphology	2189	FANCG	ORPHA:84
HP:0011842	Abnormal skeletal morphology	80207	OPA3	ORPHA:67036
HP:0011842	Abnormal skeletal morphology	9158	FIBP	ORPHA:500095
HP:0011842	Abnormal skeletal morphology	9968	MED12	ORPHA:93932
HP:0011842	Abnormal skeletal morphology	8200	GDF5	ORPHA:2639
HP:0011842	Abnormal skeletal morphology	658	BMPR1B	ORPHA:2639
HP:0011842	Abnormal skeletal morphology	672	BRCA1	ORPHA:84
HP:0011842	Abnormal skeletal morphology	10459	MAD2L2	ORPHA:84
HP:0011842	Abnormal skeletal morphology	7516	XRCC2	ORPHA:84
HP:0011842	Abnormal skeletal morphology	29089	UBE2T	ORPHA:84
HP:0011842	Abnormal skeletal morphology	675	BRCA2	ORPHA:84
HP:0011842	Abnormal skeletal morphology	55120	FANCL	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2175	FANCA	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2187	FANCB	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2176	FANCC	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2178	FANCE	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2188	FANCF	ORPHA:84
HP:0011842	Abnormal skeletal morphology	5888	RAD51	ORPHA:84
HP:0011842	Abnormal skeletal morphology	5889	RAD51C	ORPHA:84
HP:0011842	Abnormal skeletal morphology	55159	RFWD3	ORPHA:84
HP:0011842	Abnormal skeletal morphology	83990	BRIP1	ORPHA:84
HP:0011842	Abnormal skeletal morphology	57697	FANCM	ORPHA:84
HP:0011842	Abnormal skeletal morphology	79728	PALB2	ORPHA:84
HP:0011842	Abnormal skeletal morphology	84464	SLX4	ORPHA:84
HP:0011842	Abnormal skeletal morphology	2072	ERCC4	ORPHA:84
HP:0011842	Abnormal skeletal morphology	55215	FANCI	ORPHA:84
HP:0011842	Abnormal skeletal morphology	64093	SMOC1	ORPHA:1106
HP:0011842	Abnormal skeletal morphology	2261	FGFR3	OMIM:620192
HP:0011842	Abnormal skeletal morphology	2261	FGFR3	ORPHA:2363
HP:0011842	Abnormal skeletal morphology	23111	SPART	ORPHA:101000
HP:0011842	Abnormal skeletal morphology	25942	SIN3A	ORPHA:94065
HP:0011842	Abnormal skeletal morphology	1193	CLIC2	ORPHA:324410
HP:0011842	Abnormal skeletal morphology	860	RUNX2	ORPHA:1452
HP:0011842	Abnormal skeletal morphology	2255	FGF10	ORPHA:2363
HP:0011842	Abnormal skeletal morphology	6469	SHH	ORPHA:93321
HP:0011842	Abnormal skeletal morphology	57167	SALL4	ORPHA:233
HP:0011842	Abnormal skeletal morphology	57167	SALL4	ORPHA:959
HP:0011842	Abnormal skeletal morphology	57167	SALL4	ORPHA:2307
HP:0011842	Abnormal skeletal morphology	9935	MAFB	ORPHA:233
HP:0011842	Abnormal skeletal morphology	1123	CHN1	ORPHA:233
HP:0011842	Abnormal skeletal morphology	2137	EXTL3	ORPHA:508533
HP:0011842	Abnormal skeletal morphology	22827	PUF60	ORPHA:508498
HP:0011842	Abnormal skeletal morphology	65250	CPLANE1	OMIM:277170
HP:0011842	Abnormal skeletal morphology	6608	SMO	OMIM:601707
HP:0011842	Abnormal skeletal morphology	6608	SMO	ORPHA:1553
HP:0011842	Abnormal skeletal morphology	4750	NEK1	OMIM:263520
HP:0011842	Abnormal skeletal morphology	2737	GLI3	OMIM:175700
HP:0011842	Abnormal skeletal morphology	2737	GLI3	ORPHA:380
HP:0011842	Abnormal skeletal morphology	2737	GLI3	OMIM:174200
HP:0011842	Abnormal skeletal morphology	64327	LMBR1	ORPHA:2378
HP:0011842	Abnormal skeletal morphology	64327	LMBR1	OMIM:174500
HP:0011842	Abnormal skeletal morphology	55027	HEATR3	OMIM:620072
HP:0011842	Abnormal skeletal morphology	6299	SALL1	OMIM:107480
HP:0011842	Abnormal skeletal morphology	6299	SALL1	ORPHA:857
HP:0011842	Abnormal skeletal morphology	55112	DYNC2I1	ORPHA:93271
HP:0011842	Abnormal skeletal morphology	57560	IFT80	ORPHA:93271
HP:0011842	Abnormal skeletal morphology	57539	WDR35	ORPHA:93271
HP:0011842	Abnormal skeletal morphology	79659	DYNC2H1	ORPHA:93271
HP:0011842	Abnormal skeletal morphology	89891	DYNC2I2	ORPHA:93271
HP:0011842	Abnormal skeletal morphology	374879	ZNF699	OMIM:619488
HP:0011842	Abnormal skeletal morphology	374654	KIF7	OMIM:200990
HP:0011842	Abnormal skeletal morphology	8318	CDC45	OMIM:617063
HP:0011842	Abnormal skeletal morphology	51339	DACT1	ORPHA:857
HP:0011842	Abnormal skeletal morphology	2177	FANCD2	OMIM:227646
HP:0011842	Abnormal skeletal morphology	727857	BHLHA9	ORPHA:3329
HP:0011842	Abnormal skeletal morphology	23133	PHF8	ORPHA:85287
HP:0011842	Abnormal skeletal morphology	8481	OFD1	ORPHA:2750
HP:0011842	Abnormal skeletal morphology	219844	HYLS1	OMIM:236680
HP:0011842	Abnormal skeletal morphology	26123	TCTN3	ORPHA:2753
HP:0011842	Abnormal skeletal morphology	26123	TCTN3	ORPHA:564
HP:0011842	Abnormal skeletal morphology	2697	GJA1	ORPHA:2710
HP:0011842	Abnormal skeletal morphology	3239	HOXD13	ORPHA:887
HP:0011842	Abnormal skeletal morphology	7020	TFAP2A	OMIM:113620
HP:0011842	Abnormal skeletal morphology	7020	TFAP2A	ORPHA:1297
HP:0011842	Abnormal skeletal morphology	84314	TMEM107	ORPHA:564
HP:0011842	Abnormal skeletal morphology	79867	TCTN2	ORPHA:564
HP:0011842	Abnormal skeletal morphology	80776	B9D2	ORPHA:564
HP:0011842	Abnormal skeletal morphology	79600	TCTN1	ORPHA:564
HP:0011842	Abnormal skeletal morphology	57096	RPGRIP1	ORPHA:564
HP:0011842	Abnormal skeletal morphology	79848	CSPP1	ORPHA:564
HP:0011842	Abnormal skeletal morphology	80184	CEP290	ORPHA:564
HP:0011842	Abnormal skeletal morphology	51259	TMEM216	ORPHA:564
HP:0011842	Abnormal skeletal morphology	57545	CC2D2A	ORPHA:564
HP:0011842	Abnormal skeletal morphology	79583	TMEM231	ORPHA:564
HP:0011842	Abnormal skeletal morphology	91147	TMEM67	ORPHA:564
HP:0011842	Abnormal skeletal morphology	79770	TXNDC15	ORPHA:564
HP:0011842	Abnormal skeletal morphology	27077	B9D1	ORPHA:564
HP:0011842	Abnormal skeletal morphology	23322	RPGRIP1L	ORPHA:564
HP:0011842	Abnormal skeletal morphology	54903	MKS1	ORPHA:564
HP:0011842	Abnormal skeletal morphology	65062	TMEM237	ORPHA:564
HP:0011842	Abnormal skeletal morphology	10815	CPLX1	ORPHA:280
HP:0011842	Abnormal skeletal morphology	10815	CPLX1	OMIM:194190
HP:0011842	Abnormal skeletal morphology	54872	PIGG	ORPHA:280
HP:0011842	Abnormal skeletal morphology	7469	NELFA	ORPHA:280
HP:0011842	Abnormal skeletal morphology	1487	CTBP1	ORPHA:280
HP:0011842	Abnormal skeletal morphology	1487	CTBP1	OMIM:194190
HP:0011842	Abnormal skeletal morphology	3954	LETM1	ORPHA:280
HP:0011842	Abnormal skeletal morphology	3954	LETM1	OMIM:194190
HP:0011842	Abnormal skeletal morphology	7468	NSD2	ORPHA:280
HP:0011842	Abnormal skeletal morphology	7468	NSD2	OMIM:194190
HP:0011842	Abnormal skeletal morphology	2735	GLI1	OMIM:174400
HP:0011842	Abnormal skeletal morphology	53834	FGFRL1	OMIM:194190
HP:0011842	Abnormal skeletal morphology	9343	EFTUD2	OMIM:610536
HP:0011842	Abnormal skeletal morphology	9343	EFTUD2	ORPHA:79113
HP:0011842	Abnormal skeletal morphology	2263	FGFR2	OMIM:101200
HP:0011842	Abnormal skeletal morphology	157570	ESCO2	OMIM:268300
HP:0011842	Abnormal skeletal morphology	9401	RECQL4	ORPHA:1225
HP:0011842	Abnormal skeletal morphology	25836	NIPBL	OMIM:122470
HP:0011842	Abnormal skeletal morphology	6154	RPL26	OMIM:614900
HP:0011842	Abnormal skeletal morphology	10262	SF3B4	ORPHA:1788
HP:0011842	Abnormal skeletal morphology	1802	DPH2	OMIM:620062
HP:0011842	Abnormal skeletal morphology	91949	COG7	OMIM:608779
HP:0011842	Abnormal skeletal morphology	91949	COG7	ORPHA:79333
HP:0011842	Abnormal skeletal morphology	27238	GPKOW	ORPHA:2570
HP:0011842	Abnormal skeletal morphology	23141	ANKLE2	OMIM:616681
HP:0011842	Abnormal skeletal morphology	29895	MYL11	OMIM:619110
HP:0011842	Abnormal skeletal morphology	5393	EXOSC9	OMIM:618065
HP:0011842	Abnormal skeletal morphology	1861	TOR1A	OMIM:618947
HP:0011842	Abnormal skeletal morphology	55627	SMPD4	OMIM:618622
HP:0011842	Abnormal skeletal morphology	6804	STX1A	ORPHA:904
HP:0011842	Abnormal skeletal morphology	7461	CLIP2	ORPHA:904
HP:0011842	Abnormal skeletal morphology	84277	DNAJC30	ORPHA:904
HP:0011842	Abnormal skeletal morphology	8468	FKBP6	ORPHA:904
HP:0011842	Abnormal skeletal morphology	5982	RFC2	ORPHA:904
HP:0011842	Abnormal skeletal morphology	2969	GTF2I	ORPHA:904
HP:0011842	Abnormal skeletal morphology	3984	LIMK1	ORPHA:904
HP:0011842	Abnormal skeletal morphology	9569	GTF2IRD1	ORPHA:904
HP:0011842	Abnormal skeletal morphology	155382	VPS37D	ORPHA:904
HP:0011842	Abnormal skeletal morphology	155368	METTL27	ORPHA:904
HP:0011842	Abnormal skeletal morphology	114049	BUD23	ORPHA:904
HP:0011842	Abnormal skeletal morphology	7458	EIF4H	ORPHA:904
HP:0011842	Abnormal skeletal morphology	84163	GTF2IRD2	ORPHA:904
HP:0011842	Abnormal skeletal morphology	9275	BCL7B	ORPHA:904
HP:0011842	Abnormal skeletal morphology	26608	TBL2	ORPHA:904
HP:0011842	Abnormal skeletal morphology	653361	NCF1	ORPHA:904
HP:0011842	Abnormal skeletal morphology	135886	TMEM270	ORPHA:904
HP:0011842	Abnormal skeletal morphology	51085	MLXIPL	ORPHA:904
HP:0011842	Abnormal skeletal morphology	9031	BAZ1B	ORPHA:904
HP:0011842	Abnormal skeletal morphology	2006	ELN	ORPHA:904
HP:0011842	Abnormal skeletal morphology	2006	ELN	ORPHA:90348
HP:0011842	Abnormal skeletal morphology	5832	ALDH18A1	OMIM:616603
HP:0011842	Abnormal skeletal morphology	5832	ALDH18A1	OMIM:219150
HP:0011842	Abnormal skeletal morphology	5832	ALDH18A1	ORPHA:90348
HP:0011842	Abnormal skeletal morphology	347734	SLC35B2	OMIM:620269
HP:0011842	Abnormal skeletal morphology	23345	SYNE1	ORPHA:319332
HP:0011842	Abnormal skeletal morphology	23345	SYNE1	OMIM:618484
HP:0011842	Abnormal skeletal morphology	84992	PIGY	OMIM:616809
HP:0011842	Abnormal skeletal morphology	1291	COL6A1	ORPHA:75840
HP:0011842	Abnormal skeletal morphology	1292	COL6A2	ORPHA:75840
HP:0011842	Abnormal skeletal morphology	1293	COL6A3	ORPHA:75840
HP:0011842	Abnormal skeletal morphology	9839	ZEB2	ORPHA:261537
HP:0011842	Abnormal skeletal morphology	9839	ZEB2	ORPHA:261552
HP:0011842	Abnormal skeletal morphology	215	ABCD1	ORPHA:388
HP:0011842	Abnormal skeletal morphology	5979	RET	ORPHA:388
HP:0011842	Abnormal skeletal morphology	2668	GDNF	ORPHA:388
HP:0011842	Abnormal skeletal morphology	6720	SREBF1	ORPHA:388
HP:0011842	Abnormal skeletal morphology	1908	EDN3	ORPHA:388
HP:0011842	Abnormal skeletal morphology	223117	SEMA3D	ORPHA:388
HP:0011842	Abnormal skeletal morphology	538	ATP7A	ORPHA:388
HP:0011842	Abnormal skeletal morphology	1910	EDNRB	ORPHA:388
HP:0011842	Abnormal skeletal morphology	10512	SEMA3C	ORPHA:388
HP:0011842	Abnormal skeletal morphology	2064	ERBB2	ORPHA:388
HP:0011842	Abnormal skeletal morphology	2065	ERBB3	ORPHA:388
HP:0011842	Abnormal skeletal morphology	4902	NRTN	ORPHA:388
HP:0011842	Abnormal skeletal morphology	10479	SLC9A6	OMIM:300243
HP:0011842	Abnormal skeletal morphology	10479	SLC9A6	ORPHA:85278
HP:0011842	Abnormal skeletal morphology	91754	NEK9	OMIM:617022
HP:0011842	Abnormal skeletal morphology	5649	RELN	ORPHA:89844
HP:0011842	Abnormal skeletal morphology	54820	NDE1	ORPHA:89844
HP:0011842	Abnormal skeletal morphology	6472	SHMT2	OMIM:619121
HP:0011842	Abnormal skeletal morphology	58	ACTA1	ORPHA:171430
HP:0011842	Abnormal skeletal morphology	4703	NEB	ORPHA:171430
HP:0011842	Abnormal skeletal morphology	4703	NEB	OMIM:619334
HP:0011842	Abnormal skeletal morphology	131377	KLHL40	ORPHA:171430
HP:0011842	Abnormal skeletal morphology	10324	KLHL41	ORPHA:171430
HP:0011842	Abnormal skeletal morphology	56203	LMOD3	ORPHA:171430
HP:0011842	Abnormal skeletal morphology	26227	PHGDH	OMIM:601815
HP:0011842	Abnormal skeletal morphology	26227	PHGDH	ORPHA:79351
HP:0011842	Abnormal skeletal morphology	84162	BLTP1	OMIM:617822
HP:0011842	Abnormal skeletal morphology	202018	TAPT1	OMIM:616897
HP:0011842	Abnormal skeletal morphology	2201	FBN2	OMIM:121050
HP:0011842	Abnormal skeletal morphology	91869	RFT1	OMIM:612015
HP:0011842	Abnormal skeletal morphology	2033	EP300	ORPHA:353284
HP:0011842	Abnormal skeletal morphology	4621	MYH3	OMIM:618436
HP:0011842	Abnormal skeletal morphology	4621	MYH3	OMIM:193700
HP:0011842	Abnormal skeletal morphology	4621	MYH3	ORPHA:1147
HP:0011842	Abnormal skeletal morphology	4621	MYH3	ORPHA:1146
HP:0011842	Abnormal skeletal morphology	3897	L1CAM	ORPHA:306617
HP:0011842	Abnormal skeletal morphology	3897	L1CAM	OMIM:303350
HP:0011842	Abnormal skeletal morphology	3897	L1CAM	OMIM:307000
HP:0011842	Abnormal skeletal morphology	3897	L1CAM	ORPHA:2182
HP:0011842	Abnormal skeletal morphology	388015	RTL1	ORPHA:96334
HP:0011842	Abnormal skeletal morphology	8788	DLK1	ORPHA:96334
HP:0011842	Abnormal skeletal morphology	55384	MEG3	ORPHA:96334
HP:0011842	Abnormal skeletal morphology	2067	ERCC1	OMIM:610758
HP:0011842	Abnormal skeletal morphology	9179	AP4M1	OMIM:612936
HP:0011842	Abnormal skeletal morphology	7169	TPM2	OMIM:108120
HP:0011842	Abnormal skeletal morphology	7169	TPM2	ORPHA:1147
HP:0011842	Abnormal skeletal morphology	7169	TPM2	ORPHA:1146
HP:0011842	Abnormal skeletal morphology	126792	B3GALT6	ORPHA:536467
HP:0011842	Abnormal skeletal morphology	50515	CHST11	OMIM:618167
HP:0011842	Abnormal skeletal morphology	79868	ALG13	ORPHA:324422
HP:0011842	Abnormal skeletal morphology	259232	NALCN	OMIM:616266
HP:0011842	Abnormal skeletal morphology	259232	NALCN	ORPHA:1147
HP:0011842	Abnormal skeletal morphology	259232	NALCN	ORPHA:1146
HP:0011842	Abnormal skeletal morphology	23483	TGDS	OMIM:616145
HP:0011842	Abnormal skeletal morphology	729920	CRPPA	OMIM:614643
HP:0011842	Abnormal skeletal morphology	7136	TNNI2	ORPHA:1147
HP:0011842	Abnormal skeletal morphology	7136	TNNI2	ORPHA:1146
HP:0011842	Abnormal skeletal morphology	10273	STUB1	ORPHA:412057
HP:0011842	Abnormal skeletal morphology	1387	CREBBP	ORPHA:353277
HP:0011842	Abnormal skeletal morphology	4604	MYBPC1	ORPHA:1146
HP:0011842	Abnormal skeletal morphology	10516	FBLN5	ORPHA:90348
HP:0011842	Abnormal skeletal morphology	81857	MED25	ORPHA:464738
HP:0011842	Abnormal skeletal morphology	57211	ADGRG6	OMIM:616503
HP:0011842	Abnormal skeletal morphology	9939	RBM8A	ORPHA:3320
HP:0011842	Abnormal skeletal morphology	9939	RBM8A	OMIM:274000
HP:0011842	Abnormal skeletal morphology	23299	BICD2	OMIM:618291
HP:0011842	Abnormal skeletal morphology	10195	ALG3	OMIM:601110
HP:0011842	Abnormal skeletal morphology	10943	MSL3	OMIM:301032
HP:0011842	Abnormal skeletal morphology	3977	LIFR	OMIM:601559
HP:0011842	Abnormal skeletal morphology	9427	ECEL1	OMIM:615065
HP:0011842	Abnormal skeletal morphology	6999	TDO2	OMIM:600627
HP:0011842	Abnormal skeletal morphology	84896	ATAD1	OMIM:618011
HP:0011842	Abnormal skeletal morphology	2036	EPB41L1	OMIM:614257
HP:0011842	Abnormal skeletal morphology	51002	TPRKB	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	84942	WDR73	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	55644	OSGEP	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	57122	NUP107	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	10785	WDR4	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	55746	NUP133	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	8270	LAGE3	ORPHA:2065
HP:0011842	Abnormal skeletal morphology	8367	H4C5	OMIM:619950
HP:0011842	Abnormal skeletal morphology	9853	RUSC2	OMIM:617773
HP:0011842	Abnormal skeletal morphology	23019	CNOT1	OMIM:619033
HP:0011842	Abnormal skeletal morphology	26128	KIFBP	OMIM:609460
HP:0011842	Abnormal skeletal morphology	2972	BRF1	OMIM:616202
HP:0011842	Abnormal skeletal morphology	2972	BRF1	ORPHA:444072
HP:0011842	Abnormal skeletal morphology	56916	SMARCAD1	OMIM:129200
HP:0011842	Abnormal skeletal morphology	56916	SMARCAD1	OMIM:181600
HP:0011842	Abnormal skeletal morphology	9578	CDC42BPB	OMIM:619841
HP:0011842	Abnormal skeletal morphology	3020	H3-3A	OMIM:619720
HP:0011842	Abnormal skeletal morphology	170302	ARX	OMIM:300004
HP:0011842	Abnormal skeletal morphology	3021	H3-3B	OMIM:619721
HP:0011842	Abnormal skeletal morphology	10300	KATNB1	OMIM:616212
HP:0011842	Abnormal skeletal morphology	2624	GATA2	OMIM:614038
HP:0011842	Abnormal skeletal morphology	55904	KMT2E	OMIM:618512
HP:0011842	Abnormal skeletal morphology	10978	CLP1	OMIM:615803
HP:0011842	Abnormal skeletal morphology	55650	PIGV	OMIM:239300
HP:0011842	Abnormal skeletal morphology	6335	SCN9A	ORPHA:970
HP:0011842	Abnormal skeletal morphology	65125	WNK1	ORPHA:970
HP:0011842	Abnormal skeletal morphology	54463	RETREG1	ORPHA:970
HP:0011842	Abnormal skeletal morphology	547	KIF1A	ORPHA:970
HP:0011842	Abnormal skeletal morphology	547	KIF1A	ORPHA:2836
HP:0011842	Abnormal skeletal morphology	6595	SMARCA2	OMIM:619293
HP:0011842	Abnormal skeletal morphology	80204	FBXO11	OMIM:618089
HP:0011842	Abnormal skeletal morphology	113189	CHST14	ORPHA:2953
HP:0011842	Abnormal skeletal morphology	29940	DSE	ORPHA:2953
HP:0011842	Abnormal skeletal morphology	1889	ECE1	OMIM:613870
HP:0011842	Abnormal skeletal morphology	9326	ZNHIT3	ORPHA:2836
HP:0011842	Abnormal skeletal morphology	9326	ZNHIT3	OMIM:260565
HP:0011842	Abnormal skeletal morphology	2770	GNAI1	OMIM:619854
HP:0011842	Abnormal skeletal morphology	83550	GPR101	ORPHA:963
HP:0011842	Abnormal skeletal morphology	9049	AIP	ORPHA:963
HP:0011842	Abnormal skeletal morphology	157680	VPS13B	OMIM:216550
HP:0011842	Abnormal skeletal morphology	157680	VPS13B	ORPHA:193
HP:0011842	Abnormal skeletal morphology	2626	GATA4	ORPHA:251071
HP:0011842	Abnormal skeletal morphology	84823	LMNB2	OMIM:619180
HP:0011842	Abnormal skeletal morphology	9896	FIG4	ORPHA:3472
HP:0011842	Abnormal skeletal morphology	9896	FIG4	OMIM:216340
HP:0011842	Abnormal skeletal morphology	55697	VAC14	ORPHA:3472
HP:0011842	Abnormal skeletal morphology	1656	DDX6	OMIM:618653
HP:0011842	Abnormal skeletal morphology	4297	KMT2A	ORPHA:319182
HP:0011842	Abnormal skeletal morphology	4297	KMT2A	OMIM:605130
HP:0011842	Abnormal skeletal morphology	57178	ZMIZ1	OMIM:618659
HP:0011842	Abnormal skeletal morphology	6792	CDKL5	OMIM:300672
HP:0011842	Abnormal skeletal morphology	7025	NR2F1	ORPHA:401777
HP:0011842	Abnormal skeletal morphology	7025	NR2F1	OMIM:615722
HP:0011842	Abnormal skeletal morphology	253738	EBF3	OMIM:617330
HP:0011842	Abnormal skeletal morphology	55699	IARS2	OMIM:616007
HP:0011842	Abnormal skeletal morphology	8239	USP9X	ORPHA:480880
HP:0011842	Abnormal skeletal morphology	8239	USP9X	OMIM:300968
HP:0011842	Abnormal skeletal morphology	285175	UNC80	OMIM:616801
HP:0011842	Abnormal skeletal morphology	79753	SNIP1	OMIM:614501
HP:0011842	Abnormal skeletal morphology	6134	RPL10	ORPHA:459070
HP:0011842	Abnormal skeletal morphology	6134	RPL10	OMIM:300998
HP:0011842	Abnormal skeletal morphology	6134	RPL10	ORPHA:435938
HP:0011842	Abnormal skeletal morphology	1859	DYRK1A	ORPHA:464311
HP:0011842	Abnormal skeletal morphology	1859	DYRK1A	ORPHA:268261
HP:0011842	Abnormal skeletal morphology	1303	COL12A1	ORPHA:536516
HP:0011842	Abnormal skeletal morphology	51611	DPH5	OMIM:620070
HP:0011842	Abnormal skeletal morphology	79813	EHMT1	ORPHA:261652
HP:0011842	Abnormal skeletal morphology	58508	KMT2C	ORPHA:261652
HP:0011842	Abnormal skeletal morphology	4094	MAF	ORPHA:1272
HP:0011842	Abnormal skeletal morphology	4094	MAF	OMIM:601088
HP:0011842	Abnormal skeletal morphology	7750	ZMYM2	OMIM:619522
HP:0011842	Abnormal skeletal morphology	5594	MAPK1	OMIM:619087
HP:0011842	Abnormal skeletal morphology	4849	CNOT3	OMIM:618672
HP:0011842	Abnormal skeletal morphology	6942	TCF20	OMIM:618430
HP:0011842	Abnormal skeletal morphology	81887	LAS1L	ORPHA:3459
HP:0011842	Abnormal skeletal morphology	81887	LAS1L	OMIM:309585
HP:0011842	Abnormal skeletal morphology	55869	HDAC8	ORPHA:3459
HP:0011842	Abnormal skeletal morphology	7140	TNNT3	OMIM:618435
HP:0011842	Abnormal skeletal morphology	6925	TCF4	OMIM:610954
HP:0011842	Abnormal skeletal morphology	6925	TCF4	ORPHA:2896
HP:0011842	Abnormal skeletal morphology	7030	TFE3	OMIM:301066
HP:0011842	Abnormal skeletal morphology	546	ATRX	OMIM:309580
HP:0011842	Abnormal skeletal morphology	546	ATRX	OMIM:301040
HP:0011842	Abnormal skeletal morphology	84295	PHF6	ORPHA:127
HP:0011842	Abnormal skeletal morphology	84295	PHF6	OMIM:301900
HP:0011842	Abnormal skeletal morphology	91252	SLC39A13	ORPHA:157965
HP:0011842	Abnormal skeletal morphology	91252	SLC39A13	OMIM:612350
HP:0011842	Abnormal skeletal morphology	171023	ASXL1	OMIM:605039
HP:0011842	Abnormal skeletal morphology	55023	PHIP	ORPHA:589905
HP:0011842	Abnormal skeletal morphology	55023	PHIP	OMIM:617991
HP:0011842	Abnormal skeletal morphology	22907	DHX30	OMIM:617804
HP:0011842	Abnormal skeletal morphology	9230	RAB11B	OMIM:617807
HP:0011842	Abnormal skeletal morphology	5277	PIGA	OMIM:301072
HP:0011842	Abnormal skeletal morphology	389827	MYMK	OMIM:254940
HP:0011842	Abnormal skeletal morphology	10075	HUWE1	OMIM:309590
HP:0011842	Abnormal skeletal morphology	9488	PIGB	OMIM:618580
HP:0011842	Abnormal skeletal morphology	8243	SMC1A	OMIM:301044
HP:0011842	Abnormal skeletal morphology	23013	SPEN	OMIM:619312
HP:0011842	Abnormal skeletal morphology	56896	DPYSL5	OMIM:619435
HP:0011842	Abnormal skeletal morphology	9698	PUM1	OMIM:617931
HP:0011842	Abnormal skeletal morphology	23394	ADNP	OMIM:615873
HP:0011842	Abnormal skeletal morphology	23028	KDM1A	OMIM:616728
HP:0011842	Abnormal skeletal morphology	23028	KDM1A	ORPHA:477993
HP:0011842	Abnormal skeletal morphology	5575	PRKAR1B	OMIM:619680
HP:0011842	Abnormal skeletal morphology	91179	SCARF2	OMIM:600920
HP:0011842	Abnormal skeletal morphology	6492	SIM1	ORPHA:171829
HP:0011842	Abnormal skeletal morphology	2782	GNB1	OMIM:616973
HP:0011842	Abnormal skeletal morphology	4953	ODC1	ORPHA:544488
HP:0011842	Abnormal skeletal morphology	998	CDC42	OMIM:616737
HP:0011842	Abnormal skeletal morphology	998	CDC42	ORPHA:487796
HP:0011842	Abnormal skeletal morphology	3097	HIVEP2	OMIM:616977
HP:0011842	Abnormal skeletal morphology	10982	MAPRE2	OMIM:616734
HP:0011842	Abnormal skeletal morphology	4131	MAP1B	OMIM:618918
HP:0011842	Abnormal skeletal morphology	56915	EXOSC5	OMIM:619576
HP:0011842	Abnormal skeletal morphology	10588	MTHFS	OMIM:618367
HP:0011842	Abnormal skeletal morphology	63035	BCORL1	OMIM:301029
HP:0011842	Abnormal skeletal morphology	10265	IRX5	OMIM:611174
HP:0011842	Abnormal skeletal morphology	1108	CHD4	OMIM:617159
HP:0011842	Abnormal skeletal morphology	91137	SLC25A46	OMIM:616505
HP:0011842	Abnormal skeletal morphology	8604	SLC25A12	OMIM:612949
HP:0011842	Abnormal skeletal morphology	7703	PCGF2	OMIM:618371
HP:0011842	Abnormal skeletal morphology	83696	TRAPPC9	ORPHA:352530
HP:0011842	Abnormal skeletal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011842	Abnormal skeletal morphology	54551	MAGEL2	OMIM:615547
HP:0011842	Abnormal skeletal morphology	2707	GJB3	ORPHA:317
HP:0011842	Abnormal skeletal morphology	2531	KDSR	ORPHA:317
HP:0011842	Abnormal skeletal morphology	127534	GJB4	ORPHA:317
HP:0011842	Abnormal skeletal morphology	9244	CRLF1	OMIM:272430
HP:0011842	Abnormal skeletal morphology	8812	CCNK	OMIM:618147
HP:0011842	Abnormal skeletal morphology	112858	TP53RK	OMIM:617730
HP:0011842	Abnormal skeletal morphology	7204	TRIO	OMIM:618825
HP:0011842	Abnormal skeletal morphology	7204	TRIO	OMIM:617061
HP:0011842	Abnormal skeletal morphology	7204	TRIO	ORPHA:476126
HP:0011842	Abnormal skeletal morphology	9894	TELO2	ORPHA:488642
HP:0011842	Abnormal skeletal morphology	80036	TRPM3	OMIM:620224
HP:0011842	Abnormal skeletal morphology	8936	WASF1	OMIM:618707
HP:0011842	Abnormal skeletal morphology	8405	SPOP	OMIM:618829
HP:0011842	Abnormal skeletal morphology	23630	KCNE5	ORPHA:86818
HP:0011842	Abnormal skeletal morphology	2182	ACSL4	ORPHA:86818
HP:0011842	Abnormal skeletal morphology	9949	AMMECR1	ORPHA:86818
HP:0011842	Abnormal skeletal morphology	11198	SUPT16H	OMIM:619480
HP:0011842	Abnormal skeletal morphology	23556	PIGN	ORPHA:280633
HP:0011842	Abnormal skeletal morphology	23067	SETD1B	OMIM:619000
HP:0011842	Abnormal skeletal morphology	23233	EXOC6B	OMIM:618395
HP:0011842	Abnormal skeletal morphology	5075	PAX1	OMIM:615560
HP:0011842	Abnormal skeletal morphology	55704	CCDC88A	OMIM:617507
HP:0011842	Abnormal skeletal morphology	1376	CPT2	OMIM:608836
HP:0011842	Abnormal skeletal morphology	8242	KDM5C	ORPHA:85279
HP:0011842	Abnormal skeletal morphology	1315	COPB1	OMIM:619255
HP:0011842	Abnormal skeletal morphology	51317	PHF21A	OMIM:618725
HP:0011842	Abnormal skeletal morphology	1968	EIF2S3	ORPHA:85282
HP:0011842	Abnormal skeletal morphology	5557	PRIM1	OMIM:620005
HP:0011842	Abnormal skeletal morphology	1795	DOCK3	OMIM:618292
HP:0011842	Abnormal skeletal morphology	3636	INPPL1	ORPHA:2746
HP:0011842	Abnormal skeletal morphology	4654	MYOD1	OMIM:618975
HP:0011842	Abnormal skeletal morphology	11342	RNF13	ORPHA:544503
HP:0011842	Abnormal skeletal morphology	9990	SLC12A6	OMIM:218000
HP:0011842	Abnormal skeletal morphology	6197	RPS6KA3	OMIM:303600
HP:0011842	Abnormal skeletal morphology	9791	PTDSS1	OMIM:151050
HP:0011842	Abnormal skeletal morphology	2245	FGD1	OMIM:305400
HP:0011842	Abnormal skeletal morphology	9759	HDAC4	OMIM:619797
HP:0011842	Abnormal skeletal morphology	3756	KCNH1	OMIM:135500
HP:0011842	Abnormal skeletal morphology	57479	PRR12	OMIM:619539
HP:0011842	Abnormal skeletal morphology	6611	SMS	OMIM:309583
HP:0011842	Abnormal skeletal morphology	673	BRAF	OMIM:115150
HP:0011842	Abnormal skeletal morphology	91461	PKDCC	OMIM:618821
HP:0011842	Abnormal skeletal morphology	92344	GORAB	OMIM:231070
HP:0011842	Abnormal skeletal morphology	54499	TMCO1	OMIM:213980
HP:0011842	Abnormal skeletal morphology	387733	IFITM5	OMIM:610967
HP:0011842	Abnormal skeletal morphology	51633	OTUD6B	ORPHA:505237
HP:0011842	Abnormal skeletal morphology	23114	NFASC	OMIM:618356
HP:0011842	Abnormal skeletal morphology	1289	COL5A1	OMIM:130000
HP:0011842	Abnormal skeletal morphology	1278	COL1A2	OMIM:617821
HP:0011842	Abnormal skeletal morphology	427	ASAH1	OMIM:228000
HP:0011842	Abnormal skeletal morphology	9373	PLAA	ORPHA:521426
HP:0011842	Abnormal skeletal morphology	2783	GNB2	OMIM:619503
HP:0011842	Abnormal skeletal morphology	3265	HRAS	OMIM:218040
HP:0011842	Abnormal skeletal morphology	2200	FBN1	OMIM:616914
HP:0011842	Abnormal skeletal morphology	121340	SP7	OMIM:613849
HP:0011842	Abnormal skeletal morphology	3782	KCNN3	OMIM:618658
HP:0011842	Abnormal skeletal morphology	5063	PAK3	OMIM:300558
HP:0011842	Abnormal skeletal morphology	6228	RPS23	OMIM:617412
HP:0011842	Abnormal skeletal morphology	27086	FOXP1	ORPHA:391372
HP:0011842	Abnormal skeletal morphology	23065	EMC1	ORPHA:480898
HP:0011842	Abnormal skeletal morphology	23065	EMC1	OMIM:616875
HP:0011842	Abnormal skeletal morphology	1105	CHD1	OMIM:617682
HP:0011842	Abnormal skeletal morphology	1822	ATN1	OMIM:618494
HP:0011842	Abnormal skeletal morphology	3720	JARID2	OMIM:620098
HP:0011842	Abnormal skeletal morphology	94	ACVRL1	OMIM:600376
HP:0011842	Abnormal skeletal morphology	6340	SCNN1G	ORPHA:60033
HP:0011842	Abnormal skeletal morphology	1080	CFTR	ORPHA:60033
HP:0011842	Abnormal skeletal morphology	6337	SCNN1A	ORPHA:60033
HP:0011842	Abnormal skeletal morphology	6338	SCNN1B	ORPHA:60033
HP:0011842	Abnormal skeletal morphology	2022	ENG	OMIM:187300
HP:0011842	Abnormal skeletal morphology	653509	SFTPA1	OMIM:619611
HP:0011842	Abnormal skeletal morphology	6578	SLCO2A1	OMIM:614441
HP:0011842	Abnormal skeletal morphology	738	VPS51	OMIM:618606
HP:0011842	Abnormal skeletal morphology	56244	BTNL2	OMIM:612387
HP:0011842	Abnormal skeletal morphology	6794	STK11	OMIM:175200
HP:0011842	Abnormal skeletal morphology	3858	KRT10	OMIM:609165
HP:0011842	Abnormal skeletal morphology	25981	DNAH1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	115948	ODAD3	ORPHA:244
HP:0011842	Abnormal skeletal morphology	54768	HYDIN	ORPHA:244
HP:0011842	Abnormal skeletal morphology	352909	DNAAF3	ORPHA:244
HP:0011842	Abnormal skeletal morphology	27148	STK36	ORPHA:244
HP:0011842	Abnormal skeletal morphology	51314	NME8	ORPHA:244
HP:0011842	Abnormal skeletal morphology	92749	DRC1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	54970	TTC12	ORPHA:244
HP:0011842	Abnormal skeletal morphology	152110	NEK10	ORPHA:244
HP:0011842	Abnormal skeletal morphology	2302	FOXJ1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	221421	RSPH9	ORPHA:244
HP:0011842	Abnormal skeletal morphology	85478	CCDC65	ORPHA:244
HP:0011842	Abnormal skeletal morphology	55036	CCDC40	ORPHA:244
HP:0011842	Abnormal skeletal morphology	51364	ZMYND10	ORPHA:244
HP:0011842	Abnormal skeletal morphology	64446	DNAI2	ORPHA:244
HP:0011842	Abnormal skeletal morphology	6674	SPAG1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	83544	DNAL1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	89765	RSPH1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	83538	ODAD4	ORPHA:244
HP:0011842	Abnormal skeletal morphology	200373	CFAP221	ORPHA:244
HP:0011842	Abnormal skeletal morphology	374407	DNAJB13	ORPHA:244
HP:0011842	Abnormal skeletal morphology	55172	DNAAF2	ORPHA:244
HP:0011842	Abnormal skeletal morphology	161582	DNAAF4	ORPHA:244
HP:0011842	Abnormal skeletal morphology	2622	GAS8	ORPHA:244
HP:0011842	Abnormal skeletal morphology	23639	DNAAF11	ORPHA:244
HP:0011842	Abnormal skeletal morphology	27019	DNAI1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	345895	RSPH4A	ORPHA:244
HP:0011842	Abnormal skeletal morphology	54919	DNAAF5	ORPHA:244
HP:0011842	Abnormal skeletal morphology	6103	RPGR	ORPHA:244
HP:0011842	Abnormal skeletal morphology	388389	CCDC103	ORPHA:244
HP:0011842	Abnormal skeletal morphology	93233	ODAD1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	55130	ODAD2	ORPHA:244
HP:0011842	Abnormal skeletal morphology	1767	DNAH5	ORPHA:244
HP:0011842	Abnormal skeletal morphology	83861	RSPH3	ORPHA:244
HP:0011842	Abnormal skeletal morphology	345643	MCIDAS	ORPHA:244
HP:0011842	Abnormal skeletal morphology	56683	CFAP298	ORPHA:244
HP:0011842	Abnormal skeletal morphology	79925	SPEF2	ORPHA:244
HP:0011842	Abnormal skeletal morphology	10309	CCNO	ORPHA:244
HP:0011842	Abnormal skeletal morphology	115399	LRRC56	ORPHA:244
HP:0011842	Abnormal skeletal morphology	139212	DNAAF6	ORPHA:244
HP:0011842	Abnormal skeletal morphology	123872	DNAAF1	ORPHA:244
HP:0011842	Abnormal skeletal morphology	85016	CFAP300	ORPHA:244
HP:0011842	Abnormal skeletal morphology	339829	CCDC39	ORPHA:244
HP:0011842	Abnormal skeletal morphology	8701	DNAH11	ORPHA:244
HP:0011842	Abnormal skeletal morphology	1770	DNAH9	ORPHA:244
HP:0011842	Abnormal skeletal morphology	246176	GAS2L2	ORPHA:244
HP:0011842	Abnormal skeletal morphology	1604	CD55	OMIM:226300
HP:0011842	Abnormal skeletal morphology	10892	MALT1	OMIM:615468
HP:0011842	Abnormal skeletal morphology	7317	UBA1	ORPHA:1145
HP:0011842	Abnormal skeletal morphology	3868	KRT16	ORPHA:2199
HP:0011842	Abnormal skeletal morphology	3857	KRT9	ORPHA:2199
HP:0011842	Abnormal skeletal morphology	3848	KRT1	ORPHA:2199
HP:0011842	Abnormal skeletal morphology	3861	KRT14	ORPHA:69087
HP:0011842	Abnormal skeletal morphology	10216	PRG4	ORPHA:2848
HP:0011842	Abnormal skeletal morphology	4323	MMP14	ORPHA:371428
HP:0011842	Abnormal skeletal morphology	4323	MMP14	OMIM:277950
HP:0011842	Abnormal skeletal morphology	3955	LFNG	OMIM:609813
HP:0011842	Abnormal skeletal morphology	10525	HYOU1	OMIM:233600
HP:0011842	Abnormal skeletal morphology	10381	TUBB3	OMIM:600638
HP:0011842	Abnormal skeletal morphology	57863	CADM3	OMIM:619519
HP:0011842	Abnormal skeletal morphology	55681	SCYL2	ORPHA:1143
HP:0011842	Abnormal skeletal morphology	84570	COL25A1	ORPHA:1143
HP:0011842	Abnormal skeletal morphology	57222	ERGIC1	ORPHA:1143
HP:0011842	Abnormal skeletal morphology	80208	SPG11	OMIM:616668
HP:0011842	Abnormal skeletal morphology	825	CAPN3	ORPHA:267
HP:0011842	Abnormal skeletal morphology	8449	DHX16	OMIM:618733
HP:0011842	Abnormal skeletal morphology	203859	ANO5	ORPHA:206549
HP:0011842	Abnormal skeletal morphology	4081	MAB21L1	OMIM:618479
HP:0011842	Abnormal skeletal morphology	84892	POMGNT2	ORPHA:899
HP:0011842	Abnormal skeletal morphology	148789	B3GALNT2	ORPHA:899
HP:0011842	Abnormal skeletal morphology	1282	COL4A1	ORPHA:899
HP:0011842	Abnormal skeletal morphology	10329	RXYLT1	ORPHA:899
HP:0011842	Abnormal skeletal morphology	1605	DAG1	ORPHA:899
HP:0011842	Abnormal skeletal morphology	55624	POMGNT1	ORPHA:899
HP:0011842	Abnormal skeletal morphology	6601	SMARCC2	ORPHA:1465
HP:0011842	Abnormal skeletal morphology	6602	SMARCD1	ORPHA:1465
HP:0011842	Abnormal skeletal morphology	5340	PLG	ORPHA:722
HP:0011842	Abnormal skeletal morphology	5340	PLG	OMIM:217090
HP:0011842	Abnormal skeletal morphology	23258	DENND5A	OMIM:617281
HP:0011842	Abnormal skeletal morphology	84188	FAR1	ORPHA:438178
HP:0011842	Abnormal skeletal morphology	84188	FAR1	OMIM:616154
HP:0011842	Abnormal skeletal morphology	2683	B4GALT1	OMIM:607091
HP:0011842	Abnormal skeletal morphology	2683	B4GALT1	ORPHA:79332
HP:0011842	Abnormal skeletal morphology	7846	TUBA1A	ORPHA:994
HP:0011842	Abnormal skeletal morphology	55640	FLVCR2	OMIM:225790
HP:0011842	Abnormal skeletal morphology	10984	KCNQ1OT1	OMIM:130650
HP:0011842	Abnormal skeletal morphology	3784	KCNQ1	OMIM:130650
HP:0011842	Abnormal skeletal morphology	26235	FBXL4	OMIM:615471
HP:0011842	Abnormal skeletal morphology	104	ADARB1	OMIM:618862
HP:0011842	Abnormal skeletal morphology	6418	SET	OMIM:618106
HP:0011842	Abnormal skeletal morphology	5515	PPP2CA	OMIM:618354
HP:0011842	Abnormal skeletal morphology	113179	ADAT3	ORPHA:363528
HP:0011842	Abnormal skeletal morphology	283489	CHAMP1	OMIM:616579
HP:0011842	Abnormal skeletal morphology	64221	ROBO3	OMIM:607313
HP:0011842	Abnormal skeletal morphology	26999	CYFIP2	OMIM:618008
HP:0011842	Abnormal skeletal morphology	2009	EML1	OMIM:600348
HP:0011842	Abnormal skeletal morphology	4330	MN1	OMIM:618774
HP:0011842	Abnormal skeletal morphology	54914	FOCAD	OMIM:619991
HP:0011842	Abnormal skeletal morphology	8567	MADD	OMIM:619005
HP:0011842	Abnormal skeletal morphology	7358	UGDH	OMIM:618792
HP:0011842	Abnormal skeletal morphology	57502	NLGN4X	OMIM:300495
HP:0011842	Abnormal skeletal morphology	1807	DPYS	OMIM:222748
HP:0011842	Abnormal skeletal morphology	58497	PRUNE1	OMIM:617481
HP:0011842	Abnormal skeletal morphology	58497	PRUNE1	ORPHA:544469
HP:0011842	Abnormal skeletal morphology	57647	DHX37	OMIM:618731
HP:0011842	Abnormal skeletal morphology	8621	CDK13	OMIM:617360
HP:0011842	Abnormal skeletal morphology	284361	EMC10	OMIM:619264
HP:0011842	Abnormal skeletal morphology	80781	COL18A1	ORPHA:1571
HP:0011842	Abnormal skeletal morphology	5062	PAK2	ORPHA:1571
HP:0011842	Abnormal skeletal morphology	64116	SLC39A8	OMIM:616721
HP:0011842	Abnormal skeletal morphology	64116	SLC39A8	ORPHA:468699
HP:0011842	Abnormal skeletal morphology	26115	TANC2	OMIM:618906
HP:0011842	Abnormal skeletal morphology	27245	AHDC1	ORPHA:412069
HP:0011842	Abnormal skeletal morphology	10157	AASS	ORPHA:2203
HP:0011842	Abnormal skeletal morphology	9739	SETD1A	OMIM:619056
HP:0011842	Abnormal skeletal morphology	4091	SMAD6	OMIM:617439
HP:0011842	Abnormal skeletal morphology	26038	CHD5	OMIM:619873
HP:0011842	Abnormal skeletal morphology	10584	COLEC10	ORPHA:293843
HP:0011842	Abnormal skeletal morphology	4281	MID1	ORPHA:2745
HP:0011842	Abnormal skeletal morphology	3106	HLA-B	ORPHA:397
HP:0011842	Abnormal skeletal morphology	3106	HLA-B	ORPHA:29207
HP:0011842	Abnormal skeletal morphology	3106	HLA-B	ORPHA:3287
HP:0011842	Abnormal skeletal morphology	3106	HLA-B	ORPHA:117
HP:0011842	Abnormal skeletal morphology	8974	P4HA2	ORPHA:397
HP:0011842	Abnormal skeletal morphology	355	FAS	ORPHA:3261
HP:0011842	Abnormal skeletal morphology	355	FAS	ORPHA:117
HP:0011842	Abnormal skeletal morphology	356	FASLG	ORPHA:3261
HP:0011842	Abnormal skeletal morphology	5580	PRKCD	ORPHA:3261
HP:0011842	Abnormal skeletal morphology	5580	PRKCD	OMIM:615559
HP:0011842	Abnormal skeletal morphology	843	CASP10	ORPHA:3261
HP:0011842	Abnormal skeletal morphology	10125	RASGRP1	ORPHA:3261
HP:0011842	Abnormal skeletal morphology	4598	MVK	OMIM:260920
HP:0011842	Abnormal skeletal morphology	4598	MVK	ORPHA:343
HP:0011842	Abnormal skeletal morphology	987	LRBA	OMIM:614700
HP:0011842	Abnormal skeletal morphology	6696	SPP1	ORPHA:93552
HP:0011842	Abnormal skeletal morphology	3654	IRAK1	ORPHA:93552
HP:0011842	Abnormal skeletal morphology	50943	FOXP3	OMIM:304790
HP:0011842	Abnormal skeletal morphology	56983	POGLUT1	ORPHA:79145
HP:0011842	Abnormal skeletal morphology	23509	POFUT1	ORPHA:79145
HP:0011842	Abnormal skeletal morphology	55851	PSENEN	ORPHA:79145
HP:0011842	Abnormal skeletal morphology	5896	RAG1	OMIM:601457
HP:0011842	Abnormal skeletal morphology	5897	RAG2	OMIM:601457
HP:0011842	Abnormal skeletal morphology	7018	TF	ORPHA:1195
HP:0011842	Abnormal skeletal morphology	105371045	PERCC1	ORPHA:92050
HP:0011842	Abnormal skeletal morphology	1493	CTLA4	OMIM:616100
HP:0011842	Abnormal skeletal morphology	1493	CTLA4	OMIM:152700
HP:0011842	Abnormal skeletal morphology	3107	HLA-C	OMIM:177900
HP:0011842	Abnormal skeletal morphology	23230	VPS13A	ORPHA:2388
HP:0011842	Abnormal skeletal morphology	9051	PSTPIP1	OMIM:604416
HP:0011842	Abnormal skeletal morphology	9051	PSTPIP1	ORPHA:69126
HP:0011842	Abnormal skeletal morphology	30011	SH3KBP1	OMIM:300310
HP:0011842	Abnormal skeletal morphology	79784	MYH14	ORPHA:397744
HP:0011842	Abnormal skeletal morphology	3236	HOXD10	OMIM:192950
HP:0011842	Abnormal skeletal morphology	540	ATP7B	ORPHA:905
HP:0011842	Abnormal skeletal morphology	7454	WAS	ORPHA:906
HP:0011842	Abnormal skeletal morphology	7456	WIPF1	ORPHA:906
HP:0011842	Abnormal skeletal morphology	7036	TFR2	OMIM:604250
HP:0011842	Abnormal skeletal morphology	1314	COPA	OMIM:616414
HP:0011842	Abnormal skeletal morphology	91662	NLRP12	OMIM:611762
HP:0011842	Abnormal skeletal morphology	3662	IRF4	ORPHA:3452
HP:0011842	Abnormal skeletal morphology	695	BTK	ORPHA:47
HP:0011842	Abnormal skeletal morphology	3593	IL12B	ORPHA:3287
HP:0011842	Abnormal skeletal morphology	6945	MLX	ORPHA:3287
HP:0011842	Abnormal skeletal morphology	6850	SYK	OMIM:619381
HP:0011842	Abnormal skeletal morphology	2000	ELF4	OMIM:301074
HP:0011842	Abnormal skeletal morphology	205327	C2orf69	OMIM:619423
HP:0011842	Abnormal skeletal morphology	2212	FCGR2A	OMIM:152700
HP:0011842	Abnormal skeletal morphology	2213	FCGR2B	OMIM:152700
HP:0011842	Abnormal skeletal morphology	11277	TREX1	OMIM:152700
HP:0011842	Abnormal skeletal morphology	11277	TREX1	ORPHA:51
HP:0011842	Abnormal skeletal morphology	1773	DNASE1	OMIM:152700
HP:0011842	Abnormal skeletal morphology	10535	RNASEH2A	ORPHA:51
HP:0011842	Abnormal skeletal morphology	84153	RNASEH2C	ORPHA:51
HP:0011842	Abnormal skeletal morphology	79621	RNASEH2B	ORPHA:51
HP:0011842	Abnormal skeletal morphology	103	ADAR	ORPHA:51
HP:0011842	Abnormal skeletal morphology	100147744	RNU7-1	ORPHA:51
HP:0011842	Abnormal skeletal morphology	134353	LSM11	ORPHA:51
HP:0011842	Abnormal skeletal morphology	165918	RNF168	ORPHA:420741
HP:0011842	Abnormal skeletal morphology	6929	TCF3	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	973	CD79A	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	974	CD79B	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	3543	IGLL1	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	3507	IGHM	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	29760	BLNK	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	56262	LRRC8A	ORPHA:33110
HP:0011842	Abnormal skeletal morphology	149233	IL23R	ORPHA:117
HP:0011842	Abnormal skeletal morphology	1230	CCR1	ORPHA:117
HP:0011842	Abnormal skeletal morphology	3592	IL12A	ORPHA:117
HP:0011842	Abnormal skeletal morphology	101928376	IL12A-AS1	ORPHA:117
HP:0011842	Abnormal skeletal morphology	7099	TLR4	ORPHA:117
HP:0011842	Abnormal skeletal morphology	720	C4A	ORPHA:117
HP:0011842	Abnormal skeletal morphology	337867	UBAC2	ORPHA:117
HP:0011842	Abnormal skeletal morphology	51752	ERAP1	ORPHA:117
HP:0011842	Abnormal skeletal morphology	8302	KLRC4	ORPHA:117
HP:0011842	Abnormal skeletal morphology	2643	GCH1	ORPHA:98808
HP:0011842	Abnormal skeletal morphology	4929	NR4A2	ORPHA:98808
HP:0011842	Abnormal skeletal morphology	3615	IMPDH2	ORPHA:98808
HP:0011842	Abnormal skeletal morphology	3514	IGKC	ORPHA:183675
HP:0011842	Abnormal skeletal morphology	3501	IGHG2	ORPHA:183675
HP:0011842	Abnormal skeletal morphology	3763	KCNJ6	ORPHA:435628
HP:0011842	Abnormal skeletal morphology	3763	KCNJ6	OMIM:614098
HP:0011842	Abnormal skeletal morphology	55823	VPS11	OMIM:616683
HP:0011842	Abnormal skeletal morphology	2895	GRID2	OMIM:616204
HP:0011842	Abnormal skeletal morphology	1161	ERCC8	ORPHA:90324
HP:0011842	Abnormal skeletal morphology	1161	ERCC8	ORPHA:90322
HP:0011842	Abnormal skeletal morphology	2074	ERCC6	ORPHA:90324
HP:0011842	Abnormal skeletal morphology	2074	ERCC6	ORPHA:90322
HP:0011842	Abnormal skeletal morphology	2074	ERCC6	OMIM:214150
HP:0011842	Abnormal skeletal morphology	4072	EPCAM	ORPHA:144
HP:0011842	Abnormal skeletal morphology	4292	MLH1	ORPHA:144
HP:0011842	Abnormal skeletal morphology	5395	PMS2	ORPHA:144
HP:0011842	Abnormal skeletal morphology	27030	MLH3	ORPHA:144
HP:0011842	Abnormal skeletal morphology	22909	FAN1	ORPHA:144
HP:0011842	Abnormal skeletal morphology	2956	MSH6	ORPHA:144
HP:0011842	Abnormal skeletal morphology	5378	PMS1	ORPHA:144
HP:0011842	Abnormal skeletal morphology	4436	MSH2	ORPHA:144
HP:0011842	Abnormal skeletal morphology	4312	MMP1	ORPHA:79408
HP:0011842	Abnormal skeletal morphology	4312	MMP1	OMIM:226600
HP:0011842	Abnormal skeletal morphology	8443	GNPAT	OMIM:222765
HP:0011842	Abnormal skeletal morphology	54968	TMEM70	ORPHA:1194
HP:0011842	Abnormal skeletal morphology	6536	SLC6A9	OMIM:617301
HP:0011842	Abnormal skeletal morphology	1785	DNM2	OMIM:615368
HP:0011842	Abnormal skeletal morphology	1785	DNM2	OMIM:160150
HP:0011842	Abnormal skeletal morphology	64218	SEMA4A	ORPHA:440437
HP:0011842	Abnormal skeletal morphology	25914	RTTN	OMIM:614833
HP:0011842	Abnormal skeletal morphology	84197	POMK	OMIM:615249
HP:0011842	Abnormal skeletal morphology	128486	FITM2	OMIM:618635
HP:0011842	Abnormal skeletal morphology	3908	LAMA2	ORPHA:258
HP:0011842	Abnormal skeletal morphology	3908	LAMA2	OMIM:607855
HP:0011842	Abnormal skeletal morphology	29925	GMPPB	ORPHA:353327
HP:0011842	Abnormal skeletal morphology	2673	GFPT1	ORPHA:353327
HP:0011842	Abnormal skeletal morphology	85365	ALG2	ORPHA:353327
HP:0011842	Abnormal skeletal morphology	23250	ATP11A	OMIM:619851
HP:0011842	Abnormal skeletal morphology	55157	DARS2	ORPHA:137898
HP:0011842	Abnormal skeletal morphology	55157	DARS2	OMIM:611105
HP:0011842	Abnormal skeletal morphology	8560	DEGS1	OMIM:618404
HP:0011842	Abnormal skeletal morphology	6445	SGCG	OMIM:253700
HP:0011842	Abnormal skeletal morphology	56984	PSMG2	OMIM:619183
HP:0011842	Abnormal skeletal morphology	22872	SEC31A	OMIM:618651
HP:0011842	Abnormal skeletal morphology	1641	DCX	ORPHA:2148
HP:0011842	Abnormal skeletal morphology	4632	MYL1	OMIM:618414
HP:0011842	Abnormal skeletal morphology	2752	GLUL	OMIM:610015
HP:0011842	Abnormal skeletal morphology	149371	EXOC8	OMIM:619076
HP:0011842	Abnormal skeletal morphology	64419	MTMR14	OMIM:160150
HP:0011842	Abnormal skeletal morphology	773	CACNA1A	OMIM:617106
HP:0011842	Abnormal skeletal morphology	6506	SLC1A2	OMIM:617105
HP:0011842	Abnormal skeletal morphology	487	ATP2A1	OMIM:601003
HP:0011842	Abnormal skeletal morphology	22906	TRAK1	OMIM:618201
HP:0011842	Abnormal skeletal morphology	55275	VPS53	OMIM:615851
HP:0011842	Abnormal skeletal morphology	667	DST	OMIM:614653
HP:0011842	Abnormal skeletal morphology	3329	HSPD1	OMIM:612233
HP:0011842	Abnormal skeletal morphology	55770	EXOC2	OMIM:619306
HP:0011842	Abnormal skeletal morphology	8905	AP1S2	OMIM:304340
HP:0011842	Abnormal skeletal morphology	9927	MFN2	ORPHA:99947
HP:0011842	Abnormal skeletal morphology	9927	MFN2	OMIM:609260
HP:0011842	Abnormal skeletal morphology	4001	LMNB1	ORPHA:99027
HP:0011842	Abnormal skeletal morphology	56052	ALG1	OMIM:608540
HP:0011842	Abnormal skeletal morphology	7051	TGM1	OMIM:242300
HP:0011842	Abnormal skeletal morphology	84706	GPT2	OMIM:616281
HP:0011842	Abnormal skeletal morphology	9526	MPDU1	OMIM:609180
HP:0011842	Abnormal skeletal morphology	203547	VMA21	OMIM:310440
HP:0011842	Abnormal skeletal morphology	6442	SGCA	OMIM:608099
HP:0011842	Abnormal skeletal morphology	10049	DNAJB6	OMIM:603511
HP:0011842	Abnormal skeletal morphology	8882	ZPR1	OMIM:619321
HP:0011842	Abnormal skeletal morphology	10229	COQ7	OMIM:616733
HP:0011842	Abnormal skeletal morphology	112939	NACC1	ORPHA:500545
HP:0011842	Abnormal skeletal morphology	29078	NDUFAF4	OMIM:618237
HP:0011842	Abnormal skeletal morphology	5010	CLDN11	OMIM:619328
HP:0011842	Abnormal skeletal morphology	51010	EXOSC3	OMIM:614678
HP:0011842	Abnormal skeletal morphology	23729	SHPK	ORPHA:440713
HP:0011842	Abnormal skeletal morphology	6331	SCN5A	ORPHA:1344
HP:0011842	Abnormal skeletal morphology	4878	NPPA	ORPHA:1344
HP:0011842	Abnormal skeletal morphology	64856	VWA1	OMIM:619216
HP:0011842	Abnormal skeletal morphology	7965	AIMP2	OMIM:618006
HP:0011842	Abnormal skeletal morphology	51008	ASCC1	OMIM:616867
HP:0011842	Abnormal skeletal morphology	5160	PDHA1	ORPHA:79243
HP:0011842	Abnormal skeletal morphology	91647	ATPAF2	OMIM:604273
HP:0011842	Abnormal skeletal morphology	8802	SUCLG1	ORPHA:17
HP:0011842	Abnormal skeletal morphology	128637	TBC1D20	OMIM:615663
HP:0011842	Abnormal skeletal morphology	8425	LTBP4	ORPHA:98896
HP:0011842	Abnormal skeletal morphology	35	ACADS	OMIM:201470
HP:0011842	Abnormal skeletal morphology	2517	FUCA1	OMIM:230000
HP:0011842	Abnormal skeletal morphology	162514	TRPV3	OMIM:614594
HP:0011842	Abnormal skeletal morphology	5538	PPT1	OMIM:256730
HP:0011842	Abnormal skeletal morphology	5354	PLP1	OMIM:312920
HP:0011842	Abnormal skeletal morphology	84081	NSRP1	OMIM:620001
HP:0011842	Abnormal skeletal morphology	6389	SDHA	OMIM:252011
HP:0011842	Abnormal skeletal morphology	2801	GOLGA2	OMIM:620240
HP:0011842	Abnormal skeletal morphology	224	ALDH3A2	OMIM:270200
HP:0011842	Abnormal skeletal morphology	84842	HPDL	OMIM:619026
HP:0011842	Abnormal skeletal morphology	22978	NT5C2	OMIM:613162
HP:0011842	Abnormal skeletal morphology	221692	PHACTR1	OMIM:618298
HP:0011842	Abnormal skeletal morphology	6786	STIM1	OMIM:160565
HP:0011842	Abnormal skeletal morphology	2639	GCDH	ORPHA:25
HP:0011842	Abnormal skeletal morphology	30061	SLC40A1	ORPHA:139491
HP:0011842	Abnormal skeletal morphology	716	C1S	OMIM:617174
HP:0011842	Abnormal skeletal morphology	1776	DNASE1L3	ORPHA:36412
HP:0011842	Abnormal skeletal morphology	6748	SSR4	ORPHA:370927
HP:0011842	Abnormal skeletal morphology	6748	SSR4	OMIM:300934
HP:0011842	Abnormal skeletal morphology	9509	ADAMTS2	ORPHA:1901
HP:0011842	Abnormal skeletal morphology	2743	GLRB	ORPHA:3197
HP:0011842	Abnormal skeletal morphology	2741	GLRA1	ORPHA:3197
HP:0011842	Abnormal skeletal morphology	10243	GPHN	ORPHA:3197
HP:0011842	Abnormal skeletal morphology	9152	SLC6A5	ORPHA:3197
HP:0011842	Abnormal skeletal morphology	2138	EYA1	OMIM:113650
HP:0011842	Abnormal skeletal morphology	6495	SIX1	OMIM:113650
HP:0011842	Abnormal skeletal morphology	523	ATP6V1A	ORPHA:357074
HP:0011842	Abnormal skeletal morphology	529	ATP6V1E1	ORPHA:357074
HP:0011842	Abnormal skeletal morphology	5528	PPP2R5D	ORPHA:457279
HP:0011842	Abnormal skeletal morphology	5528	PPP2R5D	OMIM:616355
HP:0011842	Abnormal skeletal morphology	50628	GEMIN4	OMIM:617913
HP:0011842	Abnormal skeletal morphology	7067	THRA	OMIM:614450
HP:0011842	Abnormal skeletal morphology	23529	CLCF1	OMIM:610313
HP:0011842	Abnormal skeletal morphology	60684	TRAPPC11	OMIM:615356
HP:0011842	Abnormal skeletal morphology	7372	UMPS	ORPHA:30
HP:0011842	Abnormal skeletal morphology	478	ATP1A3	OMIM:619606
HP:0011842	Abnormal skeletal morphology	4692	NDN	ORPHA:177904
HP:0011842	Abnormal skeletal morphology	4692	NDN	ORPHA:177901
HP:0011842	Abnormal skeletal morphology	4692	NDN	ORPHA:98754
HP:0011842	Abnormal skeletal morphology	4948	OCA2	ORPHA:177904
HP:0011842	Abnormal skeletal morphology	4948	OCA2	ORPHA:177901
HP:0011842	Abnormal skeletal morphology	4948	OCA2	ORPHA:98754
HP:0011842	Abnormal skeletal morphology	153642	ARSK	OMIM:619698
HP:0011842	Abnormal skeletal morphology	26276	VPS33B	OMIM:208085
HP:0011842	Abnormal skeletal morphology	57511	COG6	OMIM:614576
HP:0011842	Abnormal skeletal morphology	63894	VIPAS39	OMIM:613404
HP:0011842	Abnormal skeletal morphology	200424	TET3	OMIM:618798
HP:0011842	Abnormal skeletal morphology	2799	GNS	OMIM:252940
HP:0011842	Abnormal skeletal morphology	10667	FARS2	ORPHA:466722
HP:0011842	Abnormal skeletal morphology	51780	KDM3B	OMIM:618846
HP:0011842	Abnormal skeletal morphology	64432	MRPS25	OMIM:619025
HP:0011842	Abnormal skeletal morphology	79628	SH3TC2	ORPHA:99949
HP:0011842	Abnormal skeletal morphology	55753	OGDHL	OMIM:619701
HP:0011842	Abnormal skeletal morphology	90268	OTULIN	OMIM:617099
HP:0011842	Abnormal skeletal morphology	7157	TP53	ORPHA:668
HP:0011842	Abnormal skeletal morphology	11200	CHEK2	ORPHA:668
HP:0011842	Abnormal skeletal morphology	2243	FGA	ORPHA:98880
HP:0011842	Abnormal skeletal morphology	2244	FGB	ORPHA:98880
HP:0011842	Abnormal skeletal morphology	2266	FGG	ORPHA:98880
HP:0011842	Abnormal skeletal morphology	3557	IL1RN	OMIM:612852
HP:0011842	Abnormal skeletal morphology	443	ASPA	OMIM:271900
HP:0011842	Abnormal skeletal morphology	367	AR	OMIM:312300
HP:0011842	Abnormal skeletal morphology	65260	COA7	OMIM:618387
HP:0011842	Abnormal skeletal morphology	50717	DCAF8	OMIM:610100
HP:0011842	Abnormal skeletal morphology	7879	RAB7A	OMIM:600882
HP:0011842	Abnormal skeletal morphology	5375	PMP2	OMIM:618279
HP:0011842	Abnormal skeletal morphology	23095	KIF1B	OMIM:118210
HP:0011842	Abnormal skeletal morphology	400916	CHCHD10	OMIM:615048
HP:0011842	Abnormal skeletal morphology	90678	LRSAM1	OMIM:614436
HP:0011842	Abnormal skeletal morphology	11261	CHP1	OMIM:618438
HP:0011842	Abnormal skeletal morphology	3710	ITPR3	OMIM:620111
HP:0011842	Abnormal skeletal morphology	4358	MPV17	OMIM:618400
HP:0011842	Abnormal skeletal morphology	59345	GNB4	OMIM:615185
HP:0011842	Abnormal skeletal morphology	8729	GBF1	OMIM:606483
HP:0011842	Abnormal skeletal morphology	4556	MT-TE	ORPHA:2596
HP:0011842	Abnormal skeletal morphology	26090	ABHD12	OMIM:612674
HP:0011842	Abnormal skeletal morphology	6049	RNF6	ORPHA:99977
HP:0011842	Abnormal skeletal morphology	9940	DLEC1	ORPHA:99977
HP:0011842	Abnormal skeletal morphology	51726	DNAJB11	OMIM:618061
HP:0011842	Abnormal skeletal morphology	3251	HPRT1	ORPHA:510
HP:0011842	Abnormal skeletal morphology	3251	HPRT1	ORPHA:79233
HP:0011842	Abnormal skeletal morphology	7369	UMOD	OMIM:162000
HP:0011842	Abnormal skeletal morphology	5631	PRPS1	OMIM:300661
HP:0011842	Abnormal skeletal morphology	5631	PRPS1	ORPHA:411543
HP:0011842	Abnormal skeletal morphology	6928	HNF1B	OMIM:137920
HP:0011842	Abnormal skeletal morphology	29927	SEC61A1	OMIM:617056
HP:0011842	Abnormal skeletal morphology	2538	G6PC1	OMIM:232200
HP:0011842	Abnormal skeletal morphology	5213	PFKM	OMIM:232800
HP:0011842	Abnormal skeletal morphology	4582	MUC1	OMIM:174000
HP:0011842	Abnormal skeletal morphology	1188	CLCNKB	ORPHA:358
HP:0011842	Abnormal skeletal morphology	6559	SLC12A3	ORPHA:358
HP:0011842	Abnormal skeletal morphology	2542	SLC37A4	OMIM:232220
HP:0011842	Abnormal skeletal morphology	2542	SLC37A4	OMIM:232240
HP:0011842	Abnormal skeletal morphology	2542	SLC37A4	ORPHA:79259
HP:0011842	Abnormal skeletal morphology	2038	EPB42	ORPHA:822
HP:0011842	Abnormal skeletal morphology	6521	SLC4A1	ORPHA:822
HP:0011842	Abnormal skeletal morphology	6710	SPTB	ORPHA:822
HP:0011842	Abnormal skeletal morphology	6708	SPTA1	ORPHA:822
HP:0011842	Abnormal skeletal morphology	286	ANK1	ORPHA:822
HP:0011842	Abnormal skeletal morphology	4040	LRP6	OMIM:610947
HP:0011842	Abnormal skeletal morphology	7360	UGP2	OMIM:618744
HP:0011842	Abnormal skeletal morphology	2035	EPB41	ORPHA:288
HP:0011842	Abnormal skeletal morphology	2995	GYPC	ORPHA:288
HP:0011842	Abnormal skeletal morphology	5813	PURA	ORPHA:438216
HP:0011842	Abnormal skeletal morphology	92609	TIMM50	OMIM:617698
HP:0011842	Abnormal skeletal morphology	7707	ZNF148	OMIM:617260
HP:0011842	Abnormal skeletal morphology	116442	RAB39B	OMIM:311510
HP:0011842	Abnormal skeletal morphology	116442	RAB39B	ORPHA:2379
HP:0011842	Abnormal skeletal morphology	5058	PAK1	OMIM:618158
HP:0011842	Abnormal skeletal morphology	55599	RNPC3	OMIM:618160
HP:0011842	Abnormal skeletal morphology	55181	SMG8	OMIM:619268
HP:0011842	Abnormal skeletal morphology	4983	OPHN1	OMIM:300486
HP:0011842	Abnormal skeletal morphology	9442	MED27	OMIM:619286
HP:0011842	Abnormal skeletal morphology	9377	COX5A	OMIM:619064
HP:0011842	Abnormal skeletal morphology	4338	MOCS2	OMIM:252160
HP:0011842	Abnormal skeletal morphology	728294	D2HGDH	OMIM:600721
HP:0011842	Abnormal skeletal morphology	471	ATIC	OMIM:608688
HP:0011842	Abnormal skeletal morphology	254065	BRWD3	OMIM:300659
HP:0011842	Abnormal skeletal morphology	132	ADK	OMIM:614300
HP:0011842	Abnormal skeletal morphology	4792	NFKBIA	OMIM:612132
HP:0011842	Abnormal skeletal morphology	4337	MOCS1	OMIM:252150
HP:0011842	Abnormal skeletal morphology	128178	EDARADD	OMIM:224900
HP:0011842	Abnormal skeletal morphology	10913	EDAR	OMIM:224900
HP:0011842	Abnormal skeletal morphology	6519	SLC3A1	ORPHA:163690
HP:0011842	Abnormal skeletal morphology	6519	SLC3A1	ORPHA:163693
HP:0011842	Abnormal skeletal morphology	9581	PREPL	ORPHA:163690
HP:0011842	Abnormal skeletal morphology	9581	PREPL	ORPHA:163693
HP:0011842	Abnormal skeletal morphology	84628	NTNG2	OMIM:618718
HP:0011842	Abnormal skeletal morphology	5495	PPM1B	ORPHA:163693
HP:0011842	Abnormal skeletal morphology	79823	CAMKMT	ORPHA:163693
HP:0011842	Abnormal skeletal morphology	8777	MPDZ	OMIM:615219
HP:0011842	Abnormal skeletal morphology	3769	KCNJ13	ORPHA:65
HP:0011842	Abnormal skeletal morphology	343035	RD3	ORPHA:65
HP:0011842	Abnormal skeletal morphology	145226	RDH12	ORPHA:65
HP:0011842	Abnormal skeletal morphology	1406	CRX	ORPHA:65
HP:0011842	Abnormal skeletal morphology	10383	TUBB4B	ORPHA:65
HP:0011842	Abnormal skeletal morphology	85015	USP45	ORPHA:65
HP:0011842	Abnormal skeletal morphology	6121	RPE65	ORPHA:65
HP:0011842	Abnormal skeletal morphology	23418	CRB1	ORPHA:65
HP:0011842	Abnormal skeletal morphology	23746	AIPL1	ORPHA:65
HP:0011842	Abnormal skeletal morphology	3000	GUCY2D	ORPHA:65
HP:0011842	Abnormal skeletal morphology	9227	LRAT	ORPHA:65
HP:0011842	Abnormal skeletal morphology	55812	SPATA7	ORPHA:65
HP:0011842	Abnormal skeletal morphology	7287	TULP1	ORPHA:65
HP:0011842	Abnormal skeletal morphology	167691	LCA5	ORPHA:65
HP:0011842	Abnormal skeletal morphology	3614	IMPDH1	ORPHA:65
HP:0011842	Abnormal skeletal morphology	501	ALDH7A1	ORPHA:3006
HP:0011842	Abnormal skeletal morphology	11212	PLPBP	ORPHA:3006
HP:0011842	Abnormal skeletal morphology	23203	PMPCA	ORPHA:1170
HP:0011842	Abnormal skeletal morphology	3315	HSPB1	OMIM:608634
HP:0011842	Abnormal skeletal morphology	64919	BCL11B	OMIM:617237
HP:0011842	Abnormal skeletal morphology	51399	TRAPPC4	OMIM:618741
HP:0011842	Abnormal skeletal morphology	55209	SETD5	ORPHA:404440
HP:0011842	Abnormal skeletal morphology	55209	SETD5	OMIM:615761
HP:0011842	Abnormal skeletal morphology	6687	SPG7	ORPHA:99013
HP:0011842	Abnormal skeletal morphology	6687	SPG7	OMIM:607259
HP:0011842	Abnormal skeletal morphology	166378	AFG2A	OMIM:616577
HP:0011842	Abnormal skeletal morphology	7532	YWHAG	OMIM:617665
HP:0011842	Abnormal skeletal morphology	79029	AFG2B	OMIM:619616
HP:0011842	Abnormal skeletal morphology	4620	MYH2	OMIM:605637
HP:0011842	Abnormal skeletal morphology	3098	HK1	OMIM:618547
HP:0011842	Abnormal skeletal morphology	3098	HK1	OMIM:605285
HP:0011842	Abnormal skeletal morphology	3098	HK1	ORPHA:99953
HP:0011842	Abnormal skeletal morphology	2705	GJB1	ORPHA:101075
HP:0011842	Abnormal skeletal morphology	2705	GJB1	ORPHA:1175
HP:0011842	Abnormal skeletal morphology	2395	FXN	OMIM:229300
HP:0011842	Abnormal skeletal morphology	2395	FXN	ORPHA:95
HP:0011842	Abnormal skeletal morphology	3508	IGHMBP2	OMIM:616155
HP:0011842	Abnormal skeletal morphology	55151	TMEM38B	OMIM:615066
HP:0011842	Abnormal skeletal morphology	2583	B4GALNT1	OMIM:609195
HP:0011842	Abnormal skeletal morphology	2583	B4GALNT1	ORPHA:101006
HP:0011842	Abnormal skeletal morphology	5081	PAX7	OMIM:618578
HP:0011842	Abnormal skeletal morphology	2617	GARS1	OMIM:601472
HP:0011842	Abnormal skeletal morphology	2617	GARS1	OMIM:619042
HP:0011842	Abnormal skeletal morphology	5428	POLG	OMIM:258450
HP:0011842	Abnormal skeletal morphology	5428	POLG	OMIM:203700
HP:0011842	Abnormal skeletal morphology	23005	MAPKBP1	OMIM:617271
HP:0011842	Abnormal skeletal morphology	7084	TK2	ORPHA:254875
HP:0011842	Abnormal skeletal morphology	201163	FLCN	OMIM:610883
HP:0011842	Abnormal skeletal morphology	1760	DMPK	ORPHA:589821
HP:0011842	Abnormal skeletal morphology	80821	DDHD1	ORPHA:101008
HP:0011842	Abnormal skeletal morphology	80821	DDHD1	OMIM:609340
HP:0011842	Abnormal skeletal morphology	6304	SATB1	OMIM:619229
HP:0011842	Abnormal skeletal morphology	55975	KLHL7	OMIM:617055
HP:0011842	Abnormal skeletal morphology	2290	FOXG1	ORPHA:261144
HP:0011842	Abnormal skeletal morphology	2290	FOXG1	OMIM:613454
HP:0011842	Abnormal skeletal morphology	54809	SAMD9	OMIM:617053
HP:0011842	Abnormal skeletal morphology	2892	GRIA3	ORPHA:364028
HP:0011842	Abnormal skeletal morphology	9829	DNAJC6	ORPHA:391411
HP:0011842	Abnormal skeletal morphology	5420	PODXL	ORPHA:391411
HP:0011842	Abnormal skeletal morphology	8867	SYNJ1	ORPHA:391411
HP:0011842	Abnormal skeletal morphology	283446	MYO1H	OMIM:619482
HP:0011842	Abnormal skeletal morphology	1654	DDX3X	OMIM:300958
HP:0011842	Abnormal skeletal morphology	1654	DDX3X	ORPHA:457260
HP:0011842	Abnormal skeletal morphology	779	CACNA1S	OMIM:620246
HP:0011842	Abnormal skeletal morphology	116150	NUS1	OMIM:617082
HP:0011842	Abnormal skeletal morphology	1183	CLCN4	OMIM:300114
HP:0011842	Abnormal skeletal morphology	1183	CLCN4	ORPHA:485350
HP:0011842	Abnormal skeletal morphology	80308	FLAD1	OMIM:255100
HP:0011842	Abnormal skeletal morphology	50484	RRM2B	ORPHA:329336
HP:0011842	Abnormal skeletal morphology	246243	RNASEH1	ORPHA:329336
HP:0011842	Abnormal skeletal morphology	51506	UFC1	OMIM:618076
HP:0011842	Abnormal skeletal morphology	25778	DSTYK	OMIM:270750
HP:0011842	Abnormal skeletal morphology	5119	CHMP1A	OMIM:614961
HP:0011842	Abnormal skeletal morphology	57531	HACE1	ORPHA:464282
HP:0011842	Abnormal skeletal morphology	57531	HACE1	OMIM:616756
HP:0011842	Abnormal skeletal morphology	80324	PUS1	ORPHA:2598
HP:0011842	Abnormal skeletal morphology	51067	YARS2	ORPHA:2598
HP:0011842	Abnormal skeletal morphology	57165	GJC2	OMIM:613206
HP:0011842	Abnormal skeletal morphology	8518	ELP1	OMIM:223900
HP:0011842	Abnormal skeletal morphology	8518	ELP1	ORPHA:1764
HP:0011842	Abnormal skeletal morphology	11235	PDCD10	ORPHA:221061
HP:0011842	Abnormal skeletal morphology	83605	CCM2	ORPHA:221061
HP:0011842	Abnormal skeletal morphology	889	KRIT1	ORPHA:221061
HP:0011842	Abnormal skeletal morphology	6652	SORD	OMIM:618912
HP:0011842	Abnormal skeletal morphology	23097	CDK19	OMIM:618916
HP:0011842	Abnormal skeletal morphology	10616	RBCK1	OMIM:615895
HP:0011842	Abnormal skeletal morphology	9378	NRXN1	OMIM:614325
HP:0011842	Abnormal skeletal morphology	57449	PLEKHG5	OMIM:611067
HP:0011842	Abnormal skeletal morphology	57449	PLEKHG5	OMIM:615376
HP:0011842	Abnormal skeletal morphology	80152	CENPT	OMIM:618702
HP:0011842	Abnormal skeletal morphology	8292	COLQ	ORPHA:98915
HP:0011842	Abnormal skeletal morphology	8292	COLQ	OMIM:603034
HP:0011842	Abnormal skeletal morphology	3913	LAMB2	ORPHA:98915
HP:0011842	Abnormal skeletal morphology	10020	GNE	OMIM:269921
HP:0011842	Abnormal skeletal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0011842	Abnormal skeletal morphology	22930	RAB3GAP1	ORPHA:1387
HP:0011842	Abnormal skeletal morphology	8139	GAN	OMIM:256850
HP:0011842	Abnormal skeletal morphology	8139	GAN	ORPHA:643
HP:0011842	Abnormal skeletal morphology	87178	PNPT1	OMIM:608703
HP:0011842	Abnormal skeletal morphology	87178	PNPT1	ORPHA:101111
HP:0011842	Abnormal skeletal morphology	1804	DPP6	OMIM:616311
HP:0011842	Abnormal skeletal morphology	9692	PRORP	OMIM:619737
HP:0011842	Abnormal skeletal morphology	7920	ABHD16A	OMIM:619735
HP:0011842	Abnormal skeletal morphology	5424	POLD1	OMIM:615381
HP:0011842	Abnormal skeletal morphology	88	ACTN2	OMIM:618654
HP:0011842	Abnormal skeletal morphology	54840	APTX	OMIM:208920
HP:0011842	Abnormal skeletal morphology	26057	ANKRD17	OMIM:619504
HP:0011842	Abnormal skeletal morphology	284439	SLC25A42	OMIM:618416
HP:0011842	Abnormal skeletal morphology	84504	NKX6-2	ORPHA:527497
HP:0011842	Abnormal skeletal morphology	9453	GGPS1	OMIM:619518
HP:0011842	Abnormal skeletal morphology	54902	TTC19	OMIM:615157
HP:0011842	Abnormal skeletal morphology	8898	MTMR2	OMIM:601382
HP:0011842	Abnormal skeletal morphology	59336	PRDM13	OMIM:619761
HP:0011842	Abnormal skeletal morphology	22	ABCB7	ORPHA:2802
HP:0011842	Abnormal skeletal morphology	9562	MINPP1	OMIM:619527
HP:0011842	Abnormal skeletal morphology	54941	RNF125	OMIM:616260
HP:0011842	Abnormal skeletal morphology	1107	CHD3	OMIM:618205
HP:0011842	Abnormal skeletal morphology	51117	COQ4	OMIM:616276
HP:0011842	Abnormal skeletal morphology	6857	SYT1	OMIM:618218
HP:0011842	Abnormal skeletal morphology	6857	SYT1	ORPHA:522077
HP:0011842	Abnormal skeletal morphology	54892	NCAPG2	OMIM:618460
HP:0011842	Abnormal skeletal morphology	22854	NTNG1	ORPHA:3095
HP:0011842	Abnormal skeletal morphology	9568	GABBR2	ORPHA:3095
HP:0011842	Abnormal skeletal morphology	9568	GABBR2	OMIM:617904
HP:0011842	Abnormal skeletal morphology	51103	NDUFAF1	OMIM:618234
HP:0011842	Abnormal skeletal morphology	23586	RIGI	OMIM:616298
HP:0011842	Abnormal skeletal morphology	79133	NDUFAF5	OMIM:618238
HP:0011842	Abnormal skeletal morphology	137682	NDUFAF6	OMIM:618239
HP:0011842	Abnormal skeletal morphology	55967	NDUFA12	OMIM:618244
HP:0011842	Abnormal skeletal morphology	55572	FOXRED1	OMIM:618241
HP:0011842	Abnormal skeletal morphology	84668	HYCC1	OMIM:610532
HP:0011842	Abnormal skeletal morphology	9531	BAG3	OMIM:612954
HP:0011842	Abnormal skeletal morphology	80185	TTI2	ORPHA:391307
HP:0011842	Abnormal skeletal morphology	5457	POU4F1	OMIM:619352
HP:0011842	Abnormal skeletal morphology	2776	GNAQ	ORPHA:624
HP:0011842	Abnormal skeletal morphology	90522	YIF1B	OMIM:619125
HP:0011842	Abnormal skeletal morphology	440138	ALG11	ORPHA:280071
HP:0011842	Abnormal skeletal morphology	5080	PAX6	ORPHA:893
HP:0011842	Abnormal skeletal morphology	627	BDNF	ORPHA:893
HP:0011842	Abnormal skeletal morphology	7490	WT1	ORPHA:893
HP:0011842	Abnormal skeletal morphology	55074	OXR1	OMIM:213000
HP:0011842	Abnormal skeletal morphology	5076	PAX2	OMIM:120330
HP:0011842	Abnormal skeletal morphology	23769	FLRT1	ORPHA:320406
HP:0011842	Abnormal skeletal morphology	1119	CHKA	OMIM:620023
HP:0011842	Abnormal skeletal morphology	118987	PDZD8	OMIM:620021
HP:0011842	Abnormal skeletal morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0011842	Abnormal skeletal morphology	1351	COX8A	OMIM:619059
HP:0011842	Abnormal skeletal morphology	100131801	PET100	OMIM:619055
HP:0011842	Abnormal skeletal morphology	374393	FAM111B	OMIM:615704
HP:0011842	Abnormal skeletal morphology	121512	FGD4	OMIM:609311
HP:0011842	Abnormal skeletal morphology	1267	CNP	OMIM:619071
HP:0011842	Abnormal skeletal morphology	26353	HSPB8	OMIM:608673
HP:0011842	Abnormal skeletal morphology	23064	SETX	OMIM:606002
HP:0011842	Abnormal skeletal morphology	89874	SLC25A21	OMIM:618811
HP:0011842	Abnormal skeletal morphology	57731	SPTBN4	OMIM:617519
HP:0011842	Abnormal skeletal morphology	51733	UPB1	OMIM:613161
HP:0011842	Abnormal skeletal morphology	55651	NHP2	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	79650	USB1	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	55135	WRAP53	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	51750	RTEL1	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	4869	NPM1	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	7012	TERC	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	55505	NOP10	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	5073	PARN	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	7015	TERT	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	1736	DKC1	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	7298	TYMS	ORPHA:1775
HP:0011842	Abnormal skeletal morphology	9570	GOSR2	OMIM:614018
HP:0011842	Abnormal skeletal morphology	8504	PEX3	ORPHA:912
HP:0011842	Abnormal skeletal morphology	8799	PEX11B	ORPHA:912
HP:0011842	Abnormal skeletal morphology	5190	PEX6	ORPHA:912
HP:0011842	Abnormal skeletal morphology	5193	PEX12	ORPHA:912
HP:0011842	Abnormal skeletal morphology	5194	PEX13	ORPHA:912
HP:0011842	Abnormal skeletal morphology	5195	PEX14	ORPHA:912
HP:0011842	Abnormal skeletal morphology	5192	PEX10	ORPHA:912
HP:0011842	Abnormal skeletal morphology	55858	TMEM165	OMIM:614727
HP:0011842	Abnormal skeletal morphology	3313	HSPA9	OMIM:616854
HP:0011842	Abnormal skeletal morphology	1806	DPYD	ORPHA:1675
HP:0011842	Abnormal skeletal morphology	23761	PISD	OMIM:618889
HP:0011842	Abnormal skeletal morphology	2099	ESR1	ORPHA:785
HP:0011842	Abnormal skeletal morphology	1588	CYP19A1	ORPHA:91
HP:0011842	Abnormal skeletal morphology	1029	CDKN2A	ORPHA:524
HP:0011842	Abnormal skeletal morphology	4193	MDM2	ORPHA:524
HP:0011842	Abnormal skeletal morphology	78989	COLEC11	OMIM:265050
HP:0011842	Abnormal skeletal morphology	7080	NKX2-1	ORPHA:209905
HP:0011842	Abnormal skeletal morphology	8985	PLOD3	OMIM:612394
HP:0011842	Abnormal skeletal morphology	4591	TRIM37	OMIM:253250
HP:0011842	Abnormal skeletal morphology	4591	TRIM37	ORPHA:2576
HP:0011842	Abnormal skeletal morphology	4524	MTHFR	ORPHA:563612
HP:0011842	Abnormal skeletal morphology	57216	VANGL2	ORPHA:563612
HP:0011842	Abnormal skeletal morphology	5162	PDHB	ORPHA:255138
HP:0011842	Abnormal skeletal morphology	6591	SNAI2	ORPHA:2884
HP:0011842	Abnormal skeletal morphology	3815	KIT	ORPHA:2884
HP:0011842	Abnormal skeletal morphology	166929	SGMS2	OMIM:126550
HP:0011842	Abnormal skeletal morphology	84196	USP48	ORPHA:96253
HP:0011842	Abnormal skeletal morphology	9101	USP8	ORPHA:96253
HP:0011842	Abnormal skeletal morphology	64072	CDH23	ORPHA:96253
HP:0011842	Abnormal skeletal morphology	2908	NR3C1	ORPHA:96253
HP:0011842	Abnormal skeletal morphology	7252	TSHB	ORPHA:90674
HP:0011842	Abnormal skeletal morphology	29899	GPSM2	OMIM:604213
HP:0011842	Abnormal skeletal morphology	8074	FGF23	ORPHA:89937
HP:0011842	Abnormal skeletal morphology	8074	FGF23	OMIM:193100
HP:0011842	Abnormal skeletal morphology	570	BAAT	OMIM:619232
HP:0011842	Abnormal skeletal morphology	6718	AKR1D1	ORPHA:79303
HP:0011842	Abnormal skeletal morphology	2628	GATM	OMIM:134600
HP:0011842	Abnormal skeletal morphology	1962	EHHADH	OMIM:615605
HP:0011842	Abnormal skeletal morphology	9414	TJP2	OMIM:607748
HP:0011842	Abnormal skeletal morphology	3172	HNF4A	OMIM:616026
HP:0011842	Abnormal skeletal morphology	50617	ATP6V0A4	OMIM:602722
HP:0011842	Abnormal skeletal morphology	6834	SURF1	OMIM:616684
HP:0011842	Abnormal skeletal morphology	3008	H1-4	OMIM:617537
HP:0011842	Abnormal skeletal morphology	3149	HMGB3	OMIM:300915
HP:0011842	Abnormal skeletal morphology	1763	DNA2	OMIM:615807
HP:0011842	Abnormal skeletal morphology	9147	NEMF	OMIM:619099
HP:0011842	Abnormal skeletal morphology	2744	GLS	OMIM:618339
HP:0011842	Abnormal skeletal morphology	4722	NDUFS3	OMIM:618230
HP:0011842	Abnormal skeletal morphology	10382	TUBB4A	ORPHA:98805
HP:0011842	Abnormal skeletal morphology	4137	MAPT	OMIM:260540
HP:0011842	Abnormal skeletal morphology	3703	STT3A	OMIM:619714
HP:0011842	Abnormal skeletal morphology	2158	F9	OMIM:306900
HP:0011842	Abnormal skeletal morphology	11117	EMILIN1	OMIM:620080
HP:0011842	Abnormal skeletal morphology	57592	ZNF687	OMIM:616833
HP:0011842	Abnormal skeletal morphology	54790	TET2	ORPHA:98850
HP:0011842	Abnormal skeletal morphology	861	RUNX1	ORPHA:98850
HP:0011842	Abnormal skeletal morphology	6427	SRSF2	ORPHA:98850
HP:0011842	Abnormal skeletal morphology	64065	PERP	ORPHA:659
HP:0011842	Abnormal skeletal morphology	7390	UROS	OMIM:263700
HP:0011842	Abnormal skeletal morphology	7390	UROS	ORPHA:79277
HP:0011842	Abnormal skeletal morphology	7389	UROD	ORPHA:95159
HP:0011842	Abnormal skeletal morphology	950	SCARB2	ORPHA:77259
HP:0011842	Abnormal skeletal morphology	7443	VRK1	OMIM:607596
HP:0011842	Abnormal skeletal morphology	2632	GBE1	OMIM:232500
HP:0011842	Abnormal skeletal morphology	1020	CDK5	OMIM:616342
HP:0011842	Abnormal skeletal morphology	23287	AGTPBP1	ORPHA:2254
HP:0011842	Abnormal skeletal morphology	3800	KIF5C	OMIM:615282
HP:0011842	Abnormal skeletal morphology	91574	MTRFR	ORPHA:320375
HP:0011842	Abnormal skeletal morphology	2303	FOXC2	OMIM:153400
HP:0011842	Abnormal skeletal morphology	7167	TPI1	OMIM:615512
HP:0011842	Abnormal skeletal morphology	91875	TTC5	OMIM:619244
HP:0011842	Abnormal skeletal morphology	9517	SPTLC2	ORPHA:36386
HP:0011842	Abnormal skeletal morphology	55703	POLR3B	OMIM:614381
HP:0011842	Abnormal skeletal morphology	23499	MACF1	ORPHA:572013
HP:0011842	Abnormal skeletal morphology	23396	PIP5K1C	OMIM:611369
HP:0011842	Abnormal skeletal morphology	9499	MYOT	ORPHA:98911
HP:0011842	Abnormal skeletal morphology	5981	RFC1	ORPHA:504476
HP:0011842	Abnormal skeletal morphology	57156	TMEM63C	OMIM:619966
HP:0011842	Abnormal skeletal morphology	3991	LIPE	OMIM:615980
HP:0011842	Abnormal skeletal morphology	10126	DNAL4	ORPHA:238722
HP:0011842	Abnormal skeletal morphology	9423	NTN1	ORPHA:238722
HP:0011842	Abnormal skeletal morphology	284086	NEK8	OMIM:615415
HP:0011842	Abnormal skeletal morphology	1576	CYP3A4	OMIM:619073
HP:0011842	Abnormal skeletal morphology	286053	NSMCE2	OMIM:617253
HP:0011842	Abnormal skeletal morphology	6424	SFRP4	OMIM:265900
HP:0011842	Abnormal skeletal morphology	65082	VPS33A	OMIM:617303
HP:0011842	Abnormal skeletal morphology	4318	MMP9	OMIM:613073
HP:0011842	Abnormal skeletal morphology	372	ARCN1	OMIM:617164
HP:0011842	Abnormal skeletal morphology	3425	IDUA	OMIM:607014
HP:0011842	Abnormal skeletal morphology	1294	COL7A1	ORPHA:89843
HP:0011842	Abnormal skeletal morphology	1758	DMP1	ORPHA:289176
HP:0011842	Abnormal skeletal morphology	5167	ENPP1	ORPHA:289176
HP:0011842	Abnormal skeletal morphology	567	B2M	OMIM:241600
HP:0011842	Abnormal skeletal morphology	5251	PHEX	OMIM:307800
HP:0011842	Abnormal skeletal morphology	9663	LPIN2	ORPHA:77297
HP:0011842	Abnormal skeletal morphology	26503	SLC17A5	OMIM:269920
HP:0011842	Abnormal skeletal morphology	846	CASR	OMIM:239200
HP:0011842	Abnormal skeletal morphology	9382	COG1	OMIM:611209
HP:0011842	Abnormal skeletal morphology	9382	COG1	ORPHA:263508
HP:0011842	Abnormal skeletal morphology	90993	CREB3L1	OMIM:616229
HP:0011842	Abnormal skeletal morphology	55191	NADSYN1	OMIM:618845
HP:0011842	Abnormal skeletal morphology	51025	PAM16	OMIM:613320
HP:0011842	Abnormal skeletal morphology	4914	NTRK1	ORPHA:642
HP:0011842	Abnormal skeletal morphology	6775	STAT4	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	3560	IL2RB	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	79722	ANKRD55	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	26191	PTPN22	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	919	CD247	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	3559	IL2RA	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	5771	PTPN2	ORPHA:85410
HP:0011842	Abnormal skeletal morphology	7421	VDR	OMIM:277440
HP:0011842	Abnormal skeletal morphology	120227	CYP2R1	OMIM:600081
HP:0011842	Abnormal skeletal morphology	120227	CYP2R1	ORPHA:289157
HP:0011842	Abnormal skeletal morphology	1594	CYP27B1	OMIM:264700
HP:0011842	Abnormal skeletal morphology	1594	CYP27B1	ORPHA:289157
HP:0011842	Abnormal skeletal morphology	1184	CLCN5	OMIM:300554
HP:0011842	Abnormal skeletal morphology	1184	CLCN5	OMIM:300009
HP:0011842	Abnormal skeletal morphology	4625	MYH7	ORPHA:437572
HP:0011842	Abnormal skeletal morphology	142680	SLC34A3	OMIM:241530
HP:0011842	Abnormal skeletal morphology	760	CA2	OMIM:259730
HP:0011842	Abnormal skeletal morphology	8600	TNFSF11	OMIM:259710
HP:0011842	Abnormal skeletal morphology	4233	MET	OMIM:607278
HP:0011842	Abnormal skeletal morphology	56172	ANKH	OMIM:118600
HP:0011842	Abnormal skeletal morphology	2157	F8	ORPHA:169805
HP:0011842	Abnormal skeletal morphology	1777	DNASE2	OMIM:619858
HP:0011842	Abnormal skeletal morphology	249	ALPL	OMIM:146300
HP:0011842	Abnormal skeletal morphology	654	BMP6	ORPHA:465508
HP:0011842	Abnormal skeletal morphology	3077	HFE	ORPHA:465508
HP:0011842	Abnormal skeletal morphology	3077	HFE	OMIM:235200
HP:0011842	Abnormal skeletal morphology	3572	IL6ST	OMIM:618523
HP:0011842	Abnormal skeletal morphology	25939	SAMHD1	OMIM:612952
HP:0011842	Abnormal skeletal morphology	57817	HAMP	ORPHA:79230
HP:0011842	Abnormal skeletal morphology	148738	HJV	ORPHA:79230
HP:0011842	Abnormal skeletal morphology	4803	NGF	OMIM:608654
HP:0011842	Abnormal skeletal morphology	5621	PRNP	ORPHA:157941
HP:0011842	Abnormal skeletal morphology	3714	JAG2	OMIM:619566
HP:0011842	Abnormal skeletal morphology	7138	TNNT1	ORPHA:98902
HP:0011842	Abnormal skeletal morphology	7138	TNNT1	OMIM:605355
HP:0011842	Abnormal skeletal morphology	339855	KY	OMIM:617114
HP:0011842	Abnormal skeletal morphology	57498	KIDINS220	OMIM:619501
HP:0011842	Abnormal skeletal morphology	6137	RPL13	OMIM:618728
HP:0011842	Abnormal skeletal morphology	2588	GALNS	OMIM:253000
HP:0011842	Abnormal skeletal morphology	7473	WNT3	OMIM:273395
HP:0011842	Abnormal skeletal morphology	7473	WNT3	ORPHA:3301
HP:0011842	Abnormal skeletal morphology	340419	RSPO2	ORPHA:3301
HP:0011842	Abnormal skeletal morphology	7040	TGFB1	ORPHA:1328
HP:0011842	Abnormal skeletal morphology	10804	GJB6	ORPHA:477
HP:0011842	Abnormal skeletal morphology	2706	GJB2	ORPHA:477
HP:0011842	Abnormal skeletal morphology	55148	UBR7	OMIM:619189
HP:0011842	Abnormal skeletal morphology	6812	STXBP1	ORPHA:495818
HP:0011842	Abnormal skeletal morphology	10082	GPC6	OMIM:258315
HP:0011842	Abnormal skeletal morphology	6326	SCN2A	ORPHA:33069
HP:0011842	Abnormal skeletal morphology	6326	SCN2A	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	2554	GABRA1	ORPHA:33069
HP:0011842	Abnormal skeletal morphology	6324	SCN1B	ORPHA:33069
HP:0011842	Abnormal skeletal morphology	6324	SCN1B	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	57526	PCDH19	ORPHA:33069
HP:0011842	Abnormal skeletal morphology	2566	GABRG2	ORPHA:33069
HP:0011842	Abnormal skeletal morphology	2566	GABRG2	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	112755	STX1B	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	348980	HCN1	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	84059	ADGRV1	ORPHA:36387
HP:0011842	Abnormal skeletal morphology	145258	GSC	OMIM:602471
HP:0011842	Abnormal skeletal morphology	3899	AFF3	OMIM:619297
HP:0011842	Abnormal skeletal morphology	6904	TBCD	ORPHA:496641
HP:0011842	Abnormal skeletal morphology	8878	SQSTM1	OMIM:167250
HP:0011842	Abnormal skeletal morphology	4507	MTAP	OMIM:112250
HP:0011842	Abnormal skeletal morphology	5879	RAC1	ORPHA:500159
HP:0011842	Abnormal skeletal morphology	55768	NGLY1	ORPHA:404454
HP:0011842	Abnormal skeletal morphology	65992	DDRGK1	ORPHA:93352
HP:0011842	Abnormal skeletal morphology	2273	FHL1	OMIM:300696
HP:0011842	Abnormal skeletal morphology	57190	SELENON	ORPHA:97244
HP:0011842	Abnormal skeletal morphology	1756	DMD	OMIM:310200
HP:0011842	Abnormal skeletal morphology	4976	OPA1	OMIM:210000
HP:0011842	Abnormal skeletal morphology	4522	MTHFD1	OMIM:617780
HP:0011842	Abnormal skeletal morphology	4615	MYD88	OMIM:612260
HP:0011842	Abnormal skeletal morphology	3426	CFI	OMIM:610984
HP:0011842	Abnormal skeletal morphology	2222	FDFT1	OMIM:618156
HP:0011842	Abnormal skeletal morphology	3035	HARS1	ORPHA:488333
HP:0011842	Abnormal skeletal morphology	51574	LARP7	ORPHA:319671
HP:0011842	Abnormal skeletal morphology	341208	HEPHL1	OMIM:261990
HP:0011842	Abnormal skeletal morphology	5824	PEX19	OMIM:614886
HP:0011842	Abnormal skeletal morphology	6916	TBXAS1	ORPHA:1802
HP:0011842	Abnormal skeletal morphology	9276	COPB2	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	9928	KIF14	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	284403	WDR62	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	84879	MFSD2A	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	4176	MCM7	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	29081	METTL5	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	23310	NCAPD3	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	259266	ASPM	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	7109	TRAPPC10	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	1911	PHC1	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	6884	TAF13	ORPHA:2512
HP:0011842	Abnormal skeletal morphology	51102	MECR	OMIM:617282
HP:0011842	Abnormal skeletal morphology	3074	HEXB	ORPHA:309162
HP:0011842	Abnormal skeletal morphology	57679	ALS2	OMIM:205100
HP:0011842	Abnormal skeletal morphology	55131	RBM28	OMIM:612079
HP:0011842	Abnormal skeletal morphology	51091	SEPSECS	OMIM:613811
HP:0011842	Abnormal skeletal morphology	819	CAMLG	OMIM:620201
HP:0011842	Abnormal skeletal morphology	1308	COL17A1	ORPHA:251393
HP:0011842	Abnormal skeletal morphology	83879	CDCA7	OMIM:616910
HP:0011842	Abnormal skeletal morphology	5176	SERPINF1	OMIM:613982
HP:0011842	Abnormal skeletal morphology	8106	PABPN1	ORPHA:270
HP:0011842	Abnormal skeletal morphology	92667	MGME1	ORPHA:352447
HP:0011842	Abnormal skeletal morphology	92667	MGME1	OMIM:615084
HP:0011842	Abnormal skeletal morphology	84876	ORAI1	OMIM:615883
HP:0011842	Abnormal skeletal morphology	22947	DUX4L1	ORPHA:269
HP:0011842	Abnormal skeletal morphology	1789	DNMT3B	ORPHA:269
HP:0011842	Abnormal skeletal morphology	2483	FRG1	ORPHA:269
HP:0011842	Abnormal skeletal morphology	23347	SMCHD1	ORPHA:269
HP:0011842	Abnormal skeletal morphology	100288687	DUX4	ORPHA:269
HP:0011842	Abnormal skeletal morphology	8291	DYSF	ORPHA:268
HP:0011842	Abnormal skeletal morphology	9907	AP5Z1	ORPHA:306511
HP:0011842	Abnormal skeletal morphology	10661	KLF1	ORPHA:46532
HP:0011842	Abnormal skeletal morphology	3047	HBG1	ORPHA:46532
HP:0011842	Abnormal skeletal morphology	3048	HBG2	ORPHA:46532
HP:0011842	Abnormal skeletal morphology	84905	ZNF341	OMIM:618282
HP:0011842	Abnormal skeletal morphology	4771	NF2	ORPHA:2495
HP:0011842	Abnormal skeletal morphology	5589	PRKCSH	OMIM:174050
HP:0011842	Abnormal skeletal morphology	5589	PRKCSH	ORPHA:2924
HP:0011842	Abnormal skeletal morphology	56606	SLC2A9	ORPHA:94088
HP:0011842	Abnormal skeletal morphology	116085	SLC22A12	ORPHA:94088
HP:0011842	Abnormal skeletal morphology	3075	CFH	ORPHA:244242
HP:0011842	Abnormal skeletal morphology	4179	CD46	ORPHA:244242
HP:0011842	Abnormal skeletal morphology	101101692	HELLPAR	ORPHA:244242
HP:0011842	Abnormal skeletal morphology	11231	SEC63	ORPHA:2924
HP:0011842	Abnormal skeletal morphology	7428	VHL	ORPHA:892
HP:0011842	Abnormal skeletal morphology	5921	RASA1	ORPHA:90307
HP:0011842	Abnormal skeletal morphology	285282	RABL3	ORPHA:1333
HP:0011842	Abnormal skeletal morphology	23022	PALLD	ORPHA:1333
HP:0011842	Abnormal skeletal morphology	1371	CPOX	ORPHA:79273
HP:0011842	Abnormal skeletal morphology	9096	TBX18	OMIM:143400
HP:0011842	Abnormal skeletal morphology	5498	PPOX	ORPHA:79473
HP:0011842	Abnormal skeletal morphology	3145	HMBS	ORPHA:79276
HP:0011842	Abnormal skeletal morphology	4665	NAB2	ORPHA:2126
HP:0011842	Abnormal skeletal morphology	6778	STAT6	ORPHA:2126
HP:0011842	Abnormal skeletal morphology	311	ANXA11	OMIM:619733
HP:0011842	Abnormal skeletal morphology	6443	SGCB	OMIM:604286
HP:0011842	Abnormal skeletal morphology	2992	GYG1	OMIM:613507
HP:0011842	Abnormal skeletal morphology	6444	SGCD	OMIM:601287
HP:0011842	Abnormal skeletal morphology	6444	SGCD	ORPHA:219
HP:0011842	Abnormal skeletal morphology	55791	LRIF1	OMIM:619477
HP:0011842	Abnormal skeletal morphology	23676	SMPX	OMIM:301075
HP:0011842	Abnormal skeletal morphology	5332	PLCB4	OMIM:614669
HP:0011842	Abnormal skeletal morphology	3166	HMX1	OMIM:612109
HP:0011842	Abnormal skeletal morphology	64175	P3H1	OMIM:610915
HP:0011842	Abnormal skeletal morphology	3417	IDH1	ORPHA:99646
HP:0011842	Abnormal skeletal morphology	375	ARF1	ORPHA:98892
HP:0011842	Abnormal skeletal morphology	160418	TMTC3	ORPHA:98892
HP:0011842	Abnormal skeletal morphology	10564	ARFGEF2	ORPHA:98892
HP:0011842	Abnormal skeletal morphology	55780	ERMARD	ORPHA:98892
HP:0011842	Abnormal skeletal morphology	26175	LYSET	OMIM:619345
HP:0011842	Abnormal skeletal morphology	11253	MAN1B1	ORPHA:397941
HP:0011842	Abnormal skeletal morphology	11253	MAN1B1	OMIM:614202
HP:0011842	Abnormal skeletal morphology	340533	NEXMIF	OMIM:300912
HP:0011842	Abnormal skeletal morphology	1139	CHRNA7	ORPHA:199318
HP:0011842	Abnormal skeletal morphology	1139	CHRNA7	OMIM:612001
HP:0011842	Abnormal skeletal morphology	2132	EXT2	OMIM:616682
HP:0011842	Abnormal skeletal morphology	23135	KDM6B	OMIM:618505
HP:0011842	Abnormal skeletal morphology	6659	SOX4	OMIM:618506
HP:0011842	Abnormal skeletal morphology	1947	EFNB1	ORPHA:1520
HP:0011842	Abnormal skeletal morphology	1947	EFNB1	OMIM:304110
HP:0011842	Abnormal skeletal morphology	4010	LMX1B	ORPHA:2614
HP:0011842	Abnormal skeletal morphology	4010	LMX1B	OMIM:161200
HP:0011842	Abnormal skeletal morphology	10054	UBA2	OMIM:619959
HP:0011842	Abnormal skeletal morphology	51126	NAA20	OMIM:619717
HP:0011842	Abnormal skeletal morphology	9820	CUL7	ORPHA:2616
HP:0011842	Abnormal skeletal morphology	9820	CUL7	OMIM:273750
HP:0011842	Abnormal skeletal morphology	23363	OBSL1	ORPHA:2616
HP:0011842	Abnormal skeletal morphology	83987	CCDC8	ORPHA:2616
HP:0011842	Abnormal skeletal morphology	83987	CCDC8	OMIM:614205
HP:0011842	Abnormal skeletal morphology	7021	TFAP2B	OMIM:169100
HP:0011842	Abnormal skeletal morphology	7021	TFAP2B	ORPHA:46627
HP:0011842	Abnormal skeletal morphology	7021	TFAP2B	OMIM:617035
HP:0011842	Abnormal skeletal morphology	3481	IGF2	ORPHA:231140
HP:0011842	Abnormal skeletal morphology	3481	IGF2	ORPHA:231144
HP:0011842	Abnormal skeletal morphology	3481	IGF2	OMIM:616489
HP:0011842	Abnormal skeletal morphology	3481	IGF2	OMIM:180860
HP:0011842	Abnormal skeletal morphology	3481	IGF2	ORPHA:397590
HP:0011842	Abnormal skeletal morphology	283120	H19	ORPHA:231140
HP:0011842	Abnormal skeletal morphology	283120	H19	ORPHA:231144
HP:0011842	Abnormal skeletal morphology	197131	UBR1	OMIM:243800
HP:0011842	Abnormal skeletal morphology	5932	RBBP8	OMIM:606744
HP:0011842	Abnormal skeletal morphology	5932	RBBP8	ORPHA:808
HP:0011842	Abnormal skeletal morphology	4286	MITF	OMIM:617306
HP:0011842	Abnormal skeletal morphology	23384	SPECC1L	ORPHA:1519
HP:0011842	Abnormal skeletal morphology	112752	IFT43	ORPHA:1515
HP:0011842	Abnormal skeletal morphology	51098	IFT52	ORPHA:1515
HP:0011842	Abnormal skeletal morphology	55764	IFT122	ORPHA:1515
HP:0011842	Abnormal skeletal morphology	57728	WDR19	ORPHA:1515
HP:0011842	Abnormal skeletal morphology	55636	CHD7	ORPHA:138
HP:0011842	Abnormal skeletal morphology	9723	SEMA3E	ORPHA:138
HP:0011842	Abnormal skeletal morphology	90	ACVR1	OMIM:135100
HP:0011842	Abnormal skeletal morphology	90	ACVR1	ORPHA:337
HP:0011842	Abnormal skeletal morphology	3190	HNRNPK	OMIM:616580
HP:0011842	Abnormal skeletal morphology	54880	BCOR	ORPHA:2712
HP:0011842	Abnormal skeletal morphology	54880	BCOR	ORPHA:568
HP:0011842	Abnormal skeletal morphology	10606	PAICS	OMIM:619859
HP:0011842	Abnormal skeletal morphology	1009	CDH11	OMIM:619736
HP:0011842	Abnormal skeletal morphology	652	BMP4	OMIM:607932
HP:0011842	Abnormal skeletal morphology	1301	COL11A1	OMIM:228520
HP:0011842	Abnormal skeletal morphology	1301	COL11A1	OMIM:154780
HP:0011842	Abnormal skeletal morphology	23327	NEDD4L	OMIM:617201
HP:0011842	Abnormal skeletal morphology	7291	TWIST1	OMIM:101400
HP:0011842	Abnormal skeletal morphology	7291	TWIST1	ORPHA:794
HP:0011842	Abnormal skeletal morphology	3981	LIG4	ORPHA:235
HP:0011842	Abnormal skeletal morphology	3981	LIG4	ORPHA:99812
HP:0011842	Abnormal skeletal morphology	3981	LIG4	OMIM:606593
HP:0011842	Abnormal skeletal morphology	54888	NSUN2	ORPHA:235
HP:0011842	Abnormal skeletal morphology	1182	CLCN3	OMIM:619512
HP:0011842	Abnormal skeletal morphology	85301	COL27A1	OMIM:615155
HP:0011842	Abnormal skeletal morphology	5048	PAFAH1B1	ORPHA:217385
HP:0011842	Abnormal skeletal morphology	5048	PAFAH1B1	ORPHA:531
HP:0011842	Abnormal skeletal morphology	7531	YWHAE	ORPHA:217385
HP:0011842	Abnormal skeletal morphology	7531	YWHAE	ORPHA:531
HP:0011842	Abnormal skeletal morphology	2121	EVC	OMIM:193530
HP:0011842	Abnormal skeletal morphology	2121	EVC	ORPHA:952
HP:0011842	Abnormal skeletal morphology	132884	EVC2	OMIM:193530
HP:0011842	Abnormal skeletal morphology	132884	EVC2	ORPHA:952
HP:0011842	Abnormal skeletal morphology	8364	H4C3	OMIM:619758
HP:0011842	Abnormal skeletal morphology	5590	PRKCZ	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	2563	GABRD	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	8510	MMP23B	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	7798	LUZP1	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	6497	SKI	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	10630	PDPN	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	3339	HSPG2	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	10277	UBE4B	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	8514	KCNAB2	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	473	RERE	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	473	RERE	OMIM:616975
HP:0011842	Abnormal skeletal morphology	63976	PRDM16	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	54897	CASZ1	ORPHA:1606
HP:0011842	Abnormal skeletal morphology	641	BLM	OMIM:210900
HP:0011842	Abnormal skeletal morphology	57492	ARID1B	ORPHA:251056
HP:0011842	Abnormal skeletal morphology	57492	ARID1B	OMIM:135900
HP:0011842	Abnormal skeletal morphology	63895	PIEZO2	ORPHA:376
HP:0011842	Abnormal skeletal morphology	23314	SATB2	ORPHA:576283
HP:0011842	Abnormal skeletal morphology	23314	SATB2	ORPHA:251028
HP:0011842	Abnormal skeletal morphology	23314	SATB2	ORPHA:251019
HP:0011842	Abnormal skeletal morphology	2239	GPC4	ORPHA:373
HP:0011842	Abnormal skeletal morphology	2239	GPC4	ORPHA:2662
HP:0011842	Abnormal skeletal morphology	2719	GPC3	ORPHA:373
HP:0011842	Abnormal skeletal morphology	23162	MAPK8IP3	OMIM:618443
HP:0011842	Abnormal skeletal morphology	2317	FLNB	OMIM:272460
HP:0011842	Abnormal skeletal morphology	79087	ALG12	ORPHA:79324
HP:0011842	Abnormal skeletal morphology	6473	SHOX	ORPHA:240
HP:0011842	Abnormal skeletal morphology	26100	WIPI2	OMIM:618453
HP:0011842	Abnormal skeletal morphology	10533	ATG7	OMIM:619422
HP:0011842	Abnormal skeletal morphology	8295	TRRAP	OMIM:618454
HP:0011842	Abnormal skeletal morphology	9742	IFT140	OMIM:266920
HP:0011842	Abnormal skeletal morphology	7227	TRPS1	ORPHA:77258
HP:0011842	Abnormal skeletal morphology	3479	IGF1	ORPHA:73272
HP:0011842	Abnormal skeletal morphology	3479	IGF1	OMIM:608747
HP:0011842	Abnormal skeletal morphology	650	BMP2	OMIM:112600
HP:0011842	Abnormal skeletal morphology	650	BMP2	ORPHA:93396
HP:0011842	Abnormal skeletal morphology	650	BMP2	OMIM:617877
HP:0011842	Abnormal skeletal morphology	6477	SIAH1	OMIM:619314
HP:0011842	Abnormal skeletal morphology	8473	OGT	OMIM:300997
HP:0011842	Abnormal skeletal morphology	1798	DPAGT1	OMIM:608093
HP:0011842	Abnormal skeletal morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0011842	Abnormal skeletal morphology	100151683	RNU4ATAC	OMIM:226960
HP:0011842	Abnormal skeletal morphology	100151683	RNU4ATAC	OMIM:616651
HP:0011842	Abnormal skeletal morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011842	Abnormal skeletal morphology	117581	TWIST2	OMIM:200110
HP:0011842	Abnormal skeletal morphology	117581	TWIST2	OMIM:209885
HP:0011842	Abnormal skeletal morphology	23030	KDM4B	OMIM:619320
HP:0011842	Abnormal skeletal morphology	9126	SMC3	OMIM:610759
HP:0011842	Abnormal skeletal morphology	9126	SMC3	ORPHA:199
HP:0011842	Abnormal skeletal morphology	1725	DHPS	OMIM:618480
HP:0011842	Abnormal skeletal morphology	55777	MBD5	OMIM:156200
HP:0011842	Abnormal skeletal morphology	55777	MBD5	ORPHA:228402
HP:0011842	Abnormal skeletal morphology	5980	REV3L	ORPHA:570
HP:0011842	Abnormal skeletal morphology	23129	PLXND1	ORPHA:570
HP:0011842	Abnormal skeletal morphology	4784	NFIX	OMIM:602535
HP:0011842	Abnormal skeletal morphology	4998	ORC1	OMIM:224690
HP:0011842	Abnormal skeletal morphology	4998	ORC1	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	4052	LTBP1	OMIM:619451
HP:0011842	Abnormal skeletal morphology	8260	NAA10	OMIM:300855
HP:0011842	Abnormal skeletal morphology	8260	NAA10	ORPHA:568
HP:0011842	Abnormal skeletal morphology	9496	TBX4	ORPHA:261279
HP:0011842	Abnormal skeletal morphology	8091	HMGA2	ORPHA:94063
HP:0011842	Abnormal skeletal morphology	8091	HMGA2	ORPHA:397590
HP:0011842	Abnormal skeletal morphology	164	AP1G1	OMIM:619467
HP:0011842	Abnormal skeletal morphology	5283	PIGH	OMIM:618010
HP:0011842	Abnormal skeletal morphology	50801	KCNK4	OMIM:618381
HP:0011842	Abnormal skeletal morphology	9757	KMT2B	ORPHA:589618
HP:0011842	Abnormal skeletal morphology	4613	MYCN	ORPHA:391641
HP:0011842	Abnormal skeletal morphology	57003	CCDC47	OMIM:618268
HP:0011842	Abnormal skeletal morphology	5977	DPF2	OMIM:618027
HP:0011842	Abnormal skeletal morphology	94005	PIGS	OMIM:618143
HP:0011842	Abnormal skeletal morphology	145173	B3GLCT	OMIM:261540
HP:0011842	Abnormal skeletal morphology	145173	B3GLCT	ORPHA:709
HP:0011842	Abnormal skeletal morphology	92002	CCNQ	OMIM:300707
HP:0011842	Abnormal skeletal morphology	92002	CCNQ	ORPHA:140952
HP:0011842	Abnormal skeletal morphology	285590	SH3PXD2B	ORPHA:137834
HP:0011842	Abnormal skeletal morphology	526	ATP6V1B2	ORPHA:79500
HP:0011842	Abnormal skeletal morphology	57465	TBC1D24	ORPHA:79500
HP:0011842	Abnormal skeletal morphology	57465	TBC1D24	OMIM:220500
HP:0011842	Abnormal skeletal morphology	5728	PTEN	ORPHA:744
HP:0011842	Abnormal skeletal morphology	207	AKT1	ORPHA:744
HP:0011842	Abnormal skeletal morphology	2887	GRB10	ORPHA:96182
HP:0011842	Abnormal skeletal morphology	1457	CSNK2A1	OMIM:617062
HP:0011842	Abnormal skeletal morphology	51715	RAB23	OMIM:201000
HP:0011842	Abnormal skeletal morphology	28952	CCDC22	OMIM:300963
HP:0011842	Abnormal skeletal morphology	90416	CCDC32	OMIM:619123
HP:0011842	Abnormal skeletal morphology	8450	CUL4B	ORPHA:85293
HP:0011842	Abnormal skeletal morphology	55717	WDR11	OMIM:620237
HP:0011842	Abnormal skeletal morphology	118924	FRA10AC1	OMIM:620113
HP:0011842	Abnormal skeletal morphology	22995	CEP152	OMIM:613823
HP:0011842	Abnormal skeletal morphology	22995	CEP152	ORPHA:808
HP:0011842	Abnormal skeletal morphology	3549	IHH	OMIM:112500
HP:0011842	Abnormal skeletal morphology	3549	IHH	ORPHA:93388
HP:0011842	Abnormal skeletal morphology	3090	HIC1	ORPHA:531
HP:0011842	Abnormal skeletal morphology	10436	EMG1	OMIM:211180
HP:0011842	Abnormal skeletal morphology	10436	EMG1	ORPHA:1270
HP:0011842	Abnormal skeletal morphology	23387	SIK3	OMIM:618162
HP:0011842	Abnormal skeletal morphology	10084	PQBP1	OMIM:309500
HP:0011842	Abnormal skeletal morphology	5745	PTH1R	OMIM:156400
HP:0011842	Abnormal skeletal morphology	89970	RSPRY1	ORPHA:457395
HP:0011842	Abnormal skeletal morphology	9487	PIGL	OMIM:280000
HP:0011842	Abnormal skeletal morphology	22800	RRAS2	ORPHA:648
HP:0011842	Abnormal skeletal morphology	867	CBL	ORPHA:648
HP:0011842	Abnormal skeletal morphology	8216	LZTR1	ORPHA:648
HP:0011842	Abnormal skeletal morphology	6016	RIT1	ORPHA:648
HP:0011842	Abnormal skeletal morphology	6237	RRAS	ORPHA:648
HP:0011842	Abnormal skeletal morphology	5894	RAF1	ORPHA:648
HP:0011842	Abnormal skeletal morphology	22808	MRAS	ORPHA:648
HP:0011842	Abnormal skeletal morphology	3845	KRAS	ORPHA:648
HP:0011842	Abnormal skeletal morphology	200734	SPRED2	ORPHA:648
HP:0011842	Abnormal skeletal morphology	4893	NRAS	ORPHA:648
HP:0011842	Abnormal skeletal morphology	6654	SOS1	ORPHA:648
HP:0011842	Abnormal skeletal morphology	6655	SOS2	ORPHA:648
HP:0011842	Abnormal skeletal morphology	5781	PTPN11	ORPHA:648
HP:0011842	Abnormal skeletal morphology	5922	RASA2	ORPHA:648
HP:0011842	Abnormal skeletal morphology	23522	KAT6B	ORPHA:3047
HP:0011842	Abnormal skeletal morphology	6913	TBX15	OMIM:260660
HP:0011842	Abnormal skeletal morphology	79023	NUP37	OMIM:618179
HP:0011842	Abnormal skeletal morphology	375056	MIA3	OMIM:619269
HP:0011842	Abnormal skeletal morphology	27161	AGO2	OMIM:619149
HP:0011842	Abnormal skeletal morphology	5567	PRKACB	OMIM:619143
HP:0011842	Abnormal skeletal morphology	221927	BRAT1	OMIM:618056
HP:0011842	Abnormal skeletal morphology	8823	FGF16	OMIM:309630
HP:0011842	Abnormal skeletal morphology	5518	PPP2R1A	ORPHA:457284
HP:0011842	Abnormal skeletal morphology	161742	SPRED1	ORPHA:137605
HP:0011842	Abnormal skeletal morphology	7337	UBE3A	ORPHA:238446
HP:0011842	Abnormal skeletal morphology	1832	DSP	ORPHA:158687
HP:0011842	Abnormal skeletal morphology	1832	DSP	OMIM:609638
HP:0011842	Abnormal skeletal morphology	3728	JUP	ORPHA:158687
HP:0011842	Abnormal skeletal morphology	23241	PACS2	OMIM:618067
HP:0011842	Abnormal skeletal morphology	5885	RAD21	OMIM:614701
HP:0011842	Abnormal skeletal morphology	5885	RAD21	ORPHA:199
HP:0011842	Abnormal skeletal morphology	7518	XRCC4	ORPHA:99812
HP:0011842	Abnormal skeletal morphology	3209	HOXA13	OMIM:140000
HP:0011842	Abnormal skeletal morphology	3209	HOXA13	ORPHA:2438
HP:0011842	Abnormal skeletal morphology	8854	ALDH1A2	OMIM:620025
HP:0011842	Abnormal skeletal morphology	10274	STAG1	ORPHA:502434
HP:0011842	Abnormal skeletal morphology	9241	NOG	ORPHA:3250
HP:0011842	Abnormal skeletal morphology	9241	NOG	OMIM:186500
HP:0011842	Abnormal skeletal morphology	613	BCR	ORPHA:261330
HP:0011842	Abnormal skeletal morphology	1399	CRKL	ORPHA:261330
HP:0011842	Abnormal skeletal morphology	89910	UBE3B	OMIM:244450
HP:0011842	Abnormal skeletal morphology	2314	FLII	ORPHA:819
HP:0011842	Abnormal skeletal morphology	23096	IQSEC2	ORPHA:819
HP:0011842	Abnormal skeletal morphology	10743	RAI1	ORPHA:819
HP:0011842	Abnormal skeletal morphology	10522	DEAF1	ORPHA:819
HP:0011842	Abnormal skeletal morphology	150468	CKAP2L	ORPHA:3255
HP:0011842	Abnormal skeletal morphology	9184	BUB3	ORPHA:1052
HP:0011842	Abnormal skeletal morphology	699	BUB1	ORPHA:1052
HP:0011842	Abnormal skeletal morphology	699	BUB1	OMIM:620183
HP:0011842	Abnormal skeletal morphology	9702	CEP57	ORPHA:1052
HP:0011842	Abnormal skeletal morphology	9702	CEP57	OMIM:614114
HP:0011842	Abnormal skeletal morphology	9319	TRIP13	ORPHA:1052
HP:0011842	Abnormal skeletal morphology	701	BUB1B	ORPHA:1052
HP:0011842	Abnormal skeletal morphology	54476	RNF216	ORPHA:1173
HP:0011842	Abnormal skeletal morphology	10908	PNPLA6	ORPHA:1173
HP:0011842	Abnormal skeletal morphology	23036	ZNF292	OMIM:619188
HP:0011842	Abnormal skeletal morphology	51199	NIN	OMIM:614851
HP:0011842	Abnormal skeletal morphology	51199	NIN	ORPHA:319675
HP:0011842	Abnormal skeletal morphology	1954	MEGF8	OMIM:614976
HP:0011842	Abnormal skeletal morphology	1857	DVL3	ORPHA:3107
HP:0011842	Abnormal skeletal morphology	7474	WNT5A	ORPHA:3107
HP:0011842	Abnormal skeletal morphology	1855	DVL1	ORPHA:3107
HP:0011842	Abnormal skeletal morphology	2535	FZD2	ORPHA:3107
HP:0011842	Abnormal skeletal morphology	2535	FZD2	OMIM:164745
HP:0011842	Abnormal skeletal morphology	26053	AUTS2	OMIM:615834
HP:0011842	Abnormal skeletal morphology	2122	MECOM	ORPHA:71289
HP:0011842	Abnormal skeletal morphology	3207	HOXA11	ORPHA:71289
HP:0011842	Abnormal skeletal morphology	3207	HOXA11	OMIM:605432
HP:0011842	Abnormal skeletal morphology	81031	SLC2A10	ORPHA:3342
HP:0011842	Abnormal skeletal morphology	55165	CEP55	OMIM:236500
HP:0011842	Abnormal skeletal morphology	10236	HNRNPR	OMIM:620073
HP:0011842	Abnormal skeletal morphology	6628	SNRPB	ORPHA:1393
HP:0011842	Abnormal skeletal morphology	6628	SNRPB	OMIM:117650
HP:0011842	Abnormal skeletal morphology	1028	CDKN1C	ORPHA:397590
HP:0011842	Abnormal skeletal morphology	5324	PLAG1	ORPHA:397590
HP:0011842	Abnormal skeletal morphology	9555	MACROH2A1	ORPHA:1275
HP:0011842	Abnormal skeletal morphology	5307	PITX1	ORPHA:1275
HP:0011842	Abnormal skeletal morphology	5422	POLA1	ORPHA:163976
HP:0011842	Abnormal skeletal morphology	5422	POLA1	OMIM:301030
HP:0011842	Abnormal skeletal morphology	55906	ZC4H2	ORPHA:3454
HP:0011842	Abnormal skeletal morphology	10430	TMEM147	OMIM:620075
HP:0011842	Abnormal skeletal morphology	3187	HNRNPH1	OMIM:620083
HP:0011842	Abnormal skeletal morphology	23414	ZFPM2	OMIM:187500
HP:0011842	Abnormal skeletal morphology	23414	ZFPM2	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	1482	NKX2-5	OMIM:187500
HP:0011842	Abnormal skeletal morphology	1482	NKX2-5	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	182	JAG1	OMIM:187500
HP:0011842	Abnormal skeletal morphology	182	JAG1	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	6899	TBX1	OMIM:187500
HP:0011842	Abnormal skeletal morphology	6899	TBX1	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	2627	GATA6	OMIM:187500
HP:0011842	Abnormal skeletal morphology	2627	GATA6	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	545	ATR	ORPHA:808
HP:0011842	Abnormal skeletal morphology	545	ATR	OMIM:210600
HP:0011842	Abnormal skeletal morphology	1062	CENPE	ORPHA:808
HP:0011842	Abnormal skeletal morphology	5116	PCNT	ORPHA:808
HP:0011842	Abnormal skeletal morphology	5116	PCNT	OMIM:210720
HP:0011842	Abnormal skeletal morphology	5116	PCNT	ORPHA:2637
HP:0011842	Abnormal skeletal morphology	79902	NUP85	ORPHA:808
HP:0011842	Abnormal skeletal morphology	84126	ATRIP	ORPHA:808
HP:0011842	Abnormal skeletal morphology	55835	CENPJ	ORPHA:808
HP:0011842	Abnormal skeletal morphology	10293	TRAIP	ORPHA:808
HP:0011842	Abnormal skeletal morphology	10733	PLK4	ORPHA:808
HP:0011842	Abnormal skeletal morphology	29123	ANKRD11	OMIM:148050
HP:0011842	Abnormal skeletal morphology	9775	EIF4A3	OMIM:268305
HP:0011842	Abnormal skeletal morphology	2702	GJA5	OMIM:612474
HP:0011842	Abnormal skeletal morphology	2702	GJA5	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	2703	GJA8	OMIM:612474
HP:0011842	Abnormal skeletal morphology	4208	MEF2C	OMIM:613443
HP:0011842	Abnormal skeletal morphology	55690	PACS1	ORPHA:329224
HP:0011842	Abnormal skeletal morphology	22856	CHSY1	ORPHA:363417
HP:0011842	Abnormal skeletal morphology	51621	KLF13	OMIM:612001
HP:0011842	Abnormal skeletal morphology	5648	MASP1	OMIM:257920
HP:0011842	Abnormal skeletal morphology	11133	KPTN	OMIM:615637
HP:0011842	Abnormal skeletal morphology	11133	KPTN	ORPHA:397612
HP:0011842	Abnormal skeletal morphology	85358	SHANK3	OMIM:606232
HP:0011842	Abnormal skeletal morphology	85358	SHANK3	ORPHA:48652
HP:0011842	Abnormal skeletal morphology	137814	NKX2-6	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	3791	KDR	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	2657	GDF1	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	140628	GATA5	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	2324	FLT4	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	10370	CITED2	ORPHA:3303
HP:0011842	Abnormal skeletal morphology	2334	AFF2	ORPHA:100973
HP:0011842	Abnormal skeletal morphology	10847	SRCAP	OMIM:136140
HP:0011842	Abnormal skeletal morphology	54808	DYM	OMIM:223800
HP:0011842	Abnormal skeletal morphology	84679	SLC9A7	OMIM:301024
HP:0011842	Abnormal skeletal morphology	10735	STAG2	OMIM:301022
HP:0011842	Abnormal skeletal morphology	5925	RB1	ORPHA:1587
HP:0011842	Abnormal skeletal morphology	7874	USP7	OMIM:616863
HP:0011842	Abnormal skeletal morphology	3759	KCNJ2	OMIM:170390
HP:0011842	Abnormal skeletal morphology	81620	CDT1	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	5000	ORC4	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	23594	ORC6	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	990	CDC6	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	51053	GMNN	ORPHA:2554
HP:0011842	Abnormal skeletal morphology	25	ABL1	OMIM:617602
HP:0011842	Abnormal skeletal morphology	29980	DONSON	OMIM:617604
HP:0011842	Abnormal skeletal morphology	6638	SNRPN	ORPHA:177907
HP:0011842	Abnormal skeletal morphology	23476	BRD4	ORPHA:199
HP:0011842	Abnormal skeletal morphology	10664	CTCF	ORPHA:363611
HP:0011842	Abnormal skeletal morphology	22931	RAB18	OMIM:614222
HP:0011842	Abnormal skeletal morphology	490	ATP2B1	OMIM:619910
HP:0011842	Abnormal skeletal morphology	284252	KCTD1	OMIM:181270
HP:0011842	Abnormal skeletal morphology	54870	QRICH1	OMIM:617982
HP:0011842	Abnormal skeletal morphology	139285	AMER1	OMIM:300373
HP:0011842	Abnormal skeletal morphology	4841	NONO	ORPHA:466791
HP:0011842	Abnormal skeletal morphology	1663	DDX11	OMIM:613398
HP:0011842	Abnormal skeletal morphology	2186	BPTF	OMIM:617755
HP:0011842	Abnormal skeletal morphology	59341	TRPV4	ORPHA:2635
HP:0011842	Abnormal skeletal morphology	10225	CD96	ORPHA:1308
HP:0011842	Abnormal skeletal morphology	4848	CNOT2	OMIM:618608
HP:0011842	Abnormal skeletal morphology	64131	XYLT1	ORPHA:1425
HP:0011842	Abnormal skeletal morphology	124583	CANT1	ORPHA:1425
HP:0011842	Abnormal skeletal morphology	55790	CSGALNACT1	ORPHA:1425
HP:0011842	Abnormal skeletal morphology	4204	MECP2	OMIM:300260
HP:0011842	Abnormal skeletal morphology	55553	SOX6	OMIM:618971
HP:0011842	Abnormal skeletal morphology	84148	KAT8	OMIM:618974
HP:0011842	Abnormal skeletal morphology	58499	ZNF462	OMIM:618619
HP:0011842	Abnormal skeletal morphology	6598	SMARCB1	OMIM:614608
HP:0011842	Abnormal skeletal morphology	84068	SLC10A7	OMIM:618363
HP:0011842	Abnormal skeletal morphology	29072	SETD2	OMIM:616831
HP:0011842	Abnormal skeletal morphology	54187	NANS	OMIM:610442
HP:0011842	Abnormal skeletal morphology	9451	EIF2AK3	OMIM:226980
HP:0011842	Abnormal skeletal morphology	10568	SLC34A2	ORPHA:60025
HP:0011842	Abnormal skeletal morphology	8838	CCN6	ORPHA:1159
HP:0011842	Abnormal skeletal morphology	4148	MATN3	ORPHA:93311
HP:0011842	Abnormal skeletal morphology	3480	IGF1R	ORPHA:73273
HP:0011842	Abnormal skeletal morphology	4921	DDR2	OMIM:271665
HP:0011842	Abnormal skeletal morphology	124997	WDR81	OMIM:610185
HP:0011842	Abnormal skeletal morphology	79639	TMEM53	OMIM:619727
HP:0011842	Abnormal skeletal morphology	25782	RAB3GAP2	OMIM:212720
HP:0011842	Abnormal skeletal morphology	1778	DYNC1H1	OMIM:614563
HP:0011842	Abnormal skeletal morphology	80311	KLHL15	OMIM:300982
HP:0011842	Abnormal skeletal morphology	55012	PPP2R3C	OMIM:618419
HP:0011842	Abnormal skeletal morphology	6905	TBCE	OMIM:241410
HP:0011842	Abnormal skeletal morphology	6905	TBCE	OMIM:244460
HP:0011842	Abnormal skeletal morphology	10013	HDAC6	ORPHA:163966
HP:0011842	Abnormal skeletal morphology	9719	ADAMTSL2	OMIM:231050
HP:0011842	Abnormal skeletal morphology	79718	TBL1XR1	OMIM:602342
HP:0011842	Abnormal skeletal morphology	1298	COL9A2	OMIM:600204
HP:0011842	Abnormal skeletal morphology	28957	MRPS28	OMIM:618958
HP:0011842	Abnormal skeletal morphology	23261	CAMTA1	OMIM:614756
HP:0011842	Abnormal skeletal morphology	25839	COG4	ORPHA:85172
HP:0011842	Abnormal skeletal morphology	8813	DPM1	OMIM:608799
HP:0011842	Abnormal skeletal morphology	147372	CCBE1	OMIM:235510
HP:0011842	Abnormal skeletal morphology	579	NKX3-2	OMIM:613330
HP:0011842	Abnormal skeletal morphology	5934	RBL2	OMIM:619690
HP:0011842	Abnormal skeletal morphology	1436	CSF1R	OMIM:618476
HP:0011842	Abnormal skeletal morphology	28962	OSTM1	ORPHA:85179
HP:0011842	Abnormal skeletal morphology	10484	SEC23A	ORPHA:50814
HP:0011842	Abnormal skeletal morphology	79796	ALG9	OMIM:263210
HP:0011842	Abnormal skeletal morphology	4352	MPL	ORPHA:3319
HP:0011842	Abnormal skeletal morphology	7066	THPO	ORPHA:3319
HP:0011842	Abnormal skeletal morphology	84168	ANTXR1	ORPHA:2067
HP:0011842	Abnormal skeletal morphology	60386	SLC25A19	ORPHA:99742
HP:0011842	Abnormal skeletal morphology	168667	BMPER	OMIM:608022
HP:0011842	Abnormal skeletal morphology	84172	POLR1B	ORPHA:861
HP:0011842	Abnormal skeletal morphology	9533	POLR1C	ORPHA:861
HP:0011842	Abnormal skeletal morphology	51082	POLR1D	ORPHA:861
HP:0011842	Abnormal skeletal morphology	6949	TCOF1	ORPHA:861
HP:0011842	Abnormal skeletal morphology	26146	TRAF3IP1	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	9657	IQCB1	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	27130	INVS	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	261734	NPHP4	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	27031	NPHP3	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	22897	CEP164	ORPHA:3156
HP:0011842	Abnormal skeletal morphology	79879	CCDC134	OMIM:619795
HP:0011842	Abnormal skeletal morphology	5034	P4HB	OMIM:112240
HP:0011842	Abnormal skeletal morphology	55325	UFSP2	OMIM:617974
HP:0011842	Abnormal skeletal morphology	7305	TYROBP	ORPHA:2770
HP:0011842	Abnormal skeletal morphology	54209	TREM2	ORPHA:2770
HP:0011842	Abnormal skeletal morphology	10056	FARSB	OMIM:613658
HP:0011842	Abnormal skeletal morphology	29887	SNX10	ORPHA:667
HP:0011842	Abnormal skeletal morphology	3043	HBB	ORPHA:231222
HP:0011842	Abnormal skeletal morphology	1528	CYB5A	ORPHA:90796
HP:0011842	Abnormal skeletal morphology	1586	CYP17A1	ORPHA:90796
HP:0011842	Abnormal skeletal morphology	7486	WRN	OMIM:277700
HP:0011842	Abnormal skeletal morphology	4773	NFATC2	OMIM:620232
HP:0011842	Abnormal skeletal morphology	2592	GALT	ORPHA:79239
HP:0011842	Abnormal skeletal morphology	4221	MEN1	ORPHA:652
HP:0011842	Abnormal skeletal morphology	1027	CDKN1B	ORPHA:652
HP:0011842	Abnormal skeletal morphology	1026	CDKN1A	ORPHA:652
HP:0011842	Abnormal skeletal morphology	1030	CDKN2B	ORPHA:652
HP:0011842	Abnormal skeletal morphology	1031	CDKN2C	ORPHA:652
HP:0011842	Abnormal skeletal morphology	4693	NDP	ORPHA:891
HP:0011842	Abnormal skeletal morphology	23554	TSPAN12	ORPHA:891
HP:0011842	Abnormal skeletal morphology	79797	ZNF408	ORPHA:891
HP:0011842	Abnormal skeletal morphology	8322	FZD4	ORPHA:891
HP:0011842	Abnormal skeletal morphology	55898	UNC45A	OMIM:619377
HP:0011842	Abnormal skeletal morphology	6569	SLC34A1	ORPHA:157215
HP:0011842	Abnormal skeletal morphology	1583	CYP11A1	ORPHA:168558
HP:0011842	Abnormal skeletal morphology	1583	CYP11A1	ORPHA:289548
HP:0011842	Abnormal skeletal morphology	6678	SPARC	OMIM:616507
HP:0011842	Abnormal skeletal morphology	51608	GET4	OMIM:620200
HP:0011842	Abnormal skeletal morphology	2717	GLA	ORPHA:324
HP:0011842	Abnormal skeletal morphology	8883	NAE1	OMIM:620210
HP:0011842	Abnormal skeletal morphology	10371	SEMA3A	ORPHA:478
HP:0011842	Abnormal skeletal morphology	81848	SPRY4	ORPHA:478
HP:0011842	Abnormal skeletal morphology	23767	FLRT3	ORPHA:478
HP:0011842	Abnormal skeletal morphology	128674	PROKR2	ORPHA:478
HP:0011842	Abnormal skeletal morphology	79625	NDNF	ORPHA:478
HP:0011842	Abnormal skeletal morphology	2253	FGF8	ORPHA:478
HP:0011842	Abnormal skeletal morphology	389549	FEZF1	ORPHA:478
HP:0011842	Abnormal skeletal morphology	1630	DCC	ORPHA:478
HP:0011842	Abnormal skeletal morphology	3730	ANOS1	ORPHA:478
HP:0011842	Abnormal skeletal morphology	54756	IL17RD	ORPHA:478
HP:0011842	Abnormal skeletal morphology	6663	SOX10	ORPHA:478
HP:0011842	Abnormal skeletal morphology	285025	CCDC141	ORPHA:478
HP:0011842	Abnormal skeletal morphology	60675	PROK2	ORPHA:478
HP:0011842	Abnormal skeletal morphology	1848	DUSP6	ORPHA:478
HP:0011842	Abnormal skeletal morphology	6870	TACR3	ORPHA:478
HP:0011842	Abnormal skeletal morphology	9394	HS6ST1	ORPHA:478
HP:0011842	Abnormal skeletal morphology	8822	FGF17	ORPHA:478
HP:0011842	Abnormal skeletal morphology	3192	HNRNPU	ORPHA:238769
HP:0011842	Abnormal skeletal morphology	85378	TUBGCP6	ORPHA:2518
HP:0011842	Abnormal skeletal morphology	27229	TUBGCP4	ORPHA:2518
HP:0011842	Abnormal skeletal morphology	57192	MCOLN1	ORPHA:578
HP:0011842	Abnormal skeletal morphology	57187	THOC2	ORPHA:457240
HP:0011842	Abnormal skeletal morphology	7840	ALMS1	ORPHA:64
HP:0011842	Abnormal skeletal morphology	7840	ALMS1	OMIM:203800
HP:0011842	Abnormal skeletal morphology	169792	GLIS3	OMIM:610199
HP:0011842	Abnormal skeletal morphology	5828	PEX2	OMIM:614866
HP:0011842	Abnormal skeletal morphology	4724	NDUFS4	OMIM:252010
HP:0011842	Abnormal skeletal morphology	2670	GFAP	OMIM:203450
HP:0011842	Abnormal skeletal morphology	2670	GFAP	ORPHA:363717
HP:0011842	Abnormal skeletal morphology	1718	DHCR24	OMIM:602398
HP:0011842	Abnormal skeletal morphology	2271	FH	OMIM:606812
HP:0011842	Abnormal skeletal morphology	5426	POLE	OMIM:615139
HP:0011842	Abnormal skeletal morphology	5426	POLE	OMIM:618336
HP:0011842	Abnormal skeletal morphology	55331	ACER3	OMIM:617762
HP:0011842	Abnormal skeletal morphology	1967	EIF2B1	OMIM:603896
HP:0011842	Abnormal skeletal morphology	57194	ATP10A	ORPHA:411515
HP:0011842	Abnormal skeletal morphology	4618	MYF6	ORPHA:169189
HP:0011842	Abnormal skeletal morphology	84701	COX4I2	OMIM:612714
HP:0011842	Abnormal skeletal morphology	7849	PAX8	OMIM:218700
HP:0011842	Abnormal skeletal morphology	405753	DUOXA2	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	6528	SLC5A5	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	7038	TG	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	7173	TPO	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	389434	IYD	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	50506	DUOX2	ORPHA:95716
HP:0011842	Abnormal skeletal morphology	55670	PEX26	OMIM:614872
HP:0011842	Abnormal skeletal morphology	7253	TSHR	ORPHA:90673
HP:0011842	Abnormal skeletal morphology	183	AGT	OMIM:267430
HP:0011842	Abnormal skeletal morphology	5972	REN	OMIM:267430
HP:0011842	Abnormal skeletal morphology	185	AGTR1	OMIM:267430
HP:0011842	Abnormal skeletal morphology	1636	ACE	OMIM:267430
HP:0011842	Abnormal skeletal morphology	5189	PEX1	OMIM:214100
HP:0011842	Abnormal skeletal morphology	7507	XPA	ORPHA:910
HP:0011842	Abnormal skeletal morphology	7508	XPC	ORPHA:910
HP:0011842	Abnormal skeletal morphology	1643	DDB2	ORPHA:910
HP:0011842	Abnormal skeletal morphology	4509	MT-ATP8	ORPHA:480
HP:0011842	Abnormal skeletal morphology	4567	MT-TL1	ORPHA:480
HP:0011842	Abnormal skeletal morphology	124590	USH1G	OMIM:606943
HP:0011842	Abnormal skeletal morphology	5898	RALA	OMIM:619311
HP:0011842	Abnormal skeletal morphology	4683	NBN	OMIM:251260
HP:0011842	Abnormal skeletal morphology	10087	CERT1	OMIM:616351
HP:0011842	Abnormal skeletal morphology	10907	TXNL4A	OMIM:608572
HP:0011842	Abnormal skeletal morphology	57570	TRMT5	OMIM:616539
HP:0011842	Abnormal skeletal morphology	745	MYRF	OMIM:618280
HP:0011842	Abnormal skeletal morphology	26281	FGF20	ORPHA:1848
HP:0011842	Abnormal skeletal morphology	2674	GFRA1	ORPHA:1848
HP:0011842	Abnormal skeletal morphology	7484	WNT9B	ORPHA:1848
HP:0011842	Abnormal skeletal morphology	80000	GREB1L	ORPHA:1848
HP:0011842	Abnormal skeletal morphology	10342	TFG	ORPHA:431329
HP:0011842	Abnormal skeletal morphology	5582	PRKCG	ORPHA:98763
HP:0011842	Abnormal skeletal morphology	23204	ARL6IP1	ORPHA:401780
HP:0011842	Abnormal skeletal morphology	2165	F13B	ORPHA:331
HP:0011842	Abnormal skeletal morphology	2162	F13A1	ORPHA:331
HP:0011842	Abnormal skeletal morphology	2162	F13A1	OMIM:613225
HP:0011842	Abnormal skeletal morphology	2159	F10	OMIM:227600
HP:0011842	Abnormal skeletal morphology	2159	F10	ORPHA:328
HP:0011842	Abnormal skeletal morphology	5345	SERPINF2	OMIM:262850
HP:0011842	Abnormal skeletal morphology	5345	SERPINF2	ORPHA:79
HP:0011842	Abnormal skeletal morphology	7450	VWF	OMIM:193400
HP:0011842	Abnormal skeletal morphology	7450	VWF	OMIM:277480
HP:0011842	Abnormal skeletal morphology	2155	F7	OMIM:227500
HP:0011842	Abnormal skeletal morphology	2155	F7	ORPHA:327
HP:0011842	Abnormal skeletal morphology	2147	F2	OMIM:613679
HP:0011842	Abnormal skeletal morphology	2147	F2	ORPHA:325
HP:0011842	Abnormal skeletal morphology	2160	F11	ORPHA:329
HP:0011842	Abnormal skeletal morphology	2153	F5	ORPHA:326
HP:0011842	Abnormal skeletal morphology	5054	SERPINE1	ORPHA:465
HP:0011842	Abnormal skeletal morphology	3998	LMAN1	ORPHA:35909
HP:0011842	Abnormal skeletal morphology	90411	MCFD2	ORPHA:35909
HP:0011842	Abnormal skeletal morphology	5328	PLAU	OMIM:601709
HP:0011842	Abnormal skeletal morphology	7280	TUBB2A	OMIM:615763
HP:0011842	Abnormal skeletal morphology	124512	METTL23	OMIM:615942
HP:0011842	Abnormal skeletal morphology	83700	JAM3	OMIM:613730
HP:0011842	Abnormal skeletal morphology	53616	ADAM22	OMIM:617933
HP:0011842	Abnormal skeletal morphology	6571	SLC18A2	ORPHA:352649
HP:0011842	Abnormal skeletal morphology	55610	VPS50	OMIM:619685
HP:0011842	Abnormal skeletal morphology	271	AMPD2	OMIM:615809
HP:0011842	Abnormal skeletal morphology	22796	COG2	OMIM:617395
HP:0011842	Abnormal skeletal morphology	22796	COG2	ORPHA:435934
HP:0011842	Abnormal skeletal morphology	9512	PMPCB	OMIM:617954
HP:0011842	Abnormal skeletal morphology	54675	CRLS1	OMIM:620167
HP:0011842	Abnormal skeletal morphology	22884	WDR37	OMIM:618652
HP:0011842	Abnormal skeletal morphology	57468	SLC12A5	OMIM:616645
HP:0011842	Abnormal skeletal morphology	56947	MFF	ORPHA:485421
HP:0011842	Abnormal skeletal morphology	56947	MFF	OMIM:617086
HP:0011842	Abnormal skeletal morphology	539	ATP5PO	OMIM:620359
HP:0011842	Abnormal skeletal morphology	9440	MED17	OMIM:613668
HP:0011842	Abnormal skeletal morphology	125988	MICOS13	OMIM:618329
HP:0011842	Abnormal skeletal morphology	1719	DHFR	OMIM:613839
HP:0011842	Abnormal skeletal morphology	51693	TRAPPC2L	OMIM:618331
HP:0011842	Abnormal skeletal morphology	57017	COQ9	OMIM:614654
HP:0011842	Abnormal skeletal morphology	27429	HTRA2	OMIM:617248
HP:0011842	Abnormal skeletal morphology	79776	ZFHX4	ORPHA:91411
HP:0011842	Abnormal skeletal morphology	65055	REEP1	OMIM:620011
HP:0011842	Abnormal skeletal morphology	55628	ZNF407	OMIM:619557
HP:0011842	Abnormal skeletal morphology	84265	POLR3GL	OMIM:619234
HP:0011842	Abnormal skeletal morphology	2629	GBA1	ORPHA:2072
HP:0011842	Abnormal skeletal morphology	4125	MAN2B1	OMIM:248500
HP:0011842	Abnormal skeletal morphology	2990	GUSB	OMIM:253220
HP:0011842	Abnormal skeletal morphology	2720	GLB1	OMIM:230600
HP:0011842	Abnormal skeletal morphology	3170	FOXA2	ORPHA:95494
HP:0011842	Abnormal skeletal morphology	6658	SOX3	ORPHA:90695
HP:0011842	Abnormal skeletal morphology	4222	MEOX1	ORPHA:2345
HP:0011842	Abnormal skeletal morphology	80199	FUZ	ORPHA:3027
HP:0011842	Abnormal skeletal morphology	1327	COX4I1	OMIM:619060
HP:0011842	Abnormal skeletal morphology	3081	HGD	ORPHA:56
HP:0011842	Abnormal skeletal morphology	4907	NT5E	OMIM:211800
HP:0011842	Abnormal skeletal morphology	1297	COL9A1	OMIM:614135
HP:0011842	Abnormal skeletal morphology	1147	CHUK	OMIM:619339
HP:0011842	Abnormal skeletal morphology	6522	SLC4A2	OMIM:620366
HP:0011842	Abnormal skeletal morphology	83932	SPRTN	OMIM:616200
HP:0011842	Abnormal skeletal morphology	83737	ITCH	OMIM:613385
HP:0011842	Abnormal skeletal morphology	1674	DES	ORPHA:98909
HP:0011842	Abnormal skeletal morphology	6329	SCN4A	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	1134	CHRNA1	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	1305	COL13A1	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	1140	CHRNB1	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	1144	CHRND	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	1145	CHRNE	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	4593	MUSK	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	5913	RAPSN	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	375790	AGRN	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	221264	AK9	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	285489	DOK7	ORPHA:98913
HP:0011842	Abnormal skeletal morphology	64802	NMNAT1	OMIM:619260
HP:0011842	Abnormal skeletal morphology	3798	KIF5A	ORPHA:100991
HP:0011842	Abnormal skeletal morphology	64421	DCLRE1C	ORPHA:275
HP:0011842	Abnormal skeletal morphology	144811	LACC1	ORPHA:85414
HP:0011842	Abnormal skeletal morphology	4282	MIF	ORPHA:85414
HP:0011842	Abnormal skeletal morphology	3569	IL6	ORPHA:85414
HP:0011842	Abnormal skeletal morphology	4626	MYH8	OMIM:158300
HP:0011842	Abnormal skeletal morphology	4626	MYH8	OMIM:608837
HP:0011842	Abnormal skeletal morphology	342035	GLDN	OMIM:617194
HP:0011842	Abnormal skeletal morphology	34	ACADM	ORPHA:42
HP:0011842	Abnormal skeletal morphology	112	ADCY6	OMIM:616287
HP:0011842	Abnormal skeletal morphology	8506	CNTNAP1	OMIM:616286
HP:0011842	Abnormal skeletal morphology	4897	NRCAM	OMIM:619833
HP:0011842	Abnormal skeletal morphology	9289	ADGRG1	ORPHA:98889
HP:0011842	Abnormal skeletal morphology	5297	PI4KA	ORPHA:98889
HP:0011842	Abnormal skeletal morphology	27286	SRPX2	ORPHA:98889
HP:0011842	Abnormal skeletal morphology	4649	MYO9A	OMIM:618198
HP:0011842	Abnormal skeletal morphology	163175	LGI4	OMIM:617468
HP:0011842	Abnormal skeletal morphology	3418	IDH2	ORPHA:163634
HP:0011842	Abnormal skeletal morphology	3418	IDH2	ORPHA:296
HP:0011842	Abnormal skeletal morphology	81607	NECTIN4	OMIM:613573
HP:0011842	Abnormal skeletal morphology	10079	ATP9A	OMIM:620242
HP:0011842	Abnormal skeletal morphology	26277	TINF2	OMIM:613990
HP:0011842	Abnormal skeletal morphology	9652	SKIC3	OMIM:222470
HP:0011842	Abnormal skeletal morphology	2521	FUS	ORPHA:300605
HP:0011842	Abnormal skeletal morphology	10280	SIGMAR1	ORPHA:300605
HP:0011842	Abnormal skeletal morphology	10558	SPTLC1	ORPHA:300605
HP:0011842	Abnormal skeletal morphology	80232	WDR26	ORPHA:513456
HP:0011842	Abnormal skeletal morphology	3767	KCNJ11	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	6774	STAT3	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	2645	GCK	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	3651	PDX1	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	6833	ABCC8	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	3630	INS	ORPHA:99885
HP:0011842	Abnormal skeletal morphology	22943	DKK1	ORPHA:268882
HP:0011842	Abnormal skeletal morphology	4210	MEFV	OMIM:134610
HP:0011842	Abnormal skeletal morphology	7128	TNFAIP3	OMIM:616744
HP:0011842	Abnormal skeletal morphology	7132	TNFRSF1A	OMIM:142680
HP:0011842	Abnormal skeletal morphology	26525	IL36RN	OMIM:614204
HP:0011842	Abnormal skeletal morphology	6583	SLC22A4	OMIM:180300
HP:0011842	Abnormal skeletal morphology	4261	CIITA	OMIM:180300
HP:0011842	Abnormal skeletal morphology	51744	CD244	OMIM:180300
HP:0011842	Abnormal skeletal morphology	4795	NFKBIL1	OMIM:180300
HP:0011842	Abnormal skeletal morphology	3586	IL10	OMIM:180300
HP:0011842	Abnormal skeletal morphology	246329	STAC3	OMIM:255995
HP:0011842	Abnormal skeletal morphology	8818	DPM2	ORPHA:329178
HP:0011842	Abnormal skeletal morphology	8540	AGPS	OMIM:600121
HP:0011842	Abnormal skeletal morphology	51305	KCNK9	ORPHA:166108
HP:0011842	Abnormal skeletal morphology	9365	KL	OMIM:617994
HP:0011842	Abnormal skeletal morphology	54681	P4HTM	OMIM:618493
HP:0011842	Abnormal skeletal morphology	22861	NLRP1	OMIM:615225
HP:0011842	Abnormal skeletal morphology	10586	MAB21L2	OMIM:615877
HP:0011842	Abnormal skeletal morphology	341640	FREM2	ORPHA:2052
HP:0011842	Abnormal skeletal morphology	80144	FRAS1	ORPHA:2052
HP:0011842	Abnormal skeletal morphology	23426	GRIP1	ORPHA:2052
HP:0011842	Abnormal skeletal morphology	9790	BMS1	ORPHA:1114
HP:0011842	Abnormal skeletal morphology	5339	PLEC	ORPHA:1114
HP:0011842	Abnormal skeletal morphology	3691	ITGB4	ORPHA:1114
HP:0011842	Abnormal skeletal morphology	5818	NECTIN1	ORPHA:3253
HP:0011842	Abnormal skeletal morphology	324	APC	ORPHA:3258
HP:0011842	Abnormal skeletal morphology	1500	CTNND1	ORPHA:1997
HP:0011842	Abnormal skeletal morphology	999	CDH1	ORPHA:1997
HP:0011842	Abnormal skeletal morphology	134701	RIPPLY2	ORPHA:2311
HP:0011842	Abnormal skeletal morphology	10683	DLL3	ORPHA:2311
HP:0011842	Abnormal skeletal morphology	84667	HES7	ORPHA:2311
HP:0011842	Abnormal skeletal morphology	145873	MESP2	ORPHA:2311
HP:0011842	Abnormal skeletal morphology	1501	CTNND2	ORPHA:281
HP:0011842	Abnormal skeletal morphology	9037	SEMA5A	ORPHA:281
HP:0011842	Abnormal skeletal morphology	9508	ADAMTS3	ORPHA:2136
HP:0011842	Abnormal skeletal morphology	8517	IKBKG	ORPHA:464
HP:0011842	Abnormal skeletal morphology	2767	GNA11	ORPHA:1556
HP:0011842	Abnormal skeletal morphology	151188	ARL6IP6	ORPHA:1556
HP:0011842	Abnormal skeletal morphology	29968	PSAT1	OMIM:616038
HP:0011842	Abnormal skeletal morphology	64135	IFIH1	OMIM:182250
HP:0011842	Abnormal skeletal morphology	93210	PGAP3	ORPHA:247262
HP:0011842	Abnormal skeletal morphology	93210	PGAP3	OMIM:615716
HP:0011842	Abnormal skeletal morphology	284098	PIGW	ORPHA:247262
HP:0011842	Abnormal skeletal morphology	27315	PGAP2	ORPHA:247262
HP:0011842	Abnormal skeletal morphology	27315	PGAP2	OMIM:614207
HP:0011842	Abnormal skeletal morphology	26278	SACS	OMIM:270550
HP:0011842	Abnormal skeletal morphology	7466	WFS1	OMIM:222300
HP:0011842	Abnormal skeletal morphology	54829	ASPN	OMIM:607850
HP:0011842	Abnormal skeletal morphology	6597	SMARCA4	OMIM:614609
HP:0011842	Abnormal skeletal morphology	23321	TRIM2	OMIM:615490
HP:0011842	Abnormal skeletal morphology	10613	ERLIN1	ORPHA:401785
HP:0011842	Abnormal skeletal morphology	2318	FLNC	ORPHA:63273
HP:0011842	Abnormal skeletal morphology	2184	FAH	ORPHA:882
HP:0011842	Abnormal skeletal morphology	55958	KLHL9	ORPHA:399081
HP:0011842	Abnormal skeletal morphology	83636	C19orf12	OMIM:615043
HP:0011842	Abnormal skeletal morphology	210	ALAD	ORPHA:100924
HP:0011842	Abnormal skeletal morphology	513	ATP5F1D	OMIM:618120
HP:0011842	Abnormal skeletal morphology	497661	C18orf32	OMIM:619985
HP:0011842	Abnormal skeletal morphology	7407	VARS1	OMIM:617802
HP:0011842	Abnormal skeletal morphology	10861	SLC26A1	OMIM:620372
HP:0011842	Abnormal skeletal morphology	8148	TAF15	OMIM:612237
HP:0011842	Abnormal skeletal morphology	8013	NR4A3	OMIM:612237
HP:0011842	Abnormal skeletal morphology	29954	POMT2	OMIM:236670
HP:0011842	Abnormal skeletal morphology	9215	LARGE1	OMIM:236670
HP:0011842	Abnormal skeletal morphology	79147	FKRP	OMIM:236670
HP:0011842	Abnormal skeletal morphology	10585	POMT1	OMIM:236670
HP:0011842	Abnormal skeletal morphology	2218	FKTN	OMIM:236670
HP:0011842	Abnormal skeletal morphology	2073	ERCC5	OMIM:616570
HP:0011842	Abnormal skeletal morphology	30813	VSX1	OMIM:614195
HP:0011842	Abnormal skeletal morphology	23007	PLCH1	OMIM:619895
HP:0011842	Abnormal skeletal morphology	18	ABAT	OMIM:613163
HP:0011842	Abnormal skeletal morphology	727676	SNORD118	ORPHA:542310
HP:0011842	Abnormal skeletal morphology	1801	DPH1	ORPHA:459061
HP:0011842	Abnormal skeletal morphology	81839	VANGL1	OMIM:600145
HP:0011842	Abnormal skeletal morphology	3110	MNX1	OMIM:176450
HP:0011842	Abnormal skeletal morphology	3032	HADHB	ORPHA:746
HP:0011842	Abnormal skeletal morphology	3030	HADHA	ORPHA:746
HP:0011842	Abnormal skeletal morphology	23259	DDHD2	ORPHA:320380
HP:0011842	Abnormal skeletal morphology	57477	SHROOM4	ORPHA:85288
HP:0011842	Abnormal skeletal morphology	8218	CLTCL1	ORPHA:453510
HP:0011842	Abnormal skeletal morphology	3459	IFNGR1	OMIM:209950
HP:0011842	Abnormal skeletal morphology	10717	AP4B1	ORPHA:280763
HP:0011842	Abnormal skeletal morphology	10717	AP4B1	OMIM:614066
HP:0011842	Abnormal skeletal morphology	11154	AP4S1	ORPHA:280763
HP:0011842	Abnormal skeletal morphology	23431	AP4E1	ORPHA:280763
HP:0011842	Abnormal skeletal morphology	29928	TIMM22	OMIM:618851
HP:0011842	Abnormal skeletal morphology	25885	POLR1A	OMIM:616462
HP:0011842	Abnormal skeletal morphology	23443	SLC35A3	OMIM:615553
HP:0011842	Abnormal skeletal morphology	84700	MYO18B	OMIM:616549
HP:0011842	Abnormal skeletal morphology	8546	AP3B1	OMIM:608233
HP:0011842	Abnormal skeletal morphology	2487	FRZB	OMIM:165720
HP:0011842	Abnormal skeletal morphology	55315	SLC29A3	OMIM:602782
HP:0011842	Abnormal skeletal morphology	10765	KDM5B	OMIM:618109
HP:0011842	Abnormal skeletal morphology	10093	ARPC4	OMIM:620141
HP:0011842	Abnormal skeletal morphology	242	ALOX12B	OMIM:242100
HP:0011842	Abnormal skeletal morphology	59344	ALOXE3	OMIM:242100
HP:0011842	Abnormal skeletal morphology	26229	B3GAT3	OMIM:245600
HP:0011842	Abnormal skeletal morphology	2335	FN1	ORPHA:93315
HP:0011842	Abnormal skeletal morphology	51412	ACTL6B	OMIM:618470
HP:0011842	Abnormal skeletal morphology	55784	MCTP2	ORPHA:1596
HP:0011842	Abnormal skeletal morphology	10651	MTX2	ORPHA:90153
HP:0011842	Abnormal skeletal morphology	10269	ZMPSTE24	ORPHA:90154
HP:0011842	Abnormal skeletal morphology	24140	FTSJ1	OMIM:309549
HP:0011842	Abnormal skeletal morphology	2475	MTOR	OMIM:616638
HP:0011842	Abnormal skeletal morphology	54	ACP5	ORPHA:1855
HP:0011842	Abnormal skeletal morphology	1300	COL10A1	OMIM:156500
HP:0011842	Abnormal skeletal morphology	5281	PIGF	OMIM:619356
HP:0011842	Abnormal skeletal morphology	2677	GGCX	OMIM:277450
HP:0011842	Abnormal skeletal morphology	415	ARSL	ORPHA:79345
HP:0011842	Abnormal skeletal morphology	415	ARSL	OMIM:302950
HP:0011842	Abnormal skeletal morphology	26137	ZBTB20	OMIM:259050
HP:0011842	Abnormal skeletal morphology	60401	EDA2R	ORPHA:181
HP:0011842	Abnormal skeletal morphology	1896	EDA	ORPHA:181
HP:0011842	Abnormal skeletal morphology	4256	MGP	ORPHA:85202
HP:0011842	Abnormal skeletal morphology	4256	MGP	OMIM:245150
HP:0011842	Abnormal skeletal morphology	1186	CLCN7	ORPHA:53
HP:0011842	Abnormal skeletal morphology	6664	SOX11	OMIM:615866
HP:0011842	Abnormal skeletal morphology	865	CBFB	OMIM:620099
HP:0011842	Abnormal skeletal morphology	6711	SPTBN1	OMIM:619475
HP:0011842	Abnormal skeletal morphology	1906	EDN1	ORPHA:137888
HP:0011842	Abnormal skeletal morphology	2773	GNAI3	ORPHA:137888
HP:0011842	Abnormal skeletal morphology	63932	STEEP1	OMIM:301013
HP:0011842	Abnormal skeletal morphology	9653	HS2ST1	OMIM:619194
HP:0011842	Abnormal skeletal morphology	9573	GDF3	OMIM:613703
HP:0011842	Abnormal skeletal morphology	5396	PRRX1	OMIM:202650
HP:0011842	Abnormal skeletal morphology	5396	PRRX1	ORPHA:990
HP:0011842	Abnormal skeletal morphology	5015	OTX2	ORPHA:990
HP:0011842	Abnormal skeletal morphology	54539	NDUFB11	ORPHA:2556
HP:0011842	Abnormal skeletal morphology	1349	COX7B	ORPHA:2556
HP:0011842	Abnormal skeletal morphology	3052	HCCS	ORPHA:2556
HP:0011842	Abnormal skeletal morphology	71	ACTG1	ORPHA:2995
HP:0011842	Abnormal skeletal morphology	6135	RPL11	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6138	RPL15	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6229	RPS24	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6125	RPL5	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6204	RPS10	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6224	RPS20	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6165	RPL35A	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6223	RPS19	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6223	RPS19	OMIM:105650
HP:0011842	Abnormal skeletal morphology	6232	RPS27	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6231	RPS26	ORPHA:124
HP:0011842	Abnormal skeletal morphology	11224	RPL35	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6160	RPL31	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6218	RPS17	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6201	RPS7	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6155	RPL27	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6210	RPS15A	ORPHA:124
HP:0011842	Abnormal skeletal morphology	90121	TSR2	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6141	RPL18	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6235	RPS29	ORPHA:124
HP:0011842	Abnormal skeletal morphology	6234	RPS28	ORPHA:124
HP:0011842	Abnormal skeletal morphology	51816	ADA2	ORPHA:124
HP:0011842	Abnormal skeletal morphology	10992	SF3B2	OMIM:164210
HP:0011842	Abnormal skeletal morphology	27152	INTU	OMIM:617926
HP:0011842	Abnormal skeletal morphology	57020	VPS35L	OMIM:619135
HP:0011842	Abnormal skeletal morphology	6662	SOX9	OMIM:114290
HP:0011842	Abnormal skeletal morphology	3911	LAMA5	OMIM:620076
HP:0011842	Abnormal skeletal morphology	6736	SRY	ORPHA:1772
HP:0011842	Abnormal skeletal morphology	26224	FBXL3	OMIM:606220
HP:0011842	Abnormal skeletal morphology	55612	FERMT1	ORPHA:2908
HP:0011842	Abnormal skeletal morphology	5593	PRKG2	OMIM:619636
HP:0011842	Abnormal skeletal morphology	4810	NHS	ORPHA:627
HP:0011842	Abnormal skeletal morphology	1299	COL9A3	OMIM:600969
HP:0011842	Abnormal skeletal morphology	55252	ASXL2	OMIM:617190
HP:0011842	Abnormal skeletal morphology	5264	PHYH	ORPHA:773
HP:0011842	Abnormal skeletal morphology	5191	PEX7	ORPHA:773
HP:0011842	Abnormal skeletal morphology	1788	DNMT3A	OMIM:618724
HP:0011842	Abnormal skeletal morphology	83452	RAB33B	OMIM:615222
HP:0011842	Abnormal skeletal morphology	90417	KNSTRN	OMIM:613328
HP:0011842	Abnormal skeletal morphology	5293	PIK3CD	OMIM:613328
HP:0011842	Abnormal skeletal morphology	64682	ANAPC1	ORPHA:221008
HP:0011842	Abnormal skeletal morphology	3590	IL11RA	OMIM:614188
HP:0011842	Abnormal skeletal morphology	10059	DNM1L	OMIM:614388
HP:0011842	Abnormal skeletal morphology	4329	ALDH6A1	OMIM:614105
HP:0011842	Abnormal skeletal morphology	84720	PIGO	OMIM:614749
HP:0011842	Abnormal skeletal morphology	8085	KMT2D	OMIM:620186
HP:0011842	Abnormal skeletal morphology	7319	UBE2A	OMIM:300860
HP:0011842	Abnormal skeletal morphology	4212	MEIS2	OMIM:600987
HP:0011842	Abnormal skeletal morphology	6878	TAF6	OMIM:617126
HP:0011842	Abnormal skeletal morphology	285362	SUMF1	ORPHA:585
HP:0011842	Abnormal skeletal morphology	3764	KCNJ8	ORPHA:1517
HP:0011842	Abnormal skeletal morphology	60	ACTB	OMIM:243310
HP:0011842	Abnormal skeletal morphology	10060	ABCC9	OMIM:239850
HP:0011842	Abnormal skeletal morphology	10716	TBR1	ORPHA:1617
HP:0011842	Abnormal skeletal morphology	3736	KCNA1	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	2775	GNAO1	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	81603	TRIM8	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	2902	GRIN1	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	79751	SLC25A22	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	150094	SIK1	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	8573	CASK	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	23312	DMXL2	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	2917	GRM7	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	11284	PNKP	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	51227	PIGP	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	4761	NEUROD2	ORPHA:1934
HP:0011842	Abnormal skeletal morphology	23498	HAAO	OMIM:617660
HP:0011842	Abnormal skeletal morphology	6347	CCL2	OMIM:182940
HP:0011842	Abnormal skeletal morphology	6862	TBXT	OMIM:182940
HP:0011842	Abnormal skeletal morphology	6862	TBXT	OMIM:615709
HP:0011842	Abnormal skeletal morphology	3643	INSR	ORPHA:769
HP:0011842	Abnormal skeletal morphology	7373	COL14A1	ORPHA:79501
HP:0011842	Abnormal skeletal morphology	79719	AAGAB	ORPHA:79501
HP:0011842	Abnormal skeletal morphology	7068	THRB	OMIM:274300
HP:0011842	Abnormal skeletal morphology	7249	TSC2	OMIM:613254
HP:0011842	Abnormal skeletal morphology	3458	IFNG	OMIM:613254
HP:0011842	Abnormal skeletal morphology	7248	TSC1	OMIM:191100
HP:0011842	Abnormal skeletal morphology	3949	LDLR	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	3949	LDLR	OMIM:143890
HP:0011842	Abnormal skeletal morphology	255738	PCSK9	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	255738	PCSK9	OMIM:603776
HP:0011842	Abnormal skeletal morphology	26119	LDLRAP1	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	26119	LDLRAP1	OMIM:603813
HP:0011842	Abnormal skeletal morphology	338	APOB	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	64240	ABCG5	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	64240	ABCG5	OMIM:618666
HP:0011842	Abnormal skeletal morphology	64241	ABCG8	ORPHA:391665
HP:0011842	Abnormal skeletal morphology	336	APOA2	OMIM:143890
HP:0011842	Abnormal skeletal morphology	2053	EPHX2	OMIM:143890
HP:0011842	Abnormal skeletal morphology	10842	PPP1R17	OMIM:143890
HP:0011842	Abnormal skeletal morphology	1071	CETP	ORPHA:79506
HP:0011842	Abnormal skeletal morphology	345	APOC3	ORPHA:79506
HP:0011842	Abnormal skeletal morphology	7274	TTPA	OMIM:277460
HP:0011842	Abnormal skeletal morphology	348	APOE	ORPHA:412
HP:0011842	Abnormal skeletal morphology	335	APOA1	OMIM:618463
HP:0011842	Abnormal skeletal morphology	4322	MMP13	OMIM:250400
HP:0011842	Abnormal skeletal morphology	1499	CTNNB1	ORPHA:54595
HP:0011842	Abnormal skeletal morphology	6496	SIX3	OMIM:157170
HP:0011842	Abnormal skeletal morphology	60529	ALX4	OMIM:613451
HP:0011842	Abnormal skeletal morphology	189	AGXT	OMIM:259900
HP:0011842	Abnormal skeletal morphology	4160	MC4R	OMIM:618406
HP:0011842	Abnormal skeletal morphology	83706	FERMT3	OMIM:612840
HP:0011842	Abnormal skeletal morphology	5880	RAC2	OMIM:618986
HP:0011842	Abnormal skeletal morphology	9094	UNC119	OMIM:615518
HP:0011842	Abnormal skeletal morphology	6813	STXBP2	OMIM:613101
HP:0011842	Abnormal skeletal morphology	50615	IL21R	OMIM:615207
HP:0011842	Abnormal skeletal morphology	85452	CFAP74	OMIM:620197
HP:0011842	Abnormal skeletal morphology	8382	NME5	OMIM:620032
HP:0011842	Abnormal skeletal morphology	84061	MAGT1	OMIM:300853
HP:0011842	Abnormal skeletal morphology	10625	IVNS1ABP	OMIM:618969
HP:0011842	Abnormal skeletal morphology	3551	IKBKB	OMIM:618204
HP:0011842	Abnormal skeletal morphology	23765	IL17RA	OMIM:613953
HP:0011842	Abnormal skeletal morphology	81704	DOCK8	OMIM:243700
HP:0011842	Abnormal skeletal morphology	81704	DOCK8	ORPHA:217390
HP:0011842	Abnormal skeletal morphology	721	C4B	OMIM:614379
HP:0011842	Abnormal skeletal morphology	6688	SPI1	OMIM:619707
HP:0011842	Abnormal skeletal morphology	2214	FCGR3A	OMIM:615707
HP:0011842	Abnormal skeletal morphology	6890	TAP1	OMIM:604571
HP:0011842	Abnormal skeletal morphology	6891	TAP2	OMIM:604571
HP:0011842	Abnormal skeletal morphology	6892	TAPBP	OMIM:604571
HP:0011842	Abnormal skeletal morphology	54440	SASH3	OMIM:301082
HP:0011842	Abnormal skeletal morphology	146845	CFAP52	OMIM:619607
HP:0011842	Abnormal skeletal morphology	25790	CFAP45	OMIM:619608
HP:0011842	Abnormal skeletal morphology	11146	GLMN	ORPHA:83454
HP:0011842	Abnormal skeletal morphology	3248	HPGD	ORPHA:217059
HP:0011842	Abnormal skeletal morphology	29998	BICRA	OMIM:619325
HP:0011842	Abnormal skeletal morphology	92579	G6PC3	OMIM:612541
HP:0011842	Abnormal skeletal morphology	8726	EED	OMIM:617561
HP:0011842	Abnormal skeletal morphology	8726	EED	ORPHA:3447
HP:0011842	Abnormal skeletal morphology	5718	PSMD12	ORPHA:529962
HP:0011842	Abnormal skeletal morphology	657	BMPR1A	ORPHA:79076
HP:0011842	Abnormal skeletal morphology	79759	ZNF668	OMIM:620194
HP:0011842	Abnormal skeletal morphology	4123	MAN2C1	OMIM:619775
HP:0011842	Abnormal skeletal morphology	2146	EZH2	OMIM:277590
HP:0011842	Abnormal skeletal morphology	2146	EZH2	ORPHA:3447
HP:0011842	Abnormal skeletal morphology	64324	NSD1	ORPHA:3447
HP:0011842	Abnormal skeletal morphology	23512	SUZ12	ORPHA:3447
HP:0011842	Abnormal skeletal morphology	5587	PRKD1	OMIM:617364
HP:0011842	Abnormal skeletal morphology	93587	TRMT10A	ORPHA:391408
HP:0011842	Abnormal skeletal morphology	84919	PPP1R15B	ORPHA:391408
HP:0011842	Abnormal skeletal morphology	7355	SLC35A2	ORPHA:356961
HP:0011842	Abnormal skeletal morphology	1497	CTNS	ORPHA:411634
HP:0011842	Abnormal skeletal morphology	3178	HNRNPA1	ORPHA:52430
HP:0011842	Abnormal skeletal morphology	7415	VCP	ORPHA:52430
HP:0011842	Abnormal skeletal morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0011842	Abnormal skeletal morphology	8294	H4C9	OMIM:619951
HP:0011842	Abnormal skeletal morphology	5881	RAC3	OMIM:618577
HP:0011842	Abnormal skeletal morphology	815	CAMK2A	OMIM:617798
HP:0011842	Abnormal skeletal morphology	2890	GRIA1	OMIM:619927
HP:0011842	Abnormal skeletal morphology	781	CACNA2D1	OMIM:620149
HP:0011842	Abnormal skeletal morphology	51604	PIGT	OMIM:615398
HP:0011842	Abnormal skeletal morphology	158326	FREM1	OMIM:614485
HP:0011842	Abnormal skeletal morphology	1024	CDK8	OMIM:618748
HP:0011842	Abnormal skeletal morphology	4774	NFIA	OMIM:613735
HP:0011842	Abnormal skeletal morphology	8496	PPFIBP1	OMIM:620024
HP:0011842	Abnormal skeletal morphology	56098	PCDHGC4	OMIM:619880
HP:0011842	Abnormal skeletal morphology	10736	SIX2	ORPHA:488437
HP:0011842	Abnormal skeletal morphology	1642	DDB1	OMIM:619426
HP:0011842	Abnormal skeletal morphology	11160	ERLIN2	ORPHA:280384
HP:0011842	Abnormal skeletal morphology	11160	ERLIN2	ORPHA:209951
HP:0011842	Abnormal skeletal morphology	11160	ERLIN2	OMIM:611225
HP:0011842	Abnormal skeletal morphology	85465	SELENOI	ORPHA:506353
HP:0011842	Abnormal skeletal morphology	85465	SELENOI	OMIM:618768
HP:0011842	Abnormal skeletal morphology	51062	ATL1	ORPHA:100984
HP:0011842	Abnormal skeletal morphology	4728	NDUFS8	OMIM:618222
HP:0011842	Abnormal skeletal morphology	10159	ATP6AP2	ORPHA:363654
HP:0011842	Abnormal skeletal morphology	6683	SPAST	ORPHA:100985
HP:0011842	Abnormal skeletal morphology	9420	CYP7B1	ORPHA:100986
HP:0011842	Abnormal skeletal morphology	23516	SLC39A14	OMIM:617013
HP:0011842	Abnormal skeletal morphology	23516	SLC39A14	ORPHA:521406
HP:0011842	Abnormal skeletal morphology	3839	KPNA3	OMIM:620106
HP:0011842	Abnormal skeletal morphology	959	CD40LG	OMIM:308230
HP:0011842	Abnormal skeletal morphology	64837	KLC2	OMIM:609541
HP:0011842	Abnormal skeletal morphology	2258	FGF13	OMIM:301058
HP:0011842	Abnormal skeletal morphology	440193	CCDC88C	OMIM:616053
HP:0011842	Abnormal skeletal morphology	6647	SOD1	OMIM:618598
HP:0011842	Abnormal skeletal morphology	6253	RTN2	OMIM:604805
HP:0011842	Abnormal skeletal morphology	84340	GFM2	OMIM:618397
HP:0011842	Abnormal skeletal morphology	84340	GFM2	ORPHA:565624
HP:0011842	Abnormal skeletal morphology	79152	FA2H	ORPHA:171629
HP:0011842	Abnormal skeletal morphology	79152	FA2H	OMIM:612319
HP:0011842	Abnormal skeletal morphology	9409	PEX16	OMIM:614877
HP:0011842	Abnormal skeletal morphology	6509	SLC1A4	OMIM:616657
HP:0011842	Abnormal skeletal morphology	9338	TCEAL1	OMIM:301094
HP:0011842	Abnormal skeletal morphology	5456	POU3F4	ORPHA:1435
HP:0011842	Abnormal skeletal morphology	55129	ANO10	ORPHA:284289
HP:0011842	Abnormal skeletal morphology	16	AARS1	OMIM:619691
HP:0011842	Abnormal skeletal morphology	219285	SAMD9L	OMIM:159550
HP:0011842	Abnormal skeletal morphology	3064	HTT	OMIM:617435
HP:0011842	Abnormal skeletal morphology	118813	ZFYVE27	OMIM:610244
HP:0011842	Abnormal skeletal morphology	57704	GBA2	OMIM:614409
HP:0011842	Abnormal skeletal morphology	2581	GALC	ORPHA:206436
HP:0011842	Abnormal skeletal morphology	5660	PSAP	ORPHA:206436
HP:0011842	Abnormal skeletal morphology	1678	TIMM8A	ORPHA:52368
HP:0011842	Abnormal skeletal morphology	6712	SPTBN2	OMIM:600224
HP:0011842	Abnormal skeletal morphology	823	CAPN1	ORPHA:488594
HP:0011842	Abnormal skeletal morphology	10749	KIF1C	OMIM:611302
HP:0011842	Abnormal skeletal morphology	8398	PLA2G6	OMIM:612953
HP:0011842	Abnormal skeletal morphology	113278	SLC52A3	OMIM:211530
HP:0011842	Abnormal skeletal morphology	11113	CIT	OMIM:617090
HP:0011842	Abnormal skeletal morphology	27183	VPS4A	OMIM:619273
HP:0011842	Abnormal skeletal morphology	3376	IARS1	OMIM:617093
HP:0011842	Abnormal skeletal morphology	1021	CDK6	OMIM:616080
HP:0011842	Abnormal skeletal morphology	80347	COASY	OMIM:618266
HP:0011842	Abnormal skeletal morphology	2903	GRIN2A	OMIM:245570
HP:0011842	Abnormal skeletal morphology	2903	GRIN2A	ORPHA:289266
HP:0011842	Abnormal skeletal morphology	163786	SASS6	OMIM:616402
HP:0011842	Abnormal skeletal morphology	51343	FZR1	OMIM:620145
HP:0011842	Abnormal skeletal morphology	81570	CLPB	ORPHA:445038
HP:0011842	Abnormal skeletal morphology	51112	TRAPPC12	ORPHA:500144
HP:0011842	Abnormal skeletal morphology	51124	IER3IP1	OMIM:614231
HP:0011842	Abnormal skeletal morphology	9918	NCAPD2	OMIM:617983
HP:0011842	Abnormal skeletal morphology	55755	CDK5RAP2	OMIM:604804
HP:0011842	Abnormal skeletal morphology	25828	TXN2	ORPHA:478029
HP:0011842	Abnormal skeletal morphology	55262	TRAPPC14	OMIM:618351
HP:0011842	Abnormal skeletal morphology	1841	DTYMK	OMIM:619847
HP:0011842	Abnormal skeletal morphology	9662	CEP135	OMIM:614673
HP:0011842	Abnormal skeletal morphology	27185	DISC1	ORPHA:171703
HP:0011842	Abnormal skeletal morphology	8320	EOMES	ORPHA:171703
HP:0011842	Abnormal skeletal morphology	57082	KNL1	OMIM:604321
HP:0011842	Abnormal skeletal morphology	55691	FRMD4A	OMIM:616819
HP:0011842	Abnormal skeletal morphology	55691	FRMD4A	ORPHA:466688
HP:0011842	Abnormal skeletal morphology	63925	ZNF335	OMIM:615095
HP:0011842	Abnormal skeletal morphology	1984	EIF5A	OMIM:619376
HP:0011842	Abnormal skeletal morphology	23511	NUP188	OMIM:618804
HP:0011842	Abnormal skeletal morphology	51294	PCDH12	OMIM:251280
HP:0011842	Abnormal skeletal morphology	10015	PDCD6IP	OMIM:620047
HP:0011842	Abnormal skeletal morphology	80254	CEP63	OMIM:614728
HP:0011842	Abnormal skeletal morphology	79648	MCPH1	OMIM:251200
HP:0011842	Abnormal skeletal morphology	6045	RNF2	OMIM:619460
HP:0011842	Abnormal skeletal morphology	283989	TSEN54	ORPHA:166063
HP:0011842	Abnormal skeletal morphology	4905	NSF	OMIM:619340
HP:0011842	Abnormal skeletal morphology	9181	ARHGEF2	OMIM:617523
HP:0011842	Abnormal skeletal morphology	6452	SH3BP2	ORPHA:184
HP:0011842	Abnormal skeletal morphology	5468	PPARG	ORPHA:528
HP:0011842	Abnormal skeletal morphology	10555	AGPAT2	ORPHA:528
HP:0011842	Abnormal skeletal morphology	284119	CAVIN1	ORPHA:528
HP:0011842	Abnormal skeletal morphology	2353	FOS	ORPHA:528
HP:0011842	Abnormal skeletal morphology	7276	TTR	OMIM:115430
HP:0011842	Abnormal skeletal morphology	55719	SLF2	OMIM:620184
HP:0011842	Abnormal skeletal morphology	6840	SVIL	OMIM:619040
HP:0011842	Abnormal skeletal morphology	28982	FLVCR1	ORPHA:88628
HP:0011842	Abnormal skeletal morphology	28982	FLVCR1	OMIM:609033
HP:0011842	Abnormal skeletal morphology	6399	TRAPPC2	ORPHA:93284
HP:0011842	Abnormal skeletal morphology	5696	PSMB8	OMIM:256040
HP:0011842	Abnormal skeletal morphology	5692	PSMB4	OMIM:617591
HP:0011842	Abnormal skeletal morphology	5698	PSMB9	OMIM:617591
HP:0011842	Abnormal skeletal morphology	4952	OCRL	OMIM:309000
HP:0011842	Abnormal skeletal morphology	64127	NOD2	OMIM:186580
HP:0011842	Abnormal skeletal morphology	10559	SLC35A1	OMIM:603585
HP:0011842	Abnormal skeletal morphology	84231	TRAF7	OMIM:618164
HP:0011842	Abnormal skeletal morphology	11043	MID2	OMIM:300928
HP:0011842	Abnormal skeletal morphology	3872	KRT17	ORPHA:2309
HP:0011842	Abnormal skeletal morphology	3853	KRT6A	ORPHA:2309
HP:0011842	Abnormal skeletal morphology	3854	KRT6B	ORPHA:2309
HP:0011842	Abnormal skeletal morphology	51256	TBC1D7	OMIM:248000
HP:0011842	Abnormal skeletal morphology	55623	THUMPD1	OMIM:619989
HP:0011842	Abnormal skeletal morphology	3762	KCNJ5	ORPHA:37553
HP:0011842	Abnormal skeletal morphology	2019	EN1	OMIM:619218
HP:0011842	Abnormal skeletal morphology	2591	GALNT3	OMIM:211900
HP:0011842	Abnormal skeletal morphology	64132	XYLT2	OMIM:605822
HP:0011842	Abnormal skeletal morphology	10312	TCIRG1	OMIM:259700
HP:0011842	Abnormal skeletal morphology	8792	TNFRSF11A	OMIM:612301
HP:0011842	Abnormal skeletal morphology	221496	LEMD2	OMIM:619322
HP:0011842	Abnormal skeletal morphology	1277	COL1A1	OMIM:619115
HP:0011842	Abnormal skeletal morphology	1290	COL5A2	OMIM:130010
HP:0011842	Abnormal skeletal morphology	2688	GH1	OMIM:612781
HP:0011842	Abnormal skeletal morphology	7148	TNXB	OMIM:606408
HP:0011842	Abnormal skeletal morphology	128	ADH5	OMIM:619151
HP:0011842	Abnormal skeletal morphology	8651	SOCS1	OMIM:619375
HP:0011842	Abnormal skeletal morphology	3373	HYAL1	OMIM:601492
HP:0011842	Abnormal skeletal morphology	8815	BANF1	OMIM:614008
HP:0011842	Abnormal skeletal morphology	64423	INF2	OMIM:614455
HP:0011842	Abnormal skeletal morphology	8566	PDXK	OMIM:618511
HP:0011842	Abnormal skeletal morphology	57038	RARS2	OMIM:611523
HP:0011842	Abnormal skeletal morphology	79644	SRD5A3	OMIM:612713
HP:0011842	Abnormal skeletal morphology	26092	TOR1AIP1	OMIM:617072
HP:0011842	Abnormal skeletal morphology	11340	EXOSC8	OMIM:616081
HP:0011842	Abnormal skeletal morphology	197258	FCSK	OMIM:618324
HP:0011842	Abnormal skeletal morphology	2530	FUT8	OMIM:618005
HP:0011842	Abnormal skeletal morphology	11019	LIAS	OMIM:614462
HP:0011842	Abnormal skeletal morphology	51501	HIKESHI	OMIM:616881
HP:0011842	Abnormal skeletal morphology	9255	AIMP1	OMIM:260600
HP:0011842	Abnormal skeletal morphology	56270	WDR45B	OMIM:617977
HP:0011842	Abnormal skeletal morphology	5111	PCNA	OMIM:615919
HP:0011842	Abnormal skeletal morphology	65993	MRPS34	OMIM:617664
HP:0011842	Abnormal skeletal morphology	2893	GRIA4	OMIM:617864
HP:0011842	Abnormal skeletal morphology	6785	ELOVL4	OMIM:614457
HP:0011842	Abnormal skeletal morphology	23534	TNPO3	OMIM:608423
HP:0011842	Abnormal skeletal morphology	126129	CPT1C	OMIM:616282
HP:0011842	Abnormal skeletal morphology	4361	MRE11	ORPHA:251347
HP:0011842	Abnormal skeletal morphology	129685	TAF8	OMIM:619972
HP:0011842	Abnormal skeletal morphology	10466	COG5	ORPHA:263487
HP:0011842	Abnormal skeletal morphology	84342	COG8	OMIM:611182
HP:0011842	Abnormal skeletal morphology	1747	DLX3	ORPHA:3352
HP:0011842	Abnormal skeletal morphology	79731	NARS2	ORPHA:79134
HP:0011842	Abnormal skeletal morphology	5654	HTRA1	ORPHA:199354
HP:0011842	Abnormal skeletal morphology	8738	CRADD	OMIM:614499
HP:0011842	Abnormal skeletal morphology	23309	SIN3B	ORPHA:500166
HP:0011842	Abnormal skeletal morphology	79228	THOC6	ORPHA:363444
HP:0011842	Abnormal skeletal morphology	57589	RIC1	OMIM:618761
HP:0011842	Abnormal skeletal morphology	387119	CEP85L	OMIM:618873
HP:0011842	Abnormal skeletal morphology	55280	CWF19L1	ORPHA:453521
HP:0011842	Abnormal skeletal morphology	55280	CWF19L1	OMIM:616127
HP:0011842	Abnormal skeletal morphology	2904	GRIN2B	OMIM:616139
HP:0011842	Abnormal skeletal morphology	644096	SDHAF1	ORPHA:3208
HP:0011842	Abnormal skeletal morphology	55503	TRPV6	OMIM:618188
HP:0011842	Abnormal skeletal morphology	25923	ATL3	OMIM:615632
HP:0011842	Abnormal skeletal morphology	23102	TBC1D2B	ORPHA:397973
HP:0011842	Abnormal skeletal morphology	3835	KIF22	ORPHA:93360
HP:0011842	Abnormal skeletal morphology	1063	CENPF	OMIM:243605
HP:0011842	Abnormal skeletal morphology	26047	CNTNAP2	ORPHA:163681
HP:0011842	Abnormal skeletal morphology	348180	CTU2	OMIM:618142
HP:0011842	Abnormal skeletal morphology	9371	KIF3B	OMIM:618955
HP:0011842	Abnormal skeletal morphology	286204	CRB2	OMIM:219730
HP:0011842	Abnormal skeletal morphology	84300	UQCC2	OMIM:615824
HP:0011842	Abnormal skeletal morphology	111	ADCY5	OMIM:606703
HP:0011842	Abnormal skeletal morphology	27235	COQ2	ORPHA:227510
HP:0011842	Abnormal skeletal morphology	27235	COQ2	ORPHA:98933
HP:0011842	Abnormal skeletal morphology	10463	SLC30A9	OMIM:617595
HP:0011842	Abnormal skeletal morphology	3071	NCKAP1L	OMIM:618982
HP:0011842	Abnormal skeletal morphology	729238	SFTPA2	ORPHA:2032
HP:0011842	Abnormal skeletal morphology	729238	SFTPA2	OMIM:178500
HP:0011842	Abnormal skeletal morphology	727897	MUC5B	ORPHA:2032
HP:0011842	Abnormal skeletal morphology	727897	MUC5B	OMIM:178500
HP:0011842	Abnormal skeletal morphology	10144	FAM13A	ORPHA:2032
HP:0011842	Abnormal skeletal morphology	91039	DPP9	ORPHA:2032
HP:0011842	Abnormal skeletal morphology	440275	EIF2AK4	ORPHA:199241
HP:0011842	Abnormal skeletal morphology	59067	IL21	OMIM:615767
HP:0011842	Abnormal skeletal morphology	79651	RHBDF2	ORPHA:2198
HP:0011842	Abnormal skeletal morphology	7092	TLL1	ORPHA:99106
HP:0011842	Abnormal skeletal morphology	274	BIN1	ORPHA:169186
HP:0011842	Abnormal skeletal morphology	10290	SPEG	ORPHA:169186
HP:0011842	Abnormal skeletal morphology	6261	RYR1	ORPHA:169186
HP:0011842	Abnormal skeletal morphology	7273	TTN	ORPHA:169186
HP:0011842	Abnormal skeletal morphology	57459	GATAD2B	OMIM:615074
HP:0011842	Abnormal skeletal morphology	57459	GATAD2B	ORPHA:363686
HP:0011842	Abnormal skeletal morphology	1281	COL3A1	OMIM:618343
HP:0011842	Abnormal skeletal morphology	6660	SOX5	OMIM:616803
HP:0011842	Abnormal skeletal morphology	51520	LARS1	OMIM:615438
HP:0011842	Abnormal skeletal morphology	11128	POLR3A	OMIM:264090
HP:0011842	Abnormal skeletal morphology	11128	POLR3A	ORPHA:3455
HP:0011842	Abnormal skeletal morphology	116931	MED12L	OMIM:618872
HP:0011842	Abnormal skeletal morphology	203068	TUBB	OMIM:156610
HP:0011842	Abnormal skeletal morphology	9772	TMEM94	OMIM:618316
HP:0011842	Abnormal skeletal morphology	79971	WLS	OMIM:619648
HP:0011842	Abnormal skeletal morphology	2556	GABRA3	OMIM:301091
HP:0011842	Abnormal skeletal morphology	5373	PMM2	ORPHA:79318
HP:0011842	Abnormal skeletal morphology	51651	PTRH2	OMIM:616263
HP:0011842	Abnormal skeletal morphology	51651	PTRH2	ORPHA:456312
HP:0011842	Abnormal skeletal morphology	7528	YY1	OMIM:617557
HP:0011842	Abnormal skeletal morphology	755	CFAP410	OMIM:602271
HP:0011842	Abnormal skeletal morphology	5286	PIK3C2A	OMIM:618440
HP:0011842	Abnormal skeletal morphology	80169	CTC1	OMIM:612199
HP:0011842	Abnormal skeletal morphology	5830	PEX5	OMIM:616716
HP:0011842	Abnormal skeletal morphology	4041	LRP5	ORPHA:2790
HP:0011842	Abnormal skeletal morphology	4041	LRP5	OMIM:144750
HP:0011842	Abnormal skeletal morphology	79705	LRRK1	OMIM:615198
HP:0011842	Abnormal skeletal morphology	23592	LEMD3	ORPHA:166119
HP:0011842	Abnormal skeletal morphology	1235	CCR6	ORPHA:220393
HP:0011842	Abnormal skeletal morphology	1235	CCR6	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	1490	CCN2	ORPHA:220393
HP:0011842	Abnormal skeletal morphology	1490	CCN2	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	3663	IRF5	ORPHA:220393
HP:0011842	Abnormal skeletal morphology	3663	IRF5	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	857	CAV1	ORPHA:220393
HP:0011842	Abnormal skeletal morphology	857	CAV1	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	3123	HLA-DRB1	ORPHA:220393
HP:0011842	Abnormal skeletal morphology	3123	HLA-DRB1	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	79932	KIAA0319L	ORPHA:220402
HP:0011842	Abnormal skeletal morphology	9842	PLEKHM1	OMIM:611497
HP:0011842	Abnormal skeletal morphology	404672	GTF2H5	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	833	CARS1	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	2068	ERCC2	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	7737	RNF113A	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	136647	MPLKIP	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	6897	TARS1	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	2071	ERCC3	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	2961	GTF2E2	ORPHA:33364
HP:0011842	Abnormal skeletal morphology	63916	ELMO2	OMIM:606893
HP:0011842	Abnormal skeletal morphology	55084	SOBP	OMIM:613671
HP:0001631	Atrial septal defect	8036	SHOC2	OMIM:607721
HP:0001631	Atrial septal defect	10617	STAMBP	OMIM:614261
HP:0001631	Atrial septal defect	8216	LZTR1	OMIM:616564
HP:0001631	Atrial septal defect	8216	LZTR1	OMIM:605275
HP:0001631	Atrial septal defect	91754	NEK9	OMIM:614262
HP:0001631	Atrial septal defect	4750	NEK1	OMIM:263520
HP:0001631	Atrial septal defect	23334	SZT2	OMIM:615476
HP:0001631	Atrial septal defect	6016	RIT1	OMIM:615355
HP:0001631	Atrial septal defect	4625	MYH7	ORPHA:1880
HP:0001631	Atrial septal defect	81857	MED25	OMIM:616449
HP:0001631	Atrial septal defect	81857	MED25	ORPHA:464738
HP:0001631	Atrial septal defect	1788	DNMT3A	ORPHA:404443
HP:0001631	Atrial septal defect	1788	DNMT3A	OMIM:615879
HP:0001631	Atrial septal defect	1131	CHRM3	ORPHA:2970
HP:0001631	Atrial septal defect	64220	STRA6	OMIM:601186
HP:0001631	Atrial septal defect	3190	HNRNPK	ORPHA:453504
HP:0001631	Atrial septal defect	3190	HNRNPK	ORPHA:352665
HP:0001631	Atrial septal defect	10743	RAI1	ORPHA:477817
HP:0001631	Atrial septal defect	197131	UBR1	OMIM:243800
HP:0001631	Atrial septal defect	23498	HAAO	OMIM:617660
HP:0001631	Atrial septal defect	3020	H3-3A	OMIM:619720
HP:0001631	Atrial septal defect	3021	H3-3B	OMIM:619721
HP:0001631	Atrial septal defect	2050	EPHB4	OMIM:617300
HP:0001631	Atrial septal defect	55790	CSGALNACT1	OMIM:618870
HP:0001631	Atrial septal defect	65082	VPS33A	OMIM:617303
HP:0001631	Atrial septal defect	65082	VPS33A	ORPHA:505248
HP:0001631	Atrial septal defect	2201	FBN2	OMIM:121050
HP:0001631	Atrial septal defect	10084	PQBP1	ORPHA:93946
HP:0001631	Atrial septal defect	10084	PQBP1	ORPHA:93947
HP:0001631	Atrial septal defect	10084	PQBP1	OMIM:309500
HP:0001631	Atrial septal defect	6595	SMARCA2	ORPHA:2728
HP:0001631	Atrial septal defect	2132	EXT2	ORPHA:466926
HP:0001631	Atrial septal defect	28960	DCPS	OMIM:616459
HP:0001631	Atrial septal defect	9200	HACD1	OMIM:619967
HP:0001631	Atrial septal defect	23384	SPECC1L	ORPHA:1519
HP:0001631	Atrial septal defect	23384	SPECC1L	OMIM:145420
HP:0001631	Atrial septal defect	7086	TKT	ORPHA:488618
HP:0001631	Atrial septal defect	7086	TKT	OMIM:617044
HP:0001631	Atrial septal defect	57231	SNX14	ORPHA:397709
HP:0001631	Atrial septal defect	2188	FANCF	OMIM:603467
HP:0001631	Atrial septal defect	2188	FANCF	ORPHA:84
HP:0001631	Atrial septal defect	284058	KANSL1	ORPHA:363958
HP:0001631	Atrial septal defect	284058	KANSL1	OMIM:610443
HP:0001631	Atrial septal defect	284058	KANSL1	ORPHA:363965
HP:0001631	Atrial septal defect	9968	MED12	ORPHA:93932
HP:0001631	Atrial septal defect	9968	MED12	OMIM:301068
HP:0001631	Atrial septal defect	9968	MED12	ORPHA:776
HP:0001631	Atrial septal defect	9968	MED12	OMIM:309520
HP:0001631	Atrial septal defect	2261	FGFR3	ORPHA:1860
HP:0001631	Atrial septal defect	2261	FGFR3	ORPHA:93274
HP:0001631	Atrial septal defect	55109	AGGF1	ORPHA:90308
HP:0001631	Atrial septal defect	64359	NXN	ORPHA:1507
HP:0001631	Atrial septal defect	4920	ROR2	ORPHA:1507
HP:0001631	Atrial septal defect	4313	MMP2	ORPHA:371428
HP:0001631	Atrial septal defect	4323	MMP14	ORPHA:371428
HP:0001631	Atrial septal defect	5566	PRKACA	ORPHA:289
HP:0001631	Atrial septal defect	5567	PRKACB	ORPHA:289
HP:0001631	Atrial septal defect	2735	GLI1	ORPHA:289
HP:0001631	Atrial septal defect	2121	EVC	ORPHA:289
HP:0001631	Atrial septal defect	2121	EVC	OMIM:225500
HP:0001631	Atrial septal defect	51626	DYNC2LI1	ORPHA:289
HP:0001631	Atrial septal defect	132884	EVC2	ORPHA:289
HP:0001631	Atrial septal defect	132884	EVC2	OMIM:225500
HP:0001631	Atrial septal defect	10815	CPLX1	ORPHA:280
HP:0001631	Atrial septal defect	10815	CPLX1	OMIM:194190
HP:0001631	Atrial septal defect	54872	PIGG	ORPHA:280
HP:0001631	Atrial septal defect	7469	NELFA	ORPHA:280
HP:0001631	Atrial septal defect	1487	CTBP1	ORPHA:280
HP:0001631	Atrial septal defect	1487	CTBP1	OMIM:194190
HP:0001631	Atrial septal defect	3954	LETM1	ORPHA:280
HP:0001631	Atrial septal defect	3954	LETM1	OMIM:194190
HP:0001631	Atrial septal defect	7468	NSD2	ORPHA:280
HP:0001631	Atrial septal defect	7468	NSD2	OMIM:194190
HP:0001631	Atrial septal defect	22884	WDR37	OMIM:618652
HP:0001631	Atrial septal defect	833	CARS1	OMIM:618891
HP:0001631	Atrial septal defect	7092	TLL1	OMIM:613087
HP:0001631	Atrial septal defect	8550	MAPKAPK5	OMIM:619869
HP:0001631	Atrial septal defect	26040	SETBP1	OMIM:269150
HP:0001631	Atrial septal defect	2296	FOXC1	OMIM:602482
HP:0001631	Atrial septal defect	8241	RBM10	OMIM:311900
HP:0001631	Atrial septal defect	8241	RBM10	ORPHA:2886
HP:0001631	Atrial septal defect	5337	PLD1	OMIM:212093
HP:0001631	Atrial septal defect	1182	CLCN3	OMIM:619512
HP:0001631	Atrial septal defect	1349	COX7B	OMIM:309801
HP:0001631	Atrial septal defect	1349	COX7B	OMIM:300887
HP:0001631	Atrial septal defect	3052	HCCS	OMIM:309801
HP:0001631	Atrial septal defect	54539	NDUFB11	OMIM:309801
HP:0001631	Atrial septal defect	23126	POGZ	OMIM:616364
HP:0001631	Atrial septal defect	54914	FOCAD	OMIM:619991
HP:0001631	Atrial septal defect	8558	CDK10	OMIM:617694
HP:0001631	Atrial septal defect	51633	OTUD6B	OMIM:617452
HP:0001631	Atrial septal defect	51633	OTUD6B	ORPHA:505237
HP:0001631	Atrial septal defect	5604	MAP2K1	OMIM:615279
HP:0001631	Atrial septal defect	5604	MAP2K1	ORPHA:1340
HP:0001631	Atrial septal defect	5604	MAP2K1	OMIM:163950
HP:0001631	Atrial septal defect	6134	RPL10	ORPHA:459070
HP:0001631	Atrial septal defect	6134	RPL10	OMIM:300998
HP:0001631	Atrial septal defect	286	ANK1	ORPHA:251066
HP:0001631	Atrial septal defect	415	ARSL	ORPHA:79345
HP:0001631	Atrial septal defect	79796	ALG9	ORPHA:79328
HP:0001631	Atrial septal defect	7385	UQCRC2	OMIM:615160
HP:0001631	Atrial septal defect	7750	ZMYM2	OMIM:619522
HP:0001631	Atrial septal defect	10991	SLC38A3	OMIM:619881
HP:0001631	Atrial septal defect	9772	TMEM94	OMIM:618316
HP:0001631	Atrial septal defect	51341	ZBTB7A	OMIM:619769
HP:0001631	Atrial septal defect	7841	MOGS	ORPHA:79330
HP:0001631	Atrial septal defect	2316	FLNA	OMIM:304120
HP:0001631	Atrial septal defect	57724	EPG5	OMIM:242840
HP:0001631	Atrial septal defect	23556	PIGN	OMIM:614080
HP:0001631	Atrial septal defect	23556	PIGN	ORPHA:280633
HP:0001631	Atrial septal defect	2239	GPC4	ORPHA:373
HP:0001631	Atrial septal defect	2239	GPC4	OMIM:312870
HP:0001631	Atrial septal defect	2719	GPC3	ORPHA:373
HP:0001631	Atrial septal defect	2719	GPC3	OMIM:312870
HP:0001631	Atrial septal defect	285203	EOGT	OMIM:615297
HP:0001631	Atrial septal defect	54916	TMEM260	OMIM:617478
HP:0001631	Atrial septal defect	4087	SMAD2	OMIM:619657
HP:0001631	Atrial septal defect	1107	CHD3	OMIM:618205
HP:0001631	Atrial septal defect	3756	KCNH1	OMIM:611816
HP:0001631	Atrial septal defect	6138	RPL15	ORPHA:124
HP:0001631	Atrial septal defect	6229	RPS24	ORPHA:124
HP:0001631	Atrial septal defect	6125	RPL5	ORPHA:124
HP:0001631	Atrial septal defect	6125	RPL5	OMIM:612561
HP:0001631	Atrial septal defect	6204	RPS10	ORPHA:124
HP:0001631	Atrial septal defect	6224	RPS20	ORPHA:124
HP:0001631	Atrial septal defect	6165	RPL35A	ORPHA:124
HP:0001631	Atrial septal defect	2623	GATA1	ORPHA:124
HP:0001631	Atrial septal defect	2623	GATA1	OMIM:190685
HP:0001631	Atrial septal defect	6223	RPS19	ORPHA:124
HP:0001631	Atrial septal defect	6223	RPS19	OMIM:105650
HP:0001631	Atrial septal defect	6232	RPS27	ORPHA:124
HP:0001631	Atrial septal defect	6231	RPS26	ORPHA:124
HP:0001631	Atrial septal defect	11224	RPL35	ORPHA:124
HP:0001631	Atrial septal defect	6160	RPL31	ORPHA:124
HP:0001631	Atrial septal defect	6218	RPS17	ORPHA:124
HP:0001631	Atrial septal defect	6218	RPS17	OMIM:612527
HP:0001631	Atrial septal defect	6201	RPS7	ORPHA:124
HP:0001631	Atrial septal defect	6155	RPL27	ORPHA:124
HP:0001631	Atrial septal defect	6155	RPL27	OMIM:617408
HP:0001631	Atrial septal defect	6154	RPL26	ORPHA:124
HP:0001631	Atrial septal defect	6210	RPS15A	ORPHA:124
HP:0001631	Atrial septal defect	90121	TSR2	ORPHA:124
HP:0001631	Atrial septal defect	6141	RPL18	ORPHA:124
HP:0001631	Atrial septal defect	6235	RPS29	ORPHA:124
HP:0001631	Atrial septal defect	6234	RPS28	ORPHA:124
HP:0001631	Atrial septal defect	51816	ADA2	ORPHA:124
HP:0001631	Atrial septal defect	3845	KRAS	OMIM:600268
HP:0001631	Atrial septal defect	3845	KRAS	ORPHA:1340
HP:0001631	Atrial septal defect	3845	KRAS	OMIM:609942
HP:0001631	Atrial septal defect	25970	SH2B1	ORPHA:261197
HP:0001631	Atrial septal defect	8621	CDK13	OMIM:617360
HP:0001631	Atrial septal defect	1523	CUX1	OMIM:618330
HP:0001631	Atrial septal defect	7046	TGFBR1	OMIM:609192
HP:0001631	Atrial septal defect	6654	SOS1	OMIM:610733
HP:0001631	Atrial septal defect	1801	DPH1	ORPHA:459061
HP:0001631	Atrial septal defect	7080	NKX2-1	OMIM:610978
HP:0001631	Atrial septal defect	7080	NKX2-1	ORPHA:209905
HP:0001631	Atrial septal defect	2879	GPX4	OMIM:250220
HP:0001631	Atrial septal defect	64132	XYLT2	OMIM:605822
HP:0001631	Atrial septal defect	2737	GLI3	ORPHA:672
HP:0001631	Atrial septal defect	9361	LONP1	OMIM:600373
HP:0001631	Atrial septal defect	6909	TBX2	OMIM:618223
HP:0001631	Atrial septal defect	6477	SIAH1	OMIM:619314
HP:0001631	Atrial septal defect	123606	NIPA1	ORPHA:261183
HP:0001631	Atrial septal defect	7283	TUBG1	ORPHA:261183
HP:0001631	Atrial septal defect	81614	NIPA2	ORPHA:261183
HP:0001631	Atrial septal defect	92335	STRADA	ORPHA:500533
HP:0001631	Atrial septal defect	92335	STRADA	OMIM:611087
HP:0001631	Atrial septal defect	4838	NODAL	OMIM:270100
HP:0001631	Atrial septal defect	55315	SLC29A3	OMIM:602782
HP:0001631	Atrial septal defect	6888	TALDO1	ORPHA:101028
HP:0001631	Atrial septal defect	6888	TALDO1	OMIM:606003
HP:0001631	Atrial septal defect	6299	SALL1	OMIM:107480
HP:0001631	Atrial septal defect	6299	SALL1	ORPHA:857
HP:0001631	Atrial septal defect	7490	WT1	ORPHA:3097
HP:0001631	Atrial septal defect	7490	WT1	OMIM:608978
HP:0001631	Atrial septal defect	5515	PPP2CA	OMIM:618354
HP:0001631	Atrial septal defect	1387	CREBBP	ORPHA:353281
HP:0001631	Atrial septal defect	1387	CREBBP	OMIM:180849
HP:0001631	Atrial septal defect	1387	CREBBP	ORPHA:353277
HP:0001631	Atrial septal defect	650	BMP2	ORPHA:261295
HP:0001631	Atrial septal defect	6651	SON	OMIM:617140
HP:0001631	Atrial septal defect	6651	SON	ORPHA:500150
HP:0001631	Atrial septal defect	5649	RELN	ORPHA:89844
HP:0001631	Atrial septal defect	10300	KATNB1	ORPHA:89844
HP:0001631	Atrial septal defect	54820	NDE1	ORPHA:89844
HP:0001631	Atrial septal defect	55215	FANCI	OMIM:609053
HP:0001631	Atrial septal defect	55215	FANCI	ORPHA:84
HP:0001631	Atrial septal defect	1363	CPE	OMIM:619326
HP:0001631	Atrial septal defect	2033	EP300	ORPHA:353284
HP:0001631	Atrial septal defect	2033	EP300	OMIM:180849
HP:0001631	Atrial septal defect	51114	ZDHHC9	ORPHA:776
HP:0001631	Atrial septal defect	65109	UPF3B	ORPHA:776
HP:0001631	Atrial septal defect	5077	PAX3	ORPHA:896
HP:0001631	Atrial septal defect	9126	SMC3	OMIM:610759
HP:0001631	Atrial septal defect	9126	SMC3	ORPHA:199
HP:0001631	Atrial septal defect	4784	NFIX	OMIM:602535
HP:0001631	Atrial septal defect	2530	FUT8	OMIM:618005
HP:0001631	Atrial septal defect	50619	DEF6	OMIM:619573
HP:0001631	Atrial septal defect	10082	GPC6	OMIM:258315
HP:0001631	Atrial septal defect	1108	CHD4	OMIM:617159
HP:0001631	Atrial septal defect	54551	MAGEL2	ORPHA:398069
HP:0001631	Atrial septal defect	201163	FLCN	OMIM:610883
HP:0001631	Atrial septal defect	1312	COMT	ORPHA:567
HP:0001631	Atrial septal defect	221037	JMJD1C	ORPHA:567
HP:0001631	Atrial septal defect	2812	GP1BB	ORPHA:567
HP:0001631	Atrial septal defect	6239	RREB1	ORPHA:567
HP:0001631	Atrial septal defect	6899	TBX1	ORPHA:567
HP:0001631	Atrial septal defect	7290	HIRA	ORPHA:567
HP:0001631	Atrial septal defect	9632	SEC24C	ORPHA:567
HP:0001631	Atrial septal defect	7353	UFD1	ORPHA:567
HP:0001631	Atrial septal defect	421	ARVCF	ORPHA:567
HP:0001631	Atrial septal defect	7703	PCGF2	OMIM:618371
HP:0001631	Atrial septal defect	27031	NPHP3	OMIM:267010
HP:0001631	Atrial septal defect	27031	NPHP3	OMIM:208540
HP:0001631	Atrial septal defect	9496	TBX4	ORPHA:261279
HP:0001631	Atrial septal defect	26276	VPS33B	OMIM:208085
HP:0001631	Atrial septal defect	22808	MRAS	OMIM:618499
HP:0001631	Atrial septal defect	5277	PIGA	OMIM:300868
HP:0001631	Atrial septal defect	1822	ATN1	OMIM:618494
HP:0001631	Atrial septal defect	7403	KDM6A	OMIM:300867
HP:0001631	Atrial septal defect	7403	KDM6A	OMIM:147920
HP:0001631	Atrial septal defect	3188	HNRNPH2	OMIM:300986
HP:0001631	Atrial septal defect	54538	ROBO4	OMIM:618496
HP:0001631	Atrial septal defect	9343	EFTUD2	OMIM:610536
HP:0001631	Atrial septal defect	9343	EFTUD2	ORPHA:79113
HP:0001631	Atrial septal defect	55186	SLC25A36	OMIM:620211
HP:0001631	Atrial septal defect	26160	IFT172	OMIM:619471
HP:0001631	Atrial septal defect	5281	PIGF	OMIM:619356
HP:0001631	Atrial septal defect	1277	COL1A1	OMIM:619115
HP:0001631	Atrial septal defect	10526	IPO8	OMIM:619472
HP:0001631	Atrial septal defect	348180	CTU2	OMIM:618142
HP:0001631	Atrial septal defect	51604	PIGT	ORPHA:369837
HP:0001631	Atrial septal defect	145173	B3GLCT	OMIM:261540
HP:0001631	Atrial septal defect	92002	CCNQ	OMIM:300707
HP:0001631	Atrial septal defect	57514	ARHGAP31	OMIM:100300
HP:0001631	Atrial septal defect	8452	CUL3	OMIM:619239
HP:0001631	Atrial septal defect	2218	FKTN	OMIM:253800
HP:0001631	Atrial septal defect	113189	CHST14	OMIM:601776
HP:0001631	Atrial septal defect	51360	MBTPS2	OMIM:308205
HP:0001631	Atrial septal defect	7204	TRIO	OMIM:617061
HP:0001631	Atrial septal defect	374879	ZNF699	OMIM:619488
HP:0001631	Atrial septal defect	4841	NONO	OMIM:300967
HP:0001631	Atrial septal defect	4841	NONO	ORPHA:466791
HP:0001631	Atrial septal defect	51715	RAB23	OMIM:201000
HP:0001631	Atrial septal defect	8239	USP9X	OMIM:300968
HP:0001631	Atrial septal defect	8239	USP9X	ORPHA:480880
HP:0001631	Atrial septal defect	8318	CDC45	OMIM:617063
HP:0001631	Atrial septal defect	28952	CCDC22	OMIM:300963
HP:0001631	Atrial septal defect	28952	CCDC22	ORPHA:7
HP:0001631	Atrial septal defect	51339	DACT1	ORPHA:857
HP:0001631	Atrial septal defect	673	BRAF	OMIM:613706
HP:0001631	Atrial septal defect	673	BRAF	OMIM:115150
HP:0001631	Atrial septal defect	673	BRAF	ORPHA:1340
HP:0001631	Atrial septal defect	673	BRAF	OMIM:163950
HP:0001631	Atrial septal defect	126792	B3GALT6	OMIM:271640
HP:0001631	Atrial septal defect	745	MYRF	OMIM:618280
HP:0001631	Atrial septal defect	55252	ASXL2	OMIM:617190
HP:0001631	Atrial septal defect	84905	ZNF341	OMIM:618282
HP:0001631	Atrial septal defect	23387	SIK3	OMIM:618162
HP:0001631	Atrial septal defect	5528	PPP2R5D	ORPHA:457279
HP:0001631	Atrial septal defect	7716	VEZF1	OMIM:620247
HP:0001631	Atrial septal defect	5557	PRIM1	OMIM:620005
HP:0001631	Atrial septal defect	3643	INSR	ORPHA:769
HP:0001631	Atrial septal defect	59	ACTA2	OMIM:613834
HP:0001631	Atrial septal defect	4853	NOTCH2	OMIM:610205
HP:0001631	Atrial septal defect	23522	KAT6B	ORPHA:3047
HP:0001631	Atrial septal defect	23522	KAT6B	OMIM:606170
HP:0001631	Atrial septal defect	23522	KAT6B	ORPHA:85201
HP:0001631	Atrial septal defect	55901	THSD1	OMIM:620244
HP:0001631	Atrial septal defect	9897	WASHC5	ORPHA:7
HP:0001631	Atrial septal defect	9897	WASHC5	OMIM:220210
HP:0001631	Atrial septal defect	129285	PPP1R21	OMIM:619383
HP:0001631	Atrial septal defect	55181	SMG8	OMIM:619268
HP:0001631	Atrial septal defect	27161	AGO2	OMIM:619149
HP:0001631	Atrial septal defect	9652	SKIC3	ORPHA:84064
HP:0001631	Atrial septal defect	6499	SKIC2	ORPHA:84064
HP:0001631	Atrial septal defect	4713	NDUFB7	OMIM:620135
HP:0001631	Atrial septal defect	3480	IGF1R	OMIM:270450
HP:0001631	Atrial septal defect	8085	KMT2D	OMIM:147920
HP:0001631	Atrial septal defect	8085	KMT2D	OMIM:620186
HP:0001631	Atrial septal defect	2294	FOXF1	OMIM:265380
HP:0001631	Atrial septal defect	2294	FOXF1	ORPHA:210122
HP:0001631	Atrial septal defect	137814	NKX2-6	ORPHA:3384
HP:0001631	Atrial septal defect	23129	PLXND1	ORPHA:3384
HP:0001631	Atrial septal defect	23241	PACS2	OMIM:618067
HP:0001631	Atrial septal defect	57539	WDR35	OMIM:613610
HP:0001631	Atrial septal defect	5894	RAF1	OMIM:611553
HP:0001631	Atrial septal defect	8496	PPFIBP1	OMIM:620024
HP:0001631	Atrial septal defect	9839	ZEB2	OMIM:235730
HP:0001631	Atrial septal defect	64324	NSD1	ORPHA:821
HP:0001631	Atrial septal defect	64324	NSD1	OMIM:117550
HP:0001631	Atrial septal defect	29072	SETD2	ORPHA:821
HP:0001631	Atrial septal defect	10297	APC2	ORPHA:821
HP:0001631	Atrial septal defect	1278	COL1A2	ORPHA:230851
HP:0001631	Atrial septal defect	613	BCR	ORPHA:261330
HP:0001631	Atrial septal defect	1399	CRKL	ORPHA:261330
HP:0001631	Atrial septal defect	5594	MAPK1	ORPHA:261330
HP:0001631	Atrial septal defect	5594	MAPK1	OMIM:619087
HP:0001631	Atrial septal defect	89910	UBE3B	OMIM:244450
HP:0001631	Atrial septal defect	55788	LMBRD1	OMIM:277380
HP:0001631	Atrial septal defect	10847	SRCAP	ORPHA:2044
HP:0001631	Atrial septal defect	10847	SRCAP	OMIM:136140
HP:0001631	Atrial septal defect	1717	DHCR7	ORPHA:818
HP:0001631	Atrial septal defect	1717	DHCR7	OMIM:270400
HP:0001631	Atrial septal defect	56992	KIF15	ORPHA:261323
HP:0001631	Atrial septal defect	57492	ARID1B	OMIM:135900
HP:0001631	Atrial septal defect	57492	ARID1B	ORPHA:1465
HP:0001631	Atrial septal defect	1889	ECE1	OMIM:613870
HP:0001631	Atrial septal defect	672	BRCA1	ORPHA:84
HP:0001631	Atrial septal defect	10459	MAD2L2	ORPHA:84
HP:0001631	Atrial septal defect	7516	XRCC2	ORPHA:84
HP:0001631	Atrial septal defect	29089	UBE2T	ORPHA:84
HP:0001631	Atrial septal defect	675	BRCA2	ORPHA:84
HP:0001631	Atrial septal defect	55120	FANCL	ORPHA:84
HP:0001631	Atrial septal defect	2177	FANCD2	ORPHA:84
HP:0001631	Atrial septal defect	2175	FANCA	ORPHA:84
HP:0001631	Atrial septal defect	2187	FANCB	ORPHA:84
HP:0001631	Atrial septal defect	2176	FANCC	ORPHA:84
HP:0001631	Atrial septal defect	2178	FANCE	ORPHA:84
HP:0001631	Atrial septal defect	2189	FANCG	ORPHA:84
HP:0001631	Atrial septal defect	5888	RAD51	ORPHA:84
HP:0001631	Atrial septal defect	5889	RAD51C	ORPHA:84
HP:0001631	Atrial septal defect	55159	RFWD3	ORPHA:84
HP:0001631	Atrial septal defect	83990	BRIP1	ORPHA:84
HP:0001631	Atrial septal defect	57697	FANCM	ORPHA:84
HP:0001631	Atrial septal defect	79728	PALB2	ORPHA:84
HP:0001631	Atrial septal defect	84464	SLX4	ORPHA:84
HP:0001631	Atrial septal defect	6597	SMARCA4	OMIM:614609
HP:0001631	Atrial septal defect	6597	SMARCA4	ORPHA:1465
HP:0001631	Atrial septal defect	222663	SCUBE3	OMIM:619184
HP:0001631	Atrial septal defect	9896	FIG4	ORPHA:3472
HP:0001631	Atrial septal defect	55697	VAC14	ORPHA:3472
HP:0001631	Atrial septal defect	9184	BUB3	ORPHA:1052
HP:0001631	Atrial septal defect	9702	CEP57	ORPHA:1052
HP:0001631	Atrial septal defect	9702	CEP57	OMIM:614114
HP:0001631	Atrial septal defect	9319	TRIP13	ORPHA:1052
HP:0001631	Atrial septal defect	701	BUB1B	ORPHA:1052
HP:0001631	Atrial septal defect	701	BUB1B	OMIM:257300
HP:0001631	Atrial septal defect	26053	AUTS2	ORPHA:352490
HP:0001631	Atrial septal defect	6885	MAP3K7	OMIM:157800
HP:0001631	Atrial septal defect	55148	UBR7	OMIM:619189
HP:0001631	Atrial septal defect	1954	MEGF8	OMIM:614976
HP:0001631	Atrial septal defect	5728	PTEN	ORPHA:79076
HP:0001631	Atrial septal defect	657	BMPR1A	ORPHA:79076
HP:0001631	Atrial septal defect	26005	C2CD3	OMIM:615948
HP:0001631	Atrial septal defect	53834	FGFRL1	OMIM:194190
HP:0001631	Atrial septal defect	3265	HRAS	OMIM:218040
HP:0001631	Atrial septal defect	5826	ABCD4	OMIM:614857
HP:0001631	Atrial septal defect	2697	GJA1	OMIM:164200
HP:0001631	Atrial septal defect	2697	GJA1	ORPHA:2248
HP:0001631	Atrial septal defect	10841	FTCD	ORPHA:51208
HP:0001631	Atrial septal defect	5828	PEX2	OMIM:614866
HP:0001631	Atrial septal defect	6804	STX1A	ORPHA:904
HP:0001631	Atrial septal defect	7461	CLIP2	ORPHA:904
HP:0001631	Atrial septal defect	84277	DNAJC30	ORPHA:904
HP:0001631	Atrial septal defect	8468	FKBP6	ORPHA:904
HP:0001631	Atrial septal defect	5982	RFC2	ORPHA:904
HP:0001631	Atrial septal defect	2969	GTF2I	ORPHA:904
HP:0001631	Atrial septal defect	3984	LIMK1	ORPHA:904
HP:0001631	Atrial septal defect	9569	GTF2IRD1	ORPHA:904
HP:0001631	Atrial septal defect	155382	VPS37D	ORPHA:904
HP:0001631	Atrial septal defect	155368	METTL27	ORPHA:904
HP:0001631	Atrial septal defect	114049	BUD23	ORPHA:904
HP:0001631	Atrial septal defect	7458	EIF4H	ORPHA:904
HP:0001631	Atrial septal defect	84163	GTF2IRD2	ORPHA:904
HP:0001631	Atrial septal defect	9275	BCL7B	ORPHA:904
HP:0001631	Atrial septal defect	26608	TBL2	ORPHA:904
HP:0001631	Atrial septal defect	653361	NCF1	ORPHA:904
HP:0001631	Atrial septal defect	135886	TMEM270	ORPHA:904
HP:0001631	Atrial septal defect	51085	MLXIPL	ORPHA:904
HP:0001631	Atrial septal defect	51085	MLXIPL	OMIM:194050
HP:0001631	Atrial septal defect	9031	BAZ1B	ORPHA:904
HP:0001631	Atrial septal defect	2006	ELN	ORPHA:904
HP:0001631	Atrial septal defect	2006	ELN	OMIM:194050
HP:0001631	Atrial septal defect	84720	PIGO	OMIM:614749
HP:0001631	Atrial septal defect	6789	STK4	OMIM:614868
HP:0001631	Atrial septal defect	54499	TMCO1	OMIM:213980
HP:0001631	Atrial septal defect	55719	SLF2	OMIM:620184
HP:0001631	Atrial septal defect	10907	TXNL4A	OMIM:608572
HP:0001631	Atrial septal defect	51611	DPH5	OMIM:620070
HP:0001631	Atrial septal defect	79228	THOC6	ORPHA:363444
HP:0001631	Atrial septal defect	4089	SMAD4	OMIM:139210
HP:0001631	Atrial septal defect	57057	TBX20	OMIM:611363
HP:0001631	Atrial septal defect	182	JAG1	OMIM:118450
HP:0001631	Atrial septal defect	6605	SMARCE1	OMIM:616938
HP:0001631	Atrial septal defect	6605	SMARCE1	ORPHA:1465
HP:0001631	Atrial septal defect	388015	RTL1	ORPHA:96334
HP:0001631	Atrial septal defect	8788	DLK1	ORPHA:96334
HP:0001631	Atrial septal defect	55384	MEG3	ORPHA:96334
HP:0001631	Atrial septal defect	3911	LAMA5	OMIM:620076
HP:0001631	Atrial septal defect	10430	TMEM147	OMIM:620075
HP:0001631	Atrial septal defect	7355	SLC35A2	OMIM:300896
HP:0001631	Atrial septal defect	23483	TGDS	ORPHA:1388
HP:0001631	Atrial septal defect	4088	SMAD3	OMIM:613795
HP:0001631	Atrial septal defect	80184	CEP290	OMIM:611134
HP:0001631	Atrial septal defect	7048	TGFBR2	OMIM:610168
HP:0001631	Atrial septal defect	140628	GATA5	OMIM:617912
HP:0001631	Atrial septal defect	5824	PEX19	OMIM:614886
HP:0001631	Atrial septal defect	8195	MKKS	ORPHA:2473
HP:0001631	Atrial septal defect	51574	LARP7	ORPHA:319671
HP:0001631	Atrial septal defect	147372	CCBE1	OMIM:235510
HP:0001631	Atrial septal defect	50945	TBX22	ORPHA:921
HP:0001631	Atrial septal defect	84978	FRMD5	OMIM:620094
HP:0001631	Atrial septal defect	157570	ESCO2	OMIM:268300
HP:0001631	Atrial septal defect	171023	ASXL1	OMIM:605039
HP:0001631	Atrial septal defect	2317	FLNB	OMIM:150250
HP:0001631	Atrial septal defect	583	BBS2	OMIM:615981
HP:0001631	Atrial septal defect	2702	GJA5	OMIM:612474
HP:0001631	Atrial septal defect	2703	GJA8	OMIM:612474
HP:0001631	Atrial septal defect	55690	PACS1	ORPHA:329224
HP:0001631	Atrial septal defect	10664	CTCF	OMIM:615502
HP:0001631	Atrial septal defect	10664	CTCF	ORPHA:363611
HP:0001631	Atrial septal defect	196528	ARID2	OMIM:617808
HP:0001631	Atrial septal defect	196528	ARID2	ORPHA:1465
HP:0001631	Atrial septal defect	8243	SMC1A	OMIM:301044
HP:0001631	Atrial septal defect	8243	SMC1A	ORPHA:199
HP:0001631	Atrial septal defect	9780	PIEZO1	OMIM:616843
HP:0001631	Atrial septal defect	11020	IFT27	OMIM:615996
HP:0001631	Atrial septal defect	100151683	RNU4ATAC	OMIM:210710
HP:0001631	Atrial septal defect	5648	MASP1	OMIM:257920
HP:0001631	Atrial septal defect	23394	ADNP	OMIM:615873
HP:0001631	Atrial septal defect	57167	SALL4	OMIM:607323
HP:0001631	Atrial septal defect	2258	FGF13	OMIM:301058
HP:0001631	Atrial septal defect	57465	TBC1D24	OMIM:220500
HP:0001631	Atrial septal defect	113179	ADAT3	ORPHA:363528
HP:0001631	Atrial septal defect	3313	HSPA9	OMIM:616854
HP:0001631	Atrial septal defect	10370	CITED2	OMIM:614433
HP:0001631	Atrial septal defect	131118	DNAJC19	OMIM:610198
HP:0001631	Atrial septal defect	5447	POR	OMIM:207410
HP:0001631	Atrial septal defect	2263	FGFR2	OMIM:207410
HP:0001631	Atrial septal defect	10560	SLC19A2	ORPHA:49827
HP:0001631	Atrial septal defect	10560	SLC19A2	OMIM:249270
HP:0001631	Atrial septal defect	4297	KMT2A	OMIM:605130
HP:0001631	Atrial septal defect	7547	ZIC3	OMIM:306955
HP:0001631	Atrial septal defect	10265	IRX5	OMIM:611174
HP:0001631	Atrial septal defect	6598	SMARCB1	ORPHA:1465
HP:0001631	Atrial septal defect	6659	SOX4	ORPHA:1465
HP:0001631	Atrial septal defect	8289	ARID1A	ORPHA:1465
HP:0001631	Atrial septal defect	5977	DPF2	ORPHA:1465
HP:0001631	Atrial septal defect	6601	SMARCC2	ORPHA:1465
HP:0001631	Atrial septal defect	6602	SMARCD1	ORPHA:1465
HP:0001631	Atrial septal defect	6664	SOX11	ORPHA:1465
HP:0001631	Atrial septal defect	27315	PGAP2	OMIM:614207
HP:0001631	Atrial septal defect	5605	MAP2K2	ORPHA:1340
HP:0001631	Atrial septal defect	118856	MMP21	OMIM:616749
HP:0001631	Atrial septal defect	6606	SMN1	OMIM:253300
HP:0001631	Atrial septal defect	54806	AHI1	OMIM:608629
HP:0001631	Atrial septal defect	5422	POLA1	OMIM:301030
HP:0001631	Atrial septal defect	79576	NKAP	OMIM:301039
HP:0001631	Atrial septal defect	25	ABL1	OMIM:617602
HP:0001631	Atrial septal defect	57511	COG6	OMIM:614576
HP:0001631	Atrial septal defect	2260	FGFR1	OMIM:613001
HP:0001631	Atrial septal defect	23476	BRD4	ORPHA:199
HP:0001631	Atrial septal defect	25836	NIPBL	ORPHA:199
HP:0001631	Atrial septal defect	55869	HDAC8	ORPHA:199
HP:0001631	Atrial septal defect	5885	RAD21	ORPHA:199
HP:0001631	Atrial septal defect	6628	SNRPB	OMIM:117650
HP:0001631	Atrial septal defect	29957	SLC25A24	OMIM:612289
HP:0001631	Atrial septal defect	54880	BCOR	OMIM:300166
HP:0001631	Atrial septal defect	55617	TASP1	OMIM:618950
HP:0001631	Atrial septal defect	6857	SYT1	ORPHA:522077
HP:0001631	Atrial septal defect	10293	TRAIP	OMIM:616777
HP:0001631	Atrial septal defect	4780	NFE2L2	OMIM:617744
HP:0001631	Atrial septal defect	3832	KIF11	ORPHA:2526
HP:0001631	Atrial septal defect	5500	PPP1CB	OMIM:617506
HP:0001631	Atrial septal defect	93649	MYOCD	OMIM:618719
HP:0001631	Atrial septal defect	139285	AMER1	OMIM:300373
HP:0001631	Atrial septal defect	5296	PIK3R2	OMIM:603387
HP:0001631	Atrial septal defect	9786	KIAA0586	OMIM:616546
HP:0001631	Atrial septal defect	5116	PCNT	ORPHA:2637
HP:0001631	Atrial septal defect	4000	LMNA	ORPHA:1662
HP:0001631	Atrial septal defect	10269	ZMPSTE24	ORPHA:1662
HP:0001631	Atrial septal defect	10269	ZMPSTE24	OMIM:275210
HP:0001631	Atrial septal defect	8777	MPDZ	OMIM:615219
HP:0001631	Atrial septal defect	9439	MED23	OMIM:614249
HP:0001631	Atrial septal defect	9939	RBM8A	OMIM:274000
HP:0001631	Atrial septal defect	9451	EIF2AK3	ORPHA:1667
HP:0001631	Atrial septal defect	37	ACADVL	ORPHA:26793
HP:0001631	Atrial septal defect	9469	CHST3	OMIM:245600
HP:0001631	Atrial septal defect	26229	B3GAT3	OMIM:245600
HP:0001631	Atrial septal defect	7043	TGFB3	OMIM:615582
HP:0001631	Atrial septal defect	4281	MID1	ORPHA:2745
HP:0001631	Atrial septal defect	523	ATP6V1A	OMIM:617403
HP:0001631	Atrial septal defect	7372	UMPS	OMIM:258900
HP:0001631	Atrial septal defect	529	ATP6V1E1	OMIM:617402
HP:0001631	Atrial septal defect	84148	KAT8	OMIM:618974
HP:0001631	Atrial septal defect	100128908	CIROP	OMIM:619702
HP:0001631	Atrial septal defect	5781	PTPN11	OMIM:163950
HP:0001631	Atrial septal defect	9949	AMMECR1	OMIM:300990
HP:0001631	Atrial septal defect	7528	YY1	ORPHA:506358
HP:0001631	Atrial septal defect	7528	YY1	OMIM:617557
HP:0001631	Atrial septal defect	10735	STAG2	OMIM:301043
HP:0001631	Atrial septal defect	776	CACNA1D	OMIM:615474
HP:0001631	Atrial septal defect	54892	NCAPG2	OMIM:618460
HP:0001631	Atrial septal defect	8425	LTBP4	OMIM:613177
HP:0001631	Atrial septal defect	1024	CDK8	OMIM:618748
HP:0001631	Atrial septal defect	4091	SMAD6	OMIM:614823
HP:0001631	Atrial septal defect	10102	TSFM	OMIM:610505
HP:0001631	Atrial septal defect	27125	AFF4	ORPHA:444077
HP:0001631	Atrial septal defect	27125	AFF4	OMIM:616368
HP:0001631	Atrial septal defect	9578	CDC42BPB	OMIM:619841
HP:0001631	Atrial septal defect	29998	BICRA	OMIM:619325
HP:0001631	Atrial septal defect	51506	UFC1	OMIM:618076
HP:0001631	Atrial septal defect	6392	SDHD	OMIM:619167
HP:0001631	Atrial septal defect	473	RERE	OMIM:616975
HP:0001631	Atrial septal defect	23291	FBXW11	OMIM:618914
HP:0001631	Atrial septal defect	79158	GNPTAB	ORPHA:576
HP:0001631	Atrial septal defect	4001	LMNB1	OMIM:619179
HP:0001631	Atrial septal defect	51434	ANAPC7	OMIM:619699
HP:0001631	Atrial septal defect	5119	CHMP1A	OMIM:614961
HP:0001631	Atrial septal defect	51008	ASCC1	OMIM:616867
HP:0001631	Atrial septal defect	29940	DSE	OMIM:615539
HP:0001631	Atrial septal defect	23389	MED13L	ORPHA:369891
HP:0001631	Atrial septal defect	23389	MED13L	OMIM:616789
HP:0001631	Atrial septal defect	79087	ALG12	OMIM:607143
HP:0001631	Atrial septal defect	79087	ALG12	ORPHA:79324
HP:0001631	Atrial septal defect	23028	KDM1A	ORPHA:477993
HP:0001631	Atrial septal defect	1656	DDX6	OMIM:618653
HP:0001631	Atrial septal defect	1301	COL11A1	OMIM:228520
HP:0001631	Atrial septal defect	8802	SUCLG1	ORPHA:17
HP:0001631	Atrial septal defect	6638	SNRPN	ORPHA:177907
HP:0001631	Atrial septal defect	26227	PHGDH	OMIM:256520
HP:0001631	Atrial septal defect	6772	STAT1	ORPHA:391487
HP:0001631	Atrial septal defect	10043	TOM1	ORPHA:391487
HP:0001631	Atrial septal defect	1763	DNA2	OMIM:615156
HP:0001631	Atrial septal defect	11222	MRPL3	OMIM:614582
HP:0001631	Atrial septal defect	91461	PKDCC	OMIM:618821
HP:0001631	Atrial septal defect	10681	GNB5	OMIM:617182
HP:0001631	Atrial septal defect	10681	GNB5	ORPHA:542306
HP:0001631	Atrial septal defect	10651	MTX2	OMIM:619127
HP:0001631	Atrial septal defect	1857	DVL3	OMIM:616894
HP:0001631	Atrial septal defect	9739	SETD1A	OMIM:618832
HP:0001631	Atrial septal defect	7291	TWIST1	OMIM:617746
HP:0001631	Atrial septal defect	100506658	OCLN	OMIM:251290
HP:0001631	Atrial septal defect	79971	WLS	OMIM:619648
HP:0001631	Atrial septal defect	118924	FRA10AC1	OMIM:620113
HP:0001631	Atrial septal defect	6123	RPL3L	OMIM:619371
HP:0001631	Atrial septal defect	775	CACNA1C	OMIM:601005
HP:0001631	Atrial septal defect	89970	RSPRY1	ORPHA:457395
HP:0001631	Atrial septal defect	57479	PRR12	OMIM:619539
HP:0001631	Atrial septal defect	4851	NOTCH1	OMIM:616028
HP:0001631	Atrial septal defect	5879	RAC1	ORPHA:500159
HP:0001631	Atrial septal defect	8295	TRRAP	OMIM:618454
HP:0001631	Atrial septal defect	54101	RIPK4	OMIM:263650
HP:0001631	Atrial septal defect	7319	UBE2A	ORPHA:163956
HP:0001631	Atrial septal defect	699	BUB1	OMIM:620183
HP:0001631	Atrial septal defect	91949	COG7	OMIM:608779
HP:0001631	Atrial septal defect	8294	H4C9	OMIM:619951
HP:0001631	Atrial septal defect	29081	METTL5	OMIM:618665
HP:0001631	Atrial septal defect	7026	NR2F2	OMIM:618901
HP:0001631	Atrial septal defect	6135	RPL11	OMIM:612562
HP:0001631	Atrial septal defect	10765	KDM5B	OMIM:618109
HP:0001631	Atrial septal defect	132	ADK	OMIM:614300
HP:0001631	Atrial septal defect	5396	PRRX1	OMIM:202650
HP:0001631	Atrial septal defect	490	ATP2B1	OMIM:619910
HP:0001631	Atrial septal defect	2657	GDF1	OMIM:613854
HP:0001631	Atrial septal defect	8364	H4C3	OMIM:619758
HP:0001631	Atrial septal defect	1482	NKX2-5	OMIM:108900
HP:0001631	Atrial septal defect	11128	POLR3A	OMIM:264090
HP:0001631	Atrial septal defect	256297	PTF1A	OMIM:609069
HP:0001631	Atrial septal defect	83475	DOHH	OMIM:620066
HP:0001631	Atrial septal defect	55027	HEATR3	OMIM:620072
HP:0001631	Atrial septal defect	79759	ZNF668	OMIM:620194
HP:0001631	Atrial septal defect	285590	SH3PXD2B	OMIM:249420
HP:0001631	Atrial septal defect	6472	SHMT2	OMIM:619121
HP:0001631	Atrial septal defect	2627	GATA6	OMIM:614475
HP:0001631	Atrial septal defect	80055	PGAP1	OMIM:615802
HP:0001631	Atrial septal defect	471	ATIC	OMIM:608688
HP:0001631	Atrial septal defect	3417	IDH1	ORPHA:99646
HP:0001631	Atrial septal defect	4763	NF1	OMIM:601321
HP:0001631	Atrial septal defect	79989	IFT56	OMIM:619534
HP:0001631	Atrial septal defect	4624	MYH6	OMIM:614089
HP:0001631	Atrial septal defect	8260	NAA10	OMIM:300855
HP:0001631	Atrial septal defect	11274	USP18	OMIM:617397
HP:0001631	Atrial septal defect	7994	KAT6A	OMIM:616268
HP:0001631	Atrial septal defect	92579	G6PC3	OMIM:612541
HP:0001631	Atrial septal defect	439	GET3	OMIM:620203
HP:0001631	Atrial septal defect	9325	TRIP4	OMIM:616866
HP:0001631	Atrial septal defect	10079	ATP9A	OMIM:620242
HP:0001631	Atrial septal defect	6910	TBX5	OMIM:142900
HP:0001631	Atrial septal defect	4212	MEIS2	OMIM:600987
HP:0001631	Atrial septal defect	70	ACTC1	OMIM:612794
HP:0001631	Atrial septal defect	55636	CHD7	OMIM:214800
HP:0001631	Atrial septal defect	59336	PRDM13	OMIM:619909
HP:0001631	Atrial septal defect	25790	CFAP45	OMIM:619608
HP:0001631	Atrial septal defect	2072	ERCC4	OMIM:615272
HP:0001631	Atrial septal defect	2626	GATA4	OMIM:614430
HP:0001634	Mitral valve prolapse	64132	XYLT2	OMIM:605822
HP:0001634	Mitral valve prolapse	64132	XYLT2	OMIM:264800
HP:0001634	Mitral valve prolapse	2137	EXTL3	ORPHA:508533
HP:0001634	Mitral valve prolapse	57190	SELENON	ORPHA:324604
HP:0001634	Mitral valve prolapse	4625	MYH7	ORPHA:324604
HP:0001634	Mitral valve prolapse	7273	TTN	ORPHA:324604
HP:0001634	Mitral valve prolapse	8216	LZTR1	OMIM:616564
HP:0001634	Mitral valve prolapse	9158	FIBP	ORPHA:500095
HP:0001634	Mitral valve prolapse	9158	FIBP	OMIM:617107
HP:0001634	Mitral valve prolapse	8076	MFAP5	OMIM:616166
HP:0001634	Mitral valve prolapse	84627	ZNF469	OMIM:229200
HP:0001634	Mitral valve prolapse	84627	ZNF469	ORPHA:90354
HP:0001634	Mitral valve prolapse	7148	TNXB	ORPHA:230839
HP:0001634	Mitral valve prolapse	7148	TNXB	OMIM:606408
HP:0001634	Mitral valve prolapse	2972	BRF1	OMIM:616202
HP:0001634	Mitral valve prolapse	2972	BRF1	ORPHA:444072
HP:0001634	Mitral valve prolapse	23394	ADNP	OMIM:615873
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:314400
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:305620
HP:0001634	Mitral valve prolapse	2316	FLNA	ORPHA:555877
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:309350
HP:0001634	Mitral valve prolapse	5428	POLG	OMIM:258450
HP:0001634	Mitral valve prolapse	5428	POLG	OMIM:607459
HP:0001634	Mitral valve prolapse	2200	FBN1	ORPHA:284979
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:154700
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:604308
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:616914
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:614185
HP:0001634	Mitral valve prolapse	2200	FBN1	ORPHA:2462
HP:0001634	Mitral valve prolapse	10021	HCN4	OMIM:163800
HP:0001634	Mitral valve prolapse	55315	SLC29A3	OMIM:602782
HP:0001634	Mitral valve prolapse	4054	LTBP3	OMIM:601216
HP:0001634	Mitral valve prolapse	1278	COL1A2	ORPHA:230851
HP:0001634	Mitral valve prolapse	1278	COL1A2	OMIM:225320
HP:0001634	Mitral valve prolapse	2201	FBN2	OMIM:121050
HP:0001634	Mitral valve prolapse	2201	FBN2	ORPHA:115
HP:0001634	Mitral valve prolapse	10216	PRG4	ORPHA:2848
HP:0001634	Mitral valve prolapse	1281	COL3A1	OMIM:130050
HP:0001634	Mitral valve prolapse	1281	COL3A1	ORPHA:286
HP:0001634	Mitral valve prolapse	51726	DNAJB11	ORPHA:730
HP:0001634	Mitral valve prolapse	23193	GANAB	ORPHA:730
HP:0001634	Mitral valve prolapse	5310	PKD1	ORPHA:730
HP:0001634	Mitral valve prolapse	5310	PKD1	OMIM:173900
HP:0001634	Mitral valve prolapse	5311	PKD2	ORPHA:730
HP:0001634	Mitral valve prolapse	29880	ALG5	ORPHA:730
HP:0001634	Mitral valve prolapse	9742	IFT140	ORPHA:730
HP:0001634	Mitral valve prolapse	79796	ALG9	ORPHA:730
HP:0001634	Mitral valve prolapse	80114	BICC1	ORPHA:730
HP:0001634	Mitral valve prolapse	3074	HEXB	ORPHA:309155
HP:0001634	Mitral valve prolapse	2332	FMR1	ORPHA:449291
HP:0001634	Mitral valve prolapse	2332	FMR1	OMIM:300624
HP:0001634	Mitral valve prolapse	2332	FMR1	ORPHA:908
HP:0001634	Mitral valve prolapse	8642	DCHS1	OMIM:607829
HP:0001634	Mitral valve prolapse	84665	MYPN	ORPHA:171881
HP:0001634	Mitral valve prolapse	7169	TPM2	ORPHA:171881
HP:0001634	Mitral valve prolapse	7170	TPM3	ORPHA:171881
HP:0001634	Mitral valve prolapse	165	AEBP1	OMIM:618000
HP:0001634	Mitral valve prolapse	165	AEBP1	ORPHA:536532
HP:0001634	Mitral valve prolapse	54880	BCOR	ORPHA:2712
HP:0001634	Mitral valve prolapse	54880	BCOR	OMIM:300166
HP:0001634	Mitral valve prolapse	9968	MED12	ORPHA:93932
HP:0001634	Mitral valve prolapse	29940	DSE	OMIM:615539
HP:0001634	Mitral valve prolapse	5351	PLOD1	ORPHA:1900
HP:0001634	Mitral valve prolapse	54539	NDUFB11	ORPHA:2556
HP:0001634	Mitral valve prolapse	1349	COX7B	ORPHA:2556
HP:0001634	Mitral valve prolapse	3052	HCCS	ORPHA:2556
HP:0001634	Mitral valve prolapse	157680	VPS13B	OMIM:216550
HP:0001634	Mitral valve prolapse	157680	VPS13B	ORPHA:193
HP:0001634	Mitral valve prolapse	4313	MMP2	ORPHA:371428
HP:0001634	Mitral valve prolapse	4313	MMP2	OMIM:259600
HP:0001634	Mitral valve prolapse	4323	MMP14	ORPHA:371428
HP:0001634	Mitral valve prolapse	1277	COL1A1	ORPHA:287
HP:0001634	Mitral valve prolapse	1277	COL1A1	OMIM:166200
HP:0001634	Mitral valve prolapse	1289	COL5A1	ORPHA:287
HP:0001634	Mitral valve prolapse	1289	COL5A1	OMIM:130000
HP:0001634	Mitral valve prolapse	1290	COL5A2	ORPHA:287
HP:0001634	Mitral valve prolapse	3265	HRAS	ORPHA:3071
HP:0001634	Mitral valve prolapse	3265	HRAS	OMIM:218040
HP:0001634	Mitral valve prolapse	7703	PCGF2	OMIM:618371
HP:0001634	Mitral valve prolapse	56776	FMN2	OMIM:616193
HP:0001634	Mitral valve prolapse	26278	SACS	ORPHA:98
HP:0001634	Mitral valve prolapse	4763	NF1	ORPHA:363700
HP:0001634	Mitral valve prolapse	1193	CLIC2	ORPHA:324410
HP:0001634	Mitral valve prolapse	633	BGN	OMIM:300989
HP:0001634	Mitral valve prolapse	3188	HNRNPH2	OMIM:300986
HP:0001634	Mitral valve prolapse	1280	COL2A1	ORPHA:90653
HP:0001634	Mitral valve prolapse	1280	COL2A1	OMIM:108300
HP:0001634	Mitral valve prolapse	200734	SPRED2	OMIM:619745
HP:0001634	Mitral valve prolapse	4000	LMNA	ORPHA:79474
HP:0001634	Mitral valve prolapse	4089	SMAD4	OMIM:175050
HP:0001634	Mitral valve prolapse	6885	MAP3K7	ORPHA:3238
HP:0001634	Mitral valve prolapse	5337	PLD1	OMIM:212093
HP:0001634	Mitral valve prolapse	6261	RYR1	ORPHA:597
HP:0001634	Mitral valve prolapse	7450	VWF	OMIM:193400
HP:0001634	Mitral valve prolapse	10526	IPO8	OMIM:619472
HP:0001634	Mitral valve prolapse	1387	CREBBP	OMIM:180849
HP:0001634	Mitral valve prolapse	2033	EP300	OMIM:180849
HP:0001634	Mitral valve prolapse	6125	RPL5	OMIM:612561
HP:0001634	Mitral valve prolapse	3845	KRAS	OMIM:615278
HP:0001634	Mitral valve prolapse	3845	KRAS	OMIM:609942
HP:0001634	Mitral valve prolapse	6804	STX1A	ORPHA:904
HP:0001634	Mitral valve prolapse	7461	CLIP2	ORPHA:904
HP:0001634	Mitral valve prolapse	84277	DNAJC30	ORPHA:904
HP:0001634	Mitral valve prolapse	8468	FKBP6	ORPHA:904
HP:0001634	Mitral valve prolapse	5982	RFC2	ORPHA:904
HP:0001634	Mitral valve prolapse	2969	GTF2I	ORPHA:904
HP:0001634	Mitral valve prolapse	3984	LIMK1	ORPHA:904
HP:0001634	Mitral valve prolapse	9569	GTF2IRD1	ORPHA:904
HP:0001634	Mitral valve prolapse	155382	VPS37D	ORPHA:904
HP:0001634	Mitral valve prolapse	155368	METTL27	ORPHA:904
HP:0001634	Mitral valve prolapse	114049	BUD23	ORPHA:904
HP:0001634	Mitral valve prolapse	7458	EIF4H	ORPHA:904
HP:0001634	Mitral valve prolapse	84163	GTF2IRD2	ORPHA:904
HP:0001634	Mitral valve prolapse	9275	BCL7B	ORPHA:904
HP:0001634	Mitral valve prolapse	26608	TBL2	ORPHA:904
HP:0001634	Mitral valve prolapse	653361	NCF1	ORPHA:904
HP:0001634	Mitral valve prolapse	135886	TMEM270	ORPHA:904
HP:0001634	Mitral valve prolapse	9031	BAZ1B	ORPHA:904
HP:0001634	Mitral valve prolapse	285590	SH3PXD2B	ORPHA:137834
HP:0001634	Mitral valve prolapse	285590	SH3PXD2B	OMIM:249420
HP:0001634	Mitral valve prolapse	286	ANK1	ORPHA:251066
HP:0001634	Mitral valve prolapse	5781	PTPN11	ORPHA:500
HP:0001634	Mitral valve prolapse	5781	PTPN11	OMIM:151100
HP:0001634	Mitral valve prolapse	673	BRAF	ORPHA:500
HP:0001634	Mitral valve prolapse	5894	RAF1	ORPHA:500
HP:0001634	Mitral valve prolapse	113189	CHST14	OMIM:601776
HP:0001634	Mitral valve prolapse	368	ABCC6	OMIM:177850
HP:0001634	Mitral valve prolapse	368	ABCC6	OMIM:264800
HP:0001634	Mitral valve prolapse	368	ABCC6	ORPHA:758
HP:0001634	Mitral valve prolapse	64131	XYLT1	OMIM:264800
HP:0001634	Mitral valve prolapse	5594	MAPK1	OMIM:619087
HP:0001634	Mitral valve prolapse	10551	AGR2	OMIM:620233
HP:0001634	Mitral valve prolapse	11107	PRDM5	ORPHA:90354
HP:0001634	Mitral valve prolapse	6497	SKI	OMIM:182212
HP:0001634	Mitral valve prolapse	6497	SKI	ORPHA:2462
HP:0001634	Mitral valve prolapse	126792	B3GALT6	ORPHA:536467
HP:0001634	Mitral valve prolapse	4088	SMAD3	OMIM:613795
HP:0001634	Mitral valve prolapse	7048	TGFBR2	OMIM:610168
HP:0001634	Mitral valve prolapse	22873	DZIP1	OMIM:610840
HP:0001634	Mitral valve prolapse	6533	SLC6A6	OMIM:145350
HP:0001634	Mitral valve prolapse	875	CBS	OMIM:236200
HP:0001634	Mitral valve prolapse	9469	CHST3	OMIM:245600
HP:0001634	Mitral valve prolapse	26229	B3GAT3	OMIM:245600
HP:0001634	Mitral valve prolapse	56652	TWNK	OMIM:607459
HP:0001634	Mitral valve prolapse	4883	NPR3	OMIM:619543
HP:0001634	Mitral valve prolapse	529	ATP6V1E1	OMIM:617402
HP:0001634	Mitral valve prolapse	7046	TGFBR1	OMIM:609192
HP:0001634	Mitral valve prolapse	5167	ENPP1	ORPHA:758
HP:0001634	Mitral valve prolapse	161742	SPRED1	ORPHA:137605
HP:0001634	Mitral valve prolapse	7042	TGFB2	OMIM:614816
HP:0001634	Mitral valve prolapse	51085	MLXIPL	OMIM:194050
HP:0001634	Mitral valve prolapse	2006	ELN	OMIM:194050
HP:0001634	Mitral valve prolapse	23118	TAB2	OMIM:614980
HP:0001636	Tetralogy of Fallot	22827	PUF60	ORPHA:508498
HP:0001636	Tetralogy of Fallot	2294	FOXF1	OMIM:265380
HP:0001636	Tetralogy of Fallot	2294	FOXF1	ORPHA:210122
HP:0001636	Tetralogy of Fallot	137814	NKX2-6	ORPHA:3384
HP:0001636	Tetralogy of Fallot	137814	NKX2-6	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23129	PLXND1	ORPHA:3384
HP:0001636	Tetralogy of Fallot	10262	SF3B4	OMIM:154400
HP:0001636	Tetralogy of Fallot	123606	NIPA1	ORPHA:261183
HP:0001636	Tetralogy of Fallot	7283	TUBG1	ORPHA:261183
HP:0001636	Tetralogy of Fallot	81614	NIPA2	ORPHA:261183
HP:0001636	Tetralogy of Fallot	1024	CDK8	OMIM:618748
HP:0001636	Tetralogy of Fallot	100151683	RNU4ATAC	OMIM:210710
HP:0001636	Tetralogy of Fallot	23556	PIGN	ORPHA:2059
HP:0001636	Tetralogy of Fallot	5885	RAD21	OMIM:614701
HP:0001636	Tetralogy of Fallot	7355	SLC35A2	ORPHA:356961
HP:0001636	Tetralogy of Fallot	22800	RRAS2	OMIM:618624
HP:0001636	Tetralogy of Fallot	2657	GDF1	OMIM:613854
HP:0001636	Tetralogy of Fallot	2657	GDF1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2657	GDF1	OMIM:208530
HP:0001636	Tetralogy of Fallot	79813	EHMT1	ORPHA:96147
HP:0001636	Tetralogy of Fallot	10992	SF3B2	OMIM:164210
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	OMIM:108900
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	OMIM:187500
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:614429
HP:0001636	Tetralogy of Fallot	2626	GATA4	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2626	GATA4	ORPHA:251071
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:615542
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:187500
HP:0001636	Tetralogy of Fallot	1131	CHRM3	ORPHA:2970
HP:0001636	Tetralogy of Fallot	64220	STRA6	OMIM:601186
HP:0001636	Tetralogy of Fallot	2702	GJA5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23414	ZFPM2	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23414	ZFPM2	OMIM:187500
HP:0001636	Tetralogy of Fallot	3791	KDR	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2627	GATA6	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2627	GATA6	OMIM:600001
HP:0001636	Tetralogy of Fallot	2627	GATA6	ORPHA:2255
HP:0001636	Tetralogy of Fallot	2627	GATA6	OMIM:187500
HP:0001636	Tetralogy of Fallot	182	JAG1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:118450
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:187500
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:617992
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:567
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:188400
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:1727
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:192430
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:187500
HP:0001636	Tetralogy of Fallot	140628	GATA5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	140628	GATA5	OMIM:617912
HP:0001636	Tetralogy of Fallot	2324	FLT4	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2324	FLT4	OMIM:618780
HP:0001636	Tetralogy of Fallot	10370	CITED2	ORPHA:3303
HP:0001636	Tetralogy of Fallot	6299	SALL1	OMIM:107480
HP:0001636	Tetralogy of Fallot	6299	SALL1	ORPHA:857
HP:0001636	Tetralogy of Fallot	7490	WT1	ORPHA:3097
HP:0001636	Tetralogy of Fallot	7490	WT1	OMIM:608978
HP:0001636	Tetralogy of Fallot	8443	GNPAT	OMIM:222765
HP:0001636	Tetralogy of Fallot	1349	COX7B	OMIM:300887
HP:0001636	Tetralogy of Fallot	26275	HIBCH	ORPHA:88639
HP:0001636	Tetralogy of Fallot	26275	HIBCH	OMIM:250620
HP:0001636	Tetralogy of Fallot	2623	GATA1	OMIM:190685
HP:0001636	Tetralogy of Fallot	29998	BICRA	OMIM:619325
HP:0001636	Tetralogy of Fallot	83479	DDX59	OMIM:174300
HP:0001636	Tetralogy of Fallot	83479	DDX59	ORPHA:2919
HP:0001636	Tetralogy of Fallot	10847	SRCAP	ORPHA:2044
HP:0001636	Tetralogy of Fallot	23384	SPECC1L	ORPHA:1519
HP:0001636	Tetralogy of Fallot	5053	PAH	ORPHA:2209
HP:0001636	Tetralogy of Fallot	55636	CHD7	ORPHA:138
HP:0001636	Tetralogy of Fallot	55636	CHD7	OMIM:214800
HP:0001636	Tetralogy of Fallot	9723	SEMA3E	ORPHA:138
HP:0001636	Tetralogy of Fallot	2260	FGFR1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	28514	DLL1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2253	FGF8	ORPHA:280200
HP:0001636	Tetralogy of Fallot	6496	SIX3	ORPHA:280200
HP:0001636	Tetralogy of Fallot	7050	TGIF1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	4838	NODAL	ORPHA:280200
HP:0001636	Tetralogy of Fallot	6469	SHH	ORPHA:280200
HP:0001636	Tetralogy of Fallot	51684	SUFU	ORPHA:280200
HP:0001636	Tetralogy of Fallot	7546	ZIC2	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2619	GAS1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	84976	DISP1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2736	GLI2	ORPHA:280200
HP:0001636	Tetralogy of Fallot	8928	FOXH1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	5727	PTCH1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	50937	CDON	ORPHA:280200
HP:0001636	Tetralogy of Fallot	57492	ARID1B	OMIM:135900
HP:0001636	Tetralogy of Fallot	57492	ARID1B	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6597	SMARCA4	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6598	SMARCB1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6659	SOX4	ORPHA:1465
HP:0001636	Tetralogy of Fallot	8289	ARID1A	ORPHA:1465
HP:0001636	Tetralogy of Fallot	5977	DPF2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6601	SMARCC2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6602	SMARCD1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	196528	ARID2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6605	SMARCE1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6664	SOX11	ORPHA:1465
HP:0001636	Tetralogy of Fallot	1147	CHUK	OMIM:613630
HP:0001636	Tetralogy of Fallot	1108	CHD4	OMIM:617159
HP:0001636	Tetralogy of Fallot	7026	NR2F2	OMIM:615779
HP:0001636	Tetralogy of Fallot	64359	NXN	ORPHA:1507
HP:0001636	Tetralogy of Fallot	4920	ROR2	ORPHA:1507
HP:0001636	Tetralogy of Fallot	672	BRCA1	ORPHA:84
HP:0001636	Tetralogy of Fallot	10459	MAD2L2	ORPHA:84
HP:0001636	Tetralogy of Fallot	7516	XRCC2	ORPHA:84
HP:0001636	Tetralogy of Fallot	29089	UBE2T	ORPHA:84
HP:0001636	Tetralogy of Fallot	675	BRCA2	ORPHA:84
HP:0001636	Tetralogy of Fallot	55120	FANCL	ORPHA:84
HP:0001636	Tetralogy of Fallot	2177	FANCD2	ORPHA:84
HP:0001636	Tetralogy of Fallot	2175	FANCA	ORPHA:84
HP:0001636	Tetralogy of Fallot	2187	FANCB	ORPHA:84
HP:0001636	Tetralogy of Fallot	2176	FANCC	ORPHA:84
HP:0001636	Tetralogy of Fallot	2178	FANCE	ORPHA:84
HP:0001636	Tetralogy of Fallot	2188	FANCF	ORPHA:84
HP:0001636	Tetralogy of Fallot	2189	FANCG	ORPHA:84
HP:0001636	Tetralogy of Fallot	5888	RAD51	ORPHA:84
HP:0001636	Tetralogy of Fallot	5889	RAD51C	ORPHA:84
HP:0001636	Tetralogy of Fallot	55159	RFWD3	ORPHA:84
HP:0001636	Tetralogy of Fallot	83990	BRIP1	ORPHA:84
HP:0001636	Tetralogy of Fallot	57697	FANCM	ORPHA:84
HP:0001636	Tetralogy of Fallot	79728	PALB2	ORPHA:84
HP:0001636	Tetralogy of Fallot	84464	SLX4	ORPHA:84
HP:0001636	Tetralogy of Fallot	2072	ERCC4	ORPHA:84
HP:0001636	Tetralogy of Fallot	55215	FANCI	ORPHA:84
HP:0001636	Tetralogy of Fallot	1312	COMT	ORPHA:567
HP:0001636	Tetralogy of Fallot	221037	JMJD1C	ORPHA:567
HP:0001636	Tetralogy of Fallot	2812	GP1BB	ORPHA:567
HP:0001636	Tetralogy of Fallot	6239	RREB1	ORPHA:567
HP:0001636	Tetralogy of Fallot	7290	HIRA	ORPHA:567
HP:0001636	Tetralogy of Fallot	9632	SEC24C	ORPHA:567
HP:0001636	Tetralogy of Fallot	7353	UFD1	ORPHA:567
HP:0001636	Tetralogy of Fallot	421	ARVCF	ORPHA:567
HP:0001636	Tetralogy of Fallot	9839	ZEB2	ORPHA:261552
HP:0001636	Tetralogy of Fallot	9839	ZEB2	ORPHA:261537
HP:0001636	Tetralogy of Fallot	9896	FIG4	ORPHA:3472
HP:0001636	Tetralogy of Fallot	9896	FIG4	OMIM:216340
HP:0001636	Tetralogy of Fallot	55697	VAC14	ORPHA:3472
HP:0001636	Tetralogy of Fallot	7852	CXCR4	ORPHA:51636
HP:0001636	Tetralogy of Fallot	8550	MAPKAPK5	OMIM:619869
HP:0001636	Tetralogy of Fallot	57167	SALL4	ORPHA:959
HP:0001636	Tetralogy of Fallot	57167	SALL4	OMIM:147750
HP:0001636	Tetralogy of Fallot	9487	PIGL	ORPHA:3474
HP:0001636	Tetralogy of Fallot	9487	PIGL	OMIM:280000
HP:0001636	Tetralogy of Fallot	8241	RBM10	OMIM:311900
HP:0001636	Tetralogy of Fallot	8241	RBM10	ORPHA:2886
HP:0001636	Tetralogy of Fallot	23118	TAB2	OMIM:614980
HP:0001636	Tetralogy of Fallot	8092	ALX1	ORPHA:306542
HP:0001636	Tetralogy of Fallot	6135	RPL11	OMIM:612562
HP:0001636	Tetralogy of Fallot	6125	RPL5	OMIM:612561
HP:0001636	Tetralogy of Fallot	57514	ARHGAP31	OMIM:100300
HP:0001636	Tetralogy of Fallot	57514	ARHGAP31	ORPHA:974
HP:0001636	Tetralogy of Fallot	6804	STX1A	ORPHA:904
HP:0001636	Tetralogy of Fallot	7461	CLIP2	ORPHA:904
HP:0001636	Tetralogy of Fallot	84277	DNAJC30	ORPHA:904
HP:0001636	Tetralogy of Fallot	8468	FKBP6	ORPHA:904
HP:0001636	Tetralogy of Fallot	5982	RFC2	ORPHA:904
HP:0001636	Tetralogy of Fallot	2969	GTF2I	ORPHA:904
HP:0001636	Tetralogy of Fallot	3984	LIMK1	ORPHA:904
HP:0001636	Tetralogy of Fallot	9569	GTF2IRD1	ORPHA:904
HP:0001636	Tetralogy of Fallot	155382	VPS37D	ORPHA:904
HP:0001636	Tetralogy of Fallot	155368	METTL27	ORPHA:904
HP:0001636	Tetralogy of Fallot	114049	BUD23	ORPHA:904
HP:0001636	Tetralogy of Fallot	7458	EIF4H	ORPHA:904
HP:0001636	Tetralogy of Fallot	84163	GTF2IRD2	ORPHA:904
HP:0001636	Tetralogy of Fallot	9275	BCL7B	ORPHA:904
HP:0001636	Tetralogy of Fallot	26608	TBL2	ORPHA:904
HP:0001636	Tetralogy of Fallot	653361	NCF1	ORPHA:904
HP:0001636	Tetralogy of Fallot	135886	TMEM270	ORPHA:904
HP:0001636	Tetralogy of Fallot	51085	MLXIPL	ORPHA:904
HP:0001636	Tetralogy of Fallot	9031	BAZ1B	ORPHA:904
HP:0001636	Tetralogy of Fallot	2006	ELN	ORPHA:904
HP:0001636	Tetralogy of Fallot	5590	PRKCZ	ORPHA:1606
HP:0001636	Tetralogy of Fallot	2563	GABRD	ORPHA:1606
HP:0001636	Tetralogy of Fallot	23013	SPEN	ORPHA:1606
HP:0001636	Tetralogy of Fallot	8510	MMP23B	ORPHA:1606
HP:0001636	Tetralogy of Fallot	7798	LUZP1	ORPHA:1606
HP:0001636	Tetralogy of Fallot	6497	SKI	ORPHA:1606
HP:0001636	Tetralogy of Fallot	10630	PDPN	ORPHA:1606
HP:0001636	Tetralogy of Fallot	3339	HSPG2	ORPHA:1606
HP:0001636	Tetralogy of Fallot	10277	UBE4B	ORPHA:1606
HP:0001636	Tetralogy of Fallot	8514	KCNAB2	ORPHA:1606
HP:0001636	Tetralogy of Fallot	473	RERE	ORPHA:1606
HP:0001636	Tetralogy of Fallot	63976	PRDM16	ORPHA:1606
HP:0001636	Tetralogy of Fallot	54897	CASZ1	ORPHA:1606
HP:0001636	Tetralogy of Fallot	51715	RAB23	OMIM:201000
HP:0001636	Tetralogy of Fallot	3579	CXCR2	OMIM:619407
HP:0001636	Tetralogy of Fallot	2542	SLC37A4	OMIM:619525
HP:0001636	Tetralogy of Fallot	9772	TMEM94	OMIM:618316
HP:0001636	Tetralogy of Fallot	9993	DGCR2	OMIM:192430
HP:0001636	Tetralogy of Fallot	8220	ESS2	OMIM:192430
HP:0001636	Tetralogy of Fallot	8214	DGCR6	OMIM:192430
HP:0001636	Tetralogy of Fallot	54487	DGCR8	OMIM:192430
HP:0001636	Tetralogy of Fallot	51339	DACT1	ORPHA:857
HP:0001636	Tetralogy of Fallot	673	BRAF	OMIM:613707
HP:0001636	Tetralogy of Fallot	3516	RBPJ	ORPHA:974
HP:0001636	Tetralogy of Fallot	4851	NOTCH1	ORPHA:974
HP:0001636	Tetralogy of Fallot	4851	NOTCH1	OMIM:109730
HP:0001636	Tetralogy of Fallot	57572	DOCK6	ORPHA:974
HP:0001636	Tetralogy of Fallot	285203	EOGT	ORPHA:974
HP:0001636	Tetralogy of Fallot	54567	DLL4	ORPHA:974
HP:0001636	Tetralogy of Fallot	745	MYRF	OMIM:618280
HP:0001636	Tetralogy of Fallot	9897	WASHC5	OMIM:220210
HP:0001636	Tetralogy of Fallot	9897	WASHC5	ORPHA:7
HP:0001636	Tetralogy of Fallot	775	CACNA1C	OMIM:601005
HP:0001636	Tetralogy of Fallot	10084	PQBP1	OMIM:309500
HP:0001636	Tetralogy of Fallot	9652	SKIC3	OMIM:222470
HP:0001636	Tetralogy of Fallot	9652	SKIC3	ORPHA:84064
HP:0001636	Tetralogy of Fallot	1663	DDX11	OMIM:613398
HP:0001636	Tetralogy of Fallot	54916	TMEM260	OMIM:617478
HP:0001636	Tetralogy of Fallot	8195	MKKS	ORPHA:2473
HP:0001636	Tetralogy of Fallot	9939	RBM8A	ORPHA:3320
HP:0001636	Tetralogy of Fallot	9939	RBM8A	OMIM:274000
HP:0001636	Tetralogy of Fallot	4853	NOTCH2	OMIM:610205
HP:0001636	Tetralogy of Fallot	28952	CCDC22	ORPHA:7
HP:0001636	Tetralogy of Fallot	257	ALX3	OMIM:136760
HP:0001636	Tetralogy of Fallot	2303	FOXC2	OMIM:153400
HP:0001636	Tetralogy of Fallot	6499	SKIC2	ORPHA:84064
HP:0001636	Tetralogy of Fallot	27152	INTU	OMIM:617925
HP:0001636	Tetralogy of Fallot	27152	INTU	OMIM:617926
HP:0001636	Tetralogy of Fallot	7319	UBE2A	ORPHA:163956
HP:0001637	Abnormal myocardium morphology	10320	IKZF1	ORPHA:36426
HP:0001637	Abnormal myocardium morphology	2629	GBA1	ORPHA:77261
HP:0001637	Abnormal myocardium morphology	2629	GBA1	ORPHA:77259
HP:0001637	Abnormal myocardium morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001637	Abnormal myocardium morphology	950	SCARB2	ORPHA:77259
HP:0001637	Abnormal myocardium morphology	149233	IL23R	ORPHA:117
HP:0001637	Abnormal myocardium morphology	6775	STAT4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3586	IL10	ORPHA:117
HP:0001637	Abnormal myocardium morphology	1230	CCR1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	355	FAS	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3592	IL12A	ORPHA:117
HP:0001637	Abnormal myocardium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	7099	TLR4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3459	IFNGR1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	720	C4A	ORPHA:117
HP:0001637	Abnormal myocardium morphology	337867	UBAC2	ORPHA:117
HP:0001637	Abnormal myocardium morphology	51752	ERAP1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	8302	KLRC4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	OMIM:615352
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	ORPHA:363623
HP:0001637	Abnormal myocardium morphology	80308	FLAD1	OMIM:255100
HP:0001637	Abnormal myocardium morphology	1161	ERCC8	ORPHA:90324
HP:0001637	Abnormal myocardium morphology	2074	ERCC6	ORPHA:90324
HP:0001637	Abnormal myocardium morphology	246243	RNASEH1	ORPHA:329336
HP:0001637	Abnormal myocardium morphology	50717	DCAF8	OMIM:610100
HP:0001637	Abnormal myocardium morphology	2997	GYS1	OMIM:611556
HP:0001637	Abnormal myocardium morphology	4758	NEU1	OMIM:256550
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:399103
HP:0001637	Abnormal myocardium morphology	10324	KLHL41	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	10324	KLHL41	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	1352	COX10	OMIM:619046
HP:0001637	Abnormal myocardium morphology	25782	RAB3GAP2	OMIM:212720
HP:0001637	Abnormal myocardium morphology	30061	SLC40A1	OMIM:606069
HP:0001637	Abnormal myocardium morphology	3908	LAMA2	ORPHA:258
HP:0001637	Abnormal myocardium morphology	6023	RMRP	ORPHA:175
HP:0001637	Abnormal myocardium morphology	284058	KANSL1	ORPHA:363958
HP:0001637	Abnormal myocardium morphology	284058	KANSL1	ORPHA:363965
HP:0001637	Abnormal myocardium morphology	191	AHCY	OMIM:613752
HP:0001637	Abnormal myocardium morphology	191	AHCY	ORPHA:88618
HP:0001637	Abnormal myocardium morphology	3423	IDS	ORPHA:217085
HP:0001637	Abnormal myocardium morphology	3423	IDS	ORPHA:217093
HP:0001637	Abnormal myocardium morphology	8878	SQSTM1	ORPHA:603
HP:0001637	Abnormal myocardium morphology	7072	TIA1	ORPHA:603
HP:0001637	Abnormal myocardium morphology	9499	MYOT	OMIM:609200
HP:0001637	Abnormal myocardium morphology	9499	MYOT	ORPHA:98911
HP:0001637	Abnormal myocardium morphology	10020	GNE	ORPHA:602
HP:0001637	Abnormal myocardium morphology	5095	PCCA	OMIM:606054
HP:0001637	Abnormal myocardium morphology	5095	PCCA	ORPHA:35
HP:0001637	Abnormal myocardium morphology	5096	PCCB	OMIM:606054
HP:0001637	Abnormal myocardium morphology	5096	PCCB	ORPHA:35
HP:0001637	Abnormal myocardium morphology	10367	MICU1	ORPHA:401768
HP:0001637	Abnormal myocardium morphology	7466	WFS1	OMIM:222300
HP:0001637	Abnormal myocardium morphology	7466	WFS1	ORPHA:3463
HP:0001637	Abnormal myocardium morphology	9896	FIG4	ORPHA:3472
HP:0001637	Abnormal myocardium morphology	9896	FIG4	OMIM:216340
HP:0001637	Abnormal myocardium morphology	55697	VAC14	ORPHA:3472
HP:0001637	Abnormal myocardium morphology	2992	GYG1	ORPHA:263297
HP:0001637	Abnormal myocardium morphology	10352	WARS2	ORPHA:572798
HP:0001637	Abnormal myocardium morphology	10352	WARS2	OMIM:617710
HP:0001637	Abnormal myocardium morphology	3425	IDUA	OMIM:607014
HP:0001637	Abnormal myocardium morphology	3425	IDUA	ORPHA:93473
HP:0001637	Abnormal myocardium morphology	3425	IDUA	ORPHA:93476
HP:0001637	Abnormal myocardium morphology	788	SLC25A20	ORPHA:159
HP:0001637	Abnormal myocardium morphology	788	SLC25A20	OMIM:212138
HP:0001637	Abnormal myocardium morphology	10585	POMT1	OMIM:609308
HP:0001637	Abnormal myocardium morphology	10585	POMT1	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	10585	POMT1	ORPHA:86812
HP:0001637	Abnormal myocardium morphology	10585	POMT1	OMIM:613155
HP:0001637	Abnormal myocardium morphology	51594	NBAS	OMIM:616483
HP:0001637	Abnormal myocardium morphology	8239	USP9X	ORPHA:480880
HP:0001637	Abnormal myocardium morphology	3418	IDH2	OMIM:613657
HP:0001637	Abnormal myocardium morphology	773	CACNA1A	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	6507	SLC1A3	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	477	ATP1A2	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	478	ATP1A3	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	493856	CISD2	ORPHA:3463
HP:0001637	Abnormal myocardium morphology	56052	ALG1	ORPHA:79327
HP:0001637	Abnormal myocardium morphology	56052	ALG1	OMIM:608540
HP:0001637	Abnormal myocardium morphology	728294	D2HGDH	OMIM:600721
HP:0001637	Abnormal myocardium morphology	25973	PARS2	OMIM:618437
HP:0001637	Abnormal myocardium morphology	5191	PEX7	OMIM:614879
HP:0001637	Abnormal myocardium morphology	5191	PEX7	OMIM:266500
HP:0001637	Abnormal myocardium morphology	5191	PEX7	ORPHA:773
HP:0001637	Abnormal myocardium morphology	3178	HNRNPA1	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	7415	VCP	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	7415	VCP	ORPHA:329478
HP:0001637	Abnormal myocardium morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	OMIM:610717
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	ORPHA:565612
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	ORPHA:98908
HP:0001637	Abnormal myocardium morphology	2239	GPC4	ORPHA:373
HP:0001637	Abnormal myocardium morphology	2239	GPC4	OMIM:312870
HP:0001637	Abnormal myocardium morphology	2719	GPC3	ORPHA:373
HP:0001637	Abnormal myocardium morphology	2719	GPC3	OMIM:312870
HP:0001637	Abnormal myocardium morphology	1028	CDKN1C	OMIM:130650
HP:0001637	Abnormal myocardium morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001637	Abnormal myocardium morphology	3481	IGF2	OMIM:130650
HP:0001637	Abnormal myocardium morphology	3784	KCNQ1	OMIM:130650
HP:0001637	Abnormal myocardium morphology	654	BMP6	ORPHA:465508
HP:0001637	Abnormal myocardium morphology	3077	HFE	ORPHA:465508
HP:0001637	Abnormal myocardium morphology	3077	HFE	OMIM:235200
HP:0001637	Abnormal myocardium morphology	7169	TPM2	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	390594	KBTBD13	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	404672	GTF2H5	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	833	CARS1	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2068	ERCC2	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	7737	RNF113A	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	136647	MPLKIP	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	6897	TARS1	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2071	ERCC3	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2961	GTF2E2	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	3954	LETM1	OMIM:620089
HP:0001637	Abnormal myocardium morphology	10195	ALG3	ORPHA:79321
HP:0001637	Abnormal myocardium morphology	5256	PHKA2	ORPHA:264580
HP:0001637	Abnormal myocardium morphology	5261	PHKG2	ORPHA:264580
HP:0001637	Abnormal myocardium morphology	4594	MMUT	ORPHA:79312
HP:0001637	Abnormal myocardium morphology	4594	MMUT	OMIM:251000
HP:0001637	Abnormal myocardium morphology	2632	GBE1	OMIM:232500
HP:0001637	Abnormal myocardium morphology	81570	CLPB	ORPHA:445038
HP:0001637	Abnormal myocardium morphology	411	ARSB	OMIM:253200
HP:0001637	Abnormal myocardium morphology	7084	TK2	ORPHA:254886
HP:0001637	Abnormal myocardium morphology	3714	JAG2	OMIM:619566
HP:0001637	Abnormal myocardium morphology	5264	PHYH	OMIM:266500
HP:0001637	Abnormal myocardium morphology	5264	PHYH	ORPHA:773
HP:0001637	Abnormal myocardium morphology	3756	KCNH1	OMIM:135500
HP:0001637	Abnormal myocardium morphology	10560	SLC19A2	OMIM:249270
HP:0001637	Abnormal myocardium morphology	708	C1QBP	OMIM:617713
HP:0001637	Abnormal myocardium morphology	9325	TRIP4	OMIM:616866
HP:0001637	Abnormal myocardium morphology	2771	GNAI2	OMIM:192605
HP:0001637	Abnormal myocardium morphology	8425	LTBP4	ORPHA:98896
HP:0001637	Abnormal myocardium morphology	650	BMP2	OMIM:235200
HP:0001637	Abnormal myocardium morphology	51095	TRNT1	OMIM:616084
HP:0001637	Abnormal myocardium morphology	4576	MT-TT	ORPHA:254857
HP:0001637	Abnormal myocardium morphology	35	ACADS	OMIM:201470
HP:0001637	Abnormal myocardium morphology	35	ACADS	ORPHA:26792
HP:0001637	Abnormal myocardium morphology	3257	HPS1	OMIM:203300
HP:0001637	Abnormal myocardium morphology	3704	ITPA	OMIM:616647
HP:0001637	Abnormal myocardium morphology	3032	HADHB	ORPHA:746
HP:0001637	Abnormal myocardium morphology	7036	TFR2	OMIM:604250
HP:0001637	Abnormal myocardium morphology	84197	POMK	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	55624	POMGNT1	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	283459	GATC	OMIM:618839
HP:0001637	Abnormal myocardium morphology	55670	PEX26	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5824	PEX19	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5828	PEX2	ORPHA:772
HP:0001637	Abnormal myocardium morphology	8504	PEX3	ORPHA:772
HP:0001637	Abnormal myocardium morphology	9409	PEX16	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5190	PEX6	ORPHA:772
HP:0001637	Abnormal myocardium morphology	8799	PEX11B	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5830	PEX5	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5189	PEX1	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5193	PEX12	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5194	PEX13	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5195	PEX14	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5192	PEX10	ORPHA:772
HP:0001637	Abnormal myocardium morphology	178	AGL	OMIM:232400
HP:0001637	Abnormal myocardium morphology	51099	ABHD5	ORPHA:98907
HP:0001637	Abnormal myocardium morphology	2990	GUSB	OMIM:253220
HP:0001637	Abnormal myocardium morphology	84700	MYO18B	OMIM:616549
HP:0001637	Abnormal myocardium morphology	55005	RMND1	OMIM:614922
HP:0001637	Abnormal myocardium morphology	203859	ANO5	ORPHA:206549
HP:0001637	Abnormal myocardium morphology	1374	CPT1A	ORPHA:156
HP:0001637	Abnormal myocardium morphology	8243	SMC1A	OMIM:300590
HP:0001637	Abnormal myocardium morphology	10128	LRPPRC	OMIM:220111
HP:0001637	Abnormal myocardium morphology	10128	LRPPRC	ORPHA:70472
HP:0001637	Abnormal myocardium morphology	8036	SHOC2	OMIM:607721
HP:0001637	Abnormal myocardium morphology	8036	SHOC2	ORPHA:2701
HP:0001637	Abnormal myocardium morphology	51103	NDUFAF1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	51103	NDUFAF1	OMIM:618234
HP:0001637	Abnormal myocardium morphology	91942	NDUFAF2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	91942	NDUFAF2	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	51300	TIMMDC1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4716	NDUFB10	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4723	NDUFV1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4723	NDUFV1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	55572	FOXRED1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55572	FOXRED1	OMIM:618241
HP:0001637	Abnormal myocardium morphology	55572	FOXRED1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	284184	NDUFAF8	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55863	TMEM126B	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55863	TMEM126B	OMIM:618250
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2	OMIM:618229
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4694	NDUFA1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4726	NDUFS6	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4728	NDUFS8	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4728	NDUFS8	OMIM:618222
HP:0001637	Abnormal myocardium morphology	4728	NDUFS8	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4722	NDUFS3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4722	NDUFS3	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	79133	NDUFAF5	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	79133	NDUFAF5	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	126328	NDUFA11	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	126328	NDUFA11	OMIM:618236
HP:0001637	Abnormal myocardium morphology	4709	NDUFB3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	80224	NUBPL	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	29078	NDUFAF4	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	29078	NDUFAF4	OMIM:618237
HP:0001637	Abnormal myocardium morphology	374291	NDUFS7	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	374291	NDUFS7	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4700	NDUFA6	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4719	NDUFS1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4719	NDUFS1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4715	NDUFB9	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	26235	FBXL4	OMIM:615471
HP:0001637	Abnormal myocardium morphology	8216	LZTR1	OMIM:616564
HP:0001637	Abnormal myocardium morphology	8216	LZTR1	OMIM:605275
HP:0001637	Abnormal myocardium morphology	4570	MT-TN	OMIM:220110
HP:0001637	Abnormal myocardium morphology	55532	SLC30A10	ORPHA:309854
HP:0001637	Abnormal myocardium morphology	6016	RIT1	OMIM:615355
HP:0001637	Abnormal myocardium morphology	1355	COX15	OMIM:615119
HP:0001637	Abnormal myocardium morphology	1355	COX15	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:115150
HP:0001637	Abnormal myocardium morphology	673	BRAF	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	673	BRAF	ORPHA:500
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:613706
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:163950
HP:0001637	Abnormal myocardium morphology	25821	MTO1	OMIM:614702
HP:0001637	Abnormal myocardium morphology	84334	COA8	ORPHA:436271
HP:0001637	Abnormal myocardium morphology	54968	TMEM70	ORPHA:1194
HP:0001637	Abnormal myocardium morphology	54968	TMEM70	OMIM:614052
HP:0001637	Abnormal myocardium morphology	65082	VPS33A	OMIM:617303
HP:0001637	Abnormal myocardium morphology	65082	VPS33A	ORPHA:505248
HP:0001637	Abnormal myocardium morphology	3764	KCNJ8	ORPHA:1517
HP:0001637	Abnormal myocardium morphology	79158	GNPTAB	OMIM:252500
HP:0001637	Abnormal myocardium morphology	1340	COX6B1	OMIM:619051
HP:0001637	Abnormal myocardium morphology	84987	COX14	OMIM:619053
HP:0001637	Abnormal myocardium morphology	1757	SARDH	ORPHA:3129
HP:0001637	Abnormal myocardium morphology	5468	PPARG	ORPHA:79083
HP:0001637	Abnormal myocardium morphology	5468	PPARG	ORPHA:528
HP:0001637	Abnormal myocardium morphology	672	BRCA1	ORPHA:84
HP:0001637	Abnormal myocardium morphology	10459	MAD2L2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	7516	XRCC2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	29089	UBE2T	ORPHA:84
HP:0001637	Abnormal myocardium morphology	675	BRCA2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55120	FANCL	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2177	FANCD2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2175	FANCA	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2187	FANCB	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2176	FANCC	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2178	FANCE	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2188	FANCF	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2189	FANCG	ORPHA:84
HP:0001637	Abnormal myocardium morphology	5888	RAD51	ORPHA:84
HP:0001637	Abnormal myocardium morphology	5889	RAD51C	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55159	RFWD3	ORPHA:84
HP:0001637	Abnormal myocardium morphology	83990	BRIP1	ORPHA:84
HP:0001637	Abnormal myocardium morphology	57697	FANCM	ORPHA:84
HP:0001637	Abnormal myocardium morphology	79728	PALB2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	84464	SLX4	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2072	ERCC4	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55215	FANCI	ORPHA:84
HP:0001637	Abnormal myocardium morphology	83550	GPR101	ORPHA:963
HP:0001637	Abnormal myocardium morphology	9049	AIP	ORPHA:963
HP:0001637	Abnormal myocardium morphology	9049	AIP	ORPHA:99725
HP:0001637	Abnormal myocardium morphology	2626	GATA4	ORPHA:251071
HP:0001637	Abnormal myocardium morphology	1717	DHCR7	OMIM:270400
HP:0001637	Abnormal myocardium morphology	7274	TTPA	ORPHA:96
HP:0001637	Abnormal myocardium morphology	203286	ANKS6	OMIM:615382
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:363700
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:97685
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:638
HP:0001637	Abnormal myocardium morphology	7386	UQCRFS1	OMIM:618775
HP:0001637	Abnormal myocardium morphology	514	ATP5F1E	OMIM:614053
HP:0001637	Abnormal myocardium morphology	5500	PPP1CB	ORPHA:2701
HP:0001637	Abnormal myocardium morphology	5500	PPP1CB	OMIM:617506
HP:0001637	Abnormal myocardium morphology	200734	SPRED2	OMIM:619745
HP:0001637	Abnormal myocardium morphology	3265	HRAS	OMIM:218040
HP:0001637	Abnormal myocardium morphology	3265	HRAS	ORPHA:3071
HP:0001637	Abnormal myocardium morphology	65080	MRPL44	OMIM:615395
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	OMIM:300438
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	ORPHA:391457
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	ORPHA:391428
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	OMIM:615279
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	OMIM:163950
HP:0001637	Abnormal myocardium morphology	6804	STX1A	ORPHA:904
HP:0001637	Abnormal myocardium morphology	7461	CLIP2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	84277	DNAJC30	ORPHA:904
HP:0001637	Abnormal myocardium morphology	8468	FKBP6	ORPHA:904
HP:0001637	Abnormal myocardium morphology	5982	RFC2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	2969	GTF2I	ORPHA:904
HP:0001637	Abnormal myocardium morphology	3984	LIMK1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	9569	GTF2IRD1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	155382	VPS37D	ORPHA:904
HP:0001637	Abnormal myocardium morphology	155368	METTL27	ORPHA:904
HP:0001637	Abnormal myocardium morphology	114049	BUD23	ORPHA:904
HP:0001637	Abnormal myocardium morphology	7458	EIF4H	ORPHA:904
HP:0001637	Abnormal myocardium morphology	84163	GTF2IRD2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	9275	BCL7B	ORPHA:904
HP:0001637	Abnormal myocardium morphology	26608	TBL2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	653361	NCF1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	135886	TMEM270	ORPHA:904
HP:0001637	Abnormal myocardium morphology	51085	MLXIPL	ORPHA:904
HP:0001637	Abnormal myocardium morphology	9031	BAZ1B	ORPHA:904
HP:0001637	Abnormal myocardium morphology	2006	ELN	ORPHA:904
HP:0001637	Abnormal myocardium morphology	4556	MT-TE	ORPHA:225
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	ORPHA:496790
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	OMIM:618810
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	OMIM:617183
HP:0001637	Abnormal myocardium morphology	2548	GAA	ORPHA:308552
HP:0001637	Abnormal myocardium morphology	64135	IFIH1	OMIM:615846
HP:0001637	Abnormal myocardium morphology	64135	IFIH1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	4221	MEN1	ORPHA:99725
HP:0001637	Abnormal myocardium morphology	388015	RTL1	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	8788	DLK1	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	55384	MEG3	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	5373	PMM2	ORPHA:79318
HP:0001637	Abnormal myocardium morphology	2395	FXN	OMIM:229300
HP:0001637	Abnormal myocardium morphology	84833	ATP5MK	OMIM:618683
HP:0001637	Abnormal myocardium morphology	10661	KLF1	OMIM:613673
HP:0001637	Abnormal myocardium morphology	125988	MICOS13	OMIM:618329
HP:0001637	Abnormal myocardium morphology	2184	FAH	OMIM:276700
HP:0001637	Abnormal myocardium morphology	5836	PYGL	ORPHA:369
HP:0001637	Abnormal myocardium morphology	5837	PYGM	ORPHA:368
HP:0001637	Abnormal myocardium morphology	2010	EMD	ORPHA:98863
HP:0001637	Abnormal myocardium morphology	56246	MRAP	ORPHA:361
HP:0001637	Abnormal myocardium morphology	6770	STAR	ORPHA:361
HP:0001637	Abnormal myocardium morphology	4158	MC2R	ORPHA:361
HP:0001637	Abnormal myocardium morphology	23530	NNT	ORPHA:361
HP:0001637	Abnormal myocardium morphology	3845	KRAS	OMIM:600268
HP:0001637	Abnormal myocardium morphology	3845	KRAS	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	3845	KRAS	OMIM:609942
HP:0001637	Abnormal myocardium morphology	57505	AARS2	OMIM:614096
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	OMIM:151100
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	ORPHA:500
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	OMIM:163950
HP:0001637	Abnormal myocardium morphology	1892	ECHS1	OMIM:616277
HP:0001637	Abnormal myocardium morphology	1892	ECHS1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	51117	COQ4	OMIM:616276
HP:0001637	Abnormal myocardium morphology	51067	YARS2	OMIM:613561
HP:0001637	Abnormal myocardium morphology	58497	PRUNE1	ORPHA:544469
HP:0001637	Abnormal myocardium morphology	7351	UCP2	ORPHA:276556
HP:0001637	Abnormal myocardium morphology	6654	SOS1	OMIM:610733
HP:0001637	Abnormal myocardium morphology	10535	RNASEH2A	ORPHA:51
HP:0001637	Abnormal myocardium morphology	84153	RNASEH2C	ORPHA:51
HP:0001637	Abnormal myocardium morphology	25939	SAMHD1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	79621	RNASEH2B	ORPHA:51
HP:0001637	Abnormal myocardium morphology	103	ADAR	ORPHA:51
HP:0001637	Abnormal myocardium morphology	11277	TREX1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	100147744	RNU7-1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	134353	LSM11	ORPHA:51
HP:0001637	Abnormal myocardium morphology	1738	DLD	OMIM:246900
HP:0001637	Abnormal myocardium morphology	5250	SLC25A3	ORPHA:91130
HP:0001637	Abnormal myocardium morphology	5250	SLC25A3	OMIM:610773
HP:0001637	Abnormal myocardium morphology	55750	AGK	ORPHA:1369
HP:0001637	Abnormal myocardium morphology	55750	AGK	OMIM:212350
HP:0001637	Abnormal myocardium morphology	56945	MRPS22	OMIM:611719
HP:0001637	Abnormal myocardium morphology	4695	NDUFA2	OMIM:618235
HP:0001637	Abnormal myocardium morphology	4695	NDUFA2	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4893	NRAS	OMIM:613224
HP:0001637	Abnormal myocardium morphology	6833	ABCC8	ORPHA:276575
HP:0001637	Abnormal myocardium morphology	79068	FTO	OMIM:612938
HP:0001637	Abnormal myocardium morphology	3767	KCNJ11	ORPHA:276580
HP:0001637	Abnormal myocardium morphology	27235	COQ2	OMIM:607426
HP:0001637	Abnormal myocardium morphology	4705	NDUFA10	OMIM:618243
HP:0001637	Abnormal myocardium morphology	4705	NDUFA10	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	493753	COA5	OMIM:616500
HP:0001637	Abnormal myocardium morphology	5605	MAP2K2	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	5605	MAP2K2	ORPHA:638
HP:0001637	Abnormal myocardium morphology	284086	NEK8	OMIM:615415
HP:0001637	Abnormal myocardium morphology	2717	GLA	ORPHA:324
HP:0001637	Abnormal myocardium morphology	63931	MRPS14	OMIM:618378
HP:0001637	Abnormal myocardium morphology	22808	MRAS	OMIM:618499
HP:0001637	Abnormal myocardium morphology	8802	SUCLG1	ORPHA:17
HP:0001637	Abnormal myocardium morphology	7289	TULP3	OMIM:619902
HP:0001637	Abnormal myocardium morphology	128989	TANGO2	OMIM:616878
HP:0001637	Abnormal myocardium morphology	11019	LIAS	OMIM:614462
HP:0001637	Abnormal myocardium morphology	26580	BSCL2	OMIM:269700
HP:0001637	Abnormal myocardium morphology	26580	BSCL2	ORPHA:528
HP:0001637	Abnormal myocardium morphology	11222	MRPL3	OMIM:614582
HP:0001637	Abnormal myocardium morphology	3643	INSR	ORPHA:508
HP:0001637	Abnormal myocardium morphology	7167	TPI1	ORPHA:868
HP:0001637	Abnormal myocardium morphology	7040	TGFB1	ORPHA:1328
HP:0001637	Abnormal myocardium morphology	6472	SHMT2	OMIM:619121
HP:0001637	Abnormal myocardium morphology	60528	ELAC2	OMIM:615440
HP:0001637	Abnormal myocardium morphology	55278	QRSL1	OMIM:618835
HP:0001637	Abnormal myocardium morphology	202018	TAPT1	OMIM:616897
HP:0001637	Abnormal myocardium morphology	4976	OPA1	OMIM:616896
HP:0001637	Abnormal myocardium morphology	57570	TRMT5	OMIM:616539
HP:0001637	Abnormal myocardium morphology	617	BCS1L	OMIM:124000
HP:0001637	Abnormal myocardium morphology	80704	SLC19A3	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	55967	NDUFA12	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	51204	TACO1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	137682	NDUFAF6	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	5160	PDHA1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	100131801	PET100	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	123263	MTFMT	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	51079	NDUFA13	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	51601	LIPT1	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4697	NDUFA4	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4704	NDUFA9	ORPHA:255241
HP:0001637	Abnormal myocardium morphology	4668	NAGA	ORPHA:79281
HP:0001637	Abnormal myocardium morphology	4668	NAGA	ORPHA:79279
HP:0001637	Abnormal myocardium morphology	51684	SUFU	OMIM:617757
HP:0001637	Abnormal myocardium morphology	3593	IL12B	ORPHA:3287
HP:0001637	Abnormal myocardium morphology	3106	HLA-B	ORPHA:3287
HP:0001637	Abnormal myocardium morphology	6945	MLX	ORPHA:3287
HP:0001637	Abnormal myocardium morphology	10555	AGPAT2	ORPHA:528
HP:0001637	Abnormal myocardium morphology	284119	CAVIN1	ORPHA:528
HP:0001637	Abnormal myocardium morphology	2353	FOS	ORPHA:528
HP:0001637	Abnormal myocardium morphology	857	CAV1	ORPHA:528
HP:0001637	Abnormal myocardium morphology	84233	TMEM126A	OMIM:612989
HP:0001637	Abnormal myocardium morphology	129285	PPP1R21	OMIM:619383
HP:0001637	Abnormal myocardium morphology	9054	NFS1	OMIM:619386
HP:0001637	Abnormal myocardium morphology	523	ATP6V1A	OMIM:617403
HP:0001637	Abnormal myocardium morphology	96459	FNIP1	OMIM:619705
HP:0001637	Abnormal myocardium morphology	22868	FASTKD2	OMIM:618855
HP:0001637	Abnormal myocardium morphology	4713	NDUFB7	OMIM:620135
HP:0001637	Abnormal myocardium morphology	6584	SLC22A5	OMIM:212140
HP:0001637	Abnormal myocardium morphology	291	SLC25A4	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	5428	POLG	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	5428	POLG	ORPHA:70595
HP:0001637	Abnormal myocardium morphology	5428	POLG	OMIM:607459
HP:0001637	Abnormal myocardium morphology	56652	TWNK	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	56652	TWNK	ORPHA:70595
HP:0001637	Abnormal myocardium morphology	56652	TWNK	OMIM:607459
HP:0001637	Abnormal myocardium morphology	11232	POLG2	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	50484	RRM2B	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	3155	HMGCL	ORPHA:20
HP:0001637	Abnormal myocardium morphology	2218	FKTN	ORPHA:272
HP:0001637	Abnormal myocardium morphology	2218	FKTN	ORPHA:154
HP:0001637	Abnormal myocardium morphology	2218	FKTN	OMIM:611615
HP:0001637	Abnormal myocardium morphology	2218	FKTN	OMIM:253800
HP:0001637	Abnormal myocardium morphology	9015	TAF1A	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5663	PSEN1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5663	PSEN1	OMIM:613694
HP:0001637	Abnormal myocardium morphology	6389	SDHA	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6389	SDHA	OMIM:613642
HP:0001637	Abnormal myocardium morphology	6389	SDHA	OMIM:252011
HP:0001637	Abnormal myocardium morphology	7112	TMPO	ORPHA:154
HP:0001637	Abnormal myocardium morphology	9464	HAND2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	88	ACTN2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	88	ACTN2	OMIM:612158
HP:0001637	Abnormal myocardium morphology	10486	CAP2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	10060	ABCC9	ORPHA:154
HP:0001637	Abnormal myocardium morphology	10060	ABCC9	OMIM:608569
HP:0001637	Abnormal myocardium morphology	7168	TPM1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	7168	TPM1	OMIM:611878
HP:0001637	Abnormal myocardium morphology	7414	VCL	ORPHA:154
HP:0001637	Abnormal myocardium morphology	7414	VCL	OMIM:611407
HP:0001637	Abnormal myocardium morphology	1832	DSP	ORPHA:154
HP:0001637	Abnormal myocardium morphology	1832	DSP	OMIM:615821
HP:0001637	Abnormal myocardium morphology	1832	DSP	OMIM:605676
HP:0001637	Abnormal myocardium morphology	1832	DSP	ORPHA:65282
HP:0001637	Abnormal myocardium morphology	27063	ANKRD1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	8048	CSRP3	ORPHA:154
HP:0001637	Abnormal myocardium morphology	8048	CSRP3	OMIM:607482
HP:0001637	Abnormal myocardium morphology	1410	CRYAB	ORPHA:154
HP:0001637	Abnormal myocardium morphology	1410	CRYAB	OMIM:615184
HP:0001637	Abnormal myocardium morphology	1829	DSG2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	1829	DSG2	OMIM:612877
HP:0001637	Abnormal myocardium morphology	3910	LAMA4	ORPHA:154
HP:0001637	Abnormal myocardium morphology	3910	LAMA4	OMIM:615235
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	ORPHA:154
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	OMIM:615373
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	7273	TTN	ORPHA:154
HP:0001637	Abnormal myocardium morphology	7273	TTN	OMIM:604145
HP:0001637	Abnormal myocardium morphology	7273	TTN	OMIM:611705
HP:0001637	Abnormal myocardium morphology	10587	TXNRD2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5350	PLN	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5350	PLN	OMIM:609909
HP:0001637	Abnormal myocardium morphology	91624	NEXN	ORPHA:154
HP:0001637	Abnormal myocardium morphology	91624	NEXN	OMIM:613122
HP:0001637	Abnormal myocardium morphology	79717	PPCS	ORPHA:154
HP:0001637	Abnormal myocardium morphology	79717	PPCS	OMIM:618189
HP:0001637	Abnormal myocardium morphology	5664	PSEN2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5664	PSEN2	OMIM:613697
HP:0001637	Abnormal myocardium morphology	9529	BAG5	ORPHA:154
HP:0001637	Abnormal myocardium morphology	9529	BAG5	OMIM:619747
HP:0001637	Abnormal myocardium morphology	4607	MYBPC3	ORPHA:154
HP:0001637	Abnormal myocardium morphology	4607	MYBPC3	OMIM:615396
HP:0001637	Abnormal myocardium morphology	282996	RBM20	ORPHA:154
HP:0001637	Abnormal myocardium morphology	282996	RBM20	OMIM:613172
HP:0001637	Abnormal myocardium morphology	11155	LDB3	ORPHA:154
HP:0001637	Abnormal myocardium morphology	11155	LDB3	OMIM:601493
HP:0001637	Abnormal myocardium morphology	2274	FHL2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6901	TAFAZZIN	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6901	TAFAZZIN	ORPHA:111
HP:0001637	Abnormal myocardium morphology	6901	TAFAZZIN	OMIM:302060
HP:0001637	Abnormal myocardium morphology	5894	RAF1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5894	RAF1	OMIM:615916
HP:0001637	Abnormal myocardium morphology	1756	DMD	ORPHA:154
HP:0001637	Abnormal myocardium morphology	1756	DMD	OMIM:310200
HP:0001637	Abnormal myocardium morphology	1756	DMD	OMIM:302045
HP:0001637	Abnormal myocardium morphology	1756	DMD	ORPHA:206546
HP:0001637	Abnormal myocardium morphology	57798	GATAD1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	57798	GATAD1	OMIM:614672
HP:0001637	Abnormal myocardium morphology	6444	SGCD	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6444	SGCD	OMIM:606685
HP:0001637	Abnormal myocardium morphology	6331	SCN5A	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6331	SCN5A	OMIM:601154
HP:0001637	Abnormal myocardium morphology	8557	TCAP	ORPHA:154
HP:0001637	Abnormal myocardium morphology	2070	EYA4	ORPHA:217622
HP:0001637	Abnormal myocardium morphology	2070	EYA4	OMIM:605362
HP:0001637	Abnormal myocardium morphology	3033	HADH	OMIM:231530
HP:0001637	Abnormal myocardium morphology	3033	HADH	ORPHA:71212
HP:0001637	Abnormal myocardium morphology	23417	MLYCD	OMIM:248360
HP:0001637	Abnormal myocardium morphology	57122	NUP107	OMIM:618348
HP:0001637	Abnormal myocardium morphology	57122	NUP107	OMIM:616730
HP:0001637	Abnormal myocardium morphology	148738	HJV	OMIM:602390
HP:0001637	Abnormal myocardium morphology	148738	HJV	ORPHA:79230
HP:0001637	Abnormal myocardium morphology	6442	SGCA	OMIM:608099
HP:0001637	Abnormal myocardium morphology	3909	LAMA3	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	3918	LAMC2	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	3914	LAMB3	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	1120	CHKB	OMIM:602541
HP:0001637	Abnormal myocardium morphology	4536	MT-ND2	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4537	MT-ND3	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4577	MT-TV	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4508	MT-ATP6	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4566	MT-TK	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4566	MT-TK	ORPHA:1349
HP:0001637	Abnormal myocardium morphology	4312	MMP1	ORPHA:79408
HP:0001637	Abnormal myocardium morphology	1294	COL7A1	ORPHA:79408
HP:0001637	Abnormal myocardium morphology	1294	COL7A1	ORPHA:89842
HP:0001637	Abnormal myocardium morphology	197131	UBR1	OMIM:243800
HP:0001637	Abnormal myocardium morphology	92667	MGME1	OMIM:615084
HP:0001637	Abnormal myocardium morphology	92667	MGME1	ORPHA:352447
HP:0001637	Abnormal myocardium morphology	55182	RNF220	OMIM:619688
HP:0001637	Abnormal myocardium morphology	1376	CPT2	OMIM:600649
HP:0001637	Abnormal myocardium morphology	1376	CPT2	OMIM:608836
HP:0001637	Abnormal myocardium morphology	27034	ACAD8	OMIM:611283
HP:0001637	Abnormal myocardium morphology	27034	ACAD8	ORPHA:79159
HP:0001637	Abnormal myocardium morphology	6392	SDHD	OMIM:619167
HP:0001637	Abnormal myocardium morphology	131118	DNAJC19	OMIM:610198
HP:0001637	Abnormal myocardium morphology	131118	DNAJC19	ORPHA:66634
HP:0001637	Abnormal myocardium morphology	6443	SGCB	OMIM:604286
HP:0001637	Abnormal myocardium morphology	7015	TERT	OMIM:613989
HP:0001637	Abnormal myocardium morphology	54344	DPM3	OMIM:612937
HP:0001637	Abnormal myocardium morphology	54344	DPM3	ORPHA:263494
HP:0001637	Abnormal myocardium morphology	79147	FKRP	OMIM:607155
HP:0001637	Abnormal myocardium morphology	79147	FKRP	ORPHA:34515
HP:0001637	Abnormal myocardium morphology	58528	RRAGD	OMIM:620152
HP:0001637	Abnormal myocardium morphology	513	ATP5F1D	OMIM:618120
HP:0001637	Abnormal myocardium morphology	50619	DEF6	OMIM:619573
HP:0001637	Abnormal myocardium morphology	26007	TKFC	OMIM:618805
HP:0001637	Abnormal myocardium morphology	10616	RBCK1	OMIM:615895
HP:0001637	Abnormal myocardium morphology	79184	BRCC3	ORPHA:280679
HP:0001637	Abnormal myocardium morphology	4210	MEFV	ORPHA:3243
HP:0001637	Abnormal myocardium morphology	4210	MEFV	OMIM:608068
HP:0001637	Abnormal myocardium morphology	7840	ALMS1	OMIM:203800
HP:0001637	Abnormal myocardium morphology	7840	ALMS1	ORPHA:64
HP:0001637	Abnormal myocardium morphology	29967	LRP12	OMIM:164310
HP:0001637	Abnormal myocardium morphology	23522	KAT6B	OMIM:603736
HP:0001637	Abnormal myocardium morphology	7156	TOP3A	OMIM:618097
HP:0001637	Abnormal myocardium morphology	84705	GTPBP3	OMIM:616198
HP:0001637	Abnormal myocardium morphology	7170	TPM3	OMIM:255310
HP:0001637	Abnormal myocardium morphology	51086	TNNI3K	OMIM:616117
HP:0001637	Abnormal myocardium morphology	8884	SLC5A6	OMIM:619903
HP:0001637	Abnormal myocardium morphology	388962	BOLA3	OMIM:614299
HP:0001637	Abnormal myocardium morphology	23230	VPS13A	ORPHA:2388
HP:0001637	Abnormal myocardium morphology	57817	HAMP	ORPHA:79230
HP:0001637	Abnormal myocardium morphology	28976	ACAD9	ORPHA:99901
HP:0001637	Abnormal myocardium morphology	28976	ACAD9	OMIM:611126
HP:0001637	Abnormal myocardium morphology	3043	HBB	ORPHA:231214
HP:0001637	Abnormal myocardium morphology	3043	HBB	ORPHA:231226
HP:0001637	Abnormal myocardium morphology	10290	SPEG	OMIM:615959
HP:0001637	Abnormal myocardium morphology	5590	PRKCZ	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	2563	GABRD	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	23013	SPEN	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	8510	MMP23B	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	7798	LUZP1	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	6497	SKI	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	10630	PDPN	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	3339	HSPG2	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	10277	UBE4B	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	8514	KCNAB2	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	473	RERE	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	54897	CASZ1	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	81031	SLC2A10	ORPHA:3342
HP:0001637	Abnormal myocardium morphology	6262	RYR2	OMIM:604772
HP:0001637	Abnormal myocardium morphology	845	CASQ2	OMIM:604772
HP:0001637	Abnormal myocardium morphology	10345	TRDN	OMIM:604772
HP:0001637	Abnormal myocardium morphology	58	ACTA1	OMIM:161800
HP:0001637	Abnormal myocardium morphology	25915	NDUFAF3	ORPHA:70474
HP:0001637	Abnormal myocardium morphology	4714	NDUFB8	ORPHA:70474
HP:0001637	Abnormal myocardium morphology	4720	NDUFS2	ORPHA:70474
HP:0001637	Abnormal myocardium morphology	9997	SCO2	ORPHA:70474
HP:0001637	Abnormal myocardium morphology	6834	SURF1	ORPHA:70474
HP:0001637	Abnormal myocardium morphology	111	ADCY5	OMIM:606703
HP:0001637	Abnormal myocardium morphology	111	ADCY5	ORPHA:324588
HP:0001637	Abnormal myocardium morphology	7504	XK	OMIM:300842
HP:0001637	Abnormal myocardium morphology	29123	ANKRD11	ORPHA:261250
HP:0001637	Abnormal myocardium morphology	51816	ADA2	OMIM:615688
HP:0001637	Abnormal myocardium morphology	2273	FHL1	OMIM:300718
HP:0001637	Abnormal myocardium morphology	3030	HADHA	OMIM:609015
HP:0001637	Abnormal myocardium morphology	2065	ERBB3	OMIM:607598
HP:0001637	Abnormal myocardium morphology	57158	JPH2	OMIM:619492
HP:0001637	Abnormal myocardium morphology	57724	EPG5	OMIM:242840
HP:0001637	Abnormal myocardium morphology	55739	NAXD	OMIM:618321
HP:0001637	Abnormal myocardium morphology	442721	LMOD2	OMIM:619897
HP:0001637	Abnormal myocardium morphology	7518	XRCC4	OMIM:616541
HP:0001637	Abnormal myocardium morphology	2720	GLB1	OMIM:230500
HP:0001637	Abnormal myocardium morphology	5236	PGM1	OMIM:614921
HP:0001637	Abnormal myocardium morphology	25974	MMACHC	ORPHA:79282
HP:0001637	Abnormal myocardium morphology	140628	GATA5	OMIM:617912
HP:0001637	Abnormal myocardium morphology	7716	VEZF1	OMIM:620247
HP:0001637	Abnormal myocardium morphology	6533	SLC6A6	OMIM:145350
HP:0001637	Abnormal myocardium morphology	55679	LIMS2	OMIM:616827
HP:0001637	Abnormal myocardium morphology	29954	POMT2	ORPHA:206559
HP:0001637	Abnormal myocardium morphology	37	ACADVL	ORPHA:26793
HP:0001637	Abnormal myocardium morphology	583	BBS2	OMIM:615981
HP:0001637	Abnormal myocardium morphology	3762	KCNJ5	ORPHA:37553
HP:0001637	Abnormal myocardium morphology	3759	KCNJ2	ORPHA:37553
HP:0001637	Abnormal myocardium morphology	79188	TMEM43	ORPHA:98853
HP:0001637	Abnormal myocardium morphology	23345	SYNE1	ORPHA:98853
HP:0001637	Abnormal myocardium morphology	23224	SYNE2	ORPHA:98853
HP:0001637	Abnormal myocardium morphology	4633	MYL2	OMIM:608758
HP:0001637	Abnormal myocardium morphology	54800	KLHL24	OMIM:620236
HP:0001637	Abnormal myocardium morphology	6448	SGSH	OMIM:252900
HP:0001637	Abnormal myocardium morphology	138050	HGSNAT	OMIM:252930
HP:0001637	Abnormal myocardium morphology	4669	NAGLU	OMIM:252920
HP:0001637	Abnormal myocardium morphology	4624	MYH6	OMIM:192600
HP:0001637	Abnormal myocardium morphology	859	CAV3	OMIM:192600
HP:0001637	Abnormal myocardium morphology	85366	MYLK2	OMIM:192600
HP:0001637	Abnormal myocardium morphology	2799	GNS	OMIM:252940
HP:0001637	Abnormal myocardium morphology	51778	MYOZ2	OMIM:613838
HP:0001637	Abnormal myocardium morphology	51422	PRKAG2	OMIM:600858
HP:0001637	Abnormal myocardium morphology	5054	SERPINE1	ORPHA:465
HP:0001637	Abnormal myocardium morphology	4591	TRIM37	OMIM:253250
HP:0001637	Abnormal myocardium morphology	3920	LAMP2	OMIM:300257
HP:0001637	Abnormal myocardium morphology	51119	SBDS	OMIM:260400
HP:0001637	Abnormal myocardium morphology	134218	DNAJC21	OMIM:260400
HP:0001637	Abnormal myocardium morphology	6729	SRP54	OMIM:260400
HP:0001637	Abnormal myocardium morphology	64131	XYLT1	OMIM:264800
HP:0001637	Abnormal myocardium morphology	64132	XYLT2	OMIM:264800
HP:0001637	Abnormal myocardium morphology	368	ABCC6	OMIM:264800
HP:0001637	Abnormal myocardium morphology	368	ABCC6	ORPHA:758
HP:0001637	Abnormal myocardium morphology	55388	MCM10	OMIM:619313
HP:0001637	Abnormal myocardium morphology	1062	CENPE	OMIM:616051
HP:0001637	Abnormal myocardium morphology	51604	PIGT	OMIM:615398
HP:0001637	Abnormal myocardium morphology	51604	PIGT	ORPHA:369837
HP:0001637	Abnormal myocardium morphology	2316	FLNA	ORPHA:88630
HP:0001637	Abnormal myocardium morphology	7276	TTR	ORPHA:85451
HP:0001637	Abnormal myocardium morphology	5167	ENPP1	ORPHA:758
HP:0001637	Abnormal myocardium morphology	5156	PDGFRA	OMIM:607685
HP:0001637	Abnormal myocardium morphology	9531	BAG3	OMIM:612954
HP:0001637	Abnormal myocardium morphology	4634	MYL3	OMIM:608751
HP:0001637	Abnormal myocardium morphology	2038	EPB42	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6521	SLC4A1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6710	SPTB	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6708	SPTA1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	286	ANK1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	1349	COX7B	OMIM:309801
HP:0001637	Abnormal myocardium morphology	3052	HCCS	OMIM:309801
HP:0001637	Abnormal myocardium morphology	54539	NDUFB11	OMIM:309801
HP:0001637	Abnormal myocardium morphology	54539	NDUFB11	OMIM:300952
HP:0001637	Abnormal myocardium morphology	4724	NDUFS4	OMIM:252010
HP:0001637	Abnormal myocardium morphology	7134	TNNC1	OMIM:613243
HP:0001637	Abnormal myocardium morphology	1674	DES	ORPHA:98909
HP:0001637	Abnormal myocardium morphology	1201	CLN3	OMIM:204200
HP:0001637	Abnormal myocardium morphology	57538	ALPK3	OMIM:618052
HP:0001637	Abnormal myocardium morphology	4558	MT-TF	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4572	MT-TQ	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4512	MT-CO1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4513	MT-CO2	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4514	MT-CO3	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4578	MT-TW	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4540	MT-ND5	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4541	MT-ND6	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4535	MT-ND1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4538	MT-ND4	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4567	MT-TL1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4574	MT-TS1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4575	MT-TS2	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4564	MT-TH	ORPHA:550
HP:0001637	Abnormal myocardium morphology	80206	FHOD3	OMIM:619402
HP:0001637	Abnormal myocardium morphology	10102	TSFM	OMIM:610505
HP:0001637	Abnormal myocardium morphology	5318	PKP2	OMIM:609040
HP:0001637	Abnormal myocardium morphology	1824	DSC2	OMIM:610476
HP:0001637	Abnormal myocardium morphology	7043	TGFB3	OMIM:107970
HP:0001637	Abnormal myocardium morphology	54675	CRLS1	OMIM:620167
HP:0001637	Abnormal myocardium morphology	93649	MYOCD	OMIM:618719
HP:0001637	Abnormal myocardium morphology	135	ADORA2A	ORPHA:363549
HP:0001637	Abnormal myocardium morphology	6390	SDHB	ORPHA:3208
HP:0001637	Abnormal myocardium morphology	644096	SDHAF1	ORPHA:3208
HP:0001637	Abnormal myocardium morphology	114803	MYSM1	ORPHA:508542
HP:0001637	Abnormal myocardium morphology	1837	DTNA	OMIM:604169
HP:0001637	Abnormal myocardium morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001637	Abnormal myocardium morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001637	Abnormal myocardium morphology	7428	VHL	ORPHA:892
HP:0001637	Abnormal myocardium morphology	595	CCND1	ORPHA:892
HP:0001637	Abnormal myocardium morphology	2879	GPX4	ORPHA:93317
HP:0001637	Abnormal myocardium morphology	2879	GPX4	OMIM:250220
HP:0001637	Abnormal myocardium morphology	27068	PPA2	OMIM:617222
HP:0001637	Abnormal myocardium morphology	3662	IRF4	ORPHA:3452
HP:0001637	Abnormal myocardium morphology	10021	HCN4	OMIM:163800
HP:0001637	Abnormal myocardium morphology	57534	MIB1	OMIM:615092
HP:0001637	Abnormal myocardium morphology	4841	NONO	OMIM:300967
HP:0001637	Abnormal myocardium morphology	805	CALM2	OMIM:616249
HP:0001637	Abnormal myocardium morphology	4285	MIPEP	OMIM:617228
HP:0001637	Abnormal myocardium morphology	388753	COA6	OMIM:616501
HP:0001637	Abnormal myocardium morphology	57176	VARS2	OMIM:615917
HP:0001637	Abnormal myocardium morphology	2934	GSN	OMIM:105120
HP:0001637	Abnormal myocardium morphology	567	B2M	ORPHA:314652
HP:0001637	Abnormal myocardium morphology	3728	JUP	OMIM:601214
HP:0001637	Abnormal myocardium morphology	23676	SMPX	OMIM:301075
HP:0001637	Abnormal myocardium morphology	4000	LMNA	OMIM:181350
HP:0001637	Abnormal myocardium morphology	6123	RPL3L	OMIM:619371
HP:0001637	Abnormal myocardium morphology	70	ACTC1	OMIM:613424
HP:0001637	Abnormal myocardium morphology	4625	MYH7	OMIM:613426
HP:0001637	Abnormal myocardium morphology	84665	MYPN	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	2318	FLNC	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	7139	TNNT2	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	7137	TNNI3	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	10112	KIF20A	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	22845	DOLK	ORPHA:91131
HP:0001637	Abnormal myocardium morphology	2702	GJA5	OMIM:108770
HP:0001637	Abnormal myocardium morphology	4878	NPPA	OMIM:615745
HP:0001638	Cardiomyopathy	29925	GMPPB	OMIM:615352
HP:0001638	Cardiomyopathy	29925	GMPPB	ORPHA:370959
HP:0001638	Cardiomyopathy	29925	GMPPB	ORPHA:363623
HP:0001638	Cardiomyopathy	80308	FLAD1	OMIM:255100
HP:0001638	Cardiomyopathy	1161	ERCC8	ORPHA:90324
HP:0001638	Cardiomyopathy	2074	ERCC6	ORPHA:90324
HP:0001638	Cardiomyopathy	50484	RRM2B	ORPHA:329336
HP:0001638	Cardiomyopathy	246243	RNASEH1	ORPHA:329336
HP:0001638	Cardiomyopathy	50717	DCAF8	OMIM:610100
HP:0001638	Cardiomyopathy	2997	GYS1	OMIM:611556
HP:0001638	Cardiomyopathy	148738	HJV	OMIM:602390
HP:0001638	Cardiomyopathy	4758	NEU1	OMIM:256550
HP:0001638	Cardiomyopathy	58	ACTA1	ORPHA:171433
HP:0001638	Cardiomyopathy	58	ACTA1	ORPHA:171439
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:171433
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:171439
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:399103
HP:0001638	Cardiomyopathy	10324	KLHL41	ORPHA:171433
HP:0001638	Cardiomyopathy	10324	KLHL41	ORPHA:171439
HP:0001638	Cardiomyopathy	7170	TPM3	ORPHA:171433
HP:0001638	Cardiomyopathy	7170	TPM3	ORPHA:171439
HP:0001638	Cardiomyopathy	1352	COX10	OMIM:619046
HP:0001638	Cardiomyopathy	25782	RAB3GAP2	OMIM:212720
HP:0001638	Cardiomyopathy	30061	SLC40A1	OMIM:606069
HP:0001638	Cardiomyopathy	3908	LAMA2	ORPHA:258
HP:0001638	Cardiomyopathy	11155	LDB3	OMIM:609452
HP:0001638	Cardiomyopathy	11155	LDB3	ORPHA:98912
HP:0001638	Cardiomyopathy	6023	RMRP	ORPHA:175
HP:0001638	Cardiomyopathy	284058	KANSL1	ORPHA:363958
HP:0001638	Cardiomyopathy	284058	KANSL1	ORPHA:363965
HP:0001638	Cardiomyopathy	191	AHCY	OMIM:613752
HP:0001638	Cardiomyopathy	191	AHCY	ORPHA:88618
HP:0001638	Cardiomyopathy	3423	IDS	ORPHA:217085
HP:0001638	Cardiomyopathy	3423	IDS	ORPHA:217093
HP:0001638	Cardiomyopathy	8878	SQSTM1	ORPHA:603
HP:0001638	Cardiomyopathy	7072	TIA1	ORPHA:603
HP:0001638	Cardiomyopathy	9499	MYOT	OMIM:609200
HP:0001638	Cardiomyopathy	9499	MYOT	ORPHA:98911
HP:0001638	Cardiomyopathy	10020	GNE	ORPHA:602
HP:0001638	Cardiomyopathy	5095	PCCA	OMIM:606054
HP:0001638	Cardiomyopathy	5095	PCCA	ORPHA:35
HP:0001638	Cardiomyopathy	5096	PCCB	OMIM:606054
HP:0001638	Cardiomyopathy	5096	PCCB	ORPHA:35
HP:0001638	Cardiomyopathy	10367	MICU1	ORPHA:401768
HP:0001638	Cardiomyopathy	7466	WFS1	OMIM:222300
HP:0001638	Cardiomyopathy	7466	WFS1	ORPHA:3463
HP:0001638	Cardiomyopathy	9896	FIG4	ORPHA:3472
HP:0001638	Cardiomyopathy	9896	FIG4	OMIM:216340
HP:0001638	Cardiomyopathy	55697	VAC14	ORPHA:3472
HP:0001638	Cardiomyopathy	2992	GYG1	ORPHA:263297
HP:0001638	Cardiomyopathy	10352	WARS2	ORPHA:572798
HP:0001638	Cardiomyopathy	10352	WARS2	OMIM:617710
HP:0001638	Cardiomyopathy	3425	IDUA	OMIM:607014
HP:0001638	Cardiomyopathy	3425	IDUA	ORPHA:93473
HP:0001638	Cardiomyopathy	3425	IDUA	ORPHA:93476
HP:0001638	Cardiomyopathy	788	SLC25A20	ORPHA:159
HP:0001638	Cardiomyopathy	788	SLC25A20	OMIM:212138
HP:0001638	Cardiomyopathy	10585	POMT1	OMIM:609308
HP:0001638	Cardiomyopathy	10585	POMT1	ORPHA:370959
HP:0001638	Cardiomyopathy	10585	POMT1	ORPHA:86812
HP:0001638	Cardiomyopathy	10585	POMT1	OMIM:613155
HP:0001638	Cardiomyopathy	51594	NBAS	OMIM:616483
HP:0001638	Cardiomyopathy	8239	USP9X	ORPHA:480880
HP:0001638	Cardiomyopathy	3418	IDH2	OMIM:613657
HP:0001638	Cardiomyopathy	773	CACNA1A	ORPHA:2131
HP:0001638	Cardiomyopathy	6507	SLC1A3	ORPHA:2131
HP:0001638	Cardiomyopathy	477	ATP1A2	ORPHA:2131
HP:0001638	Cardiomyopathy	478	ATP1A3	ORPHA:2131
HP:0001638	Cardiomyopathy	493856	CISD2	ORPHA:3463
HP:0001638	Cardiomyopathy	56052	ALG1	ORPHA:79327
HP:0001638	Cardiomyopathy	56052	ALG1	OMIM:608540
HP:0001638	Cardiomyopathy	728294	D2HGDH	OMIM:600721
HP:0001638	Cardiomyopathy	2934	GSN	ORPHA:85448
HP:0001638	Cardiomyopathy	2934	GSN	OMIM:105120
HP:0001638	Cardiomyopathy	111	ADCY5	OMIM:619647
HP:0001638	Cardiomyopathy	111	ADCY5	OMIM:619651
HP:0001638	Cardiomyopathy	25973	PARS2	OMIM:618437
HP:0001638	Cardiomyopathy	5191	PEX7	OMIM:614879
HP:0001638	Cardiomyopathy	5191	PEX7	OMIM:266500
HP:0001638	Cardiomyopathy	5191	PEX7	ORPHA:773
HP:0001638	Cardiomyopathy	3178	HNRNPA1	ORPHA:52430
HP:0001638	Cardiomyopathy	7415	VCP	ORPHA:52430
HP:0001638	Cardiomyopathy	7415	VCP	ORPHA:329478
HP:0001638	Cardiomyopathy	3181	HNRNPA2B1	ORPHA:52430
HP:0001638	Cardiomyopathy	57104	PNPLA2	OMIM:610717
HP:0001638	Cardiomyopathy	57104	PNPLA2	ORPHA:565612
HP:0001638	Cardiomyopathy	57104	PNPLA2	ORPHA:98908
HP:0001638	Cardiomyopathy	57724	EPG5	OMIM:242840
HP:0001638	Cardiomyopathy	57724	EPG5	ORPHA:1493
HP:0001638	Cardiomyopathy	2239	GPC4	ORPHA:373
HP:0001638	Cardiomyopathy	2239	GPC4	OMIM:312870
HP:0001638	Cardiomyopathy	2719	GPC3	ORPHA:373
HP:0001638	Cardiomyopathy	2719	GPC3	OMIM:312870
HP:0001638	Cardiomyopathy	1028	CDKN1C	OMIM:130650
HP:0001638	Cardiomyopathy	10984	KCNQ1OT1	OMIM:130650
HP:0001638	Cardiomyopathy	3481	IGF2	OMIM:130650
HP:0001638	Cardiomyopathy	3784	KCNQ1	OMIM:130650
HP:0001638	Cardiomyopathy	654	BMP6	ORPHA:465508
HP:0001638	Cardiomyopathy	3077	HFE	ORPHA:465508
HP:0001638	Cardiomyopathy	3077	HFE	OMIM:235200
HP:0001638	Cardiomyopathy	7169	TPM2	ORPHA:171439
HP:0001638	Cardiomyopathy	390594	KBTBD13	ORPHA:171439
HP:0001638	Cardiomyopathy	57817	HAMP	OMIM:613313
HP:0001638	Cardiomyopathy	404672	GTF2H5	ORPHA:33364
HP:0001638	Cardiomyopathy	833	CARS1	ORPHA:33364
HP:0001638	Cardiomyopathy	2068	ERCC2	ORPHA:33364
HP:0001638	Cardiomyopathy	7737	RNF113A	ORPHA:33364
HP:0001638	Cardiomyopathy	136647	MPLKIP	ORPHA:33364
HP:0001638	Cardiomyopathy	6897	TARS1	ORPHA:33364
HP:0001638	Cardiomyopathy	2071	ERCC3	ORPHA:33364
HP:0001638	Cardiomyopathy	2961	GTF2E2	ORPHA:33364
HP:0001638	Cardiomyopathy	3954	LETM1	OMIM:620089
HP:0001638	Cardiomyopathy	10195	ALG3	ORPHA:79321
HP:0001638	Cardiomyopathy	23676	SMPX	OMIM:301075
HP:0001638	Cardiomyopathy	5256	PHKA2	ORPHA:264580
HP:0001638	Cardiomyopathy	5261	PHKG2	ORPHA:264580
HP:0001638	Cardiomyopathy	6443	SGCB	ORPHA:119
HP:0001638	Cardiomyopathy	4594	MMUT	ORPHA:79312
HP:0001638	Cardiomyopathy	4594	MMUT	OMIM:251000
HP:0001638	Cardiomyopathy	2632	GBE1	OMIM:232500
HP:0001638	Cardiomyopathy	1756	DMD	OMIM:310200
HP:0001638	Cardiomyopathy	1756	DMD	ORPHA:98896
HP:0001638	Cardiomyopathy	1756	DMD	OMIM:300376
HP:0001638	Cardiomyopathy	5428	POLG	OMIM:258450
HP:0001638	Cardiomyopathy	5428	POLG	ORPHA:254886
HP:0001638	Cardiomyopathy	81570	CLPB	ORPHA:445038
HP:0001638	Cardiomyopathy	411	ARSB	OMIM:253200
HP:0001638	Cardiomyopathy	6442	SGCA	OMIM:608099
HP:0001638	Cardiomyopathy	7084	TK2	ORPHA:254886
HP:0001638	Cardiomyopathy	3714	JAG2	OMIM:619566
HP:0001638	Cardiomyopathy	5264	PHYH	OMIM:266500
HP:0001638	Cardiomyopathy	5264	PHYH	ORPHA:773
HP:0001638	Cardiomyopathy	3756	KCNH1	OMIM:135500
HP:0001638	Cardiomyopathy	10560	SLC19A2	OMIM:249270
HP:0001638	Cardiomyopathy	6331	SCN5A	ORPHA:1344
HP:0001638	Cardiomyopathy	10616	RBCK1	OMIM:615895
HP:0001638	Cardiomyopathy	708	C1QBP	OMIM:617713
HP:0001638	Cardiomyopathy	9325	TRIP4	OMIM:616866
HP:0001638	Cardiomyopathy	56652	TWNK	OMIM:609286
HP:0001638	Cardiomyopathy	2771	GNAI2	OMIM:192605
HP:0001638	Cardiomyopathy	8425	LTBP4	ORPHA:98896
HP:0001638	Cardiomyopathy	650	BMP2	OMIM:235200
HP:0001638	Cardiomyopathy	51095	TRNT1	OMIM:616084
HP:0001638	Cardiomyopathy	4576	MT-TT	ORPHA:254857
HP:0001638	Cardiomyopathy	35	ACADS	OMIM:201470
HP:0001638	Cardiomyopathy	35	ACADS	ORPHA:26792
HP:0001638	Cardiomyopathy	3257	HPS1	OMIM:203300
HP:0001638	Cardiomyopathy	3704	ITPA	OMIM:616647
HP:0001638	Cardiomyopathy	3032	HADHB	ORPHA:746
HP:0001638	Cardiomyopathy	7036	TFR2	OMIM:604250
HP:0001638	Cardiomyopathy	79147	FKRP	ORPHA:370959
HP:0001638	Cardiomyopathy	29954	POMT2	ORPHA:370959
HP:0001638	Cardiomyopathy	84197	POMK	ORPHA:370959
HP:0001638	Cardiomyopathy	55624	POMGNT1	ORPHA:370959
HP:0001638	Cardiomyopathy	7504	XK	OMIM:300842
HP:0001638	Cardiomyopathy	283459	GATC	OMIM:618839
HP:0001638	Cardiomyopathy	55670	PEX26	ORPHA:772
HP:0001638	Cardiomyopathy	5824	PEX19	ORPHA:772
HP:0001638	Cardiomyopathy	5828	PEX2	ORPHA:772
HP:0001638	Cardiomyopathy	8504	PEX3	ORPHA:772
HP:0001638	Cardiomyopathy	9409	PEX16	ORPHA:772
HP:0001638	Cardiomyopathy	5190	PEX6	ORPHA:772
HP:0001638	Cardiomyopathy	8799	PEX11B	ORPHA:772
HP:0001638	Cardiomyopathy	5830	PEX5	ORPHA:772
HP:0001638	Cardiomyopathy	5189	PEX1	ORPHA:772
HP:0001638	Cardiomyopathy	5193	PEX12	ORPHA:772
HP:0001638	Cardiomyopathy	5194	PEX13	ORPHA:772
HP:0001638	Cardiomyopathy	5195	PEX14	ORPHA:772
HP:0001638	Cardiomyopathy	5192	PEX10	ORPHA:772
HP:0001638	Cardiomyopathy	7428	VHL	ORPHA:892
HP:0001638	Cardiomyopathy	595	CCND1	ORPHA:892
HP:0001638	Cardiomyopathy	178	AGL	OMIM:232400
HP:0001638	Cardiomyopathy	51099	ABHD5	ORPHA:98907
HP:0001638	Cardiomyopathy	2990	GUSB	OMIM:253220
HP:0001638	Cardiomyopathy	84700	MYO18B	OMIM:616549
HP:0001638	Cardiomyopathy	55005	RMND1	OMIM:614922
HP:0001638	Cardiomyopathy	1376	CPT2	ORPHA:228305
HP:0001638	Cardiomyopathy	1376	CPT2	ORPHA:228308
HP:0001638	Cardiomyopathy	203859	ANO5	ORPHA:206549
HP:0001638	Cardiomyopathy	1374	CPT1A	ORPHA:156
HP:0001638	Cardiomyopathy	8243	SMC1A	OMIM:300590
HP:0001638	Cardiomyopathy	10128	LRPPRC	OMIM:220111
HP:0001638	Cardiomyopathy	10128	LRPPRC	ORPHA:70472
HP:0001638	Cardiomyopathy	8036	SHOC2	OMIM:607721
HP:0001638	Cardiomyopathy	8036	SHOC2	ORPHA:2701
HP:0001638	Cardiomyopathy	1410	CRYAB	OMIM:608810
HP:0001638	Cardiomyopathy	25915	NDUFAF3	ORPHA:2609
HP:0001638	Cardiomyopathy	25915	NDUFAF3	ORPHA:70474
HP:0001638	Cardiomyopathy	51103	NDUFAF1	ORPHA:2609
HP:0001638	Cardiomyopathy	51103	NDUFAF1	OMIM:618234
HP:0001638	Cardiomyopathy	91942	NDUFAF2	ORPHA:2609
HP:0001638	Cardiomyopathy	91942	NDUFAF2	ORPHA:255241
HP:0001638	Cardiomyopathy	51300	TIMMDC1	ORPHA:2609
HP:0001638	Cardiomyopathy	4716	NDUFB10	ORPHA:2609
HP:0001638	Cardiomyopathy	4723	NDUFV1	ORPHA:2609
HP:0001638	Cardiomyopathy	4723	NDUFV1	ORPHA:255241
HP:0001638	Cardiomyopathy	55572	FOXRED1	ORPHA:2609
HP:0001638	Cardiomyopathy	55572	FOXRED1	OMIM:618241
HP:0001638	Cardiomyopathy	55572	FOXRED1	ORPHA:255241
HP:0001638	Cardiomyopathy	284184	NDUFAF8	ORPHA:2609
HP:0001638	Cardiomyopathy	55863	TMEM126B	ORPHA:2609
HP:0001638	Cardiomyopathy	55863	TMEM126B	OMIM:618250
HP:0001638	Cardiomyopathy	4537	MT-ND3	ORPHA:2609
HP:0001638	Cardiomyopathy	4537	MT-ND3	ORPHA:255210
HP:0001638	Cardiomyopathy	4729	NDUFV2	ORPHA:2609
HP:0001638	Cardiomyopathy	4729	NDUFV2	OMIM:618229
HP:0001638	Cardiomyopathy	4729	NDUFV2	ORPHA:255241
HP:0001638	Cardiomyopathy	4694	NDUFA1	ORPHA:2609
HP:0001638	Cardiomyopathy	4720	NDUFS2	ORPHA:2609
HP:0001638	Cardiomyopathy	4720	NDUFS2	OMIM:618228
HP:0001638	Cardiomyopathy	4720	NDUFS2	ORPHA:70474
HP:0001638	Cardiomyopathy	4720	NDUFS2	ORPHA:255241
HP:0001638	Cardiomyopathy	4726	NDUFS6	ORPHA:2609
HP:0001638	Cardiomyopathy	4728	NDUFS8	ORPHA:2609
HP:0001638	Cardiomyopathy	4728	NDUFS8	OMIM:618222
HP:0001638	Cardiomyopathy	4728	NDUFS8	ORPHA:255241
HP:0001638	Cardiomyopathy	4722	NDUFS3	ORPHA:2609
HP:0001638	Cardiomyopathy	4722	NDUFS3	ORPHA:255241
HP:0001638	Cardiomyopathy	79133	NDUFAF5	ORPHA:2609
HP:0001638	Cardiomyopathy	79133	NDUFAF5	ORPHA:255241
HP:0001638	Cardiomyopathy	126328	NDUFA11	ORPHA:2609
HP:0001638	Cardiomyopathy	126328	NDUFA11	OMIM:618236
HP:0001638	Cardiomyopathy	4709	NDUFB3	ORPHA:2609
HP:0001638	Cardiomyopathy	80224	NUBPL	ORPHA:2609
HP:0001638	Cardiomyopathy	29078	NDUFAF4	ORPHA:2609
HP:0001638	Cardiomyopathy	29078	NDUFAF4	OMIM:618237
HP:0001638	Cardiomyopathy	374291	NDUFS7	ORPHA:2609
HP:0001638	Cardiomyopathy	374291	NDUFS7	ORPHA:255241
HP:0001638	Cardiomyopathy	4700	NDUFA6	ORPHA:2609
HP:0001638	Cardiomyopathy	4536	MT-ND2	ORPHA:2609
HP:0001638	Cardiomyopathy	4536	MT-ND2	ORPHA:255210
HP:0001638	Cardiomyopathy	4719	NDUFS1	ORPHA:2609
HP:0001638	Cardiomyopathy	4719	NDUFS1	ORPHA:255241
HP:0001638	Cardiomyopathy	4715	NDUFB9	ORPHA:2609
HP:0001638	Cardiomyopathy	26235	FBXL4	OMIM:615471
HP:0001638	Cardiomyopathy	8216	LZTR1	OMIM:616564
HP:0001638	Cardiomyopathy	8216	LZTR1	OMIM:605275
HP:0001638	Cardiomyopathy	4570	MT-TN	OMIM:220110
HP:0001638	Cardiomyopathy	6834	SURF1	OMIM:220110
HP:0001638	Cardiomyopathy	6834	SURF1	ORPHA:70474
HP:0001638	Cardiomyopathy	6834	SURF1	ORPHA:255241
HP:0001638	Cardiomyopathy	55532	SLC30A10	ORPHA:309854
HP:0001638	Cardiomyopathy	6016	RIT1	OMIM:615355
HP:0001638	Cardiomyopathy	1355	COX15	OMIM:615119
HP:0001638	Cardiomyopathy	1355	COX15	ORPHA:255241
HP:0001638	Cardiomyopathy	5894	RAF1	OMIM:611554
HP:0001638	Cardiomyopathy	5894	RAF1	OMIM:611553
HP:0001638	Cardiomyopathy	5894	RAF1	ORPHA:500
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:115150
HP:0001638	Cardiomyopathy	673	BRAF	ORPHA:1340
HP:0001638	Cardiomyopathy	673	BRAF	ORPHA:500
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:613706
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:163950
HP:0001638	Cardiomyopathy	25821	MTO1	OMIM:614702
HP:0001638	Cardiomyopathy	84334	COA8	ORPHA:436271
HP:0001638	Cardiomyopathy	57176	VARS2	OMIM:615917
HP:0001638	Cardiomyopathy	4577	MT-TV	ORPHA:255210
HP:0001638	Cardiomyopathy	4508	MT-ATP6	ORPHA:255210
HP:0001638	Cardiomyopathy	4566	MT-TK	ORPHA:255210
HP:0001638	Cardiomyopathy	4566	MT-TK	ORPHA:225
HP:0001638	Cardiomyopathy	4566	MT-TK	ORPHA:1349
HP:0001638	Cardiomyopathy	54968	TMEM70	ORPHA:1194
HP:0001638	Cardiomyopathy	54968	TMEM70	OMIM:614052
HP:0001638	Cardiomyopathy	70	ACTC1	OMIM:612098
HP:0001638	Cardiomyopathy	84665	MYPN	OMIM:615248
HP:0001638	Cardiomyopathy	84665	MYPN	ORPHA:75249
HP:0001638	Cardiomyopathy	65082	VPS33A	OMIM:617303
HP:0001638	Cardiomyopathy	65082	VPS33A	ORPHA:505248
HP:0001638	Cardiomyopathy	3764	KCNJ8	ORPHA:1517
HP:0001638	Cardiomyopathy	10060	ABCC9	ORPHA:1517
HP:0001638	Cardiomyopathy	79158	GNPTAB	OMIM:252500
HP:0001638	Cardiomyopathy	1340	COX6B1	OMIM:619051
HP:0001638	Cardiomyopathy	84987	COX14	OMIM:619053
HP:0001638	Cardiomyopathy	2273	FHL1	OMIM:300696
HP:0001638	Cardiomyopathy	2273	FHL1	ORPHA:98863
HP:0001638	Cardiomyopathy	2273	FHL1	OMIM:300280
HP:0001638	Cardiomyopathy	1757	SARDH	ORPHA:3129
HP:0001638	Cardiomyopathy	57158	JPH2	OMIM:613873
HP:0001638	Cardiomyopathy	5468	PPARG	ORPHA:79083
HP:0001638	Cardiomyopathy	5468	PPARG	ORPHA:528
HP:0001638	Cardiomyopathy	5350	PLN	OMIM:613874
HP:0001638	Cardiomyopathy	91624	NEXN	OMIM:613876
HP:0001638	Cardiomyopathy	29967	LRP12	OMIM:164310
HP:0001638	Cardiomyopathy	672	BRCA1	ORPHA:84
HP:0001638	Cardiomyopathy	10459	MAD2L2	ORPHA:84
HP:0001638	Cardiomyopathy	7516	XRCC2	ORPHA:84
HP:0001638	Cardiomyopathy	29089	UBE2T	ORPHA:84
HP:0001638	Cardiomyopathy	675	BRCA2	ORPHA:84
HP:0001638	Cardiomyopathy	55120	FANCL	ORPHA:84
HP:0001638	Cardiomyopathy	2177	FANCD2	ORPHA:84
HP:0001638	Cardiomyopathy	2175	FANCA	ORPHA:84
HP:0001638	Cardiomyopathy	2187	FANCB	ORPHA:84
HP:0001638	Cardiomyopathy	2176	FANCC	ORPHA:84
HP:0001638	Cardiomyopathy	2178	FANCE	ORPHA:84
HP:0001638	Cardiomyopathy	2188	FANCF	ORPHA:84
HP:0001638	Cardiomyopathy	2189	FANCG	ORPHA:84
HP:0001638	Cardiomyopathy	5888	RAD51	ORPHA:84
HP:0001638	Cardiomyopathy	5889	RAD51C	ORPHA:84
HP:0001638	Cardiomyopathy	55159	RFWD3	ORPHA:84
HP:0001638	Cardiomyopathy	83990	BRIP1	ORPHA:84
HP:0001638	Cardiomyopathy	57697	FANCM	ORPHA:84
HP:0001638	Cardiomyopathy	79728	PALB2	ORPHA:84
HP:0001638	Cardiomyopathy	84464	SLX4	ORPHA:84
HP:0001638	Cardiomyopathy	2072	ERCC4	ORPHA:84
HP:0001638	Cardiomyopathy	55215	FANCI	ORPHA:84
HP:0001638	Cardiomyopathy	83550	GPR101	ORPHA:963
HP:0001638	Cardiomyopathy	9049	AIP	ORPHA:963
HP:0001638	Cardiomyopathy	9049	AIP	ORPHA:99725
HP:0001638	Cardiomyopathy	2626	GATA4	ORPHA:251071
HP:0001638	Cardiomyopathy	1717	DHCR7	OMIM:270400
HP:0001638	Cardiomyopathy	7274	TTPA	ORPHA:96
HP:0001638	Cardiomyopathy	203286	ANKS6	OMIM:615382
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:363700
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:97685
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:638
HP:0001638	Cardiomyopathy	7386	UQCRFS1	OMIM:618775
HP:0001638	Cardiomyopathy	514	ATP5F1E	OMIM:614053
HP:0001638	Cardiomyopathy	5500	PPP1CB	ORPHA:2701
HP:0001638	Cardiomyopathy	5500	PPP1CB	OMIM:617506
HP:0001638	Cardiomyopathy	388962	BOLA3	OMIM:614299
HP:0001638	Cardiomyopathy	7273	TTN	OMIM:613765
HP:0001638	Cardiomyopathy	200734	SPRED2	OMIM:619745
HP:0001638	Cardiomyopathy	28976	ACAD9	ORPHA:99901
HP:0001638	Cardiomyopathy	28976	ACAD9	OMIM:611126
HP:0001638	Cardiomyopathy	3265	HRAS	OMIM:218040
HP:0001638	Cardiomyopathy	3265	HRAS	ORPHA:3071
HP:0001638	Cardiomyopathy	4607	MYBPC3	OMIM:115197
HP:0001638	Cardiomyopathy	65080	MRPL44	OMIM:615395
HP:0001638	Cardiomyopathy	3028	HSD17B10	OMIM:300438
HP:0001638	Cardiomyopathy	3028	HSD17B10	ORPHA:391457
HP:0001638	Cardiomyopathy	3028	HSD17B10	ORPHA:391428
HP:0001638	Cardiomyopathy	5604	MAP2K1	OMIM:615279
HP:0001638	Cardiomyopathy	5604	MAP2K1	ORPHA:1340
HP:0001638	Cardiomyopathy	5604	MAP2K1	OMIM:163950
HP:0001638	Cardiomyopathy	7139	TNNT2	OMIM:115195
HP:0001638	Cardiomyopathy	7139	TNNT2	ORPHA:75249
HP:0001638	Cardiomyopathy	6804	STX1A	ORPHA:904
HP:0001638	Cardiomyopathy	7461	CLIP2	ORPHA:904
HP:0001638	Cardiomyopathy	84277	DNAJC30	ORPHA:904
HP:0001638	Cardiomyopathy	8468	FKBP6	ORPHA:904
HP:0001638	Cardiomyopathy	5982	RFC2	ORPHA:904
HP:0001638	Cardiomyopathy	2969	GTF2I	ORPHA:904
HP:0001638	Cardiomyopathy	3984	LIMK1	ORPHA:904
HP:0001638	Cardiomyopathy	9569	GTF2IRD1	ORPHA:904
HP:0001638	Cardiomyopathy	155382	VPS37D	ORPHA:904
HP:0001638	Cardiomyopathy	155368	METTL27	ORPHA:904
HP:0001638	Cardiomyopathy	114049	BUD23	ORPHA:904
HP:0001638	Cardiomyopathy	7458	EIF4H	ORPHA:904
HP:0001638	Cardiomyopathy	84163	GTF2IRD2	ORPHA:904
HP:0001638	Cardiomyopathy	9275	BCL7B	ORPHA:904
HP:0001638	Cardiomyopathy	26608	TBL2	ORPHA:904
HP:0001638	Cardiomyopathy	653361	NCF1	ORPHA:904
HP:0001638	Cardiomyopathy	135886	TMEM270	ORPHA:904
HP:0001638	Cardiomyopathy	51085	MLXIPL	ORPHA:904
HP:0001638	Cardiomyopathy	9031	BAZ1B	ORPHA:904
HP:0001638	Cardiomyopathy	2006	ELN	ORPHA:904
HP:0001638	Cardiomyopathy	8557	TCAP	OMIM:607487
HP:0001638	Cardiomyopathy	81031	SLC2A10	ORPHA:3342
HP:0001638	Cardiomyopathy	4556	MT-TE	ORPHA:225
HP:0001638	Cardiomyopathy	55210	ATAD3A	ORPHA:496790
HP:0001638	Cardiomyopathy	55210	ATAD3A	OMIM:618810
HP:0001638	Cardiomyopathy	55210	ATAD3A	OMIM:617183
HP:0001638	Cardiomyopathy	2548	GAA	ORPHA:308552
HP:0001638	Cardiomyopathy	27068	PPA2	OMIM:617222
HP:0001638	Cardiomyopathy	4285	MIPEP	OMIM:617228
HP:0001638	Cardiomyopathy	7276	TTR	ORPHA:85451
HP:0001638	Cardiomyopathy	64135	IFIH1	OMIM:615846
HP:0001638	Cardiomyopathy	64135	IFIH1	ORPHA:51
HP:0001638	Cardiomyopathy	6901	TAFAZZIN	OMIM:302060
HP:0001638	Cardiomyopathy	4221	MEN1	ORPHA:99725
HP:0001638	Cardiomyopathy	388015	RTL1	ORPHA:96334
HP:0001638	Cardiomyopathy	8788	DLK1	ORPHA:96334
HP:0001638	Cardiomyopathy	55384	MEG3	ORPHA:96334
HP:0001638	Cardiomyopathy	4000	LMNA	ORPHA:280365
HP:0001638	Cardiomyopathy	4000	LMNA	ORPHA:98853
HP:0001638	Cardiomyopathy	4000	LMNA	ORPHA:2348
HP:0001638	Cardiomyopathy	5373	PMM2	ORPHA:79318
HP:0001638	Cardiomyopathy	2395	FXN	OMIM:229300
HP:0001638	Cardiomyopathy	84833	ATP5MK	OMIM:618683
HP:0001638	Cardiomyopathy	10661	KLF1	OMIM:613673
HP:0001638	Cardiomyopathy	125988	MICOS13	OMIM:618329
HP:0001638	Cardiomyopathy	2720	GLB1	OMIM:230500
HP:0001638	Cardiomyopathy	2184	FAH	OMIM:276700
HP:0001638	Cardiomyopathy	5836	PYGL	ORPHA:369
HP:0001638	Cardiomyopathy	5837	PYGM	ORPHA:368
HP:0001638	Cardiomyopathy	2010	EMD	ORPHA:98863
HP:0001638	Cardiomyopathy	56246	MRAP	ORPHA:361
HP:0001638	Cardiomyopathy	6770	STAR	ORPHA:361
HP:0001638	Cardiomyopathy	4158	MC2R	ORPHA:361
HP:0001638	Cardiomyopathy	23530	NNT	ORPHA:361
HP:0001638	Cardiomyopathy	10587	TXNRD2	ORPHA:361
HP:0001638	Cardiomyopathy	3845	KRAS	OMIM:600268
HP:0001638	Cardiomyopathy	3845	KRAS	ORPHA:1340
HP:0001638	Cardiomyopathy	3845	KRAS	OMIM:609942
HP:0001638	Cardiomyopathy	57505	AARS2	OMIM:614096
HP:0001638	Cardiomyopathy	5781	PTPN11	OMIM:151100
HP:0001638	Cardiomyopathy	5781	PTPN11	ORPHA:500
HP:0001638	Cardiomyopathy	5781	PTPN11	OMIM:163950
HP:0001638	Cardiomyopathy	1892	ECHS1	OMIM:616277
HP:0001638	Cardiomyopathy	1892	ECHS1	ORPHA:255241
HP:0001638	Cardiomyopathy	51117	COQ4	OMIM:616276
HP:0001638	Cardiomyopathy	51067	YARS2	OMIM:613561
HP:0001638	Cardiomyopathy	58497	PRUNE1	ORPHA:544469
HP:0001638	Cardiomyopathy	7351	UCP2	ORPHA:276556
HP:0001638	Cardiomyopathy	6654	SOS1	OMIM:610733
HP:0001638	Cardiomyopathy	10535	RNASEH2A	ORPHA:51
HP:0001638	Cardiomyopathy	84153	RNASEH2C	ORPHA:51
HP:0001638	Cardiomyopathy	25939	SAMHD1	ORPHA:51
HP:0001638	Cardiomyopathy	79621	RNASEH2B	ORPHA:51
HP:0001638	Cardiomyopathy	103	ADAR	ORPHA:51
HP:0001638	Cardiomyopathy	11277	TREX1	ORPHA:51
HP:0001638	Cardiomyopathy	100147744	RNU7-1	ORPHA:51
HP:0001638	Cardiomyopathy	134353	LSM11	ORPHA:51
HP:0001638	Cardiomyopathy	84705	GTPBP3	ORPHA:444013
HP:0001638	Cardiomyopathy	84705	GTPBP3	OMIM:616198
HP:0001638	Cardiomyopathy	23345	SYNE1	ORPHA:98853
HP:0001638	Cardiomyopathy	23224	SYNE2	ORPHA:98853
HP:0001638	Cardiomyopathy	1738	DLD	OMIM:246900
HP:0001638	Cardiomyopathy	3033	HADH	OMIM:231530
HP:0001638	Cardiomyopathy	3033	HADH	ORPHA:71212
HP:0001638	Cardiomyopathy	8048	CSRP3	OMIM:612124
HP:0001638	Cardiomyopathy	5250	SLC25A3	ORPHA:91130
HP:0001638	Cardiomyopathy	5250	SLC25A3	OMIM:610773
HP:0001638	Cardiomyopathy	291	SLC25A4	ORPHA:1369
HP:0001638	Cardiomyopathy	291	SLC25A4	OMIM:615418
HP:0001638	Cardiomyopathy	291	SLC25A4	OMIM:617184
HP:0001638	Cardiomyopathy	26007	TKFC	ORPHA:1369
HP:0001638	Cardiomyopathy	55750	AGK	ORPHA:1369
HP:0001638	Cardiomyopathy	55750	AGK	OMIM:212350
HP:0001638	Cardiomyopathy	56945	MRPS22	OMIM:611719
HP:0001638	Cardiomyopathy	4695	NDUFA2	OMIM:618235
HP:0001638	Cardiomyopathy	4695	NDUFA2	ORPHA:255241
HP:0001638	Cardiomyopathy	4893	NRAS	OMIM:613224
HP:0001638	Cardiomyopathy	6833	ABCC8	ORPHA:276575
HP:0001638	Cardiomyopathy	3920	LAMP2	ORPHA:34587
HP:0001638	Cardiomyopathy	3920	LAMP2	OMIM:300257
HP:0001638	Cardiomyopathy	79068	FTO	OMIM:612938
HP:0001638	Cardiomyopathy	3767	KCNJ11	ORPHA:276580
HP:0001638	Cardiomyopathy	27235	COQ2	OMIM:607426
HP:0001638	Cardiomyopathy	4705	NDUFA10	OMIM:618243
HP:0001638	Cardiomyopathy	4705	NDUFA10	ORPHA:255241
HP:0001638	Cardiomyopathy	388753	COA6	OMIM:616501
HP:0001638	Cardiomyopathy	493753	COA5	OMIM:616500
HP:0001638	Cardiomyopathy	5605	MAP2K2	ORPHA:1340
HP:0001638	Cardiomyopathy	5605	MAP2K2	ORPHA:638
HP:0001638	Cardiomyopathy	284086	NEK8	OMIM:615415
HP:0001638	Cardiomyopathy	4634	MYL3	OMIM:608751
HP:0001638	Cardiomyopathy	2717	GLA	ORPHA:324
HP:0001638	Cardiomyopathy	63931	MRPS14	OMIM:618378
HP:0001638	Cardiomyopathy	22808	MRAS	OMIM:618499
HP:0001638	Cardiomyopathy	8802	SUCLG1	ORPHA:17
HP:0001638	Cardiomyopathy	2318	FLNC	OMIM:617047
HP:0001638	Cardiomyopathy	2318	FLNC	ORPHA:75249
HP:0001638	Cardiomyopathy	7289	TULP3	OMIM:619902
HP:0001638	Cardiomyopathy	88	ACTN2	OMIM:612158
HP:0001638	Cardiomyopathy	128989	TANGO2	OMIM:616878
HP:0001638	Cardiomyopathy	9531	BAG3	OMIM:612954
HP:0001638	Cardiomyopathy	9997	SCO2	OMIM:604377
HP:0001638	Cardiomyopathy	9997	SCO2	ORPHA:70474
HP:0001638	Cardiomyopathy	37	ACADVL	OMIM:201475
HP:0001638	Cardiomyopathy	11019	LIAS	OMIM:614462
HP:0001638	Cardiomyopathy	26580	BSCL2	OMIM:269700
HP:0001638	Cardiomyopathy	26580	BSCL2	ORPHA:528
HP:0001638	Cardiomyopathy	11222	MRPL3	OMIM:614582
HP:0001638	Cardiomyopathy	3643	INSR	ORPHA:508
HP:0001638	Cardiomyopathy	7167	TPI1	ORPHA:868
HP:0001638	Cardiomyopathy	10112	KIF20A	ORPHA:75249
HP:0001638	Cardiomyopathy	7040	TGFB1	ORPHA:1328
HP:0001638	Cardiomyopathy	4714	NDUFB8	ORPHA:70474
HP:0001638	Cardiomyopathy	6472	SHMT2	OMIM:619121
HP:0001638	Cardiomyopathy	60528	ELAC2	OMIM:615440
HP:0001638	Cardiomyopathy	55278	QRSL1	OMIM:618835
HP:0001638	Cardiomyopathy	202018	TAPT1	OMIM:616897
HP:0001638	Cardiomyopathy	4976	OPA1	OMIM:616896
HP:0001638	Cardiomyopathy	57570	TRMT5	OMIM:616539
HP:0001638	Cardiomyopathy	617	BCS1L	OMIM:124000
HP:0001638	Cardiomyopathy	80704	SLC19A3	ORPHA:255241
HP:0001638	Cardiomyopathy	55967	NDUFA12	ORPHA:255241
HP:0001638	Cardiomyopathy	51204	TACO1	ORPHA:255241
HP:0001638	Cardiomyopathy	137682	NDUFAF6	ORPHA:255241
HP:0001638	Cardiomyopathy	5160	PDHA1	ORPHA:255241
HP:0001638	Cardiomyopathy	100131801	PET100	ORPHA:255241
HP:0001638	Cardiomyopathy	123263	MTFMT	ORPHA:255241
HP:0001638	Cardiomyopathy	51079	NDUFA13	ORPHA:255241
HP:0001638	Cardiomyopathy	51601	LIPT1	ORPHA:255241
HP:0001638	Cardiomyopathy	4697	NDUFA4	ORPHA:255241
HP:0001638	Cardiomyopathy	4704	NDUFA9	ORPHA:255241
HP:0001638	Cardiomyopathy	4668	NAGA	ORPHA:79281
HP:0001638	Cardiomyopathy	4668	NAGA	ORPHA:79279
HP:0001638	Cardiomyopathy	51684	SUFU	OMIM:617757
HP:0001638	Cardiomyopathy	3593	IL12B	ORPHA:3287
HP:0001638	Cardiomyopathy	3106	HLA-B	ORPHA:3287
HP:0001638	Cardiomyopathy	6945	MLX	ORPHA:3287
HP:0001638	Cardiomyopathy	10555	AGPAT2	ORPHA:528
HP:0001638	Cardiomyopathy	284119	CAVIN1	ORPHA:528
HP:0001638	Cardiomyopathy	2353	FOS	ORPHA:528
HP:0001638	Cardiomyopathy	857	CAV1	ORPHA:528
HP:0001638	Cardiomyopathy	84233	TMEM126A	OMIM:612989
HP:0001638	Cardiomyopathy	3030	HADHA	ORPHA:5
HP:0001638	Cardiomyopathy	129285	PPP1R21	OMIM:619383
HP:0001638	Cardiomyopathy	9054	NFS1	OMIM:619386
HP:0001638	Cardiomyopathy	523	ATP6V1A	OMIM:617403
HP:0001638	Cardiomyopathy	96459	FNIP1	OMIM:619705
HP:0001638	Cardiomyopathy	22868	FASTKD2	OMIM:618855
HP:0001638	Cardiomyopathy	4713	NDUFB7	OMIM:620135
HP:0001638	Cardiomyopathy	6584	SLC22A5	OMIM:212140
HP:0001638	Cardiomyopathy	11232	POLG2	ORPHA:254892
HP:0001638	Cardiomyopathy	3155	HMGCL	ORPHA:20
HP:0001638	Cardiomyopathy	2218	FKTN	ORPHA:272
HP:0001638	Cardiomyopathy	2218	FKTN	ORPHA:154
HP:0001638	Cardiomyopathy	2218	FKTN	OMIM:611615
HP:0001638	Cardiomyopathy	2218	FKTN	OMIM:253800
HP:0001638	Cardiomyopathy	9015	TAF1A	ORPHA:154
HP:0001638	Cardiomyopathy	5663	PSEN1	ORPHA:154
HP:0001638	Cardiomyopathy	5663	PSEN1	OMIM:613694
HP:0001638	Cardiomyopathy	7112	TMPO	ORPHA:154
HP:0001638	Cardiomyopathy	9464	HAND2	ORPHA:154
HP:0001638	Cardiomyopathy	10486	CAP2	ORPHA:154
HP:0001638	Cardiomyopathy	27063	ANKRD1	ORPHA:154
HP:0001638	Cardiomyopathy	3910	LAMA4	ORPHA:154
HP:0001638	Cardiomyopathy	3910	LAMA4	OMIM:615235
HP:0001638	Cardiomyopathy	63976	PRDM16	ORPHA:154
HP:0001638	Cardiomyopathy	63976	PRDM16	OMIM:615373
HP:0001638	Cardiomyopathy	63976	PRDM16	ORPHA:1606
HP:0001638	Cardiomyopathy	79717	PPCS	ORPHA:154
HP:0001638	Cardiomyopathy	79717	PPCS	OMIM:618189
HP:0001638	Cardiomyopathy	5664	PSEN2	ORPHA:154
HP:0001638	Cardiomyopathy	5664	PSEN2	OMIM:613697
HP:0001638	Cardiomyopathy	9529	BAG5	ORPHA:154
HP:0001638	Cardiomyopathy	9529	BAG5	OMIM:619747
HP:0001638	Cardiomyopathy	282996	RBM20	ORPHA:154
HP:0001638	Cardiomyopathy	282996	RBM20	OMIM:613172
HP:0001638	Cardiomyopathy	2274	FHL2	ORPHA:154
HP:0001638	Cardiomyopathy	22845	DOLK	ORPHA:154
HP:0001638	Cardiomyopathy	22845	DOLK	ORPHA:91131
HP:0001638	Cardiomyopathy	22845	DOLK	OMIM:610768
HP:0001638	Cardiomyopathy	57798	GATAD1	ORPHA:154
HP:0001638	Cardiomyopathy	57798	GATAD1	OMIM:614672
HP:0001638	Cardiomyopathy	6444	SGCD	ORPHA:154
HP:0001638	Cardiomyopathy	6444	SGCD	OMIM:606685
HP:0001638	Cardiomyopathy	2070	EYA4	ORPHA:217622
HP:0001638	Cardiomyopathy	2070	EYA4	OMIM:605362
HP:0001638	Cardiomyopathy	57122	NUP107	OMIM:618348
HP:0001638	Cardiomyopathy	57122	NUP107	OMIM:616730
HP:0001638	Cardiomyopathy	3909	LAMA3	ORPHA:79404
HP:0001638	Cardiomyopathy	3918	LAMC2	ORPHA:79404
HP:0001638	Cardiomyopathy	3914	LAMB3	ORPHA:79404
HP:0001638	Cardiomyopathy	1120	CHKB	OMIM:602541
HP:0001638	Cardiomyopathy	4312	MMP1	ORPHA:79408
HP:0001638	Cardiomyopathy	1294	COL7A1	ORPHA:79408
HP:0001638	Cardiomyopathy	1294	COL7A1	ORPHA:89842
HP:0001638	Cardiomyopathy	197131	UBR1	OMIM:243800
HP:0001638	Cardiomyopathy	92667	MGME1	OMIM:615084
HP:0001638	Cardiomyopathy	92667	MGME1	ORPHA:352447
HP:0001638	Cardiomyopathy	55182	RNF220	OMIM:619688
HP:0001638	Cardiomyopathy	27034	ACAD8	OMIM:611283
HP:0001638	Cardiomyopathy	27034	ACAD8	ORPHA:79159
HP:0001638	Cardiomyopathy	7015	TERT	OMIM:613989
HP:0001638	Cardiomyopathy	54344	DPM3	OMIM:612937
HP:0001638	Cardiomyopathy	54344	DPM3	ORPHA:263494
HP:0001638	Cardiomyopathy	58528	RRAGD	OMIM:620152
HP:0001638	Cardiomyopathy	513	ATP5F1D	OMIM:618120
HP:0001638	Cardiomyopathy	50619	DEF6	OMIM:619573
HP:0001638	Cardiomyopathy	79184	BRCC3	ORPHA:280679
HP:0001638	Cardiomyopathy	4210	MEFV	ORPHA:3243
HP:0001638	Cardiomyopathy	4210	MEFV	OMIM:608068
HP:0001638	Cardiomyopathy	7840	ALMS1	OMIM:203800
HP:0001638	Cardiomyopathy	7840	ALMS1	ORPHA:64
HP:0001638	Cardiomyopathy	23522	KAT6B	OMIM:603736
HP:0001638	Cardiomyopathy	7156	TOP3A	OMIM:618097
HP:0001638	Cardiomyopathy	51086	TNNI3K	OMIM:616117
HP:0001638	Cardiomyopathy	8884	SLC5A6	OMIM:619903
HP:0001638	Cardiomyopathy	23230	VPS13A	ORPHA:2388
HP:0001638	Cardiomyopathy	3043	HBB	ORPHA:231214
HP:0001638	Cardiomyopathy	3043	HBB	ORPHA:231226
HP:0001638	Cardiomyopathy	10290	SPEG	OMIM:615959
HP:0001638	Cardiomyopathy	5590	PRKCZ	ORPHA:1606
HP:0001638	Cardiomyopathy	2563	GABRD	ORPHA:1606
HP:0001638	Cardiomyopathy	23013	SPEN	ORPHA:1606
HP:0001638	Cardiomyopathy	8510	MMP23B	ORPHA:1606
HP:0001638	Cardiomyopathy	7798	LUZP1	ORPHA:1606
HP:0001638	Cardiomyopathy	6497	SKI	ORPHA:1606
HP:0001638	Cardiomyopathy	10630	PDPN	ORPHA:1606
HP:0001638	Cardiomyopathy	3339	HSPG2	ORPHA:1606
HP:0001638	Cardiomyopathy	10277	UBE4B	ORPHA:1606
HP:0001638	Cardiomyopathy	8514	KCNAB2	ORPHA:1606
HP:0001638	Cardiomyopathy	473	RERE	ORPHA:1606
HP:0001638	Cardiomyopathy	54897	CASZ1	ORPHA:1606
HP:0001638	Cardiomyopathy	845	CASQ2	OMIM:604772
HP:0001638	Cardiomyopathy	10345	TRDN	OMIM:604772
HP:0001638	Cardiomyopathy	29123	ANKRD11	ORPHA:261250
HP:0001638	Cardiomyopathy	51816	ADA2	OMIM:615688
HP:0001638	Cardiomyopathy	2065	ERBB3	OMIM:607598
HP:0001638	Cardiomyopathy	6123	RPL3L	OMIM:619371
HP:0001638	Cardiomyopathy	55739	NAXD	OMIM:618321
HP:0001638	Cardiomyopathy	442721	LMOD2	OMIM:619897
HP:0001638	Cardiomyopathy	7518	XRCC4	OMIM:616541
HP:0001638	Cardiomyopathy	5236	PGM1	OMIM:614921
HP:0001638	Cardiomyopathy	25974	MMACHC	ORPHA:79282
HP:0001638	Cardiomyopathy	140628	GATA5	OMIM:617912
HP:0001638	Cardiomyopathy	7716	VEZF1	OMIM:620247
HP:0001638	Cardiomyopathy	6533	SLC6A6	OMIM:145350
HP:0001638	Cardiomyopathy	55679	LIMS2	OMIM:616827
HP:0001638	Cardiomyopathy	583	BBS2	OMIM:615981
HP:0001638	Cardiomyopathy	3762	KCNJ5	ORPHA:37553
HP:0001638	Cardiomyopathy	3759	KCNJ2	ORPHA:37553
HP:0001638	Cardiomyopathy	4633	MYL2	OMIM:608758
HP:0001638	Cardiomyopathy	54800	KLHL24	OMIM:620236
HP:0001638	Cardiomyopathy	6448	SGSH	OMIM:252900
HP:0001638	Cardiomyopathy	138050	HGSNAT	OMIM:252930
HP:0001638	Cardiomyopathy	4669	NAGLU	OMIM:252920
HP:0001638	Cardiomyopathy	4624	MYH6	OMIM:192600
HP:0001638	Cardiomyopathy	4625	MYH7	OMIM:192600
HP:0001638	Cardiomyopathy	859	CAV3	OMIM:192600
HP:0001638	Cardiomyopathy	85366	MYLK2	OMIM:192600
HP:0001638	Cardiomyopathy	2799	GNS	OMIM:252940
HP:0001638	Cardiomyopathy	51778	MYOZ2	OMIM:613838
HP:0001638	Cardiomyopathy	51422	PRKAG2	OMIM:600858
HP:0001638	Cardiomyopathy	64131	XYLT1	OMIM:264800
HP:0001638	Cardiomyopathy	64132	XYLT2	OMIM:264800
HP:0001638	Cardiomyopathy	368	ABCC6	OMIM:264800
HP:0001638	Cardiomyopathy	368	ABCC6	ORPHA:758
HP:0001638	Cardiomyopathy	55388	MCM10	OMIM:619313
HP:0001638	Cardiomyopathy	1062	CENPE	OMIM:616051
HP:0001638	Cardiomyopathy	51604	PIGT	OMIM:615398
HP:0001638	Cardiomyopathy	51604	PIGT	ORPHA:369837
HP:0001638	Cardiomyopathy	2316	FLNA	ORPHA:88630
HP:0001638	Cardiomyopathy	5167	ENPP1	ORPHA:758
HP:0001638	Cardiomyopathy	5156	PDGFRA	OMIM:607685
HP:0001638	Cardiomyopathy	2038	EPB42	ORPHA:822
HP:0001638	Cardiomyopathy	6521	SLC4A1	ORPHA:822
HP:0001638	Cardiomyopathy	6710	SPTB	ORPHA:822
HP:0001638	Cardiomyopathy	6708	SPTA1	ORPHA:822
HP:0001638	Cardiomyopathy	286	ANK1	ORPHA:822
HP:0001638	Cardiomyopathy	1349	COX7B	OMIM:309801
HP:0001638	Cardiomyopathy	3052	HCCS	OMIM:309801
HP:0001638	Cardiomyopathy	54539	NDUFB11	OMIM:309801
HP:0001638	Cardiomyopathy	54539	NDUFB11	OMIM:300952
HP:0001638	Cardiomyopathy	4724	NDUFS4	OMIM:252010
HP:0001638	Cardiomyopathy	7134	TNNC1	OMIM:613243
HP:0001638	Cardiomyopathy	1674	DES	ORPHA:98909
HP:0001638	Cardiomyopathy	1201	CLN3	OMIM:204200
HP:0001638	Cardiomyopathy	57538	ALPK3	OMIM:618052
HP:0001638	Cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0001638	Cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0001638	Cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0001638	Cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0001638	Cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0001638	Cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0001638	Cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0001638	Cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0001638	Cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0001638	Cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0001638	Cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0001638	Cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0001638	Cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0001638	Cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0001638	Cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0001638	Cardiomyopathy	10102	TSFM	OMIM:610505
HP:0001638	Cardiomyopathy	79188	TMEM43	OMIM:604400
HP:0001638	Cardiomyopathy	3728	JUP	OMIM:601214
HP:0001638	Cardiomyopathy	3728	JUP	OMIM:611528
HP:0001638	Cardiomyopathy	1829	DSG2	OMIM:610193
HP:0001638	Cardiomyopathy	5318	PKP2	OMIM:609040
HP:0001638	Cardiomyopathy	1824	DSC2	OMIM:610476
HP:0001638	Cardiomyopathy	7043	TGFB3	OMIM:107970
HP:0001638	Cardiomyopathy	1832	DSP	OMIM:607450
HP:0001638	Cardiomyopathy	57534	MIB1	OMIM:615092
HP:0001638	Cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0001638	Cardiomyopathy	6262	RYR2	OMIM:115000
HP:0001638	Cardiomyopathy	4841	NONO	OMIM:300967
HP:0001638	Cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0001638	Cardiomyopathy	7168	TPM1	OMIM:611878
HP:0001638	Cardiomyopathy	93649	MYOCD	OMIM:618719
HP:0001638	Cardiomyopathy	135	ADORA2A	ORPHA:363549
HP:0001638	Cardiomyopathy	6389	SDHA	ORPHA:3208
HP:0001638	Cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0001638	Cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0001638	Cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0001638	Cardiomyopathy	131118	DNAJC19	OMIM:610198
HP:0001638	Cardiomyopathy	114803	MYSM1	ORPHA:508542
HP:0001638	Cardiomyopathy	1837	DTNA	OMIM:604169
HP:0001638	Cardiomyopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0001638	Cardiomyopathy	100151683	RNU4ATAC	OMIM:616651
HP:0001638	Cardiomyopathy	7414	VCL	OMIM:613255
HP:0001638	Cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0001638	Cardiomyopathy	2702	GJA5	OMIM:108770
HP:0001638	Cardiomyopathy	4878	NPPA	OMIM:615745
HP:0001639	Hypertrophic cardiomyopathy	1374	CPT1A	ORPHA:156
HP:0001639	Hypertrophic cardiomyopathy	8243	SMC1A	OMIM:300590
HP:0001639	Hypertrophic cardiomyopathy	10128	LRPPRC	OMIM:220111
HP:0001639	Hypertrophic cardiomyopathy	10128	LRPPRC	ORPHA:70472
HP:0001639	Hypertrophic cardiomyopathy	8036	SHOC2	OMIM:607721
HP:0001639	Hypertrophic cardiomyopathy	8036	SHOC2	ORPHA:2701
HP:0001639	Hypertrophic cardiomyopathy	1410	CRYAB	OMIM:608810
HP:0001639	Hypertrophic cardiomyopathy	54539	NDUFB11	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	54539	NDUFB11	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	25915	NDUFAF3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	25915	NDUFAF3	ORPHA:70474
HP:0001639	Hypertrophic cardiomyopathy	51103	NDUFAF1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	51103	NDUFAF1	OMIM:618234
HP:0001639	Hypertrophic cardiomyopathy	91942	NDUFAF2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	91942	NDUFAF2	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	51300	TIMMDC1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4716	NDUFB10	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4723	NDUFV1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4723	NDUFV1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	55572	FOXRED1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55572	FOXRED1	OMIM:618241
HP:0001639	Hypertrophic cardiomyopathy	55572	FOXRED1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	284184	NDUFAF8	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55863	TMEM126B	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55863	TMEM126B	OMIM:618250
HP:0001639	Hypertrophic cardiomyopathy	4537	MT-ND3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4537	MT-ND3	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2	OMIM:618229
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4694	NDUFA1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	OMIM:618228
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	ORPHA:70474
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4726	NDUFS6	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4728	NDUFS8	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4728	NDUFS8	OMIM:618222
HP:0001639	Hypertrophic cardiomyopathy	4728	NDUFS8	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4722	NDUFS3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4722	NDUFS3	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	79133	NDUFAF5	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	79133	NDUFAF5	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	126328	NDUFA11	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	126328	NDUFA11	OMIM:618236
HP:0001639	Hypertrophic cardiomyopathy	4709	NDUFB3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	80224	NUBPL	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	29078	NDUFAF4	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	29078	NDUFAF4	OMIM:618237
HP:0001639	Hypertrophic cardiomyopathy	374291	NDUFS7	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	374291	NDUFS7	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4700	NDUFA6	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4536	MT-ND2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4536	MT-ND2	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4719	NDUFS1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4719	NDUFS1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4715	NDUFB9	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	26235	FBXL4	OMIM:615471
HP:0001639	Hypertrophic cardiomyopathy	8216	LZTR1	OMIM:616564
HP:0001639	Hypertrophic cardiomyopathy	8216	LZTR1	OMIM:605275
HP:0001639	Hypertrophic cardiomyopathy	4570	MT-TN	OMIM:220110
HP:0001639	Hypertrophic cardiomyopathy	6834	SURF1	OMIM:220110
HP:0001639	Hypertrophic cardiomyopathy	6834	SURF1	ORPHA:70474
HP:0001639	Hypertrophic cardiomyopathy	6834	SURF1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	55532	SLC30A10	ORPHA:309854
HP:0001639	Hypertrophic cardiomyopathy	6016	RIT1	OMIM:615355
HP:0001639	Hypertrophic cardiomyopathy	1355	COX15	OMIM:615119
HP:0001639	Hypertrophic cardiomyopathy	1355	COX15	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	OMIM:611554
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	OMIM:611553
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:115150
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:613706
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	25821	MTO1	OMIM:614702
HP:0001639	Hypertrophic cardiomyopathy	84334	COA8	ORPHA:436271
HP:0001639	Hypertrophic cardiomyopathy	57176	VARS2	OMIM:615917
HP:0001639	Hypertrophic cardiomyopathy	4577	MT-TV	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4508	MT-ATP6	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4566	MT-TK	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4566	MT-TK	ORPHA:225
HP:0001639	Hypertrophic cardiomyopathy	4566	MT-TK	ORPHA:1349
HP:0001639	Hypertrophic cardiomyopathy	54968	TMEM70	ORPHA:1194
HP:0001639	Hypertrophic cardiomyopathy	54968	TMEM70	OMIM:614052
HP:0001639	Hypertrophic cardiomyopathy	70	ACTC1	OMIM:612098
HP:0001639	Hypertrophic cardiomyopathy	84665	MYPN	OMIM:615248
HP:0001639	Hypertrophic cardiomyopathy	84665	MYPN	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	65082	VPS33A	OMIM:617303
HP:0001639	Hypertrophic cardiomyopathy	65082	VPS33A	ORPHA:505248
HP:0001639	Hypertrophic cardiomyopathy	3764	KCNJ8	ORPHA:1517
HP:0001639	Hypertrophic cardiomyopathy	10060	ABCC9	ORPHA:1517
HP:0001639	Hypertrophic cardiomyopathy	79158	GNPTAB	OMIM:252500
HP:0001639	Hypertrophic cardiomyopathy	1340	COX6B1	OMIM:619051
HP:0001639	Hypertrophic cardiomyopathy	84987	COX14	OMIM:619053
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	OMIM:300696
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	ORPHA:98863
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	OMIM:300280
HP:0001639	Hypertrophic cardiomyopathy	1757	SARDH	ORPHA:3129
HP:0001639	Hypertrophic cardiomyopathy	57158	JPH2	OMIM:613873
HP:0001639	Hypertrophic cardiomyopathy	5468	PPARG	ORPHA:79083
HP:0001639	Hypertrophic cardiomyopathy	5468	PPARG	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	5350	PLN	OMIM:613874
HP:0001639	Hypertrophic cardiomyopathy	91624	NEXN	OMIM:613876
HP:0001639	Hypertrophic cardiomyopathy	4625	MYH7	OMIM:608358
HP:0001639	Hypertrophic cardiomyopathy	4625	MYH7	OMIM:255160
HP:0001639	Hypertrophic cardiomyopathy	29967	LRP12	OMIM:164310
HP:0001639	Hypertrophic cardiomyopathy	672	BRCA1	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	10459	MAD2L2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	7516	XRCC2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	29089	UBE2T	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	675	BRCA2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55120	FANCL	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2177	FANCD2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2175	FANCA	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2187	FANCB	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2176	FANCC	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2178	FANCE	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2188	FANCF	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2189	FANCG	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	5888	RAD51	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	5889	RAD51C	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55159	RFWD3	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	83990	BRIP1	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	57697	FANCM	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	79728	PALB2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	84464	SLX4	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2072	ERCC4	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55215	FANCI	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0001639	Hypertrophic cardiomyopathy	83550	GPR101	ORPHA:963
HP:0001639	Hypertrophic cardiomyopathy	9049	AIP	ORPHA:963
HP:0001639	Hypertrophic cardiomyopathy	9049	AIP	ORPHA:99725
HP:0001639	Hypertrophic cardiomyopathy	2626	GATA4	ORPHA:251071
HP:0001639	Hypertrophic cardiomyopathy	1717	DHCR7	OMIM:270400
HP:0001639	Hypertrophic cardiomyopathy	7274	TTPA	ORPHA:96
HP:0001639	Hypertrophic cardiomyopathy	203286	ANKS6	OMIM:615382
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:363700
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:97685
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:638
HP:0001639	Hypertrophic cardiomyopathy	7386	UQCRFS1	OMIM:618775
HP:0001639	Hypertrophic cardiomyopathy	514	ATP5F1E	OMIM:614053
HP:0001639	Hypertrophic cardiomyopathy	5500	PPP1CB	ORPHA:2701
HP:0001639	Hypertrophic cardiomyopathy	5500	PPP1CB	OMIM:617506
HP:0001639	Hypertrophic cardiomyopathy	388962	BOLA3	OMIM:614299
HP:0001639	Hypertrophic cardiomyopathy	7273	TTN	OMIM:613765
HP:0001639	Hypertrophic cardiomyopathy	200734	SPRED2	OMIM:619745
HP:0001639	Hypertrophic cardiomyopathy	28976	ACAD9	ORPHA:99901
HP:0001639	Hypertrophic cardiomyopathy	28976	ACAD9	OMIM:611126
HP:0001639	Hypertrophic cardiomyopathy	3265	HRAS	OMIM:218040
HP:0001639	Hypertrophic cardiomyopathy	3265	HRAS	ORPHA:3071
HP:0001639	Hypertrophic cardiomyopathy	7168	TPM1	OMIM:115196
HP:0001639	Hypertrophic cardiomyopathy	4607	MYBPC3	OMIM:115197
HP:0001639	Hypertrophic cardiomyopathy	65080	MRPL44	OMIM:615395
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	OMIM:300438
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	ORPHA:391457
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	ORPHA:391428
HP:0001639	Hypertrophic cardiomyopathy	51422	PRKAG2	OMIM:600858
HP:0001639	Hypertrophic cardiomyopathy	51422	PRKAG2	OMIM:261740
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	OMIM:615279
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	7139	TNNT2	OMIM:115195
HP:0001639	Hypertrophic cardiomyopathy	7139	TNNT2	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	6804	STX1A	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	7461	CLIP2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	84277	DNAJC30	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	8468	FKBP6	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	5982	RFC2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	2969	GTF2I	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	3984	LIMK1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	9569	GTF2IRD1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	155382	VPS37D	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	155368	METTL27	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	114049	BUD23	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	7458	EIF4H	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	84163	GTF2IRD2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	9275	BCL7B	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	26608	TBL2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	653361	NCF1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	135886	TMEM270	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	51085	MLXIPL	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	9031	BAZ1B	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	2006	ELN	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	8557	TCAP	OMIM:607487
HP:0001639	Hypertrophic cardiomyopathy	81031	SLC2A10	ORPHA:3342
HP:0001639	Hypertrophic cardiomyopathy	4556	MT-TE	ORPHA:225
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	ORPHA:496790
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	OMIM:618810
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	OMIM:617183
HP:0001639	Hypertrophic cardiomyopathy	2548	GAA	ORPHA:308552
HP:0001639	Hypertrophic cardiomyopathy	27068	PPA2	OMIM:617222
HP:0001639	Hypertrophic cardiomyopathy	4285	MIPEP	OMIM:617228
HP:0001639	Hypertrophic cardiomyopathy	7276	TTR	ORPHA:85451
HP:0001639	Hypertrophic cardiomyopathy	64135	IFIH1	OMIM:615846
HP:0001639	Hypertrophic cardiomyopathy	64135	IFIH1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	6901	TAFAZZIN	OMIM:302060
HP:0001639	Hypertrophic cardiomyopathy	4221	MEN1	ORPHA:99725
HP:0001639	Hypertrophic cardiomyopathy	388015	RTL1	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	8788	DLK1	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	55384	MEG3	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:280365
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:2348
HP:0001639	Hypertrophic cardiomyopathy	5373	PMM2	ORPHA:79318
HP:0001639	Hypertrophic cardiomyopathy	2395	FXN	OMIM:229300
HP:0001639	Hypertrophic cardiomyopathy	84833	ATP5MK	OMIM:618683
HP:0001639	Hypertrophic cardiomyopathy	10661	KLF1	OMIM:613673
HP:0001639	Hypertrophic cardiomyopathy	125988	MICOS13	OMIM:618329
HP:0001639	Hypertrophic cardiomyopathy	6389	SDHA	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	6389	SDHA	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	6389	SDHA	OMIM:252011
HP:0001639	Hypertrophic cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	2720	GLB1	OMIM:230500
HP:0001639	Hypertrophic cardiomyopathy	2184	FAH	OMIM:276700
HP:0001639	Hypertrophic cardiomyopathy	5836	PYGL	ORPHA:369
HP:0001639	Hypertrophic cardiomyopathy	5837	PYGM	ORPHA:368
HP:0001639	Hypertrophic cardiomyopathy	2010	EMD	ORPHA:98863
HP:0001639	Hypertrophic cardiomyopathy	56246	MRAP	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	6770	STAR	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	4158	MC2R	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	23530	NNT	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	10587	TXNRD2	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	OMIM:600268
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	OMIM:609942
HP:0001639	Hypertrophic cardiomyopathy	57505	AARS2	OMIM:614096
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	OMIM:151100
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	4633	MYL2	OMIM:619424
HP:0001639	Hypertrophic cardiomyopathy	4633	MYL2	OMIM:608758
HP:0001639	Hypertrophic cardiomyopathy	1892	ECHS1	OMIM:616277
HP:0001639	Hypertrophic cardiomyopathy	1892	ECHS1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	51117	COQ4	OMIM:616276
HP:0001639	Hypertrophic cardiomyopathy	51067	YARS2	OMIM:613561
HP:0001639	Hypertrophic cardiomyopathy	58497	PRUNE1	ORPHA:544469
HP:0001639	Hypertrophic cardiomyopathy	7351	UCP2	ORPHA:276556
HP:0001639	Hypertrophic cardiomyopathy	6654	SOS1	OMIM:610733
HP:0001639	Hypertrophic cardiomyopathy	10535	RNASEH2A	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	84153	RNASEH2C	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	25939	SAMHD1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	79621	RNASEH2B	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	103	ADAR	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	11277	TREX1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	100147744	RNU7-1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	134353	LSM11	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	84705	GTPBP3	ORPHA:444013
HP:0001639	Hypertrophic cardiomyopathy	84705	GTPBP3	OMIM:616198
HP:0001639	Hypertrophic cardiomyopathy	79188	TMEM43	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	23345	SYNE1	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	23224	SYNE2	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	1738	DLD	OMIM:246900
HP:0001639	Hypertrophic cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0001639	Hypertrophic cardiomyopathy	7137	TNNI3	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	3033	HADH	OMIM:231530
HP:0001639	Hypertrophic cardiomyopathy	3033	HADH	ORPHA:71212
HP:0001639	Hypertrophic cardiomyopathy	8048	CSRP3	OMIM:612124
HP:0001639	Hypertrophic cardiomyopathy	5250	SLC25A3	ORPHA:91130
HP:0001639	Hypertrophic cardiomyopathy	5250	SLC25A3	OMIM:610773
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	OMIM:615418
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	OMIM:617184
HP:0001639	Hypertrophic cardiomyopathy	26007	TKFC	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	55750	AGK	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	55750	AGK	OMIM:212350
HP:0001639	Hypertrophic cardiomyopathy	56945	MRPS22	OMIM:611719
HP:0001639	Hypertrophic cardiomyopathy	4695	NDUFA2	OMIM:618235
HP:0001639	Hypertrophic cardiomyopathy	4695	NDUFA2	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4893	NRAS	OMIM:613224
HP:0001639	Hypertrophic cardiomyopathy	6833	ABCC8	ORPHA:276575
HP:0001639	Hypertrophic cardiomyopathy	3920	LAMP2	ORPHA:34587
HP:0001639	Hypertrophic cardiomyopathy	3920	LAMP2	OMIM:300257
HP:0001639	Hypertrophic cardiomyopathy	79068	FTO	OMIM:612938
HP:0001639	Hypertrophic cardiomyopathy	3767	KCNJ11	ORPHA:276580
HP:0001639	Hypertrophic cardiomyopathy	27235	COQ2	OMIM:607426
HP:0001639	Hypertrophic cardiomyopathy	4705	NDUFA10	OMIM:618243
HP:0001639	Hypertrophic cardiomyopathy	4705	NDUFA10	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	388753	COA6	OMIM:616501
HP:0001639	Hypertrophic cardiomyopathy	493753	COA5	OMIM:616500
HP:0001639	Hypertrophic cardiomyopathy	5605	MAP2K2	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	5605	MAP2K2	ORPHA:638
HP:0001639	Hypertrophic cardiomyopathy	284086	NEK8	OMIM:615415
HP:0001639	Hypertrophic cardiomyopathy	4634	MYL3	OMIM:608751
HP:0001639	Hypertrophic cardiomyopathy	2717	GLA	ORPHA:324
HP:0001639	Hypertrophic cardiomyopathy	1349	COX7B	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	3052	HCCS	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	63931	MRPS14	OMIM:618378
HP:0001639	Hypertrophic cardiomyopathy	22808	MRAS	OMIM:618499
HP:0001639	Hypertrophic cardiomyopathy	8802	SUCLG1	ORPHA:17
HP:0001639	Hypertrophic cardiomyopathy	2318	FLNC	OMIM:617047
HP:0001639	Hypertrophic cardiomyopathy	2318	FLNC	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	7289	TULP3	OMIM:619902
HP:0001639	Hypertrophic cardiomyopathy	88	ACTN2	OMIM:612158
HP:0001639	Hypertrophic cardiomyopathy	128989	TANGO2	OMIM:616878
HP:0001639	Hypertrophic cardiomyopathy	9531	BAG3	OMIM:612954
HP:0001639	Hypertrophic cardiomyopathy	9997	SCO2	OMIM:604377
HP:0001639	Hypertrophic cardiomyopathy	9997	SCO2	ORPHA:70474
HP:0001639	Hypertrophic cardiomyopathy	37	ACADVL	OMIM:201475
HP:0001639	Hypertrophic cardiomyopathy	4624	MYH6	OMIM:613251
HP:0001639	Hypertrophic cardiomyopathy	11019	LIAS	OMIM:614462
HP:0001639	Hypertrophic cardiomyopathy	26580	BSCL2	OMIM:269700
HP:0001639	Hypertrophic cardiomyopathy	26580	BSCL2	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	11222	MRPL3	OMIM:614582
HP:0001639	Hypertrophic cardiomyopathy	7414	VCL	OMIM:613255
HP:0001639	Hypertrophic cardiomyopathy	3643	INSR	ORPHA:508
HP:0001639	Hypertrophic cardiomyopathy	7167	TPI1	ORPHA:868
HP:0001639	Hypertrophic cardiomyopathy	10112	KIF20A	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	7040	TGFB1	ORPHA:1328
HP:0001639	Hypertrophic cardiomyopathy	4714	NDUFB8	ORPHA:70474
HP:0001639	Hypertrophic cardiomyopathy	6472	SHMT2	OMIM:619121
HP:0001639	Hypertrophic cardiomyopathy	60528	ELAC2	OMIM:615440
HP:0001639	Hypertrophic cardiomyopathy	55278	QRSL1	OMIM:618835
HP:0001639	Hypertrophic cardiomyopathy	202018	TAPT1	OMIM:616897
HP:0001639	Hypertrophic cardiomyopathy	4976	OPA1	OMIM:616896
HP:0001639	Hypertrophic cardiomyopathy	57570	TRMT5	OMIM:616539
HP:0001639	Hypertrophic cardiomyopathy	617	BCS1L	OMIM:124000
HP:0001639	Hypertrophic cardiomyopathy	80704	SLC19A3	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	55967	NDUFA12	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	51204	TACO1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	137682	NDUFAF6	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	5160	PDHA1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	100131801	PET100	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	123263	MTFMT	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	51079	NDUFA13	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	51601	LIPT1	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4697	NDUFA4	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4704	NDUFA9	ORPHA:255241
HP:0001639	Hypertrophic cardiomyopathy	4668	NAGA	ORPHA:79281
HP:0001639	Hypertrophic cardiomyopathy	4668	NAGA	ORPHA:79279
HP:0001639	Hypertrophic cardiomyopathy	51684	SUFU	OMIM:617757
HP:0001639	Hypertrophic cardiomyopathy	3593	IL12B	ORPHA:3287
HP:0001639	Hypertrophic cardiomyopathy	3106	HLA-B	ORPHA:3287
HP:0001639	Hypertrophic cardiomyopathy	6945	MLX	ORPHA:3287
HP:0001639	Hypertrophic cardiomyopathy	10555	AGPAT2	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	284119	CAVIN1	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	2353	FOS	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	857	CAV1	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	84233	TMEM126A	OMIM:612989
HP:0001639	Hypertrophic cardiomyopathy	51778	MYOZ2	OMIM:613838
HP:0001639	Hypertrophic cardiomyopathy	3030	HADHA	ORPHA:5
HP:0001639	Hypertrophic cardiomyopathy	129285	PPP1R21	OMIM:619383
HP:0001639	Hypertrophic cardiomyopathy	9054	NFS1	OMIM:619386
HP:0001639	Hypertrophic cardiomyopathy	523	ATP6V1A	OMIM:617403
HP:0001639	Hypertrophic cardiomyopathy	96459	FNIP1	OMIM:619705
HP:0001639	Hypertrophic cardiomyopathy	22868	FASTKD2	OMIM:618855
HP:0001639	Hypertrophic cardiomyopathy	4713	NDUFB7	OMIM:620135
HP:0001639	Hypertrophic cardiomyopathy	6584	SLC22A5	OMIM:212140
HP:0001639	Hypertrophic cardiomyopathy	54800	KLHL24	OMIM:620236
HP:0001639	Hypertrophic cardiomyopathy	6448	SGSH	OMIM:252900
HP:0001639	Hypertrophic cardiomyopathy	138050	HGSNAT	OMIM:252930
HP:0001639	Hypertrophic cardiomyopathy	4669	NAGLU	OMIM:252920
HP:0001639	Hypertrophic cardiomyopathy	859	CAV3	OMIM:192600
HP:0001639	Hypertrophic cardiomyopathy	85366	MYLK2	OMIM:192600
HP:0001639	Hypertrophic cardiomyopathy	2799	GNS	OMIM:252940
HP:0001639	Hypertrophic cardiomyopathy	4724	NDUFS4	OMIM:252010
HP:0001639	Hypertrophic cardiomyopathy	7134	TNNC1	OMIM:613243
HP:0001639	Hypertrophic cardiomyopathy	1674	DES	ORPHA:98909
HP:0001639	Hypertrophic cardiomyopathy	1201	CLN3	OMIM:204200
HP:0001639	Hypertrophic cardiomyopathy	57538	ALPK3	OMIM:618052
HP:0001639	Hypertrophic cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0001639	Hypertrophic cardiomyopathy	10102	TSFM	OMIM:610505
HP:0011850	Parotitis	7852	CXCR4	ORPHA:51636
HP:0011850	Parotitis	5696	PSMB8	OMIM:256040
HP:0011850	Parotitis	56244	BTNL2	ORPHA:797
HP:0011850	Parotitis	3123	HLA-DRB1	ORPHA:797
HP:0011852	Chylopericardium	7248	TSC1	ORPHA:538
HP:0011852	Chylopericardium	7249	TSC2	ORPHA:538
HP:0011854	Hemoperitoneum	5054	SERPINE1	ORPHA:465
HP:0011854	Hemoperitoneum	2159	F10	ORPHA:328
HP:0011855	Pharyngeal edema	7512	XPNPEP2	ORPHA:100057
HP:0011855	Pharyngeal edema	710	SERPING1	ORPHA:100050
HP:0011855	Pharyngeal edema	710	SERPING1	OMIM:106100
HP:0011855	Pharyngeal edema	2161	F12	OMIM:610618
HP:0011856	Pica	57688	ZSWIM6	OMIM:617865
HP:0011856	Pica	283209	PGM2L1	OMIM:620191
HP:0011856	Pica	1725	DHPS	OMIM:618480
HP:0011856	Pica	55250	ELP2	OMIM:617270
HP:0011856	Pica	8621	CDK13	OMIM:617360
HP:0011856	Pica	55870	ASH1L	OMIM:617796
HP:0011856	Pica	57680	CHD8	OMIM:615032
HP:0011858	Reduced factor IX activity	2677	GGCX	OMIM:277450
HP:0011858	Reduced factor IX activity	2677	GGCX	OMIM:610842
HP:0011858	Reduced factor IX activity	2158	F9	OMIM:306900
HP:0011858	Reduced factor IX activity	5373	PMM2	ORPHA:79318
HP:0011858	Reduced factor IX activity	2542	SLC37A4	OMIM:619525
HP:0011858	Reduced factor IX activity	4247	MGAT2	OMIM:212066
HP:0011858	Reduced factor IX activity	79001	VKORC1	OMIM:607473
HP:0011859	Punctate keratitis	10804	GJB6	ORPHA:477
HP:0011859	Punctate keratitis	2706	GJB2	ORPHA:477
HP:0011859	Punctate keratitis	2706	GJB2	OMIM:602540
HP:0011859	Punctate keratitis	4072	EPCAM	ORPHA:92050
HP:0011859	Punctate keratitis	105371045	PERCC1	ORPHA:92050
HP:0011859	Punctate keratitis	22861	NLRP1	OMIM:617388
HP:0011859	Punctate keratitis	5339	PLEC	OMIM:226670
HP:0008800	Limited hip movement	667	DST	OMIM:614653
HP:0008800	Limited hip movement	1311	COMP	ORPHA:750
HP:0008800	Limited hip movement	1311	COMP	OMIM:177170
HP:0008800	Limited hip movement	2261	FGFR3	OMIM:100800
HP:0008800	Limited hip movement	339855	KY	OMIM:617114
HP:0008800	Limited hip movement	7169	TPM2	OMIM:108120
HP:0008800	Limited hip movement	9469	CHST3	OMIM:143095
HP:0008800	Limited hip movement	4784	NFIX	OMIM:602535
HP:0008800	Limited hip movement	7138	TNNT1	OMIM:605355
HP:0008800	Limited hip movement	63895	PIEZO2	OMIM:114300
HP:0008800	Limited hip movement	4148	MATN3	ORPHA:93311
HP:0008800	Limited hip movement	5745	PTH1R	ORPHA:79106
HP:0008800	Limited hip movement	2131	EXT1	ORPHA:321
HP:0008800	Limited hip movement	2132	EXT2	ORPHA:321
HP:0008800	Limited hip movement	8291	DYSF	ORPHA:268
HP:0008800	Limited hip movement	4000	LMNA	ORPHA:740
HP:0008800	Limited hip movement	10269	ZMPSTE24	ORPHA:740
HP:0008800	Limited hip movement	7273	TTN	ORPHA:178464
HP:0008800	Limited hip movement	4625	MYH7	ORPHA:437572
HP:0008800	Limited hip movement	59341	TRPV4	ORPHA:86820
HP:0008800	Limited hip movement	1280	COL2A1	ORPHA:86820
HP:0008800	Limited hip movement	1280	COL2A1	OMIM:183900
HP:0008800	Limited hip movement	1280	COL2A1	ORPHA:93346
HP:0008800	Limited hip movement	123606	NIPA1	ORPHA:100988
HP:0008800	Limited hip movement	10082	GPC6	OMIM:258315
HP:0008800	Limited hip movement	3081	HGD	OMIM:203500
HP:0008801	Hypoplasia of the lesser trochanter	9496	TBX4	OMIM:147891
HP:0008802	Hypoplasia of the femoral head	3459	IFNGR1	OMIM:209950
HP:0008802	Hypoplasia of the femoral head	1836	SLC26A2	OMIM:226900
HP:0008802	Hypoplasia of the femoral head	3425	IDUA	OMIM:607014
HP:0008802	Hypoplasia of the femoral head	10940	POP1	OMIM:617396
HP:0008802	Hypoplasia of the femoral head	26146	TRAF3IP1	OMIM:616629
HP:0008804	Broad femoral head	100151683	RNU4ATAC	ORPHA:353298
HP:0001640	Cardiomegaly	137814	NKX2-6	ORPHA:3384
HP:0001640	Cardiomegaly	23129	PLXND1	ORPHA:3384
HP:0001640	Cardiomegaly	51422	PRKAG2	OMIM:261740
HP:0001640	Cardiomegaly	1832	DSP	ORPHA:158687
HP:0001640	Cardiomegaly	3728	JUP	ORPHA:158687
HP:0001640	Cardiomegaly	3728	JUP	OMIM:601214
HP:0001640	Cardiomegaly	25821	MTO1	OMIM:614702
HP:0001640	Cardiomegaly	4758	NEU1	OMIM:256550
HP:0001640	Cardiomegaly	2629	GBA1	OMIM:608013
HP:0001640	Cardiomegaly	2629	GBA1	OMIM:231005
HP:0001640	Cardiomegaly	8291	DYSF	ORPHA:268
HP:0001640	Cardiomegaly	55315	SLC29A3	OMIM:602782
HP:0001640	Cardiomegaly	91754	NEK9	OMIM:617022
HP:0001640	Cardiomegaly	1193	CLIC2	OMIM:300886
HP:0001640	Cardiomegaly	1193	CLIC2	ORPHA:324410
HP:0001640	Cardiomegaly	3074	HEXB	OMIM:268800
HP:0001640	Cardiomegaly	5191	PEX7	OMIM:266500
HP:0001640	Cardiomegaly	5264	PHYH	OMIM:266500
HP:0001640	Cardiomegaly	1376	CPT2	OMIM:600649
HP:0001640	Cardiomegaly	1376	CPT2	OMIM:608836
HP:0001640	Cardiomegaly	1376	CPT2	ORPHA:228308
HP:0001640	Cardiomegaly	3764	KCNJ8	ORPHA:1517
HP:0001640	Cardiomegaly	10060	ABCC9	ORPHA:1517
HP:0001640	Cardiomegaly	10060	ABCC9	OMIM:239850
HP:0001640	Cardiomegaly	79158	GNPTAB	OMIM:252500
HP:0001640	Cardiomegaly	1340	COX6B1	OMIM:619051
HP:0001640	Cardiomegaly	7547	ZIC3	OMIM:306955
HP:0001640	Cardiomegaly	64135	IFIH1	OMIM:182250
HP:0001640	Cardiomegaly	64135	IFIH1	ORPHA:51
HP:0001640	Cardiomegaly	4718	NDUFC2	OMIM:619170
HP:0001640	Cardiomegaly	3043	HBB	OMIM:603903
HP:0001640	Cardiomegaly	8260	NAA10	OMIM:300855
HP:0001640	Cardiomegaly	6773	STAT2	OMIM:618886
HP:0001640	Cardiomegaly	708	C1QBP	OMIM:617713
HP:0001640	Cardiomegaly	7276	TTR	OMIM:105210
HP:0001640	Cardiomegaly	7276	TTR	ORPHA:85447
HP:0001640	Cardiomegaly	7276	TTR	ORPHA:85451
HP:0001640	Cardiomegaly	4547	MTTP	ORPHA:14
HP:0001640	Cardiomegaly	9377	COX5A	OMIM:619064
HP:0001640	Cardiomegaly	171023	ASXL1	ORPHA:97297
HP:0001640	Cardiomegaly	9896	FIG4	ORPHA:3472
HP:0001640	Cardiomegaly	55697	VAC14	ORPHA:3472
HP:0001640	Cardiomegaly	22884	WDR37	OMIM:618652
HP:0001640	Cardiomegaly	88	ACTN2	OMIM:618654
HP:0001640	Cardiomegaly	5167	ENPP1	OMIM:208000
HP:0001640	Cardiomegaly	5167	ENPP1	ORPHA:51608
HP:0001640	Cardiomegaly	4591	TRIM37	OMIM:253250
HP:0001640	Cardiomegaly	3077	HFE	OMIM:235200
HP:0001640	Cardiomegaly	3077	HFE	ORPHA:465508
HP:0001640	Cardiomegaly	650	BMP2	OMIM:235200
HP:0001640	Cardiomegaly	3028	HSD17B10	ORPHA:391428
HP:0001640	Cardiomegaly	37	ACADVL	OMIM:201475
HP:0001640	Cardiomegaly	4607	MYBPC3	OMIM:115197
HP:0001640	Cardiomegaly	57061	HYMAI	ORPHA:96191
HP:0001640	Cardiomegaly	5325	PLAGL1	ORPHA:96191
HP:0001640	Cardiomegaly	368	ABCC6	ORPHA:51608
HP:0001640	Cardiomegaly	368	ABCC6	OMIM:614473
HP:0001640	Cardiomegaly	94005	PIGS	OMIM:618143
HP:0001640	Cardiomegaly	54914	FOCAD	OMIM:619991
HP:0001640	Cardiomegaly	2517	FUCA1	OMIM:230000
HP:0001640	Cardiomegaly	2517	FUCA1	ORPHA:349
HP:0001640	Cardiomegaly	2548	GAA	OMIM:232300
HP:0001640	Cardiomegaly	2548	GAA	ORPHA:308552
HP:0001640	Cardiomegaly	4519	MT-CYB	ORPHA:137675
HP:0001640	Cardiomegaly	6804	STX1A	ORPHA:904
HP:0001640	Cardiomegaly	7461	CLIP2	ORPHA:904
HP:0001640	Cardiomegaly	84277	DNAJC30	ORPHA:904
HP:0001640	Cardiomegaly	8468	FKBP6	ORPHA:904
HP:0001640	Cardiomegaly	5982	RFC2	ORPHA:904
HP:0001640	Cardiomegaly	2969	GTF2I	ORPHA:904
HP:0001640	Cardiomegaly	3984	LIMK1	ORPHA:904
HP:0001640	Cardiomegaly	9569	GTF2IRD1	ORPHA:904
HP:0001640	Cardiomegaly	155382	VPS37D	ORPHA:904
HP:0001640	Cardiomegaly	155368	METTL27	ORPHA:904
HP:0001640	Cardiomegaly	114049	BUD23	ORPHA:904
HP:0001640	Cardiomegaly	7458	EIF4H	ORPHA:904
HP:0001640	Cardiomegaly	84163	GTF2IRD2	ORPHA:904
HP:0001640	Cardiomegaly	9275	BCL7B	ORPHA:904
HP:0001640	Cardiomegaly	26608	TBL2	ORPHA:904
HP:0001640	Cardiomegaly	653361	NCF1	ORPHA:904
HP:0001640	Cardiomegaly	135886	TMEM270	ORPHA:904
HP:0001640	Cardiomegaly	51085	MLXIPL	ORPHA:904
HP:0001640	Cardiomegaly	9031	BAZ1B	ORPHA:904
HP:0001640	Cardiomegaly	2006	ELN	ORPHA:904
HP:0001640	Cardiomegaly	2006	ELN	ORPHA:91387
HP:0001640	Cardiomegaly	4629	MYH11	ORPHA:229
HP:0001640	Cardiomegaly	4629	MYH11	ORPHA:91387
HP:0001640	Cardiomegaly	83475	DOHH	OMIM:620066
HP:0001640	Cardiomegaly	1674	DES	OMIM:604765
HP:0001640	Cardiomegaly	374354	NHLRC2	OMIM:618278
HP:0001640	Cardiomegaly	4841	NONO	OMIM:300967
HP:0001640	Cardiomegaly	202018	TAPT1	OMIM:616897
HP:0001640	Cardiomegaly	5188	GATB	OMIM:618838
HP:0001640	Cardiomegaly	200424	TET3	OMIM:618798
HP:0001640	Cardiomegaly	5573	PRKAR1A	ORPHA:615
HP:0001640	Cardiomegaly	7841	MOGS	ORPHA:79330
HP:0001640	Cardiomegaly	2273	FHL1	OMIM:300280
HP:0001640	Cardiomegaly	34	ACADM	ORPHA:42
HP:0001640	Cardiomegaly	775	CACNA1C	OMIM:601005
HP:0001640	Cardiomegaly	57107	PDSS2	ORPHA:255249
HP:0001640	Cardiomegaly	27235	COQ2	ORPHA:255249
HP:0001640	Cardiomegaly	3920	LAMP2	OMIM:300257
HP:0001640	Cardiomegaly	6389	SDHA	OMIM:619259
HP:0001640	Cardiomegaly	26503	SLC17A5	OMIM:269920
HP:0001640	Cardiomegaly	1028	CDKN1C	OMIM:130650
HP:0001640	Cardiomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0001640	Cardiomegaly	3481	IGF2	OMIM:130650
HP:0001640	Cardiomegaly	3784	KCNQ1	OMIM:130650
HP:0001640	Cardiomegaly	1374	CPT1A	OMIM:255120
HP:0001640	Cardiomegaly	4668	NAGA	ORPHA:79280
HP:0001640	Cardiomegaly	5236	PGM1	OMIM:614921
HP:0001640	Cardiomegaly	654	BMP6	ORPHA:465508
HP:0001640	Cardiomegaly	9469	CHST3	OMIM:245600
HP:0001640	Cardiomegaly	26229	B3GAT3	OMIM:245600
HP:0001640	Cardiomegaly	57538	ALPK3	OMIM:618052
HP:0001640	Cardiomegaly	57505	AARS2	OMIM:614096
HP:0001640	Cardiomegaly	51025	PAM16	OMIM:613320
HP:0001640	Cardiomegaly	4713	NDUFB7	OMIM:620135
HP:0001640	Cardiomegaly	5696	PSMB8	OMIM:256040
HP:0001640	Cardiomegaly	4669	NAGLU	OMIM:252920
HP:0001640	Cardiomegaly	10535	RNASEH2A	ORPHA:51
HP:0001640	Cardiomegaly	84153	RNASEH2C	ORPHA:51
HP:0001640	Cardiomegaly	25939	SAMHD1	ORPHA:51
HP:0001640	Cardiomegaly	79621	RNASEH2B	ORPHA:51
HP:0001640	Cardiomegaly	103	ADAR	ORPHA:51
HP:0001640	Cardiomegaly	11277	TREX1	ORPHA:51
HP:0001640	Cardiomegaly	100147744	RNU7-1	ORPHA:51
HP:0001640	Cardiomegaly	134353	LSM11	ORPHA:51
HP:0001640	Cardiomegaly	7046	TGFBR1	ORPHA:91387
HP:0001640	Cardiomegaly	7048	TGFBR2	ORPHA:91387
HP:0001640	Cardiomegaly	4015	LOX	ORPHA:91387
HP:0001640	Cardiomegaly	4087	SMAD2	ORPHA:91387
HP:0001640	Cardiomegaly	7043	TGFB3	ORPHA:91387
HP:0001640	Cardiomegaly	4088	SMAD3	ORPHA:91387
HP:0001640	Cardiomegaly	7042	TGFB2	ORPHA:91387
HP:0001640	Cardiomegaly	4089	SMAD4	ORPHA:91387
HP:0001640	Cardiomegaly	2200	FBN1	ORPHA:91387
HP:0001640	Cardiomegaly	59	ACTA2	ORPHA:91387
HP:0001640	Cardiomegaly	5592	PRKG1	ORPHA:91387
HP:0001640	Cardiomegaly	2301	FOXE3	ORPHA:91387
HP:0001640	Cardiomegaly	4144	MAT2A	ORPHA:91387
HP:0001640	Cardiomegaly	23493	HEY2	ORPHA:91387
HP:0001640	Cardiomegaly	8076	MFAP5	ORPHA:91387
HP:0001640	Cardiomegaly	4638	MYLK	ORPHA:91387
HP:0001640	Cardiomegaly	6584	SLC22A5	OMIM:212140
HP:0001641	Abnormal pulmonary valve morphology	9839	ZEB2	ORPHA:261537
HP:0001641	Abnormal pulmonary valve morphology	9839	ZEB2	ORPHA:261552
HP:0001641	Abnormal pulmonary valve morphology	54968	TMEM70	ORPHA:1194
HP:0001641	Abnormal pulmonary valve morphology	374654	KIF7	OMIM:200990
HP:0001641	Abnormal pulmonary valve morphology	1859	DYRK1A	ORPHA:268261
HP:0001641	Abnormal pulmonary valve morphology	3423	IDS	ORPHA:217085
HP:0001641	Abnormal pulmonary valve morphology	3423	IDS	ORPHA:217093
HP:0001641	Abnormal pulmonary valve morphology	84282	RNF135	ORPHA:137634
HP:0001641	Abnormal pulmonary valve morphology	22800	RRAS2	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	867	CBL	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	8216	LZTR1	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	6016	RIT1	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	6237	RRAS	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	5894	RAF1	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	5894	RAF1	ORPHA:500
HP:0001641	Abnormal pulmonary valve morphology	22808	MRAS	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	3845	KRAS	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	200734	SPRED2	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	4893	NRAS	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	6654	SOS1	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	6655	SOS2	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	5781	PTPN11	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	5781	PTPN11	ORPHA:500
HP:0001641	Abnormal pulmonary valve morphology	5922	RASA2	ORPHA:648
HP:0001641	Abnormal pulmonary valve morphology	6299	SALL1	ORPHA:857
HP:0001641	Abnormal pulmonary valve morphology	51339	DACT1	ORPHA:857
HP:0001641	Abnormal pulmonary valve morphology	64359	NXN	ORPHA:1507
HP:0001641	Abnormal pulmonary valve morphology	4920	ROR2	ORPHA:1507
HP:0001641	Abnormal pulmonary valve morphology	1312	COMT	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	221037	JMJD1C	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	2812	GP1BB	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	6239	RREB1	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	6899	TBX1	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	7290	HIRA	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	9632	SEC24C	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	7353	UFD1	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	421	ARVCF	ORPHA:567
HP:0001641	Abnormal pulmonary valve morphology	3516	RBPJ	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	4851	NOTCH1	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	57514	ARHGAP31	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	57572	DOCK6	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	285203	EOGT	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	54567	DLL4	ORPHA:974
HP:0001641	Abnormal pulmonary valve morphology	673	BRAF	ORPHA:500
HP:0001641	Abnormal pulmonary valve morphology	10312	TCIRG1	ORPHA:667
HP:0001641	Abnormal pulmonary valve morphology	1186	CLCN7	ORPHA:667
HP:0001641	Abnormal pulmonary valve morphology	29887	SNX10	ORPHA:667
HP:0001641	Abnormal pulmonary valve morphology	8600	TNFSF11	ORPHA:667
HP:0001641	Abnormal pulmonary valve morphology	2324	FLT4	OMIM:618780
HP:0001641	Abnormal pulmonary valve morphology	1654	DDX3X	OMIM:300958
HP:0001641	Abnormal pulmonary valve morphology	10524	KAT5	OMIM:619103
HP:0001641	Abnormal pulmonary valve morphology	374879	ZNF699	OMIM:619488
HP:0001641	Abnormal pulmonary valve morphology	11128	POLR3A	ORPHA:3455
HP:0001641	Abnormal pulmonary valve morphology	7046	TGFBR1	OMIM:609192
HP:0001641	Abnormal pulmonary valve morphology	7048	TGFBR2	OMIM:610168
HP:0001641	Abnormal pulmonary valve morphology	145173	B3GLCT	ORPHA:709
HP:0001641	Abnormal pulmonary valve morphology	5573	PRKAR1A	ORPHA:615
HP:0001641	Abnormal pulmonary valve morphology	5573	PRKAR1A	OMIM:255960
HP:0001641	Abnormal pulmonary valve morphology	5422	POLA1	OMIM:301030
HP:0001641	Abnormal pulmonary valve morphology	2294	FOXF1	OMIM:265380
HP:0001641	Abnormal pulmonary valve morphology	2294	FOXF1	ORPHA:210122
HP:0001641	Abnormal pulmonary valve morphology	9487	PIGL	ORPHA:3474
HP:0001641	Abnormal pulmonary valve morphology	1616	DAXX	ORPHA:100075
HP:0001641	Abnormal pulmonary valve morphology	546	ATRX	ORPHA:100075
HP:0001642	Pulmonic stenosis	4088	SMAD3	ORPHA:284984
HP:0001642	Pulmonic stenosis	4088	SMAD3	OMIM:613795
HP:0001642	Pulmonic stenosis	8036	SHOC2	OMIM:607721
HP:0001642	Pulmonic stenosis	8036	SHOC2	ORPHA:2701
HP:0001642	Pulmonic stenosis	137814	NKX2-6	ORPHA:3384
HP:0001642	Pulmonic stenosis	23129	PLXND1	ORPHA:3384
HP:0001642	Pulmonic stenosis	1281	COL3A1	OMIM:618343
HP:0001642	Pulmonic stenosis	6909	TBX2	OMIM:618223
HP:0001642	Pulmonic stenosis	10112	KIF20A	OMIM:619433
HP:0001642	Pulmonic stenosis	8216	LZTR1	OMIM:616564
HP:0001642	Pulmonic stenosis	8216	LZTR1	OMIM:605275
HP:0001642	Pulmonic stenosis	151648	SGO1	OMIM:616201
HP:0001642	Pulmonic stenosis	91754	NEK9	OMIM:614262
HP:0001642	Pulmonic stenosis	6016	RIT1	OMIM:615355
HP:0001642	Pulmonic stenosis	132	ADK	OMIM:614300
HP:0001642	Pulmonic stenosis	6885	MAP3K7	OMIM:617137
HP:0001642	Pulmonic stenosis	673	BRAF	OMIM:115150
HP:0001642	Pulmonic stenosis	673	BRAF	ORPHA:1340
HP:0001642	Pulmonic stenosis	673	BRAF	ORPHA:500
HP:0001642	Pulmonic stenosis	673	BRAF	OMIM:613706
HP:0001642	Pulmonic stenosis	673	BRAF	OMIM:163950
HP:0001642	Pulmonic stenosis	84282	RNF135	ORPHA:137634
HP:0001642	Pulmonic stenosis	4091	SMAD6	OMIM:614823
HP:0001642	Pulmonic stenosis	5894	RAF1	OMIM:611553
HP:0001642	Pulmonic stenosis	5894	RAF1	ORPHA:500
HP:0001642	Pulmonic stenosis	145173	B3GLCT	ORPHA:709
HP:0001642	Pulmonic stenosis	145173	B3GLCT	OMIM:261540
HP:0001642	Pulmonic stenosis	2657	GDF1	OMIM:613854
HP:0001642	Pulmonic stenosis	2657	GDF1	OMIM:208530
HP:0001642	Pulmonic stenosis	2626	GATA4	OMIM:614429
HP:0001642	Pulmonic stenosis	2626	GATA4	OMIM:607941
HP:0001642	Pulmonic stenosis	9839	ZEB2	OMIM:235730
HP:0001642	Pulmonic stenosis	9839	ZEB2	ORPHA:261552
HP:0001642	Pulmonic stenosis	9839	ZEB2	ORPHA:261537
HP:0001642	Pulmonic stenosis	64220	STRA6	OMIM:601186
HP:0001642	Pulmonic stenosis	10093	ARPC4	OMIM:620141
HP:0001642	Pulmonic stenosis	55593	OTUD5	OMIM:301056
HP:0001642	Pulmonic stenosis	2627	GATA6	OMIM:600001
HP:0001642	Pulmonic stenosis	2627	GATA6	ORPHA:2255
HP:0001642	Pulmonic stenosis	55315	SLC29A3	OMIM:602782
HP:0001642	Pulmonic stenosis	23118	TAB2	ORPHA:228410
HP:0001642	Pulmonic stenosis	1387	CREBBP	ORPHA:353281
HP:0001642	Pulmonic stenosis	1387	CREBBP	ORPHA:353277
HP:0001642	Pulmonic stenosis	23291	FBXW11	OMIM:618914
HP:0001642	Pulmonic stenosis	4893	NRAS	OMIM:613224
HP:0001642	Pulmonic stenosis	998	CDC42	OMIM:616737
HP:0001642	Pulmonic stenosis	80055	PGAP1	OMIM:615802
HP:0001642	Pulmonic stenosis	2033	EP300	ORPHA:353284
HP:0001642	Pulmonic stenosis	3097	HIVEP2	OMIM:616977
HP:0001642	Pulmonic stenosis	9126	SMC3	OMIM:610759
HP:0001642	Pulmonic stenosis	4763	NF1	OMIM:601321
HP:0001642	Pulmonic stenosis	4763	NF1	ORPHA:363700
HP:0001642	Pulmonic stenosis	4763	NF1	ORPHA:97685
HP:0001642	Pulmonic stenosis	4763	NF1	OMIM:193520
HP:0001642	Pulmonic stenosis	4763	NF1	ORPHA:638
HP:0001642	Pulmonic stenosis	7547	ZIC3	OMIM:306955
HP:0001642	Pulmonic stenosis	284058	KANSL1	ORPHA:363958
HP:0001642	Pulmonic stenosis	284058	KANSL1	ORPHA:363965
HP:0001642	Pulmonic stenosis	284058	KANSL1	OMIM:610443
HP:0001642	Pulmonic stenosis	9469	CHST3	OMIM:143095
HP:0001642	Pulmonic stenosis	1757	SARDH	ORPHA:3129
HP:0001642	Pulmonic stenosis	92579	G6PC3	OMIM:612541
HP:0001642	Pulmonic stenosis	9378	NRXN1	OMIM:614325
HP:0001642	Pulmonic stenosis	5604	MAP2K1	ORPHA:1340
HP:0001642	Pulmonic stenosis	5604	MAP2K1	OMIM:615279
HP:0001642	Pulmonic stenosis	5604	MAP2K1	OMIM:163950
HP:0001642	Pulmonic stenosis	5605	MAP2K2	ORPHA:1340
HP:0001642	Pulmonic stenosis	5605	MAP2K2	OMIM:615280
HP:0001642	Pulmonic stenosis	5605	MAP2K2	ORPHA:638
HP:0001642	Pulmonic stenosis	3845	KRAS	ORPHA:1340
HP:0001642	Pulmonic stenosis	3845	KRAS	OMIM:609942
HP:0001642	Pulmonic stenosis	284086	NEK8	OMIM:615415
HP:0001642	Pulmonic stenosis	6597	SMARCA4	OMIM:614609
HP:0001642	Pulmonic stenosis	3265	HRAS	ORPHA:3071
HP:0001642	Pulmonic stenosis	3265	HRAS	OMIM:218040
HP:0001642	Pulmonic stenosis	203286	ANKS6	OMIM:615382
HP:0001642	Pulmonic stenosis	22808	MRAS	OMIM:618499
HP:0001642	Pulmonic stenosis	5718	PSMD12	ORPHA:529962
HP:0001642	Pulmonic stenosis	2186	BPTF	ORPHA:529962
HP:0001642	Pulmonic stenosis	7403	KDM6A	OMIM:300867
HP:0001642	Pulmonic stenosis	5500	PPP1CB	ORPHA:2701
HP:0001642	Pulmonic stenosis	5500	PPP1CB	OMIM:617506
HP:0001642	Pulmonic stenosis	23152	CIC	OMIM:617600
HP:0001642	Pulmonic stenosis	93627	TBCK	ORPHA:488632
HP:0001642	Pulmonic stenosis	55636	CHD7	OMIM:214800
HP:0001642	Pulmonic stenosis	200734	SPRED2	OMIM:619745
HP:0001642	Pulmonic stenosis	81794	ADAMTS10	OMIM:277600
HP:0001642	Pulmonic stenosis	81794	ADAMTS10	ORPHA:3449
HP:0001642	Pulmonic stenosis	11285	B4GALT7	ORPHA:75496
HP:0001642	Pulmonic stenosis	2006	ELN	OMIM:185500
HP:0001642	Pulmonic stenosis	2006	ELN	ORPHA:904
HP:0001642	Pulmonic stenosis	2006	ELN	OMIM:194050
HP:0001642	Pulmonic stenosis	2324	FLT4	OMIM:618780
HP:0001642	Pulmonic stenosis	3490	IGFBP7	OMIM:614224
HP:0001642	Pulmonic stenosis	57514	ARHGAP31	OMIM:100300
HP:0001642	Pulmonic stenosis	6804	STX1A	ORPHA:904
HP:0001642	Pulmonic stenosis	7461	CLIP2	ORPHA:904
HP:0001642	Pulmonic stenosis	84277	DNAJC30	ORPHA:904
HP:0001642	Pulmonic stenosis	8468	FKBP6	ORPHA:904
HP:0001642	Pulmonic stenosis	5982	RFC2	ORPHA:904
HP:0001642	Pulmonic stenosis	2969	GTF2I	ORPHA:904
HP:0001642	Pulmonic stenosis	3984	LIMK1	ORPHA:904
HP:0001642	Pulmonic stenosis	9569	GTF2IRD1	ORPHA:904
HP:0001642	Pulmonic stenosis	155382	VPS37D	ORPHA:904
HP:0001642	Pulmonic stenosis	155368	METTL27	ORPHA:904
HP:0001642	Pulmonic stenosis	114049	BUD23	ORPHA:904
HP:0001642	Pulmonic stenosis	7458	EIF4H	ORPHA:904
HP:0001642	Pulmonic stenosis	84163	GTF2IRD2	ORPHA:904
HP:0001642	Pulmonic stenosis	9275	BCL7B	ORPHA:904
HP:0001642	Pulmonic stenosis	26608	TBL2	ORPHA:904
HP:0001642	Pulmonic stenosis	653361	NCF1	ORPHA:904
HP:0001642	Pulmonic stenosis	135886	TMEM270	ORPHA:904
HP:0001642	Pulmonic stenosis	51085	MLXIPL	ORPHA:904
HP:0001642	Pulmonic stenosis	51085	MLXIPL	OMIM:194050
HP:0001642	Pulmonic stenosis	9031	BAZ1B	ORPHA:904
HP:0001642	Pulmonic stenosis	8452	CUL3	OMIM:619239
HP:0001642	Pulmonic stenosis	2218	FKTN	OMIM:253800
HP:0001642	Pulmonic stenosis	171019	ADAMTS19	OMIM:620067
HP:0001642	Pulmonic stenosis	5781	PTPN11	ORPHA:500
HP:0001642	Pulmonic stenosis	5781	PTPN11	OMIM:151100
HP:0001642	Pulmonic stenosis	5781	PTPN11	OMIM:163950
HP:0001642	Pulmonic stenosis	23137	SMC5	OMIM:620185
HP:0001642	Pulmonic stenosis	25915	NDUFAF3	ORPHA:70474
HP:0001642	Pulmonic stenosis	4714	NDUFB8	ORPHA:70474
HP:0001642	Pulmonic stenosis	4720	NDUFS2	ORPHA:70474
HP:0001642	Pulmonic stenosis	9997	SCO2	ORPHA:70474
HP:0001642	Pulmonic stenosis	6834	SURF1	ORPHA:70474
HP:0001642	Pulmonic stenosis	2200	FBN1	OMIM:608328
HP:0001642	Pulmonic stenosis	2200	FBN1	ORPHA:3449
HP:0001642	Pulmonic stenosis	54880	BCOR	OMIM:300166
HP:0001642	Pulmonic stenosis	374879	ZNF699	OMIM:619488
HP:0001642	Pulmonic stenosis	51715	RAB23	OMIM:201000
HP:0001642	Pulmonic stenosis	90416	CCDC32	OMIM:619123
HP:0001642	Pulmonic stenosis	79633	FAT4	ORPHA:314679
HP:0001642	Pulmonic stenosis	8642	DCHS1	ORPHA:314679
HP:0001642	Pulmonic stenosis	11128	POLR3A	ORPHA:3455
HP:0001642	Pulmonic stenosis	11107	PRDM5	ORPHA:90354
HP:0001642	Pulmonic stenosis	84627	ZNF469	ORPHA:90354
HP:0001642	Pulmonic stenosis	51322	WAC	ORPHA:284169
HP:0001642	Pulmonic stenosis	84905	ZNF341	OMIM:618282
HP:0001642	Pulmonic stenosis	9897	WASHC5	OMIM:220210
HP:0001642	Pulmonic stenosis	9897	WASHC5	ORPHA:7
HP:0001642	Pulmonic stenosis	4256	MGP	OMIM:245150
HP:0001642	Pulmonic stenosis	9652	SKIC3	OMIM:222470
HP:0001642	Pulmonic stenosis	650	BMP2	OMIM:617877
HP:0001642	Pulmonic stenosis	4053	LTBP2	ORPHA:3449
HP:0001642	Pulmonic stenosis	4053	LTBP2	OMIM:614819
HP:0001642	Pulmonic stenosis	4851	NOTCH1	OMIM:616028
HP:0001642	Pulmonic stenosis	5167	ENPP1	OMIM:613312
HP:0001642	Pulmonic stenosis	5885	RAD21	OMIM:611376
HP:0001642	Pulmonic stenosis	7994	KAT6A	OMIM:616268
HP:0001642	Pulmonic stenosis	4087	SMAD2	OMIM:619657
HP:0001642	Pulmonic stenosis	1107	CHD3	OMIM:618205
HP:0001642	Pulmonic stenosis	4853	NOTCH2	OMIM:610205
HP:0001642	Pulmonic stenosis	701	BUB1B	OMIM:257300
HP:0001642	Pulmonic stenosis	3756	KCNH1	OMIM:611816
HP:0001642	Pulmonic stenosis	28952	CCDC22	ORPHA:7
HP:0001642	Pulmonic stenosis	27161	AGO2	OMIM:619149
HP:0001642	Pulmonic stenosis	54361	WNT4	ORPHA:139466
HP:0001642	Pulmonic stenosis	6155	RPL27	OMIM:617408
HP:0001642	Pulmonic stenosis	6655	SOS2	OMIM:616559
HP:0001642	Pulmonic stenosis	2719	GPC3	OMIM:312870
HP:0001642	Pulmonic stenosis	2239	GPC4	OMIM:312870
HP:0001642	Pulmonic stenosis	100128908	CIROP	OMIM:619702
HP:0001642	Pulmonic stenosis	1828	DSG1	OMIM:615508
HP:0001642	Pulmonic stenosis	161742	SPRED1	ORPHA:137605
HP:0001642	Pulmonic stenosis	6654	SOS1	OMIM:610733
HP:0001642	Pulmonic stenosis	4038	LRP4	OMIM:212780
HP:0001642	Pulmonic stenosis	27034	ACAD8	ORPHA:79159
HP:0001642	Pulmonic stenosis	84231	TRAF7	OMIM:618164
HP:0001642	Pulmonic stenosis	5337	PLD1	OMIM:212093
HP:0001642	Pulmonic stenosis	92002	CCNQ	OMIM:300707
HP:0001643	Patent ductus arteriosus	1718	DHCR24	OMIM:602398
HP:0001643	Patent ductus arteriosus	1718	DHCR24	ORPHA:35107
HP:0001643	Patent ductus arteriosus	6910	TBX5	ORPHA:392
HP:0001643	Patent ductus arteriosus	6910	TBX5	OMIM:142900
HP:0001643	Patent ductus arteriosus	8216	LZTR1	OMIM:616564
HP:0001643	Patent ductus arteriosus	8216	LZTR1	OMIM:605275
HP:0001643	Patent ductus arteriosus	2132	EXT2	OMIM:616682
HP:0001643	Patent ductus arteriosus	6016	RIT1	OMIM:615355
HP:0001643	Patent ductus arteriosus	51126	NAA20	OMIM:619717
HP:0001643	Patent ductus arteriosus	4625	MYH7	ORPHA:1880
HP:0001643	Patent ductus arteriosus	7021	TFAP2B	OMIM:169100
HP:0001643	Patent ductus arteriosus	7021	TFAP2B	ORPHA:46627
HP:0001643	Patent ductus arteriosus	7021	TFAP2B	OMIM:617035
HP:0001643	Patent ductus arteriosus	2720	GLB1	OMIM:230600
HP:0001643	Patent ductus arteriosus	1788	DNMT3A	ORPHA:404443
HP:0001643	Patent ductus arteriosus	1131	CHRM3	ORPHA:2970
HP:0001643	Patent ductus arteriosus	1131	CHRM3	OMIM:100100
HP:0001643	Patent ductus arteriosus	64220	STRA6	OMIM:601186
HP:0001643	Patent ductus arteriosus	9578	CDC42BPB	OMIM:619841
HP:0001643	Patent ductus arteriosus	8942	KYNU	OMIM:617661
HP:0001643	Patent ductus arteriosus	55790	CSGALNACT1	OMIM:618870
HP:0001643	Patent ductus arteriosus	65082	VPS33A	OMIM:617303
HP:0001643	Patent ductus arteriosus	65082	VPS33A	ORPHA:505248
HP:0001643	Patent ductus arteriosus	55690	PACS1	OMIM:615009
HP:0001643	Patent ductus arteriosus	55690	PACS1	ORPHA:329224
HP:0001643	Patent ductus arteriosus	2201	FBN2	OMIM:121050
HP:0001643	Patent ductus arteriosus	9200	HACD1	OMIM:619967
HP:0001643	Patent ductus arteriosus	23384	SPECC1L	ORPHA:1519
HP:0001643	Patent ductus arteriosus	3764	KCNJ8	ORPHA:1517
HP:0001643	Patent ductus arteriosus	10060	ABCC9	ORPHA:1517
HP:0001643	Patent ductus arteriosus	10060	ABCC9	OMIM:239850
HP:0001643	Patent ductus arteriosus	7086	TKT	ORPHA:488618
HP:0001643	Patent ductus arteriosus	7086	TKT	OMIM:617044
HP:0001643	Patent ductus arteriosus	55636	CHD7	ORPHA:138
HP:0001643	Patent ductus arteriosus	55636	CHD7	OMIM:214800
HP:0001643	Patent ductus arteriosus	9723	SEMA3E	ORPHA:138
HP:0001643	Patent ductus arteriosus	57231	SNX14	ORPHA:397709
HP:0001643	Patent ductus arteriosus	5189	PEX1	OMIM:214100
HP:0001643	Patent ductus arteriosus	2188	FANCF	OMIM:603467
HP:0001643	Patent ductus arteriosus	2188	FANCF	ORPHA:84
HP:0001643	Patent ductus arteriosus	2626	GATA4	OMIM:607941
HP:0001643	Patent ductus arteriosus	2626	GATA4	ORPHA:251071
HP:0001643	Patent ductus arteriosus	25885	POLR1A	OMIM:616462
HP:0001643	Patent ductus arteriosus	54880	BCOR	ORPHA:2712
HP:0001643	Patent ductus arteriosus	54880	BCOR	OMIM:300166
HP:0001643	Patent ductus arteriosus	4853	NOTCH2	OMIM:102500
HP:0001643	Patent ductus arteriosus	4853	NOTCH2	ORPHA:955
HP:0001643	Patent ductus arteriosus	2261	FGFR3	ORPHA:1860
HP:0001643	Patent ductus arteriosus	2261	FGFR3	ORPHA:93274
HP:0001643	Patent ductus arteriosus	2261	FGFR3	ORPHA:2363
HP:0001643	Patent ductus arteriosus	7994	KAT6A	ORPHA:457193
HP:0001643	Patent ductus arteriosus	7994	KAT6A	OMIM:616268
HP:0001643	Patent ductus arteriosus	55109	AGGF1	ORPHA:90308
HP:0001643	Patent ductus arteriosus	8726	EED	OMIM:617561
HP:0001643	Patent ductus arteriosus	203286	ANKS6	OMIM:615382
HP:0001643	Patent ductus arteriosus	22884	WDR37	OMIM:618652
HP:0001643	Patent ductus arteriosus	57178	ZMIZ1	OMIM:618659
HP:0001643	Patent ductus arteriosus	8550	MAPKAPK5	OMIM:619869
HP:0001643	Patent ductus arteriosus	5950	RBP4	OMIM:615147
HP:0001643	Patent ductus arteriosus	3782	KCNN3	OMIM:618658
HP:0001643	Patent ductus arteriosus	2296	FOXC1	OMIM:602482
HP:0001643	Patent ductus arteriosus	81794	ADAMTS10	OMIM:277600
HP:0001643	Patent ductus arteriosus	3476	IGBP1	ORPHA:52055
HP:0001643	Patent ductus arteriosus	3476	IGBP1	OMIM:300472
HP:0001643	Patent ductus arteriosus	1770	DNAH9	OMIM:618300
HP:0001643	Patent ductus arteriosus	51604	PIGT	OMIM:615398
HP:0001643	Patent ductus arteriosus	51604	PIGT	ORPHA:369837
HP:0001643	Patent ductus arteriosus	23126	POGZ	OMIM:616364
HP:0001643	Patent ductus arteriosus	54914	FOCAD	OMIM:619991
HP:0001643	Patent ductus arteriosus	213	ALB	OMIM:616000
HP:0001643	Patent ductus arteriosus	57167	SALL4	OMIM:147750
HP:0001643	Patent ductus arteriosus	3481	IGF2	OMIM:616489
HP:0001643	Patent ductus arteriosus	27125	AFF4	OMIM:616368
HP:0001643	Patent ductus arteriosus	27125	AFF4	ORPHA:444077
HP:0001643	Patent ductus arteriosus	57863	CADM3	OMIM:619519
HP:0001643	Patent ductus arteriosus	4629	MYH11	ORPHA:229
HP:0001643	Patent ductus arteriosus	4629	MYH11	OMIM:619351
HP:0001643	Patent ductus arteriosus	4629	MYH11	OMIM:132900
HP:0001643	Patent ductus arteriosus	4629	MYH11	ORPHA:91387
HP:0001643	Patent ductus arteriosus	5590	PRKCZ	ORPHA:1606
HP:0001643	Patent ductus arteriosus	2563	GABRD	ORPHA:1606
HP:0001643	Patent ductus arteriosus	23013	SPEN	ORPHA:1606
HP:0001643	Patent ductus arteriosus	8510	MMP23B	ORPHA:1606
HP:0001643	Patent ductus arteriosus	7798	LUZP1	ORPHA:1606
HP:0001643	Patent ductus arteriosus	6497	SKI	ORPHA:1606
HP:0001643	Patent ductus arteriosus	10630	PDPN	ORPHA:1606
HP:0001643	Patent ductus arteriosus	3339	HSPG2	ORPHA:1606
HP:0001643	Patent ductus arteriosus	10277	UBE4B	ORPHA:1606
HP:0001643	Patent ductus arteriosus	8514	KCNAB2	ORPHA:1606
HP:0001643	Patent ductus arteriosus	473	RERE	ORPHA:1606
HP:0001643	Patent ductus arteriosus	473	RERE	OMIM:616975
HP:0001643	Patent ductus arteriosus	63976	PRDM16	ORPHA:1606
HP:0001643	Patent ductus arteriosus	54897	CASZ1	ORPHA:1606
HP:0001643	Patent ductus arteriosus	286	ANK1	ORPHA:251066
HP:0001643	Patent ductus arteriosus	415	ARSL	ORPHA:79345
HP:0001643	Patent ductus arteriosus	1859	DYRK1A	ORPHA:464311
HP:0001643	Patent ductus arteriosus	4247	MGAT2	ORPHA:79329
HP:0001643	Patent ductus arteriosus	7750	ZMYM2	OMIM:619522
HP:0001643	Patent ductus arteriosus	9772	TMEM94	OMIM:618316
HP:0001643	Patent ductus arteriosus	79971	WLS	OMIM:619648
HP:0001643	Patent ductus arteriosus	51341	ZBTB7A	OMIM:619769
HP:0001643	Patent ductus arteriosus	9968	MED12	OMIM:301068
HP:0001643	Patent ductus arteriosus	23556	PIGN	OMIM:614080
HP:0001643	Patent ductus arteriosus	23556	PIGN	ORPHA:280633
HP:0001643	Patent ductus arteriosus	775	CACNA1C	OMIM:601005
HP:0001643	Patent ductus arteriosus	79989	IFT56	OMIM:619534
HP:0001643	Patent ductus arteriosus	285203	EOGT	OMIM:615297
HP:0001643	Patent ductus arteriosus	4087	SMAD2	OMIM:619657
HP:0001643	Patent ductus arteriosus	4087	SMAD2	ORPHA:91387
HP:0001643	Patent ductus arteriosus	2303	FOXC2	ORPHA:33001
HP:0001643	Patent ductus arteriosus	2303	FOXC2	OMIM:153400
HP:0001643	Patent ductus arteriosus	79087	ALG12	ORPHA:79324
HP:0001643	Patent ductus arteriosus	79087	ALG12	OMIM:607143
HP:0001643	Patent ductus arteriosus	3845	KRAS	OMIM:600268
HP:0001643	Patent ductus arteriosus	3845	KRAS	OMIM:609942
HP:0001643	Patent ductus arteriosus	8295	TRRAP	OMIM:618454
HP:0001643	Patent ductus arteriosus	54903	MKS1	OMIM:249000
HP:0001643	Patent ductus arteriosus	51117	COQ4	OMIM:616276
HP:0001643	Patent ductus arteriosus	1523	CUX1	OMIM:618330
HP:0001643	Patent ductus arteriosus	27429	HTRA2	OMIM:617248
HP:0001643	Patent ductus arteriosus	7516	XRCC2	OMIM:617247
HP:0001643	Patent ductus arteriosus	7516	XRCC2	ORPHA:84
HP:0001643	Patent ductus arteriosus	7046	TGFBR1	OMIM:609192
HP:0001643	Patent ductus arteriosus	7046	TGFBR1	ORPHA:60030
HP:0001643	Patent ductus arteriosus	7046	TGFBR1	ORPHA:91387
HP:0001643	Patent ductus arteriosus	5062	PAK2	OMIM:618458
HP:0001643	Patent ductus arteriosus	5062	PAK2	ORPHA:1571
HP:0001643	Patent ductus arteriosus	9949	AMMECR1	OMIM:300990
HP:0001643	Patent ductus arteriosus	9949	AMMECR1	ORPHA:86818
HP:0001643	Patent ductus arteriosus	2737	GLI3	ORPHA:672
HP:0001643	Patent ductus arteriosus	2737	GLI3	OMIM:146510
HP:0001643	Patent ductus arteriosus	4088	SMAD3	ORPHA:284984
HP:0001643	Patent ductus arteriosus	4088	SMAD3	OMIM:613795
HP:0001643	Patent ductus arteriosus	4088	SMAD3	ORPHA:91387
HP:0001643	Patent ductus arteriosus	6909	TBX2	OMIM:618223
HP:0001643	Patent ductus arteriosus	9759	HDAC4	OMIM:619797
HP:0001643	Patent ductus arteriosus	2187	FANCB	OMIM:300514
HP:0001643	Patent ductus arteriosus	2187	FANCB	ORPHA:84
HP:0001643	Patent ductus arteriosus	6885	MAP3K7	OMIM:617137
HP:0001643	Patent ductus arteriosus	10102	TSFM	OMIM:610505
HP:0001643	Patent ductus arteriosus	4838	NODAL	OMIM:270100
HP:0001643	Patent ductus arteriosus	2627	GATA6	OMIM:600001
HP:0001643	Patent ductus arteriosus	2627	GATA6	ORPHA:2255
HP:0001643	Patent ductus arteriosus	55315	SLC29A3	OMIM:602782
HP:0001643	Patent ductus arteriosus	7372	UMPS	ORPHA:30
HP:0001643	Patent ductus arteriosus	7707	ZNF148	OMIM:617260
HP:0001643	Patent ductus arteriosus	7490	WT1	ORPHA:3097
HP:0001643	Patent ductus arteriosus	7490	WT1	OMIM:608978
HP:0001643	Patent ductus arteriosus	1387	CREBBP	ORPHA:353281
HP:0001643	Patent ductus arteriosus	1387	CREBBP	OMIM:180849
HP:0001643	Patent ductus arteriosus	1387	CREBBP	ORPHA:353277
HP:0001643	Patent ductus arteriosus	23395	LARS2	OMIM:617021
HP:0001643	Patent ductus arteriosus	2623	GATA1	OMIM:190685
HP:0001643	Patent ductus arteriosus	6651	SON	OMIM:617140
HP:0001643	Patent ductus arteriosus	2033	EP300	ORPHA:353284
HP:0001643	Patent ductus arteriosus	2033	EP300	OMIM:180849
HP:0001643	Patent ductus arteriosus	9126	SMC3	OMIM:610759
HP:0001643	Patent ductus arteriosus	79068	FTO	OMIM:612938
HP:0001643	Patent ductus arteriosus	8626	TP63	OMIM:106260
HP:0001643	Patent ductus arteriosus	170302	ARX	ORPHA:452
HP:0001643	Patent ductus arteriosus	4784	NFIX	OMIM:602535
HP:0001643	Patent ductus arteriosus	2530	FUT8	OMIM:618005
HP:0001643	Patent ductus arteriosus	3756	KCNH1	OMIM:135500
HP:0001643	Patent ductus arteriosus	8260	NAA10	OMIM:300855
HP:0001643	Patent ductus arteriosus	11274	USP18	OMIM:617397
HP:0001643	Patent ductus arteriosus	93166	PRDM6	OMIM:617039
HP:0001643	Patent ductus arteriosus	1108	CHD4	OMIM:617159
HP:0001643	Patent ductus arteriosus	1312	COMT	ORPHA:567
HP:0001643	Patent ductus arteriosus	221037	JMJD1C	ORPHA:567
HP:0001643	Patent ductus arteriosus	2812	GP1BB	ORPHA:567
HP:0001643	Patent ductus arteriosus	6239	RREB1	ORPHA:567
HP:0001643	Patent ductus arteriosus	6899	TBX1	ORPHA:567
HP:0001643	Patent ductus arteriosus	6899	TBX1	OMIM:188400
HP:0001643	Patent ductus arteriosus	7290	HIRA	ORPHA:567
HP:0001643	Patent ductus arteriosus	9632	SEC24C	ORPHA:567
HP:0001643	Patent ductus arteriosus	7353	UFD1	ORPHA:567
HP:0001643	Patent ductus arteriosus	421	ARVCF	ORPHA:567
HP:0001643	Patent ductus arteriosus	22827	PUF60	ORPHA:508488
HP:0001643	Patent ductus arteriosus	7703	PCGF2	OMIM:618371
HP:0001643	Patent ductus arteriosus	27031	NPHP3	OMIM:267010
HP:0001643	Patent ductus arteriosus	27031	NPHP3	OMIM:208540
HP:0001643	Patent ductus arteriosus	9496	TBX4	ORPHA:261279
HP:0001643	Patent ductus arteriosus	1760	DMPK	ORPHA:589821
HP:0001643	Patent ductus arteriosus	8802	SUCLG1	ORPHA:17
HP:0001643	Patent ductus arteriosus	5277	PIGA	OMIM:300868
HP:0001643	Patent ductus arteriosus	4613	MYCN	OMIM:164280
HP:0001643	Patent ductus arteriosus	4613	MYCN	ORPHA:391641
HP:0001643	Patent ductus arteriosus	51715	RAB23	ORPHA:65759
HP:0001643	Patent ductus arteriosus	51715	RAB23	OMIM:201000
HP:0001643	Patent ductus arteriosus	1954	MEGF8	ORPHA:65759
HP:0001643	Patent ductus arteriosus	1954	MEGF8	OMIM:614976
HP:0001643	Patent ductus arteriosus	4990	SIX6	OMIM:206900
HP:0001643	Patent ductus arteriosus	6657	SOX2	OMIM:206900
HP:0001643	Patent ductus arteriosus	6657	SOX2	ORPHA:77298
HP:0001643	Patent ductus arteriosus	9321	TRIP11	ORPHA:166272
HP:0001643	Patent ductus arteriosus	29957	SLC25A24	ORPHA:2095
HP:0001643	Patent ductus arteriosus	29957	SLC25A24	OMIM:612289
HP:0001643	Patent ductus arteriosus	54809	SAMD9	OMIM:617053
HP:0001643	Patent ductus arteriosus	57003	CCDC47	OMIM:618268
HP:0001643	Patent ductus arteriosus	57061	HYMAI	ORPHA:96191
HP:0001643	Patent ductus arteriosus	5325	PLAGL1	ORPHA:96191
HP:0001643	Patent ductus arteriosus	10526	IPO8	OMIM:619472
HP:0001643	Patent ductus arteriosus	10526	IPO8	ORPHA:60030
HP:0001643	Patent ductus arteriosus	64840	PORCN	ORPHA:2092
HP:0001643	Patent ductus arteriosus	348180	CTU2	OMIM:618142
HP:0001643	Patent ductus arteriosus	145173	B3GLCT	OMIM:261540
HP:0001643	Patent ductus arteriosus	145173	B3GLCT	ORPHA:709
HP:0001643	Patent ductus arteriosus	26005	C2CD3	ORPHA:434179
HP:0001643	Patent ductus arteriosus	26005	C2CD3	OMIM:615948
HP:0001643	Patent ductus arteriosus	3248	HPGD	OMIM:259100
HP:0001643	Patent ductus arteriosus	11198	SUPT16H	OMIM:619480
HP:0001643	Patent ductus arteriosus	84172	POLR1B	ORPHA:861
HP:0001643	Patent ductus arteriosus	9533	POLR1C	ORPHA:861
HP:0001643	Patent ductus arteriosus	51082	POLR1D	ORPHA:861
HP:0001643	Patent ductus arteriosus	6949	TCOF1	ORPHA:861
HP:0001643	Patent ductus arteriosus	7204	TRIO	OMIM:617061
HP:0001643	Patent ductus arteriosus	374879	ZNF699	OMIM:619488
HP:0001643	Patent ductus arteriosus	4841	NONO	OMIM:300967
HP:0001643	Patent ductus arteriosus	4841	NONO	ORPHA:466791
HP:0001643	Patent ductus arteriosus	8239	USP9X	OMIM:300968
HP:0001643	Patent ductus arteriosus	8239	USP9X	ORPHA:480880
HP:0001643	Patent ductus arteriosus	28952	CCDC22	OMIM:300963
HP:0001643	Patent ductus arteriosus	6299	SALL1	ORPHA:857
HP:0001643	Patent ductus arteriosus	51339	DACT1	ORPHA:857
HP:0001643	Patent ductus arteriosus	118924	FRA10AC1	OMIM:620113
HP:0001643	Patent ductus arteriosus	745	MYRF	OMIM:618280
HP:0001643	Patent ductus arteriosus	55252	ASXL2	OMIM:617190
HP:0001643	Patent ductus arteriosus	23387	SIK3	OMIM:618162
HP:0001643	Patent ductus arteriosus	6748	SSR4	ORPHA:370927
HP:0001643	Patent ductus arteriosus	2177	FANCD2	OMIM:227646
HP:0001643	Patent ductus arteriosus	2177	FANCD2	ORPHA:84
HP:0001643	Patent ductus arteriosus	84231	TRAF7	OMIM:618164
HP:0001643	Patent ductus arteriosus	89970	RSPRY1	ORPHA:457395
HP:0001643	Patent ductus arteriosus	284058	KANSL1	OMIM:610443
HP:0001643	Patent ductus arteriosus	5557	PRIM1	OMIM:620005
HP:0001643	Patent ductus arteriosus	59	ACTA2	OMIM:613834
HP:0001643	Patent ductus arteriosus	59	ACTA2	ORPHA:91387
HP:0001643	Patent ductus arteriosus	23522	KAT6B	ORPHA:3047
HP:0001643	Patent ductus arteriosus	55901	THSD1	OMIM:620244
HP:0001643	Patent ductus arteriosus	2316	FLNA	ORPHA:555877
HP:0001643	Patent ductus arteriosus	2316	FLNA	ORPHA:99811
HP:0001643	Patent ductus arteriosus	2316	FLNA	ORPHA:98892
HP:0001643	Patent ductus arteriosus	2316	FLNA	OMIM:300049
HP:0001643	Patent ductus arteriosus	2316	FLNA	OMIM:300048
HP:0001643	Patent ductus arteriosus	51626	DYNC2LI1	OMIM:617088
HP:0001643	Patent ductus arteriosus	27161	AGO2	OMIM:619149
HP:0001643	Patent ductus arteriosus	9652	SKIC3	ORPHA:84064
HP:0001643	Patent ductus arteriosus	6499	SKIC2	ORPHA:84064
HP:0001643	Patent ductus arteriosus	2294	FOXF1	OMIM:265380
HP:0001643	Patent ductus arteriosus	2294	FOXF1	ORPHA:210122
HP:0001643	Patent ductus arteriosus	137814	NKX2-6	ORPHA:3384
HP:0001643	Patent ductus arteriosus	23129	PLXND1	ORPHA:3384
HP:0001643	Patent ductus arteriosus	10262	SF3B4	OMIM:154400
HP:0001643	Patent ductus arteriosus	55503	TRPV6	OMIM:618188
HP:0001643	Patent ductus arteriosus	57539	WDR35	OMIM:613610
HP:0001643	Patent ductus arteriosus	10992	SF3B2	OMIM:164210
HP:0001643	Patent ductus arteriosus	8496	PPFIBP1	OMIM:620024
HP:0001643	Patent ductus arteriosus	9839	ZEB2	OMIM:235730
HP:0001643	Patent ductus arteriosus	9839	ZEB2	ORPHA:261552
HP:0001643	Patent ductus arteriosus	64324	NSD1	ORPHA:821
HP:0001643	Patent ductus arteriosus	64324	NSD1	OMIM:117550
HP:0001643	Patent ductus arteriosus	29072	SETD2	ORPHA:821
HP:0001643	Patent ductus arteriosus	10297	APC2	ORPHA:821
HP:0001643	Patent ductus arteriosus	51506	UFC1	OMIM:618076
HP:0001643	Patent ductus arteriosus	4010	LMX1B	ORPHA:495818
HP:0001643	Patent ductus arteriosus	6812	STXBP1	ORPHA:495818
HP:0001643	Patent ductus arteriosus	55249	YY1AP1	ORPHA:79094
HP:0001643	Patent ductus arteriosus	55788	LMBRD1	OMIM:277380
HP:0001643	Patent ductus arteriosus	1717	DHCR7	ORPHA:818
HP:0001643	Patent ductus arteriosus	1717	DHCR7	OMIM:270400
HP:0001643	Patent ductus arteriosus	10225	CD96	OMIM:211750
HP:0001643	Patent ductus arteriosus	6595	SMARCA2	OMIM:619293
HP:0001643	Patent ductus arteriosus	57492	ARID1B	OMIM:135900
HP:0001643	Patent ductus arteriosus	57492	ARID1B	ORPHA:1465
HP:0001643	Patent ductus arteriosus	1889	ECE1	OMIM:613870
HP:0001643	Patent ductus arteriosus	92579	G6PC3	OMIM:612541
HP:0001643	Patent ductus arteriosus	672	BRCA1	ORPHA:84
HP:0001643	Patent ductus arteriosus	10459	MAD2L2	ORPHA:84
HP:0001643	Patent ductus arteriosus	29089	UBE2T	ORPHA:84
HP:0001643	Patent ductus arteriosus	675	BRCA2	ORPHA:84
HP:0001643	Patent ductus arteriosus	55120	FANCL	ORPHA:84
HP:0001643	Patent ductus arteriosus	2175	FANCA	ORPHA:84
HP:0001643	Patent ductus arteriosus	2176	FANCC	ORPHA:84
HP:0001643	Patent ductus arteriosus	2178	FANCE	ORPHA:84
HP:0001643	Patent ductus arteriosus	2189	FANCG	ORPHA:84
HP:0001643	Patent ductus arteriosus	5888	RAD51	ORPHA:84
HP:0001643	Patent ductus arteriosus	5889	RAD51C	ORPHA:84
HP:0001643	Patent ductus arteriosus	55159	RFWD3	ORPHA:84
HP:0001643	Patent ductus arteriosus	83990	BRIP1	ORPHA:84
HP:0001643	Patent ductus arteriosus	57697	FANCM	ORPHA:84
HP:0001643	Patent ductus arteriosus	79728	PALB2	ORPHA:84
HP:0001643	Patent ductus arteriosus	84464	SLX4	ORPHA:84
HP:0001643	Patent ductus arteriosus	2072	ERCC4	ORPHA:84
HP:0001643	Patent ductus arteriosus	55215	FANCI	ORPHA:84
HP:0001643	Patent ductus arteriosus	6597	SMARCA4	OMIM:614609
HP:0001643	Patent ductus arteriosus	6597	SMARCA4	ORPHA:1465
HP:0001643	Patent ductus arteriosus	132158	GLYCTK	OMIM:220120
HP:0001643	Patent ductus arteriosus	55148	UBR7	OMIM:619189
HP:0001643	Patent ductus arteriosus	51021	MRPS16	OMIM:610498
HP:0001643	Patent ductus arteriosus	5728	PTEN	ORPHA:79076
HP:0001643	Patent ductus arteriosus	657	BMPR1A	ORPHA:79076
HP:0001643	Patent ductus arteriosus	79053	ALG8	OMIM:608104
HP:0001643	Patent ductus arteriosus	5826	ABCD4	OMIM:614857
HP:0001643	Patent ductus arteriosus	26227	PHGDH	OMIM:256520
HP:0001643	Patent ductus arteriosus	375	ARF1	ORPHA:98892
HP:0001643	Patent ductus arteriosus	4131	MAP1B	ORPHA:98892
HP:0001643	Patent ductus arteriosus	23327	NEDD4L	ORPHA:98892
HP:0001643	Patent ductus arteriosus	160418	TMTC3	ORPHA:98892
HP:0001643	Patent ductus arteriosus	10564	ARFGEF2	ORPHA:98892
HP:0001643	Patent ductus arteriosus	55780	ERMARD	ORPHA:98892
HP:0001643	Patent ductus arteriosus	6135	RPL11	OMIM:612562
HP:0001643	Patent ductus arteriosus	6125	RPL5	OMIM:612561
HP:0001643	Patent ductus arteriosus	6804	STX1A	ORPHA:904
HP:0001643	Patent ductus arteriosus	7461	CLIP2	ORPHA:904
HP:0001643	Patent ductus arteriosus	84277	DNAJC30	ORPHA:904
HP:0001643	Patent ductus arteriosus	8468	FKBP6	ORPHA:904
HP:0001643	Patent ductus arteriosus	5982	RFC2	ORPHA:904
HP:0001643	Patent ductus arteriosus	2969	GTF2I	ORPHA:904
HP:0001643	Patent ductus arteriosus	3984	LIMK1	ORPHA:904
HP:0001643	Patent ductus arteriosus	9569	GTF2IRD1	ORPHA:904
HP:0001643	Patent ductus arteriosus	155382	VPS37D	ORPHA:904
HP:0001643	Patent ductus arteriosus	155368	METTL27	ORPHA:904
HP:0001643	Patent ductus arteriosus	114049	BUD23	ORPHA:904
HP:0001643	Patent ductus arteriosus	7458	EIF4H	ORPHA:904
HP:0001643	Patent ductus arteriosus	84163	GTF2IRD2	ORPHA:904
HP:0001643	Patent ductus arteriosus	9275	BCL7B	ORPHA:904
HP:0001643	Patent ductus arteriosus	26608	TBL2	ORPHA:904
HP:0001643	Patent ductus arteriosus	653361	NCF1	ORPHA:904
HP:0001643	Patent ductus arteriosus	135886	TMEM270	ORPHA:904
HP:0001643	Patent ductus arteriosus	51085	MLXIPL	ORPHA:904
HP:0001643	Patent ductus arteriosus	9031	BAZ1B	ORPHA:904
HP:0001643	Patent ductus arteriosus	2006	ELN	ORPHA:904
HP:0001643	Patent ductus arteriosus	2006	ELN	ORPHA:91387
HP:0001643	Patent ductus arteriosus	54499	TMCO1	OMIM:213980
HP:0001643	Patent ductus arteriosus	23137	SMC5	OMIM:620185
HP:0001643	Patent ductus arteriosus	79228	THOC6	ORPHA:363444
HP:0001643	Patent ductus arteriosus	79228	THOC6	OMIM:613680
HP:0001643	Patent ductus arteriosus	2200	FBN1	OMIM:608328
HP:0001643	Patent ductus arteriosus	2200	FBN1	ORPHA:91387
HP:0001643	Patent ductus arteriosus	4094	MAF	ORPHA:1272
HP:0001643	Patent ductus arteriosus	4089	SMAD4	OMIM:139210
HP:0001643	Patent ductus arteriosus	4089	SMAD4	ORPHA:91387
HP:0001643	Patent ductus arteriosus	2697	GJA1	ORPHA:2248
HP:0001643	Patent ductus arteriosus	1482	NKX2-5	ORPHA:2248
HP:0001643	Patent ductus arteriosus	1482	NKX2-5	OMIM:614432
HP:0001643	Patent ductus arteriosus	2263	FGFR2	ORPHA:2363
HP:0001643	Patent ductus arteriosus	2255	FGF10	ORPHA:2363
HP:0001643	Patent ductus arteriosus	6231	RPS26	OMIM:613309
HP:0001643	Patent ductus arteriosus	51322	WAC	ORPHA:284169
HP:0001643	Patent ductus arteriosus	8813	DPM1	OMIM:608799
HP:0001643	Patent ductus arteriosus	2146	EZH2	OMIM:277590
HP:0001643	Patent ductus arteriosus	7048	TGFBR2	OMIM:610168
HP:0001643	Patent ductus arteriosus	7048	TGFBR2	ORPHA:60030
HP:0001643	Patent ductus arteriosus	7048	TGFBR2	ORPHA:91387
HP:0001643	Patent ductus arteriosus	5824	PEX19	OMIM:614886
HP:0001643	Patent ductus arteriosus	8195	MKKS	ORPHA:2473
HP:0001643	Patent ductus arteriosus	157570	ESCO2	OMIM:268300
HP:0001643	Patent ductus arteriosus	2702	GJA5	OMIM:612474
HP:0001643	Patent ductus arteriosus	2703	GJA8	OMIM:612474
HP:0001643	Patent ductus arteriosus	7319	UBE2A	ORPHA:163956
HP:0001643	Patent ductus arteriosus	10664	CTCF	OMIM:615502
HP:0001643	Patent ductus arteriosus	10664	CTCF	ORPHA:363611
HP:0001643	Patent ductus arteriosus	2719	GPC3	OMIM:312870
HP:0001643	Patent ductus arteriosus	2239	GPC4	OMIM:312870
HP:0001643	Patent ductus arteriosus	6888	TALDO1	OMIM:606003
HP:0001643	Patent ductus arteriosus	10735	STAG2	OMIM:301043
HP:0001643	Patent ductus arteriosus	11020	IFT27	OMIM:615996
HP:0001643	Patent ductus arteriosus	5648	MASP1	OMIM:257920
HP:0001643	Patent ductus arteriosus	85358	SHANK3	OMIM:606232
HP:0001643	Patent ductus arteriosus	1837	DTNA	OMIM:604169
HP:0001643	Patent ductus arteriosus	57465	TBC1D24	OMIM:220500
HP:0001643	Patent ductus arteriosus	4854	NOTCH3	OMIM:130720
HP:0001643	Patent ductus arteriosus	113179	ADAT3	ORPHA:363528
HP:0001643	Patent ductus arteriosus	55784	MCTP2	ORPHA:1596
HP:0001643	Patent ductus arteriosus	998	CDC42	OMIM:616737
HP:0001643	Patent ductus arteriosus	998	CDC42	ORPHA:487796
HP:0001643	Patent ductus arteriosus	55033	FKBP14	OMIM:614557
HP:0001643	Patent ductus arteriosus	4297	KMT2A	OMIM:605130
HP:0001643	Patent ductus arteriosus	7547	ZIC3	OMIM:306955
HP:0001643	Patent ductus arteriosus	388753	COA6	OMIM:616501
HP:0001643	Patent ductus arteriosus	6598	SMARCB1	ORPHA:1465
HP:0001643	Patent ductus arteriosus	6659	SOX4	ORPHA:1465
HP:0001643	Patent ductus arteriosus	8289	ARID1A	ORPHA:1465
HP:0001643	Patent ductus arteriosus	5977	DPF2	ORPHA:1465
HP:0001643	Patent ductus arteriosus	6601	SMARCC2	ORPHA:1465
HP:0001643	Patent ductus arteriosus	6602	SMARCD1	ORPHA:1465
HP:0001643	Patent ductus arteriosus	196528	ARID2	ORPHA:1465
HP:0001643	Patent ductus arteriosus	6605	SMARCE1	ORPHA:1465
HP:0001643	Patent ductus arteriosus	6664	SOX11	ORPHA:1465
HP:0001643	Patent ductus arteriosus	51008	ASCC1	OMIM:616867
HP:0001643	Patent ductus arteriosus	9325	TRIP4	OMIM:616866
HP:0001643	Patent ductus arteriosus	57511	COG6	OMIM:614576
HP:0001643	Patent ductus arteriosus	80781	COL18A1	ORPHA:1571
HP:0001643	Patent ductus arteriosus	80781	COL18A1	OMIM:267750
HP:0001643	Patent ductus arteriosus	6638	SNRPN	ORPHA:177907
HP:0001643	Patent ductus arteriosus	51057	WDPCP	ORPHA:1338
HP:0001643	Patent ductus arteriosus	59336	PRDM13	OMIM:619909
HP:0001643	Patent ductus arteriosus	60	ACTB	OMIM:243310
HP:0001643	Patent ductus arteriosus	6628	SNRPB	OMIM:117650
HP:0001643	Patent ductus arteriosus	23630	KCNE5	ORPHA:86818
HP:0001643	Patent ductus arteriosus	2182	ACSL4	ORPHA:86818
HP:0001643	Patent ductus arteriosus	1857	DVL3	OMIM:616894
HP:0001643	Patent ductus arteriosus	5500	PPP1CB	OMIM:617506
HP:0001643	Patent ductus arteriosus	7291	TWIST1	OMIM:617746
HP:0001643	Patent ductus arteriosus	100506658	OCLN	OMIM:251290
HP:0001643	Patent ductus arteriosus	93649	MYOCD	OMIM:618719
HP:0001643	Patent ductus arteriosus	2767	GNA11	ORPHA:1556
HP:0001643	Patent ductus arteriosus	151188	ARL6IP6	ORPHA:1556
HP:0001643	Patent ductus arteriosus	139285	AMER1	OMIM:300373
HP:0001643	Patent ductus arteriosus	5331	PLCB3	OMIM:618961
HP:0001643	Patent ductus arteriosus	153241	CEP120	OMIM:616300
HP:0001643	Patent ductus arteriosus	5879	RAC1	OMIM:617751
HP:0001643	Patent ductus arteriosus	5879	RAC1	ORPHA:500159
HP:0001643	Patent ductus arteriosus	5116	PCNT	ORPHA:2637
HP:0001643	Patent ductus arteriosus	4000	LMNA	ORPHA:1662
HP:0001643	Patent ductus arteriosus	10269	ZMPSTE24	ORPHA:1662
HP:0001643	Patent ductus arteriosus	10269	ZMPSTE24	OMIM:275210
HP:0001643	Patent ductus arteriosus	5718	PSMD12	OMIM:617516
HP:0001643	Patent ductus arteriosus	55191	NADSYN1	OMIM:618845
HP:0001643	Patent ductus arteriosus	9757	KMT2B	OMIM:619934
HP:0001643	Patent ductus arteriosus	9939	RBM8A	OMIM:274000
HP:0001643	Patent ductus arteriosus	4281	MID1	ORPHA:2745
HP:0001643	Patent ductus arteriosus	84148	KAT8	OMIM:618974
HP:0001643	Patent ductus arteriosus	100128908	CIROP	OMIM:619702
HP:0001643	Patent ductus arteriosus	4015	LOX	ORPHA:91387
HP:0001643	Patent ductus arteriosus	7043	TGFB3	ORPHA:91387
HP:0001643	Patent ductus arteriosus	7042	TGFB2	ORPHA:91387
HP:0001643	Patent ductus arteriosus	5592	PRKG1	ORPHA:91387
HP:0001643	Patent ductus arteriosus	2301	FOXE3	ORPHA:91387
HP:0001643	Patent ductus arteriosus	4144	MAT2A	ORPHA:91387
HP:0001643	Patent ductus arteriosus	23493	HEY2	ORPHA:91387
HP:0001643	Patent ductus arteriosus	8076	MFAP5	ORPHA:91387
HP:0001643	Patent ductus arteriosus	4638	MYLK	ORPHA:91387
HP:0001643	Patent ductus arteriosus	5604	MAP2K1	OMIM:163950
HP:0001643	Patent ductus arteriosus	5781	PTPN11	OMIM:163950
HP:0001643	Patent ductus arteriosus	673	BRAF	OMIM:163950
HP:0001643	Patent ductus arteriosus	2186	BPTF	ORPHA:529962
HP:0001643	Patent ductus arteriosus	808	CALM3	OMIM:618782
HP:0001643	Patent ductus arteriosus	54892	NCAPG2	OMIM:618460
HP:0001646	Abnormal aortic valve morphology	23630	KCNE5	ORPHA:86818
HP:0001646	Abnormal aortic valve morphology	2182	ACSL4	ORPHA:86818
HP:0001646	Abnormal aortic valve morphology	9949	AMMECR1	ORPHA:86818
HP:0001646	Abnormal aortic valve morphology	79158	GNPTAB	ORPHA:576
HP:0001646	Abnormal aortic valve morphology	5605	MAP2K2	OMIM:615280
HP:0001646	Abnormal aortic valve morphology	6197	RPS6KA3	ORPHA:192
HP:0001646	Abnormal aortic valve morphology	25970	SH2B1	ORPHA:261197
HP:0001646	Abnormal aortic valve morphology	54968	TMEM70	ORPHA:1194
HP:0001646	Abnormal aortic valve morphology	6497	SKI	ORPHA:2462
HP:0001646	Abnormal aortic valve morphology	4621	MYH3	ORPHA:2990
HP:0001646	Abnormal aortic valve morphology	1146	CHRNG	ORPHA:2990
HP:0001646	Abnormal aortic valve morphology	3593	IL12B	ORPHA:3287
HP:0001646	Abnormal aortic valve morphology	3106	HLA-B	ORPHA:3287
HP:0001646	Abnormal aortic valve morphology	6945	MLX	ORPHA:3287
HP:0001646	Abnormal aortic valve morphology	672	BRCA1	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	10459	MAD2L2	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	7516	XRCC2	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	29089	UBE2T	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	675	BRCA2	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	55120	FANCL	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2177	FANCD2	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2175	FANCA	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2187	FANCB	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2176	FANCC	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2178	FANCE	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2188	FANCF	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2189	FANCG	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	5888	RAD51	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	5889	RAD51C	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	55159	RFWD3	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	83990	BRIP1	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	57697	FANCM	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	79728	PALB2	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	84464	SLX4	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	2072	ERCC4	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	55215	FANCI	ORPHA:84
HP:0001646	Abnormal aortic valve morphology	118856	MMP21	OMIM:616749
HP:0001646	Abnormal aortic valve morphology	55636	CHD7	ORPHA:138
HP:0001646	Abnormal aortic valve morphology	9723	SEMA3E	ORPHA:138
HP:0001646	Abnormal aortic valve morphology	1312	COMT	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	221037	JMJD1C	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	2812	GP1BB	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	6239	RREB1	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	6899	TBX1	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	7290	HIRA	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	9632	SEC24C	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	7353	UFD1	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	421	ARVCF	ORPHA:567
HP:0001646	Abnormal aortic valve morphology	673	BRAF	OMIM:613707
HP:0001646	Abnormal aortic valve morphology	2717	GLA	ORPHA:324
HP:0001646	Abnormal aortic valve morphology	2294	FOXF1	OMIM:265380
HP:0001646	Abnormal aortic valve morphology	2294	FOXF1	ORPHA:210122
HP:0001646	Abnormal aortic valve morphology	151648	SGO1	OMIM:616201
HP:0001646	Abnormal aortic valve morphology	8473	OGT	OMIM:300997
HP:0001646	Abnormal aortic valve morphology	6873	TAF2	OMIM:615599
HP:0001646	Abnormal aortic valve morphology	6873	TAF2	ORPHA:397951
HP:0001646	Abnormal aortic valve morphology	6885	MAP3K7	OMIM:617137
HP:0001646	Abnormal aortic valve morphology	2316	FLNA	OMIM:314400
HP:0001646	Abnormal aortic valve morphology	2316	FLNA	OMIM:300049
HP:0001646	Abnormal aortic valve morphology	2316	FLNA	ORPHA:555877
HP:0001646	Abnormal aortic valve morphology	6650	CAPN15	OMIM:619318
HP:0001646	Abnormal aortic valve morphology	3190	HNRNPK	ORPHA:453504
HP:0001646	Abnormal aortic valve morphology	3190	HNRNPK	ORPHA:352665
HP:0001646	Abnormal aortic valve morphology	10743	RAI1	ORPHA:477817
HP:0001646	Abnormal aortic valve morphology	1387	CREBBP	ORPHA:353281
HP:0001646	Abnormal aortic valve morphology	1387	CREBBP	ORPHA:353277
HP:0001646	Abnormal aortic valve morphology	4854	NOTCH3	OMIM:130720
HP:0001646	Abnormal aortic valve morphology	3020	H3-3A	OMIM:619720
HP:0001646	Abnormal aortic valve morphology	3021	H3-3B	OMIM:619721
HP:0001646	Abnormal aortic valve morphology	55784	MCTP2	ORPHA:1596
HP:0001646	Abnormal aortic valve morphology	55690	PACS1	OMIM:615009
HP:0001646	Abnormal aortic valve morphology	55690	PACS1	ORPHA:329224
HP:0001646	Abnormal aortic valve morphology	2201	FBN2	OMIM:121050
HP:0001646	Abnormal aortic valve morphology	2033	EP300	ORPHA:353284
HP:0001646	Abnormal aortic valve morphology	9126	SMC3	OMIM:610759
HP:0001646	Abnormal aortic valve morphology	55249	YY1AP1	OMIM:602531
HP:0001646	Abnormal aortic valve morphology	51816	ADA2	OMIM:182410
HP:0001646	Abnormal aortic valve morphology	284058	KANSL1	ORPHA:363958
HP:0001646	Abnormal aortic valve morphology	284058	KANSL1	ORPHA:363965
HP:0001646	Abnormal aortic valve morphology	284058	KANSL1	OMIM:610443
HP:0001646	Abnormal aortic valve morphology	2200	FBN1	OMIM:154700
HP:0001646	Abnormal aortic valve morphology	2200	FBN1	OMIM:184900
HP:0001646	Abnormal aortic valve morphology	2200	FBN1	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	8260	NAA10	OMIM:300855
HP:0001646	Abnormal aortic valve morphology	8260	NAA10	OMIM:309800
HP:0001646	Abnormal aortic valve morphology	64359	NXN	OMIM:618529
HP:0001646	Abnormal aortic valve morphology	4629	MYH11	OMIM:132900
HP:0001646	Abnormal aortic valve morphology	4629	MYH11	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	55764	IFT122	OMIM:218330
HP:0001646	Abnormal aortic valve morphology	4313	MMP2	ORPHA:371428
HP:0001646	Abnormal aortic valve morphology	4323	MMP14	ORPHA:371428
HP:0001646	Abnormal aortic valve morphology	9839	ZEB2	ORPHA:261552
HP:0001646	Abnormal aortic valve morphology	9839	ZEB2	ORPHA:261537
HP:0001646	Abnormal aortic valve morphology	4015	LOX	OMIM:617168
HP:0001646	Abnormal aortic valve morphology	4015	LOX	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	54538	ROBO4	OMIM:618496
HP:0001646	Abnormal aortic valve morphology	60	ACTB	OMIM:243310
HP:0001646	Abnormal aortic valve morphology	7490	WT1	OMIM:608978
HP:0001646	Abnormal aortic valve morphology	8493	PPM1D	OMIM:617450
HP:0001646	Abnormal aortic valve morphology	54880	BCOR	OMIM:309800
HP:0001646	Abnormal aortic valve morphology	5977	DPF2	OMIM:618027
HP:0001646	Abnormal aortic valve morphology	23118	TAB2	OMIM:614980
HP:0001646	Abnormal aortic valve morphology	6711	SPTBN1	OMIM:619475
HP:0001646	Abnormal aortic valve morphology	92002	CCNQ	OMIM:300707
HP:0001646	Abnormal aortic valve morphology	29957	SLC25A24	OMIM:612289
HP:0001646	Abnormal aortic valve morphology	1909	EDNRA	OMIM:616367
HP:0001646	Abnormal aortic valve morphology	57514	ARHGAP31	OMIM:100300
HP:0001646	Abnormal aortic valve morphology	6154	RPL26	OMIM:614900
HP:0001646	Abnormal aortic valve morphology	6804	STX1A	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	7461	CLIP2	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	84277	DNAJC30	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	8468	FKBP6	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	5982	RFC2	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	2969	GTF2I	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	3984	LIMK1	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	9569	GTF2IRD1	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	155382	VPS37D	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	155368	METTL27	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	114049	BUD23	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	7458	EIF4H	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	84163	GTF2IRD2	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	9275	BCL7B	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	26608	TBL2	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	653361	NCF1	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	135886	TMEM270	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	51085	MLXIPL	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	51085	MLXIPL	OMIM:194050
HP:0001646	Abnormal aortic valve morphology	9031	BAZ1B	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	2006	ELN	ORPHA:904
HP:0001646	Abnormal aortic valve morphology	2006	ELN	OMIM:194050
HP:0001646	Abnormal aortic valve morphology	2006	ELN	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	79753	SNIP1	OMIM:614501
HP:0001646	Abnormal aortic valve morphology	83475	DOHH	OMIM:620066
HP:0001646	Abnormal aortic valve morphology	10060	ABCC9	OMIM:239850
HP:0001646	Abnormal aortic valve morphology	54828	BCAS3	OMIM:619641
HP:0001646	Abnormal aortic valve morphology	2222	FDFT1	OMIM:618156
HP:0001646	Abnormal aortic valve morphology	4780	NFE2L2	OMIM:617744
HP:0001646	Abnormal aortic valve morphology	2627	GATA6	OMIM:614475
HP:0001646	Abnormal aortic valve morphology	4625	MYH7	OMIM:613426
HP:0001646	Abnormal aortic valve morphology	9371	KIF3B	OMIM:618955
HP:0001646	Abnormal aortic valve morphology	93649	MYOCD	OMIM:618719
HP:0001646	Abnormal aortic valve morphology	126792	B3GALT6	OMIM:271640
HP:0001646	Abnormal aortic valve morphology	51322	WAC	ORPHA:284169
HP:0001646	Abnormal aortic valve morphology	5879	RAC1	OMIM:617751
HP:0001646	Abnormal aortic valve morphology	5879	RAC1	ORPHA:500159
HP:0001646	Abnormal aortic valve morphology	5528	PPP2R5D	ORPHA:457279
HP:0001646	Abnormal aortic valve morphology	4088	SMAD3	OMIM:613795
HP:0001646	Abnormal aortic valve morphology	4088	SMAD3	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	7048	TGFBR2	OMIM:610168
HP:0001646	Abnormal aortic valve morphology	7048	TGFBR2	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	55191	NADSYN1	OMIM:618845
HP:0001646	Abnormal aortic valve morphology	9469	CHST3	OMIM:245600
HP:0001646	Abnormal aortic valve morphology	26229	B3GAT3	OMIM:245600
HP:0001646	Abnormal aortic valve morphology	27161	AGO2	OMIM:619149
HP:0001646	Abnormal aortic valve morphology	583	BBS2	OMIM:615981
HP:0001646	Abnormal aortic valve morphology	2702	GJA5	OMIM:612474
HP:0001646	Abnormal aortic valve morphology	2703	GJA8	OMIM:612474
HP:0001646	Abnormal aortic valve morphology	867	CBL	OMIM:613563
HP:0001646	Abnormal aortic valve morphology	79875	THSD4	OMIM:619825
HP:0001646	Abnormal aortic valve morphology	9652	SKIC3	ORPHA:84064
HP:0001646	Abnormal aortic valve morphology	6499	SKIC2	ORPHA:84064
HP:0001646	Abnormal aortic valve morphology	6736	SRY	ORPHA:1772
HP:0001646	Abnormal aortic valve morphology	7046	TGFBR1	OMIM:609192
HP:0001646	Abnormal aortic valve morphology	7046	TGFBR1	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	7042	TGFB2	OMIM:614816
HP:0001646	Abnormal aortic valve morphology	7042	TGFB2	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	4087	SMAD2	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	7043	TGFB3	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	4089	SMAD4	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	59	ACTA2	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	5592	PRKG1	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	2301	FOXE3	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	4144	MAT2A	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	23493	HEY2	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	8076	MFAP5	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	4638	MYLK	ORPHA:91387
HP:0001646	Abnormal aortic valve morphology	58499	ZNF462	OMIM:618619
HP:0001646	Abnormal aortic valve morphology	3081	HGD	ORPHA:56
HP:0001646	Abnormal aortic valve morphology	3081	HGD	OMIM:203500
HP:0001646	Abnormal aortic valve morphology	64135	IFIH1	OMIM:182250
HP:0001646	Abnormal aortic valve morphology	4000	LMNA	ORPHA:740
HP:0001646	Abnormal aortic valve morphology	4000	LMNA	ORPHA:79474
HP:0001646	Abnormal aortic valve morphology	10269	ZMPSTE24	ORPHA:740
HP:0001646	Abnormal aortic valve morphology	2629	GBA1	ORPHA:77261
HP:0001646	Abnormal aortic valve morphology	2629	GBA1	ORPHA:2072
HP:0001646	Abnormal aortic valve morphology	2629	GBA1	OMIM:231005
HP:0001646	Abnormal aortic valve morphology	23586	RIGI	OMIM:616298
HP:0001646	Abnormal aortic valve morphology	4851	NOTCH1	ORPHA:402075
HP:0001646	Abnormal aortic valve morphology	4851	NOTCH1	OMIM:109730
HP:0001646	Abnormal aortic valve morphology	140628	GATA5	ORPHA:402075
HP:0001646	Abnormal aortic valve morphology	4091	SMAD6	ORPHA:402075
HP:0001646	Abnormal aortic valve morphology	64132	XYLT2	OMIM:605822
HP:0001646	Abnormal aortic valve morphology	22827	PUF60	ORPHA:508488
HP:0001646	Abnormal aortic valve morphology	4784	NFIX	OMIM:602535
HP:0001646	Abnormal aortic valve morphology	171019	ADAMTS19	OMIM:620067
HP:0001646	Abnormal aortic valve morphology	10128	LRPPRC	OMIM:220111
HP:0001646	Abnormal aortic valve morphology	1482	NKX2-5	OMIM:614435
HP:0001646	Abnormal aortic valve morphology	23007	PLCH1	OMIM:619895
HP:0001646	Abnormal aortic valve morphology	153642	ARSK	OMIM:619698
HP:0001646	Abnormal aortic valve morphology	7148	TNXB	OMIM:606408
HP:0001647	Bicuspid aortic valve	22827	PUF60	ORPHA:508498
HP:0001647	Bicuspid aortic valve	10128	LRPPRC	OMIM:220111
HP:0001647	Bicuspid aortic valve	2294	FOXF1	OMIM:265380
HP:0001647	Bicuspid aortic valve	2294	FOXF1	ORPHA:210122
HP:0001647	Bicuspid aortic valve	151648	SGO1	OMIM:616201
HP:0001647	Bicuspid aortic valve	8473	OGT	OMIM:300997
HP:0001647	Bicuspid aortic valve	6873	TAF2	OMIM:615599
HP:0001647	Bicuspid aortic valve	6873	TAF2	ORPHA:397951
HP:0001647	Bicuspid aortic valve	6885	MAP3K7	OMIM:617137
HP:0001647	Bicuspid aortic valve	4091	SMAD6	OMIM:614823
HP:0001647	Bicuspid aortic valve	4091	SMAD6	ORPHA:402075
HP:0001647	Bicuspid aortic valve	2316	FLNA	OMIM:314400
HP:0001647	Bicuspid aortic valve	2316	FLNA	OMIM:300049
HP:0001647	Bicuspid aortic valve	2316	FLNA	ORPHA:555877
HP:0001647	Bicuspid aortic valve	6650	CAPN15	OMIM:619318
HP:0001647	Bicuspid aortic valve	3190	HNRNPK	ORPHA:453504
HP:0001647	Bicuspid aortic valve	3190	HNRNPK	ORPHA:352665
HP:0001647	Bicuspid aortic valve	10743	RAI1	ORPHA:477817
HP:0001647	Bicuspid aortic valve	1387	CREBBP	ORPHA:353281
HP:0001647	Bicuspid aortic valve	1387	CREBBP	ORPHA:353277
HP:0001647	Bicuspid aortic valve	4854	NOTCH3	OMIM:130720
HP:0001647	Bicuspid aortic valve	3020	H3-3A	OMIM:619720
HP:0001647	Bicuspid aortic valve	3021	H3-3B	OMIM:619721
HP:0001647	Bicuspid aortic valve	55784	MCTP2	ORPHA:1596
HP:0001647	Bicuspid aortic valve	55690	PACS1	OMIM:615009
HP:0001647	Bicuspid aortic valve	55690	PACS1	ORPHA:329224
HP:0001647	Bicuspid aortic valve	2201	FBN2	OMIM:121050
HP:0001647	Bicuspid aortic valve	2033	EP300	ORPHA:353284
HP:0001647	Bicuspid aortic valve	9126	SMC3	OMIM:610759
HP:0001647	Bicuspid aortic valve	55249	YY1AP1	OMIM:602531
HP:0001647	Bicuspid aortic valve	51816	ADA2	OMIM:182410
HP:0001647	Bicuspid aortic valve	284058	KANSL1	ORPHA:363958
HP:0001647	Bicuspid aortic valve	284058	KANSL1	ORPHA:363965
HP:0001647	Bicuspid aortic valve	284058	KANSL1	OMIM:610443
HP:0001647	Bicuspid aortic valve	2200	FBN1	OMIM:154700
HP:0001647	Bicuspid aortic valve	2200	FBN1	OMIM:184900
HP:0001647	Bicuspid aortic valve	2200	FBN1	ORPHA:91387
HP:0001647	Bicuspid aortic valve	8260	NAA10	OMIM:300855
HP:0001647	Bicuspid aortic valve	8260	NAA10	OMIM:309800
HP:0001647	Bicuspid aortic valve	64359	NXN	OMIM:618529
HP:0001647	Bicuspid aortic valve	4629	MYH11	OMIM:132900
HP:0001647	Bicuspid aortic valve	4629	MYH11	ORPHA:91387
HP:0001647	Bicuspid aortic valve	55764	IFT122	OMIM:218330
HP:0001647	Bicuspid aortic valve	4313	MMP2	ORPHA:371428
HP:0001647	Bicuspid aortic valve	4323	MMP14	ORPHA:371428
HP:0001647	Bicuspid aortic valve	9839	ZEB2	ORPHA:261552
HP:0001647	Bicuspid aortic valve	9839	ZEB2	ORPHA:261537
HP:0001647	Bicuspid aortic valve	4015	LOX	OMIM:617168
HP:0001647	Bicuspid aortic valve	4015	LOX	ORPHA:91387
HP:0001647	Bicuspid aortic valve	54538	ROBO4	OMIM:618496
HP:0001647	Bicuspid aortic valve	60	ACTB	OMIM:243310
HP:0001647	Bicuspid aortic valve	7490	WT1	OMIM:608978
HP:0001647	Bicuspid aortic valve	8493	PPM1D	OMIM:617450
HP:0001647	Bicuspid aortic valve	54880	BCOR	OMIM:309800
HP:0001647	Bicuspid aortic valve	5977	DPF2	OMIM:618027
HP:0001647	Bicuspid aortic valve	23118	TAB2	OMIM:614980
HP:0001647	Bicuspid aortic valve	6711	SPTBN1	OMIM:619475
HP:0001647	Bicuspid aortic valve	92002	CCNQ	OMIM:300707
HP:0001647	Bicuspid aortic valve	29957	SLC25A24	OMIM:612289
HP:0001647	Bicuspid aortic valve	1909	EDNRA	OMIM:616367
HP:0001647	Bicuspid aortic valve	57514	ARHGAP31	OMIM:100300
HP:0001647	Bicuspid aortic valve	6154	RPL26	OMIM:614900
HP:0001647	Bicuspid aortic valve	6804	STX1A	ORPHA:904
HP:0001647	Bicuspid aortic valve	7461	CLIP2	ORPHA:904
HP:0001647	Bicuspid aortic valve	84277	DNAJC30	ORPHA:904
HP:0001647	Bicuspid aortic valve	8468	FKBP6	ORPHA:904
HP:0001647	Bicuspid aortic valve	5982	RFC2	ORPHA:904
HP:0001647	Bicuspid aortic valve	2969	GTF2I	ORPHA:904
HP:0001647	Bicuspid aortic valve	3984	LIMK1	ORPHA:904
HP:0001647	Bicuspid aortic valve	9569	GTF2IRD1	ORPHA:904
HP:0001647	Bicuspid aortic valve	155382	VPS37D	ORPHA:904
HP:0001647	Bicuspid aortic valve	155368	METTL27	ORPHA:904
HP:0001647	Bicuspid aortic valve	114049	BUD23	ORPHA:904
HP:0001647	Bicuspid aortic valve	7458	EIF4H	ORPHA:904
HP:0001647	Bicuspid aortic valve	84163	GTF2IRD2	ORPHA:904
HP:0001647	Bicuspid aortic valve	9275	BCL7B	ORPHA:904
HP:0001647	Bicuspid aortic valve	26608	TBL2	ORPHA:904
HP:0001647	Bicuspid aortic valve	653361	NCF1	ORPHA:904
HP:0001647	Bicuspid aortic valve	135886	TMEM270	ORPHA:904
HP:0001647	Bicuspid aortic valve	51085	MLXIPL	ORPHA:904
HP:0001647	Bicuspid aortic valve	51085	MLXIPL	OMIM:194050
HP:0001647	Bicuspid aortic valve	9031	BAZ1B	ORPHA:904
HP:0001647	Bicuspid aortic valve	2006	ELN	ORPHA:904
HP:0001647	Bicuspid aortic valve	2006	ELN	OMIM:194050
HP:0001647	Bicuspid aortic valve	2006	ELN	ORPHA:91387
HP:0001647	Bicuspid aortic valve	79753	SNIP1	OMIM:614501
HP:0001647	Bicuspid aortic valve	171019	ADAMTS19	OMIM:620067
HP:0001647	Bicuspid aortic valve	83475	DOHH	OMIM:620066
HP:0001647	Bicuspid aortic valve	10060	ABCC9	OMIM:239850
HP:0001647	Bicuspid aortic valve	54828	BCAS3	OMIM:619641
HP:0001647	Bicuspid aortic valve	2222	FDFT1	OMIM:618156
HP:0001647	Bicuspid aortic valve	4780	NFE2L2	OMIM:617744
HP:0001647	Bicuspid aortic valve	2627	GATA6	OMIM:614475
HP:0001647	Bicuspid aortic valve	4625	MYH7	OMIM:613426
HP:0001647	Bicuspid aortic valve	9371	KIF3B	OMIM:618955
HP:0001647	Bicuspid aortic valve	4851	NOTCH1	ORPHA:402075
HP:0001647	Bicuspid aortic valve	4851	NOTCH1	OMIM:109730
HP:0001647	Bicuspid aortic valve	1482	NKX2-5	ORPHA:402075
HP:0001647	Bicuspid aortic valve	140628	GATA5	ORPHA:402075
HP:0001647	Bicuspid aortic valve	140628	GATA5	OMIM:617912
HP:0001647	Bicuspid aortic valve	93649	MYOCD	OMIM:618719
HP:0001647	Bicuspid aortic valve	126792	B3GALT6	OMIM:271640
HP:0001647	Bicuspid aortic valve	51322	WAC	ORPHA:284169
HP:0001647	Bicuspid aortic valve	5879	RAC1	OMIM:617751
HP:0001647	Bicuspid aortic valve	5879	RAC1	ORPHA:500159
HP:0001647	Bicuspid aortic valve	5528	PPP2R5D	ORPHA:457279
HP:0001647	Bicuspid aortic valve	4088	SMAD3	OMIM:613795
HP:0001647	Bicuspid aortic valve	4088	SMAD3	ORPHA:91387
HP:0001647	Bicuspid aortic valve	7048	TGFBR2	OMIM:610168
HP:0001647	Bicuspid aortic valve	7048	TGFBR2	ORPHA:91387
HP:0001647	Bicuspid aortic valve	55191	NADSYN1	OMIM:618845
HP:0001647	Bicuspid aortic valve	9469	CHST3	OMIM:245600
HP:0001647	Bicuspid aortic valve	26229	B3GAT3	OMIM:245600
HP:0001647	Bicuspid aortic valve	27161	AGO2	OMIM:619149
HP:0001647	Bicuspid aortic valve	583	BBS2	OMIM:615981
HP:0001647	Bicuspid aortic valve	2702	GJA5	OMIM:612474
HP:0001647	Bicuspid aortic valve	2703	GJA8	OMIM:612474
HP:0001647	Bicuspid aortic valve	867	CBL	OMIM:613563
HP:0001647	Bicuspid aortic valve	79875	THSD4	OMIM:619825
HP:0001647	Bicuspid aortic valve	9652	SKIC3	ORPHA:84064
HP:0001647	Bicuspid aortic valve	6499	SKIC2	ORPHA:84064
HP:0001647	Bicuspid aortic valve	6736	SRY	ORPHA:1772
HP:0001647	Bicuspid aortic valve	7046	TGFBR1	OMIM:609192
HP:0001647	Bicuspid aortic valve	7046	TGFBR1	ORPHA:91387
HP:0001647	Bicuspid aortic valve	7042	TGFB2	OMIM:614816
HP:0001647	Bicuspid aortic valve	7042	TGFB2	ORPHA:91387
HP:0001647	Bicuspid aortic valve	4087	SMAD2	ORPHA:91387
HP:0001647	Bicuspid aortic valve	7043	TGFB3	ORPHA:91387
HP:0001647	Bicuspid aortic valve	4089	SMAD4	ORPHA:91387
HP:0001647	Bicuspid aortic valve	59	ACTA2	ORPHA:91387
HP:0001647	Bicuspid aortic valve	5592	PRKG1	ORPHA:91387
HP:0001647	Bicuspid aortic valve	2301	FOXE3	ORPHA:91387
HP:0001647	Bicuspid aortic valve	4144	MAT2A	ORPHA:91387
HP:0001647	Bicuspid aortic valve	23493	HEY2	ORPHA:91387
HP:0001647	Bicuspid aortic valve	8076	MFAP5	ORPHA:91387
HP:0001647	Bicuspid aortic valve	4638	MYLK	ORPHA:91387
HP:0001647	Bicuspid aortic valve	58499	ZNF462	OMIM:618619
HP:0001648	Cor pulmonale	6720	SREBF1	OMIM:158310
HP:0001648	Cor pulmonale	2212	FCGR2A	OMIM:219700
HP:0001648	Cor pulmonale	7040	TGFB1	OMIM:219700
HP:0001648	Cor pulmonale	1080	CFTR	OMIM:219700
HP:0001648	Cor pulmonale	2316	FLNA	OMIM:305620
HP:0001648	Cor pulmonale	695	BTK	OMIM:300755
HP:0001648	Cor pulmonale	57190	SELENON	ORPHA:2020
HP:0001648	Cor pulmonale	58	ACTA1	ORPHA:2020
HP:0001648	Cor pulmonale	4633	MYL2	ORPHA:2020
HP:0001648	Cor pulmonale	3679	ITGA7	ORPHA:2020
HP:0001648	Cor pulmonale	7169	TPM2	ORPHA:2020
HP:0001648	Cor pulmonale	9200	HACD1	ORPHA:2020
HP:0001648	Cor pulmonale	7170	TPM3	ORPHA:2020
HP:0001648	Cor pulmonale	51776	MAP3K20	ORPHA:2020
HP:0001649	Tachycardia	8518	ELP1	OMIM:223900
HP:0001649	Tachycardia	8518	ELP1	ORPHA:1764
HP:0001649	Tachycardia	2328	FMO3	OMIM:602079
HP:0001649	Tachycardia	137814	NKX2-6	ORPHA:3384
HP:0001649	Tachycardia	23129	PLXND1	ORPHA:3384
HP:0001649	Tachycardia	6390	SDHB	OMIM:115310
HP:0001649	Tachycardia	6390	SDHB	OMIM:171300
HP:0001649	Tachycardia	55654	TMEM127	OMIM:171300
HP:0001649	Tachycardia	5979	RET	OMIM:171300
HP:0001649	Tachycardia	6392	SDHD	OMIM:171300
HP:0001649	Tachycardia	6392	SDHD	OMIM:168000
HP:0001649	Tachycardia	4149	MAX	OMIM:171300
HP:0001649	Tachycardia	7428	VHL	OMIM:171300
HP:0001649	Tachycardia	171023	ASXL1	ORPHA:98849
HP:0001649	Tachycardia	54790	TET2	ORPHA:98849
HP:0001649	Tachycardia	3815	KIT	ORPHA:98849
HP:0001649	Tachycardia	6427	SRSF2	ORPHA:98849
HP:0001649	Tachycardia	6335	SCN9A	OMIM:167400
HP:0001649	Tachycardia	3759	KCNJ2	OMIM:609622
HP:0001649	Tachycardia	2203	FBP1	ORPHA:348
HP:0001649	Tachycardia	2203	FBP1	OMIM:229700
HP:0001649	Tachycardia	7555	CNBP	OMIM:602668
HP:0001649	Tachycardia	374879	ZNF699	OMIM:619488
HP:0001649	Tachycardia	779	CACNA1S	OMIM:188580
HP:0001649	Tachycardia	779	CACNA1S	OMIM:601887
HP:0001649	Tachycardia	5498	PPOX	OMIM:176200
HP:0001649	Tachycardia	5498	PPOX	ORPHA:79473
HP:0001649	Tachycardia	3077	HFE	OMIM:176200
HP:0001649	Tachycardia	3145	HMBS	OMIM:176000
HP:0001649	Tachycardia	3145	HMBS	ORPHA:79276
HP:0001649	Tachycardia	6833	ABCC8	ORPHA:276575
HP:0001649	Tachycardia	6261	RYR1	OMIM:145600
HP:0001649	Tachycardia	6391	SDHC	OMIM:605373
HP:0001649	Tachycardia	745	MYRF	OMIM:618280
HP:0001649	Tachycardia	3767	KCNJ11	ORPHA:276580
HP:0001649	Tachycardia	8029	CUBN	ORPHA:35858
HP:0001649	Tachycardia	81693	AMN	ORPHA:35858
HP:0001649	Tachycardia	23630	KCNE5	ORPHA:130
HP:0001649	Tachycardia	10371	SEMA3A	ORPHA:130
HP:0001649	Tachycardia	54795	TRPM4	ORPHA:130
HP:0001649	Tachycardia	10021	HCN4	ORPHA:130
HP:0001649	Tachycardia	3764	KCNJ8	ORPHA:130
HP:0001649	Tachycardia	3752	KCND3	ORPHA:130
HP:0001649	Tachycardia	5318	PKP2	ORPHA:130
HP:0001649	Tachycardia	7871	SLMAP	ORPHA:130
HP:0001649	Tachycardia	10060	ABCC9	ORPHA:130
HP:0001649	Tachycardia	29098	RANGRF	ORPHA:130
HP:0001649	Tachycardia	6336	SCN10A	ORPHA:130
HP:0001649	Tachycardia	10008	KCNE3	ORPHA:130
HP:0001649	Tachycardia	55800	SCN3B	ORPHA:130
HP:0001649	Tachycardia	10142	AKAP9	ORPHA:130
HP:0001649	Tachycardia	783	CACNB2	ORPHA:130
HP:0001649	Tachycardia	6337	SCNN1A	ORPHA:130
HP:0001649	Tachycardia	6327	SCN2B	ORPHA:130
HP:0001649	Tachycardia	781	CACNA2D1	ORPHA:130
HP:0001649	Tachycardia	775	CACNA1C	ORPHA:130
HP:0001649	Tachycardia	6324	SCN1B	ORPHA:130
HP:0001649	Tachycardia	6331	SCN5A	ORPHA:130
HP:0001649	Tachycardia	6331	SCN5A	OMIM:603829
HP:0001649	Tachycardia	23171	GPD1L	ORPHA:130
HP:0001649	Tachycardia	65082	VPS33A	ORPHA:505248
HP:0001649	Tachycardia	1439	CSF2RB	ORPHA:264675
HP:0001649	Tachycardia	1438	CSF2RA	ORPHA:264675
HP:0001649	Tachycardia	55739	NAXD	OMIM:618321
HP:0001649	Tachycardia	442721	LMOD2	OMIM:619897
HP:0001649	Tachycardia	9692	PRORP	OMIM:619737
HP:0001649	Tachycardia	1889	ECE1	OMIM:613870
HP:0001649	Tachycardia	5236	PGM1	OMIM:614921
HP:0001649	Tachycardia	100134444	KCNJ18	OMIM:613239
HP:0001649	Tachycardia	1371	CPOX	OMIM:121300
HP:0001649	Tachycardia	1371	CPOX	ORPHA:79273
HP:0001649	Tachycardia	5837	PYGM	ORPHA:368
HP:0001649	Tachycardia	37	ACADVL	ORPHA:26793
HP:0001649	Tachycardia	3172	HNF4A	ORPHA:263455
HP:0001649	Tachycardia	6927	HNF1A	ORPHA:324575
HP:0001649	Tachycardia	667	DST	OMIM:614653
HP:0001649	Tachycardia	7253	TSHR	OMIM:609152
HP:0001649	Tachycardia	7253	TSHR	OMIM:603373
HP:0001649	Tachycardia	6736	SRY	ORPHA:1772
HP:0001649	Tachycardia	284119	CAVIN1	OMIM:613327
HP:0001649	Tachycardia	7351	UCP2	ORPHA:276556
HP:0001649	Tachycardia	6440	SFTPC	ORPHA:70587
HP:0001649	Tachycardia	21	ABCA3	ORPHA:70587
HP:0001649	Tachycardia	6439	SFTPB	ORPHA:70587
HP:0001649	Tachycardia	8942	KYNU	ORPHA:79155
HP:0001649	Tachycardia	6005	RHAG	ORPHA:71275
HP:0001649	Tachycardia	6006	RHCE	ORPHA:71275
HP:0001649	Tachycardia	6007	RHD	ORPHA:71275
HP:0001649	Tachycardia	2771	GNAI2	OMIM:192605
HP:0001649	Tachycardia	284252	KCTD1	OMIM:181270
HP:0001649	Tachycardia	7092	TLL1	ORPHA:99103
HP:0001649	Tachycardia	57057	TBX20	ORPHA:99103
HP:0001649	Tachycardia	1482	NKX2-5	ORPHA:99103
HP:0001649	Tachycardia	2626	GATA4	ORPHA:99103
HP:0001649	Tachycardia	2627	GATA6	ORPHA:99103
HP:0001649	Tachycardia	4000	LMNA	ORPHA:300751
HP:0001649	Tachycardia	9631	NUP155	OMIM:615770
HP:0001649	Tachycardia	80308	FLAD1	OMIM:255100
HP:0001649	Tachycardia	88	ACTN2	OMIM:612158
HP:0001649	Tachycardia	4633	MYL2	OMIM:608758
HP:0001649	Tachycardia	3920	LAMP2	OMIM:300257
HP:0001649	Tachycardia	4624	MYH6	OMIM:613251
HP:0001649	Tachycardia	8260	NAA10	OMIM:300855
HP:0001649	Tachycardia	8048	CSRP3	OMIM:612124
HP:0001649	Tachycardia	4878	NPPA	ORPHA:1344
HP:0001649	Tachycardia	57158	JPH2	OMIM:613873
HP:0001649	Tachycardia	788	SLC25A20	OMIM:212138
HP:0001649	Tachycardia	788	SLC25A20	ORPHA:159
HP:0001649	Tachycardia	1000	CDH2	OMIM:618920
HP:0001649	Tachycardia	801	CALM1	ORPHA:3286
HP:0001649	Tachycardia	801	CALM1	OMIM:614916
HP:0001649	Tachycardia	805	CALM2	ORPHA:3286
HP:0001649	Tachycardia	808	CALM3	ORPHA:3286
HP:0001649	Tachycardia	29119	CTNNA3	OMIM:615616
HP:0001649	Tachycardia	7168	TPM1	OMIM:611878
HP:0001649	Tachycardia	51778	MYOZ2	OMIM:613838
HP:0001649	Tachycardia	79188	TMEM43	OMIM:604400
HP:0001649	Tachycardia	1832	DSP	OMIM:605676
HP:0001649	Tachycardia	1832	DSP	OMIM:615821
HP:0001649	Tachycardia	1832	DSP	OMIM:607450
HP:0001649	Tachycardia	1410	CRYAB	OMIM:615184
HP:0001649	Tachycardia	2992	GYG1	ORPHA:263297
HP:0001649	Tachycardia	1829	DSG2	OMIM:610193
HP:0001649	Tachycardia	70	ACTC1	OMIM:612098
HP:0001649	Tachycardia	1376	CPT2	OMIM:600649
HP:0001649	Tachycardia	6559	SLC12A3	OMIM:263800
HP:0001649	Tachycardia	128989	TANGO2	OMIM:616878
HP:0001649	Tachycardia	4625	MYH7	OMIM:613426
HP:0001649	Tachycardia	9529	BAG5	OMIM:619747
HP:0001649	Tachycardia	56244	BTNL2	ORPHA:797
HP:0001649	Tachycardia	3123	HLA-DRB1	ORPHA:797
HP:0001649	Tachycardia	3728	JUP	OMIM:611528
HP:0001649	Tachycardia	650	BMP2	OMIM:617877
HP:0001649	Tachycardia	51086	TNNI3K	OMIM:616117
HP:0001649	Tachycardia	10560	SLC19A2	ORPHA:49827
HP:0001649	Tachycardia	161742	SPRED1	ORPHA:137605
HP:0001649	Tachycardia	1788	DNMT3A	ORPHA:404443
HP:0001649	Tachycardia	4519	MT-CYB	ORPHA:137675
HP:0001649	Tachycardia	1349	COX7B	OMIM:309801
HP:0001649	Tachycardia	3052	HCCS	OMIM:309801
HP:0001649	Tachycardia	54539	NDUFB11	OMIM:309801
HP:0001649	Tachycardia	10370	CITED2	ORPHA:99105
HP:0001649	Tachycardia	7273	TTN	OMIM:611705
HP:0001649	Tachycardia	3762	KCNJ5	ORPHA:37553
HP:0001649	Tachycardia	6262	RYR2	OMIM:604772
HP:0001649	Tachycardia	845	CASQ2	OMIM:604772
HP:0001649	Tachycardia	10345	TRDN	OMIM:604772
HP:0001649	Tachycardia	253017	TECRL	OMIM:614021
HP:0008843	Hip osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0008843	Hip osteoarthritis	6399	TRAPPC2	OMIM:313400
HP:0008843	Hip osteoarthritis	6775	STAT4	ORPHA:85408
HP:0008843	Hip osteoarthritis	3560	IL2RB	ORPHA:85408
HP:0008843	Hip osteoarthritis	79722	ANKRD55	ORPHA:85408
HP:0008843	Hip osteoarthritis	26191	PTPN22	ORPHA:85408
HP:0008843	Hip osteoarthritis	919	CD247	ORPHA:85408
HP:0008843	Hip osteoarthritis	3559	IL2RA	ORPHA:85408
HP:0008843	Hip osteoarthritis	5771	PTPN2	ORPHA:85408
HP:0008843	Hip osteoarthritis	1280	COL2A1	OMIM:604864
HP:0008843	Hip osteoarthritis	1280	COL2A1	OMIM:619248
HP:0008843	Hip osteoarthritis	1280	COL2A1	ORPHA:86820
HP:0008843	Hip osteoarthritis	1311	COMP	OMIM:132400
HP:0008843	Hip osteoarthritis	59341	TRPV4	ORPHA:86820
HP:0008843	Hip osteoarthritis	8200	GDF5	ORPHA:63442
HP:0008843	Hip osteoarthritis	4088	SMAD3	OMIM:613795
HP:0008843	Hip osteoarthritis	4087	SMAD2	OMIM:619656
HP:0008843	Hip osteoarthritis	1186	CLCN7	OMIM:166600
HP:0008843	Hip osteoarthritis	2487	FRZB	OMIM:165720
HP:0008843	Hip osteoarthritis	176	ACAN	OMIM:165800
HP:0008843	Hip osteoarthritis	3106	HLA-B	OMIM:106300
HP:0003110	Abnormality of urine homeostasis	25970	SH2B1	ORPHA:261222
HP:0003110	Abnormality of urine homeostasis	2132	EXT2	OMIM:616682
HP:0003110	Abnormality of urine homeostasis	8029	CUBN	OMIM:261100
HP:0003110	Abnormality of urine homeostasis	8029	CUBN	ORPHA:35858
HP:0003110	Abnormality of urine homeostasis	8029	CUBN	OMIM:618884
HP:0003110	Abnormality of urine homeostasis	4010	LMX1B	ORPHA:2613
HP:0003110	Abnormality of urine homeostasis	4010	LMX1B	ORPHA:2614
HP:0003110	Abnormality of urine homeostasis	4010	LMX1B	OMIM:161200
HP:0003110	Abnormality of urine homeostasis	4010	LMX1B	OMIM:256020
HP:0003110	Abnormality of urine homeostasis	55654	TMEM127	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	55654	TMEM127	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	5979	RET	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	5979	RET	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	5979	RET	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	6390	SDHB	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	6390	SDHB	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	6390	SDHB	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	6392	SDHD	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	6392	SDHD	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	6392	SDHD	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	4149	MAX	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	4149	MAX	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	7428	VHL	OMIM:171300
HP:0003110	Abnormality of urine homeostasis	7428	VHL	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	7428	VHL	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	84942	WDR73	OMIM:251300
HP:0003110	Abnormality of urine homeostasis	84942	WDR73	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	2542	SLC37A4	OMIM:232220
HP:0003110	Abnormality of urine homeostasis	2542	SLC37A4	OMIM:232240
HP:0003110	Abnormality of urine homeostasis	2542	SLC37A4	ORPHA:79259
HP:0003110	Abnormality of urine homeostasis	1161	ERCC8	ORPHA:90321
HP:0003110	Abnormality of urine homeostasis	1161	ERCC8	OMIM:216400
HP:0003110	Abnormality of urine homeostasis	2074	ERCC6	ORPHA:90321
HP:0003110	Abnormality of urine homeostasis	2074	ERCC6	OMIM:133540
HP:0003110	Abnormality of urine homeostasis	23607	CD2AP	OMIM:607832
HP:0003110	Abnormality of urine homeostasis	23607	CD2AP	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	396	ARHGDIA	OMIM:615244
HP:0003110	Abnormality of urine homeostasis	396	ARHGDIA	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	3162	HMOX1	OMIM:614034
HP:0003110	Abnormality of urine homeostasis	25959	KANK2	OMIM:617783
HP:0003110	Abnormality of urine homeostasis	65082	VPS33A	OMIM:617303
HP:0003110	Abnormality of urine homeostasis	65082	VPS33A	ORPHA:505248
HP:0003110	Abnormality of urine homeostasis	6595	SMARCA2	ORPHA:2728
HP:0003110	Abnormality of urine homeostasis	8526	DGKE	OMIM:615008
HP:0003110	Abnormality of urine homeostasis	79693	YRDC	OMIM:619609
HP:0003110	Abnormality of urine homeostasis	4868	NPHS1	OMIM:256300
HP:0003110	Abnormality of urine homeostasis	4868	NPHS1	ORPHA:839
HP:0003110	Abnormality of urine homeostasis	4868	NPHS1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	81693	AMN	ORPHA:35858
HP:0003110	Abnormality of urine homeostasis	81693	AMN	OMIM:618882
HP:0003110	Abnormality of urine homeostasis	7827	NPHS2	OMIM:600995
HP:0003110	Abnormality of urine homeostasis	7827	NPHS2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	1777	DNASE2	OMIM:619858
HP:0003110	Abnormality of urine homeostasis	2538	G6PC1	OMIM:232200
HP:0003110	Abnormality of urine homeostasis	6773	STAT2	OMIM:618886
HP:0003110	Abnormality of urine homeostasis	1801	DPH1	OMIM:616901
HP:0003110	Abnormality of urine homeostasis	84823	LMNB2	ORPHA:79087
HP:0003110	Abnormality of urine homeostasis	84823	LMNB2	OMIM:608709
HP:0003110	Abnormality of urine homeostasis	1788	DNMT3A	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	2034	EPAS1	ORPHA:276621
HP:0003110	Abnormality of urine homeostasis	83480	PUS3	ORPHA:488627
HP:0003110	Abnormality of urine homeostasis	7490	WT1	OMIM:136680
HP:0003110	Abnormality of urine homeostasis	7490	WT1	ORPHA:347
HP:0003110	Abnormality of urine homeostasis	7490	WT1	ORPHA:220
HP:0003110	Abnormality of urine homeostasis	7490	WT1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	4036	LRP2	ORPHA:2143
HP:0003110	Abnormality of urine homeostasis	4036	LRP2	OMIM:222448
HP:0003110	Abnormality of urine homeostasis	950	SCARB2	OMIM:254900
HP:0003110	Abnormality of urine homeostasis	950	SCARB2	ORPHA:77259
HP:0003110	Abnormality of urine homeostasis	54	ACP5	ORPHA:1855
HP:0003110	Abnormality of urine homeostasis	5373	PMM2	OMIM:212065
HP:0003110	Abnormality of urine homeostasis	5373	PMM2	ORPHA:79318
HP:0003110	Abnormality of urine homeostasis	4069	LYZ	OMIM:105200
HP:0003110	Abnormality of urine homeostasis	2243	FGA	OMIM:105200
HP:0003110	Abnormality of urine homeostasis	335	APOA1	OMIM:105200
HP:0003110	Abnormality of urine homeostasis	567	B2M	OMIM:105200
HP:0003110	Abnormality of urine homeostasis	5972	REN	OMIM:613092
HP:0003110	Abnormality of urine homeostasis	8879	SGPL1	OMIM:617575
HP:0003110	Abnormality of urine homeostasis	11277	TREX1	OMIM:192315
HP:0003110	Abnormality of urine homeostasis	11277	TREX1	ORPHA:247691
HP:0003110	Abnormality of urine homeostasis	5076	PAX2	OMIM:616002
HP:0003110	Abnormality of urine homeostasis	5076	PAX2	ORPHA:97362
HP:0003110	Abnormality of urine homeostasis	5076	PAX2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	5076	PAX2	OMIM:120330
HP:0003110	Abnormality of urine homeostasis	1743	DLST	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	4191	MDH2	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	6389	SDHA	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	23095	KIF1B	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	8402	SLC25A11	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	54949	SDHAF2	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	4763	NF1	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	6391	SDHC	ORPHA:29072
HP:0003110	Abnormality of urine homeostasis	2321	FLT1	ORPHA:275555
HP:0003110	Abnormality of urine homeostasis	219736	STOX1	ORPHA:275555
HP:0003110	Abnormality of urine homeostasis	10699	CORIN	ORPHA:275555
HP:0003110	Abnormality of urine homeostasis	1493	CTLA4	ORPHA:900
HP:0003110	Abnormality of urine homeostasis	26191	PTPN22	ORPHA:900
HP:0003110	Abnormality of urine homeostasis	3115	HLA-DPB1	ORPHA:900
HP:0003110	Abnormality of urine homeostasis	5657	PRTN3	ORPHA:900
HP:0003110	Abnormality of urine homeostasis	3113	HLA-DPA1	ORPHA:900
HP:0003110	Abnormality of urine homeostasis	3675	ITGA3	OMIM:614748
HP:0003110	Abnormality of urine homeostasis	4567	MT-TL1	ORPHA:225
HP:0003110	Abnormality of urine homeostasis	4567	MT-TL1	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4556	MT-TE	ORPHA:225
HP:0003110	Abnormality of urine homeostasis	4566	MT-TK	ORPHA:225
HP:0003110	Abnormality of urine homeostasis	4210	MEFV	ORPHA:342
HP:0003110	Abnormality of urine homeostasis	4210	MEFV	OMIM:134610
HP:0003110	Abnormality of urine homeostasis	3931	LCAT	OMIM:245900
HP:0003110	Abnormality of urine homeostasis	4094	MAF	ORPHA:1272
HP:0003110	Abnormality of urine homeostasis	2934	GSN	ORPHA:85448
HP:0003110	Abnormality of urine homeostasis	3913	LAMB2	OMIM:614199
HP:0003110	Abnormality of urine homeostasis	3913	LAMB2	OMIM:609049
HP:0003110	Abnormality of urine homeostasis	5800	PTPRO	OMIM:614196
HP:0003110	Abnormality of urine homeostasis	5800	PTPRO	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	6288	SAA1	ORPHA:85445
HP:0003110	Abnormality of urine homeostasis	50485	SMARCAL1	ORPHA:1830
HP:0003110	Abnormality of urine homeostasis	50485	SMARCAL1	OMIM:242900
HP:0003110	Abnormality of urine homeostasis	8481	OFD1	OMIM:311200
HP:0003110	Abnormality of urine homeostasis	8481	OFD1	ORPHA:2750
HP:0003110	Abnormality of urine homeostasis	10253	SPRY2	OMIM:616818
HP:0003110	Abnormality of urine homeostasis	4846	NOS3	OMIM:189800
HP:0003110	Abnormality of urine homeostasis	2717	GLA	OMIM:301500
HP:0003110	Abnormality of urine homeostasis	2717	GLA	ORPHA:324
HP:0003110	Abnormality of urine homeostasis	25836	NIPBL	OMIM:122470
HP:0003110	Abnormality of urine homeostasis	2303	FOXC2	ORPHA:33001
HP:0003110	Abnormality of urine homeostasis	5836	PYGL	ORPHA:369
HP:0003110	Abnormality of urine homeostasis	51196	PLCE1	OMIM:610725
HP:0003110	Abnormality of urine homeostasis	51196	PLCE1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	2629	GBA1	ORPHA:77261
HP:0003110	Abnormality of urine homeostasis	2629	GBA1	ORPHA:77259
HP:0003110	Abnormality of urine homeostasis	54443	ANLN	OMIM:616032
HP:0003110	Abnormality of urine homeostasis	54443	ANLN	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	51004	COQ6	OMIM:614650
HP:0003110	Abnormality of urine homeostasis	7535	ZAP70	OMIM:617006
HP:0003110	Abnormality of urine homeostasis	57107	PDSS2	OMIM:614652
HP:0003110	Abnormality of urine homeostasis	81603	TRIM8	OMIM:619428
HP:0003110	Abnormality of urine homeostasis	6559	SLC12A3	ORPHA:358
HP:0003110	Abnormality of urine homeostasis	1288	COL4A6	ORPHA:1018
HP:0003110	Abnormality of urine homeostasis	1287	COL4A5	ORPHA:1018
HP:0003110	Abnormality of urine homeostasis	1287	COL4A5	OMIM:301050
HP:0003110	Abnormality of urine homeostasis	4558	MT-TF	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4572	MT-TQ	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4512	MT-CO1	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4513	MT-CO2	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4514	MT-CO3	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4578	MT-TW	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4540	MT-ND5	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4541	MT-ND6	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4535	MT-ND1	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4538	MT-ND4	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4575	MT-TS2	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	4564	MT-TH	ORPHA:550
HP:0003110	Abnormality of urine homeostasis	5087	PBX1	ORPHA:97362
HP:0003110	Abnormality of urine homeostasis	10785	WDR4	OMIM:618347
HP:0003110	Abnormality of urine homeostasis	10785	WDR4	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	57122	NUP107	OMIM:618348
HP:0003110	Abnormality of urine homeostasis	57122	NUP107	OMIM:616730
HP:0003110	Abnormality of urine homeostasis	57122	NUP107	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	57122	NUP107	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	55746	NUP133	OMIM:618349
HP:0003110	Abnormality of urine homeostasis	55746	NUP133	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	55746	NUP133	OMIM:618177
HP:0003110	Abnormality of urine homeostasis	55746	NUP133	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	4179	CD46	OMIM:612922
HP:0003110	Abnormality of urine homeostasis	4179	CD46	ORPHA:244242
HP:0003110	Abnormality of urine homeostasis	6775	STAT4	ORPHA:93552
HP:0003110	Abnormality of urine homeostasis	6696	SPP1	ORPHA:93552
HP:0003110	Abnormality of urine homeostasis	3654	IRAK1	ORPHA:93552
HP:0003110	Abnormality of urine homeostasis	629	CFB	OMIM:612924
HP:0003110	Abnormality of urine homeostasis	3426	CFI	OMIM:612923
HP:0003110	Abnormality of urine homeostasis	3426	CFI	ORPHA:244242
HP:0003110	Abnormality of urine homeostasis	1776	DNASE1L3	ORPHA:36412
HP:0003110	Abnormality of urine homeostasis	7056	THBD	OMIM:612926
HP:0003110	Abnormality of urine homeostasis	718	C3	OMIM:612925
HP:0003110	Abnormality of urine homeostasis	55243	KIRREL1	OMIM:619201
HP:0003110	Abnormality of urine homeostasis	9342	SNAP29	ORPHA:66631
HP:0003110	Abnormality of urine homeostasis	11093	ADAMTS13	OMIM:274150
HP:0003110	Abnormality of urine homeostasis	9688	NUP93	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	4643	MYO1E	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	4643	MYO1E	OMIM:614131
HP:0003110	Abnormality of urine homeostasis	64423	INF2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	64423	INF2	OMIM:613237
HP:0003110	Abnormality of urine homeostasis	64423	INF2	OMIM:614455
HP:0003110	Abnormality of urine homeostasis	26130	GAPVD1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	51479	ANKFY1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	286204	CRB2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	23165	NUP205	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	2013	EMP2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	79023	NUP37	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	79902	NUP85	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	79902	NUP85	OMIM:618176
HP:0003110	Abnormality of urine homeostasis	1285	COL4A3	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	1285	COL4A3	OMIM:203780
HP:0003110	Abnormality of urine homeostasis	1285	COL4A3	OMIM:104200
HP:0003110	Abnormality of urine homeostasis	79934	COQ8B	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	79934	COQ8B	OMIM:615573
HP:0003110	Abnormality of urine homeostasis	23279	NUP160	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	23279	NUP160	OMIM:618178
HP:0003110	Abnormality of urine homeostasis	9863	MAGI2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	9863	MAGI2	OMIM:617609
HP:0003110	Abnormality of urine homeostasis	81	ACTN4	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	81	ACTN4	OMIM:603278
HP:0003110	Abnormality of urine homeostasis	7225	TRPC6	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	7225	TRPC6	OMIM:603965
HP:0003110	Abnormality of urine homeostasis	8542	APOL1	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	54885	TBC1D8B	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	54885	TBC1D8B	OMIM:301028
HP:0003110	Abnormality of urine homeostasis	83478	ARHGAP24	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	23500	DAAM2	ORPHA:656
HP:0003110	Abnormality of urine homeostasis	9663	LPIN2	ORPHA:77297
HP:0003110	Abnormality of urine homeostasis	27235	COQ2	OMIM:607426
HP:0003110	Abnormality of urine homeostasis	5277	PIGA	ORPHA:447
HP:0003110	Abnormality of urine homeostasis	55644	OSGEP	OMIM:617729
HP:0003110	Abnormality of urine homeostasis	55644	OSGEP	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	27031	NPHP3	OMIM:604387
HP:0003110	Abnormality of urine homeostasis	26160	IFT172	OMIM:619471
HP:0003110	Abnormality of urine homeostasis	112858	TP53RK	OMIM:617730
HP:0003110	Abnormality of urine homeostasis	112858	TP53RK	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	8270	LAGE3	OMIM:301006
HP:0003110	Abnormality of urine homeostasis	8270	LAGE3	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	1286	COL4A4	OMIM:203780
HP:0003110	Abnormality of urine homeostasis	51002	TPRKB	OMIM:617731
HP:0003110	Abnormality of urine homeostasis	51002	TPRKB	ORPHA:2065
HP:0003110	Abnormality of urine homeostasis	2335	FN1	ORPHA:84090
HP:0003110	Abnormality of urine homeostasis	2335	FN1	OMIM:601894
HP:0003110	Abnormality of urine homeostasis	9935	MAFB	ORPHA:2774
HP:0003110	Abnormality of urine homeostasis	9935	MAFB	OMIM:166300
HP:0003110	Abnormality of urine homeostasis	23630	KCNE5	ORPHA:86818
HP:0003110	Abnormality of urine homeostasis	2182	ACSL4	ORPHA:86818
HP:0003110	Abnormality of urine homeostasis	100147744	RNU7-1	OMIM:619487
HP:0003110	Abnormality of urine homeostasis	10651	MTX2	OMIM:619127
HP:0003110	Abnormality of urine homeostasis	3075	CFH	ORPHA:244242
HP:0003110	Abnormality of urine homeostasis	101101692	HELLPAR	ORPHA:244242
HP:0003110	Abnormality of urine homeostasis	2625	GATA3	OMIM:146255
HP:0003110	Abnormality of urine homeostasis	353	APRT	ORPHA:976
HP:0003110	Abnormality of urine homeostasis	55898	UNC45A	OMIM:619377
HP:0003110	Abnormality of urine homeostasis	348	APOE	OMIM:611771
HP:0003110	Abnormality of urine homeostasis	4853	NOTCH2	OMIM:610205
HP:0003110	Abnormality of urine homeostasis	8516	ITGA8	OMIM:191830
HP:0003110	Abnormality of urine homeostasis	9051	PSTPIP1	ORPHA:69126
HP:0003110	Abnormality of urine homeostasis	57728	WDR19	OMIM:614376
HP:0003110	Abnormality of urine homeostasis	57728	WDR19	OMIM:614377
HP:0003110	Abnormality of urine homeostasis	4627	MYH9	ORPHA:182050
HP:0003110	Abnormality of urine homeostasis	54938	SARS2	OMIM:613845
HP:0003110	Abnormality of urine homeostasis	22909	FAN1	OMIM:614817
HP:0003110	Abnormality of urine homeostasis	5251	PHEX	OMIM:307800
HP:0003110	Abnormality of urine homeostasis	5251	PHEX	ORPHA:89936
HP:0003110	Abnormality of urine homeostasis	3636	INPPL1	OMIM:258480
HP:0003110	Abnormality of urine homeostasis	6337	SCNN1A	OMIM:264350
HP:0003110	Abnormality of urine homeostasis	1589	CYP21A2	OMIM:201910
HP:0003110	Abnormality of urine homeostasis	190	NR0B1	OMIM:300200
HP:0003110	Abnormality of urine homeostasis	4582	MUC1	OMIM:174000
HP:0003110	Abnormality of urine homeostasis	3773	KCNJ16	OMIM:619406
HP:0003110	Abnormality of urine homeostasis	3284	HSD3B2	ORPHA:90791
HP:0003110	Abnormality of urine homeostasis	1584	CYP11B1	ORPHA:90795
HP:0003110	Abnormality of urine homeostasis	476	ATP1A1	OMIM:618314
HP:0003110	Abnormality of urine homeostasis	476	ATP1A1	ORPHA:564178
HP:0003110	Abnormality of urine homeostasis	3106	HLA-B	ORPHA:397
HP:0003110	Abnormality of urine homeostasis	8974	P4HA2	ORPHA:397
HP:0003110	Abnormality of urine homeostasis	3655	ITGA6	ORPHA:79403
HP:0003110	Abnormality of urine homeostasis	3691	ITGB4	ORPHA:79403
HP:0003110	Abnormality of urine homeostasis	6720	SREBF1	OMIM:158310
HP:0003110	Abnormality of urine homeostasis	23395	LARS2	OMIM:617021
HP:0003110	Abnormality of urine homeostasis	10413	YAP1	ORPHA:1473
HP:0003110	Abnormality of urine homeostasis	10413	YAP1	OMIM:120433
HP:0003110	Abnormality of urine homeostasis	7248	TSC1	ORPHA:538
HP:0003110	Abnormality of urine homeostasis	7249	TSC2	ORPHA:538
HP:0003110	Abnormality of urine homeostasis	5978	REST	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	129563	DIS3L2	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	675	BRCA2	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	9319	TRIP13	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	10155	TRIM28	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	11281	POU6F2	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	2719	GPC3	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	283120	H19	ORPHA:654
HP:0003110	Abnormality of urine homeostasis	3043	HBB	OMIM:603903
HP:0003110	Abnormality of urine homeostasis	55109	AGGF1	ORPHA:90308
HP:0003110	Abnormality of urine homeostasis	2159	F10	ORPHA:328
HP:0003110	Abnormality of urine homeostasis	2153	F5	ORPHA:326
HP:0003110	Abnormality of urine homeostasis	84818	IL17RC	ORPHA:1334
HP:0003110	Abnormality of urine homeostasis	64581	CLEC7A	ORPHA:1334
HP:0003110	Abnormality of urine homeostasis	23765	IL17RA	ORPHA:1334
HP:0003110	Abnormality of urine homeostasis	10758	TRAF3IP2	ORPHA:1334
HP:0003110	Abnormality of urine homeostasis	112744	IL17F	ORPHA:1334
HP:0003110	Abnormality of urine homeostasis	6711	SPTBN1	OMIM:619475
HP:0003110	Abnormality of urine homeostasis	1282	COL4A1	ORPHA:73229
HP:0003110	Abnormality of urine homeostasis	1282	COL4A1	OMIM:611773
HP:0003110	Abnormality of urine homeostasis	5345	SERPINF2	ORPHA:79
HP:0003110	Abnormality of urine homeostasis	3998	LMAN1	ORPHA:35909
HP:0003110	Abnormality of urine homeostasis	90411	MCFD2	ORPHA:35909
HP:0003110	Abnormality of urine homeostasis	6786	STIM1	OMIM:185070
HP:0003110	Abnormality of urine homeostasis	3673	ITGA2	ORPHA:853
HP:0003110	Abnormality of urine homeostasis	135228	CD109	ORPHA:853
HP:0003110	Abnormality of urine homeostasis	2658	GDF2	ORPHA:774
HP:0003110	Abnormality of urine homeostasis	94	ACVRL1	ORPHA:774
HP:0003110	Abnormality of urine homeostasis	2022	ENG	ORPHA:774
HP:0003110	Abnormality of urine homeostasis	5371	PML	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	5914	RARA	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	359948	IRF2BP2	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	81608	FIP1L1	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	4869	NPM1	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	54880	BCOR	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	64859	NABP1	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	6777	STAT5B	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	4926	NUMA1	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	7704	ZBTB16	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	79718	TBL1XR1	ORPHA:520
HP:0003110	Abnormality of urine homeostasis	10568	SLC34A2	ORPHA:60025
HP:0003110	Abnormality of urine homeostasis	283209	PGM2L1	OMIM:620191
HP:0003110	Abnormality of urine homeostasis	5442	POLRMT	OMIM:619743
HP:0003110	Abnormality of urine homeostasis	291	SLC25A4	OMIM:617184
HP:0003110	Abnormality of urine homeostasis	51660	MPC1	OMIM:614741
HP:0003110	Abnormality of urine homeostasis	80308	FLAD1	OMIM:255100
HP:0003110	Abnormality of urine homeostasis	686	BTD	OMIM:253260
HP:0003110	Abnormality of urine homeostasis	686	BTD	ORPHA:79241
HP:0003110	Abnormality of urine homeostasis	60386	SLC25A19	ORPHA:99742
HP:0003110	Abnormality of urine homeostasis	79581	SLC52A2	OMIM:614707
HP:0003110	Abnormality of urine homeostasis	9949	AMMECR1	OMIM:300990
HP:0003110	Abnormality of urine homeostasis	7809	BSND	ORPHA:89938
HP:0003110	Abnormality of urine homeostasis	1188	CLCNKB	ORPHA:89938
HP:0003110	Abnormality of urine homeostasis	1187	CLCNKA	ORPHA:89938
HP:0003110	Abnormality of urine homeostasis	51604	PIGT	OMIM:615398
HP:0003110	Abnormality of urine homeostasis	51604	PIGT	ORPHA:369837
HP:0003110	Abnormality of urine homeostasis	3643	INSR	ORPHA:508
HP:0003110	Abnormality of urine homeostasis	6804	STX1A	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	7461	CLIP2	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	84277	DNAJC30	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	8468	FKBP6	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	5982	RFC2	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	2969	GTF2I	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	3984	LIMK1	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	155382	VPS37D	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	155368	METTL27	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	114049	BUD23	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	7458	EIF4H	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	9275	BCL7B	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	26608	TBL2	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	653361	NCF1	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	135886	TMEM270	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	51085	MLXIPL	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	51085	MLXIPL	OMIM:194050
HP:0003110	Abnormality of urine homeostasis	9031	BAZ1B	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	2006	ELN	ORPHA:904
HP:0003110	Abnormality of urine homeostasis	2006	ELN	OMIM:194050
HP:0003110	Abnormality of urine homeostasis	2767	GNA11	ORPHA:428
HP:0003110	Abnormality of urine homeostasis	56606	SLC2A9	ORPHA:94088
HP:0003110	Abnormality of urine homeostasis	116085	SLC22A12	ORPHA:94088
HP:0003110	Abnormality of urine homeostasis	55811	ADCY10	OMIM:143870
HP:0003110	Abnormality of urine homeostasis	55811	ADCY10	ORPHA:2197
HP:0003110	Abnormality of urine homeostasis	249	ALPL	OMIM:241500
HP:0003110	Abnormality of urine homeostasis	10686	CLDN16	OMIM:248250
HP:0003110	Abnormality of urine homeostasis	1027	CDKN1B	ORPHA:652
HP:0003110	Abnormality of urine homeostasis	1026	CDKN1A	ORPHA:652
HP:0003110	Abnormality of urine homeostasis	1030	CDKN2B	ORPHA:652
HP:0003110	Abnormality of urine homeostasis	1031	CDKN2C	ORPHA:652
HP:0003110	Abnormality of urine homeostasis	10916	MAGED2	OMIM:300971
HP:0003110	Abnormality of urine homeostasis	2212	FCGR2A	OMIM:219700
HP:0003110	Abnormality of urine homeostasis	7040	TGFB1	OMIM:219700
HP:0003110	Abnormality of urine homeostasis	1080	CFTR	OMIM:219700
HP:0003110	Abnormality of urine homeostasis	3123	HLA-DRB1	OMIM:181000
HP:0003110	Abnormality of urine homeostasis	3123	HLA-DRB1	ORPHA:797
HP:0003110	Abnormality of urine homeostasis	5286	PIK3C2A	OMIM:618440
HP:0003110	Abnormality of urine homeostasis	3762	KCNJ5	OMIM:613677
HP:0003110	Abnormality of urine homeostasis	3762	KCNJ5	ORPHA:251274
HP:0003110	Abnormality of urine homeostasis	6928	HNF1B	ORPHA:1309
HP:0003110	Abnormality of urine homeostasis	4982	TNFRSF11B	OMIM:239000
HP:0003110	Abnormality of urine homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0003110	Abnormality of urine homeostasis	6557	SLC12A1	OMIM:601678
HP:0003110	Abnormality of urine homeostasis	3758	KCNJ1	OMIM:241200
HP:0003110	Abnormality of urine homeostasis	149461	CLDN19	OMIM:248190
HP:0003110	Abnormality of urine homeostasis	1591	CYP24A1	OMIM:143880
HP:0003110	Abnormality of urine homeostasis	1028	CDKN1C	OMIM:614732
HP:0003110	Abnormality of urine homeostasis	56244	BTNL2	ORPHA:797
HP:0003110	Abnormality of urine homeostasis	444	ASPH	OMIM:601552
HP:0003110	Abnormality of urine homeostasis	4552	MTRR	OMIM:236270
HP:0003110	Abnormality of urine homeostasis	4524	MTHFR	OMIM:236250
HP:0003110	Abnormality of urine homeostasis	4524	MTHFR	ORPHA:395
HP:0003110	Abnormality of urine homeostasis	55788	LMBRD1	OMIM:277380
HP:0003110	Abnormality of urine homeostasis	3054	HCFC1	OMIM:309541
HP:0003110	Abnormality of urine homeostasis	875	CBS	OMIM:236200
HP:0003110	Abnormality of urine homeostasis	5826	ABCD4	OMIM:614857
HP:0003110	Abnormality of urine homeostasis	4548	MTR	OMIM:250940
HP:0003110	Abnormality of urine homeostasis	27249	MMADHC	OMIM:277410
HP:0003110	Abnormality of urine homeostasis	25974	MMACHC	OMIM:277400
HP:0003110	Abnormality of urine homeostasis	5052	PRDX1	OMIM:277400
HP:0003110	Abnormality of urine homeostasis	6448	SGSH	OMIM:252900
HP:0003110	Abnormality of urine homeostasis	138050	HGSNAT	OMIM:252930
HP:0003110	Abnormality of urine homeostasis	4669	NAGLU	OMIM:252920
HP:0003110	Abnormality of urine homeostasis	2799	GNS	OMIM:252940
HP:0003110	Abnormality of urine homeostasis	9722	NOS1AP	OMIM:619155
HP:0003110	Abnormality of urine homeostasis	2147	F2	ORPHA:325
HP:0003110	Abnormality of urine homeostasis	81494	CFHR5	OMIM:614809
HP:0003110	Abnormality of urine homeostasis	2184	FAH	ORPHA:882
HP:0003110	Abnormality of urine homeostasis	1594	CYP27B1	OMIM:264700
HP:0003110	Abnormality of urine homeostasis	1594	CYP27B1	ORPHA:289157
HP:0003110	Abnormality of urine homeostasis	120227	CYP2R1	ORPHA:289157
HP:0003110	Abnormality of urine homeostasis	1716	DGUOK	OMIM:251880
HP:0003110	Abnormality of urine homeostasis	3033	HADH	OMIM:231530
HP:0003110	Abnormality of urine homeostasis	3033	HADH	ORPHA:71212
HP:0003110	Abnormality of urine homeostasis	5837	PYGM	OMIM:232600
HP:0003110	Abnormality of urine homeostasis	5257	PHKB	ORPHA:79240
HP:0003110	Abnormality of urine homeostasis	1376	CPT2	ORPHA:228302
HP:0003110	Abnormality of urine homeostasis	1376	CPT2	ORPHA:228305
HP:0003110	Abnormality of urine homeostasis	1376	CPT2	ORPHA:228308
HP:0003110	Abnormality of urine homeostasis	1376	CPT2	OMIM:255110
HP:0003110	Abnormality of urine homeostasis	779	CACNA1S	ORPHA:423
HP:0003110	Abnormality of urine homeostasis	6261	RYR1	ORPHA:423
HP:0003110	Abnormality of urine homeostasis	6261	RYR1	OMIM:145600
HP:0003110	Abnormality of urine homeostasis	23479	ISCU	OMIM:255125
HP:0003110	Abnormality of urine homeostasis	226	ALDOA	ORPHA:57
HP:0003110	Abnormality of urine homeostasis	23175	LPIN1	OMIM:268200
HP:0003110	Abnormality of urine homeostasis	5224	PGAM2	OMIM:261670
HP:0003110	Abnormality of urine homeostasis	5256	PHKA2	ORPHA:264580
HP:0003110	Abnormality of urine homeostasis	5261	PHKG2	ORPHA:264580
HP:0003110	Abnormality of urine homeostasis	90523	MLIP	OMIM:620138
HP:0003110	Abnormality of urine homeostasis	3939	LDHA	OMIM:612933
HP:0003110	Abnormality of urine homeostasis	6443	SGCB	ORPHA:119
HP:0003110	Abnormality of urine homeostasis	5230	PGK1	ORPHA:713
HP:0003110	Abnormality of urine homeostasis	3030	HADHA	OMIM:609015
HP:0003110	Abnormality of urine homeostasis	1756	DMD	ORPHA:98895
HP:0003110	Abnormality of urine homeostasis	203859	ANO5	ORPHA:206549
HP:0003110	Abnormality of urine homeostasis	38	ACAT1	ORPHA:134
HP:0003110	Abnormality of urine homeostasis	84987	COX14	OMIM:619053
HP:0003110	Abnormality of urine homeostasis	10128	LRPPRC	OMIM:220111
HP:0003110	Abnormality of urine homeostasis	3155	HMGCL	ORPHA:20
HP:0003110	Abnormality of urine homeostasis	3155	HMGCL	OMIM:246450
HP:0003110	Abnormality of urine homeostasis	51241	COX16	OMIM:619355
HP:0003110	Abnormality of urine homeostasis	5105	PCK1	OMIM:261680
HP:0003110	Abnormality of urine homeostasis	1537	CYC1	OMIM:615453
HP:0003110	Abnormality of urine homeostasis	1374	CPT1A	OMIM:255120
HP:0003110	Abnormality of urine homeostasis	5019	OXCT1	OMIM:245050
HP:0003110	Abnormality of urine homeostasis	84693	MCEE	OMIM:251120
HP:0003110	Abnormality of urine homeostasis	128989	TANGO2	ORPHA:480864
HP:0003110	Abnormality of urine homeostasis	128989	TANGO2	OMIM:616878
HP:0003110	Abnormality of urine homeostasis	3767	KCNJ11	ORPHA:79644
HP:0003110	Abnormality of urine homeostasis	3767	KCNJ11	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	2639	GCDH	OMIM:231670
HP:0003110	Abnormality of urine homeostasis	79783	SUGCT	ORPHA:35706
HP:0003110	Abnormality of urine homeostasis	112812	FDX2	OMIM:251900
HP:0003110	Abnormality of urine homeostasis	6566	SLC16A1	OMIM:616095
HP:0003110	Abnormality of urine homeostasis	6833	ABCC8	OMIM:618857
HP:0003110	Abnormality of urine homeostasis	6833	ABCC8	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	2998	GYS2	ORPHA:2089
HP:0003110	Abnormality of urine homeostasis	56922	MCCC1	OMIM:210200
HP:0003110	Abnormality of urine homeostasis	326625	MMAB	OMIM:251110
HP:0003110	Abnormality of urine homeostasis	6774	STAT3	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	2645	GCK	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	3651	PDX1	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	3630	INS	ORPHA:99885
HP:0003110	Abnormality of urine homeostasis	3034	HAL	OMIM:235800
HP:0003110	Abnormality of urine homeostasis	3034	HAL	ORPHA:2157
HP:0003110	Abnormality of urine homeostasis	8462	KLF11	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	26060	APPL1	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	640	BLK	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	1056	CEL	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	4760	NEUROD1	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	5078	PAX4	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	6927	HNF1A	ORPHA:552
HP:0003110	Abnormality of urine homeostasis	6524	SLC5A2	ORPHA:69076
HP:0003110	Abnormality of urine homeostasis	6524	SLC5A2	OMIM:233100
HP:0003110	Abnormality of urine homeostasis	286053	NSMCE2	OMIM:617253
HP:0003110	Abnormality of urine homeostasis	6523	SLC5A1	OMIM:606824
HP:0003110	Abnormality of urine homeostasis	2627	GATA6	OMIM:600001
HP:0003110	Abnormality of urine homeostasis	57570	TRMT5	OMIM:616539
HP:0003110	Abnormality of urine homeostasis	387700	SLC16A12	OMIM:612018
HP:0003110	Abnormality of urine homeostasis	4000	LMNA	ORPHA:79474
HP:0003110	Abnormality of urine homeostasis	8792	TNFRSF11A	OMIM:602080
HP:0003110	Abnormality of urine homeostasis	8792	TNFRSF11A	OMIM:174810
HP:0003110	Abnormality of urine homeostasis	5352	PLOD2	OMIM:609220
HP:0003110	Abnormality of urine homeostasis	2731	GLDC	OMIM:605899
HP:0003110	Abnormality of urine homeostasis	275	AMT	OMIM:605899
HP:0003110	Abnormality of urine homeostasis	3712	IVD	OMIM:243500
HP:0003110	Abnormality of urine homeostasis	153201	SLC36A2	OMIM:242600
HP:0003110	Abnormality of urine homeostasis	153201	SLC36A2	ORPHA:42062
HP:0003110	Abnormality of urine homeostasis	153201	SLC36A2	OMIM:138500
HP:0003110	Abnormality of urine homeostasis	27247	NFU1	OMIM:605711
HP:0003110	Abnormality of urine homeostasis	348932	SLC6A18	ORPHA:42062
HP:0003110	Abnormality of urine homeostasis	54716	SLC6A20	ORPHA:42062
HP:0003110	Abnormality of urine homeostasis	340024	SLC6A19	ORPHA:42062
HP:0003110	Abnormality of urine homeostasis	34	ACADM	OMIM:201450
HP:0003110	Abnormality of urine homeostasis	5625	PRODH	OMIM:239500
HP:0003110	Abnormality of urine homeostasis	64087	MCCC2	OMIM:210210
HP:0003110	Abnormality of urine homeostasis	8659	ALDH4A1	OMIM:239510
HP:0003110	Abnormality of urine homeostasis	5095	PCCA	OMIM:606054
HP:0003110	Abnormality of urine homeostasis	5096	PCCB	OMIM:606054
HP:0003110	Abnormality of urine homeostasis	8074	FGF23	ORPHA:89937
HP:0003110	Abnormality of urine homeostasis	5745	PTH1R	OMIM:156400
HP:0003110	Abnormality of urine homeostasis	142680	SLC34A3	ORPHA:157215
HP:0003110	Abnormality of urine homeostasis	6569	SLC34A1	ORPHA:157215
HP:0003110	Abnormality of urine homeostasis	6569	SLC34A1	OMIM:612286
HP:0003110	Abnormality of urine homeostasis	229	ALDOB	OMIM:229600
HP:0003110	Abnormality of urine homeostasis	1758	DMP1	ORPHA:289176
HP:0003110	Abnormality of urine homeostasis	5167	ENPP1	ORPHA:289176
HP:0003110	Abnormality of urine homeostasis	5167	ENPP1	ORPHA:51608
HP:0003110	Abnormality of urine homeostasis	5167	ENPP1	OMIM:613312
HP:0003110	Abnormality of urine homeostasis	368	ABCC6	ORPHA:51608
HP:0003110	Abnormality of urine homeostasis	9368	NHERF1	OMIM:612287
HP:0003110	Abnormality of urine homeostasis	4221	MEN1	ORPHA:99879
HP:0003110	Abnormality of urine homeostasis	9247	GCM2	ORPHA:99879
HP:0003110	Abnormality of urine homeostasis	79577	CDC73	ORPHA:99879
HP:0003110	Abnormality of urine homeostasis	3845	KRAS	OMIM:163200
HP:0003110	Abnormality of urine homeostasis	4893	NRAS	OMIM:163200
HP:0003110	Abnormality of urine homeostasis	3265	HRAS	OMIM:163200
HP:0003110	Abnormality of urine homeostasis	2778	GNAS	ORPHA:562
HP:0003110	Abnormality of urine homeostasis	6514	SLC2A2	OMIM:227810
HP:0003110	Abnormality of urine homeostasis	6514	SLC2A2	ORPHA:2088
HP:0003110	Abnormality of urine homeostasis	51181	DCXR	OMIM:260800
HP:0003110	Abnormality of urine homeostasis	112817	HOGA1	ORPHA:93600
HP:0003110	Abnormality of urine homeostasis	84133	ZNRF3	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	7157	TP53	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	5573	PRKAR1A	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	1499	CTNNB1	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	1029	CDKN2A	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	7015	TERT	ORPHA:1501
HP:0003110	Abnormality of urine homeostasis	486	FXYD2	OMIM:154020
HP:0003110	Abnormality of urine homeostasis	9071	CLDN10	OMIM:617671
HP:0003110	Abnormality of urine homeostasis	9581	PREPL	OMIM:616224
HP:0003110	Abnormality of urine homeostasis	9581	PREPL	ORPHA:163690
HP:0003110	Abnormality of urine homeostasis	9581	PREPL	ORPHA:163693
HP:0003110	Abnormality of urine homeostasis	5495	PPM1B	ORPHA:163693
HP:0003110	Abnormality of urine homeostasis	79823	CAMKMT	ORPHA:163693
HP:0003110	Abnormality of urine homeostasis	1491	CTH	OMIM:219500
HP:0003110	Abnormality of urine homeostasis	1491	CTH	ORPHA:212
HP:0003110	Abnormality of urine homeostasis	359	AQP2	ORPHA:223
HP:0003110	Abnormality of urine homeostasis	9915	ARNT2	OMIM:615926
HP:0003110	Abnormality of urine homeostasis	4867	NPHP1	OMIM:256100
HP:0003110	Abnormality of urine homeostasis	189	AGXT	OMIM:259900
HP:0003110	Abnormality of urine homeostasis	189	AGXT	ORPHA:93598
HP:0003110	Abnormality of urine homeostasis	9380	GRHPR	OMIM:260000
HP:0003110	Abnormality of urine homeostasis	9380	GRHPR	ORPHA:93599
HP:0003110	Abnormality of urine homeostasis	6898	TAT	OMIM:276600
HP:0003110	Abnormality of urine homeostasis	10243	GPHN	OMIM:615501
HP:0003110	Abnormality of urine homeostasis	197322	ACSF3	ORPHA:289504
HP:0003110	Abnormality of urine homeostasis	55687	TRMU	OMIM:613070
HP:0003110	Abnormality of urine homeostasis	37	ACADVL	OMIM:201475
HP:0003110	Abnormality of urine homeostasis	55065	SLC52A1	OMIM:615026
HP:0003110	Abnormality of urine homeostasis	788	SLC25A20	OMIM:212138
HP:0003110	Abnormality of urine homeostasis	788	SLC25A20	ORPHA:159
HP:0003110	Abnormality of urine homeostasis	28976	ACAD9	OMIM:611126
HP:0003110	Abnormality of urine homeostasis	28976	ACAD9	ORPHA:99901
HP:0003110	Abnormality of urine homeostasis	5195	PEX14	OMIM:614887
HP:0003110	Abnormality of urine homeostasis	27034	ACAD8	ORPHA:79159
HP:0003110	Abnormality of urine homeostasis	6584	SLC22A5	OMIM:212140
HP:0003110	Abnormality of urine homeostasis	790	CAD	OMIM:616457
HP:0003110	Abnormality of urine homeostasis	383	ARG1	OMIM:207800
HP:0003110	Abnormality of urine homeostasis	445	ASS1	OMIM:215700
HP:0003110	Abnormality of urine homeostasis	498	ATP5F1A	OMIM:620358
HP:0003110	Abnormality of urine homeostasis	10166	SLC25A15	ORPHA:415
HP:0003110	Abnormality of urine homeostasis	23474	ETHE1	ORPHA:51188
HP:0003110	Abnormality of urine homeostasis	23474	ETHE1	OMIM:602473
HP:0003110	Abnormality of urine homeostasis	3329	HSPD1	OMIM:612233
HP:0003110	Abnormality of urine homeostasis	2108	ETFA	OMIM:231680
HP:0003110	Abnormality of urine homeostasis	2109	ETFB	OMIM:231680
HP:0003110	Abnormality of urine homeostasis	2110	ETFDH	OMIM:231680
HP:0003110	Abnormality of urine homeostasis	8802	SUCLG1	ORPHA:17
HP:0003110	Abnormality of urine homeostasis	35	ACADS	OMIM:201470
HP:0003110	Abnormality of urine homeostasis	35	ACADS	ORPHA:26792
HP:0003110	Abnormality of urine homeostasis	3000	GUCY2D	OMIM:204000
HP:0003110	Abnormality of urine homeostasis	133686	NADK2	OMIM:616034
HP:0003110	Abnormality of urine homeostasis	80207	OPA3	OMIM:258501
HP:0003110	Abnormality of urine homeostasis	131118	DNAJC19	OMIM:610198
HP:0003110	Abnormality of urine homeostasis	27429	HTRA2	OMIM:617248
HP:0003110	Abnormality of urine homeostasis	92609	TIMM50	OMIM:617698
HP:0003110	Abnormality of urine homeostasis	6530	SLC6A2	OMIM:604715
HP:0003110	Abnormality of urine homeostasis	435	ASL	ORPHA:23
HP:0003110	Abnormality of urine homeostasis	435	ASL	OMIM:207900
HP:0003110	Abnormality of urine homeostasis	1497	CTNS	OMIM:219800
HP:0003110	Abnormality of urine homeostasis	1497	CTNS	ORPHA:411629
HP:0003110	Abnormality of urine homeostasis	1497	CTNS	ORPHA:411634
HP:0003110	Abnormality of urine homeostasis	6505	SLC1A1	OMIM:222730
HP:0003110	Abnormality of urine homeostasis	4952	OCRL	OMIM:300555
HP:0003110	Abnormality of urine homeostasis	4952	OCRL	OMIM:309000
HP:0003110	Abnormality of urine homeostasis	4952	OCRL	ORPHA:534
HP:0003110	Abnormality of urine homeostasis	51095	TRNT1	OMIM:616084
HP:0003110	Abnormality of urine homeostasis	4574	MT-TS1	OMIM:220110
HP:0003110	Abnormality of urine homeostasis	4570	MT-TN	OMIM:220110
HP:0003110	Abnormality of urine homeostasis	6834	SURF1	OMIM:220110
HP:0003110	Abnormality of urine homeostasis	54914	FOCAD	OMIM:619991
HP:0003110	Abnormality of urine homeostasis	2592	GALT	OMIM:230400
HP:0003110	Abnormality of urine homeostasis	84334	COA8	ORPHA:436271
HP:0003110	Abnormality of urine homeostasis	10667	FARS2	OMIM:614946
HP:0003110	Abnormality of urine homeostasis	1184	CLCN5	OMIM:308990
HP:0003110	Abnormality of urine homeostasis	1184	CLCN5	OMIM:300009
HP:0003110	Abnormality of urine homeostasis	5830	PEX5	OMIM:214110
HP:0003110	Abnormality of urine homeostasis	1373	CPS1	ORPHA:147
HP:0003110	Abnormality of urine homeostasis	5009	OTC	ORPHA:664
HP:0003110	Abnormality of urine homeostasis	7372	UMPS	ORPHA:30
HP:0003110	Abnormality of urine homeostasis	617	BCS1L	OMIM:603358
HP:0003110	Abnormality of urine homeostasis	617	BCS1L	OMIM:124000
HP:0003110	Abnormality of urine homeostasis	4141	MARS1	OMIM:615486
HP:0003110	Abnormality of urine homeostasis	2628	GATM	OMIM:134600
HP:0003110	Abnormality of urine homeostasis	137682	NDUFAF6	OMIM:618913
HP:0003110	Abnormality of urine homeostasis	55503	TRPV6	ORPHA:417
HP:0003110	Abnormality of urine homeostasis	846	CASR	ORPHA:417
HP:0003110	Abnormality of urine homeostasis	846	CASR	OMIM:239200
HP:0003110	Abnormality of urine homeostasis	2729	GCLC	ORPHA:33574
HP:0003110	Abnormality of urine homeostasis	4758	NEU1	ORPHA:812
HP:0003110	Abnormality of urine homeostasis	1962	EHHADH	OMIM:615605
HP:0003110	Abnormality of urine homeostasis	540	ATP7B	OMIM:277900
HP:0003110	Abnormality of urine homeostasis	5189	PEX1	OMIM:214100
HP:0003110	Abnormality of urine homeostasis	4942	OAT	ORPHA:414
HP:0003110	Abnormality of urine homeostasis	2271	FH	OMIM:606812
HP:0003110	Abnormality of urine homeostasis	10559	SLC35A1	OMIM:603585
HP:0003110	Abnormality of urine homeostasis	100131801	PET100	OMIM:619055
HP:0003110	Abnormality of urine homeostasis	10841	FTCD	OMIM:229100
HP:0003110	Abnormality of urine homeostasis	10560	SLC19A2	OMIM:249270
HP:0003110	Abnormality of urine homeostasis	7084	TK2	OMIM:609560
HP:0003110	Abnormality of urine homeostasis	3172	HNF4A	OMIM:616026
HP:0003110	Abnormality of urine homeostasis	50628	GEMIN4	OMIM:617913
HP:0003110	Abnormality of urine homeostasis	8942	KYNU	OMIM:236800
HP:0003110	Abnormality of urine homeostasis	4668	NAGA	OMIM:609242
HP:0003110	Abnormality of urine homeostasis	91647	ATPAF2	OMIM:604273
HP:0003110	Abnormality of urine homeostasis	3081	HGD	ORPHA:56
HP:0003110	Abnormality of urine homeostasis	9056	SLC7A7	OMIM:222700
HP:0003110	Abnormality of urine homeostasis	26276	VPS33B	OMIM:208085
HP:0003110	Abnormality of urine homeostasis	8803	SUCLA2	OMIM:612073
HP:0003110	Abnormality of urine homeostasis	8803	SUCLA2	ORPHA:1933
HP:0003110	Abnormality of urine homeostasis	132158	GLYCTK	OMIM:220120
HP:0003110	Abnormality of urine homeostasis	9054	NFS1	OMIM:619386
HP:0003110	Abnormality of urine homeostasis	50484	RRM2B	OMIM:612075
HP:0003110	Abnormality of urine homeostasis	63894	VIPAS39	OMIM:613404
HP:0003110	Abnormality of urine homeostasis	26275	HIBCH	OMIM:250620
HP:0003110	Abnormality of urine homeostasis	2068	ERCC2	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	7507	XPA	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	2071	ERCC3	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	7508	XPC	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	1643	DDB2	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	2072	ERCC4	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	2073	ERCC5	ORPHA:910
HP:0003110	Abnormality of urine homeostasis	2582	GALE	OMIM:230350
HP:0003110	Abnormality of urine homeostasis	11005	SPINK5	ORPHA:634
HP:0003110	Abnormality of urine homeostasis	4337	MOCS1	OMIM:252150
HP:0003110	Abnormality of urine homeostasis	6821	SUOX	OMIM:272300
HP:0003110	Abnormality of urine homeostasis	6999	TDO2	OMIM:600627
HP:0003110	Abnormality of urine homeostasis	5144	PDE4D	ORPHA:280651
HP:0003110	Abnormality of urine homeostasis	149775	GNAS-AS1	OMIM:603233
HP:0003110	Abnormality of urine homeostasis	8675	STX16	OMIM:603233
HP:0003110	Abnormality of urine homeostasis	8675	STX16	ORPHA:94089
HP:0003110	Abnormality of urine homeostasis	1175	AP2S1	OMIM:600740
HP:0003110	Abnormality of urine homeostasis	11136	SLC7A9	OMIM:220100
HP:0003110	Abnormality of urine homeostasis	6519	SLC3A1	OMIM:220100
HP:0003110	Abnormality of urine homeostasis	513	ATP5F1D	OMIM:618120
HP:0003110	Abnormality of urine homeostasis	125988	MICOS13	OMIM:618329
HP:0003110	Abnormality of urine homeostasis	125988	MICOS13	ORPHA:67047
HP:0003110	Abnormality of urine homeostasis	81570	CLPB	OMIM:619835
HP:0003110	Abnormality of urine homeostasis	81570	CLPB	OMIM:619813
HP:0003110	Abnormality of urine homeostasis	81570	CLPB	ORPHA:445038
HP:0003110	Abnormality of urine homeostasis	81570	CLPB	OMIM:616271
HP:0003110	Abnormality of urine homeostasis	549	AUH	OMIM:250950
HP:0003110	Abnormality of urine homeostasis	549	AUH	ORPHA:67046
HP:0003110	Abnormality of urine homeostasis	55750	AGK	OMIM:212350
HP:0003110	Abnormality of urine homeostasis	55210	ATAD3A	ORPHA:496790
HP:0003110	Abnormality of urine homeostasis	54968	TMEM70	OMIM:614052
HP:0003110	Abnormality of urine homeostasis	54968	TMEM70	ORPHA:1194
HP:0003110	Abnormality of urine homeostasis	514	ATP5F1E	OMIM:614053
HP:0003110	Abnormality of urine homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0003110	Abnormality of urine homeostasis	84947	SERAC1	OMIM:614739
HP:0003110	Abnormality of urine homeostasis	2990	GUSB	OMIM:253220
HP:0003110	Abnormality of urine homeostasis	3425	IDUA	OMIM:607014
HP:0003110	Abnormality of urine homeostasis	3423	IDS	OMIM:309900
HP:0003110	Abnormality of urine homeostasis	7019	TFAM	OMIM:617156
HP:0003110	Abnormality of urine homeostasis	2328	FMO3	OMIM:602079
HP:0003110	Abnormality of urine homeostasis	2328	FMO3	ORPHA:468726
HP:0003110	Abnormality of urine homeostasis	8573	CASK	OMIM:300908
HP:0003110	Abnormality of urine homeostasis	2539	G6PD	OMIM:300908
HP:0003110	Abnormality of urine homeostasis	51251	NT5C3A	OMIM:266120
HP:0003110	Abnormality of urine homeostasis	9780	PIEZO1	OMIM:194380
HP:0003110	Abnormality of urine homeostasis	100303755	PET117	OMIM:619063
HP:0003110	Abnormality of urine homeostasis	55863	TMEM126B	OMIM:618250
HP:0003110	Abnormality of urine homeostasis	4536	MT-ND2	ORPHA:255210
HP:0003110	Abnormality of urine homeostasis	4537	MT-ND3	ORPHA:255210
HP:0003110	Abnormality of urine homeostasis	4577	MT-TV	ORPHA:255210
HP:0003110	Abnormality of urine homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0003110	Abnormality of urine homeostasis	4716	NDUFB10	OMIM:619003
HP:0003110	Abnormality of urine homeostasis	197257	LDHD	OMIM:245450
HP:0003110	Abnormality of urine homeostasis	4704	NDUFA9	OMIM:618247
HP:0003110	Abnormality of urine homeostasis	57128	LYRM4	OMIM:615595
HP:0003110	Abnormality of urine homeostasis	4724	NDUFS4	OMIM:252010
HP:0003110	Abnormality of urine homeostasis	89874	SLC25A21	OMIM:618811
HP:0003110	Abnormality of urine homeostasis	54704	PDP1	ORPHA:79246
HP:0003110	Abnormality of urine homeostasis	966	CD59	OMIM:612300
HP:0003110	Abnormality of urine homeostasis	55764	IFT122	OMIM:218330
HP:0003110	Abnormality of urine homeostasis	285362	SUMF1	ORPHA:585
HP:0003110	Abnormality of urine homeostasis	285362	SUMF1	OMIM:272200
HP:0003110	Abnormality of urine homeostasis	84572	GNPTG	OMIM:252605
HP:0003110	Abnormality of urine homeostasis	6023	RMRP	ORPHA:175
HP:0003110	Abnormality of urine homeostasis	59341	TRPV4	OMIM:184095
HP:0003110	Abnormality of urine homeostasis	79158	GNPTAB	OMIM:252600
HP:0003110	Abnormality of urine homeostasis	79158	GNPTAB	OMIM:252500
HP:0003110	Abnormality of urine homeostasis	153642	ARSK	OMIM:619698
HP:0003110	Abnormality of urine homeostasis	411	ARSB	OMIM:253200
HP:0003110	Abnormality of urine homeostasis	5213	PFKM	OMIM:232800
HP:0003110	Abnormality of urine homeostasis	729920	CRPPA	ORPHA:352479
HP:0003110	Abnormality of urine homeostasis	5255	PHKA1	OMIM:300559
HP:0003110	Abnormality of urine homeostasis	79147	FKRP	OMIM:607155
HP:0003110	Abnormality of urine homeostasis	57393	CLTRN	ORPHA:2116
HP:0003110	Abnormality of urine homeostasis	4125	MAN2B1	ORPHA:309282
HP:0003110	Abnormality of urine homeostasis	4125	MAN2B1	ORPHA:309288
HP:0003110	Abnormality of urine homeostasis	2548	GAA	ORPHA:308552
HP:0003110	Abnormality of urine homeostasis	57231	SNX14	OMIM:616354
HP:0003110	Abnormality of urine homeostasis	57231	SNX14	ORPHA:397709
HP:0003110	Abnormality of urine homeostasis	28234	SLCO1B3	ORPHA:3111
HP:0003110	Abnormality of urine homeostasis	10599	SLCO1B1	ORPHA:3111
HP:0003110	Abnormality of urine homeostasis	1757	SARDH	ORPHA:3129
HP:0003110	Abnormality of urine homeostasis	7498	XDH	OMIM:278300
HP:0003110	Abnormality of urine homeostasis	55034	MOCOS	OMIM:603592
HP:0003110	Abnormality of urine homeostasis	4860	PNP	ORPHA:760
HP:0003110	Abnormality of urine homeostasis	4338	MOCS2	OMIM:252160
HP:0003110	Abnormality of urine homeostasis	595	CCND1	ORPHA:892
HP:0003110	Abnormality of urine homeostasis	4613	MYCN	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	7153	TOP2A	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	238	ALK	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	389421	LIN28B	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	4004	LMO1	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	57531	HACE1	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	8929	PHOX2B	ORPHA:635
HP:0003110	Abnormality of urine homeostasis	6571	SLC18A2	OMIM:618049
HP:0003110	Abnormality of urine homeostasis	1621	DBH	ORPHA:230
HP:0003110	Abnormality of urine homeostasis	2584	GALK1	OMIM:230200
HP:0003110	Abnormality of urine homeostasis	9652	SKIC3	OMIM:222470
HP:0003110	Abnormality of urine homeostasis	4126	MANBA	OMIM:248510
HP:0003110	Abnormality of urine homeostasis	2517	FUCA1	OMIM:230000
HP:0003110	Abnormality of urine homeostasis	175	AGA	OMIM:208400
HP:0003110	Abnormality of urine homeostasis	175	AGA	ORPHA:93
HP:0003110	Abnormality of urine homeostasis	1280	COL2A1	ORPHA:485
HP:0003110	Abnormality of urine homeostasis	2720	GLB1	OMIM:253010
HP:0003110	Abnormality of urine homeostasis	2588	GALNS	OMIM:253000
HP:0003110	Abnormality of urine homeostasis	55768	NGLY1	OMIM:615273
HP:0003110	Abnormality of urine homeostasis	5428	POLG	OMIM:203700
HP:0003110	Abnormality of urine homeostasis	51116	MRPS2	OMIM:617950
HP:0003110	Abnormality of urine homeostasis	1244	ABCC2	ORPHA:234
HP:0003110	Abnormality of urine homeostasis	119559	SFXN4	OMIM:615578
HP:0003110	Abnormality of urine homeostasis	4329	ALDH6A1	OMIM:614105
HP:0003110	Abnormality of urine homeostasis	6948	TCN2	OMIM:275350
HP:0003110	Abnormality of urine homeostasis	6948	TCN2	ORPHA:859
HP:0003110	Abnormality of urine homeostasis	4594	MMUT	OMIM:251000
HP:0003110	Abnormality of urine homeostasis	51293	CD320	OMIM:613646
HP:0003110	Abnormality of urine homeostasis	1806	DPYD	OMIM:274270
HP:0003110	Abnormality of urine homeostasis	1806	DPYD	ORPHA:1675
HP:0003110	Abnormality of urine homeostasis	1807	DPYS	OMIM:222748
HP:0003110	Abnormality of urine homeostasis	5498	PPOX	OMIM:176200
HP:0003110	Abnormality of urine homeostasis	5498	PPOX	ORPHA:79473
HP:0003110	Abnormality of urine homeostasis	3077	HFE	OMIM:176200
HP:0003110	Abnormality of urine homeostasis	131669	UROC1	OMIM:276880
HP:0003110	Abnormality of urine homeostasis	131669	UROC1	ORPHA:210128
HP:0003110	Abnormality of urine homeostasis	728294	D2HGDH	OMIM:600721
HP:0003110	Abnormality of urine homeostasis	3418	IDH2	OMIM:613657
HP:0003110	Abnormality of urine homeostasis	3417	IDH1	ORPHA:99646
HP:0003110	Abnormality of urine homeostasis	866	SERPINA6	OMIM:611489
HP:0003110	Abnormality of urine homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0003110	Abnormality of urine homeostasis	2556	GABRA3	ORPHA:79102
HP:0003110	Abnormality of urine homeostasis	54757	FAM20A	ORPHA:1031
HP:0003110	Abnormality of urine homeostasis	4967	OGDH	ORPHA:31
HP:0003110	Abnormality of urine homeostasis	9488	PIGB	OMIM:618580
HP:0003110	Abnormality of urine homeostasis	2746	GLUD1	ORPHA:35878
HP:0003110	Abnormality of urine homeostasis	57465	TBC1D24	OMIM:220500
HP:0003110	Abnormality of urine homeostasis	57465	TBC1D24	ORPHA:79500
HP:0003110	Abnormality of urine homeostasis	27010	TPK1	OMIM:614458
HP:0003110	Abnormality of urine homeostasis	1738	DLD	ORPHA:2394
HP:0003110	Abnormality of urine homeostasis	526	ATP6V1B2	ORPHA:79500
HP:0003110	Abnormality of urine homeostasis	9493	KIF23	OMIM:105600
HP:0003110	Abnormality of urine homeostasis	975	CD81	OMIM:613496
HP:0003110	Abnormality of urine homeostasis	2157	F8	ORPHA:169802
HP:0003110	Abnormality of urine homeostasis	3674	ITGA2B	ORPHA:849
HP:0003110	Abnormality of urine homeostasis	3690	ITGB3	ORPHA:849
HP:0003110	Abnormality of urine homeostasis	2811	GP1BA	ORPHA:274
HP:0003110	Abnormality of urine homeostasis	2812	GP1BB	ORPHA:274
HP:0003110	Abnormality of urine homeostasis	2815	GP9	ORPHA:274
HP:0003110	Abnormality of urine homeostasis	3251	HPRT1	ORPHA:79233
HP:0003110	Abnormality of urine homeostasis	51726	DNAJB11	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	23193	GANAB	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	5310	PKD1	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	5311	PKD2	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	29880	ALG5	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	9742	IFT140	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	79796	ALG9	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	80114	BICC1	ORPHA:730
HP:0003110	Abnormality of urine homeostasis	51473	DCDC2	ORPHA:84081
HP:0003110	Abnormality of urine homeostasis	91147	TMEM67	ORPHA:84081
HP:0003110	Abnormality of urine homeostasis	1650	DDOST	ORPHA:300536
HP:0003110	Abnormality of urine homeostasis	375056	MIA3	OMIM:619269
HP:0003110	Abnormality of urine homeostasis	51124	IER3IP1	OMIM:614231
HP:0003110	Abnormality of urine homeostasis	55610	VPS50	OMIM:619685
HP:0003110	Abnormality of urine homeostasis	3735	KARS1	OMIM:619147
HP:0003110	Abnormality of urine homeostasis	1583	CYP11A1	ORPHA:289548
HP:0003110	Abnormality of urine homeostasis	1583	CYP11A1	ORPHA:168558
HP:0003110	Abnormality of urine homeostasis	56246	MRAP	ORPHA:361
HP:0003110	Abnormality of urine homeostasis	6770	STAR	ORPHA:361
HP:0003110	Abnormality of urine homeostasis	4158	MC2R	ORPHA:361
HP:0003110	Abnormality of urine homeostasis	23530	NNT	ORPHA:361
HP:0003110	Abnormality of urine homeostasis	10587	TXNRD2	ORPHA:361
HP:0003110	Abnormality of urine homeostasis	554	AVPR2	OMIM:300539
HP:0003110	Abnormality of urine homeostasis	3291	HSD11B2	ORPHA:320
HP:0003110	Abnormality of urine homeostasis	3766	KCNJ10	ORPHA:199343
HP:0003110	Abnormality of urine homeostasis	3766	KCNJ10	OMIM:612780
HP:0003110	Abnormality of urine homeostasis	1585	CYP11B2	ORPHA:556030
HP:0003110	Abnormality of urine homeostasis	10861	SLC26A1	OMIM:620372
HP:0003110	Abnormality of urine homeostasis	5631	PRPS1	ORPHA:411543
HP:0003110	Abnormality of urine homeostasis	5631	PRPS1	ORPHA:411536
HP:0003110	Abnormality of urine homeostasis	7381	UQCRB	OMIM:615158
HP:0003110	Abnormality of urine homeostasis	23729	SHPK	OMIM:617213
HP:0003110	Abnormality of urine homeostasis	51601	LIPT1	OMIM:616299
HP:0003110	Abnormality of urine homeostasis	85007	PHYKPL	OMIM:615011
HP:0003110	Abnormality of urine homeostasis	29958	DMGDH	OMIM:605850
HP:0003110	Abnormality of urine homeostasis	3795	KHK	ORPHA:2056
HP:0003110	Abnormality of urine homeostasis	7390	UROS	OMIM:263700
HP:0003110	Abnormality of urine homeostasis	644	BLVRA	OMIM:614156
HP:0003110	Abnormality of urine homeostasis	4882	NPR2	OMIM:615923
HP:0003110	Abnormality of urine homeostasis	443	ASPA	OMIM:271900
HP:0003110	Abnormality of urine homeostasis	64849	SLC13A3	OMIM:618384
HP:0003110	Abnormality of urine homeostasis	10157	AASS	ORPHA:3124
HP:0003110	Abnormality of urine homeostasis	64902	AGXT2	OMIM:210100
HP:0003110	Abnormality of urine homeostasis	200205	IBA57	OMIM:615330
HP:0003110	Abnormality of urine homeostasis	9154	SLC28A1	OMIM:618477
HP:0003110	Abnormality of urine homeostasis	4598	MVK	OMIM:260920
HP:0003110	Abnormality of urine homeostasis	4598	MVK	OMIM:610377
HP:0003110	Abnormality of urine homeostasis	6341	SCO1	OMIM:619048
HP:0003110	Abnormality of urine homeostasis	5184	PEPD	OMIM:170100
HP:0003110	Abnormality of urine homeostasis	763	CA5A	OMIM:615751
HP:0003110	Abnormality of urine homeostasis	23417	MLYCD	OMIM:248360
HP:0003110	Abnormality of urine homeostasis	36	ACADSB	OMIM:610006
HP:0003110	Abnormality of urine homeostasis	5092	PCBD1	OMIM:264070
HP:0003110	Abnormality of urine homeostasis	3141	HLCS	OMIM:253270
HP:0003110	Abnormality of urine homeostasis	1147	CHUK	OMIM:613630
HP:0003110	Abnormality of urine homeostasis	5351	PLOD1	OMIM:225400
HP:0003110	Abnormality of urine homeostasis	6578	SLCO2A1	OMIM:167100
HP:0003110	Abnormality of urine homeostasis	3242	HPD	OMIM:140350
HP:0003110	Abnormality of urine homeostasis	5053	PAH	OMIM:261600
HP:0003110	Abnormality of urine homeostasis	55526	DHTKD1	OMIM:204750
HP:0003110	Abnormality of urine homeostasis	471	ATIC	OMIM:608688
HP:0003110	Abnormality of urine homeostasis	2678	GGT1	OMIM:231950
HP:0003110	Abnormality of urine homeostasis	166785	MMAA	OMIM:251100
HP:0003110	Abnormality of urine homeostasis	6576	SLC25A1	OMIM:615182
HP:0003110	Abnormality of urine homeostasis	79944	L2HGDH	OMIM:236792
HP:0003110	Abnormality of urine homeostasis	10165	SLC25A13	ORPHA:247598
HP:0003110	Abnormality of urine homeostasis	2203	FBP1	OMIM:229700
HP:0003110	Abnormality of urine homeostasis	2203	FBP1	ORPHA:348
HP:0003110	Abnormality of urine homeostasis	2710	GK	OMIM:307030
HP:0003110	Abnormality of urine homeostasis	7389	UROD	ORPHA:95159
HP:0003110	Abnormality of urine homeostasis	286410	ATP11C	OMIM:301015
HP:0003110	Abnormality of urine homeostasis	1371	CPOX	ORPHA:79273
HP:0003110	Abnormality of urine homeostasis	3145	HMBS	ORPHA:79276
HP:0003110	Abnormality of urine homeostasis	79989	IFT56	OMIM:619534
HP:0003110	Abnormality of urine homeostasis	6718	AKR1D1	ORPHA:79303
HP:0003110	Abnormality of urine homeostasis	210	ALAD	ORPHA:100924
HP:0003110	Abnormality of urine homeostasis	2623	GATA1	ORPHA:79277
HP:0003110	Abnormality of urine homeostasis	1629	DBT	OMIM:248600
HP:0003110	Abnormality of urine homeostasis	593	BCKDHA	OMIM:248600
HP:0003110	Abnormality of urine homeostasis	594	BCKDHB	OMIM:248600
HP:0003110	Abnormality of urine homeostasis	3553	IL1B	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	4595	MUTYH	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	3557	IL1RN	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	843	CASP10	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	3659	IRF1	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	2064	ERBB2	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	5290	PIK3CA	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	1316	KLF6	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	324	APC	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	2263	FGFR2	OMIM:613659
HP:0003110	Abnormality of urine homeostasis	3875	KRT18	OMIM:215600
HP:0003110	Abnormality of urine homeostasis	6794	STK11	OMIM:260350
HP:0003110	Abnormality of urine homeostasis	4089	SMAD4	OMIM:260350
HP:0003110	Abnormality of urine homeostasis	7086	TKT	ORPHA:488618
HP:0003110	Abnormality of urine homeostasis	22934	RPIA	OMIM:608611
HP:0003110	Abnormality of urine homeostasis	26873	OPLAH	OMIM:260005
HP:0003110	Abnormality of urine homeostasis	2937	GSS	OMIM:266130
HP:0003110	Abnormality of urine homeostasis	2937	GSS	OMIM:231900
HP:0003110	Abnormality of urine homeostasis	10020	GNE	OMIM:269921
HP:0003110	Abnormality of urine homeostasis	3954	LETM1	OMIM:620089
HP:0003110	Abnormality of urine homeostasis	3028	HSD17B10	ORPHA:391457
HP:0003110	Abnormality of urine homeostasis	3028	HSD17B10	ORPHA:391428
HP:0003110	Abnormality of urine homeostasis	7915	ALDH5A1	OMIM:271980
HP:0011867	Abnormal iliac wing morphology	54808	DYM	OMIM:223800
HP:0011867	Abnormal iliac wing morphology	2074	ERCC6	OMIM:133540
HP:0011867	Abnormal iliac wing morphology	2121	EVC	OMIM:225500
HP:0011867	Abnormal iliac wing morphology	132884	EVC2	OMIM:225500
HP:0011867	Abnormal iliac wing morphology	7476	WNT7A	OMIM:228930
HP:0011867	Abnormal iliac wing morphology	579	NKX3-2	OMIM:613330
HP:0011867	Abnormal iliac wing morphology	2335	FN1	ORPHA:93315
HP:0011867	Abnormal iliac wing morphology	5116	PCNT	ORPHA:2637
HP:0011867	Abnormal iliac wing morphology	5116	PCNT	OMIM:210720
HP:0011867	Abnormal iliac wing morphology	10013	HDAC6	ORPHA:163966
HP:0011867	Abnormal iliac wing morphology	10013	HDAC6	OMIM:300863
HP:0011867	Abnormal iliac wing morphology	2146	EZH2	OMIM:277590
HP:0011867	Abnormal iliac wing morphology	147372	CCBE1	OMIM:235510
HP:0011867	Abnormal iliac wing morphology	8726	EED	OMIM:617561
HP:0011867	Abnormal iliac wing morphology	860	RUNX2	OMIM:119600
HP:0011867	Abnormal iliac wing morphology	6913	TBX15	OMIM:260660
HP:0011867	Abnormal iliac wing morphology	26175	LYSET	OMIM:619345
HP:0011867	Abnormal iliac wing morphology	2623	GATA1	OMIM:190685
HP:0011867	Abnormal iliac wing morphology	54101	RIPK4	OMIM:263650
HP:0011867	Abnormal iliac wing morphology	6399	TRAPPC2	OMIM:313400
HP:0011867	Abnormal iliac wing morphology	388015	RTL1	ORPHA:96334
HP:0011867	Abnormal iliac wing morphology	8788	DLK1	ORPHA:96334
HP:0011867	Abnormal iliac wing morphology	55384	MEG3	ORPHA:96334
HP:0011867	Abnormal iliac wing morphology	1161	ERCC8	OMIM:216400
HP:0011867	Abnormal iliac wing morphology	3911	LAMA5	OMIM:620076
HP:0011867	Abnormal iliac wing morphology	6197	RPS6KA3	OMIM:303600
HP:0011867	Abnormal iliac wing morphology	6197	RPS6KA3	ORPHA:192
HP:0011867	Abnormal iliac wing morphology	26137	ZBTB20	OMIM:259050
HP:0011867	Abnormal iliac wing morphology	26137	ZBTB20	ORPHA:3042
HP:0011867	Abnormal iliac wing morphology	9871	SEC24D	OMIM:616294
HP:0011867	Abnormal iliac wing morphology	1513	CTSK	OMIM:265800
HP:0011867	Abnormal iliac wing morphology	9451	EIF2AK3	OMIM:226980
HP:0011867	Abnormal iliac wing morphology	1280	COL2A1	OMIM:609162
HP:0011867	Abnormal iliac wing morphology	54187	NANS	OMIM:610442
HP:0011867	Abnormal iliac wing morphology	6662	SOX9	OMIM:114290
HP:0011867	Abnormal iliac wing morphology	5830	PEX5	OMIM:616716
HP:0011867	Abnormal iliac wing morphology	4921	DDR2	OMIM:271665
HP:0011867	Abnormal iliac wing morphology	4322	MMP13	OMIM:602111
HP:0011867	Abnormal iliac wing morphology	59341	TRPV4	OMIM:184252
HP:0011867	Abnormal iliac wing morphology	59341	TRPV4	ORPHA:93314
HP:0011867	Abnormal iliac wing morphology	59341	TRPV4	OMIM:156530
HP:0011867	Abnormal iliac wing morphology	84572	GNPTG	OMIM:252605
HP:0011867	Abnormal iliac wing morphology	9131	AIFM1	OMIM:300232
HP:0011867	Abnormal iliac wing morphology	5251	PHEX	ORPHA:89936
HP:0011867	Abnormal iliac wing morphology	3549	IHH	ORPHA:63446
HP:0011867	Abnormal iliac wing morphology	3549	IHH	OMIM:607778
HP:0011867	Abnormal iliac wing morphology	1387	CREBBP	OMIM:180849
HP:0011867	Abnormal iliac wing morphology	2033	EP300	OMIM:180849
HP:0011867	Abnormal iliac wing morphology	411	ARSB	OMIM:253200
HP:0011867	Abnormal iliac wing morphology	633	BGN	OMIM:300106
HP:0011867	Abnormal iliac wing morphology	9321	TRIP11	OMIM:184260
HP:0011867	Abnormal iliac wing morphology	51715	RAB23	OMIM:201000
HP:0011867	Abnormal iliac wing morphology	65082	VPS33A	OMIM:617303
HP:0011867	Abnormal iliac wing morphology	2719	GPC3	OMIM:312870
HP:0011867	Abnormal iliac wing morphology	2239	GPC4	OMIM:312870
HP:0011867	Abnormal iliac wing morphology	3425	IDUA	OMIM:607014
HP:0011867	Abnormal iliac wing morphology	79158	GNPTAB	OMIM:252500
HP:0011867	Abnormal iliac wing morphology	2316	FLNA	ORPHA:90652
HP:0011867	Abnormal iliac wing morphology	2879	GPX4	OMIM:250220
HP:0011867	Abnormal iliac wing morphology	2720	GLB1	OMIM:253010
HP:0011867	Abnormal iliac wing morphology	2588	GALNS	OMIM:253000
HP:0011867	Abnormal iliac wing morphology	4148	MATN3	OMIM:608728
HP:0011867	Abnormal iliac wing morphology	5745	PTH1R	ORPHA:79106
HP:0011867	Abnormal iliac wing morphology	10484	SEC23A	OMIM:607812
HP:0011867	Abnormal iliac wing morphology	10484	SEC23A	ORPHA:50814
HP:0011867	Abnormal iliac wing morphology	139285	AMER1	ORPHA:2780
HP:0011867	Abnormal iliac wing morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0011867	Abnormal iliac wing morphology	538	ATP7A	ORPHA:198
HP:0011867	Abnormal iliac wing morphology	4089	SMAD4	ORPHA:2588
HP:0011867	Abnormal iliac wing morphology	126792	B3GALT6	OMIM:271640
HP:0011867	Abnormal iliac wing morphology	2261	FGFR3	ORPHA:15
HP:0011867	Abnormal iliac wing morphology	1302	COL11A2	ORPHA:1427
HP:0011867	Abnormal iliac wing morphology	81839	VANGL1	ORPHA:3027
HP:0011867	Abnormal iliac wing morphology	80199	FUZ	ORPHA:3027
HP:0011867	Abnormal iliac wing morphology	9842	PLEKHM1	OMIM:611497
HP:0011869	Abnormal platelet function	861	RUNX1	OMIM:601399
HP:0011869	Abnormal platelet function	4247	MGAT2	ORPHA:79329
HP:0011869	Abnormal platelet function	7450	VWF	OMIM:193400
HP:0011869	Abnormal platelet function	7450	VWF	OMIM:277480
HP:0011869	Abnormal platelet function	84343	HPS3	OMIM:614072
HP:0011869	Abnormal platelet function	388552	BLOC1S3	OMIM:614077
HP:0011869	Abnormal platelet function	5321	PLA2G4A	OMIM:618372
HP:0011869	Abnormal platelet function	3758	KCNJ1	OMIM:241200
HP:0011869	Abnormal platelet function	2313	FLI1	OMIM:617443
HP:0011869	Abnormal platelet function	2048	EPHB2	OMIM:618462
HP:0011869	Abnormal platelet function	84062	DTNBP1	OMIM:614076
HP:0011869	Abnormal platelet function	81027	TUBB1	OMIM:613112
HP:0011869	Abnormal platelet function	1729	DIAPH1	OMIM:124900
HP:0011869	Abnormal platelet function	64241	ABCG8	OMIM:210250
HP:0011869	Abnormal platelet function	11234	HPS5	OMIM:614074
HP:0011869	Abnormal platelet function	79803	HPS6	OMIM:614075
HP:0011869	Abnormal platelet function	64805	P2RY12	OMIM:609821
HP:0011869	Abnormal platelet function	8546	AP3B1	OMIM:608233
HP:0011869	Abnormal platelet function	5328	PLAU	OMIM:601709
HP:0011869	Abnormal platelet function	4627	MYH9	OMIM:155100
HP:0011869	Abnormal platelet function	10235	RASGRP2	OMIM:615888
HP:0011869	Abnormal platelet function	63915	BLOC1S5	OMIM:619172
HP:0011869	Abnormal platelet function	10019	SH2B3	OMIM:187950
HP:0011869	Abnormal platelet function	811	CALR	OMIM:187950
HP:0011869	Abnormal platelet function	7066	THPO	OMIM:187950
HP:0011869	Abnormal platelet function	493856	CISD2	OMIM:604928
HP:0011869	Abnormal platelet function	3937	LCP2	OMIM:619374
HP:0011869	Abnormal platelet function	8328	GFI1B	OMIM:187900
HP:0011869	Abnormal platelet function	1130	LYST	ORPHA:167
HP:0011869	Abnormal platelet function	2623	GATA1	ORPHA:231393
HP:0011869	Abnormal platelet function	7454	WAS	ORPHA:906
HP:0011869	Abnormal platelet function	7456	WIPF1	ORPHA:906
HP:0011869	Abnormal platelet function	22800	RRAS2	ORPHA:648
HP:0011869	Abnormal platelet function	867	CBL	ORPHA:648
HP:0011869	Abnormal platelet function	8216	LZTR1	ORPHA:648
HP:0011869	Abnormal platelet function	6016	RIT1	ORPHA:648
HP:0011869	Abnormal platelet function	6237	RRAS	ORPHA:648
HP:0011869	Abnormal platelet function	5894	RAF1	ORPHA:648
HP:0011869	Abnormal platelet function	22808	MRAS	ORPHA:648
HP:0011869	Abnormal platelet function	3845	KRAS	ORPHA:648
HP:0011869	Abnormal platelet function	200734	SPRED2	ORPHA:648
HP:0011869	Abnormal platelet function	4893	NRAS	ORPHA:648
HP:0011869	Abnormal platelet function	6654	SOS1	ORPHA:648
HP:0011869	Abnormal platelet function	6655	SOS2	ORPHA:648
HP:0011869	Abnormal platelet function	5781	PTPN11	ORPHA:648
HP:0011869	Abnormal platelet function	5922	RASA2	ORPHA:648
HP:0011869	Abnormal platelet function	87	ACTN1	OMIM:615193
HP:0011869	Abnormal platelet function	219285	SAMD9L	ORPHA:2585
HP:0011869	Abnormal platelet function	2778	GNAS	ORPHA:79443
HP:0011869	Abnormal platelet function	64376	IKZF5	OMIM:619130
HP:0011869	Abnormal platelet function	51206	GP6	OMIM:614201
HP:0011869	Abnormal platelet function	23218	NBEAL2	OMIM:139090
HP:0011869	Abnormal platelet function	2811	GP1BA	ORPHA:274
HP:0011869	Abnormal platelet function	2812	GP1BB	ORPHA:274
HP:0011869	Abnormal platelet function	2815	GP9	ORPHA:274
HP:0011869	Abnormal platelet function	6915	TBXA2R	OMIM:614009
HP:0011869	Abnormal platelet function	26258	BLOC1S6	OMIM:614171
HP:0011869	Abnormal platelet function	2982	GUCY1A1	ORPHA:401945
HP:0011869	Abnormal platelet function	3674	ITGA2B	OMIM:273800
HP:0011869	Abnormal platelet function	3690	ITGB3	OMIM:619267
HP:0011869	Abnormal platelet function	10559	SLC35A1	OMIM:603585
HP:0011861	Bilateral trilobed lung	7547	ZIC3	OMIM:306955
HP:0011861	Bilateral trilobed lung	1147	CHUK	OMIM:613630
HP:0011861	Bilateral trilobed lung	4838	NODAL	OMIM:270100
HP:0011862	Abnormal bone collagen fibril morphology	64175	P3H1	OMIM:610915
HP:0011864	Elevated plasma pyrophosphate	249	ALPL	OMIM:241500
HP:0011864	Elevated plasma pyrophosphate	249	ALPL	OMIM:241510
HP:0011860	Metaphyseal dappling	1280	COL2A1	OMIM:184250
HP:0003093	Limited hip extension	667	DST	OMIM:614653
HP:0003093	Limited hip extension	9469	CHST3	OMIM:143095
HP:0003093	Limited hip extension	1311	COMP	ORPHA:750
HP:0003093	Limited hip extension	1311	COMP	OMIM:177170
HP:0003093	Limited hip extension	2261	FGFR3	OMIM:100800
HP:0003093	Limited hip extension	339855	KY	OMIM:617114
HP:0008812	Flattened femoral head	6399	TRAPPC2	ORPHA:93284
HP:0008812	Flattened femoral head	83452	RAB33B	OMIM:615222
HP:0008812	Flattened femoral head	59341	TRPV4	ORPHA:86820
HP:0008812	Flattened femoral head	1280	COL2A1	ORPHA:86820
HP:0008812	Flattened femoral head	1280	COL2A1	ORPHA:166011
HP:0008812	Flattened femoral head	1280	COL2A1	ORPHA:1856
HP:0008812	Flattened femoral head	89970	RSPRY1	ORPHA:457395
HP:0008812	Flattened femoral head	10216	PRG4	ORPHA:2848
HP:0008812	Flattened femoral head	2720	GLB1	ORPHA:79255
HP:0001651	Dextrocardia	23241	PACS2	OMIM:618067
HP:0001651	Dextrocardia	4838	NODAL	OMIM:270100
HP:0001651	Dextrocardia	54880	BCOR	OMIM:300166
HP:0001651	Dextrocardia	2187	FANCB	OMIM:314390
HP:0001651	Dextrocardia	7547	ZIC3	OMIM:314390
HP:0001651	Dextrocardia	7547	ZIC3	OMIM:306955
HP:0001651	Dextrocardia	55788	LMBRD1	OMIM:277380
HP:0001651	Dextrocardia	745	MYRF	OMIM:618280
HP:0001651	Dextrocardia	2626	GATA4	OMIM:607941
HP:0001651	Dextrocardia	78987	CRELD1	OMIM:606217
HP:0001651	Dextrocardia	23483	TGDS	OMIM:616145
HP:0001651	Dextrocardia	93	ACVR2B	OMIM:613751
HP:0001651	Dextrocardia	4000	LMNA	ORPHA:1662
HP:0001651	Dextrocardia	10269	ZMPSTE24	ORPHA:1662
HP:0001651	Dextrocardia	4087	SMAD2	OMIM:619657
HP:0001651	Dextrocardia	1000	CDH2	OMIM:618929
HP:0001651	Dextrocardia	25970	SH2B1	ORPHA:261197
HP:0001651	Dextrocardia	168507	PKD1L1	OMIM:617205
HP:0001651	Dextrocardia	80781	COL18A1	ORPHA:1571
HP:0001651	Dextrocardia	5062	PAK2	ORPHA:1571
HP:0001651	Dextrocardia	27019	DNAI1	OMIM:244400
HP:0001651	Dextrocardia	27019	DNAI1	ORPHA:244
HP:0001651	Dextrocardia	79600	TCTN1	ORPHA:475
HP:0001651	Dextrocardia	79600	TCTN1	ORPHA:564
HP:0001651	Dextrocardia	79848	CSPP1	ORPHA:475
HP:0001651	Dextrocardia	79848	CSPP1	ORPHA:564
HP:0001651	Dextrocardia	51684	SUFU	ORPHA:475
HP:0001651	Dextrocardia	54806	AHI1	ORPHA:475
HP:0001651	Dextrocardia	153241	CEP120	ORPHA:475
HP:0001651	Dextrocardia	65250	CPLANE1	ORPHA:475
HP:0001651	Dextrocardia	91147	TMEM67	ORPHA:475
HP:0001651	Dextrocardia	91147	TMEM67	ORPHA:564
HP:0001651	Dextrocardia	200894	ARL13B	ORPHA:475
HP:0001651	Dextrocardia	9731	CEP104	ORPHA:475
HP:0001651	Dextrocardia	219844	HYLS1	ORPHA:475
HP:0001651	Dextrocardia	23247	KATNIP	ORPHA:475
HP:0001651	Dextrocardia	219854	TMEM218	ORPHA:475
HP:0001651	Dextrocardia	54903	MKS1	ORPHA:475
HP:0001651	Dextrocardia	54903	MKS1	ORPHA:564
HP:0001651	Dextrocardia	95681	CEP41	ORPHA:475
HP:0001651	Dextrocardia	9786	KIAA0586	ORPHA:475
HP:0001651	Dextrocardia	56623	INPP5E	ORPHA:475
HP:0001651	Dextrocardia	79867	TCTN2	ORPHA:475
HP:0001651	Dextrocardia	79867	TCTN2	ORPHA:564
HP:0001651	Dextrocardia	80776	B9D2	ORPHA:475
HP:0001651	Dextrocardia	80776	B9D2	ORPHA:564
HP:0001651	Dextrocardia	10464	PIBF1	ORPHA:475
HP:0001651	Dextrocardia	80210	ARMC9	ORPHA:475
HP:0001651	Dextrocardia	23116	TOGARAM1	ORPHA:475
HP:0001651	Dextrocardia	25776	CBY1	ORPHA:475
HP:0001651	Dextrocardia	27077	B9D1	ORPHA:475
HP:0001651	Dextrocardia	27077	B9D1	ORPHA:564
HP:0001651	Dextrocardia	403	ARL3	ORPHA:475
HP:0001651	Dextrocardia	65062	TMEM237	ORPHA:475
HP:0001651	Dextrocardia	65062	TMEM237	ORPHA:564
HP:0001651	Dextrocardia	139212	DNAAF6	OMIM:300991
HP:0001651	Dextrocardia	139212	DNAAF6	ORPHA:244
HP:0001651	Dextrocardia	85016	CFAP300	OMIM:618063
HP:0001651	Dextrocardia	85016	CFAP300	ORPHA:244
HP:0001651	Dextrocardia	5396	PRRX1	ORPHA:990
HP:0001651	Dextrocardia	5396	PRRX1	OMIM:202650
HP:0001651	Dextrocardia	5015	OTX2	ORPHA:990
HP:0001651	Dextrocardia	83538	ODAD4	OMIM:617092
HP:0001651	Dextrocardia	83538	ODAD4	ORPHA:244
HP:0001651	Dextrocardia	1770	DNAH9	OMIM:618300
HP:0001651	Dextrocardia	1770	DNAH9	ORPHA:244
HP:0001651	Dextrocardia	83861	RSPH3	OMIM:616481
HP:0001651	Dextrocardia	83861	RSPH3	ORPHA:244
HP:0001651	Dextrocardia	5311	PKD2	OMIM:613095
HP:0001651	Dextrocardia	23568	ARL2BP	OMIM:615434
HP:0001651	Dextrocardia	10309	CCNO	OMIM:615872
HP:0001651	Dextrocardia	10309	CCNO	ORPHA:244
HP:0001651	Dextrocardia	55329	MNS1	OMIM:618948
HP:0001651	Dextrocardia	25981	DNAH1	OMIM:617577
HP:0001651	Dextrocardia	25981	DNAH1	ORPHA:244
HP:0001651	Dextrocardia	54585	LZTFL1	OMIM:615994
HP:0001651	Dextrocardia	64446	DNAI2	OMIM:612444
HP:0001651	Dextrocardia	64446	DNAI2	ORPHA:244
HP:0001651	Dextrocardia	4487	MSX1	ORPHA:199302
HP:0001651	Dextrocardia	5818	NECTIN1	ORPHA:199302
HP:0001651	Dextrocardia	8626	TP63	ORPHA:199302
HP:0001651	Dextrocardia	3664	IRF6	ORPHA:199302
HP:0001651	Dextrocardia	54768	HYDIN	OMIM:608647
HP:0001651	Dextrocardia	54768	HYDIN	ORPHA:244
HP:0001651	Dextrocardia	197131	UBR1	OMIM:243800
HP:0001651	Dextrocardia	7490	WT1	ORPHA:3097
HP:0001651	Dextrocardia	89765	RSPH1	OMIM:615481
HP:0001651	Dextrocardia	89765	RSPH1	ORPHA:244
HP:0001651	Dextrocardia	161582	DNAAF4	OMIM:615482
HP:0001651	Dextrocardia	161582	DNAAF4	ORPHA:244
HP:0001651	Dextrocardia	27031	NPHP3	OMIM:208540
HP:0001651	Dextrocardia	27031	NPHP3	OMIM:267010
HP:0001651	Dextrocardia	10991	SLC38A3	OMIM:619881
HP:0001651	Dextrocardia	221421	RSPH9	OMIM:612650
HP:0001651	Dextrocardia	221421	RSPH9	ORPHA:244
HP:0001651	Dextrocardia	54919	DNAAF5	OMIM:614874
HP:0001651	Dextrocardia	54919	DNAAF5	ORPHA:244
HP:0001651	Dextrocardia	146845	CFAP52	OMIM:619607
HP:0001651	Dextrocardia	51364	ZMYND10	OMIM:615444
HP:0001651	Dextrocardia	51364	ZMYND10	ORPHA:244
HP:0001651	Dextrocardia	25790	CFAP45	OMIM:619608
HP:0001651	Dextrocardia	10126	DNAL4	OMIM:616059
HP:0001651	Dextrocardia	388389	CCDC103	OMIM:614679
HP:0001651	Dextrocardia	388389	CCDC103	ORPHA:244
HP:0001651	Dextrocardia	25914	RTTN	OMIM:614833
HP:0001651	Dextrocardia	8701	DNAH11	OMIM:611884
HP:0001651	Dextrocardia	8701	DNAH11	ORPHA:244
HP:0001651	Dextrocardia	1767	DNAH5	OMIM:608644
HP:0001651	Dextrocardia	1767	DNAH5	ORPHA:244
HP:0001651	Dextrocardia	55997	CFC1	OMIM:605376
HP:0001651	Dextrocardia	85452	CFAP74	OMIM:620197
HP:0001651	Dextrocardia	8382	NME5	OMIM:620032
HP:0001651	Dextrocardia	10084	PQBP1	OMIM:309500
HP:0001651	Dextrocardia	123872	DNAAF1	OMIM:613193
HP:0001651	Dextrocardia	123872	DNAAF1	ORPHA:244
HP:0001651	Dextrocardia	79989	IFT56	OMIM:619534
HP:0001651	Dextrocardia	2657	GDF1	OMIM:208530
HP:0001651	Dextrocardia	55130	ODAD2	OMIM:615451
HP:0001651	Dextrocardia	55130	ODAD2	ORPHA:244
HP:0001651	Dextrocardia	10560	SLC19A2	OMIM:249270
HP:0001651	Dextrocardia	23090	ZNF423	OMIM:614844
HP:0001651	Dextrocardia	284086	NEK8	OMIM:615415
HP:0001651	Dextrocardia	118856	MMP21	OMIM:616749
HP:0001651	Dextrocardia	115948	ODAD3	ORPHA:244
HP:0001651	Dextrocardia	115948	ODAD3	OMIM:616037
HP:0001651	Dextrocardia	352909	DNAAF3	ORPHA:244
HP:0001651	Dextrocardia	352909	DNAAF3	OMIM:606763
HP:0001651	Dextrocardia	27148	STK36	ORPHA:244
HP:0001651	Dextrocardia	51314	NME8	ORPHA:244
HP:0001651	Dextrocardia	92749	DRC1	ORPHA:244
HP:0001651	Dextrocardia	54970	TTC12	ORPHA:244
HP:0001651	Dextrocardia	152110	NEK10	ORPHA:244
HP:0001651	Dextrocardia	8481	OFD1	ORPHA:244
HP:0001651	Dextrocardia	2302	FOXJ1	ORPHA:244
HP:0001651	Dextrocardia	85478	CCDC65	ORPHA:244
HP:0001651	Dextrocardia	85478	CCDC65	OMIM:615504
HP:0001651	Dextrocardia	55036	CCDC40	ORPHA:244
HP:0001651	Dextrocardia	55036	CCDC40	OMIM:613808
HP:0001651	Dextrocardia	6674	SPAG1	ORPHA:244
HP:0001651	Dextrocardia	6674	SPAG1	OMIM:615505
HP:0001651	Dextrocardia	83544	DNAL1	ORPHA:244
HP:0001651	Dextrocardia	83544	DNAL1	OMIM:614017
HP:0001651	Dextrocardia	200373	CFAP221	ORPHA:244
HP:0001651	Dextrocardia	374407	DNAJB13	ORPHA:244
HP:0001651	Dextrocardia	55172	DNAAF2	ORPHA:244
HP:0001651	Dextrocardia	55172	DNAAF2	OMIM:612518
HP:0001651	Dextrocardia	2622	GAS8	ORPHA:244
HP:0001651	Dextrocardia	23639	DNAAF11	ORPHA:244
HP:0001651	Dextrocardia	23639	DNAAF11	OMIM:614935
HP:0001651	Dextrocardia	345895	RSPH4A	ORPHA:244
HP:0001651	Dextrocardia	6103	RPGR	ORPHA:244
HP:0001651	Dextrocardia	93233	ODAD1	ORPHA:244
HP:0001651	Dextrocardia	93233	ODAD1	OMIM:615067
HP:0001651	Dextrocardia	345643	MCIDAS	ORPHA:244
HP:0001651	Dextrocardia	56683	CFAP298	ORPHA:244
HP:0001651	Dextrocardia	56683	CFAP298	OMIM:615500
HP:0001651	Dextrocardia	79925	SPEF2	ORPHA:244
HP:0001651	Dextrocardia	115399	LRRC56	ORPHA:244
HP:0001651	Dextrocardia	339829	CCDC39	ORPHA:244
HP:0001651	Dextrocardia	339829	CCDC39	OMIM:613807
HP:0001651	Dextrocardia	246176	GAS2L2	ORPHA:244
HP:0001651	Dextrocardia	5566	PRKACA	ORPHA:289
HP:0001651	Dextrocardia	5567	PRKACB	ORPHA:289
HP:0001651	Dextrocardia	2735	GLI1	ORPHA:289
HP:0001651	Dextrocardia	2121	EVC	ORPHA:289
HP:0001651	Dextrocardia	51626	DYNC2LI1	ORPHA:289
HP:0001651	Dextrocardia	132884	EVC2	ORPHA:289
HP:0001651	Dextrocardia	84314	TMEM107	ORPHA:564
HP:0001651	Dextrocardia	26123	TCTN3	ORPHA:564
HP:0001651	Dextrocardia	57096	RPGRIP1	ORPHA:564
HP:0001651	Dextrocardia	80184	CEP290	ORPHA:564
HP:0001651	Dextrocardia	51259	TMEM216	ORPHA:564
HP:0001651	Dextrocardia	57545	CC2D2A	ORPHA:564
HP:0001651	Dextrocardia	79583	TMEM231	ORPHA:564
HP:0001651	Dextrocardia	79770	TXNDC15	ORPHA:564
HP:0001651	Dextrocardia	23322	RPGRIP1L	ORPHA:564
HP:0001651	Dextrocardia	203286	ANKS6	OMIM:615382
HP:0001651	Dextrocardia	123016	TTC8	OMIM:615985
HP:0001651	Dextrocardia	84667	HES7	OMIM:613686
HP:0001651	Dextrocardia	1954	MEGF8	OMIM:614976
HP:0001651	Dextrocardia	220136	CFAP53	OMIM:614779
HP:0001651	Dextrocardia	100128908	CIROP	OMIM:619702
HP:0001651	Dextrocardia	63895	PIEZO2	ORPHA:2461
HP:0001651	Dextrocardia	27130	INVS	OMIM:602088
HP:0001653	Mitral regurgitation	4088	SMAD3	ORPHA:284984
HP:0001653	Mitral regurgitation	4088	SMAD3	OMIM:613795
HP:0001653	Mitral regurgitation	10128	LRPPRC	OMIM:220111
HP:0001653	Mitral regurgitation	894	CCND2	ORPHA:83473
HP:0001653	Mitral regurgitation	5296	PIK3R2	ORPHA:83473
HP:0001653	Mitral regurgitation	5296	PIK3R2	OMIM:603387
HP:0001653	Mitral regurgitation	10000	AKT3	ORPHA:83473
HP:0001653	Mitral regurgitation	8216	LZTR1	OMIM:616564
HP:0001653	Mitral regurgitation	151648	SGO1	OMIM:616201
HP:0001653	Mitral regurgitation	6016	RIT1	OMIM:615355
HP:0001653	Mitral regurgitation	23394	ADNP	OMIM:615873
HP:0001653	Mitral regurgitation	79912	PYROXD1	OMIM:617258
HP:0001653	Mitral regurgitation	1788	DNMT3A	OMIM:615879
HP:0001653	Mitral regurgitation	1788	DNMT3A	ORPHA:404443
HP:0001653	Mitral regurgitation	4091	SMAD6	OMIM:614823
HP:0001653	Mitral regurgitation	2316	FLNA	OMIM:314400
HP:0001653	Mitral regurgitation	2316	FLNA	ORPHA:88630
HP:0001653	Mitral regurgitation	2316	FLNA	ORPHA:555877
HP:0001653	Mitral regurgitation	5428	POLG	OMIM:258450
HP:0001653	Mitral regurgitation	5428	POLG	OMIM:607459
HP:0001653	Mitral regurgitation	5894	RAF1	OMIM:615916
HP:0001653	Mitral regurgitation	2200	FBN1	ORPHA:284979
HP:0001653	Mitral regurgitation	2200	FBN1	OMIM:154700
HP:0001653	Mitral regurgitation	2200	FBN1	OMIM:614185
HP:0001653	Mitral regurgitation	2200	FBN1	OMIM:608328
HP:0001653	Mitral regurgitation	2200	FBN1	ORPHA:3449
HP:0001653	Mitral regurgitation	2200	FBN1	ORPHA:2462
HP:0001653	Mitral regurgitation	411	ARSB	OMIM:253200
HP:0001653	Mitral regurgitation	4125	MAN2B1	ORPHA:309282
HP:0001653	Mitral regurgitation	1837	DTNA	OMIM:604169
HP:0001653	Mitral regurgitation	1278	COL1A2	ORPHA:230851
HP:0001653	Mitral regurgitation	1278	COL1A2	OMIM:225320
HP:0001653	Mitral regurgitation	6392	SDHD	OMIM:619167
HP:0001653	Mitral regurgitation	84665	MYPN	OMIM:615248
HP:0001653	Mitral regurgitation	84665	MYPN	ORPHA:75249
HP:0001653	Mitral regurgitation	10516	FBLN5	OMIM:614434
HP:0001653	Mitral regurgitation	10516	FBLN5	ORPHA:90348
HP:0001653	Mitral regurgitation	2201	FBN2	OMIM:121050
HP:0001653	Mitral regurgitation	10216	PRG4	ORPHA:2848
HP:0001653	Mitral regurgitation	55033	FKBP14	OMIM:614557
HP:0001653	Mitral regurgitation	79158	GNPTAB	OMIM:252500
HP:0001653	Mitral regurgitation	79158	GNPTAB	ORPHA:576
HP:0001653	Mitral regurgitation	3949	LDLR	ORPHA:391665
HP:0001653	Mitral regurgitation	255738	PCSK9	ORPHA:391665
HP:0001653	Mitral regurgitation	26119	LDLRAP1	ORPHA:391665
HP:0001653	Mitral regurgitation	338	APOB	ORPHA:391665
HP:0001653	Mitral regurgitation	64240	ABCG5	ORPHA:391665
HP:0001653	Mitral regurgitation	64241	ABCG8	ORPHA:391665
HP:0001653	Mitral regurgitation	6660	SOX5	ORPHA:313892
HP:0001653	Mitral regurgitation	6197	RPS6KA3	OMIM:303600
HP:0001653	Mitral regurgitation	2626	GATA4	OMIM:607941
HP:0001653	Mitral regurgitation	2626	GATA4	ORPHA:99103
HP:0001653	Mitral regurgitation	65082	VPS33A	ORPHA:505248
HP:0001653	Mitral regurgitation	3074	HEXB	ORPHA:309155
HP:0001653	Mitral regurgitation	56915	EXOSC5	OMIM:619576
HP:0001653	Mitral regurgitation	8642	DCHS1	OMIM:607829
HP:0001653	Mitral regurgitation	63976	PRDM16	OMIM:615373
HP:0001653	Mitral regurgitation	10265	IRX5	OMIM:611174
HP:0001653	Mitral regurgitation	9469	CHST3	OMIM:143095
HP:0001653	Mitral regurgitation	92579	G6PC3	OMIM:612541
HP:0001653	Mitral regurgitation	4000	LMNA	OMIM:212112
HP:0001653	Mitral regurgitation	4000	LMNA	ORPHA:740
HP:0001653	Mitral regurgitation	4000	LMNA	ORPHA:363618
HP:0001653	Mitral regurgitation	29940	DSE	OMIM:615539
HP:0001653	Mitral regurgitation	83550	GPR101	ORPHA:963
HP:0001653	Mitral regurgitation	9049	AIP	ORPHA:963
HP:0001653	Mitral regurgitation	2717	GLA	ORPHA:324
HP:0001653	Mitral regurgitation	54539	NDUFB11	ORPHA:2556
HP:0001653	Mitral regurgitation	1349	COX7B	ORPHA:2556
HP:0001653	Mitral regurgitation	3052	HCCS	ORPHA:2556
HP:0001653	Mitral regurgitation	1277	COL1A1	ORPHA:287
HP:0001653	Mitral regurgitation	1289	COL5A1	ORPHA:287
HP:0001653	Mitral regurgitation	1290	COL5A2	ORPHA:287
HP:0001653	Mitral regurgitation	4763	NF1	ORPHA:363700
HP:0001653	Mitral regurgitation	1193	CLIC2	ORPHA:324410
HP:0001653	Mitral regurgitation	79576	NKAP	OMIM:301039
HP:0001653	Mitral regurgitation	2318	FLNC	OMIM:617047
HP:0001653	Mitral regurgitation	2318	FLNC	ORPHA:75249
HP:0001653	Mitral regurgitation	4015	LOX	OMIM:617168
HP:0001653	Mitral regurgitation	6885	MAP3K7	OMIM:157800
HP:0001653	Mitral regurgitation	6885	MAP3K7	ORPHA:3238
HP:0001653	Mitral regurgitation	2720	GLB1	OMIM:253010
HP:0001653	Mitral regurgitation	1482	NKX2-5	OMIM:225250
HP:0001653	Mitral regurgitation	1482	NKX2-5	ORPHA:99103
HP:0001653	Mitral regurgitation	175	AGA	OMIM:208400
HP:0001653	Mitral regurgitation	3425	IDUA	OMIM:607014
HP:0001653	Mitral regurgitation	3425	IDUA	OMIM:607015
HP:0001653	Mitral regurgitation	9531	BAG3	OMIM:612954
HP:0001653	Mitral regurgitation	4089	SMAD4	OMIM:175050
HP:0001653	Mitral regurgitation	7092	TLL1	ORPHA:99106
HP:0001653	Mitral regurgitation	7092	TLL1	ORPHA:99103
HP:0001653	Mitral regurgitation	81794	ADAMTS10	OMIM:277600
HP:0001653	Mitral regurgitation	81794	ADAMTS10	ORPHA:3449
HP:0001653	Mitral regurgitation	5337	PLD1	OMIM:212093
HP:0001653	Mitral regurgitation	57057	TBX20	ORPHA:99103
HP:0001653	Mitral regurgitation	4624	MYH6	ORPHA:99103
HP:0001653	Mitral regurgitation	70	ACTC1	ORPHA:99103
HP:0001653	Mitral regurgitation	10370	CITED2	ORPHA:99103
HP:0001653	Mitral regurgitation	2627	GATA6	ORPHA:99103
HP:0001653	Mitral regurgitation	10664	CTCF	ORPHA:363611
HP:0001653	Mitral regurgitation	3572	IL6ST	OMIM:619750
HP:0001653	Mitral regurgitation	6125	RPL5	OMIM:612561
HP:0001653	Mitral regurgitation	5828	PEX2	OMIM:614866
HP:0001653	Mitral regurgitation	6804	STX1A	ORPHA:904
HP:0001653	Mitral regurgitation	7461	CLIP2	ORPHA:904
HP:0001653	Mitral regurgitation	84277	DNAJC30	ORPHA:904
HP:0001653	Mitral regurgitation	8468	FKBP6	ORPHA:904
HP:0001653	Mitral regurgitation	5982	RFC2	ORPHA:904
HP:0001653	Mitral regurgitation	2969	GTF2I	ORPHA:904
HP:0001653	Mitral regurgitation	3984	LIMK1	ORPHA:904
HP:0001653	Mitral regurgitation	9569	GTF2IRD1	ORPHA:904
HP:0001653	Mitral regurgitation	155382	VPS37D	ORPHA:904
HP:0001653	Mitral regurgitation	155368	METTL27	ORPHA:904
HP:0001653	Mitral regurgitation	114049	BUD23	ORPHA:904
HP:0001653	Mitral regurgitation	7458	EIF4H	ORPHA:904
HP:0001653	Mitral regurgitation	84163	GTF2IRD2	ORPHA:904
HP:0001653	Mitral regurgitation	9275	BCL7B	ORPHA:904
HP:0001653	Mitral regurgitation	26608	TBL2	ORPHA:904
HP:0001653	Mitral regurgitation	653361	NCF1	ORPHA:904
HP:0001653	Mitral regurgitation	135886	TMEM270	ORPHA:904
HP:0001653	Mitral regurgitation	51085	MLXIPL	ORPHA:904
HP:0001653	Mitral regurgitation	51085	MLXIPL	OMIM:194050
HP:0001653	Mitral regurgitation	9031	BAZ1B	ORPHA:904
HP:0001653	Mitral regurgitation	2006	ELN	ORPHA:904
HP:0001653	Mitral regurgitation	2006	ELN	OMIM:123700
HP:0001653	Mitral regurgitation	2006	ELN	OMIM:194050
HP:0001653	Mitral regurgitation	2006	ELN	ORPHA:90348
HP:0001653	Mitral regurgitation	79770	TXNDC15	OMIM:619879
HP:0001653	Mitral regurgitation	10290	SPEG	OMIM:615959
HP:0001653	Mitral regurgitation	3032	HADHB	ORPHA:746
HP:0001653	Mitral regurgitation	3030	HADHA	ORPHA:746
HP:0001653	Mitral regurgitation	7139	TNNT2	ORPHA:75249
HP:0001653	Mitral regurgitation	7137	TNNI3	ORPHA:75249
HP:0001653	Mitral regurgitation	10112	KIF20A	ORPHA:75249
HP:0001653	Mitral regurgitation	7168	TPM1	OMIM:611878
HP:0001653	Mitral regurgitation	83475	DOHH	OMIM:620066
HP:0001653	Mitral regurgitation	51284	TLR7	OMIM:301080
HP:0001653	Mitral regurgitation	25915	NDUFAF3	ORPHA:70474
HP:0001653	Mitral regurgitation	4714	NDUFB8	ORPHA:70474
HP:0001653	Mitral regurgitation	4720	NDUFS2	ORPHA:70474
HP:0001653	Mitral regurgitation	9997	SCO2	ORPHA:70474
HP:0001653	Mitral regurgitation	6834	SURF1	ORPHA:70474
HP:0001653	Mitral regurgitation	10269	ZMPSTE24	ORPHA:740
HP:0001653	Mitral regurgitation	113189	CHST14	OMIM:601776
HP:0001653	Mitral regurgitation	2629	GBA1	OMIM:230800
HP:0001653	Mitral regurgitation	10651	MTX2	OMIM:619127
HP:0001653	Mitral regurgitation	368	ABCC6	OMIM:614473
HP:0001653	Mitral regurgitation	5594	MAPK1	OMIM:619087
HP:0001653	Mitral regurgitation	29123	ANKRD11	ORPHA:261250
HP:0001653	Mitral regurgitation	5500	PPP1CB	OMIM:617506
HP:0001653	Mitral regurgitation	4625	MYH7	OMIM:613426
HP:0001653	Mitral regurgitation	54800	KLHL24	OMIM:620236
HP:0001653	Mitral regurgitation	2799	GNS	OMIM:252940
HP:0001653	Mitral regurgitation	2273	FHL1	OMIM:300280
HP:0001653	Mitral regurgitation	126792	B3GALT6	OMIM:271640
HP:0001653	Mitral regurgitation	6123	RPL3L	OMIM:619371
HP:0001653	Mitral regurgitation	442721	LMOD2	OMIM:619897
HP:0001653	Mitral regurgitation	89970	RSPRY1	ORPHA:457395
HP:0001653	Mitral regurgitation	4053	LTBP2	ORPHA:3449
HP:0001653	Mitral regurgitation	5832	ALDH18A1	ORPHA:90348
HP:0001653	Mitral regurgitation	5832	ALDH18A1	ORPHA:447753
HP:0001653	Mitral regurgitation	8815	BANF1	OMIM:614008
HP:0001653	Mitral regurgitation	22873	DZIP1	OMIM:610840
HP:0001653	Mitral regurgitation	55901	THSD1	OMIM:620244
HP:0001653	Mitral regurgitation	84188	FAR1	ORPHA:447753
HP:0001653	Mitral regurgitation	57538	ALPK3	OMIM:618052
HP:0001653	Mitral regurgitation	56652	TWNK	OMIM:607459
HP:0001653	Mitral regurgitation	1410	CRYAB	OMIM:615184
HP:0001653	Mitral regurgitation	4633	MYL2	OMIM:619424
HP:0001653	Mitral regurgitation	5310	PKD1	OMIM:173900
HP:0001653	Mitral regurgitation	7043	TGFB3	OMIM:615582
HP:0001653	Mitral regurgitation	341208	HEPHL1	OMIM:261990
HP:0001653	Mitral regurgitation	867	CBL	OMIM:613563
HP:0001653	Mitral regurgitation	23590	PDSS1	OMIM:614651
HP:0001653	Mitral regurgitation	6497	SKI	ORPHA:2462
HP:0001653	Mitral regurgitation	4054	LTBP3	OMIM:617809
HP:0001653	Mitral regurgitation	149233	IL23R	ORPHA:117
HP:0001653	Mitral regurgitation	6775	STAT4	ORPHA:117
HP:0001653	Mitral regurgitation	3586	IL10	ORPHA:117
HP:0001653	Mitral regurgitation	4210	MEFV	ORPHA:117
HP:0001653	Mitral regurgitation	1230	CCR1	ORPHA:117
HP:0001653	Mitral regurgitation	355	FAS	ORPHA:117
HP:0001653	Mitral regurgitation	3592	IL12A	ORPHA:117
HP:0001653	Mitral regurgitation	101928376	IL12A-AS1	ORPHA:117
HP:0001653	Mitral regurgitation	3106	HLA-B	ORPHA:117
HP:0001653	Mitral regurgitation	7099	TLR4	ORPHA:117
HP:0001653	Mitral regurgitation	3459	IFNGR1	ORPHA:117
HP:0001653	Mitral regurgitation	720	C4A	ORPHA:117
HP:0001653	Mitral regurgitation	337867	UBAC2	ORPHA:117
HP:0001653	Mitral regurgitation	51752	ERAP1	ORPHA:117
HP:0001653	Mitral regurgitation	8302	KLRC4	ORPHA:117
HP:0001653	Mitral regurgitation	6584	SLC22A5	OMIM:212140
HP:0001654	Abnormal heart valve morphology	7092	TLL1	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	57057	TBX20	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	4624	MYH6	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	70	ACTC1	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	10370	CITED2	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	2626	GATA4	ORPHA:99103
HP:0001654	Abnormal heart valve morphology	2137	EXTL3	ORPHA:508533
HP:0001654	Abnormal heart valve morphology	57190	SELENON	ORPHA:324604
HP:0001654	Abnormal heart valve morphology	9158	FIBP	ORPHA:500095
HP:0001654	Abnormal heart valve morphology	9158	FIBP	OMIM:617107
HP:0001654	Abnormal heart valve morphology	84627	ZNF469	OMIM:229200
HP:0001654	Abnormal heart valve morphology	84627	ZNF469	ORPHA:90354
HP:0001654	Abnormal heart valve morphology	2972	BRF1	OMIM:616202
HP:0001654	Abnormal heart valve morphology	2972	BRF1	ORPHA:444072
HP:0001654	Abnormal heart valve morphology	23394	ADNP	OMIM:615873
HP:0001654	Abnormal heart valve morphology	5428	POLG	OMIM:258450
HP:0001654	Abnormal heart valve morphology	5428	POLG	OMIM:607459
HP:0001654	Abnormal heart valve morphology	10021	HCN4	OMIM:163800
HP:0001654	Abnormal heart valve morphology	55315	SLC29A3	OMIM:602782
HP:0001654	Abnormal heart valve morphology	4054	LTBP3	OMIM:601216
HP:0001654	Abnormal heart valve morphology	10216	PRG4	ORPHA:2848
HP:0001654	Abnormal heart valve morphology	51726	DNAJB11	ORPHA:730
HP:0001654	Abnormal heart valve morphology	23193	GANAB	ORPHA:730
HP:0001654	Abnormal heart valve morphology	5310	PKD1	ORPHA:730
HP:0001654	Abnormal heart valve morphology	5310	PKD1	OMIM:173900
HP:0001654	Abnormal heart valve morphology	5311	PKD2	ORPHA:730
HP:0001654	Abnormal heart valve morphology	29880	ALG5	ORPHA:730
HP:0001654	Abnormal heart valve morphology	9742	IFT140	ORPHA:730
HP:0001654	Abnormal heart valve morphology	79796	ALG9	ORPHA:730
HP:0001654	Abnormal heart valve morphology	80114	BICC1	ORPHA:730
HP:0001654	Abnormal heart valve morphology	3074	HEXB	ORPHA:309155
HP:0001654	Abnormal heart valve morphology	2332	FMR1	ORPHA:449291
HP:0001654	Abnormal heart valve morphology	2332	FMR1	OMIM:300624
HP:0001654	Abnormal heart valve morphology	2332	FMR1	ORPHA:908
HP:0001654	Abnormal heart valve morphology	8642	DCHS1	OMIM:607829
HP:0001654	Abnormal heart valve morphology	84665	MYPN	ORPHA:171881
HP:0001654	Abnormal heart valve morphology	7169	TPM2	ORPHA:171881
HP:0001654	Abnormal heart valve morphology	7170	TPM3	ORPHA:171881
HP:0001654	Abnormal heart valve morphology	165	AEBP1	OMIM:618000
HP:0001654	Abnormal heart valve morphology	165	AEBP1	ORPHA:536532
HP:0001654	Abnormal heart valve morphology	9968	MED12	ORPHA:93932
HP:0001654	Abnormal heart valve morphology	5351	PLOD1	ORPHA:1900
HP:0001654	Abnormal heart valve morphology	157680	VPS13B	OMIM:216550
HP:0001654	Abnormal heart valve morphology	157680	VPS13B	ORPHA:193
HP:0001654	Abnormal heart valve morphology	3265	HRAS	ORPHA:3071
HP:0001654	Abnormal heart valve morphology	3265	HRAS	OMIM:218040
HP:0001654	Abnormal heart valve morphology	56776	FMN2	OMIM:616193
HP:0001654	Abnormal heart valve morphology	26278	SACS	ORPHA:98
HP:0001654	Abnormal heart valve morphology	4763	NF1	ORPHA:363700
HP:0001654	Abnormal heart valve morphology	633	BGN	OMIM:300989
HP:0001654	Abnormal heart valve morphology	3188	HNRNPH2	OMIM:300986
HP:0001654	Abnormal heart valve morphology	1280	COL2A1	ORPHA:90653
HP:0001654	Abnormal heart valve morphology	1280	COL2A1	OMIM:108300
HP:0001654	Abnormal heart valve morphology	7450	VWF	OMIM:193400
HP:0001654	Abnormal heart valve morphology	10526	IPO8	OMIM:619472
HP:0001654	Abnormal heart valve morphology	6125	RPL5	OMIM:612561
HP:0001654	Abnormal heart valve morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001654	Abnormal heart valve morphology	285590	SH3PXD2B	OMIM:249420
HP:0001654	Abnormal heart valve morphology	286	ANK1	ORPHA:251066
HP:0001654	Abnormal heart valve morphology	368	ABCC6	OMIM:177850
HP:0001654	Abnormal heart valve morphology	368	ABCC6	OMIM:264800
HP:0001654	Abnormal heart valve morphology	368	ABCC6	ORPHA:758
HP:0001654	Abnormal heart valve morphology	64131	XYLT1	OMIM:264800
HP:0001654	Abnormal heart valve morphology	5594	MAPK1	OMIM:619087
HP:0001654	Abnormal heart valve morphology	10551	AGR2	OMIM:620233
HP:0001654	Abnormal heart valve morphology	11107	PRDM5	ORPHA:90354
HP:0001654	Abnormal heart valve morphology	22873	DZIP1	OMIM:610840
HP:0001654	Abnormal heart valve morphology	6533	SLC6A6	OMIM:145350
HP:0001654	Abnormal heart valve morphology	875	CBS	OMIM:236200
HP:0001654	Abnormal heart valve morphology	56652	TWNK	OMIM:607459
HP:0001654	Abnormal heart valve morphology	4883	NPR3	OMIM:619543
HP:0001654	Abnormal heart valve morphology	529	ATP6V1E1	OMIM:617402
HP:0001654	Abnormal heart valve morphology	5167	ENPP1	ORPHA:758
HP:0001654	Abnormal heart valve morphology	161742	SPRED1	ORPHA:137605
HP:0001654	Abnormal heart valve morphology	1859	DYRK1A	ORPHA:268261
HP:0001654	Abnormal heart valve morphology	84282	RNF135	ORPHA:137634
HP:0001654	Abnormal heart valve morphology	22800	RRAS2	ORPHA:648
HP:0001654	Abnormal heart valve morphology	8216	LZTR1	ORPHA:648
HP:0001654	Abnormal heart valve morphology	6016	RIT1	ORPHA:648
HP:0001654	Abnormal heart valve morphology	6237	RRAS	ORPHA:648
HP:0001654	Abnormal heart valve morphology	5894	RAF1	ORPHA:648
HP:0001654	Abnormal heart valve morphology	5894	RAF1	ORPHA:500
HP:0001654	Abnormal heart valve morphology	22808	MRAS	ORPHA:648
HP:0001654	Abnormal heart valve morphology	200734	SPRED2	ORPHA:648
HP:0001654	Abnormal heart valve morphology	4893	NRAS	ORPHA:648
HP:0001654	Abnormal heart valve morphology	6654	SOS1	ORPHA:648
HP:0001654	Abnormal heart valve morphology	6655	SOS2	ORPHA:648
HP:0001654	Abnormal heart valve morphology	5781	PTPN11	ORPHA:648
HP:0001654	Abnormal heart valve morphology	5781	PTPN11	ORPHA:500
HP:0001654	Abnormal heart valve morphology	5922	RASA2	ORPHA:648
HP:0001654	Abnormal heart valve morphology	6299	SALL1	ORPHA:857
HP:0001654	Abnormal heart valve morphology	51339	DACT1	ORPHA:857
HP:0001654	Abnormal heart valve morphology	3516	RBPJ	ORPHA:974
HP:0001654	Abnormal heart valve morphology	57572	DOCK6	ORPHA:974
HP:0001654	Abnormal heart valve morphology	285203	EOGT	ORPHA:974
HP:0001654	Abnormal heart valve morphology	54567	DLL4	ORPHA:974
HP:0001654	Abnormal heart valve morphology	10312	TCIRG1	ORPHA:667
HP:0001654	Abnormal heart valve morphology	1186	CLCN7	ORPHA:667
HP:0001654	Abnormal heart valve morphology	29887	SNX10	ORPHA:667
HP:0001654	Abnormal heart valve morphology	8600	TNFSF11	ORPHA:667
HP:0001654	Abnormal heart valve morphology	23630	KCNE5	ORPHA:86818
HP:0001654	Abnormal heart valve morphology	2182	ACSL4	ORPHA:86818
HP:0001654	Abnormal heart valve morphology	9949	AMMECR1	ORPHA:86818
HP:0001654	Abnormal heart valve morphology	79158	GNPTAB	ORPHA:576
HP:0001654	Abnormal heart valve morphology	4000	LMNA	ORPHA:740
HP:0001654	Abnormal heart valve morphology	10269	ZMPSTE24	ORPHA:740
HP:0001654	Abnormal heart valve morphology	5605	MAP2K2	OMIM:615280
HP:0001654	Abnormal heart valve morphology	6197	RPS6KA3	ORPHA:192
HP:0001654	Abnormal heart valve morphology	25970	SH2B1	ORPHA:261197
HP:0001654	Abnormal heart valve morphology	54968	TMEM70	ORPHA:1194
HP:0001654	Abnormal heart valve morphology	6497	SKI	ORPHA:2462
HP:0001654	Abnormal heart valve morphology	4621	MYH3	ORPHA:2990
HP:0001654	Abnormal heart valve morphology	1146	CHRNG	ORPHA:2990
HP:0001654	Abnormal heart valve morphology	3593	IL12B	ORPHA:3287
HP:0001654	Abnormal heart valve morphology	3106	HLA-B	ORPHA:3287
HP:0001654	Abnormal heart valve morphology	6945	MLX	ORPHA:3287
HP:0001654	Abnormal heart valve morphology	672	BRCA1	ORPHA:84
HP:0001654	Abnormal heart valve morphology	10459	MAD2L2	ORPHA:84
HP:0001654	Abnormal heart valve morphology	7516	XRCC2	ORPHA:84
HP:0001654	Abnormal heart valve morphology	29089	UBE2T	ORPHA:84
HP:0001654	Abnormal heart valve morphology	675	BRCA2	ORPHA:84
HP:0001654	Abnormal heart valve morphology	55120	FANCL	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2177	FANCD2	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2175	FANCA	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2187	FANCB	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2176	FANCC	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2178	FANCE	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2188	FANCF	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2189	FANCG	ORPHA:84
HP:0001654	Abnormal heart valve morphology	5888	RAD51	ORPHA:84
HP:0001654	Abnormal heart valve morphology	5889	RAD51C	ORPHA:84
HP:0001654	Abnormal heart valve morphology	55159	RFWD3	ORPHA:84
HP:0001654	Abnormal heart valve morphology	83990	BRIP1	ORPHA:84
HP:0001654	Abnormal heart valve morphology	57697	FANCM	ORPHA:84
HP:0001654	Abnormal heart valve morphology	79728	PALB2	ORPHA:84
HP:0001654	Abnormal heart valve morphology	84464	SLX4	ORPHA:84
HP:0001654	Abnormal heart valve morphology	2072	ERCC4	ORPHA:84
HP:0001654	Abnormal heart valve morphology	55215	FANCI	ORPHA:84
HP:0001654	Abnormal heart valve morphology	118856	MMP21	OMIM:616749
HP:0001654	Abnormal heart valve morphology	9723	SEMA3E	ORPHA:138
HP:0001654	Abnormal heart valve morphology	673	BRAF	OMIM:613707
HP:0001654	Abnormal heart valve morphology	2717	GLA	ORPHA:324
HP:0001654	Abnormal heart valve morphology	151648	SGO1	OMIM:616201
HP:0001654	Abnormal heart valve morphology	8473	OGT	OMIM:300997
HP:0001654	Abnormal heart valve morphology	6873	TAF2	OMIM:615599
HP:0001654	Abnormal heart valve morphology	6873	TAF2	ORPHA:397951
HP:0001654	Abnormal heart valve morphology	4091	SMAD6	OMIM:614823
HP:0001654	Abnormal heart valve morphology	4091	SMAD6	ORPHA:402075
HP:0001654	Abnormal heart valve morphology	6650	CAPN15	OMIM:619318
HP:0001654	Abnormal heart valve morphology	3190	HNRNPK	ORPHA:453504
HP:0001654	Abnormal heart valve morphology	3190	HNRNPK	ORPHA:352665
HP:0001654	Abnormal heart valve morphology	10743	RAI1	ORPHA:477817
HP:0001654	Abnormal heart valve morphology	1387	CREBBP	ORPHA:353281
HP:0001654	Abnormal heart valve morphology	1387	CREBBP	ORPHA:353277
HP:0001654	Abnormal heart valve morphology	4854	NOTCH3	OMIM:130720
HP:0001654	Abnormal heart valve morphology	3020	H3-3A	OMIM:619720
HP:0001654	Abnormal heart valve morphology	3021	H3-3B	OMIM:619721
HP:0001654	Abnormal heart valve morphology	55784	MCTP2	ORPHA:1596
HP:0001654	Abnormal heart valve morphology	55690	PACS1	OMIM:615009
HP:0001654	Abnormal heart valve morphology	55690	PACS1	ORPHA:329224
HP:0001654	Abnormal heart valve morphology	2201	FBN2	OMIM:121050
HP:0001654	Abnormal heart valve morphology	2033	EP300	ORPHA:353284
HP:0001654	Abnormal heart valve morphology	9126	SMC3	OMIM:610759
HP:0001654	Abnormal heart valve morphology	55249	YY1AP1	OMIM:602531
HP:0001654	Abnormal heart valve morphology	51816	ADA2	OMIM:182410
HP:0001654	Abnormal heart valve morphology	284058	KANSL1	ORPHA:363958
HP:0001654	Abnormal heart valve morphology	284058	KANSL1	ORPHA:363965
HP:0001654	Abnormal heart valve morphology	284058	KANSL1	OMIM:610443
HP:0001654	Abnormal heart valve morphology	8260	NAA10	OMIM:300855
HP:0001654	Abnormal heart valve morphology	8260	NAA10	OMIM:309800
HP:0001654	Abnormal heart valve morphology	64359	NXN	OMIM:618529
HP:0001654	Abnormal heart valve morphology	4629	MYH11	OMIM:132900
HP:0001654	Abnormal heart valve morphology	4629	MYH11	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	55764	IFT122	OMIM:218330
HP:0001654	Abnormal heart valve morphology	4313	MMP2	ORPHA:371428
HP:0001654	Abnormal heart valve morphology	4323	MMP14	ORPHA:371428
HP:0001654	Abnormal heart valve morphology	9839	ZEB2	ORPHA:261552
HP:0001654	Abnormal heart valve morphology	9839	ZEB2	ORPHA:261537
HP:0001654	Abnormal heart valve morphology	4015	LOX	OMIM:617168
HP:0001654	Abnormal heart valve morphology	4015	LOX	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	54538	ROBO4	OMIM:618496
HP:0001654	Abnormal heart valve morphology	60	ACTB	OMIM:243310
HP:0001654	Abnormal heart valve morphology	7490	WT1	OMIM:608978
HP:0001654	Abnormal heart valve morphology	8493	PPM1D	OMIM:617450
HP:0001654	Abnormal heart valve morphology	54880	BCOR	OMIM:309800
HP:0001654	Abnormal heart valve morphology	5977	DPF2	OMIM:618027
HP:0001654	Abnormal heart valve morphology	6711	SPTBN1	OMIM:619475
HP:0001654	Abnormal heart valve morphology	92002	CCNQ	OMIM:300707
HP:0001654	Abnormal heart valve morphology	29957	SLC25A24	OMIM:612289
HP:0001654	Abnormal heart valve morphology	1909	EDNRA	OMIM:616367
HP:0001654	Abnormal heart valve morphology	57514	ARHGAP31	OMIM:100300
HP:0001654	Abnormal heart valve morphology	6154	RPL26	OMIM:614900
HP:0001654	Abnormal heart valve morphology	6804	STX1A	ORPHA:904
HP:0001654	Abnormal heart valve morphology	7461	CLIP2	ORPHA:904
HP:0001654	Abnormal heart valve morphology	84277	DNAJC30	ORPHA:904
HP:0001654	Abnormal heart valve morphology	8468	FKBP6	ORPHA:904
HP:0001654	Abnormal heart valve morphology	5982	RFC2	ORPHA:904
HP:0001654	Abnormal heart valve morphology	2969	GTF2I	ORPHA:904
HP:0001654	Abnormal heart valve morphology	3984	LIMK1	ORPHA:904
HP:0001654	Abnormal heart valve morphology	9569	GTF2IRD1	ORPHA:904
HP:0001654	Abnormal heart valve morphology	155382	VPS37D	ORPHA:904
HP:0001654	Abnormal heart valve morphology	155368	METTL27	ORPHA:904
HP:0001654	Abnormal heart valve morphology	114049	BUD23	ORPHA:904
HP:0001654	Abnormal heart valve morphology	7458	EIF4H	ORPHA:904
HP:0001654	Abnormal heart valve morphology	84163	GTF2IRD2	ORPHA:904
HP:0001654	Abnormal heart valve morphology	9275	BCL7B	ORPHA:904
HP:0001654	Abnormal heart valve morphology	26608	TBL2	ORPHA:904
HP:0001654	Abnormal heart valve morphology	653361	NCF1	ORPHA:904
HP:0001654	Abnormal heart valve morphology	135886	TMEM270	ORPHA:904
HP:0001654	Abnormal heart valve morphology	9031	BAZ1B	ORPHA:904
HP:0001654	Abnormal heart valve morphology	79753	SNIP1	OMIM:614501
HP:0001654	Abnormal heart valve morphology	83475	DOHH	OMIM:620066
HP:0001654	Abnormal heart valve morphology	10060	ABCC9	OMIM:239850
HP:0001654	Abnormal heart valve morphology	54828	BCAS3	OMIM:619641
HP:0001654	Abnormal heart valve morphology	2222	FDFT1	OMIM:618156
HP:0001654	Abnormal heart valve morphology	4780	NFE2L2	OMIM:617744
HP:0001654	Abnormal heart valve morphology	2627	GATA6	OMIM:614475
HP:0001654	Abnormal heart valve morphology	9371	KIF3B	OMIM:618955
HP:0001654	Abnormal heart valve morphology	4851	NOTCH1	ORPHA:402075
HP:0001654	Abnormal heart valve morphology	4851	NOTCH1	OMIM:109730
HP:0001654	Abnormal heart valve morphology	140628	GATA5	ORPHA:402075
HP:0001654	Abnormal heart valve morphology	140628	GATA5	OMIM:617912
HP:0001654	Abnormal heart valve morphology	93649	MYOCD	OMIM:618719
HP:0001654	Abnormal heart valve morphology	126792	B3GALT6	OMIM:271640
HP:0001654	Abnormal heart valve morphology	51322	WAC	ORPHA:284169
HP:0001654	Abnormal heart valve morphology	5879	RAC1	OMIM:617751
HP:0001654	Abnormal heart valve morphology	5879	RAC1	ORPHA:500159
HP:0001654	Abnormal heart valve morphology	5528	PPP2R5D	ORPHA:457279
HP:0001654	Abnormal heart valve morphology	4088	SMAD3	OMIM:613795
HP:0001654	Abnormal heart valve morphology	4088	SMAD3	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	7048	TGFBR2	OMIM:610168
HP:0001654	Abnormal heart valve morphology	7048	TGFBR2	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	55191	NADSYN1	OMIM:618845
HP:0001654	Abnormal heart valve morphology	9469	CHST3	OMIM:245600
HP:0001654	Abnormal heart valve morphology	26229	B3GAT3	OMIM:245600
HP:0001654	Abnormal heart valve morphology	27161	AGO2	OMIM:619149
HP:0001654	Abnormal heart valve morphology	583	BBS2	OMIM:615981
HP:0001654	Abnormal heart valve morphology	2702	GJA5	OMIM:612474
HP:0001654	Abnormal heart valve morphology	2703	GJA8	OMIM:612474
HP:0001654	Abnormal heart valve morphology	867	CBL	OMIM:613563
HP:0001654	Abnormal heart valve morphology	79875	THSD4	OMIM:619825
HP:0001654	Abnormal heart valve morphology	9652	SKIC3	ORPHA:84064
HP:0001654	Abnormal heart valve morphology	6499	SKIC2	ORPHA:84064
HP:0001654	Abnormal heart valve morphology	6736	SRY	ORPHA:1772
HP:0001654	Abnormal heart valve morphology	7046	TGFBR1	OMIM:609192
HP:0001654	Abnormal heart valve morphology	7046	TGFBR1	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	7042	TGFB2	OMIM:614816
HP:0001654	Abnormal heart valve morphology	7042	TGFB2	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	4087	SMAD2	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	7043	TGFB3	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	4089	SMAD4	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	59	ACTA2	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	5592	PRKG1	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	2301	FOXE3	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	4144	MAT2A	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	23493	HEY2	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	8076	MFAP5	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	4638	MYLK	ORPHA:91387
HP:0001654	Abnormal heart valve morphology	58499	ZNF462	OMIM:618619
HP:0001654	Abnormal heart valve morphology	375	ARF1	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	4131	MAP1B	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	23327	NEDD4L	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	160418	TMTC3	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	10564	ARFGEF2	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	55780	ERMARD	ORPHA:98892
HP:0001654	Abnormal heart valve morphology	274	BIN1	ORPHA:169186
HP:0001654	Abnormal heart valve morphology	10290	SPEG	ORPHA:169186
HP:0001654	Abnormal heart valve morphology	6261	RYR1	ORPHA:169186
HP:0001654	Abnormal heart valve morphology	7273	TTN	ORPHA:169186
HP:0001654	Abnormal heart valve morphology	137814	NKX2-6	ORPHA:3384
HP:0001654	Abnormal heart valve morphology	23129	PLXND1	ORPHA:3384
HP:0001654	Abnormal heart valve morphology	6609	SMPD1	ORPHA:77293
HP:0001654	Abnormal heart valve morphology	3423	IDS	OMIM:309900
HP:0001654	Abnormal heart valve morphology	3423	IDS	ORPHA:217085
HP:0001654	Abnormal heart valve morphology	3423	IDS	ORPHA:217093
HP:0001654	Abnormal heart valve morphology	113189	CHST14	ORPHA:2953
HP:0001654	Abnormal heart valve morphology	29940	DSE	ORPHA:2953
HP:0001654	Abnormal heart valve morphology	2588	GALNS	OMIM:253000
HP:0001654	Abnormal heart valve morphology	2990	GUSB	OMIM:253220
HP:0001654	Abnormal heart valve morphology	2720	GLB1	OMIM:230500
HP:0001654	Abnormal heart valve morphology	5604	MAP2K1	ORPHA:1340
HP:0001654	Abnormal heart valve morphology	3845	KRAS	ORPHA:1340
HP:0001654	Abnormal heart valve morphology	5590	PRKCZ	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	2563	GABRD	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	23013	SPEN	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	8510	MMP23B	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	7798	LUZP1	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	10630	PDPN	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	3339	HSPG2	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	10277	UBE4B	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	8514	KCNAB2	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	473	RERE	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	63976	PRDM16	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	54897	CASZ1	ORPHA:1606
HP:0001654	Abnormal heart valve morphology	3425	IDUA	ORPHA:93473
HP:0001654	Abnormal heart valve morphology	3425	IDUA	ORPHA:93476
HP:0001654	Abnormal heart valve morphology	1776	DNASE1L3	ORPHA:36412
HP:0001654	Abnormal heart valve morphology	3081	HGD	ORPHA:56
HP:0001654	Abnormal heart valve morphology	5566	PRKACA	ORPHA:289
HP:0001654	Abnormal heart valve morphology	5567	PRKACB	ORPHA:289
HP:0001654	Abnormal heart valve morphology	2735	GLI1	ORPHA:289
HP:0001654	Abnormal heart valve morphology	2121	EVC	ORPHA:289
HP:0001654	Abnormal heart valve morphology	51626	DYNC2LI1	ORPHA:289
HP:0001654	Abnormal heart valve morphology	132884	EVC2	ORPHA:289
HP:0001654	Abnormal heart valve morphology	1281	COL3A1	ORPHA:286
HP:0001654	Abnormal heart valve morphology	2629	GBA1	ORPHA:77261
HP:0001654	Abnormal heart valve morphology	10815	CPLX1	ORPHA:280
HP:0001654	Abnormal heart valve morphology	54872	PIGG	ORPHA:280
HP:0001654	Abnormal heart valve morphology	7469	NELFA	ORPHA:280
HP:0001654	Abnormal heart valve morphology	1487	CTBP1	ORPHA:280
HP:0001654	Abnormal heart valve morphology	3954	LETM1	ORPHA:280
HP:0001654	Abnormal heart valve morphology	7468	NSD2	ORPHA:280
HP:0001654	Abnormal heart valve morphology	1278	COL1A2	ORPHA:230851
HP:0001654	Abnormal heart valve morphology	3764	KCNJ8	ORPHA:1517
HP:0001654	Abnormal heart valve morphology	9897	WASHC5	ORPHA:7
HP:0001654	Abnormal heart valve morphology	28952	CCDC22	ORPHA:7
HP:0001654	Abnormal heart valve morphology	55109	AGGF1	ORPHA:90308
HP:0001654	Abnormal heart valve morphology	4920	ROR2	ORPHA:1507
HP:0001654	Abnormal heart valve morphology	1277	COL1A1	ORPHA:287
HP:0001654	Abnormal heart valve morphology	1289	COL5A1	ORPHA:287
HP:0001654	Abnormal heart valve morphology	1290	COL5A2	ORPHA:287
HP:0001654	Abnormal heart valve morphology	7703	PCGF2	OMIM:618371
HP:0001654	Abnormal heart valve morphology	2260	FGFR1	ORPHA:2396
HP:0001654	Abnormal heart valve morphology	54539	NDUFB11	ORPHA:2556
HP:0001654	Abnormal heart valve morphology	1349	COX7B	ORPHA:2556
HP:0001654	Abnormal heart valve morphology	3052	HCCS	ORPHA:2556
HP:0001654	Abnormal heart valve morphology	23586	RIGI	OMIM:616298
HP:0001654	Abnormal heart valve morphology	64135	IFIH1	OMIM:182250
HP:0001654	Abnormal heart valve morphology	10568	SLC34A2	ORPHA:60025
HP:0001654	Abnormal heart valve morphology	10651	MTX2	OMIM:619127
HP:0001654	Abnormal heart valve morphology	51085	MLXIPL	OMIM:194050
HP:0001654	Abnormal heart valve morphology	2006	ELN	OMIM:194050
HP:0001654	Abnormal heart valve morphology	23118	TAB2	OMIM:614980
HP:0001654	Abnormal heart valve morphology	2324	FLT4	OMIM:618780
HP:0001654	Abnormal heart valve morphology	2200	FBN1	OMIM:154700
HP:0001654	Abnormal heart valve morphology	374654	KIF7	OMIM:200990
HP:0001654	Abnormal heart valve morphology	1654	DDX3X	OMIM:300958
HP:0001654	Abnormal heart valve morphology	10524	KAT5	OMIM:619103
HP:0001654	Abnormal heart valve morphology	374879	ZNF699	OMIM:619488
HP:0001654	Abnormal heart valve morphology	11128	POLR3A	ORPHA:3455
HP:0001654	Abnormal heart valve morphology	64132	XYLT2	OMIM:605822
HP:0001654	Abnormal heart valve morphology	22827	PUF60	ORPHA:508488
HP:0001654	Abnormal heart valve morphology	4784	NFIX	OMIM:602535
HP:0001654	Abnormal heart valve morphology	171019	ADAMTS19	OMIM:620067
HP:0001654	Abnormal heart valve morphology	145173	B3GLCT	ORPHA:709
HP:0001654	Abnormal heart valve morphology	5573	PRKAR1A	ORPHA:615
HP:0001654	Abnormal heart valve morphology	5573	PRKAR1A	OMIM:255960
HP:0001654	Abnormal heart valve morphology	1193	CLIC2	ORPHA:324410
HP:0001654	Abnormal heart valve morphology	57158	JPH2	OMIM:619492
HP:0001654	Abnormal heart valve morphology	7528	YY1	ORPHA:506358
HP:0001654	Abnormal heart valve morphology	4841	NONO	ORPHA:466791
HP:0001654	Abnormal heart valve morphology	2623	GATA1	OMIM:190685
HP:0001654	Abnormal heart valve morphology	7168	TPM1	OMIM:611878
HP:0001654	Abnormal heart valve morphology	158326	FREM1	OMIM:608980
HP:0001654	Abnormal heart valve morphology	5422	POLA1	OMIM:301030
HP:0001654	Abnormal heart valve morphology	9487	PIGL	ORPHA:3474
HP:0001654	Abnormal heart valve morphology	10128	LRPPRC	OMIM:220111
HP:0001654	Abnormal heart valve morphology	1482	NKX2-5	OMIM:614435
HP:0001654	Abnormal heart valve morphology	23007	PLCH1	OMIM:619895
HP:0001654	Abnormal heart valve morphology	7547	ZIC3	OMIM:306955
HP:0001654	Abnormal heart valve morphology	84231	TRAF7	OMIM:618164
HP:0001654	Abnormal heart valve morphology	2697	GJA1	ORPHA:2248
HP:0001654	Abnormal heart valve morphology	2783	GNB2	OMIM:619503
HP:0001654	Abnormal heart valve morphology	6597	SMARCA4	OMIM:614609
HP:0001654	Abnormal heart valve morphology	9772	TMEM94	OMIM:618316
HP:0001654	Abnormal heart valve morphology	4625	MYH7	ORPHA:1880
HP:0001654	Abnormal heart valve morphology	2316	FLNA	OMIM:314400
HP:0001654	Abnormal heart valve morphology	5337	PLD1	OMIM:212093
HP:0001654	Abnormal heart valve morphology	4613	MYCN	OMIM:164280
HP:0001654	Abnormal heart valve morphology	4613	MYCN	ORPHA:391641
HP:0001654	Abnormal heart valve morphology	54916	TMEM260	OMIM:617478
HP:0001654	Abnormal heart valve morphology	1312	COMT	ORPHA:567
HP:0001654	Abnormal heart valve morphology	221037	JMJD1C	ORPHA:567
HP:0001654	Abnormal heart valve morphology	2812	GP1BB	ORPHA:567
HP:0001654	Abnormal heart valve morphology	6239	RREB1	ORPHA:567
HP:0001654	Abnormal heart valve morphology	6899	TBX1	ORPHA:567
HP:0001654	Abnormal heart valve morphology	7290	HIRA	ORPHA:567
HP:0001654	Abnormal heart valve morphology	9632	SEC24C	ORPHA:567
HP:0001654	Abnormal heart valve morphology	7353	UFD1	ORPHA:567
HP:0001654	Abnormal heart valve morphology	421	ARVCF	ORPHA:567
HP:0001654	Abnormal heart valve morphology	745	MYRF	OMIM:618280
HP:0001654	Abnormal heart valve morphology	2294	FOXF1	OMIM:265380
HP:0001654	Abnormal heart valve morphology	55636	CHD7	OMIM:214800
HP:0001654	Abnormal heart valve morphology	6885	MAP3K7	OMIM:157800
HP:0001654	Abnormal heart valve morphology	1616	DAXX	ORPHA:100075
HP:0001654	Abnormal heart valve morphology	546	ATRX	ORPHA:100075
HP:0001654	Abnormal heart valve morphology	153642	ARSK	OMIM:619698
HP:0001654	Abnormal heart valve morphology	7148	TNXB	OMIM:606408
HP:0001655	Patent foramen ovale	9949	AMMECR1	OMIM:300990
HP:0001655	Patent foramen ovale	7528	YY1	ORPHA:506358
HP:0001655	Patent foramen ovale	7528	YY1	OMIM:617557
HP:0001655	Patent foramen ovale	2294	FOXF1	OMIM:265380
HP:0001655	Patent foramen ovale	10735	STAG2	OMIM:301043
HP:0001655	Patent foramen ovale	10617	STAMBP	OMIM:614261
HP:0001655	Patent foramen ovale	776	CACNA1D	OMIM:615474
HP:0001655	Patent foramen ovale	54892	NCAPG2	OMIM:618460
HP:0001655	Patent foramen ovale	8425	LTBP4	OMIM:613177
HP:0001655	Patent foramen ovale	1024	CDK8	OMIM:618748
HP:0001655	Patent foramen ovale	100151683	RNU4ATAC	OMIM:210710
HP:0001655	Patent foramen ovale	6885	MAP3K7	OMIM:617137
HP:0001655	Patent foramen ovale	6885	MAP3K7	OMIM:157800
HP:0001655	Patent foramen ovale	57539	WDR35	OMIM:613610
HP:0001655	Patent foramen ovale	4091	SMAD6	OMIM:614823
HP:0001655	Patent foramen ovale	10102	TSFM	OMIM:610505
HP:0001655	Patent foramen ovale	2627	GATA6	OMIM:600001
HP:0001655	Patent foramen ovale	2627	GATA6	ORPHA:2255
HP:0001655	Patent foramen ovale	27125	AFF4	ORPHA:444077
HP:0001655	Patent foramen ovale	27125	AFF4	OMIM:616368
HP:0001655	Patent foramen ovale	10743	RAI1	ORPHA:477817
HP:0001655	Patent foramen ovale	9578	CDC42BPB	OMIM:619841
HP:0001655	Patent foramen ovale	2623	GATA1	OMIM:190685
HP:0001655	Patent foramen ovale	29998	BICRA	OMIM:619325
HP:0001655	Patent foramen ovale	5649	RELN	ORPHA:89844
HP:0001655	Patent foramen ovale	10300	KATNB1	ORPHA:89844
HP:0001655	Patent foramen ovale	54820	NDE1	ORPHA:89844
HP:0001655	Patent foramen ovale	51506	UFC1	OMIM:618076
HP:0001655	Patent foramen ovale	55790	CSGALNACT1	OMIM:618870
HP:0001655	Patent foramen ovale	6392	SDHD	OMIM:619167
HP:0001655	Patent foramen ovale	473	RERE	OMIM:616975
HP:0001655	Patent foramen ovale	3313	HSPA9	OMIM:616854
HP:0001655	Patent foramen ovale	55215	FANCI	OMIM:609053
HP:0001655	Patent foramen ovale	23291	FBXW11	OMIM:618914
HP:0001655	Patent foramen ovale	55690	PACS1	OMIM:615009
HP:0001655	Patent foramen ovale	55690	PACS1	ORPHA:329224
HP:0001655	Patent foramen ovale	2033	EP300	ORPHA:353284
HP:0001655	Patent foramen ovale	2033	EP300	OMIM:180849
HP:0001655	Patent foramen ovale	9200	HACD1	OMIM:619967
HP:0001655	Patent foramen ovale	7086	TKT	ORPHA:488618
HP:0001655	Patent foramen ovale	7086	TKT	OMIM:617044
HP:0001655	Patent foramen ovale	7547	ZIC3	OMIM:306955
HP:0001655	Patent foramen ovale	79158	GNPTAB	ORPHA:576
HP:0001655	Patent foramen ovale	65082	VPS33A	ORPHA:505248
HP:0001655	Patent foramen ovale	4001	LMNB1	OMIM:619179
HP:0001655	Patent foramen ovale	51434	ANAPC7	OMIM:619699
HP:0001655	Patent foramen ovale	8260	NAA10	OMIM:300855
HP:0001655	Patent foramen ovale	2316	FLNA	ORPHA:88630
HP:0001655	Patent foramen ovale	5119	CHMP1A	OMIM:614961
HP:0001655	Patent foramen ovale	201163	FLCN	OMIM:610883
HP:0001655	Patent foramen ovale	51008	ASCC1	OMIM:616867
HP:0001655	Patent foramen ovale	9325	TRIP4	OMIM:616866
HP:0001655	Patent foramen ovale	29940	DSE	OMIM:615539
HP:0001655	Patent foramen ovale	23389	MED13L	ORPHA:369891
HP:0001655	Patent foramen ovale	23389	MED13L	OMIM:616789
HP:0001655	Patent foramen ovale	7080	NKX2-1	ORPHA:209905
HP:0001655	Patent foramen ovale	79087	ALG12	OMIM:607143
HP:0001655	Patent foramen ovale	79087	ALG12	ORPHA:79324
HP:0001655	Patent foramen ovale	222663	SCUBE3	OMIM:619184
HP:0001655	Patent foramen ovale	26276	VPS33B	OMIM:208085
HP:0001655	Patent foramen ovale	4763	NF1	ORPHA:363700
HP:0001655	Patent foramen ovale	22884	WDR37	OMIM:618652
HP:0001655	Patent foramen ovale	23028	KDM1A	ORPHA:477993
HP:0001655	Patent foramen ovale	1656	DDX6	OMIM:618653
HP:0001655	Patent foramen ovale	1301	COL11A1	OMIM:228520
HP:0001655	Patent foramen ovale	8802	SUCLG1	ORPHA:17
HP:0001655	Patent foramen ovale	1822	ATN1	OMIM:618494
HP:0001655	Patent foramen ovale	55148	UBR7	OMIM:619189
HP:0001655	Patent foramen ovale	1482	NKX2-5	OMIM:225250
HP:0001655	Patent foramen ovale	6638	SNRPN	ORPHA:177907
HP:0001655	Patent foramen ovale	26227	PHGDH	OMIM:256520
HP:0001655	Patent foramen ovale	5337	PLD1	OMIM:212093
HP:0001655	Patent foramen ovale	6772	STAT1	ORPHA:391487
HP:0001655	Patent foramen ovale	10043	TOM1	ORPHA:391487
HP:0001655	Patent foramen ovale	5977	DPF2	OMIM:618027
HP:0001655	Patent foramen ovale	10526	IPO8	OMIM:619472
HP:0001655	Patent foramen ovale	1763	DNA2	OMIM:615156
HP:0001655	Patent foramen ovale	23126	POGZ	OMIM:616364
HP:0001655	Patent foramen ovale	54914	FOCAD	OMIM:619991
HP:0001655	Patent foramen ovale	11222	MRPL3	OMIM:614582
HP:0001655	Patent foramen ovale	1387	CREBBP	OMIM:180849
HP:0001655	Patent foramen ovale	1387	CREBBP	ORPHA:353277
HP:0001655	Patent foramen ovale	92002	CCNQ	OMIM:300707
HP:0001655	Patent foramen ovale	91461	PKDCC	OMIM:618821
HP:0001655	Patent foramen ovale	3845	KRAS	OMIM:609942
HP:0001655	Patent foramen ovale	8085	KMT2D	OMIM:620186
HP:0001655	Patent foramen ovale	10681	GNB5	OMIM:617182
HP:0001655	Patent foramen ovale	10681	GNB5	ORPHA:542306
HP:0001655	Patent foramen ovale	23556	PIGN	ORPHA:280633
HP:0001655	Patent foramen ovale	285590	SH3PXD2B	OMIM:249420
HP:0001655	Patent foramen ovale	374879	ZNF699	OMIM:619488
HP:0001655	Patent foramen ovale	55617	TASP1	OMIM:618950
HP:0001655	Patent foramen ovale	4841	NONO	OMIM:300967
HP:0001655	Patent foramen ovale	4841	NONO	ORPHA:466791
HP:0001655	Patent foramen ovale	10651	MTX2	OMIM:619127
HP:0001655	Patent foramen ovale	1857	DVL3	OMIM:616894
HP:0001655	Patent foramen ovale	57057	TBX20	OMIM:611363
HP:0001655	Patent foramen ovale	5500	PPP1CB	OMIM:617506
HP:0001655	Patent foramen ovale	9739	SETD1A	OMIM:618832
HP:0001655	Patent foramen ovale	9772	TMEM94	OMIM:618316
HP:0001655	Patent foramen ovale	7291	TWIST1	OMIM:617746
HP:0001655	Patent foramen ovale	100506658	OCLN	OMIM:251290
HP:0001655	Patent foramen ovale	79971	WLS	OMIM:619648
HP:0001655	Patent foramen ovale	118924	FRA10AC1	OMIM:620113
HP:0001655	Patent foramen ovale	10430	TMEM147	OMIM:620075
HP:0001655	Patent foramen ovale	9968	MED12	OMIM:301068
HP:0001655	Patent foramen ovale	6123	RPL3L	OMIM:619371
HP:0001655	Patent foramen ovale	775	CACNA1C	OMIM:601005
HP:0001655	Patent foramen ovale	79989	IFT56	OMIM:619534
HP:0001655	Patent foramen ovale	5528	PPP2R5D	ORPHA:457279
HP:0001655	Patent foramen ovale	89970	RSPRY1	ORPHA:457395
HP:0001655	Patent foramen ovale	57479	PRR12	OMIM:619539
HP:0001655	Patent foramen ovale	4851	NOTCH1	OMIM:616028
HP:0001655	Patent foramen ovale	5879	RAC1	ORPHA:500159
HP:0001655	Patent foramen ovale	5557	PRIM1	OMIM:620005
HP:0001655	Patent foramen ovale	55901	THSD1	OMIM:620244
HP:0001655	Patent foramen ovale	9896	FIG4	OMIM:216340
HP:0001655	Patent foramen ovale	37	ACADVL	ORPHA:26793
HP:0001655	Patent foramen ovale	9469	CHST3	OMIM:245600
HP:0001655	Patent foramen ovale	26229	B3GAT3	OMIM:245600
HP:0001655	Patent foramen ovale	55181	SMG8	OMIM:619268
HP:0001655	Patent foramen ovale	8295	TRRAP	OMIM:618454
HP:0001655	Patent foramen ovale	27161	AGO2	OMIM:619149
HP:0001655	Patent foramen ovale	54101	RIPK4	OMIM:263650
HP:0001655	Patent foramen ovale	7043	TGFB3	OMIM:615582
HP:0001655	Patent foramen ovale	4281	MID1	ORPHA:2745
HP:0001655	Patent foramen ovale	529	ATP6V1E1	OMIM:617402
HP:0001655	Patent foramen ovale	7319	UBE2A	ORPHA:163956
HP:0001655	Patent foramen ovale	100128908	CIROP	OMIM:619702
HP:0001655	Patent foramen ovale	3480	IGF1R	OMIM:270450
HP:0001655	Patent foramen ovale	6888	TALDO1	OMIM:606003
HP:0001657	Prolonged QT interval	1798	DPAGT1	ORPHA:86309
HP:0001657	Prolonged QT interval	6535	SLC6A8	OMIM:300352
HP:0001657	Prolonged QT interval	29925	GMPPB	OMIM:615351
HP:0001657	Prolonged QT interval	9992	KCNE2	OMIM:613693
HP:0001657	Prolonged QT interval	253017	TECRL	OMIM:614021
HP:0001657	Prolonged QT interval	801	CALM1	OMIM:616247
HP:0001657	Prolonged QT interval	775	CACNA1C	OMIM:620029
HP:0001657	Prolonged QT interval	775	CACNA1C	OMIM:601005
HP:0001657	Prolonged QT interval	6261	RYR1	ORPHA:466650
HP:0001657	Prolonged QT interval	2778	GNAS	ORPHA:94089
HP:0001657	Prolonged QT interval	2778	GNAS	ORPHA:79443
HP:0001657	Prolonged QT interval	2778	GNAS	ORPHA:79444
HP:0001657	Prolonged QT interval	8675	STX16	ORPHA:94089
HP:0001657	Prolonged QT interval	100134444	KCNJ18	ORPHA:79102
HP:0001657	Prolonged QT interval	2556	GABRA3	ORPHA:79102
HP:0001657	Prolonged QT interval	779	CACNA1S	ORPHA:79102
HP:0001657	Prolonged QT interval	3784	KCNQ1	OMIM:192500
HP:0001657	Prolonged QT interval	3784	KCNQ1	OMIM:220400
HP:0001657	Prolonged QT interval	10345	TRDN	OMIM:615441
HP:0001657	Prolonged QT interval	287	ANK2	OMIM:600919
HP:0001657	Prolonged QT interval	131118	DNAJC19	OMIM:610198
HP:0001657	Prolonged QT interval	131118	DNAJC19	ORPHA:66634
HP:0001657	Prolonged QT interval	3033	HADH	ORPHA:71212
HP:0001657	Prolonged QT interval	6331	SCN5A	OMIM:608567
HP:0001657	Prolonged QT interval	7139	TNNT2	OMIM:601494
HP:0001657	Prolonged QT interval	54795	TRPM4	OMIM:604559
HP:0001657	Prolonged QT interval	2239	GPC4	ORPHA:373
HP:0001657	Prolonged QT interval	2719	GPC3	ORPHA:373
HP:0001657	Prolonged QT interval	8929	PHOX2B	ORPHA:2151
HP:0001657	Prolonged QT interval	3753	KCNE1	OMIM:612347
HP:0001657	Prolonged QT interval	3759	KCNJ2	OMIM:170390
HP:0001657	Prolonged QT interval	3759	KCNJ2	ORPHA:37553
HP:0001657	Prolonged QT interval	128989	TANGO2	ORPHA:480864
HP:0001657	Prolonged QT interval	6330	SCN4B	OMIM:611819
HP:0001657	Prolonged QT interval	37	ACADVL	ORPHA:26793
HP:0001657	Prolonged QT interval	859	CAV3	OMIM:611818
HP:0001657	Prolonged QT interval	57538	ALPK3	OMIM:618052
HP:0001657	Prolonged QT interval	5718	PSMD12	ORPHA:529962
HP:0001657	Prolonged QT interval	2186	BPTF	ORPHA:529962
HP:0001657	Prolonged QT interval	3752	KCND3	OMIM:616399
HP:0001657	Prolonged QT interval	6736	SRY	ORPHA:1772
HP:0001657	Prolonged QT interval	144245	ALG10B	OMIM:613688
HP:0001657	Prolonged QT interval	3757	KCNH2	OMIM:613688
HP:0001657	Prolonged QT interval	6559	SLC12A3	OMIM:263800
HP:0001657	Prolonged QT interval	6559	SLC12A3	ORPHA:358
HP:0001657	Prolonged QT interval	284119	CAVIN1	OMIM:613327
HP:0001657	Prolonged QT interval	3762	KCNJ5	ORPHA:251274
HP:0001657	Prolonged QT interval	3762	KCNJ5	ORPHA:37553
HP:0001657	Prolonged QT interval	1188	CLCNKB	ORPHA:358
HP:0001657	Prolonged QT interval	805	CALM2	ORPHA:101016
HP:0001657	Prolonged QT interval	805	CALM2	OMIM:616249
HP:0001657	Prolonged QT interval	6910	TBX5	ORPHA:101016
HP:0001657	Prolonged QT interval	6336	SCN10A	ORPHA:101016
HP:0001657	Prolonged QT interval	10142	AKAP9	ORPHA:101016
HP:0001657	Prolonged QT interval	10142	AKAP9	OMIM:611820
HP:0001657	Prolonged QT interval	9722	NOS1AP	ORPHA:101016
HP:0001657	Prolonged QT interval	808	CALM3	ORPHA:101016
HP:0001657	Prolonged QT interval	808	CALM3	OMIM:618782
HP:0001657	Prolonged QT interval	6640	SNTA1	ORPHA:101016
HP:0001657	Prolonged QT interval	6640	SNTA1	OMIM:612955
HP:0001657	Prolonged QT interval	3741	KCNA5	OMIM:612240
HP:0001657	Prolonged QT interval	6840	SVIL	OMIM:619040
HP:0001657	Prolonged QT interval	10021	HCN4	OMIM:163800
HP:0001657	Prolonged QT interval	2318	FLNC	OMIM:617047
HP:0001657	Prolonged QT interval	51086	TNNI3K	OMIM:616117
HP:0001657	Prolonged QT interval	4204	MECP2	OMIM:312750
HP:0001658	Myocardial infarction	3717	JAK2	OMIM:133100
HP:0001658	Myocardial infarction	3717	JAK2	ORPHA:3318
HP:0001658	Myocardial infarction	10019	SH2B3	OMIM:133100
HP:0001658	Myocardial infarction	10019	SH2B3	ORPHA:3318
HP:0001658	Myocardial infarction	2057	EPOR	OMIM:133100
HP:0001658	Myocardial infarction	63036	CELA2A	OMIM:618620
HP:0001658	Myocardial infarction	6340	SCNN1G	ORPHA:60033
HP:0001658	Myocardial infarction	1080	CFTR	ORPHA:60033
HP:0001658	Myocardial infarction	6337	SCNN1A	ORPHA:60033
HP:0001658	Myocardial infarction	6338	SCNN1B	ORPHA:60033
HP:0001658	Myocardial infarction	19	ABCA1	OMIM:604091
HP:0001658	Myocardial infarction	19	ABCA1	OMIM:205400
HP:0001658	Myocardial infarction	1593	CYP27A1	OMIM:213700
HP:0001658	Myocardial infarction	6804	STX1A	ORPHA:904
HP:0001658	Myocardial infarction	7461	CLIP2	ORPHA:904
HP:0001658	Myocardial infarction	84277	DNAJC30	ORPHA:904
HP:0001658	Myocardial infarction	8468	FKBP6	ORPHA:904
HP:0001658	Myocardial infarction	5982	RFC2	ORPHA:904
HP:0001658	Myocardial infarction	2969	GTF2I	ORPHA:904
HP:0001658	Myocardial infarction	3984	LIMK1	ORPHA:904
HP:0001658	Myocardial infarction	9569	GTF2IRD1	ORPHA:904
HP:0001658	Myocardial infarction	155382	VPS37D	ORPHA:904
HP:0001658	Myocardial infarction	155368	METTL27	ORPHA:904
HP:0001658	Myocardial infarction	114049	BUD23	ORPHA:904
HP:0001658	Myocardial infarction	7458	EIF4H	ORPHA:904
HP:0001658	Myocardial infarction	84163	GTF2IRD2	ORPHA:904
HP:0001658	Myocardial infarction	9275	BCL7B	ORPHA:904
HP:0001658	Myocardial infarction	26608	TBL2	ORPHA:904
HP:0001658	Myocardial infarction	653361	NCF1	ORPHA:904
HP:0001658	Myocardial infarction	135886	TMEM270	ORPHA:904
HP:0001658	Myocardial infarction	51085	MLXIPL	ORPHA:904
HP:0001658	Myocardial infarction	9031	BAZ1B	ORPHA:904
HP:0001658	Myocardial infarction	2006	ELN	ORPHA:904
HP:0001658	Myocardial infarction	81031	SLC2A10	ORPHA:3342
HP:0001658	Myocardial infarction	4000	LMNA	OMIM:176670
HP:0001658	Myocardial infarction	4000	LMNA	ORPHA:740
HP:0001658	Myocardial infarction	7486	WRN	ORPHA:902
HP:0001658	Myocardial infarction	5781	PTPN11	ORPHA:500
HP:0001658	Myocardial infarction	673	BRAF	ORPHA:500
HP:0001658	Myocardial infarction	673	BRAF	ORPHA:96253
HP:0001658	Myocardial infarction	673	BRAF	ORPHA:54595
HP:0001658	Myocardial infarction	5894	RAF1	ORPHA:500
HP:0001658	Myocardial infarction	4040	LRP6	OMIM:610947
HP:0001658	Myocardial infarction	4210	MEFV	ORPHA:342
HP:0001658	Myocardial infarction	4210	MEFV	ORPHA:117
HP:0001658	Myocardial infarction	10269	ZMPSTE24	ORPHA:740
HP:0001658	Myocardial infarction	368	ABCC6	OMIM:614473
HP:0001658	Myocardial infarction	11093	ADAMTS13	OMIM:274150
HP:0001658	Myocardial infarction	3662	IRF4	ORPHA:3452
HP:0001658	Myocardial infarction	4205	MEF2A	OMIM:608320
HP:0001658	Myocardial infarction	3949	LDLR	ORPHA:391665
HP:0001658	Myocardial infarction	255738	PCSK9	ORPHA:391665
HP:0001658	Myocardial infarction	26119	LDLRAP1	ORPHA:391665
HP:0001658	Myocardial infarction	338	APOB	ORPHA:391665
HP:0001658	Myocardial infarction	64240	ABCG5	ORPHA:391665
HP:0001658	Myocardial infarction	64241	ABCG8	ORPHA:391665
HP:0001658	Myocardial infarction	7428	VHL	ORPHA:892
HP:0001658	Myocardial infarction	595	CCND1	ORPHA:892
HP:0001658	Myocardial infarction	84196	USP48	ORPHA:96253
HP:0001658	Myocardial infarction	7157	TP53	ORPHA:96253
HP:0001658	Myocardial infarction	7157	TP53	ORPHA:3318
HP:0001658	Myocardial infarction	9101	USP8	ORPHA:96253
HP:0001658	Myocardial infarction	64072	CDH23	ORPHA:96253
HP:0001658	Myocardial infarction	2908	NR3C1	ORPHA:96253
HP:0001658	Myocardial infarction	546	ATRX	ORPHA:96253
HP:0001658	Myocardial infarction	590	BCHE	ORPHA:132
HP:0001658	Myocardial infarction	3106	HLA-B	ORPHA:36426
HP:0001658	Myocardial infarction	3106	HLA-B	ORPHA:3287
HP:0001658	Myocardial infarction	3106	HLA-B	ORPHA:117
HP:0001658	Myocardial infarction	10320	IKZF1	ORPHA:36426
HP:0001658	Myocardial infarction	2717	GLA	OMIM:301500
HP:0001658	Myocardial infarction	9149	DYRK1B	OMIM:615812
HP:0001658	Myocardial infarction	875	CBS	OMIM:236200
HP:0001658	Myocardial infarction	3593	IL12B	ORPHA:3287
HP:0001658	Myocardial infarction	6945	MLX	ORPHA:3287
HP:0001658	Myocardial infarction	5277	PIGA	ORPHA:447
HP:0001658	Myocardial infarction	3081	HGD	ORPHA:56
HP:0001658	Myocardial infarction	4627	MYH9	OMIM:155100
HP:0001658	Myocardial infarction	4627	MYH9	ORPHA:182050
HP:0001658	Myocardial infarction	5167	ENPP1	OMIM:208000
HP:0001658	Myocardial infarction	811	CALR	ORPHA:3318
HP:0001658	Myocardial infarction	4352	MPL	ORPHA:3318
HP:0001658	Myocardial infarction	54790	TET2	ORPHA:3318
HP:0001658	Myocardial infarction	84984	CEP19	OMIM:615703
HP:0001658	Myocardial infarction	57187	THOC2	ORPHA:457240
HP:0001658	Myocardial infarction	4023	LPL	OMIM:144250
HP:0001658	Myocardial infarction	149233	IL23R	ORPHA:117
HP:0001658	Myocardial infarction	6775	STAT4	ORPHA:117
HP:0001658	Myocardial infarction	3586	IL10	ORPHA:117
HP:0001658	Myocardial infarction	1230	CCR1	ORPHA:117
HP:0001658	Myocardial infarction	355	FAS	ORPHA:117
HP:0001658	Myocardial infarction	3592	IL12A	ORPHA:117
HP:0001658	Myocardial infarction	101928376	IL12A-AS1	ORPHA:117
HP:0001658	Myocardial infarction	7099	TLR4	ORPHA:117
HP:0001658	Myocardial infarction	3459	IFNGR1	ORPHA:117
HP:0001658	Myocardial infarction	720	C4A	ORPHA:117
HP:0001658	Myocardial infarction	337867	UBAC2	ORPHA:117
HP:0001658	Myocardial infarction	51752	ERAP1	ORPHA:117
HP:0001658	Myocardial infarction	8302	KLRC4	ORPHA:117
HP:0001658	Myocardial infarction	1499	CTNNB1	ORPHA:54595
HP:0001659	Aortic regurgitation	375	ARF1	ORPHA:98892
HP:0001659	Aortic regurgitation	4131	MAP1B	ORPHA:98892
HP:0001659	Aortic regurgitation	2316	FLNA	ORPHA:98892
HP:0001659	Aortic regurgitation	2316	FLNA	OMIM:314400
HP:0001659	Aortic regurgitation	2316	FLNA	ORPHA:555877
HP:0001659	Aortic regurgitation	23327	NEDD4L	ORPHA:98892
HP:0001659	Aortic regurgitation	160418	TMTC3	ORPHA:98892
HP:0001659	Aortic regurgitation	10564	ARFGEF2	ORPHA:98892
HP:0001659	Aortic regurgitation	55780	ERMARD	ORPHA:98892
HP:0001659	Aortic regurgitation	4088	SMAD3	ORPHA:284984
HP:0001659	Aortic regurgitation	4088	SMAD3	ORPHA:91387
HP:0001659	Aortic regurgitation	22827	PUF60	ORPHA:508498
HP:0001659	Aortic regurgitation	8036	SHOC2	OMIM:607721
HP:0001659	Aortic regurgitation	137814	NKX2-6	ORPHA:3384
HP:0001659	Aortic regurgitation	23129	PLXND1	ORPHA:3384
HP:0001659	Aortic regurgitation	23118	TAB2	OMIM:614980
HP:0001659	Aortic regurgitation	1859	DYRK1A	ORPHA:268261
HP:0001659	Aortic regurgitation	1859	DYRK1A	ORPHA:464311
HP:0001659	Aortic regurgitation	1278	COL1A2	OMIM:225320
HP:0001659	Aortic regurgitation	1278	COL1A2	ORPHA:230851
HP:0001659	Aortic regurgitation	6711	SPTBN1	OMIM:619475
HP:0001659	Aortic regurgitation	26128	KIFBP	OMIM:609460
HP:0001659	Aortic regurgitation	23334	SZT2	OMIM:615476
HP:0001659	Aortic regurgitation	5828	PEX2	OMIM:614866
HP:0001659	Aortic regurgitation	4091	SMAD6	OMIM:614823
HP:0001659	Aortic regurgitation	4091	SMAD6	ORPHA:402075
HP:0001659	Aortic regurgitation	5832	ALDH18A1	OMIM:616603
HP:0001659	Aortic regurgitation	5832	ALDH18A1	ORPHA:90348
HP:0001659	Aortic regurgitation	3425	IDUA	ORPHA:93474
HP:0001659	Aortic regurgitation	3425	IDUA	OMIM:607014
HP:0001659	Aortic regurgitation	3425	IDUA	OMIM:607016
HP:0001659	Aortic regurgitation	3425	IDUA	OMIM:607015
HP:0001659	Aortic regurgitation	4629	MYH11	ORPHA:229
HP:0001659	Aortic regurgitation	4629	MYH11	OMIM:132900
HP:0001659	Aortic regurgitation	4629	MYH11	ORPHA:91387
HP:0001659	Aortic regurgitation	79813	EHMT1	ORPHA:96147
HP:0001659	Aortic regurgitation	171019	ADAMTS19	OMIM:620067
HP:0001659	Aortic regurgitation	2006	ELN	OMIM:123700
HP:0001659	Aortic regurgitation	2006	ELN	ORPHA:90348
HP:0001659	Aortic regurgitation	2006	ELN	ORPHA:91387
HP:0001659	Aortic regurgitation	83475	DOHH	OMIM:620066
HP:0001659	Aortic regurgitation	55027	HEATR3	OMIM:620072
HP:0001659	Aortic regurgitation	10021	HCN4	OMIM:163800
HP:0001659	Aortic regurgitation	4125	MAN2B1	ORPHA:309282
HP:0001659	Aortic regurgitation	4125	MAN2B1	ORPHA:309288
HP:0001659	Aortic regurgitation	4000	LMNA	ORPHA:740
HP:0001659	Aortic regurgitation	10269	ZMPSTE24	ORPHA:740
HP:0001659	Aortic regurgitation	113189	CHST14	OMIM:601776
HP:0001659	Aortic regurgitation	728294	D2HGDH	OMIM:600721
HP:0001659	Aortic regurgitation	3106	HLA-B	ORPHA:29207
HP:0001659	Aortic regurgitation	3106	HLA-B	OMIM:106300
HP:0001659	Aortic regurgitation	3106	HLA-B	ORPHA:117
HP:0001659	Aortic regurgitation	613	BCR	ORPHA:261330
HP:0001659	Aortic regurgitation	1399	CRKL	ORPHA:261330
HP:0001659	Aortic regurgitation	5594	MAPK1	ORPHA:261330
HP:0001659	Aortic regurgitation	6651	SON	OMIM:617140
HP:0001659	Aortic regurgitation	9702	CEP57	OMIM:614114
HP:0001659	Aortic regurgitation	9702	CEP57	ORPHA:1052
HP:0001659	Aortic regurgitation	92002	CCNQ	ORPHA:140952
HP:0001659	Aortic regurgitation	55249	YY1AP1	ORPHA:79094
HP:0001659	Aortic regurgitation	4851	NOTCH1	ORPHA:402075
HP:0001659	Aortic regurgitation	1482	NKX2-5	ORPHA:402075
HP:0001659	Aortic regurgitation	140628	GATA5	ORPHA:402075
HP:0001659	Aortic regurgitation	79158	GNPTAB	OMIM:252500
HP:0001659	Aortic regurgitation	79158	GNPTAB	ORPHA:576
HP:0001659	Aortic regurgitation	79158	GNPTAB	OMIM:252600
HP:0001659	Aortic regurgitation	113246	C12orf57	OMIM:218340
HP:0001659	Aortic regurgitation	10559	SLC35A1	OMIM:603585
HP:0001659	Aortic regurgitation	84572	GNPTG	OMIM:252605
HP:0001659	Aortic regurgitation	2626	GATA4	OMIM:607941
HP:0001659	Aortic regurgitation	153642	ARSK	OMIM:619698
HP:0001659	Aortic regurgitation	81031	SLC2A10	OMIM:208050
HP:0001659	Aortic regurgitation	79989	IFT56	OMIM:619534
HP:0001659	Aortic regurgitation	442721	LMOD2	OMIM:619897
HP:0001659	Aortic regurgitation	2200	FBN1	OMIM:154700
HP:0001659	Aortic regurgitation	2200	FBN1	ORPHA:91387
HP:0001659	Aortic regurgitation	9652	SKIC3	OMIM:222470
HP:0001659	Aortic regurgitation	9652	SKIC3	ORPHA:84064
HP:0001659	Aortic regurgitation	9469	CHST3	OMIM:143095
HP:0001659	Aortic regurgitation	388753	COA6	OMIM:616501
HP:0001659	Aortic regurgitation	10516	FBLN5	ORPHA:90348
HP:0001659	Aortic regurgitation	7703	PCGF2	OMIM:618371
HP:0001659	Aortic regurgitation	9184	BUB3	ORPHA:1052
HP:0001659	Aortic regurgitation	699	BUB1	ORPHA:1052
HP:0001659	Aortic regurgitation	9319	TRIP13	ORPHA:1052
HP:0001659	Aortic regurgitation	701	BUB1B	ORPHA:1052
HP:0001659	Aortic regurgitation	2702	GJA5	OMIM:612474
HP:0001659	Aortic regurgitation	2703	GJA8	OMIM:612474
HP:0001659	Aortic regurgitation	79875	THSD4	OMIM:619825
HP:0001659	Aortic regurgitation	6499	SKIC2	ORPHA:84064
HP:0001659	Aortic regurgitation	23590	PDSS1	OMIM:614651
HP:0001659	Aortic regurgitation	529	ATP6V1E1	OMIM:617402
HP:0001659	Aortic regurgitation	200734	SPRED2	OMIM:619745
HP:0001659	Aortic regurgitation	7046	TGFBR1	ORPHA:91387
HP:0001659	Aortic regurgitation	7048	TGFBR2	ORPHA:91387
HP:0001659	Aortic regurgitation	4015	LOX	ORPHA:91387
HP:0001659	Aortic regurgitation	4087	SMAD2	ORPHA:91387
HP:0001659	Aortic regurgitation	7043	TGFB3	ORPHA:91387
HP:0001659	Aortic regurgitation	7042	TGFB2	ORPHA:91387
HP:0001659	Aortic regurgitation	4089	SMAD4	ORPHA:91387
HP:0001659	Aortic regurgitation	59	ACTA2	ORPHA:91387
HP:0001659	Aortic regurgitation	5592	PRKG1	ORPHA:91387
HP:0001659	Aortic regurgitation	2301	FOXE3	ORPHA:91387
HP:0001659	Aortic regurgitation	4144	MAT2A	ORPHA:91387
HP:0001659	Aortic regurgitation	23493	HEY2	ORPHA:91387
HP:0001659	Aortic regurgitation	8076	MFAP5	ORPHA:91387
HP:0001659	Aortic regurgitation	4638	MYLK	ORPHA:91387
HP:0001659	Aortic regurgitation	149233	IL23R	ORPHA:117
HP:0001659	Aortic regurgitation	6775	STAT4	ORPHA:117
HP:0001659	Aortic regurgitation	3586	IL10	ORPHA:117
HP:0001659	Aortic regurgitation	4210	MEFV	ORPHA:117
HP:0001659	Aortic regurgitation	1230	CCR1	ORPHA:117
HP:0001659	Aortic regurgitation	355	FAS	ORPHA:117
HP:0001659	Aortic regurgitation	3592	IL12A	ORPHA:117
HP:0001659	Aortic regurgitation	101928376	IL12A-AS1	ORPHA:117
HP:0001659	Aortic regurgitation	7099	TLR4	ORPHA:117
HP:0001659	Aortic regurgitation	3459	IFNGR1	ORPHA:117
HP:0001659	Aortic regurgitation	720	C4A	ORPHA:117
HP:0001659	Aortic regurgitation	337867	UBAC2	ORPHA:117
HP:0001659	Aortic regurgitation	51752	ERAP1	ORPHA:117
HP:0001659	Aortic regurgitation	8302	KLRC4	ORPHA:117
HP:0003185	Short greater sciatic notch	2261	FGFR3	OMIM:187601
HP:0003185	Short greater sciatic notch	2261	FGFR3	ORPHA:1860
HP:0003185	Short greater sciatic notch	2261	FGFR3	OMIM:187600
HP:0003185	Short greater sciatic notch	2719	GPC3	OMIM:312870
HP:0003185	Short greater sciatic notch	2239	GPC4	OMIM:312870
HP:0003185	Short greater sciatic notch	1836	SLC26A2	OMIM:256050
HP:0003185	Short greater sciatic notch	59341	TRPV4	ORPHA:93314
HP:0008817	Aplastic pubic bone	7476	WNT7A	OMIM:276820
HP:0008819	Narrow femoral neck	1280	COL2A1	OMIM:609162
HP:0008819	Narrow femoral neck	3835	KIF22	OMIM:603546
HP:0008818	Large iliac wing	100151683	RNU4ATAC	ORPHA:2636
HP:0008818	Large iliac wing	538	ATP7A	ORPHA:198
HP:0008818	Large iliac wing	139285	AMER1	ORPHA:2780
HP:0008818	Large iliac wing	4089	SMAD4	ORPHA:2588
HP:0008818	Large iliac wing	126792	B3GALT6	OMIM:271640
HP:0011876	Abnormal platelet volume	2815	GP9	OMIM:231200
HP:0011876	Abnormal platelet volume	2815	GP9	ORPHA:274
HP:0011876	Abnormal platelet volume	2812	GP1BB	OMIM:231200
HP:0011876	Abnormal platelet volume	2812	GP1BB	ORPHA:274
HP:0011876	Abnormal platelet volume	3674	ITGA2B	OMIM:187800
HP:0011876	Abnormal platelet volume	10559	SLC35A1	ORPHA:238459
HP:0011876	Abnormal platelet volume	3930	LBR	OMIM:169400
HP:0011876	Abnormal platelet volume	948	CD36	OMIM:608404
HP:0011876	Abnormal platelet volume	9382	COG1	OMIM:611209
HP:0011876	Abnormal platelet volume	64241	ABCG8	OMIM:210250
HP:0011876	Abnormal platelet volume	2533	FYB1	OMIM:273900
HP:0011876	Abnormal platelet volume	7454	WAS	OMIM:301000
HP:0011876	Abnormal platelet volume	7454	WAS	OMIM:313900
HP:0011876	Abnormal platelet volume	10095	ARPC1B	OMIM:617718
HP:0011876	Abnormal platelet volume	54205	CYCS	OMIM:612004
HP:0011876	Abnormal platelet volume	22852	ANKRD26	OMIM:188000
HP:0011876	Abnormal platelet volume	9652	SKIC3	ORPHA:84064
HP:0011876	Abnormal platelet volume	9652	SKIC3	OMIM:222470
HP:0011876	Abnormal platelet volume	6499	SKIC2	ORPHA:84064
HP:0011876	Abnormal platelet volume	3690	ITGB3	OMIM:619271
HP:0011876	Abnormal platelet volume	998	CDC42	ORPHA:487796
HP:0011876	Abnormal platelet volume	998	CDC42	OMIM:616737
HP:0011876	Abnormal platelet volume	2811	GP1BA	OMIM:153670
HP:0011876	Abnormal platelet volume	4627	MYH9	ORPHA:182050
HP:0011876	Abnormal platelet volume	87	ACTN1	OMIM:615193
HP:0011876	Abnormal platelet volume	2316	FLNA	OMIM:300048
HP:0011876	Abnormal platelet volume	2313	FLI1	OMIM:617443
HP:0011876	Abnormal platelet volume	2623	GATA1	OMIM:314050
HP:0011876	Abnormal platelet volume	6309	SC5D	OMIM:607330
HP:0011876	Abnormal platelet volume	81027	TUBB1	OMIM:613112
HP:0011876	Abnormal platelet volume	1729	DIAPH1	OMIM:124900
HP:0011876	Abnormal platelet volume	51807	TUBA8	OMIM:619840
HP:0011876	Abnormal platelet volume	8328	GFI1B	OMIM:187900
HP:0011876	Abnormal platelet volume	5568	PRKACG	OMIM:616176
HP:0011877	Increased mean platelet volume	2815	GP9	OMIM:231200
HP:0011877	Increased mean platelet volume	2815	GP9	ORPHA:274
HP:0011877	Increased mean platelet volume	2812	GP1BB	OMIM:231200
HP:0011877	Increased mean platelet volume	2812	GP1BB	ORPHA:274
HP:0011877	Increased mean platelet volume	3674	ITGA2B	OMIM:187800
HP:0011877	Increased mean platelet volume	10559	SLC35A1	ORPHA:238459
HP:0011877	Increased mean platelet volume	3930	LBR	OMIM:169400
HP:0011877	Increased mean platelet volume	948	CD36	OMIM:608404
HP:0011877	Increased mean platelet volume	9382	COG1	OMIM:611209
HP:0011877	Increased mean platelet volume	64241	ABCG8	OMIM:210250
HP:0011877	Increased mean platelet volume	9652	SKIC3	ORPHA:84064
HP:0011877	Increased mean platelet volume	9652	SKIC3	OMIM:222470
HP:0011877	Increased mean platelet volume	6499	SKIC2	ORPHA:84064
HP:0011877	Increased mean platelet volume	3690	ITGB3	OMIM:619271
HP:0011877	Increased mean platelet volume	998	CDC42	ORPHA:487796
HP:0011877	Increased mean platelet volume	998	CDC42	OMIM:616737
HP:0011877	Increased mean platelet volume	2811	GP1BA	OMIM:153670
HP:0011877	Increased mean platelet volume	4627	MYH9	ORPHA:182050
HP:0011877	Increased mean platelet volume	87	ACTN1	OMIM:615193
HP:0011877	Increased mean platelet volume	2316	FLNA	OMIM:300048
HP:0011877	Increased mean platelet volume	2313	FLI1	OMIM:617443
HP:0011877	Increased mean platelet volume	2623	GATA1	OMIM:314050
HP:0011877	Increased mean platelet volume	6309	SC5D	OMIM:607330
HP:0011877	Increased mean platelet volume	81027	TUBB1	OMIM:613112
HP:0011877	Increased mean platelet volume	1729	DIAPH1	OMIM:124900
HP:0011877	Increased mean platelet volume	51807	TUBA8	OMIM:619840
HP:0011877	Increased mean platelet volume	8328	GFI1B	OMIM:187900
HP:0011877	Increased mean platelet volume	5568	PRKACG	OMIM:616176
HP:0011878	Abnormal platelet membrane protein expression	3674	ITGA2B	OMIM:273800
HP:0011878	Abnormal platelet membrane protein expression	3690	ITGB3	OMIM:619267
HP:0011878	Abnormal platelet membrane protein expression	2811	GP1BA	ORPHA:274
HP:0011878	Abnormal platelet membrane protein expression	2812	GP1BB	ORPHA:274
HP:0011878	Abnormal platelet membrane protein expression	2815	GP9	ORPHA:274
HP:0011878	Abnormal platelet membrane protein expression	10559	SLC35A1	OMIM:603585
HP:0011879	Decreased platelet glycoprotein Ib-IX-V	2811	GP1BA	ORPHA:274
HP:0011879	Decreased platelet glycoprotein Ib-IX-V	2812	GP1BB	ORPHA:274
HP:0011879	Decreased platelet glycoprotein Ib-IX-V	2815	GP9	ORPHA:274
HP:0011872	Impaired thrombin-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0011872	Impaired thrombin-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0011872	Impaired thrombin-induced platelet aggregation	23218	NBEAL2	OMIM:139090
HP:0011873	Abnormal platelet count	201595	STT3B	OMIM:615597
HP:0011873	Abnormal platelet count	201595	STT3B	ORPHA:370924
HP:0011873	Abnormal platelet count	22800	RRAS2	OMIM:618624
HP:0011873	Abnormal platelet count	1736	DKC1	OMIM:305000
HP:0011873	Abnormal platelet count	1736	DKC1	ORPHA:3322
HP:0011873	Abnormal platelet count	1736	DKC1	ORPHA:1775
HP:0011873	Abnormal platelet count	114803	MYSM1	ORPHA:508542
HP:0011873	Abnormal platelet count	114803	MYSM1	OMIM:618116
HP:0011873	Abnormal platelet count	2175	FANCA	OMIM:227650
HP:0011873	Abnormal platelet count	2175	FANCA	ORPHA:84
HP:0011873	Abnormal platelet count	2120	ETV6	OMIM:616216
HP:0011873	Abnormal platelet count	166378	AFG2A	OMIM:616577
HP:0011873	Abnormal platelet count	5184	PEPD	OMIM:170100
HP:0011873	Abnormal platelet count	65082	VPS33A	OMIM:617303
HP:0011873	Abnormal platelet count	65082	VPS33A	ORPHA:505248
HP:0011873	Abnormal platelet count	8526	DGKE	OMIM:615008
HP:0011873	Abnormal platelet count	2188	FANCF	OMIM:603467
HP:0011873	Abnormal platelet count	2188	FANCF	ORPHA:84
HP:0011873	Abnormal platelet count	8029	CUBN	ORPHA:35858
HP:0011873	Abnormal platelet count	81693	AMN	ORPHA:35858
HP:0011873	Abnormal platelet count	219285	SAMD9L	OMIM:159550
HP:0011873	Abnormal platelet count	219285	SAMD9L	OMIM:252270
HP:0011873	Abnormal platelet count	5155	PDGFB	ORPHA:1980
HP:0011873	Abnormal platelet count	9213	XPR1	ORPHA:1980
HP:0011873	Abnormal platelet count	5159	PDGFRB	ORPHA:1980
HP:0011873	Abnormal platelet count	57462	MYORG	ORPHA:1980
HP:0011873	Abnormal platelet count	6575	SLC20A2	ORPHA:1980
HP:0011873	Abnormal platelet count	58494	JAM2	ORPHA:1980
HP:0011873	Abnormal platelet count	1716	DGUOK	OMIM:251880
HP:0011873	Abnormal platelet count	1130	LYST	ORPHA:167
HP:0011873	Abnormal platelet count	1130	LYST	OMIM:214500
HP:0011873	Abnormal platelet count	26258	BLOC1S6	OMIM:614171
HP:0011873	Abnormal platelet count	7386	UQCRFS1	OMIM:618775
HP:0011873	Abnormal platelet count	5442	POLRMT	OMIM:619743
HP:0011873	Abnormal platelet count	2313	FLI1	OMIM:617443
HP:0011873	Abnormal platelet count	2313	FLI1	ORPHA:2308
HP:0011873	Abnormal platelet count	80739	MPIG6B	OMIM:617441
HP:0011873	Abnormal platelet count	56992	KIF15	OMIM:619981
HP:0011873	Abnormal platelet count	56992	KIF15	ORPHA:261323
HP:0011873	Abnormal platelet count	950	SCARB2	OMIM:254900
HP:0011873	Abnormal platelet count	950	SCARB2	ORPHA:77259
HP:0011873	Abnormal platelet count	3981	LIG4	ORPHA:235
HP:0011873	Abnormal platelet count	3981	LIG4	OMIM:606593
HP:0011873	Abnormal platelet count	54888	NSUN2	ORPHA:235
HP:0011873	Abnormal platelet count	9056	SLC7A7	ORPHA:470
HP:0011873	Abnormal platelet count	9056	SLC7A7	OMIM:222700
HP:0011873	Abnormal platelet count	3572	IL6ST	OMIM:619751
HP:0011873	Abnormal platelet count	54914	FOCAD	OMIM:619991
HP:0011873	Abnormal platelet count	57167	SALL4	OMIM:147750
HP:0011873	Abnormal platelet count	57167	SALL4	ORPHA:2307
HP:0011873	Abnormal platelet count	166785	MMAA	OMIM:251100
HP:0011873	Abnormal platelet count	64421	DCLRE1C	OMIM:603554
HP:0011873	Abnormal platelet count	5896	RAG1	OMIM:603554
HP:0011873	Abnormal platelet count	5896	RAG1	ORPHA:331206
HP:0011873	Abnormal platelet count	5897	RAG2	OMIM:603554
HP:0011873	Abnormal platelet count	5897	RAG2	ORPHA:331206
HP:0011873	Abnormal platelet count	5551	PRF1	OMIM:603553
HP:0011873	Abnormal platelet count	5551	PRF1	ORPHA:540
HP:0011873	Abnormal platelet count	5551	PRF1	ORPHA:88
HP:0011873	Abnormal platelet count	8676	STX11	OMIM:603552
HP:0011873	Abnormal platelet count	8676	STX11	ORPHA:540
HP:0011873	Abnormal platelet count	11234	HPS5	OMIM:614074
HP:0011873	Abnormal platelet count	57169	ZNFX1	OMIM:619644
HP:0011873	Abnormal platelet count	150274	HSCB	OMIM:619523
HP:0011873	Abnormal platelet count	11311	VPS45	OMIM:615285
HP:0011873	Abnormal platelet count	50485	SMARCAL1	ORPHA:1830
HP:0011873	Abnormal platelet count	50485	SMARCAL1	OMIM:242900
HP:0011873	Abnormal platelet count	2542	SLC37A4	OMIM:619525
HP:0011873	Abnormal platelet count	7841	MOGS	ORPHA:79330
HP:0011873	Abnormal platelet count	540	ATP7B	OMIM:277900
HP:0011873	Abnormal platelet count	540	ATP7B	ORPHA:905
HP:0011873	Abnormal platelet count	19	ABCA1	ORPHA:31150
HP:0011873	Abnormal platelet count	9968	MED12	OMIM:301068
HP:0011873	Abnormal platelet count	2189	FANCG	OMIM:614082
HP:0011873	Abnormal platelet count	2189	FANCG	ORPHA:84
HP:0011873	Abnormal platelet count	5692	PSMB4	OMIM:617591
HP:0011873	Abnormal platelet count	5698	PSMB9	OMIM:617591
HP:0011873	Abnormal platelet count	6603	SMARCD2	OMIM:617475
HP:0011873	Abnormal platelet count	25836	NIPBL	OMIM:122470
HP:0011873	Abnormal platelet count	3930	LBR	OMIM:169400
HP:0011873	Abnormal platelet count	79087	ALG12	ORPHA:79324
HP:0011873	Abnormal platelet count	79053	ALG8	ORPHA:79325
HP:0011873	Abnormal platelet count	79053	ALG8	OMIM:608104
HP:0011873	Abnormal platelet count	51311	TLR8	OMIM:301078
HP:0011873	Abnormal platelet count	2629	GBA1	ORPHA:77261
HP:0011873	Abnormal platelet count	2629	GBA1	ORPHA:77259
HP:0011873	Abnormal platelet count	2629	GBA1	OMIM:230800
HP:0011873	Abnormal platelet count	2629	GBA1	ORPHA:2072
HP:0011873	Abnormal platelet count	2629	GBA1	OMIM:230900
HP:0011873	Abnormal platelet count	2629	GBA1	OMIM:608013
HP:0011873	Abnormal platelet count	2629	GBA1	OMIM:231000
HP:0011873	Abnormal platelet count	2629	GBA1	ORPHA:85212
HP:0011873	Abnormal platelet count	51645	PPIL1	OMIM:619301
HP:0011873	Abnormal platelet count	51362	CDC40	OMIM:619302
HP:0011873	Abnormal platelet count	81570	CLPB	OMIM:616271
HP:0011873	Abnormal platelet count	10459	MAD2L2	OMIM:617243
HP:0011873	Abnormal platelet count	10459	MAD2L2	ORPHA:84
HP:0011873	Abnormal platelet count	6654	SOS1	OMIM:610733
HP:0011873	Abnormal platelet count	5277	PIGA	OMIM:301072
HP:0011873	Abnormal platelet count	5277	PIGA	ORPHA:447
HP:0011873	Abnormal platelet count	4594	MMUT	ORPHA:79312
HP:0011873	Abnormal platelet count	4594	MMUT	ORPHA:289916
HP:0011873	Abnormal platelet count	4594	MMUT	OMIM:251000
HP:0011873	Abnormal platelet count	87	ACTN1	OMIM:615193
HP:0011873	Abnormal platelet count	2187	FANCB	OMIM:300514
HP:0011873	Abnormal platelet count	2187	FANCB	ORPHA:84
HP:0011873	Abnormal platelet count	4179	CD46	OMIM:612922
HP:0011873	Abnormal platelet count	4179	CD46	ORPHA:244242
HP:0011873	Abnormal platelet count	6916	TBXAS1	OMIM:231095
HP:0011873	Abnormal platelet count	629	CFB	OMIM:612924
HP:0011873	Abnormal platelet count	3426	CFI	OMIM:612923
HP:0011873	Abnormal platelet count	3426	CFI	ORPHA:244242
HP:0011873	Abnormal platelet count	959	CD40LG	OMIM:308230
HP:0011873	Abnormal platelet count	7056	THBD	OMIM:612926
HP:0011873	Abnormal platelet count	718	C3	OMIM:612925
HP:0011873	Abnormal platelet count	201294	UNC13D	ORPHA:540
HP:0011873	Abnormal platelet count	6813	STXBP2	ORPHA:540
HP:0011873	Abnormal platelet count	6813	STXBP2	OMIM:613101
HP:0011873	Abnormal platelet count	6888	TALDO1	ORPHA:101028
HP:0011873	Abnormal platelet count	6888	TALDO1	OMIM:606003
HP:0011873	Abnormal platelet count	58484	NLRC4	OMIM:616050
HP:0011873	Abnormal platelet count	29887	SNX10	OMIM:615085
HP:0011873	Abnormal platelet count	23395	LARS2	OMIM:617021
HP:0011873	Abnormal platelet count	51119	SBDS	OMIM:260400
HP:0011873	Abnormal platelet count	51119	SBDS	ORPHA:811
HP:0011873	Abnormal platelet count	51119	SBDS	ORPHA:88
HP:0011873	Abnormal platelet count	134218	DNAJC21	OMIM:260400
HP:0011873	Abnormal platelet count	134218	DNAJC21	OMIM:617052
HP:0011873	Abnormal platelet count	134218	DNAJC21	ORPHA:811
HP:0011873	Abnormal platelet count	6729	SRP54	OMIM:260400
HP:0011873	Abnormal platelet count	6729	SRP54	ORPHA:811
HP:0011873	Abnormal platelet count	4952	OCRL	ORPHA:534
HP:0011873	Abnormal platelet count	331	XIAP	OMIM:308240
HP:0011873	Abnormal platelet count	4068	SH2D1A	OMIM:308240
HP:0011873	Abnormal platelet count	23218	NBEAL2	OMIM:139090
HP:0011873	Abnormal platelet count	23218	NBEAL2	ORPHA:721
HP:0011873	Abnormal platelet count	427	ASAH1	ORPHA:333
HP:0011873	Abnormal platelet count	537	ATP6AP1	OMIM:300972
HP:0011873	Abnormal platelet count	7922	SLC39A7	OMIM:619693
HP:0011873	Abnormal platelet count	50619	DEF6	OMIM:619573
HP:0011873	Abnormal platelet count	8260	NAA10	OMIM:300855
HP:0011873	Abnormal platelet count	3394	IRF8	OMIM:226990
HP:0011873	Abnormal platelet count	11274	USP18	OMIM:617397
HP:0011873	Abnormal platelet count	1312	COMT	ORPHA:567
HP:0011873	Abnormal platelet count	221037	JMJD1C	ORPHA:567
HP:0011873	Abnormal platelet count	6239	RREB1	ORPHA:567
HP:0011873	Abnormal platelet count	6899	TBX1	ORPHA:567
HP:0011873	Abnormal platelet count	6899	TBX1	OMIM:188400
HP:0011873	Abnormal platelet count	7290	HIRA	ORPHA:567
HP:0011873	Abnormal platelet count	9632	SEC24C	ORPHA:567
HP:0011873	Abnormal platelet count	7353	UFD1	ORPHA:567
HP:0011873	Abnormal platelet count	421	ARVCF	ORPHA:567
HP:0011873	Abnormal platelet count	55750	AGK	OMIM:212350
HP:0011873	Abnormal platelet count	22852	ANKRD26	OMIM:188000
HP:0011873	Abnormal platelet count	26276	VPS33B	OMIM:208085
HP:0011873	Abnormal platelet count	546	ATRX	ORPHA:231401
HP:0011873	Abnormal platelet count	55340	GIMAP5	OMIM:619463
HP:0011873	Abnormal platelet count	56244	BTNL2	ORPHA:797
HP:0011873	Abnormal platelet count	3123	HLA-DRB1	ORPHA:797
HP:0011873	Abnormal platelet count	5660	PSAP	OMIM:610539
HP:0011873	Abnormal platelet count	54809	SAMD9	OMIM:617053
HP:0011873	Abnormal platelet count	54809	SAMD9	OMIM:619041
HP:0011873	Abnormal platelet count	55651	NHP2	OMIM:224230
HP:0011873	Abnormal platelet count	55651	NHP2	OMIM:613987
HP:0011873	Abnormal platelet count	55651	NHP2	ORPHA:1775
HP:0011873	Abnormal platelet count	55505	NOP10	OMIM:224230
HP:0011873	Abnormal platelet count	55505	NOP10	ORPHA:1775
HP:0011873	Abnormal platelet count	8567	MADD	OMIM:619004
HP:0011873	Abnormal platelet count	8567	MADD	OMIM:619005
HP:0011873	Abnormal platelet count	29123	ANKRD11	ORPHA:261250
HP:0011873	Abnormal platelet count	6786	STIM1	OMIM:185070
HP:0011873	Abnormal platelet count	6786	STIM1	OMIM:612783
HP:0011873	Abnormal platelet count	6948	TCN2	ORPHA:859
HP:0011873	Abnormal platelet count	3516	RBPJ	ORPHA:974
HP:0011873	Abnormal platelet count	4851	NOTCH1	ORPHA:974
HP:0011873	Abnormal platelet count	57514	ARHGAP31	ORPHA:974
HP:0011873	Abnormal platelet count	57572	DOCK6	ORPHA:974
HP:0011873	Abnormal platelet count	285203	EOGT	ORPHA:974
HP:0011873	Abnormal platelet count	54567	DLL4	ORPHA:974
HP:0011873	Abnormal platelet count	199221	DZIP1L	ORPHA:731
HP:0011873	Abnormal platelet count	5314	PKHD1	ORPHA:731
HP:0011873	Abnormal platelet count	64376	IKZF5	OMIM:619130
HP:0011873	Abnormal platelet count	2177	FANCD2	OMIM:227646
HP:0011873	Abnormal platelet count	2177	FANCD2	ORPHA:84
HP:0011873	Abnormal platelet count	2176	FANCC	OMIM:227645
HP:0011873	Abnormal platelet count	2176	FANCC	ORPHA:84
HP:0011873	Abnormal platelet count	7390	UROS	OMIM:263700
HP:0011873	Abnormal platelet count	7390	UROS	ORPHA:79277
HP:0011873	Abnormal platelet count	51371	POMP	OMIM:618048
HP:0011873	Abnormal platelet count	5557	PRIM1	OMIM:620005
HP:0011873	Abnormal platelet count	4683	NBN	ORPHA:647
HP:0011873	Abnormal platelet count	4683	NBN	OMIM:251260
HP:0011873	Abnormal platelet count	1719	DHFR	OMIM:613839
HP:0011873	Abnormal platelet count	5371	PML	ORPHA:520
HP:0011873	Abnormal platelet count	5914	RARA	ORPHA:520
HP:0011873	Abnormal platelet count	81608	FIP1L1	ORPHA:520
HP:0011873	Abnormal platelet count	4869	NPM1	ORPHA:520
HP:0011873	Abnormal platelet count	4869	NPM1	ORPHA:1775
HP:0011873	Abnormal platelet count	5573	PRKAR1A	ORPHA:520
HP:0011873	Abnormal platelet count	54880	BCOR	ORPHA:520
HP:0011873	Abnormal platelet count	64859	NABP1	ORPHA:520
HP:0011873	Abnormal platelet count	6777	STAT5B	ORPHA:520
HP:0011873	Abnormal platelet count	4926	NUMA1	ORPHA:520
HP:0011873	Abnormal platelet count	7704	ZBTB16	ORPHA:520
HP:0011873	Abnormal platelet count	79718	TBL1XR1	ORPHA:520
HP:0011873	Abnormal platelet count	5696	PSMB8	OMIM:256040
HP:0011873	Abnormal platelet count	54938	SARS2	OMIM:613845
HP:0011873	Abnormal platelet count	128	ADH5	OMIM:619151
HP:0011873	Abnormal platelet count	171023	ASXL1	ORPHA:98850
HP:0011873	Abnormal platelet count	171023	ASXL1	ORPHA:98849
HP:0011873	Abnormal platelet count	867	CBL	ORPHA:98850
HP:0011873	Abnormal platelet count	6427	SRSF2	ORPHA:98850
HP:0011873	Abnormal platelet count	6427	SRSF2	ORPHA:98849
HP:0011873	Abnormal platelet count	6309	SC5D	ORPHA:46059
HP:0011873	Abnormal platelet count	10312	TCIRG1	OMIM:259700
HP:0011873	Abnormal platelet count	10312	TCIRG1	ORPHA:210110
HP:0011873	Abnormal platelet count	3815	KIT	ORPHA:98849
HP:0011873	Abnormal platelet count	10667	FARS2	OMIM:614946
HP:0011873	Abnormal platelet count	55788	LMBRD1	OMIM:277380
HP:0011873	Abnormal platelet count	3141	HLCS	OMIM:253270
HP:0011873	Abnormal platelet count	3141	HLCS	ORPHA:79242
HP:0011873	Abnormal platelet count	7015	TERT	OMIM:613989
HP:0011873	Abnormal platelet count	7015	TERT	ORPHA:88
HP:0011873	Abnormal platelet count	7015	TERT	ORPHA:3322
HP:0011873	Abnormal platelet count	7015	TERT	OMIM:127550
HP:0011873	Abnormal platelet count	7015	TERT	ORPHA:1775
HP:0011873	Abnormal platelet count	9382	COG1	OMIM:611209
HP:0011873	Abnormal platelet count	79631	EFL1	ORPHA:811
HP:0011873	Abnormal platelet count	79631	EFL1	OMIM:617941
HP:0011873	Abnormal platelet count	2533	FYB1	OMIM:273900
HP:0011873	Abnormal platelet count	25839	COG4	ORPHA:263501
HP:0011873	Abnormal platelet count	7012	TERC	ORPHA:88
HP:0011873	Abnormal platelet count	7012	TERC	OMIM:127550
HP:0011873	Abnormal platelet count	7012	TERC	ORPHA:1775
HP:0011873	Abnormal platelet count	9630	GNA14	ORPHA:1063
HP:0011873	Abnormal platelet count	26277	TINF2	OMIM:613990
HP:0011873	Abnormal platelet count	26277	TINF2	ORPHA:3322
HP:0011873	Abnormal platelet count	26277	TINF2	OMIM:127550
HP:0011873	Abnormal platelet count	26277	TINF2	ORPHA:1775
HP:0011873	Abnormal platelet count	348	APOE	OMIM:269600
HP:0011873	Abnormal platelet count	348	APOE	ORPHA:158029
HP:0011873	Abnormal platelet count	3988	LIPA	OMIM:278000
HP:0011873	Abnormal platelet count	92579	G6PC3	OMIM:612541
HP:0011873	Abnormal platelet count	55858	TMEM165	OMIM:614727
HP:0011873	Abnormal platelet count	9103	FCGR2C	ORPHA:3002
HP:0011873	Abnormal platelet count	672	BRCA1	ORPHA:84
HP:0011873	Abnormal platelet count	7516	XRCC2	ORPHA:84
HP:0011873	Abnormal platelet count	29089	UBE2T	ORPHA:84
HP:0011873	Abnormal platelet count	29089	UBE2T	OMIM:616435
HP:0011873	Abnormal platelet count	675	BRCA2	ORPHA:84
HP:0011873	Abnormal platelet count	55120	FANCL	ORPHA:84
HP:0011873	Abnormal platelet count	2178	FANCE	ORPHA:84
HP:0011873	Abnormal platelet count	2178	FANCE	OMIM:600901
HP:0011873	Abnormal platelet count	5888	RAD51	ORPHA:84
HP:0011873	Abnormal platelet count	5889	RAD51C	ORPHA:84
HP:0011873	Abnormal platelet count	55159	RFWD3	ORPHA:84
HP:0011873	Abnormal platelet count	83990	BRIP1	ORPHA:84
HP:0011873	Abnormal platelet count	57697	FANCM	ORPHA:84
HP:0011873	Abnormal platelet count	79728	PALB2	ORPHA:84
HP:0011873	Abnormal platelet count	84464	SLX4	ORPHA:84
HP:0011873	Abnormal platelet count	2072	ERCC4	ORPHA:84
HP:0011873	Abnormal platelet count	55215	FANCI	ORPHA:84
HP:0011873	Abnormal platelet count	8546	AP3B1	OMIM:608233
HP:0011873	Abnormal platelet count	5095	PCCA	OMIM:606054
HP:0011873	Abnormal platelet count	5096	PCCB	OMIM:606054
HP:0011873	Abnormal platelet count	7466	WFS1	OMIM:222300
HP:0011873	Abnormal platelet count	5328	PLAU	OMIM:601709
HP:0011873	Abnormal platelet count	10352	WARS2	ORPHA:572798
HP:0011873	Abnormal platelet count	10352	WARS2	OMIM:617710
HP:0011873	Abnormal platelet count	342618	SLFN14	OMIM:616913
HP:0011873	Abnormal platelet count	4598	MVK	OMIM:610377
HP:0011873	Abnormal platelet count	113235	SLC46A1	OMIM:229050
HP:0011873	Abnormal platelet count	113235	SLC46A1	ORPHA:90045
HP:0011873	Abnormal platelet count	28976	ACAD9	ORPHA:99901
HP:0011873	Abnormal platelet count	28976	ACAD9	OMIM:611126
HP:0011873	Abnormal platelet count	5826	ABCD4	OMIM:614857
HP:0011873	Abnormal platelet count	2321	FLT1	ORPHA:275555
HP:0011873	Abnormal platelet count	219736	STOX1	ORPHA:275555
HP:0011873	Abnormal platelet count	10699	CORIN	ORPHA:275555
HP:0011873	Abnormal platelet count	7456	WIPF1	ORPHA:906
HP:0011873	Abnormal platelet count	7456	WIPF1	OMIM:614493
HP:0011873	Abnormal platelet count	375748	ERCC6L2	OMIM:615715
HP:0011873	Abnormal platelet count	157570	ESCO2	ORPHA:3103
HP:0011873	Abnormal platelet count	2624	GATA2	ORPHA:3226
HP:0011873	Abnormal platelet count	55719	SLF2	OMIM:620184
HP:0011873	Abnormal platelet count	23137	SMC5	OMIM:620185
HP:0011873	Abnormal platelet count	55027	HEATR3	OMIM:620072
HP:0011873	Abnormal platelet count	26227	PHGDH	OMIM:601815
HP:0011873	Abnormal platelet count	6714	SRC	OMIM:616937
HP:0011873	Abnormal platelet count	695	BTK	ORPHA:47
HP:0011873	Abnormal platelet count	4846	NOS3	OMIM:189800
HP:0011873	Abnormal platelet count	1186	CLCN7	OMIM:611490
HP:0011873	Abnormal platelet count	1186	CLCN7	ORPHA:210110
HP:0011873	Abnormal platelet count	7450	VWF	OMIM:613554
HP:0011873	Abnormal platelet count	7450	VWF	OMIM:277480
HP:0011873	Abnormal platelet count	9939	RBM8A	ORPHA:3320
HP:0011873	Abnormal platelet count	9939	RBM8A	OMIM:274000
HP:0011873	Abnormal platelet count	51750	RTEL1	ORPHA:3322
HP:0011873	Abnormal platelet count	51750	RTEL1	ORPHA:1775
HP:0011873	Abnormal platelet count	65057	ACD	ORPHA:3322
HP:0011873	Abnormal platelet count	5073	PARN	ORPHA:3322
HP:0011873	Abnormal platelet count	5073	PARN	ORPHA:1775
HP:0011873	Abnormal platelet count	64241	ABCG8	OMIM:210250
HP:0011873	Abnormal platelet count	28962	OSTM1	OMIM:259720
HP:0011873	Abnormal platelet count	51095	TRNT1	OMIM:616959
HP:0011873	Abnormal platelet count	3075	CFH	OMIM:235400
HP:0011873	Abnormal platelet count	3075	CFH	ORPHA:244242
HP:0011873	Abnormal platelet count	3078	CFHR1	OMIM:235400
HP:0011873	Abnormal platelet count	10878	CFHR3	OMIM:235400
HP:0011873	Abnormal platelet count	8600	TNFSF11	OMIM:259710
HP:0011873	Abnormal platelet count	2982	GUCY1A1	OMIM:615750
HP:0011873	Abnormal platelet count	2982	GUCY1A1	ORPHA:401945
HP:0011873	Abnormal platelet count	54205	CYCS	OMIM:612004
HP:0011873	Abnormal platelet count	3932	LCK	OMIM:615758
HP:0011873	Abnormal platelet count	6775	STAT4	ORPHA:93552
HP:0011873	Abnormal platelet count	6696	SPP1	ORPHA:93552
HP:0011873	Abnormal platelet count	3654	IRAK1	ORPHA:93552
HP:0011873	Abnormal platelet count	6261	RYR1	ORPHA:466650
HP:0011873	Abnormal platelet count	55593	OTUD5	OMIM:301056
HP:0011873	Abnormal platelet count	7317	UBA1	OMIM:301054
HP:0011873	Abnormal platelet count	948	CD36	OMIM:608404
HP:0011873	Abnormal platelet count	998	CDC42	OMIM:616737
HP:0011873	Abnormal platelet count	998	CDC42	ORPHA:487796
HP:0011873	Abnormal platelet count	10560	SLC19A2	ORPHA:49827
HP:0011873	Abnormal platelet count	10560	SLC19A2	OMIM:249270
HP:0011873	Abnormal platelet count	11093	ADAMTS13	OMIM:274150
HP:0011873	Abnormal platelet count	1287	COL4A5	OMIM:301050
HP:0011873	Abnormal platelet count	79840	NHEJ1	ORPHA:169079
HP:0011873	Abnormal platelet count	3106	HLA-B	ORPHA:36426
HP:0011873	Abnormal platelet count	10320	IKZF1	ORPHA:36426
HP:0011873	Abnormal platelet count	7128	TNFAIP3	OMIM:616744
HP:0011873	Abnormal platelet count	10095	ARPC1B	OMIM:617718
HP:0011873	Abnormal platelet count	3431	SP110	ORPHA:79124
HP:0011873	Abnormal platelet count	3712	IVD	OMIM:243500
HP:0011873	Abnormal platelet count	8985	PLOD3	OMIM:612394
HP:0011873	Abnormal platelet count	57511	COG6	OMIM:614576
HP:0011873	Abnormal platelet count	2475	MTOR	OMIM:616638
HP:0011873	Abnormal platelet count	326625	MMAB	OMIM:251110
HP:0011873	Abnormal platelet count	760	CA2	ORPHA:2785
HP:0011873	Abnormal platelet count	9842	PLEKHM1	ORPHA:210110
HP:0011873	Abnormal platelet count	2065	ERBB3	OMIM:133180
HP:0011873	Abnormal platelet count	2316	FLNA	OMIM:300048
HP:0011873	Abnormal platelet count	101101692	HELLPAR	ORPHA:244242
HP:0011873	Abnormal platelet count	100506658	OCLN	OMIM:251290
HP:0011873	Abnormal platelet count	5294	PIK3CG	OMIM:619802
HP:0011873	Abnormal platelet count	25974	MMACHC	ORPHA:79282
HP:0011873	Abnormal platelet count	25974	MMACHC	OMIM:277400
HP:0011873	Abnormal platelet count	80169	CTC1	OMIM:612199
HP:0011873	Abnormal platelet count	80169	CTC1	ORPHA:1775
HP:0011873	Abnormal platelet count	79650	USB1	ORPHA:1775
HP:0011873	Abnormal platelet count	55135	WRAP53	ORPHA:1775
HP:0011873	Abnormal platelet count	7298	TYMS	ORPHA:1775
HP:0011873	Abnormal platelet count	2212	FCGR2A	OMIM:152700
HP:0011873	Abnormal platelet count	2213	FCGR2B	OMIM:152700
HP:0011873	Abnormal platelet count	26191	PTPN22	OMIM:152700
HP:0011873	Abnormal platelet count	1773	DNASE1	OMIM:152700
HP:0011873	Abnormal platelet count	1794	DOCK2	OMIM:616433
HP:0011873	Abnormal platelet count	5052	PRDX1	OMIM:277400
HP:0011873	Abnormal platelet count	38	ACAT1	ORPHA:134
HP:0011873	Abnormal platelet count	3043	HBB	ORPHA:232
HP:0011873	Abnormal platelet count	9051	PSTPIP1	OMIM:604416
HP:0011873	Abnormal platelet count	4352	MPL	ORPHA:71493
HP:0011873	Abnormal platelet count	4352	MPL	ORPHA:824
HP:0011873	Abnormal platelet count	4352	MPL	OMIM:601977
HP:0011873	Abnormal platelet count	7066	THPO	ORPHA:71493
HP:0011873	Abnormal platelet count	7066	THPO	OMIM:187950
HP:0011873	Abnormal platelet count	3717	JAK2	ORPHA:71493
HP:0011873	Abnormal platelet count	3717	JAK2	OMIM:263300
HP:0011873	Abnormal platelet count	3717	JAK2	OMIM:614521
HP:0011873	Abnormal platelet count	3717	JAK2	ORPHA:824
HP:0011873	Abnormal platelet count	3155	HMGCL	ORPHA:20
HP:0011873	Abnormal platelet count	5966	REL	OMIM:619652
HP:0011873	Abnormal platelet count	57217	TTC7A	OMIM:243150
HP:0011873	Abnormal platelet count	9652	SKIC3	OMIM:222470
HP:0011873	Abnormal platelet count	9652	SKIC3	ORPHA:84064
HP:0011873	Abnormal platelet count	6208	RPS14	ORPHA:86841
HP:0011873	Abnormal platelet count	3783	KCNN4	OMIM:616689
HP:0011873	Abnormal platelet count	3458	IFNG	OMIM:618963
HP:0011873	Abnormal platelet count	340061	STING1	OMIM:615934
HP:0011873	Abnormal platelet count	811	CALR	ORPHA:824
HP:0011873	Abnormal platelet count	811	CALR	OMIM:187950
HP:0011873	Abnormal platelet count	54790	TET2	ORPHA:824
HP:0011873	Abnormal platelet count	54790	TET2	ORPHA:75564
HP:0011873	Abnormal platelet count	3117	HLA-DQA1	OMIM:212750
HP:0011873	Abnormal platelet count	3119	HLA-DQB1	OMIM:212750
HP:0011873	Abnormal platelet count	526	ATP6V1B2	ORPHA:79500
HP:0011873	Abnormal platelet count	57465	TBC1D24	ORPHA:79500
HP:0011873	Abnormal platelet count	6223	RPS19	OMIM:105650
HP:0011873	Abnormal platelet count	6223	RPS19	ORPHA:124
HP:0011873	Abnormal platelet count	23451	SF3B1	ORPHA:75564
HP:0011873	Abnormal platelet count	5293	PIK3CD	OMIM:619281
HP:0011873	Abnormal platelet count	613	BCR	ORPHA:521
HP:0011873	Abnormal platelet count	25	ABL1	ORPHA:521
HP:0011873	Abnormal platelet count	861	RUNX1	ORPHA:521
HP:0011873	Abnormal platelet count	6135	RPL11	ORPHA:124
HP:0011873	Abnormal platelet count	6138	RPL15	ORPHA:124
HP:0011873	Abnormal platelet count	6229	RPS24	ORPHA:124
HP:0011873	Abnormal platelet count	6125	RPL5	ORPHA:124
HP:0011873	Abnormal platelet count	6204	RPS10	ORPHA:124
HP:0011873	Abnormal platelet count	6224	RPS20	ORPHA:124
HP:0011873	Abnormal platelet count	6165	RPL35A	ORPHA:124
HP:0011873	Abnormal platelet count	2623	GATA1	ORPHA:124
HP:0011873	Abnormal platelet count	6232	RPS27	ORPHA:124
HP:0011873	Abnormal platelet count	6231	RPS26	ORPHA:124
HP:0011873	Abnormal platelet count	11224	RPL35	ORPHA:124
HP:0011873	Abnormal platelet count	6160	RPL31	ORPHA:124
HP:0011873	Abnormal platelet count	6218	RPS17	ORPHA:124
HP:0011873	Abnormal platelet count	6201	RPS7	ORPHA:124
HP:0011873	Abnormal platelet count	6155	RPL27	ORPHA:124
HP:0011873	Abnormal platelet count	6154	RPL26	ORPHA:124
HP:0011873	Abnormal platelet count	6210	RPS15A	ORPHA:124
HP:0011873	Abnormal platelet count	90121	TSR2	ORPHA:124
HP:0011873	Abnormal platelet count	6141	RPL18	ORPHA:124
HP:0011873	Abnormal platelet count	6235	RPS29	ORPHA:124
HP:0011873	Abnormal platelet count	6234	RPS28	ORPHA:124
HP:0011873	Abnormal platelet count	51816	ADA2	ORPHA:124
HP:0011873	Abnormal platelet count	51816	ADA2	OMIM:615688
HP:0011873	Abnormal platelet count	2000	ELF4	OMIM:301074
HP:0011873	Abnormal platelet count	10019	SH2B3	OMIM:187950
HP:0011873	Abnormal platelet count	4522	MTHFD1	OMIM:617780
HP:0011873	Abnormal platelet count	1604	CD55	OMIM:226300
HP:0011873	Abnormal platelet count	144811	LACC1	OMIM:618795
HP:0011873	Abnormal platelet count	7040	TGFB1	OMIM:618213
HP:0011873	Abnormal platelet count	4141	MARS1	OMIM:615486
HP:0011873	Abnormal platelet count	3162	HMOX1	OMIM:614034
HP:0011873	Abnormal platelet count	6499	SKIC2	ORPHA:84064
HP:0011873	Abnormal platelet count	3459	IFNGR1	OMIM:209950
HP:0011873	Abnormal platelet count	1991	ELANE	OMIM:202700
HP:0011873	Abnormal platelet count	5373	PMM2	OMIM:212065
HP:0011873	Abnormal platelet count	3921	RPSA	OMIM:271400
HP:0011873	Abnormal platelet count	6773	STAT2	OMIM:618886
HP:0011873	Abnormal platelet count	4627	MYH9	ORPHA:182050
HP:0011873	Abnormal platelet count	7454	WAS	OMIM:313900
HP:0011873	Abnormal platelet count	2122	MECOM	OMIM:616738
HP:0011873	Abnormal platelet count	3207	HOXA11	OMIM:605432
HP:0011873	Abnormal platelet count	355	FAS	ORPHA:3261
HP:0011873	Abnormal platelet count	355	FAS	OMIM:601859
HP:0011873	Abnormal platelet count	356	FASLG	ORPHA:3261
HP:0011873	Abnormal platelet count	356	FASLG	OMIM:601859
HP:0011873	Abnormal platelet count	5580	PRKCD	ORPHA:3261
HP:0011873	Abnormal platelet count	5580	PRKCD	OMIM:615559
HP:0011873	Abnormal platelet count	5580	PRKCD	ORPHA:1572
HP:0011873	Abnormal platelet count	843	CASP10	ORPHA:3261
HP:0011873	Abnormal platelet count	843	CASP10	OMIM:603909
HP:0011873	Abnormal platelet count	10125	RASGRP1	ORPHA:3261
HP:0011873	Abnormal platelet count	10125	RASGRP1	OMIM:618534
HP:0011873	Abnormal platelet count	6772	STAT1	ORPHA:391487
HP:0011873	Abnormal platelet count	10043	TOM1	ORPHA:391487
HP:0011873	Abnormal platelet count	4791	NFKB2	ORPHA:293978
HP:0011873	Abnormal platelet count	4791	NFKB2	ORPHA:1572
HP:0011873	Abnormal platelet count	3702	ITK	OMIM:613011
HP:0011873	Abnormal platelet count	975	CD81	OMIM:613496
HP:0011873	Abnormal platelet count	975	CD81	ORPHA:1572
HP:0011873	Abnormal platelet count	6774	STAT3	OMIM:615952
HP:0011873	Abnormal platelet count	4860	PNP	OMIM:613179
HP:0011873	Abnormal platelet count	4860	PNP	ORPHA:760
HP:0011873	Abnormal platelet count	987	LRBA	OMIM:614700
HP:0011873	Abnormal platelet count	54440	SASH3	OMIM:301082
HP:0011873	Abnormal platelet count	50943	FOXP3	OMIM:304790
HP:0011873	Abnormal platelet count	50943	FOXP3	ORPHA:37042
HP:0011873	Abnormal platelet count	7174	TPP2	ORPHA:444463
HP:0011873	Abnormal platelet count	7174	TPP2	OMIM:619220
HP:0011873	Abnormal platelet count	51284	TLR7	OMIM:301080
HP:0011873	Abnormal platelet count	3575	IL7R	ORPHA:169154
HP:0011873	Abnormal platelet count	3845	KRAS	OMIM:614470
HP:0011873	Abnormal platelet count	4893	NRAS	OMIM:614470
HP:0011873	Abnormal platelet count	56259	CTNNBL1	OMIM:619846
HP:0011873	Abnormal platelet count	5994	RFXAP	ORPHA:572
HP:0011873	Abnormal platelet count	4261	CIITA	ORPHA:572
HP:0011873	Abnormal platelet count	5993	RFX5	ORPHA:572
HP:0011873	Abnormal platelet count	8625	RFXANK	ORPHA:572
HP:0011873	Abnormal platelet count	54	ACP5	OMIM:607944
HP:0011873	Abnormal platelet count	54	ACP5	ORPHA:1855
HP:0011873	Abnormal platelet count	6609	SMPD1	ORPHA:77293
HP:0011873	Abnormal platelet count	84061	MAGT1	OMIM:300853
HP:0011873	Abnormal platelet count	8651	SOCS1	OMIM:619375
HP:0011873	Abnormal platelet count	1493	CTLA4	OMIM:616100
HP:0011873	Abnormal platelet count	27040	LAT	OMIM:617514
HP:0011873	Abnormal platelet count	100	ADA	OMIM:102700
HP:0011873	Abnormal platelet count	2581	GALC	OMIM:245200
HP:0011873	Abnormal platelet count	23495	TNFRSF13B	ORPHA:1572
HP:0011873	Abnormal platelet count	4790	NFKB1	ORPHA:1572
HP:0011873	Abnormal platelet count	115650	TNFRSF13C	ORPHA:1572
HP:0011873	Abnormal platelet count	1380	CR2	ORPHA:1572
HP:0011873	Abnormal platelet count	8742	TNFSF12	ORPHA:1572
HP:0011873	Abnormal platelet count	930	CD19	ORPHA:1572
HP:0011873	Abnormal platelet count	29851	ICOS	ORPHA:1572
HP:0011873	Abnormal platelet count	931	MS4A1	ORPHA:1572
HP:0011873	Abnormal platelet count	359948	IRF2BP2	ORPHA:1572
HP:0011873	Abnormal platelet count	9138	ARHGEF1	OMIM:618459
HP:0011873	Abnormal platelet count	7535	ZAP70	ORPHA:911
HP:0011873	Abnormal platelet count	8085	KMT2D	OMIM:147920
HP:0011873	Abnormal platelet count	7403	KDM6A	OMIM:147920
HP:0011873	Abnormal platelet count	10535	RNASEH2A	ORPHA:51
HP:0011873	Abnormal platelet count	84153	RNASEH2C	ORPHA:51
HP:0011873	Abnormal platelet count	25939	SAMHD1	ORPHA:51
HP:0011873	Abnormal platelet count	79621	RNASEH2B	ORPHA:51
HP:0011873	Abnormal platelet count	103	ADAR	ORPHA:51
HP:0011873	Abnormal platelet count	11277	TREX1	ORPHA:51
HP:0011873	Abnormal platelet count	100147744	RNU7-1	ORPHA:51
HP:0011873	Abnormal platelet count	134353	LSM11	ORPHA:51
HP:0011873	Abnormal platelet count	64135	IFIH1	ORPHA:51
HP:0011873	Abnormal platelet count	2811	GP1BA	ORPHA:853
HP:0011873	Abnormal platelet count	2812	GP1BB	ORPHA:853
HP:0011873	Abnormal platelet count	3674	ITGA2B	ORPHA:853
HP:0011873	Abnormal platelet count	3673	ITGA2	ORPHA:853
HP:0011873	Abnormal platelet count	135228	CD109	ORPHA:853
HP:0011873	Abnormal platelet count	3690	ITGB3	ORPHA:853
HP:0011873	Abnormal platelet count	9948	WDR1	OMIM:150550
HP:0011873	Abnormal platelet count	7037	TFRC	OMIM:616740
HP:0011873	Abnormal platelet count	5604	MAP2K1	OMIM:163950
HP:0011873	Abnormal platelet count	5781	PTPN11	OMIM:163950
HP:0011873	Abnormal platelet count	673	BRAF	OMIM:163950
HP:0011873	Abnormal platelet count	51206	GP6	OMIM:614201
HP:0011873	Abnormal platelet count	6915	TBXA2R	OMIM:614009
HP:0011873	Abnormal platelet count	2038	EPB42	OMIM:612690
HP:0011873	Abnormal platelet count	2048	EPHB2	OMIM:618462
HP:0011873	Abnormal platelet count	2815	GP9	OMIM:231200
HP:0011873	Abnormal platelet count	2815	GP9	ORPHA:274
HP:0011873	Abnormal platelet count	81027	TUBB1	OMIM:613112
HP:0011873	Abnormal platelet count	10559	SLC35A1	OMIM:603585
HP:0011873	Abnormal platelet count	1729	DIAPH1	OMIM:124900
HP:0011873	Abnormal platelet count	51807	TUBA8	OMIM:619840
HP:0011873	Abnormal platelet count	8328	GFI1B	OMIM:187900
HP:0011873	Abnormal platelet count	5568	PRKACG	OMIM:616176
HP:0011875	Abnormal platelet morphology	201595	STT3B	OMIM:615597
HP:0011875	Abnormal platelet morphology	201595	STT3B	ORPHA:370924
HP:0011875	Abnormal platelet morphology	22800	RRAS2	OMIM:618624
HP:0011875	Abnormal platelet morphology	1736	DKC1	OMIM:305000
HP:0011875	Abnormal platelet morphology	1736	DKC1	ORPHA:3322
HP:0011875	Abnormal platelet morphology	1736	DKC1	ORPHA:1775
HP:0011875	Abnormal platelet morphology	114803	MYSM1	ORPHA:508542
HP:0011875	Abnormal platelet morphology	114803	MYSM1	OMIM:618116
HP:0011875	Abnormal platelet morphology	2175	FANCA	OMIM:227650
HP:0011875	Abnormal platelet morphology	2175	FANCA	ORPHA:84
HP:0011875	Abnormal platelet morphology	2120	ETV6	OMIM:616216
HP:0011875	Abnormal platelet morphology	166378	AFG2A	OMIM:616577
HP:0011875	Abnormal platelet morphology	5184	PEPD	OMIM:170100
HP:0011875	Abnormal platelet morphology	65082	VPS33A	OMIM:617303
HP:0011875	Abnormal platelet morphology	65082	VPS33A	ORPHA:505248
HP:0011875	Abnormal platelet morphology	8526	DGKE	OMIM:615008
HP:0011875	Abnormal platelet morphology	2188	FANCF	OMIM:603467
HP:0011875	Abnormal platelet morphology	2188	FANCF	ORPHA:84
HP:0011875	Abnormal platelet morphology	8029	CUBN	ORPHA:35858
HP:0011875	Abnormal platelet morphology	81693	AMN	ORPHA:35858
HP:0011875	Abnormal platelet morphology	219285	SAMD9L	OMIM:159550
HP:0011875	Abnormal platelet morphology	219285	SAMD9L	OMIM:252270
HP:0011875	Abnormal platelet morphology	5155	PDGFB	ORPHA:1980
HP:0011875	Abnormal platelet morphology	9213	XPR1	ORPHA:1980
HP:0011875	Abnormal platelet morphology	5159	PDGFRB	ORPHA:1980
HP:0011875	Abnormal platelet morphology	57462	MYORG	ORPHA:1980
HP:0011875	Abnormal platelet morphology	6575	SLC20A2	ORPHA:1980
HP:0011875	Abnormal platelet morphology	58494	JAM2	ORPHA:1980
HP:0011875	Abnormal platelet morphology	1716	DGUOK	OMIM:251880
HP:0011875	Abnormal platelet morphology	26258	BLOC1S6	OMIM:614171
HP:0011875	Abnormal platelet morphology	7386	UQCRFS1	OMIM:618775
HP:0011875	Abnormal platelet morphology	5442	POLRMT	OMIM:619743
HP:0011875	Abnormal platelet morphology	80739	MPIG6B	OMIM:617441
HP:0011875	Abnormal platelet morphology	56992	KIF15	OMIM:619981
HP:0011875	Abnormal platelet morphology	56992	KIF15	ORPHA:261323
HP:0011875	Abnormal platelet morphology	950	SCARB2	OMIM:254900
HP:0011875	Abnormal platelet morphology	950	SCARB2	ORPHA:77259
HP:0011875	Abnormal platelet morphology	3981	LIG4	ORPHA:235
HP:0011875	Abnormal platelet morphology	3981	LIG4	OMIM:606593
HP:0011875	Abnormal platelet morphology	54888	NSUN2	ORPHA:235
HP:0011875	Abnormal platelet morphology	9056	SLC7A7	ORPHA:470
HP:0011875	Abnormal platelet morphology	9056	SLC7A7	OMIM:222700
HP:0011875	Abnormal platelet morphology	3572	IL6ST	OMIM:619751
HP:0011875	Abnormal platelet morphology	54914	FOCAD	OMIM:619991
HP:0011875	Abnormal platelet morphology	57167	SALL4	OMIM:147750
HP:0011875	Abnormal platelet morphology	57167	SALL4	ORPHA:2307
HP:0011875	Abnormal platelet morphology	166785	MMAA	OMIM:251100
HP:0011875	Abnormal platelet morphology	64421	DCLRE1C	OMIM:603554
HP:0011875	Abnormal platelet morphology	5896	RAG1	OMIM:603554
HP:0011875	Abnormal platelet morphology	5896	RAG1	ORPHA:331206
HP:0011875	Abnormal platelet morphology	5897	RAG2	OMIM:603554
HP:0011875	Abnormal platelet morphology	5897	RAG2	ORPHA:331206
HP:0011875	Abnormal platelet morphology	5551	PRF1	OMIM:603553
HP:0011875	Abnormal platelet morphology	5551	PRF1	ORPHA:540
HP:0011875	Abnormal platelet morphology	5551	PRF1	ORPHA:88
HP:0011875	Abnormal platelet morphology	8676	STX11	OMIM:603552
HP:0011875	Abnormal platelet morphology	8676	STX11	ORPHA:540
HP:0011875	Abnormal platelet morphology	57169	ZNFX1	OMIM:619644
HP:0011875	Abnormal platelet morphology	150274	HSCB	OMIM:619523
HP:0011875	Abnormal platelet morphology	11311	VPS45	OMIM:615285
HP:0011875	Abnormal platelet morphology	50485	SMARCAL1	ORPHA:1830
HP:0011875	Abnormal platelet morphology	50485	SMARCAL1	OMIM:242900
HP:0011875	Abnormal platelet morphology	2542	SLC37A4	OMIM:619525
HP:0011875	Abnormal platelet morphology	7841	MOGS	ORPHA:79330
HP:0011875	Abnormal platelet morphology	540	ATP7B	OMIM:277900
HP:0011875	Abnormal platelet morphology	540	ATP7B	ORPHA:905
HP:0011875	Abnormal platelet morphology	19	ABCA1	ORPHA:31150
HP:0011875	Abnormal platelet morphology	9968	MED12	OMIM:301068
HP:0011875	Abnormal platelet morphology	2189	FANCG	OMIM:614082
HP:0011875	Abnormal platelet morphology	2189	FANCG	ORPHA:84
HP:0011875	Abnormal platelet morphology	5692	PSMB4	OMIM:617591
HP:0011875	Abnormal platelet morphology	5698	PSMB9	OMIM:617591
HP:0011875	Abnormal platelet morphology	6603	SMARCD2	OMIM:617475
HP:0011875	Abnormal platelet morphology	25836	NIPBL	OMIM:122470
HP:0011875	Abnormal platelet morphology	79087	ALG12	ORPHA:79324
HP:0011875	Abnormal platelet morphology	79053	ALG8	ORPHA:79325
HP:0011875	Abnormal platelet morphology	79053	ALG8	OMIM:608104
HP:0011875	Abnormal platelet morphology	51311	TLR8	OMIM:301078
HP:0011875	Abnormal platelet morphology	2629	GBA1	ORPHA:77261
HP:0011875	Abnormal platelet morphology	2629	GBA1	ORPHA:77259
HP:0011875	Abnormal platelet morphology	2629	GBA1	OMIM:230800
HP:0011875	Abnormal platelet morphology	2629	GBA1	ORPHA:2072
HP:0011875	Abnormal platelet morphology	2629	GBA1	OMIM:230900
HP:0011875	Abnormal platelet morphology	2629	GBA1	OMIM:608013
HP:0011875	Abnormal platelet morphology	2629	GBA1	OMIM:231000
HP:0011875	Abnormal platelet morphology	2629	GBA1	ORPHA:85212
HP:0011875	Abnormal platelet morphology	51645	PPIL1	OMIM:619301
HP:0011875	Abnormal platelet morphology	51362	CDC40	OMIM:619302
HP:0011875	Abnormal platelet morphology	81570	CLPB	OMIM:616271
HP:0011875	Abnormal platelet morphology	10459	MAD2L2	OMIM:617243
HP:0011875	Abnormal platelet morphology	10459	MAD2L2	ORPHA:84
HP:0011875	Abnormal platelet morphology	6654	SOS1	OMIM:610733
HP:0011875	Abnormal platelet morphology	5277	PIGA	OMIM:301072
HP:0011875	Abnormal platelet morphology	5277	PIGA	ORPHA:447
HP:0011875	Abnormal platelet morphology	4594	MMUT	ORPHA:79312
HP:0011875	Abnormal platelet morphology	4594	MMUT	ORPHA:289916
HP:0011875	Abnormal platelet morphology	4594	MMUT	OMIM:251000
HP:0011875	Abnormal platelet morphology	2187	FANCB	OMIM:300514
HP:0011875	Abnormal platelet morphology	2187	FANCB	ORPHA:84
HP:0011875	Abnormal platelet morphology	4179	CD46	OMIM:612922
HP:0011875	Abnormal platelet morphology	4179	CD46	ORPHA:244242
HP:0011875	Abnormal platelet morphology	6916	TBXAS1	OMIM:231095
HP:0011875	Abnormal platelet morphology	629	CFB	OMIM:612924
HP:0011875	Abnormal platelet morphology	3426	CFI	OMIM:612923
HP:0011875	Abnormal platelet morphology	3426	CFI	ORPHA:244242
HP:0011875	Abnormal platelet morphology	959	CD40LG	OMIM:308230
HP:0011875	Abnormal platelet morphology	7056	THBD	OMIM:612926
HP:0011875	Abnormal platelet morphology	718	C3	OMIM:612925
HP:0011875	Abnormal platelet morphology	201294	UNC13D	ORPHA:540
HP:0011875	Abnormal platelet morphology	6813	STXBP2	ORPHA:540
HP:0011875	Abnormal platelet morphology	6813	STXBP2	OMIM:613101
HP:0011875	Abnormal platelet morphology	6888	TALDO1	ORPHA:101028
HP:0011875	Abnormal platelet morphology	6888	TALDO1	OMIM:606003
HP:0011875	Abnormal platelet morphology	58484	NLRC4	OMIM:616050
HP:0011875	Abnormal platelet morphology	29887	SNX10	OMIM:615085
HP:0011875	Abnormal platelet morphology	23395	LARS2	OMIM:617021
HP:0011875	Abnormal platelet morphology	51119	SBDS	OMIM:260400
HP:0011875	Abnormal platelet morphology	51119	SBDS	ORPHA:811
HP:0011875	Abnormal platelet morphology	51119	SBDS	ORPHA:88
HP:0011875	Abnormal platelet morphology	134218	DNAJC21	OMIM:260400
HP:0011875	Abnormal platelet morphology	134218	DNAJC21	OMIM:617052
HP:0011875	Abnormal platelet morphology	134218	DNAJC21	ORPHA:811
HP:0011875	Abnormal platelet morphology	6729	SRP54	OMIM:260400
HP:0011875	Abnormal platelet morphology	6729	SRP54	ORPHA:811
HP:0011875	Abnormal platelet morphology	4952	OCRL	ORPHA:534
HP:0011875	Abnormal platelet morphology	331	XIAP	OMIM:308240
HP:0011875	Abnormal platelet morphology	4068	SH2D1A	OMIM:308240
HP:0011875	Abnormal platelet morphology	427	ASAH1	ORPHA:333
HP:0011875	Abnormal platelet morphology	537	ATP6AP1	OMIM:300972
HP:0011875	Abnormal platelet morphology	7922	SLC39A7	OMIM:619693
HP:0011875	Abnormal platelet morphology	50619	DEF6	OMIM:619573
HP:0011875	Abnormal platelet morphology	8260	NAA10	OMIM:300855
HP:0011875	Abnormal platelet morphology	3394	IRF8	OMIM:226990
HP:0011875	Abnormal platelet morphology	11274	USP18	OMIM:617397
HP:0011875	Abnormal platelet morphology	1312	COMT	ORPHA:567
HP:0011875	Abnormal platelet morphology	221037	JMJD1C	ORPHA:567
HP:0011875	Abnormal platelet morphology	6239	RREB1	ORPHA:567
HP:0011875	Abnormal platelet morphology	6899	TBX1	ORPHA:567
HP:0011875	Abnormal platelet morphology	6899	TBX1	OMIM:188400
HP:0011875	Abnormal platelet morphology	7290	HIRA	ORPHA:567
HP:0011875	Abnormal platelet morphology	9632	SEC24C	ORPHA:567
HP:0011875	Abnormal platelet morphology	7353	UFD1	ORPHA:567
HP:0011875	Abnormal platelet morphology	421	ARVCF	ORPHA:567
HP:0011875	Abnormal platelet morphology	55750	AGK	OMIM:212350
HP:0011875	Abnormal platelet morphology	26276	VPS33B	OMIM:208085
HP:0011875	Abnormal platelet morphology	546	ATRX	ORPHA:231401
HP:0011875	Abnormal platelet morphology	55340	GIMAP5	OMIM:619463
HP:0011875	Abnormal platelet morphology	56244	BTNL2	ORPHA:797
HP:0011875	Abnormal platelet morphology	3123	HLA-DRB1	ORPHA:797
HP:0011875	Abnormal platelet morphology	5660	PSAP	OMIM:610539
HP:0011875	Abnormal platelet morphology	54809	SAMD9	OMIM:617053
HP:0011875	Abnormal platelet morphology	54809	SAMD9	OMIM:619041
HP:0011875	Abnormal platelet morphology	55651	NHP2	OMIM:224230
HP:0011875	Abnormal platelet morphology	55651	NHP2	OMIM:613987
HP:0011875	Abnormal platelet morphology	55651	NHP2	ORPHA:1775
HP:0011875	Abnormal platelet morphology	55505	NOP10	OMIM:224230
HP:0011875	Abnormal platelet morphology	55505	NOP10	ORPHA:1775
HP:0011875	Abnormal platelet morphology	8567	MADD	OMIM:619004
HP:0011875	Abnormal platelet morphology	8567	MADD	OMIM:619005
HP:0011875	Abnormal platelet morphology	29123	ANKRD11	ORPHA:261250
HP:0011875	Abnormal platelet morphology	6786	STIM1	OMIM:185070
HP:0011875	Abnormal platelet morphology	6786	STIM1	OMIM:612783
HP:0011875	Abnormal platelet morphology	6948	TCN2	ORPHA:859
HP:0011875	Abnormal platelet morphology	3516	RBPJ	ORPHA:974
HP:0011875	Abnormal platelet morphology	4851	NOTCH1	ORPHA:974
HP:0011875	Abnormal platelet morphology	57514	ARHGAP31	ORPHA:974
HP:0011875	Abnormal platelet morphology	57572	DOCK6	ORPHA:974
HP:0011875	Abnormal platelet morphology	285203	EOGT	ORPHA:974
HP:0011875	Abnormal platelet morphology	54567	DLL4	ORPHA:974
HP:0011875	Abnormal platelet morphology	199221	DZIP1L	ORPHA:731
HP:0011875	Abnormal platelet morphology	5314	PKHD1	ORPHA:731
HP:0011875	Abnormal platelet morphology	2177	FANCD2	OMIM:227646
HP:0011875	Abnormal platelet morphology	2177	FANCD2	ORPHA:84
HP:0011875	Abnormal platelet morphology	2176	FANCC	OMIM:227645
HP:0011875	Abnormal platelet morphology	2176	FANCC	ORPHA:84
HP:0011875	Abnormal platelet morphology	7390	UROS	OMIM:263700
HP:0011875	Abnormal platelet morphology	7390	UROS	ORPHA:79277
HP:0011875	Abnormal platelet morphology	51371	POMP	OMIM:618048
HP:0011875	Abnormal platelet morphology	5557	PRIM1	OMIM:620005
HP:0011875	Abnormal platelet morphology	4683	NBN	ORPHA:647
HP:0011875	Abnormal platelet morphology	4683	NBN	OMIM:251260
HP:0011875	Abnormal platelet morphology	1719	DHFR	OMIM:613839
HP:0011875	Abnormal platelet morphology	5371	PML	ORPHA:520
HP:0011875	Abnormal platelet morphology	5914	RARA	ORPHA:520
HP:0011875	Abnormal platelet morphology	81608	FIP1L1	ORPHA:520
HP:0011875	Abnormal platelet morphology	4869	NPM1	ORPHA:520
HP:0011875	Abnormal platelet morphology	4869	NPM1	ORPHA:1775
HP:0011875	Abnormal platelet morphology	5573	PRKAR1A	ORPHA:520
HP:0011875	Abnormal platelet morphology	54880	BCOR	ORPHA:520
HP:0011875	Abnormal platelet morphology	64859	NABP1	ORPHA:520
HP:0011875	Abnormal platelet morphology	6777	STAT5B	ORPHA:520
HP:0011875	Abnormal platelet morphology	4926	NUMA1	ORPHA:520
HP:0011875	Abnormal platelet morphology	7704	ZBTB16	ORPHA:520
HP:0011875	Abnormal platelet morphology	79718	TBL1XR1	ORPHA:520
HP:0011875	Abnormal platelet morphology	5696	PSMB8	OMIM:256040
HP:0011875	Abnormal platelet morphology	54938	SARS2	OMIM:613845
HP:0011875	Abnormal platelet morphology	128	ADH5	OMIM:619151
HP:0011875	Abnormal platelet morphology	171023	ASXL1	ORPHA:98850
HP:0011875	Abnormal platelet morphology	171023	ASXL1	ORPHA:98849
HP:0011875	Abnormal platelet morphology	867	CBL	ORPHA:98850
HP:0011875	Abnormal platelet morphology	6427	SRSF2	ORPHA:98850
HP:0011875	Abnormal platelet morphology	6427	SRSF2	ORPHA:98849
HP:0011875	Abnormal platelet morphology	10312	TCIRG1	OMIM:259700
HP:0011875	Abnormal platelet morphology	10312	TCIRG1	ORPHA:210110
HP:0011875	Abnormal platelet morphology	3815	KIT	ORPHA:98849
HP:0011875	Abnormal platelet morphology	10667	FARS2	OMIM:614946
HP:0011875	Abnormal platelet morphology	55788	LMBRD1	OMIM:277380
HP:0011875	Abnormal platelet morphology	3141	HLCS	OMIM:253270
HP:0011875	Abnormal platelet morphology	3141	HLCS	ORPHA:79242
HP:0011875	Abnormal platelet morphology	7015	TERT	OMIM:613989
HP:0011875	Abnormal platelet morphology	7015	TERT	ORPHA:88
HP:0011875	Abnormal platelet morphology	7015	TERT	ORPHA:3322
HP:0011875	Abnormal platelet morphology	7015	TERT	OMIM:127550
HP:0011875	Abnormal platelet morphology	7015	TERT	ORPHA:1775
HP:0011875	Abnormal platelet morphology	79631	EFL1	ORPHA:811
HP:0011875	Abnormal platelet morphology	79631	EFL1	OMIM:617941
HP:0011875	Abnormal platelet morphology	2533	FYB1	OMIM:273900
HP:0011875	Abnormal platelet morphology	25839	COG4	ORPHA:263501
HP:0011875	Abnormal platelet morphology	7012	TERC	ORPHA:88
HP:0011875	Abnormal platelet morphology	7012	TERC	OMIM:127550
HP:0011875	Abnormal platelet morphology	7012	TERC	ORPHA:1775
HP:0011875	Abnormal platelet morphology	9630	GNA14	ORPHA:1063
HP:0011875	Abnormal platelet morphology	26277	TINF2	OMIM:613990
HP:0011875	Abnormal platelet morphology	26277	TINF2	ORPHA:3322
HP:0011875	Abnormal platelet morphology	26277	TINF2	OMIM:127550
HP:0011875	Abnormal platelet morphology	26277	TINF2	ORPHA:1775
HP:0011875	Abnormal platelet morphology	348	APOE	OMIM:269600
HP:0011875	Abnormal platelet morphology	348	APOE	ORPHA:158029
HP:0011875	Abnormal platelet morphology	3988	LIPA	OMIM:278000
HP:0011875	Abnormal platelet morphology	55858	TMEM165	OMIM:614727
HP:0011875	Abnormal platelet morphology	9103	FCGR2C	ORPHA:3002
HP:0011875	Abnormal platelet morphology	672	BRCA1	ORPHA:84
HP:0011875	Abnormal platelet morphology	7516	XRCC2	ORPHA:84
HP:0011875	Abnormal platelet morphology	29089	UBE2T	ORPHA:84
HP:0011875	Abnormal platelet morphology	29089	UBE2T	OMIM:616435
HP:0011875	Abnormal platelet morphology	675	BRCA2	ORPHA:84
HP:0011875	Abnormal platelet morphology	55120	FANCL	ORPHA:84
HP:0011875	Abnormal platelet morphology	2178	FANCE	ORPHA:84
HP:0011875	Abnormal platelet morphology	2178	FANCE	OMIM:600901
HP:0011875	Abnormal platelet morphology	5888	RAD51	ORPHA:84
HP:0011875	Abnormal platelet morphology	5889	RAD51C	ORPHA:84
HP:0011875	Abnormal platelet morphology	55159	RFWD3	ORPHA:84
HP:0011875	Abnormal platelet morphology	83990	BRIP1	ORPHA:84
HP:0011875	Abnormal platelet morphology	57697	FANCM	ORPHA:84
HP:0011875	Abnormal platelet morphology	79728	PALB2	ORPHA:84
HP:0011875	Abnormal platelet morphology	84464	SLX4	ORPHA:84
HP:0011875	Abnormal platelet morphology	2072	ERCC4	ORPHA:84
HP:0011875	Abnormal platelet morphology	55215	FANCI	ORPHA:84
HP:0011875	Abnormal platelet morphology	5095	PCCA	OMIM:606054
HP:0011875	Abnormal platelet morphology	5096	PCCB	OMIM:606054
HP:0011875	Abnormal platelet morphology	7466	WFS1	OMIM:222300
HP:0011875	Abnormal platelet morphology	10352	WARS2	ORPHA:572798
HP:0011875	Abnormal platelet morphology	10352	WARS2	OMIM:617710
HP:0011875	Abnormal platelet morphology	342618	SLFN14	OMIM:616913
HP:0011875	Abnormal platelet morphology	4598	MVK	OMIM:610377
HP:0011875	Abnormal platelet morphology	113235	SLC46A1	OMIM:229050
HP:0011875	Abnormal platelet morphology	113235	SLC46A1	ORPHA:90045
HP:0011875	Abnormal platelet morphology	28976	ACAD9	ORPHA:99901
HP:0011875	Abnormal platelet morphology	28976	ACAD9	OMIM:611126
HP:0011875	Abnormal platelet morphology	5826	ABCD4	OMIM:614857
HP:0011875	Abnormal platelet morphology	2321	FLT1	ORPHA:275555
HP:0011875	Abnormal platelet morphology	219736	STOX1	ORPHA:275555
HP:0011875	Abnormal platelet morphology	10699	CORIN	ORPHA:275555
HP:0011875	Abnormal platelet morphology	375748	ERCC6L2	OMIM:615715
HP:0011875	Abnormal platelet morphology	157570	ESCO2	ORPHA:3103
HP:0011875	Abnormal platelet morphology	2624	GATA2	ORPHA:3226
HP:0011875	Abnormal platelet morphology	55719	SLF2	OMIM:620184
HP:0011875	Abnormal platelet morphology	23137	SMC5	OMIM:620185
HP:0011875	Abnormal platelet morphology	55027	HEATR3	OMIM:620072
HP:0011875	Abnormal platelet morphology	26227	PHGDH	OMIM:601815
HP:0011875	Abnormal platelet morphology	6714	SRC	OMIM:616937
HP:0011875	Abnormal platelet morphology	695	BTK	ORPHA:47
HP:0011875	Abnormal platelet morphology	4846	NOS3	OMIM:189800
HP:0011875	Abnormal platelet morphology	1186	CLCN7	OMIM:611490
HP:0011875	Abnormal platelet morphology	1186	CLCN7	ORPHA:210110
HP:0011875	Abnormal platelet morphology	7450	VWF	OMIM:613554
HP:0011875	Abnormal platelet morphology	7450	VWF	OMIM:277480
HP:0011875	Abnormal platelet morphology	9939	RBM8A	ORPHA:3320
HP:0011875	Abnormal platelet morphology	9939	RBM8A	OMIM:274000
HP:0011875	Abnormal platelet morphology	51750	RTEL1	ORPHA:3322
HP:0011875	Abnormal platelet morphology	51750	RTEL1	ORPHA:1775
HP:0011875	Abnormal platelet morphology	65057	ACD	ORPHA:3322
HP:0011875	Abnormal platelet morphology	5073	PARN	ORPHA:3322
HP:0011875	Abnormal platelet morphology	5073	PARN	ORPHA:1775
HP:0011875	Abnormal platelet morphology	28962	OSTM1	OMIM:259720
HP:0011875	Abnormal platelet morphology	51095	TRNT1	OMIM:616959
HP:0011875	Abnormal platelet morphology	3075	CFH	OMIM:235400
HP:0011875	Abnormal platelet morphology	3075	CFH	ORPHA:244242
HP:0011875	Abnormal platelet morphology	3078	CFHR1	OMIM:235400
HP:0011875	Abnormal platelet morphology	10878	CFHR3	OMIM:235400
HP:0011875	Abnormal platelet morphology	8600	TNFSF11	OMIM:259710
HP:0011875	Abnormal platelet morphology	2982	GUCY1A1	OMIM:615750
HP:0011875	Abnormal platelet morphology	2982	GUCY1A1	ORPHA:401945
HP:0011875	Abnormal platelet morphology	3932	LCK	OMIM:615758
HP:0011875	Abnormal platelet morphology	6775	STAT4	ORPHA:93552
HP:0011875	Abnormal platelet morphology	6696	SPP1	ORPHA:93552
HP:0011875	Abnormal platelet morphology	3654	IRAK1	ORPHA:93552
HP:0011875	Abnormal platelet morphology	6261	RYR1	ORPHA:466650
HP:0011875	Abnormal platelet morphology	55593	OTUD5	OMIM:301056
HP:0011875	Abnormal platelet morphology	7317	UBA1	OMIM:301054
HP:0011875	Abnormal platelet morphology	10560	SLC19A2	ORPHA:49827
HP:0011875	Abnormal platelet morphology	10560	SLC19A2	OMIM:249270
HP:0011875	Abnormal platelet morphology	11093	ADAMTS13	OMIM:274150
HP:0011875	Abnormal platelet morphology	1287	COL4A5	OMIM:301050
HP:0011875	Abnormal platelet morphology	79840	NHEJ1	ORPHA:169079
HP:0011875	Abnormal platelet morphology	3106	HLA-B	ORPHA:36426
HP:0011875	Abnormal platelet morphology	10320	IKZF1	ORPHA:36426
HP:0011875	Abnormal platelet morphology	7128	TNFAIP3	OMIM:616744
HP:0011875	Abnormal platelet morphology	10095	ARPC1B	OMIM:617718
HP:0011875	Abnormal platelet morphology	3431	SP110	ORPHA:79124
HP:0011875	Abnormal platelet morphology	3712	IVD	OMIM:243500
HP:0011875	Abnormal platelet morphology	8985	PLOD3	OMIM:612394
HP:0011875	Abnormal platelet morphology	57511	COG6	OMIM:614576
HP:0011875	Abnormal platelet morphology	2475	MTOR	OMIM:616638
HP:0011875	Abnormal platelet morphology	326625	MMAB	OMIM:251110
HP:0011875	Abnormal platelet morphology	760	CA2	ORPHA:2785
HP:0011875	Abnormal platelet morphology	9842	PLEKHM1	ORPHA:210110
HP:0011875	Abnormal platelet morphology	2065	ERBB3	OMIM:133180
HP:0011875	Abnormal platelet morphology	101101692	HELLPAR	ORPHA:244242
HP:0011875	Abnormal platelet morphology	100506658	OCLN	OMIM:251290
HP:0011875	Abnormal platelet morphology	5294	PIK3CG	OMIM:619802
HP:0011875	Abnormal platelet morphology	25974	MMACHC	ORPHA:79282
HP:0011875	Abnormal platelet morphology	25974	MMACHC	OMIM:277400
HP:0011875	Abnormal platelet morphology	80169	CTC1	OMIM:612199
HP:0011875	Abnormal platelet morphology	80169	CTC1	ORPHA:1775
HP:0011875	Abnormal platelet morphology	79650	USB1	ORPHA:1775
HP:0011875	Abnormal platelet morphology	55135	WRAP53	ORPHA:1775
HP:0011875	Abnormal platelet morphology	7298	TYMS	ORPHA:1775
HP:0011875	Abnormal platelet morphology	2212	FCGR2A	OMIM:152700
HP:0011875	Abnormal platelet morphology	2213	FCGR2B	OMIM:152700
HP:0011875	Abnormal platelet morphology	26191	PTPN22	OMIM:152700
HP:0011875	Abnormal platelet morphology	1773	DNASE1	OMIM:152700
HP:0011875	Abnormal platelet morphology	1794	DOCK2	OMIM:616433
HP:0011875	Abnormal platelet morphology	5052	PRDX1	OMIM:277400
HP:0011875	Abnormal platelet morphology	38	ACAT1	ORPHA:134
HP:0011875	Abnormal platelet morphology	3043	HBB	ORPHA:232
HP:0011875	Abnormal platelet morphology	9051	PSTPIP1	OMIM:604416
HP:0011875	Abnormal platelet morphology	4352	MPL	ORPHA:71493
HP:0011875	Abnormal platelet morphology	4352	MPL	ORPHA:824
HP:0011875	Abnormal platelet morphology	4352	MPL	OMIM:601977
HP:0011875	Abnormal platelet morphology	7066	THPO	ORPHA:71493
HP:0011875	Abnormal platelet morphology	7066	THPO	OMIM:187950
HP:0011875	Abnormal platelet morphology	3717	JAK2	ORPHA:71493
HP:0011875	Abnormal platelet morphology	3717	JAK2	OMIM:263300
HP:0011875	Abnormal platelet morphology	3717	JAK2	OMIM:614521
HP:0011875	Abnormal platelet morphology	3717	JAK2	ORPHA:824
HP:0011875	Abnormal platelet morphology	3155	HMGCL	ORPHA:20
HP:0011875	Abnormal platelet morphology	5966	REL	OMIM:619652
HP:0011875	Abnormal platelet morphology	57217	TTC7A	OMIM:243150
HP:0011875	Abnormal platelet morphology	9652	SKIC3	OMIM:222470
HP:0011875	Abnormal platelet morphology	9652	SKIC3	ORPHA:84064
HP:0011875	Abnormal platelet morphology	6208	RPS14	ORPHA:86841
HP:0011875	Abnormal platelet morphology	3783	KCNN4	OMIM:616689
HP:0011875	Abnormal platelet morphology	3458	IFNG	OMIM:618963
HP:0011875	Abnormal platelet morphology	340061	STING1	OMIM:615934
HP:0011875	Abnormal platelet morphology	811	CALR	ORPHA:824
HP:0011875	Abnormal platelet morphology	811	CALR	OMIM:187950
HP:0011875	Abnormal platelet morphology	54790	TET2	ORPHA:824
HP:0011875	Abnormal platelet morphology	54790	TET2	ORPHA:75564
HP:0011875	Abnormal platelet morphology	3117	HLA-DQA1	OMIM:212750
HP:0011875	Abnormal platelet morphology	3119	HLA-DQB1	OMIM:212750
HP:0011875	Abnormal platelet morphology	526	ATP6V1B2	ORPHA:79500
HP:0011875	Abnormal platelet morphology	57465	TBC1D24	ORPHA:79500
HP:0011875	Abnormal platelet morphology	6223	RPS19	OMIM:105650
HP:0011875	Abnormal platelet morphology	6223	RPS19	ORPHA:124
HP:0011875	Abnormal platelet morphology	23451	SF3B1	ORPHA:75564
HP:0011875	Abnormal platelet morphology	5293	PIK3CD	OMIM:619281
HP:0011875	Abnormal platelet morphology	613	BCR	ORPHA:521
HP:0011875	Abnormal platelet morphology	25	ABL1	ORPHA:521
HP:0011875	Abnormal platelet morphology	861	RUNX1	ORPHA:521
HP:0011875	Abnormal platelet morphology	6135	RPL11	ORPHA:124
HP:0011875	Abnormal platelet morphology	6138	RPL15	ORPHA:124
HP:0011875	Abnormal platelet morphology	6229	RPS24	ORPHA:124
HP:0011875	Abnormal platelet morphology	6125	RPL5	ORPHA:124
HP:0011875	Abnormal platelet morphology	6204	RPS10	ORPHA:124
HP:0011875	Abnormal platelet morphology	6224	RPS20	ORPHA:124
HP:0011875	Abnormal platelet morphology	6165	RPL35A	ORPHA:124
HP:0011875	Abnormal platelet morphology	2623	GATA1	ORPHA:124
HP:0011875	Abnormal platelet morphology	6232	RPS27	ORPHA:124
HP:0011875	Abnormal platelet morphology	6231	RPS26	ORPHA:124
HP:0011875	Abnormal platelet morphology	11224	RPL35	ORPHA:124
HP:0011875	Abnormal platelet morphology	6160	RPL31	ORPHA:124
HP:0011875	Abnormal platelet morphology	6218	RPS17	ORPHA:124
HP:0011875	Abnormal platelet morphology	6201	RPS7	ORPHA:124
HP:0011875	Abnormal platelet morphology	6155	RPL27	ORPHA:124
HP:0011875	Abnormal platelet morphology	6154	RPL26	ORPHA:124
HP:0011875	Abnormal platelet morphology	6210	RPS15A	ORPHA:124
HP:0011875	Abnormal platelet morphology	90121	TSR2	ORPHA:124
HP:0011875	Abnormal platelet morphology	6141	RPL18	ORPHA:124
HP:0011875	Abnormal platelet morphology	6235	RPS29	ORPHA:124
HP:0011875	Abnormal platelet morphology	6234	RPS28	ORPHA:124
HP:0011875	Abnormal platelet morphology	51816	ADA2	ORPHA:124
HP:0011875	Abnormal platelet morphology	51816	ADA2	OMIM:615688
HP:0011875	Abnormal platelet morphology	2000	ELF4	OMIM:301074
HP:0011875	Abnormal platelet morphology	10019	SH2B3	OMIM:187950
HP:0011875	Abnormal platelet morphology	4522	MTHFD1	OMIM:617780
HP:0011875	Abnormal platelet morphology	1604	CD55	OMIM:226300
HP:0011875	Abnormal platelet morphology	144811	LACC1	OMIM:618795
HP:0011875	Abnormal platelet morphology	7040	TGFB1	OMIM:618213
HP:0011875	Abnormal platelet morphology	4141	MARS1	OMIM:615486
HP:0011875	Abnormal platelet morphology	3162	HMOX1	OMIM:614034
HP:0011875	Abnormal platelet morphology	6499	SKIC2	ORPHA:84064
HP:0011875	Abnormal platelet morphology	3459	IFNGR1	OMIM:209950
HP:0011875	Abnormal platelet morphology	1991	ELANE	OMIM:202700
HP:0011875	Abnormal platelet morphology	5373	PMM2	OMIM:212065
HP:0011875	Abnormal platelet morphology	3921	RPSA	OMIM:271400
HP:0011875	Abnormal platelet morphology	3930	LBR	OMIM:169400
HP:0011875	Abnormal platelet morphology	948	CD36	OMIM:608404
HP:0011875	Abnormal platelet morphology	9382	COG1	OMIM:611209
HP:0011875	Abnormal platelet morphology	64241	ABCG8	OMIM:210250
HP:0011875	Abnormal platelet morphology	6773	STAT2	OMIM:618886
HP:0011875	Abnormal platelet morphology	2122	MECOM	OMIM:616738
HP:0011875	Abnormal platelet morphology	3207	HOXA11	OMIM:605432
HP:0011875	Abnormal platelet morphology	355	FAS	ORPHA:3261
HP:0011875	Abnormal platelet morphology	355	FAS	OMIM:601859
HP:0011875	Abnormal platelet morphology	356	FASLG	ORPHA:3261
HP:0011875	Abnormal platelet morphology	356	FASLG	OMIM:601859
HP:0011875	Abnormal platelet morphology	5580	PRKCD	ORPHA:3261
HP:0011875	Abnormal platelet morphology	5580	PRKCD	OMIM:615559
HP:0011875	Abnormal platelet morphology	5580	PRKCD	ORPHA:1572
HP:0011875	Abnormal platelet morphology	843	CASP10	ORPHA:3261
HP:0011875	Abnormal platelet morphology	843	CASP10	OMIM:603909
HP:0011875	Abnormal platelet morphology	10125	RASGRP1	ORPHA:3261
HP:0011875	Abnormal platelet morphology	10125	RASGRP1	OMIM:618534
HP:0011875	Abnormal platelet morphology	6772	STAT1	ORPHA:391487
HP:0011875	Abnormal platelet morphology	10043	TOM1	ORPHA:391487
HP:0011875	Abnormal platelet morphology	4791	NFKB2	ORPHA:293978
HP:0011875	Abnormal platelet morphology	4791	NFKB2	ORPHA:1572
HP:0011875	Abnormal platelet morphology	3702	ITK	OMIM:613011
HP:0011875	Abnormal platelet morphology	975	CD81	OMIM:613496
HP:0011875	Abnormal platelet morphology	975	CD81	ORPHA:1572
HP:0011875	Abnormal platelet morphology	6774	STAT3	OMIM:615952
HP:0011875	Abnormal platelet morphology	4860	PNP	OMIM:613179
HP:0011875	Abnormal platelet morphology	4860	PNP	ORPHA:760
HP:0011875	Abnormal platelet morphology	987	LRBA	OMIM:614700
HP:0011875	Abnormal platelet morphology	54440	SASH3	OMIM:301082
HP:0011875	Abnormal platelet morphology	50943	FOXP3	OMIM:304790
HP:0011875	Abnormal platelet morphology	50943	FOXP3	ORPHA:37042
HP:0011875	Abnormal platelet morphology	7174	TPP2	ORPHA:444463
HP:0011875	Abnormal platelet morphology	7174	TPP2	OMIM:619220
HP:0011875	Abnormal platelet morphology	51284	TLR7	OMIM:301080
HP:0011875	Abnormal platelet morphology	3575	IL7R	ORPHA:169154
HP:0011875	Abnormal platelet morphology	3845	KRAS	OMIM:614470
HP:0011875	Abnormal platelet morphology	4893	NRAS	OMIM:614470
HP:0011875	Abnormal platelet morphology	56259	CTNNBL1	OMIM:619846
HP:0011875	Abnormal platelet morphology	5994	RFXAP	ORPHA:572
HP:0011875	Abnormal platelet morphology	4261	CIITA	ORPHA:572
HP:0011875	Abnormal platelet morphology	5993	RFX5	ORPHA:572
HP:0011875	Abnormal platelet morphology	8625	RFXANK	ORPHA:572
HP:0011875	Abnormal platelet morphology	54	ACP5	OMIM:607944
HP:0011875	Abnormal platelet morphology	54	ACP5	ORPHA:1855
HP:0011875	Abnormal platelet morphology	6609	SMPD1	ORPHA:77293
HP:0011875	Abnormal platelet morphology	84061	MAGT1	OMIM:300853
HP:0011875	Abnormal platelet morphology	8651	SOCS1	OMIM:619375
HP:0011875	Abnormal platelet morphology	1493	CTLA4	OMIM:616100
HP:0011875	Abnormal platelet morphology	27040	LAT	OMIM:617514
HP:0011875	Abnormal platelet morphology	100	ADA	OMIM:102700
HP:0011875	Abnormal platelet morphology	2581	GALC	OMIM:245200
HP:0011875	Abnormal platelet morphology	23495	TNFRSF13B	ORPHA:1572
HP:0011875	Abnormal platelet morphology	4790	NFKB1	ORPHA:1572
HP:0011875	Abnormal platelet morphology	115650	TNFRSF13C	ORPHA:1572
HP:0011875	Abnormal platelet morphology	1380	CR2	ORPHA:1572
HP:0011875	Abnormal platelet morphology	8742	TNFSF12	ORPHA:1572
HP:0011875	Abnormal platelet morphology	930	CD19	ORPHA:1572
HP:0011875	Abnormal platelet morphology	29851	ICOS	ORPHA:1572
HP:0011875	Abnormal platelet morphology	931	MS4A1	ORPHA:1572
HP:0011875	Abnormal platelet morphology	359948	IRF2BP2	ORPHA:1572
HP:0011875	Abnormal platelet morphology	9138	ARHGEF1	OMIM:618459
HP:0011875	Abnormal platelet morphology	7535	ZAP70	ORPHA:911
HP:0011875	Abnormal platelet morphology	8085	KMT2D	OMIM:147920
HP:0011875	Abnormal platelet morphology	7403	KDM6A	OMIM:147920
HP:0011875	Abnormal platelet morphology	10535	RNASEH2A	ORPHA:51
HP:0011875	Abnormal platelet morphology	84153	RNASEH2C	ORPHA:51
HP:0011875	Abnormal platelet morphology	25939	SAMHD1	ORPHA:51
HP:0011875	Abnormal platelet morphology	79621	RNASEH2B	ORPHA:51
HP:0011875	Abnormal platelet morphology	103	ADAR	ORPHA:51
HP:0011875	Abnormal platelet morphology	11277	TREX1	ORPHA:51
HP:0011875	Abnormal platelet morphology	100147744	RNU7-1	ORPHA:51
HP:0011875	Abnormal platelet morphology	134353	LSM11	ORPHA:51
HP:0011875	Abnormal platelet morphology	64135	IFIH1	ORPHA:51
HP:0011875	Abnormal platelet morphology	3673	ITGA2	ORPHA:853
HP:0011875	Abnormal platelet morphology	135228	CD109	ORPHA:853
HP:0011875	Abnormal platelet morphology	92579	G6PC3	OMIM:612541
HP:0011875	Abnormal platelet morphology	9948	WDR1	OMIM:150550
HP:0011875	Abnormal platelet morphology	7037	TFRC	OMIM:616740
HP:0011875	Abnormal platelet morphology	5604	MAP2K1	OMIM:163950
HP:0011875	Abnormal platelet morphology	5781	PTPN11	OMIM:163950
HP:0011875	Abnormal platelet morphology	673	BRAF	OMIM:163950
HP:0011875	Abnormal platelet morphology	51206	GP6	OMIM:614201
HP:0011875	Abnormal platelet morphology	6915	TBXA2R	OMIM:614009
HP:0011875	Abnormal platelet morphology	2038	EPB42	OMIM:612690
HP:0011875	Abnormal platelet morphology	2048	EPHB2	OMIM:618462
HP:0011875	Abnormal platelet morphology	5328	PLAU	OMIM:601709
HP:0011875	Abnormal platelet morphology	7157	TP53	ORPHA:3318
HP:0011875	Abnormal platelet morphology	7454	WAS	ORPHA:906
HP:0011875	Abnormal platelet morphology	7456	WIPF1	ORPHA:906
HP:0011875	Abnormal platelet morphology	54205	CYCS	OMIM:612004
HP:0011875	Abnormal platelet morphology	22852	ANKRD26	OMIM:188000
HP:0011875	Abnormal platelet morphology	3690	ITGB3	OMIM:619271
HP:0011875	Abnormal platelet morphology	998	CDC42	ORPHA:487796
HP:0011875	Abnormal platelet morphology	998	CDC42	OMIM:616737
HP:0011875	Abnormal platelet morphology	2811	GP1BA	OMIM:153670
HP:0011875	Abnormal platelet morphology	4627	MYH9	ORPHA:182050
HP:0011875	Abnormal platelet morphology	87	ACTN1	OMIM:615193
HP:0011875	Abnormal platelet morphology	2316	FLNA	OMIM:300048
HP:0011875	Abnormal platelet morphology	2313	FLI1	OMIM:617443
HP:0011875	Abnormal platelet morphology	6309	SC5D	OMIM:607330
HP:0011875	Abnormal platelet morphology	79803	HPS6	OMIM:614075
HP:0011875	Abnormal platelet morphology	1130	LYST	OMIM:214500
HP:0011875	Abnormal platelet morphology	8328	GFI1B	OMIM:187900
HP:0011875	Abnormal platelet morphology	23218	NBEAL2	OMIM:139090
HP:0011875	Abnormal platelet morphology	84343	HPS3	OMIM:614072
HP:0011875	Abnormal platelet morphology	89781	HPS4	OMIM:614073
HP:0011875	Abnormal platelet morphology	11234	HPS5	OMIM:614074
HP:0011875	Abnormal platelet morphology	8546	AP3B1	OMIM:608233
HP:0011875	Abnormal platelet morphology	63915	BLOC1S5	OMIM:619172
HP:0011875	Abnormal platelet morphology	64376	IKZF5	OMIM:619130
HP:0011875	Abnormal platelet morphology	2815	GP9	OMIM:231200
HP:0011875	Abnormal platelet morphology	2815	GP9	ORPHA:274
HP:0011875	Abnormal platelet morphology	2812	GP1BB	OMIM:231200
HP:0011875	Abnormal platelet morphology	2812	GP1BB	ORPHA:274
HP:0011875	Abnormal platelet morphology	81027	TUBB1	OMIM:613112
HP:0011875	Abnormal platelet morphology	3674	ITGA2B	OMIM:187800
HP:0011875	Abnormal platelet morphology	10559	SLC35A1	OMIM:603585
HP:0011875	Abnormal platelet morphology	1729	DIAPH1	OMIM:124900
HP:0011875	Abnormal platelet morphology	51807	TUBA8	OMIM:619840
HP:0011875	Abnormal platelet morphology	5568	PRKACG	OMIM:616176
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	64376	IKZF5	OMIM:619130
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0011871	Impaired ristocetin-induced platelet aggregation	2815	GP9	OMIM:231200
HP:0011871	Impaired ristocetin-induced platelet aggregation	2815	GP9	ORPHA:274
HP:0011871	Impaired ristocetin-induced platelet aggregation	2811	GP1BA	OMIM:231200
HP:0011871	Impaired ristocetin-induced platelet aggregation	2811	GP1BA	OMIM:153670
HP:0011871	Impaired ristocetin-induced platelet aggregation	2811	GP1BA	ORPHA:274
HP:0011871	Impaired ristocetin-induced platelet aggregation	2812	GP1BB	OMIM:231200
HP:0011871	Impaired ristocetin-induced platelet aggregation	2812	GP1BB	ORPHA:274
HP:0011871	Impaired ristocetin-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0011871	Impaired ristocetin-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0011871	Impaired ristocetin-induced platelet aggregation	3690	ITGB3	OMIM:619267
HP:0011871	Impaired ristocetin-induced platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0011871	Impaired ristocetin-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0011871	Impaired ristocetin-induced platelet aggregation	51206	GP6	OMIM:614201
HP:0011871	Impaired ristocetin-induced platelet aggregation	64376	IKZF5	OMIM:619130
HP:0008821	Hypoplastic inferior ilia	4125	MAN2B1	ORPHA:309282
HP:0008821	Hypoplastic inferior ilia	860	RUNX2	ORPHA:1452
HP:0008821	Hypoplastic inferior ilia	6662	SOX9	ORPHA:140
HP:0008821	Hypoplastic inferior ilia	5130	PCYT1A	OMIM:608940
HP:0008822	Hypoplastic ischiopubic ramus	10060	ABCC9	OMIM:239850
HP:0008823	Inferior pubic ramus hypoplasia	23522	KAT6B	OMIM:606170
HP:0001660	Truncus arteriosus	22827	PUF60	ORPHA:508498
HP:0001660	Truncus arteriosus	22827	PUF60	ORPHA:508488
HP:0001660	Truncus arteriosus	22827	PUF60	OMIM:615583
HP:0001660	Truncus arteriosus	137814	NKX2-6	ORPHA:3384
HP:0001660	Truncus arteriosus	137814	NKX2-6	OMIM:217095
HP:0001660	Truncus arteriosus	23129	PLXND1	ORPHA:3384
HP:0001660	Truncus arteriosus	54567	DLL4	OMIM:616589
HP:0001660	Truncus arteriosus	54916	TMEM260	OMIM:617478
HP:0001660	Truncus arteriosus	5718	PSMD12	OMIM:617516
HP:0001660	Truncus arteriosus	284086	NEK8	OMIM:615415
HP:0001660	Truncus arteriosus	1312	COMT	ORPHA:567
HP:0001660	Truncus arteriosus	221037	JMJD1C	ORPHA:567
HP:0001660	Truncus arteriosus	2812	GP1BB	ORPHA:567
HP:0001660	Truncus arteriosus	6239	RREB1	ORPHA:567
HP:0001660	Truncus arteriosus	6899	TBX1	ORPHA:567
HP:0001660	Truncus arteriosus	6899	TBX1	OMIM:188400
HP:0001660	Truncus arteriosus	6899	TBX1	OMIM:217095
HP:0001660	Truncus arteriosus	7290	HIRA	ORPHA:567
HP:0001660	Truncus arteriosus	9632	SEC24C	ORPHA:567
HP:0001660	Truncus arteriosus	7353	UFD1	ORPHA:567
HP:0001660	Truncus arteriosus	421	ARVCF	ORPHA:567
HP:0001660	Truncus arteriosus	64220	STRA6	OMIM:601186
HP:0001660	Truncus arteriosus	2627	GATA6	OMIM:600001
HP:0001660	Truncus arteriosus	2627	GATA6	OMIM:217095
HP:0001660	Truncus arteriosus	613	BCR	ORPHA:261330
HP:0001660	Truncus arteriosus	1399	CRKL	ORPHA:261330
HP:0001660	Truncus arteriosus	5594	MAPK1	ORPHA:261330
HP:0001660	Truncus arteriosus	2702	GJA5	OMIM:612474
HP:0001660	Truncus arteriosus	2703	GJA8	OMIM:612474
HP:0001660	Truncus arteriosus	3708	ITPR1	OMIM:206700
HP:0001660	Truncus arteriosus	1482	NKX2-5	OMIM:217095
HP:0001662	Bradycardia	4702	NDUFA8	OMIM:619272
HP:0001662	Bradycardia	51422	PRKAG2	OMIM:261740
HP:0001662	Bradycardia	10681	GNB5	OMIM:617173
HP:0001662	Bradycardia	10681	GNB5	OMIM:617182
HP:0001662	Bradycardia	10681	GNB5	ORPHA:542306
HP:0001662	Bradycardia	151648	SGO1	OMIM:616201
HP:0001662	Bradycardia	6331	SCN5A	OMIM:614022
HP:0001662	Bradycardia	6331	SCN5A	ORPHA:1344
HP:0001662	Bradycardia	808	CALM3	OMIM:618782
HP:0001662	Bradycardia	805	CALM2	OMIM:616249
HP:0001662	Bradycardia	5626	PROP1	ORPHA:226307
HP:0001662	Bradycardia	89884	LHX4	ORPHA:226307
HP:0001662	Bradycardia	8022	LHX3	ORPHA:226307
HP:0001662	Bradycardia	5449	POU1F1	ORPHA:226307
HP:0001662	Bradycardia	8820	HESX1	ORPHA:226307
HP:0001662	Bradycardia	79188	TMEM43	OMIM:614302
HP:0001662	Bradycardia	788	SLC25A20	OMIM:212138
HP:0001662	Bradycardia	25821	MTO1	OMIM:614702
HP:0001662	Bradycardia	6335	SCN9A	OMIM:167400
HP:0001662	Bradycardia	3784	KCNQ1	OMIM:609621
HP:0001662	Bradycardia	3784	KCNQ1	ORPHA:51083
HP:0001662	Bradycardia	3909	LAMA3	ORPHA:79404
HP:0001662	Bradycardia	3918	LAMC2	ORPHA:79404
HP:0001662	Bradycardia	3914	LAMB3	ORPHA:79404
HP:0001662	Bradycardia	7849	PAX8	OMIM:218700
HP:0001662	Bradycardia	7259	TSPYL1	OMIM:608800
HP:0001662	Bradycardia	6341	SCO1	OMIM:619048
HP:0001662	Bradycardia	10021	HCN4	OMIM:619521
HP:0001662	Bradycardia	4695	NDUFA2	OMIM:618235
HP:0001662	Bradycardia	51601	LIPT1	OMIM:616299
HP:0001662	Bradycardia	1674	DES	OMIM:601419
HP:0001662	Bradycardia	27068	PPA2	OMIM:617222
HP:0001662	Bradycardia	30008	EFEMP2	OMIM:614437
HP:0001662	Bradycardia	7253	TSHR	ORPHA:90673
HP:0001662	Bradycardia	7252	TSHB	ORPHA:90674
HP:0001662	Bradycardia	54795	TRPM4	OMIM:604559
HP:0001662	Bradycardia	95	ACY1	OMIM:609924
HP:0001662	Bradycardia	775	CACNA1C	OMIM:601005
HP:0001662	Bradycardia	84340	GFM2	ORPHA:565624
HP:0001662	Bradycardia	11274	USP18	OMIM:617397
HP:0001662	Bradycardia	2902	GRIN1	OMIM:619814
HP:0001662	Bradycardia	405753	DUOXA2	ORPHA:95716
HP:0001662	Bradycardia	6528	SLC5A5	ORPHA:95716
HP:0001662	Bradycardia	7038	TG	ORPHA:95716
HP:0001662	Bradycardia	7173	TPO	ORPHA:95716
HP:0001662	Bradycardia	389434	IYD	ORPHA:95716
HP:0001662	Bradycardia	50506	DUOX2	ORPHA:95716
HP:0001662	Bradycardia	4878	NPPA	ORPHA:1344
HP:0001662	Bradycardia	4878	NPPA	OMIM:615745
HP:0001662	Bradycardia	1201	CLN3	ORPHA:228346
HP:0001662	Bradycardia	22845	DOLK	OMIM:610768
HP:0001662	Bradycardia	56652	TWNK	OMIM:609286
HP:0001662	Bradycardia	845	CASQ2	OMIM:611938
HP:0001662	Bradycardia	171023	ASXL1	ORPHA:97297
HP:0001662	Bradycardia	4635	MYL4	OMIM:617280
HP:0001662	Bradycardia	7386	UQCRFS1	OMIM:618775
HP:0001662	Bradycardia	1892	ECHS1	OMIM:616277
HP:0001662	Bradycardia	132158	GLYCTK	OMIM:220120
HP:0001662	Bradycardia	51117	COQ4	OMIM:616276
HP:0001662	Bradycardia	7092	TLL1	OMIM:613087
HP:0001662	Bradycardia	667	DST	OMIM:614653
HP:0001662	Bradycardia	57017	COQ9	OMIM:614654
HP:0001662	Bradycardia	776	CACNA1D	OMIM:614896
HP:0001662	Bradycardia	27429	HTRA2	OMIM:617248
HP:0001662	Bradycardia	221927	BRAT1	OMIM:614498
HP:0001662	Bradycardia	284119	CAVIN1	OMIM:613327
HP:0001662	Bradycardia	2752	GLUL	OMIM:610015
HP:0001662	Bradycardia	6440	SFTPC	ORPHA:70587
HP:0001662	Bradycardia	21	ABCA3	ORPHA:70587
HP:0001662	Bradycardia	6439	SFTPB	ORPHA:70587
HP:0001662	Bradycardia	781	CACNA2D1	ORPHA:51083
HP:0001662	Bradycardia	3759	KCNJ2	ORPHA:51083
HP:0001662	Bradycardia	3757	KCNH2	ORPHA:51083
HP:0001662	Bradycardia	6508	SLC4A3	ORPHA:51083
HP:0001662	Bradycardia	859	CAV3	OMIM:611818
HP:0001662	Bradycardia	859	CAV3	ORPHA:101016
HP:0001662	Bradycardia	801	CALM1	ORPHA:101016
HP:0001662	Bradycardia	3753	KCNE1	ORPHA:101016
HP:0001662	Bradycardia	3753	KCNE1	OMIM:613695
HP:0001662	Bradycardia	3762	KCNJ5	ORPHA:101016
HP:0001662	Bradycardia	6910	TBX5	ORPHA:101016
HP:0001662	Bradycardia	6336	SCN10A	ORPHA:101016
HP:0001662	Bradycardia	9992	KCNE2	ORPHA:101016
HP:0001662	Bradycardia	10142	AKAP9	ORPHA:101016
HP:0001662	Bradycardia	9722	NOS1AP	ORPHA:101016
HP:0001662	Bradycardia	10345	TRDN	ORPHA:101016
HP:0001662	Bradycardia	6330	SCN4B	ORPHA:101016
HP:0001662	Bradycardia	6640	SNTA1	ORPHA:101016
HP:0001662	Bradycardia	287	ANK2	ORPHA:101016
HP:0001662	Bradycardia	287	ANK2	OMIM:600919
HP:0001662	Bradycardia	283446	MYO1H	OMIM:619482
HP:0001662	Bradycardia	4000	LMNA	OMIM:115200
HP:0001662	Bradycardia	341208	HEPHL1	OMIM:261990
HP:0001662	Bradycardia	3741	KCNA5	OMIM:612240
HP:0001662	Bradycardia	2783	GNB2	OMIM:619464
HP:0001662	Bradycardia	51086	TNNI3K	OMIM:616117
HP:0001662	Bradycardia	11149	BVES	OMIM:616812
HP:0001662	Bradycardia	7139	TNNT2	OMIM:601494
HP:0001664	Torsade de pointes	3784	KCNQ1	OMIM:220400
HP:0001664	Torsade de pointes	3784	KCNQ1	ORPHA:101016
HP:0001664	Torsade de pointes	3784	KCNQ1	OMIM:192500
HP:0001664	Torsade de pointes	3784	KCNQ1	ORPHA:90647
HP:0001664	Torsade de pointes	6331	SCN5A	OMIM:603830
HP:0001664	Torsade de pointes	6331	SCN5A	ORPHA:101016
HP:0001664	Torsade de pointes	10021	HCN4	OMIM:163800
HP:0001664	Torsade de pointes	801	CALM1	ORPHA:101016
HP:0001664	Torsade de pointes	3753	KCNE1	ORPHA:101016
HP:0001664	Torsade de pointes	3753	KCNE1	OMIM:613695
HP:0001664	Torsade de pointes	3753	KCNE1	ORPHA:90647
HP:0001664	Torsade de pointes	3753	KCNE1	OMIM:612347
HP:0001664	Torsade de pointes	3762	KCNJ5	ORPHA:101016
HP:0001664	Torsade de pointes	3762	KCNJ5	OMIM:613485
HP:0001664	Torsade de pointes	3762	KCNJ5	ORPHA:37553
HP:0001664	Torsade de pointes	805	CALM2	ORPHA:101016
HP:0001664	Torsade de pointes	6910	TBX5	ORPHA:101016
HP:0001664	Torsade de pointes	6336	SCN10A	ORPHA:101016
HP:0001664	Torsade de pointes	3757	KCNH2	ORPHA:101016
HP:0001664	Torsade de pointes	3757	KCNH2	OMIM:613688
HP:0001664	Torsade de pointes	9992	KCNE2	ORPHA:101016
HP:0001664	Torsade de pointes	9992	KCNE2	OMIM:613693
HP:0001664	Torsade de pointes	10142	AKAP9	ORPHA:101016
HP:0001664	Torsade de pointes	9722	NOS1AP	ORPHA:101016
HP:0001664	Torsade de pointes	775	CACNA1C	ORPHA:101016
HP:0001664	Torsade de pointes	10345	TRDN	ORPHA:101016
HP:0001664	Torsade de pointes	6330	SCN4B	ORPHA:101016
HP:0001664	Torsade de pointes	808	CALM3	ORPHA:101016
HP:0001664	Torsade de pointes	6640	SNTA1	ORPHA:101016
HP:0001664	Torsade de pointes	6640	SNTA1	OMIM:612955
HP:0001664	Torsade de pointes	859	CAV3	ORPHA:101016
HP:0001664	Torsade de pointes	287	ANK2	ORPHA:101016
HP:0001664	Torsade de pointes	6262	RYR2	OMIM:115000
HP:0001664	Torsade de pointes	8260	NAA10	OMIM:300855
HP:0001664	Torsade de pointes	144245	ALG10B	OMIM:613688
HP:0001664	Torsade de pointes	128989	TANGO2	OMIM:616878
HP:0001664	Torsade de pointes	3759	KCNJ2	ORPHA:37553
HP:0001667	Right ventricular hypertrophy	6445	SGCG	ORPHA:353
HP:0001667	Right ventricular hypertrophy	6445	SGCG	OMIM:253700
HP:0001667	Right ventricular hypertrophy	57190	SELENON	ORPHA:324604
HP:0001667	Right ventricular hypertrophy	4625	MYH7	ORPHA:324604
HP:0001667	Right ventricular hypertrophy	7273	TTN	ORPHA:324604
HP:0001667	Right ventricular hypertrophy	2294	FOXF1	OMIM:265380
HP:0001667	Right ventricular hypertrophy	4841	NONO	ORPHA:466791
HP:0001667	Right ventricular hypertrophy	4841	NONO	OMIM:300967
HP:0001667	Right ventricular hypertrophy	137814	NKX2-6	ORPHA:3384
HP:0001667	Right ventricular hypertrophy	23129	PLXND1	ORPHA:3384
HP:0001667	Right ventricular hypertrophy	10617	STAMBP	OMIM:614261
HP:0001667	Right ventricular hypertrophy	10526	IPO8	OMIM:619472
HP:0001667	Right ventricular hypertrophy	79572	ATP13A3	OMIM:265400
HP:0001667	Right ventricular hypertrophy	8425	LTBP4	OMIM:613177
HP:0001667	Right ventricular hypertrophy	4851	NOTCH1	OMIM:616028
HP:0001667	Right ventricular hypertrophy	6439	SFTPB	ORPHA:217563
HP:0001667	Right ventricular hypertrophy	8085	KMT2D	OMIM:620186
HP:0001667	Right ventricular hypertrophy	8604	SLC25A12	OMIM:612949
HP:0001667	Right ventricular hypertrophy	8291	DYSF	ORPHA:268
HP:0001667	Right ventricular hypertrophy	57538	ALPK3	OMIM:618052
HP:0001667	Right ventricular hypertrophy	27031	NPHP3	OMIM:267010
HP:0001667	Right ventricular hypertrophy	23556	PIGN	ORPHA:280633
HP:0001667	Right ventricular hypertrophy	26276	VPS33B	OMIM:208085
HP:0001667	Right ventricular hypertrophy	659	BMPR2	OMIM:178600
HP:0001667	Right ventricular hypertrophy	8292	COLQ	ORPHA:98915
HP:0001667	Right ventricular hypertrophy	3913	LAMB2	ORPHA:98915
HP:0001667	Right ventricular hypertrophy	63894	VIPAS39	OMIM:613404
HP:0001667	Right ventricular hypertrophy	2719	GPC3	OMIM:312870
HP:0001667	Right ventricular hypertrophy	2239	GPC4	OMIM:312870
HP:0001667	Right ventricular hypertrophy	84705	GTPBP3	ORPHA:444013
HP:0001669	Transposition of the great arteries	7547	ZIC3	OMIM:306955
HP:0001669	Transposition of the great arteries	7547	ZIC3	OMIM:314390
HP:0001669	Transposition of the great arteries	7490	WT1	OMIM:608978
HP:0001669	Transposition of the great arteries	7490	WT1	ORPHA:3097
HP:0001669	Transposition of the great arteries	137814	NKX2-6	ORPHA:3384
HP:0001669	Transposition of the great arteries	137814	NKX2-6	OMIM:217095
HP:0001669	Transposition of the great arteries	23129	PLXND1	ORPHA:3384
HP:0001669	Transposition of the great arteries	2657	GDF1	OMIM:208530
HP:0001669	Transposition of the great arteries	2657	GDF1	OMIM:613854
HP:0001669	Transposition of the great arteries	650	BMP2	OMIM:617877
HP:0001669	Transposition of the great arteries	9487	PIGL	OMIM:280000
HP:0001669	Transposition of the great arteries	9487	PIGL	ORPHA:3474
HP:0001669	Transposition of the great arteries	93	ACVR2B	OMIM:613751
HP:0001669	Transposition of the great arteries	4000	LMNA	ORPHA:1662
HP:0001669	Transposition of the great arteries	10269	ZMPSTE24	ORPHA:1662
HP:0001669	Transposition of the great arteries	2627	GATA6	ORPHA:2255
HP:0001669	Transposition of the great arteries	2627	GATA6	OMIM:600001
HP:0001669	Transposition of the great arteries	2627	GATA6	OMIM:217095
HP:0001669	Transposition of the great arteries	490	ATP2B1	OMIM:619910
HP:0001669	Transposition of the great arteries	23389	MED13L	OMIM:616789
HP:0001669	Transposition of the great arteries	2218	FKTN	OMIM:253800
HP:0001669	Transposition of the great arteries	6899	TBX1	ORPHA:1727
HP:0001669	Transposition of the great arteries	6899	TBX1	OMIM:217095
HP:0001669	Transposition of the great arteries	118856	MMP21	OMIM:616749
HP:0001669	Transposition of the great arteries	2626	GATA4	ORPHA:251071
HP:0001669	Transposition of the great arteries	25981	DNAH1	ORPHA:244
HP:0001669	Transposition of the great arteries	115948	ODAD3	ORPHA:244
HP:0001669	Transposition of the great arteries	54768	HYDIN	ORPHA:244
HP:0001669	Transposition of the great arteries	352909	DNAAF3	ORPHA:244
HP:0001669	Transposition of the great arteries	27148	STK36	ORPHA:244
HP:0001669	Transposition of the great arteries	51314	NME8	ORPHA:244
HP:0001669	Transposition of the great arteries	92749	DRC1	ORPHA:244
HP:0001669	Transposition of the great arteries	54970	TTC12	ORPHA:244
HP:0001669	Transposition of the great arteries	152110	NEK10	ORPHA:244
HP:0001669	Transposition of the great arteries	8481	OFD1	ORPHA:244
HP:0001669	Transposition of the great arteries	2302	FOXJ1	ORPHA:244
HP:0001669	Transposition of the great arteries	221421	RSPH9	ORPHA:244
HP:0001669	Transposition of the great arteries	85478	CCDC65	ORPHA:244
HP:0001669	Transposition of the great arteries	55036	CCDC40	ORPHA:244
HP:0001669	Transposition of the great arteries	51364	ZMYND10	ORPHA:244
HP:0001669	Transposition of the great arteries	64446	DNAI2	ORPHA:244
HP:0001669	Transposition of the great arteries	6674	SPAG1	ORPHA:244
HP:0001669	Transposition of the great arteries	83544	DNAL1	ORPHA:244
HP:0001669	Transposition of the great arteries	89765	RSPH1	ORPHA:244
HP:0001669	Transposition of the great arteries	83538	ODAD4	ORPHA:244
HP:0001669	Transposition of the great arteries	200373	CFAP221	ORPHA:244
HP:0001669	Transposition of the great arteries	374407	DNAJB13	ORPHA:244
HP:0001669	Transposition of the great arteries	55172	DNAAF2	ORPHA:244
HP:0001669	Transposition of the great arteries	161582	DNAAF4	ORPHA:244
HP:0001669	Transposition of the great arteries	2622	GAS8	ORPHA:244
HP:0001669	Transposition of the great arteries	23639	DNAAF11	ORPHA:244
HP:0001669	Transposition of the great arteries	27019	DNAI1	ORPHA:244
HP:0001669	Transposition of the great arteries	345895	RSPH4A	ORPHA:244
HP:0001669	Transposition of the great arteries	54919	DNAAF5	ORPHA:244
HP:0001669	Transposition of the great arteries	6103	RPGR	ORPHA:244
HP:0001669	Transposition of the great arteries	388389	CCDC103	ORPHA:244
HP:0001669	Transposition of the great arteries	93233	ODAD1	ORPHA:244
HP:0001669	Transposition of the great arteries	55130	ODAD2	ORPHA:244
HP:0001669	Transposition of the great arteries	1767	DNAH5	ORPHA:244
HP:0001669	Transposition of the great arteries	83861	RSPH3	ORPHA:244
HP:0001669	Transposition of the great arteries	345643	MCIDAS	ORPHA:244
HP:0001669	Transposition of the great arteries	56683	CFAP298	ORPHA:244
HP:0001669	Transposition of the great arteries	79925	SPEF2	ORPHA:244
HP:0001669	Transposition of the great arteries	10309	CCNO	ORPHA:244
HP:0001669	Transposition of the great arteries	115399	LRRC56	ORPHA:244
HP:0001669	Transposition of the great arteries	139212	DNAAF6	ORPHA:244
HP:0001669	Transposition of the great arteries	123872	DNAAF1	ORPHA:244
HP:0001669	Transposition of the great arteries	85016	CFAP300	ORPHA:244
HP:0001669	Transposition of the great arteries	339829	CCDC39	ORPHA:244
HP:0001669	Transposition of the great arteries	8701	DNAH11	ORPHA:244
HP:0001669	Transposition of the great arteries	1770	DNAH9	ORPHA:244
HP:0001669	Transposition of the great arteries	246176	GAS2L2	ORPHA:244
HP:0001669	Transposition of the great arteries	2187	FANCB	OMIM:314390
HP:0001669	Transposition of the great arteries	51715	RAB23	OMIM:201000
HP:0001669	Transposition of the great arteries	54870	QRICH1	OMIM:617982
HP:0001669	Transposition of the great arteries	2702	GJA5	OMIM:612474
HP:0001669	Transposition of the great arteries	2703	GJA8	OMIM:612474
HP:0001669	Transposition of the great arteries	1954	MEGF8	OMIM:614976
HP:0001669	Transposition of the great arteries	220136	CFAP53	OMIM:614779
HP:0001669	Transposition of the great arteries	2783	GNB2	OMIM:619503
HP:0001669	Transposition of the great arteries	2719	GPC3	OMIM:312870
HP:0001669	Transposition of the great arteries	2239	GPC4	OMIM:312870
HP:0001669	Transposition of the great arteries	55997	CFC1	OMIM:605376
HP:0001669	Transposition of the great arteries	1482	NKX2-5	OMIM:217095
HP:0001669	Transposition of the great arteries	26227	PHGDH	OMIM:256520
HP:0001669	Transposition of the great arteries	4087	SMAD2	OMIM:619657
HP:0001669	Transposition of the great arteries	100128908	CIROP	OMIM:619702
HP:0001669	Transposition of the great arteries	56006	SMG9	OMIM:619995
HP:0001669	Transposition of the great arteries	4838	NODAL	OMIM:270100
HP:0001669	Transposition of the great arteries	58499	ZNF462	OMIM:618619
HP:0008826	Dislocation of the femoral head	55699	IARS2	OMIM:616007
HP:0008826	Dislocation of the femoral head	1836	SLC26A2	ORPHA:93307
HP:0008826	Dislocation of the femoral head	6913	TBX15	OMIM:260660
HP:0008826	Dislocation of the femoral head	9759	HDAC4	OMIM:619797
HP:0008828	Delayed proximal femoral epiphyseal ossification	5626	PROP1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	89884	LHX4	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	8022	LHX3	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	5449	POU1F1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	8820	HESX1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	405753	DUOXA2	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	6528	SLC5A5	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	7038	TG	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	7173	TPO	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	389434	IYD	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	50506	DUOX2	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	100151683	RNU4ATAC	ORPHA:353298
HP:0008828	Delayed proximal femoral epiphyseal ossification	1280	COL2A1	ORPHA:93296
HP:0008828	Delayed proximal femoral epiphyseal ossification	4148	MATN3	ORPHA:93311
HP:0008828	Delayed proximal femoral epiphyseal ossification	7253	TSHR	ORPHA:90673
HP:0008828	Delayed proximal femoral epiphyseal ossification	7252	TSHB	ORPHA:90674
HP:0008828	Delayed proximal femoral epiphyseal ossification	126792	B3GALT6	OMIM:271640
HP:0008829	Delayed femoral head ossification	1836	SLC26A2	ORPHA:93307
HP:0008829	Delayed femoral head ossification	54808	DYM	OMIM:607326
HP:0011883	Abnormal platelet granules	10559	SLC35A1	ORPHA:238459
HP:0011883	Abnormal platelet granules	79803	HPS6	OMIM:614075
HP:0011883	Abnormal platelet granules	1130	LYST	OMIM:214500
HP:0011883	Abnormal platelet granules	8328	GFI1B	OMIM:187900
HP:0011883	Abnormal platelet granules	23218	NBEAL2	OMIM:139090
HP:0011883	Abnormal platelet granules	861	RUNX1	OMIM:601399
HP:0011883	Abnormal platelet granules	84343	HPS3	OMIM:614072
HP:0011883	Abnormal platelet granules	89781	HPS4	OMIM:614073
HP:0011883	Abnormal platelet granules	11234	HPS5	OMIM:614074
HP:0011883	Abnormal platelet granules	8546	AP3B1	OMIM:608233
HP:0011883	Abnormal platelet granules	63915	BLOC1S5	OMIM:619172
HP:0011883	Abnormal platelet granules	64376	IKZF5	OMIM:619130
HP:0011883	Abnormal platelet granules	2623	GATA1	OMIM:314050
HP:0011887	Choroid hemorrhage	5903	RANBP2	ORPHA:88619
HP:0011888	Bleeding requiring red cell transfusion	200931	SLC51A	OMIM:619484
HP:0011889	Bleeding with minor or no trauma	2157	F8	ORPHA:169805
HP:0011889	Bleeding with minor or no trauma	3848	KRT1	ORPHA:79503
HP:0011889	Bleeding with minor or no trauma	2165	F13B	ORPHA:331
HP:0011889	Bleeding with minor or no trauma	2162	F13A1	ORPHA:331
HP:0011889	Bleeding with minor or no trauma	2542	SLC37A4	OMIM:619525
HP:0011889	Bleeding with minor or no trauma	3998	LMAN1	ORPHA:35909
HP:0011889	Bleeding with minor or no trauma	90411	MCFD2	ORPHA:35909
HP:0011884	Abnormal umbilical stump bleeding	5345	SERPINF2	ORPHA:79
HP:0011884	Abnormal umbilical stump bleeding	2165	F13B	ORPHA:331
HP:0011884	Abnormal umbilical stump bleeding	2165	F13B	OMIM:613235
HP:0011884	Abnormal umbilical stump bleeding	2162	F13A1	ORPHA:331
HP:0011884	Abnormal umbilical stump bleeding	2162	F13A1	OMIM:613225
HP:0011884	Abnormal umbilical stump bleeding	2243	FGA	OMIM:202400
HP:0011884	Abnormal umbilical stump bleeding	2244	FGB	OMIM:202400
HP:0011884	Abnormal umbilical stump bleeding	2266	FGG	OMIM:202400
HP:0011884	Abnormal umbilical stump bleeding	2159	F10	ORPHA:328
HP:0011884	Abnormal umbilical stump bleeding	2147	F2	ORPHA:325
HP:0011885	Hemorrhage of the eye	2639	GCDH	ORPHA:25
HP:0011885	Hemorrhage of the eye	3458	IFNG	ORPHA:88
HP:0011885	Hemorrhage of the eye	5551	PRF1	ORPHA:88
HP:0011885	Hemorrhage of the eye	7012	TERC	ORPHA:88
HP:0011885	Hemorrhage of the eye	51119	SBDS	ORPHA:88
HP:0011885	Hemorrhage of the eye	7015	TERT	ORPHA:88
HP:0011885	Hemorrhage of the eye	11277	TREX1	OMIM:192315
HP:0011885	Hemorrhage of the eye	5167	ENPP1	ORPHA:51608
HP:0011885	Hemorrhage of the eye	5167	ENPP1	ORPHA:758
HP:0011885	Hemorrhage of the eye	368	ABCC6	ORPHA:51608
HP:0011885	Hemorrhage of the eye	368	ABCC6	OMIM:177850
HP:0011885	Hemorrhage of the eye	368	ABCC6	OMIM:264800
HP:0011885	Hemorrhage of the eye	368	ABCC6	ORPHA:758
HP:0011885	Hemorrhage of the eye	1161	ERCC8	ORPHA:90324
HP:0011885	Hemorrhage of the eye	2074	ERCC6	ORPHA:90324
HP:0011885	Hemorrhage of the eye	1282	COL4A1	OMIM:611773
HP:0011885	Hemorrhage of the eye	1282	COL4A1	OMIM:175780
HP:0011885	Hemorrhage of the eye	1282	COL4A1	OMIM:180000
HP:0011885	Hemorrhage of the eye	3913	LAMB2	OMIM:609049
HP:0011885	Hemorrhage of the eye	8517	IKBKG	ORPHA:464
HP:0011885	Hemorrhage of the eye	8517	IKBKG	OMIM:308300
HP:0011885	Hemorrhage of the eye	4615	MYD88	ORPHA:33226
HP:0011885	Hemorrhage of the eye	64131	XYLT1	OMIM:264800
HP:0011885	Hemorrhage of the eye	64132	XYLT2	OMIM:264800
HP:0011885	Hemorrhage of the eye	1785	DNM2	OMIM:615368
HP:0011885	Hemorrhage of the eye	667	DST	OMIM:614653
HP:0011885	Hemorrhage of the eye	8322	FZD4	OMIM:133780
HP:0011885	Hemorrhage of the eye	8322	FZD4	ORPHA:891
HP:0011885	Hemorrhage of the eye	8322	FZD4	ORPHA:90050
HP:0011885	Hemorrhage of the eye	4041	LRP5	OMIM:133780
HP:0011885	Hemorrhage of the eye	4041	LRP5	ORPHA:891
HP:0011885	Hemorrhage of the eye	4041	LRP5	ORPHA:90050
HP:0011885	Hemorrhage of the eye	4041	LRP5	OMIM:601813
HP:0011885	Hemorrhage of the eye	4693	NDP	ORPHA:891
HP:0011885	Hemorrhage of the eye	4693	NDP	ORPHA:90050
HP:0011885	Hemorrhage of the eye	1499	CTNNB1	ORPHA:891
HP:0011885	Hemorrhage of the eye	23554	TSPAN12	ORPHA:891
HP:0011885	Hemorrhage of the eye	79797	ZNF408	ORPHA:891
HP:0011885	Hemorrhage of the eye	726	CAPN5	OMIM:193235
HP:0011885	Hemorrhage of the eye	7439	BEST1	OMIM:193220
HP:0011885	Hemorrhage of the eye	5624	PROC	OMIM:612304
HP:0011885	Hemorrhage of the eye	6247	RS1	OMIM:312700
HP:0011885	Hemorrhage of the eye	5925	RB1	OMIM:180200
HP:0011885	Hemorrhage of the eye	8314	BAP1	ORPHA:39044
HP:0011885	Hemorrhage of the eye	57105	CYSLTR2	ORPHA:39044
HP:0011885	Hemorrhage of the eye	2776	GNAQ	ORPHA:39044
HP:0011885	Hemorrhage of the eye	2767	GNA11	ORPHA:39044
HP:0011885	Hemorrhage of the eye	23451	SF3B1	ORPHA:39044
HP:0011885	Hemorrhage of the eye	23137	SMC5	OMIM:620185
HP:0011885	Hemorrhage of the eye	220202	ATOH7	ORPHA:91495
HP:0011885	Hemorrhage of the eye	9839	ZEB2	ORPHA:261552
HP:0011885	Hemorrhage of the eye	5903	RANBP2	ORPHA:88619
HP:0011885	Hemorrhage of the eye	10095	ARPC1B	OMIM:617718
HP:0011885	Hemorrhage of the eye	23545	ATP6V0A2	ORPHA:357074
HP:0011885	Hemorrhage of the eye	523	ATP6V1A	ORPHA:357074
HP:0011885	Hemorrhage of the eye	529	ATP6V1E1	ORPHA:357074
HP:0011885	Hemorrhage of the eye	2202	EFEMP1	ORPHA:75376
HP:0011885	Hemorrhage of the eye	3075	CFH	ORPHA:75376
HP:0011885	Hemorrhage of the eye	3426	CFI	ORPHA:75376
HP:0011885	Hemorrhage of the eye	348	APOE	OMIM:603075
HP:0011885	Hemorrhage of the eye	83872	HMCN1	OMIM:603075
HP:0011885	Hemorrhage of the eye	3078	CFHR1	OMIM:603075
HP:0011885	Hemorrhage of the eye	10878	CFHR3	OMIM:603075
HP:0011886	Hyphema	220202	ATOH7	OMIM:221900
HP:0011886	Hyphema	9839	ZEB2	ORPHA:261552
HP:0008830	Hypoplastic pubic ramus	23522	KAT6B	OMIM:606170
HP:0008830	Hypoplastic pubic ramus	10815	CPLX1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	54872	PIGG	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	7469	NELFA	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	1487	CTBP1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	3954	LETM1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	7468	NSD2	ORPHA:280
HP:0003180	Flat acetabular roof	1311	COMP	ORPHA:750
HP:0003180	Flat acetabular roof	54808	DYM	OMIM:223800
HP:0003180	Flat acetabular roof	1280	COL2A1	OMIM:271700
HP:0003180	Flat acetabular roof	1280	COL2A1	OMIM:151210
HP:0003180	Flat acetabular roof	1280	COL2A1	ORPHA:94068
HP:0003180	Flat acetabular roof	59341	TRPV4	OMIM:184252
HP:0003180	Flat acetabular roof	59341	TRPV4	ORPHA:93314
HP:0003180	Flat acetabular roof	59341	TRPV4	OMIM:156530
HP:0003180	Flat acetabular roof	1836	SLC26A2	OMIM:256050
HP:0003180	Flat acetabular roof	153241	CEP120	OMIM:616300
HP:0003180	Flat acetabular roof	1108	CHD4	OMIM:617159
HP:0003180	Flat acetabular roof	54187	NANS	OMIM:610442
HP:0003180	Flat acetabular roof	64131	XYLT1	OMIM:615777
HP:0003180	Flat acetabular roof	124583	CANT1	OMIM:617719
HP:0003180	Flat acetabular roof	124583	CANT1	OMIM:251450
HP:0003180	Flat acetabular roof	2317	FLNB	OMIM:108721
HP:0003180	Flat acetabular roof	9896	FIG4	OMIM:216340
HP:0003180	Flat acetabular roof	4148	MATN3	OMIM:608728
HP:0003180	Flat acetabular roof	5745	PTH1R	OMIM:600002
HP:0003180	Flat acetabular roof	2261	FGFR3	ORPHA:15
HP:0003180	Flat acetabular roof	57539	WDR35	OMIM:614091
HP:0003180	Flat acetabular roof	3636	INPPL1	OMIM:258480
HP:0003180	Flat acetabular roof	633	BGN	OMIM:300106
HP:0003180	Flat acetabular roof	26175	LYSET	OMIM:619345
HP:0003180	Flat acetabular roof	9321	TRIP11	OMIM:184260
HP:0003180	Flat acetabular roof	83452	RAB33B	OMIM:615222
HP:0003180	Flat acetabular roof	51098	IFT52	OMIM:617102
HP:0003180	Flat acetabular roof	55790	CSGALNACT1	OMIM:618870
HP:0003180	Flat acetabular roof	51025	PAM16	OMIM:613320
HP:0003180	Flat acetabular roof	23169	SLC35D1	OMIM:269250
HP:0003180	Flat acetabular roof	79158	GNPTAB	OMIM:252500
HP:0003180	Flat acetabular roof	9382	COG1	ORPHA:263508
HP:0003180	Flat acetabular roof	2879	GPX4	OMIM:250220
HP:0008833	Irregular acetabular roof	1311	COMP	ORPHA:750
HP:0008833	Irregular acetabular roof	8838	CCN6	ORPHA:1159
HP:0008833	Irregular acetabular roof	55325	UFSP2	OMIM:617974
HP:0008833	Irregular acetabular roof	1280	COL2A1	ORPHA:93316
HP:0008833	Irregular acetabular roof	59341	TRPV4	OMIM:184252
HP:0008833	Irregular acetabular roof	1300	COL10A1	OMIM:156500
HP:0008833	Irregular acetabular roof	153642	ARSK	OMIM:619698
HP:0001670	Asymmetric septal hypertrophy	4633	MYL2	OMIM:608758
HP:0001670	Asymmetric septal hypertrophy	54800	KLHL24	OMIM:620236
HP:0001670	Asymmetric septal hypertrophy	6448	SGSH	OMIM:252900
HP:0001670	Asymmetric septal hypertrophy	138050	HGSNAT	OMIM:252930
HP:0001670	Asymmetric septal hypertrophy	4669	NAGLU	OMIM:252920
HP:0001670	Asymmetric septal hypertrophy	4624	MYH6	OMIM:192600
HP:0001670	Asymmetric septal hypertrophy	4625	MYH7	OMIM:192600
HP:0001670	Asymmetric septal hypertrophy	859	CAV3	OMIM:192600
HP:0001670	Asymmetric septal hypertrophy	85366	MYLK2	OMIM:192600
HP:0001670	Asymmetric septal hypertrophy	2799	GNS	OMIM:252940
HP:0001670	Asymmetric septal hypertrophy	80206	FHOD3	OMIM:619402
HP:0001670	Asymmetric septal hypertrophy	51778	MYOZ2	OMIM:613838
HP:0001670	Asymmetric septal hypertrophy	51422	PRKAG2	OMIM:600858
HP:0001671	Abnormal cardiac septum morphology	8036	SHOC2	OMIM:607721
HP:0001671	Abnormal cardiac septum morphology	10617	STAMBP	OMIM:614261
HP:0001671	Abnormal cardiac septum morphology	6910	TBX5	ORPHA:392
HP:0001671	Abnormal cardiac septum morphology	6910	TBX5	OMIM:142900
HP:0001671	Abnormal cardiac septum morphology	28981	IFT81	OMIM:617895
HP:0001671	Abnormal cardiac septum morphology	8216	LZTR1	OMIM:616564
HP:0001671	Abnormal cardiac septum morphology	8216	LZTR1	OMIM:605275
HP:0001671	Abnormal cardiac septum morphology	776	CACNA1D	OMIM:615474
HP:0001671	Abnormal cardiac septum morphology	776	CACNA1D	ORPHA:369929
HP:0001671	Abnormal cardiac septum morphology	91754	NEK9	OMIM:614262
HP:0001671	Abnormal cardiac septum morphology	91754	NEK9	OMIM:617022
HP:0001671	Abnormal cardiac septum morphology	4750	NEK1	OMIM:263520
HP:0001671	Abnormal cardiac septum morphology	2132	EXT2	OMIM:616682
HP:0001671	Abnormal cardiac septum morphology	1024	CDK8	OMIM:618748
HP:0001671	Abnormal cardiac septum morphology	6659	SOX4	OMIM:618506
HP:0001671	Abnormal cardiac septum morphology	6659	SOX4	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6016	RIT1	OMIM:615355
HP:0001671	Abnormal cardiac septum morphology	51126	NAA20	OMIM:619717
HP:0001671	Abnormal cardiac septum morphology	2972	BRF1	OMIM:616202
HP:0001671	Abnormal cardiac septum morphology	2972	BRF1	ORPHA:444072
HP:0001671	Abnormal cardiac septum morphology	81857	MED25	OMIM:616449
HP:0001671	Abnormal cardiac septum morphology	81857	MED25	ORPHA:464738
HP:0001671	Abnormal cardiac septum morphology	22800	RRAS2	OMIM:618624
HP:0001671	Abnormal cardiac septum morphology	91801	ALKBH8	OMIM:618504
HP:0001671	Abnormal cardiac septum morphology	1131	CHRM3	ORPHA:2970
HP:0001671	Abnormal cardiac septum morphology	64220	STRA6	OMIM:601186
HP:0001671	Abnormal cardiac septum morphology	55209	SETD5	ORPHA:404440
HP:0001671	Abnormal cardiac septum morphology	3190	HNRNPK	ORPHA:453504
HP:0001671	Abnormal cardiac septum morphology	3190	HNRNPK	ORPHA:352665
HP:0001671	Abnormal cardiac septum morphology	10743	RAI1	ORPHA:477817
HP:0001671	Abnormal cardiac septum morphology	55790	CSGALNACT1	OMIM:618870
HP:0001671	Abnormal cardiac septum morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	79639	TMEM53	OMIM:619727
HP:0001671	Abnormal cardiac septum morphology	2201	FBN2	OMIM:121050
HP:0001671	Abnormal cardiac septum morphology	23384	SPECC1L	ORPHA:1519
HP:0001671	Abnormal cardiac septum morphology	23384	SPECC1L	OMIM:145420
HP:0001671	Abnormal cardiac septum morphology	7086	TKT	ORPHA:488618
HP:0001671	Abnormal cardiac septum morphology	7086	TKT	OMIM:617044
HP:0001671	Abnormal cardiac septum morphology	5189	PEX1	OMIM:214100
HP:0001671	Abnormal cardiac septum morphology	5189	PEX1	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	ORPHA:363958
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	OMIM:610443
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	ORPHA:363965
HP:0001671	Abnormal cardiac septum morphology	9469	CHST3	OMIM:143095
HP:0001671	Abnormal cardiac septum morphology	7021	TFAP2B	ORPHA:46627
HP:0001671	Abnormal cardiac septum morphology	54567	DLL4	OMIM:616589
HP:0001671	Abnormal cardiac septum morphology	815	CAMK2A	OMIM:617798
HP:0001671	Abnormal cardiac septum morphology	4853	NOTCH2	OMIM:102500
HP:0001671	Abnormal cardiac septum morphology	4853	NOTCH2	ORPHA:955
HP:0001671	Abnormal cardiac septum morphology	7994	KAT6A	ORPHA:457193
HP:0001671	Abnormal cardiac septum morphology	7994	KAT6A	OMIM:616268
HP:0001671	Abnormal cardiac septum morphology	64359	NXN	ORPHA:1507
HP:0001671	Abnormal cardiac septum morphology	4920	ROR2	ORPHA:1507
HP:0001671	Abnormal cardiac septum morphology	4920	ROR2	OMIM:113000
HP:0001671	Abnormal cardiac septum morphology	2697	GJA1	ORPHA:2710
HP:0001671	Abnormal cardiac septum morphology	4313	MMP2	ORPHA:371428
HP:0001671	Abnormal cardiac septum morphology	4323	MMP14	ORPHA:371428
HP:0001671	Abnormal cardiac septum morphology	5567	PRKACB	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	2735	GLI1	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	2121	EVC	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	51626	DYNC2LI1	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	132884	EVC2	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	6926	TBX3	OMIM:181450
HP:0001671	Abnormal cardiac septum morphology	6926	TBX3	ORPHA:3138
HP:0001671	Abnormal cardiac septum morphology	4763	NF1	ORPHA:363700
HP:0001671	Abnormal cardiac septum morphology	22884	WDR37	OMIM:618652
HP:0001671	Abnormal cardiac septum morphology	7386	UQCRFS1	OMIM:618775
HP:0001671	Abnormal cardiac septum morphology	23327	NEDD4L	OMIM:617201
HP:0001671	Abnormal cardiac septum morphology	93627	TBCK	ORPHA:488632
HP:0001671	Abnormal cardiac septum morphology	2783	GNB2	OMIM:619503
HP:0001671	Abnormal cardiac septum morphology	64132	XYLT2	ORPHA:85194
HP:0001671	Abnormal cardiac septum morphology	4247	MGAT2	OMIM:212066
HP:0001671	Abnormal cardiac septum morphology	4247	MGAT2	ORPHA:79329
HP:0001671	Abnormal cardiac septum morphology	81794	ADAMTS10	OMIM:277600
HP:0001671	Abnormal cardiac septum morphology	81794	ADAMTS10	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	3476	IGBP1	ORPHA:52055
HP:0001671	Abnormal cardiac septum morphology	3476	IGBP1	OMIM:300472
HP:0001671	Abnormal cardiac septum morphology	5337	PLD1	OMIM:212093
HP:0001671	Abnormal cardiac septum morphology	8493	PPM1D	OMIM:617450
HP:0001671	Abnormal cardiac septum morphology	56006	SMG9	OMIM:619995
HP:0001671	Abnormal cardiac septum morphology	56006	SMG9	OMIM:616920
HP:0001671	Abnormal cardiac septum morphology	54914	FOCAD	OMIM:619991
HP:0001671	Abnormal cardiac septum morphology	51633	OTUD6B	OMIM:617452
HP:0001671	Abnormal cardiac septum morphology	51633	OTUD6B	ORPHA:505237
HP:0001671	Abnormal cardiac septum morphology	27125	AFF4	OMIM:616368
HP:0001671	Abnormal cardiac septum morphology	27125	AFF4	ORPHA:444077
HP:0001671	Abnormal cardiac septum morphology	5604	MAP2K1	OMIM:615279
HP:0001671	Abnormal cardiac septum morphology	5604	MAP2K1	OMIM:163950
HP:0001671	Abnormal cardiac septum morphology	150468	CKAP2L	OMIM:272440
HP:0001671	Abnormal cardiac septum morphology	150468	CKAP2L	ORPHA:3255
HP:0001671	Abnormal cardiac septum morphology	6134	RPL10	ORPHA:459070
HP:0001671	Abnormal cardiac septum morphology	6134	RPL10	OMIM:300998
HP:0001671	Abnormal cardiac septum morphology	415	ARSL	ORPHA:79345
HP:0001671	Abnormal cardiac septum morphology	1859	DYRK1A	ORPHA:464311
HP:0001671	Abnormal cardiac septum morphology	1859	DYRK1A	ORPHA:268261
HP:0001671	Abnormal cardiac septum morphology	8314	BAP1	OMIM:619762
HP:0001671	Abnormal cardiac septum morphology	7750	ZMYM2	OMIM:619522
HP:0001671	Abnormal cardiac septum morphology	9158	FIBP	OMIM:617107
HP:0001671	Abnormal cardiac septum morphology	9158	FIBP	ORPHA:500095
HP:0001671	Abnormal cardiac septum morphology	200424	TET3	OMIM:618798
HP:0001671	Abnormal cardiac septum morphology	2542	SLC37A4	OMIM:619525
HP:0001671	Abnormal cardiac septum morphology	9772	TMEM94	OMIM:618316
HP:0001671	Abnormal cardiac septum morphology	9993	DGCR2	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	8220	ESS2	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	8214	DGCR6	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	54487	DGCR8	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	51341	ZBTB7A	OMIM:619769
HP:0001671	Abnormal cardiac septum morphology	9968	MED12	OMIM:301068
HP:0001671	Abnormal cardiac septum morphology	9968	MED12	OMIM:309520
HP:0001671	Abnormal cardiac septum morphology	4621	MYH3	OMIM:178110
HP:0001671	Abnormal cardiac septum morphology	775	CACNA1C	OMIM:601005
HP:0001671	Abnormal cardiac septum morphology	2239	GPC4	ORPHA:373
HP:0001671	Abnormal cardiac septum morphology	2239	GPC4	OMIM:312870
HP:0001671	Abnormal cardiac septum morphology	2719	GPC3	ORPHA:373
HP:0001671	Abnormal cardiac septum morphology	2719	GPC3	OMIM:312870
HP:0001671	Abnormal cardiac septum morphology	23007	PLCH1	OMIM:619895
HP:0001671	Abnormal cardiac septum morphology	23483	TGDS	OMIM:616145
HP:0001671	Abnormal cardiac septum morphology	23483	TGDS	ORPHA:1388
HP:0001671	Abnormal cardiac septum morphology	285203	EOGT	OMIM:615297
HP:0001671	Abnormal cardiac septum morphology	8565	YARS1	OMIM:619418
HP:0001671	Abnormal cardiac septum morphology	54916	TMEM260	OMIM:617478
HP:0001671	Abnormal cardiac septum morphology	25836	NIPBL	OMIM:122470
HP:0001671	Abnormal cardiac septum morphology	25836	NIPBL	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	23499	MACF1	OMIM:618325
HP:0001671	Abnormal cardiac septum morphology	3930	LBR	OMIM:169400
HP:0001671	Abnormal cardiac septum morphology	404672	GTF2H5	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	833	CARS1	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2068	ERCC2	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	7737	RNF113A	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	136647	MPLKIP	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	136647	MPLKIP	OMIM:234050
HP:0001671	Abnormal cardiac septum morphology	6897	TARS1	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2071	ERCC3	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2961	GTF2E2	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	54361	WNT4	OMIM:611812
HP:0001671	Abnormal cardiac septum morphology	54361	WNT4	ORPHA:139466
HP:0001671	Abnormal cardiac septum morphology	286204	CRB2	OMIM:219730
HP:0001671	Abnormal cardiac septum morphology	9896	FIG4	OMIM:216340
HP:0001671	Abnormal cardiac septum morphology	9896	FIG4	ORPHA:3472
HP:0001671	Abnormal cardiac septum morphology	6135	RPL11	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6135	RPL11	OMIM:612562
HP:0001671	Abnormal cardiac septum morphology	6138	RPL15	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6138	RPL15	OMIM:615550
HP:0001671	Abnormal cardiac septum morphology	6229	RPS24	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6125	RPL5	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6125	RPL5	OMIM:612561
HP:0001671	Abnormal cardiac septum morphology	6204	RPS10	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6224	RPS20	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6165	RPL35A	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6165	RPL35A	OMIM:612528
HP:0001671	Abnormal cardiac septum morphology	6223	RPS19	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6223	RPS19	OMIM:105650
HP:0001671	Abnormal cardiac septum morphology	6232	RPS27	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6231	RPS26	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6231	RPS26	OMIM:613309
HP:0001671	Abnormal cardiac septum morphology	11224	RPL35	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6160	RPL31	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6218	RPS17	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6201	RPS7	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6155	RPL27	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6154	RPL26	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6210	RPS15A	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	90121	TSR2	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6141	RPL18	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6235	RPS29	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6234	RPS28	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	51816	ADA2	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6261	RYR1	OMIM:619542
HP:0001671	Abnormal cardiac septum morphology	8295	TRRAP	OMIM:618454
HP:0001671	Abnormal cardiac septum morphology	8621	CDK13	OMIM:617360
HP:0001671	Abnormal cardiac septum morphology	93233	ODAD1	OMIM:615067
HP:0001671	Abnormal cardiac septum morphology	1892	ECHS1	OMIM:616277
HP:0001671	Abnormal cardiac septum morphology	1892	ECHS1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	51117	COQ4	OMIM:616276
HP:0001671	Abnormal cardiac septum morphology	1523	CUX1	OMIM:618330
HP:0001671	Abnormal cardiac septum morphology	4212	MEIS2	ORPHA:261190
HP:0001671	Abnormal cardiac septum morphology	4212	MEIS2	OMIM:600987
HP:0001671	Abnormal cardiac septum morphology	115948	ODAD3	OMIM:616037
HP:0001671	Abnormal cardiac septum morphology	55770	EXOC2	OMIM:619306
HP:0001671	Abnormal cardiac septum morphology	6654	SOS1	OMIM:610733
HP:0001671	Abnormal cardiac septum morphology	6792	CDKL5	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	3736	KCNA1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	9091	PIGQ	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2775	GNAO1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	81603	TRIM8	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2902	GRIN1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	79751	SLC25A22	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	150094	SIK1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	8573	CASK	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	23312	DMXL2	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2917	GRM7	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	170302	ARX	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	170302	ARX	ORPHA:452
HP:0001671	Abnormal cardiac septum morphology	11284	PNKP	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	6326	SCN2A	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	51227	PIGP	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	6324	SCN1B	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	4761	NEUROD2	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2263	FGFR2	OMIM:101200
HP:0001671	Abnormal cardiac septum morphology	2737	GLI3	ORPHA:672
HP:0001671	Abnormal cardiac septum morphology	2737	GLI3	OMIM:146510
HP:0001671	Abnormal cardiac septum morphology	9361	LONP1	OMIM:600373
HP:0001671	Abnormal cardiac septum morphology	9361	LONP1	ORPHA:79243
HP:0001671	Abnormal cardiac septum morphology	9361	LONP1	ORPHA:1458
HP:0001671	Abnormal cardiac septum morphology	388015	RTL1	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	388015	RTL1	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	8788	DLK1	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	8788	DLK1	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	55384	MEG3	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	55384	MEG3	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	123606	NIPA1	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	7283	TUBG1	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	81614	NIPA2	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	23314	SATB2	ORPHA:251028
HP:0001671	Abnormal cardiac septum morphology	57122	NUP107	OMIM:618348
HP:0001671	Abnormal cardiac septum morphology	57122	NUP107	OMIM:616730
HP:0001671	Abnormal cardiac septum morphology	4838	NODAL	OMIM:270100
HP:0001671	Abnormal cardiac septum morphology	55315	SLC29A3	OMIM:602782
HP:0001671	Abnormal cardiac septum morphology	55315	SLC29A3	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	7490	WT1	ORPHA:3097
HP:0001671	Abnormal cardiac septum morphology	7490	WT1	OMIM:608978
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	ORPHA:353281
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	OMIM:180849
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	ORPHA:353277
HP:0001671	Abnormal cardiac septum morphology	23395	LARS2	OMIM:617021
HP:0001671	Abnormal cardiac septum morphology	6651	SON	OMIM:617140
HP:0001671	Abnormal cardiac septum morphology	2033	EP300	ORPHA:353284
HP:0001671	Abnormal cardiac septum morphology	2033	EP300	OMIM:180849
HP:0001671	Abnormal cardiac septum morphology	4041	LRP5	OMIM:259770
HP:0001671	Abnormal cardiac septum morphology	9126	SMC3	OMIM:610759
HP:0001671	Abnormal cardiac septum morphology	9126	SMC3	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	79068	FTO	OMIM:612938
HP:0001671	Abnormal cardiac septum morphology	8626	TP63	OMIM:106260
HP:0001671	Abnormal cardiac septum morphology	4784	NFIX	OMIM:602535
HP:0001671	Abnormal cardiac septum morphology	4784	NFIX	ORPHA:447980
HP:0001671	Abnormal cardiac septum morphology	57551	TAOK1	OMIM:619575
HP:0001671	Abnormal cardiac septum morphology	8260	NAA10	OMIM:300855
HP:0001671	Abnormal cardiac septum morphology	8260	NAA10	ORPHA:276432
HP:0001671	Abnormal cardiac septum morphology	10082	GPC6	OMIM:258315
HP:0001671	Abnormal cardiac septum morphology	1108	CHD4	OMIM:617159
HP:0001671	Abnormal cardiac septum morphology	23389	MED13L	ORPHA:369891
HP:0001671	Abnormal cardiac septum morphology	1312	COMT	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	221037	JMJD1C	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	2812	GP1BB	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	6239	RREB1	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	7290	HIRA	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	9632	SEC24C	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	7353	UFD1	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	421	ARVCF	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	3265	HRAS	ORPHA:3071
HP:0001671	Abnormal cardiac septum morphology	3265	HRAS	OMIM:218040
HP:0001671	Abnormal cardiac septum morphology	26276	VPS33B	OMIM:208085
HP:0001671	Abnormal cardiac septum morphology	10524	KAT5	OMIM:619103
HP:0001671	Abnormal cardiac septum morphology	372	ARCN1	OMIM:617164
HP:0001671	Abnormal cardiac septum morphology	1822	ATN1	OMIM:618494
HP:0001671	Abnormal cardiac septum morphology	4613	MYCN	OMIM:164280
HP:0001671	Abnormal cardiac septum morphology	6304	SATB1	OMIM:619229
HP:0001671	Abnormal cardiac septum morphology	4990	SIX6	OMIM:206900
HP:0001671	Abnormal cardiac septum morphology	6657	SOX2	OMIM:206900
HP:0001671	Abnormal cardiac septum morphology	6657	SOX2	ORPHA:77298
HP:0001671	Abnormal cardiac septum morphology	8883	NAE1	OMIM:620210
HP:0001671	Abnormal cardiac septum morphology	9343	EFTUD2	OMIM:610536
HP:0001671	Abnormal cardiac septum morphology	57003	CCDC47	OMIM:618268
HP:0001671	Abnormal cardiac septum morphology	5977	DPF2	OMIM:618027
HP:0001671	Abnormal cardiac septum morphology	5977	DPF2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	57061	HYMAI	ORPHA:96191
HP:0001671	Abnormal cardiac septum morphology	5325	PLAGL1	ORPHA:96191
HP:0001671	Abnormal cardiac septum morphology	10526	IPO8	OMIM:619472
HP:0001671	Abnormal cardiac septum morphology	348180	CTU2	OMIM:618142
HP:0001671	Abnormal cardiac septum morphology	340419	RSPO2	OMIM:618021
HP:0001671	Abnormal cardiac septum morphology	6711	SPTBN1	OMIM:619475
HP:0001671	Abnormal cardiac septum morphology	26005	C2CD3	ORPHA:434179
HP:0001671	Abnormal cardiac septum morphology	26005	C2CD3	OMIM:615948
HP:0001671	Abnormal cardiac septum morphology	57514	ARHGAP31	OMIM:100300
HP:0001671	Abnormal cardiac septum morphology	10283	CWC27	OMIM:250410
HP:0001671	Abnormal cardiac septum morphology	10283	CWC27	ORPHA:166035
HP:0001671	Abnormal cardiac septum morphology	5290	PIK3CA	OMIM:602501
HP:0001671	Abnormal cardiac septum morphology	285590	SH3PXD2B	OMIM:249420
HP:0001671	Abnormal cardiac septum morphology	374879	ZNF699	OMIM:619488
HP:0001671	Abnormal cardiac septum morphology	4841	NONO	OMIM:300967
HP:0001671	Abnormal cardiac septum morphology	4841	NONO	ORPHA:466791
HP:0001671	Abnormal cardiac septum morphology	51715	RAB23	OMIM:201000
HP:0001671	Abnormal cardiac septum morphology	29123	ANKRD11	ORPHA:261250
HP:0001671	Abnormal cardiac septum morphology	28952	CCDC22	OMIM:300963
HP:0001671	Abnormal cardiac septum morphology	28952	CCDC22	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	90416	CCDC32	OMIM:619123
HP:0001671	Abnormal cardiac septum morphology	118924	FRA10AC1	OMIM:620113
HP:0001671	Abnormal cardiac septum morphology	4222	MEOX1	OMIM:214300
HP:0001671	Abnormal cardiac septum morphology	4222	MEOX1	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	407975	MIR17HG	ORPHA:391646
HP:0001671	Abnormal cardiac septum morphology	126792	B3GALT6	OMIM:271640
HP:0001671	Abnormal cardiac septum morphology	745	MYRF	OMIM:618280
HP:0001671	Abnormal cardiac septum morphology	10084	PQBP1	OMIM:309500
HP:0001671	Abnormal cardiac septum morphology	4256	MGP	OMIM:245150
HP:0001671	Abnormal cardiac septum morphology	4256	MGP	ORPHA:85202
HP:0001671	Abnormal cardiac septum morphology	5528	PPP2R5D	ORPHA:457279
HP:0001671	Abnormal cardiac septum morphology	9487	PIGL	OMIM:280000
HP:0001671	Abnormal cardiac septum morphology	9487	PIGL	ORPHA:3474
HP:0001671	Abnormal cardiac septum morphology	5236	PGM1	OMIM:614921
HP:0001671	Abnormal cardiac septum morphology	5297	PI4KA	ORPHA:436252
HP:0001671	Abnormal cardiac septum morphology	57217	TTC7A	ORPHA:436252
HP:0001671	Abnormal cardiac septum morphology	57217	TTC7A	OMIM:243150
HP:0001671	Abnormal cardiac septum morphology	3643	INSR	ORPHA:769
HP:0001671	Abnormal cardiac septum morphology	23522	KAT6B	ORPHA:3047
HP:0001671	Abnormal cardiac septum morphology	23522	KAT6B	OMIM:606170
HP:0001671	Abnormal cardiac septum morphology	9897	WASHC5	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	9897	WASHC5	OMIM:220210
HP:0001671	Abnormal cardiac septum morphology	55181	SMG8	OMIM:619268
HP:0001671	Abnormal cardiac septum morphology	9652	SKIC3	ORPHA:84064
HP:0001671	Abnormal cardiac septum morphology	9652	SKIC3	OMIM:222470
HP:0001671	Abnormal cardiac septum morphology	6499	SKIC2	ORPHA:84064
HP:0001671	Abnormal cardiac septum morphology	26123	TCTN3	OMIM:614815
HP:0001671	Abnormal cardiac septum morphology	3480	IGF1R	OMIM:270450
HP:0001671	Abnormal cardiac septum morphology	2294	FOXF1	OMIM:265380
HP:0001671	Abnormal cardiac septum morphology	2294	FOXF1	ORPHA:210122
HP:0001671	Abnormal cardiac septum morphology	23129	PLXND1	ORPHA:3384
HP:0001671	Abnormal cardiac septum morphology	10262	SF3B4	OMIM:154400
HP:0001671	Abnormal cardiac septum morphology	23241	PACS2	OMIM:618067
HP:0001671	Abnormal cardiac septum morphology	26128	KIFBP	OMIM:609460
HP:0001671	Abnormal cardiac septum morphology	83700	JAM3	OMIM:613730
HP:0001671	Abnormal cardiac septum morphology	123263	MTFMT	OMIM:614947
HP:0001671	Abnormal cardiac septum morphology	123263	MTFMT	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	8854	ALDH1A2	OMIM:620025
HP:0001671	Abnormal cardiac septum morphology	10992	SF3B2	OMIM:164210
HP:0001671	Abnormal cardiac septum morphology	8496	PPFIBP1	OMIM:620024
HP:0001671	Abnormal cardiac septum morphology	9839	ZEB2	OMIM:235730
HP:0001671	Abnormal cardiac septum morphology	9839	ZEB2	ORPHA:261552
HP:0001671	Abnormal cardiac septum morphology	64324	NSD1	ORPHA:821
HP:0001671	Abnormal cardiac septum morphology	64324	NSD1	OMIM:117550
HP:0001671	Abnormal cardiac septum morphology	29072	SETD2	ORPHA:821
HP:0001671	Abnormal cardiac septum morphology	10297	APC2	ORPHA:821
HP:0001671	Abnormal cardiac septum morphology	4281	MID1	OMIM:300000
HP:0001671	Abnormal cardiac septum morphology	4281	MID1	ORPHA:2745
HP:0001671	Abnormal cardiac septum morphology	80232	WDR26	ORPHA:513456
HP:0001671	Abnormal cardiac septum morphology	80232	WDR26	OMIM:617616
HP:0001671	Abnormal cardiac septum morphology	613	BCR	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	1399	CRKL	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	5594	MAPK1	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	89910	UBE3B	OMIM:244450
HP:0001671	Abnormal cardiac septum morphology	55249	YY1AP1	ORPHA:79094
HP:0001671	Abnormal cardiac septum morphology	1717	DHCR7	ORPHA:818
HP:0001671	Abnormal cardiac septum morphology	1717	DHCR7	OMIM:270400
HP:0001671	Abnormal cardiac septum morphology	10225	CD96	OMIM:211750
HP:0001671	Abnormal cardiac septum morphology	57492	ARID1B	OMIM:135900
HP:0001671	Abnormal cardiac septum morphology	57492	ARID1B	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	5119	CHMP1A	OMIM:614961
HP:0001671	Abnormal cardiac septum morphology	1889	ECE1	OMIM:613870
HP:0001671	Abnormal cardiac septum morphology	1801	DPH1	OMIM:616901
HP:0001671	Abnormal cardiac septum morphology	8772	FADD	OMIM:613759
HP:0001671	Abnormal cardiac septum morphology	8772	FADD	ORPHA:306550
HP:0001671	Abnormal cardiac septum morphology	6597	SMARCA4	OMIM:614609
HP:0001671	Abnormal cardiac septum morphology	6597	SMARCA4	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	55697	VAC14	ORPHA:3472
HP:0001671	Abnormal cardiac septum morphology	6885	MAP3K7	OMIM:157800
HP:0001671	Abnormal cardiac septum morphology	55148	UBR7	OMIM:619189
HP:0001671	Abnormal cardiac septum morphology	63894	VIPAS39	OMIM:613404
HP:0001671	Abnormal cardiac septum morphology	4036	LRP2	ORPHA:2143
HP:0001671	Abnormal cardiac septum morphology	4036	LRP2	OMIM:222448
HP:0001671	Abnormal cardiac septum morphology	53834	FGFRL1	OMIM:194190
HP:0001671	Abnormal cardiac septum morphology	26227	PHGDH	OMIM:256520
HP:0001671	Abnormal cardiac septum morphology	23118	TAB2	OMIM:614980
HP:0001671	Abnormal cardiac septum morphology	4519	MT-CYB	ORPHA:137675
HP:0001671	Abnormal cardiac septum morphology	5828	PEX2	OMIM:614866
HP:0001671	Abnormal cardiac septum morphology	5828	PEX2	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	55719	SLF2	OMIM:620184
HP:0001671	Abnormal cardiac septum morphology	6558	SLC12A2	OMIM:619083
HP:0001671	Abnormal cardiac septum morphology	10236	HNRNPR	OMIM:620073
HP:0001671	Abnormal cardiac septum morphology	2200	FBN1	OMIM:608328
HP:0001671	Abnormal cardiac septum morphology	2200	FBN1	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	6628	SNRPB	ORPHA:1393
HP:0001671	Abnormal cardiac septum morphology	6628	SNRPB	OMIM:117650
HP:0001671	Abnormal cardiac septum morphology	182	JAG1	OMIM:118450
HP:0001671	Abnormal cardiac septum morphology	182	JAG1	OMIM:617992
HP:0001671	Abnormal cardiac septum morphology	9409	PEX16	OMIM:614876
HP:0001671	Abnormal cardiac septum morphology	9409	PEX16	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	51244	CCDC174	OMIM:616816
HP:0001671	Abnormal cardiac septum morphology	2065	ERBB3	OMIM:607598
HP:0001671	Abnormal cardiac septum morphology	51322	WAC	ORPHA:284169
HP:0001671	Abnormal cardiac septum morphology	10324	KLHL41	OMIM:615731
HP:0001671	Abnormal cardiac septum morphology	4053	LTBP2	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	80184	CEP290	OMIM:611134
HP:0001671	Abnormal cardiac septum morphology	140628	GATA5	OMIM:617912
HP:0001671	Abnormal cardiac septum morphology	8195	MKKS	ORPHA:2473
HP:0001671	Abnormal cardiac septum morphology	147372	CCBE1	OMIM:235510
HP:0001671	Abnormal cardiac septum morphology	4851	NOTCH1	OMIM:109730
HP:0001671	Abnormal cardiac septum morphology	157570	ESCO2	OMIM:268300
HP:0001671	Abnormal cardiac septum morphology	2317	FLNB	OMIM:150250
HP:0001671	Abnormal cardiac septum morphology	79228	THOC6	OMIM:613680
HP:0001671	Abnormal cardiac septum morphology	2303	FOXC2	OMIM:153400
HP:0001671	Abnormal cardiac septum morphology	667	DST	OMIM:614653
HP:0001671	Abnormal cardiac septum morphology	9573	GDF3	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	392255	GDF6	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	7319	UBE2A	ORPHA:163956
HP:0001671	Abnormal cardiac septum morphology	55112	DYNC2I1	OMIM:615503
HP:0001671	Abnormal cardiac septum morphology	63895	PIEZO2	ORPHA:2461
HP:0001671	Abnormal cardiac septum morphology	55670	PEX26	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5824	PEX19	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	8504	PEX3	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	8799	PEX11B	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5190	PEX6	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5830	PEX5	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5193	PEX12	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5194	PEX13	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5195	PEX14	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5192	PEX10	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	6888	TALDO1	OMIM:606003
HP:0001671	Abnormal cardiac septum morphology	10735	STAG2	OMIM:301043
HP:0001671	Abnormal cardiac septum morphology	8243	SMC1A	OMIM:301044
HP:0001671	Abnormal cardiac septum morphology	8243	SMC1A	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	7026	NR2F2	OMIM:618901
HP:0001671	Abnormal cardiac septum morphology	7026	NR2F2	OMIM:615779
HP:0001671	Abnormal cardiac septum morphology	11020	IFT27	OMIM:615996
HP:0001671	Abnormal cardiac septum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001671	Abnormal cardiac septum morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001671	Abnormal cardiac septum morphology	5648	MASP1	OMIM:257920
HP:0001671	Abnormal cardiac septum morphology	26160	IFT172	OMIM:615630
HP:0001671	Abnormal cardiac septum morphology	1788	DNMT3A	OMIM:615879
HP:0001671	Abnormal cardiac septum morphology	65062	TMEM237	OMIM:614424
HP:0001671	Abnormal cardiac septum morphology	85358	SHANK3	OMIM:606232
HP:0001671	Abnormal cardiac septum morphology	546	ATRX	OMIM:301040
HP:0001671	Abnormal cardiac septum morphology	57167	SALL4	OMIM:607323
HP:0001671	Abnormal cardiac septum morphology	55593	OTUD5	OMIM:301056
HP:0001671	Abnormal cardiac septum morphology	1837	DTNA	OMIM:604169
HP:0001671	Abnormal cardiac septum morphology	57465	TBC1D24	OMIM:220500
HP:0001671	Abnormal cardiac septum morphology	4854	NOTCH3	OMIM:130720
HP:0001671	Abnormal cardiac septum morphology	4854	NOTCH3	ORPHA:2789
HP:0001671	Abnormal cardiac septum morphology	83479	DDX59	OMIM:174300
HP:0001671	Abnormal cardiac septum morphology	10560	SLC19A2	ORPHA:49827
HP:0001671	Abnormal cardiac septum morphology	10560	SLC19A2	OMIM:249270
HP:0001671	Abnormal cardiac septum morphology	5915	RARB	OMIM:615524
HP:0001671	Abnormal cardiac septum morphology	5053	PAH	ORPHA:2209
HP:0001671	Abnormal cardiac septum morphology	6598	SMARCB1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	8289	ARID1A	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6601	SMARCC2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6602	SMARCD1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	196528	ARID2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6605	SMARCE1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6664	SOX11	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	5160	PDHA1	ORPHA:79243
HP:0001671	Abnormal cardiac septum morphology	5160	PDHA1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	6606	SMN1	OMIM:253300
HP:0001671	Abnormal cardiac septum morphology	3209	HOXA13	ORPHA:2438
HP:0001671	Abnormal cardiac septum morphology	5422	POLA1	OMIM:301030
HP:0001671	Abnormal cardiac septum morphology	79576	NKAP	OMIM:301039
HP:0001671	Abnormal cardiac septum morphology	25	ABL1	OMIM:617602
HP:0001671	Abnormal cardiac septum morphology	57511	COG6	OMIM:614576
HP:0001671	Abnormal cardiac septum morphology	2260	FGFR1	OMIM:613001
HP:0001671	Abnormal cardiac septum morphology	2313	FLI1	ORPHA:2308
HP:0001671	Abnormal cardiac septum morphology	7074	TIAM1	OMIM:619908
HP:0001671	Abnormal cardiac septum morphology	59336	PRDM13	OMIM:619909
HP:0001671	Abnormal cardiac septum morphology	23476	BRD4	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	55869	HDAC8	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	5885	RAD21	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	157680	VPS13B	ORPHA:193
HP:0001671	Abnormal cardiac septum morphology	10367	MICU1	OMIM:615673
HP:0001671	Abnormal cardiac septum morphology	3845	KRAS	OMIM:609942
HP:0001671	Abnormal cardiac septum morphology	55617	TASP1	OMIM:618950
HP:0001671	Abnormal cardiac septum morphology	1857	DVL3	OMIM:616894
HP:0001671	Abnormal cardiac septum morphology	10293	TRAIP	OMIM:616777
HP:0001671	Abnormal cardiac septum morphology	9702	CEP57	OMIM:614114
HP:0001671	Abnormal cardiac septum morphology	202018	TAPT1	OMIM:616897
HP:0001671	Abnormal cardiac septum morphology	5500	PPP1CB	OMIM:617506
HP:0001671	Abnormal cardiac septum morphology	93649	MYOCD	OMIM:618719
HP:0001671	Abnormal cardiac septum morphology	139285	AMER1	OMIM:300373
HP:0001671	Abnormal cardiac septum morphology	6389	SDHA	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	80704	SLC19A3	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	91942	NDUFAF2	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	6834	SURF1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4723	NDUFV1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	55572	FOXRED1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4729	NDUFV2	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	55967	NDUFA12	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	51204	TACO1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4720	NDUFS2	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4724	NDUFS4	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4728	NDUFS8	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	137682	NDUFAF6	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4722	NDUFS3	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	79133	NDUFAF5	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	100131801	PET100	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	1355	COX15	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	51079	NDUFA13	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	374291	NDUFS7	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4705	NDUFA10	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	51601	LIPT1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4719	NDUFS1	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4695	NDUFA2	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4697	NDUFA4	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	4704	NDUFA9	ORPHA:255241
HP:0001671	Abnormal cardiac septum morphology	5879	RAC1	OMIM:617751
HP:0001671	Abnormal cardiac septum morphology	5879	RAC1	ORPHA:500159
HP:0001671	Abnormal cardiac septum morphology	10274	STAG1	OMIM:617635
HP:0001671	Abnormal cardiac septum morphology	51780	KDM3B	OMIM:618846
HP:0001671	Abnormal cardiac septum morphology	1663	DDX11	OMIM:613398
HP:0001671	Abnormal cardiac septum morphology	10312	TCIRG1	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	5718	PSMD12	OMIM:617516
HP:0001671	Abnormal cardiac septum morphology	9439	MED23	OMIM:614249
HP:0001671	Abnormal cardiac septum morphology	64131	XYLT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	124583	CANT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	37	ACADVL	ORPHA:26793
HP:0001671	Abnormal cardiac septum morphology	7043	TGFB3	OMIM:615582
HP:0001671	Abnormal cardiac septum morphology	7372	UMPS	OMIM:258900
HP:0001671	Abnormal cardiac septum morphology	84148	KAT8	OMIM:618974
HP:0001671	Abnormal cardiac septum morphology	6655	SOS2	OMIM:616559
HP:0001671	Abnormal cardiac septum morphology	58499	ZNF462	OMIM:618619
HP:0001671	Abnormal cardiac septum morphology	673	BRAF	OMIM:163950
HP:0001671	Abnormal cardiac septum morphology	23334	SZT2	OMIM:615476
HP:0001671	Abnormal cardiac septum morphology	23498	HAAO	OMIM:617660
HP:0001671	Abnormal cardiac septum morphology	3020	H3-3A	OMIM:619720
HP:0001671	Abnormal cardiac septum morphology	3021	H3-3B	OMIM:619721
HP:0001671	Abnormal cardiac septum morphology	2050	EPHB4	OMIM:617300
HP:0001671	Abnormal cardiac septum morphology	65082	VPS33A	OMIM:617303
HP:0001671	Abnormal cardiac septum morphology	65082	VPS33A	ORPHA:505248
HP:0001671	Abnormal cardiac septum morphology	6595	SMARCA2	ORPHA:2728
HP:0001671	Abnormal cardiac septum morphology	28960	DCPS	OMIM:616459
HP:0001671	Abnormal cardiac septum morphology	9200	HACD1	OMIM:619967
HP:0001671	Abnormal cardiac septum morphology	57231	SNX14	ORPHA:397709
HP:0001671	Abnormal cardiac septum morphology	2261	FGFR3	ORPHA:1860
HP:0001671	Abnormal cardiac septum morphology	2261	FGFR3	ORPHA:93274
HP:0001671	Abnormal cardiac septum morphology	55109	AGGF1	ORPHA:90308
HP:0001671	Abnormal cardiac septum morphology	7092	TLL1	OMIM:613087
HP:0001671	Abnormal cardiac septum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001671	Abnormal cardiac septum morphology	26040	SETBP1	OMIM:269150
HP:0001671	Abnormal cardiac septum morphology	2296	FOXC1	OMIM:602482
HP:0001671	Abnormal cardiac septum morphology	8241	RBM10	OMIM:311900
HP:0001671	Abnormal cardiac septum morphology	8241	RBM10	ORPHA:2886
HP:0001671	Abnormal cardiac septum morphology	1182	CLCN3	OMIM:619512
HP:0001671	Abnormal cardiac septum morphology	23126	POGZ	OMIM:616364
HP:0001671	Abnormal cardiac septum morphology	8558	CDK10	OMIM:617694
HP:0001671	Abnormal cardiac septum morphology	286	ANK1	ORPHA:251066
HP:0001671	Abnormal cardiac septum morphology	7385	UQCRC2	OMIM:615160
HP:0001671	Abnormal cardiac septum morphology	10991	SLC38A3	OMIM:619881
HP:0001671	Abnormal cardiac septum morphology	7841	MOGS	ORPHA:79330
HP:0001671	Abnormal cardiac septum morphology	57724	EPG5	OMIM:242840
HP:0001671	Abnormal cardiac septum morphology	3756	KCNH1	OMIM:611816
HP:0001671	Abnormal cardiac septum morphology	25970	SH2B1	ORPHA:261197
HP:0001671	Abnormal cardiac septum morphology	7046	TGFBR1	OMIM:609192
HP:0001671	Abnormal cardiac septum morphology	2879	GPX4	OMIM:250220
HP:0001671	Abnormal cardiac septum morphology	6909	TBX2	OMIM:618223
HP:0001671	Abnormal cardiac septum morphology	6477	SIAH1	OMIM:619314
HP:0001671	Abnormal cardiac septum morphology	92335	STRADA	ORPHA:500533
HP:0001671	Abnormal cardiac septum morphology	92335	STRADA	OMIM:611087
HP:0001671	Abnormal cardiac septum morphology	5649	RELN	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	10300	KATNB1	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	54820	NDE1	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	1363	CPE	OMIM:619326
HP:0001671	Abnormal cardiac septum morphology	51114	ZDHHC9	ORPHA:776
HP:0001671	Abnormal cardiac septum morphology	65109	UPF3B	ORPHA:776
HP:0001671	Abnormal cardiac septum morphology	5077	PAX3	ORPHA:896
HP:0001671	Abnormal cardiac septum morphology	2530	FUT8	OMIM:618005
HP:0001671	Abnormal cardiac septum morphology	54551	MAGEL2	ORPHA:398069
HP:0001671	Abnormal cardiac septum morphology	201163	FLCN	OMIM:610883
HP:0001671	Abnormal cardiac septum morphology	7703	PCGF2	OMIM:618371
HP:0001671	Abnormal cardiac septum morphology	27031	NPHP3	OMIM:267010
HP:0001671	Abnormal cardiac septum morphology	27031	NPHP3	OMIM:208540
HP:0001671	Abnormal cardiac septum morphology	9496	TBX4	ORPHA:261279
HP:0001671	Abnormal cardiac septum morphology	22808	MRAS	OMIM:618499
HP:0001671	Abnormal cardiac septum morphology	5277	PIGA	OMIM:300868
HP:0001671	Abnormal cardiac septum morphology	3188	HNRNPH2	OMIM:300986
HP:0001671	Abnormal cardiac septum morphology	54538	ROBO4	OMIM:618496
HP:0001671	Abnormal cardiac septum morphology	55186	SLC25A36	OMIM:620211
HP:0001671	Abnormal cardiac septum morphology	5281	PIGF	OMIM:619356
HP:0001671	Abnormal cardiac septum morphology	1277	COL1A1	OMIM:619115
HP:0001671	Abnormal cardiac septum morphology	51604	PIGT	ORPHA:369837
HP:0001671	Abnormal cardiac septum morphology	8452	CUL3	OMIM:619239
HP:0001671	Abnormal cardiac septum morphology	2218	FKTN	OMIM:253800
HP:0001671	Abnormal cardiac septum morphology	113189	CHST14	OMIM:601776
HP:0001671	Abnormal cardiac septum morphology	51360	MBTPS2	OMIM:308205
HP:0001671	Abnormal cardiac septum morphology	8239	USP9X	OMIM:300968
HP:0001671	Abnormal cardiac septum morphology	8239	USP9X	ORPHA:480880
HP:0001671	Abnormal cardiac septum morphology	55252	ASXL2	OMIM:617190
HP:0001671	Abnormal cardiac septum morphology	84905	ZNF341	OMIM:618282
HP:0001671	Abnormal cardiac septum morphology	23387	SIK3	OMIM:618162
HP:0001671	Abnormal cardiac septum morphology	7716	VEZF1	OMIM:620247
HP:0001671	Abnormal cardiac septum morphology	5557	PRIM1	OMIM:620005
HP:0001671	Abnormal cardiac septum morphology	59	ACTA2	OMIM:613834
HP:0001671	Abnormal cardiac septum morphology	55901	THSD1	OMIM:620244
HP:0001671	Abnormal cardiac septum morphology	129285	PPP1R21	OMIM:619383
HP:0001671	Abnormal cardiac septum morphology	27161	AGO2	OMIM:619149
HP:0001671	Abnormal cardiac septum morphology	57539	WDR35	OMIM:613610
HP:0001671	Abnormal cardiac septum morphology	1278	COL1A2	ORPHA:230851
HP:0001671	Abnormal cardiac septum morphology	55788	LMBRD1	OMIM:277380
HP:0001671	Abnormal cardiac septum morphology	10847	SRCAP	ORPHA:2044
HP:0001671	Abnormal cardiac septum morphology	10847	SRCAP	OMIM:136140
HP:0001671	Abnormal cardiac septum morphology	56992	KIF15	ORPHA:261323
HP:0001671	Abnormal cardiac septum morphology	222663	SCUBE3	OMIM:619184
HP:0001671	Abnormal cardiac septum morphology	9184	BUB3	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	9319	TRIP13	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	701	BUB1B	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	701	BUB1B	OMIM:257300
HP:0001671	Abnormal cardiac septum morphology	26053	AUTS2	ORPHA:352490
HP:0001671	Abnormal cardiac septum morphology	1954	MEGF8	OMIM:614976
HP:0001671	Abnormal cardiac septum morphology	5728	PTEN	ORPHA:79076
HP:0001671	Abnormal cardiac septum morphology	657	BMPR1A	ORPHA:79076
HP:0001671	Abnormal cardiac septum morphology	5826	ABCD4	OMIM:614857
HP:0001671	Abnormal cardiac septum morphology	10841	FTCD	ORPHA:51208
HP:0001671	Abnormal cardiac septum morphology	84720	PIGO	OMIM:614749
HP:0001671	Abnormal cardiac septum morphology	6789	STK4	OMIM:614868
HP:0001671	Abnormal cardiac septum morphology	54499	TMCO1	OMIM:213980
HP:0001671	Abnormal cardiac septum morphology	57057	TBX20	OMIM:611363
HP:0001671	Abnormal cardiac septum morphology	3911	LAMA5	OMIM:620076
HP:0001671	Abnormal cardiac septum morphology	10430	TMEM147	OMIM:620075
HP:0001671	Abnormal cardiac septum morphology	7355	SLC35A2	OMIM:300896
HP:0001671	Abnormal cardiac septum morphology	4088	SMAD3	OMIM:613795
HP:0001671	Abnormal cardiac septum morphology	7048	TGFBR2	OMIM:610168
HP:0001671	Abnormal cardiac septum morphology	51574	LARP7	ORPHA:319671
HP:0001671	Abnormal cardiac septum morphology	50945	TBX22	ORPHA:921
HP:0001671	Abnormal cardiac septum morphology	84978	FRMD5	OMIM:620094
HP:0001671	Abnormal cardiac septum morphology	583	BBS2	OMIM:615981
HP:0001671	Abnormal cardiac septum morphology	10664	CTCF	OMIM:615502
HP:0001671	Abnormal cardiac septum morphology	10664	CTCF	ORPHA:363611
HP:0001671	Abnormal cardiac septum morphology	9780	PIEZO1	OMIM:616843
HP:0001671	Abnormal cardiac septum morphology	23394	ADNP	OMIM:615873
HP:0001671	Abnormal cardiac septum morphology	2258	FGF13	OMIM:301058
HP:0001671	Abnormal cardiac septum morphology	113179	ADAT3	ORPHA:363528
HP:0001671	Abnormal cardiac septum morphology	3313	HSPA9	OMIM:616854
HP:0001671	Abnormal cardiac septum morphology	5447	POR	OMIM:207410
HP:0001671	Abnormal cardiac septum morphology	4297	KMT2A	OMIM:605130
HP:0001671	Abnormal cardiac septum morphology	27315	PGAP2	OMIM:614207
HP:0001671	Abnormal cardiac septum morphology	54806	AHI1	OMIM:608629
HP:0001671	Abnormal cardiac septum morphology	29957	SLC25A24	OMIM:612289
HP:0001671	Abnormal cardiac septum morphology	6857	SYT1	ORPHA:522077
HP:0001671	Abnormal cardiac septum morphology	4780	NFE2L2	OMIM:617744
HP:0001671	Abnormal cardiac septum morphology	3832	KIF11	ORPHA:2526
HP:0001671	Abnormal cardiac septum morphology	9786	KIAA0586	OMIM:616546
HP:0001671	Abnormal cardiac septum morphology	5116	PCNT	ORPHA:2637
HP:0001671	Abnormal cardiac septum morphology	4000	LMNA	ORPHA:1662
HP:0001671	Abnormal cardiac septum morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001671	Abnormal cardiac septum morphology	10269	ZMPSTE24	OMIM:275210
HP:0001671	Abnormal cardiac septum morphology	8777	MPDZ	OMIM:615219
HP:0001671	Abnormal cardiac septum morphology	9451	EIF2AK3	ORPHA:1667
HP:0001671	Abnormal cardiac septum morphology	26229	B3GAT3	OMIM:245600
HP:0001671	Abnormal cardiac septum morphology	523	ATP6V1A	OMIM:617403
HP:0001671	Abnormal cardiac septum morphology	529	ATP6V1E1	OMIM:617402
HP:0001671	Abnormal cardiac septum morphology	9949	AMMECR1	OMIM:300990
HP:0001671	Abnormal cardiac septum morphology	7528	YY1	ORPHA:506358
HP:0001671	Abnormal cardiac septum morphology	7528	YY1	OMIM:617557
HP:0001671	Abnormal cardiac septum morphology	54892	NCAPG2	OMIM:618460
HP:0001671	Abnormal cardiac septum morphology	8425	LTBP4	OMIM:613177
HP:0001671	Abnormal cardiac septum morphology	4091	SMAD6	OMIM:614823
HP:0001671	Abnormal cardiac septum morphology	10102	TSFM	OMIM:610505
HP:0001671	Abnormal cardiac septum morphology	9578	CDC42BPB	OMIM:619841
HP:0001671	Abnormal cardiac septum morphology	29998	BICRA	OMIM:619325
HP:0001671	Abnormal cardiac septum morphology	51506	UFC1	OMIM:618076
HP:0001671	Abnormal cardiac septum morphology	6392	SDHD	OMIM:619167
HP:0001671	Abnormal cardiac septum morphology	23291	FBXW11	OMIM:618914
HP:0001671	Abnormal cardiac septum morphology	79158	GNPTAB	ORPHA:576
HP:0001671	Abnormal cardiac septum morphology	4001	LMNB1	OMIM:619179
HP:0001671	Abnormal cardiac septum morphology	51434	ANAPC7	OMIM:619699
HP:0001671	Abnormal cardiac septum morphology	51008	ASCC1	OMIM:616867
HP:0001671	Abnormal cardiac septum morphology	29940	DSE	OMIM:615539
HP:0001671	Abnormal cardiac septum morphology	23028	KDM1A	ORPHA:477993
HP:0001671	Abnormal cardiac septum morphology	1656	DDX6	OMIM:618653
HP:0001671	Abnormal cardiac septum morphology	1301	COL11A1	OMIM:228520
HP:0001671	Abnormal cardiac septum morphology	8802	SUCLG1	ORPHA:17
HP:0001671	Abnormal cardiac septum morphology	6638	SNRPN	ORPHA:177907
HP:0001671	Abnormal cardiac septum morphology	6772	STAT1	ORPHA:391487
HP:0001671	Abnormal cardiac septum morphology	10043	TOM1	ORPHA:391487
HP:0001671	Abnormal cardiac septum morphology	1763	DNA2	OMIM:615156
HP:0001671	Abnormal cardiac septum morphology	11222	MRPL3	OMIM:614582
HP:0001671	Abnormal cardiac septum morphology	91461	PKDCC	OMIM:618821
HP:0001671	Abnormal cardiac septum morphology	10681	GNB5	OMIM:617182
HP:0001671	Abnormal cardiac septum morphology	10681	GNB5	ORPHA:542306
HP:0001671	Abnormal cardiac septum morphology	10651	MTX2	OMIM:619127
HP:0001671	Abnormal cardiac septum morphology	9739	SETD1A	OMIM:618832
HP:0001671	Abnormal cardiac septum morphology	7291	TWIST1	OMIM:617746
HP:0001671	Abnormal cardiac septum morphology	100506658	OCLN	OMIM:251290
HP:0001671	Abnormal cardiac septum morphology	79971	WLS	OMIM:619648
HP:0001671	Abnormal cardiac septum morphology	89970	RSPRY1	ORPHA:457395
HP:0001671	Abnormal cardiac septum morphology	57479	PRR12	OMIM:619539
HP:0001671	Abnormal cardiac septum morphology	54101	RIPK4	OMIM:263650
HP:0001671	Abnormal cardiac septum morphology	3192	HNRNPU	ORPHA:238769
HP:0001671	Abnormal cardiac septum morphology	894	CCND2	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	5296	PIK3R2	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	10000	AKT3	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	4625	MYH7	ORPHA:437572
HP:0001671	Abnormal cardiac septum morphology	4625	MYH7	ORPHA:1880
HP:0001671	Abnormal cardiac septum morphology	64840	PORCN	ORPHA:2092
HP:0001671	Abnormal cardiac septum morphology	23556	PIGN	ORPHA:2059
HP:0001671	Abnormal cardiac septum morphology	25885	POLR1A	ORPHA:1200
HP:0001671	Abnormal cardiac septum morphology	10907	TXNL4A	ORPHA:1200
HP:0001671	Abnormal cardiac septum morphology	6804	STX1A	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	7461	CLIP2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	84277	DNAJC30	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	8468	FKBP6	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	5982	RFC2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	2969	GTF2I	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	3984	LIMK1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	9569	GTF2IRD1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	155382	VPS37D	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	155368	METTL27	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	114049	BUD23	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	7458	EIF4H	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	84163	GTF2IRD2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	9275	BCL7B	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	26608	TBL2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	653361	NCF1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	135886	TMEM270	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	51085	MLXIPL	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	9031	BAZ1B	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	2006	ELN	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	145173	B3GLCT	ORPHA:709
HP:0001671	Abnormal cardiac septum morphology	5590	PRKCZ	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	2563	GABRD	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	23013	SPEN	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	8510	MMP23B	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	7798	LUZP1	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	6497	SKI	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	10630	PDPN	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	3339	HSPG2	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	10277	UBE4B	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	8514	KCNAB2	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	473	RERE	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	63976	PRDM16	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	54897	CASZ1	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	79813	EHMT1	ORPHA:96147
HP:0001671	Abnormal cardiac septum morphology	79796	ALG9	OMIM:608776
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:99811
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:2484
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:90652
HP:0001671	Abnormal cardiac septum morphology	374654	KIF7	OMIM:200990
HP:0001671	Abnormal cardiac septum morphology	92002	CCNQ	ORPHA:140952
HP:0001671	Abnormal cardiac septum morphology	55784	MCTP2	ORPHA:1596
HP:0001671	Abnormal cardiac septum morphology	8085	KMT2D	ORPHA:2322
HP:0001671	Abnormal cardiac septum morphology	7403	KDM6A	ORPHA:2322
HP:0001671	Abnormal cardiac septum morphology	55690	PACS1	OMIM:615009
HP:0001671	Abnormal cardiac septum morphology	998	CDC42	OMIM:616737
HP:0001671	Abnormal cardiac septum morphology	6299	SALL1	ORPHA:857
HP:0001671	Abnormal cardiac septum morphology	51339	DACT1	ORPHA:857
HP:0001671	Abnormal cardiac septum morphology	55636	CHD7	ORPHA:138
HP:0001671	Abnormal cardiac septum morphology	9723	SEMA3E	ORPHA:138
HP:0001671	Abnormal cardiac septum morphology	1482	NKX2-5	ORPHA:1479
HP:0001671	Abnormal cardiac septum morphology	6023	RMRP	ORPHA:175
HP:0001671	Abnormal cardiac septum morphology	9401	RECQL4	ORPHA:1225
HP:0001671	Abnormal cardiac septum morphology	50814	NSDHL	OMIM:308050
HP:0001671	Abnormal cardiac septum morphology	54880	BCOR	ORPHA:2712
HP:0001671	Abnormal cardiac septum morphology	9939	RBM8A	ORPHA:3320
HP:0001671	Abnormal cardiac septum morphology	672	BRCA1	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	10459	MAD2L2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	7516	XRCC2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	29089	UBE2T	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	675	BRCA2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55120	FANCL	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2177	FANCD2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2175	FANCA	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2187	FANCB	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2176	FANCC	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2178	FANCE	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2188	FANCF	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2189	FANCG	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	5888	RAD51	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	5889	RAD51C	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55159	RFWD3	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	83990	BRIP1	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	57697	FANCM	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	79728	PALB2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	84464	SLX4	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2072	ERCC4	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55215	FANCI	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	118856	MMP21	OMIM:616749
HP:0001671	Abnormal cardiac septum morphology	7080	NKX2-1	ORPHA:209905
HP:0001671	Abnormal cardiac septum morphology	54539	NDUFB11	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	1349	COX7B	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	3052	HCCS	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	3239	HOXD13	ORPHA:887
HP:0001671	Abnormal cardiac septum morphology	197131	UBR1	ORPHA:2315
HP:0001671	Abnormal cardiac septum morphology	2626	GATA4	ORPHA:251071
HP:0001671	Abnormal cardiac septum morphology	171023	ASXL1	ORPHA:97297
HP:0001671	Abnormal cardiac septum morphology	10815	CPLX1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	54872	PIGG	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	7469	NELFA	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	1487	CTBP1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	3954	LETM1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	7468	NSD2	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	1760	DMPK	ORPHA:589821
HP:0001671	Abnormal cardiac septum morphology	54903	MKS1	OMIM:249000
HP:0001671	Abnormal cardiac septum morphology	4352	MPL	ORPHA:3319
HP:0001671	Abnormal cardiac septum morphology	7066	THPO	ORPHA:3319
HP:0001671	Abnormal cardiac septum morphology	389827	MYMK	OMIM:254940
HP:0001671	Abnormal cardiac septum morphology	4089	SMAD4	ORPHA:2588
HP:0001671	Abnormal cardiac septum morphology	7547	ZIC3	OMIM:306955
HP:0001671	Abnormal cardiac septum morphology	22827	PUF60	ORPHA:508488
HP:0001671	Abnormal cardiac septum morphology	5781	PTPN11	OMIM:151100
HP:0001671	Abnormal cardiac septum morphology	2623	GATA1	OMIM:190685
HP:0001671	Abnormal cardiac septum morphology	8318	CDC45	OMIM:617063
HP:0001671	Abnormal cardiac septum morphology	5566	PRKACA	OMIM:619142
HP:0001671	Abnormal cardiac septum morphology	7204	TRIO	ORPHA:476126
HP:0001671	Abnormal cardiac septum morphology	2657	GDF1	OMIM:208530
HP:0001671	Abnormal cardiac septum morphology	2657	GDF1	OMIM:613854
HP:0001671	Abnormal cardiac septum morphology	10265	IRX5	OMIM:611174
HP:0001671	Abnormal cardiac septum morphology	93	ACVR2B	OMIM:613751
HP:0001671	Abnormal cardiac septum morphology	27152	INTU	OMIM:617925
HP:0001671	Abnormal cardiac septum morphology	100128908	CIROP	OMIM:619702
HP:0001671	Abnormal cardiac septum morphology	137814	NKX2-6	OMIM:217095
HP:0001671	Abnormal cardiac septum morphology	6899	TBX1	OMIM:217095
HP:0001671	Abnormal cardiac septum morphology	2627	GATA6	OMIM:217095
HP:0001671	Abnormal cardiac septum morphology	51057	WDPCP	OMIM:217085
HP:0001671	Abnormal cardiac septum morphology	219844	HYLS1	OMIM:236680
HP:0001671	Abnormal cardiac septum morphology	699	BUB1	OMIM:620183
HP:0001671	Abnormal cardiac septum morphology	8294	H4C9	OMIM:619951
HP:0001671	Abnormal cardiac septum morphology	29081	METTL5	OMIM:618665
HP:0001671	Abnormal cardiac septum morphology	10765	KDM5B	OMIM:618109
HP:0001671	Abnormal cardiac septum morphology	132	ADK	OMIM:614300
HP:0001671	Abnormal cardiac septum morphology	5396	PRRX1	OMIM:202650
HP:0001671	Abnormal cardiac septum morphology	490	ATP2B1	OMIM:619910
HP:0001671	Abnormal cardiac septum morphology	8364	H4C3	OMIM:619758
HP:0001671	Abnormal cardiac septum morphology	11128	POLR3A	OMIM:264090
HP:0001671	Abnormal cardiac septum morphology	256297	PTF1A	OMIM:609069
HP:0001671	Abnormal cardiac septum morphology	55027	HEATR3	OMIM:620072
HP:0001671	Abnormal cardiac septum morphology	79759	ZNF668	OMIM:620194
HP:0001671	Abnormal cardiac septum morphology	6472	SHMT2	OMIM:619121
HP:0001671	Abnormal cardiac septum morphology	80055	PGAP1	OMIM:615802
HP:0001671	Abnormal cardiac septum morphology	471	ATIC	OMIM:608688
HP:0001671	Abnormal cardiac septum morphology	4624	MYH6	OMIM:614089
HP:0001671	Abnormal cardiac septum morphology	11274	USP18	OMIM:617397
HP:0001671	Abnormal cardiac septum morphology	92579	G6PC3	OMIM:612541
HP:0001671	Abnormal cardiac septum morphology	439	GET3	OMIM:620203
HP:0001671	Abnormal cardiac septum morphology	9325	TRIP4	OMIM:616866
HP:0001671	Abnormal cardiac septum morphology	10079	ATP9A	OMIM:620242
HP:0001671	Abnormal cardiac septum morphology	70	ACTC1	OMIM:612794
HP:0001671	Abnormal cardiac septum morphology	57538	ALPK3	OMIM:618052
HP:0001671	Abnormal cardiac septum morphology	5605	MAP2K2	OMIM:615280
HP:0001671	Abnormal cardiac septum morphology	4633	MYL2	OMIM:608758
HP:0001671	Abnormal cardiac septum morphology	221496	LEMD2	OMIM:619322
HP:0001671	Abnormal cardiac septum morphology	2992	GYG1	ORPHA:263297
HP:0001671	Abnormal cardiac septum morphology	4607	MYBPC3	OMIM:115197
HP:0001671	Abnormal cardiac septum morphology	2717	GLA	OMIM:301500
HP:0001671	Abnormal cardiac septum morphology	26580	BSCL2	OMIM:269700
HP:0001671	Abnormal cardiac septum morphology	84665	MYPN	OMIM:615248
HP:0001671	Abnormal cardiac septum morphology	8048	CSRP3	OMIM:612124
HP:0001671	Abnormal cardiac septum morphology	7139	TNNT2	OMIM:115195
HP:0001671	Abnormal cardiac septum morphology	23345	SYNE1	OMIM:612998
HP:0001671	Abnormal cardiac septum morphology	5894	RAF1	ORPHA:500
HP:0001671	Abnormal cardiac septum morphology	11198	SUPT16H	OMIM:619480
HP:0001671	Abnormal cardiac septum morphology	55997	CFC1	OMIM:605376
HP:0001671	Abnormal cardiac septum morphology	78987	CRELD1	OMIM:606217
HP:0001671	Abnormal cardiac septum morphology	57020	VPS35L	OMIM:619135
HP:0001671	Abnormal cardiac septum morphology	50619	DEF6	OMIM:619573
HP:0001671	Abnormal cardiac septum morphology	1000	CDH2	OMIM:618929
HP:0001671	Abnormal cardiac septum morphology	5587	PRKD1	OMIM:617364
HP:0001671	Abnormal cardiac septum morphology	25790	CFAP45	OMIM:619608
HP:0001671	Abnormal cardiac septum morphology	79989	IFT56	OMIM:619534
HP:0001671	Abnormal cardiac septum morphology	83475	DOHH	OMIM:620066
HP:0001671	Abnormal cardiac septum morphology	168507	PKD1L1	OMIM:617205
HP:0001671	Abnormal cardiac septum morphology	220136	CFAP53	OMIM:614779
HP:0001671	Abnormal cardiac septum morphology	4087	SMAD2	OMIM:619657
HP:0001671	Abnormal cardiac septum morphology	1770	DNAH9	OMIM:618300
HP:0001671	Abnormal cardiac septum morphology	1802	DPH2	OMIM:620062
HP:0001671	Abnormal cardiac septum morphology	6123	RPL3L	OMIM:619371
HP:0001671	Abnormal cardiac septum morphology	5700	PSMC1	OMIM:620071
HP:0001671	Abnormal cardiac septum morphology	5515	PPP2CA	OMIM:618354
HP:0001671	Abnormal cardiac septum morphology	131118	DNAJC19	ORPHA:66634
HP:0001671	Abnormal cardiac septum morphology	51729	WBP11	OMIM:619227
HP:0001671	Abnormal cardiac septum morphology	374969	SVBP	OMIM:618569
HP:0001671	Abnormal cardiac septum morphology	79087	ALG12	ORPHA:79324
HP:0001671	Abnormal cardiac septum morphology	51611	DPH5	OMIM:620070
HP:0001671	Abnormal cardiac septum morphology	1828	DSG1	OMIM:615508
HP:0001671	Abnormal cardiac septum morphology	3417	IDH1	ORPHA:99646
HP:0001671	Abnormal cardiac septum morphology	2271	FH	OMIM:606812
HP:0001671	Abnormal cardiac septum morphology	91949	COG7	OMIM:608779
HP:0001671	Abnormal cardiac septum morphology	4718	NDUFC2	OMIM:619170
HP:0001671	Abnormal cardiac septum morphology	808	CALM3	OMIM:618782
HP:0001671	Abnormal cardiac septum morphology	650	BMP2	OMIM:617877
HP:0001671	Abnormal cardiac septum morphology	23511	NUP188	OMIM:618804
HP:0001671	Abnormal cardiac septum morphology	1107	CHD3	OMIM:618205
HP:0001671	Abnormal cardiac septum morphology	22872	SEC31A	OMIM:618651
HP:0001671	Abnormal cardiac septum morphology	2702	GJA5	OMIM:612474
HP:0001671	Abnormal cardiac septum morphology	2703	GJA8	OMIM:612474
HP:0001671	Abnormal cardiac septum morphology	10370	CITED2	OMIM:614431
HP:0001671	Abnormal cardiac septum morphology	79053	ALG8	OMIM:608104
HP:0001671	Abnormal cardiac septum morphology	4713	NDUFB7	OMIM:620135
HP:0001671	Abnormal cardiac septum morphology	1593	CYP27A1	ORPHA:909
HP:0001671	Abnormal cardiac septum morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001671	Abnormal cardiac septum morphology	23545	ATP6V0A2	OMIM:278250
HP:0001671	Abnormal cardiac septum morphology	9382	COG1	ORPHA:263508
HP:0001962	Palpitations	6335	SCN9A	OMIM:133020
HP:0001962	Palpitations	291	SLC25A4	ORPHA:254892
HP:0001962	Palpitations	5428	POLG	ORPHA:254892
HP:0001962	Palpitations	56652	TWNK	ORPHA:254892
HP:0001962	Palpitations	11232	POLG2	ORPHA:254892
HP:0001962	Palpitations	50484	RRM2B	ORPHA:254892
HP:0001962	Palpitations	6390	SDHB	OMIM:115310
HP:0001962	Palpitations	6390	SDHB	ORPHA:276621
HP:0001962	Palpitations	6390	SDHB	ORPHA:29072
HP:0001962	Palpitations	253017	TECRL	OMIM:614021
HP:0001962	Palpitations	3741	KCNA5	OMIM:612240
HP:0001962	Palpitations	3759	KCNJ2	OMIM:609622
HP:0001962	Palpitations	3759	KCNJ2	OMIM:613980
HP:0001962	Palpitations	3759	KCNJ2	OMIM:170390
HP:0001962	Palpitations	3759	KCNJ2	ORPHA:51083
HP:0001962	Palpitations	3759	KCNJ2	ORPHA:37553
HP:0001962	Palpitations	3757	KCNH2	OMIM:609620
HP:0001962	Palpitations	3757	KCNH2	ORPHA:51083
HP:0001962	Palpitations	7555	CNBP	OMIM:602668
HP:0001962	Palpitations	1837	DTNA	OMIM:604169
HP:0001962	Palpitations	3728	JUP	OMIM:601214
HP:0001962	Palpitations	57104	PNPLA2	ORPHA:565612
HP:0001962	Palpitations	1829	DSG2	OMIM:610193
HP:0001962	Palpitations	70	ACTC1	OMIM:612098
HP:0001962	Palpitations	70	ACTC1	ORPHA:99103
HP:0001962	Palpitations	1824	DSC2	OMIM:610476
HP:0001962	Palpitations	6833	ABCC8	ORPHA:276575
HP:0001962	Palpitations	6391	SDHC	OMIM:605373
HP:0001962	Palpitations	6391	SDHC	ORPHA:29072
HP:0001962	Palpitations	3767	KCNJ11	ORPHA:276580
HP:0001962	Palpitations	4633	MYL2	OMIM:608758
HP:0001962	Palpitations	2642	GCGR	OMIM:619290
HP:0001962	Palpitations	859	CAV3	OMIM:614321
HP:0001962	Palpitations	859	CAV3	ORPHA:488650
HP:0001962	Palpitations	6331	SCN5A	ORPHA:1344
HP:0001962	Palpitations	6331	SCN5A	OMIM:601154
HP:0001962	Palpitations	4878	NPPA	ORPHA:1344
HP:0001962	Palpitations	4878	NPPA	OMIM:615745
HP:0001962	Palpitations	57158	JPH2	OMIM:613873
HP:0001962	Palpitations	5318	PKP2	OMIM:609040
HP:0001962	Palpitations	1000	CDH2	OMIM:618920
HP:0001962	Palpitations	7428	VHL	ORPHA:276621
HP:0001962	Palpitations	7428	VHL	ORPHA:29072
HP:0001962	Palpitations	7428	VHL	ORPHA:892
HP:0001962	Palpitations	5979	RET	ORPHA:276621
HP:0001962	Palpitations	5979	RET	OMIM:171400
HP:0001962	Palpitations	5979	RET	ORPHA:29072
HP:0001962	Palpitations	1788	DNMT3A	ORPHA:276621
HP:0001962	Palpitations	2034	EPAS1	ORPHA:276621
HP:0001962	Palpitations	6392	SDHD	ORPHA:276621
HP:0001962	Palpitations	6392	SDHD	OMIM:168000
HP:0001962	Palpitations	6392	SDHD	ORPHA:29072
HP:0001962	Palpitations	6392	SDHD	ORPHA:100093
HP:0001962	Palpitations	2010	EMD	OMIM:310300
HP:0001962	Palpitations	4634	MYL3	OMIM:608751
HP:0001962	Palpitations	84133	ZNRF3	ORPHA:1501
HP:0001962	Palpitations	7157	TP53	ORPHA:1501
HP:0001962	Palpitations	5573	PRKAR1A	ORPHA:1501
HP:0001962	Palpitations	1499	CTNNB1	ORPHA:1501
HP:0001962	Palpitations	1029	CDKN2A	ORPHA:1501
HP:0001962	Palpitations	7015	TERT	ORPHA:1501
HP:0001962	Palpitations	55863	TMEM126B	OMIM:618250
HP:0001962	Palpitations	4635	MYL4	OMIM:617280
HP:0001962	Palpitations	2992	GYG1	ORPHA:263297
HP:0001962	Palpitations	64072	CDH23	ORPHA:91347
HP:0001962	Palpitations	3762	KCNJ5	OMIM:613485
HP:0001962	Palpitations	3762	KCNJ5	ORPHA:37553
HP:0001962	Palpitations	781	CACNA2D1	ORPHA:51083
HP:0001962	Palpitations	3784	KCNQ1	ORPHA:51083
HP:0001962	Palpitations	6508	SLC4A3	ORPHA:51083
HP:0001962	Palpitations	10370	CITED2	ORPHA:99105
HP:0001962	Palpitations	10370	CITED2	ORPHA:99103
HP:0001962	Palpitations	7092	TLL1	ORPHA:99106
HP:0001962	Palpitations	7092	TLL1	ORPHA:99103
HP:0001962	Palpitations	57057	TBX20	ORPHA:99103
HP:0001962	Palpitations	4624	MYH6	ORPHA:99103
HP:0001962	Palpitations	1482	NKX2-5	ORPHA:99103
HP:0001962	Palpitations	2626	GATA4	ORPHA:99103
HP:0001962	Palpitations	2627	GATA6	ORPHA:99103
HP:0001962	Palpitations	51422	PRKAG2	OMIM:600858
HP:0001962	Palpitations	51422	PRKAG2	OMIM:194200
HP:0001962	Palpitations	1743	DLST	ORPHA:29072
HP:0001962	Palpitations	4191	MDH2	ORPHA:29072
HP:0001962	Palpitations	6389	SDHA	ORPHA:29072
HP:0001962	Palpitations	23095	KIF1B	ORPHA:29072
HP:0001962	Palpitations	2271	FH	ORPHA:29072
HP:0001962	Palpitations	8402	SLC25A11	ORPHA:29072
HP:0001962	Palpitations	54949	SDHAF2	ORPHA:29072
HP:0001962	Palpitations	55654	TMEM127	ORPHA:29072
HP:0001962	Palpitations	4763	NF1	ORPHA:29072
HP:0001962	Palpitations	4149	MAX	ORPHA:29072
HP:0001962	Palpitations	4221	MEN1	ORPHA:97279
HP:0001962	Palpitations	7528	YY1	ORPHA:97279
HP:0001962	Palpitations	171019	ADAMTS19	OMIM:620067
HP:0001962	Palpitations	100134444	KCNJ18	ORPHA:79102
HP:0001962	Palpitations	2556	GABRA3	ORPHA:79102
HP:0001962	Palpitations	779	CACNA1S	ORPHA:79102
HP:0001962	Palpitations	779	CACNA1S	OMIM:188580
HP:0001962	Palpitations	79188	TMEM43	OMIM:604400
HP:0001962	Palpitations	11149	BVES	OMIM:616812
HP:0001962	Palpitations	54800	KLHL24	OMIM:620236
HP:0001962	Palpitations	595	CCND1	ORPHA:892
HP:0001962	Palpitations	9992	KCNE2	OMIM:611493
HP:0001962	Palpitations	51778	MYOZ2	OMIM:613838
HP:0001962	Palpitations	23479	ISCU	OMIM:255125
HP:0001962	Palpitations	1616	DAXX	ORPHA:100075
HP:0001962	Palpitations	546	ATRX	ORPHA:100075
HP:0001962	Palpitations	6927	HNF1A	ORPHA:324575
HP:0001962	Palpitations	3752	KCND3	OMIM:616399
HP:0001962	Palpitations	6559	SLC12A3	OMIM:263800
HP:0001962	Palpitations	6559	SLC12A3	ORPHA:358
HP:0001962	Palpitations	7351	UCP2	ORPHA:276556
HP:0001962	Palpitations	1188	CLCNKB	ORPHA:358
HP:0001679	Abnormal aortic morphology	6910	TBX5	ORPHA:392
HP:0001679	Abnormal aortic morphology	3423	IDS	ORPHA:217085
HP:0001679	Abnormal aortic morphology	3423	IDS	ORPHA:217093
HP:0001679	Abnormal aortic morphology	9759	HDAC4	ORPHA:1001
HP:0001679	Abnormal aortic morphology	64359	NXN	ORPHA:1507
HP:0001679	Abnormal aortic morphology	4920	ROR2	ORPHA:1507
HP:0001679	Abnormal aortic morphology	672	BRCA1	ORPHA:84
HP:0001679	Abnormal aortic morphology	10459	MAD2L2	ORPHA:84
HP:0001679	Abnormal aortic morphology	7516	XRCC2	ORPHA:84
HP:0001679	Abnormal aortic morphology	29089	UBE2T	ORPHA:84
HP:0001679	Abnormal aortic morphology	675	BRCA2	ORPHA:84
HP:0001679	Abnormal aortic morphology	55120	FANCL	ORPHA:84
HP:0001679	Abnormal aortic morphology	2177	FANCD2	ORPHA:84
HP:0001679	Abnormal aortic morphology	2175	FANCA	ORPHA:84
HP:0001679	Abnormal aortic morphology	2176	FANCC	ORPHA:84
HP:0001679	Abnormal aortic morphology	2178	FANCE	ORPHA:84
HP:0001679	Abnormal aortic morphology	2188	FANCF	ORPHA:84
HP:0001679	Abnormal aortic morphology	2189	FANCG	ORPHA:84
HP:0001679	Abnormal aortic morphology	5888	RAD51	ORPHA:84
HP:0001679	Abnormal aortic morphology	5889	RAD51C	ORPHA:84
HP:0001679	Abnormal aortic morphology	55159	RFWD3	ORPHA:84
HP:0001679	Abnormal aortic morphology	83990	BRIP1	ORPHA:84
HP:0001679	Abnormal aortic morphology	57697	FANCM	ORPHA:84
HP:0001679	Abnormal aortic morphology	79728	PALB2	ORPHA:84
HP:0001679	Abnormal aortic morphology	84464	SLX4	ORPHA:84
HP:0001679	Abnormal aortic morphology	2072	ERCC4	ORPHA:84
HP:0001679	Abnormal aortic morphology	55215	FANCI	ORPHA:84
HP:0001679	Abnormal aortic morphology	23592	LEMD3	ORPHA:1306
HP:0001679	Abnormal aortic morphology	2626	GATA4	ORPHA:251071
HP:0001679	Abnormal aortic morphology	10128	LRPPRC	OMIM:220111
HP:0001679	Abnormal aortic morphology	8216	LZTR1	OMIM:616564
HP:0001679	Abnormal aortic morphology	8216	LZTR1	OMIM:605275
HP:0001679	Abnormal aortic morphology	123606	NIPA1	ORPHA:261183
HP:0001679	Abnormal aortic morphology	7283	TUBG1	ORPHA:261183
HP:0001679	Abnormal aortic morphology	81614	NIPA2	ORPHA:261183
HP:0001679	Abnormal aortic morphology	2187	FANCB	OMIM:300514
HP:0001679	Abnormal aortic morphology	1024	CDK8	OMIM:618748
HP:0001679	Abnormal aortic morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001679	Abnormal aortic morphology	132	ADK	OMIM:614300
HP:0001679	Abnormal aortic morphology	79813	EHMT1	ORPHA:96147
HP:0001679	Abnormal aortic morphology	6888	TALDO1	ORPHA:101028
HP:0001679	Abnormal aortic morphology	6888	TALDO1	OMIM:606003
HP:0001679	Abnormal aortic morphology	7707	ZNF148	OMIM:617260
HP:0001679	Abnormal aortic morphology	10847	SRCAP	OMIM:136140
HP:0001679	Abnormal aortic morphology	10847	SRCAP	ORPHA:2044
HP:0001679	Abnormal aortic morphology	89910	UBE3B	OMIM:244450
HP:0001679	Abnormal aortic morphology	8085	KMT2D	ORPHA:2322
HP:0001679	Abnormal aortic morphology	8085	KMT2D	OMIM:147920
HP:0001679	Abnormal aortic morphology	7403	KDM6A	ORPHA:2322
HP:0001679	Abnormal aortic morphology	7403	KDM6A	OMIM:300867
HP:0001679	Abnormal aortic morphology	7403	KDM6A	OMIM:147920
HP:0001679	Abnormal aortic morphology	5053	PAH	ORPHA:2209
HP:0001679	Abnormal aortic morphology	10735	STAG2	OMIM:301022
HP:0001679	Abnormal aortic morphology	1956	EGFR	OMIM:616069
HP:0001679	Abnormal aortic morphology	146862	UNC45B	OMIM:619178
HP:0001679	Abnormal aortic morphology	1108	CHD4	OMIM:617159
HP:0001679	Abnormal aortic morphology	7026	NR2F2	OMIM:615779
HP:0001679	Abnormal aortic morphology	51057	WDPCP	OMIM:217085
HP:0001679	Abnormal aortic morphology	1000	CDH2	OMIM:618929
HP:0001679	Abnormal aortic morphology	4313	MMP2	ORPHA:371428
HP:0001679	Abnormal aortic morphology	4323	MMP14	ORPHA:371428
HP:0001679	Abnormal aortic morphology	1717	DHCR7	OMIM:270400
HP:0001679	Abnormal aortic morphology	9839	ZEB2	ORPHA:261552
HP:0001679	Abnormal aortic morphology	9839	ZEB2	ORPHA:261537
HP:0001679	Abnormal aortic morphology	9184	BUB3	ORPHA:1052
HP:0001679	Abnormal aortic morphology	699	BUB1	ORPHA:1052
HP:0001679	Abnormal aortic morphology	9702	CEP57	ORPHA:1052
HP:0001679	Abnormal aortic morphology	9702	CEP57	OMIM:614114
HP:0001679	Abnormal aortic morphology	9319	TRIP13	ORPHA:1052
HP:0001679	Abnormal aortic morphology	701	BUB1B	ORPHA:1052
HP:0001679	Abnormal aortic morphology	4212	MEIS2	OMIM:600987
HP:0001679	Abnormal aortic morphology	1822	ATN1	OMIM:618494
HP:0001679	Abnormal aortic morphology	139285	AMER1	ORPHA:2780
HP:0001679	Abnormal aortic morphology	55644	OSGEP	OMIM:617729
HP:0001679	Abnormal aortic morphology	5826	ABCD4	OMIM:614857
HP:0001679	Abnormal aortic morphology	8883	NAE1	OMIM:620210
HP:0001679	Abnormal aortic morphology	2313	FLI1	ORPHA:2308
HP:0001679	Abnormal aortic morphology	4763	NF1	ORPHA:97685
HP:0001679	Abnormal aortic morphology	10664	CTCF	ORPHA:363611
HP:0001679	Abnormal aortic morphology	10664	CTCF	OMIM:615502
HP:0001679	Abnormal aortic morphology	65250	CPLANE1	OMIM:277170
HP:0001679	Abnormal aortic morphology	4893	NRAS	OMIM:163200
HP:0001679	Abnormal aortic morphology	3265	HRAS	OMIM:163200
HP:0001679	Abnormal aortic morphology	83475	DOHH	OMIM:620066
HP:0001679	Abnormal aortic morphology	11198	SUPT16H	OMIM:619480
HP:0001679	Abnormal aortic morphology	28514	DLL1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2253	FGF8	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6496	SIX3	ORPHA:280195
HP:0001679	Abnormal aortic morphology	7050	TGIF1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6469	SHH	ORPHA:280195
HP:0001679	Abnormal aortic morphology	7546	ZIC2	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6491	STIL	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2619	GAS1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	84976	DISP1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2736	GLI2	ORPHA:280195
HP:0001679	Abnormal aortic morphology	8928	FOXH1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	5727	PTCH1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	50937	CDON	ORPHA:280195
HP:0001679	Abnormal aortic morphology	57057	TBX20	OMIM:611363
HP:0001679	Abnormal aortic morphology	182	JAG1	OMIM:118450
HP:0001679	Abnormal aortic morphology	4625	MYH7	OMIM:613426
HP:0001679	Abnormal aortic morphology	51322	WAC	ORPHA:284169
HP:0001679	Abnormal aortic morphology	84231	TRAF7	OMIM:618164
HP:0001679	Abnormal aortic morphology	5832	ALDH18A1	ORPHA:90348
HP:0001679	Abnormal aortic morphology	5236	PGM1	OMIM:614921
HP:0001679	Abnormal aortic morphology	9939	RBM8A	OMIM:274000
HP:0001679	Abnormal aortic morphology	6223	RPS19	OMIM:105650
HP:0001679	Abnormal aortic morphology	6223	RPS19	ORPHA:124
HP:0001679	Abnormal aortic morphology	6135	RPL11	ORPHA:124
HP:0001679	Abnormal aortic morphology	6138	RPL15	ORPHA:124
HP:0001679	Abnormal aortic morphology	6229	RPS24	ORPHA:124
HP:0001679	Abnormal aortic morphology	6125	RPL5	ORPHA:124
HP:0001679	Abnormal aortic morphology	6204	RPS10	ORPHA:124
HP:0001679	Abnormal aortic morphology	6224	RPS20	ORPHA:124
HP:0001679	Abnormal aortic morphology	6165	RPL35A	ORPHA:124
HP:0001679	Abnormal aortic morphology	2623	GATA1	ORPHA:124
HP:0001679	Abnormal aortic morphology	6232	RPS27	ORPHA:124
HP:0001679	Abnormal aortic morphology	6231	RPS26	ORPHA:124
HP:0001679	Abnormal aortic morphology	11224	RPL35	ORPHA:124
HP:0001679	Abnormal aortic morphology	6160	RPL31	ORPHA:124
HP:0001679	Abnormal aortic morphology	6218	RPS17	ORPHA:124
HP:0001679	Abnormal aortic morphology	6201	RPS7	ORPHA:124
HP:0001679	Abnormal aortic morphology	6155	RPL27	ORPHA:124
HP:0001679	Abnormal aortic morphology	6154	RPL26	ORPHA:124
HP:0001679	Abnormal aortic morphology	6210	RPS15A	ORPHA:124
HP:0001679	Abnormal aortic morphology	90121	TSR2	ORPHA:124
HP:0001679	Abnormal aortic morphology	6141	RPL18	ORPHA:124
HP:0001679	Abnormal aortic morphology	6235	RPS29	ORPHA:124
HP:0001679	Abnormal aortic morphology	6234	RPS28	ORPHA:124
HP:0001679	Abnormal aortic morphology	51816	ADA2	ORPHA:124
HP:0001679	Abnormal aortic morphology	6595	SMARCA2	OMIM:601358
HP:0001679	Abnormal aortic morphology	51626	DYNC2LI1	OMIM:617088
HP:0001679	Abnormal aortic morphology	8295	TRRAP	OMIM:618454
HP:0001679	Abnormal aortic morphology	54903	MKS1	OMIM:249000
HP:0001679	Abnormal aortic morphology	6736	SRY	ORPHA:1772
HP:0001679	Abnormal aortic morphology	6655	SOS2	OMIM:616559
HP:0001679	Abnormal aortic morphology	9894	TELO2	OMIM:616954
HP:0001679	Abnormal aortic morphology	5604	MAP2K1	OMIM:163950
HP:0001679	Abnormal aortic morphology	5781	PTPN11	OMIM:163950
HP:0001679	Abnormal aortic morphology	673	BRAF	OMIM:163950
HP:0001679	Abnormal aortic morphology	10526	IPO8	OMIM:619472
HP:0001679	Abnormal aortic morphology	1161	ERCC8	ORPHA:90324
HP:0001679	Abnormal aortic morphology	2074	ERCC6	ORPHA:90324
HP:0001679	Abnormal aortic morphology	490	ATP2B1	OMIM:619910
HP:0001679	Abnormal aortic morphology	8854	ALDH1A2	OMIM:620025
HP:0001679	Abnormal aortic morphology	4629	MYH11	ORPHA:229
HP:0001679	Abnormal aortic morphology	4629	MYH11	ORPHA:91387
HP:0001679	Abnormal aortic morphology	81031	SLC2A10	ORPHA:3342
HP:0001679	Abnormal aortic morphology	81031	SLC2A10	OMIM:208050
HP:0001679	Abnormal aortic morphology	1788	DNMT3A	ORPHA:404443
HP:0001679	Abnormal aortic morphology	2200	FBN1	ORPHA:284979
HP:0001679	Abnormal aortic morphology	2200	FBN1	OMIM:154700
HP:0001679	Abnormal aortic morphology	2200	FBN1	OMIM:616914
HP:0001679	Abnormal aortic morphology	2200	FBN1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	27125	AFF4	ORPHA:444077
HP:0001679	Abnormal aortic morphology	1278	COL1A2	ORPHA:230851
HP:0001679	Abnormal aortic morphology	1289	COL5A1	OMIM:130000
HP:0001679	Abnormal aortic morphology	1289	COL5A1	ORPHA:287
HP:0001679	Abnormal aortic morphology	2201	FBN2	OMIM:121050
HP:0001679	Abnormal aortic morphology	30008	EFEMP2	OMIM:614437
HP:0001679	Abnormal aortic morphology	51726	DNAJB11	ORPHA:730
HP:0001679	Abnormal aortic morphology	23193	GANAB	ORPHA:730
HP:0001679	Abnormal aortic morphology	5310	PKD1	ORPHA:730
HP:0001679	Abnormal aortic morphology	5311	PKD2	ORPHA:730
HP:0001679	Abnormal aortic morphology	29880	ALG5	ORPHA:730
HP:0001679	Abnormal aortic morphology	9742	IFT140	ORPHA:730
HP:0001679	Abnormal aortic morphology	79796	ALG9	ORPHA:730
HP:0001679	Abnormal aortic morphology	80114	BICC1	ORPHA:730
HP:0001679	Abnormal aortic morphology	126792	B3GALT6	ORPHA:536467
HP:0001679	Abnormal aortic morphology	126792	B3GALT6	OMIM:615349
HP:0001679	Abnormal aortic morphology	3190	HNRNPK	OMIM:616580
HP:0001679	Abnormal aortic morphology	2332	FMR1	ORPHA:449291
HP:0001679	Abnormal aortic morphology	84665	MYPN	ORPHA:171881
HP:0001679	Abnormal aortic morphology	7169	TPM2	ORPHA:171881
HP:0001679	Abnormal aortic morphology	7170	TPM3	ORPHA:171881
HP:0001679	Abnormal aortic morphology	165	AEBP1	OMIM:618000
HP:0001679	Abnormal aortic morphology	165	AEBP1	ORPHA:536532
HP:0001679	Abnormal aortic morphology	3756	KCNH1	OMIM:135500
HP:0001679	Abnormal aortic morphology	284058	KANSL1	OMIM:610443
HP:0001679	Abnormal aortic morphology	7048	TGFBR2	OMIM:610168
HP:0001679	Abnormal aortic morphology	7048	TGFBR2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	5238	PGM3	OMIM:615816
HP:0001679	Abnormal aortic morphology	1277	COL1A1	ORPHA:287
HP:0001679	Abnormal aortic morphology	1290	COL5A2	ORPHA:287
HP:0001679	Abnormal aortic morphology	9469	CHST3	OMIM:245600
HP:0001679	Abnormal aortic morphology	26229	B3GAT3	OMIM:245600
HP:0001679	Abnormal aortic morphology	4883	NPR3	OMIM:619543
HP:0001679	Abnormal aortic morphology	633	BGN	OMIM:300989
HP:0001679	Abnormal aortic morphology	79576	NKAP	OMIM:301039
HP:0001679	Abnormal aortic morphology	4015	LOX	OMIM:617168
HP:0001679	Abnormal aortic morphology	4015	LOX	ORPHA:91387
HP:0001679	Abnormal aortic morphology	833	CARS1	OMIM:618891
HP:0001679	Abnormal aortic morphology	7043	TGFB3	OMIM:615582
HP:0001679	Abnormal aortic morphology	7043	TGFB3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	54538	ROBO4	OMIM:618496
HP:0001679	Abnormal aortic morphology	25	ABL1	OMIM:617602
HP:0001679	Abnormal aortic morphology	79875	THSD4	OMIM:619825
HP:0001679	Abnormal aortic morphology	4281	MID1	ORPHA:2745
HP:0001679	Abnormal aortic morphology	23384	SPECC1L	OMIM:145420
HP:0001679	Abnormal aortic morphology	7046	TGFBR1	OMIM:609192
HP:0001679	Abnormal aortic morphology	7046	TGFBR1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	7042	TGFB2	OMIM:614816
HP:0001679	Abnormal aortic morphology	7042	TGFB2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4087	SMAD2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4088	SMAD3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4089	SMAD4	ORPHA:91387
HP:0001679	Abnormal aortic morphology	59	ACTA2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	5592	PRKG1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	2301	FOXE3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4144	MAT2A	ORPHA:91387
HP:0001679	Abnormal aortic morphology	23493	HEY2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	8076	MFAP5	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4638	MYLK	ORPHA:91387
HP:0001679	Abnormal aortic morphology	2006	ELN	ORPHA:91387
HP:0001679	Abnormal aortic morphology	55901	THSD1	ORPHA:231160
HP:0001679	Abnormal aortic morphology	7049	TGFBR3	ORPHA:231160
HP:0001679	Abnormal aortic morphology	1281	COL3A1	ORPHA:231160
HP:0001679	Abnormal aortic morphology	83854	ANGPTL6	ORPHA:231160
HP:0001679	Abnormal aortic morphology	2022	ENG	ORPHA:231160
HP:0001679	Abnormal aortic morphology	10743	RAI1	ORPHA:477817
HP:0001679	Abnormal aortic morphology	6804	STX1A	ORPHA:904
HP:0001679	Abnormal aortic morphology	7461	CLIP2	ORPHA:904
HP:0001679	Abnormal aortic morphology	84277	DNAJC30	ORPHA:904
HP:0001679	Abnormal aortic morphology	8468	FKBP6	ORPHA:904
HP:0001679	Abnormal aortic morphology	5982	RFC2	ORPHA:904
HP:0001679	Abnormal aortic morphology	2969	GTF2I	ORPHA:904
HP:0001679	Abnormal aortic morphology	3984	LIMK1	ORPHA:904
HP:0001679	Abnormal aortic morphology	9569	GTF2IRD1	ORPHA:904
HP:0001679	Abnormal aortic morphology	155382	VPS37D	ORPHA:904
HP:0001679	Abnormal aortic morphology	155368	METTL27	ORPHA:904
HP:0001679	Abnormal aortic morphology	114049	BUD23	ORPHA:904
HP:0001679	Abnormal aortic morphology	7458	EIF4H	ORPHA:904
HP:0001679	Abnormal aortic morphology	84163	GTF2IRD2	ORPHA:904
HP:0001679	Abnormal aortic morphology	9275	BCL7B	ORPHA:904
HP:0001679	Abnormal aortic morphology	26608	TBL2	ORPHA:904
HP:0001679	Abnormal aortic morphology	653361	NCF1	ORPHA:904
HP:0001679	Abnormal aortic morphology	135886	TMEM270	ORPHA:904
HP:0001679	Abnormal aortic morphology	51085	MLXIPL	ORPHA:904
HP:0001679	Abnormal aortic morphology	9031	BAZ1B	ORPHA:904
HP:0001679	Abnormal aortic morphology	91754	NEK9	OMIM:617022
HP:0001679	Abnormal aortic morphology	23395	LARS2	OMIM:617021
HP:0001679	Abnormal aortic morphology	1349	COX7B	OMIM:309801
HP:0001679	Abnormal aortic morphology	3052	HCCS	OMIM:309801
HP:0001679	Abnormal aortic morphology	54539	NDUFB11	OMIM:309801
HP:0001679	Abnormal aortic morphology	2263	FGFR2	OMIM:101200
HP:0001679	Abnormal aortic morphology	23483	TGDS	OMIM:616145
HP:0001679	Abnormal aortic morphology	78987	CRELD1	OMIM:606217
HP:0001679	Abnormal aortic morphology	64220	STRA6	OMIM:601186
HP:0001679	Abnormal aortic morphology	5351	PLOD1	ORPHA:1900
HP:0001679	Abnormal aortic morphology	375	ARF1	ORPHA:98892
HP:0001679	Abnormal aortic morphology	4131	MAP1B	ORPHA:98892
HP:0001679	Abnormal aortic morphology	23327	NEDD4L	ORPHA:98892
HP:0001679	Abnormal aortic morphology	160418	TMTC3	ORPHA:98892
HP:0001679	Abnormal aortic morphology	10564	ARFGEF2	ORPHA:98892
HP:0001679	Abnormal aortic morphology	55780	ERMARD	ORPHA:98892
HP:0001679	Abnormal aortic morphology	54453	RIN2	OMIM:613075
HP:0001679	Abnormal aortic morphology	54453	RIN2	ORPHA:217335
HP:0001679	Abnormal aortic morphology	23118	TAB2	OMIM:614980
HP:0001679	Abnormal aortic morphology	6711	SPTBN1	OMIM:619475
HP:0001679	Abnormal aortic morphology	29957	SLC25A24	OMIM:612289
HP:0001679	Abnormal aortic morphology	3458	IFNG	ORPHA:805
HP:0001679	Abnormal aortic morphology	7248	TSC1	ORPHA:805
HP:0001679	Abnormal aortic morphology	7249	TSC2	ORPHA:805
HP:0001679	Abnormal aortic morphology	7139	TNNT2	OMIM:612422
HP:0001679	Abnormal aortic morphology	3081	HGD	OMIM:203500
HP:0001679	Abnormal aortic morphology	5728	PTEN	ORPHA:109
HP:0001679	Abnormal aortic morphology	4621	MYH3	ORPHA:2990
HP:0001679	Abnormal aortic morphology	1146	CHRNG	ORPHA:2990
HP:0001679	Abnormal aortic morphology	64127	NOD2	ORPHA:90340
HP:0001679	Abnormal aortic morphology	64324	NSD1	ORPHA:821
HP:0001679	Abnormal aortic morphology	29072	SETD2	ORPHA:821
HP:0001679	Abnormal aortic morphology	10297	APC2	ORPHA:821
HP:0001679	Abnormal aortic morphology	51611	DPH5	OMIM:620070
HP:0001679	Abnormal aortic morphology	2317	FLNB	OMIM:150250
HP:0001679	Abnormal aortic morphology	4854	NOTCH3	OMIM:130720
HP:0001679	Abnormal aortic morphology	613	BCR	ORPHA:261330
HP:0001679	Abnormal aortic morphology	1399	CRKL	ORPHA:261330
HP:0001679	Abnormal aortic morphology	5594	MAPK1	ORPHA:261330
HP:0001679	Abnormal aortic morphology	113246	C12orf57	OMIM:218340
HP:0001679	Abnormal aortic morphology	4851	NOTCH1	ORPHA:402075
HP:0001679	Abnormal aortic morphology	1482	NKX2-5	ORPHA:402075
HP:0001679	Abnormal aortic morphology	140628	GATA5	ORPHA:402075
HP:0001679	Abnormal aortic morphology	3949	LDLR	ORPHA:391665
HP:0001679	Abnormal aortic morphology	255738	PCSK9	ORPHA:391665
HP:0001679	Abnormal aortic morphology	26119	LDLRAP1	ORPHA:391665
HP:0001679	Abnormal aortic morphology	338	APOB	ORPHA:391665
HP:0001679	Abnormal aortic morphology	64240	ABCG5	ORPHA:391665
HP:0001679	Abnormal aortic morphology	64241	ABCG8	ORPHA:391665
HP:0001679	Abnormal aortic morphology	2629	GBA1	OMIM:231005
HP:0001679	Abnormal aortic morphology	2629	GBA1	ORPHA:2072
HP:0001679	Abnormal aortic morphology	4091	SMAD6	OMIM:614823
HP:0001679	Abnormal aortic morphology	10568	SLC34A2	ORPHA:60025
HP:0001679	Abnormal aortic morphology	10535	RNASEH2A	ORPHA:51
HP:0001679	Abnormal aortic morphology	84153	RNASEH2C	ORPHA:51
HP:0001679	Abnormal aortic morphology	25939	SAMHD1	ORPHA:51
HP:0001679	Abnormal aortic morphology	79621	RNASEH2B	ORPHA:51
HP:0001679	Abnormal aortic morphology	103	ADAR	ORPHA:51
HP:0001679	Abnormal aortic morphology	11277	TREX1	ORPHA:51
HP:0001679	Abnormal aortic morphology	100147744	RNU7-1	ORPHA:51
HP:0001679	Abnormal aortic morphology	134353	LSM11	ORPHA:51
HP:0001679	Abnormal aortic morphology	64135	IFIH1	ORPHA:51
HP:0001679	Abnormal aortic morphology	5167	ENPP1	ORPHA:51608
HP:0001679	Abnormal aortic morphology	368	ABCC6	ORPHA:51608
HP:0001679	Abnormal aortic morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001679	Abnormal aortic morphology	9968	MED12	OMIM:309520
HP:0001679	Abnormal aortic morphology	3593	IL12B	ORPHA:3287
HP:0001679	Abnormal aortic morphology	3106	HLA-B	ORPHA:3287
HP:0001679	Abnormal aortic morphology	6945	MLX	ORPHA:3287
HP:0001679	Abnormal aortic morphology	171019	ADAMTS19	OMIM:620067
HP:0001679	Abnormal aortic morphology	4838	NODAL	OMIM:270100
HP:0001679	Abnormal aortic morphology	10516	FBLN5	OMIM:219100
HP:0001679	Abnormal aortic morphology	2972	BRF1	ORPHA:444072
HP:0001679	Abnormal aortic morphology	2702	GJA5	OMIM:612474
HP:0001679	Abnormal aortic morphology	2703	GJA8	OMIM:612474
HP:0001679	Abnormal aortic morphology	523	ATP6V1A	OMIM:617403
HP:0001679	Abnormal aortic morphology	26191	PTPN22	ORPHA:397
HP:0001679	Abnormal aortic morphology	3123	HLA-DRB1	ORPHA:397
HP:0001679	Abnormal aortic morphology	8974	P4HA2	ORPHA:397
HP:0001679	Abnormal aortic morphology	286053	NSMCE2	OMIM:617253
HP:0001679	Abnormal aortic morphology	5590	PRKCZ	ORPHA:1606
HP:0001679	Abnormal aortic morphology	2563	GABRD	ORPHA:1606
HP:0001679	Abnormal aortic morphology	23013	SPEN	ORPHA:1606
HP:0001679	Abnormal aortic morphology	8510	MMP23B	ORPHA:1606
HP:0001679	Abnormal aortic morphology	7798	LUZP1	ORPHA:1606
HP:0001679	Abnormal aortic morphology	6497	SKI	ORPHA:1606
HP:0001679	Abnormal aortic morphology	10630	PDPN	ORPHA:1606
HP:0001679	Abnormal aortic morphology	3339	HSPG2	ORPHA:1606
HP:0001679	Abnormal aortic morphology	10277	UBE4B	ORPHA:1606
HP:0001679	Abnormal aortic morphology	8514	KCNAB2	ORPHA:1606
HP:0001679	Abnormal aortic morphology	473	RERE	ORPHA:1606
HP:0001679	Abnormal aortic morphology	63976	PRDM16	ORPHA:1606
HP:0001679	Abnormal aortic morphology	54897	CASZ1	ORPHA:1606
HP:0001679	Abnormal aortic morphology	2737	GLI3	OMIM:146510
HP:0001679	Abnormal aortic morphology	5745	PTH1R	OMIM:215045
HP:0001679	Abnormal aortic morphology	5296	PIK3R2	OMIM:603387
HP:0001679	Abnormal aortic morphology	5337	PLD1	OMIM:212093
HP:0001679	Abnormal aortic morphology	2627	GATA6	OMIM:600001
HP:0001679	Abnormal aortic morphology	2627	GATA6	ORPHA:2255
HP:0001679	Abnormal aortic morphology	745	MYRF	OMIM:618280
HP:0001679	Abnormal aortic morphology	129563	DIS3L2	OMIM:267000
HP:0001679	Abnormal aortic morphology	2294	FOXF1	OMIM:265380
HP:0001679	Abnormal aortic morphology	6899	TBX1	OMIM:188400
HP:0001679	Abnormal aortic morphology	6899	TBX1	OMIM:192430
HP:0001679	Abnormal aortic morphology	6899	TBX1	ORPHA:1727
HP:0001679	Abnormal aortic morphology	4613	MYCN	ORPHA:391641
HP:0001679	Abnormal aortic morphology	4613	MYCN	OMIM:164280
HP:0001679	Abnormal aortic morphology	137814	NKX2-6	ORPHA:3384
HP:0001679	Abnormal aortic morphology	23129	PLXND1	ORPHA:3384
HP:0001679	Abnormal aortic morphology	8802	SUCLG1	ORPHA:17
HP:0001679	Abnormal aortic morphology	56006	SMG9	OMIM:616920
HP:0001679	Abnormal aortic morphology	54916	TMEM260	OMIM:617478
HP:0001679	Abnormal aortic morphology	2260	FGFR1	ORPHA:2396
HP:0001679	Abnormal aortic morphology	3845	KRAS	ORPHA:2396
HP:0001679	Abnormal aortic morphology	9993	DGCR2	OMIM:192430
HP:0001679	Abnormal aortic morphology	8220	ESS2	OMIM:192430
HP:0001679	Abnormal aortic morphology	8214	DGCR6	OMIM:192430
HP:0001679	Abnormal aortic morphology	54487	DGCR8	OMIM:192430
HP:0001679	Abnormal aortic morphology	118856	MMP21	OMIM:616749
HP:0001679	Abnormal aortic morphology	55636	CHD7	ORPHA:138
HP:0001679	Abnormal aortic morphology	9723	SEMA3E	ORPHA:138
HP:0001679	Abnormal aortic morphology	2316	FLNA	OMIM:304120
HP:0001679	Abnormal aortic morphology	7490	WT1	OMIM:608978
HP:0001679	Abnormal aortic morphology	80232	WDR26	ORPHA:513456
HP:0001679	Abnormal aortic morphology	80232	WDR26	OMIM:617616
HP:0001679	Abnormal aortic morphology	1770	DNAH9	OMIM:618300
HP:0001679	Abnormal aortic morphology	79989	IFT56	OMIM:619534
HP:0001679	Abnormal aortic morphology	25981	DNAH1	OMIM:617577
HP:0001679	Abnormal aortic morphology	93	ACVR2B	OMIM:613751
HP:0001679	Abnormal aortic morphology	220136	CFAP53	OMIM:614779
HP:0001679	Abnormal aortic morphology	10992	SF3B2	OMIM:164210
HP:0001679	Abnormal aortic morphology	23556	PIGN	ORPHA:2059
HP:0001679	Abnormal aortic morphology	55784	MCTP2	ORPHA:1596
HP:0001679	Abnormal aortic morphology	388015	RTL1	ORPHA:96334
HP:0001679	Abnormal aortic morphology	8788	DLK1	ORPHA:96334
HP:0001679	Abnormal aortic morphology	55384	MEG3	ORPHA:96334
HP:0001679	Abnormal aortic morphology	1312	COMT	ORPHA:567
HP:0001679	Abnormal aortic morphology	221037	JMJD1C	ORPHA:567
HP:0001679	Abnormal aortic morphology	2812	GP1BB	ORPHA:567
HP:0001679	Abnormal aortic morphology	6239	RREB1	ORPHA:567
HP:0001679	Abnormal aortic morphology	7290	HIRA	ORPHA:567
HP:0001679	Abnormal aortic morphology	9632	SEC24C	ORPHA:567
HP:0001679	Abnormal aortic morphology	7353	UFD1	ORPHA:567
HP:0001679	Abnormal aortic morphology	421	ARVCF	ORPHA:567
HP:0001679	Abnormal aortic morphology	7547	ZIC3	OMIM:306955
HP:0001679	Abnormal aortic morphology	22827	PUF60	ORPHA:508488
HP:0001679	Abnormal aortic morphology	54880	BCOR	OMIM:300166
HP:0001679	Abnormal aortic morphology	6885	MAP3K7	OMIM:157800
HP:0001679	Abnormal aortic morphology	2697	GJA1	ORPHA:2248
HP:0001679	Abnormal aortic morphology	5500	PPP1CB	OMIM:617506
HP:0001679	Abnormal aortic morphology	2783	GNB2	OMIM:619503
HP:0001679	Abnormal aortic morphology	100128908	CIROP	OMIM:619702
HP:0001679	Abnormal aortic morphology	5518	PPP2R1A	ORPHA:457284
HP:0001679	Abnormal aortic morphology	10195	ALG3	ORPHA:79321
HP:0001679	Abnormal aortic morphology	4000	LMNA	ORPHA:363618
HP:0001679	Abnormal aortic morphology	348	APOE	ORPHA:412
HP:0001679	Abnormal aortic morphology	1581	CYP7A1	ORPHA:209902
HP:0001679	Abnormal aortic morphology	11117	EMILIN1	OMIM:620080
HP:0001679	Abnormal aortic morphology	55033	FKBP14	OMIM:614557
HP:0001679	Abnormal aortic morphology	7528	YY1	OMIM:617557
HP:0001679	Abnormal aortic morphology	168507	PKD1L1	OMIM:617205
HP:0001679	Abnormal aortic morphology	2324	FLT4	OMIM:618780
HP:0001679	Abnormal aortic morphology	2657	GDF1	OMIM:208530
HP:0001679	Abnormal aortic morphology	1387	CREBBP	OMIM:180849
HP:0001679	Abnormal aortic morphology	2033	EP300	OMIM:180849
HP:0008838	Stippled calcification proximal humeral epiphyses	8443	GNPAT	OMIM:222765
HP:0008835	Multicentric femoral head ossification	54808	DYM	OMIM:607326
HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	6915	TBXA2R	OMIM:614009
HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0011895	Anemia due to reduced life span of red cells	2811	GP1BA	OMIM:153670
HP:0011895	Anemia due to reduced life span of red cells	2235	FECH	OMIM:177000
HP:0011895	Anemia due to reduced life span of red cells	6521	SLC4A1	OMIM:185020
HP:0011895	Anemia due to reduced life span of red cells	6521	SLC4A1	OMIM:612653
HP:0011895	Anemia due to reduced life span of red cells	6521	SLC4A1	OMIM:166900
HP:0011895	Anemia due to reduced life span of red cells	6521	SLC4A1	OMIM:611590
HP:0011895	Anemia due to reduced life span of red cells	6521	SLC4A1	ORPHA:3202
HP:0011895	Anemia due to reduced life span of red cells	3783	KCNN4	OMIM:616689
HP:0011895	Anemia due to reduced life span of red cells	3783	KCNN4	ORPHA:3202
HP:0011895	Anemia due to reduced life span of red cells	6513	SLC2A1	OMIM:612126
HP:0011895	Anemia due to reduced life span of red cells	6513	SLC2A1	OMIM:608885
HP:0011895	Anemia due to reduced life span of red cells	5238	PGM3	ORPHA:443811
HP:0011895	Anemia due to reduced life span of red cells	5238	PGM3	OMIM:615816
HP:0011895	Anemia due to reduced life span of red cells	959	CD40LG	OMIM:308230
HP:0011895	Anemia due to reduced life span of red cells	6708	SPTA1	OMIM:130600
HP:0011895	Anemia due to reduced life span of red cells	6708	SPTA1	ORPHA:288
HP:0011895	Anemia due to reduced life span of red cells	6708	SPTA1	OMIM:266140
HP:0011895	Anemia due to reduced life span of red cells	6708	SPTA1	OMIM:270970
HP:0011895	Anemia due to reduced life span of red cells	3162	HMOX1	OMIM:614034
HP:0011895	Anemia due to reduced life span of red cells	8526	DGKE	OMIM:615008
HP:0011895	Anemia due to reduced life span of red cells	2729	GCLC	OMIM:230450
HP:0011895	Anemia due to reduced life span of red cells	2729	GCLC	ORPHA:33574
HP:0011895	Anemia due to reduced life span of red cells	6005	RHAG	OMIM:185000
HP:0011895	Anemia due to reduced life span of red cells	6005	RHAG	OMIM:268150
HP:0011895	Anemia due to reduced life span of red cells	6005	RHAG	ORPHA:3203
HP:0011895	Anemia due to reduced life span of red cells	6005	RHAG	ORPHA:71275
HP:0011895	Anemia due to reduced life span of red cells	2937	GSS	OMIM:231900
HP:0011895	Anemia due to reduced life span of red cells	2937	GSS	OMIM:266130
HP:0011895	Anemia due to reduced life span of red cells	103	ADAR	OMIM:615010
HP:0011895	Anemia due to reduced life span of red cells	7128	TNFAIP3	OMIM:616744
HP:0011895	Anemia due to reduced life span of red cells	966	CD59	OMIM:612300
HP:0011895	Anemia due to reduced life span of red cells	7389	UROD	ORPHA:95159
HP:0011895	Anemia due to reduced life span of red cells	5277	PIGA	ORPHA:447
HP:0011895	Anemia due to reduced life span of red cells	2035	EPB41	ORPHA:288
HP:0011895	Anemia due to reduced life span of red cells	2035	EPB41	OMIM:611804
HP:0011895	Anemia due to reduced life span of red cells	2995	GYPC	ORPHA:288
HP:0011895	Anemia due to reduced life span of red cells	2623	GATA1	OMIM:314050
HP:0011895	Anemia due to reduced life span of red cells	2623	GATA1	OMIM:301083
HP:0011895	Anemia due to reduced life span of red cells	2623	GATA1	ORPHA:79277
HP:0011895	Anemia due to reduced life span of red cells	1371	CPOX	OMIM:618892
HP:0011895	Anemia due to reduced life span of red cells	79415	CYBC1	OMIM:618935
HP:0011895	Anemia due to reduced life span of red cells	10058	ABCB6	OMIM:609153
HP:0011895	Anemia due to reduced life span of red cells	23495	TNFRSF13B	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	4791	NFKB2	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	115650	TNFRSF13C	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	1380	CR2	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	8742	TNFSF12	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	930	CD19	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	29851	ICOS	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	931	MS4A1	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	975	CD81	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	359948	IRF2BP2	ORPHA:1572
HP:0011895	Anemia due to reduced life span of red cells	2783	GNB2	OMIM:619503
HP:0011895	Anemia due to reduced life span of red cells	5230	PGK1	ORPHA:713
HP:0011895	Anemia due to reduced life span of red cells	5230	PGK1	OMIM:300653
HP:0011895	Anemia due to reduced life span of red cells	56244	BTNL2	ORPHA:797
HP:0011895	Anemia due to reduced life span of red cells	3123	HLA-DRB1	ORPHA:797
HP:0011895	Anemia due to reduced life span of red cells	51604	PIGT	OMIM:615399
HP:0011895	Anemia due to reduced life span of red cells	2592	GALT	OMIM:230400
HP:0011895	Anemia due to reduced life span of red cells	7456	WIPF1	ORPHA:906
HP:0011895	Anemia due to reduced life span of red cells	1282	COL4A1	OMIM:175780
HP:0011895	Anemia due to reduced life span of red cells	286	ANK1	ORPHA:251066
HP:0011895	Anemia due to reduced life span of red cells	286	ANK1	OMIM:182900
HP:0011895	Anemia due to reduced life span of red cells	286410	ATP11C	OMIM:301015
HP:0011895	Anemia due to reduced life span of red cells	3931	LCAT	OMIM:245900
HP:0011895	Anemia due to reduced life span of red cells	100147744	RNU7-1	OMIM:619487
HP:0011895	Anemia due to reduced life span of red cells	3845	KRAS	OMIM:614470
HP:0011895	Anemia due to reduced life span of red cells	4893	NRAS	OMIM:614470
HP:0011895	Anemia due to reduced life span of red cells	2038	EPB42	OMIM:612690
HP:0011895	Anemia due to reduced life span of red cells	64135	IFIH1	OMIM:615846
HP:0011895	Anemia due to reduced life span of red cells	540	ATP7B	OMIM:277900
HP:0011895	Anemia due to reduced life span of red cells	7390	UROS	OMIM:263700
HP:0011895	Anemia due to reduced life span of red cells	7390	UROS	ORPHA:79277
HP:0011895	Anemia due to reduced life span of red cells	10661	KLF1	OMIM:613673
HP:0011895	Anemia due to reduced life span of red cells	210	ALAD	OMIM:612740
HP:0011895	Anemia due to reduced life span of red cells	5213	PFKM	OMIM:232800
HP:0011895	Anemia due to reduced life span of red cells	226	ALDOA	ORPHA:57
HP:0011895	Anemia due to reduced life span of red cells	51251	NT5C3A	OMIM:266120
HP:0011895	Anemia due to reduced life span of red cells	146059	CDAN1	OMIM:224120
HP:0011895	Anemia due to reduced life span of red cells	2212	FCGR2A	OMIM:152700
HP:0011895	Anemia due to reduced life span of red cells	2213	FCGR2B	OMIM:152700
HP:0011895	Anemia due to reduced life span of red cells	26191	PTPN22	OMIM:152700
HP:0011895	Anemia due to reduced life span of red cells	11277	TREX1	OMIM:152700
HP:0011895	Anemia due to reduced life span of red cells	1773	DNASE1	OMIM:152700
HP:0011895	Anemia due to reduced life span of red cells	203	AK1	OMIM:612631
HP:0011895	Anemia due to reduced life span of red cells	6006	RHCE	ORPHA:71275
HP:0011895	Anemia due to reduced life span of red cells	6007	RHD	ORPHA:71275
HP:0011895	Anemia due to reduced life span of red cells	8085	KMT2D	OMIM:147920
HP:0011895	Anemia due to reduced life span of red cells	7403	KDM6A	OMIM:147920
HP:0011895	Anemia due to reduced life span of red cells	355	FAS	ORPHA:3261
HP:0011895	Anemia due to reduced life span of red cells	355	FAS	OMIM:601859
HP:0011895	Anemia due to reduced life span of red cells	356	FASLG	ORPHA:3261
HP:0011895	Anemia due to reduced life span of red cells	356	FASLG	OMIM:601859
HP:0011895	Anemia due to reduced life span of red cells	5580	PRKCD	ORPHA:3261
HP:0011895	Anemia due to reduced life span of red cells	5580	PRKCD	OMIM:615559
HP:0011895	Anemia due to reduced life span of red cells	843	CASP10	ORPHA:3261
HP:0011895	Anemia due to reduced life span of red cells	843	CASP10	OMIM:603909
HP:0011895	Anemia due to reduced life span of red cells	10125	RASGRP1	ORPHA:3261
HP:0011895	Anemia due to reduced life span of red cells	10125	RASGRP1	OMIM:618534
HP:0011895	Anemia due to reduced life span of red cells	6772	STAT1	ORPHA:391487
HP:0011895	Anemia due to reduced life span of red cells	6772	STAT1	OMIM:614162
HP:0011895	Anemia due to reduced life span of red cells	10043	TOM1	ORPHA:391487
HP:0011895	Anemia due to reduced life span of red cells	7454	WAS	OMIM:301000
HP:0011895	Anemia due to reduced life span of red cells	57217	TTC7A	OMIM:243150
HP:0011895	Anemia due to reduced life span of red cells	57217	TTC7A	ORPHA:436252
HP:0011895	Anemia due to reduced life span of red cells	3702	ITK	OMIM:613011
HP:0011895	Anemia due to reduced life span of red cells	4683	NBN	OMIM:251260
HP:0011895	Anemia due to reduced life span of red cells	4683	NBN	ORPHA:647
HP:0011895	Anemia due to reduced life span of red cells	6774	STAT3	OMIM:615952
HP:0011895	Anemia due to reduced life span of red cells	4860	PNP	OMIM:613179
HP:0011895	Anemia due to reduced life span of red cells	4860	PNP	ORPHA:760
HP:0011895	Anemia due to reduced life span of red cells	987	LRBA	OMIM:614700
HP:0011895	Anemia due to reduced life span of red cells	7174	TPP2	ORPHA:444463
HP:0011895	Anemia due to reduced life span of red cells	7174	TPP2	OMIM:619220
HP:0011895	Anemia due to reduced life span of red cells	22861	NLRP1	OMIM:617388
HP:0011895	Anemia due to reduced life span of red cells	4790	NFKB1	OMIM:616576
HP:0011895	Anemia due to reduced life span of red cells	5294	PIK3CG	OMIM:619802
HP:0011895	Anemia due to reduced life span of red cells	917	CD3G	OMIM:615607
HP:0011895	Anemia due to reduced life span of red cells	5896	RAG1	ORPHA:231154
HP:0011895	Anemia due to reduced life span of red cells	5896	RAG1	ORPHA:331206
HP:0011895	Anemia due to reduced life span of red cells	5994	RFXAP	ORPHA:572
HP:0011895	Anemia due to reduced life span of red cells	4261	CIITA	ORPHA:572
HP:0011895	Anemia due to reduced life span of red cells	5993	RFX5	ORPHA:572
HP:0011895	Anemia due to reduced life span of red cells	8625	RFXANK	ORPHA:572
HP:0011895	Anemia due to reduced life span of red cells	3937	LCP2	OMIM:619374
HP:0011895	Anemia due to reduced life span of red cells	50619	DEF6	OMIM:619573
HP:0011895	Anemia due to reduced life span of red cells	1493	CTLA4	OMIM:616100
HP:0011895	Anemia due to reduced life span of red cells	919	CD247	OMIM:610163
HP:0011895	Anemia due to reduced life span of red cells	100	ADA	OMIM:102700
HP:0011895	Anemia due to reduced life span of red cells	50943	FOXP3	ORPHA:37042
HP:0011895	Anemia due to reduced life span of red cells	5897	RAG2	ORPHA:331206
HP:0011895	Anemia due to reduced life span of red cells	6786	STIM1	OMIM:612783
HP:0011895	Anemia due to reduced life span of red cells	5297	PI4KA	ORPHA:436252
HP:0011895	Anemia due to reduced life span of red cells	51311	TLR8	OMIM:301078
HP:0011895	Anemia due to reduced life span of red cells	56984	PSMG2	OMIM:619183
HP:0011895	Anemia due to reduced life span of red cells	28755	TRAC	OMIM:615387
HP:0011895	Anemia due to reduced life span of red cells	3560	IL2RB	OMIM:618495
HP:0011895	Anemia due to reduced life span of red cells	7535	ZAP70	ORPHA:911
HP:0011895	Anemia due to reduced life span of red cells	3559	IL2RA	OMIM:606367
HP:0011895	Anemia due to reduced life span of red cells	54	ACP5	ORPHA:1855
HP:0011895	Anemia due to reduced life span of red cells	3098	HK1	OMIM:235700
HP:0011895	Anemia due to reduced life span of red cells	2821	GPI	OMIM:613470
HP:0011895	Anemia due to reduced life span of red cells	3075	CFH	ORPHA:244242
HP:0011895	Anemia due to reduced life span of red cells	3075	CFH	OMIM:235400
HP:0011895	Anemia due to reduced life span of red cells	3426	CFI	ORPHA:244242
HP:0011895	Anemia due to reduced life span of red cells	3426	CFI	OMIM:612923
HP:0011895	Anemia due to reduced life span of red cells	4179	CD46	ORPHA:244242
HP:0011895	Anemia due to reduced life span of red cells	4179	CD46	OMIM:612922
HP:0011895	Anemia due to reduced life span of red cells	101101692	HELLPAR	ORPHA:244242
HP:0011895	Anemia due to reduced life span of red cells	11093	ADAMTS13	OMIM:274150
HP:0011895	Anemia due to reduced life span of red cells	6775	STAT4	ORPHA:93552
HP:0011895	Anemia due to reduced life span of red cells	6696	SPP1	ORPHA:93552
HP:0011895	Anemia due to reduced life span of red cells	3654	IRAK1	ORPHA:93552
HP:0011895	Anemia due to reduced life span of red cells	629	CFB	OMIM:612924
HP:0011895	Anemia due to reduced life span of red cells	7056	THBD	OMIM:612926
HP:0011895	Anemia due to reduced life span of red cells	3078	CFHR1	OMIM:235400
HP:0011895	Anemia due to reduced life span of red cells	10878	CFHR3	OMIM:235400
HP:0011895	Anemia due to reduced life span of red cells	718	C3	OMIM:612925
HP:0011895	Anemia due to reduced life span of red cells	6573	SLC19A1	OMIM:601775
HP:0011895	Anemia due to reduced life span of red cells	8573	CASK	OMIM:300908
HP:0011895	Anemia due to reduced life span of red cells	2539	G6PD	OMIM:300908
HP:0011895	Anemia due to reduced life span of red cells	2936	GSR	OMIM:618660
HP:0011895	Anemia due to reduced life span of red cells	27040	LAT	OMIM:617514
HP:0011895	Anemia due to reduced life span of red cells	7293	TNFRSF4	OMIM:615593
HP:0011895	Anemia due to reduced life span of red cells	8651	SOCS1	OMIM:619375
HP:0011895	Anemia due to reduced life span of red cells	2876	GPX1	OMIM:614164
HP:0011895	Anemia due to reduced life span of red cells	5313	PKLR	OMIM:266200
HP:0011895	Anemia due to reduced life span of red cells	5313	PKLR	ORPHA:766
HP:0011895	Anemia due to reduced life span of red cells	7167	TPI1	OMIM:615512
HP:0011895	Anemia due to reduced life span of red cells	374354	NHLRC2	OMIM:618278
HP:0011895	Anemia due to reduced life span of red cells	6710	SPTB	OMIM:617948
HP:0011895	Anemia due to reduced life span of red cells	64241	ABCG8	OMIM:210250
HP:0011895	Anemia due to reduced life span of red cells	3040	HBA2	OMIM:140700
HP:0011895	Anemia due to reduced life span of red cells	3043	HBB	OMIM:140700
HP:0011895	Anemia due to reduced life span of red cells	3039	HBA1	OMIM:140700
HP:0011895	Anemia due to reduced life span of red cells	9780	PIEZO1	OMIM:194380
HP:0011895	Anemia due to reduced life span of red cells	53335	BCL11A	ORPHA:251380
HP:0011895	Anemia due to reduced life span of red cells	3047	HBG1	ORPHA:251380
HP:0011895	Anemia due to reduced life span of red cells	3048	HBG2	ORPHA:251380
HP:0011898	Abnormality of circulating fibrinogen	3689	ITGB2	OMIM:116920
HP:0011898	Abnormality of circulating fibrinogen	9056	SLC7A7	ORPHA:470
HP:0011898	Abnormality of circulating fibrinogen	201294	UNC13D	OMIM:608898
HP:0011898	Abnormality of circulating fibrinogen	201294	UNC13D	ORPHA:540
HP:0011898	Abnormality of circulating fibrinogen	9630	GNA14	ORPHA:1063
HP:0011898	Abnormality of circulating fibrinogen	55388	MCM10	OMIM:619313
HP:0011898	Abnormality of circulating fibrinogen	331	XIAP	OMIM:300635
HP:0011898	Abnormality of circulating fibrinogen	2038	EPB42	ORPHA:822
HP:0011898	Abnormality of circulating fibrinogen	6521	SLC4A1	ORPHA:822
HP:0011898	Abnormality of circulating fibrinogen	6710	SPTB	ORPHA:822
HP:0011898	Abnormality of circulating fibrinogen	6708	SPTA1	ORPHA:822
HP:0011898	Abnormality of circulating fibrinogen	286	ANK1	ORPHA:822
HP:0011898	Abnormality of circulating fibrinogen	1130	LYST	ORPHA:167
HP:0011898	Abnormality of circulating fibrinogen	5551	PRF1	ORPHA:540
HP:0011898	Abnormality of circulating fibrinogen	5551	PRF1	OMIM:603553
HP:0011898	Abnormality of circulating fibrinogen	8676	STX11	ORPHA:540
HP:0011898	Abnormality of circulating fibrinogen	8676	STX11	OMIM:603552
HP:0011898	Abnormality of circulating fibrinogen	6813	STXBP2	ORPHA:540
HP:0011898	Abnormality of circulating fibrinogen	6774	STAT3	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	5371	PML	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	5914	RARA	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	359948	IRF2BP2	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	81608	FIP1L1	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	4869	NPM1	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	5573	PRKAR1A	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	54880	BCOR	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	64859	NABP1	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	6777	STAT5B	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	4926	NUMA1	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	7704	ZBTB16	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	79718	TBL1XR1	ORPHA:520
HP:0011898	Abnormality of circulating fibrinogen	58484	NLRC4	OMIM:616050
HP:0011898	Abnormality of circulating fibrinogen	191	AHCY	ORPHA:88618
HP:0011898	Abnormality of circulating fibrinogen	84868	HAVCR2	OMIM:618398
HP:0011898	Abnormality of circulating fibrinogen	3075	CFH	ORPHA:244242
HP:0011898	Abnormality of circulating fibrinogen	3426	CFI	ORPHA:244242
HP:0011898	Abnormality of circulating fibrinogen	4179	CD46	ORPHA:244242
HP:0011898	Abnormality of circulating fibrinogen	101101692	HELLPAR	ORPHA:244242
HP:0011898	Abnormality of circulating fibrinogen	2542	SLC37A4	OMIM:619525
HP:0011898	Abnormality of circulating fibrinogen	55768	NGLY1	ORPHA:404454
HP:0011898	Abnormality of circulating fibrinogen	2243	FGA	OMIM:202400
HP:0011898	Abnormality of circulating fibrinogen	2244	FGB	OMIM:202400
HP:0011898	Abnormality of circulating fibrinogen	2266	FGG	OMIM:202400
HP:0011899	Hyperfibrinogenemia	3689	ITGB2	OMIM:116920
HP:0011896	Subconjunctival hemorrhage	10095	ARPC1B	OMIM:617718
HP:0011897	Neutrophilia	90268	OTULIN	OMIM:617099
HP:0011897	Neutrophilia	3394	IRF8	OMIM:226990
HP:0011897	Neutrophilia	4598	MVK	OMIM:260920
HP:0011897	Neutrophilia	171023	ASXL1	ORPHA:98849
HP:0011897	Neutrophilia	54790	TET2	ORPHA:98849
HP:0011897	Neutrophilia	3815	KIT	ORPHA:98849
HP:0011897	Neutrophilia	6427	SRSF2	ORPHA:98849
HP:0011897	Neutrophilia	26525	IL36RN	OMIM:614204
HP:0011897	Neutrophilia	4210	MEFV	ORPHA:3243
HP:0011897	Neutrophilia	4210	MEFV	OMIM:249100
HP:0011897	Neutrophilia	1441	CSF3R	OMIM:162830
HP:0011897	Neutrophilia	55343	SLC35C1	OMIM:266265
HP:0011897	Neutrophilia	55343	SLC35C1	ORPHA:99843
HP:0011897	Neutrophilia	5293	PIK3CD	OMIM:619281
HP:0011897	Neutrophilia	57169	ZNFX1	OMIM:619644
HP:0011897	Neutrophilia	5971	RELB	OMIM:617585
HP:0011897	Neutrophilia	3557	IL1RN	OMIM:612852
HP:0011897	Neutrophilia	5880	RAC2	OMIM:608203
HP:0011897	Neutrophilia	7187	TRAF3	ORPHA:1930
HP:0011897	Neutrophilia	81622	UNC93B1	ORPHA:1930
HP:0011897	Neutrophilia	148022	TICAM1	ORPHA:1930
HP:0011897	Neutrophilia	7098	TLR3	ORPHA:1930
HP:0011897	Neutrophilia	29110	TBK1	ORPHA:1930
HP:0011890	Prolonged bleeding following procedure	64805	P2RY12	OMIM:609821
HP:0011890	Prolonged bleeding following procedure	2811	GP1BA	OMIM:153670
HP:0011890	Prolonged bleeding following procedure	2811	GP1BA	ORPHA:274
HP:0011890	Prolonged bleeding following procedure	2811	GP1BA	OMIM:231200
HP:0011890	Prolonged bleeding following procedure	2812	GP1BB	ORPHA:274
HP:0011890	Prolonged bleeding following procedure	2812	GP1BB	OMIM:231200
HP:0011890	Prolonged bleeding following procedure	2815	GP9	ORPHA:274
HP:0011890	Prolonged bleeding following procedure	2815	GP9	OMIM:231200
HP:0011890	Prolonged bleeding following procedure	7450	VWF	OMIM:193400
HP:0011890	Prolonged bleeding following procedure	10235	RASGRP2	OMIM:615888
HP:0011890	Prolonged bleeding following procedure	2160	F11	ORPHA:329
HP:0011890	Prolonged bleeding following procedure	2157	F8	ORPHA:177926
HP:0011890	Prolonged bleeding following procedure	2147	F2	ORPHA:325
HP:0011890	Prolonged bleeding following procedure	8328	GFI1B	OMIM:187900
HP:0011890	Prolonged bleeding following procedure	2542	SLC37A4	ORPHA:79259
HP:0011890	Prolonged bleeding following procedure	2153	F5	ORPHA:326
HP:0011890	Prolonged bleeding following procedure	2165	F13B	ORPHA:331
HP:0011890	Prolonged bleeding following procedure	2162	F13A1	ORPHA:331
HP:0011890	Prolonged bleeding following procedure	9493	KIF23	ORPHA:98870
HP:0011890	Prolonged bleeding following procedure	29127	RACGAP1	ORPHA:98870
HP:0011890	Prolonged bleeding following procedure	5054	SERPINE1	ORPHA:465
HP:0011890	Prolonged bleeding following procedure	64376	IKZF5	OMIM:619130
HP:0011890	Prolonged bleeding following procedure	1729	DIAPH1	OMIM:124900
HP:0011890	Prolonged bleeding following procedure	2159	F10	ORPHA:328
HP:0011890	Prolonged bleeding following procedure	2155	F7	ORPHA:327
HP:0011890	Prolonged bleeding following procedure	84062	DTNBP1	OMIM:614076
HP:0011890	Prolonged bleeding following procedure	3674	ITGA2B	ORPHA:849
HP:0011890	Prolonged bleeding following procedure	3690	ITGB3	ORPHA:849
HP:0011890	Prolonged bleeding following procedure	2243	FGA	OMIM:202400
HP:0011890	Prolonged bleeding following procedure	2244	FGB	OMIM:202400
HP:0011890	Prolonged bleeding following procedure	2266	FGG	OMIM:202400
HP:0011890	Prolonged bleeding following procedure	9939	RBM8A	OMIM:274000
HP:0011890	Prolonged bleeding following procedure	3998	LMAN1	ORPHA:35909
HP:0011890	Prolonged bleeding following procedure	90411	MCFD2	ORPHA:35909
HP:0011891	Post-partum hemorrhage	2165	F13B	ORPHA:331
HP:0011891	Post-partum hemorrhage	2162	F13A1	ORPHA:331
HP:0011891	Post-partum hemorrhage	9493	KIF23	ORPHA:98870
HP:0011891	Post-partum hemorrhage	29127	RACGAP1	ORPHA:98870
HP:0011891	Post-partum hemorrhage	5054	SERPINE1	ORPHA:465
HP:0011891	Post-partum hemorrhage	64376	IKZF5	OMIM:619130
HP:0011891	Post-partum hemorrhage	1729	DIAPH1	OMIM:124900
HP:0011891	Post-partum hemorrhage	2157	F8	ORPHA:177926
HP:0011891	Post-partum hemorrhage	2159	F10	ORPHA:328
HP:0011891	Post-partum hemorrhage	2147	F2	ORPHA:325
HP:0011891	Post-partum hemorrhage	2155	F7	ORPHA:327
HP:0011891	Post-partum hemorrhage	84062	DTNBP1	OMIM:614076
HP:0011891	Post-partum hemorrhage	2153	F5	ORPHA:326
HP:0011892	Low levels of vitamin K	9414	TJP2	OMIM:607748
HP:0011892	Low levels of vitamin K	23600	AMACR	ORPHA:79095
HP:0011892	Low levels of vitamin K	3117	HLA-DQA1	OMIM:212750
HP:0011892	Low levels of vitamin K	3119	HLA-DQB1	OMIM:212750
HP:0011892	Low levels of vitamin K	2859	GPR35	ORPHA:171
HP:0011892	Low levels of vitamin K	10507	SEMA4D	ORPHA:171
HP:0011892	Low levels of vitamin K	4485	MST1	ORPHA:171
HP:0011892	Low levels of vitamin K	6925	TCF4	ORPHA:171
HP:0011892	Low levels of vitamin K	199221	DZIP1L	ORPHA:731
HP:0011892	Low levels of vitamin K	5314	PKHD1	ORPHA:731
HP:0011892	Low levels of vitamin K	134218	DNAJC21	ORPHA:811
HP:0011892	Low levels of vitamin K	79631	EFL1	ORPHA:811
HP:0011892	Low levels of vitamin K	51119	SBDS	ORPHA:811
HP:0011892	Low levels of vitamin K	6729	SRP54	ORPHA:811
HP:0011893	Abnormal leukocyte count	26235	FBXL4	OMIM:615471
HP:0011893	Abnormal leukocyte count	23241	PACS2	OMIM:618067
HP:0011893	Abnormal leukocyte count	959	CD40LG	OMIM:308230
HP:0011893	Abnormal leukocyte count	8676	STX11	ORPHA:540
HP:0011893	Abnormal leukocyte count	8676	STX11	OMIM:603552
HP:0011893	Abnormal leukocyte count	6813	STXBP2	ORPHA:540
HP:0011893	Abnormal leukocyte count	10559	SLC35A1	ORPHA:238459
HP:0011893	Abnormal leukocyte count	10559	SLC35A1	OMIM:603585
HP:0011893	Abnormal leukocyte count	2120	ETV6	OMIM:616216
HP:0011893	Abnormal leukocyte count	4552	MTRR	ORPHA:2169
HP:0011893	Abnormal leukocyte count	55788	LMBRD1	OMIM:277380
HP:0011893	Abnormal leukocyte count	55788	LMBRD1	ORPHA:79284
HP:0011893	Abnormal leukocyte count	29760	BLNK	OMIM:613502
HP:0011893	Abnormal leukocyte count	29760	BLNK	ORPHA:33110
HP:0011893	Abnormal leukocyte count	2122	MECOM	OMIM:616738
HP:0011893	Abnormal leukocyte count	8029	CUBN	ORPHA:35858
HP:0011893	Abnormal leukocyte count	81693	AMN	ORPHA:35858
HP:0011893	Abnormal leukocyte count	219285	SAMD9L	OMIM:159550
HP:0011893	Abnormal leukocyte count	2530	FUT8	OMIM:618005
HP:0011893	Abnormal leukocyte count	7037	TFRC	OMIM:616740
HP:0011893	Abnormal leukocyte count	816	CAMK2B	OMIM:617799
HP:0011893	Abnormal leukocyte count	28956	LAMTOR2	ORPHA:90023
HP:0011893	Abnormal leukocyte count	28956	LAMTOR2	OMIM:610798
HP:0011893	Abnormal leukocyte count	5095	PCCA	OMIM:606054
HP:0011893	Abnormal leukocyte count	5096	PCCB	OMIM:606054
HP:0011893	Abnormal leukocyte count	112812	FDX2	OMIM:251900
HP:0011893	Abnormal leukocyte count	958	CD40	OMIM:606843
HP:0011893	Abnormal leukocyte count	4700	NDUFA6	OMIM:618253
HP:0011893	Abnormal leukocyte count	175	AGA	OMIM:208400
HP:0011893	Abnormal leukocyte count	5826	ABCD4	OMIM:614857
HP:0011893	Abnormal leukocyte count	326625	MMAB	OMIM:251110
HP:0011893	Abnormal leukocyte count	5873	RAB27A	ORPHA:79477
HP:0011893	Abnormal leukocyte count	2328	FMO3	OMIM:602079
HP:0011893	Abnormal leukocyte count	8943	AP3D1	OMIM:617050
HP:0011893	Abnormal leukocyte count	29927	SEC61A1	OMIM:617056
HP:0011893	Abnormal leukocyte count	9401	RECQL4	ORPHA:221016
HP:0011893	Abnormal leukocyte count	4796	TONSL	ORPHA:93357
HP:0011893	Abnormal leukocyte count	4796	TONSL	OMIM:271510
HP:0011893	Abnormal leukocyte count	166785	MMAA	OMIM:251100
HP:0011893	Abnormal leukocyte count	25839	COG4	OMIM:618150
HP:0011893	Abnormal leukocyte count	150274	HSCB	OMIM:619523
HP:0011893	Abnormal leukocyte count	2937	GSS	OMIM:266130
HP:0011893	Abnormal leukocyte count	6603	SMARCD2	OMIM:617475
HP:0011893	Abnormal leukocyte count	84522	JAGN1	OMIM:616022
HP:0011893	Abnormal leukocyte count	25974	MMACHC	ORPHA:79282
HP:0011893	Abnormal leukocyte count	25974	MMACHC	OMIM:277400
HP:0011893	Abnormal leukocyte count	51567	TDP2	OMIM:616949
HP:0011893	Abnormal leukocyte count	833	CARS1	ORPHA:33364
HP:0011893	Abnormal leukocyte count	2068	ERCC2	ORPHA:33364
HP:0011893	Abnormal leukocyte count	7737	RNF113A	ORPHA:33364
HP:0011893	Abnormal leukocyte count	136647	MPLKIP	ORPHA:33364
HP:0011893	Abnormal leukocyte count	6897	TARS1	ORPHA:33364
HP:0011893	Abnormal leukocyte count	2071	ERCC3	ORPHA:33364
HP:0011893	Abnormal leukocyte count	2961	GTF2E2	ORPHA:33364
HP:0011893	Abnormal leukocyte count	27429	HTRA2	OMIM:617248
HP:0011893	Abnormal leukocyte count	7319	UBE2A	ORPHA:163956
HP:0011893	Abnormal leukocyte count	55294	FBXW7	OMIM:620012
HP:0011893	Abnormal leukocyte count	5052	PRDX1	OMIM:277400
HP:0011893	Abnormal leukocyte count	10456	HAX1	OMIM:610738
HP:0011893	Abnormal leukocyte count	56262	LRRC8A	ORPHA:33110
HP:0011893	Abnormal leukocyte count	64682	ANAPC1	ORPHA:221008
HP:0011893	Abnormal leukocyte count	30009	TBX21	OMIM:619630
HP:0011893	Abnormal leukocyte count	5159	PDGFRB	OMIM:131440
HP:0011893	Abnormal leukocyte count	100151683	RNU4ATAC	ORPHA:353298
HP:0011893	Abnormal leukocyte count	100151683	RNU4ATAC	OMIM:616651
HP:0011893	Abnormal leukocyte count	5156	PDGFRA	OMIM:607685
HP:0011893	Abnormal leukocyte count	825	CAPN3	OMIM:253600
HP:0011893	Abnormal leukocyte count	113235	SLC46A1	ORPHA:90045
HP:0011893	Abnormal leukocyte count	1041	CDSN	OMIM:270300
HP:0011893	Abnormal leukocyte count	6720	SREBF1	OMIM:158310
HP:0011893	Abnormal leukocyte count	3716	JAK1	OMIM:618999
HP:0011893	Abnormal leukocyte count	84905	ZNF341	OMIM:618282
HP:0011893	Abnormal leukocyte count	10999	SLC27A4	ORPHA:88621
HP:0011893	Abnormal leukocyte count	128	ADH5	OMIM:619151
HP:0011893	Abnormal leukocyte count	9056	SLC7A7	ORPHA:470
HP:0011893	Abnormal leukocyte count	9056	SLC7A7	OMIM:222700
HP:0011893	Abnormal leukocyte count	51750	RTEL1	OMIM:615190
HP:0011893	Abnormal leukocyte count	1736	DKC1	OMIM:305000
HP:0011893	Abnormal leukocyte count	6916	TBXAS1	OMIM:231095
HP:0011893	Abnormal leukocyte count	375748	ERCC6L2	OMIM:615715
HP:0011893	Abnormal leukocyte count	6165	RPL35A	OMIM:612528
HP:0011893	Abnormal leukocyte count	6165	RPL35A	ORPHA:124
HP:0011893	Abnormal leukocyte count	55719	SLF2	OMIM:620184
HP:0011893	Abnormal leukocyte count	79650	USB1	OMIM:604173
HP:0011893	Abnormal leukocyte count	55593	OTUD5	OMIM:301056
HP:0011893	Abnormal leukocyte count	5551	PRF1	OMIM:603553
HP:0011893	Abnormal leukocyte count	374879	ZNF699	OMIM:619488
HP:0011893	Abnormal leukocyte count	11311	VPS45	OMIM:615285
HP:0011893	Abnormal leukocyte count	65082	VPS33A	OMIM:617303
HP:0011893	Abnormal leukocyte count	65082	VPS33A	ORPHA:505248
HP:0011893	Abnormal leukocyte count	1130	LYST	OMIM:214500
HP:0011893	Abnormal leukocyte count	3516	RBPJ	ORPHA:974
HP:0011893	Abnormal leukocyte count	4851	NOTCH1	ORPHA:974
HP:0011893	Abnormal leukocyte count	57514	ARHGAP31	ORPHA:974
HP:0011893	Abnormal leukocyte count	57572	DOCK6	ORPHA:974
HP:0011893	Abnormal leukocyte count	285203	EOGT	ORPHA:974
HP:0011893	Abnormal leukocyte count	54567	DLL4	ORPHA:974
HP:0011893	Abnormal leukocyte count	2188	FANCF	OMIM:603467
HP:0011893	Abnormal leukocyte count	2188	FANCF	ORPHA:84
HP:0011893	Abnormal leukocyte count	537	ATP6AP1	OMIM:300972
HP:0011893	Abnormal leukocyte count	6208	RPS14	ORPHA:86841
HP:0011893	Abnormal leukocyte count	3988	LIPA	OMIM:278000
HP:0011893	Abnormal leukocyte count	672	BRCA1	ORPHA:84
HP:0011893	Abnormal leukocyte count	10459	MAD2L2	ORPHA:84
HP:0011893	Abnormal leukocyte count	7516	XRCC2	ORPHA:84
HP:0011893	Abnormal leukocyte count	29089	UBE2T	ORPHA:84
HP:0011893	Abnormal leukocyte count	675	BRCA2	ORPHA:84
HP:0011893	Abnormal leukocyte count	55120	FANCL	ORPHA:84
HP:0011893	Abnormal leukocyte count	2177	FANCD2	ORPHA:84
HP:0011893	Abnormal leukocyte count	2175	FANCA	ORPHA:84
HP:0011893	Abnormal leukocyte count	2187	FANCB	ORPHA:84
HP:0011893	Abnormal leukocyte count	2176	FANCC	ORPHA:84
HP:0011893	Abnormal leukocyte count	2178	FANCE	ORPHA:84
HP:0011893	Abnormal leukocyte count	2189	FANCG	ORPHA:84
HP:0011893	Abnormal leukocyte count	5888	RAD51	ORPHA:84
HP:0011893	Abnormal leukocyte count	5889	RAD51C	ORPHA:84
HP:0011893	Abnormal leukocyte count	55159	RFWD3	ORPHA:84
HP:0011893	Abnormal leukocyte count	83990	BRIP1	ORPHA:84
HP:0011893	Abnormal leukocyte count	57697	FANCM	ORPHA:84
HP:0011893	Abnormal leukocyte count	79728	PALB2	ORPHA:84
HP:0011893	Abnormal leukocyte count	84464	SLX4	ORPHA:84
HP:0011893	Abnormal leukocyte count	2072	ERCC4	ORPHA:84
HP:0011893	Abnormal leukocyte count	55215	FANCI	ORPHA:84
HP:0011893	Abnormal leukocyte count	4594	MMUT	OMIM:251000
HP:0011893	Abnormal leukocyte count	23479	ISCU	OMIM:255125
HP:0011893	Abnormal leukocyte count	157680	VPS13B	OMIM:216550
HP:0011893	Abnormal leukocyte count	5277	PIGA	ORPHA:447
HP:0011893	Abnormal leukocyte count	3712	IVD	OMIM:243500
HP:0011893	Abnormal leukocyte count	6135	RPL11	ORPHA:124
HP:0011893	Abnormal leukocyte count	6138	RPL15	ORPHA:124
HP:0011893	Abnormal leukocyte count	6229	RPS24	ORPHA:124
HP:0011893	Abnormal leukocyte count	6125	RPL5	ORPHA:124
HP:0011893	Abnormal leukocyte count	6204	RPS10	ORPHA:124
HP:0011893	Abnormal leukocyte count	6224	RPS20	ORPHA:124
HP:0011893	Abnormal leukocyte count	2623	GATA1	ORPHA:124
HP:0011893	Abnormal leukocyte count	2623	GATA1	ORPHA:79277
HP:0011893	Abnormal leukocyte count	6223	RPS19	ORPHA:124
HP:0011893	Abnormal leukocyte count	6232	RPS27	ORPHA:124
HP:0011893	Abnormal leukocyte count	6231	RPS26	ORPHA:124
HP:0011893	Abnormal leukocyte count	11224	RPL35	ORPHA:124
HP:0011893	Abnormal leukocyte count	6160	RPL31	ORPHA:124
HP:0011893	Abnormal leukocyte count	6218	RPS17	ORPHA:124
HP:0011893	Abnormal leukocyte count	6201	RPS7	ORPHA:124
HP:0011893	Abnormal leukocyte count	6155	RPL27	ORPHA:124
HP:0011893	Abnormal leukocyte count	6154	RPL26	ORPHA:124
HP:0011893	Abnormal leukocyte count	6210	RPS15A	ORPHA:124
HP:0011893	Abnormal leukocyte count	90121	TSR2	ORPHA:124
HP:0011893	Abnormal leukocyte count	6141	RPL18	ORPHA:124
HP:0011893	Abnormal leukocyte count	6235	RPS29	ORPHA:124
HP:0011893	Abnormal leukocyte count	6234	RPS28	ORPHA:124
HP:0011893	Abnormal leukocyte count	26258	BLOC1S6	OMIM:614171
HP:0011893	Abnormal leukocyte count	2212	FCGR2A	OMIM:152700
HP:0011893	Abnormal leukocyte count	2213	FCGR2B	OMIM:152700
HP:0011893	Abnormal leukocyte count	26191	PTPN22	OMIM:152700
HP:0011893	Abnormal leukocyte count	11277	TREX1	OMIM:152700
HP:0011893	Abnormal leukocyte count	1773	DNASE1	OMIM:152700
HP:0011893	Abnormal leukocyte count	54938	SARS2	OMIM:613845
HP:0011893	Abnormal leukocyte count	51095	TRNT1	OMIM:616959
HP:0011893	Abnormal leukocyte count	7390	UROS	ORPHA:79277
HP:0011893	Abnormal leukocyte count	760	CA2	ORPHA:2785
HP:0011893	Abnormal leukocyte count	2629	GBA1	ORPHA:77259
HP:0011893	Abnormal leukocyte count	950	SCARB2	ORPHA:77259
HP:0011893	Abnormal leukocyte count	5728	PTEN	OMIM:605309
HP:0011893	Abnormal leukocyte count	5728	PTEN	OMIM:158350
HP:0011893	Abnormal leukocyte count	54892	NCAPG2	OMIM:618460
HP:0011893	Abnormal leukocyte count	4860	PNP	OMIM:613179
HP:0011893	Abnormal leukocyte count	4860	PNP	ORPHA:760
HP:0011893	Abnormal leukocyte count	22800	RRAS2	OMIM:618624
HP:0011893	Abnormal leukocyte count	6775	STAT4	ORPHA:93552
HP:0011893	Abnormal leukocyte count	6696	SPP1	ORPHA:93552
HP:0011893	Abnormal leukocyte count	3654	IRAK1	ORPHA:93552
HP:0011893	Abnormal leukocyte count	7174	TPP2	ORPHA:444463
HP:0011893	Abnormal leukocyte count	114803	MYSM1	ORPHA:508542
HP:0011893	Abnormal leukocyte count	4522	MTHFD1	OMIM:617780
HP:0011893	Abnormal leukocyte count	11151	CORO1A	OMIM:615401
HP:0011893	Abnormal leukocyte count	26277	TINF2	OMIM:127550
HP:0011893	Abnormal leukocyte count	7012	TERC	OMIM:127550
HP:0011893	Abnormal leukocyte count	7015	TERT	OMIM:127550
HP:0011893	Abnormal leukocyte count	9837	GINS1	OMIM:617827
HP:0011893	Abnormal leukocyte count	916	CD3E	ORPHA:169160
HP:0011893	Abnormal leukocyte count	916	CD3E	OMIM:615615
HP:0011893	Abnormal leukocyte count	3930	LBR	OMIM:613471
HP:0011893	Abnormal leukocyte count	1493	CTLA4	OMIM:616100
HP:0011893	Abnormal leukocyte count	7128	TNFAIP3	OMIM:616744
HP:0011893	Abnormal leukocyte count	340061	STING1	OMIM:615934
HP:0011893	Abnormal leukocyte count	7852	CXCR4	ORPHA:51636
HP:0011893	Abnormal leukocyte count	4478	MSN	OMIM:300988
HP:0011893	Abnormal leukocyte count	79415	CYBC1	OMIM:618935
HP:0011893	Abnormal leukocyte count	3070	HELLS	ORPHA:2268
HP:0011893	Abnormal leukocyte count	83879	CDCA7	ORPHA:2268
HP:0011893	Abnormal leukocyte count	9841	ZBTB24	ORPHA:2268
HP:0011893	Abnormal leukocyte count	23495	TNFRSF13B	ORPHA:1572
HP:0011893	Abnormal leukocyte count	4790	NFKB1	ORPHA:1572
HP:0011893	Abnormal leukocyte count	115650	TNFRSF13C	ORPHA:1572
HP:0011893	Abnormal leukocyte count	1380	CR2	ORPHA:1572
HP:0011893	Abnormal leukocyte count	8742	TNFSF12	ORPHA:1572
HP:0011893	Abnormal leukocyte count	930	CD19	ORPHA:1572
HP:0011893	Abnormal leukocyte count	29851	ICOS	ORPHA:1572
HP:0011893	Abnormal leukocyte count	931	MS4A1	ORPHA:1572
HP:0011893	Abnormal leukocyte count	975	CD81	ORPHA:1572
HP:0011893	Abnormal leukocyte count	200734	SPRED2	OMIM:619745
HP:0011893	Abnormal leukocyte count	8883	NAE1	OMIM:620210
HP:0011893	Abnormal leukocyte count	80185	TTI2	ORPHA:391307
HP:0011893	Abnormal leukocyte count	3572	IL6ST	OMIM:619752
HP:0011893	Abnormal leukocyte count	54809	SAMD9	OMIM:617053
HP:0011893	Abnormal leukocyte count	8879	SGPL1	OMIM:617575
HP:0011893	Abnormal leukocyte count	9508	ADAMTS3	ORPHA:2136
HP:0011893	Abnormal leukocyte count	147372	CCBE1	ORPHA:2136
HP:0011893	Abnormal leukocyte count	79633	FAT4	ORPHA:2136
HP:0011893	Abnormal leukocyte count	6789	STK4	OMIM:614868
HP:0011893	Abnormal leukocyte count	7036	TFR2	OMIM:604250
HP:0011893	Abnormal leukocyte count	51284	TLR7	OMIM:301080
HP:0011893	Abnormal leukocyte count	6948	TCN2	ORPHA:859
HP:0011893	Abnormal leukocyte count	64135	IFIH1	OMIM:619773
HP:0011893	Abnormal leukocyte count	5692	PSMB4	OMIM:617591
HP:0011893	Abnormal leukocyte count	5698	PSMB9	OMIM:617591
HP:0011893	Abnormal leukocyte count	4194	MDM4	OMIM:618849
HP:0011893	Abnormal leukocyte count	404672	GTF2H5	OMIM:616395
HP:0011893	Abnormal leukocyte count	9652	SKIC3	ORPHA:84064
HP:0011893	Abnormal leukocyte count	6499	SKIC2	ORPHA:84064
HP:0011893	Abnormal leukocyte count	5297	PI4KA	OMIM:619708
HP:0011893	Abnormal leukocyte count	2215	FCGR3B	ORPHA:464370
HP:0011893	Abnormal leukocyte count	83737	ITCH	ORPHA:228426
HP:0011893	Abnormal leukocyte count	201294	UNC13D	OMIM:608898
HP:0011893	Abnormal leukocyte count	867	CBL	ORPHA:98850
HP:0011893	Abnormal leukocyte count	861	RUNX1	ORPHA:98850
HP:0011893	Abnormal leukocyte count	861	RUNX1	ORPHA:521
HP:0011893	Abnormal leukocyte count	3689	ITGB2	OMIM:116920
HP:0011893	Abnormal leukocyte count	3155	HMGCL	ORPHA:20
HP:0011893	Abnormal leukocyte count	27178	IL37	OMIM:619398
HP:0011893	Abnormal leukocyte count	8573	CASK	OMIM:300908
HP:0011893	Abnormal leukocyte count	2539	G6PD	OMIM:300908
HP:0011893	Abnormal leukocyte count	811	CALR	ORPHA:824
HP:0011893	Abnormal leukocyte count	4352	MPL	ORPHA:824
HP:0011893	Abnormal leukocyte count	3717	JAK2	ORPHA:824
HP:0011893	Abnormal leukocyte count	3717	JAK2	OMIM:263300
HP:0011893	Abnormal leukocyte count	7518	XRCC4	ORPHA:99812
HP:0011893	Abnormal leukocyte count	3981	LIG4	ORPHA:99812
HP:0011893	Abnormal leukocyte count	3981	LIG4	ORPHA:39041
HP:0011893	Abnormal leukocyte count	5314	PKHD1	ORPHA:53035
HP:0011893	Abnormal leukocyte count	23451	SF3B1	ORPHA:75564
HP:0011893	Abnormal leukocyte count	8882	ZPR1	OMIM:619321
HP:0011893	Abnormal leukocyte count	3459	IFNGR1	OMIM:209950
HP:0011893	Abnormal leukocyte count	7132	TNFRSF1A	ORPHA:32960
HP:0011893	Abnormal leukocyte count	9663	LPIN2	ORPHA:77297
HP:0011893	Abnormal leukocyte count	84196	USP48	ORPHA:96253
HP:0011893	Abnormal leukocyte count	7157	TP53	ORPHA:96253
HP:0011893	Abnormal leukocyte count	9101	USP8	ORPHA:96253
HP:0011893	Abnormal leukocyte count	64072	CDH23	ORPHA:96253
HP:0011893	Abnormal leukocyte count	2908	NR3C1	ORPHA:96253
HP:0011893	Abnormal leukocyte count	673	BRAF	ORPHA:96253
HP:0011893	Abnormal leukocyte count	546	ATRX	ORPHA:96253
HP:0011893	Abnormal leukocyte count	3043	HBB	OMIM:603903
HP:0011893	Abnormal leukocyte count	3043	HBB	ORPHA:232
HP:0011893	Abnormal leukocyte count	3043	HBB	ORPHA:231222
HP:0011893	Abnormal leukocyte count	10616	RBCK1	OMIM:615895
HP:0011893	Abnormal leukocyte count	6773	STAT2	OMIM:618886
HP:0011893	Abnormal leukocyte count	22852	ANKRD26	OMIM:188000
HP:0011893	Abnormal leukocyte count	114548	NLRP3	ORPHA:1451
HP:0011893	Abnormal leukocyte count	114548	NLRP3	OMIM:191900
HP:0011893	Abnormal leukocyte count	114548	NLRP3	OMIM:607115
HP:0011893	Abnormal leukocyte count	114548	NLRP3	OMIM:120100
HP:0011893	Abnormal leukocyte count	57167	SALL4	ORPHA:2307
HP:0011893	Abnormal leukocyte count	57167	SALL4	OMIM:147750
HP:0011893	Abnormal leukocyte count	11330	CTRC	ORPHA:676
HP:0011893	Abnormal leukocyte count	5644	PRSS1	ORPHA:676
HP:0011893	Abnormal leukocyte count	5645	PRSS2	ORPHA:676
HP:0011893	Abnormal leukocyte count	6690	SPINK1	ORPHA:676
HP:0011893	Abnormal leukocyte count	846	CASR	ORPHA:676
HP:0011893	Abnormal leukocyte count	1080	CFTR	ORPHA:676
HP:0011893	Abnormal leukocyte count	1357	CPA1	ORPHA:676
HP:0011893	Abnormal leukocyte count	57217	TTC7A	OMIM:243150
HP:0011893	Abnormal leukocyte count	10367	MICU1	OMIM:615673
HP:0011893	Abnormal leukocyte count	83706	FERMT3	OMIM:612840
HP:0011893	Abnormal leukocyte count	6023	RMRP	ORPHA:39041
HP:0011893	Abnormal leukocyte count	55636	CHD7	ORPHA:39041
HP:0011893	Abnormal leukocyte count	5896	RAG1	ORPHA:39041
HP:0011893	Abnormal leukocyte count	5897	RAG2	ORPHA:39041
HP:0011893	Abnormal leukocyte count	100	ADA	ORPHA:39041
HP:0011893	Abnormal leukocyte count	374354	NHLRC2	OMIM:618278
HP:0011893	Abnormal leukocyte count	144811	LACC1	OMIM:618795
HP:0011893	Abnormal leukocyte count	51816	ADA2	OMIM:615688
HP:0011893	Abnormal leukocyte count	91662	NLRP12	OMIM:611762
HP:0011893	Abnormal leukocyte count	10551	AGR2	OMIM:620233
HP:0011893	Abnormal leukocyte count	38	ACAT1	ORPHA:134
HP:0011893	Abnormal leukocyte count	5966	REL	OMIM:619652
HP:0011893	Abnormal leukocyte count	4938	OAS1	OMIM:618042
HP:0011893	Abnormal leukocyte count	3458	IFNG	OMIM:618963
HP:0011893	Abnormal leukocyte count	9939	RBM8A	OMIM:274000
HP:0011893	Abnormal leukocyte count	28962	OSTM1	OMIM:259720
HP:0011893	Abnormal leukocyte count	613	BCR	ORPHA:521
HP:0011893	Abnormal leukocyte count	25	ABL1	ORPHA:521
HP:0011893	Abnormal leukocyte count	6774	STAT3	ORPHA:520
HP:0011893	Abnormal leukocyte count	5371	PML	ORPHA:520
HP:0011893	Abnormal leukocyte count	5914	RARA	ORPHA:520
HP:0011893	Abnormal leukocyte count	359948	IRF2BP2	ORPHA:520
HP:0011893	Abnormal leukocyte count	81608	FIP1L1	ORPHA:520
HP:0011893	Abnormal leukocyte count	4869	NPM1	ORPHA:520
HP:0011893	Abnormal leukocyte count	5573	PRKAR1A	ORPHA:520
HP:0011893	Abnormal leukocyte count	54880	BCOR	ORPHA:520
HP:0011893	Abnormal leukocyte count	64859	NABP1	ORPHA:520
HP:0011893	Abnormal leukocyte count	6777	STAT5B	ORPHA:520
HP:0011893	Abnormal leukocyte count	4926	NUMA1	ORPHA:520
HP:0011893	Abnormal leukocyte count	7704	ZBTB16	ORPHA:520
HP:0011893	Abnormal leukocyte count	79718	TBL1XR1	ORPHA:520
HP:0011893	Abnormal leukocyte count	7040	TGFB1	OMIM:618213
HP:0011893	Abnormal leukocyte count	8517	IKBKG	OMIM:308300
HP:0011893	Abnormal leukocyte count	5557	PRIM1	OMIM:620005
HP:0011893	Abnormal leukocyte count	4791	NFKB2	ORPHA:293978
HP:0011893	Abnormal leukocyte count	1789	DNMT3B	OMIM:242860
HP:0011893	Abnormal leukocyte count	6772	STAT1	ORPHA:391487
HP:0011893	Abnormal leukocyte count	695	BTK	OMIM:300755
HP:0011893	Abnormal leukocyte count	6909	TBX2	OMIM:618223
HP:0011893	Abnormal leukocyte count	55388	MCM10	OMIM:619313
HP:0011893	Abnormal leukocyte count	4683	NBN	OMIM:251260
HP:0011893	Abnormal leukocyte count	3574	IL7	OMIM:618309
HP:0011893	Abnormal leukocyte count	8737	RIPK1	OMIM:618108
HP:0011893	Abnormal leukocyte count	3718	JAK3	OMIM:600802
HP:0011893	Abnormal leukocyte count	3718	JAK3	ORPHA:35078
HP:0011893	Abnormal leukocyte count	23149	FCHO1	OMIM:619164
HP:0011893	Abnormal leukocyte count	5591	PRKDC	OMIM:615966
HP:0011893	Abnormal leukocyte count	79840	NHEJ1	ORPHA:169079
HP:0011893	Abnormal leukocyte count	54	ACP5	OMIM:607944
HP:0011893	Abnormal leukocyte count	4615	MYD88	OMIM:612260
HP:0011893	Abnormal leukocyte count	919	CD247	OMIM:610163
HP:0011893	Abnormal leukocyte count	915	CD3D	OMIM:615617
HP:0011893	Abnormal leukocyte count	3431	SP110	ORPHA:79124
HP:0011893	Abnormal leukocyte count	1794	DOCK2	OMIM:616433
HP:0011893	Abnormal leukocyte count	5788	PTPRC	OMIM:619924
HP:0011893	Abnormal leukocyte count	3071	NCKAP1L	OMIM:618982
HP:0011893	Abnormal leukocyte count	84433	CARD11	OMIM:616452
HP:0011893	Abnormal leukocyte count	2137	EXTL3	ORPHA:508533
HP:0011893	Abnormal leukocyte count	57724	EPG5	OMIM:242840
HP:0011893	Abnormal leukocyte count	7454	WAS	OMIM:301000
HP:0011893	Abnormal leukocyte count	84061	MAGT1	OMIM:300853
HP:0011893	Abnormal leukocyte count	10043	TOM1	OMIM:619510
HP:0011893	Abnormal leukocyte count	3702	ITK	OMIM:613011
HP:0011893	Abnormal leukocyte count	10625	IVNS1ABP	OMIM:618969
HP:0011893	Abnormal leukocyte count	3551	IKBKB	OMIM:618204
HP:0011893	Abnormal leukocyte count	3932	LCK	OMIM:615758
HP:0011893	Abnormal leukocyte count	54440	SASH3	OMIM:301082
HP:0011893	Abnormal leukocyte count	9094	UNC119	OMIM:615518
HP:0011893	Abnormal leukocyte count	4609	MYC	ORPHA:543
HP:0011893	Abnormal leukocyte count	3575	IL7R	ORPHA:169154
HP:0011893	Abnormal leukocyte count	81704	DOCK8	OMIM:243700
HP:0011893	Abnormal leukocyte count	56160	NSMCE3	OMIM:617241
HP:0011893	Abnormal leukocyte count	472	ATM	OMIM:208900
HP:0011893	Abnormal leukocyte count	3953	LEPR	ORPHA:179494
HP:0011893	Abnormal leukocyte count	3952	LEP	ORPHA:66628
HP:0011893	Abnormal leukocyte count	7456	WIPF1	OMIM:614493
HP:0011893	Abnormal leukocyte count	917	CD3G	OMIM:615607
HP:0011893	Abnormal leukocyte count	7535	ZAP70	OMIM:269840
HP:0011893	Abnormal leukocyte count	7535	ZAP70	ORPHA:911
HP:0011893	Abnormal leukocyte count	925	CD8A	OMIM:608957
HP:0011893	Abnormal leukocyte count	1991	ELANE	OMIM:202700
HP:0011893	Abnormal leukocyte count	204	AK2	OMIM:267500
HP:0011893	Abnormal leukocyte count	22806	IKZF3	OMIM:619437
HP:0011893	Abnormal leukocyte count	3507	IGHM	OMIM:601495
HP:0011893	Abnormal leukocyte count	974	CD79B	OMIM:612692
HP:0011893	Abnormal leukocyte count	23250	ATP11A	OMIM:619851
HP:0011893	Abnormal leukocyte count	79087	ALG12	ORPHA:79324
HP:0011893	Abnormal leukocyte count	567	B2M	OMIM:241600
HP:0011893	Abnormal leukocyte count	10320	IKZF1	OMIM:616873
HP:0011893	Abnormal leukocyte count	64858	DCLRE1B	OMIM:620133
HP:0011893	Abnormal leukocyte count	2038	EPB42	OMIM:612690
HP:0011893	Abnormal leukocyte count	90268	OTULIN	OMIM:617099
HP:0011893	Abnormal leukocyte count	3394	IRF8	OMIM:226990
HP:0011893	Abnormal leukocyte count	4598	MVK	OMIM:260920
HP:0011893	Abnormal leukocyte count	171023	ASXL1	ORPHA:98849
HP:0011893	Abnormal leukocyte count	54790	TET2	ORPHA:98849
HP:0011893	Abnormal leukocyte count	3815	KIT	ORPHA:98849
HP:0011893	Abnormal leukocyte count	6427	SRSF2	ORPHA:98849
HP:0011893	Abnormal leukocyte count	26525	IL36RN	OMIM:614204
HP:0011893	Abnormal leukocyte count	4210	MEFV	ORPHA:3243
HP:0011893	Abnormal leukocyte count	4210	MEFV	OMIM:249100
HP:0011893	Abnormal leukocyte count	1441	CSF3R	OMIM:162830
HP:0011893	Abnormal leukocyte count	55343	SLC35C1	OMIM:266265
HP:0011893	Abnormal leukocyte count	55343	SLC35C1	ORPHA:99843
HP:0011893	Abnormal leukocyte count	57169	ZNFX1	OMIM:619644
HP:0011893	Abnormal leukocyte count	5971	RELB	OMIM:617585
HP:0011893	Abnormal leukocyte count	3557	IL1RN	OMIM:612852
HP:0011893	Abnormal leukocyte count	7187	TRAF3	ORPHA:1930
HP:0011893	Abnormal leukocyte count	81622	UNC93B1	ORPHA:1930
HP:0011893	Abnormal leukocyte count	148022	TICAM1	ORPHA:1930
HP:0011893	Abnormal leukocyte count	7098	TLR3	ORPHA:1930
HP:0011893	Abnormal leukocyte count	29110	TBK1	ORPHA:1930
HP:0011893	Abnormal leukocyte count	1053	CEBPE	OMIM:245480
HP:0011893	Abnormal leukocyte count	51311	TLR8	OMIM:301078
HP:0011893	Abnormal leukocyte count	10312	TCIRG1	ORPHA:486
HP:0011893	Abnormal leukocyte count	2672	GFI1	ORPHA:486
HP:0011893	Abnormal leukocyte count	2672	GFI1	OMIM:613107
HP:0011893	Abnormal leukocyte count	92579	G6PC3	OMIM:612541
HP:0011893	Abnormal leukocyte count	51428	DDX41	OMIM:616871
HP:0011893	Abnormal leukocyte count	56259	CTNNBL1	OMIM:619846
HP:0011893	Abnormal leukocyte count	5294	PIK3CG	OMIM:619802
HP:0011893	Abnormal leukocyte count	5293	PIK3CD	ORPHA:221139
HP:0011893	Abnormal leukocyte count	90417	KNSTRN	ORPHA:221139
HP:0011893	Abnormal leukocyte count	96459	FNIP1	OMIM:619705
HP:0011893	Abnormal leukocyte count	973	CD79A	OMIM:613501
HP:0011893	Abnormal leukocyte count	3543	IGLL1	OMIM:613500
HP:0011893	Abnormal leukocyte count	7922	SLC39A7	OMIM:619693
HP:0011893	Abnormal leukocyte count	9138	ARHGEF1	OMIM:618459
HP:0011893	Abnormal leukocyte count	60468	BACH2	OMIM:618394
HP:0011893	Abnormal leukocyte count	8651	SOCS1	OMIM:619375
HP:0011893	Abnormal leukocyte count	10525	HYOU1	OMIM:233600
HP:0011893	Abnormal leukocyte count	5336	PLCG2	OMIM:614878
HP:0011893	Abnormal leukocyte count	3570	IL6R	OMIM:618944
HP:0011893	Abnormal leukocyte count	59067	IL21	OMIM:615767
HP:0011893	Abnormal leukocyte count	3115	HLA-DPB1	ORPHA:133
HP:0011893	Abnormal leukocyte count	64170	CARD9	OMIM:212050
HP:0011893	Abnormal leukocyte count	355	FAS	ORPHA:3261
HP:0011893	Abnormal leukocyte count	356	FASLG	ORPHA:3261
HP:0011893	Abnormal leukocyte count	843	CASP10	ORPHA:3261
HP:0011893	Abnormal leukocyte count	641	BLM	ORPHA:125
HP:0011893	Abnormal leukocyte count	5238	PGM3	ORPHA:443811
HP:0011893	Abnormal leukocyte count	5994	RFXAP	ORPHA:572
HP:0011893	Abnormal leukocyte count	4261	CIITA	ORPHA:572
HP:0011893	Abnormal leukocyte count	5993	RFX5	ORPHA:572
HP:0011893	Abnormal leukocyte count	8625	RFXANK	ORPHA:572
HP:0011893	Abnormal leukocyte count	9948	WDR1	OMIM:150550
HP:0011893	Abnormal leukocyte count	6850	SYK	OMIM:619381
HP:0011893	Abnormal leukocyte count	50943	FOXP3	ORPHA:37042
HP:0011893	Abnormal leukocyte count	399	RHOH	OMIM:618307
HP:0011893	Abnormal leukocyte count	3561	IL2RG	ORPHA:276
HP:0011893	Abnormal leukocyte count	64919	BCL11B	OMIM:617237
HP:0011893	Abnormal leukocyte count	64919	BCL11B	OMIM:618092
HP:0011893	Abnormal leukocyte count	5880	RAC2	OMIM:618986
HP:0011893	Abnormal leukocyte count	5880	RAC2	OMIM:618987
HP:0011893	Abnormal leukocyte count	5880	RAC2	OMIM:608203
HP:0011893	Abnormal leukocyte count	6117	RPA1	OMIM:619767
HP:0011893	Abnormal leukocyte count	79991	STN1	OMIM:617341
HP:0011893	Abnormal leukocyte count	8456	FOXN1	OMIM:618806
HP:0011893	Abnormal leukocyte count	64421	DCLRE1C	OMIM:602450
HP:0011893	Abnormal leukocyte count	3937	LCP2	OMIM:619374
HP:0011893	Abnormal leukocyte count	29775	CARD10	OMIM:619632
HP:0011893	Abnormal leukocyte count	11005	SPINK5	OMIM:256500
HP:0011893	Abnormal leukocyte count	10526	IPO8	OMIM:619472
HP:0011893	Abnormal leukocyte count	28755	TRAC	OMIM:615387
HP:0011893	Abnormal leukocyte count	22861	NLRP1	OMIM:617388
HP:0011893	Abnormal leukocyte count	10159	ATP6AP2	OMIM:301045
HP:0011893	Abnormal leukocyte count	920	CD4	OMIM:619238
HP:0011893	Abnormal leukocyte count	5580	PRKCD	OMIM:615559
HP:0011893	Abnormal leukocyte count	10125	RASGRP1	OMIM:618534
HP:0011893	Abnormal leukocyte count	51371	POMP	OMIM:618048
HP:0011893	Abnormal leukocyte count	2624	GATA2	OMIM:614038
HP:0011893	Abnormal leukocyte count	841	CASP8	OMIM:607271
HP:0011893	Abnormal leukocyte count	3559	IL2RA	OMIM:606367
HP:0011893	Abnormal leukocyte count	8546	AP3B1	OMIM:608233
HP:0011893	Abnormal leukocyte count	50619	DEF6	OMIM:619573
HP:0011893	Abnormal leukocyte count	3560	IL2RB	OMIM:618495
HP:0011893	Abnormal leukocyte count	84876	ORAI1	OMIM:612782
HP:0011893	Abnormal leukocyte count	10892	MALT1	OMIM:615468
HP:0011893	Abnormal leukocyte count	6786	STIM1	OMIM:612783
HP:0011893	Abnormal leukocyte count	6901	TAFAZZIN	OMIM:302060
HP:0011893	Abnormal leukocyte count	2000	ELF4	OMIM:301074
HP:0011893	Abnormal leukocyte count	3845	KRAS	OMIM:614470
HP:0011893	Abnormal leukocyte count	4893	NRAS	OMIM:614470
HP:0011893	Abnormal leukocyte count	79621	RNASEH2B	OMIM:610181
HP:0011893	Abnormal leukocyte count	54914	FOCAD	OMIM:619991
HP:0011893	Abnormal leukocyte count	84823	LMNB2	ORPHA:79087
HP:0011893	Abnormal leukocyte count	10095	ARPC1B	OMIM:617718
HP:0011893	Abnormal leukocyte count	331	XIAP	OMIM:308240
HP:0011893	Abnormal leukocyte count	4068	SH2D1A	OMIM:308240
HP:0011893	Abnormal leukocyte count	9451	EIF2AK3	ORPHA:1667
HP:0011893	Abnormal leukocyte count	56244	BTNL2	ORPHA:797
HP:0011893	Abnormal leukocyte count	3123	HLA-DRB1	ORPHA:797
HP:0011893	Abnormal leukocyte count	3579	CXCR2	OMIM:619407
HP:0011893	Abnormal leukocyte count	987	LRBA	OMIM:614700
HP:0011893	Abnormal leukocyte count	51645	PPIL1	OMIM:619301
HP:0011893	Abnormal leukocyte count	51362	CDC40	OMIM:619302
HP:0011893	Abnormal leukocyte count	2542	SLC37A4	ORPHA:79259
HP:0011893	Abnormal leukocyte count	9158	FIBP	OMIM:617107
HP:0011893	Abnormal leukocyte count	9158	FIBP	ORPHA:500095
HP:0011893	Abnormal leukocyte count	6688	SPI1	OMIM:619707
HP:0011893	Abnormal leukocyte count	51135	IRAK4	OMIM:607676
HP:0011893	Abnormal leukocyte count	134218	DNAJC21	ORPHA:811
HP:0011893	Abnormal leukocyte count	79631	EFL1	ORPHA:811
HP:0011893	Abnormal leukocyte count	51119	SBDS	ORPHA:811
HP:0011893	Abnormal leukocyte count	6729	SRP54	ORPHA:811
HP:0011893	Abnormal leukocyte count	81570	CLPB	ORPHA:445038
HP:0011893	Abnormal leukocyte count	50485	SMARCAL1	ORPHA:1830
HP:0011893	Abnormal leukocyte count	5295	PIK3R1	OMIM:616005
HP:0011893	Abnormal leukocyte count	8915	BCL10	OMIM:616098
HP:0011893	Abnormal leukocyte count	6929	TCF3	OMIM:619824
HP:0011893	Abnormal leukocyte count	27040	LAT	OMIM:617514
HP:0011893	Abnormal leukocyte count	3978	LIG1	OMIM:619774
HP:0011893	Abnormal leukocyte count	1503	CTPS1	OMIM:615897
HP:0008897	Postnatal growth retardation	6775	STAT4	ORPHA:85408
HP:0008897	Postnatal growth retardation	3560	IL2RB	ORPHA:85408
HP:0008897	Postnatal growth retardation	79722	ANKRD55	ORPHA:85408
HP:0008897	Postnatal growth retardation	26191	PTPN22	ORPHA:85408
HP:0008897	Postnatal growth retardation	919	CD247	ORPHA:85408
HP:0008897	Postnatal growth retardation	3559	IL2RA	ORPHA:85408
HP:0008897	Postnatal growth retardation	5771	PTPN2	ORPHA:85408
HP:0008897	Postnatal growth retardation	51651	PTRH2	ORPHA:456312
HP:0008897	Postnatal growth retardation	146059	CDAN1	OMIM:224120
HP:0008897	Postnatal growth retardation	1161	ERCC8	ORPHA:90324
HP:0008897	Postnatal growth retardation	2074	ERCC6	ORPHA:90324
HP:0008897	Postnatal growth retardation	9508	ADAMTS3	ORPHA:2136
HP:0008897	Postnatal growth retardation	147372	CCBE1	ORPHA:2136
HP:0008897	Postnatal growth retardation	147372	CCBE1	OMIM:235510
HP:0008897	Postnatal growth retardation	79633	FAT4	ORPHA:2136
HP:0008897	Postnatal growth retardation	3483	IGFALS	OMIM:615961
HP:0008897	Postnatal growth retardation	5573	PRKAR1A	OMIM:101800
HP:0008897	Postnatal growth retardation	23476	BRD4	ORPHA:199
HP:0008897	Postnatal growth retardation	9126	SMC3	ORPHA:199
HP:0008897	Postnatal growth retardation	8243	SMC1A	ORPHA:199
HP:0008897	Postnatal growth retardation	25836	NIPBL	ORPHA:199
HP:0008897	Postnatal growth retardation	55869	HDAC8	ORPHA:199
HP:0008897	Postnatal growth retardation	5885	RAD21	ORPHA:199
HP:0008897	Postnatal growth retardation	3479	IGF1	ORPHA:73272
HP:0008897	Postnatal growth retardation	2625	GATA3	ORPHA:2237
HP:0008897	Postnatal growth retardation	100151683	RNU4ATAC	OMIM:210710
HP:0008897	Postnatal growth retardation	89884	LHX4	OMIM:262700
HP:0008897	Postnatal growth retardation	5449	POU1F1	OMIM:613038
HP:0008897	Postnatal growth retardation	5557	PRIM1	OMIM:620005
HP:0008897	Postnatal growth retardation	6261	RYR1	ORPHA:98905
HP:0008897	Postnatal growth retardation	3643	INSR	ORPHA:769
HP:0008897	Postnatal growth retardation	51199	NIN	ORPHA:319675
HP:0008897	Postnatal growth retardation	641	BLM	ORPHA:125
HP:0008897	Postnatal growth retardation	6134	RPL10	ORPHA:435938
HP:0008897	Postnatal growth retardation	7466	WFS1	ORPHA:411590
HP:0008897	Postnatal growth retardation	10436	EMG1	ORPHA:1270
HP:0008897	Postnatal growth retardation	10682	EBP	ORPHA:35173
HP:0008897	Postnatal growth retardation	128637	TBC1D20	OMIM:615663
HP:0008897	Postnatal growth retardation	23729	SHPK	ORPHA:440713
HP:0008897	Postnatal growth retardation	53834	FGFRL1	OMIM:194190
HP:0008897	Postnatal growth retardation	1487	CTBP1	OMIM:194190
HP:0008897	Postnatal growth retardation	3954	LETM1	OMIM:194190
HP:0008897	Postnatal growth retardation	7468	NSD2	OMIM:194190
HP:0008897	Postnatal growth retardation	10815	CPLX1	OMIM:194190
HP:0008897	Postnatal growth retardation	93587	TRMT10A	ORPHA:391408
HP:0008897	Postnatal growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0008897	Postnatal growth retardation	79158	GNPTAB	OMIM:252500
HP:0008897	Postnatal growth retardation	7252	TSHB	OMIM:275100
HP:0008897	Postnatal growth retardation	6524	SLC5A2	ORPHA:69076
HP:0008897	Postnatal growth retardation	3763	KCNJ6	ORPHA:435628
HP:0008897	Postnatal growth retardation	3376	IARS1	OMIM:617093
HP:0008897	Postnatal growth retardation	340533	NEXMIF	OMIM:300912
HP:0008897	Postnatal growth retardation	5723	PSPH	OMIM:614023
HP:0008897	Postnatal growth retardation	5723	PSPH	ORPHA:79350
HP:0008897	Postnatal growth retardation	6777	STAT5B	OMIM:618985
HP:0008897	Postnatal growth retardation	775	CACNA1C	OMIM:620029
HP:0008897	Postnatal growth retardation	54820	NDE1	ORPHA:2177
HP:0008897	Postnatal growth retardation	145173	B3GLCT	ORPHA:709
HP:0008897	Postnatal growth retardation	145173	B3GLCT	OMIM:261540
HP:0008897	Postnatal growth retardation	55325	UFSP2	OMIM:620028
HP:0008897	Postnatal growth retardation	2072	ERCC4	ORPHA:90321
HP:0008897	Postnatal growth retardation	6718	AKR1D1	ORPHA:79303
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:231140
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:231144
HP:0008897	Postnatal growth retardation	3481	IGF2	OMIM:616489
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:397590
HP:0008897	Postnatal growth retardation	283120	H19	ORPHA:231140
HP:0008897	Postnatal growth retardation	283120	H19	ORPHA:231144
HP:0008897	Postnatal growth retardation	2767	GNA11	OMIM:615361
HP:0008897	Postnatal growth retardation	374654	KIF7	OMIM:200990
HP:0008897	Postnatal growth retardation	1723	DHODH	OMIM:263750
HP:0008897	Postnatal growth retardation	4552	MTRR	ORPHA:2169
HP:0008897	Postnatal growth retardation	6595	SMARCA2	ORPHA:2728
HP:0008897	Postnatal growth retardation	4000	LMNA	OMIM:248370
HP:0008897	Postnatal growth retardation	2693	GHSR	OMIM:615925
HP:0008897	Postnatal growth retardation	55636	CHD7	ORPHA:138
HP:0008897	Postnatal growth retardation	55636	CHD7	OMIM:214800
HP:0008897	Postnatal growth retardation	9723	SEMA3E	ORPHA:138
HP:0008897	Postnatal growth retardation	9382	COG1	OMIM:611209
HP:0008897	Postnatal growth retardation	9382	COG1	ORPHA:263508
HP:0008897	Postnatal growth retardation	56992	KIF15	ORPHA:261323
HP:0008897	Postnatal growth retardation	57492	ARID1B	OMIM:135900
HP:0008897	Postnatal growth retardation	57492	ARID1B	ORPHA:1465
HP:0008897	Postnatal growth retardation	284058	KANSL1	ORPHA:363958
HP:0008897	Postnatal growth retardation	284058	KANSL1	ORPHA:363965
HP:0008897	Postnatal growth retardation	23545	ATP6V0A2	ORPHA:2834
HP:0008897	Postnatal growth retardation	23545	ATP6V0A2	ORPHA:357074
HP:0008897	Postnatal growth retardation	10381	TUBB3	ORPHA:300570
HP:0008897	Postnatal growth retardation	3117	HLA-DQA1	OMIM:212750
HP:0008897	Postnatal growth retardation	3119	HLA-DQB1	OMIM:212750
HP:0008897	Postnatal growth retardation	2035	EPB41	ORPHA:288
HP:0008897	Postnatal growth retardation	2995	GYPC	ORPHA:288
HP:0008897	Postnatal growth retardation	6710	SPTB	ORPHA:288
HP:0008897	Postnatal growth retardation	6708	SPTA1	ORPHA:288
HP:0008897	Postnatal growth retardation	7020	TFAP2A	OMIM:113620
HP:0008897	Postnatal growth retardation	222663	SCUBE3	OMIM:619184
HP:0008897	Postnatal growth retardation	6872	TAF1	ORPHA:480907
HP:0008897	Postnatal growth retardation	6872	TAF1	OMIM:300966
HP:0008897	Postnatal growth retardation	9896	FIG4	ORPHA:3472
HP:0008897	Postnatal growth retardation	55697	VAC14	ORPHA:3472
HP:0008897	Postnatal growth retardation	1105	CHD1	OMIM:617682
HP:0008897	Postnatal growth retardation	1105	CHD1	ORPHA:529965
HP:0008897	Postnatal growth retardation	4297	KMT2A	ORPHA:319182
HP:0008897	Postnatal growth retardation	4297	KMT2A	OMIM:605130
HP:0008897	Postnatal growth retardation	23312	DMXL2	OMIM:616113
HP:0008897	Postnatal growth retardation	23312	DMXL2	ORPHA:453533
HP:0008897	Postnatal growth retardation	790955	UQCC3	OMIM:616111
HP:0008897	Postnatal growth retardation	6399	TRAPPC2	OMIM:313400
HP:0008897	Postnatal growth retardation	57167	SALL4	ORPHA:959
HP:0008897	Postnatal growth retardation	1028	CDKN1C	OMIM:614732
HP:0008897	Postnatal growth retardation	1028	CDKN1C	ORPHA:397590
HP:0008897	Postnatal growth retardation	26057	ANKRD17	OMIM:619504
HP:0008897	Postnatal growth retardation	26040	SETBP1	OMIM:269150
HP:0008897	Postnatal growth retardation	4247	MGAT2	OMIM:212066
HP:0008897	Postnatal growth retardation	1499	CTNNB1	ORPHA:54595
HP:0008897	Postnatal growth retardation	673	BRAF	ORPHA:54595
HP:0008897	Postnatal growth retardation	673	BRAF	OMIM:163950
HP:0008897	Postnatal growth retardation	3981	LIG4	ORPHA:235
HP:0008897	Postnatal growth retardation	54888	NSUN2	ORPHA:235
HP:0008897	Postnatal growth retardation	54888	NSUN2	OMIM:611091
HP:0008897	Postnatal growth retardation	10804	GJB6	ORPHA:477
HP:0008897	Postnatal growth retardation	2706	GJB2	ORPHA:477
HP:0008897	Postnatal growth retardation	6905	TBCE	OMIM:241410
HP:0008897	Postnatal growth retardation	6905	TBCE	ORPHA:2323
HP:0008897	Postnatal growth retardation	6905	TBCE	ORPHA:93324
HP:0008897	Postnatal growth retardation	1594	CYP27B1	ORPHA:289157
HP:0008897	Postnatal growth retardation	120227	CYP2R1	ORPHA:289157
HP:0008897	Postnatal growth retardation	8558	CDK10	OMIM:617694
HP:0008897	Postnatal growth retardation	5836	PYGL	OMIM:232700
HP:0008897	Postnatal growth retardation	150468	CKAP2L	OMIM:272440
HP:0008897	Postnatal growth retardation	23345	SYNE1	ORPHA:319332
HP:0008897	Postnatal growth retardation	54499	TMCO1	OMIM:213980
HP:0008897	Postnatal growth retardation	4952	OCRL	OMIM:309000
HP:0008897	Postnatal growth retardation	157570	ESCO2	ORPHA:3103
HP:0008897	Postnatal growth retardation	157570	ESCO2	OMIM:268300
HP:0008897	Postnatal growth retardation	415	ARSL	ORPHA:79345
HP:0008897	Postnatal growth retardation	78989	COLEC11	OMIM:265050
HP:0008897	Postnatal growth retardation	78989	COLEC11	ORPHA:293843
HP:0008897	Postnatal growth retardation	4094	MAF	ORPHA:1272
HP:0008897	Postnatal growth retardation	5324	PLAG1	ORPHA:397590
HP:0008897	Postnatal growth retardation	8091	HMGA2	ORPHA:397590
HP:0008897	Postnatal growth retardation	79728	PALB2	OMIM:610832
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:96334
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254531
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254534
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254525
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254528
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:96184
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:96334
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254531
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254534
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254525
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254528
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:96184
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:96334
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254531
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254534
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254525
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254528
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:96184
HP:0008897	Postnatal growth retardation	9338	TCEAL1	OMIM:301094
HP:0008897	Postnatal growth retardation	2316	FLNA	OMIM:304120
HP:0008897	Postnatal growth retardation	91949	COG7	ORPHA:79333
HP:0008897	Postnatal growth retardation	23314	SATB2	ORPHA:576283
HP:0008897	Postnatal growth retardation	23314	SATB2	ORPHA:251028
HP:0008897	Postnatal growth retardation	57724	EPG5	OMIM:242840
HP:0008897	Postnatal growth retardation	63895	PIEZO2	OMIM:248700
HP:0008897	Postnatal growth retardation	23483	TGDS	OMIM:616145
HP:0008897	Postnatal growth retardation	2006	ELN	ORPHA:90348
HP:0008897	Postnatal growth retardation	10516	FBLN5	ORPHA:90348
HP:0008897	Postnatal growth retardation	5832	ALDH18A1	ORPHA:90348
HP:0008897	Postnatal growth retardation	5832	ALDH18A1	OMIM:616603
HP:0008897	Postnatal growth retardation	51574	LARP7	ORPHA:319671
HP:0008897	Postnatal growth retardation	701	BUB1B	OMIM:257300
HP:0008897	Postnatal growth retardation	867	CBL	OMIM:613563
HP:0008897	Postnatal growth retardation	51025	PAM16	OMIM:613320
HP:0008897	Postnatal growth retardation	8260	NAA10	ORPHA:276432
HP:0008897	Postnatal growth retardation	8260	NAA10	OMIM:300855
HP:0008897	Postnatal growth retardation	51750	RTEL1	OMIM:615190
HP:0008897	Postnatal growth retardation	5648	MASP1	OMIM:257920
HP:0008897	Postnatal growth retardation	5648	MASP1	ORPHA:293843
HP:0008897	Postnatal growth retardation	8573	CASK	OMIM:300749
HP:0008897	Postnatal growth retardation	546	ATRX	OMIM:301040
HP:0008897	Postnatal growth retardation	4173	MCM4	OMIM:609981
HP:0008897	Postnatal growth retardation	6514	SLC2A2	OMIM:227810
HP:0008897	Postnatal growth retardation	9871	SEC24D	OMIM:616294
HP:0008897	Postnatal growth retardation	10229	COQ7	OMIM:616733
HP:0008897	Postnatal growth retardation	83990	BRIP1	OMIM:609054
HP:0008897	Postnatal growth retardation	131118	DNAJC19	OMIM:610198
HP:0008897	Postnatal growth retardation	55784	MCTP2	ORPHA:1596
HP:0008897	Postnatal growth retardation	2033	EP300	ORPHA:353284
HP:0008897	Postnatal growth retardation	2033	EP300	OMIM:180849
HP:0008897	Postnatal growth retardation	9837	GINS1	OMIM:617827
HP:0008897	Postnatal growth retardation	54808	DYM	OMIM:223800
HP:0008897	Postnatal growth retardation	473	RERE	ORPHA:494344
HP:0008897	Postnatal growth retardation	55777	MBD5	OMIM:156200
HP:0008897	Postnatal growth retardation	4621	MYH3	OMIM:193700
HP:0008897	Postnatal growth retardation	6597	SMARCA4	ORPHA:1465
HP:0008897	Postnatal growth retardation	6598	SMARCB1	ORPHA:1465
HP:0008897	Postnatal growth retardation	6659	SOX4	ORPHA:1465
HP:0008897	Postnatal growth retardation	8289	ARID1A	ORPHA:1465
HP:0008897	Postnatal growth retardation	5977	DPF2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6601	SMARCC2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6602	SMARCD1	ORPHA:1465
HP:0008897	Postnatal growth retardation	196528	ARID2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6605	SMARCE1	ORPHA:1465
HP:0008897	Postnatal growth retardation	6664	SOX11	ORPHA:1465
HP:0008897	Postnatal growth retardation	64131	XYLT1	OMIM:615777
HP:0008897	Postnatal growth retardation	5257	PHKB	ORPHA:79240
HP:0008897	Postnatal growth retardation	9820	CUL7	OMIM:273750
HP:0008897	Postnatal growth retardation	259232	NALCN	OMIM:615419
HP:0008897	Postnatal growth retardation	25942	SIN3A	ORPHA:94065
HP:0008897	Postnatal growth retardation	1641	DCX	OMIM:300067
HP:0008897	Postnatal growth retardation	9509	ADAMTS2	OMIM:225410
HP:0008897	Postnatal growth retardation	7403	KDM6A	OMIM:300867
HP:0008897	Postnatal growth retardation	7403	KDM6A	OMIM:147920
HP:0008897	Postnatal growth retardation	8985	PLOD3	OMIM:612394
HP:0008897	Postnatal growth retardation	5144	PDE4D	ORPHA:439822
HP:0008897	Postnatal growth retardation	545	ATR	OMIM:210600
HP:0008897	Postnatal growth retardation	5116	PCNT	OMIM:210720
HP:0008897	Postnatal growth retardation	4990	SIX6	OMIM:206900
HP:0008897	Postnatal growth retardation	6657	SOX2	OMIM:206900
HP:0008897	Postnatal growth retardation	8883	NAE1	OMIM:620210
HP:0008897	Postnatal growth retardation	60	ACTB	OMIM:243310
HP:0008897	Postnatal growth retardation	6628	SNRPB	OMIM:117650
HP:0008897	Postnatal growth retardation	57061	HYMAI	ORPHA:96191
HP:0008897	Postnatal growth retardation	5325	PLAGL1	ORPHA:96191
HP:0008897	Postnatal growth retardation	1387	CREBBP	OMIM:180849
HP:0008897	Postnatal growth retardation	1387	CREBBP	ORPHA:353277
HP:0008897	Postnatal growth retardation	25782	RAB3GAP2	OMIM:614225
HP:0008897	Postnatal growth retardation	22931	RAB18	OMIM:614222
HP:0008897	Postnatal growth retardation	998	CDC42	ORPHA:487796
HP:0008897	Postnatal growth retardation	54796	BNC2	ORPHA:93110
HP:0008897	Postnatal growth retardation	6513	SLC2A1	ORPHA:168577
HP:0008897	Postnatal growth retardation	84665	MYPN	ORPHA:75249
HP:0008897	Postnatal growth retardation	2318	FLNC	ORPHA:75249
HP:0008897	Postnatal growth retardation	7139	TNNT2	ORPHA:75249
HP:0008897	Postnatal growth retardation	7137	TNNI3	ORPHA:75249
HP:0008897	Postnatal growth retardation	10112	KIF20A	ORPHA:75249
HP:0008897	Postnatal growth retardation	6925	TCF4	ORPHA:2896
HP:0008897	Postnatal growth retardation	2887	GRB10	ORPHA:96182
HP:0008897	Postnatal growth retardation	25839	COG4	OMIM:618150
HP:0008897	Postnatal growth retardation	2760	GM2A	ORPHA:309246
HP:0008897	Postnatal growth retardation	60676	PAPPA2	OMIM:619489
HP:0008897	Postnatal growth retardation	10651	MTX2	OMIM:619127
HP:0008897	Postnatal growth retardation	28952	CCDC22	OMIM:300963
HP:0008897	Postnatal growth retardation	28952	CCDC22	ORPHA:7
HP:0008897	Postnatal growth retardation	60528	ELAC2	OMIM:615440
HP:0008897	Postnatal growth retardation	5261	PHKG2	OMIM:613027
HP:0008897	Postnatal growth retardation	64093	SMOC1	OMIM:206920
HP:0008897	Postnatal growth retardation	118924	FRA10AC1	OMIM:620113
HP:0008897	Postnatal growth retardation	5456	POU3F4	ORPHA:1435
HP:0008897	Postnatal growth retardation	55599	RNPC3	OMIM:618160
HP:0008897	Postnatal growth retardation	126792	B3GALT6	ORPHA:536467
HP:0008897	Postnatal growth retardation	57020	VPS35L	OMIM:619135
HP:0008897	Postnatal growth retardation	523	ATP6V1A	ORPHA:357074
HP:0008897	Postnatal growth retardation	529	ATP6V1E1	ORPHA:357074
HP:0008897	Postnatal growth retardation	1663	DDX11	OMIM:613398
HP:0008897	Postnatal growth retardation	2990	GUSB	OMIM:253220
HP:0008897	Postnatal growth retardation	6137	RPL13	OMIM:618728
HP:0008897	Postnatal growth retardation	383	ARG1	OMIM:207800
HP:0008897	Postnatal growth retardation	51594	NBAS	OMIM:614800
HP:0008897	Postnatal growth retardation	10584	COLEC10	ORPHA:293843
HP:0008897	Postnatal growth retardation	6522	SLC4A2	OMIM:620366
HP:0008897	Postnatal growth retardation	1585	CYP11B2	ORPHA:556030
HP:0008897	Postnatal growth retardation	10079	ATP9A	OMIM:620242
HP:0008897	Postnatal growth retardation	9897	WASHC5	ORPHA:7
HP:0008897	Postnatal growth retardation	80169	CTC1	OMIM:612199
HP:0008897	Postnatal growth retardation	5130	PCYT1A	OMIM:608940
HP:0008897	Postnatal growth retardation	63901	FAM111A	ORPHA:93325
HP:0008897	Postnatal growth retardation	5604	MAP2K1	OMIM:163950
HP:0008897	Postnatal growth retardation	5781	PTPN11	OMIM:163950
HP:0008897	Postnatal growth retardation	8085	KMT2D	OMIM:147920
HP:0001680	Coarctation of aorta	2737	GLI3	ORPHA:672
HP:0001680	Coarctation of aorta	22827	PUF60	ORPHA:508498
HP:0001680	Coarctation of aorta	22827	PUF60	ORPHA:508488
HP:0001680	Coarctation of aorta	10128	LRPPRC	OMIM:220111
HP:0001680	Coarctation of aorta	2294	FOXF1	OMIM:265380
HP:0001680	Coarctation of aorta	8216	LZTR1	OMIM:616564
HP:0001680	Coarctation of aorta	8216	LZTR1	OMIM:605275
HP:0001680	Coarctation of aorta	123606	NIPA1	ORPHA:261183
HP:0001680	Coarctation of aorta	7283	TUBG1	ORPHA:261183
HP:0001680	Coarctation of aorta	81614	NIPA2	ORPHA:261183
HP:0001680	Coarctation of aorta	2187	FANCB	OMIM:300514
HP:0001680	Coarctation of aorta	1024	CDK8	OMIM:618748
HP:0001680	Coarctation of aorta	100151683	RNU4ATAC	OMIM:210710
HP:0001680	Coarctation of aorta	132	ADK	OMIM:614300
HP:0001680	Coarctation of aorta	4091	SMAD6	OMIM:614823
HP:0001680	Coarctation of aorta	4091	SMAD6	ORPHA:402075
HP:0001680	Coarctation of aorta	2657	GDF1	OMIM:613854
HP:0001680	Coarctation of aorta	79813	EHMT1	ORPHA:96147
HP:0001680	Coarctation of aorta	10992	SF3B2	OMIM:164210
HP:0001680	Coarctation of aorta	4838	NODAL	OMIM:270100
HP:0001680	Coarctation of aorta	4838	NODAL	ORPHA:280195
HP:0001680	Coarctation of aorta	64220	STRA6	OMIM:601186
HP:0001680	Coarctation of aorta	6888	TALDO1	ORPHA:101028
HP:0001680	Coarctation of aorta	6888	TALDO1	OMIM:606003
HP:0001680	Coarctation of aorta	7707	ZNF148	OMIM:617260
HP:0001680	Coarctation of aorta	7490	WT1	ORPHA:3097
HP:0001680	Coarctation of aorta	7490	WT1	OMIM:608978
HP:0001680	Coarctation of aorta	10847	SRCAP	OMIM:136140
HP:0001680	Coarctation of aorta	10847	SRCAP	ORPHA:2044
HP:0001680	Coarctation of aorta	1387	CREBBP	ORPHA:353281
HP:0001680	Coarctation of aorta	1387	CREBBP	OMIM:180849
HP:0001680	Coarctation of aorta	1387	CREBBP	ORPHA:353277
HP:0001680	Coarctation of aorta	89910	UBE3B	OMIM:244450
HP:0001680	Coarctation of aorta	55784	MCTP2	ORPHA:1596
HP:0001680	Coarctation of aorta	8085	KMT2D	ORPHA:2322
HP:0001680	Coarctation of aorta	8085	KMT2D	OMIM:147920
HP:0001680	Coarctation of aorta	7403	KDM6A	ORPHA:2322
HP:0001680	Coarctation of aorta	7403	KDM6A	OMIM:300867
HP:0001680	Coarctation of aorta	7403	KDM6A	OMIM:147920
HP:0001680	Coarctation of aorta	2033	EP300	ORPHA:353284
HP:0001680	Coarctation of aorta	2033	EP300	OMIM:180849
HP:0001680	Coarctation of aorta	5053	PAH	ORPHA:2209
HP:0001680	Coarctation of aorta	7547	ZIC3	OMIM:306955
HP:0001680	Coarctation of aorta	10735	STAG2	OMIM:301022
HP:0001680	Coarctation of aorta	1956	EGFR	OMIM:616069
HP:0001680	Coarctation of aorta	146862	UNC45B	OMIM:619178
HP:0001680	Coarctation of aorta	9968	MED12	ORPHA:93932
HP:0001680	Coarctation of aorta	9968	MED12	OMIM:301068
HP:0001680	Coarctation of aorta	1108	CHD4	OMIM:617159
HP:0001680	Coarctation of aorta	7026	NR2F2	OMIM:615779
HP:0001680	Coarctation of aorta	2260	FGFR1	ORPHA:2396
HP:0001680	Coarctation of aorta	3845	KRAS	ORPHA:2396
HP:0001680	Coarctation of aorta	3845	KRAS	OMIM:163200
HP:0001680	Coarctation of aorta	3845	KRAS	OMIM:600268
HP:0001680	Coarctation of aorta	51057	WDPCP	OMIM:217085
HP:0001680	Coarctation of aorta	1000	CDH2	OMIM:618929
HP:0001680	Coarctation of aorta	4313	MMP2	ORPHA:371428
HP:0001680	Coarctation of aorta	4323	MMP14	ORPHA:371428
HP:0001680	Coarctation of aorta	1717	DHCR7	OMIM:270400
HP:0001680	Coarctation of aorta	9839	ZEB2	ORPHA:261552
HP:0001680	Coarctation of aorta	9839	ZEB2	ORPHA:261537
HP:0001680	Coarctation of aorta	9184	BUB3	ORPHA:1052
HP:0001680	Coarctation of aorta	699	BUB1	ORPHA:1052
HP:0001680	Coarctation of aorta	9702	CEP57	ORPHA:1052
HP:0001680	Coarctation of aorta	9702	CEP57	OMIM:614114
HP:0001680	Coarctation of aorta	9319	TRIP13	ORPHA:1052
HP:0001680	Coarctation of aorta	701	BUB1B	ORPHA:1052
HP:0001680	Coarctation of aorta	5745	PTH1R	ORPHA:50945
HP:0001680	Coarctation of aorta	4212	MEIS2	OMIM:600987
HP:0001680	Coarctation of aorta	8802	SUCLG1	ORPHA:17
HP:0001680	Coarctation of aorta	1822	ATN1	OMIM:618494
HP:0001680	Coarctation of aorta	25	ABL1	OMIM:617602
HP:0001680	Coarctation of aorta	139285	AMER1	ORPHA:2780
HP:0001680	Coarctation of aorta	55644	OSGEP	OMIM:617729
HP:0001680	Coarctation of aorta	5826	ABCD4	OMIM:614857
HP:0001680	Coarctation of aorta	8883	NAE1	OMIM:620210
HP:0001680	Coarctation of aorta	2313	FLI1	ORPHA:2308
HP:0001680	Coarctation of aorta	4763	NF1	ORPHA:97685
HP:0001680	Coarctation of aorta	10664	CTCF	ORPHA:363611
HP:0001680	Coarctation of aorta	10664	CTCF	OMIM:615502
HP:0001680	Coarctation of aorta	65250	CPLANE1	OMIM:277170
HP:0001680	Coarctation of aorta	4893	NRAS	OMIM:163200
HP:0001680	Coarctation of aorta	3265	HRAS	OMIM:163200
HP:0001680	Coarctation of aorta	83475	DOHH	OMIM:620066
HP:0001680	Coarctation of aorta	11198	SUPT16H	OMIM:619480
HP:0001680	Coarctation of aorta	4089	SMAD4	OMIM:139210
HP:0001680	Coarctation of aorta	28514	DLL1	ORPHA:280195
HP:0001680	Coarctation of aorta	2253	FGF8	ORPHA:280195
HP:0001680	Coarctation of aorta	6496	SIX3	ORPHA:280195
HP:0001680	Coarctation of aorta	7050	TGIF1	ORPHA:280195
HP:0001680	Coarctation of aorta	6469	SHH	ORPHA:280195
HP:0001680	Coarctation of aorta	7546	ZIC2	ORPHA:280195
HP:0001680	Coarctation of aorta	6491	STIL	ORPHA:280195
HP:0001680	Coarctation of aorta	2619	GAS1	ORPHA:280195
HP:0001680	Coarctation of aorta	84976	DISP1	ORPHA:280195
HP:0001680	Coarctation of aorta	2736	GLI2	ORPHA:280195
HP:0001680	Coarctation of aorta	8928	FOXH1	ORPHA:280195
HP:0001680	Coarctation of aorta	5727	PTCH1	ORPHA:280195
HP:0001680	Coarctation of aorta	50937	CDON	ORPHA:280195
HP:0001680	Coarctation of aorta	57057	TBX20	OMIM:611363
HP:0001680	Coarctation of aorta	5500	PPP1CB	OMIM:617506
HP:0001680	Coarctation of aorta	182	JAG1	OMIM:118450
HP:0001680	Coarctation of aorta	4625	MYH7	OMIM:613426
HP:0001680	Coarctation of aorta	4851	NOTCH1	ORPHA:402075
HP:0001680	Coarctation of aorta	1482	NKX2-5	ORPHA:402075
HP:0001680	Coarctation of aorta	1482	NKX2-5	OMIM:217095
HP:0001680	Coarctation of aorta	140628	GATA5	ORPHA:402075
HP:0001680	Coarctation of aorta	137814	NKX2-6	OMIM:217095
HP:0001680	Coarctation of aorta	6899	TBX1	OMIM:217095
HP:0001680	Coarctation of aorta	2627	GATA6	OMIM:217095
HP:0001680	Coarctation of aorta	51322	WAC	ORPHA:284169
HP:0001680	Coarctation of aorta	84231	TRAF7	OMIM:618164
HP:0001680	Coarctation of aorta	23483	TGDS	OMIM:616145
HP:0001680	Coarctation of aorta	2006	ELN	ORPHA:90348
HP:0001680	Coarctation of aorta	10516	FBLN5	ORPHA:90348
HP:0001680	Coarctation of aorta	5832	ALDH18A1	ORPHA:90348
HP:0001680	Coarctation of aorta	5236	PGM1	OMIM:614921
HP:0001680	Coarctation of aorta	9939	RBM8A	OMIM:274000
HP:0001680	Coarctation of aorta	6223	RPS19	OMIM:105650
HP:0001680	Coarctation of aorta	6223	RPS19	ORPHA:124
HP:0001680	Coarctation of aorta	6135	RPL11	ORPHA:124
HP:0001680	Coarctation of aorta	6138	RPL15	ORPHA:124
HP:0001680	Coarctation of aorta	6229	RPS24	ORPHA:124
HP:0001680	Coarctation of aorta	6125	RPL5	ORPHA:124
HP:0001680	Coarctation of aorta	6204	RPS10	ORPHA:124
HP:0001680	Coarctation of aorta	6224	RPS20	ORPHA:124
HP:0001680	Coarctation of aorta	6165	RPL35A	ORPHA:124
HP:0001680	Coarctation of aorta	2623	GATA1	ORPHA:124
HP:0001680	Coarctation of aorta	6232	RPS27	ORPHA:124
HP:0001680	Coarctation of aorta	6231	RPS26	ORPHA:124
HP:0001680	Coarctation of aorta	11224	RPL35	ORPHA:124
HP:0001680	Coarctation of aorta	6160	RPL31	ORPHA:124
HP:0001680	Coarctation of aorta	6218	RPS17	ORPHA:124
HP:0001680	Coarctation of aorta	6201	RPS7	ORPHA:124
HP:0001680	Coarctation of aorta	6155	RPL27	ORPHA:124
HP:0001680	Coarctation of aorta	6154	RPL26	ORPHA:124
HP:0001680	Coarctation of aorta	6210	RPS15A	ORPHA:124
HP:0001680	Coarctation of aorta	90121	TSR2	ORPHA:124
HP:0001680	Coarctation of aorta	6141	RPL18	ORPHA:124
HP:0001680	Coarctation of aorta	6235	RPS29	ORPHA:124
HP:0001680	Coarctation of aorta	6234	RPS28	ORPHA:124
HP:0001680	Coarctation of aorta	51816	ADA2	ORPHA:124
HP:0001680	Coarctation of aorta	6595	SMARCA2	OMIM:601358
HP:0001680	Coarctation of aorta	51626	DYNC2LI1	OMIM:617088
HP:0001680	Coarctation of aorta	8295	TRRAP	OMIM:618454
HP:0001680	Coarctation of aorta	54903	MKS1	OMIM:249000
HP:0001680	Coarctation of aorta	2702	GJA5	OMIM:612474
HP:0001680	Coarctation of aorta	2703	GJA8	OMIM:612474
HP:0001680	Coarctation of aorta	4281	MID1	ORPHA:2745
HP:0001680	Coarctation of aorta	6736	SRY	ORPHA:1772
HP:0001680	Coarctation of aorta	6655	SOS2	OMIM:616559
HP:0001680	Coarctation of aorta	100128908	CIROP	OMIM:619702
HP:0001680	Coarctation of aorta	9894	TELO2	OMIM:616954
HP:0001680	Coarctation of aorta	5604	MAP2K1	OMIM:163950
HP:0001680	Coarctation of aorta	5781	PTPN11	OMIM:163950
HP:0001680	Coarctation of aorta	673	BRAF	OMIM:163950
HP:0001680	Coarctation of aorta	10195	ALG3	ORPHA:79321
HP:0001681	Angina pectoris	3949	LDLR	ORPHA:391665
HP:0001681	Angina pectoris	255738	PCSK9	ORPHA:391665
HP:0001681	Angina pectoris	26119	LDLRAP1	ORPHA:391665
HP:0001681	Angina pectoris	338	APOB	ORPHA:391665
HP:0001681	Angina pectoris	64240	ABCG5	ORPHA:391665
HP:0001681	Angina pectoris	64241	ABCG8	ORPHA:391665
HP:0001681	Angina pectoris	5373	PMM2	ORPHA:79318
HP:0001681	Angina pectoris	2717	GLA	OMIM:301500
HP:0001681	Angina pectoris	2717	GLA	ORPHA:324
HP:0001681	Angina pectoris	79572	ATP13A3	OMIM:265400
HP:0001681	Angina pectoris	57158	JPH2	OMIM:613873
HP:0001681	Angina pectoris	3990	LIPC	OMIM:614025
HP:0001681	Angina pectoris	3990	LIPC	ORPHA:140905
HP:0001681	Angina pectoris	4352	MPL	ORPHA:729
HP:0001681	Angina pectoris	3717	JAK2	ORPHA:729
HP:0001681	Angina pectoris	54790	TET2	ORPHA:729
HP:0001681	Angina pectoris	1593	CYP27A1	OMIM:213700
HP:0001681	Angina pectoris	7139	TNNT2	OMIM:115195
HP:0001681	Angina pectoris	5728	PTEN	ORPHA:109
HP:0001681	Angina pectoris	1493	CTLA4	ORPHA:900
HP:0001681	Angina pectoris	26191	PTPN22	ORPHA:900
HP:0001681	Angina pectoris	3115	HLA-DPB1	ORPHA:900
HP:0001681	Angina pectoris	5657	PRTN3	ORPHA:900
HP:0001681	Angina pectoris	3113	HLA-DPA1	ORPHA:900
HP:0001681	Angina pectoris	4000	LMNA	OMIM:176670
HP:0001681	Angina pectoris	4000	LMNA	ORPHA:740
HP:0001681	Angina pectoris	3425	IDUA	ORPHA:93473
HP:0001681	Angina pectoris	335	APOA1	ORPHA:425
HP:0001681	Angina pectoris	19	ABCA1	ORPHA:425
HP:0001681	Angina pectoris	10269	ZMPSTE24	ORPHA:740
HP:0001681	Angina pectoris	57104	PNPLA2	ORPHA:565612
HP:0001681	Angina pectoris	368	ABCC6	OMIM:177850
HP:0001681	Angina pectoris	368	ABCC6	OMIM:264800
HP:0001681	Angina pectoris	368	ABCC6	ORPHA:758
HP:0001681	Angina pectoris	64131	XYLT1	OMIM:264800
HP:0001681	Angina pectoris	64132	XYLT2	OMIM:264800
HP:0001681	Angina pectoris	70	ACTC1	OMIM:612098
HP:0001681	Angina pectoris	7134	TNNC1	OMIM:613243
HP:0001681	Angina pectoris	7276	TTR	ORPHA:85451
HP:0001681	Angina pectoris	3931	LCAT	ORPHA:79292
HP:0001681	Angina pectoris	5167	ENPP1	ORPHA:758
HP:0001681	Angina pectoris	348	APOE	ORPHA:412
HP:0001682	Subvalvular aortic stenosis	9759	HDAC4	OMIM:600430
HP:0001682	Subvalvular aortic stenosis	7547	ZIC3	OMIM:306955
HP:0001682	Subvalvular aortic stenosis	64135	IFIH1	OMIM:182250
HP:0001682	Subvalvular aortic stenosis	9184	BUB3	ORPHA:1052
HP:0001682	Subvalvular aortic stenosis	699	BUB1	ORPHA:1052
HP:0001682	Subvalvular aortic stenosis	9702	CEP57	ORPHA:1052
HP:0001682	Subvalvular aortic stenosis	9702	CEP57	OMIM:614114
HP:0001682	Subvalvular aortic stenosis	9319	TRIP13	ORPHA:1052
HP:0001682	Subvalvular aortic stenosis	701	BUB1B	ORPHA:1052
HP:0001682	Subvalvular aortic stenosis	4624	MYH6	OMIM:192600
HP:0001682	Subvalvular aortic stenosis	4625	MYH7	OMIM:192600
HP:0001682	Subvalvular aortic stenosis	859	CAV3	OMIM:192600
HP:0001682	Subvalvular aortic stenosis	85366	MYLK2	OMIM:192600
HP:0001682	Subvalvular aortic stenosis	5781	PTPN11	OMIM:151100
HP:0001682	Subvalvular aortic stenosis	127833	SYT2	OMIM:619461
HP:0001682	Subvalvular aortic stenosis	23118	TAB2	OMIM:614980
HP:0001682	Subvalvular aortic stenosis	54914	FOCAD	OMIM:619991
HP:0001682	Subvalvular aortic stenosis	2260	FGFR1	OMIM:613001
HP:0001682	Subvalvular aortic stenosis	9487	PIGL	OMIM:280000
HP:0001682	Subvalvular aortic stenosis	2783	GNB2	OMIM:619503
HP:0001682	Subvalvular aortic stenosis	1482	NKX2-5	OMIM:108900
HP:0001682	Subvalvular aortic stenosis	171019	ADAMTS19	OMIM:620067
HP:0001682	Subvalvular aortic stenosis	51057	WDPCP	OMIM:217085
HP:0001682	Subvalvular aortic stenosis	51057	WDPCP	ORPHA:1338
HP:0001684	Secundum atrial septal defect	699	BUB1	OMIM:620183
HP:0001684	Secundum atrial septal defect	91949	COG7	OMIM:608779
HP:0001684	Secundum atrial septal defect	8294	H4C9	OMIM:619951
HP:0001684	Secundum atrial septal defect	29081	METTL5	OMIM:618665
HP:0001684	Secundum atrial septal defect	7026	NR2F2	OMIM:618901
HP:0001684	Secundum atrial septal defect	6135	RPL11	OMIM:612562
HP:0001684	Secundum atrial septal defect	10765	KDM5B	OMIM:618109
HP:0001684	Secundum atrial septal defect	132	ADK	OMIM:614300
HP:0001684	Secundum atrial septal defect	5396	PRRX1	OMIM:202650
HP:0001684	Secundum atrial septal defect	490	ATP2B1	OMIM:619910
HP:0001684	Secundum atrial septal defect	2657	GDF1	OMIM:613854
HP:0001684	Secundum atrial septal defect	8364	H4C3	OMIM:619758
HP:0001684	Secundum atrial septal defect	1482	NKX2-5	OMIM:108900
HP:0001684	Secundum atrial septal defect	11128	POLR3A	OMIM:264090
HP:0001684	Secundum atrial septal defect	256297	PTF1A	OMIM:609069
HP:0001684	Secundum atrial septal defect	83475	DOHH	OMIM:620066
HP:0001684	Secundum atrial septal defect	55027	HEATR3	OMIM:620072
HP:0001684	Secundum atrial septal defect	79759	ZNF668	OMIM:620194
HP:0001684	Secundum atrial septal defect	285590	SH3PXD2B	OMIM:249420
HP:0001684	Secundum atrial septal defect	6472	SHMT2	OMIM:619121
HP:0001684	Secundum atrial septal defect	2627	GATA6	OMIM:614475
HP:0001684	Secundum atrial septal defect	80055	PGAP1	OMIM:615802
HP:0001684	Secundum atrial septal defect	471	ATIC	OMIM:608688
HP:0001684	Secundum atrial septal defect	3417	IDH1	ORPHA:99646
HP:0001684	Secundum atrial septal defect	4763	NF1	OMIM:601321
HP:0001684	Secundum atrial septal defect	79989	IFT56	OMIM:619534
HP:0001684	Secundum atrial septal defect	4624	MYH6	OMIM:614089
HP:0001684	Secundum atrial septal defect	8260	NAA10	OMIM:300855
HP:0001684	Secundum atrial septal defect	11274	USP18	OMIM:617397
HP:0001684	Secundum atrial septal defect	7994	KAT6A	OMIM:616268
HP:0001684	Secundum atrial septal defect	92579	G6PC3	OMIM:612541
HP:0001684	Secundum atrial septal defect	439	GET3	OMIM:620203
HP:0001684	Secundum atrial septal defect	9325	TRIP4	OMIM:616866
HP:0001684	Secundum atrial septal defect	10079	ATP9A	OMIM:620242
HP:0001684	Secundum atrial septal defect	6910	TBX5	OMIM:142900
HP:0001684	Secundum atrial septal defect	4212	MEIS2	OMIM:600987
HP:0001684	Secundum atrial septal defect	70	ACTC1	OMIM:612794
HP:0001684	Secundum atrial septal defect	55636	CHD7	OMIM:214800
HP:0001684	Secundum atrial septal defect	59336	PRDM13	OMIM:619909
HP:0001685	Myocardial fibrosis	5054	SERPINE1	ORPHA:465
HP:0001685	Myocardial fibrosis	7840	ALMS1	ORPHA:64
HP:0001685	Myocardial fibrosis	3920	LAMP2	OMIM:300257
HP:0001685	Myocardial fibrosis	4633	MYL2	OMIM:619424
HP:0001685	Myocardial fibrosis	27068	PPA2	OMIM:617223
HP:0001685	Myocardial fibrosis	27068	PPA2	OMIM:617222
HP:0001685	Myocardial fibrosis	4591	TRIM37	OMIM:253250
HP:0001685	Myocardial fibrosis	57158	JPH2	OMIM:613873
HP:0001685	Myocardial fibrosis	2218	FKTN	OMIM:253800
HP:0001685	Myocardial fibrosis	4000	LMNA	OMIM:181350
HP:0001685	Myocardial fibrosis	6123	RPL3L	OMIM:619371
HP:0001685	Myocardial fibrosis	70	ACTC1	OMIM:613424
HP:0001685	Myocardial fibrosis	4625	MYH7	OMIM:613426
HP:0001685	Myocardial fibrosis	84665	MYPN	ORPHA:75249
HP:0001685	Myocardial fibrosis	2318	FLNC	ORPHA:75249
HP:0001685	Myocardial fibrosis	7139	TNNT2	ORPHA:75249
HP:0001685	Myocardial fibrosis	7137	TNNI3	ORPHA:75249
HP:0001685	Myocardial fibrosis	10112	KIF20A	ORPHA:75249
HP:0001685	Myocardial fibrosis	22845	DOLK	ORPHA:91131
HP:0001686	Loss of voice	427	ASAH1	ORPHA:333
HP:0001686	Loss of voice	54949	SDHAF2	OMIM:601650
HP:0001686	Loss of voice	6392	SDHD	OMIM:168000
HP:0001686	Loss of voice	2512	FTL	ORPHA:157846
HP:0001686	Loss of voice	6389	SDHA	OMIM:619259
HP:0001686	Loss of voice	6391	SDHC	OMIM:605373
HP:0008848	Moderately short stature	1836	SLC26A2	ORPHA:93307
HP:0008848	Moderately short stature	85465	SELENOI	ORPHA:506353
HP:0008848	Moderately short stature	91252	SLC39A13	ORPHA:157965
HP:0008848	Moderately short stature	91252	SLC39A13	OMIM:612350
HP:0008848	Moderately short stature	860	RUNX2	OMIM:119600
HP:0008848	Moderately short stature	3239	HOXD13	OMIM:113300
HP:0008846	Severe intrauterine growth retardation	157570	ESCO2	OMIM:268300
HP:0008846	Severe intrauterine growth retardation	157570	ESCO2	ORPHA:3103
HP:0008846	Severe intrauterine growth retardation	3479	IGF1	ORPHA:73272
HP:0008846	Severe intrauterine growth retardation	2887	GRB10	ORPHA:96182
HP:0008846	Severe intrauterine growth retardation	9401	RECQL4	OMIM:218600
HP:0008846	Severe intrauterine growth retardation	197131	UBR1	OMIM:243800
HP:0008846	Severe intrauterine growth retardation	3481	IGF2	ORPHA:231144
HP:0008846	Severe intrauterine growth retardation	283120	H19	ORPHA:231144
HP:0008846	Severe intrauterine growth retardation	10436	EMG1	ORPHA:1270
HP:0008846	Severe intrauterine growth retardation	6905	TBCE	OMIM:241410
HP:0008846	Severe intrauterine growth retardation	6905	TBCE	ORPHA:2323
HP:0008846	Severe intrauterine growth retardation	9702	CEP57	OMIM:614114
HP:0008846	Severe intrauterine growth retardation	3643	INSR	ORPHA:508
HP:0008846	Severe intrauterine growth retardation	11128	POLR3A	ORPHA:3455
HP:0008846	Severe intrauterine growth retardation	51199	NIN	ORPHA:319675
HP:0008846	Severe intrauterine growth retardation	256297	PTF1A	OMIM:609069
HP:0008845	Mesomelic short stature	9321	TRIP11	OMIM:184260
HP:0008845	Mesomelic short stature	6473	SHOX	OMIM:249700
HP:0001692	Atrial arrhythmia	51086	TNNI3K	OMIM:616117
HP:0001692	Atrial arrhythmia	7276	TTR	ORPHA:85451
HP:0001692	Atrial arrhythmia	4878	NPPA	OMIM:615745
HP:0001692	Atrial arrhythmia	2010	EMD	OMIM:310300
HP:0001692	Atrial arrhythmia	3920	LAMP2	OMIM:300257
HP:0001692	Atrial arrhythmia	10370	CITED2	ORPHA:99105
HP:0001692	Atrial arrhythmia	1193	CLIC2	ORPHA:324410
HP:0001692	Atrial arrhythmia	3777	KCNK3	OMIM:615344
HP:0001692	Atrial arrhythmia	3762	KCNJ5	OMIM:613485
HP:0001692	Atrial arrhythmia	3759	KCNJ2	OMIM:613980
HP:0001692	Atrial arrhythmia	4635	MYL4	OMIM:617280
HP:0001692	Atrial arrhythmia	3784	KCNQ1	OMIM:607554
HP:0001692	Atrial arrhythmia	6331	SCN5A	OMIM:614022
HP:0001692	Atrial arrhythmia	2318	FLNC	OMIM:617047
HP:0001692	Atrial arrhythmia	9992	KCNE2	OMIM:611493
HP:0001692	Atrial arrhythmia	55800	SCN3B	OMIM:613120
HP:0001692	Atrial arrhythmia	3741	KCNA5	OMIM:612240
HP:0001692	Atrial arrhythmia	6910	TBX5	ORPHA:392
HP:0001692	Atrial arrhythmia	10060	ABCC9	OMIM:614050
HP:0001692	Atrial arrhythmia	2783	GNB2	OMIM:619464
HP:0001692	Atrial arrhythmia	6324	SCN1B	OMIM:615377
HP:0001692	Atrial arrhythmia	8048	CSRP3	OMIM:612124
HP:0001692	Atrial arrhythmia	6327	SCN2B	OMIM:615378
HP:0001692	Atrial arrhythmia	29967	LRP12	OMIM:164310
HP:0001692	Atrial arrhythmia	6262	RYR2	OMIM:604772
HP:0001692	Atrial arrhythmia	845	CASQ2	OMIM:604772
HP:0001692	Atrial arrhythmia	10345	TRDN	OMIM:604772
HP:0001692	Atrial arrhythmia	4088	SMAD3	ORPHA:284984
HP:0001692	Atrial arrhythmia	4088	SMAD3	OMIM:613795
HP:0001692	Atrial arrhythmia	291	SLC25A4	ORPHA:254892
HP:0001692	Atrial arrhythmia	5428	POLG	ORPHA:254892
HP:0001692	Atrial arrhythmia	56652	TWNK	ORPHA:254892
HP:0001692	Atrial arrhythmia	11232	POLG2	ORPHA:254892
HP:0001692	Atrial arrhythmia	50484	RRM2B	ORPHA:254892
HP:0001692	Atrial arrhythmia	7092	TLL1	ORPHA:99103
HP:0001692	Atrial arrhythmia	7092	TLL1	OMIM:613087
HP:0001692	Atrial arrhythmia	7092	TLL1	ORPHA:99106
HP:0001692	Atrial arrhythmia	57057	TBX20	ORPHA:99103
HP:0001692	Atrial arrhythmia	4624	MYH6	ORPHA:99103
HP:0001692	Atrial arrhythmia	1482	NKX2-5	ORPHA:99103
HP:0001692	Atrial arrhythmia	1482	NKX2-5	OMIM:108900
HP:0001692	Atrial arrhythmia	70	ACTC1	ORPHA:99103
HP:0001692	Atrial arrhythmia	2626	GATA4	ORPHA:99103
HP:0001692	Atrial arrhythmia	2627	GATA6	ORPHA:99103
HP:0001692	Atrial arrhythmia	151648	SGO1	OMIM:616201
HP:0001692	Atrial arrhythmia	23118	TAB2	OMIM:614980
HP:0001692	Atrial arrhythmia	7137	TNNI3	OMIM:613690
HP:0001692	Atrial arrhythmia	7137	TNNI3	ORPHA:75249
HP:0001692	Atrial arrhythmia	4000	LMNA	ORPHA:300751
HP:0001692	Atrial arrhythmia	4000	LMNA	OMIM:115200
HP:0001692	Atrial arrhythmia	51422	PRKAG2	OMIM:600858
HP:0001692	Atrial arrhythmia	8076	MFAP5	OMIM:616166
HP:0001692	Atrial arrhythmia	79188	TMEM43	OMIM:614302
HP:0001692	Atrial arrhythmia	5664	PSEN2	OMIM:613697
HP:0001692	Atrial arrhythmia	4519	MT-CYB	ORPHA:137675
HP:0001692	Atrial arrhythmia	4625	MYH7	ORPHA:1880
HP:0001692	Atrial arrhythmia	7139	TNNT2	OMIM:115195
HP:0001692	Atrial arrhythmia	7139	TNNT2	ORPHA:75249
HP:0001692	Atrial arrhythmia	7139	TNNT2	OMIM:601494
HP:0001692	Atrial arrhythmia	775	CACNA1C	OMIM:611875
HP:0001692	Atrial arrhythmia	783	CACNB2	OMIM:611876
HP:0001692	Atrial arrhythmia	84665	MYPN	ORPHA:75249
HP:0001692	Atrial arrhythmia	84665	MYPN	OMIM:615248
HP:0001692	Atrial arrhythmia	10112	KIF20A	ORPHA:75249
HP:0001692	Atrial arrhythmia	7168	TPM1	OMIM:611878
HP:0001692	Atrial arrhythmia	10021	HCN4	OMIM:163800
HP:0001692	Atrial arrhythmia	1837	DTNA	OMIM:604169
HP:0001692	Atrial arrhythmia	7504	XK	OMIM:300842
HP:0001692	Atrial arrhythmia	80206	FHOD3	OMIM:619402
HP:0001692	Atrial arrhythmia	57798	GATAD1	OMIM:614672
HP:0001692	Atrial arrhythmia	287	ANK2	OMIM:600919
HP:0001692	Atrial arrhythmia	1760	DMPK	OMIM:160900
HP:0001692	Atrial arrhythmia	353	APRT	ORPHA:976
HP:0001692	Atrial arrhythmia	1621	DBH	OMIM:223360
HP:0001692	Atrial arrhythmia	9631	NUP155	OMIM:615770
HP:0001692	Atrial arrhythmia	2702	GJA5	OMIM:614049
HP:0001692	Atrial arrhythmia	57158	JPH2	OMIM:613873
HP:0001692	Atrial arrhythmia	5350	PLN	OMIM:613874
HP:0001692	Atrial arrhythmia	140628	GATA5	OMIM:617912
HP:0001692	Atrial arrhythmia	91624	NEXN	OMIM:613876
HP:0001692	Atrial arrhythmia	51778	MYOZ2	OMIM:613838
HP:0001692	Atrial arrhythmia	6330	SCN4B	OMIM:611819
HP:0001692	Atrial arrhythmia	7134	TNNC1	OMIM:613243
HP:0001692	Atrial arrhythmia	88	ACTN2	OMIM:612158
HP:0001692	Atrial arrhythmia	284119	CAVIN1	OMIM:613327
HP:0001692	Atrial arrhythmia	781	CACNA2D1	ORPHA:51083
HP:0001692	Atrial arrhythmia	3757	KCNH2	ORPHA:51083
HP:0001692	Atrial arrhythmia	6508	SLC4A3	ORPHA:51083
HP:0001692	Atrial arrhythmia	7273	TTN	OMIM:604145
HP:0001692	Atrial arrhythmia	4838	NODAL	OMIM:270100
HP:0001692	Atrial arrhythmia	442721	LMOD2	OMIM:619897
HP:0001693	Cardiac shunt	94	ACVRL1	OMIM:600376
HP:0001693	Cardiac shunt	2294	FOXF1	OMIM:265380
HP:0001693	Cardiac shunt	2022	ENG	OMIM:187300
HP:0001693	Cardiac shunt	7092	TLL1	ORPHA:99106
HP:0001693	Cardiac shunt	57057	TBX20	ORPHA:99103
HP:0001693	Cardiac shunt	4624	MYH6	ORPHA:99103
HP:0001693	Cardiac shunt	1482	NKX2-5	ORPHA:99103
HP:0001693	Cardiac shunt	70	ACTC1	ORPHA:99103
HP:0001693	Cardiac shunt	10370	CITED2	ORPHA:99103
HP:0001693	Cardiac shunt	10370	CITED2	ORPHA:99105
HP:0001693	Cardiac shunt	2626	GATA4	ORPHA:99103
HP:0001693	Cardiac shunt	2627	GATA6	ORPHA:99103
HP:0001693	Cardiac shunt	79228	THOC6	ORPHA:363444
HP:0001693	Cardiac shunt	79989	IFT56	OMIM:619534
HP:0001693	Cardiac shunt	4629	MYH11	OMIM:619351
HP:0001694	Right-to-left shunt	94	ACVRL1	OMIM:600376
HP:0001694	Right-to-left shunt	2294	FOXF1	OMIM:265380
HP:0001694	Right-to-left shunt	2022	ENG	OMIM:187300
HP:0001694	Right-to-left shunt	7092	TLL1	ORPHA:99106
HP:0001695	Cardiac arrest	1374	CPT1A	ORPHA:156
HP:0001695	Cardiac arrest	26191	PTPN22	ORPHA:397
HP:0001695	Cardiac arrest	3106	HLA-B	ORPHA:397
HP:0001695	Cardiac arrest	3106	HLA-B	ORPHA:36426
HP:0001695	Cardiac arrest	3123	HLA-DRB1	ORPHA:397
HP:0001695	Cardiac arrest	8974	P4HA2	ORPHA:397
HP:0001695	Cardiac arrest	37	ACADVL	OMIM:201475
HP:0001695	Cardiac arrest	282996	RBM20	OMIM:613172
HP:0001695	Cardiac arrest	7168	TPM1	OMIM:115196
HP:0001695	Cardiac arrest	4000	LMNA	ORPHA:300751
HP:0001695	Cardiac arrest	4000	LMNA	OMIM:181350
HP:0001695	Cardiac arrest	4000	LMNA	OMIM:115200
HP:0001695	Cardiac arrest	4000	LMNA	ORPHA:98855
HP:0001695	Cardiac arrest	4000	LMNA	ORPHA:98853
HP:0001695	Cardiac arrest	3753	KCNE1	OMIM:613695
HP:0001695	Cardiac arrest	3753	KCNE1	ORPHA:101016
HP:0001695	Cardiac arrest	3753	KCNE1	OMIM:612347
HP:0001695	Cardiac arrest	8048	CSRP3	OMIM:612124
HP:0001695	Cardiac arrest	4625	MYH7	ORPHA:1880
HP:0001695	Cardiac arrest	4625	MYH7	OMIM:613426
HP:0001695	Cardiac arrest	6804	STX1A	ORPHA:904
HP:0001695	Cardiac arrest	7461	CLIP2	ORPHA:904
HP:0001695	Cardiac arrest	84277	DNAJC30	ORPHA:904
HP:0001695	Cardiac arrest	8468	FKBP6	ORPHA:904
HP:0001695	Cardiac arrest	5982	RFC2	ORPHA:904
HP:0001695	Cardiac arrest	2969	GTF2I	ORPHA:904
HP:0001695	Cardiac arrest	3984	LIMK1	ORPHA:904
HP:0001695	Cardiac arrest	9569	GTF2IRD1	ORPHA:904
HP:0001695	Cardiac arrest	155382	VPS37D	ORPHA:904
HP:0001695	Cardiac arrest	155368	METTL27	ORPHA:904
HP:0001695	Cardiac arrest	114049	BUD23	ORPHA:904
HP:0001695	Cardiac arrest	7458	EIF4H	ORPHA:904
HP:0001695	Cardiac arrest	84163	GTF2IRD2	ORPHA:904
HP:0001695	Cardiac arrest	9275	BCL7B	ORPHA:904
HP:0001695	Cardiac arrest	26608	TBL2	ORPHA:904
HP:0001695	Cardiac arrest	653361	NCF1	ORPHA:904
HP:0001695	Cardiac arrest	135886	TMEM270	ORPHA:904
HP:0001695	Cardiac arrest	51085	MLXIPL	ORPHA:904
HP:0001695	Cardiac arrest	9031	BAZ1B	ORPHA:904
HP:0001695	Cardiac arrest	2006	ELN	ORPHA:904
HP:0001695	Cardiac arrest	7454	WAS	ORPHA:906
HP:0001695	Cardiac arrest	7456	WIPF1	ORPHA:906
HP:0001695	Cardiac arrest	7134	TNNC1	OMIM:611879
HP:0001695	Cardiac arrest	845	CASQ2	OMIM:604772
HP:0001695	Cardiac arrest	845	CASQ2	ORPHA:3286
HP:0001695	Cardiac arrest	3784	KCNQ1	OMIM:609621
HP:0001695	Cardiac arrest	3784	KCNQ1	OMIM:192500
HP:0001695	Cardiac arrest	3784	KCNQ1	OMIM:607554
HP:0001695	Cardiac arrest	3784	KCNQ1	ORPHA:101016
HP:0001695	Cardiac arrest	3784	KCNQ1	OMIM:220400
HP:0001695	Cardiac arrest	3784	KCNQ1	ORPHA:51083
HP:0001695	Cardiac arrest	7043	TGFB3	OMIM:107970
HP:0001695	Cardiac arrest	4040	LRP6	OMIM:610947
HP:0001695	Cardiac arrest	5728	PTEN	ORPHA:744
HP:0001695	Cardiac arrest	207	AKT1	ORPHA:744
HP:0001695	Cardiac arrest	79188	TMEM43	OMIM:604400
HP:0001695	Cardiac arrest	79188	TMEM43	ORPHA:98853
HP:0001695	Cardiac arrest	1837	DTNA	OMIM:604169
HP:0001695	Cardiac arrest	3728	JUP	OMIM:601214
HP:0001695	Cardiac arrest	3728	JUP	ORPHA:34217
HP:0001695	Cardiac arrest	80206	FHOD3	OMIM:619402
HP:0001695	Cardiac arrest	1829	DSG2	OMIM:610193
HP:0001695	Cardiac arrest	27068	PPA2	OMIM:617222
HP:0001695	Cardiac arrest	287	ANK2	OMIM:600919
HP:0001695	Cardiac arrest	287	ANK2	ORPHA:101016
HP:0001695	Cardiac arrest	131118	DNAJC19	OMIM:610198
HP:0001695	Cardiac arrest	1824	DSC2	OMIM:610476
HP:0001695	Cardiac arrest	54800	KLHL24	OMIM:620236
HP:0001695	Cardiac arrest	11155	LDB3	OMIM:601493
HP:0001695	Cardiac arrest	26154	ABCA12	ORPHA:457
HP:0001695	Cardiac arrest	7139	TNNT2	OMIM:601494
HP:0001695	Cardiac arrest	3949	LDLR	ORPHA:391665
HP:0001695	Cardiac arrest	255738	PCSK9	ORPHA:391665
HP:0001695	Cardiac arrest	26119	LDLRAP1	ORPHA:391665
HP:0001695	Cardiac arrest	338	APOB	ORPHA:391665
HP:0001695	Cardiac arrest	64240	ABCG5	ORPHA:391665
HP:0001695	Cardiac arrest	64241	ABCG8	ORPHA:391665
HP:0001695	Cardiac arrest	6910	TBX5	ORPHA:101016
HP:0001695	Cardiac arrest	9722	NOS1AP	ORPHA:101016
HP:0001695	Cardiac arrest	6330	SCN4B	ORPHA:101016
HP:0001695	Cardiac arrest	6330	SCN4B	OMIM:611819
HP:0001695	Cardiac arrest	808	CALM3	ORPHA:101016
HP:0001695	Cardiac arrest	808	CALM3	ORPHA:3286
HP:0001695	Cardiac arrest	6640	SNTA1	ORPHA:101016
HP:0001695	Cardiac arrest	4633	MYL2	OMIM:608758
HP:0001695	Cardiac arrest	10320	IKZF1	ORPHA:36426
HP:0001695	Cardiac arrest	7137	TNNI3	OMIM:115210
HP:0001695	Cardiac arrest	9631	NUP155	OMIM:615770
HP:0001695	Cardiac arrest	1674	DES	ORPHA:98909
HP:0001695	Cardiac arrest	2010	EMD	OMIM:310300
HP:0001695	Cardiac arrest	2010	EMD	ORPHA:98863
HP:0001695	Cardiac arrest	51778	MYOZ2	OMIM:613838
HP:0001695	Cardiac arrest	2273	FHL1	ORPHA:98863
HP:0001695	Cardiac arrest	23529	CLCF1	ORPHA:1545
HP:0001695	Cardiac arrest	9244	CRLF1	ORPHA:1545
HP:0001695	Cardiac arrest	2070	EYA4	OMIM:605362
HP:0001695	Cardiac arrest	2771	GNAI2	OMIM:192605
HP:0001695	Cardiac arrest	2318	FLNC	OMIM:617047
HP:0001695	Cardiac arrest	2783	GNB2	OMIM:619464
HP:0001695	Cardiac arrest	221496	LEMD2	OMIM:212500
HP:0001695	Cardiac arrest	5167	ENPP1	ORPHA:758
HP:0001695	Cardiac arrest	368	ABCC6	ORPHA:758
HP:0001695	Cardiac arrest	28976	ACAD9	ORPHA:99901
HP:0001695	Cardiac arrest	3759	KCNJ2	ORPHA:51083
HP:0001695	Cardiac arrest	1804	DPP6	OMIM:612956
HP:0001695	Cardiac arrest	6444	SGCD	OMIM:606685
HP:0001695	Cardiac arrest	7273	TTN	OMIM:611705
HP:0001695	Cardiac arrest	1832	DSP	OMIM:607450
HP:0001695	Cardiac arrest	23345	SYNE1	ORPHA:98853
HP:0001695	Cardiac arrest	23224	SYNE2	ORPHA:98853
HP:0001695	Cardiac arrest	7259	TSPYL1	ORPHA:168593
HP:0001695	Cardiac arrest	6331	SCN5A	OMIM:601144
HP:0001695	Cardiac arrest	6331	SCN5A	ORPHA:130
HP:0001695	Cardiac arrest	9997	SCO2	OMIM:604377
HP:0001695	Cardiac arrest	23630	KCNE5	ORPHA:130
HP:0001695	Cardiac arrest	10371	SEMA3A	ORPHA:130
HP:0001695	Cardiac arrest	54795	TRPM4	ORPHA:130
HP:0001695	Cardiac arrest	10021	HCN4	ORPHA:130
HP:0001695	Cardiac arrest	10021	HCN4	OMIM:163800
HP:0001695	Cardiac arrest	3764	KCNJ8	ORPHA:130
HP:0001695	Cardiac arrest	3752	KCND3	ORPHA:130
HP:0001695	Cardiac arrest	5318	PKP2	ORPHA:130
HP:0001695	Cardiac arrest	5318	PKP2	OMIM:609040
HP:0001695	Cardiac arrest	7871	SLMAP	ORPHA:130
HP:0001695	Cardiac arrest	10060	ABCC9	ORPHA:130
HP:0001695	Cardiac arrest	29098	RANGRF	ORPHA:130
HP:0001695	Cardiac arrest	6336	SCN10A	ORPHA:130
HP:0001695	Cardiac arrest	10008	KCNE3	ORPHA:130
HP:0001695	Cardiac arrest	10008	KCNE3	OMIM:613119
HP:0001695	Cardiac arrest	55800	SCN3B	ORPHA:130
HP:0001695	Cardiac arrest	10142	AKAP9	ORPHA:130
HP:0001695	Cardiac arrest	783	CACNB2	ORPHA:130
HP:0001695	Cardiac arrest	6337	SCNN1A	ORPHA:130
HP:0001695	Cardiac arrest	6327	SCN2B	ORPHA:130
HP:0001695	Cardiac arrest	781	CACNA2D1	ORPHA:130
HP:0001695	Cardiac arrest	775	CACNA1C	ORPHA:130
HP:0001695	Cardiac arrest	6324	SCN1B	ORPHA:130
HP:0001695	Cardiac arrest	23171	GPD1L	ORPHA:130
HP:0001695	Cardiac arrest	3155	HMGCL	ORPHA:20
HP:0001695	Cardiac arrest	4607	MYBPC3	OMIM:115197
HP:0001695	Cardiac arrest	79989	IFT56	OMIM:619534
HP:0001695	Cardiac arrest	9992	KCNE2	OMIM:613693
HP:0001695	Cardiac arrest	54539	NDUFB11	OMIM:300952
HP:0001695	Cardiac arrest	253017	TECRL	OMIM:614021
HP:0001695	Cardiac arrest	805	CALM2	OMIM:616249
HP:0001695	Cardiac arrest	1861	TOR1A	OMIM:618947
HP:0001695	Cardiac arrest	801	CALM1	OMIM:616247
HP:0001695	Cardiac arrest	801	CALM1	OMIM:614916
HP:0001695	Cardiac arrest	788	SLC25A20	OMIM:212138
HP:0001695	Cardiac arrest	708	C1QBP	OMIM:617713
HP:0001695	Cardiac arrest	81031	SLC2A10	ORPHA:3342
HP:0001695	Cardiac arrest	3757	KCNH2	OMIM:609620
HP:0001695	Cardiac arrest	3757	KCNH2	OMIM:613688
HP:0001695	Cardiac arrest	4634	MYL3	OMIM:608751
HP:0001695	Cardiac arrest	54675	CRLS1	OMIM:620167
HP:0001695	Cardiac arrest	55750	AGK	OMIM:212350
HP:0001695	Cardiac arrest	859	CAV3	OMIM:611818
HP:0001695	Cardiac arrest	57538	ALPK3	OMIM:618052
HP:0001695	Cardiac arrest	2629	GBA1	ORPHA:77260
HP:0001695	Cardiac arrest	4695	NDUFA2	OMIM:618235
HP:0001695	Cardiac arrest	6182	MRPL12	OMIM:618951
HP:0001695	Cardiac arrest	10345	TRDN	OMIM:615441
HP:0001695	Cardiac arrest	70	ACTC1	OMIM:612098
HP:0001695	Cardiac arrest	7046	TGFBR1	ORPHA:60030
HP:0001695	Cardiac arrest	10526	IPO8	ORPHA:60030
HP:0001695	Cardiac arrest	7048	TGFBR2	ORPHA:60030
HP:0001695	Cardiac arrest	51086	TNNI3K	OMIM:616117
HP:0001695	Cardiac arrest	3762	KCNJ5	OMIM:613485
HP:0001695	Cardiac arrest	144245	ALG10B	OMIM:613688
HP:0001695	Cardiac arrest	88	ACTN2	OMIM:612158
HP:0001695	Cardiac arrest	10560	SLC19A2	ORPHA:49827
HP:0001695	Cardiac arrest	128989	TANGO2	OMIM:616878
HP:0001695	Cardiac arrest	25782	RAB3GAP2	OMIM:212720
HP:0001695	Cardiac arrest	6440	SFTPC	ORPHA:70587
HP:0001695	Cardiac arrest	21	ABCA3	ORPHA:70587
HP:0001695	Cardiac arrest	6439	SFTPB	ORPHA:70587
HP:0001695	Cardiac arrest	6508	SLC4A3	OMIM:620231
HP:0001695	Cardiac arrest	5236	PGM1	OMIM:614921
HP:0001695	Cardiac arrest	6262	RYR2	OMIM:115000
HP:0001695	Cardiac arrest	51422	PRKAG2	OMIM:600858
HP:0001696	Situs inversus totalis	27019	DNAI1	OMIM:244400
HP:0001696	Situs inversus totalis	27019	DNAI1	ORPHA:244
HP:0001696	Situs inversus totalis	79600	TCTN1	ORPHA:475
HP:0001696	Situs inversus totalis	79600	TCTN1	ORPHA:564
HP:0001696	Situs inversus totalis	79848	CSPP1	ORPHA:475
HP:0001696	Situs inversus totalis	79848	CSPP1	ORPHA:564
HP:0001696	Situs inversus totalis	51684	SUFU	ORPHA:475
HP:0001696	Situs inversus totalis	54806	AHI1	ORPHA:475
HP:0001696	Situs inversus totalis	153241	CEP120	ORPHA:475
HP:0001696	Situs inversus totalis	65250	CPLANE1	ORPHA:475
HP:0001696	Situs inversus totalis	91147	TMEM67	ORPHA:475
HP:0001696	Situs inversus totalis	91147	TMEM67	ORPHA:564
HP:0001696	Situs inversus totalis	200894	ARL13B	ORPHA:475
HP:0001696	Situs inversus totalis	9731	CEP104	ORPHA:475
HP:0001696	Situs inversus totalis	219844	HYLS1	ORPHA:475
HP:0001696	Situs inversus totalis	23247	KATNIP	ORPHA:475
HP:0001696	Situs inversus totalis	219854	TMEM218	ORPHA:475
HP:0001696	Situs inversus totalis	54903	MKS1	ORPHA:475
HP:0001696	Situs inversus totalis	54903	MKS1	ORPHA:564
HP:0001696	Situs inversus totalis	95681	CEP41	ORPHA:475
HP:0001696	Situs inversus totalis	9786	KIAA0586	ORPHA:475
HP:0001696	Situs inversus totalis	56623	INPP5E	ORPHA:475
HP:0001696	Situs inversus totalis	79867	TCTN2	ORPHA:475
HP:0001696	Situs inversus totalis	79867	TCTN2	ORPHA:564
HP:0001696	Situs inversus totalis	80776	B9D2	ORPHA:475
HP:0001696	Situs inversus totalis	80776	B9D2	ORPHA:564
HP:0001696	Situs inversus totalis	10464	PIBF1	ORPHA:475
HP:0001696	Situs inversus totalis	80210	ARMC9	ORPHA:475
HP:0001696	Situs inversus totalis	23116	TOGARAM1	ORPHA:475
HP:0001696	Situs inversus totalis	25776	CBY1	ORPHA:475
HP:0001696	Situs inversus totalis	27077	B9D1	ORPHA:475
HP:0001696	Situs inversus totalis	27077	B9D1	ORPHA:564
HP:0001696	Situs inversus totalis	403	ARL3	ORPHA:475
HP:0001696	Situs inversus totalis	65062	TMEM237	ORPHA:475
HP:0001696	Situs inversus totalis	65062	TMEM237	ORPHA:564
HP:0001696	Situs inversus totalis	139212	DNAAF6	OMIM:300991
HP:0001696	Situs inversus totalis	139212	DNAAF6	ORPHA:244
HP:0001696	Situs inversus totalis	85016	CFAP300	OMIM:618063
HP:0001696	Situs inversus totalis	85016	CFAP300	ORPHA:244
HP:0001696	Situs inversus totalis	5396	PRRX1	ORPHA:990
HP:0001696	Situs inversus totalis	5396	PRRX1	OMIM:202650
HP:0001696	Situs inversus totalis	5015	OTX2	ORPHA:990
HP:0001696	Situs inversus totalis	83538	ODAD4	OMIM:617092
HP:0001696	Situs inversus totalis	83538	ODAD4	ORPHA:244
HP:0001696	Situs inversus totalis	1770	DNAH9	OMIM:618300
HP:0001696	Situs inversus totalis	1770	DNAH9	ORPHA:244
HP:0001696	Situs inversus totalis	83861	RSPH3	OMIM:616481
HP:0001696	Situs inversus totalis	83861	RSPH3	ORPHA:244
HP:0001696	Situs inversus totalis	5311	PKD2	OMIM:613095
HP:0001696	Situs inversus totalis	23568	ARL2BP	OMIM:615434
HP:0001696	Situs inversus totalis	10309	CCNO	OMIM:615872
HP:0001696	Situs inversus totalis	10309	CCNO	ORPHA:244
HP:0001696	Situs inversus totalis	55329	MNS1	OMIM:618948
HP:0001696	Situs inversus totalis	25981	DNAH1	OMIM:617577
HP:0001696	Situs inversus totalis	25981	DNAH1	ORPHA:244
HP:0001696	Situs inversus totalis	54585	LZTFL1	OMIM:615994
HP:0001696	Situs inversus totalis	64446	DNAI2	OMIM:612444
HP:0001696	Situs inversus totalis	64446	DNAI2	ORPHA:244
HP:0001696	Situs inversus totalis	4487	MSX1	ORPHA:199302
HP:0001696	Situs inversus totalis	5818	NECTIN1	ORPHA:199302
HP:0001696	Situs inversus totalis	8626	TP63	ORPHA:199302
HP:0001696	Situs inversus totalis	3664	IRF6	ORPHA:199302
HP:0001696	Situs inversus totalis	54768	HYDIN	OMIM:608647
HP:0001696	Situs inversus totalis	54768	HYDIN	ORPHA:244
HP:0001696	Situs inversus totalis	197131	UBR1	OMIM:243800
HP:0001696	Situs inversus totalis	7490	WT1	ORPHA:3097
HP:0001696	Situs inversus totalis	89765	RSPH1	OMIM:615481
HP:0001696	Situs inversus totalis	89765	RSPH1	ORPHA:244
HP:0001696	Situs inversus totalis	161582	DNAAF4	OMIM:615482
HP:0001696	Situs inversus totalis	161582	DNAAF4	ORPHA:244
HP:0001696	Situs inversus totalis	27031	NPHP3	OMIM:208540
HP:0001696	Situs inversus totalis	27031	NPHP3	OMIM:267010
HP:0001696	Situs inversus totalis	10991	SLC38A3	OMIM:619881
HP:0001696	Situs inversus totalis	221421	RSPH9	OMIM:612650
HP:0001696	Situs inversus totalis	221421	RSPH9	ORPHA:244
HP:0001696	Situs inversus totalis	54919	DNAAF5	OMIM:614874
HP:0001696	Situs inversus totalis	54919	DNAAF5	ORPHA:244
HP:0001696	Situs inversus totalis	146845	CFAP52	OMIM:619607
HP:0001696	Situs inversus totalis	51364	ZMYND10	OMIM:615444
HP:0001696	Situs inversus totalis	51364	ZMYND10	ORPHA:244
HP:0001696	Situs inversus totalis	25790	CFAP45	OMIM:619608
HP:0001696	Situs inversus totalis	10126	DNAL4	OMIM:616059
HP:0001696	Situs inversus totalis	388389	CCDC103	OMIM:614679
HP:0001696	Situs inversus totalis	388389	CCDC103	ORPHA:244
HP:0001696	Situs inversus totalis	25914	RTTN	OMIM:614833
HP:0001696	Situs inversus totalis	8701	DNAH11	OMIM:611884
HP:0001696	Situs inversus totalis	8701	DNAH11	ORPHA:244
HP:0001696	Situs inversus totalis	1767	DNAH5	OMIM:608644
HP:0001696	Situs inversus totalis	1767	DNAH5	ORPHA:244
HP:0001696	Situs inversus totalis	55997	CFC1	OMIM:605376
HP:0001696	Situs inversus totalis	85452	CFAP74	OMIM:620197
HP:0001696	Situs inversus totalis	8382	NME5	OMIM:620032
HP:0001696	Situs inversus totalis	10084	PQBP1	OMIM:309500
HP:0001696	Situs inversus totalis	123872	DNAAF1	OMIM:613193
HP:0001696	Situs inversus totalis	123872	DNAAF1	ORPHA:244
HP:0001696	Situs inversus totalis	79989	IFT56	OMIM:619534
HP:0001696	Situs inversus totalis	2657	GDF1	OMIM:208530
HP:0001696	Situs inversus totalis	55130	ODAD2	OMIM:615451
HP:0001696	Situs inversus totalis	55130	ODAD2	ORPHA:244
HP:0001696	Situs inversus totalis	10560	SLC19A2	OMIM:249270
HP:0001696	Situs inversus totalis	23090	ZNF423	OMIM:614844
HP:0001696	Situs inversus totalis	284086	NEK8	OMIM:615415
HP:0001696	Situs inversus totalis	118856	MMP21	OMIM:616749
HP:0001696	Situs inversus totalis	115948	ODAD3	ORPHA:244
HP:0001696	Situs inversus totalis	115948	ODAD3	OMIM:616037
HP:0001696	Situs inversus totalis	352909	DNAAF3	ORPHA:244
HP:0001696	Situs inversus totalis	352909	DNAAF3	OMIM:606763
HP:0001696	Situs inversus totalis	27148	STK36	ORPHA:244
HP:0001696	Situs inversus totalis	51314	NME8	ORPHA:244
HP:0001696	Situs inversus totalis	92749	DRC1	ORPHA:244
HP:0001696	Situs inversus totalis	54970	TTC12	ORPHA:244
HP:0001696	Situs inversus totalis	152110	NEK10	ORPHA:244
HP:0001696	Situs inversus totalis	8481	OFD1	ORPHA:244
HP:0001696	Situs inversus totalis	2302	FOXJ1	ORPHA:244
HP:0001696	Situs inversus totalis	85478	CCDC65	ORPHA:244
HP:0001696	Situs inversus totalis	85478	CCDC65	OMIM:615504
HP:0001696	Situs inversus totalis	55036	CCDC40	ORPHA:244
HP:0001696	Situs inversus totalis	55036	CCDC40	OMIM:613808
HP:0001696	Situs inversus totalis	6674	SPAG1	ORPHA:244
HP:0001696	Situs inversus totalis	6674	SPAG1	OMIM:615505
HP:0001696	Situs inversus totalis	83544	DNAL1	ORPHA:244
HP:0001696	Situs inversus totalis	83544	DNAL1	OMIM:614017
HP:0001696	Situs inversus totalis	200373	CFAP221	ORPHA:244
HP:0001696	Situs inversus totalis	374407	DNAJB13	ORPHA:244
HP:0001696	Situs inversus totalis	55172	DNAAF2	ORPHA:244
HP:0001696	Situs inversus totalis	55172	DNAAF2	OMIM:612518
HP:0001696	Situs inversus totalis	2622	GAS8	ORPHA:244
HP:0001696	Situs inversus totalis	23639	DNAAF11	ORPHA:244
HP:0001696	Situs inversus totalis	23639	DNAAF11	OMIM:614935
HP:0001696	Situs inversus totalis	345895	RSPH4A	ORPHA:244
HP:0001696	Situs inversus totalis	6103	RPGR	ORPHA:244
HP:0001696	Situs inversus totalis	93233	ODAD1	ORPHA:244
HP:0001696	Situs inversus totalis	93233	ODAD1	OMIM:615067
HP:0001696	Situs inversus totalis	345643	MCIDAS	ORPHA:244
HP:0001696	Situs inversus totalis	56683	CFAP298	ORPHA:244
HP:0001696	Situs inversus totalis	56683	CFAP298	OMIM:615500
HP:0001696	Situs inversus totalis	79925	SPEF2	ORPHA:244
HP:0001696	Situs inversus totalis	115399	LRRC56	ORPHA:244
HP:0001696	Situs inversus totalis	339829	CCDC39	ORPHA:244
HP:0001696	Situs inversus totalis	339829	CCDC39	OMIM:613807
HP:0001696	Situs inversus totalis	246176	GAS2L2	ORPHA:244
HP:0001696	Situs inversus totalis	5566	PRKACA	ORPHA:289
HP:0001696	Situs inversus totalis	5567	PRKACB	ORPHA:289
HP:0001696	Situs inversus totalis	2735	GLI1	ORPHA:289
HP:0001696	Situs inversus totalis	2121	EVC	ORPHA:289
HP:0001696	Situs inversus totalis	51626	DYNC2LI1	ORPHA:289
HP:0001696	Situs inversus totalis	132884	EVC2	ORPHA:289
HP:0001696	Situs inversus totalis	84314	TMEM107	ORPHA:564
HP:0001696	Situs inversus totalis	26123	TCTN3	ORPHA:564
HP:0001696	Situs inversus totalis	57096	RPGRIP1	ORPHA:564
HP:0001696	Situs inversus totalis	80184	CEP290	ORPHA:564
HP:0001696	Situs inversus totalis	51259	TMEM216	ORPHA:564
HP:0001696	Situs inversus totalis	57545	CC2D2A	ORPHA:564
HP:0001696	Situs inversus totalis	79583	TMEM231	ORPHA:564
HP:0001696	Situs inversus totalis	79770	TXNDC15	ORPHA:564
HP:0001696	Situs inversus totalis	23322	RPGRIP1L	ORPHA:564
HP:0001696	Situs inversus totalis	203286	ANKS6	OMIM:615382
HP:0001696	Situs inversus totalis	123016	TTC8	OMIM:615985
HP:0001696	Situs inversus totalis	84667	HES7	OMIM:613686
HP:0001696	Situs inversus totalis	1954	MEGF8	OMIM:614976
HP:0001696	Situs inversus totalis	220136	CFAP53	OMIM:614779
HP:0001696	Situs inversus totalis	100128908	CIROP	OMIM:619702
HP:0001696	Situs inversus totalis	63895	PIEZO2	ORPHA:2461
HP:0001696	Situs inversus totalis	27130	INVS	OMIM:602088
HP:0001697	Abnormal pericardium morphology	83483	PLVAP	OMIM:618183
HP:0001697	Abnormal pericardium morphology	51422	PRKAG2	OMIM:261740
HP:0001697	Abnormal pericardium morphology	55388	MCM10	OMIM:619313
HP:0001697	Abnormal pericardium morphology	4607	MYBPC3	OMIM:115197
HP:0001697	Abnormal pericardium morphology	5167	ENPP1	ORPHA:51608
HP:0001697	Abnormal pericardium morphology	368	ABCC6	ORPHA:51608
HP:0001697	Abnormal pericardium morphology	3702	ITK	OMIM:613011
HP:0001697	Abnormal pericardium morphology	4000	LMNA	ORPHA:300751
HP:0001697	Abnormal pericardium morphology	4000	LMNA	OMIM:115200
HP:0001697	Abnormal pericardium morphology	9508	ADAMTS3	ORPHA:2136
HP:0001697	Abnormal pericardium morphology	5784	PTPN14	OMIM:613611
HP:0001697	Abnormal pericardium morphology	25821	MTO1	OMIM:614702
HP:0001697	Abnormal pericardium morphology	6696	SPP1	ORPHA:93552
HP:0001697	Abnormal pericardium morphology	3654	IRAK1	ORPHA:93552
HP:0001697	Abnormal pericardium morphology	79796	ALG9	OMIM:608776
HP:0001697	Abnormal pericardium morphology	79796	ALG9	ORPHA:79328
HP:0001697	Abnormal pericardium morphology	1776	DNASE1L3	ORPHA:36412
HP:0001697	Abnormal pericardium morphology	10060	ABCC9	OMIM:239850
HP:0001697	Abnormal pericardium morphology	51611	DPH5	OMIM:620070
HP:0001697	Abnormal pericardium morphology	4089	SMAD4	OMIM:139210
HP:0001697	Abnormal pericardium morphology	2050	EPHB4	OMIM:617300
HP:0001697	Abnormal pericardium morphology	84162	BLTP1	OMIM:617822
HP:0001697	Abnormal pericardium morphology	64135	IFIH1	OMIM:615846
HP:0001697	Abnormal pericardium morphology	745	MYRF	OMIM:618280
HP:0001697	Abnormal pericardium morphology	3954	LETM1	OMIM:620089
HP:0001697	Abnormal pericardium morphology	1130	LYST	ORPHA:167
HP:0001697	Abnormal pericardium morphology	37	ACADVL	ORPHA:26793
HP:0001697	Abnormal pericardium morphology	440275	EIF2AK4	ORPHA:199241
HP:0001697	Abnormal pericardium morphology	2629	GBA1	ORPHA:77261
HP:0001697	Abnormal pericardium morphology	2629	GBA1	ORPHA:77259
HP:0001697	Abnormal pericardium morphology	10203	CALCRL	OMIM:618773
HP:0001697	Abnormal pericardium morphology	7386	UQCRFS1	OMIM:618775
HP:0001697	Abnormal pericardium morphology	64072	CDH23	ORPHA:91347
HP:0001697	Abnormal pericardium morphology	79867	TCTN2	OMIM:613885
HP:0001697	Abnormal pericardium morphology	165	AEBP1	ORPHA:536532
HP:0001697	Abnormal pericardium morphology	1188	CLCNKB	ORPHA:358
HP:0001697	Abnormal pericardium morphology	6559	SLC12A3	ORPHA:358
HP:0001697	Abnormal pericardium morphology	950	SCARB2	ORPHA:77259
HP:0001697	Abnormal pericardium morphology	26191	PTPN22	ORPHA:397
HP:0001697	Abnormal pericardium morphology	26191	PTPN22	ORPHA:900
HP:0001697	Abnormal pericardium morphology	26191	PTPN22	OMIM:152700
HP:0001697	Abnormal pericardium morphology	3106	HLA-B	ORPHA:397
HP:0001697	Abnormal pericardium morphology	3106	HLA-B	ORPHA:29207
HP:0001697	Abnormal pericardium morphology	3106	HLA-B	ORPHA:117
HP:0001697	Abnormal pericardium morphology	3123	HLA-DRB1	ORPHA:397
HP:0001697	Abnormal pericardium morphology	3123	HLA-DRB1	ORPHA:85414
HP:0001697	Abnormal pericardium morphology	8974	P4HA2	ORPHA:397
HP:0001697	Abnormal pericardium morphology	144811	LACC1	ORPHA:85414
HP:0001697	Abnormal pericardium morphology	4282	MIF	ORPHA:85414
HP:0001697	Abnormal pericardium morphology	3569	IL6	ORPHA:85414
HP:0001697	Abnormal pericardium morphology	3932	LCK	OMIM:615758
HP:0001697	Abnormal pericardium morphology	1493	CTLA4	ORPHA:900
HP:0001697	Abnormal pericardium morphology	1493	CTLA4	OMIM:152700
HP:0001697	Abnormal pericardium morphology	3115	HLA-DPB1	ORPHA:900
HP:0001697	Abnormal pericardium morphology	5657	PRTN3	ORPHA:900
HP:0001697	Abnormal pericardium morphology	3113	HLA-DPA1	ORPHA:900
HP:0001697	Abnormal pericardium morphology	4210	MEFV	ORPHA:342
HP:0001697	Abnormal pericardium morphology	4210	MEFV	OMIM:249100
HP:0001697	Abnormal pericardium morphology	4210	MEFV	ORPHA:117
HP:0001697	Abnormal pericardium morphology	4094	MAF	ORPHA:1272
HP:0001697	Abnormal pericardium morphology	4094	MAF	OMIM:601088
HP:0001697	Abnormal pericardium morphology	100147744	RNU7-1	OMIM:619487
HP:0001697	Abnormal pericardium morphology	3662	IRF4	ORPHA:3452
HP:0001697	Abnormal pericardium morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001697	Abnormal pericardium morphology	5373	PMM2	ORPHA:79318
HP:0001697	Abnormal pericardium morphology	5373	PMM2	OMIM:212065
HP:0001697	Abnormal pericardium morphology	64127	NOD2	ORPHA:90340
HP:0001697	Abnormal pericardium morphology	64127	NOD2	OMIM:186580
HP:0001697	Abnormal pericardium morphology	64127	NOD2	OMIM:617321
HP:0001697	Abnormal pericardium morphology	2212	FCGR2A	OMIM:152700
HP:0001697	Abnormal pericardium morphology	2213	FCGR2B	OMIM:152700
HP:0001697	Abnormal pericardium morphology	11277	TREX1	OMIM:152700
HP:0001697	Abnormal pericardium morphology	1773	DNASE1	OMIM:152700
HP:0001697	Abnormal pericardium morphology	3039	HBA1	ORPHA:163596
HP:0001697	Abnormal pericardium morphology	3040	HBA2	ORPHA:163596
HP:0001697	Abnormal pericardium morphology	149233	IL23R	ORPHA:117
HP:0001697	Abnormal pericardium morphology	6775	STAT4	ORPHA:117
HP:0001697	Abnormal pericardium morphology	3586	IL10	ORPHA:117
HP:0001697	Abnormal pericardium morphology	1230	CCR1	ORPHA:117
HP:0001697	Abnormal pericardium morphology	355	FAS	ORPHA:117
HP:0001697	Abnormal pericardium morphology	3592	IL12A	ORPHA:117
HP:0001697	Abnormal pericardium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001697	Abnormal pericardium morphology	7099	TLR4	ORPHA:117
HP:0001697	Abnormal pericardium morphology	3459	IFNGR1	ORPHA:117
HP:0001697	Abnormal pericardium morphology	720	C4A	ORPHA:117
HP:0001697	Abnormal pericardium morphology	337867	UBAC2	ORPHA:117
HP:0001697	Abnormal pericardium morphology	51752	ERAP1	ORPHA:117
HP:0001697	Abnormal pericardium morphology	8302	KLRC4	ORPHA:117
HP:0001697	Abnormal pericardium morphology	10216	PRG4	OMIM:208250
HP:0001697	Abnormal pericardium morphology	4591	TRIM37	OMIM:253250
HP:0001697	Abnormal pericardium morphology	79633	FAT4	OMIM:616006
HP:0001697	Abnormal pericardium morphology	147372	CCBE1	OMIM:235510
HP:0001697	Abnormal pericardium morphology	2627	GATA6	OMIM:600001
HP:0001697	Abnormal pericardium morphology	7248	TSC1	ORPHA:538
HP:0001697	Abnormal pericardium morphology	7249	TSC2	ORPHA:538
HP:0001698	Pericardial effusion	83483	PLVAP	OMIM:618183
HP:0001698	Pericardial effusion	51422	PRKAG2	OMIM:261740
HP:0001698	Pericardial effusion	55388	MCM10	OMIM:619313
HP:0001698	Pericardial effusion	4607	MYBPC3	OMIM:115197
HP:0001698	Pericardial effusion	5167	ENPP1	ORPHA:51608
HP:0001698	Pericardial effusion	368	ABCC6	ORPHA:51608
HP:0001698	Pericardial effusion	3702	ITK	OMIM:613011
HP:0001698	Pericardial effusion	4000	LMNA	ORPHA:300751
HP:0001698	Pericardial effusion	4000	LMNA	OMIM:115200
HP:0001698	Pericardial effusion	9508	ADAMTS3	ORPHA:2136
HP:0001698	Pericardial effusion	147372	CCBE1	ORPHA:2136
HP:0001698	Pericardial effusion	147372	CCBE1	OMIM:235510
HP:0001698	Pericardial effusion	79633	FAT4	ORPHA:2136
HP:0001698	Pericardial effusion	5784	PTPN14	OMIM:613611
HP:0001698	Pericardial effusion	25821	MTO1	OMIM:614702
HP:0001698	Pericardial effusion	6775	STAT4	ORPHA:93552
HP:0001698	Pericardial effusion	6696	SPP1	ORPHA:93552
HP:0001698	Pericardial effusion	3654	IRAK1	ORPHA:93552
HP:0001698	Pericardial effusion	79796	ALG9	OMIM:608776
HP:0001698	Pericardial effusion	79796	ALG9	ORPHA:79328
HP:0001698	Pericardial effusion	1776	DNASE1L3	ORPHA:36412
HP:0001698	Pericardial effusion	10060	ABCC9	OMIM:239850
HP:0001698	Pericardial effusion	51611	DPH5	OMIM:620070
HP:0001698	Pericardial effusion	4094	MAF	ORPHA:1272
HP:0001698	Pericardial effusion	100147744	RNU7-1	OMIM:619487
HP:0001698	Pericardial effusion	4089	SMAD4	OMIM:139210
HP:0001698	Pericardial effusion	2050	EPHB4	OMIM:617300
HP:0001698	Pericardial effusion	84162	BLTP1	OMIM:617822
HP:0001698	Pericardial effusion	64135	IFIH1	OMIM:615846
HP:0001698	Pericardial effusion	745	MYRF	OMIM:618280
HP:0001698	Pericardial effusion	5373	PMM2	ORPHA:79318
HP:0001698	Pericardial effusion	5373	PMM2	OMIM:212065
HP:0001698	Pericardial effusion	3123	HLA-DRB1	OMIM:181000
HP:0001698	Pericardial effusion	3954	LETM1	OMIM:620089
HP:0001698	Pericardial effusion	1130	LYST	ORPHA:167
HP:0001698	Pericardial effusion	37	ACADVL	ORPHA:26793
HP:0001698	Pericardial effusion	440275	EIF2AK4	ORPHA:199241
HP:0001698	Pericardial effusion	2629	GBA1	ORPHA:77261
HP:0001698	Pericardial effusion	2629	GBA1	ORPHA:77259
HP:0001698	Pericardial effusion	10203	CALCRL	OMIM:618773
HP:0001698	Pericardial effusion	7386	UQCRFS1	OMIM:618775
HP:0001698	Pericardial effusion	64072	CDH23	ORPHA:91347
HP:0001698	Pericardial effusion	79867	TCTN2	OMIM:613885
HP:0001698	Pericardial effusion	165	AEBP1	ORPHA:536532
HP:0001698	Pericardial effusion	1188	CLCNKB	ORPHA:358
HP:0001698	Pericardial effusion	6559	SLC12A3	ORPHA:358
HP:0001698	Pericardial effusion	950	SCARB2	ORPHA:77259
HP:0001698	Pericardial effusion	7248	TSC1	ORPHA:538
HP:0001698	Pericardial effusion	7249	TSC2	ORPHA:538
HP:0001699	Sudden death	1374	CPT1A	ORPHA:156
HP:0001699	Sudden death	26191	PTPN22	ORPHA:397
HP:0001699	Sudden death	3106	HLA-B	ORPHA:397
HP:0001699	Sudden death	3106	HLA-B	ORPHA:36426
HP:0001699	Sudden death	3123	HLA-DRB1	ORPHA:397
HP:0001699	Sudden death	8974	P4HA2	ORPHA:397
HP:0001699	Sudden death	6331	SCN5A	OMIM:601144
HP:0001699	Sudden death	6331	SCN5A	OMIM:603830
HP:0001699	Sudden death	6331	SCN5A	ORPHA:101016
HP:0001699	Sudden death	6331	SCN5A	OMIM:113900
HP:0001699	Sudden death	37	ACADVL	OMIM:201475
HP:0001699	Sudden death	282996	RBM20	OMIM:613172
HP:0001699	Sudden death	7168	TPM1	OMIM:115196
HP:0001699	Sudden death	4607	MYBPC3	OMIM:115197
HP:0001699	Sudden death	4000	LMNA	ORPHA:300751
HP:0001699	Sudden death	4000	LMNA	OMIM:181350
HP:0001699	Sudden death	4000	LMNA	OMIM:115200
HP:0001699	Sudden death	4000	LMNA	ORPHA:98855
HP:0001699	Sudden death	4000	LMNA	ORPHA:98853
HP:0001699	Sudden death	9992	KCNE2	OMIM:613693
HP:0001699	Sudden death	9992	KCNE2	ORPHA:101016
HP:0001699	Sudden death	3753	KCNE1	OMIM:613695
HP:0001699	Sudden death	3753	KCNE1	ORPHA:101016
HP:0001699	Sudden death	3753	KCNE1	OMIM:612347
HP:0001699	Sudden death	8048	CSRP3	OMIM:612124
HP:0001699	Sudden death	4625	MYH7	ORPHA:1880
HP:0001699	Sudden death	4625	MYH7	OMIM:613426
HP:0001699	Sudden death	6804	STX1A	ORPHA:904
HP:0001699	Sudden death	7461	CLIP2	ORPHA:904
HP:0001699	Sudden death	84277	DNAJC30	ORPHA:904
HP:0001699	Sudden death	8468	FKBP6	ORPHA:904
HP:0001699	Sudden death	5982	RFC2	ORPHA:904
HP:0001699	Sudden death	2969	GTF2I	ORPHA:904
HP:0001699	Sudden death	3984	LIMK1	ORPHA:904
HP:0001699	Sudden death	9569	GTF2IRD1	ORPHA:904
HP:0001699	Sudden death	155382	VPS37D	ORPHA:904
HP:0001699	Sudden death	155368	METTL27	ORPHA:904
HP:0001699	Sudden death	114049	BUD23	ORPHA:904
HP:0001699	Sudden death	7458	EIF4H	ORPHA:904
HP:0001699	Sudden death	84163	GTF2IRD2	ORPHA:904
HP:0001699	Sudden death	9275	BCL7B	ORPHA:904
HP:0001699	Sudden death	26608	TBL2	ORPHA:904
HP:0001699	Sudden death	653361	NCF1	ORPHA:904
HP:0001699	Sudden death	135886	TMEM270	ORPHA:904
HP:0001699	Sudden death	51085	MLXIPL	ORPHA:904
HP:0001699	Sudden death	9031	BAZ1B	ORPHA:904
HP:0001699	Sudden death	2006	ELN	ORPHA:904
HP:0001699	Sudden death	775	CACNA1C	OMIM:611875
HP:0001699	Sudden death	775	CACNA1C	ORPHA:101016
HP:0001699	Sudden death	775	CACNA1C	OMIM:618447
HP:0001699	Sudden death	7454	WAS	ORPHA:906
HP:0001699	Sudden death	7456	WIPF1	ORPHA:906
HP:0001699	Sudden death	3757	KCNH2	OMIM:609620
HP:0001699	Sudden death	3757	KCNH2	ORPHA:101016
HP:0001699	Sudden death	3757	KCNH2	OMIM:613688
HP:0001699	Sudden death	3757	KCNH2	ORPHA:51083
HP:0001699	Sudden death	7134	TNNC1	OMIM:611879
HP:0001699	Sudden death	6262	RYR2	OMIM:604772
HP:0001699	Sudden death	6262	RYR2	ORPHA:3286
HP:0001699	Sudden death	6262	RYR2	OMIM:115000
HP:0001699	Sudden death	845	CASQ2	OMIM:604772
HP:0001699	Sudden death	845	CASQ2	ORPHA:3286
HP:0001699	Sudden death	10345	TRDN	OMIM:604772
HP:0001699	Sudden death	10345	TRDN	ORPHA:101016
HP:0001699	Sudden death	10345	TRDN	ORPHA:3286
HP:0001699	Sudden death	3784	KCNQ1	OMIM:609621
HP:0001699	Sudden death	3784	KCNQ1	OMIM:192500
HP:0001699	Sudden death	3784	KCNQ1	OMIM:607554
HP:0001699	Sudden death	3784	KCNQ1	ORPHA:101016
HP:0001699	Sudden death	3784	KCNQ1	OMIM:220400
HP:0001699	Sudden death	3784	KCNQ1	ORPHA:51083
HP:0001699	Sudden death	7043	TGFB3	OMIM:107970
HP:0001699	Sudden death	4040	LRP6	OMIM:610947
HP:0001699	Sudden death	5728	PTEN	ORPHA:744
HP:0001699	Sudden death	207	AKT1	ORPHA:744
HP:0001699	Sudden death	10021	HCN4	OMIM:163800
HP:0001699	Sudden death	79188	TMEM43	OMIM:604400
HP:0001699	Sudden death	79188	TMEM43	ORPHA:98853
HP:0001699	Sudden death	1837	DTNA	OMIM:604169
HP:0001699	Sudden death	3728	JUP	OMIM:601214
HP:0001699	Sudden death	3728	JUP	ORPHA:34217
HP:0001699	Sudden death	80206	FHOD3	OMIM:619402
HP:0001699	Sudden death	1829	DSG2	OMIM:610193
HP:0001699	Sudden death	27068	PPA2	OMIM:617222
HP:0001699	Sudden death	287	ANK2	OMIM:600919
HP:0001699	Sudden death	287	ANK2	ORPHA:101016
HP:0001699	Sudden death	131118	DNAJC19	OMIM:610198
HP:0001699	Sudden death	1824	DSC2	OMIM:610476
HP:0001699	Sudden death	54800	KLHL24	OMIM:620236
HP:0001699	Sudden death	11155	LDB3	OMIM:601493
HP:0001699	Sudden death	26154	ABCA12	ORPHA:457
HP:0001699	Sudden death	7139	TNNT2	OMIM:601494
HP:0001699	Sudden death	6508	SLC4A3	OMIM:620231
HP:0001699	Sudden death	6508	SLC4A3	ORPHA:51083
HP:0001699	Sudden death	801	CALM1	OMIM:614916
HP:0001699	Sudden death	801	CALM1	ORPHA:101016
HP:0001699	Sudden death	801	CALM1	ORPHA:3286
HP:0001699	Sudden death	3949	LDLR	ORPHA:391665
HP:0001699	Sudden death	255738	PCSK9	ORPHA:391665
HP:0001699	Sudden death	26119	LDLRAP1	ORPHA:391665
HP:0001699	Sudden death	338	APOB	ORPHA:391665
HP:0001699	Sudden death	64240	ABCG5	ORPHA:391665
HP:0001699	Sudden death	64241	ABCG8	ORPHA:391665
HP:0001699	Sudden death	3762	KCNJ5	ORPHA:101016
HP:0001699	Sudden death	805	CALM2	ORPHA:101016
HP:0001699	Sudden death	805	CALM2	ORPHA:3286
HP:0001699	Sudden death	6910	TBX5	ORPHA:101016
HP:0001699	Sudden death	6336	SCN10A	ORPHA:101016
HP:0001699	Sudden death	10142	AKAP9	ORPHA:101016
HP:0001699	Sudden death	9722	NOS1AP	ORPHA:101016
HP:0001699	Sudden death	6330	SCN4B	ORPHA:101016
HP:0001699	Sudden death	6330	SCN4B	OMIM:611819
HP:0001699	Sudden death	808	CALM3	ORPHA:101016
HP:0001699	Sudden death	808	CALM3	ORPHA:3286
HP:0001699	Sudden death	6640	SNTA1	ORPHA:101016
HP:0001699	Sudden death	859	CAV3	ORPHA:101016
HP:0001699	Sudden death	4633	MYL2	OMIM:608758
HP:0001699	Sudden death	10320	IKZF1	ORPHA:36426
HP:0001699	Sudden death	7137	TNNI3	OMIM:115210
HP:0001699	Sudden death	9631	NUP155	OMIM:615770
HP:0001699	Sudden death	5318	PKP2	OMIM:609040
HP:0001699	Sudden death	1674	DES	ORPHA:98909
HP:0001699	Sudden death	5236	PGM1	OMIM:614921
HP:0001699	Sudden death	51422	PRKAG2	OMIM:194200
HP:0001699	Sudden death	253017	TECRL	ORPHA:3286
HP:0001699	Sudden death	23171	GPD1L	OMIM:611777
HP:0001699	Sudden death	2010	EMD	OMIM:310300
HP:0001699	Sudden death	2010	EMD	ORPHA:98863
HP:0001699	Sudden death	4634	MYL3	OMIM:608751
HP:0001699	Sudden death	55750	AGK	OMIM:212350
HP:0001699	Sudden death	51778	MYOZ2	OMIM:613838
HP:0001699	Sudden death	2273	FHL1	ORPHA:98863
HP:0001699	Sudden death	23529	CLCF1	ORPHA:1545
HP:0001699	Sudden death	9244	CRLF1	ORPHA:1545
HP:0001699	Sudden death	2070	EYA4	OMIM:605362
HP:0001699	Sudden death	2771	GNAI2	OMIM:192605
HP:0001699	Sudden death	2318	FLNC	OMIM:617047
HP:0001699	Sudden death	2783	GNB2	OMIM:619464
HP:0001699	Sudden death	144245	ALG10B	OMIM:613688
HP:0001699	Sudden death	221496	LEMD2	OMIM:212500
HP:0001699	Sudden death	5167	ENPP1	ORPHA:758
HP:0001699	Sudden death	368	ABCC6	ORPHA:758
HP:0001699	Sudden death	28976	ACAD9	ORPHA:99901
HP:0001699	Sudden death	781	CACNA2D1	ORPHA:51083
HP:0001699	Sudden death	3759	KCNJ2	ORPHA:51083
HP:0001699	Sudden death	1804	DPP6	OMIM:612956
HP:0001699	Sudden death	6444	SGCD	OMIM:606685
HP:0001699	Sudden death	7273	TTN	OMIM:611705
HP:0001699	Sudden death	1832	DSP	OMIM:607450
HP:0001699	Sudden death	23345	SYNE1	ORPHA:98853
HP:0001699	Sudden death	23224	SYNE2	ORPHA:98853
HP:0001699	Sudden death	50964	SOST	OMIM:269500
HP:0001699	Sudden death	23118	TAB2	ORPHA:228410
HP:0001699	Sudden death	7259	TSPYL1	OMIM:608800
HP:0001699	Sudden death	4624	MYH6	OMIM:192600
HP:0001699	Sudden death	85366	MYLK2	OMIM:192600
HP:0001699	Sudden death	4638	MYLK	OMIM:613780
HP:0001699	Sudden death	4088	SMAD3	OMIM:613795
HP:0001699	Sudden death	3265	HRAS	OMIM:218040
HP:0001699	Sudden death	3030	HADHA	OMIM:609016
HP:0001699	Sudden death	10815	CPLX1	OMIM:617976
HP:0001699	Sudden death	6334	SCN8A	OMIM:614558
HP:0001699	Sudden death	6323	SCN1A	OMIM:619317
HP:0001699	Sudden death	55164	SHQ1	OMIM:619922
HP:0001699	Sudden death	57465	TBC1D24	OMIM:615338
HP:0001699	Sudden death	60558	GUF1	OMIM:617065
HP:0001699	Sudden death	9896	FIG4	OMIM:612691
HP:0001699	Sudden death	55148	UBR7	OMIM:619189
HP:0000823	Delayed puberty	9663	LPIN2	OMIM:609628
HP:0000823	Delayed puberty	2260	FGFR1	ORPHA:432
HP:0000823	Delayed puberty	2260	FGFR1	OMIM:147950
HP:0000823	Delayed puberty	2260	FGFR1	ORPHA:478
HP:0000823	Delayed puberty	81848	SPRY4	ORPHA:432
HP:0000823	Delayed puberty	81848	SPRY4	ORPHA:478
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:432
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:95496
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:478
HP:0000823	Delayed puberty	2253	FGF8	ORPHA:432
HP:0000823	Delayed puberty	2253	FGF8	OMIM:612702
HP:0000823	Delayed puberty	2253	FGF8	ORPHA:478
HP:0000823	Delayed puberty	60675	PROK2	ORPHA:432
HP:0000823	Delayed puberty	60675	PROK2	ORPHA:478
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:432
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:138
HP:0000823	Delayed puberty	55636	CHD7	OMIM:214800
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:478
HP:0000823	Delayed puberty	6870	TACR3	ORPHA:432
HP:0000823	Delayed puberty	6870	TACR3	ORPHA:478
HP:0000823	Delayed puberty	1848	DUSP6	ORPHA:432
HP:0000823	Delayed puberty	1848	DUSP6	ORPHA:478
HP:0000823	Delayed puberty	26012	NSMF	ORPHA:432
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:432
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:95496
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:478
HP:0000823	Delayed puberty	9394	HS6ST1	ORPHA:432
HP:0000823	Delayed puberty	9394	HS6ST1	ORPHA:478
HP:0000823	Delayed puberty	2796	GNRH1	ORPHA:432
HP:0000823	Delayed puberty	2796	GNRH1	OMIM:614841
HP:0000823	Delayed puberty	2798	GNRHR	ORPHA:432
HP:0000823	Delayed puberty	84634	KISS1R	ORPHA:432
HP:0000823	Delayed puberty	6866	TAC3	ORPHA:432
HP:0000823	Delayed puberty	8822	FGF17	ORPHA:432
HP:0000823	Delayed puberty	8822	FGF17	OMIM:615270
HP:0000823	Delayed puberty	8822	FGF17	ORPHA:478
HP:0000823	Delayed puberty	3814	KISS1	ORPHA:432
HP:0000823	Delayed puberty	1497	CTNS	OMIM:219800
HP:0000823	Delayed puberty	8450	CUL4B	OMIM:300354
HP:0000823	Delayed puberty	2245	FGD1	OMIM:305400
HP:0000823	Delayed puberty	9210	BMP15	OMIM:300510
HP:0000823	Delayed puberty	9210	BMP15	ORPHA:243
HP:0000823	Delayed puberty	5122	PCSK1	ORPHA:71528
HP:0000823	Delayed puberty	6938	TCF12	OMIM:619718
HP:0000823	Delayed puberty	6885	MAP3K7	OMIM:617137
HP:0000823	Delayed puberty	6777	STAT5B	OMIM:618985
HP:0000823	Delayed puberty	3643	INSR	ORPHA:2297
HP:0000823	Delayed puberty	5443	POMC	ORPHA:71526
HP:0000823	Delayed puberty	125150	ZSWIM7	OMIM:619834
HP:0000823	Delayed puberty	125150	ZSWIM7	ORPHA:243
HP:0000823	Delayed puberty	2542	SLC37A4	OMIM:232220
HP:0000823	Delayed puberty	2542	SLC37A4	ORPHA:79259
HP:0000823	Delayed puberty	2542	SLC37A4	OMIM:232240
HP:0000823	Delayed puberty	7681	MKRN3	OMIM:176270
HP:0000823	Delayed puberty	3653	IPW	OMIM:176270
HP:0000823	Delayed puberty	54551	MAGEL2	OMIM:176270
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:177904
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:177901
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:98754
HP:0000823	Delayed puberty	791114	PWRN1	OMIM:176270
HP:0000823	Delayed puberty	100033413	SNORD116-1	OMIM:176270
HP:0000823	Delayed puberty	8924	HERC2	OMIM:176270
HP:0000823	Delayed puberty	145624	PWAR1	OMIM:176270
HP:0000823	Delayed puberty	23742	NPAP1	OMIM:176270
HP:0000823	Delayed puberty	338433	SNORD115-1	OMIM:176270
HP:0000823	Delayed puberty	5447	POR	ORPHA:95699
HP:0000823	Delayed puberty	4312	MMP1	ORPHA:79408
HP:0000823	Delayed puberty	1294	COL7A1	ORPHA:79408
HP:0000823	Delayed puberty	1294	COL7A1	ORPHA:89842
HP:0000823	Delayed puberty	2099	ESR1	OMIM:615363
HP:0000823	Delayed puberty	1528	CYB5A	ORPHA:90796
HP:0000823	Delayed puberty	1586	CYP17A1	ORPHA:90796
HP:0000823	Delayed puberty	1586	CYP17A1	ORPHA:90793
HP:0000823	Delayed puberty	4221	MEN1	ORPHA:2965
HP:0000823	Delayed puberty	64072	CDH23	ORPHA:2965
HP:0000823	Delayed puberty	64072	CDH23	ORPHA:91347
HP:0000823	Delayed puberty	9049	AIP	ORPHA:2965
HP:0000823	Delayed puberty	472	ATM	OMIM:208900
HP:0000823	Delayed puberty	472	ATM	ORPHA:100
HP:0000823	Delayed puberty	1363	CPE	OMIM:619326
HP:0000823	Delayed puberty	56945	MRPS22	OMIM:618117
HP:0000823	Delayed puberty	56945	MRPS22	ORPHA:243
HP:0000823	Delayed puberty	2314	FLII	ORPHA:819
HP:0000823	Delayed puberty	23096	IQSEC2	ORPHA:819
HP:0000823	Delayed puberty	10743	RAI1	ORPHA:819
HP:0000823	Delayed puberty	10522	DEAF1	ORPHA:819
HP:0000823	Delayed puberty	10908	PNPLA6	OMIM:275400
HP:0000823	Delayed puberty	9723	SEMA3E	ORPHA:138
HP:0000823	Delayed puberty	4952	OCRL	ORPHA:534
HP:0000823	Delayed puberty	6926	TBX3	ORPHA:3138
HP:0000823	Delayed puberty	6926	TBX3	OMIM:181450
HP:0000823	Delayed puberty	2592	GALT	ORPHA:79239
HP:0000823	Delayed puberty	114548	NLRP3	ORPHA:575
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:177904
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:177901
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:98754
HP:0000823	Delayed puberty	4692	NDN	ORPHA:177904
HP:0000823	Delayed puberty	4692	NDN	ORPHA:177901
HP:0000823	Delayed puberty	4692	NDN	ORPHA:98754
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:177904
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:177901
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:98754
HP:0000823	Delayed puberty	6609	SMPD1	ORPHA:77293
HP:0000823	Delayed puberty	6772	STAT1	OMIM:614162
HP:0000823	Delayed puberty	6772	STAT1	ORPHA:391487
HP:0000823	Delayed puberty	6884	TAF13	OMIM:617432
HP:0000823	Delayed puberty	7040	TGFB1	OMIM:131300
HP:0000823	Delayed puberty	7040	TGFB1	ORPHA:1328
HP:0000823	Delayed puberty	3483	IGFALS	ORPHA:140941
HP:0000823	Delayed puberty	3483	IGFALS	OMIM:615961
HP:0000823	Delayed puberty	29893	PSMC3IP	OMIM:614324
HP:0000823	Delayed puberty	29893	PSMC3IP	ORPHA:243
HP:0000823	Delayed puberty	2538	G6PC1	OMIM:232200
HP:0000823	Delayed puberty	55366	LGR4	OMIM:619613
HP:0000823	Delayed puberty	3953	LEPR	OMIM:614963
HP:0000823	Delayed puberty	79184	BRCC3	ORPHA:280679
HP:0000823	Delayed puberty	3117	HLA-DQA1	OMIM:212750
HP:0000823	Delayed puberty	3119	HLA-DQB1	OMIM:212750
HP:0000823	Delayed puberty	2717	GLA	ORPHA:324
HP:0000823	Delayed puberty	2717	GLA	OMIM:301500
HP:0000823	Delayed puberty	157680	VPS13B	OMIM:216550
HP:0000823	Delayed puberty	157680	VPS13B	ORPHA:193
HP:0000823	Delayed puberty	80324	PUS1	OMIM:600462
HP:0000823	Delayed puberty	80324	PUS1	ORPHA:2598
HP:0000823	Delayed puberty	1583	CYP11A1	ORPHA:289548
HP:0000823	Delayed puberty	1583	CYP11A1	ORPHA:168558
HP:0000823	Delayed puberty	51651	PTRH2	ORPHA:456312
HP:0000823	Delayed puberty	51651	PTRH2	OMIM:616263
HP:0000823	Delayed puberty	833	CARS1	OMIM:618891
HP:0000823	Delayed puberty	6662	SOX9	ORPHA:251510
HP:0000823	Delayed puberty	6845	VAMP7	ORPHA:251510
HP:0000823	Delayed puberty	51741	WWOX	ORPHA:251510
HP:0000823	Delayed puberty	4214	MAP3K1	ORPHA:251510
HP:0000823	Delayed puberty	2516	NR5A1	ORPHA:251510
HP:0000823	Delayed puberty	2516	NR5A1	ORPHA:243
HP:0000823	Delayed puberty	7490	WT1	ORPHA:251510
HP:0000823	Delayed puberty	58524	DMRT3	ORPHA:251510
HP:0000823	Delayed puberty	57647	DHX37	ORPHA:251510
HP:0000823	Delayed puberty	6736	SRY	ORPHA:251510
HP:0000823	Delayed puberty	6736	SRY	ORPHA:1772
HP:0000823	Delayed puberty	23414	ZFPM2	ORPHA:251510
HP:0000823	Delayed puberty	190	NR0B1	ORPHA:251510
HP:0000823	Delayed puberty	190	NR0B1	OMIM:300200
HP:0000823	Delayed puberty	2626	GATA4	ORPHA:251510
HP:0000823	Delayed puberty	4853	NOTCH2	ORPHA:955
HP:0000823	Delayed puberty	374393	FAM111B	OMIM:615704
HP:0000823	Delayed puberty	4763	NF1	ORPHA:97685
HP:0000823	Delayed puberty	1499	CTNNB1	ORPHA:54595
HP:0000823	Delayed puberty	673	BRAF	ORPHA:54595
HP:0000823	Delayed puberty	23476	BRD4	ORPHA:199
HP:0000823	Delayed puberty	9126	SMC3	ORPHA:199
HP:0000823	Delayed puberty	8243	SMC1A	ORPHA:199
HP:0000823	Delayed puberty	25836	NIPBL	ORPHA:199
HP:0000823	Delayed puberty	55869	HDAC8	ORPHA:199
HP:0000823	Delayed puberty	5885	RAD21	ORPHA:199
HP:0000823	Delayed puberty	55131	RBM28	ORPHA:157954
HP:0000823	Delayed puberty	55131	RBM28	OMIM:612079
HP:0000823	Delayed puberty	953	ENTPD1	ORPHA:401810
HP:0000823	Delayed puberty	953	ENTPD1	OMIM:615683
HP:0000823	Delayed puberty	10043	TOM1	ORPHA:391487
HP:0000823	Delayed puberty	84265	POLR3GL	OMIM:619234
HP:0000823	Delayed puberty	23767	FLRT3	OMIM:615271
HP:0000823	Delayed puberty	23767	FLRT3	ORPHA:478
HP:0000823	Delayed puberty	3043	HBB	ORPHA:231214
HP:0000823	Delayed puberty	3043	HBB	ORPHA:231226
HP:0000823	Delayed puberty	6711	SPTBN1	OMIM:619475
HP:0000823	Delayed puberty	6774	STAT3	OMIM:615952
HP:0000823	Delayed puberty	8239	USP9X	ORPHA:480880
HP:0000823	Delayed puberty	493856	CISD2	ORPHA:3463
HP:0000823	Delayed puberty	7466	WFS1	ORPHA:3463
HP:0000823	Delayed puberty	7466	WFS1	ORPHA:411590
HP:0000823	Delayed puberty	6134	RPL10	ORPHA:459070
HP:0000823	Delayed puberty	80067	DCAF17	ORPHA:3464
HP:0000823	Delayed puberty	89884	LHX4	ORPHA:95496
HP:0000823	Delayed puberty	89884	LHX4	ORPHA:95494
HP:0000823	Delayed puberty	6091	ROBO1	ORPHA:95496
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:95496
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:95494
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:478
HP:0000823	Delayed puberty	50937	CDON	ORPHA:95496
HP:0000823	Delayed puberty	23432	GPR161	ORPHA:95496
HP:0000823	Delayed puberty	11128	POLR3A	ORPHA:447896
HP:0000823	Delayed puberty	11128	POLR3A	OMIM:607694
HP:0000823	Delayed puberty	2132	EXT2	ORPHA:52022
HP:0000823	Delayed puberty	60529	ALX4	ORPHA:52022
HP:0000823	Delayed puberty	51317	PHF21A	ORPHA:52022
HP:0000823	Delayed puberty	55210	ATAD3A	ORPHA:496790
HP:0000823	Delayed puberty	5626	PROP1	ORPHA:95494
HP:0000823	Delayed puberty	5626	PROP1	ORPHA:90695
HP:0000823	Delayed puberty	2736	GLI2	ORPHA:95494
HP:0000823	Delayed puberty	3170	FOXA2	ORPHA:95494
HP:0000823	Delayed puberty	5449	POU1F1	ORPHA:95494
HP:0000823	Delayed puberty	5015	OTX2	ORPHA:95494
HP:0000823	Delayed puberty	26137	ZBTB20	OMIM:259050
HP:0000823	Delayed puberty	4841	NONO	OMIM:300967
HP:0000823	Delayed puberty	4841	NONO	ORPHA:466791
HP:0000823	Delayed puberty	3972	LHB	OMIM:228300
HP:0000823	Delayed puberty	79983	POF1B	OMIM:300604
HP:0000823	Delayed puberty	59336	PRDM13	OMIM:619761
HP:0000823	Delayed puberty	226	ALDOA	OMIM:611881
HP:0000823	Delayed puberty	6299	SALL1	ORPHA:857
HP:0000823	Delayed puberty	51339	DACT1	ORPHA:857
HP:0000823	Delayed puberty	84919	PPP1R15B	OMIM:616817
HP:0000823	Delayed puberty	84919	PPP1R15B	ORPHA:391408
HP:0000823	Delayed puberty	84295	PHF6	OMIM:301900
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:2072
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:77261
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:77259
HP:0000823	Delayed puberty	1984	EIF5A	OMIM:619376
HP:0000823	Delayed puberty	5236	PGM1	OMIM:614921
HP:0000823	Delayed puberty	695	BTK	OMIM:307200
HP:0000823	Delayed puberty	4693	NDP	ORPHA:649
HP:0000823	Delayed puberty	5836	PYGL	ORPHA:369
HP:0000823	Delayed puberty	51067	YARS2	ORPHA:2598
HP:0000823	Delayed puberty	22930	RAB3GAP1	ORPHA:2510
HP:0000823	Delayed puberty	25782	RAB3GAP2	ORPHA:2510
HP:0000823	Delayed puberty	22931	RAB18	ORPHA:2510
HP:0000823	Delayed puberty	128637	TBC1D20	ORPHA:2510
HP:0000823	Delayed puberty	171568	POLR3H	ORPHA:243
HP:0000823	Delayed puberty	57122	NUP107	ORPHA:243
HP:0000823	Delayed puberty	23514	SPIDR	ORPHA:243
HP:0000823	Delayed puberty	23514	SPIDR	OMIM:619665
HP:0000823	Delayed puberty	2492	FSHR	ORPHA:243
HP:0000823	Delayed puberty	646	BNC1	ORPHA:243
HP:0000823	Delayed puberty	1968	EIF2S3	OMIM:300148
HP:0000823	Delayed puberty	5256	PHKA2	ORPHA:264580
HP:0000823	Delayed puberty	5261	PHKG2	ORPHA:264580
HP:0000823	Delayed puberty	55315	SLC29A3	ORPHA:168569
HP:0000823	Delayed puberty	51053	GMNN	OMIM:616835
HP:0000823	Delayed puberty	6559	SLC12A3	OMIM:263800
HP:0000823	Delayed puberty	6559	SLC12A3	ORPHA:358
HP:0000823	Delayed puberty	6307	MSMO1	OMIM:616834
HP:0000823	Delayed puberty	6664	SOX11	OMIM:615866
HP:0000823	Delayed puberty	2693	GHSR	ORPHA:314811
HP:0000823	Delayed puberty	367	AR	ORPHA:99429
HP:0000823	Delayed puberty	9325	TRIP4	ORPHA:486815
HP:0000823	Delayed puberty	1188	CLCNKB	ORPHA:358
HP:0000823	Delayed puberty	10371	SEMA3A	ORPHA:478
HP:0000823	Delayed puberty	79625	NDNF	ORPHA:478
HP:0000823	Delayed puberty	389549	FEZF1	ORPHA:478
HP:0000823	Delayed puberty	1630	DCC	ORPHA:478
HP:0000823	Delayed puberty	3730	ANOS1	ORPHA:478
HP:0000823	Delayed puberty	54756	IL17RD	ORPHA:478
HP:0000823	Delayed puberty	6663	SOX10	ORPHA:478
HP:0000823	Delayed puberty	285025	CCDC141	ORPHA:478
HP:0000823	Delayed puberty	6658	SOX3	ORPHA:90695
HP:0000823	Delayed puberty	950	SCARB2	ORPHA:77259
HP:0000823	Delayed puberty	55703	POLR3B	OMIM:607694
HP:0000823	Delayed puberty	10273	STUB1	ORPHA:412057
HP:0000823	Delayed puberty	5192	PEX10	OMIM:614871
HP:0000823	Delayed puberty	4000	LMNA	ORPHA:740
HP:0000823	Delayed puberty	10269	ZMPSTE24	ORPHA:740
HP:0000823	Delayed puberty	10165	SLC25A13	ORPHA:247585
HP:0000823	Delayed puberty	7840	ALMS1	ORPHA:64
HP:0000823	Delayed puberty	10059	DNM1L	ORPHA:330050
HP:0000823	Delayed puberty	2488	FSHB	ORPHA:52901
HP:0000823	Delayed puberty	2690	GHR	OMIM:262500
HP:0000823	Delayed puberty	5781	PTPN11	OMIM:151100
HP:0000823	Delayed puberty	80152	CENPT	OMIM:618702
HP:0000823	Delayed puberty	93587	TRMT10A	OMIM:616033
HP:0008855	Moderate postnatal growth retardation	6524	SLC5A2	ORPHA:69076
HP:0008857	Neonatal short-trunk short stature	3835	KIF22	ORPHA:93360
HP:0008857	Neonatal short-trunk short stature	1280	COL2A1	OMIM:183900
HP:0008857	Neonatal short-trunk short stature	2317	FLNB	ORPHA:1190
HP:0000845	Elevated circulating growth hormone concentration	5573	PRKAR1A	OMIM:160980
HP:0000845	Elevated circulating growth hormone concentration	5573	PRKAR1A	ORPHA:1359
HP:0000845	Elevated circulating growth hormone concentration	5373	PMM2	ORPHA:79318
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	OMIM:131100
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:99725
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	OMIM:610755
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	ORPHA:276152
HP:0000845	Elevated circulating growth hormone concentration	1026	CDKN1A	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1030	CDKN2B	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1031	CDKN2C	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	2778	GNAS	OMIM:174800
HP:0000845	Elevated circulating growth hormone concentration	2778	GNAS	ORPHA:562
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	ORPHA:963
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	OMIM:300943
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	OMIM:300942
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:963
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	OMIM:102200
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:99725
HP:0000845	Elevated circulating growth hormone concentration	3248	HPGD	ORPHA:2796
HP:0000845	Elevated circulating growth hormone concentration	6578	SLCO2A1	ORPHA:2796
HP:0000845	Elevated circulating growth hormone concentration	3767	KCNJ11	ORPHA:79644
HP:0000845	Elevated circulating growth hormone concentration	3479	IGF1	OMIM:608747
HP:0000845	Elevated circulating growth hormone concentration	64072	CDH23	ORPHA:91347
HP:0000845	Elevated circulating growth hormone concentration	64072	CDH23	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	50940	PDE11A	ORPHA:1359
HP:0034706	Reduced hepatic D-glycerate kinase activity	132158	GLYCTK	OMIM:220120
HP:0008883	Mild intrauterine growth retardation	50814	NSDHL	OMIM:308050
HP:0008883	Mild intrauterine growth retardation	2961	GTF2E2	OMIM:616943
HP:0008866	Failure to thrive secondary to recurrent infections	5896	RAG1	OMIM:601457
HP:0008866	Failure to thrive secondary to recurrent infections	5897	RAG2	OMIM:601457
HP:0008866	Failure to thrive secondary to recurrent infections	915	CD3D	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	916	CD3E	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	919	CD247	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	3575	IL7R	OMIM:608971
HP:0034719	Lack of oocyte pronucleus formation	494551	WEE2	OMIM:617996
HP:0034713	Abnormal hepatocyte morphology	54914	FOCAD	OMIM:619991
HP:0034713	Abnormal hepatocyte morphology	10165	SLC25A13	OMIM:603471
HP:0034713	Abnormal hepatocyte morphology	26276	VPS33B	OMIM:208085
HP:0034712	Decreased alpha-mannosidase activity	4125	MAN2B1	OMIM:248500
HP:0034715	Reduced uroporphyrinogen decarboxylase activity	7389	UROD	OMIM:176100
HP:0034715	Reduced uroporphyrinogen decarboxylase activity	3077	HFE	OMIM:176100
HP:0034714	Hepatic melanin-like lysosomal pigmentation	26276	VPS33B	OMIM:208085
HP:0008915	Childhood-onset truncal obesity	5122	PCSK1	ORPHA:71528
HP:0008915	Childhood-onset truncal obesity	4160	MC4R	ORPHA:71529
HP:0008915	Childhood-onset truncal obesity	56623	INPP5E	OMIM:610156
HP:0008915	Childhood-onset truncal obesity	5443	POMC	ORPHA:71526
HP:0008915	Childhood-onset truncal obesity	157680	VPS13B	OMIM:216550
HP:0034728	Abnormal alpha-L-fucosidase activity	2517	FUCA1	OMIM:230000
HP:0034727	Reduced alpha-L-fucosidase activity	2517	FUCA1	OMIM:230000
HP:0034721	Elevated circulating pristanic acid concentration	6342	SCP2	OMIM:613724
HP:0034725	Abnormal beta-mannosidase activity	4126	MANBA	OMIM:248510
HP:0034730	Elevated circulating S-adenosyl-L-homocysteine concentration	132	ADK	OMIM:614300
HP:0001956	Truncal obesity	23476	BRD4	ORPHA:199
HP:0001956	Truncal obesity	9126	SMC3	ORPHA:199
HP:0001956	Truncal obesity	8243	SMC1A	ORPHA:199
HP:0001956	Truncal obesity	25836	NIPBL	ORPHA:199
HP:0001956	Truncal obesity	55869	HDAC8	ORPHA:199
HP:0001956	Truncal obesity	55869	HDAC8	OMIM:300882
HP:0001956	Truncal obesity	55869	HDAC8	ORPHA:3459
HP:0001956	Truncal obesity	5885	RAD21	ORPHA:199
HP:0001956	Truncal obesity	3479	IGF1	ORPHA:73272
HP:0001956	Truncal obesity	7840	ALMS1	ORPHA:64
HP:0001956	Truncal obesity	7840	ALMS1	OMIM:203800
HP:0001956	Truncal obesity	11253	MAN1B1	ORPHA:397941
HP:0001956	Truncal obesity	11253	MAN1B1	OMIM:614202
HP:0001956	Truncal obesity	23394	ADNP	ORPHA:404448
HP:0001956	Truncal obesity	23394	ADNP	OMIM:615873
HP:0001956	Truncal obesity	57187	THOC2	OMIM:300957
HP:0001956	Truncal obesity	1387	CREBBP	OMIM:180849
HP:0001956	Truncal obesity	2033	EP300	OMIM:180849
HP:0001956	Truncal obesity	2778	GNAS	OMIM:219080
HP:0001956	Truncal obesity	388015	RTL1	ORPHA:96184
HP:0001956	Truncal obesity	8788	DLK1	ORPHA:96184
HP:0001956	Truncal obesity	55384	MEG3	ORPHA:96184
HP:0001956	Truncal obesity	26137	ZBTB20	OMIM:259050
HP:0001956	Truncal obesity	755	CFAP410	OMIM:617547
HP:0001956	Truncal obesity	81887	LAS1L	ORPHA:3459
HP:0001956	Truncal obesity	50940	PDE11A	OMIM:610475
HP:0001956	Truncal obesity	55599	RNPC3	OMIM:618160
HP:0001956	Truncal obesity	84196	USP48	ORPHA:96253
HP:0001956	Truncal obesity	7157	TP53	ORPHA:96253
HP:0001956	Truncal obesity	9101	USP8	ORPHA:96253
HP:0001956	Truncal obesity	64072	CDH23	ORPHA:96253
HP:0001956	Truncal obesity	2908	NR3C1	ORPHA:96253
HP:0001956	Truncal obesity	673	BRAF	ORPHA:96253
HP:0001956	Truncal obesity	546	ATRX	ORPHA:96253
HP:0001956	Truncal obesity	83696	TRAPPC9	OMIM:613192
HP:0001956	Truncal obesity	2332	FMR1	ORPHA:261483
HP:0001956	Truncal obesity	7518	XRCC4	OMIM:616541
HP:0001956	Truncal obesity	84068	SLC10A7	OMIM:618363
HP:0001956	Truncal obesity	3483	IGFALS	ORPHA:140941
HP:0001956	Truncal obesity	5116	PCNT	ORPHA:2637
HP:0001956	Truncal obesity	5116	PCNT	OMIM:210720
HP:0001956	Truncal obesity	9149	DYRK1B	OMIM:615812
HP:0001956	Truncal obesity	64131	XYLT1	OMIM:615777
HP:0001956	Truncal obesity	64131	XYLT1	ORPHA:370930
HP:0001956	Truncal obesity	84100	ARL6	OMIM:209900
HP:0001956	Truncal obesity	79140	CCDC28B	OMIM:209900
HP:0001956	Truncal obesity	582	BBS1	OMIM:209900
HP:0001956	Truncal obesity	208	AKT2	ORPHA:293964
HP:0001956	Truncal obesity	208	AKT2	OMIM:240900
HP:0001956	Truncal obesity	5573	PRKAR1A	OMIM:610489
HP:0001956	Truncal obesity	51322	WAC	ORPHA:466950
HP:0001956	Truncal obesity	84295	PHF6	ORPHA:127
HP:0001956	Truncal obesity	9056	SLC7A7	OMIM:222700
HP:0001956	Truncal obesity	5718	PSMD12	ORPHA:529962
HP:0001956	Truncal obesity	2186	BPTF	ORPHA:529962
HP:0001956	Truncal obesity	2702	GJA5	OMIM:612474
HP:0001956	Truncal obesity	2703	GJA8	OMIM:612474
HP:0001956	Truncal obesity	27241	BBS9	OMIM:615986
HP:0001956	Truncal obesity	5277	PIGA	OMIM:301072
HP:0001956	Truncal obesity	3480	IGF1R	OMIM:270450
HP:0001956	Truncal obesity	2690	GHR	ORPHA:633
HP:0001956	Truncal obesity	5122	PCSK1	ORPHA:71528
HP:0001956	Truncal obesity	4160	MC4R	ORPHA:71529
HP:0001956	Truncal obesity	56623	INPP5E	OMIM:610156
HP:0001956	Truncal obesity	5443	POMC	ORPHA:71526
HP:0001956	Truncal obesity	157680	VPS13B	OMIM:216550
HP:0008887	Adipose tissue loss	63924	CIDEC	ORPHA:435651
HP:0008887	Adipose tissue loss	2074	ERCC6	OMIM:133540
HP:0008887	Adipose tissue loss	5468	PPARG	ORPHA:79083
HP:0008887	Adipose tissue loss	3763	KCNJ6	ORPHA:435628
HP:0008887	Adipose tissue loss	10269	ZMPSTE24	OMIM:608612
HP:0008887	Adipose tissue loss	5696	PSMB8	OMIM:256040
HP:0008887	Adipose tissue loss	1161	ERCC8	OMIM:216400
HP:0008887	Adipose tissue loss	11128	POLR3A	ORPHA:3455
HP:0008887	Adipose tissue loss	5424	POLD1	OMIM:615381
HP:0008887	Adipose tissue loss	4000	LMNA	ORPHA:740
HP:0008887	Adipose tissue loss	4000	LMNA	OMIM:176670
HP:0008887	Adipose tissue loss	857	CAV1	OMIM:606721
HP:0008887	Adipose tissue loss	5295	PIK3R1	OMIM:269880
HP:0008887	Adipose tissue loss	2068	ERCC2	OMIM:601675
HP:0008887	Adipose tissue loss	2068	ERCC2	ORPHA:33364
HP:0008887	Adipose tissue loss	5557	PRIM1	OMIM:620005
HP:0008887	Adipose tissue loss	404672	GTF2H5	ORPHA:33364
HP:0008887	Adipose tissue loss	833	CARS1	ORPHA:33364
HP:0008887	Adipose tissue loss	7737	RNF113A	ORPHA:33364
HP:0008887	Adipose tissue loss	136647	MPLKIP	ORPHA:33364
HP:0008887	Adipose tissue loss	6897	TARS1	ORPHA:33364
HP:0008887	Adipose tissue loss	2071	ERCC3	ORPHA:33364
HP:0008887	Adipose tissue loss	2961	GTF2E2	ORPHA:33364
HP:0008887	Adipose tissue loss	2072	ERCC4	OMIM:610965
HP:0008887	Adipose tissue loss	2200	FBN1	OMIM:616914
HP:0008887	Adipose tissue loss	641	BLM	ORPHA:125
HP:0008887	Adipose tissue loss	10555	AGPAT2	ORPHA:528
HP:0008887	Adipose tissue loss	284119	CAVIN1	ORPHA:528
HP:0008887	Adipose tissue loss	26580	BSCL2	ORPHA:528
HP:0008887	Adipose tissue loss	2353	FOS	ORPHA:528
HP:0008887	Adipose tissue loss	3643	INSR	OMIM:246200
HP:0008887	Adipose tissue loss	3991	LIPE	ORPHA:435660
HP:0008887	Adipose tissue loss	5346	PLIN1	ORPHA:280356
HP:0008887	Adipose tissue loss	84823	LMNB2	OMIM:608709
HP:0034731	Elevated circulating S-adenosyl-L-methionine concentration	132	ADK	OMIM:614300
HP:0034734	Elevated CSF argininosuccinic acid concentration	435	ASL	OMIM:207900
HP:0034737	Abnormal erythrocyte metabolite concentration	5213	PFKM	OMIM:232800
HP:0034737	Abnormal erythrocyte metabolite concentration	5313	PKLR	OMIM:102900
HP:0008890	Severe short-limb dwarfism	3930	LBR	OMIM:215140
HP:0008890	Severe short-limb dwarfism	3930	LBR	ORPHA:1426
HP:0008890	Severe short-limb dwarfism	2317	FLNB	ORPHA:1263
HP:0008890	Severe short-limb dwarfism	286053	NSMCE2	ORPHA:436182
HP:0008890	Severe short-limb dwarfism	7518	XRCC4	ORPHA:436182
HP:0008890	Severe short-limb dwarfism	8200	GDF5	ORPHA:968
HP:0008890	Severe short-limb dwarfism	8200	GDF5	OMIM:201250
HP:0034742	Elevated urinary formiminoglutamic acid level	10841	FTCD	OMIM:229100
HP:0034744	Elevated urinary S-sulfocysteine level	4337	MOCS1	OMIM:252150
HP:0004100	Abnormal 2nd finger morphology	658	BMPR1B	OMIM:112600
HP:0004100	Abnormal 2nd finger morphology	8200	GDF5	OMIM:112600
HP:0004100	Abnormal 2nd finger morphology	8200	GDF5	OMIM:113100
HP:0004100	Abnormal 2nd finger morphology	650	BMP2	OMIM:112600
HP:0004100	Abnormal 2nd finger morphology	51651	PTRH2	OMIM:616263
HP:0004100	Abnormal 2nd finger morphology	51651	PTRH2	ORPHA:456312
HP:0004100	Abnormal 2nd finger morphology	3209	HOXA13	OMIM:140000
HP:0004100	Abnormal 2nd finger morphology	29123	ANKRD11	OMIM:148050
HP:0004100	Abnormal 2nd finger morphology	23483	TGDS	OMIM:616145
HP:0004100	Abnormal 2nd finger morphology	3549	IHH	OMIM:112500
HP:0004100	Abnormal 2nd finger morphology	2316	FLNA	OMIM:304120
HP:0004100	Abnormal 2nd finger morphology	124583	CANT1	OMIM:251450
HP:0004100	Abnormal 2nd finger morphology	81857	MED25	ORPHA:464738
HP:0004100	Abnormal 2nd finger morphology	80207	OPA3	ORPHA:67036
HP:0004100	Abnormal 2nd finger morphology	2239	GPC4	ORPHA:373
HP:0004100	Abnormal 2nd finger morphology	2719	GPC3	ORPHA:373
HP:0004100	Abnormal 2nd finger morphology	4212	MEIS2	OMIM:600987
HP:0004100	Abnormal 2nd finger morphology	10265	IRX5	OMIM:611174
HP:0004100	Abnormal 2nd finger morphology	3955	LFNG	OMIM:609813
HP:0004100	Abnormal 2nd finger morphology	1277	COL1A1	OMIM:130060
HP:0004100	Abnormal 2nd finger morphology	6134	RPL10	OMIM:300998
HP:0004100	Abnormal 2nd finger morphology	23327	NEDD4L	OMIM:617201
HP:0004100	Abnormal 2nd finger morphology	8985	PLOD3	OMIM:612394
HP:0004100	Abnormal 2nd finger morphology	1280	COL2A1	OMIM:271700
HP:0004100	Abnormal 2nd finger morphology	727857	BHLHA9	OMIM:609432
HP:0004100	Abnormal 2nd finger morphology	9896	FIG4	OMIM:216340
HP:0004100	Abnormal 2nd finger morphology	50814	NSDHL	OMIM:308050
HP:0004100	Abnormal 2nd finger morphology	3239	HOXD13	ORPHA:93409
HP:0004100	Abnormal 2nd finger morphology	4613	MYCN	ORPHA:391641
HP:0004100	Abnormal 2nd finger morphology	10847	SRCAP	OMIM:136140
HP:0004100	Abnormal 2nd finger morphology	860	RUNX2	OMIM:119600
HP:0004100	Abnormal 2nd finger morphology	860	RUNX2	OMIM:156510
HP:0004100	Abnormal 2nd finger morphology	27152	INTU	OMIM:617926
HP:0004100	Abnormal 2nd finger morphology	56992	KIF15	ORPHA:261323
HP:0004100	Abnormal 2nd finger morphology	7291	TWIST1	OMIM:101400
HP:0004100	Abnormal 2nd finger morphology	2263	FGFR2	OMIM:101400
HP:0004100	Abnormal 2nd finger morphology	10236	HNRNPR	OMIM:620073
HP:0004100	Abnormal 2nd finger morphology	9968	MED12	ORPHA:93932
HP:0004100	Abnormal 2nd finger morphology	9742	IFT140	OMIM:266920
HP:0004100	Abnormal 2nd finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004100	Abnormal 2nd finger morphology	90417	KNSTRN	ORPHA:221139
HP:0004100	Abnormal 2nd finger morphology	22856	CHSY1	ORPHA:363417
HP:0004100	Abnormal 2nd finger morphology	55790	CSGALNACT1	OMIM:618870
HP:0034760	Reduced epidermal extracellular matrix protein 1 protein expression	1893	ECM1	OMIM:247100
HP:0034761	Neurofibroma by anatomical location	4763	NF1	ORPHA:363700
HP:0034766	Muscle fiber polyglucosan inclusion bodies	2992	GYG1	OMIM:616199
HP:0004112	Midline nasal groove	257	ALX3	ORPHA:391474
HP:0004112	Midline nasal groove	341640	FREM2	ORPHA:2052
HP:0004112	Midline nasal groove	80144	FRAS1	ORPHA:2052
HP:0004112	Midline nasal groove	80144	FRAS1	OMIM:219000
HP:0004112	Midline nasal groove	23426	GRIP1	ORPHA:2052
HP:0004122	Midline defect of the nose	257	ALX3	ORPHA:391474
HP:0004122	Midline defect of the nose	341640	FREM2	ORPHA:2052
HP:0004122	Midline defect of the nose	80144	FRAS1	ORPHA:2052
HP:0004122	Midline defect of the nose	80144	FRAS1	OMIM:219000
HP:0004122	Midline defect of the nose	23426	GRIP1	ORPHA:2052
HP:0004122	Midline defect of the nose	1947	EFNB1	ORPHA:1520
HP:0004122	Midline defect of the nose	9361	LONP1	ORPHA:1458
HP:0004122	Midline defect of the nose	5727	PTCH1	OMIM:610828
HP:0004122	Midline defect of the nose	7030	TFE3	OMIM:301066
HP:0004122	Midline defect of the nose	9496	TBX4	ORPHA:261279
HP:0004122	Midline defect of the nose	60529	ALX4	ORPHA:228390
HP:0004122	Midline defect of the nose	8092	ALX1	ORPHA:306542
HP:0004122	Midline defect of the nose	81788	NUAK2	OMIM:619452
HP:0004122	Midline defect of the nose	4763	NF1	ORPHA:139474
HP:0004122	Midline defect of the nose	158326	FREM1	ORPHA:217266
HP:0004122	Midline defect of the nose	158326	FREM1	OMIM:608980
HP:0004122	Midline defect of the nose	57688	ZSWIM6	ORPHA:1827
HP:0004122	Midline defect of the nose	57688	ZSWIM6	OMIM:603671
HP:0004122	Midline defect of the nose	26012	NSMF	OMIM:614838
HP:0004122	Midline defect of the nose	219844	HYLS1	OMIM:236680
HP:0034784	Vasculitis by anatomical site	7454	WAS	OMIM:301000
HP:0034784	Vasculitis by anatomical site	64127	NOD2	ORPHA:90340
HP:0034784	Vasculitis by anatomical site	4860	PNP	OMIM:613179
HP:0034784	Vasculitis by anatomical site	81704	DOCK8	OMIM:243700
HP:0034784	Vasculitis by anatomical site	10621	POLR3F	OMIM:619872
HP:0034784	Vasculitis by anatomical site	4210	MEFV	ORPHA:3243
HP:0034784	Vasculitis by anatomical site	4210	MEFV	OMIM:608068
HP:0034784	Vasculitis by anatomical site	1776	DNASE1L3	ORPHA:36412
HP:0034784	Vasculitis by anatomical site	6850	SYK	OMIM:619381
HP:0034784	Vasculitis by anatomical site	5238	PGM3	ORPHA:443811
HP:0034784	Vasculitis by anatomical site	5238	PGM3	OMIM:615816
HP:0034784	Vasculitis by anatomical site	10095	ARPC1B	OMIM:617718
HP:0034784	Vasculitis by anatomical site	3594	IL12RB1	ORPHA:319552
HP:0034784	Vasculitis by anatomical site	11277	TREX1	OMIM:192315
HP:0040200	Motor impersistence	5621	PRNP	ORPHA:157941
HP:0040201	Simultanapraxia	5621	PRNP	ORPHA:157941
HP:0040202	Abnormal consumption behavior	261734	NPHP4	OMIM:606996
HP:0040202	Abnormal consumption behavior	261734	NPHP4	OMIM:606966
HP:0040202	Abnormal consumption behavior	1497	CTNS	OMIM:219800
HP:0040202	Abnormal consumption behavior	1497	CTNS	ORPHA:411629
HP:0040202	Abnormal consumption behavior	1497	CTNS	ORPHA:411634
HP:0040202	Abnormal consumption behavior	359	AQP2	OMIM:125800
HP:0040202	Abnormal consumption behavior	359	AQP2	ORPHA:223
HP:0040202	Abnormal consumption behavior	54585	LZTFL1	OMIM:615994
HP:0040202	Abnormal consumption behavior	493856	CISD2	ORPHA:3463
HP:0040202	Abnormal consumption behavior	7466	WFS1	ORPHA:3463
HP:0040202	Abnormal consumption behavior	6928	HNF1B	ORPHA:93111
HP:0040202	Abnormal consumption behavior	554	AVPR2	ORPHA:223
HP:0040202	Abnormal consumption behavior	554	AVPR2	OMIM:304800
HP:0040202	Abnormal consumption behavior	3766	KCNJ10	ORPHA:199343
HP:0040202	Abnormal consumption behavior	3766	KCNJ10	OMIM:612780
HP:0040202	Abnormal consumption behavior	79577	CDC73	ORPHA:143
HP:0040202	Abnormal consumption behavior	79577	CDC73	ORPHA:99880
HP:0040202	Abnormal consumption behavior	4867	NPHP1	OMIM:266900
HP:0040202	Abnormal consumption behavior	4867	NPHP1	OMIM:256100
HP:0040202	Abnormal consumption behavior	51473	DCDC2	ORPHA:84081
HP:0040202	Abnormal consumption behavior	91147	TMEM67	ORPHA:84081
HP:0040202	Abnormal consumption behavior	91147	TMEM67	OMIM:613550
HP:0040202	Abnormal consumption behavior	10686	CLDN16	OMIM:248250
HP:0040202	Abnormal consumption behavior	3662	IRF4	ORPHA:3452
HP:0040202	Abnormal consumption behavior	199221	DZIP1L	ORPHA:731
HP:0040202	Abnormal consumption behavior	5314	PKHD1	ORPHA:731
HP:0040202	Abnormal consumption behavior	9071	CLDN10	OMIM:617671
HP:0040202	Abnormal consumption behavior	9365	KL	OMIM:617994
HP:0040202	Abnormal consumption behavior	114548	NLRP3	ORPHA:47045
HP:0040202	Abnormal consumption behavior	551	AVP	ORPHA:30925
HP:0040202	Abnormal consumption behavior	3762	KCNJ5	OMIM:613677
HP:0040202	Abnormal consumption behavior	3762	KCNJ5	ORPHA:251274
HP:0040202	Abnormal consumption behavior	3643	INSR	ORPHA:769
HP:0040202	Abnormal consumption behavior	1584	CYP11B1	ORPHA:403
HP:0040202	Abnormal consumption behavior	1585	CYP11B2	ORPHA:403
HP:0040202	Abnormal consumption behavior	3291	HSD11B2	ORPHA:320
HP:0040202	Abnormal consumption behavior	7809	BSND	OMIM:602522
HP:0040202	Abnormal consumption behavior	776	CACNA1D	ORPHA:369929
HP:0040202	Abnormal consumption behavior	254428	SLC41A1	OMIM:619468
HP:0040202	Abnormal consumption behavior	3758	KCNJ1	OMIM:241200
HP:0040202	Abnormal consumption behavior	9860	LRIG2	ORPHA:2704
HP:0040202	Abnormal consumption behavior	60495	HPSE2	ORPHA:2704
HP:0040202	Abnormal consumption behavior	6559	SLC12A3	OMIM:263800
HP:0040202	Abnormal consumption behavior	6559	SLC12A3	ORPHA:358
HP:0040202	Abnormal consumption behavior	27031	NPHP3	OMIM:604387
HP:0040202	Abnormal consumption behavior	2260	FGFR1	ORPHA:3157
HP:0040202	Abnormal consumption behavior	128674	PROKR2	ORPHA:3157
HP:0040202	Abnormal consumption behavior	6657	SOX2	ORPHA:3157
HP:0040202	Abnormal consumption behavior	6658	SOX3	ORPHA:3157
HP:0040202	Abnormal consumption behavior	9915	ARNT2	ORPHA:3157
HP:0040202	Abnormal consumption behavior	8820	HESX1	ORPHA:3157
HP:0040202	Abnormal consumption behavior	5015	OTX2	ORPHA:3157
HP:0040202	Abnormal consumption behavior	1188	CLCNKB	ORPHA:358
HP:0040202	Abnormal consumption behavior	846	CASR	OMIM:239200
HP:0040202	Abnormal consumption behavior	7840	ALMS1	ORPHA:64
HP:0040202	Abnormal consumption behavior	11253	MAN1B1	ORPHA:397941
HP:0040202	Abnormal consumption behavior	23394	ADNP	ORPHA:404448
HP:0040202	Abnormal consumption behavior	23394	ADNP	OMIM:615873
HP:0040202	Abnormal consumption behavior	6492	SIM1	ORPHA:369873
HP:0040202	Abnormal consumption behavior	6492	SIM1	ORPHA:171829
HP:0040202	Abnormal consumption behavior	6492	SIM1	ORPHA:398079
HP:0040202	Abnormal consumption behavior	26580	BSCL2	OMIM:269700
HP:0040202	Abnormal consumption behavior	4137	MAPT	OMIM:172700
HP:0040202	Abnormal consumption behavior	4137	MAPT	OMIM:600274
HP:0040202	Abnormal consumption behavior	5663	PSEN1	OMIM:172700
HP:0040202	Abnormal consumption behavior	5663	PSEN1	OMIM:600274
HP:0040202	Abnormal consumption behavior	5122	PCSK1	ORPHA:71528
HP:0040202	Abnormal consumption behavior	4160	MC4R	ORPHA:71529
HP:0040202	Abnormal consumption behavior	4160	MC4R	OMIM:618406
HP:0040202	Abnormal consumption behavior	23040	MYT1L	OMIM:616521
HP:0040202	Abnormal consumption behavior	23314	SATB2	ORPHA:251028
HP:0040202	Abnormal consumption behavior	5443	POMC	ORPHA:71526
HP:0040202	Abnormal consumption behavior	5443	POMC	OMIM:609734
HP:0040202	Abnormal consumption behavior	55777	MBD5	ORPHA:228402
HP:0040202	Abnormal consumption behavior	55777	MBD5	OMIM:156200
HP:0040202	Abnormal consumption behavior	5590	PRKCZ	ORPHA:1606
HP:0040202	Abnormal consumption behavior	2563	GABRD	ORPHA:1606
HP:0040202	Abnormal consumption behavior	23013	SPEN	ORPHA:1606
HP:0040202	Abnormal consumption behavior	8510	MMP23B	ORPHA:1606
HP:0040202	Abnormal consumption behavior	7798	LUZP1	ORPHA:1606
HP:0040202	Abnormal consumption behavior	6497	SKI	ORPHA:1606
HP:0040202	Abnormal consumption behavior	10630	PDPN	ORPHA:1606
HP:0040202	Abnormal consumption behavior	3339	HSPG2	ORPHA:1606
HP:0040202	Abnormal consumption behavior	10277	UBE4B	ORPHA:1606
HP:0040202	Abnormal consumption behavior	8514	KCNAB2	ORPHA:1606
HP:0040202	Abnormal consumption behavior	473	RERE	ORPHA:1606
HP:0040202	Abnormal consumption behavior	63976	PRDM16	ORPHA:1606
HP:0040202	Abnormal consumption behavior	54897	CASZ1	ORPHA:1606
HP:0040202	Abnormal consumption behavior	4221	MEN1	ORPHA:97279
HP:0040202	Abnormal consumption behavior	7528	YY1	ORPHA:97279
HP:0040202	Abnormal consumption behavior	7681	MKRN3	OMIM:176270
HP:0040202	Abnormal consumption behavior	3653	IPW	OMIM:176270
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	OMIM:176270
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	ORPHA:98754
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	ORPHA:177904
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	ORPHA:177901
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	ORPHA:398069
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	ORPHA:177910
HP:0040202	Abnormal consumption behavior	54551	MAGEL2	OMIM:615547
HP:0040202	Abnormal consumption behavior	791114	PWRN1	OMIM:176270
HP:0040202	Abnormal consumption behavior	100033413	SNORD116-1	OMIM:176270
HP:0040202	Abnormal consumption behavior	8924	HERC2	OMIM:176270
HP:0040202	Abnormal consumption behavior	145624	PWAR1	OMIM:176270
HP:0040202	Abnormal consumption behavior	23742	NPAP1	OMIM:176270
HP:0040202	Abnormal consumption behavior	338433	SNORD115-1	OMIM:176270
HP:0040202	Abnormal consumption behavior	2896	GRN	OMIM:607485
HP:0040202	Abnormal consumption behavior	25970	SH2B1	ORPHA:329249
HP:0040202	Abnormal consumption behavior	3952	LEP	ORPHA:66628
HP:0040202	Abnormal consumption behavior	3952	LEP	OMIM:614962
HP:0040202	Abnormal consumption behavior	6519	SLC3A1	ORPHA:163690
HP:0040202	Abnormal consumption behavior	9581	PREPL	ORPHA:163690
HP:0040202	Abnormal consumption behavior	6833	ABCC8	ORPHA:276575
HP:0040202	Abnormal consumption behavior	6638	SNRPN	ORPHA:98754
HP:0040202	Abnormal consumption behavior	6638	SNRPN	ORPHA:177904
HP:0040202	Abnormal consumption behavior	6638	SNRPN	ORPHA:177901
HP:0040202	Abnormal consumption behavior	6638	SNRPN	ORPHA:177910
HP:0040202	Abnormal consumption behavior	6638	SNRPN	ORPHA:411515
HP:0040202	Abnormal consumption behavior	4692	NDN	ORPHA:98754
HP:0040202	Abnormal consumption behavior	4692	NDN	ORPHA:177904
HP:0040202	Abnormal consumption behavior	4692	NDN	ORPHA:177901
HP:0040202	Abnormal consumption behavior	4692	NDN	ORPHA:177910
HP:0040202	Abnormal consumption behavior	4948	OCA2	ORPHA:98754
HP:0040202	Abnormal consumption behavior	4948	OCA2	ORPHA:177904
HP:0040202	Abnormal consumption behavior	4948	OCA2	ORPHA:177901
HP:0040202	Abnormal consumption behavior	3767	KCNJ11	ORPHA:276580
HP:0040202	Abnormal consumption behavior	2146	EZH2	OMIM:277590
HP:0040202	Abnormal consumption behavior	3953	LEPR	OMIM:614963
HP:0040202	Abnormal consumption behavior	3953	LEPR	ORPHA:179494
HP:0040202	Abnormal consumption behavior	80173	IFT74	OMIM:617119
HP:0040202	Abnormal consumption behavior	2778	GNAS	ORPHA:79443
HP:0040202	Abnormal consumption behavior	2778	GNAS	ORPHA:79444
HP:0040202	Abnormal consumption behavior	506	ATP5F1B	OMIM:620085
HP:0040202	Abnormal consumption behavior	10555	AGPAT2	OMIM:608594
HP:0040202	Abnormal consumption behavior	6927	HNF1A	ORPHA:324575
HP:0040202	Abnormal consumption behavior	6927	HNF1A	OMIM:222100
HP:0040202	Abnormal consumption behavior	26191	PTPN22	OMIM:222100
HP:0040202	Abnormal consumption behavior	3710	ITPR3	OMIM:222100
HP:0040202	Abnormal consumption behavior	3569	IL6	OMIM:222100
HP:0040202	Abnormal consumption behavior	4330	MN1	OMIM:618774
HP:0040202	Abnormal consumption behavior	83550	GPR101	OMIM:300942
HP:0040202	Abnormal consumption behavior	29072	SETD2	OMIM:616831
HP:0040202	Abnormal consumption behavior	109	ADCY3	OMIM:617885
HP:0040202	Abnormal consumption behavior	4915	NTRK2	OMIM:613886
HP:0040202	Abnormal consumption behavior	27241	BBS9	OMIM:615986
HP:0040202	Abnormal consumption behavior	7351	UCP2	ORPHA:276556
HP:0040202	Abnormal consumption behavior	7337	UBE3A	ORPHA:411515
HP:0040202	Abnormal consumption behavior	57194	ATP10A	ORPHA:411515
HP:0040202	Abnormal consumption behavior	6524	SLC5A2	OMIM:233100
HP:0040202	Abnormal consumption behavior	1499	CTNNB1	ORPHA:54595
HP:0040202	Abnormal consumption behavior	673	BRAF	ORPHA:54595
HP:0040202	Abnormal consumption behavior	57688	ZSWIM6	OMIM:617865
HP:0040202	Abnormal consumption behavior	283209	PGM2L1	OMIM:620191
HP:0040202	Abnormal consumption behavior	1725	DHPS	OMIM:618480
HP:0040202	Abnormal consumption behavior	55250	ELP2	OMIM:617270
HP:0040202	Abnormal consumption behavior	8621	CDK13	OMIM:617360
HP:0040202	Abnormal consumption behavior	55870	ASH1L	OMIM:617796
HP:0040202	Abnormal consumption behavior	57680	CHD8	OMIM:615032
HP:0040202	Abnormal consumption behavior	38	ACAT1	ORPHA:134
HP:0040202	Abnormal consumption behavior	6597	SMARCA4	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6598	SMARCB1	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6659	SOX4	ORPHA:1465
HP:0040202	Abnormal consumption behavior	8289	ARID1A	ORPHA:1465
HP:0040202	Abnormal consumption behavior	5977	DPF2	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6601	SMARCC2	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6602	SMARCD1	ORPHA:1465
HP:0040202	Abnormal consumption behavior	57492	ARID1B	ORPHA:1465
HP:0040202	Abnormal consumption behavior	196528	ARID2	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6605	SMARCE1	ORPHA:1465
HP:0040202	Abnormal consumption behavior	6664	SOX11	ORPHA:1465
HP:0040202	Abnormal consumption behavior	2887	GRB10	ORPHA:96182
HP:0040202	Abnormal consumption behavior	55690	PACS1	ORPHA:329224
HP:0040202	Abnormal consumption behavior	9056	SLC7A7	ORPHA:470
HP:0040202	Abnormal consumption behavior	4212	MEIS2	OMIM:600987
HP:0040202	Abnormal consumption behavior	3064	HTT	ORPHA:399
HP:0040202	Abnormal consumption behavior	6515	SLC2A3	ORPHA:399
HP:0040202	Abnormal consumption behavior	60482	SLC5A7	ORPHA:98914
HP:0040202	Abnormal consumption behavior	4649	MYO9A	ORPHA:98914
HP:0040202	Abnormal consumption behavior	1305	COL13A1	ORPHA:98914
HP:0040202	Abnormal consumption behavior	1103	CHAT	ORPHA:98914
HP:0040202	Abnormal consumption behavior	6576	SLC25A1	ORPHA:98914
HP:0040202	Abnormal consumption behavior	6843	VAMP1	ORPHA:98914
HP:0040202	Abnormal consumption behavior	375790	AGRN	ORPHA:98914
HP:0040202	Abnormal consumption behavior	127833	SYT2	ORPHA:98914
HP:0040202	Abnormal consumption behavior	6572	SLC18A3	ORPHA:98914
HP:0040202	Abnormal consumption behavior	6616	SNAP25	ORPHA:98914
HP:0040202	Abnormal consumption behavior	374879	ZNF699	OMIM:619488
HP:0040202	Abnormal consumption behavior	8398	PLA2G6	ORPHA:35069
HP:0040202	Abnormal consumption behavior	773	CACNA1A	ORPHA:98758
HP:0040202	Abnormal consumption behavior	1759	DNM1	OMIM:620352
HP:0040202	Abnormal consumption behavior	6329	SCN4A	ORPHA:99734
HP:0040202	Abnormal consumption behavior	57526	PCDH19	ORPHA:101039
HP:0040202	Abnormal consumption behavior	10165	SLC25A13	ORPHA:247585
HP:0040202	Abnormal consumption behavior	51574	LARP7	ORPHA:319671
HP:0040202	Abnormal consumption behavior	7080	NKX2-1	ORPHA:209905
HP:0040202	Abnormal consumption behavior	1806	DPYD	ORPHA:293948
HP:0040202	Abnormal consumption behavior	8831	SYNGAP1	ORPHA:544254
HP:0040202	Abnormal consumption behavior	23590	PDSS1	OMIM:614651
HP:0040202	Abnormal consumption behavior	340533	NEXMIF	OMIM:300912
HP:0040203	Abnormal CSF neopterin concentration	87178	PNPT1	ORPHA:319514
HP:0040203	Abnormal CSF neopterin concentration	6773	STAT2	OMIM:616636
HP:0040204	Elevated CSF neopterin level	87178	PNPT1	ORPHA:319514
HP:0040204	Elevated CSF neopterin level	6773	STAT2	OMIM:616636
HP:0040206	Abnormal circulating neopterin concentration	5092	PCBD1	ORPHA:1578
HP:0040207	Abnormal CSF biopterin concentration	3735	KARS1	OMIM:619147
HP:0040207	Abnormal CSF biopterin concentration	55768	NGLY1	ORPHA:404454
HP:0040209	Decreased CSF biopterin level	3735	KARS1	OMIM:619147
HP:0040209	Decreased CSF biopterin level	55768	NGLY1	ORPHA:404454
HP:0040210	Abnormal circulating biopterin concentration	5092	PCBD1	ORPHA:1578
HP:0040211	Abnormal skin morphology of the palm	23394	ADNP	ORPHA:404448
HP:0040211	Abnormal skin morphology of the palm	324	APC	ORPHA:261584
HP:0040211	Abnormal skin morphology of the palm	340533	NEXMIF	OMIM:300912
HP:0040211	Abnormal skin morphology of the palm	8294	H4C9	OMIM:619951
HP:0040211	Abnormal skin morphology of the palm	83932	SPRTN	OMIM:616200
HP:0040211	Abnormal skin morphology of the palm	8425	LTBP4	OMIM:613177
HP:0040211	Abnormal skin morphology of the palm	51126	NAA20	OMIM:619717
HP:0040211	Abnormal skin morphology of the palm	2972	BRF1	OMIM:616202
HP:0040211	Abnormal skin morphology of the palm	2972	BRF1	ORPHA:444072
HP:0040211	Abnormal skin morphology of the palm	6228	RPS23	OMIM:617412
HP:0040211	Abnormal skin morphology of the palm	5885	RAD21	OMIM:614701
HP:0040211	Abnormal skin morphology of the palm	55627	SMPD4	OMIM:618622
HP:0040211	Abnormal skin morphology of the palm	81857	MED25	OMIM:616449
HP:0040211	Abnormal skin morphology of the palm	81857	MED25	ORPHA:464738
HP:0040211	Abnormal skin morphology of the palm	123263	MTFMT	OMIM:614947
HP:0040211	Abnormal skin morphology of the palm	10274	STAG1	ORPHA:502434
HP:0040211	Abnormal skin morphology of the palm	5830	PEX5	OMIM:214110
HP:0040211	Abnormal skin morphology of the palm	197131	UBR1	OMIM:243800
HP:0040211	Abnormal skin morphology of the palm	9578	CDC42BPB	OMIM:619841
HP:0040211	Abnormal skin morphology of the palm	3020	H3-3A	OMIM:619720
HP:0040211	Abnormal skin morphology of the palm	10300	KATNB1	OMIM:616212
HP:0040211	Abnormal skin morphology of the palm	89910	UBE3B	OMIM:244450
HP:0040211	Abnormal skin morphology of the palm	51506	UFC1	OMIM:618076
HP:0040211	Abnormal skin morphology of the palm	55790	CSGALNACT1	OMIM:618870
HP:0040211	Abnormal skin morphology of the palm	4010	LMX1B	ORPHA:495818
HP:0040211	Abnormal skin morphology of the palm	6812	STXBP1	ORPHA:495818
HP:0040211	Abnormal skin morphology of the palm	2137	EXTL3	OMIM:617425
HP:0040211	Abnormal skin morphology of the palm	22858	CILK1	OMIM:612651
HP:0040211	Abnormal skin morphology of the palm	9382	COG1	OMIM:611209
HP:0040211	Abnormal skin morphology of the palm	5189	PEX1	OMIM:214100
HP:0040211	Abnormal skin morphology of the palm	6197	RPS6KA3	OMIM:303600
HP:0040211	Abnormal skin morphology of the palm	84987	COX14	OMIM:619053
HP:0040211	Abnormal skin morphology of the palm	57492	ARID1B	OMIM:135900
HP:0040211	Abnormal skin morphology of the palm	54453	RIN2	OMIM:613075
HP:0040211	Abnormal skin morphology of the palm	3899	AFF3	OMIM:619297
HP:0040211	Abnormal skin morphology of the palm	50814	NSDHL	OMIM:308050
HP:0040211	Abnormal skin morphology of the palm	9968	MED12	ORPHA:93932
HP:0040211	Abnormal skin morphology of the palm	9968	MED12	OMIM:305450
HP:0040211	Abnormal skin morphology of the palm	92579	G6PC3	OMIM:612541
HP:0040211	Abnormal skin morphology of the palm	114034	TOE1	OMIM:614969
HP:0040211	Abnormal skin morphology of the palm	157680	VPS13B	OMIM:216550
HP:0040211	Abnormal skin morphology of the palm	7020	TFAP2A	OMIM:113620
HP:0040211	Abnormal skin morphology of the palm	9896	FIG4	ORPHA:3472
HP:0040211	Abnormal skin morphology of the palm	9896	FIG4	OMIM:216340
HP:0040211	Abnormal skin morphology of the palm	55697	VAC14	ORPHA:3472
HP:0040211	Abnormal skin morphology of the palm	652	BMP4	OMIM:607932
HP:0040211	Abnormal skin morphology of the palm	5442	POLRMT	OMIM:619743
HP:0040211	Abnormal skin morphology of the palm	132158	GLYCTK	OMIM:220120
HP:0040211	Abnormal skin morphology of the palm	23036	ZNF292	OMIM:619188
HP:0040211	Abnormal skin morphology of the palm	55148	UBR7	OMIM:619189
HP:0040211	Abnormal skin morphology of the palm	4591	TRIM37	OMIM:253250
HP:0040211	Abnormal skin morphology of the palm	79813	EHMT1	OMIM:610253
HP:0040211	Abnormal skin morphology of the palm	55012	PPP2R3C	OMIM:618419
HP:0040211	Abnormal skin morphology of the palm	1954	MEGF8	OMIM:614976
HP:0040211	Abnormal skin morphology of the palm	2783	GNB2	OMIM:619503
HP:0040211	Abnormal skin morphology of the palm	53834	FGFRL1	OMIM:194190
HP:0040211	Abnormal skin morphology of the palm	1487	CTBP1	OMIM:194190
HP:0040211	Abnormal skin morphology of the palm	3954	LETM1	OMIM:194190
HP:0040211	Abnormal skin morphology of the palm	7468	NSD2	OMIM:194190
HP:0040211	Abnormal skin morphology of the palm	10815	CPLX1	OMIM:194190
HP:0040211	Abnormal skin morphology of the palm	26040	SETBP1	OMIM:269150
HP:0040211	Abnormal skin morphology of the palm	727857	BHLHA9	OMIM:609432
HP:0040211	Abnormal skin morphology of the palm	1802	DPH2	OMIM:620062
HP:0040211	Abnormal skin morphology of the palm	11285	B4GALT7	OMIM:130070
HP:0040211	Abnormal skin morphology of the palm	1186	CLCN7	OMIM:618541
HP:0040211	Abnormal skin morphology of the palm	55768	NGLY1	OMIM:615273
HP:0040211	Abnormal skin morphology of the palm	1349	COX7B	OMIM:309801
HP:0040211	Abnormal skin morphology of the palm	3052	HCCS	OMIM:309801
HP:0040211	Abnormal skin morphology of the palm	54539	NDUFB11	OMIM:309801
HP:0040211	Abnormal skin morphology of the palm	5190	PEX6	OMIM:614863
HP:0040211	Abnormal skin morphology of the palm	5828	PEX2	OMIM:614866
HP:0040211	Abnormal skin morphology of the palm	150468	CKAP2L	OMIM:272440
HP:0040211	Abnormal skin morphology of the palm	6134	RPL10	ORPHA:459070
HP:0040211	Abnormal skin morphology of the palm	6134	RPL10	OMIM:300998
HP:0040211	Abnormal skin morphology of the palm	6134	RPL10	ORPHA:435938
HP:0040211	Abnormal skin morphology of the palm	55165	CEP55	OMIM:236500
HP:0040211	Abnormal skin morphology of the palm	8085	KMT2D	OMIM:620186
HP:0040211	Abnormal skin morphology of the palm	23137	SMC5	OMIM:620185
HP:0040211	Abnormal skin morphology of the palm	27086	FOXP1	ORPHA:391372
HP:0040211	Abnormal skin morphology of the palm	388015	RTL1	ORPHA:96334
HP:0040211	Abnormal skin morphology of the palm	388015	RTL1	ORPHA:254528
HP:0040211	Abnormal skin morphology of the palm	8788	DLK1	ORPHA:96334
HP:0040211	Abnormal skin morphology of the palm	8788	DLK1	ORPHA:254528
HP:0040211	Abnormal skin morphology of the palm	55384	MEG3	ORPHA:96334
HP:0040211	Abnormal skin morphology of the palm	55384	MEG3	ORPHA:254528
HP:0040211	Abnormal skin morphology of the palm	10430	TMEM147	OMIM:620075
HP:0040211	Abnormal skin morphology of the palm	23483	TGDS	OMIM:616145
HP:0040211	Abnormal skin morphology of the palm	6611	SMS	OMIM:309583
HP:0040211	Abnormal skin morphology of the palm	25836	NIPBL	OMIM:122470
HP:0040211	Abnormal skin morphology of the palm	23219	FBXO28	OMIM:619777
HP:0040211	Abnormal skin morphology of the palm	2146	EZH2	OMIM:277590
HP:0040211	Abnormal skin morphology of the palm	2316	FLNA	ORPHA:1826
HP:0040211	Abnormal skin morphology of the palm	6885	MAP3K7	ORPHA:1826
HP:0040211	Abnormal skin morphology of the palm	51322	WAC	ORPHA:466950
HP:0040211	Abnormal skin morphology of the palm	6595	SMARCA2	OMIM:601358
HP:0040211	Abnormal skin morphology of the palm	29123	ANKRD11	OMIM:148050
HP:0040211	Abnormal skin morphology of the palm	29123	ANKRD11	ORPHA:2332
HP:0040211	Abnormal skin morphology of the palm	2702	GJA5	OMIM:612474
HP:0040211	Abnormal skin morphology of the palm	2703	GJA8	OMIM:612474
HP:0040211	Abnormal skin morphology of the palm	4208	MEF2C	OMIM:613443
HP:0040211	Abnormal skin morphology of the palm	55690	PACS1	ORPHA:329224
HP:0040211	Abnormal skin morphology of the palm	6878	TAF6	OMIM:617126
HP:0040211	Abnormal skin morphology of the palm	22907	DHX30	OMIM:617804
HP:0040211	Abnormal skin morphology of the palm	2245	FGD1	ORPHA:915
HP:0040211	Abnormal skin morphology of the palm	2245	FGD1	OMIM:305400
HP:0040211	Abnormal skin morphology of the palm	10664	CTCF	OMIM:615502
HP:0040211	Abnormal skin morphology of the palm	10664	CTCF	ORPHA:363611
HP:0040211	Abnormal skin morphology of the palm	81603	TRIM8	OMIM:619428
HP:0040211	Abnormal skin morphology of the palm	9230	RAB11B	OMIM:617807
HP:0040211	Abnormal skin morphology of the palm	55081	IFT57	OMIM:617927
HP:0040211	Abnormal skin morphology of the palm	3720	JARID2	OMIM:620098
HP:0040211	Abnormal skin morphology of the palm	3479	IGF1	ORPHA:73272
HP:0040211	Abnormal skin morphology of the palm	5193	PEX12	OMIM:266510
HP:0040211	Abnormal skin morphology of the palm	100151683	RNU4ATAC	OMIM:210710
HP:0040211	Abnormal skin morphology of the palm	100151683	RNU4ATAC	OMIM:616651
HP:0040211	Abnormal skin morphology of the palm	1798	DPAGT1	OMIM:608093
HP:0040211	Abnormal skin morphology of the palm	57122	NUP107	OMIM:618348
HP:0040211	Abnormal skin morphology of the palm	6418	SET	OMIM:618106
HP:0040211	Abnormal skin morphology of the palm	5515	PPP2CA	OMIM:618354
HP:0040211	Abnormal skin morphology of the palm	2623	GATA1	OMIM:190685
HP:0040211	Abnormal skin morphology of the palm	23030	KDM4B	OMIM:619320
HP:0040211	Abnormal skin morphology of the palm	2902	GRIN1	OMIM:617820
HP:0040211	Abnormal skin morphology of the palm	55784	MCTP2	ORPHA:1596
HP:0040211	Abnormal skin morphology of the palm	23097	CDK19	OMIM:618916
HP:0040211	Abnormal skin morphology of the palm	9126	SMC3	OMIM:610759
HP:0040211	Abnormal skin morphology of the palm	4131	MAP1B	OMIM:618918
HP:0040211	Abnormal skin morphology of the palm	5530	PPP3CA	OMIM:617711
HP:0040211	Abnormal skin morphology of the palm	80746	TSEN2	OMIM:612389
HP:0040211	Abnormal skin morphology of the palm	64131	XYLT1	OMIM:615777
HP:0040211	Abnormal skin morphology of the palm	9361	LONP1	ORPHA:79243
HP:0040211	Abnormal skin morphology of the palm	5160	PDHA1	ORPHA:79243
HP:0040211	Abnormal skin morphology of the palm	55764	IFT122	OMIM:218330
HP:0040211	Abnormal skin morphology of the palm	8604	SLC25A12	OMIM:612949
HP:0040211	Abnormal skin morphology of the palm	9241	NOG	OMIM:186500
HP:0040211	Abnormal skin morphology of the palm	22827	PUF60	ORPHA:508488
HP:0040211	Abnormal skin morphology of the palm	10943	MSL3	OMIM:301032
HP:0040211	Abnormal skin morphology of the palm	3977	LIFR	OMIM:601559
HP:0040211	Abnormal skin morphology of the palm	545	ATR	OMIM:210600
HP:0040211	Abnormal skin morphology of the palm	57187	THOC2	ORPHA:457240
HP:0040211	Abnormal skin morphology of the palm	57572	DOCK6	OMIM:614219
HP:0040211	Abnormal skin morphology of the palm	94005	PIGS	OMIM:618143
HP:0040211	Abnormal skin morphology of the palm	145173	B3GLCT	OMIM:261540
HP:0040211	Abnormal skin morphology of the palm	6711	SPTBN1	OMIM:619475
HP:0040211	Abnormal skin morphology of the palm	1387	CREBBP	OMIM:180849
HP:0040211	Abnormal skin morphology of the palm	2033	EP300	OMIM:180849
HP:0040211	Abnormal skin morphology of the palm	6938	TCF12	OMIM:615314
HP:0040211	Abnormal skin morphology of the palm	92002	CCNQ	OMIM:300707
HP:0040211	Abnormal skin morphology of the palm	91461	PKDCC	OMIM:618821
HP:0040211	Abnormal skin morphology of the palm	4329	ALDH6A1	OMIM:614105
HP:0040211	Abnormal skin morphology of the palm	1457	CSNK2A1	OMIM:617062
HP:0040211	Abnormal skin morphology of the palm	7204	TRIO	OMIM:617061
HP:0040211	Abnormal skin morphology of the palm	55617	TASP1	OMIM:618950
HP:0040211	Abnormal skin morphology of the palm	51305	KCNK9	OMIM:612292
HP:0040211	Abnormal skin morphology of the palm	83737	ITCH	OMIM:613385
HP:0040211	Abnormal skin morphology of the palm	112752	IFT43	OMIM:617866
HP:0040211	Abnormal skin morphology of the palm	9702	CEP57	OMIM:614114
HP:0040211	Abnormal skin morphology of the palm	9373	PLAA	ORPHA:521426
HP:0040211	Abnormal skin morphology of the palm	9373	PLAA	OMIM:617527
HP:0040211	Abnormal skin morphology of the palm	64093	SMOC1	OMIM:206920
HP:0040211	Abnormal skin morphology of the palm	7169	TPM2	OMIM:108120
HP:0040211	Abnormal skin morphology of the palm	403	ARL3	OMIM:618161
HP:0040211	Abnormal skin morphology of the palm	8200	GDF5	OMIM:201250
HP:0040211	Abnormal skin morphology of the palm	1748	DLX4	OMIM:616788
HP:0040211	Abnormal skin morphology of the palm	1663	DDX11	OMIM:613398
HP:0040211	Abnormal skin morphology of the palm	2733	GLE1	OMIM:611890
HP:0040211	Abnormal skin morphology of the palm	738	VPS51	OMIM:618606
HP:0040211	Abnormal skin morphology of the palm	51594	NBAS	OMIM:614800
HP:0040211	Abnormal skin morphology of the palm	23299	BICD2	OMIM:618291
HP:0040211	Abnormal skin morphology of the palm	58499	ZNF462	OMIM:618619
HP:0040211	Abnormal skin morphology of the palm	7051	TGM1	OMIM:242300
HP:0040211	Abnormal skin morphology of the palm	7051	TGM1	ORPHA:100976
HP:0040211	Abnormal skin morphology of the palm	3858	KRT10	OMIM:607602
HP:0040211	Abnormal skin morphology of the palm	3858	KRT10	OMIM:609165
HP:0040211	Abnormal skin morphology of the palm	121214	SDR9C7	OMIM:617574
HP:0040211	Abnormal skin morphology of the palm	55651	NHP2	OMIM:224230
HP:0040211	Abnormal skin morphology of the palm	55505	NOP10	OMIM:224230
HP:0040211	Abnormal skin morphology of the palm	1075	CTSC	OMIM:170650
HP:0040211	Abnormal skin morphology of the palm	1075	CTSC	OMIM:245000
HP:0040211	Abnormal skin morphology of the palm	1075	CTSC	ORPHA:678
HP:0040211	Abnormal skin morphology of the palm	8710	SERPINB7	OMIM:615598
HP:0040211	Abnormal skin morphology of the palm	121391	KRT74	OMIM:194300
HP:0040211	Abnormal skin morphology of the palm	3248	HPGD	OMIM:259100
HP:0040211	Abnormal skin morphology of the palm	7373	COL14A1	ORPHA:79501
HP:0040211	Abnormal skin morphology of the palm	79719	AAGAB	ORPHA:79501
HP:0040211	Abnormal skin morphology of the palm	10804	GJB6	ORPHA:189
HP:0040211	Abnormal skin morphology of the palm	10804	GJB6	OMIM:129500
HP:0040211	Abnormal skin morphology of the palm	5728	PTEN	OMIM:158350
HP:0040211	Abnormal skin morphology of the palm	57511	COG6	ORPHA:363523
HP:0040211	Abnormal skin morphology of the palm	57511	COG6	OMIM:615328
HP:0040211	Abnormal skin morphology of the palm	5159	PDGFRB	OMIM:601812
HP:0040211	Abnormal skin morphology of the palm	22861	NLRP1	OMIM:617388
HP:0040211	Abnormal skin morphology of the palm	51360	MBTPS2	OMIM:300918
HP:0040211	Abnormal skin morphology of the palm	64065	PERP	OMIM:619209
HP:0040211	Abnormal skin morphology of the palm	64065	PERP	OMIM:619208
HP:0040211	Abnormal skin morphology of the palm	55612	FERMT1	OMIM:173650
HP:0040211	Abnormal skin morphology of the palm	5818	NECTIN1	ORPHA:3253
HP:0040211	Abnormal skin morphology of the palm	5818	NECTIN1	OMIM:225060
HP:0040211	Abnormal skin morphology of the palm	7015	TERT	OMIM:613989
HP:0040211	Abnormal skin morphology of the palm	3889	KRT83	OMIM:617756
HP:0040211	Abnormal skin morphology of the palm	9487	PIGL	OMIM:280000
HP:0040211	Abnormal skin morphology of the palm	8086	AAAS	OMIM:231550
HP:0040211	Abnormal skin morphology of the palm	7286	TUFT1	OMIM:607655
HP:0040211	Abnormal skin morphology of the palm	5290	PIK3CA	OMIM:615108
HP:0040211	Abnormal skin morphology of the palm	207	AKT1	OMIM:615109
HP:0040211	Abnormal skin morphology of the palm	667	DST	OMIM:615425
HP:0040211	Abnormal skin morphology of the palm	2531	KDSR	OMIM:617526
HP:0040211	Abnormal skin morphology of the palm	9015	TAF1A	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	5663	PSEN1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	6389	SDHA	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7112	TMPO	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	9464	HAND2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	4625	MYH7	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	88	ACTN2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	10486	CAP2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	10060	ABCC9	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7168	TPM1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7414	VCL	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	70	ACTC1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	27063	ANKRD1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	8048	CSRP3	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	1410	CRYAB	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	4000	LMNA	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7139	TNNT2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	1829	DSG2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	3910	LAMA4	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	63976	PRDM16	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7273	TTN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	10587	TXNRD2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	9531	BAG3	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	5350	PLN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	91624	NEXN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	79717	PPCS	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	5664	PSEN2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	4624	MYH6	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	9529	BAG5	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	4607	MYBPC3	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	282996	RBM20	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7137	TNNI3	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	11155	LDB3	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	2274	FHL2	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	6901	TAFAZZIN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	22845	DOLK	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	5894	RAF1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	1756	DMD	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	57798	GATAD1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	7134	TNNC1	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	84665	MYPN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	1674	DES	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	6444	SGCD	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	6331	SCN5A	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	2218	FKTN	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	8557	TCAP	ORPHA:154
HP:0040211	Abnormal skin morphology of the palm	79092	CARD14	OMIM:173200
HP:0040211	Abnormal skin morphology of the palm	79092	CARD14	ORPHA:2897
HP:0040211	Abnormal skin morphology of the palm	79650	USB1	OMIM:604173
HP:0040211	Abnormal skin morphology of the palm	79650	USB1	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	1308	COL17A1	ORPHA:79406
HP:0040211	Abnormal skin morphology of the palm	1308	COL17A1	ORPHA:79402
HP:0040211	Abnormal skin morphology of the palm	4312	MMP1	ORPHA:79408
HP:0040211	Abnormal skin morphology of the palm	162	AP1B1	OMIM:242150
HP:0040211	Abnormal skin morphology of the palm	4574	MT-TS1	ORPHA:2202
HP:0040211	Abnormal skin morphology of the palm	1824	DSC2	OMIM:610476
HP:0040211	Abnormal skin morphology of the palm	8626	TP63	OMIM:106260
HP:0040211	Abnormal skin morphology of the palm	8626	TP63	OMIM:129400
HP:0040211	Abnormal skin morphology of the palm	3849	KRT2	ORPHA:455
HP:0040211	Abnormal skin morphology of the palm	6578	SLCO2A1	ORPHA:2796
HP:0040211	Abnormal skin morphology of the palm	3909	LAMA3	ORPHA:79402
HP:0040211	Abnormal skin morphology of the palm	3918	LAMC2	ORPHA:79402
HP:0040211	Abnormal skin morphology of the palm	3691	ITGB4	ORPHA:79402
HP:0040211	Abnormal skin morphology of the palm	26154	ABCA12	OMIM:601277
HP:0040211	Abnormal skin morphology of the palm	26154	ABCA12	ORPHA:79394
HP:0040211	Abnormal skin morphology of the palm	6898	TAT	ORPHA:28378
HP:0040211	Abnormal skin morphology of the palm	10483	SEC23B	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	6390	SDHB	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	6392	SDHD	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	6391	SDHC	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	205717	USF3	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	100144748	KLLN	ORPHA:201
HP:0040211	Abnormal skin morphology of the palm	285848	PNPLA1	OMIM:615024
HP:0040211	Abnormal skin morphology of the palm	285848	PNPLA1	ORPHA:79394
HP:0040211	Abnormal skin morphology of the palm	23328	SASH1	OMIM:618373
HP:0040211	Abnormal skin morphology of the palm	1474	CST6	OMIM:618535
HP:0040211	Abnormal skin morphology of the palm	54795	TRPM4	ORPHA:316
HP:0040211	Abnormal skin morphology of the palm	348938	NIPAL4	OMIM:612281
HP:0040211	Abnormal skin morphology of the palm	348938	NIPAL4	ORPHA:79394
HP:0040211	Abnormal skin morphology of the palm	29926	GMPPA	ORPHA:869
HP:0040211	Abnormal skin morphology of the palm	60684	TRAPPC11	ORPHA:869
HP:0040211	Abnormal skin morphology of the palm	25959	KANK2	OMIM:616099
HP:0040211	Abnormal skin morphology of the palm	57192	MCOLN1	ORPHA:578
HP:0040211	Abnormal skin morphology of the palm	1493	CTLA4	ORPHA:3162
HP:0040211	Abnormal skin morphology of the palm	940	CD28	ORPHA:3162
HP:0040211	Abnormal skin morphology of the palm	7133	TNFRSF1B	ORPHA:3162
HP:0040211	Abnormal skin morphology of the palm	79977	GRHL2	OMIM:616029
HP:0040211	Abnormal skin morphology of the palm	286887	KRT6C	OMIM:615735
HP:0040211	Abnormal skin morphology of the palm	23592	LEMD3	ORPHA:1306
HP:0040211	Abnormal skin morphology of the palm	79644	SRD5A3	ORPHA:324737
HP:0040211	Abnormal skin morphology of the palm	80169	CTC1	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	26277	TINF2	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	55135	WRAP53	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	51750	RTEL1	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	4869	NPM1	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	7012	TERC	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	5073	PARN	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	1736	DKC1	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	7298	TYMS	ORPHA:1775
HP:0040211	Abnormal skin morphology of the palm	55636	CHD7	OMIM:214800
HP:0040211	Abnormal skin morphology of the palm	8260	NAA10	OMIM:309800
HP:0040211	Abnormal skin morphology of the palm	54880	BCOR	OMIM:309800
HP:0040211	Abnormal skin morphology of the palm	64840	PORCN	ORPHA:2092
HP:0040211	Abnormal skin morphology of the palm	162514	TRPV3	OMIM:616400
HP:0040211	Abnormal skin morphology of the palm	1832	DSP	ORPHA:65282
HP:0040211	Abnormal skin morphology of the palm	2697	GJA1	ORPHA:317
HP:0040211	Abnormal skin morphology of the palm	2707	GJB3	ORPHA:317
HP:0040211	Abnormal skin morphology of the palm	2707	GJB3	OMIM:133200
HP:0040211	Abnormal skin morphology of the palm	127534	GJB4	ORPHA:317
HP:0040211	Abnormal skin morphology of the palm	3914	LAMB3	OMIM:226650
HP:0040211	Abnormal skin morphology of the palm	113189	CHST14	ORPHA:2953
HP:0040211	Abnormal skin morphology of the palm	29940	DSE	ORPHA:2953
HP:0040211	Abnormal skin morphology of the palm	26053	AUTS2	OMIM:615834
HP:0040211	Abnormal skin morphology of the palm	26053	AUTS2	ORPHA:352490
HP:0040211	Abnormal skin morphology of the palm	8985	PLOD3	OMIM:612394
HP:0040211	Abnormal skin morphology of the palm	55252	ASXL2	OMIM:617190
HP:0040211	Abnormal skin morphology of the palm	8036	SHOC2	OMIM:607721
HP:0040211	Abnormal skin morphology of the palm	65082	VPS33A	ORPHA:505248
HP:0040211	Abnormal skin morphology of the palm	3190	HNRNPK	OMIM:616580
HP:0040211	Abnormal skin morphology of the palm	4052	LTBP1	OMIM:619451
HP:0040211	Abnormal skin morphology of the palm	8558	CDK10	OMIM:617694
HP:0040211	Abnormal skin morphology of the palm	57479	PRR12	OMIM:619539
HP:0040211	Abnormal skin morphology of the palm	29957	SLC25A24	OMIM:612289
HP:0040211	Abnormal skin morphology of the palm	673	BRAF	OMIM:115150
HP:0040211	Abnormal skin morphology of the palm	673	BRAF	ORPHA:1340
HP:0040211	Abnormal skin morphology of the palm	673	BRAF	OMIM:613706
HP:0040211	Abnormal skin morphology of the palm	5604	MAP2K1	ORPHA:1340
HP:0040211	Abnormal skin morphology of the palm	5605	MAP2K2	ORPHA:1340
HP:0040211	Abnormal skin morphology of the palm	3845	KRAS	ORPHA:1340
HP:0040211	Abnormal skin morphology of the palm	83550	GPR101	ORPHA:963
HP:0040211	Abnormal skin morphology of the palm	9049	AIP	ORPHA:963
HP:0040211	Abnormal skin morphology of the palm	23384	SPECC1L	OMIM:600251
HP:0040211	Abnormal skin morphology of the palm	55593	OTUD5	OMIM:301056
HP:0040211	Abnormal skin morphology of the palm	283209	PGM2L1	OMIM:620191
HP:0040211	Abnormal skin morphology of the palm	79718	TBL1XR1	OMIM:602342
HP:0040211	Abnormal skin morphology of the palm	79718	TBL1XR1	ORPHA:487825
HP:0040211	Abnormal skin morphology of the palm	171023	ASXL1	OMIM:605039
HP:0040211	Abnormal skin morphology of the palm	10651	MTX2	OMIM:619127
HP:0040211	Abnormal skin morphology of the palm	80816	ASXL3	OMIM:615485
HP:0040211	Abnormal skin morphology of the palm	1806	DPYD	ORPHA:1675
HP:0040211	Abnormal skin morphology of the palm	2475	MTOR	OMIM:616638
HP:0040211	Abnormal skin morphology of the palm	200734	SPRED2	OMIM:619745
HP:0040211	Abnormal skin morphology of the palm	526	ATP6V1B2	ORPHA:3473
HP:0040211	Abnormal skin morphology of the palm	3756	KCNH1	ORPHA:3473
HP:0040211	Abnormal skin morphology of the palm	3782	KCNN3	ORPHA:3473
HP:0040211	Abnormal skin morphology of the palm	3265	HRAS	OMIM:218040
HP:0040211	Abnormal skin morphology of the palm	8241	RBM10	OMIM:311900
HP:0040211	Abnormal skin morphology of the palm	1080	CFTR	ORPHA:498359
HP:0040211	Abnormal skin morphology of the palm	1508	CTSB	OMIM:148370
HP:0040211	Abnormal skin morphology of the palm	284654	RSPO1	OMIM:610644
HP:0040211	Abnormal skin morphology of the palm	1041	CDSN	OMIM:270300
HP:0040211	Abnormal skin morphology of the palm	5317	PKP1	OMIM:604536
HP:0040211	Abnormal skin morphology of the palm	1294	COL7A1	ORPHA:79409
HP:0040211	Abnormal skin morphology of the palm	1294	COL7A1	ORPHA:79410
HP:0040211	Abnormal skin morphology of the palm	5339	PLEC	ORPHA:79401
HP:0040211	Abnormal skin morphology of the palm	1828	DSG1	OMIM:148700
HP:0040211	Abnormal skin morphology of the palm	362	AQP5	OMIM:600231
HP:0040211	Abnormal skin morphology of the palm	362	AQP5	ORPHA:2337
HP:0040211	Abnormal skin morphology of the palm	3728	JUP	OMIM:601214
HP:0040211	Abnormal skin morphology of the palm	57152	SLURP1	ORPHA:86923
HP:0040211	Abnormal skin morphology of the palm	145264	SERPINA12	ORPHA:86923
HP:0040211	Abnormal skin morphology of the palm	54800	KLHL24	OMIM:617294
HP:0040211	Abnormal skin morphology of the palm	9342	SNAP29	ORPHA:66631
HP:0040211	Abnormal skin morphology of the palm	79651	RHBDF2	OMIM:148500
HP:0040211	Abnormal skin morphology of the palm	4014	LORICRIN	OMIM:604117
HP:0040211	Abnormal skin morphology of the palm	4014	LORICRIN	ORPHA:79395
HP:0040211	Abnormal skin morphology of the palm	2706	GJB2	OMIM:124500
HP:0040211	Abnormal skin morphology of the palm	2706	GJB2	ORPHA:494
HP:0040211	Abnormal skin morphology of the palm	51371	POMP	OMIM:601952
HP:0040211	Abnormal skin morphology of the palm	715	C1R	OMIM:130080
HP:0040211	Abnormal skin morphology of the palm	2261	FGFR3	OMIM:616482
HP:0040211	Abnormal skin morphology of the palm	22808	MRAS	OMIM:618499
HP:0040211	Abnormal skin morphology of the palm	5351	PLOD1	OMIM:225400
HP:0040211	Abnormal skin morphology of the palm	8216	LZTR1	OMIM:616564
HP:0040211	Abnormal skin morphology of the palm	8216	LZTR1	OMIM:605275
HP:0040211	Abnormal skin morphology of the palm	84627	ZNF469	OMIM:229200
HP:0040211	Abnormal skin morphology of the palm	6016	RIT1	OMIM:615355
HP:0040211	Abnormal skin morphology of the palm	2263	FGFR2	OMIM:123790
HP:0040211	Abnormal skin morphology of the palm	23545	ATP6V0A2	OMIM:278250
HP:0040211	Abnormal skin morphology of the palm	5167	ENPP1	OMIM:615522
HP:0040211	Abnormal skin morphology of the palm	831	CAST	OMIM:616295
HP:0040211	Abnormal skin morphology of the palm	26276	VPS33B	OMIM:620009
HP:0040211	Abnormal skin morphology of the palm	7291	TWIST1	ORPHA:794
HP:0040211	Abnormal skin morphology of the palm	23476	BRD4	ORPHA:199
HP:0040211	Abnormal skin morphology of the palm	8243	SMC1A	ORPHA:199
HP:0040211	Abnormal skin morphology of the palm	55869	HDAC8	ORPHA:199
HP:0040211	Abnormal skin morphology of the palm	5792	PTPRF	OMIM:616001
HP:0040211	Abnormal skin morphology of the palm	10908	PNPLA6	ORPHA:2377
HP:0040211	Abnormal skin morphology of the palm	9894	TELO2	ORPHA:488642
HP:0040211	Abnormal skin morphology of the palm	9759	HDAC4	ORPHA:1001
HP:0040211	Abnormal skin morphology of the palm	157570	ESCO2	ORPHA:3103
HP:0040211	Abnormal skin morphology of the palm	5184	PEPD	ORPHA:742
HP:0040211	Abnormal skin morphology of the palm	2131	EXT1	ORPHA:502
HP:0040211	Abnormal skin morphology of the palm	7227	TRPS1	ORPHA:502
HP:0040211	Abnormal skin morphology of the palm	283989	TSEN54	ORPHA:2524
HP:0040211	Abnormal skin morphology of the palm	116461	TSEN15	ORPHA:2524
HP:0040211	Abnormal skin morphology of the palm	79042	TSEN34	ORPHA:2524
HP:0040211	Abnormal skin morphology of the palm	51091	SEPSECS	ORPHA:2524
HP:0040211	Abnormal skin morphology of the palm	129563	DIS3L2	ORPHA:2849
HP:0040211	Abnormal skin morphology of the palm	55670	PEX26	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	5824	PEX19	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	8504	PEX3	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	9409	PEX16	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	8799	PEX11B	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	5194	PEX13	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	5195	PEX14	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	5192	PEX10	ORPHA:44
HP:0040211	Abnormal skin morphology of the palm	9469	CHST3	OMIM:143095
HP:0040211	Abnormal skin morphology of the palm	7140	TNNT3	ORPHA:1147
HP:0040211	Abnormal skin morphology of the palm	7136	TNNI2	ORPHA:1147
HP:0040211	Abnormal skin morphology of the palm	23511	NUP188	OMIM:618804
HP:0040211	Abnormal skin morphology of the palm	658	BMPR1B	ORPHA:2639
HP:0040211	Abnormal skin morphology of the palm	4087	SMAD2	OMIM:619657
HP:0040211	Abnormal skin morphology of the palm	64359	NXN	ORPHA:1507
HP:0040211	Abnormal skin morphology of the palm	4920	ROR2	ORPHA:1507
HP:0040211	Abnormal skin morphology of the palm	10225	CD96	ORPHA:1308
HP:0040211	Abnormal skin morphology of the palm	23522	KAT6B	ORPHA:3047
HP:0040211	Abnormal skin morphology of the palm	147372	CCBE1	OMIM:235510
HP:0040211	Abnormal skin morphology of the palm	9496	TBX4	ORPHA:261279
HP:0040211	Abnormal skin morphology of the palm	1801	DPH1	ORPHA:459061
HP:0040211	Abnormal skin morphology of the palm	2254	FGF9	ORPHA:3237
HP:0040211	Abnormal skin morphology of the palm	9333	TGM5	ORPHA:263534
HP:0040211	Abnormal skin morphology of the palm	1475	CSTA	ORPHA:263534
HP:0040211	Abnormal skin morphology of the palm	4927	NUP88	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	7846	TUBA1A	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	4654	MYOD1	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	4593	MUSK	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	5913	RAPSN	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	6572	SLC18A3	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	285489	DOK7	ORPHA:994
HP:0040211	Abnormal skin morphology of the palm	91252	SLC39A13	ORPHA:157965
HP:0040211	Abnormal skin morphology of the palm	63895	PIEZO2	ORPHA:1154
HP:0040211	Abnormal skin morphology of the palm	4621	MYH3	ORPHA:2053
HP:0040211	Abnormal skin morphology of the palm	259232	NALCN	ORPHA:2053
HP:0040211	Abnormal skin morphology of the palm	54101	RIPK4	OMIM:263650
HP:0040211	Abnormal skin morphology of the palm	92949	ADAMTSL1	ORPHA:521445
HP:0040211	Abnormal skin morphology of the palm	22884	WDR37	OMIM:618652
HP:0040211	Abnormal skin morphology of the palm	7750	ZMYM2	OMIM:619522
HP:0040211	Abnormal skin morphology of the palm	5727	PTCH1	ORPHA:77301
HP:0040211	Abnormal skin morphology of the palm	5727	PTCH1	ORPHA:377
HP:0040211	Abnormal skin morphology of the palm	5727	PTCH1	OMIM:109400
HP:0040211	Abnormal skin morphology of the palm	8643	PTCH2	ORPHA:377
HP:0040211	Abnormal skin morphology of the palm	51684	SUFU	ORPHA:377
HP:0040211	Abnormal skin morphology of the palm	10519	CIB1	OMIM:618267
HP:0040211	Abnormal skin morphology of the palm	56983	POGLUT1	ORPHA:79145
HP:0040211	Abnormal skin morphology of the palm	23509	POFUT1	ORPHA:79145
HP:0040211	Abnormal skin morphology of the palm	55851	PSENEN	ORPHA:79145
HP:0040211	Abnormal skin morphology of the palm	488	ATP2A2	OMIM:124200
HP:0040211	Abnormal skin morphology of the palm	56916	SMARCAD1	OMIM:136000
HP:0040211	Abnormal skin morphology of the palm	55906	ZC4H2	OMIM:314580
HP:0040211	Abnormal skin morphology of the palm	80326	WNT10A	OMIM:150400
HP:0040211	Abnormal skin morphology of the palm	81607	NECTIN4	OMIM:613573
HP:0040211	Abnormal skin morphology of the palm	3868	KRT16	ORPHA:2199
HP:0040211	Abnormal skin morphology of the palm	3868	KRT16	ORPHA:2309
HP:0040211	Abnormal skin morphology of the palm	3857	KRT9	ORPHA:2199
HP:0040211	Abnormal skin morphology of the palm	3857	KRT9	OMIM:144200
HP:0040211	Abnormal skin morphology of the palm	3848	KRT1	ORPHA:2199
HP:0040211	Abnormal skin morphology of the palm	3852	KRT5	ORPHA:79397
HP:0040211	Abnormal skin morphology of the palm	3852	KRT5	ORPHA:79399
HP:0040211	Abnormal skin morphology of the palm	3852	KRT5	ORPHA:79400
HP:0040211	Abnormal skin morphology of the palm	3861	KRT14	ORPHA:79397
HP:0040211	Abnormal skin morphology of the palm	3861	KRT14	ORPHA:79399
HP:0040211	Abnormal skin morphology of the palm	3861	KRT14	ORPHA:79400
HP:0040211	Abnormal skin morphology of the palm	3853	KRT6A	OMIM:615726
HP:0040211	Abnormal skin morphology of the palm	3853	KRT6A	ORPHA:2309
HP:0040211	Abnormal skin morphology of the palm	3872	KRT17	ORPHA:2309
HP:0040211	Abnormal skin morphology of the palm	3854	KRT6B	ORPHA:2309
HP:0040211	Abnormal skin morphology of the palm	7528	YY1	ORPHA:506358
HP:0040211	Abnormal skin morphology of the palm	10625	IVNS1ABP	OMIM:618969
HP:0040211	Abnormal skin morphology of the palm	920	CD4	OMIM:619238
HP:0040211	Abnormal skin morphology of the palm	242	ALOX12B	OMIM:242100
HP:0040211	Abnormal skin morphology of the palm	59344	ALOXE3	OMIM:242100
HP:0040211	Abnormal skin morphology of the palm	59344	ALOXE3	OMIM:606545
HP:0040211	Abnormal skin morphology of the palm	126410	CYP4F22	OMIM:604777
HP:0040211	Abnormal skin morphology of the palm	126695	KDF1	OMIM:617337
HP:0040211	Abnormal skin morphology of the palm	412	STS	OMIM:308100
HP:0040211	Abnormal skin morphology of the palm	204219	CERS3	OMIM:615023
HP:0040211	Abnormal skin morphology of the palm	2312	FLG	OMIM:146700
HP:0040211	Abnormal skin morphology of the palm	94	ACVRL1	OMIM:600376
HP:0040211	Abnormal skin morphology of the palm	54345	SOX18	ORPHA:69735
HP:0040211	Abnormal skin morphology of the palm	54345	SOX18	OMIM:607823
HP:0040211	Abnormal skin morphology of the palm	2859	GPR35	ORPHA:171
HP:0040211	Abnormal skin morphology of the palm	10507	SEMA4D	ORPHA:171
HP:0040211	Abnormal skin morphology of the palm	4485	MST1	ORPHA:171
HP:0040211	Abnormal skin morphology of the palm	6925	TCF4	ORPHA:171
HP:0040211	Abnormal skin morphology of the palm	3930	LBR	OMIM:613471
HP:0040213	Hypopnea	27429	HTRA2	OMIM:617248
HP:0040213	Hypopnea	283446	MYO1H	OMIM:619482
HP:0040213	Hypopnea	8021	NUP214	OMIM:618426
HP:0040213	Hypopnea	219854	TMEM218	OMIM:619562
HP:0040214	Abnormal circulating insulin concentration	4351	MPI	ORPHA:79319
HP:0040214	Abnormal circulating insulin concentration	4351	MPI	OMIM:602579
HP:0040214	Abnormal circulating insulin concentration	54914	FOCAD	OMIM:619991
HP:0040214	Abnormal circulating insulin concentration	6566	SLC16A1	OMIM:610021
HP:0040214	Abnormal circulating insulin concentration	389692	MAFA	OMIM:147630
HP:0040214	Abnormal circulating insulin concentration	93587	TRMT10A	OMIM:616033
HP:0040214	Abnormal circulating insulin concentration	7351	UCP2	ORPHA:276556
HP:0040214	Abnormal circulating insulin concentration	7840	ALMS1	ORPHA:64
HP:0040214	Abnormal circulating insulin concentration	7840	ALMS1	OMIM:203800
HP:0040214	Abnormal circulating insulin concentration	10269	ZMPSTE24	OMIM:608612
HP:0040214	Abnormal circulating insulin concentration	1621	DBH	ORPHA:230
HP:0040214	Abnormal circulating insulin concentration	92840	REEP6	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6094	ROM1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6017	RLBP1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	7401	CLRN1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	24	ABCA4	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	130557	ZNF513	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	582	BBS1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	92211	CDHR1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	23568	ARL2BP	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6121	RPE65	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	54806	AHI1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6101	RP1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	3419	IDH3A	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	4751	NEK2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	346007	EYS	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	8100	IFT88	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	23020	SNRNP200	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	762	CA4	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	138050	HGSNAT	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	196	AHR	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	3614	IMPDH1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	123016	TTC8	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6103	RPGR	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	1406	CRX	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5148	PDE6G	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	26160	IFT172	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	26121	PRPF31	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	583	BBS2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	4117	MAK	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	25794	FSCN2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	375298	CERKL	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	3420	IDH3B	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	57670	KIAA1549	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	7275	TUB	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	24148	PRPF6	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	23418	CRB1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	10461	MERTK	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	57709	SLC7A14	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	768206	PRCD	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	7399	USH2A	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	23370	ARHGEF18	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5949	RBP3	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6010	RHO	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6100	RP9	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	10002	NR2E3	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	9227	LRAT	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	84140	FAM161A	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	55812	SPATA7	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	55624	POMGNT1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	79797	ZNF408	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	403	ARL3	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5145	PDE6A	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	10210	TOPORS	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	8842	PROM1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	9128	PRPF4	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	145226	RDH12	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	50939	IMPG2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	8481	OFD1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	49855	SCAPER	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	9742	IFT140	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	2979	GUCA1B	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	1259	CNGA1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	1258	CNGB1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	60509	AGBL5	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5961	PRPH2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	388939	PCARE	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	7439	BEST1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	9785	DHX38	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	7287	TULP1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5995	RGR	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	9129	PRPF3	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	55975	KLHL7	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	3617	IMPG1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	94137	RP1L1	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	5158	PDE6B	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6102	RP2	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	55857	KIZ	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	64218	SEMA4A	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	4901	NRL	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	157657	CFAP418	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	10594	PRPF8	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	84100	ARL6	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6295	SAG	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	79947	DHDDS	ORPHA:791
HP:0040214	Abnormal circulating insulin concentration	6492	SIM1	ORPHA:369873
HP:0040214	Abnormal circulating insulin concentration	26580	BSCL2	OMIM:269700
HP:0040214	Abnormal circulating insulin concentration	26580	BSCL2	ORPHA:363400
HP:0040214	Abnormal circulating insulin concentration	26580	BSCL2	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	4160	MC4R	ORPHA:71529
HP:0040214	Abnormal circulating insulin concentration	4160	MC4R	OMIM:618406
HP:0040214	Abnormal circulating insulin concentration	5443	POMC	ORPHA:71526
HP:0040214	Abnormal circulating insulin concentration	80067	DCAF17	ORPHA:3464
HP:0040214	Abnormal circulating insulin concentration	7681	MKRN3	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	3653	IPW	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	54551	MAGEL2	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	791114	PWRN1	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	100033413	SNORD116-1	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	8924	HERC2	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	145624	PWAR1	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	23742	NPAP1	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	338433	SNORD115-1	OMIM:176270
HP:0040214	Abnormal circulating insulin concentration	23137	SMC5	OMIM:620185
HP:0040214	Abnormal circulating insulin concentration	2099	ESR1	ORPHA:785
HP:0040214	Abnormal circulating insulin concentration	2099	ESR1	OMIM:615363
HP:0040214	Abnormal circulating insulin concentration	5346	PLIN1	ORPHA:280356
HP:0040214	Abnormal circulating insulin concentration	5468	PPARG	OMIM:604367
HP:0040214	Abnormal circulating insulin concentration	5468	PPARG	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	25970	SH2B1	ORPHA:329249
HP:0040214	Abnormal circulating insulin concentration	1363	CPE	OMIM:619326
HP:0040214	Abnormal circulating insulin concentration	129563	DIS3L2	ORPHA:2849
HP:0040214	Abnormal circulating insulin concentration	3952	LEP	ORPHA:66628
HP:0040214	Abnormal circulating insulin concentration	5373	PMM2	ORPHA:79318
HP:0040214	Abnormal circulating insulin concentration	10555	AGPAT2	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	10555	AGPAT2	OMIM:608594
HP:0040214	Abnormal circulating insulin concentration	284119	CAVIN1	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	284119	CAVIN1	OMIM:613327
HP:0040214	Abnormal circulating insulin concentration	2353	FOS	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	857	CAV1	ORPHA:528
HP:0040214	Abnormal circulating insulin concentration	109	ADCY3	OMIM:617885
HP:0040214	Abnormal circulating insulin concentration	3953	LEPR	ORPHA:179494
HP:0040214	Abnormal circulating insulin concentration	55186	SLC25A36	OMIM:620211
HP:0040214	Abnormal circulating insulin concentration	2584	GALK1	ORPHA:79237
HP:0040214	Abnormal circulating insulin concentration	2746	GLUD1	ORPHA:35878
HP:0040214	Abnormal circulating insulin concentration	3033	HADH	ORPHA:71212
HP:0040214	Abnormal circulating insulin concentration	4000	LMNA	ORPHA:79474
HP:0040214	Abnormal circulating insulin concentration	4221	MEN1	ORPHA:97279
HP:0040214	Abnormal circulating insulin concentration	7528	YY1	ORPHA:97279
HP:0040214	Abnormal circulating insulin concentration	60676	PAPPA2	OMIM:619489
HP:0040214	Abnormal circulating insulin concentration	1027	CDKN1B	ORPHA:276152
HP:0040214	Abnormal circulating insulin concentration	3643	INSR	OMIM:609968
HP:0040214	Abnormal circulating insulin concentration	3767	KCNJ11	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	8462	KLF11	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	2645	GCK	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	26060	APPL1	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	640	BLK	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	1056	CEL	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	4760	NEUROD1	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	3651	PDX1	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	6833	ABCC8	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	5078	PAX4	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	3172	HNF4A	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	6927	HNF1A	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	3630	INS	ORPHA:552
HP:0040214	Abnormal circulating insulin concentration	79048	SECISBP2	ORPHA:171706
HP:0040214	Abnormal circulating insulin concentration	6524	SLC5A2	ORPHA:69076
HP:0040214	Abnormal circulating insulin concentration	208	AKT2	ORPHA:293964
HP:0040214	Abnormal circulating insulin concentration	4665	NAB2	ORPHA:2126
HP:0040214	Abnormal circulating insulin concentration	6778	STAT6	ORPHA:2126
HP:0040214	Abnormal circulating insulin concentration	5122	PCSK1	OMIM:600955
HP:0040214	Abnormal circulating insulin concentration	54941	RNF125	OMIM:616260
HP:0040214	Abnormal circulating insulin concentration	23312	DMXL2	ORPHA:453533
HP:0040214	Abnormal circulating insulin concentration	346171	ZFP57	ORPHA:99886
HP:0040214	Abnormal circulating insulin concentration	57061	HYMAI	ORPHA:99886
HP:0040214	Abnormal circulating insulin concentration	5325	PLAGL1	ORPHA:99886
HP:0040216	Hypoinsulinemia	3767	KCNJ11	ORPHA:552
HP:0040216	Hypoinsulinemia	3767	KCNJ11	ORPHA:99886
HP:0040216	Hypoinsulinemia	8462	KLF11	ORPHA:552
HP:0040216	Hypoinsulinemia	2645	GCK	ORPHA:552
HP:0040216	Hypoinsulinemia	26060	APPL1	ORPHA:552
HP:0040216	Hypoinsulinemia	640	BLK	ORPHA:552
HP:0040216	Hypoinsulinemia	1056	CEL	ORPHA:552
HP:0040216	Hypoinsulinemia	4760	NEUROD1	ORPHA:552
HP:0040216	Hypoinsulinemia	3651	PDX1	ORPHA:552
HP:0040216	Hypoinsulinemia	6833	ABCC8	ORPHA:552
HP:0040216	Hypoinsulinemia	6833	ABCC8	ORPHA:99886
HP:0040216	Hypoinsulinemia	5078	PAX4	ORPHA:552
HP:0040216	Hypoinsulinemia	3172	HNF4A	ORPHA:552
HP:0040216	Hypoinsulinemia	6927	HNF1A	ORPHA:552
HP:0040216	Hypoinsulinemia	3630	INS	ORPHA:552
HP:0040216	Hypoinsulinemia	4665	NAB2	ORPHA:2126
HP:0040216	Hypoinsulinemia	6778	STAT6	ORPHA:2126
HP:0040216	Hypoinsulinemia	208	AKT2	OMIM:240900
HP:0040216	Hypoinsulinemia	5122	PCSK1	OMIM:600955
HP:0040216	Hypoinsulinemia	54941	RNF125	OMIM:616260
HP:0040216	Hypoinsulinemia	23312	DMXL2	ORPHA:453533
HP:0040216	Hypoinsulinemia	346171	ZFP57	ORPHA:99886
HP:0040216	Hypoinsulinemia	57061	HYMAI	ORPHA:99886
HP:0040216	Hypoinsulinemia	5325	PLAGL1	ORPHA:99886
HP:0040217	Elevated hemoglobin A1c	3767	KCNJ11	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	3767	KCNJ11	OMIM:610582
HP:0040217	Elevated hemoglobin A1c	3767	KCNJ11	OMIM:616329
HP:0040217	Elevated hemoglobin A1c	3767	KCNJ11	ORPHA:79134
HP:0040217	Elevated hemoglobin A1c	8462	KLF11	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	2645	GCK	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	2645	GCK	OMIM:606176
HP:0040217	Elevated hemoglobin A1c	26060	APPL1	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	26060	APPL1	OMIM:616511
HP:0040217	Elevated hemoglobin A1c	640	BLK	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	1056	CEL	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	1056	CEL	OMIM:609812
HP:0040217	Elevated hemoglobin A1c	4760	NEUROD1	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	3651	PDX1	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	6833	ABCC8	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	6833	ABCC8	ORPHA:79134
HP:0040217	Elevated hemoglobin A1c	5078	PAX4	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	3172	HNF4A	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	6927	HNF1A	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	3630	INS	ORPHA:552
HP:0040217	Elevated hemoglobin A1c	3630	INS	OMIM:618858
HP:0040217	Elevated hemoglobin A1c	5611	DNAJC3	OMIM:616192
HP:0040217	Elevated hemoglobin A1c	6524	SLC5A2	ORPHA:69076
HP:0040217	Elevated hemoglobin A1c	81555	YIPF5	OMIM:619278
HP:0040217	Elevated hemoglobin A1c	286053	NSMCE2	OMIM:617253
HP:0040217	Elevated hemoglobin A1c	63036	CELA2A	OMIM:618620
HP:0040217	Elevated hemoglobin A1c	10651	MTX2	OMIM:619127
HP:0040217	Elevated hemoglobin A1c	23312	DMXL2	OMIM:616113
HP:0040217	Elevated hemoglobin A1c	26580	BSCL2	OMIM:269700
HP:0040217	Elevated hemoglobin A1c	641	BLM	OMIM:210900
HP:0040217	Elevated hemoglobin A1c	57570	TRMT5	OMIM:616539
HP:0040217	Elevated hemoglobin A1c	7486	WRN	OMIM:277700
HP:0040217	Elevated hemoglobin A1c	79731	NARS2	ORPHA:79134
HP:0040218	Reduced natural killer cell count	3561	IL2RG	ORPHA:276
HP:0040218	Reduced natural killer cell count	1789	DNMT3B	OMIM:242860
HP:0040218	Reduced natural killer cell count	970	CD70	OMIM:618261
HP:0040218	Reduced natural killer cell count	3551	IKBKB	OMIM:615592
HP:0040218	Reduced natural killer cell count	10043	TOM1	OMIM:619510
HP:0040218	Reduced natural killer cell count	3572	IL6ST	OMIM:619752
HP:0040218	Reduced natural killer cell count	55388	MCM10	OMIM:619313
HP:0040218	Reduced natural killer cell count	5295	PIK3R1	OMIM:615214
HP:0040218	Reduced natural killer cell count	5238	PGM3	ORPHA:443811
HP:0040218	Reduced natural killer cell count	8737	RIPK1	OMIM:618108
HP:0040218	Reduced natural killer cell count	54440	SASH3	OMIM:301082
HP:0040218	Reduced natural killer cell count	5293	PIK3CD	ORPHA:221139
HP:0040218	Reduced natural killer cell count	90417	KNSTRN	ORPHA:221139
HP:0040218	Reduced natural killer cell count	4173	MCM4	OMIM:609981
HP:0040218	Reduced natural killer cell count	8546	AP3B1	OMIM:608233
HP:0040218	Reduced natural killer cell count	6850	SYK	OMIM:619381
HP:0040218	Reduced natural killer cell count	2000	ELF4	OMIM:301074
HP:0040218	Reduced natural killer cell count	58484	NLRC4	OMIM:616050
HP:0040218	Reduced natural killer cell count	81704	DOCK8	OMIM:243700
HP:0040218	Reduced natural killer cell count	2624	GATA2	OMIM:614172
HP:0040218	Reduced natural killer cell count	567	B2M	OMIM:241600
HP:0040218	Reduced natural killer cell count	5788	PTPRC	OMIM:619924
HP:0040218	Reduced natural killer cell count	5294	PIK3CG	OMIM:619802
HP:0040218	Reduced natural killer cell count	2214	FCGR3A	OMIM:615707
HP:0040218	Reduced natural killer cell count	64858	DCLRE1B	OMIM:620133
HP:0040219	Absent natural killer cells	3718	JAK3	OMIM:600802
HP:0040219	Absent natural killer cells	3718	JAK3	ORPHA:35078
HP:0040219	Absent natural killer cells	9837	GINS1	OMIM:617827
HP:0030001	Lagophthalmos	57479	PRR12	OMIM:619539
HP:0030001	Lagophthalmos	3211	HOXB1	OMIM:614744
HP:0030001	Lagophthalmos	999	CDH1	OMIM:119580
HP:0030001	Lagophthalmos	1500	CTNND1	OMIM:617681
HP:0030001	Lagophthalmos	3190	HNRNPK	OMIM:616580
HP:0030001	Lagophthalmos	55768	NGLY1	ORPHA:404454
HP:0030001	Lagophthalmos	389827	MYMK	OMIM:254940
HP:0030001	Lagophthalmos	11128	POLR3A	ORPHA:3455
HP:0030001	Lagophthalmos	9427	ECEL1	OMIM:615065
HP:0030001	Lagophthalmos	4000	LMNA	ORPHA:740
HP:0030001	Lagophthalmos	10269	ZMPSTE24	ORPHA:740
HP:0030001	Lagophthalmos	54101	RIPK4	OMIM:263650
HP:0030002	Nocturnal lagophthalmos	4000	LMNA	ORPHA:740
HP:0030002	Nocturnal lagophthalmos	10269	ZMPSTE24	ORPHA:740
HP:0030004	Cicatricial lagophthalmos	54101	RIPK4	OMIM:263650
HP:0030005	Capillary leak	3932	LCK	OMIM:615758
HP:0030005	Capillary leak	2492	FSHR	ORPHA:64739
HP:0030006	Single fiber EMG abnormality	199857	ALG14	OMIM:616227
HP:0030006	Single fiber EMG abnormality	199857	ALG14	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	1305	COL13A1	OMIM:616720
HP:0030006	Single fiber EMG abnormality	1798	DPAGT1	OMIM:614750
HP:0030006	Single fiber EMG abnormality	1798	DPAGT1	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	6576	SLC25A1	OMIM:618197
HP:0030006	Single fiber EMG abnormality	29925	GMPPB	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	2673	GFPT1	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	85365	ALG2	ORPHA:353327
HP:0030007	EMG: positive sharp waves	23064	SETX	OMIM:602433
HP:0030007	EMG: positive sharp waves	6445	SGCG	ORPHA:353
HP:0030007	EMG: positive sharp waves	10342	TFG	ORPHA:90117
HP:0030007	EMG: positive sharp waves	10133	OPTN	OMIM:613435
HP:0030007	EMG: positive sharp waves	311	ANXA11	OMIM:619733
HP:0030007	EMG: positive sharp waves	4929	NR4A2	OMIM:619911
HP:0030007	EMG: positive sharp waves	1785	DNM2	OMIM:160150
HP:0030007	EMG: positive sharp waves	64419	MTMR14	OMIM:160150
HP:0030007	EMG: positive sharp waves	10020	GNE	ORPHA:602
HP:0040220	Abnormal size of the dental root	64135	IFIH1	OMIM:182250
HP:0040220	Abnormal size of the dental root	2260	FGFR1	ORPHA:99798
HP:0040220	Abnormal size of the dental root	4487	MSX1	ORPHA:99798
HP:0040220	Abnormal size of the dental root	128178	EDARADD	ORPHA:99798
HP:0040220	Abnormal size of the dental root	5083	PAX9	ORPHA:99798
HP:0040220	Abnormal size of the dental root	7341	SUMO1	ORPHA:99798
HP:0040220	Abnormal size of the dental root	80326	WNT10A	ORPHA:99798
HP:0040220	Abnormal size of the dental root	1896	EDA	ORPHA:99798
HP:0040220	Abnormal size of the dental root	8313	AXIN2	ORPHA:99798
HP:0040220	Abnormal size of the dental root	3664	IRF6	ORPHA:99798
HP:0040220	Abnormal size of the dental root	4040	LRP6	ORPHA:99798
HP:0040220	Abnormal size of the dental root	7039	TGFA	ORPHA:99798
HP:0040220	Abnormal size of the dental root	7480	WNT10B	ORPHA:99798
HP:0040220	Abnormal size of the dental root	64094	SMOC2	OMIM:125400
HP:0040220	Abnormal size of the dental root	54880	BCOR	OMIM:300166
HP:0040220	Abnormal size of the dental root	4796	TONSL	ORPHA:93357
HP:0040221	Hypoplasia of the dental root	4796	TONSL	ORPHA:93357
HP:0040223	Pulmonary hemorrhage	7454	WAS	ORPHA:906
HP:0040223	Pulmonary hemorrhage	7456	WIPF1	ORPHA:906
HP:0040223	Pulmonary hemorrhage	1493	CTLA4	ORPHA:900
HP:0040223	Pulmonary hemorrhage	26191	PTPN22	ORPHA:900
HP:0040223	Pulmonary hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0040223	Pulmonary hemorrhage	5657	PRTN3	ORPHA:900
HP:0040223	Pulmonary hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0040223	Pulmonary hemorrhage	1281	COL3A1	OMIM:130050
HP:0040223	Pulmonary hemorrhage	6774	STAT3	ORPHA:520
HP:0040223	Pulmonary hemorrhage	5371	PML	ORPHA:520
HP:0040223	Pulmonary hemorrhage	5914	RARA	ORPHA:520
HP:0040223	Pulmonary hemorrhage	359948	IRF2BP2	ORPHA:520
HP:0040223	Pulmonary hemorrhage	81608	FIP1L1	ORPHA:520
HP:0040223	Pulmonary hemorrhage	4869	NPM1	ORPHA:520
HP:0040223	Pulmonary hemorrhage	5573	PRKAR1A	ORPHA:520
HP:0040223	Pulmonary hemorrhage	54880	BCOR	ORPHA:520
HP:0040223	Pulmonary hemorrhage	64859	NABP1	ORPHA:520
HP:0040223	Pulmonary hemorrhage	6777	STAT5B	ORPHA:520
HP:0040223	Pulmonary hemorrhage	4926	NUMA1	ORPHA:520
HP:0040223	Pulmonary hemorrhage	7704	ZBTB16	ORPHA:520
HP:0040223	Pulmonary hemorrhage	79718	TBL1XR1	ORPHA:520
HP:0040223	Pulmonary hemorrhage	58484	NLRC4	OMIM:616050
HP:0040223	Pulmonary hemorrhage	440275	EIF2AK4	ORPHA:199241
HP:0040223	Pulmonary hemorrhage	3162	HMOX1	OMIM:614034
HP:0040223	Pulmonary hemorrhage	1314	COPA	OMIM:616414
HP:0040223	Pulmonary hemorrhage	9056	SLC7A7	OMIM:222700
HP:0040223	Pulmonary hemorrhage	10559	SLC35A1	ORPHA:238459
HP:0040223	Pulmonary hemorrhage	10559	SLC35A1	OMIM:603585
HP:0040223	Pulmonary hemorrhage	2022	ENG	OMIM:187300
HP:0040223	Pulmonary hemorrhage	10664	CTCF	ORPHA:363611
HP:0040223	Pulmonary hemorrhage	57169	ZNFX1	OMIM:619644
HP:0040223	Pulmonary hemorrhage	3431	SP110	ORPHA:79124
HP:0040224	Abnormality of fibrinolysis	6773	STAT2	OMIM:618886
HP:0040224	Abnormality of fibrinolysis	5345	SERPINF2	ORPHA:79
HP:0040224	Abnormality of fibrinolysis	5054	SERPINE1	ORPHA:465
HP:0040226	Decreased level of heparin co-factor II	462	SERPINC1	OMIM:613118
HP:0040227	Decreased level of histidine-rich glycoprotein	3273	HRG	OMIM:613116
HP:0040228	Decreased level of plasminogen	5054	SERPINE1	ORPHA:465
HP:0040228	Decreased level of plasminogen	5340	PLG	OMIM:217090
HP:0040228	Decreased level of plasminogen	5340	PLG	ORPHA:722
HP:0030009	Cervical insufficiency	1281	COL3A1	OMIM:130050
HP:0030009	Cervical insufficiency	1277	COL1A1	ORPHA:287
HP:0030009	Cervical insufficiency	1289	COL5A1	ORPHA:287
HP:0030009	Cervical insufficiency	1290	COL5A2	ORPHA:287
HP:0004150	Abnormal 3rd finger morphology	1280	COL2A1	OMIM:271700
HP:0004150	Abnormal 3rd finger morphology	2778	GNAS	ORPHA:79445
HP:0004150	Abnormal 3rd finger morphology	50814	NSDHL	OMIM:308050
HP:0004150	Abnormal 3rd finger morphology	2019	EN1	OMIM:619218
HP:0004150	Abnormal 3rd finger morphology	6926	TBX3	OMIM:181450
HP:0004150	Abnormal 3rd finger morphology	8200	GDF5	OMIM:113100
HP:0004150	Abnormal 3rd finger morphology	3549	IHH	OMIM:112500
HP:0004150	Abnormal 3rd finger morphology	2263	FGFR2	OMIM:149730
HP:0004150	Abnormal 3rd finger morphology	51651	PTRH2	OMIM:616263
HP:0004150	Abnormal 3rd finger morphology	51651	PTRH2	ORPHA:456312
HP:0004150	Abnormal 3rd finger morphology	1836	SLC26A2	ORPHA:93307
HP:0004150	Abnormal 3rd finger morphology	81857	MED25	ORPHA:464738
HP:0004150	Abnormal 3rd finger morphology	8243	SMC1A	OMIM:301044
HP:0004150	Abnormal 3rd finger morphology	1277	COL1A1	OMIM:130060
HP:0004150	Abnormal 3rd finger morphology	6909	TBX2	OMIM:618223
HP:0004150	Abnormal 3rd finger morphology	23327	NEDD4L	OMIM:617201
HP:0004150	Abnormal 3rd finger morphology	8985	PLOD3	OMIM:612394
HP:0004150	Abnormal 3rd finger morphology	2737	GLI3	ORPHA:672
HP:0004150	Abnormal 3rd finger morphology	7291	TWIST1	OMIM:101400
HP:0004150	Abnormal 3rd finger morphology	22856	CHSY1	ORPHA:363417
HP:0004150	Abnormal 3rd finger morphology	91461	PKDCC	OMIM:618821
HP:0004150	Abnormal 3rd finger morphology	388015	RTL1	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	8788	DLK1	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	55384	MEG3	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004150	Abnormal 3rd finger morphology	90417	KNSTRN	ORPHA:221139
HP:0030010	Hydrometrocolpos	2737	GLI3	ORPHA:672
HP:0030010	Hydrometrocolpos	166379	BBS12	OMIM:615989
HP:0030010	Hydrometrocolpos	8195	MKKS	OMIM:236700
HP:0030010	Hydrometrocolpos	8195	MKKS	ORPHA:2473
HP:0030010	Hydrometrocolpos	7490	WT1	ORPHA:3097
HP:0030010	Hydrometrocolpos	51626	DYNC2LI1	OMIM:617088
HP:0030011	Imperforate hymen	54101	RIPK4	ORPHA:1401
HP:0030011	Imperforate hymen	57514	ARHGAP31	OMIM:100300
HP:0030011	Imperforate hymen	6926	TBX3	OMIM:181450
HP:0030011	Imperforate hymen	7750	ZMYM2	OMIM:619522
HP:0030012	Abnormal female reproductive system physiology	2157	F8	ORPHA:177926
HP:0030012	Abnormal female reproductive system physiology	2157	F8	ORPHA:169802
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	OMIM:153670
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	2812	GP1BB	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2812	GP1BB	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	2815	GP9	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2815	GP9	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:193400
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:613554
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:277480
HP:0030012	Abnormal female reproductive system physiology	2155	F7	OMIM:227500
HP:0030012	Abnormal female reproductive system physiology	2155	F7	ORPHA:327
HP:0030012	Abnormal female reproductive system physiology	5054	SERPINE1	ORPHA:465
HP:0030012	Abnormal female reproductive system physiology	5054	SERPINE1	OMIM:613329
HP:0030012	Abnormal female reproductive system physiology	89781	HPS4	OMIM:614073
HP:0030012	Abnormal female reproductive system physiology	388552	BLOC1S3	OMIM:614077
HP:0030012	Abnormal female reproductive system physiology	3998	LMAN1	ORPHA:35909
HP:0030012	Abnormal female reproductive system physiology	90411	MCFD2	ORPHA:35909
HP:0030012	Abnormal female reproductive system physiology	90411	MCFD2	OMIM:613625
HP:0030012	Abnormal female reproductive system physiology	84062	DTNBP1	OMIM:614076
HP:0030012	Abnormal female reproductive system physiology	5568	PRKACG	OMIM:616176
HP:0030012	Abnormal female reproductive system physiology	10235	RASGRP2	OMIM:615888
HP:0030012	Abnormal female reproductive system physiology	2165	F13B	ORPHA:331
HP:0030012	Abnormal female reproductive system physiology	2162	F13A1	ORPHA:331
HP:0030012	Abnormal female reproductive system physiology	63915	BLOC1S5	OMIM:619172
HP:0030012	Abnormal female reproductive system physiology	2159	F10	OMIM:227600
HP:0030012	Abnormal female reproductive system physiology	2159	F10	ORPHA:328
HP:0030012	Abnormal female reproductive system physiology	51206	GP6	OMIM:614201
HP:0030012	Abnormal female reproductive system physiology	2147	F2	OMIM:613679
HP:0030012	Abnormal female reproductive system physiology	2147	F2	ORPHA:325
HP:0030012	Abnormal female reproductive system physiology	2160	F11	ORPHA:329
HP:0030012	Abnormal female reproductive system physiology	4627	MYH9	OMIM:155100
HP:0030012	Abnormal female reproductive system physiology	4627	MYH9	ORPHA:182050
HP:0030012	Abnormal female reproductive system physiology	5328	PLAU	OMIM:601709
HP:0030012	Abnormal female reproductive system physiology	342618	SLFN14	OMIM:616913
HP:0030012	Abnormal female reproductive system physiology	1729	DIAPH1	OMIM:124900
HP:0030012	Abnormal female reproductive system physiology	472	ATM	OMIM:208900
HP:0030012	Abnormal female reproductive system physiology	652	BMP4	OMIM:607932
HP:0030012	Abnormal female reproductive system physiology	9319	TRIP13	OMIM:619011
HP:0030012	Abnormal female reproductive system physiology	540	ATP7B	ORPHA:905
HP:0030012	Abnormal female reproductive system physiology	54766	BTG4	OMIM:619009
HP:0030012	Abnormal female reproductive system physiology	55109	AGGF1	ORPHA:90308
HP:0030012	Abnormal female reproductive system physiology	7454	WAS	ORPHA:906
HP:0030012	Abnormal female reproductive system physiology	7456	WIPF1	ORPHA:906
HP:0030012	Abnormal female reproductive system physiology	6736	SRY	OMIM:400044
HP:0030012	Abnormal female reproductive system physiology	23218	NBEAL2	ORPHA:721
HP:0030012	Abnormal female reproductive system physiology	1027	CDKN1B	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1026	CDKN1A	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1030	CDKN2B	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1031	CDKN2C	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	84196	USP48	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	7157	TP53	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	9101	USP8	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	2908	NR3C1	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	673	BRAF	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	546	ATRX	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	5618	PRLR	ORPHA:397685
HP:0030012	Abnormal female reproductive system physiology	7476	WNT7A	OMIM:228930
HP:0030012	Abnormal female reproductive system physiology	654	BMP6	ORPHA:465508
HP:0030012	Abnormal female reproductive system physiology	3077	HFE	ORPHA:465508
HP:0030012	Abnormal female reproductive system physiology	3077	HFE	OMIM:235200
HP:0030012	Abnormal female reproductive system physiology	8314	BAP1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	4771	NF2	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6598	SMARCB1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	5155	PDGFB	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	84231	TRAF7	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6608	SMO	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	207	AKT1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	5290	PIK3CA	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	7015	TERT	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	51684	SUFU	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6605	SMARCE1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	23438	HARS2	OMIM:614926
HP:0030012	Abnormal female reproductive system physiology	148738	HJV	OMIM:602390
HP:0030012	Abnormal female reproductive system physiology	5468	PPARG	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	10555	AGPAT2	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	284119	CAVIN1	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	26580	BSCL2	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	2353	FOS	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	7036	TFR2	OMIM:604250
HP:0030012	Abnormal female reproductive system physiology	3981	LIG4	OMIM:606593
HP:0030012	Abnormal female reproductive system physiology	5626	PROP1	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5626	PROP1	ORPHA:90695
HP:0030012	Abnormal female reproductive system physiology	2736	GLI2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	89884	LHX4	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	3170	FOXA2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5449	POU1F1	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5015	OTX2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	4439	MSH5	OMIM:617442
HP:0030012	Abnormal female reproductive system physiology	55315	SLC29A3	ORPHA:168569
HP:0030012	Abnormal female reproductive system physiology	84168	ANTXR1	ORPHA:2067
HP:0030012	Abnormal female reproductive system physiology	6658	SOX3	ORPHA:90695
HP:0030012	Abnormal female reproductive system physiology	650	BMP2	OMIM:235200
HP:0030012	Abnormal female reproductive system physiology	2100	ESR2	OMIM:618187
HP:0030012	Abnormal female reproductive system physiology	5447	POR	ORPHA:95699
HP:0030012	Abnormal female reproductive system physiology	5447	POR	OMIM:201750
HP:0030012	Abnormal female reproductive system physiology	2099	ESR1	ORPHA:785
HP:0030012	Abnormal female reproductive system physiology	2099	ESR1	OMIM:615363
HP:0030012	Abnormal female reproductive system physiology	9150	CTDP1	OMIM:604168
HP:0030012	Abnormal female reproductive system physiology	367	AR	ORPHA:90797
HP:0030012	Abnormal female reproductive system physiology	367	AR	OMIM:300068
HP:0030012	Abnormal female reproductive system physiology	367	AR	ORPHA:99429
HP:0030012	Abnormal female reproductive system physiology	6492	SIM1	ORPHA:398079
HP:0030012	Abnormal female reproductive system physiology	1363	CPE	OMIM:619326
HP:0030012	Abnormal female reproductive system physiology	3952	LEP	ORPHA:66628
HP:0030012	Abnormal female reproductive system physiology	3952	LEP	OMIM:614962
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	254394	MCM9	OMIM:616185
HP:0030012	Abnormal female reproductive system physiology	55154	MSTO1	OMIM:617675
HP:0030012	Abnormal female reproductive system physiology	55154	MSTO1	ORPHA:502423
HP:0030012	Abnormal female reproductive system physiology	9692	PRORP	OMIM:619737
HP:0030012	Abnormal female reproductive system physiology	658	BMPR1B	OMIM:609441
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	OMIM:136680
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	ORPHA:347
HP:0030012	Abnormal female reproductive system physiology	54361	WNT4	OMIM:158330
HP:0030012	Abnormal female reproductive system physiology	54361	WNT4	ORPHA:247768
HP:0030012	Abnormal female reproductive system physiology	23347	SMCHD1	OMIM:603457
HP:0030012	Abnormal female reproductive system physiology	2661	GDF9	OMIM:618014
HP:0030012	Abnormal female reproductive system physiology	51199	NIN	OMIM:614851
HP:0030012	Abnormal female reproductive system physiology	51199	NIN	ORPHA:319675
HP:0030012	Abnormal female reproductive system physiology	9723	SEMA3E	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	558	AXL	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	10011	SRA1	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	3953	LEPR	ORPHA:179494
HP:0030012	Abnormal female reproductive system physiology	6662	SOX9	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	6845	VAMP7	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	51741	WWOX	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	4214	MAP3K1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	58524	DMRT3	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	57647	DHX37	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	57647	DHX37	OMIM:273250
HP:0030012	Abnormal female reproductive system physiology	23414	ZFPM2	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	190	NR0B1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	2626	GATA4	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	OMIM:233420
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	OMIM:607080
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	ORPHA:168563
HP:0030012	Abnormal female reproductive system physiology	1588	CYP19A1	ORPHA:91
HP:0030012	Abnormal female reproductive system physiology	1588	CYP19A1	OMIM:613546
HP:0030012	Abnormal female reproductive system physiology	23476	BRD4	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	9126	SMC3	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	8243	SMC1A	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	25836	NIPBL	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	55869	HDAC8	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	5885	RAD21	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	402381	SOHLH1	OMIM:617690
HP:0030012	Abnormal female reproductive system physiology	5189	PEX1	ORPHA:3220
HP:0030012	Abnormal female reproductive system physiology	5190	PEX6	ORPHA:3220
HP:0030012	Abnormal female reproductive system physiology	6091	ROBO1	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	50937	CDON	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	23432	GPR161	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	2625	GATA3	OMIM:146255
HP:0030012	Abnormal female reproductive system physiology	3295	HSD17B4	OMIM:233400
HP:0030012	Abnormal female reproductive system physiology	5122	PCSK1	OMIM:600955
HP:0030012	Abnormal female reproductive system physiology	8565	YARS1	OMIM:619418
HP:0030012	Abnormal female reproductive system physiology	8192	CLPP	OMIM:614129
HP:0030012	Abnormal female reproductive system physiology	93426	SYCE1	OMIM:616947
HP:0030012	Abnormal female reproductive system physiology	8626	TP63	ORPHA:69085
HP:0030012	Abnormal female reproductive system physiology	8516	ITGA8	OMIM:191830
HP:0030012	Abnormal female reproductive system physiology	93587	TRMT10A	OMIM:616033
HP:0030012	Abnormal female reproductive system physiology	50964	SOST	OMIM:269500
HP:0030012	Abnormal female reproductive system physiology	5573	PRKAR1A	ORPHA:950
HP:0030012	Abnormal female reproductive system physiology	5573	PRKAR1A	ORPHA:189439
HP:0030012	Abnormal female reproductive system physiology	5573	PRKAR1A	OMIM:101800
HP:0030012	Abnormal female reproductive system physiology	5144	PDE4D	ORPHA:950
HP:0030012	Abnormal female reproductive system physiology	2261	FGFR3	OMIM:616482
HP:0030012	Abnormal female reproductive system physiology	5566	PRKACA	ORPHA:189439
HP:0030012	Abnormal female reproductive system physiology	8622	PDE8B	ORPHA:189439
HP:0030012	Abnormal female reproductive system physiology	50940	PDE11A	ORPHA:189439
HP:0030012	Abnormal female reproductive system physiology	63924	CIDEC	OMIM:615238
HP:0030012	Abnormal female reproductive system physiology	5257	PHKB	ORPHA:79240
HP:0030012	Abnormal female reproductive system physiology	2778	GNAS	ORPHA:562
HP:0030012	Abnormal female reproductive system physiology	2778	GNAS	ORPHA:189427
HP:0030012	Abnormal female reproductive system physiology	57697	FANCM	OMIM:618096
HP:0030012	Abnormal female reproductive system physiology	5256	PHKA2	ORPHA:264580
HP:0030012	Abnormal female reproductive system physiology	5261	PHKG2	ORPHA:264580
HP:0030012	Abnormal female reproductive system physiology	29072	SETD2	OMIM:616831
HP:0030012	Abnormal female reproductive system physiology	79798	ARMC5	ORPHA:189427
HP:0030012	Abnormal female reproductive system physiology	27241	BBS9	OMIM:615986
HP:0030012	Abnormal female reproductive system physiology	5696	PSMB8	OMIM:256040
HP:0030012	Abnormal female reproductive system physiology	1161	ERCC8	OMIM:216400
HP:0030012	Abnormal female reproductive system physiology	1586	CYP17A1	ORPHA:90793
HP:0030012	Abnormal female reproductive system physiology	2542	SLC37A4	ORPHA:79259
HP:0030012	Abnormal female reproductive system physiology	1584	CYP11B1	ORPHA:90795
HP:0030012	Abnormal female reproductive system physiology	4438	MSH4	OMIM:619938
HP:0030012	Abnormal female reproductive system physiology	57817	HAMP	OMIM:613313
HP:0030012	Abnormal female reproductive system physiology	9060	PAPSS2	OMIM:612847
HP:0030012	Abnormal female reproductive system physiology	7486	WRN	ORPHA:902
HP:0030012	Abnormal female reproductive system physiology	6907	TBL1X	OMIM:301033
HP:0030012	Abnormal female reproductive system physiology	5718	PSMD12	ORPHA:529962
HP:0030012	Abnormal female reproductive system physiology	2186	BPTF	ORPHA:529962
HP:0030012	Abnormal female reproductive system physiology	7086	TKT	ORPHA:488618
HP:0030012	Abnormal female reproductive system physiology	9563	H6PD	OMIM:604931
HP:0030012	Abnormal female reproductive system physiology	3991	LIPE	ORPHA:435660
HP:0030012	Abnormal female reproductive system physiology	2074	ERCC6	OMIM:616946
HP:0030012	Abnormal female reproductive system physiology	208	AKT2	ORPHA:79085
HP:0030012	Abnormal female reproductive system physiology	5346	PLIN1	OMIM:613877
HP:0030012	Abnormal female reproductive system physiology	5346	PLIN1	ORPHA:280356
HP:0030012	Abnormal female reproductive system physiology	7681	MKRN3	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	3653	IPW	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	54551	MAGEL2	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	791114	PWRN1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	100033413	SNORD116-1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	8924	HERC2	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	145624	PWAR1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	23742	NPAP1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	338433	SNORD115-1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	493856	CISD2	OMIM:604928
HP:0030012	Abnormal female reproductive system physiology	3972	LHB	OMIM:228300
HP:0030012	Abnormal female reproductive system physiology	54476	RNF216	OMIM:212840
HP:0030012	Abnormal female reproductive system physiology	668	FOXL2	OMIM:110100
HP:0030012	Abnormal female reproductive system physiology	668	FOXL2	ORPHA:572333
HP:0030012	Abnormal female reproductive system physiology	668	FOXL2	OMIM:608996
HP:0030012	Abnormal female reproductive system physiology	355	FAS	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	356	FASLG	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	5580	PRKCD	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	843	CASP10	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	10125	RASGRP1	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	55213	RCBTB1	OMIM:617175
HP:0030012	Abnormal female reproductive system physiology	1730	DIAPH2	OMIM:300511
HP:0030012	Abnormal female reproductive system physiology	9210	BMP15	OMIM:300510
HP:0030012	Abnormal female reproductive system physiology	9210	BMP15	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	4683	NBN	OMIM:251260
HP:0030012	Abnormal female reproductive system physiology	9453	GGPS1	OMIM:619518
HP:0030012	Abnormal female reproductive system physiology	84515	MCM8	OMIM:612885
HP:0030012	Abnormal female reproductive system physiology	2592	GALT	OMIM:230400
HP:0030012	Abnormal female reproductive system physiology	2592	GALT	ORPHA:79239
HP:0030012	Abnormal female reproductive system physiology	2516	NR5A1	OMIM:612964
HP:0030012	Abnormal female reproductive system physiology	2516	NR5A1	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	125150	ZSWIM7	OMIM:619834
HP:0030012	Abnormal female reproductive system physiology	125150	ZSWIM7	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	64682	ANAPC1	OMIM:618625
HP:0030012	Abnormal female reproductive system physiology	64682	ANAPC1	ORPHA:221008
HP:0030012	Abnormal female reproductive system physiology	80067	DCAF17	ORPHA:3464
HP:0030012	Abnormal female reproductive system physiology	80067	DCAF17	OMIM:241080
HP:0030012	Abnormal female reproductive system physiology	84570	COL25A1	ORPHA:91411
HP:0030012	Abnormal female reproductive system physiology	79776	ZFHX4	ORPHA:91411
HP:0030012	Abnormal female reproductive system physiology	79228	THOC6	ORPHA:363444
HP:0030012	Abnormal female reproductive system physiology	79228	THOC6	OMIM:613680
HP:0030012	Abnormal female reproductive system physiology	11077	HSF2BP	OMIM:619245
HP:0030012	Abnormal female reproductive system physiology	54453	RIN2	ORPHA:217335
HP:0030012	Abnormal female reproductive system physiology	317761	C14orf39	OMIM:619203
HP:0030012	Abnormal female reproductive system physiology	79983	POF1B	OMIM:300604
HP:0030012	Abnormal female reproductive system physiology	2332	FMR1	OMIM:311360
HP:0030012	Abnormal female reproductive system physiology	2332	FMR1	ORPHA:261483
HP:0030012	Abnormal female reproductive system physiology	2332	FMR1	OMIM:300623
HP:0030012	Abnormal female reproductive system physiology	57505	AARS2	OMIM:615889
HP:0030012	Abnormal female reproductive system physiology	164045	HFM1	OMIM:615724
HP:0030012	Abnormal female reproductive system physiology	10734	STAG3	OMIM:615723
HP:0030012	Abnormal female reproductive system physiology	11261	CHP1	OMIM:618438
HP:0030012	Abnormal female reproductive system physiology	8888	MCM3AP	OMIM:618124
HP:0030012	Abnormal female reproductive system physiology	326	AIRE	OMIM:240300
HP:0030012	Abnormal female reproductive system physiology	51434	ANAPC7	OMIM:619699
HP:0030012	Abnormal female reproductive system physiology	646	BNC1	OMIM:618723
HP:0030012	Abnormal female reproductive system physiology	646	BNC1	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	2072	ERCC4	OMIM:610965
HP:0030012	Abnormal female reproductive system physiology	55750	AGK	OMIM:212350
HP:0030012	Abnormal female reproductive system physiology	56652	TWNK	OMIM:609286
HP:0030012	Abnormal female reproductive system physiology	1967	EIF2B1	OMIM:603896
HP:0030012	Abnormal female reproductive system physiology	29893	PSMC3IP	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	171568	POLR3H	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	57122	NUP107	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	23514	SPIDR	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	23514	SPIDR	OMIM:619665
HP:0030012	Abnormal female reproductive system physiology	2492	FSHR	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	56945	MRPS22	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	641	BLM	ORPHA:125
HP:0030012	Abnormal female reproductive system physiology	2583	B4GALNT1	ORPHA:101006
HP:0030012	Abnormal female reproductive system physiology	5428	POLG	OMIM:157640
HP:0030012	Abnormal female reproductive system physiology	7516	XRCC2	OMIM:619146
HP:0030012	Abnormal female reproductive system physiology	26284	ERAL1	OMIM:617565
HP:0030012	Abnormal female reproductive system physiology	23395	LARS2	OMIM:615300
HP:0030012	Abnormal female reproductive system physiology	344018	FIGLA	OMIM:612310
HP:0030012	Abnormal female reproductive system physiology	11232	POLG2	OMIM:619425
HP:0030012	Abnormal female reproductive system physiology	4000	LMNA	ORPHA:79474
HP:0030012	Abnormal female reproductive system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	9657	IQCB1	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	10806	SDCCAG8	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	27130	INVS	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	80184	CEP290	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	4867	NPHP1	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	261734	NPHP4	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	57728	WDR19	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	27031	NPHP3	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	22897	CEP164	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	135935	NOBOX	OMIM:611548
HP:0030012	Abnormal female reproductive system physiology	5373	PMM2	OMIM:212065
HP:0030012	Abnormal female reproductive system physiology	2584	GALK1	ORPHA:79237
HP:0030012	Abnormal female reproductive system physiology	80185	TTI2	ORPHA:391307
HP:0030012	Abnormal female reproductive system physiology	10273	STUB1	ORPHA:412057
HP:0030012	Abnormal female reproductive system physiology	5192	PEX10	OMIM:614871
HP:0030012	Abnormal female reproductive system physiology	10269	ZMPSTE24	ORPHA:740
HP:0030012	Abnormal female reproductive system physiology	10165	SLC25A13	ORPHA:247585
HP:0030012	Abnormal female reproductive system physiology	7840	ALMS1	ORPHA:64
HP:0030012	Abnormal female reproductive system physiology	10059	DNM1L	ORPHA:330050
HP:0030012	Abnormal female reproductive system physiology	2690	GHR	OMIM:262500
HP:0030012	Abnormal female reproductive system physiology	5781	PTPN11	OMIM:151100
HP:0030012	Abnormal female reproductive system physiology	6253	RTN2	ORPHA:100993
HP:0030012	Abnormal female reproductive system physiology	51271	UBAP1	ORPHA:100993
HP:0030012	Abnormal female reproductive system physiology	54832	VPS13C	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	11315	PARK7	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	7345	UCHL1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	27429	HTRA2	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	120892	LRRK2	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	9829	DNAJC6	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	6622	SNCA	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	5420	PODXL	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	65018	PINK1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	8867	SYNJ1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	5071	PRKN	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	215	ABCD1	ORPHA:139399
HP:0030012	Abnormal female reproductive system physiology	27235	COQ2	ORPHA:227510
HP:0030012	Abnormal female reproductive system physiology	27235	COQ2	ORPHA:98933
HP:0030012	Abnormal female reproductive system physiology	2535	FZD2	OMIM:164745
HP:0030012	Abnormal female reproductive system physiology	3106	HLA-B	ORPHA:36426
HP:0030012	Abnormal female reproductive system physiology	10320	IKZF1	ORPHA:36426
HP:0030012	Abnormal female reproductive system physiology	84818	IL17RC	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	64581	CLEC7A	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	23765	IL17RA	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	112744	IL17F	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	1235	CCR6	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	1490	CCN2	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	3663	IRF5	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	857	CAV1	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	2260	FGFR1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	10371	SEMA3A	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	81848	SPRY4	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	23767	FLRT3	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	128674	PROKR2	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	79625	NDNF	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	2253	FGF8	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	389549	FEZF1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	1630	DCC	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	3730	ANOS1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	54756	IL17RD	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	6663	SOX10	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	285025	CCDC141	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	60675	PROK2	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	55636	CHD7	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	1848	DUSP6	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	6870	TACR3	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	55717	WDR11	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	9394	HS6ST1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	8820	HESX1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	8822	FGF17	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	2488	FSHB	ORPHA:52901
HP:0030012	Abnormal female reproductive system physiology	64072	CDH23	ORPHA:91347
HP:0030012	Abnormal female reproductive system physiology	64072	CDH23	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	4221	MEN1	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	9049	AIP	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	26012	NSMF	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	2796	GNRH1	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	2798	GNRHR	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	84634	KISS1R	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	6866	TAC3	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	3814	KISS1	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	1528	CYB5A	ORPHA:90796
HP:0030012	Abnormal female reproductive system physiology	3481	IGF2	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	1028	CDKN1C	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	5324	PLAG1	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	8091	HMGA2	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	83550	GPR101	ORPHA:963
HP:0030012	Abnormal female reproductive system physiology	6774	STAT3	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	5371	PML	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	5914	RARA	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	359948	IRF2BP2	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	81608	FIP1L1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	4869	NPM1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	54880	BCOR	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	64859	NABP1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	6777	STAT5B	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	4926	NUMA1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	7704	ZBTB16	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	79718	TBL1XR1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	11234	HPS5	OMIM:614074
HP:0030012	Abnormal female reproductive system physiology	2313	FLI1	ORPHA:370348
HP:0030012	Abnormal female reproductive system physiology	2153	F5	ORPHA:326
HP:0030012	Abnormal female reproductive system physiology	2243	FGA	ORPHA:98880
HP:0030012	Abnormal female reproductive system physiology	2244	FGB	ORPHA:98880
HP:0030012	Abnormal female reproductive system physiology	2266	FGG	ORPHA:98880
HP:0030012	Abnormal female reproductive system physiology	3674	ITGA2B	ORPHA:849
HP:0030012	Abnormal female reproductive system physiology	3690	ITGB3	ORPHA:849
HP:0030127	Endometriosis	79228	THOC6	ORPHA:363444
HP:0030127	Endometriosis	79228	THOC6	OMIM:613680
HP:0030014	Female sexual dysfunction	6253	RTN2	ORPHA:100993
HP:0030014	Female sexual dysfunction	51271	UBAP1	ORPHA:100993
HP:0030014	Female sexual dysfunction	54832	VPS13C	ORPHA:2828
HP:0030014	Female sexual dysfunction	11315	PARK7	ORPHA:2828
HP:0030014	Female sexual dysfunction	7345	UCHL1	ORPHA:2828
HP:0030014	Female sexual dysfunction	27429	HTRA2	ORPHA:2828
HP:0030014	Female sexual dysfunction	120892	LRRK2	ORPHA:2828
HP:0030014	Female sexual dysfunction	9829	DNAJC6	ORPHA:2828
HP:0030014	Female sexual dysfunction	6622	SNCA	ORPHA:2828
HP:0030014	Female sexual dysfunction	5420	PODXL	ORPHA:2828
HP:0030014	Female sexual dysfunction	65018	PINK1	ORPHA:2828
HP:0030014	Female sexual dysfunction	8867	SYNJ1	ORPHA:2828
HP:0030014	Female sexual dysfunction	5071	PRKN	ORPHA:2828
HP:0030014	Female sexual dysfunction	215	ABCD1	ORPHA:139399
HP:0030014	Female sexual dysfunction	27235	COQ2	ORPHA:227510
HP:0030014	Female sexual dysfunction	27235	COQ2	ORPHA:98933
HP:0030014	Female sexual dysfunction	2535	FZD2	OMIM:164745
HP:0030014	Female sexual dysfunction	3106	HLA-B	ORPHA:36426
HP:0030014	Female sexual dysfunction	10320	IKZF1	ORPHA:36426
HP:0030014	Female sexual dysfunction	84818	IL17RC	ORPHA:1334
HP:0030014	Female sexual dysfunction	64581	CLEC7A	ORPHA:1334
HP:0030014	Female sexual dysfunction	23765	IL17RA	ORPHA:1334
HP:0030014	Female sexual dysfunction	10758	TRAF3IP2	ORPHA:1334
HP:0030014	Female sexual dysfunction	112744	IL17F	ORPHA:1334
HP:0030014	Female sexual dysfunction	1235	CCR6	ORPHA:220393
HP:0030014	Female sexual dysfunction	1490	CCN2	ORPHA:220393
HP:0030014	Female sexual dysfunction	3663	IRF5	ORPHA:220393
HP:0030014	Female sexual dysfunction	857	CAV1	ORPHA:220393
HP:0030014	Female sexual dysfunction	3123	HLA-DRB1	ORPHA:220393
HP:0030014	Female sexual dysfunction	2260	FGFR1	ORPHA:478
HP:0030014	Female sexual dysfunction	10371	SEMA3A	ORPHA:478
HP:0030014	Female sexual dysfunction	81848	SPRY4	ORPHA:478
HP:0030014	Female sexual dysfunction	23767	FLRT3	ORPHA:478
HP:0030014	Female sexual dysfunction	128674	PROKR2	ORPHA:478
HP:0030014	Female sexual dysfunction	79625	NDNF	ORPHA:478
HP:0030014	Female sexual dysfunction	2253	FGF8	ORPHA:478
HP:0030014	Female sexual dysfunction	389549	FEZF1	ORPHA:478
HP:0030014	Female sexual dysfunction	1630	DCC	ORPHA:478
HP:0030014	Female sexual dysfunction	3730	ANOS1	ORPHA:478
HP:0030014	Female sexual dysfunction	54756	IL17RD	ORPHA:478
HP:0030014	Female sexual dysfunction	6663	SOX10	ORPHA:478
HP:0030014	Female sexual dysfunction	285025	CCDC141	ORPHA:478
HP:0030014	Female sexual dysfunction	60675	PROK2	ORPHA:478
HP:0030014	Female sexual dysfunction	55636	CHD7	ORPHA:478
HP:0030014	Female sexual dysfunction	1848	DUSP6	ORPHA:478
HP:0030014	Female sexual dysfunction	6870	TACR3	ORPHA:478
HP:0030014	Female sexual dysfunction	55717	WDR11	ORPHA:478
HP:0030014	Female sexual dysfunction	9394	HS6ST1	ORPHA:478
HP:0030014	Female sexual dysfunction	8820	HESX1	ORPHA:478
HP:0030014	Female sexual dysfunction	8822	FGF17	ORPHA:478
HP:0030014	Female sexual dysfunction	2488	FSHB	ORPHA:52901
HP:0030014	Female sexual dysfunction	64072	CDH23	ORPHA:91347
HP:0030014	Female sexual dysfunction	64072	CDH23	ORPHA:2965
HP:0030014	Female sexual dysfunction	4221	MEN1	ORPHA:2965
HP:0030014	Female sexual dysfunction	9049	AIP	ORPHA:2965
HP:0030014	Female sexual dysfunction	26012	NSMF	ORPHA:432
HP:0030014	Female sexual dysfunction	2796	GNRH1	ORPHA:432
HP:0030014	Female sexual dysfunction	2798	GNRHR	ORPHA:432
HP:0030014	Female sexual dysfunction	84634	KISS1R	ORPHA:432
HP:0030014	Female sexual dysfunction	6866	TAC3	ORPHA:432
HP:0030014	Female sexual dysfunction	3814	KISS1	ORPHA:432
HP:0030015	Female anorgasmia	27235	COQ2	ORPHA:227510
HP:0030015	Female anorgasmia	27235	COQ2	ORPHA:98933
HP:0030016	Dyspareunia	2535	FZD2	OMIM:164745
HP:0030016	Dyspareunia	3106	HLA-B	ORPHA:36426
HP:0030016	Dyspareunia	10320	IKZF1	ORPHA:36426
HP:0030016	Dyspareunia	84818	IL17RC	ORPHA:1334
HP:0030016	Dyspareunia	64581	CLEC7A	ORPHA:1334
HP:0030016	Dyspareunia	23765	IL17RA	ORPHA:1334
HP:0030016	Dyspareunia	10758	TRAF3IP2	ORPHA:1334
HP:0030016	Dyspareunia	112744	IL17F	ORPHA:1334
HP:0030016	Dyspareunia	4221	MEN1	ORPHA:2965
HP:0030016	Dyspareunia	64072	CDH23	ORPHA:2965
HP:0030016	Dyspareunia	9049	AIP	ORPHA:2965
HP:0030016	Dyspareunia	1235	CCR6	ORPHA:220393
HP:0030016	Dyspareunia	1490	CCN2	ORPHA:220393
HP:0030016	Dyspareunia	3663	IRF5	ORPHA:220393
HP:0030016	Dyspareunia	857	CAV1	ORPHA:220393
HP:0030016	Dyspareunia	3123	HLA-DRB1	ORPHA:220393
HP:0030016	Dyspareunia	2260	FGFR1	ORPHA:478
HP:0030016	Dyspareunia	10371	SEMA3A	ORPHA:478
HP:0030016	Dyspareunia	81848	SPRY4	ORPHA:478
HP:0030016	Dyspareunia	23767	FLRT3	ORPHA:478
HP:0030016	Dyspareunia	128674	PROKR2	ORPHA:478
HP:0030016	Dyspareunia	79625	NDNF	ORPHA:478
HP:0030016	Dyspareunia	2253	FGF8	ORPHA:478
HP:0030016	Dyspareunia	389549	FEZF1	ORPHA:478
HP:0030016	Dyspareunia	1630	DCC	ORPHA:478
HP:0030016	Dyspareunia	3730	ANOS1	ORPHA:478
HP:0030016	Dyspareunia	54756	IL17RD	ORPHA:478
HP:0030016	Dyspareunia	6663	SOX10	ORPHA:478
HP:0030016	Dyspareunia	285025	CCDC141	ORPHA:478
HP:0030016	Dyspareunia	60675	PROK2	ORPHA:478
HP:0030016	Dyspareunia	55636	CHD7	ORPHA:478
HP:0030016	Dyspareunia	1848	DUSP6	ORPHA:478
HP:0030016	Dyspareunia	6870	TACR3	ORPHA:478
HP:0030016	Dyspareunia	55717	WDR11	ORPHA:478
HP:0030016	Dyspareunia	9394	HS6ST1	ORPHA:478
HP:0030016	Dyspareunia	8820	HESX1	ORPHA:478
HP:0030016	Dyspareunia	8822	FGF17	ORPHA:478
HP:0030018	Decreased female libido	2488	FSHB	ORPHA:52901
HP:0030018	Decreased female libido	64072	CDH23	ORPHA:91347
HP:0030018	Decreased female libido	64072	CDH23	ORPHA:2965
HP:0030018	Decreased female libido	4221	MEN1	ORPHA:2965
HP:0030018	Decreased female libido	9049	AIP	ORPHA:2965
HP:0040230	Decreased level of tissue plasminogen activator	5054	SERPINE1	ORPHA:465
HP:0040231	Abnormal onset of bleeding	2165	F13B	ORPHA:331
HP:0040231	Abnormal onset of bleeding	2162	F13A1	ORPHA:331
HP:0040232	Delayed onset bleeding	2165	F13B	ORPHA:331
HP:0040232	Delayed onset bleeding	2162	F13A1	ORPHA:331
HP:0040233	Factor XIII subunit A deficiency	2162	F13A1	OMIM:613225
HP:0040234	Factor XIII subunit B deficiency	2165	F13B	OMIM:613235
HP:0040235	Leukocyte inclusion bodies	4627	MYH9	OMIM:155100
HP:0040238	Impaired neutrophil chemotaxis	5373	PMM2	ORPHA:79318
HP:0040238	Impaired neutrophil chemotaxis	5880	RAC2	OMIM:618986
HP:0040238	Impaired neutrophil chemotaxis	5880	RAC2	OMIM:608203
HP:0040238	Impaired neutrophil chemotaxis	1053	CEBPE	OMIM:260570
HP:0040238	Impaired neutrophil chemotaxis	3937	LCP2	OMIM:619374
HP:0040238	Impaired neutrophil chemotaxis	134218	DNAJC21	ORPHA:811
HP:0040238	Impaired neutrophil chemotaxis	79631	EFL1	ORPHA:811
HP:0040238	Impaired neutrophil chemotaxis	51119	SBDS	ORPHA:811
HP:0040238	Impaired neutrophil chemotaxis	6729	SRP54	ORPHA:811
HP:0030019	Increased female libido	2260	FGFR1	ORPHA:432
HP:0030019	Increased female libido	81848	SPRY4	ORPHA:432
HP:0030019	Increased female libido	128674	PROKR2	ORPHA:432
HP:0030019	Increased female libido	2253	FGF8	ORPHA:432
HP:0030019	Increased female libido	60675	PROK2	ORPHA:432
HP:0030019	Increased female libido	55636	CHD7	ORPHA:432
HP:0030019	Increased female libido	6870	TACR3	ORPHA:432
HP:0030019	Increased female libido	1848	DUSP6	ORPHA:432
HP:0030019	Increased female libido	26012	NSMF	ORPHA:432
HP:0030019	Increased female libido	55717	WDR11	ORPHA:432
HP:0030019	Increased female libido	9394	HS6ST1	ORPHA:432
HP:0030019	Increased female libido	2796	GNRH1	ORPHA:432
HP:0030019	Increased female libido	2798	GNRHR	ORPHA:432
HP:0030019	Increased female libido	84634	KISS1R	ORPHA:432
HP:0030019	Increased female libido	6866	TAC3	ORPHA:432
HP:0030019	Increased female libido	8822	FGF17	ORPHA:432
HP:0030019	Increased female libido	3814	KISS1	ORPHA:432
HP:0030021	Auricular tag	2737	GLI3	ORPHA:672
HP:0030022	Question mark ear	1906	EDN1	OMIM:612798
HP:0030022	Question mark ear	1906	EDN1	ORPHA:137888
HP:0030022	Question mark ear	1906	EDN1	OMIM:615706
HP:0030022	Question mark ear	5332	PLCB4	ORPHA:137888
HP:0030022	Question mark ear	2773	GNAI3	ORPHA:137888
HP:0030025	Auricular pit	10584	COLEC10	OMIM:248340
HP:0030026	Squared superior portion of helix	4131	MAP1B	OMIM:618918
HP:0040242	Muscle hemorrhage	2157	F8	OMIM:306700
HP:0040245	Reduced alpha-2-antiplasmin activity	5054	SERPINE1	ORPHA:465
HP:0040246	Reduced antithrombin antigen	4351	MPI	ORPHA:79319
HP:0040246	Reduced antithrombin antigen	462	SERPINC1	ORPHA:82
HP:0040246	Reduced antithrombin antigen	29929	ALG6	ORPHA:79320
HP:0040246	Reduced antithrombin antigen	79087	ALG12	ORPHA:79324
HP:0040247	Reduced euglobulin clot lysis time	5345	SERPINF2	ORPHA:79
HP:0040248	Reduced plasminogen activator inhibitor 1 activity	5054	SERPINE1	ORPHA:465
HP:0040249	Reduced plasminogen activator inhibitor 1 antigen	5054	SERPINE1	ORPHA:465
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0004180	Short distal phalanx of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0004180	Short distal phalanx of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0030032	Partial absence of foot	2737	GLI3	ORPHA:93322
HP:0030036	Isothenuria	6521	SLC4A1	OMIM:611590
HP:0030037	Bifid ureter	80781	COL18A1	OMIM:267750
HP:0030037	Bifid ureter	80781	COL18A1	ORPHA:1571
HP:0030037	Bifid ureter	9158	FIBP	OMIM:617107
HP:0030037	Bifid ureter	9158	FIBP	ORPHA:500095
HP:0030037	Bifid ureter	64840	PORCN	OMIM:305600
HP:0030037	Bifid ureter	5062	PAK2	ORPHA:1571
HP:0030037	Bifid ureter	5087	PBX1	OMIM:617641
HP:0030038	Enchondroma	5781	PTPN11	OMIM:156250
HP:0030038	Enchondroma	5781	PTPN11	ORPHA:2499
HP:0030038	Enchondroma	1280	COL2A1	ORPHA:85198
HP:0030038	Enchondroma	84172	POLR1B	ORPHA:861
HP:0030038	Enchondroma	9533	POLR1C	ORPHA:861
HP:0030038	Enchondroma	51082	POLR1D	ORPHA:861
HP:0030038	Enchondroma	6949	TCOF1	ORPHA:861
HP:0030038	Enchondroma	3418	IDH2	ORPHA:163634
HP:0030038	Enchondroma	3418	IDH2	ORPHA:296
HP:0030038	Enchondroma	3417	IDH1	ORPHA:163634
HP:0030038	Enchondroma	3417	IDH1	ORPHA:296
HP:0030038	Enchondroma	3417	IDH1	ORPHA:99646
HP:0030038	Enchondroma	5745	PTH1R	ORPHA:296
HP:0030038	Enchondroma	10535	RNASEH2A	ORPHA:51
HP:0030038	Enchondroma	84153	RNASEH2C	ORPHA:51
HP:0030038	Enchondroma	25939	SAMHD1	ORPHA:51
HP:0030038	Enchondroma	79621	RNASEH2B	ORPHA:51
HP:0030038	Enchondroma	103	ADAR	ORPHA:51
HP:0030038	Enchondroma	11277	TREX1	ORPHA:51
HP:0030038	Enchondroma	100147744	RNU7-1	ORPHA:51
HP:0030038	Enchondroma	134353	LSM11	ORPHA:51
HP:0030038	Enchondroma	64135	IFIH1	ORPHA:51
HP:0030038	Enchondroma	54	ACP5	ORPHA:1855
HP:0030038	Enchondroma	5573	PRKAR1A	ORPHA:1359
HP:0030038	Enchondroma	50940	PDE11A	ORPHA:1359
HP:0004188	Abnormal 4th finger morphology	23291	FBXW11	OMIM:618914
HP:0004188	Abnormal 4th finger morphology	25942	SIN3A	OMIM:613406
HP:0004188	Abnormal 4th finger morphology	10765	KDM5B	OMIM:618109
HP:0004188	Abnormal 4th finger morphology	11011	TLK2	OMIM:618050
HP:0004188	Abnormal 4th finger morphology	6909	TBX2	OMIM:618223
HP:0004188	Abnormal 4th finger morphology	80816	ASXL3	OMIM:615485
HP:0004188	Abnormal 4th finger morphology	3549	IHH	OMIM:112500
HP:0004188	Abnormal 4th finger morphology	6926	TBX3	OMIM:181450
HP:0004188	Abnormal 4th finger morphology	1280	COL2A1	OMIM:271700
HP:0004188	Abnormal 4th finger morphology	9241	NOG	OMIM:186500
HP:0004188	Abnormal 4th finger morphology	8200	GDF5	OMIM:615072
HP:0004188	Abnormal 4th finger morphology	2122	MECOM	OMIM:616738
HP:0004188	Abnormal 4th finger morphology	2737	GLI3	ORPHA:672
HP:0004188	Abnormal 4th finger morphology	1301	COL11A1	OMIM:154780
HP:0004188	Abnormal 4th finger morphology	6638	SNRPN	ORPHA:177907
HP:0004188	Abnormal 4th finger morphology	3767	KCNJ11	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	79731	NARS2	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	6833	ABCC8	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004188	Abnormal 4th finger morphology	90417	KNSTRN	ORPHA:221139
HP:0040252	Abnormal size of the clitoris	3643	INSR	OMIM:262190
HP:0040252	Abnormal size of the clitoris	3643	INSR	ORPHA:508
HP:0040252	Abnormal size of the clitoris	3643	INSR	OMIM:246200
HP:0040252	Abnormal size of the clitoris	3643	INSR	ORPHA:769
HP:0040252	Abnormal size of the clitoris	1349	COX7B	OMIM:309801
HP:0040252	Abnormal size of the clitoris	1349	COX7B	ORPHA:2556
HP:0040252	Abnormal size of the clitoris	3052	HCCS	OMIM:309801
HP:0040252	Abnormal size of the clitoris	3052	HCCS	ORPHA:2556
HP:0040252	Abnormal size of the clitoris	54539	NDUFB11	OMIM:309801
HP:0040252	Abnormal size of the clitoris	54539	NDUFB11	ORPHA:2556
HP:0040252	Abnormal size of the clitoris	26580	BSCL2	OMIM:269700
HP:0040252	Abnormal size of the clitoris	26580	BSCL2	ORPHA:528
HP:0040252	Abnormal size of the clitoris	471	ATIC	ORPHA:250977
HP:0040252	Abnormal size of the clitoris	471	ATIC	OMIM:608688
HP:0040252	Abnormal size of the clitoris	92002	CCNQ	OMIM:300707
HP:0040252	Abnormal size of the clitoris	92002	CCNQ	ORPHA:140952
HP:0040252	Abnormal size of the clitoris	4659	PPP1R12A	OMIM:618820
HP:0040252	Abnormal size of the clitoris	5828	PEX2	OMIM:614866
HP:0040252	Abnormal size of the clitoris	5828	PEX2	ORPHA:912
HP:0040252	Abnormal size of the clitoris	81857	MED25	OMIM:616449
HP:0040252	Abnormal size of the clitoris	2516	NR5A1	OMIM:612964
HP:0040252	Abnormal size of the clitoris	2516	NR5A1	OMIM:612965
HP:0040252	Abnormal size of the clitoris	2516	NR5A1	OMIM:617480
HP:0040252	Abnormal size of the clitoris	2516	NR5A1	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	5830	PEX5	OMIM:214110
HP:0040252	Abnormal size of the clitoris	5830	PEX5	ORPHA:912
HP:0040252	Abnormal size of the clitoris	157570	ESCO2	ORPHA:3103
HP:0040252	Abnormal size of the clitoris	157570	ESCO2	OMIM:268300
HP:0040252	Abnormal size of the clitoris	80144	FRAS1	OMIM:219000
HP:0040252	Abnormal size of the clitoris	6736	SRY	OMIM:400045
HP:0040252	Abnormal size of the clitoris	6736	SRY	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	197131	UBR1	OMIM:243800
HP:0040252	Abnormal size of the clitoris	2571	GAD1	OMIM:619124
HP:0040252	Abnormal size of the clitoris	8318	CDC45	OMIM:617063
HP:0040252	Abnormal size of the clitoris	8318	CDC45	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	89910	UBE3B	OMIM:244450
HP:0040252	Abnormal size of the clitoris	89910	UBE3B	ORPHA:2707
HP:0040252	Abnormal size of the clitoris	2232	FDXR	ORPHA:543470
HP:0040252	Abnormal size of the clitoris	1584	CYP11B1	OMIM:202010
HP:0040252	Abnormal size of the clitoris	1584	CYP11B1	ORPHA:90795
HP:0040252	Abnormal size of the clitoris	23522	KAT6B	ORPHA:85201
HP:0040252	Abnormal size of the clitoris	23522	KAT6B	OMIM:606170
HP:0040252	Abnormal size of the clitoris	2263	FGFR2	OMIM:614592
HP:0040252	Abnormal size of the clitoris	2263	FGFR2	ORPHA:313855
HP:0040252	Abnormal size of the clitoris	10293	TRAIP	OMIM:616777
HP:0040252	Abnormal size of the clitoris	367	AR	ORPHA:90797
HP:0040252	Abnormal size of the clitoris	1717	DHCR7	ORPHA:818
HP:0040252	Abnormal size of the clitoris	22995	CEP152	OMIM:613823
HP:0040252	Abnormal size of the clitoris	10225	CD96	OMIM:211750
HP:0040252	Abnormal size of the clitoris	3284	HSD3B2	ORPHA:90791
HP:0040252	Abnormal size of the clitoris	5189	PEX1	OMIM:214100
HP:0040252	Abnormal size of the clitoris	5189	PEX1	ORPHA:912
HP:0040252	Abnormal size of the clitoris	57492	ARID1B	OMIM:135900
HP:0040252	Abnormal size of the clitoris	4998	ORC1	OMIM:224690
HP:0040252	Abnormal size of the clitoris	4998	ORC1	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	1583	CYP11A1	ORPHA:168558
HP:0040252	Abnormal size of the clitoris	1583	CYP11A1	ORPHA:289548
HP:0040252	Abnormal size of the clitoris	284654	RSPO1	OMIM:610644
HP:0040252	Abnormal size of the clitoris	5468	PPARG	ORPHA:528
HP:0040252	Abnormal size of the clitoris	10555	AGPAT2	ORPHA:528
HP:0040252	Abnormal size of the clitoris	10555	AGPAT2	OMIM:608594
HP:0040252	Abnormal size of the clitoris	284119	CAVIN1	ORPHA:528
HP:0040252	Abnormal size of the clitoris	2353	FOS	ORPHA:528
HP:0040252	Abnormal size of the clitoris	857	CAV1	ORPHA:528
HP:0040252	Abnormal size of the clitoris	81620	CDT1	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	5000	ORC4	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	5000	ORC4	OMIM:613800
HP:0040252	Abnormal size of the clitoris	23594	ORC6	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	23594	ORC6	OMIM:613803
HP:0040252	Abnormal size of the clitoris	990	CDC6	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	51053	GMNN	ORPHA:2554
HP:0040252	Abnormal size of the clitoris	114034	TOE1	ORPHA:284339
HP:0040252	Abnormal size of the clitoris	9562	MINPP1	ORPHA:284339
HP:0040252	Abnormal size of the clitoris	9896	FIG4	ORPHA:3472
HP:0040252	Abnormal size of the clitoris	55697	VAC14	ORPHA:3472
HP:0040252	Abnormal size of the clitoris	545	ATR	OMIM:210600
HP:0040252	Abnormal size of the clitoris	4214	MAP3K1	OMIM:613762
HP:0040252	Abnormal size of the clitoris	4214	MAP3K1	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	6662	SOX9	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	6845	VAMP7	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	51741	WWOX	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	7490	WT1	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	58524	DMRT3	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	57647	DHX37	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	23414	ZFPM2	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	190	NR0B1	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	2626	GATA4	ORPHA:251510
HP:0040252	Abnormal size of the clitoris	55670	PEX26	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5824	PEX19	ORPHA:912
HP:0040252	Abnormal size of the clitoris	8504	PEX3	ORPHA:912
HP:0040252	Abnormal size of the clitoris	8799	PEX11B	ORPHA:912
HP:0040252	Abnormal size of the clitoris	9409	PEX16	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5190	PEX6	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5193	PEX12	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5194	PEX13	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5195	PEX14	ORPHA:912
HP:0040252	Abnormal size of the clitoris	5192	PEX10	ORPHA:912
HP:0040252	Abnormal size of the clitoris	6888	TALDO1	OMIM:606003
HP:0040252	Abnormal size of the clitoris	5447	POR	ORPHA:95699
HP:0040253	Increased size of the clitoris	3643	INSR	OMIM:262190
HP:0040253	Increased size of the clitoris	3643	INSR	ORPHA:508
HP:0040253	Increased size of the clitoris	3643	INSR	OMIM:246200
HP:0040253	Increased size of the clitoris	3643	INSR	ORPHA:769
HP:0040253	Increased size of the clitoris	1349	COX7B	OMIM:309801
HP:0040253	Increased size of the clitoris	1349	COX7B	ORPHA:2556
HP:0040253	Increased size of the clitoris	3052	HCCS	OMIM:309801
HP:0040253	Increased size of the clitoris	3052	HCCS	ORPHA:2556
HP:0040253	Increased size of the clitoris	54539	NDUFB11	OMIM:309801
HP:0040253	Increased size of the clitoris	54539	NDUFB11	ORPHA:2556
HP:0040253	Increased size of the clitoris	26580	BSCL2	OMIM:269700
HP:0040253	Increased size of the clitoris	26580	BSCL2	ORPHA:528
HP:0040253	Increased size of the clitoris	471	ATIC	ORPHA:250977
HP:0040253	Increased size of the clitoris	471	ATIC	OMIM:608688
HP:0040253	Increased size of the clitoris	92002	CCNQ	OMIM:300707
HP:0040253	Increased size of the clitoris	92002	CCNQ	ORPHA:140952
HP:0040253	Increased size of the clitoris	4659	PPP1R12A	OMIM:618820
HP:0040253	Increased size of the clitoris	5828	PEX2	OMIM:614866
HP:0040253	Increased size of the clitoris	5828	PEX2	ORPHA:912
HP:0040253	Increased size of the clitoris	81857	MED25	OMIM:616449
HP:0040253	Increased size of the clitoris	2516	NR5A1	OMIM:612964
HP:0040253	Increased size of the clitoris	2516	NR5A1	OMIM:612965
HP:0040253	Increased size of the clitoris	2516	NR5A1	OMIM:617480
HP:0040253	Increased size of the clitoris	2516	NR5A1	ORPHA:251510
HP:0040253	Increased size of the clitoris	5830	PEX5	OMIM:214110
HP:0040253	Increased size of the clitoris	5830	PEX5	ORPHA:912
HP:0040253	Increased size of the clitoris	157570	ESCO2	ORPHA:3103
HP:0040253	Increased size of the clitoris	157570	ESCO2	OMIM:268300
HP:0040253	Increased size of the clitoris	80144	FRAS1	OMIM:219000
HP:0040253	Increased size of the clitoris	6736	SRY	OMIM:400045
HP:0040253	Increased size of the clitoris	6736	SRY	ORPHA:251510
HP:0040253	Increased size of the clitoris	197131	UBR1	OMIM:243800
HP:0040253	Increased size of the clitoris	2571	GAD1	OMIM:619124
HP:0040253	Increased size of the clitoris	8318	CDC45	OMIM:617063
HP:0040253	Increased size of the clitoris	8318	CDC45	ORPHA:2554
HP:0040253	Increased size of the clitoris	89910	UBE3B	OMIM:244450
HP:0040253	Increased size of the clitoris	89910	UBE3B	ORPHA:2707
HP:0040253	Increased size of the clitoris	2232	FDXR	ORPHA:543470
HP:0040253	Increased size of the clitoris	1584	CYP11B1	OMIM:202010
HP:0040253	Increased size of the clitoris	1584	CYP11B1	ORPHA:90795
HP:0040253	Increased size of the clitoris	23522	KAT6B	ORPHA:85201
HP:0040253	Increased size of the clitoris	23522	KAT6B	OMIM:606170
HP:0040253	Increased size of the clitoris	2263	FGFR2	OMIM:614592
HP:0040253	Increased size of the clitoris	2263	FGFR2	ORPHA:313855
HP:0040253	Increased size of the clitoris	10293	TRAIP	OMIM:616777
HP:0040253	Increased size of the clitoris	367	AR	ORPHA:90797
HP:0040253	Increased size of the clitoris	1717	DHCR7	ORPHA:818
HP:0040253	Increased size of the clitoris	22995	CEP152	OMIM:613823
HP:0040253	Increased size of the clitoris	10225	CD96	OMIM:211750
HP:0040253	Increased size of the clitoris	3284	HSD3B2	ORPHA:90791
HP:0040253	Increased size of the clitoris	5189	PEX1	OMIM:214100
HP:0040253	Increased size of the clitoris	5189	PEX1	ORPHA:912
HP:0040253	Increased size of the clitoris	57492	ARID1B	OMIM:135900
HP:0040253	Increased size of the clitoris	4998	ORC1	OMIM:224690
HP:0040253	Increased size of the clitoris	4998	ORC1	ORPHA:2554
HP:0040253	Increased size of the clitoris	1583	CYP11A1	ORPHA:168558
HP:0040253	Increased size of the clitoris	1583	CYP11A1	ORPHA:289548
HP:0040253	Increased size of the clitoris	284654	RSPO1	OMIM:610644
HP:0040253	Increased size of the clitoris	5468	PPARG	ORPHA:528
HP:0040253	Increased size of the clitoris	10555	AGPAT2	ORPHA:528
HP:0040253	Increased size of the clitoris	10555	AGPAT2	OMIM:608594
HP:0040253	Increased size of the clitoris	284119	CAVIN1	ORPHA:528
HP:0040253	Increased size of the clitoris	2353	FOS	ORPHA:528
HP:0040253	Increased size of the clitoris	857	CAV1	ORPHA:528
HP:0040253	Increased size of the clitoris	81620	CDT1	ORPHA:2554
HP:0040253	Increased size of the clitoris	5000	ORC4	ORPHA:2554
HP:0040253	Increased size of the clitoris	5000	ORC4	OMIM:613800
HP:0040253	Increased size of the clitoris	23594	ORC6	ORPHA:2554
HP:0040253	Increased size of the clitoris	23594	ORC6	OMIM:613803
HP:0040253	Increased size of the clitoris	990	CDC6	ORPHA:2554
HP:0040253	Increased size of the clitoris	51053	GMNN	ORPHA:2554
HP:0040253	Increased size of the clitoris	114034	TOE1	ORPHA:284339
HP:0040253	Increased size of the clitoris	9562	MINPP1	ORPHA:284339
HP:0040253	Increased size of the clitoris	9896	FIG4	ORPHA:3472
HP:0040253	Increased size of the clitoris	55697	VAC14	ORPHA:3472
HP:0040253	Increased size of the clitoris	545	ATR	OMIM:210600
HP:0040253	Increased size of the clitoris	4214	MAP3K1	OMIM:613762
HP:0040253	Increased size of the clitoris	4214	MAP3K1	ORPHA:251510
HP:0040253	Increased size of the clitoris	6662	SOX9	ORPHA:251510
HP:0040253	Increased size of the clitoris	6845	VAMP7	ORPHA:251510
HP:0040253	Increased size of the clitoris	51741	WWOX	ORPHA:251510
HP:0040253	Increased size of the clitoris	7490	WT1	ORPHA:251510
HP:0040253	Increased size of the clitoris	58524	DMRT3	ORPHA:251510
HP:0040253	Increased size of the clitoris	57647	DHX37	ORPHA:251510
HP:0040253	Increased size of the clitoris	23414	ZFPM2	ORPHA:251510
HP:0040253	Increased size of the clitoris	190	NR0B1	ORPHA:251510
HP:0040253	Increased size of the clitoris	2626	GATA4	ORPHA:251510
HP:0040253	Increased size of the clitoris	55670	PEX26	ORPHA:912
HP:0040253	Increased size of the clitoris	5824	PEX19	ORPHA:912
HP:0040253	Increased size of the clitoris	8504	PEX3	ORPHA:912
HP:0040253	Increased size of the clitoris	8799	PEX11B	ORPHA:912
HP:0040253	Increased size of the clitoris	9409	PEX16	ORPHA:912
HP:0040253	Increased size of the clitoris	5190	PEX6	ORPHA:912
HP:0040253	Increased size of the clitoris	5193	PEX12	ORPHA:912
HP:0040253	Increased size of the clitoris	5194	PEX13	ORPHA:912
HP:0040253	Increased size of the clitoris	5195	PEX14	ORPHA:912
HP:0040253	Increased size of the clitoris	5192	PEX10	ORPHA:912
HP:0040253	Increased size of the clitoris	6888	TALDO1	OMIM:606003
HP:0040253	Increased size of the clitoris	5447	POR	ORPHA:95699
HP:0040255	Aplasia/Hypoplasia of the clitoris	2535	FZD2	OMIM:164745
HP:0040255	Aplasia/Hypoplasia of the clitoris	2535	FZD2	ORPHA:3107
HP:0040255	Aplasia/Hypoplasia of the clitoris	4920	ROR2	OMIM:268310
HP:0040255	Aplasia/Hypoplasia of the clitoris	64840	PORCN	OMIM:305600
HP:0040255	Aplasia/Hypoplasia of the clitoris	6638	SNRPN	ORPHA:177904
HP:0040255	Aplasia/Hypoplasia of the clitoris	6638	SNRPN	ORPHA:177901
HP:0040255	Aplasia/Hypoplasia of the clitoris	6638	SNRPN	ORPHA:98754
HP:0040255	Aplasia/Hypoplasia of the clitoris	4692	NDN	ORPHA:177904
HP:0040255	Aplasia/Hypoplasia of the clitoris	4692	NDN	ORPHA:177901
HP:0040255	Aplasia/Hypoplasia of the clitoris	4692	NDN	ORPHA:98754
HP:0040255	Aplasia/Hypoplasia of the clitoris	54551	MAGEL2	ORPHA:177904
HP:0040255	Aplasia/Hypoplasia of the clitoris	54551	MAGEL2	ORPHA:177901
HP:0040255	Aplasia/Hypoplasia of the clitoris	54551	MAGEL2	ORPHA:398069
HP:0040255	Aplasia/Hypoplasia of the clitoris	54551	MAGEL2	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	54551	MAGEL2	ORPHA:98754
HP:0040255	Aplasia/Hypoplasia of the clitoris	4948	OCA2	ORPHA:177904
HP:0040255	Aplasia/Hypoplasia of the clitoris	4948	OCA2	ORPHA:177901
HP:0040255	Aplasia/Hypoplasia of the clitoris	4948	OCA2	ORPHA:98754
HP:0040255	Aplasia/Hypoplasia of the clitoris	1857	DVL3	OMIM:616894
HP:0040255	Aplasia/Hypoplasia of the clitoris	1857	DVL3	ORPHA:3107
HP:0040255	Aplasia/Hypoplasia of the clitoris	145173	B3GLCT	OMIM:261540
HP:0040255	Aplasia/Hypoplasia of the clitoris	145173	B3GLCT	ORPHA:709
HP:0040255	Aplasia/Hypoplasia of the clitoris	7474	WNT5A	ORPHA:3107
HP:0040255	Aplasia/Hypoplasia of the clitoris	7474	WNT5A	OMIM:180700
HP:0040255	Aplasia/Hypoplasia of the clitoris	1855	DVL1	ORPHA:3107
HP:0040255	Aplasia/Hypoplasia of the clitoris	1855	DVL1	OMIM:180700
HP:0040255	Aplasia/Hypoplasia of the clitoris	55012	PPP2R3C	OMIM:618419
HP:0040255	Aplasia/Hypoplasia of the clitoris	6492	SIM1	ORPHA:398079
HP:0040255	Aplasia/Hypoplasia of the clitoris	25886	POC1A	OMIM:614813
HP:0040255	Aplasia/Hypoplasia of the clitoris	81620	CDT1	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	5000	ORC4	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	23594	ORC6	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	8318	CDC45	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	990	CDC6	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	4998	ORC1	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	51053	GMNN	ORPHA:2554
HP:0040255	Aplasia/Hypoplasia of the clitoris	22930	RAB3GAP1	ORPHA:2510
HP:0040255	Aplasia/Hypoplasia of the clitoris	25782	RAB3GAP2	ORPHA:2510
HP:0040255	Aplasia/Hypoplasia of the clitoris	22931	RAB18	ORPHA:2510
HP:0040255	Aplasia/Hypoplasia of the clitoris	128637	TBC1D20	ORPHA:2510
HP:0040255	Aplasia/Hypoplasia of the clitoris	7681	MKRN3	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	3653	IPW	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	791114	PWRN1	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	100033413	SNORD116-1	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	8924	HERC2	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	145624	PWAR1	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	23742	NPAP1	OMIM:176270
HP:0040255	Aplasia/Hypoplasia of the clitoris	338433	SNORD115-1	OMIM:176270
HP:0040257	Abnormal size of nasopharyngeal adenoids	89970	RSPRY1	ORPHA:457395
HP:0040257	Abnormal size of nasopharyngeal adenoids	3423	IDS	ORPHA:217085
HP:0040257	Abnormal size of nasopharyngeal adenoids	3423	IDS	ORPHA:217093
HP:0040257	Abnormal size of nasopharyngeal adenoids	51341	ZBTB7A	OMIM:619769
HP:0040250	Reduced prothrombin antigen	2147	F2	ORPHA:325
HP:0040250	Reduced prothrombin antigen	79001	VKORC1	OMIM:607473
HP:0030039	Fused thoracic vertebrae	4621	MYH3	OMIM:618469
HP:0030034	Glomerular basement membrane lamellation	1285	COL4A3	OMIM:203780
HP:0030034	Glomerular basement membrane lamellation	1285	COL4A3	OMIM:104200
HP:0030034	Glomerular basement membrane lamellation	1286	COL4A4	OMIM:203780
HP:0030034	Glomerular basement membrane lamellation	1287	COL4A5	OMIM:301050
HP:0030033	Small finger	3549	IHH	OMIM:607778
HP:0030033	Small finger	3759	KCNJ2	OMIM:170390
HP:0030043	Hip subluxation	64135	IFIH1	OMIM:182250
HP:0030043	Hip subluxation	4921	DDR2	OMIM:271665
HP:0030043	Hip subluxation	3835	KIF22	ORPHA:93360
HP:0030043	Hip subluxation	57187	THOC2	OMIM:300957
HP:0030043	Hip subluxation	7355	SLC35A2	ORPHA:356961
HP:0030043	Hip subluxation	55628	ZNF407	OMIM:619557
HP:0030043	Hip subluxation	51608	GET4	OMIM:620200
HP:0030043	Hip subluxation	4796	TONSL	ORPHA:93357
HP:0030043	Hip subluxation	5351	PLOD1	ORPHA:1900
HP:0030043	Hip subluxation	28962	OSTM1	OMIM:259720
HP:0030043	Hip subluxation	1717	DHCR7	OMIM:270400
HP:0030043	Hip subluxation	27125	AFF4	ORPHA:444077
HP:0030043	Hip subluxation	4784	NFIX	ORPHA:447980
HP:0030043	Hip subluxation	84823	LMNB2	OMIM:619180
HP:0030043	Hip subluxation	51112	TRAPPC12	ORPHA:500144
HP:0030043	Hip subluxation	29998	BICRA	OMIM:619325
HP:0030043	Hip subluxation	9775	EIF4A3	OMIM:268305
HP:0030043	Hip subluxation	9451	EIF2AK3	OMIM:226980
HP:0030043	Hip subluxation	25871	NEPRO	OMIM:618853
HP:0030043	Hip subluxation	2783	GNB2	OMIM:619503
HP:0030043	Hip subluxation	79633	FAT4	OMIM:615546
HP:0030043	Hip subluxation	79158	GNPTAB	OMIM:252500
HP:0030043	Hip subluxation	126792	B3GALT6	OMIM:271640
HP:0030042	Incomplete ossification of pubis	2263	FGFR2	ORPHA:313855
HP:0030041	Schmorl's node	1297	COL9A1	OMIM:614135
HP:0030041	Schmorl's node	1280	COL2A1	OMIM:604864
HP:0004197	Symphalangism of the 4th finger	9241	NOG	OMIM:186500
HP:0040261	Increased size of nasopharyngeal adenoids	89970	RSPRY1	ORPHA:457395
HP:0040261	Increased size of nasopharyngeal adenoids	3423	IDS	ORPHA:217085
HP:0040261	Increased size of nasopharyngeal adenoids	3423	IDS	ORPHA:217093
HP:0040261	Increased size of nasopharyngeal adenoids	51341	ZBTB7A	OMIM:619769
HP:0040262	Glue ear	8364	H4C3	OMIM:619758
HP:0040262	Glue ear	25942	SIN3A	OMIM:613406
HP:0040262	Glue ear	55719	SLF2	OMIM:620184
HP:0040264	Jaw pain	6335	SCN9A	OMIM:133020
HP:0040264	Jaw pain	5621	PRNP	ORPHA:280397
HP:0040265	Upper limb muscle hypertrophy	5339	PLEC	ORPHA:254361
HP:0040265	Upper limb muscle hypertrophy	4000	LMNA	ORPHA:280365
HP:0040266	Proximal upper limb muscle hypertrophy	5339	PLEC	ORPHA:254361
HP:0040266	Proximal upper limb muscle hypertrophy	4000	LMNA	ORPHA:280365
HP:0040268	Recurrent infections of the middle ear	2070	EYA4	ORPHA:217622
HP:0030049	Brain abscess	94	ACVRL1	OMIM:600376
HP:0030049	Brain abscess	2022	ENG	OMIM:187300
HP:0030049	Brain abscess	2261	FGFR3	OMIM:616482
HP:0030048	Colpocephaly	3187	HNRNPH1	OMIM:620083
HP:0030048	Colpocephaly	10735	STAG2	OMIM:301043
HP:0030048	Colpocephaly	340075	ARSI	ORPHA:401815
HP:0030048	Colpocephaly	1349	COX7B	OMIM:309801
HP:0030048	Colpocephaly	3052	HCCS	OMIM:309801
HP:0030048	Colpocephaly	54539	NDUFB11	OMIM:309801
HP:0030048	Colpocephaly	54892	NCAPG2	OMIM:618460
HP:0030048	Colpocephaly	23522	KAT6B	OMIM:606170
HP:0030048	Colpocephaly	100151683	RNU4ATAC	OMIM:210710
HP:0030048	Colpocephaly	4659	PPP1R12A	OMIM:618820
HP:0030048	Colpocephaly	5828	PEX2	OMIM:614866
HP:0030048	Colpocephaly	8777	MPDZ	OMIM:615219
HP:0030048	Colpocephaly	51807	TUBA8	ORPHA:250972
HP:0030048	Colpocephaly	4897	NRCAM	OMIM:619833
HP:0030048	Colpocephaly	5361	PLXNA1	OMIM:619955
HP:0030048	Colpocephaly	1717	DHCR7	OMIM:270400
HP:0030048	Colpocephaly	79848	CSPP1	ORPHA:397715
HP:0030048	Colpocephaly	9786	KIAA0586	ORPHA:397715
HP:0030048	Colpocephaly	7707	ZNF148	OMIM:617260
HP:0030048	Colpocephaly	22872	SEC31A	OMIM:618651
HP:0030048	Colpocephaly	23028	KDM1A	ORPHA:477993
HP:0030048	Colpocephaly	57647	DHX37	OMIM:618731
HP:0030048	Colpocephaly	5192	PEX10	OMIM:614870
HP:0030048	Colpocephaly	29123	ANKRD11	ORPHA:261250
HP:0030048	Colpocephaly	55215	FANCI	OMIM:609053
HP:0030048	Colpocephaly	54820	NDE1	OMIM:614019
HP:0030048	Colpocephaly	118924	FRA10AC1	OMIM:620113
HP:0030048	Colpocephaly	55780	ERMARD	ORPHA:75857
HP:0030048	Colpocephaly	26153	KIF26A	OMIM:620156
HP:0030048	Colpocephaly	58499	ZNF462	OMIM:618619
HP:0030048	Colpocephaly	1759	DNM1	OMIM:620352
HP:0030047	Abnormal lateral ventricle morphology	81555	YIPF5	OMIM:619278
HP:0030047	Abnormal lateral ventricle morphology	10466	COG5	ORPHA:263487
HP:0030047	Abnormal lateral ventricle morphology	10159	ATP6AP2	ORPHA:363654
HP:0030047	Abnormal lateral ventricle morphology	4750	NEK1	OMIM:263520
HP:0030047	Abnormal lateral ventricle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0030047	Abnormal lateral ventricle morphology	23394	ADNP	OMIM:615873
HP:0030047	Abnormal lateral ventricle morphology	7355	SLC35A2	ORPHA:356961
HP:0030047	Abnormal lateral ventricle morphology	7355	SLC35A2	OMIM:300896
HP:0030047	Abnormal lateral ventricle morphology	7545	ZIC1	OMIM:616602
HP:0030047	Abnormal lateral ventricle morphology	7545	ZIC1	OMIM:618736
HP:0030047	Abnormal lateral ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0030047	Abnormal lateral ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0030047	Abnormal lateral ventricle morphology	80816	ASXL3	OMIM:615485
HP:0030047	Abnormal lateral ventricle morphology	387787	LIPT2	OMIM:617668
HP:0030047	Abnormal lateral ventricle morphology	1841	DTYMK	OMIM:619847
HP:0030047	Abnormal lateral ventricle morphology	23291	FBXW11	OMIM:618914
HP:0030047	Abnormal lateral ventricle morphology	4953	ODC1	ORPHA:544488
HP:0030047	Abnormal lateral ventricle morphology	57505	AARS2	OMIM:615889
HP:0030047	Abnormal lateral ventricle morphology	9382	COG1	OMIM:611209
HP:0030047	Abnormal lateral ventricle morphology	90161	HS6ST2	OMIM:301025
HP:0030047	Abnormal lateral ventricle morphology	57551	TAOK1	OMIM:619575
HP:0030047	Abnormal lateral ventricle morphology	84340	GFM2	ORPHA:565624
HP:0030047	Abnormal lateral ventricle morphology	129685	TAF8	OMIM:619972
HP:0030047	Abnormal lateral ventricle morphology	10588	MTHFS	OMIM:618367
HP:0030047	Abnormal lateral ventricle morphology	347733	TUBB2B	ORPHA:300573
HP:0030047	Abnormal lateral ventricle morphology	11274	USP18	OMIM:617397
HP:0030047	Abnormal lateral ventricle morphology	7528	YY1	OMIM:617557
HP:0030047	Abnormal lateral ventricle morphology	10381	TUBB3	ORPHA:300570
HP:0030047	Abnormal lateral ventricle morphology	81857	MED25	ORPHA:464738
HP:0030047	Abnormal lateral ventricle morphology	8792	TNFRSF11A	OMIM:612301
HP:0030047	Abnormal lateral ventricle morphology	9361	LONP1	ORPHA:79243
HP:0030047	Abnormal lateral ventricle morphology	5160	PDHA1	ORPHA:79243
HP:0030047	Abnormal lateral ventricle morphology	83480	PUS3	ORPHA:488627
HP:0030047	Abnormal lateral ventricle morphology	54806	AHI1	OMIM:608629
HP:0030047	Abnormal lateral ventricle morphology	80311	KLHL15	OMIM:300982
HP:0030047	Abnormal lateral ventricle morphology	29968	PSAT1	ORPHA:284417
HP:0030047	Abnormal lateral ventricle morphology	9839	ZEB2	ORPHA:261552
HP:0030047	Abnormal lateral ventricle morphology	9839	ZEB2	ORPHA:261537
HP:0030047	Abnormal lateral ventricle morphology	2009	EML1	OMIM:600348
HP:0030047	Abnormal lateral ventricle morphology	25930	PTPN23	OMIM:618890
HP:0030047	Abnormal lateral ventricle morphology	5277	PIGA	OMIM:300868
HP:0030047	Abnormal lateral ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0030047	Abnormal lateral ventricle morphology	80208	SPG11	ORPHA:2822
HP:0030047	Abnormal lateral ventricle morphology	1641	DCX	ORPHA:2148
HP:0030047	Abnormal lateral ventricle morphology	10352	WARS2	ORPHA:572798
HP:0030047	Abnormal lateral ventricle morphology	23230	VPS13A	ORPHA:2388
HP:0030047	Abnormal lateral ventricle morphology	200734	SPRED2	OMIM:619745
HP:0030047	Abnormal lateral ventricle morphology	2752	GLUL	OMIM:610015
HP:0030047	Abnormal lateral ventricle morphology	6304	SATB1	OMIM:619229
HP:0030047	Abnormal lateral ventricle morphology	6638	SNRPN	ORPHA:177907
HP:0030047	Abnormal lateral ventricle morphology	57572	DOCK6	OMIM:614219
HP:0030047	Abnormal lateral ventricle morphology	80347	COASY	OMIM:618266
HP:0030047	Abnormal lateral ventricle morphology	57498	KIDINS220	OMIM:617296
HP:0030047	Abnormal lateral ventricle morphology	56006	SMG9	OMIM:619995
HP:0030047	Abnormal lateral ventricle morphology	9851	KIAA0753	OMIM:619479
HP:0030047	Abnormal lateral ventricle morphology	54539	NDUFB11	OMIM:300952
HP:0030047	Abnormal lateral ventricle morphology	1182	CLCN3	OMIM:619517
HP:0030047	Abnormal lateral ventricle morphology	1213	CLTC	OMIM:617854
HP:0030047	Abnormal lateral ventricle morphology	4329	ALDH6A1	OMIM:614105
HP:0030047	Abnormal lateral ventricle morphology	4784	NFIX	ORPHA:420179
HP:0030047	Abnormal lateral ventricle morphology	93210	PGAP3	OMIM:615716
HP:0030047	Abnormal lateral ventricle morphology	2896	GRN	OMIM:607485
HP:0030047	Abnormal lateral ventricle morphology	85365	ALG2	ORPHA:79326
HP:0030047	Abnormal lateral ventricle morphology	284252	KCTD1	OMIM:181270
HP:0030047	Abnormal lateral ventricle morphology	728294	D2HGDH	OMIM:600721
HP:0030047	Abnormal lateral ventricle morphology	100147744	RNU7-1	OMIM:619487
HP:0030047	Abnormal lateral ventricle morphology	91875	TTC5	OMIM:619244
HP:0030047	Abnormal lateral ventricle morphology	7443	VRK1	OMIM:607596
HP:0030047	Abnormal lateral ventricle morphology	51244	CCDC174	OMIM:616816
HP:0030047	Abnormal lateral ventricle morphology	10430	TMEM147	OMIM:620075
HP:0030047	Abnormal lateral ventricle morphology	79989	IFT56	OMIM:619534
HP:0030047	Abnormal lateral ventricle morphology	5879	RAC1	OMIM:617751
HP:0030047	Abnormal lateral ventricle morphology	5528	PPP2R5D	ORPHA:457279
HP:0030047	Abnormal lateral ventricle morphology	6651	SON	ORPHA:500150
HP:0030047	Abnormal lateral ventricle morphology	9215	LARGE1	OMIM:613154
HP:0030047	Abnormal lateral ventricle morphology	738	VPS51	OMIM:618606
HP:0030047	Abnormal lateral ventricle morphology	2146	EZH2	OMIM:277590
HP:0030047	Abnormal lateral ventricle morphology	8139	GAN	OMIM:256850
HP:0030047	Abnormal lateral ventricle morphology	2639	GCDH	OMIM:231670
HP:0030047	Abnormal lateral ventricle morphology	23299	BICD2	OMIM:618291
HP:0030047	Abnormal lateral ventricle morphology	7546	ZIC2	OMIM:609637
HP:0030047	Abnormal lateral ventricle morphology	7305	TYROBP	OMIM:221770
HP:0030047	Abnormal lateral ventricle morphology	1523	CUX1	OMIM:618330
HP:0030047	Abnormal lateral ventricle morphology	3763	KCNJ6	OMIM:614098
HP:0030047	Abnormal lateral ventricle morphology	22930	RAB3GAP1	OMIM:619420
HP:0030047	Abnormal lateral ventricle morphology	4208	MEF2C	OMIM:613443
HP:0030047	Abnormal lateral ventricle morphology	2902	GRIN1	ORPHA:208447
HP:0030047	Abnormal lateral ventricle morphology	8085	KMT2D	OMIM:147920
HP:0030047	Abnormal lateral ventricle morphology	7403	KDM6A	OMIM:147920
HP:0030047	Abnormal lateral ventricle morphology	54872	PIGG	ORPHA:488635
HP:0030047	Abnormal lateral ventricle morphology	1387	CREBBP	ORPHA:353277
HP:0030047	Abnormal lateral ventricle morphology	2033	EP300	ORPHA:353284
HP:0030047	Abnormal lateral ventricle morphology	79868	ALG13	ORPHA:324422
HP:0030047	Abnormal lateral ventricle morphology	54	ACP5	ORPHA:1855
HP:0030047	Abnormal lateral ventricle morphology	3187	HNRNPH1	OMIM:620083
HP:0030047	Abnormal lateral ventricle morphology	10735	STAG2	OMIM:301043
HP:0030047	Abnormal lateral ventricle morphology	340075	ARSI	ORPHA:401815
HP:0030047	Abnormal lateral ventricle morphology	1349	COX7B	OMIM:309801
HP:0030047	Abnormal lateral ventricle morphology	3052	HCCS	OMIM:309801
HP:0030047	Abnormal lateral ventricle morphology	54892	NCAPG2	OMIM:618460
HP:0030047	Abnormal lateral ventricle morphology	23522	KAT6B	OMIM:606170
HP:0030047	Abnormal lateral ventricle morphology	4659	PPP1R12A	OMIM:618820
HP:0030047	Abnormal lateral ventricle morphology	5828	PEX2	OMIM:614866
HP:0030047	Abnormal lateral ventricle morphology	8777	MPDZ	OMIM:615219
HP:0030047	Abnormal lateral ventricle morphology	51807	TUBA8	ORPHA:250972
HP:0030047	Abnormal lateral ventricle morphology	4897	NRCAM	OMIM:619833
HP:0030047	Abnormal lateral ventricle morphology	5361	PLXNA1	OMIM:619955
HP:0030047	Abnormal lateral ventricle morphology	1717	DHCR7	OMIM:270400
HP:0030047	Abnormal lateral ventricle morphology	7707	ZNF148	OMIM:617260
HP:0030047	Abnormal lateral ventricle morphology	22872	SEC31A	OMIM:618651
HP:0030047	Abnormal lateral ventricle morphology	23028	KDM1A	ORPHA:477993
HP:0030047	Abnormal lateral ventricle morphology	57647	DHX37	OMIM:618731
HP:0030047	Abnormal lateral ventricle morphology	5192	PEX10	OMIM:614870
HP:0030047	Abnormal lateral ventricle morphology	29123	ANKRD11	ORPHA:261250
HP:0030047	Abnormal lateral ventricle morphology	55215	FANCI	OMIM:609053
HP:0030047	Abnormal lateral ventricle morphology	54820	NDE1	OMIM:614019
HP:0030047	Abnormal lateral ventricle morphology	118924	FRA10AC1	OMIM:620113
HP:0030047	Abnormal lateral ventricle morphology	55780	ERMARD	ORPHA:75857
HP:0030047	Abnormal lateral ventricle morphology	26153	KIF26A	OMIM:620156
HP:0030047	Abnormal lateral ventricle morphology	58499	ZNF462	OMIM:618619
HP:0030047	Abnormal lateral ventricle morphology	1759	DNM1	OMIM:620352
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615350
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615351
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615352
HP:0030046	Hypoglycosylation of alpha-dystroglycan	79147	FKRP	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	79147	FKRP	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29954	POMT2	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29954	POMT2	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	OMIM:609308
HP:0030046	Hypoglycosylation of alpha-dystroglycan	84197	POMK	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	2218	FKTN	ORPHA:272
HP:0030046	Hypoglycosylation of alpha-dystroglycan	2218	FKTN	OMIM:611588
HP:0030046	Hypoglycosylation of alpha-dystroglycan	729920	CRPPA	OMIM:616052
HP:0030046	Hypoglycosylation of alpha-dystroglycan	729920	CRPPA	ORPHA:352479
HP:0030046	Hypoglycosylation of alpha-dystroglycan	9570	GOSR2	OMIM:620166
HP:0030046	Hypoglycosylation of alpha-dystroglycan	1605	DAG1	ORPHA:370997
HP:0030046	Hypoglycosylation of alpha-dystroglycan	1605	DAG1	OMIM:613818
HP:0030044	Flexion contracture of digit	64093	SMOC1	OMIM:206920
HP:0030044	Flexion contracture of digit	64093	SMOC1	ORPHA:1106
HP:0030044	Flexion contracture of digit	1832	DSP	ORPHA:158687
HP:0030044	Flexion contracture of digit	3728	JUP	ORPHA:158687
HP:0030044	Flexion contracture of digit	91179	SCARF2	OMIM:600920
HP:0030044	Flexion contracture of digit	2737	GLI3	OMIM:175700
HP:0030044	Flexion contracture of digit	84295	PHF6	ORPHA:127
HP:0030044	Flexion contracture of digit	4313	MMP2	OMIM:259600
HP:0030044	Flexion contracture of digit	55628	ZNF407	OMIM:619557
HP:0030044	Flexion contracture of digit	23219	FBXO28	OMIM:619777
HP:0030044	Flexion contracture of digit	84265	POLR3GL	OMIM:619234
HP:0030044	Flexion contracture of digit	29072	SETD2	ORPHA:821
HP:0030044	Flexion contracture of digit	10297	APC2	ORPHA:821
HP:0030044	Flexion contracture of digit	139285	AMER1	OMIM:300373
HP:0030044	Flexion contracture of digit	11160	ERLIN2	ORPHA:209951
HP:0030044	Flexion contracture of digit	55315	SLC29A3	OMIM:602782
HP:0030044	Flexion contracture of digit	2200	FBN1	OMIM:608328
HP:0030044	Flexion contracture of digit	23556	PIGN	ORPHA:280633
HP:0030044	Flexion contracture of digit	22978	NT5C2	ORPHA:320396
HP:0030044	Flexion contracture of digit	64127	NOD2	OMIM:186580
HP:0030044	Flexion contracture of digit	4621	MYH3	OMIM:193700
HP:0030044	Flexion contracture of digit	23102	TBC1D2B	OMIM:619323
HP:0030044	Flexion contracture of digit	3977	LIFR	OMIM:601559
HP:0030044	Flexion contracture of digit	7043	TGFB3	OMIM:615582
HP:0030044	Flexion contracture of digit	1984	EIF5A	OMIM:619376
HP:0030044	Flexion contracture of digit	5696	PSMB8	OMIM:256040
HP:0030044	Flexion contracture of digit	3339	HSPG2	OMIM:255800
HP:0030044	Flexion contracture of digit	3339	HSPG2	ORPHA:800
HP:0030044	Flexion contracture of digit	2067	ERCC1	OMIM:610758
HP:0030044	Flexion contracture of digit	51305	KCNK9	ORPHA:166108
HP:0030044	Flexion contracture of digit	22880	MORC2	ORPHA:466768
HP:0030044	Flexion contracture of digit	825	CAPN3	ORPHA:267
HP:0030044	Flexion contracture of digit	113179	ADAT3	ORPHA:363528
HP:0030044	Flexion contracture of digit	10765	KDM5B	OMIM:618109
HP:0030044	Flexion contracture of digit	9487	PIGL	OMIM:280000
HP:0030044	Flexion contracture of digit	10093	ARPC4	OMIM:620141
HP:0030044	Flexion contracture of digit	11011	TLK2	OMIM:618050
HP:0030044	Flexion contracture of digit	80816	ASXL3	OMIM:615485
HP:0030044	Flexion contracture of digit	81857	MED25	ORPHA:464738
HP:0030044	Flexion contracture of digit	6909	TBX2	OMIM:618223
HP:0030044	Flexion contracture of digit	1277	COL1A1	OMIM:130060
HP:0030044	Flexion contracture of digit	6134	RPL10	OMIM:300998
HP:0030044	Flexion contracture of digit	23327	NEDD4L	OMIM:617201
HP:0030044	Flexion contracture of digit	8985	PLOD3	OMIM:612394
HP:0030044	Flexion contracture of digit	91754	NEK9	OMIM:614262
HP:0030044	Flexion contracture of digit	775	CACNA1C	OMIM:620029
HP:0030044	Flexion contracture of digit	3008	H1-4	OMIM:617537
HP:0030044	Flexion contracture of digit	5830	PEX5	OMIM:214110
HP:0030044	Flexion contracture of digit	5447	POR	ORPHA:95699
HP:0030044	Flexion contracture of digit	5447	POR	OMIM:201750
HP:0030044	Flexion contracture of digit	5447	POR	OMIM:207410
HP:0030044	Flexion contracture of digit	4649	MYO9A	OMIM:618198
HP:0030044	Flexion contracture of digit	79158	GNPTAB	OMIM:252500
HP:0030044	Flexion contracture of digit	9382	COG1	OMIM:611209
HP:0030044	Flexion contracture of digit	57231	SNX14	ORPHA:397709
HP:0030044	Flexion contracture of digit	57231	SNX14	OMIM:616354
HP:0030044	Flexion contracture of digit	7125	TNNC2	OMIM:620161
HP:0030044	Flexion contracture of digit	56992	KIF15	ORPHA:261323
HP:0030044	Flexion contracture of digit	57589	RIC1	OMIM:618761
HP:0030044	Flexion contracture of digit	1272	CNTN1	OMIM:612540
HP:0030044	Flexion contracture of digit	9839	ZEB2	ORPHA:261552
HP:0030044	Flexion contracture of digit	9839	ZEB2	ORPHA:261537
HP:0030044	Flexion contracture of digit	80776	B9D2	OMIM:614175
HP:0030044	Flexion contracture of digit	1954	MEGF8	OMIM:614976
HP:0030044	Flexion contracture of digit	23314	SATB2	OMIM:612313
HP:0030044	Flexion contracture of digit	2752	GLUL	OMIM:610015
HP:0030044	Flexion contracture of digit	8642	DCHS1	OMIM:601390
HP:0030044	Flexion contracture of digit	8642	DCHS1	ORPHA:314679
HP:0030044	Flexion contracture of digit	79053	ALG8	OMIM:608104
HP:0030044	Flexion contracture of digit	79053	ALG8	ORPHA:79325
HP:0030044	Flexion contracture of digit	26227	PHGDH	OMIM:256520
HP:0030044	Flexion contracture of digit	57167	SALL4	ORPHA:233
HP:0030044	Flexion contracture of digit	1123	CHN1	ORPHA:233
HP:0030044	Flexion contracture of digit	1798	DPAGT1	ORPHA:86309
HP:0030044	Flexion contracture of digit	3572	IL6ST	OMIM:619751
HP:0030044	Flexion contracture of digit	7862	BRPF1	OMIM:617333
HP:0030044	Flexion contracture of digit	1001	CDH3	OMIM:225280
HP:0030044	Flexion contracture of digit	5828	PEX2	OMIM:614866
HP:0030044	Flexion contracture of digit	79228	THOC6	ORPHA:363444
HP:0030044	Flexion contracture of digit	4094	MAF	ORPHA:1272
HP:0030044	Flexion contracture of digit	4094	MAF	OMIM:601088
HP:0030044	Flexion contracture of digit	4089	SMAD4	OMIM:139210
HP:0030044	Flexion contracture of digit	163175	LGI4	OMIM:617468
HP:0030044	Flexion contracture of digit	388015	RTL1	ORPHA:96334
HP:0030044	Flexion contracture of digit	388015	RTL1	ORPHA:254528
HP:0030044	Flexion contracture of digit	8788	DLK1	ORPHA:96334
HP:0030044	Flexion contracture of digit	8788	DLK1	ORPHA:254528
HP:0030044	Flexion contracture of digit	55384	MEG3	ORPHA:96334
HP:0030044	Flexion contracture of digit	55384	MEG3	ORPHA:254528
HP:0030044	Flexion contracture of digit	11107	PRDM5	ORPHA:90354
HP:0030044	Flexion contracture of digit	84627	ZNF469	ORPHA:90354
HP:0030044	Flexion contracture of digit	8626	TP63	OMIM:603543
HP:0030044	Flexion contracture of digit	8813	DPM1	OMIM:608799
HP:0030044	Flexion contracture of digit	8813	DPM1	ORPHA:79322
HP:0030044	Flexion contracture of digit	79087	ALG12	ORPHA:79324
HP:0030044	Flexion contracture of digit	171023	ASXL1	OMIM:605039
HP:0030044	Flexion contracture of digit	26100	WIPI2	OMIM:618453
HP:0030044	Flexion contracture of digit	8621	CDK13	OMIM:617360
HP:0030044	Flexion contracture of digit	9427	ECEL1	OMIM:615065
HP:0030044	Flexion contracture of digit	2702	GJA5	OMIM:612474
HP:0030044	Flexion contracture of digit	2703	GJA8	OMIM:612474
HP:0030044	Flexion contracture of digit	1801	DPH1	ORPHA:459061
HP:0030044	Flexion contracture of digit	10075	HUWE1	OMIM:309590
HP:0030044	Flexion contracture of digit	81848	SPRY4	ORPHA:432
HP:0030044	Flexion contracture of digit	128674	PROKR2	ORPHA:432
HP:0030044	Flexion contracture of digit	2253	FGF8	ORPHA:432
HP:0030044	Flexion contracture of digit	60675	PROK2	ORPHA:432
HP:0030044	Flexion contracture of digit	55636	CHD7	ORPHA:432
HP:0030044	Flexion contracture of digit	6870	TACR3	ORPHA:432
HP:0030044	Flexion contracture of digit	1848	DUSP6	ORPHA:432
HP:0030044	Flexion contracture of digit	26012	NSMF	ORPHA:432
HP:0030044	Flexion contracture of digit	55717	WDR11	ORPHA:432
HP:0030044	Flexion contracture of digit	9394	HS6ST1	ORPHA:432
HP:0030044	Flexion contracture of digit	2796	GNRH1	ORPHA:432
HP:0030044	Flexion contracture of digit	2798	GNRHR	ORPHA:432
HP:0030044	Flexion contracture of digit	84634	KISS1R	ORPHA:432
HP:0030044	Flexion contracture of digit	6866	TAC3	ORPHA:432
HP:0030044	Flexion contracture of digit	8822	FGF17	ORPHA:432
HP:0030044	Flexion contracture of digit	3814	KISS1	ORPHA:432
HP:0030044	Flexion contracture of digit	23111	SPART	OMIM:275900
HP:0030044	Flexion contracture of digit	8243	SMC1A	OMIM:301044
HP:0030044	Flexion contracture of digit	1281	COL3A1	OMIM:618343
HP:0030044	Flexion contracture of digit	9158	FIBP	ORPHA:500095
HP:0030044	Flexion contracture of digit	84162	BLTP1	OMIM:617822
HP:0030044	Flexion contracture of digit	2263	FGFR2	OMIM:207410
HP:0030044	Flexion contracture of digit	998	CDC42	OMIM:616737
HP:0030044	Flexion contracture of digit	998	CDC42	ORPHA:487796
HP:0030044	Flexion contracture of digit	54808	DYM	OMIM:223800
HP:0030044	Flexion contracture of digit	28982	FLVCR1	ORPHA:88628
HP:0030044	Flexion contracture of digit	28982	FLVCR1	OMIM:609033
HP:0030044	Flexion contracture of digit	56915	EXOSC5	OMIM:619576
HP:0030044	Flexion contracture of digit	55906	ZC4H2	OMIM:314580
HP:0030044	Flexion contracture of digit	92255	LMBRD2	OMIM:619694
HP:0030044	Flexion contracture of digit	23511	NUP188	OMIM:618804
HP:0030044	Flexion contracture of digit	92344	GORAB	OMIM:231070
HP:0030044	Flexion contracture of digit	29940	DSE	OMIM:615539
HP:0030044	Flexion contracture of digit	23389	MED13L	ORPHA:369891
HP:0030044	Flexion contracture of digit	91647	ATPAF2	OMIM:604273
HP:0030044	Flexion contracture of digit	727857	BHLHA9	OMIM:607539
HP:0030044	Flexion contracture of digit	10943	MSL3	OMIM:301032
HP:0030044	Flexion contracture of digit	633	BGN	OMIM:300989
HP:0030044	Flexion contracture of digit	79576	NKAP	OMIM:301039
HP:0030044	Flexion contracture of digit	84896	ATAD1	OMIM:618011
HP:0030044	Flexion contracture of digit	25	ABL1	OMIM:617602
HP:0030044	Flexion contracture of digit	3930	LBR	OMIM:618019
HP:0030044	Flexion contracture of digit	54551	MAGEL2	OMIM:615547
HP:0030044	Flexion contracture of digit	26040	SETBP1	ORPHA:798
HP:0030044	Flexion contracture of digit	6611	SMS	ORPHA:3063
HP:0030044	Flexion contracture of digit	55975	KLHL7	OMIM:617055
HP:0030044	Flexion contracture of digit	1861	TOR1A	OMIM:618947
HP:0030044	Flexion contracture of digit	246329	STAC3	ORPHA:168572
HP:0030044	Flexion contracture of digit	51715	RAB23	OMIM:201000
HP:0030044	Flexion contracture of digit	83737	ITCH	OMIM:613385
HP:0030044	Flexion contracture of digit	83737	ITCH	ORPHA:228426
HP:0030044	Flexion contracture of digit	90416	CCDC32	OMIM:619123
HP:0030044	Flexion contracture of digit	2273	FHL1	OMIM:300280
HP:0030044	Flexion contracture of digit	342035	GLDN	OMIM:617194
HP:0030044	Flexion contracture of digit	10084	PQBP1	OMIM:309500
HP:0030044	Flexion contracture of digit	3868	KRT16	ORPHA:2199
HP:0030044	Flexion contracture of digit	3857	KRT9	ORPHA:2199
HP:0030044	Flexion contracture of digit	3848	KRT1	ORPHA:2199
HP:0030044	Flexion contracture of digit	6913	TBX15	OMIM:260660
HP:0030044	Flexion contracture of digit	2036	EPB41L1	OMIM:614257
HP:0030044	Flexion contracture of digit	523	ATP6V1A	OMIM:617403
HP:0030044	Flexion contracture of digit	529	ATP6V1E1	OMIM:617402
HP:0030044	Flexion contracture of digit	4233	MET	OMIM:620019
HP:0030044	Flexion contracture of digit	170302	ARX	OMIM:309510
HP:0030044	Flexion contracture of digit	64065	PERP	OMIM:619208
HP:0030044	Flexion contracture of digit	5528	PPP2R5D	ORPHA:457279
HP:0030044	Flexion contracture of digit	2218	FKTN	ORPHA:272
HP:0030044	Flexion contracture of digit	259232	NALCN	ORPHA:2053
HP:0030044	Flexion contracture of digit	259232	NALCN	ORPHA:1146
HP:0030044	Flexion contracture of digit	8294	H4C9	OMIM:619951
HP:0030044	Flexion contracture of digit	3094	HINT1	ORPHA:324442
HP:0030044	Flexion contracture of digit	8838	CCN6	OMIM:208230
HP:0030044	Flexion contracture of digit	1947	EFNB1	ORPHA:1520
HP:0030044	Flexion contracture of digit	7355	SLC35A2	ORPHA:356961
HP:0030044	Flexion contracture of digit	118429	ANTXR2	ORPHA:2176
HP:0030044	Flexion contracture of digit	5077	PAX3	ORPHA:1529
HP:0030044	Flexion contracture of digit	5077	PAX3	ORPHA:896
HP:0030044	Flexion contracture of digit	5077	PAX3	OMIM:148820
HP:0030044	Flexion contracture of digit	2316	FLNA	OMIM:300244
HP:0030044	Flexion contracture of digit	2316	FLNA	ORPHA:90652
HP:0030044	Flexion contracture of digit	2316	FLNA	ORPHA:1826
HP:0030044	Flexion contracture of digit	2316	FLNA	OMIM:305620
HP:0030044	Flexion contracture of digit	9241	NOG	ORPHA:3250
HP:0030044	Flexion contracture of digit	8200	GDF5	ORPHA:3250
HP:0030044	Flexion contracture of digit	54968	TMEM70	ORPHA:1194
HP:0030044	Flexion contracture of digit	613	BCR	ORPHA:261330
HP:0030044	Flexion contracture of digit	1399	CRKL	ORPHA:261330
HP:0030044	Flexion contracture of digit	5594	MAPK1	ORPHA:261330
HP:0030044	Flexion contracture of digit	84466	MEGF10	OMIM:614399
HP:0030044	Flexion contracture of digit	72	ACTG2	ORPHA:2604
HP:0030044	Flexion contracture of digit	10216	PRG4	ORPHA:2848
HP:0030044	Flexion contracture of digit	3508	IGHMBP2	OMIM:604320
HP:0030044	Flexion contracture of digit	6926	TBX3	ORPHA:3138
HP:0030044	Flexion contracture of digit	51360	MBTPS2	ORPHA:2273
HP:0030044	Flexion contracture of digit	10381	TUBB3	OMIM:600638
HP:0030044	Flexion contracture of digit	9469	CHST3	OMIM:143095
HP:0030044	Flexion contracture of digit	3423	IDS	ORPHA:217085
HP:0030044	Flexion contracture of digit	3423	IDS	ORPHA:217093
HP:0030044	Flexion contracture of digit	64359	NXN	ORPHA:1507
HP:0030044	Flexion contracture of digit	4920	ROR2	ORPHA:1507
HP:0030044	Flexion contracture of digit	2697	GJA1	ORPHA:2710
HP:0030044	Flexion contracture of digit	2697	GJA1	ORPHA:93404
HP:0030044	Flexion contracture of digit	6999	TDO2	OMIM:600627
HP:0030044	Flexion contracture of digit	1301	COL11A1	ORPHA:2021
HP:0030044	Flexion contracture of digit	1302	COL11A2	ORPHA:2021
HP:0030044	Flexion contracture of digit	10716	TBR1	ORPHA:1617
HP:0030044	Flexion contracture of digit	3425	IDUA	OMIM:607015
HP:0030044	Flexion contracture of digit	3425	IDUA	ORPHA:93473
HP:0030044	Flexion contracture of digit	4593	MUSK	OMIM:208150
HP:0030044	Flexion contracture of digit	4593	MUSK	ORPHA:994
HP:0030044	Flexion contracture of digit	63895	PIEZO2	OMIM:114300
HP:0030044	Flexion contracture of digit	63895	PIEZO2	ORPHA:376
HP:0030044	Flexion contracture of digit	63895	PIEZO2	ORPHA:2461
HP:0030044	Flexion contracture of digit	56006	SMG9	OMIM:616920
HP:0030044	Flexion contracture of digit	1857	DVL3	ORPHA:3107
HP:0030044	Flexion contracture of digit	7474	WNT5A	ORPHA:3107
HP:0030044	Flexion contracture of digit	1855	DVL1	ORPHA:3107
HP:0030044	Flexion contracture of digit	2535	FZD2	ORPHA:3107
HP:0030044	Flexion contracture of digit	9508	ADAMTS3	ORPHA:2136
HP:0030044	Flexion contracture of digit	147372	CCBE1	ORPHA:2136
HP:0030044	Flexion contracture of digit	79633	FAT4	ORPHA:2136
HP:0030044	Flexion contracture of digit	5189	PEX1	ORPHA:3220
HP:0030044	Flexion contracture of digit	5190	PEX6	ORPHA:3220
HP:0030044	Flexion contracture of digit	5590	PRKCZ	ORPHA:1606
HP:0030044	Flexion contracture of digit	2563	GABRD	ORPHA:1606
HP:0030044	Flexion contracture of digit	23013	SPEN	ORPHA:1606
HP:0030044	Flexion contracture of digit	8510	MMP23B	ORPHA:1606
HP:0030044	Flexion contracture of digit	7798	LUZP1	ORPHA:1606
HP:0030044	Flexion contracture of digit	6497	SKI	ORPHA:1606
HP:0030044	Flexion contracture of digit	6497	SKI	ORPHA:2462
HP:0030044	Flexion contracture of digit	10630	PDPN	ORPHA:1606
HP:0030044	Flexion contracture of digit	10277	UBE4B	ORPHA:1606
HP:0030044	Flexion contracture of digit	8514	KCNAB2	ORPHA:1606
HP:0030044	Flexion contracture of digit	473	RERE	ORPHA:1606
HP:0030044	Flexion contracture of digit	63976	PRDM16	ORPHA:1606
HP:0030044	Flexion contracture of digit	54897	CASZ1	ORPHA:1606
HP:0030044	Flexion contracture of digit	9719	ADAMTSL2	OMIM:231050
HP:0030044	Flexion contracture of digit	4952	OCRL	OMIM:309000
HP:0030044	Flexion contracture of digit	8517	IKBKG	ORPHA:464
HP:0030044	Flexion contracture of digit	10436	EMG1	ORPHA:1270
HP:0030044	Flexion contracture of digit	57492	ARID1B	ORPHA:251056
HP:0030044	Flexion contracture of digit	11128	POLR3A	ORPHA:3455
HP:0030044	Flexion contracture of digit	2239	GPC4	ORPHA:373
HP:0030044	Flexion contracture of digit	2719	GPC3	ORPHA:373
HP:0030044	Flexion contracture of digit	55612	FERMT1	ORPHA:2908
HP:0030044	Flexion contracture of digit	23483	TGDS	ORPHA:1388
HP:0030044	Flexion contracture of digit	2260	FGFR1	OMIM:166250
HP:0030044	Flexion contracture of digit	7140	TNNT3	ORPHA:1146
HP:0030044	Flexion contracture of digit	7169	TPM2	ORPHA:1146
HP:0030044	Flexion contracture of digit	7136	TNNI2	ORPHA:1146
HP:0030044	Flexion contracture of digit	7136	TNNI2	OMIM:601680
HP:0030044	Flexion contracture of digit	4604	MYBPC1	ORPHA:1146
HP:0030044	Flexion contracture of digit	6885	MAP3K7	ORPHA:1826
HP:0030044	Flexion contracture of digit	117581	TWIST2	ORPHA:920
HP:0030044	Flexion contracture of digit	64324	NSD1	ORPHA:3447
HP:0030044	Flexion contracture of digit	8726	EED	ORPHA:3447
HP:0030044	Flexion contracture of digit	23512	SUZ12	ORPHA:3447
HP:0030044	Flexion contracture of digit	2146	EZH2	ORPHA:3447
HP:0030044	Flexion contracture of digit	1723	DHODH	ORPHA:246
HP:0030044	Flexion contracture of digit	257	ALX3	ORPHA:391474
HP:0030044	Flexion contracture of digit	3239	HOXD13	OMIM:186300
HP:0030044	Flexion contracture of digit	3239	HOXD13	ORPHA:93406
HP:0030044	Flexion contracture of digit	54903	MKS1	OMIM:249000
HP:0030044	Flexion contracture of digit	91252	SLC39A13	OMIM:612350
HP:0030044	Flexion contracture of digit	22930	RAB3GAP1	OMIM:619420
HP:0030044	Flexion contracture of digit	7046	TGFBR1	ORPHA:60030
HP:0030044	Flexion contracture of digit	10526	IPO8	ORPHA:60030
HP:0030044	Flexion contracture of digit	7048	TGFBR2	ORPHA:60030
HP:0030044	Flexion contracture of digit	3897	L1CAM	ORPHA:2466
HP:0030044	Flexion contracture of digit	2245	FGD1	ORPHA:915
HP:0030044	Flexion contracture of digit	2201	FBN2	ORPHA:115
HP:0030044	Flexion contracture of digit	7227	TRPS1	ORPHA:77258
HP:0030044	Flexion contracture of digit	4088	SMAD3	ORPHA:284984
HP:0030044	Flexion contracture of digit	27238	GPKOW	ORPHA:2570
HP:0030044	Flexion contracture of digit	10466	COG5	ORPHA:263487
HP:0030044	Flexion contracture of digit	2068	ERCC2	OMIM:610756
HP:0030044	Flexion contracture of digit	2068	ERCC2	ORPHA:1466
HP:0030044	Flexion contracture of digit	51114	ZDHHC9	ORPHA:776
HP:0030044	Flexion contracture of digit	65109	UPF3B	ORPHA:776
HP:0030044	Flexion contracture of digit	9968	MED12	ORPHA:776
HP:0030044	Flexion contracture of digit	114548	NLRP3	ORPHA:575
HP:0030044	Flexion contracture of digit	2074	ERCC6	ORPHA:1466
HP:0030044	Flexion contracture of digit	2073	ERCC5	ORPHA:1466
HP:0030044	Flexion contracture of digit	134701	RIPPLY2	ORPHA:2311
HP:0030044	Flexion contracture of digit	10683	DLL3	ORPHA:2311
HP:0030044	Flexion contracture of digit	3955	LFNG	ORPHA:2311
HP:0030044	Flexion contracture of digit	84667	HES7	ORPHA:2311
HP:0030044	Flexion contracture of digit	145873	MESP2	ORPHA:2311
HP:0030044	Flexion contracture of digit	81620	CDT1	ORPHA:2554
HP:0030044	Flexion contracture of digit	5000	ORC4	ORPHA:2554
HP:0030044	Flexion contracture of digit	23594	ORC6	ORPHA:2554
HP:0030044	Flexion contracture of digit	8318	CDC45	ORPHA:2554
HP:0030044	Flexion contracture of digit	990	CDC6	ORPHA:2554
HP:0030044	Flexion contracture of digit	4998	ORC1	ORPHA:2554
HP:0030044	Flexion contracture of digit	51053	GMNN	ORPHA:2554
HP:0030044	Flexion contracture of digit	8260	NAA10	ORPHA:568
HP:0030044	Flexion contracture of digit	54880	BCOR	ORPHA:568
HP:0030044	Flexion contracture of digit	64327	LMBR1	ORPHA:93405
HP:0030044	Flexion contracture of digit	6469	SHH	ORPHA:93405
HP:0030044	Flexion contracture of digit	4927	NUP88	ORPHA:994
HP:0030044	Flexion contracture of digit	7846	TUBA1A	ORPHA:994
HP:0030044	Flexion contracture of digit	4654	MYOD1	ORPHA:994
HP:0030044	Flexion contracture of digit	5913	RAPSN	ORPHA:994
HP:0030044	Flexion contracture of digit	6572	SLC18A3	ORPHA:994
HP:0030044	Flexion contracture of digit	285489	DOK7	ORPHA:994
HP:0030044	Flexion contracture of digit	3914	LAMB3	OMIM:226650
HP:0030044	Flexion contracture of digit	9150	CTDP1	ORPHA:48431
HP:0030044	Flexion contracture of digit	8092	ALX1	ORPHA:306542
HP:0030044	Flexion contracture of digit	29895	MYL11	OMIM:619110
HP:0030044	Flexion contracture of digit	64840	PORCN	ORPHA:2092
HP:0030044	Flexion contracture of digit	23443	SLC35A3	OMIM:615553
HP:0030044	Flexion contracture of digit	285590	SH3PXD2B	ORPHA:137834
HP:0030044	Flexion contracture of digit	1836	SLC26A2	ORPHA:628
HP:0030044	Flexion contracture of digit	25914	RTTN	ORPHA:468631
HP:0030044	Flexion contracture of digit	9935	MAFB	ORPHA:2774
HP:0030044	Flexion contracture of digit	28952	CCDC22	OMIM:300963
HP:0030044	Flexion contracture of digit	8450	CUL4B	ORPHA:85293
HP:0030044	Flexion contracture of digit	1303	COL12A1	ORPHA:610
HP:0030044	Flexion contracture of digit	1291	COL6A1	ORPHA:610
HP:0030044	Flexion contracture of digit	1291	COL6A1	OMIM:158810
HP:0030044	Flexion contracture of digit	1292	COL6A2	ORPHA:610
HP:0030044	Flexion contracture of digit	1292	COL6A2	OMIM:158810
HP:0030044	Flexion contracture of digit	1293	COL6A3	ORPHA:610
HP:0030044	Flexion contracture of digit	1293	COL6A3	OMIM:158810
HP:0030044	Flexion contracture of digit	26092	TOR1AIP1	OMIM:617072
HP:0030044	Flexion contracture of digit	8242	KDM5C	ORPHA:85279
HP:0030044	Flexion contracture of digit	59341	TRPV4	ORPHA:2635
HP:0030044	Flexion contracture of digit	2261	FGFR3	ORPHA:85164
HP:0030044	Flexion contracture of digit	4000	LMNA	ORPHA:1662
HP:0030044	Flexion contracture of digit	10269	ZMPSTE24	ORPHA:1662
HP:0030044	Flexion contracture of digit	1146	CHRNG	ORPHA:2990
HP:0030044	Flexion contracture of digit	23522	KAT6B	ORPHA:3047
HP:0030044	Flexion contracture of digit	26123	TCTN3	ORPHA:2753
HP:0030044	Flexion contracture of digit	64131	XYLT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	124583	CANT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	55790	CSGALNACT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	23529	CLCF1	ORPHA:1545
HP:0030044	Flexion contracture of digit	9244	CRLF1	ORPHA:1545
HP:0030044	Flexion contracture of digit	51002	TPRKB	ORPHA:2065
HP:0030044	Flexion contracture of digit	84942	WDR73	ORPHA:2065
HP:0030044	Flexion contracture of digit	55644	OSGEP	ORPHA:2065
HP:0030044	Flexion contracture of digit	57122	NUP107	ORPHA:2065
HP:0030044	Flexion contracture of digit	10785	WDR4	ORPHA:2065
HP:0030044	Flexion contracture of digit	55746	NUP133	ORPHA:2065
HP:0030044	Flexion contracture of digit	112858	TP53RK	ORPHA:2065
HP:0030044	Flexion contracture of digit	8270	LAGE3	ORPHA:2065
HP:0030044	Flexion contracture of digit	56916	SMARCAD1	ORPHA:1658
HP:0030050	Narcolepsy	3060	HCRT	OMIM:161400
HP:0030050	Narcolepsy	1786	DNMT1	ORPHA:314404
HP:0030050	Narcolepsy	1786	DNMT1	OMIM:604121
HP:0030050	Narcolepsy	4340	MOG	OMIM:614250
HP:0030052	Inguinal freckling	4763	NF1	OMIM:601321
HP:0030052	Inguinal freckling	4763	NF1	OMIM:162200
HP:0030052	Inguinal freckling	4763	NF1	OMIM:193520
HP:0030052	Inguinal freckling	4763	NF1	ORPHA:363700
HP:0030052	Inguinal freckling	161742	SPRED1	OMIM:611431
HP:0030052	Inguinal freckling	161742	SPRED1	ORPHA:137605
HP:0030052	Inguinal freckling	56983	POGLUT1	ORPHA:79145
HP:0030052	Inguinal freckling	3852	KRT5	ORPHA:79145
HP:0030052	Inguinal freckling	23509	POFUT1	ORPHA:79145
HP:0030052	Inguinal freckling	55851	PSENEN	ORPHA:79145
HP:0030053	Stiff skin	51816	ADA2	OMIM:615688
HP:0030053	Stiff skin	4000	LMNA	ORPHA:1662
HP:0030053	Stiff skin	10269	ZMPSTE24	ORPHA:1662
HP:0030053	Stiff skin	55315	SLC29A3	ORPHA:168569
HP:0030053	Stiff skin	5696	PSMB8	OMIM:256040
HP:0030053	Stiff skin	4089	SMAD4	OMIM:139210
HP:0030053	Stiff skin	2200	FBN1	OMIM:184900
HP:0030054	Perifollicular fibrosis	51360	MBTPS2	OMIM:308800
HP:0030056	Uncombable hair	120766137	HRURF	OMIM:146550
HP:0030056	Uncombable hair	9652	SKIC3	ORPHA:84064
HP:0030056	Uncombable hair	6499	SKIC2	ORPHA:84064
HP:0030056	Uncombable hair	6499	SKIC2	OMIM:614602
HP:0030056	Uncombable hair	51702	PADI3	OMIM:191480
HP:0030056	Uncombable hair	8626	TP63	OMIM:129400
HP:0030056	Uncombable hair	7062	TCHH	OMIM:617252
HP:0030056	Uncombable hair	7053	TGM3	OMIM:617251
HP:0030057	Autoimmune antibody positivity	29775	CARD10	OMIM:619632
HP:0030057	Autoimmune antibody positivity	8737	RIPK1	OMIM:618852
HP:0030057	Autoimmune antibody positivity	8838	CCN6	ORPHA:1159
HP:0030057	Autoimmune antibody positivity	79415	CYBC1	OMIM:618935
HP:0030057	Autoimmune antibody positivity	3459	IFNGR1	OMIM:209950
HP:0030057	Autoimmune antibody positivity	5238	PGM3	ORPHA:443811
HP:0030057	Autoimmune antibody positivity	5238	PGM3	OMIM:615816
HP:0030057	Autoimmune antibody positivity	340061	STING1	OMIM:615934
HP:0030057	Autoimmune antibody positivity	6583	SLC22A4	OMIM:180300
HP:0030057	Autoimmune antibody positivity	26191	PTPN22	OMIM:180300
HP:0030057	Autoimmune antibody positivity	4261	CIITA	OMIM:180300
HP:0030057	Autoimmune antibody positivity	51744	CD244	OMIM:180300
HP:0030057	Autoimmune antibody positivity	4795	NFKBIL1	OMIM:180300
HP:0030057	Autoimmune antibody positivity	3586	IL10	OMIM:180300
HP:0030057	Autoimmune antibody positivity	3106	HLA-B	OMIM:106300
HP:0030057	Autoimmune antibody positivity	1288	COL4A6	ORPHA:1018
HP:0030057	Autoimmune antibody positivity	1287	COL4A5	ORPHA:1018
HP:0030057	Autoimmune antibody positivity	51311	TLR8	OMIM:301078
HP:0030057	Autoimmune antibody positivity	10312	TCIRG1	ORPHA:486
HP:0030057	Autoimmune antibody positivity	1991	ELANE	ORPHA:486
HP:0030057	Autoimmune antibody positivity	2672	GFI1	ORPHA:486
HP:0030057	Autoimmune antibody positivity	6729	SRP54	ORPHA:486
HP:0030057	Autoimmune antibody positivity	81570	CLPB	ORPHA:486
HP:0030057	Autoimmune antibody positivity	2215	FCGR3B	ORPHA:464370
HP:0030057	Autoimmune antibody positivity	355	FAS	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	355	FAS	OMIM:601859
HP:0030057	Autoimmune antibody positivity	356	FASLG	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	356	FASLG	OMIM:601859
HP:0030057	Autoimmune antibody positivity	5580	PRKCD	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	843	CASP10	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	843	CASP10	OMIM:603909
HP:0030057	Autoimmune antibody positivity	6775	STAT4	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	6696	SPP1	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	3654	IRAK1	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	9056	SLC7A7	ORPHA:470
HP:0030057	Autoimmune antibody positivity	1410	CRYAB	OMIM:608810
HP:0030057	Autoimmune antibody positivity	3560	IL2RB	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	3560	IL2RB	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	79722	ANKRD55	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	79722	ANKRD55	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	919	CD247	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	919	CD247	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	3559	IL2RA	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	3559	IL2RA	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	5771	PTPN2	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	5771	PTPN2	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	931	MS4A1	OMIM:613495
HP:0030057	Autoimmune antibody positivity	5336	PLCG2	OMIM:614468
HP:0030057	Autoimmune antibody positivity	3594	IL12RB1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	23534	TNPO3	ORPHA:186
HP:0030057	Autoimmune antibody positivity	3592	IL12A	ORPHA:186
HP:0030057	Autoimmune antibody positivity	6689	SPIB	ORPHA:186
HP:0030057	Autoimmune antibody positivity	5450	POU2AF1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	9966	TNFSF15	ORPHA:186
HP:0030057	Autoimmune antibody positivity	79258	MMEL1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	3663	IRF5	ORPHA:186
HP:0030057	Autoimmune antibody positivity	144811	LACC1	OMIM:618795
HP:0030057	Autoimmune antibody positivity	22861	NLRP1	OMIM:617388
HP:0030057	Autoimmune antibody positivity	1314	COPA	OMIM:616414
HP:0030057	Autoimmune antibody positivity	10095	ARPC1B	OMIM:617718
HP:0030057	Autoimmune antibody positivity	4313	MMP2	OMIM:259600
HP:0030057	Autoimmune antibody positivity	440275	EIF2AK4	ORPHA:199241
HP:0030057	Autoimmune antibody positivity	6772	STAT1	ORPHA:391487
HP:0030057	Autoimmune antibody positivity	10043	TOM1	ORPHA:391487
HP:0030057	Autoimmune antibody positivity	11277	TREX1	OMIM:225750
HP:0030057	Autoimmune antibody positivity	11277	TREX1	OMIM:152700
HP:0030057	Autoimmune antibody positivity	2212	FCGR2A	OMIM:152700
HP:0030057	Autoimmune antibody positivity	2213	FCGR2B	OMIM:152700
HP:0030057	Autoimmune antibody positivity	1773	DNASE1	OMIM:152700
HP:0030057	Autoimmune antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0030057	Autoimmune antibody positivity	54	ACP5	ORPHA:1855
HP:0030057	Autoimmune antibody positivity	1854	DUT	OMIM:620044
HP:0030057	Autoimmune antibody positivity	7128	TNFAIP3	OMIM:616744
HP:0030057	Autoimmune antibody positivity	51816	ADA2	OMIM:615688
HP:0030057	Autoimmune antibody positivity	100	ADA	ORPHA:277
HP:0030057	Autoimmune antibody positivity	51371	POMP	OMIM:618048
HP:0030057	Autoimmune antibody positivity	50943	FOXP3	ORPHA:37042
HP:0030057	Autoimmune antibody positivity	169792	GLIS3	OMIM:610199
HP:0030057	Autoimmune antibody positivity	10125	RASGRP1	OMIM:618534
HP:0030057	Autoimmune antibody positivity	7068	THRB	OMIM:274300
HP:0030057	Autoimmune antibody positivity	83737	ITCH	ORPHA:228426
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	8462	KLF11	ORPHA:552
HP:0030057	Autoimmune antibody positivity	2645	GCK	ORPHA:552
HP:0030057	Autoimmune antibody positivity	2645	GCK	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	26060	APPL1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	640	BLK	ORPHA:552
HP:0030057	Autoimmune antibody positivity	1056	CEL	ORPHA:552
HP:0030057	Autoimmune antibody positivity	4760	NEUROD1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3651	PDX1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3651	PDX1	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:552
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	5078	PAX4	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3172	HNF4A	ORPHA:552
HP:0030057	Autoimmune antibody positivity	6927	HNF1A	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3630	INS	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3630	INS	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	4791	NFKB2	ORPHA:293978
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:99819
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:424
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:90673
HP:0030057	Autoimmune antibody positivity	3123	HLA-DRB1	ORPHA:747
HP:0030057	Autoimmune antibody positivity	811	CALR	ORPHA:824
HP:0030057	Autoimmune antibody positivity	4352	MPL	ORPHA:824
HP:0030057	Autoimmune antibody positivity	3717	JAK2	ORPHA:824
HP:0030057	Autoimmune antibody positivity	54790	TET2	ORPHA:824
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:94089
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:79443
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:79444
HP:0030057	Autoimmune antibody positivity	8675	STX16	ORPHA:94089
HP:0030057	Autoimmune antibody positivity	7317	UBA1	OMIM:301054
HP:0030057	Autoimmune antibody positivity	79731	NARS2	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	6774	STAT3	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	346171	ZFP57	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	57061	HYMAI	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	5325	PLAGL1	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	7252	TSHB	ORPHA:90674
HP:0030057	Autoimmune antibody positivity	3458	IFNG	ORPHA:88
HP:0030057	Autoimmune antibody positivity	5551	PRF1	ORPHA:88
HP:0030057	Autoimmune antibody positivity	7012	TERC	ORPHA:88
HP:0030057	Autoimmune antibody positivity	51119	SBDS	ORPHA:88
HP:0030057	Autoimmune antibody positivity	7015	TERT	ORPHA:88
HP:0030057	Autoimmune antibody positivity	1439	CSF2RB	ORPHA:264675
HP:0030057	Autoimmune antibody positivity	1438	CSF2RA	ORPHA:264675
HP:0030057	Autoimmune antibody positivity	7201	TRHR	ORPHA:99832
HP:0030057	Autoimmune antibody positivity	1493	CTLA4	OMIM:140300
HP:0030057	Autoimmune antibody positivity	8772	FADD	ORPHA:306550
HP:0030057	Autoimmune antibody positivity	2903	GRIN2A	ORPHA:98818
HP:0030057	Autoimmune antibody positivity	5339	PLEC	ORPHA:254361
HP:0030057	Autoimmune antibody positivity	1134	CHRNA1	OMIM:601462
HP:0030057	Autoimmune antibody positivity	1134	CHRNA1	OMIM:608930
HP:0030057	Autoimmune antibody positivity	6329	SCN4A	OMIM:614198
HP:0030057	Autoimmune antibody positivity	5913	RAPSN	OMIM:616326
HP:0030057	Autoimmune antibody positivity	199857	ALG14	OMIM:616227
HP:0030057	Autoimmune antibody positivity	1103	CHAT	OMIM:254210
HP:0030057	Autoimmune antibody positivity	1103	CHAT	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	1140	CHRNB1	OMIM:616314
HP:0030057	Autoimmune antibody positivity	1140	CHRNB1	OMIM:616313
HP:0030057	Autoimmune antibody positivity	1145	CHRNE	OMIM:616324
HP:0030057	Autoimmune antibody positivity	1144	CHRND	OMIM:616323
HP:0030057	Autoimmune antibody positivity	9581	PREPL	OMIM:616224
HP:0030057	Autoimmune antibody positivity	60482	SLC5A7	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	4649	MYO9A	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	1305	COL13A1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6576	SLC25A1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6843	VAMP1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	375790	AGRN	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	127833	SYT2	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6572	SLC18A3	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6616	SNAP25	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	8292	COLQ	OMIM:603034
HP:0030057	Autoimmune antibody positivity	285489	DOK7	OMIM:254300
HP:0030057	Autoimmune antibody positivity	3930	LBR	OMIM:613471
HP:0030057	Autoimmune antibody positivity	60468	BACH2	OMIM:618394
HP:0030057	Autoimmune antibody positivity	50619	DEF6	OMIM:619573
HP:0030057	Autoimmune antibody positivity	6005	RHAG	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	6006	RHCE	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	6007	RHD	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	8651	SOCS1	OMIM:619375
HP:0030057	Autoimmune antibody positivity	51284	TLR7	OMIM:301080
HP:0030057	Autoimmune antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0030057	Autoimmune antibody positivity	5611	DNAJC3	OMIM:616192
HP:0030057	Autoimmune antibody positivity	93587	TRMT10A	OMIM:616033
HP:0030058	Sickled erythrocytes	3043	HBB	ORPHA:90039
HP:0040270	Impaired glucose tolerance	6523	SLC5A1	OMIM:606824
HP:0040270	Impaired glucose tolerance	3767	KCNJ11	ORPHA:552
HP:0040270	Impaired glucose tolerance	3767	KCNJ11	ORPHA:276580
HP:0040270	Impaired glucose tolerance	8462	KLF11	ORPHA:552
HP:0040270	Impaired glucose tolerance	2645	GCK	ORPHA:552
HP:0040270	Impaired glucose tolerance	26060	APPL1	ORPHA:552
HP:0040270	Impaired glucose tolerance	640	BLK	ORPHA:552
HP:0040270	Impaired glucose tolerance	1056	CEL	ORPHA:552
HP:0040270	Impaired glucose tolerance	4760	NEUROD1	ORPHA:552
HP:0040270	Impaired glucose tolerance	3651	PDX1	ORPHA:552
HP:0040270	Impaired glucose tolerance	6833	ABCC8	ORPHA:552
HP:0040270	Impaired glucose tolerance	5078	PAX4	ORPHA:552
HP:0040270	Impaired glucose tolerance	3172	HNF4A	ORPHA:552
HP:0040270	Impaired glucose tolerance	6927	HNF1A	ORPHA:552
HP:0040270	Impaired glucose tolerance	3630	INS	ORPHA:552
HP:0040270	Impaired glucose tolerance	6524	SLC5A2	ORPHA:69076
HP:0040270	Impaired glucose tolerance	857	CAV1	OMIM:606721
HP:0040270	Impaired glucose tolerance	84196	USP48	ORPHA:96253
HP:0040270	Impaired glucose tolerance	7157	TP53	ORPHA:96253
HP:0040270	Impaired glucose tolerance	9101	USP8	ORPHA:96253
HP:0040270	Impaired glucose tolerance	9101	USP8	OMIM:219090
HP:0040270	Impaired glucose tolerance	64072	CDH23	ORPHA:96253
HP:0040270	Impaired glucose tolerance	2908	NR3C1	ORPHA:96253
HP:0040270	Impaired glucose tolerance	673	BRAF	ORPHA:96253
HP:0040270	Impaired glucose tolerance	546	ATRX	ORPHA:96253
HP:0040270	Impaired glucose tolerance	286053	NSMCE2	OMIM:617253
HP:0040270	Impaired glucose tolerance	6928	HNF1B	OMIM:137920
HP:0040270	Impaired glucose tolerance	7466	WFS1	OMIM:614296
HP:0040270	Impaired glucose tolerance	2099	ESR1	OMIM:615363
HP:0040270	Impaired glucose tolerance	11232	POLG2	OMIM:610131
HP:0040270	Impaired glucose tolerance	26160	IFT172	OMIM:615630
HP:0040270	Impaired glucose tolerance	389692	MAFA	OMIM:147630
HP:0040270	Impaired glucose tolerance	9049	AIP	OMIM:219090
HP:0040270	Impaired glucose tolerance	4000	LMNA	OMIM:248370
HP:0040270	Impaired glucose tolerance	6514	SLC2A2	ORPHA:2088
HP:0040270	Impaired glucose tolerance	3643	INSR	ORPHA:769
HP:0040270	Impaired glucose tolerance	5696	PSMB8	OMIM:256040
HP:0040270	Impaired glucose tolerance	30061	SLC40A1	OMIM:606069
HP:0040270	Impaired glucose tolerance	4040	LRP6	OMIM:610947
HP:0030059	Mitochondrial depletion	4703	NEB	OMIM:256030
HP:0030059	Mitochondrial depletion	7273	TTN	OMIM:611705
HP:0040272	Hyperintensity of MRI T2 signal of the spinal cord	28982	FLVCR1	OMIM:609033
HP:0040273	Adenocarcinoma of the intestines	4436	MSH2	OMIM:158320
HP:0040273	Adenocarcinoma of the intestines	324	APC	OMIM:175100
HP:0040273	Adenocarcinoma of the intestines	324	APC	ORPHA:247806
HP:0040273	Adenocarcinoma of the intestines	4913	NTHL1	OMIM:616415
HP:0040273	Adenocarcinoma of the intestines	4913	NTHL1	ORPHA:454840
HP:0040273	Adenocarcinoma of the intestines	4089	SMAD4	OMIM:174900
HP:0040273	Adenocarcinoma of the intestines	4292	MLH1	OMIM:276300
HP:0040273	Adenocarcinoma of the intestines	7373	COL14A1	ORPHA:79501
HP:0040273	Adenocarcinoma of the intestines	79719	AAGAB	ORPHA:79501
HP:0040273	Adenocarcinoma of the intestines	2859	GPR35	ORPHA:171
HP:0040273	Adenocarcinoma of the intestines	10507	SEMA4D	ORPHA:171
HP:0040273	Adenocarcinoma of the intestines	4485	MST1	ORPHA:171
HP:0040273	Adenocarcinoma of the intestines	6925	TCF4	ORPHA:171
HP:0040273	Adenocarcinoma of the intestines	4595	MUTYH	ORPHA:247798
HP:0040273	Adenocarcinoma of the intestines	6135	RPL11	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6138	RPL15	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6229	RPS24	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6125	RPL5	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6204	RPS10	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6224	RPS20	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6165	RPL35A	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	2623	GATA1	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6223	RPS19	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6232	RPS27	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6231	RPS26	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	11224	RPL35	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6160	RPL31	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6218	RPS17	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6201	RPS7	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6155	RPL27	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6154	RPL26	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6210	RPS15A	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	90121	TSR2	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6141	RPL18	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6235	RPS29	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	6234	RPS28	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	51816	ADA2	ORPHA:124
HP:0040273	Adenocarcinoma of the intestines	5426	POLE	ORPHA:447877
HP:0040273	Adenocarcinoma of the intestines	5424	POLD1	ORPHA:447877
HP:0040273	Adenocarcinoma of the intestines	26585	GREM1	ORPHA:157794
HP:0040273	Adenocarcinoma of the intestines	657	BMPR1A	ORPHA:157794
HP:0040274	Adenocarcinoma of the small intestine	4436	MSH2	OMIM:158320
HP:0040274	Adenocarcinoma of the small intestine	324	APC	OMIM:175100
HP:0040274	Adenocarcinoma of the small intestine	324	APC	ORPHA:247806
HP:0040274	Adenocarcinoma of the small intestine	4913	NTHL1	OMIM:616415
HP:0040274	Adenocarcinoma of the small intestine	4913	NTHL1	ORPHA:454840
HP:0040274	Adenocarcinoma of the small intestine	4089	SMAD4	OMIM:174900
HP:0040274	Adenocarcinoma of the small intestine	657	BMPR1A	OMIM:174900
HP:0040274	Adenocarcinoma of the small intestine	657	BMPR1A	ORPHA:157794
HP:0040274	Adenocarcinoma of the small intestine	26585	GREM1	ORPHA:157794
HP:0040274	Adenocarcinoma of the small intestine	4292	MLH1	OMIM:276300
HP:0040274	Adenocarcinoma of the small intestine	7373	COL14A1	ORPHA:79501
HP:0040274	Adenocarcinoma of the small intestine	79719	AAGAB	ORPHA:79501
HP:0040275	Adenocarcinoma of the large intestine	2859	GPR35	ORPHA:171
HP:0040275	Adenocarcinoma of the large intestine	10507	SEMA4D	ORPHA:171
HP:0040275	Adenocarcinoma of the large intestine	4485	MST1	ORPHA:171
HP:0040275	Adenocarcinoma of the large intestine	6925	TCF4	ORPHA:171
HP:0040275	Adenocarcinoma of the large intestine	4595	MUTYH	ORPHA:247798
HP:0040275	Adenocarcinoma of the large intestine	6135	RPL11	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6138	RPL15	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6229	RPS24	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6125	RPL5	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6204	RPS10	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6224	RPS20	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6165	RPL35A	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	2623	GATA1	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6223	RPS19	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6232	RPS27	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6231	RPS26	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	11224	RPL35	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6160	RPL31	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6218	RPS17	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6201	RPS7	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6155	RPL27	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6154	RPL26	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6210	RPS15A	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	90121	TSR2	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6141	RPL18	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6235	RPS29	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	6234	RPS28	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	51816	ADA2	ORPHA:124
HP:0040275	Adenocarcinoma of the large intestine	5426	POLE	ORPHA:447877
HP:0040275	Adenocarcinoma of the large intestine	5424	POLD1	ORPHA:447877
HP:0040275	Adenocarcinoma of the large intestine	4292	MLH1	OMIM:276300
HP:0040275	Adenocarcinoma of the large intestine	7373	COL14A1	ORPHA:79501
HP:0040275	Adenocarcinoma of the large intestine	79719	AAGAB	ORPHA:79501
HP:0040275	Adenocarcinoma of the large intestine	26585	GREM1	ORPHA:157794
HP:0040275	Adenocarcinoma of the large intestine	657	BMPR1A	ORPHA:157794
HP:0040276	Adenocarcinoma of the colon	4595	MUTYH	ORPHA:247798
HP:0040276	Adenocarcinoma of the colon	6135	RPL11	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6138	RPL15	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6229	RPS24	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6125	RPL5	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6204	RPS10	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6224	RPS20	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6165	RPL35A	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	2623	GATA1	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6223	RPS19	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6232	RPS27	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6231	RPS26	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	11224	RPL35	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6160	RPL31	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6218	RPS17	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6201	RPS7	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6155	RPL27	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6154	RPL26	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6210	RPS15A	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	90121	TSR2	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6141	RPL18	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6235	RPS29	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	6234	RPS28	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	51816	ADA2	ORPHA:124
HP:0040276	Adenocarcinoma of the colon	5426	POLE	ORPHA:447877
HP:0040276	Adenocarcinoma of the colon	5424	POLD1	ORPHA:447877
HP:0040276	Adenocarcinoma of the colon	4292	MLH1	OMIM:276300
HP:0040276	Adenocarcinoma of the colon	7373	COL14A1	ORPHA:79501
HP:0040276	Adenocarcinoma of the colon	79719	AAGAB	ORPHA:79501
HP:0040276	Adenocarcinoma of the colon	26585	GREM1	ORPHA:157794
HP:0040276	Adenocarcinoma of the colon	657	BMPR1A	ORPHA:157794
HP:0040277	Neoplasm of the pituitary gland	5573	PRKAR1A	OMIM:160980
HP:0040277	Neoplasm of the pituitary gland	5573	PRKAR1A	ORPHA:189439
HP:0040277	Neoplasm of the pituitary gland	4221	MEN1	ORPHA:652
HP:0040277	Neoplasm of the pituitary gland	4221	MEN1	OMIM:131100
HP:0040277	Neoplasm of the pituitary gland	1027	CDKN1B	ORPHA:652
HP:0040277	Neoplasm of the pituitary gland	1027	CDKN1B	OMIM:610755
HP:0040277	Neoplasm of the pituitary gland	1027	CDKN1B	ORPHA:276152
HP:0040277	Neoplasm of the pituitary gland	1026	CDKN1A	ORPHA:652
HP:0040277	Neoplasm of the pituitary gland	1030	CDKN2B	ORPHA:652
HP:0040277	Neoplasm of the pituitary gland	1031	CDKN2C	ORPHA:652
HP:0040277	Neoplasm of the pituitary gland	2778	GNAS	OMIM:174800
HP:0040277	Neoplasm of the pituitary gland	2778	GNAS	ORPHA:189427
HP:0040277	Neoplasm of the pituitary gland	5566	PRKACA	ORPHA:189439
HP:0040277	Neoplasm of the pituitary gland	8622	PDE8B	ORPHA:189439
HP:0040277	Neoplasm of the pituitary gland	50940	PDE11A	ORPHA:189439
HP:0040277	Neoplasm of the pituitary gland	3458	IFNG	ORPHA:805
HP:0040277	Neoplasm of the pituitary gland	7248	TSC1	ORPHA:805
HP:0040277	Neoplasm of the pituitary gland	7249	TSC2	ORPHA:805
HP:0040277	Neoplasm of the pituitary gland	324	APC	ORPHA:99818
HP:0040277	Neoplasm of the pituitary gland	9049	AIP	OMIM:102200
HP:0040277	Neoplasm of the pituitary gland	9049	AIP	OMIM:219090
HP:0040277	Neoplasm of the pituitary gland	4072	EPCAM	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	4292	MLH1	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	5395	PMS2	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	27030	MLH3	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	22909	FAN1	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	7048	TGFBR2	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	3845	KRAS	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	5290	PIK3CA	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	2956	MSH6	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	5378	PMS1	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	4436	MSH2	ORPHA:144
HP:0040277	Neoplasm of the pituitary gland	83550	GPR101	OMIM:300943
HP:0040277	Neoplasm of the pituitary gland	83550	GPR101	OMIM:300942
HP:0040277	Neoplasm of the pituitary gland	64072	CDH23	OMIM:617540
HP:0040277	Neoplasm of the pituitary gland	64218	SEMA4A	ORPHA:440437
HP:0040277	Neoplasm of the pituitary gland	657	BMPR1A	ORPHA:440437
HP:0040277	Neoplasm of the pituitary gland	6224	RPS20	ORPHA:440437
HP:0040277	Neoplasm of the pituitary gland	79798	ARMC5	ORPHA:189427
HP:0040277	Neoplasm of the pituitary gland	9101	USP8	OMIM:219090
HP:0040277	Neoplasm of the pituitary gland	3418	IDH2	ORPHA:163634
HP:0040277	Neoplasm of the pituitary gland	3417	IDH1	ORPHA:163634
HP:0040277	Neoplasm of the pituitary gland	7528	YY1	ORPHA:97279
HP:0040277	Neoplasm of the pituitary gland	84196	USP48	ORPHA:96253
HP:0040277	Neoplasm of the pituitary gland	7157	TP53	ORPHA:96253
HP:0040277	Neoplasm of the pituitary gland	2908	NR3C1	ORPHA:96253
HP:0040277	Neoplasm of the pituitary gland	673	BRAF	ORPHA:96253
HP:0040277	Neoplasm of the pituitary gland	546	ATRX	ORPHA:96253
HP:0040277	Neoplasm of the pituitary gland	8314	BAP1	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	4771	NF2	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	5155	PDGFB	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	84231	TRAF7	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	6608	SMO	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	207	AKT1	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	7015	TERT	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	51684	SUFU	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0040277	Neoplasm of the pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0040277	Neoplasm of the pituitary gland	51726	DNAJB11	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	23193	GANAB	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	5310	PKD1	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	5311	PKD2	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	29880	ALG5	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	9742	IFT140	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	79796	ALG9	ORPHA:730
HP:0040277	Neoplasm of the pituitary gland	80114	BICC1	ORPHA:730
HP:0040278	Prolactinoma	4221	MEN1	OMIM:131100
HP:0040278	Prolactinoma	9049	AIP	OMIM:102200
HP:0030060	Nervous tissue neoplasm	4221	MEN1	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1027	CDKN1B	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1026	CDKN1A	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1030	CDKN2B	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1031	CDKN2C	ORPHA:652
HP:0030060	Nervous tissue neoplasm	65998	ZFTA	ORPHA:251636
HP:0030060	Nervous tissue neoplasm	5970	RELA	ORPHA:251636
HP:0030060	Nervous tissue neoplasm	26040	SETBP1	ORPHA:798
HP:0030060	Nervous tissue neoplasm	4763	NF1	OMIM:601321
HP:0030060	Nervous tissue neoplasm	7528	YY1	ORPHA:506358
HP:0030060	Nervous tissue neoplasm	2239	GPC4	ORPHA:373
HP:0030060	Nervous tissue neoplasm	2719	GPC3	ORPHA:373
HP:0030060	Nervous tissue neoplasm	6390	SDHB	OMIM:115310
HP:0030060	Nervous tissue neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	2563	GABRD	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	23013	SPEN	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	8510	MMP23B	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	7798	LUZP1	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	6497	SKI	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	10630	PDPN	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	3339	HSPG2	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	10277	UBE4B	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	473	RERE	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	63976	PRDM16	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	54897	CASZ1	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	5781	PTPN11	ORPHA:500
HP:0030060	Nervous tissue neoplasm	673	BRAF	ORPHA:500
HP:0030060	Nervous tissue neoplasm	5894	RAF1	ORPHA:500
HP:0030060	Nervous tissue neoplasm	64324	NSD1	ORPHA:821
HP:0030060	Nervous tissue neoplasm	29072	SETD2	ORPHA:821
HP:0030060	Nervous tissue neoplasm	10297	APC2	ORPHA:821
HP:0030060	Nervous tissue neoplasm	861	RUNX1	OMIM:601399
HP:0030060	Nervous tissue neoplasm	79728	PALB2	OMIM:610832
HP:0030060	Nervous tissue neoplasm	5979	RET	ORPHA:99803
HP:0030060	Nervous tissue neoplasm	429	ASCL1	ORPHA:99803
HP:0030060	Nervous tissue neoplasm	23476	BRD4	ORPHA:443167
HP:0030060	Nervous tissue neoplasm	256646	NUTM1	ORPHA:443167
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	OMIM:613013
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	ORPHA:661
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	ORPHA:2151
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	OMIM:209880
HP:0030060	Nervous tissue neoplasm	1908	EDN3	ORPHA:661
HP:0030060	Nervous tissue neoplasm	2668	GDNF	ORPHA:661
HP:0030060	Nervous tissue neoplasm	627	BDNF	ORPHA:661
HP:0030060	Nervous tissue neoplasm	283446	MYO1H	ORPHA:661
HP:0030060	Nervous tissue neoplasm	23095	KIF1B	OMIM:256700
HP:0030060	Nervous tissue neoplasm	203068	TUBB	ORPHA:2505
HP:0030060	Nervous tissue neoplasm	203068	TUBB	OMIM:156610
HP:0030060	Nervous tissue neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030060	Nervous tissue neoplasm	25913	POT1	OMIM:616568
HP:0030060	Nervous tissue neoplasm	4437	MSH3	OMIM:617100
HP:0030060	Nervous tissue neoplasm	4437	MSH3	ORPHA:480536
HP:0030060	Nervous tissue neoplasm	2260	FGFR1	OMIM:613001
HP:0030060	Nervous tissue neoplasm	3418	IDH2	ORPHA:163634
HP:0030060	Nervous tissue neoplasm	4771	NF2	ORPHA:637
HP:0030060	Nervous tissue neoplasm	4771	NF2	OMIM:101000
HP:0030060	Nervous tissue neoplasm	7249	TSC2	OMIM:613254
HP:0030060	Nervous tissue neoplasm	7249	TSC2	ORPHA:805
HP:0030060	Nervous tissue neoplasm	3458	IFNG	OMIM:613254
HP:0030060	Nervous tissue neoplasm	3458	IFNG	ORPHA:805
HP:0030060	Nervous tissue neoplasm	7248	TSC1	ORPHA:805
HP:0030060	Nervous tissue neoplasm	4683	NBN	OMIM:251260
HP:0030060	Nervous tissue neoplasm	4683	NBN	ORPHA:647
HP:0030060	Nervous tissue neoplasm	6608	SMO	OMIM:241800
HP:0030060	Nervous tissue neoplasm	161742	SPRED1	ORPHA:137605
HP:0030060	Nervous tissue neoplasm	5925	RB1	ORPHA:1587
HP:0030060	Nervous tissue neoplasm	5925	RB1	OMIM:180200
HP:0030060	Nervous tissue neoplasm	5925	RB1	OMIM:259500
HP:0030060	Nervous tissue neoplasm	7157	TP53	OMIM:259500
HP:0030060	Nervous tissue neoplasm	11200	CHEK2	OMIM:259500
HP:0030060	Nervous tissue neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	657	BMPR1A	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	6224	RPS20	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	4072	EPCAM	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4292	MLH1	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4292	MLH1	OMIM:276300
HP:0030060	Nervous tissue neoplasm	5395	PMS2	ORPHA:144
HP:0030060	Nervous tissue neoplasm	5395	PMS2	OMIM:619101
HP:0030060	Nervous tissue neoplasm	27030	MLH3	ORPHA:144
HP:0030060	Nervous tissue neoplasm	22909	FAN1	ORPHA:144
HP:0030060	Nervous tissue neoplasm	7048	TGFBR2	ORPHA:144
HP:0030060	Nervous tissue neoplasm	3845	KRAS	ORPHA:144
HP:0030060	Nervous tissue neoplasm	5290	PIK3CA	ORPHA:144
HP:0030060	Nervous tissue neoplasm	2956	MSH6	ORPHA:144
HP:0030060	Nervous tissue neoplasm	2956	MSH6	OMIM:619097
HP:0030060	Nervous tissue neoplasm	5378	PMS1	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4436	MSH2	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4436	MSH2	OMIM:619096
HP:0030060	Nervous tissue neoplasm	324	APC	ORPHA:99818
HP:0030060	Nervous tissue neoplasm	675	BRCA2	OMIM:613029
HP:0030060	Nervous tissue neoplasm	2064	ERBB2	OMIM:137800
HP:0030060	Nervous tissue neoplasm	3417	IDH1	OMIM:137800
HP:0030060	Nervous tissue neoplasm	1029	CDKN2A	ORPHA:524
HP:0030060	Nervous tissue neoplasm	4193	MDM2	ORPHA:524
HP:0030060	Nervous tissue neoplasm	3481	IGF2	OMIM:180860
HP:0030060	Nervous tissue neoplasm	2313	FLI1	ORPHA:370348
HP:0030060	Nervous tissue neoplasm	9817	KEAP1	ORPHA:276399
HP:0030060	Nervous tissue neoplasm	23405	DICER1	ORPHA:276399
HP:0030061	Neuroectodermal neoplasm	4221	MEN1	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1027	CDKN1B	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1026	CDKN1A	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1030	CDKN2B	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1031	CDKN2C	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	65998	ZFTA	ORPHA:251636
HP:0030061	Neuroectodermal neoplasm	5970	RELA	ORPHA:251636
HP:0030061	Neuroectodermal neoplasm	26040	SETBP1	ORPHA:798
HP:0030061	Neuroectodermal neoplasm	4763	NF1	OMIM:601321
HP:0030061	Neuroectodermal neoplasm	7528	YY1	ORPHA:506358
HP:0030061	Neuroectodermal neoplasm	2239	GPC4	ORPHA:373
HP:0030061	Neuroectodermal neoplasm	2719	GPC3	ORPHA:373
HP:0030061	Neuroectodermal neoplasm	6390	SDHB	OMIM:115310
HP:0030061	Neuroectodermal neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	2563	GABRD	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	23013	SPEN	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	8510	MMP23B	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	7798	LUZP1	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	6497	SKI	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	10630	PDPN	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	3339	HSPG2	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	10277	UBE4B	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	473	RERE	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	63976	PRDM16	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	54897	CASZ1	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	5781	PTPN11	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	673	BRAF	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	5894	RAF1	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	64324	NSD1	ORPHA:821
HP:0030061	Neuroectodermal neoplasm	29072	SETD2	ORPHA:821
HP:0030061	Neuroectodermal neoplasm	10297	APC2	ORPHA:821
HP:0030061	Neuroectodermal neoplasm	861	RUNX1	OMIM:601399
HP:0030061	Neuroectodermal neoplasm	79728	PALB2	OMIM:610832
HP:0030061	Neuroectodermal neoplasm	5979	RET	ORPHA:99803
HP:0030061	Neuroectodermal neoplasm	429	ASCL1	ORPHA:99803
HP:0030061	Neuroectodermal neoplasm	23476	BRD4	ORPHA:443167
HP:0030061	Neuroectodermal neoplasm	256646	NUTM1	ORPHA:443167
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	OMIM:613013
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	ORPHA:2151
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	OMIM:209880
HP:0030061	Neuroectodermal neoplasm	1908	EDN3	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	2668	GDNF	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	627	BDNF	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	283446	MYO1H	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	23095	KIF1B	OMIM:256700
HP:0030061	Neuroectodermal neoplasm	203068	TUBB	ORPHA:2505
HP:0030061	Neuroectodermal neoplasm	203068	TUBB	OMIM:156610
HP:0030061	Neuroectodermal neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030061	Neuroectodermal neoplasm	25913	POT1	OMIM:616568
HP:0030061	Neuroectodermal neoplasm	4437	MSH3	OMIM:617100
HP:0030061	Neuroectodermal neoplasm	4437	MSH3	ORPHA:480536
HP:0030061	Neuroectodermal neoplasm	2260	FGFR1	OMIM:613001
HP:0030061	Neuroectodermal neoplasm	3418	IDH2	ORPHA:163634
HP:0030061	Neuroectodermal neoplasm	4771	NF2	ORPHA:637
HP:0030061	Neuroectodermal neoplasm	4771	NF2	OMIM:101000
HP:0030061	Neuroectodermal neoplasm	7249	TSC2	OMIM:613254
HP:0030061	Neuroectodermal neoplasm	7249	TSC2	ORPHA:805
HP:0030061	Neuroectodermal neoplasm	3458	IFNG	OMIM:613254
HP:0030061	Neuroectodermal neoplasm	3458	IFNG	ORPHA:805
HP:0030061	Neuroectodermal neoplasm	7248	TSC1	ORPHA:805
HP:0030061	Neuroectodermal neoplasm	4683	NBN	OMIM:251260
HP:0030061	Neuroectodermal neoplasm	4683	NBN	ORPHA:647
HP:0030061	Neuroectodermal neoplasm	6608	SMO	OMIM:241800
HP:0030061	Neuroectodermal neoplasm	161742	SPRED1	ORPHA:137605
HP:0030061	Neuroectodermal neoplasm	5925	RB1	ORPHA:1587
HP:0030061	Neuroectodermal neoplasm	5925	RB1	OMIM:180200
HP:0030061	Neuroectodermal neoplasm	5925	RB1	OMIM:259500
HP:0030061	Neuroectodermal neoplasm	7157	TP53	OMIM:259500
HP:0030061	Neuroectodermal neoplasm	11200	CHEK2	OMIM:259500
HP:0030061	Neuroectodermal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	657	BMPR1A	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	6224	RPS20	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	4072	EPCAM	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4292	MLH1	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4292	MLH1	OMIM:276300
HP:0030061	Neuroectodermal neoplasm	5395	PMS2	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	5395	PMS2	OMIM:619101
HP:0030061	Neuroectodermal neoplasm	27030	MLH3	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	22909	FAN1	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	7048	TGFBR2	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	3845	KRAS	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	5290	PIK3CA	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	2956	MSH6	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	2956	MSH6	OMIM:619097
HP:0030061	Neuroectodermal neoplasm	5378	PMS1	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4436	MSH2	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4436	MSH2	OMIM:619096
HP:0030061	Neuroectodermal neoplasm	324	APC	ORPHA:99818
HP:0030061	Neuroectodermal neoplasm	675	BRCA2	OMIM:613029
HP:0030061	Neuroectodermal neoplasm	2064	ERBB2	OMIM:137800
HP:0030061	Neuroectodermal neoplasm	3417	IDH1	OMIM:137800
HP:0030061	Neuroectodermal neoplasm	1029	CDKN2A	ORPHA:524
HP:0030061	Neuroectodermal neoplasm	4193	MDM2	ORPHA:524
HP:0030061	Neuroectodermal neoplasm	3481	IGF2	OMIM:180860
HP:0030061	Neuroectodermal neoplasm	2313	FLI1	ORPHA:370348
HP:0030061	Neuroectodermal neoplasm	9817	KEAP1	ORPHA:276399
HP:0030061	Neuroectodermal neoplasm	23405	DICER1	ORPHA:276399
HP:0030062	Craniopharyngioma	3481	IGF2	OMIM:180860
HP:0030063	Neuroepithelial neoplasm	4221	MEN1	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1027	CDKN1B	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1026	CDKN1A	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1030	CDKN2B	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1031	CDKN2C	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	65998	ZFTA	ORPHA:251636
HP:0030063	Neuroepithelial neoplasm	5970	RELA	ORPHA:251636
HP:0030063	Neuroepithelial neoplasm	26040	SETBP1	ORPHA:798
HP:0030063	Neuroepithelial neoplasm	4763	NF1	OMIM:601321
HP:0030063	Neuroepithelial neoplasm	7528	YY1	ORPHA:506358
HP:0030063	Neuroepithelial neoplasm	2239	GPC4	ORPHA:373
HP:0030063	Neuroepithelial neoplasm	2719	GPC3	ORPHA:373
HP:0030063	Neuroepithelial neoplasm	6390	SDHB	OMIM:115310
HP:0030063	Neuroepithelial neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	2563	GABRD	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	23013	SPEN	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	8510	MMP23B	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	7798	LUZP1	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	6497	SKI	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	10630	PDPN	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	3339	HSPG2	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	10277	UBE4B	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	473	RERE	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	63976	PRDM16	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	54897	CASZ1	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	5781	PTPN11	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	673	BRAF	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	5894	RAF1	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	64324	NSD1	ORPHA:821
HP:0030063	Neuroepithelial neoplasm	29072	SETD2	ORPHA:821
HP:0030063	Neuroepithelial neoplasm	10297	APC2	ORPHA:821
HP:0030063	Neuroepithelial neoplasm	861	RUNX1	OMIM:601399
HP:0030063	Neuroepithelial neoplasm	79728	PALB2	OMIM:610832
HP:0030063	Neuroepithelial neoplasm	5979	RET	ORPHA:99803
HP:0030063	Neuroepithelial neoplasm	429	ASCL1	ORPHA:99803
HP:0030063	Neuroepithelial neoplasm	23476	BRD4	ORPHA:443167
HP:0030063	Neuroepithelial neoplasm	256646	NUTM1	ORPHA:443167
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	OMIM:613013
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	ORPHA:2151
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	OMIM:209880
HP:0030063	Neuroepithelial neoplasm	1908	EDN3	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	2668	GDNF	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	627	BDNF	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	283446	MYO1H	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	23095	KIF1B	OMIM:256700
HP:0030063	Neuroepithelial neoplasm	203068	TUBB	ORPHA:2505
HP:0030063	Neuroepithelial neoplasm	203068	TUBB	OMIM:156610
HP:0030063	Neuroepithelial neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030063	Neuroepithelial neoplasm	25913	POT1	OMIM:616568
HP:0030063	Neuroepithelial neoplasm	4437	MSH3	OMIM:617100
HP:0030063	Neuroepithelial neoplasm	4437	MSH3	ORPHA:480536
HP:0030063	Neuroepithelial neoplasm	2260	FGFR1	OMIM:613001
HP:0030063	Neuroepithelial neoplasm	3418	IDH2	ORPHA:163634
HP:0030063	Neuroepithelial neoplasm	4771	NF2	ORPHA:637
HP:0030063	Neuroepithelial neoplasm	4771	NF2	OMIM:101000
HP:0030063	Neuroepithelial neoplasm	7249	TSC2	OMIM:613254
HP:0030063	Neuroepithelial neoplasm	7249	TSC2	ORPHA:805
HP:0030063	Neuroepithelial neoplasm	3458	IFNG	OMIM:613254
HP:0030063	Neuroepithelial neoplasm	3458	IFNG	ORPHA:805
HP:0030063	Neuroepithelial neoplasm	7248	TSC1	ORPHA:805
HP:0030063	Neuroepithelial neoplasm	4683	NBN	OMIM:251260
HP:0030063	Neuroepithelial neoplasm	4683	NBN	ORPHA:647
HP:0030063	Neuroepithelial neoplasm	6608	SMO	OMIM:241800
HP:0030063	Neuroepithelial neoplasm	161742	SPRED1	ORPHA:137605
HP:0030063	Neuroepithelial neoplasm	5925	RB1	ORPHA:1587
HP:0030063	Neuroepithelial neoplasm	5925	RB1	OMIM:180200
HP:0030063	Neuroepithelial neoplasm	5925	RB1	OMIM:259500
HP:0030063	Neuroepithelial neoplasm	7157	TP53	OMIM:259500
HP:0030063	Neuroepithelial neoplasm	11200	CHEK2	OMIM:259500
HP:0030063	Neuroepithelial neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	657	BMPR1A	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	6224	RPS20	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	4072	EPCAM	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4292	MLH1	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4292	MLH1	OMIM:276300
HP:0030063	Neuroepithelial neoplasm	5395	PMS2	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	5395	PMS2	OMIM:619101
HP:0030063	Neuroepithelial neoplasm	27030	MLH3	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	22909	FAN1	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	7048	TGFBR2	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	3845	KRAS	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	5290	PIK3CA	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	2956	MSH6	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	2956	MSH6	OMIM:619097
HP:0030063	Neuroepithelial neoplasm	5378	PMS1	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4436	MSH2	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4436	MSH2	OMIM:619096
HP:0030063	Neuroepithelial neoplasm	324	APC	ORPHA:99818
HP:0030063	Neuroepithelial neoplasm	675	BRCA2	OMIM:613029
HP:0030063	Neuroepithelial neoplasm	2064	ERBB2	OMIM:137800
HP:0030063	Neuroepithelial neoplasm	3417	IDH1	OMIM:137800
HP:0030063	Neuroepithelial neoplasm	1029	CDKN2A	ORPHA:524
HP:0030063	Neuroepithelial neoplasm	4193	MDM2	ORPHA:524
HP:0030063	Neuroepithelial neoplasm	2313	FLI1	ORPHA:370348
HP:0030063	Neuroepithelial neoplasm	9817	KEAP1	ORPHA:276399
HP:0030063	Neuroepithelial neoplasm	23405	DICER1	ORPHA:276399
HP:0030065	Primitive neuroectodermal tumor	4763	NF1	OMIM:601321
HP:0030065	Primitive neuroectodermal tumor	7528	YY1	ORPHA:506358
HP:0030065	Primitive neuroectodermal tumor	2239	GPC4	ORPHA:373
HP:0030065	Primitive neuroectodermal tumor	2719	GPC3	ORPHA:373
HP:0030065	Primitive neuroectodermal tumor	6390	SDHB	OMIM:115310
HP:0030065	Primitive neuroectodermal tumor	5590	PRKCZ	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	2563	GABRD	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	23013	SPEN	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	8510	MMP23B	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	7798	LUZP1	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	6497	SKI	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	10630	PDPN	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	3339	HSPG2	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	10277	UBE4B	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	8514	KCNAB2	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	473	RERE	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	63976	PRDM16	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	54897	CASZ1	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	4292	MLH1	OMIM:276300
HP:0030065	Primitive neuroectodermal tumor	4292	MLH1	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5781	PTPN11	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	673	BRAF	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	5894	RAF1	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	64324	NSD1	ORPHA:821
HP:0030065	Primitive neuroectodermal tumor	29072	SETD2	ORPHA:821
HP:0030065	Primitive neuroectodermal tumor	10297	APC2	ORPHA:821
HP:0030065	Primitive neuroectodermal tumor	861	RUNX1	OMIM:601399
HP:0030065	Primitive neuroectodermal tumor	4072	EPCAM	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5395	PMS2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	27030	MLH3	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	22909	FAN1	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	7048	TGFBR2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	3845	KRAS	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5290	PIK3CA	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	2956	MSH6	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5378	PMS1	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	4436	MSH2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	64218	SEMA4A	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	657	BMPR1A	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	6224	RPS20	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	79728	PALB2	OMIM:610832
HP:0030065	Primitive neuroectodermal tumor	5979	RET	ORPHA:99803
HP:0030065	Primitive neuroectodermal tumor	429	ASCL1	ORPHA:99803
HP:0030065	Primitive neuroectodermal tumor	23476	BRD4	ORPHA:443167
HP:0030065	Primitive neuroectodermal tumor	256646	NUTM1	ORPHA:443167
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	OMIM:613013
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	ORPHA:2151
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	OMIM:209880
HP:0030065	Primitive neuroectodermal tumor	1908	EDN3	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	2668	GDNF	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	627	BDNF	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	283446	MYO1H	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	23095	KIF1B	OMIM:256700
HP:0030065	Primitive neuroectodermal tumor	203068	TUBB	ORPHA:2505
HP:0030065	Primitive neuroectodermal tumor	203068	TUBB	OMIM:156610
HP:0030065	Primitive neuroectodermal tumor	10982	MAPRE2	ORPHA:2505
HP:0030065	Primitive neuroectodermal tumor	2313	FLI1	ORPHA:370348
HP:0030065	Primitive neuroectodermal tumor	7157	TP53	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	1029	CDKN2A	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	4193	MDM2	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	11200	CHEK2	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	9817	KEAP1	ORPHA:276399
HP:0030065	Primitive neuroectodermal tumor	23405	DICER1	ORPHA:276399
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4763	NF1	OMIM:601321
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7528	YY1	ORPHA:506358
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2239	GPC4	ORPHA:373
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2719	GPC3	ORPHA:373
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6390	SDHB	OMIM:115310
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2563	GABRD	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23013	SPEN	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8510	MMP23B	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7798	LUZP1	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6497	SKI	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10630	PDPN	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	3339	HSPG2	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10277	UBE4B	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	473	RERE	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	63976	PRDM16	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	54897	CASZ1	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4292	MLH1	OMIM:276300
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4292	MLH1	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5781	PTPN11	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	673	BRAF	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5894	RAF1	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	64324	NSD1	ORPHA:821
HP:0030067	Peripheral primitive neuroectodermal neoplasm	29072	SETD2	ORPHA:821
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10297	APC2	ORPHA:821
HP:0030067	Peripheral primitive neuroectodermal neoplasm	861	RUNX1	OMIM:601399
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4072	EPCAM	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5395	PMS2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	27030	MLH3	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	22909	FAN1	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7048	TGFBR2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	3845	KRAS	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5290	PIK3CA	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2956	MSH6	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5378	PMS1	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4436	MSH2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	657	BMPR1A	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6224	RPS20	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	79728	PALB2	OMIM:610832
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5979	RET	ORPHA:99803
HP:0030067	Peripheral primitive neuroectodermal neoplasm	429	ASCL1	ORPHA:99803
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23476	BRD4	ORPHA:443167
HP:0030067	Peripheral primitive neuroectodermal neoplasm	256646	NUTM1	ORPHA:443167
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	OMIM:613013
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	ORPHA:2151
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	OMIM:209880
HP:0030067	Peripheral primitive neuroectodermal neoplasm	1908	EDN3	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2668	GDNF	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	627	BDNF	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	283446	MYO1H	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23095	KIF1B	OMIM:256700
HP:0030067	Peripheral primitive neuroectodermal neoplasm	203068	TUBB	ORPHA:2505
HP:0030067	Peripheral primitive neuroectodermal neoplasm	203068	TUBB	OMIM:156610
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2313	FLI1	ORPHA:370348
HP:0040286	Abnormal axial muscle morphology	4137	MAPT	ORPHA:240085
HP:0040286	Abnormal axial muscle morphology	4137	MAPT	ORPHA:240071
HP:0040286	Abnormal axial muscle morphology	5339	PLEC	ORPHA:254361
HP:0040287	Axial muscle atrophy	5339	PLEC	ORPHA:254361
HP:0040288	Nasogastric tube feeding	4841	NONO	ORPHA:466791
HP:0040288	Nasogastric tube feeding	7809	BSND	ORPHA:89938
HP:0040288	Nasogastric tube feeding	1188	CLCNKB	ORPHA:89938
HP:0040288	Nasogastric tube feeding	1187	CLCNKA	ORPHA:89938
HP:0040288	Nasogastric tube feeding	85365	ALG2	OMIM:607906
HP:0040288	Nasogastric tube feeding	215	ABCD1	ORPHA:139396
HP:0040288	Nasogastric tube feeding	55037	PTCD3	OMIM:619057
HP:0040288	Nasogastric tube feeding	50943	FOXP3	ORPHA:37042
HP:0040288	Nasogastric tube feeding	9401	RECQL4	ORPHA:221016
HP:0040288	Nasogastric tube feeding	54551	MAGEL2	ORPHA:398069
HP:0040288	Nasogastric tube feeding	7355	SLC35A2	ORPHA:356961
HP:0040288	Nasogastric tube feeding	8818	DPM2	ORPHA:329178
HP:0040288	Nasogastric tube feeding	51322	WAC	ORPHA:466950
HP:0040288	Nasogastric tube feeding	378884	NHLRC1	ORPHA:501
HP:0040288	Nasogastric tube feeding	7957	EPM2A	ORPHA:501
HP:0040288	Nasogastric tube feeding	5293	PIK3CD	ORPHA:221139
HP:0040288	Nasogastric tube feeding	90417	KNSTRN	ORPHA:221139
HP:0040288	Nasogastric tube feeding	9526	MPDU1	ORPHA:79323
HP:0040288	Nasogastric tube feeding	5354	PLP1	ORPHA:280210
HP:0040288	Nasogastric tube feeding	197322	ACSF3	ORPHA:289504
HP:0040288	Nasogastric tube feeding	29968	PSAT1	ORPHA:284417
HP:0040288	Nasogastric tube feeding	55610	VPS50	OMIM:619685
HP:0040288	Nasogastric tube feeding	374879	ZNF699	OMIM:619488
HP:0040288	Nasogastric tube feeding	79587	CARS2	ORPHA:477774
HP:0040288	Nasogastric tube feeding	80816	ASXL3	OMIM:615485
HP:0040288	Nasogastric tube feeding	57520	HECW2	OMIM:617268
HP:0040288	Nasogastric tube feeding	51305	KCNK9	ORPHA:166108
HP:0040288	Nasogastric tube feeding	56947	MFF	ORPHA:485421
HP:0040288	Nasogastric tube feeding	10157	AASS	ORPHA:2203
HP:0040288	Nasogastric tube feeding	6492	SIM1	ORPHA:398079
HP:0040288	Nasogastric tube feeding	55690	PACS1	ORPHA:329224
HP:0040288	Nasogastric tube feeding	112939	NACC1	ORPHA:500545
HP:0040288	Nasogastric tube feeding	2783	GNB2	OMIM:619503
HP:0040288	Nasogastric tube feeding	4632	MYL1	OMIM:618414
HP:0040288	Nasogastric tube feeding	10847	SRCAP	ORPHA:2044
HP:0040288	Nasogastric tube feeding	7841	MOGS	ORPHA:79330
HP:0040288	Nasogastric tube feeding	443	ASPA	ORPHA:314911
HP:0040288	Nasogastric tube feeding	2902	GRIN1	ORPHA:208447
HP:0040288	Nasogastric tube feeding	1288	COL4A6	ORPHA:1018
HP:0040288	Nasogastric tube feeding	1287	COL4A5	ORPHA:1018
HP:0040288	Nasogastric tube feeding	64682	ANAPC1	ORPHA:221008
HP:0040289	Cyclic neutropenia	6901	TAFAZZIN	OMIM:302060
HP:0040289	Cyclic neutropenia	1991	ELANE	OMIM:162800
HP:0040289	Cyclic neutropenia	1991	ELANE	ORPHA:2686
HP:0040289	Cyclic neutropenia	2542	SLC37A4	OMIM:232240
HP:0030070	Central primitive neuroectodermal tumor	7157	TP53	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	1029	CDKN2A	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	4193	MDM2	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	11200	CHEK2	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	9817	KEAP1	ORPHA:276399
HP:0030070	Central primitive neuroectodermal tumor	23405	DICER1	ORPHA:276399
HP:0030071	Medulloepithelioma	9817	KEAP1	ORPHA:276399
HP:0030071	Medulloepithelioma	23405	DICER1	ORPHA:276399
HP:0030072	Paranasal sinus neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0030072	Paranasal sinus neoplasm	50940	PDE11A	ORPHA:1359
HP:0030074	Chemodectoma	54949	SDHAF2	OMIM:601650
HP:0030074	Chemodectoma	6392	SDHD	OMIM:168000
HP:0030074	Chemodectoma	6390	SDHB	OMIM:115310
HP:0030074	Chemodectoma	6391	SDHC	OMIM:605373
HP:0030075	Ductal carcinoma in situ	10483	SEC23B	OMIM:616858
HP:0030075	Ductal carcinoma in situ	8930	MBD4	OMIM:619975
HP:0030075	Ductal carcinoma in situ	5573	PRKAR1A	ORPHA:1359
HP:0030075	Ductal carcinoma in situ	50940	PDE11A	ORPHA:1359
HP:0030078	Lung adenocarcinoma	7157	TP53	OMIM:151623
HP:0030078	Lung adenocarcinoma	7157	TP53	ORPHA:1501
HP:0030078	Lung adenocarcinoma	137682	NDUFAF6	OMIM:618913
HP:0030078	Lung adenocarcinoma	8314	BAP1	OMIM:614327
HP:0030078	Lung adenocarcinoma	5071	PRKN	OMIM:211980
HP:0030078	Lung adenocarcinoma	3845	KRAS	OMIM:211980
HP:0030078	Lung adenocarcinoma	3659	IRF1	OMIM:211980
HP:0030078	Lung adenocarcinoma	5002	SLC22A18	OMIM:211980
HP:0030078	Lung adenocarcinoma	2074	ERCC6	OMIM:211980
HP:0030078	Lung adenocarcinoma	5290	PIK3CA	OMIM:211980
HP:0030078	Lung adenocarcinoma	1956	EGFR	OMIM:211980
HP:0030078	Lung adenocarcinoma	1548	CYP2A6	OMIM:211980
HP:0030078	Lung adenocarcinoma	2064	ERBB2	OMIM:211980
HP:0030078	Lung adenocarcinoma	356	FASLG	OMIM:211980
HP:0030078	Lung adenocarcinoma	5519	PPP2R1B	OMIM:211980
HP:0030078	Lung adenocarcinoma	841	CASP8	OMIM:211980
HP:0030078	Lung adenocarcinoma	1326	MAP3K8	OMIM:211980
HP:0030078	Lung adenocarcinoma	673	BRAF	OMIM:211980
HP:0030078	Lung adenocarcinoma	84133	ZNRF3	ORPHA:1501
HP:0030078	Lung adenocarcinoma	5573	PRKAR1A	ORPHA:1501
HP:0030078	Lung adenocarcinoma	1499	CTNNB1	ORPHA:1501
HP:0030078	Lung adenocarcinoma	1029	CDKN2A	ORPHA:1501
HP:0030078	Lung adenocarcinoma	7015	TERT	ORPHA:1501
HP:0040291	Skeletal muscle steatosis	84334	COA8	ORPHA:436271
HP:0040293	Right hemiplegia	27235	COQ2	OMIM:607426
HP:0040296	Abnormal location of the eyebrow	6857	SYT1	ORPHA:522077
HP:0040299	Decreased circulating free fatty acid level	7351	UCP2	ORPHA:276556
HP:0040299	Decreased circulating free fatty acid level	6927	HNF1A	ORPHA:324575
HP:0040299	Decreased circulating free fatty acid level	6833	ABCC8	ORPHA:276575
HP:0040299	Decreased circulating free fatty acid level	3767	KCNJ11	ORPHA:79644
HP:0030079	Cervix cancer	6736	SRY	ORPHA:1772
HP:0030079	Cervix cancer	6794	STK11	ORPHA:2869
HP:0030079	Cervix cancer	7852	CXCR4	ORPHA:51636
HP:0030079	Cervix cancer	2261	FGFR3	OMIM:603956
HP:0030079	Cervix cancer	1027	CDKN1B	ORPHA:276152
HP:0030080	Burkitt lymphoma	399	RHOH	OMIM:618307
HP:0030080	Burkitt lymphoma	355	FAS	ORPHA:3261
HP:0030080	Burkitt lymphoma	356	FASLG	ORPHA:3261
HP:0030080	Burkitt lymphoma	5580	PRKCD	ORPHA:3261
HP:0030080	Burkitt lymphoma	843	CASP10	ORPHA:3261
HP:0030080	Burkitt lymphoma	10125	RASGRP1	ORPHA:3261
HP:0030080	Burkitt lymphoma	4773	NFATC2	OMIM:620232
HP:0030080	Burkitt lymphoma	331	XIAP	OMIM:308240
HP:0030080	Burkitt lymphoma	4068	SH2D1A	OMIM:308240
HP:0030080	Burkitt lymphoma	4609	MYC	OMIM:113970
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309271
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309263
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309256
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309271
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309263
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309256
HP:0030081	Punctate periventricular T2 hyperintense foci	1267	CNP	OMIM:619071
HP:0030081	Punctate periventricular T2 hyperintense foci	2760	GM2A	ORPHA:309246
HP:0030082	Abnormal drinking behavior	261734	NPHP4	OMIM:606996
HP:0030082	Abnormal drinking behavior	261734	NPHP4	OMIM:606966
HP:0030082	Abnormal drinking behavior	1497	CTNS	OMIM:219800
HP:0030082	Abnormal drinking behavior	1497	CTNS	ORPHA:411629
HP:0030082	Abnormal drinking behavior	1497	CTNS	ORPHA:411634
HP:0030082	Abnormal drinking behavior	359	AQP2	OMIM:125800
HP:0030082	Abnormal drinking behavior	359	AQP2	ORPHA:223
HP:0030082	Abnormal drinking behavior	54585	LZTFL1	OMIM:615994
HP:0030082	Abnormal drinking behavior	493856	CISD2	ORPHA:3463
HP:0030082	Abnormal drinking behavior	7466	WFS1	ORPHA:3463
HP:0030082	Abnormal drinking behavior	6928	HNF1B	ORPHA:93111
HP:0030082	Abnormal drinking behavior	554	AVPR2	ORPHA:223
HP:0030082	Abnormal drinking behavior	554	AVPR2	OMIM:304800
HP:0030082	Abnormal drinking behavior	3766	KCNJ10	ORPHA:199343
HP:0030082	Abnormal drinking behavior	3766	KCNJ10	OMIM:612780
HP:0030082	Abnormal drinking behavior	79577	CDC73	ORPHA:143
HP:0030082	Abnormal drinking behavior	79577	CDC73	ORPHA:99880
HP:0030082	Abnormal drinking behavior	4867	NPHP1	OMIM:266900
HP:0030082	Abnormal drinking behavior	4867	NPHP1	OMIM:256100
HP:0030082	Abnormal drinking behavior	51473	DCDC2	ORPHA:84081
HP:0030082	Abnormal drinking behavior	91147	TMEM67	ORPHA:84081
HP:0030082	Abnormal drinking behavior	91147	TMEM67	OMIM:613550
HP:0030082	Abnormal drinking behavior	10686	CLDN16	OMIM:248250
HP:0030082	Abnormal drinking behavior	3662	IRF4	ORPHA:3452
HP:0030082	Abnormal drinking behavior	199221	DZIP1L	ORPHA:731
HP:0030082	Abnormal drinking behavior	5314	PKHD1	ORPHA:731
HP:0030082	Abnormal drinking behavior	9071	CLDN10	OMIM:617671
HP:0030082	Abnormal drinking behavior	9365	KL	OMIM:617994
HP:0030082	Abnormal drinking behavior	114548	NLRP3	ORPHA:47045
HP:0030082	Abnormal drinking behavior	551	AVP	ORPHA:30925
HP:0030082	Abnormal drinking behavior	3762	KCNJ5	OMIM:613677
HP:0030082	Abnormal drinking behavior	3762	KCNJ5	ORPHA:251274
HP:0030082	Abnormal drinking behavior	3643	INSR	ORPHA:769
HP:0030082	Abnormal drinking behavior	1584	CYP11B1	ORPHA:403
HP:0030082	Abnormal drinking behavior	1585	CYP11B2	ORPHA:403
HP:0030082	Abnormal drinking behavior	3291	HSD11B2	ORPHA:320
HP:0030082	Abnormal drinking behavior	7809	BSND	OMIM:602522
HP:0030082	Abnormal drinking behavior	26191	PTPN22	OMIM:222100
HP:0030082	Abnormal drinking behavior	3710	ITPR3	OMIM:222100
HP:0030082	Abnormal drinking behavior	3569	IL6	OMIM:222100
HP:0030082	Abnormal drinking behavior	6927	HNF1A	OMIM:222100
HP:0030082	Abnormal drinking behavior	776	CACNA1D	ORPHA:369929
HP:0030082	Abnormal drinking behavior	254428	SLC41A1	OMIM:619468
HP:0030082	Abnormal drinking behavior	3758	KCNJ1	OMIM:241200
HP:0030082	Abnormal drinking behavior	9860	LRIG2	ORPHA:2704
HP:0030082	Abnormal drinking behavior	60495	HPSE2	ORPHA:2704
HP:0030082	Abnormal drinking behavior	6559	SLC12A3	OMIM:263800
HP:0030082	Abnormal drinking behavior	6559	SLC12A3	ORPHA:358
HP:0030082	Abnormal drinking behavior	27241	BBS9	OMIM:615986
HP:0030082	Abnormal drinking behavior	27031	NPHP3	OMIM:604387
HP:0030082	Abnormal drinking behavior	2260	FGFR1	ORPHA:3157
HP:0030082	Abnormal drinking behavior	128674	PROKR2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	6657	SOX2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	6658	SOX3	ORPHA:3157
HP:0030082	Abnormal drinking behavior	9915	ARNT2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	8820	HESX1	ORPHA:3157
HP:0030082	Abnormal drinking behavior	5015	OTX2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	1188	CLCNKB	ORPHA:358
HP:0030082	Abnormal drinking behavior	846	CASR	OMIM:239200
HP:0030082	Abnormal drinking behavior	6524	SLC5A2	OMIM:233100
HP:0030082	Abnormal drinking behavior	7080	NKX2-1	ORPHA:209905
HP:0030083	Salt craving	3766	KCNJ10	ORPHA:199343
HP:0030083	Salt craving	3766	KCNJ10	OMIM:612780
HP:0030083	Salt craving	6559	SLC12A3	OMIM:263800
HP:0030083	Salt craving	6559	SLC12A3	ORPHA:358
HP:0030083	Salt craving	1188	CLCNKB	ORPHA:358
HP:0030084	Clinodactyly	2313	FLI1	ORPHA:2308
HP:0030084	Clinodactyly	6049	RNF6	ORPHA:99977
HP:0030084	Clinodactyly	7048	TGFBR2	ORPHA:99977
HP:0030084	Clinodactyly	51741	WWOX	ORPHA:99977
HP:0030084	Clinodactyly	9940	DLEC1	ORPHA:99977
HP:0030084	Clinodactyly	3762	KCNJ5	ORPHA:37553
HP:0030084	Clinodactyly	11253	MAN1B1	ORPHA:397941
HP:0030084	Clinodactyly	11253	MAN1B1	OMIM:614202
HP:0030084	Clinodactyly	340533	NEXMIF	OMIM:300912
HP:0030084	Clinodactyly	1139	CHRNA7	ORPHA:199318
HP:0030084	Clinodactyly	1139	CHRNA7	OMIM:612001
HP:0030084	Clinodactyly	2132	EXT2	OMIM:616682
HP:0030084	Clinodactyly	23135	KDM6B	OMIM:618505
HP:0030084	Clinodactyly	1947	EFNB1	ORPHA:1520
HP:0030084	Clinodactyly	1947	EFNB1	OMIM:304110
HP:0030084	Clinodactyly	4010	LMX1B	ORPHA:2614
HP:0030084	Clinodactyly	4010	LMX1B	OMIM:161200
HP:0030084	Clinodactyly	10054	UBA2	OMIM:619959
HP:0030084	Clinodactyly	51126	NAA20	OMIM:619717
HP:0030084	Clinodactyly	2972	BRF1	OMIM:616202
HP:0030084	Clinodactyly	9820	CUL7	ORPHA:2616
HP:0030084	Clinodactyly	9820	CUL7	OMIM:273750
HP:0030084	Clinodactyly	83987	CCDC8	ORPHA:2616
HP:0030084	Clinodactyly	83987	CCDC8	OMIM:614205
HP:0030084	Clinodactyly	7021	TFAP2B	OMIM:169100
HP:0030084	Clinodactyly	7021	TFAP2B	ORPHA:46627
HP:0030084	Clinodactyly	7021	TFAP2B	OMIM:617035
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:231140
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:231144
HP:0030084	Clinodactyly	3481	IGF2	OMIM:616489
HP:0030084	Clinodactyly	3481	IGF2	OMIM:180860
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:397590
HP:0030084	Clinodactyly	283120	H19	ORPHA:231140
HP:0030084	Clinodactyly	283120	H19	ORPHA:231144
HP:0030084	Clinodactyly	197131	UBR1	OMIM:243800
HP:0030084	Clinodactyly	5932	RBBP8	OMIM:606744
HP:0030084	Clinodactyly	5932	RBBP8	ORPHA:808
HP:0030084	Clinodactyly	3021	H3-3B	OMIM:619721
HP:0030084	Clinodactyly	126792	B3GALT6	ORPHA:2725
HP:0030084	Clinodactyly	4286	MITF	OMIM:617306
HP:0030084	Clinodactyly	23384	SPECC1L	ORPHA:1519
HP:0030084	Clinodactyly	112752	IFT43	ORPHA:1515
HP:0030084	Clinodactyly	51098	IFT52	ORPHA:1515
HP:0030084	Clinodactyly	57728	WDR19	ORPHA:1515
HP:0030084	Clinodactyly	55636	CHD7	ORPHA:138
HP:0030084	Clinodactyly	9723	SEMA3E	ORPHA:138
HP:0030084	Clinodactyly	90	ACVR1	OMIM:135100
HP:0030084	Clinodactyly	90	ACVR1	ORPHA:337
HP:0030084	Clinodactyly	3190	HNRNPK	OMIM:616580
HP:0030084	Clinodactyly	10606	PAICS	OMIM:619859
HP:0030084	Clinodactyly	1009	CDH11	OMIM:619736
HP:0030084	Clinodactyly	7020	TFAP2A	OMIM:113620
HP:0030084	Clinodactyly	727857	BHLHA9	ORPHA:157801
HP:0030084	Clinodactyly	727857	BHLHA9	OMIM:609432
HP:0030084	Clinodactyly	652	BMP4	OMIM:607932
HP:0030084	Clinodactyly	23327	NEDD4L	OMIM:617201
HP:0030084	Clinodactyly	7291	TWIST1	OMIM:101400
HP:0030084	Clinodactyly	7291	TWIST1	ORPHA:794
HP:0030084	Clinodactyly	2783	GNB2	OMIM:619503
HP:0030084	Clinodactyly	3981	LIG4	ORPHA:235
HP:0030084	Clinodactyly	3981	LIG4	ORPHA:99812
HP:0030084	Clinodactyly	3981	LIG4	OMIM:606593
HP:0030084	Clinodactyly	54888	NSUN2	ORPHA:235
HP:0030084	Clinodactyly	1182	CLCN3	OMIM:619512
HP:0030084	Clinodactyly	85301	COL27A1	OMIM:615155
HP:0030084	Clinodactyly	5048	PAFAH1B1	ORPHA:217385
HP:0030084	Clinodactyly	5048	PAFAH1B1	ORPHA:531
HP:0030084	Clinodactyly	7531	YWHAE	ORPHA:217385
HP:0030084	Clinodactyly	7531	YWHAE	ORPHA:531
HP:0030084	Clinodactyly	2121	EVC	OMIM:193530
HP:0030084	Clinodactyly	2121	EVC	ORPHA:952
HP:0030084	Clinodactyly	132884	EVC2	OMIM:193530
HP:0030084	Clinodactyly	132884	EVC2	ORPHA:952
HP:0030084	Clinodactyly	8364	H4C3	OMIM:619758
HP:0030084	Clinodactyly	5590	PRKCZ	ORPHA:1606
HP:0030084	Clinodactyly	2563	GABRD	ORPHA:1606
HP:0030084	Clinodactyly	23013	SPEN	ORPHA:1606
HP:0030084	Clinodactyly	8510	MMP23B	ORPHA:1606
HP:0030084	Clinodactyly	7798	LUZP1	ORPHA:1606
HP:0030084	Clinodactyly	6497	SKI	ORPHA:1606
HP:0030084	Clinodactyly	10630	PDPN	ORPHA:1606
HP:0030084	Clinodactyly	3339	HSPG2	ORPHA:1606
HP:0030084	Clinodactyly	10277	UBE4B	ORPHA:1606
HP:0030084	Clinodactyly	8514	KCNAB2	ORPHA:1606
HP:0030084	Clinodactyly	473	RERE	ORPHA:1606
HP:0030084	Clinodactyly	473	RERE	OMIM:616975
HP:0030084	Clinodactyly	63976	PRDM16	ORPHA:1606
HP:0030084	Clinodactyly	54897	CASZ1	ORPHA:1606
HP:0030084	Clinodactyly	6134	RPL10	ORPHA:459070
HP:0030084	Clinodactyly	6134	RPL10	OMIM:300998
HP:0030084	Clinodactyly	7750	ZMYM2	OMIM:619522
HP:0030084	Clinodactyly	4849	CNOT3	OMIM:618672
HP:0030084	Clinodactyly	6942	TCF20	OMIM:618430
HP:0030084	Clinodactyly	641	BLM	OMIM:210900
HP:0030084	Clinodactyly	23314	SATB2	ORPHA:576283
HP:0030084	Clinodactyly	23314	SATB2	ORPHA:251028
HP:0030084	Clinodactyly	23314	SATB2	ORPHA:251019
HP:0030084	Clinodactyly	2719	GPC3	ORPHA:373
HP:0030084	Clinodactyly	23162	MAPK8IP3	OMIM:618443
HP:0030084	Clinodactyly	8200	GDF5	OMIM:615298
HP:0030084	Clinodactyly	8200	GDF5	OMIM:112600
HP:0030084	Clinodactyly	8200	GDF5	ORPHA:93396
HP:0030084	Clinodactyly	8200	GDF5	ORPHA:3250
HP:0030084	Clinodactyly	8200	GDF5	ORPHA:93384
HP:0030084	Clinodactyly	8200	GDF5	ORPHA:93388
HP:0030084	Clinodactyly	8200	GDF5	OMIM:113100
HP:0030084	Clinodactyly	23483	TGDS	OMIM:616145
HP:0030084	Clinodactyly	23483	TGDS	ORPHA:1388
HP:0030084	Clinodactyly	57479	PRR12	OMIM:619539
HP:0030084	Clinodactyly	25836	NIPBL	OMIM:122470
HP:0030084	Clinodactyly	25836	NIPBL	ORPHA:199
HP:0030084	Clinodactyly	2317	FLNB	OMIM:272460
HP:0030084	Clinodactyly	79087	ALG12	ORPHA:79324
HP:0030084	Clinodactyly	6473	SHOX	ORPHA:240
HP:0030084	Clinodactyly	1387	CREBBP	OMIM:618332
HP:0030084	Clinodactyly	1387	CREBBP	OMIM:180849
HP:0030084	Clinodactyly	26100	WIPI2	OMIM:618453
HP:0030084	Clinodactyly	10533	ATG7	OMIM:619422
HP:0030084	Clinodactyly	8295	TRRAP	OMIM:618454
HP:0030084	Clinodactyly	7227	TRPS1	ORPHA:77258
HP:0030084	Clinodactyly	9949	AMMECR1	OMIM:300990
HP:0030084	Clinodactyly	658	BMPR1B	OMIM:112600
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93396
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93384
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93388
HP:0030084	Clinodactyly	658	BMPR1B	OMIM:616849
HP:0030084	Clinodactyly	650	BMP2	OMIM:112600
HP:0030084	Clinodactyly	650	BMP2	ORPHA:93396
HP:0030084	Clinodactyly	650	BMP2	OMIM:617877
HP:0030084	Clinodactyly	6477	SIAH1	OMIM:619314
HP:0030084	Clinodactyly	10785	WDR4	OMIM:618347
HP:0030084	Clinodactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0030084	Clinodactyly	100151683	RNU4ATAC	OMIM:226960
HP:0030084	Clinodactyly	100151683	RNU4ATAC	OMIM:616651
HP:0030084	Clinodactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0030084	Clinodactyly	55869	HDAC8	OMIM:300882
HP:0030084	Clinodactyly	55869	HDAC8	ORPHA:199
HP:0030084	Clinodactyly	117581	TWIST2	OMIM:200110
HP:0030084	Clinodactyly	117581	TWIST2	OMIM:209885
HP:0030084	Clinodactyly	23030	KDM4B	OMIM:619320
HP:0030084	Clinodactyly	9126	SMC3	OMIM:610759
HP:0030084	Clinodactyly	9126	SMC3	ORPHA:199
HP:0030084	Clinodactyly	1725	DHPS	OMIM:618480
HP:0030084	Clinodactyly	55777	MBD5	OMIM:156200
HP:0030084	Clinodactyly	55777	MBD5	ORPHA:228402
HP:0030084	Clinodactyly	5980	REV3L	ORPHA:570
HP:0030084	Clinodactyly	23129	PLXND1	ORPHA:570
HP:0030084	Clinodactyly	4998	ORC1	OMIM:224690
HP:0030084	Clinodactyly	4998	ORC1	ORPHA:2554
HP:0030084	Clinodactyly	4052	LTBP1	OMIM:619451
HP:0030084	Clinodactyly	7468	NSD2	OMIM:619695
HP:0030084	Clinodactyly	9496	TBX4	ORPHA:261279
HP:0030084	Clinodactyly	8091	HMGA2	ORPHA:94063
HP:0030084	Clinodactyly	8091	HMGA2	ORPHA:397590
HP:0030084	Clinodactyly	23592	LEMD3	ORPHA:94063
HP:0030084	Clinodactyly	164	AP1G1	OMIM:619467
HP:0030084	Clinodactyly	5283	PIGH	OMIM:618010
HP:0030084	Clinodactyly	50801	KCNK4	OMIM:618381
HP:0030084	Clinodactyly	9757	KMT2B	ORPHA:589618
HP:0030084	Clinodactyly	4613	MYCN	ORPHA:391641
HP:0030084	Clinodactyly	57003	CCDC47	OMIM:618268
HP:0030084	Clinodactyly	8812	CCNK	OMIM:618147
HP:0030084	Clinodactyly	29895	MYL11	OMIM:619110
HP:0030084	Clinodactyly	94005	PIGS	OMIM:618143
HP:0030084	Clinodactyly	145173	B3GLCT	OMIM:261540
HP:0030084	Clinodactyly	145173	B3GLCT	ORPHA:709
HP:0030084	Clinodactyly	2033	EP300	OMIM:180849
HP:0030084	Clinodactyly	92002	CCNQ	OMIM:300707
HP:0030084	Clinodactyly	92002	CCNQ	ORPHA:140952
HP:0030084	Clinodactyly	285590	SH3PXD2B	ORPHA:137834
HP:0030084	Clinodactyly	80036	TRPM3	OMIM:620224
HP:0030084	Clinodactyly	526	ATP6V1B2	ORPHA:79500
HP:0030084	Clinodactyly	57465	TBC1D24	ORPHA:79500
HP:0030084	Clinodactyly	57465	TBC1D24	OMIM:220500
HP:0030084	Clinodactyly	5728	PTEN	ORPHA:744
HP:0030084	Clinodactyly	207	AKT1	ORPHA:744
HP:0030084	Clinodactyly	1457	CSNK2A1	OMIM:617062
HP:0030084	Clinodactyly	7204	TRIO	OMIM:617061
HP:0030084	Clinodactyly	7204	TRIO	ORPHA:476126
HP:0030084	Clinodactyly	51715	RAB23	OMIM:201000
HP:0030084	Clinodactyly	28952	CCDC22	OMIM:300963
HP:0030084	Clinodactyly	90416	CCDC32	OMIM:619123
HP:0030084	Clinodactyly	8450	CUL4B	ORPHA:85293
HP:0030084	Clinodactyly	55717	WDR11	OMIM:620237
HP:0030084	Clinodactyly	6299	SALL1	ORPHA:857
HP:0030084	Clinodactyly	51339	DACT1	ORPHA:857
HP:0030084	Clinodactyly	22995	CEP152	OMIM:613823
HP:0030084	Clinodactyly	22995	CEP152	ORPHA:808
HP:0030084	Clinodactyly	3549	IHH	OMIM:112500
HP:0030084	Clinodactyly	3549	IHH	ORPHA:93388
HP:0030084	Clinodactyly	3090	HIC1	ORPHA:531
HP:0030084	Clinodactyly	10436	EMG1	OMIM:211180
HP:0030084	Clinodactyly	10436	EMG1	ORPHA:1270
HP:0030084	Clinodactyly	23387	SIK3	OMIM:618162
HP:0030084	Clinodactyly	10084	PQBP1	OMIM:309500
HP:0030084	Clinodactyly	89970	RSPRY1	ORPHA:457395
HP:0030084	Clinodactyly	22800	RRAS2	ORPHA:648
HP:0030084	Clinodactyly	867	CBL	ORPHA:648
HP:0030084	Clinodactyly	8216	LZTR1	ORPHA:648
HP:0030084	Clinodactyly	6016	RIT1	ORPHA:648
HP:0030084	Clinodactyly	6237	RRAS	ORPHA:648
HP:0030084	Clinodactyly	5894	RAF1	ORPHA:648
HP:0030084	Clinodactyly	22808	MRAS	ORPHA:648
HP:0030084	Clinodactyly	3845	KRAS	ORPHA:648
HP:0030084	Clinodactyly	4893	NRAS	ORPHA:648
HP:0030084	Clinodactyly	6654	SOS1	ORPHA:648
HP:0030084	Clinodactyly	6655	SOS2	ORPHA:648
HP:0030084	Clinodactyly	5922	RASA2	ORPHA:648
HP:0030084	Clinodactyly	23522	KAT6B	ORPHA:3047
HP:0030084	Clinodactyly	6913	TBX15	OMIM:260660
HP:0030084	Clinodactyly	79023	NUP37	OMIM:618179
HP:0030084	Clinodactyly	375056	MIA3	OMIM:619269
HP:0030084	Clinodactyly	27161	AGO2	OMIM:619149
HP:0030084	Clinodactyly	5567	PRKACB	OMIM:619143
HP:0030084	Clinodactyly	221927	BRAT1	OMIM:618056
HP:0030084	Clinodactyly	8823	FGF16	OMIM:309630
HP:0030084	Clinodactyly	5518	PPP2R1A	ORPHA:457284
HP:0030084	Clinodactyly	161742	SPRED1	ORPHA:137605
HP:0030084	Clinodactyly	7337	UBE3A	ORPHA:238446
HP:0030084	Clinodactyly	1832	DSP	ORPHA:158687
HP:0030084	Clinodactyly	1832	DSP	OMIM:609638
HP:0030084	Clinodactyly	3728	JUP	ORPHA:158687
HP:0030084	Clinodactyly	23241	PACS2	OMIM:618067
HP:0030084	Clinodactyly	26128	KIFBP	OMIM:609460
HP:0030084	Clinodactyly	23556	PIGN	ORPHA:2059
HP:0030084	Clinodactyly	5885	RAD21	OMIM:614701
HP:0030084	Clinodactyly	5885	RAD21	ORPHA:199
HP:0030084	Clinodactyly	3209	HOXA13	OMIM:140000
HP:0030084	Clinodactyly	3209	HOXA13	ORPHA:2438
HP:0030084	Clinodactyly	8854	ALDH1A2	OMIM:620025
HP:0030084	Clinodactyly	10274	STAG1	ORPHA:502434
HP:0030084	Clinodactyly	3239	HOXD13	OMIM:186000
HP:0030084	Clinodactyly	3239	HOXD13	ORPHA:93406
HP:0030084	Clinodactyly	613	BCR	ORPHA:261330
HP:0030084	Clinodactyly	1399	CRKL	ORPHA:261330
HP:0030084	Clinodactyly	89910	UBE3B	OMIM:244450
HP:0030084	Clinodactyly	2314	FLII	ORPHA:819
HP:0030084	Clinodactyly	23096	IQSEC2	ORPHA:819
HP:0030084	Clinodactyly	10743	RAI1	ORPHA:819
HP:0030084	Clinodactyly	10522	DEAF1	ORPHA:819
HP:0030084	Clinodactyly	150468	CKAP2L	ORPHA:3255
HP:0030084	Clinodactyly	6595	SMARCA2	OMIM:619293
HP:0030084	Clinodactyly	10459	MAD2L2	ORPHA:84
HP:0030084	Clinodactyly	7516	XRCC2	ORPHA:84
HP:0030084	Clinodactyly	29089	UBE2T	ORPHA:84
HP:0030084	Clinodactyly	675	BRCA2	ORPHA:84
HP:0030084	Clinodactyly	55120	FANCL	ORPHA:84
HP:0030084	Clinodactyly	2177	FANCD2	ORPHA:84
HP:0030084	Clinodactyly	2175	FANCA	ORPHA:84
HP:0030084	Clinodactyly	2187	FANCB	ORPHA:84
HP:0030084	Clinodactyly	2176	FANCC	ORPHA:84
HP:0030084	Clinodactyly	2178	FANCE	ORPHA:84
HP:0030084	Clinodactyly	2188	FANCF	ORPHA:84
HP:0030084	Clinodactyly	2189	FANCG	ORPHA:84
HP:0030084	Clinodactyly	5888	RAD51	ORPHA:84
HP:0030084	Clinodactyly	5889	RAD51C	ORPHA:84
HP:0030084	Clinodactyly	55159	RFWD3	ORPHA:84
HP:0030084	Clinodactyly	83990	BRIP1	ORPHA:84
HP:0030084	Clinodactyly	57697	FANCM	ORPHA:84
HP:0030084	Clinodactyly	79728	PALB2	ORPHA:84
HP:0030084	Clinodactyly	84464	SLX4	ORPHA:84
HP:0030084	Clinodactyly	2072	ERCC4	ORPHA:84
HP:0030084	Clinodactyly	55215	FANCI	ORPHA:84
HP:0030084	Clinodactyly	84823	LMNB2	OMIM:619180
HP:0030084	Clinodactyly	9184	BUB3	ORPHA:1052
HP:0030084	Clinodactyly	699	BUB1	ORPHA:1052
HP:0030084	Clinodactyly	699	BUB1	OMIM:620183
HP:0030084	Clinodactyly	9319	TRIP13	ORPHA:1052
HP:0030084	Clinodactyly	701	BUB1B	ORPHA:1052
HP:0030084	Clinodactyly	54476	RNF216	ORPHA:1173
HP:0030084	Clinodactyly	10908	PNPLA6	ORPHA:1173
HP:0030084	Clinodactyly	23036	ZNF292	OMIM:619188
HP:0030084	Clinodactyly	51199	NIN	OMIM:614851
HP:0030084	Clinodactyly	51199	NIN	ORPHA:319675
HP:0030084	Clinodactyly	1954	MEGF8	OMIM:614976
HP:0030084	Clinodactyly	4953	ODC1	OMIM:619075
HP:0030084	Clinodactyly	4953	ODC1	ORPHA:544488
HP:0030084	Clinodactyly	2535	FZD2	ORPHA:3107
HP:0030084	Clinodactyly	2535	FZD2	OMIM:164745
HP:0030084	Clinodactyly	26053	AUTS2	OMIM:615834
HP:0030084	Clinodactyly	6804	STX1A	ORPHA:904
HP:0030084	Clinodactyly	7461	CLIP2	ORPHA:904
HP:0030084	Clinodactyly	84277	DNAJC30	ORPHA:904
HP:0030084	Clinodactyly	8468	FKBP6	ORPHA:904
HP:0030084	Clinodactyly	5982	RFC2	ORPHA:904
HP:0030084	Clinodactyly	2969	GTF2I	ORPHA:904
HP:0030084	Clinodactyly	3984	LIMK1	ORPHA:904
HP:0030084	Clinodactyly	9569	GTF2IRD1	ORPHA:904
HP:0030084	Clinodactyly	155382	VPS37D	ORPHA:904
HP:0030084	Clinodactyly	155368	METTL27	ORPHA:904
HP:0030084	Clinodactyly	114049	BUD23	ORPHA:904
HP:0030084	Clinodactyly	7458	EIF4H	ORPHA:904
HP:0030084	Clinodactyly	84163	GTF2IRD2	ORPHA:904
HP:0030084	Clinodactyly	9275	BCL7B	ORPHA:904
HP:0030084	Clinodactyly	26608	TBL2	ORPHA:904
HP:0030084	Clinodactyly	653361	NCF1	ORPHA:904
HP:0030084	Clinodactyly	135886	TMEM270	ORPHA:904
HP:0030084	Clinodactyly	51085	MLXIPL	ORPHA:904
HP:0030084	Clinodactyly	51085	MLXIPL	OMIM:194050
HP:0030084	Clinodactyly	9031	BAZ1B	ORPHA:904
HP:0030084	Clinodactyly	2006	ELN	ORPHA:904
HP:0030084	Clinodactyly	2006	ELN	OMIM:194050
HP:0030084	Clinodactyly	2122	MECOM	ORPHA:71289
HP:0030084	Clinodactyly	3207	HOXA11	ORPHA:71289
HP:0030084	Clinodactyly	3207	HOXA11	OMIM:605432
HP:0030084	Clinodactyly	81031	SLC2A10	ORPHA:3342
HP:0030084	Clinodactyly	55165	CEP55	OMIM:236500
HP:0030084	Clinodactyly	4094	MAF	ORPHA:1272
HP:0030084	Clinodactyly	6628	SNRPB	ORPHA:1393
HP:0030084	Clinodactyly	6628	SNRPB	OMIM:117650
HP:0030084	Clinodactyly	1028	CDKN1C	ORPHA:397590
HP:0030084	Clinodactyly	5324	PLAG1	ORPHA:397590
HP:0030084	Clinodactyly	9555	MACROH2A1	ORPHA:1275
HP:0030084	Clinodactyly	5307	PITX1	ORPHA:1275
HP:0030084	Clinodactyly	5422	POLA1	ORPHA:163976
HP:0030084	Clinodactyly	5422	POLA1	OMIM:301030
HP:0030084	Clinodactyly	55906	ZC4H2	ORPHA:3454
HP:0030084	Clinodactyly	10430	TMEM147	OMIM:620075
HP:0030084	Clinodactyly	3187	HNRNPH1	OMIM:620083
HP:0030084	Clinodactyly	2626	GATA4	OMIM:187500
HP:0030084	Clinodactyly	2626	GATA4	ORPHA:3303
HP:0030084	Clinodactyly	23414	ZFPM2	OMIM:187500
HP:0030084	Clinodactyly	23414	ZFPM2	ORPHA:3303
HP:0030084	Clinodactyly	1482	NKX2-5	OMIM:187500
HP:0030084	Clinodactyly	1482	NKX2-5	ORPHA:3303
HP:0030084	Clinodactyly	182	JAG1	OMIM:187500
HP:0030084	Clinodactyly	182	JAG1	ORPHA:3303
HP:0030084	Clinodactyly	6899	TBX1	OMIM:187500
HP:0030084	Clinodactyly	6899	TBX1	ORPHA:3303
HP:0030084	Clinodactyly	2627	GATA6	OMIM:187500
HP:0030084	Clinodactyly	2627	GATA6	ORPHA:3303
HP:0030084	Clinodactyly	545	ATR	ORPHA:808
HP:0030084	Clinodactyly	545	ATR	OMIM:210600
HP:0030084	Clinodactyly	1062	CENPE	ORPHA:808
HP:0030084	Clinodactyly	5116	PCNT	ORPHA:808
HP:0030084	Clinodactyly	5116	PCNT	OMIM:210720
HP:0030084	Clinodactyly	5116	PCNT	ORPHA:2637
HP:0030084	Clinodactyly	79902	NUP85	ORPHA:808
HP:0030084	Clinodactyly	84126	ATRIP	ORPHA:808
HP:0030084	Clinodactyly	55835	CENPJ	ORPHA:808
HP:0030084	Clinodactyly	10293	TRAIP	ORPHA:808
HP:0030084	Clinodactyly	10733	PLK4	ORPHA:808
HP:0030084	Clinodactyly	9939	RBM8A	ORPHA:3320
HP:0030084	Clinodactyly	9939	RBM8A	OMIM:274000
HP:0030084	Clinodactyly	55023	PHIP	ORPHA:589905
HP:0030084	Clinodactyly	55023	PHIP	OMIM:617991
HP:0030084	Clinodactyly	8626	TP63	ORPHA:69085
HP:0030084	Clinodactyly	29123	ANKRD11	OMIM:148050
HP:0030084	Clinodactyly	9775	EIF4A3	OMIM:268305
HP:0030084	Clinodactyly	2702	GJA5	OMIM:612474
HP:0030084	Clinodactyly	2702	GJA5	ORPHA:3303
HP:0030084	Clinodactyly	2703	GJA8	OMIM:612474
HP:0030084	Clinodactyly	3897	L1CAM	ORPHA:2466
HP:0030084	Clinodactyly	4208	MEF2C	OMIM:613443
HP:0030084	Clinodactyly	55690	PACS1	ORPHA:329224
HP:0030084	Clinodactyly	9230	RAB11B	OMIM:617807
HP:0030084	Clinodactyly	51621	KLF13	OMIM:612001
HP:0030084	Clinodactyly	5648	MASP1	OMIM:257920
HP:0030084	Clinodactyly	23394	ADNP	OMIM:615873
HP:0030084	Clinodactyly	9759	HDAC4	ORPHA:1001
HP:0030084	Clinodactyly	11133	KPTN	OMIM:615637
HP:0030084	Clinodactyly	11133	KPTN	ORPHA:397612
HP:0030084	Clinodactyly	85358	SHANK3	OMIM:606232
HP:0030084	Clinodactyly	85358	SHANK3	ORPHA:48652
HP:0030084	Clinodactyly	23028	KDM1A	OMIM:616728
HP:0030084	Clinodactyly	23028	KDM1A	ORPHA:477993
HP:0030084	Clinodactyly	137814	NKX2-6	ORPHA:3303
HP:0030084	Clinodactyly	3791	KDR	ORPHA:3303
HP:0030084	Clinodactyly	2657	GDF1	ORPHA:3303
HP:0030084	Clinodactyly	140628	GATA5	ORPHA:3303
HP:0030084	Clinodactyly	2324	FLT4	ORPHA:3303
HP:0030084	Clinodactyly	10370	CITED2	ORPHA:3303
HP:0030084	Clinodactyly	2334	AFF2	ORPHA:100973
HP:0030084	Clinodactyly	10982	MAPRE2	OMIM:616734
HP:0030084	Clinodactyly	54808	DYM	OMIM:223800
HP:0030084	Clinodactyly	84679	SLC9A7	OMIM:301024
HP:0030084	Clinodactyly	10735	STAG2	OMIM:301022
HP:0030084	Clinodactyly	10265	IRX5	OMIM:611174
HP:0030084	Clinodactyly	5925	RB1	ORPHA:1587
HP:0030084	Clinodactyly	7874	USP7	OMIM:616863
HP:0030084	Clinodactyly	3759	KCNJ2	OMIM:170390
HP:0030084	Clinodactyly	81620	CDT1	ORPHA:2554
HP:0030084	Clinodactyly	5000	ORC4	ORPHA:2554
HP:0030084	Clinodactyly	23594	ORC6	ORPHA:2554
HP:0030084	Clinodactyly	8318	CDC45	ORPHA:2554
HP:0030084	Clinodactyly	51053	GMNN	ORPHA:2554
HP:0030084	Clinodactyly	64093	SMOC1	ORPHA:1106
HP:0030084	Clinodactyly	25	ABL1	OMIM:617602
HP:0030084	Clinodactyly	83696	TRAPPC9	ORPHA:352530
HP:0030084	Clinodactyly	860	RUNX2	ORPHA:1452
HP:0030084	Clinodactyly	29980	DONSON	OMIM:617604
HP:0030084	Clinodactyly	23476	BRD4	ORPHA:199
HP:0030084	Clinodactyly	10664	CTCF	ORPHA:363611
HP:0030084	Clinodactyly	157680	VPS13B	ORPHA:193
HP:0030084	Clinodactyly	22931	RAB18	OMIM:614222
HP:0030084	Clinodactyly	490	ATP2B1	OMIM:619910
HP:0030084	Clinodactyly	8405	SPOP	OMIM:618828
HP:0030084	Clinodactyly	8405	SPOP	OMIM:618829
HP:0030084	Clinodactyly	284252	KCTD1	OMIM:181270
HP:0030084	Clinodactyly	54870	QRICH1	OMIM:617982
HP:0030084	Clinodactyly	139285	AMER1	OMIM:300373
HP:0030084	Clinodactyly	4841	NONO	ORPHA:466791
HP:0030084	Clinodactyly	1663	DDX11	OMIM:613398
HP:0030084	Clinodactyly	51317	PHF21A	OMIM:618725
HP:0030084	Clinodactyly	2186	BPTF	OMIM:617755
HP:0030084	Clinodactyly	4848	CNOT2	OMIM:618608
HP:0030084	Clinodactyly	124583	CANT1	ORPHA:1425
HP:0030084	Clinodactyly	4204	MECP2	OMIM:300260
HP:0030084	Clinodactyly	55553	SOX6	OMIM:618971
HP:0030084	Clinodactyly	84148	KAT8	OMIM:618974
HP:0030084	Clinodactyly	58499	ZNF462	OMIM:618619
HP:0030084	Clinodactyly	4882	NPR2	OMIM:615923
HP:0030084	Clinodactyly	9241	NOG	OMIM:186500
HP:0030084	Clinodactyly	25782	RAB3GAP2	OMIM:614225
HP:0030084	Clinodactyly	118924	FRA10AC1	OMIM:620113
HP:0030084	Clinodactyly	84342	COG8	OMIM:611182
HP:0030084	Clinodactyly	341208	HEPHL1	OMIM:261990
HP:0030084	Clinodactyly	8243	SMC1A	OMIM:300590
HP:0030084	Clinodactyly	8243	SMC1A	OMIM:301044
HP:0030084	Clinodactyly	10617	STAMBP	OMIM:614261
HP:0030084	Clinodactyly	10262	SF3B4	OMIM:154400
HP:0030084	Clinodactyly	83932	SPRTN	OMIM:616200
HP:0030084	Clinodactyly	57539	WDR35	OMIM:613610
HP:0030084	Clinodactyly	5447	POR	ORPHA:95699
HP:0030084	Clinodactyly	4784	NFIX	ORPHA:447980
HP:0030084	Clinodactyly	2316	FLNA	OMIM:300244
HP:0030084	Clinodactyly	2316	FLNA	ORPHA:88630
HP:0030084	Clinodactyly	2316	FLNA	OMIM:300049
HP:0030084	Clinodactyly	1855	DVL1	OMIM:616331
HP:0030084	Clinodactyly	1855	DVL1	OMIM:180700
HP:0030084	Clinodactyly	4552	MTRR	ORPHA:2169
HP:0030084	Clinodactyly	10847	SRCAP	ORPHA:2044
HP:0030084	Clinodactyly	26012	NSMF	OMIM:614838
HP:0030084	Clinodactyly	55780	ERMARD	ORPHA:75857
HP:0030084	Clinodactyly	10225	CD96	OMIM:211750
HP:0030084	Clinodactyly	57231	SNX14	ORPHA:397709
HP:0030084	Clinodactyly	57231	SNX14	OMIM:616354
HP:0030084	Clinodactyly	10559	SLC35A1	OMIM:603585
HP:0030084	Clinodactyly	56992	KIF15	ORPHA:261323
HP:0030084	Clinodactyly	56992	KIF15	OMIM:619981
HP:0030084	Clinodactyly	84992	PIGY	ORPHA:247262
HP:0030084	Clinodactyly	84720	PIGO	ORPHA:247262
HP:0030084	Clinodactyly	93210	PGAP3	ORPHA:247262
HP:0030084	Clinodactyly	284098	PIGW	ORPHA:247262
HP:0030084	Clinodactyly	27315	PGAP2	ORPHA:247262
HP:0030084	Clinodactyly	55650	PIGV	ORPHA:247262
HP:0030084	Clinodactyly	9487	PIGL	ORPHA:247262
HP:0030084	Clinodactyly	9487	PIGL	OMIM:280000
HP:0030084	Clinodactyly	10584	COLEC10	OMIM:248340
HP:0030084	Clinodactyly	8913	CACNA1G	OMIM:618087
HP:0030084	Clinodactyly	80204	FBXO11	OMIM:618089
HP:0030084	Clinodactyly	64359	NXN	OMIM:618529
HP:0030084	Clinodactyly	92579	G6PC3	OMIM:612541
HP:0030084	Clinodactyly	81857	MED25	ORPHA:464738
HP:0030084	Clinodactyly	2697	GJA1	ORPHA:2710
HP:0030084	Clinodactyly	2697	GJA1	OMIM:164200
HP:0030084	Clinodactyly	59341	TRPV4	OMIM:113500
HP:0030084	Clinodactyly	59341	TRPV4	OMIM:181405
HP:0030084	Clinodactyly	4297	KMT2A	ORPHA:319182
HP:0030084	Clinodactyly	93627	TBCK	ORPHA:488632
HP:0030084	Clinodactyly	200734	SPRED2	OMIM:619745
HP:0030084	Clinodactyly	3782	KCNN3	OMIM:618658
HP:0030084	Clinodactyly	25942	SIN3A	OMIM:613406
HP:0030084	Clinodactyly	25942	SIN3A	ORPHA:94065
HP:0030084	Clinodactyly	25942	SIN3A	ORPHA:500166
HP:0030084	Clinodactyly	8642	DCHS1	OMIM:601390
HP:0030084	Clinodactyly	374654	KIF7	OMIM:607131
HP:0030084	Clinodactyly	374654	KIF7	ORPHA:166024
HP:0030084	Clinodactyly	26227	PHGDH	OMIM:256520
HP:0030084	Clinodactyly	8241	RBM10	OMIM:311900
HP:0030084	Clinodactyly	8241	RBM10	ORPHA:2886
HP:0030084	Clinodactyly	1798	DPAGT1	ORPHA:86309
HP:0030084	Clinodactyly	1280	COL2A1	OMIM:184250
HP:0030084	Clinodactyly	1280	COL2A1	ORPHA:93315
HP:0030084	Clinodactyly	8260	NAA10	OMIM:309800
HP:0030084	Clinodactyly	54880	BCOR	OMIM:309800
HP:0030084	Clinodactyly	23512	SUZ12	OMIM:618786
HP:0030084	Clinodactyly	3590	IL11RA	OMIM:614188
HP:0030084	Clinodactyly	8558	CDK10	OMIM:617694
HP:0030084	Clinodactyly	4000	LMNA	OMIM:610140
HP:0030084	Clinodactyly	6660	SOX5	OMIM:616803
HP:0030084	Clinodactyly	11128	POLR3A	OMIM:264090
HP:0030084	Clinodactyly	8085	KMT2D	OMIM:620186
HP:0030084	Clinodactyly	23137	SMC5	OMIM:620185
HP:0030084	Clinodactyly	79759	ZNF668	OMIM:620194
HP:0030084	Clinodactyly	4089	SMAD4	OMIM:139210
HP:0030084	Clinodactyly	27086	FOXP1	ORPHA:391372
HP:0030084	Clinodactyly	5594	MAPK1	OMIM:619087
HP:0030084	Clinodactyly	56098	PCDHGC4	OMIM:619880
HP:0030084	Clinodactyly	8481	OFD1	OMIM:311200
HP:0030084	Clinodactyly	7140	TNNT3	OMIM:618435
HP:0030084	Clinodactyly	2263	FGFR2	ORPHA:2363
HP:0030084	Clinodactyly	2261	FGFR3	ORPHA:2363
HP:0030084	Clinodactyly	2261	FGFR3	OMIM:602849
HP:0030084	Clinodactyly	2255	FGF10	ORPHA:2363
HP:0030084	Clinodactyly	6925	TCF4	OMIM:610954
HP:0030084	Clinodactyly	1749	DLX5	OMIM:183600
HP:0030084	Clinodactyly	4920	ROR2	OMIM:268310
HP:0030084	Clinodactyly	5295	PIK3R1	OMIM:269880
HP:0030084	Clinodactyly	4677	NARS1	OMIM:619091
HP:0030084	Clinodactyly	4677	NARS1	OMIM:619092
HP:0030084	Clinodactyly	546	ATRX	OMIM:309580
HP:0030084	Clinodactyly	546	ATRX	OMIM:301040
HP:0030084	Clinodactyly	2146	EZH2	OMIM:277590
HP:0030084	Clinodactyly	9896	FIG4	OMIM:216340
HP:0030084	Clinodactyly	157570	ESCO2	OMIM:268300
HP:0030084	Clinodactyly	10195	ALG3	OMIM:601110
HP:0030084	Clinodactyly	257	ALX3	OMIM:136760
HP:0030084	Clinodactyly	4883	NPR3	OMIM:619543
HP:0030084	Clinodactyly	54903	MKS1	OMIM:249000
HP:0030084	Clinodactyly	8621	CDK13	OMIM:617360
HP:0030084	Clinodactyly	5881	RAC3	OMIM:618577
HP:0030084	Clinodactyly	55212	BBS7	OMIM:615984
HP:0030084	Clinodactyly	5426	POLE	OMIM:618336
HP:0030084	Clinodactyly	9894	TELO2	OMIM:616954
HP:0030084	Clinodactyly	9894	TELO2	ORPHA:488642
HP:0030084	Clinodactyly	6664	SOX11	OMIM:615866
HP:0030084	Clinodactyly	6664	SOX11	ORPHA:1465
HP:0030084	Clinodactyly	196528	ARID2	OMIM:617808
HP:0030084	Clinodactyly	196528	ARID2	ORPHA:1465
HP:0030084	Clinodactyly	27152	INTU	OMIM:617926
HP:0030084	Clinodactyly	26123	TCTN3	OMIM:258860
HP:0030084	Clinodactyly	10075	HUWE1	OMIM:309590
HP:0030084	Clinodactyly	3480	IGF1R	ORPHA:73273
HP:0030084	Clinodactyly	3480	IGF1R	OMIM:270450
HP:0030084	Clinodactyly	3479	IGF1	ORPHA:73272
HP:0030084	Clinodactyly	23111	SPART	OMIM:275900
HP:0030084	Clinodactyly	23111	SPART	ORPHA:101000
HP:0030084	Clinodactyly	2245	FGD1	OMIM:305400
HP:0030084	Clinodactyly	5898	RALA	OMIM:619311
HP:0030084	Clinodactyly	54892	NCAPG2	OMIM:618460
HP:0030084	Clinodactyly	8473	OGT	OMIM:300997
HP:0030084	Clinodactyly	9698	PUM1	OMIM:617931
HP:0030084	Clinodactyly	2335	FN1	ORPHA:93315
HP:0030084	Clinodactyly	2260	FGFR1	OMIM:147950
HP:0030084	Clinodactyly	57122	NUP107	OMIM:618348
HP:0030084	Clinodactyly	57122	NUP107	OMIM:616730
HP:0030084	Clinodactyly	56623	INPP5E	OMIM:213300
HP:0030084	Clinodactyly	23363	OBSL1	OMIM:612921
HP:0030084	Clinodactyly	7681	MKRN3	OMIM:176270
HP:0030084	Clinodactyly	3653	IPW	OMIM:176270
HP:0030084	Clinodactyly	54551	MAGEL2	OMIM:176270
HP:0030084	Clinodactyly	54551	MAGEL2	OMIM:615547
HP:0030084	Clinodactyly	791114	PWRN1	OMIM:176270
HP:0030084	Clinodactyly	100033413	SNORD116-1	OMIM:176270
HP:0030084	Clinodactyly	8924	HERC2	OMIM:176270
HP:0030084	Clinodactyly	145624	PWAR1	OMIM:176270
HP:0030084	Clinodactyly	23742	NPAP1	OMIM:176270
HP:0030084	Clinodactyly	338433	SNORD115-1	OMIM:176270
HP:0030084	Clinodactyly	5745	PTH1R	OMIM:600002
HP:0030084	Clinodactyly	55315	SLC29A3	OMIM:602782
HP:0030084	Clinodactyly	2623	GATA1	OMIM:190685
HP:0030084	Clinodactyly	84162	BLTP1	OMIM:617822
HP:0030084	Clinodactyly	998	CDC42	OMIM:616737
HP:0030084	Clinodactyly	998	CDC42	ORPHA:487796
HP:0030084	Clinodactyly	999	CDH1	OMIM:119580
HP:0030084	Clinodactyly	5053	PAH	ORPHA:2209
HP:0030084	Clinodactyly	4131	MAP1B	OMIM:618918
HP:0030084	Clinodactyly	2239	GPC4	OMIM:301026
HP:0030084	Clinodactyly	56915	EXOSC5	OMIM:619576
HP:0030084	Clinodactyly	7476	WNT7A	OMIM:228930
HP:0030084	Clinodactyly	23511	NUP188	OMIM:618804
HP:0030084	Clinodactyly	6597	SMARCA4	ORPHA:1465
HP:0030084	Clinodactyly	6598	SMARCB1	ORPHA:1465
HP:0030084	Clinodactyly	6659	SOX4	ORPHA:1465
HP:0030084	Clinodactyly	8289	ARID1A	ORPHA:1465
HP:0030084	Clinodactyly	5977	DPF2	ORPHA:1465
HP:0030084	Clinodactyly	6601	SMARCC2	ORPHA:1465
HP:0030084	Clinodactyly	6602	SMARCD1	ORPHA:1465
HP:0030084	Clinodactyly	57492	ARID1B	ORPHA:1465
HP:0030084	Clinodactyly	6605	SMARCE1	ORPHA:1465
HP:0030084	Clinodactyly	23389	MED13L	ORPHA:369891
HP:0030084	Clinodactyly	23389	MED13L	OMIM:616789
HP:0030084	Clinodactyly	5077	PAX3	OMIM:148820
HP:0030084	Clinodactyly	55764	IFT122	OMIM:218330
HP:0030084	Clinodactyly	7703	PCGF2	OMIM:618371
HP:0030084	Clinodactyly	79633	FAT4	OMIM:615546
HP:0030084	Clinodactyly	990	CDC6	OMIM:613805
HP:0030084	Clinodactyly	65250	CPLANE1	OMIM:277170
HP:0030084	Clinodactyly	63895	PIEZO2	OMIM:108145
HP:0030084	Clinodactyly	2887	GRB10	ORPHA:96182
HP:0030084	Clinodactyly	55617	TASP1	OMIM:618950
HP:0030084	Clinodactyly	1857	DVL3	OMIM:616894
HP:0030084	Clinodactyly	5075	PAX1	OMIM:615560
HP:0030084	Clinodactyly	83737	ITCH	OMIM:613385
HP:0030084	Clinodactyly	83737	ITCH	ORPHA:228426
HP:0030084	Clinodactyly	9702	CEP57	OMIM:614114
HP:0030084	Clinodactyly	23529	CLCF1	OMIM:610313
HP:0030084	Clinodactyly	93587	TRMT10A	ORPHA:391408
HP:0030084	Clinodactyly	84919	PPP1R15B	ORPHA:391408
HP:0030084	Clinodactyly	6748	SSR4	OMIM:300934
HP:0030084	Clinodactyly	51371	POMP	OMIM:618048
HP:0030084	Clinodactyly	9320	TRIP12	OMIM:617752
HP:0030084	Clinodactyly	7518	XRCC4	OMIM:616541
HP:0030084	Clinodactyly	84231	TRAF7	OMIM:618164
HP:0030084	Clinodactyly	8242	KDM5C	ORPHA:85279
HP:0030084	Clinodactyly	387	RHOA	OMIM:618727
HP:0030084	Clinodactyly	11043	MID2	OMIM:300928
HP:0030084	Clinodactyly	64131	XYLT1	ORPHA:370930
HP:0030084	Clinodactyly	7474	WNT5A	OMIM:180700
HP:0030084	Clinodactyly	5286	PIK3C2A	ORPHA:557003
HP:0030084	Clinodactyly	23309	SIN3B	ORPHA:500166
HP:0030084	Clinodactyly	672	BRCA1	OMIM:617883
HP:0030084	Clinodactyly	22827	PUF60	OMIM:615583
HP:0030084	Clinodactyly	4654	MYOD1	OMIM:618975
HP:0030084	Clinodactyly	25886	POC1A	OMIM:614813
HP:0030084	Clinodactyly	5604	MAP2K1	OMIM:163950
HP:0030084	Clinodactyly	5781	PTPN11	OMIM:163950
HP:0030084	Clinodactyly	673	BRAF	OMIM:163950
HP:0030084	Clinodactyly	55249	YY1AP1	OMIM:602531
HP:0030084	Clinodactyly	10466	COG5	ORPHA:263487
HP:0030084	Clinodactyly	8092	ALX1	ORPHA:306542
HP:0030084	Clinodactyly	6885	MAP3K7	OMIM:617137
HP:0030084	Clinodactyly	4750	NEK1	ORPHA:2751
HP:0030084	Clinodactyly	10210	TOPORS	ORPHA:2754
HP:0030084	Clinodactyly	9851	KIAA0753	ORPHA:2754
HP:0030084	Clinodactyly	5147	PDE6D	ORPHA:2754
HP:0030084	Clinodactyly	51259	TMEM216	ORPHA:2754
HP:0030084	Clinodactyly	317662	FAM149B1	ORPHA:2754
HP:0030084	Clinodactyly	6910	TBX5	OMIM:142900
HP:0030084	Clinodactyly	2036	EPB41L1	OMIM:614257
HP:0030084	Clinodactyly	55784	MCTP2	ORPHA:1596
HP:0030084	Clinodactyly	1747	DLX3	ORPHA:3352
HP:0030084	Clinodactyly	10236	HNRNPR	OMIM:620073
HP:0030084	Clinodactyly	9968	MED12	ORPHA:93932
HP:0030084	Clinodactyly	9742	IFT140	OMIM:266920
HP:0030084	Clinodactyly	22856	CHSY1	ORPHA:363417
HP:0030084	Clinodactyly	55790	CSGALNACT1	OMIM:618870
HP:0030084	Clinodactyly	55027	HEATR3	OMIM:620072
HP:0030084	Clinodactyly	91461	PKDCC	OMIM:618821
HP:0030084	Clinodactyly	388015	RTL1	ORPHA:96334
HP:0030084	Clinodactyly	8788	DLK1	ORPHA:96334
HP:0030084	Clinodactyly	55384	MEG3	ORPHA:96334
HP:0030084	Clinodactyly	1301	COL11A1	OMIM:154780
HP:0030084	Clinodactyly	6638	SNRPN	ORPHA:177907
HP:0030084	Clinodactyly	3767	KCNJ11	ORPHA:79134
HP:0030084	Clinodactyly	79731	NARS2	ORPHA:79134
HP:0030084	Clinodactyly	6833	ABCC8	ORPHA:79134
HP:0030084	Clinodactyly	5293	PIK3CD	ORPHA:221139
HP:0030084	Clinodactyly	90417	KNSTRN	ORPHA:221139
HP:0030085	Abnormal CSF lactate concentration	9131	AIFM1	ORPHA:238329
HP:0030085	Abnormal CSF lactate concentration	9131	AIFM1	OMIM:300816
HP:0030085	Abnormal CSF lactate concentration	4702	NDUFA8	OMIM:619272
HP:0030085	Abnormal CSF lactate concentration	10128	LRPPRC	OMIM:220111
HP:0030085	Abnormal CSF lactate concentration	10128	LRPPRC	ORPHA:70472
HP:0030085	Abnormal CSF lactate concentration	9997	SCO2	OMIM:604377
HP:0030085	Abnormal CSF lactate concentration	9997	SCO2	ORPHA:70474
HP:0030085	Abnormal CSF lactate concentration	4558	MT-TF	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4572	MT-TQ	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4512	MT-CO1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4513	MT-CO2	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4514	MT-CO3	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4578	MT-TW	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4578	MT-TW	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4540	MT-ND5	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4540	MT-ND5	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4541	MT-ND6	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4541	MT-ND6	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4538	MT-ND4	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4538	MT-ND4	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4567	MT-TL1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4567	MT-TL1	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4574	MT-TS1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4574	MT-TS1	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	4575	MT-TS2	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4564	MT-TH	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	54539	NDUFB11	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	25915	NDUFAF3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	25915	NDUFAF3	ORPHA:70474
HP:0030085	Abnormal CSF lactate concentration	25915	NDUFAF3	OMIM:618240
HP:0030085	Abnormal CSF lactate concentration	51103	NDUFAF1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	91942	NDUFAF2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	91942	NDUFAF2	OMIM:618233
HP:0030085	Abnormal CSF lactate concentration	91942	NDUFAF2	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	51300	TIMMDC1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4716	NDUFB10	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4723	NDUFV1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4723	NDUFV1	OMIM:618225
HP:0030085	Abnormal CSF lactate concentration	4723	NDUFV1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	55572	FOXRED1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	55572	FOXRED1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	284184	NDUFAF8	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	55863	TMEM126B	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4537	MT-ND3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4537	MT-ND3	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4729	NDUFV2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4729	NDUFV2	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4694	NDUFA1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4720	NDUFS2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4720	NDUFS2	ORPHA:70474
HP:0030085	Abnormal CSF lactate concentration	4720	NDUFS2	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4724	NDUFS4	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4724	NDUFS4	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4724	NDUFS4	OMIM:252010
HP:0030085	Abnormal CSF lactate concentration	4726	NDUFS6	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4728	NDUFS8	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4728	NDUFS8	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4722	NDUFS3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4722	NDUFS3	OMIM:618230
HP:0030085	Abnormal CSF lactate concentration	4722	NDUFS3	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	79133	NDUFAF5	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	79133	NDUFAF5	OMIM:618238
HP:0030085	Abnormal CSF lactate concentration	79133	NDUFAF5	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	126328	NDUFA11	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4709	NDUFB3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	80224	NUBPL	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	80224	NUBPL	OMIM:618242
HP:0030085	Abnormal CSF lactate concentration	29078	NDUFAF4	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	374291	NDUFS7	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	374291	NDUFS7	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4700	NDUFA6	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4700	NDUFA6	OMIM:618253
HP:0030085	Abnormal CSF lactate concentration	4536	MT-ND2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4536	MT-ND2	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4719	NDUFS1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4719	NDUFS1	OMIM:618226
HP:0030085	Abnormal CSF lactate concentration	4719	NDUFS1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4715	NDUFB9	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	57128	LYRM4	OMIM:615595
HP:0030085	Abnormal CSF lactate concentration	4570	MT-TN	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	6834	SURF1	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	6834	SURF1	ORPHA:70474
HP:0030085	Abnormal CSF lactate concentration	6834	SURF1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	64849	SLC13A3	OMIM:618384
HP:0030085	Abnormal CSF lactate concentration	92609	TIMM50	OMIM:617698
HP:0030085	Abnormal CSF lactate concentration	10059	DNM1L	OMIM:614388
HP:0030085	Abnormal CSF lactate concentration	6513	SLC2A1	OMIM:612126
HP:0030085	Abnormal CSF lactate concentration	85476	GFM1	OMIM:609060
HP:0030085	Abnormal CSF lactate concentration	4191	MDH2	OMIM:617339
HP:0030085	Abnormal CSF lactate concentration	84334	COA8	ORPHA:436271
HP:0030085	Abnormal CSF lactate concentration	90624	LYRM7	OMIM:615838
HP:0030085	Abnormal CSF lactate concentration	123263	MTFMT	OMIM:614947
HP:0030085	Abnormal CSF lactate concentration	123263	MTFMT	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	8659	ALDH4A1	ORPHA:79101
HP:0030085	Abnormal CSF lactate concentration	10667	FARS2	OMIM:614946
HP:0030085	Abnormal CSF lactate concentration	8050	PDHX	ORPHA:255182
HP:0030085	Abnormal CSF lactate concentration	4714	NDUFB8	ORPHA:70474
HP:0030085	Abnormal CSF lactate concentration	4714	NDUFB8	OMIM:618252
HP:0030085	Abnormal CSF lactate concentration	4577	MT-TV	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4508	MT-ATP6	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4566	MT-TK	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	51112	TRAPPC12	ORPHA:500144
HP:0030085	Abnormal CSF lactate concentration	128240	NAXE	OMIM:617186
HP:0030085	Abnormal CSF lactate concentration	291	SLC25A4	OMIM:617184
HP:0030085	Abnormal CSF lactate concentration	291	SLC25A4	OMIM:615418
HP:0030085	Abnormal CSF lactate concentration	65993	MRPS34	OMIM:617664
HP:0030085	Abnormal CSF lactate concentration	25828	TXN2	ORPHA:478029
HP:0030085	Abnormal CSF lactate concentration	25828	TXN2	OMIM:616811
HP:0030085	Abnormal CSF lactate concentration	5160	PDHA1	OMIM:312170
HP:0030085	Abnormal CSF lactate concentration	5160	PDHA1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	5160	PDHA1	ORPHA:79243
HP:0030085	Abnormal CSF lactate concentration	56997	COQ8A	ORPHA:139485
HP:0030085	Abnormal CSF lactate concentration	56997	COQ8A	OMIM:612016
HP:0030085	Abnormal CSF lactate concentration	1352	COX10	OMIM:619046
HP:0030085	Abnormal CSF lactate concentration	84340	GFM2	OMIM:618397
HP:0030085	Abnormal CSF lactate concentration	84340	GFM2	ORPHA:565624
HP:0030085	Abnormal CSF lactate concentration	54931	TRMT10C	OMIM:616974
HP:0030085	Abnormal CSF lactate concentration	539	ATP5PO	OMIM:620359
HP:0030085	Abnormal CSF lactate concentration	57038	RARS2	OMIM:611523
HP:0030085	Abnormal CSF lactate concentration	4204	MECP2	ORPHA:778
HP:0030085	Abnormal CSF lactate concentration	87178	PNPT1	ORPHA:319514
HP:0030085	Abnormal CSF lactate concentration	87178	PNPT1	OMIM:614932
HP:0030085	Abnormal CSF lactate concentration	1340	COX6B1	OMIM:619051
HP:0030085	Abnormal CSF lactate concentration	6389	SDHA	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	80704	SLC19A3	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	55967	NDUFA12	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	55967	NDUFA12	OMIM:618244
HP:0030085	Abnormal CSF lactate concentration	51204	TACO1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	137682	NDUFAF6	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	100131801	PET100	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	100131801	PET100	OMIM:619055
HP:0030085	Abnormal CSF lactate concentration	1355	COX15	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	1892	ECHS1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	1892	ECHS1	OMIM:616277
HP:0030085	Abnormal CSF lactate concentration	51079	NDUFA13	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4705	NDUFA10	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4705	NDUFA10	OMIM:618243
HP:0030085	Abnormal CSF lactate concentration	51601	LIPT1	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4695	NDUFA2	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4697	NDUFA4	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	4697	NDUFA4	OMIM:619065
HP:0030085	Abnormal CSF lactate concentration	4704	NDUFA9	ORPHA:255241
HP:0030085	Abnormal CSF lactate concentration	84987	COX14	OMIM:619053
HP:0030085	Abnormal CSF lactate concentration	1351	COX8A	OMIM:619059
HP:0030085	Abnormal CSF lactate concentration	4358	MPV17	OMIM:618400
HP:0030085	Abnormal CSF lactate concentration	116228	COX20	OMIM:619054
HP:0030085	Abnormal CSF lactate concentration	200205	IBA57	OMIM:615330
HP:0030085	Abnormal CSF lactate concentration	60386	SLC25A19	OMIM:613710
HP:0030085	Abnormal CSF lactate concentration	55157	DARS2	ORPHA:137898
HP:0030085	Abnormal CSF lactate concentration	55005	RMND1	OMIM:614922
HP:0030085	Abnormal CSF lactate concentration	64116	SLC39A8	ORPHA:468699
HP:0030085	Abnormal CSF lactate concentration	9361	LONP1	ORPHA:79243
HP:0030085	Abnormal CSF lactate concentration	91647	ATPAF2	OMIM:604273
HP:0030085	Abnormal CSF lactate concentration	8802	SUCLG1	OMIM:245400
HP:0030085	Abnormal CSF lactate concentration	8802	SUCLG1	ORPHA:17
HP:0030085	Abnormal CSF lactate concentration	100303755	PET117	OMIM:619063
HP:0030085	Abnormal CSF lactate concentration	27247	NFU1	OMIM:605711
HP:0030085	Abnormal CSF lactate concentration	1327	COX4I1	OMIM:619060
HP:0030085	Abnormal CSF lactate concentration	84842	HPDL	OMIM:619026
HP:0030085	Abnormal CSF lactate concentration	81570	CLPB	OMIM:616271
HP:0030085	Abnormal CSF lactate concentration	8803	SUCLA2	OMIM:612073
HP:0030085	Abnormal CSF lactate concentration	790955	UQCC3	OMIM:616111
HP:0030085	Abnormal CSF lactate concentration	133686	NADK2	OMIM:616034
HP:0030085	Abnormal CSF lactate concentration	50484	RRM2B	OMIM:612075
HP:0030085	Abnormal CSF lactate concentration	27429	HTRA2	OMIM:617248
HP:0030085	Abnormal CSF lactate concentration	84300	UQCC2	OMIM:615824
HP:0030085	Abnormal CSF lactate concentration	79731	NARS2	OMIM:616239
HP:0030085	Abnormal CSF lactate concentration	27010	TPK1	OMIM:614458
HP:0030085	Abnormal CSF lactate concentration	3028	HSD17B10	ORPHA:391428
HP:0030087	Abnormal circulating testosterone concentration	6875	TAF4B	OMIM:615841
HP:0030087	Abnormal circulating testosterone concentration	84225	ZMYND15	OMIM:615842
HP:0030087	Abnormal circulating testosterone concentration	2099	ESR1	ORPHA:785
HP:0030087	Abnormal circulating testosterone concentration	93426	SYCE1	OMIM:616950
HP:0030087	Abnormal circulating testosterone concentration	8468	FKBP6	OMIM:620103
HP:0030087	Abnormal circulating testosterone concentration	4438	MSH4	OMIM:108420
HP:0030087	Abnormal circulating testosterone concentration	201134	CEP112	OMIM:619044
HP:0030087	Abnormal circulating testosterone concentration	2778	GNAS	ORPHA:562
HP:0030087	Abnormal circulating testosterone concentration	1584	CYP11B1	OMIM:202010
HP:0030087	Abnormal circulating testosterone concentration	1584	CYP11B1	ORPHA:90795
HP:0030087	Abnormal circulating testosterone concentration	7026	NR2F2	OMIM:618901
HP:0030087	Abnormal circulating testosterone concentration	2908	NR3C1	OMIM:615962
HP:0030087	Abnormal circulating testosterone concentration	367	AR	ORPHA:90797
HP:0030087	Abnormal circulating testosterone concentration	367	AR	ORPHA:99429
HP:0030087	Abnormal circulating testosterone concentration	54361	WNT4	ORPHA:247768
HP:0030087	Abnormal circulating testosterone concentration	5573	PRKAR1A	OMIM:610489
HP:0030087	Abnormal circulating testosterone concentration	3643	INSR	ORPHA:769
HP:0030087	Abnormal circulating testosterone concentration	2492	FSHR	ORPHA:64739
HP:0030087	Abnormal circulating testosterone concentration	11128	POLR3A	OMIM:264090
HP:0030087	Abnormal circulating testosterone concentration	11128	POLR3A	ORPHA:3455
HP:0030087	Abnormal circulating testosterone concentration	3284	HSD3B2	ORPHA:90791
HP:0030087	Abnormal circulating testosterone concentration	2260	FGFR1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	81848	SPRY4	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	128674	PROKR2	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2253	FGF8	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	60675	PROK2	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55636	CHD7	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6870	TACR3	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	1848	DUSP6	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	26012	NSMF	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55717	WDR11	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	9394	HS6ST1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2796	GNRH1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2796	GNRH1	OMIM:614841
HP:0030087	Abnormal circulating testosterone concentration	2798	GNRHR	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	84634	KISS1R	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6866	TAC3	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6866	TAC3	OMIM:614839
HP:0030087	Abnormal circulating testosterone concentration	8822	FGF17	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	3814	KISS1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55131	RBM28	ORPHA:157954
HP:0030087	Abnormal circulating testosterone concentration	2245	FGD1	OMIM:305400
HP:0030087	Abnormal circulating testosterone concentration	23312	DMXL2	ORPHA:453533
HP:0030087	Abnormal circulating testosterone concentration	57647	DHX37	OMIM:273250
HP:0030087	Abnormal circulating testosterone concentration	57647	DHX37	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	8314	BAP1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	4771	NF2	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6598	SMARCB1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	5155	PDGFB	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	84231	TRAF7	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6608	SMO	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	207	AKT1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	5290	PIK3CA	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	7015	TERT	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	51684	SUFU	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6605	SMARCE1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	80067	DCAF17	ORPHA:3464
HP:0030087	Abnormal circulating testosterone concentration	80067	DCAF17	OMIM:241080
HP:0030087	Abnormal circulating testosterone concentration	2488	FSHB	ORPHA:52901
HP:0030087	Abnormal circulating testosterone concentration	3972	LHB	OMIM:228300
HP:0030087	Abnormal circulating testosterone concentration	1528	CYB5A	ORPHA:90796
HP:0030087	Abnormal circulating testosterone concentration	1586	CYP17A1	ORPHA:90796
HP:0030087	Abnormal circulating testosterone concentration	1586	CYP17A1	ORPHA:90793
HP:0030087	Abnormal circulating testosterone concentration	1363	CPE	OMIM:619326
HP:0030087	Abnormal circulating testosterone concentration	3952	LEP	ORPHA:66628
HP:0030087	Abnormal circulating testosterone concentration	5422	POLA1	ORPHA:163976
HP:0030087	Abnormal circulating testosterone concentration	79625	NDNF	OMIM:618841
HP:0030087	Abnormal circulating testosterone concentration	57697	FANCM	OMIM:618086
HP:0030087	Abnormal circulating testosterone concentration	654	BMP6	ORPHA:465508
HP:0030087	Abnormal circulating testosterone concentration	3077	HFE	ORPHA:465508
HP:0030087	Abnormal circulating testosterone concentration	55366	LGR4	OMIM:619613
HP:0030087	Abnormal circulating testosterone concentration	2583	B4GALNT1	ORPHA:101006
HP:0030087	Abnormal circulating testosterone concentration	2583	B4GALNT1	OMIM:609195
HP:0030087	Abnormal circulating testosterone concentration	3730	ANOS1	OMIM:308700
HP:0030087	Abnormal circulating testosterone concentration	93953	GCNA	OMIM:301077
HP:0030087	Abnormal circulating testosterone concentration	55630	SLC39A4	OMIM:201100
HP:0030087	Abnormal circulating testosterone concentration	389549	FEZF1	OMIM:616030
HP:0030087	Abnormal circulating testosterone concentration	6736	SRY	ORPHA:1772
HP:0030087	Abnormal circulating testosterone concentration	6736	SRY	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	3953	LEPR	ORPHA:179494
HP:0030087	Abnormal circulating testosterone concentration	6662	SOX9	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	6845	VAMP7	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	51741	WWOX	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	4214	MAP3K1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	2516	NR5A1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	7490	WT1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	58524	DMRT3	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	23414	ZFPM2	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	190	NR0B1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	2626	GATA4	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	10371	SEMA3A	OMIM:614897
HP:0030087	Abnormal circulating testosterone concentration	50846	DHH	ORPHA:168563
HP:0030088	Increased serum testosterone level	2778	GNAS	ORPHA:562
HP:0030088	Increased serum testosterone level	1584	CYP11B1	OMIM:202010
HP:0030088	Increased serum testosterone level	1584	CYP11B1	ORPHA:90795
HP:0030088	Increased serum testosterone level	7026	NR2F2	OMIM:618901
HP:0030088	Increased serum testosterone level	2908	NR3C1	OMIM:615962
HP:0030088	Increased serum testosterone level	367	AR	ORPHA:90797
HP:0030088	Increased serum testosterone level	367	AR	ORPHA:99429
HP:0030088	Increased serum testosterone level	54361	WNT4	ORPHA:247768
HP:0030088	Increased serum testosterone level	5573	PRKAR1A	OMIM:610489
HP:0030088	Increased serum testosterone level	3643	INSR	ORPHA:769
HP:0030088	Increased serum testosterone level	2492	FSHR	ORPHA:64739
HP:0030088	Increased serum testosterone level	11128	POLR3A	OMIM:264090
HP:0030088	Increased serum testosterone level	11128	POLR3A	ORPHA:3455
HP:0030088	Increased serum testosterone level	3284	HSD3B2	ORPHA:90791
HP:0030089	Abnormal muscle fiber protein expression	9570	GOSR2	OMIM:620166
HP:0030089	Abnormal muscle fiber protein expression	859	CAV3	ORPHA:488650
HP:0030089	Abnormal muscle fiber protein expression	2671	GFER	ORPHA:330054
HP:0030089	Abnormal muscle fiber protein expression	57190	SELENON	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	4625	MYH7	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	7273	TTN	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	3908	LAMA2	ORPHA:258
HP:0030089	Abnormal muscle fiber protein expression	1291	COL6A1	OMIM:254090
HP:0030089	Abnormal muscle fiber protein expression	1291	COL6A1	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1292	COL6A2	OMIM:254090
HP:0030089	Abnormal muscle fiber protein expression	1292	COL6A2	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1293	COL6A3	OMIM:254090
HP:0030089	Abnormal muscle fiber protein expression	1293	COL6A3	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1303	COL12A1	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1756	DMD	ORPHA:206546
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	79147	FKRP	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	79147	FKRP	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	79147	FKRP	ORPHA:34515
HP:0030089	Abnormal muscle fiber protein expression	79147	FKRP	ORPHA:370980
HP:0030089	Abnormal muscle fiber protein expression	29954	POMT2	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	29954	POMT2	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	29954	POMT2	ORPHA:206559
HP:0030089	Abnormal muscle fiber protein expression	9215	LARGE1	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	ORPHA:370980
HP:0030089	Abnormal muscle fiber protein expression	84197	POMK	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	55624	POMGNT1	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	1605	DAG1	ORPHA:280333
HP:0030089	Abnormal muscle fiber protein expression	2218	FKTN	ORPHA:370980
HP:0030089	Abnormal muscle fiber protein expression	729920	CRPPA	ORPHA:370980
HP:0030089	Abnormal muscle fiber protein expression	8291	DYSF	ORPHA:178400
HP:0030089	Abnormal muscle fiber protein expression	4000	LMNA	ORPHA:98855
HP:0030089	Abnormal muscle fiber protein expression	4000	LMNA	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	2273	FHL1	ORPHA:98863
HP:0030089	Abnormal muscle fiber protein expression	2010	EMD	ORPHA:98863
HP:0030089	Abnormal muscle fiber protein expression	79188	TMEM43	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	23345	SYNE1	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	23224	SYNE2	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	1410	CRYAB	ORPHA:399058
HP:0030089	Abnormal muscle fiber protein expression	9499	MYOT	ORPHA:98911
HP:0030090	Abnormal muscle fiber merosin expression	57190	SELENON	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	4625	MYH7	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	7273	TTN	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	3908	LAMA2	ORPHA:258
HP:0030090	Abnormal muscle fiber merosin expression	79147	FKRP	ORPHA:34515
HP:0030091	Absent muscle fiber merosin	57190	SELENON	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	4625	MYH7	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	7273	TTN	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	3908	LAMA2	ORPHA:258
HP:0030092	Reduced muscle fiber merosin	79147	FKRP	ORPHA:34515
HP:0030095	Reduced muscle collagen VI	1291	COL6A1	OMIM:254090
HP:0030095	Reduced muscle collagen VI	1291	COL6A1	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1292	COL6A2	OMIM:254090
HP:0030095	Reduced muscle collagen VI	1292	COL6A2	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1293	COL6A3	OMIM:254090
HP:0030095	Reduced muscle collagen VI	1293	COL6A3	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1303	COL12A1	ORPHA:610
HP:0030096	Abnormal muscle fiber dystrophin expression	1756	DMD	ORPHA:206546
HP:0030097	Absent muscle dystrophin expression	1756	DMD	ORPHA:206546
HP:0030099	Reduced muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:34515
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:206559
HP:0030099	Reduced muscle fiber alpha dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	84197	POMK	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	1605	DAG1	ORPHA:280333
HP:0030099	Reduced muscle fiber alpha dystroglycan	2218	FKTN	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	729920	CRPPA	ORPHA:370980
HP:0011900	Hypofibrinogenemia	9056	SLC7A7	ORPHA:470
HP:0011900	Hypofibrinogenemia	201294	UNC13D	OMIM:608898
HP:0011900	Hypofibrinogenemia	201294	UNC13D	ORPHA:540
HP:0011900	Hypofibrinogenemia	2243	FGA	OMIM:202400
HP:0011900	Hypofibrinogenemia	2244	FGB	OMIM:202400
HP:0011900	Hypofibrinogenemia	2266	FGG	OMIM:202400
HP:0011900	Hypofibrinogenemia	9630	GNA14	ORPHA:1063
HP:0011900	Hypofibrinogenemia	55388	MCM10	OMIM:619313
HP:0011900	Hypofibrinogenemia	331	XIAP	OMIM:300635
HP:0011900	Hypofibrinogenemia	2038	EPB42	ORPHA:822
HP:0011900	Hypofibrinogenemia	6521	SLC4A1	ORPHA:822
HP:0011900	Hypofibrinogenemia	6710	SPTB	ORPHA:822
HP:0011900	Hypofibrinogenemia	6708	SPTA1	ORPHA:822
HP:0011900	Hypofibrinogenemia	286	ANK1	ORPHA:822
HP:0011900	Hypofibrinogenemia	1130	LYST	ORPHA:167
HP:0011900	Hypofibrinogenemia	5551	PRF1	ORPHA:540
HP:0011900	Hypofibrinogenemia	5551	PRF1	OMIM:603553
HP:0011900	Hypofibrinogenemia	8676	STX11	ORPHA:540
HP:0011900	Hypofibrinogenemia	8676	STX11	OMIM:603552
HP:0011900	Hypofibrinogenemia	6813	STXBP2	ORPHA:540
HP:0011900	Hypofibrinogenemia	6774	STAT3	ORPHA:520
HP:0011900	Hypofibrinogenemia	5371	PML	ORPHA:520
HP:0011900	Hypofibrinogenemia	5914	RARA	ORPHA:520
HP:0011900	Hypofibrinogenemia	359948	IRF2BP2	ORPHA:520
HP:0011900	Hypofibrinogenemia	81608	FIP1L1	ORPHA:520
HP:0011900	Hypofibrinogenemia	4869	NPM1	ORPHA:520
HP:0011900	Hypofibrinogenemia	5573	PRKAR1A	ORPHA:520
HP:0011900	Hypofibrinogenemia	54880	BCOR	ORPHA:520
HP:0011900	Hypofibrinogenemia	64859	NABP1	ORPHA:520
HP:0011900	Hypofibrinogenemia	6777	STAT5B	ORPHA:520
HP:0011900	Hypofibrinogenemia	4926	NUMA1	ORPHA:520
HP:0011900	Hypofibrinogenemia	7704	ZBTB16	ORPHA:520
HP:0011900	Hypofibrinogenemia	79718	TBL1XR1	ORPHA:520
HP:0011900	Hypofibrinogenemia	58484	NLRC4	OMIM:616050
HP:0011900	Hypofibrinogenemia	191	AHCY	ORPHA:88618
HP:0011900	Hypofibrinogenemia	84868	HAVCR2	OMIM:618398
HP:0011900	Hypofibrinogenemia	3075	CFH	ORPHA:244242
HP:0011900	Hypofibrinogenemia	3426	CFI	ORPHA:244242
HP:0011900	Hypofibrinogenemia	4179	CD46	ORPHA:244242
HP:0011900	Hypofibrinogenemia	101101692	HELLPAR	ORPHA:244242
HP:0011900	Hypofibrinogenemia	2542	SLC37A4	OMIM:619525
HP:0011900	Hypofibrinogenemia	55768	NGLY1	ORPHA:404454
HP:0011902	Abnormal hemoglobin	4352	MPL	ORPHA:3319
HP:0011902	Abnormal hemoglobin	7066	THPO	ORPHA:3319
HP:0011902	Abnormal hemoglobin	2623	GATA1	ORPHA:231393
HP:0011902	Abnormal hemoglobin	2057	EPOR	ORPHA:90042
HP:0011902	Abnormal hemoglobin	3045	HBD	ORPHA:231237
HP:0011902	Abnormal hemoglobin	3047	HBG1	ORPHA:231237
HP:0011902	Abnormal hemoglobin	5631	PRPS1	ORPHA:423479
HP:0011902	Abnormal hemoglobin	6135	RPL11	ORPHA:124
HP:0011902	Abnormal hemoglobin	6138	RPL15	ORPHA:124
HP:0011902	Abnormal hemoglobin	6229	RPS24	ORPHA:124
HP:0011902	Abnormal hemoglobin	6229	RPS24	OMIM:610629
HP:0011902	Abnormal hemoglobin	6125	RPL5	ORPHA:124
HP:0011902	Abnormal hemoglobin	6125	RPL5	OMIM:612561
HP:0011902	Abnormal hemoglobin	6204	RPS10	ORPHA:124
HP:0011902	Abnormal hemoglobin	6224	RPS20	ORPHA:124
HP:0011902	Abnormal hemoglobin	6165	RPL35A	ORPHA:124
HP:0011902	Abnormal hemoglobin	6223	RPS19	ORPHA:124
HP:0011902	Abnormal hemoglobin	6223	RPS19	OMIM:105650
HP:0011902	Abnormal hemoglobin	6232	RPS27	ORPHA:124
HP:0011902	Abnormal hemoglobin	6231	RPS26	ORPHA:124
HP:0011902	Abnormal hemoglobin	11224	RPL35	ORPHA:124
HP:0011902	Abnormal hemoglobin	6160	RPL31	ORPHA:124
HP:0011902	Abnormal hemoglobin	6218	RPS17	ORPHA:124
HP:0011902	Abnormal hemoglobin	6201	RPS7	ORPHA:124
HP:0011902	Abnormal hemoglobin	6155	RPL27	ORPHA:124
HP:0011902	Abnormal hemoglobin	6154	RPL26	ORPHA:124
HP:0011902	Abnormal hemoglobin	6210	RPS15A	ORPHA:124
HP:0011902	Abnormal hemoglobin	90121	TSR2	ORPHA:124
HP:0011902	Abnormal hemoglobin	90121	TSR2	OMIM:300946
HP:0011902	Abnormal hemoglobin	6141	RPL18	ORPHA:124
HP:0011902	Abnormal hemoglobin	6235	RPS29	ORPHA:124
HP:0011902	Abnormal hemoglobin	6234	RPS28	ORPHA:124
HP:0011902	Abnormal hemoglobin	51816	ADA2	ORPHA:124
HP:0011902	Abnormal hemoglobin	3048	HBG2	OMIM:141749
HP:0011902	Abnormal hemoglobin	3048	HBG2	ORPHA:46532
HP:0011902	Abnormal hemoglobin	3048	HBG2	ORPHA:251380
HP:0011902	Abnormal hemoglobin	10661	KLF1	ORPHA:46532
HP:0011902	Abnormal hemoglobin	10661	KLF1	OMIM:613673
HP:0011902	Abnormal hemoglobin	10661	KLF1	ORPHA:251380
HP:0011902	Abnormal hemoglobin	134218	DNAJC21	OMIM:617052
HP:0011902	Abnormal hemoglobin	134218	DNAJC21	OMIM:260400
HP:0011902	Abnormal hemoglobin	51119	SBDS	OMIM:260400
HP:0011902	Abnormal hemoglobin	6729	SRP54	OMIM:260400
HP:0011902	Abnormal hemoglobin	53335	BCL11A	OMIM:617101
HP:0011902	Abnormal hemoglobin	53335	BCL11A	ORPHA:251380
HP:0011902	Abnormal hemoglobin	4194	MDM4	OMIM:618849
HP:0011902	Abnormal hemoglobin	51341	ZBTB7A	OMIM:619769
HP:0011902	Abnormal hemoglobin	3043	HBB	ORPHA:90039
HP:0011902	Abnormal hemoglobin	3043	HBB	OMIM:613985
HP:0011902	Abnormal hemoglobin	3040	HBA2	OMIM:604131
HP:0011902	Abnormal hemoglobin	3040	HBA2	OMIM:613978
HP:0011902	Abnormal hemoglobin	3039	HBA1	OMIM:604131
HP:0011902	Abnormal hemoglobin	3039	HBA1	OMIM:613978
HP:0011902	Abnormal hemoglobin	546	ATRX	OMIM:301040
HP:0011902	Abnormal hemoglobin	546	ATRX	OMIM:300448
HP:0011902	Abnormal hemoglobin	1727	CYB5R3	OMIM:250800
HP:0011902	Abnormal hemoglobin	1727	CYB5R3	ORPHA:621
HP:0011902	Abnormal hemoglobin	1528	CYB5A	ORPHA:621
HP:0011902	Abnormal hemoglobin	1528	CYB5A	OMIM:250790
HP:0011902	Abnormal hemoglobin	3767	KCNJ11	ORPHA:552
HP:0011902	Abnormal hemoglobin	3767	KCNJ11	OMIM:610582
HP:0011902	Abnormal hemoglobin	3767	KCNJ11	OMIM:616329
HP:0011902	Abnormal hemoglobin	3767	KCNJ11	ORPHA:79134
HP:0011902	Abnormal hemoglobin	8462	KLF11	ORPHA:552
HP:0011902	Abnormal hemoglobin	2645	GCK	ORPHA:552
HP:0011902	Abnormal hemoglobin	2645	GCK	OMIM:606176
HP:0011902	Abnormal hemoglobin	26060	APPL1	ORPHA:552
HP:0011902	Abnormal hemoglobin	26060	APPL1	OMIM:616511
HP:0011902	Abnormal hemoglobin	640	BLK	ORPHA:552
HP:0011902	Abnormal hemoglobin	1056	CEL	ORPHA:552
HP:0011902	Abnormal hemoglobin	1056	CEL	OMIM:609812
HP:0011902	Abnormal hemoglobin	4760	NEUROD1	ORPHA:552
HP:0011902	Abnormal hemoglobin	3651	PDX1	ORPHA:552
HP:0011902	Abnormal hemoglobin	6833	ABCC8	ORPHA:552
HP:0011902	Abnormal hemoglobin	6833	ABCC8	ORPHA:79134
HP:0011902	Abnormal hemoglobin	5078	PAX4	ORPHA:552
HP:0011902	Abnormal hemoglobin	3172	HNF4A	ORPHA:552
HP:0011902	Abnormal hemoglobin	6927	HNF1A	ORPHA:552
HP:0011902	Abnormal hemoglobin	3630	INS	ORPHA:552
HP:0011902	Abnormal hemoglobin	3630	INS	OMIM:618858
HP:0011902	Abnormal hemoglobin	5611	DNAJC3	OMIM:616192
HP:0011902	Abnormal hemoglobin	6524	SLC5A2	ORPHA:69076
HP:0011902	Abnormal hemoglobin	81555	YIPF5	OMIM:619278
HP:0011902	Abnormal hemoglobin	286053	NSMCE2	OMIM:617253
HP:0011902	Abnormal hemoglobin	63036	CELA2A	OMIM:618620
HP:0011902	Abnormal hemoglobin	10651	MTX2	OMIM:619127
HP:0011902	Abnormal hemoglobin	23312	DMXL2	OMIM:616113
HP:0011902	Abnormal hemoglobin	26580	BSCL2	OMIM:269700
HP:0011902	Abnormal hemoglobin	641	BLM	OMIM:210900
HP:0011902	Abnormal hemoglobin	57570	TRMT5	OMIM:616539
HP:0011902	Abnormal hemoglobin	7486	WRN	OMIM:277700
HP:0011902	Abnormal hemoglobin	79731	NARS2	ORPHA:79134
HP:0011903	HbH hemoglobin	5631	PRPS1	ORPHA:423479
HP:0011903	HbH hemoglobin	3039	HBA1	ORPHA:98791
HP:0011903	HbH hemoglobin	3039	HBA1	OMIM:613978
HP:0011903	HbH hemoglobin	3040	HBA2	ORPHA:98791
HP:0011903	HbH hemoglobin	3040	HBA2	OMIM:613978
HP:0011903	HbH hemoglobin	546	ATRX	OMIM:301040
HP:0011903	HbH hemoglobin	546	ATRX	ORPHA:231401
HP:0011903	HbH hemoglobin	546	ATRX	OMIM:300448
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:232
HP:0011904	Persistence of hemoglobin F	3043	HBB	OMIM:141749
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:231222
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:46532
HP:0011904	Persistence of hemoglobin F	3043	HBB	OMIM:603902
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:231226
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:231214
HP:0011904	Persistence of hemoglobin F	3043	HBB	ORPHA:251380
HP:0011904	Persistence of hemoglobin F	6135	RPL11	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6138	RPL15	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6229	RPS24	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6229	RPS24	OMIM:610629
HP:0011904	Persistence of hemoglobin F	6125	RPL5	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6125	RPL5	OMIM:612561
HP:0011904	Persistence of hemoglobin F	6204	RPS10	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6224	RPS20	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6165	RPL35A	ORPHA:124
HP:0011904	Persistence of hemoglobin F	2623	GATA1	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6223	RPS19	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6223	RPS19	OMIM:105650
HP:0011904	Persistence of hemoglobin F	6232	RPS27	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6231	RPS26	ORPHA:124
HP:0011904	Persistence of hemoglobin F	11224	RPL35	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6160	RPL31	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6218	RPS17	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6201	RPS7	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6155	RPL27	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6154	RPL26	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6210	RPS15A	ORPHA:124
HP:0011904	Persistence of hemoglobin F	90121	TSR2	ORPHA:124
HP:0011904	Persistence of hemoglobin F	90121	TSR2	OMIM:300946
HP:0011904	Persistence of hemoglobin F	6141	RPL18	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6235	RPS29	ORPHA:124
HP:0011904	Persistence of hemoglobin F	6234	RPS28	ORPHA:124
HP:0011904	Persistence of hemoglobin F	51816	ADA2	ORPHA:124
HP:0011904	Persistence of hemoglobin F	3047	HBG1	OMIM:141749
HP:0011904	Persistence of hemoglobin F	3047	HBG1	ORPHA:46532
HP:0011904	Persistence of hemoglobin F	3047	HBG1	ORPHA:251380
HP:0011904	Persistence of hemoglobin F	3048	HBG2	OMIM:141749
HP:0011904	Persistence of hemoglobin F	3048	HBG2	ORPHA:46532
HP:0011904	Persistence of hemoglobin F	3048	HBG2	ORPHA:251380
HP:0011904	Persistence of hemoglobin F	10661	KLF1	ORPHA:46532
HP:0011904	Persistence of hemoglobin F	10661	KLF1	OMIM:613673
HP:0011904	Persistence of hemoglobin F	10661	KLF1	ORPHA:251380
HP:0011904	Persistence of hemoglobin F	134218	DNAJC21	OMIM:617052
HP:0011904	Persistence of hemoglobin F	134218	DNAJC21	OMIM:260400
HP:0011904	Persistence of hemoglobin F	51119	SBDS	OMIM:260400
HP:0011904	Persistence of hemoglobin F	6729	SRP54	OMIM:260400
HP:0011904	Persistence of hemoglobin F	53335	BCL11A	OMIM:617101
HP:0011904	Persistence of hemoglobin F	53335	BCL11A	ORPHA:251380
HP:0011904	Persistence of hemoglobin F	4194	MDM4	OMIM:618849
HP:0011904	Persistence of hemoglobin F	51341	ZBTB7A	OMIM:619769
HP:0011905	Reduced hemoglobin A	3043	HBB	ORPHA:90039
HP:0011905	Reduced hemoglobin A	3043	HBB	ORPHA:2133
HP:0011905	Reduced hemoglobin A	3043	HBB	ORPHA:231226
HP:0011905	Reduced hemoglobin A	3043	HBB	ORPHA:231214
HP:0011906	Reduced beta/alpha synthesis ratio	3043	HBB	ORPHA:90039
HP:0011906	Reduced beta/alpha synthesis ratio	3043	HBB	OMIM:613985
HP:0011907	Reduced alpha/beta synthesis ratio	3043	HBB	ORPHA:90039
HP:0011907	Reduced alpha/beta synthesis ratio	3043	HBB	OMIM:604131
HP:0011907	Reduced alpha/beta synthesis ratio	3040	HBA2	OMIM:604131
HP:0011907	Reduced alpha/beta synthesis ratio	3040	HBA2	OMIM:613978
HP:0011907	Reduced alpha/beta synthesis ratio	3039	HBA1	OMIM:604131
HP:0011907	Reduced alpha/beta synthesis ratio	3039	HBA1	OMIM:613978
HP:0011907	Reduced alpha/beta synthesis ratio	546	ATRX	OMIM:301040
HP:0011907	Reduced alpha/beta synthesis ratio	546	ATRX	OMIM:300448
HP:0011908	Unilateral radial aplasia	6154	RPL26	OMIM:614900
HP:0011908	Unilateral radial aplasia	7204	TRIO	ORPHA:476126
HP:0011909	Flattened metacarpal heads	10216	PRG4	OMIM:208250
HP:0011910	Shortening of all phalanges of fingers	6662	SOX9	OMIM:114290
HP:0011910	Shortening of all phalanges of fingers	1009	CDH11	OMIM:211380
HP:0011910	Shortening of all phalanges of fingers	7227	TRPS1	ORPHA:77258
HP:0011911	Abnormal metacarpophalangeal joint morphology	9241	NOG	ORPHA:3250
HP:0011911	Abnormal metacarpophalangeal joint morphology	9241	NOG	OMIM:185800
HP:0011911	Abnormal metacarpophalangeal joint morphology	8200	GDF5	ORPHA:3250
HP:0011911	Abnormal metacarpophalangeal joint morphology	171023	ASXL1	ORPHA:97297
HP:0011911	Abnormal metacarpophalangeal joint morphology	11342	RNF13	ORPHA:544503
HP:0011911	Abnormal metacarpophalangeal joint morphology	2316	FLNA	ORPHA:1826
HP:0011911	Abnormal metacarpophalangeal joint morphology	6885	MAP3K7	ORPHA:1826
HP:0011911	Abnormal metacarpophalangeal joint morphology	29895	MYL11	OMIM:619110
HP:0011911	Abnormal metacarpophalangeal joint morphology	1281	COL3A1	OMIM:130050
HP:0011911	Abnormal metacarpophalangeal joint morphology	9469	CHST3	OMIM:245600
HP:0011911	Abnormal metacarpophalangeal joint morphology	26229	B3GAT3	OMIM:245600
HP:0011911	Abnormal metacarpophalangeal joint morphology	2332	FMR1	OMIM:300624
HP:0011911	Abnormal metacarpophalangeal joint morphology	10084	PQBP1	OMIM:309500
HP:0011911	Abnormal metacarpophalangeal joint morphology	4841	NONO	OMIM:300967
HP:0011911	Abnormal metacarpophalangeal joint morphology	10804	GJB6	ORPHA:189
HP:0011911	Abnormal metacarpophalangeal joint morphology	654	BMP6	ORPHA:465508
HP:0011911	Abnormal metacarpophalangeal joint morphology	3077	HFE	ORPHA:465508
HP:0011911	Abnormal metacarpophalangeal joint morphology	6775	STAT4	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	3560	IL2RB	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	79722	ANKRD55	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	26191	PTPN22	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	919	CD247	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	3559	IL2RA	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	5771	PTPN2	ORPHA:85408
HP:0011911	Abnormal metacarpophalangeal joint morphology	1280	COL2A1	ORPHA:166011
HP:0011911	Abnormal metacarpophalangeal joint morphology	5447	POR	ORPHA:95699
HP:0011912	Abnormality of the glenoid fossa	54808	DYM	OMIM:223800
HP:0011912	Abnormality of the glenoid fossa	388015	RTL1	ORPHA:96334
HP:0011912	Abnormality of the glenoid fossa	8788	DLK1	ORPHA:96334
HP:0011912	Abnormality of the glenoid fossa	55384	MEG3	ORPHA:96334
HP:0011912	Abnormality of the glenoid fossa	4998	ORC1	OMIM:224690
HP:0011912	Abnormality of the glenoid fossa	4010	LMX1B	OMIM:161200
HP:0011912	Abnormality of the glenoid fossa	26175	LYSET	OMIM:619345
HP:0011912	Abnormality of the glenoid fossa	91179	SCARF2	OMIM:600920
HP:0011913	Lumbar hypertrichosis	55627	SMPD4	OMIM:618622
HP:0011913	Lumbar hypertrichosis	7319	UBE2A	ORPHA:163956
HP:0011914	Thoracic hypertrichosis	2783	GNB2	OMIM:619503
HP:0011914	Thoracic hypertrichosis	57003	CCDC47	OMIM:618268
HP:0011915	Cardiovascular calcification	6575	SLC20A2	OMIM:213600
HP:0011915	Cardiovascular calcification	5155	PDGFB	OMIM:213600
HP:0011915	Cardiovascular calcification	5159	PDGFRB	OMIM:213600
HP:0011915	Cardiovascular calcification	23586	RIGI	OMIM:616298
HP:0011915	Cardiovascular calcification	3081	HGD	ORPHA:56
HP:0011915	Cardiovascular calcification	3081	HGD	OMIM:203500
HP:0011915	Cardiovascular calcification	4000	LMNA	ORPHA:363618
HP:0011915	Cardiovascular calcification	4000	LMNA	ORPHA:740
HP:0011915	Cardiovascular calcification	10269	ZMPSTE24	ORPHA:740
HP:0011915	Cardiovascular calcification	10651	MTX2	OMIM:619127
HP:0011915	Cardiovascular calcification	1161	ERCC8	ORPHA:90324
HP:0011915	Cardiovascular calcification	2074	ERCC6	ORPHA:90324
HP:0011915	Cardiovascular calcification	2591	GALNT3	OMIM:211900
HP:0011915	Cardiovascular calcification	4851	NOTCH1	ORPHA:402075
HP:0011915	Cardiovascular calcification	1482	NKX2-5	ORPHA:402075
HP:0011915	Cardiovascular calcification	140628	GATA5	ORPHA:402075
HP:0011915	Cardiovascular calcification	3949	LDLR	ORPHA:391665
HP:0011915	Cardiovascular calcification	255738	PCSK9	ORPHA:391665
HP:0011915	Cardiovascular calcification	26119	LDLRAP1	ORPHA:391665
HP:0011915	Cardiovascular calcification	338	APOB	ORPHA:391665
HP:0011915	Cardiovascular calcification	64240	ABCG5	ORPHA:391665
HP:0011915	Cardiovascular calcification	64241	ABCG8	ORPHA:391665
HP:0011915	Cardiovascular calcification	2629	GBA1	OMIM:231005
HP:0011915	Cardiovascular calcification	2629	GBA1	ORPHA:2072
HP:0011915	Cardiovascular calcification	4091	SMAD6	OMIM:614823
HP:0011915	Cardiovascular calcification	10568	SLC34A2	ORPHA:60025
HP:0011915	Cardiovascular calcification	10535	RNASEH2A	ORPHA:51
HP:0011915	Cardiovascular calcification	84153	RNASEH2C	ORPHA:51
HP:0011915	Cardiovascular calcification	25939	SAMHD1	ORPHA:51
HP:0011915	Cardiovascular calcification	79621	RNASEH2B	ORPHA:51
HP:0011915	Cardiovascular calcification	103	ADAR	ORPHA:51
HP:0011915	Cardiovascular calcification	11277	TREX1	ORPHA:51
HP:0011915	Cardiovascular calcification	100147744	RNU7-1	ORPHA:51
HP:0011915	Cardiovascular calcification	134353	LSM11	ORPHA:51
HP:0011915	Cardiovascular calcification	64135	IFIH1	ORPHA:51
HP:0011915	Cardiovascular calcification	5167	ENPP1	ORPHA:51608
HP:0011915	Cardiovascular calcification	368	ABCC6	ORPHA:51608
HP:0011915	Cardiovascular calcification	6772	STAT1	ORPHA:391487
HP:0011915	Cardiovascular calcification	10043	TOM1	ORPHA:391487
HP:0011915	Cardiovascular calcification	2200	FBN1	OMIM:154700
HP:0011915	Cardiovascular calcification	567	B2M	ORPHA:314652
HP:0011915	Cardiovascular calcification	4907	NT5E	OMIM:211800
HP:0011916	Toe extensor amyotrophy	4000	LMNA	ORPHA:98856
HP:0011916	Toe extensor amyotrophy	4625	MYH7	ORPHA:59135
HP:0011916	Toe extensor amyotrophy	4625	MYH7	OMIM:160500
HP:0011917	Short 5th toe	2033	EP300	OMIM:613684
HP:0011917	Short 5th toe	6926	TBX3	OMIM:181450
HP:0011917	Short 5th toe	1327	COX4I1	OMIM:619060
HP:0011917	Short 5th toe	3516	RBPJ	OMIM:614814
HP:0011917	Short 5th toe	1859	DYRK1A	ORPHA:268261
HP:0011918	Clinodactyly of the 4th toe	9241	NOG	OMIM:186500
HP:0011918	Clinodactyly of the 4th toe	25782	RAB3GAP2	OMIM:614225
HP:0011918	Clinodactyly of the 4th toe	118924	FRA10AC1	OMIM:620113
HP:0011918	Clinodactyly of the 4th toe	84342	COG8	OMIM:611182
HP:0011918	Clinodactyly of the 4th toe	341208	HEPHL1	OMIM:261990
HP:0001700	Myocardial necrosis	3920	LAMP2	OMIM:300257
HP:0001700	Myocardial necrosis	51119	SBDS	OMIM:260400
HP:0001700	Myocardial necrosis	134218	DNAJC21	OMIM:260400
HP:0001700	Myocardial necrosis	6729	SRP54	OMIM:260400
HP:0001701	Pericarditis	26191	PTPN22	ORPHA:397
HP:0001701	Pericarditis	26191	PTPN22	ORPHA:900
HP:0001701	Pericarditis	26191	PTPN22	OMIM:152700
HP:0001701	Pericarditis	3106	HLA-B	ORPHA:397
HP:0001701	Pericarditis	3106	HLA-B	ORPHA:29207
HP:0001701	Pericarditis	3106	HLA-B	ORPHA:117
HP:0001701	Pericarditis	3123	HLA-DRB1	ORPHA:397
HP:0001701	Pericarditis	3123	HLA-DRB1	ORPHA:85414
HP:0001701	Pericarditis	8974	P4HA2	ORPHA:397
HP:0001701	Pericarditis	144811	LACC1	ORPHA:85414
HP:0001701	Pericarditis	4282	MIF	ORPHA:85414
HP:0001701	Pericarditis	3569	IL6	ORPHA:85414
HP:0001701	Pericarditis	3932	LCK	OMIM:615758
HP:0001701	Pericarditis	1493	CTLA4	ORPHA:900
HP:0001701	Pericarditis	1493	CTLA4	OMIM:152700
HP:0001701	Pericarditis	3115	HLA-DPB1	ORPHA:900
HP:0001701	Pericarditis	5657	PRTN3	ORPHA:900
HP:0001701	Pericarditis	3113	HLA-DPA1	ORPHA:900
HP:0001701	Pericarditis	4210	MEFV	ORPHA:342
HP:0001701	Pericarditis	4210	MEFV	OMIM:249100
HP:0001701	Pericarditis	4210	MEFV	ORPHA:117
HP:0001701	Pericarditis	4094	MAF	ORPHA:1272
HP:0001701	Pericarditis	4094	MAF	OMIM:601088
HP:0001701	Pericarditis	100147744	RNU7-1	OMIM:619487
HP:0001701	Pericarditis	3662	IRF4	ORPHA:3452
HP:0001701	Pericarditis	7132	TNFRSF1A	ORPHA:32960
HP:0001701	Pericarditis	5373	PMM2	ORPHA:79318
HP:0001701	Pericarditis	5373	PMM2	OMIM:212065
HP:0001701	Pericarditis	64127	NOD2	ORPHA:90340
HP:0001701	Pericarditis	64127	NOD2	OMIM:186580
HP:0001701	Pericarditis	64127	NOD2	OMIM:617321
HP:0001701	Pericarditis	2212	FCGR2A	OMIM:152700
HP:0001701	Pericarditis	2213	FCGR2B	OMIM:152700
HP:0001701	Pericarditis	11277	TREX1	OMIM:152700
HP:0001701	Pericarditis	1773	DNASE1	OMIM:152700
HP:0001701	Pericarditis	3039	HBA1	ORPHA:163596
HP:0001701	Pericarditis	3040	HBA2	ORPHA:163596
HP:0001701	Pericarditis	149233	IL23R	ORPHA:117
HP:0001701	Pericarditis	6775	STAT4	ORPHA:117
HP:0001701	Pericarditis	3586	IL10	ORPHA:117
HP:0001701	Pericarditis	1230	CCR1	ORPHA:117
HP:0001701	Pericarditis	355	FAS	ORPHA:117
HP:0001701	Pericarditis	3592	IL12A	ORPHA:117
HP:0001701	Pericarditis	101928376	IL12A-AS1	ORPHA:117
HP:0001701	Pericarditis	7099	TLR4	ORPHA:117
HP:0001701	Pericarditis	3459	IFNGR1	ORPHA:117
HP:0001701	Pericarditis	720	C4A	ORPHA:117
HP:0001701	Pericarditis	337867	UBAC2	ORPHA:117
HP:0001701	Pericarditis	51752	ERAP1	ORPHA:117
HP:0001701	Pericarditis	8302	KLRC4	ORPHA:117
HP:0001701	Pericarditis	10216	PRG4	OMIM:208250
HP:0001704	Tricuspid valve prolapse	5337	PLD1	OMIM:212093
HP:0001704	Tricuspid valve prolapse	1277	COL1A1	ORPHA:287
HP:0001704	Tricuspid valve prolapse	1289	COL5A1	ORPHA:287
HP:0001704	Tricuspid valve prolapse	1290	COL5A2	ORPHA:287
HP:0001704	Tricuspid valve prolapse	7703	PCGF2	OMIM:618371
HP:0001704	Tricuspid valve prolapse	113189	CHST14	OMIM:601776
HP:0001704	Tricuspid valve prolapse	2200	FBN1	OMIM:154700
HP:0001704	Tricuspid valve prolapse	2200	FBN1	ORPHA:284979
HP:0001704	Tricuspid valve prolapse	2316	FLNA	OMIM:309350
HP:0001704	Tricuspid valve prolapse	2260	FGFR1	ORPHA:2396
HP:0001704	Tricuspid valve prolapse	3845	KRAS	ORPHA:2396
HP:0001704	Tricuspid valve prolapse	3845	KRAS	OMIM:609942
HP:0001704	Tricuspid valve prolapse	54539	NDUFB11	ORPHA:2556
HP:0001704	Tricuspid valve prolapse	1349	COX7B	ORPHA:2556
HP:0001704	Tricuspid valve prolapse	3052	HCCS	ORPHA:2556
HP:0001705	Right ventricular outlet tract obstruction	4920	ROR2	OMIM:268310
HP:0001705	Right ventricular outlet tract obstruction	7474	WNT5A	OMIM:180700
HP:0001705	Right ventricular outlet tract obstruction	1855	DVL1	OMIM:180700
HP:0001706	Endocardial fibroelastosis	6901	TAFAZZIN	ORPHA:111
HP:0001706	Endocardial fibroelastosis	6901	TAFAZZIN	OMIM:302060
HP:0001706	Endocardial fibroelastosis	2702	GJA5	OMIM:108770
HP:0001706	Endocardial fibroelastosis	57538	ALPK3	OMIM:618052
HP:0001706	Endocardial fibroelastosis	55388	MCM10	OMIM:619313
HP:0001706	Endocardial fibroelastosis	88	ACTN2	OMIM:612158
HP:0001706	Endocardial fibroelastosis	3425	IDUA	OMIM:607014
HP:0001706	Endocardial fibroelastosis	3425	IDUA	ORPHA:93473
HP:0001706	Endocardial fibroelastosis	8048	CSRP3	OMIM:607482
HP:0001706	Endocardial fibroelastosis	6584	SLC22A5	OMIM:212140
HP:0001707	Abnormal right ventricle morphology	6720	SREBF1	OMIM:158310
HP:0001707	Abnormal right ventricle morphology	2212	FCGR2A	OMIM:219700
HP:0001707	Abnormal right ventricle morphology	7040	TGFB1	OMIM:219700
HP:0001707	Abnormal right ventricle morphology	1080	CFTR	OMIM:219700
HP:0001707	Abnormal right ventricle morphology	2316	FLNA	OMIM:305620
HP:0001707	Abnormal right ventricle morphology	695	BTK	OMIM:300755
HP:0001707	Abnormal right ventricle morphology	57190	SELENON	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	58	ACTA1	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	4633	MYL2	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	3679	ITGA7	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	7169	TPM2	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	9200	HACD1	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	7170	TPM3	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	51776	MAP3K20	ORPHA:2020
HP:0001707	Abnormal right ventricle morphology	4625	MYH7	ORPHA:324604
HP:0001707	Abnormal right ventricle morphology	7273	TTN	ORPHA:324604
HP:0001707	Abnormal right ventricle morphology	2294	FOXF1	OMIM:265380
HP:0001707	Abnormal right ventricle morphology	4841	NONO	ORPHA:466791
HP:0001707	Abnormal right ventricle morphology	4841	NONO	OMIM:300967
HP:0001707	Abnormal right ventricle morphology	137814	NKX2-6	ORPHA:3384
HP:0001707	Abnormal right ventricle morphology	23129	PLXND1	ORPHA:3384
HP:0001707	Abnormal right ventricle morphology	10617	STAMBP	OMIM:614261
HP:0001707	Abnormal right ventricle morphology	79572	ATP13A3	OMIM:265400
HP:0001707	Abnormal right ventricle morphology	8425	LTBP4	OMIM:613177
HP:0001707	Abnormal right ventricle morphology	4851	NOTCH1	OMIM:616028
HP:0001707	Abnormal right ventricle morphology	6439	SFTPB	ORPHA:217563
HP:0001707	Abnormal right ventricle morphology	8085	KMT2D	OMIM:620186
HP:0001707	Abnormal right ventricle morphology	8604	SLC25A12	OMIM:612949
HP:0001707	Abnormal right ventricle morphology	8291	DYSF	ORPHA:268
HP:0001707	Abnormal right ventricle morphology	57538	ALPK3	OMIM:618052
HP:0001707	Abnormal right ventricle morphology	27031	NPHP3	OMIM:267010
HP:0001707	Abnormal right ventricle morphology	23556	PIGN	ORPHA:280633
HP:0001707	Abnormal right ventricle morphology	26276	VPS33B	OMIM:208085
HP:0001707	Abnormal right ventricle morphology	659	BMPR2	OMIM:178600
HP:0001707	Abnormal right ventricle morphology	8292	COLQ	ORPHA:98915
HP:0001707	Abnormal right ventricle morphology	3913	LAMB2	ORPHA:98915
HP:0001707	Abnormal right ventricle morphology	63894	VIPAS39	OMIM:613404
HP:0001707	Abnormal right ventricle morphology	2719	GPC3	OMIM:312870
HP:0001707	Abnormal right ventricle morphology	2239	GPC4	OMIM:312870
HP:0001707	Abnormal right ventricle morphology	84705	GTPBP3	ORPHA:444013
HP:0001707	Abnormal right ventricle morphology	9158	FIBP	ORPHA:500095
HP:0001707	Abnormal right ventricle morphology	5337	PLD1	OMIM:212093
HP:0001707	Abnormal right ventricle morphology	2627	GATA6	ORPHA:2255
HP:0001707	Abnormal right ventricle morphology	118856	MMP21	OMIM:616749
HP:0001707	Abnormal right ventricle morphology	79796	ALG9	ORPHA:79328
HP:0001707	Abnormal right ventricle morphology	7092	TLL1	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	7092	TLL1	ORPHA:99106
HP:0001707	Abnormal right ventricle morphology	57057	TBX20	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	4624	MYH6	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	1482	NKX2-5	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	70	ACTC1	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	10370	CITED2	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	10370	CITED2	ORPHA:99105
HP:0001707	Abnormal right ventricle morphology	2626	GATA4	ORPHA:99103
HP:0001707	Abnormal right ventricle morphology	60684	TRAPPC11	ORPHA:369840
HP:0001707	Abnormal right ventricle morphology	60684	TRAPPC11	ORPHA:369847
HP:0001707	Abnormal right ventricle morphology	6331	SCN5A	OMIM:614022
HP:0001707	Abnormal right ventricle morphology	10526	IPO8	OMIM:619472
HP:0001707	Abnormal right ventricle morphology	96459	FNIP1	OMIM:619705
HP:0001707	Abnormal right ventricle morphology	1000	CDH2	OMIM:618920
HP:0001707	Abnormal right ventricle morphology	6445	SGCG	OMIM:253700
HP:0001707	Abnormal right ventricle morphology	29119	CTNNA3	OMIM:615616
HP:0001707	Abnormal right ventricle morphology	79188	TMEM43	OMIM:604400
HP:0001707	Abnormal right ventricle morphology	3728	JUP	OMIM:601214
HP:0001707	Abnormal right ventricle morphology	3728	JUP	OMIM:611528
HP:0001707	Abnormal right ventricle morphology	1829	DSG2	OMIM:610193
HP:0001707	Abnormal right ventricle morphology	1824	DSC2	OMIM:610476
HP:0001707	Abnormal right ventricle morphology	7043	TGFB3	OMIM:107970
HP:0001707	Abnormal right ventricle morphology	1832	DSP	OMIM:607450
HP:0001707	Abnormal right ventricle morphology	5318	PKP2	OMIM:609040
HP:0001708	Right ventricular failure	7092	TLL1	ORPHA:99103
HP:0001708	Right ventricular failure	57057	TBX20	ORPHA:99103
HP:0001708	Right ventricular failure	4624	MYH6	ORPHA:99103
HP:0001708	Right ventricular failure	1482	NKX2-5	ORPHA:99103
HP:0001708	Right ventricular failure	70	ACTC1	ORPHA:99103
HP:0001708	Right ventricular failure	10370	CITED2	ORPHA:99103
HP:0001708	Right ventricular failure	2626	GATA4	ORPHA:99103
HP:0001708	Right ventricular failure	2627	GATA6	ORPHA:99103
HP:0001708	Right ventricular failure	57190	SELENON	ORPHA:324604
HP:0001708	Right ventricular failure	4625	MYH7	ORPHA:324604
HP:0001708	Right ventricular failure	7273	TTN	ORPHA:324604
HP:0001708	Right ventricular failure	79572	ATP13A3	OMIM:265400
HP:0001708	Right ventricular failure	1616	DAXX	ORPHA:100075
HP:0001708	Right ventricular failure	546	ATRX	ORPHA:100075
HP:0001708	Right ventricular failure	440275	EIF2AK4	ORPHA:199241
HP:0001708	Right ventricular failure	10568	SLC34A2	ORPHA:60025
HP:0001708	Right ventricular failure	659	BMPR2	OMIM:178600
HP:0001708	Right ventricular failure	6392	SDHD	ORPHA:100093
HP:0001709	Third degree atrioventricular block	2902	GRIN1	OMIM:619814
HP:0001709	Third degree atrioventricular block	5593	PRKG2	OMIM:619636
HP:0001709	Third degree atrioventricular block	4635	MYL4	OMIM:617280
HP:0001709	Third degree atrioventricular block	4509	MT-ATP8	ORPHA:480
HP:0001709	Third degree atrioventricular block	4567	MT-TL1	ORPHA:480
HP:0001709	Third degree atrioventricular block	50484	RRM2B	ORPHA:480
HP:0001709	Third degree atrioventricular block	5781	PTPN11	OMIM:151100
HP:0001709	Third degree atrioventricular block	1674	DES	OMIM:601419
HP:0001709	Third degree atrioventricular block	4000	LMNA	OMIM:115200
HP:0001709	Third degree atrioventricular block	50619	DEF6	OMIM:619573
HP:0001709	Third degree atrioventricular block	6331	SCN5A	OMIM:113900
HP:0011922	Abnormal activity of mitochondrial respiratory chain	200205	IBA57	ORPHA:468661
HP:0011922	Abnormal activity of mitochondrial respiratory chain	200205	IBA57	OMIM:615330
HP:0011922	Abnormal activity of mitochondrial respiratory chain	112812	FDX2	OMIM:251900
HP:0011922	Abnormal activity of mitochondrial respiratory chain	6390	SDHB	OMIM:619224
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51102	MECR	ORPHA:508093
HP:0011922	Abnormal activity of mitochondrial respiratory chain	6392	SDHD	OMIM:619167
HP:0011922	Abnormal activity of mitochondrial respiratory chain	64116	SLC39A8	ORPHA:468699
HP:0011922	Abnormal activity of mitochondrial respiratory chain	10128	LRPPRC	OMIM:220111
HP:0011922	Abnormal activity of mitochondrial respiratory chain	10128	LRPPRC	ORPHA:70472
HP:0011922	Abnormal activity of mitochondrial respiratory chain	9997	SCO2	OMIM:604377
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51241	COX16	OMIM:619355
HP:0011922	Abnormal activity of mitochondrial respiratory chain	80308	FLAD1	OMIM:255100
HP:0011922	Abnormal activity of mitochondrial respiratory chain	57176	VARS2	OMIM:615917
HP:0011922	Abnormal activity of mitochondrial respiratory chain	92667	MGME1	OMIM:615084
HP:0011922	Abnormal activity of mitochondrial respiratory chain	6182	MRPL12	OMIM:618951
HP:0011922	Abnormal activity of mitochondrial respiratory chain	5428	POLG	OMIM:613662
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51649	MRPS23	OMIM:618952
HP:0011922	Abnormal activity of mitochondrial respiratory chain	28958	COA3	OMIM:619058
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54802	TRIT1	OMIM:617873
HP:0011922	Abnormal activity of mitochondrial respiratory chain	116228	COX20	OMIM:619054
HP:0011922	Abnormal activity of mitochondrial respiratory chain	388753	COA6	OMIM:616501
HP:0011922	Abnormal activity of mitochondrial respiratory chain	493753	COA5	OMIM:616500
HP:0011922	Abnormal activity of mitochondrial respiratory chain	29960	MRM2	OMIM:618567
HP:0011922	Abnormal activity of mitochondrial respiratory chain	84334	COA8	OMIM:619061
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1339	COX6A2	OMIM:619062
HP:0011922	Abnormal activity of mitochondrial respiratory chain	100303755	PET117	OMIM:619063
HP:0011922	Abnormal activity of mitochondrial respiratory chain	80324	PUS1	OMIM:600462
HP:0011922	Abnormal activity of mitochondrial respiratory chain	9377	COX5A	OMIM:619064
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1327	COX4I1	OMIM:619060
HP:0011922	Abnormal activity of mitochondrial respiratory chain	64432	MRPS25	OMIM:619025
HP:0011922	Abnormal activity of mitochondrial respiratory chain	57505	AARS2	OMIM:614096
HP:0011922	Abnormal activity of mitochondrial respiratory chain	115286	SLC25A26	OMIM:616794
HP:0011922	Abnormal activity of mitochondrial respiratory chain	50484	RRM2B	OMIM:612075
HP:0011922	Abnormal activity of mitochondrial respiratory chain	84705	GTPBP3	OMIM:616198
HP:0011922	Abnormal activity of mitochondrial respiratory chain	84705	GTPBP3	ORPHA:444013
HP:0011922	Abnormal activity of mitochondrial respiratory chain	9131	AIFM1	OMIM:300816
HP:0011922	Abnormal activity of mitochondrial respiratory chain	79731	NARS2	OMIM:616239
HP:0011922	Abnormal activity of mitochondrial respiratory chain	6389	SDHA	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	80704	SLC19A3	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	91942	NDUFAF2	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	6834	SURF1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4723	NDUFV1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55572	FOXRED1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4729	NDUFV2	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55967	NDUFA12	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51204	TACO1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4720	NDUFS2	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4728	NDUFS8	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	137682	NDUFAF6	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4722	NDUFS3	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	79133	NDUFAF5	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	5160	PDHA1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	100131801	PET100	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1355	COX15	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1892	ECHS1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	123263	MTFMT	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51079	NDUFA13	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	374291	NDUFS7	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4705	NDUFA10	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51601	LIPT1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4719	NDUFS1	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4695	NDUFA2	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4697	NDUFA4	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4704	NDUFA9	ORPHA:255241
HP:0011922	Abnormal activity of mitochondrial respiratory chain	27247	NFU1	OMIM:605711
HP:0011922	Abnormal activity of mitochondrial respiratory chain	3735	KARS1	OMIM:619147
HP:0011922	Abnormal activity of mitochondrial respiratory chain	8803	SUCLA2	OMIM:612073
HP:0011922	Abnormal activity of mitochondrial respiratory chain	2671	GFER	OMIM:613076
HP:0011922	Abnormal activity of mitochondrial respiratory chain	10939	AFG3L2	OMIM:610246
HP:0011922	Abnormal activity of mitochondrial respiratory chain	9200	HACD1	OMIM:619967
HP:0011922	Abnormal activity of mitochondrial respiratory chain	128240	NAXE	OMIM:617186
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1020	CDK5	OMIM:616342
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4702	NDUFA8	OMIM:619272
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54539	NDUFB11	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54539	NDUFB11	OMIM:301021
HP:0011922	Abnormal activity of mitochondrial respiratory chain	25915	NDUFAF3	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	25915	NDUFAF3	OMIM:618240
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51103	NDUFAF1	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51103	NDUFAF1	OMIM:618234
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51300	TIMMDC1	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51300	TIMMDC1	OMIM:618251
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4716	NDUFB10	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4716	NDUFB10	OMIM:619003
HP:0011922	Abnormal activity of mitochondrial respiratory chain	284184	NDUFAF8	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	284184	NDUFAF8	OMIM:618776
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55863	TMEM126B	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55863	TMEM126B	OMIM:618250
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4535	MT-ND1	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4537	MT-ND3	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4694	NDUFA1	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4694	NDUFA1	OMIM:301020
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4726	NDUFS6	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4726	NDUFS6	OMIM:618232
HP:0011922	Abnormal activity of mitochondrial respiratory chain	126328	NDUFA11	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	126328	NDUFA11	OMIM:618236
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4709	NDUFB3	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4709	NDUFB3	OMIM:618246
HP:0011922	Abnormal activity of mitochondrial respiratory chain	80224	NUBPL	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	80224	NUBPL	OMIM:618242
HP:0011922	Abnormal activity of mitochondrial respiratory chain	29078	NDUFAF4	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	29078	NDUFAF4	OMIM:618237
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4700	NDUFA6	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4700	NDUFA6	OMIM:618253
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4536	MT-ND2	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4715	NDUFB9	ORPHA:2609
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4715	NDUFB9	OMIM:618245
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4718	NDUFC2	OMIM:619170
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55037	PTCD3	OMIM:619057
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4556	MT-TE	ORPHA:254864
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55687	TRMU	ORPHA:254864
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4714	NDUFB8	OMIM:618252
HP:0011922	Abnormal activity of mitochondrial respiratory chain	28976	ACAD9	ORPHA:99901
HP:0011922	Abnormal activity of mitochondrial respiratory chain	28976	ACAD9	OMIM:611126
HP:0011922	Abnormal activity of mitochondrial respiratory chain	122961	ISCA2	OMIM:616370
HP:0011922	Abnormal activity of mitochondrial respiratory chain	60528	ELAC2	OMIM:615440
HP:0011922	Abnormal activity of mitochondrial respiratory chain	119559	SFXN4	OMIM:615578
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1468	SLC25A10	OMIM:618972
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4713	NDUFB7	OMIM:620135
HP:0011922	Abnormal activity of mitochondrial respiratory chain	26235	FBXL4	OMIM:615471
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1537	CYC1	OMIM:615453
HP:0011922	Abnormal activity of mitochondrial respiratory chain	63899	NSUN3	OMIM:619012
HP:0011922	Abnormal activity of mitochondrial respiratory chain	498	ATP5F1A	OMIM:616045
HP:0011922	Abnormal activity of mitochondrial respiratory chain	27089	UQCRQ	OMIM:615159
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4724	NDUFS4	OMIM:252010
HP:0011922	Abnormal activity of mitochondrial respiratory chain	7084	TK2	OMIM:609560
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54902	TTC19	OMIM:615157
HP:0011922	Abnormal activity of mitochondrial respiratory chain	7381	UQCRB	OMIM:615158
HP:0011922	Abnormal activity of mitochondrial respiratory chain	4358	MPV17	OMIM:256810
HP:0011922	Abnormal activity of mitochondrial respiratory chain	400916	CHCHD10	OMIM:616209
HP:0011922	Abnormal activity of mitochondrial respiratory chain	85476	GFM1	OMIM:609060
HP:0011922	Abnormal activity of mitochondrial respiratory chain	25821	MTO1	OMIM:614702
HP:0011922	Abnormal activity of mitochondrial respiratory chain	708	C1QBP	OMIM:617713
HP:0011922	Abnormal activity of mitochondrial respiratory chain	90624	LYRM7	OMIM:615838
HP:0011922	Abnormal activity of mitochondrial respiratory chain	124454	EARS2	OMIM:614924
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54675	CRLS1	OMIM:620167
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55750	AGK	OMIM:212350
HP:0011922	Abnormal activity of mitochondrial respiratory chain	10102	TSFM	OMIM:610505
HP:0011922	Abnormal activity of mitochondrial respiratory chain	23479	ISCU	OMIM:255125
HP:0011922	Abnormal activity of mitochondrial respiratory chain	1716	DGUOK	OMIM:251880
HP:0011922	Abnormal activity of mitochondrial respiratory chain	56945	MRPS22	OMIM:611719
HP:0011922	Abnormal activity of mitochondrial respiratory chain	8802	SUCLG1	OMIM:245400
HP:0011922	Abnormal activity of mitochondrial respiratory chain	8802	SUCLG1	ORPHA:17
HP:0011922	Abnormal activity of mitochondrial respiratory chain	29928	TIMM22	OMIM:618851
HP:0011922	Abnormal activity of mitochondrial respiratory chain	63931	MRPS14	OMIM:618378
HP:0011922	Abnormal activity of mitochondrial respiratory chain	79587	CARS2	ORPHA:477774
HP:0011922	Abnormal activity of mitochondrial respiratory chain	79587	CARS2	OMIM:616672
HP:0011922	Abnormal activity of mitochondrial respiratory chain	291	SLC25A4	OMIM:617184
HP:0011922	Abnormal activity of mitochondrial respiratory chain	25828	TXN2	ORPHA:478029
HP:0011922	Abnormal activity of mitochondrial respiratory chain	25828	TXN2	OMIM:616811
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51067	YARS2	OMIM:613561
HP:0011922	Abnormal activity of mitochondrial respiratory chain	9054	NFS1	OMIM:619386
HP:0011922	Abnormal activity of mitochondrial respiratory chain	790955	UQCC3	OMIM:616111
HP:0011922	Abnormal activity of mitochondrial respiratory chain	125170	MIEF2	OMIM:619024
HP:0011922	Abnormal activity of mitochondrial respiratory chain	84340	GFM2	OMIM:618397
HP:0011922	Abnormal activity of mitochondrial respiratory chain	55278	QRSL1	OMIM:618835
HP:0011922	Abnormal activity of mitochondrial respiratory chain	388962	BOLA3	OMIM:614299
HP:0011922	Abnormal activity of mitochondrial respiratory chain	57570	TRMT5	OMIM:616539
HP:0011922	Abnormal activity of mitochondrial respiratory chain	84300	UQCC2	OMIM:615824
HP:0011922	Abnormal activity of mitochondrial respiratory chain	51021	MRPS16	OMIM:610498
HP:0011922	Abnormal activity of mitochondrial respiratory chain	57038	RARS2	OMIM:611523
HP:0011922	Abnormal activity of mitochondrial respiratory chain	7388	UQCRH	OMIM:620137
HP:0011922	Abnormal activity of mitochondrial respiratory chain	283459	GATC	OMIM:618839
HP:0011922	Abnormal activity of mitochondrial respiratory chain	617	BCS1L	OMIM:124000
HP:0011922	Abnormal activity of mitochondrial respiratory chain	54968	TMEM70	OMIM:614052
HP:0011922	Abnormal activity of mitochondrial respiratory chain	92609	TIMM50	ORPHA:505216
HP:0011922	Abnormal activity of mitochondrial respiratory chain	91574	MTRFR	OMIM:613559
HP:0011922	Abnormal activity of mitochondrial respiratory chain	513	ATP5F1D	OMIM:618120
HP:0011922	Abnormal activity of mitochondrial respiratory chain	514	ATP5F1E	OMIM:614053
HP:0011922	Abnormal activity of mitochondrial respiratory chain	91647	ATPAF2	OMIM:604273
HP:0011924	Decreased activity of mitochondrial complex III	26235	FBXL4	OMIM:615471
HP:0011924	Decreased activity of mitochondrial complex III	1537	CYC1	OMIM:615453
HP:0011924	Decreased activity of mitochondrial complex III	63899	NSUN3	OMIM:619012
HP:0011924	Decreased activity of mitochondrial complex III	498	ATP5F1A	OMIM:616045
HP:0011924	Decreased activity of mitochondrial complex III	27089	UQCRQ	OMIM:615159
HP:0011924	Decreased activity of mitochondrial complex III	4724	NDUFS4	OMIM:252010
HP:0011924	Decreased activity of mitochondrial complex III	7084	TK2	OMIM:609560
HP:0011924	Decreased activity of mitochondrial complex III	54902	TTC19	OMIM:615157
HP:0011924	Decreased activity of mitochondrial complex III	7381	UQCRB	OMIM:615158
HP:0011924	Decreased activity of mitochondrial complex III	4358	MPV17	OMIM:256810
HP:0011924	Decreased activity of mitochondrial complex III	400916	CHCHD10	OMIM:616209
HP:0011924	Decreased activity of mitochondrial complex III	85476	GFM1	OMIM:609060
HP:0011924	Decreased activity of mitochondrial complex III	25821	MTO1	OMIM:614702
HP:0011924	Decreased activity of mitochondrial complex III	708	C1QBP	OMIM:617713
HP:0011924	Decreased activity of mitochondrial complex III	90624	LYRM7	OMIM:615838
HP:0011924	Decreased activity of mitochondrial complex III	124454	EARS2	OMIM:614924
HP:0011924	Decreased activity of mitochondrial complex III	54675	CRLS1	OMIM:620167
HP:0011924	Decreased activity of mitochondrial complex III	55750	AGK	OMIM:212350
HP:0011924	Decreased activity of mitochondrial complex III	10102	TSFM	OMIM:610505
HP:0011924	Decreased activity of mitochondrial complex III	23479	ISCU	OMIM:255125
HP:0011924	Decreased activity of mitochondrial complex III	1716	DGUOK	OMIM:251880
HP:0011924	Decreased activity of mitochondrial complex III	56945	MRPS22	OMIM:611719
HP:0011924	Decreased activity of mitochondrial complex III	8802	SUCLG1	OMIM:245400
HP:0011924	Decreased activity of mitochondrial complex III	8802	SUCLG1	ORPHA:17
HP:0011924	Decreased activity of mitochondrial complex III	29928	TIMM22	OMIM:618851
HP:0011924	Decreased activity of mitochondrial complex III	63931	MRPS14	OMIM:618378
HP:0011924	Decreased activity of mitochondrial complex III	79587	CARS2	ORPHA:477774
HP:0011924	Decreased activity of mitochondrial complex III	79587	CARS2	OMIM:616672
HP:0011924	Decreased activity of mitochondrial complex III	291	SLC25A4	OMIM:617184
HP:0011924	Decreased activity of mitochondrial complex III	25828	TXN2	ORPHA:478029
HP:0011924	Decreased activity of mitochondrial complex III	25828	TXN2	OMIM:616811
HP:0011924	Decreased activity of mitochondrial complex III	51067	YARS2	OMIM:613561
HP:0011924	Decreased activity of mitochondrial complex III	9054	NFS1	OMIM:619386
HP:0011924	Decreased activity of mitochondrial complex III	790955	UQCC3	OMIM:616111
HP:0011924	Decreased activity of mitochondrial complex III	125170	MIEF2	OMIM:619024
HP:0011924	Decreased activity of mitochondrial complex III	84340	GFM2	OMIM:618397
HP:0011924	Decreased activity of mitochondrial complex III	55278	QRSL1	OMIM:618835
HP:0011924	Decreased activity of mitochondrial complex III	388962	BOLA3	OMIM:614299
HP:0011924	Decreased activity of mitochondrial complex III	57570	TRMT5	OMIM:616539
HP:0011924	Decreased activity of mitochondrial complex III	84300	UQCC2	OMIM:615824
HP:0011924	Decreased activity of mitochondrial complex III	51021	MRPS16	OMIM:610498
HP:0011924	Decreased activity of mitochondrial complex III	57038	RARS2	OMIM:611523
HP:0011924	Decreased activity of mitochondrial complex III	7388	UQCRH	OMIM:620137
HP:0011924	Decreased activity of mitochondrial complex III	283459	GATC	OMIM:618839
HP:0011924	Decreased activity of mitochondrial complex III	617	BCS1L	OMIM:124000
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	56945	MRPS22	OMIM:611719
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	7084	TK2	OMIM:609560
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	85476	GFM1	OMIM:609060
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	51021	MRPS16	OMIM:610498
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	498	ATP5F1A	OMIM:615228
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	54968	TMEM70	OMIM:614052
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	92609	TIMM50	ORPHA:505216
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	91574	MTRFR	OMIM:613559
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	63931	MRPS14	OMIM:618378
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	513	ATP5F1D	OMIM:618120
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	514	ATP5F1E	OMIM:614053
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	91647	ATPAF2	OMIM:604273
HP:0011927	Short digit	3265	HRAS	ORPHA:79414
HP:0011927	Short digit	2137	EXTL3	ORPHA:508533
HP:0011927	Short digit	2137	EXTL3	OMIM:617425
HP:0011927	Short digit	10617	STAMBP	OMIM:614261
HP:0011927	Short digit	28981	IFT81	OMIM:617895
HP:0011927	Short digit	4750	NEK1	OMIM:263520
HP:0011927	Short digit	392255	GDF6	OMIM:617898
HP:0011927	Short digit	1947	EFNB1	ORPHA:1520
HP:0011927	Short digit	1947	EFNB1	OMIM:304110
HP:0011927	Short digit	5238	PGM3	ORPHA:443811
HP:0011927	Short digit	55733	HHAT	OMIM:600092
HP:0011927	Short digit	4047	LSS	ORPHA:2850
HP:0011927	Short digit	197	AHSG	ORPHA:2850
HP:0011927	Short digit	3694	ITGB6	ORPHA:2850
HP:0011927	Short digit	91147	TMEM67	OMIM:602152
HP:0011927	Short digit	114803	MYSM1	ORPHA:508542
HP:0011927	Short digit	149775	GNAS-AS1	OMIM:603233
HP:0011927	Short digit	8675	STX16	OMIM:603233
HP:0011927	Short digit	1855	DVL1	OMIM:616331
HP:0011927	Short digit	1855	DVL1	OMIM:180700
HP:0011927	Short digit	1855	DVL1	ORPHA:3107
HP:0011927	Short digit	55790	CSGALNACT1	OMIM:618870
HP:0011927	Short digit	10026	PIGK	OMIM:618879
HP:0011927	Short digit	28960	DCPS	OMIM:616459
HP:0011927	Short digit	23384	SPECC1L	ORPHA:1519
HP:0011927	Short digit	57539	WDR35	ORPHA:1515
HP:0011927	Short digit	57539	WDR35	OMIM:614091
HP:0011927	Short digit	57539	WDR35	OMIM:613610
HP:0011927	Short digit	112752	IFT43	ORPHA:1515
HP:0011927	Short digit	112752	IFT43	OMIM:614099
HP:0011927	Short digit	112752	IFT43	OMIM:617866
HP:0011927	Short digit	51098	IFT52	ORPHA:1515
HP:0011927	Short digit	51098	IFT52	OMIM:617102
HP:0011927	Short digit	55764	IFT122	ORPHA:1515
HP:0011927	Short digit	55764	IFT122	OMIM:218330
HP:0011927	Short digit	57728	WDR19	ORPHA:1515
HP:0011927	Short digit	57728	WDR19	ORPHA:474
HP:0011927	Short digit	57728	WDR19	OMIM:614376
HP:0011927	Short digit	9723	SEMA3E	ORPHA:138
HP:0011927	Short digit	57231	SNX14	ORPHA:397709
HP:0011927	Short digit	57231	SNX14	OMIM:616354
HP:0011927	Short digit	818	CAMK2G	OMIM:618522
HP:0011927	Short digit	54453	RIN2	OMIM:613075
HP:0011927	Short digit	54453	RIN2	ORPHA:217335
HP:0011927	Short digit	170691	ADAMTS17	OMIM:613195
HP:0011927	Short digit	9469	CHST3	OMIM:143095
HP:0011927	Short digit	9469	CHST3	ORPHA:263463
HP:0011927	Short digit	54567	DLL4	OMIM:616589
HP:0011927	Short digit	54567	DLL4	ORPHA:974
HP:0011927	Short digit	64359	NXN	OMIM:618529
HP:0011927	Short digit	64359	NXN	ORPHA:1507
HP:0011927	Short digit	7994	KAT6A	ORPHA:457193
HP:0011927	Short digit	7994	KAT6A	OMIM:616268
HP:0011927	Short digit	84100	ARL6	OMIM:209900
HP:0011927	Short digit	84100	ARL6	OMIM:600151
HP:0011927	Short digit	79140	CCDC28B	OMIM:209900
HP:0011927	Short digit	582	BBS1	OMIM:209900
HP:0011927	Short digit	2697	GJA1	ORPHA:2710
HP:0011927	Short digit	2697	GJA1	ORPHA:317
HP:0011927	Short digit	8036	SHOC2	ORPHA:2701
HP:0011927	Short digit	5500	PPP1CB	ORPHA:2701
HP:0011927	Short digit	7291	TWIST1	OMIM:101400
HP:0011927	Short digit	7291	TWIST1	ORPHA:794
HP:0011927	Short digit	7291	TWIST1	ORPHA:35099
HP:0011927	Short digit	63901	FAM111A	OMIM:602361
HP:0011927	Short digit	9935	MAFB	ORPHA:233
HP:0011927	Short digit	1123	CHN1	ORPHA:233
HP:0011927	Short digit	55112	DYNC2I1	ORPHA:474
HP:0011927	Short digit	55112	DYNC2I1	OMIM:615503
HP:0011927	Short digit	26160	IFT172	ORPHA:474
HP:0011927	Short digit	26160	IFT172	OMIM:615630
HP:0011927	Short digit	153241	CEP120	ORPHA:474
HP:0011927	Short digit	57560	IFT80	ORPHA:474
HP:0011927	Short digit	57560	IFT80	OMIM:611263
HP:0011927	Short digit	51626	DYNC2LI1	ORPHA:474
HP:0011927	Short digit	51626	DYNC2LI1	OMIM:617088
HP:0011927	Short digit	89891	DYNC2I2	ORPHA:474
HP:0011927	Short digit	89891	DYNC2I2	OMIM:615633
HP:0011927	Short digit	79809	TTC21B	ORPHA:474
HP:0011927	Short digit	79809	TTC21B	OMIM:613819
HP:0011927	Short digit	3981	LIG4	ORPHA:235
HP:0011927	Short digit	54888	NSUN2	ORPHA:235
HP:0011927	Short digit	8493	PPM1D	OMIM:617450
HP:0011927	Short digit	56006	SMG9	OMIM:619995
HP:0011927	Short digit	23126	POGZ	OMIM:616364
HP:0011927	Short digit	55699	IARS2	OMIM:616007
HP:0011927	Short digit	27125	AFF4	OMIM:616368
HP:0011927	Short digit	27125	AFF4	ORPHA:444077
HP:0011927	Short digit	2121	EVC	OMIM:193530
HP:0011927	Short digit	132884	EVC2	OMIM:193530
HP:0011927	Short digit	5590	PRKCZ	ORPHA:1606
HP:0011927	Short digit	2563	GABRD	ORPHA:1606
HP:0011927	Short digit	23013	SPEN	ORPHA:1606
HP:0011927	Short digit	23013	SPEN	OMIM:619312
HP:0011927	Short digit	8510	MMP23B	ORPHA:1606
HP:0011927	Short digit	7798	LUZP1	ORPHA:1606
HP:0011927	Short digit	6497	SKI	ORPHA:1606
HP:0011927	Short digit	10630	PDPN	ORPHA:1606
HP:0011927	Short digit	3339	HSPG2	ORPHA:1606
HP:0011927	Short digit	10277	UBE4B	ORPHA:1606
HP:0011927	Short digit	8514	KCNAB2	ORPHA:1606
HP:0011927	Short digit	473	RERE	ORPHA:1606
HP:0011927	Short digit	63976	PRDM16	ORPHA:1606
HP:0011927	Short digit	54897	CASZ1	ORPHA:1606
HP:0011927	Short digit	1311	COMP	OMIM:177170
HP:0011927	Short digit	1311	COMP	ORPHA:750
HP:0011927	Short digit	1311	COMP	ORPHA:93308
HP:0011927	Short digit	4247	MGAT2	ORPHA:79329
HP:0011927	Short digit	8314	BAP1	OMIM:619762
HP:0011927	Short digit	54928	BPNT2	OMIM:614078
HP:0011927	Short digit	7140	TNNT3	OMIM:618435
HP:0011927	Short digit	124583	CANT1	OMIM:251450
HP:0011927	Short digit	1301	COL11A1	ORPHA:440354
HP:0011927	Short digit	1301	COL11A1	ORPHA:2021
HP:0011927	Short digit	4488	MSX2	OMIM:604757
HP:0011927	Short digit	8643	PTCH2	ORPHA:377
HP:0011927	Short digit	51684	SUFU	ORPHA:377
HP:0011927	Short digit	6603	SMARCD2	OMIM:617475
HP:0011927	Short digit	4851	NOTCH1	OMIM:616028
HP:0011927	Short digit	4851	NOTCH1	ORPHA:974
HP:0011927	Short digit	23219	FBXO28	OMIM:619777
HP:0011927	Short digit	51322	WAC	ORPHA:466950
HP:0011927	Short digit	79053	ALG8	ORPHA:79325
HP:0011927	Short digit	257	ALX3	OMIM:136760
HP:0011927	Short digit	257	ALX3	ORPHA:391474
HP:0011927	Short digit	6473	SHOX	ORPHA:240
HP:0011927	Short digit	6595	SMARCA2	OMIM:601358
HP:0011927	Short digit	6595	SMARCA2	ORPHA:3051
HP:0011927	Short digit	2737	GLI3	ORPHA:672
HP:0011927	Short digit	23111	SPART	OMIM:275900
HP:0011927	Short digit	5575	PRKAR1B	OMIM:619680
HP:0011927	Short digit	51114	ZDHHC9	ORPHA:776
HP:0011927	Short digit	65109	UPF3B	ORPHA:776
HP:0011927	Short digit	9126	SMC3	OMIM:610759
HP:0011927	Short digit	79068	FTO	OMIM:612938
HP:0011927	Short digit	56975	FAM20C	OMIM:259775
HP:0011927	Short digit	55249	YY1AP1	OMIM:602531
HP:0011927	Short digit	5980	REV3L	ORPHA:570
HP:0011927	Short digit	23129	PLXND1	ORPHA:570
HP:0011927	Short digit	10940	POP1	OMIM:617396
HP:0011927	Short digit	51132	RLIM	OMIM:300978
HP:0011927	Short digit	4141	MARS1	OMIM:619692
HP:0011927	Short digit	1621	DBH	OMIM:223360
HP:0011927	Short digit	4052	LTBP1	OMIM:619451
HP:0011927	Short digit	54496	PRMT7	OMIM:617157
HP:0011927	Short digit	54496	PRMT7	ORPHA:464288
HP:0011927	Short digit	1009	CDH11	OMIM:211380
HP:0011927	Short digit	5077	PAX3	OMIM:148820
HP:0011927	Short digit	10483	SEC23B	ORPHA:201
HP:0011927	Short digit	5728	PTEN	ORPHA:201
HP:0011927	Short digit	6390	SDHB	ORPHA:201
HP:0011927	Short digit	6392	SDHD	ORPHA:201
HP:0011927	Short digit	6391	SDHC	ORPHA:201
HP:0011927	Short digit	207	AKT1	ORPHA:201
HP:0011927	Short digit	205717	USF3	ORPHA:201
HP:0011927	Short digit	5290	PIK3CA	ORPHA:201
HP:0011927	Short digit	100144748	KLLN	ORPHA:201
HP:0011927	Short digit	633	BGN	OMIM:300989
HP:0011927	Short digit	633	BGN	OMIM:300106
HP:0011927	Short digit	3977	LIFR	OMIM:601559
HP:0011927	Short digit	10297	APC2	OMIM:617169
HP:0011927	Short digit	5573	PRKAR1A	OMIM:101800
HP:0011927	Short digit	5573	PRKAR1A	ORPHA:950
HP:0011927	Short digit	5573	PRKAR1A	ORPHA:280651
HP:0011927	Short digit	51715	RAB23	ORPHA:65759
HP:0011927	Short digit	51715	RAB23	OMIM:201000
HP:0011927	Short digit	2707	GJB3	ORPHA:317
HP:0011927	Short digit	2531	KDSR	ORPHA:317
HP:0011927	Short digit	127534	GJB4	ORPHA:317
HP:0011927	Short digit	64374	SIL1	ORPHA:559
HP:0011927	Short digit	51763	INPP5K	ORPHA:559
HP:0011927	Short digit	50801	KCNK4	OMIM:618381
HP:0011927	Short digit	65250	CPLANE1	OMIM:277170
HP:0011927	Short digit	65250	CPLANE1	ORPHA:2754
HP:0011927	Short digit	9851	KIAA0753	OMIM:619479
HP:0011927	Short digit	9851	KIAA0753	ORPHA:2754
HP:0011927	Short digit	5977	DPF2	OMIM:618027
HP:0011927	Short digit	145173	B3GLCT	OMIM:261540
HP:0011927	Short digit	145173	B3GLCT	ORPHA:709
HP:0011927	Short digit	5530	PPP3CA	OMIM:618265
HP:0011927	Short digit	57514	ARHGAP31	OMIM:100300
HP:0011927	Short digit	57514	ARHGAP31	ORPHA:974
HP:0011927	Short digit	285590	SH3PXD2B	ORPHA:137834
HP:0011927	Short digit	10283	CWC27	OMIM:250410
HP:0011927	Short digit	10283	CWC27	ORPHA:166035
HP:0011927	Short digit	6513	SLC2A1	ORPHA:168577
HP:0011927	Short digit	9060	PAPSS2	OMIM:612847
HP:0011927	Short digit	4796	TONSL	OMIM:271510
HP:0011927	Short digit	4796	TONSL	ORPHA:93357
HP:0011927	Short digit	2131	EXT1	ORPHA:502
HP:0011927	Short digit	2887	GRB10	ORPHA:96182
HP:0011927	Short digit	8720	MBTPS1	OMIM:618392
HP:0011927	Short digit	1457	CSNK2A1	OMIM:617062
HP:0011927	Short digit	7204	TRIO	OMIM:617061
HP:0011927	Short digit	2077	ERF	OMIM:617180
HP:0011927	Short digit	90416	CCDC32	OMIM:619123
HP:0011927	Short digit	55717	WDR11	OMIM:620237
HP:0011927	Short digit	23169	SLC35D1	OMIM:269250
HP:0011927	Short digit	285203	EOGT	ORPHA:974
HP:0011927	Short digit	23387	SIK3	OMIM:618162
HP:0011927	Short digit	5295	PIK3R1	ORPHA:3163
HP:0011927	Short digit	51371	POMP	OMIM:618048
HP:0011927	Short digit	57152	SLURP1	OMIM:248300
HP:0011927	Short digit	89970	RSPRY1	ORPHA:457395
HP:0011927	Short digit	51594	NBAS	OMIM:614800
HP:0011927	Short digit	4000	LMNA	ORPHA:168796
HP:0011927	Short digit	4000	LMNA	OMIM:610140
HP:0011927	Short digit	22800	RRAS2	ORPHA:648
HP:0011927	Short digit	867	CBL	ORPHA:648
HP:0011927	Short digit	8216	LZTR1	ORPHA:648
HP:0011927	Short digit	6016	RIT1	ORPHA:648
HP:0011927	Short digit	6237	RRAS	ORPHA:648
HP:0011927	Short digit	5894	RAF1	ORPHA:648
HP:0011927	Short digit	22808	MRAS	ORPHA:648
HP:0011927	Short digit	3845	KRAS	ORPHA:648
HP:0011927	Short digit	3845	KRAS	ORPHA:3339
HP:0011927	Short digit	200734	SPRED2	ORPHA:648
HP:0011927	Short digit	4893	NRAS	ORPHA:648
HP:0011927	Short digit	6654	SOS1	ORPHA:648
HP:0011927	Short digit	6655	SOS2	ORPHA:648
HP:0011927	Short digit	5781	PTPN11	ORPHA:648
HP:0011927	Short digit	5781	PTPN11	OMIM:163950
HP:0011927	Short digit	5922	RASA2	ORPHA:648
HP:0011927	Short digit	7474	WNT5A	OMIM:180700
HP:0011927	Short digit	7474	WNT5A	ORPHA:3107
HP:0011927	Short digit	9897	WASHC5	ORPHA:7
HP:0011927	Short digit	28952	CCDC22	ORPHA:7
HP:0011927	Short digit	11011	TLK2	OMIM:618050
HP:0011927	Short digit	5567	PRKACB	OMIM:619143
HP:0011927	Short digit	51109	RDH11	ORPHA:436245
HP:0011927	Short digit	25886	POC1A	OMIM:614813
HP:0011927	Short digit	2690	GHR	ORPHA:633
HP:0011927	Short digit	8243	SMC1A	OMIM:300590
HP:0011927	Short digit	8450	CUL4B	OMIM:300354
HP:0011927	Short digit	5885	RAD21	OMIM:614701
HP:0011927	Short digit	118429	ANTXR2	ORPHA:2176
HP:0011927	Short digit	374654	KIF7	OMIM:200990
HP:0011927	Short digit	374654	KIF7	ORPHA:2754
HP:0011927	Short digit	22858	CILK1	OMIM:612651
HP:0011927	Short digit	2314	FLII	ORPHA:819
HP:0011927	Short digit	23096	IQSEC2	ORPHA:819
HP:0011927	Short digit	10743	RAI1	ORPHA:819
HP:0011927	Short digit	10743	RAI1	OMIM:182290
HP:0011927	Short digit	10522	DEAF1	ORPHA:819
HP:0011927	Short digit	26153	KIF26A	OMIM:620156
HP:0011927	Short digit	23522	KAT6B	OMIM:606170
HP:0011927	Short digit	8289	ARID1A	OMIM:614607
HP:0011927	Short digit	4054	LTBP3	ORPHA:969
HP:0011927	Short digit	4054	LTBP3	OMIM:617809
HP:0011927	Short digit	546	ATRX	ORPHA:847
HP:0011927	Short digit	546	ATRX	OMIM:309580
HP:0011927	Short digit	222663	SCUBE3	OMIM:619184
HP:0011927	Short digit	79813	EHMT1	OMIM:610253
HP:0011927	Short digit	51021	MRPS16	OMIM:610498
HP:0011927	Short digit	1302	COL11A2	ORPHA:2021
HP:0011927	Short digit	1302	COL11A2	ORPHA:1427
HP:0011927	Short digit	4853	NOTCH2	ORPHA:955
HP:0011927	Short digit	2254	FGF9	ORPHA:3237
HP:0011927	Short digit	1802	DPH2	OMIM:620062
HP:0011927	Short digit	5307	PITX1	OMIM:186550
HP:0011927	Short digit	5307	PITX1	ORPHA:1275
HP:0011927	Short digit	1857	DVL3	ORPHA:3107
HP:0011927	Short digit	1857	DVL3	OMIM:616894
HP:0011927	Short digit	2535	FZD2	ORPHA:3107
HP:0011927	Short digit	10908	PNPLA6	ORPHA:2377
HP:0011927	Short digit	55165	CEP55	OMIM:236500
HP:0011927	Short digit	55343	SLC35C1	OMIM:266265
HP:0011927	Short digit	55027	HEATR3	OMIM:620072
HP:0011927	Short digit	10236	HNRNPR	OMIM:620073
HP:0011927	Short digit	9321	TRIP11	OMIM:184260
HP:0011927	Short digit	5159	PDGFRB	OMIM:601812
HP:0011927	Short digit	9555	MACROH2A1	ORPHA:1275
HP:0011927	Short digit	8242	KDM5C	OMIM:300534
HP:0011927	Short digit	7048	TGFBR2	OMIM:610168
HP:0011927	Short digit	8195	MKKS	ORPHA:2473
HP:0011927	Short digit	4882	NPR2	ORPHA:40
HP:0011927	Short digit	22856	CHSY1	OMIM:605282
HP:0011927	Short digit	22856	CHSY1	ORPHA:363417
HP:0011927	Short digit	50945	TBX22	ORPHA:921
HP:0011927	Short digit	2702	GJA5	OMIM:612474
HP:0011927	Short digit	2702	GJA5	ORPHA:3303
HP:0011927	Short digit	2703	GJA8	OMIM:612474
HP:0011927	Short digit	585	BBS4	OMIM:615982
HP:0011927	Short digit	129880	BBS5	OMIM:615983
HP:0011927	Short digit	27241	BBS9	OMIM:615986
HP:0011927	Short digit	9894	TELO2	OMIM:616954
HP:0011927	Short digit	9894	TELO2	ORPHA:488642
HP:0011927	Short digit	196528	ARID2	OMIM:617808
HP:0011927	Short digit	10075	HUWE1	OMIM:309590
HP:0011927	Short digit	6938	TCF12	ORPHA:35099
HP:0011927	Short digit	6938	TCF12	OMIM:615314
HP:0011927	Short digit	7545	ZIC1	ORPHA:35099
HP:0011927	Short digit	2245	FGD1	OMIM:305400
HP:0011927	Short digit	92482	BBIP1	OMIM:615995
HP:0011927	Short digit	51621	KLF13	OMIM:612001
HP:0011927	Short digit	1139	CHRNA7	OMIM:612001
HP:0011927	Short digit	54585	LZTFL1	OMIM:615994
HP:0011927	Short digit	1482	NKX2-5	ORPHA:3303
HP:0011927	Short digit	137814	NKX2-6	ORPHA:3303
HP:0011927	Short digit	23414	ZFPM2	ORPHA:3303
HP:0011927	Short digit	2626	GATA4	ORPHA:3303
HP:0011927	Short digit	3791	KDR	ORPHA:3303
HP:0011927	Short digit	2627	GATA6	ORPHA:3303
HP:0011927	Short digit	2657	GDF1	ORPHA:3303
HP:0011927	Short digit	182	JAG1	ORPHA:3303
HP:0011927	Short digit	6899	TBX1	ORPHA:3303
HP:0011927	Short digit	140628	GATA5	ORPHA:3303
HP:0011927	Short digit	2324	FLT4	ORPHA:3303
HP:0011927	Short digit	10370	CITED2	ORPHA:3303
HP:0011927	Short digit	23291	FBXW11	OMIM:618914
HP:0011927	Short digit	5053	PAH	ORPHA:2209
HP:0011927	Short digit	389827	MYMK	ORPHA:1358
HP:0011927	Short digit	101929726	MYMX	ORPHA:1358
HP:0011927	Short digit	54808	DYM	OMIM:223800
HP:0011927	Short digit	5925	RB1	ORPHA:1587
HP:0011927	Short digit	3759	KCNJ2	OMIM:170390
HP:0011927	Short digit	114548	NLRP3	ORPHA:1451
HP:0011927	Short digit	29980	DONSON	OMIM:617604
HP:0011927	Short digit	54551	MAGEL2	OMIM:615547
HP:0011927	Short digit	6638	SNRPN	ORPHA:177907
HP:0011927	Short digit	9361	LONP1	ORPHA:1458
HP:0011927	Short digit	538	ATP7A	ORPHA:198
HP:0011927	Short digit	6197	RPS6KA3	ORPHA:192
HP:0011927	Short digit	8092	ALX1	ORPHA:306542
HP:0011927	Short digit	9791	PTDSS1	ORPHA:2658
HP:0011927	Short digit	117581	TWIST2	OMIM:209885
HP:0011927	Short digit	54361	WNT4	ORPHA:247768
HP:0011927	Short digit	23556	PIGN	ORPHA:280633
HP:0011927	Short digit	55617	TASP1	OMIM:618950
HP:0011927	Short digit	4094	MAF	OMIM:601088
HP:0011927	Short digit	5331	PLCB3	OMIM:618961
HP:0011927	Short digit	387	RHOA	OMIM:618727
HP:0011927	Short digit	6913	TBX15	ORPHA:93333
HP:0011927	Short digit	10210	TOPORS	ORPHA:2754
HP:0011927	Short digit	5147	PDE6D	ORPHA:2754
HP:0011927	Short digit	51259	TMEM216	ORPHA:2754
HP:0011927	Short digit	317662	FAM149B1	ORPHA:2754
HP:0011927	Short digit	23404	EXOSC2	OMIM:617763
HP:0011927	Short digit	2036	EPB41L1	OMIM:614257
HP:0011927	Short digit	3636	INPPL1	ORPHA:2746
HP:0011927	Short digit	406932	MIR140	OMIM:618618
HP:0011927	Short digit	255758	DYNLT2B	OMIM:617405
HP:0011927	Short digit	5604	MAP2K1	OMIM:163950
HP:0011927	Short digit	673	BRAF	OMIM:163950
HP:0011927	Short digit	10262	SF3B4	OMIM:154400
HP:0011927	Short digit	5896	RAG1	ORPHA:39041
HP:0011927	Short digit	5897	RAG2	ORPHA:39041
HP:0011927	Short digit	64421	DCLRE1C	ORPHA:39041
HP:0011927	Short digit	100	ADA	ORPHA:39041
HP:0011927	Short digit	3575	IL7R	ORPHA:39041
HP:0011927	Short digit	3561	IL2RG	ORPHA:39041
HP:0011927	Short digit	1788	DNMT3A	ORPHA:404443
HP:0011927	Short digit	23426	GRIP1	OMIM:617667
HP:0011927	Short digit	25782	RAB3GAP2	OMIM:212720
HP:0011927	Short digit	3039	HBA1	ORPHA:98791
HP:0011927	Short digit	3040	HBA2	ORPHA:98791
HP:0011927	Short digit	23483	TGDS	OMIM:616145
HP:0011927	Short digit	171023	ASXL1	OMIM:605039
HP:0011927	Short digit	9509	ADAMTS2	OMIM:225410
HP:0011927	Short digit	375056	MIA3	OMIM:619269
HP:0011927	Short digit	2313	FLI1	ORPHA:2308
HP:0011927	Short digit	5281	PIGF	OMIM:619356
HP:0011927	Short digit	415	ARSL	ORPHA:79345
HP:0011927	Short digit	113246	C12orf57	OMIM:218340
HP:0011927	Short digit	59341	TRPV4	OMIM:606835
HP:0011927	Short digit	2260	FGFR1	OMIM:101600
HP:0011927	Short digit	2263	FGFR2	OMIM:101600
HP:0011927	Short digit	2261	FGFR3	OMIM:602849
HP:0011927	Short digit	7021	TFAP2B	ORPHA:46627
HP:0011927	Short digit	3481	IGF2	OMIM:180860
HP:0011927	Short digit	51199	NIN	ORPHA:319675
HP:0011927	Short digit	51199	NIN	OMIM:614851
HP:0011927	Short digit	2783	GNB2	OMIM:619503
HP:0011927	Short digit	5932	RBBP8	OMIM:251255
HP:0011927	Short digit	6662	SOX9	OMIM:114290
HP:0011927	Short digit	55777	MBD5	OMIM:156200
HP:0011927	Short digit	4613	MYCN	ORPHA:391641
HP:0011927	Short digit	4613	MYCN	OMIM:164280
HP:0011927	Short digit	1300	COL10A1	OMIM:156500
HP:0011927	Short digit	5422	POLA1	OMIM:301030
HP:0011927	Short digit	652	BMP4	OMIM:607932
HP:0011927	Short digit	9742	IFT140	OMIM:266920
HP:0011927	Short digit	5144	PDE4D	ORPHA:439822
HP:0011927	Short digit	8085	KMT2D	ORPHA:2322
HP:0011927	Short digit	7403	KDM6A	ORPHA:2322
HP:0011927	Short digit	25871	NEPRO	OMIM:618853
HP:0011927	Short digit	51053	GMNN	OMIM:616835
HP:0011927	Short digit	5116	PCNT	OMIM:210720
HP:0011927	Short digit	22995	CEP152	OMIM:613823
HP:0011927	Short digit	57572	DOCK6	OMIM:614219
HP:0011927	Short digit	55081	IFT57	OMIM:617927
HP:0011927	Short digit	407975	MIR17HG	ORPHA:391646
HP:0011927	Short digit	4297	KMT2A	OMIM:605130
HP:0011927	Short digit	9759	HDAC4	OMIM:600430
HP:0011927	Short digit	5139	PDE3A	OMIM:112410
HP:0011927	Short digit	5744	PTHLH	ORPHA:93387
HP:0011927	Short digit	3239	HOXD13	ORPHA:93387
HP:0011927	Short digit	3239	HOXD13	OMIM:113300
HP:0011927	Short digit	1280	COL2A1	OMIM:271700
HP:0011927	Short digit	84295	PHF6	OMIM:301900
HP:0011927	Short digit	3209	HOXA13	OMIM:140000
HP:0011927	Short digit	3209	HOXA13	ORPHA:2438
HP:0011927	Short digit	9451	EIF2AK3	OMIM:226980
HP:0011927	Short digit	84992	PIGY	ORPHA:247262
HP:0011927	Short digit	84992	PIGY	OMIM:616809
HP:0011927	Short digit	84720	PIGO	ORPHA:247262
HP:0011927	Short digit	84720	PIGO	OMIM:614749
HP:0011927	Short digit	93210	PGAP3	ORPHA:247262
HP:0011927	Short digit	93210	PGAP3	OMIM:615716
HP:0011927	Short digit	284098	PIGW	ORPHA:247262
HP:0011927	Short digit	27315	PGAP2	ORPHA:247262
HP:0011927	Short digit	27315	PGAP2	OMIM:614207
HP:0011927	Short digit	55650	PIGV	ORPHA:247262
HP:0011927	Short digit	9487	PIGL	ORPHA:247262
HP:0011927	Short digit	57020	VPS35L	OMIM:619135
HP:0011927	Short digit	4256	MGP	OMIM:245150
HP:0011927	Short digit	2972	BRF1	OMIM:616202
HP:0011927	Short digit	29929	ALG6	ORPHA:79320
HP:0011927	Short digit	5447	POR	ORPHA:95699
HP:0011927	Short digit	23394	ADNP	OMIM:615873
HP:0011927	Short digit	374969	SVBP	OMIM:618569
HP:0011927	Short digit	6926	TBX3	OMIM:181450
HP:0011927	Short digit	1327	COX4I1	OMIM:619060
HP:0011927	Short digit	8936	WASF1	OMIM:618707
HP:0011927	Short digit	56992	KIF15	ORPHA:261323
HP:0011927	Short digit	23162	MAPK8IP3	OMIM:618443
HP:0011927	Short digit	5648	MASP1	OMIM:257920
HP:0011927	Short digit	6597	SMARCA4	ORPHA:1465
HP:0011927	Short digit	6597	SMARCA4	OMIM:614609
HP:0011927	Short digit	6598	SMARCB1	ORPHA:1465
HP:0011927	Short digit	6659	SOX4	ORPHA:1465
HP:0011927	Short digit	6601	SMARCC2	ORPHA:1465
HP:0011927	Short digit	6602	SMARCD1	ORPHA:1465
HP:0011927	Short digit	57492	ARID1B	ORPHA:1465
HP:0011927	Short digit	5879	RAC1	ORPHA:500159
HP:0011927	Short digit	9820	CUL7	OMIM:273750
HP:0011927	Short digit	23363	OBSL1	OMIM:612921
HP:0011927	Short digit	4848	CNOT2	OMIM:618608
HP:0011927	Short digit	5286	PIK3C2A	ORPHA:557003
HP:0011927	Short digit	1028	CDKN1C	ORPHA:397590
HP:0011927	Short digit	5324	PLAG1	ORPHA:397590
HP:0011927	Short digit	8091	HMGA2	ORPHA:397590
HP:0011927	Short digit	2122	MECOM	OMIM:616738
HP:0011927	Short digit	79005	SCNM1	OMIM:620107
HP:0011927	Short digit	5745	PTH1R	OMIM:600002
HP:0011927	Short digit	650	BMP2	ORPHA:93396
HP:0011927	Short digit	242	ALOX12B	OMIM:242100
HP:0011927	Short digit	59344	ALOXE3	OMIM:242100
HP:0011927	Short digit	8820	HESX1	OMIM:182230
HP:0011927	Short digit	8820	HESX1	ORPHA:226307
HP:0011927	Short digit	4921	DDR2	OMIM:271665
HP:0011927	Short digit	64840	PORCN	OMIM:305600
HP:0011927	Short digit	26154	ABCA12	OMIM:242500
HP:0011927	Short digit	7840	ALMS1	ORPHA:64
HP:0011927	Short digit	9131	AIFM1	OMIM:300232
HP:0011927	Short digit	6134	RPL10	OMIM:300998
HP:0011927	Short digit	6134	RPL10	ORPHA:459070
HP:0011927	Short digit	5626	PROP1	ORPHA:226307
HP:0011927	Short digit	89884	LHX4	ORPHA:226307
HP:0011927	Short digit	8022	LHX3	ORPHA:226307
HP:0011927	Short digit	5449	POU1F1	ORPHA:226307
HP:0011927	Short digit	4038	LRP4	OMIM:614305
HP:0011927	Short digit	5593	PRKG2	OMIM:619636
HP:0011927	Short digit	1836	SLC26A2	ORPHA:628
HP:0011927	Short digit	1836	SLC26A2	OMIM:222600
HP:0011927	Short digit	1836	SLC26A2	ORPHA:93307
HP:0011927	Short digit	79718	TBL1XR1	OMIM:602342
HP:0011927	Short digit	79718	TBL1XR1	ORPHA:487825
HP:0011927	Short digit	2200	FBN1	OMIM:608328
HP:0011927	Short digit	4089	SMAD4	OMIM:139210
HP:0011927	Short digit	2316	FLNA	OMIM:300049
HP:0011927	Short digit	7750	ZMYM2	OMIM:619522
HP:0011927	Short digit	9578	CDC42BPB	OMIM:619841
HP:0011927	Short digit	8481	OFD1	OMIM:300209
HP:0011927	Short digit	55784	MCTP2	ORPHA:1596
HP:0011927	Short digit	176	ACAN	OMIM:612813
HP:0011927	Short digit	3930	LBR	OMIM:215140
HP:0011927	Short digit	427	ASAH1	ORPHA:333
HP:0011927	Short digit	9241	NOG	OMIM:186570
HP:0011927	Short digit	2317	FLNB	OMIM:108720
HP:0011927	Short digit	658	BMPR1B	OMIM:609441
HP:0011927	Short digit	9896	FIG4	OMIM:216340
HP:0011927	Short digit	9896	FIG4	ORPHA:3472
HP:0011927	Short digit	444	ASPH	OMIM:601552
HP:0011927	Short digit	1513	CTSK	ORPHA:763
HP:0011927	Short digit	84823	LMNB2	OMIM:619180
HP:0011927	Short digit	55697	VAC14	ORPHA:3472
HP:0011927	Short digit	164	AP1G1	OMIM:619467
HP:0011927	Short digit	57178	ZMIZ1	OMIM:618659
HP:0011927	Short digit	6023	RMRP	OMIM:607095
HP:0011927	Short digit	1146	CHRNG	OMIM:253290
HP:0011927	Short digit	1144	CHRND	OMIM:253290
HP:0011927	Short digit	1134	CHRNA1	OMIM:253290
HP:0011927	Short digit	2719	GPC3	OMIM:312870
HP:0011927	Short digit	2239	GPC4	OMIM:312870
HP:0011927	Short digit	7227	TRPS1	OMIM:190351
HP:0011927	Short digit	5130	PCYT1A	OMIM:608940
HP:0011927	Short digit	3480	IGF1R	OMIM:270450
HP:0011927	Short digit	6792	CDKL5	ORPHA:1934
HP:0011927	Short digit	3736	KCNA1	ORPHA:1934
HP:0011927	Short digit	9091	PIGQ	ORPHA:1934
HP:0011927	Short digit	2775	GNAO1	ORPHA:1934
HP:0011927	Short digit	81603	TRIM8	ORPHA:1934
HP:0011927	Short digit	2902	GRIN1	ORPHA:1934
HP:0011927	Short digit	79751	SLC25A22	ORPHA:1934
HP:0011927	Short digit	150094	SIK1	ORPHA:1934
HP:0011927	Short digit	8573	CASK	ORPHA:1934
HP:0011927	Short digit	23312	DMXL2	ORPHA:1934
HP:0011927	Short digit	2917	GRM7	ORPHA:1934
HP:0011927	Short digit	170302	ARX	ORPHA:1934
HP:0011927	Short digit	11284	PNKP	ORPHA:1934
HP:0011927	Short digit	6326	SCN2A	ORPHA:1934
HP:0011927	Short digit	51227	PIGP	ORPHA:1934
HP:0011927	Short digit	6324	SCN1B	ORPHA:1934
HP:0011927	Short digit	4761	NEUROD2	ORPHA:1934
HP:0011927	Short digit	2778	GNAS	OMIM:103580
HP:0011927	Short digit	26123	TCTN3	OMIM:258860
HP:0011927	Short digit	2879	GPX4	OMIM:250220
HP:0011927	Short digit	8200	GDF5	OMIM:113100
HP:0011927	Short digit	4212	MEIS2	OMIM:600987
HP:0011927	Short digit	10265	IRX5	OMIM:611174
HP:0011927	Short digit	10847	SRCAP	OMIM:136140
HP:0011927	Short digit	860	RUNX2	OMIM:119600
HP:0011927	Short digit	860	RUNX2	OMIM:156510
HP:0011927	Short digit	27152	INTU	OMIM:617926
HP:0011927	Short digit	57167	SALL4	ORPHA:959
HP:0011927	Short digit	6885	MAP3K7	ORPHA:1826
HP:0011927	Short digit	5293	PIK3CD	ORPHA:221139
HP:0011927	Short digit	90417	KNSTRN	ORPHA:221139
HP:0011927	Short digit	5727	PTCH1	OMIM:109400
HP:0011927	Short digit	3756	KCNH1	ORPHA:420561
HP:0011927	Short digit	23028	KDM1A	OMIM:616728
HP:0011927	Short digit	23028	KDM1A	ORPHA:477993
HP:0011927	Short digit	9401	RECQL4	OMIM:268400
HP:0011927	Short digit	29998	BICRA	OMIM:619325
HP:0011927	Short digit	2175	FANCA	OMIM:227650
HP:0011927	Short digit	1723	DHODH	OMIM:263750
HP:0011927	Short digit	55215	FANCI	OMIM:609053
HP:0011927	Short digit	83990	BRIP1	OMIM:609054
HP:0011927	Short digit	526	ATP6V1B2	ORPHA:79499
HP:0011927	Short digit	324	APC	ORPHA:3258
HP:0011927	Short digit	2188	FANCF	OMIM:603467
HP:0011927	Short digit	54880	BCOR	ORPHA:2712
HP:0011927	Short digit	157570	ESCO2	ORPHA:2319
HP:0011927	Short digit	7020	TFAP2A	OMIM:113620
HP:0011927	Short digit	1717	DHCR7	OMIM:270400
HP:0011927	Short digit	727857	BHLHA9	ORPHA:157801
HP:0011927	Short digit	10815	CPLX1	ORPHA:280
HP:0011927	Short digit	10815	CPLX1	OMIM:194190
HP:0011927	Short digit	54872	PIGG	ORPHA:280
HP:0011927	Short digit	7469	NELFA	ORPHA:280
HP:0011927	Short digit	1487	CTBP1	ORPHA:280
HP:0011927	Short digit	1487	CTBP1	OMIM:194190
HP:0011927	Short digit	3954	LETM1	ORPHA:280
HP:0011927	Short digit	3954	LETM1	OMIM:194190
HP:0011927	Short digit	7468	NSD2	ORPHA:280
HP:0011927	Short digit	7468	NSD2	OMIM:194190
HP:0011927	Short digit	2178	FANCE	OMIM:600901
HP:0011927	Short digit	55636	CHD7	OMIM:214800
HP:0011927	Short digit	25942	SIN3A	OMIM:613406
HP:0011927	Short digit	53834	FGFRL1	OMIM:194190
HP:0011927	Short digit	6135	RPL11	OMIM:612562
HP:0011927	Short digit	6135	RPL11	ORPHA:124
HP:0011927	Short digit	1387	CREBBP	OMIM:180849
HP:0011927	Short digit	2033	EP300	OMIM:180849
HP:0011927	Short digit	6125	RPL5	OMIM:612561
HP:0011927	Short digit	6125	RPL5	ORPHA:124
HP:0011927	Short digit	91461	PKDCC	OMIM:618821
HP:0011927	Short digit	80036	TRPM3	OMIM:620224
HP:0011927	Short digit	2255	FGF10	OMIM:620193
HP:0011927	Short digit	2255	FGF10	ORPHA:2363
HP:0011927	Short digit	374879	ZNF699	OMIM:619488
HP:0011927	Short digit	79728	PALB2	OMIM:610832
HP:0011927	Short digit	675	BRCA2	OMIM:605724
HP:0011927	Short digit	2177	FANCD2	OMIM:227646
HP:0011927	Short digit	5889	RAD51C	OMIM:613390
HP:0011927	Short digit	50515	CHST11	OMIM:618167
HP:0011927	Short digit	2176	FANCC	OMIM:227645
HP:0011927	Short digit	9968	MED12	OMIM:300895
HP:0011927	Short digit	4053	LTBP2	ORPHA:3449
HP:0011927	Short digit	81794	ADAMTS10	ORPHA:3449
HP:0011927	Short digit	84464	SLX4	OMIM:613951
HP:0011927	Short digit	5718	PSMD12	OMIM:617516
HP:0011927	Short digit	9939	RBM8A	OMIM:274000
HP:0011927	Short digit	6223	RPS19	OMIM:105650
HP:0011927	Short digit	6223	RPS19	ORPHA:124
HP:0011927	Short digit	6138	RPL15	ORPHA:124
HP:0011927	Short digit	6229	RPS24	ORPHA:124
HP:0011927	Short digit	6204	RPS10	ORPHA:124
HP:0011927	Short digit	6224	RPS20	ORPHA:124
HP:0011927	Short digit	6165	RPL35A	ORPHA:124
HP:0011927	Short digit	2623	GATA1	ORPHA:124
HP:0011927	Short digit	6232	RPS27	ORPHA:124
HP:0011927	Short digit	6231	RPS26	ORPHA:124
HP:0011927	Short digit	11224	RPL35	ORPHA:124
HP:0011927	Short digit	6160	RPL31	ORPHA:124
HP:0011927	Short digit	6218	RPS17	ORPHA:124
HP:0011927	Short digit	6201	RPS7	ORPHA:124
HP:0011927	Short digit	6155	RPL27	ORPHA:124
HP:0011927	Short digit	6154	RPL26	ORPHA:124
HP:0011927	Short digit	6210	RPS15A	ORPHA:124
HP:0011927	Short digit	90121	TSR2	ORPHA:124
HP:0011927	Short digit	6141	RPL18	ORPHA:124
HP:0011927	Short digit	6235	RPS29	ORPHA:124
HP:0011927	Short digit	6234	RPS28	ORPHA:124
HP:0011927	Short digit	51816	ADA2	ORPHA:124
HP:0011927	Short digit	26100	WIPI2	OMIM:618453
HP:0011927	Short digit	9775	EIF4A3	OMIM:268305
HP:0011927	Short digit	54101	RIPK4	OMIM:263650
HP:0011927	Short digit	29089	UBE2T	OMIM:616435
HP:0011927	Short digit	9488	PIGB	OMIM:618580
HP:0011927	Short digit	2335	FN1	ORPHA:93315
HP:0011927	Short digit	51412	ACTL6B	OMIM:618470
HP:0011927	Short digit	57465	TBC1D24	OMIM:220500
HP:0011927	Short digit	57465	TBC1D24	ORPHA:79500
HP:0011927	Short digit	613	BCR	ORPHA:261330
HP:0011927	Short digit	1399	CRKL	ORPHA:261330
HP:0011927	Short digit	5594	MAPK1	ORPHA:261330
HP:0011927	Short digit	10651	MTX2	ORPHA:90153
HP:0011927	Short digit	10269	ZMPSTE24	ORPHA:90154
HP:0011927	Short digit	29957	SLC25A24	ORPHA:2963
HP:0011927	Short digit	29957	SLC25A24	ORPHA:2095
HP:0011927	Short digit	29957	SLC25A24	OMIM:612289
HP:0011927	Short digit	4784	NFIX	OMIM:602535
HP:0011927	Short digit	24140	FTSJ1	OMIM:309549
HP:0011927	Short digit	5566	PRKACA	ORPHA:289
HP:0011927	Short digit	2735	GLI1	ORPHA:289
HP:0011927	Short digit	3782	KCNN3	OMIM:618658
HP:0011927	Short digit	54	ACP5	ORPHA:1855
HP:0011927	Short digit	2677	GGCX	OMIM:277450
HP:0011927	Short digit	25839	COG4	OMIM:618150
HP:0011927	Short digit	26137	ZBTB20	OMIM:259050
HP:0011927	Short digit	60401	EDA2R	ORPHA:181
HP:0011927	Short digit	1896	EDA	ORPHA:181
HP:0011927	Short digit	6605	SMARCE1	OMIM:616938
HP:0011927	Short digit	1186	CLCN7	ORPHA:53
HP:0011927	Short digit	6664	SOX11	OMIM:615866
HP:0011927	Short digit	865	CBFB	OMIM:620099
HP:0011927	Short digit	23476	BRD4	ORPHA:199
HP:0011927	Short digit	25836	NIPBL	ORPHA:199
HP:0011927	Short digit	55869	HDAC8	ORPHA:199
HP:0011927	Short digit	26040	SETBP1	OMIM:269150
HP:0011927	Short digit	26040	SETBP1	ORPHA:798
HP:0011927	Short digit	388015	RTL1	ORPHA:96334
HP:0011927	Short digit	8788	DLK1	ORPHA:96334
HP:0011927	Short digit	55384	MEG3	ORPHA:96334
HP:0011927	Short digit	3911	LAMA5	OMIM:620076
HP:0011927	Short digit	90	ACVR1	OMIM:135100
HP:0011927	Short digit	90	ACVR1	ORPHA:337
HP:0011927	Short digit	10060	ABCC9	OMIM:239850
HP:0011927	Short digit	10060	ABCC9	ORPHA:1517
HP:0011927	Short digit	22827	PUF60	ORPHA:508488
HP:0011927	Short digit	3764	KCNJ8	ORPHA:1517
HP:0011927	Short digit	2475	MTOR	OMIM:616638
HP:0011927	Short digit	3549	IHH	OMIM:607778
HP:0011927	Short digit	3516	RBPJ	OMIM:614814
HP:0011927	Short digit	1859	DYRK1A	ORPHA:268261
HP:0011927	Short digit	9653	HS2ST1	OMIM:619194
HP:0011927	Short digit	4920	ROR2	OMIM:268310
HP:0011927	Short digit	79848	CSPP1	ORPHA:397715
HP:0011927	Short digit	9786	KIAA0586	ORPHA:397715
HP:0011927	Short digit	6910	TBX5	OMIM:142900
HP:0011927	Short digit	79659	DYNC2H1	OMIM:613091
HP:0011927	Short digit	6872	TAF1	OMIM:300966
HP:0011927	Short digit	340533	NEXMIF	OMIM:300912
HP:0011927	Short digit	100151683	RNU4ATAC	OMIM:616651
HP:0011927	Short digit	94005	PIGS	OMIM:618143
HP:0011927	Short digit	1954	MEGF8	OMIM:614976
HP:0011927	Short digit	9419	CRIPT	OMIM:615789
HP:0011929	Hypersegmentation of proximal phalanx of third finger	8200	GDF5	OMIM:113100
HP:0011923	Decreased activity of mitochondrial complex I	4702	NDUFA8	OMIM:619272
HP:0011923	Decreased activity of mitochondrial complex I	54539	NDUFB11	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	54539	NDUFB11	OMIM:301021
HP:0011923	Decreased activity of mitochondrial complex I	25915	NDUFAF3	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	25915	NDUFAF3	OMIM:618240
HP:0011923	Decreased activity of mitochondrial complex I	51103	NDUFAF1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	51103	NDUFAF1	OMIM:618234
HP:0011923	Decreased activity of mitochondrial complex I	91942	NDUFAF2	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	91942	NDUFAF2	OMIM:618233
HP:0011923	Decreased activity of mitochondrial complex I	51300	TIMMDC1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	51300	TIMMDC1	OMIM:618251
HP:0011923	Decreased activity of mitochondrial complex I	4716	NDUFB10	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4716	NDUFB10	OMIM:619003
HP:0011923	Decreased activity of mitochondrial complex I	4723	NDUFV1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4723	NDUFV1	OMIM:618225
HP:0011923	Decreased activity of mitochondrial complex I	55572	FOXRED1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	55572	FOXRED1	OMIM:618241
HP:0011923	Decreased activity of mitochondrial complex I	284184	NDUFAF8	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	284184	NDUFAF8	OMIM:618776
HP:0011923	Decreased activity of mitochondrial complex I	55863	TMEM126B	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	55863	TMEM126B	OMIM:618250
HP:0011923	Decreased activity of mitochondrial complex I	4535	MT-ND1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4537	MT-ND3	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4729	NDUFV2	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4729	NDUFV2	OMIM:618229
HP:0011923	Decreased activity of mitochondrial complex I	4694	NDUFA1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4694	NDUFA1	OMIM:301020
HP:0011923	Decreased activity of mitochondrial complex I	4720	NDUFS2	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4720	NDUFS2	OMIM:618228
HP:0011923	Decreased activity of mitochondrial complex I	4724	NDUFS4	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4724	NDUFS4	OMIM:252010
HP:0011923	Decreased activity of mitochondrial complex I	4726	NDUFS6	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4726	NDUFS6	OMIM:618232
HP:0011923	Decreased activity of mitochondrial complex I	4728	NDUFS8	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4728	NDUFS8	OMIM:618222
HP:0011923	Decreased activity of mitochondrial complex I	4722	NDUFS3	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4722	NDUFS3	OMIM:618230
HP:0011923	Decreased activity of mitochondrial complex I	79133	NDUFAF5	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	79133	NDUFAF5	OMIM:618238
HP:0011923	Decreased activity of mitochondrial complex I	126328	NDUFA11	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	126328	NDUFA11	OMIM:618236
HP:0011923	Decreased activity of mitochondrial complex I	4709	NDUFB3	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4709	NDUFB3	OMIM:618246
HP:0011923	Decreased activity of mitochondrial complex I	80224	NUBPL	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	80224	NUBPL	OMIM:618242
HP:0011923	Decreased activity of mitochondrial complex I	29078	NDUFAF4	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	29078	NDUFAF4	OMIM:618237
HP:0011923	Decreased activity of mitochondrial complex I	374291	NDUFS7	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4700	NDUFA6	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4700	NDUFA6	OMIM:618253
HP:0011923	Decreased activity of mitochondrial complex I	4536	MT-ND2	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4719	NDUFS1	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4719	NDUFS1	OMIM:618226
HP:0011923	Decreased activity of mitochondrial complex I	4715	NDUFB9	ORPHA:2609
HP:0011923	Decreased activity of mitochondrial complex I	4715	NDUFB9	OMIM:618245
HP:0011923	Decreased activity of mitochondrial complex I	26235	FBXL4	OMIM:615471
HP:0011923	Decreased activity of mitochondrial complex I	51102	MECR	ORPHA:508093
HP:0011923	Decreased activity of mitochondrial complex I	498	ATP5F1A	OMIM:616045
HP:0011923	Decreased activity of mitochondrial complex I	80308	FLAD1	OMIM:255100
HP:0011923	Decreased activity of mitochondrial complex I	85476	GFM1	OMIM:609060
HP:0011923	Decreased activity of mitochondrial complex I	123263	MTFMT	OMIM:614947
HP:0011923	Decreased activity of mitochondrial complex I	123263	MTFMT	OMIM:618248
HP:0011923	Decreased activity of mitochondrial complex I	10102	TSFM	OMIM:610505
HP:0011923	Decreased activity of mitochondrial complex I	57176	VARS2	OMIM:615917
HP:0011923	Decreased activity of mitochondrial complex I	56945	MRPS22	OMIM:611719
HP:0011923	Decreased activity of mitochondrial complex I	200205	IBA57	ORPHA:468661
HP:0011923	Decreased activity of mitochondrial complex I	200205	IBA57	OMIM:615330
HP:0011923	Decreased activity of mitochondrial complex I	4695	NDUFA2	OMIM:618235
HP:0011923	Decreased activity of mitochondrial complex I	92667	MGME1	OMIM:615084
HP:0011923	Decreased activity of mitochondrial complex I	79587	CARS2	ORPHA:477774
HP:0011923	Decreased activity of mitochondrial complex I	79587	CARS2	OMIM:616672
HP:0011923	Decreased activity of mitochondrial complex I	137682	NDUFAF6	OMIM:618239
HP:0011923	Decreased activity of mitochondrial complex I	4718	NDUFC2	OMIM:619170
HP:0011923	Decreased activity of mitochondrial complex I	55967	NDUFA12	OMIM:618244
HP:0011923	Decreased activity of mitochondrial complex I	4704	NDUFA9	OMIM:618247
HP:0011923	Decreased activity of mitochondrial complex I	55037	PTCD3	OMIM:619057
HP:0011923	Decreased activity of mitochondrial complex I	4705	NDUFA10	OMIM:618243
HP:0011923	Decreased activity of mitochondrial complex I	7084	TK2	OMIM:609560
HP:0011923	Decreased activity of mitochondrial complex I	4358	MPV17	OMIM:256810
HP:0011923	Decreased activity of mitochondrial complex I	51079	NDUFA13	OMIM:618249
HP:0011923	Decreased activity of mitochondrial complex I	708	C1QBP	OMIM:617713
HP:0011923	Decreased activity of mitochondrial complex I	54675	CRLS1	OMIM:620167
HP:0011923	Decreased activity of mitochondrial complex I	55750	AGK	OMIM:212350
HP:0011923	Decreased activity of mitochondrial complex I	1716	DGUOK	OMIM:251880
HP:0011923	Decreased activity of mitochondrial complex I	8802	SUCLG1	OMIM:245400
HP:0011923	Decreased activity of mitochondrial complex I	8802	SUCLG1	ORPHA:17
HP:0011923	Decreased activity of mitochondrial complex I	80324	PUS1	OMIM:600462
HP:0011923	Decreased activity of mitochondrial complex I	4556	MT-TE	ORPHA:254864
HP:0011923	Decreased activity of mitochondrial complex I	55687	TRMU	ORPHA:254864
HP:0011923	Decreased activity of mitochondrial complex I	63931	MRPS14	OMIM:618378
HP:0011923	Decreased activity of mitochondrial complex I	4714	NDUFB8	OMIM:618252
HP:0011923	Decreased activity of mitochondrial complex I	84705	GTPBP3	OMIM:616198
HP:0011923	Decreased activity of mitochondrial complex I	84705	GTPBP3	ORPHA:444013
HP:0011923	Decreased activity of mitochondrial complex I	388962	BOLA3	OMIM:614299
HP:0011923	Decreased activity of mitochondrial complex I	84300	UQCC2	OMIM:615824
HP:0011923	Decreased activity of mitochondrial complex I	51021	MRPS16	OMIM:610498
HP:0011923	Decreased activity of mitochondrial complex I	79731	NARS2	OMIM:616239
HP:0011923	Decreased activity of mitochondrial complex I	28976	ACAD9	ORPHA:99901
HP:0011923	Decreased activity of mitochondrial complex I	28976	ACAD9	OMIM:611126
HP:0011923	Decreased activity of mitochondrial complex I	122961	ISCA2	OMIM:616370
HP:0011923	Decreased activity of mitochondrial complex I	6182	MRPL12	OMIM:618951
HP:0011923	Decreased activity of mitochondrial complex I	291	SLC25A4	OMIM:617184
HP:0011923	Decreased activity of mitochondrial complex I	25828	TXN2	ORPHA:478029
HP:0011923	Decreased activity of mitochondrial complex I	25828	TXN2	OMIM:616811
HP:0011923	Decreased activity of mitochondrial complex I	60528	ELAC2	OMIM:615440
HP:0011923	Decreased activity of mitochondrial complex I	55278	QRSL1	OMIM:618835
HP:0011923	Decreased activity of mitochondrial complex I	5428	POLG	OMIM:613662
HP:0011923	Decreased activity of mitochondrial complex I	57570	TRMT5	OMIM:616539
HP:0011923	Decreased activity of mitochondrial complex I	51649	MRPS23	OMIM:618952
HP:0011923	Decreased activity of mitochondrial complex I	57038	RARS2	OMIM:611523
HP:0011923	Decreased activity of mitochondrial complex I	283459	GATC	OMIM:618839
HP:0011923	Decreased activity of mitochondrial complex I	54802	TRIT1	OMIM:617873
HP:0011923	Decreased activity of mitochondrial complex I	63899	NSUN3	OMIM:619012
HP:0011923	Decreased activity of mitochondrial complex I	119559	SFXN4	OMIM:615578
HP:0011923	Decreased activity of mitochondrial complex I	29960	MRM2	OMIM:618567
HP:0011923	Decreased activity of mitochondrial complex I	91574	MTRFR	OMIM:613559
HP:0011923	Decreased activity of mitochondrial complex I	124454	EARS2	OMIM:614924
HP:0011923	Decreased activity of mitochondrial complex I	23479	ISCU	OMIM:255125
HP:0011923	Decreased activity of mitochondrial complex I	57505	AARS2	OMIM:614096
HP:0011923	Decreased activity of mitochondrial complex I	1468	SLC25A10	OMIM:618972
HP:0011923	Decreased activity of mitochondrial complex I	29928	TIMM22	OMIM:618851
HP:0011923	Decreased activity of mitochondrial complex I	115286	SLC25A26	OMIM:616794
HP:0011923	Decreased activity of mitochondrial complex I	51067	YARS2	OMIM:613561
HP:0011923	Decreased activity of mitochondrial complex I	125170	MIEF2	OMIM:619024
HP:0011923	Decreased activity of mitochondrial complex I	4713	NDUFB7	OMIM:620135
HP:0001710	Conotruncal defect	22827	PUF60	ORPHA:508498
HP:0001710	Conotruncal defect	2294	FOXF1	OMIM:265380
HP:0001710	Conotruncal defect	2294	FOXF1	ORPHA:210122
HP:0001710	Conotruncal defect	23129	PLXND1	ORPHA:3384
HP:0001710	Conotruncal defect	10262	SF3B4	OMIM:154400
HP:0001710	Conotruncal defect	123606	NIPA1	ORPHA:261183
HP:0001710	Conotruncal defect	7283	TUBG1	ORPHA:261183
HP:0001710	Conotruncal defect	81614	NIPA2	ORPHA:261183
HP:0001710	Conotruncal defect	1024	CDK8	OMIM:618748
HP:0001710	Conotruncal defect	100151683	RNU4ATAC	OMIM:210710
HP:0001710	Conotruncal defect	23556	PIGN	ORPHA:2059
HP:0001710	Conotruncal defect	5885	RAD21	OMIM:614701
HP:0001710	Conotruncal defect	7355	SLC35A2	ORPHA:356961
HP:0001710	Conotruncal defect	22800	RRAS2	OMIM:618624
HP:0001710	Conotruncal defect	79813	EHMT1	ORPHA:96147
HP:0001710	Conotruncal defect	10992	SF3B2	OMIM:164210
HP:0001710	Conotruncal defect	2626	GATA4	OMIM:614429
HP:0001710	Conotruncal defect	2626	GATA4	ORPHA:3303
HP:0001710	Conotruncal defect	2626	GATA4	ORPHA:251071
HP:0001710	Conotruncal defect	2626	GATA4	OMIM:615542
HP:0001710	Conotruncal defect	2626	GATA4	OMIM:187500
HP:0001710	Conotruncal defect	1131	CHRM3	ORPHA:2970
HP:0001710	Conotruncal defect	64220	STRA6	OMIM:601186
HP:0001710	Conotruncal defect	2702	GJA5	ORPHA:3303
HP:0001710	Conotruncal defect	23414	ZFPM2	ORPHA:3303
HP:0001710	Conotruncal defect	23414	ZFPM2	OMIM:187500
HP:0001710	Conotruncal defect	3791	KDR	ORPHA:3303
HP:0001710	Conotruncal defect	182	JAG1	ORPHA:3303
HP:0001710	Conotruncal defect	182	JAG1	OMIM:118450
HP:0001710	Conotruncal defect	182	JAG1	OMIM:187500
HP:0001710	Conotruncal defect	182	JAG1	OMIM:617992
HP:0001710	Conotruncal defect	2324	FLT4	ORPHA:3303
HP:0001710	Conotruncal defect	2324	FLT4	OMIM:618780
HP:0001710	Conotruncal defect	10370	CITED2	ORPHA:3303
HP:0001710	Conotruncal defect	6299	SALL1	OMIM:107480
HP:0001710	Conotruncal defect	6299	SALL1	ORPHA:857
HP:0001710	Conotruncal defect	7490	WT1	ORPHA:3097
HP:0001710	Conotruncal defect	7490	WT1	OMIM:608978
HP:0001710	Conotruncal defect	8443	GNPAT	OMIM:222765
HP:0001710	Conotruncal defect	1349	COX7B	OMIM:300887
HP:0001710	Conotruncal defect	26275	HIBCH	ORPHA:88639
HP:0001710	Conotruncal defect	26275	HIBCH	OMIM:250620
HP:0001710	Conotruncal defect	29998	BICRA	OMIM:619325
HP:0001710	Conotruncal defect	83479	DDX59	OMIM:174300
HP:0001710	Conotruncal defect	83479	DDX59	ORPHA:2919
HP:0001710	Conotruncal defect	10847	SRCAP	ORPHA:2044
HP:0001710	Conotruncal defect	23384	SPECC1L	ORPHA:1519
HP:0001710	Conotruncal defect	9723	SEMA3E	ORPHA:138
HP:0001710	Conotruncal defect	2260	FGFR1	ORPHA:280200
HP:0001710	Conotruncal defect	28514	DLL1	ORPHA:280200
HP:0001710	Conotruncal defect	2253	FGF8	ORPHA:280200
HP:0001710	Conotruncal defect	6496	SIX3	ORPHA:280200
HP:0001710	Conotruncal defect	7050	TGIF1	ORPHA:280200
HP:0001710	Conotruncal defect	6469	SHH	ORPHA:280200
HP:0001710	Conotruncal defect	51684	SUFU	ORPHA:280200
HP:0001710	Conotruncal defect	7546	ZIC2	ORPHA:280200
HP:0001710	Conotruncal defect	2619	GAS1	ORPHA:280200
HP:0001710	Conotruncal defect	84976	DISP1	ORPHA:280200
HP:0001710	Conotruncal defect	2736	GLI2	ORPHA:280200
HP:0001710	Conotruncal defect	8928	FOXH1	ORPHA:280200
HP:0001710	Conotruncal defect	5727	PTCH1	ORPHA:280200
HP:0001710	Conotruncal defect	50937	CDON	ORPHA:280200
HP:0001710	Conotruncal defect	57492	ARID1B	OMIM:135900
HP:0001710	Conotruncal defect	57492	ARID1B	ORPHA:1465
HP:0001710	Conotruncal defect	6597	SMARCA4	ORPHA:1465
HP:0001710	Conotruncal defect	6598	SMARCB1	ORPHA:1465
HP:0001710	Conotruncal defect	6659	SOX4	ORPHA:1465
HP:0001710	Conotruncal defect	8289	ARID1A	ORPHA:1465
HP:0001710	Conotruncal defect	5977	DPF2	ORPHA:1465
HP:0001710	Conotruncal defect	6601	SMARCC2	ORPHA:1465
HP:0001710	Conotruncal defect	6602	SMARCD1	ORPHA:1465
HP:0001710	Conotruncal defect	196528	ARID2	ORPHA:1465
HP:0001710	Conotruncal defect	6605	SMARCE1	ORPHA:1465
HP:0001710	Conotruncal defect	6664	SOX11	ORPHA:1465
HP:0001710	Conotruncal defect	1147	CHUK	OMIM:613630
HP:0001710	Conotruncal defect	1108	CHD4	OMIM:617159
HP:0001710	Conotruncal defect	7026	NR2F2	OMIM:615779
HP:0001710	Conotruncal defect	64359	NXN	ORPHA:1507
HP:0001710	Conotruncal defect	4920	ROR2	ORPHA:1507
HP:0001710	Conotruncal defect	672	BRCA1	ORPHA:84
HP:0001710	Conotruncal defect	10459	MAD2L2	ORPHA:84
HP:0001710	Conotruncal defect	7516	XRCC2	ORPHA:84
HP:0001710	Conotruncal defect	29089	UBE2T	ORPHA:84
HP:0001710	Conotruncal defect	675	BRCA2	ORPHA:84
HP:0001710	Conotruncal defect	55120	FANCL	ORPHA:84
HP:0001710	Conotruncal defect	2177	FANCD2	ORPHA:84
HP:0001710	Conotruncal defect	2175	FANCA	ORPHA:84
HP:0001710	Conotruncal defect	2187	FANCB	ORPHA:84
HP:0001710	Conotruncal defect	2176	FANCC	ORPHA:84
HP:0001710	Conotruncal defect	2178	FANCE	ORPHA:84
HP:0001710	Conotruncal defect	2188	FANCF	ORPHA:84
HP:0001710	Conotruncal defect	2189	FANCG	ORPHA:84
HP:0001710	Conotruncal defect	5888	RAD51	ORPHA:84
HP:0001710	Conotruncal defect	5889	RAD51C	ORPHA:84
HP:0001710	Conotruncal defect	55159	RFWD3	ORPHA:84
HP:0001710	Conotruncal defect	83990	BRIP1	ORPHA:84
HP:0001710	Conotruncal defect	57697	FANCM	ORPHA:84
HP:0001710	Conotruncal defect	79728	PALB2	ORPHA:84
HP:0001710	Conotruncal defect	84464	SLX4	ORPHA:84
HP:0001710	Conotruncal defect	2072	ERCC4	ORPHA:84
HP:0001710	Conotruncal defect	55215	FANCI	ORPHA:84
HP:0001710	Conotruncal defect	1312	COMT	ORPHA:567
HP:0001710	Conotruncal defect	221037	JMJD1C	ORPHA:567
HP:0001710	Conotruncal defect	2812	GP1BB	ORPHA:567
HP:0001710	Conotruncal defect	6239	RREB1	ORPHA:567
HP:0001710	Conotruncal defect	7290	HIRA	ORPHA:567
HP:0001710	Conotruncal defect	9632	SEC24C	ORPHA:567
HP:0001710	Conotruncal defect	7353	UFD1	ORPHA:567
HP:0001710	Conotruncal defect	421	ARVCF	ORPHA:567
HP:0001710	Conotruncal defect	9839	ZEB2	ORPHA:261552
HP:0001710	Conotruncal defect	9839	ZEB2	ORPHA:261537
HP:0001710	Conotruncal defect	9896	FIG4	ORPHA:3472
HP:0001710	Conotruncal defect	9896	FIG4	OMIM:216340
HP:0001710	Conotruncal defect	55697	VAC14	ORPHA:3472
HP:0001710	Conotruncal defect	7852	CXCR4	ORPHA:51636
HP:0001710	Conotruncal defect	8550	MAPKAPK5	OMIM:619869
HP:0001710	Conotruncal defect	57167	SALL4	ORPHA:959
HP:0001710	Conotruncal defect	57167	SALL4	OMIM:147750
HP:0001710	Conotruncal defect	8241	RBM10	OMIM:311900
HP:0001710	Conotruncal defect	8241	RBM10	ORPHA:2886
HP:0001710	Conotruncal defect	23118	TAB2	OMIM:614980
HP:0001710	Conotruncal defect	8092	ALX1	ORPHA:306542
HP:0001710	Conotruncal defect	6135	RPL11	OMIM:612562
HP:0001710	Conotruncal defect	6125	RPL5	OMIM:612561
HP:0001710	Conotruncal defect	57514	ARHGAP31	OMIM:100300
HP:0001710	Conotruncal defect	57514	ARHGAP31	ORPHA:974
HP:0001710	Conotruncal defect	6804	STX1A	ORPHA:904
HP:0001710	Conotruncal defect	7461	CLIP2	ORPHA:904
HP:0001710	Conotruncal defect	84277	DNAJC30	ORPHA:904
HP:0001710	Conotruncal defect	8468	FKBP6	ORPHA:904
HP:0001710	Conotruncal defect	5982	RFC2	ORPHA:904
HP:0001710	Conotruncal defect	2969	GTF2I	ORPHA:904
HP:0001710	Conotruncal defect	3984	LIMK1	ORPHA:904
HP:0001710	Conotruncal defect	9569	GTF2IRD1	ORPHA:904
HP:0001710	Conotruncal defect	155382	VPS37D	ORPHA:904
HP:0001710	Conotruncal defect	155368	METTL27	ORPHA:904
HP:0001710	Conotruncal defect	114049	BUD23	ORPHA:904
HP:0001710	Conotruncal defect	7458	EIF4H	ORPHA:904
HP:0001710	Conotruncal defect	84163	GTF2IRD2	ORPHA:904
HP:0001710	Conotruncal defect	9275	BCL7B	ORPHA:904
HP:0001710	Conotruncal defect	26608	TBL2	ORPHA:904
HP:0001710	Conotruncal defect	653361	NCF1	ORPHA:904
HP:0001710	Conotruncal defect	135886	TMEM270	ORPHA:904
HP:0001710	Conotruncal defect	51085	MLXIPL	ORPHA:904
HP:0001710	Conotruncal defect	9031	BAZ1B	ORPHA:904
HP:0001710	Conotruncal defect	2006	ELN	ORPHA:904
HP:0001710	Conotruncal defect	5590	PRKCZ	ORPHA:1606
HP:0001710	Conotruncal defect	2563	GABRD	ORPHA:1606
HP:0001710	Conotruncal defect	23013	SPEN	ORPHA:1606
HP:0001710	Conotruncal defect	8510	MMP23B	ORPHA:1606
HP:0001710	Conotruncal defect	7798	LUZP1	ORPHA:1606
HP:0001710	Conotruncal defect	6497	SKI	ORPHA:1606
HP:0001710	Conotruncal defect	10630	PDPN	ORPHA:1606
HP:0001710	Conotruncal defect	3339	HSPG2	ORPHA:1606
HP:0001710	Conotruncal defect	10277	UBE4B	ORPHA:1606
HP:0001710	Conotruncal defect	8514	KCNAB2	ORPHA:1606
HP:0001710	Conotruncal defect	473	RERE	ORPHA:1606
HP:0001710	Conotruncal defect	63976	PRDM16	ORPHA:1606
HP:0001710	Conotruncal defect	54897	CASZ1	ORPHA:1606
HP:0001710	Conotruncal defect	51715	RAB23	OMIM:201000
HP:0001710	Conotruncal defect	3579	CXCR2	OMIM:619407
HP:0001710	Conotruncal defect	2542	SLC37A4	OMIM:619525
HP:0001710	Conotruncal defect	9993	DGCR2	OMIM:192430
HP:0001710	Conotruncal defect	8220	ESS2	OMIM:192430
HP:0001710	Conotruncal defect	8214	DGCR6	OMIM:192430
HP:0001710	Conotruncal defect	54487	DGCR8	OMIM:192430
HP:0001710	Conotruncal defect	51339	DACT1	ORPHA:857
HP:0001710	Conotruncal defect	673	BRAF	OMIM:613707
HP:0001710	Conotruncal defect	3516	RBPJ	ORPHA:974
HP:0001710	Conotruncal defect	57572	DOCK6	ORPHA:974
HP:0001710	Conotruncal defect	285203	EOGT	ORPHA:974
HP:0001710	Conotruncal defect	54567	DLL4	ORPHA:974
HP:0001710	Conotruncal defect	745	MYRF	OMIM:618280
HP:0001710	Conotruncal defect	775	CACNA1C	OMIM:601005
HP:0001710	Conotruncal defect	10084	PQBP1	OMIM:309500
HP:0001710	Conotruncal defect	9652	SKIC3	OMIM:222470
HP:0001710	Conotruncal defect	9652	SKIC3	ORPHA:84064
HP:0001710	Conotruncal defect	1663	DDX11	OMIM:613398
HP:0001710	Conotruncal defect	54916	TMEM260	OMIM:617478
HP:0001710	Conotruncal defect	8195	MKKS	ORPHA:2473
HP:0001710	Conotruncal defect	9939	RBM8A	ORPHA:3320
HP:0001710	Conotruncal defect	9939	RBM8A	OMIM:274000
HP:0001710	Conotruncal defect	4853	NOTCH2	OMIM:610205
HP:0001710	Conotruncal defect	28952	CCDC22	ORPHA:7
HP:0001710	Conotruncal defect	257	ALX3	OMIM:136760
HP:0001710	Conotruncal defect	2303	FOXC2	OMIM:153400
HP:0001710	Conotruncal defect	6499	SKIC2	ORPHA:84064
HP:0001710	Conotruncal defect	27152	INTU	OMIM:617925
HP:0001710	Conotruncal defect	27152	INTU	OMIM:617926
HP:0001710	Conotruncal defect	7547	ZIC3	OMIM:306955
HP:0001710	Conotruncal defect	9897	WASHC5	OMIM:220210
HP:0001710	Conotruncal defect	10735	STAG2	OMIM:301043
HP:0001710	Conotruncal defect	6909	TBX2	OMIM:618223
HP:0001710	Conotruncal defect	23007	PLCH1	OMIM:619895
HP:0001710	Conotruncal defect	10526	IPO8	OMIM:619472
HP:0001710	Conotruncal defect	84231	TRAF7	OMIM:618164
HP:0001710	Conotruncal defect	9487	PIGL	OMIM:280000
HP:0001710	Conotruncal defect	4087	SMAD2	OMIM:619657
HP:0001710	Conotruncal defect	140628	GATA5	OMIM:617912
HP:0001710	Conotruncal defect	5824	PEX19	OMIM:614886
HP:0001710	Conotruncal defect	55191	NADSYN1	OMIM:618845
HP:0001710	Conotruncal defect	2657	GDF1	OMIM:613854
HP:0001710	Conotruncal defect	4838	NODAL	OMIM:270100
HP:0001710	Conotruncal defect	526	ATP6V1B2	ORPHA:79500
HP:0001710	Conotruncal defect	57465	TBC1D24	ORPHA:79500
HP:0001710	Conotruncal defect	9451	EIF2AK3	ORPHA:1667
HP:0001710	Conotruncal defect	4851	NOTCH1	OMIM:109730
HP:0001710	Conotruncal defect	55593	OTUD5	OMIM:301056
HP:0001710	Conotruncal defect	4313	MMP2	ORPHA:371428
HP:0001710	Conotruncal defect	4323	MMP14	ORPHA:371428
HP:0001710	Conotruncal defect	25981	DNAH1	ORPHA:244
HP:0001710	Conotruncal defect	115948	ODAD3	ORPHA:244
HP:0001710	Conotruncal defect	54768	HYDIN	ORPHA:244
HP:0001710	Conotruncal defect	352909	DNAAF3	ORPHA:244
HP:0001710	Conotruncal defect	27148	STK36	ORPHA:244
HP:0001710	Conotruncal defect	51314	NME8	ORPHA:244
HP:0001710	Conotruncal defect	92749	DRC1	ORPHA:244
HP:0001710	Conotruncal defect	54970	TTC12	ORPHA:244
HP:0001710	Conotruncal defect	152110	NEK10	ORPHA:244
HP:0001710	Conotruncal defect	8481	OFD1	ORPHA:244
HP:0001710	Conotruncal defect	2302	FOXJ1	ORPHA:244
HP:0001710	Conotruncal defect	221421	RSPH9	ORPHA:244
HP:0001710	Conotruncal defect	85478	CCDC65	ORPHA:244
HP:0001710	Conotruncal defect	55036	CCDC40	ORPHA:244
HP:0001710	Conotruncal defect	51364	ZMYND10	ORPHA:244
HP:0001710	Conotruncal defect	64446	DNAI2	ORPHA:244
HP:0001710	Conotruncal defect	6674	SPAG1	ORPHA:244
HP:0001710	Conotruncal defect	83544	DNAL1	ORPHA:244
HP:0001710	Conotruncal defect	89765	RSPH1	ORPHA:244
HP:0001710	Conotruncal defect	83538	ODAD4	ORPHA:244
HP:0001710	Conotruncal defect	200373	CFAP221	ORPHA:244
HP:0001710	Conotruncal defect	374407	DNAJB13	ORPHA:244
HP:0001710	Conotruncal defect	55172	DNAAF2	ORPHA:244
HP:0001710	Conotruncal defect	161582	DNAAF4	ORPHA:244
HP:0001710	Conotruncal defect	2622	GAS8	ORPHA:244
HP:0001710	Conotruncal defect	23639	DNAAF11	ORPHA:244
HP:0001710	Conotruncal defect	27019	DNAI1	ORPHA:244
HP:0001710	Conotruncal defect	345895	RSPH4A	ORPHA:244
HP:0001710	Conotruncal defect	54919	DNAAF5	ORPHA:244
HP:0001710	Conotruncal defect	6103	RPGR	ORPHA:244
HP:0001710	Conotruncal defect	388389	CCDC103	ORPHA:244
HP:0001710	Conotruncal defect	93233	ODAD1	ORPHA:244
HP:0001710	Conotruncal defect	93233	ODAD1	OMIM:615067
HP:0001710	Conotruncal defect	55130	ODAD2	ORPHA:244
HP:0001710	Conotruncal defect	1767	DNAH5	ORPHA:244
HP:0001710	Conotruncal defect	83861	RSPH3	ORPHA:244
HP:0001710	Conotruncal defect	345643	MCIDAS	ORPHA:244
HP:0001710	Conotruncal defect	56683	CFAP298	ORPHA:244
HP:0001710	Conotruncal defect	79925	SPEF2	ORPHA:244
HP:0001710	Conotruncal defect	10309	CCNO	ORPHA:244
HP:0001710	Conotruncal defect	115399	LRRC56	ORPHA:244
HP:0001710	Conotruncal defect	115399	LRRC56	OMIM:618254
HP:0001710	Conotruncal defect	139212	DNAAF6	ORPHA:244
HP:0001710	Conotruncal defect	123872	DNAAF1	ORPHA:244
HP:0001710	Conotruncal defect	85016	CFAP300	ORPHA:244
HP:0001710	Conotruncal defect	339829	CCDC39	ORPHA:244
HP:0001710	Conotruncal defect	8701	DNAH11	ORPHA:244
HP:0001710	Conotruncal defect	1770	DNAH9	ORPHA:244
HP:0001710	Conotruncal defect	246176	GAS2L2	ORPHA:244
HP:0001710	Conotruncal defect	10743	RAI1	ORPHA:477817
HP:0001710	Conotruncal defect	54880	BCOR	OMIM:300166
HP:0001710	Conotruncal defect	285590	SH3PXD2B	OMIM:249420
HP:0001710	Conotruncal defect	2623	GATA1	OMIM:190685
HP:0001710	Conotruncal defect	168507	PKD1L1	OMIM:617205
HP:0001710	Conotruncal defect	220136	CFAP53	OMIM:614779
HP:0001710	Conotruncal defect	55636	CHD7	OMIM:214800
HP:0001710	Conotruncal defect	2783	GNB2	OMIM:619503
HP:0001710	Conotruncal defect	7319	UBE2A	ORPHA:163956
HP:0001710	Conotruncal defect	9772	TMEM94	OMIM:618316
HP:0001710	Conotruncal defect	100128908	CIROP	OMIM:619702
HP:0001710	Conotruncal defect	55997	CFC1	OMIM:605376
HP:0001710	Conotruncal defect	137814	NKX2-6	OMIM:217095
HP:0001710	Conotruncal defect	1482	NKX2-5	OMIM:217095
HP:0001710	Conotruncal defect	6899	TBX1	OMIM:217095
HP:0001710	Conotruncal defect	2627	GATA6	OMIM:217095
HP:0001710	Conotruncal defect	5053	PAH	ORPHA:2209
HP:0001710	Conotruncal defect	55784	MCTP2	ORPHA:1596
HP:0001710	Conotruncal defect	26191	PTPN22	ORPHA:397
HP:0001710	Conotruncal defect	3106	HLA-B	ORPHA:397
HP:0001710	Conotruncal defect	3123	HLA-DRB1	ORPHA:397
HP:0001710	Conotruncal defect	8974	P4HA2	ORPHA:397
HP:0001711	Abnormal left ventricle morphology	9759	HDAC4	OMIM:600430
HP:0001711	Abnormal left ventricle morphology	7547	ZIC3	OMIM:306955
HP:0001711	Abnormal left ventricle morphology	64135	IFIH1	OMIM:182250
HP:0001711	Abnormal left ventricle morphology	9184	BUB3	ORPHA:1052
HP:0001711	Abnormal left ventricle morphology	699	BUB1	ORPHA:1052
HP:0001711	Abnormal left ventricle morphology	9702	CEP57	ORPHA:1052
HP:0001711	Abnormal left ventricle morphology	9702	CEP57	OMIM:614114
HP:0001711	Abnormal left ventricle morphology	9319	TRIP13	ORPHA:1052
HP:0001711	Abnormal left ventricle morphology	701	BUB1B	ORPHA:1052
HP:0001711	Abnormal left ventricle morphology	4624	MYH6	OMIM:192600
HP:0001711	Abnormal left ventricle morphology	4625	MYH7	OMIM:192600
HP:0001711	Abnormal left ventricle morphology	859	CAV3	OMIM:192600
HP:0001711	Abnormal left ventricle morphology	85366	MYLK2	OMIM:192600
HP:0001711	Abnormal left ventricle morphology	5781	PTPN11	OMIM:151100
HP:0001711	Abnormal left ventricle morphology	127833	SYT2	OMIM:619461
HP:0001711	Abnormal left ventricle morphology	23118	TAB2	OMIM:614980
HP:0001711	Abnormal left ventricle morphology	54914	FOCAD	OMIM:619991
HP:0001711	Abnormal left ventricle morphology	2260	FGFR1	OMIM:613001
HP:0001711	Abnormal left ventricle morphology	9487	PIGL	OMIM:280000
HP:0001711	Abnormal left ventricle morphology	2783	GNB2	OMIM:619503
HP:0001711	Abnormal left ventricle morphology	1482	NKX2-5	OMIM:108900
HP:0001711	Abnormal left ventricle morphology	171019	ADAMTS19	OMIM:620067
HP:0001711	Abnormal left ventricle morphology	51057	WDPCP	OMIM:217085
HP:0001711	Abnormal left ventricle morphology	51057	WDPCP	ORPHA:1338
HP:0001711	Abnormal left ventricle morphology	4088	SMAD3	ORPHA:284984
HP:0001711	Abnormal left ventricle morphology	4088	SMAD3	OMIM:613795
HP:0001711	Abnormal left ventricle morphology	274	BIN1	ORPHA:169186
HP:0001711	Abnormal left ventricle morphology	10290	SPEG	ORPHA:169186
HP:0001711	Abnormal left ventricle morphology	6261	RYR1	ORPHA:169186
HP:0001711	Abnormal left ventricle morphology	7273	TTN	ORPHA:169186
HP:0001711	Abnormal left ventricle morphology	291	SLC25A4	ORPHA:254892
HP:0001711	Abnormal left ventricle morphology	291	SLC25A4	OMIM:615418
HP:0001711	Abnormal left ventricle morphology	5428	POLG	ORPHA:254892
HP:0001711	Abnormal left ventricle morphology	56652	TWNK	ORPHA:254892
HP:0001711	Abnormal left ventricle morphology	11232	POLG2	ORPHA:254892
HP:0001711	Abnormal left ventricle morphology	50484	RRM2B	ORPHA:254892
HP:0001711	Abnormal left ventricle morphology	10128	LRPPRC	OMIM:220111
HP:0001711	Abnormal left ventricle morphology	8216	LZTR1	OMIM:616564
HP:0001711	Abnormal left ventricle morphology	776	CACNA1D	OMIM:615474
HP:0001711	Abnormal left ventricle morphology	6331	SCN5A	OMIM:614022
HP:0001711	Abnormal left ventricle morphology	5663	PSEN1	OMIM:613694
HP:0001711	Abnormal left ventricle morphology	6016	RIT1	OMIM:615355
HP:0001711	Abnormal left ventricle morphology	5664	PSEN2	OMIM:613697
HP:0001711	Abnormal left ventricle morphology	19	ABCA1	OMIM:205400
HP:0001711	Abnormal left ventricle morphology	19	ABCA1	ORPHA:31150
HP:0001711	Abnormal left ventricle morphology	57539	WDR35	OMIM:613610
HP:0001711	Abnormal left ventricle morphology	2997	GYS1	OMIM:611556
HP:0001711	Abnormal left ventricle morphology	4720	NDUFS2	OMIM:618228
HP:0001711	Abnormal left ventricle morphology	51343	FZR1	OMIM:620145
HP:0001711	Abnormal left ventricle morphology	10159	ATP6AP2	ORPHA:93952
HP:0001711	Abnormal left ventricle morphology	6840	SVIL	OMIM:619040
HP:0001711	Abnormal left ventricle morphology	10021	HCN4	OMIM:163800
HP:0001711	Abnormal left ventricle morphology	51218	GLRX5	ORPHA:401866
HP:0001711	Abnormal left ventricle morphology	1837	DTNA	OMIM:604169
HP:0001711	Abnormal left ventricle morphology	6341	SCO1	OMIM:619048
HP:0001711	Abnormal left ventricle morphology	1278	COL1A2	ORPHA:230851
HP:0001711	Abnormal left ventricle morphology	83715	ESPN	OMIM:618632
HP:0001711	Abnormal left ventricle morphology	6392	SDHD	OMIM:619167
HP:0001711	Abnormal left ventricle morphology	6392	SDHD	ORPHA:3208
HP:0001711	Abnormal left ventricle morphology	10229	COQ7	OMIM:616733
HP:0001711	Abnormal left ventricle morphology	84665	MYPN	OMIM:615248
HP:0001711	Abnormal left ventricle morphology	54931	TRMT10C	OMIM:616974
HP:0001711	Abnormal left ventricle morphology	9382	COG1	OMIM:611209
HP:0001711	Abnormal left ventricle morphology	6868	ADAM17	ORPHA:294023
HP:0001711	Abnormal left ventricle morphology	1956	EGFR	ORPHA:294023
HP:0001711	Abnormal left ventricle morphology	79158	GNPTAB	ORPHA:576
HP:0001711	Abnormal left ventricle morphology	4512	MT-CO1	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4513	MT-CO2	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4514	MT-CO3	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4519	MT-CYB	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4511	MT-TC	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4574	MT-TS1	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4575	MT-TS2	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4558	MT-TF	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4541	MT-ND6	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4567	MT-TL1	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4540	MT-ND5	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4566	MT-TK	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4535	MT-ND1	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4572	MT-TQ	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4577	MT-TV	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4578	MT-TW	OMIM:540000
HP:0001711	Abnormal left ventricle morphology	4633	MYL2	OMIM:608758
HP:0001711	Abnormal left ventricle morphology	153642	ARSK	OMIM:619698
HP:0001711	Abnormal left ventricle morphology	57158	JPH2	OMIM:613873
HP:0001711	Abnormal left ventricle morphology	5350	PLN	OMIM:613874
HP:0001711	Abnormal left ventricle morphology	84100	ARL6	OMIM:209900
HP:0001711	Abnormal left ventricle morphology	79140	CCDC28B	OMIM:209900
HP:0001711	Abnormal left ventricle morphology	582	BBS1	OMIM:209900
HP:0001711	Abnormal left ventricle morphology	708	C1QBP	OMIM:617713
HP:0001711	Abnormal left ventricle morphology	91624	NEXN	OMIM:613876
HP:0001711	Abnormal left ventricle morphology	1201	CLN3	ORPHA:228346
HP:0001711	Abnormal left ventricle morphology	4634	MYL3	OMIM:608751
HP:0001711	Abnormal left ventricle morphology	2717	GLA	ORPHA:324
HP:0001711	Abnormal left ventricle morphology	2717	GLA	OMIM:301500
HP:0001711	Abnormal left ventricle morphology	3291	HSD11B2	ORPHA:320
HP:0001711	Abnormal left ventricle morphology	4015	LOX	OMIM:617168
HP:0001711	Abnormal left ventricle morphology	88	ACTN2	OMIM:612158
HP:0001711	Abnormal left ventricle morphology	27010	TPK1	OMIM:614458
HP:0001711	Abnormal left ventricle morphology	7092	TLL1	ORPHA:99106
HP:0001711	Abnormal left ventricle morphology	51241	COX16	OMIM:619355
HP:0001711	Abnormal left ventricle morphology	4878	NPPA	OMIM:612201
HP:0001711	Abnormal left ventricle morphology	29957	SLC25A24	OMIM:612289
HP:0001711	Abnormal left ventricle morphology	8557	TCAP	OMIM:607487
HP:0001711	Abnormal left ventricle morphology	3032	HADHB	ORPHA:746
HP:0001711	Abnormal left ventricle morphology	3030	HADHA	ORPHA:746
HP:0001711	Abnormal left ventricle morphology	9049	AIP	OMIM:102200
HP:0001711	Abnormal left ventricle morphology	9049	AIP	ORPHA:99725
HP:0001711	Abnormal left ventricle morphology	100147744	RNU7-1	OMIM:619487
HP:0001711	Abnormal left ventricle morphology	2548	GAA	ORPHA:308552
HP:0001711	Abnormal left ventricle morphology	10585	POMT1	ORPHA:86812
HP:0001711	Abnormal left ventricle morphology	10651	MTX2	OMIM:619127
HP:0001711	Abnormal left ventricle morphology	7276	TTR	ORPHA:85451
HP:0001711	Abnormal left ventricle morphology	7841	MOGS	ORPHA:79330
HP:0001711	Abnormal left ventricle morphology	4221	MEN1	ORPHA:99725
HP:0001711	Abnormal left ventricle morphology	11155	LDB3	OMIM:601493
HP:0001711	Abnormal left ventricle morphology	7139	TNNT2	OMIM:601494
HP:0001711	Abnormal left ventricle morphology	2273	FHL1	OMIM:300280
HP:0001711	Abnormal left ventricle morphology	57724	EPG5	OMIM:242840
HP:0001711	Abnormal left ventricle morphology	4841	NONO	ORPHA:466791
HP:0001711	Abnormal left ventricle morphology	55739	NAXD	OMIM:618321
HP:0001711	Abnormal left ventricle morphology	7137	TNNI3	OMIM:115210
HP:0001711	Abnormal left ventricle morphology	79147	FKRP	OMIM:613153
HP:0001711	Abnormal left ventricle morphology	29954	POMT2	OMIM:613156
HP:0001711	Abnormal left ventricle morphology	6389	SDHA	ORPHA:3208
HP:0001711	Abnormal left ventricle morphology	6390	SDHB	ORPHA:3208
HP:0001711	Abnormal left ventricle morphology	644096	SDHAF1	ORPHA:3208
HP:0001711	Abnormal left ventricle morphology	51778	MYOZ2	OMIM:613838
HP:0001711	Abnormal left ventricle morphology	9469	CHST3	OMIM:245600
HP:0001711	Abnormal left ventricle morphology	26229	B3GAT3	OMIM:245600
HP:0001711	Abnormal left ventricle morphology	57017	COQ9	OMIM:614654
HP:0001711	Abnormal left ventricle morphology	57592	ZNF687	OMIM:616833
HP:0001711	Abnormal left ventricle morphology	1756	DMD	ORPHA:206546
HP:0001711	Abnormal left ventricle morphology	3762	KCNJ5	ORPHA:251274
HP:0001711	Abnormal left ventricle morphology	58499	ZNF462	OMIM:618619
HP:0001711	Abnormal left ventricle morphology	84705	GTPBP3	ORPHA:444013
HP:0001711	Abnormal left ventricle morphology	10060	ABCC9	OMIM:239850
HP:0001711	Abnormal left ventricle morphology	79796	ALG9	ORPHA:79328
HP:0001711	Abnormal left ventricle morphology	4851	NOTCH1	ORPHA:402075
HP:0001711	Abnormal left ventricle morphology	140628	GATA5	ORPHA:402075
HP:0001711	Abnormal left ventricle morphology	4091	SMAD6	ORPHA:402075
HP:0001711	Abnormal left ventricle morphology	2627	GATA6	OMIM:600001
HP:0001711	Abnormal left ventricle morphology	2627	GATA6	ORPHA:2255
HP:0001711	Abnormal left ventricle morphology	70	ACTC1	OMIM:612098
HP:0001713	Abnormal cardiac ventricle morphology	8036	SHOC2	OMIM:607721
HP:0001713	Abnormal cardiac ventricle morphology	10617	STAMBP	OMIM:614261
HP:0001713	Abnormal cardiac ventricle morphology	6910	TBX5	ORPHA:392
HP:0001713	Abnormal cardiac ventricle morphology	6910	TBX5	OMIM:142900
HP:0001713	Abnormal cardiac ventricle morphology	28981	IFT81	OMIM:617895
HP:0001713	Abnormal cardiac ventricle morphology	8216	LZTR1	OMIM:616564
HP:0001713	Abnormal cardiac ventricle morphology	8216	LZTR1	OMIM:605275
HP:0001713	Abnormal cardiac ventricle morphology	776	CACNA1D	OMIM:615474
HP:0001713	Abnormal cardiac ventricle morphology	776	CACNA1D	ORPHA:369929
HP:0001713	Abnormal cardiac ventricle morphology	91754	NEK9	OMIM:614262
HP:0001713	Abnormal cardiac ventricle morphology	91754	NEK9	OMIM:617022
HP:0001713	Abnormal cardiac ventricle morphology	4750	NEK1	OMIM:263520
HP:0001713	Abnormal cardiac ventricle morphology	2132	EXT2	OMIM:616682
HP:0001713	Abnormal cardiac ventricle morphology	1024	CDK8	OMIM:618748
HP:0001713	Abnormal cardiac ventricle morphology	6659	SOX4	OMIM:618506
HP:0001713	Abnormal cardiac ventricle morphology	6659	SOX4	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	6016	RIT1	OMIM:615355
HP:0001713	Abnormal cardiac ventricle morphology	51126	NAA20	OMIM:619717
HP:0001713	Abnormal cardiac ventricle morphology	2972	BRF1	OMIM:616202
HP:0001713	Abnormal cardiac ventricle morphology	2972	BRF1	ORPHA:444072
HP:0001713	Abnormal cardiac ventricle morphology	81857	MED25	OMIM:616449
HP:0001713	Abnormal cardiac ventricle morphology	81857	MED25	ORPHA:464738
HP:0001713	Abnormal cardiac ventricle morphology	22800	RRAS2	OMIM:618624
HP:0001713	Abnormal cardiac ventricle morphology	91801	ALKBH8	OMIM:618504
HP:0001713	Abnormal cardiac ventricle morphology	1131	CHRM3	ORPHA:2970
HP:0001713	Abnormal cardiac ventricle morphology	55209	SETD5	ORPHA:404440
HP:0001713	Abnormal cardiac ventricle morphology	3190	HNRNPK	ORPHA:453504
HP:0001713	Abnormal cardiac ventricle morphology	3190	HNRNPK	ORPHA:352665
HP:0001713	Abnormal cardiac ventricle morphology	10743	RAI1	ORPHA:477817
HP:0001713	Abnormal cardiac ventricle morphology	197131	UBR1	OMIM:243800
HP:0001713	Abnormal cardiac ventricle morphology	55790	CSGALNACT1	OMIM:618870
HP:0001713	Abnormal cardiac ventricle morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001713	Abnormal cardiac ventricle morphology	79639	TMEM53	OMIM:619727
HP:0001713	Abnormal cardiac ventricle morphology	2201	FBN2	OMIM:121050
HP:0001713	Abnormal cardiac ventricle morphology	23384	SPECC1L	ORPHA:1519
HP:0001713	Abnormal cardiac ventricle morphology	23384	SPECC1L	OMIM:145420
HP:0001713	Abnormal cardiac ventricle morphology	7086	TKT	ORPHA:488618
HP:0001713	Abnormal cardiac ventricle morphology	7086	TKT	OMIM:617044
HP:0001713	Abnormal cardiac ventricle morphology	5189	PEX1	OMIM:214100
HP:0001713	Abnormal cardiac ventricle morphology	5189	PEX1	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	284058	KANSL1	ORPHA:363958
HP:0001713	Abnormal cardiac ventricle morphology	284058	KANSL1	OMIM:610443
HP:0001713	Abnormal cardiac ventricle morphology	284058	KANSL1	ORPHA:363965
HP:0001713	Abnormal cardiac ventricle morphology	9469	CHST3	OMIM:143095
HP:0001713	Abnormal cardiac ventricle morphology	7021	TFAP2B	ORPHA:46627
HP:0001713	Abnormal cardiac ventricle morphology	54567	DLL4	OMIM:616589
HP:0001713	Abnormal cardiac ventricle morphology	815	CAMK2A	OMIM:617798
HP:0001713	Abnormal cardiac ventricle morphology	4853	NOTCH2	OMIM:102500
HP:0001713	Abnormal cardiac ventricle morphology	4853	NOTCH2	ORPHA:955
HP:0001713	Abnormal cardiac ventricle morphology	7994	KAT6A	ORPHA:457193
HP:0001713	Abnormal cardiac ventricle morphology	7994	KAT6A	OMIM:616268
HP:0001713	Abnormal cardiac ventricle morphology	64359	NXN	ORPHA:1507
HP:0001713	Abnormal cardiac ventricle morphology	4920	ROR2	ORPHA:1507
HP:0001713	Abnormal cardiac ventricle morphology	4920	ROR2	OMIM:113000
HP:0001713	Abnormal cardiac ventricle morphology	2697	GJA1	ORPHA:2710
HP:0001713	Abnormal cardiac ventricle morphology	4313	MMP2	ORPHA:371428
HP:0001713	Abnormal cardiac ventricle morphology	4323	MMP14	ORPHA:371428
HP:0001713	Abnormal cardiac ventricle morphology	5566	PRKACA	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	5567	PRKACB	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	2735	GLI1	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	2121	EVC	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	51626	DYNC2LI1	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	132884	EVC2	ORPHA:289
HP:0001713	Abnormal cardiac ventricle morphology	6926	TBX3	OMIM:181450
HP:0001713	Abnormal cardiac ventricle morphology	6926	TBX3	ORPHA:3138
HP:0001713	Abnormal cardiac ventricle morphology	4763	NF1	ORPHA:363700
HP:0001713	Abnormal cardiac ventricle morphology	22884	WDR37	OMIM:618652
HP:0001713	Abnormal cardiac ventricle morphology	7386	UQCRFS1	OMIM:618775
HP:0001713	Abnormal cardiac ventricle morphology	23327	NEDD4L	OMIM:617201
HP:0001713	Abnormal cardiac ventricle morphology	168507	PKD1L1	OMIM:617205
HP:0001713	Abnormal cardiac ventricle morphology	93627	TBCK	ORPHA:488632
HP:0001713	Abnormal cardiac ventricle morphology	2783	GNB2	OMIM:619503
HP:0001713	Abnormal cardiac ventricle morphology	64132	XYLT2	ORPHA:85194
HP:0001713	Abnormal cardiac ventricle morphology	4247	MGAT2	OMIM:212066
HP:0001713	Abnormal cardiac ventricle morphology	4247	MGAT2	ORPHA:79329
HP:0001713	Abnormal cardiac ventricle morphology	81794	ADAMTS10	OMIM:277600
HP:0001713	Abnormal cardiac ventricle morphology	81794	ADAMTS10	ORPHA:3449
HP:0001713	Abnormal cardiac ventricle morphology	3476	IGBP1	ORPHA:52055
HP:0001713	Abnormal cardiac ventricle morphology	3476	IGBP1	OMIM:300472
HP:0001713	Abnormal cardiac ventricle morphology	8493	PPM1D	OMIM:617450
HP:0001713	Abnormal cardiac ventricle morphology	56006	SMG9	OMIM:619995
HP:0001713	Abnormal cardiac ventricle morphology	56006	SMG9	OMIM:616920
HP:0001713	Abnormal cardiac ventricle morphology	1349	COX7B	OMIM:309801
HP:0001713	Abnormal cardiac ventricle morphology	3052	HCCS	OMIM:309801
HP:0001713	Abnormal cardiac ventricle morphology	54539	NDUFB11	OMIM:309801
HP:0001713	Abnormal cardiac ventricle morphology	54914	FOCAD	OMIM:619991
HP:0001713	Abnormal cardiac ventricle morphology	51633	OTUD6B	OMIM:617452
HP:0001713	Abnormal cardiac ventricle morphology	51633	OTUD6B	ORPHA:505237
HP:0001713	Abnormal cardiac ventricle morphology	27125	AFF4	OMIM:616368
HP:0001713	Abnormal cardiac ventricle morphology	27125	AFF4	ORPHA:444077
HP:0001713	Abnormal cardiac ventricle morphology	5604	MAP2K1	OMIM:615279
HP:0001713	Abnormal cardiac ventricle morphology	5604	MAP2K1	OMIM:163950
HP:0001713	Abnormal cardiac ventricle morphology	150468	CKAP2L	OMIM:272440
HP:0001713	Abnormal cardiac ventricle morphology	150468	CKAP2L	ORPHA:3255
HP:0001713	Abnormal cardiac ventricle morphology	6899	TBX1	ORPHA:1727
HP:0001713	Abnormal cardiac ventricle morphology	6899	TBX1	OMIM:192430
HP:0001713	Abnormal cardiac ventricle morphology	6899	TBX1	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	6899	TBX1	OMIM:188400
HP:0001713	Abnormal cardiac ventricle morphology	6134	RPL10	ORPHA:459070
HP:0001713	Abnormal cardiac ventricle morphology	6134	RPL10	OMIM:300998
HP:0001713	Abnormal cardiac ventricle morphology	415	ARSL	ORPHA:79345
HP:0001713	Abnormal cardiac ventricle morphology	1859	DYRK1A	ORPHA:464311
HP:0001713	Abnormal cardiac ventricle morphology	1859	DYRK1A	ORPHA:268261
HP:0001713	Abnormal cardiac ventricle morphology	8314	BAP1	OMIM:619762
HP:0001713	Abnormal cardiac ventricle morphology	7750	ZMYM2	OMIM:619522
HP:0001713	Abnormal cardiac ventricle morphology	9158	FIBP	OMIM:617107
HP:0001713	Abnormal cardiac ventricle morphology	9158	FIBP	ORPHA:500095
HP:0001713	Abnormal cardiac ventricle morphology	200424	TET3	OMIM:618798
HP:0001713	Abnormal cardiac ventricle morphology	2542	SLC37A4	OMIM:619525
HP:0001713	Abnormal cardiac ventricle morphology	9772	TMEM94	OMIM:618316
HP:0001713	Abnormal cardiac ventricle morphology	9993	DGCR2	OMIM:192430
HP:0001713	Abnormal cardiac ventricle morphology	8220	ESS2	OMIM:192430
HP:0001713	Abnormal cardiac ventricle morphology	8214	DGCR6	OMIM:192430
HP:0001713	Abnormal cardiac ventricle morphology	54487	DGCR8	OMIM:192430
HP:0001713	Abnormal cardiac ventricle morphology	51341	ZBTB7A	OMIM:619769
HP:0001713	Abnormal cardiac ventricle morphology	79728	PALB2	OMIM:610832
HP:0001713	Abnormal cardiac ventricle morphology	9968	MED12	OMIM:301068
HP:0001713	Abnormal cardiac ventricle morphology	9968	MED12	OMIM:309520
HP:0001713	Abnormal cardiac ventricle morphology	4621	MYH3	OMIM:178110
HP:0001713	Abnormal cardiac ventricle morphology	775	CACNA1C	OMIM:601005
HP:0001713	Abnormal cardiac ventricle morphology	2239	GPC4	ORPHA:373
HP:0001713	Abnormal cardiac ventricle morphology	2239	GPC4	OMIM:312870
HP:0001713	Abnormal cardiac ventricle morphology	2719	GPC3	ORPHA:373
HP:0001713	Abnormal cardiac ventricle morphology	2719	GPC3	OMIM:312870
HP:0001713	Abnormal cardiac ventricle morphology	23007	PLCH1	OMIM:619895
HP:0001713	Abnormal cardiac ventricle morphology	79989	IFT56	OMIM:619534
HP:0001713	Abnormal cardiac ventricle morphology	23483	TGDS	OMIM:616145
HP:0001713	Abnormal cardiac ventricle morphology	23483	TGDS	ORPHA:1388
HP:0001713	Abnormal cardiac ventricle morphology	285203	EOGT	OMIM:615297
HP:0001713	Abnormal cardiac ventricle morphology	8565	YARS1	OMIM:619418
HP:0001713	Abnormal cardiac ventricle morphology	54916	TMEM260	OMIM:617478
HP:0001713	Abnormal cardiac ventricle morphology	25836	NIPBL	OMIM:122470
HP:0001713	Abnormal cardiac ventricle morphology	25836	NIPBL	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	23499	MACF1	OMIM:618325
HP:0001713	Abnormal cardiac ventricle morphology	3930	LBR	OMIM:169400
HP:0001713	Abnormal cardiac ventricle morphology	4087	SMAD2	OMIM:619657
HP:0001713	Abnormal cardiac ventricle morphology	404672	GTF2H5	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	833	CARS1	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	2068	ERCC2	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	7737	RNF113A	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	136647	MPLKIP	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	136647	MPLKIP	OMIM:234050
HP:0001713	Abnormal cardiac ventricle morphology	6897	TARS1	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	2071	ERCC3	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	2961	GTF2E2	ORPHA:33364
HP:0001713	Abnormal cardiac ventricle morphology	54361	WNT4	OMIM:611812
HP:0001713	Abnormal cardiac ventricle morphology	54361	WNT4	ORPHA:139466
HP:0001713	Abnormal cardiac ventricle morphology	286204	CRB2	OMIM:219730
HP:0001713	Abnormal cardiac ventricle morphology	9896	FIG4	OMIM:216340
HP:0001713	Abnormal cardiac ventricle morphology	9896	FIG4	ORPHA:3472
HP:0001713	Abnormal cardiac ventricle morphology	6135	RPL11	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6135	RPL11	OMIM:612562
HP:0001713	Abnormal cardiac ventricle morphology	6138	RPL15	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6138	RPL15	OMIM:615550
HP:0001713	Abnormal cardiac ventricle morphology	6229	RPS24	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6125	RPL5	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6125	RPL5	OMIM:612561
HP:0001713	Abnormal cardiac ventricle morphology	6204	RPS10	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6165	RPL35A	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6165	RPL35A	OMIM:612528
HP:0001713	Abnormal cardiac ventricle morphology	2623	GATA1	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	2623	GATA1	OMIM:190685
HP:0001713	Abnormal cardiac ventricle morphology	6223	RPS19	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6223	RPS19	OMIM:105650
HP:0001713	Abnormal cardiac ventricle morphology	6232	RPS27	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6231	RPS26	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6231	RPS26	OMIM:613309
HP:0001713	Abnormal cardiac ventricle morphology	11224	RPL35	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6160	RPL31	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6218	RPS17	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6201	RPS7	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6155	RPL27	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6154	RPL26	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6210	RPS15A	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	90121	TSR2	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6141	RPL18	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6235	RPS29	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6234	RPS28	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	51816	ADA2	ORPHA:124
HP:0001713	Abnormal cardiac ventricle morphology	6261	RYR1	OMIM:619542
HP:0001713	Abnormal cardiac ventricle morphology	8295	TRRAP	OMIM:618454
HP:0001713	Abnormal cardiac ventricle morphology	8621	CDK13	OMIM:617360
HP:0001713	Abnormal cardiac ventricle morphology	93233	ODAD1	OMIM:615067
HP:0001713	Abnormal cardiac ventricle morphology	1892	ECHS1	OMIM:616277
HP:0001713	Abnormal cardiac ventricle morphology	1892	ECHS1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	51117	COQ4	OMIM:616276
HP:0001713	Abnormal cardiac ventricle morphology	1523	CUX1	OMIM:618330
HP:0001713	Abnormal cardiac ventricle morphology	4212	MEIS2	ORPHA:261190
HP:0001713	Abnormal cardiac ventricle morphology	4212	MEIS2	OMIM:600987
HP:0001713	Abnormal cardiac ventricle morphology	115948	ODAD3	OMIM:616037
HP:0001713	Abnormal cardiac ventricle morphology	55770	EXOC2	OMIM:619306
HP:0001713	Abnormal cardiac ventricle morphology	6654	SOS1	OMIM:610733
HP:0001713	Abnormal cardiac ventricle morphology	6792	CDKL5	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	3736	KCNA1	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	9091	PIGQ	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	2775	GNAO1	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	81603	TRIM8	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	2902	GRIN1	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	79751	SLC25A22	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	150094	SIK1	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	8573	CASK	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	23312	DMXL2	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	2917	GRM7	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	170302	ARX	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	170302	ARX	ORPHA:452
HP:0001713	Abnormal cardiac ventricle morphology	11284	PNKP	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	6326	SCN2A	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	51227	PIGP	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	6324	SCN1B	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	4761	NEUROD2	ORPHA:1934
HP:0001713	Abnormal cardiac ventricle morphology	7080	NKX2-1	OMIM:610978
HP:0001713	Abnormal cardiac ventricle morphology	7080	NKX2-1	ORPHA:209905
HP:0001713	Abnormal cardiac ventricle morphology	2263	FGFR2	OMIM:101200
HP:0001713	Abnormal cardiac ventricle morphology	2737	GLI3	ORPHA:672
HP:0001713	Abnormal cardiac ventricle morphology	2737	GLI3	OMIM:146510
HP:0001713	Abnormal cardiac ventricle morphology	9361	LONP1	OMIM:600373
HP:0001713	Abnormal cardiac ventricle morphology	9361	LONP1	ORPHA:79243
HP:0001713	Abnormal cardiac ventricle morphology	9361	LONP1	ORPHA:1458
HP:0001713	Abnormal cardiac ventricle morphology	22827	PUF60	ORPHA:508498
HP:0001713	Abnormal cardiac ventricle morphology	22827	PUF60	ORPHA:508488
HP:0001713	Abnormal cardiac ventricle morphology	22827	PUF60	OMIM:615583
HP:0001713	Abnormal cardiac ventricle morphology	388015	RTL1	ORPHA:254534
HP:0001713	Abnormal cardiac ventricle morphology	388015	RTL1	ORPHA:96334
HP:0001713	Abnormal cardiac ventricle morphology	8788	DLK1	ORPHA:254534
HP:0001713	Abnormal cardiac ventricle morphology	8788	DLK1	ORPHA:96334
HP:0001713	Abnormal cardiac ventricle morphology	55384	MEG3	ORPHA:254534
HP:0001713	Abnormal cardiac ventricle morphology	55384	MEG3	ORPHA:96334
HP:0001713	Abnormal cardiac ventricle morphology	23013	SPEN	OMIM:619312
HP:0001713	Abnormal cardiac ventricle morphology	123606	NIPA1	ORPHA:261183
HP:0001713	Abnormal cardiac ventricle morphology	7283	TUBG1	ORPHA:261183
HP:0001713	Abnormal cardiac ventricle morphology	81614	NIPA2	ORPHA:261183
HP:0001713	Abnormal cardiac ventricle morphology	2187	FANCB	OMIM:300514
HP:0001713	Abnormal cardiac ventricle morphology	23314	SATB2	ORPHA:251028
HP:0001713	Abnormal cardiac ventricle morphology	57122	NUP107	OMIM:618348
HP:0001713	Abnormal cardiac ventricle morphology	57122	NUP107	OMIM:616730
HP:0001713	Abnormal cardiac ventricle morphology	55315	SLC29A3	OMIM:602782
HP:0001713	Abnormal cardiac ventricle morphology	55315	SLC29A3	ORPHA:1782
HP:0001713	Abnormal cardiac ventricle morphology	6299	SALL1	OMIM:107480
HP:0001713	Abnormal cardiac ventricle morphology	7490	WT1	ORPHA:3097
HP:0001713	Abnormal cardiac ventricle morphology	7490	WT1	OMIM:608978
HP:0001713	Abnormal cardiac ventricle morphology	1387	CREBBP	ORPHA:353281
HP:0001713	Abnormal cardiac ventricle morphology	1387	CREBBP	OMIM:180849
HP:0001713	Abnormal cardiac ventricle morphology	1387	CREBBP	ORPHA:353277
HP:0001713	Abnormal cardiac ventricle morphology	23395	LARS2	OMIM:617021
HP:0001713	Abnormal cardiac ventricle morphology	6651	SON	OMIM:617140
HP:0001713	Abnormal cardiac ventricle morphology	55215	FANCI	OMIM:609053
HP:0001713	Abnormal cardiac ventricle morphology	2033	EP300	ORPHA:353284
HP:0001713	Abnormal cardiac ventricle morphology	2033	EP300	OMIM:180849
HP:0001713	Abnormal cardiac ventricle morphology	4041	LRP5	OMIM:259770
HP:0001713	Abnormal cardiac ventricle morphology	9126	SMC3	OMIM:610759
HP:0001713	Abnormal cardiac ventricle morphology	9126	SMC3	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	79068	FTO	OMIM:612938
HP:0001713	Abnormal cardiac ventricle morphology	8626	TP63	OMIM:106260
HP:0001713	Abnormal cardiac ventricle morphology	473	RERE	ORPHA:494344
HP:0001713	Abnormal cardiac ventricle morphology	473	RERE	OMIM:616975
HP:0001713	Abnormal cardiac ventricle morphology	4784	NFIX	OMIM:602535
HP:0001713	Abnormal cardiac ventricle morphology	4784	NFIX	ORPHA:447980
HP:0001713	Abnormal cardiac ventricle morphology	57551	TAOK1	OMIM:619575
HP:0001713	Abnormal cardiac ventricle morphology	8260	NAA10	OMIM:300855
HP:0001713	Abnormal cardiac ventricle morphology	8260	NAA10	ORPHA:276432
HP:0001713	Abnormal cardiac ventricle morphology	10082	GPC6	OMIM:258315
HP:0001713	Abnormal cardiac ventricle morphology	1108	CHD4	OMIM:617159
HP:0001713	Abnormal cardiac ventricle morphology	23389	MED13L	ORPHA:369891
HP:0001713	Abnormal cardiac ventricle morphology	1312	COMT	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	221037	JMJD1C	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	2812	GP1BB	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	6239	RREB1	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	7290	HIRA	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	9632	SEC24C	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	7353	UFD1	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	421	ARVCF	ORPHA:567
HP:0001713	Abnormal cardiac ventricle morphology	3265	HRAS	ORPHA:3071
HP:0001713	Abnormal cardiac ventricle morphology	3265	HRAS	OMIM:218040
HP:0001713	Abnormal cardiac ventricle morphology	26276	VPS33B	OMIM:208085
HP:0001713	Abnormal cardiac ventricle morphology	10524	KAT5	OMIM:619103
HP:0001713	Abnormal cardiac ventricle morphology	372	ARCN1	OMIM:617164
HP:0001713	Abnormal cardiac ventricle morphology	1822	ATN1	OMIM:618494
HP:0001713	Abnormal cardiac ventricle morphology	4613	MYCN	OMIM:164280
HP:0001713	Abnormal cardiac ventricle morphology	6304	SATB1	OMIM:619229
HP:0001713	Abnormal cardiac ventricle morphology	4990	SIX6	OMIM:206900
HP:0001713	Abnormal cardiac ventricle morphology	6657	SOX2	OMIM:206900
HP:0001713	Abnormal cardiac ventricle morphology	6657	SOX2	ORPHA:77298
HP:0001713	Abnormal cardiac ventricle morphology	8883	NAE1	OMIM:620210
HP:0001713	Abnormal cardiac ventricle morphology	9343	EFTUD2	OMIM:610536
HP:0001713	Abnormal cardiac ventricle morphology	57003	CCDC47	OMIM:618268
HP:0001713	Abnormal cardiac ventricle morphology	5977	DPF2	OMIM:618027
HP:0001713	Abnormal cardiac ventricle morphology	5977	DPF2	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	57061	HYMAI	ORPHA:96191
HP:0001713	Abnormal cardiac ventricle morphology	5325	PLAGL1	ORPHA:96191
HP:0001713	Abnormal cardiac ventricle morphology	64840	PORCN	ORPHA:2092
HP:0001713	Abnormal cardiac ventricle morphology	348180	CTU2	OMIM:618142
HP:0001713	Abnormal cardiac ventricle morphology	340419	RSPO2	OMIM:618021
HP:0001713	Abnormal cardiac ventricle morphology	145173	B3GLCT	OMIM:261540
HP:0001713	Abnormal cardiac ventricle morphology	6711	SPTBN1	OMIM:619475
HP:0001713	Abnormal cardiac ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0001713	Abnormal cardiac ventricle morphology	26005	C2CD3	OMIM:615948
HP:0001713	Abnormal cardiac ventricle morphology	57514	ARHGAP31	OMIM:100300
HP:0001713	Abnormal cardiac ventricle morphology	10283	CWC27	OMIM:250410
HP:0001713	Abnormal cardiac ventricle morphology	10283	CWC27	ORPHA:166035
HP:0001713	Abnormal cardiac ventricle morphology	2006	ELN	OMIM:123700
HP:0001713	Abnormal cardiac ventricle morphology	2006	ELN	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	2006	ELN	OMIM:194050
HP:0001713	Abnormal cardiac ventricle morphology	7204	TRIO	OMIM:617061
HP:0001713	Abnormal cardiac ventricle morphology	285590	SH3PXD2B	OMIM:249420
HP:0001713	Abnormal cardiac ventricle morphology	374879	ZNF699	OMIM:619488
HP:0001713	Abnormal cardiac ventricle morphology	4841	NONO	OMIM:300967
HP:0001713	Abnormal cardiac ventricle morphology	4841	NONO	ORPHA:466791
HP:0001713	Abnormal cardiac ventricle morphology	51715	RAB23	OMIM:201000
HP:0001713	Abnormal cardiac ventricle morphology	8318	CDC45	OMIM:617063
HP:0001713	Abnormal cardiac ventricle morphology	29123	ANKRD11	ORPHA:261250
HP:0001713	Abnormal cardiac ventricle morphology	28952	CCDC22	OMIM:300963
HP:0001713	Abnormal cardiac ventricle morphology	28952	CCDC22	ORPHA:7
HP:0001713	Abnormal cardiac ventricle morphology	90416	CCDC32	OMIM:619123
HP:0001713	Abnormal cardiac ventricle morphology	118924	FRA10AC1	OMIM:620113
HP:0001713	Abnormal cardiac ventricle morphology	4222	MEOX1	OMIM:214300
HP:0001713	Abnormal cardiac ventricle morphology	4222	MEOX1	ORPHA:2345
HP:0001713	Abnormal cardiac ventricle morphology	407975	MIR17HG	ORPHA:391646
HP:0001713	Abnormal cardiac ventricle morphology	126792	B3GALT6	OMIM:271640
HP:0001713	Abnormal cardiac ventricle morphology	745	MYRF	OMIM:618280
HP:0001713	Abnormal cardiac ventricle morphology	10084	PQBP1	OMIM:309500
HP:0001713	Abnormal cardiac ventricle morphology	2176	FANCC	OMIM:227645
HP:0001713	Abnormal cardiac ventricle morphology	4256	MGP	OMIM:245150
HP:0001713	Abnormal cardiac ventricle morphology	4256	MGP	ORPHA:85202
HP:0001713	Abnormal cardiac ventricle morphology	5528	PPP2R5D	ORPHA:457279
HP:0001713	Abnormal cardiac ventricle morphology	9487	PIGL	OMIM:280000
HP:0001713	Abnormal cardiac ventricle morphology	9487	PIGL	ORPHA:3474
HP:0001713	Abnormal cardiac ventricle morphology	5236	PGM1	OMIM:614921
HP:0001713	Abnormal cardiac ventricle morphology	5297	PI4KA	ORPHA:436252
HP:0001713	Abnormal cardiac ventricle morphology	57217	TTC7A	ORPHA:436252
HP:0001713	Abnormal cardiac ventricle morphology	57217	TTC7A	OMIM:243150
HP:0001713	Abnormal cardiac ventricle morphology	3643	INSR	ORPHA:769
HP:0001713	Abnormal cardiac ventricle morphology	23522	KAT6B	ORPHA:3047
HP:0001713	Abnormal cardiac ventricle morphology	23522	KAT6B	OMIM:606170
HP:0001713	Abnormal cardiac ventricle morphology	219844	HYLS1	OMIM:236680
HP:0001713	Abnormal cardiac ventricle morphology	9897	WASHC5	ORPHA:7
HP:0001713	Abnormal cardiac ventricle morphology	9897	WASHC5	OMIM:220210
HP:0001713	Abnormal cardiac ventricle morphology	55181	SMG8	OMIM:619268
HP:0001713	Abnormal cardiac ventricle morphology	9652	SKIC3	ORPHA:84064
HP:0001713	Abnormal cardiac ventricle morphology	9652	SKIC3	OMIM:222470
HP:0001713	Abnormal cardiac ventricle morphology	6499	SKIC2	ORPHA:84064
HP:0001713	Abnormal cardiac ventricle morphology	26123	TCTN3	OMIM:614815
HP:0001713	Abnormal cardiac ventricle morphology	3480	IGF1R	OMIM:270450
HP:0001713	Abnormal cardiac ventricle morphology	8085	KMT2D	OMIM:147920
HP:0001713	Abnormal cardiac ventricle morphology	7403	KDM6A	OMIM:147920
HP:0001713	Abnormal cardiac ventricle morphology	2294	FOXF1	OMIM:265380
HP:0001713	Abnormal cardiac ventricle morphology	2294	FOXF1	ORPHA:210122
HP:0001713	Abnormal cardiac ventricle morphology	137814	NKX2-6	ORPHA:3384
HP:0001713	Abnormal cardiac ventricle morphology	23129	PLXND1	ORPHA:3384
HP:0001713	Abnormal cardiac ventricle morphology	10262	SF3B4	OMIM:154400
HP:0001713	Abnormal cardiac ventricle morphology	894	CCND2	ORPHA:83473
HP:0001713	Abnormal cardiac ventricle morphology	5296	PIK3R2	ORPHA:83473
HP:0001713	Abnormal cardiac ventricle morphology	5296	PIK3R2	OMIM:603387
HP:0001713	Abnormal cardiac ventricle morphology	10000	AKT3	ORPHA:83473
HP:0001713	Abnormal cardiac ventricle morphology	23241	PACS2	OMIM:618067
HP:0001713	Abnormal cardiac ventricle morphology	26128	KIFBP	OMIM:609460
HP:0001713	Abnormal cardiac ventricle morphology	83700	JAM3	OMIM:613730
HP:0001713	Abnormal cardiac ventricle morphology	8854	ALDH1A2	OMIM:620025
HP:0001713	Abnormal cardiac ventricle morphology	10992	SF3B2	OMIM:164210
HP:0001713	Abnormal cardiac ventricle morphology	8496	PPFIBP1	OMIM:620024
HP:0001713	Abnormal cardiac ventricle morphology	9839	ZEB2	OMIM:235730
HP:0001713	Abnormal cardiac ventricle morphology	9839	ZEB2	ORPHA:261552
HP:0001713	Abnormal cardiac ventricle morphology	64324	NSD1	ORPHA:821
HP:0001713	Abnormal cardiac ventricle morphology	64324	NSD1	OMIM:117550
HP:0001713	Abnormal cardiac ventricle morphology	29072	SETD2	ORPHA:821
HP:0001713	Abnormal cardiac ventricle morphology	10297	APC2	ORPHA:821
HP:0001713	Abnormal cardiac ventricle morphology	4281	MID1	OMIM:300000
HP:0001713	Abnormal cardiac ventricle morphology	4281	MID1	ORPHA:2745
HP:0001713	Abnormal cardiac ventricle morphology	80232	WDR26	ORPHA:513456
HP:0001713	Abnormal cardiac ventricle morphology	80232	WDR26	OMIM:617616
HP:0001713	Abnormal cardiac ventricle morphology	613	BCR	ORPHA:261330
HP:0001713	Abnormal cardiac ventricle morphology	1399	CRKL	ORPHA:261330
HP:0001713	Abnormal cardiac ventricle morphology	5594	MAPK1	ORPHA:261330
HP:0001713	Abnormal cardiac ventricle morphology	89910	UBE3B	OMIM:244450
HP:0001713	Abnormal cardiac ventricle morphology	55249	YY1AP1	ORPHA:79094
HP:0001713	Abnormal cardiac ventricle morphology	1717	DHCR7	ORPHA:818
HP:0001713	Abnormal cardiac ventricle morphology	1717	DHCR7	OMIM:270400
HP:0001713	Abnormal cardiac ventricle morphology	10225	CD96	OMIM:211750
HP:0001713	Abnormal cardiac ventricle morphology	57492	ARID1B	OMIM:135900
HP:0001713	Abnormal cardiac ventricle morphology	57492	ARID1B	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	5119	CHMP1A	OMIM:614961
HP:0001713	Abnormal cardiac ventricle morphology	1889	ECE1	OMIM:613870
HP:0001713	Abnormal cardiac ventricle morphology	93	ACVR2B	OMIM:613751
HP:0001713	Abnormal cardiac ventricle morphology	1801	DPH1	OMIM:616901
HP:0001713	Abnormal cardiac ventricle morphology	8772	FADD	OMIM:613759
HP:0001713	Abnormal cardiac ventricle morphology	8772	FADD	ORPHA:306550
HP:0001713	Abnormal cardiac ventricle morphology	6597	SMARCA4	OMIM:614609
HP:0001713	Abnormal cardiac ventricle morphology	6597	SMARCA4	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	55697	VAC14	ORPHA:3472
HP:0001713	Abnormal cardiac ventricle morphology	6885	MAP3K7	OMIM:157800
HP:0001713	Abnormal cardiac ventricle morphology	55148	UBR7	OMIM:619189
HP:0001713	Abnormal cardiac ventricle morphology	55636	CHD7	OMIM:214800
HP:0001713	Abnormal cardiac ventricle morphology	63894	VIPAS39	OMIM:613404
HP:0001713	Abnormal cardiac ventricle morphology	4036	LRP2	ORPHA:2143
HP:0001713	Abnormal cardiac ventricle morphology	4036	LRP2	OMIM:222448
HP:0001713	Abnormal cardiac ventricle morphology	53834	FGFRL1	OMIM:194190
HP:0001713	Abnormal cardiac ventricle morphology	1487	CTBP1	OMIM:194190
HP:0001713	Abnormal cardiac ventricle morphology	3954	LETM1	OMIM:194190
HP:0001713	Abnormal cardiac ventricle morphology	7468	NSD2	OMIM:194190
HP:0001713	Abnormal cardiac ventricle morphology	10815	CPLX1	OMIM:194190
HP:0001713	Abnormal cardiac ventricle morphology	26227	PHGDH	OMIM:256520
HP:0001713	Abnormal cardiac ventricle morphology	23118	TAB2	OMIM:614980
HP:0001713	Abnormal cardiac ventricle morphology	4519	MT-CYB	ORPHA:137675
HP:0001713	Abnormal cardiac ventricle morphology	5828	PEX2	OMIM:614866
HP:0001713	Abnormal cardiac ventricle morphology	5828	PEX2	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	6804	STX1A	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	7461	CLIP2	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	84277	DNAJC30	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	8468	FKBP6	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	5982	RFC2	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	2969	GTF2I	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	3984	LIMK1	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	9569	GTF2IRD1	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	155382	VPS37D	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	155368	METTL27	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	114049	BUD23	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	7458	EIF4H	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	84163	GTF2IRD2	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	9275	BCL7B	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	26608	TBL2	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	653361	NCF1	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	135886	TMEM270	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	51085	MLXIPL	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	51085	MLXIPL	OMIM:194050
HP:0001713	Abnormal cardiac ventricle morphology	9031	BAZ1B	ORPHA:904
HP:0001713	Abnormal cardiac ventricle morphology	83475	DOHH	OMIM:620066
HP:0001713	Abnormal cardiac ventricle morphology	55719	SLF2	OMIM:620184
HP:0001713	Abnormal cardiac ventricle morphology	10907	TXNL4A	OMIM:608572
HP:0001713	Abnormal cardiac ventricle morphology	6558	SLC12A2	OMIM:619083
HP:0001713	Abnormal cardiac ventricle morphology	10236	HNRNPR	OMIM:620073
HP:0001713	Abnormal cardiac ventricle morphology	2200	FBN1	OMIM:608328
HP:0001713	Abnormal cardiac ventricle morphology	2200	FBN1	ORPHA:3449
HP:0001713	Abnormal cardiac ventricle morphology	6628	SNRPB	ORPHA:1393
HP:0001713	Abnormal cardiac ventricle morphology	6628	SNRPB	OMIM:117650
HP:0001713	Abnormal cardiac ventricle morphology	4089	SMAD4	OMIM:139210
HP:0001713	Abnormal cardiac ventricle morphology	182	JAG1	OMIM:118450
HP:0001713	Abnormal cardiac ventricle morphology	182	JAG1	OMIM:617992
HP:0001713	Abnormal cardiac ventricle morphology	9409	PEX16	OMIM:614876
HP:0001713	Abnormal cardiac ventricle morphology	9409	PEX16	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	51244	CCDC174	OMIM:616816
HP:0001713	Abnormal cardiac ventricle morphology	2065	ERBB3	OMIM:607598
HP:0001713	Abnormal cardiac ventricle morphology	51322	WAC	ORPHA:284169
HP:0001713	Abnormal cardiac ventricle morphology	10324	KLHL41	OMIM:615731
HP:0001713	Abnormal cardiac ventricle morphology	4053	LTBP2	ORPHA:3449
HP:0001713	Abnormal cardiac ventricle morphology	80184	CEP290	OMIM:611134
HP:0001713	Abnormal cardiac ventricle morphology	140628	GATA5	OMIM:617912
HP:0001713	Abnormal cardiac ventricle morphology	8195	MKKS	ORPHA:2473
HP:0001713	Abnormal cardiac ventricle morphology	147372	CCBE1	OMIM:235510
HP:0001713	Abnormal cardiac ventricle morphology	4851	NOTCH1	OMIM:109730
HP:0001713	Abnormal cardiac ventricle morphology	157570	ESCO2	OMIM:268300
HP:0001713	Abnormal cardiac ventricle morphology	171023	ASXL1	OMIM:605039
HP:0001713	Abnormal cardiac ventricle morphology	2317	FLNB	OMIM:150250
HP:0001713	Abnormal cardiac ventricle morphology	79228	THOC6	OMIM:613680
HP:0001713	Abnormal cardiac ventricle morphology	2303	FOXC2	OMIM:153400
HP:0001713	Abnormal cardiac ventricle morphology	667	DST	OMIM:614653
HP:0001713	Abnormal cardiac ventricle morphology	9573	GDF3	ORPHA:2345
HP:0001713	Abnormal cardiac ventricle morphology	392255	GDF6	ORPHA:2345
HP:0001713	Abnormal cardiac ventricle morphology	55690	PACS1	ORPHA:329224
HP:0001713	Abnormal cardiac ventricle morphology	7319	UBE2A	ORPHA:163956
HP:0001713	Abnormal cardiac ventricle morphology	55112	DYNC2I1	OMIM:615503
HP:0001713	Abnormal cardiac ventricle morphology	63895	PIEZO2	ORPHA:2461
HP:0001713	Abnormal cardiac ventricle morphology	55670	PEX26	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5824	PEX19	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	8504	PEX3	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	8799	PEX11B	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5190	PEX6	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5830	PEX5	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5193	PEX12	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5194	PEX13	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5195	PEX14	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	5192	PEX10	ORPHA:912
HP:0001713	Abnormal cardiac ventricle morphology	6888	TALDO1	OMIM:606003
HP:0001713	Abnormal cardiac ventricle morphology	10735	STAG2	OMIM:301043
HP:0001713	Abnormal cardiac ventricle morphology	8243	SMC1A	OMIM:301044
HP:0001713	Abnormal cardiac ventricle morphology	8243	SMC1A	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	7026	NR2F2	OMIM:618901
HP:0001713	Abnormal cardiac ventricle morphology	7026	NR2F2	OMIM:615779
HP:0001713	Abnormal cardiac ventricle morphology	11020	IFT27	OMIM:615996
HP:0001713	Abnormal cardiac ventricle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001713	Abnormal cardiac ventricle morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001713	Abnormal cardiac ventricle morphology	5648	MASP1	OMIM:257920
HP:0001713	Abnormal cardiac ventricle morphology	26160	IFT172	OMIM:615630
HP:0001713	Abnormal cardiac ventricle morphology	1788	DNMT3A	OMIM:615879
HP:0001713	Abnormal cardiac ventricle morphology	65062	TMEM237	OMIM:614424
HP:0001713	Abnormal cardiac ventricle morphology	85358	SHANK3	OMIM:606232
HP:0001713	Abnormal cardiac ventricle morphology	546	ATRX	OMIM:301040
HP:0001713	Abnormal cardiac ventricle morphology	57167	SALL4	OMIM:607323
HP:0001713	Abnormal cardiac ventricle morphology	55593	OTUD5	OMIM:301056
HP:0001713	Abnormal cardiac ventricle morphology	1837	DTNA	OMIM:604169
HP:0001713	Abnormal cardiac ventricle morphology	57465	TBC1D24	OMIM:220500
HP:0001713	Abnormal cardiac ventricle morphology	4854	NOTCH3	OMIM:130720
HP:0001713	Abnormal cardiac ventricle morphology	4854	NOTCH3	ORPHA:2789
HP:0001713	Abnormal cardiac ventricle morphology	83479	DDX59	OMIM:174300
HP:0001713	Abnormal cardiac ventricle morphology	10560	SLC19A2	ORPHA:49827
HP:0001713	Abnormal cardiac ventricle morphology	10560	SLC19A2	OMIM:249270
HP:0001713	Abnormal cardiac ventricle morphology	5915	RARB	OMIM:615524
HP:0001713	Abnormal cardiac ventricle morphology	5053	PAH	ORPHA:2209
HP:0001713	Abnormal cardiac ventricle morphology	6598	SMARCB1	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	8289	ARID1A	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	6601	SMARCC2	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	6602	SMARCD1	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	196528	ARID2	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	6605	SMARCE1	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	6664	SOX11	ORPHA:1465
HP:0001713	Abnormal cardiac ventricle morphology	5160	PDHA1	ORPHA:79243
HP:0001713	Abnormal cardiac ventricle morphology	5160	PDHA1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	6606	SMN1	OMIM:253300
HP:0001713	Abnormal cardiac ventricle morphology	3209	HOXA13	ORPHA:2438
HP:0001713	Abnormal cardiac ventricle morphology	5422	POLA1	OMIM:301030
HP:0001713	Abnormal cardiac ventricle morphology	79576	NKAP	OMIM:301039
HP:0001713	Abnormal cardiac ventricle morphology	25	ABL1	OMIM:617602
HP:0001713	Abnormal cardiac ventricle morphology	57511	COG6	OMIM:614576
HP:0001713	Abnormal cardiac ventricle morphology	2260	FGFR1	OMIM:613001
HP:0001713	Abnormal cardiac ventricle morphology	2313	FLI1	ORPHA:2308
HP:0001713	Abnormal cardiac ventricle morphology	7074	TIAM1	OMIM:619908
HP:0001713	Abnormal cardiac ventricle morphology	59336	PRDM13	OMIM:619909
HP:0001713	Abnormal cardiac ventricle morphology	23476	BRD4	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	55869	HDAC8	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	5885	RAD21	ORPHA:199
HP:0001713	Abnormal cardiac ventricle morphology	157680	VPS13B	ORPHA:193
HP:0001713	Abnormal cardiac ventricle morphology	10367	MICU1	OMIM:615673
HP:0001713	Abnormal cardiac ventricle morphology	54880	BCOR	OMIM:300166
HP:0001713	Abnormal cardiac ventricle morphology	55617	TASP1	OMIM:618950
HP:0001713	Abnormal cardiac ventricle morphology	1857	DVL3	OMIM:616894
HP:0001713	Abnormal cardiac ventricle morphology	10293	TRAIP	OMIM:616777
HP:0001713	Abnormal cardiac ventricle morphology	9702	CEP57	OMIM:614114
HP:0001713	Abnormal cardiac ventricle morphology	202018	TAPT1	OMIM:616897
HP:0001713	Abnormal cardiac ventricle morphology	5500	PPP1CB	OMIM:617506
HP:0001713	Abnormal cardiac ventricle morphology	93649	MYOCD	OMIM:618719
HP:0001713	Abnormal cardiac ventricle morphology	139285	AMER1	OMIM:300373
HP:0001713	Abnormal cardiac ventricle morphology	6389	SDHA	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	80704	SLC19A3	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	91942	NDUFAF2	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	6834	SURF1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4723	NDUFV1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	55572	FOXRED1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4729	NDUFV2	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	55967	NDUFA12	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	51204	TACO1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4720	NDUFS2	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4724	NDUFS4	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4728	NDUFS8	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	137682	NDUFAF6	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4722	NDUFS3	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	79133	NDUFAF5	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	100131801	PET100	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	1355	COX15	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	51079	NDUFA13	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	374291	NDUFS7	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4705	NDUFA10	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	51601	LIPT1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4719	NDUFS1	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4695	NDUFA2	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4697	NDUFA4	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	4704	NDUFA9	ORPHA:255241
HP:0001713	Abnormal cardiac ventricle morphology	5879	RAC1	OMIM:617751
HP:0001713	Abnormal cardiac ventricle morphology	5879	RAC1	ORPHA:500159
HP:0001713	Abnormal cardiac ventricle morphology	10274	STAG1	OMIM:617635
HP:0001713	Abnormal cardiac ventricle morphology	51780	KDM3B	OMIM:618846
HP:0001713	Abnormal cardiac ventricle morphology	1663	DDX11	OMIM:613398
HP:0001713	Abnormal cardiac ventricle morphology	10312	TCIRG1	ORPHA:1782
HP:0001713	Abnormal cardiac ventricle morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001713	Abnormal cardiac ventricle morphology	5718	PSMD12	OMIM:617516
HP:0001713	Abnormal cardiac ventricle morphology	9439	MED23	OMIM:614249
HP:0001713	Abnormal cardiac ventricle morphology	9939	RBM8A	OMIM:274000
HP:0001713	Abnormal cardiac ventricle morphology	64131	XYLT1	ORPHA:1425
HP:0001713	Abnormal cardiac ventricle morphology	124583	CANT1	ORPHA:1425
HP:0001713	Abnormal cardiac ventricle morphology	37	ACADVL	ORPHA:26793
HP:0001713	Abnormal cardiac ventricle morphology	7043	TGFB3	OMIM:615582
HP:0001713	Abnormal cardiac ventricle morphology	7372	UMPS	OMIM:258900
HP:0001713	Abnormal cardiac ventricle morphology	84148	KAT8	OMIM:618974
HP:0001713	Abnormal cardiac ventricle morphology	6655	SOS2	OMIM:616559
HP:0001713	Abnormal cardiac ventricle morphology	58499	ZNF462	OMIM:618619
HP:0001713	Abnormal cardiac ventricle morphology	5781	PTPN11	OMIM:163950
HP:0001713	Abnormal cardiac ventricle morphology	673	BRAF	OMIM:163950
HP:0001713	Abnormal cardiac ventricle morphology	6720	SREBF1	OMIM:158310
HP:0001713	Abnormal cardiac ventricle morphology	2212	FCGR2A	OMIM:219700
HP:0001713	Abnormal cardiac ventricle morphology	7040	TGFB1	OMIM:219700
HP:0001713	Abnormal cardiac ventricle morphology	1080	CFTR	OMIM:219700
HP:0001713	Abnormal cardiac ventricle morphology	2316	FLNA	OMIM:305620
HP:0001713	Abnormal cardiac ventricle morphology	695	BTK	OMIM:300755
HP:0001713	Abnormal cardiac ventricle morphology	57190	SELENON	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	58	ACTA1	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	4633	MYL2	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	3679	ITGA7	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	7169	TPM2	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	9200	HACD1	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	7170	TPM3	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	51776	MAP3K20	ORPHA:2020
HP:0001713	Abnormal cardiac ventricle morphology	7273	TTN	ORPHA:324604
HP:0001713	Abnormal cardiac ventricle morphology	79572	ATP13A3	OMIM:265400
HP:0001713	Abnormal cardiac ventricle morphology	8425	LTBP4	OMIM:613177
HP:0001713	Abnormal cardiac ventricle morphology	6439	SFTPB	ORPHA:217563
HP:0001713	Abnormal cardiac ventricle morphology	8604	SLC25A12	OMIM:612949
HP:0001713	Abnormal cardiac ventricle morphology	8291	DYSF	ORPHA:268
HP:0001713	Abnormal cardiac ventricle morphology	27031	NPHP3	OMIM:267010
HP:0001713	Abnormal cardiac ventricle morphology	23556	PIGN	ORPHA:280633
HP:0001713	Abnormal cardiac ventricle morphology	659	BMPR2	OMIM:178600
HP:0001713	Abnormal cardiac ventricle morphology	8292	COLQ	ORPHA:98915
HP:0001713	Abnormal cardiac ventricle morphology	3913	LAMB2	ORPHA:98915
HP:0001713	Abnormal cardiac ventricle morphology	84705	GTPBP3	ORPHA:444013
HP:0001713	Abnormal cardiac ventricle morphology	9759	HDAC4	OMIM:600430
HP:0001713	Abnormal cardiac ventricle morphology	64135	IFIH1	OMIM:182250
HP:0001713	Abnormal cardiac ventricle morphology	9184	BUB3	ORPHA:1052
HP:0001713	Abnormal cardiac ventricle morphology	699	BUB1	ORPHA:1052
HP:0001713	Abnormal cardiac ventricle morphology	9319	TRIP13	ORPHA:1052
HP:0001713	Abnormal cardiac ventricle morphology	701	BUB1B	ORPHA:1052
HP:0001713	Abnormal cardiac ventricle morphology	859	CAV3	OMIM:192600
HP:0001713	Abnormal cardiac ventricle morphology	85366	MYLK2	OMIM:192600
HP:0001713	Abnormal cardiac ventricle morphology	127833	SYT2	OMIM:619461
HP:0001713	Abnormal cardiac ventricle morphology	171019	ADAMTS19	OMIM:620067
HP:0001713	Abnormal cardiac ventricle morphology	51057	WDPCP	OMIM:217085
HP:0001713	Abnormal cardiac ventricle morphology	51057	WDPCP	ORPHA:1338
HP:0001713	Abnormal cardiac ventricle morphology	4088	SMAD3	ORPHA:284984
HP:0001713	Abnormal cardiac ventricle morphology	4088	SMAD3	OMIM:613795
HP:0001713	Abnormal cardiac ventricle morphology	274	BIN1	ORPHA:169186
HP:0001713	Abnormal cardiac ventricle morphology	10290	SPEG	ORPHA:169186
HP:0001713	Abnormal cardiac ventricle morphology	291	SLC25A4	ORPHA:254892
HP:0001713	Abnormal cardiac ventricle morphology	291	SLC25A4	OMIM:615418
HP:0001713	Abnormal cardiac ventricle morphology	5428	POLG	ORPHA:254892
HP:0001713	Abnormal cardiac ventricle morphology	56652	TWNK	ORPHA:254892
HP:0001713	Abnormal cardiac ventricle morphology	11232	POLG2	ORPHA:254892
HP:0001713	Abnormal cardiac ventricle morphology	50484	RRM2B	ORPHA:254892
HP:0001713	Abnormal cardiac ventricle morphology	10128	LRPPRC	OMIM:220111
HP:0001713	Abnormal cardiac ventricle morphology	5663	PSEN1	OMIM:613694
HP:0001713	Abnormal cardiac ventricle morphology	5664	PSEN2	OMIM:613697
HP:0001713	Abnormal cardiac ventricle morphology	19	ABCA1	OMIM:205400
HP:0001713	Abnormal cardiac ventricle morphology	19	ABCA1	ORPHA:31150
HP:0001713	Abnormal cardiac ventricle morphology	57539	WDR35	OMIM:613610
HP:0001713	Abnormal cardiac ventricle morphology	2997	GYS1	OMIM:611556
HP:0001713	Abnormal cardiac ventricle morphology	51343	FZR1	OMIM:620145
HP:0001713	Abnormal cardiac ventricle morphology	10159	ATP6AP2	ORPHA:93952
HP:0001713	Abnormal cardiac ventricle morphology	6840	SVIL	OMIM:619040
HP:0001713	Abnormal cardiac ventricle morphology	10021	HCN4	OMIM:163800
HP:0001713	Abnormal cardiac ventricle morphology	51218	GLRX5	ORPHA:401866
HP:0001713	Abnormal cardiac ventricle morphology	6341	SCO1	OMIM:619048
HP:0001713	Abnormal cardiac ventricle morphology	1278	COL1A2	ORPHA:230851
HP:0001713	Abnormal cardiac ventricle morphology	83715	ESPN	OMIM:618632
HP:0001713	Abnormal cardiac ventricle morphology	6392	SDHD	OMIM:619167
HP:0001713	Abnormal cardiac ventricle morphology	6392	SDHD	ORPHA:3208
HP:0001713	Abnormal cardiac ventricle morphology	10229	COQ7	OMIM:616733
HP:0001713	Abnormal cardiac ventricle morphology	54931	TRMT10C	OMIM:616974
HP:0001713	Abnormal cardiac ventricle morphology	9382	COG1	OMIM:611209
HP:0001713	Abnormal cardiac ventricle morphology	6868	ADAM17	ORPHA:294023
HP:0001713	Abnormal cardiac ventricle morphology	1956	EGFR	ORPHA:294023
HP:0001713	Abnormal cardiac ventricle morphology	79158	GNPTAB	ORPHA:576
HP:0001713	Abnormal cardiac ventricle morphology	4512	MT-CO1	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4513	MT-CO2	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4514	MT-CO3	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4511	MT-TC	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4574	MT-TS1	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4575	MT-TS2	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4558	MT-TF	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4541	MT-ND6	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4567	MT-TL1	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4540	MT-ND5	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4566	MT-TK	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4535	MT-ND1	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4572	MT-TQ	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4577	MT-TV	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	4578	MT-TW	OMIM:540000
HP:0001713	Abnormal cardiac ventricle morphology	153642	ARSK	OMIM:619698
HP:0001713	Abnormal cardiac ventricle morphology	57158	JPH2	OMIM:613873
HP:0001713	Abnormal cardiac ventricle morphology	5350	PLN	OMIM:613874
HP:0001713	Abnormal cardiac ventricle morphology	84100	ARL6	OMIM:209900
HP:0001713	Abnormal cardiac ventricle morphology	79140	CCDC28B	OMIM:209900
HP:0001713	Abnormal cardiac ventricle morphology	582	BBS1	OMIM:209900
HP:0001713	Abnormal cardiac ventricle morphology	708	C1QBP	OMIM:617713
HP:0001713	Abnormal cardiac ventricle morphology	91624	NEXN	OMIM:613876
HP:0001713	Abnormal cardiac ventricle morphology	1201	CLN3	ORPHA:228346
HP:0001713	Abnormal cardiac ventricle morphology	4634	MYL3	OMIM:608751
HP:0001713	Abnormal cardiac ventricle morphology	3291	HSD11B2	ORPHA:320
HP:0001713	Abnormal cardiac ventricle morphology	4015	LOX	OMIM:617168
HP:0001713	Abnormal cardiac ventricle morphology	88	ACTN2	OMIM:612158
HP:0001713	Abnormal cardiac ventricle morphology	27010	TPK1	OMIM:614458
HP:0001713	Abnormal cardiac ventricle morphology	51241	COX16	OMIM:619355
HP:0001713	Abnormal cardiac ventricle morphology	29957	SLC25A24	OMIM:612289
HP:0001713	Abnormal cardiac ventricle morphology	8557	TCAP	OMIM:607487
HP:0001713	Abnormal cardiac ventricle morphology	3032	HADHB	ORPHA:746
HP:0001713	Abnormal cardiac ventricle morphology	3030	HADHA	ORPHA:746
HP:0001713	Abnormal cardiac ventricle morphology	9049	AIP	OMIM:102200
HP:0001713	Abnormal cardiac ventricle morphology	9049	AIP	ORPHA:99725
HP:0001713	Abnormal cardiac ventricle morphology	100147744	RNU7-1	OMIM:619487
HP:0001713	Abnormal cardiac ventricle morphology	2548	GAA	ORPHA:308552
HP:0001713	Abnormal cardiac ventricle morphology	10585	POMT1	ORPHA:86812
HP:0001713	Abnormal cardiac ventricle morphology	10651	MTX2	OMIM:619127
HP:0001713	Abnormal cardiac ventricle morphology	7276	TTR	ORPHA:85451
HP:0001713	Abnormal cardiac ventricle morphology	7841	MOGS	ORPHA:79330
HP:0001713	Abnormal cardiac ventricle morphology	4221	MEN1	ORPHA:99725
HP:0001713	Abnormal cardiac ventricle morphology	11155	LDB3	OMIM:601493
HP:0001713	Abnormal cardiac ventricle morphology	2273	FHL1	OMIM:300280
HP:0001713	Abnormal cardiac ventricle morphology	57724	EPG5	OMIM:242840
HP:0001713	Abnormal cardiac ventricle morphology	55739	NAXD	OMIM:618321
HP:0001713	Abnormal cardiac ventricle morphology	7137	TNNI3	OMIM:115210
HP:0001713	Abnormal cardiac ventricle morphology	79147	FKRP	OMIM:613153
HP:0001713	Abnormal cardiac ventricle morphology	29954	POMT2	OMIM:613156
HP:0001713	Abnormal cardiac ventricle morphology	6390	SDHB	ORPHA:3208
HP:0001713	Abnormal cardiac ventricle morphology	644096	SDHAF1	ORPHA:3208
HP:0001713	Abnormal cardiac ventricle morphology	51778	MYOZ2	OMIM:613838
HP:0001713	Abnormal cardiac ventricle morphology	26229	B3GAT3	OMIM:245600
HP:0001713	Abnormal cardiac ventricle morphology	57017	COQ9	OMIM:614654
HP:0001713	Abnormal cardiac ventricle morphology	57592	ZNF687	OMIM:616833
HP:0001713	Abnormal cardiac ventricle morphology	1756	DMD	ORPHA:206546
HP:0001713	Abnormal cardiac ventricle morphology	3762	KCNJ5	ORPHA:251274
HP:0001713	Abnormal cardiac ventricle morphology	1340	COX6B1	OMIM:619051
HP:0001713	Abnormal cardiac ventricle morphology	6444	SGCD	OMIM:601287
HP:0001713	Abnormal cardiac ventricle morphology	286053	NSMCE2	OMIM:617253
HP:0001713	Abnormal cardiac ventricle morphology	81031	SLC2A10	OMIM:208050
HP:0001713	Abnormal cardiac ventricle morphology	178	AGL	OMIM:232400
HP:0001713	Abnormal cardiac ventricle morphology	788	SLC25A20	OMIM:212138
HP:0001713	Abnormal cardiac ventricle morphology	1376	CPT2	ORPHA:228305
HP:0001713	Abnormal cardiac ventricle morphology	4000	LMNA	ORPHA:740
HP:0001713	Abnormal cardiac ventricle morphology	4000	LMNA	ORPHA:363618
HP:0001713	Abnormal cardiac ventricle morphology	10269	ZMPSTE24	ORPHA:740
HP:0001713	Abnormal cardiac ventricle morphology	374354	NHLRC2	OMIM:618278
HP:0001713	Abnormal cardiac ventricle morphology	64127	NOD2	OMIM:617321
HP:0001713	Abnormal cardiac ventricle morphology	83550	GPR101	OMIM:300942
HP:0001713	Abnormal cardiac ventricle morphology	7547	ZIC3	OMIM:306955
HP:0001713	Abnormal cardiac ventricle morphology	2657	GDF1	OMIM:208530
HP:0001713	Abnormal cardiac ventricle morphology	2657	GDF1	OMIM:613854
HP:0001713	Abnormal cardiac ventricle morphology	50814	NSDHL	OMIM:308050
HP:0001713	Abnormal cardiac ventricle morphology	100128908	CIROP	OMIM:619702
HP:0001713	Abnormal cardiac ventricle morphology	79770	TXNDC15	OMIM:619879
HP:0001713	Abnormal cardiac ventricle morphology	4838	NODAL	OMIM:270100
HP:0001713	Abnormal cardiac ventricle morphology	6496	SIX3	OMIM:157170
HP:0001713	Abnormal cardiac ventricle morphology	64220	STRA6	OMIM:601186
HP:0001713	Abnormal cardiac ventricle morphology	5337	PLD1	OMIM:212093
HP:0001713	Abnormal cardiac ventricle morphology	2627	GATA6	ORPHA:2255
HP:0001713	Abnormal cardiac ventricle morphology	118856	MMP21	OMIM:616749
HP:0001713	Abnormal cardiac ventricle morphology	10060	ABCC9	OMIM:239850
HP:0001713	Abnormal cardiac ventricle morphology	79796	ALG9	ORPHA:79328
HP:0001713	Abnormal cardiac ventricle morphology	7092	TLL1	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	7092	TLL1	ORPHA:99106
HP:0001713	Abnormal cardiac ventricle morphology	57057	TBX20	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	4624	MYH6	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	1482	NKX2-5	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	70	ACTC1	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	10370	CITED2	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	10370	CITED2	ORPHA:99105
HP:0001713	Abnormal cardiac ventricle morphology	2626	GATA4	ORPHA:99103
HP:0001713	Abnormal cardiac ventricle morphology	60684	TRAPPC11	ORPHA:369840
HP:0001713	Abnormal cardiac ventricle morphology	60684	TRAPPC11	ORPHA:369847
HP:0001713	Abnormal cardiac ventricle morphology	6331	SCN5A	OMIM:614022
HP:0001713	Abnormal cardiac ventricle morphology	10526	IPO8	OMIM:619472
HP:0001713	Abnormal cardiac ventricle morphology	96459	FNIP1	OMIM:619705
HP:0001713	Abnormal cardiac ventricle morphology	1000	CDH2	OMIM:618920
HP:0001713	Abnormal cardiac ventricle morphology	6445	SGCG	OMIM:253700
HP:0001713	Abnormal cardiac ventricle morphology	29119	CTNNA3	OMIM:615616
HP:0001713	Abnormal cardiac ventricle morphology	57538	ALPK3	OMIM:618052
HP:0001713	Abnormal cardiac ventricle morphology	5605	MAP2K2	OMIM:615280
HP:0001713	Abnormal cardiac ventricle morphology	221496	LEMD2	OMIM:619322
HP:0001713	Abnormal cardiac ventricle morphology	2992	GYG1	ORPHA:263297
HP:0001713	Abnormal cardiac ventricle morphology	4607	MYBPC3	OMIM:115197
HP:0001713	Abnormal cardiac ventricle morphology	2717	GLA	OMIM:301500
HP:0001713	Abnormal cardiac ventricle morphology	26580	BSCL2	OMIM:269700
HP:0001713	Abnormal cardiac ventricle morphology	84665	MYPN	OMIM:615248
HP:0001713	Abnormal cardiac ventricle morphology	8048	CSRP3	OMIM:612124
HP:0001713	Abnormal cardiac ventricle morphology	7139	TNNT2	OMIM:115195
HP:0001713	Abnormal cardiac ventricle morphology	123263	MTFMT	OMIM:614947
HP:0001713	Abnormal cardiac ventricle morphology	23345	SYNE1	OMIM:612998
HP:0001713	Abnormal cardiac ventricle morphology	5167	ENPP1	ORPHA:51608
HP:0001713	Abnormal cardiac ventricle morphology	368	ABCC6	ORPHA:51608
HP:0001713	Abnormal cardiac ventricle morphology	3949	LDLR	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	255738	PCSK9	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	26119	LDLRAP1	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	338	APOB	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	64240	ABCG5	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	64241	ABCG8	ORPHA:391665
HP:0001713	Abnormal cardiac ventricle morphology	10516	FBLN5	ORPHA:90348
HP:0001713	Abnormal cardiac ventricle morphology	10516	FBLN5	ORPHA:90349
HP:0001713	Abnormal cardiac ventricle morphology	5832	ALDH18A1	ORPHA:90348
HP:0001713	Abnormal cardiac ventricle morphology	4052	LTBP1	ORPHA:90349
HP:0001713	Abnormal cardiac ventricle morphology	30008	EFEMP2	ORPHA:90349
HP:0001713	Abnormal cardiac ventricle morphology	54820	NDE1	ORPHA:2177
HP:0001713	Abnormal cardiac ventricle morphology	4878	NPPA	OMIM:615745
HP:0001713	Abnormal cardiac ventricle morphology	29925	GMPPB	ORPHA:363623
HP:0001713	Abnormal cardiac ventricle morphology	4091	SMAD6	ORPHA:402075
HP:0001713	Abnormal cardiac ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0001713	Abnormal cardiac ventricle morphology	1802	DPH2	OMIM:620062
HP:0001713	Abnormal cardiac ventricle morphology	6123	RPL3L	OMIM:619371
HP:0001713	Abnormal cardiac ventricle morphology	5700	PSMC1	OMIM:620071
HP:0001713	Abnormal cardiac ventricle morphology	5515	PPP2CA	OMIM:618354
HP:0001713	Abnormal cardiac ventricle morphology	131118	DNAJC19	ORPHA:66634
HP:0001713	Abnormal cardiac ventricle morphology	23545	ATP6V0A2	OMIM:278250
HP:0001713	Abnormal cardiac ventricle morphology	51729	WBP11	OMIM:619227
HP:0001713	Abnormal cardiac ventricle morphology	439	GET3	OMIM:620203
HP:0001713	Abnormal cardiac ventricle morphology	374969	SVBP	OMIM:618569
HP:0001713	Abnormal cardiac ventricle morphology	51611	DPH5	OMIM:620070
HP:0001713	Abnormal cardiac ventricle morphology	1828	DSG1	OMIM:615508
HP:0001713	Abnormal cardiac ventricle morphology	79188	TMEM43	OMIM:604400
HP:0001713	Abnormal cardiac ventricle morphology	3728	JUP	OMIM:601214
HP:0001713	Abnormal cardiac ventricle morphology	3728	JUP	OMIM:611528
HP:0001713	Abnormal cardiac ventricle morphology	1829	DSG2	OMIM:610193
HP:0001713	Abnormal cardiac ventricle morphology	1824	DSC2	OMIM:610476
HP:0001713	Abnormal cardiac ventricle morphology	1832	DSP	OMIM:607450
HP:0001713	Abnormal cardiac ventricle morphology	3417	IDH1	ORPHA:99646
HP:0001713	Abnormal cardiac ventricle morphology	2271	FH	OMIM:606812
HP:0001713	Abnormal cardiac ventricle morphology	91949	COG7	OMIM:608779
HP:0001713	Abnormal cardiac ventricle morphology	4718	NDUFC2	OMIM:619170
HP:0001713	Abnormal cardiac ventricle morphology	808	CALM3	OMIM:618782
HP:0001713	Abnormal cardiac ventricle morphology	650	BMP2	OMIM:617877
HP:0001713	Abnormal cardiac ventricle morphology	23511	NUP188	OMIM:618804
HP:0001713	Abnormal cardiac ventricle morphology	1107	CHD3	OMIM:618205
HP:0001713	Abnormal cardiac ventricle morphology	22872	SEC31A	OMIM:618651
HP:0001713	Abnormal cardiac ventricle morphology	2702	GJA5	OMIM:612474
HP:0001713	Abnormal cardiac ventricle morphology	2703	GJA8	OMIM:612474
HP:0001713	Abnormal cardiac ventricle morphology	4625	MYH7	OMIM:613426
HP:0001713	Abnormal cardiac ventricle morphology	79053	ALG8	OMIM:608104
HP:0001713	Abnormal cardiac ventricle morphology	4713	NDUFB7	OMIM:620135
HP:0001713	Abnormal cardiac ventricle morphology	5318	PKP2	OMIM:609040
HP:0001713	Abnormal cardiac ventricle morphology	64218	SEMA4A	ORPHA:440437
HP:0001713	Abnormal cardiac ventricle morphology	657	BMPR1A	ORPHA:440437
HP:0001713	Abnormal cardiac ventricle morphology	6224	RPS20	ORPHA:440437
HP:0001713	Abnormal cardiac ventricle morphology	4072	EPCAM	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	4292	MLH1	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	5395	PMS2	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	27030	MLH3	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	22909	FAN1	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	7048	TGFBR2	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	3845	KRAS	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	5290	PIK3CA	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	2956	MSH6	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	5378	PMS1	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	4436	MSH2	ORPHA:144
HP:0001713	Abnormal cardiac ventricle morphology	51422	PRKAG2	OMIM:261740
HP:0001713	Abnormal cardiac ventricle morphology	126328	NDUFA11	OMIM:618236
HP:0001713	Abnormal cardiac ventricle morphology	50619	DEF6	OMIM:619573
HP:0001713	Abnormal cardiac ventricle morphology	7134	TNNC1	OMIM:613243
HP:0001713	Abnormal cardiac ventricle morphology	529	ATP6V1E1	OMIM:617402
HP:0001713	Abnormal cardiac ventricle morphology	79087	ALG12	ORPHA:79324
HP:0001716	Wolff-Parkinson-White syndrome	4512	MT-CO1	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4512	MT-CO1	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4513	MT-CO2	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4513	MT-CO2	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4514	MT-CO3	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4514	MT-CO3	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4519	MT-CYB	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4519	MT-CYB	ORPHA:137675
HP:0001716	Wolff-Parkinson-White syndrome	4511	MT-TC	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4574	MT-TS1	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4574	MT-TS1	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4575	MT-TS2	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4575	MT-TS2	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4558	MT-TF	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4558	MT-TF	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4541	MT-ND6	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4541	MT-ND6	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4567	MT-TL1	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4567	MT-TL1	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4540	MT-ND5	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4540	MT-ND5	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4566	MT-TK	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4535	MT-ND1	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4535	MT-ND1	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4572	MT-TQ	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4572	MT-TQ	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4577	MT-TV	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4578	MT-TW	OMIM:540000
HP:0001716	Wolff-Parkinson-White syndrome	4578	MT-TW	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4538	MT-ND4	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	4564	MT-TH	ORPHA:550
HP:0001716	Wolff-Parkinson-White syndrome	650	BMP2	ORPHA:261295
HP:0001716	Wolff-Parkinson-White syndrome	51103	NDUFAF1	OMIM:618234
HP:0001716	Wolff-Parkinson-White syndrome	478	ATP1A3	OMIM:601338
HP:0001716	Wolff-Parkinson-White syndrome	63931	MRPS14	OMIM:618378
HP:0001716	Wolff-Parkinson-White syndrome	3714	JAG2	OMIM:619566
HP:0001716	Wolff-Parkinson-White syndrome	3920	LAMP2	OMIM:300257
HP:0001716	Wolff-Parkinson-White syndrome	7137	TNNI3	OMIM:613690
HP:0001716	Wolff-Parkinson-White syndrome	51422	PRKAG2	OMIM:600858
HP:0001716	Wolff-Parkinson-White syndrome	51422	PRKAG2	OMIM:194200
HP:0001716	Wolff-Parkinson-White syndrome	7249	TSC2	OMIM:613254
HP:0001716	Wolff-Parkinson-White syndrome	3458	IFNG	OMIM:613254
HP:0001716	Wolff-Parkinson-White syndrome	96459	FNIP1	OMIM:619705
HP:0001716	Wolff-Parkinson-White syndrome	2548	GAA	OMIM:232300
HP:0001716	Wolff-Parkinson-White syndrome	7248	TSC1	OMIM:191100
HP:0001716	Wolff-Parkinson-White syndrome	123263	MTFMT	OMIM:614947
HP:0001716	Wolff-Parkinson-White syndrome	8557	TCAP	OMIM:607487
HP:0001716	Wolff-Parkinson-White syndrome	84705	GTPBP3	ORPHA:444013
HP:0001717	Coronary artery calcification	3081	HGD	ORPHA:56
HP:0001717	Coronary artery calcification	3081	HGD	OMIM:203500
HP:0001717	Coronary artery calcification	4907	NT5E	OMIM:211800
HP:0001717	Coronary artery calcification	4907	NT5E	ORPHA:289601
HP:0001717	Coronary artery calcification	368	ABCC6	OMIM:614473
HP:0001717	Coronary artery calcification	368	ABCC6	ORPHA:51608
HP:0001717	Coronary artery calcification	5167	ENPP1	ORPHA:51608
HP:0001717	Coronary artery calcification	5167	ENPP1	OMIM:208000
HP:0001719	Double outlet right ventricle	7547	ZIC3	OMIM:306955
HP:0001719	Double outlet right ventricle	9897	WASHC5	OMIM:220210
HP:0001719	Double outlet right ventricle	10735	STAG2	OMIM:301043
HP:0001719	Double outlet right ventricle	6909	TBX2	OMIM:618223
HP:0001719	Double outlet right ventricle	23007	PLCH1	OMIM:619895
HP:0001719	Double outlet right ventricle	10526	IPO8	OMIM:619472
HP:0001719	Double outlet right ventricle	84231	TRAF7	OMIM:618164
HP:0001719	Double outlet right ventricle	9487	PIGL	OMIM:280000
HP:0001719	Double outlet right ventricle	4087	SMAD2	OMIM:619657
HP:0001719	Double outlet right ventricle	140628	GATA5	OMIM:617912
HP:0001719	Double outlet right ventricle	5824	PEX19	OMIM:614886
HP:0001719	Double outlet right ventricle	55191	NADSYN1	OMIM:618845
HP:0001719	Double outlet right ventricle	2657	GDF1	OMIM:613854
HP:0001719	Double outlet right ventricle	4838	NODAL	OMIM:270100
HP:0001719	Double outlet right ventricle	526	ATP6V1B2	ORPHA:79500
HP:0001719	Double outlet right ventricle	57465	TBC1D24	ORPHA:79500
HP:0001719	Double outlet right ventricle	9451	EIF2AK3	ORPHA:1667
HP:0001719	Double outlet right ventricle	4851	NOTCH1	OMIM:109730
HP:0001719	Double outlet right ventricle	55593	OTUD5	OMIM:301056
HP:0001719	Double outlet right ventricle	4313	MMP2	ORPHA:371428
HP:0001719	Double outlet right ventricle	4323	MMP14	ORPHA:371428
HP:0001719	Double outlet right ventricle	25981	DNAH1	ORPHA:244
HP:0001719	Double outlet right ventricle	115948	ODAD3	ORPHA:244
HP:0001719	Double outlet right ventricle	54768	HYDIN	ORPHA:244
HP:0001719	Double outlet right ventricle	352909	DNAAF3	ORPHA:244
HP:0001719	Double outlet right ventricle	27148	STK36	ORPHA:244
HP:0001719	Double outlet right ventricle	51314	NME8	ORPHA:244
HP:0001719	Double outlet right ventricle	92749	DRC1	ORPHA:244
HP:0001719	Double outlet right ventricle	54970	TTC12	ORPHA:244
HP:0001719	Double outlet right ventricle	152110	NEK10	ORPHA:244
HP:0001719	Double outlet right ventricle	8481	OFD1	ORPHA:244
HP:0001719	Double outlet right ventricle	2302	FOXJ1	ORPHA:244
HP:0001719	Double outlet right ventricle	221421	RSPH9	ORPHA:244
HP:0001719	Double outlet right ventricle	85478	CCDC65	ORPHA:244
HP:0001719	Double outlet right ventricle	55036	CCDC40	ORPHA:244
HP:0001719	Double outlet right ventricle	51364	ZMYND10	ORPHA:244
HP:0001719	Double outlet right ventricle	64446	DNAI2	ORPHA:244
HP:0001719	Double outlet right ventricle	6674	SPAG1	ORPHA:244
HP:0001719	Double outlet right ventricle	83544	DNAL1	ORPHA:244
HP:0001719	Double outlet right ventricle	89765	RSPH1	ORPHA:244
HP:0001719	Double outlet right ventricle	83538	ODAD4	ORPHA:244
HP:0001719	Double outlet right ventricle	200373	CFAP221	ORPHA:244
HP:0001719	Double outlet right ventricle	374407	DNAJB13	ORPHA:244
HP:0001719	Double outlet right ventricle	55172	DNAAF2	ORPHA:244
HP:0001719	Double outlet right ventricle	161582	DNAAF4	ORPHA:244
HP:0001719	Double outlet right ventricle	2622	GAS8	ORPHA:244
HP:0001719	Double outlet right ventricle	23639	DNAAF11	ORPHA:244
HP:0001719	Double outlet right ventricle	27019	DNAI1	ORPHA:244
HP:0001719	Double outlet right ventricle	345895	RSPH4A	ORPHA:244
HP:0001719	Double outlet right ventricle	54919	DNAAF5	ORPHA:244
HP:0001719	Double outlet right ventricle	6103	RPGR	ORPHA:244
HP:0001719	Double outlet right ventricle	388389	CCDC103	ORPHA:244
HP:0001719	Double outlet right ventricle	93233	ODAD1	ORPHA:244
HP:0001719	Double outlet right ventricle	93233	ODAD1	OMIM:615067
HP:0001719	Double outlet right ventricle	55130	ODAD2	ORPHA:244
HP:0001719	Double outlet right ventricle	1767	DNAH5	ORPHA:244
HP:0001719	Double outlet right ventricle	83861	RSPH3	ORPHA:244
HP:0001719	Double outlet right ventricle	345643	MCIDAS	ORPHA:244
HP:0001719	Double outlet right ventricle	56683	CFAP298	ORPHA:244
HP:0001719	Double outlet right ventricle	79925	SPEF2	ORPHA:244
HP:0001719	Double outlet right ventricle	10309	CCNO	ORPHA:244
HP:0001719	Double outlet right ventricle	115399	LRRC56	ORPHA:244
HP:0001719	Double outlet right ventricle	115399	LRRC56	OMIM:618254
HP:0001719	Double outlet right ventricle	139212	DNAAF6	ORPHA:244
HP:0001719	Double outlet right ventricle	123872	DNAAF1	ORPHA:244
HP:0001719	Double outlet right ventricle	85016	CFAP300	ORPHA:244
HP:0001719	Double outlet right ventricle	339829	CCDC39	ORPHA:244
HP:0001719	Double outlet right ventricle	8701	DNAH11	ORPHA:244
HP:0001719	Double outlet right ventricle	1770	DNAH9	ORPHA:244
HP:0001719	Double outlet right ventricle	246176	GAS2L2	ORPHA:244
HP:0001719	Double outlet right ventricle	10743	RAI1	ORPHA:477817
HP:0001719	Double outlet right ventricle	54880	BCOR	OMIM:300166
HP:0001719	Double outlet right ventricle	285590	SH3PXD2B	OMIM:249420
HP:0001719	Double outlet right ventricle	2623	GATA1	OMIM:190685
HP:0001719	Double outlet right ventricle	168507	PKD1L1	OMIM:617205
HP:0001719	Double outlet right ventricle	220136	CFAP53	OMIM:614779
HP:0001719	Double outlet right ventricle	55636	CHD7	OMIM:214800
HP:0001719	Double outlet right ventricle	2783	GNB2	OMIM:619503
HP:0001719	Double outlet right ventricle	7319	UBE2A	ORPHA:163956
HP:0001719	Double outlet right ventricle	9772	TMEM94	OMIM:618316
HP:0001719	Double outlet right ventricle	100128908	CIROP	OMIM:619702
HP:0001719	Double outlet right ventricle	55997	CFC1	OMIM:605376
HP:0001719	Double outlet right ventricle	137814	NKX2-6	OMIM:217095
HP:0001719	Double outlet right ventricle	1482	NKX2-5	OMIM:217095
HP:0001719	Double outlet right ventricle	6899	TBX1	OMIM:217095
HP:0001719	Double outlet right ventricle	2627	GATA6	OMIM:217095
HP:0001719	Double outlet right ventricle	5053	PAH	ORPHA:2209
HP:0001719	Double outlet right ventricle	55784	MCTP2	ORPHA:1596
HP:0001719	Double outlet right ventricle	26191	PTPN22	ORPHA:397
HP:0001719	Double outlet right ventricle	3106	HLA-B	ORPHA:397
HP:0001719	Double outlet right ventricle	3123	HLA-DRB1	ORPHA:397
HP:0001719	Double outlet right ventricle	8974	P4HA2	ORPHA:397
HP:0011931	Abnormal cerebellar peduncle morphology	80184	CEP290	OMIM:610188
HP:0011931	Abnormal cerebellar peduncle morphology	1593	CYP27A1	ORPHA:909
HP:0011931	Abnormal cerebellar peduncle morphology	26278	SACS	ORPHA:98
HP:0011931	Abnormal cerebellar peduncle morphology	4001	LMNB1	ORPHA:99027
HP:0011931	Abnormal cerebellar peduncle morphology	2313	FLI1	ORPHA:370348
HP:0011931	Abnormal cerebellar peduncle morphology	54806	AHI1	OMIM:608629
HP:0011931	Abnormal cerebellar peduncle morphology	79848	CSPP1	ORPHA:397715
HP:0011931	Abnormal cerebellar peduncle morphology	79848	CSPP1	OMIM:615636
HP:0011931	Abnormal cerebellar peduncle morphology	9786	KIAA0586	ORPHA:397715
HP:0011931	Abnormal cerebellar peduncle morphology	403	ARL3	OMIM:618161
HP:0011931	Abnormal cerebellar peduncle morphology	284217	LAMA1	ORPHA:370022
HP:0011931	Abnormal cerebellar peduncle morphology	51259	TMEM216	OMIM:608091
HP:0011931	Abnormal cerebellar peduncle morphology	56623	INPP5E	OMIM:213300
HP:0011931	Abnormal cerebellar peduncle morphology	91147	TMEM67	OMIM:610688
HP:0011931	Abnormal cerebellar peduncle morphology	1182	CLCN3	OMIM:619512
HP:0011931	Abnormal cerebellar peduncle morphology	4867	NPHP1	OMIM:609583
HP:0011932	Abnormal superior cerebellar peduncle morphology	80184	CEP290	OMIM:610188
HP:0011932	Abnormal superior cerebellar peduncle morphology	2313	FLI1	ORPHA:370348
HP:0011932	Abnormal superior cerebellar peduncle morphology	54806	AHI1	OMIM:608629
HP:0011932	Abnormal superior cerebellar peduncle morphology	79848	CSPP1	ORPHA:397715
HP:0011932	Abnormal superior cerebellar peduncle morphology	79848	CSPP1	OMIM:615636
HP:0011932	Abnormal superior cerebellar peduncle morphology	9786	KIAA0586	ORPHA:397715
HP:0011932	Abnormal superior cerebellar peduncle morphology	403	ARL3	OMIM:618161
HP:0011932	Abnormal superior cerebellar peduncle morphology	284217	LAMA1	ORPHA:370022
HP:0011932	Abnormal superior cerebellar peduncle morphology	51259	TMEM216	OMIM:608091
HP:0011932	Abnormal superior cerebellar peduncle morphology	56623	INPP5E	OMIM:213300
HP:0011932	Abnormal superior cerebellar peduncle morphology	91147	TMEM67	OMIM:610688
HP:0011932	Abnormal superior cerebellar peduncle morphology	1182	CLCN3	OMIM:619512
HP:0011932	Abnormal superior cerebellar peduncle morphology	4867	NPHP1	OMIM:609583
HP:0011933	Elongated superior cerebellar peduncle	54806	AHI1	OMIM:608629
HP:0011933	Elongated superior cerebellar peduncle	79848	CSPP1	ORPHA:397715
HP:0011933	Elongated superior cerebellar peduncle	79848	CSPP1	OMIM:615636
HP:0011933	Elongated superior cerebellar peduncle	9786	KIAA0586	ORPHA:397715
HP:0011933	Elongated superior cerebellar peduncle	403	ARL3	OMIM:618161
HP:0011933	Elongated superior cerebellar peduncle	284217	LAMA1	ORPHA:370022
HP:0011933	Elongated superior cerebellar peduncle	51259	TMEM216	OMIM:608091
HP:0011933	Elongated superior cerebellar peduncle	56623	INPP5E	OMIM:213300
HP:0011933	Elongated superior cerebellar peduncle	91147	TMEM67	OMIM:610688
HP:0011933	Elongated superior cerebellar peduncle	1182	CLCN3	OMIM:619512
HP:0011933	Elongated superior cerebellar peduncle	4867	NPHP1	OMIM:609583
HP:0011934	Dilatation of mesenteric artery	2022	ENG	OMIM:187300
HP:0011934	Dilatation of mesenteric artery	7048	TGFBR2	OMIM:610168
HP:0011935	Decreased urinary urate	4860	PNP	ORPHA:760
HP:0011935	Decreased urinary urate	4337	MOCS1	OMIM:252150
HP:0011935	Decreased urinary urate	4338	MOCS2	OMIM:252160
HP:0011936	Decreased plasma total carnitine	1376	CPT2	OMIM:608836
HP:0011936	Decreased plasma total carnitine	1376	CPT2	ORPHA:228305
HP:0011936	Decreased plasma total carnitine	1376	CPT2	ORPHA:228308
HP:0011936	Decreased plasma total carnitine	4312	MMP1	ORPHA:79408
HP:0011936	Decreased plasma total carnitine	1294	COL7A1	ORPHA:79408
HP:0011936	Decreased plasma total carnitine	34	ACADM	ORPHA:42
HP:0011937	Hypoplastic fifth toenail	6597	SMARCA4	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6598	SMARCB1	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6659	SOX4	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	8289	ARID1A	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	5977	DPF2	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	5977	DPF2	OMIM:618027
HP:0011937	Hypoplastic fifth toenail	6601	SMARCC2	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6602	SMARCD1	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	57492	ARID1B	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	196528	ARID2	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6605	SMARCE1	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6664	SOX11	ORPHA:1465
HP:0011937	Hypoplastic fifth toenail	6664	SOX11	OMIM:615866
HP:0011937	Hypoplastic fifth toenail	6418	SET	OMIM:618106
HP:0011937	Hypoplastic fifth toenail	5528	PPP2R5D	ORPHA:457279
HP:0011937	Hypoplastic fifth toenail	3209	HOXA13	ORPHA:2438
HP:0011937	Hypoplastic fifth toenail	3852	KRT5	OMIM:131960
HP:0011939	3-4 finger cutaneous syndactyly	2737	GLI3	ORPHA:672
HP:0011939	3-4 finger cutaneous syndactyly	284252	KCTD1	OMIM:181270
HP:0011939	3-4 finger cutaneous syndactyly	8626	TP63	ORPHA:69085
HP:0011939	3-4 finger cutaneous syndactyly	8294	H4C9	OMIM:619951
HP:0011939	3-4 finger cutaneous syndactyly	7994	KAT6A	OMIM:616268
HP:0011939	3-4 finger cutaneous syndactyly	775	CACNA1C	OMIM:620029
HP:0011939	3-4 finger cutaneous syndactyly	2697	GJA1	OMIM:257850
HP:0001722	High-output congestive heart failure	2022	ENG	OMIM:187300
HP:0001722	High-output congestive heart failure	2050	EPHB4	ORPHA:137667
HP:0001722	High-output congestive heart failure	5921	RASA1	ORPHA:137667
HP:0001722	High-output congestive heart failure	5921	RASA1	ORPHA:90307
HP:0001722	High-output congestive heart failure	3043	HBB	ORPHA:231222
HP:0001722	High-output congestive heart failure	3043	HBB	ORPHA:231226
HP:0001722	High-output congestive heart failure	3043	HBB	ORPHA:231214
HP:0001722	High-output congestive heart failure	779	CACNA1S	ORPHA:423
HP:0001722	High-output congestive heart failure	6261	RYR1	ORPHA:423
HP:0004942	Aortic aneurysm	1161	ERCC8	ORPHA:90324
HP:0004942	Aortic aneurysm	2074	ERCC6	ORPHA:90324
HP:0004942	Aortic aneurysm	490	ATP2B1	OMIM:619910
HP:0004942	Aortic aneurysm	8854	ALDH1A2	OMIM:620025
HP:0004942	Aortic aneurysm	81031	SLC2A10	ORPHA:3342
HP:0004942	Aortic aneurysm	81031	SLC2A10	OMIM:208050
HP:0004942	Aortic aneurysm	1788	DNMT3A	ORPHA:404443
HP:0004942	Aortic aneurysm	27125	AFF4	ORPHA:444077
HP:0004942	Aortic aneurysm	23556	PIGN	ORPHA:280633
HP:0004942	Aortic aneurysm	1278	COL1A2	ORPHA:230851
HP:0004942	Aortic aneurysm	1289	COL5A1	OMIM:130000
HP:0004942	Aortic aneurysm	1289	COL5A1	ORPHA:287
HP:0004942	Aortic aneurysm	2201	FBN2	OMIM:121050
HP:0004942	Aortic aneurysm	30008	EFEMP2	OMIM:614437
HP:0004942	Aortic aneurysm	5500	PPP1CB	OMIM:617506
HP:0004942	Aortic aneurysm	51726	DNAJB11	ORPHA:730
HP:0004942	Aortic aneurysm	23193	GANAB	ORPHA:730
HP:0004942	Aortic aneurysm	5310	PKD1	ORPHA:730
HP:0004942	Aortic aneurysm	5311	PKD2	ORPHA:730
HP:0004942	Aortic aneurysm	29880	ALG5	ORPHA:730
HP:0004942	Aortic aneurysm	9742	IFT140	ORPHA:730
HP:0004942	Aortic aneurysm	79796	ALG9	ORPHA:730
HP:0004942	Aortic aneurysm	80114	BICC1	ORPHA:730
HP:0004942	Aortic aneurysm	3190	HNRNPK	OMIM:616580
HP:0004942	Aortic aneurysm	84665	MYPN	ORPHA:171881
HP:0004942	Aortic aneurysm	7169	TPM2	ORPHA:171881
HP:0004942	Aortic aneurysm	7170	TPM3	ORPHA:171881
HP:0004942	Aortic aneurysm	165	AEBP1	OMIM:618000
HP:0004942	Aortic aneurysm	165	AEBP1	ORPHA:536532
HP:0004942	Aortic aneurysm	284058	KANSL1	OMIM:610443
HP:0004942	Aortic aneurysm	5238	PGM3	OMIM:615816
HP:0004942	Aortic aneurysm	1277	COL1A1	ORPHA:287
HP:0004942	Aortic aneurysm	1290	COL5A2	ORPHA:287
HP:0004942	Aortic aneurysm	9469	CHST3	OMIM:245600
HP:0004942	Aortic aneurysm	26229	B3GAT3	OMIM:245600
HP:0004942	Aortic aneurysm	4883	NPR3	OMIM:619543
HP:0004942	Aortic aneurysm	79576	NKAP	OMIM:301039
HP:0004942	Aortic aneurysm	833	CARS1	OMIM:618891
HP:0004942	Aortic aneurysm	54538	ROBO4	OMIM:618496
HP:0004942	Aortic aneurysm	25	ABL1	OMIM:617602
HP:0004942	Aortic aneurysm	4281	MID1	ORPHA:2745
HP:0004942	Aortic aneurysm	23384	SPECC1L	OMIM:145420
HP:0004942	Aortic aneurysm	55901	THSD1	ORPHA:231160
HP:0004942	Aortic aneurysm	7049	TGFBR3	ORPHA:231160
HP:0004942	Aortic aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0004942	Aortic aneurysm	2022	ENG	ORPHA:231160
HP:0004942	Aortic aneurysm	375	ARF1	ORPHA:98892
HP:0004942	Aortic aneurysm	4131	MAP1B	ORPHA:98892
HP:0004942	Aortic aneurysm	23327	NEDD4L	ORPHA:98892
HP:0004942	Aortic aneurysm	160418	TMTC3	ORPHA:98892
HP:0004942	Aortic aneurysm	10564	ARFGEF2	ORPHA:98892
HP:0004942	Aortic aneurysm	55780	ERMARD	ORPHA:98892
HP:0004942	Aortic aneurysm	54453	RIN2	OMIM:613075
HP:0004942	Aortic aneurysm	54453	RIN2	ORPHA:217335
HP:0004942	Aortic aneurysm	23118	TAB2	OMIM:614980
HP:0004942	Aortic aneurysm	6711	SPTBN1	OMIM:619475
HP:0004942	Aortic aneurysm	29957	SLC25A24	OMIM:612289
HP:0004942	Aortic aneurysm	5832	ALDH18A1	ORPHA:90348
HP:0004942	Aortic aneurysm	3458	IFNG	ORPHA:805
HP:0004942	Aortic aneurysm	7248	TSC1	ORPHA:805
HP:0004942	Aortic aneurysm	7249	TSC2	ORPHA:805
HP:0004942	Aortic aneurysm	7139	TNNT2	OMIM:612422
HP:0004942	Aortic aneurysm	3081	HGD	OMIM:203500
HP:0004942	Aortic aneurysm	5728	PTEN	ORPHA:109
HP:0004942	Aortic aneurysm	4621	MYH3	ORPHA:2990
HP:0004942	Aortic aneurysm	1146	CHRNG	ORPHA:2990
HP:0004942	Aortic aneurysm	64127	NOD2	ORPHA:90340
HP:0004942	Aortic aneurysm	5351	PLOD1	ORPHA:1900
HP:0004942	Aortic aneurysm	64324	NSD1	ORPHA:821
HP:0004942	Aortic aneurysm	29072	SETD2	ORPHA:821
HP:0004942	Aortic aneurysm	10297	APC2	ORPHA:821
HP:0004942	Aortic aneurysm	51611	DPH5	OMIM:620070
HP:0004942	Aortic aneurysm	10743	RAI1	ORPHA:477817
HP:0004942	Aortic aneurysm	2317	FLNB	OMIM:150250
HP:0004942	Aortic aneurysm	4854	NOTCH3	OMIM:130720
HP:0004942	Aortic aneurysm	613	BCR	ORPHA:261330
HP:0004942	Aortic aneurysm	1399	CRKL	ORPHA:261330
HP:0004942	Aortic aneurysm	5594	MAPK1	ORPHA:261330
HP:0004942	Aortic aneurysm	10535	RNASEH2A	ORPHA:51
HP:0004942	Aortic aneurysm	84153	RNASEH2C	ORPHA:51
HP:0004942	Aortic aneurysm	25939	SAMHD1	ORPHA:51
HP:0004942	Aortic aneurysm	79621	RNASEH2B	ORPHA:51
HP:0004942	Aortic aneurysm	103	ADAR	ORPHA:51
HP:0004942	Aortic aneurysm	11277	TREX1	ORPHA:51
HP:0004942	Aortic aneurysm	100147744	RNU7-1	ORPHA:51
HP:0004942	Aortic aneurysm	134353	LSM11	ORPHA:51
HP:0004942	Aortic aneurysm	64135	IFIH1	ORPHA:51
HP:0004942	Aortic aneurysm	113246	C12orf57	OMIM:218340
HP:0004942	Aortic aneurysm	2200	FBN1	OMIM:154700
HP:0004942	Aortic aneurysm	2200	FBN1	ORPHA:284979
HP:0004942	Aortic aneurysm	10526	IPO8	OMIM:619472
HP:0004942	Aortic aneurysm	2332	FMR1	ORPHA:908
HP:0004942	Aortic aneurysm	4000	LMNA	ORPHA:1662
HP:0004942	Aortic aneurysm	10269	ZMPSTE24	ORPHA:1662
HP:0004942	Aortic aneurysm	7048	TGFBR2	OMIM:610168
HP:0004942	Aortic aneurysm	9968	MED12	OMIM:309520
HP:0004942	Aortic aneurysm	3593	IL12B	ORPHA:3287
HP:0004942	Aortic aneurysm	3106	HLA-B	ORPHA:3287
HP:0004942	Aortic aneurysm	6945	MLX	ORPHA:3287
HP:0004942	Aortic aneurysm	171019	ADAMTS19	OMIM:620067
HP:0004942	Aortic aneurysm	4838	NODAL	OMIM:270100
HP:0004942	Aortic aneurysm	10516	FBLN5	OMIM:219100
HP:0004942	Aortic aneurysm	2972	BRF1	ORPHA:444072
HP:0004942	Aortic aneurysm	1281	COL3A1	ORPHA:286
HP:0004942	Aortic aneurysm	633	BGN	OMIM:300989
HP:0004942	Aortic aneurysm	2702	GJA5	OMIM:612474
HP:0004942	Aortic aneurysm	2703	GJA8	OMIM:612474
HP:0004942	Aortic aneurysm	79875	THSD4	OMIM:619825
HP:0004942	Aortic aneurysm	523	ATP6V1A	OMIM:617403
HP:0004942	Aortic aneurysm	7042	TGFB2	OMIM:614816
HP:0004942	Aortic aneurysm	26191	PTPN22	ORPHA:397
HP:0004942	Aortic aneurysm	3123	HLA-DRB1	ORPHA:397
HP:0004942	Aortic aneurysm	8974	P4HA2	ORPHA:397
HP:0004942	Aortic aneurysm	5592	PRKG1	OMIM:615436
HP:0004942	Aortic aneurysm	5592	PRKG1	ORPHA:91387
HP:0004942	Aortic aneurysm	286053	NSMCE2	OMIM:617253
HP:0004942	Aortic aneurysm	7046	TGFBR1	ORPHA:91387
HP:0004942	Aortic aneurysm	7043	TGFB3	ORPHA:91387
HP:0004942	Aortic aneurysm	4089	SMAD4	ORPHA:91387
HP:0004942	Aortic aneurysm	2301	FOXE3	ORPHA:91387
HP:0004942	Aortic aneurysm	4144	MAT2A	ORPHA:91387
HP:0004942	Aortic aneurysm	23493	HEY2	ORPHA:91387
HP:0004942	Aortic aneurysm	4638	MYLK	ORPHA:91387
HP:0004942	Aortic aneurysm	3756	KCNH1	OMIM:135500
HP:0004942	Aortic aneurysm	6804	STX1A	ORPHA:904
HP:0004942	Aortic aneurysm	7461	CLIP2	ORPHA:904
HP:0004942	Aortic aneurysm	84277	DNAJC30	ORPHA:904
HP:0004942	Aortic aneurysm	8468	FKBP6	ORPHA:904
HP:0004942	Aortic aneurysm	5982	RFC2	ORPHA:904
HP:0004942	Aortic aneurysm	2969	GTF2I	ORPHA:904
HP:0004942	Aortic aneurysm	3984	LIMK1	ORPHA:904
HP:0004942	Aortic aneurysm	9569	GTF2IRD1	ORPHA:904
HP:0004942	Aortic aneurysm	155382	VPS37D	ORPHA:904
HP:0004942	Aortic aneurysm	155368	METTL27	ORPHA:904
HP:0004942	Aortic aneurysm	114049	BUD23	ORPHA:904
HP:0004942	Aortic aneurysm	7458	EIF4H	ORPHA:904
HP:0004942	Aortic aneurysm	84163	GTF2IRD2	ORPHA:904
HP:0004942	Aortic aneurysm	9275	BCL7B	ORPHA:904
HP:0004942	Aortic aneurysm	26608	TBL2	ORPHA:904
HP:0004942	Aortic aneurysm	653361	NCF1	ORPHA:904
HP:0004942	Aortic aneurysm	135886	TMEM270	ORPHA:904
HP:0004942	Aortic aneurysm	51085	MLXIPL	ORPHA:904
HP:0004942	Aortic aneurysm	9031	BAZ1B	ORPHA:904
HP:0004942	Aortic aneurysm	2006	ELN	ORPHA:904
HP:0004942	Aortic aneurysm	4851	NOTCH1	ORPHA:402075
HP:0004942	Aortic aneurysm	1482	NKX2-5	ORPHA:402075
HP:0004942	Aortic aneurysm	140628	GATA5	ORPHA:402075
HP:0004942	Aortic aneurysm	4091	SMAD6	ORPHA:402075
HP:0004942	Aortic aneurysm	5590	PRKCZ	ORPHA:1606
HP:0004942	Aortic aneurysm	2563	GABRD	ORPHA:1606
HP:0004942	Aortic aneurysm	23013	SPEN	ORPHA:1606
HP:0004942	Aortic aneurysm	8510	MMP23B	ORPHA:1606
HP:0004942	Aortic aneurysm	7798	LUZP1	ORPHA:1606
HP:0004942	Aortic aneurysm	6497	SKI	ORPHA:1606
HP:0004942	Aortic aneurysm	10630	PDPN	ORPHA:1606
HP:0004942	Aortic aneurysm	3339	HSPG2	ORPHA:1606
HP:0004942	Aortic aneurysm	10277	UBE4B	ORPHA:1606
HP:0004942	Aortic aneurysm	8514	KCNAB2	ORPHA:1606
HP:0004942	Aortic aneurysm	473	RERE	ORPHA:1606
HP:0004942	Aortic aneurysm	63976	PRDM16	ORPHA:1606
HP:0004942	Aortic aneurysm	54897	CASZ1	ORPHA:1606
HP:0004942	Aortic aneurysm	55636	CHD7	ORPHA:138
HP:0004942	Aortic aneurysm	9723	SEMA3E	ORPHA:138
HP:0004942	Aortic aneurysm	2316	FLNA	OMIM:304120
HP:0004942	Aortic aneurysm	126792	B3GALT6	ORPHA:536467
HP:0004942	Aortic aneurysm	4629	MYH11	OMIM:619351
HP:0004942	Aortic aneurysm	4629	MYH11	OMIM:132900
HP:0004942	Aortic aneurysm	4015	LOX	OMIM:617168
HP:0004942	Aortic aneurysm	8076	MFAP5	OMIM:616166
HP:0004942	Aortic aneurysm	4088	SMAD3	OMIM:613795
HP:0004942	Aortic aneurysm	4087	SMAD2	OMIM:619656
HP:0004942	Aortic aneurysm	4087	SMAD2	OMIM:619657
HP:0004942	Aortic aneurysm	59	ACTA2	OMIM:613834
HP:0004942	Aortic aneurysm	59	ACTA2	OMIM:611788
HP:0001727	Thromboembolic stroke	4524	MTHFR	ORPHA:395
HP:0001727	Thromboembolic stroke	3784	KCNQ1	OMIM:607554
HP:0001727	Thromboembolic stroke	51816	ADA2	ORPHA:820
HP:0011940	Anterior wedging of T12	633	BGN	OMIM:300106
HP:0011940	Anterior wedging of T12	2176	FANCC	OMIM:227645
HP:0011942	Increased urinary sulfite	4337	MOCS1	OMIM:252150
HP:0011942	Increased urinary sulfite	4338	MOCS2	OMIM:252160
HP:0011942	Increased urinary sulfite	6821	SUOX	OMIM:272300
HP:0011943	Increased urinary thiosulfate	4337	MOCS1	OMIM:252150
HP:0011944	Small vessel vasculitis	7454	WAS	OMIM:301000
HP:0011944	Small vessel vasculitis	4210	MEFV	ORPHA:3243
HP:0011944	Small vessel vasculitis	4210	MEFV	OMIM:608068
HP:0011944	Small vessel vasculitis	1776	DNASE1L3	ORPHA:36412
HP:0011945	Bronchiolitis obliterans organizing pneumonia	5294	PIK3CG	OMIM:619802
HP:0011945	Bronchiolitis obliterans organizing pneumonia	9094	UNC119	OMIM:615518
HP:0011946	Bronchiolitis obliterans	695	BTK	OMIM:300755
HP:0011946	Bronchiolitis obliterans	56160	NSMCE3	OMIM:617241
HP:0011947	Respiratory tract infection	411	ARSB	OMIM:253200
HP:0011947	Respiratory tract infection	3909	LAMA3	ORPHA:79404
HP:0011947	Respiratory tract infection	3918	LAMC2	ORPHA:79404
HP:0011947	Respiratory tract infection	3914	LAMB3	ORPHA:79404
HP:0011947	Respiratory tract infection	10559	SLC35A1	ORPHA:238459
HP:0011947	Respiratory tract infection	4125	MAN2B1	ORPHA:309282
HP:0011947	Respiratory tract infection	4125	MAN2B1	ORPHA:309288
HP:0011947	Respiratory tract infection	3459	IFNGR1	OMIM:209950
HP:0011947	Respiratory tract infection	134218	DNAJC21	ORPHA:811
HP:0011947	Respiratory tract infection	79631	EFL1	ORPHA:811
HP:0011947	Respiratory tract infection	51119	SBDS	ORPHA:811
HP:0011947	Respiratory tract infection	2188	FANCF	OMIM:603467
HP:0011947	Respiratory tract infection	54	ACP5	OMIM:607944
HP:0011947	Respiratory tract infection	54	ACP5	ORPHA:1855
HP:0011947	Respiratory tract infection	3394	IRF8	OMIM:226990
HP:0011947	Respiratory tract infection	6445	SGCG	OMIM:253700
HP:0011947	Respiratory tract infection	8456	FOXN1	OMIM:618806
HP:0011947	Respiratory tract infection	4534	MTM1	ORPHA:596
HP:0011947	Respiratory tract infection	1789	DNMT3B	OMIM:242860
HP:0011947	Respiratory tract infection	7092	TLL1	ORPHA:99103
HP:0011947	Respiratory tract infection	57057	TBX20	ORPHA:99103
HP:0011947	Respiratory tract infection	4624	MYH6	ORPHA:99103
HP:0011947	Respiratory tract infection	1482	NKX2-5	ORPHA:99103
HP:0011947	Respiratory tract infection	70	ACTC1	ORPHA:99103
HP:0011947	Respiratory tract infection	10370	CITED2	ORPHA:99103
HP:0011947	Respiratory tract infection	2626	GATA4	ORPHA:99103
HP:0011947	Respiratory tract infection	2627	GATA6	ORPHA:99103
HP:0011947	Respiratory tract infection	28962	OSTM1	ORPHA:85179
HP:0011947	Respiratory tract infection	54914	FOCAD	OMIM:619991
HP:0011947	Respiratory tract infection	9841	ZBTB24	OMIM:614069
HP:0011947	Respiratory tract infection	6023	RMRP	ORPHA:39041
HP:0011947	Respiratory tract infection	55636	CHD7	ORPHA:39041
HP:0011947	Respiratory tract infection	3981	LIG4	ORPHA:39041
HP:0011947	Respiratory tract infection	11128	POLR3A	OMIM:264090
HP:0011947	Respiratory tract infection	374879	ZNF699	OMIM:619488
HP:0011947	Respiratory tract infection	629	CFB	OMIM:615561
HP:0011947	Respiratory tract infection	2215	FCGR3B	ORPHA:464370
HP:0011947	Respiratory tract infection	775	CACNA1C	OMIM:601005
HP:0011947	Respiratory tract infection	5966	REL	OMIM:619652
HP:0011947	Respiratory tract infection	50943	FOXP3	ORPHA:37042
HP:0011947	Respiratory tract infection	25836	NIPBL	OMIM:122470
HP:0011947	Respiratory tract infection	84433	CARD11	OMIM:617638
HP:0011947	Respiratory tract infection	6261	RYR1	ORPHA:98905
HP:0011947	Respiratory tract infection	3594	IL12RB1	ORPHA:319552
HP:0011947	Respiratory tract infection	5903	RANBP2	OMIM:608033
HP:0011947	Respiratory tract infection	37	ACADVL	ORPHA:26793
HP:0011947	Respiratory tract infection	6850	SYK	OMIM:619381
HP:0011947	Respiratory tract infection	11277	TREX1	ORPHA:247691
HP:0011947	Respiratory tract infection	80199	FUZ	ORPHA:1136
HP:0011947	Respiratory tract infection	4054	LTBP3	OMIM:617809
HP:0011947	Respiratory tract infection	3476	IGBP1	OMIM:300472
HP:0011947	Respiratory tract infection	79848	CSPP1	ORPHA:397715
HP:0011947	Respiratory tract infection	9786	KIAA0586	ORPHA:397715
HP:0011947	Respiratory tract infection	4914	NTRK1	ORPHA:642
HP:0011947	Respiratory tract infection	4784	NFIX	OMIM:602535
HP:0011947	Respiratory tract infection	427	ASAH1	ORPHA:2590
HP:0011947	Respiratory tract infection	23556	PIGN	ORPHA:280633
HP:0011947	Respiratory tract infection	2629	GBA1	OMIM:230900
HP:0011947	Respiratory tract infection	535	ATP6V0A1	OMIM:619971
HP:0011947	Respiratory tract infection	4281	MID1	ORPHA:2745
HP:0011947	Respiratory tract infection	29957	SLC25A24	OMIM:612289
HP:0011947	Respiratory tract infection	7994	KAT6A	OMIM:616268
HP:0011947	Respiratory tract infection	9361	LONP1	ORPHA:79243
HP:0011947	Respiratory tract infection	5160	PDHA1	ORPHA:79243
HP:0011947	Respiratory tract infection	3431	SP110	ORPHA:79124
HP:0011947	Respiratory tract infection	378884	NHLRC1	ORPHA:501
HP:0011947	Respiratory tract infection	7957	EPM2A	ORPHA:501
HP:0011947	Respiratory tract infection	3119	HLA-DQB1	ORPHA:930
HP:0011947	Respiratory tract infection	9244	CRLF1	ORPHA:930
HP:0011947	Respiratory tract infection	3117	HLA-DQA1	ORPHA:930
HP:0011947	Respiratory tract infection	4842	NOS1	ORPHA:930
HP:0011947	Respiratory tract infection	5293	PIK3CD	ORPHA:221139
HP:0011947	Respiratory tract infection	90417	KNSTRN	ORPHA:221139
HP:0011947	Respiratory tract infection	10755	GIPC1	ORPHA:98897
HP:0011947	Respiratory tract infection	100996717	NOTCH2NLC	ORPHA:98897
HP:0011947	Respiratory tract infection	8085	KMT2D	OMIM:147920
HP:0011947	Respiratory tract infection	7403	KDM6A	OMIM:147920
HP:0011947	Respiratory tract infection	8367	H4C5	OMIM:619950
HP:0011947	Respiratory tract infection	5393	EXOSC9	OMIM:618065
HP:0011947	Respiratory tract infection	5631	PRPS1	ORPHA:411543
HP:0011947	Respiratory tract infection	10054	UBA2	OMIM:619959
HP:0011947	Respiratory tract infection	7360	UGP2	OMIM:618744
HP:0011947	Respiratory tract infection	128178	EDARADD	OMIM:614941
HP:0011947	Respiratory tract infection	1131	CHRM3	ORPHA:2970
HP:0011947	Respiratory tract infection	5354	PLP1	ORPHA:99015
HP:0011947	Respiratory tract infection	249	ALPL	OMIM:241500
HP:0011947	Respiratory tract infection	613	BCR	ORPHA:261330
HP:0011947	Respiratory tract infection	1399	CRKL	ORPHA:261330
HP:0011947	Respiratory tract infection	5594	MAPK1	ORPHA:261330
HP:0011947	Respiratory tract infection	51506	UFC1	OMIM:618076
HP:0011947	Respiratory tract infection	283489	CHAMP1	OMIM:616579
HP:0011947	Respiratory tract infection	25782	RAB3GAP2	OMIM:212720
HP:0011947	Respiratory tract infection	5818	NECTIN1	ORPHA:3253
HP:0011947	Respiratory tract infection	55768	NGLY1	ORPHA:404454
HP:0011947	Respiratory tract infection	55768	NGLY1	OMIM:615273
HP:0011947	Respiratory tract infection	51360	MBTPS2	ORPHA:2273
HP:0011947	Respiratory tract infection	6772	STAT1	OMIM:614162
HP:0011947	Respiratory tract infection	284058	KANSL1	ORPHA:363958
HP:0011947	Respiratory tract infection	284058	KANSL1	ORPHA:363965
HP:0011947	Respiratory tract infection	9326	ZNHIT3	ORPHA:2836
HP:0011947	Respiratory tract infection	547	KIF1A	ORPHA:2836
HP:0011947	Respiratory tract infection	340061	STING1	OMIM:615934
HP:0011947	Respiratory tract infection	64359	NXN	ORPHA:1507
HP:0011947	Respiratory tract infection	4920	ROR2	ORPHA:1507
HP:0011947	Respiratory tract infection	1130	LYST	ORPHA:167
HP:0011947	Respiratory tract infection	1130	LYST	ORPHA:352723
HP:0011947	Respiratory tract infection	100303755	PET117	OMIM:619063
HP:0011947	Respiratory tract infection	171023	ASXL1	ORPHA:97297
HP:0011947	Respiratory tract infection	10815	CPLX1	ORPHA:280
HP:0011947	Respiratory tract infection	54872	PIGG	ORPHA:280
HP:0011947	Respiratory tract infection	7469	NELFA	ORPHA:280
HP:0011947	Respiratory tract infection	1487	CTBP1	ORPHA:280
HP:0011947	Respiratory tract infection	3954	LETM1	ORPHA:280
HP:0011947	Respiratory tract infection	7468	NSD2	ORPHA:280
HP:0011947	Respiratory tract infection	28755	TRAC	OMIM:615387
HP:0011947	Respiratory tract infection	79813	EHMT1	OMIM:610253
HP:0011947	Respiratory tract infection	3070	HELLS	ORPHA:2268
HP:0011947	Respiratory tract infection	83879	CDCA7	ORPHA:2268
HP:0011947	Respiratory tract infection	2752	GLUL	OMIM:610015
HP:0011947	Respiratory tract infection	3425	IDUA	OMIM:607014
HP:0011947	Respiratory tract infection	3425	IDUA	OMIM:607015
HP:0011947	Respiratory tract infection	3425	IDUA	ORPHA:93473
HP:0011947	Respiratory tract infection	175	AGA	ORPHA:93
HP:0011947	Respiratory tract infection	175	AGA	OMIM:208400
HP:0011947	Respiratory tract infection	4853	NOTCH2	ORPHA:955
HP:0011947	Respiratory tract infection	113278	SLC52A3	OMIM:211530
HP:0011947	Respiratory tract infection	330	BIRC3	ORPHA:52417
HP:0011947	Respiratory tract infection	27086	FOXP1	ORPHA:52417
HP:0011947	Respiratory tract infection	3492	IGH	ORPHA:52417
HP:0011947	Respiratory tract infection	8915	BCL10	ORPHA:52417
HP:0011947	Respiratory tract infection	10043	TOM1	OMIM:619510
HP:0011947	Respiratory tract infection	57217	TTC7A	OMIM:243150
HP:0011947	Respiratory tract infection	55773	TBC1D23	OMIM:617695
HP:0011947	Respiratory tract infection	9508	ADAMTS3	ORPHA:2136
HP:0011947	Respiratory tract infection	147372	CCBE1	ORPHA:2136
HP:0011947	Respiratory tract infection	79633	FAT4	ORPHA:2136
HP:0011947	Respiratory tract infection	6804	STX1A	ORPHA:904
HP:0011947	Respiratory tract infection	6804	STX1A	ORPHA:586
HP:0011947	Respiratory tract infection	7461	CLIP2	ORPHA:904
HP:0011947	Respiratory tract infection	84277	DNAJC30	ORPHA:904
HP:0011947	Respiratory tract infection	8468	FKBP6	ORPHA:904
HP:0011947	Respiratory tract infection	5982	RFC2	ORPHA:904
HP:0011947	Respiratory tract infection	2969	GTF2I	ORPHA:904
HP:0011947	Respiratory tract infection	3984	LIMK1	ORPHA:904
HP:0011947	Respiratory tract infection	9569	GTF2IRD1	ORPHA:904
HP:0011947	Respiratory tract infection	155382	VPS37D	ORPHA:904
HP:0011947	Respiratory tract infection	155368	METTL27	ORPHA:904
HP:0011947	Respiratory tract infection	114049	BUD23	ORPHA:904
HP:0011947	Respiratory tract infection	7458	EIF4H	ORPHA:904
HP:0011947	Respiratory tract infection	84163	GTF2IRD2	ORPHA:904
HP:0011947	Respiratory tract infection	9275	BCL7B	ORPHA:904
HP:0011947	Respiratory tract infection	26608	TBL2	ORPHA:904
HP:0011947	Respiratory tract infection	135886	TMEM270	ORPHA:904
HP:0011947	Respiratory tract infection	51085	MLXIPL	ORPHA:904
HP:0011947	Respiratory tract infection	9031	BAZ1B	ORPHA:904
HP:0011947	Respiratory tract infection	7456	WIPF1	ORPHA:906
HP:0011947	Respiratory tract infection	8364	H4C3	OMIM:619758
HP:0011947	Respiratory tract infection	3115	HLA-DPB1	ORPHA:900
HP:0011947	Respiratory tract infection	5657	PRTN3	ORPHA:900
HP:0011947	Respiratory tract infection	3113	HLA-DPA1	ORPHA:900
HP:0011947	Respiratory tract infection	3675	ITGA3	OMIM:614748
HP:0011947	Respiratory tract infection	415	ARSL	ORPHA:79345
HP:0011947	Respiratory tract infection	6609	SMPD1	OMIM:257200
HP:0011947	Respiratory tract infection	6609	SMPD1	OMIM:607616
HP:0011947	Respiratory tract infection	2624	GATA2	ORPHA:3226
HP:0011947	Respiratory tract infection	2990	GUSB	ORPHA:584
HP:0011947	Respiratory tract infection	2947	GSTM3	ORPHA:586
HP:0011947	Respiratory tract infection	2729	GCLC	ORPHA:586
HP:0011947	Respiratory tract infection	1084	CEACAM3	ORPHA:586
HP:0011947	Respiratory tract infection	6556	SLC11A1	ORPHA:586
HP:0011947	Respiratory tract infection	51164	DCTN4	ORPHA:586
HP:0011947	Respiratory tract infection	3783	KCNN4	ORPHA:586
HP:0011947	Respiratory tract infection	4282	MIF	ORPHA:586
HP:0011947	Respiratory tract infection	1909	EDNRA	ORPHA:586
HP:0011947	Respiratory tract infection	6550	SLC9A3	ORPHA:586
HP:0011947	Respiratory tract infection	3162	HMOX1	ORPHA:586
HP:0011947	Respiratory tract infection	115019	SLC26A9	ORPHA:586
HP:0011947	Respiratory tract infection	3077	HFE	ORPHA:586
HP:0011947	Respiratory tract infection	11254	SLC6A14	ORPHA:586
HP:0011947	Respiratory tract infection	5265	SERPINA1	ORPHA:586
HP:0011947	Respiratory tract infection	22802	CLCA4	ORPHA:586
HP:0011947	Respiratory tract infection	4680	CEACAM6	ORPHA:586
HP:0011947	Respiratory tract infection	4644	MYO5A	ORPHA:33445
HP:0011947	Respiratory tract infection	9321	TRIP11	OMIM:184260
HP:0011947	Respiratory tract infection	2316	FLNA	ORPHA:2484
HP:0011947	Respiratory tract infection	2316	FLNA	OMIM:309350
HP:0011947	Respiratory tract infection	9772	TMEM94	OMIM:618316
HP:0011947	Respiratory tract infection	917	CD3G	OMIM:615607
HP:0011947	Respiratory tract infection	9338	TCEAL1	OMIM:301094
HP:0011947	Respiratory tract infection	26154	ABCA12	ORPHA:457
HP:0011947	Respiratory tract infection	26154	ABCA12	ORPHA:313
HP:0011947	Respiratory tract infection	6638	SNRPN	ORPHA:98754
HP:0011947	Respiratory tract infection	6638	SNRPN	ORPHA:177904
HP:0011947	Respiratory tract infection	6638	SNRPN	ORPHA:177901
HP:0011947	Respiratory tract infection	6638	SNRPN	ORPHA:177907
HP:0011947	Respiratory tract infection	4692	NDN	ORPHA:98754
HP:0011947	Respiratory tract infection	4692	NDN	ORPHA:177904
HP:0011947	Respiratory tract infection	4692	NDN	ORPHA:177901
HP:0011947	Respiratory tract infection	54551	MAGEL2	ORPHA:98754
HP:0011947	Respiratory tract infection	54551	MAGEL2	OMIM:176270
HP:0011947	Respiratory tract infection	54551	MAGEL2	ORPHA:177904
HP:0011947	Respiratory tract infection	54551	MAGEL2	ORPHA:177901
HP:0011947	Respiratory tract infection	54551	MAGEL2	ORPHA:398069
HP:0011947	Respiratory tract infection	4948	OCA2	ORPHA:98754
HP:0011947	Respiratory tract infection	4948	OCA2	ORPHA:177904
HP:0011947	Respiratory tract infection	4948	OCA2	ORPHA:177901
HP:0011947	Respiratory tract infection	145873	MESP2	OMIM:608681
HP:0011947	Respiratory tract infection	145873	MESP2	OMIM:277300
HP:0011947	Respiratory tract infection	57724	EPG5	OMIM:242840
HP:0011947	Respiratory tract infection	57724	EPG5	ORPHA:1493
HP:0011947	Respiratory tract infection	8242	KDM5C	OMIM:300534
HP:0011947	Respiratory tract infection	197258	FCSK	OMIM:618324
HP:0011947	Respiratory tract infection	84522	JAGN1	OMIM:616022
HP:0011947	Respiratory tract infection	23219	FBXO28	OMIM:619777
HP:0011947	Respiratory tract infection	51322	WAC	ORPHA:466950
HP:0011947	Respiratory tract infection	6509	SLC1A4	ORPHA:447997
HP:0011947	Respiratory tract infection	2000	ELF4	OMIM:301074
HP:0011947	Respiratory tract infection	9742	IFT140	OMIM:266920
HP:0011947	Respiratory tract infection	7227	TRPS1	OMIM:190350
HP:0011947	Respiratory tract infection	51053	GMNN	OMIM:616835
HP:0011947	Respiratory tract infection	7319	UBE2A	ORPHA:163956
HP:0011947	Respiratory tract infection	5062	PAK2	OMIM:618458
HP:0011947	Respiratory tract infection	1828	DSG1	OMIM:615508
HP:0011947	Respiratory tract infection	79751	SLC25A22	ORPHA:1935
HP:0011947	Respiratory tract infection	150094	SIK1	ORPHA:1935
HP:0011947	Respiratory tract infection	3559	IL2RA	OMIM:606367
HP:0011947	Respiratory tract infection	5830	PEX5	OMIM:616716
HP:0011947	Respiratory tract infection	219285	SAMD9L	ORPHA:2585
HP:0011947	Respiratory tract infection	204	AK2	ORPHA:33355
HP:0011947	Respiratory tract infection	4126	MANBA	ORPHA:118
HP:0011947	Respiratory tract infection	56262	LRRC8A	ORPHA:33110
HP:0011947	Respiratory tract infection	89891	DYNC2I2	OMIM:615633
HP:0011947	Respiratory tract infection	23394	ADNP	OMIM:615873
HP:0011947	Respiratory tract infection	8818	DPM2	ORPHA:329178
HP:0011947	Respiratory tract infection	8737	RIPK1	OMIM:618108
HP:0011947	Respiratory tract infection	4173	MCM4	OMIM:609981
HP:0011947	Respiratory tract infection	113235	SLC46A1	ORPHA:90045
HP:0011947	Respiratory tract infection	7681	MKRN3	OMIM:176270
HP:0011947	Respiratory tract infection	3653	IPW	OMIM:176270
HP:0011947	Respiratory tract infection	791114	PWRN1	OMIM:176270
HP:0011947	Respiratory tract infection	100033413	SNORD116-1	OMIM:176270
HP:0011947	Respiratory tract infection	8924	HERC2	OMIM:176270
HP:0011947	Respiratory tract infection	145624	PWAR1	OMIM:176270
HP:0011947	Respiratory tract infection	23742	NPAP1	OMIM:176270
HP:0011947	Respiratory tract infection	338433	SNORD115-1	OMIM:176270
HP:0011947	Respiratory tract infection	1186	CLCN7	ORPHA:667
HP:0011947	Respiratory tract infection	29887	SNX10	ORPHA:667
HP:0011947	Respiratory tract infection	8600	TNFSF11	ORPHA:667
HP:0011947	Respiratory tract infection	7372	UMPS	ORPHA:30
HP:0011947	Respiratory tract infection	57511	COG6	ORPHA:363523
HP:0011947	Respiratory tract infection	23114	NFASC	OMIM:618356
HP:0011947	Respiratory tract infection	4792	NFKBIA	OMIM:612132
HP:0011947	Respiratory tract infection	6606	SMN1	OMIM:253550
HP:0011947	Respiratory tract infection	6606	SMN1	OMIM:253300
HP:0011947	Respiratory tract infection	6905	TBCE	ORPHA:2323
HP:0011947	Respiratory tract infection	83479	DDX59	OMIM:174300
HP:0011947	Respiratory tract infection	6492	SIM1	ORPHA:398079
HP:0011947	Respiratory tract infection	5660	PSAP	ORPHA:139406
HP:0011947	Respiratory tract infection	59067	IL21	OMIM:615767
HP:0011947	Respiratory tract infection	10683	DLL3	OMIM:277300
HP:0011947	Respiratory tract infection	4952	OCRL	ORPHA:534
HP:0011947	Respiratory tract infection	10320	IKZF1	ORPHA:36426
HP:0011947	Respiratory tract infection	57551	TAOK1	OMIM:619575
HP:0011947	Respiratory tract infection	4621	MYH3	OMIM:193700
HP:0011947	Respiratory tract infection	6335	SCN9A	ORPHA:90026
HP:0011947	Respiratory tract infection	11280	SCN11A	ORPHA:90026
HP:0011947	Respiratory tract infection	6336	SCN10A	ORPHA:90026
HP:0011947	Respiratory tract infection	55764	IFT122	OMIM:218330
HP:0011947	Respiratory tract infection	7703	PCGF2	OMIM:618371
HP:0011947	Respiratory tract infection	774	CACNA1B	OMIM:618497
HP:0011947	Respiratory tract infection	4478	MSN	OMIM:300988
HP:0011947	Respiratory tract infection	7161	TP73	OMIM:619466
HP:0011947	Respiratory tract infection	254428	SLC41A1	OMIM:619468
HP:0011947	Respiratory tract infection	51300	TIMMDC1	OMIM:618251
HP:0011947	Respiratory tract infection	8802	SUCLG1	ORPHA:17
HP:0011947	Respiratory tract infection	3560	IL2RB	OMIM:618495
HP:0011947	Respiratory tract infection	84818	IL17RC	ORPHA:1334
HP:0011947	Respiratory tract infection	64581	CLEC7A	ORPHA:1334
HP:0011947	Respiratory tract infection	10758	TRAF3IP2	ORPHA:1334
HP:0011947	Respiratory tract infection	112744	IL17F	ORPHA:1334
HP:0011947	Respiratory tract infection	860	RUNX2	ORPHA:1452
HP:0011947	Respiratory tract infection	25839	COG4	OMIM:613489
HP:0011947	Respiratory tract infection	8883	NAE1	OMIM:620210
HP:0011947	Respiratory tract infection	2313	FLI1	ORPHA:2308
HP:0011947	Respiratory tract infection	151516	ASPRV1	ORPHA:313
HP:0011947	Respiratory tract infection	242	ALOX12B	ORPHA:313
HP:0011947	Respiratory tract infection	126410	CYP4F22	ORPHA:313
HP:0011947	Respiratory tract infection	6820	SULT2B1	ORPHA:313
HP:0011947	Respiratory tract infection	643418	LIPN	ORPHA:313
HP:0011947	Respiratory tract infection	59344	ALOXE3	ORPHA:313
HP:0011947	Respiratory tract infection	348938	NIPAL4	ORPHA:313
HP:0011947	Respiratory tract infection	121214	SDR9C7	ORPHA:313
HP:0011947	Respiratory tract infection	7051	TGM1	ORPHA:313
HP:0011947	Respiratory tract infection	1075	CTSC	ORPHA:678
HP:0011947	Respiratory tract infection	8943	AP3D1	OMIM:617050
HP:0011947	Respiratory tract infection	2517	FUCA1	OMIM:230000
HP:0011947	Respiratory tract infection	84665	MYPN	ORPHA:75249
HP:0011947	Respiratory tract infection	2318	FLNC	ORPHA:75249
HP:0011947	Respiratory tract infection	7139	TNNT2	ORPHA:75249
HP:0011947	Respiratory tract infection	7137	TNNI3	ORPHA:75249
HP:0011947	Respiratory tract infection	10112	KIF20A	ORPHA:75249
HP:0011947	Respiratory tract infection	1836	SLC26A2	ORPHA:628
HP:0011947	Respiratory tract infection	3636	INPPL1	OMIM:258480
HP:0011947	Respiratory tract infection	3636	INPPL1	ORPHA:2746
HP:0011947	Respiratory tract infection	2077	ERF	OMIM:617180
HP:0011947	Respiratory tract infection	3845	KRAS	OMIM:614470
HP:0011947	Respiratory tract infection	4893	NRAS	OMIM:614470
HP:0011947	Respiratory tract infection	374354	NHLRC2	OMIM:618278
HP:0011947	Respiratory tract infection	55617	TASP1	OMIM:618950
HP:0011947	Respiratory tract infection	54790	TET2	OMIM:619126
HP:0011947	Respiratory tract infection	51124	IER3IP1	OMIM:614231
HP:0011947	Respiratory tract infection	57477	SHROOM4	ORPHA:85288
HP:0011947	Respiratory tract infection	83737	ITCH	OMIM:613385
HP:0011947	Respiratory tract infection	84340	GFM2	OMIM:618397
HP:0011947	Respiratory tract infection	10398	MYL9	OMIM:619365
HP:0011947	Respiratory tract infection	10293	TRAIP	OMIM:616777
HP:0011947	Respiratory tract infection	6911	TBX6	ORPHA:1797
HP:0011947	Respiratory tract infection	11005	SPINK5	OMIM:256500
HP:0011947	Respiratory tract infection	11005	SPINK5	ORPHA:634
HP:0011947	Respiratory tract infection	2890	GRIA1	OMIM:619927
HP:0011947	Respiratory tract infection	7297	TYK2	OMIM:611521
HP:0011947	Respiratory tract infection	60482	SLC5A7	ORPHA:98914
HP:0011947	Respiratory tract infection	4649	MYO9A	ORPHA:98914
HP:0011947	Respiratory tract infection	1103	CHAT	ORPHA:98914
HP:0011947	Respiratory tract infection	6576	SLC25A1	ORPHA:98914
HP:0011947	Respiratory tract infection	6843	VAMP1	ORPHA:98914
HP:0011947	Respiratory tract infection	375790	AGRN	ORPHA:98914
HP:0011947	Respiratory tract infection	127833	SYT2	ORPHA:98914
HP:0011947	Respiratory tract infection	6572	SLC18A3	ORPHA:98914
HP:0011947	Respiratory tract infection	6616	SNAP25	ORPHA:98914
HP:0011947	Respiratory tract infection	1893	ECM1	ORPHA:530
HP:0011947	Respiratory tract infection	925	CD8A	OMIM:608957
HP:0011947	Respiratory tract infection	9895	TECPR2	ORPHA:320385
HP:0011947	Respiratory tract infection	4938	OAS1	OMIM:618042
HP:0011947	Respiratory tract infection	8651	SOCS1	OMIM:619375
HP:0011947	Respiratory tract infection	738	VPS51	OMIM:618606
HP:0011947	Respiratory tract infection	5116	PCNT	ORPHA:2637
HP:0011947	Respiratory tract infection	5430	POLR2A	OMIM:618603
HP:0011947	Respiratory tract infection	23522	KAT6B	ORPHA:3047
HP:0011947	Respiratory tract infection	26123	TCTN3	ORPHA:2753
HP:0011947	Respiratory tract infection	9897	WASHC5	ORPHA:7
HP:0011947	Respiratory tract infection	28952	CCDC22	ORPHA:7
HP:0011947	Respiratory tract infection	4204	MECP2	OMIM:300260
HP:0011947	Respiratory tract infection	129285	PPP1R21	OMIM:619383
HP:0011947	Respiratory tract infection	80169	CTC1	ORPHA:1775
HP:0011947	Respiratory tract infection	26277	TINF2	ORPHA:1775
HP:0011947	Respiratory tract infection	55651	NHP2	ORPHA:1775
HP:0011947	Respiratory tract infection	55135	WRAP53	ORPHA:1775
HP:0011947	Respiratory tract infection	51750	RTEL1	ORPHA:1775
HP:0011947	Respiratory tract infection	4869	NPM1	ORPHA:1775
HP:0011947	Respiratory tract infection	7012	TERC	ORPHA:1775
HP:0011947	Respiratory tract infection	55505	NOP10	ORPHA:1775
HP:0011947	Respiratory tract infection	5073	PARN	ORPHA:1775
HP:0011947	Respiratory tract infection	7015	TERT	ORPHA:1775
HP:0011947	Respiratory tract infection	1736	DKC1	ORPHA:1775
HP:0011947	Respiratory tract infection	7298	TYMS	ORPHA:1775
HP:0011947	Respiratory tract infection	406932	MIR140	OMIM:618618
HP:0011947	Respiratory tract infection	25871	NEPRO	OMIM:618853
HP:0011947	Respiratory tract infection	9325	TRIP4	ORPHA:486815
HP:0011947	Respiratory tract infection	7454	WAS	OMIM:301000
HP:0011947	Respiratory tract infection	695	BTK	OMIM:300755
HP:0011947	Respiratory tract infection	1291	COL6A1	OMIM:254090
HP:0011947	Respiratory tract infection	1292	COL6A2	OMIM:254090
HP:0011947	Respiratory tract infection	1293	COL6A3	OMIM:254090
HP:0011947	Respiratory tract infection	10664	CTCF	ORPHA:363611
HP:0011947	Respiratory tract infection	29775	CARD10	OMIM:619632
HP:0011947	Respiratory tract infection	6340	SCNN1G	ORPHA:60033
HP:0011947	Respiratory tract infection	1080	CFTR	ORPHA:60033
HP:0011947	Respiratory tract infection	6337	SCNN1A	ORPHA:60033
HP:0011947	Respiratory tract infection	6338	SCNN1B	ORPHA:60033
HP:0011947	Respiratory tract infection	213	ALB	OMIM:616000
HP:0011947	Respiratory tract infection	213	ALB	ORPHA:86816
HP:0011947	Respiratory tract infection	4261	CIITA	OMIM:209920
HP:0011947	Respiratory tract infection	5994	RFXAP	OMIM:209920
HP:0011947	Respiratory tract infection	5993	RFX5	OMIM:209920
HP:0011947	Respiratory tract infection	8625	RFXANK	OMIM:209920
HP:0011947	Respiratory tract infection	6774	STAT3	OMIM:615952
HP:0011947	Respiratory tract infection	1305	COL13A1	OMIM:616720
HP:0011947	Respiratory tract infection	5295	PIK3R1	OMIM:616005
HP:0011947	Respiratory tract infection	4860	PNP	OMIM:613179
HP:0011947	Respiratory tract infection	79912	PYROXD1	OMIM:617258
HP:0011947	Respiratory tract infection	5580	PRKCD	OMIM:615559
HP:0011947	Respiratory tract infection	2622	GAS8	OMIM:616726
HP:0011947	Respiratory tract infection	5880	RAC2	OMIM:618986
HP:0011947	Respiratory tract infection	3932	LCK	OMIM:615758
HP:0011947	Respiratory tract infection	8021	NUP214	OMIM:618426
HP:0011947	Respiratory tract infection	54440	SASH3	OMIM:301082
HP:0011947	Respiratory tract infection	959	CD40LG	OMIM:308230
HP:0011947	Respiratory tract infection	79759	ZNF668	OMIM:620194
HP:0011947	Respiratory tract infection	114803	MYSM1	ORPHA:508542
HP:0011947	Respiratory tract infection	3575	IL7R	ORPHA:169154
HP:0011947	Respiratory tract infection	3718	JAK3	OMIM:600802
HP:0011947	Respiratory tract infection	57169	ZNFX1	OMIM:619644
HP:0011947	Respiratory tract infection	6809	STX3	OMIM:619446
HP:0011947	Respiratory tract infection	8481	OFD1	OMIM:300209
HP:0011947	Respiratory tract infection	1289	COL5A1	OMIM:130000
HP:0011947	Respiratory tract infection	11151	CORO1A	OMIM:615401
HP:0011947	Respiratory tract infection	8547	FCN3	OMIM:613860
HP:0011947	Respiratory tract infection	10525	HYOU1	OMIM:233600
HP:0011947	Respiratory tract infection	4780	NFE2L2	OMIM:617744
HP:0011947	Respiratory tract infection	472	ATM	OMIM:208900
HP:0011947	Respiratory tract infection	5591	PRKDC	OMIM:615966
HP:0011947	Respiratory tract infection	973	CD79A	OMIM:613501
HP:0011947	Respiratory tract infection	91869	RFT1	OMIM:612015
HP:0011947	Respiratory tract infection	64135	IFIH1	OMIM:615846
HP:0011947	Respiratory tract infection	8292	COLQ	ORPHA:98915
HP:0011947	Respiratory tract infection	3913	LAMB2	ORPHA:98915
HP:0011947	Respiratory tract infection	6662	SOX9	OMIM:114290
HP:0011947	Respiratory tract infection	10551	AGR2	OMIM:620233
HP:0011947	Respiratory tract infection	3908	LAMA2	ORPHA:258
HP:0011947	Respiratory tract infection	57609	DIP2B	OMIM:136630
HP:0011947	Respiratory tract infection	4718	NDUFC2	OMIM:619170
HP:0011947	Respiratory tract infection	3978	LIG1	OMIM:619774
HP:0011947	Respiratory tract infection	79989	IFT56	OMIM:619534
HP:0011947	Respiratory tract infection	2530	FUT8	OMIM:618005
HP:0011947	Respiratory tract infection	1493	CTLA4	OMIM:616100
HP:0011947	Respiratory tract infection	92579	G6PC3	OMIM:612541
HP:0011947	Respiratory tract infection	50628	GEMIN4	OMIM:617913
HP:0011947	Respiratory tract infection	5426	POLE	OMIM:615139
HP:0011947	Respiratory tract infection	92344	GORAB	OMIM:231070
HP:0011947	Respiratory tract infection	3514	IGKC	ORPHA:183675
HP:0011947	Respiratory tract infection	3501	IGHG2	ORPHA:183675
HP:0011947	Respiratory tract infection	1604	CD55	OMIM:226300
HP:0011947	Respiratory tract infection	7174	TPP2	OMIM:619220
HP:0011947	Respiratory tract infection	115399	LRRC56	OMIM:618254
HP:0011947	Respiratory tract infection	10892	MALT1	OMIM:615468
HP:0011947	Respiratory tract infection	4591	TRIM37	OMIM:253250
HP:0011947	Respiratory tract infection	2302	FOXJ1	OMIM:618699
HP:0011947	Respiratory tract infection	10125	RASGRP1	OMIM:618534
HP:0011947	Respiratory tract infection	7407	VARS1	OMIM:617802
HP:0011947	Respiratory tract infection	6304	SATB1	OMIM:619229
HP:0011947	Respiratory tract infection	9138	ARHGEF1	OMIM:618459
HP:0011947	Respiratory tract infection	83483	PLVAP	OMIM:618183
HP:0011947	Respiratory tract infection	6448	SGSH	OMIM:252900
HP:0011947	Respiratory tract infection	3953	LEPR	OMIM:614963
HP:0011947	Respiratory tract infection	3953	LEPR	ORPHA:179494
HP:0011947	Respiratory tract infection	3852	KRT5	OMIM:619599
HP:0011947	Respiratory tract infection	920	CD4	OMIM:619238
HP:0011947	Respiratory tract infection	3570	IL6R	OMIM:618944
HP:0011947	Respiratory tract infection	79803	HPS6	OMIM:614075
HP:0011947	Respiratory tract infection	5340	PLG	OMIM:217090
HP:0011947	Respiratory tract infection	2799	GNS	OMIM:252940
HP:0011947	Respiratory tract infection	23247	KATNIP	OMIM:616784
HP:0011947	Respiratory tract infection	138050	HGSNAT	OMIM:252930
HP:0011947	Respiratory tract infection	2542	SLC37A4	OMIM:232240
HP:0011947	Respiratory tract infection	55023	PHIP	ORPHA:589905
HP:0011947	Respiratory tract infection	7388	UQCRH	OMIM:620137
HP:0011947	Respiratory tract infection	4669	NAGLU	OMIM:252920
HP:0011947	Respiratory tract infection	54808	DYM	ORPHA:239
HP:0011947	Respiratory tract infection	27019	DNAI1	OMIM:244400
HP:0011947	Respiratory tract infection	374407	DNAJB13	OMIM:617091
HP:0011947	Respiratory tract infection	6595	SMARCA2	OMIM:619293
HP:0011947	Respiratory tract infection	4791	NFKB2	ORPHA:293978
HP:0011947	Respiratory tract infection	4791	NFKB2	ORPHA:1572
HP:0011947	Respiratory tract infection	23495	TNFRSF13B	OMIM:240500
HP:0011947	Respiratory tract infection	23495	TNFRSF13B	ORPHA:1572
HP:0011947	Respiratory tract infection	115650	TNFRSF13C	OMIM:240500
HP:0011947	Respiratory tract infection	115650	TNFRSF13C	ORPHA:1572
HP:0011947	Respiratory tract infection	1380	CR2	OMIM:240500
HP:0011947	Respiratory tract infection	1380	CR2	ORPHA:1572
HP:0011947	Respiratory tract infection	29851	ICOS	OMIM:240500
HP:0011947	Respiratory tract infection	29851	ICOS	ORPHA:1572
HP:0011947	Respiratory tract infection	29851	ICOS	OMIM:607594
HP:0011947	Respiratory tract infection	930	CD19	OMIM:240500
HP:0011947	Respiratory tract infection	930	CD19	ORPHA:1572
HP:0011947	Respiratory tract infection	84061	MAGT1	OMIM:300853
HP:0011947	Respiratory tract infection	4256	MGP	OMIM:245150
HP:0011947	Respiratory tract infection	6103	RPGR	OMIM:300455
HP:0011947	Respiratory tract infection	123872	DNAAF1	OMIM:613193
HP:0011947	Respiratory tract infection	4683	NBN	OMIM:251260
HP:0011947	Respiratory tract infection	23765	IL17RA	OMIM:613953
HP:0011947	Respiratory tract infection	3588	IL10RB	OMIM:612567
HP:0011947	Respiratory tract infection	3561	IL2RG	OMIM:312863
HP:0011947	Respiratory tract infection	974	CD79B	OMIM:612692
HP:0011947	Respiratory tract infection	4790	NFKB1	ORPHA:1572
HP:0011947	Respiratory tract infection	8742	TNFSF12	ORPHA:1572
HP:0011947	Respiratory tract infection	931	MS4A1	ORPHA:1572
HP:0011947	Respiratory tract infection	975	CD81	ORPHA:1572
HP:0011947	Respiratory tract infection	359948	IRF2BP2	ORPHA:1572
HP:0011947	Respiratory tract infection	6901	TAFAZZIN	OMIM:302060
HP:0011947	Respiratory tract infection	79158	GNPTAB	OMIM:252500
HP:0011947	Respiratory tract infection	26146	TRAF3IP1	OMIM:616629
HP:0011947	Respiratory tract infection	8518	ELP1	OMIM:223900
HP:0011947	Respiratory tract infection	57731	SPTBN4	OMIM:617519
HP:0011947	Respiratory tract infection	3426	CFI	OMIM:610984
HP:0011947	Respiratory tract infection	51135	IRAK4	ORPHA:70592
HP:0011947	Respiratory tract infection	25981	DNAH1	ORPHA:244
HP:0011947	Respiratory tract infection	115948	ODAD3	ORPHA:244
HP:0011947	Respiratory tract infection	352909	DNAAF3	ORPHA:244
HP:0011947	Respiratory tract infection	51314	NME8	ORPHA:244
HP:0011947	Respiratory tract infection	54970	TTC12	ORPHA:244
HP:0011947	Respiratory tract infection	152110	NEK10	ORPHA:244
HP:0011947	Respiratory tract infection	221421	RSPH9	ORPHA:244
HP:0011947	Respiratory tract infection	85478	CCDC65	ORPHA:244
HP:0011947	Respiratory tract infection	51364	ZMYND10	ORPHA:244
HP:0011947	Respiratory tract infection	64446	DNAI2	ORPHA:244
HP:0011947	Respiratory tract infection	6674	SPAG1	ORPHA:244
HP:0011947	Respiratory tract infection	83544	DNAL1	ORPHA:244
HP:0011947	Respiratory tract infection	89765	RSPH1	ORPHA:244
HP:0011947	Respiratory tract infection	200373	CFAP221	ORPHA:244
HP:0011947	Respiratory tract infection	55172	DNAAF2	ORPHA:244
HP:0011947	Respiratory tract infection	23639	DNAAF11	ORPHA:244
HP:0011947	Respiratory tract infection	345895	RSPH4A	ORPHA:244
HP:0011947	Respiratory tract infection	54919	DNAAF5	ORPHA:244
HP:0011947	Respiratory tract infection	388389	CCDC103	ORPHA:244
HP:0011947	Respiratory tract infection	1767	DNAH5	ORPHA:244
HP:0011947	Respiratory tract infection	83861	RSPH3	ORPHA:244
HP:0011947	Respiratory tract infection	345643	MCIDAS	ORPHA:244
HP:0011947	Respiratory tract infection	56683	CFAP298	ORPHA:244
HP:0011947	Respiratory tract infection	79925	SPEF2	ORPHA:244
HP:0011947	Respiratory tract infection	10309	CCNO	ORPHA:244
HP:0011947	Respiratory tract infection	139212	DNAAF6	ORPHA:244
HP:0011947	Respiratory tract infection	85016	CFAP300	ORPHA:244
HP:0011947	Respiratory tract infection	1770	DNAH9	ORPHA:244
HP:0011947	Respiratory tract infection	246176	GAS2L2	ORPHA:244
HP:0011947	Respiratory tract infection	10312	TCIRG1	ORPHA:486
HP:0011947	Respiratory tract infection	1991	ELANE	ORPHA:486
HP:0011947	Respiratory tract infection	2672	GFI1	ORPHA:486
HP:0011947	Respiratory tract infection	6729	SRP54	ORPHA:486
HP:0011947	Respiratory tract infection	7037	TFRC	OMIM:616740
HP:0011947	Respiratory tract infection	60468	BACH2	OMIM:618394
HP:0011947	Respiratory tract infection	23545	ATP6V0A2	ORPHA:2834
HP:0011947	Respiratory tract infection	841	CASP8	OMIM:607271
HP:0011947	Respiratory tract infection	56259	CTNNBL1	OMIM:619846
HP:0011947	Respiratory tract infection	5294	PIK3CG	OMIM:619802
HP:0011947	Respiratory tract infection	100	ADA	ORPHA:277
HP:0011947	Respiratory tract infection	100	ADA	OMIM:102700
HP:0011947	Respiratory tract infection	2137	EXTL3	ORPHA:508533
HP:0011947	Respiratory tract infection	4921	DDR2	OMIM:271665
HP:0011947	Respiratory tract infection	3763	KCNJ6	ORPHA:435628
HP:0011947	Respiratory tract infection	3763	KCNJ6	OMIM:614098
HP:0011947	Respiratory tract infection	83538	ODAD4	OMIM:617092
HP:0011947	Respiratory tract infection	5351	PLOD1	OMIM:225400
HP:0011947	Respiratory tract infection	5351	PLOD1	ORPHA:1900
HP:0011947	Respiratory tract infection	6477	SIAH1	OMIM:619314
HP:0011947	Respiratory tract infection	4688	NCF2	OMIM:233710
HP:0011947	Respiratory tract infection	8425	LTBP4	OMIM:613177
HP:0011947	Respiratory tract infection	5238	PGM3	ORPHA:443811
HP:0011947	Respiratory tract infection	27148	STK36	OMIM:619436
HP:0011947	Respiratory tract infection	11133	KPTN	OMIM:615637
HP:0011947	Respiratory tract infection	11133	KPTN	ORPHA:397612
HP:0011947	Respiratory tract infection	57539	WDR35	OMIM:613610
HP:0011947	Respiratory tract infection	81857	MED25	OMIM:616449
HP:0011947	Respiratory tract infection	81857	MED25	ORPHA:464738
HP:0011947	Respiratory tract infection	100151683	RNU4ATAC	ORPHA:353298
HP:0011947	Respiratory tract infection	100151683	RNU4ATAC	OMIM:616651
HP:0011947	Respiratory tract infection	987	LRBA	OMIM:614700
HP:0011947	Respiratory tract infection	755	CFAP410	OMIM:602271
HP:0011947	Respiratory tract infection	9094	UNC119	OMIM:615518
HP:0011947	Respiratory tract infection	126792	B3GALT6	OMIM:609465
HP:0011947	Respiratory tract infection	79650	USB1	OMIM:604173
HP:0011947	Respiratory tract infection	6720	SREBF1	OMIM:158310
HP:0011947	Respiratory tract infection	1302	COL11A2	OMIM:215150
HP:0011947	Respiratory tract infection	54768	HYDIN	OMIM:608647
HP:0011947	Respiratory tract infection	4522	MTHFD1	OMIM:617780
HP:0011947	Respiratory tract infection	161582	DNAAF4	OMIM:615482
HP:0011947	Respiratory tract infection	9948	WDR1	OMIM:150550
HP:0011947	Respiratory tract infection	939	CD27	OMIM:615122
HP:0011947	Respiratory tract infection	10157	AASS	ORPHA:2203
HP:0011947	Respiratory tract infection	5184	PEPD	OMIM:170100
HP:0011947	Respiratory tract infection	65082	VPS33A	OMIM:617303
HP:0011947	Respiratory tract infection	3543	IGLL1	OMIM:613500
HP:0011947	Respiratory tract infection	29760	BLNK	OMIM:613502
HP:0011947	Respiratory tract infection	8382	NME5	OMIM:620032
HP:0011947	Respiratory tract infection	6440	SFTPC	OMIM:610913
HP:0011947	Respiratory tract infection	3417	IDH1	ORPHA:99646
HP:0011947	Respiratory tract infection	6904	TBCD	ORPHA:496641
HP:0011947	Respiratory tract infection	2212	FCGR2A	OMIM:219700
HP:0011947	Respiratory tract infection	7040	TGFB1	OMIM:219700
HP:0011947	Respiratory tract infection	915	CD3D	ORPHA:169160
HP:0011947	Respiratory tract infection	916	CD3E	ORPHA:169160
HP:0011947	Respiratory tract infection	919	CD247	ORPHA:169160
HP:0011947	Respiratory tract infection	919	CD247	OMIM:610163
HP:0011947	Respiratory tract infection	7084	TK2	ORPHA:254875
HP:0011947	Respiratory tract infection	3952	LEP	OMIM:614962
HP:0011947	Respiratory tract infection	8792	TNFRSF11A	OMIM:612301
HP:0011947	Respiratory tract infection	10095	ARPC1B	OMIM:617718
HP:0011947	Respiratory tract infection	7840	ALMS1	OMIM:203800
HP:0011947	Respiratory tract infection	7840	ALMS1	ORPHA:64
HP:0011947	Respiratory tract infection	7080	NKX2-1	ORPHA:209905
HP:0011947	Respiratory tract infection	8546	AP3B1	OMIM:608233
HP:0011947	Respiratory tract infection	79087	ALG12	OMIM:607143
HP:0011947	Respiratory tract infection	79087	ALG12	ORPHA:79324
HP:0011947	Respiratory tract infection	6899	TBX1	OMIM:188400
HP:0011947	Respiratory tract infection	7852	CXCR4	ORPHA:51636
HP:0011947	Respiratory tract infection	54681	P4HTM	OMIM:618493
HP:0011947	Respiratory tract infection	146206	CARMIL2	OMIM:618131
HP:0011947	Respiratory tract infection	79415	CYBC1	OMIM:618935
HP:0011947	Respiratory tract infection	653361	NCF1	OMIM:233700
HP:0011947	Respiratory tract infection	23594	ORC6	OMIM:613803
HP:0011947	Respiratory tract infection	26040	SETBP1	ORPHA:798
HP:0011947	Respiratory tract infection	55036	CCDC40	OMIM:613808
HP:0011947	Respiratory tract infection	339829	CCDC39	OMIM:613807
HP:0011947	Respiratory tract infection	2074	ERCC6	OMIM:214150
HP:0011947	Respiratory tract infection	2328	FMO3	OMIM:602079
HP:0011947	Respiratory tract infection	3572	IL6ST	OMIM:619752
HP:0011947	Respiratory tract infection	3572	IL6ST	OMIM:619750
HP:0011947	Respiratory tract infection	2588	GALNS	OMIM:253000
HP:0011947	Respiratory tract infection	718	C3	OMIM:613779
HP:0011947	Respiratory tract infection	4796	TONSL	ORPHA:93357
HP:0011947	Respiratory tract infection	3507	IGHM	OMIM:601495
HP:0011947	Respiratory tract infection	5971	RELB	OMIM:617585
HP:0011947	Respiratory tract infection	50615	IL21R	OMIM:615207
HP:0011947	Respiratory tract infection	8701	DNAH11	OMIM:611884
HP:0011947	Respiratory tract infection	51341	ZBTB7A	OMIM:619769
HP:0011947	Respiratory tract infection	199221	DZIP1L	ORPHA:731
HP:0011947	Respiratory tract infection	5314	PKHD1	ORPHA:731
HP:0011947	Respiratory tract infection	84905	ZNF341	OMIM:618282
HP:0011947	Respiratory tract infection	5422	POLA1	OMIM:301220
HP:0011947	Respiratory tract infection	92749	DRC1	OMIM:615294
HP:0011947	Respiratory tract infection	5317	PKP1	ORPHA:158668
HP:0011947	Respiratory tract infection	54941	RNF125	OMIM:616260
HP:0011947	Respiratory tract infection	3423	IDS	OMIM:309900
HP:0011947	Respiratory tract infection	5879	RAC1	OMIM:617751
HP:0011947	Respiratory tract infection	5879	RAC1	ORPHA:500159
HP:0011947	Respiratory tract infection	6603	SMARCD2	OMIM:617475
HP:0011947	Respiratory tract infection	55130	ODAD2	OMIM:615451
HP:0011947	Respiratory tract infection	10747	MASP2	OMIM:613791
HP:0011947	Respiratory tract infection	27040	LAT	OMIM:617514
HP:0011947	Respiratory tract infection	4052	LTBP1	ORPHA:90349
HP:0011947	Respiratory tract infection	30008	EFEMP2	ORPHA:90349
HP:0011947	Respiratory tract infection	1535	CYBA	OMIM:233690
HP:0011947	Respiratory tract infection	1536	CYBB	OMIM:306400
HP:0011947	Respiratory tract infection	81704	DOCK8	OMIM:243700
HP:0011947	Respiratory tract infection	81570	CLPB	OMIM:616271
HP:0011947	Respiratory tract infection	93233	ODAD1	OMIM:615067
HP:0011947	Respiratory tract infection	57728	WDR19	OMIM:614378
HP:0011947	Respiratory tract infection	721	C4B	OMIM:614379
HP:0011947	Respiratory tract infection	1794	DOCK2	OMIM:616433
HP:0011947	Respiratory tract infection	284119	CAVIN1	OMIM:613327
HP:0011947	Respiratory tract infection	6929	TCF3	OMIM:619824
HP:0011947	Respiratory tract infection	871	SERPINH1	OMIM:613848
HP:0011947	Respiratory tract infection	55294	FBXW7	OMIM:620012
HP:0011947	Respiratory tract infection	165918	RNF168	ORPHA:420741
HP:0011947	Respiratory tract infection	28956	LAMTOR2	OMIM:610798
HP:0011947	Respiratory tract infection	28956	LAMTOR2	ORPHA:90023
HP:0011947	Respiratory tract infection	404672	GTF2H5	ORPHA:33364
HP:0011947	Respiratory tract infection	833	CARS1	ORPHA:33364
HP:0011947	Respiratory tract infection	2068	ERCC2	ORPHA:33364
HP:0011947	Respiratory tract infection	7737	RNF113A	ORPHA:33364
HP:0011947	Respiratory tract infection	136647	MPLKIP	ORPHA:33364
HP:0011947	Respiratory tract infection	6897	TARS1	ORPHA:33364
HP:0011947	Respiratory tract infection	2071	ERCC3	ORPHA:33364
HP:0011947	Respiratory tract infection	2961	GTF2E2	ORPHA:33364
HP:0011947	Respiratory tract infection	30011	SH3KBP1	OMIM:300310
HP:0011947	Respiratory tract infection	54499	TMCO1	OMIM:213980
HP:0011947	Respiratory tract infection	6813	STXBP2	OMIM:613101
HP:0011947	Respiratory tract infection	51816	ADA2	OMIM:615688
HP:0011947	Respiratory tract infection	85452	CFAP74	OMIM:620197
HP:0011947	Respiratory tract infection	1290	COL5A2	OMIM:130010
HP:0011947	Respiratory tract infection	10625	IVNS1ABP	OMIM:618969
HP:0011947	Respiratory tract infection	4194	MDM4	OMIM:618849
HP:0011947	Respiratory tract infection	3551	IKBKB	OMIM:618204
HP:0011947	Respiratory tract infection	4689	NCF4	OMIM:613960
HP:0011947	Respiratory tract infection	6688	SPI1	OMIM:619707
HP:0011947	Respiratory tract infection	5696	PSMB8	OMIM:256040
HP:0011947	Respiratory tract infection	2214	FCGR3A	OMIM:615707
HP:0011947	Respiratory tract infection	5913	RAPSN	OMIM:616326
HP:0011947	Respiratory tract infection	1387	CREBBP	OMIM:180849
HP:0011947	Respiratory tract infection	2033	EP300	OMIM:180849
HP:0011947	Respiratory tract infection	1503	CTPS1	OMIM:615897
HP:0011947	Respiratory tract infection	5194	PEX13	OMIM:614885
HP:0011947	Respiratory tract infection	3458	IFNG	ORPHA:805
HP:0011947	Respiratory tract infection	7248	TSC1	ORPHA:805
HP:0011947	Respiratory tract infection	7249	TSC2	ORPHA:805
HP:0011947	Respiratory tract infection	3098	HK1	OMIM:618547
HP:0011947	Respiratory tract infection	641	BLM	ORPHA:125
HP:0011947	Respiratory tract infection	10568	SLC34A2	ORPHA:60025
HP:0011947	Respiratory tract infection	2934	GSN	ORPHA:85448
HP:0011947	Respiratory tract infection	2548	GAA	ORPHA:308552
HP:0011947	Respiratory tract infection	1896	EDA	OMIM:313500
HP:0011947	Respiratory tract infection	4654	MYOD1	OMIM:618975
HP:0011947	Respiratory tract infection	21	ABCA3	ORPHA:70587
HP:0011947	Respiratory tract infection	6439	SFTPB	ORPHA:70587
HP:0011947	Respiratory tract infection	9990	SLC12A6	OMIM:218000
HP:0011947	Respiratory tract infection	4758	NEU1	ORPHA:93400
HP:0011947	Respiratory tract infection	4868	NPHS1	ORPHA:656
HP:0011947	Respiratory tract infection	23607	CD2AP	ORPHA:656
HP:0011947	Respiratory tract infection	9688	NUP93	ORPHA:656
HP:0011947	Respiratory tract infection	4643	MYO1E	ORPHA:656
HP:0011947	Respiratory tract infection	64423	INF2	ORPHA:656
HP:0011947	Respiratory tract infection	26130	GAPVD1	ORPHA:656
HP:0011947	Respiratory tract infection	7490	WT1	ORPHA:656
HP:0011947	Respiratory tract infection	57122	NUP107	ORPHA:656
HP:0011947	Respiratory tract infection	51479	ANKFY1	ORPHA:656
HP:0011947	Respiratory tract infection	54443	ANLN	ORPHA:656
HP:0011947	Respiratory tract infection	5800	PTPRO	ORPHA:656
HP:0011947	Respiratory tract infection	286204	CRB2	ORPHA:656
HP:0011947	Respiratory tract infection	23165	NUP205	ORPHA:656
HP:0011947	Respiratory tract infection	2013	EMP2	ORPHA:656
HP:0011947	Respiratory tract infection	79023	NUP37	ORPHA:656
HP:0011947	Respiratory tract infection	51196	PLCE1	ORPHA:656
HP:0011947	Respiratory tract infection	79902	NUP85	ORPHA:656
HP:0011947	Respiratory tract infection	1285	COL4A3	ORPHA:656
HP:0011947	Respiratory tract infection	396	ARHGDIA	ORPHA:656
HP:0011947	Respiratory tract infection	79934	COQ8B	ORPHA:656
HP:0011947	Respiratory tract infection	23279	NUP160	ORPHA:656
HP:0011947	Respiratory tract infection	9863	MAGI2	ORPHA:656
HP:0011947	Respiratory tract infection	81	ACTN4	ORPHA:656
HP:0011947	Respiratory tract infection	7225	TRPC6	ORPHA:656
HP:0011947	Respiratory tract infection	8542	APOL1	ORPHA:656
HP:0011947	Respiratory tract infection	54885	TBC1D8B	ORPHA:656
HP:0011947	Respiratory tract infection	7827	NPHS2	ORPHA:656
HP:0011947	Respiratory tract infection	83478	ARHGAP24	ORPHA:656
HP:0011947	Respiratory tract infection	23500	DAAM2	ORPHA:656
HP:0011947	Respiratory tract infection	5076	PAX2	ORPHA:656
HP:0011947	Respiratory tract infection	55746	NUP133	ORPHA:656
HP:0011947	Respiratory tract infection	65055	REEP1	OMIM:620011
HP:0011947	Respiratory tract infection	1439	CSF2RB	ORPHA:264675
HP:0011947	Respiratory tract infection	1438	CSF2RA	ORPHA:264675
HP:0011947	Respiratory tract infection	55343	SLC35C1	OMIM:266265
HP:0011947	Respiratory tract infection	5339	PLEC	ORPHA:254361
HP:0011947	Respiratory tract infection	10806	SDCCAG8	OMIM:615993
HP:0011947	Respiratory tract infection	2006	ELN	ORPHA:90348
HP:0011947	Respiratory tract infection	10516	FBLN5	ORPHA:90348
HP:0011947	Respiratory tract infection	5832	ALDH18A1	ORPHA:90348
HP:0011947	Respiratory tract infection	5336	PLCG2	OMIM:614878
HP:0011947	Respiratory tract infection	6890	TAP1	OMIM:604571
HP:0011947	Respiratory tract infection	6891	TAP2	OMIM:604571
HP:0011947	Respiratory tract infection	6892	TAPBP	OMIM:604571
HP:0011947	Respiratory tract infection	5373	PMM2	ORPHA:79318
HP:0011947	Respiratory tract infection	9342	SNAP29	OMIM:609528
HP:0011947	Respiratory tract infection	55791	LRIF1	OMIM:619477
HP:0011947	Respiratory tract infection	54809	SAMD9	OMIM:617053
HP:0011947	Respiratory tract infection	55037	PTCD3	OMIM:619057
HP:0011947	Respiratory tract infection	2260	FGFR1	ORPHA:220386
HP:0011947	Respiratory tract infection	2260	FGFR1	ORPHA:93924
HP:0011947	Respiratory tract infection	28514	DLL1	ORPHA:220386
HP:0011947	Respiratory tract infection	28514	DLL1	ORPHA:93926
HP:0011947	Respiratory tract infection	28514	DLL1	ORPHA:93924
HP:0011947	Respiratory tract infection	28514	DLL1	ORPHA:93925
HP:0011947	Respiratory tract infection	10735	STAG2	ORPHA:220386
HP:0011947	Respiratory tract infection	10735	STAG2	ORPHA:93925
HP:0011947	Respiratory tract infection	2253	FGF8	ORPHA:220386
HP:0011947	Respiratory tract infection	2253	FGF8	ORPHA:93926
HP:0011947	Respiratory tract infection	2253	FGF8	ORPHA:93924
HP:0011947	Respiratory tract infection	2253	FGF8	ORPHA:93925
HP:0011947	Respiratory tract infection	8243	SMC1A	ORPHA:220386
HP:0011947	Respiratory tract infection	6496	SIX3	ORPHA:220386
HP:0011947	Respiratory tract infection	6496	SIX3	ORPHA:93926
HP:0011947	Respiratory tract infection	6496	SIX3	ORPHA:93924
HP:0011947	Respiratory tract infection	6496	SIX3	ORPHA:93925
HP:0011947	Respiratory tract infection	7050	TGIF1	ORPHA:220386
HP:0011947	Respiratory tract infection	7050	TGIF1	ORPHA:93926
HP:0011947	Respiratory tract infection	7050	TGIF1	ORPHA:93924
HP:0011947	Respiratory tract infection	7050	TGIF1	ORPHA:93925
HP:0011947	Respiratory tract infection	4838	NODAL	ORPHA:220386
HP:0011947	Respiratory tract infection	4838	NODAL	ORPHA:93926
HP:0011947	Respiratory tract infection	4838	NODAL	ORPHA:93924
HP:0011947	Respiratory tract infection	4838	NODAL	ORPHA:93925
HP:0011947	Respiratory tract infection	6469	SHH	ORPHA:220386
HP:0011947	Respiratory tract infection	6469	SHH	ORPHA:93926
HP:0011947	Respiratory tract infection	6469	SHH	ORPHA:93924
HP:0011947	Respiratory tract infection	6469	SHH	ORPHA:93925
HP:0011947	Respiratory tract infection	7546	ZIC2	ORPHA:220386
HP:0011947	Respiratory tract infection	7546	ZIC2	ORPHA:93926
HP:0011947	Respiratory tract infection	7546	ZIC2	ORPHA:93924
HP:0011947	Respiratory tract infection	7546	ZIC2	ORPHA:93925
HP:0011947	Respiratory tract infection	6491	STIL	ORPHA:220386
HP:0011947	Respiratory tract infection	6491	STIL	ORPHA:93926
HP:0011947	Respiratory tract infection	6491	STIL	ORPHA:93924
HP:0011947	Respiratory tract infection	6491	STIL	ORPHA:93925
HP:0011947	Respiratory tract infection	2619	GAS1	ORPHA:220386
HP:0011947	Respiratory tract infection	2619	GAS1	ORPHA:93926
HP:0011947	Respiratory tract infection	2619	GAS1	ORPHA:93924
HP:0011947	Respiratory tract infection	2619	GAS1	ORPHA:93925
HP:0011947	Respiratory tract infection	84976	DISP1	ORPHA:220386
HP:0011947	Respiratory tract infection	84976	DISP1	ORPHA:93926
HP:0011947	Respiratory tract infection	84976	DISP1	ORPHA:93924
HP:0011947	Respiratory tract infection	84976	DISP1	ORPHA:93925
HP:0011947	Respiratory tract infection	2736	GLI2	ORPHA:220386
HP:0011947	Respiratory tract infection	2736	GLI2	ORPHA:93926
HP:0011947	Respiratory tract infection	2736	GLI2	ORPHA:93924
HP:0011947	Respiratory tract infection	2736	GLI2	ORPHA:93925
HP:0011947	Respiratory tract infection	8928	FOXH1	ORPHA:220386
HP:0011947	Respiratory tract infection	8928	FOXH1	ORPHA:93926
HP:0011947	Respiratory tract infection	8928	FOXH1	ORPHA:93924
HP:0011947	Respiratory tract infection	8928	FOXH1	ORPHA:93925
HP:0011947	Respiratory tract infection	5727	PTCH1	ORPHA:220386
HP:0011947	Respiratory tract infection	5727	PTCH1	ORPHA:93926
HP:0011947	Respiratory tract infection	5727	PTCH1	ORPHA:93924
HP:0011947	Respiratory tract infection	5727	PTCH1	ORPHA:93925
HP:0011947	Respiratory tract infection	50937	CDON	ORPHA:220386
HP:0011947	Respiratory tract infection	50937	CDON	ORPHA:93926
HP:0011947	Respiratory tract infection	50937	CDON	ORPHA:93924
HP:0011947	Respiratory tract infection	50937	CDON	ORPHA:93925
HP:0011947	Respiratory tract infection	27125	AFF4	OMIM:616368
HP:0011947	Respiratory tract infection	27125	AFF4	ORPHA:444077
HP:0011947	Respiratory tract infection	6597	SMARCA4	ORPHA:1465
HP:0011947	Respiratory tract infection	6598	SMARCB1	ORPHA:1465
HP:0011947	Respiratory tract infection	6659	SOX4	ORPHA:1465
HP:0011947	Respiratory tract infection	8289	ARID1A	ORPHA:1465
HP:0011947	Respiratory tract infection	5977	DPF2	ORPHA:1465
HP:0011947	Respiratory tract infection	6601	SMARCC2	ORPHA:1465
HP:0011947	Respiratory tract infection	6602	SMARCD1	ORPHA:1465
HP:0011947	Respiratory tract infection	57492	ARID1B	ORPHA:1465
HP:0011947	Respiratory tract infection	196528	ARID2	ORPHA:1465
HP:0011947	Respiratory tract infection	6605	SMARCE1	ORPHA:1465
HP:0011947	Respiratory tract infection	6664	SOX11	ORPHA:1465
HP:0011947	Respiratory tract infection	133686	NADK2	ORPHA:431361
HP:0011947	Respiratory tract infection	8398	PLA2G6	ORPHA:35069
HP:0011947	Respiratory tract infection	5048	PAFAH1B1	ORPHA:95232
HP:0011947	Respiratory tract infection	6872	TAF1	ORPHA:53351
HP:0011947	Respiratory tract infection	526	ATP6V1B2	ORPHA:79500
HP:0011947	Respiratory tract infection	57465	TBC1D24	ORPHA:79500
HP:0011947	Respiratory tract infection	9896	FIG4	OMIM:216340
HP:0011947	Respiratory tract infection	7314	UBB	ORPHA:99772
HP:0011947	Respiratory tract infection	57822	GRHL3	ORPHA:99772
HP:0011947	Respiratory tract infection	1678	TIMM8A	ORPHA:52368
HP:0011947	Respiratory tract infection	283446	MYO1H	OMIM:619482
HP:0011947	Respiratory tract infection	57190	SELENON	ORPHA:2020
HP:0011947	Respiratory tract infection	58	ACTA1	ORPHA:2020
HP:0011947	Respiratory tract infection	4633	MYL2	ORPHA:2020
HP:0011947	Respiratory tract infection	3679	ITGA7	ORPHA:2020
HP:0011947	Respiratory tract infection	7169	TPM2	ORPHA:2020
HP:0011947	Respiratory tract infection	9200	HACD1	ORPHA:2020
HP:0011947	Respiratory tract infection	7170	TPM3	ORPHA:2020
HP:0011947	Respiratory tract infection	51776	MAP3K20	ORPHA:2020
HP:0011947	Respiratory tract infection	80025	PANK2	ORPHA:216866
HP:0011947	Respiratory tract infection	92935	MARS2	OMIM:616430
HP:0011947	Respiratory tract infection	4700	NDUFA6	OMIM:618253
HP:0011947	Respiratory tract infection	6392	SDHD	OMIM:619167
HP:0011947	Respiratory tract infection	10342	TFG	ORPHA:90117
HP:0011947	Respiratory tract infection	23007	PLCH1	ORPHA:93925
HP:0011947	Respiratory tract infection	5277	PIGA	OMIM:301072
HP:0011947	Respiratory tract infection	2720	GLB1	ORPHA:79255
HP:0011947	Respiratory tract infection	4001	LMNB1	ORPHA:99027
HP:0011947	Respiratory tract infection	5813	PURA	ORPHA:314655
HP:0011947	Respiratory tract infection	1288	COL4A6	ORPHA:1018
HP:0011947	Respiratory tract infection	1287	COL4A5	ORPHA:1018
HP:0011947	Respiratory tract infection	567	B2M	OMIM:241600
HP:0011947	Respiratory tract infection	23149	FCHO1	OMIM:619164
HP:0011947	Respiratory tract infection	1956	EGFR	OMIM:616069
HP:0011947	Respiratory tract infection	26191	PTPN22	ORPHA:397
HP:0011947	Respiratory tract infection	3106	HLA-B	ORPHA:397
HP:0011947	Respiratory tract infection	3123	HLA-DRB1	ORPHA:397
HP:0011947	Respiratory tract infection	8974	P4HA2	ORPHA:397
HP:0011947	Respiratory tract infection	55315	SLC29A3	ORPHA:168569
HP:0011947	Respiratory tract infection	7132	TNFRSF1A	ORPHA:32960
HP:0011947	Respiratory tract infection	331	XIAP	OMIM:308240
HP:0011947	Respiratory tract infection	4068	SH2D1A	OMIM:308240
HP:0011947	Respiratory tract infection	2737	GLI3	ORPHA:672
HP:0011947	Respiratory tract infection	5896	RAG1	ORPHA:331206
HP:0011947	Respiratory tract infection	5897	RAG2	ORPHA:331206
HP:0011947	Respiratory tract infection	4247	MGAT2	ORPHA:79329
HP:0011947	Respiratory tract infection	8239	USP9X	ORPHA:480880
HP:0011947	Respiratory tract infection	57379	AICDA	OMIM:605258
HP:0011947	Respiratory tract infection	64421	DCLRE1C	ORPHA:275
HP:0011947	Respiratory tract infection	7374	UNG	OMIM:608106
HP:0011947	Respiratory tract infection	29969	MDFIC	OMIM:620014
HP:0011947	Respiratory tract infection	7535	ZAP70	ORPHA:911
HP:0011948	Recurrent acute respiratory tract infection	65055	REEP1	OMIM:620011
HP:0011948	Recurrent acute respiratory tract infection	55343	SLC35C1	OMIM:266265
HP:0011948	Recurrent acute respiratory tract infection	5339	PLEC	ORPHA:254361
HP:0011948	Recurrent acute respiratory tract infection	10806	SDCCAG8	OMIM:615993
HP:0011948	Recurrent acute respiratory tract infection	2006	ELN	ORPHA:90348
HP:0011948	Recurrent acute respiratory tract infection	10516	FBLN5	ORPHA:90348
HP:0011948	Recurrent acute respiratory tract infection	5832	ALDH18A1	ORPHA:90348
HP:0011948	Recurrent acute respiratory tract infection	5336	PLCG2	OMIM:614878
HP:0011948	Recurrent acute respiratory tract infection	6890	TAP1	OMIM:604571
HP:0011948	Recurrent acute respiratory tract infection	6891	TAP2	OMIM:604571
HP:0011948	Recurrent acute respiratory tract infection	6892	TAPBP	OMIM:604571
HP:0011948	Recurrent acute respiratory tract infection	2629	GBA1	OMIM:230900
HP:0011949	Acute infectious pneumonia	1439	CSF2RB	ORPHA:264675
HP:0011949	Acute infectious pneumonia	1438	CSF2RA	ORPHA:264675
HP:0011949	Acute infectious pneumonia	6340	SCNN1G	ORPHA:60033
HP:0011949	Acute infectious pneumonia	1080	CFTR	ORPHA:60033
HP:0011949	Acute infectious pneumonia	6337	SCNN1A	ORPHA:60033
HP:0011949	Acute infectious pneumonia	6338	SCNN1B	ORPHA:60033
HP:0011941	Anterior wedging of L2	411	ARSB	OMIM:253200
HP:0000399	Prelingual sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0000399	Prelingual sensorineural hearing impairment	1678	TIMM8A	ORPHA:52368
HP:0000399	Prelingual sensorineural hearing impairment	10804	GJB6	ORPHA:477
HP:0000399	Prelingual sensorineural hearing impairment	2706	GJB2	ORPHA:477
HP:0000399	Prelingual sensorineural hearing impairment	64072	CDH23	OMIM:601386
HP:0000399	Prelingual sensorineural hearing impairment	491	ATP2B2	OMIM:601386
HP:0000399	Prelingual sensorineural hearing impairment	126326	GIPC3	OMIM:601869
HP:0000399	Prelingual sensorineural hearing impairment	83715	ESPN	OMIM:618632
HP:0000399	Prelingual sensorineural hearing impairment	153562	MARVELD2	OMIM:610153
HP:0000399	Prelingual sensorineural hearing impairment	107	ADCY1	OMIM:610154
HP:0000399	Prelingual sensorineural hearing impairment	55699	IARS2	ORPHA:436174
HP:0000399	Prelingual sensorineural hearing impairment	9750	RIPOR2	OMIM:616515
HP:0000399	Prelingual sensorineural hearing impairment	3082	HGF	OMIM:608265
HP:0001732	Abnormality of the pancreas	4609	MYC	ORPHA:543
HP:0001732	Abnormality of the pancreas	6023	RMRP	ORPHA:175
HP:0001732	Abnormality of the pancreas	7018	TF	ORPHA:1195
HP:0001732	Abnormality of the pancreas	9652	SKIC3	OMIM:222470
HP:0001732	Abnormality of the pancreas	8647	ABCB11	ORPHA:69665
HP:0001732	Abnormality of the pancreas	9971	NR1H4	ORPHA:69665
HP:0001732	Abnormality of the pancreas	2263	FGFR2	ORPHA:1555
HP:0001732	Abnormality of the pancreas	11231	SEC63	ORPHA:2924
HP:0001732	Abnormality of the pancreas	5589	PRKCSH	ORPHA:2924
HP:0001732	Abnormality of the pancreas	4041	LRP5	ORPHA:2924
HP:0001732	Abnormality of the pancreas	3239	HOXD13	ORPHA:887
HP:0001732	Abnormality of the pancreas	4594	MMUT	ORPHA:289916
HP:0001732	Abnormality of the pancreas	4594	MMUT	OMIM:251000
HP:0001732	Abnormality of the pancreas	4594	MMUT	ORPHA:79312
HP:0001732	Abnormality of the pancreas	26160	IFT172	OMIM:619471
HP:0001732	Abnormality of the pancreas	7840	ALMS1	ORPHA:64
HP:0001732	Abnormality of the pancreas	9056	SLC7A7	ORPHA:470
HP:0001732	Abnormality of the pancreas	9056	SLC7A7	OMIM:222700
HP:0001732	Abnormality of the pancreas	1629	DBT	OMIM:248600
HP:0001732	Abnormality of the pancreas	593	BCKDHA	OMIM:248600
HP:0001732	Abnormality of the pancreas	594	BCKDHB	OMIM:248600
HP:0001732	Abnormality of the pancreas	1493	CTLA4	ORPHA:900
HP:0001732	Abnormality of the pancreas	26191	PTPN22	ORPHA:900
HP:0001732	Abnormality of the pancreas	3115	HLA-DPB1	ORPHA:900
HP:0001732	Abnormality of the pancreas	5657	PRTN3	ORPHA:900
HP:0001732	Abnormality of the pancreas	3113	HLA-DPA1	ORPHA:900
HP:0001732	Abnormality of the pancreas	4023	LPL	OMIM:238600
HP:0001732	Abnormality of the pancreas	4210	MEFV	ORPHA:342
HP:0001732	Abnormality of the pancreas	4210	MEFV	ORPHA:117
HP:0001732	Abnormality of the pancreas	5244	ABCB4	ORPHA:69663
HP:0001732	Abnormality of the pancreas	5244	ABCB4	OMIM:600803
HP:0001732	Abnormality of the pancreas	4722	NDUFS3	OMIM:618230
HP:0001732	Abnormality of the pancreas	63924	CIDEC	ORPHA:435651
HP:0001732	Abnormality of the pancreas	50485	SMARCAL1	ORPHA:1830
HP:0001732	Abnormality of the pancreas	10165	SLC25A13	OMIM:603471
HP:0001732	Abnormality of the pancreas	10165	SLC25A13	ORPHA:247585
HP:0001732	Abnormality of the pancreas	3106	HLA-B	ORPHA:36426
HP:0001732	Abnormality of the pancreas	3106	HLA-B	ORPHA:117
HP:0001732	Abnormality of the pancreas	10320	IKZF1	ORPHA:36426
HP:0001732	Abnormality of the pancreas	72	ACTG2	OMIM:155310
HP:0001732	Abnormality of the pancreas	2859	GPR35	ORPHA:171
HP:0001732	Abnormality of the pancreas	10507	SEMA4D	ORPHA:171
HP:0001732	Abnormality of the pancreas	4485	MST1	ORPHA:171
HP:0001732	Abnormality of the pancreas	6925	TCF4	ORPHA:171
HP:0001732	Abnormality of the pancreas	10273	STUB1	ORPHA:412057
HP:0001732	Abnormality of the pancreas	133686	NADK2	ORPHA:431361
HP:0001732	Abnormality of the pancreas	2538	G6PC1	OMIM:232200
HP:0001732	Abnormality of the pancreas	26007	TKFC	OMIM:618805
HP:0001732	Abnormality of the pancreas	5468	PPARG	ORPHA:79083
HP:0001732	Abnormality of the pancreas	875	CBS	OMIM:236200
HP:0001732	Abnormality of the pancreas	5095	PCCA	OMIM:606054
HP:0001732	Abnormality of the pancreas	5096	PCCB	OMIM:606054
HP:0001732	Abnormality of the pancreas	5205	ATP8B1	OMIM:243300
HP:0001732	Abnormality of the pancreas	2778	GNAS	ORPHA:562
HP:0001732	Abnormality of the pancreas	1175	AP2S1	OMIM:600740
HP:0001732	Abnormality of the pancreas	9054	NFS1	OMIM:619386
HP:0001732	Abnormality of the pancreas	64788	LMF1	OMIM:246650
HP:0001732	Abnormality of the pancreas	344	APOC2	OMIM:207750
HP:0001732	Abnormality of the pancreas	2767	GNA11	OMIM:145981
HP:0001732	Abnormality of the pancreas	7388	UQCRH	OMIM:620137
HP:0001732	Abnormality of the pancreas	149233	IL23R	ORPHA:117
HP:0001732	Abnormality of the pancreas	6775	STAT4	ORPHA:117
HP:0001732	Abnormality of the pancreas	3586	IL10	ORPHA:117
HP:0001732	Abnormality of the pancreas	1230	CCR1	ORPHA:117
HP:0001732	Abnormality of the pancreas	355	FAS	ORPHA:117
HP:0001732	Abnormality of the pancreas	3592	IL12A	ORPHA:117
HP:0001732	Abnormality of the pancreas	101928376	IL12A-AS1	ORPHA:117
HP:0001732	Abnormality of the pancreas	7099	TLR4	ORPHA:117
HP:0001732	Abnormality of the pancreas	3459	IFNGR1	ORPHA:117
HP:0001732	Abnormality of the pancreas	720	C4A	ORPHA:117
HP:0001732	Abnormality of the pancreas	337867	UBAC2	ORPHA:117
HP:0001732	Abnormality of the pancreas	51752	ERAP1	ORPHA:117
HP:0001732	Abnormality of the pancreas	8302	KLRC4	ORPHA:117
HP:0001732	Abnormality of the pancreas	9401	RECQL4	OMIM:268400
HP:0001732	Abnormality of the pancreas	23387	SIK3	OMIM:618162
HP:0001732	Abnormality of the pancreas	2294	FOXF1	OMIM:265380
HP:0001732	Abnormality of the pancreas	2294	FOXF1	ORPHA:210122
HP:0001732	Abnormality of the pancreas	2177	FANCD2	OMIM:227646
HP:0001732	Abnormality of the pancreas	473	RERE	OMIM:616975
HP:0001732	Abnormality of the pancreas	473	RERE	ORPHA:1606
HP:0001732	Abnormality of the pancreas	4613	MYCN	OMIM:164280
HP:0001732	Abnormality of the pancreas	9894	TELO2	ORPHA:488642
HP:0001732	Abnormality of the pancreas	5590	PRKCZ	ORPHA:1606
HP:0001732	Abnormality of the pancreas	2563	GABRD	ORPHA:1606
HP:0001732	Abnormality of the pancreas	23013	SPEN	ORPHA:1606
HP:0001732	Abnormality of the pancreas	8510	MMP23B	ORPHA:1606
HP:0001732	Abnormality of the pancreas	7798	LUZP1	ORPHA:1606
HP:0001732	Abnormality of the pancreas	6497	SKI	ORPHA:1606
HP:0001732	Abnormality of the pancreas	10630	PDPN	ORPHA:1606
HP:0001732	Abnormality of the pancreas	3339	HSPG2	ORPHA:1606
HP:0001732	Abnormality of the pancreas	10277	UBE4B	ORPHA:1606
HP:0001732	Abnormality of the pancreas	8514	KCNAB2	ORPHA:1606
HP:0001732	Abnormality of the pancreas	63976	PRDM16	ORPHA:1606
HP:0001732	Abnormality of the pancreas	54897	CASZ1	ORPHA:1606
HP:0001732	Abnormality of the pancreas	3155	HMGCL	ORPHA:20
HP:0001732	Abnormality of the pancreas	100147744	RNU7-1	OMIM:619487
HP:0001732	Abnormality of the pancreas	286053	NSMCE2	OMIM:617253
HP:0001732	Abnormality of the pancreas	4000	LMNA	OMIM:151660
HP:0001732	Abnormality of the pancreas	26580	BSCL2	OMIM:269700
HP:0001732	Abnormality of the pancreas	79415	CYBC1	OMIM:618935
HP:0001732	Abnormality of the pancreas	348	APOE	ORPHA:412
HP:0001732	Abnormality of the pancreas	10555	AGPAT2	OMIM:608594
HP:0001732	Abnormality of the pancreas	51726	DNAJB11	ORPHA:730
HP:0001732	Abnormality of the pancreas	23193	GANAB	ORPHA:730
HP:0001732	Abnormality of the pancreas	5310	PKD1	ORPHA:730
HP:0001732	Abnormality of the pancreas	5311	PKD2	ORPHA:730
HP:0001732	Abnormality of the pancreas	29880	ALG5	ORPHA:730
HP:0001732	Abnormality of the pancreas	9742	IFT140	ORPHA:730
HP:0001732	Abnormality of the pancreas	9742	IFT140	OMIM:266920
HP:0001732	Abnormality of the pancreas	79796	ALG9	ORPHA:730
HP:0001732	Abnormality of the pancreas	80114	BICC1	ORPHA:730
HP:0001732	Abnormality of the pancreas	5314	PKHD1	OMIM:263200
HP:0001732	Abnormality of the pancreas	5314	PKHD1	ORPHA:731
HP:0001732	Abnormality of the pancreas	57728	WDR19	OMIM:614377
HP:0001732	Abnormality of the pancreas	57728	WDR19	OMIM:616307
HP:0001732	Abnormality of the pancreas	9939	RBM8A	OMIM:274000
HP:0001732	Abnormality of the pancreas	199221	DZIP1L	ORPHA:731
HP:0001732	Abnormality of the pancreas	170302	ARX	ORPHA:452
HP:0001732	Abnormality of the pancreas	22827	PUF60	ORPHA:508498
HP:0001732	Abnormality of the pancreas	22827	PUF60	ORPHA:508488
HP:0001732	Abnormality of the pancreas	1497	CTNS	OMIM:219800
HP:0001732	Abnormality of the pancreas	2212	FCGR2A	OMIM:219700
HP:0001732	Abnormality of the pancreas	7040	TGFB1	OMIM:219700
HP:0001732	Abnormality of the pancreas	7040	TGFB1	ORPHA:586
HP:0001732	Abnormality of the pancreas	537	ATP6AP1	OMIM:300972
HP:0001732	Abnormality of the pancreas	7468	NSD2	OMIM:619695
HP:0001732	Abnormality of the pancreas	8565	YARS1	OMIM:619418
HP:0001732	Abnormality of the pancreas	5557	PRIM1	OMIM:620005
HP:0001732	Abnormality of the pancreas	8481	OFD1	ORPHA:2750
HP:0001732	Abnormality of the pancreas	197131	UBR1	ORPHA:2315
HP:0001732	Abnormality of the pancreas	197131	UBR1	OMIM:243800
HP:0001732	Abnormality of the pancreas	6804	STX1A	ORPHA:586
HP:0001732	Abnormality of the pancreas	2947	GSTM3	ORPHA:586
HP:0001732	Abnormality of the pancreas	2729	GCLC	ORPHA:586
HP:0001732	Abnormality of the pancreas	1084	CEACAM3	ORPHA:586
HP:0001732	Abnormality of the pancreas	6556	SLC11A1	ORPHA:586
HP:0001732	Abnormality of the pancreas	51164	DCTN4	ORPHA:586
HP:0001732	Abnormality of the pancreas	3783	KCNN4	ORPHA:586
HP:0001732	Abnormality of the pancreas	4282	MIF	ORPHA:586
HP:0001732	Abnormality of the pancreas	1909	EDNRA	ORPHA:586
HP:0001732	Abnormality of the pancreas	6550	SLC9A3	ORPHA:586
HP:0001732	Abnormality of the pancreas	3162	HMOX1	ORPHA:586
HP:0001732	Abnormality of the pancreas	115019	SLC26A9	ORPHA:586
HP:0001732	Abnormality of the pancreas	3077	HFE	ORPHA:586
HP:0001732	Abnormality of the pancreas	11254	SLC6A14	ORPHA:586
HP:0001732	Abnormality of the pancreas	5265	SERPINA1	ORPHA:586
HP:0001732	Abnormality of the pancreas	22802	CLCA4	ORPHA:586
HP:0001732	Abnormality of the pancreas	4680	CEACAM6	ORPHA:586
HP:0001732	Abnormality of the pancreas	8567	MADD	OMIM:619004
HP:0001732	Abnormality of the pancreas	57570	TRMT5	OMIM:616539
HP:0001732	Abnormality of the pancreas	182	JAG1	OMIM:118450
HP:0001732	Abnormality of the pancreas	84701	COX4I2	OMIM:612714
HP:0001732	Abnormality of the pancreas	8462	KLF11	ORPHA:552
HP:0001732	Abnormality of the pancreas	26060	APPL1	ORPHA:552
HP:0001732	Abnormality of the pancreas	640	BLK	ORPHA:552
HP:0001732	Abnormality of the pancreas	1056	CEL	ORPHA:552
HP:0001732	Abnormality of the pancreas	4760	NEUROD1	ORPHA:552
HP:0001732	Abnormality of the pancreas	6927	HNF1A	ORPHA:552
HP:0001732	Abnormality of the pancreas	55315	SLC29A3	OMIM:602782
HP:0001732	Abnormality of the pancreas	54914	FOCAD	OMIM:619991
HP:0001732	Abnormality of the pancreas	222546	RFX6	OMIM:615710
HP:0001732	Abnormality of the pancreas	169792	GLIS3	OMIM:610199
HP:0001732	Abnormality of the pancreas	51119	SBDS	ORPHA:811
HP:0001732	Abnormality of the pancreas	6729	SRP54	ORPHA:811
HP:0001732	Abnormality of the pancreas	7428	VHL	ORPHA:892
HP:0001732	Abnormality of the pancreas	7428	VHL	OMIM:193300
HP:0001732	Abnormality of the pancreas	595	CCND1	ORPHA:892
HP:0001732	Abnormality of the pancreas	595	CCND1	OMIM:193300
HP:0001732	Abnormality of the pancreas	4854	NOTCH3	ORPHA:2591
HP:0001732	Abnormality of the pancreas	5159	PDGFRB	ORPHA:2591
HP:0001732	Abnormality of the pancreas	324	APC	ORPHA:247806
HP:0001732	Abnormality of the pancreas	324	APC	ORPHA:79665
HP:0001732	Abnormality of the pancreas	4193	MDM2	ORPHA:524
HP:0001732	Abnormality of the pancreas	11200	CHEK2	ORPHA:524
HP:0001732	Abnormality of the pancreas	11200	CHEK2	ORPHA:145
HP:0001732	Abnormality of the pancreas	5892	RAD51D	ORPHA:145
HP:0001732	Abnormality of the pancreas	5728	PTEN	ORPHA:145
HP:0001732	Abnormality of the pancreas	10111	RAD50	ORPHA:145
HP:0001732	Abnormality of the pancreas	580	BARD1	ORPHA:145
HP:0001732	Abnormality of the pancreas	5888	RAD51	ORPHA:145
HP:0001732	Abnormality of the pancreas	4683	NBN	ORPHA:145
HP:0001732	Abnormality of the pancreas	5889	RAD51C	ORPHA:145
HP:0001732	Abnormality of the pancreas	83990	BRIP1	ORPHA:145
HP:0001732	Abnormality of the pancreas	4361	MRE11	ORPHA:145
HP:0001732	Abnormality of the pancreas	2130	EWSR1	ORPHA:83469
HP:0001732	Abnormality of the pancreas	7490	WT1	ORPHA:83469
HP:0001732	Abnormality of the pancreas	80169	CTC1	ORPHA:1775
HP:0001732	Abnormality of the pancreas	26277	TINF2	ORPHA:1775
HP:0001732	Abnormality of the pancreas	55651	NHP2	ORPHA:1775
HP:0001732	Abnormality of the pancreas	79650	USB1	ORPHA:1775
HP:0001732	Abnormality of the pancreas	55135	WRAP53	ORPHA:1775
HP:0001732	Abnormality of the pancreas	51750	RTEL1	ORPHA:1775
HP:0001732	Abnormality of the pancreas	4869	NPM1	ORPHA:1775
HP:0001732	Abnormality of the pancreas	7012	TERC	ORPHA:1775
HP:0001732	Abnormality of the pancreas	55505	NOP10	ORPHA:1775
HP:0001732	Abnormality of the pancreas	5073	PARN	ORPHA:1775
HP:0001732	Abnormality of the pancreas	7015	TERT	ORPHA:1775
HP:0001732	Abnormality of the pancreas	7015	TERT	ORPHA:618
HP:0001732	Abnormality of the pancreas	1736	DKC1	ORPHA:1775
HP:0001732	Abnormality of the pancreas	7298	TYMS	ORPHA:1775
HP:0001732	Abnormality of the pancreas	8314	BAP1	ORPHA:618
HP:0001732	Abnormality of the pancreas	4286	MITF	ORPHA:618
HP:0001732	Abnormality of the pancreas	1019	CDK4	ORPHA:618
HP:0001732	Abnormality of the pancreas	4255	MGMT	ORPHA:618
HP:0001732	Abnormality of the pancreas	54386	TERF2IP	ORPHA:618
HP:0001732	Abnormality of the pancreas	4157	MC1R	ORPHA:618
HP:0001732	Abnormality of the pancreas	65057	ACD	ORPHA:618
HP:0001732	Abnormality of the pancreas	25913	POT1	ORPHA:618
HP:0001732	Abnormality of the pancreas	1188	CLCNKB	ORPHA:358
HP:0001732	Abnormality of the pancreas	6559	SLC12A3	ORPHA:358
HP:0001732	Abnormality of the pancreas	2313	FLI1	ORPHA:370348
HP:0001732	Abnormality of the pancreas	5573	PRKAR1A	ORPHA:1359
HP:0001732	Abnormality of the pancreas	50940	PDE11A	ORPHA:1359
HP:0001732	Abnormality of the pancreas	3930	LBR	OMIM:215140
HP:0001732	Abnormality of the pancreas	6566	SLC16A1	OMIM:610021
HP:0001732	Abnormality of the pancreas	3172	HNF4A	ORPHA:263455
HP:0001732	Abnormality of the pancreas	2719	GPC3	OMIM:312870
HP:0001732	Abnormality of the pancreas	2719	GPC3	ORPHA:373
HP:0001732	Abnormality of the pancreas	2239	GPC4	OMIM:312870
HP:0001732	Abnormality of the pancreas	2239	GPC4	ORPHA:373
HP:0001732	Abnormality of the pancreas	2184	FAH	OMIM:276700
HP:0001732	Abnormality of the pancreas	3643	INSR	OMIM:246200
HP:0001732	Abnormality of the pancreas	5644	PRSS1	ORPHA:676
HP:0001732	Abnormality of the pancreas	5644	PRSS1	OMIM:167800
HP:0001732	Abnormality of the pancreas	5645	PRSS2	ORPHA:676
HP:0001732	Abnormality of the pancreas	5645	PRSS2	OMIM:167800
HP:0001732	Abnormality of the pancreas	846	CASR	ORPHA:676
HP:0001732	Abnormality of the pancreas	1080	CFTR	ORPHA:676
HP:0001732	Abnormality of the pancreas	1080	CFTR	OMIM:167800
HP:0001732	Abnormality of the pancreas	1357	CPA1	ORPHA:676
HP:0001732	Abnormality of the pancreas	5167	ENPP1	ORPHA:51608
HP:0001732	Abnormality of the pancreas	368	ABCC6	ORPHA:51608
HP:0001732	Abnormality of the pancreas	6774	STAT3	ORPHA:99885
HP:0001732	Abnormality of the pancreas	2645	GCK	ORPHA:99885
HP:0001732	Abnormality of the pancreas	3651	PDX1	ORPHA:99885
HP:0001732	Abnormality of the pancreas	3630	INS	ORPHA:99885
HP:0001732	Abnormality of the pancreas	9451	EIF2AK3	OMIM:226980
HP:0001732	Abnormality of the pancreas	79631	EFL1	OMIM:617941
HP:0001732	Abnormality of the pancreas	171023	ASXL1	OMIM:605039
HP:0001732	Abnormality of the pancreas	134218	DNAJC21	OMIM:617052
HP:0001732	Abnormality of the pancreas	27031	NPHP3	OMIM:208540
HP:0001732	Abnormality of the pancreas	1028	CDKN1C	OMIM:130650
HP:0001732	Abnormality of the pancreas	10984	KCNQ1OT1	OMIM:130650
HP:0001732	Abnormality of the pancreas	3481	IGF2	OMIM:130650
HP:0001732	Abnormality of the pancreas	3784	KCNQ1	OMIM:130650
HP:0001732	Abnormality of the pancreas	5078	PAX4	OMIM:612227
HP:0001732	Abnormality of the pancreas	57104	PNPLA2	ORPHA:98908
HP:0001732	Abnormality of the pancreas	63929	XPNPEP3	OMIM:613159
HP:0001732	Abnormality of the pancreas	2710	GK	OMIM:307030
HP:0001732	Abnormality of the pancreas	7528	YY1	ORPHA:97279
HP:0001732	Abnormality of the pancreas	2746	GLUD1	OMIM:606762
HP:0001732	Abnormality of the pancreas	23022	PALLD	OMIM:606856
HP:0001732	Abnormality of the pancreas	23022	PALLD	ORPHA:1333
HP:0001732	Abnormality of the pancreas	4072	EPCAM	ORPHA:144
HP:0001732	Abnormality of the pancreas	4292	MLH1	ORPHA:144
HP:0001732	Abnormality of the pancreas	5395	PMS2	ORPHA:144
HP:0001732	Abnormality of the pancreas	27030	MLH3	ORPHA:144
HP:0001732	Abnormality of the pancreas	22909	FAN1	ORPHA:144
HP:0001732	Abnormality of the pancreas	7048	TGFBR2	ORPHA:144
HP:0001732	Abnormality of the pancreas	3845	KRAS	ORPHA:144
HP:0001732	Abnormality of the pancreas	3845	KRAS	ORPHA:1333
HP:0001732	Abnormality of the pancreas	5290	PIK3CA	ORPHA:144
HP:0001732	Abnormality of the pancreas	2956	MSH6	ORPHA:144
HP:0001732	Abnormality of the pancreas	5378	PMS1	ORPHA:144
HP:0001732	Abnormality of the pancreas	4436	MSH2	ORPHA:144
HP:0001732	Abnormality of the pancreas	79577	CDC73	ORPHA:143
HP:0001732	Abnormality of the pancreas	79577	CDC73	ORPHA:99880
HP:0001732	Abnormality of the pancreas	79577	CDC73	OMIM:145001
HP:0001732	Abnormality of the pancreas	11330	CTRC	ORPHA:103918
HP:0001732	Abnormality of the pancreas	6690	SPINK1	ORPHA:103918
HP:0001732	Abnormality of the pancreas	54894	RNF43	ORPHA:157798
HP:0001732	Abnormality of the pancreas	285282	RABL3	OMIM:618680
HP:0001732	Abnormality of the pancreas	285282	RABL3	ORPHA:1333
HP:0001732	Abnormality of the pancreas	4913	NTHL1	ORPHA:454840
HP:0001732	Abnormality of the pancreas	4913	NTHL1	OMIM:616415
HP:0001732	Abnormality of the pancreas	1029	CDKN2A	OMIM:606719
HP:0001732	Abnormality of the pancreas	1029	CDKN2A	ORPHA:1333
HP:0001732	Abnormality of the pancreas	64218	SEMA4A	ORPHA:440437
HP:0001732	Abnormality of the pancreas	657	BMPR1A	ORPHA:440437
HP:0001732	Abnormality of the pancreas	6224	RPS20	ORPHA:440437
HP:0001732	Abnormality of the pancreas	672	BRCA1	ORPHA:1333
HP:0001732	Abnormality of the pancreas	7157	TP53	ORPHA:1333
HP:0001732	Abnormality of the pancreas	675	BRCA2	ORPHA:1333
HP:0001732	Abnormality of the pancreas	79728	PALB2	ORPHA:1333
HP:0001732	Abnormality of the pancreas	4089	SMAD4	ORPHA:1333
HP:0001732	Abnormality of the pancreas	6794	STK11	ORPHA:2869
HP:0001732	Abnormality of the pancreas	7373	COL14A1	ORPHA:79501
HP:0001732	Abnormality of the pancreas	79719	AAGAB	ORPHA:79501
HP:0001732	Abnormality of the pancreas	389692	MAFA	OMIM:147630
HP:0001732	Abnormality of the pancreas	1356	CP	ORPHA:48818
HP:0001732	Abnormality of the pancreas	129563	DIS3L2	ORPHA:2849
HP:0001732	Abnormality of the pancreas	6338	SCNN1B	OMIM:211400
HP:0001732	Abnormality of the pancreas	6337	SCNN1A	OMIM:613021
HP:0001732	Abnormality of the pancreas	57817	HAMP	ORPHA:79230
HP:0001732	Abnormality of the pancreas	148738	HJV	ORPHA:79230
HP:0001732	Abnormality of the pancreas	23476	BRD4	ORPHA:443167
HP:0001732	Abnormality of the pancreas	256646	NUTM1	ORPHA:443167
HP:0001732	Abnormality of the pancreas	4221	MEN1	ORPHA:652
HP:0001732	Abnormality of the pancreas	4221	MEN1	OMIM:131100
HP:0001732	Abnormality of the pancreas	1027	CDKN1B	ORPHA:652
HP:0001732	Abnormality of the pancreas	1027	CDKN1B	ORPHA:276152
HP:0001732	Abnormality of the pancreas	1026	CDKN1A	ORPHA:652
HP:0001732	Abnormality of the pancreas	1030	CDKN2B	ORPHA:652
HP:0001732	Abnormality of the pancreas	1031	CDKN2C	ORPHA:652
HP:0001732	Abnormality of the pancreas	2317	FLNB	ORPHA:1190
HP:0001732	Abnormality of the pancreas	6833	ABCC8	ORPHA:276575
HP:0001732	Abnormality of the pancreas	3767	KCNJ11	ORPHA:79644
HP:0001732	Abnormality of the pancreas	7351	UCP2	ORPHA:276556
HP:0001732	Abnormality of the pancreas	26040	SETBP1	OMIM:269150
HP:0001732	Abnormality of the pancreas	857	CAV1	OMIM:606721
HP:0001732	Abnormality of the pancreas	4558	MT-TF	ORPHA:550
HP:0001732	Abnormality of the pancreas	4572	MT-TQ	ORPHA:550
HP:0001732	Abnormality of the pancreas	4512	MT-CO1	ORPHA:550
HP:0001732	Abnormality of the pancreas	4513	MT-CO2	ORPHA:550
HP:0001732	Abnormality of the pancreas	4514	MT-CO3	ORPHA:550
HP:0001732	Abnormality of the pancreas	4578	MT-TW	ORPHA:550
HP:0001732	Abnormality of the pancreas	4540	MT-ND5	ORPHA:550
HP:0001732	Abnormality of the pancreas	4541	MT-ND6	ORPHA:550
HP:0001732	Abnormality of the pancreas	4535	MT-ND1	ORPHA:550
HP:0001732	Abnormality of the pancreas	4538	MT-ND4	ORPHA:550
HP:0001732	Abnormality of the pancreas	4567	MT-TL1	ORPHA:550
HP:0001732	Abnormality of the pancreas	4574	MT-TS1	ORPHA:550
HP:0001732	Abnormality of the pancreas	4575	MT-TS2	ORPHA:550
HP:0001732	Abnormality of the pancreas	4564	MT-TH	ORPHA:550
HP:0001732	Abnormality of the pancreas	2642	GCGR	OMIM:619290
HP:0001732	Abnormality of the pancreas	57003	CCDC47	OMIM:618268
HP:0001732	Abnormality of the pancreas	338328	GPIHBP1	OMIM:615947
HP:0001732	Abnormality of the pancreas	84314	TMEM107	ORPHA:564
HP:0001732	Abnormality of the pancreas	26123	TCTN3	ORPHA:564
HP:0001732	Abnormality of the pancreas	79867	TCTN2	ORPHA:564
HP:0001732	Abnormality of the pancreas	80776	B9D2	ORPHA:564
HP:0001732	Abnormality of the pancreas	79600	TCTN1	ORPHA:564
HP:0001732	Abnormality of the pancreas	57096	RPGRIP1	ORPHA:564
HP:0001732	Abnormality of the pancreas	79848	CSPP1	ORPHA:564
HP:0001732	Abnormality of the pancreas	80184	CEP290	ORPHA:564
HP:0001732	Abnormality of the pancreas	51259	TMEM216	ORPHA:564
HP:0001732	Abnormality of the pancreas	57545	CC2D2A	ORPHA:564
HP:0001732	Abnormality of the pancreas	79583	TMEM231	ORPHA:564
HP:0001732	Abnormality of the pancreas	91147	TMEM67	ORPHA:564
HP:0001732	Abnormality of the pancreas	79770	TXNDC15	ORPHA:564
HP:0001732	Abnormality of the pancreas	27077	B9D1	ORPHA:564
HP:0001732	Abnormality of the pancreas	23322	RPGRIP1L	ORPHA:564
HP:0001732	Abnormality of the pancreas	54903	MKS1	ORPHA:564
HP:0001732	Abnormality of the pancreas	65062	TMEM237	ORPHA:564
HP:0001732	Abnormality of the pancreas	55112	DYNC2I1	OMIM:615503
HP:0001732	Abnormality of the pancreas	2542	SLC37A4	OMIM:232220
HP:0001732	Abnormality of the pancreas	4750	NEK1	OMIM:263520
HP:0001732	Abnormality of the pancreas	51651	PTRH2	ORPHA:456312
HP:0001732	Abnormality of the pancreas	64220	STRA6	ORPHA:2470
HP:0001732	Abnormality of the pancreas	5915	RARB	ORPHA:2470
HP:0001732	Abnormality of the pancreas	6928	HNF1B	ORPHA:93111
HP:0001732	Abnormality of the pancreas	256297	PTF1A	ORPHA:65288
HP:0001732	Abnormality of the pancreas	2627	GATA6	ORPHA:2255
HP:0001732	Abnormality of the pancreas	23019	CNOT1	ORPHA:556955
HP:0001732	Abnormality of the pancreas	23019	CNOT1	OMIM:618500
HP:0001732	Abnormality of the pancreas	3975	LHX1	ORPHA:261265
HP:0001733	Pancreatitis	4594	MMUT	ORPHA:289916
HP:0001733	Pancreatitis	4594	MMUT	OMIM:251000
HP:0001733	Pancreatitis	4594	MMUT	ORPHA:79312
HP:0001733	Pancreatitis	26160	IFT172	OMIM:619471
HP:0001733	Pancreatitis	7840	ALMS1	ORPHA:64
HP:0001733	Pancreatitis	9056	SLC7A7	ORPHA:470
HP:0001733	Pancreatitis	9056	SLC7A7	OMIM:222700
HP:0001733	Pancreatitis	1629	DBT	OMIM:248600
HP:0001733	Pancreatitis	593	BCKDHA	OMIM:248600
HP:0001733	Pancreatitis	594	BCKDHB	OMIM:248600
HP:0001733	Pancreatitis	1493	CTLA4	ORPHA:900
HP:0001733	Pancreatitis	26191	PTPN22	ORPHA:900
HP:0001733	Pancreatitis	3115	HLA-DPB1	ORPHA:900
HP:0001733	Pancreatitis	5657	PRTN3	ORPHA:900
HP:0001733	Pancreatitis	3113	HLA-DPA1	ORPHA:900
HP:0001733	Pancreatitis	4023	LPL	OMIM:238600
HP:0001733	Pancreatitis	4210	MEFV	ORPHA:342
HP:0001733	Pancreatitis	4210	MEFV	ORPHA:117
HP:0001733	Pancreatitis	5244	ABCB4	ORPHA:69663
HP:0001733	Pancreatitis	5244	ABCB4	OMIM:600803
HP:0001733	Pancreatitis	4722	NDUFS3	OMIM:618230
HP:0001733	Pancreatitis	63924	CIDEC	ORPHA:435651
HP:0001733	Pancreatitis	50485	SMARCAL1	ORPHA:1830
HP:0001733	Pancreatitis	50940	PDE11A	OMIM:610475
HP:0001733	Pancreatitis	10165	SLC25A13	OMIM:603471
HP:0001733	Pancreatitis	10165	SLC25A13	ORPHA:247585
HP:0001733	Pancreatitis	2212	FCGR2A	OMIM:219700
HP:0001733	Pancreatitis	7040	TGFB1	OMIM:219700
HP:0001733	Pancreatitis	3106	HLA-B	ORPHA:36426
HP:0001733	Pancreatitis	3106	HLA-B	ORPHA:117
HP:0001733	Pancreatitis	10320	IKZF1	ORPHA:36426
HP:0001733	Pancreatitis	72	ACTG2	OMIM:155310
HP:0001733	Pancreatitis	2859	GPR35	ORPHA:171
HP:0001733	Pancreatitis	10507	SEMA4D	ORPHA:171
HP:0001733	Pancreatitis	4485	MST1	ORPHA:171
HP:0001733	Pancreatitis	6925	TCF4	ORPHA:171
HP:0001733	Pancreatitis	10273	STUB1	ORPHA:412057
HP:0001733	Pancreatitis	133686	NADK2	ORPHA:431361
HP:0001733	Pancreatitis	2538	G6PC1	OMIM:232200
HP:0001733	Pancreatitis	26007	TKFC	OMIM:618805
HP:0001733	Pancreatitis	5468	PPARG	ORPHA:79083
HP:0001733	Pancreatitis	875	CBS	OMIM:236200
HP:0001733	Pancreatitis	5095	PCCA	OMIM:606054
HP:0001733	Pancreatitis	5096	PCCB	OMIM:606054
HP:0001733	Pancreatitis	5205	ATP8B1	OMIM:243300
HP:0001733	Pancreatitis	2778	GNAS	ORPHA:562
HP:0001733	Pancreatitis	1175	AP2S1	OMIM:600740
HP:0001733	Pancreatitis	9054	NFS1	OMIM:619386
HP:0001733	Pancreatitis	64788	LMF1	OMIM:246650
HP:0001733	Pancreatitis	344	APOC2	OMIM:207750
HP:0001733	Pancreatitis	2767	GNA11	OMIM:145981
HP:0001733	Pancreatitis	7388	UQCRH	OMIM:620137
HP:0001733	Pancreatitis	2313	FLI1	ORPHA:370348
HP:0001733	Pancreatitis	149233	IL23R	ORPHA:117
HP:0001733	Pancreatitis	6775	STAT4	ORPHA:117
HP:0001733	Pancreatitis	3586	IL10	ORPHA:117
HP:0001733	Pancreatitis	1230	CCR1	ORPHA:117
HP:0001733	Pancreatitis	355	FAS	ORPHA:117
HP:0001733	Pancreatitis	3592	IL12A	ORPHA:117
HP:0001733	Pancreatitis	101928376	IL12A-AS1	ORPHA:117
HP:0001733	Pancreatitis	7099	TLR4	ORPHA:117
HP:0001733	Pancreatitis	3459	IFNGR1	ORPHA:117
HP:0001733	Pancreatitis	720	C4A	ORPHA:117
HP:0001733	Pancreatitis	337867	UBAC2	ORPHA:117
HP:0001733	Pancreatitis	51752	ERAP1	ORPHA:117
HP:0001733	Pancreatitis	8302	KLRC4	ORPHA:117
HP:0001733	Pancreatitis	3155	HMGCL	ORPHA:20
HP:0001733	Pancreatitis	100147744	RNU7-1	OMIM:619487
HP:0001733	Pancreatitis	286053	NSMCE2	OMIM:617253
HP:0001733	Pancreatitis	4000	LMNA	OMIM:151660
HP:0001733	Pancreatitis	26580	BSCL2	OMIM:269700
HP:0001733	Pancreatitis	79415	CYBC1	OMIM:618935
HP:0001733	Pancreatitis	348	APOE	ORPHA:412
HP:0001733	Pancreatitis	10555	AGPAT2	OMIM:608594
HP:0001733	Pancreatitis	11330	CTRC	ORPHA:103918
HP:0001733	Pancreatitis	57104	PNPLA2	ORPHA:98908
HP:0001733	Pancreatitis	63929	XPNPEP3	OMIM:613159
HP:0001733	Pancreatitis	2710	GK	OMIM:307030
HP:0001733	Pancreatitis	6690	SPINK1	OMIM:608189
HP:0001733	Pancreatitis	2542	SLC37A4	OMIM:232240
HP:0001733	Pancreatitis	79577	CDC73	OMIM:145001
HP:0001733	Pancreatitis	857	CAV1	OMIM:606721
HP:0001733	Pancreatitis	4558	MT-TF	ORPHA:550
HP:0001733	Pancreatitis	4572	MT-TQ	ORPHA:550
HP:0001733	Pancreatitis	4512	MT-CO1	ORPHA:550
HP:0001733	Pancreatitis	4513	MT-CO2	ORPHA:550
HP:0001733	Pancreatitis	4514	MT-CO3	ORPHA:550
HP:0001733	Pancreatitis	4578	MT-TW	ORPHA:550
HP:0001733	Pancreatitis	4540	MT-ND5	ORPHA:550
HP:0001733	Pancreatitis	4541	MT-ND6	ORPHA:550
HP:0001733	Pancreatitis	4535	MT-ND1	ORPHA:550
HP:0001733	Pancreatitis	4538	MT-ND4	ORPHA:550
HP:0001733	Pancreatitis	4567	MT-TL1	ORPHA:550
HP:0001733	Pancreatitis	4574	MT-TS1	ORPHA:550
HP:0001733	Pancreatitis	4575	MT-TS2	ORPHA:550
HP:0001733	Pancreatitis	4564	MT-TH	ORPHA:550
HP:0001733	Pancreatitis	2642	GCGR	OMIM:619290
HP:0001733	Pancreatitis	57003	CCDC47	OMIM:618268
HP:0001733	Pancreatitis	338328	GPIHBP1	OMIM:615947
HP:0001733	Pancreatitis	5644	PRSS1	ORPHA:676
HP:0001733	Pancreatitis	5645	PRSS2	ORPHA:676
HP:0001733	Pancreatitis	846	CASR	ORPHA:676
HP:0001733	Pancreatitis	1080	CFTR	ORPHA:676
HP:0001733	Pancreatitis	1357	CPA1	ORPHA:676
HP:0001734	Annular pancreas	9401	RECQL4	OMIM:268400
HP:0001734	Annular pancreas	23387	SIK3	OMIM:618162
HP:0001734	Annular pancreas	2294	FOXF1	OMIM:265380
HP:0001734	Annular pancreas	2294	FOXF1	ORPHA:210122
HP:0001734	Annular pancreas	2177	FANCD2	OMIM:227646
HP:0001734	Annular pancreas	171023	ASXL1	ORPHA:97297
HP:0001734	Annular pancreas	64220	STRA6	ORPHA:2470
HP:0001734	Annular pancreas	5915	RARB	ORPHA:2470
HP:0001734	Annular pancreas	473	RERE	OMIM:616975
HP:0001734	Annular pancreas	473	RERE	ORPHA:1606
HP:0001734	Annular pancreas	222546	RFX6	OMIM:615710
HP:0001734	Annular pancreas	4613	MYCN	OMIM:164280
HP:0001734	Annular pancreas	9894	TELO2	ORPHA:488642
HP:0001734	Annular pancreas	5590	PRKCZ	ORPHA:1606
HP:0001734	Annular pancreas	2563	GABRD	ORPHA:1606
HP:0001734	Annular pancreas	23013	SPEN	ORPHA:1606
HP:0001734	Annular pancreas	8510	MMP23B	ORPHA:1606
HP:0001734	Annular pancreas	7798	LUZP1	ORPHA:1606
HP:0001734	Annular pancreas	6497	SKI	ORPHA:1606
HP:0001734	Annular pancreas	10630	PDPN	ORPHA:1606
HP:0001734	Annular pancreas	3339	HSPG2	ORPHA:1606
HP:0001734	Annular pancreas	10277	UBE4B	ORPHA:1606
HP:0001734	Annular pancreas	8514	KCNAB2	ORPHA:1606
HP:0001734	Annular pancreas	63976	PRDM16	ORPHA:1606
HP:0001734	Annular pancreas	54897	CASZ1	ORPHA:1606
HP:0001734	Annular pancreas	2313	FLI1	ORPHA:2308
HP:0001734	Annular pancreas	26040	SETBP1	ORPHA:798
HP:0001735	Acute pancreatitis	3155	HMGCL	ORPHA:20
HP:0001735	Acute pancreatitis	100147744	RNU7-1	OMIM:619487
HP:0001735	Acute pancreatitis	286053	NSMCE2	OMIM:617253
HP:0001735	Acute pancreatitis	4000	LMNA	OMIM:151660
HP:0001735	Acute pancreatitis	26580	BSCL2	OMIM:269700
HP:0001735	Acute pancreatitis	79415	CYBC1	OMIM:618935
HP:0001735	Acute pancreatitis	348	APOE	ORPHA:412
HP:0001735	Acute pancreatitis	10555	AGPAT2	OMIM:608594
HP:0001737	Pancreatic cysts	7428	VHL	ORPHA:892
HP:0001737	Pancreatic cysts	7428	VHL	OMIM:193300
HP:0001737	Pancreatic cysts	595	CCND1	ORPHA:892
HP:0001737	Pancreatic cysts	595	CCND1	OMIM:193300
HP:0001737	Pancreatic cysts	51726	DNAJB11	ORPHA:730
HP:0001737	Pancreatic cysts	23193	GANAB	ORPHA:730
HP:0001737	Pancreatic cysts	5310	PKD1	ORPHA:730
HP:0001737	Pancreatic cysts	5311	PKD2	ORPHA:730
HP:0001737	Pancreatic cysts	29880	ALG5	ORPHA:730
HP:0001737	Pancreatic cysts	9742	IFT140	ORPHA:730
HP:0001737	Pancreatic cysts	9742	IFT140	OMIM:266920
HP:0001737	Pancreatic cysts	79796	ALG9	ORPHA:730
HP:0001737	Pancreatic cysts	80114	BICC1	ORPHA:730
HP:0001737	Pancreatic cysts	84314	TMEM107	ORPHA:564
HP:0001737	Pancreatic cysts	26123	TCTN3	ORPHA:564
HP:0001737	Pancreatic cysts	79867	TCTN2	ORPHA:564
HP:0001737	Pancreatic cysts	80776	B9D2	ORPHA:564
HP:0001737	Pancreatic cysts	79600	TCTN1	ORPHA:564
HP:0001737	Pancreatic cysts	57096	RPGRIP1	ORPHA:564
HP:0001737	Pancreatic cysts	79848	CSPP1	ORPHA:564
HP:0001737	Pancreatic cysts	80184	CEP290	ORPHA:564
HP:0001737	Pancreatic cysts	51259	TMEM216	ORPHA:564
HP:0001737	Pancreatic cysts	57545	CC2D2A	ORPHA:564
HP:0001737	Pancreatic cysts	79583	TMEM231	ORPHA:564
HP:0001737	Pancreatic cysts	91147	TMEM67	ORPHA:564
HP:0001737	Pancreatic cysts	79770	TXNDC15	ORPHA:564
HP:0001737	Pancreatic cysts	27077	B9D1	ORPHA:564
HP:0001737	Pancreatic cysts	23322	RPGRIP1L	ORPHA:564
HP:0001737	Pancreatic cysts	54903	MKS1	ORPHA:564
HP:0001737	Pancreatic cysts	65062	TMEM237	ORPHA:564
HP:0001737	Pancreatic cysts	27031	NPHP3	OMIM:267010
HP:0001737	Pancreatic cysts	27031	NPHP3	OMIM:208540
HP:0001737	Pancreatic cysts	5314	PKHD1	OMIM:263200
HP:0001737	Pancreatic cysts	5314	PKHD1	ORPHA:731
HP:0001737	Pancreatic cysts	57728	WDR19	OMIM:614377
HP:0001737	Pancreatic cysts	57728	WDR19	OMIM:616307
HP:0001737	Pancreatic cysts	169792	GLIS3	OMIM:610199
HP:0001737	Pancreatic cysts	8481	OFD1	OMIM:311200
HP:0001737	Pancreatic cysts	8481	OFD1	ORPHA:2750
HP:0001737	Pancreatic cysts	63929	XPNPEP3	OMIM:613159
HP:0001737	Pancreatic cysts	9939	RBM8A	OMIM:274000
HP:0001737	Pancreatic cysts	199221	DZIP1L	ORPHA:731
HP:0001739	Abnormal nasopharynx morphology	2697	GJA1	OMIM:218400
HP:0001739	Abnormal nasopharynx morphology	6469	SHH	OMIM:147250
HP:0001739	Abnormal nasopharynx morphology	4281	MID1	OMIM:300000
HP:0001739	Abnormal nasopharynx morphology	26040	SETBP1	OMIM:269150
HP:0001739	Abnormal nasopharynx morphology	57167	SALL4	OMIM:607323
HP:0001739	Abnormal nasopharynx morphology	8626	TP63	OMIM:604292
HP:0001739	Abnormal nasopharynx morphology	100	ADA	ORPHA:277
HP:0001739	Abnormal nasopharynx morphology	83483	PLVAP	OMIM:618183
HP:0001739	Abnormal nasopharynx morphology	6448	SGSH	OMIM:252900
HP:0001739	Abnormal nasopharynx morphology	23394	ADNP	ORPHA:404448
HP:0001739	Abnormal nasopharynx morphology	4860	PNP	OMIM:613179
HP:0001739	Abnormal nasopharynx morphology	3932	LCK	OMIM:615758
HP:0001739	Abnormal nasopharynx morphology	411	ARSB	OMIM:253200
HP:0001739	Abnormal nasopharynx morphology	114803	MYSM1	ORPHA:508542
HP:0001739	Abnormal nasopharynx morphology	3718	JAK3	OMIM:600802
HP:0001739	Abnormal nasopharynx morphology	6809	STX3	OMIM:619446
HP:0001739	Abnormal nasopharynx morphology	11151	CORO1A	OMIM:615401
HP:0001739	Abnormal nasopharynx morphology	57465	TBC1D24	ORPHA:352596
HP:0001739	Abnormal nasopharynx morphology	10525	HYOU1	OMIM:233600
HP:0001739	Abnormal nasopharynx morphology	3952	LEP	ORPHA:66628
HP:0001739	Abnormal nasopharynx morphology	3952	LEP	OMIM:614962
HP:0001739	Abnormal nasopharynx morphology	6662	SOX9	OMIM:114290
HP:0001739	Abnormal nasopharynx morphology	427	ASAH1	ORPHA:333
HP:0001739	Abnormal nasopharynx morphology	25839	COG4	ORPHA:263501
HP:0001739	Abnormal nasopharynx morphology	4784	NFIX	OMIM:602535
HP:0001739	Abnormal nasopharynx morphology	1493	CTLA4	OMIM:616100
HP:0001739	Abnormal nasopharynx morphology	7852	CXCR4	OMIM:193670
HP:0001739	Abnormal nasopharynx morphology	7852	CXCR4	ORPHA:51636
HP:0001739	Abnormal nasopharynx morphology	6597	SMARCA4	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6598	SMARCB1	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6659	SOX4	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	8289	ARID1A	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	5977	DPF2	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6601	SMARCC2	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6602	SMARCD1	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	57492	ARID1B	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	196528	ARID2	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6605	SMARCE1	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	6664	SOX11	ORPHA:1465
HP:0001739	Abnormal nasopharynx morphology	92579	G6PC3	OMIM:612541
HP:0001739	Abnormal nasopharynx morphology	5631	PRPS1	ORPHA:1187
HP:0001739	Abnormal nasopharynx morphology	5631	PRPS1	OMIM:301835
HP:0001739	Abnormal nasopharynx morphology	5426	POLE	OMIM:615139
HP:0001739	Abnormal nasopharynx morphology	3953	LEPR	OMIM:614963
HP:0001739	Abnormal nasopharynx morphology	3953	LEPR	ORPHA:179494
HP:0001739	Abnormal nasopharynx morphology	8456	FOXN1	OMIM:618806
HP:0001739	Abnormal nasopharynx morphology	146206	CARMIL2	OMIM:618131
HP:0001739	Abnormal nasopharynx morphology	2720	GLB1	OMIM:253010
HP:0001739	Abnormal nasopharynx morphology	6772	STAT1	ORPHA:391487
HP:0001739	Abnormal nasopharynx morphology	10043	TOM1	ORPHA:391487
HP:0001739	Abnormal nasopharynx morphology	3572	IL6ST	OMIM:619752
HP:0001739	Abnormal nasopharynx morphology	3852	KRT5	OMIM:619599
HP:0001739	Abnormal nasopharynx morphology	1387	CREBBP	OMIM:180849
HP:0001739	Abnormal nasopharynx morphology	1387	CREBBP	OMIM:618332
HP:0001739	Abnormal nasopharynx morphology	2033	EP300	OMIM:180849
HP:0001739	Abnormal nasopharynx morphology	2033	EP300	OMIM:618333
HP:0001739	Abnormal nasopharynx morphology	4261	CIITA	OMIM:209920
HP:0001739	Abnormal nasopharynx morphology	5994	RFXAP	OMIM:209920
HP:0001739	Abnormal nasopharynx morphology	5993	RFX5	OMIM:209920
HP:0001739	Abnormal nasopharynx morphology	8625	RFXANK	OMIM:209920
HP:0001739	Abnormal nasopharynx morphology	2588	GALNS	OMIM:253000
HP:0001739	Abnormal nasopharynx morphology	6774	STAT3	OMIM:615952
HP:0001739	Abnormal nasopharynx morphology	5295	PIK3R1	OMIM:616005
HP:0001739	Abnormal nasopharynx morphology	9841	ZBTB24	OMIM:614069
HP:0001739	Abnormal nasopharynx morphology	920	CD4	OMIM:619238
HP:0001739	Abnormal nasopharynx morphology	3570	IL6R	OMIM:618944
HP:0001739	Abnormal nasopharynx morphology	3575	IL7R	ORPHA:169154
HP:0001739	Abnormal nasopharynx morphology	51360	MBTPS2	OMIM:308205
HP:0001739	Abnormal nasopharynx morphology	27086	FOXP1	ORPHA:391372
HP:0001739	Abnormal nasopharynx morphology	8481	OFD1	OMIM:300209
HP:0001739	Abnormal nasopharynx morphology	5971	RELB	OMIM:617585
HP:0001739	Abnormal nasopharynx morphology	79803	HPS6	OMIM:614075
HP:0001739	Abnormal nasopharynx morphology	641	BLM	OMIM:210900
HP:0001739	Abnormal nasopharynx morphology	5340	PLG	OMIM:217090
HP:0001739	Abnormal nasopharynx morphology	2799	GNS	OMIM:252940
HP:0001739	Abnormal nasopharynx morphology	8242	KDM5C	OMIM:300534
HP:0001739	Abnormal nasopharynx morphology	23247	KATNIP	OMIM:616784
HP:0001739	Abnormal nasopharynx morphology	2990	GUSB	OMIM:253220
HP:0001739	Abnormal nasopharynx morphology	138050	HGSNAT	OMIM:252930
HP:0001739	Abnormal nasopharynx morphology	3514	IGKC	ORPHA:183675
HP:0001739	Abnormal nasopharynx morphology	3501	IGHG2	ORPHA:183675
HP:0001739	Abnormal nasopharynx morphology	2542	SLC37A4	OMIM:232240
HP:0001739	Abnormal nasopharynx morphology	55023	PHIP	ORPHA:589905
HP:0001739	Abnormal nasopharynx morphology	2302	FOXJ1	OMIM:618699
HP:0001739	Abnormal nasopharynx morphology	7388	UQCRH	OMIM:620137
HP:0001739	Abnormal nasopharynx morphology	9138	ARHGEF1	OMIM:618459
HP:0001739	Abnormal nasopharynx morphology	4669	NAGLU	OMIM:252920
HP:0001739	Abnormal nasopharynx morphology	54808	DYM	ORPHA:239
HP:0001739	Abnormal nasopharynx morphology	27019	DNAI1	OMIM:244400
HP:0001739	Abnormal nasopharynx morphology	6595	SMARCA2	OMIM:619293
HP:0001739	Abnormal nasopharynx morphology	6103	RPGR	OMIM:300455
HP:0001739	Abnormal nasopharynx morphology	4683	NBN	OMIM:251260
HP:0001739	Abnormal nasopharynx morphology	2622	GAS8	OMIM:616726
HP:0001739	Abnormal nasopharynx morphology	3588	IL10RB	OMIM:612567
HP:0001739	Abnormal nasopharynx morphology	6890	TAP1	OMIM:604571
HP:0001739	Abnormal nasopharynx morphology	6891	TAP2	OMIM:604571
HP:0001739	Abnormal nasopharynx morphology	6892	TAPBP	OMIM:604571
HP:0001739	Abnormal nasopharynx morphology	3561	IL2RG	OMIM:312863
HP:0001739	Abnormal nasopharynx morphology	974	CD79B	OMIM:612692
HP:0001739	Abnormal nasopharynx morphology	472	ATM	OMIM:208900
HP:0001739	Abnormal nasopharynx morphology	973	CD79A	OMIM:613501
HP:0001739	Abnormal nasopharynx morphology	8742	TNFSF12	ORPHA:1572
HP:0001739	Abnormal nasopharynx morphology	931	MS4A1	ORPHA:1572
HP:0001739	Abnormal nasopharynx morphology	975	CD81	ORPHA:1572
HP:0001739	Abnormal nasopharynx morphology	6901	TAFAZZIN	OMIM:302060
HP:0001739	Abnormal nasopharynx morphology	79158	GNPTAB	OMIM:252500
HP:0001739	Abnormal nasopharynx morphology	374407	DNAJB13	OMIM:617091
HP:0001739	Abnormal nasopharynx morphology	139212	DNAAF6	OMIM:300991
HP:0001739	Abnormal nasopharynx morphology	7840	ALMS1	ORPHA:64
HP:0001739	Abnormal nasopharynx morphology	30011	SH3KBP1	OMIM:300310
HP:0001739	Abnormal nasopharynx morphology	7454	WAS	OMIM:301000
HP:0001739	Abnormal nasopharynx morphology	4791	NFKB2	ORPHA:293978
HP:0001739	Abnormal nasopharynx morphology	4791	NFKB2	OMIM:615577
HP:0001739	Abnormal nasopharynx morphology	695	BTK	OMIM:300755
HP:0001739	Abnormal nasopharynx morphology	930	CD19	OMIM:613493
HP:0001739	Abnormal nasopharynx morphology	930	CD19	OMIM:240500
HP:0001739	Abnormal nasopharynx morphology	152110	NEK10	OMIM:618781
HP:0001739	Abnormal nasopharynx morphology	115650	TNFRSF13C	OMIM:613494
HP:0001739	Abnormal nasopharynx morphology	115650	TNFRSF13C	OMIM:240500
HP:0001739	Abnormal nasopharynx morphology	5580	PRKCD	OMIM:615559
HP:0001739	Abnormal nasopharynx morphology	27148	STK36	OMIM:619436
HP:0001739	Abnormal nasopharynx morphology	5880	RAC2	OMIM:618986
HP:0001739	Abnormal nasopharynx morphology	64446	DNAI2	OMIM:612444
HP:0001739	Abnormal nasopharynx morphology	987	LRBA	OMIM:614700
HP:0001739	Abnormal nasopharynx morphology	3426	CFI	OMIM:610984
HP:0001739	Abnormal nasopharynx morphology	54440	SASH3	OMIM:301082
HP:0001739	Abnormal nasopharynx morphology	345895	RSPH4A	OMIM:612649
HP:0001739	Abnormal nasopharynx morphology	54499	TMCO1	OMIM:213980
HP:0001739	Abnormal nasopharynx morphology	9094	UNC119	OMIM:615518
HP:0001739	Abnormal nasopharynx morphology	79650	USB1	OMIM:604173
HP:0001739	Abnormal nasopharynx morphology	5293	PIK3CD	OMIM:619281
HP:0001739	Abnormal nasopharynx morphology	3507	IGHM	OMIM:601495
HP:0001739	Abnormal nasopharynx morphology	54768	HYDIN	OMIM:608647
HP:0001739	Abnormal nasopharynx morphology	89765	RSPH1	OMIM:615481
HP:0001739	Abnormal nasopharynx morphology	161582	DNAAF4	OMIM:615482
HP:0001739	Abnormal nasopharynx morphology	1289	COL5A1	OMIM:130000
HP:0001739	Abnormal nasopharynx morphology	4256	MGP	ORPHA:85202
HP:0001739	Abnormal nasopharynx morphology	6813	STXBP2	OMIM:613101
HP:0001739	Abnormal nasopharynx morphology	51816	ADA2	OMIM:615688
HP:0001739	Abnormal nasopharynx morphology	54919	DNAAF5	OMIM:614874
HP:0001739	Abnormal nasopharynx morphology	4790	NFKB1	OMIM:616576
HP:0001739	Abnormal nasopharynx morphology	51364	ZMYND10	OMIM:615444
HP:0001739	Abnormal nasopharynx morphology	50615	IL21R	OMIM:615207
HP:0001739	Abnormal nasopharynx morphology	1767	DNAH5	OMIM:608644
HP:0001739	Abnormal nasopharynx morphology	85452	CFAP74	OMIM:620197
HP:0001739	Abnormal nasopharynx morphology	8382	NME5	OMIM:620032
HP:0001739	Abnormal nasopharynx morphology	29851	ICOS	OMIM:607594
HP:0001739	Abnormal nasopharynx morphology	29851	ICOS	OMIM:240500
HP:0001739	Abnormal nasopharynx morphology	84905	ZNF341	OMIM:618282
HP:0001739	Abnormal nasopharynx morphology	54	ACP5	OMIM:607944
HP:0001739	Abnormal nasopharynx morphology	23495	TNFRSF13B	OMIM:240500
HP:0001739	Abnormal nasopharynx morphology	1380	CR2	OMIM:240500
HP:0001739	Abnormal nasopharynx morphology	84061	MAGT1	OMIM:300853
HP:0001739	Abnormal nasopharynx morphology	123872	DNAAF1	OMIM:613193
HP:0001739	Abnormal nasopharynx morphology	1290	COL5A2	OMIM:130010
HP:0001739	Abnormal nasopharynx morphology	55130	ODAD2	OMIM:615451
HP:0001739	Abnormal nasopharynx morphology	10625	IVNS1ABP	OMIM:618969
HP:0001739	Abnormal nasopharynx morphology	4194	MDM4	OMIM:618849
HP:0001739	Abnormal nasopharynx morphology	3551	IKBKB	OMIM:618204
HP:0001739	Abnormal nasopharynx morphology	23765	IL17RA	OMIM:613953
HP:0001739	Abnormal nasopharynx morphology	246176	GAS2L2	OMIM:618449
HP:0001739	Abnormal nasopharynx morphology	6899	TBX1	OMIM:188400
HP:0001739	Abnormal nasopharynx morphology	81704	DOCK8	OMIM:243700
HP:0001739	Abnormal nasopharynx morphology	81704	DOCK8	ORPHA:217390
HP:0001739	Abnormal nasopharynx morphology	345643	MCIDAS	OMIM:618695
HP:0001739	Abnormal nasopharynx morphology	93233	ODAD1	OMIM:615067
HP:0001739	Abnormal nasopharynx morphology	56683	CFAP298	OMIM:615500
HP:0001739	Abnormal nasopharynx morphology	721	C4B	OMIM:614379
HP:0001739	Abnormal nasopharynx morphology	359948	IRF2BP2	OMIM:617765
HP:0001739	Abnormal nasopharynx morphology	4689	NCF4	OMIM:613960
HP:0001739	Abnormal nasopharynx morphology	6688	SPI1	OMIM:619707
HP:0001739	Abnormal nasopharynx morphology	85478	CCDC65	OMIM:615504
HP:0001739	Abnormal nasopharynx morphology	6674	SPAG1	OMIM:615505
HP:0001739	Abnormal nasopharynx morphology	51314	NME8	OMIM:610852
HP:0001739	Abnormal nasopharynx morphology	5696	PSMB8	OMIM:256040
HP:0001739	Abnormal nasopharynx morphology	2214	FCGR3A	OMIM:615707
HP:0001739	Abnormal nasopharynx morphology	165918	RNF168	ORPHA:420741
HP:0001739	Abnormal nasopharynx morphology	23639	DNAAF11	OMIM:614935
HP:0001739	Abnormal nasopharynx morphology	55172	DNAAF2	OMIM:612518
HP:0001739	Abnormal nasopharynx morphology	6794	STK11	ORPHA:2869
HP:0001739	Abnormal nasopharynx morphology	64135	IFIH1	OMIM:619773
HP:0001739	Abnormal nasopharynx morphology	89970	RSPRY1	ORPHA:457395
HP:0001739	Abnormal nasopharynx morphology	3423	IDS	ORPHA:217085
HP:0001739	Abnormal nasopharynx morphology	3423	IDS	ORPHA:217093
HP:0001739	Abnormal nasopharynx morphology	51341	ZBTB7A	OMIM:619769
HP:0001739	Abnormal nasopharynx morphology	23149	FCHO1	OMIM:619164
HP:0001739	Abnormal nasopharynx morphology	1956	EGFR	OMIM:616069
HP:0001739	Abnormal nasopharynx morphology	7157	TP53	OMIM:607107
HP:0001739	Abnormal nasopharynx morphology	4486	MST1R	OMIM:617075
HP:0001739	Abnormal nasopharynx morphology	5573	PRKAR1A	ORPHA:1359
HP:0001739	Abnormal nasopharynx morphology	50940	PDE11A	ORPHA:1359
HP:0001739	Abnormal nasopharynx morphology	26191	PTPN22	ORPHA:397
HP:0001739	Abnormal nasopharynx morphology	3106	HLA-B	ORPHA:397
HP:0001739	Abnormal nasopharynx morphology	3123	HLA-DRB1	ORPHA:397
HP:0001739	Abnormal nasopharynx morphology	8974	P4HA2	ORPHA:397
HP:0001739	Abnormal nasopharynx morphology	55315	SLC29A3	ORPHA:168569
HP:0001739	Abnormal nasopharynx morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001739	Abnormal nasopharynx morphology	331	XIAP	OMIM:308240
HP:0001739	Abnormal nasopharynx morphology	4068	SH2D1A	OMIM:308240
HP:0001739	Abnormal nasopharynx morphology	79087	ALG12	ORPHA:79324
HP:0001739	Abnormal nasopharynx morphology	2737	GLI3	ORPHA:672
HP:0001739	Abnormal nasopharynx morphology	5896	RAG1	ORPHA:331206
HP:0001739	Abnormal nasopharynx morphology	5897	RAG2	ORPHA:331206
HP:0001739	Abnormal nasopharynx morphology	4247	MGAT2	ORPHA:79329
HP:0001739	Abnormal nasopharynx morphology	8239	USP9X	ORPHA:480880
HP:0001739	Abnormal nasopharynx morphology	57379	AICDA	OMIM:605258
HP:0001739	Abnormal nasopharynx morphology	64421	DCLRE1C	ORPHA:275
HP:0001739	Abnormal nasopharynx morphology	7374	UNG	OMIM:608106
HP:0001739	Abnormal nasopharynx morphology	6340	SCNN1G	ORPHA:171876
HP:0001739	Abnormal nasopharynx morphology	6337	SCNN1A	ORPHA:171876
HP:0001739	Abnormal nasopharynx morphology	6338	SCNN1B	ORPHA:171876
HP:0001739	Abnormal nasopharynx morphology	29969	MDFIC	OMIM:620014
HP:0001739	Abnormal nasopharynx morphology	7535	ZAP70	ORPHA:911
HP:0011950	Bronchiolitis	55343	SLC35C1	OMIM:266265
HP:0011950	Bronchiolitis	5339	PLEC	ORPHA:254361
HP:0011950	Bronchiolitis	10806	SDCCAG8	OMIM:615993
HP:0011950	Bronchiolitis	2006	ELN	ORPHA:90348
HP:0011950	Bronchiolitis	10516	FBLN5	ORPHA:90348
HP:0011950	Bronchiolitis	5832	ALDH18A1	ORPHA:90348
HP:0011950	Bronchiolitis	5336	PLCG2	OMIM:614878
HP:0011950	Bronchiolitis	6890	TAP1	OMIM:604571
HP:0011950	Bronchiolitis	6891	TAP2	OMIM:604571
HP:0011950	Bronchiolitis	6892	TAPBP	OMIM:604571
HP:0011950	Bronchiolitis	2629	GBA1	OMIM:230900
HP:0011951	Aspiration pneumonia	3476	IGBP1	OMIM:300472
HP:0011951	Aspiration pneumonia	79848	CSPP1	ORPHA:397715
HP:0011951	Aspiration pneumonia	9786	KIAA0586	ORPHA:397715
HP:0011951	Aspiration pneumonia	4914	NTRK1	ORPHA:642
HP:0011951	Aspiration pneumonia	4784	NFIX	OMIM:602535
HP:0011951	Aspiration pneumonia	427	ASAH1	ORPHA:2590
HP:0011951	Aspiration pneumonia	23556	PIGN	ORPHA:280633
HP:0011951	Aspiration pneumonia	2629	GBA1	OMIM:230900
HP:0011951	Aspiration pneumonia	535	ATP6V0A1	OMIM:619971
HP:0011951	Aspiration pneumonia	4281	MID1	ORPHA:2745
HP:0011951	Aspiration pneumonia	29957	SLC25A24	OMIM:612289
HP:0011951	Aspiration pneumonia	7994	KAT6A	OMIM:616268
HP:0011951	Aspiration pneumonia	9361	LONP1	ORPHA:79243
HP:0011951	Aspiration pneumonia	5160	PDHA1	ORPHA:79243
HP:0011951	Aspiration pneumonia	3431	SP110	ORPHA:79124
HP:0011951	Aspiration pneumonia	378884	NHLRC1	ORPHA:501
HP:0011951	Aspiration pneumonia	7957	EPM2A	ORPHA:501
HP:0011951	Aspiration pneumonia	3119	HLA-DQB1	ORPHA:930
HP:0011951	Aspiration pneumonia	9244	CRLF1	ORPHA:930
HP:0011951	Aspiration pneumonia	3117	HLA-DQA1	ORPHA:930
HP:0011951	Aspiration pneumonia	4842	NOS1	ORPHA:930
HP:0011951	Aspiration pneumonia	5293	PIK3CD	ORPHA:221139
HP:0011951	Aspiration pneumonia	90417	KNSTRN	ORPHA:221139
HP:0011951	Aspiration pneumonia	10755	GIPC1	ORPHA:98897
HP:0011951	Aspiration pneumonia	100996717	NOTCH2NLC	ORPHA:98897
HP:0011951	Aspiration pneumonia	8085	KMT2D	OMIM:147920
HP:0011951	Aspiration pneumonia	7403	KDM6A	OMIM:147920
HP:0011951	Aspiration pneumonia	5373	PMM2	ORPHA:79318
HP:0011951	Aspiration pneumonia	9342	SNAP29	OMIM:609528
HP:0011951	Aspiration pneumonia	55791	LRIF1	OMIM:619477
HP:0011951	Aspiration pneumonia	54809	SAMD9	OMIM:617053
HP:0011951	Aspiration pneumonia	55037	PTCD3	OMIM:619057
HP:0011951	Aspiration pneumonia	2260	FGFR1	ORPHA:220386
HP:0011951	Aspiration pneumonia	2260	FGFR1	ORPHA:93924
HP:0011951	Aspiration pneumonia	28514	DLL1	ORPHA:220386
HP:0011951	Aspiration pneumonia	28514	DLL1	ORPHA:93926
HP:0011951	Aspiration pneumonia	28514	DLL1	ORPHA:93924
HP:0011951	Aspiration pneumonia	28514	DLL1	ORPHA:93925
HP:0011951	Aspiration pneumonia	10735	STAG2	ORPHA:220386
HP:0011951	Aspiration pneumonia	10735	STAG2	ORPHA:93925
HP:0011951	Aspiration pneumonia	2253	FGF8	ORPHA:220386
HP:0011951	Aspiration pneumonia	2253	FGF8	ORPHA:93926
HP:0011951	Aspiration pneumonia	2253	FGF8	ORPHA:93924
HP:0011951	Aspiration pneumonia	2253	FGF8	ORPHA:93925
HP:0011951	Aspiration pneumonia	8243	SMC1A	ORPHA:220386
HP:0011951	Aspiration pneumonia	6496	SIX3	ORPHA:220386
HP:0011951	Aspiration pneumonia	6496	SIX3	ORPHA:93926
HP:0011951	Aspiration pneumonia	6496	SIX3	ORPHA:93924
HP:0011951	Aspiration pneumonia	6496	SIX3	ORPHA:93925
HP:0011951	Aspiration pneumonia	7050	TGIF1	ORPHA:220386
HP:0011951	Aspiration pneumonia	7050	TGIF1	ORPHA:93926
HP:0011951	Aspiration pneumonia	7050	TGIF1	ORPHA:93924
HP:0011951	Aspiration pneumonia	7050	TGIF1	ORPHA:93925
HP:0011951	Aspiration pneumonia	4838	NODAL	ORPHA:220386
HP:0011951	Aspiration pneumonia	4838	NODAL	ORPHA:93926
HP:0011951	Aspiration pneumonia	4838	NODAL	ORPHA:93924
HP:0011951	Aspiration pneumonia	4838	NODAL	ORPHA:93925
HP:0011951	Aspiration pneumonia	6469	SHH	ORPHA:220386
HP:0011951	Aspiration pneumonia	6469	SHH	ORPHA:93926
HP:0011951	Aspiration pneumonia	6469	SHH	ORPHA:93924
HP:0011951	Aspiration pneumonia	6469	SHH	ORPHA:93925
HP:0011951	Aspiration pneumonia	7546	ZIC2	ORPHA:220386
HP:0011951	Aspiration pneumonia	7546	ZIC2	ORPHA:93926
HP:0011951	Aspiration pneumonia	7546	ZIC2	ORPHA:93924
HP:0011951	Aspiration pneumonia	7546	ZIC2	ORPHA:93925
HP:0011951	Aspiration pneumonia	6491	STIL	ORPHA:220386
HP:0011951	Aspiration pneumonia	6491	STIL	ORPHA:93926
HP:0011951	Aspiration pneumonia	6491	STIL	ORPHA:93924
HP:0011951	Aspiration pneumonia	6491	STIL	ORPHA:93925
HP:0011951	Aspiration pneumonia	2619	GAS1	ORPHA:220386
HP:0011951	Aspiration pneumonia	2619	GAS1	ORPHA:93926
HP:0011951	Aspiration pneumonia	2619	GAS1	ORPHA:93924
HP:0011951	Aspiration pneumonia	2619	GAS1	ORPHA:93925
HP:0011951	Aspiration pneumonia	84976	DISP1	ORPHA:220386
HP:0011951	Aspiration pneumonia	84976	DISP1	ORPHA:93926
HP:0011951	Aspiration pneumonia	84976	DISP1	ORPHA:93924
HP:0011951	Aspiration pneumonia	84976	DISP1	ORPHA:93925
HP:0011951	Aspiration pneumonia	2736	GLI2	ORPHA:220386
HP:0011951	Aspiration pneumonia	2736	GLI2	ORPHA:93926
HP:0011951	Aspiration pneumonia	2736	GLI2	ORPHA:93924
HP:0011951	Aspiration pneumonia	2736	GLI2	ORPHA:93925
HP:0011951	Aspiration pneumonia	8928	FOXH1	ORPHA:220386
HP:0011951	Aspiration pneumonia	8928	FOXH1	ORPHA:93926
HP:0011951	Aspiration pneumonia	8928	FOXH1	ORPHA:93924
HP:0011951	Aspiration pneumonia	8928	FOXH1	ORPHA:93925
HP:0011951	Aspiration pneumonia	5727	PTCH1	ORPHA:220386
HP:0011951	Aspiration pneumonia	5727	PTCH1	ORPHA:93926
HP:0011951	Aspiration pneumonia	5727	PTCH1	ORPHA:93924
HP:0011951	Aspiration pneumonia	5727	PTCH1	ORPHA:93925
HP:0011951	Aspiration pneumonia	50937	CDON	ORPHA:220386
HP:0011951	Aspiration pneumonia	50937	CDON	ORPHA:93926
HP:0011951	Aspiration pneumonia	50937	CDON	ORPHA:93924
HP:0011951	Aspiration pneumonia	50937	CDON	ORPHA:93925
HP:0011951	Aspiration pneumonia	27125	AFF4	OMIM:616368
HP:0011951	Aspiration pneumonia	27125	AFF4	ORPHA:444077
HP:0011951	Aspiration pneumonia	6597	SMARCA4	ORPHA:1465
HP:0011951	Aspiration pneumonia	6598	SMARCB1	ORPHA:1465
HP:0011951	Aspiration pneumonia	6659	SOX4	ORPHA:1465
HP:0011951	Aspiration pneumonia	8289	ARID1A	ORPHA:1465
HP:0011951	Aspiration pneumonia	5977	DPF2	ORPHA:1465
HP:0011951	Aspiration pneumonia	6601	SMARCC2	ORPHA:1465
HP:0011951	Aspiration pneumonia	6602	SMARCD1	ORPHA:1465
HP:0011951	Aspiration pneumonia	57492	ARID1B	ORPHA:1465
HP:0011951	Aspiration pneumonia	196528	ARID2	ORPHA:1465
HP:0011951	Aspiration pneumonia	6605	SMARCE1	ORPHA:1465
HP:0011951	Aspiration pneumonia	6664	SOX11	ORPHA:1465
HP:0011951	Aspiration pneumonia	133686	NADK2	ORPHA:431361
HP:0011951	Aspiration pneumonia	8398	PLA2G6	ORPHA:35069
HP:0011951	Aspiration pneumonia	5048	PAFAH1B1	ORPHA:95232
HP:0011951	Aspiration pneumonia	6872	TAF1	ORPHA:53351
HP:0011951	Aspiration pneumonia	526	ATP6V1B2	ORPHA:79500
HP:0011951	Aspiration pneumonia	57465	TBC1D24	ORPHA:79500
HP:0011951	Aspiration pneumonia	9896	FIG4	OMIM:216340
HP:0011951	Aspiration pneumonia	7314	UBB	ORPHA:99772
HP:0011951	Aspiration pneumonia	57822	GRHL3	ORPHA:99772
HP:0011951	Aspiration pneumonia	1678	TIMM8A	ORPHA:52368
HP:0011951	Aspiration pneumonia	283446	MYO1H	OMIM:619482
HP:0011951	Aspiration pneumonia	57190	SELENON	ORPHA:2020
HP:0011951	Aspiration pneumonia	58	ACTA1	ORPHA:2020
HP:0011951	Aspiration pneumonia	4633	MYL2	ORPHA:2020
HP:0011951	Aspiration pneumonia	3679	ITGA7	ORPHA:2020
HP:0011951	Aspiration pneumonia	7169	TPM2	ORPHA:2020
HP:0011951	Aspiration pneumonia	9200	HACD1	ORPHA:2020
HP:0011951	Aspiration pneumonia	7170	TPM3	ORPHA:2020
HP:0011951	Aspiration pneumonia	51776	MAP3K20	ORPHA:2020
HP:0011951	Aspiration pneumonia	80025	PANK2	ORPHA:216866
HP:0011951	Aspiration pneumonia	92935	MARS2	OMIM:616430
HP:0011951	Aspiration pneumonia	4700	NDUFA6	OMIM:618253
HP:0011951	Aspiration pneumonia	6392	SDHD	OMIM:619167
HP:0011951	Aspiration pneumonia	10342	TFG	ORPHA:90117
HP:0011951	Aspiration pneumonia	23007	PLCH1	ORPHA:93925
HP:0011951	Aspiration pneumonia	5277	PIGA	OMIM:301072
HP:0011951	Aspiration pneumonia	2720	GLB1	ORPHA:79255
HP:0011951	Aspiration pneumonia	4001	LMNB1	ORPHA:99027
HP:0011951	Aspiration pneumonia	5813	PURA	ORPHA:314655
HP:0011951	Aspiration pneumonia	1288	COL4A6	ORPHA:1018
HP:0011951	Aspiration pneumonia	1287	COL4A5	ORPHA:1018
HP:0011954	Nodular regenerative hyperplasia of liver	11277	TREX1	ORPHA:247691
HP:0011954	Nodular regenerative hyperplasia of liver	54440	SASH3	OMIM:301082
HP:0011954	Nodular regenerative hyperplasia of liver	55768	NGLY1	ORPHA:404454
HP:0011954	Nodular regenerative hyperplasia of liver	55340	GIMAP5	OMIM:619463
HP:0011957	Abnormal pectoral muscle morphology	4010	LMX1B	OMIM:161200
HP:0011957	Abnormal pectoral muscle morphology	57167	SALL4	OMIM:147750
HP:0011957	Abnormal pectoral muscle morphology	825	CAPN3	ORPHA:267
HP:0011958	Retinal perforation	3105	HLA-A	ORPHA:179
HP:0011958	Retinal perforation	8322	FZD4	OMIM:133780
HP:0011958	Retinal perforation	4041	LRP5	OMIM:133780
HP:0011958	Retinal perforation	79797	ZNF408	OMIM:616468
HP:0011958	Retinal perforation	1499	CTNNB1	OMIM:617572
HP:0011958	Retinal perforation	1280	COL2A1	OMIM:108300
HP:0011958	Retinal perforation	4693	NDP	OMIM:305390
HP:0011958	Retinal perforation	345193	LRIT3	OMIM:615058
HP:0011958	Retinal perforation	5961	PRPH2	ORPHA:75377
HP:0011958	Retinal perforation	3000	GUCY2D	ORPHA:75377
HP:0011958	Retinal perforation	2978	GUCA1A	ORPHA:75377
HP:0001741	Phimosis	55612	FERMT1	OMIM:173650
HP:0001741	Phimosis	55612	FERMT1	ORPHA:2908
HP:0001741	Phimosis	80152	CENPT	OMIM:618702
HP:0001741	Phimosis	25942	SIN3A	OMIM:613406
HP:0001741	Phimosis	10084	PQBP1	OMIM:309500
HP:0001741	Phimosis	55780	ERMARD	ORPHA:75857
HP:0001741	Phimosis	1736	DKC1	OMIM:305000
HP:0001741	Phimosis	10664	CTCF	ORPHA:363611
HP:0001741	Phimosis	64324	NSD1	ORPHA:821
HP:0001741	Phimosis	29072	SETD2	ORPHA:821
HP:0001741	Phimosis	10297	APC2	ORPHA:821
HP:0001742	Nasal congestion	25981	DNAH1	ORPHA:244
HP:0001742	Nasal congestion	115948	ODAD3	ORPHA:244
HP:0001742	Nasal congestion	115948	ODAD3	OMIM:616037
HP:0001742	Nasal congestion	54768	HYDIN	ORPHA:244
HP:0001742	Nasal congestion	352909	DNAAF3	ORPHA:244
HP:0001742	Nasal congestion	27148	STK36	ORPHA:244
HP:0001742	Nasal congestion	51314	NME8	ORPHA:244
HP:0001742	Nasal congestion	92749	DRC1	ORPHA:244
HP:0001742	Nasal congestion	54970	TTC12	ORPHA:244
HP:0001742	Nasal congestion	152110	NEK10	ORPHA:244
HP:0001742	Nasal congestion	8481	OFD1	ORPHA:244
HP:0001742	Nasal congestion	2302	FOXJ1	ORPHA:244
HP:0001742	Nasal congestion	221421	RSPH9	ORPHA:244
HP:0001742	Nasal congestion	85478	CCDC65	ORPHA:244
HP:0001742	Nasal congestion	55036	CCDC40	ORPHA:244
HP:0001742	Nasal congestion	51364	ZMYND10	ORPHA:244
HP:0001742	Nasal congestion	64446	DNAI2	ORPHA:244
HP:0001742	Nasal congestion	6674	SPAG1	ORPHA:244
HP:0001742	Nasal congestion	83544	DNAL1	ORPHA:244
HP:0001742	Nasal congestion	89765	RSPH1	ORPHA:244
HP:0001742	Nasal congestion	83538	ODAD4	ORPHA:244
HP:0001742	Nasal congestion	200373	CFAP221	ORPHA:244
HP:0001742	Nasal congestion	374407	DNAJB13	ORPHA:244
HP:0001742	Nasal congestion	55172	DNAAF2	ORPHA:244
HP:0001742	Nasal congestion	161582	DNAAF4	ORPHA:244
HP:0001742	Nasal congestion	2622	GAS8	ORPHA:244
HP:0001742	Nasal congestion	23639	DNAAF11	ORPHA:244
HP:0001742	Nasal congestion	27019	DNAI1	ORPHA:244
HP:0001742	Nasal congestion	345895	RSPH4A	ORPHA:244
HP:0001742	Nasal congestion	54919	DNAAF5	ORPHA:244
HP:0001742	Nasal congestion	6103	RPGR	ORPHA:244
HP:0001742	Nasal congestion	388389	CCDC103	ORPHA:244
HP:0001742	Nasal congestion	93233	ODAD1	ORPHA:244
HP:0001742	Nasal congestion	55130	ODAD2	ORPHA:244
HP:0001742	Nasal congestion	1767	DNAH5	ORPHA:244
HP:0001742	Nasal congestion	83861	RSPH3	ORPHA:244
HP:0001742	Nasal congestion	345643	MCIDAS	ORPHA:244
HP:0001742	Nasal congestion	56683	CFAP298	ORPHA:244
HP:0001742	Nasal congestion	79925	SPEF2	ORPHA:244
HP:0001742	Nasal congestion	10309	CCNO	ORPHA:244
HP:0001742	Nasal congestion	115399	LRRC56	ORPHA:244
HP:0001742	Nasal congestion	139212	DNAAF6	ORPHA:244
HP:0001742	Nasal congestion	139212	DNAAF6	OMIM:300991
HP:0001742	Nasal congestion	123872	DNAAF1	ORPHA:244
HP:0001742	Nasal congestion	85016	CFAP300	ORPHA:244
HP:0001742	Nasal congestion	339829	CCDC39	ORPHA:244
HP:0001742	Nasal congestion	8701	DNAH11	ORPHA:244
HP:0001742	Nasal congestion	1770	DNAH9	ORPHA:244
HP:0001742	Nasal congestion	246176	GAS2L2	ORPHA:244
HP:0001742	Nasal congestion	2778	GNAS	ORPHA:562
HP:0001742	Nasal congestion	2697	GJA1	OMIM:218400
HP:0001742	Nasal congestion	1376	CPT2	OMIM:608836
HP:0001742	Nasal congestion	1621	DBH	OMIM:223360
HP:0001742	Nasal congestion	146206	CARMIL2	OMIM:618131
HP:0001742	Nasal congestion	23568	ARL2BP	OMIM:615434
HP:0001742	Nasal congestion	2260	FGFR1	OMIM:166250
HP:0001742	Nasal congestion	56172	ANKH	OMIM:123000
HP:0001742	Nasal congestion	5294	PIK3CG	OMIM:619802
HP:0001742	Nasal congestion	1644	DDC	OMIM:608643
HP:0001742	Nasal congestion	415	ARSL	ORPHA:79345
HP:0001743	Abnormality of the spleen	9663	LPIN2	OMIM:609628
HP:0001743	Abnormality of the spleen	201294	UNC13D	OMIM:608898
HP:0001743	Abnormality of the spleen	3071	NCKAP1L	OMIM:618982
HP:0001743	Abnormality of the spleen	10466	COG5	ORPHA:263487
HP:0001743	Abnormality of the spleen	2632	GBE1	OMIM:232500
HP:0001743	Abnormality of the spleen	55823	VPS11	ORPHA:466934
HP:0001743	Abnormality of the spleen	5880	RAC2	OMIM:618986
HP:0001743	Abnormality of the spleen	100151683	RNU4ATAC	ORPHA:353298
HP:0001743	Abnormality of the spleen	811	CALR	ORPHA:824
HP:0001743	Abnormality of the spleen	4352	MPL	ORPHA:824
HP:0001743	Abnormality of the spleen	3717	JAK2	ORPHA:824
HP:0001743	Abnormality of the spleen	857	CAV1	OMIM:612526
HP:0001743	Abnormality of the spleen	79796	ALG9	OMIM:608776
HP:0001743	Abnormality of the spleen	4023	LPL	OMIM:238600
HP:0001743	Abnormality of the spleen	4758	NEU1	ORPHA:93399
HP:0001743	Abnormality of the spleen	4758	NEU1	ORPHA:93400
HP:0001743	Abnormality of the spleen	9420	CYP7B1	ORPHA:79302
HP:0001743	Abnormality of the spleen	4125	MAN2B1	ORPHA:309282
HP:0001743	Abnormality of the spleen	4125	MAN2B1	ORPHA:309288
HP:0001743	Abnormality of the spleen	55315	SLC29A3	OMIM:602782
HP:0001743	Abnormality of the spleen	55315	SLC29A3	ORPHA:168569
HP:0001743	Abnormality of the spleen	6888	TALDO1	ORPHA:101028
HP:0001743	Abnormality of the spleen	6888	TALDO1	OMIM:606003
HP:0001743	Abnormality of the spleen	6775	STAT4	ORPHA:85408
HP:0001743	Abnormality of the spleen	3560	IL2RB	ORPHA:85408
HP:0001743	Abnormality of the spleen	79722	ANKRD55	ORPHA:85408
HP:0001743	Abnormality of the spleen	26191	PTPN22	ORPHA:85408
HP:0001743	Abnormality of the spleen	919	CD247	ORPHA:85408
HP:0001743	Abnormality of the spleen	919	CD247	ORPHA:169160
HP:0001743	Abnormality of the spleen	3559	IL2RA	ORPHA:85408
HP:0001743	Abnormality of the spleen	3559	IL2RA	OMIM:606367
HP:0001743	Abnormality of the spleen	5771	PTPN2	ORPHA:85408
HP:0001743	Abnormality of the spleen	939	CD27	OMIM:615122
HP:0001743	Abnormality of the spleen	3074	HEXB	OMIM:268800
HP:0001743	Abnormality of the spleen	3074	HEXB	ORPHA:309155
HP:0001743	Abnormality of the spleen	6813	STXBP2	OMIM:613101
HP:0001743	Abnormality of the spleen	3459	IFNGR1	OMIM:209950
HP:0001743	Abnormality of the spleen	3716	JAK1	OMIM:618999
HP:0001743	Abnormality of the spleen	2122	MECOM	OMIM:616738
HP:0001743	Abnormality of the spleen	2720	GLB1	ORPHA:79255
HP:0001743	Abnormality of the spleen	5476	CTSA	OMIM:256540
HP:0001743	Abnormality of the spleen	57231	SNX14	ORPHA:397709
HP:0001743	Abnormality of the spleen	9382	COG1	ORPHA:263508
HP:0001743	Abnormality of the spleen	79158	GNPTAB	ORPHA:576
HP:0001743	Abnormality of the spleen	427	ASAH1	ORPHA:333
HP:0001743	Abnormality of the spleen	427	ASAH1	ORPHA:2590
HP:0001743	Abnormality of the spleen	25839	COG4	ORPHA:263501
HP:0001743	Abnormality of the spleen	2212	FCGR2A	OMIM:219700
HP:0001743	Abnormality of the spleen	7040	TGFB1	OMIM:219700
HP:0001743	Abnormality of the spleen	1080	CFTR	OMIM:219700
HP:0001743	Abnormality of the spleen	915	CD3D	ORPHA:169160
HP:0001743	Abnormality of the spleen	916	CD3E	ORPHA:169160
HP:0001743	Abnormality of the spleen	65082	VPS33A	ORPHA:505248
HP:0001743	Abnormality of the spleen	2859	GPR35	ORPHA:171
HP:0001743	Abnormality of the spleen	10507	SEMA4D	ORPHA:171
HP:0001743	Abnormality of the spleen	4485	MST1	ORPHA:171
HP:0001743	Abnormality of the spleen	6925	TCF4	ORPHA:171
HP:0001743	Abnormality of the spleen	55240	STEAP3	ORPHA:300298
HP:0001743	Abnormality of the spleen	51218	GLRX5	OMIM:616860
HP:0001743	Abnormality of the spleen	1777	DNASE2	OMIM:619858
HP:0001743	Abnormality of the spleen	5896	RAG1	ORPHA:331206
HP:0001743	Abnormality of the spleen	5897	RAG2	ORPHA:331206
HP:0001743	Abnormality of the spleen	3423	IDS	ORPHA:217085
HP:0001743	Abnormality of the spleen	3423	IDS	ORPHA:217093
HP:0001743	Abnormality of the spleen	3423	IDS	OMIM:309900
HP:0001743	Abnormality of the spleen	92579	G6PC3	OMIM:612541
HP:0001743	Abnormality of the spleen	3376	IARS1	ORPHA:541423
HP:0001743	Abnormality of the spleen	3431	SP110	ORPHA:79124
HP:0001743	Abnormality of the spleen	8546	AP3B1	OMIM:608233
HP:0001743	Abnormality of the spleen	1130	LYST	ORPHA:167
HP:0001743	Abnormality of the spleen	26154	ABCA12	OMIM:601277
HP:0001743	Abnormality of the spleen	79415	CYBC1	OMIM:618935
HP:0001743	Abnormality of the spleen	672	BRCA1	ORPHA:1333
HP:0001743	Abnormality of the spleen	285282	RABL3	ORPHA:1333
HP:0001743	Abnormality of the spleen	7157	TP53	ORPHA:1333
HP:0001743	Abnormality of the spleen	675	BRCA2	ORPHA:1333
HP:0001743	Abnormality of the spleen	3845	KRAS	ORPHA:1333
HP:0001743	Abnormality of the spleen	1029	CDKN2A	ORPHA:1333
HP:0001743	Abnormality of the spleen	79728	PALB2	ORPHA:1333
HP:0001743	Abnormality of the spleen	4089	SMAD4	ORPHA:1333
HP:0001743	Abnormality of the spleen	23022	PALLD	ORPHA:1333
HP:0001743	Abnormality of the spleen	2783	GNB2	OMIM:619503
HP:0001743	Abnormality of the spleen	3425	IDUA	OMIM:607014
HP:0001743	Abnormality of the spleen	2584	GALK1	ORPHA:79237
HP:0001743	Abnormality of the spleen	9051	PSTPIP1	OMIM:604416
HP:0001743	Abnormality of the spleen	970	CD70	OMIM:618261
HP:0001743	Abnormality of the spleen	7840	ALMS1	ORPHA:64
HP:0001743	Abnormality of the spleen	9056	SLC7A7	ORPHA:470
HP:0001743	Abnormality of the spleen	10312	TCIRG1	ORPHA:210110
HP:0001743	Abnormality of the spleen	1186	CLCN7	ORPHA:210110
HP:0001743	Abnormality of the spleen	9842	PLEKHM1	ORPHA:210110
HP:0001743	Abnormality of the spleen	6772	STAT1	ORPHA:391487
HP:0001743	Abnormality of the spleen	10043	TOM1	ORPHA:391487
HP:0001743	Abnormality of the spleen	6521	SLC4A1	OMIM:611590
HP:0001743	Abnormality of the spleen	3572	IL6ST	OMIM:619750
HP:0001743	Abnormality of the spleen	6774	STAT3	OMIM:615952
HP:0001743	Abnormality of the spleen	5828	PEX2	OMIM:614866
HP:0001743	Abnormality of the spleen	83706	FERMT3	OMIM:612840
HP:0001743	Abnormality of the spleen	8517	IKBKG	OMIM:301081
HP:0001743	Abnormality of the spleen	6513	SLC2A1	ORPHA:168577
HP:0001743	Abnormality of the spleen	65992	DDRGK1	ORPHA:93352
HP:0001743	Abnormality of the spleen	5551	PRF1	OMIM:603553
HP:0001743	Abnormality of the spleen	3575	IL7R	ORPHA:169154
HP:0001743	Abnormality of the spleen	100147744	RNU7-1	OMIM:619487
HP:0001743	Abnormality of the spleen	100147744	RNU7-1	ORPHA:51
HP:0001743	Abnormality of the spleen	374354	NHLRC2	OMIM:618278
HP:0001743	Abnormality of the spleen	57169	ZNFX1	OMIM:619644
HP:0001743	Abnormality of the spleen	2263	FGFR2	OMIM:614592
HP:0001743	Abnormality of the spleen	2263	FGFR2	ORPHA:313855
HP:0001743	Abnormality of the spleen	5788	PTPRC	OMIM:619924
HP:0001743	Abnormality of the spleen	51816	ADA2	OMIM:615688
HP:0001743	Abnormality of the spleen	51473	DCDC2	ORPHA:84081
HP:0001743	Abnormality of the spleen	10165	SLC25A13	ORPHA:247598
HP:0001743	Abnormality of the spleen	9371	KIF3B	OMIM:618955
HP:0001743	Abnormality of the spleen	5294	PIK3CG	OMIM:619802
HP:0001743	Abnormality of the spleen	2729	GCLC	ORPHA:33574
HP:0001743	Abnormality of the spleen	7841	MOGS	ORPHA:79330
HP:0001743	Abnormality of the spleen	388015	RTL1	ORPHA:96334
HP:0001743	Abnormality of the spleen	8788	DLK1	ORPHA:96334
HP:0001743	Abnormality of the spleen	55384	MEG3	ORPHA:96334
HP:0001743	Abnormality of the spleen	6663	SOX10	OMIM:609136
HP:0001743	Abnormality of the spleen	114548	NLRP3	OMIM:607115
HP:0001743	Abnormality of the spleen	91949	COG7	ORPHA:79333
HP:0001743	Abnormality of the spleen	3718	JAK3	ORPHA:35078
HP:0001743	Abnormality of the spleen	760	CA2	OMIM:259730
HP:0001743	Abnormality of the spleen	19	ABCA1	ORPHA:31150
HP:0001743	Abnormality of the spleen	3930	LBR	OMIM:215140
HP:0001743	Abnormality of the spleen	7030	TFE3	OMIM:301066
HP:0001743	Abnormality of the spleen	5873	RAB27A	OMIM:607624
HP:0001743	Abnormality of the spleen	84868	HAVCR2	ORPHA:86884
HP:0001743	Abnormality of the spleen	2193	FARSA	OMIM:619013
HP:0001743	Abnormality of the spleen	5194	PEX13	OMIM:614885
HP:0001743	Abnormality of the spleen	3458	IFNG	OMIM:618963
HP:0001743	Abnormality of the spleen	84317	CCDC115	OMIM:616828
HP:0001743	Abnormality of the spleen	10020	GNE	ORPHA:3166
HP:0001743	Abnormality of the spleen	9939	RBM8A	OMIM:274000
HP:0001743	Abnormality of the spleen	57410	SCYL1	ORPHA:466794
HP:0001743	Abnormality of the spleen	8813	DPM1	ORPHA:79322
HP:0001743	Abnormality of the spleen	84153	RNASEH2C	OMIM:610329
HP:0001743	Abnormality of the spleen	84153	RNASEH2C	ORPHA:51
HP:0001743	Abnormality of the spleen	28962	OSTM1	OMIM:259720
HP:0001743	Abnormality of the spleen	1513	CTSK	ORPHA:763
HP:0001743	Abnormality of the spleen	11133	KPTN	ORPHA:397612
HP:0001743	Abnormality of the spleen	9742	IFT140	OMIM:266920
HP:0001743	Abnormality of the spleen	10535	RNASEH2A	OMIM:610333
HP:0001743	Abnormality of the spleen	10535	RNASEH2A	ORPHA:51
HP:0001743	Abnormality of the spleen	7535	ZAP70	ORPHA:911
HP:0001743	Abnormality of the spleen	25939	SAMHD1	ORPHA:51
HP:0001743	Abnormality of the spleen	79621	RNASEH2B	ORPHA:51
HP:0001743	Abnormality of the spleen	103	ADAR	ORPHA:51
HP:0001743	Abnormality of the spleen	11277	TREX1	ORPHA:51
HP:0001743	Abnormality of the spleen	134353	LSM11	ORPHA:51
HP:0001743	Abnormality of the spleen	64135	IFIH1	ORPHA:51
HP:0001743	Abnormality of the spleen	6005	RHAG	ORPHA:71275
HP:0001743	Abnormality of the spleen	6006	RHCE	ORPHA:71275
HP:0001743	Abnormality of the spleen	6007	RHD	ORPHA:71275
HP:0001743	Abnormality of the spleen	8600	TNFSF11	OMIM:259710
HP:0001743	Abnormality of the spleen	6309	SC5D	OMIM:607330
HP:0001743	Abnormality of the spleen	22800	RRAS2	ORPHA:648
HP:0001743	Abnormality of the spleen	8216	LZTR1	ORPHA:648
HP:0001743	Abnormality of the spleen	6016	RIT1	ORPHA:648
HP:0001743	Abnormality of the spleen	6237	RRAS	ORPHA:648
HP:0001743	Abnormality of the spleen	5894	RAF1	ORPHA:648
HP:0001743	Abnormality of the spleen	22808	MRAS	ORPHA:648
HP:0001743	Abnormality of the spleen	200734	SPRED2	ORPHA:648
HP:0001743	Abnormality of the spleen	6654	SOS1	ORPHA:648
HP:0001743	Abnormality of the spleen	6655	SOS2	ORPHA:648
HP:0001743	Abnormality of the spleen	5781	PTPN11	ORPHA:648
HP:0001743	Abnormality of the spleen	5922	RASA2	ORPHA:648
HP:0001743	Abnormality of the spleen	5590	PRKCZ	ORPHA:1606
HP:0001743	Abnormality of the spleen	2563	GABRD	ORPHA:1606
HP:0001743	Abnormality of the spleen	23013	SPEN	ORPHA:1606
HP:0001743	Abnormality of the spleen	8510	MMP23B	ORPHA:1606
HP:0001743	Abnormality of the spleen	7798	LUZP1	ORPHA:1606
HP:0001743	Abnormality of the spleen	6497	SKI	ORPHA:1606
HP:0001743	Abnormality of the spleen	10630	PDPN	ORPHA:1606
HP:0001743	Abnormality of the spleen	3339	HSPG2	ORPHA:1606
HP:0001743	Abnormality of the spleen	10277	UBE4B	ORPHA:1606
HP:0001743	Abnormality of the spleen	8514	KCNAB2	ORPHA:1606
HP:0001743	Abnormality of the spleen	473	RERE	ORPHA:1606
HP:0001743	Abnormality of the spleen	63976	PRDM16	ORPHA:1606
HP:0001743	Abnormality of the spleen	54897	CASZ1	ORPHA:1606
HP:0001743	Abnormality of the spleen	4609	MYC	ORPHA:543
HP:0001743	Abnormality of the spleen	8091	HMGA2	ORPHA:94063
HP:0001743	Abnormality of the spleen	23592	LEMD3	ORPHA:94063
HP:0001743	Abnormality of the spleen	1497	CTNS	OMIM:219800
HP:0001743	Abnormality of the spleen	5728	PTEN	OMIM:605309
HP:0001743	Abnormality of the spleen	5728	PTEN	ORPHA:2969
HP:0001743	Abnormality of the spleen	5728	PTEN	ORPHA:744
HP:0001743	Abnormality of the spleen	7293	TNFRSF4	OMIM:615593
HP:0001743	Abnormality of the spleen	3783	KCNN4	OMIM:616689
HP:0001743	Abnormality of the spleen	3783	KCNN4	ORPHA:3202
HP:0001743	Abnormality of the spleen	1161	ERCC8	ORPHA:90324
HP:0001743	Abnormality of the spleen	1161	ERCC8	OMIM:216400
HP:0001743	Abnormality of the spleen	2074	ERCC6	ORPHA:90324
HP:0001743	Abnormality of the spleen	2074	ERCC6	OMIM:133540
HP:0001743	Abnormality of the spleen	8573	CASK	OMIM:300908
HP:0001743	Abnormality of the spleen	2539	G6PD	OMIM:300908
HP:0001743	Abnormality of the spleen	4860	PNP	OMIM:613179
HP:0001743	Abnormality of the spleen	755	CFAP410	OMIM:602271
HP:0001743	Abnormality of the spleen	148738	HJV	OMIM:602390
HP:0001743	Abnormality of the spleen	80270	HSD3B7	ORPHA:79301
HP:0001743	Abnormality of the spleen	80270	HSD3B7	OMIM:607765
HP:0001743	Abnormality of the spleen	197131	UBR1	OMIM:243800
HP:0001743	Abnormality of the spleen	4210	MEFV	OMIM:249100
HP:0001743	Abnormality of the spleen	4210	MEFV	ORPHA:342
HP:0001743	Abnormality of the spleen	4210	MEFV	ORPHA:117
HP:0001743	Abnormality of the spleen	84433	CARD11	OMIM:616452
HP:0001743	Abnormality of the spleen	5184	PEPD	OMIM:170100
HP:0001743	Abnormality of the spleen	5184	PEPD	ORPHA:742
HP:0001743	Abnormality of the spleen	84936	ZFYVE19	OMIM:619849
HP:0001743	Abnormality of the spleen	10730	YME1L1	OMIM:617302
HP:0001743	Abnormality of the spleen	55768	NGLY1	ORPHA:404454
HP:0001743	Abnormality of the spleen	1536	CYBB	ORPHA:379
HP:0001743	Abnormality of the spleen	1536	CYBB	OMIM:306400
HP:0001743	Abnormality of the spleen	4688	NCF2	ORPHA:379
HP:0001743	Abnormality of the spleen	4688	NCF2	OMIM:233710
HP:0001743	Abnormality of the spleen	1535	CYBA	ORPHA:379
HP:0001743	Abnormality of the spleen	1535	CYBA	OMIM:233690
HP:0001743	Abnormality of the spleen	4689	NCF4	ORPHA:379
HP:0001743	Abnormality of the spleen	653361	NCF1	ORPHA:379
HP:0001743	Abnormality of the spleen	653361	NCF1	OMIM:233700
HP:0001743	Abnormality of the spleen	23495	TNFRSF13B	OMIM:240500
HP:0001743	Abnormality of the spleen	23495	TNFRSF13B	ORPHA:1572
HP:0001743	Abnormality of the spleen	115650	TNFRSF13C	OMIM:240500
HP:0001743	Abnormality of the spleen	115650	TNFRSF13C	ORPHA:1572
HP:0001743	Abnormality of the spleen	1380	CR2	OMIM:240500
HP:0001743	Abnormality of the spleen	1380	CR2	ORPHA:1572
HP:0001743	Abnormality of the spleen	1380	CR2	OMIM:614699
HP:0001743	Abnormality of the spleen	29851	ICOS	OMIM:240500
HP:0001743	Abnormality of the spleen	29851	ICOS	OMIM:607594
HP:0001743	Abnormality of the spleen	29851	ICOS	ORPHA:1572
HP:0001743	Abnormality of the spleen	930	CD19	OMIM:240500
HP:0001743	Abnormality of the spleen	930	CD19	ORPHA:1572
HP:0001743	Abnormality of the spleen	60561	RINT1	OMIM:618641
HP:0001743	Abnormality of the spleen	1493	CTLA4	OMIM:616100
HP:0001743	Abnormality of the spleen	1493	CTLA4	ORPHA:3162
HP:0001743	Abnormality of the spleen	1493	CTLA4	ORPHA:2584
HP:0001743	Abnormality of the spleen	54567	DLL4	OMIM:616589
HP:0001743	Abnormality of the spleen	1716	DGUOK	OMIM:251880
HP:0001743	Abnormality of the spleen	1716	DGUOK	OMIM:617068
HP:0001743	Abnormality of the spleen	1441	CSF3R	OMIM:162830
HP:0001743	Abnormality of the spleen	2035	EPB41	ORPHA:288
HP:0001743	Abnormality of the spleen	2035	EPB41	OMIM:611804
HP:0001743	Abnormality of the spleen	2995	GYPC	ORPHA:288
HP:0001743	Abnormality of the spleen	6710	SPTB	ORPHA:288
HP:0001743	Abnormality of the spleen	6710	SPTB	ORPHA:822
HP:0001743	Abnormality of the spleen	6710	SPTB	OMIM:616649
HP:0001743	Abnormality of the spleen	6708	SPTA1	ORPHA:288
HP:0001743	Abnormality of the spleen	6708	SPTA1	ORPHA:822
HP:0001743	Abnormality of the spleen	28755	TRAC	OMIM:615387
HP:0001743	Abnormality of the spleen	2623	GATA1	OMIM:314050
HP:0001743	Abnormality of the spleen	2623	GATA1	ORPHA:231393
HP:0001743	Abnormality of the spleen	2623	GATA1	ORPHA:79277
HP:0001743	Abnormality of the spleen	1371	CPOX	OMIM:618892
HP:0001743	Abnormality of the spleen	1371	CPOX	OMIM:121300
HP:0001743	Abnormality of the spleen	80739	MPIG6B	OMIM:617441
HP:0001743	Abnormality of the spleen	4645	MYO5B	OMIM:619868
HP:0001743	Abnormality of the spleen	3039	HBA1	ORPHA:163596
HP:0001743	Abnormality of the spleen	3039	HBA1	OMIM:613978
HP:0001743	Abnormality of the spleen	3040	HBA2	ORPHA:163596
HP:0001743	Abnormality of the spleen	3040	HBA2	OMIM:613978
HP:0001743	Abnormality of the spleen	10019	SH2B3	OMIM:133100
HP:0001743	Abnormality of the spleen	10019	SH2B3	ORPHA:3318
HP:0001743	Abnormality of the spleen	10019	SH2B3	OMIM:187950
HP:0001743	Abnormality of the spleen	10019	SH2B3	OMIM:254450
HP:0001743	Abnormality of the spleen	2057	EPOR	OMIM:133100
HP:0001743	Abnormality of the spleen	595	CCND1	ORPHA:29073
HP:0001743	Abnormality of the spleen	595	CCND1	ORPHA:52416
HP:0001743	Abnormality of the spleen	54914	FOCAD	OMIM:619991
HP:0001743	Abnormality of the spleen	27125	AFF4	OMIM:616368
HP:0001743	Abnormality of the spleen	5295	PIK3R1	OMIM:616005
HP:0001743	Abnormality of the spleen	286	ANK1	ORPHA:251066
HP:0001743	Abnormality of the spleen	286	ANK1	OMIM:182900
HP:0001743	Abnormality of the spleen	286	ANK1	ORPHA:822
HP:0001743	Abnormality of the spleen	285362	SUMF1	OMIM:272200
HP:0001743	Abnormality of the spleen	285362	SUMF1	ORPHA:585
HP:0001743	Abnormality of the spleen	64421	DCLRE1C	OMIM:603554
HP:0001743	Abnormality of the spleen	64421	DCLRE1C	OMIM:602450
HP:0001743	Abnormality of the spleen	64421	DCLRE1C	ORPHA:39041
HP:0001743	Abnormality of the spleen	2990	GUSB	ORPHA:584
HP:0001743	Abnormality of the spleen	2990	GUSB	OMIM:253220
HP:0001743	Abnormality of the spleen	8676	STX11	OMIM:603552
HP:0001743	Abnormality of the spleen	8676	STX11	ORPHA:540
HP:0001743	Abnormality of the spleen	5244	ABCB4	OMIM:602347
HP:0001743	Abnormality of the spleen	11311	VPS45	OMIM:615285
HP:0001743	Abnormality of the spleen	2542	SLC37A4	OMIM:619525
HP:0001743	Abnormality of the spleen	2542	SLC37A4	OMIM:232220
HP:0001743	Abnormality of the spleen	540	ATP7B	OMIM:277900
HP:0001743	Abnormality of the spleen	540	ATP7B	ORPHA:905
HP:0001743	Abnormality of the spleen	2683	B4GALT1	ORPHA:79332
HP:0001743	Abnormality of the spleen	4000	LMNA	ORPHA:280365
HP:0001743	Abnormality of the spleen	4000	LMNA	ORPHA:2348
HP:0001743	Abnormality of the spleen	2153	F5	ORPHA:131
HP:0001743	Abnormality of the spleen	5692	PSMB4	OMIM:617591
HP:0001743	Abnormality of the spleen	5698	PSMB9	OMIM:617591
HP:0001743	Abnormality of the spleen	79989	IFT56	OMIM:619534
HP:0001743	Abnormality of the spleen	5286	PIK3C2A	OMIM:618440
HP:0001743	Abnormality of the spleen	654	BMP6	ORPHA:465508
HP:0001743	Abnormality of the spleen	3077	HFE	ORPHA:465508
HP:0001743	Abnormality of the spleen	3077	HFE	OMIM:235200
HP:0001743	Abnormality of the spleen	54532	USP53	OMIM:619658
HP:0001743	Abnormality of the spleen	2184	FAH	OMIM:276700
HP:0001743	Abnormality of the spleen	2184	FAH	ORPHA:882
HP:0001743	Abnormality of the spleen	64127	NOD2	ORPHA:90340
HP:0001743	Abnormality of the spleen	51311	TLR8	OMIM:301078
HP:0001743	Abnormality of the spleen	4615	MYD88	ORPHA:33226
HP:0001743	Abnormality of the spleen	5825	ABCD3	OMIM:616278
HP:0001743	Abnormality of the spleen	5256	PHKA2	ORPHA:264580
HP:0001743	Abnormality of the spleen	5256	PHKA2	OMIM:306000
HP:0001743	Abnormality of the spleen	5261	PHKG2	ORPHA:264580
HP:0001743	Abnormality of the spleen	5261	PHKG2	OMIM:613027
HP:0001743	Abnormality of the spleen	344	APOC2	OMIM:207750
HP:0001743	Abnormality of the spleen	5277	PIGA	OMIM:301072
HP:0001743	Abnormality of the spleen	846	CASR	OMIM:239200
HP:0001743	Abnormality of the spleen	846	CASR	ORPHA:417
HP:0001743	Abnormality of the spleen	4594	MMUT	ORPHA:79312
HP:0001743	Abnormality of the spleen	149233	IL23R	ORPHA:117
HP:0001743	Abnormality of the spleen	3586	IL10	ORPHA:117
HP:0001743	Abnormality of the spleen	1230	CCR1	ORPHA:117
HP:0001743	Abnormality of the spleen	3592	IL12A	ORPHA:117
HP:0001743	Abnormality of the spleen	101928376	IL12A-AS1	ORPHA:117
HP:0001743	Abnormality of the spleen	3106	HLA-B	ORPHA:117
HP:0001743	Abnormality of the spleen	7099	TLR4	ORPHA:117
HP:0001743	Abnormality of the spleen	720	C4A	ORPHA:117
HP:0001743	Abnormality of the spleen	337867	UBAC2	ORPHA:117
HP:0001743	Abnormality of the spleen	51752	ERAP1	ORPHA:117
HP:0001743	Abnormality of the spleen	8302	KLRC4	ORPHA:117
HP:0001743	Abnormality of the spleen	5290	PIK3CA	OMIM:612918
HP:0001743	Abnormality of the spleen	6448	SGSH	OMIM:252900
HP:0001743	Abnormality of the spleen	331	XIAP	OMIM:300635
HP:0001743	Abnormality of the spleen	331	XIAP	OMIM:308240
HP:0001743	Abnormality of the spleen	22806	IKZF3	OMIM:619437
HP:0001743	Abnormality of the spleen	6916	TBXAS1	ORPHA:1802
HP:0001743	Abnormality of the spleen	596	BCL2	ORPHA:545
HP:0001743	Abnormality of the spleen	3492	IGH	ORPHA:545
HP:0001743	Abnormality of the spleen	3492	IGH	ORPHA:52416
HP:0001743	Abnormality of the spleen	3123	HLA-DRB1	ORPHA:545
HP:0001743	Abnormality of the spleen	3123	HLA-DRB1	ORPHA:85414
HP:0001743	Abnormality of the spleen	3123	HLA-DRB1	OMIM:181000
HP:0001743	Abnormality of the spleen	604	BCL6	ORPHA:545
HP:0001743	Abnormality of the spleen	959	CD40LG	OMIM:308230
HP:0001743	Abnormality of the spleen	23451	SF3B1	ORPHA:75564
HP:0001743	Abnormality of the spleen	29887	SNX10	ORPHA:667
HP:0001743	Abnormality of the spleen	29887	SNX10	OMIM:615085
HP:0001743	Abnormality of the spleen	5009	OTC	ORPHA:664
HP:0001743	Abnormality of the spleen	7372	UMPS	ORPHA:30
HP:0001743	Abnormality of the spleen	58484	NLRC4	OMIM:616050
HP:0001743	Abnormality of the spleen	57104	PNPLA2	ORPHA:565612
HP:0001743	Abnormality of the spleen	22861	NLRP1	OMIM:617388
HP:0001743	Abnormality of the spleen	7132	TNFRSF1A	ORPHA:32960
HP:0001743	Abnormality of the spleen	4068	SH2D1A	OMIM:308240
HP:0001743	Abnormality of the spleen	23218	NBEAL2	OMIM:139090
HP:0001743	Abnormality of the spleen	23218	NBEAL2	ORPHA:721
HP:0001743	Abnormality of the spleen	84061	MAGT1	OMIM:300853
HP:0001743	Abnormality of the spleen	3756	KCNH1	OMIM:135500
HP:0001743	Abnormality of the spleen	3756	KCNH1	ORPHA:3473
HP:0001743	Abnormality of the spleen	3394	IRF8	OMIM:226990
HP:0001743	Abnormality of the spleen	6718	AKR1D1	OMIM:235555
HP:0001743	Abnormality of the spleen	4864	NPC1	OMIM:257220
HP:0001743	Abnormality of the spleen	1312	COMT	ORPHA:567
HP:0001743	Abnormality of the spleen	221037	JMJD1C	ORPHA:567
HP:0001743	Abnormality of the spleen	2812	GP1BB	ORPHA:567
HP:0001743	Abnormality of the spleen	6239	RREB1	ORPHA:567
HP:0001743	Abnormality of the spleen	6899	TBX1	ORPHA:567
HP:0001743	Abnormality of the spleen	6899	TBX1	OMIM:188400
HP:0001743	Abnormality of the spleen	7290	HIRA	ORPHA:567
HP:0001743	Abnormality of the spleen	9632	SEC24C	ORPHA:567
HP:0001743	Abnormality of the spleen	7353	UFD1	ORPHA:567
HP:0001743	Abnormality of the spleen	421	ARVCF	ORPHA:567
HP:0001743	Abnormality of the spleen	7389	UROD	ORPHA:95159
HP:0001743	Abnormality of the spleen	212	ALAS2	ORPHA:75563
HP:0001743	Abnormality of the spleen	55630	SLC39A4	OMIM:201100
HP:0001743	Abnormality of the spleen	546	ATRX	ORPHA:231401
HP:0001743	Abnormality of the spleen	55340	GIMAP5	OMIM:619463
HP:0001743	Abnormality of the spleen	8883	NAE1	OMIM:620210
HP:0001743	Abnormality of the spleen	84701	COX4I2	OMIM:612714
HP:0001743	Abnormality of the spleen	650	BMP2	OMIM:235200
HP:0001743	Abnormality of the spleen	8943	AP3D1	OMIM:617050
HP:0001743	Abnormality of the spleen	57003	CCDC47	OMIM:618268
HP:0001743	Abnormality of the spleen	51095	TRNT1	OMIM:616084
HP:0001743	Abnormality of the spleen	6023	RMRP	ORPHA:39041
HP:0001743	Abnormality of the spleen	55636	CHD7	ORPHA:39041
HP:0001743	Abnormality of the spleen	3981	LIG4	ORPHA:39041
HP:0001743	Abnormality of the spleen	100	ADA	ORPHA:39041
HP:0001743	Abnormality of the spleen	100	ADA	OMIM:102700
HP:0001743	Abnormality of the spleen	3561	IL2RG	ORPHA:39041
HP:0001743	Abnormality of the spleen	207	AKT1	ORPHA:744
HP:0001743	Abnormality of the spleen	207	AKT1	OMIM:176920
HP:0001743	Abnormality of the spleen	7504	XK	OMIM:300842
HP:0001743	Abnormality of the spleen	10483	SEC23B	OMIM:224100
HP:0001743	Abnormality of the spleen	60468	BACH2	OMIM:618394
HP:0001743	Abnormality of the spleen	226	ALDOA	OMIM:611881
HP:0001743	Abnormality of the spleen	3557	IL1RN	OMIM:612852
HP:0001743	Abnormality of the spleen	91662	NLRP12	OMIM:611762
HP:0001743	Abnormality of the spleen	2799	GNS	OMIM:252940
HP:0001743	Abnormality of the spleen	5264	PHYH	ORPHA:773
HP:0001743	Abnormality of the spleen	5191	PEX7	ORPHA:773
HP:0001743	Abnormality of the spleen	940	CD28	ORPHA:3162
HP:0001743	Abnormality of the spleen	940	CD28	ORPHA:2584
HP:0001743	Abnormality of the spleen	7133	TNFRSF1B	ORPHA:3162
HP:0001743	Abnormality of the spleen	7133	TNFRSF1B	ORPHA:2584
HP:0001743	Abnormality of the spleen	7390	UROS	OMIM:263700
HP:0001743	Abnormality of the spleen	7390	UROS	ORPHA:79277
HP:0001743	Abnormality of the spleen	4938	OAS1	OMIM:618042
HP:0001743	Abnormality of the spleen	8651	SOCS1	OMIM:619375
HP:0001743	Abnormality of the spleen	3295	HSD17B4	OMIM:261515
HP:0001743	Abnormality of the spleen	138050	HGSNAT	OMIM:252930
HP:0001743	Abnormality of the spleen	5313	PKLR	ORPHA:766
HP:0001743	Abnormality of the spleen	5313	PKLR	OMIM:266200
HP:0001743	Abnormality of the spleen	6850	SYK	OMIM:619381
HP:0001743	Abnormality of the spleen	613	BCR	ORPHA:521
HP:0001743	Abnormality of the spleen	25	ABL1	ORPHA:521
HP:0001743	Abnormality of the spleen	51626	DYNC2LI1	OMIM:617088
HP:0001743	Abnormality of the spleen	5257	PHKB	OMIM:261750
HP:0001743	Abnormality of the spleen	5257	PHKB	ORPHA:79240
HP:0001743	Abnormality of the spleen	146059	CDAN1	OMIM:224120
HP:0001743	Abnormality of the spleen	9652	SKIC3	ORPHA:84064
HP:0001743	Abnormality of the spleen	9652	SKIC3	OMIM:222470
HP:0001743	Abnormality of the spleen	6499	SKIC2	ORPHA:84064
HP:0001743	Abnormality of the spleen	5696	PSMB8	OMIM:256040
HP:0001743	Abnormality of the spleen	4669	NAGLU	OMIM:252920
HP:0001743	Abnormality of the spleen	26276	VPS33B	OMIM:620010
HP:0001743	Abnormality of the spleen	7066	THPO	ORPHA:71493
HP:0001743	Abnormality of the spleen	7066	THPO	OMIM:187950
HP:0001743	Abnormality of the spleen	2811	GP1BA	OMIM:153670
HP:0001743	Abnormality of the spleen	144811	LACC1	ORPHA:85414
HP:0001743	Abnormality of the spleen	4282	MIF	ORPHA:85414
HP:0001743	Abnormality of the spleen	3569	IL6	ORPHA:85414
HP:0001743	Abnormality of the spleen	55532	SLC30A10	ORPHA:309854
HP:0001743	Abnormality of the spleen	673	BRAF	OMIM:115150
HP:0001743	Abnormality of the spleen	3815	KIT	ORPHA:98849
HP:0001743	Abnormality of the spleen	987	LRBA	OMIM:614700
HP:0001743	Abnormality of the spleen	2038	EPB42	ORPHA:822
HP:0001743	Abnormality of the spleen	2038	EPB42	OMIM:612690
HP:0001743	Abnormality of the spleen	23149	FCHO1	OMIM:619164
HP:0001743	Abnormality of the spleen	1352	COX10	OMIM:619046
HP:0001743	Abnormality of the spleen	841	CASP8	OMIM:607271
HP:0001743	Abnormality of the spleen	8647	ABCB11	OMIM:601847
HP:0001743	Abnormality of the spleen	5699	PSMB10	OMIM:619175
HP:0001743	Abnormality of the spleen	348	APOE	OMIM:269600
HP:0001743	Abnormality of the spleen	348	APOE	ORPHA:158029
HP:0001743	Abnormality of the spleen	5468	PPARG	ORPHA:79083
HP:0001743	Abnormality of the spleen	686	BTD	OMIM:253260
HP:0001743	Abnormality of the spleen	8792	TNFRSF11A	OMIM:612301
HP:0001743	Abnormality of the spleen	10555	AGPAT2	OMIM:608594
HP:0001743	Abnormality of the spleen	56984	PSMG2	OMIM:619183
HP:0001743	Abnormality of the spleen	1717	DHCR7	OMIM:270400
HP:0001743	Abnormality of the spleen	23230	VPS13A	ORPHA:2388
HP:0001743	Abnormality of the spleen	526	ATP6V1B2	ORPHA:3473
HP:0001743	Abnormality of the spleen	3782	KCNN3	ORPHA:3473
HP:0001743	Abnormality of the spleen	175	AGA	ORPHA:93
HP:0001743	Abnormality of the spleen	4853	NOTCH2	ORPHA:955
HP:0001743	Abnormality of the spleen	338328	GPIHBP1	OMIM:615947
HP:0001743	Abnormality of the spleen	80216	ALPK1	OMIM:614979
HP:0001743	Abnormality of the spleen	4069	LYZ	OMIM:105200
HP:0001743	Abnormality of the spleen	335	APOA1	OMIM:105200
HP:0001743	Abnormality of the spleen	567	B2M	OMIM:105200
HP:0001743	Abnormality of the spleen	472	ATM	ORPHA:52416
HP:0001743	Abnormality of the spleen	9508	ADAMTS3	ORPHA:2136
HP:0001743	Abnormality of the spleen	147372	CCBE1	ORPHA:2136
HP:0001743	Abnormality of the spleen	79633	FAT4	ORPHA:2136
HP:0001743	Abnormality of the spleen	2624	GATA2	ORPHA:3226
HP:0001743	Abnormality of the spleen	3662	IRF4	ORPHA:3452
HP:0001743	Abnormality of the spleen	50943	FOXP3	ORPHA:37042
HP:0001743	Abnormality of the spleen	50628	GEMIN4	OMIM:617913
HP:0001743	Abnormality of the spleen	57817	HAMP	OMIM:613313
HP:0001743	Abnormality of the spleen	9780	PIEZO1	ORPHA:3202
HP:0001743	Abnormality of the spleen	9780	PIEZO1	OMIM:616843
HP:0001743	Abnormality of the spleen	9780	PIEZO1	OMIM:194380
HP:0001743	Abnormality of the spleen	64241	ABCG8	OMIM:210250
HP:0001743	Abnormality of the spleen	93183	PIGM	OMIM:610293
HP:0001743	Abnormality of the spleen	284119	CAVIN1	OMIM:613327
HP:0001743	Abnormality of the spleen	219285	SAMD9L	ORPHA:2585
HP:0001743	Abnormality of the spleen	56052	ALG1	OMIM:608540
HP:0001743	Abnormality of the spleen	7167	TPI1	OMIM:615512
HP:0001743	Abnormality of the spleen	26160	IFT172	OMIM:615630
HP:0001743	Abnormality of the spleen	84529	CDIN1	OMIM:615631
HP:0001743	Abnormality of the spleen	5293	PIK3CD	OMIM:615513
HP:0001743	Abnormality of the spleen	5156	PDGFRA	OMIM:607685
HP:0001743	Abnormality of the spleen	1776	DNASE1L3	ORPHA:36412
HP:0001743	Abnormality of the spleen	4173	MCM4	OMIM:609981
HP:0001743	Abnormality of the spleen	79650	USB1	OMIM:604173
HP:0001743	Abnormality of the spleen	79650	USB1	ORPHA:1775
HP:0001743	Abnormality of the spleen	411	ARSB	OMIM:253200
HP:0001743	Abnormality of the spleen	669	BPGM	OMIM:222800
HP:0001743	Abnormality of the spleen	9948	WDR1	OMIM:150550
HP:0001743	Abnormality of the spleen	4792	NFKBIA	OMIM:612132
HP:0001743	Abnormality of the spleen	9076	CLDN1	ORPHA:59303
HP:0001743	Abnormality of the spleen	9076	CLDN1	OMIM:607626
HP:0001743	Abnormality of the spleen	2821	GPI	OMIM:613470
HP:0001743	Abnormality of the spleen	6097	RORC	OMIM:616622
HP:0001743	Abnormality of the spleen	10616	RBCK1	OMIM:615895
HP:0001743	Abnormality of the spleen	56244	BTNL2	OMIM:612387
HP:0001743	Abnormality of the spleen	3248	HPGD	ORPHA:2796
HP:0001743	Abnormality of the spleen	6578	SLCO2A1	ORPHA:2796
HP:0001743	Abnormality of the spleen	57511	COG6	OMIM:614576
HP:0001743	Abnormality of the spleen	56623	INPP5E	ORPHA:1454
HP:0001743	Abnormality of the spleen	4790	NFKB1	ORPHA:1572
HP:0001743	Abnormality of the spleen	4791	NFKB2	ORPHA:1572
HP:0001743	Abnormality of the spleen	8742	TNFSF12	ORPHA:1572
HP:0001743	Abnormality of the spleen	931	MS4A1	ORPHA:1572
HP:0001743	Abnormality of the spleen	975	CD81	ORPHA:1572
HP:0001743	Abnormality of the spleen	359948	IRF2BP2	ORPHA:1572
HP:0001743	Abnormality of the spleen	2328	FMO3	OMIM:602079
HP:0001743	Abnormality of the spleen	5265	SERPINA1	OMIM:613490
HP:0001743	Abnormality of the spleen	10367	MICU1	OMIM:615673
HP:0001743	Abnormality of the spleen	26580	BSCL2	OMIM:269700
HP:0001743	Abnormality of the spleen	3702	ITK	OMIM:613011
HP:0001743	Abnormality of the spleen	2517	FUCA1	OMIM:230000
HP:0001743	Abnormality of the spleen	2548	GAA	OMIM:232300
HP:0001743	Abnormality of the spleen	5205	ATP8B1	OMIM:211600
HP:0001743	Abnormality of the spleen	2065	ERBB3	OMIM:133180
HP:0001743	Abnormality of the spleen	1718	DHCR24	ORPHA:35107
HP:0001743	Abnormality of the spleen	4893	NRAS	OMIM:614470
HP:0001743	Abnormality of the spleen	3098	HK1	OMIM:235700
HP:0001743	Abnormality of the spleen	3931	LCAT	ORPHA:79292
HP:0001743	Abnormality of the spleen	100506658	OCLN	OMIM:251290
HP:0001743	Abnormality of the spleen	10577	NPC2	OMIM:607625
HP:0001743	Abnormality of the spleen	2819	GPD1	OMIM:614480
HP:0001743	Abnormality of the spleen	26503	SLC17A5	OMIM:269920
HP:0001743	Abnormality of the spleen	27040	LAT	OMIM:617514
HP:0001743	Abnormality of the spleen	4724	NDUFS4	OMIM:252010
HP:0001743	Abnormality of the spleen	81570	CLPB	OMIM:619813
HP:0001743	Abnormality of the spleen	8737	RIPK1	OMIM:618852
HP:0001743	Abnormality of the spleen	10464	PIBF1	OMIM:617767
HP:0001743	Abnormality of the spleen	80169	CTC1	ORPHA:1775
HP:0001743	Abnormality of the spleen	26277	TINF2	ORPHA:1775
HP:0001743	Abnormality of the spleen	55651	NHP2	ORPHA:1775
HP:0001743	Abnormality of the spleen	55135	WRAP53	ORPHA:1775
HP:0001743	Abnormality of the spleen	51750	RTEL1	ORPHA:1775
HP:0001743	Abnormality of the spleen	4869	NPM1	ORPHA:1775
HP:0001743	Abnormality of the spleen	7012	TERC	ORPHA:1775
HP:0001743	Abnormality of the spleen	55505	NOP10	ORPHA:1775
HP:0001743	Abnormality of the spleen	5073	PARN	ORPHA:1775
HP:0001743	Abnormality of the spleen	7015	TERT	ORPHA:1775
HP:0001743	Abnormality of the spleen	1736	DKC1	ORPHA:1775
HP:0001743	Abnormality of the spleen	7298	TYMS	ORPHA:1775
HP:0001743	Abnormality of the spleen	3636	INPPL1	ORPHA:2746
HP:0001743	Abnormality of the spleen	6929	TCF3	OMIM:619824
HP:0001743	Abnormality of the spleen	2582	GALE	OMIM:230350
HP:0001743	Abnormality of the spleen	27019	DNAI1	OMIM:244400
HP:0001743	Abnormality of the spleen	27019	DNAI1	ORPHA:244
HP:0001743	Abnormality of the spleen	7547	ZIC3	OMIM:306955
HP:0001743	Abnormality of the spleen	2294	FOXF1	OMIM:265380
HP:0001743	Abnormality of the spleen	2294	FOXF1	ORPHA:210122
HP:0001743	Abnormality of the spleen	326	AIRE	OMIM:240300
HP:0001743	Abnormality of the spleen	2657	GDF1	OMIM:208530
HP:0001743	Abnormality of the spleen	55329	MNS1	OMIM:618948
HP:0001743	Abnormality of the spleen	4087	SMAD2	OMIM:619657
HP:0001743	Abnormality of the spleen	284086	NEK8	OMIM:615415
HP:0001743	Abnormality of the spleen	7473	WNT3	OMIM:273395
HP:0001743	Abnormality of the spleen	4838	NODAL	OMIM:270100
HP:0001743	Abnormality of the spleen	84876	ORAI1	ORPHA:3204
HP:0001743	Abnormality of the spleen	53335	BCL11A	ORPHA:251380
HP:0001743	Abnormality of the spleen	10661	KLF1	ORPHA:251380
HP:0001743	Abnormality of the spleen	3047	HBG1	ORPHA:251380
HP:0001743	Abnormality of the spleen	3048	HBG2	ORPHA:251380
HP:0001743	Abnormality of the spleen	25981	DNAH1	ORPHA:244
HP:0001743	Abnormality of the spleen	115948	ODAD3	ORPHA:244
HP:0001743	Abnormality of the spleen	54768	HYDIN	ORPHA:244
HP:0001743	Abnormality of the spleen	352909	DNAAF3	ORPHA:244
HP:0001743	Abnormality of the spleen	27148	STK36	ORPHA:244
HP:0001743	Abnormality of the spleen	51314	NME8	ORPHA:244
HP:0001743	Abnormality of the spleen	92749	DRC1	ORPHA:244
HP:0001743	Abnormality of the spleen	54970	TTC12	ORPHA:244
HP:0001743	Abnormality of the spleen	152110	NEK10	ORPHA:244
HP:0001743	Abnormality of the spleen	8481	OFD1	ORPHA:244
HP:0001743	Abnormality of the spleen	2302	FOXJ1	ORPHA:244
HP:0001743	Abnormality of the spleen	221421	RSPH9	ORPHA:244
HP:0001743	Abnormality of the spleen	85478	CCDC65	ORPHA:244
HP:0001743	Abnormality of the spleen	55036	CCDC40	ORPHA:244
HP:0001743	Abnormality of the spleen	51364	ZMYND10	ORPHA:244
HP:0001743	Abnormality of the spleen	64446	DNAI2	ORPHA:244
HP:0001743	Abnormality of the spleen	6674	SPAG1	ORPHA:244
HP:0001743	Abnormality of the spleen	83544	DNAL1	ORPHA:244
HP:0001743	Abnormality of the spleen	89765	RSPH1	ORPHA:244
HP:0001743	Abnormality of the spleen	83538	ODAD4	ORPHA:244
HP:0001743	Abnormality of the spleen	200373	CFAP221	ORPHA:244
HP:0001743	Abnormality of the spleen	374407	DNAJB13	ORPHA:244
HP:0001743	Abnormality of the spleen	55172	DNAAF2	ORPHA:244
HP:0001743	Abnormality of the spleen	161582	DNAAF4	ORPHA:244
HP:0001743	Abnormality of the spleen	2622	GAS8	ORPHA:244
HP:0001743	Abnormality of the spleen	23639	DNAAF11	ORPHA:244
HP:0001743	Abnormality of the spleen	345895	RSPH4A	ORPHA:244
HP:0001743	Abnormality of the spleen	54919	DNAAF5	ORPHA:244
HP:0001743	Abnormality of the spleen	6103	RPGR	ORPHA:244
HP:0001743	Abnormality of the spleen	388389	CCDC103	ORPHA:244
HP:0001743	Abnormality of the spleen	93233	ODAD1	ORPHA:244
HP:0001743	Abnormality of the spleen	55130	ODAD2	ORPHA:244
HP:0001743	Abnormality of the spleen	1767	DNAH5	ORPHA:244
HP:0001743	Abnormality of the spleen	83861	RSPH3	ORPHA:244
HP:0001743	Abnormality of the spleen	345643	MCIDAS	ORPHA:244
HP:0001743	Abnormality of the spleen	56683	CFAP298	ORPHA:244
HP:0001743	Abnormality of the spleen	79925	SPEF2	ORPHA:244
HP:0001743	Abnormality of the spleen	10309	CCNO	ORPHA:244
HP:0001743	Abnormality of the spleen	115399	LRRC56	ORPHA:244
HP:0001743	Abnormality of the spleen	139212	DNAAF6	ORPHA:244
HP:0001743	Abnormality of the spleen	123872	DNAAF1	ORPHA:244
HP:0001743	Abnormality of the spleen	85016	CFAP300	ORPHA:244
HP:0001743	Abnormality of the spleen	339829	CCDC39	ORPHA:244
HP:0001743	Abnormality of the spleen	8701	DNAH11	ORPHA:244
HP:0001743	Abnormality of the spleen	1770	DNAH9	ORPHA:244
HP:0001743	Abnormality of the spleen	246176	GAS2L2	ORPHA:244
HP:0001743	Abnormality of the spleen	9839	ZEB2	ORPHA:261537
HP:0001743	Abnormality of the spleen	9839	ZEB2	ORPHA:261552
HP:0001743	Abnormality of the spleen	84314	TMEM107	ORPHA:564
HP:0001743	Abnormality of the spleen	26123	TCTN3	ORPHA:564
HP:0001743	Abnormality of the spleen	79867	TCTN2	ORPHA:564
HP:0001743	Abnormality of the spleen	80776	B9D2	ORPHA:564
HP:0001743	Abnormality of the spleen	79600	TCTN1	ORPHA:564
HP:0001743	Abnormality of the spleen	57096	RPGRIP1	ORPHA:564
HP:0001743	Abnormality of the spleen	79848	CSPP1	ORPHA:564
HP:0001743	Abnormality of the spleen	80184	CEP290	ORPHA:564
HP:0001743	Abnormality of the spleen	51259	TMEM216	ORPHA:564
HP:0001743	Abnormality of the spleen	57545	CC2D2A	ORPHA:564
HP:0001743	Abnormality of the spleen	79583	TMEM231	ORPHA:564
HP:0001743	Abnormality of the spleen	91147	TMEM67	ORPHA:564
HP:0001743	Abnormality of the spleen	79770	TXNDC15	ORPHA:564
HP:0001743	Abnormality of the spleen	27077	B9D1	ORPHA:564
HP:0001743	Abnormality of the spleen	23322	RPGRIP1L	ORPHA:564
HP:0001743	Abnormality of the spleen	54903	MKS1	ORPHA:564
HP:0001743	Abnormality of the spleen	54903	MKS1	OMIM:249000
HP:0001743	Abnormality of the spleen	65062	TMEM237	ORPHA:564
HP:0001743	Abnormality of the spleen	27031	NPHP3	OMIM:208540
HP:0001743	Abnormality of the spleen	3162	HMOX1	OMIM:614034
HP:0001743	Abnormality of the spleen	90416	CCDC32	OMIM:619123
HP:0001743	Abnormality of the spleen	4613	MYCN	OMIM:164280
HP:0001743	Abnormality of the spleen	7291	TWIST1	OMIM:617746
HP:0001743	Abnormality of the spleen	55997	CFC1	OMIM:605376
HP:0001743	Abnormality of the spleen	3921	RPSA	OMIM:271400
HP:0001743	Abnormality of the spleen	745	MYRF	OMIM:618280
HP:0001743	Abnormality of the spleen	157570	ESCO2	OMIM:268300
HP:0001743	Abnormality of the spleen	7490	WT1	OMIM:608978
HP:0001743	Abnormality of the spleen	537	ATP6AP1	OMIM:300972
HP:0001743	Abnormality of the spleen	1387	CREBBP	OMIM:180849
HP:0001743	Abnormality of the spleen	2033	EP300	OMIM:180849
HP:0001743	Abnormality of the spleen	8425	LTBP4	OMIM:613177
HP:0001743	Abnormality of the spleen	55012	PPP2R3C	OMIM:618419
HP:0001743	Abnormality of the spleen	5557	PRIM1	OMIM:620005
HP:0001743	Abnormality of the spleen	55770	EXOC2	OMIM:619306
HP:0001743	Abnormality of the spleen	53834	FGFRL1	OMIM:194190
HP:0001743	Abnormality of the spleen	1487	CTBP1	OMIM:194190
HP:0001743	Abnormality of the spleen	3954	LETM1	OMIM:194190
HP:0001743	Abnormality of the spleen	7468	NSD2	OMIM:194190
HP:0001743	Abnormality of the spleen	10815	CPLX1	OMIM:194190
HP:0001743	Abnormality of the spleen	1063	CENPF	OMIM:243605
HP:0001743	Abnormality of the spleen	219844	HYLS1	OMIM:236680
HP:0001743	Abnormality of the spleen	2239	GPC4	ORPHA:373
HP:0001743	Abnormality of the spleen	2239	GPC4	OMIM:312870
HP:0001743	Abnormality of the spleen	2719	GPC3	ORPHA:373
HP:0001743	Abnormality of the spleen	2719	GPC3	OMIM:312870
HP:0001743	Abnormality of the spleen	8565	YARS1	OMIM:619418
HP:0001743	Abnormality of the spleen	57539	WDR35	OMIM:613610
HP:0001743	Abnormality of the spleen	50937	CDON	OMIM:614226
HP:0001743	Abnormality of the spleen	118856	MMP21	OMIM:616749
HP:0001743	Abnormality of the spleen	51715	RAB23	OMIM:201000
HP:0001743	Abnormality of the spleen	51715	RAB23	ORPHA:65759
HP:0001743	Abnormality of the spleen	55159	RFWD3	OMIM:617784
HP:0001743	Abnormality of the spleen	25790	CFAP45	OMIM:619608
HP:0001743	Abnormality of the spleen	1954	MEGF8	ORPHA:65759
HP:0001743	Abnormality of the spleen	9968	MED12	OMIM:301068
HP:0001743	Abnormality of the spleen	171023	ASXL1	ORPHA:98850
HP:0001743	Abnormality of the spleen	54790	TET2	ORPHA:98850
HP:0001743	Abnormality of the spleen	867	CBL	ORPHA:98850
HP:0001743	Abnormality of the spleen	861	RUNX1	ORPHA:98850
HP:0001743	Abnormality of the spleen	6427	SRSF2	ORPHA:98850
HP:0001743	Abnormality of the spleen	355	FAS	ORPHA:3261
HP:0001743	Abnormality of the spleen	356	FASLG	ORPHA:3261
HP:0001743	Abnormality of the spleen	5580	PRKCD	ORPHA:3261
HP:0001743	Abnormality of the spleen	843	CASP10	ORPHA:3261
HP:0001743	Abnormality of the spleen	10125	RASGRP1	ORPHA:3261
HP:0001743	Abnormality of the spleen	6609	SMPD1	ORPHA:77293
HP:0001743	Abnormality of the spleen	2629	GBA1	OMIM:230800
HP:0001743	Abnormality of the spleen	2629	GBA1	ORPHA:77259
HP:0001743	Abnormality of the spleen	3043	HBB	ORPHA:231226
HP:0001743	Abnormality of the spleen	3043	HBB	ORPHA:231214
HP:0001743	Abnormality of the spleen	83737	ITCH	OMIM:613385
HP:0001743	Abnormality of the spleen	83737	ITCH	ORPHA:228426
HP:0001743	Abnormality of the spleen	7289	TULP3	OMIM:619902
HP:0001743	Abnormality of the spleen	3988	LIPA	OMIM:278000
HP:0001743	Abnormality of the spleen	4851	NOTCH1	OMIM:616028
HP:0001743	Abnormality of the spleen	199221	DZIP1L	ORPHA:731
HP:0001743	Abnormality of the spleen	5314	PKHD1	ORPHA:731
HP:0001743	Abnormality of the spleen	5660	PSAP	OMIM:610539
HP:0001743	Abnormality of the spleen	950	SCARB2	ORPHA:77259
HP:0001743	Abnormality of the spleen	4598	MVK	OMIM:610377
HP:0001743	Abnormality of the spleen	7174	TPP2	OMIM:619220
HP:0001743	Abnormality of the spleen	54809	SAMD9	OMIM:617053
HP:0001743	Abnormality of the spleen	55388	MCM10	OMIM:619313
HP:0001743	Abnormality of the spleen	5649	RELN	ORPHA:89844
HP:0001743	Abnormality of the spleen	10300	KATNB1	ORPHA:89844
HP:0001743	Abnormality of the spleen	54820	NDE1	ORPHA:89844
HP:0001743	Abnormality of the spleen	63901	FAM111A	OMIM:602361
HP:0001743	Abnormality of the spleen	6786	STIM1	OMIM:185070
HP:0001743	Abnormality of the spleen	93	ACVR2B	OMIM:613751
HP:0001743	Abnormality of the spleen	2243	FGA	OMIM:202400
HP:0001743	Abnormality of the spleen	2244	FGB	OMIM:202400
HP:0001743	Abnormality of the spleen	2266	FGG	OMIM:202400
HP:0001743	Abnormality of the spleen	64220	STRA6	OMIM:601186
HP:0001743	Abnormality of the spleen	5915	RARB	ORPHA:2470
HP:0001743	Abnormality of the spleen	374879	ZNF699	OMIM:619488
HP:0001743	Abnormality of the spleen	2934	GSN	ORPHA:85448
HP:0001743	Abnormality of the spleen	169792	GLIS3	OMIM:610199
HP:0001743	Abnormality of the spleen	55503	TRPV6	OMIM:618188
HP:0001743	Abnormality of the spleen	26040	SETBP1	OMIM:269150
HP:0001746	Asplenia	27019	DNAI1	OMIM:244400
HP:0001746	Asplenia	27019	DNAI1	ORPHA:244
HP:0001746	Asplenia	7547	ZIC3	OMIM:306955
HP:0001746	Asplenia	2294	FOXF1	OMIM:265380
HP:0001746	Asplenia	2294	FOXF1	ORPHA:210122
HP:0001746	Asplenia	326	AIRE	OMIM:240300
HP:0001746	Asplenia	2657	GDF1	OMIM:208530
HP:0001746	Asplenia	55329	MNS1	OMIM:618948
HP:0001746	Asplenia	4087	SMAD2	OMIM:619657
HP:0001746	Asplenia	284086	NEK8	OMIM:615415
HP:0001746	Asplenia	7473	WNT3	OMIM:273395
HP:0001746	Asplenia	4838	NODAL	OMIM:270100
HP:0001746	Asplenia	84876	ORAI1	ORPHA:3204
HP:0001746	Asplenia	6786	STIM1	ORPHA:3204
HP:0001746	Asplenia	6786	STIM1	OMIM:185070
HP:0001746	Asplenia	3043	HBB	ORPHA:251380
HP:0001746	Asplenia	53335	BCL11A	ORPHA:251380
HP:0001746	Asplenia	10661	KLF1	ORPHA:251380
HP:0001746	Asplenia	3047	HBG1	ORPHA:251380
HP:0001746	Asplenia	3048	HBG2	ORPHA:251380
HP:0001746	Asplenia	25981	DNAH1	ORPHA:244
HP:0001746	Asplenia	115948	ODAD3	ORPHA:244
HP:0001746	Asplenia	54768	HYDIN	ORPHA:244
HP:0001746	Asplenia	352909	DNAAF3	ORPHA:244
HP:0001746	Asplenia	27148	STK36	ORPHA:244
HP:0001746	Asplenia	51314	NME8	ORPHA:244
HP:0001746	Asplenia	92749	DRC1	ORPHA:244
HP:0001746	Asplenia	54970	TTC12	ORPHA:244
HP:0001746	Asplenia	152110	NEK10	ORPHA:244
HP:0001746	Asplenia	8481	OFD1	ORPHA:244
HP:0001746	Asplenia	2302	FOXJ1	ORPHA:244
HP:0001746	Asplenia	221421	RSPH9	ORPHA:244
HP:0001746	Asplenia	85478	CCDC65	ORPHA:244
HP:0001746	Asplenia	55036	CCDC40	ORPHA:244
HP:0001746	Asplenia	51364	ZMYND10	ORPHA:244
HP:0001746	Asplenia	64446	DNAI2	ORPHA:244
HP:0001746	Asplenia	6674	SPAG1	ORPHA:244
HP:0001746	Asplenia	83544	DNAL1	ORPHA:244
HP:0001746	Asplenia	89765	RSPH1	ORPHA:244
HP:0001746	Asplenia	83538	ODAD4	ORPHA:244
HP:0001746	Asplenia	200373	CFAP221	ORPHA:244
HP:0001746	Asplenia	374407	DNAJB13	ORPHA:244
HP:0001746	Asplenia	55172	DNAAF2	ORPHA:244
HP:0001746	Asplenia	161582	DNAAF4	ORPHA:244
HP:0001746	Asplenia	2622	GAS8	ORPHA:244
HP:0001746	Asplenia	23639	DNAAF11	ORPHA:244
HP:0001746	Asplenia	345895	RSPH4A	ORPHA:244
HP:0001746	Asplenia	54919	DNAAF5	ORPHA:244
HP:0001746	Asplenia	6103	RPGR	ORPHA:244
HP:0001746	Asplenia	388389	CCDC103	ORPHA:244
HP:0001746	Asplenia	93233	ODAD1	ORPHA:244
HP:0001746	Asplenia	55130	ODAD2	ORPHA:244
HP:0001746	Asplenia	1767	DNAH5	ORPHA:244
HP:0001746	Asplenia	83861	RSPH3	ORPHA:244
HP:0001746	Asplenia	345643	MCIDAS	ORPHA:244
HP:0001746	Asplenia	56683	CFAP298	ORPHA:244
HP:0001746	Asplenia	79925	SPEF2	ORPHA:244
HP:0001746	Asplenia	10309	CCNO	ORPHA:244
HP:0001746	Asplenia	115399	LRRC56	ORPHA:244
HP:0001746	Asplenia	139212	DNAAF6	ORPHA:244
HP:0001746	Asplenia	123872	DNAAF1	ORPHA:244
HP:0001746	Asplenia	85016	CFAP300	ORPHA:244
HP:0001746	Asplenia	339829	CCDC39	ORPHA:244
HP:0001746	Asplenia	8701	DNAH11	ORPHA:244
HP:0001746	Asplenia	1770	DNAH9	ORPHA:244
HP:0001746	Asplenia	246176	GAS2L2	ORPHA:244
HP:0001746	Asplenia	9839	ZEB2	ORPHA:261537
HP:0001746	Asplenia	9839	ZEB2	ORPHA:261552
HP:0001746	Asplenia	84314	TMEM107	ORPHA:564
HP:0001746	Asplenia	26123	TCTN3	ORPHA:564
HP:0001746	Asplenia	79867	TCTN2	ORPHA:564
HP:0001746	Asplenia	80776	B9D2	ORPHA:564
HP:0001746	Asplenia	79600	TCTN1	ORPHA:564
HP:0001746	Asplenia	57096	RPGRIP1	ORPHA:564
HP:0001746	Asplenia	79848	CSPP1	ORPHA:564
HP:0001746	Asplenia	80184	CEP290	ORPHA:564
HP:0001746	Asplenia	51259	TMEM216	ORPHA:564
HP:0001746	Asplenia	57545	CC2D2A	ORPHA:564
HP:0001746	Asplenia	79583	TMEM231	ORPHA:564
HP:0001746	Asplenia	91147	TMEM67	ORPHA:564
HP:0001746	Asplenia	79770	TXNDC15	ORPHA:564
HP:0001746	Asplenia	27077	B9D1	ORPHA:564
HP:0001746	Asplenia	23322	RPGRIP1L	ORPHA:564
HP:0001746	Asplenia	54903	MKS1	ORPHA:564
HP:0001746	Asplenia	54903	MKS1	OMIM:249000
HP:0001746	Asplenia	65062	TMEM237	ORPHA:564
HP:0001746	Asplenia	27031	NPHP3	OMIM:208540
HP:0001746	Asplenia	3162	HMOX1	OMIM:614034
HP:0001746	Asplenia	90416	CCDC32	OMIM:619123
HP:0001746	Asplenia	4613	MYCN	OMIM:164280
HP:0001746	Asplenia	7291	TWIST1	OMIM:617746
HP:0001746	Asplenia	55997	CFC1	OMIM:605376
HP:0001746	Asplenia	3921	RPSA	OMIM:271400
HP:0001746	Asplenia	63901	FAM111A	OMIM:602361
HP:0001747	Accessory spleen	745	MYRF	OMIM:618280
HP:0001747	Accessory spleen	157570	ESCO2	OMIM:268300
HP:0001747	Accessory spleen	84314	TMEM107	ORPHA:564
HP:0001747	Accessory spleen	26123	TCTN3	ORPHA:564
HP:0001747	Accessory spleen	79867	TCTN2	ORPHA:564
HP:0001747	Accessory spleen	80776	B9D2	ORPHA:564
HP:0001747	Accessory spleen	79600	TCTN1	ORPHA:564
HP:0001747	Accessory spleen	57096	RPGRIP1	ORPHA:564
HP:0001747	Accessory spleen	79848	CSPP1	ORPHA:564
HP:0001747	Accessory spleen	80184	CEP290	ORPHA:564
HP:0001747	Accessory spleen	51259	TMEM216	ORPHA:564
HP:0001747	Accessory spleen	57545	CC2D2A	ORPHA:564
HP:0001747	Accessory spleen	79583	TMEM231	ORPHA:564
HP:0001747	Accessory spleen	91147	TMEM67	ORPHA:564
HP:0001747	Accessory spleen	79770	TXNDC15	ORPHA:564
HP:0001747	Accessory spleen	27077	B9D1	ORPHA:564
HP:0001747	Accessory spleen	23322	RPGRIP1L	ORPHA:564
HP:0001747	Accessory spleen	54903	MKS1	ORPHA:564
HP:0001747	Accessory spleen	54903	MKS1	OMIM:249000
HP:0001747	Accessory spleen	65062	TMEM237	ORPHA:564
HP:0001747	Accessory spleen	7490	WT1	OMIM:608978
HP:0001747	Accessory spleen	537	ATP6AP1	OMIM:300972
HP:0001747	Accessory spleen	1387	CREBBP	OMIM:180849
HP:0001747	Accessory spleen	2033	EP300	OMIM:180849
HP:0001747	Accessory spleen	8565	YARS1	OMIM:619418
HP:0001747	Accessory spleen	8425	LTBP4	OMIM:613177
HP:0001747	Accessory spleen	4613	MYCN	OMIM:164280
HP:0001747	Accessory spleen	55012	PPP2R3C	OMIM:618419
HP:0001747	Accessory spleen	5557	PRIM1	OMIM:620005
HP:0001747	Accessory spleen	55770	EXOC2	OMIM:619306
HP:0001747	Accessory spleen	53834	FGFRL1	OMIM:194190
HP:0001747	Accessory spleen	1487	CTBP1	OMIM:194190
HP:0001747	Accessory spleen	3954	LETM1	OMIM:194190
HP:0001747	Accessory spleen	7468	NSD2	OMIM:194190
HP:0001747	Accessory spleen	10815	CPLX1	OMIM:194190
HP:0001747	Accessory spleen	1063	CENPF	OMIM:243605
HP:0001747	Accessory spleen	219844	HYLS1	OMIM:236680
HP:0011964	Intermittent painful muscle spasms	10342	TFG	ORPHA:90117
HP:0011964	Intermittent painful muscle spasms	1376	CPT2	ORPHA:228302
HP:0011964	Intermittent painful muscle spasms	1376	CPT2	ORPHA:228305
HP:0011964	Intermittent painful muscle spasms	779	CACNA1S	ORPHA:423
HP:0011964	Intermittent painful muscle spasms	6261	RYR1	ORPHA:423
HP:0011965	Abnormal circulating citrulline concentration	763	CA5A	OMIM:615751
HP:0011965	Abnormal circulating citrulline concentration	5009	OTC	OMIM:311250
HP:0011965	Abnormal circulating citrulline concentration	4535	MT-ND1	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4536	MT-ND2	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4537	MT-ND3	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4538	MT-ND4	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4567	MT-TL1	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4578	MT-TW	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4577	MT-TV	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4508	MT-ATP6	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4540	MT-ND5	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4541	MT-ND6	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	4566	MT-TK	ORPHA:255210
HP:0011965	Abnormal circulating citrulline concentration	29960	MRM2	OMIM:618567
HP:0011965	Abnormal circulating citrulline concentration	498	ATP5F1A	OMIM:620358
HP:0011965	Abnormal circulating citrulline concentration	1373	CPS1	OMIM:237300
HP:0011965	Abnormal circulating citrulline concentration	5832	ALDH18A1	OMIM:219150
HP:0011965	Abnormal circulating citrulline concentration	5105	PCK1	OMIM:261680
HP:0011965	Abnormal circulating citrulline concentration	10166	SLC25A15	ORPHA:415
HP:0011965	Abnormal circulating citrulline concentration	10165	SLC25A13	OMIM:605814
HP:0011965	Abnormal circulating citrulline concentration	10165	SLC25A13	ORPHA:247585
HP:0011965	Abnormal circulating citrulline concentration	10165	SLC25A13	ORPHA:247598
HP:0011965	Abnormal circulating citrulline concentration	10165	SLC25A13	OMIM:603471
HP:0011965	Abnormal circulating citrulline concentration	9056	SLC7A7	ORPHA:470
HP:0011965	Abnormal circulating citrulline concentration	445	ASS1	OMIM:215700
HP:0011965	Abnormal circulating citrulline concentration	10157	AASS	ORPHA:3124
HP:0011968	Feeding difficulties	7360	UGP2	OMIM:618744
HP:0011968	Feeding difficulties	546	ATRX	OMIM:301040
HP:0011968	Feeding difficulties	5830	PEX5	OMIM:214110
HP:0011968	Feeding difficulties	10102	TSFM	OMIM:610505
HP:0011968	Feeding difficulties	7681	MKRN3	OMIM:176270
HP:0011968	Feeding difficulties	3653	IPW	OMIM:176270
HP:0011968	Feeding difficulties	791114	PWRN1	OMIM:176270
HP:0011968	Feeding difficulties	100033413	SNORD116-1	OMIM:176270
HP:0011968	Feeding difficulties	8924	HERC2	OMIM:176270
HP:0011968	Feeding difficulties	145624	PWAR1	OMIM:176270
HP:0011968	Feeding difficulties	23742	NPAP1	OMIM:176270
HP:0011968	Feeding difficulties	338433	SNORD115-1	OMIM:176270
HP:0011968	Feeding difficulties	7314	UBB	ORPHA:99772
HP:0011968	Feeding difficulties	57822	GRHL3	ORPHA:99772
HP:0011968	Feeding difficulties	4487	MSX1	ORPHA:199306
HP:0011968	Feeding difficulties	5818	NECTIN1	ORPHA:199306
HP:0011968	Feeding difficulties	1739	DLG1	ORPHA:199306
HP:0011968	Feeding difficulties	652	BMP4	ORPHA:199306
HP:0011968	Feeding difficulties	999	CDH1	ORPHA:199306
HP:0011968	Feeding difficulties	5156	PDGFRA	ORPHA:199306
HP:0011968	Feeding difficulties	3664	IRF6	ORPHA:199306
HP:0011968	Feeding difficulties	9411	ARHGAP29	ORPHA:199306
HP:0011968	Feeding difficulties	1748	DLX4	ORPHA:199306
HP:0011968	Feeding difficulties	318	NUDT2	OMIM:619844
HP:0011968	Feeding difficulties	91647	ATPAF2	OMIM:604273
HP:0011968	Feeding difficulties	3265	HRAS	ORPHA:3071
HP:0011968	Feeding difficulties	3265	HRAS	OMIM:218040
HP:0011968	Feeding difficulties	55065	SLC52A1	OMIM:615026
HP:0011968	Feeding difficulties	5193	PEX12	OMIM:614859
HP:0011968	Feeding difficulties	538	ATP7A	ORPHA:198
HP:0011968	Feeding difficulties	7874	USP7	ORPHA:500055
HP:0011968	Feeding difficulties	9453	GGPS1	OMIM:619518
HP:0011968	Feeding difficulties	5828	PEX2	OMIM:614866
HP:0011968	Feeding difficulties	3032	HADHB	ORPHA:746
HP:0011968	Feeding difficulties	4714	NDUFB8	ORPHA:70474
HP:0011968	Feeding difficulties	6834	SURF1	ORPHA:70474
HP:0011968	Feeding difficulties	7385	UQCRC2	OMIM:615160
HP:0011968	Feeding difficulties	1806	DPYD	ORPHA:1675
HP:0011968	Feeding difficulties	8292	COLQ	ORPHA:98915
HP:0011968	Feeding difficulties	10084	PQBP1	OMIM:309500
HP:0011968	Feeding difficulties	7317	UBA1	ORPHA:1145
HP:0011968	Feeding difficulties	5824	PEX19	OMIM:614886
HP:0011968	Feeding difficulties	79651	RHBDF2	ORPHA:2198
HP:0011968	Feeding difficulties	2742	GLRA2	OMIM:301076
HP:0011968	Feeding difficulties	867	CBL	OMIM:613563
HP:0011968	Feeding difficulties	6888	TALDO1	OMIM:606003
HP:0011968	Feeding difficulties	9131	AIFM1	ORPHA:238329
HP:0011968	Feeding difficulties	4524	MTHFR	ORPHA:395
HP:0011968	Feeding difficulties	6535	SLC6A8	OMIM:300352
HP:0011968	Feeding difficulties	4621	MYH3	ORPHA:2053
HP:0011968	Feeding difficulties	4621	MYH3	OMIM:193700
HP:0011968	Feeding difficulties	199857	ALG14	OMIM:619036
HP:0011968	Feeding difficulties	51399	TRAPPC4	OMIM:618741
HP:0011968	Feeding difficulties	8518	ELP1	ORPHA:1764
HP:0011968	Feeding difficulties	8518	ELP1	OMIM:223900
HP:0011968	Feeding difficulties	1024	CDK8	OMIM:618748
HP:0011968	Feeding difficulties	145173	B3GLCT	ORPHA:709
HP:0011968	Feeding difficulties	145173	B3GLCT	OMIM:261540
HP:0011968	Feeding difficulties	22800	RRAS2	OMIM:618624
HP:0011968	Feeding difficulties	22800	RRAS2	ORPHA:648
HP:0011968	Feeding difficulties	2067	ERCC1	ORPHA:90322
HP:0011968	Feeding difficulties	2067	ERCC1	ORPHA:1466
HP:0011968	Feeding difficulties	283120	H19	ORPHA:231140
HP:0011968	Feeding difficulties	10743	RAI1	ORPHA:477817
HP:0011968	Feeding difficulties	10743	RAI1	ORPHA:819
HP:0011968	Feeding difficulties	7259	TSPYL1	OMIM:608800
HP:0011968	Feeding difficulties	116931	MED12L	OMIM:618872
HP:0011968	Feeding difficulties	6341	SCO1	OMIM:619048
HP:0011968	Feeding difficulties	6729	SRP54	OMIM:618752
HP:0011968	Feeding difficulties	1352	COX10	OMIM:619046
HP:0011968	Feeding difficulties	3141	HLCS	OMIM:253270
HP:0011968	Feeding difficulties	10686	CLDN16	OMIM:248250
HP:0011968	Feeding difficulties	2314	FLII	ORPHA:819
HP:0011968	Feeding difficulties	23096	IQSEC2	ORPHA:819
HP:0011968	Feeding difficulties	25782	RAB3GAP2	OMIM:212720
HP:0011968	Feeding difficulties	25782	RAB3GAP2	ORPHA:1387
HP:0011968	Feeding difficulties	9723	SEMA3E	ORPHA:138
HP:0011968	Feeding difficulties	9382	COG1	OMIM:611209
HP:0011968	Feeding difficulties	63908	NAPB	OMIM:620033
HP:0011968	Feeding difficulties	2263	FGFR2	ORPHA:87
HP:0011968	Feeding difficulties	2263	FGFR2	OMIM:123790
HP:0011968	Feeding difficulties	56992	KIF15	ORPHA:261323
HP:0011968	Feeding difficulties	170302	ARX	OMIM:300215
HP:0011968	Feeding difficulties	146862	UNC45B	OMIM:619178
HP:0011968	Feeding difficulties	274	BIN1	OMIM:255200
HP:0011968	Feeding difficulties	54880	BCOR	ORPHA:2712
HP:0011968	Feeding difficulties	10381	TUBB3	ORPHA:300570
HP:0011968	Feeding difficulties	686	BTD	OMIM:253260
HP:0011968	Feeding difficulties	170825	GSX2	OMIM:618646
HP:0011968	Feeding difficulties	157680	VPS13B	OMIM:216550
HP:0011968	Feeding difficulties	157680	VPS13B	ORPHA:193
HP:0011968	Feeding difficulties	1716	DGUOK	OMIM:251880
HP:0011968	Feeding difficulties	5095	PCCA	OMIM:606054
HP:0011968	Feeding difficulties	5096	PCCB	OMIM:606054
HP:0011968	Feeding difficulties	7386	UQCRFS1	OMIM:618775
HP:0011968	Feeding difficulties	88	ACTN2	OMIM:618654
HP:0011968	Feeding difficulties	833	CARS1	OMIM:618891
HP:0011968	Feeding difficulties	57178	ZMIZ1	OMIM:618659
HP:0011968	Feeding difficulties	1641	DCX	ORPHA:2148
HP:0011968	Feeding difficulties	51021	MRPS16	OMIM:610498
HP:0011968	Feeding difficulties	56922	MCCC1	OMIM:210200
HP:0011968	Feeding difficulties	113235	SLC46A1	OMIM:229050
HP:0011968	Feeding difficulties	79600	TCTN1	ORPHA:475
HP:0011968	Feeding difficulties	51684	SUFU	ORPHA:475
HP:0011968	Feeding difficulties	65250	CPLANE1	ORPHA:475
HP:0011968	Feeding difficulties	65250	CPLANE1	ORPHA:2754
HP:0011968	Feeding difficulties	91147	TMEM67	ORPHA:475
HP:0011968	Feeding difficulties	91147	TMEM67	ORPHA:1454
HP:0011968	Feeding difficulties	200894	ARL13B	ORPHA:475
HP:0011968	Feeding difficulties	9731	CEP104	ORPHA:475
HP:0011968	Feeding difficulties	219844	HYLS1	ORPHA:475
HP:0011968	Feeding difficulties	23247	KATNIP	ORPHA:475
HP:0011968	Feeding difficulties	219854	TMEM218	ORPHA:475
HP:0011968	Feeding difficulties	79867	TCTN2	ORPHA:475
HP:0011968	Feeding difficulties	80776	B9D2	ORPHA:475
HP:0011968	Feeding difficulties	10464	PIBF1	ORPHA:475
HP:0011968	Feeding difficulties	80210	ARMC9	ORPHA:475
HP:0011968	Feeding difficulties	23116	TOGARAM1	ORPHA:475
HP:0011968	Feeding difficulties	25776	CBY1	ORPHA:475
HP:0011968	Feeding difficulties	27077	B9D1	ORPHA:475
HP:0011968	Feeding difficulties	403	ARL3	ORPHA:475
HP:0011968	Feeding difficulties	55112	DYNC2I1	ORPHA:474
HP:0011968	Feeding difficulties	26160	IFT172	ORPHA:474
HP:0011968	Feeding difficulties	57560	IFT80	ORPHA:474
HP:0011968	Feeding difficulties	51626	DYNC2LI1	ORPHA:474
HP:0011968	Feeding difficulties	79659	DYNC2H1	ORPHA:474
HP:0011968	Feeding difficulties	9742	IFT140	ORPHA:474
HP:0011968	Feeding difficulties	57728	WDR19	ORPHA:474
HP:0011968	Feeding difficulties	89891	DYNC2I2	ORPHA:474
HP:0011968	Feeding difficulties	79809	TTC21B	ORPHA:474
HP:0011968	Feeding difficulties	4953	ODC1	OMIM:619075
HP:0011968	Feeding difficulties	1629	DBT	OMIM:248600
HP:0011968	Feeding difficulties	593	BCKDHA	OMIM:248600
HP:0011968	Feeding difficulties	594	BCKDHB	OMIM:248600
HP:0011968	Feeding difficulties	5626	PROP1	ORPHA:226307
HP:0011968	Feeding difficulties	89884	LHX4	ORPHA:226307
HP:0011968	Feeding difficulties	8022	LHX3	ORPHA:226307
HP:0011968	Feeding difficulties	8820	HESX1	ORPHA:226307
HP:0011968	Feeding difficulties	5190	PEX6	OMIM:614862
HP:0011968	Feeding difficulties	5190	PEX6	ORPHA:912
HP:0011968	Feeding difficulties	9091	PIGQ	OMIM:618548
HP:0011968	Feeding difficulties	6049	RNF6	ORPHA:99977
HP:0011968	Feeding difficulties	7048	TGFBR2	ORPHA:99977
HP:0011968	Feeding difficulties	9940	DLEC1	ORPHA:99977
HP:0011968	Feeding difficulties	5590	PRKCZ	ORPHA:1606
HP:0011968	Feeding difficulties	2563	GABRD	ORPHA:1606
HP:0011968	Feeding difficulties	23013	SPEN	ORPHA:1606
HP:0011968	Feeding difficulties	8510	MMP23B	ORPHA:1606
HP:0011968	Feeding difficulties	7798	LUZP1	ORPHA:1606
HP:0011968	Feeding difficulties	6497	SKI	ORPHA:1606
HP:0011968	Feeding difficulties	6497	SKI	OMIM:182212
HP:0011968	Feeding difficulties	10630	PDPN	ORPHA:1606
HP:0011968	Feeding difficulties	3339	HSPG2	ORPHA:1606
HP:0011968	Feeding difficulties	3339	HSPG2	ORPHA:800
HP:0011968	Feeding difficulties	10277	UBE4B	ORPHA:1606
HP:0011968	Feeding difficulties	8514	KCNAB2	ORPHA:1606
HP:0011968	Feeding difficulties	63976	PRDM16	ORPHA:1606
HP:0011968	Feeding difficulties	54897	CASZ1	ORPHA:1606
HP:0011968	Feeding difficulties	493856	CISD2	ORPHA:3463
HP:0011968	Feeding difficulties	7466	WFS1	ORPHA:3463
HP:0011968	Feeding difficulties	80025	PANK2	OMIM:234200
HP:0011968	Feeding difficulties	6609	SMPD1	OMIM:257200
HP:0011968	Feeding difficulties	166785	MMAA	OMIM:251100
HP:0011968	Feeding difficulties	10907	TXNL4A	OMIM:608572
HP:0011968	Feeding difficulties	10436	EMG1	ORPHA:1270
HP:0011968	Feeding difficulties	2548	GAA	ORPHA:308552
HP:0011968	Feeding difficulties	5192	PEX10	OMIM:614870
HP:0011968	Feeding difficulties	5192	PEX10	ORPHA:912
HP:0011968	Feeding difficulties	4849	CNOT3	OMIM:618672
HP:0011968	Feeding difficulties	1028	CDKN1C	ORPHA:397590
HP:0011968	Feeding difficulties	5324	PLAG1	ORPHA:397590
HP:0011968	Feeding difficulties	5324	PLAG1	OMIM:618907
HP:0011968	Feeding difficulties	8091	HMGA2	ORPHA:397590
HP:0011968	Feeding difficulties	8091	HMGA2	OMIM:618908
HP:0011968	Feeding difficulties	11231	SEC63	ORPHA:2924
HP:0011968	Feeding difficulties	5589	PRKCSH	ORPHA:2924
HP:0011968	Feeding difficulties	4041	LRP5	ORPHA:2924
HP:0011968	Feeding difficulties	200424	TET3	OMIM:618798
HP:0011968	Feeding difficulties	9409	PEX16	OMIM:614876
HP:0011968	Feeding difficulties	9409	PEX16	ORPHA:912
HP:0011968	Feeding difficulties	51085	MLXIPL	OMIM:194050
HP:0011968	Feeding difficulties	4692	NDN	ORPHA:98754
HP:0011968	Feeding difficulties	4692	NDN	ORPHA:177904
HP:0011968	Feeding difficulties	4692	NDN	ORPHA:177901
HP:0011968	Feeding difficulties	4692	NDN	ORPHA:177910
HP:0011968	Feeding difficulties	6389	SDHA	ORPHA:3208
HP:0011968	Feeding difficulties	6390	SDHB	ORPHA:3208
HP:0011968	Feeding difficulties	6390	SDHB	OMIM:619224
HP:0011968	Feeding difficulties	644096	SDHAF1	ORPHA:3208
HP:0011968	Feeding difficulties	22930	RAB3GAP1	ORPHA:1387
HP:0011968	Feeding difficulties	84295	PHF6	ORPHA:127
HP:0011968	Feeding difficulties	701	BUB1B	OMIM:257300
HP:0011968	Feeding difficulties	8726	EED	ORPHA:3447
HP:0011968	Feeding difficulties	23512	SUZ12	ORPHA:3447
HP:0011968	Feeding difficulties	2146	EZH2	ORPHA:3447
HP:0011968	Feeding difficulties	6567	SLC16A2	ORPHA:59
HP:0011968	Feeding difficulties	6567	SLC16A2	OMIM:300523
HP:0011968	Feeding difficulties	54463	RETREG1	OMIM:201300
HP:0011968	Feeding difficulties	65125	WNK1	OMIM:201300
HP:0011968	Feeding difficulties	6335	SCN9A	OMIM:201300
HP:0011968	Feeding difficulties	3329	HSPD1	OMIM:612233
HP:0011968	Feeding difficulties	58497	PRUNE1	ORPHA:544469
HP:0011968	Feeding difficulties	8799	PEX11B	ORPHA:912
HP:0011968	Feeding difficulties	846	CASR	OMIM:239200
HP:0011968	Feeding difficulties	6134	RPL10	OMIM:300998
HP:0011968	Feeding difficulties	1291	COL6A1	OMIM:254090
HP:0011968	Feeding difficulties	1292	COL6A2	OMIM:254090
HP:0011968	Feeding difficulties	1293	COL6A3	OMIM:254090
HP:0011968	Feeding difficulties	51728	POLR3K	OMIM:619310
HP:0011968	Feeding difficulties	55593	OTUD5	OMIM:301056
HP:0011968	Feeding difficulties	58484	NLRC4	OMIM:616050
HP:0011968	Feeding difficulties	55869	HDAC8	OMIM:300882
HP:0011968	Feeding difficulties	55869	HDAC8	ORPHA:199
HP:0011968	Feeding difficulties	11277	TREX1	OMIM:225750
HP:0011968	Feeding difficulties	1644	DDC	OMIM:608643
HP:0011968	Feeding difficulties	1760	DMPK	OMIM:160900
HP:0011968	Feeding difficulties	4952	OCRL	ORPHA:534
HP:0011968	Feeding difficulties	9126	SMC3	OMIM:610759
HP:0011968	Feeding difficulties	9126	SMC3	ORPHA:199
HP:0011968	Feeding difficulties	2218	FKTN	OMIM:236670
HP:0011968	Feeding difficulties	8869	ST3GAL5	OMIM:609056
HP:0011968	Feeding difficulties	5980	REV3L	ORPHA:570
HP:0011968	Feeding difficulties	23129	PLXND1	ORPHA:570
HP:0011968	Feeding difficulties	7084	TK2	ORPHA:254875
HP:0011968	Feeding difficulties	2068	ERCC2	ORPHA:1466
HP:0011968	Feeding difficulties	2073	ERCC5	ORPHA:1466
HP:0011968	Feeding difficulties	405753	DUOXA2	ORPHA:95716
HP:0011968	Feeding difficulties	6528	SLC5A5	ORPHA:95716
HP:0011968	Feeding difficulties	7038	TG	ORPHA:95716
HP:0011968	Feeding difficulties	7173	TPO	ORPHA:95716
HP:0011968	Feeding difficulties	389434	IYD	ORPHA:95716
HP:0011968	Feeding difficulties	201163	FLCN	OMIM:610883
HP:0011968	Feeding difficulties	5604	MAP2K1	ORPHA:1340
HP:0011968	Feeding difficulties	5604	MAP2K1	OMIM:163950
HP:0011968	Feeding difficulties	5605	MAP2K2	ORPHA:1340
HP:0011968	Feeding difficulties	1312	COMT	ORPHA:567
HP:0011968	Feeding difficulties	221037	JMJD1C	ORPHA:567
HP:0011968	Feeding difficulties	2812	GP1BB	ORPHA:567
HP:0011968	Feeding difficulties	6239	RREB1	ORPHA:567
HP:0011968	Feeding difficulties	6899	TBX1	ORPHA:567
HP:0011968	Feeding difficulties	7290	HIRA	ORPHA:567
HP:0011968	Feeding difficulties	9632	SEC24C	ORPHA:567
HP:0011968	Feeding difficulties	7353	UFD1	ORPHA:567
HP:0011968	Feeding difficulties	421	ARVCF	ORPHA:567
HP:0011968	Feeding difficulties	128989	TANGO2	ORPHA:480864
HP:0011968	Feeding difficulties	7703	PCGF2	OMIM:618371
HP:0011968	Feeding difficulties	6045	RNF2	OMIM:619460
HP:0011968	Feeding difficulties	22808	MRAS	OMIM:618499
HP:0011968	Feeding difficulties	22808	MRAS	ORPHA:648
HP:0011968	Feeding difficulties	84818	IL17RC	ORPHA:1334
HP:0011968	Feeding difficulties	64581	CLEC7A	ORPHA:1334
HP:0011968	Feeding difficulties	23765	IL17RA	ORPHA:1334
HP:0011968	Feeding difficulties	10758	TRAF3IP2	ORPHA:1334
HP:0011968	Feeding difficulties	112744	IL17F	ORPHA:1334
HP:0011968	Feeding difficulties	128637	TBC1D20	OMIM:615663
HP:0011968	Feeding difficulties	57545	CC2D2A	ORPHA:1454
HP:0011968	Feeding difficulties	25939	SAMHD1	OMIM:612952
HP:0011968	Feeding difficulties	4548	MTR	OMIM:250940
HP:0011968	Feeding difficulties	2313	FLI1	ORPHA:2308
HP:0011968	Feeding difficulties	326625	MMAB	OMIM:251110
HP:0011968	Feeding difficulties	84172	POLR1B	OMIM:618939
HP:0011968	Feeding difficulties	23476	BRD4	ORPHA:199
HP:0011968	Feeding difficulties	25836	NIPBL	ORPHA:199
HP:0011968	Feeding difficulties	5885	RAD21	ORPHA:199
HP:0011968	Feeding difficulties	6197	RPS6KA3	ORPHA:192
HP:0011968	Feeding difficulties	51241	COX16	OMIM:619355
HP:0011968	Feeding difficulties	410	ARSA	ORPHA:309256
HP:0011968	Feeding difficulties	4337	MOCS1	OMIM:252150
HP:0011968	Feeding difficulties	435	ASL	OMIM:207900
HP:0011968	Feeding difficulties	7040	TGFB1	ORPHA:1328
HP:0011968	Feeding difficulties	2887	GRB10	ORPHA:96182
HP:0011968	Feeding difficulties	6452	SH3BP2	ORPHA:184
HP:0011968	Feeding difficulties	23556	PIGN	ORPHA:280633
HP:0011968	Feeding difficulties	6340	SCNN1G	ORPHA:171876
HP:0011968	Feeding difficulties	6337	SCNN1A	ORPHA:171876
HP:0011968	Feeding difficulties	6337	SCNN1A	OMIM:264350
HP:0011968	Feeding difficulties	6338	SCNN1B	ORPHA:171876
HP:0011968	Feeding difficulties	90522	YIF1B	OMIM:619125
HP:0011968	Feeding difficulties	2316	FLNA	OMIM:300048
HP:0011968	Feeding difficulties	90416	CCDC32	OMIM:619123
HP:0011968	Feeding difficulties	1277	COL1A1	ORPHA:1310
HP:0011968	Feeding difficulties	617	BCS1L	OMIM:124000
HP:0011968	Feeding difficulties	55252	ASXL2	OMIM:617190
HP:0011968	Feeding difficulties	10479	SLC9A6	ORPHA:85278
HP:0011968	Feeding difficulties	2193	FARSA	OMIM:619013
HP:0011968	Feeding difficulties	1984	EIF5A	OMIM:619376
HP:0011968	Feeding difficulties	51780	KDM3B	OMIM:618846
HP:0011968	Feeding difficulties	8481	OFD1	OMIM:300804
HP:0011968	Feeding difficulties	8481	OFD1	ORPHA:2754
HP:0011968	Feeding difficulties	2806	GOT2	OMIM:618721
HP:0011968	Feeding difficulties	3295	HSD17B4	OMIM:261515
HP:0011968	Feeding difficulties	8216	LZTR1	ORPHA:648
HP:0011968	Feeding difficulties	6237	RRAS	ORPHA:648
HP:0011968	Feeding difficulties	5894	RAF1	ORPHA:648
HP:0011968	Feeding difficulties	200734	SPRED2	ORPHA:648
HP:0011968	Feeding difficulties	6654	SOS1	ORPHA:648
HP:0011968	Feeding difficulties	6655	SOS2	ORPHA:648
HP:0011968	Feeding difficulties	5781	PTPN11	ORPHA:648
HP:0011968	Feeding difficulties	5781	PTPN11	OMIM:163950
HP:0011968	Feeding difficulties	5922	RASA2	ORPHA:648
HP:0011968	Feeding difficulties	4848	CNOT2	OMIM:618608
HP:0011968	Feeding difficulties	1807	DPYS	OMIM:222748
HP:0011968	Feeding difficulties	10210	TOPORS	ORPHA:2754
HP:0011968	Feeding difficulties	5147	PDE6D	ORPHA:2754
HP:0011968	Feeding difficulties	51259	TMEM216	ORPHA:2754
HP:0011968	Feeding difficulties	317662	FAM149B1	ORPHA:2754
HP:0011968	Feeding difficulties	374654	KIF7	ORPHA:2754
HP:0011968	Feeding difficulties	9897	WASHC5	ORPHA:7
HP:0011968	Feeding difficulties	28952	CCDC22	ORPHA:7
HP:0011968	Feeding difficulties	3908	LAMA2	OMIM:607855
HP:0011968	Feeding difficulties	29928	TIMM22	OMIM:618851
HP:0011968	Feeding difficulties	8803	SUCLA2	OMIM:612073
HP:0011968	Feeding difficulties	2036	EPB41L1	OMIM:614257
HP:0011968	Feeding difficulties	4281	MID1	ORPHA:2745
HP:0011968	Feeding difficulties	84148	KAT8	OMIM:618974
HP:0011968	Feeding difficulties	57194	ATP10A	ORPHA:411515
HP:0011968	Feeding difficulties	5052	PRDX1	OMIM:277400
HP:0011968	Feeding difficulties	84617	TUBB6	OMIM:617732
HP:0011968	Feeding difficulties	7156	TOP3A	OMIM:618098
HP:0011968	Feeding difficulties	8626	TP63	OMIM:106260
HP:0011968	Feeding difficulties	80267	EDEM3	OMIM:619493
HP:0011968	Feeding difficulties	84340	GFM2	ORPHA:565624
HP:0011968	Feeding difficulties	1351	COX8A	OMIM:619059
HP:0011968	Feeding difficulties	10664	CTCF	ORPHA:363611
HP:0011968	Feeding difficulties	284058	KANSL1	ORPHA:363958
HP:0011968	Feeding difficulties	284058	KANSL1	ORPHA:363965
HP:0011968	Feeding difficulties	1859	DYRK1A	ORPHA:268261
HP:0011968	Feeding difficulties	10846	PDE10A	ORPHA:494526
HP:0011968	Feeding difficulties	8218	CLTCL1	ORPHA:453510
HP:0011968	Feeding difficulties	51604	PIGT	ORPHA:369837
HP:0011968	Feeding difficulties	1387	CREBBP	ORPHA:353277
HP:0011968	Feeding difficulties	23314	SATB2	ORPHA:251028
HP:0011968	Feeding difficulties	2917	GRM7	OMIM:618922
HP:0011968	Feeding difficulties	259232	NALCN	ORPHA:371364
HP:0011968	Feeding difficulties	285175	UNC80	ORPHA:371364
HP:0011968	Feeding difficulties	2581	GALC	ORPHA:206436
HP:0011968	Feeding difficulties	5660	PSAP	ORPHA:206436
HP:0011968	Feeding difficulties	3190	HNRNPK	ORPHA:352665
HP:0011968	Feeding difficulties	3190	HNRNPK	ORPHA:453504
HP:0011968	Feeding difficulties	22827	PUF60	ORPHA:508488
HP:0011968	Feeding difficulties	57190	SELENON	ORPHA:2020
HP:0011968	Feeding difficulties	58	ACTA1	ORPHA:2020
HP:0011968	Feeding difficulties	4633	MYL2	ORPHA:2020
HP:0011968	Feeding difficulties	3679	ITGA7	ORPHA:2020
HP:0011968	Feeding difficulties	7169	TPM2	ORPHA:2020
HP:0011968	Feeding difficulties	9200	HACD1	ORPHA:2020
HP:0011968	Feeding difficulties	7170	TPM3	ORPHA:2020
HP:0011968	Feeding difficulties	51776	MAP3K20	ORPHA:2020
HP:0011968	Feeding difficulties	4556	MT-TE	ORPHA:254864
HP:0011968	Feeding difficulties	55687	TRMU	ORPHA:254864
HP:0011968	Feeding difficulties	84706	GPT2	ORPHA:477673
HP:0011968	Feeding difficulties	10342	TFG	ORPHA:90117
HP:0011968	Feeding difficulties	2033	EP300	ORPHA:353284
HP:0011968	Feeding difficulties	6638	SNRPN	ORPHA:177907
HP:0011968	Feeding difficulties	3417	IDH1	ORPHA:99646
HP:0011968	Feeding difficulties	7528	YY1	ORPHA:506358
HP:0011968	Feeding difficulties	10059	DNM1L	ORPHA:330050
HP:0011968	Feeding difficulties	23394	ADNP	ORPHA:404448
HP:0011968	Feeding difficulties	91574	MTRFR	ORPHA:254930
HP:0011968	Feeding difficulties	10466	COG5	ORPHA:263487
HP:0011968	Feeding difficulties	26005	C2CD3	ORPHA:434179
HP:0011968	Feeding difficulties	1861	TOR1A	OMIM:618947
HP:0011968	Feeding difficulties	1280	COL2A1	ORPHA:93316
HP:0011968	Feeding difficulties	673	BRAF	OMIM:115150
HP:0011968	Feeding difficulties	4897	NRCAM	OMIM:619833
HP:0011968	Feeding difficulties	6323	SCN1A	OMIM:619317
HP:0011968	Feeding difficulties	6328	SCN3A	OMIM:617938
HP:0011968	Feeding difficulties	23345	SYNE1	ORPHA:319332
HP:0011968	Feeding difficulties	8405	SPOP	OMIM:618828
HP:0011968	Feeding difficulties	10128	LRPPRC	ORPHA:70472
HP:0011968	Feeding difficulties	7343	UBTF	ORPHA:500180
HP:0011968	Feeding difficulties	128869	PIGU	OMIM:618590
HP:0011968	Feeding difficulties	27125	AFF4	ORPHA:444077
HP:0011968	Feeding difficulties	4247	MGAT2	ORPHA:79329
HP:0011968	Feeding difficulties	283446	MYO1H	OMIM:619482
HP:0011968	Feeding difficulties	5631	PRPS1	ORPHA:423479
HP:0011968	Feeding difficulties	2521	FUS	ORPHA:300605
HP:0011968	Feeding difficulties	80208	SPG11	ORPHA:300605
HP:0011968	Feeding difficulties	10280	SIGMAR1	ORPHA:300605
HP:0011968	Feeding difficulties	10558	SPTLC1	ORPHA:300605
HP:0011968	Feeding difficulties	57679	ALS2	ORPHA:300605
HP:0011968	Feeding difficulties	80232	WDR26	ORPHA:513456
HP:0011968	Feeding difficulties	51112	TRAPPC12	ORPHA:500144
HP:0011968	Feeding difficulties	2222	FDFT1	OMIM:618156
HP:0011968	Feeding difficulties	253959	RALGAPA1	OMIM:618797
HP:0011968	Feeding difficulties	7204	TRIO	ORPHA:476126
HP:0011968	Feeding difficulties	83737	ITCH	OMIM:613385
HP:0011968	Feeding difficulties	83737	ITCH	ORPHA:228426
HP:0011968	Feeding difficulties	1294	COL7A1	ORPHA:89842
HP:0011968	Feeding difficulties	7358	UGDH	OMIM:618792
HP:0011968	Feeding difficulties	28514	DLL1	ORPHA:280195
HP:0011968	Feeding difficulties	28514	DLL1	ORPHA:220386
HP:0011968	Feeding difficulties	28514	DLL1	ORPHA:93926
HP:0011968	Feeding difficulties	28514	DLL1	ORPHA:93924
HP:0011968	Feeding difficulties	28514	DLL1	ORPHA:93925
HP:0011968	Feeding difficulties	2253	FGF8	ORPHA:280195
HP:0011968	Feeding difficulties	2253	FGF8	ORPHA:220386
HP:0011968	Feeding difficulties	2253	FGF8	ORPHA:93926
HP:0011968	Feeding difficulties	2253	FGF8	ORPHA:93924
HP:0011968	Feeding difficulties	2253	FGF8	ORPHA:93925
HP:0011968	Feeding difficulties	6496	SIX3	ORPHA:280195
HP:0011968	Feeding difficulties	6496	SIX3	ORPHA:220386
HP:0011968	Feeding difficulties	6496	SIX3	ORPHA:93926
HP:0011968	Feeding difficulties	6496	SIX3	ORPHA:93924
HP:0011968	Feeding difficulties	6496	SIX3	ORPHA:93925
HP:0011968	Feeding difficulties	7050	TGIF1	ORPHA:280195
HP:0011968	Feeding difficulties	7050	TGIF1	ORPHA:220386
HP:0011968	Feeding difficulties	7050	TGIF1	ORPHA:93926
HP:0011968	Feeding difficulties	7050	TGIF1	ORPHA:93924
HP:0011968	Feeding difficulties	7050	TGIF1	ORPHA:93925
HP:0011968	Feeding difficulties	4838	NODAL	ORPHA:280195
HP:0011968	Feeding difficulties	4838	NODAL	ORPHA:220386
HP:0011968	Feeding difficulties	4838	NODAL	ORPHA:93926
HP:0011968	Feeding difficulties	4838	NODAL	ORPHA:93924
HP:0011968	Feeding difficulties	4838	NODAL	ORPHA:93925
HP:0011968	Feeding difficulties	6469	SHH	ORPHA:280195
HP:0011968	Feeding difficulties	6469	SHH	ORPHA:220386
HP:0011968	Feeding difficulties	6469	SHH	ORPHA:93926
HP:0011968	Feeding difficulties	6469	SHH	ORPHA:93924
HP:0011968	Feeding difficulties	6469	SHH	ORPHA:93925
HP:0011968	Feeding difficulties	7546	ZIC2	ORPHA:280195
HP:0011968	Feeding difficulties	7546	ZIC2	ORPHA:220386
HP:0011968	Feeding difficulties	7546	ZIC2	ORPHA:93926
HP:0011968	Feeding difficulties	7546	ZIC2	ORPHA:93924
HP:0011968	Feeding difficulties	7546	ZIC2	ORPHA:93925
HP:0011968	Feeding difficulties	6491	STIL	ORPHA:280195
HP:0011968	Feeding difficulties	6491	STIL	ORPHA:220386
HP:0011968	Feeding difficulties	6491	STIL	ORPHA:93926
HP:0011968	Feeding difficulties	6491	STIL	ORPHA:93924
HP:0011968	Feeding difficulties	6491	STIL	ORPHA:93925
HP:0011968	Feeding difficulties	2619	GAS1	ORPHA:280195
HP:0011968	Feeding difficulties	2619	GAS1	ORPHA:220386
HP:0011968	Feeding difficulties	2619	GAS1	ORPHA:93926
HP:0011968	Feeding difficulties	2619	GAS1	ORPHA:93924
HP:0011968	Feeding difficulties	2619	GAS1	ORPHA:93925
HP:0011968	Feeding difficulties	84976	DISP1	ORPHA:280195
HP:0011968	Feeding difficulties	84976	DISP1	ORPHA:220386
HP:0011968	Feeding difficulties	84976	DISP1	ORPHA:93926
HP:0011968	Feeding difficulties	84976	DISP1	ORPHA:93924
HP:0011968	Feeding difficulties	84976	DISP1	ORPHA:93925
HP:0011968	Feeding difficulties	2736	GLI2	ORPHA:280195
HP:0011968	Feeding difficulties	2736	GLI2	ORPHA:220386
HP:0011968	Feeding difficulties	2736	GLI2	ORPHA:93926
HP:0011968	Feeding difficulties	2736	GLI2	ORPHA:93924
HP:0011968	Feeding difficulties	2736	GLI2	ORPHA:93925
HP:0011968	Feeding difficulties	8928	FOXH1	ORPHA:280195
HP:0011968	Feeding difficulties	8928	FOXH1	ORPHA:220386
HP:0011968	Feeding difficulties	8928	FOXH1	ORPHA:93926
HP:0011968	Feeding difficulties	8928	FOXH1	ORPHA:93924
HP:0011968	Feeding difficulties	8928	FOXH1	ORPHA:93925
HP:0011968	Feeding difficulties	5727	PTCH1	ORPHA:280195
HP:0011968	Feeding difficulties	5727	PTCH1	ORPHA:220386
HP:0011968	Feeding difficulties	5727	PTCH1	ORPHA:93926
HP:0011968	Feeding difficulties	5727	PTCH1	ORPHA:93924
HP:0011968	Feeding difficulties	5727	PTCH1	ORPHA:93925
HP:0011968	Feeding difficulties	50937	CDON	ORPHA:280195
HP:0011968	Feeding difficulties	50937	CDON	ORPHA:220386
HP:0011968	Feeding difficulties	50937	CDON	ORPHA:93926
HP:0011968	Feeding difficulties	50937	CDON	ORPHA:93924
HP:0011968	Feeding difficulties	50937	CDON	ORPHA:93925
HP:0011968	Feeding difficulties	283989	TSEN54	ORPHA:2524
HP:0011968	Feeding difficulties	116461	TSEN15	ORPHA:2524
HP:0011968	Feeding difficulties	79042	TSEN34	ORPHA:2524
HP:0011968	Feeding difficulties	80746	TSEN2	ORPHA:2524
HP:0011968	Feeding difficulties	51091	SEPSECS	ORPHA:2524
HP:0011968	Feeding difficulties	80055	PGAP1	OMIM:615802
HP:0011968	Feeding difficulties	55152	DALRD3	OMIM:618910
HP:0011968	Feeding difficulties	79633	FAT4	ORPHA:314679
HP:0011968	Feeding difficulties	8642	DCHS1	ORPHA:314679
HP:0011968	Feeding difficulties	388015	RTL1	ORPHA:96334
HP:0011968	Feeding difficulties	8788	DLK1	ORPHA:96334
HP:0011968	Feeding difficulties	55384	MEG3	ORPHA:96334
HP:0011968	Feeding difficulties	9338	TCEAL1	OMIM:301094
HP:0011968	Feeding difficulties	443	ASPA	ORPHA:314911
HP:0011968	Feeding difficulties	87178	PNPT1	ORPHA:319514
HP:0011968	Feeding difficulties	79158	GNPTAB	ORPHA:576
HP:0011968	Feeding difficulties	1185	CLCN6	OMIM:619173
HP:0011968	Feeding difficulties	84992	PIGY	ORPHA:247262
HP:0011968	Feeding difficulties	84720	PIGO	ORPHA:247262
HP:0011968	Feeding difficulties	93210	PGAP3	ORPHA:247262
HP:0011968	Feeding difficulties	284098	PIGW	ORPHA:247262
HP:0011968	Feeding difficulties	27315	PGAP2	ORPHA:247262
HP:0011968	Feeding difficulties	55650	PIGV	ORPHA:247262
HP:0011968	Feeding difficulties	9487	PIGL	ORPHA:247262
HP:0011968	Feeding difficulties	57107	PDSS2	ORPHA:255249
HP:0011968	Feeding difficulties	27235	COQ2	ORPHA:255249
HP:0011968	Feeding difficulties	6651	SON	ORPHA:500150
HP:0011968	Feeding difficulties	2260	FGFR1	ORPHA:220386
HP:0011968	Feeding difficulties	2260	FGFR1	ORPHA:93924
HP:0011968	Feeding difficulties	10735	STAG2	ORPHA:220386
HP:0011968	Feeding difficulties	10735	STAG2	ORPHA:93925
HP:0011968	Feeding difficulties	8243	SMC1A	ORPHA:220386
HP:0011968	Feeding difficulties	93627	TBCK	OMIM:616900
HP:0011968	Feeding difficulties	8560	DEGS1	OMIM:618404
HP:0011968	Feeding difficulties	819	CAMLG	OMIM:620201
HP:0011968	Feeding difficulties	2055	CLN8	ORPHA:1947
HP:0011968	Feeding difficulties	9361	LONP1	ORPHA:79243
HP:0011968	Feeding difficulties	5160	PDHA1	ORPHA:79243
HP:0011968	Feeding difficulties	57731	SPTBN4	OMIM:617519
HP:0011968	Feeding difficulties	8813	DPM1	ORPHA:79322
HP:0011968	Feeding difficulties	6509	SLC1A4	ORPHA:447997
HP:0011968	Feeding difficulties	79087	ALG12	ORPHA:79324
HP:0011968	Feeding difficulties	641	BLM	ORPHA:125
HP:0011968	Feeding difficulties	29968	PSAT1	ORPHA:284417
HP:0011968	Feeding difficulties	8884	SLC5A6	OMIM:618973
HP:0011968	Feeding difficulties	25930	PTPN23	OMIM:618890
HP:0011968	Feeding difficulties	131377	KLHL40	OMIM:615348
HP:0011968	Feeding difficulties	23007	PLCH1	ORPHA:93925
HP:0011968	Feeding difficulties	5518	PPP2R1A	ORPHA:457284
HP:0011968	Feeding difficulties	11342	RNF13	ORPHA:544503
HP:0011968	Feeding difficulties	3852	KRT5	ORPHA:79396
HP:0011968	Feeding difficulties	3861	KRT14	ORPHA:79396
HP:0011968	Feeding difficulties	9325	TRIP4	ORPHA:486815
HP:0011968	Feeding difficulties	26040	SETBP1	ORPHA:798
HP:0011968	Feeding difficulties	2673	GFPT1	OMIM:608931
HP:0011968	Feeding difficulties	1145	CHRNE	OMIM:608931
HP:0011968	Feeding difficulties	1145	CHRNE	OMIM:616324
HP:0011968	Feeding difficulties	340533	NEXMIF	OMIM:300912
HP:0011968	Feeding difficulties	1144	CHRND	OMIM:616322
HP:0011968	Feeding difficulties	1144	CHRND	OMIM:616323
HP:0011968	Feeding difficulties	51569	UFM1	OMIM:617899
HP:0011968	Feeding difficulties	5913	RAPSN	OMIM:616326
HP:0011968	Feeding difficulties	6659	SOX4	OMIM:618506
HP:0011968	Feeding difficulties	6659	SOX4	ORPHA:1465
HP:0011968	Feeding difficulties	55209	SETD5	ORPHA:404440
HP:0011968	Feeding difficulties	55209	SETD5	OMIM:615761
HP:0011968	Feeding difficulties	65993	MRPS34	OMIM:617664
HP:0011968	Feeding difficulties	80816	ASXL3	OMIM:615485
HP:0011968	Feeding difficulties	283489	CHAMP1	OMIM:616579
HP:0011968	Feeding difficulties	387787	LIPT2	OMIM:617668
HP:0011968	Feeding difficulties	23322	RPGRIP1L	ORPHA:220497
HP:0011968	Feeding difficulties	4867	NPHP1	ORPHA:220497
HP:0011968	Feeding difficulties	65062	TMEM237	ORPHA:220497
HP:0011968	Feeding difficulties	27245	AHDC1	ORPHA:412069
HP:0011968	Feeding difficulties	1841	DTYMK	OMIM:619847
HP:0011968	Feeding difficulties	166378	AFG2A	OMIM:616577
HP:0011968	Feeding difficulties	55690	PACS1	OMIM:615009
HP:0011968	Feeding difficulties	54806	AHI1	ORPHA:220493
HP:0011968	Feeding difficulties	56623	INPP5E	ORPHA:220493
HP:0011968	Feeding difficulties	153241	CEP120	ORPHA:220493
HP:0011968	Feeding difficulties	54903	MKS1	ORPHA:220493
HP:0011968	Feeding difficulties	95681	CEP41	ORPHA:220493
HP:0011968	Feeding difficulties	55904	KMT2E	OMIM:618512
HP:0011968	Feeding difficulties	84197	POMK	OMIM:615249
HP:0011968	Feeding difficulties	103	ADAR	OMIM:615010
HP:0011968	Feeding difficulties	150094	SIK1	OMIM:616341
HP:0011968	Feeding difficulties	150094	SIK1	ORPHA:1935
HP:0011968	Feeding difficulties	3064	HTT	OMIM:617435
HP:0011968	Feeding difficulties	7994	KAT6A	ORPHA:457193
HP:0011968	Feeding difficulties	7994	KAT6A	OMIM:616268
HP:0011968	Feeding difficulties	2770	GNAI1	OMIM:619854
HP:0011968	Feeding difficulties	3767	KCNJ11	ORPHA:79644
HP:0011968	Feeding difficulties	3767	KCNJ11	ORPHA:276580
HP:0011968	Feeding difficulties	9401	RECQL4	OMIM:218600
HP:0011968	Feeding difficulties	9401	RECQL4	OMIM:266280
HP:0011968	Feeding difficulties	857	CAV1	OMIM:606721
HP:0011968	Feeding difficulties	4330	MN1	OMIM:618774
HP:0011968	Feeding difficulties	8789	FBP2	OMIM:619864
HP:0011968	Feeding difficulties	23327	NEDD4L	OMIM:617201
HP:0011968	Feeding difficulties	790955	UQCC3	OMIM:616111
HP:0011968	Feeding difficulties	89910	UBE3B	ORPHA:2707
HP:0011968	Feeding difficulties	8493	PPM1D	OMIM:617450
HP:0011968	Feeding difficulties	23126	POGZ	OMIM:616364
HP:0011968	Feeding difficulties	23126	POGZ	ORPHA:468678
HP:0011968	Feeding difficulties	51633	OTUD6B	OMIM:617452
HP:0011968	Feeding difficulties	51633	OTUD6B	ORPHA:505237
HP:0011968	Feeding difficulties	5593	PRKG2	OMIM:619638
HP:0011968	Feeding difficulties	51692	CPSF3	OMIM:619876
HP:0011968	Feeding difficulties	3098	HK1	OMIM:618547
HP:0011968	Feeding difficulties	79718	TBL1XR1	OMIM:602342
HP:0011968	Feeding difficulties	55210	ATAD3A	ORPHA:496790
HP:0011968	Feeding difficulties	55210	ATAD3A	OMIM:617183
HP:0011968	Feeding difficulties	8818	DPM2	OMIM:615042
HP:0011968	Feeding difficulties	56947	MFF	ORPHA:485421
HP:0011968	Feeding difficulties	2904	GRIN2B	OMIM:616139
HP:0011968	Feeding difficulties	4285	MIPEP	OMIM:617228
HP:0011968	Feeding difficulties	4208	MEF2C	ORPHA:228384
HP:0011968	Feeding difficulties	4208	MEF2C	OMIM:613443
HP:0011968	Feeding difficulties	4000	LMNA	ORPHA:157973
HP:0011968	Feeding difficulties	4000	LMNA	OMIM:613205
HP:0011968	Feeding difficulties	4000	LMNA	OMIM:619793
HP:0011968	Feeding difficulties	6843	VAMP1	OMIM:618323
HP:0011968	Feeding difficulties	6843	VAMP1	ORPHA:98914
HP:0011968	Feeding difficulties	5917	RARS1	OMIM:616140
HP:0011968	Feeding difficulties	197258	FCSK	OMIM:618324
HP:0011968	Feeding difficulties	3798	KIF5A	OMIM:617235
HP:0011968	Feeding difficulties	125988	MICOS13	OMIM:618329
HP:0011968	Feeding difficulties	6572	SLC18A3	OMIM:617239
HP:0011968	Feeding difficulties	6572	SLC18A3	ORPHA:98914
HP:0011968	Feeding difficulties	23499	MACF1	OMIM:618325
HP:0011968	Feeding difficulties	404672	GTF2H5	OMIM:616395
HP:0011968	Feeding difficulties	25970	SH2B1	ORPHA:261197
HP:0011968	Feeding difficulties	10533	ATG7	OMIM:619422
HP:0011968	Feeding difficulties	56160	NSMCE3	OMIM:617241
HP:0011968	Feeding difficulties	5881	RAC3	OMIM:618577
HP:0011968	Feeding difficulties	27429	HTRA2	OMIM:617248
HP:0011968	Feeding difficulties	5813	PURA	OMIM:616158
HP:0011968	Feeding difficulties	5426	POLE	OMIM:618336
HP:0011968	Feeding difficulties	389827	MYMK	OMIM:254940
HP:0011968	Feeding difficulties	2639	GCDH	ORPHA:25
HP:0011968	Feeding difficulties	1134	CHRNA1	OMIM:601462
HP:0011968	Feeding difficulties	9488	PIGB	OMIM:618580
HP:0011968	Feeding difficulties	1499	CTNNB1	OMIM:615075
HP:0011968	Feeding difficulties	84894	LINGO1	OMIM:618103
HP:0011968	Feeding difficulties	56203	LMOD3	OMIM:616165
HP:0011968	Feeding difficulties	56203	LMOD3	ORPHA:171436
HP:0011968	Feeding difficulties	10765	KDM5B	OMIM:618109
HP:0011968	Feeding difficulties	8573	CASK	OMIM:300749
HP:0011968	Feeding difficulties	92335	STRADA	ORPHA:500533
HP:0011968	Feeding difficulties	92335	STRADA	OMIM:611087
HP:0011968	Feeding difficulties	6418	SET	OMIM:618106
HP:0011968	Feeding difficulties	9526	MPDU1	OMIM:609180
HP:0011968	Feeding difficulties	9526	MPDU1	ORPHA:79323
HP:0011968	Feeding difficulties	79813	EHMT1	ORPHA:96147
HP:0011968	Feeding difficulties	4703	NEB	OMIM:256030
HP:0011968	Feeding difficulties	4703	NEB	ORPHA:171436
HP:0011968	Feeding difficulties	4703	NEB	ORPHA:171439
HP:0011968	Feeding difficulties	2200	FBN1	ORPHA:284979
HP:0011968	Feeding difficulties	3208	HPCA	ORPHA:99657
HP:0011968	Feeding difficulties	7707	ZNF148	OMIM:617260
HP:0011968	Feeding difficulties	29887	SNX10	OMIM:615085
HP:0011968	Feeding difficulties	5515	PPP2CA	OMIM:618354
HP:0011968	Feeding difficulties	55610	VPS50	OMIM:619685
HP:0011968	Feeding difficulties	23114	NFASC	OMIM:618356
HP:0011968	Feeding difficulties	5649	RELN	ORPHA:89844
HP:0011968	Feeding difficulties	10300	KATNB1	ORPHA:89844
HP:0011968	Feeding difficulties	54820	NDE1	ORPHA:89844
HP:0011968	Feeding difficulties	54820	NDE1	OMIM:614019
HP:0011968	Feeding difficulties	29925	GMPPB	ORPHA:370968
HP:0011968	Feeding difficulties	29925	GMPPB	OMIM:615350
HP:0011968	Feeding difficulties	29925	GMPPB	OMIM:615351
HP:0011968	Feeding difficulties	79147	FKRP	ORPHA:370968
HP:0011968	Feeding difficulties	79147	FKRP	OMIM:606612
HP:0011968	Feeding difficulties	79147	FKRP	OMIM:613153
HP:0011968	Feeding difficulties	29954	POMT2	ORPHA:370968
HP:0011968	Feeding difficulties	9215	LARGE1	ORPHA:370968
HP:0011968	Feeding difficulties	10585	POMT1	ORPHA:370968
HP:0011968	Feeding difficulties	7337	UBE3A	ORPHA:98794
HP:0011968	Feeding difficulties	7337	UBE3A	ORPHA:98795
HP:0011968	Feeding difficulties	7337	UBE3A	ORPHA:411511
HP:0011968	Feeding difficulties	4948	OCA2	ORPHA:98794
HP:0011968	Feeding difficulties	427	ASAH1	ORPHA:333
HP:0011968	Feeding difficulties	473	RERE	ORPHA:494344
HP:0011968	Feeding difficulties	473	RERE	OMIM:616975
HP:0011968	Feeding difficulties	55777	MBD5	OMIM:156200
HP:0011968	Feeding difficulties	4784	NFIX	OMIM:602535
HP:0011968	Feeding difficulties	51132	RLIM	OMIM:300978
HP:0011968	Feeding difficulties	10588	MTHFS	OMIM:618367
HP:0011968	Feeding difficulties	6601	SMARCC2	OMIM:618362
HP:0011968	Feeding difficulties	6601	SMARCC2	ORPHA:1465
HP:0011968	Feeding difficulties	4052	LTBP1	OMIM:619451
HP:0011968	Feeding difficulties	7468	NSD2	OMIM:619695
HP:0011968	Feeding difficulties	54551	MAGEL2	ORPHA:398069
HP:0011968	Feeding difficulties	54551	MAGEL2	OMIM:615547
HP:0011968	Feeding difficulties	3376	IARS1	ORPHA:541423
HP:0011968	Feeding difficulties	439	GET3	OMIM:620203
HP:0011968	Feeding difficulties	51102	MECR	OMIM:617282
HP:0011968	Feeding difficulties	51102	MECR	ORPHA:508093
HP:0011968	Feeding difficulties	8802	SUCLG1	ORPHA:17
HP:0011968	Feeding difficulties	8802	SUCLG1	OMIM:245400
HP:0011968	Feeding difficulties	3188	HNRNPH2	OMIM:300986
HP:0011968	Feeding difficulties	84705	GTPBP3	OMIM:616198
HP:0011968	Feeding difficulties	50801	KCNK4	OMIM:618381
HP:0011968	Feeding difficulties	8943	AP3D1	OMIM:617050
HP:0011968	Feeding difficulties	9757	KMT2B	ORPHA:589618
HP:0011968	Feeding difficulties	9757	KMT2B	OMIM:619934
HP:0011968	Feeding difficulties	55975	KLHL7	OMIM:617055
HP:0011968	Feeding difficulties	2290	FOXG1	ORPHA:261144
HP:0011968	Feeding difficulties	2290	FOXG1	OMIM:613454
HP:0011968	Feeding difficulties	57187	THOC2	OMIM:300957
HP:0011968	Feeding difficulties	134218	DNAJC21	OMIM:617052
HP:0011968	Feeding difficulties	9851	KIAA0753	OMIM:619479
HP:0011968	Feeding difficulties	10526	IPO8	OMIM:619472
HP:0011968	Feeding difficulties	94005	PIGS	OMIM:618143
HP:0011968	Feeding difficulties	6711	SPTBN1	OMIM:619475
HP:0011968	Feeding difficulties	8452	CUL3	OMIM:619239
HP:0011968	Feeding difficulties	10283	CWC27	ORPHA:166035
HP:0011968	Feeding difficulties	10283	CWC27	OMIM:250410
HP:0011968	Feeding difficulties	11198	SUPT16H	OMIM:619480
HP:0011968	Feeding difficulties	1457	CSNK2A1	OMIM:617062
HP:0011968	Feeding difficulties	100147744	RNU7-1	OMIM:619487
HP:0011968	Feeding difficulties	60558	GUF1	OMIM:617065
HP:0011968	Feeding difficulties	374879	ZNF699	OMIM:619488
HP:0011968	Feeding difficulties	8239	USP9X	OMIM:300968
HP:0011968	Feeding difficulties	8239	USP9X	ORPHA:480880
HP:0011968	Feeding difficulties	10660	LBX1	OMIM:619483
HP:0011968	Feeding difficulties	9508	ADAMTS3	OMIM:618154
HP:0011968	Feeding difficulties	9373	PLAA	ORPHA:521426
HP:0011968	Feeding difficulties	9373	PLAA	OMIM:617527
HP:0011968	Feeding difficulties	57038	RARS2	OMIM:611523
HP:0011968	Feeding difficulties	199221	DZIP1L	ORPHA:731
HP:0011968	Feeding difficulties	5314	PKHD1	ORPHA:731
HP:0011968	Feeding difficulties	201595	STT3B	ORPHA:370924
HP:0011968	Feeding difficulties	201595	STT3B	OMIM:615597
HP:0011968	Feeding difficulties	23387	SIK3	OMIM:618162
HP:0011968	Feeding difficulties	6748	SSR4	ORPHA:370927
HP:0011968	Feeding difficulties	6748	SSR4	OMIM:300934
HP:0011968	Feeding difficulties	5805	PTS	OMIM:261640
HP:0011968	Feeding difficulties	2629	GBA1	ORPHA:2072
HP:0011968	Feeding difficulties	2629	GBA1	OMIM:230900
HP:0011968	Feeding difficulties	84231	TRAF7	OMIM:618164
HP:0011968	Feeding difficulties	5557	PRIM1	OMIM:620005
HP:0011968	Feeding difficulties	779	CACNA1S	OMIM:620246
HP:0011968	Feeding difficulties	1376	CPT2	ORPHA:228308
HP:0011968	Feeding difficulties	3030	HADHA	ORPHA:5
HP:0011968	Feeding difficulties	3030	HADHA	OMIM:609015
HP:0011968	Feeding difficulties	8398	PLA2G6	OMIM:610217
HP:0011968	Feeding difficulties	55294	FBXW7	OMIM:620012
HP:0011968	Feeding difficulties	5393	EXOSC9	OMIM:618065
HP:0011968	Feeding difficulties	5393	EXOSC9	ORPHA:2254
HP:0011968	Feeding difficulties	80308	FLAD1	OMIM:255100
HP:0011968	Feeding difficulties	50484	RRM2B	ORPHA:329336
HP:0011968	Feeding difficulties	50484	RRM2B	OMIM:612075
HP:0011968	Feeding difficulties	246243	RNASEH1	ORPHA:329336
HP:0011968	Feeding difficulties	7355	SLC35A2	ORPHA:356961
HP:0011968	Feeding difficulties	25821	MTO1	OMIM:614702
HP:0011968	Feeding difficulties	118429	ANTXR2	ORPHA:2176
HP:0011968	Feeding difficulties	781	CACNA2D1	OMIM:620149
HP:0011968	Feeding difficulties	781	CACNA2D1	ORPHA:442835
HP:0011968	Feeding difficulties	10667	FARS2	OMIM:614946
HP:0011968	Feeding difficulties	51343	FZR1	OMIM:620145
HP:0011968	Feeding difficulties	51343	FZR1	ORPHA:442835
HP:0011968	Feeding difficulties	64324	NSD1	ORPHA:821
HP:0011968	Feeding difficulties	64324	NSD1	OMIM:117550
HP:0011968	Feeding difficulties	29072	SETD2	ORPHA:821
HP:0011968	Feeding difficulties	29072	SETD2	OMIM:620157
HP:0011968	Feeding difficulties	29072	SETD2	OMIM:620155
HP:0011968	Feeding difficulties	10297	APC2	ORPHA:821
HP:0011968	Feeding difficulties	51506	UFC1	OMIM:618076
HP:0011968	Feeding difficulties	6392	SDHD	OMIM:619167
HP:0011968	Feeding difficulties	57465	TBC1D24	ORPHA:352596
HP:0011968	Feeding difficulties	57465	TBC1D24	ORPHA:79500
HP:0011968	Feeding difficulties	57465	TBC1D24	OMIM:615338
HP:0011968	Feeding difficulties	4552	MTRR	ORPHA:2169
HP:0011968	Feeding difficulties	79947	DHDDS	OMIM:613861
HP:0011968	Feeding difficulties	79947	DHDDS	ORPHA:442835
HP:0011968	Feeding difficulties	55788	LMBRD1	OMIM:277380
HP:0011968	Feeding difficulties	55788	LMBRD1	ORPHA:79284
HP:0011968	Feeding difficulties	6662	SOX9	OMIM:114290
HP:0011968	Feeding difficulties	10978	CLP1	OMIM:615803
HP:0011968	Feeding difficulties	771	CA12	OMIM:143860
HP:0011968	Feeding difficulties	25839	COG4	ORPHA:263501
HP:0011968	Feeding difficulties	25839	COG4	OMIM:613489
HP:0011968	Feeding difficulties	1738	DLD	ORPHA:2394
HP:0011968	Feeding difficulties	1738	DLD	OMIM:246900
HP:0011968	Feeding difficulties	4001	LMNB1	OMIM:619179
HP:0011968	Feeding difficulties	1272	CNTN1	OMIM:612540
HP:0011968	Feeding difficulties	5119	CHMP1A	OMIM:614961
HP:0011968	Feeding difficulties	23522	KAT6B	OMIM:606170
HP:0011968	Feeding difficulties	23522	KAT6B	ORPHA:85201
HP:0011968	Feeding difficulties	23522	KAT6B	OMIM:603736
HP:0011968	Feeding difficulties	23522	KAT6B	ORPHA:3047
HP:0011968	Feeding difficulties	114034	TOE1	OMIM:614969
HP:0011968	Feeding difficulties	9570	GOSR2	OMIM:620166
HP:0011968	Feeding difficulties	64087	MCCC2	OMIM:210210
HP:0011968	Feeding difficulties	54675	CRLS1	OMIM:620167
HP:0011968	Feeding difficulties	51057	WDPCP	OMIM:217085
HP:0011968	Feeding difficulties	501	ALDH7A1	ORPHA:3006
HP:0011968	Feeding difficulties	11212	PLPBP	ORPHA:3006
HP:0011968	Feeding difficulties	64919	BCL11B	OMIM:618092
HP:0011968	Feeding difficulties	23036	ZNF292	OMIM:619188
HP:0011968	Feeding difficulties	6885	MAP3K7	OMIM:157800
HP:0011968	Feeding difficulties	55636	CHD7	OMIM:214800
HP:0011968	Feeding difficulties	1906	EDN1	ORPHA:137888
HP:0011968	Feeding difficulties	5332	PLCB4	ORPHA:137888
HP:0011968	Feeding difficulties	5332	PLCB4	OMIM:614669
HP:0011968	Feeding difficulties	2773	GNAI3	ORPHA:137888
HP:0011968	Feeding difficulties	25942	SIN3A	OMIM:613406
HP:0011968	Feeding difficulties	25942	SIN3A	ORPHA:94065
HP:0011968	Feeding difficulties	84947	SERAC1	OMIM:614739
HP:0011968	Feeding difficulties	54496	PRMT7	ORPHA:464288
HP:0011968	Feeding difficulties	54496	PRMT7	OMIM:617157
HP:0011968	Feeding difficulties	6234	RPS28	OMIM:606164
HP:0011968	Feeding difficulties	9653	HS2ST1	OMIM:619194
HP:0011968	Feeding difficulties	1798	DPAGT1	ORPHA:86309
HP:0011968	Feeding difficulties	26053	AUTS2	OMIM:615834
HP:0011968	Feeding difficulties	79753	SNIP1	OMIM:614501
HP:0011968	Feeding difficulties	3211	HOXB1	OMIM:614744
HP:0011968	Feeding difficulties	25977	NECAP1	OMIM:615833
HP:0011968	Feeding difficulties	25977	NECAP1	ORPHA:442835
HP:0011968	Feeding difficulties	10056	FARSB	OMIM:613658
HP:0011968	Feeding difficulties	54499	TMCO1	OMIM:213980
HP:0011968	Feeding difficulties	11128	POLR3A	OMIM:264090
HP:0011968	Feeding difficulties	11128	POLR3A	ORPHA:3455
HP:0011968	Feeding difficulties	55719	SLF2	OMIM:620184
HP:0011968	Feeding difficulties	2255	FGF10	OMIM:620193
HP:0011968	Feeding difficulties	79759	ZNF668	OMIM:620194
HP:0011968	Feeding difficulties	1737	DLAT	OMIM:245348
HP:0011968	Feeding difficulties	57459	GATAD2B	ORPHA:363686
HP:0011968	Feeding difficulties	440138	ALG11	OMIM:613661
HP:0011968	Feeding difficulties	440138	ALG11	ORPHA:280071
HP:0011968	Feeding difficulties	50506	DUOX2	ORPHA:226316
HP:0011968	Feeding difficulties	64135	IFIH1	OMIM:615846
HP:0011968	Feeding difficulties	10472	ZBTB18	OMIM:612337
HP:0011968	Feeding difficulties	9440	MED17	OMIM:613668
HP:0011968	Feeding difficulties	6605	SMARCE1	OMIM:616938
HP:0011968	Feeding difficulties	6605	SMARCE1	ORPHA:1465
HP:0011968	Feeding difficulties	2535	FZD2	OMIM:164745
HP:0011968	Feeding difficulties	51322	WAC	ORPHA:284169
HP:0011968	Feeding difficulties	51322	WAC	OMIM:616708
HP:0011968	Feeding difficulties	1374	CPT1A	OMIM:255120
HP:0011968	Feeding difficulties	5048	PAFAH1B1	ORPHA:95232
HP:0011968	Feeding difficulties	6314	ATXN7	ORPHA:94147
HP:0011968	Feeding difficulties	171023	ASXL1	OMIM:605039
HP:0011968	Feeding difficulties	22907	DHX30	OMIM:617804
HP:0011968	Feeding difficulties	7351	UCP2	ORPHA:276556
HP:0011968	Feeding difficulties	57724	EPG5	ORPHA:1493
HP:0011968	Feeding difficulties	9230	RAB11B	OMIM:617807
HP:0011968	Feeding difficulties	54704	PDP1	OMIM:608782
HP:0011968	Feeding difficulties	55906	ZC4H2	OMIM:301041
HP:0011968	Feeding difficulties	55906	ZC4H2	OMIM:314580
HP:0011968	Feeding difficulties	91949	COG7	OMIM:608779
HP:0011968	Feeding difficulties	91949	COG7	ORPHA:79333
HP:0011968	Feeding difficulties	1305	COL13A1	OMIM:616720
HP:0011968	Feeding difficulties	1305	COL13A1	ORPHA:98914
HP:0011968	Feeding difficulties	29123	ANKRD11	ORPHA:2332
HP:0011968	Feeding difficulties	29123	ANKRD11	ORPHA:261250
HP:0011968	Feeding difficulties	23028	KDM1A	OMIM:616728
HP:0011968	Feeding difficulties	10229	COQ7	OMIM:616733
HP:0011968	Feeding difficulties	54931	TRMT10C	OMIM:616974
HP:0011968	Feeding difficulties	2782	GNB1	OMIM:616973
HP:0011968	Feeding difficulties	2782	GNB1	ORPHA:488613
HP:0011968	Feeding difficulties	4893	NRAS	OMIM:613224
HP:0011968	Feeding difficulties	83479	DDX59	OMIM:174300
HP:0011968	Feeding difficulties	8085	KMT2D	ORPHA:2322
HP:0011968	Feeding difficulties	7403	KDM6A	ORPHA:2322
HP:0011968	Feeding difficulties	3097	HIVEP2	OMIM:616977
HP:0011968	Feeding difficulties	55033	FKBP14	OMIM:614557
HP:0011968	Feeding difficulties	2561	GABRB2	OMIM:617829
HP:0011968	Feeding difficulties	2561	GABRB2	ORPHA:442835
HP:0011968	Feeding difficulties	6833	ABCC8	ORPHA:276575
HP:0011968	Feeding difficulties	90161	HS6ST2	OMIM:301025
HP:0011968	Feeding difficulties	85358	SHANK3	ORPHA:48652
HP:0011968	Feeding difficulties	85358	SHANK3	OMIM:606232
HP:0011968	Feeding difficulties	6597	SMARCA4	ORPHA:1465
HP:0011968	Feeding difficulties	6597	SMARCA4	OMIM:614609
HP:0011968	Feeding difficulties	6598	SMARCB1	ORPHA:1465
HP:0011968	Feeding difficulties	6598	SMARCB1	OMIM:614608
HP:0011968	Feeding difficulties	8289	ARID1A	ORPHA:1465
HP:0011968	Feeding difficulties	8289	ARID1A	OMIM:614607
HP:0011968	Feeding difficulties	5977	DPF2	ORPHA:1465
HP:0011968	Feeding difficulties	5977	DPF2	OMIM:618027
HP:0011968	Feeding difficulties	6602	SMARCD1	ORPHA:1465
HP:0011968	Feeding difficulties	57492	ARID1B	ORPHA:1465
HP:0011968	Feeding difficulties	196528	ARID2	ORPHA:1465
HP:0011968	Feeding difficulties	6664	SOX11	ORPHA:1465
HP:0011968	Feeding difficulties	4915	NTRK2	OMIM:617830
HP:0011968	Feeding difficulties	4915	NTRK2	ORPHA:442835
HP:0011968	Feeding difficulties	9378	NRXN1	OMIM:614325
HP:0011968	Feeding difficulties	81620	CDT1	ORPHA:2554
HP:0011968	Feeding difficulties	81620	CDT1	OMIM:613804
HP:0011968	Feeding difficulties	5000	ORC4	ORPHA:2554
HP:0011968	Feeding difficulties	5000	ORC4	OMIM:613800
HP:0011968	Feeding difficulties	23594	ORC6	ORPHA:2554
HP:0011968	Feeding difficulties	23594	ORC6	OMIM:613803
HP:0011968	Feeding difficulties	8318	CDC45	ORPHA:2554
HP:0011968	Feeding difficulties	990	CDC6	ORPHA:2554
HP:0011968	Feeding difficulties	990	CDC6	OMIM:613805
HP:0011968	Feeding difficulties	4998	ORC1	ORPHA:2554
HP:0011968	Feeding difficulties	51053	GMNN	ORPHA:2554
HP:0011968	Feeding difficulties	51053	GMNN	OMIM:616835
HP:0011968	Feeding difficulties	54539	NDUFB11	ORPHA:2556
HP:0011968	Feeding difficulties	54539	NDUFB11	ORPHA:2609
HP:0011968	Feeding difficulties	1349	COX7B	ORPHA:2556
HP:0011968	Feeding difficulties	3052	HCCS	ORPHA:2556
HP:0011968	Feeding difficulties	5422	POLA1	OMIM:301030
HP:0011968	Feeding difficulties	10943	MSL3	OMIM:301032
HP:0011968	Feeding difficulties	5723	PSPH	ORPHA:79350
HP:0011968	Feeding difficulties	26227	PHGDH	ORPHA:79351
HP:0011968	Feeding difficulties	3868	KRT16	ORPHA:2309
HP:0011968	Feeding difficulties	3872	KRT17	ORPHA:2309
HP:0011968	Feeding difficulties	3853	KRT6A	ORPHA:2309
HP:0011968	Feeding difficulties	3854	KRT6B	ORPHA:2309
HP:0011968	Feeding difficulties	9343	EFTUD2	ORPHA:79113
HP:0011968	Feeding difficulties	9997	SCO2	OMIM:604377
HP:0011968	Feeding difficulties	8270	LAGE3	OMIM:301006
HP:0011968	Feeding difficulties	5167	ENPP1	ORPHA:51608
HP:0011968	Feeding difficulties	368	ABCC6	ORPHA:51608
HP:0011968	Feeding difficulties	11222	MRPL3	OMIM:614582
HP:0011968	Feeding difficulties	8929	PHOX2B	OMIM:209880
HP:0011968	Feeding difficulties	81689	ISCA1	OMIM:617613
HP:0011968	Feeding difficulties	1213	CLTC	OMIM:617854
HP:0011968	Feeding difficulties	1213	CLTC	ORPHA:442835
HP:0011968	Feeding difficulties	9894	TELO2	ORPHA:488642
HP:0011968	Feeding difficulties	4329	ALDH6A1	OMIM:614105
HP:0011968	Feeding difficulties	80152	CENPT	OMIM:618702
HP:0011968	Feeding difficulties	3425	IDUA	ORPHA:93473
HP:0011968	Feeding difficulties	8936	WASF1	OMIM:618707
HP:0011968	Feeding difficulties	1718	DHCR24	ORPHA:35107
HP:0011968	Feeding difficulties	55617	TASP1	OMIM:618950
HP:0011968	Feeding difficulties	57688	ZSWIM6	OMIM:617865
HP:0011968	Feeding difficulties	51816	ADA2	OMIM:615688
HP:0011968	Feeding difficulties	2893	GRIA4	OMIM:617864
HP:0011968	Feeding difficulties	57570	TRMT5	OMIM:616539
HP:0011968	Feeding difficulties	60482	SLC5A7	ORPHA:98914
HP:0011968	Feeding difficulties	60482	SLC5A7	OMIM:617143
HP:0011968	Feeding difficulties	4649	MYO9A	ORPHA:98914
HP:0011968	Feeding difficulties	4649	MYO9A	OMIM:618198
HP:0011968	Feeding difficulties	1103	CHAT	ORPHA:98914
HP:0011968	Feeding difficulties	6576	SLC25A1	ORPHA:98914
HP:0011968	Feeding difficulties	6576	SLC25A1	OMIM:615182
HP:0011968	Feeding difficulties	375790	AGRN	ORPHA:98914
HP:0011968	Feeding difficulties	127833	SYT2	ORPHA:98914
HP:0011968	Feeding difficulties	6616	SNAP25	ORPHA:98914
HP:0011968	Feeding difficulties	10522	DEAF1	ORPHA:468620
HP:0011968	Feeding difficulties	4038	LRP4	OMIM:616304
HP:0011968	Feeding difficulties	10274	STAG1	OMIM:617635
HP:0011968	Feeding difficulties	10274	STAG1	ORPHA:502434
HP:0011968	Feeding difficulties	2902	GRIN1	OMIM:619814
HP:0011968	Feeding difficulties	2902	GRIN1	ORPHA:208447
HP:0011968	Feeding difficulties	2902	GRIN1	OMIM:614254
HP:0011968	Feeding difficulties	5879	RAC1	ORPHA:500159
HP:0011968	Feeding difficulties	5449	POU1F1	OMIM:613038
HP:0011968	Feeding difficulties	6261	RYR1	ORPHA:98905
HP:0011968	Feeding difficulties	6261	RYR1	ORPHA:424107
HP:0011968	Feeding difficulties	6261	RYR1	OMIM:117000
HP:0011968	Feeding difficulties	26123	TCTN3	ORPHA:2753
HP:0011968	Feeding difficulties	71	ACTG1	ORPHA:2995
HP:0011968	Feeding difficulties	60	ACTB	ORPHA:2995
HP:0011968	Feeding difficulties	5087	PBX1	OMIM:617641
HP:0011968	Feeding difficulties	5087	PBX1	ORPHA:97362
HP:0011968	Feeding difficulties	1140	CHRNB1	OMIM:616314
HP:0011968	Feeding difficulties	7252	TSHB	OMIM:275100
HP:0011968	Feeding difficulties	246329	STAC3	OMIM:255995
HP:0011968	Feeding difficulties	246329	STAC3	ORPHA:168572
HP:0011968	Feeding difficulties	8036	SHOC2	OMIM:607721
HP:0011968	Feeding difficulties	25915	NDUFAF3	ORPHA:2609
HP:0011968	Feeding difficulties	25915	NDUFAF3	OMIM:618240
HP:0011968	Feeding difficulties	51103	NDUFAF1	ORPHA:2609
HP:0011968	Feeding difficulties	91942	NDUFAF2	ORPHA:2609
HP:0011968	Feeding difficulties	91942	NDUFAF2	OMIM:618233
HP:0011968	Feeding difficulties	51300	TIMMDC1	ORPHA:2609
HP:0011968	Feeding difficulties	4716	NDUFB10	ORPHA:2609
HP:0011968	Feeding difficulties	4723	NDUFV1	ORPHA:2609
HP:0011968	Feeding difficulties	55572	FOXRED1	ORPHA:2609
HP:0011968	Feeding difficulties	55572	FOXRED1	OMIM:618241
HP:0011968	Feeding difficulties	284184	NDUFAF8	ORPHA:2609
HP:0011968	Feeding difficulties	55863	TMEM126B	ORPHA:2609
HP:0011968	Feeding difficulties	4535	MT-ND1	ORPHA:2609
HP:0011968	Feeding difficulties	4537	MT-ND3	ORPHA:2609
HP:0011968	Feeding difficulties	4729	NDUFV2	ORPHA:2609
HP:0011968	Feeding difficulties	4729	NDUFV2	OMIM:618229
HP:0011968	Feeding difficulties	4694	NDUFA1	ORPHA:2609
HP:0011968	Feeding difficulties	4720	NDUFS2	ORPHA:2609
HP:0011968	Feeding difficulties	4724	NDUFS4	ORPHA:2609
HP:0011968	Feeding difficulties	4726	NDUFS6	ORPHA:2609
HP:0011968	Feeding difficulties	4726	NDUFS6	OMIM:618232
HP:0011968	Feeding difficulties	4728	NDUFS8	ORPHA:2609
HP:0011968	Feeding difficulties	4728	NDUFS8	OMIM:618222
HP:0011968	Feeding difficulties	4722	NDUFS3	ORPHA:2609
HP:0011968	Feeding difficulties	79133	NDUFAF5	ORPHA:2609
HP:0011968	Feeding difficulties	79133	NDUFAF5	OMIM:618238
HP:0011968	Feeding difficulties	126328	NDUFA11	ORPHA:2609
HP:0011968	Feeding difficulties	4709	NDUFB3	ORPHA:2609
HP:0011968	Feeding difficulties	4709	NDUFB3	OMIM:618246
HP:0011968	Feeding difficulties	80224	NUBPL	ORPHA:2609
HP:0011968	Feeding difficulties	29078	NDUFAF4	ORPHA:2609
HP:0011968	Feeding difficulties	374291	NDUFS7	ORPHA:2609
HP:0011968	Feeding difficulties	374291	NDUFS7	OMIM:618224
HP:0011968	Feeding difficulties	4700	NDUFA6	ORPHA:2609
HP:0011968	Feeding difficulties	4700	NDUFA6	OMIM:618253
HP:0011968	Feeding difficulties	4536	MT-ND2	ORPHA:2609
HP:0011968	Feeding difficulties	4719	NDUFS1	ORPHA:2609
HP:0011968	Feeding difficulties	4715	NDUFB9	ORPHA:2609
HP:0011968	Feeding difficulties	8367	H4C5	OMIM:619950
HP:0011968	Feeding difficulties	104	ADARB1	OMIM:618862
HP:0011968	Feeding difficulties	8294	H4C9	OMIM:619951
HP:0011968	Feeding difficulties	57128	LYRM4	OMIM:615595
HP:0011968	Feeding difficulties	3703	STT3A	OMIM:615596
HP:0011968	Feeding difficulties	3703	STT3A	ORPHA:370921
HP:0011968	Feeding difficulties	2132	EXT2	OMIM:616682
HP:0011968	Feeding difficulties	8425	LTBP4	OMIM:613177
HP:0011968	Feeding difficulties	1161	ERCC8	ORPHA:90324
HP:0011968	Feeding difficulties	2074	ERCC6	ORPHA:90324
HP:0011968	Feeding difficulties	6016	RIT1	OMIM:615355
HP:0011968	Feeding difficulties	10054	UBA2	OMIM:619959
HP:0011968	Feeding difficulties	51126	NAA20	OMIM:619717
HP:0011968	Feeding difficulties	60684	TRAPPC11	OMIM:615356
HP:0011968	Feeding difficulties	1355	COX15	OMIM:615119
HP:0011968	Feeding difficulties	3008	H1-4	OMIM:617537
HP:0011968	Feeding difficulties	84942	WDR73	OMIM:251300
HP:0011968	Feeding difficulties	79848	CSPP1	ORPHA:397715
HP:0011968	Feeding difficulties	9786	KIAA0586	ORPHA:397715
HP:0011968	Feeding difficulties	51111	KMT5B	OMIM:617788
HP:0011968	Feeding difficulties	80155	NAA15	OMIM:617787
HP:0011968	Feeding difficulties	5189	PEX1	OMIM:214100
HP:0011968	Feeding difficulties	6660	SOX5	ORPHA:313892
HP:0011968	Feeding difficulties	535	ATP6V0A1	OMIM:619971
HP:0011968	Feeding difficulties	2590	GALNT2	OMIM:618885
HP:0011968	Feeding difficulties	10584	COLEC10	OMIM:248340
HP:0011968	Feeding difficulties	55870	ASH1L	OMIM:617796
HP:0011968	Feeding difficulties	91869	RFT1	ORPHA:244310
HP:0011968	Feeding difficulties	91869	RFT1	OMIM:612015
HP:0011968	Feeding difficulties	9692	PRORP	OMIM:619737
HP:0011968	Feeding difficulties	816	CAMK2B	OMIM:617799
HP:0011968	Feeding difficulties	9581	PREPL	OMIM:616224
HP:0011968	Feeding difficulties	9326	ZNHIT3	ORPHA:2836
HP:0011968	Feeding difficulties	547	KIF1A	ORPHA:2836
HP:0011968	Feeding difficulties	1183	CLCN4	ORPHA:485350
HP:0011968	Feeding difficulties	1656	DDX6	OMIM:618653
HP:0011968	Feeding difficulties	4297	KMT2A	ORPHA:319182
HP:0011968	Feeding difficulties	4297	KMT2A	OMIM:605130
HP:0011968	Feeding difficulties	54872	PIGG	ORPHA:488635
HP:0011968	Feeding difficulties	2783	GNB2	OMIM:619503
HP:0011968	Feeding difficulties	4632	MYL1	OMIM:618414
HP:0011968	Feeding difficulties	26057	ANKRD17	OMIM:619504
HP:0011968	Feeding difficulties	79731	NARS2	OMIM:616239
HP:0011968	Feeding difficulties	3737	KCNA2	ORPHA:442835
HP:0011968	Feeding difficulties	1759	DNM1	ORPHA:442835
HP:0011968	Feeding difficulties	1759	DNM1	OMIM:620352
HP:0011968	Feeding difficulties	8120	AP3B2	ORPHA:442835
HP:0011968	Feeding difficulties	523	ATP6V1A	ORPHA:442835
HP:0011968	Feeding difficulties	523	ATP6V1A	ORPHA:357074
HP:0011968	Feeding difficulties	10991	SLC38A3	ORPHA:442835
HP:0011968	Feeding difficulties	22906	TRAK1	ORPHA:442835
HP:0011968	Feeding difficulties	2566	GABRG2	ORPHA:442835
HP:0011968	Feeding difficulties	1917	EEF1A2	ORPHA:442835
HP:0011968	Feeding difficulties	8831	SYNGAP1	ORPHA:442835
HP:0011968	Feeding difficulties	7532	YWHAG	ORPHA:442835
HP:0011968	Feeding difficulties	79876	UBA5	ORPHA:442835
HP:0011968	Feeding difficulties	79876	UBA5	OMIM:617132
HP:0011968	Feeding difficulties	2558	GABRA5	ORPHA:442835
HP:0011968	Feeding difficulties	2906	GRIN2D	ORPHA:442835
HP:0011968	Feeding difficulties	2906	GRIN2D	OMIM:617162
HP:0011968	Feeding difficulties	116150	NUS1	ORPHA:442835
HP:0011968	Feeding difficulties	10659	CELF2	ORPHA:442835
HP:0011968	Feeding difficulties	774	CACNA1B	ORPHA:442835
HP:0011968	Feeding difficulties	774	CACNA1B	OMIM:618497
HP:0011968	Feeding difficulties	51741	WWOX	ORPHA:442835
HP:0011968	Feeding difficulties	23334	SZT2	ORPHA:442835
HP:0011968	Feeding difficulties	51412	ACTL6B	ORPHA:442835
HP:0011968	Feeding difficulties	348980	HCN1	ORPHA:442835
HP:0011968	Feeding difficulties	6506	SLC1A2	ORPHA:442835
HP:0011968	Feeding difficulties	6506	SLC1A2	OMIM:617105
HP:0011968	Feeding difficulties	8867	SYNJ1	ORPHA:442835
HP:0011968	Feeding difficulties	8867	SYNJ1	OMIM:617389
HP:0011968	Feeding difficulties	2258	FGF13	ORPHA:442835
HP:0011968	Feeding difficulties	477	ATP1A2	ORPHA:442835
HP:0011968	Feeding difficulties	3745	KCNB1	ORPHA:442835
HP:0011968	Feeding difficulties	284111	SLC13A5	ORPHA:442835
HP:0011968	Feeding difficulties	16	AARS1	ORPHA:442835
HP:0011968	Feeding difficulties	6334	SCN8A	ORPHA:442835
HP:0011968	Feeding difficulties	22866	CNKSR2	ORPHA:442835
HP:0011968	Feeding difficulties	9568	GABBR2	ORPHA:442835
HP:0011968	Feeding difficulties	9568	GABBR2	ORPHA:3095
HP:0011968	Feeding difficulties	2555	GABRA2	ORPHA:442835
HP:0011968	Feeding difficulties	773	CACNA1A	ORPHA:442835
HP:0011968	Feeding difficulties	26999	CYFIP2	ORPHA:442835
HP:0011968	Feeding difficulties	25973	PARS2	ORPHA:442835
HP:0011968	Feeding difficulties	23097	CDK19	ORPHA:442835
HP:0011968	Feeding difficulties	64801	ARV1	ORPHA:442835
HP:0011968	Feeding difficulties	2257	FGF12	ORPHA:442835
HP:0011968	Feeding difficulties	2257	FGF12	OMIM:617166
HP:0011968	Feeding difficulties	5530	PPP3CA	ORPHA:442835
HP:0011968	Feeding difficulties	5530	PPP3CA	OMIM:617711
HP:0011968	Feeding difficulties	478	ATP1A3	ORPHA:442835
HP:0011968	Feeding difficulties	9056	SLC7A7	ORPHA:470
HP:0011968	Feeding difficulties	1182	CLCN3	OMIM:619512
HP:0011968	Feeding difficulties	1182	CLCN3	OMIM:619517
HP:0011968	Feeding difficulties	3043	HBB	ORPHA:231214
HP:0011968	Feeding difficulties	3043	HBB	ORPHA:231226
HP:0011968	Feeding difficulties	7862	BRPF1	OMIM:617333
HP:0011968	Feeding difficulties	54914	FOCAD	OMIM:619991
HP:0011968	Feeding difficulties	3481	IGF2	OMIM:616489
HP:0011968	Feeding difficulties	8021	NUP214	OMIM:618426
HP:0011968	Feeding difficulties	4191	MDH2	OMIM:617339
HP:0011968	Feeding difficulties	8364	H4C3	OMIM:619758
HP:0011968	Feeding difficulties	286	ANK1	ORPHA:251066
HP:0011968	Feeding difficulties	8659	ALDH4A1	ORPHA:79101
HP:0011968	Feeding difficulties	23474	ETHE1	OMIM:602473
HP:0011968	Feeding difficulties	415	ARSL	ORPHA:79345
HP:0011968	Feeding difficulties	145258	GSC	OMIM:602471
HP:0011968	Feeding difficulties	554	AVPR2	ORPHA:223
HP:0011968	Feeding difficulties	359	AQP2	ORPHA:223
HP:0011968	Feeding difficulties	8314	BAP1	OMIM:619762
HP:0011968	Feeding difficulties	7750	ZMYM2	OMIM:619522
HP:0011968	Feeding difficulties	27086	FOXP1	ORPHA:391372
HP:0011968	Feeding difficulties	6942	TCF20	OMIM:618430
HP:0011968	Feeding difficulties	51341	ZBTB7A	OMIM:619769
HP:0011968	Feeding difficulties	9968	MED12	OMIM:301068
HP:0011968	Feeding difficulties	9968	MED12	OMIM:300895
HP:0011968	Feeding difficulties	4626	MYH8	OMIM:158300
HP:0011968	Feeding difficulties	5373	PMM2	ORPHA:79318
HP:0011968	Feeding difficulties	55120	FANCL	OMIM:614083
HP:0011968	Feeding difficulties	10463	SLC30A9	OMIM:617595
HP:0011968	Feeding difficulties	51227	PIGP	OMIM:617599
HP:0011968	Feeding difficulties	2006	ELN	ORPHA:90348
HP:0011968	Feeding difficulties	10516	FBLN5	ORPHA:90348
HP:0011968	Feeding difficulties	5832	ALDH18A1	ORPHA:90348
HP:0011968	Feeding difficulties	5832	ALDH18A1	OMIM:616603
HP:0011968	Feeding difficulties	3785	KCNQ2	ORPHA:439218
HP:0011968	Feeding difficulties	1107	CHD3	OMIM:618205
HP:0011968	Feeding difficulties	29929	ALG6	ORPHA:79320
HP:0011968	Feeding difficulties	10195	ALG3	ORPHA:79321
HP:0011968	Feeding difficulties	79053	ALG8	ORPHA:79325
HP:0011968	Feeding difficulties	9896	FIG4	OMIM:216340
HP:0011968	Feeding difficulties	6595	SMARCA2	OMIM:601358
HP:0011968	Feeding difficulties	6595	SMARCA2	OMIM:619293
HP:0011968	Feeding difficulties	27247	NFU1	OMIM:605711
HP:0011968	Feeding difficulties	57505	AARS2	OMIM:614096
HP:0011968	Feeding difficulties	8295	TRRAP	OMIM:618454
HP:0011968	Feeding difficulties	6927	HNF1A	ORPHA:324575
HP:0011968	Feeding difficulties	81570	CLPB	OMIM:616271
HP:0011968	Feeding difficulties	81570	CLPB	ORPHA:445038
HP:0011968	Feeding difficulties	8621	CDK13	OMIM:617360
HP:0011968	Feeding difficulties	1892	ECHS1	OMIM:616277
HP:0011968	Feeding difficulties	3658	IREB2	OMIM:618451
HP:0011968	Feeding difficulties	5587	PRKD1	OMIM:617364
HP:0011968	Feeding difficulties	6857	SYT1	OMIM:618218
HP:0011968	Feeding difficulties	6857	SYT1	ORPHA:522077
HP:0011968	Feeding difficulties	79751	SLC25A22	ORPHA:1935
HP:0011968	Feeding difficulties	4594	MMUT	ORPHA:79312
HP:0011968	Feeding difficulties	5076	PAX2	ORPHA:97362
HP:0011968	Feeding difficulties	6492	SIM1	ORPHA:369873
HP:0011968	Feeding difficulties	51422	PRKAG2	OMIM:261740
HP:0011968	Feeding difficulties	9759	HDAC4	OMIM:619797
HP:0011968	Feeding difficulties	9759	HDAC4	OMIM:600430
HP:0011968	Feeding difficulties	30000	TNPO2	OMIM:619556
HP:0011968	Feeding difficulties	54892	NCAPG2	OMIM:618460
HP:0011968	Feeding difficulties	112	ADCY6	OMIM:616287
HP:0011968	Feeding difficulties	85476	GFM1	OMIM:609060
HP:0011968	Feeding difficulties	9256	TSPOAP1	ORPHA:101150
HP:0011968	Feeding difficulties	7054	TH	ORPHA:101150
HP:0011968	Feeding difficulties	6792	CDKL5	ORPHA:3095
HP:0011968	Feeding difficulties	22854	NTNG1	ORPHA:3095
HP:0011968	Feeding difficulties	4204	MECP2	ORPHA:3095
HP:0011968	Feeding difficulties	4204	MECP2	OMIM:300260
HP:0011968	Feeding difficulties	26275	HIBCH	ORPHA:88639
HP:0011968	Feeding difficulties	26275	HIBCH	OMIM:250620
HP:0011968	Feeding difficulties	4695	NDUFA2	OMIM:618235
HP:0011968	Feeding difficulties	79868	ALG13	OMIM:300884
HP:0011968	Feeding difficulties	29998	BICRA	OMIM:619325
HP:0011968	Feeding difficulties	6329	SCN4A	OMIM:168300
HP:0011968	Feeding difficulties	6329	SCN4A	ORPHA:684
HP:0011968	Feeding difficulties	10166	SLC25A15	ORPHA:415
HP:0011968	Feeding difficulties	6904	TBCD	ORPHA:496641
HP:0011968	Feeding difficulties	6904	TBCD	OMIM:617193
HP:0011968	Feeding difficulties	4976	OPA1	ORPHA:98673
HP:0011968	Feeding difficulties	57551	TAOK1	OMIM:619575
HP:0011968	Feeding difficulties	56915	EXOSC5	OMIM:619576
HP:0011968	Feeding difficulties	2530	FUT8	OMIM:618005
HP:0011968	Feeding difficulties	112939	NACC1	OMIM:617393
HP:0011968	Feeding difficulties	50619	DEF6	OMIM:619573
HP:0011968	Feeding difficulties	8260	NAA10	OMIM:300855
HP:0011968	Feeding difficulties	7965	AIMP2	OMIM:618006
HP:0011968	Feeding difficulties	29920	PYCR2	ORPHA:481152
HP:0011968	Feeding difficulties	3913	LAMB2	OMIM:609049
HP:0011968	Feeding difficulties	372	ARCN1	OMIM:617164
HP:0011968	Feeding difficulties	3977	LIFR	OMIM:601559
HP:0011968	Feeding difficulties	51305	KCNK9	ORPHA:166108
HP:0011968	Feeding difficulties	60386	SLC25A19	ORPHA:99742
HP:0011968	Feeding difficulties	11340	EXOSC8	OMIM:616081
HP:0011968	Feeding difficulties	11340	EXOSC8	ORPHA:2254
HP:0011968	Feeding difficulties	3975	LHX1	ORPHA:261265
HP:0011968	Feeding difficulties	6928	HNF1B	ORPHA:261265
HP:0011968	Feeding difficulties	57003	CCDC47	OMIM:618268
HP:0011968	Feeding difficulties	35	ACADS	OMIM:201470
HP:0011968	Feeding difficulties	35	ACADS	ORPHA:26792
HP:0011968	Feeding difficulties	526	ATP6V1B2	ORPHA:79500
HP:0011968	Feeding difficulties	374354	NHLRC2	OMIM:618278
HP:0011968	Feeding difficulties	6566	SLC16A1	OMIM:616095
HP:0011968	Feeding difficulties	23287	AGTPBP1	OMIM:618276
HP:0011968	Feeding difficulties	23287	AGTPBP1	ORPHA:2254
HP:0011968	Feeding difficulties	23529	CLCF1	OMIM:610313
HP:0011968	Feeding difficulties	23529	CLCF1	ORPHA:1545
HP:0011968	Feeding difficulties	498	ATP5F1A	OMIM:620358
HP:0011968	Feeding difficulties	118924	FRA10AC1	OMIM:620113
HP:0011968	Feeding difficulties	8911	CACNA1I	OMIM:620114
HP:0011968	Feeding difficulties	2733	GLE1	OMIM:611890
HP:0011968	Feeding difficulties	1583	CYP11A1	ORPHA:168558
HP:0011968	Feeding difficulties	1583	CYP11A1	ORPHA:289548
HP:0011968	Feeding difficulties	55005	RMND1	OMIM:614922
HP:0011968	Feeding difficulties	124454	EARS2	OMIM:614924
HP:0011968	Feeding difficulties	1719	DHFR	OMIM:613839
HP:0011968	Feeding difficulties	23299	BICD2	OMIM:618291
HP:0011968	Feeding difficulties	11011	TLK2	OMIM:618050
HP:0011968	Feeding difficulties	4914	NTRK1	ORPHA:642
HP:0011968	Feeding difficulties	129285	PPP1R21	OMIM:619383
HP:0011968	Feeding difficulties	27161	AGO2	OMIM:619149
HP:0011968	Feeding difficulties	221927	BRAT1	OMIM:618056
HP:0011968	Feeding difficulties	221927	BRAT1	OMIM:614498
HP:0011968	Feeding difficulties	10535	RNASEH2A	OMIM:610333
HP:0011968	Feeding difficulties	54938	SARS2	OMIM:613845
HP:0011968	Feeding difficulties	83483	PLVAP	OMIM:618183
HP:0011968	Feeding difficulties	27183	VPS4A	OMIM:619273
HP:0011968	Feeding difficulties	10046	MAMLD1	ORPHA:456328
HP:0011968	Feeding difficulties	4534	MTM1	ORPHA:456328
HP:0011968	Feeding difficulties	55503	TRPV6	OMIM:618188
HP:0011968	Feeding difficulties	347734	SLC35B2	OMIM:620269
HP:0011968	Feeding difficulties	1119	CHKA	OMIM:620023
HP:0011968	Feeding difficulties	8496	PPFIBP1	OMIM:620024
HP:0011968	Feeding difficulties	51218	GLRX5	ORPHA:401866
HP:0011968	Feeding difficulties	6531	SLC6A3	ORPHA:238455
HP:0011968	Feeding difficulties	6531	SLC6A3	OMIM:613135
HP:0011968	Feeding difficulties	10324	KLHL41	ORPHA:171436
HP:0011968	Feeding difficulties	10324	KLHL41	ORPHA:171439
HP:0011968	Feeding difficulties	1073	CFL2	ORPHA:171436
HP:0011968	Feeding difficulties	9442	MED27	OMIM:619286
HP:0011968	Feeding difficulties	5015	OTX2	OMIM:613986
HP:0011968	Feeding difficulties	55163	PNPO	ORPHA:79096
HP:0011968	Feeding difficulties	1340	COX6B1	OMIM:619051
HP:0011968	Feeding difficulties	51360	MBTPS2	ORPHA:2273
HP:0011968	Feeding difficulties	100131801	PET100	OMIM:619055
HP:0011968	Feeding difficulties	9739	SETD1A	OMIM:619056
HP:0011968	Feeding difficulties	93986	FOXP2	ORPHA:209908
HP:0011968	Feeding difficulties	55107	ANO1	OMIM:620045
HP:0011968	Feeding difficulties	1717	DHCR7	OMIM:270400
HP:0011968	Feeding difficulties	4212	MEIS2	OMIM:600987
HP:0011968	Feeding difficulties	4338	MOCS2	OMIM:252160
HP:0011968	Feeding difficulties	5826	ABCD4	OMIM:614857
HP:0011968	Feeding difficulties	1267	CNP	OMIM:619071
HP:0011968	Feeding difficulties	2627	GATA6	ORPHA:2255
HP:0011968	Feeding difficulties	51010	EXOSC3	ORPHA:2254
HP:0011968	Feeding difficulties	51010	EXOSC3	OMIM:614678
HP:0011968	Feeding difficulties	7443	VRK1	ORPHA:2254
HP:0011968	Feeding difficulties	91137	SLC25A46	ORPHA:2254
HP:0011968	Feeding difficulties	9289	ADGRG1	ORPHA:98889
HP:0011968	Feeding difficulties	5297	PI4KA	ORPHA:98889
HP:0011968	Feeding difficulties	27286	SRPX2	ORPHA:98889
HP:0011968	Feeding difficulties	83475	DOHH	OMIM:620066
HP:0011968	Feeding difficulties	10236	HNRNPR	OMIM:620073
HP:0011968	Feeding difficulties	51611	DPH5	OMIM:620070
HP:0011968	Feeding difficulties	8905	AP1S2	ORPHA:85329
HP:0011968	Feeding difficulties	6558	SLC12A2	OMIM:619080
HP:0011968	Feeding difficulties	6628	SNRPB	ORPHA:1393
HP:0011968	Feeding difficulties	4306	NR3C2	OMIM:177735
HP:0011968	Feeding difficulties	3845	KRAS	ORPHA:3339
HP:0011968	Feeding difficulties	55670	PEX26	OMIM:614872
HP:0011968	Feeding difficulties	7025	NR2F1	OMIM:615722
HP:0011968	Feeding difficulties	3187	HNRNPH1	OMIM:620083
HP:0011968	Feeding difficulties	5194	PEX13	OMIM:614885
HP:0011968	Feeding difficulties	8504	PEX3	OMIM:614882
HP:0011968	Feeding difficulties	2261	FGFR3	OMIM:100800
HP:0011968	Feeding difficulties	162417	NAGS	ORPHA:927
HP:0011968	Feeding difficulties	84665	MYPN	ORPHA:171439
HP:0011968	Feeding difficulties	390594	KBTBD13	ORPHA:171439
HP:0011968	Feeding difficulties	50628	GEMIN4	OMIM:617913
HP:0011968	Feeding difficulties	55681	SCYL2	ORPHA:1143
HP:0011968	Feeding difficulties	84570	COL25A1	ORPHA:1143
HP:0011968	Feeding difficulties	57222	ERGIC1	ORPHA:1143
HP:0011968	Feeding difficulties	5195	PEX14	OMIM:614887
HP:0011968	Feeding difficulties	1487	CTBP1	OMIM:617915
HP:0011968	Feeding difficulties	84978	FRMD5	OMIM:620094
HP:0011968	Feeding difficulties	9775	EIF4A3	OMIM:268305
HP:0011968	Feeding difficulties	667	DST	OMIM:614653
HP:0011968	Feeding difficulties	10243	GPHN	OMIM:615501
HP:0011968	Feeding difficulties	57017	COQ9	OMIM:614654
HP:0011968	Feeding difficulties	80199	FUZ	ORPHA:1136
HP:0011968	Feeding difficulties	284119	CAVIN1	OMIM:613327
HP:0011968	Feeding difficulties	63895	PIEZO2	ORPHA:2461
HP:0011968	Feeding difficulties	100151683	RNU4ATAC	OMIM:210710
HP:0011968	Feeding difficulties	29926	GMPPA	OMIM:615510
HP:0011968	Feeding difficulties	113179	ADAT3	ORPHA:363528
HP:0011968	Feeding difficulties	10157	AASS	ORPHA:2203
HP:0011968	Feeding difficulties	3033	HADH	OMIM:609975
HP:0011968	Feeding difficulties	2720	GLB1	ORPHA:79255
HP:0011968	Feeding difficulties	2592	GALT	ORPHA:79239
HP:0011968	Feeding difficulties	9512	PMPCB	OMIM:617954
HP:0011968	Feeding difficulties	10352	WARS2	OMIM:617710
HP:0011968	Feeding difficulties	7080	NKX2-1	ORPHA:95713
HP:0011968	Feeding difficulties	7849	PAX8	ORPHA:95713
HP:0011968	Feeding difficulties	1482	NKX2-5	ORPHA:95713
HP:0011968	Feeding difficulties	2304	FOXE1	ORPHA:95713
HP:0011968	Feeding difficulties	7253	TSHR	ORPHA:95713
HP:0011968	Feeding difficulties	5172	SLC26A4	ORPHA:95713
HP:0011968	Feeding difficulties	2058	EPRS1	OMIM:617951
HP:0011968	Feeding difficulties	5718	PSMD12	ORPHA:529962
HP:0011968	Feeding difficulties	5718	PSMD12	OMIM:617516
HP:0011968	Feeding difficulties	2186	BPTF	ORPHA:529962
HP:0011968	Feeding difficulties	54664	TMEM106B	OMIM:617964
HP:0011968	Feeding difficulties	2475	MTOR	OMIM:616638
HP:0011968	Feeding difficulties	2584	GALK1	ORPHA:79237
HP:0011968	Feeding difficulties	112858	TP53RK	OMIM:617730
HP:0011968	Feeding difficulties	11019	LIAS	OMIM:614462
HP:0011968	Feeding difficulties	51501	HIKESHI	OMIM:616881
HP:0011968	Feeding difficulties	10815	CPLX1	OMIM:617976
HP:0011968	Feeding difficulties	3747	KCNC2	OMIM:619913
HP:0011968	Feeding difficulties	29957	SLC25A24	OMIM:612289
HP:0011968	Feeding difficulties	3704	ITPA	OMIM:616647
HP:0011968	Feeding difficulties	4929	NR4A2	OMIM:619911
HP:0011968	Feeding difficulties	6925	TCF4	ORPHA:2896
HP:0011968	Feeding difficulties	26047	CNTNAP2	ORPHA:163681
HP:0011968	Feeding difficulties	51124	IER3IP1	OMIM:614231
HP:0011968	Feeding difficulties	54870	QRICH1	OMIM:617982
HP:0011968	Feeding difficulties	4780	NFE2L2	OMIM:617744
HP:0011968	Feeding difficulties	55704	CCDC88A	OMIM:617507
HP:0011968	Feeding difficulties	5500	PPP1CB	OMIM:617506
HP:0011968	Feeding difficulties	55164	SHQ1	OMIM:619922
HP:0011968	Feeding difficulties	4841	NONO	ORPHA:466791
HP:0011968	Feeding difficulties	95	ACY1	OMIM:609924
HP:0011968	Feeding difficulties	23545	ATP6V0A2	ORPHA:357074
HP:0011968	Feeding difficulties	529	ATP6V1E1	ORPHA:357074
HP:0011968	Feeding difficulties	440	ASNS	OMIM:615574
HP:0011968	Feeding difficulties	55023	PHIP	OMIM:617991
HP:0011968	Feeding difficulties	200205	IBA57	OMIM:615330
HP:0011968	Feeding difficulties	738	VPS51	OMIM:618606
HP:0011968	Feeding difficulties	2890	GRIA1	OMIM:619931
HP:0011968	Feeding difficulties	25974	MMACHC	ORPHA:79282
HP:0011968	Feeding difficulties	9439	MED23	OMIM:614249
HP:0011968	Feeding difficulties	5430	POLR2A	OMIM:618603
HP:0011968	Feeding difficulties	1585	CYP11B2	ORPHA:556030
HP:0011968	Feeding difficulties	9244	CRLF1	ORPHA:1545
HP:0011968	Feeding difficulties	37	ACADVL	ORPHA:26793
HP:0011968	Feeding difficulties	18	ABAT	OMIM:613163
HP:0011968	Feeding difficulties	92935	MARS2	OMIM:616430
HP:0011968	Feeding difficulties	79587	CARS2	OMIM:616672
HP:0011968	Feeding difficulties	4858	NOVA2	OMIM:618859
HP:0011968	Feeding difficulties	25871	NEPRO	OMIM:618853
HP:0011968	Feeding difficulties	1497	CTNS	ORPHA:411634
HP:0011968	Feeding difficulties	58499	ZNF462	OMIM:618619
HP:0011968	Feeding difficulties	9990	SLC12A6	OMIM:218000
HP:0011968	Feeding difficulties	2019	EN1	OMIM:619218
HP:0011968	Feeding difficulties	25828	TXN2	ORPHA:478029
HP:0011968	Feeding difficulties	126792	B3GALT6	OMIM:609465
HP:0011968	Feeding difficulties	5700	PSMC1	OMIM:620071
HP:0011968	Feeding difficulties	10043	TOM1	OMIM:619510
HP:0011968	Feeding difficulties	9578	CDC42BPB	OMIM:619841
HP:0011968	Feeding difficulties	8565	YARS1	OMIM:619418
HP:0011968	Feeding difficulties	56479	KCNQ5	OMIM:617601
HP:0011968	Feeding difficulties	2799	GNS	OMIM:252940
HP:0011968	Feeding difficulties	6809	STX3	OMIM:619445
HP:0011968	Feeding difficulties	7809	BSND	ORPHA:89938
HP:0011968	Feeding difficulties	1188	CLCNKB	ORPHA:89938
HP:0011968	Feeding difficulties	1187	CLCNKA	ORPHA:89938
HP:0011968	Feeding difficulties	85365	ALG2	OMIM:607906
HP:0011968	Feeding difficulties	215	ABCD1	ORPHA:139396
HP:0011968	Feeding difficulties	55037	PTCD3	OMIM:619057
HP:0011968	Feeding difficulties	50943	FOXP3	ORPHA:37042
HP:0011968	Feeding difficulties	378884	NHLRC1	ORPHA:501
HP:0011968	Feeding difficulties	7957	EPM2A	ORPHA:501
HP:0011968	Feeding difficulties	5293	PIK3CD	ORPHA:221139
HP:0011968	Feeding difficulties	90417	KNSTRN	ORPHA:221139
HP:0011968	Feeding difficulties	5354	PLP1	ORPHA:280210
HP:0011968	Feeding difficulties	197322	ACSF3	ORPHA:289504
HP:0011968	Feeding difficulties	57520	HECW2	OMIM:617268
HP:0011968	Feeding difficulties	10847	SRCAP	ORPHA:2044
HP:0011968	Feeding difficulties	7841	MOGS	ORPHA:79330
HP:0011968	Feeding difficulties	1288	COL4A6	ORPHA:1018
HP:0011968	Feeding difficulties	1287	COL4A5	ORPHA:1018
HP:0011968	Feeding difficulties	64682	ANAPC1	ORPHA:221008
HP:0011969	Elevated circulating luteinizing hormone level	2245	FGD1	OMIM:305400
HP:0011969	Elevated circulating luteinizing hormone level	286053	NSMCE2	OMIM:617253
HP:0011969	Elevated circulating luteinizing hormone level	1730	DIAPH2	OMIM:300511
HP:0011969	Elevated circulating luteinizing hormone level	402381	SOHLH1	OMIM:617690
HP:0011969	Elevated circulating luteinizing hormone level	57697	FANCM	OMIM:618086
HP:0011969	Elevated circulating luteinizing hormone level	2100	ESR2	OMIM:618187
HP:0011969	Elevated circulating luteinizing hormone level	29893	PSMC3IP	OMIM:614324
HP:0011969	Elevated circulating luteinizing hormone level	4438	MSH4	OMIM:619938
HP:0011969	Elevated circulating luteinizing hormone level	1583	CYP11A1	ORPHA:168558
HP:0011969	Elevated circulating luteinizing hormone level	1583	CYP11A1	ORPHA:289548
HP:0011969	Elevated circulating luteinizing hormone level	8192	CLPP	OMIM:614129
HP:0011969	Elevated circulating luteinizing hormone level	84515	MCM8	OMIM:612885
HP:0011969	Elevated circulating luteinizing hormone level	57647	DHX37	OMIM:273250
HP:0011969	Elevated circulating luteinizing hormone level	57647	DHX37	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	OMIM:612964
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	OMIM:612965
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	125150	ZSWIM7	OMIM:619834
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	OMIM:400044
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	OMIM:400045
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	1528	CYB5A	OMIM:250790
HP:0011969	Elevated circulating luteinizing hormone level	1528	CYB5A	ORPHA:90796
HP:0011969	Elevated circulating luteinizing hormone level	658	BMPR1B	OMIM:609441
HP:0011969	Elevated circulating luteinizing hormone level	5447	POR	ORPHA:95699
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	OMIM:300068
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	ORPHA:90797
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	ORPHA:99429
HP:0011969	Elevated circulating luteinizing hormone level	93953	GCNA	OMIM:301077
HP:0011969	Elevated circulating luteinizing hormone level	7516	XRCC2	OMIM:619146
HP:0011969	Elevated circulating luteinizing hormone level	2661	GDF9	OMIM:618014
HP:0011969	Elevated circulating luteinizing hormone level	317761	C14orf39	OMIM:619203
HP:0011969	Elevated circulating luteinizing hormone level	23514	SPIDR	OMIM:619665
HP:0011969	Elevated circulating luteinizing hormone level	1586	CYP17A1	ORPHA:90796
HP:0011969	Elevated circulating luteinizing hormone level	1586	CYP17A1	ORPHA:90793
HP:0011969	Elevated circulating luteinizing hormone level	55012	PPP2R3C	OMIM:618419
HP:0011969	Elevated circulating luteinizing hormone level	344018	FIGLA	OMIM:612310
HP:0011969	Elevated circulating luteinizing hormone level	164045	HFM1	OMIM:615724
HP:0011969	Elevated circulating luteinizing hormone level	84634	KISS1R	OMIM:176400
HP:0011969	Elevated circulating luteinizing hormone level	56945	MRPS22	OMIM:618117
HP:0011969	Elevated circulating luteinizing hormone level	6662	SOX9	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	6845	VAMP7	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	51741	WWOX	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	4214	MAP3K1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	7490	WT1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	58524	DMRT3	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	23414	ZFPM2	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	190	NR0B1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	2626	GATA4	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	10734	STAG3	OMIM:615723
HP:0011969	Elevated circulating luteinizing hormone level	2488	FSHB	OMIM:229070
HP:0011969	Elevated circulating luteinizing hormone level	668	FOXL2	ORPHA:572333
HP:0011966	Elevated plasma citrulline	10165	SLC25A13	OMIM:605814
HP:0011966	Elevated plasma citrulline	10165	SLC25A13	ORPHA:247585
HP:0011966	Elevated plasma citrulline	10165	SLC25A13	ORPHA:247598
HP:0011966	Elevated plasma citrulline	10165	SLC25A13	OMIM:603471
HP:0011966	Elevated plasma citrulline	9056	SLC7A7	ORPHA:470
HP:0011966	Elevated plasma citrulline	445	ASS1	OMIM:215700
HP:0011966	Elevated plasma citrulline	10157	AASS	ORPHA:3124
HP:0011967	Decreased circulating copper concentration	1356	CP	ORPHA:48818
HP:0011967	Decreased circulating copper concentration	164656	TMPRSS6	ORPHA:209981
HP:0011967	Decreased circulating copper concentration	22796	COG2	ORPHA:435934
HP:0011967	Decreased circulating copper concentration	22796	COG2	OMIM:617395
HP:0011967	Decreased circulating copper concentration	538	ATP7A	OMIM:304150
HP:0011967	Decreased circulating copper concentration	162	AP1B1	ORPHA:171851
HP:0011967	Decreased circulating copper concentration	162	AP1B1	OMIM:242150
HP:0011967	Decreased circulating copper concentration	1174	AP1S1	ORPHA:171851
HP:0011967	Decreased circulating copper concentration	537	ATP6AP1	OMIM:300972
HP:0011967	Decreased circulating copper concentration	9197	SLC33A1	OMIM:614482
HP:0011960	Substantia nigra gliosis	120892	LRRK2	OMIM:607060
HP:0011960	Substantia nigra gliosis	5071	PRKN	OMIM:600116
HP:0011960	Substantia nigra gliosis	4287	ATXN3	ORPHA:276238
HP:0011960	Substantia nigra gliosis	4287	ATXN3	ORPHA:276244
HP:0011960	Substantia nigra gliosis	4287	ATXN3	ORPHA:276241
HP:0011960	Substantia nigra gliosis	2747	GLUD2	OMIM:168600
HP:0011960	Substantia nigra gliosis	126	ADH1C	OMIM:168600
HP:0011960	Substantia nigra gliosis	4137	MAPT	OMIM:168600
HP:0011960	Substantia nigra gliosis	2629	GBA1	OMIM:168600
HP:0011960	Substantia nigra gliosis	4929	NR4A2	OMIM:168600
HP:0011960	Substantia nigra gliosis	6908	TBP	OMIM:168600
HP:0011960	Substantia nigra gliosis	4576	MT-TT	OMIM:168600
HP:0011960	Substantia nigra gliosis	9627	SNCAIP	OMIM:168600
HP:0011960	Substantia nigra gliosis	6311	ATXN2	OMIM:168600
HP:0011960	Substantia nigra gliosis	6315	ATXN8OS	OMIM:168600
HP:0011960	Substantia nigra gliosis	25793	FBXO7	ORPHA:171695
HP:0011960	Substantia nigra gliosis	6622	SNCA	ORPHA:171695
HP:0011961	Non-obstructive azoospermia	340719	NANOS1	ORPHA:399808
HP:0011961	Non-obstructive azoospermia	340719	NANOS1	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	2260	FGFR1	ORPHA:432
HP:0011961	Non-obstructive azoospermia	81848	SPRY4	ORPHA:432
HP:0011961	Non-obstructive azoospermia	128674	PROKR2	ORPHA:432
HP:0011961	Non-obstructive azoospermia	2253	FGF8	ORPHA:432
HP:0011961	Non-obstructive azoospermia	60675	PROK2	ORPHA:432
HP:0011961	Non-obstructive azoospermia	55636	CHD7	ORPHA:432
HP:0011961	Non-obstructive azoospermia	6870	TACR3	ORPHA:432
HP:0011961	Non-obstructive azoospermia	1848	DUSP6	ORPHA:432
HP:0011961	Non-obstructive azoospermia	26012	NSMF	ORPHA:432
HP:0011961	Non-obstructive azoospermia	55717	WDR11	ORPHA:432
HP:0011961	Non-obstructive azoospermia	9394	HS6ST1	ORPHA:432
HP:0011961	Non-obstructive azoospermia	2796	GNRH1	ORPHA:432
HP:0011961	Non-obstructive azoospermia	2798	GNRHR	ORPHA:432
HP:0011961	Non-obstructive azoospermia	84634	KISS1R	ORPHA:432
HP:0011961	Non-obstructive azoospermia	6866	TAC3	ORPHA:432
HP:0011961	Non-obstructive azoospermia	8822	FGF17	ORPHA:432
HP:0011961	Non-obstructive azoospermia	3814	KISS1	ORPHA:432
HP:0011961	Non-obstructive azoospermia	6691	SPINK2	OMIM:618091
HP:0011961	Non-obstructive azoospermia	402381	SOHLH1	OMIM:618115
HP:0011961	Non-obstructive azoospermia	402381	SOHLH1	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	125150	ZSWIM7	OMIM:619831
HP:0011961	Non-obstructive azoospermia	57697	FANCM	OMIM:618086
HP:0011961	Non-obstructive azoospermia	57697	FANCM	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	56154	TEX15	OMIM:617960
HP:0011961	Non-obstructive azoospermia	56154	TEX15	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	10734	STAG3	OMIM:619672
HP:0011961	Non-obstructive azoospermia	285498	RNF212	OMIM:619673
HP:0011961	Non-obstructive azoospermia	154197	PNLDC1	OMIM:619528
HP:0011961	Non-obstructive azoospermia	154197	PNLDC1	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	4439	MSH5	OMIM:619937
HP:0011961	Non-obstructive azoospermia	93426	SYCE1	OMIM:616950
HP:0011961	Non-obstructive azoospermia	93426	SYCE1	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	158401	SHOC1	OMIM:619949
HP:0011961	Non-obstructive azoospermia	145645	TERB2	OMIM:619645
HP:0011961	Non-obstructive azoospermia	283847	TERB1	OMIM:619646
HP:0011961	Non-obstructive azoospermia	54456	MOV10L1	OMIM:619878
HP:0011961	Non-obstructive azoospermia	254528	MEIOB	OMIM:617706
HP:0011961	Non-obstructive azoospermia	254528	MEIOB	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	6875	TAF4B	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	56155	TEX14	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	7516	XRCC2	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	91057	CCDC34	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	2516	NR5A1	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	317719	KLHL10	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	56159	TEX11	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	1080	CFTR	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	84225	ZMYND15	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	122402	TDRD9	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	50511	SYCP3	ORPHA:399805
HP:0011961	Non-obstructive azoospermia	4438	MSH4	OMIM:108420
HP:0011961	Non-obstructive azoospermia	7258	TSPY1	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	57055	DAZ2	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	57135	DAZ4	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	8287	USP9Y	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	5940	RBMY1A1	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	57054	DAZ3	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	8653	DDX3Y	ORPHA:1646
HP:0011961	Non-obstructive azoospermia	1617	DAZ1	ORPHA:1646
HP:0011962	Obstructive azoospermia	10149	ADGRG2	ORPHA:48
HP:0011962	Obstructive azoospermia	1080	CFTR	ORPHA:48
HP:0011962	Obstructive azoospermia	1080	CFTR	ORPHA:399805
HP:0011962	Obstructive azoospermia	9075	CLDN2	OMIM:301060
HP:0011962	Obstructive azoospermia	56154	TEX15	ORPHA:399805
HP:0011962	Obstructive azoospermia	6875	TAF4B	ORPHA:399805
HP:0011962	Obstructive azoospermia	56155	TEX14	ORPHA:399805
HP:0011962	Obstructive azoospermia	7516	XRCC2	ORPHA:399805
HP:0011962	Obstructive azoospermia	254528	MEIOB	ORPHA:399805
HP:0011962	Obstructive azoospermia	91057	CCDC34	ORPHA:399805
HP:0011962	Obstructive azoospermia	2516	NR5A1	ORPHA:399805
HP:0011962	Obstructive azoospermia	402381	SOHLH1	ORPHA:399805
HP:0011962	Obstructive azoospermia	317719	KLHL10	ORPHA:399805
HP:0011962	Obstructive azoospermia	56159	TEX11	ORPHA:399805
HP:0011962	Obstructive azoospermia	57697	FANCM	ORPHA:399805
HP:0011962	Obstructive azoospermia	84225	ZMYND15	ORPHA:399805
HP:0011962	Obstructive azoospermia	122402	TDRD9	ORPHA:399805
HP:0011962	Obstructive azoospermia	154197	PNLDC1	ORPHA:399805
HP:0011962	Obstructive azoospermia	93426	SYCE1	ORPHA:399805
HP:0011962	Obstructive azoospermia	340719	NANOS1	ORPHA:399805
HP:0011962	Obstructive azoospermia	50511	SYCP3	ORPHA:399805
HP:0001750	Single ventricle	7547	ZIC3	OMIM:306955
HP:0001750	Single ventricle	2657	GDF1	OMIM:208530
HP:0001750	Single ventricle	2657	GDF1	OMIM:613854
HP:0001750	Single ventricle	50814	NSDHL	OMIM:308050
HP:0001750	Single ventricle	100128908	CIROP	OMIM:619702
HP:0001750	Single ventricle	79770	TXNDC15	OMIM:619879
HP:0001750	Single ventricle	4838	NODAL	OMIM:270100
HP:0001750	Single ventricle	6496	SIX3	OMIM:157170
HP:0001750	Single ventricle	64220	STRA6	OMIM:601186
HP:0001750	Single ventricle	5337	PLD1	OMIM:212093
HP:0001750	Single ventricle	8550	MAPKAPK5	OMIM:619869
HP:0000356	Abnormality of the outer ear	23126	POGZ	OMIM:616364
HP:0000356	Abnormality of the outer ear	23126	POGZ	ORPHA:468678
HP:0000356	Abnormality of the outer ear	10743	RAI1	OMIM:182290
HP:0000356	Abnormality of the outer ear	4659	PPP1R12A	OMIM:618820
HP:0000356	Abnormality of the outer ear	23314	SATB2	ORPHA:251028
HP:0000356	Abnormality of the outer ear	81620	CDT1	ORPHA:2554
HP:0000356	Abnormality of the outer ear	5000	ORC4	ORPHA:2554
HP:0000356	Abnormality of the outer ear	23594	ORC6	ORPHA:2554
HP:0000356	Abnormality of the outer ear	8318	CDC45	ORPHA:2554
HP:0000356	Abnormality of the outer ear	990	CDC6	ORPHA:2554
HP:0000356	Abnormality of the outer ear	4998	ORC1	ORPHA:2554
HP:0000356	Abnormality of the outer ear	51053	GMNN	ORPHA:2554
HP:0000356	Abnormality of the outer ear	26123	TCTN3	ORPHA:2753
HP:0000356	Abnormality of the outer ear	2887	GRB10	ORPHA:96182
HP:0000356	Abnormality of the outer ear	25942	SIN3A	ORPHA:94065
HP:0000356	Abnormality of the outer ear	6495	SIX1	ORPHA:52429
HP:0000356	Abnormality of the outer ear	8621	CDK13	OMIM:617360
HP:0000356	Abnormality of the outer ear	6595	SMARCA2	ORPHA:2728
HP:0000356	Abnormality of the outer ear	2132	EXT2	ORPHA:466926
HP:0000356	Abnormality of the outer ear	9487	PIGL	ORPHA:3474
HP:0000356	Abnormality of the outer ear	26040	SETBP1	ORPHA:798
HP:0000356	Abnormality of the outer ear	2187	FANCB	ORPHA:3412
HP:0000356	Abnormality of the outer ear	134218	DNAJC21	ORPHA:811
HP:0000356	Abnormality of the outer ear	79631	EFL1	ORPHA:811
HP:0000356	Abnormality of the outer ear	51119	SBDS	ORPHA:811
HP:0000356	Abnormality of the outer ear	6729	SRP54	ORPHA:811
HP:0000356	Abnormality of the outer ear	7528	YY1	ORPHA:506358
HP:0000356	Abnormality of the outer ear	7528	YY1	OMIM:617557
HP:0000356	Abnormality of the outer ear	8036	SHOC2	OMIM:607721
HP:0000356	Abnormality of the outer ear	10262	SF3B4	OMIM:154400
HP:0000356	Abnormality of the outer ear	8294	H4C9	OMIM:619951
HP:0000356	Abnormality of the outer ear	9853	RUSC2	OMIM:617773
HP:0000356	Abnormality of the outer ear	6659	SOX4	OMIM:618506
HP:0000356	Abnormality of the outer ear	161742	SPRED1	OMIM:611431
HP:0000356	Abnormality of the outer ear	51126	NAA20	OMIM:619717
HP:0000356	Abnormality of the outer ear	673	BRAF	OMIM:115150
HP:0000356	Abnormality of the outer ear	673	BRAF	OMIM:613707
HP:0000356	Abnormality of the outer ear	55627	SMPD4	OMIM:618622
HP:0000356	Abnormality of the outer ear	4897	NRCAM	OMIM:619833
HP:0000356	Abnormality of the outer ear	4784	NFIX	ORPHA:447980
HP:0000356	Abnormality of the outer ear	4281	MID1	OMIM:300000
HP:0000356	Abnormality of the outer ear	4281	MID1	ORPHA:2745
HP:0000356	Abnormality of the outer ear	374654	KIF7	OMIM:200990
HP:0000356	Abnormality of the outer ear	3020	H3-3A	OMIM:619720
HP:0000356	Abnormality of the outer ear	80816	ASXL3	OMIM:615485
HP:0000356	Abnormality of the outer ear	129563	DIS3L2	ORPHA:2849
HP:0000356	Abnormality of the outer ear	4286	MITF	OMIM:617306
HP:0000356	Abnormality of the outer ear	10225	CD96	OMIM:211750
HP:0000356	Abnormality of the outer ear	9382	COG1	OMIM:611209
HP:0000356	Abnormality of the outer ear	5189	PEX1	OMIM:214100
HP:0000356	Abnormality of the outer ear	55650	PIGV	OMIM:239300
HP:0000356	Abnormality of the outer ear	2590	GALNT2	OMIM:618885
HP:0000356	Abnormality of the outer ear	57492	ARID1B	OMIM:135900
HP:0000356	Abnormality of the outer ear	64324	NSD1	OMIM:117550
HP:0000356	Abnormality of the outer ear	80204	FBXO11	OMIM:618089
HP:0000356	Abnormality of the outer ear	5119	CHMP1A	OMIM:614961
HP:0000356	Abnormality of the outer ear	1889	ECE1	OMIM:613870
HP:0000356	Abnormality of the outer ear	64359	NXN	OMIM:618529
HP:0000356	Abnormality of the outer ear	23184	MESD	OMIM:618644
HP:0000356	Abnormality of the outer ear	55858	TMEM165	OMIM:614727
HP:0000356	Abnormality of the outer ear	8546	AP3B1	OMIM:608233
HP:0000356	Abnormality of the outer ear	3339	HSPG2	ORPHA:1865
HP:0000356	Abnormality of the outer ear	3339	HSPG2	OMIM:224410
HP:0000356	Abnormality of the outer ear	7020	TFAP2A	OMIM:113620
HP:0000356	Abnormality of the outer ear	1717	DHCR7	OMIM:270400
HP:0000356	Abnormality of the outer ear	23116	TOGARAM1	OMIM:619185
HP:0000356	Abnormality of the outer ear	9401	RECQL4	OMIM:218600
HP:0000356	Abnormality of the outer ear	9839	ZEB2	ORPHA:261552
HP:0000356	Abnormality of the outer ear	9839	ZEB2	ORPHA:261537
HP:0000356	Abnormality of the outer ear	652	BMP4	OMIM:607932
HP:0000356	Abnormality of the outer ear	4330	MN1	OMIM:618774
HP:0000356	Abnormality of the outer ear	6885	MAP3K7	OMIM:157800
HP:0000356	Abnormality of the outer ear	55012	PPP2R3C	OMIM:618419
HP:0000356	Abnormality of the outer ear	1954	MEGF8	OMIM:614976
HP:0000356	Abnormality of the outer ear	4598	MVK	OMIM:610377
HP:0000356	Abnormality of the outer ear	200734	SPRED2	OMIM:619745
HP:0000356	Abnormality of the outer ear	4036	LRP2	ORPHA:2143
HP:0000356	Abnormality of the outer ear	4036	LRP2	OMIM:222448
HP:0000356	Abnormality of the outer ear	26005	C2CD3	OMIM:615948
HP:0000356	Abnormality of the outer ear	3265	HRAS	OMIM:218040
HP:0000356	Abnormality of the outer ear	6234	RPS28	OMIM:606164
HP:0000356	Abnormality of the outer ear	9653	HS2ST1	OMIM:619194
HP:0000356	Abnormality of the outer ear	253738	EBF3	OMIM:617330
HP:0000356	Abnormality of the outer ear	8493	PPM1D	OMIM:617450
HP:0000356	Abnormality of the outer ear	26038	CHD5	OMIM:619873
HP:0000356	Abnormality of the outer ear	1182	CLCN3	OMIM:619512
HP:0000356	Abnormality of the outer ear	4593	MUSK	OMIM:208150
HP:0000356	Abnormality of the outer ear	4593	MUSK	ORPHA:994
HP:0000356	Abnormality of the outer ear	29081	METTL5	OMIM:618665
HP:0000356	Abnormality of the outer ear	6905	TBCE	OMIM:241410
HP:0000356	Abnormality of the outer ear	57680	CHD8	OMIM:615032
HP:0000356	Abnormality of the outer ear	8558	CDK10	OMIM:617694
HP:0000356	Abnormality of the outer ear	3572	IL6ST	OMIM:619750
HP:0000356	Abnormality of the outer ear	56006	SMG9	OMIM:616920
HP:0000356	Abnormality of the outer ear	1857	DVL3	ORPHA:3107
HP:0000356	Abnormality of the outer ear	7474	WNT5A	ORPHA:3107
HP:0000356	Abnormality of the outer ear	7474	WNT5A	OMIM:180700
HP:0000356	Abnormality of the outer ear	1855	DVL1	ORPHA:3107
HP:0000356	Abnormality of the outer ear	1855	DVL1	OMIM:180700
HP:0000356	Abnormality of the outer ear	2535	FZD2	ORPHA:3107
HP:0000356	Abnormality of the outer ear	2535	FZD2	OMIM:164745
HP:0000356	Abnormality of the outer ear	3845	KRAS	OMIM:615278
HP:0000356	Abnormality of the outer ear	3845	KRAS	OMIM:609942
HP:0000356	Abnormality of the outer ear	6660	SOX5	OMIM:616803
HP:0000356	Abnormality of the outer ear	285175	UNC80	OMIM:616801
HP:0000356	Abnormality of the outer ear	3211	HOXB1	OMIM:614744
HP:0000356	Abnormality of the outer ear	54499	TMCO1	OMIM:213980
HP:0000356	Abnormality of the outer ear	11128	POLR3A	OMIM:264090
HP:0000356	Abnormality of the outer ear	11128	POLR3A	ORPHA:3455
HP:0000356	Abnormality of the outer ear	4094	MAF	ORPHA:1272
HP:0000356	Abnormality of the outer ear	4094	MAF	OMIM:601088
HP:0000356	Abnormality of the outer ear	7750	ZMYM2	OMIM:619522
HP:0000356	Abnormality of the outer ear	6942	TCF20	OMIM:618430
HP:0000356	Abnormality of the outer ear	55670	PEX26	OMIM:614872
HP:0000356	Abnormality of the outer ear	23261	CAMTA1	OMIM:614756
HP:0000356	Abnormality of the outer ear	4763	NF1	OMIM:193520
HP:0000356	Abnormality of the outer ear	4763	NF1	OMIM:601321
HP:0000356	Abnormality of the outer ear	9772	TMEM94	OMIM:618316
HP:0000356	Abnormality of the outer ear	388015	RTL1	ORPHA:96334
HP:0000356	Abnormality of the outer ear	8788	DLK1	ORPHA:96334
HP:0000356	Abnormality of the outer ear	55384	MEG3	ORPHA:96334
HP:0000356	Abnormality of the outer ear	6231	RPS26	OMIM:613309
HP:0000356	Abnormality of the outer ear	2316	FLNA	OMIM:304120
HP:0000356	Abnormality of the outer ear	56975	FAM20C	ORPHA:1832
HP:0000356	Abnormality of the outer ear	56975	FAM20C	OMIM:259775
HP:0000356	Abnormality of the outer ear	55691	FRMD4A	OMIM:616819
HP:0000356	Abnormality of the outer ear	4920	ROR2	OMIM:268310
HP:0000356	Abnormality of the outer ear	51322	WAC	ORPHA:284169
HP:0000356	Abnormality of the outer ear	51322	WAC	OMIM:616708
HP:0000356	Abnormality of the outer ear	51322	WAC	ORPHA:466950
HP:0000356	Abnormality of the outer ear	4621	MYH3	OMIM:178110
HP:0000356	Abnormality of the outer ear	7030	TFE3	OMIM:301066
HP:0000356	Abnormality of the outer ear	6603	SMARCD2	OMIM:617475
HP:0000356	Abnormality of the outer ear	546	ATRX	OMIM:309580
HP:0000356	Abnormality of the outer ear	546	ATRX	OMIM:301040
HP:0000356	Abnormality of the outer ear	64919	BCL11B	OMIM:617237
HP:0000356	Abnormality of the outer ear	7994	KAT6A	OMIM:616268
HP:0000356	Abnormality of the outer ear	4087	SMAD2	OMIM:619657
HP:0000356	Abnormality of the outer ear	701	BUB1B	OMIM:257300
HP:0000356	Abnormality of the outer ear	157570	ESCO2	OMIM:268300
HP:0000356	Abnormality of the outer ear	171023	ASXL1	OMIM:605039
HP:0000356	Abnormality of the outer ear	8295	TRRAP	OMIM:618454
HP:0000356	Abnormality of the outer ear	9742	IFT140	OMIM:266920
HP:0000356	Abnormality of the outer ear	5781	PTPN11	OMIM:151100
HP:0000356	Abnormality of the outer ear	29123	ANKRD11	OMIM:148050
HP:0000356	Abnormality of the outer ear	2033	EP300	OMIM:613684
HP:0000356	Abnormality of the outer ear	867	CBL	OMIM:613563
HP:0000356	Abnormality of the outer ear	22907	DHX30	OMIM:617804
HP:0000356	Abnormality of the outer ear	5426	POLE	OMIM:618336
HP:0000356	Abnormality of the outer ear	5081	PAX7	OMIM:618578
HP:0000356	Abnormality of the outer ear	10664	CTCF	OMIM:615502
HP:0000356	Abnormality of the outer ear	2200	FBN1	ORPHA:2462
HP:0000356	Abnormality of the outer ear	6497	SKI	ORPHA:2462
HP:0000356	Abnormality of the outer ear	6497	SKI	OMIM:182212
HP:0000356	Abnormality of the outer ear	164	AP1G1	OMIM:619548
HP:0000356	Abnormality of the outer ear	6664	SOX11	OMIM:615866
HP:0000356	Abnormality of the outer ear	63895	PIEZO2	ORPHA:2461
HP:0000356	Abnormality of the outer ear	196528	ARID2	OMIM:617808
HP:0000356	Abnormality of the outer ear	8216	LZTR1	OMIM:605275
HP:0000356	Abnormality of the outer ear	6654	SOS1	OMIM:610733
HP:0000356	Abnormality of the outer ear	10075	HUWE1	OMIM:309590
HP:0000356	Abnormality of the outer ear	2879	GPX4	OMIM:250220
HP:0000356	Abnormality of the outer ear	9488	PIGB	OMIM:618580
HP:0000356	Abnormality of the outer ear	84706	GPT2	OMIM:616281
HP:0000356	Abnormality of the outer ear	55906	ZC4H2	OMIM:301041
HP:0000356	Abnormality of the outer ear	8504	PEX3	OMIM:617370
HP:0000356	Abnormality of the outer ear	8243	SMC1A	OMIM:301044
HP:0000356	Abnormality of the outer ear	8925	HERC1	OMIM:617011
HP:0000356	Abnormality of the outer ear	5898	RALA	OMIM:619311
HP:0000356	Abnormality of the outer ear	10466	COG5	ORPHA:263487
HP:0000356	Abnormality of the outer ear	6477	SIAH1	OMIM:619314
HP:0000356	Abnormality of the outer ear	2335	FN1	ORPHA:93315
HP:0000356	Abnormality of the outer ear	1280	COL2A1	ORPHA:93315
HP:0000356	Abnormality of the outer ear	23394	ADNP	OMIM:615873
HP:0000356	Abnormality of the outer ear	8092	ALX1	OMIM:613456
HP:0000356	Abnormality of the outer ear	6418	SET	OMIM:618106
HP:0000356	Abnormality of the outer ear	65062	TMEM237	OMIM:614424
HP:0000356	Abnormality of the outer ear	50814	NSDHL	ORPHA:251383
HP:0000356	Abnormality of the outer ear	50814	NSDHL	OMIM:300831
HP:0000356	Abnormality of the outer ear	55593	OTUD5	OMIM:301056
HP:0000356	Abnormality of the outer ear	56945	MRPS22	OMIM:611719
HP:0000356	Abnormality of the outer ear	128869	PIGU	OMIM:618590
HP:0000356	Abnormality of the outer ear	5575	PRKAR1B	OMIM:619680
HP:0000356	Abnormality of the outer ear	7707	ZNF148	OMIM:617260
HP:0000356	Abnormality of the outer ear	10847	SRCAP	OMIM:136140
HP:0000356	Abnormality of the outer ear	91179	SCARF2	OMIM:600920
HP:0000356	Abnormality of the outer ear	4854	NOTCH3	OMIM:130720
HP:0000356	Abnormality of the outer ear	4854	NOTCH3	ORPHA:2789
HP:0000356	Abnormality of the outer ear	6647	SOD1	OMIM:618598
HP:0000356	Abnormality of the outer ear	29998	BICRA	OMIM:619325
HP:0000356	Abnormality of the outer ear	5859	QARS1	OMIM:615760
HP:0000356	Abnormality of the outer ear	23030	KDM4B	OMIM:619320
HP:0000356	Abnormality of the outer ear	84162	BLTP1	OMIM:617822
HP:0000356	Abnormality of the outer ear	473	RERE	OMIM:616975
HP:0000356	Abnormality of the outer ear	2782	GNB1	OMIM:616973
HP:0000356	Abnormality of the outer ear	998	CDC42	OMIM:616737
HP:0000356	Abnormality of the outer ear	4081	MAB21L1	OMIM:618479
HP:0000356	Abnormality of the outer ear	5831	PYCR1	OMIM:614438
HP:0000356	Abnormality of the outer ear	10982	MAPRE2	OMIM:616734
HP:0000356	Abnormality of the outer ear	176	ACAN	OMIM:612813
HP:0000356	Abnormality of the outer ear	176	ACAN	ORPHA:171866
HP:0000356	Abnormality of the outer ear	2067	ERCC1	OMIM:610758
HP:0000356	Abnormality of the outer ear	9126	SMC3	OMIM:610759
HP:0000356	Abnormality of the outer ear	4131	MAP1B	OMIM:618918
HP:0000356	Abnormality of the outer ear	84892	POMGNT2	ORPHA:899
HP:0000356	Abnormality of the outer ear	148789	B3GALNT2	ORPHA:899
HP:0000356	Abnormality of the outer ear	79147	FKRP	ORPHA:899
HP:0000356	Abnormality of the outer ear	29954	POMT2	ORPHA:899
HP:0000356	Abnormality of the outer ear	9215	LARGE1	ORPHA:899
HP:0000356	Abnormality of the outer ear	1282	COL4A1	ORPHA:899
HP:0000356	Abnormality of the outer ear	729920	CRPPA	ORPHA:899
HP:0000356	Abnormality of the outer ear	10329	RXYLT1	ORPHA:899
HP:0000356	Abnormality of the outer ear	1605	DAG1	ORPHA:899
HP:0000356	Abnormality of the outer ear	11041	B4GAT1	ORPHA:899
HP:0000356	Abnormality of the outer ear	10585	POMT1	ORPHA:899
HP:0000356	Abnormality of the outer ear	84197	POMK	ORPHA:899
HP:0000356	Abnormality of the outer ear	2218	FKTN	ORPHA:899
HP:0000356	Abnormality of the outer ear	55624	POMGNT1	ORPHA:899
HP:0000356	Abnormality of the outer ear	90161	HS6ST2	OMIM:301025
HP:0000356	Abnormality of the outer ear	1009	CDH11	OMIM:211380
HP:0000356	Abnormality of the outer ear	1000	CDH2	OMIM:618929
HP:0000356	Abnormality of the outer ear	63931	MRPS14	OMIM:618378
HP:0000356	Abnormality of the outer ear	22808	MRAS	OMIM:618499
HP:0000356	Abnormality of the outer ear	1822	ATN1	OMIM:618494
HP:0000356	Abnormality of the outer ear	5144	PDE4D	ORPHA:439822
HP:0000356	Abnormality of the outer ear	4613	MYCN	OMIM:164280
HP:0000356	Abnormality of the outer ear	6304	SATB1	OMIM:619229
HP:0000356	Abnormality of the outer ear	139285	AMER1	ORPHA:2780
HP:0000356	Abnormality of the outer ear	139285	AMER1	OMIM:300373
HP:0000356	Abnormality of the outer ear	158326	FREM1	OMIM:608980
HP:0000356	Abnormality of the outer ear	2737	GLI3	OMIM:146510
HP:0000356	Abnormality of the outer ear	4927	NUP88	ORPHA:994
HP:0000356	Abnormality of the outer ear	4927	NUP88	OMIM:618393
HP:0000356	Abnormality of the outer ear	7846	TUBA1A	ORPHA:994
HP:0000356	Abnormality of the outer ear	4654	MYOD1	ORPHA:994
HP:0000356	Abnormality of the outer ear	5913	RAPSN	ORPHA:994
HP:0000356	Abnormality of the outer ear	6572	SLC18A3	ORPHA:994
HP:0000356	Abnormality of the outer ear	285489	DOK7	ORPHA:994
HP:0000356	Abnormality of the outer ear	9851	KIAA0753	OMIM:619476
HP:0000356	Abnormality of the outer ear	9851	KIAA0753	OMIM:619479
HP:0000356	Abnormality of the outer ear	6628	SNRPB	OMIM:117650
HP:0000356	Abnormality of the outer ear	8812	CCNK	OMIM:618147
HP:0000356	Abnormality of the outer ear	65250	CPLANE1	OMIM:277170
HP:0000356	Abnormality of the outer ear	5977	DPF2	OMIM:618027
HP:0000356	Abnormality of the outer ear	10526	IPO8	OMIM:619472
HP:0000356	Abnormality of the outer ear	94005	PIGS	OMIM:618143
HP:0000356	Abnormality of the outer ear	145173	B3GLCT	OMIM:261540
HP:0000356	Abnormality of the outer ear	8929	PHOX2B	OMIM:209880
HP:0000356	Abnormality of the outer ear	29957	SLC25A24	OMIM:612289
HP:0000356	Abnormality of the outer ear	8405	SPOP	OMIM:618829
HP:0000356	Abnormality of the outer ear	11198	SUPT16H	OMIM:619480
HP:0000356	Abnormality of the outer ear	8720	MBTPS1	OMIM:618392
HP:0000356	Abnormality of the outer ear	10682	EBP	OMIM:300960
HP:0000356	Abnormality of the outer ear	113189	CHST14	OMIM:601776
HP:0000356	Abnormality of the outer ear	3636	INPPL1	OMIM:258480
HP:0000356	Abnormality of the outer ear	2222	FDFT1	OMIM:618156
HP:0000356	Abnormality of the outer ear	203068	TUBB	OMIM:156610
HP:0000356	Abnormality of the outer ear	374879	ZNF699	OMIM:619488
HP:0000356	Abnormality of the outer ear	8239	USP9X	OMIM:300968
HP:0000356	Abnormality of the outer ear	114928	GPRASP2	OMIM:301018
HP:0000356	Abnormality of the outer ear	83737	ITCH	OMIM:613385
HP:0000356	Abnormality of the outer ear	28957	MRPS28	OMIM:618958
HP:0000356	Abnormality of the outer ear	5500	PPP1CB	OMIM:617506
HP:0000356	Abnormality of the outer ear	64093	SMOC1	OMIM:206920
HP:0000356	Abnormality of the outer ear	118924	FRA10AC1	OMIM:620113
HP:0000356	Abnormality of the outer ear	2273	FHL1	OMIM:300280
HP:0000356	Abnormality of the outer ear	55252	ASXL2	OMIM:617190
HP:0000356	Abnormality of the outer ear	1376	CPT2	OMIM:608836
HP:0000356	Abnormality of the outer ear	126792	B3GALT6	ORPHA:536467
HP:0000356	Abnormality of the outer ear	650	BMP2	OMIM:617877
HP:0000356	Abnormality of the outer ear	100151683	RNU4ATAC	ORPHA:2636
HP:0000356	Abnormality of the outer ear	8777	MPDZ	OMIM:615219
HP:0000356	Abnormality of the outer ear	170692	ADAMTS18	OMIM:615458
HP:0000356	Abnormality of the outer ear	9757	KMT2B	OMIM:619934
HP:0000356	Abnormality of the outer ear	84081	NSRP1	OMIM:620001
HP:0000356	Abnormality of the outer ear	1302	COL11A2	ORPHA:1427
HP:0000356	Abnormality of the outer ear	11011	TLK2	OMIM:618050
HP:0000356	Abnormality of the outer ear	55181	SMG8	OMIM:619268
HP:0000356	Abnormality of the outer ear	101929726	MYMX	OMIM:619941
HP:0000356	Abnormality of the outer ear	23404	EXOSC2	OMIM:617763
HP:0000356	Abnormality of the outer ear	8665	EIF3F	OMIM:618295
HP:0000356	Abnormality of the outer ear	4921	DDR2	OMIM:618175
HP:0000356	Abnormality of the outer ear	10736	SIX2	ORPHA:488437
HP:0000356	Abnormality of the outer ear	10082	GPC6	ORPHA:93329
HP:0000356	Abnormality of the outer ear	2260	FGFR1	OMIM:615465
HP:0000356	Abnormality of the outer ear	8449	DHX16	OMIM:618733
HP:0000356	Abnormality of the outer ear	9373	PLAA	OMIM:617527
HP:0000356	Abnormality of the outer ear	25886	POC1A	OMIM:614813
HP:0000356	Abnormality of the outer ear	8085	KMT2D	OMIM:147920
HP:0000356	Abnormality of the outer ear	7403	KDM6A	OMIM:147920
HP:0000356	Abnormality of the outer ear	4247	MGAT2	ORPHA:79329
HP:0000356	Abnormality of the outer ear	1718	DHCR24	ORPHA:35107
HP:0000356	Abnormality of the outer ear	613	BCR	ORPHA:261330
HP:0000356	Abnormality of the outer ear	1399	CRKL	ORPHA:261330
HP:0000356	Abnormality of the outer ear	5594	MAPK1	ORPHA:261330
HP:0000356	Abnormality of the outer ear	57061	HYMAI	ORPHA:96191
HP:0000356	Abnormality of the outer ear	5325	PLAGL1	ORPHA:96191
HP:0000356	Abnormality of the outer ear	1836	SLC26A2	ORPHA:93307
HP:0000356	Abnormality of the outer ear	5879	RAC1	ORPHA:500159
HP:0000356	Abnormality of the outer ear	545	ATR	ORPHA:808
HP:0000356	Abnormality of the outer ear	1062	CENPE	ORPHA:808
HP:0000356	Abnormality of the outer ear	5116	PCNT	ORPHA:808
HP:0000356	Abnormality of the outer ear	5932	RBBP8	ORPHA:808
HP:0000356	Abnormality of the outer ear	79902	NUP85	ORPHA:808
HP:0000356	Abnormality of the outer ear	84126	ATRIP	ORPHA:808
HP:0000356	Abnormality of the outer ear	55835	CENPJ	ORPHA:808
HP:0000356	Abnormality of the outer ear	10293	TRAIP	ORPHA:808
HP:0000356	Abnormality of the outer ear	22995	CEP152	ORPHA:808
HP:0000356	Abnormality of the outer ear	10733	PLK4	ORPHA:808
HP:0000356	Abnormality of the outer ear	8450	CUL4B	ORPHA:85293
HP:0000356	Abnormality of the outer ear	54539	NDUFB11	ORPHA:2556
HP:0000356	Abnormality of the outer ear	1349	COX7B	ORPHA:2556
HP:0000356	Abnormality of the outer ear	3052	HCCS	ORPHA:2556
HP:0000356	Abnormality of the outer ear	5447	POR	ORPHA:95699
HP:0000356	Abnormality of the outer ear	27125	AFF4	ORPHA:444077
HP:0000356	Abnormality of the outer ear	7372	UMPS	ORPHA:30
HP:0000356	Abnormality of the outer ear	4867	NPHP1	ORPHA:220497
HP:0000356	Abnormality of the outer ear	4867	NPHP1	ORPHA:110
HP:0000356	Abnormality of the outer ear	72	ACTG2	ORPHA:2604
HP:0000356	Abnormality of the outer ear	55780	ERMARD	ORPHA:75857
HP:0000356	Abnormality of the outer ear	9723	SEMA3E	ORPHA:138
HP:0000356	Abnormality of the outer ear	4952	OCRL	ORPHA:534
HP:0000356	Abnormality of the outer ear	3039	HBA1	ORPHA:98791
HP:0000356	Abnormality of the outer ear	3040	HBA2	ORPHA:98791
HP:0000356	Abnormality of the outer ear	134701	RIPPLY2	ORPHA:2311
HP:0000356	Abnormality of the outer ear	10683	DLL3	ORPHA:2311
HP:0000356	Abnormality of the outer ear	3955	LFNG	ORPHA:2311
HP:0000356	Abnormality of the outer ear	84667	HES7	ORPHA:2311
HP:0000356	Abnormality of the outer ear	145873	MESP2	ORPHA:2311
HP:0000356	Abnormality of the outer ear	51524	TMEM138	ORPHA:2318
HP:0000356	Abnormality of the outer ear	23090	ZNF423	ORPHA:2318
HP:0000356	Abnormality of the outer ear	80184	CEP290	ORPHA:2318
HP:0000356	Abnormality of the outer ear	80184	CEP290	ORPHA:564
HP:0000356	Abnormality of the outer ear	80184	CEP290	ORPHA:110
HP:0000356	Abnormality of the outer ear	57096	RPGRIP1	ORPHA:564
HP:0000356	Abnormality of the outer ear	54872	PIGG	ORPHA:280
HP:0000356	Abnormality of the outer ear	7469	NELFA	ORPHA:280
HP:0000356	Abnormality of the outer ear	9184	BUB3	ORPHA:1052
HP:0000356	Abnormality of the outer ear	699	BUB1	ORPHA:1052
HP:0000356	Abnormality of the outer ear	1501	CTNND2	ORPHA:281
HP:0000356	Abnormality of the outer ear	9037	SEMA5A	ORPHA:281
HP:0000356	Abnormality of the outer ear	10716	TBR1	ORPHA:1617
HP:0000356	Abnormality of the outer ear	2313	FLI1	ORPHA:2308
HP:0000356	Abnormality of the outer ear	92482	BBIP1	ORPHA:110
HP:0000356	Abnormality of the outer ear	11020	IFT27	ORPHA:110
HP:0000356	Abnormality of the outer ear	582	BBS1	ORPHA:110
HP:0000356	Abnormality of the outer ear	49855	SCAPER	ORPHA:110
HP:0000356	Abnormality of the outer ear	51057	WDPCP	ORPHA:110
HP:0000356	Abnormality of the outer ear	27241	BBS9	ORPHA:110
HP:0000356	Abnormality of the outer ear	84984	CEP19	ORPHA:110
HP:0000356	Abnormality of the outer ear	22954	TRIM32	ORPHA:110
HP:0000356	Abnormality of the outer ear	79738	BBS10	ORPHA:110
HP:0000356	Abnormality of the outer ear	123016	TTC8	ORPHA:110
HP:0000356	Abnormality of the outer ear	26160	IFT172	ORPHA:110
HP:0000356	Abnormality of the outer ear	583	BBS2	ORPHA:110
HP:0000356	Abnormality of the outer ear	585	BBS4	ORPHA:110
HP:0000356	Abnormality of the outer ear	8195	MKKS	ORPHA:110
HP:0000356	Abnormality of the outer ear	54585	LZTFL1	ORPHA:110
HP:0000356	Abnormality of the outer ear	55212	BBS7	ORPHA:110
HP:0000356	Abnormality of the outer ear	166379	BBS12	ORPHA:110
HP:0000356	Abnormality of the outer ear	10806	SDCCAG8	ORPHA:110
HP:0000356	Abnormality of the outer ear	157657	CFAP418	ORPHA:110
HP:0000356	Abnormality of the outer ear	84100	ARL6	ORPHA:110
HP:0000356	Abnormality of the outer ear	129880	BBS5	ORPHA:110
HP:0000356	Abnormality of the outer ear	80173	IFT74	ORPHA:110
HP:0000356	Abnormality of the outer ear	10908	PNPLA6	ORPHA:2377
HP:0000356	Abnormality of the outer ear	5590	PRKCZ	ORPHA:1606
HP:0000356	Abnormality of the outer ear	2563	GABRD	ORPHA:1606
HP:0000356	Abnormality of the outer ear	8510	MMP23B	ORPHA:1606
HP:0000356	Abnormality of the outer ear	7798	LUZP1	ORPHA:1606
HP:0000356	Abnormality of the outer ear	10630	PDPN	ORPHA:1606
HP:0000356	Abnormality of the outer ear	10277	UBE4B	ORPHA:1606
HP:0000356	Abnormality of the outer ear	8514	KCNAB2	ORPHA:1606
HP:0000356	Abnormality of the outer ear	63976	PRDM16	ORPHA:1606
HP:0000356	Abnormality of the outer ear	54897	CASZ1	ORPHA:1606
HP:0000356	Abnormality of the outer ear	25914	RTTN	ORPHA:468631
HP:0000356	Abnormality of the outer ear	2131	EXT1	ORPHA:502
HP:0000356	Abnormality of the outer ear	5495	PPM1B	ORPHA:163693
HP:0000356	Abnormality of the outer ear	6519	SLC3A1	ORPHA:163693
HP:0000356	Abnormality of the outer ear	9581	PREPL	ORPHA:163693
HP:0000356	Abnormality of the outer ear	79823	CAMKMT	ORPHA:163693
HP:0000356	Abnormality of the outer ear	5824	PEX19	ORPHA:44
HP:0000356	Abnormality of the outer ear	9409	PEX16	ORPHA:44
HP:0000356	Abnormality of the outer ear	5190	PEX6	ORPHA:44
HP:0000356	Abnormality of the outer ear	8799	PEX11B	ORPHA:44
HP:0000356	Abnormality of the outer ear	5194	PEX13	ORPHA:44
HP:0000356	Abnormality of the outer ear	5195	PEX14	ORPHA:44
HP:0000356	Abnormality of the outer ear	59341	TRPV4	ORPHA:2635
HP:0000356	Abnormality of the outer ear	22800	RRAS2	ORPHA:648
HP:0000356	Abnormality of the outer ear	6237	RRAS	ORPHA:648
HP:0000356	Abnormality of the outer ear	6655	SOS2	ORPHA:648
HP:0000356	Abnormality of the outer ear	5922	RASA2	ORPHA:648
HP:0000356	Abnormality of the outer ear	9939	RBM8A	ORPHA:3320
HP:0000356	Abnormality of the outer ear	64131	XYLT1	ORPHA:1425
HP:0000356	Abnormality of the outer ear	124583	CANT1	ORPHA:1425
HP:0000356	Abnormality of the outer ear	55790	CSGALNACT1	ORPHA:1425
HP:0000356	Abnormality of the outer ear	10210	TOPORS	ORPHA:2754
HP:0000356	Abnormality of the outer ear	5147	PDE6D	ORPHA:2754
HP:0000356	Abnormality of the outer ear	317662	FAM149B1	ORPHA:2754
HP:0000356	Abnormality of the outer ear	3239	HOXD13	ORPHA:887
HP:0000356	Abnormality of the outer ear	6736	SRY	ORPHA:1772
HP:0000356	Abnormality of the outer ear	23019	CNOT1	OMIM:618500
HP:0000356	Abnormality of the outer ear	23019	CNOT1	ORPHA:556955
HP:0000356	Abnormality of the outer ear	28981	IFT81	OMIM:617895
HP:0000356	Abnormality of the outer ear	6228	RPS23	OMIM:617412
HP:0000356	Abnormality of the outer ear	7360	UGP2	OMIM:618744
HP:0000356	Abnormality of the outer ear	7021	TFAP2B	OMIM:169100
HP:0000356	Abnormality of the outer ear	51	ACOX1	ORPHA:2971
HP:0000356	Abnormality of the outer ear	51	ACOX1	OMIM:264470
HP:0000356	Abnormality of the outer ear	55209	SETD5	ORPHA:404440
HP:0000356	Abnormality of the outer ear	55209	SETD5	OMIM:615761
HP:0000356	Abnormality of the outer ear	6662	SOX9	ORPHA:140
HP:0000356	Abnormality of the outer ear	6662	SOX9	OMIM:114290
HP:0000356	Abnormality of the outer ear	2073	ERCC5	OMIM:616570
HP:0000356	Abnormality of the outer ear	9578	CDC42BPB	OMIM:619841
HP:0000356	Abnormality of the outer ear	8942	KYNU	OMIM:617661
HP:0000356	Abnormality of the outer ear	283489	CHAMP1	OMIM:616579
HP:0000356	Abnormality of the outer ear	27245	AHDC1	ORPHA:412069
HP:0000356	Abnormality of the outer ear	27245	AHDC1	OMIM:615829
HP:0000356	Abnormality of the outer ear	23426	GRIP1	OMIM:617667
HP:0000356	Abnormality of the outer ear	341640	FREM2	OMIM:617666
HP:0000356	Abnormality of the outer ear	818	CAMK2G	OMIM:618522
HP:0000356	Abnormality of the outer ear	10606	PAICS	OMIM:619859
HP:0000356	Abnormality of the outer ear	81857	MED25	ORPHA:464738
HP:0000356	Abnormality of the outer ear	81857	MED25	OMIM:616449
HP:0000356	Abnormality of the outer ear	55681	SCYL2	OMIM:618766
HP:0000356	Abnormality of the outer ear	857	CAV1	OMIM:606721
HP:0000356	Abnormality of the outer ear	11285	B4GALT7	OMIM:130070
HP:0000356	Abnormality of the outer ear	55768	NGLY1	OMIM:615273
HP:0000356	Abnormality of the outer ear	5593	PRKG2	OMIM:619636
HP:0000356	Abnormality of the outer ear	79770	TXNDC15	OMIM:619879
HP:0000356	Abnormality of the outer ear	5979	RET	ORPHA:1848
HP:0000356	Abnormality of the outer ear	8516	ITGA8	ORPHA:1848
HP:0000356	Abnormality of the outer ear	8516	ITGA8	OMIM:191830
HP:0000356	Abnormality of the outer ear	26281	FGF20	ORPHA:1848
HP:0000356	Abnormality of the outer ear	2674	GFRA1	ORPHA:1848
HP:0000356	Abnormality of the outer ear	7484	WNT9B	ORPHA:1848
HP:0000356	Abnormality of the outer ear	80000	GREB1L	ORPHA:1848
HP:0000356	Abnormality of the outer ear	253959	RALGAPA1	OMIM:618797
HP:0000356	Abnormality of the outer ear	56098	PCDHGC4	OMIM:619880
HP:0000356	Abnormality of the outer ear	3930	LBR	OMIM:215140
HP:0000356	Abnormality of the outer ear	23483	TGDS	OMIM:616145
HP:0000356	Abnormality of the outer ear	54916	TMEM260	OMIM:617478
HP:0000356	Abnormality of the outer ear	23499	MACF1	OMIM:618325
HP:0000356	Abnormality of the outer ear	6135	RPL11	ORPHA:124
HP:0000356	Abnormality of the outer ear	6138	RPL15	ORPHA:124
HP:0000356	Abnormality of the outer ear	6229	RPS24	ORPHA:124
HP:0000356	Abnormality of the outer ear	6125	RPL5	ORPHA:124
HP:0000356	Abnormality of the outer ear	6204	RPS10	ORPHA:124
HP:0000356	Abnormality of the outer ear	6224	RPS20	ORPHA:124
HP:0000356	Abnormality of the outer ear	6165	RPL35A	ORPHA:124
HP:0000356	Abnormality of the outer ear	6165	RPL35A	OMIM:612528
HP:0000356	Abnormality of the outer ear	2623	GATA1	ORPHA:124
HP:0000356	Abnormality of the outer ear	6223	RPS19	ORPHA:124
HP:0000356	Abnormality of the outer ear	6232	RPS27	ORPHA:124
HP:0000356	Abnormality of the outer ear	11224	RPL35	ORPHA:124
HP:0000356	Abnormality of the outer ear	6160	RPL31	ORPHA:124
HP:0000356	Abnormality of the outer ear	6218	RPS17	ORPHA:124
HP:0000356	Abnormality of the outer ear	6201	RPS7	ORPHA:124
HP:0000356	Abnormality of the outer ear	6155	RPL27	ORPHA:124
HP:0000356	Abnormality of the outer ear	6210	RPS15A	ORPHA:124
HP:0000356	Abnormality of the outer ear	90121	TSR2	ORPHA:124
HP:0000356	Abnormality of the outer ear	6141	RPL18	ORPHA:124
HP:0000356	Abnormality of the outer ear	6235	RPS29	ORPHA:124
HP:0000356	Abnormality of the outer ear	51816	ADA2	ORPHA:124
HP:0000356	Abnormality of the outer ear	404672	GTF2H5	OMIM:616395
HP:0000356	Abnormality of the outer ear	1387	CREBBP	OMIM:618332
HP:0000356	Abnormality of the outer ear	1387	CREBBP	OMIM:180849
HP:0000356	Abnormality of the outer ear	1387	CREBBP	ORPHA:353277
HP:0000356	Abnormality of the outer ear	1917	EEF1A2	OMIM:616393
HP:0000356	Abnormality of the outer ear	54101	RIPK4	OMIM:263650
HP:0000356	Abnormality of the outer ear	60529	ALX4	ORPHA:228390
HP:0000356	Abnormality of the outer ear	60529	ALX4	OMIM:613451
HP:0000356	Abnormality of the outer ear	26173	INTS1	OMIM:618571
HP:0000356	Abnormality of the outer ear	256297	PTF1A	ORPHA:65288
HP:0000356	Abnormality of the outer ear	256297	PTF1A	OMIM:609069
HP:0000356	Abnormality of the outer ear	1523	CUX1	OMIM:618330
HP:0000356	Abnormality of the outer ear	4212	MEIS2	ORPHA:261190
HP:0000356	Abnormality of the outer ear	4212	MEIS2	OMIM:600987
HP:0000356	Abnormality of the outer ear	5813	PURA	ORPHA:314655
HP:0000356	Abnormality of the outer ear	51574	LARP7	OMIM:615071
HP:0000356	Abnormality of the outer ear	51574	LARP7	ORPHA:319671
HP:0000356	Abnormality of the outer ear	8473	OGT	OMIM:300997
HP:0000356	Abnormality of the outer ear	54517	PUS7	OMIM:618342
HP:0000356	Abnormality of the outer ear	51259	TMEM216	OMIM:608091
HP:0000356	Abnormality of the outer ear	56623	INPP5E	OMIM:213300
HP:0000356	Abnormality of the outer ear	56623	INPP5E	ORPHA:1454
HP:0000356	Abnormality of the outer ear	56623	INPP5E	ORPHA:475
HP:0000356	Abnormality of the outer ear	4703	NEB	OMIM:256030
HP:0000356	Abnormality of the outer ear	4703	NEB	ORPHA:171433
HP:0000356	Abnormality of the outer ear	4703	NEB	ORPHA:171430
HP:0000356	Abnormality of the outer ear	2972	BRF1	ORPHA:444072
HP:0000356	Abnormality of the outer ear	2972	BRF1	OMIM:616202
HP:0000356	Abnormality of the outer ear	91754	NEK9	OMIM:617022
HP:0000356	Abnormality of the outer ear	5649	RELN	ORPHA:89844
HP:0000356	Abnormality of the outer ear	6492	SIM1	ORPHA:171829
HP:0000356	Abnormality of the outer ear	114803	MYSM1	OMIM:618116
HP:0000356	Abnormality of the outer ear	51114	ZDHHC9	ORPHA:776
HP:0000356	Abnormality of the outer ear	65109	UPF3B	ORPHA:776
HP:0000356	Abnormality of the outer ear	55777	MBD5	OMIM:156200
HP:0000356	Abnormality of the outer ear	1312	COMT	ORPHA:567
HP:0000356	Abnormality of the outer ear	221037	JMJD1C	ORPHA:567
HP:0000356	Abnormality of the outer ear	2812	GP1BB	ORPHA:567
HP:0000356	Abnormality of the outer ear	6239	RREB1	ORPHA:567
HP:0000356	Abnormality of the outer ear	6899	TBX1	ORPHA:567
HP:0000356	Abnormality of the outer ear	6899	TBX1	OMIM:188400
HP:0000356	Abnormality of the outer ear	7290	HIRA	ORPHA:567
HP:0000356	Abnormality of the outer ear	9632	SEC24C	ORPHA:567
HP:0000356	Abnormality of the outer ear	7353	UFD1	ORPHA:567
HP:0000356	Abnormality of the outer ear	421	ARVCF	ORPHA:567
HP:0000356	Abnormality of the outer ear	7703	PCGF2	OMIM:618371
HP:0000356	Abnormality of the outer ear	23111	SPART	ORPHA:101000
HP:0000356	Abnormality of the outer ear	51729	WBP11	OMIM:619227
HP:0000356	Abnormality of the outer ear	50801	KCNK4	OMIM:618381
HP:0000356	Abnormality of the outer ear	92002	CCNQ	OMIM:300707
HP:0000356	Abnormality of the outer ear	1457	CSNK2A1	OMIM:617062
HP:0000356	Abnormality of the outer ear	8567	MADD	OMIM:619004
HP:0000356	Abnormality of the outer ear	91875	TTC5	OMIM:619244
HP:0000356	Abnormality of the outer ear	2799	GNS	OMIM:252940
HP:0000356	Abnormality of the outer ear	199221	DZIP1L	ORPHA:731
HP:0000356	Abnormality of the outer ear	5314	PKHD1	ORPHA:731
HP:0000356	Abnormality of the outer ear	7169	TPM2	OMIM:108120
HP:0000356	Abnormality of the outer ear	403	ARL3	OMIM:618161
HP:0000356	Abnormality of the outer ear	403	ARL3	ORPHA:475
HP:0000356	Abnormality of the outer ear	80267	EDEM3	OMIM:619493
HP:0000356	Abnormality of the outer ear	84231	TRAF7	OMIM:618164
HP:0000356	Abnormality of the outer ear	89970	RSPRY1	ORPHA:457395
HP:0000356	Abnormality of the outer ear	89970	RSPRY1	OMIM:616723
HP:0000356	Abnormality of the outer ear	5557	PRIM1	OMIM:620005
HP:0000356	Abnormality of the outer ear	10020	GNE	ORPHA:3166
HP:0000356	Abnormality of the outer ear	10020	GNE	OMIM:269921
HP:0000356	Abnormality of the outer ear	219844	HYLS1	OMIM:236680
HP:0000356	Abnormality of the outer ear	219844	HYLS1	ORPHA:475
HP:0000356	Abnormality of the outer ear	219844	HYLS1	ORPHA:2189
HP:0000356	Abnormality of the outer ear	9897	WASHC5	ORPHA:7
HP:0000356	Abnormality of the outer ear	9897	WASHC5	OMIM:220210
HP:0000356	Abnormality of the outer ear	28952	CCDC22	ORPHA:7
HP:0000356	Abnormality of the outer ear	51626	DYNC2LI1	OMIM:617088
HP:0000356	Abnormality of the outer ear	118429	ANTXR2	OMIM:228600
HP:0000356	Abnormality of the outer ear	84168	ANTXR1	ORPHA:2067
HP:0000356	Abnormality of the outer ear	168667	BMPER	OMIM:608022
HP:0000356	Abnormality of the outer ear	2294	FOXF1	OMIM:265380
HP:0000356	Abnormality of the outer ear	5393	EXOSC9	OMIM:618065
HP:0000356	Abnormality of the outer ear	57539	WDR35	OMIM:613610
HP:0000356	Abnormality of the outer ear	80144	FRAS1	OMIM:219000
HP:0000356	Abnormality of the outer ear	89910	UBE3B	OMIM:244450
HP:0000356	Abnormality of the outer ear	4010	LMX1B	ORPHA:495818
HP:0000356	Abnormality of the outer ear	6812	STXBP1	ORPHA:495818
HP:0000356	Abnormality of the outer ear	55788	LMBRD1	OMIM:277380
HP:0000356	Abnormality of the outer ear	26153	KIF26A	OMIM:620156
HP:0000356	Abnormality of the outer ear	1301	COL11A1	OMIM:154780
HP:0000356	Abnormality of the outer ear	1301	COL11A1	OMIM:228520
HP:0000356	Abnormality of the outer ear	1301	COL11A1	ORPHA:2021
HP:0000356	Abnormality of the outer ear	56992	KIF15	ORPHA:261323
HP:0000356	Abnormality of the outer ear	1801	DPH1	OMIM:616901
HP:0000356	Abnormality of the outer ear	1801	DPH1	ORPHA:459061
HP:0000356	Abnormality of the outer ear	1509	CTSD	OMIM:610127
HP:0000356	Abnormality of the outer ear	23325	WASHC4	OMIM:615817
HP:0000356	Abnormality of the outer ear	9896	FIG4	ORPHA:3472
HP:0000356	Abnormality of the outer ear	9896	FIG4	OMIM:216340
HP:0000356	Abnormality of the outer ear	55697	VAC14	ORPHA:3472
HP:0000356	Abnormality of the outer ear	23036	ZNF292	OMIM:619188
HP:0000356	Abnormality of the outer ear	55148	UBR7	OMIM:619189
HP:0000356	Abnormality of the outer ear	23545	ATP6V0A2	OMIM:278250
HP:0000356	Abnormality of the outer ear	23545	ATP6V0A2	OMIM:219200
HP:0000356	Abnormality of the outer ear	23545	ATP6V0A2	ORPHA:2834
HP:0000356	Abnormality of the outer ear	23545	ATP6V0A2	ORPHA:357074
HP:0000356	Abnormality of the outer ear	79867	TCTN2	OMIM:613885
HP:0000356	Abnormality of the outer ear	79867	TCTN2	ORPHA:475
HP:0000356	Abnormality of the outer ear	55636	CHD7	OMIM:214800
HP:0000356	Abnormality of the outer ear	63894	VIPAS39	OMIM:613404
HP:0000356	Abnormality of the outer ear	83879	CDCA7	OMIM:616910
HP:0000356	Abnormality of the outer ear	83879	CDCA7	ORPHA:2268
HP:0000356	Abnormality of the outer ear	79053	ALG8	OMIM:608104
HP:0000356	Abnormality of the outer ear	79053	ALG8	ORPHA:79325
HP:0000356	Abnormality of the outer ear	54084	TSPEAR	OMIM:620173
HP:0000356	Abnormality of the outer ear	10801	SEPTIN9	OMIM:162100
HP:0000356	Abnormality of the outer ear	9508	ADAMTS3	ORPHA:2136
HP:0000356	Abnormality of the outer ear	147372	CCBE1	ORPHA:2136
HP:0000356	Abnormality of the outer ear	147372	CCBE1	OMIM:235510
HP:0000356	Abnormality of the outer ear	26053	AUTS2	OMIM:615834
HP:0000356	Abnormality of the outer ear	26053	AUTS2	ORPHA:352490
HP:0000356	Abnormality of the outer ear	10013	HDAC6	ORPHA:163966
HP:0000356	Abnormality of the outer ear	10013	HDAC6	OMIM:300863
HP:0000356	Abnormality of the outer ear	23137	SMC5	OMIM:620185
HP:0000356	Abnormality of the outer ear	8481	OFD1	OMIM:311200
HP:0000356	Abnormality of the outer ear	8481	OFD1	OMIM:300804
HP:0000356	Abnormality of the outer ear	8481	OFD1	OMIM:300209
HP:0000356	Abnormality of the outer ear	10472	ZBTB18	OMIM:612337
HP:0000356	Abnormality of the outer ear	10472	ZBTB18	ORPHA:36367
HP:0000356	Abnormality of the outer ear	2255	FGF10	ORPHA:2363
HP:0000356	Abnormality of the outer ear	158	ADSL	ORPHA:46
HP:0000356	Abnormality of the outer ear	158	ADSL	OMIM:103050
HP:0000356	Abnormality of the outer ear	9652	SKIC3	OMIM:222470
HP:0000356	Abnormality of the outer ear	64116	SLC39A8	ORPHA:468699
HP:0000356	Abnormality of the outer ear	6509	SLC1A4	ORPHA:447997
HP:0000356	Abnormality of the outer ear	4208	MEF2C	OMIM:613443
HP:0000356	Abnormality of the outer ear	7407	VARS1	OMIM:617802
HP:0000356	Abnormality of the outer ear	10535	RNASEH2A	ORPHA:51
HP:0000356	Abnormality of the outer ear	10535	RNASEH2A	OMIM:610333
HP:0000356	Abnormality of the outer ear	84153	RNASEH2C	ORPHA:51
HP:0000356	Abnormality of the outer ear	25939	SAMHD1	ORPHA:51
HP:0000356	Abnormality of the outer ear	79621	RNASEH2B	ORPHA:51
HP:0000356	Abnormality of the outer ear	103	ADAR	ORPHA:51
HP:0000356	Abnormality of the outer ear	11277	TREX1	ORPHA:51
HP:0000356	Abnormality of the outer ear	100147744	RNU7-1	ORPHA:51
HP:0000356	Abnormality of the outer ear	134353	LSM11	ORPHA:51
HP:0000356	Abnormality of the outer ear	64135	IFIH1	ORPHA:51
HP:0000356	Abnormality of the outer ear	10159	ATP6AP2	OMIM:301045
HP:0000356	Abnormality of the outer ear	91949	COG7	OMIM:608779
HP:0000356	Abnormality of the outer ear	10735	STAG2	OMIM:301043
HP:0000356	Abnormality of the outer ear	10735	STAG2	OMIM:301022
HP:0000356	Abnormality of the outer ear	27238	GPKOW	ORPHA:2570
HP:0000356	Abnormality of the outer ear	22856	CHSY1	ORPHA:363417
HP:0000356	Abnormality of the outer ear	1305	COL13A1	OMIM:616720
HP:0000356	Abnormality of the outer ear	1305	COL13A1	ORPHA:98914
HP:0000356	Abnormality of the outer ear	4893	NRAS	OMIM:613224
HP:0000356	Abnormality of the outer ear	83479	DDX59	OMIM:174300
HP:0000356	Abnormality of the outer ear	169792	GLIS3	OMIM:610199
HP:0000356	Abnormality of the outer ear	79644	SRD5A3	OMIM:612379
HP:0000356	Abnormality of the outer ear	7547	ZIC3	OMIM:306955
HP:0000356	Abnormality of the outer ear	57211	ADGRG6	OMIM:616503
HP:0000356	Abnormality of the outer ear	3759	KCNJ2	OMIM:170390
HP:0000356	Abnormality of the outer ear	3759	KCNJ2	ORPHA:37553
HP:0000356	Abnormality of the outer ear	55764	IFT122	OMIM:218330
HP:0000356	Abnormality of the outer ear	10943	MSL3	OMIM:301032
HP:0000356	Abnormality of the outer ear	5745	PTH1R	ORPHA:50945
HP:0000356	Abnormality of the outer ear	8985	PLOD3	OMIM:612394
HP:0000356	Abnormality of the outer ear	91147	TMEM67	ORPHA:1454
HP:0000356	Abnormality of the outer ear	91147	TMEM67	ORPHA:475
HP:0000356	Abnormality of the outer ear	23322	RPGRIP1L	ORPHA:1454
HP:0000356	Abnormality of the outer ear	57545	CC2D2A	ORPHA:1454
HP:0000356	Abnormality of the outer ear	55969	RAB5IF	OMIM:616994
HP:0000356	Abnormality of the outer ear	4758	NEU1	ORPHA:93400
HP:0000356	Abnormality of the outer ear	4758	NEU1	ORPHA:93399
HP:0000356	Abnormality of the outer ear	60	ACTB	OMIM:243310
HP:0000356	Abnormality of the outer ear	55617	TASP1	OMIM:618950
HP:0000356	Abnormality of the outer ear	6182	MRPL12	OMIM:618951
HP:0000356	Abnormality of the outer ear	9702	CEP57	OMIM:614114
HP:0000356	Abnormality of the outer ear	60482	SLC5A7	ORPHA:98914
HP:0000356	Abnormality of the outer ear	4649	MYO9A	ORPHA:98914
HP:0000356	Abnormality of the outer ear	1103	CHAT	ORPHA:98914
HP:0000356	Abnormality of the outer ear	6576	SLC25A1	ORPHA:98914
HP:0000356	Abnormality of the outer ear	6843	VAMP1	ORPHA:98914
HP:0000356	Abnormality of the outer ear	375790	AGRN	ORPHA:98914
HP:0000356	Abnormality of the outer ear	127833	SYT2	ORPHA:98914
HP:0000356	Abnormality of the outer ear	6616	SNAP25	ORPHA:98914
HP:0000356	Abnormality of the outer ear	84628	NTNG2	OMIM:618718
HP:0000356	Abnormality of the outer ear	113246	C12orf57	OMIM:218340
HP:0000356	Abnormality of the outer ear	9321	TRIP11	OMIM:200600
HP:0000356	Abnormality of the outer ear	6651	SON	ORPHA:500150
HP:0000356	Abnormality of the outer ear	6651	SON	OMIM:617140
HP:0000356	Abnormality of the outer ear	9786	KIAA0586	OMIM:616546
HP:0000356	Abnormality of the outer ear	9786	KIAA0586	ORPHA:397715
HP:0000356	Abnormality of the outer ear	9786	KIAA0586	ORPHA:475
HP:0000356	Abnormality of the outer ear	1748	DLX4	OMIM:616788
HP:0000356	Abnormality of the outer ear	4000	LMNA	ORPHA:1662
HP:0000356	Abnormality of the outer ear	10269	ZMPSTE24	ORPHA:1662
HP:0000356	Abnormality of the outer ear	10269	ZMPSTE24	OMIM:275210
HP:0000356	Abnormality of the outer ear	84700	MYO18B	OMIM:616549
HP:0000356	Abnormality of the outer ear	1146	CHRNG	ORPHA:2990
HP:0000356	Abnormality of the outer ear	1146	CHRNG	OMIM:265000
HP:0000356	Abnormality of the outer ear	1146	CHRNG	OMIM:253290
HP:0000356	Abnormality of the outer ear	7473	WNT3	OMIM:273395
HP:0000356	Abnormality of the outer ear	79583	TMEM231	ORPHA:2752
HP:0000356	Abnormality of the outer ear	5087	PBX1	OMIM:617641
HP:0000356	Abnormality of the outer ear	529	ATP6V1E1	OMIM:617402
HP:0000356	Abnormality of the outer ear	529	ATP6V1E1	ORPHA:357074
HP:0000356	Abnormality of the outer ear	84148	KAT8	OMIM:618974
HP:0000356	Abnormality of the outer ear	246329	STAC3	OMIM:255995
HP:0000356	Abnormality of the outer ear	3762	KCNJ5	ORPHA:37553
HP:0000356	Abnormality of the outer ear	10617	STAMBP	OMIM:614261
HP:0000356	Abnormality of the outer ear	8367	H4C5	OMIM:619950
HP:0000356	Abnormality of the outer ear	6016	RIT1	OMIM:615355
HP:0000356	Abnormality of the outer ear	10054	UBA2	OMIM:619959
HP:0000356	Abnormality of the outer ear	64220	STRA6	OMIM:601186
HP:0000356	Abnormality of the outer ear	64220	STRA6	ORPHA:2470
HP:0000356	Abnormality of the outer ear	79848	CSPP1	ORPHA:397715
HP:0000356	Abnormality of the outer ear	79848	CSPP1	ORPHA:475
HP:0000356	Abnormality of the outer ear	6536	SLC6A9	OMIM:617301
HP:0000356	Abnormality of the outer ear	1723	DHODH	OMIM:263750
HP:0000356	Abnormality of the outer ear	5830	PEX5	OMIM:202370
HP:0000356	Abnormality of the outer ear	28960	DCPS	OMIM:616459
HP:0000356	Abnormality of the outer ear	23384	SPECC1L	ORPHA:1519
HP:0000356	Abnormality of the outer ear	54	ACP5	OMIM:607944
HP:0000356	Abnormality of the outer ear	10381	TUBB3	ORPHA:300570
HP:0000356	Abnormality of the outer ear	79184	BRCC3	ORPHA:280679
HP:0000356	Abnormality of the outer ear	2626	GATA4	ORPHA:251071
HP:0000356	Abnormality of the outer ear	54968	TMEM70	OMIM:614052
HP:0000356	Abnormality of the outer ear	54968	TMEM70	ORPHA:1194
HP:0000356	Abnormality of the outer ear	22884	WDR37	OMIM:618652
HP:0000356	Abnormality of the outer ear	1656	DDX6	OMIM:618653
HP:0000356	Abnormality of the outer ear	4297	KMT2A	ORPHA:319182
HP:0000356	Abnormality of the outer ear	4297	KMT2A	OMIM:605130
HP:0000356	Abnormality of the outer ear	4174	MCM5	OMIM:617564
HP:0000356	Abnormality of the outer ear	84314	TMEM107	OMIM:617563
HP:0000356	Abnormality of the outer ear	57178	ZMIZ1	OMIM:618659
HP:0000356	Abnormality of the outer ear	55623	THUMPD1	OMIM:619989
HP:0000356	Abnormality of the outer ear	3476	IGBP1	ORPHA:52055
HP:0000356	Abnormality of the outer ear	3476	IGBP1	OMIM:300472
HP:0000356	Abnormality of the outer ear	79600	TCTN1	ORPHA:475
HP:0000356	Abnormality of the outer ear	51684	SUFU	ORPHA:475
HP:0000356	Abnormality of the outer ear	54806	AHI1	ORPHA:475
HP:0000356	Abnormality of the outer ear	54806	AHI1	OMIM:608629
HP:0000356	Abnormality of the outer ear	200894	ARL13B	ORPHA:475
HP:0000356	Abnormality of the outer ear	9731	CEP104	ORPHA:475
HP:0000356	Abnormality of the outer ear	23247	KATNIP	ORPHA:475
HP:0000356	Abnormality of the outer ear	219854	TMEM218	ORPHA:475
HP:0000356	Abnormality of the outer ear	54903	MKS1	ORPHA:475
HP:0000356	Abnormality of the outer ear	54903	MKS1	OMIM:249000
HP:0000356	Abnormality of the outer ear	95681	CEP41	ORPHA:475
HP:0000356	Abnormality of the outer ear	80776	B9D2	ORPHA:475
HP:0000356	Abnormality of the outer ear	10464	PIBF1	ORPHA:475
HP:0000356	Abnormality of the outer ear	80210	ARMC9	ORPHA:475
HP:0000356	Abnormality of the outer ear	25776	CBY1	ORPHA:475
HP:0000356	Abnormality of the outer ear	27077	B9D1	ORPHA:475
HP:0000356	Abnormality of the outer ear	1789	DNMT3B	OMIM:242860
HP:0000356	Abnormality of the outer ear	1789	DNMT3B	ORPHA:2268
HP:0000356	Abnormality of the outer ear	51604	PIGT	OMIM:615398
HP:0000356	Abnormality of the outer ear	51604	PIGT	ORPHA:369837
HP:0000356	Abnormality of the outer ear	7862	BRPF1	OMIM:617333
HP:0000356	Abnormality of the outer ear	5048	PAFAH1B1	ORPHA:217385
HP:0000356	Abnormality of the outer ear	7531	YWHAE	ORPHA:217385
HP:0000356	Abnormality of the outer ear	9841	ZBTB24	OMIM:614069
HP:0000356	Abnormality of the outer ear	9841	ZBTB24	ORPHA:2268
HP:0000356	Abnormality of the outer ear	8364	H4C3	OMIM:619758
HP:0000356	Abnormality of the outer ear	8314	BAP1	OMIM:619762
HP:0000356	Abnormality of the outer ear	51098	IFT52	OMIM:617102
HP:0000356	Abnormality of the outer ear	53335	BCL11A	OMIM:617101
HP:0000356	Abnormality of the outer ear	4849	CNOT3	OMIM:618672
HP:0000356	Abnormality of the outer ear	9928	KIF14	OMIM:616258
HP:0000356	Abnormality of the outer ear	2542	SLC37A4	OMIM:619525
HP:0000356	Abnormality of the outer ear	2683	B4GALT1	ORPHA:79332
HP:0000356	Abnormality of the outer ear	2556	GABRA3	OMIM:301091
HP:0000356	Abnormality of the outer ear	57724	EPG5	OMIM:242840
HP:0000356	Abnormality of the outer ear	23162	MAPK8IP3	OMIM:618443
HP:0000356	Abnormality of the outer ear	55120	FANCL	OMIM:614083
HP:0000356	Abnormality of the outer ear	79989	IFT56	OMIM:619534
HP:0000356	Abnormality of the outer ear	9319	TRIP13	OMIM:617598
HP:0000356	Abnormality of the outer ear	85365	ALG2	OMIM:607906
HP:0000356	Abnormality of the outer ear	57479	PRR12	OMIM:619539
HP:0000356	Abnormality of the outer ear	10516	FBLN5	ORPHA:90348
HP:0000356	Abnormality of the outer ear	1107	CHD3	OMIM:618205
HP:0000356	Abnormality of the outer ear	7476	WNT7A	OMIM:276820
HP:0000356	Abnormality of the outer ear	29929	ALG6	ORPHA:79320
HP:0000356	Abnormality of the outer ear	54361	WNT4	OMIM:611812
HP:0000356	Abnormality of the outer ear	257	ALX3	OMIM:136760
HP:0000356	Abnormality of the outer ear	6261	RYR1	OMIM:619542
HP:0000356	Abnormality of the outer ear	3658	IREB2	OMIM:618451
HP:0000356	Abnormality of the outer ear	29968	PSAT1	OMIM:616038
HP:0000356	Abnormality of the outer ear	55770	EXOC2	OMIM:619306
HP:0000356	Abnormality of the outer ear	6909	TBX2	OMIM:618223
HP:0000356	Abnormality of the outer ear	5631	PRPS1	ORPHA:423479
HP:0000356	Abnormality of the outer ear	5631	PRPS1	OMIM:300661
HP:0000356	Abnormality of the outer ear	79868	ALG13	OMIM:300884
HP:0000356	Abnormality of the outer ear	2710	GK	OMIM:307030
HP:0000356	Abnormality of the outer ear	1725	DHPS	OMIM:618480
HP:0000356	Abnormality of the outer ear	57551	TAOK1	OMIM:619575
HP:0000356	Abnormality of the outer ear	1108	CHD4	OMIM:617159
HP:0000356	Abnormality of the outer ear	1147	CHUK	OMIM:619339
HP:0000356	Abnormality of the outer ear	9509	ADAMTS2	OMIM:225410
HP:0000356	Abnormality of the outer ear	26276	VPS33B	OMIM:208085
HP:0000356	Abnormality of the outer ear	10524	KAT5	OMIM:619103
HP:0000356	Abnormality of the outer ear	3977	LIFR	OMIM:601559
HP:0000356	Abnormality of the outer ear	9244	CRLF1	OMIM:272430
HP:0000356	Abnormality of the outer ear	57003	CCDC47	OMIM:618268
HP:0000356	Abnormality of the outer ear	340419	RSPO2	OMIM:618021
HP:0000356	Abnormality of the outer ear	79005	SCNM1	OMIM:620107
HP:0000356	Abnormality of the outer ear	57465	TBC1D24	ORPHA:79500
HP:0000356	Abnormality of the outer ear	57465	TBC1D24	OMIM:220500
HP:0000356	Abnormality of the outer ear	10653	SPINT2	OMIM:270420
HP:0000356	Abnormality of the outer ear	285590	SH3PXD2B	OMIM:249420
HP:0000356	Abnormality of the outer ear	51715	RAB23	OMIM:201000
HP:0000356	Abnormality of the outer ear	1759	DNM1	OMIM:620352
HP:0000356	Abnormality of the outer ear	2177	FANCD2	OMIM:227646
HP:0000356	Abnormality of the outer ear	5528	PPP2R5D	ORPHA:457279
HP:0000356	Abnormality of the outer ear	1984	EIF5A	OMIM:619376
HP:0000356	Abnormality of the outer ear	2733	GLE1	OMIM:611890
HP:0000356	Abnormality of the outer ear	3295	HSD17B4	OMIM:261515
HP:0000356	Abnormality of the outer ear	129285	PPP1R21	OMIM:619383
HP:0000356	Abnormality of the outer ear	221692	PHACTR1	OMIM:618298
HP:0000356	Abnormality of the outer ear	3480	IGF1R	OMIM:270450
HP:0000356	Abnormality of the outer ear	83483	PLVAP	OMIM:618183
HP:0000356	Abnormality of the outer ear	10128	LRPPRC	OMIM:220111
HP:0000356	Abnormality of the outer ear	9131	AIFM1	OMIM:300232
HP:0000356	Abnormality of the outer ear	8506	CNTNAP1	OMIM:618186
HP:0000356	Abnormality of the outer ear	55503	TRPV6	OMIM:618188
HP:0000356	Abnormality of the outer ear	5894	RAF1	OMIM:611554
HP:0000356	Abnormality of the outer ear	5894	RAF1	OMIM:611553
HP:0000356	Abnormality of the outer ear	775	CACNA1C	OMIM:620029
HP:0000356	Abnormality of the outer ear	8854	ALDH1A2	OMIM:620025
HP:0000356	Abnormality of the outer ear	10274	STAG1	ORPHA:502434
HP:0000356	Abnormality of the outer ear	4774	NFIA	OMIM:613735
HP:0000356	Abnormality of the outer ear	118987	PDZD8	OMIM:620021
HP:0000356	Abnormality of the outer ear	2629	GBA1	OMIM:608013
HP:0000356	Abnormality of the outer ear	23118	TAB2	ORPHA:228410
HP:0000356	Abnormality of the outer ear	58	ACTA1	ORPHA:171433
HP:0000356	Abnormality of the outer ear	58	ACTA1	ORPHA:171430
HP:0000356	Abnormality of the outer ear	10324	KLHL41	ORPHA:171433
HP:0000356	Abnormality of the outer ear	10324	KLHL41	ORPHA:171430
HP:0000356	Abnormality of the outer ear	7170	TPM3	ORPHA:171433
HP:0000356	Abnormality of the outer ear	2317	FLNB	ORPHA:1190
HP:0000356	Abnormality of the outer ear	2317	FLNB	OMIM:108720
HP:0000356	Abnormality of the outer ear	9442	MED27	OMIM:619286
HP:0000356	Abnormality of the outer ear	131377	KLHL40	ORPHA:171430
HP:0000356	Abnormality of the outer ear	56203	LMOD3	ORPHA:171430
HP:0000356	Abnormality of the outer ear	22858	CILK1	OMIM:612651
HP:0000356	Abnormality of the outer ear	56262	LRRC8A	OMIM:613506
HP:0000356	Abnormality of the outer ear	170302	ARX	OMIM:300215
HP:0000356	Abnormality of the outer ear	3899	AFF3	OMIM:619297
HP:0000356	Abnormality of the outer ear	9739	SETD1A	OMIM:619056
HP:0000356	Abnormality of the outer ear	55107	ANO1	OMIM:620045
HP:0000356	Abnormality of the outer ear	4524	MTHFR	ORPHA:563612
HP:0000356	Abnormality of the outer ear	57216	VANGL2	ORPHA:563612
HP:0000356	Abnormality of the outer ear	3070	HELLS	ORPHA:2268
HP:0000356	Abnormality of the outer ear	10352	WARS2	ORPHA:572798
HP:0000356	Abnormality of the outer ear	51021	MRPS16	OMIM:610498
HP:0000356	Abnormality of the outer ear	2752	GLUL	OMIM:610015
HP:0000356	Abnormality of the outer ear	657	BMPR1A	ORPHA:79076
HP:0000356	Abnormality of the outer ear	5193	PEX12	OMIM:614859
HP:0000356	Abnormality of the outer ear	23265	EXOC7	OMIM:619072
HP:0000356	Abnormality of the outer ear	1802	DPH2	OMIM:620062
HP:0000356	Abnormality of the outer ear	5828	PEX2	OMIM:614866
HP:0000356	Abnormality of the outer ear	55165	CEP55	OMIM:236500
HP:0000356	Abnormality of the outer ear	55027	HEATR3	OMIM:620072
HP:0000356	Abnormality of the outer ear	4089	SMAD4	OMIM:139210
HP:0000356	Abnormality of the outer ear	5192	PEX10	OMIM:614870
HP:0000356	Abnormality of the outer ear	5324	PLAG1	ORPHA:397590
HP:0000356	Abnormality of the outer ear	8091	HMGA2	ORPHA:397590
HP:0000356	Abnormality of the outer ear	5591	PRKDC	OMIM:615966
HP:0000356	Abnormality of the outer ear	471	ATIC	OMIM:608688
HP:0000356	Abnormality of the outer ear	471	ATIC	ORPHA:250977
HP:0000356	Abnormality of the outer ear	668	FOXL2	ORPHA:572333
HP:0000356	Abnormality of the outer ear	10430	TMEM147	OMIM:620075
HP:0000356	Abnormality of the outer ear	3187	HNRNPH1	OMIM:620083
HP:0000356	Abnormality of the outer ear	5915	RARB	ORPHA:2470
HP:0000356	Abnormality of the outer ear	9775	EIF4A3	OMIM:268305
HP:0000356	Abnormality of the outer ear	667	DST	OMIM:614653
HP:0000356	Abnormality of the outer ear	2702	GJA5	OMIM:612474
HP:0000356	Abnormality of the outer ear	2703	GJA8	OMIM:612474
HP:0000356	Abnormality of the outer ear	51025	PAM16	OMIM:613320
HP:0000356	Abnormality of the outer ear	27152	INTU	OMIM:617925
HP:0000356	Abnormality of the outer ear	27152	INTU	OMIM:617926
HP:0000356	Abnormality of the outer ear	1144	CHRND	OMIM:253290
HP:0000356	Abnormality of the outer ear	6888	TALDO1	OMIM:606003
HP:0000356	Abnormality of the outer ear	3720	JARID2	OMIM:620098
HP:0000356	Abnormality of the outer ear	9698	PUM1	OMIM:617931
HP:0000356	Abnormality of the outer ear	55784	MCTP2	ORPHA:1596
HP:0000356	Abnormality of the outer ear	30008	EFEMP2	OMIM:614437
HP:0000356	Abnormality of the outer ear	51116	MRPS2	OMIM:617950
HP:0000356	Abnormality of the outer ear	10265	IRX5	OMIM:611174
HP:0000356	Abnormality of the outer ear	5925	RB1	ORPHA:1587
HP:0000356	Abnormality of the outer ear	23511	NUP188	OMIM:618804
HP:0000356	Abnormality of the outer ear	7874	USP7	OMIM:616863
HP:0000356	Abnormality of the outer ear	1063	CENPF	OMIM:243605
HP:0000356	Abnormality of the outer ear	54551	MAGEL2	OMIM:615547
HP:0000356	Abnormality of the outer ear	57572	DOCK6	OMIM:614219
HP:0000356	Abnormality of the outer ear	29980	DONSON	OMIM:251230
HP:0000356	Abnormality of the outer ear	490	ATP2B1	OMIM:619910
HP:0000356	Abnormality of the outer ear	54676	GTPBP2	OMIM:617988
HP:0000356	Abnormality of the outer ear	100506658	OCLN	OMIM:251290
HP:0000356	Abnormality of the outer ear	5718	PSMD12	OMIM:617516
HP:0000356	Abnormality of the outer ear	4848	CNOT2	OMIM:618608
HP:0000356	Abnormality of the outer ear	9469	CHST3	OMIM:245600
HP:0000356	Abnormality of the outer ear	26229	B3GAT3	OMIM:245600
HP:0000356	Abnormality of the outer ear	5307	PITX1	OMIM:119800
HP:0000356	Abnormality of the outer ear	55331	ACER3	OMIM:617762
HP:0000356	Abnormality of the outer ear	92935	MARS2	OMIM:616430
HP:0000356	Abnormality of the outer ear	58499	ZNF462	OMIM:618619
HP:0000356	Abnormality of the outer ear	137492	VPS37A	ORPHA:319199
HP:0000356	Abnormality of the outer ear	11160	ERLIN2	ORPHA:280384
HP:0000356	Abnormality of the outer ear	11160	ERLIN2	ORPHA:209951
HP:0000356	Abnormality of the outer ear	123606	NIPA1	ORPHA:261183
HP:0000356	Abnormality of the outer ear	7283	TUBG1	ORPHA:261183
HP:0000356	Abnormality of the outer ear	81614	NIPA2	ORPHA:261183
HP:0000356	Abnormality of the outer ear	51621	KLF13	OMIM:612001
HP:0000356	Abnormality of the outer ear	10765	KDM5B	OMIM:618109
HP:0000356	Abnormality of the outer ear	271	AMPD2	OMIM:615809
HP:0000356	Abnormality of the outer ear	8289	ARID1A	OMIM:614607
HP:0000356	Abnormality of the outer ear	5351	PLOD1	ORPHA:1900
HP:0000356	Abnormality of the outer ear	79087	ALG12	OMIM:607143
HP:0000356	Abnormality of the outer ear	79087	ALG12	ORPHA:79324
HP:0000356	Abnormality of the outer ear	6045	RNF2	OMIM:619460
HP:0000356	Abnormality of the outer ear	23347	SMCHD1	OMIM:603457
HP:0000356	Abnormality of the outer ear	9758	FRMPD4	OMIM:300983
HP:0000356	Abnormality of the outer ear	79813	EHMT1	OMIM:610253
HP:0000356	Abnormality of the outer ear	71	ACTG1	OMIM:614583
HP:0000356	Abnormality of the outer ear	30813	VSX1	OMIM:614195
HP:0000356	Abnormality of the outer ear	4222	MEOX1	OMIM:214300
HP:0000356	Abnormality of the outer ear	1749	DLX5	OMIM:183600
HP:0000356	Abnormality of the outer ear	23065	EMC1	ORPHA:480898
HP:0000356	Abnormality of the outer ear	23299	BICD2	OMIM:618291
HP:0000356	Abnormality of the outer ear	7466	WFS1	ORPHA:411590
HP:0000356	Abnormality of the outer ear	2108	ETFA	OMIM:231680
HP:0000356	Abnormality of the outer ear	2109	ETFB	OMIM:231680
HP:0000356	Abnormality of the outer ear	2110	ETFDH	OMIM:231680
HP:0000356	Abnormality of the outer ear	6711	SPTBN1	OMIM:619475
HP:0000356	Abnormality of the outer ear	9780	PIEZO1	OMIM:616843
HP:0000356	Abnormality of the outer ear	23291	FBXW11	OMIM:618914
HP:0000356	Abnormality of the outer ear	79971	WLS	OMIM:619648
HP:0000356	Abnormality of the outer ear	84720	PIGO	ORPHA:247262
HP:0000356	Abnormality of the outer ear	284098	PIGW	ORPHA:247262
HP:0000356	Abnormality of the outer ear	27315	PGAP2	ORPHA:247262
HP:0000356	Abnormality of the outer ear	1663	DDX11	OMIM:613398
HP:0000356	Abnormality of the outer ear	5455	POU3F3	OMIM:618604
HP:0000356	Abnormality of the outer ear	5792	PTPRF	OMIM:616001
HP:0000356	Abnormality of the outer ear	51099	ABHD5	ORPHA:98907
HP:0000356	Abnormality of the outer ear	55343	SLC35C1	ORPHA:99843
HP:0000356	Abnormality of the outer ear	1281	COL3A1	OMIM:130050
HP:0000356	Abnormality of the outer ear	55628	ZNF407	OMIM:619557
HP:0000356	Abnormality of the outer ear	9719	ADAMTSL2	OMIM:231050
HP:0000356	Abnormality of the outer ear	1289	COL5A1	OMIM:130000
HP:0000356	Abnormality of the outer ear	23431	AP4E1	OMIM:613744
HP:0000356	Abnormality of the outer ear	9230	RAB11B	OMIM:617807
HP:0000356	Abnormality of the outer ear	9949	AMMECR1	OMIM:300990
HP:0000356	Abnormality of the outer ear	10771	ZMYND11	OMIM:616083
HP:0000356	Abnormality of the outer ear	727857	BHLHA9	ORPHA:3329
HP:0000356	Abnormality of the outer ear	738	VPS51	OMIM:618606
HP:0000356	Abnormality of the outer ear	93986	FOXP2	ORPHA:209908
HP:0000356	Abnormality of the outer ear	5277	PIGA	OMIM:300868
HP:0000356	Abnormality of the outer ear	7043	TGFB3	OMIM:615582
HP:0000356	Abnormality of the outer ear	11113	CIT	OMIM:617090
HP:0000356	Abnormality of the outer ear	11253	MAN1B1	ORPHA:397941
HP:0000356	Abnormality of the outer ear	11253	MAN1B1	OMIM:614202
HP:0000356	Abnormality of the outer ear	27316	RBMX	OMIM:300238
HP:0000356	Abnormality of the outer ear	340533	NEXMIF	OMIM:300912
HP:0000356	Abnormality of the outer ear	1139	CHRNA7	ORPHA:199318
HP:0000356	Abnormality of the outer ear	23135	KDM6B	OMIM:618505
HP:0000356	Abnormality of the outer ear	1161	ERCC8	ORPHA:90324
HP:0000356	Abnormality of the outer ear	1161	ERCC8	ORPHA:90321
HP:0000356	Abnormality of the outer ear	1161	ERCC8	ORPHA:90322
HP:0000356	Abnormality of the outer ear	2074	ERCC6	ORPHA:90324
HP:0000356	Abnormality of the outer ear	2074	ERCC6	ORPHA:90321
HP:0000356	Abnormality of the outer ear	2074	ERCC6	ORPHA:90322
HP:0000356	Abnormality of the outer ear	781	CACNA2D1	OMIM:620149
HP:0000356	Abnormality of the outer ear	91801	ALKBH8	OMIM:618504
HP:0000356	Abnormality of the outer ear	84942	WDR73	OMIM:251300
HP:0000356	Abnormality of the outer ear	84942	WDR73	ORPHA:2065
HP:0000356	Abnormality of the outer ear	1134	CHRNA1	OMIM:608930
HP:0000356	Abnormality of the outer ear	4047	LSS	ORPHA:2850
HP:0000356	Abnormality of the outer ear	197	AHSG	ORPHA:2850
HP:0000356	Abnormality of the outer ear	3694	ITGB6	ORPHA:2850
HP:0000356	Abnormality of the outer ear	2072	ERCC4	ORPHA:90321
HP:0000356	Abnormality of the outer ear	10084	PQBP1	ORPHA:93950
HP:0000356	Abnormality of the outer ear	10084	PQBP1	ORPHA:93945
HP:0000356	Abnormality of the outer ear	10084	PQBP1	OMIM:309500
HP:0000356	Abnormality of the outer ear	4983	OPHN1	OMIM:300486
HP:0000356	Abnormality of the outer ear	10479	SLC9A6	OMIM:300243
HP:0000356	Abnormality of the outer ear	10479	SLC9A6	ORPHA:85278
HP:0000356	Abnormality of the outer ear	10300	KATNB1	OMIM:616212
HP:0000356	Abnormality of the outer ear	7552	ZNF711	OMIM:300803
HP:0000356	Abnormality of the outer ear	10730	YME1L1	OMIM:617302
HP:0000356	Abnormality of the outer ear	55690	PACS1	OMIM:615009
HP:0000356	Abnormality of the outer ear	55690	PACS1	ORPHA:329224
HP:0000356	Abnormality of the outer ear	80055	PGAP1	OMIM:615802
HP:0000356	Abnormality of the outer ear	84520	GON7	OMIM:619603
HP:0000356	Abnormality of the outer ear	5818	NECTIN1	ORPHA:3253
HP:0000356	Abnormality of the outer ear	6023	RMRP	ORPHA:175
HP:0000356	Abnormality of the outer ear	51360	MBTPS2	ORPHA:2273
HP:0000356	Abnormality of the outer ear	284058	KANSL1	ORPHA:363958
HP:0000356	Abnormality of the outer ear	284058	KANSL1	ORPHA:363965
HP:0000356	Abnormality of the outer ear	284058	KANSL1	OMIM:610443
HP:0000356	Abnormality of the outer ear	25885	POLR1A	OMIM:616462
HP:0000356	Abnormality of the outer ear	29940	DSE	ORPHA:2953
HP:0000356	Abnormality of the outer ear	9326	ZNHIT3	ORPHA:2836
HP:0000356	Abnormality of the outer ear	547	KIF1A	ORPHA:2836
HP:0000356	Abnormality of the outer ear	114034	TOE1	OMIM:614969
HP:0000356	Abnormality of the outer ear	114034	TOE1	ORPHA:284339
HP:0000356	Abnormality of the outer ear	83550	GPR101	ORPHA:963
HP:0000356	Abnormality of the outer ear	9049	AIP	ORPHA:963
HP:0000356	Abnormality of the outer ear	10555	AGPAT2	OMIM:608594
HP:0000356	Abnormality of the outer ear	23096	IQSEC2	ORPHA:397933
HP:0000356	Abnormality of the outer ear	8726	EED	OMIM:617561
HP:0000356	Abnormality of the outer ear	8726	EED	ORPHA:3447
HP:0000356	Abnormality of the outer ear	1193	CLIC2	ORPHA:324410
HP:0000356	Abnormality of the outer ear	1193	CLIC2	OMIM:300886
HP:0000356	Abnormality of the outer ear	55714	TENM3	OMIM:615145
HP:0000356	Abnormality of the outer ear	2783	GNB2	OMIM:619503
HP:0000356	Abnormality of the outer ear	165	AEBP1	ORPHA:536532
HP:0000356	Abnormality of the outer ear	165	AEBP1	OMIM:618000
HP:0000356	Abnormality of the outer ear	5373	PMM2	OMIM:212065
HP:0000356	Abnormality of the outer ear	5373	PMM2	ORPHA:79318
HP:0000356	Abnormality of the outer ear	26227	PHGDH	OMIM:256520
HP:0000356	Abnormality of the outer ear	388662	SLC6A17	ORPHA:457212
HP:0000356	Abnormality of the outer ear	388662	SLC6A17	OMIM:616269
HP:0000356	Abnormality of the outer ear	55773	TBC1D23	OMIM:617695
HP:0000356	Abnormality of the outer ear	5063	PAK3	OMIM:300558
HP:0000356	Abnormality of the outer ear	8905	AP1S2	ORPHA:85335
HP:0000356	Abnormality of the outer ear	6804	STX1A	ORPHA:904
HP:0000356	Abnormality of the outer ear	7461	CLIP2	ORPHA:904
HP:0000356	Abnormality of the outer ear	84277	DNAJC30	ORPHA:904
HP:0000356	Abnormality of the outer ear	8468	FKBP6	ORPHA:904
HP:0000356	Abnormality of the outer ear	5982	RFC2	ORPHA:904
HP:0000356	Abnormality of the outer ear	2969	GTF2I	ORPHA:904
HP:0000356	Abnormality of the outer ear	3984	LIMK1	ORPHA:904
HP:0000356	Abnormality of the outer ear	9569	GTF2IRD1	ORPHA:904
HP:0000356	Abnormality of the outer ear	155382	VPS37D	ORPHA:904
HP:0000356	Abnormality of the outer ear	155368	METTL27	ORPHA:904
HP:0000356	Abnormality of the outer ear	114049	BUD23	ORPHA:904
HP:0000356	Abnormality of the outer ear	7458	EIF4H	ORPHA:904
HP:0000356	Abnormality of the outer ear	84163	GTF2IRD2	ORPHA:904
HP:0000356	Abnormality of the outer ear	9275	BCL7B	ORPHA:904
HP:0000356	Abnormality of the outer ear	26608	TBL2	ORPHA:904
HP:0000356	Abnormality of the outer ear	653361	NCF1	ORPHA:904
HP:0000356	Abnormality of the outer ear	135886	TMEM270	ORPHA:904
HP:0000356	Abnormality of the outer ear	9031	BAZ1B	ORPHA:904
HP:0000356	Abnormality of the outer ear	116115	ZNF526	OMIM:619877
HP:0000356	Abnormality of the outer ear	5728	PTEN	ORPHA:109
HP:0000356	Abnormality of the outer ear	5728	PTEN	ORPHA:744
HP:0000356	Abnormality of the outer ear	81031	SLC2A10	ORPHA:3342
HP:0000356	Abnormality of the outer ear	81031	SLC2A10	OMIM:208050
HP:0000356	Abnormality of the outer ear	6134	RPL10	ORPHA:459070
HP:0000356	Abnormality of the outer ear	23345	SYNE1	ORPHA:319332
HP:0000356	Abnormality of the outer ear	3675	ITGA3	OMIM:614748
HP:0000356	Abnormality of the outer ear	5727	PTCH1	OMIM:610828
HP:0000356	Abnormality of the outer ear	2736	GLI2	OMIM:610829
HP:0000356	Abnormality of the outer ear	79759	ZNF668	OMIM:620194
HP:0000356	Abnormality of the outer ear	26137	ZBTB20	OMIM:259050
HP:0000356	Abnormality of the outer ear	26137	ZBTB20	ORPHA:3042
HP:0000356	Abnormality of the outer ear	9158	FIBP	OMIM:617107
HP:0000356	Abnormality of the outer ear	9158	FIBP	ORPHA:500095
HP:0000356	Abnormality of the outer ear	182	JAG1	OMIM:118450
HP:0000356	Abnormality of the outer ear	6901	TAFAZZIN	OMIM:302060
HP:0000356	Abnormality of the outer ear	5832	ALDH18A1	OMIM:219150
HP:0000356	Abnormality of the outer ear	84919	PPP1R15B	OMIM:616817
HP:0000356	Abnormality of the outer ear	84919	PPP1R15B	ORPHA:391408
HP:0000356	Abnormality of the outer ear	5295	PIK3R1	OMIM:269880
HP:0000356	Abnormality of the outer ear	8573	CASK	ORPHA:163937
HP:0000356	Abnormality of the outer ear	8573	CASK	OMIM:300749
HP:0000356	Abnormality of the outer ear	8242	KDM5C	OMIM:300534
HP:0000356	Abnormality of the outer ear	23007	PLCH1	OMIM:619895
HP:0000356	Abnormality of the outer ear	254065	BRWD3	OMIM:300659
HP:0000356	Abnormality of the outer ear	2146	EZH2	OMIM:277590
HP:0000356	Abnormality of the outer ear	2146	EZH2	ORPHA:3447
HP:0000356	Abnormality of the outer ear	50945	TBX22	ORPHA:921
HP:0000356	Abnormality of the outer ear	50945	TBX22	OMIM:302905
HP:0000356	Abnormality of the outer ear	23512	SUZ12	ORPHA:3447
HP:0000356	Abnormality of the outer ear	10195	ALG3	OMIM:601110
HP:0000356	Abnormality of the outer ear	7546	ZIC2	OMIM:609637
HP:0000356	Abnormality of the outer ear	58497	PRUNE1	OMIM:617481
HP:0000356	Abnormality of the outer ear	84188	FAR1	OMIM:616154
HP:0000356	Abnormality of the outer ear	84188	FAR1	ORPHA:438178
HP:0000356	Abnormality of the outer ear	7227	TRPS1	OMIM:190350
HP:0000356	Abnormality of the outer ear	7227	TRPS1	ORPHA:77258
HP:0000356	Abnormality of the outer ear	1642	DDB1	OMIM:619426
HP:0000356	Abnormality of the outer ear	7319	UBE2A	ORPHA:163956
HP:0000356	Abnormality of the outer ear	8260	NAA10	ORPHA:276432
HP:0000356	Abnormality of the outer ear	8260	NAA10	OMIM:300855
HP:0000356	Abnormality of the outer ear	9759	HDAC4	OMIM:619797
HP:0000356	Abnormality of the outer ear	56896	DPYSL5	OMIM:619435
HP:0000356	Abnormality of the outer ear	4683	NBN	OMIM:251260
HP:0000356	Abnormality of the outer ear	4683	NBN	ORPHA:647
HP:0000356	Abnormality of the outer ear	85358	SHANK3	OMIM:606232
HP:0000356	Abnormality of the outer ear	85358	SHANK3	ORPHA:48652
HP:0000356	Abnormality of the outer ear	57520	HECW2	OMIM:617268
HP:0000356	Abnormality of the outer ear	113179	ADAT3	ORPHA:363528
HP:0000356	Abnormality of the outer ear	9342	SNAP29	ORPHA:66631
HP:0000356	Abnormality of the outer ear	4953	ODC1	ORPHA:544488
HP:0000356	Abnormality of the outer ear	1363	CPE	OMIM:619326
HP:0000356	Abnormality of the outer ear	26128	KIFBP	ORPHA:66629
HP:0000356	Abnormality of the outer ear	54820	NDE1	OMIM:605013
HP:0000356	Abnormality of the outer ear	2720	GLB1	ORPHA:79255
HP:0000356	Abnormality of the outer ear	3417	IDH1	ORPHA:99646
HP:0000356	Abnormality of the outer ear	6904	TBCD	ORPHA:496641
HP:0000356	Abnormality of the outer ear	4810	NHS	OMIM:302350
HP:0000356	Abnormality of the outer ear	4204	MECP2	OMIM:300055
HP:0000356	Abnormality of the outer ear	4204	MECP2	OMIM:300260
HP:0000356	Abnormality of the outer ear	23221	RHOBTB2	OMIM:618004
HP:0000356	Abnormality of the outer ear	2332	FMR1	ORPHA:449291
HP:0000356	Abnormality of the outer ear	2332	FMR1	OMIM:300624
HP:0000356	Abnormality of the outer ear	24140	FTSJ1	OMIM:309549
HP:0000356	Abnormality of the outer ear	4125	MAN2B1	OMIM:248500
HP:0000356	Abnormality of the outer ear	92255	LMBRD2	OMIM:619694
HP:0000356	Abnormality of the outer ear	8831	SYNGAP1	ORPHA:544254
HP:0000356	Abnormality of the outer ear	3643	INSR	OMIM:246200
HP:0000356	Abnormality of the outer ear	3643	INSR	ORPHA:769
HP:0000356	Abnormality of the outer ear	5604	MAP2K1	ORPHA:1340
HP:0000356	Abnormality of the outer ear	5605	MAP2K2	ORPHA:1340
HP:0000356	Abnormality of the outer ear	259232	NALCN	OMIM:615419
HP:0000356	Abnormality of the outer ear	23389	MED13L	ORPHA:369891
HP:0000356	Abnormality of the outer ear	23389	MED13L	OMIM:616789
HP:0000356	Abnormality of the outer ear	6821	SUOX	OMIM:272300
HP:0000356	Abnormality of the outer ear	23258	DENND5A	OMIM:617281
HP:0000356	Abnormality of the outer ear	2068	ERCC2	OMIM:601675
HP:0000356	Abnormality of the outer ear	80185	TTI2	OMIM:615541
HP:0000356	Abnormality of the outer ear	80185	TTI2	ORPHA:391307
HP:0000356	Abnormality of the outer ear	3758	KCNJ1	OMIM:241200
HP:0000356	Abnormality of the outer ear	92949	ADAMTSL1	ORPHA:521445
HP:0000356	Abnormality of the outer ear	57187	THOC2	ORPHA:457240
HP:0000356	Abnormality of the outer ear	760	CA2	ORPHA:2785
HP:0000356	Abnormality of the outer ear	23476	BRD4	ORPHA:199
HP:0000356	Abnormality of the outer ear	25836	NIPBL	ORPHA:199
HP:0000356	Abnormality of the outer ear	55869	HDAC8	ORPHA:199
HP:0000356	Abnormality of the outer ear	5885	RAD21	ORPHA:199
HP:0000356	Abnormality of the outer ear	9791	PTDSS1	OMIM:151050
HP:0000356	Abnormality of the outer ear	9791	PTDSS1	ORPHA:2658
HP:0000356	Abnormality of the outer ear	8943	AP3D1	OMIM:617050
HP:0000356	Abnormality of the outer ear	2892	GRIA3	ORPHA:364028
HP:0000356	Abnormality of the outer ear	348180	CTU2	OMIM:618142
HP:0000356	Abnormality of the outer ear	26580	BSCL2	OMIM:269700
HP:0000356	Abnormality of the outer ear	1859	DYRK1A	OMIM:614104
HP:0000356	Abnormality of the outer ear	1861	TOR1A	OMIM:618947
HP:0000356	Abnormality of the outer ear	22931	RAB18	OMIM:614222
HP:0000356	Abnormality of the outer ear	22931	RAB18	ORPHA:2510
HP:0000356	Abnormality of the outer ear	10283	CWC27	OMIM:250410
HP:0000356	Abnormality of the outer ear	10283	CWC27	ORPHA:166035
HP:0000356	Abnormality of the outer ear	6513	SLC2A1	ORPHA:168577
HP:0000356	Abnormality of the outer ear	207	AKT1	ORPHA:744
HP:0000356	Abnormality of the outer ear	136647	MPLKIP	OMIM:234050
HP:0000356	Abnormality of the outer ear	7204	TRIO	OMIM:617061
HP:0000356	Abnormality of the outer ear	6872	TAF1	OMIM:300966
HP:0000356	Abnormality of the outer ear	54870	QRICH1	OMIM:617982
HP:0000356	Abnormality of the outer ear	2893	GRIA4	OMIM:617864
HP:0000356	Abnormality of the outer ear	93587	TRMT10A	ORPHA:391408
HP:0000356	Abnormality of the outer ear	6748	SSR4	ORPHA:370927
HP:0000356	Abnormality of the outer ear	6748	SSR4	OMIM:300934
HP:0000356	Abnormality of the outer ear	4256	MGP	OMIM:245150
HP:0000356	Abnormality of the outer ear	153241	CEP120	OMIM:616300
HP:0000356	Abnormality of the outer ear	440	ASNS	OMIM:615574
HP:0000356	Abnormality of the outer ear	55733	HHAT	ORPHA:1422
HP:0000356	Abnormality of the outer ear	11043	MID2	OMIM:300928
HP:0000356	Abnormality of the outer ear	4693	NDP	ORPHA:649
HP:0000356	Abnormality of the outer ear	128637	TBC1D20	ORPHA:2510
HP:0000356	Abnormality of the outer ear	9562	MINPP1	ORPHA:284339
HP:0000356	Abnormality of the outer ear	55553	SOX6	OMIM:618971
HP:0000356	Abnormality of the outer ear	51109	RDH11	ORPHA:436245
HP:0000356	Abnormality of the outer ear	523	ATP6V1A	OMIM:617403
HP:0000356	Abnormality of the outer ear	55644	OSGEP	ORPHA:2065
HP:0000356	Abnormality of the outer ear	57122	NUP107	ORPHA:2065
HP:0000356	Abnormality of the outer ear	55746	NUP133	ORPHA:2065
HP:0000356	Abnormality of the outer ear	112858	TP53RK	ORPHA:2065
HP:0000356	Abnormality of the outer ear	8270	LAGE3	ORPHA:2065
HP:0000356	Abnormality of the outer ear	27445	PCLO	OMIM:608027
HP:0000356	Abnormality of the outer ear	5696	PSMB8	OMIM:256040
HP:0000356	Abnormality of the outer ear	25974	MMACHC	OMIM:277400
HP:0000356	Abnormality of the outer ear	5052	PRDX1	OMIM:277400
HP:0000356	Abnormality of the outer ear	9990	SLC12A6	OMIM:218000
HP:0000356	Abnormality of the outer ear	57167	SALL4	ORPHA:233
HP:0000356	Abnormality of the outer ear	9935	MAFB	ORPHA:233
HP:0000356	Abnormality of the outer ear	1123	CHN1	ORPHA:233
HP:0000356	Abnormality of the outer ear	64840	PORCN	OMIM:305600
HP:0000356	Abnormality of the outer ear	51434	ANAPC7	OMIM:619699
HP:0000356	Abnormality of the outer ear	1909	EDNRA	OMIM:616367
HP:0000356	Abnormality of the outer ear	6154	RPL26	OMIM:614900
HP:0000356	Abnormality of the outer ear	8626	TP63	OMIM:129400
HP:0000356	Abnormality of the outer ear	3166	HMX1	OMIM:612109
HP:0000356	Abnormality of the outer ear	147912	SIX5	ORPHA:107
HP:0000356	Abnormality of the outer ear	6558	SLC12A2	OMIM:619080
HP:0000356	Abnormality of the outer ear	1294	COL7A1	ORPHA:79409
HP:0000356	Abnormality of the outer ear	3199	HOXA2	OMIM:612290
HP:0000356	Abnormality of the outer ear	79633	FAT4	OMIM:615546
HP:0000356	Abnormality of the outer ear	53834	FGFRL1	OMIM:194190
HP:0000356	Abnormality of the outer ear	1487	CTBP1	OMIM:194190
HP:0000356	Abnormality of the outer ear	3954	LETM1	OMIM:194190
HP:0000356	Abnormality of the outer ear	7468	NSD2	OMIM:194190
HP:0000356	Abnormality of the outer ear	10815	CPLX1	OMIM:194190
HP:0000356	Abnormality of the outer ear	50964	SOST	ORPHA:1513
HP:0000356	Abnormality of the outer ear	26235	FBXL4	OMIM:615471
HP:0000356	Abnormality of the outer ear	9820	CUL7	ORPHA:2616
HP:0000356	Abnormality of the outer ear	23363	OBSL1	ORPHA:2616
HP:0000356	Abnormality of the outer ear	23363	OBSL1	OMIM:612921
HP:0000356	Abnormality of the outer ear	83987	CCDC8	ORPHA:2616
HP:0000356	Abnormality of the outer ear	83987	CCDC8	OMIM:614205
HP:0000356	Abnormality of the outer ear	283120	H19	ORPHA:231140
HP:0000356	Abnormality of the outer ear	4038	LRP4	ORPHA:3258
HP:0000356	Abnormality of the outer ear	324	APC	ORPHA:3258
HP:0000356	Abnormality of the outer ear	6197	RPS6KA3	OMIM:303600
HP:0000356	Abnormality of the outer ear	6197	RPS6KA3	ORPHA:192
HP:0000356	Abnormality of the outer ear	3340	NDST1	OMIM:616116
HP:0000356	Abnormality of the outer ear	649	BMP1	OMIM:614856
HP:0000356	Abnormality of the outer ear	7809	BSND	ORPHA:89938
HP:0000356	Abnormality of the outer ear	1188	CLCNKB	ORPHA:89938
HP:0000356	Abnormality of the outer ear	1187	CLCNKA	ORPHA:89938
HP:0000356	Abnormality of the outer ear	55621	TRMT1	OMIM:618302
HP:0000356	Abnormality of the outer ear	80067	DCAF17	ORPHA:3464
HP:0000356	Abnormality of the outer ear	80067	DCAF17	OMIM:241080
HP:0000356	Abnormality of the outer ear	10907	TXNL4A	OMIM:608572
HP:0000356	Abnormality of the outer ear	163175	LGI4	OMIM:617468
HP:0000356	Abnormality of the outer ear	641	BLM	OMIM:210900
HP:0000356	Abnormality of the outer ear	200424	TET3	OMIM:618798
HP:0000356	Abnormality of the outer ear	833	CARS1	ORPHA:33364
HP:0000356	Abnormality of the outer ear	7737	RNF113A	ORPHA:33364
HP:0000356	Abnormality of the outer ear	6897	TARS1	ORPHA:33364
HP:0000356	Abnormality of the outer ear	2071	ERCC3	ORPHA:33364
HP:0000356	Abnormality of the outer ear	2961	GTF2E2	ORPHA:33364
HP:0000356	Abnormality of the outer ear	274	BIN1	ORPHA:169186
HP:0000356	Abnormality of the outer ear	10290	SPEG	ORPHA:169186
HP:0000356	Abnormality of the outer ear	7273	TTN	ORPHA:169186
HP:0000356	Abnormality of the outer ear	1291	COL6A1	OMIM:254090
HP:0000356	Abnormality of the outer ear	1292	COL6A2	OMIM:254090
HP:0000356	Abnormality of the outer ear	1293	COL6A3	OMIM:254090
HP:0000356	Abnormality of the outer ear	16	AARS1	OMIM:619691
HP:0000356	Abnormality of the outer ear	9496	TBX4	ORPHA:261279
HP:0000356	Abnormality of the outer ear	79576	NKAP	OMIM:301039
HP:0000356	Abnormality of the outer ear	51305	KCNK9	ORPHA:166108
HP:0000356	Abnormality of the outer ear	2707	GJB3	ORPHA:317
HP:0000356	Abnormality of the outer ear	2531	KDSR	ORPHA:317
HP:0000356	Abnormality of the outer ear	127534	GJB4	ORPHA:317
HP:0000356	Abnormality of the outer ear	1213	CLTC	OMIM:617854
HP:0000356	Abnormality of the outer ear	5293	PIK3CD	ORPHA:221139
HP:0000356	Abnormality of the outer ear	90417	KNSTRN	ORPHA:221139
HP:0000356	Abnormality of the outer ear	90416	CCDC32	OMIM:619123
HP:0000356	Abnormality of the outer ear	3832	KIF11	ORPHA:2526
HP:0000356	Abnormality of the outer ear	3832	KIF11	OMIM:152950
HP:0000356	Abnormality of the outer ear	23529	CLCF1	OMIM:610313
HP:0000356	Abnormality of the outer ear	1804	DPP6	ORPHA:2514
HP:0000356	Abnormality of the outer ear	4001	LMNB1	ORPHA:2514
HP:0000356	Abnormality of the outer ear	85378	TUBGCP6	ORPHA:2518
HP:0000356	Abnormality of the outer ear	27229	TUBGCP4	ORPHA:2518
HP:0000356	Abnormality of the outer ear	4750	NEK1	ORPHA:2751
HP:0000356	Abnormality of the outer ear	57647	DHX37	OMIM:618731
HP:0000356	Abnormality of the outer ear	57728	WDR19	OMIM:614378
HP:0000356	Abnormality of the outer ear	10844	TUBGCP2	OMIM:618737
HP:0000356	Abnormality of the outer ear	10194	TSHZ1	OMIM:607842
HP:0000356	Abnormality of the outer ear	2065	ERBB3	OMIM:243180
HP:0000356	Abnormality of the outer ear	79796	ALG9	ORPHA:79328
HP:0000356	Abnormality of the outer ear	79796	ALG9	OMIM:263210
HP:0000356	Abnormality of the outer ear	79718	TBL1XR1	OMIM:602342
HP:0000356	Abnormality of the outer ear	23556	PIGN	OMIM:614080
HP:0000356	Abnormality of the outer ear	23556	PIGN	ORPHA:280633
HP:0000356	Abnormality of the outer ear	4677	NARS1	OMIM:619092
HP:0000356	Abnormality of the outer ear	30000	TNPO2	OMIM:619556
HP:0000356	Abnormality of the outer ear	83696	TRAPPC9	ORPHA:352530
HP:0000356	Abnormality of the outer ear	202018	TAPT1	OMIM:616897
HP:0000356	Abnormality of the outer ear	10584	COLEC10	ORPHA:293843
HP:0000356	Abnormality of the outer ear	5648	MASP1	ORPHA:293843
HP:0000356	Abnormality of the outer ear	78989	COLEC11	ORPHA:293843
HP:0000356	Abnormality of the outer ear	526	ATP6V1B2	ORPHA:3473
HP:0000356	Abnormality of the outer ear	3756	KCNH1	ORPHA:3473
HP:0000356	Abnormality of the outer ear	3782	KCNN3	ORPHA:3473
HP:0000356	Abnormality of the outer ear	6299	SALL1	OMIM:107480
HP:0000356	Abnormality of the outer ear	5167	ENPP1	ORPHA:51608
HP:0000356	Abnormality of the outer ear	368	ABCC6	ORPHA:51608
HP:0000356	Abnormality of the outer ear	2719	GPC3	OMIM:312870
HP:0000356	Abnormality of the outer ear	2239	GPC4	OMIM:312870
HP:0000356	Abnormality of the outer ear	1028	CDKN1C	OMIM:130650
HP:0000356	Abnormality of the outer ear	10984	KCNQ1OT1	OMIM:130650
HP:0000356	Abnormality of the outer ear	3481	IGF2	OMIM:130650
HP:0000356	Abnormality of the outer ear	3784	KCNQ1	OMIM:130650
HP:0000356	Abnormality of the outer ear	1371	CPOX	ORPHA:79273
HP:0000356	Abnormality of the outer ear	5339	PLEC	ORPHA:158684
HP:0000356	Abnormality of the outer ear	5339	PLEC	OMIM:612138
HP:0000356	Abnormality of the outer ear	3691	ITGB4	ORPHA:158684
HP:0000356	Abnormality of the outer ear	57589	RIC1	OMIM:618761
HP:0000356	Abnormality of the outer ear	3190	HNRNPK	OMIM:616580
HP:0000356	Abnormality of the outer ear	815	CAMK2A	OMIM:617798
HP:0000356	Abnormality of the outer ear	51199	NIN	OMIM:614851
HP:0000356	Abnormality of the outer ear	51199	NIN	ORPHA:319675
HP:0000356	Abnormality of the outer ear	8642	DCHS1	OMIM:601390
HP:0000356	Abnormality of the outer ear	8642	DCHS1	ORPHA:314679
HP:0000356	Abnormality of the outer ear	175	AGA	ORPHA:93
HP:0000356	Abnormality of the outer ear	55719	SLF2	OMIM:620184
HP:0000356	Abnormality of the outer ear	81887	LAS1L	ORPHA:3459
HP:0000356	Abnormality of the outer ear	5422	POLA1	ORPHA:163976
HP:0000356	Abnormality of the outer ear	5422	POLA1	OMIM:301030
HP:0000356	Abnormality of the outer ear	6949	TCOF1	OMIM:154500
HP:0000356	Abnormality of the outer ear	6949	TCOF1	ORPHA:861
HP:0000356	Abnormality of the outer ear	4488	MSX2	OMIM:168550
HP:0000356	Abnormality of the outer ear	9533	POLR1C	OMIM:248390
HP:0000356	Abnormality of the outer ear	9533	POLR1C	ORPHA:861
HP:0000356	Abnormality of the outer ear	3313	HSPA9	OMIM:616854
HP:0000356	Abnormality of the outer ear	3097	HIVEP2	OMIM:616977
HP:0000356	Abnormality of the outer ear	3209	HOXA13	ORPHA:2438
HP:0000356	Abnormality of the outer ear	2186	BPTF	ORPHA:529962
HP:0000356	Abnormality of the outer ear	84172	POLR1B	ORPHA:861
HP:0000356	Abnormality of the outer ear	5058	PAK1	OMIM:618158
HP:0000356	Abnormality of the outer ear	3655	ITGA6	OMIM:619817
HP:0000356	Abnormality of the outer ear	7388	UQCRH	OMIM:620137
HP:0000356	Abnormality of the outer ear	1491	CTH	ORPHA:212
HP:0000356	Abnormality of the outer ear	286	ANK1	ORPHA:251066
HP:0000356	Abnormality of the outer ear	672	BRCA1	ORPHA:84
HP:0000356	Abnormality of the outer ear	10459	MAD2L2	ORPHA:84
HP:0000356	Abnormality of the outer ear	7516	XRCC2	ORPHA:84
HP:0000356	Abnormality of the outer ear	29089	UBE2T	ORPHA:84
HP:0000356	Abnormality of the outer ear	675	BRCA2	ORPHA:84
HP:0000356	Abnormality of the outer ear	2175	FANCA	ORPHA:84
HP:0000356	Abnormality of the outer ear	2176	FANCC	ORPHA:84
HP:0000356	Abnormality of the outer ear	2178	FANCE	ORPHA:84
HP:0000356	Abnormality of the outer ear	2188	FANCF	ORPHA:84
HP:0000356	Abnormality of the outer ear	2189	FANCG	ORPHA:84
HP:0000356	Abnormality of the outer ear	5888	RAD51	ORPHA:84
HP:0000356	Abnormality of the outer ear	5889	RAD51C	ORPHA:84
HP:0000356	Abnormality of the outer ear	55159	RFWD3	ORPHA:84
HP:0000356	Abnormality of the outer ear	83990	BRIP1	ORPHA:84
HP:0000356	Abnormality of the outer ear	57697	FANCM	ORPHA:84
HP:0000356	Abnormality of the outer ear	79728	PALB2	ORPHA:84
HP:0000356	Abnormality of the outer ear	84464	SLX4	ORPHA:84
HP:0000356	Abnormality of the outer ear	55215	FANCI	ORPHA:84
HP:0000356	Abnormality of the outer ear	51339	DACT1	ORPHA:857
HP:0000356	Abnormality of the outer ear	973	CD79A	ORPHA:33110
HP:0000356	Abnormality of the outer ear	974	CD79B	ORPHA:33110
HP:0000356	Abnormality of the outer ear	3543	IGLL1	ORPHA:33110
HP:0000356	Abnormality of the outer ear	3507	IGHM	ORPHA:33110
HP:0000356	Abnormality of the outer ear	29760	BLNK	ORPHA:33110
HP:0000356	Abnormality of the outer ear	6535	SLC6A8	OMIM:300352
HP:0000356	Abnormality of the outer ear	27086	FOXP1	ORPHA:391372
HP:0000356	Abnormality of the outer ear	27161	AGO2	OMIM:619149
HP:0000356	Abnormality of the outer ear	5053	PAH	ORPHA:2209
HP:0000356	Abnormality of the outer ear	10026	PIGK	OMIM:618879
HP:0000356	Abnormality of the outer ear	10992	SF3B2	OMIM:164210
HP:0000356	Abnormality of the outer ear	51633	OTUD6B	ORPHA:505237
HP:0000356	Abnormality of the outer ear	1906	EDN1	ORPHA:137888
HP:0000356	Abnormality of the outer ear	5332	PLCB4	ORPHA:137888
HP:0000356	Abnormality of the outer ear	2773	GNAI3	ORPHA:137888
HP:0000356	Abnormality of the outer ear	7291	TWIST1	ORPHA:794
HP:0000356	Abnormality of the outer ear	2263	FGFR2	ORPHA:794
HP:0000356	Abnormality of the outer ear	2261	FGFR3	ORPHA:794
HP:0000356	Abnormality of the outer ear	3981	LIG4	ORPHA:235
HP:0000356	Abnormality of the outer ear	54888	NSUN2	ORPHA:235
HP:0000356	Abnormality of the outer ear	2290	FOXG1	ORPHA:261144
HP:0000356	Abnormality of the outer ear	22930	RAB3GAP1	ORPHA:1387
HP:0000356	Abnormality of the outer ear	25782	RAB3GAP2	ORPHA:1387
HP:0000356	Abnormality of the outer ear	284252	KCTD1	ORPHA:2036
HP:0000356	Abnormality of the outer ear	2138	EYA1	ORPHA:2792
HP:0000356	Abnormality of the outer ear	5075	PAX1	ORPHA:2792
HP:0000356	Abnormality of the outer ear	23522	KAT6B	ORPHA:3047
HP:0000356	Abnormality of the outer ear	64132	XYLT2	ORPHA:85194
HP:0000356	Abnormality of the outer ear	9343	EFTUD2	ORPHA:79113
HP:0000356	Abnormality of the outer ear	2121	EVC	ORPHA:952
HP:0000356	Abnormality of the outer ear	132884	EVC2	ORPHA:952
HP:0000356	Abnormality of the outer ear	8241	RBM10	ORPHA:2886
HP:0000356	Abnormality of the outer ear	10157	AASS	ORPHA:2203
HP:0000356	Abnormality of the outer ear	29920	PYCR2	OMIM:616420
HP:0000356	Abnormality of the outer ear	2245	FGD1	OMIM:305400
HP:0000356	Abnormality of the outer ear	23013	SPEN	OMIM:619312
HP:0000356	Abnormality of the outer ear	10785	WDR4	OMIM:618346
HP:0000356	Abnormality of the outer ear	9320	TRIP12	OMIM:617752
HP:0000356	Abnormality of the outer ear	55023	PHIP	OMIM:617991
HP:0000356	Abnormality of the outer ear	4853	NOTCH2	OMIM:102500
HP:0000356	Abnormality of the outer ear	51002	TPRKB	OMIM:617731
HP:0000356	Abnormality of the outer ear	55275	VPS53	OMIM:615851
HP:0000356	Abnormality of the outer ear	1968	EIF2S3	ORPHA:85282
HP:0000356	Abnormality of the outer ear	5361	PLXNA1	OMIM:619955
HP:0000356	Abnormality of the outer ear	85440	DOCK7	ORPHA:411986
HP:0000356	Abnormality of the outer ear	93210	PGAP3	OMIM:615716
HP:0000356	Abnormality of the outer ear	84295	PHF6	ORPHA:127
HP:0000356	Abnormality of the outer ear	84992	PIGY	OMIM:616809
HP:0000356	Abnormality of the outer ear	283209	PGM2L1	OMIM:620191
HP:0000356	Abnormality of the outer ear	5290	PIK3CA	OMIM:602501
HP:0000356	Abnormality of the outer ear	51506	UFC1	OMIM:618076
HP:0000356	Abnormality of the outer ear	7358	UGDH	OMIM:618792
HP:0000356	Abnormality of the outer ear	1806	DPYD	ORPHA:1675
HP:0000356	Abnormality of the outer ear	51085	MLXIPL	OMIM:194050
HP:0000356	Abnormality of the outer ear	2006	ELN	OMIM:194050
HP:0000356	Abnormality of the outer ear	2697	GJA1	OMIM:257850
HP:0000356	Abnormality of the outer ear	51082	POLR1D	OMIM:613717
HP:0000356	Abnormality of the outer ear	7840	ALMS1	ORPHA:64
HP:0000356	Abnormality of the outer ear	3767	KCNJ11	ORPHA:79134
HP:0000356	Abnormality of the outer ear	79731	NARS2	ORPHA:79134
HP:0000356	Abnormality of the outer ear	6833	ABCC8	ORPHA:79134
HP:0000356	Abnormality of the outer ear	9361	LONP1	OMIM:600373
HP:0000356	Abnormality of the outer ear	9361	LONP1	ORPHA:1458
HP:0000356	Abnormality of the outer ear	2201	FBN2	OMIM:121050
HP:0000356	Abnormality of the outer ear	2201	FBN2	ORPHA:115
HP:0000356	Abnormality of the outer ear	2334	AFF2	ORPHA:100973
HP:0000356	Abnormality of the outer ear	91452	ACBD5	OMIM:618863
HP:0000356	Abnormality of the outer ear	157680	VPS13B	ORPHA:193
HP:0000356	Abnormality of the outer ear	11141	IL1RAPL1	OMIM:300143
HP:0000356	Abnormality of the outer ear	58508	KMT2C	ORPHA:261652
HP:0000356	Abnormality of the outer ear	6602	SMARCD1	OMIM:618779
HP:0000356	Abnormality of the outer ear	9091	PIGQ	OMIM:618548
HP:0000356	Abnormality of the outer ear	22827	PUF60	ORPHA:508488
HP:0000356	Abnormality of the outer ear	6611	SMS	ORPHA:3063
HP:0000356	Abnormality of the outer ear	54880	BCOR	OMIM:300166
HP:0000356	Abnormality of the outer ear	2571	GAD1	OMIM:619124
HP:0000356	Abnormality of the outer ear	55870	ASH1L	OMIM:617796
HP:0000356	Abnormality of the outer ear	1832	DSP	ORPHA:158687
HP:0000356	Abnormality of the outer ear	3728	JUP	ORPHA:158687
HP:0000356	Abnormality of the outer ear	6925	TCF4	ORPHA:2896
HP:0000356	Abnormality of the outer ear	151516	ASPRV1	ORPHA:313
HP:0000356	Abnormality of the outer ear	242	ALOX12B	ORPHA:313
HP:0000356	Abnormality of the outer ear	126410	CYP4F22	ORPHA:313
HP:0000356	Abnormality of the outer ear	6820	SULT2B1	ORPHA:313
HP:0000356	Abnormality of the outer ear	26154	ABCA12	ORPHA:313
HP:0000356	Abnormality of the outer ear	643418	LIPN	ORPHA:313
HP:0000356	Abnormality of the outer ear	59344	ALOXE3	ORPHA:313
HP:0000356	Abnormality of the outer ear	348938	NIPAL4	ORPHA:313
HP:0000356	Abnormality of the outer ear	121214	SDR9C7	ORPHA:313
HP:0000356	Abnormality of the outer ear	7051	TGM1	ORPHA:313
HP:0000356	Abnormality of the outer ear	6929	TCF3	OMIM:619824
HP:0000356	Abnormality of the outer ear	63932	STEEP1	OMIM:301013
HP:0000356	Abnormality of the outer ear	7025	NR2F1	OMIM:615722
HP:0000356	Abnormality of the outer ear	10220	GDF11	OMIM:619122
HP:0000356	Abnormality of the outer ear	8604	SLC25A12	OMIM:612949
HP:0000356	Abnormality of the outer ear	4123	MAN2C1	OMIM:619775
HP:0000356	Abnormality of the outer ear	117581	TWIST2	OMIM:209885
HP:0000356	Abnormality of the outer ear	117581	TWIST2	OMIM:200110
HP:0000356	Abnormality of the outer ear	6913	TBX15	OMIM:260660
HP:0000356	Abnormality of the outer ear	9968	MED12	OMIM:305450
HP:0000356	Abnormality of the outer ear	2248	FGF3	OMIM:610706
HP:0000356	Abnormality of the outer ear	54187	NANS	OMIM:610442
HP:0000356	Abnormality of the outer ear	6650	CAPN15	OMIM:619318
HP:0000356	Abnormality of the outer ear	145258	GSC	OMIM:602471
HP:0000356	Abnormality of the outer ear	3149	HMGB3	OMIM:300915
HP:0000356	Abnormality of the outer ear	8913	CACNA1G	OMIM:618087
HP:0000356	Abnormality of the outer ear	6567	SLC16A2	OMIM:300523
HP:0000356	Abnormality of the outer ear	5396	PRRX1	OMIM:202650
HP:0000356	Abnormality of the outer ear	5396	PRRX1	ORPHA:990
HP:0000356	Abnormality of the outer ear	5015	OTX2	ORPHA:990
HP:0000356	Abnormality of the outer ear	7140	TNNT3	ORPHA:1147
HP:0000356	Abnormality of the outer ear	7136	TNNI2	ORPHA:1147
HP:0000356	Abnormality of the outer ear	5702	PSMC3	OMIM:619354
HP:0000356	Abnormality of the outer ear	7317	UBA1	OMIM:301054
HP:0000356	Abnormality of the outer ear	51780	KDM3B	OMIM:618846
HP:0000356	Abnormality of the outer ear	3703	STT3A	OMIM:619714
HP:0000356	Abnormality of the outer ear	5457	POU4F1	ORPHA:314647
HP:0000356	Abnormality of the outer ear	57591	MRTFA	OMIM:618847
HP:0000356	Abnormality of the outer ear	6868	ADAM17	OMIM:614328
HP:0000356	Abnormality of the outer ear	6868	ADAM17	ORPHA:294023
HP:0000356	Abnormality of the outer ear	1956	EGFR	ORPHA:294023
HP:0000400	Macrotia	11113	CIT	OMIM:617090
HP:0000400	Macrotia	11253	MAN1B1	ORPHA:397941
HP:0000400	Macrotia	11253	MAN1B1	OMIM:614202
HP:0000400	Macrotia	27316	RBMX	OMIM:300238
HP:0000400	Macrotia	340533	NEXMIF	OMIM:300912
HP:0000400	Macrotia	1139	CHRNA7	ORPHA:199318
HP:0000400	Macrotia	23135	KDM6B	OMIM:618505
HP:0000400	Macrotia	1161	ERCC8	ORPHA:90324
HP:0000400	Macrotia	1161	ERCC8	ORPHA:90321
HP:0000400	Macrotia	1161	ERCC8	ORPHA:90322
HP:0000400	Macrotia	2074	ERCC6	ORPHA:90324
HP:0000400	Macrotia	2074	ERCC6	ORPHA:90321
HP:0000400	Macrotia	2074	ERCC6	ORPHA:90322
HP:0000400	Macrotia	781	CACNA2D1	OMIM:620149
HP:0000400	Macrotia	91801	ALKBH8	OMIM:618504
HP:0000400	Macrotia	84942	WDR73	OMIM:251300
HP:0000400	Macrotia	84942	WDR73	ORPHA:2065
HP:0000400	Macrotia	1134	CHRNA1	OMIM:608930
HP:0000400	Macrotia	4047	LSS	ORPHA:2850
HP:0000400	Macrotia	197	AHSG	ORPHA:2850
HP:0000400	Macrotia	3694	ITGB6	ORPHA:2850
HP:0000400	Macrotia	2072	ERCC4	ORPHA:90321
HP:0000400	Macrotia	10084	PQBP1	ORPHA:93950
HP:0000400	Macrotia	10084	PQBP1	ORPHA:93945
HP:0000400	Macrotia	10084	PQBP1	OMIM:309500
HP:0000400	Macrotia	2067	ERCC1	ORPHA:90322
HP:0000400	Macrotia	4983	OPHN1	OMIM:300486
HP:0000400	Macrotia	10479	SLC9A6	OMIM:300243
HP:0000400	Macrotia	10479	SLC9A6	ORPHA:85278
HP:0000400	Macrotia	10300	KATNB1	OMIM:616212
HP:0000400	Macrotia	7552	ZNF711	OMIM:300803
HP:0000400	Macrotia	10730	YME1L1	OMIM:617302
HP:0000400	Macrotia	55690	PACS1	OMIM:615009
HP:0000400	Macrotia	55690	PACS1	ORPHA:329224
HP:0000400	Macrotia	80055	PGAP1	OMIM:615802
HP:0000400	Macrotia	84520	GON7	OMIM:619603
HP:0000400	Macrotia	5818	NECTIN1	ORPHA:3253
HP:0000400	Macrotia	6023	RMRP	ORPHA:175
HP:0000400	Macrotia	51360	MBTPS2	ORPHA:2273
HP:0000400	Macrotia	64324	NSD1	OMIM:117550
HP:0000400	Macrotia	64324	NSD1	ORPHA:3447
HP:0000400	Macrotia	284058	KANSL1	ORPHA:363958
HP:0000400	Macrotia	284058	KANSL1	ORPHA:363965
HP:0000400	Macrotia	284058	KANSL1	OMIM:610443
HP:0000400	Macrotia	25885	POLR1A	OMIM:616462
HP:0000400	Macrotia	113189	CHST14	ORPHA:2953
HP:0000400	Macrotia	29940	DSE	ORPHA:2953
HP:0000400	Macrotia	9326	ZNHIT3	ORPHA:2836
HP:0000400	Macrotia	547	KIF1A	ORPHA:2836
HP:0000400	Macrotia	114034	TOE1	OMIM:614969
HP:0000400	Macrotia	114034	TOE1	ORPHA:284339
HP:0000400	Macrotia	83550	GPR101	ORPHA:963
HP:0000400	Macrotia	9049	AIP	ORPHA:963
HP:0000400	Macrotia	10555	AGPAT2	OMIM:608594
HP:0000400	Macrotia	23096	IQSEC2	ORPHA:397933
HP:0000400	Macrotia	652	BMP4	OMIM:607932
HP:0000400	Macrotia	8726	EED	OMIM:617561
HP:0000400	Macrotia	8726	EED	ORPHA:3447
HP:0000400	Macrotia	1193	CLIC2	ORPHA:324410
HP:0000400	Macrotia	1193	CLIC2	OMIM:300886
HP:0000400	Macrotia	55714	TENM3	OMIM:615145
HP:0000400	Macrotia	8036	SHOC2	ORPHA:2701
HP:0000400	Macrotia	5500	PPP1CB	ORPHA:2701
HP:0000400	Macrotia	2783	GNB2	OMIM:619503
HP:0000400	Macrotia	25942	SIN3A	OMIM:613406
HP:0000400	Macrotia	4247	MGAT2	OMIM:212066
HP:0000400	Macrotia	165	AEBP1	ORPHA:536532
HP:0000400	Macrotia	165	AEBP1	OMIM:618000
HP:0000400	Macrotia	5373	PMM2	OMIM:212065
HP:0000400	Macrotia	5373	PMM2	ORPHA:79318
HP:0000400	Macrotia	26227	PHGDH	OMIM:256520
HP:0000400	Macrotia	1182	CLCN3	OMIM:619512
HP:0000400	Macrotia	29081	METTL5	OMIM:618665
HP:0000400	Macrotia	388662	SLC6A17	ORPHA:457212
HP:0000400	Macrotia	388662	SLC6A17	OMIM:616269
HP:0000400	Macrotia	55773	TBC1D23	OMIM:617695
HP:0000400	Macrotia	5063	PAK3	OMIM:300558
HP:0000400	Macrotia	8905	AP1S2	ORPHA:85335
HP:0000400	Macrotia	51633	OTUD6B	OMIM:617452
HP:0000400	Macrotia	51633	OTUD6B	ORPHA:505237
HP:0000400	Macrotia	6804	STX1A	ORPHA:904
HP:0000400	Macrotia	7461	CLIP2	ORPHA:904
HP:0000400	Macrotia	84277	DNAJC30	ORPHA:904
HP:0000400	Macrotia	8468	FKBP6	ORPHA:904
HP:0000400	Macrotia	5982	RFC2	ORPHA:904
HP:0000400	Macrotia	2969	GTF2I	ORPHA:904
HP:0000400	Macrotia	3984	LIMK1	ORPHA:904
HP:0000400	Macrotia	9569	GTF2IRD1	ORPHA:904
HP:0000400	Macrotia	155382	VPS37D	ORPHA:904
HP:0000400	Macrotia	155368	METTL27	ORPHA:904
HP:0000400	Macrotia	114049	BUD23	ORPHA:904
HP:0000400	Macrotia	7458	EIF4H	ORPHA:904
HP:0000400	Macrotia	84163	GTF2IRD2	ORPHA:904
HP:0000400	Macrotia	9275	BCL7B	ORPHA:904
HP:0000400	Macrotia	26608	TBL2	ORPHA:904
HP:0000400	Macrotia	653361	NCF1	ORPHA:904
HP:0000400	Macrotia	135886	TMEM270	ORPHA:904
HP:0000400	Macrotia	51085	MLXIPL	ORPHA:904
HP:0000400	Macrotia	9031	BAZ1B	ORPHA:904
HP:0000400	Macrotia	2006	ELN	ORPHA:904
HP:0000400	Macrotia	116115	ZNF526	OMIM:619877
HP:0000400	Macrotia	5728	PTEN	ORPHA:109
HP:0000400	Macrotia	5728	PTEN	ORPHA:744
HP:0000400	Macrotia	81031	SLC2A10	ORPHA:3342
HP:0000400	Macrotia	81031	SLC2A10	OMIM:208050
HP:0000400	Macrotia	6134	RPL10	ORPHA:459070
HP:0000400	Macrotia	23345	SYNE1	ORPHA:319332
HP:0000400	Macrotia	3675	ITGA3	OMIM:614748
HP:0000400	Macrotia	5727	PTCH1	OMIM:610828
HP:0000400	Macrotia	2736	GLI2	OMIM:610829
HP:0000400	Macrotia	79759	ZNF668	OMIM:620194
HP:0000400	Macrotia	26137	ZBTB20	OMIM:259050
HP:0000400	Macrotia	26137	ZBTB20	ORPHA:3042
HP:0000400	Macrotia	9158	FIBP	OMIM:617107
HP:0000400	Macrotia	9158	FIBP	ORPHA:500095
HP:0000400	Macrotia	182	JAG1	OMIM:118450
HP:0000400	Macrotia	63895	PIEZO2	ORPHA:1154
HP:0000400	Macrotia	6901	TAFAZZIN	OMIM:302060
HP:0000400	Macrotia	5832	ALDH18A1	OMIM:219150
HP:0000400	Macrotia	84919	PPP1R15B	OMIM:616817
HP:0000400	Macrotia	84919	PPP1R15B	ORPHA:391408
HP:0000400	Macrotia	5295	PIK3R1	OMIM:269880
HP:0000400	Macrotia	8573	CASK	ORPHA:163937
HP:0000400	Macrotia	8573	CASK	OMIM:300749
HP:0000400	Macrotia	8242	KDM5C	OMIM:300534
HP:0000400	Macrotia	23007	PLCH1	OMIM:619895
HP:0000400	Macrotia	254065	BRWD3	OMIM:300659
HP:0000400	Macrotia	2146	EZH2	OMIM:277590
HP:0000400	Macrotia	2146	EZH2	ORPHA:3447
HP:0000400	Macrotia	50945	TBX22	ORPHA:921
HP:0000400	Macrotia	50945	TBX22	OMIM:302905
HP:0000400	Macrotia	23512	SUZ12	ORPHA:3447
HP:0000400	Macrotia	10195	ALG3	OMIM:601110
HP:0000400	Macrotia	6595	SMARCA2	OMIM:601358
HP:0000400	Macrotia	7546	ZIC2	OMIM:609637
HP:0000400	Macrotia	55023	PHIP	ORPHA:589905
HP:0000400	Macrotia	55023	PHIP	OMIM:617991
HP:0000400	Macrotia	29123	ANKRD11	OMIM:148050
HP:0000400	Macrotia	29123	ANKRD11	ORPHA:2332
HP:0000400	Macrotia	58497	PRUNE1	OMIM:617481
HP:0000400	Macrotia	22930	RAB3GAP1	OMIM:619420
HP:0000400	Macrotia	22930	RAB3GAP1	OMIM:600118
HP:0000400	Macrotia	22930	RAB3GAP1	ORPHA:2510
HP:0000400	Macrotia	84188	FAR1	OMIM:616154
HP:0000400	Macrotia	84188	FAR1	ORPHA:438178
HP:0000400	Macrotia	867	CBL	OMIM:613563
HP:0000400	Macrotia	2316	FLNA	OMIM:309350
HP:0000400	Macrotia	22907	DHX30	OMIM:617804
HP:0000400	Macrotia	7227	TRPS1	OMIM:190350
HP:0000400	Macrotia	7227	TRPS1	ORPHA:77258
HP:0000400	Macrotia	1642	DDB1	OMIM:619426
HP:0000400	Macrotia	7319	UBE2A	ORPHA:163956
HP:0000400	Macrotia	8260	NAA10	ORPHA:276432
HP:0000400	Macrotia	8260	NAA10	OMIM:300855
HP:0000400	Macrotia	8925	HERC1	OMIM:617011
HP:0000400	Macrotia	8925	HERC1	ORPHA:457359
HP:0000400	Macrotia	9759	HDAC4	OMIM:619797
HP:0000400	Macrotia	56896	DPYSL5	OMIM:619435
HP:0000400	Macrotia	4683	NBN	OMIM:251260
HP:0000400	Macrotia	4683	NBN	ORPHA:647
HP:0000400	Macrotia	6418	SET	OMIM:618106
HP:0000400	Macrotia	85358	SHANK3	OMIM:606232
HP:0000400	Macrotia	85358	SHANK3	ORPHA:48652
HP:0000400	Macrotia	6299	SALL1	OMIM:107480
HP:0000400	Macrotia	6567	SLC16A2	OMIM:300523
HP:0000400	Macrotia	1062	CENPE	OMIM:616051
HP:0000400	Macrotia	57520	HECW2	OMIM:617268
HP:0000400	Macrotia	113179	ADAT3	ORPHA:363528
HP:0000400	Macrotia	9342	SNAP29	ORPHA:66631
HP:0000400	Macrotia	23030	KDM4B	OMIM:619320
HP:0000400	Macrotia	8085	KMT2D	ORPHA:2322
HP:0000400	Macrotia	8085	KMT2D	OMIM:147920
HP:0000400	Macrotia	7403	KDM6A	ORPHA:2322
HP:0000400	Macrotia	7403	KDM6A	OMIM:300867
HP:0000400	Macrotia	7403	KDM6A	OMIM:147920
HP:0000400	Macrotia	4953	ODC1	ORPHA:544488
HP:0000400	Macrotia	1363	CPE	OMIM:619326
HP:0000400	Macrotia	26128	KIFBP	ORPHA:66629
HP:0000400	Macrotia	54820	NDE1	OMIM:605013
HP:0000400	Macrotia	2720	GLB1	ORPHA:79255
HP:0000400	Macrotia	3417	IDH1	ORPHA:99646
HP:0000400	Macrotia	6904	TBCD	ORPHA:496641
HP:0000400	Macrotia	4810	NHS	OMIM:302350
HP:0000400	Macrotia	4204	MECP2	OMIM:300055
HP:0000400	Macrotia	4204	MECP2	OMIM:300260
HP:0000400	Macrotia	23221	RHOBTB2	OMIM:618004
HP:0000400	Macrotia	2332	FMR1	ORPHA:449291
HP:0000400	Macrotia	2332	FMR1	OMIM:300624
HP:0000400	Macrotia	24140	FTSJ1	OMIM:309549
HP:0000400	Macrotia	4125	MAN2B1	OMIM:248500
HP:0000400	Macrotia	92255	LMBRD2	OMIM:619694
HP:0000400	Macrotia	8831	SYNGAP1	ORPHA:544254
HP:0000400	Macrotia	3643	INSR	OMIM:246200
HP:0000400	Macrotia	3643	INSR	ORPHA:769
HP:0000400	Macrotia	5604	MAP2K1	ORPHA:1340
HP:0000400	Macrotia	5605	MAP2K2	ORPHA:1340
HP:0000400	Macrotia	3845	KRAS	ORPHA:1340
HP:0000400	Macrotia	673	BRAF	ORPHA:1340
HP:0000400	Macrotia	29920	PYCR2	ORPHA:481152
HP:0000400	Macrotia	2138	EYA1	ORPHA:2792
HP:0000400	Macrotia	5075	PAX1	ORPHA:2792
HP:0000400	Macrotia	259232	NALCN	OMIM:615419
HP:0000400	Macrotia	23389	MED13L	ORPHA:369891
HP:0000400	Macrotia	23389	MED13L	OMIM:616789
HP:0000400	Macrotia	6821	SUOX	OMIM:272300
HP:0000400	Macrotia	23258	DENND5A	OMIM:617281
HP:0000400	Macrotia	2068	ERCC2	OMIM:601675
HP:0000400	Macrotia	80185	TTI2	OMIM:615541
HP:0000400	Macrotia	80185	TTI2	ORPHA:391307
HP:0000400	Macrotia	3758	KCNJ1	OMIM:241200
HP:0000400	Macrotia	92949	ADAMTSL1	ORPHA:521445
HP:0000400	Macrotia	57187	THOC2	ORPHA:457240
HP:0000400	Macrotia	760	CA2	ORPHA:2785
HP:0000400	Macrotia	23476	BRD4	ORPHA:199
HP:0000400	Macrotia	9126	SMC3	ORPHA:199
HP:0000400	Macrotia	8243	SMC1A	ORPHA:199
HP:0000400	Macrotia	25836	NIPBL	ORPHA:199
HP:0000400	Macrotia	55869	HDAC8	ORPHA:199
HP:0000400	Macrotia	5885	RAD21	ORPHA:199
HP:0000400	Macrotia	9791	PTDSS1	OMIM:151050
HP:0000400	Macrotia	9791	PTDSS1	ORPHA:2658
HP:0000400	Macrotia	8943	AP3D1	OMIM:617050
HP:0000400	Macrotia	5977	DPF2	OMIM:618027
HP:0000400	Macrotia	10526	IPO8	OMIM:619472
HP:0000400	Macrotia	2892	GRIA3	ORPHA:364028
HP:0000400	Macrotia	348180	CTU2	OMIM:618142
HP:0000400	Macrotia	26580	BSCL2	OMIM:269700
HP:0000400	Macrotia	25782	RAB3GAP2	OMIM:614225
HP:0000400	Macrotia	25782	RAB3GAP2	ORPHA:2510
HP:0000400	Macrotia	1859	DYRK1A	OMIM:614104
HP:0000400	Macrotia	1861	TOR1A	OMIM:618947
HP:0000400	Macrotia	22931	RAB18	OMIM:614222
HP:0000400	Macrotia	22931	RAB18	ORPHA:2510
HP:0000400	Macrotia	10283	CWC27	OMIM:250410
HP:0000400	Macrotia	10283	CWC27	ORPHA:166035
HP:0000400	Macrotia	6513	SLC2A1	ORPHA:168577
HP:0000400	Macrotia	207	AKT1	ORPHA:744
HP:0000400	Macrotia	63932	STEEP1	OMIM:301013
HP:0000400	Macrotia	8720	MBTPS1	OMIM:618392
HP:0000400	Macrotia	136647	MPLKIP	OMIM:234050
HP:0000400	Macrotia	7204	TRIO	OMIM:617061
HP:0000400	Macrotia	2222	FDFT1	OMIM:618156
HP:0000400	Macrotia	6872	TAF1	OMIM:300966
HP:0000400	Macrotia	374879	ZNF699	OMIM:619488
HP:0000400	Macrotia	54870	QRICH1	OMIM:617982
HP:0000400	Macrotia	2263	FGFR2	ORPHA:1555
HP:0000400	Macrotia	2893	GRIA4	OMIM:617864
HP:0000400	Macrotia	93587	TRMT10A	ORPHA:391408
HP:0000400	Macrotia	6748	SSR4	ORPHA:370927
HP:0000400	Macrotia	6748	SSR4	OMIM:300934
HP:0000400	Macrotia	84295	PHF6	OMIM:301900
HP:0000400	Macrotia	4256	MGP	OMIM:245150
HP:0000400	Macrotia	153241	CEP120	OMIM:616300
HP:0000400	Macrotia	440	ASNS	OMIM:615574
HP:0000400	Macrotia	55733	HHAT	ORPHA:1422
HP:0000400	Macrotia	11043	MID2	OMIM:300928
HP:0000400	Macrotia	4693	NDP	ORPHA:649
HP:0000400	Macrotia	128637	TBC1D20	ORPHA:2510
HP:0000400	Macrotia	9562	MINPP1	ORPHA:284339
HP:0000400	Macrotia	55553	SOX6	OMIM:618971
HP:0000400	Macrotia	55181	SMG8	OMIM:619268
HP:0000400	Macrotia	1968	EIF2S3	OMIM:300148
HP:0000400	Macrotia	51109	RDH11	ORPHA:436245
HP:0000400	Macrotia	523	ATP6V1A	OMIM:617403
HP:0000400	Macrotia	51002	TPRKB	ORPHA:2065
HP:0000400	Macrotia	55644	OSGEP	ORPHA:2065
HP:0000400	Macrotia	57122	NUP107	ORPHA:2065
HP:0000400	Macrotia	10785	WDR4	ORPHA:2065
HP:0000400	Macrotia	55746	NUP133	ORPHA:2065
HP:0000400	Macrotia	112858	TP53RK	ORPHA:2065
HP:0000400	Macrotia	8270	LAGE3	ORPHA:2065
HP:0000400	Macrotia	27445	PCLO	OMIM:608027
HP:0000400	Macrotia	5696	PSMB8	OMIM:256040
HP:0000400	Macrotia	25974	MMACHC	OMIM:277400
HP:0000400	Macrotia	5052	PRDX1	OMIM:277400
HP:0000400	Macrotia	9990	SLC12A6	OMIM:218000
HP:0000400	Macrotia	79796	ALG9	ORPHA:79328
HP:0000400	Macrotia	79796	ALG9	OMIM:263210
HP:0000400	Macrotia	79718	TBL1XR1	OMIM:602342
HP:0000400	Macrotia	23556	PIGN	OMIM:614080
HP:0000400	Macrotia	23556	PIGN	ORPHA:280633
HP:0000400	Macrotia	4677	NARS1	OMIM:619092
HP:0000400	Macrotia	30000	TNPO2	OMIM:619556
HP:0000400	Macrotia	83696	TRAPPC9	ORPHA:352530
HP:0000400	Macrotia	202018	TAPT1	OMIM:616897
HP:0000400	Macrotia	10584	COLEC10	ORPHA:293843
HP:0000400	Macrotia	5648	MASP1	ORPHA:293843
HP:0000400	Macrotia	78989	COLEC11	ORPHA:293843
HP:0000400	Macrotia	526	ATP6V1B2	ORPHA:3473
HP:0000400	Macrotia	3756	KCNH1	ORPHA:3473
HP:0000400	Macrotia	3782	KCNN3	ORPHA:3473
HP:0001756	Vestibular hypofunction	64072	CDH23	ORPHA:231169
HP:0001756	Vestibular hypofunction	10083	USH1C	ORPHA:231169
HP:0001756	Vestibular hypofunction	10083	USH1C	OMIM:276904
HP:0001756	Vestibular hypofunction	124590	USH1G	ORPHA:231169
HP:0001756	Vestibular hypofunction	83715	ESPN	ORPHA:231169
HP:0001756	Vestibular hypofunction	10518	CIB2	ORPHA:231169
HP:0001756	Vestibular hypofunction	4647	MYO7A	ORPHA:231169
HP:0001756	Vestibular hypofunction	65217	PCDH15	ORPHA:231169
HP:0001756	Vestibular hypofunction	6548	SLC9A1	OMIM:616291
HP:0001756	Vestibular hypofunction	283310	OTOGL	OMIM:614944
HP:0001756	Vestibular hypofunction	340990	OTOG	OMIM:614945
HP:0001756	Vestibular hypofunction	3735	KARS1	OMIM:613916
HP:0001756	Vestibular hypofunction	7401	CLRN1	ORPHA:231183
HP:0001756	Vestibular hypofunction	22901	ARSG	ORPHA:231183
HP:0001756	Vestibular hypofunction	4575	MT-TS2	ORPHA:231183
HP:0001756	Vestibular hypofunction	3035	HARS1	ORPHA:231183
HP:0001756	Vestibular hypofunction	84131	CEP78	ORPHA:231183
HP:0001756	Vestibular hypofunction	25861	WHRN	OMIM:607084
HP:0001756	Vestibular hypofunction	54845	ESRP1	OMIM:618013
HP:0001757	High-frequency sensorineural hearing impairment	4000	LMNA	ORPHA:740
HP:0001757	High-frequency sensorineural hearing impairment	10269	ZMPSTE24	ORPHA:740
HP:0001757	High-frequency sensorineural hearing impairment	11190	CEP250	OMIM:618358
HP:0001757	High-frequency sensorineural hearing impairment	427	ASAH1	ORPHA:2590
HP:0001757	High-frequency sensorineural hearing impairment	55033	FKBP14	OMIM:614557
HP:0001757	High-frequency sensorineural hearing impairment	2248	FGF3	ORPHA:2791
HP:0004452	Abnormality of the middle ear ossicles	5718	PSMD12	ORPHA:529962
HP:0004452	Abnormality of the middle ear ossicles	2186	BPTF	ORPHA:529962
HP:0004452	Abnormality of the middle ear ossicles	392255	GDF6	OMIM:617898
HP:0004452	Abnormality of the middle ear ossicles	3423	IDS	ORPHA:217085
HP:0004452	Abnormality of the middle ear ossicles	3423	IDS	ORPHA:217093
HP:0004452	Abnormality of the middle ear ossicles	1277	COL1A1	OMIM:166220
HP:0004452	Abnormality of the middle ear ossicles	1277	COL1A1	OMIM:166200
HP:0004452	Abnormality of the middle ear ossicles	1278	COL1A2	OMIM:166220
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:186500
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:184460
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:185800
HP:0004452	Abnormality of the middle ear ossicles	5456	POU3F4	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	5456	POU3F4	ORPHA:1435
HP:0004452	Abnormality of the middle ear ossicles	10804	GJB6	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	2706	GJB2	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	5885	RAD21	OMIM:614701
HP:0004452	Abnormality of the middle ear ossicles	3590	IL11RA	OMIM:614188
HP:0004452	Abnormality of the middle ear ossicles	5167	ENPP1	ORPHA:51608
HP:0004452	Abnormality of the middle ear ossicles	368	ABCC6	ORPHA:51608
HP:0004452	Abnormality of the middle ear ossicles	4854	NOTCH3	OMIM:130720
HP:0004452	Abnormality of the middle ear ossicles	4854	NOTCH3	ORPHA:2789
HP:0004452	Abnormality of the middle ear ossicles	2138	EYA1	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	147912	SIX5	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	6495	SIX1	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	7020	TFAP2A	OMIM:113620
HP:0004452	Abnormality of the middle ear ossicles	51082	POLR1D	OMIM:613717
HP:0004452	Abnormality of the middle ear ossicles	6885	MAP3K7	OMIM:157800
HP:0004452	Abnormality of the middle ear ossicles	26040	SETBP1	ORPHA:798
HP:0004452	Abnormality of the middle ear ossicles	10735	STAG2	OMIM:301022
HP:0011975	Aminoglycoside-induced hearing loss	4574	MT-TS1	OMIM:580000
HP:0011975	Aminoglycoside-induced hearing loss	55687	TRMU	OMIM:580000
HP:0011976	Elevated urinary catecholamines	55654	TMEM127	OMIM:171300
HP:0011976	Elevated urinary catecholamines	55654	TMEM127	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	5979	RET	OMIM:171300
HP:0011976	Elevated urinary catecholamines	5979	RET	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	5979	RET	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	5979	RET	OMIM:171400
HP:0011976	Elevated urinary catecholamines	6390	SDHB	OMIM:171300
HP:0011976	Elevated urinary catecholamines	6390	SDHB	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	6390	SDHB	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	6392	SDHD	OMIM:171300
HP:0011976	Elevated urinary catecholamines	6392	SDHD	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	6392	SDHD	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	4149	MAX	OMIM:171300
HP:0011976	Elevated urinary catecholamines	4149	MAX	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	7428	VHL	OMIM:171300
HP:0011976	Elevated urinary catecholamines	7428	VHL	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	7428	VHL	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	1743	DLST	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	4191	MDH2	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	6389	SDHA	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	23095	KIF1B	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	2271	FH	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	8402	SLC25A11	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	54949	SDHAF2	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	4763	NF1	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	6391	SDHC	ORPHA:29072
HP:0011976	Elevated urinary catecholamines	1788	DNMT3A	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	2034	EPAS1	ORPHA:276621
HP:0011976	Elevated urinary catecholamines	6530	SLC6A2	OMIM:604715
HP:0011976	Elevated urinary catecholamines	595	CCND1	ORPHA:892
HP:0011976	Elevated urinary catecholamines	4613	MYCN	ORPHA:635
HP:0011976	Elevated urinary catecholamines	7153	TOP2A	ORPHA:635
HP:0011976	Elevated urinary catecholamines	238	ALK	ORPHA:635
HP:0011976	Elevated urinary catecholamines	389421	LIN28B	ORPHA:635
HP:0011976	Elevated urinary catecholamines	4004	LMO1	ORPHA:635
HP:0011976	Elevated urinary catecholamines	57531	HACE1	ORPHA:635
HP:0011976	Elevated urinary catecholamines	8929	PHOX2B	ORPHA:635
HP:0011976	Elevated urinary catecholamines	1621	DBH	ORPHA:230
HP:0011977	Elevated urinary homovanillic acid	23095	KIF1B	OMIM:256700
HP:0011977	Elevated urinary homovanillic acid	6571	SLC18A2	OMIM:618049
HP:0011979	Elevated urinary dopamine	23095	KIF1B	OMIM:256700
HP:0011979	Elevated urinary dopamine	23095	KIF1B	ORPHA:29072
HP:0011979	Elevated urinary dopamine	7428	VHL	ORPHA:29072
HP:0011979	Elevated urinary dopamine	7428	VHL	ORPHA:276621
HP:0011979	Elevated urinary dopamine	1743	DLST	ORPHA:29072
HP:0011979	Elevated urinary dopamine	4191	MDH2	ORPHA:29072
HP:0011979	Elevated urinary dopamine	5979	RET	ORPHA:29072
HP:0011979	Elevated urinary dopamine	5979	RET	ORPHA:276621
HP:0011979	Elevated urinary dopamine	5979	RET	OMIM:171400
HP:0011979	Elevated urinary dopamine	6389	SDHA	ORPHA:29072
HP:0011979	Elevated urinary dopamine	2271	FH	ORPHA:29072
HP:0011979	Elevated urinary dopamine	8402	SLC25A11	ORPHA:29072
HP:0011979	Elevated urinary dopamine	54949	SDHAF2	ORPHA:29072
HP:0011979	Elevated urinary dopamine	55654	TMEM127	ORPHA:29072
HP:0011979	Elevated urinary dopamine	4763	NF1	ORPHA:29072
HP:0011979	Elevated urinary dopamine	6391	SDHC	ORPHA:29072
HP:0011979	Elevated urinary dopamine	6392	SDHD	ORPHA:29072
HP:0011979	Elevated urinary dopamine	6392	SDHD	ORPHA:276621
HP:0011979	Elevated urinary dopamine	6390	SDHB	ORPHA:29072
HP:0011979	Elevated urinary dopamine	6390	SDHB	ORPHA:276621
HP:0011979	Elevated urinary dopamine	4149	MAX	ORPHA:29072
HP:0011979	Elevated urinary dopamine	1621	DBH	ORPHA:230
HP:0011979	Elevated urinary dopamine	1788	DNMT3A	ORPHA:276621
HP:0011979	Elevated urinary dopamine	2034	EPAS1	ORPHA:276621
HP:0011978	Elevated urinary vanillylmandelic acid	23095	KIF1B	OMIM:256700
HP:0011978	Elevated urinary vanillylmandelic acid	5979	RET	OMIM:171400
HP:0011971	Dermatographic urticaria	11198	SUPT16H	OMIM:619480
HP:0011971	Dermatographic urticaria	10999	SLC27A4	OMIM:608649
HP:0011971	Dermatographic urticaria	5336	PLCG2	OMIM:614468
HP:0011971	Dermatographic urticaria	3594	IL12RB1	ORPHA:186
HP:0011971	Dermatographic urticaria	23534	TNPO3	ORPHA:186
HP:0011971	Dermatographic urticaria	3592	IL12A	ORPHA:186
HP:0011971	Dermatographic urticaria	6689	SPIB	ORPHA:186
HP:0011971	Dermatographic urticaria	5450	POU2AF1	ORPHA:186
HP:0011971	Dermatographic urticaria	9966	TNFSF15	ORPHA:186
HP:0011971	Dermatographic urticaria	79258	MMEL1	ORPHA:186
HP:0011971	Dermatographic urticaria	3663	IRF5	ORPHA:186
HP:0011971	Dermatographic urticaria	710	SERPING1	ORPHA:100050
HP:0011971	Dermatographic urticaria	3815	KIT	ORPHA:79455
HP:0011971	Dermatographic urticaria	30817	ADGRE2	OMIM:125630
HP:0011972	Hypoglycorrhachia	6513	SLC2A1	OMIM:612126
HP:0011972	Hypoglycorrhachia	6513	SLC2A1	OMIM:606777
HP:0011972	Hypoglycorrhachia	6513	SLC2A1	OMIM:608885
HP:0011972	Hypoglycorrhachia	6513	SLC2A1	ORPHA:168577
HP:0011972	Hypoglycorrhachia	6513	SLC2A1	ORPHA:71277
HP:0011972	Hypoglycorrhachia	7187	TRAF3	ORPHA:1930
HP:0011972	Hypoglycorrhachia	81622	UNC93B1	ORPHA:1930
HP:0011972	Hypoglycorrhachia	148022	TICAM1	ORPHA:1930
HP:0011972	Hypoglycorrhachia	7098	TLR3	ORPHA:1930
HP:0011972	Hypoglycorrhachia	29110	TBK1	ORPHA:1930
HP:0011973	Paroxysmal lethargy	6513	SLC2A1	OMIM:606777
HP:0011974	Myelofibrosis	51311	TLR8	OMIM:301078
HP:0011974	Myelofibrosis	8036	SHOC2	OMIM:607721
HP:0011974	Myelofibrosis	80739	MPIG6B	OMIM:617441
HP:0011974	Myelofibrosis	3717	JAK2	OMIM:254450
HP:0011974	Myelofibrosis	3717	JAK2	ORPHA:3318
HP:0011974	Myelofibrosis	3717	JAK2	ORPHA:729
HP:0011974	Myelofibrosis	10019	SH2B3	OMIM:254450
HP:0011974	Myelofibrosis	10019	SH2B3	ORPHA:3318
HP:0011974	Myelofibrosis	811	CALR	OMIM:254450
HP:0011974	Myelofibrosis	811	CALR	ORPHA:3318
HP:0011974	Myelofibrosis	4352	MPL	OMIM:254450
HP:0011974	Myelofibrosis	4352	MPL	ORPHA:3318
HP:0011974	Myelofibrosis	4352	MPL	ORPHA:729
HP:0011974	Myelofibrosis	7157	TP53	ORPHA:3318
HP:0011974	Myelofibrosis	54790	TET2	ORPHA:3318
HP:0011974	Myelofibrosis	54790	TET2	ORPHA:729
HP:0011974	Myelofibrosis	6916	TBXAS1	OMIM:231095
HP:0011974	Myelofibrosis	6714	SRC	OMIM:616937
HP:0011974	Myelofibrosis	8328	GFI1B	OMIM:187900
HP:0011974	Myelofibrosis	23218	NBEAL2	OMIM:139090
HP:0011970	Cerebral amyloid angiopathy	348	APOE	OMIM:606889
HP:0011970	Cerebral amyloid angiopathy	5664	PSEN2	OMIM:606889
HP:0011970	Cerebral amyloid angiopathy	351	APP	OMIM:605714
HP:0011970	Cerebral amyloid angiopathy	351	APP	ORPHA:100006
HP:0011970	Cerebral amyloid angiopathy	9445	ITM2B	OMIM:176500
HP:0011970	Cerebral amyloid angiopathy	9445	ITM2B	OMIM:117300
HP:0011970	Cerebral amyloid angiopathy	1471	CST3	ORPHA:100008
HP:0001760	Abnormal foot morphology	7051	TGM1	OMIM:242300
HP:0001760	Abnormal foot morphology	7051	TGM1	ORPHA:100976
HP:0001760	Abnormal foot morphology	3858	KRT10	OMIM:607602
HP:0001760	Abnormal foot morphology	3858	KRT10	OMIM:609165
HP:0001760	Abnormal foot morphology	121214	SDR9C7	OMIM:617574
HP:0001760	Abnormal foot morphology	55651	NHP2	OMIM:224230
HP:0001760	Abnormal foot morphology	55505	NOP10	OMIM:224230
HP:0001760	Abnormal foot morphology	121391	KRT74	OMIM:194300
HP:0001760	Abnormal foot morphology	7373	COL14A1	ORPHA:79501
HP:0001760	Abnormal foot morphology	5605	MAP2K2	OMIM:615280
HP:0001760	Abnormal foot morphology	57511	COG6	ORPHA:363523
HP:0001760	Abnormal foot morphology	57511	COG6	OMIM:615328
HP:0001760	Abnormal foot morphology	22861	NLRP1	OMIM:617388
HP:0001760	Abnormal foot morphology	55612	FERMT1	OMIM:173650
HP:0001760	Abnormal foot morphology	7015	TERT	OMIM:613989
HP:0001760	Abnormal foot morphology	3889	KRT83	OMIM:617756
HP:0001760	Abnormal foot morphology	7286	TUFT1	OMIM:607655
HP:0001760	Abnormal foot morphology	9015	TAF1A	ORPHA:154
HP:0001760	Abnormal foot morphology	5663	PSEN1	ORPHA:154
HP:0001760	Abnormal foot morphology	6389	SDHA	ORPHA:154
HP:0001760	Abnormal foot morphology	7112	TMPO	ORPHA:154
HP:0001760	Abnormal foot morphology	9464	HAND2	ORPHA:154
HP:0001760	Abnormal foot morphology	88	ACTN2	ORPHA:154
HP:0001760	Abnormal foot morphology	10486	CAP2	ORPHA:154
HP:0001760	Abnormal foot morphology	7168	TPM1	ORPHA:154
HP:0001760	Abnormal foot morphology	7414	VCL	ORPHA:154
HP:0001760	Abnormal foot morphology	70	ACTC1	ORPHA:154
HP:0001760	Abnormal foot morphology	27063	ANKRD1	ORPHA:154
HP:0001760	Abnormal foot morphology	8048	CSRP3	ORPHA:154
HP:0001760	Abnormal foot morphology	1410	CRYAB	ORPHA:154
HP:0001760	Abnormal foot morphology	7139	TNNT2	ORPHA:154
HP:0001760	Abnormal foot morphology	1829	DSG2	ORPHA:154
HP:0001760	Abnormal foot morphology	3910	LAMA4	ORPHA:154
HP:0001760	Abnormal foot morphology	10587	TXNRD2	ORPHA:154
HP:0001760	Abnormal foot morphology	5350	PLN	ORPHA:154
HP:0001760	Abnormal foot morphology	91624	NEXN	ORPHA:154
HP:0001760	Abnormal foot morphology	79717	PPCS	ORPHA:154
HP:0001760	Abnormal foot morphology	5664	PSEN2	ORPHA:154
HP:0001760	Abnormal foot morphology	4624	MYH6	ORPHA:154
HP:0001760	Abnormal foot morphology	9529	BAG5	ORPHA:154
HP:0001760	Abnormal foot morphology	4607	MYBPC3	ORPHA:154
HP:0001760	Abnormal foot morphology	282996	RBM20	ORPHA:154
HP:0001760	Abnormal foot morphology	7137	TNNI3	ORPHA:154
HP:0001760	Abnormal foot morphology	11155	LDB3	ORPHA:154
HP:0001760	Abnormal foot morphology	2274	FHL2	ORPHA:154
HP:0001760	Abnormal foot morphology	22845	DOLK	ORPHA:154
HP:0001760	Abnormal foot morphology	5894	RAF1	ORPHA:154
HP:0001760	Abnormal foot morphology	57798	GATAD1	ORPHA:154
HP:0001760	Abnormal foot morphology	7134	TNNC1	ORPHA:154
HP:0001760	Abnormal foot morphology	6444	SGCD	ORPHA:154
HP:0001760	Abnormal foot morphology	6331	SCN5A	ORPHA:154
HP:0001760	Abnormal foot morphology	8557	TCAP	ORPHA:154
HP:0001760	Abnormal foot morphology	79092	CARD14	OMIM:173200
HP:0001760	Abnormal foot morphology	79092	CARD14	ORPHA:2897
HP:0001760	Abnormal foot morphology	1308	COL17A1	ORPHA:79406
HP:0001760	Abnormal foot morphology	1308	COL17A1	ORPHA:79402
HP:0001760	Abnormal foot morphology	162	AP1B1	OMIM:242150
HP:0001760	Abnormal foot morphology	4574	MT-TS1	ORPHA:2202
HP:0001760	Abnormal foot morphology	1824	DSC2	OMIM:610476
HP:0001760	Abnormal foot morphology	3849	KRT2	ORPHA:455
HP:0001760	Abnormal foot morphology	5604	MAP2K1	ORPHA:1340
HP:0001760	Abnormal foot morphology	3909	LAMA3	ORPHA:79402
HP:0001760	Abnormal foot morphology	3918	LAMC2	ORPHA:79402
HP:0001760	Abnormal foot morphology	6898	TAT	ORPHA:28378
HP:0001760	Abnormal foot morphology	10483	SEC23B	ORPHA:201
HP:0001760	Abnormal foot morphology	6390	SDHB	ORPHA:201
HP:0001760	Abnormal foot morphology	6392	SDHD	ORPHA:201
HP:0001760	Abnormal foot morphology	6391	SDHC	ORPHA:201
HP:0001760	Abnormal foot morphology	205717	USF3	ORPHA:201
HP:0001760	Abnormal foot morphology	100144748	KLLN	ORPHA:201
HP:0001760	Abnormal foot morphology	1475	CSTA	OMIM:607936
HP:0001760	Abnormal foot morphology	285848	PNPLA1	OMIM:615024
HP:0001760	Abnormal foot morphology	285848	PNPLA1	ORPHA:79394
HP:0001760	Abnormal foot morphology	23328	SASH1	OMIM:618373
HP:0001760	Abnormal foot morphology	1474	CST6	OMIM:618535
HP:0001760	Abnormal foot morphology	412	STS	OMIM:308100
HP:0001760	Abnormal foot morphology	54795	TRPM4	ORPHA:316
HP:0001760	Abnormal foot morphology	242	ALOX12B	OMIM:242100
HP:0001760	Abnormal foot morphology	242	ALOX12B	ORPHA:79394
HP:0001760	Abnormal foot morphology	59344	ALOXE3	OMIM:242100
HP:0001760	Abnormal foot morphology	59344	ALOXE3	OMIM:606545
HP:0001760	Abnormal foot morphology	59344	ALOXE3	ORPHA:79394
HP:0001760	Abnormal foot morphology	126410	CYP4F22	OMIM:604777
HP:0001760	Abnormal foot morphology	348938	NIPAL4	OMIM:612281
HP:0001760	Abnormal foot morphology	348938	NIPAL4	ORPHA:79394
HP:0001760	Abnormal foot morphology	5184	PEPD	ORPHA:742
HP:0001760	Abnormal foot morphology	25959	KANK2	OMIM:616099
HP:0001760	Abnormal foot morphology	57192	MCOLN1	ORPHA:578
HP:0001760	Abnormal foot morphology	1493	CTLA4	ORPHA:3162
HP:0001760	Abnormal foot morphology	940	CD28	ORPHA:3162
HP:0001760	Abnormal foot morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001760	Abnormal foot morphology	79977	GRHL2	OMIM:616029
HP:0001760	Abnormal foot morphology	79644	SRD5A3	ORPHA:324737
HP:0001760	Abnormal foot morphology	80169	CTC1	ORPHA:1775
HP:0001760	Abnormal foot morphology	26277	TINF2	ORPHA:1775
HP:0001760	Abnormal foot morphology	55135	WRAP53	ORPHA:1775
HP:0001760	Abnormal foot morphology	51750	RTEL1	ORPHA:1775
HP:0001760	Abnormal foot morphology	4869	NPM1	ORPHA:1775
HP:0001760	Abnormal foot morphology	7012	TERC	ORPHA:1775
HP:0001760	Abnormal foot morphology	5073	PARN	ORPHA:1775
HP:0001760	Abnormal foot morphology	1736	DKC1	ORPHA:1775
HP:0001760	Abnormal foot morphology	7298	TYMS	ORPHA:1775
HP:0001760	Abnormal foot morphology	204219	CERS3	ORPHA:79394
HP:0001760	Abnormal foot morphology	29957	SLC25A24	ORPHA:2095
HP:0001760	Abnormal foot morphology	8838	CCN6	OMIM:208230
HP:0001760	Abnormal foot morphology	6873	TAF2	OMIM:615599
HP:0001760	Abnormal foot morphology	6873	TAF2	ORPHA:397951
HP:0001760	Abnormal foot morphology	249	ALPL	OMIM:146300
HP:0001760	Abnormal foot morphology	9508	ADAMTS3	ORPHA:2136
HP:0001760	Abnormal foot morphology	51259	TMEM216	OMIM:608091
HP:0001760	Abnormal foot morphology	6571	SLC18A2	ORPHA:352649
HP:0001760	Abnormal foot morphology	80025	PANK2	OMIM:234200
HP:0001760	Abnormal foot morphology	10479	SLC9A6	OMIM:300243
HP:0001760	Abnormal foot morphology	4649	MYO9A	OMIM:618198
HP:0001760	Abnormal foot morphology	1723	DHODH	OMIM:263750
HP:0001760	Abnormal foot morphology	84162	BLTP1	OMIM:617822
HP:0001760	Abnormal foot morphology	51010	EXOSC3	OMIM:614678
HP:0001760	Abnormal foot morphology	7443	VRK1	OMIM:607596
HP:0001760	Abnormal foot morphology	8565	YARS1	OMIM:608323
HP:0001760	Abnormal foot morphology	1376	CPT2	OMIM:608836
HP:0001760	Abnormal foot morphology	427	ASAH1	ORPHA:333
HP:0001760	Abnormal foot morphology	26503	SLC17A5	OMIM:269920
HP:0001760	Abnormal foot morphology	1107	CHD3	OMIM:618205
HP:0001760	Abnormal foot morphology	79784	MYH14	OMIM:614369
HP:0001760	Abnormal foot morphology	1146	CHRNG	ORPHA:2990
HP:0001760	Abnormal foot morphology	3481	IGF2	OMIM:180860
HP:0001760	Abnormal foot morphology	23389	MED13L	ORPHA:369891
HP:0001760	Abnormal foot morphology	10815	CPLX1	ORPHA:280
HP:0001760	Abnormal foot morphology	7469	NELFA	ORPHA:280
HP:0001760	Abnormal foot morphology	1487	CTBP1	ORPHA:280
HP:0001760	Abnormal foot morphology	3954	LETM1	ORPHA:280
HP:0001760	Abnormal foot morphology	7468	NSD2	ORPHA:280
HP:0001760	Abnormal foot morphology	26053	AUTS2	ORPHA:352490
HP:0001760	Abnormal foot morphology	7305	TYROBP	OMIM:221770
HP:0001760	Abnormal foot morphology	23400	ATP13A2	ORPHA:306674
HP:0001760	Abnormal foot morphology	22948	CCT5	OMIM:256840
HP:0001760	Abnormal foot morphology	2395	FXN	ORPHA:95
HP:0001760	Abnormal foot morphology	23769	FLRT1	ORPHA:320406
HP:0001760	Abnormal foot morphology	64837	KLC2	ORPHA:320406
HP:0001760	Abnormal foot morphology	64837	KLC2	OMIM:609541
HP:0001760	Abnormal foot morphology	6535	SLC6A8	OMIM:300352
HP:0001760	Abnormal foot morphology	57165	GJC2	ORPHA:320401
HP:0001760	Abnormal foot morphology	57165	GJC2	OMIM:613206
HP:0001760	Abnormal foot morphology	80821	DDHD1	OMIM:609340
HP:0001760	Abnormal foot morphology	80821	DDHD1	ORPHA:101008
HP:0001760	Abnormal foot morphology	5165	PDK3	OMIM:300905
HP:0001760	Abnormal foot morphology	5165	PDK3	ORPHA:352675
HP:0001760	Abnormal foot morphology	55775	TDP1	ORPHA:94124
HP:0001760	Abnormal foot morphology	55775	TDP1	OMIM:607250
HP:0001760	Abnormal foot morphology	5111	PCNA	OMIM:615919
HP:0001760	Abnormal foot morphology	6687	SPG7	ORPHA:99013
HP:0001760	Abnormal foot morphology	6687	SPG7	OMIM:607259
HP:0001760	Abnormal foot morphology	5631	PRPS1	ORPHA:99014
HP:0001760	Abnormal foot morphology	5631	PRPS1	OMIM:311070
HP:0001760	Abnormal foot morphology	8291	DYSF	ORPHA:268
HP:0001760	Abnormal foot morphology	4784	NFIX	ORPHA:447980
HP:0001760	Abnormal foot morphology	200205	IBA57	ORPHA:468661
HP:0001760	Abnormal foot morphology	3074	HEXB	ORPHA:309162
HP:0001760	Abnormal foot morphology	80232	WDR26	ORPHA:513456
HP:0001760	Abnormal foot morphology	80232	WDR26	OMIM:617616
HP:0001760	Abnormal foot morphology	6576	SLC25A1	OMIM:618197
HP:0001760	Abnormal foot morphology	6576	SLC25A1	ORPHA:98914
HP:0001760	Abnormal foot morphology	128486	FITM2	OMIM:618635
HP:0001760	Abnormal foot morphology	9197	SLC33A1	OMIM:612539
HP:0001760	Abnormal foot morphology	9197	SLC33A1	ORPHA:171863
HP:0001760	Abnormal foot morphology	55154	MSTO1	OMIM:617675
HP:0001760	Abnormal foot morphology	55154	MSTO1	ORPHA:502423
HP:0001760	Abnormal foot morphology	6843	VAMP1	OMIM:108600
HP:0001760	Abnormal foot morphology	6843	VAMP1	ORPHA:251282
HP:0001760	Abnormal foot morphology	6843	VAMP1	ORPHA:98914
HP:0001760	Abnormal foot morphology	55187	VPS13D	ORPHA:95434
HP:0001760	Abnormal foot morphology	55187	VPS13D	OMIM:607317
HP:0001760	Abnormal foot morphology	27072	VPS41	ORPHA:95434
HP:0001760	Abnormal foot morphology	823	CAPN1	OMIM:616907
HP:0001760	Abnormal foot morphology	823	CAPN1	ORPHA:488594
HP:0001760	Abnormal foot morphology	7274	TTPA	ORPHA:96
HP:0001760	Abnormal foot morphology	4763	NF1	ORPHA:363700
HP:0001760	Abnormal foot morphology	833	CARS1	OMIM:618891
HP:0001760	Abnormal foot morphology	2903	GRIN2A	ORPHA:289266
HP:0001760	Abnormal foot morphology	2903	GRIN2A	OMIM:245570
HP:0001760	Abnormal foot morphology	51271	UBAP1	OMIM:618418
HP:0001760	Abnormal foot morphology	51271	UBAP1	ORPHA:100993
HP:0001760	Abnormal foot morphology	55526	DHTKD1	OMIM:615025
HP:0001760	Abnormal foot morphology	3735	KARS1	OMIM:613641
HP:0001760	Abnormal foot morphology	2629	GBA1	OMIM:231005
HP:0001760	Abnormal foot morphology	2629	GBA1	ORPHA:2072
HP:0001760	Abnormal foot morphology	54840	APTX	OMIM:208920
HP:0001760	Abnormal foot morphology	3425	IDUA	OMIM:607016
HP:0001760	Abnormal foot morphology	5192	PEX10	ORPHA:247815
HP:0001760	Abnormal foot morphology	5192	PEX10	OMIM:614871
HP:0001760	Abnormal foot morphology	3475	IFRD1	ORPHA:98771
HP:0001760	Abnormal foot morphology	9897	WASHC5	OMIM:603563
HP:0001760	Abnormal foot morphology	9897	WASHC5	ORPHA:100989
HP:0001760	Abnormal foot morphology	23312	DMXL2	ORPHA:453533
HP:0001760	Abnormal foot morphology	4744	NEFH	OMIM:616924
HP:0001760	Abnormal foot morphology	2259	FGF14	ORPHA:98764
HP:0001760	Abnormal foot morphology	2259	FGF14	OMIM:193003
HP:0001760	Abnormal foot morphology	23503	ZFYVE26	OMIM:270700
HP:0001760	Abnormal foot morphology	23503	ZFYVE26	ORPHA:100996
HP:0001760	Abnormal foot morphology	4311	MME	ORPHA:497764
HP:0001760	Abnormal foot morphology	4311	MME	OMIM:617018
HP:0001760	Abnormal foot morphology	26137	ZBTB20	OMIM:259050
HP:0001760	Abnormal foot morphology	56652	TWNK	OMIM:616138
HP:0001760	Abnormal foot morphology	56652	TWNK	OMIM:607459
HP:0001760	Abnormal foot morphology	55129	ANO10	ORPHA:284289
HP:0001760	Abnormal foot morphology	55129	ANO10	OMIM:613728
HP:0001760	Abnormal foot morphology	4677	NARS1	OMIM:619092
HP:0001760	Abnormal foot morphology	3423	IDS	OMIM:309900
HP:0001760	Abnormal foot morphology	3300	DNAJB2	OMIM:614881
HP:0001760	Abnormal foot morphology	390594	KBTBD13	ORPHA:171439
HP:0001760	Abnormal foot morphology	10324	KLHL41	ORPHA:171439
HP:0001760	Abnormal foot morphology	2961	GTF2E2	OMIM:616943
HP:0001760	Abnormal foot morphology	51062	ATL1	OMIM:182600
HP:0001760	Abnormal foot morphology	51062	ATL1	OMIM:613708
HP:0001760	Abnormal foot morphology	57704	GBA2	OMIM:614409
HP:0001760	Abnormal foot morphology	57704	GBA2	ORPHA:352641
HP:0001760	Abnormal foot morphology	57704	GBA2	ORPHA:320391
HP:0001760	Abnormal foot morphology	85021	REPS1	OMIM:617916
HP:0001760	Abnormal foot morphology	26353	HSPB8	OMIM:608673
HP:0001760	Abnormal foot morphology	84188	FAR1	ORPHA:447753
HP:0001760	Abnormal foot morphology	6253	RTN2	ORPHA:100993
HP:0001760	Abnormal foot morphology	6253	RTN2	OMIM:604805
HP:0001760	Abnormal foot morphology	3329	HSPD1	ORPHA:100994
HP:0001760	Abnormal foot morphology	5428	POLG	OMIM:607459
HP:0001760	Abnormal foot morphology	5428	POLG	OMIM:258450
HP:0001760	Abnormal foot morphology	5428	POLG	OMIM:157640
HP:0001760	Abnormal foot morphology	3798	KIF5A	ORPHA:100991
HP:0001760	Abnormal foot morphology	3798	KIF5A	OMIM:604187
HP:0001760	Abnormal foot morphology	10533	ATG7	OMIM:619422
HP:0001760	Abnormal foot morphology	3991	LIPE	OMIM:615980
HP:0001760	Abnormal foot morphology	1337	COX6A1	OMIM:616039
HP:0001760	Abnormal foot morphology	2583	B4GALNT1	OMIM:609195
HP:0001760	Abnormal foot morphology	2583	B4GALNT1	ORPHA:101006
HP:0001760	Abnormal foot morphology	51308	REEP2	OMIM:615625
HP:0001760	Abnormal foot morphology	51308	REEP2	ORPHA:401849
HP:0001760	Abnormal foot morphology	23064	SETX	OMIM:606002
HP:0001760	Abnormal foot morphology	23064	SETX	ORPHA:357043
HP:0001760	Abnormal foot morphology	1785	DNM2	OMIM:606482
HP:0001760	Abnormal foot morphology	5979	RET	OMIM:162300
HP:0001760	Abnormal foot morphology	80207	OPA3	ORPHA:67036
HP:0001760	Abnormal foot morphology	6683	SPAST	ORPHA:100985
HP:0001760	Abnormal foot morphology	9420	CYP7B1	ORPHA:100986
HP:0001760	Abnormal foot morphology	9420	CYP7B1	OMIM:270800
HP:0001760	Abnormal foot morphology	123606	NIPA1	ORPHA:100988
HP:0001760	Abnormal foot morphology	123606	NIPA1	OMIM:600363
HP:0001760	Abnormal foot morphology	1305	COL13A1	OMIM:616720
HP:0001760	Abnormal foot morphology	1305	COL13A1	ORPHA:98914
HP:0001760	Abnormal foot morphology	2581	GALC	ORPHA:206443
HP:0001760	Abnormal foot morphology	2581	GALC	ORPHA:206448
HP:0001760	Abnormal foot morphology	5610	EIF2AK2	OMIM:619687
HP:0001760	Abnormal foot morphology	6652	SORD	OMIM:618912
HP:0001760	Abnormal foot morphology	4131	MAP1B	OMIM:618918
HP:0001760	Abnormal foot morphology	8888	MCM3AP	OMIM:618124
HP:0001760	Abnormal foot morphology	182	JAG1	OMIM:619574
HP:0001760	Abnormal foot morphology	859	CAV3	OMIM:614321
HP:0001760	Abnormal foot morphology	859	CAV3	ORPHA:488650
HP:0001760	Abnormal foot morphology	91137	SLC25A46	OMIM:616505
HP:0001760	Abnormal foot morphology	9361	LONP1	ORPHA:79243
HP:0001760	Abnormal foot morphology	5160	PDHA1	ORPHA:79243
HP:0001760	Abnormal foot morphology	7703	PCGF2	OMIM:618371
HP:0001760	Abnormal foot morphology	112812	FDX2	OMIM:251900
HP:0001760	Abnormal foot morphology	7453	WARS1	OMIM:617721
HP:0001760	Abnormal foot morphology	9531	BAG3	OMIM:612954
HP:0001760	Abnormal foot morphology	4361	MRE11	ORPHA:251347
HP:0001760	Abnormal foot morphology	5293	PIK3CD	ORPHA:221139
HP:0001760	Abnormal foot morphology	90417	KNSTRN	ORPHA:221139
HP:0001760	Abnormal foot morphology	7507	XPA	OMIM:278700
HP:0001760	Abnormal foot morphology	26047	CNTNAP2	ORPHA:163681
HP:0001760	Abnormal foot morphology	9829	DNAJC6	ORPHA:391411
HP:0001760	Abnormal foot morphology	5420	PODXL	ORPHA:391411
HP:0001760	Abnormal foot morphology	8867	SYNJ1	ORPHA:391411
HP:0001760	Abnormal foot morphology	476	ATP1A1	OMIM:618036
HP:0001760	Abnormal foot morphology	219285	SAMD9L	OMIM:619806
HP:0001760	Abnormal foot morphology	1103	CHAT	ORPHA:98914
HP:0001760	Abnormal foot morphology	375790	AGRN	ORPHA:98914
HP:0001760	Abnormal foot morphology	6572	SLC18A3	ORPHA:98914
HP:0001760	Abnormal foot morphology	6616	SNAP25	ORPHA:98914
HP:0001760	Abnormal foot morphology	9516	LITAF	OMIM:601098
HP:0001760	Abnormal foot morphology	10558	SPTLC1	OMIM:162400
HP:0001760	Abnormal foot morphology	3920	LAMP2	OMIM:300257
HP:0001760	Abnormal foot morphology	7518	XRCC4	OMIM:616541
HP:0001760	Abnormal foot morphology	81545	FBXO38	OMIM:615575
HP:0001760	Abnormal foot morphology	5354	PLP1	OMIM:312920
HP:0001760	Abnormal foot morphology	54936	ADPRS	OMIM:618170
HP:0001760	Abnormal foot morphology	126129	CPT1C	ORPHA:444099
HP:0001760	Abnormal foot morphology	3839	KPNA3	ORPHA:171612
HP:0001760	Abnormal foot morphology	55753	OGDHL	OMIM:619701
HP:0001760	Abnormal foot morphology	9570	GOSR2	OMIM:614018
HP:0001760	Abnormal foot morphology	50846	DHH	ORPHA:168563
HP:0001760	Abnormal foot morphology	9853	RUSC2	OMIM:617773
HP:0001760	Abnormal foot morphology	3008	H1-4	OMIM:617537
HP:0001760	Abnormal foot morphology	84942	WDR73	OMIM:251300
HP:0001760	Abnormal foot morphology	1131	CHRM3	ORPHA:2970
HP:0001760	Abnormal foot morphology	1131	CHRM3	OMIM:100100
HP:0001760	Abnormal foot morphology	5830	PEX5	OMIM:214110
HP:0001760	Abnormal foot morphology	5830	PEX5	OMIM:616716
HP:0001760	Abnormal foot morphology	4487	MSX1	ORPHA:199302
HP:0001760	Abnormal foot morphology	56704	JPH1	OMIM:607831
HP:0001760	Abnormal foot morphology	2073	ERCC5	OMIM:616570
HP:0001760	Abnormal foot morphology	6536	SLC6A9	OMIM:617301
HP:0001760	Abnormal foot morphology	64412	GZF1	OMIM:617662
HP:0001760	Abnormal foot morphology	51111	KMT5B	OMIM:617788
HP:0001760	Abnormal foot morphology	84466	MEGF10	OMIM:614399
HP:0001760	Abnormal foot morphology	2201	FBN2	OMIM:121050
HP:0001760	Abnormal foot morphology	3508	IGHMBP2	OMIM:604320
HP:0001760	Abnormal foot morphology	3508	IGHMBP2	OMIM:616155
HP:0001760	Abnormal foot morphology	79158	GNPTAB	OMIM:252500
HP:0001760	Abnormal foot morphology	79158	GNPTAB	ORPHA:576
HP:0001760	Abnormal foot morphology	57231	SNX14	ORPHA:397709
HP:0001760	Abnormal foot morphology	57231	SNX14	OMIM:616354
HP:0001760	Abnormal foot morphology	5189	PEX1	OMIM:214100
HP:0001760	Abnormal foot morphology	60561	RINT1	OMIM:618641
HP:0001760	Abnormal foot morphology	129685	TAF8	OMIM:619972
HP:0001760	Abnormal foot morphology	23321	TRIM2	OMIM:615490
HP:0001760	Abnormal foot morphology	10606	PAICS	OMIM:619859
HP:0001760	Abnormal foot morphology	22872	SEC31A	OMIM:618651
HP:0001760	Abnormal foot morphology	57498	KIDINS220	OMIM:619501
HP:0001760	Abnormal foot morphology	5442	POLRMT	OMIM:619743
HP:0001760	Abnormal foot morphology	1123	CHN1	ORPHA:233
HP:0001760	Abnormal foot morphology	3572	IL6ST	OMIM:619752
HP:0001760	Abnormal foot morphology	91574	MTRFR	OMIM:615035
HP:0001760	Abnormal foot morphology	91574	MTRFR	ORPHA:320375
HP:0001760	Abnormal foot morphology	7862	BRPF1	OMIM:617333
HP:0001760	Abnormal foot morphology	286	ANK1	ORPHA:251066
HP:0001760	Abnormal foot morphology	145258	GSC	OMIM:602471
HP:0001760	Abnormal foot morphology	8898	MTMR2	OMIM:601382
HP:0001760	Abnormal foot morphology	79796	ALG9	ORPHA:79328
HP:0001760	Abnormal foot morphology	8314	BAP1	OMIM:619762
HP:0001760	Abnormal foot morphology	6901	TAFAZZIN	OMIM:302060
HP:0001760	Abnormal foot morphology	57688	ZSWIM6	OMIM:603671
HP:0001760	Abnormal foot morphology	57688	ZSWIM6	ORPHA:1827
HP:0001760	Abnormal foot morphology	57688	ZSWIM6	OMIM:617865
HP:0001760	Abnormal foot morphology	23483	TGDS	OMIM:616145
HP:0001760	Abnormal foot morphology	79087	ALG12	ORPHA:79324
HP:0001760	Abnormal foot morphology	79087	ALG12	OMIM:607143
HP:0001760	Abnormal foot morphology	79053	ALG8	ORPHA:79325
HP:0001760	Abnormal foot morphology	79053	ALG8	OMIM:608104
HP:0001760	Abnormal foot morphology	10195	ALG3	OMIM:601110
HP:0001760	Abnormal foot morphology	1917	EEF1A2	OMIM:616393
HP:0001760	Abnormal foot morphology	9427	ECEL1	OMIM:615065
HP:0001760	Abnormal foot morphology	1674	DES	OMIM:181400
HP:0001760	Abnormal foot morphology	389827	MYMK	OMIM:254940
HP:0001760	Abnormal foot morphology	389827	MYMK	ORPHA:1358
HP:0001760	Abnormal foot morphology	9488	PIGB	OMIM:618580
HP:0001760	Abnormal foot morphology	160418	TMTC3	OMIM:617255
HP:0001760	Abnormal foot morphology	9256	TSPOAP1	ORPHA:101150
HP:0001760	Abnormal foot morphology	7054	TH	ORPHA:101150
HP:0001760	Abnormal foot morphology	10733	PLK4	OMIM:616171
HP:0001760	Abnormal foot morphology	1491	CTH	ORPHA:212
HP:0001760	Abnormal foot morphology	5980	REV3L	ORPHA:570
HP:0001760	Abnormal foot morphology	23129	PLXND1	ORPHA:570
HP:0001760	Abnormal foot morphology	3039	HBA1	ORPHA:98791
HP:0001760	Abnormal foot morphology	3040	HBA2	ORPHA:98791
HP:0001760	Abnormal foot morphology	4998	ORC1	OMIM:224690
HP:0001760	Abnormal foot morphology	64856	VWA1	OMIM:619216
HP:0001760	Abnormal foot morphology	1312	COMT	ORPHA:567
HP:0001760	Abnormal foot morphology	221037	JMJD1C	ORPHA:567
HP:0001760	Abnormal foot morphology	2812	GP1BB	ORPHA:567
HP:0001760	Abnormal foot morphology	6239	RREB1	ORPHA:567
HP:0001760	Abnormal foot morphology	7290	HIRA	ORPHA:567
HP:0001760	Abnormal foot morphology	9632	SEC24C	ORPHA:567
HP:0001760	Abnormal foot morphology	7353	UFD1	ORPHA:567
HP:0001760	Abnormal foot morphology	421	ARVCF	ORPHA:567
HP:0001760	Abnormal foot morphology	4547	MTTP	ORPHA:14
HP:0001760	Abnormal foot morphology	2064	ERBB2	OMIM:619465
HP:0001760	Abnormal foot morphology	84896	ATAD1	OMIM:618011
HP:0001760	Abnormal foot morphology	23594	ORC6	OMIM:613803
HP:0001760	Abnormal foot morphology	80347	COASY	OMIM:618266
HP:0001760	Abnormal foot morphology	54809	SAMD9	OMIM:617053
HP:0001760	Abnormal foot morphology	29895	MYL11	OMIM:619110
HP:0001760	Abnormal foot morphology	6711	SPTBN1	OMIM:619475
HP:0001760	Abnormal foot morphology	25839	COG4	OMIM:618150
HP:0001760	Abnormal foot morphology	25839	COG4	ORPHA:85172
HP:0001760	Abnormal foot morphology	113189	CHST14	OMIM:601776
HP:0001760	Abnormal foot morphology	2571	GAD1	OMIM:619124
HP:0001760	Abnormal foot morphology	57477	SHROOM4	ORPHA:85288
HP:0001760	Abnormal foot morphology	50485	SMARCAL1	OMIM:242900
HP:0001760	Abnormal foot morphology	80267	EDEM3	OMIM:619493
HP:0001760	Abnormal foot morphology	2733	GLE1	OMIM:611890
HP:0001760	Abnormal foot morphology	60386	SLC25A19	OMIM:613710
HP:0001760	Abnormal foot morphology	1968	EIF2S3	ORPHA:85282
HP:0001760	Abnormal foot morphology	8516	ITGA8	OMIM:191830
HP:0001760	Abnormal foot morphology	25793	FBXO7	OMIM:260300
HP:0001760	Abnormal foot morphology	25793	FBXO7	ORPHA:171695
HP:0001760	Abnormal foot morphology	4233	MET	OMIM:620019
HP:0001760	Abnormal foot morphology	2643	GCH1	OMIM:128230
HP:0001760	Abnormal foot morphology	2643	GCH1	ORPHA:98808
HP:0001760	Abnormal foot morphology	7355	SLC35A2	ORPHA:356961
HP:0001760	Abnormal foot morphology	80199	FUZ	ORPHA:3027
HP:0001760	Abnormal foot morphology	5352	PLOD2	OMIM:609220
HP:0001760	Abnormal foot morphology	5352	PLOD2	ORPHA:2771
HP:0001760	Abnormal foot morphology	6812	STXBP1	ORPHA:495818
HP:0001760	Abnormal foot morphology	22858	CILK1	OMIM:612651
HP:0001760	Abnormal foot morphology	55788	LMBRD1	OMIM:277380
HP:0001760	Abnormal foot morphology	274	BIN1	OMIM:255200
HP:0001760	Abnormal foot morphology	274	BIN1	ORPHA:169186
HP:0001760	Abnormal foot morphology	5119	CHMP1A	OMIM:614961
HP:0001760	Abnormal foot morphology	23522	KAT6B	OMIM:606170
HP:0001760	Abnormal foot morphology	23522	KAT6B	ORPHA:85201
HP:0001760	Abnormal foot morphology	118813	ZFYVE27	OMIM:610244
HP:0001760	Abnormal foot morphology	79813	EHMT1	OMIM:610253
HP:0001760	Abnormal foot morphology	79867	TCTN2	OMIM:613885
HP:0001760	Abnormal foot morphology	79867	TCTN2	OMIM:616654
HP:0001760	Abnormal foot morphology	53834	FGFRL1	OMIM:194190
HP:0001760	Abnormal foot morphology	121512	FGD4	OMIM:609311
HP:0001760	Abnormal foot morphology	4593	MUSK	OMIM:208150
HP:0001760	Abnormal foot morphology	5828	PEX2	OMIM:614866
HP:0001760	Abnormal foot morphology	79753	SNIP1	OMIM:614501
HP:0001760	Abnormal foot morphology	55670	PEX26	OMIM:614872
HP:0001760	Abnormal foot morphology	3911	LAMA5	OMIM:620076
HP:0001760	Abnormal foot morphology	9101	USP8	ORPHA:401795
HP:0001760	Abnormal foot morphology	2121	EVC	OMIM:225500
HP:0001760	Abnormal foot morphology	132884	EVC2	OMIM:225500
HP:0001760	Abnormal foot morphology	3977	LIFR	ORPHA:3206
HP:0001760	Abnormal foot morphology	6611	SMS	OMIM:309583
HP:0001760	Abnormal foot morphology	55679	LIMS2	OMIM:616827
HP:0001760	Abnormal foot morphology	9775	EIF4A3	OMIM:268305
HP:0001760	Abnormal foot morphology	6622	SNCA	ORPHA:171695
HP:0001760	Abnormal foot morphology	667	DST	OMIM:614653
HP:0001760	Abnormal foot morphology	57410	SCYL1	OMIM:616719
HP:0001760	Abnormal foot morphology	57410	SCYL1	ORPHA:466794
HP:0001760	Abnormal foot morphology	3315	HSPB1	ORPHA:99940
HP:0001760	Abnormal foot morphology	10290	SPEG	ORPHA:169186
HP:0001760	Abnormal foot morphology	579	NKX3-2	OMIM:613330
HP:0001760	Abnormal foot morphology	9150	CTDP1	OMIM:604168
HP:0001760	Abnormal foot morphology	54820	NDE1	OMIM:605013
HP:0001760	Abnormal foot morphology	2891	GRIA2	OMIM:618917
HP:0001760	Abnormal foot morphology	101929726	MYMX	ORPHA:1358
HP:0001760	Abnormal foot morphology	5530	PPP3CA	OMIM:617711
HP:0001760	Abnormal foot morphology	57211	ADGRG6	OMIM:616503
HP:0001760	Abnormal foot morphology	284086	NEK8	OMIM:615415
HP:0001760	Abnormal foot morphology	27077	B9D1	OMIM:614209
HP:0001760	Abnormal foot morphology	79576	NKAP	OMIM:301039
HP:0001760	Abnormal foot morphology	57531	HACE1	OMIM:616756
HP:0001760	Abnormal foot morphology	9419	CRIPT	OMIM:615789
HP:0001760	Abnormal foot morphology	29980	DONSON	OMIM:251230
HP:0001760	Abnormal foot morphology	340075	ARSI	ORPHA:401815
HP:0001760	Abnormal foot morphology	57545	CC2D2A	OMIM:612284
HP:0001760	Abnormal foot morphology	4929	NR4A2	ORPHA:98808
HP:0001760	Abnormal foot morphology	3615	IMPDH2	ORPHA:98808
HP:0001760	Abnormal foot morphology	285175	UNC80	ORPHA:371364
HP:0001760	Abnormal foot morphology	953	ENTPD1	OMIM:615683
HP:0001760	Abnormal foot morphology	10293	TRAIP	OMIM:616777
HP:0001760	Abnormal foot morphology	8292	COLQ	ORPHA:98915
HP:0001760	Abnormal foot morphology	3913	LAMB2	ORPHA:98915
HP:0001760	Abnormal foot morphology	54676	GTPBP2	OMIM:617988
HP:0001760	Abnormal foot morphology	139285	AMER1	OMIM:300373
HP:0001760	Abnormal foot morphology	2990	GUSB	OMIM:253220
HP:0001760	Abnormal foot morphology	55191	NADSYN1	OMIM:618845
HP:0001760	Abnormal foot morphology	9939	RBM8A	OMIM:274000
HP:0001760	Abnormal foot morphology	1807	DPYS	OMIM:222748
HP:0001760	Abnormal foot morphology	523	ATP6V1A	OMIM:617403
HP:0001760	Abnormal foot morphology	547	KIF1A	OMIM:614255
HP:0001760	Abnormal foot morphology	8449	DHX16	OMIM:618733
HP:0001760	Abnormal foot morphology	64374	SIL1	OMIM:248800
HP:0001760	Abnormal foot morphology	4359	MPZ	OMIM:618184
HP:0001760	Abnormal foot morphology	4359	MPZ	OMIM:145900
HP:0001760	Abnormal foot morphology	8367	H4C5	OMIM:619950
HP:0001760	Abnormal foot morphology	83932	SPRTN	OMIM:616200
HP:0001760	Abnormal foot morphology	128674	PROKR2	OMIM:244200
HP:0001760	Abnormal foot morphology	128674	PROKR2	ORPHA:478
HP:0001760	Abnormal foot morphology	2132	EXT2	OMIM:616682
HP:0001760	Abnormal foot morphology	22880	MORC2	OMIM:616688
HP:0001760	Abnormal foot morphology	51126	NAA20	OMIM:619717
HP:0001760	Abnormal foot morphology	2904	GRIN2B	OMIM:613970
HP:0001760	Abnormal foot morphology	10159	ATP6AP2	ORPHA:93952
HP:0001760	Abnormal foot morphology	1299	COL9A3	OMIM:620022
HP:0001760	Abnormal foot morphology	3190	HNRNPK	ORPHA:453504
HP:0001760	Abnormal foot morphology	3190	HNRNPK	ORPHA:352665
HP:0001760	Abnormal foot morphology	7879	RAB7A	OMIM:600882
HP:0001760	Abnormal foot morphology	116931	MED12L	OMIM:618872
HP:0001760	Abnormal foot morphology	1278	COL1A2	ORPHA:230851
HP:0001760	Abnormal foot morphology	1278	COL1A2	OMIM:617821
HP:0001760	Abnormal foot morphology	1278	COL1A2	OMIM:225320
HP:0001760	Abnormal foot morphology	3021	H3-3B	OMIM:619721
HP:0001760	Abnormal foot morphology	80816	ASXL3	OMIM:615485
HP:0001760	Abnormal foot morphology	80816	ASXL3	ORPHA:352577
HP:0001760	Abnormal foot morphology	55690	PACS1	OMIM:615009
HP:0001760	Abnormal foot morphology	55690	PACS1	ORPHA:329224
HP:0001760	Abnormal foot morphology	25782	RAB3GAP2	OMIM:212720
HP:0001760	Abnormal foot morphology	29925	GMPPB	ORPHA:353327
HP:0001760	Abnormal foot morphology	2673	GFPT1	ORPHA:353327
HP:0001760	Abnormal foot morphology	1798	DPAGT1	ORPHA:353327
HP:0001760	Abnormal foot morphology	85365	ALG2	ORPHA:353327
HP:0001760	Abnormal foot morphology	85365	ALG2	OMIM:616228
HP:0001760	Abnormal foot morphology	199857	ALG14	ORPHA:353327
HP:0001760	Abnormal foot morphology	6197	RPS6KA3	OMIM:303600
HP:0001760	Abnormal foot morphology	6197	RPS6KA3	ORPHA:192
HP:0001760	Abnormal foot morphology	7345	UCHL1	OMIM:615491
HP:0001760	Abnormal foot morphology	284058	KANSL1	ORPHA:363958
HP:0001760	Abnormal foot morphology	284058	KANSL1	ORPHA:363965
HP:0001760	Abnormal foot morphology	54453	RIN2	OMIM:613075
HP:0001760	Abnormal foot morphology	54453	RIN2	ORPHA:217335
HP:0001760	Abnormal foot morphology	3899	AFF3	OMIM:619297
HP:0001760	Abnormal foot morphology	84665	MYPN	ORPHA:171881
HP:0001760	Abnormal foot morphology	7436	VLDLR	OMIM:224050
HP:0001760	Abnormal foot morphology	1801	DPH1	OMIM:616901
HP:0001760	Abnormal foot morphology	1801	DPH1	ORPHA:459061
HP:0001760	Abnormal foot morphology	1183	CLCN4	ORPHA:485350
HP:0001760	Abnormal foot morphology	7840	ALMS1	OMIM:203800
HP:0001760	Abnormal foot morphology	7840	ALMS1	ORPHA:64
HP:0001760	Abnormal foot morphology	157680	VPS13B	OMIM:216550
HP:0001760	Abnormal foot morphology	1277	COL1A1	ORPHA:287
HP:0001760	Abnormal foot morphology	1277	COL1A1	OMIM:130060
HP:0001760	Abnormal foot morphology	1289	COL5A1	ORPHA:287
HP:0001760	Abnormal foot morphology	1289	COL5A1	OMIM:619329
HP:0001760	Abnormal foot morphology	1289	COL5A1	OMIM:130000
HP:0001760	Abnormal foot morphology	1290	COL5A2	ORPHA:287
HP:0001760	Abnormal foot morphology	10484	SEC23A	OMIM:607812
HP:0001760	Abnormal foot morphology	10484	SEC23A	ORPHA:50814
HP:0001760	Abnormal foot morphology	23203	PMPCA	ORPHA:1170
HP:0001760	Abnormal foot morphology	1311	COMP	OMIM:132400
HP:0001760	Abnormal foot morphology	6999	TDO2	OMIM:600627
HP:0001760	Abnormal foot morphology	54872	PIGG	ORPHA:488635
HP:0001760	Abnormal foot morphology	3340	NDST1	OMIM:616116
HP:0001760	Abnormal foot morphology	200734	SPRED2	OMIM:619745
HP:0001760	Abnormal foot morphology	124512	METTL23	OMIM:615942
HP:0001760	Abnormal foot morphology	64132	XYLT2	ORPHA:85194
HP:0001760	Abnormal foot morphology	64132	XYLT2	OMIM:605822
HP:0001760	Abnormal foot morphology	175	AGA	ORPHA:93
HP:0001760	Abnormal foot morphology	4247	MGAT2	OMIM:212066
HP:0001760	Abnormal foot morphology	6335	SCN9A	ORPHA:36387
HP:0001760	Abnormal foot morphology	6335	SCN9A	ORPHA:33069
HP:0001760	Abnormal foot morphology	112755	STX1B	ORPHA:36387
HP:0001760	Abnormal foot morphology	6326	SCN2A	ORPHA:36387
HP:0001760	Abnormal foot morphology	6326	SCN2A	ORPHA:33069
HP:0001760	Abnormal foot morphology	6323	SCN1A	ORPHA:36387
HP:0001760	Abnormal foot morphology	6323	SCN1A	ORPHA:33069
HP:0001760	Abnormal foot morphology	6324	SCN1B	ORPHA:36387
HP:0001760	Abnormal foot morphology	6324	SCN1B	ORPHA:33069
HP:0001760	Abnormal foot morphology	348980	HCN1	ORPHA:36387
HP:0001760	Abnormal foot morphology	84059	ADGRV1	ORPHA:36387
HP:0001760	Abnormal foot morphology	2566	GABRG2	ORPHA:36387
HP:0001760	Abnormal foot morphology	2566	GABRG2	ORPHA:33069
HP:0001760	Abnormal foot morphology	51114	ZDHHC9	OMIM:300799
HP:0001760	Abnormal foot morphology	55621	TRMT1	OMIM:618302
HP:0001760	Abnormal foot morphology	85301	COL27A1	OMIM:615155
HP:0001760	Abnormal foot morphology	10717	AP4B1	OMIM:614066
HP:0001760	Abnormal foot morphology	10717	AP4B1	ORPHA:280763
HP:0001760	Abnormal foot morphology	55773	TBC1D23	OMIM:617695
HP:0001760	Abnormal foot morphology	57680	CHD8	OMIM:615032
HP:0001760	Abnormal foot morphology	8558	CDK10	OMIM:617694
HP:0001760	Abnormal foot morphology	5593	PRKG2	OMIM:619638
HP:0001760	Abnormal foot morphology	55699	IARS2	OMIM:616007
HP:0001760	Abnormal foot morphology	8363	H4C11	OMIM:619759
HP:0001760	Abnormal foot morphology	57863	CADM3	OMIM:619519
HP:0001760	Abnormal foot morphology	6804	STX1A	ORPHA:904
HP:0001760	Abnormal foot morphology	7461	CLIP2	ORPHA:904
HP:0001760	Abnormal foot morphology	84277	DNAJC30	ORPHA:904
HP:0001760	Abnormal foot morphology	8468	FKBP6	ORPHA:904
HP:0001760	Abnormal foot morphology	5982	RFC2	ORPHA:904
HP:0001760	Abnormal foot morphology	2969	GTF2I	ORPHA:904
HP:0001760	Abnormal foot morphology	3984	LIMK1	ORPHA:904
HP:0001760	Abnormal foot morphology	9569	GTF2IRD1	ORPHA:904
HP:0001760	Abnormal foot morphology	155382	VPS37D	ORPHA:904
HP:0001760	Abnormal foot morphology	155368	METTL27	ORPHA:904
HP:0001760	Abnormal foot morphology	114049	BUD23	ORPHA:904
HP:0001760	Abnormal foot morphology	7458	EIF4H	ORPHA:904
HP:0001760	Abnormal foot morphology	84163	GTF2IRD2	ORPHA:904
HP:0001760	Abnormal foot morphology	9275	BCL7B	ORPHA:904
HP:0001760	Abnormal foot morphology	26608	TBL2	ORPHA:904
HP:0001760	Abnormal foot morphology	653361	NCF1	ORPHA:904
HP:0001760	Abnormal foot morphology	135886	TMEM270	ORPHA:904
HP:0001760	Abnormal foot morphology	51085	MLXIPL	ORPHA:904
HP:0001760	Abnormal foot morphology	9031	BAZ1B	ORPHA:904
HP:0001760	Abnormal foot morphology	2006	ELN	ORPHA:904
HP:0001760	Abnormal foot morphology	2006	ELN	ORPHA:90348
HP:0001760	Abnormal foot morphology	2006	ELN	ORPHA:91387
HP:0001760	Abnormal foot morphology	3098	HK1	OMIM:618547
HP:0001760	Abnormal foot morphology	54499	TMCO1	OMIM:213980
HP:0001760	Abnormal foot morphology	23137	SMC5	OMIM:620185
HP:0001760	Abnormal foot morphology	55027	HEATR3	OMIM:620072
HP:0001760	Abnormal foot morphology	51611	DPH5	OMIM:620070
HP:0001760	Abnormal foot morphology	6305	SBF1	OMIM:615284
HP:0001760	Abnormal foot morphology	1742	DLG4	OMIM:618793
HP:0001760	Abnormal foot morphology	4849	CNOT3	OMIM:618672
HP:0001760	Abnormal foot morphology	9158	FIBP	OMIM:617107
HP:0001760	Abnormal foot morphology	400916	CHCHD10	OMIM:615048
HP:0001760	Abnormal foot morphology	200424	TET3	OMIM:618798
HP:0001760	Abnormal foot morphology	2542	SLC37A4	OMIM:619525
HP:0001760	Abnormal foot morphology	11107	PRDM5	ORPHA:90354
HP:0001760	Abnormal foot morphology	5373	PMM2	ORPHA:79318
HP:0001760	Abnormal foot morphology	11117	EMILIN1	OMIM:620080
HP:0001760	Abnormal foot morphology	7030	TFE3	OMIM:301066
HP:0001760	Abnormal foot morphology	254065	BRWD3	OMIM:300659
HP:0001760	Abnormal foot morphology	546	ATRX	OMIM:309580
HP:0001760	Abnormal foot morphology	57479	PRR12	OMIM:619539
HP:0001760	Abnormal foot morphology	10516	FBLN5	ORPHA:90348
HP:0001760	Abnormal foot morphology	5832	ALDH18A1	ORPHA:90348
HP:0001760	Abnormal foot morphology	4088	SMAD3	OMIM:613795
HP:0001760	Abnormal foot morphology	4088	SMAD3	ORPHA:284984
HP:0001760	Abnormal foot morphology	4088	SMAD3	ORPHA:91387
HP:0001760	Abnormal foot morphology	7048	TGFBR2	OMIM:610168
HP:0001760	Abnormal foot morphology	7048	TGFBR2	ORPHA:60030
HP:0001760	Abnormal foot morphology	7048	TGFBR2	ORPHA:91387
HP:0001760	Abnormal foot morphology	81846	SBF2	ORPHA:99956
HP:0001760	Abnormal foot morphology	51322	WAC	ORPHA:466950
HP:0001760	Abnormal foot morphology	387733	IFITM5	OMIM:610967
HP:0001760	Abnormal foot morphology	6567	SLC16A2	ORPHA:59
HP:0001760	Abnormal foot morphology	6567	SLC16A2	OMIM:300523
HP:0001760	Abnormal foot morphology	3897	L1CAM	OMIM:304100
HP:0001760	Abnormal foot morphology	4883	NPR3	OMIM:619543
HP:0001760	Abnormal foot morphology	54344	DPM3	ORPHA:263494
HP:0001760	Abnormal foot morphology	26580	BSCL2	ORPHA:100998
HP:0001760	Abnormal foot morphology	91252	SLC39A13	OMIM:612350
HP:0001760	Abnormal foot morphology	7046	TGFBR1	ORPHA:60030
HP:0001760	Abnormal foot morphology	7046	TGFBR1	ORPHA:91387
HP:0001760	Abnormal foot morphology	170302	ARX	OMIM:300419
HP:0001760	Abnormal foot morphology	22907	DHX30	OMIM:617804
HP:0001760	Abnormal foot morphology	79628	SH3TC2	ORPHA:99949
HP:0001760	Abnormal foot morphology	1959	EGR2	OMIM:145900
HP:0001760	Abnormal foot morphology	57716	PRX	OMIM:145900
HP:0001760	Abnormal foot morphology	10371	SEMA3A	ORPHA:478
HP:0001760	Abnormal foot morphology	81848	SPRY4	ORPHA:478
HP:0001760	Abnormal foot morphology	23767	FLRT3	ORPHA:478
HP:0001760	Abnormal foot morphology	79625	NDNF	ORPHA:478
HP:0001760	Abnormal foot morphology	2253	FGF8	ORPHA:478
HP:0001760	Abnormal foot morphology	389549	FEZF1	ORPHA:478
HP:0001760	Abnormal foot morphology	1630	DCC	ORPHA:478
HP:0001760	Abnormal foot morphology	3730	ANOS1	ORPHA:478
HP:0001760	Abnormal foot morphology	54756	IL17RD	ORPHA:478
HP:0001760	Abnormal foot morphology	6663	SOX10	ORPHA:478
HP:0001760	Abnormal foot morphology	285025	CCDC141	ORPHA:478
HP:0001760	Abnormal foot morphology	60675	PROK2	ORPHA:478
HP:0001760	Abnormal foot morphology	55636	CHD7	ORPHA:478
HP:0001760	Abnormal foot morphology	1848	DUSP6	ORPHA:478
HP:0001760	Abnormal foot morphology	6870	TACR3	ORPHA:478
HP:0001760	Abnormal foot morphology	55717	WDR11	ORPHA:478
HP:0001760	Abnormal foot morphology	9394	HS6ST1	ORPHA:478
HP:0001760	Abnormal foot morphology	8820	HESX1	ORPHA:478
HP:0001760	Abnormal foot morphology	8822	FGF17	ORPHA:478
HP:0001760	Abnormal foot morphology	865	CBFB	OMIM:620099
HP:0001760	Abnormal foot morphology	9949	AMMECR1	OMIM:300990
HP:0001760	Abnormal foot morphology	8925	HERC1	OMIM:617011
HP:0001760	Abnormal foot morphology	8925	HERC1	ORPHA:457359
HP:0001760	Abnormal foot morphology	2290	FOXG1	OMIM:613454
HP:0001760	Abnormal foot morphology	55315	SLC29A3	OMIM:602782
HP:0001760	Abnormal foot morphology	55315	SLC29A3	ORPHA:168569
HP:0001760	Abnormal foot morphology	7707	ZNF148	OMIM:617260
HP:0001760	Abnormal foot morphology	60482	SLC5A7	OMIM:617143
HP:0001760	Abnormal foot morphology	63895	PIEZO2	OMIM:617146
HP:0001760	Abnormal foot morphology	2782	GNB1	OMIM:616973
HP:0001760	Abnormal foot morphology	5831	PYCR1	OMIM:614438
HP:0001760	Abnormal foot morphology	5831	PYCR1	ORPHA:2078
HP:0001760	Abnormal foot morphology	3097	HIVEP2	OMIM:616977
HP:0001760	Abnormal foot morphology	137682	NDUFAF6	OMIM:618239
HP:0001760	Abnormal foot morphology	5010	CLDN11	OMIM:619328
HP:0001760	Abnormal foot morphology	55033	FKBP14	OMIM:614557
HP:0001760	Abnormal foot morphology	55033	FKBP14	ORPHA:300179
HP:0001760	Abnormal foot morphology	6301	SARS1	OMIM:617709
HP:0001760	Abnormal foot morphology	5190	PEX6	OMIM:616617
HP:0001760	Abnormal foot morphology	84679	SLC9A7	OMIM:301024
HP:0001760	Abnormal foot morphology	10735	STAG2	OMIM:301022
HP:0001760	Abnormal foot morphology	57551	TAOK1	OMIM:619575
HP:0001760	Abnormal foot morphology	51132	RLIM	OMIM:300978
HP:0001760	Abnormal foot morphology	84068	SLC10A7	OMIM:618363
HP:0001760	Abnormal foot morphology	9820	CUL7	OMIM:273750
HP:0001760	Abnormal foot morphology	191	AHCY	ORPHA:88618
HP:0001760	Abnormal foot morphology	2906	GRIN2D	OMIM:617162
HP:0001760	Abnormal foot morphology	3188	HNRNPH2	OMIM:300986
HP:0001760	Abnormal foot morphology	25	ABL1	OMIM:617602
HP:0001760	Abnormal foot morphology	545	ATR	OMIM:210600
HP:0001760	Abnormal foot morphology	2475	MTOR	ORPHA:457485
HP:0001760	Abnormal foot morphology	23152	CIC	OMIM:617600
HP:0001760	Abnormal foot morphology	9244	CRLF1	OMIM:272430
HP:0001760	Abnormal foot morphology	8812	CCNK	OMIM:618147
HP:0001760	Abnormal foot morphology	2892	GRIA3	ORPHA:364028
HP:0001760	Abnormal foot morphology	2554	GABRA1	ORPHA:33069
HP:0001760	Abnormal foot morphology	57526	PCDH19	ORPHA:33069
HP:0001760	Abnormal foot morphology	7040	TGFB1	ORPHA:1328
HP:0001760	Abnormal foot morphology	8936	WASF1	OMIM:618707
HP:0001760	Abnormal foot morphology	10283	CWC27	ORPHA:166035
HP:0001760	Abnormal foot morphology	4841	NONO	OMIM:300967
HP:0001760	Abnormal foot morphology	4841	NONO	ORPHA:466791
HP:0001760	Abnormal foot morphology	23233	EXOC6B	OMIM:618395
HP:0001760	Abnormal foot morphology	10220	GDF11	OMIM:619122
HP:0001760	Abnormal foot morphology	22995	CEP152	OMIM:613823
HP:0001760	Abnormal foot morphology	113246	C12orf57	OMIM:218340
HP:0001760	Abnormal foot morphology	126792	B3GALT6	OMIM:271640
HP:0001760	Abnormal foot morphology	2617	GARS1	OMIM:600794
HP:0001760	Abnormal foot morphology	9179	AP4M1	ORPHA:280763
HP:0001760	Abnormal foot morphology	11154	AP4S1	ORPHA:280763
HP:0001760	Abnormal foot morphology	23431	AP4E1	ORPHA:280763
HP:0001760	Abnormal foot morphology	11014	KDELR2	OMIM:619131
HP:0001760	Abnormal foot morphology	1315	COPB1	OMIM:619255
HP:0001760	Abnormal foot morphology	1984	EIF5A	OMIM:619376
HP:0001760	Abnormal foot morphology	92344	GORAB	ORPHA:2078
HP:0001760	Abnormal foot morphology	1073	CFL2	OMIM:610687
HP:0001760	Abnormal foot morphology	9997	SCO2	ORPHA:521411
HP:0001760	Abnormal foot morphology	23133	PHF8	OMIM:300263
HP:0001760	Abnormal foot morphology	11011	TLK2	OMIM:618050
HP:0001760	Abnormal foot morphology	8665	EIF3F	OMIM:618295
HP:0001760	Abnormal foot morphology	7043	TGFB3	OMIM:615582
HP:0001760	Abnormal foot morphology	7043	TGFB3	ORPHA:91387
HP:0001760	Abnormal foot morphology	529	ATP6V1E1	OMIM:617402
HP:0001760	Abnormal foot morphology	7042	TGFB2	OMIM:614816
HP:0001760	Abnormal foot morphology	7042	TGFB2	ORPHA:91387
HP:0001760	Abnormal foot morphology	4629	MYH11	ORPHA:91387
HP:0001760	Abnormal foot morphology	4015	LOX	ORPHA:91387
HP:0001760	Abnormal foot morphology	59	ACTA2	ORPHA:91387
HP:0001760	Abnormal foot morphology	5592	PRKG1	ORPHA:91387
HP:0001760	Abnormal foot morphology	2301	FOXE3	ORPHA:91387
HP:0001760	Abnormal foot morphology	4144	MAT2A	ORPHA:91387
HP:0001760	Abnormal foot morphology	23493	HEY2	ORPHA:91387
HP:0001760	Abnormal foot morphology	8076	MFAP5	ORPHA:91387
HP:0001760	Abnormal foot morphology	4638	MYLK	ORPHA:91387
HP:0001760	Abnormal foot morphology	65260	COA7	OMIM:618387
HP:0001760	Abnormal foot morphology	112	ADCY6	OMIM:616287
HP:0001760	Abnormal foot morphology	7415	VCP	ORPHA:435387
HP:0001760	Abnormal foot morphology	7415	VCP	OMIM:616687
HP:0001760	Abnormal foot morphology	1861	TOR1A	OMIM:618947
HP:0001760	Abnormal foot morphology	9927	MFN2	OMIM:609260
HP:0001760	Abnormal foot morphology	50717	DCAF8	OMIM:610100
HP:0001760	Abnormal foot morphology	4897	NRCAM	OMIM:619833
HP:0001760	Abnormal foot morphology	4747	NEFL	OMIM:607684
HP:0001760	Abnormal foot morphology	5375	PMP2	OMIM:618279
HP:0001760	Abnormal foot morphology	23095	KIF1B	OMIM:118210
HP:0001760	Abnormal foot morphology	8566	PDXK	OMIM:618511
HP:0001760	Abnormal foot morphology	3035	HARS1	ORPHA:488333
HP:0001760	Abnormal foot morphology	3035	HARS1	OMIM:616625
HP:0001760	Abnormal foot morphology	90678	LRSAM1	OMIM:614436
HP:0001760	Abnormal foot morphology	11261	CHP1	OMIM:618438
HP:0001760	Abnormal foot morphology	3710	ITPR3	OMIM:620111
HP:0001760	Abnormal foot morphology	26278	SACS	OMIM:270550
HP:0001760	Abnormal foot morphology	10280	SIGMAR1	OMIM:605726
HP:0001760	Abnormal foot morphology	4358	MPV17	OMIM:618400
HP:0001760	Abnormal foot morphology	57449	PLEKHG5	OMIM:615376
HP:0001760	Abnormal foot morphology	3295	HSD17B4	OMIM:261515
HP:0001760	Abnormal foot morphology	59345	GNB4	OMIM:615185
HP:0001760	Abnormal foot morphology	64423	INF2	OMIM:614455
HP:0001760	Abnormal foot morphology	16	AARS1	OMIM:613287
HP:0001760	Abnormal foot morphology	54332	GDAP1	ORPHA:99948
HP:0001760	Abnormal foot morphology	54332	GDAP1	OMIM:214400
HP:0001760	Abnormal foot morphology	54332	GDAP1	OMIM:608340
HP:0001760	Abnormal foot morphology	23443	SLC35A3	ORPHA:370943
HP:0001760	Abnormal foot morphology	168667	BMPER	OMIM:608022
HP:0001760	Abnormal foot morphology	8729	GBF1	OMIM:606483
HP:0001760	Abnormal foot morphology	114548	NLRP3	ORPHA:575
HP:0001760	Abnormal foot morphology	9131	AIFM1	OMIM:300232
HP:0001760	Abnormal foot morphology	23126	POGZ	OMIM:616364
HP:0001760	Abnormal foot morphology	64131	XYLT1	OMIM:615777
HP:0001760	Abnormal foot morphology	84295	PHF6	ORPHA:127
HP:0001760	Abnormal foot morphology	83550	GPR101	ORPHA:963
HP:0001760	Abnormal foot morphology	9049	AIP	ORPHA:963
HP:0001760	Abnormal foot morphology	8726	EED	ORPHA:3447
HP:0001760	Abnormal foot morphology	23512	SUZ12	ORPHA:3447
HP:0001760	Abnormal foot morphology	341640	FREM2	ORPHA:2052
HP:0001760	Abnormal foot morphology	80144	FRAS1	ORPHA:2052
HP:0001760	Abnormal foot morphology	23426	GRIP1	ORPHA:2052
HP:0001760	Abnormal foot morphology	6309	SC5D	ORPHA:46059
HP:0001760	Abnormal foot morphology	6309	SC5D	OMIM:607330
HP:0001760	Abnormal foot morphology	145173	B3GLCT	ORPHA:709
HP:0001760	Abnormal foot morphology	55869	HDAC8	OMIM:300882
HP:0001760	Abnormal foot morphology	55869	HDAC8	ORPHA:199
HP:0001760	Abnormal foot morphology	117581	TWIST2	OMIM:200110
HP:0001760	Abnormal foot morphology	117581	TWIST2	ORPHA:920
HP:0001760	Abnormal foot morphology	3020	H3-3A	OMIM:619720
HP:0001760	Abnormal foot morphology	613	BCR	ORPHA:261330
HP:0001760	Abnormal foot morphology	1399	CRKL	ORPHA:261330
HP:0001760	Abnormal foot morphology	5594	MAPK1	ORPHA:261330
HP:0001760	Abnormal foot morphology	9790	BMS1	ORPHA:1114
HP:0001760	Abnormal foot morphology	10054	UBA2	ORPHA:1114
HP:0001760	Abnormal foot morphology	3691	ITGB4	ORPHA:1114
HP:0001760	Abnormal foot morphology	54567	DLL4	ORPHA:1114
HP:0001760	Abnormal foot morphology	54101	RIPK4	ORPHA:1234
HP:0001760	Abnormal foot morphology	2314	FLII	ORPHA:819
HP:0001760	Abnormal foot morphology	23096	IQSEC2	ORPHA:819
HP:0001760	Abnormal foot morphology	23096	IQSEC2	ORPHA:217377
HP:0001760	Abnormal foot morphology	10225	CD96	OMIM:211750
HP:0001760	Abnormal foot morphology	10225	CD96	ORPHA:1308
HP:0001760	Abnormal foot morphology	324	APC	ORPHA:3258
HP:0001760	Abnormal foot morphology	9126	SMC3	OMIM:610759
HP:0001760	Abnormal foot morphology	9126	SMC3	ORPHA:199
HP:0001760	Abnormal foot morphology	7480	WNT10B	OMIM:225300
HP:0001760	Abnormal foot morphology	7021	TFAP2B	ORPHA:46627
HP:0001760	Abnormal foot morphology	652	BMP4	OMIM:607932
HP:0001760	Abnormal foot morphology	6469	SHH	ORPHA:93405
HP:0001760	Abnormal foot morphology	1954	MEGF8	ORPHA:65759
HP:0001760	Abnormal foot morphology	25942	SIN3A	OMIM:613406
HP:0001760	Abnormal foot morphology	26227	PHGDH	OMIM:256520
HP:0001760	Abnormal foot morphology	23476	BRD4	ORPHA:199
HP:0001760	Abnormal foot morphology	55112	DYNC2I1	ORPHA:474
HP:0001760	Abnormal foot morphology	153241	CEP120	ORPHA:474
HP:0001760	Abnormal foot morphology	57560	IFT80	ORPHA:474
HP:0001760	Abnormal foot morphology	51626	DYNC2LI1	ORPHA:474
HP:0001760	Abnormal foot morphology	79659	DYNC2H1	ORPHA:474
HP:0001760	Abnormal foot morphology	9742	IFT140	ORPHA:474
HP:0001760	Abnormal foot morphology	57728	WDR19	ORPHA:474
HP:0001760	Abnormal foot morphology	89891	DYNC2I2	ORPHA:474
HP:0001760	Abnormal foot morphology	79809	TTC21B	ORPHA:474
HP:0001760	Abnormal foot morphology	3981	LIG4	ORPHA:235
HP:0001760	Abnormal foot morphology	64840	PORCN	OMIM:305600
HP:0001760	Abnormal foot morphology	64840	PORCN	ORPHA:2092
HP:0001760	Abnormal foot morphology	84265	POLR3GL	OMIM:619234
HP:0001760	Abnormal foot morphology	65250	CPLANE1	OMIM:277170
HP:0001760	Abnormal foot morphology	91754	NEK9	ORPHA:64754
HP:0001760	Abnormal foot morphology	57514	ARHGAP31	OMIM:100300
HP:0001760	Abnormal foot morphology	6608	SMO	OMIM:241800
HP:0001760	Abnormal foot morphology	6608	SMO	ORPHA:1553
HP:0001760	Abnormal foot morphology	51633	OTUD6B	ORPHA:505237
HP:0001760	Abnormal foot morphology	374879	ZNF699	OMIM:619488
HP:0001760	Abnormal foot morphology	28957	MRPS28	OMIM:618958
HP:0001760	Abnormal foot morphology	8450	CUL4B	ORPHA:85293
HP:0001760	Abnormal foot morphology	2255	FGF10	ORPHA:2363
HP:0001760	Abnormal foot morphology	79971	WLS	OMIM:619648
HP:0001760	Abnormal foot morphology	407975	MIR17HG	ORPHA:391646
HP:0001760	Abnormal foot morphology	2767	GNA11	ORPHA:1556
HP:0001760	Abnormal foot morphology	151188	ARL6IP6	ORPHA:1556
HP:0001760	Abnormal foot morphology	2719	GPC3	ORPHA:373
HP:0001760	Abnormal foot morphology	3664	IRF6	ORPHA:1300
HP:0001760	Abnormal foot morphology	4087	SMAD2	OMIM:619657
HP:0001760	Abnormal foot morphology	50945	TBX22	ORPHA:921
HP:0001760	Abnormal foot morphology	26123	TCTN3	OMIM:258860
HP:0001760	Abnormal foot morphology	6445	SGCG	ORPHA:353
HP:0001760	Abnormal foot morphology	55906	ZC4H2	OMIM:301041
HP:0001760	Abnormal foot morphology	2273	FHL1	OMIM:300696
HP:0001760	Abnormal foot morphology	2273	FHL1	OMIM:300695
HP:0001760	Abnormal foot morphology	2273	FHL1	ORPHA:98863
HP:0001760	Abnormal foot morphology	7273	TTN	OMIM:603689
HP:0001760	Abnormal foot morphology	339855	KY	OMIM:617114
HP:0001760	Abnormal foot morphology	23516	SLC39A14	OMIM:617013
HP:0001760	Abnormal foot morphology	79912	PYROXD1	OMIM:617258
HP:0001760	Abnormal foot morphology	1756	DMD	OMIM:310200
HP:0001760	Abnormal foot morphology	291	SLC25A4	OMIM:615418
HP:0001760	Abnormal foot morphology	2010	EMD	OMIM:310300
HP:0001760	Abnormal foot morphology	2010	EMD	ORPHA:98863
HP:0001760	Abnormal foot morphology	57679	ALS2	OMIM:607225
HP:0001760	Abnormal foot morphology	4556	MT-TE	ORPHA:2596
HP:0001760	Abnormal foot morphology	9499	MYOT	OMIM:609200
HP:0001760	Abnormal foot morphology	3714	JAG2	OMIM:619566
HP:0001760	Abnormal foot morphology	113179	ADAT3	ORPHA:363528
HP:0001760	Abnormal foot morphology	51506	UFC1	OMIM:618076
HP:0001760	Abnormal foot morphology	2705	GJB1	OMIM:302800
HP:0001760	Abnormal foot morphology	26090	ABHD12	OMIM:612674
HP:0001760	Abnormal foot morphology	2218	FKTN	ORPHA:370980
HP:0001760	Abnormal foot morphology	729920	CRPPA	ORPHA:370980
HP:0001760	Abnormal foot morphology	10585	POMT1	ORPHA:370980
HP:0001760	Abnormal foot morphology	55768	NGLY1	ORPHA:404454
HP:0001760	Abnormal foot morphology	2799	GNS	OMIM:252940
HP:0001760	Abnormal foot morphology	4976	OPA1	OMIM:210000
HP:0001760	Abnormal foot morphology	9215	LARGE1	OMIM:608840
HP:0001760	Abnormal foot morphology	79188	TMEM43	ORPHA:98853
HP:0001760	Abnormal foot morphology	23345	SYNE1	ORPHA:98853
HP:0001760	Abnormal foot morphology	23224	SYNE2	ORPHA:98853
HP:0001760	Abnormal foot morphology	55593	OTUD5	OMIM:301056
HP:0001760	Abnormal foot morphology	9469	CHST3	OMIM:245600
HP:0001760	Abnormal foot morphology	26229	B3GAT3	OMIM:245600
HP:0001760	Abnormal foot morphology	55210	ATAD3A	OMIM:617183
HP:0001760	Abnormal foot morphology	8218	CLTCL1	ORPHA:453510
HP:0001760	Abnormal foot morphology	7920	ABHD16A	OMIM:619735
HP:0001760	Abnormal foot morphology	388015	RTL1	ORPHA:254531
HP:0001760	Abnormal foot morphology	388015	RTL1	ORPHA:254525
HP:0001760	Abnormal foot morphology	388015	RTL1	ORPHA:96184
HP:0001760	Abnormal foot morphology	8788	DLK1	ORPHA:254531
HP:0001760	Abnormal foot morphology	8788	DLK1	ORPHA:254525
HP:0001760	Abnormal foot morphology	8788	DLK1	ORPHA:96184
HP:0001760	Abnormal foot morphology	55384	MEG3	ORPHA:254531
HP:0001760	Abnormal foot morphology	55384	MEG3	ORPHA:254525
HP:0001760	Abnormal foot morphology	55384	MEG3	ORPHA:96184
HP:0001760	Abnormal foot morphology	23111	SPART	OMIM:275900
HP:0001760	Abnormal foot morphology	2245	FGD1	OMIM:305400
HP:0001760	Abnormal foot morphology	2245	FGD1	ORPHA:915
HP:0001760	Abnormal foot morphology	26235	FBXL4	OMIM:615471
HP:0001760	Abnormal foot morphology	124997	WDR81	OMIM:610185
HP:0001760	Abnormal foot morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001760	Abnormal foot morphology	5648	MASP1	OMIM:257920
HP:0001760	Abnormal foot morphology	7681	MKRN3	OMIM:176270
HP:0001760	Abnormal foot morphology	3653	IPW	OMIM:176270
HP:0001760	Abnormal foot morphology	54551	MAGEL2	OMIM:176270
HP:0001760	Abnormal foot morphology	54551	MAGEL2	ORPHA:177904
HP:0001760	Abnormal foot morphology	54551	MAGEL2	ORPHA:177901
HP:0001760	Abnormal foot morphology	54551	MAGEL2	ORPHA:398069
HP:0001760	Abnormal foot morphology	54551	MAGEL2	ORPHA:177910
HP:0001760	Abnormal foot morphology	54551	MAGEL2	OMIM:615547
HP:0001760	Abnormal foot morphology	54551	MAGEL2	ORPHA:98754
HP:0001760	Abnormal foot morphology	791114	PWRN1	OMIM:176270
HP:0001760	Abnormal foot morphology	100033413	SNORD116-1	OMIM:176270
HP:0001760	Abnormal foot morphology	8924	HERC2	OMIM:176270
HP:0001760	Abnormal foot morphology	145624	PWAR1	OMIM:176270
HP:0001760	Abnormal foot morphology	23742	NPAP1	OMIM:176270
HP:0001760	Abnormal foot morphology	338433	SNORD115-1	OMIM:176270
HP:0001760	Abnormal foot morphology	6792	CDKL5	ORPHA:3095
HP:0001760	Abnormal foot morphology	6792	CDKL5	OMIM:300672
HP:0001760	Abnormal foot morphology	22854	NTNG1	ORPHA:3095
HP:0001760	Abnormal foot morphology	9568	GABBR2	ORPHA:3095
HP:0001760	Abnormal foot morphology	9568	GABBR2	OMIM:617903
HP:0001760	Abnormal foot morphology	57539	WDR35	ORPHA:93271
HP:0001760	Abnormal foot morphology	1062	CENPE	OMIM:616051
HP:0001760	Abnormal foot morphology	6651	SON	OMIM:617140
HP:0001760	Abnormal foot morphology	23030	KDM4B	OMIM:619320
HP:0001760	Abnormal foot morphology	6905	TBCE	ORPHA:2323
HP:0001760	Abnormal foot morphology	6905	TBCE	OMIM:241410
HP:0001760	Abnormal foot morphology	6905	TBCE	OMIM:244460
HP:0001760	Abnormal foot morphology	6905	TBCE	ORPHA:93324
HP:0001760	Abnormal foot morphology	6492	SIM1	ORPHA:398079
HP:0001760	Abnormal foot morphology	9382	COG1	OMIM:611209
HP:0001760	Abnormal foot morphology	3549	IHH	ORPHA:93388
HP:0001760	Abnormal foot morphology	55777	MBD5	OMIM:156200
HP:0001760	Abnormal foot morphology	6638	SNRPN	ORPHA:177904
HP:0001760	Abnormal foot morphology	6638	SNRPN	ORPHA:177901
HP:0001760	Abnormal foot morphology	6638	SNRPN	ORPHA:177910
HP:0001760	Abnormal foot morphology	6638	SNRPN	ORPHA:177907
HP:0001760	Abnormal foot morphology	6638	SNRPN	ORPHA:98754
HP:0001760	Abnormal foot morphology	4692	NDN	ORPHA:177904
HP:0001760	Abnormal foot morphology	4692	NDN	ORPHA:177901
HP:0001760	Abnormal foot morphology	4692	NDN	ORPHA:177910
HP:0001760	Abnormal foot morphology	4692	NDN	ORPHA:98754
HP:0001760	Abnormal foot morphology	4948	OCA2	ORPHA:177904
HP:0001760	Abnormal foot morphology	4948	OCA2	ORPHA:177901
HP:0001760	Abnormal foot morphology	4948	OCA2	ORPHA:98754
HP:0001760	Abnormal foot morphology	2590	GALNT2	OMIM:618885
HP:0001760	Abnormal foot morphology	818	CAMK2G	OMIM:618522
HP:0001760	Abnormal foot morphology	80204	FBXO11	OMIM:618089
HP:0001760	Abnormal foot morphology	1778	DYNC1H1	OMIM:614563
HP:0001760	Abnormal foot morphology	3064	HTT	OMIM:617435
HP:0001760	Abnormal foot morphology	10381	TUBB3	ORPHA:300570
HP:0001760	Abnormal foot morphology	84100	ARL6	OMIM:209900
HP:0001760	Abnormal foot morphology	79140	CCDC28B	OMIM:209900
HP:0001760	Abnormal foot morphology	582	BBS1	OMIM:209900
HP:0001760	Abnormal foot morphology	6045	RNF2	OMIM:619460
HP:0001760	Abnormal foot morphology	10943	MSL3	OMIM:301032
HP:0001760	Abnormal foot morphology	633	BGN	OMIM:300106
HP:0001760	Abnormal foot morphology	1301	COL11A1	OMIM:228520
HP:0001760	Abnormal foot morphology	6023	RMRP	OMIM:607095
HP:0001760	Abnormal foot morphology	7874	USP7	ORPHA:500055
HP:0001760	Abnormal foot morphology	8493	PPM1D	OMIM:617450
HP:0001760	Abnormal foot morphology	57003	CCDC47	OMIM:618268
HP:0001760	Abnormal foot morphology	8364	H4C3	OMIM:619758
HP:0001760	Abnormal foot morphology	5590	PRKCZ	ORPHA:1606
HP:0001760	Abnormal foot morphology	2563	GABRD	ORPHA:1606
HP:0001760	Abnormal foot morphology	23013	SPEN	ORPHA:1606
HP:0001760	Abnormal foot morphology	8510	MMP23B	ORPHA:1606
HP:0001760	Abnormal foot morphology	7798	LUZP1	ORPHA:1606
HP:0001760	Abnormal foot morphology	6497	SKI	ORPHA:1606
HP:0001760	Abnormal foot morphology	10630	PDPN	ORPHA:1606
HP:0001760	Abnormal foot morphology	3339	HSPG2	ORPHA:1606
HP:0001760	Abnormal foot morphology	10277	UBE4B	ORPHA:1606
HP:0001760	Abnormal foot morphology	8514	KCNAB2	ORPHA:1606
HP:0001760	Abnormal foot morphology	473	RERE	ORPHA:1606
HP:0001760	Abnormal foot morphology	63976	PRDM16	ORPHA:1606
HP:0001760	Abnormal foot morphology	54897	CASZ1	ORPHA:1606
HP:0001760	Abnormal foot morphology	9719	ADAMTSL2	OMIM:231050
HP:0001760	Abnormal foot morphology	4796	TONSL	ORPHA:93357
HP:0001760	Abnormal foot morphology	55343	SLC35C1	OMIM:266265
HP:0001760	Abnormal foot morphology	7750	ZMYM2	OMIM:619522
HP:0001760	Abnormal foot morphology	3800	KIF5C	OMIM:615282
HP:0001760	Abnormal foot morphology	5159	PDGFRB	OMIM:601812
HP:0001760	Abnormal foot morphology	54928	BPNT2	OMIM:614078
HP:0001760	Abnormal foot morphology	81887	LAS1L	ORPHA:3459
HP:0001760	Abnormal foot morphology	81887	LAS1L	OMIM:309585
HP:0001760	Abnormal foot morphology	6473	SHOX	ORPHA:314795
HP:0001760	Abnormal foot morphology	23162	MAPK8IP3	OMIM:618443
HP:0001760	Abnormal foot morphology	2332	FMR1	ORPHA:261483
HP:0001760	Abnormal foot morphology	147372	CCBE1	OMIM:235510
HP:0001760	Abnormal foot morphology	9130	FAM50A	OMIM:300261
HP:0001760	Abnormal foot morphology	1513	CTSK	ORPHA:763
HP:0001760	Abnormal foot morphology	7227	TRPS1	OMIM:190351
HP:0001760	Abnormal foot morphology	25886	POC1A	OMIM:614813
HP:0001760	Abnormal foot morphology	3480	IGF1R	OMIM:270450
HP:0001760	Abnormal foot morphology	1281	COL3A1	ORPHA:2500
HP:0001760	Abnormal foot morphology	4054	LTBP3	OMIM:617809
HP:0001760	Abnormal foot morphology	10075	HUWE1	OMIM:309590
HP:0001760	Abnormal foot morphology	2036	EPB41L1	OMIM:614257
HP:0001760	Abnormal foot morphology	1718	DHCR24	OMIM:602398
HP:0001760	Abnormal foot morphology	1182	CLCN3	OMIM:619512
HP:0001760	Abnormal foot morphology	84879	MFSD2A	OMIM:616486
HP:0001760	Abnormal foot morphology	348180	CTU2	OMIM:618142
HP:0001760	Abnormal foot morphology	340419	RSPO2	OMIM:618022
HP:0001760	Abnormal foot morphology	23040	MYT1L	OMIM:616521
HP:0001760	Abnormal foot morphology	4125	MAN2B1	ORPHA:309282
HP:0001760	Abnormal foot morphology	285590	SH3PXD2B	OMIM:249420
HP:0001760	Abnormal foot morphology	10730	YME1L1	OMIM:617302
HP:0001760	Abnormal foot morphology	7547	ZIC3	OMIM:306955
HP:0001760	Abnormal foot morphology	342035	GLDN	OMIM:617194
HP:0001760	Abnormal foot morphology	4123	MAN2C1	OMIM:619775
HP:0001760	Abnormal foot morphology	29940	DSE	OMIM:615539
HP:0001760	Abnormal foot morphology	81839	VANGL1	OMIM:600145
HP:0001760	Abnormal foot morphology	1496	CTNNA2	OMIM:618174
HP:0001760	Abnormal foot morphology	8985	PLOD3	OMIM:612394
HP:0001760	Abnormal foot morphology	2720	GLB1	OMIM:253010
HP:0001760	Abnormal foot morphology	58497	PRUNE1	ORPHA:544469
HP:0001760	Abnormal foot morphology	9230	RAB11B	OMIM:617807
HP:0001760	Abnormal foot morphology	246329	STAC3	OMIM:255995
HP:0001760	Abnormal foot morphology	8241	RBM10	OMIM:311900
HP:0001760	Abnormal foot morphology	11284	PNKP	ORPHA:459033
HP:0001760	Abnormal foot morphology	3845	KRAS	OMIM:163200
HP:0001760	Abnormal foot morphology	4893	NRAS	OMIM:163200
HP:0001760	Abnormal foot morphology	81794	ADAMTS10	OMIM:277600
HP:0001760	Abnormal foot morphology	132	ADK	OMIM:614300
HP:0001760	Abnormal foot morphology	10084	PQBP1	OMIM:309500
HP:0001760	Abnormal foot morphology	6938	TCF12	OMIM:615314
HP:0001760	Abnormal foot morphology	57122	NUP107	OMIM:618348
HP:0001760	Abnormal foot morphology	5728	PTEN	ORPHA:744
HP:0001760	Abnormal foot morphology	2077	ERF	OMIM:617180
HP:0001760	Abnormal foot morphology	56098	PCDHGC4	OMIM:619880
HP:0001760	Abnormal foot morphology	83737	ITCH	OMIM:613385
HP:0001760	Abnormal foot morphology	55780	ERMARD	ORPHA:75857
HP:0001760	Abnormal foot morphology	6736	SRY	ORPHA:1772
HP:0001760	Abnormal foot morphology	79600	TCTN1	ORPHA:475
HP:0001760	Abnormal foot morphology	79848	CSPP1	ORPHA:475
HP:0001760	Abnormal foot morphology	54806	AHI1	ORPHA:475
HP:0001760	Abnormal foot morphology	54806	AHI1	ORPHA:220493
HP:0001760	Abnormal foot morphology	91147	TMEM67	ORPHA:475
HP:0001760	Abnormal foot morphology	200894	ARL13B	ORPHA:475
HP:0001760	Abnormal foot morphology	9731	CEP104	ORPHA:475
HP:0001760	Abnormal foot morphology	23247	KATNIP	ORPHA:475
HP:0001760	Abnormal foot morphology	219854	TMEM218	ORPHA:475
HP:0001760	Abnormal foot morphology	54903	MKS1	ORPHA:475
HP:0001760	Abnormal foot morphology	54903	MKS1	OMIM:249000
HP:0001760	Abnormal foot morphology	54903	MKS1	ORPHA:220493
HP:0001760	Abnormal foot morphology	95681	CEP41	ORPHA:475
HP:0001760	Abnormal foot morphology	95681	CEP41	ORPHA:220493
HP:0001760	Abnormal foot morphology	9786	KIAA0586	ORPHA:475
HP:0001760	Abnormal foot morphology	56623	INPP5E	ORPHA:475
HP:0001760	Abnormal foot morphology	56623	INPP5E	ORPHA:220493
HP:0001760	Abnormal foot morphology	80776	B9D2	ORPHA:475
HP:0001760	Abnormal foot morphology	10464	PIBF1	ORPHA:475
HP:0001760	Abnormal foot morphology	80210	ARMC9	ORPHA:475
HP:0001760	Abnormal foot morphology	23116	TOGARAM1	ORPHA:475
HP:0001760	Abnormal foot morphology	25776	CBY1	ORPHA:475
HP:0001760	Abnormal foot morphology	403	ARL3	ORPHA:475
HP:0001760	Abnormal foot morphology	65062	TMEM237	ORPHA:475
HP:0001760	Abnormal foot morphology	65062	TMEM237	ORPHA:2318
HP:0001760	Abnormal foot morphology	51524	TMEM138	ORPHA:2318
HP:0001760	Abnormal foot morphology	23090	ZNF423	ORPHA:2318
HP:0001760	Abnormal foot morphology	80184	CEP290	ORPHA:2318
HP:0001760	Abnormal foot morphology	10210	TOPORS	ORPHA:2754
HP:0001760	Abnormal foot morphology	317662	FAM149B1	ORPHA:2754
HP:0001760	Abnormal foot morphology	5566	PRKACA	ORPHA:289
HP:0001760	Abnormal foot morphology	5567	PRKACB	ORPHA:289
HP:0001760	Abnormal foot morphology	2735	GLI1	ORPHA:289
HP:0001760	Abnormal foot morphology	26154	ABCA12	ORPHA:457
HP:0001760	Abnormal foot morphology	2137	EXTL3	ORPHA:508533
HP:0001760	Abnormal foot morphology	79770	TXNDC15	OMIM:619879
HP:0001760	Abnormal foot morphology	79770	TXNDC15	ORPHA:564
HP:0001760	Abnormal foot morphology	23322	RPGRIP1L	OMIM:611561
HP:0001760	Abnormal foot morphology	23322	RPGRIP1L	ORPHA:564
HP:0001760	Abnormal foot morphology	80173	IFT74	OMIM:617119
HP:0001760	Abnormal foot morphology	84314	TMEM107	ORPHA:564
HP:0001760	Abnormal foot morphology	84314	TMEM107	OMIM:617563
HP:0001760	Abnormal foot morphology	57096	RPGRIP1	ORPHA:564
HP:0001760	Abnormal foot morphology	27031	NPHP3	OMIM:267010
HP:0001760	Abnormal foot morphology	285600	KIAA0825	OMIM:618498
HP:0001760	Abnormal foot morphology	583	BBS2	OMIM:615981
HP:0001760	Abnormal foot morphology	137392	CIBAR1	OMIM:618219
HP:0001760	Abnormal foot morphology	7700	ZNF141	OMIM:615226
HP:0001760	Abnormal foot morphology	166379	BBS12	OMIM:615989
HP:0001760	Abnormal foot morphology	27241	BBS9	OMIM:615986
HP:0001760	Abnormal foot morphology	255758	DYNLT2B	OMIM:617405
HP:0001760	Abnormal foot morphology	5896	RAG1	ORPHA:39041
HP:0001760	Abnormal foot morphology	5897	RAG2	ORPHA:39041
HP:0001760	Abnormal foot morphology	64421	DCLRE1C	ORPHA:39041
HP:0001760	Abnormal foot morphology	100	ADA	ORPHA:39041
HP:0001760	Abnormal foot morphology	3575	IL7R	ORPHA:39041
HP:0001760	Abnormal foot morphology	3561	IL2RG	ORPHA:39041
HP:0001760	Abnormal foot morphology	1788	DNMT3A	ORPHA:404443
HP:0001760	Abnormal foot morphology	23384	SPECC1L	ORPHA:1519
HP:0001760	Abnormal foot morphology	55650	PIGV	OMIM:239300
HP:0001760	Abnormal foot morphology	9509	ADAMTS2	OMIM:225410
HP:0001760	Abnormal foot morphology	375056	MIA3	OMIM:619269
HP:0001760	Abnormal foot morphology	2778	GNAS	OMIM:103580
HP:0001760	Abnormal foot morphology	2690	GHR	ORPHA:633
HP:0001760	Abnormal foot morphology	3835	KIF22	ORPHA:93360
HP:0001760	Abnormal foot morphology	6775	STAT4	ORPHA:85408
HP:0001760	Abnormal foot morphology	3560	IL2RB	ORPHA:85408
HP:0001760	Abnormal foot morphology	79722	ANKRD55	ORPHA:85408
HP:0001760	Abnormal foot morphology	26191	PTPN22	ORPHA:85408
HP:0001760	Abnormal foot morphology	919	CD247	ORPHA:85408
HP:0001760	Abnormal foot morphology	3559	IL2RA	ORPHA:85408
HP:0001760	Abnormal foot morphology	5771	PTPN2	ORPHA:85408
HP:0001760	Abnormal foot morphology	65109	UPF3B	OMIM:300676
HP:0001760	Abnormal foot morphology	440	ASNS	OMIM:615574
HP:0001760	Abnormal foot morphology	3643	INSR	OMIM:246200
HP:0001760	Abnormal foot morphology	3643	INSR	ORPHA:508
HP:0001760	Abnormal foot morphology	5468	PPARG	ORPHA:528
HP:0001760	Abnormal foot morphology	10555	AGPAT2	ORPHA:528
HP:0001760	Abnormal foot morphology	10555	AGPAT2	OMIM:608594
HP:0001760	Abnormal foot morphology	284119	CAVIN1	ORPHA:528
HP:0001760	Abnormal foot morphology	2353	FOS	ORPHA:528
HP:0001760	Abnormal foot morphology	4221	MEN1	ORPHA:99725
HP:0001760	Abnormal foot morphology	23265	EXOC7	OMIM:619072
HP:0001760	Abnormal foot morphology	285489	DOK7	OMIM:618389
HP:0001760	Abnormal foot morphology	6659	SOX4	OMIM:618506
HP:0001760	Abnormal foot morphology	55627	SMPD4	OMIM:618622
HP:0001760	Abnormal foot morphology	81031	SLC2A10	ORPHA:3342
HP:0001760	Abnormal foot morphology	7486	WRN	ORPHA:902
HP:0001760	Abnormal foot morphology	4927	NUP88	OMIM:618393
HP:0001760	Abnormal foot morphology	4094	MAF	ORPHA:1272
HP:0001760	Abnormal foot morphology	10436	EMG1	ORPHA:1270
HP:0001760	Abnormal foot morphology	10436	EMG1	OMIM:211180
HP:0001760	Abnormal foot morphology	5649	RELN	ORPHA:89844
HP:0001760	Abnormal foot morphology	10300	KATNB1	ORPHA:89844
HP:0001760	Abnormal foot morphology	9928	KIF14	OMIM:616258
HP:0001760	Abnormal foot morphology	2068	ERCC2	OMIM:610756
HP:0001760	Abnormal foot morphology	23511	NUP188	OMIM:618804
HP:0001760	Abnormal foot morphology	91647	ATPAF2	OMIM:604273
HP:0001760	Abnormal foot morphology	89910	UBE3B	OMIM:244450
HP:0001760	Abnormal foot morphology	84823	LMNB2	OMIM:619180
HP:0001760	Abnormal foot morphology	65125	WNK1	ORPHA:970
HP:0001760	Abnormal foot morphology	65125	WNK1	OMIM:201300
HP:0001760	Abnormal foot morphology	54463	RETREG1	ORPHA:970
HP:0001760	Abnormal foot morphology	54463	RETREG1	OMIM:201300
HP:0001760	Abnormal foot morphology	998	CDC42	ORPHA:487796
HP:0001760	Abnormal foot morphology	998	CDC42	OMIM:616737
HP:0001760	Abnormal foot morphology	118987	PDZD8	OMIM:620021
HP:0001760	Abnormal foot morphology	79228	THOC6	ORPHA:363444
HP:0001760	Abnormal foot morphology	6647	SOD1	OMIM:618598
HP:0001760	Abnormal foot morphology	9772	TMEM94	OMIM:618316
HP:0001760	Abnormal foot morphology	22930	RAB3GAP1	OMIM:600118
HP:0001760	Abnormal foot morphology	22930	RAB3GAP1	OMIM:619420
HP:0001760	Abnormal foot morphology	54916	TMEM260	OMIM:617478
HP:0001760	Abnormal foot morphology	129285	PPP1R21	OMIM:619383
HP:0001760	Abnormal foot morphology	171023	ASXL1	OMIM:605039
HP:0001760	Abnormal foot morphology	26100	WIPI2	OMIM:618453
HP:0001760	Abnormal foot morphology	26173	INTS1	OMIM:618571
HP:0001760	Abnormal foot morphology	1822	ATN1	OMIM:618494
HP:0001760	Abnormal foot morphology	55656	INTS8	OMIM:618572
HP:0001760	Abnormal foot morphology	84148	KAT8	OMIM:618974
HP:0001760	Abnormal foot morphology	4654	MYOD1	OMIM:618975
HP:0001760	Abnormal foot morphology	2770	GNAI1	OMIM:619854
HP:0001760	Abnormal foot morphology	79759	ZNF668	OMIM:620194
HP:0001760	Abnormal foot morphology	5573	PRKAR1A	OMIM:101800
HP:0001760	Abnormal foot morphology	56975	FAM20C	OMIM:259775
HP:0001760	Abnormal foot morphology	92949	ADAMTSL1	ORPHA:521445
HP:0001760	Abnormal foot morphology	2131	EXT1	ORPHA:321
HP:0001760	Abnormal foot morphology	7528	YY1	ORPHA:506358
HP:0001760	Abnormal foot morphology	7528	YY1	OMIM:617557
HP:0001760	Abnormal foot morphology	8425	LTBP4	OMIM:613177
HP:0001760	Abnormal foot morphology	1349	COX7B	OMIM:300887
HP:0001760	Abnormal foot morphology	2623	GATA1	OMIM:190685
HP:0001760	Abnormal foot morphology	83479	DDX59	OMIM:174300
HP:0001760	Abnormal foot morphology	28960	DCPS	OMIM:616459
HP:0001760	Abnormal foot morphology	8289	ARID1A	OMIM:614607
HP:0001760	Abnormal foot morphology	10651	MTX2	OMIM:619127
HP:0001760	Abnormal foot morphology	51098	IFT52	OMIM:617102
HP:0001760	Abnormal foot morphology	6942	TCF20	OMIM:618430
HP:0001760	Abnormal foot morphology	6605	SMARCE1	OMIM:616938
HP:0001760	Abnormal foot morphology	9320	TRIP12	OMIM:617752
HP:0001760	Abnormal foot morphology	6603	SMARCD2	OMIM:617475
HP:0001760	Abnormal foot morphology	5116	PCNT	ORPHA:808
HP:0001760	Abnormal foot morphology	79902	NUP85	ORPHA:808
HP:0001760	Abnormal foot morphology	84126	ATRIP	ORPHA:808
HP:0001760	Abnormal foot morphology	55835	CENPJ	ORPHA:808
HP:0001760	Abnormal foot morphology	51053	GMNN	OMIM:616835
HP:0001760	Abnormal foot morphology	55081	IFT57	OMIM:617927
HP:0001760	Abnormal foot morphology	55012	PPP2R3C	OMIM:618419
HP:0001760	Abnormal foot morphology	7474	WNT5A	OMIM:180700
HP:0001760	Abnormal foot morphology	1855	DVL1	OMIM:180700
HP:0001760	Abnormal foot morphology	3251	HPRT1	OMIM:300322
HP:0001760	Abnormal foot morphology	3251	HPRT1	OMIM:300323
HP:0001760	Abnormal foot morphology	5281	PIGF	OMIM:619356
HP:0001760	Abnormal foot morphology	415	ARSL	ORPHA:79345
HP:0001760	Abnormal foot morphology	490	ATP2B1	OMIM:619910
HP:0001760	Abnormal foot morphology	5283	PIGH	OMIM:618010
HP:0001760	Abnormal foot morphology	6049	RNF6	ORPHA:99977
HP:0001760	Abnormal foot morphology	51741	WWOX	ORPHA:99977
HP:0001760	Abnormal foot morphology	9940	DLEC1	ORPHA:99977
HP:0001760	Abnormal foot morphology	23498	HAAO	OMIM:617660
HP:0001760	Abnormal foot morphology	55640	FLVCR2	OMIM:225790
HP:0001760	Abnormal foot morphology	8942	KYNU	OMIM:617661
HP:0001760	Abnormal foot morphology	9993	DGCR2	OMIM:192430
HP:0001760	Abnormal foot morphology	8220	ESS2	OMIM:192430
HP:0001760	Abnormal foot morphology	8214	DGCR6	OMIM:192430
HP:0001760	Abnormal foot morphology	54487	DGCR8	OMIM:192430
HP:0001760	Abnormal foot morphology	9723	SEMA3E	ORPHA:138
HP:0001760	Abnormal foot morphology	1760	DMPK	ORPHA:589821
HP:0001760	Abnormal foot morphology	774	CACNA1B	OMIM:618497
HP:0001760	Abnormal foot morphology	63894	VIPAS39	OMIM:613404
HP:0001760	Abnormal foot morphology	8398	PLA2G6	OMIM:610217
HP:0001760	Abnormal foot morphology	7476	WNT7A	OMIM:276820
HP:0001760	Abnormal foot morphology	7476	WNT7A	OMIM:228930
HP:0001760	Abnormal foot morphology	59341	TRPV4	OMIM:606835
HP:0001760	Abnormal foot morphology	2261	FGFR3	OMIM:602849
HP:0001760	Abnormal foot morphology	1302	COL11A2	OMIM:215150
HP:0001760	Abnormal foot morphology	2074	ERCC6	OMIM:214150
HP:0001760	Abnormal foot morphology	23556	PIGN	ORPHA:280633
HP:0001760	Abnormal foot morphology	3094	HINT1	ORPHA:324442
HP:0001760	Abnormal foot morphology	2879	GPX4	OMIM:250220
HP:0001760	Abnormal foot morphology	9759	HDAC4	OMIM:600430
HP:0001760	Abnormal foot morphology	9578	CDC42BPB	OMIM:619841
HP:0001760	Abnormal foot morphology	5191	PEX7	OMIM:266500
HP:0001760	Abnormal foot morphology	5264	PHYH	OMIM:266500
HP:0001760	Abnormal foot morphology	94005	PIGS	OMIM:618143
HP:0001760	Abnormal foot morphology	89970	RSPRY1	ORPHA:457395
HP:0001760	Abnormal foot morphology	89970	RSPRY1	OMIM:616723
HP:0001760	Abnormal foot morphology	54585	LZTFL1	OMIM:615994
HP:0001760	Abnormal foot morphology	55628	ZNF407	OMIM:619557
HP:0001760	Abnormal foot morphology	2146	EZH2	OMIM:277590
HP:0001760	Abnormal foot morphology	79633	FAT4	OMIM:615546
HP:0001760	Abnormal foot morphology	8642	DCHS1	OMIM:601390
HP:0001760	Abnormal foot morphology	54496	PRMT7	ORPHA:464288
HP:0001760	Abnormal foot morphology	6925	TCF4	OMIM:610954
HP:0001760	Abnormal foot morphology	3081	HGD	ORPHA:56
HP:0001760	Abnormal foot morphology	3081	HGD	OMIM:203500
HP:0001760	Abnormal foot morphology	3265	HRAS	ORPHA:3071
HP:0001760	Abnormal foot morphology	3848	KRT1	ORPHA:530838
HP:0001760	Abnormal foot morphology	10682	EBP	ORPHA:401973
HP:0001760	Abnormal foot morphology	10682	EBP	OMIM:300960
HP:0001760	Abnormal foot morphology	658	BMPR1B	OMIM:112600
HP:0001760	Abnormal foot morphology	8200	GDF5	OMIM:112600
HP:0001760	Abnormal foot morphology	650	BMP2	OMIM:112600
HP:0001760	Abnormal foot morphology	22827	PUF60	ORPHA:508498
HP:0001760	Abnormal foot morphology	11253	MAN1B1	ORPHA:397941
HP:0001760	Abnormal foot morphology	23394	ADNP	ORPHA:404448
HP:0001760	Abnormal foot morphology	5898	RALA	OMIM:619311
HP:0001760	Abnormal foot morphology	8294	H4C9	OMIM:619951
HP:0001760	Abnormal foot morphology	8506	CNTNAP1	OMIM:618186
HP:0001760	Abnormal foot morphology	4683	NBN	OMIM:251260
HP:0001760	Abnormal foot morphology	5885	RAD21	OMIM:614701
HP:0001760	Abnormal foot morphology	81857	MED25	OMIM:616449
HP:0001760	Abnormal foot morphology	81857	MED25	ORPHA:464738
HP:0001760	Abnormal foot morphology	10586	MAB21L2	OMIM:615877
HP:0001760	Abnormal foot morphology	8854	ALDH1A2	OMIM:620025
HP:0001760	Abnormal foot morphology	10274	STAG1	ORPHA:502434
HP:0001760	Abnormal foot morphology	85358	SHANK3	OMIM:606232
HP:0001760	Abnormal foot morphology	64324	NSD1	ORPHA:821
HP:0001760	Abnormal foot morphology	29072	SETD2	ORPHA:821
HP:0001760	Abnormal foot morphology	10297	APC2	ORPHA:821
HP:0001760	Abnormal foot morphology	55209	SETD5	ORPHA:404440
HP:0001760	Abnormal foot morphology	10743	RAI1	ORPHA:477817
HP:0001760	Abnormal foot morphology	55790	CSGALNACT1	OMIM:618870
HP:0001760	Abnormal foot morphology	23291	FBXW11	OMIM:618914
HP:0001760	Abnormal foot morphology	10982	MAPRE2	OMIM:616734
HP:0001760	Abnormal foot morphology	1717	DHCR7	ORPHA:818
HP:0001760	Abnormal foot morphology	1717	DHCR7	OMIM:270400
HP:0001760	Abnormal foot morphology	4297	KMT2A	OMIM:605130
HP:0001760	Abnormal foot morphology	8626	TP63	OMIM:106260
HP:0001760	Abnormal foot morphology	6660	SOX5	ORPHA:313892
HP:0001760	Abnormal foot morphology	54880	BCOR	ORPHA:2712
HP:0001760	Abnormal foot morphology	54880	BCOR	OMIM:300166
HP:0001760	Abnormal foot morphology	51057	WDPCP	OMIM:217085
HP:0001760	Abnormal foot morphology	9241	NOG	OMIM:186500
HP:0001760	Abnormal foot morphology	727857	BHLHA9	ORPHA:157801
HP:0001760	Abnormal foot morphology	7319	UBE2A	OMIM:300860
HP:0001760	Abnormal foot morphology	10087	CERT1	OMIM:616351
HP:0001760	Abnormal foot morphology	372	ARCN1	OMIM:617164
HP:0001760	Abnormal foot morphology	164	AP1G1	OMIM:619467
HP:0001760	Abnormal foot morphology	1656	DDX6	OMIM:618653
HP:0001760	Abnormal foot morphology	4212	MEIS2	OMIM:600987
HP:0001760	Abnormal foot morphology	23327	NEDD4L	OMIM:617201
HP:0001760	Abnormal foot morphology	5147	PDE6D	OMIM:615665
HP:0001760	Abnormal foot morphology	57178	ZMIZ1	OMIM:618659
HP:0001760	Abnormal foot morphology	93627	TBCK	ORPHA:488632
HP:0001760	Abnormal foot morphology	6304	SATB1	OMIM:619229
HP:0001760	Abnormal foot morphology	80185	TTI2	ORPHA:391307
HP:0001760	Abnormal foot morphology	26160	IFT172	OMIM:619471
HP:0001760	Abnormal foot morphology	10664	CTCF	ORPHA:363611
HP:0001760	Abnormal foot morphology	3590	IL11RA	OMIM:614188
HP:0001760	Abnormal foot morphology	55165	CEP55	OMIM:236500
HP:0001760	Abnormal foot morphology	84992	PIGY	OMIM:616809
HP:0001760	Abnormal foot morphology	10907	TXNL4A	OMIM:608572
HP:0001760	Abnormal foot morphology	284252	KCTD1	OMIM:181270
HP:0001760	Abnormal foot morphology	6558	SLC12A2	OMIM:619080
HP:0001760	Abnormal foot morphology	7204	TRIO	OMIM:617061
HP:0001760	Abnormal foot morphology	7204	TRIO	ORPHA:476126
HP:0001760	Abnormal foot morphology	64327	LMBR1	OMIM:186200
HP:0001760	Abnormal foot morphology	2222	FDFT1	OMIM:618156
HP:0001760	Abnormal foot morphology	4089	SMAD4	OMIM:139210
HP:0001760	Abnormal foot morphology	6857	SYT1	ORPHA:522077
HP:0001760	Abnormal foot morphology	8318	CDC45	OMIM:617063
HP:0001760	Abnormal foot morphology	6472	SHMT2	OMIM:619121
HP:0001760	Abnormal foot morphology	112752	IFT43	OMIM:617866
HP:0001760	Abnormal foot morphology	112752	IFT43	OMIM:614099
HP:0001760	Abnormal foot morphology	57570	TRMT5	OMIM:616539
HP:0001760	Abnormal foot morphology	2260	FGFR1	OMIM:123150
HP:0001760	Abnormal foot morphology	2263	FGFR2	OMIM:123150
HP:0001760	Abnormal foot morphology	2263	FGFR2	ORPHA:1540
HP:0001760	Abnormal foot morphology	23529	CLCF1	OMIM:610313
HP:0001760	Abnormal foot morphology	11128	POLR3A	ORPHA:3455
HP:0001760	Abnormal foot morphology	745	MYRF	OMIM:618280
HP:0001760	Abnormal foot morphology	23387	SIK3	OMIM:618162
HP:0001760	Abnormal foot morphology	10020	GNE	OMIM:269921
HP:0001760	Abnormal foot morphology	10020	GNE	ORPHA:3166
HP:0001760	Abnormal foot morphology	1663	DDX11	OMIM:613398
HP:0001760	Abnormal foot morphology	25836	NIPBL	OMIM:122470
HP:0001760	Abnormal foot morphology	5718	PSMD12	OMIM:617516
HP:0001760	Abnormal foot morphology	9757	KMT2B	OMIM:619934
HP:0001760	Abnormal foot morphology	4848	CNOT2	OMIM:618608
HP:0001760	Abnormal foot morphology	55023	PHIP	ORPHA:589905
HP:0001760	Abnormal foot morphology	341208	HEPHL1	OMIM:261990
HP:0001760	Abnormal foot morphology	55212	BBS7	OMIM:615984
HP:0001760	Abnormal foot morphology	4208	MEF2C	OMIM:613443
HP:0001760	Abnormal foot morphology	3516	RBPJ	OMIM:614814
HP:0001760	Abnormal foot morphology	3720	JARID2	OMIM:620098
HP:0001760	Abnormal foot morphology	3762	KCNJ5	ORPHA:37553
HP:0001760	Abnormal foot morphology	3759	KCNJ2	ORPHA:37553
HP:0001760	Abnormal foot morphology	9990	SLC12A6	OMIM:218000
HP:0001760	Abnormal foot morphology	3239	HOXD13	OMIM:186000
HP:0001760	Abnormal foot morphology	3239	HOXD13	OMIM:186300
HP:0001760	Abnormal foot morphology	6299	SALL1	OMIM:107480
HP:0001760	Abnormal foot morphology	4613	MYCN	ORPHA:391641
HP:0001760	Abnormal foot morphology	4613	MYCN	OMIM:164280
HP:0001760	Abnormal foot morphology	6913	TBX15	OMIM:260660
HP:0001760	Abnormal foot morphology	54888	NSUN2	OMIM:611091
HP:0001760	Abnormal foot morphology	50814	NSDHL	OMIM:308050
HP:0001760	Abnormal foot morphology	92002	CCNQ	OMIM:300707
HP:0001760	Abnormal foot morphology	81607	NECTIN4	OMIM:613573
HP:0001760	Abnormal foot morphology	79583	TMEM231	OMIM:614970
HP:0001760	Abnormal foot morphology	9894	TELO2	ORPHA:488642
HP:0001760	Abnormal foot morphology	5932	RBBP8	OMIM:251255
HP:0001760	Abnormal foot morphology	10397	NDRG1	OMIM:601455
HP:0001760	Abnormal foot morphology	6872	TAF1	OMIM:300966
HP:0001760	Abnormal foot morphology	4625	MYH7	ORPHA:59135
HP:0001760	Abnormal foot morphology	56997	COQ8A	ORPHA:139485
HP:0001760	Abnormal foot morphology	6662	SOX9	OMIM:114290
HP:0001760	Abnormal foot morphology	1593	CYP27A1	ORPHA:909
HP:0001760	Abnormal foot morphology	23299	BICD2	ORPHA:363454
HP:0001760	Abnormal foot morphology	10342	TFG	ORPHA:431329
HP:0001760	Abnormal foot morphology	79147	FKRP	ORPHA:34515
HP:0001760	Abnormal foot morphology	4000	LMNA	ORPHA:79474
HP:0001760	Abnormal foot morphology	5582	PRKCG	ORPHA:98763
HP:0001760	Abnormal foot morphology	8139	GAN	ORPHA:643
HP:0001760	Abnormal foot morphology	23204	ARL6IP1	ORPHA:401780
HP:0001760	Abnormal foot morphology	5456	POU3F4	ORPHA:1435
HP:0001760	Abnormal foot morphology	10216	PRG4	OMIM:208250
HP:0001760	Abnormal foot morphology	162514	TRPV3	OMIM:616400
HP:0001760	Abnormal foot morphology	1832	DSP	ORPHA:65282
HP:0001760	Abnormal foot morphology	2707	GJB3	ORPHA:317
HP:0001760	Abnormal foot morphology	2707	GJB3	OMIM:133200
HP:0001760	Abnormal foot morphology	2531	KDSR	ORPHA:317
HP:0001760	Abnormal foot morphology	127534	GJB4	ORPHA:317
HP:0001760	Abnormal foot morphology	1327	COX4I1	OMIM:619060
HP:0001760	Abnormal foot morphology	79152	FA2H	ORPHA:171629
HP:0001760	Abnormal foot morphology	10352	WARS2	ORPHA:572798
HP:0001760	Abnormal foot morphology	1737	DLAT	ORPHA:79244
HP:0001760	Abnormal foot morphology	4204	MECP2	OMIM:300260
HP:0001760	Abnormal foot morphology	6134	RPL10	OMIM:300998
HP:0001760	Abnormal foot morphology	8295	TRRAP	OMIM:618454
HP:0001760	Abnormal foot morphology	91179	SCARF2	OMIM:600920
HP:0001760	Abnormal foot morphology	23288	IQCE	OMIM:617642
HP:0001760	Abnormal foot morphology	5587	PRKD1	OMIM:617364
HP:0001760	Abnormal foot morphology	55784	MCTP2	ORPHA:1596
HP:0001760	Abnormal foot morphology	775	CACNA1C	OMIM:620029
HP:0001760	Abnormal foot morphology	8823	FGF16	OMIM:309630
HP:0001760	Abnormal foot morphology	64093	SMOC1	OMIM:206920
HP:0001760	Abnormal foot morphology	10522	DEAF1	OMIM:615828
HP:0001760	Abnormal foot morphology	10079	ATP9A	OMIM:620242
HP:0001760	Abnormal foot morphology	2556	GABRA3	OMIM:301091
HP:0001760	Abnormal foot morphology	51776	MAP3K20	ORPHA:488232
HP:0001760	Abnormal foot morphology	23261	CAMTA1	OMIM:614756
HP:0001760	Abnormal foot morphology	374969	SVBP	OMIM:618569
HP:0001760	Abnormal foot morphology	1859	DYRK1A	ORPHA:268261
HP:0001760	Abnormal foot morphology	2697	GJA1	OMIM:257850
HP:0001760	Abnormal foot morphology	64127	NOD2	OMIM:186580
HP:0001760	Abnormal foot morphology	23102	TBC1D2B	OMIM:619323
HP:0001760	Abnormal foot morphology	5696	PSMB8	OMIM:256040
HP:0001760	Abnormal foot morphology	2067	ERCC1	OMIM:610758
HP:0001760	Abnormal foot morphology	4313	MMP2	ORPHA:371428
HP:0001760	Abnormal foot morphology	4313	MMP2	OMIM:259600
HP:0001760	Abnormal foot morphology	4323	MMP14	ORPHA:371428
HP:0001760	Abnormal foot morphology	4323	MMP14	OMIM:277950
HP:0001760	Abnormal foot morphology	9935	MAFB	OMIM:166300
HP:0001760	Abnormal foot morphology	11160	ERLIN2	ORPHA:280384
HP:0001760	Abnormal foot morphology	11160	ERLIN2	ORPHA:209951
HP:0001760	Abnormal foot morphology	25914	RTTN	ORPHA:468631
HP:0001760	Abnormal foot morphology	1605	DAG1	OMIM:613818
HP:0001760	Abnormal foot morphology	1605	DAG1	ORPHA:280333
HP:0001760	Abnormal foot morphology	6442	SGCA	OMIM:608099
HP:0001760	Abnormal foot morphology	6840	SVIL	OMIM:619040
HP:0001760	Abnormal foot morphology	1303	COL12A1	ORPHA:536516
HP:0001760	Abnormal foot morphology	1303	COL12A1	ORPHA:610
HP:0001760	Abnormal foot morphology	825	CAPN3	ORPHA:267
HP:0001760	Abnormal foot morphology	22978	NT5C2	ORPHA:320396
HP:0001760	Abnormal foot morphology	55958	KLHL9	ORPHA:399081
HP:0001760	Abnormal foot morphology	6261	RYR1	OMIM:117000
HP:0001760	Abnormal foot morphology	83636	C19orf12	OMIM:615043
HP:0001760	Abnormal foot morphology	84876	ORAI1	OMIM:615883
HP:0001760	Abnormal foot morphology	163175	LGI4	OMIM:617468
HP:0001760	Abnormal foot morphology	6509	SLC1A4	OMIM:616657
HP:0001760	Abnormal foot morphology	60681	FKBP10	OMIM:259450
HP:0001760	Abnormal foot morphology	4773	NFATC2	OMIM:620232
HP:0001760	Abnormal foot morphology	1291	COL6A1	ORPHA:610
HP:0001760	Abnormal foot morphology	1291	COL6A1	OMIM:158810
HP:0001760	Abnormal foot morphology	1292	COL6A2	ORPHA:610
HP:0001760	Abnormal foot morphology	1292	COL6A2	OMIM:158810
HP:0001760	Abnormal foot morphology	1293	COL6A3	ORPHA:610
HP:0001760	Abnormal foot morphology	1293	COL6A3	OMIM:158810
HP:0001760	Abnormal foot morphology	87178	PNPT1	ORPHA:319514
HP:0001760	Abnormal foot morphology	26092	TOR1AIP1	OMIM:617072
HP:0001760	Abnormal foot morphology	2316	FLNA	OMIM:305620
HP:0001760	Abnormal foot morphology	8813	DPM1	OMIM:608799
HP:0001760	Abnormal foot morphology	210	ALAD	ORPHA:100924
HP:0001760	Abnormal foot morphology	513	ATP5F1D	OMIM:618120
HP:0001760	Abnormal foot morphology	7317	UBA1	ORPHA:1145
HP:0001760	Abnormal foot morphology	55681	SCYL2	ORPHA:1143
HP:0001760	Abnormal foot morphology	84570	COL25A1	ORPHA:1143
HP:0001760	Abnormal foot morphology	57222	ERGIC1	ORPHA:1143
HP:0001760	Abnormal foot morphology	80208	SPG11	OMIM:616668
HP:0001760	Abnormal foot morphology	57731	SPTBN4	OMIM:617519
HP:0001760	Abnormal foot morphology	157570	ESCO2	OMIM:268300
HP:0001760	Abnormal foot morphology	29968	PSAT1	ORPHA:284417
HP:0001760	Abnormal foot morphology	57190	SELENON	ORPHA:2020
HP:0001760	Abnormal foot morphology	58	ACTA1	ORPHA:2020
HP:0001760	Abnormal foot morphology	4633	MYL2	ORPHA:2020
HP:0001760	Abnormal foot morphology	3679	ITGA7	ORPHA:2020
HP:0001760	Abnormal foot morphology	7169	TPM2	ORPHA:2020
HP:0001760	Abnormal foot morphology	9200	HACD1	ORPHA:2020
HP:0001760	Abnormal foot morphology	7170	TPM3	ORPHA:2020
HP:0001760	Abnormal foot morphology	5297	PI4KA	OMIM:619621
HP:0001760	Abnormal foot morphology	497661	C18orf32	OMIM:619985
HP:0001760	Abnormal foot morphology	127833	SYT2	OMIM:619461
HP:0001760	Abnormal foot morphology	4921	DDR2	OMIM:618175
HP:0001760	Abnormal foot morphology	4703	NEB	ORPHA:399103
HP:0001760	Abnormal foot morphology	7407	VARS1	OMIM:617802
HP:0001760	Abnormal foot morphology	203859	ANO5	ORPHA:206549
HP:0001760	Abnormal foot morphology	207	AKT1	OMIM:176920
HP:0001760	Abnormal foot morphology	1080	CFTR	ORPHA:498359
HP:0001760	Abnormal foot morphology	1508	CTSB	OMIM:148370
HP:0001760	Abnormal foot morphology	8710	SERPINB7	OMIM:615598
HP:0001760	Abnormal foot morphology	9373	PLAA	OMIM:617527
HP:0001760	Abnormal foot morphology	51360	MBTPS2	ORPHA:659
HP:0001760	Abnormal foot morphology	64065	PERP	ORPHA:659
HP:0001760	Abnormal foot morphology	284654	RSPO1	OMIM:610644
HP:0001760	Abnormal foot morphology	1041	CDSN	OMIM:270300
HP:0001760	Abnormal foot morphology	5317	PKP1	OMIM:604536
HP:0001760	Abnormal foot morphology	3868	KRT16	ORPHA:2309
HP:0001760	Abnormal foot morphology	3872	KRT17	ORPHA:2309
HP:0001760	Abnormal foot morphology	3854	KRT6B	ORPHA:2309
HP:0001760	Abnormal foot morphology	1828	DSG1	OMIM:148700
HP:0001760	Abnormal foot morphology	362	AQP5	OMIM:600231
HP:0001760	Abnormal foot morphology	362	AQP5	ORPHA:2337
HP:0001760	Abnormal foot morphology	3728	JUP	OMIM:601214
HP:0001760	Abnormal foot morphology	145264	SERPINA12	ORPHA:86923
HP:0001760	Abnormal foot morphology	54800	KLHL24	OMIM:617294
HP:0001760	Abnormal foot morphology	9342	SNAP29	ORPHA:66631
HP:0001760	Abnormal foot morphology	4014	LORICRIN	OMIM:604117
HP:0001760	Abnormal foot morphology	4014	LORICRIN	ORPHA:79395
HP:0001760	Abnormal foot morphology	51371	POMP	OMIM:601952
HP:0001760	Abnormal foot morphology	11285	B4GALT7	ORPHA:75496
HP:0001760	Abnormal foot morphology	11285	B4GALT7	OMIM:130070
HP:0001760	Abnormal foot morphology	715	C1R	OMIM:130080
HP:0001760	Abnormal foot morphology	22808	MRAS	OMIM:618499
HP:0001760	Abnormal foot morphology	5351	PLOD1	OMIM:225400
HP:0001760	Abnormal foot morphology	8216	LZTR1	OMIM:616564
HP:0001760	Abnormal foot morphology	8216	LZTR1	OMIM:605275
HP:0001760	Abnormal foot morphology	84627	ZNF469	OMIM:229200
HP:0001760	Abnormal foot morphology	6016	RIT1	OMIM:615355
HP:0001760	Abnormal foot morphology	23545	ATP6V0A2	OMIM:278250
HP:0001760	Abnormal foot morphology	5167	ENPP1	OMIM:615522
HP:0001760	Abnormal foot morphology	488	ATP2A2	OMIM:101900
HP:0001760	Abnormal foot morphology	488	ATP2A2	ORPHA:79151
HP:0001760	Abnormal foot morphology	831	CAST	OMIM:616295
HP:0001760	Abnormal foot morphology	79719	AAGAB	OMIM:148600
HP:0001760	Abnormal foot morphology	26276	VPS33B	OMIM:620009
HP:0001760	Abnormal foot morphology	56916	SMARCAD1	OMIM:181600
HP:0001760	Abnormal foot morphology	1075	CTSC	OMIM:245010
HP:0001760	Abnormal foot morphology	57152	SLURP1	OMIM:248300
HP:0001760	Abnormal foot morphology	5339	PLEC	OMIM:616487
HP:0001760	Abnormal foot morphology	3914	LAMB3	OMIM:226650
HP:0001760	Abnormal foot morphology	9401	RECQL4	ORPHA:221016
HP:0001760	Abnormal foot morphology	286887	KRT6C	OMIM:615735
HP:0001760	Abnormal foot morphology	3852	KRT5	ORPHA:79397
HP:0001760	Abnormal foot morphology	3852	KRT5	ORPHA:79399
HP:0001760	Abnormal foot morphology	3852	KRT5	ORPHA:79400
HP:0001760	Abnormal foot morphology	3861	KRT14	ORPHA:79397
HP:0001760	Abnormal foot morphology	3861	KRT14	ORPHA:79399
HP:0001760	Abnormal foot morphology	3861	KRT14	ORPHA:79400
HP:0001760	Abnormal foot morphology	3853	KRT6A	OMIM:615726
HP:0001760	Abnormal foot morphology	29926	GMPPA	ORPHA:869
HP:0001760	Abnormal foot morphology	60684	TRAPPC11	ORPHA:869
HP:0001760	Abnormal foot morphology	8086	AAAS	ORPHA:869
HP:0001760	Abnormal foot morphology	80326	WNT10A	OMIM:257980
HP:0001760	Abnormal foot morphology	3857	KRT9	OMIM:144200
HP:0001760	Abnormal foot morphology	79650	USB1	OMIM:604173
HP:0001760	Abnormal foot morphology	64682	ANAPC1	ORPHA:221008
HP:0001760	Abnormal foot morphology	56006	SMG9	OMIM:619995
HP:0001760	Abnormal foot morphology	9325	TRIP4	OMIM:617066
HP:0001760	Abnormal foot morphology	9325	TRIP4	ORPHA:486815
HP:0001760	Abnormal foot morphology	91869	RFT1	OMIM:612015
HP:0001760	Abnormal foot morphology	55107	ANO1	OMIM:620045
HP:0001760	Abnormal foot morphology	2783	GNB2	OMIM:619503
HP:0001760	Abnormal foot morphology	64135	IFIH1	OMIM:182250
HP:0001760	Abnormal foot morphology	5745	PTH1R	OMIM:600002
HP:0001760	Abnormal foot morphology	3209	HOXA13	OMIM:140000
HP:0001760	Abnormal foot morphology	4148	MATN3	OMIM:607078
HP:0001760	Abnormal foot morphology	23169	SLC35D1	OMIM:269250
HP:0001760	Abnormal foot morphology	23169	SLC35D1	ORPHA:3144
HP:0001760	Abnormal foot morphology	3636	INPPL1	ORPHA:3144
HP:0001760	Abnormal foot morphology	1836	SLC26A2	ORPHA:56304
HP:0001760	Abnormal foot morphology	23230	VPS13A	ORPHA:2388
HP:0001760	Abnormal foot morphology	10667	FARS2	ORPHA:466722
HP:0001760	Abnormal foot morphology	526	ATP6V1B2	ORPHA:79500
HP:0001760	Abnormal foot morphology	57465	TBC1D24	ORPHA:79500
HP:0001760	Abnormal foot morphology	65055	REEP1	OMIM:620011
HP:0001760	Abnormal foot morphology	673	BRAF	OMIM:115150
HP:0001760	Abnormal foot morphology	4041	LRP5	OMIM:144750
HP:0001760	Abnormal foot morphology	84342	COG8	OMIM:611182
HP:0001760	Abnormal foot morphology	5251	PHEX	OMIM:307800
HP:0001760	Abnormal foot morphology	5251	PHEX	ORPHA:89936
HP:0001760	Abnormal foot morphology	4010	LMX1B	ORPHA:2614
HP:0001760	Abnormal foot morphology	5376	PMP22	ORPHA:90658
HP:0001760	Abnormal foot morphology	8242	KDM5C	OMIM:300534
HP:0001760	Abnormal foot morphology	2317	FLNB	OMIM:150250
HP:0001760	Abnormal foot morphology	2200	FBN1	OMIM:154700
HP:0001760	Abnormal foot morphology	9451	EIF2AK3	OMIM:226980
HP:0001760	Abnormal foot morphology	10804	GJB6	ORPHA:477
HP:0001760	Abnormal foot morphology	2706	GJB2	ORPHA:477
HP:0001760	Abnormal foot morphology	3032	HADHB	ORPHA:746
HP:0001760	Abnormal foot morphology	3030	HADHA	ORPHA:746
HP:0001760	Abnormal foot morphology	3236	HOXD10	OMIM:192950
HP:0001760	Abnormal foot morphology	165	AEBP1	ORPHA:536532
HP:0001760	Abnormal foot morphology	10013	HDAC6	ORPHA:163966
HP:0001760	Abnormal foot morphology	51305	KCNK9	ORPHA:166108
HP:0001760	Abnormal foot morphology	4604	MYBPC1	OMIM:614335
HP:0001760	Abnormal foot morphology	4312	MMP1	ORPHA:79408
HP:0001760	Abnormal foot morphology	1294	COL7A1	ORPHA:79408
HP:0001760	Abnormal foot morphology	2972	BRF1	ORPHA:444072
HP:0001760	Abnormal foot morphology	23259	DDHD2	ORPHA:320380
HP:0001760	Abnormal foot morphology	54828	BCAS3	OMIM:619641
HP:0001760	Abnormal foot morphology	51651	PTRH2	ORPHA:456312
HP:0001760	Abnormal foot morphology	1235	CCR6	ORPHA:220402
HP:0001760	Abnormal foot morphology	79932	KIAA0319L	ORPHA:220402
HP:0001760	Abnormal foot morphology	1490	CCN2	ORPHA:220402
HP:0001760	Abnormal foot morphology	3663	IRF5	ORPHA:220402
HP:0001760	Abnormal foot morphology	857	CAV1	ORPHA:220402
HP:0001760	Abnormal foot morphology	3123	HLA-DRB1	ORPHA:220402
HP:0001760	Abnormal foot morphology	1161	ERCC8	ORPHA:90321
HP:0001760	Abnormal foot morphology	5447	POR	OMIM:201750
HP:0001760	Abnormal foot morphology	5447	POR	ORPHA:95699
HP:0001760	Abnormal foot morphology	22856	CHSY1	ORPHA:363417
HP:0001760	Abnormal foot morphology	22856	CHSY1	OMIM:605282
HP:0001760	Abnormal foot morphology	392255	GDF6	OMIM:617898
HP:0001760	Abnormal foot morphology	4621	MYH3	OMIM:618469
HP:0001760	Abnormal foot morphology	4621	MYH3	OMIM:178110
HP:0001760	Abnormal foot morphology	4621	MYH3	ORPHA:1147
HP:0001760	Abnormal foot morphology	7140	TNNT3	ORPHA:1147
HP:0001760	Abnormal foot morphology	259232	NALCN	ORPHA:1147
HP:0001760	Abnormal foot morphology	7136	TNNI2	ORPHA:1147
HP:0001760	Abnormal foot morphology	9496	TBX4	OMIM:147891
HP:0001760	Abnormal foot morphology	8195	MKKS	ORPHA:2473
HP:0001760	Abnormal foot morphology	8481	OFD1	ORPHA:2750
HP:0001760	Abnormal foot morphology	538	ATP7A	ORPHA:565
HP:0001760	Abnormal foot morphology	6885	MAP3K7	OMIM:157800
HP:0001760	Abnormal foot morphology	2192	FBLN1	OMIM:608180
HP:0001760	Abnormal foot morphology	1001	CDH3	OMIM:225280
HP:0001760	Abnormal foot morphology	7994	KAT6A	OMIM:616268
HP:0001760	Abnormal foot morphology	5518	PPP2R1A	OMIM:616362
HP:0001760	Abnormal foot morphology	5518	PPP2R1A	ORPHA:457284
HP:0001760	Abnormal foot morphology	10262	SF3B4	OMIM:154400
HP:0001760	Abnormal foot morphology	6477	SIAH1	OMIM:619314
HP:0001760	Abnormal foot morphology	10059	DNM1L	OMIM:614388
HP:0001760	Abnormal foot morphology	79005	SCNM1	OMIM:620107
HP:0001760	Abnormal foot morphology	4329	ALDH6A1	OMIM:614105
HP:0001760	Abnormal foot morphology	84720	PIGO	OMIM:614749
HP:0001760	Abnormal foot morphology	80036	TRPM3	OMIM:620224
HP:0001760	Abnormal foot morphology	8085	KMT2D	OMIM:620186
HP:0001760	Abnormal foot morphology	9839	ZEB2	ORPHA:261537
HP:0001760	Abnormal foot morphology	9839	ZEB2	ORPHA:261552
HP:0001760	Abnormal foot morphology	10236	HNRNPR	OMIM:620073
HP:0001760	Abnormal foot morphology	1457	CSNK2A1	OMIM:617062
HP:0001760	Abnormal foot morphology	28952	CCDC22	OMIM:300963
HP:0001760	Abnormal foot morphology	8239	USP9X	OMIM:300919
HP:0001760	Abnormal foot morphology	4882	NPR2	OMIM:615923
HP:0001760	Abnormal foot morphology	9968	MED12	OMIM:305450
HP:0001760	Abnormal foot morphology	137814	NKX2-6	OMIM:217095
HP:0001760	Abnormal foot morphology	1482	NKX2-5	OMIM:217095
HP:0001760	Abnormal foot morphology	6899	TBX1	OMIM:217095
HP:0001760	Abnormal foot morphology	2627	GATA6	OMIM:217095
HP:0001760	Abnormal foot morphology	1749	DLX5	OMIM:183600
HP:0001760	Abnormal foot morphology	50515	CHST11	OMIM:618167
HP:0001760	Abnormal foot morphology	8260	NAA10	OMIM:300855
HP:0001760	Abnormal foot morphology	8260	NAA10	ORPHA:276432
HP:0001760	Abnormal foot morphology	2186	BPTF	OMIM:617755
HP:0001760	Abnormal foot morphology	387	RHOA	OMIM:618727
HP:0001760	Abnormal foot morphology	51594	NBAS	OMIM:614800
HP:0001760	Abnormal foot morphology	29920	PYCR2	ORPHA:481152
HP:0001760	Abnormal foot morphology	176	ACAN	OMIM:165800
HP:0001760	Abnormal foot morphology	3756	KCNH1	OMIM:611816
HP:0001760	Abnormal foot morphology	444	ASPH	OMIM:601552
HP:0001760	Abnormal foot morphology	26040	SETBP1	OMIM:616078
HP:0001760	Abnormal foot morphology	2702	GJA5	OMIM:612474
HP:0001760	Abnormal foot morphology	2703	GJA8	OMIM:612474
HP:0001760	Abnormal foot morphology	5144	PDE4D	ORPHA:439822
HP:0001760	Abnormal foot morphology	6878	TAF6	OMIM:617126
HP:0001760	Abnormal foot morphology	3930	LBR	OMIM:618019
HP:0001760	Abnormal foot morphology	1280	COL2A1	ORPHA:1856
HP:0001760	Abnormal foot morphology	4038	LRP4	OMIM:212780
HP:0001760	Abnormal foot morphology	90	ACVR1	ORPHA:337
HP:0001760	Abnormal foot morphology	1387	CREBBP	OMIM:180849
HP:0001760	Abnormal foot morphology	2033	EP300	OMIM:180849
HP:0001760	Abnormal foot morphology	2737	GLI3	OMIM:175700
HP:0001760	Abnormal foot morphology	2737	GLI3	ORPHA:380
HP:0001760	Abnormal foot morphology	1947	EFNB1	ORPHA:1520
HP:0001760	Abnormal foot morphology	64359	NXN	ORPHA:1507
HP:0001760	Abnormal foot morphology	4920	ROR2	ORPHA:1507
HP:0001760	Abnormal foot morphology	2626	GATA4	ORPHA:251071
HP:0001760	Abnormal foot morphology	285362	SUMF1	ORPHA:585
HP:0001760	Abnormal foot morphology	23314	SATB2	ORPHA:251019
HP:0001760	Abnormal foot morphology	57167	SALL4	ORPHA:959
HP:0001760	Abnormal foot morphology	51339	DACT1	ORPHA:857
HP:0001760	Abnormal foot morphology	3764	KCNJ8	ORPHA:1517
HP:0001760	Abnormal foot morphology	2239	GPC4	ORPHA:2662
HP:0001760	Abnormal foot morphology	2313	FLI1	ORPHA:2308
HP:0001760	Abnormal foot morphology	60	ACTB	OMIM:243310
HP:0001760	Abnormal foot morphology	9851	KIAA0753	OMIM:617127
HP:0001760	Abnormal foot morphology	374654	KIF7	OMIM:200990
HP:0001760	Abnormal foot morphology	219844	HYLS1	OMIM:236680
HP:0001760	Abnormal foot morphology	26005	C2CD3	ORPHA:434179
HP:0001760	Abnormal foot morphology	9896	FIG4	ORPHA:3472
HP:0001760	Abnormal foot morphology	55697	VAC14	ORPHA:3472
HP:0001760	Abnormal foot morphology	79989	IFT56	OMIM:619534
HP:0001760	Abnormal foot morphology	4750	NEK1	ORPHA:2751
HP:0001760	Abnormal foot morphology	10060	ABCC9	OMIM:239850
HP:0001760	Abnormal foot morphology	5744	PTHLH	ORPHA:93387
HP:0001760	Abnormal foot morphology	10716	TBR1	ORPHA:1617
HP:0001760	Abnormal foot morphology	7291	TWIST1	OMIM:180750
HP:0001760	Abnormal foot morphology	51715	RAB23	OMIM:201000
HP:0001760	Abnormal foot morphology	124583	CANT1	OMIM:251450
HP:0001760	Abnormal foot morphology	57020	VPS35L	OMIM:619135
HP:0001760	Abnormal foot morphology	4256	MGP	OMIM:245150
HP:0001760	Abnormal foot morphology	657	BMPR1A	ORPHA:79076
HP:0001760	Abnormal foot morphology	3736	KCNA1	ORPHA:1934
HP:0001760	Abnormal foot morphology	9091	PIGQ	ORPHA:1934
HP:0001760	Abnormal foot morphology	2775	GNAO1	ORPHA:1934
HP:0001760	Abnormal foot morphology	81603	TRIM8	ORPHA:1934
HP:0001760	Abnormal foot morphology	2902	GRIN1	ORPHA:1934
HP:0001760	Abnormal foot morphology	79751	SLC25A22	ORPHA:1934
HP:0001760	Abnormal foot morphology	150094	SIK1	ORPHA:1934
HP:0001760	Abnormal foot morphology	8573	CASK	ORPHA:1934
HP:0001760	Abnormal foot morphology	2917	GRM7	ORPHA:1934
HP:0001760	Abnormal foot morphology	51227	PIGP	ORPHA:1934
HP:0001760	Abnormal foot morphology	4761	NEUROD2	ORPHA:1934
HP:0001760	Abnormal foot morphology	9653	HS2ST1	OMIM:619194
HP:0001760	Abnormal foot morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001760	Abnormal foot morphology	158326	FREM1	ORPHA:217266
HP:0001760	Abnormal foot morphology	51763	INPP5K	ORPHA:559
HP:0001760	Abnormal foot morphology	84892	POMGNT2	ORPHA:899
HP:0001760	Abnormal foot morphology	148789	B3GALNT2	ORPHA:899
HP:0001760	Abnormal foot morphology	29954	POMT2	ORPHA:899
HP:0001760	Abnormal foot morphology	1282	COL4A1	ORPHA:899
HP:0001760	Abnormal foot morphology	10329	RXYLT1	ORPHA:899
HP:0001760	Abnormal foot morphology	11041	B4GAT1	ORPHA:899
HP:0001760	Abnormal foot morphology	84197	POMK	ORPHA:899
HP:0001760	Abnormal foot morphology	55624	POMGNT1	ORPHA:899
HP:0001760	Abnormal foot morphology	57459	GATAD2B	OMIM:615074
HP:0001760	Abnormal foot morphology	57459	GATAD2B	ORPHA:363686
HP:0001760	Abnormal foot morphology	10265	IRX5	OMIM:611174
HP:0001760	Abnormal foot morphology	51520	LARS1	OMIM:615438
HP:0001760	Abnormal foot morphology	60676	PAPPA2	OMIM:619489
HP:0001760	Abnormal foot morphology	5727	PTCH1	ORPHA:77301
HP:0001760	Abnormal foot morphology	5727	PTCH1	ORPHA:377
HP:0001760	Abnormal foot morphology	5727	PTCH1	OMIM:109400
HP:0001760	Abnormal foot morphology	8643	PTCH2	ORPHA:377
HP:0001760	Abnormal foot morphology	51684	SUFU	ORPHA:377
HP:0001760	Abnormal foot morphology	5818	NECTIN1	OMIM:225060
HP:0001760	Abnormal foot morphology	4626	MYH8	OMIM:158300
HP:0001760	Abnormal foot morphology	2254	FGF9	OMIM:612961
HP:0001760	Abnormal foot morphology	64116	SLC39A8	ORPHA:468699
HP:0001760	Abnormal foot morphology	9321	TRIP11	OMIM:200600
HP:0001760	Abnormal foot morphology	5307	PITX1	OMIM:119800
HP:0001760	Abnormal foot morphology	8243	SMC1A	OMIM:301044
HP:0001760	Abnormal foot morphology	5290	PIK3CA	ORPHA:276280
HP:0001760	Abnormal foot morphology	150468	CKAP2L	OMIM:272440
HP:0001760	Abnormal foot morphology	4851	NOTCH1	ORPHA:974
HP:0001760	Abnormal foot morphology	57572	DOCK6	ORPHA:974
HP:0001760	Abnormal foot morphology	4853	NOTCH2	ORPHA:955
HP:0001760	Abnormal foot morphology	93587	TRMT10A	ORPHA:391408
HP:0001760	Abnormal foot morphology	84919	PPP1R15B	ORPHA:391408
HP:0001760	Abnormal foot morphology	4534	MTM1	OMIM:310400
HP:0001760	Abnormal foot morphology	4953	ODC1	ORPHA:544488
HP:0001760	Abnormal foot morphology	6926	TBX3	OMIM:181450
HP:0001760	Abnormal foot morphology	118924	FRA10AC1	OMIM:620113
HP:0001760	Abnormal foot morphology	54808	DYM	OMIM:223800
HP:0001760	Abnormal foot morphology	83987	CCDC8	OMIM:614205
HP:0001760	Abnormal foot morphology	84340	GFM2	ORPHA:565624
HP:0001760	Abnormal foot morphology	23363	OBSL1	OMIM:612921
HP:0001760	Abnormal foot morphology	83452	RAB33B	OMIM:615222
HP:0001760	Abnormal foot morphology	9365	KL	OMIM:617994
HP:0001760	Abnormal foot morphology	23592	LEMD3	ORPHA:166119
HP:0001760	Abnormal foot morphology	79718	TBL1XR1	OMIM:602342
HP:0001760	Abnormal foot morphology	55764	IFT122	OMIM:218330
HP:0001760	Abnormal foot morphology	773	CACNA1A	ORPHA:2131
HP:0001760	Abnormal foot morphology	6507	SLC1A3	ORPHA:2131
HP:0001760	Abnormal foot morphology	477	ATP1A2	ORPHA:2131
HP:0001760	Abnormal foot morphology	478	ATP1A3	ORPHA:2131
HP:0001760	Abnormal foot morphology	10625	IVNS1ABP	OMIM:618969
HP:0001760	Abnormal foot morphology	920	CD4	OMIM:619238
HP:0001760	Abnormal foot morphology	2019	EN1	OMIM:619218
HP:0001760	Abnormal foot morphology	25923	ATL3	OMIM:615632
HP:0001760	Abnormal foot morphology	10526	IPO8	OMIM:619472
HP:0001760	Abnormal foot morphology	5528	PPP2R5D	ORPHA:457279
HP:0001760	Abnormal foot morphology	6597	SMARCA4	OMIM:614609
HP:0001760	Abnormal foot morphology	3782	KCNN3	OMIM:618658
HP:0001760	Abnormal foot morphology	285203	EOGT	OMIM:615297
HP:0001760	Abnormal foot morphology	57492	ARID1B	OMIM:135900
HP:0001760	Abnormal foot morphology	3187	HNRNPH1	OMIM:620083
HP:0001760	Abnormal foot morphology	6595	SMARCA2	ORPHA:3051
HP:0001760	Abnormal foot morphology	3248	HPGD	ORPHA:217059
HP:0001760	Abnormal foot morphology	3248	HPGD	ORPHA:2796
HP:0001760	Abnormal foot morphology	3248	HPGD	ORPHA:1525
HP:0001760	Abnormal foot morphology	79651	RHBDF2	ORPHA:2198
HP:0001760	Abnormal foot morphology	9487	PIGL	ORPHA:3474
HP:0001760	Abnormal foot morphology	672	BRCA1	ORPHA:84
HP:0001760	Abnormal foot morphology	10459	MAD2L2	ORPHA:84
HP:0001760	Abnormal foot morphology	7516	XRCC2	ORPHA:84
HP:0001760	Abnormal foot morphology	29089	UBE2T	ORPHA:84
HP:0001760	Abnormal foot morphology	675	BRCA2	ORPHA:84
HP:0001760	Abnormal foot morphology	55120	FANCL	ORPHA:84
HP:0001760	Abnormal foot morphology	2177	FANCD2	ORPHA:84
HP:0001760	Abnormal foot morphology	2175	FANCA	ORPHA:84
HP:0001760	Abnormal foot morphology	2187	FANCB	ORPHA:84
HP:0001760	Abnormal foot morphology	2176	FANCC	ORPHA:84
HP:0001760	Abnormal foot morphology	2178	FANCE	ORPHA:84
HP:0001760	Abnormal foot morphology	2188	FANCF	ORPHA:84
HP:0001760	Abnormal foot morphology	2189	FANCG	ORPHA:84
HP:0001760	Abnormal foot morphology	5888	RAD51	ORPHA:84
HP:0001760	Abnormal foot morphology	5889	RAD51C	ORPHA:84
HP:0001760	Abnormal foot morphology	55159	RFWD3	ORPHA:84
HP:0001760	Abnormal foot morphology	83990	BRIP1	ORPHA:84
HP:0001760	Abnormal foot morphology	57697	FANCM	ORPHA:84
HP:0001760	Abnormal foot morphology	79728	PALB2	ORPHA:84
HP:0001760	Abnormal foot morphology	84464	SLX4	ORPHA:84
HP:0001760	Abnormal foot morphology	2072	ERCC4	ORPHA:84
HP:0001760	Abnormal foot morphology	55215	FANCI	ORPHA:84
HP:0001760	Abnormal foot morphology	6578	SLCO2A1	ORPHA:2796
HP:0001760	Abnormal foot morphology	7092	TLL1	ORPHA:99106
HP:0001760	Abnormal foot morphology	54345	SOX18	ORPHA:69735
HP:0001762	Talipes equinovarus	9853	RUSC2	OMIM:617773
HP:0001762	Talipes equinovarus	4010	LMX1B	ORPHA:2614
HP:0001762	Talipes equinovarus	4010	LMX1B	ORPHA:495818
HP:0001762	Talipes equinovarus	4010	LMX1B	OMIM:161200
HP:0001762	Talipes equinovarus	3008	H1-4	OMIM:617537
HP:0001762	Talipes equinovarus	84942	WDR73	OMIM:251300
HP:0001762	Talipes equinovarus	1131	CHRM3	ORPHA:2970
HP:0001762	Talipes equinovarus	1131	CHRM3	OMIM:100100
HP:0001762	Talipes equinovarus	5830	PEX5	OMIM:214110
HP:0001762	Talipes equinovarus	5830	PEX5	OMIM:616716
HP:0001762	Talipes equinovarus	4487	MSX1	ORPHA:199302
HP:0001762	Talipes equinovarus	5818	NECTIN1	ORPHA:199302
HP:0001762	Talipes equinovarus	8626	TP63	ORPHA:199302
HP:0001762	Talipes equinovarus	3664	IRF6	ORPHA:199302
HP:0001762	Talipes equinovarus	3664	IRF6	OMIM:119500
HP:0001762	Talipes equinovarus	3190	HNRNPK	ORPHA:453504
HP:0001762	Talipes equinovarus	3190	HNRNPK	ORPHA:352665
HP:0001762	Talipes equinovarus	2317	FLNB	ORPHA:56305
HP:0001762	Talipes equinovarus	2317	FLNB	OMIM:272460
HP:0001762	Talipes equinovarus	2317	FLNB	ORPHA:1190
HP:0001762	Talipes equinovarus	2317	FLNB	OMIM:108721
HP:0001762	Talipes equinovarus	2317	FLNB	OMIM:108720
HP:0001762	Talipes equinovarus	2317	FLNB	OMIM:150250
HP:0001762	Talipes equinovarus	6662	SOX9	ORPHA:140
HP:0001762	Talipes equinovarus	6662	SOX9	OMIM:114290
HP:0001762	Talipes equinovarus	10743	RAI1	ORPHA:477817
HP:0001762	Talipes equinovarus	54332	GDAP1	OMIM:607831
HP:0001762	Talipes equinovarus	54332	GDAP1	ORPHA:101097
HP:0001762	Talipes equinovarus	54332	GDAP1	OMIM:608340
HP:0001762	Talipes equinovarus	56704	JPH1	OMIM:607831
HP:0001762	Talipes equinovarus	2073	ERCC5	OMIM:616570
HP:0001762	Talipes equinovarus	6536	SLC6A9	OMIM:617301
HP:0001762	Talipes equinovarus	64412	GZF1	OMIM:617662
HP:0001762	Talipes equinovarus	51111	KMT5B	OMIM:617788
HP:0001762	Talipes equinovarus	84466	MEGF10	OMIM:614399
HP:0001762	Talipes equinovarus	2201	FBN2	OMIM:121050
HP:0001762	Talipes equinovarus	3508	IGHMBP2	OMIM:604320
HP:0001762	Talipes equinovarus	3508	IGHMBP2	OMIM:616155
HP:0001762	Talipes equinovarus	81846	SBF2	OMIM:604563
HP:0001762	Talipes equinovarus	79158	GNPTAB	OMIM:252500
HP:0001762	Talipes equinovarus	79158	GNPTAB	ORPHA:576
HP:0001762	Talipes equinovarus	57231	SNX14	ORPHA:397709
HP:0001762	Talipes equinovarus	57231	SNX14	OMIM:616354
HP:0001762	Talipes equinovarus	5189	PEX1	OMIM:214100
HP:0001762	Talipes equinovarus	60561	RINT1	OMIM:618641
HP:0001762	Talipes equinovarus	129685	TAF8	OMIM:619972
HP:0001762	Talipes equinovarus	23321	TRIM2	OMIM:615490
HP:0001762	Talipes equinovarus	9469	CHST3	OMIM:143095
HP:0001762	Talipes equinovarus	9469	CHST3	OMIM:245600
HP:0001762	Talipes equinovarus	10606	PAICS	OMIM:619859
HP:0001762	Talipes equinovarus	3339	HSPG2	ORPHA:1865
HP:0001762	Talipes equinovarus	3339	HSPG2	OMIM:255800
HP:0001762	Talipes equinovarus	3339	HSPG2	OMIM:224410
HP:0001762	Talipes equinovarus	3339	HSPG2	ORPHA:800
HP:0001762	Talipes equinovarus	1277	COL1A1	ORPHA:287
HP:0001762	Talipes equinovarus	1289	COL5A1	ORPHA:287
HP:0001762	Talipes equinovarus	1290	COL5A2	ORPHA:287
HP:0001762	Talipes equinovarus	1290	COL5A2	OMIM:130010
HP:0001762	Talipes equinovarus	1281	COL3A1	ORPHA:286
HP:0001762	Talipes equinovarus	1281	COL3A1	OMIM:618343
HP:0001762	Talipes equinovarus	1281	COL3A1	OMIM:130050
HP:0001762	Talipes equinovarus	10815	CPLX1	ORPHA:280
HP:0001762	Talipes equinovarus	10815	CPLX1	OMIM:194190
HP:0001762	Talipes equinovarus	54872	PIGG	ORPHA:280
HP:0001762	Talipes equinovarus	7469	NELFA	ORPHA:280
HP:0001762	Talipes equinovarus	1487	CTBP1	ORPHA:280
HP:0001762	Talipes equinovarus	1487	CTBP1	OMIM:194190
HP:0001762	Talipes equinovarus	3954	LETM1	ORPHA:280
HP:0001762	Talipes equinovarus	3954	LETM1	OMIM:194190
HP:0001762	Talipes equinovarus	7468	NSD2	ORPHA:280
HP:0001762	Talipes equinovarus	7468	NSD2	OMIM:194190
HP:0001762	Talipes equinovarus	22872	SEC31A	OMIM:618651
HP:0001762	Talipes equinovarus	57498	KIDINS220	OMIM:619501
HP:0001762	Talipes equinovarus	5442	POLRMT	OMIM:619743
HP:0001762	Talipes equinovarus	23327	NEDD4L	OMIM:617201
HP:0001762	Talipes equinovarus	8642	DCHS1	OMIM:601390
HP:0001762	Talipes equinovarus	8642	DCHS1	ORPHA:314679
HP:0001762	Talipes equinovarus	26040	SETBP1	OMIM:269150
HP:0001762	Talipes equinovarus	8241	RBM10	OMIM:311900
HP:0001762	Talipes equinovarus	8241	RBM10	ORPHA:2886
HP:0001762	Talipes equinovarus	57167	SALL4	ORPHA:233
HP:0001762	Talipes equinovarus	9935	MAFB	ORPHA:233
HP:0001762	Talipes equinovarus	1123	CHN1	ORPHA:233
HP:0001762	Talipes equinovarus	59341	TRPV4	OMIM:600175
HP:0001762	Talipes equinovarus	59341	TRPV4	OMIM:181405
HP:0001762	Talipes equinovarus	6261	RYR1	ORPHA:597
HP:0001762	Talipes equinovarus	6261	RYR1	ORPHA:178145
HP:0001762	Talipes equinovarus	6261	RYR1	ORPHA:169186
HP:0001762	Talipes equinovarus	79659	DYNC2H1	OMIM:613091
HP:0001762	Talipes equinovarus	11285	B4GALT7	OMIM:130070
HP:0001762	Talipes equinovarus	3572	IL6ST	OMIM:619752
HP:0001762	Talipes equinovarus	10717	AP4B1	OMIM:614066
HP:0001762	Talipes equinovarus	63895	PIEZO2	OMIM:114300
HP:0001762	Talipes equinovarus	63895	PIEZO2	OMIM:617146
HP:0001762	Talipes equinovarus	63895	PIEZO2	OMIM:248700
HP:0001762	Talipes equinovarus	91574	MTRFR	OMIM:615035
HP:0001762	Talipes equinovarus	91574	MTRFR	ORPHA:320375
HP:0001762	Talipes equinovarus	11154	AP4S1	OMIM:614067
HP:0001762	Talipes equinovarus	7862	BRPF1	OMIM:617333
HP:0001762	Talipes equinovarus	55773	TBC1D23	OMIM:617695
HP:0001762	Talipes equinovarus	51633	OTUD6B	OMIM:617452
HP:0001762	Talipes equinovarus	51633	OTUD6B	ORPHA:505237
HP:0001762	Talipes equinovarus	84665	MYPN	OMIM:617336
HP:0001762	Talipes equinovarus	286	ANK1	ORPHA:251066
HP:0001762	Talipes equinovarus	145258	GSC	OMIM:602471
HP:0001762	Talipes equinovarus	8898	MTMR2	OMIM:601382
HP:0001762	Talipes equinovarus	79796	ALG9	ORPHA:79328
HP:0001762	Talipes equinovarus	8314	BAP1	OMIM:619762
HP:0001762	Talipes equinovarus	163175	LGI4	OMIM:617468
HP:0001762	Talipes equinovarus	7140	TNNT3	OMIM:618435
HP:0001762	Talipes equinovarus	4621	MYH3	OMIM:618436
HP:0001762	Talipes equinovarus	4621	MYH3	OMIM:618469
HP:0001762	Talipes equinovarus	4621	MYH3	OMIM:193700
HP:0001762	Talipes equinovarus	4621	MYH3	ORPHA:2053
HP:0001762	Talipes equinovarus	6901	TAFAZZIN	OMIM:302060
HP:0001762	Talipes equinovarus	79633	FAT4	ORPHA:314679
HP:0001762	Talipes equinovarus	79633	FAT4	OMIM:615546
HP:0001762	Talipes equinovarus	57688	ZSWIM6	OMIM:603671
HP:0001762	Talipes equinovarus	57688	ZSWIM6	ORPHA:1827
HP:0001762	Talipes equinovarus	57688	ZSWIM6	OMIM:617865
HP:0001762	Talipes equinovarus	124583	CANT1	OMIM:251450
HP:0001762	Talipes equinovarus	4626	MYH8	OMIM:158300
HP:0001762	Talipes equinovarus	23299	BICD2	OMIM:615290
HP:0001762	Talipes equinovarus	23299	BICD2	OMIM:618291
HP:0001762	Talipes equinovarus	7030	TFE3	OMIM:301066
HP:0001762	Talipes equinovarus	2239	GPC4	ORPHA:373
HP:0001762	Talipes equinovarus	2239	GPC4	OMIM:312870
HP:0001762	Talipes equinovarus	2719	GPC3	ORPHA:373
HP:0001762	Talipes equinovarus	2719	GPC3	OMIM:312870
HP:0001762	Talipes equinovarus	51651	PTRH2	OMIM:616263
HP:0001762	Talipes equinovarus	339855	KY	OMIM:617114
HP:0001762	Talipes equinovarus	339855	KY	ORPHA:496689
HP:0001762	Talipes equinovarus	259232	NALCN	OMIM:616266
HP:0001762	Talipes equinovarus	259232	NALCN	ORPHA:2053
HP:0001762	Talipes equinovarus	259232	NALCN	ORPHA:371364
HP:0001762	Talipes equinovarus	23483	TGDS	OMIM:616145
HP:0001762	Talipes equinovarus	2006	ELN	ORPHA:90348
HP:0001762	Talipes equinovarus	10516	FBLN5	ORPHA:90348
HP:0001762	Talipes equinovarus	5832	ALDH18A1	ORPHA:90348
HP:0001762	Talipes equinovarus	5832	ALDH18A1	OMIM:219150
HP:0001762	Talipes equinovarus	5832	ALDH18A1	OMIM:616603
HP:0001762	Talipes equinovarus	79087	ALG12	ORPHA:79324
HP:0001762	Talipes equinovarus	79087	ALG12	OMIM:607143
HP:0001762	Talipes equinovarus	79053	ALG8	ORPHA:79325
HP:0001762	Talipes equinovarus	79053	ALG8	OMIM:608104
HP:0001762	Talipes equinovarus	79628	SH3TC2	OMIM:601596
HP:0001762	Talipes equinovarus	10195	ALG3	OMIM:601110
HP:0001762	Talipes equinovarus	1917	EEF1A2	OMIM:616393
HP:0001762	Talipes equinovarus	58497	PRUNE1	OMIM:617481
HP:0001762	Talipes equinovarus	54101	RIPK4	OMIM:263650
HP:0001762	Talipes equinovarus	9427	ECEL1	OMIM:615065
HP:0001762	Talipes equinovarus	7046	TGFBR1	OMIM:609192
HP:0001762	Talipes equinovarus	1674	DES	OMIM:181400
HP:0001762	Talipes equinovarus	389827	MYMK	OMIM:254940
HP:0001762	Talipes equinovarus	389827	MYMK	ORPHA:1358
HP:0001762	Talipes equinovarus	2879	GPX4	OMIM:250220
HP:0001762	Talipes equinovarus	9949	AMMECR1	OMIM:300990
HP:0001762	Talipes equinovarus	9488	PIGB	OMIM:618580
HP:0001762	Talipes equinovarus	1291	COL6A1	OMIM:254090
HP:0001762	Talipes equinovarus	1292	COL6A2	OMIM:254090
HP:0001762	Talipes equinovarus	1293	COL6A3	OMIM:254090
HP:0001762	Talipes equinovarus	5351	PLOD1	OMIM:225400
HP:0001762	Talipes equinovarus	5351	PLOD1	ORPHA:1900
HP:0001762	Talipes equinovarus	160418	TMTC3	OMIM:617255
HP:0001762	Talipes equinovarus	6885	MAP3K7	OMIM:617137
HP:0001762	Talipes equinovarus	23314	SATB2	ORPHA:251028
HP:0001762	Talipes equinovarus	23314	SATB2	ORPHA:251019
HP:0001762	Talipes equinovarus	23314	SATB2	OMIM:612313
HP:0001762	Talipes equinovarus	9256	TSPOAP1	ORPHA:101150
HP:0001762	Talipes equinovarus	7054	TH	ORPHA:101150
HP:0001762	Talipes equinovarus	10733	PLK4	OMIM:616171
HP:0001762	Talipes equinovarus	7707	ZNF148	OMIM:617260
HP:0001762	Talipes equinovarus	91754	NEK9	OMIM:617022
HP:0001762	Talipes equinovarus	117581	TWIST2	OMIM:200110
HP:0001762	Talipes equinovarus	117581	TWIST2	OMIM:209885
HP:0001762	Talipes equinovarus	9179	AP4M1	OMIM:612936
HP:0001762	Talipes equinovarus	1491	CTH	ORPHA:212
HP:0001762	Talipes equinovarus	5980	REV3L	ORPHA:570
HP:0001762	Talipes equinovarus	23129	PLXND1	ORPHA:570
HP:0001762	Talipes equinovarus	3039	HBA1	ORPHA:98791
HP:0001762	Talipes equinovarus	3040	HBA2	ORPHA:98791
HP:0001762	Talipes equinovarus	7476	WNT7A	OMIM:228930
HP:0001762	Talipes equinovarus	4998	ORC1	OMIM:224690
HP:0001762	Talipes equinovarus	23345	SYNE1	OMIM:618484
HP:0001762	Talipes equinovarus	64856	VWA1	OMIM:619216
HP:0001762	Talipes equinovarus	1312	COMT	ORPHA:567
HP:0001762	Talipes equinovarus	221037	JMJD1C	ORPHA:567
HP:0001762	Talipes equinovarus	2812	GP1BB	ORPHA:567
HP:0001762	Talipes equinovarus	6239	RREB1	ORPHA:567
HP:0001762	Talipes equinovarus	6899	TBX1	ORPHA:567
HP:0001762	Talipes equinovarus	7290	HIRA	ORPHA:567
HP:0001762	Talipes equinovarus	9632	SEC24C	ORPHA:567
HP:0001762	Talipes equinovarus	7353	UFD1	ORPHA:567
HP:0001762	Talipes equinovarus	421	ARVCF	ORPHA:567
HP:0001762	Talipes equinovarus	7136	TNNI2	OMIM:601680
HP:0001762	Talipes equinovarus	4547	MTTP	ORPHA:14
HP:0001762	Talipes equinovarus	2064	ERBB2	OMIM:619465
HP:0001762	Talipes equinovarus	84896	ATAD1	OMIM:618011
HP:0001762	Talipes equinovarus	51715	RAB23	ORPHA:65759
HP:0001762	Talipes equinovarus	1954	MEGF8	ORPHA:65759
HP:0001762	Talipes equinovarus	1954	MEGF8	OMIM:614976
HP:0001762	Talipes equinovarus	1280	COL2A1	OMIM:183900
HP:0001762	Talipes equinovarus	9244	CRLF1	OMIM:272430
HP:0001762	Talipes equinovarus	23594	ORC6	OMIM:613803
HP:0001762	Talipes equinovarus	84265	POLR3GL	OMIM:619234
HP:0001762	Talipes equinovarus	80347	COASY	OMIM:618266
HP:0001762	Talipes equinovarus	54809	SAMD9	OMIM:617053
HP:0001762	Talipes equinovarus	57003	CCDC47	OMIM:618268
HP:0001762	Talipes equinovarus	10526	IPO8	OMIM:619472
HP:0001762	Talipes equinovarus	29895	MYL11	OMIM:619110
HP:0001762	Talipes equinovarus	6711	SPTBN1	OMIM:619475
HP:0001762	Talipes equinovarus	1387	CREBBP	OMIM:180849
HP:0001762	Talipes equinovarus	2033	EP300	OMIM:180849
HP:0001762	Talipes equinovarus	57514	ARHGAP31	OMIM:100300
HP:0001762	Talipes equinovarus	246329	STAC3	ORPHA:168572
HP:0001762	Talipes equinovarus	25839	COG4	OMIM:618150
HP:0001762	Talipes equinovarus	25839	COG4	ORPHA:85172
HP:0001762	Talipes equinovarus	113189	CHST14	OMIM:601776
HP:0001762	Talipes equinovarus	2571	GAD1	OMIM:619124
HP:0001762	Talipes equinovarus	285590	SH3PXD2B	OMIM:249420
HP:0001762	Talipes equinovarus	374879	ZNF699	OMIM:619488
HP:0001762	Talipes equinovarus	57477	SHROOM4	ORPHA:85288
HP:0001762	Talipes equinovarus	64093	SMOC1	OMIM:206920
HP:0001762	Talipes equinovarus	64093	SMOC1	ORPHA:1106
HP:0001762	Talipes equinovarus	50485	SMARCAL1	OMIM:242900
HP:0001762	Talipes equinovarus	60681	FKBP10	OMIM:259450
HP:0001762	Talipes equinovarus	60681	FKBP10	ORPHA:2771
HP:0001762	Talipes equinovarus	126792	B3GALT6	OMIM:271640
HP:0001762	Talipes equinovarus	126792	B3GALT6	ORPHA:93359
HP:0001762	Talipes equinovarus	126792	B3GALT6	ORPHA:536467
HP:0001762	Talipes equinovarus	126792	B3GALT6	OMIM:615349
HP:0001762	Talipes equinovarus	7169	TPM2	OMIM:108120
HP:0001762	Talipes equinovarus	7169	TPM2	ORPHA:2020
HP:0001762	Talipes equinovarus	80267	EDEM3	OMIM:619493
HP:0001762	Talipes equinovarus	1836	SLC26A2	OMIM:256050
HP:0001762	Talipes equinovarus	1836	SLC26A2	OMIM:226900
HP:0001762	Talipes equinovarus	1836	SLC26A2	ORPHA:93298
HP:0001762	Talipes equinovarus	1836	SLC26A2	ORPHA:93307
HP:0001762	Talipes equinovarus	1836	SLC26A2	OMIM:222600
HP:0001762	Talipes equinovarus	8242	KDM5C	ORPHA:85279
HP:0001762	Talipes equinovarus	8242	KDM5C	OMIM:300534
HP:0001762	Talipes equinovarus	2733	GLE1	OMIM:611890
HP:0001762	Talipes equinovarus	26276	VPS33B	OMIM:620009
HP:0001762	Talipes equinovarus	60386	SLC25A19	OMIM:613710
HP:0001762	Talipes equinovarus	1968	EIF2S3	ORPHA:85282
HP:0001762	Talipes equinovarus	3295	HSD17B4	OMIM:261515
HP:0001762	Talipes equinovarus	3295	HSD17B4	OMIM:233400
HP:0001762	Talipes equinovarus	219844	HYLS1	OMIM:236680
HP:0001762	Talipes equinovarus	8139	GAN	ORPHA:643
HP:0001762	Talipes equinovarus	8139	GAN	OMIM:256850
HP:0001762	Talipes equinovarus	6913	TBX15	OMIM:260660
HP:0001762	Talipes equinovarus	9927	MFN2	OMIM:617087
HP:0001762	Talipes equinovarus	8516	ITGA8	OMIM:191830
HP:0001762	Talipes equinovarus	25793	FBXO7	OMIM:260300
HP:0001762	Talipes equinovarus	25793	FBXO7	ORPHA:171695
HP:0001762	Talipes equinovarus	4233	MET	OMIM:620019
HP:0001762	Talipes equinovarus	26123	TCTN3	OMIM:614815
HP:0001762	Talipes equinovarus	7042	TGFB2	OMIM:614816
HP:0001762	Talipes equinovarus	65055	REEP1	OMIM:620011
HP:0001762	Talipes equinovarus	168667	BMPER	OMIM:608022
HP:0001762	Talipes equinovarus	2643	GCH1	OMIM:128230
HP:0001762	Talipes equinovarus	2643	GCH1	ORPHA:98808
HP:0001762	Talipes equinovarus	199857	ALG14	OMIM:619036
HP:0001762	Talipes equinovarus	10262	SF3B4	OMIM:154400
HP:0001762	Talipes equinovarus	10262	SF3B4	ORPHA:1788
HP:0001762	Talipes equinovarus	7355	SLC35A2	ORPHA:356961
HP:0001762	Talipes equinovarus	775	CACNA1C	OMIM:620029
HP:0001762	Talipes equinovarus	8854	ALDH1A2	OMIM:620025
HP:0001762	Talipes equinovarus	81839	VANGL1	ORPHA:3027
HP:0001762	Talipes equinovarus	80199	FUZ	ORPHA:3027
HP:0001762	Talipes equinovarus	5352	PLOD2	OMIM:609220
HP:0001762	Talipes equinovarus	5352	PLOD2	ORPHA:2771
HP:0001762	Talipes equinovarus	64324	NSD1	ORPHA:821
HP:0001762	Talipes equinovarus	64324	NSD1	ORPHA:3447
HP:0001762	Talipes equinovarus	29072	SETD2	ORPHA:821
HP:0001762	Talipes equinovarus	10297	APC2	ORPHA:821
HP:0001762	Talipes equinovarus	5447	POR	ORPHA:95699
HP:0001762	Talipes equinovarus	9401	RECQL4	OMIM:268400
HP:0001762	Talipes equinovarus	9496	TBX4	ORPHA:238578
HP:0001762	Talipes equinovarus	57222	ERGIC1	OMIM:208100
HP:0001762	Talipes equinovarus	4649	MYO9A	OMIM:618198
HP:0001762	Talipes equinovarus	6812	STXBP1	ORPHA:495818
HP:0001762	Talipes equinovarus	22858	CILK1	OMIM:612651
HP:0001762	Talipes equinovarus	55788	LMBRD1	OMIM:277380
HP:0001762	Talipes equinovarus	23431	AP4E1	OMIM:613744
HP:0001762	Talipes equinovarus	25782	RAB3GAP2	OMIM:212720
HP:0001762	Talipes equinovarus	9382	COG1	OMIM:611209
HP:0001762	Talipes equinovarus	9382	COG1	ORPHA:263508
HP:0001762	Talipes equinovarus	3549	IHH	ORPHA:93388
HP:0001762	Talipes equinovarus	8200	GDF5	ORPHA:93388
HP:0001762	Talipes equinovarus	8200	GDF5	OMIM:610017
HP:0001762	Talipes equinovarus	8200	GDF5	OMIM:113100
HP:0001762	Talipes equinovarus	658	BMPR1B	ORPHA:93388
HP:0001762	Talipes equinovarus	658	BMPR1B	OMIM:609441
HP:0001762	Talipes equinovarus	6595	SMARCA2	OMIM:619293
HP:0001762	Talipes equinovarus	1146	CHRNG	OMIM:265000
HP:0001762	Talipes equinovarus	274	BIN1	OMIM:255200
HP:0001762	Talipes equinovarus	274	BIN1	ORPHA:169186
HP:0001762	Talipes equinovarus	5119	CHMP1A	OMIM:614961
HP:0001762	Talipes equinovarus	23522	KAT6B	OMIM:606170
HP:0001762	Talipes equinovarus	23522	KAT6B	ORPHA:85201
HP:0001762	Talipes equinovarus	118813	ZFYVE27	OMIM:610244
HP:0001762	Talipes equinovarus	546	ATRX	ORPHA:847
HP:0001762	Talipes equinovarus	546	ATRX	OMIM:309580
HP:0001762	Talipes equinovarus	546	ATRX	OMIM:301040
HP:0001762	Talipes equinovarus	57190	SELENON	ORPHA:2020
HP:0001762	Talipes equinovarus	58	ACTA1	ORPHA:2020
HP:0001762	Talipes equinovarus	4633	MYL2	ORPHA:2020
HP:0001762	Talipes equinovarus	3679	ITGA7	ORPHA:2020
HP:0001762	Talipes equinovarus	9200	HACD1	ORPHA:2020
HP:0001762	Talipes equinovarus	7170	TPM3	ORPHA:2020
HP:0001762	Talipes equinovarus	51776	MAP3K20	ORPHA:2020
HP:0001762	Talipes equinovarus	10682	EBP	ORPHA:35173
HP:0001762	Talipes equinovarus	79813	EHMT1	OMIM:610253
HP:0001762	Talipes equinovarus	23545	ATP6V0A2	OMIM:278250
HP:0001762	Talipes equinovarus	79867	TCTN2	OMIM:613885
HP:0001762	Talipes equinovarus	79867	TCTN2	OMIM:616654
HP:0001762	Talipes equinovarus	2218	FKTN	OMIM:611588
HP:0001762	Talipes equinovarus	53834	FGFRL1	OMIM:194190
HP:0001762	Talipes equinovarus	3265	HRAS	OMIM:218040
HP:0001762	Talipes equinovarus	121512	FGD4	OMIM:609311
HP:0001762	Talipes equinovarus	5376	PMP22	ORPHA:3115
HP:0001762	Talipes equinovarus	4359	MPZ	ORPHA:3115
HP:0001762	Talipes equinovarus	4593	MUSK	OMIM:208150
HP:0001762	Talipes equinovarus	5828	PEX2	OMIM:614866
HP:0001762	Talipes equinovarus	79753	SNIP1	OMIM:614501
HP:0001762	Talipes equinovarus	54499	TMCO1	OMIM:213980
HP:0001762	Talipes equinovarus	11128	POLR3A	OMIM:264090
HP:0001762	Talipes equinovarus	55165	CEP55	OMIM:236500
HP:0001762	Talipes equinovarus	1303	COL12A1	ORPHA:536516
HP:0001762	Talipes equinovarus	55670	PEX26	OMIM:614872
HP:0001762	Talipes equinovarus	7443	VRK1	OMIM:607596
HP:0001762	Talipes equinovarus	3911	LAMA5	OMIM:620076
HP:0001762	Talipes equinovarus	9101	USP8	ORPHA:401795
HP:0001762	Talipes equinovarus	2121	EVC	OMIM:225500
HP:0001762	Talipes equinovarus	132884	EVC2	OMIM:225500
HP:0001762	Talipes equinovarus	3977	LIFR	ORPHA:3206
HP:0001762	Talipes equinovarus	4088	SMAD3	OMIM:613795
HP:0001762	Talipes equinovarus	6611	SMS	OMIM:309583
HP:0001762	Talipes equinovarus	2146	EZH2	OMIM:277590
HP:0001762	Talipes equinovarus	2146	EZH2	ORPHA:3447
HP:0001762	Talipes equinovarus	7048	TGFBR2	OMIM:610168
HP:0001762	Talipes equinovarus	55679	LIMS2	OMIM:616827
HP:0001762	Talipes equinovarus	147372	CCBE1	OMIM:235510
HP:0001762	Talipes equinovarus	3098	HK1	ORPHA:99953
HP:0001762	Talipes equinovarus	8726	EED	ORPHA:3447
HP:0001762	Talipes equinovarus	23512	SUZ12	ORPHA:3447
HP:0001762	Talipes equinovarus	9775	EIF4A3	OMIM:268305
HP:0001762	Talipes equinovarus	6622	SNCA	ORPHA:171695
HP:0001762	Talipes equinovarus	667	DST	OMIM:614653
HP:0001762	Talipes equinovarus	2316	FLNA	OMIM:309350
HP:0001762	Talipes equinovarus	57410	SCYL1	OMIM:616719
HP:0001762	Talipes equinovarus	57410	SCYL1	ORPHA:466794
HP:0001762	Talipes equinovarus	3315	HSPB1	ORPHA:99940
HP:0001762	Talipes equinovarus	6309	SC5D	OMIM:607330
HP:0001762	Talipes equinovarus	10290	SPEG	ORPHA:169186
HP:0001762	Talipes equinovarus	7273	TTN	ORPHA:169186
HP:0001762	Talipes equinovarus	55906	ZC4H2	OMIM:301041
HP:0001762	Talipes equinovarus	55906	ZC4H2	OMIM:314580
HP:0001762	Talipes equinovarus	9158	FIBP	ORPHA:500095
HP:0001762	Talipes equinovarus	579	NKX3-2	OMIM:613330
HP:0001762	Talipes equinovarus	2290	FOXG1	OMIM:613454
HP:0001762	Talipes equinovarus	55593	OTUD5	OMIM:301056
HP:0001762	Talipes equinovarus	9150	CTDP1	OMIM:604168
HP:0001762	Talipes equinovarus	91179	SCARF2	OMIM:600920
HP:0001762	Talipes equinovarus	113179	ADAT3	ORPHA:363528
HP:0001762	Talipes equinovarus	84162	BLTP1	OMIM:617822
HP:0001762	Talipes equinovarus	1278	COL1A2	OMIM:617821
HP:0001762	Talipes equinovarus	55784	MCTP2	ORPHA:1596
HP:0001762	Talipes equinovarus	55033	FKBP14	OMIM:614557
HP:0001762	Talipes equinovarus	3897	L1CAM	OMIM:303350
HP:0001762	Talipes equinovarus	54820	NDE1	OMIM:605013
HP:0001762	Talipes equinovarus	2891	GRIA2	OMIM:618917
HP:0001762	Talipes equinovarus	101929726	MYMX	ORPHA:1358
HP:0001762	Talipes equinovarus	54808	DYM	OMIM:223800
HP:0001762	Talipes equinovarus	64135	IFIH1	OMIM:182250
HP:0001762	Talipes equinovarus	5530	PPP3CA	OMIM:617711
HP:0001762	Talipes equinovarus	57211	ADGRG6	OMIM:616503
HP:0001762	Talipes equinovarus	284086	NEK8	OMIM:615415
HP:0001762	Talipes equinovarus	29940	DSE	OMIM:615539
HP:0001762	Talipes equinovarus	27077	B9D1	OMIM:614209
HP:0001762	Talipes equinovarus	84342	COG8	OMIM:611182
HP:0001762	Talipes equinovarus	79576	NKAP	OMIM:301039
HP:0001762	Talipes equinovarus	4604	MYBPC1	OMIM:614335
HP:0001762	Talipes equinovarus	57449	PLEKHG5	OMIM:611067
HP:0001762	Talipes equinovarus	57531	HACE1	OMIM:616756
HP:0001762	Talipes equinovarus	9419	CRIPT	OMIM:615789
HP:0001762	Talipes equinovarus	29980	DONSON	OMIM:251230
HP:0001762	Talipes equinovarus	340075	ARSI	ORPHA:401815
HP:0001762	Talipes equinovarus	57545	CC2D2A	OMIM:612284
HP:0001762	Talipes equinovarus	4929	NR4A2	ORPHA:98808
HP:0001762	Talipes equinovarus	3615	IMPDH2	ORPHA:98808
HP:0001762	Talipes equinovarus	1861	TOR1A	OMIM:618947
HP:0001762	Talipes equinovarus	23233	EXOC6B	ORPHA:93359
HP:0001762	Talipes equinovarus	285175	UNC80	ORPHA:371364
HP:0001762	Talipes equinovarus	54880	BCOR	OMIM:300166
HP:0001762	Talipes equinovarus	5297	PI4KA	OMIM:616531
HP:0001762	Talipes equinovarus	953	ENTPD1	OMIM:615683
HP:0001762	Talipes equinovarus	10293	TRAIP	OMIM:616777
HP:0001762	Talipes equinovarus	8292	COLQ	ORPHA:98915
HP:0001762	Talipes equinovarus	3913	LAMB2	ORPHA:98915
HP:0001762	Talipes equinovarus	54676	GTPBP2	OMIM:617988
HP:0001762	Talipes equinovarus	113246	C12orf57	OMIM:218340
HP:0001762	Talipes equinovarus	2273	FHL1	OMIM:300280
HP:0001762	Talipes equinovarus	139285	AMER1	OMIM:300373
HP:0001762	Talipes equinovarus	6497	SKI	OMIM:182212
HP:0001762	Talipes equinovarus	9321	TRIP11	OMIM:200600
HP:0001762	Talipes equinovarus	2990	GUSB	OMIM:253220
HP:0001762	Talipes equinovarus	55191	NADSYN1	OMIM:618845
HP:0001762	Talipes equinovarus	23389	MED13L	OMIM:616789
HP:0001762	Talipes equinovarus	9939	RBM8A	OMIM:274000
HP:0001762	Talipes equinovarus	1807	DPYS	OMIM:222748
HP:0001762	Talipes equinovarus	26229	B3GAT3	OMIM:245600
HP:0001762	Talipes equinovarus	5307	PITX1	OMIM:119800
HP:0001762	Talipes equinovarus	22978	NT5C2	OMIM:613162
HP:0001762	Talipes equinovarus	7043	TGFB3	OMIM:615582
HP:0001762	Talipes equinovarus	523	ATP6V1A	OMIM:617403
HP:0001762	Talipes equinovarus	547	KIF1A	OMIM:614255
HP:0001762	Talipes equinovarus	529	ATP6V1E1	OMIM:617402
HP:0001762	Talipes equinovarus	8449	DHX16	OMIM:618733
HP:0001762	Talipes equinovarus	2737	GLI3	ORPHA:93322
HP:0001762	Talipes equinovarus	1718	DHCR24	OMIM:602398
HP:0001762	Talipes equinovarus	1182	CLCN3	OMIM:619512
HP:0001762	Talipes equinovarus	84879	MFSD2A	OMIM:616486
HP:0001762	Talipes equinovarus	8506	CNTNAP1	OMIM:618186
HP:0001762	Talipes equinovarus	348180	CTU2	OMIM:618142
HP:0001762	Talipes equinovarus	340419	RSPO2	OMIM:618022
HP:0001762	Talipes equinovarus	92002	CCNQ	OMIM:300707
HP:0001762	Talipes equinovarus	23040	MYT1L	OMIM:616521
HP:0001762	Talipes equinovarus	80036	TRPM3	OMIM:620224
HP:0001762	Talipes equinovarus	4125	MAN2B1	ORPHA:309282
HP:0001762	Talipes equinovarus	6857	SYT1	ORPHA:522077
HP:0001762	Talipes equinovarus	5594	MAPK1	OMIM:619087
HP:0001762	Talipes equinovarus	10730	YME1L1	OMIM:617302
HP:0001762	Talipes equinovarus	7291	TWIST1	OMIM:617746
HP:0001762	Talipes equinovarus	23169	SLC35D1	OMIM:269250
HP:0001762	Talipes equinovarus	7547	ZIC3	OMIM:306955
HP:0001762	Talipes equinovarus	342035	GLDN	OMIM:617194
HP:0001762	Talipes equinovarus	4123	MAN2C1	OMIM:619775
HP:0001762	Talipes equinovarus	55120	FANCL	OMIM:614083
HP:0001762	Talipes equinovarus	9487	PIGL	OMIM:280000
HP:0001762	Talipes equinovarus	7920	ABHD16A	OMIM:619735
HP:0001762	Talipes equinovarus	29968	PSAT1	ORPHA:284417
HP:0001762	Talipes equinovarus	1496	CTNNA2	OMIM:618174
HP:0001762	Talipes equinovarus	8985	PLOD3	OMIM:612394
HP:0001762	Talipes equinovarus	2720	GLB1	OMIM:253010
HP:0001762	Talipes equinovarus	55636	CHD7	OMIM:214800
HP:0001762	Talipes equinovarus	7319	UBE2A	ORPHA:163956
HP:0001762	Talipes equinovarus	6638	SNRPN	ORPHA:177907
HP:0001762	Talipes equinovarus	9230	RAB11B	OMIM:617807
HP:0001762	Talipes equinovarus	10397	NDRG1	OMIM:601455
HP:0001762	Talipes equinovarus	6872	TAF1	OMIM:300966
HP:0001762	Talipes equinovarus	4625	MYH7	ORPHA:59135
HP:0001762	Talipes equinovarus	56997	COQ8A	ORPHA:139485
HP:0001763	Pes planus	64374	SIL1	OMIM:248800
HP:0001763	Pes planus	4359	MPZ	OMIM:618184
HP:0001763	Pes planus	4359	MPZ	OMIM:145900
HP:0001763	Pes planus	8450	CUL4B	OMIM:300354
HP:0001763	Pes planus	8367	H4C5	OMIM:619950
HP:0001763	Pes planus	83932	SPRTN	OMIM:616200
HP:0001763	Pes planus	128674	PROKR2	OMIM:244200
HP:0001763	Pes planus	128674	PROKR2	ORPHA:478
HP:0001763	Pes planus	2132	EXT2	OMIM:616682
HP:0001763	Pes planus	392255	GDF6	OMIM:617898
HP:0001763	Pes planus	22880	MORC2	OMIM:616688
HP:0001763	Pes planus	4010	LMX1B	ORPHA:2614
HP:0001763	Pes planus	4010	LMX1B	OMIM:161200
HP:0001763	Pes planus	51126	NAA20	OMIM:619717
HP:0001763	Pes planus	2972	BRF1	OMIM:616202
HP:0001763	Pes planus	2904	GRIN2B	OMIM:613970
HP:0001763	Pes planus	775	CACNA1C	OMIM:620029
HP:0001763	Pes planus	538	ATP7A	OMIM:304150
HP:0001763	Pes planus	538	ATP7A	ORPHA:198
HP:0001763	Pes planus	10159	ATP6AP2	ORPHA:93952
HP:0001763	Pes planus	1299	COL9A3	OMIM:620022
HP:0001763	Pes planus	64324	NSD1	ORPHA:821
HP:0001763	Pes planus	64324	NSD1	OMIM:117550
HP:0001763	Pes planus	29072	SETD2	ORPHA:821
HP:0001763	Pes planus	10297	APC2	ORPHA:821
HP:0001763	Pes planus	3190	HNRNPK	ORPHA:453504
HP:0001763	Pes planus	3190	HNRNPK	ORPHA:352665
HP:0001763	Pes planus	7879	RAB7A	OMIM:600882
HP:0001763	Pes planus	10743	RAI1	ORPHA:477817
HP:0001763	Pes planus	10743	RAI1	ORPHA:819
HP:0001763	Pes planus	10743	RAI1	OMIM:182290
HP:0001763	Pes planus	116931	MED12L	OMIM:618872
HP:0001763	Pes planus	9578	CDC42BPB	OMIM:619841
HP:0001763	Pes planus	1278	COL1A2	ORPHA:230851
HP:0001763	Pes planus	1278	COL1A2	OMIM:617821
HP:0001763	Pes planus	1278	COL1A2	OMIM:225320
HP:0001763	Pes planus	613	BCR	ORPHA:261330
HP:0001763	Pes planus	1399	CRKL	ORPHA:261330
HP:0001763	Pes planus	5594	MAPK1	ORPHA:261330
HP:0001763	Pes planus	5594	MAPK1	OMIM:619087
HP:0001763	Pes planus	3021	H3-3B	OMIM:619721
HP:0001763	Pes planus	80816	ASXL3	OMIM:615485
HP:0001763	Pes planus	80816	ASXL3	ORPHA:352577
HP:0001763	Pes planus	55790	CSGALNACT1	OMIM:618870
HP:0001763	Pes planus	55690	PACS1	OMIM:615009
HP:0001763	Pes planus	55690	PACS1	ORPHA:329224
HP:0001763	Pes planus	2314	FLII	ORPHA:819
HP:0001763	Pes planus	23096	IQSEC2	ORPHA:819
HP:0001763	Pes planus	23096	IQSEC2	ORPHA:217377
HP:0001763	Pes planus	10522	DEAF1	ORPHA:819
HP:0001763	Pes planus	6662	SOX9	OMIM:114290
HP:0001763	Pes planus	25782	RAB3GAP2	OMIM:212720
HP:0001763	Pes planus	29925	GMPPB	ORPHA:353327
HP:0001763	Pes planus	2673	GFPT1	ORPHA:353327
HP:0001763	Pes planus	1798	DPAGT1	ORPHA:353327
HP:0001763	Pes planus	85365	ALG2	ORPHA:353327
HP:0001763	Pes planus	85365	ALG2	OMIM:616228
HP:0001763	Pes planus	199857	ALG14	ORPHA:353327
HP:0001763	Pes planus	6595	SMARCA2	OMIM:619293
HP:0001763	Pes planus	6197	RPS6KA3	OMIM:303600
HP:0001763	Pes planus	6197	RPS6KA3	ORPHA:192
HP:0001763	Pes planus	7345	UCHL1	OMIM:615491
HP:0001763	Pes planus	284058	KANSL1	ORPHA:363958
HP:0001763	Pes planus	284058	KANSL1	ORPHA:363965
HP:0001763	Pes planus	54453	RIN2	OMIM:613075
HP:0001763	Pes planus	54453	RIN2	ORPHA:217335
HP:0001763	Pes planus	3899	AFF3	OMIM:619297
HP:0001763	Pes planus	84665	MYPN	ORPHA:171881
HP:0001763	Pes planus	7169	TPM2	ORPHA:171881
HP:0001763	Pes planus	7170	TPM3	ORPHA:171881
HP:0001763	Pes planus	80204	FBXO11	OMIM:618089
HP:0001763	Pes planus	9469	CHST3	OMIM:143095
HP:0001763	Pes planus	9469	CHST3	OMIM:245600
HP:0001763	Pes planus	23545	ATP6V0A2	ORPHA:2834
HP:0001763	Pes planus	23545	ATP6V0A2	OMIM:278250
HP:0001763	Pes planus	23545	ATP6V0A2	OMIM:219200
HP:0001763	Pes planus	9968	MED12	ORPHA:93932
HP:0001763	Pes planus	7436	VLDLR	OMIM:224050
HP:0001763	Pes planus	1801	DPH1	OMIM:616901
HP:0001763	Pes planus	1801	DPH1	ORPHA:459061
HP:0001763	Pes planus	1183	CLCN4	ORPHA:485350
HP:0001763	Pes planus	7840	ALMS1	OMIM:203800
HP:0001763	Pes planus	7840	ALMS1	ORPHA:64
HP:0001763	Pes planus	672	BRCA1	ORPHA:84
HP:0001763	Pes planus	10459	MAD2L2	ORPHA:84
HP:0001763	Pes planus	7516	XRCC2	ORPHA:84
HP:0001763	Pes planus	29089	UBE2T	ORPHA:84
HP:0001763	Pes planus	675	BRCA2	ORPHA:84
HP:0001763	Pes planus	55120	FANCL	ORPHA:84
HP:0001763	Pes planus	2177	FANCD2	ORPHA:84
HP:0001763	Pes planus	2175	FANCA	ORPHA:84
HP:0001763	Pes planus	2187	FANCB	ORPHA:84
HP:0001763	Pes planus	2176	FANCC	ORPHA:84
HP:0001763	Pes planus	2178	FANCE	ORPHA:84
HP:0001763	Pes planus	2188	FANCF	ORPHA:84
HP:0001763	Pes planus	2189	FANCG	ORPHA:84
HP:0001763	Pes planus	5888	RAD51	ORPHA:84
HP:0001763	Pes planus	5889	RAD51C	ORPHA:84
HP:0001763	Pes planus	55159	RFWD3	ORPHA:84
HP:0001763	Pes planus	83990	BRIP1	ORPHA:84
HP:0001763	Pes planus	57697	FANCM	ORPHA:84
HP:0001763	Pes planus	79728	PALB2	ORPHA:84
HP:0001763	Pes planus	84464	SLX4	ORPHA:84
HP:0001763	Pes planus	2072	ERCC4	ORPHA:84
HP:0001763	Pes planus	55215	FANCI	ORPHA:84
HP:0001763	Pes planus	157680	VPS13B	OMIM:216550
HP:0001763	Pes planus	2626	GATA4	ORPHA:251071
HP:0001763	Pes planus	1277	COL1A1	ORPHA:287
HP:0001763	Pes planus	1277	COL1A1	OMIM:130060
HP:0001763	Pes planus	1289	COL5A1	ORPHA:287
HP:0001763	Pes planus	1289	COL5A1	OMIM:619329
HP:0001763	Pes planus	1289	COL5A1	OMIM:130000
HP:0001763	Pes planus	1290	COL5A2	ORPHA:287
HP:0001763	Pes planus	9839	ZEB2	ORPHA:261552
HP:0001763	Pes planus	9839	ZEB2	ORPHA:261537
HP:0001763	Pes planus	10484	SEC23A	OMIM:607812
HP:0001763	Pes planus	10484	SEC23A	ORPHA:50814
HP:0001763	Pes planus	23203	PMPCA	ORPHA:1170
HP:0001763	Pes planus	1311	COMP	OMIM:132400
HP:0001763	Pes planus	6999	TDO2	OMIM:600627
HP:0001763	Pes planus	54872	PIGG	ORPHA:488635
HP:0001763	Pes planus	3340	NDST1	OMIM:616116
HP:0001763	Pes planus	200734	SPRED2	OMIM:619745
HP:0001763	Pes planus	124512	METTL23	OMIM:615942
HP:0001763	Pes planus	64132	XYLT2	ORPHA:85194
HP:0001763	Pes planus	64132	XYLT2	OMIM:605822
HP:0001763	Pes planus	526	ATP6V1B2	ORPHA:3473
HP:0001763	Pes planus	526	ATP6V1B2	ORPHA:79499
HP:0001763	Pes planus	3756	KCNH1	ORPHA:3473
HP:0001763	Pes planus	3782	KCNN3	ORPHA:3473
HP:0001763	Pes planus	175	AGA	ORPHA:93
HP:0001763	Pes planus	4247	MGAT2	OMIM:212066
HP:0001763	Pes planus	2200	FBN1	OMIM:616914
HP:0001763	Pes planus	2200	FBN1	ORPHA:2462
HP:0001763	Pes planus	2200	FBN1	OMIM:154700
HP:0001763	Pes planus	2200	FBN1	ORPHA:91387
HP:0001763	Pes planus	165	AEBP1	ORPHA:536532
HP:0001763	Pes planus	165	AEBP1	OMIM:618000
HP:0001763	Pes planus	6335	SCN9A	ORPHA:36387
HP:0001763	Pes planus	6335	SCN9A	ORPHA:33069
HP:0001763	Pes planus	112755	STX1B	ORPHA:36387
HP:0001763	Pes planus	2563	GABRD	ORPHA:36387
HP:0001763	Pes planus	6326	SCN2A	ORPHA:36387
HP:0001763	Pes planus	6326	SCN2A	ORPHA:33069
HP:0001763	Pes planus	6323	SCN1A	ORPHA:36387
HP:0001763	Pes planus	6323	SCN1A	ORPHA:33069
HP:0001763	Pes planus	6324	SCN1B	ORPHA:36387
HP:0001763	Pes planus	6324	SCN1B	ORPHA:33069
HP:0001763	Pes planus	348980	HCN1	ORPHA:36387
HP:0001763	Pes planus	84059	ADGRV1	ORPHA:36387
HP:0001763	Pes planus	2566	GABRG2	ORPHA:36387
HP:0001763	Pes planus	2566	GABRG2	ORPHA:33069
HP:0001763	Pes planus	59341	TRPV4	OMIM:600175
HP:0001763	Pes planus	6261	RYR1	ORPHA:597
HP:0001763	Pes planus	6261	RYR1	OMIM:117000
HP:0001763	Pes planus	11285	B4GALT7	OMIM:130070
HP:0001763	Pes planus	11285	B4GALT7	ORPHA:75496
HP:0001763	Pes planus	51114	ZDHHC9	OMIM:300799
HP:0001763	Pes planus	1280	COL2A1	OMIM:184250
HP:0001763	Pes planus	55621	TRMT1	OMIM:618302
HP:0001763	Pes planus	85301	COL27A1	OMIM:615155
HP:0001763	Pes planus	10717	AP4B1	OMIM:614066
HP:0001763	Pes planus	10717	AP4B1	ORPHA:280763
HP:0001763	Pes planus	55773	TBC1D23	OMIM:617695
HP:0001763	Pes planus	57680	CHD8	OMIM:615032
HP:0001763	Pes planus	8558	CDK10	OMIM:617694
HP:0001763	Pes planus	5593	PRKG2	OMIM:619638
HP:0001763	Pes planus	55699	IARS2	OMIM:616007
HP:0001763	Pes planus	8363	H4C11	OMIM:619759
HP:0001763	Pes planus	2332	FMR1	ORPHA:908
HP:0001763	Pes planus	2332	FMR1	ORPHA:449291
HP:0001763	Pes planus	2332	FMR1	OMIM:300624
HP:0001763	Pes planus	57863	CADM3	OMIM:619519
HP:0001763	Pes planus	6660	SOX5	OMIM:616803
HP:0001763	Pes planus	8239	USP9X	ORPHA:480880
HP:0001763	Pes planus	6804	STX1A	ORPHA:904
HP:0001763	Pes planus	7461	CLIP2	ORPHA:904
HP:0001763	Pes planus	84277	DNAJC30	ORPHA:904
HP:0001763	Pes planus	8468	FKBP6	ORPHA:904
HP:0001763	Pes planus	5982	RFC2	ORPHA:904
HP:0001763	Pes planus	2969	GTF2I	ORPHA:904
HP:0001763	Pes planus	3984	LIMK1	ORPHA:904
HP:0001763	Pes planus	9569	GTF2IRD1	ORPHA:904
HP:0001763	Pes planus	155382	VPS37D	ORPHA:904
HP:0001763	Pes planus	155368	METTL27	ORPHA:904
HP:0001763	Pes planus	114049	BUD23	ORPHA:904
HP:0001763	Pes planus	7458	EIF4H	ORPHA:904
HP:0001763	Pes planus	84163	GTF2IRD2	ORPHA:904
HP:0001763	Pes planus	9275	BCL7B	ORPHA:904
HP:0001763	Pes planus	26608	TBL2	ORPHA:904
HP:0001763	Pes planus	653361	NCF1	ORPHA:904
HP:0001763	Pes planus	135886	TMEM270	ORPHA:904
HP:0001763	Pes planus	51085	MLXIPL	ORPHA:904
HP:0001763	Pes planus	9031	BAZ1B	ORPHA:904
HP:0001763	Pes planus	2006	ELN	ORPHA:904
HP:0001763	Pes planus	2006	ELN	ORPHA:90348
HP:0001763	Pes planus	2006	ELN	ORPHA:91387
HP:0001763	Pes planus	3098	HK1	OMIM:618547
HP:0001763	Pes planus	54499	TMCO1	OMIM:213980
HP:0001763	Pes planus	23137	SMC5	OMIM:620185
HP:0001763	Pes planus	55027	HEATR3	OMIM:620072
HP:0001763	Pes planus	1303	COL12A1	ORPHA:536516
HP:0001763	Pes planus	51611	DPH5	OMIM:620070
HP:0001763	Pes planus	6305	SBF1	OMIM:615284
HP:0001763	Pes planus	1742	DLG4	OMIM:618793
HP:0001763	Pes planus	4849	CNOT3	OMIM:618672
HP:0001763	Pes planus	81887	LAS1L	ORPHA:3459
HP:0001763	Pes planus	81887	LAS1L	OMIM:309585
HP:0001763	Pes planus	55869	HDAC8	ORPHA:3459
HP:0001763	Pes planus	9158	FIBP	OMIM:617107
HP:0001763	Pes planus	400916	CHCHD10	OMIM:615048
HP:0001763	Pes planus	200424	TET3	OMIM:618798
HP:0001763	Pes planus	2542	SLC37A4	OMIM:619525
HP:0001763	Pes planus	6925	TCF4	OMIM:610954
HP:0001763	Pes planus	6925	TCF4	ORPHA:2896
HP:0001763	Pes planus	124583	CANT1	OMIM:251450
HP:0001763	Pes planus	11107	PRDM5	ORPHA:90354
HP:0001763	Pes planus	84627	ZNF469	ORPHA:90354
HP:0001763	Pes planus	5373	PMM2	ORPHA:79318
HP:0001763	Pes planus	23299	BICD2	OMIM:615290
HP:0001763	Pes planus	11117	EMILIN1	OMIM:620080
HP:0001763	Pes planus	7030	TFE3	OMIM:301066
HP:0001763	Pes planus	8200	GDF5	OMIM:615298
HP:0001763	Pes planus	254065	BRWD3	OMIM:300659
HP:0001763	Pes planus	546	ATRX	OMIM:309580
HP:0001763	Pes planus	57479	PRR12	OMIM:619539
HP:0001763	Pes planus	7994	KAT6A	OMIM:616268
HP:0001763	Pes planus	10516	FBLN5	ORPHA:90348
HP:0001763	Pes planus	5832	ALDH18A1	ORPHA:90348
HP:0001763	Pes planus	4088	SMAD3	OMIM:613795
HP:0001763	Pes planus	4088	SMAD3	ORPHA:284984
HP:0001763	Pes planus	4088	SMAD3	ORPHA:91387
HP:0001763	Pes planus	4087	SMAD2	OMIM:619656
HP:0001763	Pes planus	4087	SMAD2	ORPHA:91387
HP:0001763	Pes planus	7048	TGFBR2	OMIM:610168
HP:0001763	Pes planus	7048	TGFBR2	ORPHA:60030
HP:0001763	Pes planus	7048	TGFBR2	ORPHA:91387
HP:0001763	Pes planus	9496	TBX4	OMIM:147891
HP:0001763	Pes planus	9496	TBX4	ORPHA:261279
HP:0001763	Pes planus	81846	SBF2	ORPHA:99956
HP:0001763	Pes planus	51322	WAC	ORPHA:466950
HP:0001763	Pes planus	3339	HSPG2	OMIM:255800
HP:0001763	Pes planus	3339	HSPG2	ORPHA:800
HP:0001763	Pes planus	2317	FLNB	OMIM:272460
HP:0001763	Pes planus	387733	IFITM5	OMIM:610967
HP:0001763	Pes planus	4313	MMP2	OMIM:259600
HP:0001763	Pes planus	6567	SLC16A2	ORPHA:59
HP:0001763	Pes planus	6567	SLC16A2	OMIM:300523
HP:0001763	Pes planus	3897	L1CAM	OMIM:304100
HP:0001763	Pes planus	4883	NPR3	OMIM:619543
HP:0001763	Pes planus	54344	DPM3	ORPHA:263494
HP:0001763	Pes planus	26580	BSCL2	ORPHA:100998
HP:0001763	Pes planus	91252	SLC39A13	OMIM:612350
HP:0001763	Pes planus	2702	GJA5	OMIM:612474
HP:0001763	Pes planus	2703	GJA8	OMIM:612474
HP:0001763	Pes planus	7046	TGFBR1	ORPHA:60030
HP:0001763	Pes planus	7046	TGFBR1	ORPHA:91387
HP:0001763	Pes planus	10526	IPO8	ORPHA:60030
HP:0001763	Pes planus	10526	IPO8	OMIM:619472
HP:0001763	Pes planus	2316	FLNA	OMIM:309350
HP:0001763	Pes planus	2316	FLNA	ORPHA:555877
HP:0001763	Pes planus	170302	ARX	OMIM:300419
HP:0001763	Pes planus	22907	DHX30	OMIM:617804
HP:0001763	Pes planus	7227	TRPS1	OMIM:190350
HP:0001763	Pes planus	79628	SH3TC2	ORPHA:99949
HP:0001763	Pes planus	2245	FGD1	ORPHA:915
HP:0001763	Pes planus	2245	FGD1	OMIM:305400
HP:0001763	Pes planus	6497	SKI	ORPHA:2462
HP:0001763	Pes planus	6497	SKI	OMIM:182212
HP:0001763	Pes planus	5376	PMP22	OMIM:145900
HP:0001763	Pes planus	1959	EGR2	OMIM:145900
HP:0001763	Pes planus	57716	PRX	OMIM:145900
HP:0001763	Pes planus	3720	JARID2	OMIM:620098
HP:0001763	Pes planus	2260	FGFR1	ORPHA:478
HP:0001763	Pes planus	10371	SEMA3A	ORPHA:478
HP:0001763	Pes planus	81848	SPRY4	ORPHA:478
HP:0001763	Pes planus	23767	FLRT3	ORPHA:478
HP:0001763	Pes planus	79625	NDNF	ORPHA:478
HP:0001763	Pes planus	2253	FGF8	ORPHA:478
HP:0001763	Pes planus	389549	FEZF1	ORPHA:478
HP:0001763	Pes planus	1630	DCC	ORPHA:478
HP:0001763	Pes planus	3730	ANOS1	ORPHA:478
HP:0001763	Pes planus	54756	IL17RD	ORPHA:478
HP:0001763	Pes planus	6663	SOX10	ORPHA:478
HP:0001763	Pes planus	285025	CCDC141	ORPHA:478
HP:0001763	Pes planus	60675	PROK2	ORPHA:478
HP:0001763	Pes planus	55636	CHD7	ORPHA:478
HP:0001763	Pes planus	1848	DUSP6	ORPHA:478
HP:0001763	Pes planus	6870	TACR3	ORPHA:478
HP:0001763	Pes planus	55717	WDR11	ORPHA:478
HP:0001763	Pes planus	9394	HS6ST1	ORPHA:478
HP:0001763	Pes planus	8820	HESX1	ORPHA:478
HP:0001763	Pes planus	8822	FGF17	ORPHA:478
HP:0001763	Pes planus	865	CBFB	OMIM:620099
HP:0001763	Pes planus	9949	AMMECR1	OMIM:300990
HP:0001763	Pes planus	22827	PUF60	ORPHA:508498
HP:0001763	Pes planus	22827	PUF60	ORPHA:508488
HP:0001763	Pes planus	57190	SELENON	ORPHA:324604
HP:0001763	Pes planus	4625	MYH7	ORPHA:324604
HP:0001763	Pes planus	4625	MYH7	ORPHA:437572
HP:0001763	Pes planus	7273	TTN	ORPHA:324604
HP:0001763	Pes planus	8925	HERC1	OMIM:617011
HP:0001763	Pes planus	8925	HERC1	ORPHA:457359
HP:0001763	Pes planus	23013	SPEN	OMIM:619312
HP:0001763	Pes planus	1075	CTSC	OMIM:245010
HP:0001763	Pes planus	5351	PLOD1	OMIM:225400
HP:0001763	Pes planus	5351	PLOD1	ORPHA:1900
HP:0001763	Pes planus	127833	SYT2	OMIM:616040
HP:0001763	Pes planus	2290	FOXG1	OMIM:613454
HP:0001763	Pes planus	23394	ADNP	OMIM:615873
HP:0001763	Pes planus	79912	PYROXD1	OMIM:617258
HP:0001763	Pes planus	10586	MAB21L2	OMIM:615877
HP:0001763	Pes planus	57167	SALL4	OMIM:607323
HP:0001763	Pes planus	55315	SLC29A3	OMIM:602782
HP:0001763	Pes planus	55315	SLC29A3	ORPHA:168569
HP:0001763	Pes planus	7707	ZNF148	OMIM:617260
HP:0001763	Pes planus	60482	SLC5A7	OMIM:617143
HP:0001763	Pes planus	63895	PIEZO2	OMIM:617146
HP:0001763	Pes planus	2782	GNB1	OMIM:616973
HP:0001763	Pes planus	5831	PYCR1	OMIM:614438
HP:0001763	Pes planus	5831	PYCR1	ORPHA:2078
HP:0001763	Pes planus	3097	HIVEP2	OMIM:616977
HP:0001763	Pes planus	137682	NDUFAF6	OMIM:618239
HP:0001763	Pes planus	5010	CLDN11	OMIM:619328
HP:0001763	Pes planus	10982	MAPRE2	OMIM:616734
HP:0001763	Pes planus	55033	FKBP14	OMIM:614557
HP:0001763	Pes planus	55033	FKBP14	ORPHA:300179
HP:0001763	Pes planus	6301	SARS1	OMIM:617709
HP:0001763	Pes planus	5190	PEX6	OMIM:616617
HP:0001763	Pes planus	4297	KMT2A	OMIM:605130
HP:0001763	Pes planus	54808	DYM	OMIM:223800
HP:0001763	Pes planus	84679	SLC9A7	OMIM:301024
HP:0001763	Pes planus	10735	STAG2	OMIM:301022
HP:0001763	Pes planus	57551	TAOK1	OMIM:619575
HP:0001763	Pes planus	51132	RLIM	OMIM:300978
HP:0001763	Pes planus	84068	SLC10A7	OMIM:618363
HP:0001763	Pes planus	64131	XYLT1	OMIM:615777
HP:0001763	Pes planus	64131	XYLT1	ORPHA:370930
HP:0001763	Pes planus	9820	CUL7	OMIM:273750
HP:0001763	Pes planus	444	ASPH	OMIM:601552
HP:0001763	Pes planus	7319	UBE2A	OMIM:300860
HP:0001763	Pes planus	191	AHCY	ORPHA:88618
HP:0001763	Pes planus	633	BGN	OMIM:300989
HP:0001763	Pes planus	164	AP1G1	OMIM:619467
HP:0001763	Pes planus	2906	GRIN2D	OMIM:617162
HP:0001763	Pes planus	3188	HNRNPH2	OMIM:300986
HP:0001763	Pes planus	25	ABL1	OMIM:617602
HP:0001763	Pes planus	5144	PDE4D	ORPHA:439822
HP:0001763	Pes planus	545	ATR	OMIM:210600
HP:0001763	Pes planus	2475	MTOR	ORPHA:457485
HP:0001763	Pes planus	23152	CIC	OMIM:617600
HP:0001763	Pes planus	6638	SNRPN	ORPHA:177907
HP:0001763	Pes planus	9244	CRLF1	OMIM:272430
HP:0001763	Pes planus	4000	LMNA	ORPHA:79474
HP:0001763	Pes planus	2313	FLI1	ORPHA:2308
HP:0001763	Pes planus	1756	DMD	ORPHA:98895
HP:0001763	Pes planus	79718	TBL1XR1	ORPHA:487825
HP:0001763	Pes planus	8812	CCNK	OMIM:618147
HP:0001763	Pes planus	2892	GRIA3	ORPHA:364028
HP:0001763	Pes planus	1387	CREBBP	OMIM:180849
HP:0001763	Pes planus	2033	EP300	OMIM:180849
HP:0001763	Pes planus	80036	TRPM3	OMIM:620224
HP:0001763	Pes planus	2554	GABRA1	ORPHA:33069
HP:0001763	Pes planus	57526	PCDH19	ORPHA:33069
HP:0001763	Pes planus	4796	TONSL	ORPHA:93357
HP:0001763	Pes planus	7040	TGFB1	ORPHA:1328
HP:0001763	Pes planus	8936	WASF1	OMIM:618707
HP:0001763	Pes planus	10283	CWC27	ORPHA:166035
HP:0001763	Pes planus	4841	NONO	OMIM:300967
HP:0001763	Pes planus	4841	NONO	ORPHA:466791
HP:0001763	Pes planus	7204	TRIO	ORPHA:476126
HP:0001763	Pes planus	23233	EXOC6B	OMIM:618395
HP:0001763	Pes planus	10220	GDF11	OMIM:619122
HP:0001763	Pes planus	6299	SALL1	ORPHA:857
HP:0001763	Pes planus	51339	DACT1	ORPHA:857
HP:0001763	Pes planus	22995	CEP152	OMIM:613823
HP:0001763	Pes planus	113246	C12orf57	OMIM:218340
HP:0001763	Pes planus	126792	B3GALT6	OMIM:271640
HP:0001763	Pes planus	2617	GARS1	OMIM:600794
HP:0001763	Pes planus	9179	AP4M1	ORPHA:280763
HP:0001763	Pes planus	11154	AP4S1	ORPHA:280763
HP:0001763	Pes planus	23431	AP4E1	ORPHA:280763
HP:0001763	Pes planus	11014	KDELR2	OMIM:619131
HP:0001763	Pes planus	1315	COPB1	OMIM:619255
HP:0001763	Pes planus	1984	EIF5A	OMIM:619376
HP:0001763	Pes planus	89970	RSPRY1	ORPHA:457395
HP:0001763	Pes planus	2186	BPTF	OMIM:617755
HP:0001763	Pes planus	92344	GORAB	ORPHA:2078
HP:0001763	Pes planus	1073	CFL2	OMIM:610687
HP:0001763	Pes planus	9997	SCO2	ORPHA:521411
HP:0001763	Pes planus	8139	GAN	OMIM:256850
HP:0001763	Pes planus	23133	PHF8	OMIM:300263
HP:0001763	Pes planus	11011	TLK2	OMIM:618050
HP:0001763	Pes planus	26229	B3GAT3	OMIM:245600
HP:0001763	Pes planus	8665	EIF3F	OMIM:618295
HP:0001763	Pes planus	83452	RAB33B	OMIM:615222
HP:0001763	Pes planus	7043	TGFB3	OMIM:615582
HP:0001763	Pes planus	7043	TGFB3	ORPHA:91387
HP:0001763	Pes planus	529	ATP6V1E1	OMIM:617402
HP:0001763	Pes planus	7042	TGFB2	OMIM:614816
HP:0001763	Pes planus	7042	TGFB2	ORPHA:91387
HP:0001763	Pes planus	4629	MYH11	ORPHA:91387
HP:0001763	Pes planus	4015	LOX	ORPHA:91387
HP:0001763	Pes planus	4089	SMAD4	ORPHA:91387
HP:0001763	Pes planus	59	ACTA2	ORPHA:91387
HP:0001763	Pes planus	5592	PRKG1	ORPHA:91387
HP:0001763	Pes planus	2301	FOXE3	ORPHA:91387
HP:0001763	Pes planus	4144	MAT2A	ORPHA:91387
HP:0001763	Pes planus	23493	HEY2	ORPHA:91387
HP:0001763	Pes planus	8076	MFAP5	ORPHA:91387
HP:0001763	Pes planus	4638	MYLK	ORPHA:91387
HP:0001763	Pes planus	1836	SLC26A2	ORPHA:93307
HP:0001763	Pes planus	10397	NDRG1	ORPHA:99950
HP:0001763	Pes planus	773	CACNA1A	ORPHA:2131
HP:0001763	Pes planus	6507	SLC1A3	ORPHA:2131
HP:0001763	Pes planus	477	ATP1A2	ORPHA:2131
HP:0001763	Pes planus	478	ATP1A3	ORPHA:2131
HP:0001765	Hammertoe	23111	SPART	OMIM:275900
HP:0001765	Hammertoe	65260	COA7	OMIM:618387
HP:0001765	Hammertoe	5376	PMP22	OMIM:118300
HP:0001765	Hammertoe	5376	PMP22	OMIM:118220
HP:0001765	Hammertoe	5376	PMP22	OMIM:180800
HP:0001765	Hammertoe	5376	PMP22	ORPHA:90658
HP:0001765	Hammertoe	5376	PMP22	OMIM:145900
HP:0001765	Hammertoe	127833	SYT2	OMIM:616040
HP:0001765	Hammertoe	112	ADCY6	OMIM:616287
HP:0001765	Hammertoe	7415	VCP	ORPHA:435387
HP:0001765	Hammertoe	7415	VCP	OMIM:616687
HP:0001765	Hammertoe	59341	TRPV4	OMIM:606071
HP:0001765	Hammertoe	1861	TOR1A	OMIM:618947
HP:0001765	Hammertoe	9927	MFN2	OMIM:609260
HP:0001765	Hammertoe	50717	DCAF8	OMIM:610100
HP:0001765	Hammertoe	4897	NRCAM	OMIM:619833
HP:0001765	Hammertoe	2617	GARS1	ORPHA:139536
HP:0001765	Hammertoe	2617	GARS1	OMIM:600794
HP:0001765	Hammertoe	2617	GARS1	OMIM:601472
HP:0001765	Hammertoe	26580	BSCL2	ORPHA:139536
HP:0001765	Hammertoe	65055	REEP1	ORPHA:139536
HP:0001765	Hammertoe	4747	NEFL	OMIM:607684
HP:0001765	Hammertoe	4359	MPZ	OMIM:180800
HP:0001765	Hammertoe	4359	MPZ	OMIM:118200
HP:0001765	Hammertoe	4359	MPZ	OMIM:145900
HP:0001765	Hammertoe	7879	RAB7A	OMIM:600882
HP:0001765	Hammertoe	10397	NDRG1	OMIM:601455
HP:0001765	Hammertoe	10397	NDRG1	ORPHA:99950
HP:0001765	Hammertoe	54880	BCOR	OMIM:300166
HP:0001765	Hammertoe	54880	BCOR	ORPHA:2712
HP:0001765	Hammertoe	5375	PMP2	OMIM:618279
HP:0001765	Hammertoe	23095	KIF1B	OMIM:118210
HP:0001765	Hammertoe	8566	PDXK	OMIM:618511
HP:0001765	Hammertoe	400916	CHCHD10	OMIM:615048
HP:0001765	Hammertoe	3035	HARS1	ORPHA:488333
HP:0001765	Hammertoe	3035	HARS1	OMIM:616625
HP:0001765	Hammertoe	90678	LRSAM1	OMIM:614436
HP:0001765	Hammertoe	11261	CHP1	OMIM:618438
HP:0001765	Hammertoe	3710	ITPR3	OMIM:620111
HP:0001765	Hammertoe	81846	SBF2	OMIM:604563
HP:0001765	Hammertoe	26278	SACS	OMIM:270550
HP:0001765	Hammertoe	4626	MYH8	OMIM:158300
HP:0001765	Hammertoe	10280	SIGMAR1	OMIM:605726
HP:0001765	Hammertoe	5264	PHYH	ORPHA:773
HP:0001765	Hammertoe	5191	PEX7	ORPHA:773
HP:0001765	Hammertoe	22880	MORC2	OMIM:619090
HP:0001765	Hammertoe	4358	MPV17	OMIM:618400
HP:0001765	Hammertoe	2200	FBN1	OMIM:154700
HP:0001765	Hammertoe	57449	PLEKHG5	OMIM:615376
HP:0001765	Hammertoe	165	AEBP1	OMIM:618000
HP:0001765	Hammertoe	165	AEBP1	ORPHA:536532
HP:0001765	Hammertoe	7994	KAT6A	OMIM:616268
HP:0001765	Hammertoe	3295	HSD17B4	OMIM:261515
HP:0001765	Hammertoe	157570	ESCO2	ORPHA:2319
HP:0001765	Hammertoe	79628	SH3TC2	OMIM:601596
HP:0001765	Hammertoe	79628	SH3TC2	ORPHA:99949
HP:0001765	Hammertoe	1717	DHCR7	OMIM:270400
HP:0001765	Hammertoe	59345	GNB4	OMIM:615185
HP:0001765	Hammertoe	64423	INF2	OMIM:614455
HP:0001765	Hammertoe	16	AARS1	OMIM:613287
HP:0001765	Hammertoe	54332	GDAP1	ORPHA:99948
HP:0001765	Hammertoe	54332	GDAP1	OMIM:214400
HP:0001765	Hammertoe	54332	GDAP1	OMIM:608340
HP:0001765	Hammertoe	4000	LMNA	ORPHA:98856
HP:0001765	Hammertoe	1959	EGR2	OMIM:145900
HP:0001765	Hammertoe	57716	PRX	OMIM:145900
HP:0001765	Hammertoe	23443	SLC35A3	ORPHA:370943
HP:0001765	Hammertoe	168667	BMPER	OMIM:608022
HP:0001765	Hammertoe	8729	GBF1	OMIM:606483
HP:0001840	Metatarsus adductus	3981	LIG4	ORPHA:235
HP:0001840	Metatarsus adductus	54888	NSUN2	ORPHA:235
HP:0001840	Metatarsus adductus	4921	DDR2	OMIM:271665
HP:0001840	Metatarsus adductus	9158	FIBP	ORPHA:500095
HP:0001840	Metatarsus adductus	5828	PEX2	OMIM:614866
HP:0001840	Metatarsus adductus	7355	SLC35A2	ORPHA:356961
HP:0001840	Metatarsus adductus	5830	PEX5	OMIM:214110
HP:0001840	Metatarsus adductus	2990	GUSB	ORPHA:584
HP:0001840	Metatarsus adductus	2990	GUSB	OMIM:253220
HP:0001840	Metatarsus adductus	1836	SLC26A2	ORPHA:56304
HP:0001840	Metatarsus adductus	26137	ZBTB20	OMIM:259050
HP:0001840	Metatarsus adductus	80232	WDR26	ORPHA:513456
HP:0001840	Metatarsus adductus	1718	DHCR24	ORPHA:35107
HP:0001840	Metatarsus adductus	285590	SH3PXD2B	OMIM:249420
HP:0001840	Metatarsus adductus	51715	RAB23	OMIM:201000
HP:0001840	Metatarsus adductus	5594	MAPK1	OMIM:619087
HP:0001840	Metatarsus adductus	89910	UBE3B	OMIM:244450
HP:0001840	Metatarsus adductus	2201	FBN2	OMIM:121050
HP:0001840	Metatarsus adductus	7140	TNNT3	OMIM:618435
HP:0001840	Metatarsus adductus	6662	SOX9	OMIM:114290
HP:0001840	Metatarsus adductus	25782	RAB3GAP2	OMIM:212720
HP:0001840	Metatarsus adductus	388015	RTL1	ORPHA:96334
HP:0001840	Metatarsus adductus	8788	DLK1	ORPHA:96334
HP:0001840	Metatarsus adductus	55384	MEG3	ORPHA:96334
HP:0001840	Metatarsus adductus	5189	PEX1	OMIM:214100
HP:0001840	Metatarsus adductus	126792	B3GALT6	OMIM:271640
HP:0001840	Metatarsus adductus	4626	MYH8	OMIM:158300
HP:0001840	Metatarsus adductus	6497	SKI	OMIM:182212
HP:0001840	Metatarsus adductus	2200	FBN1	OMIM:154700
HP:0001840	Metatarsus adductus	259232	NALCN	OMIM:616266
HP:0001840	Metatarsus adductus	10381	TUBB3	ORPHA:300570
HP:0001840	Metatarsus adductus	2146	EZH2	OMIM:277590
HP:0001840	Metatarsus adductus	7136	TNNI2	OMIM:601680
HP:0001840	Metatarsus adductus	1717	DHCR7	OMIM:270400
HP:0001840	Metatarsus adductus	9469	CHST3	OMIM:245600
HP:0001840	Metatarsus adductus	26229	B3GAT3	OMIM:245600
HP:0001840	Metatarsus adductus	84823	LMNB2	OMIM:619180
HP:0001840	Metatarsus adductus	9896	FIG4	ORPHA:3472
HP:0001840	Metatarsus adductus	55697	VAC14	ORPHA:3472
HP:0001840	Metatarsus adductus	4233	MET	OMIM:620019
HP:0001840	Metatarsus adductus	63895	PIEZO2	ORPHA:2461
HP:0001840	Metatarsus adductus	53834	FGFRL1	OMIM:194190
HP:0001840	Metatarsus adductus	1487	CTBP1	OMIM:194190
HP:0001840	Metatarsus adductus	3954	LETM1	OMIM:194190
HP:0001840	Metatarsus adductus	7468	NSD2	OMIM:194190
HP:0001840	Metatarsus adductus	10815	CPLX1	OMIM:194190
HP:0001840	Metatarsus adductus	59341	TRPV4	OMIM:181405
HP:0001840	Metatarsus adductus	2737	GLI3	ORPHA:93322
HP:0001769	Broad foot	54808	DYM	OMIM:223800
HP:0001769	Broad foot	114548	NLRP3	ORPHA:575
HP:0001769	Broad foot	2245	FGD1	OMIM:305400
HP:0001769	Broad foot	2245	FGD1	ORPHA:915
HP:0001769	Broad foot	9131	AIFM1	OMIM:300232
HP:0001769	Broad foot	2239	GPC4	ORPHA:373
HP:0001769	Broad foot	2239	GPC4	OMIM:312870
HP:0001769	Broad foot	2719	GPC3	ORPHA:373
HP:0001769	Broad foot	2719	GPC3	OMIM:312870
HP:0001769	Broad foot	6134	RPL10	OMIM:300998
HP:0001769	Broad foot	5447	POR	OMIM:201750
HP:0001769	Broad foot	23126	POGZ	OMIM:616364
HP:0001769	Broad foot	145173	B3GLCT	OMIM:261540
HP:0001769	Broad foot	392255	GDF6	OMIM:617898
HP:0001769	Broad foot	5648	MASP1	OMIM:257920
HP:0001769	Broad foot	1778	DYNC1H1	OMIM:614563
HP:0001769	Broad foot	2260	FGFR1	OMIM:166250
HP:0001769	Broad foot	64131	XYLT1	OMIM:615777
HP:0001769	Broad foot	84100	ARL6	OMIM:209900
HP:0001769	Broad foot	79140	CCDC28B	OMIM:209900
HP:0001769	Broad foot	582	BBS1	OMIM:209900
HP:0001769	Broad foot	4796	TONSL	ORPHA:93357
HP:0001769	Broad foot	84295	PHF6	ORPHA:127
HP:0001769	Broad foot	83550	GPR101	ORPHA:963
HP:0001769	Broad foot	9049	AIP	ORPHA:963
HP:0001769	Broad foot	658	BMPR1B	OMIM:609441
HP:0001769	Broad foot	64324	NSD1	ORPHA:3447
HP:0001769	Broad foot	8726	EED	ORPHA:3447
HP:0001769	Broad foot	23512	SUZ12	ORPHA:3447
HP:0001769	Broad foot	2146	EZH2	ORPHA:3447
HP:0001769	Broad foot	64327	LMBR1	OMIM:135750
HP:0001769	Broad foot	5745	PTH1R	ORPHA:79106
HP:0001769	Broad foot	79718	TBL1XR1	OMIM:602342
HP:0001769	Broad foot	10943	MSL3	OMIM:301032
HP:0001769	Broad foot	9578	CDC42BPB	OMIM:619841
HP:0001769	Broad foot	5144	PDE4D	ORPHA:439822
HP:0001769	Broad foot	1836	SLC26A2	ORPHA:93307
HP:0011986	Ectopic ossification	4907	NT5E	OMIM:211800
HP:0011986	Ectopic ossification	3930	LBR	OMIM:215140
HP:0011986	Ectopic ossification	90	ACVR1	OMIM:135100
HP:0011986	Ectopic ossification	90	ACVR1	ORPHA:337
HP:0011986	Ectopic ossification	2778	GNAS	OMIM:103580
HP:0011987	Ectopic ossification in muscle tissue	90	ACVR1	OMIM:135100
HP:0011987	Ectopic ossification in muscle tissue	90	ACVR1	ORPHA:337
HP:0011987	Ectopic ossification in muscle tissue	2778	GNAS	OMIM:166350
HP:0011987	Ectopic ossification in muscle tissue	2778	GNAS	ORPHA:2762
HP:0011988	Ectopic ossification in tendon tissue	90	ACVR1	OMIM:135100
HP:0011989	Ectopic ossification in ligament tissue	90	ACVR1	OMIM:135100
HP:0011989	Ectopic ossification in ligament tissue	90	ACVR1	ORPHA:337
HP:0011985	Acholic stools	222546	RFX6	OMIM:615710
HP:0011985	Acholic stools	672	BRCA1	ORPHA:70567
HP:0011985	Acholic stools	675	BRCA2	ORPHA:70567
HP:0011985	Acholic stools	5774	PTPN3	ORPHA:70567
HP:0011985	Acholic stools	80270	HSD3B7	OMIM:607765
HP:0011985	Acholic stools	4645	MYO5B	OMIM:619868
HP:0011985	Acholic stools	9420	CYP7B1	OMIM:613812
HP:0011985	Acholic stools	51473	DCDC2	OMIM:617394
HP:0011980	Cholesterol gallstones	5244	ABCB4	OMIM:600803
HP:0011980	Cholesterol gallstones	1581	CYP7A1	ORPHA:209902
HP:0011981	Pigment gallstones	3043	HBB	ORPHA:232
HP:0011981	Pigment gallstones	2821	GPI	OMIM:613470
HP:0001772	Talipes equinovalgus	55593	OTUD5	OMIM:301056
HP:0001772	Talipes equinovalgus	157570	ESCO2	OMIM:268300
HP:0001772	Talipes equinovalgus	9469	CHST3	OMIM:245600
HP:0001772	Talipes equinovalgus	26229	B3GAT3	OMIM:245600
HP:0001772	Talipes equinovalgus	55210	ATAD3A	OMIM:617183
HP:0001772	Talipes equinovalgus	11285	B4GALT7	OMIM:130070
HP:0001772	Talipes equinovalgus	8200	GDF5	OMIM:228900
HP:0001772	Talipes equinovalgus	8200	GDF5	OMIM:113100
HP:0001772	Talipes equinovalgus	2317	FLNB	OMIM:150250
HP:0001772	Talipes equinovalgus	51651	PTRH2	ORPHA:456312
HP:0001772	Talipes equinovalgus	8218	CLTCL1	ORPHA:453510
HP:0001772	Talipes equinovalgus	4010	LMX1B	ORPHA:2614
HP:0001772	Talipes equinovalgus	7140	TNNT3	OMIM:618435
HP:0001772	Talipes equinovalgus	7920	ABHD16A	OMIM:619735
HP:0001775	Tarsal osteovalgus	2036	EPB41L1	OMIM:614257
HP:0001776	Bilateral talipes equinovarus	1718	DHCR24	OMIM:602398
HP:0001776	Bilateral talipes equinovarus	1281	COL3A1	OMIM:618343
HP:0001776	Bilateral talipes equinovarus	8200	GDF5	OMIM:615072
HP:0001776	Bilateral talipes equinovarus	1182	CLCN3	OMIM:619512
HP:0001776	Bilateral talipes equinovarus	84879	MFSD2A	OMIM:616486
HP:0001776	Bilateral talipes equinovarus	8506	CNTNAP1	OMIM:618186
HP:0001776	Bilateral talipes equinovarus	348180	CTU2	OMIM:618142
HP:0001776	Bilateral talipes equinovarus	340419	RSPO2	OMIM:618022
HP:0001776	Bilateral talipes equinovarus	92002	CCNQ	OMIM:300707
HP:0001776	Bilateral talipes equinovarus	23040	MYT1L	OMIM:616521
HP:0001776	Bilateral talipes equinovarus	23314	SATB2	ORPHA:251028
HP:0001776	Bilateral talipes equinovarus	80036	TRPM3	OMIM:620224
HP:0001776	Bilateral talipes equinovarus	23345	SYNE1	ORPHA:319332
HP:0001776	Bilateral talipes equinovarus	23345	SYNE1	OMIM:618484
HP:0001776	Bilateral talipes equinovarus	63895	PIEZO2	OMIM:108145
HP:0001776	Bilateral talipes equinovarus	63895	PIEZO2	ORPHA:1154
HP:0001776	Bilateral talipes equinovarus	126792	B3GALT6	OMIM:609465
HP:0001776	Bilateral talipes equinovarus	1836	SLC26A2	ORPHA:56304
HP:0001776	Bilateral talipes equinovarus	1836	SLC26A2	ORPHA:93307
HP:0001776	Bilateral talipes equinovarus	4125	MAN2B1	ORPHA:309282
HP:0001776	Bilateral talipes equinovarus	285590	SH3PXD2B	OMIM:249420
HP:0001776	Bilateral talipes equinovarus	6857	SYT1	ORPHA:522077
HP:0001776	Bilateral talipes equinovarus	5594	MAPK1	OMIM:619087
HP:0001776	Bilateral talipes equinovarus	10730	YME1L1	OMIM:617302
HP:0001776	Bilateral talipes equinovarus	6662	SOX9	OMIM:114290
HP:0001776	Bilateral talipes equinovarus	7291	TWIST1	OMIM:617746
HP:0001776	Bilateral talipes equinovarus	23169	SLC35D1	OMIM:269250
HP:0001776	Bilateral talipes equinovarus	7547	ZIC3	OMIM:306955
HP:0001776	Bilateral talipes equinovarus	342035	GLDN	OMIM:617194
HP:0001776	Bilateral talipes equinovarus	4123	MAN2C1	OMIM:619775
HP:0001776	Bilateral talipes equinovarus	55120	FANCL	OMIM:614083
HP:0001776	Bilateral talipes equinovarus	9487	PIGL	OMIM:280000
HP:0001776	Bilateral talipes equinovarus	7920	ABHD16A	OMIM:619735
HP:0001776	Bilateral talipes equinovarus	29940	DSE	OMIM:615539
HP:0001776	Bilateral talipes equinovarus	658	BMPR1B	OMIM:609441
HP:0001776	Bilateral talipes equinovarus	81839	VANGL1	OMIM:600145
HP:0001776	Bilateral talipes equinovarus	10682	EBP	OMIM:302960
HP:0001776	Bilateral talipes equinovarus	29968	PSAT1	ORPHA:284417
HP:0001776	Bilateral talipes equinovarus	5307	PITX1	OMIM:119800
HP:0001776	Bilateral talipes equinovarus	1496	CTNNA2	OMIM:618174
HP:0001776	Bilateral talipes equinovarus	8985	PLOD3	OMIM:612394
HP:0001776	Bilateral talipes equinovarus	2720	GLB1	OMIM:253010
HP:0001776	Bilateral talipes equinovarus	54332	GDAP1	ORPHA:99948
HP:0001776	Bilateral talipes equinovarus	58497	PRUNE1	ORPHA:544469
HP:0001776	Bilateral talipes equinovarus	55636	CHD7	OMIM:214800
HP:0001776	Bilateral talipes equinovarus	7319	UBE2A	ORPHA:163956
HP:0001776	Bilateral talipes equinovarus	6638	SNRPN	ORPHA:177907
HP:0001776	Bilateral talipes equinovarus	9230	RAB11B	OMIM:617807
HP:0001776	Bilateral talipes equinovarus	5297	PI4KA	OMIM:619708
HP:0001776	Bilateral talipes equinovarus	246329	STAC3	OMIM:255995
HP:0001776	Bilateral talipes equinovarus	8241	RBM10	OMIM:311900
HP:0001849	Foot oligodactyly	64840	PORCN	OMIM:305600
HP:0001849	Foot oligodactyly	7480	WNT10B	OMIM:225300
HP:0001849	Foot oligodactyly	10262	SF3B4	OMIM:154400
HP:0001849	Foot oligodactyly	7476	WNT7A	OMIM:228930
HP:0001849	Foot oligodactyly	7476	WNT7A	ORPHA:2879
HP:0001849	Foot oligodactyly	7476	WNT7A	OMIM:276820
HP:0001849	Foot oligodactyly	54567	DLL4	OMIM:616589
HP:0001849	Foot oligodactyly	64093	SMOC1	OMIM:206920
HP:0001849	Foot oligodactyly	64093	SMOC1	ORPHA:1106
HP:0001849	Foot oligodactyly	1749	DLX5	OMIM:183600
HP:0001849	Foot oligodactyly	4038	LRP4	ORPHA:3258
HP:0001849	Foot oligodactyly	324	APC	ORPHA:3258
HP:0001849	Foot oligodactyly	2737	GLI3	ORPHA:93322
HP:0008935	Generalized neonatal hypotonia	8802	SUCLG1	OMIM:245400
HP:0008935	Generalized neonatal hypotonia	25839	COG4	ORPHA:263501
HP:0008935	Generalized neonatal hypotonia	4524	MTHFR	ORPHA:395
HP:0008935	Generalized neonatal hypotonia	23394	ADNP	ORPHA:404448
HP:0008935	Generalized neonatal hypotonia	9896	FIG4	ORPHA:3472
HP:0008935	Generalized neonatal hypotonia	55697	VAC14	ORPHA:3472
HP:0008935	Generalized neonatal hypotonia	1917	EEF1A2	OMIM:616393
HP:0008935	Generalized neonatal hypotonia	5718	PSMD12	ORPHA:529962
HP:0008935	Generalized neonatal hypotonia	2186	BPTF	ORPHA:529962
HP:0008935	Generalized neonatal hypotonia	4576	MT-TT	ORPHA:254857
HP:0008935	Generalized neonatal hypotonia	5192	PEX10	OMIM:614870
HP:0008935	Generalized neonatal hypotonia	5190	PEX6	OMIM:614862
HP:0008935	Generalized neonatal hypotonia	57465	TBC1D24	ORPHA:352596
HP:0008935	Generalized neonatal hypotonia	8504	PEX3	OMIM:614882
HP:0008935	Generalized neonatal hypotonia	9968	MED12	ORPHA:93932
HP:0008935	Generalized neonatal hypotonia	55670	PEX26	OMIM:614872
HP:0008935	Generalized neonatal hypotonia	54332	GDAP1	ORPHA:99948
HP:0008935	Generalized neonatal hypotonia	9409	PEX16	OMIM:614876
HP:0008935	Generalized neonatal hypotonia	5193	PEX12	OMIM:614859
HP:0008935	Generalized neonatal hypotonia	492	ATP2B3	ORPHA:314978
HP:0008935	Generalized neonatal hypotonia	23345	SYNE1	ORPHA:319332
HP:0011993	Impaired neutrophil bactericidal activity	4688	NCF2	OMIM:233710
HP:0011993	Impaired neutrophil bactericidal activity	79415	CYBC1	OMIM:618935
HP:0011993	Impaired neutrophil bactericidal activity	1536	CYBB	OMIM:306400
HP:0011993	Impaired neutrophil bactericidal activity	653361	NCF1	OMIM:233700
HP:0011993	Impaired neutrophil bactericidal activity	84888	SPPL2A	OMIM:619549
HP:0011993	Impaired neutrophil bactericidal activity	1535	CYBA	OMIM:233690
HP:0011993	Impaired neutrophil bactericidal activity	5880	RAC2	OMIM:608203
HP:0011993	Impaired neutrophil bactericidal activity	3394	IRF8	OMIM:226990
HP:0011993	Impaired neutrophil bactericidal activity	1130	LYST	OMIM:214500
HP:0011993	Impaired neutrophil bactericidal activity	1053	CEBPE	OMIM:245480
HP:0011993	Impaired neutrophil bactericidal activity	2821	GPI	OMIM:613470
HP:0011997	Postprandial hyperlactemia	5836	PYGL	ORPHA:369
HP:0011998	Postprandial hyperglycemia	3643	INSR	ORPHA:508
HP:0011998	Postprandial hyperglycemia	3643	INSR	OMIM:262190
HP:0011998	Postprandial hyperglycemia	3643	INSR	ORPHA:769
HP:0011998	Postprandial hyperglycemia	3643	INSR	OMIM:246200
HP:0011998	Postprandial hyperglycemia	2998	GYS2	ORPHA:2089
HP:0011998	Postprandial hyperglycemia	2998	GYS2	OMIM:240600
HP:0011998	Postprandial hyperglycemia	6514	SLC2A2	ORPHA:2088
HP:0011998	Postprandial hyperglycemia	6514	SLC2A2	OMIM:227810
HP:0011998	Postprandial hyperglycemia	6329	SCN4A	ORPHA:681
HP:0011998	Postprandial hyperglycemia	779	CACNA1S	ORPHA:681
HP:0011998	Postprandial hyperglycemia	779	CACNA1S	ORPHA:79102
HP:0011998	Postprandial hyperglycemia	10008	KCNE3	ORPHA:681
HP:0011998	Postprandial hyperglycemia	23729	SHPK	ORPHA:440713
HP:0011998	Postprandial hyperglycemia	100134444	KCNJ18	ORPHA:79102
HP:0011998	Postprandial hyperglycemia	2556	GABRA3	ORPHA:79102
HP:0011999	Paranoia	1678	TIMM8A	ORPHA:52368
HP:0011999	Paranoia	6622	SNCA	OMIM:605543
HP:0011999	Paranoia	84196	USP48	ORPHA:96253
HP:0011999	Paranoia	7157	TP53	ORPHA:96253
HP:0011999	Paranoia	9101	USP8	ORPHA:96253
HP:0011999	Paranoia	64072	CDH23	ORPHA:96253
HP:0011999	Paranoia	2908	NR3C1	ORPHA:96253
HP:0011999	Paranoia	673	BRAF	ORPHA:96253
HP:0011999	Paranoia	546	ATRX	ORPHA:96253
HP:0011999	Paranoia	8398	PLA2G6	ORPHA:199351
HP:0011999	Paranoia	1893	ECM1	OMIM:247100
HP:0011999	Paranoia	3612	IMPA1	OMIM:617323
HP:0011999	Paranoia	56978	PRDM8	OMIM:616640
HP:0011999	Paranoia	56978	PRDM8	ORPHA:324290
HP:0011999	Paranoia	2328	FMO3	ORPHA:468726
HP:0011999	Paranoia	23230	VPS13A	ORPHA:2388
HP:0011999	Paranoia	9993	DGCR2	OMIM:192430
HP:0011999	Paranoia	8220	ESS2	OMIM:192430
HP:0011999	Paranoia	8214	DGCR6	OMIM:192430
HP:0011999	Paranoia	54487	DGCR8	OMIM:192430
HP:0011999	Paranoia	6899	TBX1	OMIM:192430
HP:0011999	Paranoia	5498	PPOX	ORPHA:79473
HP:0011999	Paranoia	3145	HMBS	ORPHA:79276
HP:0011999	Paranoia	6908	TBP	OMIM:607136
HP:0011999	Paranoia	1371	CPOX	OMIM:121300
HP:0011994	Abnormal atrial septum morphology	8036	SHOC2	OMIM:607721
HP:0011994	Abnormal atrial septum morphology	10617	STAMBP	OMIM:614261
HP:0011994	Abnormal atrial septum morphology	8216	LZTR1	OMIM:616564
HP:0011994	Abnormal atrial septum morphology	8216	LZTR1	OMIM:605275
HP:0011994	Abnormal atrial septum morphology	91754	NEK9	OMIM:614262
HP:0011994	Abnormal atrial septum morphology	4750	NEK1	OMIM:263520
HP:0011994	Abnormal atrial septum morphology	23334	SZT2	OMIM:615476
HP:0011994	Abnormal atrial septum morphology	6016	RIT1	OMIM:615355
HP:0011994	Abnormal atrial septum morphology	4625	MYH7	ORPHA:1880
HP:0011994	Abnormal atrial septum morphology	81857	MED25	OMIM:616449
HP:0011994	Abnormal atrial septum morphology	81857	MED25	ORPHA:464738
HP:0011994	Abnormal atrial septum morphology	1788	DNMT3A	ORPHA:404443
HP:0011994	Abnormal atrial septum morphology	1788	DNMT3A	OMIM:615879
HP:0011994	Abnormal atrial septum morphology	1131	CHRM3	ORPHA:2970
HP:0011994	Abnormal atrial septum morphology	64220	STRA6	OMIM:601186
HP:0011994	Abnormal atrial septum morphology	3190	HNRNPK	ORPHA:453504
HP:0011994	Abnormal atrial septum morphology	3190	HNRNPK	ORPHA:352665
HP:0011994	Abnormal atrial septum morphology	10743	RAI1	ORPHA:477817
HP:0011994	Abnormal atrial septum morphology	197131	UBR1	OMIM:243800
HP:0011994	Abnormal atrial septum morphology	23498	HAAO	OMIM:617660
HP:0011994	Abnormal atrial septum morphology	3020	H3-3A	OMIM:619720
HP:0011994	Abnormal atrial septum morphology	3021	H3-3B	OMIM:619721
HP:0011994	Abnormal atrial septum morphology	2050	EPHB4	OMIM:617300
HP:0011994	Abnormal atrial septum morphology	55790	CSGALNACT1	OMIM:618870
HP:0011994	Abnormal atrial septum morphology	65082	VPS33A	OMIM:617303
HP:0011994	Abnormal atrial septum morphology	65082	VPS33A	ORPHA:505248
HP:0011994	Abnormal atrial septum morphology	2201	FBN2	OMIM:121050
HP:0011994	Abnormal atrial septum morphology	10084	PQBP1	ORPHA:93946
HP:0011994	Abnormal atrial septum morphology	10084	PQBP1	ORPHA:93947
HP:0011994	Abnormal atrial septum morphology	10084	PQBP1	OMIM:309500
HP:0011994	Abnormal atrial septum morphology	6595	SMARCA2	ORPHA:2728
HP:0011994	Abnormal atrial septum morphology	2132	EXT2	ORPHA:466926
HP:0011994	Abnormal atrial septum morphology	28960	DCPS	OMIM:616459
HP:0011994	Abnormal atrial septum morphology	9200	HACD1	OMIM:619967
HP:0011994	Abnormal atrial septum morphology	23384	SPECC1L	ORPHA:1519
HP:0011994	Abnormal atrial septum morphology	23384	SPECC1L	OMIM:145420
HP:0011994	Abnormal atrial septum morphology	7086	TKT	ORPHA:488618
HP:0011994	Abnormal atrial septum morphology	7086	TKT	OMIM:617044
HP:0011994	Abnormal atrial septum morphology	57231	SNX14	ORPHA:397709
HP:0011994	Abnormal atrial septum morphology	2188	FANCF	OMIM:603467
HP:0011994	Abnormal atrial septum morphology	2188	FANCF	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	284058	KANSL1	ORPHA:363958
HP:0011994	Abnormal atrial septum morphology	284058	KANSL1	OMIM:610443
HP:0011994	Abnormal atrial septum morphology	284058	KANSL1	ORPHA:363965
HP:0011994	Abnormal atrial septum morphology	9968	MED12	ORPHA:93932
HP:0011994	Abnormal atrial septum morphology	9968	MED12	OMIM:301068
HP:0011994	Abnormal atrial septum morphology	9968	MED12	ORPHA:776
HP:0011994	Abnormal atrial septum morphology	9968	MED12	OMIM:309520
HP:0011994	Abnormal atrial septum morphology	2261	FGFR3	ORPHA:1860
HP:0011994	Abnormal atrial septum morphology	2261	FGFR3	ORPHA:93274
HP:0011994	Abnormal atrial septum morphology	55109	AGGF1	ORPHA:90308
HP:0011994	Abnormal atrial septum morphology	64359	NXN	ORPHA:1507
HP:0011994	Abnormal atrial septum morphology	4920	ROR2	ORPHA:1507
HP:0011994	Abnormal atrial septum morphology	4313	MMP2	ORPHA:371428
HP:0011994	Abnormal atrial septum morphology	4323	MMP14	ORPHA:371428
HP:0011994	Abnormal atrial septum morphology	5566	PRKACA	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	5567	PRKACB	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	2735	GLI1	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	2121	EVC	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	2121	EVC	OMIM:225500
HP:0011994	Abnormal atrial septum morphology	51626	DYNC2LI1	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	132884	EVC2	ORPHA:289
HP:0011994	Abnormal atrial septum morphology	132884	EVC2	OMIM:225500
HP:0011994	Abnormal atrial septum morphology	10815	CPLX1	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	10815	CPLX1	OMIM:194190
HP:0011994	Abnormal atrial septum morphology	54872	PIGG	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	7469	NELFA	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	1487	CTBP1	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	1487	CTBP1	OMIM:194190
HP:0011994	Abnormal atrial septum morphology	3954	LETM1	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	3954	LETM1	OMIM:194190
HP:0011994	Abnormal atrial septum morphology	7468	NSD2	ORPHA:280
HP:0011994	Abnormal atrial septum morphology	7468	NSD2	OMIM:194190
HP:0011994	Abnormal atrial septum morphology	22884	WDR37	OMIM:618652
HP:0011994	Abnormal atrial septum morphology	833	CARS1	OMIM:618891
HP:0011994	Abnormal atrial septum morphology	7092	TLL1	OMIM:613087
HP:0011994	Abnormal atrial septum morphology	8550	MAPKAPK5	OMIM:619869
HP:0011994	Abnormal atrial septum morphology	26040	SETBP1	OMIM:269150
HP:0011994	Abnormal atrial septum morphology	2296	FOXC1	OMIM:602482
HP:0011994	Abnormal atrial septum morphology	8241	RBM10	OMIM:311900
HP:0011994	Abnormal atrial septum morphology	8241	RBM10	ORPHA:2886
HP:0011994	Abnormal atrial septum morphology	5337	PLD1	OMIM:212093
HP:0011994	Abnormal atrial septum morphology	1182	CLCN3	OMIM:619512
HP:0011994	Abnormal atrial septum morphology	1349	COX7B	OMIM:309801
HP:0011994	Abnormal atrial septum morphology	1349	COX7B	OMIM:300887
HP:0011994	Abnormal atrial septum morphology	3052	HCCS	OMIM:309801
HP:0011994	Abnormal atrial septum morphology	54539	NDUFB11	OMIM:309801
HP:0011994	Abnormal atrial septum morphology	23126	POGZ	OMIM:616364
HP:0011994	Abnormal atrial septum morphology	54914	FOCAD	OMIM:619991
HP:0011994	Abnormal atrial septum morphology	8558	CDK10	OMIM:617694
HP:0011994	Abnormal atrial septum morphology	51633	OTUD6B	OMIM:617452
HP:0011994	Abnormal atrial septum morphology	51633	OTUD6B	ORPHA:505237
HP:0011994	Abnormal atrial septum morphology	5604	MAP2K1	OMIM:615279
HP:0011994	Abnormal atrial septum morphology	5604	MAP2K1	ORPHA:1340
HP:0011994	Abnormal atrial septum morphology	5604	MAP2K1	OMIM:163950
HP:0011994	Abnormal atrial septum morphology	6134	RPL10	ORPHA:459070
HP:0011994	Abnormal atrial septum morphology	6134	RPL10	OMIM:300998
HP:0011994	Abnormal atrial septum morphology	286	ANK1	ORPHA:251066
HP:0011994	Abnormal atrial septum morphology	415	ARSL	ORPHA:79345
HP:0011994	Abnormal atrial septum morphology	79796	ALG9	ORPHA:79328
HP:0011994	Abnormal atrial septum morphology	7385	UQCRC2	OMIM:615160
HP:0011994	Abnormal atrial septum morphology	7750	ZMYM2	OMIM:619522
HP:0011994	Abnormal atrial septum morphology	10991	SLC38A3	OMIM:619881
HP:0011994	Abnormal atrial septum morphology	9772	TMEM94	OMIM:618316
HP:0011994	Abnormal atrial septum morphology	51341	ZBTB7A	OMIM:619769
HP:0011994	Abnormal atrial septum morphology	7841	MOGS	ORPHA:79330
HP:0011994	Abnormal atrial septum morphology	2316	FLNA	OMIM:304120
HP:0011994	Abnormal atrial septum morphology	57724	EPG5	OMIM:242840
HP:0011994	Abnormal atrial septum morphology	23556	PIGN	OMIM:614080
HP:0011994	Abnormal atrial septum morphology	23556	PIGN	ORPHA:280633
HP:0011994	Abnormal atrial septum morphology	2239	GPC4	ORPHA:373
HP:0011994	Abnormal atrial septum morphology	2239	GPC4	OMIM:312870
HP:0011994	Abnormal atrial septum morphology	2719	GPC3	ORPHA:373
HP:0011994	Abnormal atrial septum morphology	2719	GPC3	OMIM:312870
HP:0011994	Abnormal atrial septum morphology	285203	EOGT	OMIM:615297
HP:0011994	Abnormal atrial septum morphology	54916	TMEM260	OMIM:617478
HP:0011994	Abnormal atrial septum morphology	4087	SMAD2	OMIM:619657
HP:0011994	Abnormal atrial septum morphology	1107	CHD3	OMIM:618205
HP:0011994	Abnormal atrial septum morphology	3756	KCNH1	OMIM:611816
HP:0011994	Abnormal atrial septum morphology	6138	RPL15	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6229	RPS24	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6125	RPL5	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6125	RPL5	OMIM:612561
HP:0011994	Abnormal atrial septum morphology	6204	RPS10	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6224	RPS20	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6165	RPL35A	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	2623	GATA1	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	2623	GATA1	OMIM:190685
HP:0011994	Abnormal atrial septum morphology	6223	RPS19	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6223	RPS19	OMIM:105650
HP:0011994	Abnormal atrial septum morphology	6232	RPS27	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6231	RPS26	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	11224	RPL35	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6160	RPL31	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6218	RPS17	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6218	RPS17	OMIM:612527
HP:0011994	Abnormal atrial septum morphology	6201	RPS7	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6155	RPL27	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6155	RPL27	OMIM:617408
HP:0011994	Abnormal atrial septum morphology	6154	RPL26	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6210	RPS15A	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	90121	TSR2	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6141	RPL18	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6235	RPS29	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	6234	RPS28	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	51816	ADA2	ORPHA:124
HP:0011994	Abnormal atrial septum morphology	3845	KRAS	OMIM:600268
HP:0011994	Abnormal atrial septum morphology	3845	KRAS	ORPHA:1340
HP:0011994	Abnormal atrial septum morphology	3845	KRAS	OMIM:609942
HP:0011994	Abnormal atrial septum morphology	25970	SH2B1	ORPHA:261197
HP:0011994	Abnormal atrial septum morphology	8621	CDK13	OMIM:617360
HP:0011994	Abnormal atrial septum morphology	1523	CUX1	OMIM:618330
HP:0011994	Abnormal atrial septum morphology	7046	TGFBR1	OMIM:609192
HP:0011994	Abnormal atrial septum morphology	6654	SOS1	OMIM:610733
HP:0011994	Abnormal atrial septum morphology	1801	DPH1	ORPHA:459061
HP:0011994	Abnormal atrial septum morphology	7080	NKX2-1	OMIM:610978
HP:0011994	Abnormal atrial septum morphology	7080	NKX2-1	ORPHA:209905
HP:0011994	Abnormal atrial septum morphology	2879	GPX4	OMIM:250220
HP:0011994	Abnormal atrial septum morphology	64132	XYLT2	OMIM:605822
HP:0011994	Abnormal atrial septum morphology	2737	GLI3	ORPHA:672
HP:0011994	Abnormal atrial septum morphology	9361	LONP1	OMIM:600373
HP:0011994	Abnormal atrial septum morphology	6909	TBX2	OMIM:618223
HP:0011994	Abnormal atrial septum morphology	6477	SIAH1	OMIM:619314
HP:0011994	Abnormal atrial septum morphology	123606	NIPA1	ORPHA:261183
HP:0011994	Abnormal atrial septum morphology	7283	TUBG1	ORPHA:261183
HP:0011994	Abnormal atrial septum morphology	81614	NIPA2	ORPHA:261183
HP:0011994	Abnormal atrial septum morphology	92335	STRADA	ORPHA:500533
HP:0011994	Abnormal atrial septum morphology	92335	STRADA	OMIM:611087
HP:0011994	Abnormal atrial septum morphology	4838	NODAL	OMIM:270100
HP:0011994	Abnormal atrial septum morphology	55315	SLC29A3	OMIM:602782
HP:0011994	Abnormal atrial septum morphology	6888	TALDO1	ORPHA:101028
HP:0011994	Abnormal atrial septum morphology	6888	TALDO1	OMIM:606003
HP:0011994	Abnormal atrial septum morphology	6299	SALL1	OMIM:107480
HP:0011994	Abnormal atrial septum morphology	6299	SALL1	ORPHA:857
HP:0011994	Abnormal atrial septum morphology	7490	WT1	ORPHA:3097
HP:0011994	Abnormal atrial septum morphology	7490	WT1	OMIM:608978
HP:0011994	Abnormal atrial septum morphology	5515	PPP2CA	OMIM:618354
HP:0011994	Abnormal atrial septum morphology	1387	CREBBP	ORPHA:353281
HP:0011994	Abnormal atrial septum morphology	1387	CREBBP	OMIM:180849
HP:0011994	Abnormal atrial septum morphology	1387	CREBBP	ORPHA:353277
HP:0011994	Abnormal atrial septum morphology	650	BMP2	ORPHA:261295
HP:0011994	Abnormal atrial septum morphology	6651	SON	OMIM:617140
HP:0011994	Abnormal atrial septum morphology	6651	SON	ORPHA:500150
HP:0011994	Abnormal atrial septum morphology	5649	RELN	ORPHA:89844
HP:0011994	Abnormal atrial septum morphology	10300	KATNB1	ORPHA:89844
HP:0011994	Abnormal atrial septum morphology	54820	NDE1	ORPHA:89844
HP:0011994	Abnormal atrial septum morphology	55215	FANCI	OMIM:609053
HP:0011994	Abnormal atrial septum morphology	55215	FANCI	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	1363	CPE	OMIM:619326
HP:0011994	Abnormal atrial septum morphology	2033	EP300	ORPHA:353284
HP:0011994	Abnormal atrial septum morphology	2033	EP300	OMIM:180849
HP:0011994	Abnormal atrial septum morphology	51114	ZDHHC9	ORPHA:776
HP:0011994	Abnormal atrial septum morphology	65109	UPF3B	ORPHA:776
HP:0011994	Abnormal atrial septum morphology	5077	PAX3	ORPHA:896
HP:0011994	Abnormal atrial septum morphology	9126	SMC3	OMIM:610759
HP:0011994	Abnormal atrial septum morphology	9126	SMC3	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	4784	NFIX	OMIM:602535
HP:0011994	Abnormal atrial septum morphology	2530	FUT8	OMIM:618005
HP:0011994	Abnormal atrial septum morphology	50619	DEF6	OMIM:619573
HP:0011994	Abnormal atrial septum morphology	10082	GPC6	OMIM:258315
HP:0011994	Abnormal atrial septum morphology	1108	CHD4	OMIM:617159
HP:0011994	Abnormal atrial septum morphology	54551	MAGEL2	ORPHA:398069
HP:0011994	Abnormal atrial septum morphology	201163	FLCN	OMIM:610883
HP:0011994	Abnormal atrial septum morphology	1312	COMT	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	221037	JMJD1C	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	2812	GP1BB	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	6239	RREB1	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	6899	TBX1	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	7290	HIRA	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	9632	SEC24C	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	7353	UFD1	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	421	ARVCF	ORPHA:567
HP:0011994	Abnormal atrial septum morphology	7703	PCGF2	OMIM:618371
HP:0011994	Abnormal atrial septum morphology	27031	NPHP3	OMIM:267010
HP:0011994	Abnormal atrial septum morphology	27031	NPHP3	OMIM:208540
HP:0011994	Abnormal atrial septum morphology	9496	TBX4	ORPHA:261279
HP:0011994	Abnormal atrial septum morphology	26276	VPS33B	OMIM:208085
HP:0011994	Abnormal atrial septum morphology	22808	MRAS	OMIM:618499
HP:0011994	Abnormal atrial septum morphology	5277	PIGA	OMIM:300868
HP:0011994	Abnormal atrial septum morphology	1822	ATN1	OMIM:618494
HP:0011994	Abnormal atrial septum morphology	7403	KDM6A	OMIM:300867
HP:0011994	Abnormal atrial septum morphology	7403	KDM6A	OMIM:147920
HP:0011994	Abnormal atrial septum morphology	3188	HNRNPH2	OMIM:300986
HP:0011994	Abnormal atrial septum morphology	54538	ROBO4	OMIM:618496
HP:0011994	Abnormal atrial septum morphology	9343	EFTUD2	OMIM:610536
HP:0011994	Abnormal atrial septum morphology	9343	EFTUD2	ORPHA:79113
HP:0011994	Abnormal atrial septum morphology	55186	SLC25A36	OMIM:620211
HP:0011994	Abnormal atrial septum morphology	26160	IFT172	OMIM:619471
HP:0011994	Abnormal atrial septum morphology	5281	PIGF	OMIM:619356
HP:0011994	Abnormal atrial septum morphology	1277	COL1A1	OMIM:619115
HP:0011994	Abnormal atrial septum morphology	10526	IPO8	OMIM:619472
HP:0011994	Abnormal atrial septum morphology	348180	CTU2	OMIM:618142
HP:0011994	Abnormal atrial septum morphology	51604	PIGT	ORPHA:369837
HP:0011994	Abnormal atrial septum morphology	145173	B3GLCT	OMIM:261540
HP:0011994	Abnormal atrial septum morphology	92002	CCNQ	OMIM:300707
HP:0011994	Abnormal atrial septum morphology	57514	ARHGAP31	OMIM:100300
HP:0011994	Abnormal atrial septum morphology	8452	CUL3	OMIM:619239
HP:0011994	Abnormal atrial septum morphology	2218	FKTN	OMIM:253800
HP:0011994	Abnormal atrial septum morphology	113189	CHST14	OMIM:601776
HP:0011994	Abnormal atrial septum morphology	51360	MBTPS2	OMIM:308205
HP:0011994	Abnormal atrial septum morphology	7204	TRIO	OMIM:617061
HP:0011994	Abnormal atrial septum morphology	374879	ZNF699	OMIM:619488
HP:0011994	Abnormal atrial septum morphology	4841	NONO	OMIM:300967
HP:0011994	Abnormal atrial septum morphology	4841	NONO	ORPHA:466791
HP:0011994	Abnormal atrial septum morphology	51715	RAB23	OMIM:201000
HP:0011994	Abnormal atrial septum morphology	8239	USP9X	OMIM:300968
HP:0011994	Abnormal atrial septum morphology	8239	USP9X	ORPHA:480880
HP:0011994	Abnormal atrial septum morphology	8318	CDC45	OMIM:617063
HP:0011994	Abnormal atrial septum morphology	28952	CCDC22	OMIM:300963
HP:0011994	Abnormal atrial septum morphology	28952	CCDC22	ORPHA:7
HP:0011994	Abnormal atrial septum morphology	51339	DACT1	ORPHA:857
HP:0011994	Abnormal atrial septum morphology	673	BRAF	OMIM:613706
HP:0011994	Abnormal atrial septum morphology	673	BRAF	OMIM:115150
HP:0011994	Abnormal atrial septum morphology	673	BRAF	ORPHA:1340
HP:0011994	Abnormal atrial septum morphology	673	BRAF	OMIM:163950
HP:0011994	Abnormal atrial septum morphology	126792	B3GALT6	OMIM:271640
HP:0011994	Abnormal atrial septum morphology	745	MYRF	OMIM:618280
HP:0011994	Abnormal atrial septum morphology	55252	ASXL2	OMIM:617190
HP:0011994	Abnormal atrial septum morphology	84905	ZNF341	OMIM:618282
HP:0011994	Abnormal atrial septum morphology	23387	SIK3	OMIM:618162
HP:0011994	Abnormal atrial septum morphology	5528	PPP2R5D	ORPHA:457279
HP:0011994	Abnormal atrial septum morphology	7716	VEZF1	OMIM:620247
HP:0011994	Abnormal atrial septum morphology	5557	PRIM1	OMIM:620005
HP:0011994	Abnormal atrial septum morphology	3643	INSR	ORPHA:769
HP:0011994	Abnormal atrial septum morphology	59	ACTA2	OMIM:613834
HP:0011994	Abnormal atrial septum morphology	4853	NOTCH2	OMIM:610205
HP:0011994	Abnormal atrial septum morphology	23522	KAT6B	ORPHA:3047
HP:0011994	Abnormal atrial septum morphology	23522	KAT6B	OMIM:606170
HP:0011994	Abnormal atrial septum morphology	23522	KAT6B	ORPHA:85201
HP:0011994	Abnormal atrial septum morphology	55901	THSD1	OMIM:620244
HP:0011994	Abnormal atrial septum morphology	9897	WASHC5	ORPHA:7
HP:0011994	Abnormal atrial septum morphology	9897	WASHC5	OMIM:220210
HP:0011994	Abnormal atrial septum morphology	129285	PPP1R21	OMIM:619383
HP:0011994	Abnormal atrial septum morphology	55181	SMG8	OMIM:619268
HP:0011994	Abnormal atrial septum morphology	27161	AGO2	OMIM:619149
HP:0011994	Abnormal atrial septum morphology	9652	SKIC3	ORPHA:84064
HP:0011994	Abnormal atrial septum morphology	6499	SKIC2	ORPHA:84064
HP:0011994	Abnormal atrial septum morphology	4713	NDUFB7	OMIM:620135
HP:0011994	Abnormal atrial septum morphology	3480	IGF1R	OMIM:270450
HP:0011994	Abnormal atrial septum morphology	8085	KMT2D	OMIM:147920
HP:0011994	Abnormal atrial septum morphology	8085	KMT2D	OMIM:620186
HP:0011994	Abnormal atrial septum morphology	2294	FOXF1	OMIM:265380
HP:0011994	Abnormal atrial septum morphology	2294	FOXF1	ORPHA:210122
HP:0011994	Abnormal atrial septum morphology	137814	NKX2-6	ORPHA:3384
HP:0011994	Abnormal atrial septum morphology	23129	PLXND1	ORPHA:3384
HP:0011994	Abnormal atrial septum morphology	23241	PACS2	OMIM:618067
HP:0011994	Abnormal atrial septum morphology	57539	WDR35	OMIM:613610
HP:0011994	Abnormal atrial septum morphology	5894	RAF1	OMIM:611553
HP:0011994	Abnormal atrial septum morphology	8496	PPFIBP1	OMIM:620024
HP:0011994	Abnormal atrial septum morphology	9839	ZEB2	OMIM:235730
HP:0011994	Abnormal atrial septum morphology	64324	NSD1	ORPHA:821
HP:0011994	Abnormal atrial septum morphology	64324	NSD1	OMIM:117550
HP:0011994	Abnormal atrial septum morphology	29072	SETD2	ORPHA:821
HP:0011994	Abnormal atrial septum morphology	10297	APC2	ORPHA:821
HP:0011994	Abnormal atrial septum morphology	1278	COL1A2	ORPHA:230851
HP:0011994	Abnormal atrial septum morphology	613	BCR	ORPHA:261330
HP:0011994	Abnormal atrial septum morphology	1399	CRKL	ORPHA:261330
HP:0011994	Abnormal atrial septum morphology	5594	MAPK1	ORPHA:261330
HP:0011994	Abnormal atrial septum morphology	5594	MAPK1	OMIM:619087
HP:0011994	Abnormal atrial septum morphology	89910	UBE3B	OMIM:244450
HP:0011994	Abnormal atrial septum morphology	55788	LMBRD1	OMIM:277380
HP:0011994	Abnormal atrial septum morphology	10847	SRCAP	ORPHA:2044
HP:0011994	Abnormal atrial septum morphology	10847	SRCAP	OMIM:136140
HP:0011994	Abnormal atrial septum morphology	1717	DHCR7	ORPHA:818
HP:0011994	Abnormal atrial septum morphology	1717	DHCR7	OMIM:270400
HP:0011994	Abnormal atrial septum morphology	56992	KIF15	ORPHA:261323
HP:0011994	Abnormal atrial septum morphology	57492	ARID1B	OMIM:135900
HP:0011994	Abnormal atrial septum morphology	57492	ARID1B	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	1889	ECE1	OMIM:613870
HP:0011994	Abnormal atrial septum morphology	672	BRCA1	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	10459	MAD2L2	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	7516	XRCC2	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	29089	UBE2T	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	675	BRCA2	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	55120	FANCL	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2177	FANCD2	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2175	FANCA	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2187	FANCB	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2176	FANCC	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2178	FANCE	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	2189	FANCG	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	5888	RAD51	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	5889	RAD51C	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	55159	RFWD3	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	83990	BRIP1	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	57697	FANCM	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	79728	PALB2	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	84464	SLX4	ORPHA:84
HP:0011994	Abnormal atrial septum morphology	6597	SMARCA4	OMIM:614609
HP:0011994	Abnormal atrial septum morphology	6597	SMARCA4	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	222663	SCUBE3	OMIM:619184
HP:0011994	Abnormal atrial septum morphology	9896	FIG4	ORPHA:3472
HP:0011994	Abnormal atrial septum morphology	55697	VAC14	ORPHA:3472
HP:0011994	Abnormal atrial septum morphology	9184	BUB3	ORPHA:1052
HP:0011994	Abnormal atrial septum morphology	9702	CEP57	ORPHA:1052
HP:0011994	Abnormal atrial septum morphology	9702	CEP57	OMIM:614114
HP:0011994	Abnormal atrial septum morphology	9319	TRIP13	ORPHA:1052
HP:0011994	Abnormal atrial septum morphology	701	BUB1B	ORPHA:1052
HP:0011994	Abnormal atrial septum morphology	701	BUB1B	OMIM:257300
HP:0011994	Abnormal atrial septum morphology	26053	AUTS2	ORPHA:352490
HP:0011994	Abnormal atrial septum morphology	6885	MAP3K7	OMIM:157800
HP:0011994	Abnormal atrial septum morphology	55148	UBR7	OMIM:619189
HP:0011994	Abnormal atrial septum morphology	1954	MEGF8	OMIM:614976
HP:0011994	Abnormal atrial septum morphology	5728	PTEN	ORPHA:79076
HP:0011994	Abnormal atrial septum morphology	657	BMPR1A	ORPHA:79076
HP:0011994	Abnormal atrial septum morphology	26005	C2CD3	OMIM:615948
HP:0011994	Abnormal atrial septum morphology	53834	FGFRL1	OMIM:194190
HP:0011994	Abnormal atrial septum morphology	3265	HRAS	OMIM:218040
HP:0011994	Abnormal atrial septum morphology	5826	ABCD4	OMIM:614857
HP:0011994	Abnormal atrial septum morphology	2697	GJA1	OMIM:164200
HP:0011994	Abnormal atrial septum morphology	2697	GJA1	ORPHA:2248
HP:0011994	Abnormal atrial septum morphology	10841	FTCD	ORPHA:51208
HP:0011994	Abnormal atrial septum morphology	5828	PEX2	OMIM:614866
HP:0011994	Abnormal atrial septum morphology	6804	STX1A	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	7461	CLIP2	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	84277	DNAJC30	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	8468	FKBP6	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	5982	RFC2	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	2969	GTF2I	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	3984	LIMK1	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	9569	GTF2IRD1	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	155382	VPS37D	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	155368	METTL27	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	114049	BUD23	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	7458	EIF4H	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	84163	GTF2IRD2	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	9275	BCL7B	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	26608	TBL2	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	653361	NCF1	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	135886	TMEM270	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	51085	MLXIPL	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	51085	MLXIPL	OMIM:194050
HP:0011994	Abnormal atrial septum morphology	9031	BAZ1B	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	2006	ELN	ORPHA:904
HP:0011994	Abnormal atrial septum morphology	2006	ELN	OMIM:194050
HP:0011994	Abnormal atrial septum morphology	84720	PIGO	OMIM:614749
HP:0011994	Abnormal atrial septum morphology	6789	STK4	OMIM:614868
HP:0011994	Abnormal atrial septum morphology	54499	TMCO1	OMIM:213980
HP:0011994	Abnormal atrial septum morphology	55719	SLF2	OMIM:620184
HP:0011994	Abnormal atrial septum morphology	10907	TXNL4A	OMIM:608572
HP:0011994	Abnormal atrial septum morphology	51611	DPH5	OMIM:620070
HP:0011994	Abnormal atrial septum morphology	79228	THOC6	ORPHA:363444
HP:0011994	Abnormal atrial septum morphology	4089	SMAD4	OMIM:139210
HP:0011994	Abnormal atrial septum morphology	57057	TBX20	OMIM:611363
HP:0011994	Abnormal atrial septum morphology	182	JAG1	OMIM:118450
HP:0011994	Abnormal atrial septum morphology	6605	SMARCE1	OMIM:616938
HP:0011994	Abnormal atrial septum morphology	6605	SMARCE1	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	388015	RTL1	ORPHA:96334
HP:0011994	Abnormal atrial septum morphology	8788	DLK1	ORPHA:96334
HP:0011994	Abnormal atrial septum morphology	55384	MEG3	ORPHA:96334
HP:0011994	Abnormal atrial septum morphology	3911	LAMA5	OMIM:620076
HP:0011994	Abnormal atrial septum morphology	10430	TMEM147	OMIM:620075
HP:0011994	Abnormal atrial septum morphology	7355	SLC35A2	OMIM:300896
HP:0011994	Abnormal atrial septum morphology	23483	TGDS	ORPHA:1388
HP:0011994	Abnormal atrial septum morphology	4088	SMAD3	OMIM:613795
HP:0011994	Abnormal atrial septum morphology	80184	CEP290	OMIM:611134
HP:0011994	Abnormal atrial septum morphology	7048	TGFBR2	OMIM:610168
HP:0011994	Abnormal atrial septum morphology	140628	GATA5	OMIM:617912
HP:0011994	Abnormal atrial septum morphology	5824	PEX19	OMIM:614886
HP:0011994	Abnormal atrial septum morphology	8195	MKKS	ORPHA:2473
HP:0011994	Abnormal atrial septum morphology	51574	LARP7	ORPHA:319671
HP:0011994	Abnormal atrial septum morphology	147372	CCBE1	OMIM:235510
HP:0011994	Abnormal atrial septum morphology	50945	TBX22	ORPHA:921
HP:0011994	Abnormal atrial septum morphology	84978	FRMD5	OMIM:620094
HP:0011994	Abnormal atrial septum morphology	157570	ESCO2	OMIM:268300
HP:0011994	Abnormal atrial septum morphology	171023	ASXL1	OMIM:605039
HP:0011994	Abnormal atrial septum morphology	2317	FLNB	OMIM:150250
HP:0011994	Abnormal atrial septum morphology	583	BBS2	OMIM:615981
HP:0011994	Abnormal atrial septum morphology	2702	GJA5	OMIM:612474
HP:0011994	Abnormal atrial septum morphology	2703	GJA8	OMIM:612474
HP:0011994	Abnormal atrial septum morphology	55690	PACS1	ORPHA:329224
HP:0011994	Abnormal atrial septum morphology	10664	CTCF	OMIM:615502
HP:0011994	Abnormal atrial septum morphology	10664	CTCF	ORPHA:363611
HP:0011994	Abnormal atrial septum morphology	196528	ARID2	OMIM:617808
HP:0011994	Abnormal atrial septum morphology	196528	ARID2	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	8243	SMC1A	OMIM:301044
HP:0011994	Abnormal atrial septum morphology	8243	SMC1A	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	9780	PIEZO1	OMIM:616843
HP:0011994	Abnormal atrial septum morphology	11020	IFT27	OMIM:615996
HP:0011994	Abnormal atrial septum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011994	Abnormal atrial septum morphology	5648	MASP1	OMIM:257920
HP:0011994	Abnormal atrial septum morphology	23394	ADNP	OMIM:615873
HP:0011994	Abnormal atrial septum morphology	57167	SALL4	OMIM:607323
HP:0011994	Abnormal atrial septum morphology	2258	FGF13	OMIM:301058
HP:0011994	Abnormal atrial septum morphology	57465	TBC1D24	OMIM:220500
HP:0011994	Abnormal atrial septum morphology	113179	ADAT3	ORPHA:363528
HP:0011994	Abnormal atrial septum morphology	3313	HSPA9	OMIM:616854
HP:0011994	Abnormal atrial septum morphology	10370	CITED2	OMIM:614433
HP:0011994	Abnormal atrial septum morphology	131118	DNAJC19	OMIM:610198
HP:0011994	Abnormal atrial septum morphology	5447	POR	OMIM:207410
HP:0011994	Abnormal atrial septum morphology	2263	FGFR2	OMIM:207410
HP:0011994	Abnormal atrial septum morphology	10560	SLC19A2	ORPHA:49827
HP:0011994	Abnormal atrial septum morphology	10560	SLC19A2	OMIM:249270
HP:0011994	Abnormal atrial septum morphology	4297	KMT2A	OMIM:605130
HP:0011994	Abnormal atrial septum morphology	7547	ZIC3	OMIM:306955
HP:0011994	Abnormal atrial septum morphology	10265	IRX5	OMIM:611174
HP:0011994	Abnormal atrial septum morphology	6598	SMARCB1	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	6659	SOX4	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	8289	ARID1A	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	5977	DPF2	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	6601	SMARCC2	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	6602	SMARCD1	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	6664	SOX11	ORPHA:1465
HP:0011994	Abnormal atrial septum morphology	27315	PGAP2	OMIM:614207
HP:0011994	Abnormal atrial septum morphology	5605	MAP2K2	ORPHA:1340
HP:0011994	Abnormal atrial septum morphology	118856	MMP21	OMIM:616749
HP:0011994	Abnormal atrial septum morphology	6606	SMN1	OMIM:253300
HP:0011994	Abnormal atrial septum morphology	54806	AHI1	OMIM:608629
HP:0011994	Abnormal atrial septum morphology	5422	POLA1	OMIM:301030
HP:0011994	Abnormal atrial septum morphology	79576	NKAP	OMIM:301039
HP:0011994	Abnormal atrial septum morphology	25	ABL1	OMIM:617602
HP:0011994	Abnormal atrial septum morphology	57511	COG6	OMIM:614576
HP:0011994	Abnormal atrial septum morphology	2260	FGFR1	OMIM:613001
HP:0011994	Abnormal atrial septum morphology	23476	BRD4	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	25836	NIPBL	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	55869	HDAC8	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	5885	RAD21	ORPHA:199
HP:0011994	Abnormal atrial septum morphology	6628	SNRPB	OMIM:117650
HP:0011994	Abnormal atrial septum morphology	29957	SLC25A24	OMIM:612289
HP:0011994	Abnormal atrial septum morphology	54880	BCOR	OMIM:300166
HP:0011994	Abnormal atrial septum morphology	55617	TASP1	OMIM:618950
HP:0011994	Abnormal atrial septum morphology	6857	SYT1	ORPHA:522077
HP:0011994	Abnormal atrial septum morphology	10293	TRAIP	OMIM:616777
HP:0011994	Abnormal atrial septum morphology	4780	NFE2L2	OMIM:617744
HP:0011994	Abnormal atrial septum morphology	3832	KIF11	ORPHA:2526
HP:0011994	Abnormal atrial septum morphology	5500	PPP1CB	OMIM:617506
HP:0011994	Abnormal atrial septum morphology	93649	MYOCD	OMIM:618719
HP:0011994	Abnormal atrial septum morphology	139285	AMER1	OMIM:300373
HP:0011994	Abnormal atrial septum morphology	5296	PIK3R2	OMIM:603387
HP:0011994	Abnormal atrial septum morphology	9786	KIAA0586	OMIM:616546
HP:0011994	Abnormal atrial septum morphology	5116	PCNT	ORPHA:2637
HP:0011994	Abnormal atrial septum morphology	4000	LMNA	ORPHA:1662
HP:0011994	Abnormal atrial septum morphology	10269	ZMPSTE24	ORPHA:1662
HP:0011994	Abnormal atrial septum morphology	10269	ZMPSTE24	OMIM:275210
HP:0011994	Abnormal atrial septum morphology	8777	MPDZ	OMIM:615219
HP:0011994	Abnormal atrial septum morphology	9439	MED23	OMIM:614249
HP:0011994	Abnormal atrial septum morphology	9939	RBM8A	OMIM:274000
HP:0011994	Abnormal atrial septum morphology	9451	EIF2AK3	ORPHA:1667
HP:0011994	Abnormal atrial septum morphology	37	ACADVL	ORPHA:26793
HP:0011994	Abnormal atrial septum morphology	9469	CHST3	OMIM:245600
HP:0011994	Abnormal atrial septum morphology	26229	B3GAT3	OMIM:245600
HP:0011994	Abnormal atrial septum morphology	7043	TGFB3	OMIM:615582
HP:0011994	Abnormal atrial septum morphology	4281	MID1	ORPHA:2745
HP:0011994	Abnormal atrial septum morphology	523	ATP6V1A	OMIM:617403
HP:0011994	Abnormal atrial septum morphology	7372	UMPS	OMIM:258900
HP:0011994	Abnormal atrial septum morphology	529	ATP6V1E1	OMIM:617402
HP:0011994	Abnormal atrial septum morphology	84148	KAT8	OMIM:618974
HP:0011994	Abnormal atrial septum morphology	100128908	CIROP	OMIM:619702
HP:0011994	Abnormal atrial septum morphology	5781	PTPN11	OMIM:163950
HP:0011994	Abnormal atrial septum morphology	9949	AMMECR1	OMIM:300990
HP:0011994	Abnormal atrial septum morphology	7528	YY1	ORPHA:506358
HP:0011994	Abnormal atrial septum morphology	7528	YY1	OMIM:617557
HP:0011994	Abnormal atrial septum morphology	10735	STAG2	OMIM:301043
HP:0011994	Abnormal atrial septum morphology	776	CACNA1D	OMIM:615474
HP:0011994	Abnormal atrial septum morphology	54892	NCAPG2	OMIM:618460
HP:0011994	Abnormal atrial septum morphology	8425	LTBP4	OMIM:613177
HP:0011994	Abnormal atrial septum morphology	1024	CDK8	OMIM:618748
HP:0011994	Abnormal atrial septum morphology	4091	SMAD6	OMIM:614823
HP:0011994	Abnormal atrial septum morphology	10102	TSFM	OMIM:610505
HP:0011994	Abnormal atrial septum morphology	27125	AFF4	ORPHA:444077
HP:0011994	Abnormal atrial septum morphology	27125	AFF4	OMIM:616368
HP:0011994	Abnormal atrial septum morphology	9578	CDC42BPB	OMIM:619841
HP:0011994	Abnormal atrial septum morphology	29998	BICRA	OMIM:619325
HP:0011994	Abnormal atrial septum morphology	51506	UFC1	OMIM:618076
HP:0011994	Abnormal atrial septum morphology	6392	SDHD	OMIM:619167
HP:0011994	Abnormal atrial septum morphology	473	RERE	OMIM:616975
HP:0011994	Abnormal atrial septum morphology	23291	FBXW11	OMIM:618914
HP:0011994	Abnormal atrial septum morphology	79158	GNPTAB	ORPHA:576
HP:0011994	Abnormal atrial septum morphology	4001	LMNB1	OMIM:619179
HP:0011994	Abnormal atrial septum morphology	51434	ANAPC7	OMIM:619699
HP:0011994	Abnormal atrial septum morphology	5119	CHMP1A	OMIM:614961
HP:0011994	Abnormal atrial septum morphology	51008	ASCC1	OMIM:616867
HP:0011994	Abnormal atrial septum morphology	29940	DSE	OMIM:615539
HP:0011994	Abnormal atrial septum morphology	23389	MED13L	ORPHA:369891
HP:0011994	Abnormal atrial septum morphology	23389	MED13L	OMIM:616789
HP:0011994	Abnormal atrial septum morphology	79087	ALG12	OMIM:607143
HP:0011994	Abnormal atrial septum morphology	79087	ALG12	ORPHA:79324
HP:0011994	Abnormal atrial septum morphology	23028	KDM1A	ORPHA:477993
HP:0011994	Abnormal atrial septum morphology	1656	DDX6	OMIM:618653
HP:0011994	Abnormal atrial septum morphology	1301	COL11A1	OMIM:228520
HP:0011994	Abnormal atrial septum morphology	8802	SUCLG1	ORPHA:17
HP:0011994	Abnormal atrial septum morphology	6638	SNRPN	ORPHA:177907
HP:0011994	Abnormal atrial septum morphology	26227	PHGDH	OMIM:256520
HP:0011994	Abnormal atrial septum morphology	6772	STAT1	ORPHA:391487
HP:0011994	Abnormal atrial septum morphology	10043	TOM1	ORPHA:391487
HP:0011994	Abnormal atrial septum morphology	1763	DNA2	OMIM:615156
HP:0011994	Abnormal atrial septum morphology	11222	MRPL3	OMIM:614582
HP:0011994	Abnormal atrial septum morphology	91461	PKDCC	OMIM:618821
HP:0011994	Abnormal atrial septum morphology	10681	GNB5	OMIM:617182
HP:0011994	Abnormal atrial septum morphology	10681	GNB5	ORPHA:542306
HP:0011994	Abnormal atrial septum morphology	10651	MTX2	OMIM:619127
HP:0011994	Abnormal atrial septum morphology	1857	DVL3	OMIM:616894
HP:0011994	Abnormal atrial septum morphology	9739	SETD1A	OMIM:618832
HP:0011994	Abnormal atrial septum morphology	7291	TWIST1	OMIM:617746
HP:0011994	Abnormal atrial septum morphology	100506658	OCLN	OMIM:251290
HP:0011994	Abnormal atrial septum morphology	79971	WLS	OMIM:619648
HP:0011994	Abnormal atrial septum morphology	118924	FRA10AC1	OMIM:620113
HP:0011994	Abnormal atrial septum morphology	6123	RPL3L	OMIM:619371
HP:0011994	Abnormal atrial septum morphology	775	CACNA1C	OMIM:601005
HP:0011994	Abnormal atrial septum morphology	89970	RSPRY1	ORPHA:457395
HP:0011994	Abnormal atrial septum morphology	57479	PRR12	OMIM:619539
HP:0011994	Abnormal atrial septum morphology	4851	NOTCH1	OMIM:616028
HP:0011994	Abnormal atrial septum morphology	5879	RAC1	ORPHA:500159
HP:0011994	Abnormal atrial septum morphology	8295	TRRAP	OMIM:618454
HP:0011994	Abnormal atrial septum morphology	54101	RIPK4	OMIM:263650
HP:0011994	Abnormal atrial septum morphology	7319	UBE2A	ORPHA:163956
HP:0011994	Abnormal atrial septum morphology	699	BUB1	OMIM:620183
HP:0011994	Abnormal atrial septum morphology	91949	COG7	OMIM:608779
HP:0011994	Abnormal atrial septum morphology	8294	H4C9	OMIM:619951
HP:0011994	Abnormal atrial septum morphology	29081	METTL5	OMIM:618665
HP:0011994	Abnormal atrial septum morphology	7026	NR2F2	OMIM:618901
HP:0011994	Abnormal atrial septum morphology	6135	RPL11	OMIM:612562
HP:0011994	Abnormal atrial septum morphology	10765	KDM5B	OMIM:618109
HP:0011994	Abnormal atrial septum morphology	132	ADK	OMIM:614300
HP:0011994	Abnormal atrial septum morphology	5396	PRRX1	OMIM:202650
HP:0011994	Abnormal atrial septum morphology	490	ATP2B1	OMIM:619910
HP:0011994	Abnormal atrial septum morphology	2657	GDF1	OMIM:613854
HP:0011994	Abnormal atrial septum morphology	8364	H4C3	OMIM:619758
HP:0011994	Abnormal atrial septum morphology	1482	NKX2-5	OMIM:108900
HP:0011994	Abnormal atrial septum morphology	11128	POLR3A	OMIM:264090
HP:0011994	Abnormal atrial septum morphology	256297	PTF1A	OMIM:609069
HP:0011994	Abnormal atrial septum morphology	83475	DOHH	OMIM:620066
HP:0011994	Abnormal atrial septum morphology	55027	HEATR3	OMIM:620072
HP:0011994	Abnormal atrial septum morphology	79759	ZNF668	OMIM:620194
HP:0011994	Abnormal atrial septum morphology	285590	SH3PXD2B	OMIM:249420
HP:0011994	Abnormal atrial septum morphology	6472	SHMT2	OMIM:619121
HP:0011994	Abnormal atrial septum morphology	2627	GATA6	OMIM:614475
HP:0011994	Abnormal atrial septum morphology	80055	PGAP1	OMIM:615802
HP:0011994	Abnormal atrial septum morphology	471	ATIC	OMIM:608688
HP:0011994	Abnormal atrial septum morphology	3417	IDH1	ORPHA:99646
HP:0011994	Abnormal atrial septum morphology	4763	NF1	OMIM:601321
HP:0011994	Abnormal atrial septum morphology	79989	IFT56	OMIM:619534
HP:0011994	Abnormal atrial septum morphology	4624	MYH6	OMIM:614089
HP:0011994	Abnormal atrial septum morphology	8260	NAA10	OMIM:300855
HP:0011994	Abnormal atrial septum morphology	11274	USP18	OMIM:617397
HP:0011994	Abnormal atrial septum morphology	7994	KAT6A	OMIM:616268
HP:0011994	Abnormal atrial septum morphology	92579	G6PC3	OMIM:612541
HP:0011994	Abnormal atrial septum morphology	439	GET3	OMIM:620203
HP:0011994	Abnormal atrial septum morphology	9325	TRIP4	OMIM:616866
HP:0011994	Abnormal atrial septum morphology	10079	ATP9A	OMIM:620242
HP:0011994	Abnormal atrial septum morphology	6910	TBX5	OMIM:142900
HP:0011994	Abnormal atrial septum morphology	4212	MEIS2	OMIM:600987
HP:0011994	Abnormal atrial septum morphology	70	ACTC1	OMIM:612794
HP:0011994	Abnormal atrial septum morphology	55636	CHD7	OMIM:214800
HP:0011994	Abnormal atrial septum morphology	59336	PRDM13	OMIM:619909
HP:0011994	Abnormal atrial septum morphology	25790	CFAP45	OMIM:619608
HP:0011994	Abnormal atrial septum morphology	2072	ERCC4	OMIM:615272
HP:0011994	Abnormal atrial septum morphology	2626	GATA4	OMIM:614430
HP:0011994	Abnormal atrial septum morphology	1593	CYP27A1	ORPHA:909
HP:0011994	Abnormal atrial septum morphology	23545	ATP6V0A2	ORPHA:2834
HP:0011994	Abnormal atrial septum morphology	23545	ATP6V0A2	OMIM:278250
HP:0011994	Abnormal atrial septum morphology	9382	COG1	ORPHA:263508
HP:0011995	Atrial septal dilatation	23545	ATP6V0A2	ORPHA:2834
HP:0011995	Atrial septal dilatation	23545	ATP6V0A2	OMIM:278250
HP:0011995	Atrial septal dilatation	9382	COG1	ORPHA:263508
HP:0011996	Elevated coagulation factor V activity	191	AHCY	ORPHA:88618
HP:0011990	Abnormality of neutrophil physiology	4688	NCF2	OMIM:233710
HP:0011990	Abnormality of neutrophil physiology	79415	CYBC1	OMIM:618935
HP:0011990	Abnormality of neutrophil physiology	1536	CYBB	OMIM:306400
HP:0011990	Abnormality of neutrophil physiology	653361	NCF1	OMIM:233700
HP:0011990	Abnormality of neutrophil physiology	84888	SPPL2A	OMIM:619549
HP:0011990	Abnormality of neutrophil physiology	1535	CYBA	OMIM:233690
HP:0011990	Abnormality of neutrophil physiology	3394	IRF8	OMIM:226990
HP:0011990	Abnormality of neutrophil physiology	55343	SLC35C1	OMIM:266265
HP:0011990	Abnormality of neutrophil physiology	1130	LYST	ORPHA:167
HP:0011990	Abnormality of neutrophil physiology	5880	RAC2	ORPHA:183707
HP:0011990	Abnormality of neutrophil physiology	1053	CEBPE	OMIM:245480
HP:0011990	Abnormality of neutrophil physiology	2821	GPI	OMIM:613470
HP:0011990	Abnormality of neutrophil physiology	5373	PMM2	ORPHA:79318
HP:0011990	Abnormality of neutrophil physiology	3937	LCP2	OMIM:619374
HP:0011990	Abnormality of neutrophil physiology	134218	DNAJC21	ORPHA:811
HP:0011990	Abnormality of neutrophil physiology	79631	EFL1	ORPHA:811
HP:0011990	Abnormality of neutrophil physiology	51119	SBDS	ORPHA:811
HP:0011990	Abnormality of neutrophil physiology	6729	SRP54	ORPHA:811
HP:0011991	Abnormal neutrophil count	2672	GFI1	OMIM:607847
HP:0011991	Abnormal neutrophil count	2672	GFI1	OMIM:613107
HP:0011991	Abnormal neutrophil count	2672	GFI1	ORPHA:486
HP:0011991	Abnormal neutrophil count	4594	MMUT	ORPHA:289916
HP:0011991	Abnormal neutrophil count	4594	MMUT	OMIM:251000
HP:0011991	Abnormal neutrophil count	4594	MMUT	ORPHA:79312
HP:0011991	Abnormal neutrophil count	867	CBL	ORPHA:98850
HP:0011991	Abnormal neutrophil count	861	RUNX1	ORPHA:98850
HP:0011991	Abnormal neutrophil count	695	BTK	OMIM:300755
HP:0011991	Abnormal neutrophil count	695	BTK	ORPHA:47
HP:0011991	Abnormal neutrophil count	26235	FBXL4	OMIM:615471
HP:0011991	Abnormal neutrophil count	54892	NCAPG2	OMIM:618460
HP:0011991	Abnormal neutrophil count	23241	PACS2	OMIM:618067
HP:0011991	Abnormal neutrophil count	6948	TCN2	OMIM:275350
HP:0011991	Abnormal neutrophil count	6948	TCN2	ORPHA:859
HP:0011991	Abnormal neutrophil count	6218	RPS17	OMIM:612527
HP:0011991	Abnormal neutrophil count	6218	RPS17	ORPHA:124
HP:0011991	Abnormal neutrophil count	959	CD40LG	OMIM:308230
HP:0011991	Abnormal neutrophil count	23451	SF3B1	ORPHA:75564
HP:0011991	Abnormal neutrophil count	79650	USB1	OMIM:604173
HP:0011991	Abnormal neutrophil count	5551	PRF1	ORPHA:540
HP:0011991	Abnormal neutrophil count	5551	PRF1	ORPHA:88
HP:0011991	Abnormal neutrophil count	8676	STX11	ORPHA:540
HP:0011991	Abnormal neutrophil count	8676	STX11	OMIM:603552
HP:0011991	Abnormal neutrophil count	201294	UNC13D	ORPHA:540
HP:0011991	Abnormal neutrophil count	6813	STXBP2	ORPHA:540
HP:0011991	Abnormal neutrophil count	10559	SLC35A1	ORPHA:238459
HP:0011991	Abnormal neutrophil count	10559	SLC35A1	OMIM:603585
HP:0011991	Abnormal neutrophil count	54809	SAMD9	OMIM:619041
HP:0011991	Abnormal neutrophil count	114803	MYSM1	ORPHA:508542
HP:0011991	Abnormal neutrophil count	9948	WDR1	OMIM:150550
HP:0011991	Abnormal neutrophil count	2175	FANCA	OMIM:227650
HP:0011991	Abnormal neutrophil count	2120	ETV6	OMIM:616216
HP:0011991	Abnormal neutrophil count	55215	FANCI	OMIM:609053
HP:0011991	Abnormal neutrophil count	4552	MTRR	ORPHA:2169
HP:0011991	Abnormal neutrophil count	65082	VPS33A	OMIM:617303
HP:0011991	Abnormal neutrophil count	55788	LMBRD1	OMIM:277380
HP:0011991	Abnormal neutrophil count	55788	LMBRD1	ORPHA:79284
HP:0011991	Abnormal neutrophil count	973	CD79A	OMIM:613501
HP:0011991	Abnormal neutrophil count	973	CD79A	ORPHA:33110
HP:0011991	Abnormal neutrophil count	29760	BLNK	OMIM:613502
HP:0011991	Abnormal neutrophil count	29760	BLNK	ORPHA:33110
HP:0011991	Abnormal neutrophil count	1130	LYST	OMIM:214500
HP:0011991	Abnormal neutrophil count	1130	LYST	ORPHA:167
HP:0011991	Abnormal neutrophil count	9837	GINS1	OMIM:617827
HP:0011991	Abnormal neutrophil count	2122	MECOM	OMIM:616738
HP:0011991	Abnormal neutrophil count	7015	TERT	OMIM:613989
HP:0011991	Abnormal neutrophil count	7015	TERT	ORPHA:88
HP:0011991	Abnormal neutrophil count	331	XIAP	OMIM:308240
HP:0011991	Abnormal neutrophil count	4068	SH2D1A	OMIM:308240
HP:0011991	Abnormal neutrophil count	8029	CUBN	ORPHA:35858
HP:0011991	Abnormal neutrophil count	81693	AMN	ORPHA:35858
HP:0011991	Abnormal neutrophil count	7454	WAS	OMIM:300299
HP:0011991	Abnormal neutrophil count	7454	WAS	ORPHA:86788
HP:0011991	Abnormal neutrophil count	7454	WAS	ORPHA:906
HP:0011991	Abnormal neutrophil count	219285	SAMD9L	OMIM:159550
HP:0011991	Abnormal neutrophil count	54	ACP5	OMIM:607944
HP:0011991	Abnormal neutrophil count	3458	IFNG	ORPHA:88
HP:0011991	Abnormal neutrophil count	7012	TERC	ORPHA:88
HP:0011991	Abnormal neutrophil count	6023	RMRP	ORPHA:175
HP:0011991	Abnormal neutrophil count	6023	RMRP	OMIM:250250
HP:0011991	Abnormal neutrophil count	2530	FUT8	OMIM:618005
HP:0011991	Abnormal neutrophil count	7037	TFRC	OMIM:616740
HP:0011991	Abnormal neutrophil count	816	CAMK2B	OMIM:617799
HP:0011991	Abnormal neutrophil count	7852	CXCR4	OMIM:193670
HP:0011991	Abnormal neutrophil count	7852	CXCR4	ORPHA:51636
HP:0011991	Abnormal neutrophil count	92579	G6PC3	OMIM:612541
HP:0011991	Abnormal neutrophil count	28956	LAMTOR2	ORPHA:90023
HP:0011991	Abnormal neutrophil count	28956	LAMTOR2	OMIM:610798
HP:0011991	Abnormal neutrophil count	8546	AP3B1	OMIM:608233
HP:0011991	Abnormal neutrophil count	157680	VPS13B	OMIM:216550
HP:0011991	Abnormal neutrophil count	157680	VPS13B	ORPHA:193
HP:0011991	Abnormal neutrophil count	5095	PCCA	OMIM:606054
HP:0011991	Abnormal neutrophil count	5096	PCCB	OMIM:606054
HP:0011991	Abnormal neutrophil count	112812	FDX2	OMIM:251900
HP:0011991	Abnormal neutrophil count	958	CD40	OMIM:606843
HP:0011991	Abnormal neutrophil count	2178	FANCE	OMIM:600901
HP:0011991	Abnormal neutrophil count	4478	MSN	OMIM:300988
HP:0011991	Abnormal neutrophil count	546	ATRX	ORPHA:231401
HP:0011991	Abnormal neutrophil count	28755	TRAC	OMIM:615387
HP:0011991	Abnormal neutrophil count	4700	NDUFA6	OMIM:618253
HP:0011991	Abnormal neutrophil count	175	AGA	OMIM:208400
HP:0011991	Abnormal neutrophil count	113235	SLC46A1	OMIM:229050
HP:0011991	Abnormal neutrophil count	5826	ABCD4	OMIM:614857
HP:0011991	Abnormal neutrophil count	326625	MMAB	OMIM:251110
HP:0011991	Abnormal neutrophil count	5873	RAB27A	ORPHA:79477
HP:0011991	Abnormal neutrophil count	2328	FMO3	OMIM:602079
HP:0011991	Abnormal neutrophil count	8943	AP3D1	OMIM:617050
HP:0011991	Abnormal neutrophil count	3572	IL6ST	OMIM:619752
HP:0011991	Abnormal neutrophil count	2623	GATA1	OMIM:300835
HP:0011991	Abnormal neutrophil count	2623	GATA1	ORPHA:124
HP:0011991	Abnormal neutrophil count	29927	SEC61A1	OMIM:617056
HP:0011991	Abnormal neutrophil count	6135	RPL11	OMIM:612562
HP:0011991	Abnormal neutrophil count	6135	RPL11	ORPHA:124
HP:0011991	Abnormal neutrophil count	9401	RECQL4	ORPHA:221016
HP:0011991	Abnormal neutrophil count	6201	RPS7	OMIM:612563
HP:0011991	Abnormal neutrophil count	6201	RPS7	ORPHA:124
HP:0011991	Abnormal neutrophil count	6154	RPL26	OMIM:614900
HP:0011991	Abnormal neutrophil count	6154	RPL26	ORPHA:124
HP:0011991	Abnormal neutrophil count	7456	WIPF1	ORPHA:906
HP:0011991	Abnormal neutrophil count	8517	IKBKG	OMIM:301081
HP:0011991	Abnormal neutrophil count	6789	STK4	OMIM:614868
HP:0011991	Abnormal neutrophil count	4796	TONSL	ORPHA:93357
HP:0011991	Abnormal neutrophil count	4796	TONSL	OMIM:271510
HP:0011991	Abnormal neutrophil count	7036	TFR2	OMIM:604250
HP:0011991	Abnormal neutrophil count	166785	MMAA	OMIM:251100
HP:0011991	Abnormal neutrophil count	3507	IGHM	OMIM:601495
HP:0011991	Abnormal neutrophil count	3507	IGHM	ORPHA:33110
HP:0011991	Abnormal neutrophil count	25839	COG4	OMIM:618150
HP:0011991	Abnormal neutrophil count	3575	IL7R	ORPHA:169154
HP:0011991	Abnormal neutrophil count	6141	RPL18	OMIM:618310
HP:0011991	Abnormal neutrophil count	6141	RPL18	ORPHA:124
HP:0011991	Abnormal neutrophil count	3845	KRAS	OMIM:614470
HP:0011991	Abnormal neutrophil count	4893	NRAS	OMIM:614470
HP:0011991	Abnormal neutrophil count	150274	HSCB	OMIM:619523
HP:0011991	Abnormal neutrophil count	11311	VPS45	OMIM:615285
HP:0011991	Abnormal neutrophil count	50485	SMARCAL1	ORPHA:1830
HP:0011991	Abnormal neutrophil count	50485	SMARCAL1	OMIM:242900
HP:0011991	Abnormal neutrophil count	57724	EPG5	OMIM:242840
HP:0011991	Abnormal neutrophil count	2937	GSS	OMIM:266130
HP:0011991	Abnormal neutrophil count	2177	FANCD2	OMIM:227646
HP:0011991	Abnormal neutrophil count	2176	FANCC	OMIM:227645
HP:0011991	Abnormal neutrophil count	2189	FANCG	OMIM:614082
HP:0011991	Abnormal neutrophil count	6603	SMARCD2	OMIM:617475
HP:0011991	Abnormal neutrophil count	84522	JAGN1	OMIM:616022
HP:0011991	Abnormal neutrophil count	5295	PIK3R1	OMIM:615214
HP:0011991	Abnormal neutrophil count	5295	PIK3R1	ORPHA:33110
HP:0011991	Abnormal neutrophil count	4194	MDM4	OMIM:618849
HP:0011991	Abnormal neutrophil count	25974	MMACHC	ORPHA:79282
HP:0011991	Abnormal neutrophil count	25974	MMACHC	OMIM:277400
HP:0011991	Abnormal neutrophil count	3930	LBR	OMIM:169400
HP:0011991	Abnormal neutrophil count	51567	TDP2	OMIM:616949
HP:0011991	Abnormal neutrophil count	404672	GTF2H5	ORPHA:33364
HP:0011991	Abnormal neutrophil count	404672	GTF2H5	OMIM:616395
HP:0011991	Abnormal neutrophil count	833	CARS1	ORPHA:33364
HP:0011991	Abnormal neutrophil count	2068	ERCC2	ORPHA:33364
HP:0011991	Abnormal neutrophil count	7737	RNF113A	ORPHA:33364
HP:0011991	Abnormal neutrophil count	136647	MPLKIP	ORPHA:33364
HP:0011991	Abnormal neutrophil count	6897	TARS1	ORPHA:33364
HP:0011991	Abnormal neutrophil count	2071	ERCC3	ORPHA:33364
HP:0011991	Abnormal neutrophil count	2961	GTF2E2	ORPHA:33364
HP:0011991	Abnormal neutrophil count	9451	EIF2AK3	ORPHA:1667
HP:0011991	Abnormal neutrophil count	6223	RPS19	OMIM:105650
HP:0011991	Abnormal neutrophil count	6223	RPS19	ORPHA:124
HP:0011991	Abnormal neutrophil count	51311	TLR8	OMIM:301078
HP:0011991	Abnormal neutrophil count	10312	TCIRG1	ORPHA:486
HP:0011991	Abnormal neutrophil count	6138	RPL15	ORPHA:124
HP:0011991	Abnormal neutrophil count	6229	RPS24	ORPHA:124
HP:0011991	Abnormal neutrophil count	6125	RPL5	ORPHA:124
HP:0011991	Abnormal neutrophil count	6204	RPS10	ORPHA:124
HP:0011991	Abnormal neutrophil count	6224	RPS20	ORPHA:124
HP:0011991	Abnormal neutrophil count	6165	RPL35A	ORPHA:124
HP:0011991	Abnormal neutrophil count	6232	RPS27	ORPHA:124
HP:0011991	Abnormal neutrophil count	6231	RPS26	ORPHA:124
HP:0011991	Abnormal neutrophil count	11224	RPL35	ORPHA:124
HP:0011991	Abnormal neutrophil count	6160	RPL31	ORPHA:124
HP:0011991	Abnormal neutrophil count	6155	RPL27	ORPHA:124
HP:0011991	Abnormal neutrophil count	6210	RPS15A	ORPHA:124
HP:0011991	Abnormal neutrophil count	90121	TSR2	ORPHA:124
HP:0011991	Abnormal neutrophil count	6235	RPS29	ORPHA:124
HP:0011991	Abnormal neutrophil count	6234	RPS28	ORPHA:124
HP:0011991	Abnormal neutrophil count	51816	ADA2	ORPHA:124
HP:0011991	Abnormal neutrophil count	5371	PML	ORPHA:520
HP:0011991	Abnormal neutrophil count	5914	RARA	ORPHA:520
HP:0011991	Abnormal neutrophil count	359948	IRF2BP2	ORPHA:520
HP:0011991	Abnormal neutrophil count	81608	FIP1L1	ORPHA:520
HP:0011991	Abnormal neutrophil count	4869	NPM1	ORPHA:520
HP:0011991	Abnormal neutrophil count	5573	PRKAR1A	ORPHA:520
HP:0011991	Abnormal neutrophil count	54880	BCOR	ORPHA:520
HP:0011991	Abnormal neutrophil count	64859	NABP1	ORPHA:520
HP:0011991	Abnormal neutrophil count	6777	STAT5B	ORPHA:520
HP:0011991	Abnormal neutrophil count	4926	NUMA1	ORPHA:520
HP:0011991	Abnormal neutrophil count	7704	ZBTB16	ORPHA:520
HP:0011991	Abnormal neutrophil count	79718	TBL1XR1	ORPHA:520
HP:0011991	Abnormal neutrophil count	10459	MAD2L2	OMIM:617243
HP:0011991	Abnormal neutrophil count	96459	FNIP1	OMIM:619705
HP:0011991	Abnormal neutrophil count	27429	HTRA2	OMIM:617248
HP:0011991	Abnormal neutrophil count	7319	UBE2A	ORPHA:163956
HP:0011991	Abnormal neutrophil count	55294	FBXW7	OMIM:620012
HP:0011991	Abnormal neutrophil count	5052	PRDX1	OMIM:277400
HP:0011991	Abnormal neutrophil count	10456	HAX1	OMIM:610738
HP:0011991	Abnormal neutrophil count	6929	TCF3	ORPHA:33110
HP:0011991	Abnormal neutrophil count	974	CD79B	ORPHA:33110
HP:0011991	Abnormal neutrophil count	3543	IGLL1	ORPHA:33110
HP:0011991	Abnormal neutrophil count	56262	LRRC8A	ORPHA:33110
HP:0011991	Abnormal neutrophil count	64682	ANAPC1	ORPHA:221008
HP:0011991	Abnormal neutrophil count	5896	RAG1	ORPHA:231154
HP:0011991	Abnormal neutrophil count	2215	FCGR3B	ORPHA:464370
HP:0011991	Abnormal neutrophil count	355	FAS	ORPHA:3261
HP:0011991	Abnormal neutrophil count	355	FAS	OMIM:601859
HP:0011991	Abnormal neutrophil count	356	FASLG	ORPHA:3261
HP:0011991	Abnormal neutrophil count	356	FASLG	OMIM:601859
HP:0011991	Abnormal neutrophil count	5580	PRKCD	ORPHA:3261
HP:0011991	Abnormal neutrophil count	843	CASP10	ORPHA:3261
HP:0011991	Abnormal neutrophil count	843	CASP10	OMIM:603909
HP:0011991	Abnormal neutrophil count	10125	RASGRP1	ORPHA:3261
HP:0011991	Abnormal neutrophil count	5994	RFXAP	ORPHA:572
HP:0011991	Abnormal neutrophil count	4261	CIITA	ORPHA:572
HP:0011991	Abnormal neutrophil count	5993	RFX5	ORPHA:572
HP:0011991	Abnormal neutrophil count	8625	RFXANK	ORPHA:572
HP:0011991	Abnormal neutrophil count	6772	STAT1	ORPHA:391487
HP:0011991	Abnormal neutrophil count	10043	TOM1	ORPHA:391487
HP:0011991	Abnormal neutrophil count	7174	TPP2	OMIM:619220
HP:0011991	Abnormal neutrophil count	6774	STAT3	OMIM:615952
HP:0011991	Abnormal neutrophil count	50943	FOXP3	ORPHA:37042
HP:0011991	Abnormal neutrophil count	4860	PNP	OMIM:613179
HP:0011991	Abnormal neutrophil count	5238	PGM3	ORPHA:443811
HP:0011991	Abnormal neutrophil count	5294	PIK3CG	OMIM:619802
HP:0011991	Abnormal neutrophil count	54440	SASH3	OMIM:301082
HP:0011991	Abnormal neutrophil count	83737	ITCH	ORPHA:228426
HP:0011991	Abnormal neutrophil count	29851	ICOS	OMIM:607594
HP:0011991	Abnormal neutrophil count	90268	OTULIN	OMIM:617099
HP:0011991	Abnormal neutrophil count	3394	IRF8	OMIM:226990
HP:0011991	Abnormal neutrophil count	4598	MVK	OMIM:260920
HP:0011991	Abnormal neutrophil count	171023	ASXL1	ORPHA:98849
HP:0011991	Abnormal neutrophil count	54790	TET2	ORPHA:98849
HP:0011991	Abnormal neutrophil count	3815	KIT	ORPHA:98849
HP:0011991	Abnormal neutrophil count	6427	SRSF2	ORPHA:98849
HP:0011991	Abnormal neutrophil count	26525	IL36RN	OMIM:614204
HP:0011991	Abnormal neutrophil count	4210	MEFV	ORPHA:3243
HP:0011991	Abnormal neutrophil count	4210	MEFV	OMIM:249100
HP:0011991	Abnormal neutrophil count	1441	CSF3R	OMIM:162830
HP:0011991	Abnormal neutrophil count	55343	SLC35C1	OMIM:266265
HP:0011991	Abnormal neutrophil count	55343	SLC35C1	ORPHA:99843
HP:0011991	Abnormal neutrophil count	5293	PIK3CD	OMIM:619281
HP:0011991	Abnormal neutrophil count	57169	ZNFX1	OMIM:619644
HP:0011991	Abnormal neutrophil count	5971	RELB	OMIM:617585
HP:0011991	Abnormal neutrophil count	3557	IL1RN	OMIM:612852
HP:0011991	Abnormal neutrophil count	5880	RAC2	OMIM:608203
HP:0011991	Abnormal neutrophil count	7187	TRAF3	ORPHA:1930
HP:0011991	Abnormal neutrophil count	81622	UNC93B1	ORPHA:1930
HP:0011991	Abnormal neutrophil count	148022	TICAM1	ORPHA:1930
HP:0011991	Abnormal neutrophil count	7098	TLR3	ORPHA:1930
HP:0011991	Abnormal neutrophil count	29110	TBK1	ORPHA:1930
HP:0011991	Abnormal neutrophil count	1053	CEBPE	OMIM:245480
HP:0011991	Abnormal neutrophil count	2624	GATA2	ORPHA:3226
HP:0011991	Abnormal neutrophil count	6901	TAFAZZIN	OMIM:302060
HP:0011991	Abnormal neutrophil count	1991	ELANE	OMIM:162800
HP:0011991	Abnormal neutrophil count	1991	ELANE	ORPHA:2686
HP:0011991	Abnormal neutrophil count	3579	CXCR2	OMIM:619407
HP:0011991	Abnormal neutrophil count	987	LRBA	OMIM:614700
HP:0011991	Abnormal neutrophil count	51645	PPIL1	OMIM:619301
HP:0011991	Abnormal neutrophil count	51362	CDC40	OMIM:619302
HP:0011991	Abnormal neutrophil count	2542	SLC37A4	ORPHA:79259
HP:0011991	Abnormal neutrophil count	9158	FIBP	OMIM:617107
HP:0011991	Abnormal neutrophil count	9158	FIBP	ORPHA:500095
HP:0011991	Abnormal neutrophil count	6688	SPI1	OMIM:619707
HP:0011991	Abnormal neutrophil count	51135	IRAK4	OMIM:607676
HP:0011991	Abnormal neutrophil count	134218	DNAJC21	ORPHA:811
HP:0011991	Abnormal neutrophil count	79631	EFL1	ORPHA:811
HP:0011991	Abnormal neutrophil count	51119	SBDS	ORPHA:811
HP:0011991	Abnormal neutrophil count	6729	SRP54	ORPHA:811
HP:0011991	Abnormal neutrophil count	81570	CLPB	ORPHA:445038
HP:0011992	Abnormality of neutrophil morphology	10841	FTCD	OMIM:229100
HP:0011992	Abnormality of neutrophil morphology	119559	SFXN4	OMIM:615578
HP:0011992	Abnormality of neutrophil morphology	8029	CUBN	ORPHA:35858
HP:0011992	Abnormality of neutrophil morphology	81693	AMN	ORPHA:35858
HP:0011992	Abnormality of neutrophil morphology	6573	SLC19A1	OMIM:601775
HP:0011992	Abnormality of neutrophil morphology	4522	MTHFD1	OMIM:617780
HP:0011992	Abnormality of neutrophil morphology	51594	NBAS	OMIM:614800
HP:0011992	Abnormality of neutrophil morphology	3930	LBR	OMIM:169400
HP:0011992	Abnormality of neutrophil morphology	3930	LBR	OMIM:618019
HP:0011992	Abnormality of neutrophil morphology	54790	TET2	ORPHA:75564
HP:0011992	Abnormality of neutrophil morphology	23451	SF3B1	ORPHA:75564
HP:0011992	Abnormality of neutrophil morphology	10430	TMEM147	OMIM:620075
HP:0011992	Abnormality of neutrophil morphology	7852	CXCR4	ORPHA:51636
HP:0011992	Abnormality of neutrophil morphology	6208	RPS14	ORPHA:86841
HP:0011992	Abnormality of neutrophil morphology	1053	CEBPE	OMIM:245480
HP:0011992	Abnormality of neutrophil morphology	6603	SMARCD2	OMIM:617475
HP:0011992	Abnormality of neutrophil morphology	1130	LYST	OMIM:214500
HP:0011992	Abnormality of neutrophil morphology	4627	MYH9	OMIM:155100
HP:0008940	Generalized lymphadenopathy	3123	HLA-DRB1	OMIM:181000
HP:0008940	Generalized lymphadenopathy	5580	PRKCD	OMIM:615559
HP:0008940	Generalized lymphadenopathy	5880	RAC2	OMIM:618986
HP:0008940	Generalized lymphadenopathy	3459	IFNGR1	OMIM:615978
HP:0008940	Generalized lymphadenopathy	64135	IFIH1	OMIM:615846
HP:0008940	Generalized lymphadenopathy	987	LRBA	OMIM:614700
HP:0008940	Generalized lymphadenopathy	4773	NFATC2	OMIM:620232
HP:0008940	Generalized lymphadenopathy	165918	RNF168	ORPHA:420741
HP:0008940	Generalized lymphadenopathy	64421	DCLRE1C	OMIM:602450
HP:0008942	Acute rhabdomyolysis	23175	LPIN1	OMIM:268200
HP:0008942	Acute rhabdomyolysis	9150	CTDP1	OMIM:604168
HP:0008942	Acute rhabdomyolysis	9150	CTDP1	ORPHA:48431
HP:0008942	Acute rhabdomyolysis	128989	TANGO2	OMIM:616878
HP:0008942	Acute rhabdomyolysis	128989	TANGO2	ORPHA:480864
HP:0008942	Acute rhabdomyolysis	779	CACNA1S	ORPHA:423
HP:0008942	Acute rhabdomyolysis	6261	RYR1	ORPHA:423
HP:0001780	Abnormal toe morphology	23111	SPART	OMIM:275900
HP:0001780	Abnormal toe morphology	65260	COA7	OMIM:618387
HP:0001780	Abnormal toe morphology	5376	PMP22	OMIM:118300
HP:0001780	Abnormal toe morphology	5376	PMP22	OMIM:118220
HP:0001780	Abnormal toe morphology	5376	PMP22	OMIM:180800
HP:0001780	Abnormal toe morphology	5376	PMP22	ORPHA:90658
HP:0001780	Abnormal toe morphology	5376	PMP22	OMIM:145900
HP:0001780	Abnormal toe morphology	127833	SYT2	OMIM:616040
HP:0001780	Abnormal toe morphology	112	ADCY6	OMIM:616287
HP:0001780	Abnormal toe morphology	7415	VCP	ORPHA:435387
HP:0001780	Abnormal toe morphology	7415	VCP	OMIM:616687
HP:0001780	Abnormal toe morphology	1861	TOR1A	OMIM:618947
HP:0001780	Abnormal toe morphology	9927	MFN2	OMIM:609260
HP:0001780	Abnormal toe morphology	50717	DCAF8	OMIM:610100
HP:0001780	Abnormal toe morphology	4897	NRCAM	OMIM:619833
HP:0001780	Abnormal toe morphology	2617	GARS1	ORPHA:139536
HP:0001780	Abnormal toe morphology	2617	GARS1	OMIM:600794
HP:0001780	Abnormal toe morphology	2617	GARS1	OMIM:601472
HP:0001780	Abnormal toe morphology	26580	BSCL2	ORPHA:139536
HP:0001780	Abnormal toe morphology	65055	REEP1	ORPHA:139536
HP:0001780	Abnormal toe morphology	4747	NEFL	OMIM:607684
HP:0001780	Abnormal toe morphology	4359	MPZ	OMIM:180800
HP:0001780	Abnormal toe morphology	4359	MPZ	OMIM:118200
HP:0001780	Abnormal toe morphology	4359	MPZ	OMIM:145900
HP:0001780	Abnormal toe morphology	7879	RAB7A	OMIM:600882
HP:0001780	Abnormal toe morphology	10397	NDRG1	OMIM:601455
HP:0001780	Abnormal toe morphology	10397	NDRG1	ORPHA:99950
HP:0001780	Abnormal toe morphology	5375	PMP2	OMIM:618279
HP:0001780	Abnormal toe morphology	23095	KIF1B	OMIM:118210
HP:0001780	Abnormal toe morphology	8566	PDXK	OMIM:618511
HP:0001780	Abnormal toe morphology	400916	CHCHD10	OMIM:615048
HP:0001780	Abnormal toe morphology	3035	HARS1	ORPHA:488333
HP:0001780	Abnormal toe morphology	3035	HARS1	OMIM:616625
HP:0001780	Abnormal toe morphology	90678	LRSAM1	OMIM:614436
HP:0001780	Abnormal toe morphology	11261	CHP1	OMIM:618438
HP:0001780	Abnormal toe morphology	3710	ITPR3	OMIM:620111
HP:0001780	Abnormal toe morphology	81846	SBF2	OMIM:604563
HP:0001780	Abnormal toe morphology	26278	SACS	OMIM:270550
HP:0001780	Abnormal toe morphology	10280	SIGMAR1	OMIM:605726
HP:0001780	Abnormal toe morphology	5264	PHYH	ORPHA:773
HP:0001780	Abnormal toe morphology	5191	PEX7	ORPHA:773
HP:0001780	Abnormal toe morphology	22880	MORC2	OMIM:619090
HP:0001780	Abnormal toe morphology	4358	MPV17	OMIM:618400
HP:0001780	Abnormal toe morphology	57449	PLEKHG5	OMIM:615376
HP:0001780	Abnormal toe morphology	3295	HSD17B4	OMIM:261515
HP:0001780	Abnormal toe morphology	79628	SH3TC2	OMIM:601596
HP:0001780	Abnormal toe morphology	79628	SH3TC2	ORPHA:99949
HP:0001780	Abnormal toe morphology	59345	GNB4	OMIM:615185
HP:0001780	Abnormal toe morphology	64423	INF2	OMIM:614455
HP:0001780	Abnormal toe morphology	16	AARS1	OMIM:613287
HP:0001780	Abnormal toe morphology	54332	GDAP1	ORPHA:99948
HP:0001780	Abnormal toe morphology	54332	GDAP1	OMIM:214400
HP:0001780	Abnormal toe morphology	54332	GDAP1	OMIM:608340
HP:0001780	Abnormal toe morphology	1959	EGR2	OMIM:145900
HP:0001780	Abnormal toe morphology	57716	PRX	OMIM:145900
HP:0001780	Abnormal toe morphology	23443	SLC35A3	ORPHA:370943
HP:0001780	Abnormal toe morphology	168667	BMPER	OMIM:608022
HP:0001780	Abnormal toe morphology	8729	GBF1	OMIM:606483
HP:0001780	Abnormal toe morphology	341640	FREM2	ORPHA:2052
HP:0001780	Abnormal toe morphology	80144	FRAS1	ORPHA:2052
HP:0001780	Abnormal toe morphology	55869	HDAC8	OMIM:300882
HP:0001780	Abnormal toe morphology	55869	HDAC8	ORPHA:199
HP:0001780	Abnormal toe morphology	117581	TWIST2	OMIM:200110
HP:0001780	Abnormal toe morphology	117581	TWIST2	ORPHA:920
HP:0001780	Abnormal toe morphology	3020	H3-3A	OMIM:619720
HP:0001780	Abnormal toe morphology	9790	BMS1	ORPHA:1114
HP:0001780	Abnormal toe morphology	5339	PLEC	ORPHA:1114
HP:0001780	Abnormal toe morphology	10054	UBA2	ORPHA:1114
HP:0001780	Abnormal toe morphology	3691	ITGB4	ORPHA:1114
HP:0001780	Abnormal toe morphology	2314	FLII	ORPHA:819
HP:0001780	Abnormal toe morphology	23096	IQSEC2	ORPHA:819
HP:0001780	Abnormal toe morphology	23096	IQSEC2	ORPHA:217377
HP:0001780	Abnormal toe morphology	9126	SMC3	OMIM:610759
HP:0001780	Abnormal toe morphology	9126	SMC3	ORPHA:199
HP:0001780	Abnormal toe morphology	7021	TFAP2B	ORPHA:46627
HP:0001780	Abnormal toe morphology	2019	EN1	OMIM:619218
HP:0001780	Abnormal toe morphology	2192	FBLN1	OMIM:608180
HP:0001780	Abnormal toe morphology	26227	PHGDH	OMIM:256520
HP:0001780	Abnormal toe morphology	23476	BRD4	ORPHA:199
HP:0001780	Abnormal toe morphology	374879	ZNF699	OMIM:619488
HP:0001780	Abnormal toe morphology	28957	MRPS28	OMIM:618958
HP:0001780	Abnormal toe morphology	2255	FGF10	ORPHA:2363
HP:0001780	Abnormal toe morphology	407975	MIR17HG	ORPHA:391646
HP:0001780	Abnormal toe morphology	2767	GNA11	ORPHA:1556
HP:0001780	Abnormal toe morphology	151188	ARL6IP6	ORPHA:1556
HP:0001780	Abnormal toe morphology	3664	IRF6	ORPHA:1300
HP:0001780	Abnormal toe morphology	4087	SMAD2	OMIM:619657
HP:0001780	Abnormal toe morphology	29968	PSAT1	OMIM:616038
HP:0001780	Abnormal toe morphology	3845	KRAS	OMIM:163200
HP:0001780	Abnormal toe morphology	4893	NRAS	OMIM:163200
HP:0001780	Abnormal toe morphology	3265	HRAS	OMIM:163200
HP:0001780	Abnormal toe morphology	57465	TBC1D24	ORPHA:79500
HP:0001780	Abnormal toe morphology	25923	ATL3	OMIM:615632
HP:0001780	Abnormal toe morphology	6938	TCF12	OMIM:615314
HP:0001780	Abnormal toe morphology	6804	STX1A	ORPHA:904
HP:0001780	Abnormal toe morphology	7461	CLIP2	ORPHA:904
HP:0001780	Abnormal toe morphology	84277	DNAJC30	ORPHA:904
HP:0001780	Abnormal toe morphology	8468	FKBP6	ORPHA:904
HP:0001780	Abnormal toe morphology	5982	RFC2	ORPHA:904
HP:0001780	Abnormal toe morphology	2969	GTF2I	ORPHA:904
HP:0001780	Abnormal toe morphology	3984	LIMK1	ORPHA:904
HP:0001780	Abnormal toe morphology	9569	GTF2IRD1	ORPHA:904
HP:0001780	Abnormal toe morphology	155382	VPS37D	ORPHA:904
HP:0001780	Abnormal toe morphology	155368	METTL27	ORPHA:904
HP:0001780	Abnormal toe morphology	114049	BUD23	ORPHA:904
HP:0001780	Abnormal toe morphology	7458	EIF4H	ORPHA:904
HP:0001780	Abnormal toe morphology	84163	GTF2IRD2	ORPHA:904
HP:0001780	Abnormal toe morphology	9275	BCL7B	ORPHA:904
HP:0001780	Abnormal toe morphology	26608	TBL2	ORPHA:904
HP:0001780	Abnormal toe morphology	653361	NCF1	ORPHA:904
HP:0001780	Abnormal toe morphology	135886	TMEM270	ORPHA:904
HP:0001780	Abnormal toe morphology	51085	MLXIPL	ORPHA:904
HP:0001780	Abnormal toe morphology	51085	MLXIPL	OMIM:194050
HP:0001780	Abnormal toe morphology	9031	BAZ1B	ORPHA:904
HP:0001780	Abnormal toe morphology	2006	ELN	ORPHA:904
HP:0001780	Abnormal toe morphology	2006	ELN	OMIM:194050
HP:0001780	Abnormal toe morphology	57122	NUP107	OMIM:618348
HP:0001780	Abnormal toe morphology	10283	CWC27	ORPHA:166035
HP:0001780	Abnormal toe morphology	5728	PTEN	ORPHA:744
HP:0001780	Abnormal toe morphology	207	AKT1	ORPHA:744
HP:0001780	Abnormal toe morphology	2077	ERF	OMIM:617180
HP:0001780	Abnormal toe morphology	6567	SLC16A2	OMIM:300523
HP:0001780	Abnormal toe morphology	4841	NONO	OMIM:300967
HP:0001780	Abnormal toe morphology	4841	NONO	ORPHA:466791
HP:0001780	Abnormal toe morphology	56098	PCDHGC4	OMIM:619880
HP:0001780	Abnormal toe morphology	83737	ITCH	OMIM:613385
HP:0001780	Abnormal toe morphology	6662	SOX9	OMIM:114290
HP:0001780	Abnormal toe morphology	55780	ERMARD	ORPHA:75857
HP:0001780	Abnormal toe morphology	2273	FHL1	OMIM:300280
HP:0001780	Abnormal toe morphology	11107	PRDM5	ORPHA:90354
HP:0001780	Abnormal toe morphology	84627	ZNF469	ORPHA:90354
HP:0001780	Abnormal toe morphology	4784	NFIX	OMIM:602535
HP:0001780	Abnormal toe morphology	2629	GBA1	ORPHA:2072
HP:0001780	Abnormal toe morphology	7874	USP7	OMIM:616863
HP:0001780	Abnormal toe morphology	6792	CDKL5	ORPHA:505652
HP:0001780	Abnormal toe morphology	1277	COL1A1	OMIM:130060
HP:0001780	Abnormal toe morphology	6736	SRY	ORPHA:1772
HP:0001780	Abnormal toe morphology	526	ATP6V1B2	ORPHA:3473
HP:0001780	Abnormal toe morphology	79600	TCTN1	ORPHA:475
HP:0001780	Abnormal toe morphology	79848	CSPP1	ORPHA:475
HP:0001780	Abnormal toe morphology	51684	SUFU	ORPHA:475
HP:0001780	Abnormal toe morphology	54806	AHI1	ORPHA:475
HP:0001780	Abnormal toe morphology	54806	AHI1	ORPHA:220493
HP:0001780	Abnormal toe morphology	153241	CEP120	ORPHA:475
HP:0001780	Abnormal toe morphology	153241	CEP120	ORPHA:220493
HP:0001780	Abnormal toe morphology	91147	TMEM67	ORPHA:475
HP:0001780	Abnormal toe morphology	200894	ARL13B	ORPHA:475
HP:0001780	Abnormal toe morphology	9731	CEP104	ORPHA:475
HP:0001780	Abnormal toe morphology	23247	KATNIP	ORPHA:475
HP:0001780	Abnormal toe morphology	219854	TMEM218	ORPHA:475
HP:0001780	Abnormal toe morphology	54903	MKS1	ORPHA:475
HP:0001780	Abnormal toe morphology	54903	MKS1	OMIM:249000
HP:0001780	Abnormal toe morphology	54903	MKS1	ORPHA:220493
HP:0001780	Abnormal toe morphology	95681	CEP41	ORPHA:475
HP:0001780	Abnormal toe morphology	95681	CEP41	ORPHA:220493
HP:0001780	Abnormal toe morphology	9786	KIAA0586	ORPHA:475
HP:0001780	Abnormal toe morphology	56623	INPP5E	ORPHA:475
HP:0001780	Abnormal toe morphology	56623	INPP5E	ORPHA:220493
HP:0001780	Abnormal toe morphology	79867	TCTN2	ORPHA:475
HP:0001780	Abnormal toe morphology	80776	B9D2	ORPHA:475
HP:0001780	Abnormal toe morphology	10464	PIBF1	ORPHA:475
HP:0001780	Abnormal toe morphology	80210	ARMC9	ORPHA:475
HP:0001780	Abnormal toe morphology	23116	TOGARAM1	ORPHA:475
HP:0001780	Abnormal toe morphology	25776	CBY1	ORPHA:475
HP:0001780	Abnormal toe morphology	27077	B9D1	ORPHA:475
HP:0001780	Abnormal toe morphology	403	ARL3	ORPHA:475
HP:0001780	Abnormal toe morphology	65062	TMEM237	ORPHA:475
HP:0001780	Abnormal toe morphology	65062	TMEM237	ORPHA:2318
HP:0001780	Abnormal toe morphology	84100	ARL6	OMIM:209900
HP:0001780	Abnormal toe morphology	79140	CCDC28B	OMIM:209900
HP:0001780	Abnormal toe morphology	582	BBS1	OMIM:209900
HP:0001780	Abnormal toe morphology	5590	PRKCZ	ORPHA:1606
HP:0001780	Abnormal toe morphology	2563	GABRD	ORPHA:1606
HP:0001780	Abnormal toe morphology	23013	SPEN	ORPHA:1606
HP:0001780	Abnormal toe morphology	8510	MMP23B	ORPHA:1606
HP:0001780	Abnormal toe morphology	7798	LUZP1	ORPHA:1606
HP:0001780	Abnormal toe morphology	6497	SKI	ORPHA:1606
HP:0001780	Abnormal toe morphology	10630	PDPN	ORPHA:1606
HP:0001780	Abnormal toe morphology	10277	UBE4B	ORPHA:1606
HP:0001780	Abnormal toe morphology	8514	KCNAB2	ORPHA:1606
HP:0001780	Abnormal toe morphology	473	RERE	ORPHA:1606
HP:0001780	Abnormal toe morphology	63976	PRDM16	ORPHA:1606
HP:0001780	Abnormal toe morphology	54897	CASZ1	ORPHA:1606
HP:0001780	Abnormal toe morphology	8481	OFD1	ORPHA:2750
HP:0001780	Abnormal toe morphology	8481	OFD1	ORPHA:2754
HP:0001780	Abnormal toe morphology	1312	COMT	ORPHA:567
HP:0001780	Abnormal toe morphology	221037	JMJD1C	ORPHA:567
HP:0001780	Abnormal toe morphology	2812	GP1BB	ORPHA:567
HP:0001780	Abnormal toe morphology	6239	RREB1	ORPHA:567
HP:0001780	Abnormal toe morphology	6899	TBX1	ORPHA:567
HP:0001780	Abnormal toe morphology	7290	HIRA	ORPHA:567
HP:0001780	Abnormal toe morphology	9632	SEC24C	ORPHA:567
HP:0001780	Abnormal toe morphology	7353	UFD1	ORPHA:567
HP:0001780	Abnormal toe morphology	421	ARVCF	ORPHA:567
HP:0001780	Abnormal toe morphology	51524	TMEM138	ORPHA:2318
HP:0001780	Abnormal toe morphology	23090	ZNF423	ORPHA:2318
HP:0001780	Abnormal toe morphology	80184	CEP290	ORPHA:2318
HP:0001780	Abnormal toe morphology	51259	TMEM216	ORPHA:2318
HP:0001780	Abnormal toe morphology	51259	TMEM216	ORPHA:2754
HP:0001780	Abnormal toe morphology	57545	CC2D2A	ORPHA:2318
HP:0001780	Abnormal toe morphology	10210	TOPORS	ORPHA:2754
HP:0001780	Abnormal toe morphology	26123	TCTN3	ORPHA:2754
HP:0001780	Abnormal toe morphology	26123	TCTN3	OMIM:258860
HP:0001780	Abnormal toe morphology	317662	FAM149B1	ORPHA:2754
HP:0001780	Abnormal toe morphology	5566	PRKACA	ORPHA:289
HP:0001780	Abnormal toe morphology	5567	PRKACB	ORPHA:289
HP:0001780	Abnormal toe morphology	2735	GLI1	ORPHA:289
HP:0001780	Abnormal toe morphology	2121	EVC	ORPHA:289
HP:0001780	Abnormal toe morphology	51626	DYNC2LI1	ORPHA:289
HP:0001780	Abnormal toe morphology	132884	EVC2	ORPHA:289
HP:0001780	Abnormal toe morphology	6469	SHH	ORPHA:93405
HP:0001780	Abnormal toe morphology	26154	ABCA12	ORPHA:457
HP:0001780	Abnormal toe morphology	2137	EXTL3	ORPHA:508533
HP:0001780	Abnormal toe morphology	55112	DYNC2I1	ORPHA:474
HP:0001780	Abnormal toe morphology	57560	IFT80	ORPHA:474
HP:0001780	Abnormal toe morphology	79659	DYNC2H1	ORPHA:474
HP:0001780	Abnormal toe morphology	9742	IFT140	ORPHA:474
HP:0001780	Abnormal toe morphology	57728	WDR19	ORPHA:474
HP:0001780	Abnormal toe morphology	89891	DYNC2I2	ORPHA:474
HP:0001780	Abnormal toe morphology	79809	TTC21B	ORPHA:474
HP:0001780	Abnormal toe morphology	6309	SC5D	ORPHA:46059
HP:0001780	Abnormal toe morphology	6309	SC5D	OMIM:607330
HP:0001780	Abnormal toe morphology	54585	LZTFL1	OMIM:615994
HP:0001780	Abnormal toe morphology	79005	SCNM1	OMIM:620107
HP:0001780	Abnormal toe morphology	79770	TXNDC15	OMIM:619879
HP:0001780	Abnormal toe morphology	79770	TXNDC15	ORPHA:564
HP:0001780	Abnormal toe morphology	55593	OTUD5	OMIM:301056
HP:0001780	Abnormal toe morphology	23322	RPGRIP1L	OMIM:611561
HP:0001780	Abnormal toe morphology	23322	RPGRIP1L	ORPHA:564
HP:0001780	Abnormal toe morphology	9373	PLAA	ORPHA:521426
HP:0001780	Abnormal toe morphology	10225	CD96	OMIM:211750
HP:0001780	Abnormal toe morphology	3930	LBR	OMIM:215140
HP:0001780	Abnormal toe morphology	652	BMP4	ORPHA:139471
HP:0001780	Abnormal toe morphology	8195	MKKS	ORPHA:2473
HP:0001780	Abnormal toe morphology	80173	IFT74	OMIM:617119
HP:0001780	Abnormal toe morphology	84314	TMEM107	ORPHA:564
HP:0001780	Abnormal toe morphology	84314	TMEM107	OMIM:617563
HP:0001780	Abnormal toe morphology	57096	RPGRIP1	ORPHA:564
HP:0001780	Abnormal toe morphology	27031	NPHP3	OMIM:267010
HP:0001780	Abnormal toe morphology	285600	KIAA0825	OMIM:618498
HP:0001780	Abnormal toe morphology	583	BBS2	OMIM:615981
HP:0001780	Abnormal toe morphology	137392	CIBAR1	OMIM:618219
HP:0001780	Abnormal toe morphology	7700	ZNF141	OMIM:615226
HP:0001780	Abnormal toe morphology	166379	BBS12	OMIM:615989
HP:0001780	Abnormal toe morphology	27241	BBS9	OMIM:615986
HP:0001780	Abnormal toe morphology	255758	DYNLT2B	OMIM:617405
HP:0001780	Abnormal toe morphology	242	ALOX12B	OMIM:242100
HP:0001780	Abnormal toe morphology	59344	ALOXE3	OMIM:242100
HP:0001780	Abnormal toe morphology	1280	COL2A1	OMIM:271700
HP:0001780	Abnormal toe morphology	1280	COL2A1	OMIM:609162
HP:0001780	Abnormal toe morphology	5144	PDE4D	ORPHA:950
HP:0001780	Abnormal toe morphology	5144	PDE4D	ORPHA:280651
HP:0001780	Abnormal toe morphology	5144	PDE4D	ORPHA:439822
HP:0001780	Abnormal toe morphology	7840	ALMS1	ORPHA:64
HP:0001780	Abnormal toe morphology	145173	B3GLCT	OMIM:261540
HP:0001780	Abnormal toe morphology	145173	B3GLCT	ORPHA:709
HP:0001780	Abnormal toe morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001780	Abnormal toe morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001780	Abnormal toe morphology	6023	RMRP	ORPHA:39041
HP:0001780	Abnormal toe morphology	6023	RMRP	OMIM:607095
HP:0001780	Abnormal toe morphology	55636	CHD7	ORPHA:39041
HP:0001780	Abnormal toe morphology	5896	RAG1	ORPHA:39041
HP:0001780	Abnormal toe morphology	5897	RAG2	ORPHA:39041
HP:0001780	Abnormal toe morphology	64421	DCLRE1C	ORPHA:39041
HP:0001780	Abnormal toe morphology	100	ADA	ORPHA:39041
HP:0001780	Abnormal toe morphology	3575	IL7R	ORPHA:39041
HP:0001780	Abnormal toe morphology	3561	IL2RG	ORPHA:39041
HP:0001780	Abnormal toe morphology	1788	DNMT3A	ORPHA:404443
HP:0001780	Abnormal toe morphology	6473	SHOX	OMIM:127300
HP:0001780	Abnormal toe morphology	79718	TBL1XR1	OMIM:602342
HP:0001780	Abnormal toe morphology	79718	TBL1XR1	ORPHA:487825
HP:0001780	Abnormal toe morphology	54928	BPNT2	OMIM:614078
HP:0001780	Abnormal toe morphology	23426	GRIP1	OMIM:617667
HP:0001780	Abnormal toe morphology	23384	SPECC1L	ORPHA:1519
HP:0001780	Abnormal toe morphology	55650	PIGV	OMIM:239300
HP:0001780	Abnormal toe morphology	9759	HDAC4	OMIM:600430
HP:0001780	Abnormal toe morphology	427	ASAH1	ORPHA:333
HP:0001780	Abnormal toe morphology	3039	HBA1	ORPHA:98791
HP:0001780	Abnormal toe morphology	3040	HBA2	ORPHA:98791
HP:0001780	Abnormal toe morphology	23483	TGDS	OMIM:616145
HP:0001780	Abnormal toe morphology	50945	TBX22	ORPHA:921
HP:0001780	Abnormal toe morphology	9509	ADAMTS2	OMIM:225410
HP:0001780	Abnormal toe morphology	375056	MIA3	OMIM:619269
HP:0001780	Abnormal toe morphology	2778	GNAS	OMIM:103580
HP:0001780	Abnormal toe morphology	2690	GHR	ORPHA:633
HP:0001780	Abnormal toe morphology	2879	GPX4	OMIM:250220
HP:0001780	Abnormal toe morphology	1146	CHRNG	OMIM:265000
HP:0001780	Abnormal toe morphology	3728	JUP	ORPHA:158687
HP:0001780	Abnormal toe morphology	29895	MYL11	OMIM:619110
HP:0001780	Abnormal toe morphology	10216	PRG4	ORPHA:2848
HP:0001780	Abnormal toe morphology	84295	PHF6	ORPHA:127
HP:0001780	Abnormal toe morphology	4313	MMP2	OMIM:259600
HP:0001780	Abnormal toe morphology	7750	ZMYM2	OMIM:619522
HP:0001780	Abnormal toe morphology	2719	GPC3	OMIM:312870
HP:0001780	Abnormal toe morphology	7474	WNT5A	OMIM:180700
HP:0001780	Abnormal toe morphology	1855	DVL1	OMIM:180700
HP:0001780	Abnormal toe morphology	65250	CPLANE1	OMIM:277170
HP:0001780	Abnormal toe morphology	57688	ZSWIM6	ORPHA:1827
HP:0001780	Abnormal toe morphology	57688	ZSWIM6	OMIM:603671
HP:0001780	Abnormal toe morphology	1954	MEGF8	ORPHA:65759
HP:0001780	Abnormal toe morphology	53834	FGFRL1	OMIM:194190
HP:0001780	Abnormal toe morphology	1487	CTBP1	OMIM:194190
HP:0001780	Abnormal toe morphology	3954	LETM1	OMIM:194190
HP:0001780	Abnormal toe morphology	7468	NSD2	OMIM:194190
HP:0001780	Abnormal toe morphology	1281	COL3A1	OMIM:130050
HP:0001780	Abnormal toe morphology	6335	SCN9A	ORPHA:970
HP:0001780	Abnormal toe morphology	6335	SCN9A	OMIM:201300
HP:0001780	Abnormal toe morphology	65125	WNK1	ORPHA:970
HP:0001780	Abnormal toe morphology	65125	WNK1	OMIM:201300
HP:0001780	Abnormal toe morphology	54463	RETREG1	ORPHA:970
HP:0001780	Abnormal toe morphology	54463	RETREG1	OMIM:201300
HP:0001780	Abnormal toe morphology	547	KIF1A	ORPHA:970
HP:0001780	Abnormal toe morphology	547	KIF1A	OMIM:201300
HP:0001780	Abnormal toe morphology	4853	NOTCH2	OMIM:102500
HP:0001780	Abnormal toe morphology	51651	PTRH2	ORPHA:456312
HP:0001780	Abnormal toe morphology	64132	XYLT2	OMIM:605822
HP:0001780	Abnormal toe morphology	57003	CCDC47	OMIM:618268
HP:0001780	Abnormal toe morphology	63895	PIEZO2	OMIM:114300
HP:0001780	Abnormal toe morphology	348180	CTU2	OMIM:618142
HP:0001780	Abnormal toe morphology	91754	NEK9	OMIM:614262
HP:0001780	Abnormal toe morphology	2132	EXT2	OMIM:616682
HP:0001780	Abnormal toe morphology	2132	EXT2	ORPHA:466926
HP:0001780	Abnormal toe morphology	51633	OTUD6B	OMIM:617452
HP:0001780	Abnormal toe morphology	51633	OTUD6B	ORPHA:505237
HP:0001780	Abnormal toe morphology	10815	CPLX1	OMIM:617976
HP:0001780	Abnormal toe morphology	392255	GDF6	OMIM:617898
HP:0001780	Abnormal toe morphology	998	CDC42	ORPHA:487796
HP:0001780	Abnormal toe morphology	998	CDC42	OMIM:616737
HP:0001780	Abnormal toe morphology	8239	USP9X	ORPHA:480880
HP:0001780	Abnormal toe morphology	55628	ZNF407	OMIM:619557
HP:0001780	Abnormal toe morphology	89970	RSPRY1	OMIM:616723
HP:0001780	Abnormal toe morphology	89970	RSPRY1	ORPHA:457395
HP:0001780	Abnormal toe morphology	54499	TMCO1	OMIM:213980
HP:0001780	Abnormal toe morphology	118987	PDZD8	OMIM:620021
HP:0001780	Abnormal toe morphology	79228	THOC6	ORPHA:363444
HP:0001780	Abnormal toe morphology	6647	SOD1	OMIM:618598
HP:0001780	Abnormal toe morphology	170302	ARX	OMIM:300004
HP:0001780	Abnormal toe morphology	388015	RTL1	ORPHA:254528
HP:0001780	Abnormal toe morphology	8788	DLK1	ORPHA:254528
HP:0001780	Abnormal toe morphology	55384	MEG3	ORPHA:254528
HP:0001780	Abnormal toe morphology	5594	MAPK1	OMIM:619087
HP:0001780	Abnormal toe morphology	6536	SLC6A9	OMIM:617301
HP:0001780	Abnormal toe morphology	28952	CCDC22	OMIM:300963
HP:0001780	Abnormal toe morphology	84162	BLTP1	OMIM:617822
HP:0001780	Abnormal toe morphology	9772	TMEM94	OMIM:618316
HP:0001780	Abnormal toe morphology	6925	TCF4	OMIM:610954
HP:0001780	Abnormal toe morphology	55343	SLC35C1	ORPHA:99843
HP:0001780	Abnormal toe morphology	7169	TPM2	OMIM:108120
HP:0001780	Abnormal toe morphology	50515	CHST11	OMIM:618167
HP:0001780	Abnormal toe morphology	3190	HNRNPK	OMIM:616580
HP:0001780	Abnormal toe morphology	22930	RAB3GAP1	OMIM:600118
HP:0001780	Abnormal toe morphology	22930	RAB3GAP1	OMIM:619420
HP:0001780	Abnormal toe morphology	9968	MED12	OMIM:300895
HP:0001780	Abnormal toe morphology	2186	BPTF	OMIM:617755
HP:0001780	Abnormal toe morphology	54916	TMEM260	OMIM:617478
HP:0001780	Abnormal toe morphology	2146	EZH2	OMIM:277590
HP:0001780	Abnormal toe morphology	7703	PCGF2	OMIM:618371
HP:0001780	Abnormal toe morphology	129285	PPP1R21	OMIM:619383
HP:0001780	Abnormal toe morphology	171023	ASXL1	OMIM:605039
HP:0001780	Abnormal toe morphology	26100	WIPI2	OMIM:618453
HP:0001780	Abnormal toe morphology	26173	INTS1	OMIM:618571
HP:0001780	Abnormal toe morphology	1822	ATN1	OMIM:618494
HP:0001780	Abnormal toe morphology	55656	INTS8	OMIM:618572
HP:0001780	Abnormal toe morphology	2702	GJA5	OMIM:612474
HP:0001780	Abnormal toe morphology	2703	GJA8	OMIM:612474
HP:0001780	Abnormal toe morphology	529	ATP6V1E1	OMIM:617402
HP:0001780	Abnormal toe morphology	84148	KAT8	OMIM:618974
HP:0001780	Abnormal toe morphology	4654	MYOD1	OMIM:618975
HP:0001780	Abnormal toe morphology	25942	SIN3A	OMIM:613406
HP:0001780	Abnormal toe morphology	6638	SNRPN	ORPHA:177907
HP:0001780	Abnormal toe morphology	9230	RAB11B	OMIM:617807
HP:0001780	Abnormal toe morphology	26040	SETBP1	ORPHA:798
HP:0001780	Abnormal toe morphology	10075	HUWE1	OMIM:309590
HP:0001780	Abnormal toe morphology	4882	NPR2	OMIM:602875
HP:0001780	Abnormal toe morphology	4882	NPR2	OMIM:615923
HP:0001780	Abnormal toe morphology	84265	POLR3GL	OMIM:619234
HP:0001780	Abnormal toe morphology	9158	FIBP	ORPHA:500095
HP:0001780	Abnormal toe morphology	9158	FIBP	OMIM:617107
HP:0001780	Abnormal toe morphology	579	NKX3-2	OMIM:613330
HP:0001780	Abnormal toe morphology	6611	SMS	OMIM:309583
HP:0001780	Abnormal toe morphology	2770	GNAI1	OMIM:619854
HP:0001780	Abnormal toe morphology	8813	DPM1	ORPHA:79322
HP:0001780	Abnormal toe morphology	3756	KCNH1	OMIM:611816
HP:0001780	Abnormal toe morphology	3756	KCNH1	ORPHA:420561
HP:0001780	Abnormal toe morphology	5745	PTH1R	OMIM:600002
HP:0001780	Abnormal toe morphology	9839	ZEB2	ORPHA:261537
HP:0001780	Abnormal toe morphology	9839	ZEB2	ORPHA:261552
HP:0001780	Abnormal toe morphology	79759	ZNF668	OMIM:620194
HP:0001780	Abnormal toe morphology	4883	NPR3	OMIM:619543
HP:0001780	Abnormal toe morphology	23522	KAT6B	OMIM:603736
HP:0001780	Abnormal toe morphology	5573	PRKAR1A	OMIM:101800
HP:0001780	Abnormal toe morphology	3782	KCNN3	OMIM:618658
HP:0001780	Abnormal toe morphology	56975	FAM20C	OMIM:259775
HP:0001780	Abnormal toe morphology	64840	PORCN	OMIM:305600
HP:0001780	Abnormal toe morphology	7480	WNT10B	OMIM:225300
HP:0001780	Abnormal toe morphology	10262	SF3B4	OMIM:154400
HP:0001780	Abnormal toe morphology	7476	WNT7A	OMIM:228930
HP:0001780	Abnormal toe morphology	7476	WNT7A	ORPHA:2879
HP:0001780	Abnormal toe morphology	7476	WNT7A	OMIM:276820
HP:0001780	Abnormal toe morphology	54567	DLL4	OMIM:616589
HP:0001780	Abnormal toe morphology	1749	DLX5	OMIM:183600
HP:0001780	Abnormal toe morphology	4038	LRP4	ORPHA:3258
HP:0001780	Abnormal toe morphology	324	APC	ORPHA:3258
HP:0001780	Abnormal toe morphology	7528	YY1	ORPHA:506358
HP:0001780	Abnormal toe morphology	7528	YY1	OMIM:617557
HP:0001780	Abnormal toe morphology	8450	CUL4B	OMIM:300354
HP:0001780	Abnormal toe morphology	8450	CUL4B	ORPHA:85293
HP:0001780	Abnormal toe morphology	8425	LTBP4	OMIM:613177
HP:0001780	Abnormal toe morphology	8924	HERC2	OMIM:615516
HP:0001780	Abnormal toe morphology	55777	MBD5	ORPHA:228402
HP:0001780	Abnormal toe morphology	55777	MBD5	OMIM:156200
HP:0001780	Abnormal toe morphology	6840	SVIL	OMIM:619040
HP:0001780	Abnormal toe morphology	1836	SLC26A2	ORPHA:56304
HP:0001780	Abnormal toe morphology	1836	SLC26A2	OMIM:256050
HP:0001780	Abnormal toe morphology	1349	COX7B	OMIM:300887
HP:0001780	Abnormal toe morphology	1278	COL1A2	ORPHA:230851
HP:0001780	Abnormal toe morphology	613	BCR	ORPHA:261330
HP:0001780	Abnormal toe morphology	1399	CRKL	ORPHA:261330
HP:0001780	Abnormal toe morphology	2623	GATA1	OMIM:190685
HP:0001780	Abnormal toe morphology	83479	DDX59	OMIM:174300
HP:0001780	Abnormal toe morphology	126792	B3GALT6	ORPHA:2725
HP:0001780	Abnormal toe morphology	22858	CILK1	OMIM:612651
HP:0001780	Abnormal toe morphology	28960	DCPS	OMIM:616459
HP:0001780	Abnormal toe morphology	2590	GALNT2	OMIM:618885
HP:0001780	Abnormal toe morphology	8260	NAA10	OMIM:300855
HP:0001780	Abnormal toe morphology	80204	FBXO11	OMIM:618089
HP:0001780	Abnormal toe morphology	8289	ARID1A	OMIM:614607
HP:0001780	Abnormal toe morphology	2317	FLNB	OMIM:108721
HP:0001780	Abnormal toe morphology	79087	ALG12	OMIM:607143
HP:0001780	Abnormal toe morphology	79087	ALG12	ORPHA:79324
HP:0001780	Abnormal toe morphology	9496	TBX4	ORPHA:261279
HP:0001780	Abnormal toe morphology	9496	TBX4	OMIM:147891
HP:0001780	Abnormal toe morphology	25	ABL1	OMIM:617602
HP:0001780	Abnormal toe morphology	545	ATR	OMIM:210600
HP:0001780	Abnormal toe morphology	545	ATR	ORPHA:808
HP:0001780	Abnormal toe morphology	165	AEBP1	ORPHA:536532
HP:0001780	Abnormal toe morphology	2316	FLNA	ORPHA:90650
HP:0001780	Abnormal toe morphology	2316	FLNA	OMIM:311300
HP:0001780	Abnormal toe morphology	3981	LIG4	ORPHA:235
HP:0001780	Abnormal toe morphology	157680	VPS13B	ORPHA:193
HP:0001780	Abnormal toe morphology	5593	PRKG2	OMIM:619636
HP:0001780	Abnormal toe morphology	157570	ESCO2	ORPHA:3103
HP:0001780	Abnormal toe morphology	55027	HEATR3	OMIM:620072
HP:0001780	Abnormal toe morphology	10651	MTX2	OMIM:619127
HP:0001780	Abnormal toe morphology	51098	IFT52	OMIM:617102
HP:0001780	Abnormal toe morphology	6942	TCF20	OMIM:618430
HP:0001780	Abnormal toe morphology	7140	TNNT3	OMIM:618435
HP:0001780	Abnormal toe morphology	6605	SMARCE1	OMIM:616938
HP:0001780	Abnormal toe morphology	4123	MAN2C1	OMIM:619775
HP:0001780	Abnormal toe morphology	9320	TRIP12	OMIM:617752
HP:0001780	Abnormal toe morphology	6603	SMARCD2	OMIM:617475
HP:0001780	Abnormal toe morphology	387	RHOA	OMIM:618727
HP:0001780	Abnormal toe morphology	7994	KAT6A	OMIM:616268
HP:0001780	Abnormal toe morphology	51594	NBAS	OMIM:614800
HP:0001780	Abnormal toe morphology	1062	CENPE	ORPHA:808
HP:0001780	Abnormal toe morphology	5116	PCNT	ORPHA:808
HP:0001780	Abnormal toe morphology	79902	NUP85	ORPHA:808
HP:0001780	Abnormal toe morphology	84126	ATRIP	ORPHA:808
HP:0001780	Abnormal toe morphology	55835	CENPJ	ORPHA:808
HP:0001780	Abnormal toe morphology	10293	TRAIP	ORPHA:808
HP:0001780	Abnormal toe morphology	22995	CEP152	ORPHA:808
HP:0001780	Abnormal toe morphology	10733	PLK4	ORPHA:808
HP:0001780	Abnormal toe morphology	1302	COL11A2	ORPHA:1427
HP:0001780	Abnormal toe morphology	8726	EED	ORPHA:3447
HP:0001780	Abnormal toe morphology	23512	SUZ12	ORPHA:3447
HP:0001780	Abnormal toe morphology	9469	CHST3	OMIM:245600
HP:0001780	Abnormal toe morphology	26229	B3GAT3	OMIM:245600
HP:0001780	Abnormal toe morphology	1832	DSP	OMIM:609638
HP:0001780	Abnormal toe morphology	51053	GMNN	OMIM:616835
HP:0001780	Abnormal toe morphology	55081	IFT57	OMIM:617927
HP:0001780	Abnormal toe morphology	3480	IGF1R	OMIM:270450
HP:0001780	Abnormal toe morphology	5281	PIGF	OMIM:619356
HP:0001780	Abnormal toe morphology	415	ARSL	ORPHA:79345
HP:0001780	Abnormal toe morphology	490	ATP2B1	OMIM:619910
HP:0001780	Abnormal toe morphology	64131	XYLT1	OMIM:615777
HP:0001780	Abnormal toe morphology	10195	ALG3	OMIM:601110
HP:0001780	Abnormal toe morphology	5283	PIGH	OMIM:618010
HP:0001780	Abnormal toe morphology	6049	RNF6	ORPHA:99977
HP:0001780	Abnormal toe morphology	7048	TGFBR2	ORPHA:99977
HP:0001780	Abnormal toe morphology	51741	WWOX	ORPHA:99977
HP:0001780	Abnormal toe morphology	9940	DLEC1	ORPHA:99977
HP:0001780	Abnormal toe morphology	10269	ZMPSTE24	OMIM:608612
HP:0001780	Abnormal toe morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001780	Abnormal toe morphology	113246	C12orf57	OMIM:218340
HP:0001780	Abnormal toe morphology	2643	GCH1	ORPHA:98808
HP:0001780	Abnormal toe morphology	4929	NR4A2	ORPHA:98808
HP:0001780	Abnormal toe morphology	3615	IMPDH2	ORPHA:98808
HP:0001780	Abnormal toe morphology	3315	HSPB1	OMIM:608634
HP:0001780	Abnormal toe morphology	26353	HSPB8	OMIM:158590
HP:0001780	Abnormal toe morphology	59341	TRPV4	OMIM:606835
HP:0001780	Abnormal toe morphology	2261	FGFR3	OMIM:602849
HP:0001780	Abnormal toe morphology	10682	EBP	ORPHA:401973
HP:0001780	Abnormal toe morphology	10682	EBP	OMIM:300960
HP:0001780	Abnormal toe morphology	658	BMPR1B	OMIM:112600
HP:0001780	Abnormal toe morphology	8200	GDF5	OMIM:112600
HP:0001780	Abnormal toe morphology	650	BMP2	OMIM:112600
HP:0001780	Abnormal toe morphology	22827	PUF60	ORPHA:508498
HP:0001780	Abnormal toe morphology	11253	MAN1B1	ORPHA:397941
HP:0001780	Abnormal toe morphology	23394	ADNP	ORPHA:404448
HP:0001780	Abnormal toe morphology	5898	RALA	OMIM:619311
HP:0001780	Abnormal toe morphology	8294	H4C9	OMIM:619951
HP:0001780	Abnormal toe morphology	8506	CNTNAP1	OMIM:618186
HP:0001780	Abnormal toe morphology	4683	NBN	OMIM:251260
HP:0001780	Abnormal toe morphology	5885	RAD21	OMIM:614701
HP:0001780	Abnormal toe morphology	81857	MED25	OMIM:616449
HP:0001780	Abnormal toe morphology	81857	MED25	ORPHA:464738
HP:0001780	Abnormal toe morphology	10586	MAB21L2	OMIM:615877
HP:0001780	Abnormal toe morphology	8854	ALDH1A2	OMIM:620025
HP:0001780	Abnormal toe morphology	10274	STAG1	ORPHA:502434
HP:0001780	Abnormal toe morphology	85358	SHANK3	OMIM:606232
HP:0001780	Abnormal toe morphology	64324	NSD1	ORPHA:821
HP:0001780	Abnormal toe morphology	29072	SETD2	ORPHA:821
HP:0001780	Abnormal toe morphology	10297	APC2	ORPHA:821
HP:0001780	Abnormal toe morphology	55209	SETD5	ORPHA:404440
HP:0001780	Abnormal toe morphology	10743	RAI1	ORPHA:477817
HP:0001780	Abnormal toe morphology	55790	CSGALNACT1	OMIM:618870
HP:0001780	Abnormal toe morphology	23291	FBXW11	OMIM:618914
HP:0001780	Abnormal toe morphology	10982	MAPRE2	OMIM:616734
HP:0001780	Abnormal toe morphology	1717	DHCR7	ORPHA:818
HP:0001780	Abnormal toe morphology	1717	DHCR7	OMIM:270400
HP:0001780	Abnormal toe morphology	4297	KMT2A	OMIM:605130
HP:0001780	Abnormal toe morphology	8626	TP63	OMIM:106260
HP:0001780	Abnormal toe morphology	6660	SOX5	ORPHA:313892
HP:0001780	Abnormal toe morphology	54880	BCOR	ORPHA:2712
HP:0001780	Abnormal toe morphology	54880	BCOR	OMIM:300166
HP:0001780	Abnormal toe morphology	51057	WDPCP	OMIM:217085
HP:0001780	Abnormal toe morphology	9241	NOG	OMIM:186500
HP:0001780	Abnormal toe morphology	727857	BHLHA9	ORPHA:157801
HP:0001780	Abnormal toe morphology	7319	UBE2A	OMIM:300860
HP:0001780	Abnormal toe morphology	10087	CERT1	OMIM:616351
HP:0001780	Abnormal toe morphology	372	ARCN1	OMIM:617164
HP:0001780	Abnormal toe morphology	164	AP1G1	OMIM:619467
HP:0001780	Abnormal toe morphology	1656	DDX6	OMIM:618653
HP:0001780	Abnormal toe morphology	4212	MEIS2	OMIM:600987
HP:0001780	Abnormal toe morphology	23327	NEDD4L	OMIM:617201
HP:0001780	Abnormal toe morphology	5147	PDE6D	OMIM:615665
HP:0001780	Abnormal toe morphology	57178	ZMIZ1	OMIM:618659
HP:0001780	Abnormal toe morphology	93627	TBCK	ORPHA:488632
HP:0001780	Abnormal toe morphology	6304	SATB1	OMIM:619229
HP:0001780	Abnormal toe morphology	80185	TTI2	ORPHA:391307
HP:0001780	Abnormal toe morphology	26160	IFT172	OMIM:619471
HP:0001780	Abnormal toe morphology	10664	CTCF	ORPHA:363611
HP:0001780	Abnormal toe morphology	3590	IL11RA	OMIM:614188
HP:0001780	Abnormal toe morphology	55165	CEP55	OMIM:236500
HP:0001780	Abnormal toe morphology	84992	PIGY	OMIM:616809
HP:0001780	Abnormal toe morphology	10907	TXNL4A	OMIM:608572
HP:0001780	Abnormal toe morphology	284252	KCTD1	OMIM:181270
HP:0001780	Abnormal toe morphology	6558	SLC12A2	OMIM:619080
HP:0001780	Abnormal toe morphology	7204	TRIO	OMIM:617061
HP:0001780	Abnormal toe morphology	7204	TRIO	ORPHA:476126
HP:0001780	Abnormal toe morphology	64327	LMBR1	OMIM:186200
HP:0001780	Abnormal toe morphology	2222	FDFT1	OMIM:618156
HP:0001780	Abnormal toe morphology	4089	SMAD4	OMIM:139210
HP:0001780	Abnormal toe morphology	6857	SYT1	ORPHA:522077
HP:0001780	Abnormal toe morphology	8318	CDC45	OMIM:617063
HP:0001780	Abnormal toe morphology	6472	SHMT2	OMIM:619121
HP:0001780	Abnormal toe morphology	112752	IFT43	OMIM:617866
HP:0001780	Abnormal toe morphology	112752	IFT43	OMIM:614099
HP:0001780	Abnormal toe morphology	57570	TRMT5	OMIM:616539
HP:0001780	Abnormal toe morphology	2260	FGFR1	OMIM:123150
HP:0001780	Abnormal toe morphology	2263	FGFR2	OMIM:123150
HP:0001780	Abnormal toe morphology	2263	FGFR2	ORPHA:1540
HP:0001780	Abnormal toe morphology	23529	CLCF1	OMIM:610313
HP:0001780	Abnormal toe morphology	11128	POLR3A	ORPHA:3455
HP:0001780	Abnormal toe morphology	745	MYRF	OMIM:618280
HP:0001780	Abnormal toe morphology	23387	SIK3	OMIM:618162
HP:0001780	Abnormal toe morphology	10020	GNE	OMIM:269921
HP:0001780	Abnormal toe morphology	10020	GNE	ORPHA:3166
HP:0001780	Abnormal toe morphology	1663	DDX11	OMIM:613398
HP:0001780	Abnormal toe morphology	25836	NIPBL	OMIM:122470
HP:0001780	Abnormal toe morphology	5718	PSMD12	OMIM:617516
HP:0001780	Abnormal toe morphology	9757	KMT2B	OMIM:619934
HP:0001780	Abnormal toe morphology	4848	CNOT2	OMIM:618608
HP:0001780	Abnormal toe morphology	55023	PHIP	ORPHA:589905
HP:0001780	Abnormal toe morphology	341208	HEPHL1	OMIM:261990
HP:0001780	Abnormal toe morphology	55212	BBS7	OMIM:615984
HP:0001780	Abnormal toe morphology	4208	MEF2C	OMIM:613443
HP:0001780	Abnormal toe morphology	3516	RBPJ	OMIM:614814
HP:0001780	Abnormal toe morphology	3720	JARID2	OMIM:620098
HP:0001780	Abnormal toe morphology	3762	KCNJ5	ORPHA:37553
HP:0001780	Abnormal toe morphology	3759	KCNJ2	ORPHA:37553
HP:0001780	Abnormal toe morphology	9990	SLC12A6	OMIM:218000
HP:0001780	Abnormal toe morphology	3239	HOXD13	OMIM:186000
HP:0001780	Abnormal toe morphology	3239	HOXD13	OMIM:186300
HP:0001780	Abnormal toe morphology	6299	SALL1	OMIM:107480
HP:0001780	Abnormal toe morphology	4613	MYCN	ORPHA:391641
HP:0001780	Abnormal toe morphology	4613	MYCN	OMIM:164280
HP:0001780	Abnormal toe morphology	6913	TBX15	OMIM:260660
HP:0001780	Abnormal toe morphology	54888	NSUN2	OMIM:611091
HP:0001780	Abnormal toe morphology	50814	NSDHL	OMIM:308050
HP:0001780	Abnormal toe morphology	92002	CCNQ	OMIM:300707
HP:0001780	Abnormal toe morphology	81607	NECTIN4	OMIM:613573
HP:0001780	Abnormal toe morphology	79583	TMEM231	OMIM:614970
HP:0001780	Abnormal toe morphology	9894	TELO2	ORPHA:488642
HP:0001780	Abnormal toe morphology	5932	RBBP8	OMIM:251255
HP:0001780	Abnormal toe morphology	1327	COX4I1	OMIM:619060
HP:0001780	Abnormal toe morphology	8936	WASF1	OMIM:618707
HP:0001780	Abnormal toe morphology	4204	MECP2	OMIM:300260
HP:0001780	Abnormal toe morphology	6134	RPL10	OMIM:300998
HP:0001780	Abnormal toe morphology	8295	TRRAP	OMIM:618454
HP:0001780	Abnormal toe morphology	91179	SCARF2	OMIM:600920
HP:0001780	Abnormal toe morphology	23288	IQCE	OMIM:617642
HP:0001780	Abnormal toe morphology	5587	PRKD1	OMIM:617364
HP:0001780	Abnormal toe morphology	55784	MCTP2	ORPHA:1596
HP:0001780	Abnormal toe morphology	775	CACNA1C	OMIM:620029
HP:0001780	Abnormal toe morphology	8823	FGF16	OMIM:309630
HP:0001780	Abnormal toe morphology	64093	SMOC1	OMIM:206920
HP:0001780	Abnormal toe morphology	10522	DEAF1	OMIM:615828
HP:0001780	Abnormal toe morphology	10079	ATP9A	OMIM:620242
HP:0001780	Abnormal toe morphology	2556	GABRA3	OMIM:301091
HP:0001780	Abnormal toe morphology	51776	MAP3K20	ORPHA:488232
HP:0001780	Abnormal toe morphology	23261	CAMTA1	OMIM:614756
HP:0001780	Abnormal toe morphology	374969	SVBP	OMIM:618569
HP:0001780	Abnormal toe morphology	1859	DYRK1A	ORPHA:268261
HP:0001780	Abnormal toe morphology	2697	GJA1	OMIM:257850
HP:0001780	Abnormal toe morphology	55697	VAC14	ORPHA:3472
HP:0001780	Abnormal toe morphology	10236	HNRNPR	OMIM:620073
HP:0001780	Abnormal toe morphology	139285	AMER1	OMIM:300373
HP:0001780	Abnormal toe morphology	11160	ERLIN2	ORPHA:209951
HP:0001780	Abnormal toe morphology	55315	SLC29A3	OMIM:602782
HP:0001780	Abnormal toe morphology	2200	FBN1	OMIM:608328
HP:0001780	Abnormal toe morphology	23556	PIGN	ORPHA:280633
HP:0001780	Abnormal toe morphology	22978	NT5C2	ORPHA:320396
HP:0001780	Abnormal toe morphology	64127	NOD2	OMIM:186580
HP:0001780	Abnormal toe morphology	4621	MYH3	OMIM:193700
HP:0001780	Abnormal toe morphology	23102	TBC1D2B	OMIM:619323
HP:0001780	Abnormal toe morphology	3977	LIFR	OMIM:601559
HP:0001780	Abnormal toe morphology	7043	TGFB3	OMIM:615582
HP:0001780	Abnormal toe morphology	1984	EIF5A	OMIM:619376
HP:0001780	Abnormal toe morphology	5696	PSMB8	OMIM:256040
HP:0001780	Abnormal toe morphology	3339	HSPG2	OMIM:255800
HP:0001780	Abnormal toe morphology	3339	HSPG2	ORPHA:800
HP:0001780	Abnormal toe morphology	2067	ERCC1	OMIM:610758
HP:0001780	Abnormal toe morphology	4750	NEK1	ORPHA:2751
HP:0001780	Abnormal toe morphology	4750	NEK1	OMIM:263520
HP:0001780	Abnormal toe morphology	3209	HOXA13	OMIM:140000
HP:0001780	Abnormal toe morphology	3209	HOXA13	ORPHA:2438
HP:0001780	Abnormal toe morphology	1001	CDH3	OMIM:225280
HP:0001780	Abnormal toe morphology	5518	PPP2R1A	OMIM:616362
HP:0001780	Abnormal toe morphology	5518	PPP2R1A	ORPHA:457284
HP:0001780	Abnormal toe morphology	6477	SIAH1	OMIM:619314
HP:0001780	Abnormal toe morphology	10059	DNM1L	OMIM:614388
HP:0001780	Abnormal toe morphology	4329	ALDH6A1	OMIM:614105
HP:0001780	Abnormal toe morphology	84720	PIGO	OMIM:614749
HP:0001780	Abnormal toe morphology	80036	TRPM3	OMIM:620224
HP:0001780	Abnormal toe morphology	8085	KMT2D	OMIM:620186
HP:0001780	Abnormal toe morphology	1457	CSNK2A1	OMIM:617062
HP:0001780	Abnormal toe morphology	137814	NKX2-6	OMIM:217095
HP:0001780	Abnormal toe morphology	1482	NKX2-5	OMIM:217095
HP:0001780	Abnormal toe morphology	2627	GATA6	OMIM:217095
HP:0001780	Abnormal toe morphology	29920	PYCR2	ORPHA:481152
HP:0001780	Abnormal toe morphology	176	ACAN	OMIM:165800
HP:0001780	Abnormal toe morphology	444	ASPH	OMIM:601552
HP:0001780	Abnormal toe morphology	6878	TAF6	OMIM:617126
HP:0001780	Abnormal toe morphology	90	ACVR1	ORPHA:337
HP:0001780	Abnormal toe morphology	1387	CREBBP	OMIM:180849
HP:0001780	Abnormal toe morphology	2033	EP300	OMIM:180849
HP:0001780	Abnormal toe morphology	1947	EFNB1	ORPHA:1520
HP:0001780	Abnormal toe morphology	64359	NXN	ORPHA:1507
HP:0001780	Abnormal toe morphology	4920	ROR2	ORPHA:1507
HP:0001780	Abnormal toe morphology	2626	GATA4	ORPHA:251071
HP:0001780	Abnormal toe morphology	285362	SUMF1	ORPHA:585
HP:0001780	Abnormal toe morphology	23314	SATB2	ORPHA:251019
HP:0001780	Abnormal toe morphology	57167	SALL4	ORPHA:959
HP:0001780	Abnormal toe morphology	51339	DACT1	ORPHA:857
HP:0001780	Abnormal toe morphology	3764	KCNJ8	ORPHA:1517
HP:0001780	Abnormal toe morphology	10060	ABCC9	ORPHA:1517
HP:0001780	Abnormal toe morphology	2239	GPC4	ORPHA:2662
HP:0001780	Abnormal toe morphology	2313	FLI1	ORPHA:2308
HP:0001780	Abnormal toe morphology	60	ACTB	OMIM:243310
HP:0001780	Abnormal toe morphology	9851	KIAA0753	OMIM:617127
HP:0001780	Abnormal toe morphology	374654	KIF7	OMIM:200990
HP:0001780	Abnormal toe morphology	219844	HYLS1	OMIM:236680
HP:0001780	Abnormal toe morphology	26005	C2CD3	ORPHA:434179
HP:0001780	Abnormal toe morphology	5744	PTHLH	ORPHA:93387
HP:0001780	Abnormal toe morphology	10716	TBR1	ORPHA:1617
HP:0001780	Abnormal toe morphology	7291	TWIST1	OMIM:180750
HP:0001780	Abnormal toe morphology	51715	RAB23	OMIM:201000
HP:0001780	Abnormal toe morphology	124583	CANT1	OMIM:251450
HP:0001780	Abnormal toe morphology	4256	MGP	OMIM:245150
HP:0001780	Abnormal toe morphology	7469	NELFA	ORPHA:280
HP:0001780	Abnormal toe morphology	9451	EIF2AK3	OMIM:226980
HP:0001780	Abnormal toe morphology	657	BMPR1A	ORPHA:79076
HP:0001780	Abnormal toe morphology	3736	KCNA1	ORPHA:1934
HP:0001780	Abnormal toe morphology	9091	PIGQ	ORPHA:1934
HP:0001780	Abnormal toe morphology	2775	GNAO1	ORPHA:1934
HP:0001780	Abnormal toe morphology	81603	TRIM8	ORPHA:1934
HP:0001780	Abnormal toe morphology	2902	GRIN1	ORPHA:1934
HP:0001780	Abnormal toe morphology	79751	SLC25A22	ORPHA:1934
HP:0001780	Abnormal toe morphology	150094	SIK1	ORPHA:1934
HP:0001780	Abnormal toe morphology	8573	CASK	ORPHA:1934
HP:0001780	Abnormal toe morphology	23312	DMXL2	ORPHA:1934
HP:0001780	Abnormal toe morphology	2917	GRM7	ORPHA:1934
HP:0001780	Abnormal toe morphology	11284	PNKP	ORPHA:1934
HP:0001780	Abnormal toe morphology	6326	SCN2A	ORPHA:1934
HP:0001780	Abnormal toe morphology	51227	PIGP	ORPHA:1934
HP:0001780	Abnormal toe morphology	6324	SCN1B	ORPHA:1934
HP:0001780	Abnormal toe morphology	4761	NEUROD2	ORPHA:1934
HP:0001780	Abnormal toe morphology	57492	ARID1B	OMIM:135900
HP:0001780	Abnormal toe morphology	54101	RIPK4	ORPHA:1234
HP:0001780	Abnormal toe morphology	9653	HS2ST1	OMIM:619194
HP:0001780	Abnormal toe morphology	3549	IHH	OMIM:112500
HP:0001780	Abnormal toe morphology	158326	FREM1	ORPHA:217266
HP:0001780	Abnormal toe morphology	93587	TRMT10A	ORPHA:391408
HP:0001780	Abnormal toe morphology	84919	PPP1R15B	ORPHA:391408
HP:0001780	Abnormal toe morphology	54872	PIGG	ORPHA:488635
HP:0001780	Abnormal toe morphology	11285	B4GALT7	ORPHA:75496
HP:0001780	Abnormal toe morphology	11285	B4GALT7	OMIM:130070
HP:0001780	Abnormal toe morphology	1376	CPT2	OMIM:608836
HP:0001780	Abnormal toe morphology	57459	GATAD2B	OMIM:615074
HP:0001780	Abnormal toe morphology	57459	GATAD2B	ORPHA:363686
HP:0001780	Abnormal toe morphology	10526	IPO8	OMIM:619472
HP:0001780	Abnormal toe morphology	10265	IRX5	OMIM:611174
HP:0001780	Abnormal toe morphology	51520	LARS1	OMIM:615438
HP:0001780	Abnormal toe morphology	1303	COL12A1	ORPHA:75840
HP:0001780	Abnormal toe morphology	1291	COL6A1	ORPHA:75840
HP:0001780	Abnormal toe morphology	1292	COL6A2	ORPHA:75840
HP:0001780	Abnormal toe morphology	1293	COL6A3	ORPHA:75840
HP:0001780	Abnormal toe morphology	23133	PHF8	OMIM:300263
HP:0001780	Abnormal toe morphology	60676	PAPPA2	OMIM:619489
HP:0001780	Abnormal toe morphology	51111	KMT5B	OMIM:617788
HP:0001780	Abnormal toe morphology	5818	NECTIN1	OMIM:225060
HP:0001780	Abnormal toe morphology	4626	MYH8	OMIM:158300
HP:0001780	Abnormal toe morphology	2254	FGF9	OMIM:612961
HP:0001780	Abnormal toe morphology	79633	FAT4	OMIM:615546
HP:0001780	Abnormal toe morphology	64116	SLC39A8	ORPHA:468699
HP:0001780	Abnormal toe morphology	56916	SMARCAD1	OMIM:129200
HP:0001780	Abnormal toe morphology	5307	PITX1	OMIM:119800
HP:0001780	Abnormal toe morphology	8243	SMC1A	OMIM:301044
HP:0001780	Abnormal toe morphology	5290	PIK3CA	ORPHA:276280
HP:0001780	Abnormal toe morphology	150468	CKAP2L	OMIM:272440
HP:0001780	Abnormal toe morphology	79971	WLS	OMIM:619648
HP:0001780	Abnormal toe morphology	4851	NOTCH1	ORPHA:974
HP:0001780	Abnormal toe morphology	57514	ARHGAP31	ORPHA:974
HP:0001780	Abnormal toe morphology	57572	DOCK6	ORPHA:974
HP:0001780	Abnormal toe morphology	4534	MTM1	OMIM:310400
HP:0001780	Abnormal toe morphology	4953	ODC1	ORPHA:544488
HP:0001780	Abnormal toe morphology	6926	TBX3	OMIM:181450
HP:0001780	Abnormal toe morphology	25782	RAB3GAP2	OMIM:614225
HP:0001780	Abnormal toe morphology	118924	FRA10AC1	OMIM:620113
HP:0001780	Abnormal toe morphology	84342	COG8	OMIM:611182
HP:0001780	Abnormal toe morphology	9896	FIG4	OMIM:216340
HP:0001780	Abnormal toe morphology	2737	GLI3	ORPHA:93322
HP:0001780	Abnormal toe morphology	6608	SMO	OMIM:601707
HP:0001780	Abnormal toe morphology	55764	IFT122	OMIM:218330
HP:0001780	Abnormal toe morphology	126129	CPT1C	OMIM:616282
HP:0001780	Abnormal toe morphology	22856	CHSY1	ORPHA:363417
HP:0001780	Abnormal toe morphology	5528	PPP2R5D	ORPHA:457279
HP:0001780	Abnormal toe morphology	4000	LMNA	ORPHA:2229
HP:0001780	Abnormal toe morphology	6597	SMARCA4	OMIM:614609
HP:0001780	Abnormal toe morphology	285203	EOGT	OMIM:615297
HP:0001780	Abnormal toe morphology	9775	EIF4A3	OMIM:268305
HP:0001780	Abnormal toe morphology	3187	HNRNPH1	OMIM:620083
HP:0001780	Abnormal toe morphology	6595	SMARCA2	ORPHA:3051
HP:0001780	Abnormal toe morphology	3248	HPGD	ORPHA:217059
HP:0001780	Abnormal toe morphology	3248	HPGD	ORPHA:2796
HP:0001780	Abnormal toe morphology	3248	HPGD	ORPHA:1525
HP:0001780	Abnormal toe morphology	79651	RHBDF2	ORPHA:2198
HP:0001780	Abnormal toe morphology	9487	PIGL	ORPHA:3474
HP:0001780	Abnormal toe morphology	672	BRCA1	ORPHA:84
HP:0001780	Abnormal toe morphology	10459	MAD2L2	ORPHA:84
HP:0001780	Abnormal toe morphology	7516	XRCC2	ORPHA:84
HP:0001780	Abnormal toe morphology	29089	UBE2T	ORPHA:84
HP:0001780	Abnormal toe morphology	675	BRCA2	ORPHA:84
HP:0001780	Abnormal toe morphology	55120	FANCL	ORPHA:84
HP:0001780	Abnormal toe morphology	2177	FANCD2	ORPHA:84
HP:0001780	Abnormal toe morphology	2175	FANCA	ORPHA:84
HP:0001780	Abnormal toe morphology	2187	FANCB	ORPHA:84
HP:0001780	Abnormal toe morphology	2176	FANCC	ORPHA:84
HP:0001780	Abnormal toe morphology	2178	FANCE	ORPHA:84
HP:0001780	Abnormal toe morphology	2188	FANCF	ORPHA:84
HP:0001780	Abnormal toe morphology	2189	FANCG	ORPHA:84
HP:0001780	Abnormal toe morphology	5888	RAD51	ORPHA:84
HP:0001780	Abnormal toe morphology	5889	RAD51C	ORPHA:84
HP:0001780	Abnormal toe morphology	55159	RFWD3	ORPHA:84
HP:0001780	Abnormal toe morphology	83990	BRIP1	ORPHA:84
HP:0001780	Abnormal toe morphology	57697	FANCM	ORPHA:84
HP:0001780	Abnormal toe morphology	79728	PALB2	ORPHA:84
HP:0001780	Abnormal toe morphology	84464	SLX4	ORPHA:84
HP:0001780	Abnormal toe morphology	2072	ERCC4	ORPHA:84
HP:0001780	Abnormal toe morphology	55215	FANCI	ORPHA:84
HP:0001780	Abnormal toe morphology	6578	SLCO2A1	ORPHA:2796
HP:0001780	Abnormal toe morphology	7092	TLL1	ORPHA:99106
HP:0001782	Bulbous tips of toes	2316	FLNA	OMIM:311300
HP:0001782	Bulbous tips of toes	2316	FLNA	OMIM:304120
HP:0001785	Ankle swelling	6775	STAT4	ORPHA:85408
HP:0001785	Ankle swelling	3560	IL2RB	ORPHA:85408
HP:0001785	Ankle swelling	79722	ANKRD55	ORPHA:85408
HP:0001785	Ankle swelling	26191	PTPN22	ORPHA:85408
HP:0001785	Ankle swelling	919	CD247	ORPHA:85408
HP:0001785	Ankle swelling	3559	IL2RA	ORPHA:85408
HP:0001785	Ankle swelling	5771	PTPN2	ORPHA:85408
HP:0001785	Ankle swelling	9935	MAFB	OMIM:166300
HP:0001785	Ankle swelling	2324	FLT4	ORPHA:79452
HP:0001785	Ankle swelling	57165	GJC2	ORPHA:79452
HP:0001786	Narrow foot	132	ADK	OMIM:614300
HP:0001786	Narrow foot	10084	PQBP1	OMIM:309500
HP:0001786	Narrow foot	91179	SCARF2	OMIM:600920
HP:0001786	Narrow foot	6925	TCF4	OMIM:610954
HP:0001786	Narrow foot	6925	TCF4	ORPHA:2896
HP:0001786	Narrow foot	2200	FBN1	OMIM:154700
HP:0001787	Abnormal delivery	2261	FGFR3	OMIM:187600
HP:0001787	Abnormal delivery	2261	FGFR3	OMIM:616482
HP:0001787	Abnormal delivery	95	ACY1	OMIM:609924
HP:0001787	Abnormal delivery	1836	SLC26A2	OMIM:600972
HP:0001787	Abnormal delivery	4621	MYH3	OMIM:193700
HP:0001787	Abnormal delivery	51422	PRKAG2	OMIM:261740
HP:0001787	Abnormal delivery	3190	HNRNPK	OMIM:616580
HP:0001787	Abnormal delivery	55870	ASH1L	OMIM:617796
HP:0001787	Abnormal delivery	4998	ORC1	OMIM:224690
HP:0001787	Abnormal delivery	56203	LMOD3	OMIM:616165
HP:0001787	Abnormal delivery	56203	LMOD3	ORPHA:171430
HP:0001787	Abnormal delivery	51780	KDM3B	OMIM:618846
HP:0001787	Abnormal delivery	9469	CHST3	OMIM:143095
HP:0001787	Abnormal delivery	10324	KLHL41	OMIM:615731
HP:0001787	Abnormal delivery	10324	KLHL41	ORPHA:171439
HP:0001787	Abnormal delivery	10324	KLHL41	ORPHA:171430
HP:0001787	Abnormal delivery	55699	IARS2	OMIM:616007
HP:0001787	Abnormal delivery	8425	LTBP4	OMIM:613177
HP:0001787	Abnormal delivery	100151683	RNU4ATAC	OMIM:210710
HP:0001787	Abnormal delivery	6023	RMRP	OMIM:250250
HP:0001787	Abnormal delivery	10491	CRTAP	OMIM:610682
HP:0001787	Abnormal delivery	84665	MYPN	ORPHA:171439
HP:0001787	Abnormal delivery	58	ACTA1	ORPHA:171439
HP:0001787	Abnormal delivery	58	ACTA1	ORPHA:171430
HP:0001787	Abnormal delivery	7169	TPM2	ORPHA:171439
HP:0001787	Abnormal delivery	390594	KBTBD13	ORPHA:171439
HP:0001787	Abnormal delivery	4703	NEB	ORPHA:171439
HP:0001787	Abnormal delivery	4703	NEB	ORPHA:171430
HP:0001787	Abnormal delivery	7170	TPM3	ORPHA:171439
HP:0001787	Abnormal delivery	55681	SCYL2	ORPHA:1143
HP:0001787	Abnormal delivery	84570	COL25A1	ORPHA:1143
HP:0001787	Abnormal delivery	57222	ERGIC1	ORPHA:1143
HP:0001787	Abnormal delivery	1073	CFL2	OMIM:610687
HP:0001787	Abnormal delivery	7681	MKRN3	OMIM:176270
HP:0001787	Abnormal delivery	3653	IPW	OMIM:176270
HP:0001787	Abnormal delivery	54551	MAGEL2	OMIM:176270
HP:0001787	Abnormal delivery	791114	PWRN1	OMIM:176270
HP:0001787	Abnormal delivery	100033413	SNORD116-1	OMIM:176270
HP:0001787	Abnormal delivery	8924	HERC2	OMIM:176270
HP:0001787	Abnormal delivery	145624	PWAR1	OMIM:176270
HP:0001787	Abnormal delivery	23742	NPAP1	OMIM:176270
HP:0001787	Abnormal delivery	338433	SNORD115-1	OMIM:176270
HP:0001787	Abnormal delivery	1717	DHCR7	OMIM:270400
HP:0001787	Abnormal delivery	1277	COL1A1	OMIM:130060
HP:0001787	Abnormal delivery	6261	RYR1	OMIM:619542
HP:0001787	Abnormal delivery	374879	ZNF699	OMIM:619488
HP:0001787	Abnormal delivery	54903	MKS1	OMIM:249000
HP:0001787	Abnormal delivery	6651	SON	OMIM:617140
HP:0001787	Abnormal delivery	25930	PTPN23	OMIM:618890
HP:0001787	Abnormal delivery	5277	PIGA	OMIM:300868
HP:0001787	Abnormal delivery	131377	KLHL40	ORPHA:171430
HP:0001787	Abnormal delivery	667	DST	OMIM:614653
HP:0001787	Abnormal delivery	1841	DTYMK	OMIM:619847
HP:0001787	Abnormal delivery	1278	COL1A2	OMIM:617821
HP:0001787	Abnormal delivery	84300	UQCC2	OMIM:615824
HP:0001787	Abnormal delivery	7407	VARS1	OMIM:617802
HP:0001787	Abnormal delivery	23729	SHPK	ORPHA:440713
HP:0001787	Abnormal delivery	9200	HACD1	OMIM:619967
HP:0001787	Abnormal delivery	5189	PEX1	OMIM:214100
HP:0001787	Abnormal delivery	3939	LDHA	ORPHA:284426
HP:0001787	Abnormal delivery	9968	MED12	OMIM:301068
HP:0001787	Abnormal delivery	1290	COL5A2	ORPHA:287
HP:0001787	Abnormal delivery	9509	ADAMTS2	OMIM:225410
HP:0001787	Abnormal delivery	1281	COL3A1	OMIM:618343
HP:0001787	Abnormal delivery	221496	LEMD2	OMIM:619322
HP:0001787	Abnormal delivery	5351	PLOD1	OMIM:225400
HP:0001787	Abnormal delivery	50619	DEF6	OMIM:619573
HP:0001787	Abnormal delivery	23545	ATP6V0A2	ORPHA:2834
HP:0001787	Abnormal delivery	23545	ATP6V0A2	OMIM:278250
HP:0001787	Abnormal delivery	23394	ADNP	OMIM:615873
HP:0001787	Abnormal delivery	89970	RSPRY1	OMIM:616723
HP:0001787	Abnormal delivery	10269	ZMPSTE24	OMIM:275210
HP:0001787	Abnormal delivery	871	SERPINH1	OMIM:610504
HP:0001787	Abnormal delivery	8241	RBM10	OMIM:311900
HP:0001787	Abnormal delivery	1289	COL5A1	OMIM:130000
HP:0001787	Abnormal delivery	57551	TAOK1	OMIM:619575
HP:0001787	Abnormal delivery	6872	TAF1	OMIM:300966
HP:0001787	Abnormal delivery	5447	POR	OMIM:201750
HP:0001787	Abnormal delivery	776	CACNA1D	ORPHA:369929
HP:0001787	Abnormal delivery	80816	ASXL3	OMIM:615485
HP:0001787	Abnormal delivery	55037	PTCD3	OMIM:619057
HP:0001787	Abnormal delivery	23287	AGTPBP1	OMIM:618276
HP:0001787	Abnormal delivery	4976	OPA1	OMIM:616896
HP:0001787	Abnormal delivery	4534	MTM1	OMIM:310400
HP:0001787	Abnormal delivery	11128	POLR3A	ORPHA:3455
HP:0001787	Abnormal delivery	4173	MCM4	OMIM:609981
HP:0001787	Abnormal delivery	411	ARSB	OMIM:253200
HP:0001787	Abnormal delivery	1584	CYP11B1	ORPHA:403
HP:0001787	Abnormal delivery	1585	CYP11B2	ORPHA:403
HP:0001787	Abnormal delivery	6304	SATB1	OMIM:619229
HP:0001787	Abnormal delivery	9152	SLC6A5	OMIM:614618
HP:0001787	Abnormal delivery	1917	EEF1A2	OMIM:616393
HP:0001787	Abnormal delivery	10588	MTHFS	OMIM:618367
HP:0001787	Abnormal delivery	6711	SPTBN1	OMIM:619475
HP:0001787	Abnormal delivery	2157	F8	ORPHA:169802
HP:0001787	Abnormal delivery	9578	CDC42BPB	OMIM:619841
HP:0001787	Abnormal delivery	2147	F2	ORPHA:325
HP:0001787	Abnormal delivery	2811	GP1BA	ORPHA:853
HP:0001787	Abnormal delivery	2812	GP1BB	ORPHA:853
HP:0001787	Abnormal delivery	3674	ITGA2B	ORPHA:853
HP:0001787	Abnormal delivery	3673	ITGA2	ORPHA:853
HP:0001787	Abnormal delivery	135228	CD109	ORPHA:853
HP:0001787	Abnormal delivery	3690	ITGB3	ORPHA:853
HP:0001787	Abnormal delivery	1583	CYP11A1	ORPHA:289548
HP:0001787	Abnormal delivery	1583	CYP11A1	ORPHA:168558
HP:0008946	Pelvic girdle amyotrophy	825	CAPN3	ORPHA:267
HP:0008946	Pelvic girdle amyotrophy	7415	VCP	OMIM:167320
HP:0008946	Pelvic girdle amyotrophy	6606	SMN1	OMIM:253400
HP:0008946	Pelvic girdle amyotrophy	6607	SMN2	OMIM:253400
HP:0008946	Pelvic girdle amyotrophy	2992	GYG1	OMIM:616199
HP:0008948	Proximal upper limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0008948	Proximal upper limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0008948	Proximal upper limb amyotrophy	1785	DNM2	OMIM:160150
HP:0008948	Proximal upper limb amyotrophy	64419	MTMR14	OMIM:160150
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	OMIM:613205
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	ORPHA:98855
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	6444	SGCD	ORPHA:219
HP:0008948	Proximal upper limb amyotrophy	8557	TCAP	OMIM:601954
HP:0008948	Proximal upper limb amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0008948	Proximal upper limb amyotrophy	2273	FHL1	ORPHA:98863
HP:0008948	Proximal upper limb amyotrophy	2010	EMD	ORPHA:98863
HP:0008948	Proximal upper limb amyotrophy	79188	TMEM43	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	23345	SYNE1	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	23224	SYNE2	ORPHA:98853
HP:0008945	Loss of ability to walk in early childhood	7084	TK2	OMIM:609560
HP:0008945	Loss of ability to walk in early childhood	51218	GLRX5	ORPHA:401866
HP:0008945	Loss of ability to walk in early childhood	8803	SUCLA2	OMIM:612073
HP:0008952	Shoulder muscle hypoplasia	2316	FLNA	ORPHA:1826
HP:0008952	Shoulder muscle hypoplasia	6885	MAP3K7	ORPHA:1826
HP:0008952	Shoulder muscle hypoplasia	9939	RBM8A	OMIM:274000
HP:0008952	Shoulder muscle hypoplasia	57167	SALL4	OMIM:147750
HP:0008953	Pectoralis major hypoplasia	57167	SALL4	OMIM:147750
HP:0008954	Intrinsic hand muscle atrophy	1134	CHRNA1	OMIM:601462
HP:0008954	Intrinsic hand muscle atrophy	55768	NGLY1	OMIM:615273
HP:0008954	Intrinsic hand muscle atrophy	23321	TRIM2	OMIM:615490
HP:0008954	Intrinsic hand muscle atrophy	3094	HINT1	ORPHA:324442
HP:0008954	Intrinsic hand muscle atrophy	182	JAG1	OMIM:619574
HP:0008954	Intrinsic hand muscle atrophy	8988	HSPB3	OMIM:613376
HP:0008954	Intrinsic hand muscle atrophy	7415	VCP	ORPHA:329478
HP:0008954	Intrinsic hand muscle atrophy	22880	MORC2	OMIM:616688
HP:0008954	Intrinsic hand muscle atrophy	859	CAV3	OMIM:614321
HP:0008954	Intrinsic hand muscle atrophy	859	CAV3	ORPHA:488650
HP:0008954	Intrinsic hand muscle atrophy	2318	FLNC	ORPHA:63273
HP:0008954	Intrinsic hand muscle atrophy	5165	PDK3	OMIM:300905
HP:0008954	Intrinsic hand muscle atrophy	374969	SVBP	OMIM:618569
HP:0008954	Intrinsic hand muscle atrophy	8878	SQSTM1	ORPHA:603
HP:0008954	Intrinsic hand muscle atrophy	7072	TIA1	ORPHA:603
HP:0008954	Intrinsic hand muscle atrophy	54332	GDAP1	ORPHA:101097
HP:0008954	Intrinsic hand muscle atrophy	9990	SLC12A6	OMIM:620068
HP:0008954	Intrinsic hand muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0008954	Intrinsic hand muscle atrophy	6261	RYR1	ORPHA:178145
HP:0008954	Intrinsic hand muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0008954	Intrinsic hand muscle atrophy	8291	DYSF	ORPHA:178400
HP:0008954	Intrinsic hand muscle atrophy	8291	DYSF	ORPHA:45448
HP:0008954	Intrinsic hand muscle atrophy	547	KIF1A	OMIM:614213
HP:0008954	Intrinsic hand muscle atrophy	57716	PRX	OMIM:614895
HP:0008954	Intrinsic hand muscle atrophy	3035	HARS1	ORPHA:488333
HP:0008954	Intrinsic hand muscle atrophy	400916	CHCHD10	ORPHA:276435
HP:0008954	Intrinsic hand muscle atrophy	11155	LDB3	ORPHA:98912
HP:0008954	Intrinsic hand muscle atrophy	5376	PMP22	ORPHA:3115
HP:0008954	Intrinsic hand muscle atrophy	4359	MPZ	ORPHA:3115
HP:0001790	Nonimmune hydrops fetalis	54345	SOX18	OMIM:137940
HP:0001790	Nonimmune hydrops fetalis	54345	SOX18	OMIM:607823
HP:0001790	Nonimmune hydrops fetalis	3930	LBR	OMIM:215140
HP:0001790	Nonimmune hydrops fetalis	2294	FOXF1	OMIM:265380
HP:0001790	Nonimmune hydrops fetalis	55388	MCM10	OMIM:619313
HP:0001790	Nonimmune hydrops fetalis	4593	MUSK	OMIM:208150
HP:0001790	Nonimmune hydrops fetalis	5530	PPP3CA	OMIM:618265
HP:0001790	Nonimmune hydrops fetalis	9780	PIEZO1	OMIM:616843
HP:0001790	Nonimmune hydrops fetalis	1277	COL1A1	OMIM:166210
HP:0001790	Nonimmune hydrops fetalis	1278	COL1A2	OMIM:166210
HP:0001790	Nonimmune hydrops fetalis	55901	THSD1	OMIM:620244
HP:0001790	Nonimmune hydrops fetalis	54675	CRLS1	OMIM:620167
HP:0001790	Nonimmune hydrops fetalis	147372	CCBE1	OMIM:235510
HP:0001790	Nonimmune hydrops fetalis	2629	GBA1	OMIM:608013
HP:0001790	Nonimmune hydrops fetalis	7389	UROD	ORPHA:95159
HP:0001790	Nonimmune hydrops fetalis	6331	SCN5A	OMIM:603830
HP:0001790	Nonimmune hydrops fetalis	5313	PKLR	OMIM:266200
HP:0001790	Nonimmune hydrops fetalis	6135	RPL11	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6138	RPL15	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6229	RPS24	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6125	RPL5	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6204	RPS10	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6224	RPS20	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6165	RPL35A	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	2623	GATA1	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	2623	GATA1	ORPHA:79277
HP:0001790	Nonimmune hydrops fetalis	6223	RPS19	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6232	RPS27	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6231	RPS26	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	11224	RPL35	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6160	RPL31	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6218	RPS17	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6201	RPS7	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6155	RPL27	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6154	RPL26	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6210	RPS15A	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	90121	TSR2	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6141	RPL18	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6235	RPS29	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	6234	RPS28	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	51816	ADA2	ORPHA:124
HP:0001790	Nonimmune hydrops fetalis	57538	ALPK3	OMIM:618052
HP:0001790	Nonimmune hydrops fetalis	4716	NDUFB10	OMIM:619003
HP:0001790	Nonimmune hydrops fetalis	23395	LARS2	OMIM:617021
HP:0001790	Nonimmune hydrops fetalis	10203	CALCRL	OMIM:618773
HP:0001790	Nonimmune hydrops fetalis	2324	FLT4	OMIM:153100
HP:0001790	Nonimmune hydrops fetalis	79587	CARS2	ORPHA:477774
HP:0001790	Nonimmune hydrops fetalis	2050	EPHB4	OMIM:617300
HP:0001790	Nonimmune hydrops fetalis	2050	EPHB4	ORPHA:137667
HP:0001790	Nonimmune hydrops fetalis	2303	FOXC2	OMIM:153400
HP:0001790	Nonimmune hydrops fetalis	55278	QRSL1	OMIM:618835
HP:0001790	Nonimmune hydrops fetalis	23426	GRIP1	OMIM:617667
HP:0001790	Nonimmune hydrops fetalis	5188	GATB	OMIM:618838
HP:0001790	Nonimmune hydrops fetalis	9971	NR1H4	OMIM:617049
HP:0001790	Nonimmune hydrops fetalis	5921	RASA1	ORPHA:137667
HP:0001790	Nonimmune hydrops fetalis	29969	MDFIC	OMIM:620014
HP:0001790	Nonimmune hydrops fetalis	23169	SLC35D1	OMIM:269250
HP:0001790	Nonimmune hydrops fetalis	7390	UROS	ORPHA:79277
HP:0001790	Nonimmune hydrops fetalis	283459	GATC	OMIM:618839
HP:0001790	Nonimmune hydrops fetalis	56052	ALG1	OMIM:608540
HP:0001790	Nonimmune hydrops fetalis	5476	CTSA	OMIM:256540
HP:0001790	Nonimmune hydrops fetalis	5373	PMM2	OMIM:212065
HP:0001791	Fetal ascites	2783	GNB2	OMIM:619503
HP:0001791	Fetal ascites	10577	NPC2	OMIM:607625
HP:0001791	Fetal ascites	3295	HSD17B4	OMIM:261515
HP:0001791	Fetal ascites	29969	MDFIC	OMIM:620014
HP:0001791	Fetal ascites	4864	NPC1	OMIM:257220
HP:0001791	Fetal ascites	5745	PTH1R	OMIM:215045
HP:0001791	Fetal ascites	6007	RHD	OMIM:619462
HP:0001791	Fetal ascites	1984	EIF5A	OMIM:619376
HP:0001792	Small nail	9488	PIGB	OMIM:618580
HP:0001792	Small nail	4487	MSX1	OMIM:189500
HP:0001792	Small nail	10617	STAMBP	OMIM:614261
HP:0001792	Small nail	23013	SPEN	OMIM:619312
HP:0001792	Small nail	6477	SIAH1	OMIM:619314
HP:0001792	Small nail	81607	NECTIN4	OMIM:613573
HP:0001792	Small nail	84529	CDIN1	OMIM:615631
HP:0001792	Small nail	5894	RAF1	OMIM:611553
HP:0001792	Small nail	3209	HOXA13	OMIM:140000
HP:0001792	Small nail	84942	WDR73	OMIM:251300
HP:0001792	Small nail	80144	FRAS1	OMIM:219000
HP:0001792	Small nail	64324	NSD1	ORPHA:821
HP:0001792	Small nail	64324	NSD1	OMIM:117550
HP:0001792	Small nail	29072	SETD2	ORPHA:821
HP:0001792	Small nail	10297	APC2	ORPHA:821
HP:0001792	Small nail	55593	OTUD5	OMIM:301056
HP:0001792	Small nail	51412	ACTL6B	OMIM:618470
HP:0001792	Small nail	8200	GDF5	OMIM:228900
HP:0001792	Small nail	56916	SMARCAD1	ORPHA:384
HP:0001792	Small nail	56916	SMARCAD1	OMIM:181600
HP:0001792	Small nail	29998	BICRA	OMIM:619325
HP:0001792	Small nail	473	RERE	OMIM:616975
HP:0001792	Small nail	55784	MCTP2	ORPHA:1596
HP:0001792	Small nail	4953	ODC1	ORPHA:544488
HP:0001792	Small nail	4953	ODC1	OMIM:619075
HP:0001792	Small nail	999	CDH1	OMIM:119580
HP:0001792	Small nail	150468	CKAP2L	ORPHA:3255
HP:0001792	Small nail	1294	COL7A1	ORPHA:79410
HP:0001792	Small nail	55650	PIGV	OMIM:239300
HP:0001792	Small nail	55650	PIGV	ORPHA:247262
HP:0001792	Small nail	7102	TSPAN7	OMIM:300210
HP:0001792	Small nail	56992	KIF15	ORPHA:261323
HP:0001792	Small nail	84992	PIGY	ORPHA:247262
HP:0001792	Small nail	84720	PIGO	ORPHA:247262
HP:0001792	Small nail	93210	PGAP3	ORPHA:247262
HP:0001792	Small nail	284098	PIGW	ORPHA:247262
HP:0001792	Small nail	27315	PGAP2	ORPHA:247262
HP:0001792	Small nail	9487	PIGL	ORPHA:247262
HP:0001792	Small nail	10940	POP1	OMIM:617396
HP:0001792	Small nail	51132	RLIM	OMIM:300978
HP:0001792	Small nail	3549	IHH	ORPHA:63446
HP:0001792	Small nail	3756	KCNH1	OMIM:135500
HP:0001792	Small nail	50814	NSDHL	OMIM:308050
HP:0001792	Small nail	6597	SMARCA4	ORPHA:1465
HP:0001792	Small nail	6598	SMARCB1	ORPHA:1465
HP:0001792	Small nail	6659	SOX4	ORPHA:1465
HP:0001792	Small nail	8289	ARID1A	ORPHA:1465
HP:0001792	Small nail	8289	ARID1A	OMIM:614607
HP:0001792	Small nail	5977	DPF2	ORPHA:1465
HP:0001792	Small nail	6601	SMARCC2	ORPHA:1465
HP:0001792	Small nail	6602	SMARCD1	ORPHA:1465
HP:0001792	Small nail	57492	ARID1B	ORPHA:1465
HP:0001792	Small nail	196528	ARID2	ORPHA:1465
HP:0001792	Small nail	6605	SMARCE1	ORPHA:1465
HP:0001792	Small nail	6664	SOX11	ORPHA:1465
HP:0001792	Small nail	284654	RSPO1	OMIM:610644
HP:0001792	Small nail	10804	GJB6	OMIM:129500
HP:0001792	Small nail	10804	GJB6	ORPHA:189
HP:0001792	Small nail	727857	BHLHA9	OMIM:607539
HP:0001792	Small nail	2068	ERCC2	OMIM:601675
HP:0001792	Small nail	8726	EED	OMIM:617561
HP:0001792	Small nail	5277	PIGA	OMIM:300868
HP:0001792	Small nail	3782	KCNN3	OMIM:618658
HP:0001792	Small nail	57572	DOCK6	OMIM:614219
HP:0001792	Small nail	2121	EVC	ORPHA:952
HP:0001792	Small nail	2121	EVC	OMIM:193530
HP:0001792	Small nail	132884	EVC2	ORPHA:952
HP:0001792	Small nail	132884	EVC2	OMIM:193530
HP:0001792	Small nail	242	ALOX12B	OMIM:242100
HP:0001792	Small nail	59344	ALOXE3	OMIM:242100
HP:0001792	Small nail	84065	TMEM222	OMIM:619470
HP:0001792	Small nail	80326	WNT10A	OMIM:224750
HP:0001792	Small nail	8493	PPM1D	OMIM:617450
HP:0001792	Small nail	134218	DNAJC21	OMIM:617052
HP:0001792	Small nail	55651	NHP2	OMIM:224230
HP:0001792	Small nail	55505	NOP10	OMIM:224230
HP:0001792	Small nail	29957	SLC25A24	OMIM:612289
HP:0001792	Small nail	57514	ARHGAP31	OMIM:100300
HP:0001792	Small nail	5828	PEX2	OMIM:614866
HP:0001792	Small nail	10283	CWC27	OMIM:250410
HP:0001792	Small nail	10283	CWC27	ORPHA:166035
HP:0001792	Small nail	8626	TP63	OMIM:129400
HP:0001792	Small nail	9719	ADAMTSL2	OMIM:231050
HP:0001792	Small nail	11128	POLR3A	OMIM:264090
HP:0001792	Small nail	8085	KMT2D	OMIM:620186
HP:0001792	Small nail	136647	MPLKIP	OMIM:234050
HP:0001792	Small nail	2263	FGFR2	OMIM:123790
HP:0001792	Small nail	7291	TWIST1	OMIM:617746
HP:0001792	Small nail	526	ATP6V1B2	OMIM:124480
HP:0001792	Small nail	388015	RTL1	ORPHA:96334
HP:0001792	Small nail	8788	DLK1	ORPHA:96334
HP:0001792	Small nail	55384	MEG3	ORPHA:96334
HP:0001792	Small nail	51085	MLXIPL	OMIM:194050
HP:0001792	Small nail	2006	ELN	OMIM:194050
HP:0001792	Small nail	4920	ROR2	OMIM:268310
HP:0001792	Small nail	2239	GPC4	ORPHA:373
HP:0001792	Small nail	2719	GPC3	ORPHA:373
HP:0001792	Small nail	57479	PRR12	OMIM:619539
HP:0001792	Small nail	79087	ALG12	ORPHA:79324
HP:0001792	Small nail	10195	ALG3	OMIM:601110
HP:0001792	Small nail	8295	TRRAP	OMIM:618454
HP:0001792	Small nail	57647	DHX37	OMIM:618731
HP:0001792	Small nail	54101	RIPK4	OMIM:263650
HP:0001792	Small nail	341208	HEPHL1	OMIM:261990
HP:0001792	Small nail	25871	NEPRO	OMIM:618853
HP:0001792	Small nail	25886	POC1A	OMIM:614813
HP:0001792	Small nail	10075	HUWE1	OMIM:309590
HP:0001792	Small nail	3981	LIG4	ORPHA:235
HP:0001792	Small nail	54888	NSUN2	ORPHA:235
HP:0001792	Small nail	9997	SCO2	OMIM:604377
HP:0001792	Small nail	9894	TELO2	ORPHA:488642
HP:0001792	Small nail	6804	STX1A	ORPHA:904
HP:0001792	Small nail	7461	CLIP2	ORPHA:904
HP:0001792	Small nail	84277	DNAJC30	ORPHA:904
HP:0001792	Small nail	8468	FKBP6	ORPHA:904
HP:0001792	Small nail	5982	RFC2	ORPHA:904
HP:0001792	Small nail	2969	GTF2I	ORPHA:904
HP:0001792	Small nail	3984	LIMK1	ORPHA:904
HP:0001792	Small nail	9569	GTF2IRD1	ORPHA:904
HP:0001792	Small nail	155382	VPS37D	ORPHA:904
HP:0001792	Small nail	155368	METTL27	ORPHA:904
HP:0001792	Small nail	114049	BUD23	ORPHA:904
HP:0001792	Small nail	7458	EIF4H	ORPHA:904
HP:0001792	Small nail	84163	GTF2IRD2	ORPHA:904
HP:0001792	Small nail	9275	BCL7B	ORPHA:904
HP:0001792	Small nail	26608	TBL2	ORPHA:904
HP:0001792	Small nail	653361	NCF1	ORPHA:904
HP:0001792	Small nail	135886	TMEM270	ORPHA:904
HP:0001792	Small nail	9031	BAZ1B	ORPHA:904
HP:0001792	Small nail	3636	INPPL1	ORPHA:3144
HP:0001792	Small nail	23169	SLC35D1	ORPHA:3144
HP:0001792	Small nail	85358	SHANK3	OMIM:606232
HP:0001792	Small nail	85358	SHANK3	ORPHA:48652
HP:0001792	Small nail	23028	KDM1A	OMIM:616728
HP:0001792	Small nail	23028	KDM1A	ORPHA:477993
HP:0001792	Small nail	27125	AFF4	ORPHA:444077
HP:0001792	Small nail	9496	TBX4	ORPHA:238578
HP:0001792	Small nail	7750	ZMYM2	OMIM:619522
HP:0001792	Small nail	79971	WLS	OMIM:619648
HP:0001792	Small nail	6926	TBX3	ORPHA:3138
HP:0001792	Small nail	79068	FTO	OMIM:612938
HP:0001792	Small nail	7547	ZIC3	OMIM:306955
HP:0001792	Small nail	1376	CPT2	OMIM:608836
HP:0001792	Small nail	1984	EIF5A	OMIM:619376
HP:0001792	Small nail	2260	FGFR1	OMIM:166250
HP:0001792	Small nail	1801	DPH1	OMIM:616901
HP:0001792	Small nail	1801	DPH1	ORPHA:459061
HP:0001792	Small nail	26123	TCTN3	ORPHA:2753
HP:0001792	Small nail	23512	SUZ12	ORPHA:3447
HP:0001792	Small nail	2146	EZH2	ORPHA:3447
HP:0001792	Small nail	3265	HRAS	ORPHA:3071
HP:0001792	Small nail	5566	PRKACA	ORPHA:289
HP:0001792	Small nail	5567	PRKACB	ORPHA:289
HP:0001792	Small nail	2735	GLI1	ORPHA:289
HP:0001792	Small nail	51626	DYNC2LI1	ORPHA:289
HP:0001792	Small nail	8036	SHOC2	ORPHA:2701
HP:0001792	Small nail	5500	PPP1CB	ORPHA:2701
HP:0001792	Small nail	5339	PLEC	ORPHA:257
HP:0001792	Small nail	6197	RPS6KA3	ORPHA:192
HP:0001792	Small nail	51360	MBTPS2	ORPHA:2273
HP:0001792	Small nail	57061	HYMAI	ORPHA:96191
HP:0001792	Small nail	5325	PLAGL1	ORPHA:96191
HP:0001792	Small nail	9791	PTDSS1	ORPHA:2658
HP:0001792	Small nail	23556	PIGN	ORPHA:2059
HP:0001792	Small nail	23556	PIGN	ORPHA:280633
HP:0001792	Small nail	23219	FBXO28	OMIM:619777
HP:0001792	Small nail	80152	CENPT	OMIM:618702
HP:0001792	Small nail	8517	IKBKG	ORPHA:464
HP:0001792	Small nail	9897	WASHC5	ORPHA:7
HP:0001792	Small nail	28952	CCDC22	ORPHA:7
HP:0001792	Small nail	7020	TFAP2A	OMIM:113620
HP:0001792	Small nail	6473	SHOX	ORPHA:240
HP:0001792	Small nail	57465	TBC1D24	OMIM:220500
HP:0001792	Small nail	117581	TWIST2	OMIM:200110
HP:0001792	Small nail	1301	COL11A1	OMIM:228520
HP:0001792	Small nail	1301	COL11A1	ORPHA:2021
HP:0001792	Small nail	3481	IGF2	ORPHA:397590
HP:0001792	Small nail	1028	CDKN1C	ORPHA:397590
HP:0001792	Small nail	5324	PLAG1	ORPHA:397590
HP:0001792	Small nail	8091	HMGA2	ORPHA:397590
HP:0001792	Small nail	1302	COL11A2	ORPHA:2021
HP:0001792	Small nail	3516	RBPJ	ORPHA:974
HP:0001792	Small nail	4851	NOTCH1	ORPHA:974
HP:0001792	Small nail	285203	EOGT	ORPHA:974
HP:0001792	Small nail	54567	DLL4	ORPHA:974
HP:0001792	Small nail	58499	ZNF462	OMIM:618619
HP:0001792	Small nail	168667	BMPER	OMIM:608022
HP:0001792	Small nail	6418	SET	OMIM:618106
HP:0001792	Small nail	5528	PPP2R5D	ORPHA:457279
HP:0001792	Small nail	3852	KRT5	OMIM:131960
HP:0001792	Small nail	5281	PIGF	OMIM:619356
HP:0001808	Fragile nails	1947	EFNB1	OMIM:304110
HP:0001808	Fragile nails	818	CAMK2G	OMIM:618522
HP:0001808	Fragile nails	3914	LAMB3	OMIM:226650
HP:0001808	Fragile nails	6603	SMARCD2	OMIM:617475
HP:0001808	Fragile nails	57152	SLURP1	OMIM:248300
HP:0001808	Fragile nails	404672	GTF2H5	ORPHA:33364
HP:0001808	Fragile nails	833	CARS1	ORPHA:33364
HP:0001808	Fragile nails	2068	ERCC2	ORPHA:33364
HP:0001808	Fragile nails	2068	ERCC2	OMIM:601675
HP:0001808	Fragile nails	7737	RNF113A	ORPHA:33364
HP:0001808	Fragile nails	136647	MPLKIP	ORPHA:33364
HP:0001808	Fragile nails	6897	TARS1	ORPHA:33364
HP:0001808	Fragile nails	2071	ERCC3	ORPHA:33364
HP:0001808	Fragile nails	2961	GTF2E2	ORPHA:33364
HP:0001808	Fragile nails	3861	KRT14	OMIM:161000
HP:0001808	Fragile nails	3861	KRT14	ORPHA:69087
HP:0001808	Fragile nails	23309	SIN3B	ORPHA:500166
HP:0001808	Fragile nails	25942	SIN3A	ORPHA:500166
HP:0001808	Fragile nails	25942	SIN3A	OMIM:613406
HP:0001808	Fragile nails	1747	DLX3	OMIM:190320
HP:0001808	Fragile nails	1747	DLX3	ORPHA:3352
HP:0001808	Fragile nails	1294	COL7A1	ORPHA:158676
HP:0001808	Fragile nails	162	AP1B1	OMIM:242150
HP:0001808	Fragile nails	2512	FTL	ORPHA:254704
HP:0001808	Fragile nails	341208	HEPHL1	OMIM:261990
HP:0001808	Fragile nails	5587	PRKD1	OMIM:617364
HP:0001808	Fragile nails	23545	ATP6V0A2	OMIM:278250
HP:0001808	Fragile nails	1832	DSP	OMIM:615821
HP:0001808	Fragile nails	3265	HRAS	OMIM:218040
HP:0001808	Fragile nails	4000	LMNA	ORPHA:79474
HP:0001808	Fragile nails	2697	GJA1	OMIM:164200
HP:0001808	Fragile nails	4487	MSX1	ORPHA:2228
HP:0001808	Fragile nails	7227	TRPS1	ORPHA:77258
HP:0001799	Short nail	4882	NPR2	OMIM:602875
HP:0001799	Short nail	3549	IHH	OMIM:607778
HP:0001799	Short nail	2317	FLNB	OMIM:150250
HP:0001799	Short nail	2317	FLNB	ORPHA:503
HP:0001799	Short nail	112752	IFT43	OMIM:614099
HP:0001799	Short nail	1806	DPYD	ORPHA:1675
HP:0001799	Short nail	4853	NOTCH2	OMIM:102500
HP:0001799	Short nail	4000	LMNA	ORPHA:1662
HP:0001799	Short nail	10269	ZMPSTE24	ORPHA:1662
HP:0001799	Short nail	10269	ZMPSTE24	OMIM:275210
HP:0001799	Short nail	23545	ATP6V0A2	OMIM:278250
HP:0001799	Short nail	2719	GPC3	OMIM:312870
HP:0001799	Short nail	2239	GPC4	OMIM:312870
HP:0001799	Short nail	6662	SOX9	OMIM:114290
HP:0001799	Short nail	80326	WNT10A	OMIM:257980
HP:0001799	Short nail	55764	IFT122	OMIM:218330
HP:0001799	Short nail	126792	B3GALT6	OMIM:271640
HP:0008959	Distal upper limb muscle weakness	7143	TNR	OMIM:619653
HP:0008959	Distal upper limb muscle weakness	122622	ADSS1	OMIM:617030
HP:0008959	Distal upper limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0008959	Distal upper limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0008959	Distal upper limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0008959	Distal upper limb muscle weakness	7415	VCP	ORPHA:435387
HP:0008959	Distal upper limb muscle weakness	7415	VCP	OMIM:616687
HP:0008959	Distal upper limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0008959	Distal upper limb muscle weakness	57863	CADM3	OMIM:619519
HP:0008959	Distal upper limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0008959	Distal upper limb muscle weakness	64856	VWA1	OMIM:619216
HP:0008959	Distal upper limb muscle weakness	80208	SPG11	OMIM:616668
HP:0008959	Distal upper limb muscle weakness	7273	TTN	ORPHA:609
HP:0008959	Distal upper limb muscle weakness	8878	SQSTM1	ORPHA:603
HP:0008959	Distal upper limb muscle weakness	7072	TIA1	ORPHA:603
HP:0008959	Distal upper limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0008959	Distal upper limb muscle weakness	4747	NEFL	OMIM:607684
HP:0008959	Distal upper limb muscle weakness	203859	ANO5	OMIM:613319
HP:0008959	Distal upper limb muscle weakness	54332	GDAP1	ORPHA:101097
HP:0008959	Distal upper limb muscle weakness	773	CACNA1A	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	112476	PRRT2	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	6323	SCN1A	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	477	ATP1A2	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	3098	HK1	ORPHA:99953
HP:0008959	Distal upper limb muscle weakness	3098	HK1	OMIM:605285
HP:0008959	Distal upper limb muscle weakness	8291	DYSF	ORPHA:268
HP:0008959	Distal upper limb muscle weakness	4311	MME	ORPHA:497764
HP:0008959	Distal upper limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0008959	Distal upper limb muscle weakness	23676	SMPX	OMIM:301075
HP:0008959	Distal upper limb muscle weakness	59345	GNB4	OMIM:615185
HP:0008959	Distal upper limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0008959	Distal upper limb muscle weakness	6261	RYR1	ORPHA:178145
HP:0008959	Distal upper limb muscle weakness	3714	JAG2	OMIM:619566
HP:0008959	Distal upper limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0008959	Distal upper limb muscle weakness	6652	SORD	OMIM:618912
HP:0008959	Distal upper limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0008959	Distal upper limb muscle weakness	7453	WARS1	OMIM:617721
HP:0008959	Distal upper limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0008959	Distal upper limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0008959	Distal upper limb muscle weakness	90523	MLIP	OMIM:620138
HP:0008959	Distal upper limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0008959	Distal upper limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0008959	Distal upper limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0008955	Progressive distal muscular atrophy	427	ASAH1	OMIM:159950
HP:0008955	Progressive distal muscular atrophy	11284	PNKP	ORPHA:459033
HP:0008955	Progressive distal muscular atrophy	59341	TRPV4	OMIM:181405
HP:0008962	Calf muscle hypoplasia	2201	FBN2	OMIM:121050
HP:0008962	Calf muscle hypoplasia	5376	PMP22	ORPHA:90658
HP:0008962	Calf muscle hypoplasia	859	CAV3	ORPHA:488650
HP:0008963	Tibialis muscle weakness	8291	DYSF	ORPHA:45448
HP:0008963	Tibialis muscle weakness	8291	DYSF	ORPHA:178400
HP:0008963	Tibialis muscle weakness	7273	TTN	ORPHA:178464
HP:0008963	Tibialis muscle weakness	91574	MTRFR	ORPHA:320375
HP:0008963	Tibialis muscle weakness	4625	MYH7	ORPHA:437572
HP:0008963	Tibialis muscle weakness	10020	GNE	ORPHA:602
HP:0008963	Tibialis muscle weakness	10755	GIPC1	ORPHA:98897
HP:0008963	Tibialis muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0008964	Nonprogressive muscular atrophy	59341	TRPV4	OMIM:600175
HP:0008964	Nonprogressive muscular atrophy	59341	TRPV4	ORPHA:1216
HP:0008968	Muscle hypertrophy of the lower extremities	4000	LMNA	ORPHA:280365
HP:0008968	Muscle hypertrophy of the lower extremities	6736	SRY	ORPHA:1772
HP:0008968	Muscle hypertrophy of the lower extremities	5921	RASA1	ORPHA:90307
HP:0008968	Muscle hypertrophy of the lower extremities	1180	CLCN1	OMIM:255700
HP:0008968	Muscle hypertrophy of the lower extremities	6445	SGCG	ORPHA:353
HP:0008968	Muscle hypertrophy of the lower extremities	10585	POMT1	OMIM:609308
HP:0008968	Muscle hypertrophy of the lower extremities	10585	POMT1	ORPHA:86812
HP:0008968	Muscle hypertrophy of the lower extremities	10585	POMT1	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	10585	POMT1	OMIM:613155
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	OMIM:603689
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	ORPHA:178464
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	OMIM:611705
HP:0008968	Muscle hypertrophy of the lower extremities	10367	MICU1	OMIM:615673
HP:0008968	Muscle hypertrophy of the lower extremities	859	CAV3	OMIM:606072
HP:0008968	Muscle hypertrophy of the lower extremities	859	CAV3	OMIM:614321
HP:0008968	Muscle hypertrophy of the lower extremities	6606	SMN1	OMIM:271150
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	OMIM:310200
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	ORPHA:206546
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	ORPHA:98896
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:253800
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:611615
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:611588
HP:0008968	Muscle hypertrophy of the lower extremities	274	BIN1	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	64419	MTMR14	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	4618	MYF6	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	1785	DNM2	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	6261	RYR1	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	6442	SGCA	OMIM:608099
HP:0008968	Muscle hypertrophy of the lower extremities	5339	PLEC	ORPHA:254361
HP:0008968	Muscle hypertrophy of the lower extremities	8291	DYSF	ORPHA:268
HP:0008968	Muscle hypertrophy of the lower extremities	8291	DYSF	ORPHA:45448
HP:0008968	Muscle hypertrophy of the lower extremities	825	CAPN3	ORPHA:267
HP:0008968	Muscle hypertrophy of the lower extremities	5346	PLIN1	ORPHA:280356
HP:0008968	Muscle hypertrophy of the lower extremities	729920	CRPPA	OMIM:616052
HP:0008968	Muscle hypertrophy of the lower extremities	6576	SLC25A1	OMIM:618197
HP:0008968	Muscle hypertrophy of the lower extremities	63924	CIDEC	ORPHA:435651
HP:0008968	Muscle hypertrophy of the lower extremities	400916	CHCHD10	OMIM:615048
HP:0008968	Muscle hypertrophy of the lower extremities	3736	KCNA1	ORPHA:37612
HP:0008968	Muscle hypertrophy of the lower extremities	9215	LARGE1	OMIM:608840
HP:0008968	Muscle hypertrophy of the lower extremities	9215	LARGE1	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	OMIM:607155
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	OMIM:606612
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	ORPHA:34515
HP:0008968	Muscle hypertrophy of the lower extremities	29925	GMPPB	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	29954	POMT2	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	29954	POMT2	ORPHA:206559
HP:0008968	Muscle hypertrophy of the lower extremities	6444	SGCD	OMIM:601287
HP:0008968	Muscle hypertrophy of the lower extremities	2483	FRG1	OMIM:158900
HP:0008968	Muscle hypertrophy of the lower extremities	146862	UNC45B	OMIM:619178
HP:0008968	Muscle hypertrophy of the lower extremities	64208	POPDC3	OMIM:618848
HP:0008968	Muscle hypertrophy of the lower extremities	55624	POMGNT1	OMIM:613157
HP:0008968	Muscle hypertrophy of the lower extremities	4625	MYH7	OMIM:255160
HP:0008968	Muscle hypertrophy of the lower extremities	80208	SPG11	OMIM:616668
HP:0008968	Muscle hypertrophy of the lower extremities	55679	LIMS2	OMIM:616827
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	OMIM:613319
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	OMIM:611307
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	ORPHA:206549
HP:0008968	Muscle hypertrophy of the lower extremities	1605	DAG1	ORPHA:280333
HP:0008968	Muscle hypertrophy of the lower extremities	84892	POMGNT2	OMIM:618135
HP:0008968	Muscle hypertrophy of the lower extremities	8557	TCAP	OMIM:601954
HP:0008968	Muscle hypertrophy of the lower extremities	54344	DPM3	ORPHA:263494
HP:0008968	Muscle hypertrophy of the lower extremities	51776	MAP3K20	OMIM:617760
HP:0008968	Muscle hypertrophy of the lower extremities	3908	LAMA2	OMIM:618138
HP:0008968	Muscle hypertrophy of the lower extremities	8449	DHX16	OMIM:618733
HP:0008968	Muscle hypertrophy of the lower extremities	367	AR	OMIM:313200
HP:0008968	Muscle hypertrophy of the lower extremities	6443	SGCB	ORPHA:119
HP:0008968	Muscle hypertrophy of the lower extremities	8425	LTBP4	ORPHA:98896
HP:0008968	Muscle hypertrophy of the lower extremities	5376	PMP22	ORPHA:101081
HP:0008969	Leg muscle stiffness	9829	DNAJC6	ORPHA:391411
HP:0008969	Leg muscle stiffness	5420	PODXL	ORPHA:391411
HP:0008969	Leg muscle stiffness	8867	SYNJ1	ORPHA:391411
HP:0008969	Leg muscle stiffness	8867	SYNJ1	OMIM:615530
HP:0008969	Leg muscle stiffness	55129	ANO10	ORPHA:284289
HP:0008969	Leg muscle stiffness	547	KIF1A	ORPHA:101010
HP:0008969	Leg muscle stiffness	1410	CRYAB	OMIM:608810
HP:0008969	Leg muscle stiffness	3798	KIF5A	ORPHA:100991
HP:0008969	Leg muscle stiffness	5297	PI4KA	OMIM:619621
HP:0008969	Leg muscle stiffness	23503	ZFYVE26	ORPHA:100996
HP:0008969	Leg muscle stiffness	6683	SPAST	ORPHA:100985
HP:0008969	Leg muscle stiffness	23400	ATP13A2	ORPHA:306674
HP:0008969	Leg muscle stiffness	23400	ATP13A2	OMIM:606693
HP:0008969	Leg muscle stiffness	215	ABCD1	ORPHA:139399
HP:0008969	Leg muscle stiffness	55157	DARS2	ORPHA:137898
HP:0008969	Leg muscle stiffness	4508	MT-ATP6	ORPHA:320360
HP:0008969	Leg muscle stiffness	6843	VAMP1	OMIM:108600
HP:0008969	Leg muscle stiffness	6843	VAMP1	ORPHA:251282
HP:0008969	Leg muscle stiffness	11155	LDB3	ORPHA:98912
HP:0008970	Scapulohumeral muscular dystrophy	2483	FRG1	OMIM:158900
HP:0008970	Scapulohumeral muscular dystrophy	23347	SMCHD1	OMIM:158901
HP:0008972	Decreased activity of mitochondrial respiratory chain	200205	IBA57	ORPHA:468661
HP:0008972	Decreased activity of mitochondrial respiratory chain	200205	IBA57	OMIM:615330
HP:0008972	Decreased activity of mitochondrial respiratory chain	112812	FDX2	OMIM:251900
HP:0008972	Decreased activity of mitochondrial respiratory chain	6390	SDHB	OMIM:619224
HP:0008972	Decreased activity of mitochondrial respiratory chain	51102	MECR	ORPHA:508093
HP:0008972	Decreased activity of mitochondrial respiratory chain	6392	SDHD	OMIM:619167
HP:0008972	Decreased activity of mitochondrial respiratory chain	64116	SLC39A8	ORPHA:468699
HP:0008972	Decreased activity of mitochondrial respiratory chain	10128	LRPPRC	OMIM:220111
HP:0008972	Decreased activity of mitochondrial respiratory chain	10128	LRPPRC	ORPHA:70472
HP:0008972	Decreased activity of mitochondrial respiratory chain	9997	SCO2	OMIM:604377
HP:0008972	Decreased activity of mitochondrial respiratory chain	51241	COX16	OMIM:619355
HP:0008972	Decreased activity of mitochondrial respiratory chain	80308	FLAD1	OMIM:255100
HP:0008972	Decreased activity of mitochondrial respiratory chain	57176	VARS2	OMIM:615917
HP:0008972	Decreased activity of mitochondrial respiratory chain	92667	MGME1	OMIM:615084
HP:0008972	Decreased activity of mitochondrial respiratory chain	6182	MRPL12	OMIM:618951
HP:0008972	Decreased activity of mitochondrial respiratory chain	5428	POLG	OMIM:613662
HP:0008972	Decreased activity of mitochondrial respiratory chain	51649	MRPS23	OMIM:618952
HP:0008972	Decreased activity of mitochondrial respiratory chain	28958	COA3	OMIM:619058
HP:0008972	Decreased activity of mitochondrial respiratory chain	54802	TRIT1	OMIM:617873
HP:0008972	Decreased activity of mitochondrial respiratory chain	116228	COX20	OMIM:619054
HP:0008972	Decreased activity of mitochondrial respiratory chain	388753	COA6	OMIM:616501
HP:0008972	Decreased activity of mitochondrial respiratory chain	493753	COA5	OMIM:616500
HP:0008972	Decreased activity of mitochondrial respiratory chain	29960	MRM2	OMIM:618567
HP:0008972	Decreased activity of mitochondrial respiratory chain	84334	COA8	OMIM:619061
HP:0008972	Decreased activity of mitochondrial respiratory chain	1339	COX6A2	OMIM:619062
HP:0008972	Decreased activity of mitochondrial respiratory chain	100303755	PET117	OMIM:619063
HP:0008972	Decreased activity of mitochondrial respiratory chain	80324	PUS1	OMIM:600462
HP:0008972	Decreased activity of mitochondrial respiratory chain	9377	COX5A	OMIM:619064
HP:0008972	Decreased activity of mitochondrial respiratory chain	1327	COX4I1	OMIM:619060
HP:0008972	Decreased activity of mitochondrial respiratory chain	64432	MRPS25	OMIM:619025
HP:0008972	Decreased activity of mitochondrial respiratory chain	57505	AARS2	OMIM:614096
HP:0008972	Decreased activity of mitochondrial respiratory chain	115286	SLC25A26	OMIM:616794
HP:0008972	Decreased activity of mitochondrial respiratory chain	50484	RRM2B	OMIM:612075
HP:0008972	Decreased activity of mitochondrial respiratory chain	84705	GTPBP3	OMIM:616198
HP:0008972	Decreased activity of mitochondrial respiratory chain	84705	GTPBP3	ORPHA:444013
HP:0008972	Decreased activity of mitochondrial respiratory chain	9131	AIFM1	OMIM:300816
HP:0008972	Decreased activity of mitochondrial respiratory chain	79731	NARS2	OMIM:616239
HP:0008972	Decreased activity of mitochondrial respiratory chain	6389	SDHA	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	80704	SLC19A3	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	91942	NDUFAF2	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	6834	SURF1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4723	NDUFV1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	55572	FOXRED1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4729	NDUFV2	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	55967	NDUFA12	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	51204	TACO1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4720	NDUFS2	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4728	NDUFS8	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	137682	NDUFAF6	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4722	NDUFS3	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	79133	NDUFAF5	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	5160	PDHA1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	100131801	PET100	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	1355	COX15	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	1892	ECHS1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	123263	MTFMT	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	51079	NDUFA13	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	374291	NDUFS7	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4705	NDUFA10	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	51601	LIPT1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4719	NDUFS1	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4695	NDUFA2	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4697	NDUFA4	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	4704	NDUFA9	ORPHA:255241
HP:0008972	Decreased activity of mitochondrial respiratory chain	27247	NFU1	OMIM:605711
HP:0008972	Decreased activity of mitochondrial respiratory chain	3735	KARS1	OMIM:619147
HP:0008972	Decreased activity of mitochondrial respiratory chain	8803	SUCLA2	OMIM:612073
HP:0008972	Decreased activity of mitochondrial respiratory chain	2671	GFER	OMIM:613076
HP:0008972	Decreased activity of mitochondrial respiratory chain	4702	NDUFA8	OMIM:619272
HP:0008972	Decreased activity of mitochondrial respiratory chain	54539	NDUFB11	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	54539	NDUFB11	OMIM:301021
HP:0008972	Decreased activity of mitochondrial respiratory chain	25915	NDUFAF3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	25915	NDUFAF3	OMIM:618240
HP:0008972	Decreased activity of mitochondrial respiratory chain	51103	NDUFAF1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	51103	NDUFAF1	OMIM:618234
HP:0008972	Decreased activity of mitochondrial respiratory chain	51300	TIMMDC1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	51300	TIMMDC1	OMIM:618251
HP:0008972	Decreased activity of mitochondrial respiratory chain	4716	NDUFB10	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4716	NDUFB10	OMIM:619003
HP:0008972	Decreased activity of mitochondrial respiratory chain	284184	NDUFAF8	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	284184	NDUFAF8	OMIM:618776
HP:0008972	Decreased activity of mitochondrial respiratory chain	55863	TMEM126B	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	55863	TMEM126B	OMIM:618250
HP:0008972	Decreased activity of mitochondrial respiratory chain	4535	MT-ND1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4537	MT-ND3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4694	NDUFA1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4694	NDUFA1	OMIM:301020
HP:0008972	Decreased activity of mitochondrial respiratory chain	4726	NDUFS6	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4726	NDUFS6	OMIM:618232
HP:0008972	Decreased activity of mitochondrial respiratory chain	126328	NDUFA11	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	126328	NDUFA11	OMIM:618236
HP:0008972	Decreased activity of mitochondrial respiratory chain	4709	NDUFB3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4709	NDUFB3	OMIM:618246
HP:0008972	Decreased activity of mitochondrial respiratory chain	80224	NUBPL	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	80224	NUBPL	OMIM:618242
HP:0008972	Decreased activity of mitochondrial respiratory chain	29078	NDUFAF4	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	29078	NDUFAF4	OMIM:618237
HP:0008972	Decreased activity of mitochondrial respiratory chain	4700	NDUFA6	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4700	NDUFA6	OMIM:618253
HP:0008972	Decreased activity of mitochondrial respiratory chain	4536	MT-ND2	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4715	NDUFB9	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4715	NDUFB9	OMIM:618245
HP:0008972	Decreased activity of mitochondrial respiratory chain	4718	NDUFC2	OMIM:619170
HP:0008972	Decreased activity of mitochondrial respiratory chain	55037	PTCD3	OMIM:619057
HP:0008972	Decreased activity of mitochondrial respiratory chain	4556	MT-TE	ORPHA:254864
HP:0008972	Decreased activity of mitochondrial respiratory chain	55687	TRMU	ORPHA:254864
HP:0008972	Decreased activity of mitochondrial respiratory chain	4714	NDUFB8	OMIM:618252
HP:0008972	Decreased activity of mitochondrial respiratory chain	28976	ACAD9	ORPHA:99901
HP:0008972	Decreased activity of mitochondrial respiratory chain	28976	ACAD9	OMIM:611126
HP:0008972	Decreased activity of mitochondrial respiratory chain	122961	ISCA2	OMIM:616370
HP:0008972	Decreased activity of mitochondrial respiratory chain	60528	ELAC2	OMIM:615440
HP:0008972	Decreased activity of mitochondrial respiratory chain	119559	SFXN4	OMIM:615578
HP:0008972	Decreased activity of mitochondrial respiratory chain	1468	SLC25A10	OMIM:618972
HP:0008972	Decreased activity of mitochondrial respiratory chain	4713	NDUFB7	OMIM:620135
HP:0008972	Decreased activity of mitochondrial respiratory chain	26235	FBXL4	OMIM:615471
HP:0008972	Decreased activity of mitochondrial respiratory chain	1537	CYC1	OMIM:615453
HP:0008972	Decreased activity of mitochondrial respiratory chain	63899	NSUN3	OMIM:619012
HP:0008972	Decreased activity of mitochondrial respiratory chain	498	ATP5F1A	OMIM:616045
HP:0008972	Decreased activity of mitochondrial respiratory chain	27089	UQCRQ	OMIM:615159
HP:0008972	Decreased activity of mitochondrial respiratory chain	4724	NDUFS4	OMIM:252010
HP:0008972	Decreased activity of mitochondrial respiratory chain	7084	TK2	OMIM:609560
HP:0008972	Decreased activity of mitochondrial respiratory chain	54902	TTC19	OMIM:615157
HP:0008972	Decreased activity of mitochondrial respiratory chain	7381	UQCRB	OMIM:615158
HP:0008972	Decreased activity of mitochondrial respiratory chain	4358	MPV17	OMIM:256810
HP:0008972	Decreased activity of mitochondrial respiratory chain	400916	CHCHD10	OMIM:616209
HP:0008972	Decreased activity of mitochondrial respiratory chain	85476	GFM1	OMIM:609060
HP:0008972	Decreased activity of mitochondrial respiratory chain	25821	MTO1	OMIM:614702
HP:0008972	Decreased activity of mitochondrial respiratory chain	708	C1QBP	OMIM:617713
HP:0008972	Decreased activity of mitochondrial respiratory chain	90624	LYRM7	OMIM:615838
HP:0008972	Decreased activity of mitochondrial respiratory chain	124454	EARS2	OMIM:614924
HP:0008972	Decreased activity of mitochondrial respiratory chain	54675	CRLS1	OMIM:620167
HP:0008972	Decreased activity of mitochondrial respiratory chain	55750	AGK	OMIM:212350
HP:0008972	Decreased activity of mitochondrial respiratory chain	10102	TSFM	OMIM:610505
HP:0008972	Decreased activity of mitochondrial respiratory chain	23479	ISCU	OMIM:255125
HP:0008972	Decreased activity of mitochondrial respiratory chain	1716	DGUOK	OMIM:251880
HP:0008972	Decreased activity of mitochondrial respiratory chain	56945	MRPS22	OMIM:611719
HP:0008972	Decreased activity of mitochondrial respiratory chain	8802	SUCLG1	OMIM:245400
HP:0008972	Decreased activity of mitochondrial respiratory chain	8802	SUCLG1	ORPHA:17
HP:0008972	Decreased activity of mitochondrial respiratory chain	29928	TIMM22	OMIM:618851
HP:0008972	Decreased activity of mitochondrial respiratory chain	63931	MRPS14	OMIM:618378
HP:0008972	Decreased activity of mitochondrial respiratory chain	79587	CARS2	ORPHA:477774
HP:0008972	Decreased activity of mitochondrial respiratory chain	79587	CARS2	OMIM:616672
HP:0008972	Decreased activity of mitochondrial respiratory chain	291	SLC25A4	OMIM:617184
HP:0008972	Decreased activity of mitochondrial respiratory chain	25828	TXN2	ORPHA:478029
HP:0008972	Decreased activity of mitochondrial respiratory chain	25828	TXN2	OMIM:616811
HP:0008972	Decreased activity of mitochondrial respiratory chain	51067	YARS2	OMIM:613561
HP:0008972	Decreased activity of mitochondrial respiratory chain	9054	NFS1	OMIM:619386
HP:0008972	Decreased activity of mitochondrial respiratory chain	790955	UQCC3	OMIM:616111
HP:0008972	Decreased activity of mitochondrial respiratory chain	125170	MIEF2	OMIM:619024
HP:0008972	Decreased activity of mitochondrial respiratory chain	84340	GFM2	OMIM:618397
HP:0008972	Decreased activity of mitochondrial respiratory chain	55278	QRSL1	OMIM:618835
HP:0008972	Decreased activity of mitochondrial respiratory chain	388962	BOLA3	OMIM:614299
HP:0008972	Decreased activity of mitochondrial respiratory chain	57570	TRMT5	OMIM:616539
HP:0008972	Decreased activity of mitochondrial respiratory chain	84300	UQCC2	OMIM:615824
HP:0008972	Decreased activity of mitochondrial respiratory chain	51021	MRPS16	OMIM:610498
HP:0008972	Decreased activity of mitochondrial respiratory chain	57038	RARS2	OMIM:611523
HP:0008972	Decreased activity of mitochondrial respiratory chain	7388	UQCRH	OMIM:620137
HP:0008972	Decreased activity of mitochondrial respiratory chain	283459	GATC	OMIM:618839
HP:0008972	Decreased activity of mitochondrial respiratory chain	617	BCS1L	OMIM:124000
HP:0008972	Decreased activity of mitochondrial respiratory chain	54968	TMEM70	OMIM:614052
HP:0008972	Decreased activity of mitochondrial respiratory chain	92609	TIMM50	ORPHA:505216
HP:0008972	Decreased activity of mitochondrial respiratory chain	91574	MTRFR	OMIM:613559
HP:0008972	Decreased activity of mitochondrial respiratory chain	513	ATP5F1D	OMIM:618120
HP:0008972	Decreased activity of mitochondrial respiratory chain	514	ATP5F1E	OMIM:614053
HP:0008972	Decreased activity of mitochondrial respiratory chain	91647	ATPAF2	OMIM:604273
HP:0008978	Necrotizing myopathy	7415	VCP	ORPHA:329478
HP:0008978	Necrotizing myopathy	7273	TTN	ORPHA:178464
HP:0008978	Necrotizing myopathy	779	CACNA1S	ORPHA:423
HP:0008978	Necrotizing myopathy	6261	RYR1	ORPHA:423
HP:0008985	Increased intramuscular fat	400916	CHCHD10	ORPHA:276435
HP:0008985	Increased intramuscular fat	4000	LMNA	OMIM:151660
HP:0008986	Agenesis of the diaphragm	219844	HYLS1	OMIM:236680
HP:0008988	Pelvic girdle muscle atrophy	22954	TRIM32	OMIM:254110
HP:0008988	Pelvic girdle muscle atrophy	7415	VCP	OMIM:167320
HP:0008988	Pelvic girdle muscle atrophy	6443	SGCB	OMIM:604286
HP:0008988	Pelvic girdle muscle atrophy	4000	LMNA	ORPHA:98856
HP:0008988	Pelvic girdle muscle atrophy	203859	ANO5	ORPHA:206549
HP:0008991	Exercise-induced leg cramps	3094	HINT1	ORPHA:324442
HP:0008993	Increased intraabdominal fat	3991	LIPE	ORPHA:435660
HP:0008993	Increased intraabdominal fat	4000	LMNA	ORPHA:280365
HP:0008993	Increased intraabdominal fat	4000	LMNA	OMIM:151660
HP:0008993	Increased intraabdominal fat	208	AKT2	ORPHA:79085
HP:0008997	Proximal muscle weakness in upper limbs	54332	GDAP1	OMIM:607706
HP:0008997	Proximal muscle weakness in upper limbs	54332	GDAP1	ORPHA:101097
HP:0008997	Proximal muscle weakness in upper limbs	339855	KY	ORPHA:496689
HP:0008997	Proximal muscle weakness in upper limbs	203859	ANO5	ORPHA:399096
HP:0008997	Proximal muscle weakness in upper limbs	203859	ANO5	ORPHA:206549
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	ORPHA:435387
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	OMIM:616687
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	OMIM:613954
HP:0008997	Proximal muscle weakness in upper limbs	59341	TRPV4	OMIM:606071
HP:0008997	Proximal muscle weakness in upper limbs	3991	LIPE	ORPHA:435660
HP:0008997	Proximal muscle weakness in upper limbs	400916	CHCHD10	ORPHA:457050
HP:0008997	Proximal muscle weakness in upper limbs	400916	CHCHD10	ORPHA:276435
HP:0008997	Proximal muscle weakness in upper limbs	64856	VWA1	OMIM:619216
HP:0008997	Proximal muscle weakness in upper limbs	311	ANXA11	OMIM:619733
HP:0008997	Proximal muscle weakness in upper limbs	80208	SPG11	OMIM:616668
HP:0008997	Proximal muscle weakness in upper limbs	81846	SBF2	ORPHA:99956
HP:0008997	Proximal muscle weakness in upper limbs	9990	SLC12A6	OMIM:620068
HP:0008997	Proximal muscle weakness in upper limbs	274	BIN1	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	64419	MTMR14	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	64419	MTMR14	OMIM:160150
HP:0008997	Proximal muscle weakness in upper limbs	4618	MYF6	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	1785	DNM2	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	1785	DNM2	OMIM:160150
HP:0008997	Proximal muscle weakness in upper limbs	6261	RYR1	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	2273	FHL1	ORPHA:98863
HP:0008997	Proximal muscle weakness in upper limbs	2010	EMD	ORPHA:98863
HP:0008997	Proximal muscle weakness in upper limbs	23676	SMPX	OMIM:301075
HP:0008997	Proximal muscle weakness in upper limbs	29925	GMPPB	ORPHA:363623
HP:0008997	Proximal muscle weakness in upper limbs	8557	TCAP	OMIM:601954
HP:0008997	Proximal muscle weakness in upper limbs	3714	JAG2	OMIM:619566
HP:0008997	Proximal muscle weakness in upper limbs	22880	MORC2	ORPHA:466768
HP:0008997	Proximal muscle weakness in upper limbs	3908	LAMA2	OMIM:618138
HP:0008997	Proximal muscle weakness in upper limbs	1371	CPOX	ORPHA:79273
HP:0008997	Proximal muscle weakness in upper limbs	23175	LPIN1	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	4512	MT-CO1	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	4514	MT-CO3	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	4000	LMNA	ORPHA:98855
HP:0008997	Proximal muscle weakness in upper limbs	4000	LMNA	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	5498	PPOX	ORPHA:79473
HP:0008997	Proximal muscle weakness in upper limbs	3145	HMBS	ORPHA:79276
HP:0008997	Proximal muscle weakness in upper limbs	4747	NEFL	ORPHA:101085
HP:0008997	Proximal muscle weakness in upper limbs	11155	LDB3	ORPHA:98912
HP:0008997	Proximal muscle weakness in upper limbs	729920	CRPPA	ORPHA:352479
HP:0008997	Proximal muscle weakness in upper limbs	10755	GIPC1	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	79188	TMEM43	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	23345	SYNE1	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	23224	SYNE2	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	81545	FBXO38	OMIM:615575
HP:0008997	Proximal muscle weakness in upper limbs	8291	DYSF	ORPHA:45448
HP:0008997	Proximal muscle weakness in upper limbs	122622	ADSS1	ORPHA:482601
HP:0008997	Proximal muscle weakness in upper limbs	9927	MFN2	ORPHA:99947
HP:0008997	Proximal muscle weakness in upper limbs	10585	POMT1	ORPHA:86812
HP:0008997	Proximal muscle weakness in upper limbs	6329	SCN4A	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1134	CHRNA1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	4038	LRP4	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1305	COL13A1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1140	CHRNB1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1144	CHRND	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1145	CHRNE	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	4593	MUSK	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	5913	RAPSN	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	375790	AGRN	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	221264	AK9	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	285489	DOK7	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	4625	MYH7	ORPHA:437572
HP:0008997	Proximal muscle weakness in upper limbs	182	JAG1	OMIM:619574
HP:0008998	Pectoralis hypoplasia	57167	SALL4	OMIM:607323
HP:0008998	Pectoralis hypoplasia	389827	MYMK	OMIM:254940
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:672
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:36
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:380
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:146510
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:175700
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:174200
HP:0004207	Abnormal 5th finger morphology	6309	SC5D	ORPHA:46059
HP:0004207	Abnormal 5th finger morphology	6309	SC5D	OMIM:607330
HP:0004207	Abnormal 5th finger morphology	894	CCND2	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	894	CCND2	OMIM:615938
HP:0004207	Abnormal 5th finger morphology	5296	PIK3R2	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	10000	AKT3	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	10000	AKT3	OMIM:615937
HP:0004207	Abnormal 5th finger morphology	4750	NEK1	OMIM:263520
HP:0004207	Abnormal 5th finger morphology	4750	NEK1	ORPHA:2751
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	OMIM:615630
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	OMIM:619471
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	54585	LZTFL1	OMIM:615994
HP:0004207	Abnormal 5th finger morphology	54585	LZTFL1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	8195	MKKS	OMIM:236700
HP:0004207	Abnormal 5th finger morphology	8195	MKKS	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	8195	MKKS	ORPHA:2473
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	OMIM:608091
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	OMIM:603194
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	56623	INPP5E	OMIM:213300
HP:0004207	Abnormal 5th finger morphology	56623	INPP5E	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	55593	OTUD5	OMIM:301056
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	OMIM:216360
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	OMIM:607361
HP:0004207	Abnormal 5th finger morphology	55112	DYNC2I1	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	55112	DYNC2I1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	OMIM:611263
HP:0004207	Abnormal 5th finger morphology	79659	DYNC2H1	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	79659	DYNC2H1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	89891	DYNC2I2	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	89891	DYNC2I2	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	OMIM:611561
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	OMIM:611560
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	83479	DDX59	OMIM:174300
HP:0004207	Abnormal 5th finger morphology	83479	DDX59	ORPHA:2919
HP:0004207	Abnormal 5th finger morphology	1717	DHCR7	ORPHA:818
HP:0004207	Abnormal 5th finger morphology	1717	DHCR7	OMIM:270400
HP:0004207	Abnormal 5th finger morphology	6926	TBX3	ORPHA:3138
HP:0004207	Abnormal 5th finger morphology	6926	TBX3	OMIM:181450
HP:0004207	Abnormal 5th finger morphology	7476	WNT7A	OMIM:228930
HP:0004207	Abnormal 5th finger morphology	84100	ARL6	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	84100	ARL6	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	79140	CCDC28B	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	582	BBS1	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	582	BBS1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	51057	WDPCP	OMIM:217085
HP:0004207	Abnormal 5th finger morphology	51057	WDPCP	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	84314	TMEM107	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	84314	TMEM107	OMIM:617563
HP:0004207	Abnormal 5th finger morphology	26123	TCTN3	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	26123	TCTN3	ORPHA:2753
HP:0004207	Abnormal 5th finger morphology	79867	TCTN2	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79867	TCTN2	OMIM:616654
HP:0004207	Abnormal 5th finger morphology	80776	B9D2	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80776	B9D2	OMIM:614175
HP:0004207	Abnormal 5th finger morphology	79600	TCTN1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	57096	RPGRIP1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79848	CSPP1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80184	CEP290	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80184	CEP290	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	80184	CEP290	OMIM:611134
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	OMIM:612284
HP:0004207	Abnormal 5th finger morphology	79583	TMEM231	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79583	TMEM231	ORPHA:2752
HP:0004207	Abnormal 5th finger morphology	79770	TXNDC15	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79770	TXNDC15	OMIM:619879
HP:0004207	Abnormal 5th finger morphology	27077	B9D1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	54903	MKS1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	54903	MKS1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	54903	MKS1	OMIM:249000
HP:0004207	Abnormal 5th finger morphology	65062	TMEM237	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	285600	KIAA0825	OMIM:618498
HP:0004207	Abnormal 5th finger morphology	5147	PDE6D	OMIM:615665
HP:0004207	Abnormal 5th finger morphology	26005	C2CD3	OMIM:615948
HP:0004207	Abnormal 5th finger morphology	26005	C2CD3	ORPHA:434179
HP:0004207	Abnormal 5th finger morphology	26040	SETBP1	OMIM:269150
HP:0004207	Abnormal 5th finger morphology	153241	CEP120	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	51626	DYNC2LI1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	51626	DYNC2LI1	OMIM:617088
HP:0004207	Abnormal 5th finger morphology	79809	TTC21B	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	64840	PORCN	OMIM:305600
HP:0004207	Abnormal 5th finger morphology	92482	BBIP1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	11020	IFT27	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	49855	SCAPER	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	4867	NPHP1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	27241	BBS9	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	27241	BBS9	OMIM:615986
HP:0004207	Abnormal 5th finger morphology	84984	CEP19	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	22954	TRIM32	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	79738	BBS10	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	123016	TTC8	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	583	BBS2	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	583	BBS2	OMIM:615981
HP:0004207	Abnormal 5th finger morphology	585	BBS4	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	55212	BBS7	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	166379	BBS12	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	166379	BBS12	OMIM:615989
HP:0004207	Abnormal 5th finger morphology	10806	SDCCAG8	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	157657	CFAP418	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	157657	CFAP418	OMIM:617406
HP:0004207	Abnormal 5th finger morphology	129880	BBS5	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	80173	IFT74	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	65250	CPLANE1	OMIM:277170
HP:0004207	Abnormal 5th finger morphology	79005	SCNM1	OMIM:620107
HP:0004207	Abnormal 5th finger morphology	6608	SMO	OMIM:241800
HP:0004207	Abnormal 5th finger morphology	54499	TMCO1	OMIM:213980
HP:0004207	Abnormal 5th finger morphology	2736	GLI2	OMIM:610829
HP:0004207	Abnormal 5th finger morphology	51360	MBTPS2	OMIM:308205
HP:0004207	Abnormal 5th finger morphology	51360	MBTPS2	ORPHA:85284
HP:0004207	Abnormal 5th finger morphology	64327	LMBR1	OMIM:174500
HP:0004207	Abnormal 5th finger morphology	80210	ARMC9	OMIM:617622
HP:0004207	Abnormal 5th finger morphology	9373	PLAA	ORPHA:521426
HP:0004207	Abnormal 5th finger morphology	2316	FLNA	OMIM:304120
HP:0004207	Abnormal 5th finger morphology	3930	LBR	OMIM:215140
HP:0004207	Abnormal 5th finger morphology	51684	SUFU	OMIM:617757
HP:0004207	Abnormal 5th finger morphology	219844	HYLS1	OMIM:236680
HP:0004207	Abnormal 5th finger morphology	219844	HYLS1	ORPHA:2189
HP:0004207	Abnormal 5th finger morphology	257	ALX3	OMIM:136760
HP:0004207	Abnormal 5th finger morphology	23288	IQCE	OMIM:617642
HP:0004207	Abnormal 5th finger morphology	137392	CIBAR1	OMIM:618219
HP:0004207	Abnormal 5th finger morphology	7700	ZNF141	OMIM:615226
HP:0004207	Abnormal 5th finger morphology	9851	KIAA0753	OMIM:617127
HP:0004207	Abnormal 5th finger morphology	7046	TGFBR1	OMIM:609192
HP:0004207	Abnormal 5th finger morphology	255758	DYNLT2B	OMIM:617405
HP:0004207	Abnormal 5th finger morphology	11253	MAN1B1	ORPHA:397941
HP:0004207	Abnormal 5th finger morphology	11253	MAN1B1	OMIM:614202
HP:0004207	Abnormal 5th finger morphology	340533	NEXMIF	OMIM:300912
HP:0004207	Abnormal 5th finger morphology	1139	CHRNA7	ORPHA:199318
HP:0004207	Abnormal 5th finger morphology	1139	CHRNA7	OMIM:612001
HP:0004207	Abnormal 5th finger morphology	2132	EXT2	OMIM:616682
HP:0004207	Abnormal 5th finger morphology	23135	KDM6B	OMIM:618505
HP:0004207	Abnormal 5th finger morphology	6659	SOX4	OMIM:618506
HP:0004207	Abnormal 5th finger morphology	1947	EFNB1	ORPHA:1520
HP:0004207	Abnormal 5th finger morphology	1947	EFNB1	OMIM:304110
HP:0004207	Abnormal 5th finger morphology	4010	LMX1B	ORPHA:2614
HP:0004207	Abnormal 5th finger morphology	4010	LMX1B	OMIM:161200
HP:0004207	Abnormal 5th finger morphology	10054	UBA2	OMIM:619959
HP:0004207	Abnormal 5th finger morphology	51126	NAA20	OMIM:619717
HP:0004207	Abnormal 5th finger morphology	2972	BRF1	OMIM:616202
HP:0004207	Abnormal 5th finger morphology	2263	FGFR2	OMIM:149730
HP:0004207	Abnormal 5th finger morphology	2263	FGFR2	OMIM:101400
HP:0004207	Abnormal 5th finger morphology	2263	FGFR2	ORPHA:794
HP:0004207	Abnormal 5th finger morphology	9820	CUL7	ORPHA:2616
HP:0004207	Abnormal 5th finger morphology	9820	CUL7	OMIM:273750
HP:0004207	Abnormal 5th finger morphology	23363	OBSL1	ORPHA:2616
HP:0004207	Abnormal 5th finger morphology	83987	CCDC8	ORPHA:2616
HP:0004207	Abnormal 5th finger morphology	83987	CCDC8	OMIM:614205
HP:0004207	Abnormal 5th finger morphology	7021	TFAP2B	OMIM:169100
HP:0004207	Abnormal 5th finger morphology	7021	TFAP2B	ORPHA:46627
HP:0004207	Abnormal 5th finger morphology	7021	TFAP2B	OMIM:617035
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	ORPHA:231140
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	ORPHA:231144
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	OMIM:616489
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	OMIM:180860
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	283120	H19	ORPHA:231140
HP:0004207	Abnormal 5th finger morphology	283120	H19	ORPHA:231144
HP:0004207	Abnormal 5th finger morphology	197131	UBR1	OMIM:243800
HP:0004207	Abnormal 5th finger morphology	5932	RBBP8	OMIM:606744
HP:0004207	Abnormal 5th finger morphology	5932	RBBP8	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	3021	H3-3B	OMIM:619721
HP:0004207	Abnormal 5th finger morphology	126792	B3GALT6	ORPHA:2725
HP:0004207	Abnormal 5th finger morphology	4286	MITF	OMIM:617306
HP:0004207	Abnormal 5th finger morphology	23384	SPECC1L	ORPHA:1519
HP:0004207	Abnormal 5th finger morphology	57539	WDR35	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	112752	IFT43	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	51098	IFT52	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	55764	IFT122	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	57728	WDR19	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	55636	CHD7	ORPHA:138
HP:0004207	Abnormal 5th finger morphology	9723	SEMA3E	ORPHA:138
HP:0004207	Abnormal 5th finger morphology	90	ACVR1	OMIM:135100
HP:0004207	Abnormal 5th finger morphology	90	ACVR1	ORPHA:337
HP:0004207	Abnormal 5th finger morphology	3190	HNRNPK	OMIM:616580
HP:0004207	Abnormal 5th finger morphology	54880	BCOR	ORPHA:2712
HP:0004207	Abnormal 5th finger morphology	54880	BCOR	ORPHA:568
HP:0004207	Abnormal 5th finger morphology	10606	PAICS	OMIM:619859
HP:0004207	Abnormal 5th finger morphology	1009	CDH11	OMIM:619736
HP:0004207	Abnormal 5th finger morphology	64359	NXN	ORPHA:1507
HP:0004207	Abnormal 5th finger morphology	7020	TFAP2A	OMIM:113620
HP:0004207	Abnormal 5th finger morphology	652	BMP4	OMIM:607932
HP:0004207	Abnormal 5th finger morphology	4297	KMT2A	ORPHA:319182
HP:0004207	Abnormal 5th finger morphology	4297	KMT2A	OMIM:605130
HP:0004207	Abnormal 5th finger morphology	1301	COL11A1	OMIM:228520
HP:0004207	Abnormal 5th finger morphology	1301	COL11A1	OMIM:154780
HP:0004207	Abnormal 5th finger morphology	23327	NEDD4L	OMIM:617201
HP:0004207	Abnormal 5th finger morphology	7291	TWIST1	OMIM:101400
HP:0004207	Abnormal 5th finger morphology	7291	TWIST1	ORPHA:794
HP:0004207	Abnormal 5th finger morphology	2783	GNB2	OMIM:619503
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	ORPHA:235
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	ORPHA:99812
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	OMIM:606593
HP:0004207	Abnormal 5th finger morphology	54888	NSUN2	ORPHA:235
HP:0004207	Abnormal 5th finger morphology	1182	CLCN3	OMIM:619512
HP:0004207	Abnormal 5th finger morphology	85301	COL27A1	OMIM:615155
HP:0004207	Abnormal 5th finger morphology	5048	PAFAH1B1	ORPHA:217385
HP:0004207	Abnormal 5th finger morphology	5048	PAFAH1B1	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	7531	YWHAE	ORPHA:217385
HP:0004207	Abnormal 5th finger morphology	7531	YWHAE	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	2121	EVC	OMIM:193530
HP:0004207	Abnormal 5th finger morphology	2121	EVC	ORPHA:952
HP:0004207	Abnormal 5th finger morphology	132884	EVC2	OMIM:193530
HP:0004207	Abnormal 5th finger morphology	132884	EVC2	ORPHA:952
HP:0004207	Abnormal 5th finger morphology	8364	H4C3	OMIM:619758
HP:0004207	Abnormal 5th finger morphology	5590	PRKCZ	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	2563	GABRD	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	23013	SPEN	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	8510	MMP23B	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	7798	LUZP1	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	6497	SKI	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	10630	PDPN	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	3339	HSPG2	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	10277	UBE4B	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	8514	KCNAB2	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	473	RERE	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	473	RERE	OMIM:616975
HP:0004207	Abnormal 5th finger morphology	63976	PRDM16	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	54897	CASZ1	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	6134	RPL10	ORPHA:459070
HP:0004207	Abnormal 5th finger morphology	6134	RPL10	OMIM:300998
HP:0004207	Abnormal 5th finger morphology	7750	ZMYM2	OMIM:619522
HP:0004207	Abnormal 5th finger morphology	4849	CNOT3	OMIM:618672
HP:0004207	Abnormal 5th finger morphology	6942	TCF20	OMIM:618430
HP:0004207	Abnormal 5th finger morphology	641	BLM	OMIM:210900
HP:0004207	Abnormal 5th finger morphology	57492	ARID1B	ORPHA:251056
HP:0004207	Abnormal 5th finger morphology	57492	ARID1B	OMIM:135900
HP:0004207	Abnormal 5th finger morphology	63895	PIEZO2	ORPHA:376
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:576283
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:251028
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:251019
HP:0004207	Abnormal 5th finger morphology	2239	GPC4	ORPHA:373
HP:0004207	Abnormal 5th finger morphology	2239	GPC4	ORPHA:2662
HP:0004207	Abnormal 5th finger morphology	2719	GPC3	ORPHA:373
HP:0004207	Abnormal 5th finger morphology	23162	MAPK8IP3	OMIM:618443
HP:0004207	Abnormal 5th finger morphology	23483	TGDS	OMIM:616145
HP:0004207	Abnormal 5th finger morphology	23483	TGDS	ORPHA:1388
HP:0004207	Abnormal 5th finger morphology	57479	PRR12	OMIM:619539
HP:0004207	Abnormal 5th finger morphology	25836	NIPBL	OMIM:122470
HP:0004207	Abnormal 5th finger morphology	25836	NIPBL	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	2317	FLNB	OMIM:272460
HP:0004207	Abnormal 5th finger morphology	79087	ALG12	ORPHA:79324
HP:0004207	Abnormal 5th finger morphology	6473	SHOX	ORPHA:240
HP:0004207	Abnormal 5th finger morphology	1387	CREBBP	OMIM:618332
HP:0004207	Abnormal 5th finger morphology	1387	CREBBP	OMIM:180849
HP:0004207	Abnormal 5th finger morphology	26100	WIPI2	OMIM:618453
HP:0004207	Abnormal 5th finger morphology	10533	ATG7	OMIM:619422
HP:0004207	Abnormal 5th finger morphology	8295	TRRAP	OMIM:618454
HP:0004207	Abnormal 5th finger morphology	9742	IFT140	OMIM:266920
HP:0004207	Abnormal 5th finger morphology	7227	TRPS1	ORPHA:77258
HP:0004207	Abnormal 5th finger morphology	2261	FGFR3	ORPHA:794
HP:0004207	Abnormal 5th finger morphology	9949	AMMECR1	OMIM:300990
HP:0004207	Abnormal 5th finger morphology	3479	IGF1	ORPHA:73272
HP:0004207	Abnormal 5th finger morphology	3479	IGF1	OMIM:608747
HP:0004207	Abnormal 5th finger morphology	22827	PUF60	ORPHA:508498
HP:0004207	Abnormal 5th finger morphology	22827	PUF60	ORPHA:508488
HP:0004207	Abnormal 5th finger morphology	6477	SIAH1	OMIM:619314
HP:0004207	Abnormal 5th finger morphology	8473	OGT	OMIM:300997
HP:0004207	Abnormal 5th finger morphology	10785	WDR4	OMIM:618347
HP:0004207	Abnormal 5th finger morphology	1798	DPAGT1	OMIM:608093
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	OMIM:226960
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	OMIM:616651
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0004207	Abnormal 5th finger morphology	55869	HDAC8	OMIM:300882
HP:0004207	Abnormal 5th finger morphology	55869	HDAC8	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	117581	TWIST2	OMIM:200110
HP:0004207	Abnormal 5th finger morphology	117581	TWIST2	OMIM:209885
HP:0004207	Abnormal 5th finger morphology	23030	KDM4B	OMIM:619320
HP:0004207	Abnormal 5th finger morphology	9126	SMC3	OMIM:610759
HP:0004207	Abnormal 5th finger morphology	9126	SMC3	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	1725	DHPS	OMIM:618480
HP:0004207	Abnormal 5th finger morphology	55777	MBD5	OMIM:156200
HP:0004207	Abnormal 5th finger morphology	55777	MBD5	ORPHA:228402
HP:0004207	Abnormal 5th finger morphology	5980	REV3L	ORPHA:570
HP:0004207	Abnormal 5th finger morphology	23129	PLXND1	ORPHA:570
HP:0004207	Abnormal 5th finger morphology	4784	NFIX	OMIM:602535
HP:0004207	Abnormal 5th finger morphology	4998	ORC1	OMIM:224690
HP:0004207	Abnormal 5th finger morphology	4998	ORC1	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	4052	LTBP1	OMIM:619451
HP:0004207	Abnormal 5th finger morphology	8260	NAA10	OMIM:300855
HP:0004207	Abnormal 5th finger morphology	8260	NAA10	ORPHA:568
HP:0004207	Abnormal 5th finger morphology	7468	NSD2	OMIM:619695
HP:0004207	Abnormal 5th finger morphology	9496	TBX4	ORPHA:261279
HP:0004207	Abnormal 5th finger morphology	8091	HMGA2	ORPHA:94063
HP:0004207	Abnormal 5th finger morphology	8091	HMGA2	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	23592	LEMD3	ORPHA:94063
HP:0004207	Abnormal 5th finger morphology	164	AP1G1	OMIM:619467
HP:0004207	Abnormal 5th finger morphology	5283	PIGH	OMIM:618010
HP:0004207	Abnormal 5th finger morphology	50801	KCNK4	OMIM:618381
HP:0004207	Abnormal 5th finger morphology	4613	MYCN	ORPHA:391641
HP:0004207	Abnormal 5th finger morphology	57003	CCDC47	OMIM:618268
HP:0004207	Abnormal 5th finger morphology	8812	CCNK	OMIM:618147
HP:0004207	Abnormal 5th finger morphology	5977	DPF2	OMIM:618027
HP:0004207	Abnormal 5th finger morphology	29895	MYL11	OMIM:619110
HP:0004207	Abnormal 5th finger morphology	94005	PIGS	OMIM:618143
HP:0004207	Abnormal 5th finger morphology	145173	B3GLCT	OMIM:261540
HP:0004207	Abnormal 5th finger morphology	145173	B3GLCT	ORPHA:709
HP:0004207	Abnormal 5th finger morphology	2033	EP300	OMIM:180849
HP:0004207	Abnormal 5th finger morphology	92002	CCNQ	OMIM:300707
HP:0004207	Abnormal 5th finger morphology	92002	CCNQ	ORPHA:140952
HP:0004207	Abnormal 5th finger morphology	285590	SH3PXD2B	ORPHA:137834
HP:0004207	Abnormal 5th finger morphology	80036	TRPM3	OMIM:620224
HP:0004207	Abnormal 5th finger morphology	526	ATP6V1B2	ORPHA:79500
HP:0004207	Abnormal 5th finger morphology	57465	TBC1D24	ORPHA:79500
HP:0004207	Abnormal 5th finger morphology	57465	TBC1D24	OMIM:220500
HP:0004207	Abnormal 5th finger morphology	5728	PTEN	ORPHA:744
HP:0004207	Abnormal 5th finger morphology	207	AKT1	ORPHA:744
HP:0004207	Abnormal 5th finger morphology	2887	GRB10	ORPHA:96182
HP:0004207	Abnormal 5th finger morphology	1457	CSNK2A1	OMIM:617062
HP:0004207	Abnormal 5th finger morphology	7204	TRIO	OMIM:617061
HP:0004207	Abnormal 5th finger morphology	7204	TRIO	ORPHA:476126
HP:0004207	Abnormal 5th finger morphology	51715	RAB23	OMIM:201000
HP:0004207	Abnormal 5th finger morphology	28952	CCDC22	OMIM:300963
HP:0004207	Abnormal 5th finger morphology	90416	CCDC32	OMIM:619123
HP:0004207	Abnormal 5th finger morphology	8450	CUL4B	ORPHA:85293
HP:0004207	Abnormal 5th finger morphology	55717	WDR11	OMIM:620237
HP:0004207	Abnormal 5th finger morphology	6299	SALL1	ORPHA:857
HP:0004207	Abnormal 5th finger morphology	51339	DACT1	ORPHA:857
HP:0004207	Abnormal 5th finger morphology	118924	FRA10AC1	OMIM:620113
HP:0004207	Abnormal 5th finger morphology	22995	CEP152	OMIM:613823
HP:0004207	Abnormal 5th finger morphology	22995	CEP152	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	3549	IHH	OMIM:112500
HP:0004207	Abnormal 5th finger morphology	3549	IHH	ORPHA:93388
HP:0004207	Abnormal 5th finger morphology	3090	HIC1	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	10436	EMG1	OMIM:211180
HP:0004207	Abnormal 5th finger morphology	10436	EMG1	ORPHA:1270
HP:0004207	Abnormal 5th finger morphology	23387	SIK3	OMIM:618162
HP:0004207	Abnormal 5th finger morphology	10084	PQBP1	OMIM:309500
HP:0004207	Abnormal 5th finger morphology	5745	PTH1R	OMIM:156400
HP:0004207	Abnormal 5th finger morphology	89970	RSPRY1	ORPHA:457395
HP:0004207	Abnormal 5th finger morphology	22800	RRAS2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	867	CBL	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	8216	LZTR1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6016	RIT1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6237	RRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5894	RAF1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	22808	MRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	3845	KRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	200734	SPRED2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	4893	NRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6654	SOS1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6655	SOS2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5781	PTPN11	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5922	RASA2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	23522	KAT6B	ORPHA:3047
HP:0004207	Abnormal 5th finger morphology	6913	TBX15	OMIM:260660
HP:0004207	Abnormal 5th finger morphology	79023	NUP37	OMIM:618179
HP:0004207	Abnormal 5th finger morphology	375056	MIA3	OMIM:619269
HP:0004207	Abnormal 5th finger morphology	27161	AGO2	OMIM:619149
HP:0004207	Abnormal 5th finger morphology	5567	PRKACB	OMIM:619143
HP:0004207	Abnormal 5th finger morphology	221927	BRAT1	OMIM:618056
HP:0004207	Abnormal 5th finger morphology	8823	FGF16	OMIM:309630
HP:0004207	Abnormal 5th finger morphology	161742	SPRED1	ORPHA:137605
HP:0004207	Abnormal 5th finger morphology	7337	UBE3A	ORPHA:238446
HP:0004207	Abnormal 5th finger morphology	1832	DSP	ORPHA:158687
HP:0004207	Abnormal 5th finger morphology	1832	DSP	OMIM:609638
HP:0004207	Abnormal 5th finger morphology	3728	JUP	ORPHA:158687
HP:0004207	Abnormal 5th finger morphology	23241	PACS2	OMIM:618067
HP:0004207	Abnormal 5th finger morphology	26128	KIFBP	OMIM:609460
HP:0004207	Abnormal 5th finger morphology	23556	PIGN	ORPHA:2059
HP:0004207	Abnormal 5th finger morphology	5885	RAD21	OMIM:614701
HP:0004207	Abnormal 5th finger morphology	5885	RAD21	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	673	BRAF	OMIM:115150
HP:0004207	Abnormal 5th finger morphology	7518	XRCC4	ORPHA:99812
HP:0004207	Abnormal 5th finger morphology	3209	HOXA13	OMIM:140000
HP:0004207	Abnormal 5th finger morphology	3209	HOXA13	ORPHA:2438
HP:0004207	Abnormal 5th finger morphology	8854	ALDH1A2	OMIM:620025
HP:0004207	Abnormal 5th finger morphology	10274	STAG1	ORPHA:502434
HP:0004207	Abnormal 5th finger morphology	374654	KIF7	OMIM:200990
HP:0004207	Abnormal 5th finger morphology	613	BCR	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	1399	CRKL	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	5594	MAPK1	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	89910	UBE3B	OMIM:244450
HP:0004207	Abnormal 5th finger morphology	2314	FLII	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	23096	IQSEC2	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	10743	RAI1	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	10522	DEAF1	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	150468	CKAP2L	ORPHA:3255
HP:0004207	Abnormal 5th finger morphology	6595	SMARCA2	OMIM:619293
HP:0004207	Abnormal 5th finger morphology	672	BRCA1	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	10459	MAD2L2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	7516	XRCC2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	29089	UBE2T	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	675	BRCA2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55120	FANCL	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2177	FANCD2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2175	FANCA	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2187	FANCB	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2176	FANCC	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2178	FANCE	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2188	FANCF	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2189	FANCG	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	5888	RAD51	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	5889	RAD51C	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55159	RFWD3	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	83990	BRIP1	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	57697	FANCM	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	79728	PALB2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	84464	SLX4	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2072	ERCC4	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55215	FANCI	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	546	ATRX	ORPHA:847
HP:0004207	Abnormal 5th finger morphology	84823	LMNB2	OMIM:619180
HP:0004207	Abnormal 5th finger morphology	9184	BUB3	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	699	BUB1	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	699	BUB1	OMIM:620183
HP:0004207	Abnormal 5th finger morphology	9702	CEP57	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	9702	CEP57	OMIM:614114
HP:0004207	Abnormal 5th finger morphology	9319	TRIP13	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	701	BUB1B	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	54476	RNF216	ORPHA:1173
HP:0004207	Abnormal 5th finger morphology	10908	PNPLA6	ORPHA:1173
HP:0004207	Abnormal 5th finger morphology	23036	ZNF292	OMIM:619188
HP:0004207	Abnormal 5th finger morphology	51199	NIN	OMIM:614851
HP:0004207	Abnormal 5th finger morphology	51199	NIN	ORPHA:319675
HP:0004207	Abnormal 5th finger morphology	1954	MEGF8	OMIM:614976
HP:0004207	Abnormal 5th finger morphology	25942	SIN3A	OMIM:613406
HP:0004207	Abnormal 5th finger morphology	4953	ODC1	OMIM:619075
HP:0004207	Abnormal 5th finger morphology	4953	ODC1	ORPHA:544488
HP:0004207	Abnormal 5th finger morphology	1857	DVL3	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	7474	WNT5A	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	1855	DVL1	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	2535	FZD2	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	2535	FZD2	OMIM:164745
HP:0004207	Abnormal 5th finger morphology	6804	STX1A	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	7461	CLIP2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	84277	DNAJC30	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	8468	FKBP6	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	5982	RFC2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2969	GTF2I	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	3984	LIMK1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	9569	GTF2IRD1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	155382	VPS37D	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	155368	METTL27	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	114049	BUD23	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	7458	EIF4H	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	84163	GTF2IRD2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	9275	BCL7B	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	26608	TBL2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	653361	NCF1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	135886	TMEM270	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	51085	MLXIPL	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	51085	MLXIPL	OMIM:194050
HP:0004207	Abnormal 5th finger morphology	9031	BAZ1B	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2006	ELN	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2006	ELN	OMIM:194050
HP:0004207	Abnormal 5th finger morphology	2122	MECOM	ORPHA:71289
HP:0004207	Abnormal 5th finger morphology	3207	HOXA11	ORPHA:71289
HP:0004207	Abnormal 5th finger morphology	3207	HOXA11	OMIM:605432
HP:0004207	Abnormal 5th finger morphology	81031	SLC2A10	ORPHA:3342
HP:0004207	Abnormal 5th finger morphology	55165	CEP55	OMIM:236500
HP:0004207	Abnormal 5th finger morphology	157570	ESCO2	ORPHA:3103
HP:0004207	Abnormal 5th finger morphology	84992	PIGY	OMIM:616809
HP:0004207	Abnormal 5th finger morphology	10236	HNRNPR	OMIM:620073
HP:0004207	Abnormal 5th finger morphology	4094	MAF	ORPHA:1272
HP:0004207	Abnormal 5th finger morphology	6628	SNRPB	ORPHA:1393
HP:0004207	Abnormal 5th finger morphology	6628	SNRPB	OMIM:117650
HP:0004207	Abnormal 5th finger morphology	1028	CDKN1C	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	5324	PLAG1	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	9555	MACROH2A1	ORPHA:1275
HP:0004207	Abnormal 5th finger morphology	5422	POLA1	ORPHA:163976
HP:0004207	Abnormal 5th finger morphology	5422	POLA1	OMIM:301030
HP:0004207	Abnormal 5th finger morphology	55906	ZC4H2	ORPHA:3454
HP:0004207	Abnormal 5th finger morphology	10430	TMEM147	OMIM:620075
HP:0004207	Abnormal 5th finger morphology	3187	HNRNPH1	OMIM:620083
HP:0004207	Abnormal 5th finger morphology	2626	GATA4	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	2626	GATA4	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	23414	ZFPM2	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	23414	ZFPM2	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	1482	NKX2-5	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	1482	NKX2-5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	182	JAG1	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	182	JAG1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	6899	TBX1	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	6899	TBX1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2627	GATA6	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	2627	GATA6	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	545	ATR	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	545	ATR	OMIM:210600
HP:0004207	Abnormal 5th finger morphology	1062	CENPE	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	OMIM:210720
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	ORPHA:2637
HP:0004207	Abnormal 5th finger morphology	79902	NUP85	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	84126	ATRIP	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	55835	CENPJ	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	10293	TRAIP	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	10733	PLK4	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	9939	RBM8A	ORPHA:3320
HP:0004207	Abnormal 5th finger morphology	9939	RBM8A	OMIM:274000
HP:0004207	Abnormal 5th finger morphology	55023	PHIP	ORPHA:589905
HP:0004207	Abnormal 5th finger morphology	55023	PHIP	OMIM:617991
HP:0004207	Abnormal 5th finger morphology	8626	TP63	ORPHA:69085
HP:0004207	Abnormal 5th finger morphology	29123	ANKRD11	OMIM:148050
HP:0004207	Abnormal 5th finger morphology	9775	EIF4A3	OMIM:268305
HP:0004207	Abnormal 5th finger morphology	2702	GJA5	OMIM:612474
HP:0004207	Abnormal 5th finger morphology	2702	GJA5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2703	GJA8	OMIM:612474
HP:0004207	Abnormal 5th finger morphology	3897	L1CAM	ORPHA:2466
HP:0004207	Abnormal 5th finger morphology	4208	MEF2C	OMIM:613443
HP:0004207	Abnormal 5th finger morphology	55690	PACS1	ORPHA:329224
HP:0004207	Abnormal 5th finger morphology	2245	FGD1	ORPHA:915
HP:0004207	Abnormal 5th finger morphology	9230	RAB11B	OMIM:617807
HP:0004207	Abnormal 5th finger morphology	22856	CHSY1	ORPHA:363417
HP:0004207	Abnormal 5th finger morphology	51621	KLF13	OMIM:612001
HP:0004207	Abnormal 5th finger morphology	5648	MASP1	OMIM:257920
HP:0004207	Abnormal 5th finger morphology	23394	ADNP	OMIM:615873
HP:0004207	Abnormal 5th finger morphology	9759	HDAC4	ORPHA:1001
HP:0004207	Abnormal 5th finger morphology	11133	KPTN	OMIM:615637
HP:0004207	Abnormal 5th finger morphology	11133	KPTN	ORPHA:397612
HP:0004207	Abnormal 5th finger morphology	85358	SHANK3	OMIM:606232
HP:0004207	Abnormal 5th finger morphology	85358	SHANK3	ORPHA:48652
HP:0004207	Abnormal 5th finger morphology	23028	KDM1A	OMIM:616728
HP:0004207	Abnormal 5th finger morphology	23028	KDM1A	ORPHA:477993
HP:0004207	Abnormal 5th finger morphology	137814	NKX2-6	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	3791	KDR	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2657	GDF1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	140628	GATA5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2324	FLT4	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	10370	CITED2	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2334	AFF2	ORPHA:100973
HP:0004207	Abnormal 5th finger morphology	10847	SRCAP	OMIM:136140
HP:0004207	Abnormal 5th finger morphology	10982	MAPRE2	OMIM:616734
HP:0004207	Abnormal 5th finger morphology	4131	MAP1B	OMIM:618918
HP:0004207	Abnormal 5th finger morphology	54808	DYM	OMIM:223800
HP:0004207	Abnormal 5th finger morphology	84679	SLC9A7	OMIM:301024
HP:0004207	Abnormal 5th finger morphology	10735	STAG2	OMIM:301022
HP:0004207	Abnormal 5th finger morphology	10265	IRX5	OMIM:611174
HP:0004207	Abnormal 5th finger morphology	5925	RB1	ORPHA:1587
HP:0004207	Abnormal 5th finger morphology	7874	USP7	OMIM:616863
HP:0004207	Abnormal 5th finger morphology	3759	KCNJ2	OMIM:170390
HP:0004207	Abnormal 5th finger morphology	81620	CDT1	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	5000	ORC4	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	23594	ORC6	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	8318	CDC45	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	990	CDC6	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	51053	GMNN	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	64093	SMOC1	ORPHA:1106
HP:0004207	Abnormal 5th finger morphology	25	ABL1	OMIM:617602
HP:0004207	Abnormal 5th finger morphology	83696	TRAPPC9	ORPHA:352530
HP:0004207	Abnormal 5th finger morphology	860	RUNX2	ORPHA:1452
HP:0004207	Abnormal 5th finger morphology	29980	DONSON	OMIM:617604
HP:0004207	Abnormal 5th finger morphology	6638	SNRPN	ORPHA:177907
HP:0004207	Abnormal 5th finger morphology	23476	BRD4	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	8243	SMC1A	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	157680	VPS13B	ORPHA:193
HP:0004207	Abnormal 5th finger morphology	22931	RAB18	OMIM:614222
HP:0004207	Abnormal 5th finger morphology	9894	TELO2	ORPHA:488642
HP:0004207	Abnormal 5th finger morphology	490	ATP2B1	OMIM:619910
HP:0004207	Abnormal 5th finger morphology	8405	SPOP	OMIM:618828
HP:0004207	Abnormal 5th finger morphology	8405	SPOP	OMIM:618829
HP:0004207	Abnormal 5th finger morphology	284252	KCTD1	OMIM:181270
HP:0004207	Abnormal 5th finger morphology	54870	QRICH1	OMIM:617982
HP:0004207	Abnormal 5th finger morphology	139285	AMER1	OMIM:300373
HP:0004207	Abnormal 5th finger morphology	4841	NONO	ORPHA:466791
HP:0004207	Abnormal 5th finger morphology	1663	DDX11	OMIM:613398
HP:0004207	Abnormal 5th finger morphology	51317	PHF21A	OMIM:618725
HP:0004207	Abnormal 5th finger morphology	2186	BPTF	OMIM:617755
HP:0004207	Abnormal 5th finger morphology	59341	TRPV4	ORPHA:2635
HP:0004207	Abnormal 5th finger morphology	10225	CD96	ORPHA:1308
HP:0004207	Abnormal 5th finger morphology	8481	OFD1	ORPHA:2750
HP:0004207	Abnormal 5th finger morphology	4848	CNOT2	OMIM:618608
HP:0004207	Abnormal 5th finger morphology	64131	XYLT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	124583	CANT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	55790	CSGALNACT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	4204	MECP2	OMIM:300260
HP:0004207	Abnormal 5th finger morphology	55553	SOX6	OMIM:618971
HP:0004207	Abnormal 5th finger morphology	84148	KAT8	OMIM:618974
HP:0004207	Abnormal 5th finger morphology	58499	ZNF462	OMIM:618619
HP:0004207	Abnormal 5th finger morphology	2623	GATA1	OMIM:190685
HP:0004207	Abnormal 5th finger morphology	1280	COL2A1	OMIM:271700
HP:0004207	Abnormal 5th finger morphology	4882	NPR2	OMIM:615923
HP:0004207	Abnormal 5th finger morphology	9241	NOG	OMIM:186500
HP:0004207	Abnormal 5th finger morphology	9241	NOG	OMIM:184460
HP:0004207	Abnormal 5th finger morphology	4920	ROR2	OMIM:268310
HP:0004207	Abnormal 5th finger morphology	727857	BHLHA9	OMIM:609432
HP:0004207	Abnormal 5th finger morphology	9469	CHST3	OMIM:143095
HP:0004207	Abnormal 5th finger morphology	5518	PPP2R1A	OMIM:616362
HP:0004207	Abnormal 5th finger morphology	658	BMPR1B	OMIM:112600
HP:0004207	Abnormal 5th finger morphology	8200	GDF5	OMIM:112600
HP:0004207	Abnormal 5th finger morphology	650	BMP2	OMIM:112600
HP:0004207	Abnormal 5th finger morphology	55315	SLC29A3	OMIM:602782
HP:0004207	Abnormal 5th finger morphology	5307	PITX1	OMIM:186550
HP:0004207	Abnormal 5th finger morphology	51114	ZDHHC9	OMIM:300799
HP:0004207	Abnormal 5th finger morphology	10664	CTCF	ORPHA:363611
HP:0004207	Abnormal 5th finger morphology	26053	AUTS2	ORPHA:352490
HP:0004207	Abnormal 5th finger morphology	219854	TMEM218	OMIM:619562
HP:0004207	Abnormal 5th finger morphology	23291	FBXW11	OMIM:618914
HP:0004207	Abnormal 5th finger morphology	79912	PYROXD1	OMIM:617258
HP:0004207	Abnormal 5th finger morphology	9757	KMT2B	OMIM:619934
HP:0004207	Abnormal 5th finger morphology	2697	GJA1	OMIM:164200
HP:0004207	Abnormal 5th finger morphology	3720	JARID2	OMIM:620098
HP:0004207	Abnormal 5th finger morphology	10765	KDM5B	OMIM:618109
HP:0004207	Abnormal 5th finger morphology	9487	PIGL	OMIM:280000
HP:0004207	Abnormal 5th finger morphology	3239	HOXD13	OMIM:186000
HP:0004207	Abnormal 5th finger morphology	3977	LIFR	OMIM:601559
HP:0004207	Abnormal 5th finger morphology	10093	ARPC4	OMIM:620141
HP:0004207	Abnormal 5th finger morphology	56992	KIF15	ORPHA:261323
HP:0004207	Abnormal 5th finger morphology	6597	SMARCA4	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6597	SMARCA4	OMIM:614609
HP:0004207	Abnormal 5th finger morphology	6598	SMARCB1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	8289	ARID1A	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6601	SMARCC2	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6602	SMARCD1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	196528	ARID2	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6605	SMARCE1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6664	SOX11	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	5879	RAC1	ORPHA:500159
HP:0004207	Abnormal 5th finger morphology	91461	PKDCC	OMIM:618821
HP:0004207	Abnormal 5th finger morphology	2778	GNAS	ORPHA:79445
HP:0004207	Abnormal 5th finger morphology	5286	PIK3C2A	ORPHA:557003
HP:0004207	Abnormal 5th finger morphology	1327	COX4I1	OMIM:619060
HP:0004207	Abnormal 5th finger morphology	4212	MEIS2	OMIM:600987
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	OMIM:300867
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	ORPHA:2322
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	OMIM:147920
HP:0004207	Abnormal 5th finger morphology	8085	KMT2D	ORPHA:2322
HP:0004207	Abnormal 5th finger morphology	8085	KMT2D	OMIM:147920
HP:0004213	Abnormal 5th finger phalanx morphology	4613	MYCN	ORPHA:391641
HP:0004213	Abnormal 5th finger phalanx morphology	7021	TFAP2B	ORPHA:46627
HP:0004213	Abnormal 5th finger phalanx morphology	3481	IGF2	OMIM:180860
HP:0004213	Abnormal 5th finger phalanx morphology	51199	NIN	ORPHA:319675
HP:0004213	Abnormal 5th finger phalanx morphology	51199	NIN	OMIM:614851
HP:0004213	Abnormal 5th finger phalanx morphology	7474	WNT5A	OMIM:180700
HP:0004213	Abnormal 5th finger phalanx morphology	1855	DVL1	OMIM:180700
HP:0004213	Abnormal 5th finger phalanx morphology	22827	PUF60	ORPHA:508488
HP:0004213	Abnormal 5th finger phalanx morphology	3239	HOXD13	OMIM:186000
HP:0004213	Abnormal 5th finger phalanx morphology	3239	HOXD13	ORPHA:93409
HP:0004213	Abnormal 5th finger phalanx morphology	10847	SRCAP	OMIM:136140
HP:0004213	Abnormal 5th finger phalanx morphology	860	RUNX2	OMIM:119600
HP:0004213	Abnormal 5th finger phalanx morphology	860	RUNX2	OMIM:156510
HP:0004213	Abnormal 5th finger phalanx morphology	2623	GATA1	OMIM:190685
HP:0004213	Abnormal 5th finger phalanx morphology	2783	GNB2	OMIM:619503
HP:0004213	Abnormal 5th finger phalanx morphology	5932	RBBP8	OMIM:251255
HP:0004213	Abnormal 5th finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0004213	Abnormal 5th finger phalanx morphology	10236	HNRNPR	OMIM:620073
HP:0004213	Abnormal 5th finger phalanx morphology	57492	ARID1B	OMIM:135900
HP:0004213	Abnormal 5th finger phalanx morphology	6598	SMARCB1	OMIM:614608
HP:0004213	Abnormal 5th finger phalanx morphology	4882	NPR2	OMIM:615923
HP:0004213	Abnormal 5th finger phalanx morphology	2697	GJA1	OMIM:257850
HP:0004213	Abnormal 5th finger phalanx morphology	526	ATP6V1B2	OMIM:124480
HP:0004213	Abnormal 5th finger phalanx morphology	9742	IFT140	OMIM:266920
HP:0004213	Abnormal 5th finger phalanx morphology	9241	NOG	OMIM:186500
HP:0004213	Abnormal 5th finger phalanx morphology	9241	NOG	OMIM:184460
HP:0004213	Abnormal 5th finger phalanx morphology	4920	ROR2	OMIM:268310
HP:0004213	Abnormal 5th finger phalanx morphology	727857	BHLHA9	OMIM:609432
HP:0004213	Abnormal 5th finger phalanx morphology	658	BMPR1B	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	8200	GDF5	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	650	BMP2	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	56992	KIF15	ORPHA:261323
HP:0004213	Abnormal 5th finger phalanx morphology	7700	ZNF141	OMIM:615226
HP:0004218	Symphalangism of the 5th finger	9241	NOG	OMIM:186500
HP:0004218	Symphalangism of the 5th finger	9241	NOG	OMIM:184460
HP:0004218	Symphalangism of the 5th finger	4920	ROR2	OMIM:268310
HP:0004218	Symphalangism of the 5th finger	8200	GDF5	OMIM:615298
HP:0004218	Symphalangism of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004218	Symphalangism of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0004219	Abnormality of the middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	658	BMPR1B	OMIM:616849
HP:0004219	Abnormality of the middle phalanx of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	OMIM:615072
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	ORPHA:63442
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	ORPHA:93396
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	OMIM:113100
HP:0004219	Abnormality of the middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	650	BMP2	ORPHA:93396
HP:0004219	Abnormality of the middle phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0004219	Abnormality of the middle phalanx of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004219	Abnormality of the middle phalanx of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004219	Abnormality of the middle phalanx of the 5th finger	51199	NIN	ORPHA:319675
HP:0004219	Abnormality of the middle phalanx of the 5th finger	51199	NIN	OMIM:614851
HP:0004219	Abnormality of the middle phalanx of the 5th finger	7474	WNT5A	OMIM:180700
HP:0004219	Abnormality of the middle phalanx of the 5th finger	1855	DVL1	OMIM:180700
HP:0004219	Abnormality of the middle phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0004219	Abnormality of the middle phalanx of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0004219	Abnormality of the middle phalanx of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004219	Abnormality of the middle phalanx of the 5th finger	860	RUNX2	OMIM:119600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	860	RUNX2	OMIM:156510
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2623	GATA1	OMIM:190685
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2783	GNB2	OMIM:619503
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2697	GJA1	OMIM:164200
HP:0004219	Abnormality of the middle phalanx of the 5th finger	5932	RBBP8	OMIM:251255
HP:0004219	Abnormality of the middle phalanx of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004219	Abnormality of the middle phalanx of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0004219	Abnormality of the middle phalanx of the 5th finger	9742	IFT140	OMIM:266920
HP:0004225	Abnormality of the distal phalanx of the 5th finger	1280	COL2A1	OMIM:271700
HP:0004225	Abnormality of the distal phalanx of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004225	Abnormality of the distal phalanx of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004225	Abnormality of the distal phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004225	Abnormality of the distal phalanx of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0004225	Abnormality of the distal phalanx of the 5th finger	4882	NPR2	OMIM:615923
HP:0004225	Abnormality of the distal phalanx of the 5th finger	2697	GJA1	OMIM:257850
HP:0004225	Abnormality of the distal phalanx of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0004232	Accessory carpal bones	2316	FLNA	OMIM:311300
HP:0004232	Accessory carpal bones	2317	FLNB	OMIM:150250
HP:0004232	Accessory carpal bones	2317	FLNB	ORPHA:503
HP:0004236	Irregular carpal bones	1311	COMP	ORPHA:750
HP:0004236	Irregular carpal bones	1311	COMP	OMIM:177170
HP:0004236	Irregular carpal bones	79158	GNPTAB	OMIM:252600
HP:0004236	Irregular carpal bones	9451	EIF2AK3	OMIM:226980
HP:0004237	Large carpal bones	54808	DYM	ORPHA:239
HP:0004237	Large carpal bones	3417	IDH1	ORPHA:99646
HP:0040300	Abnormal circulating free fatty acid concentration	37	ACADVL	ORPHA:26793
HP:0040300	Abnormal circulating free fatty acid concentration	208	AKT2	ORPHA:293964
HP:0040300	Abnormal circulating free fatty acid concentration	3033	HADH	ORPHA:71212
HP:0040300	Abnormal circulating free fatty acid concentration	22845	DOLK	OMIM:610768
HP:0040300	Abnormal circulating free fatty acid concentration	132158	GLYCTK	ORPHA:941
HP:0040300	Abnormal circulating free fatty acid concentration	7351	UCP2	ORPHA:276556
HP:0040300	Abnormal circulating free fatty acid concentration	6927	HNF1A	ORPHA:324575
HP:0040300	Abnormal circulating free fatty acid concentration	6833	ABCC8	ORPHA:276575
HP:0040300	Abnormal circulating free fatty acid concentration	3767	KCNJ11	ORPHA:79644
HP:0040301	Increased urinary glycerol	10165	SLC25A13	ORPHA:247598
HP:0040301	Increased urinary glycerol	2203	FBP1	OMIM:229700
HP:0040301	Increased urinary glycerol	2203	FBP1	ORPHA:348
HP:0040301	Increased urinary glycerol	2710	GK	OMIM:307030
HP:0040302	Hyperglycerolemia	2710	GK	OMIM:307030
HP:0040303	Decreased serum iron	64170	CARD9	OMIM:212050
HP:0040303	Decreased serum iron	1356	CP	OMIM:604290
HP:0040303	Decreased serum iron	1356	CP	ORPHA:48818
HP:0040303	Decreased serum iron	6499	SKIC2	OMIM:614602
HP:0040303	Decreased serum iron	51095	TRNT1	OMIM:616959
HP:0040303	Decreased serum iron	27086	FOXP1	ORPHA:391372
HP:0040303	Decreased serum iron	1294	COL7A1	ORPHA:89842
HP:0040303	Decreased serum iron	5277	PIGA	ORPHA:447
HP:0040306	Decreased male libido	4221	MEN1	ORPHA:652
HP:0040306	Decreased male libido	1027	CDKN1B	ORPHA:652
HP:0040306	Decreased male libido	1026	CDKN1A	ORPHA:652
HP:0040306	Decreased male libido	1030	CDKN2B	ORPHA:652
HP:0040306	Decreased male libido	1031	CDKN2C	ORPHA:652
HP:0040307	Male sexual dysfunction	1027	CDKN1B	ORPHA:652
HP:0040307	Male sexual dysfunction	1026	CDKN1A	ORPHA:652
HP:0040307	Male sexual dysfunction	1030	CDKN2B	ORPHA:652
HP:0040307	Male sexual dysfunction	1031	CDKN2C	ORPHA:652
HP:0040307	Male sexual dysfunction	26012	NSMF	ORPHA:432
HP:0040307	Male sexual dysfunction	2796	GNRH1	ORPHA:432
HP:0040307	Male sexual dysfunction	2798	GNRHR	ORPHA:432
HP:0040307	Male sexual dysfunction	84634	KISS1R	ORPHA:432
HP:0040307	Male sexual dysfunction	6866	TAC3	ORPHA:432
HP:0040307	Male sexual dysfunction	3814	KISS1	ORPHA:432
HP:0040307	Male sexual dysfunction	8913	CACNA1G	ORPHA:458803
HP:0040307	Male sexual dysfunction	2982	GUCY1A1	OMIM:615750
HP:0040307	Male sexual dysfunction	8314	BAP1	ORPHA:2495
HP:0040307	Male sexual dysfunction	4771	NF2	ORPHA:2495
HP:0040307	Male sexual dysfunction	6598	SMARCB1	ORPHA:2495
HP:0040307	Male sexual dysfunction	5155	PDGFB	ORPHA:2495
HP:0040307	Male sexual dysfunction	84231	TRAF7	ORPHA:2495
HP:0040307	Male sexual dysfunction	6608	SMO	ORPHA:2495
HP:0040307	Male sexual dysfunction	207	AKT1	ORPHA:2495
HP:0040307	Male sexual dysfunction	5290	PIK3CA	ORPHA:2495
HP:0040307	Male sexual dysfunction	7015	TERT	ORPHA:2495
HP:0040307	Male sexual dysfunction	51684	SUFU	ORPHA:2495
HP:0040307	Male sexual dysfunction	6605	SMARCE1	ORPHA:2495
HP:0040307	Male sexual dysfunction	83550	GPR101	ORPHA:963
HP:0040307	Male sexual dysfunction	7036	TFR2	OMIM:604250
HP:0040307	Male sexual dysfunction	2332	FMR1	ORPHA:93256
HP:0040307	Male sexual dysfunction	2332	FMR1	OMIM:300623
HP:0040307	Male sexual dysfunction	7276	TTR	OMIM:105210
HP:0040307	Male sexual dysfunction	7276	TTR	ORPHA:85447
HP:0040307	Male sexual dysfunction	5277	PIGA	ORPHA:447
HP:0040307	Male sexual dysfunction	724066	ATXN8	ORPHA:98760
HP:0040307	Male sexual dysfunction	6315	ATXN8OS	ORPHA:98760
HP:0040307	Male sexual dysfunction	26278	SACS	ORPHA:98
HP:0040307	Male sexual dysfunction	3074	HEXB	OMIM:268800
HP:0040307	Male sexual dysfunction	57817	HAMP	ORPHA:79230
HP:0040307	Male sexual dysfunction	148738	HJV	ORPHA:79230
HP:0040307	Male sexual dysfunction	30061	SLC40A1	OMIM:606069
HP:0040307	Male sexual dysfunction	650	BMP2	OMIM:235200
HP:0040307	Male sexual dysfunction	27235	COQ2	ORPHA:227510
HP:0040307	Male sexual dysfunction	27235	COQ2	ORPHA:98933
HP:0040307	Male sexual dysfunction	4001	LMNB1	OMIM:169500
HP:0040307	Male sexual dysfunction	6253	RTN2	ORPHA:100993
HP:0040307	Male sexual dysfunction	51271	UBAP1	ORPHA:100993
HP:0040307	Male sexual dysfunction	54832	VPS13C	ORPHA:2828
HP:0040307	Male sexual dysfunction	11315	PARK7	ORPHA:2828
HP:0040307	Male sexual dysfunction	7345	UCHL1	ORPHA:2828
HP:0040307	Male sexual dysfunction	27429	HTRA2	ORPHA:2828
HP:0040307	Male sexual dysfunction	120892	LRRK2	ORPHA:2828
HP:0040307	Male sexual dysfunction	9829	DNAJC6	ORPHA:2828
HP:0040307	Male sexual dysfunction	6622	SNCA	ORPHA:2828
HP:0040307	Male sexual dysfunction	5420	PODXL	ORPHA:2828
HP:0040307	Male sexual dysfunction	65018	PINK1	ORPHA:2828
HP:0040307	Male sexual dysfunction	8867	SYNJ1	ORPHA:2828
HP:0040307	Male sexual dysfunction	5071	PRKN	ORPHA:2828
HP:0040307	Male sexual dysfunction	64072	CDH23	ORPHA:91347
HP:0040307	Male sexual dysfunction	64072	CDH23	ORPHA:2965
HP:0040307	Male sexual dysfunction	4221	MEN1	ORPHA:2965
HP:0040307	Male sexual dysfunction	9049	AIP	ORPHA:2965
HP:0040307	Male sexual dysfunction	654	BMP6	ORPHA:465508
HP:0040307	Male sexual dysfunction	3077	HFE	ORPHA:465508
HP:0040307	Male sexual dysfunction	367	AR	ORPHA:481
HP:0040307	Male sexual dysfunction	2581	GALC	ORPHA:206448
HP:0040307	Male sexual dysfunction	3662	IRF4	ORPHA:3452
HP:0040307	Male sexual dysfunction	4693	NDP	ORPHA:649
HP:0040307	Male sexual dysfunction	2260	FGFR1	ORPHA:478
HP:0040307	Male sexual dysfunction	10371	SEMA3A	ORPHA:478
HP:0040307	Male sexual dysfunction	81848	SPRY4	ORPHA:478
HP:0040307	Male sexual dysfunction	23767	FLRT3	ORPHA:478
HP:0040307	Male sexual dysfunction	128674	PROKR2	ORPHA:478
HP:0040307	Male sexual dysfunction	79625	NDNF	ORPHA:478
HP:0040307	Male sexual dysfunction	2253	FGF8	ORPHA:478
HP:0040307	Male sexual dysfunction	389549	FEZF1	ORPHA:478
HP:0040307	Male sexual dysfunction	1630	DCC	ORPHA:478
HP:0040307	Male sexual dysfunction	3730	ANOS1	ORPHA:478
HP:0040307	Male sexual dysfunction	54756	IL17RD	ORPHA:478
HP:0040307	Male sexual dysfunction	6663	SOX10	ORPHA:478
HP:0040307	Male sexual dysfunction	285025	CCDC141	ORPHA:478
HP:0040307	Male sexual dysfunction	60675	PROK2	ORPHA:478
HP:0040307	Male sexual dysfunction	55636	CHD7	ORPHA:478
HP:0040307	Male sexual dysfunction	1848	DUSP6	ORPHA:478
HP:0040307	Male sexual dysfunction	6870	TACR3	ORPHA:478
HP:0040307	Male sexual dysfunction	55717	WDR11	ORPHA:478
HP:0040307	Male sexual dysfunction	9394	HS6ST1	ORPHA:478
HP:0040307	Male sexual dysfunction	8820	HESX1	ORPHA:478
HP:0040307	Male sexual dysfunction	8822	FGF17	ORPHA:478
HP:0040307	Male sexual dysfunction	215	ABCD1	ORPHA:139399
HP:0040307	Male sexual dysfunction	3043	HBB	OMIM:603903
HP:0040309	Increased size of the mandible	26137	ZBTB20	OMIM:259050
HP:0040309	Increased size of the mandible	2316	FLNA	OMIM:300048
HP:0004240	Sclerotic foci within carpal bones	23592	LEMD3	ORPHA:166119
HP:0004242	Broad carpal bones	54808	DYM	ORPHA:239
HP:0004242	Broad carpal bones	3417	IDH1	ORPHA:99646
HP:0004243	Abnormality of the scaphoid	64327	LMBR1	ORPHA:93321
HP:0004243	Abnormality of the scaphoid	6469	SHH	ORPHA:93321
HP:0040310	Sterile arthritis	9051	PSTPIP1	OMIM:604416
HP:0040313	Oligoarthritis	7132	TNFRSF1A	OMIM:142680
HP:0040313	Oligoarthritis	26525	IL36RN	OMIM:614204
HP:0040313	Oligoarthritis	6775	STAT4	ORPHA:85408
HP:0040313	Oligoarthritis	6775	STAT4	ORPHA:85410
HP:0040313	Oligoarthritis	3560	IL2RB	ORPHA:85408
HP:0040313	Oligoarthritis	3560	IL2RB	ORPHA:85410
HP:0040313	Oligoarthritis	79722	ANKRD55	ORPHA:85408
HP:0040313	Oligoarthritis	79722	ANKRD55	ORPHA:85410
HP:0040313	Oligoarthritis	26191	PTPN22	ORPHA:85408
HP:0040313	Oligoarthritis	26191	PTPN22	ORPHA:85410
HP:0040313	Oligoarthritis	919	CD247	ORPHA:85408
HP:0040313	Oligoarthritis	919	CD247	ORPHA:85410
HP:0040313	Oligoarthritis	3559	IL2RA	ORPHA:85408
HP:0040313	Oligoarthritis	3559	IL2RA	ORPHA:85410
HP:0040313	Oligoarthritis	5771	PTPN2	ORPHA:85408
HP:0040313	Oligoarthritis	5771	PTPN2	ORPHA:85410
HP:0040313	Oligoarthritis	4210	MEFV	ORPHA:3243
HP:0040313	Oligoarthritis	10043	TOM1	OMIM:619510
HP:0040313	Oligoarthritis	3106	HLA-B	OMIM:106300
HP:0040314	Blind vagina	367	AR	ORPHA:90797
HP:0040314	Blind vagina	367	AR	OMIM:300068
HP:0040314	Blind vagina	367	AR	ORPHA:99429
HP:0040314	Blind vagina	7490	WT1	OMIM:608978
HP:0040314	Blind vagina	10046	MAMLD1	ORPHA:456328
HP:0040314	Blind vagina	4534	MTM1	ORPHA:456328
HP:0040314	Blind vagina	1586	CYP17A1	ORPHA:90793
HP:0040315	Tongue edema	7512	XPNPEP2	ORPHA:100057
HP:0040315	Tongue edema	710	SERPING1	ORPHA:100050
HP:0030261	Absent penis	114034	TOE1	ORPHA:284339
HP:0030261	Absent penis	9562	MINPP1	ORPHA:284339
HP:0040318	Red urine	7390	UROS	OMIM:263700
HP:0040318	Red urine	7389	UROD	ORPHA:95159
HP:0040318	Red urine	1371	CPOX	OMIM:618892
HP:0040319	Dark urine	286410	ATP11C	OMIM:301015
HP:0040319	Dark urine	5837	PYGM	OMIM:232600
HP:0040319	Dark urine	5837	PYGM	ORPHA:368
HP:0040319	Dark urine	1371	CPOX	ORPHA:79273
HP:0040319	Dark urine	23175	LPIN1	ORPHA:99845
HP:0040319	Dark urine	4512	MT-CO1	ORPHA:99845
HP:0040319	Dark urine	4514	MT-CO3	ORPHA:99845
HP:0040319	Dark urine	6775	STAT4	ORPHA:93552
HP:0040319	Dark urine	6696	SPP1	ORPHA:93552
HP:0040319	Dark urine	3654	IRAK1	ORPHA:93552
HP:0040319	Dark urine	3145	HMBS	ORPHA:79276
HP:0040319	Dark urine	79989	IFT56	OMIM:619534
HP:0040319	Dark urine	6718	AKR1D1	ORPHA:79303
HP:0004252	Abnormality of the trapezium	64327	LMBR1	ORPHA:93321
HP:0004252	Abnormality of the trapezium	6469	SHH	ORPHA:93321
HP:0040320	Red-brown urine	1376	CPT2	ORPHA:228302
HP:0040320	Red-brown urine	1376	CPT2	ORPHA:228305
HP:0040320	Red-brown urine	1376	CPT2	ORPHA:228308
HP:0040320	Red-brown urine	7390	UROS	ORPHA:79277
HP:0040320	Red-brown urine	2623	GATA1	ORPHA:79277
HP:0040320	Red-brown urine	7389	UROD	ORPHA:95159
HP:0040322	Purple urine	210	ALAD	ORPHA:100924
HP:0040322	Purple urine	7390	UROS	ORPHA:79277
HP:0040322	Purple urine	2623	GATA1	ORPHA:79277
HP:0040322	Purple urine	7389	UROD	ORPHA:95159
HP:0040326	Hypoplasia of the olfactory bulb	5455	POU3F3	OMIM:618604
HP:0040326	Hypoplasia of the olfactory bulb	10381	TUBB3	ORPHA:300570
HP:0040326	Hypoplasia of the olfactory bulb	10371	SEMA3A	OMIM:614897
HP:0040326	Hypoplasia of the olfactory bulb	170825	GSX2	OMIM:618646
HP:0040326	Hypoplasia of the olfactory bulb	57688	ZSWIM6	ORPHA:1827
HP:0040326	Hypoplasia of the olfactory bulb	23347	SMCHD1	ORPHA:2250
HP:0040327	Abnormal morphology of the olfactory bulb	9786	KIAA0586	OMIM:616546
HP:0040327	Abnormal morphology of the olfactory bulb	2260	FGFR1	OMIM:147950
HP:0040327	Abnormal morphology of the olfactory bulb	22858	CILK1	OMIM:612651
HP:0040327	Abnormal morphology of the olfactory bulb	10371	SEMA3A	OMIM:614897
HP:0040327	Abnormal morphology of the olfactory bulb	2065	ERBB3	OMIM:243180
HP:0040327	Abnormal morphology of the olfactory bulb	57688	ZSWIM6	OMIM:603671
HP:0040327	Abnormal morphology of the olfactory bulb	60675	PROK2	OMIM:610628
HP:0040327	Abnormal morphology of the olfactory bulb	128674	PROKR2	OMIM:244200
HP:0040327	Abnormal morphology of the olfactory bulb	5455	POU3F3	OMIM:618604
HP:0040327	Abnormal morphology of the olfactory bulb	170825	GSX2	OMIM:618646
HP:0040327	Abnormal morphology of the olfactory bulb	23347	SMCHD1	ORPHA:2250
HP:0040327	Abnormal morphology of the olfactory bulb	28514	DLL1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	28514	DLL1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	28514	DLL1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	28514	DLL1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	10735	STAG2	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	10735	STAG2	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	2253	FGF8	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	2253	FGF8	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	2253	FGF8	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	2253	FGF8	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	8243	SMC1A	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	6496	SIX3	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	6496	SIX3	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	6496	SIX3	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	6496	SIX3	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	7050	TGIF1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	7050	TGIF1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	7050	TGIF1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	7050	TGIF1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	4838	NODAL	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	4838	NODAL	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	4838	NODAL	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	4838	NODAL	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	6469	SHH	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	6469	SHH	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	6469	SHH	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	6469	SHH	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	7546	ZIC2	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	7546	ZIC2	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	7546	ZIC2	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	7546	ZIC2	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	6491	STIL	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	6491	STIL	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	6491	STIL	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	6491	STIL	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	2619	GAS1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	2619	GAS1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	2619	GAS1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	2619	GAS1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	84976	DISP1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	84976	DISP1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	84976	DISP1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	84976	DISP1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	2736	GLI2	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	2736	GLI2	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	2736	GLI2	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	2736	GLI2	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	8928	FOXH1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	8928	FOXH1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	8928	FOXH1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	8928	FOXH1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	5727	PTCH1	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	5727	PTCH1	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	5727	PTCH1	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	5727	PTCH1	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	50937	CDON	ORPHA:220386
HP:0040327	Abnormal morphology of the olfactory bulb	50937	CDON	ORPHA:93926
HP:0040327	Abnormal morphology of the olfactory bulb	50937	CDON	ORPHA:93924
HP:0040327	Abnormal morphology of the olfactory bulb	50937	CDON	ORPHA:93925
HP:0040327	Abnormal morphology of the olfactory bulb	347733	TUBB2B	ORPHA:467166
HP:0040327	Abnormal morphology of the olfactory bulb	7846	TUBA1A	ORPHA:467166
HP:0040327	Abnormal morphology of the olfactory bulb	10381	TUBB3	ORPHA:467166
HP:0040327	Abnormal morphology of the olfactory bulb	23007	PLCH1	ORPHA:93925
HP:0040328	Focal hyperintensity of cerebral white matter on MRI	11277	TREX1	ORPHA:247691
HP:0040328	Focal hyperintensity of cerebral white matter on MRI	54704	PDP1	ORPHA:79246
HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	4854	NOTCH3	ORPHA:136
HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	2548	GAA	ORPHA:308552
HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	83480	PUS3	ORPHA:488627
HP:0004259	Abnormality of the hamate bone	5566	PRKACA	ORPHA:289
HP:0004259	Abnormality of the hamate bone	5567	PRKACB	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2735	GLI1	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2121	EVC	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2121	EVC	OMIM:225500
HP:0004259	Abnormality of the hamate bone	51626	DYNC2LI1	ORPHA:289
HP:0004259	Abnormality of the hamate bone	132884	EVC2	ORPHA:289
HP:0004259	Abnormality of the hamate bone	132884	EVC2	OMIM:225500
HP:0004259	Abnormality of the hamate bone	2316	FLNA	OMIM:311300
HP:0004259	Abnormality of the hamate bone	64093	SMOC1	OMIM:206920
HP:0004259	Abnormality of the hamate bone	538	ATP7A	OMIM:304150
HP:0004259	Abnormality of the hamate bone	2317	FLNB	OMIM:272460
HP:0004259	Abnormality of the hamate bone	54928	BPNT2	OMIM:614078
HP:0004259	Abnormality of the hamate bone	2261	FGFR3	OMIM:602849
HP:0004262	Abnormality of the capitate bone	5566	PRKACA	ORPHA:289
HP:0004262	Abnormality of the capitate bone	5567	PRKACB	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2735	GLI1	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2121	EVC	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2121	EVC	OMIM:225500
HP:0004262	Abnormality of the capitate bone	51626	DYNC2LI1	ORPHA:289
HP:0004262	Abnormality of the capitate bone	132884	EVC2	ORPHA:289
HP:0004262	Abnormality of the capitate bone	132884	EVC2	OMIM:225500
HP:0004262	Abnormality of the capitate bone	2316	FLNA	OMIM:311300
HP:0004262	Abnormality of the capitate bone	64093	SMOC1	OMIM:206920
HP:0004262	Abnormality of the capitate bone	538	ATP7A	OMIM:304150
HP:0004262	Abnormality of the capitate bone	2317	FLNB	OMIM:272460
HP:0004262	Abnormality of the capitate bone	54928	BPNT2	OMIM:614078
HP:0004262	Abnormality of the capitate bone	2261	FGFR3	OMIM:602849
HP:0004267	Narrow small joints of the hand	8838	CCN6	ORPHA:1159
HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	5354	PLP1	ORPHA:280210
HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	5354	PLP1	ORPHA:280219
HP:0040331	Focal hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261537
HP:0040331	Focal hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261552
HP:0040331	Focal hypointensity of cerebral white matter on MRI	11277	TREX1	ORPHA:247691
HP:0040334	Purulent rhinitis	5896	RAG1	OMIM:601457
HP:0040334	Purulent rhinitis	5897	RAG2	OMIM:601457
HP:0004268	Osteoarthritis of the small joints of the hand	4088	SMAD3	ORPHA:284984
HP:0004268	Osteoarthritis of the small joints of the hand	4148	MATN3	ORPHA:93311
HP:0004268	Osteoarthritis of the small joints of the hand	59341	TRPV4	ORPHA:85169
HP:0004268	Osteoarthritis of the small joints of the hand	6399	TRAPPC2	ORPHA:93284
HP:0004268	Osteoarthritis of the small joints of the hand	54829	ASPN	OMIM:607850
HP:0030117	Absent muscle fiber emerin	4000	LMNA	ORPHA:98855
HP:0030117	Absent muscle fiber emerin	4000	LMNA	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	2273	FHL1	ORPHA:98863
HP:0030117	Absent muscle fiber emerin	2010	EMD	ORPHA:98863
HP:0030117	Absent muscle fiber emerin	79188	TMEM43	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	23345	SYNE1	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	23224	SYNE2	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	4000	LMNA	ORPHA:98855
HP:0030116	Abnormal muscle fiber emerin	4000	LMNA	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	2273	FHL1	ORPHA:98863
HP:0030116	Abnormal muscle fiber emerin	2010	EMD	ORPHA:98863
HP:0030116	Abnormal muscle fiber emerin	79188	TMEM43	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	23345	SYNE1	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	23224	SYNE2	ORPHA:98853
HP:0030114	Absent muscle fiber dysferlin	8291	DYSF	ORPHA:178400
HP:0030113	Abnormal muscle fiber dysferlin	8291	DYSF	ORPHA:178400
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615350
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615351
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615352
HP:0030112	Abnormal muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	OMIM:609308
HP:0030112	Abnormal muscle fiber alpha dystroglycan	84197	POMK	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	2218	FKTN	ORPHA:272
HP:0030112	Abnormal muscle fiber alpha dystroglycan	2218	FKTN	OMIM:611588
HP:0030112	Abnormal muscle fiber alpha dystroglycan	729920	CRPPA	OMIM:616052
HP:0030112	Abnormal muscle fiber alpha dystroglycan	729920	CRPPA	ORPHA:352479
HP:0030112	Abnormal muscle fiber alpha dystroglycan	9570	GOSR2	OMIM:620166
HP:0030112	Abnormal muscle fiber alpha dystroglycan	1605	DAG1	ORPHA:370997
HP:0030112	Abnormal muscle fiber alpha dystroglycan	1605	DAG1	OMIM:613818
HP:0004275	Duplication of hand bones	54806	AHI1	ORPHA:475
HP:0004275	Duplication of hand bones	54806	AHI1	ORPHA:220493
HP:0004275	Duplication of hand bones	200894	ARL13B	ORPHA:475
HP:0004275	Duplication of hand bones	9731	CEP104	ORPHA:475
HP:0004275	Duplication of hand bones	23247	KATNIP	ORPHA:475
HP:0004275	Duplication of hand bones	219854	TMEM218	ORPHA:475
HP:0004275	Duplication of hand bones	95681	CEP41	ORPHA:475
HP:0004275	Duplication of hand bones	95681	CEP41	ORPHA:220493
HP:0004275	Duplication of hand bones	9786	KIAA0586	ORPHA:475
HP:0004275	Duplication of hand bones	10464	PIBF1	ORPHA:475
HP:0004275	Duplication of hand bones	23116	TOGARAM1	ORPHA:475
HP:0004275	Duplication of hand bones	25776	CBY1	ORPHA:475
HP:0004275	Duplication of hand bones	403	ARL3	ORPHA:475
HP:0004275	Duplication of hand bones	10682	EBP	ORPHA:401973
HP:0004275	Duplication of hand bones	5626	PROP1	ORPHA:226307
HP:0004275	Duplication of hand bones	89884	LHX4	ORPHA:226307
HP:0004275	Duplication of hand bones	8022	LHX3	ORPHA:226307
HP:0004275	Duplication of hand bones	5449	POU1F1	ORPHA:226307
HP:0004275	Duplication of hand bones	8820	HESX1	ORPHA:226307
HP:0004275	Duplication of hand bones	1947	EFNB1	ORPHA:1520
HP:0004275	Duplication of hand bones	5290	PIK3CA	ORPHA:60040
HP:0004275	Duplication of hand bones	10908	PNPLA6	ORPHA:2377
HP:0004275	Duplication of hand bones	51	ACOX1	ORPHA:2971
HP:0004275	Duplication of hand bones	2187	FANCB	OMIM:314390
HP:0004275	Duplication of hand bones	7547	ZIC3	OMIM:314390
HP:0004275	Duplication of hand bones	641	BLM	OMIM:210900
HP:0004275	Duplication of hand bones	2314	FLII	ORPHA:819
HP:0004275	Duplication of hand bones	23096	IQSEC2	ORPHA:819
HP:0004275	Duplication of hand bones	10743	RAI1	ORPHA:819
HP:0004275	Duplication of hand bones	10522	DEAF1	ORPHA:819
HP:0004275	Duplication of hand bones	26154	ABCA12	ORPHA:457
HP:0004275	Duplication of hand bones	8241	RBM10	ORPHA:2886
HP:0004275	Duplication of hand bones	1312	COMT	ORPHA:567
HP:0004275	Duplication of hand bones	221037	JMJD1C	ORPHA:567
HP:0004275	Duplication of hand bones	2812	GP1BB	ORPHA:567
HP:0004275	Duplication of hand bones	6239	RREB1	ORPHA:567
HP:0004275	Duplication of hand bones	6899	TBX1	ORPHA:567
HP:0004275	Duplication of hand bones	7290	HIRA	ORPHA:567
HP:0004275	Duplication of hand bones	9632	SEC24C	ORPHA:567
HP:0004275	Duplication of hand bones	7353	UFD1	ORPHA:567
HP:0004275	Duplication of hand bones	421	ARVCF	ORPHA:567
HP:0004275	Duplication of hand bones	51524	TMEM138	ORPHA:2318
HP:0004275	Duplication of hand bones	23090	ZNF423	ORPHA:2318
HP:0004275	Duplication of hand bones	10210	TOPORS	ORPHA:2754
HP:0004275	Duplication of hand bones	9897	WASHC5	ORPHA:7
HP:0004275	Duplication of hand bones	28952	CCDC22	ORPHA:7
HP:0004275	Duplication of hand bones	5566	PRKACA	ORPHA:289
HP:0004275	Duplication of hand bones	25970	SH2B1	ORPHA:261197
HP:0004275	Duplication of hand bones	5728	PTEN	ORPHA:65285
HP:0004275	Duplication of hand bones	6469	SHH	ORPHA:93405
HP:0004275	Duplication of hand bones	55636	CHD7	OMIM:214800
HP:0004275	Duplication of hand bones	2313	FLI1	ORPHA:2308
HP:0004275	Duplication of hand bones	6309	SC5D	ORPHA:46059
HP:0004275	Duplication of hand bones	6309	SC5D	OMIM:607330
HP:0004275	Duplication of hand bones	894	CCND2	ORPHA:83473
HP:0004275	Duplication of hand bones	894	CCND2	OMIM:615938
HP:0004275	Duplication of hand bones	5296	PIK3R2	ORPHA:83473
HP:0004275	Duplication of hand bones	10000	AKT3	ORPHA:83473
HP:0004275	Duplication of hand bones	10000	AKT3	OMIM:615937
HP:0004275	Duplication of hand bones	26160	IFT172	OMIM:615630
HP:0004275	Duplication of hand bones	26160	IFT172	ORPHA:474
HP:0004275	Duplication of hand bones	26160	IFT172	OMIM:619471
HP:0004275	Duplication of hand bones	26160	IFT172	ORPHA:110
HP:0004275	Duplication of hand bones	56623	INPP5E	OMIM:213300
HP:0004275	Duplication of hand bones	56623	INPP5E	ORPHA:1454
HP:0004275	Duplication of hand bones	55593	OTUD5	OMIM:301056
HP:0004275	Duplication of hand bones	1717	DHCR7	ORPHA:818
HP:0004275	Duplication of hand bones	1717	DHCR7	OMIM:270400
HP:0004275	Duplication of hand bones	10225	CD96	OMIM:211750
HP:0004275	Duplication of hand bones	6926	TBX3	ORPHA:3138
HP:0004275	Duplication of hand bones	6926	TBX3	OMIM:181450
HP:0004275	Duplication of hand bones	7476	WNT7A	OMIM:228930
HP:0004275	Duplication of hand bones	84100	ARL6	OMIM:209900
HP:0004275	Duplication of hand bones	84100	ARL6	ORPHA:110
HP:0004275	Duplication of hand bones	79140	CCDC28B	OMIM:209900
HP:0004275	Duplication of hand bones	582	BBS1	OMIM:209900
HP:0004275	Duplication of hand bones	582	BBS1	ORPHA:110
HP:0004275	Duplication of hand bones	3209	HOXA13	ORPHA:2438
HP:0004275	Duplication of hand bones	3209	HOXA13	OMIM:176305
HP:0004275	Duplication of hand bones	64093	SMOC1	ORPHA:1106
HP:0004275	Duplication of hand bones	64093	SMOC1	OMIM:206920
HP:0004275	Duplication of hand bones	5147	PDE6D	OMIM:615665
HP:0004275	Duplication of hand bones	26005	C2CD3	OMIM:615948
HP:0004275	Duplication of hand bones	26005	C2CD3	ORPHA:434179
HP:0004275	Duplication of hand bones	26040	SETBP1	OMIM:269150
HP:0004275	Duplication of hand bones	2121	EVC	ORPHA:952
HP:0004275	Duplication of hand bones	2121	EVC	OMIM:193530
HP:0004275	Duplication of hand bones	2121	EVC	OMIM:225500
HP:0004275	Duplication of hand bones	132884	EVC2	ORPHA:952
HP:0004275	Duplication of hand bones	132884	EVC2	OMIM:193530
HP:0004275	Duplication of hand bones	132884	EVC2	OMIM:225500
HP:0004275	Duplication of hand bones	153241	CEP120	ORPHA:474
HP:0004275	Duplication of hand bones	51626	DYNC2LI1	ORPHA:474
HP:0004275	Duplication of hand bones	51626	DYNC2LI1	OMIM:617088
HP:0004275	Duplication of hand bones	9742	IFT140	ORPHA:474
HP:0004275	Duplication of hand bones	9742	IFT140	OMIM:266920
HP:0004275	Duplication of hand bones	57728	WDR19	ORPHA:474
HP:0004275	Duplication of hand bones	79809	TTC21B	ORPHA:474
HP:0004275	Duplication of hand bones	64840	PORCN	OMIM:305600
HP:0004275	Duplication of hand bones	92482	BBIP1	ORPHA:110
HP:0004275	Duplication of hand bones	11020	IFT27	ORPHA:110
HP:0004275	Duplication of hand bones	49855	SCAPER	ORPHA:110
HP:0004275	Duplication of hand bones	4867	NPHP1	ORPHA:110
HP:0004275	Duplication of hand bones	27241	BBS9	ORPHA:110
HP:0004275	Duplication of hand bones	27241	BBS9	OMIM:615986
HP:0004275	Duplication of hand bones	84984	CEP19	ORPHA:110
HP:0004275	Duplication of hand bones	22954	TRIM32	ORPHA:110
HP:0004275	Duplication of hand bones	79738	BBS10	ORPHA:110
HP:0004275	Duplication of hand bones	123016	TTC8	ORPHA:110
HP:0004275	Duplication of hand bones	583	BBS2	ORPHA:110
HP:0004275	Duplication of hand bones	583	BBS2	OMIM:615981
HP:0004275	Duplication of hand bones	585	BBS4	ORPHA:110
HP:0004275	Duplication of hand bones	55212	BBS7	ORPHA:110
HP:0004275	Duplication of hand bones	166379	BBS12	ORPHA:110
HP:0004275	Duplication of hand bones	166379	BBS12	OMIM:615989
HP:0004275	Duplication of hand bones	10806	SDCCAG8	ORPHA:110
HP:0004275	Duplication of hand bones	157657	CFAP418	ORPHA:110
HP:0004275	Duplication of hand bones	157657	CFAP418	OMIM:617406
HP:0004275	Duplication of hand bones	129880	BBS5	ORPHA:110
HP:0004275	Duplication of hand bones	80173	IFT74	ORPHA:110
HP:0004275	Duplication of hand bones	79005	SCNM1	OMIM:620107
HP:0004275	Duplication of hand bones	54499	TMCO1	OMIM:213980
HP:0004275	Duplication of hand bones	2736	GLI2	OMIM:610829
HP:0004275	Duplication of hand bones	51360	MBTPS2	OMIM:308205
HP:0004275	Duplication of hand bones	51360	MBTPS2	ORPHA:85284
HP:0004275	Duplication of hand bones	80210	ARMC9	OMIM:617622
HP:0004275	Duplication of hand bones	9373	PLAA	ORPHA:521426
HP:0004275	Duplication of hand bones	2316	FLNA	OMIM:304120
HP:0004275	Duplication of hand bones	3930	LBR	OMIM:215140
HP:0004275	Duplication of hand bones	2239	GPC4	ORPHA:373
HP:0004275	Duplication of hand bones	2239	GPC4	OMIM:312870
HP:0004275	Duplication of hand bones	2719	GPC3	ORPHA:373
HP:0004275	Duplication of hand bones	2719	GPC3	OMIM:312870
HP:0004275	Duplication of hand bones	51684	SUFU	OMIM:617757
HP:0004275	Duplication of hand bones	257	ALX3	OMIM:136760
HP:0004275	Duplication of hand bones	23288	IQCE	OMIM:617642
HP:0004275	Duplication of hand bones	5567	PRKACB	OMIM:619143
HP:0004275	Duplication of hand bones	137392	CIBAR1	OMIM:618219
HP:0004275	Duplication of hand bones	7700	ZNF141	OMIM:615226
HP:0004275	Duplication of hand bones	9851	KIAA0753	OMIM:617127
HP:0004275	Duplication of hand bones	7046	TGFBR1	OMIM:609192
HP:0004275	Duplication of hand bones	255758	DYNLT2B	OMIM:617405
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:233
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:959
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:2307
HP:0004275	Duplication of hand bones	9935	MAFB	ORPHA:233
HP:0004275	Duplication of hand bones	1123	CHN1	ORPHA:233
HP:0004275	Duplication of hand bones	2137	EXTL3	ORPHA:508533
HP:0004275	Duplication of hand bones	22827	PUF60	ORPHA:508498
HP:0004275	Duplication of hand bones	65250	CPLANE1	OMIM:277170
HP:0004275	Duplication of hand bones	6608	SMO	OMIM:601707
HP:0004275	Duplication of hand bones	6608	SMO	ORPHA:1553
HP:0004275	Duplication of hand bones	4750	NEK1	OMIM:263520
HP:0004275	Duplication of hand bones	2737	GLI3	OMIM:175700
HP:0004275	Duplication of hand bones	2737	GLI3	ORPHA:380
HP:0004275	Duplication of hand bones	2737	GLI3	OMIM:174200
HP:0004275	Duplication of hand bones	64327	LMBR1	ORPHA:2378
HP:0004275	Duplication of hand bones	64327	LMBR1	OMIM:174500
HP:0004275	Duplication of hand bones	55027	HEATR3	OMIM:620072
HP:0004275	Duplication of hand bones	6299	SALL1	OMIM:107480
HP:0004275	Duplication of hand bones	6299	SALL1	ORPHA:857
HP:0004275	Duplication of hand bones	55112	DYNC2I1	ORPHA:93271
HP:0004275	Duplication of hand bones	57560	IFT80	ORPHA:93271
HP:0004275	Duplication of hand bones	57539	WDR35	ORPHA:93271
HP:0004275	Duplication of hand bones	79659	DYNC2H1	ORPHA:93271
HP:0004275	Duplication of hand bones	89891	DYNC2I2	ORPHA:93271
HP:0004275	Duplication of hand bones	374879	ZNF699	OMIM:619488
HP:0004275	Duplication of hand bones	374654	KIF7	OMIM:200990
HP:0004275	Duplication of hand bones	8318	CDC45	OMIM:617063
HP:0004275	Duplication of hand bones	51339	DACT1	ORPHA:857
HP:0004275	Duplication of hand bones	2177	FANCD2	OMIM:227646
HP:0004275	Duplication of hand bones	727857	BHLHA9	ORPHA:3329
HP:0004275	Duplication of hand bones	23133	PHF8	ORPHA:85287
HP:0004275	Duplication of hand bones	8481	OFD1	ORPHA:2750
HP:0004275	Duplication of hand bones	219844	HYLS1	OMIM:236680
HP:0004275	Duplication of hand bones	26123	TCTN3	ORPHA:2753
HP:0004275	Duplication of hand bones	26123	TCTN3	ORPHA:564
HP:0004275	Duplication of hand bones	2697	GJA1	ORPHA:2710
HP:0004275	Duplication of hand bones	3239	HOXD13	ORPHA:887
HP:0004275	Duplication of hand bones	7020	TFAP2A	OMIM:113620
HP:0004275	Duplication of hand bones	7020	TFAP2A	ORPHA:1297
HP:0004275	Duplication of hand bones	84314	TMEM107	ORPHA:564
HP:0004275	Duplication of hand bones	79867	TCTN2	ORPHA:564
HP:0004275	Duplication of hand bones	80776	B9D2	ORPHA:564
HP:0004275	Duplication of hand bones	79600	TCTN1	ORPHA:564
HP:0004275	Duplication of hand bones	57096	RPGRIP1	ORPHA:564
HP:0004275	Duplication of hand bones	79848	CSPP1	ORPHA:564
HP:0004275	Duplication of hand bones	80184	CEP290	ORPHA:564
HP:0004275	Duplication of hand bones	51259	TMEM216	ORPHA:564
HP:0004275	Duplication of hand bones	57545	CC2D2A	ORPHA:564
HP:0004275	Duplication of hand bones	79583	TMEM231	ORPHA:564
HP:0004275	Duplication of hand bones	91147	TMEM67	ORPHA:564
HP:0004275	Duplication of hand bones	79770	TXNDC15	ORPHA:564
HP:0004275	Duplication of hand bones	27077	B9D1	ORPHA:564
HP:0004275	Duplication of hand bones	23322	RPGRIP1L	ORPHA:564
HP:0004275	Duplication of hand bones	54903	MKS1	ORPHA:564
HP:0004275	Duplication of hand bones	65062	TMEM237	ORPHA:564
HP:0004275	Duplication of hand bones	10815	CPLX1	ORPHA:280
HP:0004275	Duplication of hand bones	10815	CPLX1	OMIM:194190
HP:0004275	Duplication of hand bones	54872	PIGG	ORPHA:280
HP:0004275	Duplication of hand bones	7469	NELFA	ORPHA:280
HP:0004275	Duplication of hand bones	1487	CTBP1	ORPHA:280
HP:0004275	Duplication of hand bones	1487	CTBP1	OMIM:194190
HP:0004275	Duplication of hand bones	3954	LETM1	ORPHA:280
HP:0004275	Duplication of hand bones	3954	LETM1	OMIM:194190
HP:0004275	Duplication of hand bones	7468	NSD2	ORPHA:280
HP:0004275	Duplication of hand bones	7468	NSD2	OMIM:194190
HP:0004275	Duplication of hand bones	2735	GLI1	OMIM:174400
HP:0004275	Duplication of hand bones	53834	FGFRL1	OMIM:194190
HP:0004275	Duplication of hand bones	9343	EFTUD2	OMIM:610536
HP:0004275	Duplication of hand bones	9343	EFTUD2	ORPHA:79113
HP:0004275	Duplication of hand bones	2263	FGFR2	OMIM:101200
HP:0004275	Duplication of hand bones	2317	FLNB	OMIM:150250
HP:0004275	Duplication of hand bones	2317	FLNB	ORPHA:503
HP:0004275	Duplication of hand bones	285600	KIAA0825	OMIM:618498
HP:0004275	Duplication of hand bones	51057	WDPCP	OMIM:217085
HP:0004275	Duplication of hand bones	1954	MEGF8	OMIM:614976
HP:0004275	Duplication of hand bones	7021	TFAP2B	ORPHA:46627
HP:0004275	Duplication of hand bones	54585	LZTFL1	OMIM:615994
HP:0004275	Duplication of hand bones	8195	MKKS	OMIM:236700
HP:0004275	Duplication of hand bones	51776	MAP3K20	OMIM:616890
HP:0004275	Duplication of hand bones	317662	FAM149B1	OMIM:618763
HP:0004275	Duplication of hand bones	8200	GDF5	ORPHA:93384
HP:0004275	Duplication of hand bones	658	BMPR1B	ORPHA:93384
HP:0004275	Duplication of hand bones	51715	RAB23	OMIM:201000
HP:0004275	Duplication of hand bones	55012	PPP2R3C	OMIM:618419
HP:0004275	Duplication of hand bones	5053	PAH	ORPHA:2209
HP:0004275	Duplication of hand bones	124583	CANT1	OMIM:251450
HP:0004275	Duplication of hand bones	100151683	RNU4ATAC	OMIM:210710
HP:0004275	Duplication of hand bones	4920	ROR2	OMIM:268310
HP:0004275	Duplication of hand bones	7474	WNT5A	OMIM:180700
HP:0004275	Duplication of hand bones	2702	GJA5	OMIM:612474
HP:0004275	Duplication of hand bones	2703	GJA8	OMIM:612474
HP:0004275	Duplication of hand bones	29089	UBE2T	OMIM:616435
HP:0004275	Duplication of hand bones	2261	FGFR3	OMIM:620192
HP:0004275	Duplication of hand bones	2261	FGFR3	ORPHA:2363
HP:0004275	Duplication of hand bones	2255	FGF10	ORPHA:2363
HP:0004275	Duplication of hand bones	22856	CHSY1	ORPHA:363417
HP:0004275	Duplication of hand bones	71	ACTG1	ORPHA:2995
HP:0004275	Duplication of hand bones	60	ACTB	ORPHA:2995
HP:0004275	Duplication of hand bones	2176	FANCC	OMIM:227645
HP:0004275	Duplication of hand bones	2178	FANCE	OMIM:600901
HP:0004275	Duplication of hand bones	157570	ESCO2	ORPHA:3103
HP:0004275	Duplication of hand bones	6472	SHMT2	OMIM:619121
HP:0004275	Duplication of hand bones	8260	NAA10	ORPHA:568
HP:0004275	Duplication of hand bones	54880	BCOR	ORPHA:568
HP:0004275	Duplication of hand bones	2175	FANCA	OMIM:227650
HP:0004275	Duplication of hand bones	6910	TBX5	OMIM:142900
HP:0004275	Duplication of hand bones	6135	RPL11	ORPHA:124
HP:0004275	Duplication of hand bones	6138	RPL15	ORPHA:124
HP:0004275	Duplication of hand bones	6229	RPS24	ORPHA:124
HP:0004275	Duplication of hand bones	6125	RPL5	ORPHA:124
HP:0004275	Duplication of hand bones	6204	RPS10	ORPHA:124
HP:0004275	Duplication of hand bones	6224	RPS20	ORPHA:124
HP:0004275	Duplication of hand bones	6165	RPL35A	ORPHA:124
HP:0004275	Duplication of hand bones	2623	GATA1	ORPHA:124
HP:0004275	Duplication of hand bones	6223	RPS19	ORPHA:124
HP:0004275	Duplication of hand bones	6223	RPS19	OMIM:105650
HP:0004275	Duplication of hand bones	6232	RPS27	ORPHA:124
HP:0004275	Duplication of hand bones	6231	RPS26	ORPHA:124
HP:0004275	Duplication of hand bones	11224	RPL35	ORPHA:124
HP:0004275	Duplication of hand bones	6160	RPL31	ORPHA:124
HP:0004275	Duplication of hand bones	6218	RPS17	ORPHA:124
HP:0004275	Duplication of hand bones	6201	RPS7	ORPHA:124
HP:0004275	Duplication of hand bones	6155	RPL27	ORPHA:124
HP:0004275	Duplication of hand bones	6154	RPL26	ORPHA:124
HP:0004275	Duplication of hand bones	6210	RPS15A	ORPHA:124
HP:0004275	Duplication of hand bones	90121	TSR2	ORPHA:124
HP:0004275	Duplication of hand bones	6141	RPL18	ORPHA:124
HP:0004275	Duplication of hand bones	6235	RPS29	ORPHA:124
HP:0004275	Duplication of hand bones	6234	RPS28	ORPHA:124
HP:0004275	Duplication of hand bones	51816	ADA2	ORPHA:124
HP:0004275	Duplication of hand bones	1855	DVL1	OMIM:616331
HP:0004275	Duplication of hand bones	57122	NUP107	OMIM:616730
HP:0004275	Duplication of hand bones	57122	NUP107	OMIM:618348
HP:0004275	Duplication of hand bones	10992	SF3B2	OMIM:164210
HP:0004275	Duplication of hand bones	27152	INTU	OMIM:617926
HP:0004275	Duplication of hand bones	7291	TWIST1	OMIM:101400
HP:0004275	Duplication of hand bones	23592	LEMD3	ORPHA:1879
HP:0004275	Duplication of hand bones	83479	DDX59	ORPHA:2919
HP:0004278	Synostosis involving bones of the hand	3549	IHH	OMIM:112500
HP:0004278	Synostosis involving bones of the hand	3549	IHH	ORPHA:93388
HP:0004278	Synostosis involving bones of the hand	538	ATP7A	OMIM:304150
HP:0004278	Synostosis involving bones of the hand	54928	BPNT2	OMIM:614078
HP:0004278	Synostosis involving bones of the hand	64359	NXN	ORPHA:1507
HP:0004278	Synostosis involving bones of the hand	4920	ROR2	ORPHA:1507
HP:0004278	Synostosis involving bones of the hand	64327	LMBR1	ORPHA:988
HP:0004278	Synostosis involving bones of the hand	6469	SHH	ORPHA:988
HP:0004278	Synostosis involving bones of the hand	157570	ESCO2	ORPHA:3103
HP:0004278	Synostosis involving bones of the hand	3209	HOXA13	ORPHA:2438
HP:0004278	Synostosis involving bones of the hand	5566	PRKACA	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	5567	PRKACB	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	2735	GLI1	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	2121	EVC	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	51626	DYNC2LI1	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	132884	EVC2	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	9555	MACROH2A1	ORPHA:1275
HP:0004278	Synostosis involving bones of the hand	5307	PITX1	ORPHA:1275
HP:0004278	Synostosis involving bones of the hand	324	APC	ORPHA:3258
HP:0004278	Synostosis involving bones of the hand	2263	FGFR2	OMIM:101200
HP:0004278	Synostosis involving bones of the hand	8823	FGF16	OMIM:309630
HP:0004278	Synostosis involving bones of the hand	64093	SMOC1	OMIM:206920
HP:0004278	Synostosis involving bones of the hand	9775	EIF4A3	OMIM:268305
HP:0004278	Synostosis involving bones of the hand	9791	PTDSS1	OMIM:151050
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:611377
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:186570
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:185800
HP:0004278	Synostosis involving bones of the hand	22856	CHSY1	ORPHA:363417
HP:0004278	Synostosis involving bones of the hand	2316	FLNA	OMIM:305620
HP:0004278	Synostosis involving bones of the hand	7021	TFAP2B	OMIM:169100
HP:0004278	Synostosis involving bones of the hand	10084	PQBP1	OMIM:309500
HP:0004278	Synostosis involving bones of the hand	4841	NONO	OMIM:300967
HP:0004278	Synostosis involving bones of the hand	9401	RECQL4	ORPHA:221016
HP:0004278	Synostosis involving bones of the hand	8200	GDF5	OMIM:610017
HP:0004278	Synostosis involving bones of the hand	64682	ANAPC1	ORPHA:221008
HP:0004278	Synostosis involving bones of the hand	727857	BHLHA9	ORPHA:157801
HP:0004278	Synostosis involving bones of the hand	2254	FGF9	OMIM:612961
HP:0004278	Synostosis involving bones of the hand	4038	LRP4	OMIM:212780
HP:0004278	Synostosis involving bones of the hand	7291	TWIST1	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	6938	TCF12	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	7545	ZIC1	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	4621	MYH3	OMIM:178110
HP:0004278	Synostosis involving bones of the hand	5447	POR	OMIM:201750
HP:0004278	Synostosis involving bones of the hand	85301	COL27A1	OMIM:615155
HP:0004278	Synostosis involving bones of the hand	57167	SALL4	OMIM:147750
HP:0004278	Synostosis involving bones of the hand	2261	FGFR3	ORPHA:53271
HP:0004278	Synostosis involving bones of the hand	2317	FLNB	OMIM:272460
HP:0004278	Synostosis involving bones of the hand	9939	RBM8A	OMIM:274000
HP:0004278	Synostosis involving bones of the hand	5077	PAX3	OMIM:148820
HP:0004278	Synostosis involving bones of the hand	658	BMPR1B	OMIM:609441
HP:0004278	Synostosis involving bones of the hand	3239	HOXD13	OMIM:186300
HP:0004278	Synostosis involving bones of the hand	6885	MAP3K7	OMIM:157800
HP:0004278	Synostosis involving bones of the hand	2192	FBLN1	OMIM:608180
HP:0004278	Synostosis involving bones of the hand	126792	B3GALT6	OMIM:615349
HP:0004278	Synostosis involving bones of the hand	126792	B3GALT6	OMIM:271640
HP:0030126	Abnormal endometrium morphology	4292	MLH1	ORPHA:587
HP:0030126	Abnormal endometrium morphology	2956	MSH6	ORPHA:587
HP:0030126	Abnormal endometrium morphology	2956	MSH6	OMIM:614350
HP:0030126	Abnormal endometrium morphology	2956	MSH6	OMIM:608089
HP:0030126	Abnormal endometrium morphology	4436	MSH2	ORPHA:587
HP:0030126	Abnormal endometrium morphology	10483	SEC23B	ORPHA:201
HP:0030126	Abnormal endometrium morphology	5728	PTEN	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6390	SDHB	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6392	SDHD	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6391	SDHC	ORPHA:201
HP:0030126	Abnormal endometrium morphology	207	AKT1	ORPHA:201
HP:0030126	Abnormal endometrium morphology	205717	USF3	ORPHA:201
HP:0030126	Abnormal endometrium morphology	5290	PIK3CA	ORPHA:201
HP:0030126	Abnormal endometrium morphology	100144748	KLLN	ORPHA:201
HP:0030126	Abnormal endometrium morphology	388662	SLC6A17	ORPHA:457212
HP:0030126	Abnormal endometrium morphology	5424	POLD1	OMIM:612591
HP:0030126	Abnormal endometrium morphology	5424	POLD1	ORPHA:447877
HP:0030126	Abnormal endometrium morphology	26585	GREM1	ORPHA:157794
HP:0030126	Abnormal endometrium morphology	657	BMPR1A	ORPHA:157794
HP:0030126	Abnormal endometrium morphology	4913	NTHL1	ORPHA:454840
HP:0030126	Abnormal endometrium morphology	4913	NTHL1	OMIM:616415
HP:0030126	Abnormal endometrium morphology	4072	EPCAM	OMIM:613244
HP:0030126	Abnormal endometrium morphology	5395	PMS2	OMIM:614337
HP:0030126	Abnormal endometrium morphology	5426	POLE	ORPHA:447877
HP:0030126	Abnormal endometrium morphology	999	CDH1	OMIM:608089
HP:0030126	Abnormal endometrium morphology	4437	MSH3	OMIM:608089
HP:0030126	Abnormal endometrium morphology	27030	MLH3	OMIM:608089
HP:0030126	Abnormal endometrium morphology	79228	THOC6	ORPHA:363444
HP:0030126	Abnormal endometrium morphology	79228	THOC6	OMIM:613680
HP:0004280	Irregular ossification of hand bones	5727	PTCH1	OMIM:109400
HP:0004281	Irregular sclerosis of hand bones	23592	LEMD3	ORPHA:166119
HP:0004281	Irregular sclerosis of hand bones	2697	GJA1	OMIM:218400
HP:0004283	Narrow palm	6638	SNRPN	ORPHA:177910
HP:0004283	Narrow palm	4692	NDN	ORPHA:177910
HP:0004283	Narrow palm	54551	MAGEL2	ORPHA:177910
HP:0004283	Narrow palm	54551	MAGEL2	OMIM:615547
HP:0004283	Narrow palm	54551	MAGEL2	OMIM:176270
HP:0004283	Narrow palm	157680	VPS13B	ORPHA:193
HP:0004283	Narrow palm	157680	VPS13B	OMIM:216550
HP:0004283	Narrow palm	26053	AUTS2	ORPHA:352490
HP:0004283	Narrow palm	56896	DPYSL5	OMIM:619435
HP:0004283	Narrow palm	89910	UBE3B	OMIM:244450
HP:0004283	Narrow palm	2782	GNB1	OMIM:616973
HP:0004283	Narrow palm	6611	SMS	OMIM:309583
HP:0004283	Narrow palm	284058	KANSL1	OMIM:610443
HP:0004283	Narrow palm	9757	KMT2B	OMIM:619934
HP:0004283	Narrow palm	7681	MKRN3	OMIM:176270
HP:0004283	Narrow palm	3653	IPW	OMIM:176270
HP:0004283	Narrow palm	791114	PWRN1	OMIM:176270
HP:0004283	Narrow palm	100033413	SNORD116-1	OMIM:176270
HP:0004283	Narrow palm	8924	HERC2	OMIM:176270
HP:0004283	Narrow palm	145624	PWAR1	OMIM:176270
HP:0004283	Narrow palm	23742	NPAP1	OMIM:176270
HP:0004283	Narrow palm	338433	SNORD115-1	OMIM:176270
HP:0004286	Patchy sclerosis of hand bones	2697	GJA1	OMIM:218400
HP:0004288	Pseudoepiphyses of hand bones	579	NKX3-2	OMIM:613330
HP:0004288	Pseudoepiphyses of hand bones	6299	SALL1	OMIM:107480
HP:0004288	Pseudoepiphyses of hand bones	25839	COG4	OMIM:618150
HP:0004288	Pseudoepiphyses of hand bones	5116	PCNT	OMIM:210720
HP:0004288	Pseudoepiphyses of hand bones	6197	RPS6KA3	ORPHA:192
HP:0004288	Pseudoepiphyses of hand bones	53834	FGFRL1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	1487	CTBP1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	3954	LETM1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	7468	NSD2	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	10815	CPLX1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	8200	GDF5	ORPHA:93384
HP:0004288	Pseudoepiphyses of hand bones	8200	GDF5	OMIM:113100
HP:0004288	Pseudoepiphyses of hand bones	658	BMPR1B	ORPHA:93384
HP:0004288	Pseudoepiphyses of hand bones	3756	KCNH1	OMIM:611816
HP:0004288	Pseudoepiphyses of hand bones	4883	NPR3	OMIM:619543
HP:0004288	Pseudoepiphyses of hand bones	51715	RAB23	OMIM:201000
HP:0004289	Sclerotic foci in hand bones	23592	LEMD3	ORPHA:166119
HP:0030139	Excessive bleeding after a venipuncture	388552	BLOC1S3	OMIM:614077
HP:0030138	Excessive bleeding from superficial cuts	3674	ITGA2B	OMIM:273800
HP:0030138	Excessive bleeding from superficial cuts	388552	BLOC1S3	OMIM:614077
HP:0030138	Excessive bleeding from superficial cuts	2147	F2	ORPHA:325
HP:0030138	Excessive bleeding from superficial cuts	2048	EPHB2	OMIM:618462
HP:0030137	Prolonged bleeding following circumcision	2165	F13B	ORPHA:331
HP:0030137	Prolonged bleeding following circumcision	2162	F13A1	ORPHA:331
HP:0030137	Prolonged bleeding following circumcision	2157	F8	ORPHA:169802
HP:0030137	Prolonged bleeding following circumcision	3674	ITGA2B	ORPHA:849
HP:0030137	Prolonged bleeding following circumcision	3690	ITGB3	ORPHA:849
HP:0030137	Prolonged bleeding following circumcision	2243	FGA	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	2244	FGB	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	2266	FGG	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	9939	RBM8A	OMIM:274000
HP:0030137	Prolonged bleeding following circumcision	2147	F2	ORPHA:325
HP:0030137	Prolonged bleeding following circumcision	3998	LMAN1	ORPHA:35909
HP:0030137	Prolonged bleeding following circumcision	90411	MCFD2	ORPHA:35909
HP:0030137	Prolonged bleeding following circumcision	2153	F5	ORPHA:326
HP:0030140	Oral cavity bleeding	2165	F13B	ORPHA:331
HP:0030140	Oral cavity bleeding	2162	F13A1	ORPHA:331
HP:0030140	Oral cavity bleeding	9493	KIF23	ORPHA:98870
HP:0030140	Oral cavity bleeding	29127	RACGAP1	ORPHA:98870
HP:0030140	Oral cavity bleeding	6774	STAT3	ORPHA:520
HP:0030140	Oral cavity bleeding	5371	PML	ORPHA:520
HP:0030140	Oral cavity bleeding	5914	RARA	ORPHA:520
HP:0030140	Oral cavity bleeding	359948	IRF2BP2	ORPHA:520
HP:0030140	Oral cavity bleeding	81608	FIP1L1	ORPHA:520
HP:0030140	Oral cavity bleeding	4869	NPM1	ORPHA:520
HP:0030140	Oral cavity bleeding	5573	PRKAR1A	ORPHA:520
HP:0030140	Oral cavity bleeding	54880	BCOR	ORPHA:520
HP:0030140	Oral cavity bleeding	64859	NABP1	ORPHA:520
HP:0030140	Oral cavity bleeding	6777	STAT5B	ORPHA:520
HP:0030140	Oral cavity bleeding	4926	NUMA1	ORPHA:520
HP:0030140	Oral cavity bleeding	7704	ZBTB16	ORPHA:520
HP:0030140	Oral cavity bleeding	79718	TBL1XR1	ORPHA:520
HP:0030140	Oral cavity bleeding	2157	F8	ORPHA:169802
HP:0030140	Oral cavity bleeding	2159	F10	ORPHA:328
HP:0030140	Oral cavity bleeding	2147	F2	ORPHA:325
HP:0030140	Oral cavity bleeding	2153	F5	ORPHA:326
HP:0004295	Abnormal gastric mucosa morphology	4790	NFKB1	OMIM:616576
HP:0004295	Abnormal gastric mucosa morphology	64135	IFIH1	OMIM:615846
HP:0004295	Abnormal gastric mucosa morphology	987	LRBA	OMIM:614700
HP:0004295	Abnormal gastric mucosa morphology	326	AIRE	OMIM:240300
HP:0004295	Abnormal gastric mucosa morphology	50619	DEF6	OMIM:619573
HP:0004295	Abnormal gastric mucosa morphology	1493	CTLA4	OMIM:616100
HP:0004295	Abnormal gastric mucosa morphology	999	CDH1	OMIM:137215
HP:0004295	Abnormal gastric mucosa morphology	493856	CISD2	OMIM:604928
HP:0004295	Abnormal gastric mucosa morphology	493856	CISD2	ORPHA:3463
HP:0004295	Abnormal gastric mucosa morphology	7466	WFS1	ORPHA:3463
HP:0004295	Abnormal gastric mucosa morphology	57492	ARID1B	OMIM:135900
HP:0004295	Abnormal gastric mucosa morphology	2629	GBA1	ORPHA:2072
HP:0004295	Abnormal gastric mucosa morphology	5321	PLA2G4A	OMIM:618372
HP:0004295	Abnormal gastric mucosa morphology	1244	ABCC2	ORPHA:234
HP:0004295	Abnormal gastric mucosa morphology	6804	STX1A	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	7461	CLIP2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	84277	DNAJC30	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	8468	FKBP6	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	5982	RFC2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	2969	GTF2I	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	3984	LIMK1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	9569	GTF2IRD1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	155382	VPS37D	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	155368	METTL27	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	114049	BUD23	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	7458	EIF4H	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	84163	GTF2IRD2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	9275	BCL7B	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	26608	TBL2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	653361	NCF1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	135886	TMEM270	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	51085	MLXIPL	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	9031	BAZ1B	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	2006	ELN	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	3930	LBR	ORPHA:779
HP:0004295	Abnormal gastric mucosa morphology	2000	ELF4	OMIM:301074
HP:0004295	Abnormal gastric mucosa morphology	10526	IPO8	OMIM:619472
HP:0004295	Abnormal gastric mucosa morphology	3514	IGKC	ORPHA:183675
HP:0004295	Abnormal gastric mucosa morphology	3501	IGHG2	ORPHA:183675
HP:0004295	Abnormal gastric mucosa morphology	54914	FOCAD	OMIM:619991
HP:0004295	Abnormal gastric mucosa morphology	9652	SKIC3	ORPHA:84064
HP:0004295	Abnormal gastric mucosa morphology	6499	SKIC2	ORPHA:84064
HP:0004295	Abnormal gastric mucosa morphology	6850	SYK	OMIM:619381
HP:0004295	Abnormal gastric mucosa morphology	50943	FOXP3	ORPHA:37042
HP:0004295	Abnormal gastric mucosa morphology	355	FAS	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	356	FASLG	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	5580	PRKCD	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	843	CASP10	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	10125	RASGRP1	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	8737	RIPK1	OMIM:618108
HP:0004295	Abnormal gastric mucosa morphology	22900	CARD8	OMIM:619079
HP:0004296	Abnormal gastrointestinal vascular morphology	94	ACVRL1	OMIM:600376
HP:0004296	Abnormal gastrointestinal vascular morphology	2022	ENG	OMIM:187300
HP:0004296	Abnormal gastrointestinal vascular morphology	7450	VWF	OMIM:193400
HP:0004296	Abnormal gastrointestinal vascular morphology	80169	CTC1	OMIM:612199
HP:0004296	Abnormal gastrointestinal vascular morphology	11146	GLMN	ORPHA:83454
HP:0004297	Abnormality of the biliary system	3561	IL2RG	ORPHA:276
HP:0004297	Abnormality of the biliary system	229	ALDOB	OMIM:229600
HP:0004297	Abnormality of the biliary system	229	ALDOB	ORPHA:469
HP:0004297	Abnormality of the biliary system	55532	SLC30A10	ORPHA:309854
HP:0004297	Abnormality of the biliary system	3783	KCNN4	OMIM:616689
HP:0004297	Abnormality of the biliary system	8573	CASK	OMIM:300908
HP:0004297	Abnormality of the biliary system	2539	G6PD	OMIM:300908
HP:0004297	Abnormality of the biliary system	3048	HBG2	OMIM:613977
HP:0004297	Abnormality of the biliary system	2038	EPB42	ORPHA:822
HP:0004297	Abnormality of the biliary system	2038	EPB42	OMIM:612690
HP:0004297	Abnormality of the biliary system	6521	SLC4A1	ORPHA:822
HP:0004297	Abnormality of the biliary system	6521	SLC4A1	OMIM:612653
HP:0004297	Abnormality of the biliary system	6710	SPTB	ORPHA:822
HP:0004297	Abnormality of the biliary system	6710	SPTB	ORPHA:288
HP:0004297	Abnormality of the biliary system	6710	SPTB	OMIM:616649
HP:0004297	Abnormality of the biliary system	6708	SPTA1	ORPHA:822
HP:0004297	Abnormality of the biliary system	6708	SPTA1	ORPHA:288
HP:0004297	Abnormality of the biliary system	286	ANK1	ORPHA:822
HP:0004297	Abnormality of the biliary system	286	ANK1	OMIM:182900
HP:0004297	Abnormality of the biliary system	54658	UGT1A1	OMIM:143500
HP:0004297	Abnormality of the biliary system	54658	UGT1A1	OMIM:237900
HP:0004297	Abnormality of the biliary system	54658	UGT1A1	OMIM:606785
HP:0004297	Abnormality of the biliary system	54658	UGT1A1	OMIM:218800
HP:0004297	Abnormality of the biliary system	6005	RHAG	OMIM:185000
HP:0004297	Abnormality of the biliary system	6005	RHAG	ORPHA:71275
HP:0004297	Abnormality of the biliary system	6005	RHAG	OMIM:268150
HP:0004297	Abnormality of the biliary system	55687	TRMU	OMIM:613070
HP:0004297	Abnormality of the biliary system	60561	RINT1	OMIM:618641
HP:0004297	Abnormality of the biliary system	11232	POLG2	OMIM:618528
HP:0004297	Abnormality of the biliary system	8942	KYNU	OMIM:236800
HP:0004297	Abnormality of the biliary system	28234	SLCO1B3	OMIM:237450
HP:0004297	Abnormality of the biliary system	28234	SLCO1B3	ORPHA:3111
HP:0004297	Abnormality of the biliary system	10599	SLCO1B1	OMIM:237450
HP:0004297	Abnormality of the biliary system	10599	SLCO1B1	ORPHA:3111
HP:0004297	Abnormality of the biliary system	1716	DGUOK	OMIM:251880
HP:0004297	Abnormality of the biliary system	2035	EPB41	ORPHA:288
HP:0004297	Abnormality of the biliary system	2035	EPB41	OMIM:611804
HP:0004297	Abnormality of the biliary system	2995	GYPC	ORPHA:288
HP:0004297	Abnormality of the biliary system	1130	LYST	ORPHA:167
HP:0004297	Abnormality of the biliary system	1130	LYST	OMIM:214500
HP:0004297	Abnormality of the biliary system	5313	PKLR	OMIM:266200
HP:0004297	Abnormality of the biliary system	63894	VIPAS39	OMIM:613404
HP:0004297	Abnormality of the biliary system	4645	MYO5B	OMIM:619868
HP:0004297	Abnormality of the biliary system	2313	FLI1	ORPHA:370348
HP:0004297	Abnormality of the biliary system	1244	ABCC2	ORPHA:234
HP:0004297	Abnormality of the biliary system	1244	ABCC2	OMIM:237500
HP:0004297	Abnormality of the biliary system	51594	NBAS	OMIM:616483
HP:0004297	Abnormality of the biliary system	5311	PKD2	OMIM:613095
HP:0004297	Abnormality of the biliary system	10068	IL18BP	OMIM:618549
HP:0004297	Abnormality of the biliary system	540	ATP7B	ORPHA:905
HP:0004297	Abnormality of the biliary system	540	ATP7B	OMIM:277900
HP:0004297	Abnormality of the biliary system	5265	SERPINA1	ORPHA:60
HP:0004297	Abnormality of the biliary system	5551	PRF1	OMIM:603553
HP:0004297	Abnormality of the biliary system	5551	PRF1	ORPHA:540
HP:0004297	Abnormality of the biliary system	8676	STX11	OMIM:603552
HP:0004297	Abnormality of the biliary system	8676	STX11	ORPHA:540
HP:0004297	Abnormality of the biliary system	9095	TBX19	OMIM:201400
HP:0004297	Abnormality of the biliary system	9971	NR1H4	ORPHA:69665
HP:0004297	Abnormality of the biliary system	9971	NR1H4	OMIM:617049
HP:0004297	Abnormality of the biliary system	55670	PEX26	OMIM:614872
HP:0004297	Abnormality of the biliary system	55670	PEX26	ORPHA:912
HP:0004297	Abnormality of the biliary system	9409	PEX16	OMIM:614876
HP:0004297	Abnormality of the biliary system	9409	PEX16	ORPHA:912
HP:0004297	Abnormality of the biliary system	2729	GCLC	ORPHA:33574
HP:0004297	Abnormality of the biliary system	91949	COG7	ORPHA:79333
HP:0004297	Abnormality of the biliary system	91949	COG7	OMIM:608779
HP:0004297	Abnormality of the biliary system	811	CALR	ORPHA:131
HP:0004297	Abnormality of the biliary system	3717	JAK2	ORPHA:131
HP:0004297	Abnormality of the biliary system	2153	F5	ORPHA:131
HP:0004297	Abnormality of the biliary system	11330	CTRC	ORPHA:103918
HP:0004297	Abnormality of the biliary system	11330	CTRC	ORPHA:676
HP:0004297	Abnormality of the biliary system	6690	SPINK1	ORPHA:103918
HP:0004297	Abnormality of the biliary system	6690	SPINK1	ORPHA:676
HP:0004297	Abnormality of the biliary system	9652	SKIC3	OMIM:222470
HP:0004297	Abnormality of the biliary system	5213	PFKM	OMIM:232800
HP:0004297	Abnormality of the biliary system	54532	USP53	OMIM:619658
HP:0004297	Abnormality of the biliary system	29929	ALG6	ORPHA:79320
HP:0004297	Abnormality of the biliary system	5825	ABCD3	OMIM:616278
HP:0004297	Abnormality of the biliary system	27429	HTRA2	OMIM:617248
HP:0004297	Abnormality of the biliary system	5824	PEX19	ORPHA:912
HP:0004297	Abnormality of the biliary system	8504	PEX3	ORPHA:912
HP:0004297	Abnormality of the biliary system	8799	PEX11B	ORPHA:912
HP:0004297	Abnormality of the biliary system	5190	PEX6	ORPHA:912
HP:0004297	Abnormality of the biliary system	5193	PEX12	ORPHA:912
HP:0004297	Abnormality of the biliary system	5194	PEX13	ORPHA:912
HP:0004297	Abnormality of the biliary system	5192	PEX10	ORPHA:912
HP:0004297	Abnormality of the biliary system	6006	RHCE	ORPHA:71275
HP:0004297	Abnormality of the biliary system	6007	RHD	ORPHA:71275
HP:0004297	Abnormality of the biliary system	10159	ATP6AP2	OMIM:301045
HP:0004297	Abnormality of the biliary system	3155	HMGCL	ORPHA:20
HP:0004297	Abnormality of the biliary system	7167	TPI1	OMIM:615512
HP:0004297	Abnormality of the biliary system	763	CA5A	OMIM:615751
HP:0004297	Abnormality of the biliary system	84529	CDIN1	OMIM:615631
HP:0004297	Abnormality of the biliary system	1798	DPAGT1	OMIM:608093
HP:0004297	Abnormality of the biliary system	4023	LPL	OMIM:238600
HP:0004297	Abnormality of the biliary system	9780	PIEZO1	OMIM:194380
HP:0004297	Abnormality of the biliary system	201294	UNC13D	ORPHA:540
HP:0004297	Abnormality of the biliary system	6813	STXBP2	ORPHA:540
HP:0004297	Abnormality of the biliary system	11093	ADAMTS13	OMIM:274150
HP:0004297	Abnormality of the biliary system	6513	SLC2A1	OMIM:608885
HP:0004297	Abnormality of the biliary system	6513	SLC2A1	ORPHA:168577
HP:0004297	Abnormality of the biliary system	7849	PAX8	ORPHA:95720
HP:0004297	Abnormality of the biliary system	7849	PAX8	ORPHA:95712
HP:0004297	Abnormality of the biliary system	7253	TSHR	ORPHA:95720
HP:0004297	Abnormality of the biliary system	5172	SLC26A4	ORPHA:95720
HP:0004297	Abnormality of the biliary system	2592	GALT	ORPHA:79239
HP:0004297	Abnormality of the biliary system	51218	GLRX5	OMIM:616860
HP:0004297	Abnormality of the biliary system	50619	DEF6	OMIM:619573
HP:0004297	Abnormality of the biliary system	7019	TFAM	OMIM:617156
HP:0004297	Abnormality of the biliary system	8260	NAA10	OMIM:300855
HP:0004297	Abnormality of the biliary system	4358	MPV17	OMIM:256810
HP:0004297	Abnormality of the biliary system	3431	SP110	ORPHA:79124
HP:0004297	Abnormality of the biliary system	1482	NKX2-5	ORPHA:95712
HP:0004297	Abnormality of the biliary system	5277	PIGA	ORPHA:447
HP:0004297	Abnormality of the biliary system	26276	VPS33B	OMIM:208085
HP:0004297	Abnormality of the biliary system	26276	VPS33B	OMIM:620010
HP:0004297	Abnormality of the biliary system	7289	TULP3	OMIM:619902
HP:0004297	Abnormality of the biliary system	285282	RABL3	ORPHA:1333
HP:0004297	Abnormality of the biliary system	7157	TP53	ORPHA:1333
HP:0004297	Abnormality of the biliary system	3845	KRAS	ORPHA:1333
HP:0004297	Abnormality of the biliary system	1029	CDKN2A	ORPHA:1333
HP:0004297	Abnormality of the biliary system	79728	PALB2	ORPHA:1333
HP:0004297	Abnormality of the biliary system	4089	SMAD4	ORPHA:1333
HP:0004297	Abnormality of the biliary system	23022	PALLD	ORPHA:1333
HP:0004297	Abnormality of the biliary system	84701	COX4I2	OMIM:612714
HP:0004297	Abnormality of the biliary system	9493	KIF23	OMIM:105600
HP:0004297	Abnormality of the biliary system	5873	RAB27A	ORPHA:79477
HP:0004297	Abnormality of the biliary system	5644	PRSS1	ORPHA:676
HP:0004297	Abnormality of the biliary system	5645	PRSS2	ORPHA:676
HP:0004297	Abnormality of the biliary system	846	CASR	ORPHA:676
HP:0004297	Abnormality of the biliary system	1357	CPA1	ORPHA:676
HP:0004297	Abnormality of the biliary system	538	ATP7A	ORPHA:198
HP:0004297	Abnormality of the biliary system	570	BAAT	OMIM:619232
HP:0004297	Abnormality of the biliary system	6711	SPTBN1	OMIM:619475
HP:0004297	Abnormality of the biliary system	6928	HNF1B	ORPHA:93111
HP:0004297	Abnormality of the biliary system	286410	ATP11C	OMIM:301015
HP:0004297	Abnormality of the biliary system	10483	SEC23B	OMIM:224100
HP:0004297	Abnormality of the biliary system	51124	IER3IP1	OMIM:614231
HP:0004297	Abnormality of the biliary system	3098	HK1	OMIM:235700
HP:0004297	Abnormality of the biliary system	226	ALDOA	OMIM:611881
HP:0004297	Abnormality of the biliary system	100506658	OCLN	OMIM:251290
HP:0004297	Abnormality of the biliary system	5573	PRKAR1A	ORPHA:615
HP:0004297	Abnormality of the biliary system	199221	DZIP1L	ORPHA:731
HP:0004297	Abnormality of the biliary system	2215	FCGR3B	ORPHA:464370
HP:0004297	Abnormality of the biliary system	10577	NPC2	OMIM:607625
HP:0004297	Abnormality of the biliary system	7390	UROS	OMIM:263700
HP:0004297	Abnormality of the biliary system	5449	POU1F1	OMIM:613038
HP:0004297	Abnormality of the biliary system	25974	MMACHC	ORPHA:79282
HP:0004297	Abnormality of the biliary system	1371	CPOX	OMIM:121300
HP:0004297	Abnormality of the biliary system	1719	DHFR	OMIM:613839
HP:0004297	Abnormality of the biliary system	9451	EIF2AK3	ORPHA:1667
HP:0004297	Abnormality of the biliary system	37	ACADVL	ORPHA:26793
HP:0004297	Abnormality of the biliary system	2108	ETFA	OMIM:231680
HP:0004297	Abnormality of the biliary system	2109	ETFB	OMIM:231680
HP:0004297	Abnormality of the biliary system	2110	ETFDH	OMIM:231680
HP:0004297	Abnormality of the biliary system	3988	LIPA	ORPHA:75234
HP:0004297	Abnormality of the biliary system	2582	GALE	OMIM:230350
HP:0004297	Abnormality of the biliary system	157570	ESCO2	OMIM:268300
HP:0004297	Abnormality of the biliary system	84100	ARL6	OMIM:209900
HP:0004297	Abnormality of the biliary system	79140	CCDC28B	OMIM:209900
HP:0004297	Abnormality of the biliary system	582	BBS1	OMIM:209900
HP:0004297	Abnormality of the biliary system	53834	FGFRL1	OMIM:194190
HP:0004297	Abnormality of the biliary system	27183	VPS4A	OMIM:619273
HP:0004297	Abnormality of the biliary system	2235	FECH	OMIM:177000
HP:0004297	Abnormality of the biliary system	2235	FECH	ORPHA:79278
HP:0004297	Abnormality of the biliary system	57003	CCDC47	OMIM:618268
HP:0004297	Abnormality of the biliary system	212	ALAS2	OMIM:300752
HP:0004297	Abnormality of the biliary system	6804	STX1A	ORPHA:904
HP:0004297	Abnormality of the biliary system	7461	CLIP2	ORPHA:904
HP:0004297	Abnormality of the biliary system	84277	DNAJC30	ORPHA:904
HP:0004297	Abnormality of the biliary system	8468	FKBP6	ORPHA:904
HP:0004297	Abnormality of the biliary system	5982	RFC2	ORPHA:904
HP:0004297	Abnormality of the biliary system	2969	GTF2I	ORPHA:904
HP:0004297	Abnormality of the biliary system	3984	LIMK1	ORPHA:904
HP:0004297	Abnormality of the biliary system	9569	GTF2IRD1	ORPHA:904
HP:0004297	Abnormality of the biliary system	155382	VPS37D	ORPHA:904
HP:0004297	Abnormality of the biliary system	155368	METTL27	ORPHA:904
HP:0004297	Abnormality of the biliary system	114049	BUD23	ORPHA:904
HP:0004297	Abnormality of the biliary system	7458	EIF4H	ORPHA:904
HP:0004297	Abnormality of the biliary system	84163	GTF2IRD2	ORPHA:904
HP:0004297	Abnormality of the biliary system	9275	BCL7B	ORPHA:904
HP:0004297	Abnormality of the biliary system	26608	TBL2	ORPHA:904
HP:0004297	Abnormality of the biliary system	653361	NCF1	ORPHA:904
HP:0004297	Abnormality of the biliary system	135886	TMEM270	ORPHA:904
HP:0004297	Abnormality of the biliary system	51085	MLXIPL	ORPHA:904
HP:0004297	Abnormality of the biliary system	9031	BAZ1B	ORPHA:904
HP:0004297	Abnormality of the biliary system	2006	ELN	ORPHA:904
HP:0004297	Abnormality of the biliary system	6340	SCNN1G	ORPHA:171876
HP:0004297	Abnormality of the biliary system	6337	SCNN1A	ORPHA:171876
HP:0004297	Abnormality of the biliary system	6338	SCNN1B	ORPHA:171876
HP:0004297	Abnormality of the biliary system	2642	GCGR	ORPHA:438274
HP:0004297	Abnormality of the biliary system	1760	DMPK	OMIM:160900
HP:0004297	Abnormality of the biliary system	2658	GDF2	ORPHA:774
HP:0004297	Abnormality of the biliary system	94	ACVRL1	ORPHA:774
HP:0004297	Abnormality of the biliary system	2022	ENG	ORPHA:774
HP:0004297	Abnormality of the biliary system	7030	TFE3	OMIM:301066
HP:0004297	Abnormality of the biliary system	8242	KDM5C	OMIM:300534
HP:0004297	Abnormality of the biliary system	326	AIRE	OMIM:240300
HP:0004297	Abnormality of the biliary system	81857	MED25	ORPHA:464738
HP:0004297	Abnormality of the biliary system	10020	GNE	ORPHA:3166
HP:0004297	Abnormality of the biliary system	1312	COMT	ORPHA:567
HP:0004297	Abnormality of the biliary system	221037	JMJD1C	ORPHA:567
HP:0004297	Abnormality of the biliary system	2812	GP1BB	ORPHA:567
HP:0004297	Abnormality of the biliary system	6239	RREB1	ORPHA:567
HP:0004297	Abnormality of the biliary system	6899	TBX1	ORPHA:567
HP:0004297	Abnormality of the biliary system	6899	TBX1	OMIM:188400
HP:0004297	Abnormality of the biliary system	7290	HIRA	ORPHA:567
HP:0004297	Abnormality of the biliary system	9632	SEC24C	ORPHA:567
HP:0004297	Abnormality of the biliary system	7353	UFD1	ORPHA:567
HP:0004297	Abnormality of the biliary system	421	ARVCF	ORPHA:567
HP:0004297	Abnormality of the biliary system	171023	ASXL1	ORPHA:97297
HP:0004297	Abnormality of the biliary system	7386	UQCRFS1	OMIM:618775
HP:0004297	Abnormality of the biliary system	64241	ABCG8	OMIM:611465
HP:0004297	Abnormality of the biliary system	57104	PNPLA2	ORPHA:98908
HP:0004297	Abnormality of the biliary system	4204	MECP2	ORPHA:778
HP:0004297	Abnormality of the biliary system	5122	PCSK1	ORPHA:71528
HP:0004297	Abnormality of the biliary system	222546	RFX6	OMIM:615710
HP:0004297	Abnormality of the biliary system	26160	IFT172	OMIM:615630
HP:0004297	Abnormality of the biliary system	85476	GFM1	OMIM:609060
HP:0004297	Abnormality of the biliary system	5443	POMC	ORPHA:71526
HP:0004297	Abnormality of the biliary system	5443	POMC	OMIM:609734
HP:0004297	Abnormality of the biliary system	3032	HADHB	ORPHA:746
HP:0004297	Abnormality of the biliary system	374879	ZNF699	OMIM:619488
HP:0004297	Abnormality of the biliary system	4141	MARS1	OMIM:615486
HP:0004297	Abnormality of the biliary system	6288	SAA1	ORPHA:85445
HP:0004297	Abnormality of the biliary system	644	BLVRA	OMIM:614156
HP:0004297	Abnormality of the biliary system	169792	GLIS3	OMIM:610199
HP:0004297	Abnormality of the biliary system	182	JAG1	OMIM:118450
HP:0004297	Abnormality of the biliary system	10551	AGR2	OMIM:620233
HP:0004297	Abnormality of the biliary system	537	ATP6AP1	OMIM:300972
HP:0004297	Abnormality of the biliary system	3643	INSR	OMIM:246200
HP:0004297	Abnormality of the biliary system	10616	RBCK1	OMIM:615895
HP:0004297	Abnormality of the biliary system	130589	GALM	ORPHA:570422
HP:0004297	Abnormality of the biliary system	284086	NEK8	OMIM:615415
HP:0004297	Abnormality of the biliary system	26146	TRAF3IP1	OMIM:616629
HP:0004297	Abnormality of the biliary system	124454	EARS2	OMIM:614924
HP:0004297	Abnormality of the biliary system	2778	GNAS	ORPHA:562
HP:0004297	Abnormality of the biliary system	203286	ANKS6	OMIM:615382
HP:0004297	Abnormality of the biliary system	57511	COG6	OMIM:614576
HP:0004297	Abnormality of the biliary system	2783	GNB2	OMIM:619503
HP:0004297	Abnormality of the biliary system	79053	ALG8	OMIM:608104
HP:0004297	Abnormality of the biliary system	4069	LYZ	OMIM:105200
HP:0004297	Abnormality of the biliary system	2243	FGA	OMIM:105200
HP:0004297	Abnormality of the biliary system	335	APOA1	OMIM:105200
HP:0004297	Abnormality of the biliary system	567	B2M	OMIM:105200
HP:0004297	Abnormality of the biliary system	5828	PEX2	OMIM:614866
HP:0004297	Abnormality of the biliary system	5830	PEX5	OMIM:214110
HP:0004297	Abnormality of the biliary system	5189	PEX1	OMIM:214100
HP:0004297	Abnormality of the biliary system	2271	FH	OMIM:606812
HP:0004297	Abnormality of the biliary system	80270	HSD3B7	OMIM:607765
HP:0004297	Abnormality of the biliary system	3376	IARS1	OMIM:617093
HP:0004297	Abnormality of the biliary system	164656	TMPRSS6	ORPHA:209981
HP:0004297	Abnormality of the biliary system	8647	ABCB11	OMIM:601847
HP:0004297	Abnormality of the biliary system	8647	ABCB11	OMIM:605479
HP:0004297	Abnormality of the biliary system	54914	FOCAD	OMIM:619991
HP:0004297	Abnormality of the biliary system	6718	AKR1D1	OMIM:235555
HP:0004297	Abnormality of the biliary system	9414	TJP2	OMIM:615878
HP:0004297	Abnormality of the biliary system	5236	PGM1	OMIM:614921
HP:0004297	Abnormality of the biliary system	5195	PEX14	OMIM:614887
HP:0004297	Abnormality of the biliary system	23600	AMACR	OMIM:214950
HP:0004297	Abnormality of the biliary system	5314	PKHD1	ORPHA:53035
HP:0004297	Abnormality of the biliary system	10165	SLC25A13	OMIM:605814
HP:0004297	Abnormality of the biliary system	197131	UBR1	OMIM:243800
HP:0004297	Abnormality of the biliary system	55610	VPS50	OMIM:619685
HP:0004297	Abnormality of the biliary system	6514	SLC2A2	OMIM:227810
HP:0004297	Abnormality of the biliary system	5205	ATP8B1	OMIM:147480
HP:0004297	Abnormality of the biliary system	162	AP1B1	ORPHA:171851
HP:0004297	Abnormality of the biliary system	1174	AP1S1	ORPHA:171851
HP:0004297	Abnormality of the biliary system	200931	SLC51A	OMIM:619484
HP:0004297	Abnormality of the biliary system	84936	ZFYVE19	OMIM:619849
HP:0004297	Abnormality of the biliary system	9968	MED12	OMIM:301068
HP:0004297	Abnormality of the biliary system	9076	CLDN1	OMIM:607626
HP:0004297	Abnormality of the biliary system	51473	DCDC2	OMIM:617394
HP:0004297	Abnormality of the biliary system	51473	DCDC2	OMIM:616217
HP:0004297	Abnormality of the biliary system	79989	IFT56	OMIM:619534
HP:0004297	Abnormality of the biliary system	57545	CC2D2A	OMIM:612284
HP:0004297	Abnormality of the biliary system	125988	MICOS13	OMIM:618329
HP:0004297	Abnormality of the biliary system	80184	CEP290	OMIM:611134
HP:0004297	Abnormality of the biliary system	57539	WDR35	OMIM:613610
HP:0004297	Abnormality of the biliary system	3295	HSD17B4	OMIM:261515
HP:0004297	Abnormality of the biliary system	91147	TMEM67	OMIM:610688
HP:0004297	Abnormality of the biliary system	91147	TMEM67	OMIM:607361
HP:0004297	Abnormality of the biliary system	9420	CYP7B1	OMIM:613812
HP:0004297	Abnormality of the biliary system	9420	CYP7B1	ORPHA:79302
HP:0004297	Abnormality of the biliary system	10056	FARSB	OMIM:613658
HP:0004297	Abnormality of the biliary system	5428	POLG	OMIM:203700
HP:0004297	Abnormality of the biliary system	27031	NPHP3	OMIM:267010
HP:0004297	Abnormality of the biliary system	27031	NPHP3	OMIM:208540
HP:0004297	Abnormality of the biliary system	54903	MKS1	OMIM:249000
HP:0004297	Abnormality of the biliary system	113220	KIF12	OMIM:619662
HP:0004297	Abnormality of the biliary system	23322	RPGRIP1L	OMIM:611561
HP:0004297	Abnormality of the biliary system	5261	PHKG2	OMIM:613027
HP:0004297	Abnormality of the biliary system	2542	SLC37A4	OMIM:619525
HP:0004297	Abnormality of the biliary system	51259	TMEM216	OMIM:603194
HP:0004297	Abnormality of the biliary system	1717	DHCR7	OMIM:270400
HP:0004297	Abnormality of the biliary system	3030	HADHA	ORPHA:5
HP:0004297	Abnormality of the biliary system	4072	EPCAM	ORPHA:92050
HP:0004297	Abnormality of the biliary system	105371045	PERCC1	ORPHA:92050
HP:0004297	Abnormality of the biliary system	50674	NEUROG3	ORPHA:83620
HP:0004297	Abnormality of the biliary system	8565	YARS1	OMIM:619418
HP:0004297	Abnormality of the biliary system	1777	DNASE2	OMIM:619858
HP:0004297	Abnormality of the biliary system	23729	SHPK	ORPHA:440713
HP:0004297	Abnormality of the biliary system	84317	CCDC115	OMIM:616828
HP:0004297	Abnormality of the biliary system	4853	NOTCH2	OMIM:610205
HP:0004297	Abnormality of the biliary system	2212	FCGR2A	OMIM:219700
HP:0004297	Abnormality of the biliary system	7040	TGFB1	OMIM:219700
HP:0004297	Abnormality of the biliary system	1080	CFTR	OMIM:219700
HP:0004297	Abnormality of the biliary system	3594	IL12RB1	ORPHA:186
HP:0004297	Abnormality of the biliary system	23534	TNPO3	ORPHA:186
HP:0004297	Abnormality of the biliary system	3592	IL12A	ORPHA:186
HP:0004297	Abnormality of the biliary system	6689	SPIB	ORPHA:186
HP:0004297	Abnormality of the biliary system	5450	POU2AF1	ORPHA:186
HP:0004297	Abnormality of the biliary system	9966	TNFSF15	ORPHA:186
HP:0004297	Abnormality of the biliary system	79258	MMEL1	ORPHA:186
HP:0004297	Abnormality of the biliary system	3663	IRF5	ORPHA:186
HP:0004297	Abnormality of the biliary system	3930	LBR	OMIM:613471
HP:0004297	Abnormality of the biliary system	3875	KRT18	OMIM:215600
HP:0004297	Abnormality of the biliary system	2629	GBA1	ORPHA:77259
HP:0004297	Abnormality of the biliary system	950	SCARB2	ORPHA:77259
HP:0004297	Abnormality of the biliary system	9361	LONP1	ORPHA:1458
HP:0004297	Abnormality of the biliary system	56623	INPP5E	ORPHA:1454
HP:0004297	Abnormality of the biliary system	26123	TCTN3	OMIM:614815
HP:0004297	Abnormality of the biliary system	10815	CPLX1	ORPHA:280
HP:0004297	Abnormality of the biliary system	54872	PIGG	ORPHA:280
HP:0004297	Abnormality of the biliary system	7469	NELFA	ORPHA:280
HP:0004297	Abnormality of the biliary system	1487	CTBP1	ORPHA:280
HP:0004297	Abnormality of the biliary system	3954	LETM1	ORPHA:280
HP:0004297	Abnormality of the biliary system	7468	NSD2	ORPHA:280
HP:0004297	Abnormality of the biliary system	2517	FUCA1	ORPHA:349
HP:0004297	Abnormality of the biliary system	3239	HOXD13	ORPHA:887
HP:0004297	Abnormality of the biliary system	145173	B3GLCT	OMIM:261540
HP:0004297	Abnormality of the biliary system	6309	SC5D	OMIM:607330
HP:0004297	Abnormality of the biliary system	7547	ZIC3	OMIM:306955
HP:0004297	Abnormality of the biliary system	2072	ERCC4	OMIM:615272
HP:0004297	Abnormality of the biliary system	55764	IFT122	OMIM:218330
HP:0004297	Abnormality of the biliary system	80776	B9D2	OMIM:614175
HP:0004297	Abnormality of the biliary system	55788	LMBRD1	ORPHA:79284
HP:0004297	Abnormality of the biliary system	427	ASAH1	ORPHA:333
HP:0004297	Abnormality of the biliary system	10664	CTCF	ORPHA:363611
HP:0004297	Abnormality of the biliary system	23446	SLC44A1	OMIM:618868
HP:0004297	Abnormality of the biliary system	5626	PROP1	ORPHA:226307
HP:0004297	Abnormality of the biliary system	89884	LHX4	ORPHA:226307
HP:0004297	Abnormality of the biliary system	8022	LHX3	ORPHA:226307
HP:0004297	Abnormality of the biliary system	8820	HESX1	ORPHA:226307
HP:0004297	Abnormality of the biliary system	1593	CYP27A1	ORPHA:909
HP:0004297	Abnormality of the biliary system	100151683	RNU4ATAC	OMIM:210710
HP:0004297	Abnormality of the biliary system	2584	GALK1	OMIM:230200
HP:0004297	Abnormality of the biliary system	8405	SPOP	OMIM:618828
HP:0004297	Abnormality of the biliary system	8085	KMT2D	OMIM:620186
HP:0004297	Abnormality of the biliary system	6609	SMPD1	OMIM:257200
HP:0004297	Abnormality of the biliary system	64324	NSD1	ORPHA:821
HP:0004297	Abnormality of the biliary system	64324	NSD1	OMIM:117550
HP:0004297	Abnormality of the biliary system	29072	SETD2	ORPHA:821
HP:0004297	Abnormality of the biliary system	10297	APC2	ORPHA:821
HP:0004297	Abnormality of the biliary system	123264	SLC51B	OMIM:619481
HP:0004297	Abnormality of the biliary system	5631	PRPS1	ORPHA:423479
HP:0004297	Abnormality of the biliary system	11277	TREX1	OMIM:225750
HP:0004297	Abnormality of the biliary system	11277	TREX1	ORPHA:51
HP:0004297	Abnormality of the biliary system	200894	ARL13B	OMIM:612291
HP:0004297	Abnormality of the biliary system	10525	HYOU1	OMIM:233600
HP:0004297	Abnormality of the biliary system	5184	PEPD	OMIM:170100
HP:0004297	Abnormality of the biliary system	50506	DUOX2	ORPHA:226316
HP:0004297	Abnormality of the biliary system	50506	DUOX2	ORPHA:95716
HP:0004297	Abnormality of the biliary system	55904	KMT2E	OMIM:618512
HP:0004297	Abnormality of the biliary system	25973	PARS2	OMIM:618437
HP:0004297	Abnormality of the biliary system	7252	TSHB	ORPHA:90674
HP:0004297	Abnormality of the biliary system	6554	SLC10A1	OMIM:619256
HP:0004297	Abnormality of the biliary system	405753	DUOXA2	ORPHA:95716
HP:0004297	Abnormality of the biliary system	6528	SLC5A5	ORPHA:95716
HP:0004297	Abnormality of the biliary system	7038	TG	ORPHA:95716
HP:0004297	Abnormality of the biliary system	7173	TPO	ORPHA:95716
HP:0004297	Abnormality of the biliary system	389434	IYD	ORPHA:95716
HP:0004297	Abnormality of the biliary system	4864	NPC1	OMIM:257220
HP:0004297	Abnormality of the biliary system	7201	TRHR	ORPHA:99832
HP:0004297	Abnormality of the biliary system	6567	SLC16A2	ORPHA:59
HP:0004297	Abnormality of the biliary system	2688	GH1	OMIM:262400
HP:0004297	Abnormality of the biliary system	146059	CDAN1	OMIM:224120
HP:0004297	Abnormality of the biliary system	10535	RNASEH2A	ORPHA:51
HP:0004297	Abnormality of the biliary system	84153	RNASEH2C	ORPHA:51
HP:0004297	Abnormality of the biliary system	25939	SAMHD1	ORPHA:51
HP:0004297	Abnormality of the biliary system	79621	RNASEH2B	ORPHA:51
HP:0004297	Abnormality of the biliary system	103	ADAR	ORPHA:51
HP:0004297	Abnormality of the biliary system	100147744	RNU7-1	ORPHA:51
HP:0004297	Abnormality of the biliary system	134353	LSM11	ORPHA:51
HP:0004297	Abnormality of the biliary system	64135	IFIH1	ORPHA:51
HP:0004297	Abnormality of the biliary system	55898	UNC45A	OMIM:619377
HP:0004297	Abnormality of the biliary system	5256	PHKA2	ORPHA:264580
HP:0004297	Abnormality of the biliary system	132	ADK	OMIM:614300
HP:0004297	Abnormality of the biliary system	51134	CEP83	OMIM:615862
HP:0004297	Abnormality of the biliary system	383	ARG1	OMIM:207800
HP:0004297	Abnormality of the biliary system	5836	PYGL	ORPHA:369
HP:0004297	Abnormality of the biliary system	4000	LMNA	ORPHA:363618
HP:0004297	Abnormality of the biliary system	2627	GATA6	OMIM:600001
HP:0004297	Abnormality of the biliary system	2294	FOXF1	ORPHA:210122
HP:0004297	Abnormality of the biliary system	23019	CNOT1	ORPHA:556955
HP:0004297	Abnormality of the biliary system	23019	CNOT1	OMIM:618500
HP:0004297	Abnormality of the biliary system	6651	SON	OMIM:617140
HP:0004297	Abnormality of the biliary system	6651	SON	ORPHA:500150
HP:0004297	Abnormality of the biliary system	27152	INTU	OMIM:617925
HP:0004297	Abnormality of the biliary system	5244	ABCB4	OMIM:600803
HP:0004297	Abnormality of the biliary system	1581	CYP7A1	ORPHA:209902
HP:0004297	Abnormality of the biliary system	3043	HBB	ORPHA:232
HP:0004297	Abnormality of the biliary system	2821	GPI	OMIM:613470
HP:0004297	Abnormality of the biliary system	1027	CDKN1B	ORPHA:276152
HP:0004297	Abnormality of the biliary system	5966	REL	OMIM:619652
HP:0004297	Abnormality of the biliary system	9742	IFT140	OMIM:266920
HP:0004297	Abnormality of the biliary system	4261	CIITA	OMIM:209920
HP:0004297	Abnormality of the biliary system	5994	RFXAP	OMIM:209920
HP:0004297	Abnormality of the biliary system	5993	RFX5	OMIM:209920
HP:0004297	Abnormality of the biliary system	8625	RFXANK	OMIM:209920
HP:0004297	Abnormality of the biliary system	50615	IL21R	OMIM:615207
HP:0004297	Abnormality of the biliary system	26525	IL36RN	OMIM:614204
HP:0004297	Abnormality of the biliary system	83737	ITCH	ORPHA:228426
HP:0004297	Abnormality of the biliary system	617	BCS1L	OMIM:124000
HP:0004297	Abnormality of the biliary system	3514	IGKC	ORPHA:183675
HP:0004297	Abnormality of the biliary system	3501	IGHG2	ORPHA:183675
HP:0004297	Abnormality of the biliary system	654	BMP6	ORPHA:465508
HP:0004297	Abnormality of the biliary system	3077	HFE	ORPHA:465508
HP:0004297	Abnormality of the biliary system	959	CD40LG	OMIM:308230
HP:0004297	Abnormality of the biliary system	57728	WDR19	OMIM:614377
HP:0004297	Abnormality of the biliary system	57728	WDR19	OMIM:616307
HP:0004297	Abnormality of the biliary system	9371	KIF3B	OMIM:618955
HP:0004297	Abnormality of the biliary system	8772	FADD	OMIM:613759
HP:0004297	Abnormality of the biliary system	672	BRCA1	ORPHA:70567
HP:0004297	Abnormality of the biliary system	675	BRCA2	ORPHA:70567
HP:0004297	Abnormality of the biliary system	5774	PTPN3	ORPHA:70567
HP:0004297	Abnormality of the biliary system	6794	STK11	ORPHA:2869
HP:0004297	Abnormality of the biliary system	54894	RNF43	ORPHA:157798
HP:0004297	Abnormality of the biliary system	410	ARSA	ORPHA:309271
HP:0004297	Abnormality of the biliary system	5660	PSAP	ORPHA:309271
HP:0004297	Abnormality of the biliary system	2859	GPR35	ORPHA:171
HP:0004297	Abnormality of the biliary system	10507	SEMA4D	ORPHA:171
HP:0004297	Abnormality of the biliary system	4485	MST1	ORPHA:171
HP:0004297	Abnormality of the biliary system	6925	TCF4	ORPHA:171
HP:0004297	Abnormality of the biliary system	5297	PI4KA	ORPHA:436252
HP:0004297	Abnormality of the biliary system	57217	TTC7A	ORPHA:436252
HP:0004297	Abnormality of the biliary system	11198	SUPT16H	OMIM:619480
HP:0004297	Abnormality of the biliary system	8239	USP9X	ORPHA:480880
HP:0004299	Hernia of the abdominal wall	8036	SHOC2	OMIM:607721
HP:0004299	Hernia of the abdominal wall	23394	ADNP	ORPHA:404448
HP:0004299	Hernia of the abdominal wall	8425	LTBP4	OMIM:613177
HP:0004299	Hernia of the abdominal wall	268	AMH	ORPHA:2856
HP:0004299	Hernia of the abdominal wall	268	AMH	OMIM:261550
HP:0004299	Hernia of the abdominal wall	269	AMHR2	ORPHA:2856
HP:0004299	Hernia of the abdominal wall	269	AMHR2	OMIM:261550
HP:0004299	Hernia of the abdominal wall	81857	MED25	OMIM:616449
HP:0004299	Hernia of the abdominal wall	81857	MED25	ORPHA:464738
HP:0004299	Hernia of the abdominal wall	64220	STRA6	OMIM:601186
HP:0004299	Hernia of the abdominal wall	64412	GZF1	OMIM:617662
HP:0004299	Hernia of the abdominal wall	477	ATP1A2	OMIM:619602
HP:0004299	Hernia of the abdominal wall	129563	DIS3L2	ORPHA:2849
HP:0004299	Hernia of the abdominal wall	79158	GNPTAB	OMIM:252500
HP:0004299	Hernia of the abdominal wall	79158	GNPTAB	ORPHA:576
HP:0004299	Hernia of the abdominal wall	64175	P3H1	OMIM:610915
HP:0004299	Hernia of the abdominal wall	57589	RIC1	OMIM:618761
HP:0004299	Hernia of the abdominal wall	113189	CHST14	ORPHA:2953
HP:0004299	Hernia of the abdominal wall	29940	DSE	ORPHA:2953
HP:0004299	Hernia of the abdominal wall	29940	DSE	OMIM:615539
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	ORPHA:2834
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	OMIM:278250
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	OMIM:219200
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	4853	NOTCH2	OMIM:102500
HP:0004299	Hernia of the abdominal wall	4853	NOTCH2	ORPHA:955
HP:0004299	Hernia of the abdominal wall	3423	IDS	ORPHA:217085
HP:0004299	Hernia of the abdominal wall	3423	IDS	OMIM:309900
HP:0004299	Hernia of the abdominal wall	3423	IDS	ORPHA:217093
HP:0004299	Hernia of the abdominal wall	9968	MED12	ORPHA:93932
HP:0004299	Hernia of the abdominal wall	9968	MED12	OMIM:305450
HP:0004299	Hernia of the abdominal wall	9968	MED12	OMIM:300895
HP:0004299	Hernia of the abdominal wall	1183	CLCN4	ORPHA:485350
HP:0004299	Hernia of the abdominal wall	64359	NXN	ORPHA:1507
HP:0004299	Hernia of the abdominal wall	4920	ROR2	ORPHA:1507
HP:0004299	Hernia of the abdominal wall	4920	ROR2	OMIM:268310
HP:0004299	Hernia of the abdominal wall	8626	TP63	ORPHA:93930
HP:0004299	Hernia of the abdominal wall	3670	ISL1	ORPHA:93930
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	OMIM:619115
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	ORPHA:1899
HP:0004299	Hernia of the abdominal wall	1289	COL5A1	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1289	COL5A1	OMIM:130000
HP:0004299	Hernia of the abdominal wall	1290	COL5A2	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1281	COL3A1	ORPHA:286
HP:0004299	Hernia of the abdominal wall	1281	COL3A1	OMIM:130050
HP:0004299	Hernia of the abdominal wall	23347	SMCHD1	OMIM:603457
HP:0004299	Hernia of the abdominal wall	23347	SMCHD1	ORPHA:2250
HP:0004299	Hernia of the abdominal wall	6926	TBX3	OMIM:181450
HP:0004299	Hernia of the abdominal wall	22872	SEC31A	OMIM:618651
HP:0004299	Hernia of the abdominal wall	54968	TMEM70	OMIM:614052
HP:0004299	Hernia of the abdominal wall	11107	PRDM5	OMIM:614170
HP:0004299	Hernia of the abdominal wall	1656	DDX6	OMIM:618653
HP:0004299	Hernia of the abdominal wall	1501	CTNND2	ORPHA:281
HP:0004299	Hernia of the abdominal wall	9037	SEMA5A	ORPHA:281
HP:0004299	Hernia of the abdominal wall	84314	TMEM107	OMIM:617563
HP:0004299	Hernia of the abdominal wall	2783	GNB2	OMIM:619503
HP:0004299	Hernia of the abdominal wall	5337	PLD1	OMIM:212093
HP:0004299	Hernia of the abdominal wall	339983	NAT8L	OMIM:614063
HP:0004299	Hernia of the abdominal wall	54914	FOCAD	OMIM:619991
HP:0004299	Hernia of the abdominal wall	5048	PAFAH1B1	ORPHA:217385
HP:0004299	Hernia of the abdominal wall	7531	YWHAE	ORPHA:217385
HP:0004299	Hernia of the abdominal wall	9091	PIGQ	OMIM:618548
HP:0004299	Hernia of the abdominal wall	6134	RPL10	ORPHA:459070
HP:0004299	Hernia of the abdominal wall	6134	RPL10	OMIM:300998
HP:0004299	Hernia of the abdominal wall	2990	GUSB	ORPHA:584
HP:0004299	Hernia of the abdominal wall	715	C1R	OMIM:130080
HP:0004299	Hernia of the abdominal wall	9158	FIBP	OMIM:617107
HP:0004299	Hernia of the abdominal wall	9158	FIBP	ORPHA:500095
HP:0004299	Hernia of the abdominal wall	2542	SLC37A4	OMIM:619525
HP:0004299	Hernia of the abdominal wall	9993	DGCR2	OMIM:192430
HP:0004299	Hernia of the abdominal wall	8220	ESS2	OMIM:192430
HP:0004299	Hernia of the abdominal wall	8214	DGCR6	OMIM:192430
HP:0004299	Hernia of the abdominal wall	54487	DGCR8	OMIM:192430
HP:0004299	Hernia of the abdominal wall	6899	TBX1	OMIM:192430
HP:0004299	Hernia of the abdominal wall	6899	TBX1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	6899	TBX1	OMIM:188400
HP:0004299	Hernia of the abdominal wall	4621	MYH3	OMIM:178110
HP:0004299	Hernia of the abdominal wall	4621	MYH3	OMIM:193700
HP:0004299	Hernia of the abdominal wall	4621	MYH3	ORPHA:2990
HP:0004299	Hernia of the abdominal wall	2239	GPC4	ORPHA:373
HP:0004299	Hernia of the abdominal wall	2239	GPC4	OMIM:312870
HP:0004299	Hernia of the abdominal wall	2719	GPC3	ORPHA:373
HP:0004299	Hernia of the abdominal wall	2719	GPC3	OMIM:312870
HP:0004299	Hernia of the abdominal wall	79989	IFT56	OMIM:619534
HP:0004299	Hernia of the abdominal wall	284098	PIGW	OMIM:616025
HP:0004299	Hernia of the abdominal wall	259232	NALCN	OMIM:616266
HP:0004299	Hernia of the abdominal wall	23483	TGDS	OMIM:616145
HP:0004299	Hernia of the abdominal wall	4851	NOTCH1	OMIM:616028
HP:0004299	Hernia of the abdominal wall	2260	FGFR1	OMIM:166250
HP:0004299	Hernia of the abdominal wall	2260	FGFR1	ORPHA:2645
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	2006	ELN	OMIM:123700
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:904
HP:0004299	Hernia of the abdominal wall	2006	ELN	OMIM:194050
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	OMIM:219100
HP:0004299	Hernia of the abdominal wall	5832	ALDH18A1	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	5832	ALDH18A1	OMIM:219150
HP:0004299	Hernia of the abdominal wall	25836	NIPBL	OMIM:122470
HP:0004299	Hernia of the abdominal wall	2720	GLB1	OMIM:230500
HP:0004299	Hernia of the abdominal wall	2720	GLB1	OMIM:253010
HP:0004299	Hernia of the abdominal wall	4052	LTBP1	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	4052	LTBP1	OMIM:619451
HP:0004299	Hernia of the abdominal wall	30008	EFEMP2	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	30008	EFEMP2	OMIM:614437
HP:0004299	Hernia of the abdominal wall	1107	CHD3	OMIM:618205
HP:0004299	Hernia of the abdominal wall	3339	HSPG2	OMIM:255800
HP:0004299	Hernia of the abdominal wall	3339	HSPG2	ORPHA:800
HP:0004299	Hernia of the abdominal wall	2317	FLNB	OMIM:272460
HP:0004299	Hernia of the abdominal wall	6595	SMARCA2	OMIM:601358
HP:0004299	Hernia of the abdominal wall	1387	CREBBP	OMIM:618332
HP:0004299	Hernia of the abdominal wall	8295	TRRAP	OMIM:618454
HP:0004299	Hernia of the abdominal wall	54101	RIPK4	OMIM:263650
HP:0004299	Hernia of the abdominal wall	4212	MEIS2	ORPHA:261190
HP:0004299	Hernia of the abdominal wall	1801	DPH1	ORPHA:459061
HP:0004299	Hernia of the abdominal wall	2737	GLI3	ORPHA:672
HP:0004299	Hernia of the abdominal wall	2737	GLI3	ORPHA:36
HP:0004299	Hernia of the abdominal wall	2737	GLI3	OMIM:175700
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	ORPHA:284984
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	OMIM:613795
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	6448	SGSH	OMIM:252900
HP:0004299	Hernia of the abdominal wall	5351	PLOD1	OMIM:225400
HP:0004299	Hernia of the abdominal wall	5351	PLOD1	ORPHA:1900
HP:0004299	Hernia of the abdominal wall	1859	DYRK1A	ORPHA:268261
HP:0004299	Hernia of the abdominal wall	10765	KDM5B	OMIM:618109
HP:0004299	Hernia of the abdominal wall	6418	SET	OMIM:618106
HP:0004299	Hernia of the abdominal wall	79813	EHMT1	ORPHA:96147
HP:0004299	Hernia of the abdominal wall	79813	EHMT1	ORPHA:261652
HP:0004299	Hernia of the abdominal wall	2627	GATA6	OMIM:600001
HP:0004299	Hernia of the abdominal wall	374654	KIF7	ORPHA:36
HP:0004299	Hernia of the abdominal wall	374654	KIF7	OMIM:200990
HP:0004299	Hernia of the abdominal wall	374654	KIF7	OMIM:607131
HP:0004299	Hernia of the abdominal wall	2972	BRF1	ORPHA:444072
HP:0004299	Hernia of the abdominal wall	5515	PPP2CA	OMIM:618354
HP:0004299	Hernia of the abdominal wall	388015	RTL1	ORPHA:254528
HP:0004299	Hernia of the abdominal wall	8788	DLK1	ORPHA:254528
HP:0004299	Hernia of the abdominal wall	55384	MEG3	ORPHA:254528
HP:0004299	Hernia of the abdominal wall	23729	SHPK	ORPHA:440713
HP:0004299	Hernia of the abdominal wall	4952	OCRL	ORPHA:534
HP:0004299	Hernia of the abdominal wall	4125	MAN2B1	OMIM:248500
HP:0004299	Hernia of the abdominal wall	6601	SMARCC2	OMIM:618362
HP:0004299	Hernia of the abdominal wall	84068	SLC10A7	OMIM:618363
HP:0004299	Hernia of the abdominal wall	165	AEBP1	OMIM:618000
HP:0004299	Hernia of the abdominal wall	165	AEBP1	ORPHA:536532
HP:0004299	Hernia of the abdominal wall	8260	NAA10	OMIM:300855
HP:0004299	Hernia of the abdominal wall	8260	NAA10	ORPHA:276432
HP:0004299	Hernia of the abdominal wall	5831	PYCR1	OMIM:612940
HP:0004299	Hernia of the abdominal wall	5831	PYCR1	OMIM:614438
HP:0004299	Hernia of the abdominal wall	9719	ADAMTSL2	ORPHA:1901
HP:0004299	Hernia of the abdominal wall	9509	ADAMTS2	ORPHA:1901
HP:0004299	Hernia of the abdominal wall	9509	ADAMTS2	OMIM:225410
HP:0004299	Hernia of the abdominal wall	1312	COMT	ORPHA:567
HP:0004299	Hernia of the abdominal wall	221037	JMJD1C	ORPHA:567
HP:0004299	Hernia of the abdominal wall	2812	GP1BB	ORPHA:567
HP:0004299	Hernia of the abdominal wall	6239	RREB1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	7290	HIRA	ORPHA:567
HP:0004299	Hernia of the abdominal wall	9632	SEC24C	ORPHA:567
HP:0004299	Hernia of the abdominal wall	7353	UFD1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	421	ARVCF	ORPHA:567
HP:0004299	Hernia of the abdominal wall	22827	PUF60	ORPHA:508488
HP:0004299	Hernia of the abdominal wall	538	ATP7A	ORPHA:565
HP:0004299	Hernia of the abdominal wall	538	ATP7A	ORPHA:198
HP:0004299	Hernia of the abdominal wall	27031	NPHP3	OMIM:267010
HP:0004299	Hernia of the abdominal wall	1280	COL2A1	OMIM:156550
HP:0004299	Hernia of the abdominal wall	1280	COL2A1	OMIM:184250
HP:0004299	Hernia of the abdominal wall	11342	RNF13	OMIM:618379
HP:0004299	Hernia of the abdominal wall	11342	RNF13	ORPHA:544503
HP:0004299	Hernia of the abdominal wall	7317	UBA1	OMIM:301830
HP:0004299	Hernia of the abdominal wall	84896	ATAD1	OMIM:618011
HP:0004299	Hernia of the abdominal wall	26040	SETBP1	ORPHA:798
HP:0004299	Hernia of the abdominal wall	2316	FLNA	ORPHA:75497
HP:0004299	Hernia of the abdominal wall	9791	PTDSS1	OMIM:151050
HP:0004299	Hernia of the abdominal wall	9791	PTDSS1	ORPHA:2658
HP:0004299	Hernia of the abdominal wall	716	C1S	OMIM:617174
HP:0004299	Hernia of the abdominal wall	10526	IPO8	OMIM:619472
HP:0004299	Hernia of the abdominal wall	64840	PORCN	ORPHA:2092
HP:0004299	Hernia of the abdominal wall	64840	PORCN	OMIM:305600
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	OMIM:225320
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	ORPHA:230851
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	ORPHA:1899
HP:0004299	Hernia of the abdominal wall	94005	PIGS	OMIM:618143
HP:0004299	Hernia of the abdominal wall	6935	ZEB1	OMIM:609141
HP:0004299	Hernia of the abdominal wall	285590	SH3PXD2B	ORPHA:137834
HP:0004299	Hernia of the abdominal wall	10283	CWC27	ORPHA:166035
HP:0004299	Hernia of the abdominal wall	8720	MBTPS1	OMIM:618392
HP:0004299	Hernia of the abdominal wall	23405	DICER1	OMIM:618272
HP:0004299	Hernia of the abdominal wall	51360	MBTPS2	OMIM:308205
HP:0004299	Hernia of the abdominal wall	51360	MBTPS2	ORPHA:2273
HP:0004299	Hernia of the abdominal wall	1457	CSNK2A1	OMIM:617062
HP:0004299	Hernia of the abdominal wall	23112	TNRC6B	OMIM:619243
HP:0004299	Hernia of the abdominal wall	10220	GDF11	OMIM:619122
HP:0004299	Hernia of the abdominal wall	8450	CUL4B	ORPHA:85293
HP:0004299	Hernia of the abdominal wall	2799	GNS	OMIM:252940
HP:0004299	Hernia of the abdominal wall	5295	PIK3R1	ORPHA:3163
HP:0004299	Hernia of the abdominal wall	5295	PIK3R1	OMIM:269880
HP:0004299	Hernia of the abdominal wall	149461	CLDN19	ORPHA:2196
HP:0004299	Hernia of the abdominal wall	9487	PIGL	OMIM:280000
HP:0004299	Hernia of the abdominal wall	875	CBS	OMIM:236200
HP:0004299	Hernia of the abdominal wall	7474	WNT5A	OMIM:180700
HP:0004299	Hernia of the abdominal wall	7474	WNT5A	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	1855	DVL1	OMIM:180700
HP:0004299	Hernia of the abdominal wall	1855	DVL1	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	9897	WASHC5	ORPHA:7
HP:0004299	Hernia of the abdominal wall	28952	CCDC22	ORPHA:7
HP:0004299	Hernia of the abdominal wall	9652	SKIC3	ORPHA:84064
HP:0004299	Hernia of the abdominal wall	6499	SKIC2	ORPHA:84064
HP:0004299	Hernia of the abdominal wall	5518	PPP2R1A	ORPHA:457284
HP:0004299	Hernia of the abdominal wall	29969	MDFIC	OMIM:620014
HP:0004299	Hernia of the abdominal wall	7042	TGFB2	OMIM:614816
HP:0004299	Hernia of the abdominal wall	7042	TGFB2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	871	SERPINH1	OMIM:613848
HP:0004299	Hernia of the abdominal wall	168667	BMPER	OMIM:608022
HP:0004299	Hernia of the abdominal wall	4702	NDUFA8	OMIM:619272
HP:0004299	Hernia of the abdominal wall	10128	LRPPRC	OMIM:220111
HP:0004299	Hernia of the abdominal wall	55503	TRPV6	OMIM:618188
HP:0004299	Hernia of the abdominal wall	2904	GRIN2B	OMIM:613970
HP:0004299	Hernia of the abdominal wall	57539	WDR35	OMIM:613610
HP:0004299	Hernia of the abdominal wall	145173	B3GLCT	ORPHA:709
HP:0004299	Hernia of the abdominal wall	123263	MTFMT	OMIM:614947
HP:0004299	Hernia of the abdominal wall	4774	NFIA	OMIM:613735
HP:0004299	Hernia of the abdominal wall	4758	NEU1	OMIM:256550
HP:0004299	Hernia of the abdominal wall	4758	NEU1	ORPHA:93399
HP:0004299	Hernia of the abdominal wall	4758	NEU1	ORPHA:93400
HP:0004299	Hernia of the abdominal wall	23126	POGZ	ORPHA:468678
HP:0004299	Hernia of the abdominal wall	5352	PLOD2	OMIM:609220
HP:0004299	Hernia of the abdominal wall	64324	NSD1	ORPHA:821
HP:0004299	Hernia of the abdominal wall	64324	NSD1	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	29072	SETD2	ORPHA:821
HP:0004299	Hernia of the abdominal wall	10297	APC2	ORPHA:821
HP:0004299	Hernia of the abdominal wall	10093	ARPC4	OMIM:620141
HP:0004299	Hernia of the abdominal wall	4281	MID1	OMIM:300000
HP:0004299	Hernia of the abdominal wall	4281	MID1	ORPHA:2745
HP:0004299	Hernia of the abdominal wall	8443	GNPAT	OMIM:222765
HP:0004299	Hernia of the abdominal wall	613	BCR	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	1399	CRKL	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	5594	MAPK1	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	25782	RAB3GAP2	OMIM:212720
HP:0004299	Hernia of the abdominal wall	6197	RPS6KA3	OMIM:303600
HP:0004299	Hernia of the abdominal wall	1146	CHRNG	OMIM:265000
HP:0004299	Hernia of the abdominal wall	1146	CHRNG	ORPHA:2990
HP:0004299	Hernia of the abdominal wall	57492	ARID1B	OMIM:135900
HP:0004299	Hernia of the abdominal wall	92579	G6PC3	OMIM:612541
HP:0004299	Hernia of the abdominal wall	8289	ARID1A	OMIM:614607
HP:0004299	Hernia of the abdominal wall	6598	SMARCB1	OMIM:614608
HP:0004299	Hernia of the abdominal wall	26053	AUTS2	ORPHA:352490
HP:0004299	Hernia of the abdominal wall	26053	AUTS2	OMIM:615834
HP:0004299	Hernia of the abdominal wall	23314	SATB2	OMIM:612313
HP:0004299	Hernia of the abdominal wall	25942	SIN3A	OMIM:613406
HP:0004299	Hernia of the abdominal wall	3425	IDUA	OMIM:607014
HP:0004299	Hernia of the abdominal wall	3425	IDUA	OMIM:607015
HP:0004299	Hernia of the abdominal wall	175	AGA	ORPHA:93
HP:0004299	Hernia of the abdominal wall	5826	ABCD4	OMIM:614857
HP:0004299	Hernia of the abdominal wall	699	BUB1	OMIM:620183
HP:0004299	Hernia of the abdominal wall	1836	SLC26A2	OMIM:600972
HP:0004299	Hernia of the abdominal wall	197257	LDHD	OMIM:245450
HP:0004299	Hernia of the abdominal wall	1857	DVL3	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	2535	FZD2	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	6804	STX1A	ORPHA:904
HP:0004299	Hernia of the abdominal wall	7461	CLIP2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	84277	DNAJC30	ORPHA:904
HP:0004299	Hernia of the abdominal wall	8468	FKBP6	ORPHA:904
HP:0004299	Hernia of the abdominal wall	5982	RFC2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	2969	GTF2I	ORPHA:904
HP:0004299	Hernia of the abdominal wall	3984	LIMK1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	9569	GTF2IRD1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	155382	VPS37D	ORPHA:904
HP:0004299	Hernia of the abdominal wall	155368	METTL27	ORPHA:904
HP:0004299	Hernia of the abdominal wall	114049	BUD23	ORPHA:904
HP:0004299	Hernia of the abdominal wall	7458	EIF4H	ORPHA:904
HP:0004299	Hernia of the abdominal wall	84163	GTF2IRD2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	9275	BCL7B	ORPHA:904
HP:0004299	Hernia of the abdominal wall	26608	TBL2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	653361	NCF1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	135886	TMEM270	ORPHA:904
HP:0004299	Hernia of the abdominal wall	51085	MLXIPL	ORPHA:904
HP:0004299	Hernia of the abdominal wall	51085	MLXIPL	OMIM:194050
HP:0004299	Hernia of the abdominal wall	9031	BAZ1B	ORPHA:904
HP:0004299	Hernia of the abdominal wall	10056	FARSB	OMIM:613658
HP:0004299	Hernia of the abdominal wall	81031	SLC2A10	ORPHA:3342
HP:0004299	Hernia of the abdominal wall	81031	SLC2A10	OMIM:208050
HP:0004299	Hernia of the abdominal wall	54499	TMCO1	OMIM:213980
HP:0004299	Hernia of the abdominal wall	84992	PIGY	OMIM:616809
HP:0004299	Hernia of the abdominal wall	10907	TXNL4A	OMIM:608572
HP:0004299	Hernia of the abdominal wall	58508	KMT2C	ORPHA:261652
HP:0004299	Hernia of the abdominal wall	4094	MAF	ORPHA:1272
HP:0004299	Hernia of the abdominal wall	8481	OFD1	OMIM:300209
HP:0004299	Hernia of the abdominal wall	3481	IGF2	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	3481	IGF2	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	1028	CDKN1C	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	5324	PLAG1	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	8091	HMGA2	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	63895	PIEZO2	ORPHA:1154
HP:0004299	Hernia of the abdominal wall	63895	PIEZO2	OMIM:248700
HP:0004299	Hernia of the abdominal wall	10984	KCNQ1OT1	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	283120	H19	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	2146	EZH2	OMIM:277590
HP:0004299	Hernia of the abdominal wall	2146	EZH2	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	7048	TGFBR2	OMIM:610168
HP:0004299	Hernia of the abdominal wall	7048	TGFBR2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	8726	EED	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	23512	SUZ12	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	55690	PACS1	ORPHA:329224
HP:0004299	Hernia of the abdominal wall	2245	FGD1	ORPHA:915
HP:0004299	Hernia of the abdominal wall	2245	FGD1	OMIM:305400
HP:0004299	Hernia of the abdominal wall	2200	FBN1	ORPHA:2462
HP:0004299	Hernia of the abdominal wall	2200	FBN1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	6497	SKI	ORPHA:2462
HP:0004299	Hernia of the abdominal wall	6497	SKI	OMIM:182212
HP:0004299	Hernia of the abdominal wall	4089	SMAD4	ORPHA:2588
HP:0004299	Hernia of the abdominal wall	4089	SMAD4	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	411	ARSB	OMIM:253200
HP:0004299	Hernia of the abdominal wall	10847	SRCAP	OMIM:136140
HP:0004299	Hernia of the abdominal wall	4854	NOTCH3	OMIM:130720
HP:0004299	Hernia of the abdominal wall	4854	NOTCH3	ORPHA:2789
HP:0004299	Hernia of the abdominal wall	23291	FBXW11	OMIM:618914
HP:0004299	Hernia of the abdominal wall	4953	ODC1	ORPHA:544488
HP:0004299	Hernia of the abdominal wall	998	CDC42	OMIM:616737
HP:0004299	Hernia of the abdominal wall	998	CDC42	ORPHA:487796
HP:0004299	Hernia of the abdominal wall	55033	FKBP14	OMIM:614557
HP:0004299	Hernia of the abdominal wall	2187	FANCB	ORPHA:3412
HP:0004299	Hernia of the abdominal wall	2657	GDF1	OMIM:208530
HP:0004299	Hernia of the abdominal wall	10265	IRX5	OMIM:611174
HP:0004299	Hernia of the abdominal wall	134701	RIPPLY2	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	10683	DLL3	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	3955	LFNG	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	84667	HES7	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	145873	MESP2	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	55764	IFT122	OMIM:218330
HP:0004299	Hernia of the abdominal wall	367	AR	OMIM:300068
HP:0004299	Hernia of the abdominal wall	8884	SLC5A6	OMIM:619903
HP:0004299	Hernia of the abdominal wall	2626	GATA4	OMIM:615542
HP:0004299	Hernia of the abdominal wall	56623	INPP5E	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	91147	TMEM67	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	23322	RPGRIP1L	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	57545	CC2D2A	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	79633	FAT4	OMIM:615546
HP:0004299	Hernia of the abdominal wall	6785	ELOVL4	OMIM:614457
HP:0004299	Hernia of the abdominal wall	26227	PHGDH	ORPHA:79351
HP:0004299	Hernia of the abdominal wall	2313	FLI1	ORPHA:2308
HP:0004299	Hernia of the abdominal wall	10664	CTCF	ORPHA:363611
HP:0004299	Hernia of the abdominal wall	2588	GALNS	OMIM:253000
HP:0004299	Hernia of the abdominal wall	1861	TOR1A	OMIM:618947
HP:0004299	Hernia of the abdominal wall	8905	AP1S2	ORPHA:1568
HP:0004299	Hernia of the abdominal wall	55617	TASP1	OMIM:618950
HP:0004299	Hernia of the abdominal wall	2741	GLRA1	OMIM:149400
HP:0004299	Hernia of the abdominal wall	10243	GPHN	OMIM:149400
HP:0004299	Hernia of the abdominal wall	523	ATP6V1A	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	523	ATP6V1A	OMIM:617403
HP:0004299	Hernia of the abdominal wall	529	ATP6V1E1	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	7518	XRCC4	OMIM:616541
HP:0004299	Hernia of the abdominal wall	10020	GNE	OMIM:269921
HP:0004299	Hernia of the abdominal wall	51780	KDM3B	OMIM:618846
HP:0004299	Hernia of the abdominal wall	5430	POLR2A	OMIM:618603
HP:0004299	Hernia of the abdominal wall	9469	CHST3	OMIM:245600
HP:0004299	Hernia of the abdominal wall	26229	B3GAT3	OMIM:245600
HP:0004299	Hernia of the abdominal wall	7043	TGFB3	OMIM:615582
HP:0004299	Hernia of the abdominal wall	7043	TGFB3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	57728	WDR19	OMIM:614376
HP:0004299	Hernia of the abdominal wall	203068	TUBB	ORPHA:2505
HP:0004299	Hernia of the abdominal wall	10982	MAPRE2	ORPHA:2505
HP:0004299	Hernia of the abdominal wall	221927	BRAT1	OMIM:614498
HP:0004299	Hernia of the abdominal wall	170302	ARX	ORPHA:2508
HP:0004299	Hernia of the abdominal wall	4629	MYH11	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	7046	TGFBR1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4015	LOX	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4087	SMAD2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	59	ACTA2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	5592	PRKG1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	2301	FOXE3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4144	MAT2A	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	23493	HEY2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	8076	MFAP5	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4638	MYLK	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	341640	FREM2	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	80144	FRAS1	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	23426	GRIP1	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	1788	DNMT3A	ORPHA:404443
HP:0004299	Hernia of the abdominal wall	1788	DNMT3A	OMIM:615879
HP:0004299	Hernia of the abdominal wall	4487	MSX1	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	5818	NECTIN1	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	3664	IRF6	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	7849	PAX8	OMIM:218700
HP:0004299	Hernia of the abdominal wall	7849	PAX8	ORPHA:95712
HP:0004299	Hernia of the abdominal wall	283489	CHAMP1	OMIM:616579
HP:0004299	Hernia of the abdominal wall	72	ACTG2	ORPHA:2604
HP:0004299	Hernia of the abdominal wall	72	ACTG2	ORPHA:2241
HP:0004299	Hernia of the abdominal wall	23384	SPECC1L	ORPHA:1519
HP:0004299	Hernia of the abdominal wall	3764	KCNJ8	ORPHA:1517
HP:0004299	Hernia of the abdominal wall	10060	ABCC9	ORPHA:1517
HP:0004299	Hernia of the abdominal wall	10060	ABCC9	OMIM:239850
HP:0004299	Hernia of the abdominal wall	7253	TSHR	ORPHA:90673
HP:0004299	Hernia of the abdominal wall	7252	TSHB	ORPHA:90674
HP:0004299	Hernia of the abdominal wall	7252	TSHB	OMIM:275100
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	ORPHA:2963
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	ORPHA:2095
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	OMIM:612289
HP:0004299	Hernia of the abdominal wall	54453	RIN2	OMIM:613075
HP:0004299	Hernia of the abdominal wall	54453	RIN2	ORPHA:217335
HP:0004299	Hernia of the abdominal wall	50814	NSDHL	OMIM:308050
HP:0004299	Hernia of the abdominal wall	672	BRCA1	ORPHA:84
HP:0004299	Hernia of the abdominal wall	10459	MAD2L2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	7516	XRCC2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	29089	UBE2T	ORPHA:84
HP:0004299	Hernia of the abdominal wall	675	BRCA2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55120	FANCL	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2177	FANCD2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2175	FANCA	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2176	FANCC	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2178	FANCE	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2188	FANCF	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2189	FANCG	ORPHA:84
HP:0004299	Hernia of the abdominal wall	5888	RAD51	ORPHA:84
HP:0004299	Hernia of the abdominal wall	5889	RAD51C	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55159	RFWD3	ORPHA:84
HP:0004299	Hernia of the abdominal wall	83990	BRIP1	ORPHA:84
HP:0004299	Hernia of the abdominal wall	57697	FANCM	ORPHA:84
HP:0004299	Hernia of the abdominal wall	79728	PALB2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	84464	SLX4	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2072	ERCC4	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55215	FANCI	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2697	GJA1	ORPHA:2710
HP:0004299	Hernia of the abdominal wall	10555	AGPAT2	OMIM:608594
HP:0004299	Hernia of the abdominal wall	3070	HELLS	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	1789	DNMT3B	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	83879	CDCA7	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	9841	ZBTB24	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	1009	CDH11	ORPHA:1299
HP:0004299	Hernia of the abdominal wall	1954	MEGF8	OMIM:614976
HP:0004299	Hernia of the abdominal wall	1954	MEGF8	ORPHA:65759
HP:0004299	Hernia of the abdominal wall	649	BMP1	OMIM:614856
HP:0004299	Hernia of the abdominal wall	55636	CHD7	OMIM:214800
HP:0004299	Hernia of the abdominal wall	4036	LRP2	ORPHA:2143
HP:0004299	Hernia of the abdominal wall	4036	LRP2	OMIM:222448
HP:0004299	Hernia of the abdominal wall	1947	EFNB1	OMIM:304110
HP:0004299	Hernia of the abdominal wall	5626	PROP1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	89884	LHX4	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	8022	LHX3	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	5449	POU1F1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	8820	HESX1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	79753	SNIP1	OMIM:614501
HP:0004299	Hernia of the abdominal wall	5593	PRKG2	OMIM:619636
HP:0004299	Hernia of the abdominal wall	8364	H4C3	OMIM:619758
HP:0004299	Hernia of the abdominal wall	8517	IKBKG	ORPHA:464
HP:0004299	Hernia of the abdominal wall	50506	DUOX2	ORPHA:226316
HP:0004299	Hernia of the abdominal wall	50506	DUOX2	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	25802	LMOD1	ORPHA:2241
HP:0004299	Hernia of the abdominal wall	51341	ZBTB7A	OMIM:619769
HP:0004299	Hernia of the abdominal wall	55343	SLC35C1	ORPHA:99843
HP:0004299	Hernia of the abdominal wall	7030	TFE3	OMIM:301066
HP:0004299	Hernia of the abdominal wall	285203	EOGT	OMIM:615297
HP:0004299	Hernia of the abdominal wall	57479	PRR12	OMIM:619539
HP:0004299	Hernia of the abdominal wall	84168	ANTXR1	OMIM:230740
HP:0004299	Hernia of the abdominal wall	84168	ANTXR1	ORPHA:2067
HP:0004299	Hernia of the abdominal wall	64919	BCL11B	OMIM:617237
HP:0004299	Hernia of the abdominal wall	3930	LBR	OMIM:169400
HP:0004299	Hernia of the abdominal wall	9321	TRIP11	ORPHA:93299
HP:0004299	Hernia of the abdominal wall	404672	GTF2H5	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	833	CARS1	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2068	ERCC2	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	7737	RNF113A	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	136647	MPLKIP	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	6897	TARS1	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2071	ERCC3	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2961	GTF2E2	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	147372	CCBE1	OMIM:235510
HP:0004299	Hernia of the abdominal wall	6528	SLC5A5	OMIM:274400
HP:0004299	Hernia of the abdominal wall	6528	SLC5A5	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	117581	TWIST2	ORPHA:920
HP:0004299	Hernia of the abdominal wall	9742	IFT140	OMIM:266920
HP:0004299	Hernia of the abdominal wall	51053	GMNN	OMIM:616835
HP:0004299	Hernia of the abdominal wall	90417	KNSTRN	OMIM:613328
HP:0004299	Hernia of the abdominal wall	90417	KNSTRN	ORPHA:221139
HP:0004299	Hernia of the abdominal wall	5293	PIK3CD	OMIM:613328
HP:0004299	Hernia of the abdominal wall	5293	PIK3CD	ORPHA:221139
HP:0004299	Hernia of the abdominal wall	6792	CDKL5	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	3736	KCNA1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2775	GNAO1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	81603	TRIM8	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2902	GRIN1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	79751	SLC25A22	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	150094	SIK1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	8573	CASK	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	23312	DMXL2	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2917	GRM7	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	11284	PNKP	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	6326	SCN2A	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	51227	PIGP	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	6324	SCN1B	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	4761	NEUROD2	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	9759	HDAC4	ORPHA:1001
HP:0004299	Hernia of the abdominal wall	546	ATRX	OMIM:301040
HP:0004299	Hernia of the abdominal wall	6299	SALL1	OMIM:107480
HP:0004299	Hernia of the abdominal wall	169792	GLIS3	OMIM:610199
HP:0004299	Hernia of the abdominal wall	3097	HIVEP2	OMIM:616977
HP:0004299	Hernia of the abdominal wall	3767	KCNJ11	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	346171	ZFP57	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	57061	HYMAI	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	57061	HYMAI	ORPHA:96191
HP:0004299	Hernia of the abdominal wall	6833	ABCC8	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	5325	PLAGL1	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	5325	PLAGL1	ORPHA:96191
HP:0004299	Hernia of the abdominal wall	79068	FTO	OMIM:612938
HP:0004299	Hernia of the abdominal wall	4784	NFIX	OMIM:602535
HP:0004299	Hernia of the abdominal wall	3756	KCNH1	OMIM:135500
HP:0004299	Hernia of the abdominal wall	85358	SHANK3	ORPHA:48652
HP:0004299	Hernia of the abdominal wall	10082	GPC6	OMIM:258315
HP:0004299	Hernia of the abdominal wall	405753	DUOXA2	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	7038	TG	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	7173	TPO	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	389434	IYD	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	55603	TENT5A	OMIM:617952
HP:0004299	Hernia of the abdominal wall	2019	EN1	OMIM:619218
HP:0004299	Hernia of the abdominal wall	23389	MED13L	ORPHA:369891
HP:0004299	Hernia of the abdominal wall	1482	NKX2-5	ORPHA:95712
HP:0004299	Hernia of the abdominal wall	6045	RNF2	OMIM:619460
HP:0004299	Hernia of the abdominal wall	2743	GLRB	ORPHA:3197
HP:0004299	Hernia of the abdominal wall	9152	SLC6A5	ORPHA:3197
HP:0004299	Hernia of the abdominal wall	633	BGN	OMIM:300989
HP:0004299	Hernia of the abdominal wall	2475	MTOR	OMIM:616638
HP:0004299	Hernia of the abdominal wall	51715	RAB23	ORPHA:65759
HP:0004299	Hernia of the abdominal wall	51715	RAB23	OMIM:201000
HP:0004299	Hernia of the abdominal wall	84265	POLR3GL	OMIM:619234
HP:0004299	Hernia of the abdominal wall	26580	BSCL2	OMIM:269700
HP:0004299	Hernia of the abdominal wall	54880	BCOR	OMIM:300166
HP:0004299	Hernia of the abdominal wall	2263	FGFR2	ORPHA:1555
HP:0004299	Hernia of the abdominal wall	100506658	OCLN	OMIM:251290
HP:0004299	Hernia of the abdominal wall	23169	SLC35D1	OMIM:269250
HP:0004299	Hernia of the abdominal wall	5879	RAC1	OMIM:617751
HP:0004299	Hernia of the abdominal wall	5879	RAC1	ORPHA:500159
HP:0004299	Hernia of the abdominal wall	84231	TRAF7	OMIM:618164
HP:0004299	Hernia of the abdominal wall	10584	COLEC10	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	5648	MASP1	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	78989	COLEC11	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	63916	ELMO2	OMIM:606893
HP:0004299	Hernia of the abdominal wall	5727	PTCH1	ORPHA:77301
HP:0004299	Hernia of the abdominal wall	55553	SOX6	OMIM:618971
HP:0004299	Hernia of the abdominal wall	9361	LONP1	OMIM:600373
HP:0004299	Hernia of the abdominal wall	2294	FOXF1	OMIM:265380
HP:0004299	Hernia of the abdominal wall	28981	IFT81	OMIM:617895
HP:0004299	Hernia of the abdominal wall	23556	PIGN	ORPHA:2059
HP:0004299	Hernia of the abdominal wall	55112	DYNC2I1	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	57560	IFT80	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	79659	DYNC2H1	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	89891	DYNC2I2	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	91754	NEK9	OMIM:617022
HP:0004299	Hernia of the abdominal wall	51259	TMEM216	OMIM:603194
HP:0004299	Hernia of the abdominal wall	10225	CD96	OMIM:211750
HP:0004299	Hernia of the abdominal wall	10225	CD96	ORPHA:1308
HP:0004299	Hernia of the abdominal wall	7547	ZIC3	OMIM:306955
HP:0004299	Hernia of the abdominal wall	1147	CHUK	OMIM:613630
HP:0004299	Hernia of the abdominal wall	158326	FREM1	ORPHA:3366
HP:0004299	Hernia of the abdominal wall	158326	FREM1	OMIM:248450
HP:0004299	Hernia of the abdominal wall	4313	MMP2	ORPHA:371428
HP:0004299	Hernia of the abdominal wall	4323	MMP14	ORPHA:371428
HP:0004299	Hernia of the abdominal wall	1301	COL11A1	OMIM:228520
HP:0004299	Hernia of the abdominal wall	1301	COL11A1	ORPHA:2021
HP:0004299	Hernia of the abdominal wall	79796	ALG9	OMIM:263210
HP:0004299	Hernia of the abdominal wall	79796	ALG9	ORPHA:79328
HP:0004299	Hernia of the abdominal wall	7067	THRA	OMIM:614450
HP:0004299	Hernia of the abdominal wall	55012	PPP2R3C	OMIM:618419
HP:0004299	Hernia of the abdominal wall	10046	MAMLD1	ORPHA:95706
HP:0004299	Hernia of the abdominal wall	1302	COL11A2	ORPHA:2021
HP:0004299	Hernia of the abdominal wall	4524	MTHFR	ORPHA:563609
HP:0004299	Hernia of the abdominal wall	57216	VANGL2	ORPHA:563609
HP:0004299	Hernia of the abdominal wall	57217	TTC7A	OMIM:243150
HP:0004299	Hernia of the abdominal wall	57217	TTC7A	ORPHA:436252
HP:0004299	Hernia of the abdominal wall	4659	PPP1R12A	OMIM:618820
HP:0004299	Hernia of the abdominal wall	2571	GAD1	OMIM:619124
HP:0004299	Hernia of the abdominal wall	9772	TMEM94	OMIM:618316
HP:0004299	Hernia of the abdominal wall	139285	AMER1	OMIM:300373
HP:0004299	Hernia of the abdominal wall	3090	HIC1	ORPHA:531
HP:0004299	Hernia of the abdominal wall	153241	CEP120	OMIM:616300
HP:0004299	Hernia of the abdominal wall	3784	KCNQ1	OMIM:130650
HP:0004299	Hernia of the abdominal wall	727857	BHLHA9	ORPHA:3329
HP:0004299	Hernia of the abdominal wall	5297	PI4KA	ORPHA:436252
HP:0004299	Hernia of the abdominal wall	219844	HYLS1	OMIM:236680
HP:0004299	Hernia of the abdominal wall	3239	HOXD13	ORPHA:887
HP:0004299	Hernia of the abdominal wall	54903	MKS1	OMIM:249000
HP:0004299	Hernia of the abdominal wall	51339	DACT1	ORPHA:63260
HP:0004299	Hernia of the abdominal wall	4204	MECP2	ORPHA:1762
HP:0004299	Hernia of the abdominal wall	114548	NLRP3	ORPHA:575
HP:0030142	Abnormal bowel sounds	1235	CCR6	ORPHA:220393
HP:0030142	Abnormal bowel sounds	1490	CCN2	ORPHA:220393
HP:0030142	Abnormal bowel sounds	3663	IRF5	ORPHA:220393
HP:0030142	Abnormal bowel sounds	857	CAV1	ORPHA:220393
HP:0030142	Abnormal bowel sounds	3123	HLA-DRB1	ORPHA:220393
HP:0030142	Abnormal bowel sounds	6523	SLC5A1	OMIM:606824
HP:0030142	Abnormal bowel sounds	6523	SLC5A1	ORPHA:35710
HP:0030142	Abnormal bowel sounds	1890	TYMP	OMIM:603041
HP:0030142	Abnormal bowel sounds	5428	POLG	OMIM:603041
HP:0030142	Abnormal bowel sounds	1616	DAXX	ORPHA:100075
HP:0030142	Abnormal bowel sounds	546	ATRX	ORPHA:100075
HP:0030142	Abnormal bowel sounds	6392	SDHD	ORPHA:100093
HP:0030141	Abnormality of the posterior hairline	64132	XYLT2	OMIM:605822
HP:0030141	Abnormality of the posterior hairline	64132	XYLT2	ORPHA:85194
HP:0030141	Abnormality of the posterior hairline	3479	IGF1	ORPHA:73272
HP:0030141	Abnormality of the posterior hairline	324	APC	ORPHA:261584
HP:0030141	Abnormality of the posterior hairline	1947	EFNB1	ORPHA:1520
HP:0030141	Abnormality of the posterior hairline	1947	EFNB1	OMIM:304110
HP:0030141	Abnormality of the posterior hairline	161742	SPRED1	OMIM:611431
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:115150
HP:0030141	Abnormality of the posterior hairline	673	BRAF	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:613707
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:613706
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	79650	USB1	OMIM:604173
HP:0030141	Abnormality of the posterior hairline	10847	SRCAP	OMIM:136140
HP:0030141	Abnormality of the posterior hairline	3020	H3-3A	OMIM:619720
HP:0030141	Abnormality of the posterior hairline	23030	KDM4B	OMIM:619320
HP:0030141	Abnormality of the posterior hairline	5184	PEPD	OMIM:170100
HP:0030141	Abnormality of the posterior hairline	4893	NRAS	OMIM:613224
HP:0030141	Abnormality of the posterior hairline	4893	NRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	65082	VPS33A	OMIM:617303
HP:0030141	Abnormality of the posterior hairline	80055	PGAP1	OMIM:615802
HP:0030141	Abnormality of the posterior hairline	25782	RAB3GAP2	OMIM:212720
HP:0030141	Abnormality of the posterior hairline	25782	RAB3GAP2	ORPHA:1387
HP:0030141	Abnormality of the posterior hairline	3764	KCNJ8	ORPHA:1517
HP:0030141	Abnormality of the posterior hairline	10060	ABCC9	ORPHA:1517
HP:0030141	Abnormality of the posterior hairline	4297	KMT2A	OMIM:605130
HP:0030141	Abnormality of the posterior hairline	4763	NF1	OMIM:601321
HP:0030141	Abnormality of the posterior hairline	55777	MBD5	OMIM:156200
HP:0030141	Abnormality of the posterior hairline	165	AEBP1	OMIM:618000
HP:0030141	Abnormality of the posterior hairline	10265	IRX5	OMIM:611174
HP:0030141	Abnormality of the posterior hairline	5604	MAP2K1	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	5604	MAP2K1	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	5605	MAP2K2	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	3845	KRAS	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	3845	KRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	1000	CDH2	OMIM:618929
HP:0030141	Abnormality of the posterior hairline	7020	TFAP2A	OMIM:113620
HP:0030141	Abnormality of the posterior hairline	7319	UBE2A	OMIM:300860
HP:0030141	Abnormality of the posterior hairline	7319	UBE2A	ORPHA:163956
HP:0030141	Abnormality of the posterior hairline	10815	CPLX1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	10815	CPLX1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	54872	PIGG	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	7469	NELFA	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	1487	CTBP1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	1487	CTBP1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	3954	LETM1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	3954	LETM1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	7468	NSD2	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	7468	NSD2	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	8036	SHOC2	ORPHA:2701
HP:0030141	Abnormality of the posterior hairline	5500	PPP1CB	ORPHA:2701
HP:0030141	Abnormality of the posterior hairline	5500	PPP1CB	OMIM:617506
HP:0030141	Abnormality of the posterior hairline	4854	NOTCH3	ORPHA:2789
HP:0030141	Abnormality of the posterior hairline	51729	WBP11	OMIM:619227
HP:0030141	Abnormality of the posterior hairline	200734	SPRED2	OMIM:619745
HP:0030141	Abnormality of the posterior hairline	200734	SPRED2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6602	SMARCD1	OMIM:618779
HP:0030141	Abnormality of the posterior hairline	53834	FGFRL1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	6234	RPS28	OMIM:606164
HP:0030141	Abnormality of the posterior hairline	60	ACTB	OMIM:243310
HP:0030141	Abnormality of the posterior hairline	60	ACTB	ORPHA:2995
HP:0030141	Abnormality of the posterior hairline	57167	SALL4	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	9935	MAFB	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	1123	CHN1	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	23476	BRD4	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	9126	SMC3	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	8243	SMC1A	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	25836	NIPBL	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	25836	NIPBL	OMIM:122470
HP:0030141	Abnormality of the posterior hairline	55869	HDAC8	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	5885	RAD21	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	392255	GDF6	OMIM:118100
HP:0030141	Abnormality of the posterior hairline	392255	GDF6	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	1387	CREBBP	OMIM:180849
HP:0030141	Abnormality of the posterior hairline	2033	EP300	OMIM:180849
HP:0030141	Abnormality of the posterior hairline	29957	SLC25A24	OMIM:612289
HP:0030141	Abnormality of the posterior hairline	79005	SCNM1	OMIM:620107
HP:0030141	Abnormality of the posterior hairline	4784	NFIX	ORPHA:420179
HP:0030141	Abnormality of the posterior hairline	54499	TMCO1	OMIM:213980
HP:0030141	Abnormality of the posterior hairline	54499	TMCO1	ORPHA:1394
HP:0030141	Abnormality of the posterior hairline	5293	PIK3CD	ORPHA:221139
HP:0030141	Abnormality of the posterior hairline	90417	KNSTRN	ORPHA:221139
HP:0030141	Abnormality of the posterior hairline	79796	ALG9	ORPHA:79328
HP:0030141	Abnormality of the posterior hairline	8567	MADD	OMIM:619004
HP:0030141	Abnormality of the posterior hairline	374879	ZNF699	OMIM:619488
HP:0030141	Abnormality of the posterior hairline	5594	MAPK1	OMIM:619087
HP:0030141	Abnormality of the posterior hairline	28952	CCDC22	OMIM:300963
HP:0030141	Abnormality of the posterior hairline	4849	CNOT3	OMIM:618672
HP:0030141	Abnormality of the posterior hairline	226	ALDOA	OMIM:611881
HP:0030141	Abnormality of the posterior hairline	4222	MEOX1	OMIM:214300
HP:0030141	Abnormality of the posterior hairline	4222	MEOX1	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	80267	EDEM3	OMIM:619493
HP:0030141	Abnormality of the posterior hairline	9897	WASHC5	OMIM:220210
HP:0030141	Abnormality of the posterior hairline	10020	GNE	OMIM:269921
HP:0030141	Abnormality of the posterior hairline	5286	PIK3C2A	OMIM:618440
HP:0030141	Abnormality of the posterior hairline	738	VPS51	OMIM:618606
HP:0030141	Abnormality of the posterior hairline	22930	RAB3GAP1	ORPHA:1387
HP:0030141	Abnormality of the posterior hairline	23133	PHF8	ORPHA:85287
HP:0030141	Abnormality of the posterior hairline	23133	PHF8	OMIM:300263
HP:0030141	Abnormality of the posterior hairline	54187	NANS	OMIM:610442
HP:0030141	Abnormality of the posterior hairline	84700	MYO18B	OMIM:616549
HP:0030141	Abnormality of the posterior hairline	22800	RRAS2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	867	CBL	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	867	CBL	OMIM:613563
HP:0030141	Abnormality of the posterior hairline	8216	LZTR1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	8216	LZTR1	OMIM:605275
HP:0030141	Abnormality of the posterior hairline	6016	RIT1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6237	RRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5894	RAF1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	22808	MRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6654	SOS1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6655	SOS2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5781	PTPN11	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5781	PTPN11	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	5922	RASA2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	4621	MYH3	ORPHA:2990
HP:0030141	Abnormality of the posterior hairline	1146	CHRNG	ORPHA:2990
HP:0030141	Abnormality of the posterior hairline	5468	PPARG	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	10555	AGPAT2	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	284119	CAVIN1	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	26580	BSCL2	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	2353	FOS	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	857	CAV1	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	6913	TBX15	ORPHA:93333
HP:0030141	Abnormality of the posterior hairline	79087	ALG12	ORPHA:79324
HP:0030141	Abnormality of the posterior hairline	71	ACTG1	ORPHA:2995
HP:0030141	Abnormality of the posterior hairline	9469	CHST3	OMIM:245600
HP:0030141	Abnormality of the posterior hairline	26229	B3GAT3	OMIM:245600
HP:0030141	Abnormality of the posterior hairline	6595	SMARCA2	OMIM:601358
HP:0030141	Abnormality of the posterior hairline	29123	ANKRD11	OMIM:148050
HP:0030141	Abnormality of the posterior hairline	8621	CDK13	OMIM:617360
HP:0030141	Abnormality of the posterior hairline	9181	ARHGEF2	OMIM:617523
HP:0030141	Abnormality of the posterior hairline	9573	GDF3	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	6736	SRY	ORPHA:1772
HP:0030141	Abnormality of the posterior hairline	27152	INTU	OMIM:617925
HP:0030141	Abnormality of the posterior hairline	10075	HUWE1	OMIM:309590
HP:0030149	Cardiogenic shock	6123	RPL3L	OMIM:619371
HP:0030149	Cardiogenic shock	1616	DAXX	ORPHA:100075
HP:0030149	Cardiogenic shock	546	ATRX	ORPHA:100075
HP:0030149	Cardiogenic shock	4633	MYL2	OMIM:619424
HP:0030149	Cardiogenic shock	442721	LMOD2	OMIM:619897
HP:0030149	Cardiogenic shock	368	ABCC6	OMIM:614473
HP:0030149	Cardiogenic shock	6389	SDHA	OMIM:613642
HP:0030149	Cardiogenic shock	8260	NAA10	ORPHA:276432
HP:0030148	Heart murmur	3949	LDLR	ORPHA:391665
HP:0030148	Heart murmur	255738	PCSK9	ORPHA:391665
HP:0030148	Heart murmur	26119	LDLRAP1	ORPHA:391665
HP:0030148	Heart murmur	338	APOB	ORPHA:391665
HP:0030148	Heart murmur	64240	ABCG5	ORPHA:391665
HP:0030148	Heart murmur	64241	ABCG8	ORPHA:391665
HP:0030148	Heart murmur	4625	MYH7	ORPHA:437572
HP:0030148	Heart murmur	6711	SPTBN1	OMIM:619475
HP:0030148	Heart murmur	3423	IDS	ORPHA:217085
HP:0030148	Heart murmur	3423	IDS	ORPHA:217093
HP:0030148	Heart murmur	23394	ADNP	OMIM:615873
HP:0030148	Heart murmur	5828	PEX2	OMIM:614866
HP:0030148	Heart murmur	291	SLC25A4	OMIM:615418
HP:0030148	Heart murmur	171019	ADAMTS19	OMIM:620067
HP:0030148	Heart murmur	2200	FBN1	ORPHA:284979
HP:0030148	Heart murmur	10283	CWC27	ORPHA:166035
HP:0030148	Heart murmur	9896	FIG4	OMIM:216340
HP:0030148	Heart murmur	5932	RBBP8	OMIM:606744
HP:0030148	Heart murmur	1656	DDX6	OMIM:618653
HP:0030148	Heart murmur	2548	GAA	ORPHA:308552
HP:0030148	Heart murmur	29998	BICRA	OMIM:619325
HP:0030148	Heart murmur	23152	CIC	OMIM:617600
HP:0030148	Heart murmur	6595	SMARCA2	ORPHA:2728
HP:0030148	Heart murmur	5573	PRKAR1A	ORPHA:615
HP:0030148	Heart murmur	6392	SDHD	ORPHA:100093
HP:0030148	Heart murmur	4851	NOTCH1	ORPHA:402075
HP:0030148	Heart murmur	1482	NKX2-5	ORPHA:402075
HP:0030148	Heart murmur	140628	GATA5	ORPHA:402075
HP:0030148	Heart murmur	4091	SMAD6	ORPHA:402075
HP:0030148	Heart murmur	79158	GNPTAB	OMIM:252500
HP:0030148	Heart murmur	7092	TLL1	ORPHA:99103
HP:0030148	Heart murmur	7092	TLL1	ORPHA:99106
HP:0030148	Heart murmur	57057	TBX20	ORPHA:99103
HP:0030148	Heart murmur	4624	MYH6	ORPHA:99103
HP:0030148	Heart murmur	70	ACTC1	ORPHA:99103
HP:0030148	Heart murmur	10370	CITED2	ORPHA:99103
HP:0030148	Heart murmur	10370	CITED2	ORPHA:99105
HP:0030148	Heart murmur	2626	GATA4	ORPHA:99103
HP:0030148	Heart murmur	2627	GATA6	ORPHA:99103
HP:0030148	Heart murmur	54914	FOCAD	OMIM:619991
HP:0030148	Heart murmur	7291	TWIST1	OMIM:123100
HP:0030148	Heart murmur	54916	TMEM260	OMIM:617478
HP:0030147	Truncal titubation	1200	TPP1	OMIM:609270
HP:0030147	Truncal titubation	54974	THG1L	OMIM:618800
HP:0030147	Truncal titubation	3708	ITPR1	OMIM:117360
HP:0030147	Truncal titubation	84668	HYCC1	OMIM:610532
HP:0030147	Truncal titubation	28982	FLVCR1	ORPHA:88628
HP:0030147	Truncal titubation	91452	ACBD5	OMIM:618863
HP:0030147	Truncal titubation	80704	SLC19A3	OMIM:607483
HP:0030147	Truncal titubation	221927	BRAT1	OMIM:618056
HP:0030146	Abnormal liver parenchyma morphology	5373	PMM2	ORPHA:79318
HP:0030146	Abnormal liver parenchyma morphology	27031	NPHP3	ORPHA:3032
HP:0030146	Abnormal liver parenchyma morphology	51651	PTRH2	ORPHA:456312
HP:0030146	Abnormal liver parenchyma morphology	56244	BTNL2	ORPHA:797
HP:0030146	Abnormal liver parenchyma morphology	3123	HLA-DRB1	ORPHA:797
HP:0030146	Abnormal liver parenchyma morphology	3716	JAK1	OMIM:618999
HP:0030146	Abnormal liver parenchyma morphology	54914	FOCAD	OMIM:619991
HP:0030146	Abnormal liver parenchyma morphology	10165	SLC25A13	OMIM:603471
HP:0030146	Abnormal liver parenchyma morphology	26276	VPS33B	OMIM:208085
HP:0030146	Abnormal liver parenchyma morphology	168667	BMPER	OMIM:608022
HP:0030145	Lack of bowel sounds	1616	DAXX	ORPHA:100075
HP:0030145	Lack of bowel sounds	546	ATRX	ORPHA:100075
HP:0030145	Lack of bowel sounds	6392	SDHD	ORPHA:100093
HP:0030143	Hyperactive bowel sounds	6523	SLC5A1	OMIM:606824
HP:0030143	Hyperactive bowel sounds	6523	SLC5A1	ORPHA:35710
HP:0030143	Hyperactive bowel sounds	1890	TYMP	OMIM:603041
HP:0030143	Hyperactive bowel sounds	5428	POLG	OMIM:603041
HP:0030151	Cholangitis	9968	MED12	OMIM:301068
HP:0030151	Cholangitis	9742	IFT140	OMIM:266920
HP:0030151	Cholangitis	50615	IL21R	OMIM:615207
HP:0030151	Cholangitis	57539	WDR35	OMIM:613610
HP:0030151	Cholangitis	26525	IL36RN	OMIM:614204
HP:0030151	Cholangitis	83737	ITCH	ORPHA:228426
HP:0030151	Cholangitis	617	BCS1L	OMIM:124000
HP:0030151	Cholangitis	3514	IGKC	ORPHA:183675
HP:0030151	Cholangitis	3501	IGHG2	ORPHA:183675
HP:0030151	Cholangitis	199221	DZIP1L	ORPHA:731
HP:0030151	Cholangitis	5314	PKHD1	ORPHA:731
HP:0030151	Cholangitis	5314	PKHD1	ORPHA:53035
HP:0030151	Cholangitis	9076	CLDN1	OMIM:607626
HP:0030151	Cholangitis	5994	RFXAP	ORPHA:572
HP:0030151	Cholangitis	4261	CIITA	ORPHA:572
HP:0030151	Cholangitis	5993	RFX5	ORPHA:572
HP:0030151	Cholangitis	8625	RFXANK	ORPHA:572
HP:0030151	Cholangitis	5966	REL	OMIM:619652
HP:0030151	Cholangitis	5244	ABCB4	ORPHA:69663
HP:0030151	Cholangitis	51473	DCDC2	OMIM:617394
HP:0030151	Cholangitis	959	CD40LG	OMIM:308230
HP:0030151	Cholangitis	113220	KIF12	OMIM:619662
HP:0030153	Cholangiocarcinoma	654	BMP6	ORPHA:465508
HP:0030153	Cholangiocarcinoma	3077	HFE	ORPHA:465508
HP:0030153	Cholangiocarcinoma	2859	GPR35	ORPHA:171
HP:0030153	Cholangiocarcinoma	10507	SEMA4D	ORPHA:171
HP:0030153	Cholangiocarcinoma	4485	MST1	ORPHA:171
HP:0030153	Cholangiocarcinoma	6925	TCF4	ORPHA:171
HP:0030153	Cholangiocarcinoma	199221	DZIP1L	ORPHA:731
HP:0030153	Cholangiocarcinoma	5314	PKHD1	ORPHA:731
HP:0030153	Cholangiocarcinoma	5314	PKHD1	ORPHA:53035
HP:0030157	Flank pain	811	CALR	ORPHA:824
HP:0030157	Flank pain	4352	MPL	ORPHA:824
HP:0030157	Flank pain	3717	JAK2	ORPHA:824
HP:0030157	Flank pain	54790	TET2	ORPHA:824
HP:0030157	Flank pain	9096	TBX18	OMIM:143400
HP:0030157	Flank pain	353	APRT	ORPHA:976
HP:0030160	Cervicitis	5340	PLG	ORPHA:722
HP:0030162	Glomerulomegaly	2335	FN1	OMIM:601894
HP:0030163	Abnormal vascular physiology	4702	NDUFA8	OMIM:619272
HP:0030163	Abnormal vascular physiology	2294	FOXF1	OMIM:265380
HP:0030163	Abnormal vascular physiology	2294	FOXF1	ORPHA:210122
HP:0030163	Abnormal vascular physiology	4558	MT-TF	ORPHA:550
HP:0030163	Abnormal vascular physiology	4572	MT-TQ	ORPHA:550
HP:0030163	Abnormal vascular physiology	4512	MT-CO1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4513	MT-CO2	ORPHA:550
HP:0030163	Abnormal vascular physiology	4514	MT-CO3	ORPHA:550
HP:0030163	Abnormal vascular physiology	4578	MT-TW	ORPHA:550
HP:0030163	Abnormal vascular physiology	4540	MT-ND5	ORPHA:550
HP:0030163	Abnormal vascular physiology	4541	MT-ND6	ORPHA:550
HP:0030163	Abnormal vascular physiology	4535	MT-ND1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4538	MT-ND4	ORPHA:550
HP:0030163	Abnormal vascular physiology	4567	MT-TL1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4574	MT-TS1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4575	MT-TS2	ORPHA:550
HP:0030163	Abnormal vascular physiology	4564	MT-TH	ORPHA:550
HP:0030163	Abnormal vascular physiology	7428	VHL	OMIM:263400
HP:0030163	Abnormal vascular physiology	79717	PPCS	OMIM:618189
HP:0030163	Abnormal vascular physiology	776	CACNA1D	OMIM:615474
HP:0030163	Abnormal vascular physiology	776	CACNA1D	ORPHA:369929
HP:0030163	Abnormal vascular physiology	498	ATP5F1A	OMIM:616045
HP:0030163	Abnormal vascular physiology	775	CACNA1C	OMIM:620029
HP:0030163	Abnormal vascular physiology	775	CACNA1C	OMIM:601005
HP:0030163	Abnormal vascular physiology	81857	MED25	OMIM:616449
HP:0030163	Abnormal vascular physiology	81857	MED25	ORPHA:464738
HP:0030163	Abnormal vascular physiology	3875	KRT18	OMIM:215600
HP:0030163	Abnormal vascular physiology	8854	ALDH1A2	OMIM:620025
HP:0030163	Abnormal vascular physiology	1235	CCR6	ORPHA:220402
HP:0030163	Abnormal vascular physiology	1235	CCR6	ORPHA:220393
HP:0030163	Abnormal vascular physiology	79932	KIAA0319L	ORPHA:220402
HP:0030163	Abnormal vascular physiology	1490	CCN2	ORPHA:220402
HP:0030163	Abnormal vascular physiology	1490	CCN2	ORPHA:220393
HP:0030163	Abnormal vascular physiology	3663	IRF5	ORPHA:220402
HP:0030163	Abnormal vascular physiology	3663	IRF5	ORPHA:220393
HP:0030163	Abnormal vascular physiology	411	ARSB	OMIM:253200
HP:0030163	Abnormal vascular physiology	10312	TCIRG1	ORPHA:667
HP:0030163	Abnormal vascular physiology	1186	CLCN7	ORPHA:667
HP:0030163	Abnormal vascular physiology	29887	SNX10	ORPHA:667
HP:0030163	Abnormal vascular physiology	8600	TNFSF11	ORPHA:667
HP:0030163	Abnormal vascular physiology	27125	AFF4	ORPHA:444077
HP:0030163	Abnormal vascular physiology	4784	NFIX	ORPHA:447980
HP:0030163	Abnormal vascular physiology	4784	NFIX	OMIM:602535
HP:0030163	Abnormal vascular physiology	55315	SLC29A3	OMIM:602782
HP:0030163	Abnormal vascular physiology	1349	COX7B	OMIM:300887
HP:0030163	Abnormal vascular physiology	23395	LARS2	OMIM:617021
HP:0030163	Abnormal vascular physiology	6440	SFTPC	OMIM:178500
HP:0030163	Abnormal vascular physiology	6440	SFTPC	OMIM:610913
HP:0030163	Abnormal vascular physiology	727897	MUC5B	OMIM:178500
HP:0030163	Abnormal vascular physiology	729238	SFTPA2	OMIM:178500
HP:0030163	Abnormal vascular physiology	51601	LIPT1	OMIM:616299
HP:0030163	Abnormal vascular physiology	3908	LAMA2	ORPHA:258
HP:0030163	Abnormal vascular physiology	9382	COG1	ORPHA:263508
HP:0030163	Abnormal vascular physiology	6439	SFTPB	OMIM:265120
HP:0030163	Abnormal vascular physiology	6439	SFTPB	ORPHA:217563
HP:0030163	Abnormal vascular physiology	1340	COX6B1	OMIM:619051
HP:0030163	Abnormal vascular physiology	65082	VPS33A	ORPHA:505248
HP:0030163	Abnormal vascular physiology	1351	COX8A	OMIM:619059
HP:0030163	Abnormal vascular physiology	50619	DEF6	OMIM:619573
HP:0030163	Abnormal vascular physiology	79572	ATP13A3	OMIM:265400
HP:0030163	Abnormal vascular physiology	8260	NAA10	OMIM:300855
HP:0030163	Abnormal vascular physiology	9469	CHST3	OMIM:143095
HP:0030163	Abnormal vascular physiology	9968	MED12	ORPHA:93932
HP:0030163	Abnormal vascular physiology	92579	G6PC3	OMIM:612541
HP:0030163	Abnormal vascular physiology	56244	BTNL2	OMIM:612387
HP:0030163	Abnormal vascular physiology	2260	FGFR1	ORPHA:2396
HP:0030163	Abnormal vascular physiology	3845	KRAS	ORPHA:2396
HP:0030163	Abnormal vascular physiology	7080	NKX2-1	ORPHA:209905
HP:0030163	Abnormal vascular physiology	55750	AGK	OMIM:212350
HP:0030163	Abnormal vascular physiology	9377	COX5A	OMIM:619064
HP:0030163	Abnormal vascular physiology	9496	TBX4	ORPHA:261279
HP:0030163	Abnormal vascular physiology	9896	FIG4	ORPHA:3472
HP:0030163	Abnormal vascular physiology	9896	FIG4	OMIM:216340
HP:0030163	Abnormal vascular physiology	55697	VAC14	ORPHA:3472
HP:0030163	Abnormal vascular physiology	3977	LIFR	OMIM:601559
HP:0030163	Abnormal vascular physiology	659	BMPR2	OMIM:178600
HP:0030163	Abnormal vascular physiology	659	BMPR2	OMIM:265450
HP:0030163	Abnormal vascular physiology	5826	ABCD4	OMIM:614857
HP:0030163	Abnormal vascular physiology	3425	IDUA	OMIM:607015
HP:0030163	Abnormal vascular physiology	4763	NF1	ORPHA:97685
HP:0030163	Abnormal vascular physiology	760	CA2	ORPHA:2785
HP:0030163	Abnormal vascular physiology	10370	CITED2	ORPHA:99105
HP:0030163	Abnormal vascular physiology	10370	CITED2	ORPHA:99103
HP:0030163	Abnormal vascular physiology	7092	TLL1	ORPHA:99106
HP:0030163	Abnormal vascular physiology	7092	TLL1	ORPHA:99103
HP:0030163	Abnormal vascular physiology	57057	TBX20	ORPHA:99103
HP:0030163	Abnormal vascular physiology	4624	MYH6	ORPHA:99103
HP:0030163	Abnormal vascular physiology	1482	NKX2-5	ORPHA:99103
HP:0030163	Abnormal vascular physiology	70	ACTC1	ORPHA:99103
HP:0030163	Abnormal vascular physiology	2626	GATA4	ORPHA:99103
HP:0030163	Abnormal vascular physiology	2627	GATA6	ORPHA:99103
HP:0030163	Abnormal vascular physiology	2627	GATA6	OMIM:614475
HP:0030163	Abnormal vascular physiology	6772	STAT1	ORPHA:391487
HP:0030163	Abnormal vascular physiology	10043	TOM1	ORPHA:391487
HP:0030163	Abnormal vascular physiology	3572	IL6ST	OMIM:619751
HP:0030163	Abnormal vascular physiology	2261	FGFR3	OMIM:616482
HP:0030163	Abnormal vascular physiology	10664	CTCF	ORPHA:363611
HP:0030163	Abnormal vascular physiology	10526	IPO8	OMIM:619472
HP:0030163	Abnormal vascular physiology	4607	MYBPC3	OMIM:615396
HP:0030163	Abnormal vascular physiology	7414	VCL	OMIM:613255
HP:0030163	Abnormal vascular physiology	29957	SLC25A24	OMIM:612289
HP:0030163	Abnormal vascular physiology	57514	ARHGAP31	OMIM:100300
HP:0030163	Abnormal vascular physiology	57514	ARHGAP31	ORPHA:974
HP:0030163	Abnormal vascular physiology	8085	KMT2D	OMIM:620186
HP:0030163	Abnormal vascular physiology	23556	PIGN	ORPHA:280633
HP:0030163	Abnormal vascular physiology	3043	HBB	ORPHA:231222
HP:0030163	Abnormal vascular physiology	4716	NDUFB10	OMIM:619003
HP:0030163	Abnormal vascular physiology	2629	GBA1	OMIM:230800
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:2072
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:77261
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:77259
HP:0030163	Abnormal vascular physiology	374879	ZNF699	OMIM:619488
HP:0030163	Abnormal vascular physiology	27086	FOXP1	ORPHA:391372
HP:0030163	Abnormal vascular physiology	4256	MGP	ORPHA:85202
HP:0030163	Abnormal vascular physiology	8292	COLQ	ORPHA:98915
HP:0030163	Abnormal vascular physiology	3913	LAMB2	ORPHA:98915
HP:0030163	Abnormal vascular physiology	388015	RTL1	ORPHA:96334
HP:0030163	Abnormal vascular physiology	8788	DLK1	ORPHA:96334
HP:0030163	Abnormal vascular physiology	55384	MEG3	ORPHA:96334
HP:0030163	Abnormal vascular physiology	10551	AGR2	OMIM:620233
HP:0030163	Abnormal vascular physiology	3516	RBPJ	ORPHA:974
HP:0030163	Abnormal vascular physiology	4851	NOTCH1	ORPHA:974
HP:0030163	Abnormal vascular physiology	4851	NOTCH1	OMIM:616028
HP:0030163	Abnormal vascular physiology	57572	DOCK6	ORPHA:974
HP:0030163	Abnormal vascular physiology	285203	EOGT	ORPHA:974
HP:0030163	Abnormal vascular physiology	54567	DLL4	ORPHA:974
HP:0030163	Abnormal vascular physiology	2658	GDF2	ORPHA:774
HP:0030163	Abnormal vascular physiology	6123	RPL3L	OMIM:619371
HP:0030163	Abnormal vascular physiology	79989	IFT56	OMIM:619534
HP:0030163	Abnormal vascular physiology	8815	BANF1	OMIM:614008
HP:0030163	Abnormal vascular physiology	5236	PGM1	OMIM:614921
HP:0030163	Abnormal vascular physiology	25974	MMACHC	ORPHA:79282
HP:0030163	Abnormal vascular physiology	5557	PRIM1	OMIM:620005
HP:0030163	Abnormal vascular physiology	64127	NOD2	ORPHA:90340
HP:0030163	Abnormal vascular physiology	55901	THSD1	OMIM:620244
HP:0030163	Abnormal vascular physiology	3339	HSPG2	ORPHA:800
HP:0030163	Abnormal vascular physiology	27247	NFU1	OMIM:605711
HP:0030163	Abnormal vascular physiology	8295	TRRAP	OMIM:618454
HP:0030163	Abnormal vascular physiology	93233	ODAD1	OMIM:615067
HP:0030163	Abnormal vascular physiology	4093	SMAD9	OMIM:615342
HP:0030163	Abnormal vascular physiology	51025	PAM16	OMIM:613320
HP:0030163	Abnormal vascular physiology	2316	FLNA	OMIM:309350
HP:0030163	Abnormal vascular physiology	23590	PDSS1	OMIM:614651
HP:0030163	Abnormal vascular physiology	7319	UBE2A	ORPHA:163956
HP:0030163	Abnormal vascular physiology	54938	SARS2	OMIM:613845
HP:0030163	Abnormal vascular physiology	389827	MYMK	OMIM:254940
HP:0030163	Abnormal vascular physiology	950	SCARB2	ORPHA:77259
HP:0030163	Abnormal vascular physiology	94	ACVRL1	OMIM:600376
HP:0030163	Abnormal vascular physiology	4854	NOTCH3	ORPHA:136
HP:0030163	Abnormal vascular physiology	51816	ADA2	OMIM:182410
HP:0030163	Abnormal vascular physiology	2022	ENG	OMIM:187300
HP:0030163	Abnormal vascular physiology	81031	SLC2A10	OMIM:208050
HP:0030163	Abnormal vascular physiology	6651	SON	ORPHA:500150
HP:0030163	Abnormal vascular physiology	2982	GUCY1A1	OMIM:615750
HP:0030163	Abnormal vascular physiology	3717	JAK2	OMIM:614521
HP:0030163	Abnormal vascular physiology	50485	SMARCAL1	ORPHA:1830
HP:0030163	Abnormal vascular physiology	6331	SCN5A	ORPHA:1344
HP:0030163	Abnormal vascular physiology	4878	NPPA	ORPHA:1344
HP:0030163	Abnormal vascular physiology	2783	GNB2	OMIM:619503
HP:0030163	Abnormal vascular physiology	79184	BRCC3	ORPHA:280679
HP:0030163	Abnormal vascular physiology	1282	COL4A1	OMIM:175780
HP:0030163	Abnormal vascular physiology	4629	MYH11	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7046	TGFBR1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7048	TGFBR2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4015	LOX	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4087	SMAD2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7043	TGFB3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4088	SMAD3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7042	TGFB2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4089	SMAD4	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2200	FBN1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	59	ACTA2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	5592	PRKG1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2301	FOXE3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4144	MAT2A	ORPHA:91387
HP:0030163	Abnormal vascular physiology	23493	HEY2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	8076	MFAP5	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4638	MYLK	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2006	ELN	ORPHA:91387
HP:0030163	Abnormal vascular physiology	6005	RHAG	OMIM:185000
HP:0030163	Abnormal vascular physiology	2162	F13A1	OMIM:188050
HP:0030163	Abnormal vascular physiology	2147	F2	OMIM:188050
HP:0030163	Abnormal vascular physiology	3026	HABP2	OMIM:188050
HP:0030163	Abnormal vascular physiology	4524	MTHFR	OMIM:188050
HP:0030163	Abnormal vascular physiology	7056	THBD	OMIM:614486
HP:0030163	Abnormal vascular physiology	5624	PROC	OMIM:612304
HP:0030163	Abnormal vascular physiology	5624	PROC	ORPHA:745
HP:0030163	Abnormal vascular physiology	5624	PROC	OMIM:176860
HP:0030163	Abnormal vascular physiology	55109	AGGF1	ORPHA:90308
HP:0030163	Abnormal vascular physiology	5627	PROS1	ORPHA:743
HP:0030163	Abnormal vascular physiology	5627	PROS1	OMIM:614514
HP:0030163	Abnormal vascular physiology	5627	PROS1	OMIM:612336
HP:0030163	Abnormal vascular physiology	2776	GNAQ	ORPHA:624
HP:0030163	Abnormal vascular physiology	2776	GNAQ	ORPHA:3205
HP:0030163	Abnormal vascular physiology	5728	PTEN	ORPHA:744
HP:0030163	Abnormal vascular physiology	207	AKT1	ORPHA:744
HP:0030163	Abnormal vascular physiology	5354	PLP1	ORPHA:99015
HP:0030163	Abnormal vascular physiology	3762	KCNJ5	OMIM:613485
HP:0030163	Abnormal vascular physiology	2157	F8	OMIM:301071
HP:0030163	Abnormal vascular physiology	2717	GLA	OMIM:301500
HP:0030163	Abnormal vascular physiology	2717	GLA	ORPHA:324
HP:0030163	Abnormal vascular physiology	71	ACTG1	ORPHA:2995
HP:0030163	Abnormal vascular physiology	60	ACTB	ORPHA:2995
HP:0030163	Abnormal vascular physiology	10019	SH2B3	ORPHA:3318
HP:0030163	Abnormal vascular physiology	811	CALR	ORPHA:3318
HP:0030163	Abnormal vascular physiology	57674	RNF213	OMIM:607151
HP:0030163	Abnormal vascular physiology	11093	ADAMTS13	OMIM:274150
HP:0030163	Abnormal vascular physiology	7049	TGFBR3	ORPHA:231160
HP:0030163	Abnormal vascular physiology	83854	ANGPTL6	ORPHA:231160
HP:0030163	Abnormal vascular physiology	26191	PTPN22	ORPHA:397
HP:0030163	Abnormal vascular physiology	26191	PTPN22	ORPHA:900
HP:0030163	Abnormal vascular physiology	3106	HLA-B	ORPHA:397
HP:0030163	Abnormal vascular physiology	3106	HLA-B	ORPHA:3287
HP:0030163	Abnormal vascular physiology	3106	HLA-B	ORPHA:117
HP:0030163	Abnormal vascular physiology	3123	HLA-DRB1	ORPHA:397
HP:0030163	Abnormal vascular physiology	8974	P4HA2	ORPHA:397
HP:0030163	Abnormal vascular physiology	7066	THPO	ORPHA:71493
HP:0030163	Abnormal vascular physiology	875	CBS	ORPHA:394
HP:0030163	Abnormal vascular physiology	5290	PIK3CA	ORPHA:60040
HP:0030163	Abnormal vascular physiology	162417	NAGS	ORPHA:927
HP:0030163	Abnormal vascular physiology	4625	MYH7	ORPHA:1880
HP:0030163	Abnormal vascular physiology	6804	STX1A	ORPHA:904
HP:0030163	Abnormal vascular physiology	7461	CLIP2	ORPHA:904
HP:0030163	Abnormal vascular physiology	84277	DNAJC30	ORPHA:904
HP:0030163	Abnormal vascular physiology	8468	FKBP6	ORPHA:904
HP:0030163	Abnormal vascular physiology	5982	RFC2	ORPHA:904
HP:0030163	Abnormal vascular physiology	2969	GTF2I	ORPHA:904
HP:0030163	Abnormal vascular physiology	3984	LIMK1	ORPHA:904
HP:0030163	Abnormal vascular physiology	9569	GTF2IRD1	ORPHA:904
HP:0030163	Abnormal vascular physiology	155382	VPS37D	ORPHA:904
HP:0030163	Abnormal vascular physiology	155368	METTL27	ORPHA:904
HP:0030163	Abnormal vascular physiology	114049	BUD23	ORPHA:904
HP:0030163	Abnormal vascular physiology	7458	EIF4H	ORPHA:904
HP:0030163	Abnormal vascular physiology	84163	GTF2IRD2	ORPHA:904
HP:0030163	Abnormal vascular physiology	9275	BCL7B	ORPHA:904
HP:0030163	Abnormal vascular physiology	26608	TBL2	ORPHA:904
HP:0030163	Abnormal vascular physiology	653361	NCF1	ORPHA:904
HP:0030163	Abnormal vascular physiology	135886	TMEM270	ORPHA:904
HP:0030163	Abnormal vascular physiology	51085	MLXIPL	ORPHA:904
HP:0030163	Abnormal vascular physiology	9031	BAZ1B	ORPHA:904
HP:0030163	Abnormal vascular physiology	6340	SCNN1G	ORPHA:526
HP:0030163	Abnormal vascular physiology	6338	SCNN1B	ORPHA:526
HP:0030163	Abnormal vascular physiology	6337	SCNN1A	ORPHA:526
HP:0030163	Abnormal vascular physiology	3593	IL12B	ORPHA:3287
HP:0030163	Abnormal vascular physiology	6945	MLX	ORPHA:3287
HP:0030163	Abnormal vascular physiology	1493	CTLA4	ORPHA:900
HP:0030163	Abnormal vascular physiology	3115	HLA-DPB1	ORPHA:900
HP:0030163	Abnormal vascular physiology	5657	PRTN3	ORPHA:900
HP:0030163	Abnormal vascular physiology	3113	HLA-DPA1	ORPHA:900
HP:0030163	Abnormal vascular physiology	8517	IKBKG	ORPHA:464
HP:0030163	Abnormal vascular physiology	351	APP	OMIM:605714
HP:0030163	Abnormal vascular physiology	2050	EPHB4	ORPHA:137667
HP:0030163	Abnormal vascular physiology	149233	IL23R	ORPHA:117
HP:0030163	Abnormal vascular physiology	6775	STAT4	ORPHA:117
HP:0030163	Abnormal vascular physiology	3586	IL10	ORPHA:117
HP:0030163	Abnormal vascular physiology	4210	MEFV	ORPHA:117
HP:0030163	Abnormal vascular physiology	1230	CCR1	ORPHA:117
HP:0030163	Abnormal vascular physiology	355	FAS	ORPHA:117
HP:0030163	Abnormal vascular physiology	3592	IL12A	ORPHA:117
HP:0030163	Abnormal vascular physiology	101928376	IL12A-AS1	ORPHA:117
HP:0030163	Abnormal vascular physiology	7099	TLR4	ORPHA:117
HP:0030163	Abnormal vascular physiology	3459	IFNGR1	ORPHA:117
HP:0030163	Abnormal vascular physiology	720	C4A	ORPHA:117
HP:0030163	Abnormal vascular physiology	337867	UBAC2	ORPHA:117
HP:0030163	Abnormal vascular physiology	51752	ERAP1	ORPHA:117
HP:0030163	Abnormal vascular physiology	8302	KLRC4	ORPHA:117
HP:0030163	Abnormal vascular physiology	1499	CTNNB1	ORPHA:54595
HP:0030163	Abnormal vascular physiology	2153	F5	OMIM:600880
HP:0030163	Abnormal vascular physiology	4352	MPL	ORPHA:729
HP:0030163	Abnormal vascular physiology	54790	TET2	ORPHA:729
HP:0030163	Abnormal vascular physiology	26277	TINF2	OMIM:127550
HP:0030163	Abnormal vascular physiology	7012	TERC	OMIM:127550
HP:0030163	Abnormal vascular physiology	7015	TERT	OMIM:127550
HP:0030163	Abnormal vascular physiology	1604	CD55	OMIM:226300
HP:0030163	Abnormal vascular physiology	5277	PIGA	ORPHA:447
HP:0030163	Abnormal vascular physiology	3777	KCNK3	OMIM:615344
HP:0030163	Abnormal vascular physiology	440275	EIF2AK4	ORPHA:199241
HP:0030163	Abnormal vascular physiology	857	CAV1	OMIM:615343
HP:0030163	Abnormal vascular physiology	10568	SLC34A2	ORPHA:60025
HP:0030163	Abnormal vascular physiology	84196	USP48	ORPHA:96253
HP:0030163	Abnormal vascular physiology	7157	TP53	ORPHA:96253
HP:0030163	Abnormal vascular physiology	9101	USP8	ORPHA:96253
HP:0030163	Abnormal vascular physiology	64072	CDH23	ORPHA:96253
HP:0030163	Abnormal vascular physiology	2908	NR3C1	ORPHA:96253
HP:0030163	Abnormal vascular physiology	673	BRAF	ORPHA:96253
HP:0030163	Abnormal vascular physiology	546	ATRX	ORPHA:96253
HP:0030163	Abnormal vascular physiology	7512	XPNPEP2	ORPHA:100057
HP:0030163	Abnormal vascular physiology	1281	COL3A1	OMIM:130050
HP:0030163	Abnormal vascular physiology	1277	COL1A1	ORPHA:287
HP:0030163	Abnormal vascular physiology	1277	COL1A1	OMIM:619115
HP:0030163	Abnormal vascular physiology	1289	COL5A1	ORPHA:287
HP:0030163	Abnormal vascular physiology	1290	COL5A2	ORPHA:287
HP:0030163	Abnormal vascular physiology	5351	PLOD1	OMIM:225400
HP:0030163	Abnormal vascular physiology	5351	PLOD1	ORPHA:1900
HP:0030163	Abnormal vascular physiology	1278	COL1A2	OMIM:619120
HP:0030163	Abnormal vascular physiology	55033	FKBP14	ORPHA:300179
HP:0030163	Abnormal vascular physiology	8985	PLOD3	OMIM:612394
HP:0030163	Abnormal vascular physiology	189	AGXT	OMIM:259900
HP:0030163	Abnormal vascular physiology	462	SERPINC1	OMIM:613118
HP:0030163	Abnormal vascular physiology	4907	NT5E	ORPHA:289601
HP:0030163	Abnormal vascular physiology	7840	ALMS1	ORPHA:64
HP:0030163	Abnormal vascular physiology	3932	LCK	OMIM:615758
HP:0030163	Abnormal vascular physiology	2492	FSHR	ORPHA:64739
HP:0030163	Abnormal vascular physiology	654	BMP6	ORPHA:465508
HP:0030163	Abnormal vascular physiology	3077	HFE	ORPHA:465508
HP:0030163	Abnormal vascular physiology	6261	RYR1	ORPHA:466650
HP:0030163	Abnormal vascular physiology	213	ALB	ORPHA:86816
HP:0030163	Abnormal vascular physiology	54	ACP5	OMIM:607944
HP:0030163	Abnormal vascular physiology	54	ACP5	ORPHA:1855
HP:0030163	Abnormal vascular physiology	54941	RNF125	OMIM:616260
HP:0030163	Abnormal vascular physiology	3930	LBR	OMIM:613471
HP:0030163	Abnormal vascular physiology	11277	TREX1	OMIM:192315
HP:0030163	Abnormal vascular physiology	11277	TREX1	OMIM:610448
HP:0030163	Abnormal vascular physiology	11277	TREX1	ORPHA:247691
HP:0030163	Abnormal vascular physiology	11277	TREX1	ORPHA:51
HP:0030163	Abnormal vascular physiology	340061	STING1	OMIM:615934
HP:0030163	Abnormal vascular physiology	27235	COQ2	ORPHA:227510
HP:0030163	Abnormal vascular physiology	27235	COQ2	ORPHA:98933
HP:0030163	Abnormal vascular physiology	6696	SPP1	ORPHA:93552
HP:0030163	Abnormal vascular physiology	3654	IRAK1	ORPHA:93552
HP:0030163	Abnormal vascular physiology	3265	HRAS	ORPHA:2874
HP:0030163	Abnormal vascular physiology	51284	TLR7	OMIM:301080
HP:0030163	Abnormal vascular physiology	4000	LMNA	ORPHA:740
HP:0030163	Abnormal vascular physiology	10269	ZMPSTE24	ORPHA:740
HP:0030163	Abnormal vascular physiology	10535	RNASEH2A	ORPHA:51
HP:0030163	Abnormal vascular physiology	84153	RNASEH2C	ORPHA:51
HP:0030163	Abnormal vascular physiology	25939	SAMHD1	ORPHA:51
HP:0030163	Abnormal vascular physiology	79621	RNASEH2B	ORPHA:51
HP:0030163	Abnormal vascular physiology	103	ADAR	ORPHA:51
HP:0030163	Abnormal vascular physiology	100147744	RNU7-1	ORPHA:51
HP:0030163	Abnormal vascular physiology	134353	LSM11	ORPHA:51
HP:0030163	Abnormal vascular physiology	64135	IFIH1	ORPHA:51
HP:0030163	Abnormal vascular physiology	1188	CLCNKB	ORPHA:358
HP:0030163	Abnormal vascular physiology	6559	SLC12A3	ORPHA:358
HP:0030163	Abnormal vascular physiology	84665	MYPN	ORPHA:75249
HP:0030163	Abnormal vascular physiology	2318	FLNC	ORPHA:75249
HP:0030163	Abnormal vascular physiology	7139	TNNT2	ORPHA:75249
HP:0030163	Abnormal vascular physiology	7137	TNNI3	ORPHA:75249
HP:0030163	Abnormal vascular physiology	10112	KIF20A	ORPHA:75249
HP:0030163	Abnormal vascular physiology	6521	SLC4A1	ORPHA:3202
HP:0030163	Abnormal vascular physiology	9780	PIEZO1	ORPHA:3202
HP:0030163	Abnormal vascular physiology	3783	KCNN4	ORPHA:3202
HP:0030163	Abnormal vascular physiology	2542	SLC37A4	ORPHA:79259
HP:0030163	Abnormal vascular physiology	5654	HTRA1	OMIM:600142
HP:0030163	Abnormal vascular physiology	5654	HTRA1	OMIM:616779
HP:0030163	Abnormal vascular physiology	79709	COLGALT1	OMIM:618360
HP:0030163	Abnormal vascular physiology	4668	NAGA	OMIM:609242
HP:0030163	Abnormal vascular physiology	5286	PIK3C2A	OMIM:618440
HP:0030163	Abnormal vascular physiology	64131	XYLT1	OMIM:264800
HP:0030163	Abnormal vascular physiology	64132	XYLT2	OMIM:264800
HP:0030163	Abnormal vascular physiology	368	ABCC6	OMIM:264800
HP:0030163	Abnormal vascular physiology	368	ABCC6	ORPHA:51608
HP:0030163	Abnormal vascular physiology	5167	ENPP1	ORPHA:51608
HP:0030163	Abnormal vascular physiology	5921	RASA1	ORPHA:90307
HP:0030166	Night sweats	7317	UBA1	OMIM:301054
HP:0030166	Night sweats	182	JAG1	OMIM:619574
HP:0030166	Night sweats	4665	NAB2	ORPHA:2126
HP:0030166	Night sweats	6778	STAT6	ORPHA:2126
HP:0030166	Night sweats	3459	IFNGR1	OMIM:209950
HP:0030166	Night sweats	10165	SLC25A13	ORPHA:247585
HP:0030166	Night sweats	2624	GATA2	ORPHA:98827
HP:0030166	Night sweats	6392	SDHD	ORPHA:100093
HP:0030166	Night sweats	9256	TSPOAP1	ORPHA:101150
HP:0030166	Night sweats	7054	TH	ORPHA:101150
HP:0030166	Night sweats	596	BCL2	ORPHA:545
HP:0030166	Night sweats	3492	IGH	ORPHA:545
HP:0030166	Night sweats	3123	HLA-DRB1	ORPHA:545
HP:0030166	Night sweats	604	BCL6	ORPHA:545
HP:0030167	Antimitochondrial antibody positivity	919	CD247	OMIM:610163
HP:0030167	Antimitochondrial antibody positivity	3930	LBR	OMIM:613471
HP:0030168	Dilated superficial abdominal veins	2859	GPR35	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	10507	SEMA4D	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	4485	MST1	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	6925	TCF4	ORPHA:171
HP:0030169	Gastric varix	9968	MED12	OMIM:301068
HP:0030169	Gastric varix	5265	SERPINA1	OMIM:613490
HP:0030173	Peripheral hypermyelination	5376	PMP22	OMIM:118220
HP:0030173	Peripheral hypermyelination	4747	NEFL	OMIM:607734
HP:0030173	Peripheral hypermyelination	6305	SBF1	OMIM:615284
HP:0030173	Peripheral hypermyelination	81846	SBF2	ORPHA:99956
HP:0030173	Peripheral hypermyelination	4359	MPZ	OMIM:118200
HP:0030173	Peripheral hypermyelination	6663	SOX10	OMIM:609136
HP:0030173	Peripheral hypermyelination	8898	MTMR2	OMIM:601382
HP:0030173	Peripheral hypermyelination	1959	EGR2	OMIM:145900
HP:0030173	Peripheral hypermyelination	57716	PRX	OMIM:145900
HP:0030175	Myelin tomacula	4359	MPZ	OMIM:145900
HP:0030175	Myelin tomacula	5376	PMP22	OMIM:145900
HP:0030175	Myelin tomacula	1959	EGR2	OMIM:145900
HP:0030175	Myelin tomacula	57716	PRX	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	79784	MYH14	ORPHA:397744
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9131	AIFM1	ORPHA:101078
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309256
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309271
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309263
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	OMIM:250100
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5190	PEX6	OMIM:614863
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9782	MATR3	OMIM:606070
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9782	MATR3	ORPHA:600
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7167	TPI1	ORPHA:868
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10516	FBLN5	OMIM:608895
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6305	SBF1	OMIM:615284
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23114	NFASC	OMIM:618356
HP:0030177	Abnormality of peripheral nervous system electrophysiology	25814	ATXN10	OMIM:603516
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5165	PDK3	ORPHA:352675
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1130	LYST	OMIM:214500
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1130	LYST	ORPHA:167
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3508	IGHMBP2	OMIM:604320
HP:0030177	Abnormality of peripheral nervous system electrophysiology	540	ATP7B	OMIM:277900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10166	SLC25A15	OMIM:238970
HP:0030177	Abnormality of peripheral nervous system electrophysiology	87178	PNPT1	ORPHA:319514
HP:0030177	Abnormality of peripheral nervous system electrophysiology	87178	PNPT1	OMIM:614932
HP:0030177	Abnormality of peripheral nervous system electrophysiology	219285	SAMD9L	OMIM:159550
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3295	HSD17B4	OMIM:261515
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9639	ARHGEF10	OMIM:608236
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2200	FBN1	ORPHA:969
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4054	LTBP3	ORPHA:969
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26090	ABHD12	OMIM:612674
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2071	ERCC3	OMIM:610651
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3908	LAMA2	OMIM:618138
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0030177	Abnormality of peripheral nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0030177	Abnormality of peripheral nervous system electrophysiology	285362	SUMF1	ORPHA:585
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4914	NTRK1	ORPHA:642
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5354	PLP1	ORPHA:280234
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10342	TFG	ORPHA:431329
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51324	SPG21	ORPHA:101001
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9150	CTDP1	ORPHA:48431
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65250	CPLANE1	ORPHA:65684
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57562	CEP126	ORPHA:65684
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9342	SNAP29	ORPHA:66631
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1161	ERCC8	ORPHA:90324
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1161	ERCC8	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2074	ERCC6	ORPHA:90324
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2074	ERCC6	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0030177	Abnormality of peripheral nervous system electrophysiology	100134444	KCNJ18	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	779	CACNA1S	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50846	DHH	ORPHA:168563
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2072	ERCC4	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	OMIM:162500
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	OMIM:118300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	OMIM:118220
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	OMIM:180800
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	ORPHA:640
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	ORPHA:3115
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	ORPHA:101081
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	OMIM:618184
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	OMIM:180800
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	OMIM:118200
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	ORPHA:3115
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4000	LMNA	OMIM:605588
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4000	LMNA	ORPHA:98856
HP:0030177	Abnormality of peripheral nervous system electrophysiology	11284	PNKP	OMIM:605589
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81857	MED25	OMIM:605589
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7384	UQCRC1	OMIM:619279
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8506	CNTNAP1	OMIM:618186
HP:0030177	Abnormality of peripheral nervous system electrophysiology	22948	CCT5	ORPHA:139578
HP:0030177	Abnormality of peripheral nervous system electrophysiology	22948	CCT5	OMIM:256840
HP:0030177	Abnormality of peripheral nervous system electrophysiology	22880	MORC2	OMIM:616688
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7415	VCP	OMIM:616687
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9927	MFN2	OMIM:609260
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9927	MFN2	OMIM:601152
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50717	DCAF8	OMIM:610100
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4747	NEFL	OMIM:607684
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4747	NEFL	OMIM:607734
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3315	HSPB1	OMIM:606595
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9990	SLC12A6	OMIM:620068
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9990	SLC12A6	OMIM:218000
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7879	RAB7A	OMIM:600882
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57165	GJC2	OMIM:608804
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:607678
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:605253
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	OMIM:607831
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	OMIM:607706
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	OMIM:214400
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56704	JPH1	OMIM:607831
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23095	KIF1B	OMIM:118210
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6652	SORD	OMIM:618912
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65055	REEP1	OMIM:614751
HP:0030177	Abnormality of peripheral nervous system electrophysiology	90678	LRSAM1	OMIM:614436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3710	ITPR3	OMIM:620111
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81846	SBF2	OMIM:604563
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8565	YARS1	OMIM:608323
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9516	LITAF	OMIM:601098
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26278	SACS	OMIM:270550
HP:0030177	Abnormality of peripheral nervous system electrophysiology	100996717	NOTCH2NLC	OMIM:603472
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5428	POLG	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1890	TYMP	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3980	LIG3	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50484	RRM2B	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10558	SPTLC1	OMIM:162400
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10280	SIGMAR1	OMIM:605726
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23250	ATP11A	OMIM:619851
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23321	TRIM2	OMIM:615490
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57449	PLEKHG5	OMIM:615376
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81545	FBXO38	OMIM:615575
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0030177	Abnormality of peripheral nervous system electrophysiology	259232	NALCN	OMIM:615419
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26580	BSCL2	OMIM:270685
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3098	HK1	ORPHA:99953
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3098	HK1	OMIM:605285
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10397	NDRG1	ORPHA:99950
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5611	DNAJC3	OMIM:616192
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84842	HPDL	OMIM:619026
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2705	GJB1	OMIM:302800
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9517	SPTLC2	OMIM:613640
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57716	PRX	OMIM:614895
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57716	PRX	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	16	AARS1	OMIM:613287
HP:0030177	Abnormality of peripheral nervous system electrophysiology	128637	TBC1D20	OMIM:615663
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55775	TDP1	OMIM:607250
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84668	HYCC1	OMIM:610532
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23064	SETX	OMIM:606002
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9896	FIG4	OMIM:611228
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6342	SCP2	OMIM:613724
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2395	FXN	ORPHA:95
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6310	ATXN1	OMIM:164400
HP:0030177	Abnormality of peripheral nervous system electrophysiology	121512	FGD4	OMIM:609311
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54463	RETREG1	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65125	WNK1	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	547	KIF1A	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55768	NGLY1	OMIM:615273
HP:0030177	Abnormality of peripheral nervous system electrophysiology	91574	MTRFR	ORPHA:320375
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0030177	Abnormality of peripheral nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206443
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206448
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0030177	Abnormality of peripheral nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1593	CYP27A1	ORPHA:909
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4976	OPA1	OMIM:125250
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23230	VPS13A	ORPHA:2388
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8449	DHX16	OMIM:618733
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26353	HSPB8	OMIM:608673
HP:0030177	Abnormality of peripheral nervous system electrophysiology	25923	ATL3	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51062	ATL1	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57465	TBC1D24	OMIM:608105
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57465	TBC1D24	ORPHA:163727
HP:0030177	Abnormality of peripheral nervous system electrophysiology	59341	TRPV4	OMIM:606071
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5981	RFC1	OMIM:614575
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4358	MPV17	OMIM:618400
HP:0030177	Abnormality of peripheral nervous system electrophysiology	127833	SYT2	OMIM:616040
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10049	DNAJB6	OMIM:603511
HP:0030177	Abnormality of peripheral nervous system electrophysiology	11117	EMILIN1	OMIM:620080
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6843	VAMP1	OMIM:618323
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5375	PMP2	OMIM:618279
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7317	UBA1	OMIM:301830
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57863	CADM3	OMIM:619519
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3735	KARS1	OMIM:613641
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57679	ALS2	OMIM:606353
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93474
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93473
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93476
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10935	PRDX3	OMIM:619862
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6335	SCN9A	OMIM:243000
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10743	RAI1	OMIM:182290
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84466	MEGF10	OMIM:614399
HP:0030177	Abnormality of peripheral nervous system electrophysiology	60482	SLC5A7	OMIM:158580
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2617	GARS1	ORPHA:139536
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8560	DEGS1	OMIM:618404
HP:0030177	Abnormality of peripheral nervous system electrophysiology	400916	CHCHD10	ORPHA:276435
HP:0030177	Abnormality of peripheral nervous system electrophysiology	28982	FLVCR1	ORPHA:88628
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7274	TTPA	OMIM:277460
HP:0030177	Abnormality of peripheral nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0030178	Abnormality of central nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0030178	Abnormality of central nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0030178	Abnormality of central nervous system electrophysiology	57465	TBC1D24	ORPHA:352596
HP:0030178	Abnormality of central nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0030178	Abnormality of central nervous system electrophysiology	27286	SRPX2	ORPHA:1945
HP:0030178	Abnormality of central nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0030178	Abnormality of central nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0030178	Abnormality of central nervous system electrophysiology	2218	FKTN	ORPHA:272
HP:0030178	Abnormality of central nervous system electrophysiology	2218	FKTN	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	23446	SLC44A1	OMIM:618868
HP:0030178	Abnormality of central nervous system electrophysiology	3265	HRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	3845	KRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	3845	KRAS	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	4893	NRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	60684	TRAPPC11	OMIM:615356
HP:0030178	Abnormality of central nervous system electrophysiology	55624	POMGNT1	OMIM:253280
HP:0030178	Abnormality of central nervous system electrophysiology	55624	POMGNT1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	10667	FARS2	OMIM:614946
HP:0030178	Abnormality of central nervous system electrophysiology	4047	LSS	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	197	AHSG	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	3694	ITGB6	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	51	ACOX1	ORPHA:2971
HP:0030178	Abnormality of central nervous system electrophysiology	23126	POGZ	ORPHA:468678
HP:0030178	Abnormality of central nervous system electrophysiology	54209	TREM2	OMIM:618193
HP:0030178	Abnormality of central nervous system electrophysiology	387119	CEP85L	OMIM:618873
HP:0030178	Abnormality of central nervous system electrophysiology	387787	LIPT2	OMIM:617668
HP:0030178	Abnormality of central nervous system electrophysiology	27245	AHDC1	ORPHA:412069
HP:0030178	Abnormality of central nervous system electrophysiology	166378	AFG2A	OMIM:616577
HP:0030178	Abnormality of central nervous system electrophysiology	100996717	NOTCH2NLC	ORPHA:2289
HP:0030178	Abnormality of central nervous system electrophysiology	25914	RTTN	OMIM:614833
HP:0030178	Abnormality of central nervous system electrophysiology	2314	FLII	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	ORPHA:1713
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	OMIM:182290
HP:0030178	Abnormality of central nervous system electrophysiology	10522	DEAF1	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10522	DEAF1	OMIM:617171
HP:0030178	Abnormality of central nervous system electrophysiology	5818	NECTIN1	ORPHA:3253
HP:0030178	Abnormality of central nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0030178	Abnormality of central nervous system electrophysiology	55768	NGLY1	ORPHA:404454
HP:0030178	Abnormality of central nervous system electrophysiology	284403	WDR62	OMIM:604317
HP:0030178	Abnormality of central nervous system electrophysiology	1185	CLCN6	OMIM:619173
HP:0030178	Abnormality of central nervous system electrophysiology	6023	RMRP	ORPHA:175
HP:0030178	Abnormality of central nervous system electrophysiology	5105	PCK1	OMIM:261680
HP:0030178	Abnormality of central nervous system electrophysiology	6844	VAMP2	OMIM:618760
HP:0030178	Abnormality of central nervous system electrophysiology	10939	AFG3L2	ORPHA:313772
HP:0030178	Abnormality of central nervous system electrophysiology	9839	ZEB2	ORPHA:261552
HP:0030178	Abnormality of central nervous system electrophysiology	9839	ZEB2	ORPHA:261537
HP:0030178	Abnormality of central nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0030178	Abnormality of central nervous system electrophysiology	23461	ABCA5	ORPHA:2026
HP:0030178	Abnormality of central nervous system electrophysiology	2783	GNB2	OMIM:619503
HP:0030178	Abnormality of central nervous system electrophysiology	26057	ANKRD17	OMIM:619504
HP:0030178	Abnormality of central nervous system electrophysiology	53834	FGFRL1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	1487	CTBP1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	3954	LETM1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	7468	NSD2	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	383	ARG1	ORPHA:90
HP:0030178	Abnormality of central nervous system electrophysiology	7915	ALDH5A1	OMIM:271980
HP:0030178	Abnormality of central nervous system electrophysiology	9255	AIMP1	OMIM:260600
HP:0030178	Abnormality of central nervous system electrophysiology	79753	SNIP1	OMIM:614501
HP:0030178	Abnormality of central nervous system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0030178	Abnormality of central nervous system electrophysiology	5590	PRKCZ	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	23013	SPEN	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	8510	MMP23B	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	7798	LUZP1	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	6497	SKI	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	10630	PDPN	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	3339	HSPG2	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	10277	UBE4B	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	8514	KCNAB2	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	473	RERE	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	63976	PRDM16	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	54897	CASZ1	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	OMIM:105830
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	OMIM:209850
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	ORPHA:411515
HP:0030178	Abnormality of central nervous system electrophysiology	148789	B3GALNT2	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	29925	GMPPB	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	79147	FKRP	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	9215	LARGE1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	29954	POMT2	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	10585	POMT1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	8905	AP1S2	ORPHA:85329
HP:0030178	Abnormality of central nervous system electrophysiology	4094	MAF	ORPHA:1272
HP:0030178	Abnormality of central nervous system electrophysiology	8733	GPAA1	ORPHA:529665
HP:0030178	Abnormality of central nervous system electrophysiology	8733	GPAA1	OMIM:617810
HP:0030178	Abnormality of central nervous system electrophysiology	27086	FOXP1	ORPHA:391372
HP:0030178	Abnormality of central nervous system electrophysiology	2232	FDXR	ORPHA:543470
HP:0030178	Abnormality of central nervous system electrophysiology	200424	TET3	OMIM:618798
HP:0030178	Abnormality of central nervous system electrophysiology	29110	TBK1	OMIM:617900
HP:0030178	Abnormality of central nervous system electrophysiology	29110	TBK1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	256471	MFSD8	OMIM:610951
HP:0030178	Abnormality of central nervous system electrophysiology	57192	MCOLN1	ORPHA:578
HP:0030178	Abnormality of central nervous system electrophysiology	23065	EMC1	ORPHA:480898
HP:0030178	Abnormality of central nervous system electrophysiology	8813	DPM1	OMIM:608799
HP:0030178	Abnormality of central nervous system electrophysiology	55670	PEX26	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	55670	PEX26	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5824	PEX19	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5824	PEX19	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5828	PEX2	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5828	PEX2	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8504	PEX3	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	8504	PEX3	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	9409	PEX16	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	9409	PEX16	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5190	PEX6	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5190	PEX6	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	OMIM:614920
HP:0030178	Abnormality of central nervous system electrophysiology	5830	PEX5	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5830	PEX5	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5189	PEX1	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5189	PEX1	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5193	PEX12	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5193	PEX12	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5194	PEX13	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5194	PEX13	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5195	PEX14	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5195	PEX14	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5192	PEX10	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5192	PEX10	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	23007	PLCH1	OMIM:619895
HP:0030178	Abnormality of central nervous system electrophysiology	340024	SLC6A19	ORPHA:2116
HP:0030178	Abnormality of central nervous system electrophysiology	57393	CLTRN	ORPHA:2116
HP:0030178	Abnormality of central nervous system electrophysiology	84168	ANTXR1	OMIM:230740
HP:0030178	Abnormality of central nervous system electrophysiology	54413	NLGN3	OMIM:300425
HP:0030178	Abnormality of central nervous system electrophysiology	57505	AARS2	OMIM:614096
HP:0030178	Abnormality of central nervous system electrophysiology	3658	IREB2	OMIM:618451
HP:0030178	Abnormality of central nervous system electrophysiology	58497	PRUNE1	ORPHA:544469
HP:0030178	Abnormality of central nervous system electrophysiology	57724	EPG5	ORPHA:1493
HP:0030178	Abnormality of central nervous system electrophysiology	5813	PURA	ORPHA:314655
HP:0030178	Abnormality of central nervous system electrophysiology	2068	ERCC2	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7507	XPA	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2071	ERCC3	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7508	XPC	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	1643	DDB2	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2072	ERCC4	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2073	ERCC5	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7187	TRAF3	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	81622	UNC93B1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	148022	TICAM1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	7098	TLR3	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	7098	TLR3	OMIM:613002
HP:0030178	Abnormality of central nervous system electrophysiology	435	ASL	ORPHA:23
HP:0030178	Abnormality of central nervous system electrophysiology	4558	MT-TF	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4572	MT-TQ	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4512	MT-CO1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4513	MT-CO2	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4514	MT-CO3	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4578	MT-TW	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4540	MT-ND5	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4541	MT-ND6	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4535	MT-ND1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4538	MT-ND4	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4567	MT-TL1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4574	MT-TS1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4575	MT-TS2	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4564	MT-TH	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	10785	WDR4	OMIM:618346
HP:0030178	Abnormality of central nervous system electrophysiology	10785	WDR4	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	2290	FOXG1	OMIM:613454
HP:0030178	Abnormality of central nervous system electrophysiology	29123	ANKRD11	ORPHA:2332
HP:0030178	Abnormality of central nervous system electrophysiology	22854	NTNG1	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	OMIM:180849
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0030178	Abnormality of central nervous system electrophysiology	23395	LARS2	OMIM:617021
HP:0030178	Abnormality of central nervous system electrophysiology	57520	HECW2	OMIM:617268
HP:0030178	Abnormality of central nervous system electrophysiology	8085	KMT2D	ORPHA:2322
HP:0030178	Abnormality of central nervous system electrophysiology	7403	KDM6A	ORPHA:2322
HP:0030178	Abnormality of central nervous system electrophysiology	2033	EP300	ORPHA:353284
HP:0030178	Abnormality of central nervous system electrophysiology	2033	EP300	OMIM:180849
HP:0030178	Abnormality of central nervous system electrophysiology	5080	PAX6	ORPHA:137902
HP:0030178	Abnormality of central nervous system electrophysiology	1312	COMT	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	23780	APOL2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	267012	DAOA	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	3356	HTR2A	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	6854	SYN2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	1814	DRD3	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	4524	MTHFR	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	27184	DISC2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	65078	RTN4R	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	80832	APOL4	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	1116	CHI3L1	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	4952	OCRL	ORPHA:534
HP:0030178	Abnormality of central nervous system electrophysiology	2067	ERCC1	OMIM:610758
HP:0030178	Abnormality of central nervous system electrophysiology	4948	OCA2	ORPHA:98794
HP:0030178	Abnormality of central nervous system electrophysiology	1725	DHPS	OMIM:618480
HP:0030178	Abnormality of central nervous system electrophysiology	3192	HNRNPU	OMIM:617391
HP:0030178	Abnormality of central nervous system electrophysiology	4704	NDUFA9	OMIM:618247
HP:0030178	Abnormality of central nervous system electrophysiology	23511	NUP188	OMIM:618804
HP:0030178	Abnormality of central nervous system electrophysiology	201163	FLCN	OMIM:610883
HP:0030178	Abnormality of central nervous system electrophysiology	5604	MAP2K1	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	5605	MAP2K2	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	673	BRAF	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	23258	DENND5A	OMIM:617281
HP:0030178	Abnormality of central nervous system electrophysiology	114548	NLRP3	ORPHA:1451
HP:0030178	Abnormality of central nervous system electrophysiology	6611	SMS	ORPHA:3063
HP:0030178	Abnormality of central nervous system electrophysiology	8943	AP3D1	OMIM:617050
HP:0030178	Abnormality of central nervous system electrophysiology	51241	COX16	OMIM:619355
HP:0030178	Abnormality of central nervous system electrophysiology	57003	CCDC47	OMIM:618268
HP:0030178	Abnormality of central nervous system electrophysiology	259232	NALCN	ORPHA:371364
HP:0030178	Abnormality of central nervous system electrophysiology	285175	UNC80	ORPHA:371364
HP:0030178	Abnormality of central nervous system electrophysiology	526	ATP6V1B2	ORPHA:79500
HP:0030178	Abnormality of central nervous system electrophysiology	7343	UBTF	ORPHA:500180
HP:0030178	Abnormality of central nervous system electrophysiology	151	ADRA2B	ORPHA:86814
HP:0030178	Abnormality of central nervous system electrophysiology	1501	CTNND2	ORPHA:86814
HP:0030178	Abnormality of central nervous system electrophysiology	8567	MADD	OMIM:619004
HP:0030178	Abnormality of central nervous system electrophysiology	8567	MADD	OMIM:619005
HP:0030178	Abnormality of central nervous system electrophysiology	10319	LAMC3	OMIM:614115
HP:0030178	Abnormality of central nervous system electrophysiology	8450	CUL4B	ORPHA:85293
HP:0030178	Abnormality of central nervous system electrophysiology	5625	PRODH	OMIM:239500
HP:0030178	Abnormality of central nervous system electrophysiology	3516	RBPJ	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	4851	NOTCH1	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	57514	ARHGAP31	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	57572	DOCK6	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	285203	EOGT	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	54567	DLL4	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	617	BCS1L	OMIM:124000
HP:0030178	Abnormality of central nervous system electrophysiology	84628	NTNG2	OMIM:618718
HP:0030178	Abnormality of central nervous system electrophysiology	3756	KCNH1	ORPHA:420561
HP:0030178	Abnormality of central nervous system electrophysiology	3090	HIC1	ORPHA:531
HP:0030178	Abnormality of central nervous system electrophysiology	7531	YWHAE	ORPHA:531
HP:0030178	Abnormality of central nervous system electrophysiology	57502	NLGN4X	OMIM:300495
HP:0030178	Abnormality of central nervous system electrophysiology	84295	PHF6	OMIM:301900
HP:0030178	Abnormality of central nervous system electrophysiology	54802	TRIT1	OMIM:617873
HP:0030178	Abnormality of central nervous system electrophysiology	5538	PPT1	OMIM:256730
HP:0030178	Abnormality of central nervous system electrophysiology	1968	EIF2S3	ORPHA:85282
HP:0030178	Abnormality of central nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0030178	Abnormality of central nervous system electrophysiology	4693	NDP	ORPHA:649
HP:0030178	Abnormality of central nervous system electrophysiology	7305	TYROBP	OMIM:221770
HP:0030178	Abnormality of central nervous system electrophysiology	51002	TPRKB	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	84942	WDR73	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	55644	OSGEP	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	57122	NUP107	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	55746	NUP133	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	112858	TP53RK	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	8270	LAGE3	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	57194	ATP10A	ORPHA:411515
HP:0030178	Abnormality of central nervous system electrophysiology	5138	PDE2A	ORPHA:31709
HP:0030178	Abnormality of central nervous system electrophysiology	112476	PRRT2	ORPHA:31709
HP:0030178	Abnormality of central nervous system electrophysiology	112476	PRRT2	ORPHA:306
HP:0030178	Abnormality of central nervous system electrophysiology	112476	PRRT2	OMIM:602066
HP:0030178	Abnormality of central nervous system electrophysiology	29968	PSAT1	ORPHA:284417
HP:0030178	Abnormality of central nervous system electrophysiology	84720	PIGO	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	93210	PGAP3	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	284098	PIGW	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	27315	PGAP2	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	55650	PIGV	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	9487	PIGL	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	10297	APC2	OMIM:617169
HP:0030178	Abnormality of central nervous system electrophysiology	3747	KCNC2	OMIM:619913
HP:0030178	Abnormality of central nervous system electrophysiology	60482	SLC5A7	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	4649	MYO9A	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	1305	COL13A1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	1103	CHAT	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6576	SLC25A1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6843	VAMP1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	375790	AGRN	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	127833	SYT2	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6572	SLC18A3	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6616	SNAP25	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	2563	GABRD	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	1181	CLCN2	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	3786	KCNQ3	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	22858	CILK1	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	785	CACNB4	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	785	CACNB4	OMIM:607682
HP:0030178	Abnormality of central nervous system electrophysiology	1476	CSTB	OMIM:254800
HP:0030178	Abnormality of central nervous system electrophysiology	1476	CSTB	ORPHA:308
HP:0030178	Abnormality of central nervous system electrophysiology	9289	ADGRG1	ORPHA:98889
HP:0030178	Abnormality of central nervous system electrophysiology	5297	PI4KA	ORPHA:98889
HP:0030178	Abnormality of central nervous system electrophysiology	144165	PRICKLE1	ORPHA:308
HP:0030178	Abnormality of central nervous system electrophysiology	950	SCARB2	ORPHA:308
HP:0030178	Abnormality of central nervous system electrophysiology	3155	HMGCL	ORPHA:20
HP:0030178	Abnormality of central nervous system electrophysiology	8243	SMC1A	OMIM:301044
HP:0030178	Abnormality of central nervous system electrophysiology	199857	ALG14	OMIM:619036
HP:0030178	Abnormality of central nervous system electrophysiology	9853	RUSC2	OMIM:617773
HP:0030178	Abnormality of central nervous system electrophysiology	343450	KCNT2	OMIM:617771
HP:0030178	Abnormality of central nervous system electrophysiology	10564	ARFGEF2	OMIM:608097
HP:0030178	Abnormality of central nervous system electrophysiology	7355	SLC35A2	ORPHA:356961
HP:0030178	Abnormality of central nervous system electrophysiology	7355	SLC35A2	OMIM:300896
HP:0030178	Abnormality of central nervous system electrophysiology	9526	MPDU1	OMIM:609180
HP:0030178	Abnormality of central nervous system electrophysiology	9526	MPDU1	ORPHA:79323
HP:0030178	Abnormality of central nervous system electrophysiology	8496	PPFIBP1	OMIM:620024
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	OMIM:308350
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	51112	TRAPPC12	ORPHA:500144
HP:0030178	Abnormality of central nervous system electrophysiology	51112	TRAPPC12	OMIM:617669
HP:0030178	Abnormality of central nervous system electrophysiology	26275	HIBCH	ORPHA:88639
HP:0030178	Abnormality of central nervous system electrophysiology	79868	ALG13	OMIM:300884
HP:0030178	Abnormality of central nervous system electrophysiology	79868	ALG13	ORPHA:324422
HP:0030178	Abnormality of central nervous system electrophysiology	51506	UFC1	OMIM:618076
HP:0030178	Abnormality of central nervous system electrophysiology	6487	ST3GAL3	OMIM:615006
HP:0030178	Abnormality of central nervous system electrophysiology	6487	ST3GAL3	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	112939	NACC1	ORPHA:500545
HP:0030178	Abnormality of central nervous system electrophysiology	55780	ERMARD	ORPHA:75857
HP:0030178	Abnormality of central nervous system electrophysiology	55780	ERMARD	OMIM:615544
HP:0030178	Abnormality of central nervous system electrophysiology	3767	KCNJ11	ORPHA:79134
HP:0030178	Abnormality of central nervous system electrophysiology	3767	KCNJ11	OMIM:618856
HP:0030178	Abnormality of central nervous system electrophysiology	79731	NARS2	ORPHA:79134
HP:0030178	Abnormality of central nervous system electrophysiology	6833	ABCC8	ORPHA:79134
HP:0030178	Abnormality of central nervous system electrophysiology	4763	NF1	OMIM:162200
HP:0030178	Abnormality of central nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0030178	Abnormality of central nervous system electrophysiology	84340	GFM2	OMIM:618397
HP:0030178	Abnormality of central nervous system electrophysiology	2560	GABRB1	OMIM:617153
HP:0030178	Abnormality of central nervous system electrophysiology	79641	ROGDI	OMIM:226750
HP:0030178	Abnormality of central nervous system electrophysiology	150094	SIK1	OMIM:616341
HP:0030178	Abnormality of central nervous system electrophysiology	150094	SIK1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	150094	SIK1	ORPHA:1935
HP:0030178	Abnormality of central nervous system electrophysiology	150094	SIK1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	535	ATP6V0A1	OMIM:619970
HP:0030178	Abnormality of central nervous system electrophysiology	6709	SPTAN1	OMIM:613477
HP:0030178	Abnormality of central nervous system electrophysiology	6709	SPTAN1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	9326	ZNHIT3	ORPHA:2836
HP:0030178	Abnormality of central nervous system electrophysiology	9326	ZNHIT3	OMIM:260565
HP:0030178	Abnormality of central nervous system electrophysiology	547	KIF1A	ORPHA:2836
HP:0030178	Abnormality of central nervous system electrophysiology	7965	AIMP2	OMIM:618006
HP:0030178	Abnormality of central nervous system electrophysiology	3054	HCFC1	OMIM:309541
HP:0030178	Abnormality of central nervous system electrophysiology	9361	LONP1	ORPHA:79243
HP:0030178	Abnormality of central nervous system electrophysiology	5160	PDHA1	ORPHA:79243
HP:0030178	Abnormality of central nervous system electrophysiology	5805	PTS	ORPHA:13
HP:0030178	Abnormality of central nervous system electrophysiology	1327	COX4I1	OMIM:619060
HP:0030178	Abnormality of central nervous system electrophysiology	25930	PTPN23	OMIM:618890
HP:0030178	Abnormality of central nervous system electrophysiology	5277	PIGA	OMIM:300868
HP:0030178	Abnormality of central nervous system electrophysiology	5277	PIGA	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	23327	NEDD4L	OMIM:617201
HP:0030178	Abnormality of central nervous system electrophysiology	1822	ATN1	OMIM:618494
HP:0030178	Abnormality of central nervous system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0030178	Abnormality of central nervous system electrophysiology	4761	NEUROD2	OMIM:618374
HP:0030178	Abnormality of central nervous system electrophysiology	4761	NEUROD2	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	84896	ATAD1	OMIM:618011
HP:0030178	Abnormality of central nervous system electrophysiology	1641	DCX	ORPHA:2148
HP:0030178	Abnormality of central nervous system electrophysiology	284184	NDUFAF8	OMIM:618776
HP:0030178	Abnormality of central nervous system electrophysiology	26040	SETBP1	OMIM:269150
HP:0030178	Abnormality of central nervous system electrophysiology	26040	SETBP1	ORPHA:798
HP:0030178	Abnormality of central nervous system electrophysiology	149371	EXOC8	OMIM:619076
HP:0030178	Abnormality of central nervous system electrophysiology	23316	CUX2	OMIM:618141
HP:0030178	Abnormality of central nervous system electrophysiology	6812	STXBP1	OMIM:612164
HP:0030178	Abnormality of central nervous system electrophysiology	55699	IARS2	OMIM:616007
HP:0030178	Abnormality of central nervous system electrophysiology	92609	TIMM50	OMIM:617698
HP:0030178	Abnormality of central nervous system electrophysiology	92609	TIMM50	ORPHA:505216
HP:0030178	Abnormality of central nervous system electrophysiology	8452	CUL3	OMIM:619239
HP:0030178	Abnormality of central nervous system electrophysiology	116115	ZNF526	OMIM:619877
HP:0030178	Abnormality of central nervous system electrophysiology	538	ATP7A	OMIM:309400
HP:0030178	Abnormality of central nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0030178	Abnormality of central nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0030178	Abnormality of central nervous system electrophysiology	85365	ALG2	ORPHA:79326
HP:0030178	Abnormality of central nervous system electrophysiology	85365	ALG2	OMIM:607906
HP:0030178	Abnormality of central nervous system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0030178	Abnormality of central nervous system electrophysiology	728294	D2HGDH	OMIM:600721
HP:0030178	Abnormality of central nervous system electrophysiology	2571	GAD1	OMIM:619124
HP:0030178	Abnormality of central nervous system electrophysiology	60558	GUF1	OMIM:617065
HP:0030178	Abnormality of central nervous system electrophysiology	60558	GUF1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	51124	IER3IP1	OMIM:614231
HP:0030178	Abnormality of central nervous system electrophysiology	26227	PHGDH	OMIM:601815
HP:0030178	Abnormality of central nervous system electrophysiology	7358	UGDH	OMIM:618792
HP:0030178	Abnormality of central nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0030178	Abnormality of central nervous system electrophysiology	56947	MFF	OMIM:617086
HP:0030178	Abnormality of central nervous system electrophysiology	2904	GRIN2B	OMIM:616139
HP:0030178	Abnormality of central nervous system electrophysiology	2904	GRIN2B	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	4190	MDH1	OMIM:618959
HP:0030178	Abnormality of central nervous system electrophysiology	9373	PLAA	ORPHA:521426
HP:0030178	Abnormality of central nervous system electrophysiology	55704	CCDC88A	OMIM:617507
HP:0030178	Abnormality of central nervous system electrophysiology	9440	MED17	OMIM:613668
HP:0030178	Abnormality of central nervous system electrophysiology	221692	PHACTR1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	221692	PHACTR1	OMIM:618298
HP:0030178	Abnormality of central nervous system electrophysiology	10695	CNPY3	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	10695	CNPY3	OMIM:617929
HP:0030178	Abnormality of central nervous system electrophysiology	23236	PLCB1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	23236	PLCB1	OMIM:613722
HP:0030178	Abnormality of central nervous system electrophysiology	11152	WDR45	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	10681	GNB5	ORPHA:542306
HP:0030178	Abnormality of central nervous system electrophysiology	55739	NAXD	OMIM:618321
HP:0030178	Abnormality of central nervous system electrophysiology	440	ASNS	OMIM:615574
HP:0030178	Abnormality of central nervous system electrophysiology	777	CACNA1E	OMIM:618285
HP:0030178	Abnormality of central nervous system electrophysiology	3785	KCNQ2	ORPHA:439218
HP:0030178	Abnormality of central nervous system electrophysiology	79718	TBL1XR1	OMIM:616944
HP:0030178	Abnormality of central nervous system electrophysiology	51294	PCDH12	OMIM:251280
HP:0030178	Abnormality of central nervous system electrophysiology	64116	SLC39A8	ORPHA:468699
HP:0030178	Abnormality of central nervous system electrophysiology	5048	PAFAH1B1	ORPHA:95232
HP:0030178	Abnormality of central nervous system electrophysiology	6509	SLC1A4	ORPHA:447997
HP:0030178	Abnormality of central nervous system electrophysiology	2801	GOLGA2	OMIM:620240
HP:0030178	Abnormality of central nervous system electrophysiology	10195	ALG3	OMIM:601110
HP:0030178	Abnormality of central nervous system electrophysiology	51733	UPB1	OMIM:613161
HP:0030178	Abnormality of central nervous system electrophysiology	7040	TGFB1	OMIM:618213
HP:0030178	Abnormality of central nervous system electrophysiology	1496	CTNNA2	OMIM:618174
HP:0030178	Abnormality of central nervous system electrophysiology	55753	OGDHL	OMIM:619701
HP:0030178	Abnormality of central nervous system electrophysiology	79751	SLC25A22	ORPHA:1935
HP:0030178	Abnormality of central nervous system electrophysiology	79751	SLC25A22	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	3736	KCNA1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	9091	PIGQ	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2902	GRIN1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	8573	CASK	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	23312	DMXL2	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2917	GRM7	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	11284	PNKP	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0030178	Abnormality of central nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0030178	Abnormality of central nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0030178	Abnormality of central nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0030178	Abnormality of central nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0030178	Abnormality of central nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030178	Abnormality of central nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0030178	Abnormality of central nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0030178	Abnormality of central nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0030178	Abnormality of central nervous system electrophysiology	2074	ERCC6	OMIM:133540
HP:0030178	Abnormality of central nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0030178	Abnormality of central nervous system electrophysiology	10397	NDRG1	OMIM:601455
HP:0030178	Abnormality of central nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0030178	Abnormality of central nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0030178	Abnormality of central nervous system electrophysiology	57165	GJC2	ORPHA:320401
HP:0030178	Abnormality of central nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030178	Abnormality of central nervous system electrophysiology	4976	OPA1	OMIM:125250
HP:0030178	Abnormality of central nervous system electrophysiology	1161	ERCC8	OMIM:216400
HP:0030178	Abnormality of central nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0030178	Abnormality of central nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0030178	Abnormality of central nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0030178	Abnormality of central nervous system electrophysiology	5354	PLP1	ORPHA:280219
HP:0030178	Abnormality of central nervous system electrophysiology	6310	ATXN1	ORPHA:98755
HP:0030178	Abnormality of central nervous system electrophysiology	1203	CLN5	ORPHA:228360
HP:0030178	Abnormality of central nervous system electrophysiology	443	ASPA	OMIM:271900
HP:0030178	Abnormality of central nervous system electrophysiology	2775	GNAO1	OMIM:617493
HP:0030178	Abnormality of central nervous system electrophysiology	51604	PIGT	OMIM:615398
HP:0030178	Abnormality of central nervous system electrophysiology	51604	PIGT	ORPHA:369837
HP:0030178	Abnormality of central nervous system electrophysiology	8913	CACNA1G	OMIM:618087
HP:0030178	Abnormality of central nervous system electrophysiology	8218	CLTCL1	ORPHA:453510
HP:0030178	Abnormality of central nervous system electrophysiology	6711	SPTBN1	OMIM:619475
HP:0030178	Abnormality of central nervous system electrophysiology	5530	PPP3CA	OMIM:617711
HP:0030178	Abnormality of central nervous system electrophysiology	51227	PIGP	OMIM:617599
HP:0030178	Abnormality of central nervous system electrophysiology	132	ADK	OMIM:614300
HP:0030178	Abnormality of central nervous system electrophysiology	51412	ACTL6B	OMIM:618468
HP:0030178	Abnormality of central nervous system electrophysiology	85440	DOCK7	ORPHA:411986
HP:0030178	Abnormality of central nervous system electrophysiology	22845	DOLK	ORPHA:91131
HP:0030178	Abnormality of central nervous system electrophysiology	23389	MED13L	ORPHA:369891
HP:0030178	Abnormality of central nervous system electrophysiology	6335	SCN9A	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	6326	SCN2A	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	6324	SCN1B	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	57526	PCDH19	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	10128	LRPPRC	ORPHA:70472
HP:0030178	Abnormality of central nervous system electrophysiology	501	ALDH7A1	ORPHA:3006
HP:0030178	Abnormality of central nervous system electrophysiology	11212	PLPBP	ORPHA:3006
HP:0030178	Abnormality of central nervous system electrophysiology	8131	NPRL3	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	10641	NPRL2	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	9681	DEPDC5	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	6821	SUOX	OMIM:272300
HP:0030178	Abnormality of central nervous system electrophysiology	4615	MYD88	ORPHA:33226
HP:0030178	Abnormality of central nervous system electrophysiology	6792	CDKL5	ORPHA:505652
HP:0030178	Abnormality of central nervous system electrophysiology	1468	SLC25A10	OMIM:618972
HP:0030178	Abnormality of central nervous system electrophysiology	79587	CARS2	OMIM:616672
HP:0030178	Abnormality of central nervous system electrophysiology	2257	FGF12	OMIM:617166
HP:0030178	Abnormality of central nervous system electrophysiology	2782	GNB1	ORPHA:488613
HP:0030178	Abnormality of central nervous system electrophysiology	2782	GNB1	OMIM:616973
HP:0030178	Abnormality of central nervous system electrophysiology	1106	CHD2	OMIM:615369
HP:0030178	Abnormality of central nervous system electrophysiology	1806	DPYD	ORPHA:1675
HP:0030178	Abnormality of central nervous system electrophysiology	478	ATP1A3	OMIM:619606
HP:0030178	Abnormality of central nervous system electrophysiology	7280	TUBB2A	OMIM:615763
HP:0030178	Abnormality of central nervous system electrophysiology	6334	SCN8A	OMIM:614558
HP:0030178	Abnormality of central nervous system electrophysiology	10565	ARFGEF1	OMIM:619964
HP:0030178	Abnormality of central nervous system electrophysiology	6304	SATB1	OMIM:619229
HP:0030178	Abnormality of central nervous system electrophysiology	9568	GABBR2	OMIM:617904
HP:0030178	Abnormality of central nervous system electrophysiology	56052	ALG1	OMIM:608540
HP:0030178	Abnormality of central nervous system electrophysiology	8869	ST3GAL5	OMIM:609056
HP:0030178	Abnormality of central nervous system electrophysiology	1759	DNM1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	8120	AP3B2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	523	ATP6V1A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	10991	SLC38A3	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	51343	FZR1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	22906	TRAK1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	1917	EEF1A2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2561	GABRB2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	7532	YWHAG	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	79876	UBA5	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	6328	SCN3A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2558	GABRA5	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	781	CACNA2D1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2906	GRIN2D	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	116150	NUS1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	10659	CELF2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	774	CACNA1B	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	1213	CLTC	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	51741	WWOX	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	23334	SZT2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	348980	HCN1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	6506	SLC1A2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	8867	SYNJ1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2258	FGF13	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	477	ATP1A2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	3745	KCNB1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	284111	SLC13A5	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	25977	NECAP1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	16	AARS1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	22866	CNKSR2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2555	GABRA2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	55152	DALRD3	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	773	CACNA1A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	26999	CYFIP2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	4915	NTRK2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	25973	PARS2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	23097	CDK19	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	64801	ARV1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	79947	DHDDS	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	84992	PIGY	OMIM:616809
HP:0030178	Abnormality of central nervous system electrophysiology	2903	GRIN2A	ORPHA:289266
HP:0030178	Abnormality of central nervous system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0030178	Abnormality of central nervous system electrophysiology	11133	KPTN	ORPHA:397612
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	OMIM:300055
HP:0030178	Abnormality of central nervous system electrophysiology	283987	HID1	OMIM:619983
HP:0030178	Abnormality of central nervous system electrophysiology	10588	MTHFS	OMIM:618367
HP:0030178	Abnormality of central nervous system electrophysiology	2893	GRIA4	OMIM:617864
HP:0030178	Abnormality of central nervous system electrophysiology	1593	CYP27A1	OMIM:213700
HP:0030178	Abnormality of central nervous system electrophysiology	11342	RNF13	ORPHA:544503
HP:0030178	Abnormality of central nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0030178	Abnormality of central nervous system electrophysiology	8831	SYNGAP1	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	1173	AP2M1	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	340533	NEXMIF	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	6529	SLC6A1	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	26047	CNTNAP2	ORPHA:163681
HP:0030178	Abnormality of central nervous system electrophysiology	5621	PRNP	ORPHA:282166
HP:0030178	Abnormality of central nervous system electrophysiology	2581	GALC	ORPHA:206443
HP:0030178	Abnormality of central nervous system electrophysiology	6513	SLC2A1	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	2562	GABRB3	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	2554	GABRA1	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	8912	CACNA1H	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	8629	JRK	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	3737	KCNA2	OMIM:616366
HP:0030178	Abnormality of central nervous system electrophysiology	23067	SETD1B	OMIM:619000
HP:0030178	Abnormality of central nervous system electrophysiology	6323	SCN1A	OMIM:619317
HP:0030178	Abnormality of central nervous system electrophysiology	3778	KCNMA1	OMIM:609446
HP:0030178	Abnormality of central nervous system electrophysiology	3778	KCNMA1	ORPHA:79137
HP:0030178	Abnormality of central nervous system electrophysiology	114327	EFHC1	OMIM:607631
HP:0030178	Abnormality of central nervous system electrophysiology	2566	GABRG2	OMIM:607681
HP:0030178	Abnormality of central nervous system electrophysiology	10157	AASS	ORPHA:2203
HP:0030178	Abnormality of central nervous system electrophysiology	57094	CPA6	OMIM:614417
HP:0030178	Abnormality of central nervous system electrophysiology	112755	STX1B	ORPHA:36387
HP:0030178	Abnormality of central nervous system electrophysiology	84059	ADGRV1	ORPHA:36387
HP:0030178	Abnormality of central nervous system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0030178	Abnormality of central nervous system electrophysiology	1020	CDK5	OMIM:616342
HP:0030178	Abnormality of central nervous system electrophysiology	94005	PIGS	OMIM:618143
HP:0030178	Abnormality of central nervous system electrophysiology	8818	DPM2	ORPHA:329178
HP:0030178	Abnormality of central nervous system electrophysiology	708	C1QBP	OMIM:617713
HP:0030178	Abnormality of central nervous system electrophysiology	2744	GLS	OMIM:618328
HP:0030178	Abnormality of central nervous system electrophysiology	57176	VARS2	OMIM:615917
HP:0030178	Abnormality of central nervous system electrophysiology	7707	ZNF148	OMIM:617260
HP:0030178	Abnormality of central nervous system electrophysiology	91137	SLC25A46	OMIM:619303
HP:0030178	Abnormality of central nervous system electrophysiology	18	ABAT	OMIM:613163
HP:0030178	Abnormality of central nervous system electrophysiology	4905	NSF	OMIM:619340
HP:0030178	Abnormality of central nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0030178	Abnormality of central nervous system electrophysiology	221927	BRAT1	OMIM:614498
HP:0030178	Abnormality of central nervous system electrophysiology	55163	PNPO	ORPHA:79096
HP:0030178	Abnormality of central nervous system electrophysiology	23219	FBXO28	OMIM:619777
HP:0030178	Abnormality of central nervous system electrophysiology	55164	SHQ1	OMIM:619922
HP:0030178	Abnormality of central nervous system electrophysiology	10715	CERS1	OMIM:616230
HP:0030178	Abnormality of central nervous system electrophysiology	26960	NBEA	OMIM:619157
HP:0030178	Abnormality of central nervous system electrophysiology	2892	GRIA3	OMIM:300699
HP:0030178	Abnormality of central nervous system electrophysiology	104	ADARB1	OMIM:618862
HP:0030178	Abnormality of central nervous system electrophysiology	92335	STRADA	ORPHA:500533
HP:0030178	Abnormality of central nervous system electrophysiology	2890	GRIA1	OMIM:619931
HP:0030178	Abnormality of central nervous system electrophysiology	9570	GOSR2	OMIM:620166
HP:0030178	Abnormality of central nervous system electrophysiology	84081	NSRP1	OMIM:620001
HP:0030178	Abnormality of central nervous system electrophysiology	815	CAMK2A	OMIM:618095
HP:0030178	Abnormality of central nervous system electrophysiology	10479	SLC9A6	OMIM:300243
HP:0030178	Abnormality of central nervous system electrophysiology	10844	TUBGCP2	OMIM:618737
HP:0030178	Abnormality of central nervous system electrophysiology	6900	CNTN2	OMIM:615400
HP:0030178	Abnormality of central nervous system electrophysiology	7407	VARS1	OMIM:617802
HP:0030178	Abnormality of central nervous system electrophysiology	9990	SLC12A6	OMIM:218000
HP:0030178	Abnormality of central nervous system electrophysiology	4131	MAP1B	OMIM:618918
HP:0030178	Abnormality of central nervous system electrophysiology	154881	KCTD7	ORPHA:263516
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	ORPHA:98795
HP:0030178	Abnormality of central nervous system electrophysiology	5649	RELN	ORPHA:101046
HP:0030178	Abnormality of central nervous system electrophysiology	9211	LGI1	ORPHA:101046
HP:0030178	Abnormality of central nervous system electrophysiology	284058	KANSL1	ORPHA:363965
HP:0030178	Abnormality of central nervous system electrophysiology	284058	KANSL1	ORPHA:363958
HP:0030178	Abnormality of central nervous system electrophysiology	54681	P4HTM	OMIM:618493
HP:0030178	Abnormality of central nervous system electrophysiology	1137	CHRNA4	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	1135	CHRNA2	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57010	CABP4	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	1141	CHRNB2	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57582	KCNT1	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	1392	CRH	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57107	PDSS2	ORPHA:255249
HP:0030178	Abnormality of central nervous system electrophysiology	27235	COQ2	ORPHA:255249
HP:0030178	Abnormality of central nervous system electrophysiology	54872	PIGG	ORPHA:488635
HP:0030178	Abnormality of central nervous system electrophysiology	54872	PIGG	OMIM:616917
HP:0030178	Abnormality of central nervous system electrophysiology	1183	CLCN4	ORPHA:485350
HP:0030178	Abnormality of central nervous system electrophysiology	5602	MAPK10	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0030178	Abnormality of central nervous system electrophysiology	6857	SYT1	ORPHA:522077
HP:0030178	Abnormality of central nervous system electrophysiology	1605	DAG1	ORPHA:370997
HP:0030178	Abnormality of central nervous system electrophysiology	25814	ATXN10	ORPHA:98761
HP:0030178	Abnormality of central nervous system electrophysiology	2746	GLUD1	ORPHA:35878
HP:0030178	Abnormality of central nervous system electrophysiology	3746	KCNC1	OMIM:616187
HP:0030178	Abnormality of central nervous system electrophysiology	440138	ALG11	OMIM:613661
HP:0030178	Abnormality of central nervous system electrophysiology	55367	PIDD1	OMIM:619827
HP:0030178	Abnormality of central nervous system electrophysiology	93627	TBCK	ORPHA:488632
HP:0030178	Abnormality of central nervous system electrophysiology	2055	CLN8	ORPHA:1947
HP:0030178	Abnormality of central nervous system electrophysiology	8659	ALDH4A1	ORPHA:79101
HP:0030178	Abnormality of central nervous system electrophysiology	25978	CHMP2B	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	25978	CHMP2B	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	5663	PSEN1	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	5663	PSEN1	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	2896	GRN	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	2896	GRN	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	54664	TMEM106B	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	54664	TMEM106B	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	8878	SQSTM1	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	4137	MAPT	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	4137	MAPT	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	7415	VCP	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	7415	VCP	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	7030	TFE3	OMIM:301066
HP:0030178	Abnormality of central nervous system electrophysiology	23229	ARHGEF9	ORPHA:163985
HP:0030178	Abnormality of central nervous system electrophysiology	23096	IQSEC2	ORPHA:217377
HP:0030178	Abnormality of central nervous system electrophysiology	23732	FRRS1L	ORPHA:725
HP:0030178	Abnormality of central nervous system electrophysiology	10273	STUB1	ORPHA:412057
HP:0030178	Abnormality of central nervous system electrophysiology	26278	SACS	ORPHA:98
HP:0030178	Abnormality of central nervous system electrophysiology	4747	NEFL	ORPHA:99939
HP:0030178	Abnormality of central nervous system electrophysiology	6253	RTN2	ORPHA:100993
HP:0030178	Abnormality of central nervous system electrophysiology	51271	UBAP1	ORPHA:100993
HP:0030178	Abnormality of central nervous system electrophysiology	126129	CPT1C	ORPHA:444099
HP:0030178	Abnormality of central nervous system electrophysiology	3839	KPNA3	ORPHA:171612
HP:0030178	Abnormality of central nervous system electrophysiology	9897	WASHC5	ORPHA:100989
HP:0030178	Abnormality of central nervous system electrophysiology	9197	SLC33A1	ORPHA:171863
HP:0030178	Abnormality of central nervous system electrophysiology	10815	CPLX1	ORPHA:352582
HP:0030178	Abnormality of central nervous system electrophysiology	5290	PIK3CA	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	2475	MTOR	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	10000	AKT3	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	80036	TRPM3	OMIM:620224
HP:0030178	Abnormality of central nervous system electrophysiology	6134	RPL10	ORPHA:459070
HP:0030178	Abnormality of central nervous system electrophysiology	81603	TRIM8	OMIM:619428
HP:0030178	Abnormality of central nervous system electrophysiology	23102	TBC1D2B	OMIM:619323
HP:0030178	Abnormality of central nervous system electrophysiology	22880	MORC2	ORPHA:466768
HP:0030178	Abnormality of central nervous system electrophysiology	7274	TTPA	OMIM:277460
HP:0030178	Abnormality of central nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0030179	Abnormal peripheral action potential amplitude	10397	NDRG1	ORPHA:99950
HP:0030179	Abnormal peripheral action potential amplitude	2395	FXN	OMIM:229300
HP:0030179	Abnormal peripheral action potential amplitude	6652	SORD	OMIM:618912
HP:0030179	Abnormal peripheral action potential amplitude	22948	CCT5	OMIM:256840
HP:0030179	Abnormal peripheral action potential amplitude	23230	VPS13A	ORPHA:2388
HP:0030179	Abnormal peripheral action potential amplitude	8449	DHX16	OMIM:618733
HP:0030179	Abnormal peripheral action potential amplitude	4000	LMNA	ORPHA:98856
HP:0030179	Abnormal peripheral action potential amplitude	6310	ATXN1	OMIM:164400
HP:0030179	Abnormal peripheral action potential amplitude	26353	HSPB8	OMIM:608673
HP:0030179	Abnormal peripheral action potential amplitude	10558	SPTLC1	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	25923	ATL3	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	9517	SPTLC2	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	51062	ATL1	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	59341	TRPV4	OMIM:606071
HP:0030179	Abnormal peripheral action potential amplitude	22880	MORC2	ORPHA:466768
HP:0030179	Abnormal peripheral action potential amplitude	54332	GDAP1	OMIM:607706
HP:0030179	Abnormal peripheral action potential amplitude	5981	RFC1	OMIM:614575
HP:0030179	Abnormal peripheral action potential amplitude	81846	SBF2	ORPHA:99956
HP:0030179	Abnormal peripheral action potential amplitude	4747	NEFL	OMIM:607684
HP:0030179	Abnormal peripheral action potential amplitude	4358	MPV17	OMIM:618400
HP:0030179	Abnormal peripheral action potential amplitude	9516	LITAF	OMIM:601098
HP:0030179	Abnormal peripheral action potential amplitude	3098	HK1	ORPHA:99953
HP:0030179	Abnormal peripheral action potential amplitude	10342	TFG	ORPHA:90117
HP:0030179	Abnormal peripheral action potential amplitude	10049	DNAJB6	OMIM:603511
HP:0030179	Abnormal peripheral action potential amplitude	23064	SETX	OMIM:602433
HP:0030179	Abnormal peripheral action potential amplitude	7879	RAB7A	OMIM:600882
HP:0030179	Abnormal peripheral action potential amplitude	10280	SIGMAR1	OMIM:605726
HP:0030179	Abnormal peripheral action potential amplitude	11117	EMILIN1	OMIM:620080
HP:0030179	Abnormal peripheral action potential amplitude	7384	UQCRC1	OMIM:619279
HP:0030179	Abnormal peripheral action potential amplitude	6843	VAMP1	OMIM:618323
HP:0030179	Abnormal peripheral action potential amplitude	5375	PMP2	OMIM:618279
HP:0030179	Abnormal peripheral action potential amplitude	127833	SYT2	OMIM:616040
HP:0030179	Abnormal peripheral action potential amplitude	7317	UBA1	OMIM:301830
HP:0030179	Abnormal peripheral action potential amplitude	26580	BSCL2	OMIM:619112
HP:0030179	Abnormal peripheral action potential amplitude	57863	CADM3	OMIM:619519
HP:0030179	Abnormal peripheral action potential amplitude	3735	KARS1	OMIM:613641
HP:0030179	Abnormal peripheral action potential amplitude	57679	ALS2	OMIM:606353
HP:0030182	Tetraplegia/tetraparesis	84065	TMEM222	OMIM:619470
HP:0030182	Tetraplegia/tetraparesis	5354	PLP1	ORPHA:280224
HP:0030182	Tetraplegia/tetraparesis	5354	PLP1	ORPHA:280219
HP:0030182	Tetraplegia/tetraparesis	3763	KCNJ6	ORPHA:435628
HP:0030182	Tetraplegia/tetraparesis	3763	KCNJ6	OMIM:614098
HP:0030182	Tetraplegia/tetraparesis	11340	EXOSC8	OMIM:616081
HP:0030182	Tetraplegia/tetraparesis	8243	SMC1A	OMIM:301044
HP:0030182	Tetraplegia/tetraparesis	10617	STAMBP	OMIM:614261
HP:0030182	Tetraplegia/tetraparesis	51399	TRAPPC4	OMIM:618741
HP:0030182	Tetraplegia/tetraparesis	84879	MFSD2A	OMIM:616486
HP:0030182	Tetraplegia/tetraparesis	6659	SOX4	OMIM:618506
HP:0030182	Tetraplegia/tetraparesis	4337	MOCS1	OMIM:252150
HP:0030182	Tetraplegia/tetraparesis	7355	SLC35A2	ORPHA:356961
HP:0030182	Tetraplegia/tetraparesis	84334	COA8	ORPHA:436271
HP:0030182	Tetraplegia/tetraparesis	84334	COA8	OMIM:619061
HP:0030182	Tetraplegia/tetraparesis	90624	LYRM7	OMIM:615838
HP:0030182	Tetraplegia/tetraparesis	57679	ALS2	OMIM:606353
HP:0030182	Tetraplegia/tetraparesis	57679	ALS2	ORPHA:247604
HP:0030182	Tetraplegia/tetraparesis	57679	ALS2	OMIM:205100
HP:0030182	Tetraplegia/tetraparesis	6571	SLC18A2	ORPHA:352649
HP:0030182	Tetraplegia/tetraparesis	11160	ERLIN2	ORPHA:247604
HP:0030182	Tetraplegia/tetraparesis	170302	ARX	OMIM:308350
HP:0030182	Tetraplegia/tetraparesis	5660	PSAP	OMIM:249900
HP:0030182	Tetraplegia/tetraparesis	5631	PRPS1	ORPHA:423479
HP:0030182	Tetraplegia/tetraparesis	100147744	RNU7-1	OMIM:619487
HP:0030182	Tetraplegia/tetraparesis	60558	GUF1	OMIM:617065
HP:0030182	Tetraplegia/tetraparesis	6647	SOD1	OMIM:618598
HP:0030182	Tetraplegia/tetraparesis	51601	LIPT1	OMIM:616299
HP:0030182	Tetraplegia/tetraparesis	549	AUH	ORPHA:67046
HP:0030182	Tetraplegia/tetraparesis	6905	TBCE	ORPHA:496756
HP:0030182	Tetraplegia/tetraparesis	387787	LIPT2	OMIM:617668
HP:0030182	Tetraplegia/tetraparesis	473	RERE	OMIM:616975
HP:0030182	Tetraplegia/tetraparesis	4010	LMX1B	ORPHA:495818
HP:0030182	Tetraplegia/tetraparesis	6812	STXBP1	ORPHA:495818
HP:0030182	Tetraplegia/tetraparesis	10157	AASS	ORPHA:2203
HP:0030182	Tetraplegia/tetraparesis	79152	FA2H	ORPHA:171629
HP:0030182	Tetraplegia/tetraparesis	79152	FA2H	OMIM:612319
HP:0030182	Tetraplegia/tetraparesis	64135	IFIH1	OMIM:615846
HP:0030182	Tetraplegia/tetraparesis	498	ATP5F1A	OMIM:620358
HP:0030182	Tetraplegia/tetraparesis	5048	PAFAH1B1	OMIM:607432
HP:0030182	Tetraplegia/tetraparesis	79944	L2HGDH	OMIM:236792
HP:0030182	Tetraplegia/tetraparesis	79944	L2HGDH	ORPHA:79314
HP:0030182	Tetraplegia/tetraparesis	2192	FBLN1	ORPHA:404451
HP:0030182	Tetraplegia/tetraparesis	284403	WDR62	OMIM:604317
HP:0030182	Tetraplegia/tetraparesis	51204	TACO1	OMIM:619052
HP:0030182	Tetraplegia/tetraparesis	2937	GSS	OMIM:266130
HP:0030182	Tetraplegia/tetraparesis	65055	REEP1	ORPHA:101011
HP:0030182	Tetraplegia/tetraparesis	348	APOE	OMIM:607822
HP:0030182	Tetraplegia/tetraparesis	5663	PSEN1	OMIM:607822
HP:0030182	Tetraplegia/tetraparesis	4001	LMNB1	OMIM:619179
HP:0030182	Tetraplegia/tetraparesis	4508	MT-ATP6	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	23636	NUP62	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	103	ADAR	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	7143	TNR	OMIM:619653
HP:0030182	Tetraplegia/tetraparesis	3899	AFF3	OMIM:619297
HP:0030182	Tetraplegia/tetraparesis	215	ABCD1	ORPHA:139396
HP:0030182	Tetraplegia/tetraparesis	6389	SDHA	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	6390	SDHB	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	6392	SDHD	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	644096	SDHAF1	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	29960	MRM2	OMIM:618567
HP:0030182	Tetraplegia/tetraparesis	8398	PLA2G6	ORPHA:35069
HP:0030182	Tetraplegia/tetraparesis	10195	ALG3	ORPHA:79321
HP:0030182	Tetraplegia/tetraparesis	10195	ALG3	OMIM:601110
HP:0030182	Tetraplegia/tetraparesis	124454	EARS2	OMIM:614924
HP:0030182	Tetraplegia/tetraparesis	29968	PSAT1	ORPHA:284417
HP:0030182	Tetraplegia/tetraparesis	27247	NFU1	OMIM:605711
HP:0030182	Tetraplegia/tetraparesis	1968	EIF2S3	OMIM:300148
HP:0030182	Tetraplegia/tetraparesis	58497	PRUNE1	OMIM:617481
HP:0030182	Tetraplegia/tetraparesis	58497	PRUNE1	ORPHA:544469
HP:0030182	Tetraplegia/tetraparesis	84188	FAR1	ORPHA:438178
HP:0030182	Tetraplegia/tetraparesis	84188	FAR1	OMIM:616154
HP:0030182	Tetraplegia/tetraparesis	221692	PHACTR1	OMIM:618298
HP:0030182	Tetraplegia/tetraparesis	523	ATP6V1A	OMIM:618012
HP:0030182	Tetraplegia/tetraparesis	3785	KCNQ2	OMIM:613720
HP:0030182	Tetraplegia/tetraparesis	56978	PRDM8	ORPHA:324290
HP:0030182	Tetraplegia/tetraparesis	54808	DYM	ORPHA:239
HP:0030182	Tetraplegia/tetraparesis	2760	GM2A	OMIM:272750
HP:0030182	Tetraplegia/tetraparesis	3028	HSD17B10	ORPHA:391428
HP:0030182	Tetraplegia/tetraparesis	9131	AIFM1	OMIM:300232
HP:0030182	Tetraplegia/tetraparesis	3094	HINT1	ORPHA:324442
HP:0030182	Tetraplegia/tetraparesis	4750	NEK1	OMIM:617892
HP:0030182	Tetraplegia/tetraparesis	51728	POLR3K	OMIM:619310
HP:0030182	Tetraplegia/tetraparesis	10564	ARFGEF2	OMIM:608097
HP:0030182	Tetraplegia/tetraparesis	4860	PNP	OMIM:613179
HP:0030182	Tetraplegia/tetraparesis	4038	LRP4	OMIM:614305
HP:0030182	Tetraplegia/tetraparesis	7360	UGP2	OMIM:618744
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	OMIM:167320
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	OMIM:613954
HP:0030182	Tetraplegia/tetraparesis	773	CACNA1A	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	6507	SLC1A3	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	1282	COL4A1	OMIM:175780
HP:0030182	Tetraplegia/tetraparesis	5428	POLG	OMIM:203700
HP:0030182	Tetraplegia/tetraparesis	2521	FUS	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	8878	SQSTM1	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	23435	TARDBP	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	29110	TBK1	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	400916	CHCHD10	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	80704	SLC19A3	OMIM:607483
HP:0030182	Tetraplegia/tetraparesis	80704	SLC19A3	ORPHA:263410
HP:0030182	Tetraplegia/tetraparesis	203228	C9orf72	OMIM:105550
HP:0030182	Tetraplegia/tetraparesis	8050	PDHX	ORPHA:255182
HP:0030182	Tetraplegia/tetraparesis	26580	BSCL2	ORPHA:363400
HP:0030182	Tetraplegia/tetraparesis	26580	BSCL2	OMIM:615924
HP:0030182	Tetraplegia/tetraparesis	2571	GAD1	OMIM:619124
HP:0030182	Tetraplegia/tetraparesis	128240	NAXE	OMIM:617186
HP:0030182	Tetraplegia/tetraparesis	79587	CARS2	ORPHA:477774
HP:0030182	Tetraplegia/tetraparesis	79587	CARS2	OMIM:616672
HP:0030182	Tetraplegia/tetraparesis	4722	NDUFS3	OMIM:618230
HP:0030182	Tetraplegia/tetraparesis	23287	AGTPBP1	OMIM:618276
HP:0030182	Tetraplegia/tetraparesis	347733	TUBB2B	OMIM:610031
HP:0030182	Tetraplegia/tetraparesis	6506	SLC1A2	OMIM:617105
HP:0030182	Tetraplegia/tetraparesis	2581	GALC	ORPHA:206448
HP:0030182	Tetraplegia/tetraparesis	7345	UCHL1	OMIM:615491
HP:0030182	Tetraplegia/tetraparesis	340533	NEXMIF	ORPHA:85277
HP:0030182	Tetraplegia/tetraparesis	1757	SARDH	ORPHA:3129
HP:0030182	Tetraplegia/tetraparesis	55679	LIMS2	OMIM:616827
HP:0030182	Tetraplegia/tetraparesis	64802	NMNAT1	OMIM:619260
HP:0030182	Tetraplegia/tetraparesis	2632	GBE1	OMIM:263570
HP:0030182	Tetraplegia/tetraparesis	1468	SLC25A10	OMIM:618972
HP:0030182	Tetraplegia/tetraparesis	8792	TNFRSF11A	OMIM:602080
HP:0030182	Tetraplegia/tetraparesis	5498	PPOX	ORPHA:79473
HP:0030182	Tetraplegia/tetraparesis	2697	GJA1	OMIM:164200
HP:0030182	Tetraplegia/tetraparesis	760	CA2	ORPHA:2785
HP:0030182	Tetraplegia/tetraparesis	6904	TBCD	ORPHA:496641
HP:0030182	Tetraplegia/tetraparesis	4702	NDUFA8	OMIM:619272
HP:0030182	Tetraplegia/tetraparesis	10134	BCAP31	OMIM:300475
HP:0030182	Tetraplegia/tetraparesis	10134	BCAP31	ORPHA:369939
HP:0030182	Tetraplegia/tetraparesis	5832	ALDH18A1	OMIM:616586
HP:0030182	Tetraplegia/tetraparesis	5832	ALDH18A1	ORPHA:447760
HP:0030182	Tetraplegia/tetraparesis	11284	PNKP	OMIM:616267
HP:0030182	Tetraplegia/tetraparesis	2260	FGFR1	ORPHA:2396
HP:0030182	Tetraplegia/tetraparesis	3845	KRAS	ORPHA:2396
HP:0030182	Tetraplegia/tetraparesis	22845	DOLK	OMIM:610768
HP:0030182	Tetraplegia/tetraparesis	100134444	KCNJ18	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	2556	GABRA3	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	779	CACNA1S	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	701	BUB1B	OMIM:257300
HP:0030182	Tetraplegia/tetraparesis	5903	RANBP2	OMIM:608033
HP:0030182	Tetraplegia/tetraparesis	5551	PRF1	OMIM:603553
HP:0030182	Tetraplegia/tetraparesis	56246	MRAP	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	6770	STAR	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	4158	MC2R	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	23530	NNT	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	10587	TXNRD2	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	54828	BCAS3	OMIM:619641
HP:0030182	Tetraplegia/tetraparesis	374354	NHLRC2	OMIM:618278
HP:0030182	Tetraplegia/tetraparesis	133686	NADK2	OMIM:616034
HP:0030182	Tetraplegia/tetraparesis	51693	TRAPPC2L	OMIM:618331
HP:0030182	Tetraplegia/tetraparesis	1806	DPYD	OMIM:274270
HP:0030182	Tetraplegia/tetraparesis	10342	TFG	OMIM:604484
HP:0030182	Tetraplegia/tetraparesis	57582	KCNT1	OMIM:614959
HP:0030182	Tetraplegia/tetraparesis	410	ARSA	OMIM:250100
HP:0030182	Tetraplegia/tetraparesis	85465	SELENOI	ORPHA:506353
HP:0030182	Tetraplegia/tetraparesis	478	ATP1A3	OMIM:614820
HP:0030182	Tetraplegia/tetraparesis	477	ATP1A2	OMIM:104290
HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	2395	FXN	ORPHA:95
HP:0030185	Isometric tremor	6711	SPTBN1	OMIM:619475
HP:0030186	Kinetic tremor	10749	KIF1C	ORPHA:397946
HP:0030186	Kinetic tremor	773	CACNA1A	OMIM:183086
HP:0030186	Kinetic tremor	773	CACNA1A	ORPHA:98758
HP:0030186	Kinetic tremor	55703	POLR3B	OMIM:614381
HP:0030186	Kinetic tremor	9524	TECR	OMIM:614020
HP:0030186	Kinetic tremor	124997	WDR81	OMIM:610185
HP:0030186	Kinetic tremor	1161	ERCC8	ORPHA:90324
HP:0030186	Kinetic tremor	2074	ERCC6	ORPHA:90324
HP:0030186	Kinetic tremor	775	CACNA1C	OMIM:620029
HP:0030186	Kinetic tremor	5428	POLG	OMIM:258450
HP:0030186	Kinetic tremor	23600	AMACR	OMIM:614307
HP:0030186	Kinetic tremor	5457	POU4F1	ORPHA:314647
HP:0030186	Kinetic tremor	5457	POU4F1	OMIM:619352
HP:0030186	Kinetic tremor	23261	CAMTA1	ORPHA:314647
HP:0030186	Kinetic tremor	144165	PRICKLE1	ORPHA:308
HP:0030186	Kinetic tremor	1476	CSTB	ORPHA:308
HP:0030186	Kinetic tremor	950	SCARB2	ORPHA:308
HP:0030186	Kinetic tremor	950	SCARB2	OMIM:254900
HP:0030186	Kinetic tremor	85300	ATCAY	ORPHA:94122
HP:0030186	Kinetic tremor	85300	ATCAY	OMIM:601238
HP:0030186	Kinetic tremor	3708	ITPR1	ORPHA:208513
HP:0030186	Kinetic tremor	3708	ITPR1	OMIM:117360
HP:0030186	Kinetic tremor	6712	SPTBN2	ORPHA:352403
HP:0030186	Kinetic tremor	6712	SPTBN2	OMIM:600224
HP:0030186	Kinetic tremor	6712	SPTBN2	OMIM:615386
HP:0030186	Kinetic tremor	57165	GJC2	OMIM:608804
HP:0030186	Kinetic tremor	57165	GJC2	OMIM:613206
HP:0030186	Kinetic tremor	221496	LEMD2	OMIM:619322
HP:0030186	Kinetic tremor	440193	CCDC88C	OMIM:616053
HP:0030186	Kinetic tremor	440193	CCDC88C	ORPHA:423275
HP:0030186	Kinetic tremor	23114	NFASC	OMIM:618356
HP:0030186	Kinetic tremor	51506	UFC1	OMIM:618076
HP:0030186	Kinetic tremor	5917	RARS1	ORPHA:438114
HP:0030186	Kinetic tremor	5917	RARS1	OMIM:616140
HP:0030186	Kinetic tremor	472	ATM	OMIM:208900
HP:0030186	Kinetic tremor	10501	SEMA6B	OMIM:618876
HP:0030186	Kinetic tremor	3781	KCNN2	OMIM:619725
HP:0030186	Kinetic tremor	343641	TGM6	OMIM:613908
HP:0030186	Kinetic tremor	343641	TGM6	ORPHA:276193
HP:0030186	Kinetic tremor	410	ARSA	ORPHA:309271
HP:0030186	Kinetic tremor	410	ARSA	ORPHA:309263
HP:0030186	Kinetic tremor	5660	PSAP	ORPHA:309271
HP:0030186	Kinetic tremor	5660	PSAP	ORPHA:309263
HP:0030186	Kinetic tremor	5660	PSAP	OMIM:610539
HP:0030186	Kinetic tremor	7345	UCHL1	OMIM:615491
HP:0030186	Kinetic tremor	7345	UCHL1	OMIM:620221
HP:0030186	Kinetic tremor	3766	KCNJ10	OMIM:612780
HP:0030186	Kinetic tremor	2058	EPRS1	OMIM:617951
HP:0030186	Kinetic tremor	7436	VLDLR	OMIM:224050
HP:0030186	Kinetic tremor	267010	RNU12	OMIM:620208
HP:0030186	Kinetic tremor	267010	RNU12	ORPHA:512260
HP:0030186	Kinetic tremor	91137	SLC25A46	OMIM:616505
HP:0030186	Kinetic tremor	7080	NKX2-1	ORPHA:209905
HP:0030186	Kinetic tremor	2332	FMR1	ORPHA:93256
HP:0030186	Kinetic tremor	2332	FMR1	OMIM:300623
HP:0030186	Kinetic tremor	7276	TTR	OMIM:105210
HP:0030186	Kinetic tremor	22	ABCB7	OMIM:301310
HP:0030186	Kinetic tremor	26278	SACS	ORPHA:98
HP:0030186	Kinetic tremor	9445	ITM2B	OMIM:117300
HP:0030186	Kinetic tremor	54968	TMEM70	OMIM:614052
HP:0030186	Kinetic tremor	54664	TMEM106B	OMIM:617964
HP:0030186	Kinetic tremor	26090	ABHD12	OMIM:612674
HP:0030186	Kinetic tremor	2705	GJB1	ORPHA:1175
HP:0030186	Kinetic tremor	84668	HYCC1	OMIM:610532
HP:0030186	Kinetic tremor	27010	TPK1	OMIM:614458
HP:0030186	Kinetic tremor	492	ATP2B3	ORPHA:314978
HP:0030186	Kinetic tremor	492	ATP2B3	OMIM:302500
HP:0030186	Kinetic tremor	2395	FXN	ORPHA:95
HP:0030186	Kinetic tremor	6908	TBP	OMIM:607136
HP:0030186	Kinetic tremor	10528	NOP56	ORPHA:276198
HP:0030186	Kinetic tremor	5373	PMM2	OMIM:212065
HP:0030186	Kinetic tremor	50801	KCNK4	OMIM:618381
HP:0030186	Kinetic tremor	56006	SMG9	OMIM:619995
HP:0030186	Kinetic tremor	9150	CTDP1	ORPHA:48431
HP:0030186	Kinetic tremor	6711	SPTBN1	OMIM:619475
HP:0030186	Kinetic tremor	55280	CWF19L1	OMIM:616127
HP:0030186	Kinetic tremor	55280	CWF19L1	ORPHA:453521
HP:0030186	Kinetic tremor	4361	MRE11	ORPHA:251347
HP:0030186	Kinetic tremor	4983	OPHN1	ORPHA:137831
HP:0030186	Kinetic tremor	54499	TMCO1	OMIM:213980
HP:0030186	Kinetic tremor	11128	POLR3A	OMIM:264090
HP:0030186	Kinetic tremor	11128	POLR3A	ORPHA:447896
HP:0030186	Kinetic tremor	5293	PIK3CD	ORPHA:221139
HP:0030186	Kinetic tremor	90417	KNSTRN	ORPHA:221139
HP:0030186	Kinetic tremor	10908	PNPLA6	OMIM:215470
HP:0030186	Kinetic tremor	5521	PPP2R2B	ORPHA:98762
HP:0030186	Kinetic tremor	5728	PTEN	OMIM:158350
HP:0030186	Kinetic tremor	54870	QRICH1	OMIM:617982
HP:0030186	Kinetic tremor	5192	PEX10	OMIM:614871
HP:0030186	Kinetic tremor	81562	LMAN2L	OMIM:617863
HP:0030186	Kinetic tremor	3295	HSD17B4	OMIM:233400
HP:0030186	Kinetic tremor	6785	ELOVL4	OMIM:133190
HP:0030186	Kinetic tremor	10667	FARS2	ORPHA:466722
HP:0030186	Kinetic tremor	55129	ANO10	ORPHA:284289
HP:0030186	Kinetic tremor	55129	ANO10	OMIM:613728
HP:0030186	Kinetic tremor	5981	RFC1	ORPHA:504476
HP:0030186	Kinetic tremor	4841	NONO	ORPHA:466791
HP:0030186	Kinetic tremor	2937	GSS	OMIM:266130
HP:0030186	Kinetic tremor	5354	PLP1	OMIM:312080
HP:0030186	Kinetic tremor	9725	TMEM63A	OMIM:618688
HP:0030186	Kinetic tremor	404672	GTF2H5	ORPHA:33364
HP:0030186	Kinetic tremor	833	CARS1	ORPHA:33364
HP:0030186	Kinetic tremor	2068	ERCC2	ORPHA:33364
HP:0030186	Kinetic tremor	7737	RNF113A	ORPHA:33364
HP:0030186	Kinetic tremor	136647	MPLKIP	ORPHA:33364
HP:0030186	Kinetic tremor	6897	TARS1	ORPHA:33364
HP:0030186	Kinetic tremor	2071	ERCC3	ORPHA:33364
HP:0030186	Kinetic tremor	2961	GTF2E2	ORPHA:33364
HP:0030186	Kinetic tremor	200403	VWA3B	OMIM:616948
HP:0030186	Kinetic tremor	57410	SCYL1	ORPHA:466794
HP:0030186	Kinetic tremor	54936	ADPRS	OMIM:618170
HP:0030186	Kinetic tremor	25793	FBXO7	ORPHA:171695
HP:0030186	Kinetic tremor	6622	SNCA	ORPHA:171695
HP:0030186	Kinetic tremor	5290	PIK3CA	OMIM:615108
HP:0030186	Kinetic tremor	207	AKT1	OMIM:615109
HP:0030186	Kinetic tremor	339453	TMEM240	OMIM:607454
HP:0030186	Kinetic tremor	6342	SCP2	OMIM:613724
HP:0030186	Kinetic tremor	8398	PLA2G6	OMIM:610217
HP:0030186	Kinetic tremor	4001	LMNB1	ORPHA:99027
HP:0030186	Kinetic tremor	5297	PI4KA	OMIM:619708
HP:0030186	Kinetic tremor	25814	ATXN10	ORPHA:98761
HP:0030186	Kinetic tremor	2898	GRIK2	OMIM:611092
HP:0030186	Kinetic tremor	4128	MAOA	OMIM:300615
HP:0030186	Kinetic tremor	10939	AFG3L2	ORPHA:101109
HP:0030186	Kinetic tremor	26011	TENM4	OMIM:616736
HP:0030186	Kinetic tremor	63929	XPNPEP3	OMIM:613159
HP:0030186	Kinetic tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0030186	Kinetic tremor	6311	ATXN2	ORPHA:98756
HP:0030186	Kinetic tremor	84919	PPP1R15B	OMIM:616817
HP:0030187	Titubation	16	AARS1	OMIM:619691
HP:0030187	Titubation	57165	GJC2	OMIM:608804
HP:0030187	Titubation	2521	FUS	ORPHA:300605
HP:0030187	Titubation	80208	SPG11	ORPHA:300605
HP:0030187	Titubation	10280	SIGMAR1	ORPHA:300605
HP:0030187	Titubation	10558	SPTLC1	ORPHA:300605
HP:0030187	Titubation	57679	ALS2	ORPHA:300605
HP:0030187	Titubation	57679	ALS2	OMIM:205100
HP:0030187	Titubation	84504	NKX6-2	OMIM:617560
HP:0030187	Titubation	84504	NKX6-2	ORPHA:527497
HP:0030187	Titubation	26275	HIBCH	ORPHA:88639
HP:0030187	Titubation	26275	HIBCH	OMIM:250620
HP:0030187	Titubation	7345	UCHL1	OMIM:615491
HP:0030187	Titubation	6711	SPTBN1	OMIM:619475
HP:0030187	Titubation	3329	HSPD1	OMIM:612233
HP:0030187	Titubation	267010	RNU12	OMIM:620208
HP:0030187	Titubation	23230	VPS13A	ORPHA:2388
HP:0030187	Titubation	9725	TMEM63A	OMIM:618688
HP:0030187	Titubation	5610	EIF2AK2	OMIM:618877
HP:0030187	Titubation	284217	LAMA1	ORPHA:370022
HP:0030187	Titubation	4001	LMNB1	ORPHA:99027
HP:0030187	Titubation	5297	PI4KA	OMIM:619708
HP:0030187	Titubation	1200	TPP1	OMIM:609270
HP:0030187	Titubation	54974	THG1L	OMIM:618800
HP:0030187	Titubation	3708	ITPR1	OMIM:117360
HP:0030187	Titubation	84668	HYCC1	OMIM:610532
HP:0030187	Titubation	28982	FLVCR1	ORPHA:88628
HP:0030187	Titubation	91452	ACBD5	OMIM:618863
HP:0030187	Titubation	80704	SLC19A3	OMIM:607483
HP:0030187	Titubation	221927	BRAT1	OMIM:618056
HP:0030187	Titubation	3475	IFRD1	ORPHA:98771
HP:0030187	Titubation	4099	MAG	ORPHA:459056
HP:0030187	Titubation	10749	KIF1C	ORPHA:397946
HP:0030187	Titubation	5354	PLP1	ORPHA:280210
HP:0030187	Titubation	5354	PLP1	ORPHA:280219
HP:0030187	Titubation	10531	PITRM1	OMIM:619405
HP:0030187	Titubation	3748	KCNC3	ORPHA:98768
HP:0030188	Tremor by anatomical site	25792	CIZ1	ORPHA:420492
HP:0030188	Tremor by anatomical site	3475	IFRD1	ORPHA:98771
HP:0030188	Tremor by anatomical site	23533	PIK3R5	ORPHA:64753
HP:0030188	Tremor by anatomical site	23064	SETX	ORPHA:64753
HP:0030188	Tremor by anatomical site	23064	SETX	OMIM:606002
HP:0030188	Tremor by anatomical site	100996717	NOTCH2NLC	OMIM:618866
HP:0030188	Tremor by anatomical site	1786	DNMT1	ORPHA:314404
HP:0030188	Tremor by anatomical site	5190	PEX6	ORPHA:95433
HP:0030188	Tremor by anatomical site	5354	PLP1	ORPHA:280219
HP:0030188	Tremor by anatomical site	10939	AFG3L2	ORPHA:101109
HP:0030188	Tremor by anatomical site	79628	SH3TC2	ORPHA:99949
HP:0030188	Tremor by anatomical site	9731	CEP104	OMIM:619988
HP:0030188	Tremor by anatomical site	81603	TRIM8	OMIM:619428
HP:0030188	Tremor by anatomical site	6342	SCP2	OMIM:613724
HP:0030188	Tremor by anatomical site	4884	NPTX1	OMIM:620158
HP:0030188	Tremor by anatomical site	11160	ERLIN2	ORPHA:280384
HP:0030188	Tremor by anatomical site	11160	ERLIN2	ORPHA:209951
HP:0030188	Tremor by anatomical site	388662	SLC6A17	ORPHA:457212
HP:0030188	Tremor by anatomical site	1861	TOR1A	OMIM:618947
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:271150
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:253400
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:253550
HP:0030188	Tremor by anatomical site	5165	PDK3	OMIM:300905
HP:0030188	Tremor by anatomical site	5165	PDK3	ORPHA:352675
HP:0030188	Tremor by anatomical site	7253	TSHR	ORPHA:99819
HP:0030188	Tremor by anatomical site	7253	TSHR	ORPHA:424
HP:0030188	Tremor by anatomical site	4803	NGF	OMIM:608654
HP:0030188	Tremor by anatomical site	6607	SMN2	OMIM:253400
HP:0030188	Tremor by anatomical site	6872	TAF1	ORPHA:53351
HP:0030188	Tremor by anatomical site	2259	FGF14	ORPHA:98764
HP:0030188	Tremor by anatomical site	151	ADRA2B	ORPHA:86814
HP:0030188	Tremor by anatomical site	55689	YEATS2	ORPHA:86814
HP:0030188	Tremor by anatomical site	1501	CTNND2	ORPHA:86814
HP:0030188	Tremor by anatomical site	10299	MARCHF6	ORPHA:86814
HP:0030188	Tremor by anatomical site	6900	CNTN2	ORPHA:86814
HP:0030188	Tremor by anatomical site	401474	SAMD12	ORPHA:86814
HP:0030188	Tremor by anatomical site	5375	PMP2	OMIM:618279
HP:0030188	Tremor by anatomical site	122553	TRAPPC6B	OMIM:617862
HP:0030188	Tremor by anatomical site	5155	PDGFB	OMIM:615483
HP:0030188	Tremor by anatomical site	23261	CAMTA1	OMIM:614756
HP:0030188	Tremor by anatomical site	57505	AARS2	OMIM:615889
HP:0030188	Tremor by anatomical site	3781	KCNN2	OMIM:619724
HP:0030188	Tremor by anatomical site	10342	TFG	OMIM:604484
HP:0030188	Tremor by anatomical site	7443	VRK1	OMIM:607596
HP:0030188	Tremor by anatomical site	540	ATP7B	OMIM:277900
HP:0030188	Tremor by anatomical site	2645	GCK	ORPHA:79299
HP:0030188	Tremor by anatomical site	63982	ANO3	ORPHA:420485
HP:0030188	Tremor by anatomical site	25782	RAB3GAP2	ORPHA:401830
HP:0030188	Tremor by anatomical site	10558	SPTLC1	OMIM:162400
HP:0030188	Tremor by anatomical site	4141	MARS1	ORPHA:401835
HP:0030188	Tremor by anatomical site	10273	STUB1	ORPHA:412057
HP:0030188	Tremor by anatomical site	57704	GBA2	OMIM:614409
HP:0030188	Tremor by anatomical site	51663	ZFR	ORPHA:401840
HP:0030188	Tremor by anatomical site	5428	POLG	OMIM:157640
HP:0030188	Tremor by anatomical site	55023	PHIP	ORPHA:589905
HP:0030188	Tremor by anatomical site	1814	DRD3	OMIM:190300
HP:0030188	Tremor by anatomical site	23503	ZFYVE26	ORPHA:100996
HP:0030188	Tremor by anatomical site	2705	GJB1	OMIM:302800
HP:0030188	Tremor by anatomical site	10058	ABCB6	OMIM:609153
HP:0030188	Tremor by anatomical site	8398	PLA2G6	OMIM:612953
HP:0030188	Tremor by anatomical site	57465	TBC1D24	OMIM:608105
HP:0030188	Tremor by anatomical site	4747	NEFL	ORPHA:101085
HP:0030188	Tremor by anatomical site	9927	MFN2	ORPHA:99947
HP:0030188	Tremor by anatomical site	10528	NOP56	ORPHA:276198
HP:0030188	Tremor by anatomical site	16	AARS1	OMIM:619691
HP:0030188	Tremor by anatomical site	57165	GJC2	OMIM:608804
HP:0030188	Tremor by anatomical site	2521	FUS	ORPHA:300605
HP:0030188	Tremor by anatomical site	80208	SPG11	ORPHA:300605
HP:0030188	Tremor by anatomical site	10280	SIGMAR1	ORPHA:300605
HP:0030188	Tremor by anatomical site	57679	ALS2	ORPHA:300605
HP:0030188	Tremor by anatomical site	57679	ALS2	OMIM:205100
HP:0030188	Tremor by anatomical site	84504	NKX6-2	OMIM:617560
HP:0030188	Tremor by anatomical site	84504	NKX6-2	ORPHA:527497
HP:0030188	Tremor by anatomical site	26275	HIBCH	ORPHA:88639
HP:0030188	Tremor by anatomical site	26275	HIBCH	OMIM:250620
HP:0030188	Tremor by anatomical site	7345	UCHL1	OMIM:615491
HP:0030188	Tremor by anatomical site	6711	SPTBN1	OMIM:619475
HP:0030188	Tremor by anatomical site	3329	HSPD1	OMIM:612233
HP:0030188	Tremor by anatomical site	267010	RNU12	OMIM:620208
HP:0030188	Tremor by anatomical site	23230	VPS13A	ORPHA:2388
HP:0030188	Tremor by anatomical site	9725	TMEM63A	OMIM:618688
HP:0030188	Tremor by anatomical site	5610	EIF2AK2	OMIM:618877
HP:0030188	Tremor by anatomical site	10749	KIF1C	OMIM:611302
HP:0030188	Tremor by anatomical site	284217	LAMA1	ORPHA:370022
HP:0030188	Tremor by anatomical site	5297	PI4KA	OMIM:619708
HP:0030188	Tremor by anatomical site	10382	TUBB4A	ORPHA:98805
HP:0030188	Tremor by anatomical site	1293	COL6A3	ORPHA:464440
HP:0030188	Tremor by anatomical site	3708	ITPR1	ORPHA:98769
HP:0030188	Tremor by anatomical site	8913	CACNA1G	ORPHA:458803
HP:0030188	Tremor by anatomical site	79587	CARS2	ORPHA:477774
HP:0030188	Tremor by anatomical site	4001	LMNB1	ORPHA:99027
HP:0030188	Tremor by anatomical site	4359	MPZ	OMIM:180800
HP:0030188	Tremor by anatomical site	5376	PMP22	OMIM:180800
HP:0030188	Tremor by anatomical site	5521	PPP2R2B	ORPHA:98762
HP:0030188	Tremor by anatomical site	22880	MORC2	ORPHA:466768
HP:0030188	Tremor by anatomical site	26011	TENM4	OMIM:616736
HP:0030188	Tremor by anatomical site	4604	MYBPC1	OMIM:618524
HP:0030188	Tremor by anatomical site	1203	CLN5	OMIM:256731
HP:0030188	Tremor by anatomical site	9409	PEX16	OMIM:614877
HP:0030188	Tremor by anatomical site	3704	ITPA	OMIM:616647
HP:0030188	Tremor by anatomical site	80055	PGAP1	ORPHA:401820
HP:0030188	Tremor by anatomical site	1644	DDC	OMIM:608643
HP:0030188	Tremor by anatomical site	2892	GRIA3	OMIM:300699
HP:0030188	Tremor by anatomical site	6638	SNRPN	OMIM:105830
HP:0030188	Tremor by anatomical site	7337	UBE3A	OMIM:105830
HP:0030188	Tremor by anatomical site	9578	CDC42BPB	OMIM:619841
HP:0030188	Tremor by anatomical site	9990	SLC12A6	OMIM:218000
HP:0030190	Oral motor hypotonia	1497	CTNS	OMIM:219800
HP:0030190	Oral motor hypotonia	3064	HTT	ORPHA:248111
HP:0030190	Oral motor hypotonia	29998	BICRA	OMIM:619325
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8292	COLQ	ORPHA:98915
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3913	LAMB2	ORPHA:98915
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1134	CHRNA1	OMIM:601462
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5339	PLEC	ORPHA:257
HP:0030191	Abnormal peripheral nervous system synaptic transmission	34	ACADM	ORPHA:42
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1145	CHRNE	OMIM:608931
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1145	CHRNE	OMIM:605809
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1144	CHRND	OMIM:616322
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1103	CHAT	OMIM:254210
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1103	CHAT	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4593	MUSK	OMIM:616325
HP:0030191	Abnormal peripheral nervous system synaptic transmission	844	CASQ1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84876	ORAI1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6786	STIM1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2767	GNA11	ORPHA:428
HP:0030191	Abnormal peripheral nervous system synaptic transmission	846	CASR	ORPHA:428
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6261	RYR1	ORPHA:424107
HP:0030191	Abnormal peripheral nervous system synaptic transmission	60482	SLC5A7	OMIM:617143
HP:0030191	Abnormal peripheral nervous system synaptic transmission	60482	SLC5A7	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10568	SLC34A2	ORPHA:60025
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6329	SCN4A	OMIM:614198
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6576	SLC25A1	OMIM:618197
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6576	SLC25A1	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6616	SNAP25	OMIM:616330
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6616	SNAP25	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1140	CHRNB1	OMIM:616313
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4649	MYO9A	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1305	COL13A1	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6843	VAMP1	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	375790	AGRN	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	127833	SYT2	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6572	SLC18A3	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	28976	ACAD9	ORPHA:99901
HP:0030191	Abnormal peripheral nervous system synaptic transmission	285489	DOK7	OMIM:254300
HP:0030191	Abnormal peripheral nervous system synaptic transmission	390594	KBTBD13	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	57190	SELENON	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4633	MYL2	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3679	ITGA7	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9200	HACD1	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	51776	MAP3K20	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10755	GIPC1	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	100996717	NOTCH2NLC	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	55768	NGLY1	ORPHA:404454
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4534	MTM1	ORPHA:596
HP:0030191	Abnormal peripheral nervous system synaptic transmission	22943	DKK1	ORPHA:268882
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84334	COA8	ORPHA:436271
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23175	LPIN1	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4512	MT-CO1	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4514	MT-CO3	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	50484	RRM2B	ORPHA:329336
HP:0030191	Abnormal peripheral nervous system synaptic transmission	246243	RNASEH1	ORPHA:329336
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1674	DES	ORPHA:98909
HP:0030191	Abnormal peripheral nervous system synaptic transmission	779	CACNA1S	ORPHA:681
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10008	KCNE3	ORPHA:681
HP:0030191	Abnormal peripheral nervous system synaptic transmission	25978	CHMP2B	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3178	HNRNPA1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8148	TAF15	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5445	PON2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9217	VAPB	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8878	SQSTM1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5630	PRPH	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29110	TBK1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	55830	GLT8D1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	755	CFAP410	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10891	PPARGC1A	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6647	SOD1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10133	OPTN	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1639	DCTN1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9896	FIG4	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5444	PON1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5446	PON3	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4744	NEFH	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5216	PFN1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9782	MATR3	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	54209	TREM2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7415	VCP	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	283	ANG	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23435	TARDBP	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29978	UBQLN2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2733	GLE1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2521	FUS	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4750	NEK1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2043	EPHA4	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6311	ATXN2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1610	DAO	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2066	ERBB4	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	311	ANXA11	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23025	UNC13A	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	899	CCNF	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	400916	CHCHD10	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	79147	FKRP	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29954	POMT2	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29954	POMT2	ORPHA:206559
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9215	LARGE1	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10585	POMT1	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	114034	TOE1	ORPHA:284339
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9562	MINPP1	ORPHA:284339
HP:0030191	Abnormal peripheral nervous system synaptic transmission	11155	LDB3	ORPHA:98912
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3094	HINT1	ORPHA:324442
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4038	LRP4	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5913	RAPSN	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	221264	AK9	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	51305	KCNK9	ORPHA:166108
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10342	TFG	ORPHA:90117
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2318	FLNC	ORPHA:63273
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84196	USP48	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7157	TP53	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9101	USP8	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	64072	CDH23	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2908	NR3C1	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	673	BRAF	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	546	ATRX	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	58	ACTA1	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7169	TPM2	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7169	TPM2	ORPHA:171881
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4703	NEB	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10324	KLHL41	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	56203	LMOD3	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1073	CFL2	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23345	SYNE1	ORPHA:319332
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84665	MYPN	ORPHA:171881
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7170	TPM3	ORPHA:171881
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29925	GMPPB	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2673	GFPT1	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1798	DPAGT1	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	85365	ALG2	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	199857	ALG14	ORPHA:353327
HP:0030192	Fatigable weakness of bulbar muscles	1674	DES	ORPHA:98909
HP:0030192	Fatigable weakness of bulbar muscles	84665	MYPN	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	58	ACTA1	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	58	ACTA1	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	7169	TPM2	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7169	TPM2	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	390594	KBTBD13	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	4703	NEB	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	10324	KLHL41	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7170	TPM3	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7170	TPM3	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	57190	SELENON	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	4633	MYL2	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	3679	ITGA7	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	9200	HACD1	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	51776	MAP3K20	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	29925	GMPPB	ORPHA:363623
HP:0030192	Fatigable weakness of bulbar muscles	10755	GIPC1	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	100996717	NOTCH2NLC	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	55768	NGLY1	ORPHA:404454
HP:0030192	Fatigable weakness of bulbar muscles	4534	MTM1	ORPHA:596
HP:0030192	Fatigable weakness of bulbar muscles	22943	DKK1	ORPHA:268882
HP:0030192	Fatigable weakness of bulbar muscles	84334	COA8	ORPHA:436271
HP:0030192	Fatigable weakness of bulbar muscles	23175	LPIN1	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	4512	MT-CO1	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	4514	MT-CO3	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	25978	CHMP2B	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	3178	HNRNPA1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	8148	TAF15	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5445	PON2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9217	VAPB	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	8878	SQSTM1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5630	PRPH	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	29110	TBK1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	55830	GLT8D1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	755	CFAP410	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	10891	PPARGC1A	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	6647	SOD1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	10133	OPTN	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	1639	DCTN1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9896	FIG4	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5444	PON1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5446	PON3	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	4744	NEFH	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5216	PFN1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9782	MATR3	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	54209	TREM2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	7415	VCP	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	283	ANG	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	23435	TARDBP	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	29978	UBQLN2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2733	GLE1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2521	FUS	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	4750	NEK1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2043	EPHA4	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	6311	ATXN2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	1610	DAO	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2066	ERBB4	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	311	ANXA11	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	23025	UNC13A	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	899	CCNF	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	400916	CHCHD10	ORPHA:803
HP:0030194	Fatigable weakness of speech muscles	55768	NGLY1	ORPHA:404454
HP:0030195	Fatigable weakness of swallowing muscles	4534	MTM1	ORPHA:596
HP:0030195	Fatigable weakness of swallowing muscles	22943	DKK1	ORPHA:268882
HP:0030195	Fatigable weakness of swallowing muscles	84334	COA8	ORPHA:436271
HP:0030195	Fatigable weakness of swallowing muscles	23175	LPIN1	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	4512	MT-CO1	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	4514	MT-CO3	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	25978	CHMP2B	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	3178	HNRNPA1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	8148	TAF15	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5445	PON2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9217	VAPB	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	8878	SQSTM1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5630	PRPH	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	29110	TBK1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	55830	GLT8D1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	755	CFAP410	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	10891	PPARGC1A	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	6647	SOD1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	10133	OPTN	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	1639	DCTN1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9896	FIG4	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5444	PON1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5446	PON3	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	4744	NEFH	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5216	PFN1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9782	MATR3	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	54209	TREM2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	7415	VCP	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	283	ANG	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	23435	TARDBP	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	29978	UBQLN2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2733	GLE1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2521	FUS	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	4750	NEK1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2043	EPHA4	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	6311	ATXN2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	1610	DAO	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2066	ERBB4	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	311	ANXA11	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	23025	UNC13A	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	899	CCNF	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	400916	CHCHD10	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	50484	RRM2B	ORPHA:329336
HP:0030196	Fatigable weakness of respiratory muscles	246243	RNASEH1	ORPHA:329336
HP:0030196	Fatigable weakness of respiratory muscles	1674	DES	ORPHA:98909
HP:0030196	Fatigable weakness of respiratory muscles	6329	SCN4A	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	6329	SCN4A	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	779	CACNA1S	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	10008	KCNE3	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	58	ACTA1	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	7169	TPM2	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	4703	NEB	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	10324	KLHL41	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	56203	LMOD3	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	1073	CFL2	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	25978	CHMP2B	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	3178	HNRNPA1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	8148	TAF15	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5445	PON2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9217	VAPB	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	8878	SQSTM1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5630	PRPH	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	29110	TBK1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	55830	GLT8D1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	755	CFAP410	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	10891	PPARGC1A	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	6647	SOD1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	10133	OPTN	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1639	DCTN1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9896	FIG4	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5444	PON1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5446	PON3	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	4744	NEFH	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5216	PFN1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9782	MATR3	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	54209	TREM2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	7415	VCP	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	283	ANG	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	23435	TARDBP	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	29978	UBQLN2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2733	GLE1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2521	FUS	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	4750	NEK1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2043	EPHA4	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	6311	ATXN2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1610	DAO	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2066	ERBB4	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	311	ANXA11	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	23025	UNC13A	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	899	CCNF	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	400916	CHCHD10	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1134	CHRNA1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	4038	LRP4	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1305	COL13A1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1140	CHRNB1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1144	CHRND	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1145	CHRNE	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	4593	MUSK	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	5913	RAPSN	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	375790	AGRN	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	221264	AK9	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	285489	DOK7	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	6572	SLC18A3	OMIM:617239
HP:0030197	Fatigable weakness of skeletal muscles	29925	GMPPB	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	79147	FKRP	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	29954	POMT2	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	29954	POMT2	ORPHA:206559
HP:0030197	Fatigable weakness of skeletal muscles	9215	LARGE1	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	10585	POMT1	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	114034	TOE1	ORPHA:284339
HP:0030197	Fatigable weakness of skeletal muscles	9562	MINPP1	ORPHA:284339
HP:0030197	Fatigable weakness of skeletal muscles	11155	LDB3	ORPHA:98912
HP:0030197	Fatigable weakness of skeletal muscles	3094	HINT1	ORPHA:324442
HP:0030197	Fatigable weakness of skeletal muscles	34	ACADM	ORPHA:42
HP:0030197	Fatigable weakness of skeletal muscles	6329	SCN4A	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1134	CHRNA1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	4038	LRP4	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1305	COL13A1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1140	CHRNB1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1144	CHRND	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1145	CHRNE	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	4593	MUSK	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	5913	RAPSN	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	375790	AGRN	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	221264	AK9	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	285489	DOK7	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	51305	KCNK9	ORPHA:166108
HP:0030197	Fatigable weakness of skeletal muscles	10342	TFG	ORPHA:90117
HP:0030197	Fatigable weakness of skeletal muscles	2318	FLNC	ORPHA:63273
HP:0030197	Fatigable weakness of skeletal muscles	84196	USP48	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	7157	TP53	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	9101	USP8	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	64072	CDH23	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	2908	NR3C1	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	673	BRAF	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	546	ATRX	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	58	ACTA1	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	7169	TPM2	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	7169	TPM2	ORPHA:171881
HP:0030197	Fatigable weakness of skeletal muscles	4703	NEB	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	10324	KLHL41	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	56203	LMOD3	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	1073	CFL2	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	844	CASQ1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	84876	ORAI1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	6786	STIM1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	23345	SYNE1	ORPHA:319332
HP:0030197	Fatigable weakness of skeletal muscles	84665	MYPN	ORPHA:171881
HP:0030197	Fatigable weakness of skeletal muscles	7170	TPM3	ORPHA:171881
HP:0030198	Fatigable weakness of distal limb muscles	58	ACTA1	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	7169	TPM2	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	4703	NEB	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	10324	KLHL41	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	56203	LMOD3	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	1073	CFL2	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	11155	LDB3	ORPHA:98912
HP:0030198	Fatigable weakness of distal limb muscles	3094	HINT1	ORPHA:324442
HP:0030199	Fatigable weakness of neck muscles	34	ACADM	ORPHA:42
HP:0030199	Fatigable weakness of neck muscles	6329	SCN4A	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1134	CHRNA1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	4038	LRP4	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1305	COL13A1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1140	CHRNB1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1144	CHRND	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1145	CHRNE	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	4593	MUSK	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	5913	RAPSN	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	375790	AGRN	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	221264	AK9	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	285489	DOK7	ORPHA:98913
HP:0001800	Hypoplastic toenails	3981	LIG4	ORPHA:235
HP:0001800	Hypoplastic toenails	54888	NSUN2	ORPHA:235
HP:0001800	Hypoplastic toenails	9997	SCO2	OMIM:604377
HP:0001800	Hypoplastic toenails	5281	PIGF	OMIM:619356
HP:0001800	Hypoplastic toenails	81607	NECTIN4	OMIM:613573
HP:0001800	Hypoplastic toenails	9894	TELO2	ORPHA:488642
HP:0001800	Hypoplastic toenails	6804	STX1A	ORPHA:904
HP:0001800	Hypoplastic toenails	7461	CLIP2	ORPHA:904
HP:0001800	Hypoplastic toenails	84277	DNAJC30	ORPHA:904
HP:0001800	Hypoplastic toenails	8468	FKBP6	ORPHA:904
HP:0001800	Hypoplastic toenails	5982	RFC2	ORPHA:904
HP:0001800	Hypoplastic toenails	2969	GTF2I	ORPHA:904
HP:0001800	Hypoplastic toenails	3984	LIMK1	ORPHA:904
HP:0001800	Hypoplastic toenails	9569	GTF2IRD1	ORPHA:904
HP:0001800	Hypoplastic toenails	155382	VPS37D	ORPHA:904
HP:0001800	Hypoplastic toenails	155368	METTL27	ORPHA:904
HP:0001800	Hypoplastic toenails	114049	BUD23	ORPHA:904
HP:0001800	Hypoplastic toenails	7458	EIF4H	ORPHA:904
HP:0001800	Hypoplastic toenails	84163	GTF2IRD2	ORPHA:904
HP:0001800	Hypoplastic toenails	9275	BCL7B	ORPHA:904
HP:0001800	Hypoplastic toenails	26608	TBL2	ORPHA:904
HP:0001800	Hypoplastic toenails	653361	NCF1	ORPHA:904
HP:0001800	Hypoplastic toenails	135886	TMEM270	ORPHA:904
HP:0001800	Hypoplastic toenails	51085	MLXIPL	ORPHA:904
HP:0001800	Hypoplastic toenails	9031	BAZ1B	ORPHA:904
HP:0001800	Hypoplastic toenails	2006	ELN	ORPHA:904
HP:0001800	Hypoplastic toenails	3636	INPPL1	ORPHA:3144
HP:0001800	Hypoplastic toenails	23169	SLC35D1	ORPHA:3144
HP:0001800	Hypoplastic toenails	85358	SHANK3	OMIM:606232
HP:0001800	Hypoplastic toenails	85358	SHANK3	ORPHA:48652
HP:0001800	Hypoplastic toenails	23028	KDM1A	OMIM:616728
HP:0001800	Hypoplastic toenails	23028	KDM1A	ORPHA:477993
HP:0001800	Hypoplastic toenails	27125	AFF4	ORPHA:444077
HP:0001800	Hypoplastic toenails	9496	TBX4	ORPHA:238578
HP:0001800	Hypoplastic toenails	57465	TBC1D24	OMIM:220500
HP:0001800	Hypoplastic toenails	7750	ZMYM2	OMIM:619522
HP:0001800	Hypoplastic toenails	54101	RIPK4	ORPHA:1234
HP:0001800	Hypoplastic toenails	4953	ODC1	ORPHA:544488
HP:0001800	Hypoplastic toenails	79971	WLS	OMIM:619648
HP:0001800	Hypoplastic toenails	526	ATP6V1B2	ORPHA:79499
HP:0001800	Hypoplastic toenails	6926	TBX3	ORPHA:3138
HP:0001800	Hypoplastic toenails	79068	FTO	OMIM:612938
HP:0001800	Hypoplastic toenails	7547	ZIC3	OMIM:306955
HP:0001800	Hypoplastic toenails	1376	CPT2	OMIM:608836
HP:0001800	Hypoplastic toenails	285203	EOGT	OMIM:615297
HP:0001800	Hypoplastic toenails	1984	EIF5A	OMIM:619376
HP:0001800	Hypoplastic toenails	54567	DLL4	OMIM:616589
HP:0001800	Hypoplastic toenails	4851	NOTCH1	OMIM:616028
HP:0001800	Hypoplastic toenails	2260	FGFR1	OMIM:166250
HP:0001800	Hypoplastic toenails	1801	DPH1	OMIM:616901
HP:0001800	Hypoplastic toenails	1801	DPH1	ORPHA:459061
HP:0001800	Hypoplastic toenails	26123	TCTN3	ORPHA:2753
HP:0001800	Hypoplastic toenails	64324	NSD1	ORPHA:3447
HP:0001800	Hypoplastic toenails	8726	EED	ORPHA:3447
HP:0001800	Hypoplastic toenails	23512	SUZ12	ORPHA:3447
HP:0001800	Hypoplastic toenails	2146	EZH2	ORPHA:3447
HP:0001800	Hypoplastic toenails	3265	HRAS	ORPHA:3071
HP:0001800	Hypoplastic toenails	5566	PRKACA	ORPHA:289
HP:0001800	Hypoplastic toenails	5567	PRKACB	ORPHA:289
HP:0001800	Hypoplastic toenails	2735	GLI1	ORPHA:289
HP:0001800	Hypoplastic toenails	2121	EVC	ORPHA:289
HP:0001800	Hypoplastic toenails	2121	EVC	ORPHA:952
HP:0001800	Hypoplastic toenails	51626	DYNC2LI1	ORPHA:289
HP:0001800	Hypoplastic toenails	132884	EVC2	ORPHA:289
HP:0001800	Hypoplastic toenails	132884	EVC2	ORPHA:952
HP:0001800	Hypoplastic toenails	1301	COL11A1	OMIM:228520
HP:0001800	Hypoplastic toenails	8036	SHOC2	ORPHA:2701
HP:0001800	Hypoplastic toenails	5500	PPP1CB	ORPHA:2701
HP:0001800	Hypoplastic toenails	4487	MSX1	ORPHA:2228
HP:0001800	Hypoplastic toenails	6597	SMARCA4	ORPHA:1465
HP:0001800	Hypoplastic toenails	6598	SMARCB1	ORPHA:1465
HP:0001800	Hypoplastic toenails	6659	SOX4	ORPHA:1465
HP:0001800	Hypoplastic toenails	8289	ARID1A	ORPHA:1465
HP:0001800	Hypoplastic toenails	5977	DPF2	ORPHA:1465
HP:0001800	Hypoplastic toenails	5977	DPF2	OMIM:618027
HP:0001800	Hypoplastic toenails	6601	SMARCC2	ORPHA:1465
HP:0001800	Hypoplastic toenails	6602	SMARCD1	ORPHA:1465
HP:0001800	Hypoplastic toenails	57492	ARID1B	ORPHA:1465
HP:0001800	Hypoplastic toenails	196528	ARID2	ORPHA:1465
HP:0001800	Hypoplastic toenails	6605	SMARCE1	ORPHA:1465
HP:0001800	Hypoplastic toenails	6664	SOX11	ORPHA:1465
HP:0001800	Hypoplastic toenails	6664	SOX11	OMIM:615866
HP:0001800	Hypoplastic toenails	6418	SET	OMIM:618106
HP:0001800	Hypoplastic toenails	5528	PPP2R5D	ORPHA:457279
HP:0001800	Hypoplastic toenails	3209	HOXA13	ORPHA:2438
HP:0001800	Hypoplastic toenails	3852	KRT5	OMIM:131960
HP:0001807	Ridged nail	3861	KRT14	OMIM:601001
HP:0001807	Ridged nail	3861	KRT14	ORPHA:89838
HP:0001807	Ridged nail	64840	PORCN	OMIM:305600
HP:0001807	Ridged nail	4487	MSX1	OMIM:189500
HP:0001807	Ridged nail	1947	EFNB1	OMIM:304110
HP:0001807	Ridged nail	80326	WNT10A	OMIM:224750
HP:0001807	Ridged nail	80326	WNT10A	OMIM:257980
HP:0001807	Ridged nail	1513	CTSK	OMIM:265800
HP:0001807	Ridged nail	1513	CTSK	ORPHA:763
HP:0001807	Ridged nail	8456	FOXN1	OMIM:601705
HP:0001807	Ridged nail	8456	FOXN1	ORPHA:169095
HP:0001807	Ridged nail	545	ATR	OMIM:614564
HP:0001807	Ridged nail	404672	GTF2H5	ORPHA:33364
HP:0001807	Ridged nail	833	CARS1	ORPHA:33364
HP:0001807	Ridged nail	2068	ERCC2	ORPHA:33364
HP:0001807	Ridged nail	7737	RNF113A	ORPHA:33364
HP:0001807	Ridged nail	136647	MPLKIP	ORPHA:33364
HP:0001807	Ridged nail	6897	TARS1	ORPHA:33364
HP:0001807	Ridged nail	2071	ERCC3	ORPHA:33364
HP:0001807	Ridged nail	2961	GTF2E2	ORPHA:33364
HP:0001807	Ridged nail	1736	DKC1	OMIM:305000
HP:0001807	Ridged nail	128178	EDARADD	OMIM:129490
HP:0001807	Ridged nail	10913	EDAR	OMIM:129490
HP:0001807	Ridged nail	4010	LMX1B	OMIM:161200
HP:0001807	Ridged nail	55630	SLC39A4	ORPHA:37
HP:0001807	Ridged nail	488	ATP2A2	OMIM:101900
HP:0001807	Ridged nail	488	ATP2A2	OMIM:124200
HP:0001807	Ridged nail	55612	FERMT1	OMIM:173650
HP:0001807	Ridged nail	10161	LPAR6	OMIM:278150
HP:0001807	Ridged nail	2697	GJA1	ORPHA:1010
HP:0001807	Ridged nail	8517	IKBKG	OMIM:308300
HP:0001807	Ridged nail	26277	TINF2	OMIM:127550
HP:0001807	Ridged nail	7012	TERC	OMIM:127550
HP:0001807	Ridged nail	7015	TERT	OMIM:127550
HP:0001802	Absent toenail	2239	GPC4	OMIM:301026
HP:0001802	Absent toenail	64840	PORCN	OMIM:305600
HP:0001802	Absent toenail	3861	KRT14	ORPHA:89838
HP:0001802	Absent toenail	1294	COL7A1	ORPHA:231568
HP:0001802	Absent toenail	1294	COL7A1	ORPHA:158676
HP:0001802	Absent toenail	1294	COL7A1	ORPHA:89842
HP:0001802	Absent toenail	1832	DSP	ORPHA:158687
HP:0001802	Absent toenail	3728	JUP	ORPHA:158687
HP:0001802	Absent toenail	613	BCR	ORPHA:261330
HP:0001802	Absent toenail	1399	CRKL	ORPHA:261330
HP:0001802	Absent toenail	5594	MAPK1	ORPHA:261330
HP:0001802	Absent toenail	7476	WNT7A	OMIM:228930
HP:0001802	Absent toenail	4851	NOTCH1	OMIM:616028
HP:0001802	Absent toenail	3782	KCNN3	OMIM:618658
HP:0001802	Absent toenail	526	ATP6V1B2	OMIM:124480
HP:0001802	Absent toenail	526	ATP6V1B2	ORPHA:79499
HP:0001802	Absent toenail	4038	LRP4	ORPHA:3258
HP:0001802	Absent toenail	324	APC	ORPHA:3258
HP:0001802	Absent toenail	3756	KCNH1	ORPHA:420561
HP:0001802	Absent toenail	8289	ARID1A	OMIM:614607
HP:0001802	Absent toenail	5281	PIGF	OMIM:619356
HP:0001803	Nail pits	4487	MSX1	OMIM:189500
HP:0001803	Nail pits	26277	TINF2	OMIM:268130
HP:0001803	Nail pits	26277	TINF2	OMIM:127550
HP:0001803	Nail pits	8456	FOXN1	ORPHA:169095
HP:0001803	Nail pits	8456	FOXN1	OMIM:601705
HP:0001803	Nail pits	51506	UFC1	OMIM:618076
HP:0001803	Nail pits	3107	HLA-C	OMIM:177900
HP:0001803	Nail pits	8626	TP63	ORPHA:1896
HP:0001803	Nail pits	8626	TP63	ORPHA:978
HP:0001803	Nail pits	8626	TP63	OMIM:103285
HP:0001803	Nail pits	8626	TP63	OMIM:604292
HP:0001803	Nail pits	10161	LPAR6	OMIM:278150
HP:0001803	Nail pits	8517	IKBKG	OMIM:308300
HP:0001803	Nail pits	7012	TERC	OMIM:127550
HP:0001803	Nail pits	7015	TERT	OMIM:127550
HP:0001804	Hypoplastic fingernail	5339	PLEC	ORPHA:257
HP:0001804	Hypoplastic fingernail	6197	RPS6KA3	ORPHA:192
HP:0001804	Hypoplastic fingernail	51360	MBTPS2	ORPHA:2273
HP:0001804	Hypoplastic fingernail	57061	HYMAI	ORPHA:96191
HP:0001804	Hypoplastic fingernail	5325	PLAGL1	ORPHA:96191
HP:0001804	Hypoplastic fingernail	9791	PTDSS1	ORPHA:2658
HP:0001804	Hypoplastic fingernail	23556	PIGN	ORPHA:2059
HP:0001804	Hypoplastic fingernail	23556	PIGN	ORPHA:280633
HP:0001804	Hypoplastic fingernail	23219	FBXO28	OMIM:619777
HP:0001804	Hypoplastic fingernail	80152	CENPT	OMIM:618702
HP:0001804	Hypoplastic fingernail	84720	PIGO	OMIM:614749
HP:0001804	Hypoplastic fingernail	8517	IKBKG	ORPHA:464
HP:0001804	Hypoplastic fingernail	9897	WASHC5	ORPHA:7
HP:0001804	Hypoplastic fingernail	28952	CCDC22	ORPHA:7
HP:0001804	Hypoplastic fingernail	7020	TFAP2A	OMIM:113620
HP:0001804	Hypoplastic fingernail	6473	SHOX	ORPHA:240
HP:0001804	Hypoplastic fingernail	57465	TBC1D24	OMIM:220500
HP:0001804	Hypoplastic fingernail	117581	TWIST2	OMIM:200110
HP:0001804	Hypoplastic fingernail	1301	COL11A1	OMIM:228520
HP:0001804	Hypoplastic fingernail	1301	COL11A1	ORPHA:2021
HP:0001804	Hypoplastic fingernail	4920	ROR2	OMIM:113000
HP:0001804	Hypoplastic fingernail	3481	IGF2	ORPHA:397590
HP:0001804	Hypoplastic fingernail	1028	CDKN1C	ORPHA:397590
HP:0001804	Hypoplastic fingernail	5324	PLAG1	ORPHA:397590
HP:0001804	Hypoplastic fingernail	8091	HMGA2	ORPHA:397590
HP:0001804	Hypoplastic fingernail	2263	FGFR2	OMIM:123790
HP:0001804	Hypoplastic fingernail	1302	COL11A2	ORPHA:2021
HP:0001804	Hypoplastic fingernail	526	ATP6V1B2	ORPHA:3473
HP:0001804	Hypoplastic fingernail	3782	KCNN3	ORPHA:3473
HP:0001804	Hypoplastic fingernail	3516	RBPJ	ORPHA:974
HP:0001804	Hypoplastic fingernail	4851	NOTCH1	ORPHA:974
HP:0001804	Hypoplastic fingernail	57514	ARHGAP31	ORPHA:974
HP:0001804	Hypoplastic fingernail	57572	DOCK6	ORPHA:974
HP:0001804	Hypoplastic fingernail	285203	EOGT	ORPHA:974
HP:0001804	Hypoplastic fingernail	54567	DLL4	ORPHA:974
HP:0001804	Hypoplastic fingernail	58499	ZNF462	OMIM:618619
HP:0001804	Hypoplastic fingernail	4487	MSX1	ORPHA:2228
HP:0001804	Hypoplastic fingernail	168667	BMPER	OMIM:608022
HP:0001804	Hypoplastic fingernail	6597	SMARCA4	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6598	SMARCB1	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6659	SOX4	ORPHA:1465
HP:0001804	Hypoplastic fingernail	8289	ARID1A	ORPHA:1465
HP:0001804	Hypoplastic fingernail	5977	DPF2	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6601	SMARCC2	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6602	SMARCD1	ORPHA:1465
HP:0001804	Hypoplastic fingernail	57492	ARID1B	ORPHA:1465
HP:0001804	Hypoplastic fingernail	57492	ARID1B	OMIM:135900
HP:0001804	Hypoplastic fingernail	196528	ARID2	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6605	SMARCE1	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6664	SOX11	ORPHA:1465
HP:0001804	Hypoplastic fingernail	6664	SOX11	OMIM:615866
HP:0001804	Hypoplastic fingernail	27315	PGAP2	OMIM:614207
HP:0001804	Hypoplastic fingernail	5281	PIGF	OMIM:619356
HP:0001804	Hypoplastic fingernail	3756	KCNH1	ORPHA:420561
HP:0001804	Hypoplastic fingernail	3756	KCNH1	OMIM:611816
HP:0001805	Onychogryposis	10804	GJB6	ORPHA:477
HP:0001805	Onychogryposis	2706	GJB2	ORPHA:477
HP:0001805	Onychogryposis	3861	KRT14	OMIM:601001
HP:0001805	Onychogryposis	3861	KRT14	ORPHA:79396
HP:0001805	Onychogryposis	1075	CTSC	OMIM:245010
HP:0001805	Onychogryposis	3852	KRT5	OMIM:131960
HP:0001805	Onychogryposis	3852	KRT5	ORPHA:79396
HP:0001805	Onychogryposis	3889	KRT83	OMIM:617756
HP:0001805	Onychogryposis	57728	WDR19	OMIM:614378
HP:0001805	Onychogryposis	3691	ITGB4	OMIM:619816
HP:0001805	Onychogryposis	6868	ADAM17	OMIM:614328
HP:0001805	Onychogryposis	6868	ADAM17	ORPHA:294023
HP:0001805	Onychogryposis	3248	HPGD	ORPHA:217059
HP:0001805	Onychogryposis	4000	LMNA	OMIM:248370
HP:0001805	Onychogryposis	4014	LORICRIN	ORPHA:79395
HP:0001805	Onychogryposis	8517	IKBKG	OMIM:308300
HP:0001805	Onychogryposis	8626	TP63	OMIM:129400
HP:0001805	Onychogryposis	57688	ZSWIM6	OMIM:603671
HP:0001805	Onychogryposis	1956	EGFR	ORPHA:294023
HP:0001805	Onychogryposis	5339	PLEC	OMIM:131950
HP:0001805	Onychogryposis	54800	KLHL24	OMIM:617294
HP:0001805	Onychogryposis	3643	INSR	OMIM:262190
HP:0001805	Onychogryposis	3643	INSR	ORPHA:769
HP:0001805	Onychogryposis	8323	FZD6	OMIM:161050
HP:0001805	Onychogryposis	1857	DVL3	ORPHA:3107
HP:0001805	Onychogryposis	7474	WNT5A	ORPHA:3107
HP:0001805	Onychogryposis	1855	DVL1	ORPHA:3107
HP:0001805	Onychogryposis	2535	FZD2	ORPHA:3107
HP:0001805	Onychogryposis	1294	COL7A1	ORPHA:158676
HP:0001805	Onychogryposis	3868	KRT16	ORPHA:2309
HP:0001805	Onychogryposis	3872	KRT17	ORPHA:2309
HP:0001805	Onychogryposis	3853	KRT6A	ORPHA:2309
HP:0001805	Onychogryposis	3854	KRT6B	ORPHA:2309
HP:0001806	Onycholysis	64135	IFIH1	OMIM:182250
HP:0001806	Onycholysis	3861	KRT14	ORPHA:69087
HP:0001806	Onycholysis	3728	JUP	OMIM:601214
HP:0001806	Onycholysis	80326	WNT10A	OMIM:224750
HP:0001806	Onycholysis	831	CAST	OMIM:616295
HP:0001806	Onycholysis	8323	FZD6	OMIM:161050
HP:0001806	Onycholysis	545	ATR	OMIM:614564
HP:0001806	Onycholysis	7389	UROD	OMIM:176100
HP:0001806	Onycholysis	3077	HFE	OMIM:176100
HP:0001806	Onycholysis	3675	ITGA3	OMIM:614748
HP:0001806	Onycholysis	121391	KRT74	OMIM:614929
HP:0001806	Onycholysis	3891	KRT85	OMIM:602032
HP:0001806	Onycholysis	10804	GJB6	OMIM:129500
HP:0001806	Onycholysis	1041	CDSN	OMIM:270300
HP:0001806	Onycholysis	1828	DSG1	OMIM:148700
HP:0001806	Onycholysis	1294	COL7A1	ORPHA:231568
HP:0001806	Onycholysis	1294	COL7A1	ORPHA:158673
HP:0001806	Onycholysis	3909	LAMA3	OMIM:245660
HP:0001806	Onycholysis	3691	ITGB4	OMIM:619816
HP:0001806	Onycholysis	3852	KRT5	OMIM:619594
HP:0001806	Onycholysis	3107	HLA-C	OMIM:177900
HP:0001809	Split nail	1947	EFNB1	OMIM:304110
HP:0001809	Split nail	404672	GTF2H5	ORPHA:33364
HP:0001809	Split nail	833	CARS1	ORPHA:33364
HP:0001809	Split nail	2068	ERCC2	ORPHA:33364
HP:0001809	Split nail	7737	RNF113A	ORPHA:33364
HP:0001809	Split nail	136647	MPLKIP	ORPHA:33364
HP:0001809	Split nail	6897	TARS1	ORPHA:33364
HP:0001809	Split nail	2071	ERCC3	ORPHA:33364
HP:0001809	Split nail	2961	GTF2E2	ORPHA:33364
HP:0001809	Split nail	1736	DKC1	OMIM:305000
HP:0001810	Dystrophic toenail	6335	SCN9A	ORPHA:970
HP:0001810	Dystrophic toenail	65125	WNK1	ORPHA:970
HP:0001810	Dystrophic toenail	54463	RETREG1	ORPHA:970
HP:0001810	Dystrophic toenail	547	KIF1A	ORPHA:970
HP:0001810	Dystrophic toenail	1294	COL7A1	OMIM:607523
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:231568
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:158676
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:158673
HP:0001810	Dystrophic toenail	3861	KRT14	ORPHA:89838
HP:0001810	Dystrophic toenail	3861	KRT14	ORPHA:69087
HP:0001810	Dystrophic toenail	54800	KLHL24	OMIM:617294
HP:0001810	Dystrophic toenail	3852	KRT5	OMIM:619594
HP:0001810	Dystrophic toenail	80326	WNT10A	OMIM:150400
HP:0001810	Dystrophic toenail	80326	WNT10A	OMIM:257980
HP:0001810	Dystrophic toenail	4851	NOTCH1	OMIM:616028
HP:0001810	Dystrophic toenail	121391	KRT74	OMIM:614929
HP:0001810	Dystrophic toenail	8517	IKBKG	ORPHA:464
HP:0001810	Dystrophic toenail	7879	RAB7A	OMIM:600882
HP:0001810	Dystrophic toenail	4000	LMNA	ORPHA:740
HP:0001810	Dystrophic toenail	10269	ZMPSTE24	ORPHA:740
HP:0001810	Dystrophic toenail	64065	PERP	OMIM:619209
HP:0001810	Dystrophic toenail	860	RUNX2	ORPHA:1452
HP:0001810	Dystrophic toenail	667	DST	OMIM:615425
HP:0001810	Dystrophic toenail	5818	NECTIN1	ORPHA:3253
HP:0001810	Dystrophic toenail	6605	SMARCE1	OMIM:616938
HP:0001810	Dystrophic toenail	1308	COL17A1	ORPHA:251393
HP:0001810	Dystrophic toenail	3691	ITGB4	ORPHA:251393
HP:0001814	Deep-set nails	3265	HRAS	ORPHA:3071
HP:0001814	Deep-set nails	3265	HRAS	OMIM:218040
HP:0001814	Deep-set nails	2146	EZH2	OMIM:277590
HP:0001814	Deep-set nails	2146	EZH2	ORPHA:3447
HP:0001814	Deep-set nails	64324	NSD1	ORPHA:3447
HP:0001814	Deep-set nails	8726	EED	ORPHA:3447
HP:0001814	Deep-set nails	23512	SUZ12	ORPHA:3447
HP:0001816	Thin nail	242	ALOX12B	OMIM:242100
HP:0001816	Thin nail	59344	ALOXE3	OMIM:242100
HP:0001816	Thin nail	8726	EED	OMIM:617561
HP:0001816	Thin nail	8726	EED	ORPHA:3447
HP:0001816	Thin nail	80326	WNT10A	OMIM:224750
HP:0001816	Thin nail	80326	WNT10A	OMIM:257980
HP:0001816	Thin nail	816	CAMK2B	OMIM:617799
HP:0001816	Thin nail	7227	TRPS1	OMIM:190350
HP:0001816	Thin nail	2146	EZH2	OMIM:277590
HP:0001816	Thin nail	2146	EZH2	ORPHA:3447
HP:0001816	Thin nail	64682	ANAPC1	OMIM:618625
HP:0001816	Thin nail	3265	HRAS	OMIM:218040
HP:0001816	Thin nail	55764	IFT122	OMIM:218330
HP:0001816	Thin nail	64324	NSD1	ORPHA:3447
HP:0001816	Thin nail	23512	SUZ12	ORPHA:3447
HP:0001816	Thin nail	51360	MBTPS2	ORPHA:2273
HP:0001816	Thin nail	4487	MSX1	ORPHA:2228
HP:0001817	Absent fingernail	9896	FIG4	OMIM:216340
HP:0001817	Absent fingernail	64840	PORCN	OMIM:305600
HP:0001817	Absent fingernail	1832	DSP	OMIM:609638
HP:0001817	Absent fingernail	1832	DSP	ORPHA:158687
HP:0001817	Absent fingernail	1294	COL7A1	ORPHA:231568
HP:0001817	Absent fingernail	3728	JUP	ORPHA:158687
HP:0001817	Absent fingernail	613	BCR	ORPHA:261330
HP:0001817	Absent fingernail	1399	CRKL	ORPHA:261330
HP:0001817	Absent fingernail	5594	MAPK1	ORPHA:261330
HP:0001817	Absent fingernail	9241	NOG	ORPHA:140908
HP:0001817	Absent fingernail	526	ATP6V1B2	ORPHA:3473
HP:0001817	Absent fingernail	526	ATP6V1B2	ORPHA:79499
HP:0001817	Absent fingernail	526	ATP6V1B2	ORPHA:79500
HP:0001817	Absent fingernail	3756	KCNH1	ORPHA:3473
HP:0001817	Absent fingernail	3782	KCNN3	ORPHA:3473
HP:0001817	Absent fingernail	3516	RBPJ	ORPHA:974
HP:0001817	Absent fingernail	4851	NOTCH1	ORPHA:974
HP:0001817	Absent fingernail	57514	ARHGAP31	ORPHA:974
HP:0001817	Absent fingernail	57572	DOCK6	ORPHA:974
HP:0001817	Absent fingernail	285203	EOGT	ORPHA:974
HP:0001817	Absent fingernail	54567	DLL4	ORPHA:974
HP:0001817	Absent fingernail	4038	LRP4	ORPHA:3258
HP:0001817	Absent fingernail	324	APC	ORPHA:3258
HP:0001817	Absent fingernail	57465	TBC1D24	ORPHA:79500
HP:0001817	Absent fingernail	6792	CDKL5	ORPHA:1934
HP:0001817	Absent fingernail	3736	KCNA1	ORPHA:1934
HP:0001817	Absent fingernail	9091	PIGQ	ORPHA:1934
HP:0001817	Absent fingernail	2775	GNAO1	ORPHA:1934
HP:0001817	Absent fingernail	81603	TRIM8	ORPHA:1934
HP:0001817	Absent fingernail	2902	GRIN1	ORPHA:1934
HP:0001817	Absent fingernail	79751	SLC25A22	ORPHA:1934
HP:0001817	Absent fingernail	150094	SIK1	ORPHA:1934
HP:0001817	Absent fingernail	8573	CASK	ORPHA:1934
HP:0001817	Absent fingernail	23312	DMXL2	ORPHA:1934
HP:0001817	Absent fingernail	2917	GRM7	ORPHA:1934
HP:0001817	Absent fingernail	170302	ARX	ORPHA:1934
HP:0001817	Absent fingernail	11284	PNKP	ORPHA:1934
HP:0001817	Absent fingernail	6326	SCN2A	ORPHA:1934
HP:0001817	Absent fingernail	51227	PIGP	ORPHA:1934
HP:0001817	Absent fingernail	6324	SCN1B	ORPHA:1934
HP:0001817	Absent fingernail	4761	NEUROD2	ORPHA:1934
HP:0001817	Absent fingernail	8289	ARID1A	OMIM:614607
HP:0001818	Paronychia	6774	STAT3	ORPHA:2314
HP:0001818	Paronychia	3909	LAMA3	ORPHA:79404
HP:0001818	Paronychia	3918	LAMC2	ORPHA:79404
HP:0001818	Paronychia	3914	LAMB3	ORPHA:79404
HP:0001818	Paronychia	641	BLM	ORPHA:125
HP:0001818	Paronychia	55630	SLC39A4	ORPHA:37
HP:0001818	Paronychia	55630	SLC39A4	OMIM:201100
HP:0001818	Paronychia	6868	ADAM17	OMIM:614328
HP:0001818	Paronychia	54463	RETREG1	OMIM:201300
HP:0001818	Paronychia	65125	WNK1	OMIM:201300
HP:0001818	Paronychia	6335	SCN9A	OMIM:201300
HP:0001818	Paronychia	547	KIF1A	OMIM:201300
HP:0001818	Paronychia	3868	KRT16	ORPHA:2309
HP:0001818	Paronychia	3872	KRT17	ORPHA:2309
HP:0001818	Paronychia	3853	KRT6A	ORPHA:2309
HP:0001818	Paronychia	3854	KRT6B	ORPHA:2309
HP:0001818	Paronychia	1053	CEBPE	OMIM:260570
HP:0001820	Leukonychia	26154	ABCA12	OMIM:601277
HP:0001820	Leukonychia	831	CAST	OMIM:616295
HP:0001820	Leukonychia	25959	KANK2	OMIM:616099
HP:0001820	Leukonychia	2697	GJA1	OMIM:617525
HP:0001820	Leukonychia	2697	GJA1	OMIM:104100
HP:0001820	Leukonychia	5333	PLCD1	OMIM:151600
HP:0001820	Leukonychia	3832	KIF11	ORPHA:2526
HP:0001820	Leukonychia	1825	DSC3	OMIM:613102
HP:0001820	Leukonychia	7227	TRPS1	OMIM:190350
HP:0001820	Leukonychia	7227	TRPS1	ORPHA:77258
HP:0001820	Leukonychia	2706	GJB2	OMIM:149200
HP:0001820	Leukonychia	2706	GJB2	ORPHA:2698
HP:0001820	Leukonychia	488	ATP2A2	ORPHA:79151
HP:0001820	Leukonychia	1832	DSP	OMIM:615821
HP:0001820	Leukonychia	5189	PEX1	OMIM:234580
HP:0001820	Leukonychia	5190	PEX6	OMIM:616617
HP:0001822	Hallux valgus	7291	TWIST1	ORPHA:794
HP:0001822	Hallux valgus	7291	TWIST1	OMIM:101400
HP:0001822	Hallux valgus	7291	TWIST1	OMIM:180750
HP:0001822	Hallux valgus	2263	FGFR2	ORPHA:794
HP:0001822	Hallux valgus	2263	FGFR2	OMIM:101400
HP:0001822	Hallux valgus	2261	FGFR3	ORPHA:794
HP:0001822	Hallux valgus	658	BMPR1B	OMIM:112600
HP:0001822	Hallux valgus	8200	GDF5	OMIM:112600
HP:0001822	Hallux valgus	650	BMP2	OMIM:112600
HP:0001822	Hallux valgus	7528	YY1	ORPHA:506358
HP:0001822	Hallux valgus	7528	YY1	OMIM:617557
HP:0001822	Hallux valgus	10262	SF3B4	OMIM:154400
HP:0001822	Hallux valgus	8294	H4C9	OMIM:619951
HP:0001822	Hallux valgus	3590	IL11RA	OMIM:614188
HP:0001822	Hallux valgus	1859	DYRK1A	ORPHA:268261
HP:0001822	Hallux valgus	1859	DYRK1A	OMIM:614104
HP:0001822	Hallux valgus	25923	ATL3	OMIM:615632
HP:0001822	Hallux valgus	6938	TCF12	OMIM:615314
HP:0001822	Hallux valgus	8239	USP9X	ORPHA:480880
HP:0001822	Hallux valgus	6804	STX1A	ORPHA:904
HP:0001822	Hallux valgus	7461	CLIP2	ORPHA:904
HP:0001822	Hallux valgus	84277	DNAJC30	ORPHA:904
HP:0001822	Hallux valgus	8468	FKBP6	ORPHA:904
HP:0001822	Hallux valgus	5982	RFC2	ORPHA:904
HP:0001822	Hallux valgus	2969	GTF2I	ORPHA:904
HP:0001822	Hallux valgus	3984	LIMK1	ORPHA:904
HP:0001822	Hallux valgus	9569	GTF2IRD1	ORPHA:904
HP:0001822	Hallux valgus	155382	VPS37D	ORPHA:904
HP:0001822	Hallux valgus	155368	METTL27	ORPHA:904
HP:0001822	Hallux valgus	114049	BUD23	ORPHA:904
HP:0001822	Hallux valgus	7458	EIF4H	ORPHA:904
HP:0001822	Hallux valgus	84163	GTF2IRD2	ORPHA:904
HP:0001822	Hallux valgus	9275	BCL7B	ORPHA:904
HP:0001822	Hallux valgus	26608	TBL2	ORPHA:904
HP:0001822	Hallux valgus	653361	NCF1	ORPHA:904
HP:0001822	Hallux valgus	135886	TMEM270	ORPHA:904
HP:0001822	Hallux valgus	51085	MLXIPL	ORPHA:904
HP:0001822	Hallux valgus	51085	MLXIPL	OMIM:194050
HP:0001822	Hallux valgus	9031	BAZ1B	ORPHA:904
HP:0001822	Hallux valgus	2006	ELN	ORPHA:904
HP:0001822	Hallux valgus	2006	ELN	OMIM:194050
HP:0001822	Hallux valgus	57122	NUP107	OMIM:618348
HP:0001822	Hallux valgus	10283	CWC27	ORPHA:166035
HP:0001822	Hallux valgus	5728	PTEN	ORPHA:744
HP:0001822	Hallux valgus	207	AKT1	ORPHA:744
HP:0001822	Hallux valgus	55027	HEATR3	OMIM:620072
HP:0001822	Hallux valgus	9839	ZEB2	ORPHA:261537
HP:0001822	Hallux valgus	9839	ZEB2	ORPHA:261552
HP:0001822	Hallux valgus	79759	ZNF668	OMIM:620194
HP:0001822	Hallux valgus	55315	SLC29A3	OMIM:602782
HP:0001822	Hallux valgus	55315	SLC29A3	ORPHA:168569
HP:0001822	Hallux valgus	2077	ERF	OMIM:617180
HP:0001822	Hallux valgus	6567	SLC16A2	OMIM:300523
HP:0001822	Hallux valgus	91179	SCARF2	OMIM:600920
HP:0001822	Hallux valgus	4841	NONO	OMIM:300967
HP:0001822	Hallux valgus	4841	NONO	ORPHA:466791
HP:0001822	Hallux valgus	1278	COL1A2	ORPHA:230851
HP:0001822	Hallux valgus	1278	COL1A2	OMIM:617821
HP:0001822	Hallux valgus	56098	PCDHGC4	OMIM:619880
HP:0001822	Hallux valgus	83737	ITCH	OMIM:613385
HP:0001822	Hallux valgus	4621	MYH3	OMIM:618436
HP:0001822	Hallux valgus	6662	SOX9	OMIM:114290
HP:0001822	Hallux valgus	55780	ERMARD	ORPHA:75857
HP:0001822	Hallux valgus	2273	FHL1	OMIM:300280
HP:0001822	Hallux valgus	11107	PRDM5	ORPHA:90354
HP:0001822	Hallux valgus	84627	ZNF469	ORPHA:90354
HP:0001822	Hallux valgus	5932	RBBP8	OMIM:251255
HP:0001822	Hallux valgus	90	ACVR1	ORPHA:337
HP:0001822	Hallux valgus	90	ACVR1	OMIM:135100
HP:0001822	Hallux valgus	126792	B3GALT6	OMIM:271640
HP:0001822	Hallux valgus	126792	B3GALT6	ORPHA:536467
HP:0001822	Hallux valgus	8626	TP63	OMIM:603543
HP:0001822	Hallux valgus	4784	NFIX	OMIM:602535
HP:0001822	Hallux valgus	2629	GBA1	ORPHA:2072
HP:0001822	Hallux valgus	165	AEBP1	OMIM:618000
HP:0001822	Hallux valgus	165	AEBP1	ORPHA:536532
HP:0001822	Hallux valgus	7874	USP7	OMIM:616863
HP:0001822	Hallux valgus	9469	CHST3	OMIM:245600
HP:0001822	Hallux valgus	26229	B3GAT3	OMIM:245600
HP:0001822	Hallux valgus	6595	SMARCA2	OMIM:601358
HP:0001822	Hallux valgus	6792	CDKL5	ORPHA:505652
HP:0001822	Hallux valgus	1277	COL1A1	OMIM:130060
HP:0001822	Hallux valgus	23102	TBC1D2B	ORPHA:397973
HP:0001822	Hallux valgus	80185	TTI2	OMIM:615541
HP:0001822	Hallux valgus	57178	ZMIZ1	OMIM:618659
HP:0001822	Hallux valgus	6736	SRY	ORPHA:1772
HP:0001822	Hallux valgus	3239	HOXD13	ORPHA:93409
HP:0001822	Hallux valgus	526	ATP6V1B2	ORPHA:3473
HP:0001822	Hallux valgus	3756	KCNH1	ORPHA:3473
HP:0001822	Hallux valgus	3782	KCNN3	ORPHA:3473
HP:0001822	Hallux valgus	5696	PSMB8	OMIM:256040
HP:0004325	Decreased body weight	1718	DHCR24	OMIM:602398
HP:0004325	Decreased body weight	1718	DHCR24	ORPHA:35107
HP:0004325	Decreased body weight	3651	PDX1	OMIM:260370
HP:0004325	Decreased body weight	3651	PDX1	ORPHA:99885
HP:0004325	Decreased body weight	4524	MTHFR	ORPHA:395
HP:0004325	Decreased body weight	6555	SLC10A2	OMIM:613291
HP:0004325	Decreased body weight	7428	VHL	OMIM:263400
HP:0004325	Decreased body weight	26235	FBXL4	OMIM:615471
HP:0004325	Decreased body weight	340533	NEXMIF	OMIM:300912
HP:0004325	Decreased body weight	5913	RAPSN	OMIM:616326
HP:0004325	Decreased body weight	79827	CLMP	OMIM:615237
HP:0004325	Decreased body weight	10059	DNM1L	OMIM:614388
HP:0004325	Decreased body weight	5238	PGM3	ORPHA:443811
HP:0004325	Decreased body weight	5238	PGM3	OMIM:615816
HP:0004325	Decreased body weight	4897	NRCAM	OMIM:619833
HP:0004325	Decreased body weight	84334	COA8	ORPHA:436271
HP:0004325	Decreased body weight	1131	CHRM3	ORPHA:2970
HP:0004325	Decreased body weight	51	ACOX1	ORPHA:2971
HP:0004325	Decreased body weight	3909	LAMA3	ORPHA:79404
HP:0004325	Decreased body weight	3909	LAMA3	OMIM:226700
HP:0004325	Decreased body weight	3918	LAMC2	ORPHA:79404
HP:0004325	Decreased body weight	3918	LAMC2	OMIM:226700
HP:0004325	Decreased body weight	3914	LAMB3	ORPHA:79404
HP:0004325	Decreased body weight	3914	LAMB3	OMIM:226700
HP:0004325	Decreased body weight	4552	MTRR	OMIM:236270
HP:0004325	Decreased body weight	4552	MTRR	ORPHA:2169
HP:0004325	Decreased body weight	197131	UBR1	OMIM:243800
HP:0004325	Decreased body weight	197131	UBR1	ORPHA:2315
HP:0004325	Decreased body weight	80816	ASXL3	OMIM:615485
HP:0004325	Decreased body weight	4141	MARS1	OMIM:615486
HP:0004325	Decreased body weight	5651	TMPRSS15	OMIM:226200
HP:0004325	Decreased body weight	27245	AHDC1	ORPHA:412069
HP:0004325	Decreased body weight	27245	AHDC1	OMIM:615829
HP:0004325	Decreased body weight	166378	AFG2A	OMIM:616577
HP:0004325	Decreased body weight	5184	PEPD	OMIM:170100
HP:0004325	Decreased body weight	84466	MEGF10	OMIM:614399
HP:0004325	Decreased body weight	10686	CLDN16	OMIM:248250
HP:0004325	Decreased body weight	16	AARS1	OMIM:616339
HP:0004325	Decreased body weight	16	AARS1	ORPHA:442835
HP:0004325	Decreased body weight	3716	JAK1	OMIM:618999
HP:0004325	Decreased body weight	3508	IGHMBP2	OMIM:604320
HP:0004325	Decreased body weight	1161	ERCC8	OMIM:216400
HP:0004325	Decreased body weight	1161	ERCC8	ORPHA:90321
HP:0004325	Decreased body weight	79158	GNPTAB	OMIM:252500
HP:0004325	Decreased body weight	7252	TSHB	ORPHA:90674
HP:0004325	Decreased body weight	29957	SLC25A24	ORPHA:2963
HP:0004325	Decreased body weight	29957	SLC25A24	OMIM:612289
HP:0004325	Decreased body weight	2188	FANCF	OMIM:603467
HP:0004325	Decreased body weight	284403	WDR62	OMIM:604317
HP:0004325	Decreased body weight	8029	CUBN	ORPHA:35858
HP:0004325	Decreased body weight	81693	AMN	ORPHA:35858
HP:0004325	Decreased body weight	2212	FCGR2A	OMIM:219700
HP:0004325	Decreased body weight	6023	RMRP	ORPHA:175
HP:0004325	Decreased body weight	6023	RMRP	ORPHA:39041
HP:0004325	Decreased body weight	3190	HNRNPK	OMIM:616580
HP:0004325	Decreased body weight	4089	SMAD4	OMIM:174900
HP:0004325	Decreased body weight	657	BMPR1A	OMIM:174900
HP:0004325	Decreased body weight	1777	DNASE2	OMIM:619858
HP:0004325	Decreased body weight	1716	DGUOK	OMIM:251880
HP:0004325	Decreased body weight	857	CAV1	OMIM:606721
HP:0004325	Decreased body weight	857	CAV1	ORPHA:528
HP:0004325	Decreased body weight	1594	CYP27B1	OMIM:264700
HP:0004325	Decreased body weight	1594	CYP27B1	ORPHA:289157
HP:0004325	Decreased body weight	23327	NEDD4L	OMIM:617201
HP:0004325	Decreased body weight	5073	PARN	OMIM:616353
HP:0004325	Decreased body weight	5073	PARN	ORPHA:3322
HP:0004325	Decreased body weight	8550	MAPKAPK5	OMIM:619869
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93926
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93924
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93925
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:220386
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93926
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93924
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93925
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:220386
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93926
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93924
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93925
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:220386
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93926
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93924
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93925
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:220386
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93926
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93924
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93925
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:220386
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93926
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93924
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93925
HP:0004325	Decreased body weight	6469	SHH	ORPHA:220386
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93926
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93924
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93925
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:220386
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93926
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93924
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93925
HP:0004325	Decreased body weight	6491	STIL	ORPHA:220386
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93926
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93924
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93925
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:220386
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93926
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93924
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93925
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:220386
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93926
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93924
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93925
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:220386
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93926
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93924
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93925
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:220386
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93926
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93924
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93925
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:220386
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93926
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93924
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93925
HP:0004325	Decreased body weight	50937	CDON	ORPHA:95496
HP:0004325	Decreased body weight	50937	CDON	ORPHA:220386
HP:0004325	Decreased body weight	10125	RASGRP1	OMIM:618534
HP:0004325	Decreased body weight	23007	PLCH1	ORPHA:93925
HP:0004325	Decreased body weight	10735	STAG2	ORPHA:93925
HP:0004325	Decreased body weight	10735	STAG2	OMIM:301022
HP:0004325	Decreased body weight	10735	STAG2	ORPHA:220386
HP:0004325	Decreased body weight	89910	UBE3B	ORPHA:2707
HP:0004325	Decreased body weight	89910	UBE3B	OMIM:244450
HP:0004325	Decreased body weight	4645	MYO5B	OMIM:619868
HP:0004325	Decreased body weight	10716	TBR1	ORPHA:1617
HP:0004325	Decreased body weight	4247	MGAT2	OMIM:212066
HP:0004325	Decreased body weight	4247	MGAT2	ORPHA:79329
HP:0004325	Decreased body weight	5373	PMM2	OMIM:212065
HP:0004325	Decreased body weight	5373	PMM2	ORPHA:79318
HP:0004325	Decreased body weight	63901	FAM111A	OMIM:602361
HP:0004325	Decreased body weight	26154	ABCA12	OMIM:242500
HP:0004325	Decreased body weight	26154	ABCA12	ORPHA:79394
HP:0004325	Decreased body weight	11285	B4GALT7	OMIM:130070
HP:0004325	Decreased body weight	1187	CLCNKA	OMIM:613090
HP:0004325	Decreased body weight	1187	CLCNKA	ORPHA:89938
HP:0004325	Decreased body weight	1188	CLCNKB	OMIM:613090
HP:0004325	Decreased body weight	1188	CLCNKB	ORPHA:358
HP:0004325	Decreased body weight	1188	CLCNKB	ORPHA:89938
HP:0004325	Decreased body weight	23126	POGZ	OMIM:616364
HP:0004325	Decreased body weight	120227	CYP2R1	ORPHA:289157
HP:0004325	Decreased body weight	120227	CYP2R1	OMIM:600081
HP:0004325	Decreased body weight	4261	CIITA	OMIM:209920
HP:0004325	Decreased body weight	4261	CIITA	ORPHA:572
HP:0004325	Decreased body weight	5994	RFXAP	OMIM:209920
HP:0004325	Decreased body weight	5994	RFXAP	ORPHA:572
HP:0004325	Decreased body weight	5993	RFX5	OMIM:209920
HP:0004325	Decreased body weight	5993	RFX5	ORPHA:572
HP:0004325	Decreased body weight	8625	RFXANK	OMIM:209920
HP:0004325	Decreased body weight	8625	RFXANK	ORPHA:572
HP:0004325	Decreased body weight	92609	TIMM50	OMIM:617698
HP:0004325	Decreased body weight	92609	TIMM50	ORPHA:505216
HP:0004325	Decreased body weight	51692	CPSF3	OMIM:619876
HP:0004325	Decreased body weight	5590	PRKCZ	ORPHA:1606
HP:0004325	Decreased body weight	2563	GABRD	ORPHA:1606
HP:0004325	Decreased body weight	23013	SPEN	ORPHA:1606
HP:0004325	Decreased body weight	8510	MMP23B	ORPHA:1606
HP:0004325	Decreased body weight	7798	LUZP1	ORPHA:1606
HP:0004325	Decreased body weight	6497	SKI	ORPHA:1606
HP:0004325	Decreased body weight	6497	SKI	ORPHA:2462
HP:0004325	Decreased body weight	10630	PDPN	ORPHA:1606
HP:0004325	Decreased body weight	10277	UBE4B	ORPHA:1606
HP:0004325	Decreased body weight	8514	KCNAB2	ORPHA:1606
HP:0004325	Decreased body weight	473	RERE	ORPHA:1606
HP:0004325	Decreased body weight	63976	PRDM16	ORPHA:1606
HP:0004325	Decreased body weight	54897	CASZ1	ORPHA:1606
HP:0004325	Decreased body weight	2517	FUCA1	ORPHA:349
HP:0004325	Decreased body weight	472	ATM	ORPHA:100
HP:0004325	Decreased body weight	472	ATM	OMIM:208900
HP:0004325	Decreased body weight	3507	IGHM	OMIM:601495
HP:0004325	Decreased body weight	3507	IGHM	ORPHA:33110
HP:0004325	Decreased body weight	57169	ZNFX1	OMIM:619644
HP:0004325	Decreased body weight	2232	FDXR	ORPHA:543470
HP:0004325	Decreased body weight	11311	VPS45	OMIM:615285
HP:0004325	Decreased body weight	113179	ADAT3	OMIM:615286
HP:0004325	Decreased body weight	113179	ADAT3	ORPHA:363528
HP:0004325	Decreased body weight	50485	SMARCAL1	ORPHA:1830
HP:0004325	Decreased body weight	4285	MIPEP	OMIM:617228
HP:0004325	Decreased body weight	6901	TAFAZZIN	OMIM:302060
HP:0004325	Decreased body weight	90	ACVR1	ORPHA:337
HP:0004325	Decreased body weight	4351	MPI	OMIM:602579
HP:0004325	Decreased body weight	4351	MPI	ORPHA:79319
HP:0004325	Decreased body weight	5354	PLP1	OMIM:312080
HP:0004325	Decreased body weight	5354	PLP1	ORPHA:280210
HP:0004325	Decreased body weight	6603	SMARCD2	OMIM:617475
HP:0004325	Decreased body weight	111	ADCY5	OMIM:619651
HP:0004325	Decreased body weight	125988	MICOS13	OMIM:618329
HP:0004325	Decreased body weight	1585	CYP11B2	OMIM:610600
HP:0004325	Decreased body weight	1585	CYP11B2	OMIM:203400
HP:0004325	Decreased body weight	1585	CYP11B2	ORPHA:556030
HP:0004325	Decreased body weight	2184	FAH	OMIM:276700
HP:0004325	Decreased body weight	56246	MRAP	ORPHA:361
HP:0004325	Decreased body weight	6770	STAR	ORPHA:361
HP:0004325	Decreased body weight	4158	MC2R	ORPHA:361
HP:0004325	Decreased body weight	4158	MC2R	OMIM:202200
HP:0004325	Decreased body weight	23530	NNT	ORPHA:361
HP:0004325	Decreased body weight	23530	NNT	OMIM:614736
HP:0004325	Decreased body weight	10587	TXNRD2	ORPHA:361
HP:0004325	Decreased body weight	91252	SLC39A13	ORPHA:157965
HP:0004325	Decreased body weight	404672	GTF2H5	OMIM:616395
HP:0004325	Decreased body weight	25970	SH2B1	ORPHA:261197
HP:0004325	Decreased body weight	9742	IFT140	OMIM:266920
HP:0004325	Decreased body weight	205327	C2orf69	OMIM:619423
HP:0004325	Decreased body weight	27429	HTRA2	OMIM:617248
HP:0004325	Decreased body weight	6559	SLC12A3	ORPHA:358
HP:0004325	Decreased body weight	6559	SLC12A3	OMIM:263800
HP:0004325	Decreased body weight	389827	MYMK	OMIM:254940
HP:0004325	Decreased body weight	291	SLC25A4	ORPHA:254892
HP:0004325	Decreased body weight	5428	POLG	ORPHA:254892
HP:0004325	Decreased body weight	5428	POLG	OMIM:203700
HP:0004325	Decreased body weight	56652	TWNK	ORPHA:254892
HP:0004325	Decreased body weight	11232	POLG2	ORPHA:254892
HP:0004325	Decreased body weight	11232	POLG2	OMIM:610131
HP:0004325	Decreased body weight	50484	RRM2B	ORPHA:254892
HP:0004325	Decreased body weight	50484	RRM2B	OMIM:612075
HP:0004325	Decreased body weight	2074	ERCC6	OMIM:133540
HP:0004325	Decreased body weight	2074	ERCC6	ORPHA:90321
HP:0004325	Decreased body weight	2074	ERCC6	OMIM:214150
HP:0004325	Decreased body weight	4625	MYH7	ORPHA:324604
HP:0004325	Decreased body weight	7273	TTN	ORPHA:324604
HP:0004325	Decreased body weight	9488	PIGB	OMIM:618580
HP:0004325	Decreased body weight	4558	MT-TF	ORPHA:550
HP:0004325	Decreased body weight	4572	MT-TQ	ORPHA:550
HP:0004325	Decreased body weight	4512	MT-CO1	ORPHA:550
HP:0004325	Decreased body weight	4513	MT-CO2	ORPHA:550
HP:0004325	Decreased body weight	4514	MT-CO3	ORPHA:550
HP:0004325	Decreased body weight	4578	MT-TW	ORPHA:550
HP:0004325	Decreased body weight	4578	MT-TW	ORPHA:255210
HP:0004325	Decreased body weight	4540	MT-ND5	ORPHA:550
HP:0004325	Decreased body weight	4540	MT-ND5	ORPHA:255210
HP:0004325	Decreased body weight	4541	MT-ND6	ORPHA:550
HP:0004325	Decreased body weight	4541	MT-ND6	ORPHA:255210
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:550
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:2609
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:255210
HP:0004325	Decreased body weight	4538	MT-ND4	ORPHA:550
HP:0004325	Decreased body weight	4538	MT-ND4	ORPHA:255210
HP:0004325	Decreased body weight	4567	MT-TL1	ORPHA:550
HP:0004325	Decreased body weight	4567	MT-TL1	ORPHA:255210
HP:0004325	Decreased body weight	4574	MT-TS1	ORPHA:550
HP:0004325	Decreased body weight	4574	MT-TS1	OMIM:220110
HP:0004325	Decreased body weight	4575	MT-TS2	ORPHA:550
HP:0004325	Decreased body weight	4564	MT-TH	ORPHA:550
HP:0004325	Decreased body weight	1291	COL6A1	OMIM:254090
HP:0004325	Decreased body weight	1292	COL6A2	OMIM:254090
HP:0004325	Decreased body weight	1293	COL6A3	OMIM:254090
HP:0004325	Decreased body weight	10564	ARFGEF2	OMIM:608097
HP:0004325	Decreased body weight	92335	STRADA	ORPHA:500533
HP:0004325	Decreased body weight	51259	TMEM216	OMIM:608091
HP:0004325	Decreased body weight	51259	TMEM216	ORPHA:2754
HP:0004325	Decreased body weight	9526	MPDU1	OMIM:609180
HP:0004325	Decreased body weight	8737	RIPK1	OMIM:618108
HP:0004325	Decreased body weight	79813	EHMT1	ORPHA:96147
HP:0004325	Decreased body weight	79813	EHMT1	ORPHA:261652
HP:0004325	Decreased body weight	959	CD40LG	OMIM:308230
HP:0004325	Decreased body weight	55630	SLC39A4	ORPHA:37
HP:0004325	Decreased body weight	55630	SLC39A4	OMIM:201100
HP:0004325	Decreased body weight	8540	AGPS	OMIM:600121
HP:0004325	Decreased body weight	5896	RAG1	OMIM:601457
HP:0004325	Decreased body weight	5896	RAG1	ORPHA:331206
HP:0004325	Decreased body weight	5896	RAG1	OMIM:603554
HP:0004325	Decreased body weight	5896	RAG1	ORPHA:39041
HP:0004325	Decreased body weight	5897	RAG2	OMIM:601457
HP:0004325	Decreased body weight	5897	RAG2	ORPHA:331206
HP:0004325	Decreased body weight	5897	RAG2	OMIM:603554
HP:0004325	Decreased body weight	5897	RAG2	ORPHA:39041
HP:0004325	Decreased body weight	2972	BRF1	ORPHA:444072
HP:0004325	Decreased body weight	29887	SNX10	OMIM:615085
HP:0004325	Decreased body weight	23114	NFASC	OMIM:618356
HP:0004325	Decreased body weight	6492	SIM1	ORPHA:398079
HP:0004325	Decreased body weight	112939	NACC1	ORPHA:500545
HP:0004325	Decreased body weight	112939	NACC1	OMIM:617393
HP:0004325	Decreased body weight	4952	OCRL	ORPHA:534
HP:0004325	Decreased body weight	4952	OCRL	OMIM:309000
HP:0004325	Decreased body weight	3767	KCNJ11	ORPHA:99885
HP:0004325	Decreased body weight	3767	KCNJ11	ORPHA:99886
HP:0004325	Decreased body weight	6774	STAT3	ORPHA:99885
HP:0004325	Decreased body weight	2645	GCK	ORPHA:99885
HP:0004325	Decreased body weight	6833	ABCC8	ORPHA:99885
HP:0004325	Decreased body weight	6833	ABCC8	ORPHA:99886
HP:0004325	Decreased body weight	3630	INS	ORPHA:99885
HP:0004325	Decreased body weight	346171	ZFP57	ORPHA:99886
HP:0004325	Decreased body weight	57061	HYMAI	ORPHA:99886
HP:0004325	Decreased body weight	5325	PLAGL1	ORPHA:99886
HP:0004325	Decreased body weight	3417	IDH1	ORPHA:99646
HP:0004325	Decreased body weight	427	ASAH1	ORPHA:333
HP:0004325	Decreased body weight	427	ASAH1	OMIM:228000
HP:0004325	Decreased body weight	3039	HBA1	ORPHA:98791
HP:0004325	Decreased body weight	3040	HBA2	ORPHA:98791
HP:0004325	Decreased body weight	3861	KRT14	ORPHA:89838
HP:0004325	Decreased body weight	3861	KRT14	ORPHA:79396
HP:0004325	Decreased body weight	6777	STAT5B	OMIM:245590
HP:0004325	Decreased body weight	537	ATP6AP1	OMIM:300972
HP:0004325	Decreased body weight	4998	ORC1	OMIM:224690
HP:0004325	Decreased body weight	4998	ORC1	ORPHA:2554
HP:0004325	Decreased body weight	7922	SLC39A7	OMIM:619693
HP:0004325	Decreased body weight	6601	SMARCC2	OMIM:618362
HP:0004325	Decreased body weight	7468	NSD2	OMIM:619695
HP:0004325	Decreased body weight	7468	NSD2	OMIM:194190
HP:0004325	Decreased body weight	7468	NSD2	ORPHA:280
HP:0004325	Decreased body weight	6718	AKR1D1	OMIM:235555
HP:0004325	Decreased body weight	6718	AKR1D1	ORPHA:79303
HP:0004325	Decreased body weight	3054	HCFC1	OMIM:309541
HP:0004325	Decreased body weight	201163	FLCN	OMIM:610883
HP:0004325	Decreased body weight	2019	EN1	OMIM:619218
HP:0004325	Decreased body weight	549	AUH	OMIM:250950
HP:0004325	Decreased body weight	549	AUH	ORPHA:67046
HP:0004325	Decreased body weight	1312	COMT	ORPHA:567
HP:0004325	Decreased body weight	221037	JMJD1C	ORPHA:567
HP:0004325	Decreased body weight	2812	GP1BB	ORPHA:567
HP:0004325	Decreased body weight	6239	RREB1	ORPHA:567
HP:0004325	Decreased body weight	6899	TBX1	ORPHA:567
HP:0004325	Decreased body weight	7290	HIRA	ORPHA:567
HP:0004325	Decreased body weight	9632	SEC24C	ORPHA:567
HP:0004325	Decreased body weight	7353	UFD1	ORPHA:567
HP:0004325	Decreased body weight	421	ARVCF	ORPHA:567
HP:0004325	Decreased body weight	3291	HSD11B2	ORPHA:320
HP:0004325	Decreased body weight	3291	HSD11B2	OMIM:218030
HP:0004325	Decreased body weight	4547	MTTP	ORPHA:14
HP:0004325	Decreased body weight	6045	RNF2	OMIM:619460
HP:0004325	Decreased body weight	51102	MECR	OMIM:617282
HP:0004325	Decreased body weight	51102	MECR	ORPHA:508093
HP:0004325	Decreased body weight	6557	SLC12A1	OMIM:601678
HP:0004325	Decreased body weight	7809	BSND	OMIM:602522
HP:0004325	Decreased body weight	7809	BSND	ORPHA:89938
HP:0004325	Decreased body weight	63931	MRPS14	OMIM:618378
HP:0004325	Decreased body weight	11342	RNF13	OMIM:618379
HP:0004325	Decreased body weight	11342	RNF13	ORPHA:544503
HP:0004325	Decreased body weight	127833	SYT2	OMIM:619461
HP:0004325	Decreased body weight	8802	SUCLG1	ORPHA:17
HP:0004325	Decreased body weight	8802	SUCLG1	OMIM:245400
HP:0004325	Decreased body weight	146206	CARMIL2	OMIM:618131
HP:0004325	Decreased body weight	3188	HNRNPH2	OMIM:300986
HP:0004325	Decreased body weight	84705	GTPBP3	OMIM:616198
HP:0004325	Decreased body weight	84705	GTPBP3	ORPHA:444013
HP:0004325	Decreased body weight	9971	NR1H4	OMIM:617049
HP:0004325	Decreased body weight	4548	MTR	OMIM:250940
HP:0004325	Decreased body weight	65250	CPLANE1	OMIM:277170
HP:0004325	Decreased body weight	65250	CPLANE1	ORPHA:2754
HP:0004325	Decreased body weight	134218	DNAJC21	OMIM:617052
HP:0004325	Decreased body weight	134218	DNAJC21	ORPHA:811
HP:0004325	Decreased body weight	134218	DNAJC21	OMIM:260400
HP:0004325	Decreased body weight	10526	IPO8	OMIM:619472
HP:0004325	Decreased body weight	54539	NDUFB11	OMIM:300952
HP:0004325	Decreased body weight	54539	NDUFB11	ORPHA:2556
HP:0004325	Decreased body weight	54539	NDUFB11	ORPHA:2609
HP:0004325	Decreased body weight	435	ASL	OMIM:207900
HP:0004325	Decreased body weight	8452	CUL3	OMIM:619239
HP:0004325	Decreased body weight	162417	NAGS	OMIM:237310
HP:0004325	Decreased body weight	162417	NAGS	ORPHA:927
HP:0004325	Decreased body weight	2887	GRB10	ORPHA:96182
HP:0004325	Decreased body weight	10682	EBP	OMIM:300960
HP:0004325	Decreased body weight	10682	EBP	ORPHA:401973
HP:0004325	Decreased body weight	10682	EBP	OMIM:302960
HP:0004325	Decreased body weight	1457	CSNK2A1	OMIM:617062
HP:0004325	Decreased body weight	100147744	RNU7-1	OMIM:619487
HP:0004325	Decreased body weight	374879	ZNF699	OMIM:619488
HP:0004325	Decreased body weight	200931	SLC51A	OMIM:619484
HP:0004325	Decreased body weight	9373	PLAA	ORPHA:521426
HP:0004325	Decreased body weight	9373	PLAA	OMIM:617527
HP:0004325	Decreased body weight	2998	GYS2	ORPHA:2089
HP:0004325	Decreased body weight	57038	RARS2	OMIM:611523
HP:0004325	Decreased body weight	6514	SLC2A2	ORPHA:2088
HP:0004325	Decreased body weight	6514	SLC2A2	OMIM:227810
HP:0004325	Decreased body weight	10551	AGR2	OMIM:620233
HP:0004325	Decreased body weight	3516	RBPJ	ORPHA:974
HP:0004325	Decreased body weight	4851	NOTCH1	ORPHA:974
HP:0004325	Decreased body weight	57514	ARHGAP31	ORPHA:974
HP:0004325	Decreased body weight	57572	DOCK6	ORPHA:974
HP:0004325	Decreased body weight	285203	EOGT	ORPHA:974
HP:0004325	Decreased body weight	54567	DLL4	ORPHA:974
HP:0004325	Decreased body weight	60386	SLC25A19	OMIM:607196
HP:0004325	Decreased body weight	55670	PEX26	ORPHA:772
HP:0004325	Decreased body weight	55670	PEX26	ORPHA:912
HP:0004325	Decreased body weight	5828	PEX2	ORPHA:772
HP:0004325	Decreased body weight	5828	PEX2	OMIM:614866
HP:0004325	Decreased body weight	5828	PEX2	ORPHA:912
HP:0004325	Decreased body weight	8504	PEX3	ORPHA:772
HP:0004325	Decreased body weight	8504	PEX3	ORPHA:912
HP:0004325	Decreased body weight	9409	PEX16	ORPHA:772
HP:0004325	Decreased body weight	9409	PEX16	OMIM:614877
HP:0004325	Decreased body weight	9409	PEX16	ORPHA:912
HP:0004325	Decreased body weight	5190	PEX6	ORPHA:772
HP:0004325	Decreased body weight	5190	PEX6	ORPHA:912
HP:0004325	Decreased body weight	8799	PEX11B	ORPHA:772
HP:0004325	Decreased body weight	8799	PEX11B	ORPHA:912
HP:0004325	Decreased body weight	5830	PEX5	ORPHA:772
HP:0004325	Decreased body weight	5830	PEX5	OMIM:214110
HP:0004325	Decreased body weight	5830	PEX5	ORPHA:912
HP:0004325	Decreased body weight	5189	PEX1	ORPHA:772
HP:0004325	Decreased body weight	5189	PEX1	OMIM:214100
HP:0004325	Decreased body weight	5189	PEX1	ORPHA:912
HP:0004325	Decreased body weight	5193	PEX12	ORPHA:772
HP:0004325	Decreased body weight	5193	PEX12	ORPHA:912
HP:0004325	Decreased body weight	5193	PEX12	OMIM:266510
HP:0004325	Decreased body weight	5194	PEX13	ORPHA:772
HP:0004325	Decreased body weight	5194	PEX13	OMIM:614883
HP:0004325	Decreased body weight	5194	PEX13	ORPHA:912
HP:0004325	Decreased body weight	5195	PEX14	ORPHA:772
HP:0004325	Decreased body weight	5195	PEX14	ORPHA:912
HP:0004325	Decreased body weight	5192	PEX10	ORPHA:772
HP:0004325	Decreased body weight	5192	PEX10	ORPHA:912
HP:0004325	Decreased body weight	201595	STT3B	ORPHA:370924
HP:0004325	Decreased body weight	201595	STT3B	OMIM:615597
HP:0004325	Decreased body weight	6748	SSR4	ORPHA:370927
HP:0004325	Decreased body weight	6748	SSR4	OMIM:300934
HP:0004325	Decreased body weight	5317	PKP1	ORPHA:158668
HP:0004325	Decreased body weight	7482	WNT2B	OMIM:618168
HP:0004325	Decreased body weight	63899	NSUN3	OMIM:619012
HP:0004325	Decreased body weight	203190	LGI3	OMIM:620007
HP:0004325	Decreased body weight	284058	KANSL1	OMIM:610443
HP:0004325	Decreased body weight	875	CBS	OMIM:236200
HP:0004325	Decreased body weight	84081	NSRP1	OMIM:620001
HP:0004325	Decreased body weight	5468	PPARG	ORPHA:528
HP:0004325	Decreased body weight	10555	AGPAT2	ORPHA:528
HP:0004325	Decreased body weight	284119	CAVIN1	ORPHA:528
HP:0004325	Decreased body weight	284119	CAVIN1	OMIM:613327
HP:0004325	Decreased body weight	26580	BSCL2	ORPHA:528
HP:0004325	Decreased body weight	2353	FOS	ORPHA:528
HP:0004325	Decreased body weight	10079	ATP9A	OMIM:620242
HP:0004325	Decreased body weight	2801	GOLGA2	OMIM:620240
HP:0004325	Decreased body weight	50617	ATP6V0A4	OMIM:602722
HP:0004325	Decreased body weight	116150	NUS1	OMIM:617082
HP:0004325	Decreased body weight	116150	NUS1	ORPHA:442835
HP:0004325	Decreased body weight	118429	ANTXR2	OMIM:228600
HP:0004325	Decreased body weight	118429	ANTXR2	ORPHA:2176
HP:0004325	Decreased body weight	1373	CPS1	OMIM:237300
HP:0004325	Decreased body weight	5696	PSMB8	OMIM:256040
HP:0004325	Decreased body weight	25886	POC1A	OMIM:614813
HP:0004325	Decreased body weight	128	ADH5	OMIM:619151
HP:0004325	Decreased body weight	64374	SIL1	OMIM:248800
HP:0004325	Decreased body weight	6399	TRAPPC2	ORPHA:93284
HP:0004325	Decreased body weight	6535	SLC6A8	OMIM:300352
HP:0004325	Decreased body weight	6309	SC5D	ORPHA:46059
HP:0004325	Decreased body weight	6775	STAT4	ORPHA:85410
HP:0004325	Decreased body weight	3560	IL2RB	ORPHA:85410
HP:0004325	Decreased body weight	3560	IL2RB	OMIM:618495
HP:0004325	Decreased body weight	79722	ANKRD55	ORPHA:85410
HP:0004325	Decreased body weight	26191	PTPN22	ORPHA:85410
HP:0004325	Decreased body weight	919	CD247	ORPHA:85410
HP:0004325	Decreased body weight	5771	PTPN2	ORPHA:85410
HP:0004325	Decreased body weight	5393	EXOSC9	OMIM:618065
HP:0004325	Decreased body weight	5393	EXOSC9	ORPHA:2254
HP:0004325	Decreased body weight	10312	TCIRG1	OMIM:259700
HP:0004325	Decreased body weight	5009	OTC	OMIM:311250
HP:0004325	Decreased body weight	25821	MTO1	OMIM:614702
HP:0004325	Decreased body weight	987	LRBA	OMIM:614700
HP:0004325	Decreased body weight	51343	FZR1	OMIM:620145
HP:0004325	Decreased body weight	51343	FZR1	ORPHA:442835
HP:0004325	Decreased body weight	80232	WDR26	ORPHA:513456
HP:0004325	Decreased body weight	51506	UFC1	OMIM:618076
HP:0004325	Decreased body weight	63916	ELMO2	ORPHA:3019
HP:0004325	Decreased body weight	79947	DHDDS	OMIM:613861
HP:0004325	Decreased body weight	79947	DHDDS	ORPHA:442835
HP:0004325	Decreased body weight	841	CASP8	OMIM:607271
HP:0004325	Decreased body weight	55788	LMBRD1	OMIM:277380
HP:0004325	Decreased body weight	55788	LMBRD1	ORPHA:79284
HP:0004325	Decreased body weight	80055	PGAP1	OMIM:615802
HP:0004325	Decreased body weight	6662	SOX9	OMIM:114290
HP:0004325	Decreased body weight	55780	ERMARD	ORPHA:75857
HP:0004325	Decreased body weight	429	ASCL1	ORPHA:99803
HP:0004325	Decreased body weight	8929	PHOX2B	ORPHA:99803
HP:0004325	Decreased body weight	3242	HPD	OMIM:140350
HP:0004325	Decreased body weight	3242	HPD	ORPHA:2118
HP:0004325	Decreased body weight	771	CA12	OMIM:143860
HP:0004325	Decreased body weight	79631	EFL1	ORPHA:811
HP:0004325	Decreased body weight	79631	EFL1	OMIM:617941
HP:0004325	Decreased body weight	51119	SBDS	ORPHA:811
HP:0004325	Decreased body weight	51119	SBDS	OMIM:260400
HP:0004325	Decreased body weight	6729	SRP54	ORPHA:811
HP:0004325	Decreased body weight	6729	SRP54	OMIM:260400
HP:0004325	Decreased body weight	6439	SFTPB	OMIM:265120
HP:0004325	Decreased body weight	87178	PNPT1	ORPHA:319514
HP:0004325	Decreased body weight	1738	DLD	ORPHA:2394
HP:0004325	Decreased body weight	4001	LMNB1	OMIM:619179
HP:0004325	Decreased body weight	84876	ORAI1	OMIM:612782
HP:0004325	Decreased body weight	3988	LIPA	OMIM:278000
HP:0004325	Decreased body weight	92579	G6PC3	OMIM:612541
HP:0004325	Decreased body weight	55858	TMEM165	OMIM:614727
HP:0004325	Decreased body weight	9839	ZEB2	ORPHA:261552
HP:0004325	Decreased body weight	9839	ZEB2	ORPHA:261537
HP:0004325	Decreased body weight	50674	NEUROG3	OMIM:610370
HP:0004325	Decreased body weight	6885	MAP3K7	OMIM:157800
HP:0004325	Decreased body weight	7170	TPM3	OMIM:255310
HP:0004325	Decreased body weight	7170	TPM3	ORPHA:2020
HP:0004325	Decreased body weight	1591	CYP24A1	OMIM:143880
HP:0004325	Decreased body weight	23545	ATP6V0A2	OMIM:278250
HP:0004325	Decreased body weight	23545	ATP6V0A2	OMIM:219200
HP:0004325	Decreased body weight	23545	ATP6V0A2	ORPHA:2834
HP:0004325	Decreased body weight	23545	ATP6V0A2	ORPHA:357074
HP:0004325	Decreased body weight	84300	UQCC2	OMIM:615824
HP:0004325	Decreased body weight	113235	SLC46A1	OMIM:229050
HP:0004325	Decreased body weight	113235	SLC46A1	ORPHA:90045
HP:0004325	Decreased body weight	63894	VIPAS39	OMIM:613404
HP:0004325	Decreased body weight	79053	ALG8	OMIM:608104
HP:0004325	Decreased body weight	79053	ALG8	ORPHA:79325
HP:0004325	Decreased body weight	53834	FGFRL1	OMIM:194190
HP:0004325	Decreased body weight	1487	CTBP1	OMIM:194190
HP:0004325	Decreased body weight	1487	CTBP1	ORPHA:280
HP:0004325	Decreased body weight	3954	LETM1	OMIM:194190
HP:0004325	Decreased body weight	3954	LETM1	ORPHA:280
HP:0004325	Decreased body weight	10815	CPLX1	OMIM:194190
HP:0004325	Decreased body weight	10815	CPLX1	ORPHA:280
HP:0004325	Decreased body weight	84947	SERAC1	OMIM:614739
HP:0004325	Decreased body weight	1798	DPAGT1	ORPHA:86309
HP:0004325	Decreased body weight	6125	RPL5	OMIM:612561
HP:0004325	Decreased body weight	4519	MT-CYB	ORPHA:137675
HP:0004325	Decreased body weight	773	CACNA1A	ORPHA:2131
HP:0004325	Decreased body weight	773	CACNA1A	ORPHA:442835
HP:0004325	Decreased body weight	6507	SLC1A3	ORPHA:2131
HP:0004325	Decreased body weight	477	ATP1A2	ORPHA:2131
HP:0004325	Decreased body weight	477	ATP1A2	ORPHA:442835
HP:0004325	Decreased body weight	478	ATP1A3	ORPHA:2131
HP:0004325	Decreased body weight	478	ATP1A3	ORPHA:442835
HP:0004325	Decreased body weight	90624	LYRM7	OMIM:615838
HP:0004325	Decreased body weight	1650	DDOST	OMIM:614507
HP:0004325	Decreased body weight	1650	DDOST	ORPHA:300536
HP:0004325	Decreased body weight	10056	FARSB	OMIM:613658
HP:0004325	Decreased body weight	128674	PROKR2	ORPHA:95496
HP:0004325	Decreased body weight	89884	LHX4	ORPHA:95496
HP:0004325	Decreased body weight	55717	WDR11	ORPHA:95496
HP:0004325	Decreased body weight	6091	ROBO1	ORPHA:95496
HP:0004325	Decreased body weight	8820	HESX1	ORPHA:95496
HP:0004325	Decreased body weight	23432	GPR161	ORPHA:95496
HP:0004325	Decreased body weight	11128	POLR3A	OMIM:264090
HP:0004325	Decreased body weight	11128	POLR3A	ORPHA:3455
HP:0004325	Decreased body weight	79759	ZNF668	OMIM:620194
HP:0004325	Decreased body weight	1303	COL12A1	ORPHA:536516
HP:0004325	Decreased body weight	182	JAG1	OMIM:118450
HP:0004325	Decreased body weight	9440	MED17	OMIM:613668
HP:0004325	Decreased body weight	917	CD3G	OMIM:615607
HP:0004325	Decreased body weight	51128	SAR1B	ORPHA:71
HP:0004325	Decreased body weight	51128	SAR1B	OMIM:246700
HP:0004325	Decreased body weight	55343	SLC35C1	ORPHA:99843
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:98754
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:177904
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:177901
HP:0004325	Decreased body weight	4692	NDN	ORPHA:98754
HP:0004325	Decreased body weight	4692	NDN	ORPHA:177904
HP:0004325	Decreased body weight	4692	NDN	ORPHA:177901
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:98754
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:177904
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:177901
HP:0004325	Decreased body weight	695	BTK	ORPHA:47
HP:0004325	Decreased body weight	8813	DPM1	OMIM:608799
HP:0004325	Decreased body weight	8813	DPM1	ORPHA:79322
HP:0004325	Decreased body weight	9652	SKIC3	OMIM:222470
HP:0004325	Decreased body weight	55275	VPS53	OMIM:615851
HP:0004325	Decreased body weight	445	ASS1	OMIM:215700
HP:0004325	Decreased body weight	915	CD3D	OMIM:615617
HP:0004325	Decreased body weight	6314	ATXN7	ORPHA:94147
HP:0004325	Decreased body weight	171023	ASXL1	OMIM:605039
HP:0004325	Decreased body weight	8694	DGAT1	OMIM:615863
HP:0004325	Decreased body weight	1288	COL4A6	ORPHA:1018
HP:0004325	Decreased body weight	1287	COL4A5	ORPHA:1018
HP:0004325	Decreased body weight	9663	LPIN2	OMIM:609628
HP:0004325	Decreased body weight	9663	LPIN2	ORPHA:77297
HP:0004325	Decreased body weight	91949	COG7	OMIM:608779
HP:0004325	Decreased body weight	91949	COG7	ORPHA:79333
HP:0004325	Decreased body weight	2245	FGD1	OMIM:305400
HP:0004325	Decreased body weight	6569	SLC34A1	OMIM:616963
HP:0004325	Decreased body weight	132	ADK	OMIM:614300
HP:0004325	Decreased body weight	23394	ADNP	OMIM:615873
HP:0004325	Decreased body weight	4072	EPCAM	OMIM:613217
HP:0004325	Decreased body weight	4072	EPCAM	ORPHA:92050
HP:0004325	Decreased body weight	6948	TCN2	OMIM:275350
HP:0004325	Decreased body weight	79796	ALG9	OMIM:608776
HP:0004325	Decreased body weight	3981	LIG4	OMIM:606593
HP:0004325	Decreased body weight	3981	LIG4	ORPHA:39041
HP:0004325	Decreased body weight	1806	DPYD	OMIM:274270
HP:0004325	Decreased body weight	54931	TRMT10C	OMIM:616974
HP:0004325	Decreased body weight	4792	NFKBIA	OMIM:612132
HP:0004325	Decreased body weight	2782	GNB1	OMIM:616973
HP:0004325	Decreased body weight	2782	GNB1	ORPHA:488613
HP:0004325	Decreased body weight	131118	DNAJC19	OMIM:610198
HP:0004325	Decreased body weight	8085	KMT2D	ORPHA:2322
HP:0004325	Decreased body weight	79644	SRD5A3	OMIM:612379
HP:0004325	Decreased body weight	117581	TWIST2	ORPHA:1231
HP:0004325	Decreased body weight	3097	HIVEP2	OMIM:616977
HP:0004325	Decreased body weight	7547	ZIC3	OMIM:306955
HP:0004325	Decreased body weight	7037	TFRC	OMIM:616740
HP:0004325	Decreased body weight	4358	MPV17	OMIM:256810
HP:0004325	Decreased body weight	10616	RBCK1	OMIM:615895
HP:0004325	Decreased body weight	130589	GALM	ORPHA:570422
HP:0004325	Decreased body weight	6868	ADAM17	OMIM:614328
HP:0004325	Decreased body weight	2917	GRM7	OMIM:618922
HP:0004325	Decreased body weight	2917	GRM7	ORPHA:1934
HP:0004325	Decreased body weight	81620	CDT1	ORPHA:2554
HP:0004325	Decreased body weight	81620	CDT1	OMIM:613804
HP:0004325	Decreased body weight	5000	ORC4	ORPHA:2554
HP:0004325	Decreased body weight	5000	ORC4	OMIM:613800
HP:0004325	Decreased body weight	23594	ORC6	ORPHA:2554
HP:0004325	Decreased body weight	23594	ORC6	OMIM:613803
HP:0004325	Decreased body weight	990	CDC6	ORPHA:2554
HP:0004325	Decreased body weight	990	CDC6	OMIM:613805
HP:0004325	Decreased body weight	51053	GMNN	ORPHA:2554
HP:0004325	Decreased body weight	51053	GMNN	OMIM:616835
HP:0004325	Decreased body weight	84693	MCEE	OMIM:251120
HP:0004325	Decreased body weight	1349	COX7B	ORPHA:2556
HP:0004325	Decreased body weight	3052	HCCS	ORPHA:2556
HP:0004325	Decreased body weight	4982	TNFRSF11B	OMIM:239000
HP:0004325	Decreased body weight	7286	TUFT1	OMIM:607655
HP:0004325	Decreased body weight	25	ABL1	OMIM:617602
HP:0004325	Decreased body weight	57511	COG6	OMIM:614576
HP:0004325	Decreased body weight	26227	PHGDH	ORPHA:79351
HP:0004325	Decreased body weight	3868	KRT16	ORPHA:2309
HP:0004325	Decreased body weight	3872	KRT17	ORPHA:2309
HP:0004325	Decreased body weight	3853	KRT6A	ORPHA:2309
HP:0004325	Decreased body weight	3854	KRT6B	ORPHA:2309
HP:0004325	Decreased body weight	326625	MMAB	OMIM:251110
HP:0004325	Decreased body weight	760	CA2	ORPHA:2785
HP:0004325	Decreased body weight	60	ACTB	OMIM:243310
HP:0004325	Decreased body weight	60	ACTB	ORPHA:2995
HP:0004325	Decreased body weight	23476	BRD4	ORPHA:199
HP:0004325	Decreased body weight	9126	SMC3	ORPHA:199
HP:0004325	Decreased body weight	8243	SMC1A	ORPHA:199
HP:0004325	Decreased body weight	8243	SMC1A	ORPHA:220386
HP:0004325	Decreased body weight	25836	NIPBL	ORPHA:199
HP:0004325	Decreased body weight	55869	HDAC8	ORPHA:199
HP:0004325	Decreased body weight	5885	RAD21	ORPHA:199
HP:0004325	Decreased body weight	10664	CTCF	ORPHA:363611
HP:0004325	Decreased body weight	55180	LINS1	OMIM:614340
HP:0004325	Decreased body weight	11222	MRPL3	OMIM:614582
HP:0004325	Decreased body weight	51520	LARS1	OMIM:615438
HP:0004325	Decreased body weight	55617	TASP1	OMIM:618950
HP:0004325	Decreased body weight	6182	MRPL12	OMIM:618951
HP:0004325	Decreased body weight	60528	ELAC2	OMIM:615440
HP:0004325	Decreased body weight	57688	ZSWIM6	OMIM:617865
HP:0004325	Decreased body weight	2893	GRIA4	OMIM:617864
HP:0004325	Decreased body weight	28957	MRPS28	OMIM:618958
HP:0004325	Decreased body weight	50615	IL21R	OMIM:615207
HP:0004325	Decreased body weight	57570	TRMT5	OMIM:616539
HP:0004325	Decreased body weight	3033	HADH	ORPHA:71212
HP:0004325	Decreased body weight	617	BCS1L	OMIM:124000
HP:0004325	Decreased body weight	139285	AMER1	OMIM:300373
HP:0004325	Decreased body weight	6389	SDHA	ORPHA:255241
HP:0004325	Decreased body weight	80704	SLC19A3	ORPHA:255241
HP:0004325	Decreased body weight	91942	NDUFAF2	ORPHA:255241
HP:0004325	Decreased body weight	91942	NDUFAF2	ORPHA:2609
HP:0004325	Decreased body weight	6834	SURF1	ORPHA:255241
HP:0004325	Decreased body weight	6834	SURF1	OMIM:220110
HP:0004325	Decreased body weight	6834	SURF1	ORPHA:70474
HP:0004325	Decreased body weight	4723	NDUFV1	ORPHA:255241
HP:0004325	Decreased body weight	4723	NDUFV1	ORPHA:2609
HP:0004325	Decreased body weight	55572	FOXRED1	ORPHA:255241
HP:0004325	Decreased body weight	55572	FOXRED1	ORPHA:2609
HP:0004325	Decreased body weight	4729	NDUFV2	ORPHA:255241
HP:0004325	Decreased body weight	4729	NDUFV2	ORPHA:2609
HP:0004325	Decreased body weight	4729	NDUFV2	OMIM:618229
HP:0004325	Decreased body weight	55967	NDUFA12	ORPHA:255241
HP:0004325	Decreased body weight	51204	TACO1	ORPHA:255241
HP:0004325	Decreased body weight	4720	NDUFS2	ORPHA:255241
HP:0004325	Decreased body weight	4720	NDUFS2	ORPHA:2609
HP:0004325	Decreased body weight	4720	NDUFS2	OMIM:618228
HP:0004325	Decreased body weight	4720	NDUFS2	ORPHA:70474
HP:0004325	Decreased body weight	4724	NDUFS4	ORPHA:255241
HP:0004325	Decreased body weight	4724	NDUFS4	OMIM:252010
HP:0004325	Decreased body weight	4724	NDUFS4	ORPHA:2609
HP:0004325	Decreased body weight	4728	NDUFS8	ORPHA:255241
HP:0004325	Decreased body weight	4728	NDUFS8	ORPHA:2609
HP:0004325	Decreased body weight	137682	NDUFAF6	ORPHA:255241
HP:0004325	Decreased body weight	4722	NDUFS3	ORPHA:255241
HP:0004325	Decreased body weight	4722	NDUFS3	ORPHA:2609
HP:0004325	Decreased body weight	79133	NDUFAF5	ORPHA:255241
HP:0004325	Decreased body weight	79133	NDUFAF5	ORPHA:2609
HP:0004325	Decreased body weight	79133	NDUFAF5	OMIM:618238
HP:0004325	Decreased body weight	5160	PDHA1	ORPHA:255241
HP:0004325	Decreased body weight	100131801	PET100	ORPHA:255241
HP:0004325	Decreased body weight	100131801	PET100	OMIM:619055
HP:0004325	Decreased body weight	1355	COX15	ORPHA:255241
HP:0004325	Decreased body weight	1892	ECHS1	ORPHA:255241
HP:0004325	Decreased body weight	123263	MTFMT	ORPHA:255241
HP:0004325	Decreased body weight	51079	NDUFA13	ORPHA:255241
HP:0004325	Decreased body weight	51079	NDUFA13	OMIM:618249
HP:0004325	Decreased body weight	374291	NDUFS7	ORPHA:255241
HP:0004325	Decreased body weight	374291	NDUFS7	ORPHA:2609
HP:0004325	Decreased body weight	4705	NDUFA10	ORPHA:255241
HP:0004325	Decreased body weight	51601	LIPT1	ORPHA:255241
HP:0004325	Decreased body weight	4719	NDUFS1	ORPHA:255241
HP:0004325	Decreased body weight	4719	NDUFS1	ORPHA:2609
HP:0004325	Decreased body weight	4719	NDUFS1	OMIM:618226
HP:0004325	Decreased body weight	4695	NDUFA2	ORPHA:255241
HP:0004325	Decreased body weight	4695	NDUFA2	OMIM:618235
HP:0004325	Decreased body weight	4704	NDUFA9	ORPHA:255241
HP:0004325	Decreased body weight	54802	TRIT1	OMIM:617873
HP:0004325	Decreased body weight	51081	MRPS7	OMIM:617872
HP:0004325	Decreased body weight	1537	CYC1	OMIM:615453
HP:0004325	Decreased body weight	26503	SLC17A5	OMIM:269920
HP:0004325	Decreased body weight	133686	NADK2	ORPHA:431361
HP:0004325	Decreased body weight	133686	NADK2	OMIM:616034
HP:0004325	Decreased body weight	3458	IFNG	OMIM:618963
HP:0004325	Decreased body weight	5449	POU1F1	OMIM:613038
HP:0004325	Decreased body weight	4621	MYH3	ORPHA:2990
HP:0004325	Decreased body weight	4621	MYH3	OMIM:193700
HP:0004325	Decreased body weight	4621	MYH3	ORPHA:2053
HP:0004325	Decreased body weight	1146	CHRNG	ORPHA:2990
HP:0004325	Decreased body weight	26123	TCTN3	ORPHA:2753
HP:0004325	Decreased body weight	26123	TCTN3	ORPHA:2754
HP:0004325	Decreased body weight	71	ACTG1	ORPHA:2995
HP:0004325	Decreased body weight	10210	TOPORS	ORPHA:2754
HP:0004325	Decreased body weight	9851	KIAA0753	ORPHA:2754
HP:0004325	Decreased body weight	5147	PDE6D	ORPHA:2754
HP:0004325	Decreased body weight	8481	OFD1	ORPHA:2754
HP:0004325	Decreased body weight	317662	FAM149B1	ORPHA:2754
HP:0004325	Decreased body weight	374654	KIF7	ORPHA:2754
HP:0004325	Decreased body weight	374654	KIF7	OMIM:200990
HP:0004325	Decreased body weight	672	BRCA1	OMIM:617883
HP:0004325	Decreased body weight	4153	MBL2	OMIM:614372
HP:0004325	Decreased body weight	523	ATP6V1A	OMIM:617403
HP:0004325	Decreased body weight	523	ATP6V1A	ORPHA:442835
HP:0004325	Decreased body weight	523	ATP6V1A	ORPHA:357074
HP:0004325	Decreased body weight	242	ALOX12B	ORPHA:79394
HP:0004325	Decreased body weight	204219	CERS3	ORPHA:79394
HP:0004325	Decreased body weight	285848	PNPLA1	ORPHA:79394
HP:0004325	Decreased body weight	59344	ALOXE3	ORPHA:79394
HP:0004325	Decreased body weight	348938	NIPAL4	ORPHA:79394
HP:0004325	Decreased body weight	7051	TGM1	ORPHA:79394
HP:0004325	Decreased body weight	6929	TCF3	OMIM:619824
HP:0004325	Decreased body weight	6929	TCF3	ORPHA:33110
HP:0004325	Decreased body weight	3852	KRT5	ORPHA:79396
HP:0004325	Decreased body weight	2746	GLUD1	OMIM:606762
HP:0004325	Decreased body weight	100	ADA	ORPHA:277
HP:0004325	Decreased body weight	100	ADA	ORPHA:39041
HP:0004325	Decreased body weight	100	ADA	OMIM:102700
HP:0004325	Decreased body weight	3561	IL2RG	ORPHA:276
HP:0004325	Decreased body weight	3561	IL2RG	OMIM:300400
HP:0004325	Decreased body weight	3561	IL2RG	ORPHA:39041
HP:0004325	Decreased body weight	8036	SHOC2	OMIM:607721
HP:0004325	Decreased body weight	64421	DCLRE1C	ORPHA:275
HP:0004325	Decreased body weight	64421	DCLRE1C	OMIM:603554
HP:0004325	Decreased body weight	64421	DCLRE1C	OMIM:602450
HP:0004325	Decreased body weight	64421	DCLRE1C	ORPHA:39041
HP:0004325	Decreased body weight	25915	NDUFAF3	ORPHA:2609
HP:0004325	Decreased body weight	25915	NDUFAF3	ORPHA:70474
HP:0004325	Decreased body weight	51103	NDUFAF1	ORPHA:2609
HP:0004325	Decreased body weight	51103	NDUFAF1	OMIM:618234
HP:0004325	Decreased body weight	51300	TIMMDC1	ORPHA:2609
HP:0004325	Decreased body weight	51300	TIMMDC1	OMIM:618251
HP:0004325	Decreased body weight	4716	NDUFB10	ORPHA:2609
HP:0004325	Decreased body weight	284184	NDUFAF8	ORPHA:2609
HP:0004325	Decreased body weight	55863	TMEM126B	ORPHA:2609
HP:0004325	Decreased body weight	55863	TMEM126B	OMIM:618250
HP:0004325	Decreased body weight	4537	MT-ND3	ORPHA:2609
HP:0004325	Decreased body weight	4537	MT-ND3	ORPHA:255210
HP:0004325	Decreased body weight	4694	NDUFA1	ORPHA:2609
HP:0004325	Decreased body weight	4726	NDUFS6	ORPHA:2609
HP:0004325	Decreased body weight	126328	NDUFA11	ORPHA:2609
HP:0004325	Decreased body weight	4709	NDUFB3	ORPHA:2609
HP:0004325	Decreased body weight	4709	NDUFB3	OMIM:618246
HP:0004325	Decreased body weight	80224	NUBPL	ORPHA:2609
HP:0004325	Decreased body weight	29078	NDUFAF4	ORPHA:2609
HP:0004325	Decreased body weight	29078	NDUFAF4	OMIM:618237
HP:0004325	Decreased body weight	4700	NDUFA6	ORPHA:2609
HP:0004325	Decreased body weight	4536	MT-ND2	ORPHA:2609
HP:0004325	Decreased body weight	4536	MT-ND2	ORPHA:255210
HP:0004325	Decreased body weight	4715	NDUFB9	ORPHA:2609
HP:0004325	Decreased body weight	3551	IKBKB	OMIM:615592
HP:0004325	Decreased body weight	10617	STAMBP	OMIM:614261
HP:0004325	Decreased body weight	8367	H4C5	OMIM:619950
HP:0004325	Decreased body weight	229	ALDOB	OMIM:229600
HP:0004325	Decreased body weight	57128	LYRM4	OMIM:615595
HP:0004325	Decreased body weight	197322	ACSF3	OMIM:614265
HP:0004325	Decreased body weight	197322	ACSF3	ORPHA:289504
HP:0004325	Decreased body weight	3703	STT3A	OMIM:615596
HP:0004325	Decreased body weight	3703	STT3A	ORPHA:370921
HP:0004325	Decreased body weight	6016	RIT1	OMIM:615355
HP:0004325	Decreased body weight	10054	UBA2	OMIM:619959
HP:0004325	Decreased body weight	4860	PNP	OMIM:613179
HP:0004325	Decreased body weight	2720	GLB1	OMIM:230600
HP:0004325	Decreased body weight	80270	HSD3B7	ORPHA:79301
HP:0004325	Decreased body weight	80270	HSD3B7	OMIM:607765
HP:0004325	Decreased body weight	79783	SUGCT	ORPHA:35706
HP:0004325	Decreased body weight	79783	SUGCT	OMIM:231690
HP:0004325	Decreased body weight	79848	CSPP1	ORPHA:397715
HP:0004325	Decreased body weight	9786	KIAA0586	ORPHA:397715
HP:0004325	Decreased body weight	4577	MT-TV	ORPHA:255210
HP:0004325	Decreased body weight	4508	MT-ATP6	ORPHA:255210
HP:0004325	Decreased body weight	4508	MT-ATP6	ORPHA:225154
HP:0004325	Decreased body weight	4566	MT-TK	ORPHA:255210
HP:0004325	Decreased body weight	3074	HEXB	ORPHA:309162
HP:0004325	Decreased body weight	249	ALPL	OMIM:241500
HP:0004325	Decreased body weight	3021	H3-3B	OMIM:619721
HP:0004325	Decreased body weight	1528	CYB5A	ORPHA:90796
HP:0004325	Decreased body weight	1586	CYP17A1	ORPHA:90796
HP:0004325	Decreased body weight	1586	CYP17A1	ORPHA:90793
HP:0004325	Decreased body weight	51111	KMT5B	OMIM:617788
HP:0004325	Decreased body weight	790	CAD	OMIM:616457
HP:0004325	Decreased body weight	6523	SLC5A1	ORPHA:35710
HP:0004325	Decreased body weight	6523	SLC5A1	OMIM:606824
HP:0004325	Decreased body weight	3284	HSD3B2	ORPHA:90791
HP:0004325	Decreased body weight	6440	SFTPC	OMIM:610913
HP:0004325	Decreased body weight	23474	ETHE1	ORPHA:51188
HP:0004325	Decreased body weight	23474	ETHE1	OMIM:602473
HP:0004325	Decreased body weight	137492	VPS37A	ORPHA:319199
HP:0004325	Decreased body weight	91869	RFT1	ORPHA:244310
HP:0004325	Decreased body weight	91869	RFT1	OMIM:612015
HP:0004325	Decreased body weight	4853	NOTCH2	OMIM:102500
HP:0004325	Decreased body weight	4853	NOTCH2	ORPHA:955
HP:0004325	Decreased body weight	8560	DEGS1	OMIM:618404
HP:0004325	Decreased body weight	21	ABCA3	OMIM:610921
HP:0004325	Decreased body weight	5566	PRKACA	ORPHA:289
HP:0004325	Decreased body weight	5567	PRKACB	ORPHA:289
HP:0004325	Decreased body weight	2735	GLI1	ORPHA:289
HP:0004325	Decreased body weight	2121	EVC	ORPHA:289
HP:0004325	Decreased body weight	51626	DYNC2LI1	ORPHA:289
HP:0004325	Decreased body weight	132884	EVC2	ORPHA:289
HP:0004325	Decreased body weight	652	BMP4	OMIM:607932
HP:0004325	Decreased body weight	54872	PIGG	ORPHA:280
HP:0004325	Decreased body weight	7469	NELFA	ORPHA:280
HP:0004325	Decreased body weight	22872	SEC31A	OMIM:618651
HP:0004325	Decreased body weight	54968	TMEM70	OMIM:614052
HP:0004325	Decreased body weight	4297	KMT2A	ORPHA:319182
HP:0004325	Decreased body weight	4297	KMT2A	OMIM:605130
HP:0004325	Decreased body weight	28755	TRAC	OMIM:615387
HP:0004325	Decreased body weight	2783	GNB2	OMIM:619503
HP:0004325	Decreased body weight	3737	KCNA2	ORPHA:442835
HP:0004325	Decreased body weight	1759	DNM1	ORPHA:442835
HP:0004325	Decreased body weight	1759	DNM1	OMIM:620352
HP:0004325	Decreased body weight	8120	AP3B2	ORPHA:442835
HP:0004325	Decreased body weight	10991	SLC38A3	ORPHA:442835
HP:0004325	Decreased body weight	22906	TRAK1	ORPHA:442835
HP:0004325	Decreased body weight	22906	TRAK1	OMIM:618201
HP:0004325	Decreased body weight	2566	GABRG2	ORPHA:442835
HP:0004325	Decreased body weight	1917	EEF1A2	ORPHA:442835
HP:0004325	Decreased body weight	2561	GABRB2	ORPHA:442835
HP:0004325	Decreased body weight	8831	SYNGAP1	ORPHA:442835
HP:0004325	Decreased body weight	7532	YWHAG	ORPHA:442835
HP:0004325	Decreased body weight	79876	UBA5	ORPHA:442835
HP:0004325	Decreased body weight	79876	UBA5	OMIM:617132
HP:0004325	Decreased body weight	6328	SCN3A	ORPHA:442835
HP:0004325	Decreased body weight	6328	SCN3A	OMIM:617938
HP:0004325	Decreased body weight	2558	GABRA5	ORPHA:442835
HP:0004325	Decreased body weight	781	CACNA2D1	ORPHA:442835
HP:0004325	Decreased body weight	2906	GRIN2D	ORPHA:442835
HP:0004325	Decreased body weight	2906	GRIN2D	OMIM:617162
HP:0004325	Decreased body weight	10659	CELF2	ORPHA:442835
HP:0004325	Decreased body weight	774	CACNA1B	ORPHA:442835
HP:0004325	Decreased body weight	1213	CLTC	ORPHA:442835
HP:0004325	Decreased body weight	51741	WWOX	ORPHA:442835
HP:0004325	Decreased body weight	23334	SZT2	ORPHA:442835
HP:0004325	Decreased body weight	51412	ACTL6B	ORPHA:442835
HP:0004325	Decreased body weight	348980	HCN1	ORPHA:442835
HP:0004325	Decreased body weight	6506	SLC1A2	ORPHA:442835
HP:0004325	Decreased body weight	8867	SYNJ1	ORPHA:442835
HP:0004325	Decreased body weight	2258	FGF13	ORPHA:442835
HP:0004325	Decreased body weight	3745	KCNB1	ORPHA:442835
HP:0004325	Decreased body weight	284111	SLC13A5	ORPHA:442835
HP:0004325	Decreased body weight	25977	NECAP1	ORPHA:442835
HP:0004325	Decreased body weight	6334	SCN8A	ORPHA:442835
HP:0004325	Decreased body weight	22866	CNKSR2	ORPHA:442835
HP:0004325	Decreased body weight	9568	GABBR2	ORPHA:442835
HP:0004325	Decreased body weight	2555	GABRA2	ORPHA:442835
HP:0004325	Decreased body weight	55152	DALRD3	ORPHA:442835
HP:0004325	Decreased body weight	26999	CYFIP2	ORPHA:442835
HP:0004325	Decreased body weight	4915	NTRK2	ORPHA:442835
HP:0004325	Decreased body weight	25973	PARS2	ORPHA:442835
HP:0004325	Decreased body weight	23097	CDK19	ORPHA:442835
HP:0004325	Decreased body weight	64801	ARV1	ORPHA:442835
HP:0004325	Decreased body weight	2257	FGF12	ORPHA:442835
HP:0004325	Decreased body weight	7092	TLL1	ORPHA:99106
HP:0004325	Decreased body weight	8241	RBM10	OMIM:311900
HP:0004325	Decreased body weight	8241	RBM10	ORPHA:2886
HP:0004325	Decreased body weight	1789	DNMT3B	OMIM:242860
HP:0004325	Decreased body weight	10804	GJB6	ORPHA:477
HP:0004325	Decreased body weight	2706	GJB2	ORPHA:477
HP:0004325	Decreased body weight	9056	SLC7A7	ORPHA:470
HP:0004325	Decreased body weight	9056	SLC7A7	OMIM:222700
HP:0004325	Decreased body weight	1182	CLCN3	OMIM:619512
HP:0004325	Decreased body weight	142680	SLC34A3	OMIM:241530
HP:0004325	Decreased body weight	54914	FOCAD	OMIM:619991
HP:0004325	Decreased body weight	9453	GGPS1	OMIM:619518
HP:0004325	Decreased body weight	2592	GALT	OMIM:230400
HP:0004325	Decreased body weight	8021	NUP214	OMIM:618426
HP:0004325	Decreased body weight	4191	MDH2	OMIM:617339
HP:0004325	Decreased body weight	166785	MMAA	OMIM:251100
HP:0004325	Decreased body weight	5551	PRF1	OMIM:603553
HP:0004325	Decreased body weight	554	AVPR2	ORPHA:223
HP:0004325	Decreased body weight	554	AVPR2	OMIM:304800
HP:0004325	Decreased body weight	359	AQP2	ORPHA:223
HP:0004325	Decreased body weight	359	AQP2	OMIM:125800
HP:0004325	Decreased body weight	9533	POLR1C	OMIM:616494
HP:0004325	Decreased body weight	9533	POLR1C	ORPHA:861
HP:0004325	Decreased body weight	5971	RELB	OMIM:617585
HP:0004325	Decreased body weight	2542	SLC37A4	OMIM:619525
HP:0004325	Decreased body weight	2542	SLC37A4	ORPHA:79259
HP:0004325	Decreased body weight	57492	ARID1B	ORPHA:251056
HP:0004325	Decreased body weight	675	BRCA2	OMIM:605724
HP:0004325	Decreased body weight	2271	FH	OMIM:606812
HP:0004325	Decreased body weight	57724	EPG5	OMIM:242840
HP:0004325	Decreased body weight	51651	PTRH2	OMIM:616263
HP:0004325	Decreased body weight	51651	PTRH2	ORPHA:456312
HP:0004325	Decreased body weight	5692	PSMB4	OMIM:617591
HP:0004325	Decreased body weight	5698	PSMB9	OMIM:617591
HP:0004325	Decreased body weight	79989	IFT56	OMIM:619534
HP:0004325	Decreased body weight	84522	JAGN1	OMIM:616022
HP:0004325	Decreased body weight	3930	LBR	OMIM:169400
HP:0004325	Decreased body weight	29929	ALG6	ORPHA:79320
HP:0004325	Decreased body weight	79087	ALG12	ORPHA:79324
HP:0004325	Decreased body weight	79087	ALG12	OMIM:607143
HP:0004325	Decreased body weight	10195	ALG3	OMIM:601110
HP:0004325	Decreased body weight	6595	SMARCA2	OMIM:601358
HP:0004325	Decreased body weight	27247	NFU1	OMIM:605711
HP:0004325	Decreased body weight	6261	RYR1	OMIM:619542
HP:0004325	Decreased body weight	6261	RYR1	ORPHA:424107
HP:0004325	Decreased body weight	57505	AARS2	OMIM:614096
HP:0004325	Decreased body weight	3763	KCNJ6	OMIM:614098
HP:0004325	Decreased body weight	3763	KCNJ6	ORPHA:435628
HP:0004325	Decreased body weight	5256	PHKA2	ORPHA:264580
HP:0004325	Decreased body weight	5261	PHKG2	ORPHA:264580
HP:0004325	Decreased body weight	6792	CDKL5	ORPHA:1934
HP:0004325	Decreased body weight	3736	KCNA1	ORPHA:1934
HP:0004325	Decreased body weight	9091	PIGQ	ORPHA:1934
HP:0004325	Decreased body weight	2775	GNAO1	ORPHA:1934
HP:0004325	Decreased body weight	81603	TRIM8	ORPHA:1934
HP:0004325	Decreased body weight	2902	GRIN1	ORPHA:1934
HP:0004325	Decreased body weight	79751	SLC25A22	ORPHA:1934
HP:0004325	Decreased body weight	150094	SIK1	ORPHA:1934
HP:0004325	Decreased body weight	23312	DMXL2	ORPHA:1934
HP:0004325	Decreased body weight	170302	ARX	ORPHA:1934
HP:0004325	Decreased body weight	11284	PNKP	ORPHA:1934
HP:0004325	Decreased body weight	6326	SCN2A	ORPHA:1934
HP:0004325	Decreased body weight	51227	PIGP	ORPHA:1934
HP:0004325	Decreased body weight	6324	SCN1B	ORPHA:1934
HP:0004325	Decreased body weight	4761	NEUROD2	ORPHA:1934
HP:0004325	Decreased body weight	204	AK2	ORPHA:33355
HP:0004325	Decreased body weight	846	CASR	OMIM:239200
HP:0004325	Decreased body weight	4594	MMUT	ORPHA:79312
HP:0004325	Decreased body weight	4594	MMUT	OMIM:251000
HP:0004325	Decreased body weight	54808	DYM	ORPHA:239
HP:0004325	Decreased body weight	973	CD79A	ORPHA:33110
HP:0004325	Decreased body weight	973	CD79A	OMIM:613501
HP:0004325	Decreased body weight	974	CD79B	ORPHA:33110
HP:0004325	Decreased body weight	3543	IGLL1	ORPHA:33110
HP:0004325	Decreased body weight	29760	BLNK	ORPHA:33110
HP:0004325	Decreased body weight	5295	PIK3R1	ORPHA:33110
HP:0004325	Decreased body weight	56262	LRRC8A	ORPHA:33110
HP:0004325	Decreased body weight	84706	GPT2	OMIM:616281
HP:0004325	Decreased body weight	84706	GPT2	ORPHA:477673
HP:0004325	Decreased body weight	5076	PAX2	ORPHA:97362
HP:0004325	Decreased body weight	5087	PBX1	ORPHA:97362
HP:0004325	Decreased body weight	30000	TNPO2	OMIM:619556
HP:0004325	Decreased body weight	54892	NCAPG2	OMIM:618460
HP:0004325	Decreased body weight	498	ATP5F1A	OMIM:616045
HP:0004325	Decreased body weight	498	ATP5F1A	OMIM:620358
HP:0004325	Decreased body weight	79705	LRRK1	OMIM:615198
HP:0004325	Decreased body weight	51728	POLR3K	OMIM:619310
HP:0004325	Decreased body weight	8818	DPM2	ORPHA:329178
HP:0004325	Decreased body weight	256297	PTF1A	OMIM:609069
HP:0004325	Decreased body weight	2627	GATA6	OMIM:600001
HP:0004325	Decreased body weight	2627	GATA6	ORPHA:2255
HP:0004325	Decreased body weight	58484	NLRC4	OMIM:616050
HP:0004325	Decreased body weight	1387	CREBBP	ORPHA:353281
HP:0004325	Decreased body weight	1387	CREBBP	OMIM:180849
HP:0004325	Decreased body weight	1387	CREBBP	ORPHA:353277
HP:0004325	Decreased body weight	26275	HIBCH	ORPHA:88639
HP:0004325	Decreased body weight	26275	HIBCH	OMIM:250620
HP:0004325	Decreased body weight	29998	BICRA	OMIM:619325
HP:0004325	Decreased body weight	22861	NLRP1	OMIM:617388
HP:0004325	Decreased body weight	2033	EP300	ORPHA:353284
HP:0004325	Decreased body weight	2033	EP300	OMIM:180849
HP:0004325	Decreased body weight	10166	SLC25A15	ORPHA:415
HP:0004325	Decreased body weight	10166	SLC25A15	OMIM:238970
HP:0004325	Decreased body weight	79068	FTO	OMIM:612938
HP:0004325	Decreased body weight	8869	ST3GAL5	OMIM:609056
HP:0004325	Decreased body weight	57551	TAOK1	OMIM:619575
HP:0004325	Decreased body weight	2530	FUT8	OMIM:618005
HP:0004325	Decreased body weight	1956	EGFR	OMIM:616069
HP:0004325	Decreased body weight	54496	PRMT7	OMIM:617157
HP:0004325	Decreased body weight	7019	TFAM	OMIM:617156
HP:0004325	Decreased body weight	3394	IRF8	OMIM:226990
HP:0004325	Decreased body weight	5831	PYCR1	OMIM:612940
HP:0004325	Decreased body weight	29920	PYCR2	ORPHA:481152
HP:0004325	Decreased body weight	29920	PYCR2	OMIM:616420
HP:0004325	Decreased body weight	22845	DOLK	OMIM:610768
HP:0004325	Decreased body weight	22845	DOLK	ORPHA:91131
HP:0004325	Decreased body weight	10483	SEC23B	ORPHA:201
HP:0004325	Decreased body weight	5728	PTEN	ORPHA:201
HP:0004325	Decreased body weight	6390	SDHB	ORPHA:201
HP:0004325	Decreased body weight	6392	SDHD	ORPHA:201
HP:0004325	Decreased body weight	6391	SDHC	ORPHA:201
HP:0004325	Decreased body weight	207	AKT1	ORPHA:201
HP:0004325	Decreased body weight	205717	USF3	ORPHA:201
HP:0004325	Decreased body weight	5290	PIK3CA	ORPHA:201
HP:0004325	Decreased body weight	5290	PIK3CA	ORPHA:60040
HP:0004325	Decreased body weight	100144748	KLLN	ORPHA:201
HP:0004325	Decreased body weight	80324	PUS1	OMIM:600462
HP:0004325	Decreased body weight	25942	SIN3A	ORPHA:94065
HP:0004325	Decreased body weight	191	AHCY	ORPHA:88618
HP:0004325	Decreased body weight	191	AHCY	OMIM:613752
HP:0004325	Decreased body weight	9496	TBX4	ORPHA:261279
HP:0004325	Decreased body weight	8091	HMGA2	ORPHA:94063
HP:0004325	Decreased body weight	23592	LEMD3	ORPHA:94063
HP:0004325	Decreased body weight	26276	VPS33B	OMIM:208085
HP:0004325	Decreased body weight	4714	NDUFB8	OMIM:618252
HP:0004325	Decreased body weight	4714	NDUFB8	ORPHA:70474
HP:0004325	Decreased body weight	84701	COX4I2	OMIM:612714
HP:0004325	Decreased body weight	2628	GATM	OMIM:612718
HP:0004325	Decreased body weight	9791	PTDSS1	OMIM:151050
HP:0004325	Decreased body weight	11340	EXOSC8	OMIM:616081
HP:0004325	Decreased body weight	11340	EXOSC8	ORPHA:2254
HP:0004325	Decreased body weight	35	ACADS	OMIM:201470
HP:0004325	Decreased body weight	35	ACADS	ORPHA:26792
HP:0004325	Decreased body weight	9420	CYP7B1	OMIM:613812
HP:0004325	Decreased body weight	55636	CHD7	ORPHA:39041
HP:0004325	Decreased body weight	3575	IL7R	ORPHA:39041
HP:0004325	Decreased body weight	3575	IL7R	ORPHA:169154
HP:0004325	Decreased body weight	84172	POLR1B	ORPHA:861
HP:0004325	Decreased body weight	51082	POLR1D	ORPHA:861
HP:0004325	Decreased body weight	6949	TCOF1	ORPHA:861
HP:0004325	Decreased body weight	374354	NHLRC2	OMIM:618278
HP:0004325	Decreased body weight	440138	ALG11	ORPHA:280071
HP:0004325	Decreased body weight	23287	AGTPBP1	OMIM:618276
HP:0004325	Decreased body weight	23287	AGTPBP1	ORPHA:2254
HP:0004325	Decreased body weight	64093	SMOC1	OMIM:206920
HP:0004325	Decreased body weight	64093	SMOC1	ORPHA:1106
HP:0004325	Decreased body weight	6299	SALL1	ORPHA:857
HP:0004325	Decreased body weight	51339	DACT1	ORPHA:857
HP:0004325	Decreased body weight	55898	UNC45A	OMIM:619377
HP:0004325	Decreased body weight	23636	NUP62	ORPHA:225154
HP:0004325	Decreased body weight	23636	NUP62	OMIM:271930
HP:0004325	Decreased body weight	103	ADAR	ORPHA:225154
HP:0004325	Decreased body weight	51371	POMP	OMIM:618048
HP:0004325	Decreased body weight	2332	FMR1	ORPHA:261483
HP:0004325	Decreased body weight	1984	EIF5A	OMIM:619376
HP:0004325	Decreased body weight	210	ALAD	OMIM:612740
HP:0004325	Decreased body weight	1583	CYP11A1	ORPHA:168558
HP:0004325	Decreased body weight	1583	CYP11A1	ORPHA:289548
HP:0004325	Decreased body weight	3295	HSD17B4	OMIM:261515
HP:0004325	Decreased body weight	2581	GALC	ORPHA:206436
HP:0004325	Decreased body weight	2581	GALC	OMIM:245200
HP:0004325	Decreased body weight	5660	PSAP	ORPHA:206436
HP:0004325	Decreased body weight	4693	NDP	ORPHA:649
HP:0004325	Decreased body weight	124454	EARS2	OMIM:614924
HP:0004325	Decreased body weight	23522	KAT6B	ORPHA:3047
HP:0004325	Decreased body weight	11011	TLK2	OMIM:618050
HP:0004325	Decreased body weight	3735	KARS1	OMIM:619147
HP:0004325	Decreased body weight	54938	SARS2	OMIM:613845
HP:0004325	Decreased body weight	6584	SLC22A5	OMIM:212140
HP:0004325	Decreased body weight	11113	CIT	OMIM:617090
HP:0004325	Decreased body weight	4702	NDUFA8	OMIM:619272
HP:0004325	Decreased body weight	10128	LRPPRC	OMIM:220111
HP:0004325	Decreased body weight	10128	LRPPRC	ORPHA:70472
HP:0004325	Decreased body weight	10134	BCAP31	OMIM:300475
HP:0004325	Decreased body weight	10134	BCAP31	ORPHA:369939
HP:0004325	Decreased body weight	3376	IARS1	OMIM:617093
HP:0004325	Decreased body weight	259232	NALCN	ORPHA:2053
HP:0004325	Decreased body weight	91574	MTRFR	ORPHA:254930
HP:0004325	Decreased body weight	91574	MTRFR	OMIM:613559
HP:0004325	Decreased body weight	4570	MT-TN	OMIM:220110
HP:0004325	Decreased body weight	10274	STAG1	ORPHA:502434
HP:0004325	Decreased body weight	4774	NFIA	OMIM:613735
HP:0004325	Decreased body weight	8496	PPFIBP1	OMIM:620024
HP:0004325	Decreased body weight	8443	GNPAT	OMIM:222765
HP:0004325	Decreased body weight	6341	SCO1	OMIM:619048
HP:0004325	Decreased body weight	162	AP1B1	OMIM:242150
HP:0004325	Decreased body weight	1352	COX10	OMIM:619046
HP:0004325	Decreased body weight	55163	PNPO	ORPHA:79096
HP:0004325	Decreased body weight	55163	PNPO	OMIM:610090
HP:0004325	Decreased body weight	7015	TERT	OMIM:613989
HP:0004325	Decreased body weight	7015	TERT	ORPHA:3322
HP:0004325	Decreased body weight	7535	ZAP70	OMIM:269840
HP:0004325	Decreased body weight	7535	ZAP70	ORPHA:911
HP:0004325	Decreased body weight	7298	TYMS	OMIM:620040
HP:0004325	Decreased body weight	105371045	PERCC1	ORPHA:92050
HP:0004325	Decreased body weight	51360	MBTPS2	ORPHA:2273
HP:0004325	Decreased body weight	8647	ABCB11	OMIM:601847
HP:0004325	Decreased body weight	3899	AFF3	OMIM:619297
HP:0004325	Decreased body weight	1136	CHRNA3	OMIM:191800
HP:0004325	Decreased body weight	6499	SKIC2	OMIM:614602
HP:0004325	Decreased body weight	340061	STING1	OMIM:615934
HP:0004325	Decreased body weight	3117	HLA-DQA1	OMIM:212750
HP:0004325	Decreased body weight	3119	HLA-DQB1	OMIM:212750
HP:0004325	Decreased body weight	55107	ANO1	OMIM:620045
HP:0004325	Decreased body weight	7080	NKX2-1	ORPHA:209905
HP:0004325	Decreased body weight	5095	PCCA	OMIM:606054
HP:0004325	Decreased body weight	5096	PCCB	OMIM:606054
HP:0004325	Decreased body weight	1717	DHCR7	OMIM:270400
HP:0004325	Decreased body weight	58	ACTA1	ORPHA:2020
HP:0004325	Decreased body weight	4633	MYL2	ORPHA:2020
HP:0004325	Decreased body weight	3679	ITGA7	ORPHA:2020
HP:0004325	Decreased body weight	7169	TPM2	ORPHA:2020
HP:0004325	Decreased body weight	9200	HACD1	ORPHA:2020
HP:0004325	Decreased body weight	51776	MAP3K20	ORPHA:2020
HP:0004325	Decreased body weight	132158	GLYCTK	OMIM:220120
HP:0004325	Decreased body weight	28976	ACAD9	ORPHA:99901
HP:0004325	Decreased body weight	5826	ABCD4	OMIM:614857
HP:0004325	Decreased body weight	338328	GPIHBP1	OMIM:615947
HP:0004325	Decreased body weight	2697	GJA1	OMIM:257850
HP:0004325	Decreased body weight	6521	SLC4A1	OMIM:611590
HP:0004325	Decreased body weight	9255	AIMP1	OMIM:260600
HP:0004325	Decreased body weight	540	ATP7B	ORPHA:905
HP:0004325	Decreased body weight	51010	EXOSC3	ORPHA:2254
HP:0004325	Decreased body weight	7443	VRK1	ORPHA:2254
HP:0004325	Decreased body weight	91137	SLC25A46	ORPHA:2254
HP:0004325	Decreased body weight	23600	AMACR	OMIM:214950
HP:0004325	Decreased body weight	6609	SMPD1	OMIM:257200
HP:0004325	Decreased body weight	5700	PSMC1	OMIM:620071
HP:0004325	Decreased body weight	190	NR0B1	OMIM:300200
HP:0004325	Decreased body weight	58508	KMT2C	ORPHA:261652
HP:0004325	Decreased body weight	2548	GAA	ORPHA:308552
HP:0004325	Decreased body weight	5159	PDGFRB	OMIM:601812
HP:0004325	Decreased body weight	4306	NR3C2	OMIM:177735
HP:0004325	Decreased body weight	1811	SLC26A3	OMIM:214700
HP:0004325	Decreased body weight	5832	ALDH18A1	OMIM:219150
HP:0004325	Decreased body weight	3187	HNRNPH1	OMIM:620083
HP:0004325	Decreased body weight	9342	SNAP29	OMIM:609528
HP:0004325	Decreased body weight	64220	STRA6	ORPHA:2470
HP:0004325	Decreased body weight	5915	RARB	ORPHA:2470
HP:0004325	Decreased body weight	23483	TGDS	ORPHA:1388
HP:0004325	Decreased body weight	8195	MKKS	ORPHA:2473
HP:0004325	Decreased body weight	51750	RTEL1	ORPHA:3322
HP:0004325	Decreased body weight	65057	ACD	ORPHA:3322
HP:0004325	Decreased body weight	26277	TINF2	ORPHA:3322
HP:0004325	Decreased body weight	1736	DKC1	ORPHA:3322
HP:0004325	Decreased body weight	51067	YARS2	OMIM:613561
HP:0004325	Decreased body weight	2702	GJA5	OMIM:612474
HP:0004325	Decreased body weight	2703	GJA8	OMIM:612474
HP:0004325	Decreased body weight	867	CBL	OMIM:613563
HP:0004325	Decreased body weight	55690	PACS1	ORPHA:329224
HP:0004325	Decreased body weight	79628	SH3TC2	ORPHA:99949
HP:0004325	Decreased body weight	6307	MSMO1	OMIM:616834
HP:0004325	Decreased body weight	2200	FBN1	ORPHA:2462
HP:0004325	Decreased body weight	55112	DYNC2I1	OMIM:615503
HP:0004325	Decreased body weight	63895	PIEZO2	ORPHA:2461
HP:0004325	Decreased body weight	1828	DSG1	OMIM:615508
HP:0004325	Decreased body weight	6888	TALDO1	OMIM:606003
HP:0004325	Decreased body weight	865	CBFB	OMIM:620099
HP:0004325	Decreased body weight	2068	ERCC2	ORPHA:910
HP:0004325	Decreased body weight	7507	XPA	ORPHA:910
HP:0004325	Decreased body weight	2071	ERCC3	ORPHA:910
HP:0004325	Decreased body weight	7508	XPC	ORPHA:910
HP:0004325	Decreased body weight	1643	DDB2	ORPHA:910
HP:0004325	Decreased body weight	2073	ERCC5	ORPHA:910
HP:0004325	Decreased body weight	5122	PCSK1	ORPHA:71528
HP:0004325	Decreased body weight	2632	GBE1	OMIM:232500
HP:0004325	Decreased body weight	7167	TPI1	OMIM:615512
HP:0004325	Decreased body weight	100151683	RNU4ATAC	OMIM:210710
HP:0004325	Decreased body weight	3932	LCK	OMIM:615758
HP:0004325	Decreased body weight	5443	POMC	ORPHA:71526
HP:0004325	Decreased body weight	5250	SLC25A3	ORPHA:91130
HP:0004325	Decreased body weight	4173	MCM4	OMIM:609981
HP:0004325	Decreased body weight	8050	PDHX	ORPHA:255182
HP:0004325	Decreased body weight	10157	AASS	ORPHA:2203
HP:0004325	Decreased body weight	23095	KIF1B	OMIM:256700
HP:0004325	Decreased body weight	55784	MCTP2	ORPHA:1596
HP:0004325	Decreased body weight	59067	IL21	OMIM:615767
HP:0004325	Decreased body weight	51116	MRPS2	OMIM:617950
HP:0004325	Decreased body weight	9512	PMPCB	OMIM:617954
HP:0004325	Decreased body weight	2058	EPRS1	OMIM:617951
HP:0004325	Decreased body weight	10095	ARPC1B	OMIM:617718
HP:0004325	Decreased body weight	91647	ATPAF2	OMIM:604273
HP:0004325	Decreased body weight	3758	KCNJ1	OMIM:241200
HP:0004325	Decreased body weight	54664	TMEM106B	OMIM:617964
HP:0004325	Decreased body weight	7421	VDR	OMIM:277440
HP:0004325	Decreased body weight	89874	SLC25A21	OMIM:618811
HP:0004325	Decreased body weight	55644	OSGEP	OMIM:617729
HP:0004325	Decreased body weight	2584	GALK1	ORPHA:79237
HP:0004325	Decreased body weight	7874	USP7	ORPHA:500055
HP:0004325	Decreased body weight	51501	HIKESHI	OMIM:616881
HP:0004325	Decreased body weight	23233	EXOC6B	ORPHA:93359
HP:0004325	Decreased body weight	5205	ATP8B1	OMIM:211600
HP:0004325	Decreased body weight	6925	TCF4	ORPHA:2896
HP:0004325	Decreased body weight	189	AGXT	ORPHA:93598
HP:0004325	Decreased body weight	9997	SCO2	ORPHA:70474
HP:0004325	Decreased body weight	7204	TRIO	ORPHA:476126
HP:0004325	Decreased body weight	4780	NFE2L2	OMIM:617744
HP:0004325	Decreased body weight	11005	SPINK5	OMIM:256500
HP:0004325	Decreased body weight	2670	GFAP	ORPHA:363717
HP:0004325	Decreased body weight	5500	PPP1CB	OMIM:617506
HP:0004325	Decreased body weight	54676	GTPBP2	OMIM:617988
HP:0004325	Decreased body weight	100506658	OCLN	OMIM:251290
HP:0004325	Decreased body weight	6519	SLC3A1	ORPHA:163690
HP:0004325	Decreased body weight	6519	SLC3A1	ORPHA:163693
HP:0004325	Decreased body weight	9581	PREPL	ORPHA:163690
HP:0004325	Decreased body weight	9581	PREPL	ORPHA:163693
HP:0004325	Decreased body weight	5495	PPM1B	ORPHA:163693
HP:0004325	Decreased body weight	79823	CAMKMT	ORPHA:163693
HP:0004325	Decreased body weight	9414	TJP2	OMIM:607748
HP:0004325	Decreased body weight	4841	NONO	ORPHA:466791
HP:0004325	Decreased body weight	2819	GPD1	OMIM:614480
HP:0004325	Decreased body weight	440	ASNS	OMIM:615574
HP:0004325	Decreased body weight	27040	LAT	OMIM:617514
HP:0004325	Decreased body weight	738	VPS51	OMIM:618606
HP:0004325	Decreased body weight	8815	BANF1	OMIM:614008
HP:0004325	Decreased body weight	25974	MMACHC	ORPHA:79282
HP:0004325	Decreased body weight	25974	MMACHC	OMIM:277400
HP:0004325	Decreased body weight	27249	MMADHC	ORPHA:79283
HP:0004325	Decreased body weight	5430	POLR2A	OMIM:618603
HP:0004325	Decreased body weight	6223	RPS19	OMIM:105650
HP:0004325	Decreased body weight	2639	GCDH	OMIM:231670
HP:0004325	Decreased body weight	101929726	MYMX	OMIM:619941
HP:0004325	Decreased body weight	8803	SUCLA2	OMIM:612073
HP:0004325	Decreased body weight	92935	MARS2	OMIM:616430
HP:0004325	Decreased body weight	79587	CARS2	OMIM:616672
HP:0004325	Decreased body weight	7372	UMPS	OMIM:258900
HP:0004325	Decreased body weight	55753	OGDHL	OMIM:619701
HP:0004325	Decreased body weight	5052	PRDX1	OMIM:277400
HP:0004325	Decreased body weight	2582	GALE	OMIM:230350
HP:0004325	Decreased body weight	7528	YY1	ORPHA:506358
HP:0004325	Decreased body weight	81555	YIPF5	OMIM:619278
HP:0004325	Decreased body weight	7068	THRB	OMIM:274300
HP:0004325	Decreased body weight	84942	WDR73	OMIM:251300
HP:0004325	Decreased body weight	57176	VARS2	OMIM:615917
HP:0004325	Decreased body weight	4487	MSX1	ORPHA:199302
HP:0004325	Decreased body weight	5818	NECTIN1	ORPHA:199302
HP:0004325	Decreased body weight	8626	TP63	ORPHA:199302
HP:0004325	Decreased body weight	3664	IRF6	ORPHA:199302
HP:0004325	Decreased body weight	5932	RBBP8	OMIM:606744
HP:0004325	Decreased body weight	2175	FANCA	OMIM:227650
HP:0004325	Decreased body weight	1785	DNM2	OMIM:615368
HP:0004325	Decreased body weight	1841	DTYMK	OMIM:619847
HP:0004325	Decreased body weight	318	NUDT2	OMIM:619844
HP:0004325	Decreased body weight	10847	SRCAP	ORPHA:2044
HP:0004325	Decreased body weight	10908	PNPLA6	OMIM:275400
HP:0004325	Decreased body weight	4868	NPHS1	OMIM:256300
HP:0004325	Decreased body weight	55870	ASH1L	OMIM:617796
HP:0004325	Decreased body weight	116228	COX20	OMIM:619054
HP:0004325	Decreased body weight	6884	TAF13	OMIM:617432
HP:0004325	Decreased body weight	55037	PTCD3	OMIM:619057
HP:0004325	Decreased body weight	1272	CNTN1	OMIM:612540
HP:0004325	Decreased body weight	816	CAMK2B	OMIM:617799
HP:0004325	Decreased body weight	90993	CREB3L1	OMIM:616229
HP:0004325	Decreased body weight	54675	CRLS1	OMIM:620167
HP:0004325	Decreased body weight	26053	AUTS2	ORPHA:352490
HP:0004325	Decreased body weight	26053	AUTS2	OMIM:615834
HP:0004325	Decreased body weight	7386	UQCRFS1	OMIM:618775
HP:0004325	Decreased body weight	2903	GRIN2A	ORPHA:289266
HP:0004325	Decreased body weight	2903	GRIN2A	OMIM:245570
HP:0004325	Decreased body weight	55012	PPP2R3C	OMIM:618419
HP:0004325	Decreased body weight	51021	MRPS16	OMIM:610498
HP:0004325	Decreased body weight	5447	POR	OMIM:201750
HP:0004325	Decreased body weight	55621	TRMT1	OMIM:618302
HP:0004325	Decreased body weight	4593	MUSK	OMIM:208150
HP:0004325	Decreased body weight	2321	FLT1	ORPHA:275555
HP:0004325	Decreased body weight	219736	STOX1	ORPHA:275555
HP:0004325	Decreased body weight	10699	CORIN	ORPHA:275555
HP:0004325	Decreased body weight	79753	SNIP1	OMIM:614501
HP:0004325	Decreased body weight	23345	SYNE1	ORPHA:319332
HP:0004325	Decreased body weight	23345	SYNE1	OMIM:618484
HP:0004325	Decreased body weight	7385	UQCRC2	OMIM:615160
HP:0004325	Decreased body weight	5244	ABCB4	ORPHA:69665
HP:0004325	Decreased body weight	1028	CDKN1C	ORPHA:397590
HP:0004325	Decreased body weight	641	BLM	OMIM:210900
HP:0004325	Decreased body weight	641	BLM	ORPHA:125
HP:0004325	Decreased body weight	2683	B4GALT1	ORPHA:79332
HP:0004325	Decreased body weight	5286	PIK3C2A	OMIM:618440
HP:0004325	Decreased body weight	8218	CLTCL1	ORPHA:453510
HP:0004325	Decreased body weight	2961	GTF2E2	OMIM:616943
HP:0004325	Decreased body weight	701	BUB1B	OMIM:257300
HP:0004325	Decreased body weight	6135	RPL11	ORPHA:124
HP:0004325	Decreased body weight	6138	RPL15	ORPHA:124
HP:0004325	Decreased body weight	6229	RPS24	ORPHA:124
HP:0004325	Decreased body weight	6204	RPS10	ORPHA:124
HP:0004325	Decreased body weight	6224	RPS20	ORPHA:124
HP:0004325	Decreased body weight	6165	RPL35A	ORPHA:124
HP:0004325	Decreased body weight	2623	GATA1	ORPHA:124
HP:0004325	Decreased body weight	6232	RPS27	ORPHA:124
HP:0004325	Decreased body weight	6231	RPS26	ORPHA:124
HP:0004325	Decreased body weight	11224	RPL35	ORPHA:124
HP:0004325	Decreased body weight	6160	RPL31	ORPHA:124
HP:0004325	Decreased body weight	6218	RPS17	ORPHA:124
HP:0004325	Decreased body weight	6201	RPS7	ORPHA:124
HP:0004325	Decreased body weight	6155	RPL27	ORPHA:124
HP:0004325	Decreased body weight	6154	RPL26	ORPHA:124
HP:0004325	Decreased body weight	6210	RPS15A	ORPHA:124
HP:0004325	Decreased body weight	90121	TSR2	ORPHA:124
HP:0004325	Decreased body weight	6141	RPL18	ORPHA:124
HP:0004325	Decreased body weight	6235	RPS29	ORPHA:124
HP:0004325	Decreased body weight	6234	RPS28	ORPHA:124
HP:0004325	Decreased body weight	51816	ADA2	ORPHA:124
HP:0004325	Decreased body weight	5631	PRPS1	OMIM:300661
HP:0004325	Decreased body weight	6927	HNF1A	ORPHA:324575
HP:0004325	Decreased body weight	51025	PAM16	OMIM:613320
HP:0004325	Decreased body weight	10075	HUWE1	OMIM:309590
HP:0004325	Decreased body weight	4041	LRP5	ORPHA:90050
HP:0004325	Decreased body weight	8322	FZD4	ORPHA:90050
HP:0004325	Decreased body weight	388015	RTL1	ORPHA:254534
HP:0004325	Decreased body weight	388015	RTL1	ORPHA:96184
HP:0004325	Decreased body weight	8788	DLK1	ORPHA:254534
HP:0004325	Decreased body weight	8788	DLK1	ORPHA:96184
HP:0004325	Decreased body weight	55384	MEG3	ORPHA:254534
HP:0004325	Decreased body weight	55384	MEG3	ORPHA:96184
HP:0004325	Decreased body weight	1499	CTNNB1	OMIM:615075
HP:0004325	Decreased body weight	579	NKX3-2	OMIM:613330
HP:0004325	Decreased body weight	23363	OBSL1	OMIM:612921
HP:0004325	Decreased body weight	7253	TSHR	ORPHA:424
HP:0004325	Decreased body weight	7253	TSHR	OMIM:609152
HP:0004325	Decreased body weight	55593	OTUD5	OMIM:301056
HP:0004325	Decreased body weight	23395	LARS2	OMIM:617021
HP:0004325	Decreased body weight	1062	CENPE	OMIM:616051
HP:0004325	Decreased body weight	10229	COQ7	OMIM:616733
HP:0004325	Decreased body weight	2710	GK	OMIM:307030
HP:0004325	Decreased body weight	63925	ZNF335	OMIM:615095
HP:0004325	Decreased body weight	50619	DEF6	OMIM:619573
HP:0004325	Decreased body weight	23511	NUP188	OMIM:618804
HP:0004325	Decreased body weight	1277	COL1A1	OMIM:166210
HP:0004325	Decreased body weight	1278	COL1A2	OMIM:166210
HP:0004325	Decreased body weight	9820	CUL7	OMIM:273750
HP:0004325	Decreased body weight	9361	LONP1	ORPHA:79243
HP:0004325	Decreased body weight	22827	PUF60	ORPHA:508488
HP:0004325	Decreased body weight	22827	PUF60	OMIM:615583
HP:0004325	Decreased body weight	2178	FANCE	OMIM:600901
HP:0004325	Decreased body weight	4905	NSF	OMIM:619340
HP:0004325	Decreased body weight	10046	MAMLD1	ORPHA:95706
HP:0004325	Decreased body weight	367	AR	ORPHA:95706
HP:0004325	Decreased body weight	5573	PRKAR1A	OMIM:101800
HP:0004325	Decreased body weight	3835	KIF22	ORPHA:93360
HP:0004325	Decreased body weight	57187	THOC2	OMIM:300957
HP:0004325	Decreased body weight	92002	CCNQ	OMIM:300707
HP:0004325	Decreased body weight	4796	TONSL	ORPHA:93357
HP:0004325	Decreased body weight	1727	CYB5R3	ORPHA:621
HP:0004325	Decreased body weight	6697	SPR	ORPHA:70594
HP:0004325	Decreased body weight	213	ALB	ORPHA:86816
HP:0004325	Decreased body weight	1836	SLC26A2	OMIM:222600
HP:0004325	Decreased body weight	60558	GUF1	OMIM:617065
HP:0004325	Decreased body weight	9918	NCAPD2	OMIM:617983
HP:0004325	Decreased body weight	57477	SHROOM4	ORPHA:85288
HP:0004325	Decreased body weight	10293	TRAIP	OMIM:616777
HP:0004325	Decreased body weight	9702	CEP57	OMIM:614114
HP:0004325	Decreased body weight	202018	TAPT1	OMIM:616897
HP:0004325	Decreased body weight	23397	NCAPH	OMIM:617985
HP:0004325	Decreased body weight	23310	NCAPD3	OMIM:617984
HP:0004325	Decreased body weight	10436	EMG1	OMIM:211180
HP:0004325	Decreased body weight	2177	FANCD2	OMIM:227646
HP:0004325	Decreased body weight	5805	PTS	OMIM:261640
HP:0004325	Decreased body weight	54888	NSUN2	OMIM:611091
HP:0004325	Decreased body weight	2176	FANCC	OMIM:227645
HP:0004325	Decreased body weight	37	ACADVL	ORPHA:26793
HP:0004325	Decreased body weight	29928	TIMM22	OMIM:618851
HP:0004325	Decreased body weight	1968	EIF2S3	OMIM:300148
HP:0004325	Decreased body weight	146059	CDAN1	OMIM:224120
HP:0004325	Decreased body weight	10736	SIX2	ORPHA:488437
HP:0004325	Decreased body weight	4713	NDUFB7	OMIM:620135
HP:0004325	Decreased body weight	64682	ANAPC1	ORPHA:221008
HP:0004325	Decreased body weight	10269	ZMPSTE24	ORPHA:740
HP:0004325	Decreased body weight	55697	VAC14	ORPHA:3472
HP:0004325	Decreased body weight	5191	PEX7	OMIM:215100
HP:0004325	Decreased body weight	5979	RET	OMIM:162300
HP:0004325	Decreased body weight	5979	RET	ORPHA:388
HP:0004325	Decreased body weight	1497	CTNS	OMIM:219800
HP:0004325	Decreased body weight	90268	OTULIN	OMIM:617099
HP:0004325	Decreased body weight	10043	TOM1	OMIM:619510
HP:0004325	Decreased body weight	157680	VPS13B	ORPHA:193
HP:0004325	Decreased body weight	3043	HBB	ORPHA:231214
HP:0004325	Decreased body weight	3043	HBB	ORPHA:231226
HP:0004325	Decreased body weight	5167	ENPP1	ORPHA:51608
HP:0004325	Decreased body weight	368	ABCC6	ORPHA:51608
HP:0004325	Decreased body weight	1859	DYRK1A	ORPHA:268261
HP:0004325	Decreased body weight	1859	DYRK1A	OMIM:614104
HP:0004325	Decreased body weight	7355	SLC35A2	ORPHA:356961
HP:0004325	Decreased body weight	7461	CLIP2	ORPHA:904
HP:0004325	Decreased body weight	84277	DNAJC30	ORPHA:904
HP:0004325	Decreased body weight	8468	FKBP6	ORPHA:904
HP:0004325	Decreased body weight	5982	RFC2	ORPHA:904
HP:0004325	Decreased body weight	2969	GTF2I	ORPHA:904
HP:0004325	Decreased body weight	3984	LIMK1	ORPHA:904
HP:0004325	Decreased body weight	9569	GTF2IRD1	ORPHA:904
HP:0004325	Decreased body weight	155382	VPS37D	ORPHA:904
HP:0004325	Decreased body weight	155368	METTL27	ORPHA:904
HP:0004325	Decreased body weight	114049	BUD23	ORPHA:904
HP:0004325	Decreased body weight	7458	EIF4H	ORPHA:904
HP:0004325	Decreased body weight	84163	GTF2IRD2	ORPHA:904
HP:0004325	Decreased body weight	9275	BCL7B	ORPHA:904
HP:0004325	Decreased body weight	26608	TBL2	ORPHA:904
HP:0004325	Decreased body weight	653361	NCF1	ORPHA:904
HP:0004325	Decreased body weight	135886	TMEM270	ORPHA:904
HP:0004325	Decreased body weight	51085	MLXIPL	ORPHA:904
HP:0004325	Decreased body weight	51085	MLXIPL	OMIM:194050
HP:0004325	Decreased body weight	9031	BAZ1B	ORPHA:904
HP:0004325	Decreased body weight	2006	ELN	ORPHA:904
HP:0004325	Decreased body weight	2006	ELN	OMIM:194050
HP:0004325	Decreased body weight	5880	RAC2	OMIM:618987
HP:0004325	Decreased body weight	285175	UNC80	OMIM:616801
HP:0004325	Decreased body weight	5836	PYGL	OMIM:232700
HP:0004325	Decreased body weight	3032	HADHB	ORPHA:746
HP:0004325	Decreased body weight	3030	HADHA	ORPHA:746
HP:0004325	Decreased body weight	8405	SPOP	OMIM:618829
HP:0004325	Decreased body weight	7681	MKRN3	OMIM:176270
HP:0004325	Decreased body weight	3653	IPW	OMIM:176270
HP:0004325	Decreased body weight	54551	MAGEL2	OMIM:176270
HP:0004325	Decreased body weight	54551	MAGEL2	OMIM:615547
HP:0004325	Decreased body weight	791114	PWRN1	OMIM:176270
HP:0004325	Decreased body weight	100033413	SNORD116-1	OMIM:176270
HP:0004325	Decreased body weight	8924	HERC2	OMIM:176270
HP:0004325	Decreased body weight	145624	PWAR1	OMIM:176270
HP:0004325	Decreased body weight	23742	NPAP1	OMIM:176270
HP:0004325	Decreased body weight	338433	SNORD115-1	OMIM:176270
HP:0004325	Decreased body weight	215	ABCD1	ORPHA:388
HP:0004325	Decreased body weight	2668	GDNF	ORPHA:388
HP:0004325	Decreased body weight	6608	SMO	ORPHA:388
HP:0004325	Decreased body weight	1889	ECE1	ORPHA:388
HP:0004325	Decreased body weight	6720	SREBF1	ORPHA:388
HP:0004325	Decreased body weight	1908	EDN3	ORPHA:388
HP:0004325	Decreased body weight	223117	SEMA3D	ORPHA:388
HP:0004325	Decreased body weight	538	ATP7A	ORPHA:388
HP:0004325	Decreased body weight	1910	EDNRB	ORPHA:388
HP:0004325	Decreased body weight	10512	SEMA3C	ORPHA:388
HP:0004325	Decreased body weight	2064	ERBB2	ORPHA:388
HP:0004325	Decreased body weight	2065	ERBB3	ORPHA:388
HP:0004325	Decreased body weight	4902	NRTN	ORPHA:388
HP:0004325	Decreased body weight	10743	RAI1	ORPHA:477817
HP:0004325	Decreased body weight	10743	RAI1	ORPHA:819
HP:0004325	Decreased body weight	6340	SCNN1G	ORPHA:171876
HP:0004325	Decreased body weight	6337	SCNN1A	ORPHA:171876
HP:0004325	Decreased body weight	6338	SCNN1B	ORPHA:171876
HP:0004325	Decreased body weight	2222	FDFT1	OMIM:618156
HP:0004325	Decreased body weight	83737	ITCH	OMIM:613385
HP:0004325	Decreased body weight	83737	ITCH	ORPHA:228426
HP:0004325	Decreased body weight	4056	LTC4S	OMIM:614037
HP:0004325	Decreased body weight	2260	FGFR1	ORPHA:2645
HP:0004325	Decreased body weight	3557	IL1RN	OMIM:612852
HP:0004325	Decreased body weight	2314	FLII	ORPHA:819
HP:0004325	Decreased body weight	23096	IQSEC2	ORPHA:819
HP:0004325	Decreased body weight	10522	DEAF1	ORPHA:819
HP:0004325	Decreased body weight	29072	SETD2	OMIM:620155
HP:0004325	Decreased body weight	9382	COG1	OMIM:611209
HP:0004325	Decreased body weight	3718	JAK3	ORPHA:35078
HP:0004325	Decreased body weight	25839	COG4	ORPHA:263501
HP:0004325	Decreased body weight	5422	POLA1	OMIM:301220
HP:0004325	Decreased body weight	56992	KIF15	ORPHA:261323
HP:0004325	Decreased body weight	1439	CSF2RB	ORPHA:264675
HP:0004325	Decreased body weight	1438	CSF2RA	ORPHA:264675
HP:0004325	Decreased body weight	7084	TK2	ORPHA:254875
HP:0004325	Decreased body weight	5699	PSMB10	OMIM:619175
HP:0004325	Decreased body weight	6651	SON	ORPHA:500150
HP:0004325	Decreased body weight	10463	SLC30A9	OMIM:617595
HP:0004325	Decreased body weight	27086	FOXP1	OMIM:613670
HP:0004325	Decreased body weight	9401	RECQL4	ORPHA:1225
HP:0004325	Decreased body weight	8565	YARS1	OMIM:619418
HP:0004325	Decreased body weight	50943	FOXP3	ORPHA:37042
HP:0004325	Decreased body weight	26007	TKFC	OMIM:618805
HP:0004325	Decreased body weight	5604	MAP2K1	ORPHA:1340
HP:0004325	Decreased body weight	5604	MAP2K1	OMIM:163950
HP:0004325	Decreased body weight	5605	MAP2K2	ORPHA:1340
HP:0004325	Decreased body weight	3845	KRAS	ORPHA:1340
HP:0004325	Decreased body weight	673	BRAF	ORPHA:1340
HP:0004325	Decreased body weight	673	BRAF	OMIM:163950
HP:0004325	Decreased body weight	64116	SLC39A8	ORPHA:468699
HP:0004325	Decreased body weight	10225	CD96	ORPHA:1308
HP:0004325	Decreased body weight	3431	SP110	ORPHA:79124
HP:0004325	Decreased body weight	83480	PUS3	ORPHA:488627
HP:0004325	Decreased body weight	9896	FIG4	OMIM:216340
HP:0004325	Decreased body weight	3265	HRAS	ORPHA:3071
HP:0004325	Decreased body weight	9377	COX5A	OMIM:619064
HP:0004325	Decreased body weight	56922	MCCC1	ORPHA:6
HP:0004325	Decreased body weight	64087	MCCC2	ORPHA:6
HP:0004325	Decreased body weight	29968	PSAT1	ORPHA:284417
HP:0004325	Decreased body weight	84842	HPDL	OMIM:619026
HP:0004325	Decreased body weight	56160	NSMCE3	OMIM:617241
HP:0004325	Decreased body weight	5718	PSMD12	ORPHA:529962
HP:0004325	Decreased body weight	2186	BPTF	ORPHA:529962
HP:0004325	Decreased body weight	84342	COG8	OMIM:611182
HP:0004325	Decreased body weight	4697	NDUFA4	OMIM:619065
HP:0004325	Decreased body weight	833	CARS1	OMIM:618891
HP:0004325	Decreased body weight	7043	TGFB3	OMIM:615582
HP:0004325	Decreased body weight	4654	MYOD1	OMIM:618975
HP:0004325	Decreased body weight	23495	TNFRSF13B	ORPHA:1572
HP:0004325	Decreased body weight	4790	NFKB1	ORPHA:1572
HP:0004325	Decreased body weight	4791	NFKB2	ORPHA:1572
HP:0004325	Decreased body weight	115650	TNFRSF13C	ORPHA:1572
HP:0004325	Decreased body weight	1380	CR2	ORPHA:1572
HP:0004325	Decreased body weight	8742	TNFSF12	ORPHA:1572
HP:0004325	Decreased body weight	5580	PRKCD	ORPHA:1572
HP:0004325	Decreased body weight	930	CD19	ORPHA:1572
HP:0004325	Decreased body weight	29851	ICOS	ORPHA:1572
HP:0004325	Decreased body weight	931	MS4A1	ORPHA:1572
HP:0004325	Decreased body weight	975	CD81	ORPHA:1572
HP:0004325	Decreased body weight	359948	IRF2BP2	ORPHA:1572
HP:0004325	Decreased body weight	4598	MVK	OMIM:610377
HP:0004325	Decreased body weight	3559	IL2RA	OMIM:606367
HP:0004325	Decreased body weight	26040	SETBP1	ORPHA:798
HP:0004325	Decreased body weight	5781	PTPN11	OMIM:163950
HP:0004325	Decreased body weight	8925	HERC1	ORPHA:457359
HP:0004325	Decreased body weight	50814	NSDHL	OMIM:300831
HP:0004325	Decreased body weight	50814	NSDHL	ORPHA:251383
HP:0004325	Decreased body weight	2892	GRIA3	OMIM:300699
HP:0004325	Decreased body weight	2892	GRIA3	ORPHA:364028
HP:0004325	Decreased body weight	65109	UPF3B	OMIM:300676
HP:0004325	Decreased body weight	1763	DNA2	OMIM:615156
HP:0004325	Decreased body weight	1763	DNA2	ORPHA:352470
HP:0004325	Decreased body weight	84665	MYPN	ORPHA:171439
HP:0004325	Decreased body weight	390594	KBTBD13	ORPHA:171439
HP:0004325	Decreased body weight	4703	NEB	ORPHA:171439
HP:0004325	Decreased body weight	4703	NEB	OMIM:256030
HP:0004325	Decreased body weight	4703	NEB	ORPHA:399103
HP:0004325	Decreased body weight	10324	KLHL41	ORPHA:171439
HP:0004325	Decreased body weight	7486	WRN	ORPHA:902
HP:0004325	Decreased body weight	23152	CIC	OMIM:617600
HP:0004325	Decreased body weight	6301	SARS1	OMIM:617709
HP:0004325	Decreased body weight	2201	FBN2	ORPHA:115
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:397
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:117
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:29207
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:36426
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:3287
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:397
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:703
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:545
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:797
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:747
HP:0004325	Decreased body weight	3123	HLA-DRB1	OMIM:181000
HP:0004325	Decreased body weight	8974	P4HA2	ORPHA:397
HP:0004325	Decreased body weight	54790	TET2	ORPHA:98850
HP:0004325	Decreased body weight	54790	TET2	ORPHA:98849
HP:0004325	Decreased body weight	54790	TET2	ORPHA:729
HP:0004325	Decreased body weight	861	RUNX1	ORPHA:98850
HP:0004325	Decreased body weight	6427	SRSF2	ORPHA:98850
HP:0004325	Decreased body weight	6427	SRSF2	ORPHA:98849
HP:0004325	Decreased body weight	4352	MPL	ORPHA:71493
HP:0004325	Decreased body weight	4352	MPL	ORPHA:729
HP:0004325	Decreased body weight	7066	THPO	ORPHA:71493
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:71493
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:729
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:131
HP:0004325	Decreased body weight	6622	SNCA	OMIM:605543
HP:0004325	Decreased body weight	6622	SNCA	ORPHA:411602
HP:0004325	Decreased body weight	3815	KIT	ORPHA:98849
HP:0004325	Decreased body weight	5314	PKHD1	ORPHA:53035
HP:0004325	Decreased body weight	4292	MLH1	ORPHA:144
HP:0004325	Decreased body weight	5395	PMS2	ORPHA:144
HP:0004325	Decreased body weight	27030	MLH3	ORPHA:144
HP:0004325	Decreased body weight	22909	FAN1	ORPHA:144
HP:0004325	Decreased body weight	7048	TGFBR2	ORPHA:144
HP:0004325	Decreased body weight	2956	MSH6	ORPHA:144
HP:0004325	Decreased body weight	5378	PMS1	ORPHA:144
HP:0004325	Decreased body weight	4436	MSH2	ORPHA:144
HP:0004325	Decreased body weight	1639	DCTN1	ORPHA:178509
HP:0004325	Decreased body weight	1639	DCTN1	OMIM:168605
HP:0004325	Decreased body weight	79577	CDC73	ORPHA:143
HP:0004325	Decreased body weight	2130	EWSR1	ORPHA:83469
HP:0004325	Decreased body weight	7490	WT1	ORPHA:83469
HP:0004325	Decreased body weight	7490	WT1	ORPHA:654
HP:0004325	Decreased body weight	64218	SEMA4A	ORPHA:440437
HP:0004325	Decreased body weight	9244	CRLF1	ORPHA:930
HP:0004325	Decreased body weight	4842	NOS1	ORPHA:930
HP:0004325	Decreased body weight	1890	TYMP	ORPHA:298
HP:0004325	Decreased body weight	1890	TYMP	OMIM:603041
HP:0004325	Decreased body weight	3980	LIG3	ORPHA:298
HP:0004325	Decreased body weight	6772	STAT1	OMIM:614162
HP:0004325	Decreased body weight	2859	GPR35	ORPHA:171
HP:0004325	Decreased body weight	10507	SEMA4D	ORPHA:171
HP:0004325	Decreased body weight	4485	MST1	ORPHA:171
HP:0004325	Decreased body weight	2034	EPAS1	ORPHA:276621
HP:0004325	Decreased body weight	29967	LRP12	OMIM:164310
HP:0004325	Decreased body weight	10459	MAD2L2	ORPHA:84
HP:0004325	Decreased body weight	7516	XRCC2	ORPHA:84
HP:0004325	Decreased body weight	29089	UBE2T	ORPHA:84
HP:0004325	Decreased body weight	55120	FANCL	ORPHA:84
HP:0004325	Decreased body weight	2187	FANCB	ORPHA:84
HP:0004325	Decreased body weight	2189	FANCG	ORPHA:84
HP:0004325	Decreased body weight	5888	RAD51	ORPHA:84
HP:0004325	Decreased body weight	5889	RAD51C	ORPHA:84
HP:0004325	Decreased body weight	55159	RFWD3	ORPHA:84
HP:0004325	Decreased body weight	83990	BRIP1	ORPHA:84
HP:0004325	Decreased body weight	57697	FANCM	ORPHA:84
HP:0004325	Decreased body weight	79728	PALB2	ORPHA:84
HP:0004325	Decreased body weight	79728	PALB2	ORPHA:1333
HP:0004325	Decreased body weight	84464	SLX4	ORPHA:84
HP:0004325	Decreased body weight	5621	PRNP	OMIM:600072
HP:0004325	Decreased body weight	5621	PRNP	ORPHA:157941
HP:0004325	Decreased body weight	5621	PRNP	OMIM:137440
HP:0004325	Decreased body weight	84133	ZNRF3	ORPHA:1501
HP:0004325	Decreased body weight	7157	TP53	ORPHA:1501
HP:0004325	Decreased body weight	7157	TP53	ORPHA:668
HP:0004325	Decreased body weight	7157	TP53	ORPHA:1333
HP:0004325	Decreased body weight	1029	CDKN2A	ORPHA:1501
HP:0004325	Decreased body weight	1029	CDKN2A	ORPHA:1333
HP:0004325	Decreased body weight	2626	GATA4	ORPHA:251071
HP:0004325	Decreased body weight	64127	NOD2	OMIM:617321
HP:0004325	Decreased body weight	64127	NOD2	OMIM:266600
HP:0004325	Decreased body weight	23230	VPS13A	ORPHA:2388
HP:0004325	Decreased body weight	57338	JPH3	ORPHA:98934
HP:0004325	Decreased body weight	57338	JPH3	OMIM:606438
HP:0004325	Decreased body weight	2313	FLI1	ORPHA:370348
HP:0004325	Decreased body weight	595	CCND1	ORPHA:52416
HP:0004325	Decreased body weight	595	CCND1	ORPHA:29073
HP:0004325	Decreased body weight	3492	IGH	ORPHA:52416
HP:0004325	Decreased body weight	3492	IGH	ORPHA:52417
HP:0004325	Decreased body weight	3492	IGH	ORPHA:545
HP:0004325	Decreased body weight	330	BIRC3	ORPHA:52417
HP:0004325	Decreased body weight	8915	BCL10	ORPHA:52417
HP:0004325	Decreased body weight	1743	DLST	ORPHA:29072
HP:0004325	Decreased body weight	8402	SLC25A11	ORPHA:29072
HP:0004325	Decreased body weight	54949	SDHAF2	ORPHA:29072
HP:0004325	Decreased body weight	55654	TMEM127	ORPHA:29072
HP:0004325	Decreased body weight	4763	NF1	ORPHA:29072
HP:0004325	Decreased body weight	4149	MAX	ORPHA:29072
HP:0004325	Decreased body weight	1493	CTLA4	ORPHA:900
HP:0004325	Decreased body weight	3115	HLA-DPB1	ORPHA:900
HP:0004325	Decreased body weight	3115	HLA-DPB1	ORPHA:133
HP:0004325	Decreased body weight	5657	PRTN3	ORPHA:900
HP:0004325	Decreased body weight	3113	HLA-DPA1	ORPHA:900
HP:0004325	Decreased body weight	100134444	KCNJ18	ORPHA:79102
HP:0004325	Decreased body weight	100134444	KCNJ18	OMIM:613239
HP:0004325	Decreased body weight	2556	GABRA3	ORPHA:79102
HP:0004325	Decreased body weight	779	CACNA1S	ORPHA:79102
HP:0004325	Decreased body weight	779	CACNA1S	OMIM:188580
HP:0004325	Decreased body weight	2624	GATA2	ORPHA:3226
HP:0004325	Decreased body weight	7276	TTR	ORPHA:85447
HP:0004325	Decreased body weight	4665	NAB2	ORPHA:2126
HP:0004325	Decreased body weight	6778	STAT6	ORPHA:2126
HP:0004325	Decreased body weight	8314	BAP1	ORPHA:50251
HP:0004325	Decreased body weight	1962	EHHADH	ORPHA:3337
HP:0004325	Decreased body weight	38	ACAT1	ORPHA:134
HP:0004325	Decreased body weight	811	CALR	ORPHA:131
HP:0004325	Decreased body weight	2153	F5	ORPHA:131
HP:0004325	Decreased body weight	11330	CTRC	ORPHA:103918
HP:0004325	Decreased body weight	6690	SPINK1	ORPHA:103918
HP:0004325	Decreased body weight	84868	HAVCR2	ORPHA:86884
HP:0004325	Decreased body weight	10661	KLF1	OMIM:613673
HP:0004325	Decreased body weight	644096	SDHAF1	ORPHA:3208
HP:0004325	Decreased body weight	654	BMP6	ORPHA:465508
HP:0004325	Decreased body weight	6583	SLC22A4	OMIM:180300
HP:0004325	Decreased body weight	51744	CD244	OMIM:180300
HP:0004325	Decreased body weight	4795	NFKBIL1	OMIM:180300
HP:0004325	Decreased body weight	3586	IL10	OMIM:180300
HP:0004325	Decreased body weight	3586	IL10	ORPHA:117
HP:0004325	Decreased body weight	2000	ELF4	OMIM:301074
HP:0004325	Decreased body weight	1616	DAXX	ORPHA:100075
HP:0004325	Decreased body weight	546	ATRX	ORPHA:100075
HP:0004325	Decreased body weight	10568	SLC34A2	ORPHA:60025
HP:0004325	Decreased body weight	80025	PANK2	ORPHA:216866
HP:0004325	Decreased body weight	165918	RNF168	ORPHA:420741
HP:0004325	Decreased body weight	149233	IL23R	ORPHA:117
HP:0004325	Decreased body weight	4210	MEFV	ORPHA:117
HP:0004325	Decreased body weight	1230	CCR1	ORPHA:117
HP:0004325	Decreased body weight	355	FAS	ORPHA:117
HP:0004325	Decreased body weight	3592	IL12A	ORPHA:117
HP:0004325	Decreased body weight	101928376	IL12A-AS1	ORPHA:117
HP:0004325	Decreased body weight	7099	TLR4	ORPHA:117
HP:0004325	Decreased body weight	3459	IFNGR1	ORPHA:117
HP:0004325	Decreased body weight	3459	IFNGR1	OMIM:209950
HP:0004325	Decreased body weight	720	C4A	ORPHA:117
HP:0004325	Decreased body weight	337867	UBAC2	ORPHA:117
HP:0004325	Decreased body weight	51752	ERAP1	ORPHA:117
HP:0004325	Decreased body weight	8302	KLRC4	ORPHA:117
HP:0004325	Decreased body weight	3848	KRT1	ORPHA:312
HP:0004325	Decreased body weight	3155	HMGCL	ORPHA:20
HP:0004325	Decreased body weight	596	BCL2	ORPHA:545
HP:0004325	Decreased body weight	604	BCL6	ORPHA:545
HP:0004325	Decreased body weight	5925	RB1	ORPHA:668
HP:0004325	Decreased body weight	11200	CHEK2	ORPHA:668
HP:0004325	Decreased body weight	5978	REST	ORPHA:654
HP:0004325	Decreased body weight	129563	DIS3L2	ORPHA:654
HP:0004325	Decreased body weight	9319	TRIP13	ORPHA:654
HP:0004325	Decreased body weight	10155	TRIM28	ORPHA:654
HP:0004325	Decreased body weight	11281	POU6F2	ORPHA:654
HP:0004325	Decreased body weight	2719	GPC3	ORPHA:654
HP:0004325	Decreased body weight	10320	IKZF1	ORPHA:36426
HP:0004325	Decreased body weight	23317	DNAJC13	ORPHA:411602
HP:0004325	Decreased body weight	1981	EIF4G1	ORPHA:411602
HP:0004325	Decreased body weight	55737	VPS35	ORPHA:411602
HP:0004325	Decreased body weight	120892	LRRK2	ORPHA:411602
HP:0004325	Decreased body weight	26058	GIGYF2	ORPHA:411602
HP:0004325	Decreased body weight	3141	HLCS	ORPHA:79242
HP:0004325	Decreased body weight	3569	IL6	OMIM:266600
HP:0004325	Decreased body weight	64072	CDH23	ORPHA:91347
HP:0004325	Decreased body weight	285282	RABL3	ORPHA:1333
HP:0004325	Decreased body weight	23022	PALLD	ORPHA:1333
HP:0004325	Decreased body weight	2707	GJB3	ORPHA:317
HP:0004325	Decreased body weight	2531	KDSR	ORPHA:317
HP:0004325	Decreased body weight	127534	GJB4	ORPHA:317
HP:0004325	Decreased body weight	56244	BTNL2	ORPHA:797
HP:0004325	Decreased body weight	10755	GIPC1	ORPHA:98897
HP:0004325	Decreased body weight	100996717	NOTCH2NLC	ORPHA:98897
HP:0004325	Decreased body weight	4221	MEN1	ORPHA:652
HP:0004325	Decreased body weight	1027	CDKN1B	ORPHA:652
HP:0004325	Decreased body weight	1026	CDKN1A	ORPHA:652
HP:0004325	Decreased body weight	1030	CDKN2B	ORPHA:652
HP:0004325	Decreased body weight	1031	CDKN2C	ORPHA:652
HP:0004325	Decreased body weight	551	AVP	ORPHA:30925
HP:0004325	Decreased body weight	79651	RHBDF2	ORPHA:2198
HP:0004325	Decreased body weight	3593	IL12B	ORPHA:3287
HP:0004325	Decreased body weight	6945	MLX	ORPHA:3287
HP:0004325	Decreased body weight	6850	SYK	OMIM:619381
HP:0004325	Decreased body weight	5371	PML	ORPHA:520
HP:0004325	Decreased body weight	5914	RARA	ORPHA:520
HP:0004325	Decreased body weight	81608	FIP1L1	ORPHA:520
HP:0004325	Decreased body weight	4869	NPM1	ORPHA:520
HP:0004325	Decreased body weight	64859	NABP1	ORPHA:520
HP:0004325	Decreased body weight	4926	NUMA1	ORPHA:520
HP:0004325	Decreased body weight	7704	ZBTB16	ORPHA:520
HP:0004325	Decreased body weight	81848	SPRY4	ORPHA:432
HP:0004325	Decreased body weight	60675	PROK2	ORPHA:432
HP:0004325	Decreased body weight	6870	TACR3	ORPHA:432
HP:0004325	Decreased body weight	1848	DUSP6	ORPHA:432
HP:0004325	Decreased body weight	26012	NSMF	ORPHA:432
HP:0004325	Decreased body weight	9394	HS6ST1	ORPHA:432
HP:0004325	Decreased body weight	2796	GNRH1	ORPHA:432
HP:0004325	Decreased body weight	2798	GNRHR	ORPHA:432
HP:0004325	Decreased body weight	84634	KISS1R	ORPHA:432
HP:0004325	Decreased body weight	6866	TAC3	ORPHA:432
HP:0004325	Decreased body weight	8822	FGF17	ORPHA:432
HP:0004325	Decreased body weight	3814	KISS1	ORPHA:432
HP:0004325	Decreased body weight	3730	ANOS1	OMIM:308700
HP:0004325	Decreased body weight	10382	TUBB4A	ORPHA:98805
HP:0004325	Decreased body weight	2100	ESR2	OMIM:618187
HP:0004325	Decreased body weight	1588	CYP19A1	ORPHA:91
HP:0004325	Decreased body weight	64132	XYLT2	OMIM:605822
HP:0004325	Decreased body weight	51574	LARP7	OMIM:615071
HP:0004325	Decreased body weight	23141	ANKLE2	OMIM:616681
HP:0004325	Decreased body weight	10785	WDR4	OMIM:618346
HP:0004325	Decreased body weight	10785	WDR4	OMIM:618347
HP:0004325	Decreased body weight	151648	SGO1	OMIM:616201
HP:0004325	Decreased body weight	83932	SPRTN	OMIM:616200
HP:0004325	Decreased body weight	23019	CNOT1	OMIM:619033
HP:0004325	Decreased body weight	54517	PUS7	OMIM:618342
HP:0004325	Decreased body weight	8573	CASK	OMIM:300749
HP:0004325	Decreased body weight	2629	GBA1	OMIM:608013
HP:0004325	Decreased body weight	2629	GBA1	OMIM:231000
HP:0004325	Decreased body weight	5324	PLAG1	OMIM:618907
HP:0004325	Decreased body weight	10084	PQBP1	ORPHA:93950
HP:0004325	Decreased body weight	10084	PQBP1	ORPHA:93945
HP:0004325	Decreased body weight	5745	PTH1R	OMIM:600002
HP:0004325	Decreased body weight	3481	IGF2	ORPHA:231140
HP:0004325	Decreased body weight	3481	IGF2	OMIM:616489
HP:0004325	Decreased body weight	283120	H19	ORPHA:231140
HP:0004325	Decreased body weight	10479	SLC9A6	OMIM:300243
HP:0004325	Decreased body weight	1294	COL7A1	ORPHA:89842
HP:0004325	Decreased body weight	55215	FANCI	OMIM:609053
HP:0004325	Decreased body weight	25914	RTTN	OMIM:614833
HP:0004325	Decreased body weight	50	ACO2	OMIM:614559
HP:0004325	Decreased body weight	4286	MITF	OMIM:617306
HP:0004325	Decreased body weight	2067	ERCC1	OMIM:610758
HP:0004325	Decreased body weight	3908	LAMA2	ORPHA:258
HP:0004325	Decreased body weight	55249	YY1AP1	OMIM:602531
HP:0004325	Decreased body weight	6197	RPS6KA3	OMIM:303600
HP:0004325	Decreased body weight	64135	IFIH1	OMIM:182250
HP:0004325	Decreased body weight	57190	SELENON	OMIM:602771
HP:0004325	Decreased body weight	4784	NFIX	OMIM:602535
HP:0004325	Decreased body weight	79868	ALG13	ORPHA:324422
HP:0004325	Decreased body weight	254394	MCM9	OMIM:616185
HP:0004325	Decreased body weight	54453	RIN2	OMIM:613075
HP:0004325	Decreased body weight	25885	POLR1A	OMIM:616462
HP:0004325	Decreased body weight	7343	UBTF	OMIM:617672
HP:0004325	Decreased body weight	2072	ERCC4	OMIM:278760
HP:0004325	Decreased body weight	83987	CCDC8	OMIM:614205
HP:0004325	Decreased body weight	3858	KRT10	OMIM:609165
HP:0004325	Decreased body weight	7703	PCGF2	OMIM:618371
HP:0004325	Decreased body weight	3479	IGF1	OMIM:608747
HP:0004325	Decreased body weight	1327	COX4I1	OMIM:619060
HP:0004325	Decreased body weight	1760	DMPK	ORPHA:589821
HP:0004325	Decreased body weight	271	AMPD2	ORPHA:401805
HP:0004325	Decreased body weight	372	ARCN1	OMIM:617164
HP:0004325	Decreased body weight	7156	TOP3A	OMIM:618097
HP:0004325	Decreased body weight	4174	MCM5	OMIM:617564
HP:0004325	Decreased body weight	7403	KDM6A	OMIM:300867
HP:0004325	Decreased body weight	649	BMP1	OMIM:614856
HP:0004325	Decreased body weight	6304	SATB1	OMIM:619229
HP:0004325	Decreased body weight	9419	CRIPT	OMIM:615789
HP:0004325	Decreased body weight	4000	LMNA	ORPHA:79474
HP:0004325	Decreased body weight	55768	NGLY1	OMIM:615273
HP:0004325	Decreased body weight	339983	NAT8L	OMIM:614063
HP:0004325	Decreased body weight	54809	SAMD9	OMIM:617053
HP:0004325	Decreased body weight	57003	CCDC47	OMIM:618268
HP:0004325	Decreased body weight	29081	METTL5	OMIM:618665
HP:0004325	Decreased body weight	29895	MYL11	OMIM:619110
HP:0004325	Decreased body weight	55773	TBC1D23	OMIM:617695
HP:0004325	Decreased body weight	8558	CDK10	OMIM:617694
HP:0004325	Decreased body weight	145173	B3GLCT	OMIM:261540
HP:0004325	Decreased body weight	5530	PPP3CA	OMIM:618265
HP:0004325	Decreased body weight	6711	SPTBN1	OMIM:619475
HP:0004325	Decreased body weight	51633	OTUD6B	OMIM:617452
HP:0004325	Decreased body weight	51633	OTUD6B	ORPHA:505237
HP:0004325	Decreased body weight	3643	INSR	ORPHA:508
HP:0004325	Decreased body weight	80152	CENPT	OMIM:618702
HP:0004325	Decreased body weight	150468	CKAP2L	OMIM:272440
HP:0004325	Decreased body weight	8720	MBTPS1	OMIM:618392
HP:0004325	Decreased body weight	79718	TBL1XR1	OMIM:602342
HP:0004325	Decreased body weight	2316	FLNA	OMIM:300321
HP:0004325	Decreased body weight	54880	BCOR	OMIM:300166
HP:0004325	Decreased body weight	5162	PDHB	ORPHA:255138
HP:0004325	Decreased body weight	8567	MADD	OMIM:619004
HP:0004325	Decreased body weight	8567	MADD	OMIM:619005
HP:0004325	Decreased body weight	8318	CDC45	OMIM:617063
HP:0004325	Decreased body weight	1654	DDX3X	OMIM:300958
HP:0004325	Decreased body weight	93587	TRMT10A	ORPHA:391408
HP:0004325	Decreased body weight	84919	PPP1R15B	ORPHA:391408
HP:0004325	Decreased body weight	126792	B3GALT6	OMIM:271640
HP:0004325	Decreased body weight	126792	B3GALT6	OMIM:615349
HP:0004325	Decreased body weight	8242	KDM5C	OMIM:300534
HP:0004325	Decreased body weight	9968	MED12	OMIM:300895
HP:0004325	Decreased body weight	3739	KCNA4	OMIM:618284
HP:0004325	Decreased body weight	85365	ALG2	OMIM:607906
HP:0004325	Decreased body weight	2806	GOT2	OMIM:618721
HP:0004325	Decreased body weight	55835	CENPJ	OMIM:613676
HP:0004325	Decreased body weight	5824	PEX19	OMIM:614886
HP:0004325	Decreased body weight	1788	DNMT3A	OMIM:618724
HP:0004325	Decreased body weight	3339	HSPG2	ORPHA:800
HP:0004325	Decreased body weight	9451	EIF2AK3	ORPHA:1667
HP:0004325	Decreased body weight	506	ATP5F1B	OMIM:620085
HP:0004325	Decreased body weight	4204	MECP2	OMIM:300260
HP:0004325	Decreased body weight	5611	DNAJC3	ORPHA:445062
HP:0004325	Decreased body weight	1804	DPP6	OMIM:616311
HP:0004325	Decreased body weight	83452	RAB33B	OMIM:615222
HP:0004325	Decreased body weight	22930	RAB3GAP1	OMIM:619420
HP:0004325	Decreased body weight	9276	COPB2	OMIM:617800
HP:0004325	Decreased body weight	10892	MALT1	OMIM:615468
HP:0004325	Decreased body weight	529	ATP6V1E1	OMIM:617402
HP:0004325	Decreased body weight	5426	POLE	OMIM:618336
HP:0004325	Decreased body weight	2693	GHSR	ORPHA:314811
HP:0004325	Decreased body weight	27445	PCLO	OMIM:608027
HP:0004325	Decreased body weight	3480	IGF1R	OMIM:270450
HP:0004325	Decreased body weight	27152	INTU	OMIM:617926
HP:0004325	Decreased body weight	8506	CNTNAP1	OMIM:618186
HP:0004325	Decreased body weight	9935	MAFB	ORPHA:2774
HP:0004325	Decreased body weight	4591	TRIM37	ORPHA:2576
HP:0004325	Decreased body weight	2521	FUS	ORPHA:300605
HP:0004325	Decreased body weight	80208	SPG11	ORPHA:300605
HP:0004325	Decreased body weight	10280	SIGMAR1	ORPHA:300605
HP:0004325	Decreased body weight	10558	SPTLC1	ORPHA:300605
HP:0004325	Decreased body weight	57679	ALS2	ORPHA:300605
HP:0004325	Decreased body weight	8450	CUL4B	ORPHA:85293
HP:0004325	Decreased body weight	3662	IRF4	ORPHA:3452
HP:0004325	Decreased body weight	34	ACADM	ORPHA:42
HP:0004325	Decreased body weight	545	ATR	ORPHA:808
HP:0004325	Decreased body weight	5116	PCNT	ORPHA:808
HP:0004325	Decreased body weight	79902	NUP85	ORPHA:808
HP:0004325	Decreased body weight	84126	ATRIP	ORPHA:808
HP:0004325	Decreased body weight	22995	CEP152	ORPHA:808
HP:0004325	Decreased body weight	10733	PLK4	ORPHA:808
HP:0004325	Decreased body weight	4683	NBN	ORPHA:647
HP:0004325	Decreased body weight	10273	STUB1	OMIM:618093
HP:0004325	Decreased body weight	59341	TRPV4	ORPHA:1216
HP:0004325	Decreased body weight	916	CD3E	ORPHA:169160
HP:0004325	Decreased body weight	6567	SLC16A2	ORPHA:59
HP:0004325	Decreased body weight	3064	HTT	ORPHA:399
HP:0004325	Decreased body weight	6515	SLC2A3	ORPHA:399
HP:0004325	Decreased body weight	6804	STX1A	ORPHA:586
HP:0004325	Decreased body weight	2947	GSTM3	ORPHA:586
HP:0004325	Decreased body weight	7040	TGFB1	ORPHA:586
HP:0004325	Decreased body weight	2729	GCLC	ORPHA:586
HP:0004325	Decreased body weight	1084	CEACAM3	ORPHA:586
HP:0004325	Decreased body weight	6556	SLC11A1	ORPHA:586
HP:0004325	Decreased body weight	51164	DCTN4	ORPHA:586
HP:0004325	Decreased body weight	3783	KCNN4	ORPHA:586
HP:0004325	Decreased body weight	4282	MIF	ORPHA:586
HP:0004325	Decreased body weight	1909	EDNRA	ORPHA:586
HP:0004325	Decreased body weight	6550	SLC9A3	ORPHA:586
HP:0004325	Decreased body weight	3162	HMOX1	ORPHA:586
HP:0004325	Decreased body weight	115019	SLC26A9	ORPHA:586
HP:0004325	Decreased body weight	3077	HFE	ORPHA:586
HP:0004325	Decreased body weight	11254	SLC6A14	ORPHA:586
HP:0004325	Decreased body weight	5265	SERPINA1	ORPHA:586
HP:0004325	Decreased body weight	1080	CFTR	ORPHA:586
HP:0004325	Decreased body weight	22802	CLCA4	ORPHA:586
HP:0004325	Decreased body weight	4680	CEACAM6	ORPHA:586
HP:0004325	Decreased body weight	10165	SLC25A13	ORPHA:247585
HP:0001824	Weight loss	26191	PTPN22	ORPHA:397
HP:0001824	Weight loss	26191	PTPN22	ORPHA:85408
HP:0001824	Weight loss	26191	PTPN22	ORPHA:900
HP:0001824	Weight loss	26191	PTPN22	OMIM:180300
HP:0001824	Weight loss	3106	HLA-B	ORPHA:397
HP:0001824	Weight loss	3106	HLA-B	ORPHA:117
HP:0001824	Weight loss	3106	HLA-B	ORPHA:29207
HP:0001824	Weight loss	3106	HLA-B	ORPHA:36426
HP:0001824	Weight loss	3106	HLA-B	ORPHA:3287
HP:0001824	Weight loss	3123	HLA-DRB1	ORPHA:397
HP:0001824	Weight loss	3123	HLA-DRB1	ORPHA:703
HP:0001824	Weight loss	3123	HLA-DRB1	ORPHA:545
HP:0001824	Weight loss	3123	HLA-DRB1	ORPHA:797
HP:0001824	Weight loss	3123	HLA-DRB1	ORPHA:747
HP:0001824	Weight loss	3123	HLA-DRB1	OMIM:181000
HP:0001824	Weight loss	8974	P4HA2	ORPHA:397
HP:0001824	Weight loss	3064	HTT	ORPHA:399
HP:0001824	Weight loss	3064	HTT	ORPHA:248111
HP:0001824	Weight loss	6515	SLC2A3	ORPHA:399
HP:0001824	Weight loss	171023	ASXL1	ORPHA:98850
HP:0001824	Weight loss	171023	ASXL1	ORPHA:98849
HP:0001824	Weight loss	54790	TET2	ORPHA:98850
HP:0001824	Weight loss	54790	TET2	ORPHA:98849
HP:0001824	Weight loss	54790	TET2	ORPHA:729
HP:0001824	Weight loss	867	CBL	ORPHA:98850
HP:0001824	Weight loss	861	RUNX1	ORPHA:98850
HP:0001824	Weight loss	6427	SRSF2	ORPHA:98850
HP:0001824	Weight loss	6427	SRSF2	ORPHA:98849
HP:0001824	Weight loss	4352	MPL	ORPHA:71493
HP:0001824	Weight loss	4352	MPL	ORPHA:729
HP:0001824	Weight loss	7066	THPO	ORPHA:71493
HP:0001824	Weight loss	3717	JAK2	ORPHA:71493
HP:0001824	Weight loss	3717	JAK2	ORPHA:729
HP:0001824	Weight loss	3717	JAK2	ORPHA:131
HP:0001824	Weight loss	6622	SNCA	OMIM:605543
HP:0001824	Weight loss	6622	SNCA	ORPHA:411602
HP:0001824	Weight loss	1497	CTNS	OMIM:219800
HP:0001824	Weight loss	3815	KIT	ORPHA:98849
HP:0001824	Weight loss	7253	TSHR	ORPHA:99819
HP:0001824	Weight loss	7253	TSHR	ORPHA:424
HP:0001824	Weight loss	3119	HLA-DQB1	ORPHA:703
HP:0001824	Weight loss	3119	HLA-DQB1	ORPHA:930
HP:0001824	Weight loss	3119	HLA-DQB1	OMIM:212750
HP:0001824	Weight loss	6556	SLC11A1	ORPHA:3389
HP:0001824	Weight loss	5314	PKHD1	ORPHA:53035
HP:0001824	Weight loss	4072	EPCAM	ORPHA:144
HP:0001824	Weight loss	4072	EPCAM	ORPHA:92050
HP:0001824	Weight loss	4292	MLH1	ORPHA:144
HP:0001824	Weight loss	5395	PMS2	ORPHA:144
HP:0001824	Weight loss	27030	MLH3	ORPHA:144
HP:0001824	Weight loss	22909	FAN1	ORPHA:144
HP:0001824	Weight loss	7048	TGFBR2	ORPHA:144
HP:0001824	Weight loss	3845	KRAS	ORPHA:144
HP:0001824	Weight loss	3845	KRAS	ORPHA:1333
HP:0001824	Weight loss	5290	PIK3CA	ORPHA:144
HP:0001824	Weight loss	2956	MSH6	ORPHA:144
HP:0001824	Weight loss	5378	PMS1	ORPHA:144
HP:0001824	Weight loss	4436	MSH2	ORPHA:144
HP:0001824	Weight loss	215	ABCD1	ORPHA:388
HP:0001824	Weight loss	5979	RET	ORPHA:388
HP:0001824	Weight loss	5979	RET	ORPHA:276621
HP:0001824	Weight loss	5979	RET	ORPHA:29072
HP:0001824	Weight loss	2668	GDNF	ORPHA:388
HP:0001824	Weight loss	6608	SMO	ORPHA:388
HP:0001824	Weight loss	1889	ECE1	ORPHA:388
HP:0001824	Weight loss	6720	SREBF1	ORPHA:388
HP:0001824	Weight loss	1908	EDN3	ORPHA:388
HP:0001824	Weight loss	223117	SEMA3D	ORPHA:388
HP:0001824	Weight loss	538	ATP7A	ORPHA:388
HP:0001824	Weight loss	1910	EDNRB	ORPHA:388
HP:0001824	Weight loss	10512	SEMA3C	ORPHA:388
HP:0001824	Weight loss	2064	ERBB2	ORPHA:388
HP:0001824	Weight loss	2065	ERBB3	ORPHA:388
HP:0001824	Weight loss	4902	NRTN	ORPHA:388
HP:0001824	Weight loss	1639	DCTN1	ORPHA:178509
HP:0001824	Weight loss	1639	DCTN1	OMIM:168605
HP:0001824	Weight loss	79577	CDC73	ORPHA:143
HP:0001824	Weight loss	6775	STAT4	ORPHA:85408
HP:0001824	Weight loss	6775	STAT4	ORPHA:117
HP:0001824	Weight loss	3560	IL2RB	ORPHA:85408
HP:0001824	Weight loss	79722	ANKRD55	ORPHA:85408
HP:0001824	Weight loss	919	CD247	ORPHA:85408
HP:0001824	Weight loss	3559	IL2RA	ORPHA:85408
HP:0001824	Weight loss	5771	PTPN2	ORPHA:85408
HP:0001824	Weight loss	2130	EWSR1	ORPHA:83469
HP:0001824	Weight loss	7490	WT1	ORPHA:83469
HP:0001824	Weight loss	7490	WT1	ORPHA:654
HP:0001824	Weight loss	64218	SEMA4A	ORPHA:440437
HP:0001824	Weight loss	657	BMPR1A	ORPHA:440437
HP:0001824	Weight loss	6224	RPS20	ORPHA:440437
HP:0001824	Weight loss	6523	SLC5A1	ORPHA:35710
HP:0001824	Weight loss	9244	CRLF1	ORPHA:930
HP:0001824	Weight loss	3117	HLA-DQA1	ORPHA:930
HP:0001824	Weight loss	3117	HLA-DQA1	OMIM:212750
HP:0001824	Weight loss	4842	NOS1	ORPHA:930
HP:0001824	Weight loss	5428	POLG	ORPHA:298
HP:0001824	Weight loss	5428	POLG	OMIM:613662
HP:0001824	Weight loss	5428	POLG	OMIM:607459
HP:0001824	Weight loss	5428	POLG	OMIM:603041
HP:0001824	Weight loss	1890	TYMP	ORPHA:298
HP:0001824	Weight loss	1890	TYMP	OMIM:603041
HP:0001824	Weight loss	3980	LIG3	ORPHA:298
HP:0001824	Weight loss	50484	RRM2B	ORPHA:298
HP:0001824	Weight loss	50484	RRM2B	OMIM:612075
HP:0001824	Weight loss	8029	CUBN	ORPHA:35858
HP:0001824	Weight loss	81693	AMN	ORPHA:35858
HP:0001824	Weight loss	105371045	PERCC1	ORPHA:92050
HP:0001824	Weight loss	6772	STAT1	OMIM:614162
HP:0001824	Weight loss	2859	GPR35	ORPHA:171
HP:0001824	Weight loss	10507	SEMA4D	ORPHA:171
HP:0001824	Weight loss	4485	MST1	ORPHA:171
HP:0001824	Weight loss	6925	TCF4	ORPHA:171
HP:0001824	Weight loss	7428	VHL	ORPHA:276621
HP:0001824	Weight loss	7428	VHL	ORPHA:29072
HP:0001824	Weight loss	1788	DNMT3A	ORPHA:276621
HP:0001824	Weight loss	2034	EPAS1	ORPHA:276621
HP:0001824	Weight loss	6392	SDHD	ORPHA:276621
HP:0001824	Weight loss	6392	SDHD	ORPHA:29072
HP:0001824	Weight loss	6392	SDHD	ORPHA:3208
HP:0001824	Weight loss	6392	SDHD	ORPHA:97286
HP:0001824	Weight loss	6390	SDHB	ORPHA:276621
HP:0001824	Weight loss	6390	SDHB	ORPHA:29072
HP:0001824	Weight loss	6390	SDHB	ORPHA:3208
HP:0001824	Weight loss	6390	SDHB	ORPHA:97286
HP:0001824	Weight loss	29967	LRP12	OMIM:164310
HP:0001824	Weight loss	55107	ANO1	OMIM:620045
HP:0001824	Weight loss	672	BRCA1	ORPHA:84
HP:0001824	Weight loss	672	BRCA1	ORPHA:1333
HP:0001824	Weight loss	10459	MAD2L2	ORPHA:84
HP:0001824	Weight loss	7516	XRCC2	ORPHA:84
HP:0001824	Weight loss	29089	UBE2T	ORPHA:84
HP:0001824	Weight loss	675	BRCA2	ORPHA:84
HP:0001824	Weight loss	675	BRCA2	ORPHA:654
HP:0001824	Weight loss	675	BRCA2	ORPHA:1333
HP:0001824	Weight loss	55120	FANCL	ORPHA:84
HP:0001824	Weight loss	2177	FANCD2	ORPHA:84
HP:0001824	Weight loss	2175	FANCA	ORPHA:84
HP:0001824	Weight loss	2187	FANCB	ORPHA:84
HP:0001824	Weight loss	2176	FANCC	ORPHA:84
HP:0001824	Weight loss	2178	FANCE	ORPHA:84
HP:0001824	Weight loss	2188	FANCF	ORPHA:84
HP:0001824	Weight loss	2189	FANCG	ORPHA:84
HP:0001824	Weight loss	5888	RAD51	ORPHA:84
HP:0001824	Weight loss	5889	RAD51C	ORPHA:84
HP:0001824	Weight loss	55159	RFWD3	ORPHA:84
HP:0001824	Weight loss	83990	BRIP1	ORPHA:84
HP:0001824	Weight loss	57697	FANCM	ORPHA:84
HP:0001824	Weight loss	79728	PALB2	ORPHA:84
HP:0001824	Weight loss	79728	PALB2	ORPHA:1333
HP:0001824	Weight loss	84464	SLX4	ORPHA:84
HP:0001824	Weight loss	2072	ERCC4	ORPHA:84
HP:0001824	Weight loss	55215	FANCI	ORPHA:84
HP:0001824	Weight loss	5621	PRNP	OMIM:600072
HP:0001824	Weight loss	5621	PRNP	ORPHA:157941
HP:0001824	Weight loss	5621	PRNP	OMIM:137440
HP:0001824	Weight loss	84133	ZNRF3	ORPHA:1501
HP:0001824	Weight loss	7157	TP53	ORPHA:1501
HP:0001824	Weight loss	7157	TP53	ORPHA:668
HP:0001824	Weight loss	7157	TP53	ORPHA:1333
HP:0001824	Weight loss	5573	PRKAR1A	ORPHA:1501
HP:0001824	Weight loss	5573	PRKAR1A	ORPHA:520
HP:0001824	Weight loss	1499	CTNNB1	ORPHA:1501
HP:0001824	Weight loss	1029	CDKN2A	ORPHA:1501
HP:0001824	Weight loss	1029	CDKN2A	ORPHA:1333
HP:0001824	Weight loss	7015	TERT	ORPHA:1501
HP:0001824	Weight loss	2626	GATA4	ORPHA:251071
HP:0001824	Weight loss	57190	SELENON	ORPHA:2020
HP:0001824	Weight loss	58	ACTA1	ORPHA:2020
HP:0001824	Weight loss	4633	MYL2	ORPHA:2020
HP:0001824	Weight loss	3679	ITGA7	ORPHA:2020
HP:0001824	Weight loss	7169	TPM2	ORPHA:2020
HP:0001824	Weight loss	9200	HACD1	ORPHA:2020
HP:0001824	Weight loss	7170	TPM3	ORPHA:2020
HP:0001824	Weight loss	51776	MAP3K20	ORPHA:2020
HP:0001824	Weight loss	64127	NOD2	OMIM:617321
HP:0001824	Weight loss	64127	NOD2	OMIM:266600
HP:0001824	Weight loss	1591	CYP24A1	OMIM:143880
HP:0001824	Weight loss	23230	VPS13A	ORPHA:2388
HP:0001824	Weight loss	57338	JPH3	ORPHA:98934
HP:0001824	Weight loss	57338	JPH3	OMIM:606438
HP:0001824	Weight loss	2313	FLI1	ORPHA:370348
HP:0001824	Weight loss	595	CCND1	ORPHA:52416
HP:0001824	Weight loss	595	CCND1	ORPHA:29073
HP:0001824	Weight loss	472	ATM	ORPHA:52416
HP:0001824	Weight loss	3492	IGH	ORPHA:52416
HP:0001824	Weight loss	3492	IGH	ORPHA:52417
HP:0001824	Weight loss	3492	IGH	ORPHA:545
HP:0001824	Weight loss	330	BIRC3	ORPHA:52417
HP:0001824	Weight loss	10892	MALT1	ORPHA:52417
HP:0001824	Weight loss	27086	FOXP1	ORPHA:52417
HP:0001824	Weight loss	8915	BCL10	ORPHA:52417
HP:0001824	Weight loss	540	ATP7B	ORPHA:905
HP:0001824	Weight loss	1743	DLST	ORPHA:29072
HP:0001824	Weight loss	4191	MDH2	ORPHA:29072
HP:0001824	Weight loss	6389	SDHA	ORPHA:29072
HP:0001824	Weight loss	6389	SDHA	ORPHA:3208
HP:0001824	Weight loss	23095	KIF1B	ORPHA:29072
HP:0001824	Weight loss	23095	KIF1B	OMIM:256700
HP:0001824	Weight loss	2271	FH	ORPHA:29072
HP:0001824	Weight loss	8402	SLC25A11	ORPHA:29072
HP:0001824	Weight loss	54949	SDHAF2	ORPHA:29072
HP:0001824	Weight loss	55654	TMEM127	ORPHA:29072
HP:0001824	Weight loss	4763	NF1	ORPHA:29072
HP:0001824	Weight loss	6391	SDHC	ORPHA:29072
HP:0001824	Weight loss	6391	SDHC	ORPHA:97286
HP:0001824	Weight loss	4149	MAX	ORPHA:29072
HP:0001824	Weight loss	1493	CTLA4	ORPHA:900
HP:0001824	Weight loss	3115	HLA-DPB1	ORPHA:900
HP:0001824	Weight loss	3115	HLA-DPB1	ORPHA:133
HP:0001824	Weight loss	5657	PRTN3	ORPHA:900
HP:0001824	Weight loss	3113	HLA-DPA1	ORPHA:900
HP:0001824	Weight loss	100134444	KCNJ18	ORPHA:79102
HP:0001824	Weight loss	100134444	KCNJ18	OMIM:613239
HP:0001824	Weight loss	2556	GABRA3	ORPHA:79102
HP:0001824	Weight loss	779	CACNA1S	ORPHA:79102
HP:0001824	Weight loss	779	CACNA1S	OMIM:188580
HP:0001824	Weight loss	2624	GATA2	ORPHA:3226
HP:0001824	Weight loss	7276	TTR	ORPHA:85447
HP:0001824	Weight loss	4665	NAB2	ORPHA:2126
HP:0001824	Weight loss	6778	STAT6	ORPHA:2126
HP:0001824	Weight loss	64135	IFIH1	OMIM:615846
HP:0001824	Weight loss	8314	BAP1	ORPHA:50251
HP:0001824	Weight loss	1962	EHHADH	ORPHA:3337
HP:0001824	Weight loss	2628	GATM	ORPHA:3337
HP:0001824	Weight loss	137682	NDUFAF6	ORPHA:3337
HP:0001824	Weight loss	6569	SLC34A1	ORPHA:3337
HP:0001824	Weight loss	38	ACAT1	ORPHA:134
HP:0001824	Weight loss	695	BTK	ORPHA:47
HP:0001824	Weight loss	811	CALR	ORPHA:131
HP:0001824	Weight loss	2153	F5	ORPHA:131
HP:0001824	Weight loss	11330	CTRC	ORPHA:103918
HP:0001824	Weight loss	6690	SPINK1	ORPHA:103918
HP:0001824	Weight loss	84868	HAVCR2	ORPHA:86884
HP:0001824	Weight loss	10661	KLF1	OMIM:613673
HP:0001824	Weight loss	644096	SDHAF1	ORPHA:3208
HP:0001824	Weight loss	654	BMP6	ORPHA:465508
HP:0001824	Weight loss	3077	HFE	ORPHA:465508
HP:0001824	Weight loss	6583	SLC22A4	OMIM:180300
HP:0001824	Weight loss	4261	CIITA	OMIM:180300
HP:0001824	Weight loss	51744	CD244	OMIM:180300
HP:0001824	Weight loss	4795	NFKBIL1	OMIM:180300
HP:0001824	Weight loss	3586	IL10	OMIM:180300
HP:0001824	Weight loss	3586	IL10	ORPHA:117
HP:0001824	Weight loss	2000	ELF4	OMIM:301074
HP:0001824	Weight loss	56246	MRAP	ORPHA:361
HP:0001824	Weight loss	6770	STAR	ORPHA:361
HP:0001824	Weight loss	4158	MC2R	ORPHA:361
HP:0001824	Weight loss	23530	NNT	ORPHA:361
HP:0001824	Weight loss	10587	TXNRD2	ORPHA:361
HP:0001824	Weight loss	1616	DAXX	ORPHA:100075
HP:0001824	Weight loss	546	ATRX	ORPHA:100075
HP:0001824	Weight loss	56652	TWNK	OMIM:607459
HP:0001824	Weight loss	10568	SLC34A2	ORPHA:60025
HP:0001824	Weight loss	80025	PANK2	ORPHA:216866
HP:0001824	Weight loss	165918	RNF168	ORPHA:420741
HP:0001824	Weight loss	204	AK2	ORPHA:33355
HP:0001824	Weight loss	1288	COL4A6	ORPHA:1018
HP:0001824	Weight loss	1287	COL4A5	ORPHA:1018
HP:0001824	Weight loss	149233	IL23R	ORPHA:117
HP:0001824	Weight loss	4210	MEFV	ORPHA:117
HP:0001824	Weight loss	1230	CCR1	ORPHA:117
HP:0001824	Weight loss	355	FAS	ORPHA:117
HP:0001824	Weight loss	3592	IL12A	ORPHA:117
HP:0001824	Weight loss	101928376	IL12A-AS1	ORPHA:117
HP:0001824	Weight loss	7099	TLR4	ORPHA:117
HP:0001824	Weight loss	3459	IFNGR1	ORPHA:117
HP:0001824	Weight loss	3459	IFNGR1	OMIM:209950
HP:0001824	Weight loss	720	C4A	ORPHA:117
HP:0001824	Weight loss	337867	UBAC2	ORPHA:117
HP:0001824	Weight loss	51752	ERAP1	ORPHA:117
HP:0001824	Weight loss	8302	KLRC4	ORPHA:117
HP:0001824	Weight loss	3858	KRT10	ORPHA:312
HP:0001824	Weight loss	3848	KRT1	ORPHA:312
HP:0001824	Weight loss	3155	HMGCL	ORPHA:20
HP:0001824	Weight loss	596	BCL2	ORPHA:545
HP:0001824	Weight loss	604	BCL6	ORPHA:545
HP:0001824	Weight loss	5925	RB1	ORPHA:668
HP:0001824	Weight loss	11200	CHEK2	ORPHA:668
HP:0001824	Weight loss	55630	SLC39A4	ORPHA:37
HP:0001824	Weight loss	3767	KCNJ11	ORPHA:99885
HP:0001824	Weight loss	6774	STAT3	ORPHA:99885
HP:0001824	Weight loss	6774	STAT3	ORPHA:520
HP:0001824	Weight loss	2645	GCK	ORPHA:99885
HP:0001824	Weight loss	3651	PDX1	ORPHA:99885
HP:0001824	Weight loss	6833	ABCC8	ORPHA:99885
HP:0001824	Weight loss	3630	INS	ORPHA:99885
HP:0001824	Weight loss	5978	REST	ORPHA:654
HP:0001824	Weight loss	129563	DIS3L2	ORPHA:654
HP:0001824	Weight loss	9319	TRIP13	ORPHA:654
HP:0001824	Weight loss	10155	TRIM28	ORPHA:654
HP:0001824	Weight loss	11281	POU6F2	ORPHA:654
HP:0001824	Weight loss	2719	GPC3	ORPHA:654
HP:0001824	Weight loss	283120	H19	ORPHA:654
HP:0001824	Weight loss	79158	GNPTAB	ORPHA:576
HP:0001824	Weight loss	9663	LPIN2	ORPHA:77297
HP:0001824	Weight loss	10320	IKZF1	ORPHA:36426
HP:0001824	Weight loss	2629	GBA1	ORPHA:411602
HP:0001824	Weight loss	23317	DNAJC13	ORPHA:411602
HP:0001824	Weight loss	1981	EIF4G1	ORPHA:411602
HP:0001824	Weight loss	55737	VPS35	ORPHA:411602
HP:0001824	Weight loss	120892	LRRK2	ORPHA:411602
HP:0001824	Weight loss	26058	GIGYF2	ORPHA:411602
HP:0001824	Weight loss	3141	HLCS	ORPHA:79242
HP:0001824	Weight loss	3569	IL6	OMIM:266600
HP:0001824	Weight loss	64072	CDH23	ORPHA:91347
HP:0001824	Weight loss	285282	RABL3	ORPHA:1333
HP:0001824	Weight loss	4089	SMAD4	ORPHA:1333
HP:0001824	Weight loss	23022	PALLD	ORPHA:1333
HP:0001824	Weight loss	2697	GJA1	ORPHA:317
HP:0001824	Weight loss	2707	GJB3	ORPHA:317
HP:0001824	Weight loss	2531	KDSR	ORPHA:317
HP:0001824	Weight loss	127534	GJB4	ORPHA:317
HP:0001824	Weight loss	56244	BTNL2	ORPHA:797
HP:0001824	Weight loss	10755	GIPC1	ORPHA:98897
HP:0001824	Weight loss	100996717	NOTCH2NLC	ORPHA:98897
HP:0001824	Weight loss	4000	LMNA	ORPHA:740
HP:0001824	Weight loss	10269	ZMPSTE24	ORPHA:740
HP:0001824	Weight loss	6340	SCNN1G	ORPHA:171876
HP:0001824	Weight loss	6337	SCNN1A	ORPHA:171876
HP:0001824	Weight loss	6338	SCNN1B	ORPHA:171876
HP:0001824	Weight loss	100147744	RNU7-1	OMIM:619487
HP:0001824	Weight loss	4221	MEN1	ORPHA:652
HP:0001824	Weight loss	1027	CDKN1B	ORPHA:652
HP:0001824	Weight loss	1026	CDKN1A	ORPHA:652
HP:0001824	Weight loss	1030	CDKN2B	ORPHA:652
HP:0001824	Weight loss	1031	CDKN2C	ORPHA:652
HP:0001824	Weight loss	5295	PIK3R1	ORPHA:3163
HP:0001824	Weight loss	55898	UNC45A	OMIM:619377
HP:0001824	Weight loss	551	AVP	ORPHA:30925
HP:0001824	Weight loss	79651	RHBDF2	ORPHA:2198
HP:0001824	Weight loss	3593	IL12B	ORPHA:3287
HP:0001824	Weight loss	6945	MLX	ORPHA:3287
HP:0001824	Weight loss	6850	SYK	OMIM:619381
HP:0001824	Weight loss	5371	PML	ORPHA:520
HP:0001824	Weight loss	5914	RARA	ORPHA:520
HP:0001824	Weight loss	359948	IRF2BP2	ORPHA:520
HP:0001824	Weight loss	81608	FIP1L1	ORPHA:520
HP:0001824	Weight loss	4869	NPM1	ORPHA:520
HP:0001824	Weight loss	54880	BCOR	ORPHA:520
HP:0001824	Weight loss	64859	NABP1	ORPHA:520
HP:0001824	Weight loss	6777	STAT5B	ORPHA:520
HP:0001824	Weight loss	4926	NUMA1	ORPHA:520
HP:0001824	Weight loss	7704	ZBTB16	ORPHA:520
HP:0001824	Weight loss	79718	TBL1XR1	ORPHA:520
HP:0001824	Weight loss	8506	CNTNAP1	OMIM:618186
HP:0001824	Weight loss	1080	CFTR	ORPHA:60033
HP:0001824	Weight loss	285175	UNC80	OMIM:616801
HP:0001824	Weight loss	285175	UNC80	ORPHA:371364
HP:0001824	Weight loss	259232	NALCN	ORPHA:371364
HP:0001824	Weight loss	5728	PTEN	ORPHA:109
HP:0001824	Weight loss	5728	PTEN	ORPHA:744
HP:0001824	Weight loss	5728	PTEN	ORPHA:79076
HP:0001824	Weight loss	7040	TGFB1	ORPHA:1328
HP:0001824	Weight loss	9935	MAFB	ORPHA:2774
HP:0001824	Weight loss	4591	TRIM37	ORPHA:2576
HP:0001824	Weight loss	207	AKT1	ORPHA:744
HP:0001824	Weight loss	2521	FUS	ORPHA:300605
HP:0001824	Weight loss	80208	SPG11	ORPHA:300605
HP:0001824	Weight loss	10280	SIGMAR1	ORPHA:300605
HP:0001824	Weight loss	10558	SPTLC1	ORPHA:300605
HP:0001824	Weight loss	57679	ALS2	ORPHA:300605
HP:0001824	Weight loss	6535	SLC6A8	ORPHA:52503
HP:0001824	Weight loss	2670	GFAP	ORPHA:363717
HP:0001824	Weight loss	2068	ERCC2	ORPHA:220295
HP:0001824	Weight loss	2073	ERCC5	ORPHA:220295
HP:0001824	Weight loss	2071	ERCC3	ORPHA:220295
HP:0001824	Weight loss	8450	CUL4B	ORPHA:85293
HP:0001824	Weight loss	3662	IRF4	ORPHA:3452
HP:0001824	Weight loss	3988	LIPA	ORPHA:75233
HP:0001824	Weight loss	34	ACADM	ORPHA:42
HP:0001824	Weight loss	10479	SLC9A6	ORPHA:85278
HP:0001824	Weight loss	50943	FOXP3	ORPHA:37042
HP:0001824	Weight loss	545	ATR	ORPHA:808
HP:0001824	Weight loss	1062	CENPE	ORPHA:808
HP:0001824	Weight loss	5116	PCNT	ORPHA:808
HP:0001824	Weight loss	5932	RBBP8	ORPHA:808
HP:0001824	Weight loss	79902	NUP85	ORPHA:808
HP:0001824	Weight loss	84126	ATRIP	ORPHA:808
HP:0001824	Weight loss	55835	CENPJ	ORPHA:808
HP:0001824	Weight loss	10293	TRAIP	ORPHA:808
HP:0001824	Weight loss	22995	CEP152	ORPHA:808
HP:0001824	Weight loss	10733	PLK4	ORPHA:808
HP:0001824	Weight loss	4683	NBN	ORPHA:647
HP:0001824	Weight loss	2581	GALC	ORPHA:206436
HP:0001824	Weight loss	5660	PSAP	ORPHA:206436
HP:0001824	Weight loss	4693	NDP	ORPHA:649
HP:0001824	Weight loss	3339	HSPG2	ORPHA:800
HP:0001824	Weight loss	10273	STUB1	OMIM:618093
HP:0001824	Weight loss	4204	MECP2	OMIM:312750
HP:0001824	Weight loss	8803	SUCLA2	ORPHA:1933
HP:0001824	Weight loss	59341	TRPV4	ORPHA:1216
HP:0001830	Postaxial foot polydactyly	2137	EXTL3	ORPHA:508533
HP:0001830	Postaxial foot polydactyly	55112	DYNC2I1	ORPHA:474
HP:0001830	Postaxial foot polydactyly	26160	IFT172	ORPHA:474
HP:0001830	Postaxial foot polydactyly	153241	CEP120	ORPHA:474
HP:0001830	Postaxial foot polydactyly	57560	IFT80	ORPHA:474
HP:0001830	Postaxial foot polydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001830	Postaxial foot polydactyly	79659	DYNC2H1	ORPHA:474
HP:0001830	Postaxial foot polydactyly	9742	IFT140	ORPHA:474
HP:0001830	Postaxial foot polydactyly	57728	WDR19	ORPHA:474
HP:0001830	Postaxial foot polydactyly	89891	DYNC2I2	ORPHA:474
HP:0001830	Postaxial foot polydactyly	79809	TTC21B	ORPHA:474
HP:0001830	Postaxial foot polydactyly	6309	SC5D	ORPHA:46059
HP:0001830	Postaxial foot polydactyly	6309	SC5D	OMIM:607330
HP:0001830	Postaxial foot polydactyly	57545	CC2D2A	OMIM:612284
HP:0001830	Postaxial foot polydactyly	57545	CC2D2A	ORPHA:564
HP:0001830	Postaxial foot polydactyly	26005	C2CD3	ORPHA:434179
HP:0001830	Postaxial foot polydactyly	2737	GLI3	OMIM:175700
HP:0001830	Postaxial foot polydactyly	2737	GLI3	ORPHA:380
HP:0001830	Postaxial foot polydactyly	2737	GLI3	OMIM:174200
HP:0001830	Postaxial foot polydactyly	2737	GLI3	OMIM:146510
HP:0001830	Postaxial foot polydactyly	54585	LZTFL1	OMIM:615994
HP:0001830	Postaxial foot polydactyly	2121	EVC	OMIM:193530
HP:0001830	Postaxial foot polydactyly	2121	EVC	OMIM:225500
HP:0001830	Postaxial foot polydactyly	132884	EVC2	OMIM:193530
HP:0001830	Postaxial foot polydactyly	132884	EVC2	OMIM:225500
HP:0001830	Postaxial foot polydactyly	79005	SCNM1	OMIM:620107
HP:0001830	Postaxial foot polydactyly	6608	SMO	OMIM:241800
HP:0001830	Postaxial foot polydactyly	51259	TMEM216	OMIM:608091
HP:0001830	Postaxial foot polydactyly	51259	TMEM216	ORPHA:564
HP:0001830	Postaxial foot polydactyly	79770	TXNDC15	OMIM:619879
HP:0001830	Postaxial foot polydactyly	79770	TXNDC15	ORPHA:564
HP:0001830	Postaxial foot polydactyly	56623	INPP5E	OMIM:213300
HP:0001830	Postaxial foot polydactyly	91147	TMEM67	OMIM:607361
HP:0001830	Postaxial foot polydactyly	91147	TMEM67	ORPHA:564
HP:0001830	Postaxial foot polydactyly	55209	SETD5	ORPHA:404440
HP:0001830	Postaxial foot polydactyly	55593	OTUD5	OMIM:301056
HP:0001830	Postaxial foot polydactyly	3239	HOXD13	OMIM:186000
HP:0001830	Postaxial foot polydactyly	374654	KIF7	OMIM:200990
HP:0001830	Postaxial foot polydactyly	374654	KIF7	OMIM:614120
HP:0001830	Postaxial foot polydactyly	23322	RPGRIP1L	OMIM:611561
HP:0001830	Postaxial foot polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001830	Postaxial foot polydactyly	64327	LMBR1	OMIM:174500
HP:0001830	Postaxial foot polydactyly	79867	TCTN2	OMIM:616654
HP:0001830	Postaxial foot polydactyly	79867	TCTN2	ORPHA:564
HP:0001830	Postaxial foot polydactyly	9373	PLAA	ORPHA:521426
HP:0001830	Postaxial foot polydactyly	64093	SMOC1	OMIM:206920
HP:0001830	Postaxial foot polydactyly	64093	SMOC1	ORPHA:1106
HP:0001830	Postaxial foot polydactyly	1717	DHCR7	ORPHA:818
HP:0001830	Postaxial foot polydactyly	1717	DHCR7	OMIM:270400
HP:0001830	Postaxial foot polydactyly	10225	CD96	OMIM:211750
HP:0001830	Postaxial foot polydactyly	3930	LBR	OMIM:215140
HP:0001830	Postaxial foot polydactyly	652	BMP4	ORPHA:139471
HP:0001830	Postaxial foot polydactyly	8195	MKKS	ORPHA:2473
HP:0001830	Postaxial foot polydactyly	84100	ARL6	OMIM:209900
HP:0001830	Postaxial foot polydactyly	79140	CCDC28B	OMIM:209900
HP:0001830	Postaxial foot polydactyly	582	BBS1	OMIM:209900
HP:0001830	Postaxial foot polydactyly	51684	SUFU	OMIM:617757
HP:0001830	Postaxial foot polydactyly	80173	IFT74	OMIM:617119
HP:0001830	Postaxial foot polydactyly	79583	TMEM231	ORPHA:2752
HP:0001830	Postaxial foot polydactyly	79583	TMEM231	ORPHA:564
HP:0001830	Postaxial foot polydactyly	84314	TMEM107	ORPHA:564
HP:0001830	Postaxial foot polydactyly	84314	TMEM107	OMIM:617563
HP:0001830	Postaxial foot polydactyly	26123	TCTN3	ORPHA:564
HP:0001830	Postaxial foot polydactyly	80776	B9D2	ORPHA:564
HP:0001830	Postaxial foot polydactyly	80776	B9D2	OMIM:614175
HP:0001830	Postaxial foot polydactyly	79600	TCTN1	ORPHA:564
HP:0001830	Postaxial foot polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001830	Postaxial foot polydactyly	79848	CSPP1	ORPHA:564
HP:0001830	Postaxial foot polydactyly	80184	CEP290	ORPHA:564
HP:0001830	Postaxial foot polydactyly	27077	B9D1	ORPHA:564
HP:0001830	Postaxial foot polydactyly	54903	MKS1	ORPHA:564
HP:0001830	Postaxial foot polydactyly	54903	MKS1	OMIM:249000
HP:0001830	Postaxial foot polydactyly	65062	TMEM237	ORPHA:564
HP:0001830	Postaxial foot polydactyly	27031	NPHP3	OMIM:267010
HP:0001830	Postaxial foot polydactyly	285600	KIAA0825	OMIM:618498
HP:0001830	Postaxial foot polydactyly	23288	IQCE	OMIM:617642
HP:0001830	Postaxial foot polydactyly	583	BBS2	OMIM:615981
HP:0001830	Postaxial foot polydactyly	5567	PRKACB	OMIM:619143
HP:0001830	Postaxial foot polydactyly	5147	PDE6D	OMIM:615665
HP:0001830	Postaxial foot polydactyly	137392	CIBAR1	OMIM:618219
HP:0001830	Postaxial foot polydactyly	7700	ZNF141	OMIM:615226
HP:0001830	Postaxial foot polydactyly	166379	BBS12	OMIM:615989
HP:0001830	Postaxial foot polydactyly	27241	BBS9	OMIM:615986
HP:0001830	Postaxial foot polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001830	Postaxial foot polydactyly	83479	DDX59	ORPHA:2919
HP:0001830	Postaxial foot polydactyly	4750	NEK1	OMIM:263520
HP:0001832	Abnormal metatarsal morphology	2192	FBLN1	OMIM:608180
HP:0001832	Abnormal metatarsal morphology	2254	FGF9	OMIM:612961
HP:0001832	Abnormal metatarsal morphology	64093	SMOC1	OMIM:206920
HP:0001832	Abnormal metatarsal morphology	5447	POR	ORPHA:95699
HP:0001832	Abnormal metatarsal morphology	9935	MAFB	OMIM:166300
HP:0001832	Abnormal metatarsal morphology	5144	PDE4D	ORPHA:439822
HP:0001832	Abnormal metatarsal morphology	5745	PTH1R	OMIM:600002
HP:0001832	Abnormal metatarsal morphology	2260	FGFR1	OMIM:166250
HP:0001832	Abnormal metatarsal morphology	2260	FGFR1	OMIM:123150
HP:0001832	Abnormal metatarsal morphology	2263	FGFR2	ORPHA:1540
HP:0001832	Abnormal metatarsal morphology	2263	FGFR2	OMIM:123150
HP:0001832	Abnormal metatarsal morphology	4882	NPR2	OMIM:602875
HP:0001832	Abnormal metatarsal morphology	83452	RAB33B	OMIM:615222
HP:0001832	Abnormal metatarsal morphology	81794	ADAMTS10	OMIM:277600
HP:0001832	Abnormal metatarsal morphology	3835	KIF22	ORPHA:93360
HP:0001832	Abnormal metatarsal morphology	6775	STAT4	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	3560	IL2RB	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	79722	ANKRD55	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	26191	PTPN22	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	919	CD247	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	3559	IL2RA	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	5771	PTPN2	ORPHA:85408
HP:0001832	Abnormal metatarsal morphology	6473	SHOX	OMIM:127300
HP:0001832	Abnormal metatarsal morphology	3981	LIG4	ORPHA:235
HP:0001832	Abnormal metatarsal morphology	54888	NSUN2	ORPHA:235
HP:0001832	Abnormal metatarsal morphology	4921	DDR2	OMIM:271665
HP:0001832	Abnormal metatarsal morphology	9158	FIBP	ORPHA:500095
HP:0001832	Abnormal metatarsal morphology	5828	PEX2	OMIM:614866
HP:0001832	Abnormal metatarsal morphology	7355	SLC35A2	ORPHA:356961
HP:0001832	Abnormal metatarsal morphology	5830	PEX5	OMIM:214110
HP:0001832	Abnormal metatarsal morphology	2990	GUSB	ORPHA:584
HP:0001832	Abnormal metatarsal morphology	2990	GUSB	OMIM:253220
HP:0001832	Abnormal metatarsal morphology	1836	SLC26A2	ORPHA:56304
HP:0001832	Abnormal metatarsal morphology	26137	ZBTB20	OMIM:259050
HP:0001832	Abnormal metatarsal morphology	80232	WDR26	ORPHA:513456
HP:0001832	Abnormal metatarsal morphology	1718	DHCR24	ORPHA:35107
HP:0001832	Abnormal metatarsal morphology	285590	SH3PXD2B	OMIM:249420
HP:0001832	Abnormal metatarsal morphology	51715	RAB23	OMIM:201000
HP:0001832	Abnormal metatarsal morphology	5594	MAPK1	OMIM:619087
HP:0001832	Abnormal metatarsal morphology	89910	UBE3B	OMIM:244450
HP:0001832	Abnormal metatarsal morphology	2201	FBN2	OMIM:121050
HP:0001832	Abnormal metatarsal morphology	7140	TNNT3	OMIM:618435
HP:0001832	Abnormal metatarsal morphology	6662	SOX9	OMIM:114290
HP:0001832	Abnormal metatarsal morphology	25782	RAB3GAP2	OMIM:212720
HP:0001832	Abnormal metatarsal morphology	388015	RTL1	ORPHA:96334
HP:0001832	Abnormal metatarsal morphology	8788	DLK1	ORPHA:96334
HP:0001832	Abnormal metatarsal morphology	55384	MEG3	ORPHA:96334
HP:0001832	Abnormal metatarsal morphology	5189	PEX1	OMIM:214100
HP:0001832	Abnormal metatarsal morphology	126792	B3GALT6	OMIM:271640
HP:0001832	Abnormal metatarsal morphology	4626	MYH8	OMIM:158300
HP:0001832	Abnormal metatarsal morphology	6497	SKI	OMIM:182212
HP:0001832	Abnormal metatarsal morphology	2200	FBN1	OMIM:154700
HP:0001832	Abnormal metatarsal morphology	259232	NALCN	OMIM:616266
HP:0001832	Abnormal metatarsal morphology	10381	TUBB3	ORPHA:300570
HP:0001832	Abnormal metatarsal morphology	2146	EZH2	OMIM:277590
HP:0001832	Abnormal metatarsal morphology	7136	TNNI2	OMIM:601680
HP:0001832	Abnormal metatarsal morphology	1717	DHCR7	OMIM:270400
HP:0001832	Abnormal metatarsal morphology	9469	CHST3	OMIM:245600
HP:0001832	Abnormal metatarsal morphology	26229	B3GAT3	OMIM:245600
HP:0001832	Abnormal metatarsal morphology	84823	LMNB2	OMIM:619180
HP:0001832	Abnormal metatarsal morphology	9896	FIG4	ORPHA:3472
HP:0001832	Abnormal metatarsal morphology	55697	VAC14	ORPHA:3472
HP:0001832	Abnormal metatarsal morphology	4233	MET	OMIM:620019
HP:0001832	Abnormal metatarsal morphology	63895	PIEZO2	ORPHA:2461
HP:0001832	Abnormal metatarsal morphology	53834	FGFRL1	OMIM:194190
HP:0001832	Abnormal metatarsal morphology	1487	CTBP1	OMIM:194190
HP:0001832	Abnormal metatarsal morphology	3954	LETM1	OMIM:194190
HP:0001832	Abnormal metatarsal morphology	7468	NSD2	OMIM:194190
HP:0001832	Abnormal metatarsal morphology	10815	CPLX1	OMIM:194190
HP:0001832	Abnormal metatarsal morphology	59341	TRPV4	OMIM:181405
HP:0001832	Abnormal metatarsal morphology	2737	GLI3	ORPHA:93322
HP:0001832	Abnormal metatarsal morphology	8200	GDF5	OMIM:200700
HP:0001832	Abnormal metatarsal morphology	7476	WNT7A	OMIM:276820
HP:0001832	Abnormal metatarsal morphology	7476	WNT7A	OMIM:228930
HP:0001832	Abnormal metatarsal morphology	8626	TP63	OMIM:605289
HP:0001832	Abnormal metatarsal morphology	3094	HINT1	ORPHA:324442
HP:0001832	Abnormal metatarsal morphology	9759	HDAC4	OMIM:600430
HP:0001832	Abnormal metatarsal morphology	9578	CDC42BPB	OMIM:619841
HP:0001832	Abnormal metatarsal morphology	5191	PEX7	OMIM:266500
HP:0001832	Abnormal metatarsal morphology	5264	PHYH	OMIM:266500
HP:0001832	Abnormal metatarsal morphology	94005	PIGS	OMIM:618143
HP:0001832	Abnormal metatarsal morphology	341208	HEPHL1	OMIM:261990
HP:0001832	Abnormal metatarsal morphology	89970	RSPRY1	ORPHA:457395
HP:0001832	Abnormal metatarsal morphology	89970	RSPRY1	OMIM:616723
HP:0001832	Abnormal metatarsal morphology	54585	LZTFL1	OMIM:615994
HP:0001832	Abnormal metatarsal morphology	55628	ZNF407	OMIM:619557
HP:0001832	Abnormal metatarsal morphology	79633	FAT4	OMIM:615546
HP:0001832	Abnormal metatarsal morphology	8642	DCHS1	OMIM:601390
HP:0001832	Abnormal metatarsal morphology	54496	PRMT7	ORPHA:464288
HP:0001832	Abnormal metatarsal morphology	6925	TCF4	OMIM:610954
HP:0001832	Abnormal metatarsal morphology	54101	RIPK4	ORPHA:1401
HP:0001832	Abnormal metatarsal morphology	23288	IQCE	OMIM:617642
HP:0001832	Abnormal metatarsal morphology	3549	IHH	OMIM:112500
HP:0001832	Abnormal metatarsal morphology	10216	PRG4	OMIM:208250
HP:0001832	Abnormal metatarsal morphology	2316	FLNA	OMIM:304120
HP:0001832	Abnormal metatarsal morphology	64135	IFIH1	OMIM:182250
HP:0001832	Abnormal metatarsal morphology	4041	LRP5	OMIM:144750
HP:0001832	Abnormal metatarsal morphology	2074	ERCC6	OMIM:214150
HP:0001832	Abnormal metatarsal morphology	4313	MMP2	OMIM:259600
HP:0001832	Abnormal metatarsal morphology	90	ACVR1	OMIM:135100
HP:0001832	Abnormal metatarsal morphology	90	ACVR1	ORPHA:337
HP:0001832	Abnormal metatarsal morphology	79989	IFT56	OMIM:619534
HP:0001832	Abnormal metatarsal morphology	4750	NEK1	ORPHA:2751
HP:0001832	Abnormal metatarsal morphology	124583	CANT1	OMIM:251450
HP:0001832	Abnormal metatarsal morphology	10060	ABCC9	OMIM:239850
HP:0001832	Abnormal metatarsal morphology	7291	TWIST1	OMIM:101400
HP:0001832	Abnormal metatarsal morphology	2033	EP300	OMIM:613684
HP:0001832	Abnormal metatarsal morphology	3209	HOXA13	OMIM:140000
HP:0001832	Abnormal metatarsal morphology	3209	HOXA13	ORPHA:2438
HP:0001832	Abnormal metatarsal morphology	57020	VPS35L	OMIM:619135
HP:0001832	Abnormal metatarsal morphology	23483	TGDS	ORPHA:1388
HP:0001832	Abnormal metatarsal morphology	64374	SIL1	ORPHA:559
HP:0001832	Abnormal metatarsal morphology	51763	INPP5K	ORPHA:559
HP:0001832	Abnormal metatarsal morphology	658	BMPR1B	ORPHA:93384
HP:0001832	Abnormal metatarsal morphology	3339	HSPG2	ORPHA:800
HP:0001832	Abnormal metatarsal morphology	84892	POMGNT2	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	148789	B3GALNT2	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	79147	FKRP	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	29954	POMT2	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	9215	LARGE1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	1282	COL4A1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	729920	CRPPA	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	10329	RXYLT1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	1605	DAG1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	11041	B4GAT1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	10585	POMT1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	84197	POMK	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	2218	FKTN	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	55624	POMGNT1	ORPHA:899
HP:0001832	Abnormal metatarsal morphology	5728	PTEN	ORPHA:744
HP:0001832	Abnormal metatarsal morphology	207	AKT1	ORPHA:744
HP:0001832	Abnormal metatarsal morphology	8260	NAA10	OMIM:300855
HP:0001832	Abnormal metatarsal morphology	1280	COL2A1	OMIM:271700
HP:0001832	Abnormal metatarsal morphology	1280	COL2A1	OMIM:609162
HP:0001832	Abnormal metatarsal morphology	1280	COL2A1	ORPHA:1856
HP:0001832	Abnormal metatarsal morphology	5573	PRKAR1A	ORPHA:950
HP:0001832	Abnormal metatarsal morphology	5573	PRKAR1A	ORPHA:280651
HP:0001832	Abnormal metatarsal morphology	5573	PRKAR1A	OMIM:101800
HP:0001832	Abnormal metatarsal morphology	64840	PORCN	OMIM:305600
HP:0001832	Abnormal metatarsal morphology	145173	B3GLCT	OMIM:261540
HP:0001832	Abnormal metatarsal morphology	6885	MAP3K7	OMIM:617137
HP:0001832	Abnormal metatarsal morphology	6885	MAP3K7	ORPHA:1826
HP:0001832	Abnormal metatarsal morphology	5593	PRKG2	OMIM:619636
HP:0001832	Abnormal metatarsal morphology	25839	COG4	OMIM:618150
HP:0001832	Abnormal metatarsal morphology	6299	SALL1	OMIM:107480
HP:0001832	Abnormal metatarsal morphology	5744	PTHLH	OMIM:613382
HP:0001832	Abnormal metatarsal morphology	5744	PTHLH	ORPHA:93387
HP:0001832	Abnormal metatarsal morphology	51098	IFT52	OMIM:617102
HP:0001832	Abnormal metatarsal morphology	3239	HOXD13	ORPHA:93387
HP:0001832	Abnormal metatarsal morphology	3239	HOXD13	OMIM:113300
HP:0001832	Abnormal metatarsal morphology	54808	DYM	OMIM:223800
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	OMIM:612463
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	OMIM:612462
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	ORPHA:79443
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	ORPHA:79444
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	ORPHA:79445
HP:0001832	Abnormal metatarsal morphology	2778	GNAS	OMIM:103580
HP:0001832	Abnormal metatarsal morphology	3759	KCNJ2	OMIM:170390
HP:0001832	Abnormal metatarsal morphology	22856	CHSY1	OMIM:605282
HP:0001832	Abnormal metatarsal morphology	2317	FLNB	OMIM:108720
HP:0001832	Abnormal metatarsal morphology	2317	FLNB	OMIM:150250
HP:0001832	Abnormal metatarsal morphology	157680	VPS13B	OMIM:216550
HP:0001832	Abnormal metatarsal morphology	6595	SMARCA2	OMIM:601358
HP:0001832	Abnormal metatarsal morphology	9742	IFT140	OMIM:266920
HP:0001832	Abnormal metatarsal morphology	6736	SRY	ORPHA:1772
HP:0001832	Abnormal metatarsal morphology	7227	TRPS1	OMIM:190350
HP:0001832	Abnormal metatarsal morphology	7227	TRPS1	OMIM:190351
HP:0001832	Abnormal metatarsal morphology	7227	TRPS1	ORPHA:77258
HP:0001832	Abnormal metatarsal morphology	90417	KNSTRN	OMIM:613328
HP:0001832	Abnormal metatarsal morphology	5293	PIK3CD	OMIM:613328
HP:0001832	Abnormal metatarsal morphology	25886	POC1A	OMIM:614813
HP:0001832	Abnormal metatarsal morphology	3516	RBPJ	OMIM:614814
HP:0001832	Abnormal metatarsal morphology	64327	LMBR1	OMIM:200500
HP:0001832	Abnormal metatarsal morphology	25923	ATL3	OMIM:615632
HP:0001832	Abnormal metatarsal morphology	51776	MAP3K20	ORPHA:488232
HP:0001838	Rocker bottom foot	2074	ERCC6	OMIM:214150
HP:0001838	Rocker bottom foot	23265	EXOC7	OMIM:619072
HP:0001838	Rocker bottom foot	55906	ZC4H2	OMIM:301041
HP:0001838	Rocker bottom foot	80347	COASY	OMIM:618266
HP:0001838	Rocker bottom foot	5447	POR	OMIM:201750
HP:0001838	Rocker bottom foot	5447	POR	ORPHA:95699
HP:0001838	Rocker bottom foot	5447	POR	OMIM:207410
HP:0001838	Rocker bottom foot	54809	SAMD9	OMIM:617053
HP:0001838	Rocker bottom foot	285489	DOK7	OMIM:618389
HP:0001838	Rocker bottom foot	8294	H4C9	OMIM:619951
HP:0001838	Rocker bottom foot	3236	HOXD10	OMIM:192950
HP:0001838	Rocker bottom foot	4593	MUSK	OMIM:208150
HP:0001838	Rocker bottom foot	10526	IPO8	OMIM:619472
HP:0001838	Rocker bottom foot	29895	MYL11	OMIM:619110
HP:0001838	Rocker bottom foot	6659	SOX4	OMIM:618506
HP:0001838	Rocker bottom foot	1861	TOR1A	OMIM:618947
HP:0001838	Rocker bottom foot	9820	CUL7	ORPHA:2616
HP:0001838	Rocker bottom foot	23363	OBSL1	ORPHA:2616
HP:0001838	Rocker bottom foot	83987	CCDC8	ORPHA:2616
HP:0001838	Rocker bottom foot	9894	TELO2	ORPHA:488642
HP:0001838	Rocker bottom foot	55627	SMPD4	OMIM:618622
HP:0001838	Rocker bottom foot	81031	SLC2A10	ORPHA:3342
HP:0001838	Rocker bottom foot	7486	WRN	ORPHA:902
HP:0001838	Rocker bottom foot	55593	OTUD5	OMIM:301056
HP:0001838	Rocker bottom foot	51611	DPH5	OMIM:620070
HP:0001838	Rocker bottom foot	55315	SLC29A3	OMIM:602782
HP:0001838	Rocker bottom foot	4927	NUP88	OMIM:618393
HP:0001838	Rocker bottom foot	4094	MAF	ORPHA:1272
HP:0001838	Rocker bottom foot	8314	BAP1	OMIM:619762
HP:0001838	Rocker bottom foot	2073	ERCC5	OMIM:616570
HP:0001838	Rocker bottom foot	10436	EMG1	ORPHA:1270
HP:0001838	Rocker bottom foot	10436	EMG1	OMIM:211180
HP:0001838	Rocker bottom foot	5649	RELN	ORPHA:89844
HP:0001838	Rocker bottom foot	10300	KATNB1	ORPHA:89844
HP:0001838	Rocker bottom foot	54820	NDE1	ORPHA:89844
HP:0001838	Rocker bottom foot	113179	ADAT3	ORPHA:363528
HP:0001838	Rocker bottom foot	9928	KIF14	OMIM:616258
HP:0001838	Rocker bottom foot	2263	FGFR2	OMIM:207410
HP:0001838	Rocker bottom foot	9373	PLAA	ORPHA:521426
HP:0001838	Rocker bottom foot	9373	PLAA	OMIM:617527
HP:0001838	Rocker bottom foot	16	AARS1	OMIM:616339
HP:0001838	Rocker bottom foot	57492	ARID1B	ORPHA:251056
HP:0001838	Rocker bottom foot	2068	ERCC2	OMIM:610756
HP:0001838	Rocker bottom foot	2316	FLNA	OMIM:304120
HP:0001838	Rocker bottom foot	2067	ERCC1	OMIM:610758
HP:0001838	Rocker bottom foot	5189	PEX1	OMIM:214100
HP:0001838	Rocker bottom foot	8241	RBM10	ORPHA:2886
HP:0001838	Rocker bottom foot	8241	RBM10	OMIM:311900
HP:0001838	Rocker bottom foot	7169	TPM2	OMIM:108120
HP:0001838	Rocker bottom foot	7169	TPM2	ORPHA:1146
HP:0001838	Rocker bottom foot	1146	CHRNG	OMIM:265000
HP:0001838	Rocker bottom foot	4621	MYH3	OMIM:193700
HP:0001838	Rocker bottom foot	4621	MYH3	ORPHA:1146
HP:0001838	Rocker bottom foot	8218	CLTCL1	ORPHA:453510
HP:0001838	Rocker bottom foot	89970	RSPRY1	ORPHA:457395
HP:0001838	Rocker bottom foot	2733	GLE1	OMIM:611890
HP:0001838	Rocker bottom foot	23511	NUP188	OMIM:618804
HP:0001838	Rocker bottom foot	7140	TNNT3	ORPHA:1146
HP:0001838	Rocker bottom foot	259232	NALCN	ORPHA:1146
HP:0001838	Rocker bottom foot	7136	TNNI2	ORPHA:1146
HP:0001838	Rocker bottom foot	7136	TNNI2	OMIM:601680
HP:0001838	Rocker bottom foot	4604	MYBPC1	ORPHA:1146
HP:0001838	Rocker bottom foot	4604	MYBPC1	OMIM:614335
HP:0001838	Rocker bottom foot	55681	SCYL2	ORPHA:1143
HP:0001838	Rocker bottom foot	55681	SCYL2	OMIM:618766
HP:0001838	Rocker bottom foot	84570	COL25A1	ORPHA:1143
HP:0001838	Rocker bottom foot	57222	ERGIC1	ORPHA:1143
HP:0001838	Rocker bottom foot	10269	ZMPSTE24	OMIM:275210
HP:0001838	Rocker bottom foot	91647	ATPAF2	OMIM:604273
HP:0001838	Rocker bottom foot	22827	PUF60	ORPHA:508488
HP:0001838	Rocker bottom foot	9896	FIG4	ORPHA:3472
HP:0001838	Rocker bottom foot	55697	VAC14	ORPHA:3472
HP:0001838	Rocker bottom foot	29968	PSAT1	OMIM:616038
HP:0001838	Rocker bottom foot	4233	MET	OMIM:620019
HP:0001838	Rocker bottom foot	54551	MAGEL2	OMIM:615547
HP:0001838	Rocker bottom foot	4000	LMNA	ORPHA:79474
HP:0001838	Rocker bottom foot	26227	PHGDH	OMIM:256520
HP:0001836	Camptodactyly of toe	1146	CHRNG	OMIM:265000
HP:0001836	Camptodactyly of toe	2316	FLNA	OMIM:300244
HP:0001836	Camptodactyly of toe	1832	DSP	ORPHA:158687
HP:0001836	Camptodactyly of toe	3728	JUP	ORPHA:158687
HP:0001836	Camptodactyly of toe	91179	SCARF2	OMIM:600920
HP:0001836	Camptodactyly of toe	63895	PIEZO2	OMIM:114300
HP:0001836	Camptodactyly of toe	29895	MYL11	OMIM:619110
HP:0001836	Camptodactyly of toe	2737	GLI3	OMIM:175700
HP:0001836	Camptodactyly of toe	2261	FGFR3	OMIM:610474
HP:0001836	Camptodactyly of toe	10216	PRG4	ORPHA:2848
HP:0001836	Camptodactyly of toe	84295	PHF6	ORPHA:127
HP:0001836	Camptodactyly of toe	2273	FHL1	OMIM:300280
HP:0001836	Camptodactyly of toe	4313	MMP2	OMIM:259600
HP:0001836	Camptodactyly of toe	54880	BCOR	OMIM:300166
HP:0001836	Camptodactyly of toe	10526	IPO8	OMIM:619472
HP:0001836	Camptodactyly of toe	5528	PPP2R5D	ORPHA:457279
HP:0001837	Broad toe	2737	GLI3	ORPHA:672
HP:0001837	Broad toe	4920	ROR2	OMIM:268310
HP:0001837	Broad toe	7750	ZMYM2	OMIM:619522
HP:0001837	Broad toe	9968	MED12	ORPHA:93932
HP:0001837	Broad toe	93627	TBCK	ORPHA:488632
HP:0001837	Broad toe	93627	TBCK	OMIM:616900
HP:0001837	Broad toe	3248	HPGD	ORPHA:217059
HP:0001837	Broad toe	2719	GPC3	OMIM:312870
HP:0001837	Broad toe	2239	GPC4	OMIM:312870
HP:0001837	Broad toe	5593	PRKG2	OMIM:619636
HP:0001837	Broad toe	55764	IFT122	OMIM:218330
HP:0001837	Broad toe	7474	WNT5A	OMIM:180700
HP:0001837	Broad toe	1855	DVL1	OMIM:180700
HP:0001837	Broad toe	10682	EBP	ORPHA:401973
HP:0001837	Broad toe	10682	EBP	OMIM:300960
HP:0001837	Broad toe	658	BMPR1B	OMIM:112600
HP:0001837	Broad toe	8200	GDF5	OMIM:112600
HP:0001837	Broad toe	650	BMP2	OMIM:112600
HP:0001837	Broad toe	22827	PUF60	ORPHA:508498
HP:0001837	Broad toe	1947	EFNB1	OMIM:304110
HP:0001837	Broad toe	8243	SMC1A	OMIM:301044
HP:0001837	Broad toe	23394	ADNP	ORPHA:404448
HP:0001837	Broad toe	23394	ADNP	OMIM:615873
HP:0001837	Broad toe	5518	PPP2R1A	OMIM:616362
HP:0001837	Broad toe	5518	PPP2R1A	ORPHA:457284
HP:0001837	Broad toe	10262	SF3B4	OMIM:154400
HP:0001837	Broad toe	6477	SIAH1	OMIM:619314
HP:0001837	Broad toe	3590	IL11RA	OMIM:614188
HP:0001837	Broad toe	26005	C2CD3	ORPHA:434179
HP:0001837	Broad toe	26005	C2CD3	OMIM:615948
HP:0001837	Broad toe	1387	CREBBP	OMIM:180849
HP:0001837	Broad toe	1387	CREBBP	ORPHA:353281
HP:0001837	Broad toe	1387	CREBBP	ORPHA:353277
HP:0001837	Broad toe	1387	CREBBP	OMIM:618332
HP:0001837	Broad toe	2033	EP300	OMIM:180849
HP:0001837	Broad toe	2033	EP300	ORPHA:353284
HP:0001837	Broad toe	2033	EP300	OMIM:613684
HP:0001837	Broad toe	10059	DNM1L	OMIM:614388
HP:0001837	Broad toe	2263	FGFR2	OMIM:149730
HP:0001837	Broad toe	2263	FGFR2	OMIM:123150
HP:0001837	Broad toe	2263	FGFR2	OMIM:101600
HP:0001837	Broad toe	23314	SATB2	ORPHA:251028
HP:0001837	Broad toe	2254	FGF9	OMIM:612961
HP:0001837	Broad toe	79005	SCNM1	OMIM:620107
HP:0001837	Broad toe	4329	ALDH6A1	OMIM:614105
HP:0001837	Broad toe	84720	PIGO	OMIM:614749
HP:0001837	Broad toe	80036	TRPM3	OMIM:620224
HP:0001837	Broad toe	8085	KMT2D	OMIM:620186
HP:0001837	Broad toe	285362	SUMF1	OMIM:272200
HP:0001837	Broad toe	10060	ABCC9	OMIM:239850
HP:0001837	Broad toe	9839	ZEB2	ORPHA:261537
HP:0001837	Broad toe	9839	ZEB2	ORPHA:261552
HP:0001837	Broad toe	10236	HNRNPR	OMIM:620073
HP:0001837	Broad toe	9241	NOG	OMIM:184460
HP:0001837	Broad toe	1457	CSNK2A1	OMIM:617062
HP:0001837	Broad toe	2316	FLNA	OMIM:300321
HP:0001837	Broad toe	2316	FLNA	OMIM:304120
HP:0001837	Broad toe	2316	FLNA	OMIM:311300
HP:0001837	Broad toe	3239	HOXD13	OMIM:186000
HP:0001837	Broad toe	54880	BCOR	OMIM:300166
HP:0001837	Broad toe	28952	CCDC22	OMIM:300963
HP:0001837	Broad toe	8239	USP9X	OMIM:300919
HP:0001837	Broad toe	7140	TNNT3	OMIM:618435
HP:0001837	Broad toe	4882	NPR2	OMIM:615923
HP:0001837	Broad toe	2260	FGFR1	OMIM:123150
HP:0001837	Broad toe	2260	FGFR1	OMIM:101600
HP:0001837	Broad toe	137814	NKX2-6	OMIM:217095
HP:0001837	Broad toe	1482	NKX2-5	OMIM:217095
HP:0001837	Broad toe	6899	TBX1	OMIM:217095
HP:0001837	Broad toe	2627	GATA6	OMIM:217095
HP:0001837	Broad toe	1749	DLX5	OMIM:183600
HP:0001837	Broad toe	50515	CHST11	OMIM:618167
HP:0001837	Broad toe	8260	NAA10	OMIM:300855
HP:0001837	Broad toe	8260	NAA10	ORPHA:276432
HP:0001837	Broad toe	2186	BPTF	OMIM:617755
HP:0001837	Broad toe	387	RHOA	OMIM:618727
HP:0001837	Broad toe	64359	NXN	OMIM:618529
HP:0001837	Broad toe	51594	NBAS	OMIM:614800
HP:0001837	Broad toe	29920	PYCR2	ORPHA:481152
HP:0001837	Broad toe	9757	KMT2B	OMIM:619934
HP:0001837	Broad toe	51057	WDPCP	OMIM:217085
HP:0001837	Broad toe	4750	NEK1	ORPHA:2751
HP:0001837	Broad toe	176	ACAN	OMIM:165800
HP:0001837	Broad toe	3756	KCNH1	OMIM:611816
HP:0001837	Broad toe	444	ASPH	OMIM:601552
HP:0001837	Broad toe	7319	UBE2A	OMIM:300860
HP:0001837	Broad toe	4212	MEIS2	OMIM:600987
HP:0001837	Broad toe	26040	SETBP1	OMIM:616078
HP:0001837	Broad toe	2261	FGFR3	OMIM:602849
HP:0001837	Broad toe	2702	GJA5	OMIM:612474
HP:0001837	Broad toe	2703	GJA8	OMIM:612474
HP:0001837	Broad toe	5144	PDE4D	ORPHA:439822
HP:0001837	Broad toe	57178	ZMIZ1	OMIM:618659
HP:0001837	Broad toe	9851	KIAA0753	OMIM:617127
HP:0001837	Broad toe	6878	TAF6	OMIM:617126
HP:0001837	Broad toe	3930	LBR	OMIM:618019
HP:0001837	Broad toe	7291	TWIST1	OMIM:180750
HP:0001837	Broad toe	1280	COL2A1	ORPHA:1856
HP:0001837	Broad toe	4038	LRP4	OMIM:212780
HP:0001837	Broad toe	9487	PIGL	OMIM:280000
HP:0001837	Broad toe	6595	SMARCA2	OMIM:601358
HP:0001842	Foot acroosteolysis	1281	COL3A1	OMIM:130050
HP:0001842	Foot acroosteolysis	6335	SCN9A	ORPHA:970
HP:0001842	Foot acroosteolysis	6335	SCN9A	OMIM:201300
HP:0001842	Foot acroosteolysis	65125	WNK1	ORPHA:970
HP:0001842	Foot acroosteolysis	65125	WNK1	OMIM:201300
HP:0001842	Foot acroosteolysis	54463	RETREG1	ORPHA:970
HP:0001842	Foot acroosteolysis	54463	RETREG1	OMIM:201300
HP:0001842	Foot acroosteolysis	547	KIF1A	ORPHA:970
HP:0001842	Foot acroosteolysis	547	KIF1A	OMIM:201300
HP:0001842	Foot acroosteolysis	4853	NOTCH2	OMIM:102500
HP:0001842	Foot acroosteolysis	4000	LMNA	ORPHA:280365
HP:0001842	Foot acroosteolysis	4000	LMNA	OMIM:248370
HP:0001842	Foot acroosteolysis	4000	LMNA	ORPHA:90153
HP:0001842	Foot acroosteolysis	10269	ZMPSTE24	OMIM:608612
HP:0001842	Foot acroosteolysis	10269	ZMPSTE24	ORPHA:90154
HP:0001842	Foot acroosteolysis	10651	MTX2	ORPHA:90153
HP:0001844	Abnormal hallux morphology	7528	YY1	ORPHA:506358
HP:0001844	Abnormal hallux morphology	7528	YY1	OMIM:617557
HP:0001844	Abnormal hallux morphology	8294	H4C9	OMIM:619951
HP:0001844	Abnormal hallux morphology	1859	DYRK1A	ORPHA:268261
HP:0001844	Abnormal hallux morphology	1859	DYRK1A	OMIM:614104
HP:0001844	Abnormal hallux morphology	25923	ATL3	OMIM:615632
HP:0001844	Abnormal hallux morphology	6938	TCF12	OMIM:615314
HP:0001844	Abnormal hallux morphology	6804	STX1A	ORPHA:904
HP:0001844	Abnormal hallux morphology	7461	CLIP2	ORPHA:904
HP:0001844	Abnormal hallux morphology	84277	DNAJC30	ORPHA:904
HP:0001844	Abnormal hallux morphology	8468	FKBP6	ORPHA:904
HP:0001844	Abnormal hallux morphology	5982	RFC2	ORPHA:904
HP:0001844	Abnormal hallux morphology	2969	GTF2I	ORPHA:904
HP:0001844	Abnormal hallux morphology	3984	LIMK1	ORPHA:904
HP:0001844	Abnormal hallux morphology	9569	GTF2IRD1	ORPHA:904
HP:0001844	Abnormal hallux morphology	155382	VPS37D	ORPHA:904
HP:0001844	Abnormal hallux morphology	155368	METTL27	ORPHA:904
HP:0001844	Abnormal hallux morphology	114049	BUD23	ORPHA:904
HP:0001844	Abnormal hallux morphology	7458	EIF4H	ORPHA:904
HP:0001844	Abnormal hallux morphology	84163	GTF2IRD2	ORPHA:904
HP:0001844	Abnormal hallux morphology	9275	BCL7B	ORPHA:904
HP:0001844	Abnormal hallux morphology	26608	TBL2	ORPHA:904
HP:0001844	Abnormal hallux morphology	653361	NCF1	ORPHA:904
HP:0001844	Abnormal hallux morphology	135886	TMEM270	ORPHA:904
HP:0001844	Abnormal hallux morphology	51085	MLXIPL	ORPHA:904
HP:0001844	Abnormal hallux morphology	51085	MLXIPL	OMIM:194050
HP:0001844	Abnormal hallux morphology	9031	BAZ1B	ORPHA:904
HP:0001844	Abnormal hallux morphology	2006	ELN	ORPHA:904
HP:0001844	Abnormal hallux morphology	2006	ELN	OMIM:194050
HP:0001844	Abnormal hallux morphology	57122	NUP107	OMIM:618348
HP:0001844	Abnormal hallux morphology	10283	CWC27	ORPHA:166035
HP:0001844	Abnormal hallux morphology	5728	PTEN	ORPHA:744
HP:0001844	Abnormal hallux morphology	207	AKT1	ORPHA:744
HP:0001844	Abnormal hallux morphology	55027	HEATR3	OMIM:620072
HP:0001844	Abnormal hallux morphology	55315	SLC29A3	OMIM:602782
HP:0001844	Abnormal hallux morphology	55315	SLC29A3	ORPHA:168569
HP:0001844	Abnormal hallux morphology	2077	ERF	OMIM:617180
HP:0001844	Abnormal hallux morphology	6567	SLC16A2	OMIM:300523
HP:0001844	Abnormal hallux morphology	4841	NONO	OMIM:300967
HP:0001844	Abnormal hallux morphology	4841	NONO	ORPHA:466791
HP:0001844	Abnormal hallux morphology	1278	COL1A2	ORPHA:230851
HP:0001844	Abnormal hallux morphology	1278	COL1A2	OMIM:617821
HP:0001844	Abnormal hallux morphology	56098	PCDHGC4	OMIM:619880
HP:0001844	Abnormal hallux morphology	83737	ITCH	OMIM:613385
HP:0001844	Abnormal hallux morphology	4621	MYH3	OMIM:618436
HP:0001844	Abnormal hallux morphology	6662	SOX9	OMIM:114290
HP:0001844	Abnormal hallux morphology	55780	ERMARD	ORPHA:75857
HP:0001844	Abnormal hallux morphology	2273	FHL1	OMIM:300280
HP:0001844	Abnormal hallux morphology	11107	PRDM5	ORPHA:90354
HP:0001844	Abnormal hallux morphology	84627	ZNF469	ORPHA:90354
HP:0001844	Abnormal hallux morphology	5932	RBBP8	OMIM:251255
HP:0001844	Abnormal hallux morphology	90	ACVR1	ORPHA:337
HP:0001844	Abnormal hallux morphology	90	ACVR1	OMIM:135100
HP:0001844	Abnormal hallux morphology	126792	B3GALT6	OMIM:271640
HP:0001844	Abnormal hallux morphology	126792	B3GALT6	ORPHA:536467
HP:0001844	Abnormal hallux morphology	8626	TP63	OMIM:603543
HP:0001844	Abnormal hallux morphology	4784	NFIX	OMIM:602535
HP:0001844	Abnormal hallux morphology	2629	GBA1	ORPHA:2072
HP:0001844	Abnormal hallux morphology	165	AEBP1	OMIM:618000
HP:0001844	Abnormal hallux morphology	165	AEBP1	ORPHA:536532
HP:0001844	Abnormal hallux morphology	7874	USP7	OMIM:616863
HP:0001844	Abnormal hallux morphology	9469	CHST3	OMIM:245600
HP:0001844	Abnormal hallux morphology	26229	B3GAT3	OMIM:245600
HP:0001844	Abnormal hallux morphology	6595	SMARCA2	OMIM:601358
HP:0001844	Abnormal hallux morphology	6792	CDKL5	ORPHA:505652
HP:0001844	Abnormal hallux morphology	1277	COL1A1	OMIM:130060
HP:0001844	Abnormal hallux morphology	23102	TBC1D2B	ORPHA:397973
HP:0001844	Abnormal hallux morphology	80185	TTI2	OMIM:615541
HP:0001844	Abnormal hallux morphology	6736	SRY	ORPHA:1772
HP:0001844	Abnormal hallux morphology	526	ATP6V1B2	ORPHA:3473
HP:0001844	Abnormal hallux morphology	5696	PSMB8	OMIM:256040
HP:0001844	Abnormal hallux morphology	26160	IFT172	OMIM:619471
HP:0001844	Abnormal hallux morphology	65250	CPLANE1	OMIM:277170
HP:0001844	Abnormal hallux morphology	6608	SMO	OMIM:601707
HP:0001844	Abnormal hallux morphology	374654	KIF7	OMIM:614120
HP:0001844	Abnormal hallux morphology	374654	KIF7	OMIM:200990
HP:0001844	Abnormal hallux morphology	64327	LMBR1	ORPHA:2378
HP:0001844	Abnormal hallux morphology	64327	LMBR1	OMIM:174500
HP:0001844	Abnormal hallux morphology	57688	ZSWIM6	ORPHA:1827
HP:0001844	Abnormal hallux morphology	57688	ZSWIM6	OMIM:603671
HP:0001844	Abnormal hallux morphology	5307	PITX1	OMIM:119800
HP:0001844	Abnormal hallux morphology	51715	RAB23	OMIM:201000
HP:0001844	Abnormal hallux morphology	51715	RAB23	ORPHA:65759
HP:0001844	Abnormal hallux morphology	1954	MEGF8	ORPHA:65759
HP:0001844	Abnormal hallux morphology	53834	FGFRL1	OMIM:194190
HP:0001844	Abnormal hallux morphology	1487	CTBP1	OMIM:194190
HP:0001844	Abnormal hallux morphology	3954	LETM1	OMIM:194190
HP:0001844	Abnormal hallux morphology	7468	NSD2	OMIM:194190
HP:0001844	Abnormal hallux morphology	10815	CPLX1	OMIM:194190
HP:0001844	Abnormal hallux morphology	51651	PTRH2	ORPHA:456312
HP:0001844	Abnormal hallux morphology	84265	POLR3GL	OMIM:619234
HP:0001844	Abnormal hallux morphology	10020	GNE	OMIM:269921
HP:0001844	Abnormal hallux morphology	10020	GNE	ORPHA:3166
HP:0001844	Abnormal hallux morphology	9158	FIBP	ORPHA:500095
HP:0001844	Abnormal hallux morphology	9158	FIBP	OMIM:617107
HP:0001844	Abnormal hallux morphology	579	NKX3-2	OMIM:613330
HP:0001844	Abnormal hallux morphology	6611	SMS	OMIM:309583
HP:0001844	Abnormal hallux morphology	6660	SOX5	OMIM:616803
HP:0001844	Abnormal hallux morphology	2770	GNAI1	OMIM:619854
HP:0001844	Abnormal hallux morphology	8813	DPM1	ORPHA:79322
HP:0001844	Abnormal hallux morphology	5745	PTH1R	OMIM:600002
HP:0001844	Abnormal hallux morphology	79759	ZNF668	OMIM:620194
HP:0001844	Abnormal hallux morphology	4883	NPR3	OMIM:619543
HP:0001844	Abnormal hallux morphology	91179	SCARF2	OMIM:600920
HP:0001844	Abnormal hallux morphology	23522	KAT6B	OMIM:603736
HP:0001844	Abnormal hallux morphology	5573	PRKAR1A	OMIM:101800
HP:0001844	Abnormal hallux morphology	3782	KCNN3	OMIM:618658
HP:0001844	Abnormal hallux morphology	2313	FLI1	ORPHA:2308
HP:0001844	Abnormal hallux morphology	4297	KMT2A	OMIM:605130
HP:0001844	Abnormal hallux morphology	56975	FAM20C	OMIM:259775
HP:0001844	Abnormal hallux morphology	2643	GCH1	ORPHA:98808
HP:0001844	Abnormal hallux morphology	4929	NR4A2	ORPHA:98808
HP:0001844	Abnormal hallux morphology	3615	IMPDH2	ORPHA:98808
HP:0001844	Abnormal hallux morphology	3315	HSPB1	OMIM:608634
HP:0001844	Abnormal hallux morphology	26353	HSPB8	OMIM:158590
HP:0001844	Abnormal hallux morphology	9927	MFN2	ORPHA:99947
HP:0001844	Abnormal hallux morphology	3209	HOXA13	OMIM:140000
HP:0001844	Abnormal hallux morphology	3209	HOXA13	ORPHA:2438
HP:0001844	Abnormal hallux morphology	9896	FIG4	OMIM:216340
HP:0001844	Abnormal hallux morphology	727857	BHLHA9	ORPHA:157801
HP:0001844	Abnormal hallux morphology	727857	BHLHA9	OMIM:609432
HP:0001844	Abnormal hallux morphology	1387	CREBBP	ORPHA:353277
HP:0001844	Abnormal hallux morphology	7994	KAT6A	OMIM:616268
HP:0001844	Abnormal hallux morphology	2033	EP300	ORPHA:353284
HP:0001844	Abnormal hallux morphology	26005	C2CD3	ORPHA:434179
HP:0001844	Abnormal hallux morphology	10682	EBP	ORPHA:401973
HP:0001844	Abnormal hallux morphology	10682	EBP	OMIM:300960
HP:0001844	Abnormal hallux morphology	658	BMPR1B	OMIM:112600
HP:0001844	Abnormal hallux morphology	8200	GDF5	OMIM:112600
HP:0001844	Abnormal hallux morphology	650	BMP2	OMIM:112600
HP:0001844	Abnormal hallux morphology	22827	PUF60	ORPHA:508498
HP:0001844	Abnormal hallux morphology	1947	EFNB1	OMIM:304110
HP:0001844	Abnormal hallux morphology	8243	SMC1A	OMIM:301044
HP:0001844	Abnormal hallux morphology	23394	ADNP	ORPHA:404448
HP:0001844	Abnormal hallux morphology	23394	ADNP	OMIM:615873
HP:0001844	Abnormal hallux morphology	5518	PPP2R1A	OMIM:616362
HP:0001844	Abnormal hallux morphology	5518	PPP2R1A	ORPHA:457284
HP:0001844	Abnormal hallux morphology	10262	SF3B4	OMIM:154400
HP:0001844	Abnormal hallux morphology	6477	SIAH1	OMIM:619314
HP:0001844	Abnormal hallux morphology	3590	IL11RA	OMIM:614188
HP:0001844	Abnormal hallux morphology	2737	GLI3	OMIM:175700
HP:0001844	Abnormal hallux morphology	10059	DNM1L	OMIM:614388
HP:0001844	Abnormal hallux morphology	2263	FGFR2	OMIM:149730
HP:0001844	Abnormal hallux morphology	2263	FGFR2	OMIM:123150
HP:0001844	Abnormal hallux morphology	2263	FGFR2	OMIM:101600
HP:0001844	Abnormal hallux morphology	23314	SATB2	ORPHA:251028
HP:0001844	Abnormal hallux morphology	2254	FGF9	OMIM:612961
HP:0001844	Abnormal hallux morphology	79005	SCNM1	OMIM:620107
HP:0001844	Abnormal hallux morphology	4329	ALDH6A1	OMIM:614105
HP:0001844	Abnormal hallux morphology	84720	PIGO	OMIM:614749
HP:0001844	Abnormal hallux morphology	80036	TRPM3	OMIM:620224
HP:0001844	Abnormal hallux morphology	8085	KMT2D	OMIM:620186
HP:0001844	Abnormal hallux morphology	285362	SUMF1	OMIM:272200
HP:0001844	Abnormal hallux morphology	10060	ABCC9	OMIM:239850
HP:0001844	Abnormal hallux morphology	9839	ZEB2	ORPHA:261537
HP:0001844	Abnormal hallux morphology	9839	ZEB2	ORPHA:261552
HP:0001844	Abnormal hallux morphology	10236	HNRNPR	OMIM:620073
HP:0001844	Abnormal hallux morphology	9241	NOG	OMIM:184460
HP:0001844	Abnormal hallux morphology	1457	CSNK2A1	OMIM:617062
HP:0001844	Abnormal hallux morphology	2316	FLNA	OMIM:300321
HP:0001844	Abnormal hallux morphology	2316	FLNA	OMIM:304120
HP:0001844	Abnormal hallux morphology	2316	FLNA	OMIM:311300
HP:0001844	Abnormal hallux morphology	3239	HOXD13	OMIM:186000
HP:0001844	Abnormal hallux morphology	54880	BCOR	OMIM:300166
HP:0001844	Abnormal hallux morphology	28952	CCDC22	OMIM:300963
HP:0001844	Abnormal hallux morphology	8239	USP9X	OMIM:300919
HP:0001844	Abnormal hallux morphology	7140	TNNT3	OMIM:618435
HP:0001844	Abnormal hallux morphology	4882	NPR2	OMIM:615923
HP:0001844	Abnormal hallux morphology	2260	FGFR1	OMIM:123150
HP:0001844	Abnormal hallux morphology	2260	FGFR1	OMIM:101600
HP:0001844	Abnormal hallux morphology	9968	MED12	OMIM:305450
HP:0001844	Abnormal hallux morphology	137814	NKX2-6	OMIM:217095
HP:0001844	Abnormal hallux morphology	1482	NKX2-5	OMIM:217095
HP:0001844	Abnormal hallux morphology	6899	TBX1	OMIM:217095
HP:0001844	Abnormal hallux morphology	2627	GATA6	OMIM:217095
HP:0001844	Abnormal hallux morphology	1749	DLX5	OMIM:183600
HP:0001844	Abnormal hallux morphology	2239	GPC4	OMIM:301026
HP:0001844	Abnormal hallux morphology	50515	CHST11	OMIM:618167
HP:0001844	Abnormal hallux morphology	8260	NAA10	OMIM:300855
HP:0001844	Abnormal hallux morphology	8260	NAA10	ORPHA:276432
HP:0001844	Abnormal hallux morphology	2186	BPTF	OMIM:617755
HP:0001844	Abnormal hallux morphology	387	RHOA	OMIM:618727
HP:0001844	Abnormal hallux morphology	64359	NXN	OMIM:618529
HP:0001844	Abnormal hallux morphology	51594	NBAS	OMIM:614800
HP:0001844	Abnormal hallux morphology	29920	PYCR2	ORPHA:481152
HP:0001844	Abnormal hallux morphology	9757	KMT2B	OMIM:619934
HP:0001844	Abnormal hallux morphology	51057	WDPCP	OMIM:217085
HP:0001844	Abnormal hallux morphology	4750	NEK1	ORPHA:2751
HP:0001844	Abnormal hallux morphology	176	ACAN	OMIM:165800
HP:0001844	Abnormal hallux morphology	3756	KCNH1	OMIM:611816
HP:0001844	Abnormal hallux morphology	444	ASPH	OMIM:601552
HP:0001844	Abnormal hallux morphology	7319	UBE2A	OMIM:300860
HP:0001844	Abnormal hallux morphology	4212	MEIS2	OMIM:600987
HP:0001844	Abnormal hallux morphology	26040	SETBP1	OMIM:616078
HP:0001844	Abnormal hallux morphology	2261	FGFR3	OMIM:602849
HP:0001844	Abnormal hallux morphology	2702	GJA5	OMIM:612474
HP:0001844	Abnormal hallux morphology	2703	GJA8	OMIM:612474
HP:0001844	Abnormal hallux morphology	5144	PDE4D	ORPHA:439822
HP:0001844	Abnormal hallux morphology	57178	ZMIZ1	OMIM:618659
HP:0001844	Abnormal hallux morphology	9851	KIAA0753	OMIM:617127
HP:0001844	Abnormal hallux morphology	6878	TAF6	OMIM:617126
HP:0001844	Abnormal hallux morphology	3930	LBR	OMIM:618019
HP:0001844	Abnormal hallux morphology	7291	TWIST1	OMIM:180750
HP:0001844	Abnormal hallux morphology	1280	COL2A1	ORPHA:1856
HP:0001844	Abnormal hallux morphology	4038	LRP4	OMIM:212780
HP:0001844	Abnormal hallux morphology	10664	CTCF	ORPHA:363611
HP:0001844	Abnormal hallux morphology	4920	ROR2	ORPHA:1507
HP:0001844	Abnormal hallux morphology	2626	GATA4	ORPHA:251071
HP:0001844	Abnormal hallux morphology	6299	SALL1	ORPHA:857
HP:0001844	Abnormal hallux morphology	51339	DACT1	ORPHA:857
HP:0001844	Abnormal hallux morphology	60	ACTB	OMIM:243310
HP:0001844	Abnormal hallux morphology	219844	HYLS1	OMIM:236680
HP:0001844	Abnormal hallux morphology	51776	MAP3K20	ORPHA:488232
HP:0001844	Abnormal hallux morphology	5744	PTHLH	ORPHA:93387
HP:0001844	Abnormal hallux morphology	10716	TBR1	ORPHA:1617
HP:0001844	Abnormal hallux morphology	124583	CANT1	OMIM:251450
HP:0001844	Abnormal hallux morphology	55697	VAC14	ORPHA:3472
HP:0001844	Abnormal hallux morphology	4256	MGP	OMIM:245150
HP:0001844	Abnormal hallux morphology	22856	CHSY1	ORPHA:363417
HP:0001844	Abnormal hallux morphology	2697	GJA1	ORPHA:2710
HP:0001844	Abnormal hallux morphology	54872	PIGG	ORPHA:280
HP:0001844	Abnormal hallux morphology	7469	NELFA	ORPHA:280
HP:0001844	Abnormal hallux morphology	9775	EIF4A3	OMIM:268305
HP:0001844	Abnormal hallux morphology	57167	SALL4	ORPHA:959
HP:0001844	Abnormal hallux morphology	3764	KCNJ8	ORPHA:1517
HP:0001844	Abnormal hallux morphology	3549	IHH	ORPHA:93388
HP:0001844	Abnormal hallux morphology	55764	IFT122	OMIM:218330
HP:0001845	Overlapping toe	64132	XYLT2	OMIM:605822
HP:0001845	Overlapping toe	10682	EBP	ORPHA:401973
HP:0001845	Overlapping toe	10682	EBP	OMIM:300960
HP:0001845	Overlapping toe	2737	GLI3	ORPHA:672
HP:0001845	Overlapping toe	22827	PUF60	ORPHA:508498
HP:0001845	Overlapping toe	10262	SF3B4	OMIM:154400
HP:0001845	Overlapping toe	57003	CCDC47	OMIM:618268
HP:0001845	Overlapping toe	63895	PIEZO2	OMIM:114300
HP:0001845	Overlapping toe	348180	CTU2	OMIM:618142
HP:0001845	Overlapping toe	91754	NEK9	OMIM:614262
HP:0001845	Overlapping toe	2132	EXT2	OMIM:616682
HP:0001845	Overlapping toe	2132	EXT2	ORPHA:466926
HP:0001845	Overlapping toe	51633	OTUD6B	OMIM:617452
HP:0001845	Overlapping toe	51633	OTUD6B	ORPHA:505237
HP:0001845	Overlapping toe	10815	CPLX1	OMIM:617976
HP:0001845	Overlapping toe	392255	GDF6	OMIM:617898
HP:0001845	Overlapping toe	25782	RAB3GAP2	OMIM:614225
HP:0001845	Overlapping toe	998	CDC42	ORPHA:487796
HP:0001845	Overlapping toe	998	CDC42	OMIM:616737
HP:0001845	Overlapping toe	6660	SOX5	OMIM:616803
HP:0001845	Overlapping toe	8239	USP9X	ORPHA:480880
HP:0001845	Overlapping toe	9894	TELO2	ORPHA:488642
HP:0001845	Overlapping toe	55628	ZNF407	OMIM:619557
HP:0001845	Overlapping toe	89970	RSPRY1	OMIM:616723
HP:0001845	Overlapping toe	89970	RSPRY1	ORPHA:457395
HP:0001845	Overlapping toe	54499	TMCO1	OMIM:213980
HP:0001845	Overlapping toe	118987	PDZD8	OMIM:620021
HP:0001845	Overlapping toe	79228	THOC6	ORPHA:363444
HP:0001845	Overlapping toe	4089	SMAD4	OMIM:139210
HP:0001845	Overlapping toe	6647	SOD1	OMIM:618598
HP:0001845	Overlapping toe	170302	ARX	OMIM:300004
HP:0001845	Overlapping toe	388015	RTL1	ORPHA:254528
HP:0001845	Overlapping toe	8788	DLK1	ORPHA:254528
HP:0001845	Overlapping toe	55384	MEG3	ORPHA:254528
HP:0001845	Overlapping toe	5594	MAPK1	OMIM:619087
HP:0001845	Overlapping toe	6536	SLC6A9	OMIM:617301
HP:0001845	Overlapping toe	28952	CCDC22	OMIM:300963
HP:0001845	Overlapping toe	84162	BLTP1	OMIM:617822
HP:0001845	Overlapping toe	2263	FGFR2	OMIM:123790
HP:0001845	Overlapping toe	9772	TMEM94	OMIM:618316
HP:0001845	Overlapping toe	6925	TCF4	OMIM:610954
HP:0001845	Overlapping toe	55343	SLC35C1	ORPHA:99843
HP:0001845	Overlapping toe	7169	TPM2	OMIM:108120
HP:0001845	Overlapping toe	50515	CHST11	OMIM:618167
HP:0001845	Overlapping toe	3190	HNRNPK	OMIM:616580
HP:0001845	Overlapping toe	22930	RAB3GAP1	OMIM:600118
HP:0001845	Overlapping toe	22930	RAB3GAP1	OMIM:619420
HP:0001845	Overlapping toe	9968	MED12	OMIM:300895
HP:0001845	Overlapping toe	2186	BPTF	OMIM:617755
HP:0001845	Overlapping toe	54916	TMEM260	OMIM:617478
HP:0001845	Overlapping toe	81857	MED25	ORPHA:464738
HP:0001845	Overlapping toe	2146	EZH2	OMIM:277590
HP:0001845	Overlapping toe	1717	DHCR7	OMIM:270400
HP:0001845	Overlapping toe	7703	PCGF2	OMIM:618371
HP:0001845	Overlapping toe	129285	PPP1R21	OMIM:619383
HP:0001845	Overlapping toe	171023	ASXL1	OMIM:605039
HP:0001845	Overlapping toe	1387	CREBBP	OMIM:618332
HP:0001845	Overlapping toe	26100	WIPI2	OMIM:618453
HP:0001845	Overlapping toe	2033	EP300	OMIM:618333
HP:0001845	Overlapping toe	1656	DDX6	OMIM:618653
HP:0001845	Overlapping toe	26173	INTS1	OMIM:618571
HP:0001845	Overlapping toe	1822	ATN1	OMIM:618494
HP:0001845	Overlapping toe	55656	INTS8	OMIM:618572
HP:0001845	Overlapping toe	2702	GJA5	OMIM:612474
HP:0001845	Overlapping toe	2703	GJA8	OMIM:612474
HP:0001845	Overlapping toe	529	ATP6V1E1	OMIM:617402
HP:0001845	Overlapping toe	84148	KAT8	OMIM:618974
HP:0001845	Overlapping toe	4654	MYOD1	OMIM:618975
HP:0001845	Overlapping toe	7319	UBE2A	ORPHA:163956
HP:0001845	Overlapping toe	25942	SIN3A	OMIM:613406
HP:0001845	Overlapping toe	6638	SNRPN	ORPHA:177907
HP:0001845	Overlapping toe	9230	RAB11B	OMIM:617807
HP:0001845	Overlapping toe	26040	SETBP1	ORPHA:798
HP:0001845	Overlapping toe	10075	HUWE1	OMIM:309590
HP:0001847	Long hallux	4882	NPR2	OMIM:602875
HP:0001847	Long hallux	4882	NPR2	OMIM:615923
HP:0001847	Long hallux	84265	POLR3GL	OMIM:619234
HP:0001847	Long hallux	10020	GNE	OMIM:269921
HP:0001847	Long hallux	10020	GNE	ORPHA:3166
HP:0001847	Long hallux	9158	FIBP	ORPHA:500095
HP:0001847	Long hallux	9158	FIBP	OMIM:617107
HP:0001847	Long hallux	579	NKX3-2	OMIM:613330
HP:0001847	Long hallux	6611	SMS	OMIM:309583
HP:0001847	Long hallux	6660	SOX5	OMIM:616803
HP:0001847	Long hallux	2770	GNAI1	OMIM:619854
HP:0001847	Long hallux	8813	DPM1	ORPHA:79322
HP:0001847	Long hallux	3756	KCNH1	OMIM:611816
HP:0001847	Long hallux	3756	KCNH1	ORPHA:420561
HP:0001847	Long hallux	5745	PTH1R	OMIM:600002
HP:0001847	Long hallux	9839	ZEB2	ORPHA:261537
HP:0001847	Long hallux	9839	ZEB2	ORPHA:261552
HP:0001847	Long hallux	79759	ZNF668	OMIM:620194
HP:0001847	Long hallux	4883	NPR3	OMIM:619543
HP:0001847	Long hallux	91179	SCARF2	OMIM:600920
HP:0001847	Long hallux	23522	KAT6B	OMIM:603736
HP:0001847	Long hallux	5573	PRKAR1A	OMIM:101800
HP:0001847	Long hallux	3782	KCNN3	OMIM:618658
HP:0001847	Long hallux	2313	FLI1	ORPHA:2308
HP:0001847	Long hallux	4297	KMT2A	OMIM:605130
HP:0001847	Long hallux	56975	FAM20C	OMIM:259775
HP:0001850	Abnormality of the tarsal bones	2036	EPB41L1	OMIM:614257
HP:0001850	Abnormality of the tarsal bones	2074	ERCC6	OMIM:214150
HP:0001850	Abnormality of the tarsal bones	23265	EXOC7	OMIM:619072
HP:0001850	Abnormality of the tarsal bones	55906	ZC4H2	OMIM:301041
HP:0001850	Abnormality of the tarsal bones	80347	COASY	OMIM:618266
HP:0001850	Abnormality of the tarsal bones	5447	POR	OMIM:201750
HP:0001850	Abnormality of the tarsal bones	5447	POR	ORPHA:95699
HP:0001850	Abnormality of the tarsal bones	5447	POR	OMIM:207410
HP:0001850	Abnormality of the tarsal bones	54809	SAMD9	OMIM:617053
HP:0001850	Abnormality of the tarsal bones	285489	DOK7	OMIM:618389
HP:0001850	Abnormality of the tarsal bones	8294	H4C9	OMIM:619951
HP:0001850	Abnormality of the tarsal bones	4593	MUSK	OMIM:208150
HP:0001850	Abnormality of the tarsal bones	10526	IPO8	OMIM:619472
HP:0001850	Abnormality of the tarsal bones	29895	MYL11	OMIM:619110
HP:0001850	Abnormality of the tarsal bones	6659	SOX4	OMIM:618506
HP:0001850	Abnormality of the tarsal bones	1861	TOR1A	OMIM:618947
HP:0001850	Abnormality of the tarsal bones	9820	CUL7	ORPHA:2616
HP:0001850	Abnormality of the tarsal bones	9894	TELO2	ORPHA:488642
HP:0001850	Abnormality of the tarsal bones	55627	SMPD4	OMIM:618622
HP:0001850	Abnormality of the tarsal bones	81031	SLC2A10	ORPHA:3342
HP:0001850	Abnormality of the tarsal bones	7486	WRN	ORPHA:902
HP:0001850	Abnormality of the tarsal bones	55593	OTUD5	OMIM:301056
HP:0001850	Abnormality of the tarsal bones	51611	DPH5	OMIM:620070
HP:0001850	Abnormality of the tarsal bones	55315	SLC29A3	OMIM:602782
HP:0001850	Abnormality of the tarsal bones	4927	NUP88	OMIM:618393
HP:0001850	Abnormality of the tarsal bones	4094	MAF	ORPHA:1272
HP:0001850	Abnormality of the tarsal bones	8314	BAP1	OMIM:619762
HP:0001850	Abnormality of the tarsal bones	2073	ERCC5	OMIM:616570
HP:0001850	Abnormality of the tarsal bones	10436	EMG1	ORPHA:1270
HP:0001850	Abnormality of the tarsal bones	10436	EMG1	OMIM:211180
HP:0001850	Abnormality of the tarsal bones	5649	RELN	ORPHA:89844
HP:0001850	Abnormality of the tarsal bones	10300	KATNB1	ORPHA:89844
HP:0001850	Abnormality of the tarsal bones	54820	NDE1	ORPHA:89844
HP:0001850	Abnormality of the tarsal bones	113179	ADAT3	ORPHA:363528
HP:0001850	Abnormality of the tarsal bones	9928	KIF14	OMIM:616258
HP:0001850	Abnormality of the tarsal bones	2263	FGFR2	OMIM:207410
HP:0001850	Abnormality of the tarsal bones	9373	PLAA	ORPHA:521426
HP:0001850	Abnormality of the tarsal bones	9373	PLAA	OMIM:617527
HP:0001850	Abnormality of the tarsal bones	16	AARS1	OMIM:616339
HP:0001850	Abnormality of the tarsal bones	57492	ARID1B	ORPHA:251056
HP:0001850	Abnormality of the tarsal bones	2068	ERCC2	OMIM:610756
HP:0001850	Abnormality of the tarsal bones	2067	ERCC1	OMIM:610758
HP:0001850	Abnormality of the tarsal bones	5189	PEX1	OMIM:214100
HP:0001850	Abnormality of the tarsal bones	8241	RBM10	ORPHA:2886
HP:0001850	Abnormality of the tarsal bones	8241	RBM10	OMIM:311900
HP:0001850	Abnormality of the tarsal bones	1146	CHRNG	OMIM:265000
HP:0001850	Abnormality of the tarsal bones	4621	MYH3	OMIM:193700
HP:0001850	Abnormality of the tarsal bones	4621	MYH3	ORPHA:1146
HP:0001850	Abnormality of the tarsal bones	8218	CLTCL1	ORPHA:453510
HP:0001850	Abnormality of the tarsal bones	2733	GLE1	OMIM:611890
HP:0001850	Abnormality of the tarsal bones	23511	NUP188	OMIM:618804
HP:0001850	Abnormality of the tarsal bones	7140	TNNT3	ORPHA:1146
HP:0001850	Abnormality of the tarsal bones	4604	MYBPC1	ORPHA:1146
HP:0001850	Abnormality of the tarsal bones	4604	MYBPC1	OMIM:614335
HP:0001850	Abnormality of the tarsal bones	55681	SCYL2	ORPHA:1143
HP:0001850	Abnormality of the tarsal bones	55681	SCYL2	OMIM:618766
HP:0001850	Abnormality of the tarsal bones	84570	COL25A1	ORPHA:1143
HP:0001850	Abnormality of the tarsal bones	57222	ERGIC1	ORPHA:1143
HP:0001850	Abnormality of the tarsal bones	10269	ZMPSTE24	OMIM:275210
HP:0001850	Abnormality of the tarsal bones	91647	ATPAF2	OMIM:604273
HP:0001850	Abnormality of the tarsal bones	22827	PUF60	ORPHA:508488
HP:0001850	Abnormality of the tarsal bones	9896	FIG4	ORPHA:3472
HP:0001850	Abnormality of the tarsal bones	55697	VAC14	ORPHA:3472
HP:0001850	Abnormality of the tarsal bones	29968	PSAT1	OMIM:616038
HP:0001850	Abnormality of the tarsal bones	54551	MAGEL2	OMIM:615547
HP:0001850	Abnormality of the tarsal bones	4000	LMNA	ORPHA:79474
HP:0001850	Abnormality of the tarsal bones	7169	TPM2	OMIM:108120
HP:0001850	Abnormality of the tarsal bones	9839	ZEB2	ORPHA:261537
HP:0001850	Abnormality of the tarsal bones	9839	ZEB2	ORPHA:261552
HP:0001850	Abnormality of the tarsal bones	284058	KANSL1	ORPHA:363965
HP:0001850	Abnormality of the tarsal bones	284058	KANSL1	ORPHA:363958
HP:0001850	Abnormality of the tarsal bones	1278	COL1A2	ORPHA:230851
HP:0001850	Abnormality of the tarsal bones	1278	COL1A2	OMIM:225320
HP:0001850	Abnormality of the tarsal bones	3236	HOXD10	OMIM:192950
HP:0001850	Abnormality of the tarsal bones	259232	NALCN	OMIM:616266
HP:0001850	Abnormality of the tarsal bones	9427	ECEL1	OMIM:615065
HP:0001850	Abnormality of the tarsal bones	92949	ADAMTSL1	ORPHA:521445
HP:0001850	Abnormality of the tarsal bones	2146	EZH2	OMIM:277590
HP:0001850	Abnormality of the tarsal bones	4233	MET	OMIM:620019
HP:0001850	Abnormality of the tarsal bones	7136	TNNI2	OMIM:601680
HP:0001850	Abnormality of the tarsal bones	10159	ATP6AP2	ORPHA:93952
HP:0001850	Abnormality of the tarsal bones	26227	PHGDH	OMIM:256520
HP:0001850	Abnormality of the tarsal bones	2131	EXT1	ORPHA:321
HP:0001850	Abnormality of the tarsal bones	2132	EXT2	ORPHA:321
HP:0001850	Abnormality of the tarsal bones	3239	HOXD13	OMIM:186000
HP:0001850	Abnormality of the tarsal bones	2316	FLNA	ORPHA:90650
HP:0001850	Abnormality of the tarsal bones	1302	COL11A2	OMIM:215150
HP:0001850	Abnormality of the tarsal bones	2879	GPX4	OMIM:250220
HP:0001850	Abnormality of the tarsal bones	9496	TBX4	OMIM:147891
HP:0001850	Abnormality of the tarsal bones	4313	MMP2	ORPHA:371428
HP:0001850	Abnormality of the tarsal bones	4313	MMP2	OMIM:259600
HP:0001850	Abnormality of the tarsal bones	4323	MMP14	ORPHA:371428
HP:0001850	Abnormality of the tarsal bones	4323	MMP14	OMIM:277950
HP:0001850	Abnormality of the tarsal bones	9935	MAFB	OMIM:166300
HP:0001850	Abnormality of the tarsal bones	5745	PTH1R	OMIM:600002
HP:0001850	Abnormality of the tarsal bones	3209	HOXA13	OMIM:140000
HP:0001850	Abnormality of the tarsal bones	4148	MATN3	OMIM:607078
HP:0001850	Abnormality of the tarsal bones	23169	SLC35D1	OMIM:269250
HP:0001850	Abnormality of the tarsal bones	23169	SLC35D1	ORPHA:3144
HP:0001850	Abnormality of the tarsal bones	3636	INPPL1	ORPHA:3144
HP:0001850	Abnormality of the tarsal bones	124583	CANT1	OMIM:251450
HP:0001850	Abnormality of the tarsal bones	5251	PHEX	OMIM:307800
HP:0001850	Abnormality of the tarsal bones	5251	PHEX	ORPHA:89936
HP:0001850	Abnormality of the tarsal bones	8200	GDF5	OMIM:228900
HP:0001850	Abnormality of the tarsal bones	2260	FGFR1	OMIM:123150
HP:0001850	Abnormality of the tarsal bones	2317	FLNB	OMIM:150250
HP:0001850	Abnormality of the tarsal bones	10682	EBP	OMIM:302960
HP:0001850	Abnormality of the tarsal bones	9451	EIF2AK3	OMIM:226980
HP:0001850	Abnormality of the tarsal bones	10804	GJB6	ORPHA:477
HP:0001850	Abnormality of the tarsal bones	2706	GJB2	ORPHA:477
HP:0001850	Abnormality of the tarsal bones	3032	HADHB	ORPHA:746
HP:0001850	Abnormality of the tarsal bones	3030	HADHA	ORPHA:746
HP:0001850	Abnormality of the tarsal bones	6857	SYT1	ORPHA:522077
HP:0001850	Abnormality of the tarsal bones	165	AEBP1	ORPHA:536532
HP:0001850	Abnormality of the tarsal bones	2200	FBN1	OMIM:154700
HP:0001850	Abnormality of the tarsal bones	1280	COL2A1	OMIM:183900
HP:0001850	Abnormality of the tarsal bones	7476	WNT7A	OMIM:276820
HP:0001850	Abnormality of the tarsal bones	22856	CHSY1	ORPHA:363417
HP:0001850	Abnormality of the tarsal bones	22856	CHSY1	OMIM:605282
HP:0001850	Abnormality of the tarsal bones	392255	GDF6	OMIM:617898
HP:0001850	Abnormality of the tarsal bones	658	BMPR1B	ORPHA:2098
HP:0001850	Abnormality of the tarsal bones	658	BMPR1B	ORPHA:2639
HP:0001850	Abnormality of the tarsal bones	658	BMPR1B	OMIM:609441
HP:0001850	Abnormality of the tarsal bones	2261	FGFR3	ORPHA:53271
HP:0001850	Abnormality of the tarsal bones	9241	NOG	ORPHA:3250
HP:0001850	Abnormality of the tarsal bones	9241	NOG	OMIM:186570
HP:0001850	Abnormality of the tarsal bones	9241	NOG	OMIM:611377
HP:0001850	Abnormality of the tarsal bones	9241	NOG	OMIM:186500
HP:0001850	Abnormality of the tarsal bones	9241	NOG	ORPHA:1412
HP:0001850	Abnormality of the tarsal bones	9241	NOG	OMIM:185800
HP:0001850	Abnormality of the tarsal bones	8195	MKKS	ORPHA:2473
HP:0001850	Abnormality of the tarsal bones	8481	OFD1	ORPHA:2750
HP:0001850	Abnormality of the tarsal bones	64093	SMOC1	ORPHA:1106
HP:0001850	Abnormality of the tarsal bones	538	ATP7A	ORPHA:565
HP:0001850	Abnormality of the tarsal bones	6885	MAP3K7	OMIM:157800
HP:0001850	Abnormality of the tarsal bones	2192	FBLN1	OMIM:608180
HP:0001850	Abnormality of the tarsal bones	2737	GLI3	ORPHA:93322
HP:0001850	Abnormality of the tarsal bones	64327	LMBR1	OMIM:200500
HP:0001850	Abnormality of the tarsal bones	89970	RSPRY1	ORPHA:457395
HP:0001850	Abnormality of the tarsal bones	54808	DYM	OMIM:223800
HP:0001850	Abnormality of the tarsal bones	23314	SATB2	ORPHA:251028
HP:0001850	Abnormality of the tarsal bones	83987	CCDC8	OMIM:614205
HP:0001850	Abnormality of the tarsal bones	84340	GFM2	ORPHA:565624
HP:0001850	Abnormality of the tarsal bones	23363	OBSL1	OMIM:612921
HP:0001850	Abnormality of the tarsal bones	388015	RTL1	ORPHA:96334
HP:0001850	Abnormality of the tarsal bones	8788	DLK1	ORPHA:96334
HP:0001850	Abnormality of the tarsal bones	55384	MEG3	ORPHA:96334
HP:0001850	Abnormality of the tarsal bones	83452	RAB33B	OMIM:615222
HP:0001850	Abnormality of the tarsal bones	3930	LBR	OMIM:215140
HP:0001850	Abnormality of the tarsal bones	10013	HDAC6	OMIM:300863
HP:0001850	Abnormality of the tarsal bones	23592	LEMD3	ORPHA:166119
HP:0001850	Abnormality of the tarsal bones	55768	NGLY1	ORPHA:404454
HP:0001850	Abnormality of the tarsal bones	2019	EN1	OMIM:619218
HP:0001852	Sandal gap	5290	PIK3CA	OMIM:612918
HP:0001852	Sandal gap	7528	YY1	ORPHA:506358
HP:0001852	Sandal gap	7528	YY1	OMIM:617557
HP:0001852	Sandal gap	8450	CUL4B	OMIM:300354
HP:0001852	Sandal gap	8450	CUL4B	ORPHA:85293
HP:0001852	Sandal gap	23394	ADNP	ORPHA:404448
HP:0001852	Sandal gap	23394	ADNP	OMIM:615873
HP:0001852	Sandal gap	8294	H4C9	OMIM:619951
HP:0001852	Sandal gap	4683	NBN	OMIM:251260
HP:0001852	Sandal gap	8425	LTBP4	OMIM:613177
HP:0001852	Sandal gap	1947	EFNB1	ORPHA:1520
HP:0001852	Sandal gap	8924	HERC2	OMIM:615516
HP:0001852	Sandal gap	55777	MBD5	ORPHA:228402
HP:0001852	Sandal gap	55777	MBD5	OMIM:156200
HP:0001852	Sandal gap	57167	SALL4	OMIM:607323
HP:0001852	Sandal gap	57167	SALL4	ORPHA:959
HP:0001852	Sandal gap	6840	SVIL	OMIM:619040
HP:0001852	Sandal gap	1836	SLC26A2	ORPHA:56304
HP:0001852	Sandal gap	1836	SLC26A2	OMIM:256050
HP:0001852	Sandal gap	10743	RAI1	ORPHA:477817
HP:0001852	Sandal gap	1349	COX7B	OMIM:300887
HP:0001852	Sandal gap	1278	COL1A2	ORPHA:230851
HP:0001852	Sandal gap	613	BCR	ORPHA:261330
HP:0001852	Sandal gap	1399	CRKL	ORPHA:261330
HP:0001852	Sandal gap	5594	MAPK1	ORPHA:261330
HP:0001852	Sandal gap	2623	GATA1	OMIM:190685
HP:0001852	Sandal gap	55209	SETD5	OMIM:615761
HP:0001852	Sandal gap	63895	PIEZO2	OMIM:617146
HP:0001852	Sandal gap	23291	FBXW11	OMIM:618914
HP:0001852	Sandal gap	83479	DDX59	OMIM:174300
HP:0001852	Sandal gap	126792	B3GALT6	ORPHA:2725
HP:0001852	Sandal gap	22858	CILK1	OMIM:612651
HP:0001852	Sandal gap	28960	DCPS	OMIM:616459
HP:0001852	Sandal gap	2590	GALNT2	OMIM:618885
HP:0001852	Sandal gap	57492	ARID1B	OMIM:135900
HP:0001852	Sandal gap	8260	NAA10	OMIM:300855
HP:0001852	Sandal gap	80204	FBXO11	OMIM:618089
HP:0001852	Sandal gap	64359	NXN	OMIM:618529
HP:0001852	Sandal gap	64359	NXN	ORPHA:1507
HP:0001852	Sandal gap	4920	ROR2	ORPHA:1507
HP:0001852	Sandal gap	8289	ARID1A	OMIM:614607
HP:0001852	Sandal gap	2317	FLNB	OMIM:108721
HP:0001852	Sandal gap	64093	SMOC1	ORPHA:1106
HP:0001852	Sandal gap	64093	SMOC1	OMIM:206920
HP:0001852	Sandal gap	79087	ALG12	OMIM:607143
HP:0001852	Sandal gap	79087	ALG12	ORPHA:79324
HP:0001852	Sandal gap	9496	TBX4	ORPHA:261279
HP:0001852	Sandal gap	9496	TBX4	OMIM:147891
HP:0001852	Sandal gap	4212	MEIS2	OMIM:600987
HP:0001852	Sandal gap	26040	SETBP1	OMIM:616078
HP:0001852	Sandal gap	25	ABL1	OMIM:617602
HP:0001852	Sandal gap	545	ATR	OMIM:210600
HP:0001852	Sandal gap	545	ATR	ORPHA:808
HP:0001852	Sandal gap	6304	SATB1	OMIM:619229
HP:0001852	Sandal gap	165	AEBP1	ORPHA:536532
HP:0001852	Sandal gap	2316	FLNA	ORPHA:90650
HP:0001852	Sandal gap	2316	FLNA	OMIM:311300
HP:0001852	Sandal gap	3981	LIG4	ORPHA:235
HP:0001852	Sandal gap	54888	NSUN2	ORPHA:235
HP:0001852	Sandal gap	10664	CTCF	ORPHA:363611
HP:0001852	Sandal gap	157680	VPS13B	ORPHA:193
HP:0001852	Sandal gap	5593	PRKG2	OMIM:619636
HP:0001852	Sandal gap	157570	ESCO2	ORPHA:3103
HP:0001852	Sandal gap	55027	HEATR3	OMIM:620072
HP:0001852	Sandal gap	6595	SMARCA2	ORPHA:3051
HP:0001852	Sandal gap	6595	SMARCA2	OMIM:601358
HP:0001852	Sandal gap	7204	TRIO	OMIM:617061
HP:0001852	Sandal gap	54880	BCOR	OMIM:300166
HP:0001852	Sandal gap	10651	MTX2	OMIM:619127
HP:0001852	Sandal gap	51098	IFT52	OMIM:617102
HP:0001852	Sandal gap	6942	TCF20	OMIM:618430
HP:0001852	Sandal gap	7140	TNNT3	OMIM:618435
HP:0001852	Sandal gap	6605	SMARCE1	OMIM:616938
HP:0001852	Sandal gap	124583	CANT1	OMIM:251450
HP:0001852	Sandal gap	50515	CHST11	OMIM:618167
HP:0001852	Sandal gap	4123	MAN2C1	OMIM:619775
HP:0001852	Sandal gap	9320	TRIP12	OMIM:617752
HP:0001852	Sandal gap	6603	SMARCD2	OMIM:617475
HP:0001852	Sandal gap	650	BMP2	OMIM:617877
HP:0001852	Sandal gap	2186	BPTF	OMIM:617755
HP:0001852	Sandal gap	387	RHOA	OMIM:618727
HP:0001852	Sandal gap	7994	KAT6A	OMIM:616268
HP:0001852	Sandal gap	51594	NBAS	OMIM:614800
HP:0001852	Sandal gap	1062	CENPE	ORPHA:808
HP:0001852	Sandal gap	5116	PCNT	ORPHA:808
HP:0001852	Sandal gap	5932	RBBP8	ORPHA:808
HP:0001852	Sandal gap	79902	NUP85	ORPHA:808
HP:0001852	Sandal gap	84126	ATRIP	ORPHA:808
HP:0001852	Sandal gap	55835	CENPJ	ORPHA:808
HP:0001852	Sandal gap	10293	TRAIP	ORPHA:808
HP:0001852	Sandal gap	22995	CEP152	ORPHA:808
HP:0001852	Sandal gap	10733	PLK4	ORPHA:808
HP:0001852	Sandal gap	8813	DPM1	ORPHA:79322
HP:0001852	Sandal gap	1302	COL11A2	ORPHA:1427
HP:0001852	Sandal gap	64324	NSD1	ORPHA:3447
HP:0001852	Sandal gap	8726	EED	ORPHA:3447
HP:0001852	Sandal gap	23512	SUZ12	ORPHA:3447
HP:0001852	Sandal gap	2146	EZH2	ORPHA:3447
HP:0001852	Sandal gap	9469	CHST3	OMIM:245600
HP:0001852	Sandal gap	26229	B3GAT3	OMIM:245600
HP:0001852	Sandal gap	1832	DSP	OMIM:609638
HP:0001852	Sandal gap	1387	CREBBP	OMIM:618332
HP:0001852	Sandal gap	2033	EP300	OMIM:618333
HP:0001852	Sandal gap	112752	IFT43	OMIM:614099
HP:0001852	Sandal gap	51053	GMNN	OMIM:616835
HP:0001852	Sandal gap	55081	IFT57	OMIM:617927
HP:0001852	Sandal gap	3480	IGF1R	OMIM:270450
HP:0001854	Podagra	3251	HPRT1	OMIM:300322
HP:0001854	Podagra	3251	HPRT1	OMIM:300323
HP:0001857	Short distal phalanx of toe	5281	PIGF	OMIM:619356
HP:0001857	Short distal phalanx of toe	9241	NOG	ORPHA:140908
HP:0001857	Short distal phalanx of toe	415	ARSL	ORPHA:79345
HP:0001857	Short distal phalanx of toe	3756	KCNH1	OMIM:135500
HP:0001857	Short distal phalanx of toe	9896	FIG4	ORPHA:3472
HP:0001857	Short distal phalanx of toe	55697	VAC14	ORPHA:3472
HP:0001857	Short distal phalanx of toe	59341	TRPV4	ORPHA:85169
HP:0001863	Toe clinodactyly	2316	FLNA	OMIM:300244
HP:0001863	Toe clinodactyly	89970	RSPRY1	ORPHA:457395
HP:0001863	Toe clinodactyly	23314	SATB2	ORPHA:251019
HP:0001863	Toe clinodactyly	2146	EZH2	OMIM:277590
HP:0001863	Toe clinodactyly	490	ATP2B1	OMIM:619910
HP:0001863	Toe clinodactyly	64131	XYLT1	OMIM:615777
HP:0001863	Toe clinodactyly	6299	SALL1	ORPHA:857
HP:0001863	Toe clinodactyly	51339	DACT1	ORPHA:857
HP:0001863	Toe clinodactyly	2313	FLI1	ORPHA:2308
HP:0001863	Toe clinodactyly	10195	ALG3	OMIM:601110
HP:0001863	Toe clinodactyly	5283	PIGH	OMIM:618010
HP:0001863	Toe clinodactyly	6049	RNF6	ORPHA:99977
HP:0001863	Toe clinodactyly	7048	TGFBR2	ORPHA:99977
HP:0001863	Toe clinodactyly	51741	WWOX	ORPHA:99977
HP:0001863	Toe clinodactyly	9940	DLEC1	ORPHA:99977
HP:0001863	Toe clinodactyly	150468	CKAP2L	ORPHA:3255
HP:0001863	Toe clinodactyly	3759	KCNJ2	OMIM:170390
HP:0001863	Toe clinodactyly	3759	KCNJ2	ORPHA:37553
HP:0001863	Toe clinodactyly	3762	KCNJ5	ORPHA:37553
HP:0001863	Toe clinodactyly	10236	HNRNPR	OMIM:620073
HP:0001863	Toe clinodactyly	9241	NOG	OMIM:186500
HP:0001863	Toe clinodactyly	25782	RAB3GAP2	OMIM:614225
HP:0001863	Toe clinodactyly	118924	FRA10AC1	OMIM:620113
HP:0001863	Toe clinodactyly	84342	COG8	OMIM:611182
HP:0001863	Toe clinodactyly	341208	HEPHL1	OMIM:261990
HP:0001864	Clinodactyly of the 5th toe	10195	ALG3	OMIM:601110
HP:0001864	Clinodactyly of the 5th toe	6299	SALL1	OMIM:107480
HP:0001864	Clinodactyly of the 5th toe	5283	PIGH	OMIM:618010
HP:0001864	Clinodactyly of the 5th toe	341208	HEPHL1	OMIM:261990
HP:0001864	Clinodactyly of the 5th toe	25782	RAB3GAP2	OMIM:614225
HP:0001864	Clinodactyly of the 5th toe	6049	RNF6	ORPHA:99977
HP:0001864	Clinodactyly of the 5th toe	7048	TGFBR2	ORPHA:99977
HP:0001864	Clinodactyly of the 5th toe	51741	WWOX	ORPHA:99977
HP:0001864	Clinodactyly of the 5th toe	9940	DLEC1	ORPHA:99977
HP:0001864	Clinodactyly of the 5th toe	118924	FRA10AC1	OMIM:620113
HP:0001864	Clinodactyly of the 5th toe	150468	CKAP2L	ORPHA:3255
HP:0001864	Clinodactyly of the 5th toe	3759	KCNJ2	OMIM:170390
HP:0001864	Clinodactyly of the 5th toe	3759	KCNJ2	ORPHA:37553
HP:0001864	Clinodactyly of the 5th toe	3762	KCNJ5	ORPHA:37553
HP:0001868	Autoamputation of foot	7879	RAB7A	OMIM:600882
HP:0001868	Autoamputation of foot	10558	SPTLC1	OMIM:162400
HP:0001869	Deep plantar creases	79718	TBL1XR1	OMIM:602342
HP:0001869	Deep plantar creases	171023	ASXL1	OMIM:605039
HP:0001869	Deep plantar creases	3190	HNRNPK	OMIM:616580
HP:0001869	Deep plantar creases	5587	PRKD1	OMIM:617364
HP:0001869	Deep plantar creases	23545	ATP6V0A2	ORPHA:2834
HP:0001869	Deep plantar creases	23545	ATP6V0A2	OMIM:278250
HP:0001869	Deep plantar creases	2475	MTOR	OMIM:616638
HP:0001869	Deep plantar creases	9091	PIGQ	OMIM:618548
HP:0001869	Deep plantar creases	526	ATP6V1B2	ORPHA:3473
HP:0001869	Deep plantar creases	3756	KCNH1	ORPHA:3473
HP:0001869	Deep plantar creases	3782	KCNN3	ORPHA:3473
HP:0001869	Deep plantar creases	3265	HRAS	OMIM:218040
HP:0001869	Deep plantar creases	3764	KCNJ8	ORPHA:1517
HP:0001869	Deep plantar creases	10060	ABCC9	ORPHA:1517
HP:0001869	Deep plantar creases	83550	GPR101	ORPHA:963
HP:0001869	Deep plantar creases	9049	AIP	ORPHA:963
HP:0001869	Deep plantar creases	2074	ERCC6	OMIM:214150
HP:0001869	Deep plantar creases	23556	PIGN	ORPHA:280633
HP:0001869	Deep plantar creases	1387	CREBBP	OMIM:180849
HP:0001869	Deep plantar creases	2033	EP300	OMIM:180849
HP:0001870	Acroosteolysis of distal phalanges (feet)	4000	LMNA	ORPHA:280365
HP:0001870	Acroosteolysis of distal phalanges (feet)	4000	LMNA	OMIM:248370
HP:0001870	Acroosteolysis of distal phalanges (feet)	4000	LMNA	ORPHA:90153
HP:0001870	Acroosteolysis of distal phalanges (feet)	10269	ZMPSTE24	OMIM:608612
HP:0001870	Acroosteolysis of distal phalanges (feet)	10269	ZMPSTE24	ORPHA:90154
HP:0001870	Acroosteolysis of distal phalanges (feet)	10651	MTX2	ORPHA:90153
HP:0001871	Abnormality of blood and blood-forming tissues	5618	PRLR	OMIM:615555
HP:0001871	Abnormality of blood and blood-forming tissues	5618	PRLR	ORPHA:397685
HP:0001871	Abnormality of blood and blood-forming tissues	716	C1S	OMIM:617174
HP:0001871	Abnormality of blood and blood-forming tissues	10068	IL18BP	OMIM:618549
HP:0001871	Abnormality of blood and blood-forming tissues	3257	HPS1	OMIM:203300
HP:0001871	Abnormality of blood and blood-forming tissues	715	C1R	OMIM:130080
HP:0001871	Abnormality of blood and blood-forming tissues	9509	ADAMTS2	OMIM:225410
HP:0001871	Abnormality of blood and blood-forming tissues	9578	CDC42BPB	OMIM:619841
HP:0001871	Abnormality of blood and blood-forming tissues	4010	LMX1B	ORPHA:495818
HP:0001871	Abnormality of blood and blood-forming tissues	6812	STXBP1	ORPHA:495818
HP:0001871	Abnormality of blood and blood-forming tissues	776	CACNA1D	ORPHA:369929
HP:0001871	Abnormality of blood and blood-forming tissues	342618	SLFN14	OMIM:616913
HP:0001871	Abnormality of blood and blood-forming tissues	5205	ATP8B1	OMIM:211600
HP:0001871	Abnormality of blood and blood-forming tissues	89781	HPS4	OMIM:614073
HP:0001871	Abnormality of blood and blood-forming tissues	1181	CLCN2	ORPHA:404
HP:0001871	Abnormality of blood and blood-forming tissues	1584	CYP11B1	ORPHA:403
HP:0001871	Abnormality of blood and blood-forming tissues	1585	CYP11B2	ORPHA:403
HP:0001871	Abnormality of blood and blood-forming tissues	3762	KCNJ5	ORPHA:251274
HP:0001871	Abnormality of blood and blood-forming tissues	3913	LAMB2	OMIM:609049
HP:0001871	Abnormality of blood and blood-forming tissues	667	DST	OMIM:614653
HP:0001871	Abnormality of blood and blood-forming tissues	23474	ETHE1	OMIM:602473
HP:0001871	Abnormality of blood and blood-forming tissues	23474	ETHE1	ORPHA:51188
HP:0001871	Abnormality of blood and blood-forming tissues	100506658	OCLN	OMIM:251290
HP:0001871	Abnormality of blood and blood-forming tissues	4668	NAGA	OMIM:609242
HP:0001871	Abnormality of blood and blood-forming tissues	1278	COL1A2	ORPHA:230851
HP:0001871	Abnormality of blood and blood-forming tissues	1278	COL1A2	OMIM:617821
HP:0001871	Abnormality of blood and blood-forming tissues	1278	COL1A2	OMIM:225320
HP:0001871	Abnormality of blood and blood-forming tissues	1278	COL1A2	OMIM:619120
HP:0001871	Abnormality of blood and blood-forming tissues	55033	FKBP14	OMIM:614557
HP:0001871	Abnormality of blood and blood-forming tissues	55033	FKBP14	ORPHA:300179
HP:0001871	Abnormality of blood and blood-forming tissues	165	AEBP1	OMIM:618000
HP:0001871	Abnormality of blood and blood-forming tissues	165	AEBP1	ORPHA:536532
HP:0001871	Abnormality of blood and blood-forming tissues	5831	PYCR1	OMIM:612940
HP:0001871	Abnormality of blood and blood-forming tissues	4784	NFIX	ORPHA:561
HP:0001871	Abnormality of blood and blood-forming tissues	11107	PRDM5	OMIM:614170
HP:0001871	Abnormality of blood and blood-forming tissues	11107	PRDM5	ORPHA:90354
HP:0001871	Abnormality of blood and blood-forming tissues	633	BGN	OMIM:300989
HP:0001871	Abnormality of blood and blood-forming tissues	4507	MTAP	OMIM:112250
HP:0001871	Abnormality of blood and blood-forming tissues	8622	PDE8B	ORPHA:189439
HP:0001871	Abnormality of blood and blood-forming tissues	2934	GSN	ORPHA:85448
HP:0001871	Abnormality of blood and blood-forming tissues	5594	MAPK1	OMIM:619087
HP:0001871	Abnormality of blood and blood-forming tissues	79798	ARMC5	ORPHA:189427
HP:0001871	Abnormality of blood and blood-forming tissues	84627	ZNF469	ORPHA:90354
HP:0001871	Abnormality of blood and blood-forming tissues	126792	B3GALT6	ORPHA:536467
HP:0001871	Abnormality of blood and blood-forming tissues	11117	EMILIN1	OMIM:620080
HP:0001871	Abnormality of blood and blood-forming tissues	60681	FKBP10	OMIM:610968
HP:0001871	Abnormality of blood and blood-forming tissues	91252	SLC39A13	ORPHA:157965
HP:0001871	Abnormality of blood and blood-forming tissues	91252	SLC39A13	OMIM:612350
HP:0001871	Abnormality of blood and blood-forming tissues	717	C2	OMIM:217000
HP:0001871	Abnormality of blood and blood-forming tissues	1471	CST3	OMIM:105150
HP:0001871	Abnormality of blood and blood-forming tissues	1471	CST3	ORPHA:100008
HP:0001871	Abnormality of blood and blood-forming tissues	55654	TMEM127	OMIM:171300
HP:0001871	Abnormality of blood and blood-forming tissues	55654	TMEM127	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	5979	RET	OMIM:171300
HP:0001871	Abnormality of blood and blood-forming tissues	5979	RET	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	5979	RET	ORPHA:276621
HP:0001871	Abnormality of blood and blood-forming tissues	4149	MAX	OMIM:171300
HP:0001871	Abnormality of blood and blood-forming tissues	4149	MAX	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	1743	DLST	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	4191	MDH2	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	8402	SLC25A11	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	54949	SDHAF2	ORPHA:29072
HP:0001871	Abnormality of blood and blood-forming tissues	4771	NF2	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	6598	SMARCB1	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	84231	TRAF7	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	6608	SMO	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	51684	SUFU	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	6605	SMARCE1	ORPHA:2495
HP:0001871	Abnormality of blood and blood-forming tissues	1282	COL4A1	OMIM:175780
HP:0001871	Abnormality of blood and blood-forming tissues	2335	FN1	ORPHA:84090
HP:0001871	Abnormality of blood and blood-forming tissues	11235	PDCD10	OMIM:603285
HP:0001871	Abnormality of blood and blood-forming tissues	11235	PDCD10	ORPHA:221061
HP:0001871	Abnormality of blood and blood-forming tissues	83605	CCM2	OMIM:603284
HP:0001871	Abnormality of blood and blood-forming tissues	83605	CCM2	ORPHA:221061
HP:0001871	Abnormality of blood and blood-forming tissues	889	KRIT1	ORPHA:221061
HP:0001871	Abnormality of blood and blood-forming tissues	2316	FLNA	OMIM:300049
HP:0001871	Abnormality of blood and blood-forming tissues	351	APP	ORPHA:324713
HP:0001871	Abnormality of blood and blood-forming tissues	351	APP	ORPHA:324703
HP:0001871	Abnormality of blood and blood-forming tissues	351	APP	ORPHA:324708
HP:0001871	Abnormality of blood and blood-forming tissues	351	APP	ORPHA:100006
HP:0001871	Abnormality of blood and blood-forming tissues	4854	NOTCH3	ORPHA:136
HP:0001871	Abnormality of blood and blood-forming tissues	442721	LMOD2	OMIM:619897
HP:0001871	Abnormality of blood and blood-forming tissues	11274	USP18	OMIM:617397
HP:0001871	Abnormality of blood and blood-forming tissues	727676	SNORD118	ORPHA:542310
HP:0001871	Abnormality of blood and blood-forming tissues	79184	BRCC3	ORPHA:280679
HP:0001871	Abnormality of blood and blood-forming tissues	1788	DNMT3A	ORPHA:276621
HP:0001871	Abnormality of blood and blood-forming tissues	3784	KCNQ1	OMIM:607554
HP:0001871	Abnormality of blood and blood-forming tissues	7172	TPMT	OMIM:610460
HP:0001871	Abnormality of blood and blood-forming tissues	10195	ALG3	ORPHA:79321
HP:0001871	Abnormality of blood and blood-forming tissues	9896	FIG4	OMIM:216340
HP:0001871	Abnormality of blood and blood-forming tissues	56052	ALG1	ORPHA:79327
HP:0001871	Abnormality of blood and blood-forming tissues	1559	CYP2C9	OMIM:122700
HP:0001871	Abnormality of blood and blood-forming tissues	1548	CYP2A6	OMIM:122700
HP:0001871	Abnormality of blood and blood-forming tissues	4353	MPO	OMIM:254600
HP:0001871	Abnormality of blood and blood-forming tissues	201595	STT3B	OMIM:615597
HP:0001871	Abnormality of blood and blood-forming tissues	201595	STT3B	ORPHA:370924
HP:0001871	Abnormality of blood and blood-forming tissues	166378	AFG2A	OMIM:616577
HP:0001871	Abnormality of blood and blood-forming tissues	1716	DGUOK	OMIM:251880
HP:0001871	Abnormality of blood and blood-forming tissues	25836	NIPBL	OMIM:122470
HP:0001871	Abnormality of blood and blood-forming tissues	55750	AGK	OMIM:212350
HP:0001871	Abnormality of blood and blood-forming tissues	3141	HLCS	OMIM:253270
HP:0001871	Abnormality of blood and blood-forming tissues	3141	HLCS	ORPHA:79242
HP:0001871	Abnormality of blood and blood-forming tissues	55858	TMEM165	OMIM:614727
HP:0001871	Abnormality of blood and blood-forming tissues	10352	WARS2	ORPHA:572798
HP:0001871	Abnormality of blood and blood-forming tissues	10352	WARS2	OMIM:617710
HP:0001871	Abnormality of blood and blood-forming tissues	2321	FLT1	ORPHA:275555
HP:0001871	Abnormality of blood and blood-forming tissues	219736	STOX1	ORPHA:275555
HP:0001871	Abnormality of blood and blood-forming tissues	10699	CORIN	ORPHA:275555
HP:0001871	Abnormality of blood and blood-forming tissues	157570	ESCO2	ORPHA:3103
HP:0001871	Abnormality of blood and blood-forming tissues	4846	NOS3	OMIM:189800
HP:0001871	Abnormality of blood and blood-forming tissues	1287	COL4A5	OMIM:301050
HP:0001871	Abnormality of blood and blood-forming tissues	2475	MTOR	OMIM:616638
HP:0001871	Abnormality of blood and blood-forming tissues	9015	TAF1A	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	5663	PSEN1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	7112	TMPO	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	9464	HAND2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	88	ACTN2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	10486	CAP2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	10060	ABCC9	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	7168	TPM1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	7414	VCL	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	1832	DSP	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	70	ACTC1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	27063	ANKRD1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	8048	CSRP3	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	1410	CRYAB	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	1829	DSG2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	3910	LAMA4	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	63976	PRDM16	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	7273	TTN	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	10587	TXNRD2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	9531	BAG3	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	5350	PLN	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	91624	NEXN	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	79717	PPCS	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	5664	PSEN2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	4624	MYH6	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	9529	BAG5	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	4607	MYBPC3	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	282996	RBM20	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	11155	LDB3	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	2274	FHL2	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	22845	DOLK	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	1756	DMD	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	57798	GATAD1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	7134	TNNC1	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	1674	DES	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	6444	SGCD	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	2218	FKTN	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	8557	TCAP	ORPHA:154
HP:0001871	Abnormality of blood and blood-forming tissues	4689	NCF4	ORPHA:379
HP:0001871	Abnormality of blood and blood-forming tissues	26235	FBXL4	OMIM:615471
HP:0001871	Abnormality of blood and blood-forming tissues	2530	FUT8	OMIM:618005
HP:0001871	Abnormality of blood and blood-forming tissues	816	CAMK2B	OMIM:617799
HP:0001871	Abnormality of blood and blood-forming tissues	4700	NDUFA6	OMIM:618253
HP:0001871	Abnormality of blood and blood-forming tissues	8943	AP3D1	OMIM:617050
HP:0001871	Abnormality of blood and blood-forming tissues	51567	TDP2	OMIM:616949
HP:0001871	Abnormality of blood and blood-forming tissues	27429	HTRA2	OMIM:617248
HP:0001871	Abnormality of blood and blood-forming tissues	7319	UBE2A	ORPHA:163956
HP:0001871	Abnormality of blood and blood-forming tissues	55294	FBXW7	OMIM:620012
HP:0001871	Abnormality of blood and blood-forming tissues	545	ATR	OMIM:210600
HP:0001871	Abnormality of blood and blood-forming tissues	80216	ALPK1	OMIM:614979
HP:0001871	Abnormality of blood and blood-forming tissues	55739	NAXD	OMIM:618321
HP:0001871	Abnormality of blood and blood-forming tissues	51081	MRPS7	OMIM:617872
HP:0001871	Abnormality of blood and blood-forming tissues	29071	C1GALT1C1	OMIM:300622
HP:0001871	Abnormality of blood and blood-forming tissues	8526	DGKE	OMIM:615008
HP:0001871	Abnormality of blood and blood-forming tissues	2937	GSS	OMIM:231900
HP:0001871	Abnormality of blood and blood-forming tissues	2937	GSS	OMIM:266130
HP:0001871	Abnormality of blood and blood-forming tissues	966	CD59	OMIM:612300
HP:0001871	Abnormality of blood and blood-forming tissues	2783	GNB2	OMIM:619503
HP:0001871	Abnormality of blood and blood-forming tissues	286410	ATP11C	OMIM:301015
HP:0001871	Abnormality of blood and blood-forming tissues	51251	NT5C3A	OMIM:266120
HP:0001871	Abnormality of blood and blood-forming tissues	203	AK1	OMIM:612631
HP:0001871	Abnormality of blood and blood-forming tissues	30009	TBX21	OMIM:619630
HP:0001871	Abnormality of blood and blood-forming tissues	825	CAPN3	OMIM:253600
HP:0001871	Abnormality of blood and blood-forming tissues	3716	JAK1	OMIM:618999
HP:0001871	Abnormality of blood and blood-forming tissues	10999	SLC27A4	ORPHA:88621
HP:0001871	Abnormality of blood and blood-forming tissues	55593	OTUD5	OMIM:301056
HP:0001871	Abnormality of blood and blood-forming tissues	157680	VPS13B	OMIM:216550
HP:0001871	Abnormality of blood and blood-forming tissues	2212	FCGR2A	OMIM:152700
HP:0001871	Abnormality of blood and blood-forming tissues	2213	FCGR2B	OMIM:152700
HP:0001871	Abnormality of blood and blood-forming tissues	1773	DNASE1	OMIM:152700
HP:0001871	Abnormality of blood and blood-forming tissues	7128	TNFAIP3	OMIM:616744
HP:0001871	Abnormality of blood and blood-forming tissues	80185	TTI2	ORPHA:391307
HP:0001871	Abnormality of blood and blood-forming tissues	8879	SGPL1	OMIM:617575
HP:0001871	Abnormality of blood and blood-forming tissues	6789	STK4	OMIM:614868
HP:0001871	Abnormality of blood and blood-forming tissues	26227	PHGDH	OMIM:601815
HP:0001871	Abnormality of blood and blood-forming tissues	26227	PHGDH	ORPHA:79351
HP:0001871	Abnormality of blood and blood-forming tissues	4548	MTR	OMIM:250940
HP:0001871	Abnormality of blood and blood-forming tissues	5297	PI4KA	ORPHA:436252
HP:0001871	Abnormality of blood and blood-forming tissues	56984	PSMG2	OMIM:619183
HP:0001871	Abnormality of blood and blood-forming tissues	8074	FGF23	ORPHA:89937
HP:0001871	Abnormality of blood and blood-forming tissues	2590	GALNT2	OMIM:618885
HP:0001871	Abnormality of blood and blood-forming tissues	1280	COL2A1	ORPHA:93315
HP:0001871	Abnormality of blood and blood-forming tissues	3753	KCNE1	ORPHA:90647
HP:0001871	Abnormality of blood and blood-forming tissues	10845	CLPX	OMIM:618015
HP:0001871	Abnormality of blood and blood-forming tissues	1188	CLCNKB	ORPHA:358
HP:0001871	Abnormality of blood and blood-forming tissues	6559	SLC12A3	ORPHA:358
HP:0001871	Abnormality of blood and blood-forming tissues	2538	G6PC1	OMIM:232200
HP:0001871	Abnormality of blood and blood-forming tissues	375	ARF1	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	4131	MAP1B	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	23327	NEDD4L	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	160418	TMTC3	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	10564	ARFGEF2	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	55780	ERMARD	ORPHA:98892
HP:0001871	Abnormality of blood and blood-forming tissues	526	ATP6V1B2	ORPHA:79500
HP:0001871	Abnormality of blood and blood-forming tissues	57465	TBC1D24	ORPHA:79500
HP:0001871	Abnormality of blood and blood-forming tissues	3931	LCAT	OMIM:245900
HP:0001871	Abnormality of blood and blood-forming tissues	5826	ABCD4	OMIM:614857
HP:0001871	Abnormality of blood and blood-forming tissues	669	BPGM	OMIM:222800
HP:0001871	Abnormality of blood and blood-forming tissues	2034	EPAS1	OMIM:611783
HP:0001871	Abnormality of blood and blood-forming tissues	2056	EPO	OMIM:617907
HP:0001871	Abnormality of blood and blood-forming tissues	7428	VHL	OMIM:263400
HP:0001871	Abnormality of blood and blood-forming tissues	54583	EGLN1	OMIM:609820
HP:0001871	Abnormality of blood and blood-forming tissues	2271	FH	OMIM:606812
HP:0001871	Abnormality of blood and blood-forming tissues	1910	EDNRB	OMIM:600501
HP:0001871	Abnormality of blood and blood-forming tissues	1727	CYB5R3	OMIM:250800
HP:0001871	Abnormality of blood and blood-forming tissues	8260	NAA10	OMIM:300855
HP:0001871	Abnormality of blood and blood-forming tissues	948	CD36	OMIM:608404
HP:0001871	Abnormality of blood and blood-forming tissues	261734	NPHP4	OMIM:606996
HP:0001871	Abnormality of blood and blood-forming tissues	261734	NPHP4	OMIM:606966
HP:0001871	Abnormality of blood and blood-forming tissues	84334	COA8	ORPHA:436271
HP:0001871	Abnormality of blood and blood-forming tissues	3909	LAMA3	ORPHA:79404
HP:0001871	Abnormality of blood and blood-forming tissues	3909	LAMA3	ORPHA:79402
HP:0001871	Abnormality of blood and blood-forming tissues	3918	LAMC2	ORPHA:79404
HP:0001871	Abnormality of blood and blood-forming tissues	3918	LAMC2	ORPHA:79402
HP:0001871	Abnormality of blood and blood-forming tissues	3914	LAMB3	ORPHA:79404
HP:0001871	Abnormality of blood and blood-forming tissues	3914	LAMB3	ORPHA:79402
HP:0001871	Abnormality of blood and blood-forming tissues	1308	COL17A1	ORPHA:79406
HP:0001871	Abnormality of blood and blood-forming tissues	1308	COL17A1	ORPHA:79402
HP:0001871	Abnormality of blood and blood-forming tissues	4312	MMP1	ORPHA:79408
HP:0001871	Abnormality of blood and blood-forming tissues	4312	MMP1	OMIM:226600
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	ORPHA:79408
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	ORPHA:79409
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	ORPHA:79410
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	ORPHA:79411
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	OMIM:226600
HP:0001871	Abnormality of blood and blood-forming tissues	1294	COL7A1	ORPHA:89842
HP:0001871	Abnormality of blood and blood-forming tissues	4867	NPHP1	OMIM:266900
HP:0001871	Abnormality of blood and blood-forming tissues	4867	NPHP1	OMIM:256100
HP:0001871	Abnormality of blood and blood-forming tissues	249	ALPL	OMIM:241500
HP:0001871	Abnormality of blood and blood-forming tissues	4141	MARS1	OMIM:615486
HP:0001871	Abnormality of blood and blood-forming tissues	2050	EPHB4	OMIM:617300
HP:0001871	Abnormality of blood and blood-forming tissues	5428	POLG	ORPHA:298
HP:0001871	Abnormality of blood and blood-forming tissues	1890	TYMP	ORPHA:298
HP:0001871	Abnormality of blood and blood-forming tissues	3980	LIG3	ORPHA:298
HP:0001871	Abnormality of blood and blood-forming tissues	50484	RRM2B	ORPHA:298
HP:0001871	Abnormality of blood and blood-forming tissues	3691	ITGB4	ORPHA:79402
HP:0001871	Abnormality of blood and blood-forming tissues	5442	POLRMT	OMIM:619743
HP:0001871	Abnormality of blood and blood-forming tissues	54888	NSUN2	ORPHA:235
HP:0001871	Abnormality of blood and blood-forming tissues	1621	DBH	ORPHA:230
HP:0001871	Abnormality of blood and blood-forming tissues	5972	REN	OMIM:613092
HP:0001871	Abnormality of blood and blood-forming tissues	166785	MMAA	OMIM:251100
HP:0001871	Abnormality of blood and blood-forming tissues	8676	STX11	OMIM:603552
HP:0001871	Abnormality of blood and blood-forming tissues	8676	STX11	ORPHA:540
HP:0001871	Abnormality of blood and blood-forming tissues	540	ATP7B	OMIM:277900
HP:0001871	Abnormality of blood and blood-forming tissues	540	ATP7B	ORPHA:905
HP:0001871	Abnormality of blood and blood-forming tissues	19	ABCA1	ORPHA:31150
HP:0001871	Abnormality of blood and blood-forming tissues	90	ACVR1	ORPHA:337
HP:0001871	Abnormality of blood and blood-forming tissues	55612	FERMT1	ORPHA:2908
HP:0001871	Abnormality of blood and blood-forming tissues	6603	SMARCD2	OMIM:617475
HP:0001871	Abnormality of blood and blood-forming tissues	8565	YARS1	OMIM:619418
HP:0001871	Abnormality of blood and blood-forming tissues	64127	NOD2	ORPHA:90340
HP:0001871	Abnormality of blood and blood-forming tissues	9742	IFT140	OMIM:266920
HP:0001871	Abnormality of blood and blood-forming tissues	5256	PHKA2	ORPHA:264580
HP:0001871	Abnormality of blood and blood-forming tissues	5261	PHKG2	ORPHA:264580
HP:0001871	Abnormality of blood and blood-forming tissues	4594	MMUT	ORPHA:79312
HP:0001871	Abnormality of blood and blood-forming tissues	4594	MMUT	ORPHA:289916
HP:0001871	Abnormality of blood and blood-forming tissues	4558	MT-TF	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4572	MT-TQ	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4513	MT-CO2	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4578	MT-TW	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4540	MT-ND5	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4541	MT-ND6	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4535	MT-ND1	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4538	MT-ND4	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4567	MT-TL1	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4574	MT-TS1	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4574	MT-TS1	OMIM:220110
HP:0001871	Abnormality of blood and blood-forming tissues	4575	MT-TS2	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	4564	MT-TH	ORPHA:550
HP:0001871	Abnormality of blood and blood-forming tissues	5076	PAX2	ORPHA:97362
HP:0001871	Abnormality of blood and blood-forming tissues	5087	PBX1	ORPHA:97362
HP:0001871	Abnormality of blood and blood-forming tissues	54892	NCAPG2	OMIM:618460
HP:0001871	Abnormality of blood and blood-forming tissues	9842	PLEKHM1	OMIM:618107
HP:0001871	Abnormality of blood and blood-forming tissues	9842	PLEKHM1	ORPHA:210110
HP:0001871	Abnormality of blood and blood-forming tissues	256297	PTF1A	OMIM:609069
HP:0001871	Abnormality of blood and blood-forming tissues	29887	SNX10	ORPHA:667
HP:0001871	Abnormality of blood and blood-forming tissues	29887	SNX10	OMIM:615085
HP:0001871	Abnormality of blood and blood-forming tissues	201294	UNC13D	ORPHA:540
HP:0001871	Abnormality of blood and blood-forming tissues	201294	UNC13D	OMIM:608898
HP:0001871	Abnormality of blood and blood-forming tissues	6813	STXBP2	ORPHA:540
HP:0001871	Abnormality of blood and blood-forming tissues	6813	STXBP2	OMIM:613101
HP:0001871	Abnormality of blood and blood-forming tissues	6888	TALDO1	ORPHA:101028
HP:0001871	Abnormality of blood and blood-forming tissues	6888	TALDO1	OMIM:606003
HP:0001871	Abnormality of blood and blood-forming tissues	5568	PRKACG	OMIM:616176
HP:0001871	Abnormality of blood and blood-forming tissues	23729	SHPK	ORPHA:440713
HP:0001871	Abnormality of blood and blood-forming tissues	4952	OCRL	ORPHA:534
HP:0001871	Abnormality of blood and blood-forming tissues	1281	COL3A1	OMIM:130050
HP:0001871	Abnormality of blood and blood-forming tissues	427	ASAH1	ORPHA:333
HP:0001871	Abnormality of blood and blood-forming tissues	10157	AASS	OMIM:238700
HP:0001871	Abnormality of blood and blood-forming tissues	2717	GLA	ORPHA:324
HP:0001871	Abnormality of blood and blood-forming tissues	2717	GLA	OMIM:301500
HP:0001871	Abnormality of blood and blood-forming tissues	56244	BTNL2	ORPHA:797
HP:0001871	Abnormality of blood and blood-forming tissues	5660	PSAP	OMIM:610539
HP:0001871	Abnormality of blood and blood-forming tissues	3251	HPRT1	ORPHA:510
HP:0001871	Abnormality of blood and blood-forming tissues	23322	RPGRIP1L	OMIM:619113
HP:0001871	Abnormality of blood and blood-forming tissues	29927	SEC61A1	OMIM:617056
HP:0001871	Abnormality of blood and blood-forming tissues	2132	EXT2	ORPHA:52022
HP:0001871	Abnormality of blood and blood-forming tissues	60529	ALX4	ORPHA:52022
HP:0001871	Abnormality of blood and blood-forming tissues	51317	PHF21A	ORPHA:52022
HP:0001871	Abnormality of blood and blood-forming tissues	84868	HAVCR2	OMIM:618398
HP:0001871	Abnormality of blood and blood-forming tissues	374879	ZNF699	OMIM:619488
HP:0001871	Abnormality of blood and blood-forming tissues	51473	DCDC2	ORPHA:84081
HP:0001871	Abnormality of blood and blood-forming tissues	91147	TMEM67	ORPHA:84081
HP:0001871	Abnormality of blood and blood-forming tissues	91147	TMEM67	OMIM:613550
HP:0001871	Abnormality of blood and blood-forming tissues	498	ATP5F1A	OMIM:620358
HP:0001871	Abnormality of blood and blood-forming tissues	26137	ZBTB20	ORPHA:3042
HP:0001871	Abnormality of blood and blood-forming tissues	55898	UNC45A	OMIM:619377
HP:0001871	Abnormality of blood and blood-forming tissues	5339	PLEC	OMIM:226670
HP:0001871	Abnormality of blood and blood-forming tissues	6522	SLC4A2	OMIM:620366
HP:0001871	Abnormality of blood and blood-forming tissues	3593	IL12B	ORPHA:3287
HP:0001871	Abnormality of blood and blood-forming tissues	6945	MLX	ORPHA:3287
HP:0001871	Abnormality of blood and blood-forming tissues	4914	NTRK1	ORPHA:642
HP:0001871	Abnormality of blood and blood-forming tissues	1604	CD55	OMIM:226300
HP:0001871	Abnormality of blood and blood-forming tissues	3735	KARS1	OMIM:619147
HP:0001871	Abnormality of blood and blood-forming tissues	4713	NDUFB7	OMIM:620135
HP:0001871	Abnormality of blood and blood-forming tissues	54938	SARS2	OMIM:613845
HP:0001871	Abnormality of blood and blood-forming tissues	1534	CYB561	OMIM:618182
HP:0001871	Abnormality of blood and blood-forming tissues	4570	MT-TN	OMIM:220110
HP:0001871	Abnormality of blood and blood-forming tissues	6834	SURF1	OMIM:220110
HP:0001871	Abnormality of blood and blood-forming tissues	6834	SURF1	ORPHA:70474
HP:0001871	Abnormality of blood and blood-forming tissues	6834	SURF1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	23241	PACS2	OMIM:618067
HP:0001871	Abnormality of blood and blood-forming tissues	10667	FARS2	OMIM:614946
HP:0001871	Abnormality of blood and blood-forming tissues	3560	IL2RB	ORPHA:85408
HP:0001871	Abnormality of blood and blood-forming tissues	79722	ANKRD55	ORPHA:85408
HP:0001871	Abnormality of blood and blood-forming tissues	3559	IL2RA	ORPHA:85408
HP:0001871	Abnormality of blood and blood-forming tissues	5771	PTPN2	ORPHA:85408
HP:0001871	Abnormality of blood and blood-forming tissues	2130	EWSR1	ORPHA:83469
HP:0001871	Abnormality of blood and blood-forming tissues	7490	WT1	ORPHA:83469
HP:0001871	Abnormality of blood and blood-forming tissues	30061	SLC40A1	OMIM:606069
HP:0001871	Abnormality of blood and blood-forming tissues	9382	COG1	OMIM:611209
HP:0001871	Abnormality of blood and blood-forming tissues	340061	STING1	OMIM:615934
HP:0001871	Abnormality of blood and blood-forming tissues	8792	TNFRSF11A	OMIM:612301
HP:0001871	Abnormality of blood and blood-forming tissues	5095	PCCA	OMIM:606054
HP:0001871	Abnormality of blood and blood-forming tissues	5096	PCCB	OMIM:606054
HP:0001871	Abnormality of blood and blood-forming tissues	1789	DNMT3B	ORPHA:2268
HP:0001871	Abnormality of blood and blood-forming tissues	9841	ZBTB24	ORPHA:2268
HP:0001871	Abnormality of blood and blood-forming tissues	4582	MUC1	OMIM:174000
HP:0001871	Abnormality of blood and blood-forming tissues	330	BIRC3	ORPHA:52417
HP:0001871	Abnormality of blood and blood-forming tissues	10892	MALT1	ORPHA:52417
HP:0001871	Abnormality of blood and blood-forming tissues	27086	FOXP1	ORPHA:52417
HP:0001871	Abnormality of blood and blood-forming tissues	10841	FTCD	ORPHA:51208
HP:0001871	Abnormality of blood and blood-forming tissues	90624	LYRM7	OMIM:615838
HP:0001871	Abnormality of blood and blood-forming tissues	10056	FARSB	OMIM:613658
HP:0001871	Abnormality of blood and blood-forming tissues	55719	SLF2	OMIM:620184
HP:0001871	Abnormality of blood and blood-forming tissues	55027	HEATR3	OMIM:620072
HP:0001871	Abnormality of blood and blood-forming tissues	866	SERPINA6	OMIM:611489
HP:0001871	Abnormality of blood and blood-forming tissues	6905	TBCE	OMIM:244460
HP:0001871	Abnormality of blood and blood-forming tissues	57817	HAMP	OMIM:613313
HP:0001871	Abnormality of blood and blood-forming tissues	63901	FAM111A	OMIM:127000
HP:0001871	Abnormality of blood and blood-forming tissues	63901	FAM111A	ORPHA:93325
HP:0001871	Abnormality of blood and blood-forming tissues	3932	LCK	OMIM:615758
HP:0001871	Abnormality of blood and blood-forming tissues	2495	FTH1	OMIM:615517
HP:0001871	Abnormality of blood and blood-forming tissues	27034	ACAD8	OMIM:611283
HP:0001871	Abnormality of blood and blood-forming tissues	23095	KIF1B	OMIM:256700
HP:0001871	Abnormality of blood and blood-forming tissues	79840	NHEJ1	ORPHA:169079
HP:0001871	Abnormality of blood and blood-forming tissues	27235	COQ2	OMIM:607426
HP:0001871	Abnormality of blood and blood-forming tissues	51218	GLRX5	OMIM:616860
HP:0001871	Abnormality of blood and blood-forming tissues	5257	PHKB	ORPHA:79240
HP:0001871	Abnormality of blood and blood-forming tissues	197131	UBR1	ORPHA:2315
HP:0001871	Abnormality of blood and blood-forming tissues	7067	THRA	OMIM:614450
HP:0001871	Abnormality of blood and blood-forming tissues	4891	SLC11A2	OMIM:206100
HP:0001871	Abnormality of blood and blood-forming tissues	9419	CRIPT	OMIM:615789
HP:0001871	Abnormality of blood and blood-forming tissues	5498	PPOX	ORPHA:79473
HP:0001871	Abnormality of blood and blood-forming tissues	326625	MMAB	OMIM:251110
HP:0001871	Abnormality of blood and blood-forming tissues	2328	FMO3	OMIM:602079
HP:0001871	Abnormality of blood and blood-forming tissues	7036	TFR2	OMIM:604250
HP:0001871	Abnormality of blood and blood-forming tissues	189	AGXT	ORPHA:93598
HP:0001871	Abnormality of blood and blood-forming tissues	25915	NDUFAF3	ORPHA:70474
HP:0001871	Abnormality of blood and blood-forming tissues	4714	NDUFB8	ORPHA:70474
HP:0001871	Abnormality of blood and blood-forming tissues	4720	NDUFS2	ORPHA:70474
HP:0001871	Abnormality of blood and blood-forming tissues	4720	NDUFS2	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	9997	SCO2	ORPHA:70474
HP:0001871	Abnormality of blood and blood-forming tissues	81	ACTN4	OMIM:603278
HP:0001871	Abnormality of blood and blood-forming tissues	55278	QRSL1	OMIM:618835
HP:0001871	Abnormality of blood and blood-forming tissues	5188	GATB	OMIM:618838
HP:0001871	Abnormality of blood and blood-forming tissues	283459	GATC	OMIM:618839
HP:0001871	Abnormality of blood and blood-forming tissues	80704	SLC19A3	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	91942	NDUFAF2	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4723	NDUFV1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	55572	FOXRED1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4729	NDUFV2	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	55967	NDUFA12	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	51204	TACO1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4724	NDUFS4	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4728	NDUFS8	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	137682	NDUFAF6	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4722	NDUFS3	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	79133	NDUFAF5	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	5160	PDHA1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	1355	COX15	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	1892	ECHS1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	123263	MTFMT	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	51079	NDUFA13	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	374291	NDUFS7	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4705	NDUFA10	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	51601	LIPT1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4719	NDUFS1	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4695	NDUFA2	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4697	NDUFA4	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	4704	NDUFA9	ORPHA:255241
HP:0001871	Abnormality of blood and blood-forming tissues	5116	PCNT	ORPHA:2637
HP:0001871	Abnormality of blood and blood-forming tissues	6137	RPL13	OMIM:618728
HP:0001871	Abnormality of blood and blood-forming tissues	3852	KRT5	ORPHA:79396
HP:0001871	Abnormality of blood and blood-forming tissues	3861	KRT14	ORPHA:79396
HP:0001871	Abnormality of blood and blood-forming tissues	2215	FCGR3B	ORPHA:464370
HP:0001871	Abnormality of blood and blood-forming tissues	5294	PIK3CG	OMIM:619802
HP:0001871	Abnormality of blood and blood-forming tissues	83737	ITCH	ORPHA:228426
HP:0001871	Abnormality of blood and blood-forming tissues	6331	SCN5A	ORPHA:1344
HP:0001871	Abnormality of blood and blood-forming tissues	4878	NPPA	ORPHA:1344
HP:0001871	Abnormality of blood and blood-forming tissues	4519	MT-CYB	ORPHA:137675
HP:0001871	Abnormality of blood and blood-forming tissues	2057	EPOR	ORPHA:90042
HP:0001871	Abnormality of blood and blood-forming tissues	84665	MYPN	ORPHA:75249
HP:0001871	Abnormality of blood and blood-forming tissues	2318	FLNC	ORPHA:75249
HP:0001871	Abnormality of blood and blood-forming tissues	7139	TNNT2	ORPHA:75249
HP:0001871	Abnormality of blood and blood-forming tissues	7137	TNNI3	ORPHA:75249
HP:0001871	Abnormality of blood and blood-forming tissues	10112	KIF20A	ORPHA:75249
HP:0001871	Abnormality of blood and blood-forming tissues	3777	KCNK3	OMIM:615344
HP:0001871	Abnormality of blood and blood-forming tissues	7276	TTR	ORPHA:85451
HP:0001871	Abnormality of blood and blood-forming tissues	10370	CITED2	ORPHA:99105
HP:0001871	Abnormality of blood and blood-forming tissues	5052	PRDX1	OMIM:277400
HP:0001871	Abnormality of blood and blood-forming tissues	7092	TLL1	ORPHA:99106
HP:0001871	Abnormality of blood and blood-forming tissues	50940	PDE11A	ORPHA:1359
HP:0001871	Abnormality of blood and blood-forming tissues	8294	H4C9	OMIM:619951
HP:0001871	Abnormality of blood and blood-forming tissues	25913	POT1	OMIM:616568
HP:0001871	Abnormality of blood and blood-forming tissues	6335	SCN9A	ORPHA:90026
HP:0001871	Abnormality of blood and blood-forming tissues	11280	SCN11A	ORPHA:90026
HP:0001871	Abnormality of blood and blood-forming tissues	6336	SCN10A	ORPHA:90026
HP:0001871	Abnormality of blood and blood-forming tissues	1387	CREBBP	OMIM:180849
HP:0001871	Abnormality of blood and blood-forming tissues	2033	EP300	OMIM:180849
HP:0001871	Abnormality of blood and blood-forming tissues	9401	RECQL4	ORPHA:221016
HP:0001871	Abnormality of blood and blood-forming tissues	2065	ERBB3	OMIM:133180
HP:0001871	Abnormality of blood and blood-forming tissues	701	BUB1B	OMIM:257300
HP:0001871	Abnormality of blood and blood-forming tissues	1029	CDKN2A	ORPHA:524
HP:0001871	Abnormality of blood and blood-forming tissues	4193	MDM2	ORPHA:524
HP:0001871	Abnormality of blood and blood-forming tissues	11200	CHEK2	ORPHA:524
HP:0001871	Abnormality of blood and blood-forming tissues	10312	TCIRG1	ORPHA:486
HP:0001871	Abnormality of blood and blood-forming tissues	2672	GFI1	ORPHA:486
HP:0001871	Abnormality of blood and blood-forming tissues	3832	KIF11	ORPHA:2526
HP:0001871	Abnormality of blood and blood-forming tissues	4763	NF1	ORPHA:97685
HP:0001871	Abnormality of blood and blood-forming tissues	23476	BRD4	ORPHA:443167
HP:0001871	Abnormality of blood and blood-forming tissues	256646	NUTM1	ORPHA:443167
HP:0001871	Abnormality of blood and blood-forming tissues	64682	ANAPC1	ORPHA:221008
HP:0001871	Abnormality of blood and blood-forming tissues	51099	ABHD5	ORPHA:98907
HP:0001871	Abnormality of blood and blood-forming tissues	6901	TAFAZZIN	OMIM:302060
HP:0001871	Abnormality of blood and blood-forming tissues	26503	SLC17A5	OMIM:604369
HP:0001871	Abnormality of blood and blood-forming tissues	26503	SLC17A5	OMIM:269920
HP:0001871	Abnormality of blood and blood-forming tissues	57104	PNPLA2	ORPHA:565612
HP:0001871	Abnormality of blood and blood-forming tissues	4125	MAN2B1	OMIM:248500
HP:0001871	Abnormality of blood and blood-forming tissues	5538	PPT1	OMIM:256730
HP:0001871	Abnormality of blood and blood-forming tissues	2517	FUCA1	OMIM:230000
HP:0001871	Abnormality of blood and blood-forming tissues	1203	CLN5	OMIM:256731
HP:0001871	Abnormality of blood and blood-forming tissues	1201	CLN3	OMIM:204200
HP:0001871	Abnormality of blood and blood-forming tissues	1201	CLN3	ORPHA:228346
HP:0001871	Abnormality of blood and blood-forming tissues	175	AGA	OMIM:208400
HP:0001871	Abnormality of blood and blood-forming tissues	4758	NEU1	OMIM:256550
HP:0001871	Abnormality of blood and blood-forming tissues	10483	SEC23B	OMIM:224100
HP:0001871	Abnormality of blood and blood-forming tissues	3098	HK1	OMIM:235700
HP:0001871	Abnormality of blood and blood-forming tissues	2729	GCLC	ORPHA:33574
HP:0001871	Abnormality of blood and blood-forming tissues	5230	PGK1	OMIM:300653
HP:0001871	Abnormality of blood and blood-forming tissues	5230	PGK1	ORPHA:713
HP:0001871	Abnormality of blood and blood-forming tissues	5213	PFKM	OMIM:232800
HP:0001871	Abnormality of blood and blood-forming tissues	1371	CPOX	OMIM:618892
HP:0001871	Abnormality of blood and blood-forming tissues	22	ABCB7	OMIM:301310
HP:0001871	Abnormality of blood and blood-forming tissues	80324	PUS1	OMIM:600462
HP:0001871	Abnormality of blood and blood-forming tissues	3313	HSPA9	OMIM:182170
HP:0001871	Abnormality of blood and blood-forming tissues	51067	YARS2	OMIM:613561
HP:0001871	Abnormality of blood and blood-forming tissues	54977	SLC25A38	OMIM:205950
HP:0001871	Abnormality of blood and blood-forming tissues	23479	ISCU	OMIM:255125
HP:0001871	Abnormality of blood and blood-forming tissues	126410	CYP4F22	OMIM:604777
HP:0001871	Abnormality of blood and blood-forming tissues	4547	MTTP	ORPHA:14
HP:0001871	Abnormality of blood and blood-forming tissues	4547	MTTP	OMIM:200100
HP:0001871	Abnormality of blood and blood-forming tissues	7504	XK	OMIM:300842
HP:0001871	Abnormality of blood and blood-forming tissues	23230	VPS13A	OMIM:200150
HP:0001871	Abnormality of blood and blood-forming tissues	23230	VPS13A	ORPHA:2388
HP:0001871	Abnormality of blood and blood-forming tissues	338	APOB	OMIM:615558
HP:0001871	Abnormality of blood and blood-forming tissues	51128	SAR1B	ORPHA:71
HP:0001871	Abnormality of blood and blood-forming tissues	80025	PANK2	OMIM:607236
HP:0001871	Abnormality of blood and blood-forming tissues	80025	PANK2	OMIM:234200
HP:0001871	Abnormality of blood and blood-forming tissues	2592	GALT	ORPHA:79239
HP:0001871	Abnormality of blood and blood-forming tissues	1244	ABCC2	ORPHA:234
HP:0001871	Abnormality of blood and blood-forming tissues	6748	SSR4	ORPHA:370927
HP:0001871	Abnormality of blood and blood-forming tissues	6748	SSR4	OMIM:300934
HP:0001871	Abnormality of blood and blood-forming tissues	5745	PTH1R	ORPHA:296
HP:0001871	Abnormality of blood and blood-forming tissues	3418	IDH2	ORPHA:296
HP:0001871	Abnormality of blood and blood-forming tissues	3417	IDH1	ORPHA:296
HP:0001871	Abnormality of blood and blood-forming tissues	54914	FOCAD	OMIM:619991
HP:0001871	Abnormality of blood and blood-forming tissues	55532	SLC30A10	ORPHA:309854
HP:0001871	Abnormality of blood and blood-forming tissues	22800	RRAS2	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	6016	RIT1	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	6237	RRAS	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	5894	RAF1	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	22808	MRAS	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	200734	SPRED2	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	6655	SOS2	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	5922	RASA2	ORPHA:648
HP:0001871	Abnormality of blood and blood-forming tissues	7386	UQCRFS1	OMIM:618775
HP:0001871	Abnormality of blood and blood-forming tissues	7010	TEK	ORPHA:1059
HP:0001871	Abnormality of blood and blood-forming tissues	55670	PEX26	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5824	PEX19	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5828	PEX2	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	8504	PEX3	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	8799	PEX11B	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	9409	PEX16	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5190	PEX6	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5830	PEX5	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5189	PEX1	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5193	PEX12	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5194	PEX13	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5195	PEX14	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	5192	PEX10	ORPHA:912
HP:0001871	Abnormality of blood and blood-forming tissues	8216	LZTR1	OMIM:616564
HP:0001871	Abnormality of blood and blood-forming tissues	85365	ALG2	OMIM:607906
HP:0001871	Abnormality of blood and blood-forming tissues	226	ALDOA	OMIM:611881
HP:0001871	Abnormality of blood and blood-forming tissues	63916	ELMO2	OMIM:606893
HP:0001871	Abnormality of blood and blood-forming tissues	7018	TF	OMIM:209300
HP:0001871	Abnormality of blood and blood-forming tissues	113189	CHST14	ORPHA:2953
HP:0001871	Abnormality of blood and blood-forming tissues	29940	DSE	ORPHA:2953
HP:0001871	Abnormality of blood and blood-forming tissues	5155	PDGFB	ORPHA:1980
HP:0001871	Abnormality of blood and blood-forming tissues	9213	XPR1	ORPHA:1980
HP:0001871	Abnormality of blood and blood-forming tissues	57462	MYORG	ORPHA:1980
HP:0001871	Abnormality of blood and blood-forming tissues	6575	SLC20A2	ORPHA:1980
HP:0001871	Abnormality of blood and blood-forming tissues	58494	JAM2	ORPHA:1980
HP:0001871	Abnormality of blood and blood-forming tissues	151188	ARL6IP6	ORPHA:1556
HP:0001871	Abnormality of blood and blood-forming tissues	5345	SERPINF2	ORPHA:79
HP:0001871	Abnormality of blood and blood-forming tissues	5345	SERPINF2	OMIM:262850
HP:0001871	Abnormality of blood and blood-forming tissues	3045	HBD	ORPHA:231237
HP:0001871	Abnormality of blood and blood-forming tissues	10265	IRX5	OMIM:611174
HP:0001871	Abnormality of blood and blood-forming tissues	2193	FARSA	OMIM:619013
HP:0001871	Abnormality of blood and blood-forming tissues	26007	TKFC	OMIM:618805
HP:0001871	Abnormality of blood and blood-forming tissues	847	CAT	ORPHA:926
HP:0001871	Abnormality of blood and blood-forming tissues	112812	FDX2	OMIM:251900
HP:0001871	Abnormality of blood and blood-forming tissues	1468	SLC25A10	OMIM:618972
HP:0001871	Abnormality of blood and blood-forming tissues	8737	RIPK1	OMIM:618852
HP:0001871	Abnormality of blood and blood-forming tissues	8803	SUCLA2	OMIM:612073
HP:0001871	Abnormality of blood and blood-forming tissues	3658	IREB2	OMIM:618451
HP:0001871	Abnormality of blood and blood-forming tissues	89874	SLC25A21	OMIM:618811
HP:0001871	Abnormality of blood and blood-forming tissues	2235	FECH	ORPHA:79278
HP:0001871	Abnormality of blood and blood-forming tissues	6696	SPP1	ORPHA:93552
HP:0001871	Abnormality of blood and blood-forming tissues	3654	IRAK1	ORPHA:93552
HP:0001871	Abnormality of blood and blood-forming tissues	629	CFB	OMIM:612924
HP:0001871	Abnormality of blood and blood-forming tissues	718	C3	OMIM:612925
HP:0001871	Abnormality of blood and blood-forming tissues	10059	DNM1L	ORPHA:98673
HP:0001871	Abnormality of blood and blood-forming tissues	4976	OPA1	ORPHA:98673
HP:0001871	Abnormality of blood and blood-forming tissues	8029	CUBN	ORPHA:35858
HP:0001871	Abnormality of blood and blood-forming tissues	81693	AMN	ORPHA:35858
HP:0001871	Abnormality of blood and blood-forming tissues	212	ALAS2	OMIM:300751
HP:0001871	Abnormality of blood and blood-forming tissues	119559	SFXN4	OMIM:615578
HP:0001871	Abnormality of blood and blood-forming tissues	51520	LARS1	OMIM:615438
HP:0001871	Abnormality of blood and blood-forming tissues	3117	HLA-DQA1	OMIM:212750
HP:0001871	Abnormality of blood and blood-forming tissues	3119	HLA-DQB1	OMIM:212750
HP:0001871	Abnormality of blood and blood-forming tissues	5700	PSMC1	OMIM:620071
HP:0001871	Abnormality of blood and blood-forming tissues	7317	UBA1	OMIM:301054
HP:0001871	Abnormality of blood and blood-forming tissues	4522	MTHFD1	OMIM:617780
HP:0001871	Abnormality of blood and blood-forming tissues	1352	COX10	OMIM:619046
HP:0001871	Abnormality of blood and blood-forming tissues	5880	RAC2	OMIM:608203
HP:0001871	Abnormality of blood and blood-forming tissues	10043	TOM1	ORPHA:391487
HP:0001871	Abnormality of blood and blood-forming tissues	975	CD81	OMIM:613496
HP:0001871	Abnormality of blood and blood-forming tissues	975	CD81	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	54440	SASH3	OMIM:301082
HP:0001871	Abnormality of blood and blood-forming tissues	7174	TPP2	ORPHA:444463
HP:0001871	Abnormality of blood and blood-forming tissues	7174	TPP2	OMIM:619220
HP:0001871	Abnormality of blood and blood-forming tissues	51284	TLR7	OMIM:301080
HP:0001871	Abnormality of blood and blood-forming tissues	56259	CTNNBL1	OMIM:619846
HP:0001871	Abnormality of blood and blood-forming tissues	54	ACP5	OMIM:607944
HP:0001871	Abnormality of blood and blood-forming tissues	54	ACP5	ORPHA:1855
HP:0001871	Abnormality of blood and blood-forming tissues	8651	SOCS1	OMIM:619375
HP:0001871	Abnormality of blood and blood-forming tissues	27040	LAT	OMIM:617514
HP:0001871	Abnormality of blood and blood-forming tissues	2581	GALC	OMIM:245200
HP:0001871	Abnormality of blood and blood-forming tissues	23495	TNFRSF13B	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	4790	NFKB1	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	115650	TNFRSF13C	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	1380	CR2	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	8742	TNFSF12	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	930	CD19	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	29851	ICOS	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	931	MS4A1	ORPHA:1572
HP:0001871	Abnormality of blood and blood-forming tissues	9138	ARHGEF1	OMIM:618459
HP:0001871	Abnormality of blood and blood-forming tissues	8085	KMT2D	OMIM:147920
HP:0001871	Abnormality of blood and blood-forming tissues	7403	KDM6A	OMIM:147920
HP:0001871	Abnormality of blood and blood-forming tissues	3689	ITGB2	OMIM:116920
HP:0001871	Abnormality of blood and blood-forming tissues	3155	HMGCL	ORPHA:20
HP:0001871	Abnormality of blood and blood-forming tissues	90268	OTULIN	OMIM:617099
HP:0001871	Abnormality of blood and blood-forming tissues	27178	IL37	OMIM:619398
HP:0001871	Abnormality of blood and blood-forming tissues	5293	PIK3CD	OMIM:619281
HP:0001871	Abnormality of blood and blood-forming tissues	8882	ZPR1	OMIM:619321
HP:0001871	Abnormality of blood and blood-forming tissues	10616	RBCK1	OMIM:615895
HP:0001871	Abnormality of blood and blood-forming tissues	6773	STAT2	OMIM:618886
HP:0001871	Abnormality of blood and blood-forming tissues	26525	IL36RN	OMIM:614204
HP:0001871	Abnormality of blood and blood-forming tissues	22852	ANKRD26	OMIM:188000
HP:0001871	Abnormality of blood and blood-forming tissues	114548	NLRP3	ORPHA:1451
HP:0001871	Abnormality of blood and blood-forming tissues	114548	NLRP3	OMIM:191900
HP:0001871	Abnormality of blood and blood-forming tissues	114548	NLRP3	OMIM:607115
HP:0001871	Abnormality of blood and blood-forming tissues	114548	NLRP3	OMIM:120100
HP:0001871	Abnormality of blood and blood-forming tissues	57167	SALL4	ORPHA:2307
HP:0001871	Abnormality of blood and blood-forming tissues	57167	SALL4	OMIM:147750
HP:0001871	Abnormality of blood and blood-forming tissues	846	CASR	ORPHA:676
HP:0001871	Abnormality of blood and blood-forming tissues	1357	CPA1	ORPHA:676
HP:0001871	Abnormality of blood and blood-forming tissues	10367	MICU1	OMIM:615673
HP:0001871	Abnormality of blood and blood-forming tissues	55636	CHD7	ORPHA:39041
HP:0001871	Abnormality of blood and blood-forming tissues	144811	LACC1	OMIM:618795
HP:0001871	Abnormality of blood and blood-forming tissues	91662	NLRP12	OMIM:611762
HP:0001871	Abnormality of blood and blood-forming tissues	10551	AGR2	OMIM:620233
HP:0001871	Abnormality of blood and blood-forming tissues	55343	SLC35C1	ORPHA:99843
HP:0001871	Abnormality of blood and blood-forming tissues	38	ACAT1	ORPHA:134
HP:0001871	Abnormality of blood and blood-forming tissues	5966	REL	OMIM:619652
HP:0001871	Abnormality of blood and blood-forming tissues	4938	OAS1	OMIM:618042
HP:0001871	Abnormality of blood and blood-forming tissues	9939	RBM8A	OMIM:274000
HP:0001871	Abnormality of blood and blood-forming tissues	8517	IKBKG	OMIM:308300
HP:0001871	Abnormality of blood and blood-forming tissues	7187	TRAF3	ORPHA:1930
HP:0001871	Abnormality of blood and blood-forming tissues	81622	UNC93B1	ORPHA:1930
HP:0001871	Abnormality of blood and blood-forming tissues	148022	TICAM1	ORPHA:1930
HP:0001871	Abnormality of blood and blood-forming tissues	7098	TLR3	ORPHA:1930
HP:0001871	Abnormality of blood and blood-forming tissues	29110	TBK1	ORPHA:1930
HP:0001871	Abnormality of blood and blood-forming tissues	79644	SRD5A3	ORPHA:324737
HP:0001871	Abnormality of blood and blood-forming tissues	79644	SRD5A3	OMIM:612379
HP:0001871	Abnormality of blood and blood-forming tissues	5373	PMM2	ORPHA:79318
HP:0001871	Abnormality of blood and blood-forming tissues	5373	PMM2	OMIM:212065
HP:0001871	Abnormality of blood and blood-forming tissues	191	AHCY	ORPHA:88618
HP:0001871	Abnormality of blood and blood-forming tissues	8818	DPM2	ORPHA:329178
HP:0001871	Abnormality of blood and blood-forming tissues	2542	SLC37A4	OMIM:619525
HP:0001871	Abnormality of blood and blood-forming tissues	81031	SLC2A10	OMIM:208050
HP:0001871	Abnormality of blood and blood-forming tissues	91869	RFT1	ORPHA:244310
HP:0001871	Abnormality of blood and blood-forming tissues	1080	CFTR	OMIM:167800
HP:0001871	Abnormality of blood and blood-forming tissues	11330	CTRC	OMIM:167800
HP:0001871	Abnormality of blood and blood-forming tissues	6690	SPINK1	OMIM:167800
HP:0001871	Abnormality of blood and blood-forming tissues	5645	PRSS2	OMIM:167800
HP:0001871	Abnormality of blood and blood-forming tissues	5644	PRSS1	OMIM:167800
HP:0001871	Abnormality of blood and blood-forming tissues	659	BMPR2	OMIM:178600
HP:0001871	Abnormality of blood and blood-forming tissues	5340	PLG	OMIM:217090
HP:0001871	Abnormality of blood and blood-forming tissues	83706	FERMT3	OMIM:612840
HP:0001871	Abnormality of blood and blood-forming tissues	2263	FGFR2	ORPHA:313855
HP:0001871	Abnormality of blood and blood-forming tissues	8600	TNFSF11	OMIM:259710
HP:0001871	Abnormality of blood and blood-forming tissues	6718	AKR1D1	ORPHA:79303
HP:0001871	Abnormality of blood and blood-forming tissues	28962	OSTM1	OMIM:259720
HP:0001871	Abnormality of blood and blood-forming tissues	6948	TCN2	OMIM:275350
HP:0001871	Abnormality of blood and blood-forming tissues	6948	TCN2	ORPHA:859
HP:0001871	Abnormality of blood and blood-forming tissues	790	CAD	OMIM:616457
HP:0001871	Abnormality of blood and blood-forming tissues	6573	SLC19A1	OMIM:601775
HP:0001871	Abnormality of blood and blood-forming tissues	11093	ADAMTS13	OMIM:274150
HP:0001871	Abnormality of blood and blood-forming tissues	6309	SC5D	OMIM:607330
HP:0001871	Abnormality of blood and blood-forming tissues	6609	SMPD1	OMIM:607616
HP:0001871	Abnormality of blood and blood-forming tissues	6609	SMPD1	OMIM:257200
HP:0001871	Abnormality of blood and blood-forming tissues	10577	NPC2	OMIM:607625
HP:0001871	Abnormality of blood and blood-forming tissues	2720	GLB1	OMIM:230600
HP:0001871	Abnormality of blood and blood-forming tissues	4864	NPC1	OMIM:257220
HP:0001871	Abnormality of blood and blood-forming tissues	2548	GAA	OMIM:232300
HP:0001871	Abnormality of blood and blood-forming tissues	4088	SMAD3	OMIM:613795
HP:0001871	Abnormality of blood and blood-forming tissues	4088	SMAD3	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	55901	THSD1	OMIM:618734
HP:0001871	Abnormality of blood and blood-forming tissues	55901	THSD1	ORPHA:231160
HP:0001871	Abnormality of blood and blood-forming tissues	4629	MYH11	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	7046	TGFBR1	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	4015	LOX	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	4087	SMAD2	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	7043	TGFB3	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	2200	FBN1	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	59	ACTA2	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	5592	PRKG1	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	2301	FOXE3	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	4144	MAT2A	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	23493	HEY2	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	8076	MFAP5	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	4638	MYLK	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	2006	ELN	ORPHA:91387
HP:0001871	Abnormality of blood and blood-forming tissues	7049	TGFBR3	ORPHA:231160
HP:0001871	Abnormality of blood and blood-forming tissues	83854	ANGPTL6	ORPHA:231160
HP:0001871	Abnormality of blood and blood-forming tissues	65062	TMEM237	OMIM:614424
HP:0001871	Abnormality of blood and blood-forming tissues	10269	ZMPSTE24	ORPHA:740
HP:0001871	Abnormality of blood and blood-forming tissues	1284	COL4A2	OMIM:614483
HP:0001871	Abnormality of blood and blood-forming tissues	340665	CYP26C1	ORPHA:398189
HP:0001871	Abnormality of blood and blood-forming tissues	25942	SIN3A	OMIM:613406
HP:0001871	Abnormality of blood and blood-forming tissues	171023	ASXL1	ORPHA:98850
HP:0001871	Abnormality of blood and blood-forming tissues	867	CBL	ORPHA:98850
HP:0001871	Abnormality of blood and blood-forming tissues	861	RUNX1	ORPHA:98850
HP:0001871	Abnormality of blood and blood-forming tissues	6427	SRSF2	ORPHA:98850
HP:0001871	Abnormality of blood and blood-forming tissues	2812	GP1BB	ORPHA:274
HP:0001871	Abnormality of blood and blood-forming tissues	2812	GP1BB	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	2812	GP1BB	ORPHA:853
HP:0001871	Abnormality of blood and blood-forming tissues	2812	GP1BB	OMIM:231200
HP:0001871	Abnormality of blood and blood-forming tissues	2815	GP9	ORPHA:274
HP:0001871	Abnormality of blood and blood-forming tissues	2815	GP9	OMIM:231200
HP:0001871	Abnormality of blood and blood-forming tissues	229	ALDOB	OMIM:229600
HP:0001871	Abnormality of blood and blood-forming tissues	5351	PLOD1	OMIM:225400
HP:0001871	Abnormality of blood and blood-forming tissues	7148	TNXB	ORPHA:230839
HP:0001871	Abnormality of blood and blood-forming tissues	80270	HSD3B7	ORPHA:79301
HP:0001871	Abnormality of blood and blood-forming tissues	4072	EPCAM	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	4292	MLH1	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	5395	PMS2	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	27030	MLH3	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	22909	FAN1	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	7048	TGFBR2	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	3845	KRAS	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	5290	PIK3CA	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	2956	MSH6	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	5378	PMS1	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	4436	MSH2	ORPHA:144
HP:0001871	Abnormality of blood and blood-forming tissues	4609	MYC	ORPHA:543
HP:0001871	Abnormality of blood and blood-forming tissues	64218	SEMA4A	ORPHA:440437
HP:0001871	Abnormality of blood and blood-forming tissues	7248	TSC1	ORPHA:538
HP:0001871	Abnormality of blood and blood-forming tissues	7249	TSC2	ORPHA:538
HP:0001871	Abnormality of blood and blood-forming tissues	2022	ENG	OMIM:187300
HP:0001871	Abnormality of blood and blood-forming tissues	2022	ENG	ORPHA:774
HP:0001871	Abnormality of blood and blood-forming tissues	10320	IKZF1	ORPHA:36426
HP:0001871	Abnormality of blood and blood-forming tissues	3674	ITGA2B	ORPHA:849
HP:0001871	Abnormality of blood and blood-forming tissues	3674	ITGA2B	OMIM:273800
HP:0001871	Abnormality of blood and blood-forming tissues	3674	ITGA2B	ORPHA:853
HP:0001871	Abnormality of blood and blood-forming tissues	3690	ITGB3	ORPHA:849
HP:0001871	Abnormality of blood and blood-forming tissues	3690	ITGB3	ORPHA:853
HP:0001871	Abnormality of blood and blood-forming tissues	7132	TNFRSF1A	OMIM:142680
HP:0001871	Abnormality of blood and blood-forming tissues	55109	AGGF1	ORPHA:90308
HP:0001871	Abnormality of blood and blood-forming tissues	2160	F11	ORPHA:329
HP:0001871	Abnormality of blood and blood-forming tissues	2159	F10	ORPHA:328
HP:0001871	Abnormality of blood and blood-forming tissues	1312	COMT	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	221037	JMJD1C	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	6239	RREB1	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	6899	TBX1	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	7290	HIRA	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	9632	SEC24C	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	7353	UFD1	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	421	ARVCF	ORPHA:567
HP:0001871	Abnormality of blood and blood-forming tissues	3248	HPGD	ORPHA:2796
HP:0001871	Abnormality of blood and blood-forming tissues	6578	SLCO2A1	ORPHA:2796
HP:0001871	Abnormality of blood and blood-forming tissues	2155	F7	ORPHA:327
HP:0001871	Abnormality of blood and blood-forming tissues	22827	PUF60	ORPHA:508488
HP:0001871	Abnormality of blood and blood-forming tissues	538	ATP7A	ORPHA:565
HP:0001871	Abnormality of blood and blood-forming tissues	1499	CTNNB1	ORPHA:873
HP:0001871	Abnormality of blood and blood-forming tissues	324	APC	ORPHA:873
HP:0001871	Abnormality of blood and blood-forming tissues	6390	SDHB	ORPHA:97286
HP:0001871	Abnormality of blood and blood-forming tissues	6390	SDHB	ORPHA:44890
HP:0001871	Abnormality of blood and blood-forming tissues	6391	SDHC	ORPHA:97286
HP:0001871	Abnormality of blood and blood-forming tissues	6391	SDHC	ORPHA:44890
HP:0001871	Abnormality of blood and blood-forming tissues	6392	SDHD	ORPHA:97286
HP:0001871	Abnormality of blood and blood-forming tissues	11277	TREX1	OMIM:192315
HP:0001871	Abnormality of blood and blood-forming tissues	11277	TREX1	ORPHA:247691
HP:0001871	Abnormality of blood and blood-forming tissues	1493	CTLA4	ORPHA:900
HP:0001871	Abnormality of blood and blood-forming tissues	3115	HLA-DPB1	ORPHA:900
HP:0001871	Abnormality of blood and blood-forming tissues	5657	PRTN3	ORPHA:900
HP:0001871	Abnormality of blood and blood-forming tissues	3113	HLA-DPA1	ORPHA:900
HP:0001871	Abnormality of blood and blood-forming tissues	493856	CISD2	ORPHA:3463
HP:0001871	Abnormality of blood and blood-forming tissues	7466	WFS1	ORPHA:3463
HP:0001871	Abnormality of blood and blood-forming tissues	4598	MVK	ORPHA:343
HP:0001871	Abnormality of blood and blood-forming tissues	2243	FGA	ORPHA:98881
HP:0001871	Abnormality of blood and blood-forming tissues	2243	FGA	ORPHA:101041
HP:0001871	Abnormality of blood and blood-forming tissues	2244	FGB	ORPHA:98881
HP:0001871	Abnormality of blood and blood-forming tissues	2244	FGB	ORPHA:101041
HP:0001871	Abnormality of blood and blood-forming tissues	2266	FGG	ORPHA:98881
HP:0001871	Abnormality of blood and blood-forming tissues	2266	FGG	ORPHA:101041
HP:0001871	Abnormality of blood and blood-forming tissues	5054	SERPINE1	ORPHA:465
HP:0001871	Abnormality of blood and blood-forming tissues	368	ABCC6	OMIM:177850
HP:0001871	Abnormality of blood and blood-forming tissues	368	ABCC6	OMIM:264800
HP:0001871	Abnormality of blood and blood-forming tissues	368	ABCC6	ORPHA:758
HP:0001871	Abnormality of blood and blood-forming tissues	64131	XYLT1	OMIM:264800
HP:0001871	Abnormality of blood and blood-forming tissues	64132	XYLT2	OMIM:264800
HP:0001871	Abnormality of blood and blood-forming tissues	11231	SEC63	ORPHA:2924
HP:0001871	Abnormality of blood and blood-forming tissues	5589	PRKCSH	ORPHA:2924
HP:0001871	Abnormality of blood and blood-forming tissues	4041	LRP5	ORPHA:2924
HP:0001871	Abnormality of blood and blood-forming tissues	10165	SLC25A13	ORPHA:247598
HP:0001871	Abnormality of blood and blood-forming tissues	3662	IRF4	ORPHA:3452
HP:0001871	Abnormality of blood and blood-forming tissues	3516	RBPJ	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	4851	NOTCH1	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	57514	ARHGAP31	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	57572	DOCK6	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	285203	EOGT	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	54567	DLL4	ORPHA:974
HP:0001871	Abnormality of blood and blood-forming tissues	3673	ITGA2	ORPHA:853
HP:0001871	Abnormality of blood and blood-forming tissues	135228	CD109	ORPHA:853
HP:0001871	Abnormality of blood and blood-forming tissues	199221	DZIP1L	ORPHA:731
HP:0001871	Abnormality of blood and blood-forming tissues	5314	PKHD1	ORPHA:731
HP:0001871	Abnormality of blood and blood-forming tissues	2658	GDF2	ORPHA:774
HP:0001871	Abnormality of blood and blood-forming tissues	94	ACVRL1	ORPHA:774
HP:0001871	Abnormality of blood and blood-forming tissues	4089	SMAD4	ORPHA:774
HP:0001871	Abnormality of blood and blood-forming tissues	6389	SDHA	ORPHA:44890
HP:0001871	Abnormality of blood and blood-forming tissues	5156	PDGFRA	ORPHA:44890
HP:0001871	Abnormality of blood and blood-forming tissues	3815	KIT	ORPHA:44890
HP:0001871	Abnormality of blood and blood-forming tissues	79651	RHBDF2	ORPHA:2198
HP:0001871	Abnormality of blood and blood-forming tissues	2184	FAH	OMIM:276700
HP:0001871	Abnormality of blood and blood-forming tissues	6794	STK11	ORPHA:2869
HP:0001871	Abnormality of blood and blood-forming tissues	5167	ENPP1	ORPHA:758
HP:0001871	Abnormality of blood and blood-forming tissues	8328	GFI1B	OMIM:187900
HP:0001871	Abnormality of blood and blood-forming tissues	9968	MED12	OMIM:301068
HP:0001871	Abnormality of blood and blood-forming tissues	64135	IFIH1	OMIM:615846
HP:0001871	Abnormality of blood and blood-forming tissues	6720	SREBF1	OMIM:158310
HP:0001871	Abnormality of blood and blood-forming tissues	4221	MEN1	ORPHA:652
HP:0001871	Abnormality of blood and blood-forming tissues	1027	CDKN1B	ORPHA:652
HP:0001871	Abnormality of blood and blood-forming tissues	1026	CDKN1A	ORPHA:652
HP:0001871	Abnormality of blood and blood-forming tissues	1030	CDKN2B	ORPHA:652
HP:0001871	Abnormality of blood and blood-forming tissues	1031	CDKN2C	ORPHA:652
HP:0001871	Abnormality of blood and blood-forming tissues	1616	DAXX	ORPHA:100075
HP:0001871	Abnormality of blood and blood-forming tissues	5566	PRKACA	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	5567	PRKACB	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	2735	GLI1	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	2121	EVC	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	51626	DYNC2LI1	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	132884	EVC2	ORPHA:289
HP:0001871	Abnormality of blood and blood-forming tissues	546	ATRX	ORPHA:231401
HP:0001871	Abnormality of blood and blood-forming tissues	412	STS	ORPHA:281090
HP:0001871	Abnormality of blood and blood-forming tissues	7456	WIPF1	ORPHA:906
HP:0001871	Abnormality of blood and blood-forming tissues	7518	XRCC4	ORPHA:99812
HP:0001871	Abnormality of blood and blood-forming tissues	3981	LIG4	ORPHA:99812
HP:0001871	Abnormality of blood and blood-forming tissues	7305	TYROBP	ORPHA:2770
HP:0001871	Abnormality of blood and blood-forming tissues	54209	TREM2	ORPHA:2770
HP:0001871	Abnormality of blood and blood-forming tissues	9487	PIGL	ORPHA:3474
HP:0001871	Abnormality of blood and blood-forming tissues	57551	TAOK1	OMIM:619575
HP:0001871	Abnormality of blood and blood-forming tissues	3587	IL10RA	OMIM:613148
HP:0001871	Abnormality of blood and blood-forming tissues	8438	RAD54L	OMIM:605027
HP:0001871	Abnormality of blood and blood-forming tissues	25788	RAD54B	OMIM:605027
HP:0001871	Abnormality of blood and blood-forming tissues	1776	DNASE1L3	ORPHA:36412
HP:0001871	Abnormality of blood and blood-forming tissues	596	BCL2	ORPHA:545
HP:0001871	Abnormality of blood and blood-forming tissues	604	BCL6	ORPHA:545
HP:0001871	Abnormality of blood and blood-forming tissues	8626	TP63	ORPHA:1896
HP:0001871	Abnormality of blood and blood-forming tissues	284119	CAVIN1	OMIM:613327
HP:0001871	Abnormality of blood and blood-forming tissues	917	CD3G	OMIM:615607
HP:0001871	Abnormality of blood and blood-forming tissues	6909	TBX2	OMIM:618223
HP:0001871	Abnormality of blood and blood-forming tissues	958	CD40	OMIM:606843
HP:0001871	Abnormality of blood and blood-forming tissues	57511	COG6	OMIM:614576
HP:0001871	Abnormality of blood and blood-forming tissues	51604	PIGT	ORPHA:369837
HP:0001871	Abnormality of blood and blood-forming tissues	3570	IL6R	OMIM:618944
HP:0001871	Abnormality of blood and blood-forming tissues	7555	CNBP	OMIM:602668
HP:0001871	Abnormality of blood and blood-forming tissues	5336	PLCG2	OMIM:614878
HP:0001871	Abnormality of blood and blood-forming tissues	28956	LAMTOR2	OMIM:610798
HP:0001871	Abnormality of blood and blood-forming tissues	7841	MOGS	ORPHA:79330
HP:0001871	Abnormality of blood and blood-forming tissues	23387	SIK3	OMIM:618162
HP:0001871	Abnormality of blood and blood-forming tissues	537	ATP6AP1	OMIM:300972
HP:0001871	Abnormality of blood and blood-forming tissues	10625	IVNS1ABP	OMIM:618969
HP:0001871	Abnormality of blood and blood-forming tissues	5426	POLE	OMIM:615139
HP:0001871	Abnormality of blood and blood-forming tissues	81704	DOCK8	OMIM:243700
HP:0001871	Abnormality of blood and blood-forming tissues	8883	NAE1	OMIM:620210
HP:0001871	Abnormality of blood and blood-forming tissues	9837	GINS1	OMIM:617827
HP:0001871	Abnormality of blood and blood-forming tissues	2782	GNB1	OMIM:614286
HP:0001871	Abnormality of blood and blood-forming tissues	162417	NAGS	ORPHA:927
HP:0001871	Abnormality of blood and blood-forming tissues	1441	CSF3R	OMIM:162830
HP:0001871	Abnormality of blood and blood-forming tissues	9184	BUB3	ORPHA:1052
HP:0001871	Abnormality of blood and blood-forming tissues	699	BUB1	ORPHA:1052
HP:0001871	Abnormality of blood and blood-forming tissues	9702	CEP57	ORPHA:1052
HP:0001871	Abnormality of blood and blood-forming tissues	9319	TRIP13	ORPHA:1052
HP:0001871	Abnormality of blood and blood-forming tissues	10456	HAX1	OMIM:610738
HP:0001871	Abnormality of blood and blood-forming tissues	745	MYRF	OMIM:618280
HP:0001871	Abnormality of blood and blood-forming tissues	54453	RIN2	OMIM:613075
HP:0001871	Abnormality of blood and blood-forming tissues	90993	CREB3L1	OMIM:616229
HP:0001871	Abnormality of blood and blood-forming tissues	9719	ADAMTSL2	ORPHA:1901
HP:0001871	Abnormality of blood and blood-forming tissues	9790	BMS1	ORPHA:1114
HP:0001871	Abnormality of blood and blood-forming tissues	10054	UBA2	ORPHA:1114
HP:0001871	Abnormality of blood and blood-forming tissues	5605	MAP2K2	ORPHA:638
HP:0001871	Abnormality of blood and blood-forming tissues	7450	VWF	OMIM:193400
HP:0001871	Abnormality of blood and blood-forming tissues	7450	VWF	OMIM:277480
HP:0001871	Abnormality of blood and blood-forming tissues	3998	LMAN1	OMIM:227300
HP:0001871	Abnormality of blood and blood-forming tissues	3998	LMAN1	ORPHA:35909
HP:0001871	Abnormality of blood and blood-forming tissues	90411	MCFD2	ORPHA:35909
HP:0001871	Abnormality of blood and blood-forming tissues	90411	MCFD2	OMIM:613625
HP:0001871	Abnormality of blood and blood-forming tissues	6654	SOS1	OMIM:610733
HP:0001871	Abnormality of blood and blood-forming tissues	9652	SKIC3	ORPHA:84064
HP:0001871	Abnormality of blood and blood-forming tissues	6499	SKIC2	ORPHA:84064
HP:0001871	Abnormality of blood and blood-forming tissues	50615	IL21R	OMIM:615207
HP:0001871	Abnormality of blood and blood-forming tissues	3431	SP110	ORPHA:79124
HP:0001871	Abnormality of blood and blood-forming tissues	4688	NCF2	OMIM:233710
HP:0001871	Abnormality of blood and blood-forming tissues	79415	CYBC1	OMIM:618935
HP:0001871	Abnormality of blood and blood-forming tissues	1536	CYBB	OMIM:306400
HP:0001871	Abnormality of blood and blood-forming tissues	653361	NCF1	OMIM:233700
HP:0001871	Abnormality of blood and blood-forming tissues	1535	CYBA	OMIM:233690
HP:0001871	Abnormality of blood and blood-forming tissues	1041	CDSN	ORPHA:90368
HP:0001871	Abnormality of blood and blood-forming tissues	1041	CDSN	OMIM:270300
HP:0001871	Abnormality of blood and blood-forming tissues	121391	KRT74	ORPHA:90368
HP:0001871	Abnormality of blood and blood-forming tissues	3857	KRT9	OMIM:144200
HP:0001871	Abnormality of blood and blood-forming tissues	7297	TYK2	OMIM:611521
HP:0001871	Abnormality of blood and blood-forming tissues	84905	ZNF341	OMIM:618282
HP:0001871	Abnormality of blood and blood-forming tissues	2239	GPC4	ORPHA:373
HP:0001871	Abnormality of blood and blood-forming tissues	2719	GPC3	ORPHA:373
HP:0001871	Abnormality of blood and blood-forming tissues	7941	PLA2G7	OMIM:147050
HP:0001871	Abnormality of blood and blood-forming tissues	3566	IL4R	OMIM:147050
HP:0001871	Abnormality of blood and blood-forming tissues	2206	MS4A2	OMIM:147050
HP:0001871	Abnormality of blood and blood-forming tissues	1956	EGFR	OMIM:616069
HP:0001871	Abnormality of blood and blood-forming tissues	6868	ADAM17	OMIM:614328
HP:0001871	Abnormality of blood and blood-forming tissues	1828	DSG1	OMIM:615508
HP:0001871	Abnormality of blood and blood-forming tissues	25839	COG4	ORPHA:263501
HP:0001871	Abnormality of blood and blood-forming tissues	1650	DDOST	ORPHA:300536
HP:0001871	Abnormality of blood and blood-forming tissues	51241	COX16	OMIM:619355
HP:0001871	Abnormality of blood and blood-forming tissues	9526	MPDU1	OMIM:609180
HP:0001871	Abnormality of blood and blood-forming tissues	779	CACNA1S	ORPHA:423
HP:0001871	Abnormality of blood and blood-forming tissues	3028	HSD17B10	ORPHA:391457
HP:0001871	Abnormality of blood and blood-forming tissues	22796	COG2	ORPHA:435934
HP:0001871	Abnormality of blood and blood-forming tissues	84947	SERAC1	OMIM:614739
HP:0001871	Abnormality of blood and blood-forming tissues	10166	SLC25A15	ORPHA:415
HP:0001871	Abnormality of blood and blood-forming tissues	4247	MGAT2	ORPHA:79329
HP:0001871	Abnormality of blood and blood-forming tissues	7454	WAS	OMIM:301000
HP:0001871	Abnormality of blood and blood-forming tissues	6772	STAT1	OMIM:614162
HP:0001871	Abnormality of blood and blood-forming tissues	3718	JAK3	OMIM:600802
HP:0001871	Abnormality of blood and blood-forming tissues	3718	JAK3	ORPHA:35078
HP:0001871	Abnormality of blood and blood-forming tissues	57217	TTC7A	OMIM:243150
HP:0001871	Abnormality of blood and blood-forming tissues	55388	MCM10	OMIM:619313
HP:0001871	Abnormality of blood and blood-forming tissues	3561	IL2RG	OMIM:300400
HP:0001871	Abnormality of blood and blood-forming tissues	4615	MYD88	OMIM:153600
HP:0001871	Abnormality of blood and blood-forming tissues	5971	RELB	OMIM:617585
HP:0001871	Abnormality of blood and blood-forming tissues	5788	PTPRC	OMIM:619924
HP:0001871	Abnormality of blood and blood-forming tissues	6023	RMRP	OMIM:250250
HP:0001871	Abnormality of blood and blood-forming tissues	7535	ZAP70	OMIM:617006
HP:0001871	Abnormality of blood and blood-forming tissues	64919	BCL11B	OMIM:617237
HP:0001871	Abnormality of blood and blood-forming tissues	200942	KLHDC8B	OMIM:236000
HP:0001871	Abnormality of blood and blood-forming tissues	3594	IL12RB1	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	23534	TNPO3	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	6689	SPIB	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	5450	POU2AF1	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	9966	TNFSF15	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	79258	MMEL1	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	3663	IRF5	ORPHA:186
HP:0001871	Abnormality of blood and blood-forming tissues	388552	BLOC1S3	OMIM:614077
HP:0001871	Abnormality of blood and blood-forming tissues	5321	PLA2G4A	OMIM:618372
HP:0001871	Abnormality of blood and blood-forming tissues	3758	KCNJ1	OMIM:241200
HP:0001871	Abnormality of blood and blood-forming tissues	2048	EPHB2	OMIM:618462
HP:0001871	Abnormality of blood and blood-forming tissues	84062	DTNBP1	OMIM:614076
HP:0001871	Abnormality of blood and blood-forming tissues	81027	TUBB1	OMIM:613112
HP:0001871	Abnormality of blood and blood-forming tissues	1729	DIAPH1	OMIM:124900
HP:0001871	Abnormality of blood and blood-forming tissues	10128	LRPPRC	OMIM:220111
HP:0001871	Abnormality of blood and blood-forming tissues	2627	GATA6	ORPHA:2255
HP:0001871	Abnormality of blood and blood-forming tissues	79868	ALG13	OMIM:300884
HP:0001871	Abnormality of blood and blood-forming tissues	3818	KLKB1	OMIM:612423
HP:0001871	Abnormality of blood and blood-forming tissues	5825	ABCD3	OMIM:616278
HP:0001871	Abnormality of blood and blood-forming tissues	8985	PLOD3	OMIM:612394
HP:0001871	Abnormality of blood and blood-forming tissues	26276	VPS33B	OMIM:620010
HP:0001871	Abnormality of blood and blood-forming tissues	6445	SGCG	ORPHA:353
HP:0001871	Abnormality of blood and blood-forming tissues	83483	PLVAP	OMIM:618183
HP:0001871	Abnormality of blood and blood-forming tissues	10525	HYOU1	OMIM:233600
HP:0001871	Abnormality of blood and blood-forming tissues	10111	RAD50	OMIM:613078
HP:0001871	Abnormality of blood and blood-forming tissues	9839	ZEB2	ORPHA:261552
HP:0001871	Abnormality of blood and blood-forming tissues	9839	ZEB2	ORPHA:261537
HP:0001871	Abnormality of blood and blood-forming tissues	4478	MSN	OMIM:300988
HP:0001871	Abnormality of blood and blood-forming tissues	9508	ADAMTS3	ORPHA:2136
HP:0001871	Abnormality of blood and blood-forming tissues	147372	CCBE1	ORPHA:2136
HP:0001871	Abnormality of blood and blood-forming tissues	79633	FAT4	ORPHA:2136
HP:0001871	Abnormality of blood and blood-forming tissues	4780	NFE2L2	OMIM:617744
HP:0001871	Abnormality of blood and blood-forming tissues	4796	TONSL	OMIM:271510
HP:0001871	Abnormality of blood and blood-forming tissues	1457	CSNK2A1	OMIM:617062
HP:0001871	Abnormality of blood and blood-forming tissues	57379	AICDA	OMIM:605258
HP:0001871	Abnormality of blood and blood-forming tissues	59067	IL21	OMIM:615767
HP:0001871	Abnormality of blood and blood-forming tissues	7374	UNG	OMIM:608106
HP:0001871	Abnormality of blood and blood-forming tissues	8884	SLC5A6	OMIM:618973
HP:0001871	Abnormality of blood and blood-forming tissues	84888	SPPL2A	OMIM:619549
HP:0001871	Abnormality of blood and blood-forming tissues	84343	HPS3	OMIM:614072
HP:0001871	Abnormality of blood and blood-forming tissues	2629	GBA1	ORPHA:2072
HP:0001871	Abnormality of blood and blood-forming tissues	4627	MYH9	ORPHA:182050
HP:0001871	Abnormality of blood and blood-forming tissues	1130	LYST	OMIM:214500
HP:0001871	Abnormality of blood and blood-forming tissues	6714	SRC	OMIM:616937
HP:0001871	Abnormality of blood and blood-forming tissues	9692	PRORP	OMIM:619737
HP:0001871	Abnormality of blood and blood-forming tissues	7042	TGFB2	OMIM:614816
HP:0001871	Abnormality of blood and blood-forming tissues	2162	F13A1	OMIM:188050
HP:0001871	Abnormality of blood and blood-forming tissues	3026	HABP2	OMIM:188050
HP:0001871	Abnormality of blood and blood-forming tissues	4524	MTHFR	OMIM:188050
HP:0001871	Abnormality of blood and blood-forming tissues	26191	PTPN22	ORPHA:397
HP:0001871	Abnormality of blood and blood-forming tissues	3106	HLA-B	ORPHA:397
HP:0001871	Abnormality of blood and blood-forming tissues	3106	HLA-B	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	3123	HLA-DRB1	ORPHA:397
HP:0001871	Abnormality of blood and blood-forming tissues	8974	P4HA2	ORPHA:397
HP:0001871	Abnormality of blood and blood-forming tissues	7066	THPO	ORPHA:71493
HP:0001871	Abnormality of blood and blood-forming tissues	875	CBS	ORPHA:394
HP:0001871	Abnormality of blood and blood-forming tissues	4625	MYH7	ORPHA:1880
HP:0001871	Abnormality of blood and blood-forming tissues	462	SERPINC1	ORPHA:82
HP:0001871	Abnormality of blood and blood-forming tissues	9103	FCGR2C	ORPHA:3002
HP:0001871	Abnormality of blood and blood-forming tissues	2147	F2	ORPHA:325
HP:0001871	Abnormality of blood and blood-forming tissues	5627	PROS1	ORPHA:743
HP:0001871	Abnormality of blood and blood-forming tissues	5627	PROS1	OMIM:614514
HP:0001871	Abnormality of blood and blood-forming tissues	5627	PROS1	OMIM:612336
HP:0001871	Abnormality of blood and blood-forming tissues	5728	PTEN	ORPHA:744
HP:0001871	Abnormality of blood and blood-forming tissues	207	AKT1	ORPHA:744
HP:0001871	Abnormality of blood and blood-forming tissues	5277	PIGA	ORPHA:447
HP:0001871	Abnormality of blood and blood-forming tissues	149233	IL23R	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	6775	STAT4	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	3586	IL10	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	4210	MEFV	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	1230	CCR1	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	3592	IL12A	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	101928376	IL12A-AS1	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	7099	TLR4	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	3459	IFNGR1	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	720	C4A	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	337867	UBAC2	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	51752	ERAP1	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	8302	KLRC4	ORPHA:117
HP:0001871	Abnormality of blood and blood-forming tissues	695	BTK	ORPHA:47
HP:0001871	Abnormality of blood and blood-forming tissues	695	BTK	OMIM:300755
HP:0001871	Abnormality of blood and blood-forming tissues	30011	SH3KBP1	OMIM:300310
HP:0001871	Abnormality of blood and blood-forming tissues	3551	IKBKB	OMIM:615592
HP:0001871	Abnormality of blood and blood-forming tissues	7922	SLC39A7	OMIM:619693
HP:0001871	Abnormality of blood and blood-forming tissues	5295	PIK3R1	OMIM:615214
HP:0001871	Abnormality of blood and blood-forming tissues	5295	PIK3R1	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	4261	CIITA	OMIM:209920
HP:0001871	Abnormality of blood and blood-forming tissues	5994	RFXAP	OMIM:209920
HP:0001871	Abnormality of blood and blood-forming tissues	5993	RFX5	OMIM:209920
HP:0001871	Abnormality of blood and blood-forming tissues	8625	RFXANK	OMIM:209920
HP:0001871	Abnormality of blood and blood-forming tissues	6929	TCF3	OMIM:616941
HP:0001871	Abnormality of blood and blood-forming tissues	6929	TCF3	OMIM:619824
HP:0001871	Abnormality of blood and blood-forming tissues	6929	TCF3	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	3507	IGHM	OMIM:601495
HP:0001871	Abnormality of blood and blood-forming tissues	3507	IGHM	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	1678	TIMM8A	ORPHA:52368
HP:0001871	Abnormality of blood and blood-forming tissues	974	CD79B	OMIM:612692
HP:0001871	Abnormality of blood and blood-forming tissues	974	CD79B	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	96459	FNIP1	OMIM:619705
HP:0001871	Abnormality of blood and blood-forming tissues	6688	SPI1	OMIM:619707
HP:0001871	Abnormality of blood and blood-forming tissues	973	CD79A	OMIM:613501
HP:0001871	Abnormality of blood and blood-forming tissues	973	CD79A	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	3543	IGLL1	OMIM:613500
HP:0001871	Abnormality of blood and blood-forming tissues	3543	IGLL1	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	3070	HELLS	OMIM:616911
HP:0001871	Abnormality of blood and blood-forming tissues	84433	CARD11	OMIM:615206
HP:0001871	Abnormality of blood and blood-forming tissues	83879	CDCA7	OMIM:616910
HP:0001871	Abnormality of blood and blood-forming tissues	29760	BLNK	OMIM:613502
HP:0001871	Abnormality of blood and blood-forming tissues	29760	BLNK	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	56262	LRRC8A	OMIM:613506
HP:0001871	Abnormality of blood and blood-forming tissues	56262	LRRC8A	ORPHA:33110
HP:0001871	Abnormality of blood and blood-forming tissues	6651	SON	ORPHA:500150
HP:0001871	Abnormality of blood and blood-forming tissues	286	ANK1	ORPHA:251066
HP:0001871	Abnormality of blood and blood-forming tissues	286	ANK1	OMIM:182900
HP:0001871	Abnormality of blood and blood-forming tissues	286	ANK1	ORPHA:822
HP:0001871	Abnormality of blood and blood-forming tissues	2038	EPB42	OMIM:612690
HP:0001871	Abnormality of blood and blood-forming tissues	2038	EPB42	ORPHA:822
HP:0001871	Abnormality of blood and blood-forming tissues	9949	AMMECR1	OMIM:300990
HP:0001871	Abnormality of blood and blood-forming tissues	9949	AMMECR1	ORPHA:86818
HP:0001871	Abnormality of blood and blood-forming tissues	23630	KCNE5	ORPHA:86818
HP:0001871	Abnormality of blood and blood-forming tissues	2182	ACSL4	ORPHA:86818
HP:0001871	Abnormality of blood and blood-forming tissues	374354	NHLRC2	OMIM:618278
HP:0001871	Abnormality of blood and blood-forming tissues	51095	TRNT1	OMIM:616959
HP:0001871	Abnormality of blood and blood-forming tissues	760	CA2	ORPHA:2785
HP:0001871	Abnormality of blood and blood-forming tissues	2035	EPB41	ORPHA:288
HP:0001871	Abnormality of blood and blood-forming tissues	2995	GYPC	ORPHA:288
HP:0001871	Abnormality of blood and blood-forming tissues	6710	SPTB	ORPHA:288
HP:0001871	Abnormality of blood and blood-forming tissues	6708	SPTA1	ORPHA:288
HP:0001871	Abnormality of blood and blood-forming tissues	6005	RHAG	OMIM:185000
HP:0001871	Abnormality of blood and blood-forming tissues	6005	RHAG	OMIM:268150
HP:0001871	Abnormality of blood and blood-forming tissues	6005	RHAG	ORPHA:3203
HP:0001871	Abnormality of blood and blood-forming tissues	6005	RHAG	ORPHA:71275
HP:0001871	Abnormality of blood and blood-forming tissues	2811	GP1BA	OMIM:153670
HP:0001871	Abnormality of blood and blood-forming tissues	6513	SLC2A1	OMIM:608885
HP:0001871	Abnormality of blood and blood-forming tissues	6513	SLC2A1	ORPHA:168577
HP:0001871	Abnormality of blood and blood-forming tissues	2623	GATA1	OMIM:301083
HP:0001871	Abnormality of blood and blood-forming tissues	6521	SLC4A1	OMIM:185020
HP:0001871	Abnormality of blood and blood-forming tissues	10058	ABCB6	ORPHA:90044
HP:0001871	Abnormality of blood and blood-forming tissues	6006	RHCE	ORPHA:71275
HP:0001871	Abnormality of blood and blood-forming tissues	6007	RHD	ORPHA:71275
HP:0001871	Abnormality of blood and blood-forming tissues	64241	ABCG8	OMIM:210250
HP:0001871	Abnormality of blood and blood-forming tissues	9493	KIF23	ORPHA:98870
HP:0001871	Abnormality of blood and blood-forming tissues	164656	TMPRSS6	OMIM:206200
HP:0001871	Abnormality of blood and blood-forming tissues	10661	KLF1	OMIM:613673
HP:0001871	Abnormality of blood and blood-forming tissues	8573	CASK	OMIM:300908
HP:0001871	Abnormality of blood and blood-forming tissues	2539	G6PD	OMIM:300908
HP:0001871	Abnormality of blood and blood-forming tissues	55240	STEAP3	OMIM:615234
HP:0001871	Abnormality of blood and blood-forming tissues	7372	UMPS	OMIM:258900
HP:0001871	Abnormality of blood and blood-forming tissues	1861	TOR1A	OMIM:618947
HP:0001871	Abnormality of blood and blood-forming tissues	84529	CDIN1	OMIM:615631
HP:0001871	Abnormality of blood and blood-forming tissues	811	CALR	ORPHA:824
HP:0001871	Abnormality of blood and blood-forming tissues	4352	MPL	ORPHA:824
HP:0001871	Abnormality of blood and blood-forming tissues	3717	JAK2	ORPHA:824
HP:0001871	Abnormality of blood and blood-forming tissues	7390	UROS	ORPHA:79277
HP:0001871	Abnormality of blood and blood-forming tissues	5313	PKLR	ORPHA:766
HP:0001871	Abnormality of blood and blood-forming tissues	26511	CHIC2	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	8021	NUP214	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	1050	CEBPA	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	2322	FLT3	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	6455	SH3GL1	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	8028	MLLT10	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	8301	PICALM	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	4026	LPP	OMIM:601626
HP:0001871	Abnormality of blood and blood-forming tissues	8930	MBD4	OMIM:619975
HP:0001871	Abnormality of blood and blood-forming tissues	2936	GSR	OMIM:618660
HP:0001871	Abnormality of blood and blood-forming tissues	205327	C2orf69	OMIM:619423
HP:0001871	Abnormality of blood and blood-forming tissues	3162	HMOX1	OMIM:614034
HP:0001871	Abnormality of blood and blood-forming tissues	7293	TNFRSF4	OMIM:615593
HP:0001871	Abnormality of blood and blood-forming tissues	161742	SPRED1	ORPHA:137605
HP:0001871	Abnormality of blood and blood-forming tissues	113235	SLC46A1	OMIM:229050
HP:0001871	Abnormality of blood and blood-forming tissues	92579	G6PC3	OMIM:612541
HP:0001871	Abnormality of blood and blood-forming tissues	9948	WDR1	OMIM:150550
HP:0001871	Abnormality of blood and blood-forming tissues	7037	TFRC	OMIM:616740
HP:0001871	Abnormality of blood and blood-forming tissues	1798	DPAGT1	ORPHA:86309
HP:0001871	Abnormality of blood and blood-forming tissues	131118	DNAJC19	OMIM:610198
HP:0001871	Abnormality of blood and blood-forming tissues	131118	DNAJC19	ORPHA:66634
HP:0001871	Abnormality of blood and blood-forming tissues	2122	MECOM	ORPHA:71289
HP:0001871	Abnormality of blood and blood-forming tissues	3207	HOXA11	ORPHA:71289
HP:0001871	Abnormality of blood and blood-forming tissues	3207	HOXA11	OMIM:605432
HP:0001871	Abnormality of blood and blood-forming tissues	5604	MAP2K1	OMIM:163950
HP:0001871	Abnormality of blood and blood-forming tissues	5781	PTPN11	OMIM:163950
HP:0001871	Abnormality of blood and blood-forming tissues	10560	SLC19A2	OMIM:249270
HP:0001871	Abnormality of blood and blood-forming tissues	2876	GPX1	OMIM:614164
HP:0001871	Abnormality of blood and blood-forming tissues	64376	IKZF5	OMIM:619130
HP:0001871	Abnormality of blood and blood-forming tissues	11234	HPS5	OMIM:614074
HP:0001871	Abnormality of blood and blood-forming tissues	87	ACTN1	OMIM:615193
HP:0001871	Abnormality of blood and blood-forming tissues	79803	HPS6	OMIM:614075
HP:0001871	Abnormality of blood and blood-forming tissues	10235	RASGRP2	OMIM:615888
HP:0001871	Abnormality of blood and blood-forming tissues	64805	P2RY12	OMIM:609821
HP:0001871	Abnormality of blood and blood-forming tissues	8546	AP3B1	OMIM:608233
HP:0001871	Abnormality of blood and blood-forming tissues	7167	TPI1	OMIM:615512
HP:0001871	Abnormality of blood and blood-forming tissues	6288	SAA1	ORPHA:85445
HP:0001871	Abnormality of blood and blood-forming tissues	5144	PDE4D	ORPHA:280651
HP:0001871	Abnormality of blood and blood-forming tissues	5236	PGM1	OMIM:614921
HP:0001871	Abnormality of blood and blood-forming tissues	100	ADA	ORPHA:277
HP:0001871	Abnormality of blood and blood-forming tissues	472	ATM	OMIM:208900
HP:0001871	Abnormality of blood and blood-forming tissues	64421	DCLRE1C	OMIM:603554
HP:0001871	Abnormality of blood and blood-forming tissues	5557	PRIM1	OMIM:620005
HP:0001871	Abnormality of blood and blood-forming tissues	4791	NFKB2	ORPHA:293978
HP:0001871	Abnormality of blood and blood-forming tissues	4860	PNP	OMIM:613179
HP:0001871	Abnormality of blood and blood-forming tissues	841	CASP8	OMIM:607271
HP:0001871	Abnormality of blood and blood-forming tissues	3574	IL7	OMIM:618309
HP:0001871	Abnormality of blood and blood-forming tissues	3071	NCKAP1L	OMIM:618982
HP:0001871	Abnormality of blood and blood-forming tissues	9094	UNC119	OMIM:615518
HP:0001871	Abnormality of blood and blood-forming tissues	3953	LEPR	ORPHA:179494
HP:0001871	Abnormality of blood and blood-forming tissues	3952	LEP	ORPHA:66628
HP:0001871	Abnormality of blood and blood-forming tissues	100151683	RNU4ATAC	ORPHA:353298
HP:0001871	Abnormality of blood and blood-forming tissues	146206	CARMIL2	OMIM:618131
HP:0001871	Abnormality of blood and blood-forming tissues	925	CD8A	OMIM:608957
HP:0001871	Abnormality of blood and blood-forming tissues	55630	SLC39A4	OMIM:201100
HP:0001871	Abnormality of blood and blood-forming tissues	9993	DGCR2	OMIM:192430
HP:0001871	Abnormality of blood and blood-forming tissues	8220	ESS2	OMIM:192430
HP:0001871	Abnormality of blood and blood-forming tissues	8214	DGCR6	OMIM:192430
HP:0001871	Abnormality of blood and blood-forming tissues	54487	DGCR8	OMIM:192430
HP:0001871	Abnormality of blood and blood-forming tissues	1356	CP	ORPHA:48818
HP:0001871	Abnormality of blood and blood-forming tissues	657	BMPR1A	ORPHA:79076
HP:0001871	Abnormality of blood and blood-forming tissues	657	BMPR1A	ORPHA:157794
HP:0001871	Abnormality of blood and blood-forming tissues	26585	GREM1	ORPHA:157794
HP:0001871	Abnormality of blood and blood-forming tissues	25	ABL1	OMIM:608232
HP:0001871	Abnormality of blood and blood-forming tissues	613	BCR	OMIM:608232
HP:0001871	Abnormality of blood and blood-forming tissues	3040	HBA2	OMIM:140700
HP:0001871	Abnormality of blood and blood-forming tissues	3039	HBA1	OMIM:140700
HP:0001871	Abnormality of blood and blood-forming tissues	10019	SH2B3	ORPHA:3318
HP:0001871	Abnormality of blood and blood-forming tissues	7157	TP53	ORPHA:3318
HP:0001871	Abnormality of blood and blood-forming tissues	3978	LIG1	OMIM:619774
HP:0001871	Abnormality of blood and blood-forming tissues	2694	CBLIF	OMIM:261000
HP:0001871	Abnormality of blood and blood-forming tissues	3783	KCNN4	OMIM:616689
HP:0001871	Abnormality of blood and blood-forming tissues	3783	KCNN4	ORPHA:3202
HP:0001871	Abnormality of blood and blood-forming tissues	219285	SAMD9L	OMIM:252270
HP:0001871	Abnormality of blood and blood-forming tissues	27249	MMADHC	OMIM:277410
HP:0001871	Abnormality of blood and blood-forming tissues	1719	DHFR	OMIM:613839
HP:0001871	Abnormality of blood and blood-forming tissues	1854	DUT	OMIM:620044
HP:0001871	Abnormality of blood and blood-forming tissues	23395	LARS2	OMIM:617021
HP:0001871	Abnormality of blood and blood-forming tissues	29123	ANKRD11	ORPHA:261250
HP:0001871	Abnormality of blood and blood-forming tissues	2120	ETV6	OMIM:616216
HP:0001871	Abnormality of blood and blood-forming tissues	4552	MTRR	ORPHA:2169
HP:0001871	Abnormality of blood and blood-forming tissues	3572	IL6ST	OMIM:619751
HP:0001871	Abnormality of blood and blood-forming tissues	3988	LIPA	OMIM:278000
HP:0001871	Abnormality of blood and blood-forming tissues	5921	RASA1	ORPHA:90307
HP:0001871	Abnormality of blood and blood-forming tissues	6261	RYR1	ORPHA:466650
HP:0001871	Abnormality of blood and blood-forming tissues	6774	STAT3	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	5371	PML	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	5914	RARA	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	359948	IRF2BP2	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	81608	FIP1L1	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	5573	PRKAR1A	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	54880	BCOR	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	64859	NABP1	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	6777	STAT5B	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	4926	NUMA1	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	7704	ZBTB16	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	79718	TBL1XR1	ORPHA:520
HP:0001871	Abnormality of blood and blood-forming tissues	58484	NLRC4	OMIM:616050
HP:0001871	Abnormality of blood and blood-forming tissues	9054	NFS1	OMIM:619386
HP:0001871	Abnormality of blood and blood-forming tissues	3075	CFH	ORPHA:244242
HP:0001871	Abnormality of blood and blood-forming tissues	3426	CFI	ORPHA:244242
HP:0001871	Abnormality of blood and blood-forming tissues	4179	CD46	ORPHA:244242
HP:0001871	Abnormality of blood and blood-forming tissues	101101692	HELLPAR	ORPHA:244242
HP:0001871	Abnormality of blood and blood-forming tissues	3053	SERPIND1	OMIM:612356
HP:0001871	Abnormality of blood and blood-forming tissues	23175	LPIN1	ORPHA:99845
HP:0001871	Abnormality of blood and blood-forming tissues	4512	MT-CO1	ORPHA:99845
HP:0001871	Abnormality of blood and blood-forming tissues	4514	MT-CO3	ORPHA:99845
HP:0001871	Abnormality of blood and blood-forming tissues	55163	PNPO	ORPHA:79096
HP:0001871	Abnormality of blood and blood-forming tissues	672	BRCA1	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	7516	XRCC2	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	2175	FANCA	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	2187	FANCB	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	2178	FANCE	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	2189	FANCG	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	5889	RAD51C	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	55159	RFWD3	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	57697	FANCM	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	79728	PALB2	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	84464	SLX4	ORPHA:84
HP:0001871	Abnormality of blood and blood-forming tissues	970	CD70	OMIM:618261
HP:0001871	Abnormality of blood and blood-forming tissues	4893	NRAS	OMIM:614470
HP:0001871	Abnormality of blood and blood-forming tissues	84061	MAGT1	OMIM:300853
HP:0001871	Abnormality of blood and blood-forming tissues	939	CD27	OMIM:615122
HP:0001871	Abnormality of blood and blood-forming tissues	3702	ITK	OMIM:613011
HP:0001871	Abnormality of blood and blood-forming tissues	1503	CTPS1	OMIM:615897
HP:0001871	Abnormality of blood and blood-forming tissues	987	LRBA	OMIM:614700
HP:0001871	Abnormality of blood and blood-forming tissues	4173	MCM4	OMIM:609981
HP:0001871	Abnormality of blood and blood-forming tissues	2821	GPI	OMIM:613470
HP:0001871	Abnormality of blood and blood-forming tissues	3827	KNG1	OMIM:228960
HP:0001871	Abnormality of blood and blood-forming tissues	128	ADH5	OMIM:619151
HP:0001871	Abnormality of blood and blood-forming tissues	355	FAS	ORPHA:3261
HP:0001871	Abnormality of blood and blood-forming tissues	356	FASLG	ORPHA:3261
HP:0001871	Abnormality of blood and blood-forming tissues	5580	PRKCD	ORPHA:3261
HP:0001871	Abnormality of blood and blood-forming tissues	843	CASP10	ORPHA:3261
HP:0001871	Abnormality of blood and blood-forming tissues	10125	RASGRP1	ORPHA:3261
HP:0001871	Abnormality of blood and blood-forming tissues	26277	TINF2	OMIM:268130
HP:0001871	Abnormality of blood and blood-forming tissues	26277	TINF2	OMIM:127550
HP:0001871	Abnormality of blood and blood-forming tissues	26277	TINF2	OMIM:613990
HP:0001871	Abnormality of blood and blood-forming tissues	26277	TINF2	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	26277	TINF2	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	51750	RTEL1	OMIM:615190
HP:0001871	Abnormality of blood and blood-forming tissues	51750	RTEL1	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	51750	RTEL1	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	2072	ERCC4	OMIM:615272
HP:0001871	Abnormality of blood and blood-forming tissues	134218	DNAJC21	OMIM:617052
HP:0001871	Abnormality of blood and blood-forming tissues	134218	DNAJC21	ORPHA:811
HP:0001871	Abnormality of blood and blood-forming tissues	55651	NHP2	OMIM:224230
HP:0001871	Abnormality of blood and blood-forming tissues	55651	NHP2	OMIM:613987
HP:0001871	Abnormality of blood and blood-forming tissues	55651	NHP2	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	55505	NOP10	OMIM:224230
HP:0001871	Abnormality of blood and blood-forming tissues	55505	NOP10	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	OMIM:614742
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	OMIM:127550
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	OMIM:613989
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	OMIM:609135
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	ORPHA:88
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	7015	TERT	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	5238	PGM3	ORPHA:443811
HP:0001871	Abnormality of blood and blood-forming tissues	7012	TERC	OMIM:614743
HP:0001871	Abnormality of blood and blood-forming tissues	7012	TERC	OMIM:127550
HP:0001871	Abnormality of blood and blood-forming tissues	7012	TERC	ORPHA:88
HP:0001871	Abnormality of blood and blood-forming tissues	7012	TERC	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	1736	DKC1	OMIM:305000
HP:0001871	Abnormality of blood and blood-forming tissues	1736	DKC1	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	1736	DKC1	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	6916	TBXAS1	OMIM:231095
HP:0001871	Abnormality of blood and blood-forming tissues	375748	ERCC6L2	OMIM:615715
HP:0001871	Abnormality of blood and blood-forming tissues	81570	CLPB	ORPHA:445038
HP:0001871	Abnormality of blood and blood-forming tissues	2624	GATA2	ORPHA:3226
HP:0001871	Abnormality of blood and blood-forming tissues	2624	GATA2	ORPHA:98827
HP:0001871	Abnormality of blood and blood-forming tissues	54790	TET2	ORPHA:75564
HP:0001871	Abnormality of blood and blood-forming tissues	54790	TET2	ORPHA:98826
HP:0001871	Abnormality of blood and blood-forming tissues	23451	SF3B1	ORPHA:75564
HP:0001871	Abnormality of blood and blood-forming tissues	54809	SAMD9	OMIM:619041
HP:0001871	Abnormality of blood and blood-forming tissues	114803	MYSM1	ORPHA:508542
HP:0001871	Abnormality of blood and blood-forming tissues	114803	MYSM1	OMIM:618116
HP:0001871	Abnormality of blood and blood-forming tissues	79991	STN1	OMIM:617341
HP:0001871	Abnormality of blood and blood-forming tissues	55596	ZCCHC8	OMIM:618674
HP:0001871	Abnormality of blood and blood-forming tissues	6731	SRP72	OMIM:614675
HP:0001871	Abnormality of blood and blood-forming tissues	50485	SMARCAL1	ORPHA:1830
HP:0001871	Abnormality of blood and blood-forming tissues	55215	FANCI	OMIM:609053
HP:0001871	Abnormality of blood and blood-forming tissues	83990	BRIP1	OMIM:609054
HP:0001871	Abnormality of blood and blood-forming tissues	65082	VPS33A	OMIM:617303
HP:0001871	Abnormality of blood and blood-forming tissues	65082	VPS33A	ORPHA:505248
HP:0001871	Abnormality of blood and blood-forming tissues	6117	RPA1	OMIM:619767
HP:0001871	Abnormality of blood and blood-forming tissues	55135	WRAP53	OMIM:613988
HP:0001871	Abnormality of blood and blood-forming tissues	55135	WRAP53	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	4683	NBN	OMIM:609135
HP:0001871	Abnormality of blood and blood-forming tissues	5551	PRF1	OMIM:609135
HP:0001871	Abnormality of blood and blood-forming tissues	5551	PRF1	ORPHA:88
HP:0001871	Abnormality of blood and blood-forming tissues	51119	SBDS	OMIM:609135
HP:0001871	Abnormality of blood and blood-forming tissues	51119	SBDS	ORPHA:811
HP:0001871	Abnormality of blood and blood-forming tissues	51119	SBDS	ORPHA:88
HP:0001871	Abnormality of blood and blood-forming tissues	3458	IFNG	OMIM:609135
HP:0001871	Abnormality of blood and blood-forming tissues	3458	IFNG	ORPHA:88
HP:0001871	Abnormality of blood and blood-forming tissues	1186	CLCN7	OMIM:166600
HP:0001871	Abnormality of blood and blood-forming tissues	79631	EFL1	ORPHA:811
HP:0001871	Abnormality of blood and blood-forming tissues	6729	SRP54	ORPHA:811
HP:0001871	Abnormality of blood and blood-forming tissues	2188	FANCF	OMIM:603467
HP:0001871	Abnormality of blood and blood-forming tissues	675	BRCA2	OMIM:605724
HP:0001871	Abnormality of blood and blood-forming tissues	3930	LBR	OMIM:215140
HP:0001871	Abnormality of blood and blood-forming tissues	2177	FANCD2	OMIM:227646
HP:0001871	Abnormality of blood and blood-forming tissues	2176	FANCC	OMIM:227645
HP:0001871	Abnormality of blood and blood-forming tissues	55120	FANCL	OMIM:614083
HP:0001871	Abnormality of blood and blood-forming tissues	7040	TGFB1	OMIM:131300
HP:0001871	Abnormality of blood and blood-forming tissues	6208	RPS14	ORPHA:86841
HP:0001871	Abnormality of blood and blood-forming tissues	4194	MDM4	OMIM:618849
HP:0001871	Abnormality of blood and blood-forming tissues	65057	ACD	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	65057	ACD	OMIM:616553
HP:0001871	Abnormality of blood and blood-forming tissues	5073	PARN	ORPHA:3322
HP:0001871	Abnormality of blood and blood-forming tissues	5073	PARN	OMIM:616353
HP:0001871	Abnormality of blood and blood-forming tissues	5073	PARN	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	51311	TLR8	OMIM:301078
HP:0001871	Abnormality of blood and blood-forming tissues	2778	GNAS	ORPHA:562
HP:0001871	Abnormality of blood and blood-forming tissues	3712	IVD	OMIM:243500
HP:0001871	Abnormality of blood and blood-forming tissues	51428	DDX41	OMIM:616871
HP:0001871	Abnormality of blood and blood-forming tissues	5888	RAD51	OMIM:617244
HP:0001871	Abnormality of blood and blood-forming tissues	10459	MAD2L2	OMIM:617243
HP:0001871	Abnormality of blood and blood-forming tissues	57728	WDR19	OMIM:614378
HP:0001871	Abnormality of blood and blood-forming tissues	80169	CTC1	OMIM:612199
HP:0001871	Abnormality of blood and blood-forming tissues	80169	CTC1	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	79650	USB1	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	4869	NPM1	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	7298	TYMS	ORPHA:1775
HP:0001871	Abnormality of blood and blood-forming tissues	29089	UBE2T	OMIM:616435
HP:0001871	Abnormality of blood and blood-forming tissues	64858	DCLRE1B	OMIM:620133
HP:0001871	Abnormality of blood and blood-forming tissues	2313	FLI1	ORPHA:2308
HP:0001871	Abnormality of blood and blood-forming tissues	6135	RPL11	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6138	RPL15	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6229	RPS24	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6125	RPL5	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6204	RPS10	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6224	RPS20	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6165	RPL35A	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6223	RPS19	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6232	RPS27	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6231	RPS26	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	11224	RPL35	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6160	RPL31	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6218	RPS17	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6201	RPS7	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6155	RPL27	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6154	RPL26	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6210	RPS15A	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	90121	TSR2	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6141	RPL18	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6235	RPS29	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	6234	RPS28	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	51816	ADA2	ORPHA:124
HP:0001871	Abnormality of blood and blood-forming tissues	29127	RACGAP1	OMIM:619789
HP:0001871	Abnormality of blood and blood-forming tissues	146059	CDAN1	OMIM:224120
HP:0001871	Abnormality of blood and blood-forming tissues	9780	PIEZO1	OMIM:194380
HP:0001871	Abnormality of blood and blood-forming tissues	2533	FYB1	OMIM:273900
HP:0001871	Abnormality of blood and blood-forming tissues	10095	ARPC1B	OMIM:617718
HP:0001871	Abnormality of blood and blood-forming tissues	1991	ELANE	OMIM:202700
HP:0001871	Abnormality of blood and blood-forming tissues	204	AK2	OMIM:267500
HP:0001871	Abnormality of blood and blood-forming tissues	2158	F9	OMIM:306900
HP:0001871	Abnormality of blood and blood-forming tissues	2153	F5	OMIM:227400
HP:0001871	Abnormality of blood and blood-forming tissues	2161	F12	OMIM:234000
HP:0001871	Abnormality of blood and blood-forming tissues	4351	MPI	ORPHA:79319
HP:0001871	Abnormality of blood and blood-forming tissues	8813	DPM1	OMIM:608799
HP:0001871	Abnormality of blood and blood-forming tissues	8813	DPM1	ORPHA:79322
HP:0001871	Abnormality of blood and blood-forming tissues	2677	GGCX	OMIM:277450
HP:0001871	Abnormality of blood and blood-forming tissues	5624	PROC	OMIM:612304
HP:0001871	Abnormality of blood and blood-forming tissues	5624	PROC	OMIM:176860
HP:0001871	Abnormality of blood and blood-forming tissues	29929	ALG6	ORPHA:79320
HP:0001871	Abnormality of blood and blood-forming tissues	55768	NGLY1	ORPHA:404454
HP:0001871	Abnormality of blood and blood-forming tissues	2683	B4GALT1	ORPHA:79332
HP:0001871	Abnormality of blood and blood-forming tissues	79087	ALG12	ORPHA:79324
HP:0001871	Abnormality of blood and blood-forming tissues	79053	ALG8	ORPHA:79325
HP:0001871	Abnormality of blood and blood-forming tissues	8671	SLC4A4	OMIM:604278
HP:0001871	Abnormality of blood and blood-forming tissues	3043	HBB	ORPHA:2133
HP:0001871	Abnormality of blood and blood-forming tissues	210	ALAD	ORPHA:100924
HP:0001871	Abnormality of blood and blood-forming tissues	5159	PDGFRB	OMIM:131440
HP:0001871	Abnormality of blood and blood-forming tissues	9630	GNA14	ORPHA:1063
HP:0001871	Abnormality of blood and blood-forming tissues	57169	ZNFX1	OMIM:619644
HP:0001871	Abnormality of blood and blood-forming tissues	56992	KIF15	OMIM:619981
HP:0001871	Abnormality of blood and blood-forming tissues	10535	RNASEH2A	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	84153	RNASEH2C	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	25939	SAMHD1	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	79621	RNASEH2B	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	103	ADAR	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	100147744	RNU7-1	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	134353	LSM11	ORPHA:51
HP:0001871	Abnormality of blood and blood-forming tissues	9663	LPIN2	ORPHA:77297
HP:0001871	Abnormality of blood and blood-forming tissues	595	CCND1	ORPHA:52416
HP:0001871	Abnormality of blood and blood-forming tissues	3492	IGH	ORPHA:52416
HP:0001871	Abnormality of blood and blood-forming tissues	7852	CXCR4	OMIM:193670
HP:0001871	Abnormality of blood and blood-forming tissues	93183	PIGM	OMIM:610293
HP:0001871	Abnormality of blood and blood-forming tissues	581	BAX	OMIM:613065
HP:0001871	Abnormality of blood and blood-forming tissues	6886	TAL1	OMIM:613065
HP:0001871	Abnormality of blood and blood-forming tissues	6887	TAL2	OMIM:613065
HP:0001871	Abnormality of blood and blood-forming tissues	64324	NSD1	ORPHA:821
HP:0001871	Abnormality of blood and blood-forming tissues	29072	SETD2	ORPHA:821
HP:0001871	Abnormality of blood and blood-forming tissues	10297	APC2	ORPHA:821
HP:0001871	Abnormality of blood and blood-forming tissues	1376	CPT2	OMIM:608836
HP:0001871	Abnormality of blood and blood-forming tissues	54820	NDE1	ORPHA:2177
HP:0001871	Abnormality of blood and blood-forming tissues	8322	FZD4	OMIM:133780
HP:0001871	Abnormality of blood and blood-forming tissues	8322	FZD4	ORPHA:891
HP:0001871	Abnormality of blood and blood-forming tissues	8322	FZD4	ORPHA:90050
HP:0001871	Abnormality of blood and blood-forming tissues	4693	NDP	ORPHA:891
HP:0001871	Abnormality of blood and blood-forming tissues	4693	NDP	ORPHA:90050
HP:0001871	Abnormality of blood and blood-forming tissues	23554	TSPAN12	ORPHA:891
HP:0001871	Abnormality of blood and blood-forming tissues	79797	ZNF408	ORPHA:891
HP:0001871	Abnormality of blood and blood-forming tissues	726	CAPN5	OMIM:193235
HP:0001871	Abnormality of blood and blood-forming tissues	7439	BEST1	OMIM:193220
HP:0001871	Abnormality of blood and blood-forming tissues	6247	RS1	OMIM:312700
HP:0001871	Abnormality of blood and blood-forming tissues	5925	RB1	OMIM:180200
HP:0001871	Abnormality of blood and blood-forming tissues	8314	BAP1	ORPHA:39044
HP:0001871	Abnormality of blood and blood-forming tissues	57105	CYSLTR2	ORPHA:39044
HP:0001871	Abnormality of blood and blood-forming tissues	2776	GNAQ	ORPHA:39044
HP:0001871	Abnormality of blood and blood-forming tissues	2767	GNA11	ORPHA:39044
HP:0001871	Abnormality of blood and blood-forming tissues	23137	SMC5	OMIM:620185
HP:0001871	Abnormality of blood and blood-forming tissues	5328	PLAU	OMIM:601709
HP:0001871	Abnormality of blood and blood-forming tissues	51594	NBAS	OMIM:616483
HP:0001871	Abnormality of blood and blood-forming tissues	132	ADK	OMIM:614300
HP:0001871	Abnormality of blood and blood-forming tissues	5009	OTC	OMIM:311250
HP:0001871	Abnormality of blood and blood-forming tissues	9420	CYP7B1	OMIM:613812
HP:0001871	Abnormality of blood and blood-forming tissues	23600	AMACR	OMIM:214950
HP:0001871	Abnormality of blood and blood-forming tissues	3033	HADH	ORPHA:71212
HP:0001871	Abnormality of blood and blood-forming tissues	55687	TRMU	OMIM:613070
HP:0001871	Abnormality of blood and blood-forming tissues	60561	RINT1	OMIM:618641
HP:0001871	Abnormality of blood and blood-forming tissues	125988	MICOS13	OMIM:618329
HP:0001871	Abnormality of blood and blood-forming tissues	10020	GNE	ORPHA:3166
HP:0001871	Abnormality of blood and blood-forming tissues	9971	NR1H4	OMIM:617049
HP:0001871	Abnormality of blood and blood-forming tissues	84342	COG8	ORPHA:95428
HP:0001871	Abnormality of blood and blood-forming tissues	28976	ACAD9	ORPHA:99901
HP:0001871	Abnormality of blood and blood-forming tissues	63915	BLOC1S5	OMIM:619172
HP:0001871	Abnormality of blood and blood-forming tissues	51206	GP6	OMIM:614201
HP:0001871	Abnormality of blood and blood-forming tissues	79001	VKORC1	OMIM:607473
HP:0001871	Abnormality of blood and blood-forming tissues	53335	BCL11A	ORPHA:251380
HP:0001871	Abnormality of blood and blood-forming tissues	3047	HBG1	ORPHA:251380
HP:0001871	Abnormality of blood and blood-forming tissues	3048	HBG2	ORPHA:251380
HP:0001871	Abnormality of blood and blood-forming tissues	57724	EPG5	OMIM:242840
HP:0001871	Abnormality of blood and blood-forming tissues	57724	EPG5	ORPHA:1493
HP:0001871	Abnormality of blood and blood-forming tissues	196527	ANO6	OMIM:262890
HP:0001871	Abnormality of blood and blood-forming tissues	2165	F13B	ORPHA:331
HP:0001871	Abnormality of blood and blood-forming tissues	2165	F13B	OMIM:613235
HP:0001871	Abnormality of blood and blood-forming tissues	84876	ORAI1	OMIM:612782
HP:0001871	Abnormality of blood and blood-forming tissues	3514	IGKC	OMIM:614102
HP:0001871	Abnormality of blood and blood-forming tissues	6786	STIM1	OMIM:612783
HP:0001871	Abnormality of blood and blood-forming tissues	940	CD28	ORPHA:3162
HP:0001871	Abnormality of blood and blood-forming tissues	7133	TNFRSF1B	ORPHA:3162
HP:0001871	Abnormality of blood and blood-forming tissues	9056	SLC7A7	ORPHA:470
HP:0001871	Abnormality of blood and blood-forming tissues	3575	IL7R	ORPHA:169154
HP:0001871	Abnormality of blood and blood-forming tissues	213	ALB	ORPHA:86816
HP:0001871	Abnormality of blood and blood-forming tissues	6440	SFTPC	OMIM:178500
HP:0001871	Abnormality of blood and blood-forming tissues	727897	MUC5B	OMIM:178500
HP:0001871	Abnormality of blood and blood-forming tissues	729238	SFTPA2	OMIM:178500
HP:0001871	Abnormality of blood and blood-forming tissues	11311	VPS45	OMIM:615285
HP:0001871	Abnormality of blood and blood-forming tissues	5184	PEPD	OMIM:170100
HP:0001871	Abnormality of blood and blood-forming tissues	1277	COL1A1	ORPHA:1310
HP:0001871	Abnormality of blood and blood-forming tissues	915	CD3D	ORPHA:169160
HP:0001871	Abnormality of blood and blood-forming tissues	916	CD3E	ORPHA:169160
HP:0001871	Abnormality of blood and blood-forming tissues	919	CD247	ORPHA:169160
HP:0001871	Abnormality of blood and blood-forming tissues	5692	PSMB4	OMIM:617591
HP:0001871	Abnormality of blood and blood-forming tissues	5698	PSMB9	OMIM:617591
HP:0001871	Abnormality of blood and blood-forming tissues	9051	PSTPIP1	ORPHA:69126
HP:0001871	Abnormality of blood and blood-forming tissues	23064	SETX	OMIM:606002
HP:0001871	Abnormality of blood and blood-forming tissues	5696	PSMB8	OMIM:256040
HP:0001871	Abnormality of blood and blood-forming tissues	950	SCARB2	ORPHA:77259
HP:0001871	Abnormality of blood and blood-forming tissues	84701	COX4I2	OMIM:612714
HP:0001871	Abnormality of blood and blood-forming tissues	23250	ATP11A	OMIM:619851
HP:0001871	Abnormality of blood and blood-forming tissues	91647	ATPAF2	OMIM:604273
HP:0001871	Abnormality of blood and blood-forming tissues	10430	TMEM147	OMIM:620075
HP:0001871	Abnormality of blood and blood-forming tissues	2625	GATA3	ORPHA:2237
HP:0001871	Abnormality of blood and blood-forming tissues	54205	CYCS	OMIM:612004
HP:0001871	Abnormality of blood and blood-forming tissues	998	CDC42	ORPHA:487796
HP:0001871	Abnormality of blood and blood-forming tissues	998	CDC42	OMIM:616737
HP:0001871	Abnormality of blood and blood-forming tissues	220202	ATOH7	ORPHA:91495
HP:0001871	Abnormality of blood and blood-forming tissues	5903	RANBP2	ORPHA:88619
HP:0001871	Abnormality of blood and blood-forming tissues	200931	SLC51A	OMIM:619484
HP:0001871	Abnormality of blood and blood-forming tissues	3848	KRT1	ORPHA:79503
HP:0001871	Abnormality of blood and blood-forming tissues	3557	IL1RN	OMIM:612852
HP:0001871	Abnormality of blood and blood-forming tissues	51341	ZBTB7A	OMIM:619769
HP:0001871	Abnormality of blood and blood-forming tissues	8036	SHOC2	OMIM:607721
HP:0001871	Abnormality of blood and blood-forming tissues	80739	MPIG6B	OMIM:617441
HP:0001871	Abnormality of blood and blood-forming tissues	23218	NBEAL2	OMIM:139090
HP:0001871	Abnormality of blood and blood-forming tissues	1053	CEBPE	OMIM:245480
HP:0001871	Abnormality of blood and blood-forming tissues	1528	CYB5A	ORPHA:621
HP:0001871	Abnormality of blood and blood-forming tissues	1528	CYB5A	OMIM:250790
HP:0001871	Abnormality of blood and blood-forming tissues	7389	UROD	ORPHA:95159
HP:0001871	Abnormality of blood and blood-forming tissues	5873	RAB27A	OMIM:607624
HP:0001871	Abnormality of blood and blood-forming tissues	5873	RAB27A	ORPHA:79477
HP:0001871	Abnormality of blood and blood-forming tissues	1777	DNASE2	OMIM:619858
HP:0001871	Abnormality of blood and blood-forming tissues	5591	PRKDC	OMIM:615966
HP:0001871	Abnormality of blood and blood-forming tissues	2214	FCGR3A	OMIM:615707
HP:0001871	Abnormality of blood and blood-forming tissues	54894	RNF43	ORPHA:157798
HP:0001871	Abnormality of blood and blood-forming tissues	7373	COL14A1	ORPHA:79501
HP:0001871	Abnormality of blood and blood-forming tissues	79719	AAGAB	ORPHA:79501
HP:0001871	Abnormality of blood and blood-forming tissues	23149	FCHO1	OMIM:619164
HP:0001871	Abnormality of blood and blood-forming tissues	22806	IKZF3	OMIM:619437
HP:0001871	Abnormality of blood and blood-forming tissues	23092	ARHGAP26	OMIM:607785
HP:0001871	Abnormality of blood and blood-forming tissues	26040	SETBP1	ORPHA:798
HP:0001871	Abnormality of blood and blood-forming tissues	3501	IGHG2	ORPHA:183675
HP:0001871	Abnormality of blood and blood-forming tissues	4913	NTHL1	ORPHA:454840
HP:0001871	Abnormality of blood and blood-forming tissues	8567	MADD	OMIM:619004
HP:0001871	Abnormality of blood and blood-forming tissues	8567	MADD	OMIM:619005
HP:0001871	Abnormality of blood and blood-forming tissues	23545	ATP6V0A2	ORPHA:357074
HP:0001871	Abnormality of blood and blood-forming tissues	523	ATP6V1A	ORPHA:357074
HP:0001871	Abnormality of blood and blood-forming tissues	529	ATP6V1E1	ORPHA:357074
HP:0001871	Abnormality of blood and blood-forming tissues	440275	EIF2AK4	ORPHA:199241
HP:0001871	Abnormality of blood and blood-forming tissues	90417	KNSTRN	ORPHA:221139
HP:0001871	Abnormality of blood and blood-forming tissues	404672	GTF2H5	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	833	CARS1	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	2068	ERCC2	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	7737	RNF113A	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	136647	MPLKIP	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	6897	TARS1	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	2071	ERCC3	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	2961	GTF2E2	ORPHA:33364
HP:0001871	Abnormality of blood and blood-forming tissues	2202	EFEMP1	ORPHA:75376
HP:0001871	Abnormality of blood and blood-forming tissues	348	APOE	OMIM:603075
HP:0001871	Abnormality of blood and blood-forming tissues	83872	HMCN1	OMIM:603075
HP:0001871	Abnormality of blood and blood-forming tissues	3078	CFHR1	OMIM:603075
HP:0001871	Abnormality of blood and blood-forming tissues	10878	CFHR3	OMIM:603075
HP:0001871	Abnormality of blood and blood-forming tissues	399	RHOH	OMIM:618307
HP:0001871	Abnormality of blood and blood-forming tissues	4773	NFATC2	OMIM:620232
HP:0001871	Abnormality of blood and blood-forming tissues	331	XIAP	OMIM:308240
HP:0001871	Abnormality of blood and blood-forming tissues	4068	SH2D1A	OMIM:308240
HP:0001871	Abnormality of blood and blood-forming tissues	4233	MET	ORPHA:33402
HP:0001871	Abnormality of blood and blood-forming tissues	57591	MRTFA	OMIM:618847
HP:0001871	Abnormality of blood and blood-forming tissues	3795	KHK	ORPHA:2056
HP:0001871	Abnormality of blood and blood-forming tissues	5631	PRPS1	ORPHA:1187
HP:0001871	Abnormality of blood and blood-forming tissues	26258	BLOC1S6	OMIM:614171
HP:0001871	Abnormality of blood and blood-forming tissues	2982	GUCY1A1	ORPHA:401945
HP:0001871	Abnormality of blood and blood-forming tissues	4774	NFIA	ORPHA:401986
HP:0001871	Abnormality of blood and blood-forming tissues	55788	LMBRD1	ORPHA:79284
HP:0001871	Abnormality of blood and blood-forming tissues	284058	KANSL1	ORPHA:363965
HP:0001871	Abnormality of blood and blood-forming tissues	284058	KANSL1	ORPHA:363958
HP:0001871	Abnormality of blood and blood-forming tissues	6678	SPARC	OMIM:616507
HP:0001871	Abnormality of blood and blood-forming tissues	165918	RNF168	ORPHA:420741
HP:0001871	Abnormality of blood and blood-forming tissues	100131801	PET100	OMIM:619055
HP:0001871	Abnormality of blood and blood-forming tissues	92935	MARS2	OMIM:616430
HP:0001871	Abnormality of blood and blood-forming tissues	2157	F8	OMIM:301071
HP:0001871	Abnormality of blood and blood-forming tissues	10559	SLC35A1	OMIM:603585
HP:0001871	Abnormality of blood and blood-forming tissues	3579	CXCR2	OMIM:619407
HP:0001871	Abnormality of blood and blood-forming tissues	6915	TBXA2R	OMIM:614009
HP:0001871	Abnormality of blood and blood-forming tissues	1289	COL5A1	ORPHA:287
HP:0001871	Abnormality of blood and blood-forming tissues	1290	COL5A2	ORPHA:287
HP:0001871	Abnormality of blood and blood-forming tissues	55340	GIMAP5	OMIM:619463
HP:0001871	Abnormality of blood and blood-forming tissues	9049	AIP	OMIM:219090
HP:0001871	Abnormality of blood and blood-forming tissues	64170	CARD9	OMIM:212050
HP:0001871	Abnormality of blood and blood-forming tissues	641	BLM	ORPHA:125
HP:0001871	Abnormality of blood and blood-forming tissues	6850	SYK	OMIM:619381
HP:0001871	Abnormality of blood and blood-forming tissues	50943	FOXP3	ORPHA:37042
HP:0001871	Abnormality of blood and blood-forming tissues	5896	RAG1	ORPHA:331206
HP:0001871	Abnormality of blood and blood-forming tissues	5897	RAG2	ORPHA:331206
HP:0001871	Abnormality of blood and blood-forming tissues	1794	DOCK2	OMIM:616433
HP:0001871	Abnormality of blood and blood-forming tissues	56160	NSMCE3	OMIM:617241
HP:0001871	Abnormality of blood and blood-forming tissues	3937	LCP2	OMIM:619374
HP:0001871	Abnormality of blood and blood-forming tissues	23765	IL17RA	OMIM:613953
HP:0001871	Abnormality of blood and blood-forming tissues	4000	LMNA	ORPHA:300751
HP:0001871	Abnormality of blood and blood-forming tissues	8456	FOXN1	OMIM:618806
HP:0001871	Abnormality of blood and blood-forming tissues	60468	BACH2	OMIM:618394
HP:0001871	Abnormality of blood and blood-forming tissues	150274	HSCB	OMIM:619523
HP:0001871	Abnormality of blood and blood-forming tissues	84196	USP48	ORPHA:96253
HP:0001871	Abnormality of blood and blood-forming tissues	9101	USP8	ORPHA:96253
HP:0001871	Abnormality of blood and blood-forming tissues	64072	CDH23	ORPHA:96253
HP:0001871	Abnormality of blood and blood-forming tissues	2908	NR3C1	ORPHA:96253
HP:0001871	Abnormality of blood and blood-forming tissues	673	BRAF	ORPHA:96253
HP:0001871	Abnormality of blood and blood-forming tissues	29775	CARD10	OMIM:619632
HP:0001871	Abnormality of blood and blood-forming tissues	2137	EXTL3	ORPHA:508533
HP:0001871	Abnormality of blood and blood-forming tissues	11005	SPINK5	OMIM:256500
HP:0001871	Abnormality of blood and blood-forming tissues	28755	TRAC	OMIM:615387
HP:0001871	Abnormality of blood and blood-forming tissues	22861	NLRP1	OMIM:617388
HP:0001871	Abnormality of blood and blood-forming tissues	10159	ATP6AP2	OMIM:301045
HP:0001871	Abnormality of blood and blood-forming tissues	920	CD4	OMIM:619238
HP:0001871	Abnormality of blood and blood-forming tissues	50619	DEF6	OMIM:619573
HP:0001871	Abnormality of blood and blood-forming tissues	8772	FADD	OMIM:613759
HP:0001871	Abnormality of blood and blood-forming tissues	3921	RPSA	OMIM:271400
HP:0001871	Abnormality of blood and blood-forming tissues	84522	JAGN1	OMIM:616022
HP:0001871	Abnormality of blood and blood-forming tissues	1725	DHPS	OMIM:618480
HP:0001871	Abnormality of blood and blood-forming tissues	8288	EPX	OMIM:261500
HP:0001871	Abnormality of blood and blood-forming tissues	51807	TUBA8	OMIM:619840
HP:0001871	Abnormality of blood and blood-forming tissues	3767	KCNJ11	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	3767	KCNJ11	OMIM:610582
HP:0001871	Abnormality of blood and blood-forming tissues	3767	KCNJ11	OMIM:616329
HP:0001871	Abnormality of blood and blood-forming tissues	3767	KCNJ11	ORPHA:79134
HP:0001871	Abnormality of blood and blood-forming tissues	8462	KLF11	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	2645	GCK	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	2645	GCK	OMIM:606176
HP:0001871	Abnormality of blood and blood-forming tissues	26060	APPL1	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	26060	APPL1	OMIM:616511
HP:0001871	Abnormality of blood and blood-forming tissues	640	BLK	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	1056	CEL	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	1056	CEL	OMIM:609812
HP:0001871	Abnormality of blood and blood-forming tissues	4760	NEUROD1	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	3651	PDX1	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	6833	ABCC8	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	6833	ABCC8	ORPHA:79134
HP:0001871	Abnormality of blood and blood-forming tissues	5078	PAX4	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	3172	HNF4A	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	6927	HNF1A	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	3630	INS	ORPHA:552
HP:0001871	Abnormality of blood and blood-forming tissues	3630	INS	OMIM:618858
HP:0001871	Abnormality of blood and blood-forming tissues	5611	DNAJC3	OMIM:616192
HP:0001871	Abnormality of blood and blood-forming tissues	6524	SLC5A2	ORPHA:69076
HP:0001871	Abnormality of blood and blood-forming tissues	81555	YIPF5	OMIM:619278
HP:0001871	Abnormality of blood and blood-forming tissues	286053	NSMCE2	OMIM:617253
HP:0001871	Abnormality of blood and blood-forming tissues	63036	CELA2A	OMIM:618620
HP:0001871	Abnormality of blood and blood-forming tissues	10651	MTX2	OMIM:619127
HP:0001871	Abnormality of blood and blood-forming tissues	23312	DMXL2	OMIM:616113
HP:0001871	Abnormality of blood and blood-forming tissues	26580	BSCL2	OMIM:269700
HP:0001871	Abnormality of blood and blood-forming tissues	57570	TRMT5	OMIM:616539
HP:0001871	Abnormality of blood and blood-forming tissues	7486	WRN	OMIM:277700
HP:0001871	Abnormality of blood and blood-forming tissues	79731	NARS2	ORPHA:79134
HP:0001871	Abnormality of blood and blood-forming tissues	1314	COPA	OMIM:616414
HP:0001871	Abnormality of blood and blood-forming tissues	10664	CTCF	ORPHA:363611
HP:0001871	Abnormality of blood and blood-forming tissues	23299	BICD2	OMIM:618291
HP:0001871	Abnormality of blood and blood-forming tissues	2639	GCDH	ORPHA:25
HP:0001871	Abnormality of blood and blood-forming tissues	1785	DNM2	OMIM:615368
HP:0001871	Abnormality of blood and blood-forming tissues	1161	ERCC8	ORPHA:90324
HP:0001871	Abnormality of blood and blood-forming tissues	2074	ERCC6	ORPHA:90324
HP:0001871	Abnormality of blood and blood-forming tissues	25974	MMACHC	ORPHA:79282
HP:0001871	Abnormality of blood and blood-forming tissues	3703	STT3A	OMIM:619714
HP:0001871	Abnormality of blood and blood-forming tissues	8241	RBM10	OMIM:311900
HP:0001871	Abnormality of blood and blood-forming tissues	10526	IPO8	OMIM:619472
HP:0001871	Abnormality of blood and blood-forming tissues	1738	DLD	ORPHA:2394
HP:0001871	Abnormality of blood and blood-forming tissues	7056	THBD	OMIM:614486
HP:0001871	Abnormality of blood and blood-forming tissues	3273	HRG	OMIM:613116
HP:0001871	Abnormality of blood and blood-forming tissues	55315	SLC29A3	OMIM:602782
HP:0001871	Abnormality of blood and blood-forming tissues	55315	SLC29A3	ORPHA:168569
HP:0001871	Abnormality of blood and blood-forming tissues	2859	GPR35	ORPHA:171
HP:0001871	Abnormality of blood and blood-forming tissues	10507	SEMA4D	ORPHA:171
HP:0001871	Abnormality of blood and blood-forming tissues	4485	MST1	ORPHA:171
HP:0001871	Abnormality of blood and blood-forming tissues	6925	TCF4	ORPHA:171
HP:0001871	Abnormality of blood and blood-forming tissues	2000	ELF4	OMIM:301074
HP:0001871	Abnormality of blood and blood-forming tissues	84823	LMNB2	ORPHA:79087
HP:0001871	Abnormality of blood and blood-forming tissues	9451	EIF2AK3	ORPHA:1667
HP:0001871	Abnormality of blood and blood-forming tissues	3394	IRF8	OMIM:226990
HP:0001871	Abnormality of blood and blood-forming tissues	567	B2M	OMIM:241600
HP:0001871	Abnormality of blood and blood-forming tissues	51371	POMP	OMIM:618048
HP:0001871	Abnormality of blood and blood-forming tissues	959	CD40LG	OMIM:308230
HP:0001871	Abnormality of blood and blood-forming tissues	51645	PPIL1	OMIM:619301
HP:0001871	Abnormality of blood and blood-forming tissues	51362	CDC40	OMIM:619302
HP:0001871	Abnormality of blood and blood-forming tissues	9158	FIBP	OMIM:617107
HP:0001871	Abnormality of blood and blood-forming tissues	9158	FIBP	ORPHA:500095
HP:0001871	Abnormality of blood and blood-forming tissues	51135	IRAK4	OMIM:607676
HP:0001871	Abnormality of blood and blood-forming tissues	11151	CORO1A	OMIM:615401
HP:0001871	Abnormality of blood and blood-forming tissues	8915	BCL10	OMIM:616098
HP:0001874	Abnormality of neutrophils	3981	LIG4	ORPHA:235
HP:0001874	Abnormality of neutrophils	54888	NSUN2	ORPHA:235
HP:0001874	Abnormality of neutrophils	4615	MYD88	ORPHA:33226
HP:0001874	Abnormality of neutrophils	9015	TAF1A	ORPHA:154
HP:0001874	Abnormality of neutrophils	5663	PSEN1	ORPHA:154
HP:0001874	Abnormality of neutrophils	6389	SDHA	ORPHA:154
HP:0001874	Abnormality of neutrophils	7112	TMPO	ORPHA:154
HP:0001874	Abnormality of neutrophils	9464	HAND2	ORPHA:154
HP:0001874	Abnormality of neutrophils	4625	MYH7	ORPHA:154
HP:0001874	Abnormality of neutrophils	88	ACTN2	ORPHA:154
HP:0001874	Abnormality of neutrophils	10486	CAP2	ORPHA:154
HP:0001874	Abnormality of neutrophils	10060	ABCC9	ORPHA:154
HP:0001874	Abnormality of neutrophils	7168	TPM1	ORPHA:154
HP:0001874	Abnormality of neutrophils	7414	VCL	ORPHA:154
HP:0001874	Abnormality of neutrophils	1832	DSP	ORPHA:154
HP:0001874	Abnormality of neutrophils	70	ACTC1	ORPHA:154
HP:0001874	Abnormality of neutrophils	27063	ANKRD1	ORPHA:154
HP:0001874	Abnormality of neutrophils	8048	CSRP3	ORPHA:154
HP:0001874	Abnormality of neutrophils	1410	CRYAB	ORPHA:154
HP:0001874	Abnormality of neutrophils	4000	LMNA	ORPHA:154
HP:0001874	Abnormality of neutrophils	7139	TNNT2	ORPHA:154
HP:0001874	Abnormality of neutrophils	1829	DSG2	ORPHA:154
HP:0001874	Abnormality of neutrophils	3910	LAMA4	ORPHA:154
HP:0001874	Abnormality of neutrophils	63976	PRDM16	ORPHA:154
HP:0001874	Abnormality of neutrophils	7273	TTN	ORPHA:154
HP:0001874	Abnormality of neutrophils	10587	TXNRD2	ORPHA:154
HP:0001874	Abnormality of neutrophils	9531	BAG3	ORPHA:154
HP:0001874	Abnormality of neutrophils	5350	PLN	ORPHA:154
HP:0001874	Abnormality of neutrophils	91624	NEXN	ORPHA:154
HP:0001874	Abnormality of neutrophils	79717	PPCS	ORPHA:154
HP:0001874	Abnormality of neutrophils	5664	PSEN2	ORPHA:154
HP:0001874	Abnormality of neutrophils	4624	MYH6	ORPHA:154
HP:0001874	Abnormality of neutrophils	9529	BAG5	ORPHA:154
HP:0001874	Abnormality of neutrophils	4607	MYBPC3	ORPHA:154
HP:0001874	Abnormality of neutrophils	282996	RBM20	ORPHA:154
HP:0001874	Abnormality of neutrophils	7137	TNNI3	ORPHA:154
HP:0001874	Abnormality of neutrophils	11155	LDB3	ORPHA:154
HP:0001874	Abnormality of neutrophils	2274	FHL2	ORPHA:154
HP:0001874	Abnormality of neutrophils	22845	DOLK	ORPHA:154
HP:0001874	Abnormality of neutrophils	5894	RAF1	ORPHA:154
HP:0001874	Abnormality of neutrophils	1756	DMD	ORPHA:154
HP:0001874	Abnormality of neutrophils	57798	GATAD1	ORPHA:154
HP:0001874	Abnormality of neutrophils	7134	TNNC1	ORPHA:154
HP:0001874	Abnormality of neutrophils	84665	MYPN	ORPHA:154
HP:0001874	Abnormality of neutrophils	1674	DES	ORPHA:154
HP:0001874	Abnormality of neutrophils	6444	SGCD	ORPHA:154
HP:0001874	Abnormality of neutrophils	6331	SCN5A	ORPHA:154
HP:0001874	Abnormality of neutrophils	2218	FKTN	ORPHA:154
HP:0001874	Abnormality of neutrophils	8557	TCAP	ORPHA:154
HP:0001874	Abnormality of neutrophils	3106	HLA-B	ORPHA:36426
HP:0001874	Abnormality of neutrophils	10320	IKZF1	ORPHA:36426
HP:0001874	Abnormality of neutrophils	80169	CTC1	ORPHA:1775
HP:0001874	Abnormality of neutrophils	26277	TINF2	ORPHA:1775
HP:0001874	Abnormality of neutrophils	55651	NHP2	ORPHA:1775
HP:0001874	Abnormality of neutrophils	79650	USB1	ORPHA:1775
HP:0001874	Abnormality of neutrophils	55135	WRAP53	ORPHA:1775
HP:0001874	Abnormality of neutrophils	51750	RTEL1	ORPHA:1775
HP:0001874	Abnormality of neutrophils	4869	NPM1	ORPHA:1775
HP:0001874	Abnormality of neutrophils	7012	TERC	ORPHA:1775
HP:0001874	Abnormality of neutrophils	55505	NOP10	ORPHA:1775
HP:0001874	Abnormality of neutrophils	5073	PARN	ORPHA:1775
HP:0001874	Abnormality of neutrophils	7015	TERT	ORPHA:1775
HP:0001874	Abnormality of neutrophils	1736	DKC1	ORPHA:1775
HP:0001874	Abnormality of neutrophils	7298	TYMS	ORPHA:1775
HP:0001874	Abnormality of neutrophils	3070	HELLS	ORPHA:2268
HP:0001874	Abnormality of neutrophils	1789	DNMT3B	ORPHA:2268
HP:0001874	Abnormality of neutrophils	83879	CDCA7	ORPHA:2268
HP:0001874	Abnormality of neutrophils	9841	ZBTB24	ORPHA:2268
HP:0001874	Abnormality of neutrophils	114548	NLRP3	ORPHA:1451
HP:0001874	Abnormality of neutrophils	219285	SAMD9L	ORPHA:2585
HP:0001874	Abnormality of neutrophils	204	AK2	ORPHA:33355
HP:0001874	Abnormality of neutrophils	4689	NCF4	ORPHA:379
HP:0001874	Abnormality of neutrophils	2672	GFI1	OMIM:607847
HP:0001874	Abnormality of neutrophils	2672	GFI1	OMIM:613107
HP:0001874	Abnormality of neutrophils	2672	GFI1	ORPHA:486
HP:0001874	Abnormality of neutrophils	4594	MMUT	ORPHA:289916
HP:0001874	Abnormality of neutrophils	4594	MMUT	OMIM:251000
HP:0001874	Abnormality of neutrophils	4594	MMUT	ORPHA:79312
HP:0001874	Abnormality of neutrophils	867	CBL	ORPHA:98850
HP:0001874	Abnormality of neutrophils	861	RUNX1	ORPHA:98850
HP:0001874	Abnormality of neutrophils	695	BTK	OMIM:300755
HP:0001874	Abnormality of neutrophils	695	BTK	ORPHA:47
HP:0001874	Abnormality of neutrophils	26235	FBXL4	OMIM:615471
HP:0001874	Abnormality of neutrophils	54892	NCAPG2	OMIM:618460
HP:0001874	Abnormality of neutrophils	23241	PACS2	OMIM:618067
HP:0001874	Abnormality of neutrophils	6948	TCN2	OMIM:275350
HP:0001874	Abnormality of neutrophils	6948	TCN2	ORPHA:859
HP:0001874	Abnormality of neutrophils	6218	RPS17	OMIM:612527
HP:0001874	Abnormality of neutrophils	6218	RPS17	ORPHA:124
HP:0001874	Abnormality of neutrophils	959	CD40LG	OMIM:308230
HP:0001874	Abnormality of neutrophils	5551	PRF1	ORPHA:540
HP:0001874	Abnormality of neutrophils	5551	PRF1	ORPHA:88
HP:0001874	Abnormality of neutrophils	8676	STX11	ORPHA:540
HP:0001874	Abnormality of neutrophils	8676	STX11	OMIM:603552
HP:0001874	Abnormality of neutrophils	201294	UNC13D	ORPHA:540
HP:0001874	Abnormality of neutrophils	6813	STXBP2	ORPHA:540
HP:0001874	Abnormality of neutrophils	10559	SLC35A1	ORPHA:238459
HP:0001874	Abnormality of neutrophils	10559	SLC35A1	OMIM:603585
HP:0001874	Abnormality of neutrophils	54809	SAMD9	OMIM:619041
HP:0001874	Abnormality of neutrophils	114803	MYSM1	ORPHA:508542
HP:0001874	Abnormality of neutrophils	9948	WDR1	OMIM:150550
HP:0001874	Abnormality of neutrophils	2175	FANCA	OMIM:227650
HP:0001874	Abnormality of neutrophils	2120	ETV6	OMIM:616216
HP:0001874	Abnormality of neutrophils	55215	FANCI	OMIM:609053
HP:0001874	Abnormality of neutrophils	4552	MTRR	ORPHA:2169
HP:0001874	Abnormality of neutrophils	65082	VPS33A	OMIM:617303
HP:0001874	Abnormality of neutrophils	55788	LMBRD1	OMIM:277380
HP:0001874	Abnormality of neutrophils	55788	LMBRD1	ORPHA:79284
HP:0001874	Abnormality of neutrophils	973	CD79A	OMIM:613501
HP:0001874	Abnormality of neutrophils	973	CD79A	ORPHA:33110
HP:0001874	Abnormality of neutrophils	29760	BLNK	OMIM:613502
HP:0001874	Abnormality of neutrophils	29760	BLNK	ORPHA:33110
HP:0001874	Abnormality of neutrophils	9837	GINS1	OMIM:617827
HP:0001874	Abnormality of neutrophils	2122	MECOM	OMIM:616738
HP:0001874	Abnormality of neutrophils	331	XIAP	OMIM:308240
HP:0001874	Abnormality of neutrophils	4068	SH2D1A	OMIM:308240
HP:0001874	Abnormality of neutrophils	8029	CUBN	ORPHA:35858
HP:0001874	Abnormality of neutrophils	81693	AMN	ORPHA:35858
HP:0001874	Abnormality of neutrophils	7454	WAS	OMIM:300299
HP:0001874	Abnormality of neutrophils	7454	WAS	ORPHA:86788
HP:0001874	Abnormality of neutrophils	7454	WAS	ORPHA:906
HP:0001874	Abnormality of neutrophils	54	ACP5	OMIM:607944
HP:0001874	Abnormality of neutrophils	3458	IFNG	ORPHA:88
HP:0001874	Abnormality of neutrophils	6023	RMRP	ORPHA:175
HP:0001874	Abnormality of neutrophils	6023	RMRP	OMIM:250250
HP:0001874	Abnormality of neutrophils	2530	FUT8	OMIM:618005
HP:0001874	Abnormality of neutrophils	7037	TFRC	OMIM:616740
HP:0001874	Abnormality of neutrophils	816	CAMK2B	OMIM:617799
HP:0001874	Abnormality of neutrophils	92579	G6PC3	OMIM:612541
HP:0001874	Abnormality of neutrophils	28956	LAMTOR2	ORPHA:90023
HP:0001874	Abnormality of neutrophils	28956	LAMTOR2	OMIM:610798
HP:0001874	Abnormality of neutrophils	8546	AP3B1	OMIM:608233
HP:0001874	Abnormality of neutrophils	157680	VPS13B	OMIM:216550
HP:0001874	Abnormality of neutrophils	157680	VPS13B	ORPHA:193
HP:0001874	Abnormality of neutrophils	5095	PCCA	OMIM:606054
HP:0001874	Abnormality of neutrophils	5096	PCCB	OMIM:606054
HP:0001874	Abnormality of neutrophils	112812	FDX2	OMIM:251900
HP:0001874	Abnormality of neutrophils	958	CD40	OMIM:606843
HP:0001874	Abnormality of neutrophils	2178	FANCE	OMIM:600901
HP:0001874	Abnormality of neutrophils	4478	MSN	OMIM:300988
HP:0001874	Abnormality of neutrophils	546	ATRX	ORPHA:231401
HP:0001874	Abnormality of neutrophils	28755	TRAC	OMIM:615387
HP:0001874	Abnormality of neutrophils	4700	NDUFA6	OMIM:618253
HP:0001874	Abnormality of neutrophils	175	AGA	OMIM:208400
HP:0001874	Abnormality of neutrophils	113235	SLC46A1	OMIM:229050
HP:0001874	Abnormality of neutrophils	5826	ABCD4	OMIM:614857
HP:0001874	Abnormality of neutrophils	326625	MMAB	OMIM:251110
HP:0001874	Abnormality of neutrophils	5873	RAB27A	ORPHA:79477
HP:0001874	Abnormality of neutrophils	2328	FMO3	OMIM:602079
HP:0001874	Abnormality of neutrophils	8943	AP3D1	OMIM:617050
HP:0001874	Abnormality of neutrophils	3572	IL6ST	OMIM:619752
HP:0001874	Abnormality of neutrophils	2623	GATA1	OMIM:300835
HP:0001874	Abnormality of neutrophils	2623	GATA1	ORPHA:124
HP:0001874	Abnormality of neutrophils	29927	SEC61A1	OMIM:617056
HP:0001874	Abnormality of neutrophils	6135	RPL11	OMIM:612562
HP:0001874	Abnormality of neutrophils	6135	RPL11	ORPHA:124
HP:0001874	Abnormality of neutrophils	9401	RECQL4	ORPHA:221016
HP:0001874	Abnormality of neutrophils	6201	RPS7	OMIM:612563
HP:0001874	Abnormality of neutrophils	6201	RPS7	ORPHA:124
HP:0001874	Abnormality of neutrophils	6154	RPL26	OMIM:614900
HP:0001874	Abnormality of neutrophils	6154	RPL26	ORPHA:124
HP:0001874	Abnormality of neutrophils	7456	WIPF1	ORPHA:906
HP:0001874	Abnormality of neutrophils	8517	IKBKG	OMIM:301081
HP:0001874	Abnormality of neutrophils	6789	STK4	OMIM:614868
HP:0001874	Abnormality of neutrophils	4796	TONSL	ORPHA:93357
HP:0001874	Abnormality of neutrophils	4796	TONSL	OMIM:271510
HP:0001874	Abnormality of neutrophils	7036	TFR2	OMIM:604250
HP:0001874	Abnormality of neutrophils	166785	MMAA	OMIM:251100
HP:0001874	Abnormality of neutrophils	3507	IGHM	OMIM:601495
HP:0001874	Abnormality of neutrophils	3507	IGHM	ORPHA:33110
HP:0001874	Abnormality of neutrophils	25839	COG4	OMIM:618150
HP:0001874	Abnormality of neutrophils	3575	IL7R	ORPHA:169154
HP:0001874	Abnormality of neutrophils	6141	RPL18	OMIM:618310
HP:0001874	Abnormality of neutrophils	6141	RPL18	ORPHA:124
HP:0001874	Abnormality of neutrophils	3845	KRAS	OMIM:614470
HP:0001874	Abnormality of neutrophils	4893	NRAS	OMIM:614470
HP:0001874	Abnormality of neutrophils	150274	HSCB	OMIM:619523
HP:0001874	Abnormality of neutrophils	11311	VPS45	OMIM:615285
HP:0001874	Abnormality of neutrophils	50485	SMARCAL1	ORPHA:1830
HP:0001874	Abnormality of neutrophils	50485	SMARCAL1	OMIM:242900
HP:0001874	Abnormality of neutrophils	57724	EPG5	OMIM:242840
HP:0001874	Abnormality of neutrophils	2937	GSS	OMIM:266130
HP:0001874	Abnormality of neutrophils	2177	FANCD2	OMIM:227646
HP:0001874	Abnormality of neutrophils	2176	FANCC	OMIM:227645
HP:0001874	Abnormality of neutrophils	2189	FANCG	OMIM:614082
HP:0001874	Abnormality of neutrophils	84522	JAGN1	OMIM:616022
HP:0001874	Abnormality of neutrophils	5295	PIK3R1	OMIM:615214
HP:0001874	Abnormality of neutrophils	5295	PIK3R1	ORPHA:33110
HP:0001874	Abnormality of neutrophils	4194	MDM4	OMIM:618849
HP:0001874	Abnormality of neutrophils	25974	MMACHC	ORPHA:79282
HP:0001874	Abnormality of neutrophils	25974	MMACHC	OMIM:277400
HP:0001874	Abnormality of neutrophils	51567	TDP2	OMIM:616949
HP:0001874	Abnormality of neutrophils	404672	GTF2H5	ORPHA:33364
HP:0001874	Abnormality of neutrophils	404672	GTF2H5	OMIM:616395
HP:0001874	Abnormality of neutrophils	833	CARS1	ORPHA:33364
HP:0001874	Abnormality of neutrophils	2068	ERCC2	ORPHA:33364
HP:0001874	Abnormality of neutrophils	7737	RNF113A	ORPHA:33364
HP:0001874	Abnormality of neutrophils	136647	MPLKIP	ORPHA:33364
HP:0001874	Abnormality of neutrophils	6897	TARS1	ORPHA:33364
HP:0001874	Abnormality of neutrophils	2071	ERCC3	ORPHA:33364
HP:0001874	Abnormality of neutrophils	2961	GTF2E2	ORPHA:33364
HP:0001874	Abnormality of neutrophils	9451	EIF2AK3	ORPHA:1667
HP:0001874	Abnormality of neutrophils	6223	RPS19	OMIM:105650
HP:0001874	Abnormality of neutrophils	6223	RPS19	ORPHA:124
HP:0001874	Abnormality of neutrophils	51311	TLR8	OMIM:301078
HP:0001874	Abnormality of neutrophils	10312	TCIRG1	ORPHA:486
HP:0001874	Abnormality of neutrophils	6138	RPL15	ORPHA:124
HP:0001874	Abnormality of neutrophils	6229	RPS24	ORPHA:124
HP:0001874	Abnormality of neutrophils	6125	RPL5	ORPHA:124
HP:0001874	Abnormality of neutrophils	6204	RPS10	ORPHA:124
HP:0001874	Abnormality of neutrophils	6224	RPS20	ORPHA:124
HP:0001874	Abnormality of neutrophils	6165	RPL35A	ORPHA:124
HP:0001874	Abnormality of neutrophils	6232	RPS27	ORPHA:124
HP:0001874	Abnormality of neutrophils	6231	RPS26	ORPHA:124
HP:0001874	Abnormality of neutrophils	11224	RPL35	ORPHA:124
HP:0001874	Abnormality of neutrophils	6160	RPL31	ORPHA:124
HP:0001874	Abnormality of neutrophils	6155	RPL27	ORPHA:124
HP:0001874	Abnormality of neutrophils	6210	RPS15A	ORPHA:124
HP:0001874	Abnormality of neutrophils	90121	TSR2	ORPHA:124
HP:0001874	Abnormality of neutrophils	6235	RPS29	ORPHA:124
HP:0001874	Abnormality of neutrophils	6234	RPS28	ORPHA:124
HP:0001874	Abnormality of neutrophils	51816	ADA2	ORPHA:124
HP:0001874	Abnormality of neutrophils	5371	PML	ORPHA:520
HP:0001874	Abnormality of neutrophils	5914	RARA	ORPHA:520
HP:0001874	Abnormality of neutrophils	359948	IRF2BP2	ORPHA:520
HP:0001874	Abnormality of neutrophils	81608	FIP1L1	ORPHA:520
HP:0001874	Abnormality of neutrophils	5573	PRKAR1A	ORPHA:520
HP:0001874	Abnormality of neutrophils	54880	BCOR	ORPHA:520
HP:0001874	Abnormality of neutrophils	64859	NABP1	ORPHA:520
HP:0001874	Abnormality of neutrophils	6777	STAT5B	ORPHA:520
HP:0001874	Abnormality of neutrophils	4926	NUMA1	ORPHA:520
HP:0001874	Abnormality of neutrophils	7704	ZBTB16	ORPHA:520
HP:0001874	Abnormality of neutrophils	79718	TBL1XR1	ORPHA:520
HP:0001874	Abnormality of neutrophils	10459	MAD2L2	OMIM:617243
HP:0001874	Abnormality of neutrophils	96459	FNIP1	OMIM:619705
HP:0001874	Abnormality of neutrophils	27429	HTRA2	OMIM:617248
HP:0001874	Abnormality of neutrophils	7319	UBE2A	ORPHA:163956
HP:0001874	Abnormality of neutrophils	55294	FBXW7	OMIM:620012
HP:0001874	Abnormality of neutrophils	5052	PRDX1	OMIM:277400
HP:0001874	Abnormality of neutrophils	10456	HAX1	OMIM:610738
HP:0001874	Abnormality of neutrophils	6929	TCF3	ORPHA:33110
HP:0001874	Abnormality of neutrophils	974	CD79B	ORPHA:33110
HP:0001874	Abnormality of neutrophils	3543	IGLL1	ORPHA:33110
HP:0001874	Abnormality of neutrophils	56262	LRRC8A	ORPHA:33110
HP:0001874	Abnormality of neutrophils	64682	ANAPC1	ORPHA:221008
HP:0001874	Abnormality of neutrophils	5896	RAG1	ORPHA:231154
HP:0001874	Abnormality of neutrophils	2215	FCGR3B	ORPHA:464370
HP:0001874	Abnormality of neutrophils	355	FAS	ORPHA:3261
HP:0001874	Abnormality of neutrophils	355	FAS	OMIM:601859
HP:0001874	Abnormality of neutrophils	356	FASLG	ORPHA:3261
HP:0001874	Abnormality of neutrophils	356	FASLG	OMIM:601859
HP:0001874	Abnormality of neutrophils	5580	PRKCD	ORPHA:3261
HP:0001874	Abnormality of neutrophils	843	CASP10	ORPHA:3261
HP:0001874	Abnormality of neutrophils	843	CASP10	OMIM:603909
HP:0001874	Abnormality of neutrophils	10125	RASGRP1	ORPHA:3261
HP:0001874	Abnormality of neutrophils	5994	RFXAP	ORPHA:572
HP:0001874	Abnormality of neutrophils	4261	CIITA	ORPHA:572
HP:0001874	Abnormality of neutrophils	5993	RFX5	ORPHA:572
HP:0001874	Abnormality of neutrophils	8625	RFXANK	ORPHA:572
HP:0001874	Abnormality of neutrophils	6772	STAT1	ORPHA:391487
HP:0001874	Abnormality of neutrophils	10043	TOM1	ORPHA:391487
HP:0001874	Abnormality of neutrophils	7174	TPP2	OMIM:619220
HP:0001874	Abnormality of neutrophils	6774	STAT3	OMIM:615952
HP:0001874	Abnormality of neutrophils	50943	FOXP3	ORPHA:37042
HP:0001874	Abnormality of neutrophils	4860	PNP	OMIM:613179
HP:0001874	Abnormality of neutrophils	5238	PGM3	ORPHA:443811
HP:0001874	Abnormality of neutrophils	5294	PIK3CG	OMIM:619802
HP:0001874	Abnormality of neutrophils	54440	SASH3	OMIM:301082
HP:0001874	Abnormality of neutrophils	83737	ITCH	ORPHA:228426
HP:0001874	Abnormality of neutrophils	29851	ICOS	OMIM:607594
HP:0001874	Abnormality of neutrophils	4688	NCF2	OMIM:233710
HP:0001874	Abnormality of neutrophils	79415	CYBC1	OMIM:618935
HP:0001874	Abnormality of neutrophils	1536	CYBB	OMIM:306400
HP:0001874	Abnormality of neutrophils	653361	NCF1	OMIM:233700
HP:0001874	Abnormality of neutrophils	84888	SPPL2A	OMIM:619549
HP:0001874	Abnormality of neutrophils	1535	CYBA	OMIM:233690
HP:0001874	Abnormality of neutrophils	10841	FTCD	OMIM:229100
HP:0001874	Abnormality of neutrophils	119559	SFXN4	OMIM:615578
HP:0001874	Abnormality of neutrophils	6573	SLC19A1	OMIM:601775
HP:0001874	Abnormality of neutrophils	4522	MTHFD1	OMIM:617780
HP:0001874	Abnormality of neutrophils	51594	NBAS	OMIM:614800
HP:0001874	Abnormality of neutrophils	3930	LBR	OMIM:169400
HP:0001874	Abnormality of neutrophils	3930	LBR	OMIM:618019
HP:0001874	Abnormality of neutrophils	23451	SF3B1	ORPHA:75564
HP:0001874	Abnormality of neutrophils	10430	TMEM147	OMIM:620075
HP:0001874	Abnormality of neutrophils	90268	OTULIN	OMIM:617099
HP:0001874	Abnormality of neutrophils	3394	IRF8	OMIM:226990
HP:0001874	Abnormality of neutrophils	4598	MVK	OMIM:260920
HP:0001874	Abnormality of neutrophils	171023	ASXL1	ORPHA:98849
HP:0001874	Abnormality of neutrophils	54790	TET2	ORPHA:98849
HP:0001874	Abnormality of neutrophils	3815	KIT	ORPHA:98849
HP:0001874	Abnormality of neutrophils	6427	SRSF2	ORPHA:98849
HP:0001874	Abnormality of neutrophils	26525	IL36RN	OMIM:614204
HP:0001874	Abnormality of neutrophils	4210	MEFV	ORPHA:3243
HP:0001874	Abnormality of neutrophils	4210	MEFV	OMIM:249100
HP:0001874	Abnormality of neutrophils	1441	CSF3R	OMIM:162830
HP:0001874	Abnormality of neutrophils	55343	SLC35C1	OMIM:266265
HP:0001874	Abnormality of neutrophils	55343	SLC35C1	ORPHA:99843
HP:0001874	Abnormality of neutrophils	5293	PIK3CD	OMIM:619281
HP:0001874	Abnormality of neutrophils	57169	ZNFX1	OMIM:619644
HP:0001874	Abnormality of neutrophils	5971	RELB	OMIM:617585
HP:0001874	Abnormality of neutrophils	3557	IL1RN	OMIM:612852
HP:0001874	Abnormality of neutrophils	5880	RAC2	OMIM:608203
HP:0001874	Abnormality of neutrophils	7187	TRAF3	ORPHA:1930
HP:0001874	Abnormality of neutrophils	81622	UNC93B1	ORPHA:1930
HP:0001874	Abnormality of neutrophils	148022	TICAM1	ORPHA:1930
HP:0001874	Abnormality of neutrophils	7098	TLR3	ORPHA:1930
HP:0001874	Abnormality of neutrophils	29110	TBK1	ORPHA:1930
HP:0001874	Abnormality of neutrophils	2624	GATA2	ORPHA:3226
HP:0001874	Abnormality of neutrophils	7852	CXCR4	ORPHA:51636
HP:0001874	Abnormality of neutrophils	6208	RPS14	ORPHA:86841
HP:0001874	Abnormality of neutrophils	1053	CEBPE	OMIM:245480
HP:0001874	Abnormality of neutrophils	2821	GPI	OMIM:613470
HP:0001874	Abnormality of neutrophils	6603	SMARCD2	OMIM:617475
HP:0001874	Abnormality of neutrophils	1130	LYST	OMIM:214500
HP:0001874	Abnormality of neutrophils	4627	MYH9	OMIM:155100
HP:0001874	Abnormality of neutrophils	5373	PMM2	ORPHA:79318
HP:0001874	Abnormality of neutrophils	3937	LCP2	OMIM:619374
HP:0001874	Abnormality of neutrophils	6901	TAFAZZIN	OMIM:302060
HP:0001874	Abnormality of neutrophils	1991	ELANE	OMIM:162800
HP:0001874	Abnormality of neutrophils	1991	ELANE	ORPHA:2686
HP:0001874	Abnormality of neutrophils	3579	CXCR2	OMIM:619407
HP:0001874	Abnormality of neutrophils	987	LRBA	OMIM:614700
HP:0001874	Abnormality of neutrophils	51645	PPIL1	OMIM:619301
HP:0001874	Abnormality of neutrophils	51362	CDC40	OMIM:619302
HP:0001874	Abnormality of neutrophils	2542	SLC37A4	ORPHA:79259
HP:0001874	Abnormality of neutrophils	9158	FIBP	OMIM:617107
HP:0001874	Abnormality of neutrophils	9158	FIBP	ORPHA:500095
HP:0001874	Abnormality of neutrophils	6688	SPI1	OMIM:619707
HP:0001874	Abnormality of neutrophils	51135	IRAK4	OMIM:607676
HP:0001874	Abnormality of neutrophils	134218	DNAJC21	ORPHA:811
HP:0001874	Abnormality of neutrophils	79631	EFL1	ORPHA:811
HP:0001874	Abnormality of neutrophils	51119	SBDS	ORPHA:811
HP:0001874	Abnormality of neutrophils	6729	SRP54	ORPHA:811
HP:0001874	Abnormality of neutrophils	81570	CLPB	ORPHA:445038
HP:0001876	Pancytopenia	171023	ASXL1	ORPHA:98850
HP:0001876	Pancytopenia	54790	TET2	ORPHA:98850
HP:0001876	Pancytopenia	54790	TET2	ORPHA:824
HP:0001876	Pancytopenia	54790	TET2	ORPHA:75564
HP:0001876	Pancytopenia	867	CBL	ORPHA:98850
HP:0001876	Pancytopenia	861	RUNX1	ORPHA:98850
HP:0001876	Pancytopenia	6427	SRSF2	ORPHA:98850
HP:0001876	Pancytopenia	7293	TNFRSF4	OMIM:615593
HP:0001876	Pancytopenia	5880	RAC2	OMIM:618986
HP:0001876	Pancytopenia	6948	TCN2	OMIM:275350
HP:0001876	Pancytopenia	6948	TCN2	ORPHA:859
HP:0001876	Pancytopenia	987	LRBA	OMIM:614700
HP:0001876	Pancytopenia	811	CALR	ORPHA:824
HP:0001876	Pancytopenia	4352	MPL	ORPHA:824
HP:0001876	Pancytopenia	4352	MPL	OMIM:604498
HP:0001876	Pancytopenia	3717	JAK2	ORPHA:824
HP:0001876	Pancytopenia	7518	XRCC4	ORPHA:99812
HP:0001876	Pancytopenia	3981	LIG4	ORPHA:99812
HP:0001876	Pancytopenia	3981	LIG4	OMIM:606593
HP:0001876	Pancytopenia	1736	DKC1	OMIM:305000
HP:0001876	Pancytopenia	113235	SLC46A1	ORPHA:90045
HP:0001876	Pancytopenia	23451	SF3B1	ORPHA:75564
HP:0001876	Pancytopenia	4125	MAN2B1	ORPHA:309282
HP:0001876	Pancytopenia	4125	MAN2B1	ORPHA:309288
HP:0001876	Pancytopenia	54809	SAMD9	OMIM:619041
HP:0001876	Pancytopenia	58484	NLRC4	OMIM:616050
HP:0001876	Pancytopenia	4522	MTHFD1	OMIM:617780
HP:0001876	Pancytopenia	2175	FANCA	OMIM:227650
HP:0001876	Pancytopenia	4552	MTRR	ORPHA:2169
HP:0001876	Pancytopenia	55788	LMBRD1	OMIM:277380
HP:0001876	Pancytopenia	55135	WRAP53	OMIM:613988
HP:0001876	Pancytopenia	8029	CUBN	ORPHA:35858
HP:0001876	Pancytopenia	81693	AMN	ORPHA:35858
HP:0001876	Pancytopenia	219285	SAMD9L	OMIM:159550
HP:0001876	Pancytopenia	219285	SAMD9L	ORPHA:2585
HP:0001876	Pancytopenia	5994	RFXAP	ORPHA:572
HP:0001876	Pancytopenia	4261	CIITA	ORPHA:572
HP:0001876	Pancytopenia	5993	RFX5	ORPHA:572
HP:0001876	Pancytopenia	8625	RFXANK	ORPHA:572
HP:0001876	Pancytopenia	27235	COQ2	OMIM:607426
HP:0001876	Pancytopenia	1777	DNASE2	OMIM:619858
HP:0001876	Pancytopenia	3431	SP110	ORPHA:79124
HP:0001876	Pancytopenia	1854	DUT	OMIM:620044
HP:0001876	Pancytopenia	5277	PIGA	ORPHA:447
HP:0001876	Pancytopenia	5095	PCCA	OMIM:606054
HP:0001876	Pancytopenia	5096	PCCB	OMIM:606054
HP:0001876	Pancytopenia	1130	LYST	ORPHA:167
HP:0001876	Pancytopenia	2778	GNAS	ORPHA:562
HP:0001876	Pancytopenia	3712	IVD	OMIM:243500
HP:0001876	Pancytopenia	2178	FANCE	OMIM:600901
HP:0001876	Pancytopenia	57511	COG6	OMIM:614576
HP:0001876	Pancytopenia	545	ATR	OMIM:210600
HP:0001876	Pancytopenia	10320	IKZF1	OMIM:616873
HP:0001876	Pancytopenia	2629	GBA1	OMIM:231005
HP:0001876	Pancytopenia	2629	GBA1	OMIM:231000
HP:0001876	Pancytopenia	2629	GBA1	ORPHA:85212
HP:0001876	Pancytopenia	2629	GBA1	OMIM:230800
HP:0001876	Pancytopenia	2629	GBA1	ORPHA:2072
HP:0001876	Pancytopenia	2629	GBA1	ORPHA:77261
HP:0001876	Pancytopenia	2629	GBA1	ORPHA:77259
HP:0001876	Pancytopenia	80216	ALPK1	OMIM:614979
HP:0001876	Pancytopenia	326625	MMAB	OMIM:251110
HP:0001876	Pancytopenia	5873	RAB27A	ORPHA:79477
HP:0001876	Pancytopenia	760	CA2	ORPHA:2785
HP:0001876	Pancytopenia	54	ACP5	ORPHA:1855
HP:0001876	Pancytopenia	9051	PSTPIP1	OMIM:604416
HP:0001876	Pancytopenia	3702	ITK	OMIM:613011
HP:0001876	Pancytopenia	10056	FARSB	OMIM:613658
HP:0001876	Pancytopenia	166785	MMAA	OMIM:251100
HP:0001876	Pancytopenia	84868	HAVCR2	OMIM:618398
HP:0001876	Pancytopenia	79991	STN1	OMIM:617341
HP:0001876	Pancytopenia	3845	KRAS	OMIM:614470
HP:0001876	Pancytopenia	4893	NRAS	OMIM:614470
HP:0001876	Pancytopenia	374879	ZNF699	OMIM:619488
HP:0001876	Pancytopenia	60468	BACH2	OMIM:618394
HP:0001876	Pancytopenia	83737	ITCH	OMIM:613385
HP:0001876	Pancytopenia	83737	ITCH	ORPHA:228426
HP:0001876	Pancytopenia	5788	PTPRC	OMIM:619924
HP:0001876	Pancytopenia	51816	ADA2	OMIM:615688
HP:0001876	Pancytopenia	64135	IFIH1	OMIM:615846
HP:0001876	Pancytopenia	6117	RPA1	OMIM:619767
HP:0001876	Pancytopenia	50485	SMARCAL1	OMIM:242900
HP:0001876	Pancytopenia	3123	HLA-DRB1	OMIM:181000
HP:0001876	Pancytopenia	2177	FANCD2	OMIM:227646
HP:0001876	Pancytopenia	55739	NAXD	OMIM:618321
HP:0001876	Pancytopenia	2176	FANCC	OMIM:227645
HP:0001876	Pancytopenia	51081	MRPS7	OMIM:617872
HP:0001876	Pancytopenia	84464	SLX4	OMIM:613951
HP:0001876	Pancytopenia	1719	DHFR	OMIM:613839
HP:0001876	Pancytopenia	28962	OSTM1	OMIM:259720
HP:0001876	Pancytopenia	6774	STAT3	ORPHA:520
HP:0001876	Pancytopenia	5371	PML	ORPHA:520
HP:0001876	Pancytopenia	5914	RARA	ORPHA:520
HP:0001876	Pancytopenia	359948	IRF2BP2	ORPHA:520
HP:0001876	Pancytopenia	81608	FIP1L1	ORPHA:520
HP:0001876	Pancytopenia	4869	NPM1	ORPHA:520
HP:0001876	Pancytopenia	5573	PRKAR1A	ORPHA:520
HP:0001876	Pancytopenia	54880	BCOR	ORPHA:520
HP:0001876	Pancytopenia	64859	NABP1	ORPHA:520
HP:0001876	Pancytopenia	6777	STAT5B	ORPHA:520
HP:0001876	Pancytopenia	4926	NUMA1	ORPHA:520
HP:0001876	Pancytopenia	7704	ZBTB16	ORPHA:520
HP:0001876	Pancytopenia	79718	TBL1XR1	ORPHA:520
HP:0001876	Pancytopenia	29089	UBE2T	OMIM:616435
HP:0001876	Pancytopenia	10535	RNASEH2A	OMIM:610333
HP:0001876	Pancytopenia	6929	TCF3	OMIM:619824
HP:0001876	Pancytopenia	54938	SARS2	OMIM:613845
HP:0001876	Pancytopenia	64858	DCLRE1B	OMIM:620133
HP:0001876	Pancytopenia	6888	TALDO1	OMIM:606003
HP:0001876	Pancytopenia	950	SCARB2	ORPHA:77259
HP:0001876	Pancytopenia	8600	TNFSF11	OMIM:259710
HP:0001876	Pancytopenia	26277	TINF2	OMIM:268130
HP:0001876	Pancytopenia	26277	TINF2	OMIM:613990
HP:0001876	Pancytopenia	26277	TINF2	OMIM:127550
HP:0001876	Pancytopenia	134218	DNAJC21	OMIM:617052
HP:0001876	Pancytopenia	134218	DNAJC21	ORPHA:811
HP:0001876	Pancytopenia	2187	FANCB	OMIM:300514
HP:0001876	Pancytopenia	331	XIAP	OMIM:300635
HP:0001876	Pancytopenia	331	XIAP	OMIM:308240
HP:0001876	Pancytopenia	55651	NHP2	OMIM:224230
HP:0001876	Pancytopenia	55505	NOP10	OMIM:224230
HP:0001876	Pancytopenia	7015	TERT	OMIM:614742
HP:0001876	Pancytopenia	7015	TERT	OMIM:127550
HP:0001876	Pancytopenia	7015	TERT	OMIM:613989
HP:0001876	Pancytopenia	7015	TERT	OMIM:609135
HP:0001876	Pancytopenia	9401	RECQL4	ORPHA:221016
HP:0001876	Pancytopenia	7012	TERC	OMIM:614743
HP:0001876	Pancytopenia	7012	TERC	OMIM:127550
HP:0001876	Pancytopenia	10312	TCIRG1	ORPHA:486
HP:0001876	Pancytopenia	1991	ELANE	ORPHA:486
HP:0001876	Pancytopenia	2672	GFI1	ORPHA:486
HP:0001876	Pancytopenia	6729	SRP54	ORPHA:486
HP:0001876	Pancytopenia	6729	SRP54	ORPHA:811
HP:0001876	Pancytopenia	81570	CLPB	ORPHA:486
HP:0001876	Pancytopenia	2624	GATA2	OMIM:614172
HP:0001876	Pancytopenia	65057	ACD	OMIM:616553
HP:0001876	Pancytopenia	939	CD27	OMIM:615122
HP:0001876	Pancytopenia	6731	SRP72	OMIM:614675
HP:0001876	Pancytopenia	79728	PALB2	OMIM:610832
HP:0001876	Pancytopenia	3207	HOXA11	OMIM:605432
HP:0001876	Pancytopenia	4068	SH2D1A	OMIM:308240
HP:0001876	Pancytopenia	4683	NBN	OMIM:609135
HP:0001876	Pancytopenia	5551	PRF1	OMIM:609135
HP:0001876	Pancytopenia	51119	SBDS	OMIM:609135
HP:0001876	Pancytopenia	51119	SBDS	ORPHA:811
HP:0001876	Pancytopenia	3458	IFNG	OMIM:609135
HP:0001876	Pancytopenia	79631	EFL1	ORPHA:811
HP:0001876	Pancytopenia	64682	ANAPC1	ORPHA:221008
HP:0001877	Abnormal erythrocyte morphology	29071	C1GALT1C1	OMIM:300622
HP:0001877	Abnormal erythrocyte morphology	5238	PGM3	ORPHA:443811
HP:0001877	Abnormal erythrocyte morphology	5238	PGM3	OMIM:615816
HP:0001877	Abnormal erythrocyte morphology	959	CD40LG	OMIM:308230
HP:0001877	Abnormal erythrocyte morphology	8526	DGKE	OMIM:615008
HP:0001877	Abnormal erythrocyte morphology	2937	GSS	OMIM:231900
HP:0001877	Abnormal erythrocyte morphology	2937	GSS	OMIM:266130
HP:0001877	Abnormal erythrocyte morphology	103	ADAR	OMIM:615010
HP:0001877	Abnormal erythrocyte morphology	7128	TNFAIP3	OMIM:616744
HP:0001877	Abnormal erythrocyte morphology	966	CD59	OMIM:612300
HP:0001877	Abnormal erythrocyte morphology	79415	CYBC1	OMIM:618935
HP:0001877	Abnormal erythrocyte morphology	23495	TNFRSF13B	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	4791	NFKB2	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	115650	TNFRSF13C	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	1380	CR2	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	8742	TNFSF12	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	930	CD19	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	29851	ICOS	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	931	MS4A1	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	975	CD81	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	2783	GNB2	OMIM:619503
HP:0001877	Abnormal erythrocyte morphology	51604	PIGT	OMIM:615399
HP:0001877	Abnormal erythrocyte morphology	1282	COL4A1	OMIM:175780
HP:0001877	Abnormal erythrocyte morphology	286410	ATP11C	OMIM:301015
HP:0001877	Abnormal erythrocyte morphology	3845	KRAS	OMIM:614470
HP:0001877	Abnormal erythrocyte morphology	4893	NRAS	OMIM:614470
HP:0001877	Abnormal erythrocyte morphology	51251	NT5C3A	OMIM:266120
HP:0001877	Abnormal erythrocyte morphology	2212	FCGR2A	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	2213	FCGR2B	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	1773	DNASE1	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	203	AK1	OMIM:612631
HP:0001877	Abnormal erythrocyte morphology	8085	KMT2D	OMIM:147920
HP:0001877	Abnormal erythrocyte morphology	7403	KDM6A	OMIM:147920
HP:0001877	Abnormal erythrocyte morphology	10841	FTCD	ORPHA:51208
HP:0001877	Abnormal erythrocyte morphology	10841	FTCD	OMIM:229100
HP:0001877	Abnormal erythrocyte morphology	25974	MMACHC	ORPHA:79282
HP:0001877	Abnormal erythrocyte morphology	25974	MMACHC	OMIM:277400
HP:0001877	Abnormal erythrocyte morphology	55788	LMBRD1	ORPHA:79284
HP:0001877	Abnormal erythrocyte morphology	55788	LMBRD1	OMIM:277380
HP:0001877	Abnormal erythrocyte morphology	3251	HPRT1	OMIM:300322
HP:0001877	Abnormal erythrocyte morphology	7466	WFS1	OMIM:222300
HP:0001877	Abnormal erythrocyte morphology	26227	PHGDH	OMIM:601815
HP:0001877	Abnormal erythrocyte morphology	26227	PHGDH	ORPHA:79351
HP:0001877	Abnormal erythrocyte morphology	10560	SLC19A2	ORPHA:49827
HP:0001877	Abnormal erythrocyte morphology	4548	MTR	OMIM:250940
HP:0001877	Abnormal erythrocyte morphology	5052	PRDX1	OMIM:277400
HP:0001877	Abnormal erythrocyte morphology	6772	STAT1	ORPHA:391487
HP:0001877	Abnormal erythrocyte morphology	6772	STAT1	OMIM:614162
HP:0001877	Abnormal erythrocyte morphology	10043	TOM1	ORPHA:391487
HP:0001877	Abnormal erythrocyte morphology	57217	TTC7A	OMIM:243150
HP:0001877	Abnormal erythrocyte morphology	57217	TTC7A	ORPHA:436252
HP:0001877	Abnormal erythrocyte morphology	3702	ITK	OMIM:613011
HP:0001877	Abnormal erythrocyte morphology	4683	NBN	OMIM:251260
HP:0001877	Abnormal erythrocyte morphology	4683	NBN	ORPHA:647
HP:0001877	Abnormal erythrocyte morphology	6774	STAT3	OMIM:615952
HP:0001877	Abnormal erythrocyte morphology	4860	PNP	OMIM:613179
HP:0001877	Abnormal erythrocyte morphology	4860	PNP	ORPHA:760
HP:0001877	Abnormal erythrocyte morphology	987	LRBA	OMIM:614700
HP:0001877	Abnormal erythrocyte morphology	7174	TPP2	ORPHA:444463
HP:0001877	Abnormal erythrocyte morphology	7174	TPP2	OMIM:619220
HP:0001877	Abnormal erythrocyte morphology	22861	NLRP1	OMIM:617388
HP:0001877	Abnormal erythrocyte morphology	4790	NFKB1	OMIM:616576
HP:0001877	Abnormal erythrocyte morphology	5294	PIK3CG	OMIM:619802
HP:0001877	Abnormal erythrocyte morphology	917	CD3G	OMIM:615607
HP:0001877	Abnormal erythrocyte morphology	5896	RAG1	ORPHA:231154
HP:0001877	Abnormal erythrocyte morphology	5896	RAG1	ORPHA:331206
HP:0001877	Abnormal erythrocyte morphology	5994	RFXAP	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	4261	CIITA	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	5993	RFX5	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	8625	RFXANK	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	3937	LCP2	OMIM:619374
HP:0001877	Abnormal erythrocyte morphology	50619	DEF6	OMIM:619573
HP:0001877	Abnormal erythrocyte morphology	1493	CTLA4	OMIM:616100
HP:0001877	Abnormal erythrocyte morphology	919	CD247	OMIM:610163
HP:0001877	Abnormal erythrocyte morphology	100	ADA	OMIM:102700
HP:0001877	Abnormal erythrocyte morphology	5897	RAG2	ORPHA:331206
HP:0001877	Abnormal erythrocyte morphology	5297	PI4KA	ORPHA:436252
HP:0001877	Abnormal erythrocyte morphology	51311	TLR8	OMIM:301078
HP:0001877	Abnormal erythrocyte morphology	56984	PSMG2	OMIM:619183
HP:0001877	Abnormal erythrocyte morphology	28755	TRAC	OMIM:615387
HP:0001877	Abnormal erythrocyte morphology	3560	IL2RB	OMIM:618495
HP:0001877	Abnormal erythrocyte morphology	7535	ZAP70	ORPHA:911
HP:0001877	Abnormal erythrocyte morphology	3559	IL2RA	OMIM:606367
HP:0001877	Abnormal erythrocyte morphology	54	ACP5	ORPHA:1855
HP:0001877	Abnormal erythrocyte morphology	7454	WAS	OMIM:301000
HP:0001877	Abnormal erythrocyte morphology	8074	FGF23	ORPHA:89937
HP:0001877	Abnormal erythrocyte morphology	324	APC	ORPHA:261584
HP:0001877	Abnormal erythrocyte morphology	2590	GALNT2	OMIM:618885
HP:0001877	Abnormal erythrocyte morphology	85365	ALG2	OMIM:607906
HP:0001877	Abnormal erythrocyte morphology	8260	NAA10	OMIM:300855
HP:0001877	Abnormal erythrocyte morphology	2335	FN1	ORPHA:93315
HP:0001877	Abnormal erythrocyte morphology	1280	COL2A1	ORPHA:93315
HP:0001877	Abnormal erythrocyte morphology	3753	KCNE1	ORPHA:90647
HP:0001877	Abnormal erythrocyte morphology	3784	KCNQ1	ORPHA:90647
HP:0001877	Abnormal erythrocyte morphology	6794	STK11	OMIM:175200
HP:0001877	Abnormal erythrocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0001877	Abnormal erythrocyte morphology	2000	ELF4	OMIM:301074
HP:0001877	Abnormal erythrocyte morphology	1616	DAXX	ORPHA:100075
HP:0001877	Abnormal erythrocyte morphology	4312	MMP1	ORPHA:79408
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:79408
HP:0001877	Abnormal erythrocyte morphology	1604	CD55	OMIM:226300
HP:0001877	Abnormal erythrocyte morphology	10845	CLPX	OMIM:618015
HP:0001877	Abnormal erythrocyte morphology	5825	ABCD3	OMIM:616278
HP:0001877	Abnormal erythrocyte morphology	5321	PLA2G4A	OMIM:618372
HP:0001877	Abnormal erythrocyte morphology	1188	CLCNKB	ORPHA:358
HP:0001877	Abnormal erythrocyte morphology	6559	SLC12A3	ORPHA:358
HP:0001877	Abnormal erythrocyte morphology	3931	LCAT	OMIM:245900
HP:0001877	Abnormal erythrocyte morphology	11277	TREX1	ORPHA:247691
HP:0001877	Abnormal erythrocyte morphology	7386	UQCRFS1	OMIM:618775
HP:0001877	Abnormal erythrocyte morphology	226	ALDOA	OMIM:611881
HP:0001877	Abnormal erythrocyte morphology	171023	ASXL1	ORPHA:98849
HP:0001877	Abnormal erythrocyte morphology	3815	KIT	ORPHA:98849
HP:0001877	Abnormal erythrocyte morphology	6427	SRSF2	ORPHA:98849
HP:0001877	Abnormal erythrocyte morphology	950	SCARB2	OMIM:254900
HP:0001877	Abnormal erythrocyte morphology	5826	ABCD4	OMIM:614857
HP:0001877	Abnormal erythrocyte morphology	114803	MYSM1	ORPHA:508542
HP:0001877	Abnormal erythrocyte morphology	3458	IFNG	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	5551	PRF1	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	4615	MYD88	ORPHA:33226
HP:0001877	Abnormal erythrocyte morphology	537	ATP6AP1	OMIM:300972
HP:0001877	Abnormal erythrocyte morphology	669	BPGM	OMIM:222800
HP:0001877	Abnormal erythrocyte morphology	10019	SH2B3	OMIM:133100
HP:0001877	Abnormal erythrocyte morphology	2034	EPAS1	OMIM:611783
HP:0001877	Abnormal erythrocyte morphology	7428	VHL	OMIM:263400
HP:0001877	Abnormal erythrocyte morphology	54583	EGLN1	OMIM:609820
HP:0001877	Abnormal erythrocyte morphology	2271	FH	OMIM:606812
HP:0001877	Abnormal erythrocyte morphology	1910	EDNRB	OMIM:600501
HP:0001877	Abnormal erythrocyte morphology	1727	CYB5R3	OMIM:250800
HP:0001877	Abnormal erythrocyte morphology	55532	SLC30A10	OMIM:613280
HP:0001877	Abnormal erythrocyte morphology	55532	SLC30A10	ORPHA:309854
HP:0001877	Abnormal erythrocyte morphology	261734	NPHP4	OMIM:606996
HP:0001877	Abnormal erythrocyte morphology	261734	NPHP4	OMIM:606966
HP:0001877	Abnormal erythrocyte morphology	84334	COA8	ORPHA:436271
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	OMIM:305000
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	1161	ERCC8	ORPHA:90321
HP:0001877	Abnormal erythrocyte morphology	2074	ERCC6	ORPHA:90321
HP:0001877	Abnormal erythrocyte morphology	3909	LAMA3	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3909	LAMA3	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	3918	LAMC2	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3918	LAMC2	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	3914	LAMB3	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3914	LAMB3	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	1308	COL17A1	ORPHA:79406
HP:0001877	Abnormal erythrocyte morphology	1308	COL17A1	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	4867	NPHP1	OMIM:266900
HP:0001877	Abnormal erythrocyte morphology	4867	NPHP1	OMIM:256100
HP:0001877	Abnormal erythrocyte morphology	249	ALPL	OMIM:241500
HP:0001877	Abnormal erythrocyte morphology	4141	MARS1	OMIM:615486
HP:0001877	Abnormal erythrocyte morphology	2050	EPHB4	OMIM:617300
HP:0001877	Abnormal erythrocyte morphology	5184	PEPD	OMIM:170100
HP:0001877	Abnormal erythrocyte morphology	65082	VPS33A	OMIM:617303
HP:0001877	Abnormal erythrocyte morphology	65082	VPS33A	ORPHA:505248
HP:0001877	Abnormal erythrocyte morphology	5428	POLG	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	1890	TYMP	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	3980	LIG3	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	50484	RRM2B	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	5745	PTH1R	ORPHA:296
HP:0001877	Abnormal erythrocyte morphology	3418	IDH2	ORPHA:296
HP:0001877	Abnormal erythrocyte morphology	3417	IDH1	ORPHA:296
HP:0001877	Abnormal erythrocyte morphology	6773	STAT2	OMIM:618886
HP:0001877	Abnormal erythrocyte morphology	3691	ITGB4	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	1130	LYST	ORPHA:167
HP:0001877	Abnormal erythrocyte morphology	1130	LYST	OMIM:214500
HP:0001877	Abnormal erythrocyte morphology	2624	GATA2	OMIM:614172
HP:0001877	Abnormal erythrocyte morphology	5442	POLRMT	OMIM:619743
HP:0001877	Abnormal erythrocyte morphology	2313	FLI1	ORPHA:370348
HP:0001877	Abnormal erythrocyte morphology	3981	LIG4	ORPHA:235
HP:0001877	Abnormal erythrocyte morphology	3981	LIG4	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	54888	NSUN2	ORPHA:235
HP:0001877	Abnormal erythrocyte morphology	9056	SLC7A7	ORPHA:470
HP:0001877	Abnormal erythrocyte morphology	9056	SLC7A7	OMIM:222700
HP:0001877	Abnormal erythrocyte morphology	1621	DBH	ORPHA:230
HP:0001877	Abnormal erythrocyte morphology	5972	REN	OMIM:613092
HP:0001877	Abnormal erythrocyte morphology	595	CCND1	ORPHA:29073
HP:0001877	Abnormal erythrocyte morphology	54914	FOCAD	OMIM:619991
HP:0001877	Abnormal erythrocyte morphology	54440	SASH3	OMIM:301082
HP:0001877	Abnormal erythrocyte morphology	166785	MMAA	OMIM:251100
HP:0001877	Abnormal erythrocyte morphology	64421	DCLRE1C	OMIM:603554
HP:0001877	Abnormal erythrocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	8676	STX11	OMIM:603552
HP:0001877	Abnormal erythrocyte morphology	8676	STX11	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	11311	VPS45	OMIM:615285
HP:0001877	Abnormal erythrocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0001877	Abnormal erythrocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0001877	Abnormal erythrocyte morphology	540	ATP7B	OMIM:277900
HP:0001877	Abnormal erythrocyte morphology	540	ATP7B	ORPHA:905
HP:0001877	Abnormal erythrocyte morphology	19	ABCA1	ORPHA:31150
HP:0001877	Abnormal erythrocyte morphology	90	ACVR1	ORPHA:337
HP:0001877	Abnormal erythrocyte morphology	55612	FERMT1	ORPHA:2908
HP:0001877	Abnormal erythrocyte morphology	5692	PSMB4	OMIM:617591
HP:0001877	Abnormal erythrocyte morphology	5698	PSMB9	OMIM:617591
HP:0001877	Abnormal erythrocyte morphology	6603	SMARCD2	OMIM:617475
HP:0001877	Abnormal erythrocyte morphology	8565	YARS1	OMIM:619418
HP:0001877	Abnormal erythrocyte morphology	2157	F8	ORPHA:169802
HP:0001877	Abnormal erythrocyte morphology	2184	FAH	OMIM:276700
HP:0001877	Abnormal erythrocyte morphology	404672	GTF2H5	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	833	CARS1	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2068	ERCC2	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	7737	RNF113A	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	6897	TARS1	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2071	ERCC3	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	64127	NOD2	ORPHA:90340
HP:0001877	Abnormal erythrocyte morphology	79053	ALG8	ORPHA:79325
HP:0001877	Abnormal erythrocyte morphology	79053	ALG8	OMIM:608104
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:77261
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:77259
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:230800
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:2072
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:230900
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:608013
HP:0001877	Abnormal erythrocyte morphology	9742	IFT140	OMIM:266920
HP:0001877	Abnormal erythrocyte morphology	51362	CDC40	OMIM:619302
HP:0001877	Abnormal erythrocyte morphology	204	AK2	ORPHA:33355
HP:0001877	Abnormal erythrocyte morphology	846	CASR	OMIM:239200
HP:0001877	Abnormal erythrocyte morphology	4594	MMUT	ORPHA:79312
HP:0001877	Abnormal erythrocyte morphology	4594	MMUT	ORPHA:289916
HP:0001877	Abnormal erythrocyte morphology	3155	HMGCL	ORPHA:20
HP:0001877	Abnormal erythrocyte morphology	3155	HMGCL	OMIM:246450
HP:0001877	Abnormal erythrocyte morphology	4558	MT-TF	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4572	MT-TQ	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4512	MT-CO1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4513	MT-CO2	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4514	MT-CO3	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4578	MT-TW	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4540	MT-ND5	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4541	MT-ND6	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4535	MT-ND1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4538	MT-ND4	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4567	MT-TL1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4574	MT-TS1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4574	MT-TS1	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	4575	MT-TS2	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4564	MT-TH	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	5076	PAX2	ORPHA:97362
HP:0001877	Abnormal erythrocyte morphology	5087	PBX1	ORPHA:97362
HP:0001877	Abnormal erythrocyte morphology	695	BTK	OMIM:300755
HP:0001877	Abnormal erythrocyte morphology	695	BTK	ORPHA:47
HP:0001877	Abnormal erythrocyte morphology	54892	NCAPG2	OMIM:618460
HP:0001877	Abnormal erythrocyte morphology	9842	PLEKHM1	OMIM:618107
HP:0001877	Abnormal erythrocyte morphology	9842	PLEKHM1	ORPHA:210110
HP:0001877	Abnormal erythrocyte morphology	256297	PTF1A	OMIM:609069
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	OMIM:259700
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	ORPHA:210110
HP:0001877	Abnormal erythrocyte morphology	29887	SNX10	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	29887	SNX10	OMIM:615085
HP:0001877	Abnormal erythrocyte morphology	8600	TNFSF11	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	8600	TNFSF11	OMIM:259710
HP:0001877	Abnormal erythrocyte morphology	201294	UNC13D	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	201294	UNC13D	OMIM:608898
HP:0001877	Abnormal erythrocyte morphology	6813	STXBP2	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	6813	STXBP2	OMIM:613101
HP:0001877	Abnormal erythrocyte morphology	6888	TALDO1	ORPHA:101028
HP:0001877	Abnormal erythrocyte morphology	6888	TALDO1	OMIM:606003
HP:0001877	Abnormal erythrocyte morphology	58484	NLRC4	OMIM:616050
HP:0001877	Abnormal erythrocyte morphology	5568	PRKACG	OMIM:616176
HP:0001877	Abnormal erythrocyte morphology	4952	OCRL	ORPHA:534
HP:0001877	Abnormal erythrocyte morphology	1281	COL3A1	OMIM:130050
HP:0001877	Abnormal erythrocyte morphology	427	ASAH1	ORPHA:333
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	ORPHA:575
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	OMIM:607115
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	ORPHA:1451
HP:0001877	Abnormal erythrocyte morphology	3394	IRF8	OMIM:226990
HP:0001877	Abnormal erythrocyte morphology	10157	AASS	OMIM:238700
HP:0001877	Abnormal erythrocyte morphology	2147	F2	ORPHA:325
HP:0001877	Abnormal erythrocyte morphology	2717	GLA	ORPHA:324
HP:0001877	Abnormal erythrocyte morphology	2717	GLA	OMIM:301500
HP:0001877	Abnormal erythrocyte morphology	56244	BTNL2	ORPHA:797
HP:0001877	Abnormal erythrocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0001877	Abnormal erythrocyte morphology	4210	MEFV	OMIM:608068
HP:0001877	Abnormal erythrocyte morphology	4210	MEFV	ORPHA:3243
HP:0001877	Abnormal erythrocyte morphology	5660	PSAP	OMIM:610539
HP:0001877	Abnormal erythrocyte morphology	23322	RPGRIP1L	OMIM:619113
HP:0001877	Abnormal erythrocyte morphology	29927	SEC61A1	OMIM:617056
HP:0001877	Abnormal erythrocyte morphology	83706	FERMT3	OMIM:612840
HP:0001877	Abnormal erythrocyte morphology	55636	CHD7	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	3575	IL7R	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	3561	IL2RG	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	2132	EXT2	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	60529	ALX4	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	51317	PHF21A	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	84868	HAVCR2	OMIM:618398
HP:0001877	Abnormal erythrocyte morphology	100147744	RNU7-1	OMIM:619487
HP:0001877	Abnormal erythrocyte morphology	51473	DCDC2	ORPHA:84081
HP:0001877	Abnormal erythrocyte morphology	91147	TMEM67	ORPHA:84081
HP:0001877	Abnormal erythrocyte morphology	91147	TMEM67	OMIM:613550
HP:0001877	Abnormal erythrocyte morphology	498	ATP5F1A	OMIM:620358
HP:0001877	Abnormal erythrocyte morphology	3988	LIPA	ORPHA:75233
HP:0001877	Abnormal erythrocyte morphology	3988	LIPA	OMIM:278000
HP:0001877	Abnormal erythrocyte morphology	26137	ZBTB20	ORPHA:3042
HP:0001877	Abnormal erythrocyte morphology	55898	UNC45A	OMIM:619377
HP:0001877	Abnormal erythrocyte morphology	6389	SDHA	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	6389	SDHA	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	6390	SDHB	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	6391	SDHC	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	5156	PDGFRA	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	5339	PLEC	OMIM:226670
HP:0001877	Abnormal erythrocyte morphology	5557	PRIM1	OMIM:620005
HP:0001877	Abnormal erythrocyte morphology	6522	SLC4A2	OMIM:620366
HP:0001877	Abnormal erythrocyte morphology	3593	IL12B	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	3106	HLA-B	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	3106	HLA-B	ORPHA:36426
HP:0001877	Abnormal erythrocyte morphology	6945	MLX	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	6850	SYK	OMIM:619381
HP:0001877	Abnormal erythrocyte morphology	4914	NTRK1	ORPHA:642
HP:0001877	Abnormal erythrocyte morphology	5371	PML	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	5914	RARA	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	81608	FIP1L1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4869	NPM1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4869	NPM1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	54880	BCOR	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	64859	NABP1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	6777	STAT5B	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4926	NUMA1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	7704	ZBTB16	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4713	NDUFB7	OMIM:620135
HP:0001877	Abnormal erythrocyte morphology	54938	SARS2	OMIM:613845
HP:0001877	Abnormal erythrocyte morphology	1534	CYB561	OMIM:618182
HP:0001877	Abnormal erythrocyte morphology	128	ADH5	OMIM:619151
HP:0001877	Abnormal erythrocyte morphology	867	CBL	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	861	RUNX1	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	4570	MT-TN	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	6834	SURF1	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	6834	SURF1	ORPHA:70474
HP:0001877	Abnormal erythrocyte morphology	6834	SURF1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	27178	IL37	OMIM:619398
HP:0001877	Abnormal erythrocyte morphology	23241	PACS2	OMIM:618067
HP:0001877	Abnormal erythrocyte morphology	10667	FARS2	OMIM:614946
HP:0001877	Abnormal erythrocyte morphology	79722	ANKRD55	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	26191	PTPN22	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	5771	PTPN2	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	2130	EWSR1	ORPHA:83469
HP:0001877	Abnormal erythrocyte morphology	7490	WT1	ORPHA:83469
HP:0001877	Abnormal erythrocyte morphology	30061	SLC40A1	OMIM:606069
HP:0001877	Abnormal erythrocyte morphology	9382	COG1	OMIM:611209
HP:0001877	Abnormal erythrocyte morphology	7298	TYMS	OMIM:620040
HP:0001877	Abnormal erythrocyte morphology	7298	TYMS	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	56992	KIF15	ORPHA:261323
HP:0001877	Abnormal erythrocyte morphology	9630	GNA14	ORPHA:1063
HP:0001877	Abnormal erythrocyte morphology	340061	STING1	OMIM:615934
HP:0001877	Abnormal erythrocyte morphology	8792	TNFRSF11A	OMIM:612301
HP:0001877	Abnormal erythrocyte morphology	5095	PCCA	OMIM:606054
HP:0001877	Abnormal erythrocyte morphology	5096	PCCB	OMIM:606054
HP:0001877	Abnormal erythrocyte morphology	6899	TBX1	OMIM:188400
HP:0001877	Abnormal erythrocyte morphology	3070	HELLS	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	83879	CDCA7	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	4582	MUC1	OMIM:174000
HP:0001877	Abnormal erythrocyte morphology	1991	ELANE	OMIM:202700
HP:0001877	Abnormal erythrocyte morphology	1798	DPAGT1	ORPHA:86309
HP:0001877	Abnormal erythrocyte morphology	330	BIRC3	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	10892	MALT1	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	27086	FOXP1	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	3492	IGH	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	8915	BCL10	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	90624	LYRM7	OMIM:615838
HP:0001877	Abnormal erythrocyte morphology	10056	FARSB	OMIM:613658
HP:0001877	Abnormal erythrocyte morphology	493856	CISD2	ORPHA:3463
HP:0001877	Abnormal erythrocyte morphology	375748	ERCC6L2	OMIM:615715
HP:0001877	Abnormal erythrocyte morphology	55719	SLF2	OMIM:620184
HP:0001877	Abnormal erythrocyte morphology	23137	SMC5	OMIM:620185
HP:0001877	Abnormal erythrocyte morphology	7276	TTR	ORPHA:85451
HP:0001877	Abnormal erythrocyte morphology	5627	PROS1	OMIM:614514
HP:0001877	Abnormal erythrocyte morphology	64135	IFIH1	OMIM:615846
HP:0001877	Abnormal erythrocyte morphology	10165	SLC25A13	ORPHA:247598
HP:0001877	Abnormal erythrocyte morphology	866	SERPINA6	OMIM:611489
HP:0001877	Abnormal erythrocyte morphology	3662	IRF4	ORPHA:3452
HP:0001877	Abnormal erythrocyte morphology	6905	TBCE	OMIM:244460
HP:0001877	Abnormal erythrocyte morphology	57817	HAMP	OMIM:613313
HP:0001877	Abnormal erythrocyte morphology	63901	FAM111A	OMIM:127000
HP:0001877	Abnormal erythrocyte morphology	63901	FAM111A	ORPHA:93325
HP:0001877	Abnormal erythrocyte morphology	51750	RTEL1	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	51750	RTEL1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	65057	ACD	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	5073	PARN	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	5073	PARN	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	84876	ORAI1	ORPHA:3204
HP:0001877	Abnormal erythrocyte morphology	3932	LCK	OMIM:615758
HP:0001877	Abnormal erythrocyte morphology	2495	FTH1	OMIM:615517
HP:0001877	Abnormal erythrocyte morphology	27034	ACAD8	OMIM:611283
HP:0001877	Abnormal erythrocyte morphology	3459	IFNGR1	OMIM:209950
HP:0001877	Abnormal erythrocyte morphology	23095	KIF1B	OMIM:256700
HP:0001877	Abnormal erythrocyte morphology	2122	MECOM	OMIM:616738
HP:0001877	Abnormal erythrocyte morphology	79840	NHEJ1	ORPHA:169079
HP:0001877	Abnormal erythrocyte morphology	10320	IKZF1	ORPHA:36426
HP:0001877	Abnormal erythrocyte morphology	27235	COQ2	OMIM:607426
HP:0001877	Abnormal erythrocyte morphology	7037	TFRC	OMIM:616740
HP:0001877	Abnormal erythrocyte morphology	10616	RBCK1	OMIM:615895
HP:0001877	Abnormal erythrocyte morphology	5257	PHKB	ORPHA:79240
HP:0001877	Abnormal erythrocyte morphology	3431	SP110	ORPHA:79124
HP:0001877	Abnormal erythrocyte morphology	3248	HPGD	ORPHA:2796
HP:0001877	Abnormal erythrocyte morphology	6578	SLCO2A1	ORPHA:2796
HP:0001877	Abnormal erythrocyte morphology	197131	UBR1	ORPHA:2315
HP:0001877	Abnormal erythrocyte morphology	7067	THRA	OMIM:614450
HP:0001877	Abnormal erythrocyte morphology	5498	PPOX	ORPHA:79473
HP:0001877	Abnormal erythrocyte morphology	326625	MMAB	OMIM:251110
HP:0001877	Abnormal erythrocyte morphology	3674	ITGA2B	OMIM:187800
HP:0001877	Abnormal erythrocyte morphology	2328	FMO3	OMIM:602079
HP:0001877	Abnormal erythrocyte morphology	9401	RECQL4	ORPHA:221016
HP:0001877	Abnormal erythrocyte morphology	7036	TFR2	OMIM:604250
HP:0001877	Abnormal erythrocyte morphology	189	AGXT	ORPHA:93598
HP:0001877	Abnormal erythrocyte morphology	25915	NDUFAF3	ORPHA:70474
HP:0001877	Abnormal erythrocyte morphology	4714	NDUFB8	ORPHA:70474
HP:0001877	Abnormal erythrocyte morphology	4720	NDUFS2	ORPHA:70474
HP:0001877	Abnormal erythrocyte morphology	4720	NDUFS2	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	9997	SCO2	ORPHA:70474
HP:0001877	Abnormal erythrocyte morphology	81	ACTN4	OMIM:603278
HP:0001877	Abnormal erythrocyte morphology	55278	QRSL1	OMIM:618835
HP:0001877	Abnormal erythrocyte morphology	5188	GATB	OMIM:618838
HP:0001877	Abnormal erythrocyte morphology	283459	GATC	OMIM:618839
HP:0001877	Abnormal erythrocyte morphology	80704	SLC19A3	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	91942	NDUFAF2	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4723	NDUFV1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	55572	FOXRED1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4729	NDUFV2	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	55967	NDUFA12	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	51204	TACO1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4724	NDUFS4	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4728	NDUFS8	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	137682	NDUFAF6	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4722	NDUFS3	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	79133	NDUFAF5	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	5160	PDHA1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	100131801	PET100	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	1355	COX15	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	1892	ECHS1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	123263	MTFMT	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	51079	NDUFA13	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	374291	NDUFS7	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4705	NDUFA10	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	51601	LIPT1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4719	NDUFS1	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4695	NDUFA2	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4697	NDUFA4	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	4704	NDUFA9	ORPHA:255241
HP:0001877	Abnormal erythrocyte morphology	7518	XRCC4	OMIM:616541
HP:0001877	Abnormal erythrocyte morphology	5116	PCNT	ORPHA:2637
HP:0001877	Abnormal erythrocyte morphology	6137	RPL13	OMIM:618728
HP:0001877	Abnormal erythrocyte morphology	9939	RBM8A	OMIM:274000
HP:0001877	Abnormal erythrocyte morphology	80169	CTC1	OMIM:612199
HP:0001877	Abnormal erythrocyte morphology	80169	CTC1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55651	NHP2	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	79650	USB1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55135	WRAP53	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55505	NOP10	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	6929	TCF3	OMIM:619824
HP:0001877	Abnormal erythrocyte morphology	3852	KRT5	ORPHA:79396
HP:0001877	Abnormal erythrocyte morphology	3861	KRT14	ORPHA:79396
HP:0001877	Abnormal erythrocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0001877	Abnormal erythrocyte morphology	10483	SEC23B	OMIM:224100
HP:0001877	Abnormal erythrocyte morphology	3098	HK1	OMIM:235700
HP:0001877	Abnormal erythrocyte morphology	2729	GCLC	ORPHA:33574
HP:0001877	Abnormal erythrocyte morphology	1186	CLCN7	OMIM:611490
HP:0001877	Abnormal erythrocyte morphology	5213	PFKM	OMIM:232800
HP:0001877	Abnormal erythrocyte morphology	5277	PIGA	ORPHA:447
HP:0001877	Abnormal erythrocyte morphology	1371	CPOX	OMIM:618892
HP:0001877	Abnormal erythrocyte morphology	3313	HSPA9	OMIM:182170
HP:0001877	Abnormal erythrocyte morphology	51067	YARS2	OMIM:613561
HP:0001877	Abnormal erythrocyte morphology	23479	ISCU	OMIM:255125
HP:0001877	Abnormal erythrocyte morphology	126410	CYP4F22	OMIM:604777
HP:0001877	Abnormal erythrocyte morphology	4547	MTTP	ORPHA:14
HP:0001877	Abnormal erythrocyte morphology	4547	MTTP	OMIM:200100
HP:0001877	Abnormal erythrocyte morphology	7504	XK	OMIM:300842
HP:0001877	Abnormal erythrocyte morphology	23230	VPS13A	OMIM:200150
HP:0001877	Abnormal erythrocyte morphology	23230	VPS13A	ORPHA:2388
HP:0001877	Abnormal erythrocyte morphology	338	APOB	OMIM:615558
HP:0001877	Abnormal erythrocyte morphology	51128	SAR1B	ORPHA:71
HP:0001877	Abnormal erythrocyte morphology	80025	PANK2	OMIM:607236
HP:0001877	Abnormal erythrocyte morphology	80025	PANK2	OMIM:234200
HP:0001877	Abnormal erythrocyte morphology	63916	ELMO2	OMIM:606893
HP:0001877	Abnormal erythrocyte morphology	7040	TGFB1	OMIM:618213
HP:0001877	Abnormal erythrocyte morphology	7018	TF	OMIM:209300
HP:0001877	Abnormal erythrocyte morphology	9051	PSTPIP1	OMIM:604416
HP:0001877	Abnormal erythrocyte morphology	2658	GDF2	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	94	ACVRL1	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	4089	SMAD4	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	2022	ENG	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	10265	IRX5	OMIM:611174
HP:0001877	Abnormal erythrocyte morphology	2193	FARSA	OMIM:619013
HP:0001877	Abnormal erythrocyte morphology	3572	IL6ST	OMIM:619750
HP:0001877	Abnormal erythrocyte morphology	26007	TKFC	OMIM:618805
HP:0001877	Abnormal erythrocyte morphology	847	CAT	ORPHA:926
HP:0001877	Abnormal erythrocyte morphology	55109	AGGF1	ORPHA:90308
HP:0001877	Abnormal erythrocyte morphology	7456	WIPF1	ORPHA:906
HP:0001877	Abnormal erythrocyte morphology	6609	SMPD1	OMIM:257200
HP:0001877	Abnormal erythrocyte morphology	79644	SRD5A3	ORPHA:324737
HP:0001877	Abnormal erythrocyte morphology	79644	SRD5A3	OMIM:612379
HP:0001877	Abnormal erythrocyte morphology	112812	FDX2	OMIM:251900
HP:0001877	Abnormal erythrocyte morphology	1468	SLC25A10	OMIM:618972
HP:0001877	Abnormal erythrocyte morphology	8737	RIPK1	OMIM:618852
HP:0001877	Abnormal erythrocyte morphology	8803	SUCLA2	OMIM:612073
HP:0001877	Abnormal erythrocyte morphology	3658	IREB2	OMIM:618451
HP:0001877	Abnormal erythrocyte morphology	7010	TEK	ORPHA:1059
HP:0001877	Abnormal erythrocyte morphology	55315	SLC29A3	ORPHA:168569
HP:0001877	Abnormal erythrocyte morphology	2542	SLC37A4	OMIM:619525
HP:0001877	Abnormal erythrocyte morphology	89874	SLC25A21	OMIM:618811
HP:0001877	Abnormal erythrocyte morphology	5696	PSMB8	OMIM:256040
HP:0001877	Abnormal erythrocyte morphology	2235	FECH	ORPHA:79278
HP:0001877	Abnormal erythrocyte morphology	55343	SLC35C1	ORPHA:99843
HP:0001877	Abnormal erythrocyte morphology	3426	CFI	ORPHA:244242
HP:0001877	Abnormal erythrocyte morphology	3426	CFI	OMIM:612923
HP:0001877	Abnormal erythrocyte morphology	4179	CD46	ORPHA:244242
HP:0001877	Abnormal erythrocyte morphology	4179	CD46	OMIM:612922
HP:0001877	Abnormal erythrocyte morphology	101101692	HELLPAR	ORPHA:244242
HP:0001877	Abnormal erythrocyte morphology	6775	STAT4	ORPHA:93552
HP:0001877	Abnormal erythrocyte morphology	6696	SPP1	ORPHA:93552
HP:0001877	Abnormal erythrocyte morphology	3654	IRAK1	ORPHA:93552
HP:0001877	Abnormal erythrocyte morphology	629	CFB	OMIM:612924
HP:0001877	Abnormal erythrocyte morphology	7056	THBD	OMIM:612926
HP:0001877	Abnormal erythrocyte morphology	718	C3	OMIM:612925
HP:0001877	Abnormal erythrocyte morphology	10059	DNM1L	ORPHA:98673
HP:0001877	Abnormal erythrocyte morphology	4976	OPA1	ORPHA:98673
HP:0001877	Abnormal erythrocyte morphology	8029	CUBN	ORPHA:35858
HP:0001877	Abnormal erythrocyte morphology	81693	AMN	ORPHA:35858
HP:0001877	Abnormal erythrocyte morphology	6208	RPS14	ORPHA:86841
HP:0001877	Abnormal erythrocyte morphology	7167	TPI1	OMIM:615512
HP:0001877	Abnormal erythrocyte morphology	119559	SFXN4	OMIM:615578
HP:0001877	Abnormal erythrocyte morphology	6023	RMRP	OMIM:250250
HP:0001877	Abnormal erythrocyte morphology	51520	LARS1	OMIM:615438
HP:0001877	Abnormal erythrocyte morphology	6948	TCN2	OMIM:275350
HP:0001877	Abnormal erythrocyte morphology	3117	HLA-DQA1	OMIM:212750
HP:0001877	Abnormal erythrocyte morphology	3119	HLA-DQB1	OMIM:212750
HP:0001877	Abnormal erythrocyte morphology	5700	PSMC1	OMIM:620071
HP:0001877	Abnormal erythrocyte morphology	7317	UBA1	OMIM:301054
HP:0001877	Abnormal erythrocyte morphology	4522	MTHFD1	OMIM:617780
HP:0001877	Abnormal erythrocyte morphology	1352	COX10	OMIM:619046
HP:0001877	Abnormal erythrocyte morphology	4552	MTRR	ORPHA:2169
HP:0001877	Abnormal erythrocyte morphology	5880	RAC2	OMIM:608203
HP:0001877	Abnormal erythrocyte morphology	9493	KIF23	OMIM:105600
HP:0001877	Abnormal erythrocyte morphology	134218	DNAJC21	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	79631	EFL1	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	51119	SBDS	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	6729	SRP54	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	790	CAD	OMIM:616457
HP:0001877	Abnormal erythrocyte morphology	11093	ADAMTS13	OMIM:274150
HP:0001877	Abnormal erythrocyte morphology	3075	CFH	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	3078	CFHR1	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	10878	CFHR3	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	6309	SC5D	OMIM:607330
HP:0001877	Abnormal erythrocyte morphology	286	ANK1	ORPHA:251066
HP:0001877	Abnormal erythrocyte morphology	286	ANK1	OMIM:182900
HP:0001877	Abnormal erythrocyte morphology	286	ANK1	ORPHA:822
HP:0001877	Abnormal erythrocyte morphology	2038	EPB42	OMIM:612690
HP:0001877	Abnormal erythrocyte morphology	2038	EPB42	ORPHA:822
HP:0001877	Abnormal erythrocyte morphology	9949	AMMECR1	OMIM:300990
HP:0001877	Abnormal erythrocyte morphology	9949	AMMECR1	ORPHA:86818
HP:0001877	Abnormal erythrocyte morphology	23630	KCNE5	ORPHA:86818
HP:0001877	Abnormal erythrocyte morphology	2182	ACSL4	ORPHA:86818
HP:0001877	Abnormal erythrocyte morphology	374354	NHLRC2	OMIM:618278
HP:0001877	Abnormal erythrocyte morphology	51095	TRNT1	OMIM:616959
HP:0001877	Abnormal erythrocyte morphology	760	CA2	ORPHA:2785
HP:0001877	Abnormal erythrocyte morphology	2035	EPB41	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	2995	GYPC	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	6710	SPTB	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	6708	SPTA1	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	OMIM:185000
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	OMIM:268150
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	ORPHA:3203
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	2811	GP1BA	OMIM:153670
HP:0001877	Abnormal erythrocyte morphology	6513	SLC2A1	OMIM:608885
HP:0001877	Abnormal erythrocyte morphology	6513	SLC2A1	ORPHA:168577
HP:0001877	Abnormal erythrocyte morphology	2623	GATA1	OMIM:301083
HP:0001877	Abnormal erythrocyte morphology	6521	SLC4A1	OMIM:185020
HP:0001877	Abnormal erythrocyte morphology	10058	ABCB6	ORPHA:90044
HP:0001877	Abnormal erythrocyte morphology	6006	RHCE	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	6007	RHD	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	64241	ABCG8	OMIM:210250
HP:0001877	Abnormal erythrocyte morphology	55240	STEAP3	OMIM:615234
HP:0001877	Abnormal erythrocyte morphology	7372	UMPS	OMIM:258900
HP:0001877	Abnormal erythrocyte morphology	1861	TOR1A	OMIM:618947
HP:0001877	Abnormal erythrocyte morphology	84529	CDIN1	OMIM:615631
HP:0001877	Abnormal erythrocyte morphology	811	CALR	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	4352	MPL	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	3717	JAK2	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	7390	UROS	ORPHA:79277
HP:0001877	Abnormal erythrocyte morphology	5313	PKLR	ORPHA:766
HP:0001877	Abnormal erythrocyte morphology	374879	ZNF699	OMIM:619488
HP:0001877	Abnormal erythrocyte morphology	2936	GSR	OMIM:618660
HP:0001877	Abnormal erythrocyte morphology	4598	MVK	OMIM:610377
HP:0001877	Abnormal erythrocyte morphology	9419	CRIPT	OMIM:615789
HP:0001877	Abnormal erythrocyte morphology	81570	CLPB	OMIM:619835
HP:0001877	Abnormal erythrocyte morphology	80739	MPIG6B	OMIM:617441
HP:0001877	Abnormal erythrocyte morphology	212	ALAS2	OMIM:300751
HP:0001877	Abnormal erythrocyte morphology	9663	LPIN2	ORPHA:77297
HP:0001877	Abnormal erythrocyte morphology	29775	CARD10	OMIM:619632
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	ORPHA:231214
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	ORPHA:2133
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	OMIM:604131
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	ORPHA:231226
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	OMIM:613985
HP:0001877	Abnormal erythrocyte morphology	131118	DNAJC19	ORPHA:66634
HP:0001877	Abnormal erythrocyte morphology	3040	HBA2	OMIM:604131
HP:0001877	Abnormal erythrocyte morphology	3039	HBA1	OMIM:604131
HP:0001877	Abnormal erythrocyte morphology	546	ATRX	OMIM:301040
HP:0001877	Abnormal erythrocyte morphology	546	ATRX	OMIM:300448
HP:0001877	Abnormal erythrocyte morphology	53335	BCL11A	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	10661	KLF1	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	3047	HBG1	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	3048	HBG2	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	28962	OSTM1	OMIM:259720
HP:0001877	Abnormal erythrocyte morphology	22	ABCB7	OMIM:301310
HP:0001877	Abnormal erythrocyte morphology	3735	KARS1	OMIM:619147
HP:0001877	Abnormal erythrocyte morphology	205327	C2orf69	OMIM:619423
HP:0001877	Abnormal erythrocyte morphology	150274	HSCB	OMIM:619523
HP:0001877	Abnormal erythrocyte morphology	164656	TMPRSS6	OMIM:206200
HP:0001877	Abnormal erythrocyte morphology	1356	CP	ORPHA:48818
HP:0001877	Abnormal erythrocyte morphology	23729	SHPK	ORPHA:440713
HP:0001877	Abnormal erythrocyte morphology	6901	TAFAZZIN	OMIM:302060
HP:0001877	Abnormal erythrocyte morphology	27040	LAT	OMIM:617514
HP:0001877	Abnormal erythrocyte morphology	843	CASP10	OMIM:603909
HP:0001877	Abnormal erythrocyte morphology	843	CASP10	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	355	FAS	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	355	FAS	OMIM:601859
HP:0001877	Abnormal erythrocyte morphology	356	FASLG	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	356	FASLG	OMIM:601859
HP:0001877	Abnormal erythrocyte morphology	5580	PRKCD	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	10125	RASGRP1	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	50943	FOXP3	OMIM:304790
HP:0001877	Abnormal erythrocyte morphology	3162	HMOX1	OMIM:614034
HP:0001877	Abnormal erythrocyte morphology	7293	TNFRSF4	OMIM:615593
HP:0001877	Abnormal erythrocyte morphology	8651	SOCS1	OMIM:619375
HP:0001877	Abnormal erythrocyte morphology	113235	SLC46A1	OMIM:229050
HP:0001877	Abnormal erythrocyte morphology	6573	SLC19A1	OMIM:601775
HP:0001877	Abnormal erythrocyte morphology	5728	PTEN	ORPHA:79076
HP:0001877	Abnormal erythrocyte morphology	657	BMPR1A	ORPHA:79076
HP:0001877	Abnormal erythrocyte morphology	657	BMPR1A	ORPHA:157794
HP:0001877	Abnormal erythrocyte morphology	6916	TBXAS1	OMIM:231095
HP:0001877	Abnormal erythrocyte morphology	51428	DDX41	OMIM:616871
HP:0001877	Abnormal erythrocyte morphology	26585	GREM1	ORPHA:157794
HP:0001877	Abnormal erythrocyte morphology	3978	LIG1	OMIM:619774
HP:0001877	Abnormal erythrocyte morphology	219285	SAMD9L	OMIM:252270
HP:0001877	Abnormal erythrocyte morphology	27249	MMADHC	OMIM:277410
HP:0001877	Abnormal erythrocyte morphology	1719	DHFR	OMIM:613839
HP:0001877	Abnormal erythrocyte morphology	1854	DUT	OMIM:620044
HP:0001877	Abnormal erythrocyte morphology	54809	SAMD9	OMIM:619041
HP:0001877	Abnormal erythrocyte morphology	23395	LARS2	OMIM:617021
HP:0001877	Abnormal erythrocyte morphology	29123	ANKRD11	ORPHA:261250
HP:0001877	Abnormal erythrocyte morphology	2120	ETV6	OMIM:616216
HP:0001877	Abnormal erythrocyte morphology	26277	TINF2	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	7012	TERC	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	55163	PNPO	ORPHA:79096
HP:0001877	Abnormal erythrocyte morphology	672	BRCA1	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	10459	MAD2L2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	7516	XRCC2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	29089	UBE2T	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	675	BRCA2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	55120	FANCL	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2177	FANCD2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2175	FANCA	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2187	FANCB	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2176	FANCC	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2178	FANCE	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2188	FANCF	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2189	FANCG	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	5888	RAD51	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	5889	RAD51C	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	55159	RFWD3	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	83990	BRIP1	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	57697	FANCM	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	79728	PALB2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	84464	SLX4	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2072	ERCC4	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	55215	FANCI	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2821	GPI	OMIM:613470
HP:0001877	Abnormal erythrocyte morphology	6135	RPL11	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6138	RPL15	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6229	RPS24	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6125	RPL5	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6204	RPS10	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6224	RPS20	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6165	RPL35A	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6223	RPS19	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6232	RPS27	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6231	RPS26	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	11224	RPL35	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6160	RPL31	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6218	RPS17	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6201	RPS7	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6155	RPL27	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6154	RPL26	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6210	RPS15A	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	90121	TSR2	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6141	RPL18	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6235	RPS29	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6234	RPS28	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	51816	ADA2	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	29127	RACGAP1	OMIM:619789
HP:0001877	Abnormal erythrocyte morphology	146059	CDAN1	OMIM:224120
HP:0001877	Abnormal erythrocyte morphology	9780	PIEZO1	OMIM:194380
HP:0001877	Abnormal erythrocyte morphology	84701	COX4I2	OMIM:612714
HP:0001877	Abnormal erythrocyte morphology	91647	ATPAF2	OMIM:604273
HP:0001877	Abnormal erythrocyte morphology	7066	THPO	ORPHA:3319
HP:0001877	Abnormal erythrocyte morphology	2057	EPOR	ORPHA:90042
HP:0001877	Abnormal erythrocyte morphology	3045	HBD	ORPHA:231237
HP:0001877	Abnormal erythrocyte morphology	5631	PRPS1	ORPHA:423479
HP:0001877	Abnormal erythrocyte morphology	4194	MDM4	OMIM:618849
HP:0001877	Abnormal erythrocyte morphology	51341	ZBTB7A	OMIM:619769
HP:0001877	Abnormal erythrocyte morphology	1528	CYB5A	ORPHA:621
HP:0001877	Abnormal erythrocyte morphology	1528	CYB5A	OMIM:250790
HP:0001877	Abnormal erythrocyte morphology	2065	ERBB3	OMIM:133180
HP:0001877	Abnormal erythrocyte morphology	7389	UROD	ORPHA:95159
HP:0001877	Abnormal erythrocyte morphology	55027	HEATR3	OMIM:620072
HP:0001877	Abnormal erythrocyte morphology	7157	TP53	OMIM:618165
HP:0001877	Abnormal erythrocyte morphology	92579	G6PC3	OMIM:612541
HP:0001877	Abnormal erythrocyte morphology	5230	PGK1	ORPHA:713
HP:0001877	Abnormal erythrocyte morphology	8567	MADD	OMIM:619004
HP:0001877	Abnormal erythrocyte morphology	8567	MADD	OMIM:619005
HP:0001877	Abnormal erythrocyte morphology	80324	PUS1	OMIM:600462
HP:0001877	Abnormal erythrocyte morphology	8573	CASK	OMIM:300908
HP:0001877	Abnormal erythrocyte morphology	2539	G6PD	OMIM:300908
HP:0001877	Abnormal erythrocyte morphology	2876	GPX1	OMIM:614164
HP:0001877	Abnormal erythrocyte morphology	3783	KCNN4	OMIM:616689
HP:0001877	Abnormal erythrocyte morphology	51218	GLRX5	OMIM:616860
HP:0001877	Abnormal erythrocyte morphology	4891	SLC11A2	OMIM:206100
HP:0001877	Abnormal erythrocyte morphology	54977	SLC25A38	OMIM:205950
HP:0001877	Abnormal erythrocyte morphology	2592	GALT	ORPHA:79239
HP:0001877	Abnormal erythrocyte morphology	3795	KHK	ORPHA:2056
HP:0001877	Abnormal erythrocyte morphology	210	ALAD	ORPHA:100924
HP:0001877	Abnormal erythrocyte morphology	5256	PHKA2	ORPHA:264580
HP:0001877	Abnormal erythrocyte morphology	5261	PHKG2	ORPHA:264580
HP:0001877	Abnormal erythrocyte morphology	8328	GFI1B	OMIM:187900
HP:0001877	Abnormal erythrocyte morphology	8772	FADD	OMIM:613759
HP:0001877	Abnormal erythrocyte morphology	3921	RPSA	OMIM:271400
HP:0001877	Abnormal erythrocyte morphology	6786	STIM1	OMIM:185070
HP:0001877	Abnormal erythrocyte morphology	2056	EPO	OMIM:617911
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	OMIM:610582
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	OMIM:616329
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	8462	KLF11	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	2645	GCK	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	2645	GCK	OMIM:606176
HP:0001877	Abnormal erythrocyte morphology	26060	APPL1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	26060	APPL1	OMIM:616511
HP:0001877	Abnormal erythrocyte morphology	640	BLK	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	1056	CEL	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	1056	CEL	OMIM:609812
HP:0001877	Abnormal erythrocyte morphology	4760	NEUROD1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3651	PDX1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6833	ABCC8	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6833	ABCC8	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	5078	PAX4	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3172	HNF4A	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6927	HNF1A	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3630	INS	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3630	INS	OMIM:618858
HP:0001877	Abnormal erythrocyte morphology	5611	DNAJC3	OMIM:616192
HP:0001877	Abnormal erythrocyte morphology	6524	SLC5A2	ORPHA:69076
HP:0001877	Abnormal erythrocyte morphology	81555	YIPF5	OMIM:619278
HP:0001877	Abnormal erythrocyte morphology	286053	NSMCE2	OMIM:617253
HP:0001877	Abnormal erythrocyte morphology	63036	CELA2A	OMIM:618620
HP:0001877	Abnormal erythrocyte morphology	10651	MTX2	OMIM:619127
HP:0001877	Abnormal erythrocyte morphology	23312	DMXL2	OMIM:616113
HP:0001877	Abnormal erythrocyte morphology	26580	BSCL2	OMIM:269700
HP:0001877	Abnormal erythrocyte morphology	641	BLM	OMIM:210900
HP:0001877	Abnormal erythrocyte morphology	57570	TRMT5	OMIM:616539
HP:0001877	Abnormal erythrocyte morphology	7486	WRN	OMIM:277700
HP:0001877	Abnormal erythrocyte morphology	79731	NARS2	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	2694	CBLIF	OMIM:261000
HP:0001877	Abnormal erythrocyte morphology	54790	TET2	ORPHA:75564
HP:0001877	Abnormal erythrocyte morphology	23451	SF3B1	ORPHA:75564
HP:0001879	Abnormal eosinophil morphology	7456	WIPF1	ORPHA:906
HP:0001879	Abnormal eosinophil morphology	2859	GPR35	ORPHA:171
HP:0001879	Abnormal eosinophil morphology	10507	SEMA4D	ORPHA:171
HP:0001879	Abnormal eosinophil morphology	4485	MST1	ORPHA:171
HP:0001879	Abnormal eosinophil morphology	6925	TCF4	ORPHA:171
HP:0001879	Abnormal eosinophil morphology	355	FAS	ORPHA:3261
HP:0001879	Abnormal eosinophil morphology	355	FAS	OMIM:601859
HP:0001879	Abnormal eosinophil morphology	356	FASLG	ORPHA:3261
HP:0001879	Abnormal eosinophil morphology	356	FASLG	OMIM:601859
HP:0001879	Abnormal eosinophil morphology	5580	PRKCD	ORPHA:3261
HP:0001879	Abnormal eosinophil morphology	843	CASP10	ORPHA:3261
HP:0001879	Abnormal eosinophil morphology	843	CASP10	OMIM:603909
HP:0001879	Abnormal eosinophil morphology	10125	RASGRP1	ORPHA:3261
HP:0001879	Abnormal eosinophil morphology	7454	WAS	OMIM:301000
HP:0001879	Abnormal eosinophil morphology	30009	TBX21	OMIM:619630
HP:0001879	Abnormal eosinophil morphology	5159	PDGFRB	OMIM:131440
HP:0001879	Abnormal eosinophil morphology	6774	STAT3	OMIM:615952
HP:0001879	Abnormal eosinophil morphology	6774	STAT3	OMIM:147060
HP:0001879	Abnormal eosinophil morphology	6774	STAT3	ORPHA:2314
HP:0001879	Abnormal eosinophil morphology	5238	PGM3	ORPHA:443811
HP:0001879	Abnormal eosinophil morphology	5238	PGM3	OMIM:615816
HP:0001879	Abnormal eosinophil morphology	171023	ASXL1	ORPHA:98849
HP:0001879	Abnormal eosinophil morphology	54790	TET2	ORPHA:98849
HP:0001879	Abnormal eosinophil morphology	3815	KIT	ORPHA:98849
HP:0001879	Abnormal eosinophil morphology	6427	SRSF2	ORPHA:98849
HP:0001879	Abnormal eosinophil morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001879	Abnormal eosinophil morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001879	Abnormal eosinophil morphology	5156	PDGFRA	OMIM:607685
HP:0001879	Abnormal eosinophil morphology	6023	RMRP	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	55636	CHD7	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	3981	LIG4	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	5896	RAG1	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	5896	RAG1	OMIM:603554
HP:0001879	Abnormal eosinophil morphology	5896	RAG1	ORPHA:331206
HP:0001879	Abnormal eosinophil morphology	5897	RAG2	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	5897	RAG2	OMIM:603554
HP:0001879	Abnormal eosinophil morphology	5897	RAG2	ORPHA:331206
HP:0001879	Abnormal eosinophil morphology	64421	DCLRE1C	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	64421	DCLRE1C	OMIM:603554
HP:0001879	Abnormal eosinophil morphology	64421	DCLRE1C	OMIM:602450
HP:0001879	Abnormal eosinophil morphology	100	ADA	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	100	ADA	OMIM:102700
HP:0001879	Abnormal eosinophil morphology	3575	IL7R	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	3575	IL7R	ORPHA:169154
HP:0001879	Abnormal eosinophil morphology	3561	IL2RG	ORPHA:39041
HP:0001879	Abnormal eosinophil morphology	50943	FOXP3	OMIM:304790
HP:0001879	Abnormal eosinophil morphology	825	CAPN3	OMIM:253600
HP:0001879	Abnormal eosinophil morphology	113235	SLC46A1	ORPHA:90045
HP:0001879	Abnormal eosinophil morphology	1041	CDSN	OMIM:270300
HP:0001879	Abnormal eosinophil morphology	8517	IKBKG	ORPHA:464
HP:0001879	Abnormal eosinophil morphology	8517	IKBKG	OMIM:308300
HP:0001879	Abnormal eosinophil morphology	6720	SREBF1	OMIM:158310
HP:0001879	Abnormal eosinophil morphology	2137	EXTL3	OMIM:617425
HP:0001879	Abnormal eosinophil morphology	3716	JAK1	OMIM:618999
HP:0001879	Abnormal eosinophil morphology	5294	PIK3CG	OMIM:619802
HP:0001879	Abnormal eosinophil morphology	114548	NLRP3	OMIM:607115
HP:0001879	Abnormal eosinophil morphology	84905	ZNF341	OMIM:618282
HP:0001879	Abnormal eosinophil morphology	915	CD3D	ORPHA:169160
HP:0001879	Abnormal eosinophil morphology	916	CD3E	ORPHA:169160
HP:0001879	Abnormal eosinophil morphology	919	CD247	ORPHA:169160
HP:0001879	Abnormal eosinophil morphology	919	CD247	OMIM:610163
HP:0001879	Abnormal eosinophil morphology	10999	SLC27A4	ORPHA:88621
HP:0001879	Abnormal eosinophil morphology	3394	IRF8	OMIM:226990
HP:0001879	Abnormal eosinophil morphology	64919	BCL11B	OMIM:617237
HP:0001879	Abnormal eosinophil morphology	64919	BCL11B	OMIM:618092
HP:0001879	Abnormal eosinophil morphology	3572	IL6ST	OMIM:618523
HP:0001879	Abnormal eosinophil morphology	84433	CARD11	OMIM:617638
HP:0001879	Abnormal eosinophil morphology	9939	RBM8A	OMIM:274000
HP:0001879	Abnormal eosinophil morphology	10312	TCIRG1	ORPHA:486
HP:0001879	Abnormal eosinophil morphology	1991	ELANE	ORPHA:486
HP:0001879	Abnormal eosinophil morphology	1991	ELANE	OMIM:202700
HP:0001879	Abnormal eosinophil morphology	2672	GFI1	ORPHA:486
HP:0001879	Abnormal eosinophil morphology	6729	SRP54	ORPHA:486
HP:0001879	Abnormal eosinophil morphology	81570	CLPB	ORPHA:486
HP:0001879	Abnormal eosinophil morphology	81704	DOCK8	OMIM:243700
HP:0001879	Abnormal eosinophil morphology	7535	ZAP70	ORPHA:911
HP:0001879	Abnormal eosinophil morphology	56244	BTNL2	ORPHA:797
HP:0001879	Abnormal eosinophil morphology	3123	HLA-DRB1	ORPHA:797
HP:0001879	Abnormal eosinophil morphology	84196	USP48	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	7157	TP53	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	9101	USP8	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	64072	CDH23	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	2908	NR3C1	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	673	BRAF	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	546	ATRX	ORPHA:96253
HP:0001879	Abnormal eosinophil morphology	29775	CARD10	OMIM:619632
HP:0001879	Abnormal eosinophil morphology	11005	SPINK5	OMIM:256500
HP:0001879	Abnormal eosinophil morphology	64170	CARD9	OMIM:212050
HP:0001879	Abnormal eosinophil morphology	10526	IPO8	OMIM:619472
HP:0001879	Abnormal eosinophil morphology	28755	TRAC	OMIM:615387
HP:0001879	Abnormal eosinophil morphology	22861	NLRP1	OMIM:617388
HP:0001879	Abnormal eosinophil morphology	8288	EPX	OMIM:261500
HP:0001880	Eosinophilia	355	FAS	ORPHA:3261
HP:0001880	Eosinophilia	355	FAS	OMIM:601859
HP:0001880	Eosinophilia	356	FASLG	ORPHA:3261
HP:0001880	Eosinophilia	356	FASLG	OMIM:601859
HP:0001880	Eosinophilia	5580	PRKCD	ORPHA:3261
HP:0001880	Eosinophilia	843	CASP10	ORPHA:3261
HP:0001880	Eosinophilia	843	CASP10	OMIM:603909
HP:0001880	Eosinophilia	10125	RASGRP1	ORPHA:3261
HP:0001880	Eosinophilia	7454	WAS	OMIM:301000
HP:0001880	Eosinophilia	30009	TBX21	OMIM:619630
HP:0001880	Eosinophilia	5159	PDGFRB	OMIM:131440
HP:0001880	Eosinophilia	6774	STAT3	OMIM:615952
HP:0001880	Eosinophilia	6774	STAT3	OMIM:147060
HP:0001880	Eosinophilia	6774	STAT3	ORPHA:2314
HP:0001880	Eosinophilia	5238	PGM3	ORPHA:443811
HP:0001880	Eosinophilia	5238	PGM3	OMIM:615816
HP:0001880	Eosinophilia	171023	ASXL1	ORPHA:98849
HP:0001880	Eosinophilia	54790	TET2	ORPHA:98849
HP:0001880	Eosinophilia	3815	KIT	ORPHA:98849
HP:0001880	Eosinophilia	6427	SRSF2	ORPHA:98849
HP:0001880	Eosinophilia	100151683	RNU4ATAC	ORPHA:353298
HP:0001880	Eosinophilia	100151683	RNU4ATAC	OMIM:616651
HP:0001880	Eosinophilia	5156	PDGFRA	OMIM:607685
HP:0001880	Eosinophilia	6023	RMRP	ORPHA:39041
HP:0001880	Eosinophilia	55636	CHD7	ORPHA:39041
HP:0001880	Eosinophilia	3981	LIG4	ORPHA:39041
HP:0001880	Eosinophilia	5896	RAG1	ORPHA:39041
HP:0001880	Eosinophilia	5896	RAG1	OMIM:603554
HP:0001880	Eosinophilia	5896	RAG1	ORPHA:331206
HP:0001880	Eosinophilia	5897	RAG2	ORPHA:39041
HP:0001880	Eosinophilia	5897	RAG2	OMIM:603554
HP:0001880	Eosinophilia	5897	RAG2	ORPHA:331206
HP:0001880	Eosinophilia	64421	DCLRE1C	ORPHA:39041
HP:0001880	Eosinophilia	64421	DCLRE1C	OMIM:603554
HP:0001880	Eosinophilia	64421	DCLRE1C	OMIM:602450
HP:0001880	Eosinophilia	100	ADA	ORPHA:39041
HP:0001880	Eosinophilia	100	ADA	OMIM:102700
HP:0001880	Eosinophilia	3575	IL7R	ORPHA:39041
HP:0001880	Eosinophilia	3575	IL7R	ORPHA:169154
HP:0001880	Eosinophilia	3561	IL2RG	ORPHA:39041
HP:0001880	Eosinophilia	50943	FOXP3	OMIM:304790
HP:0001880	Eosinophilia	825	CAPN3	OMIM:253600
HP:0001880	Eosinophilia	113235	SLC46A1	ORPHA:90045
HP:0001880	Eosinophilia	1041	CDSN	OMIM:270300
HP:0001880	Eosinophilia	8517	IKBKG	ORPHA:464
HP:0001880	Eosinophilia	8517	IKBKG	OMIM:308300
HP:0001880	Eosinophilia	6720	SREBF1	OMIM:158310
HP:0001880	Eosinophilia	2137	EXTL3	OMIM:617425
HP:0001880	Eosinophilia	3716	JAK1	OMIM:618999
HP:0001880	Eosinophilia	5294	PIK3CG	OMIM:619802
HP:0001880	Eosinophilia	114548	NLRP3	OMIM:607115
HP:0001880	Eosinophilia	84905	ZNF341	OMIM:618282
HP:0001880	Eosinophilia	915	CD3D	ORPHA:169160
HP:0001880	Eosinophilia	916	CD3E	ORPHA:169160
HP:0001880	Eosinophilia	919	CD247	ORPHA:169160
HP:0001880	Eosinophilia	919	CD247	OMIM:610163
HP:0001880	Eosinophilia	10999	SLC27A4	ORPHA:88621
HP:0001880	Eosinophilia	3394	IRF8	OMIM:226990
HP:0001880	Eosinophilia	64919	BCL11B	OMIM:617237
HP:0001880	Eosinophilia	64919	BCL11B	OMIM:618092
HP:0001880	Eosinophilia	3572	IL6ST	OMIM:618523
HP:0001880	Eosinophilia	84433	CARD11	OMIM:617638
HP:0001880	Eosinophilia	9939	RBM8A	OMIM:274000
HP:0001880	Eosinophilia	10312	TCIRG1	ORPHA:486
HP:0001880	Eosinophilia	1991	ELANE	ORPHA:486
HP:0001880	Eosinophilia	1991	ELANE	OMIM:202700
HP:0001880	Eosinophilia	2672	GFI1	ORPHA:486
HP:0001880	Eosinophilia	6729	SRP54	ORPHA:486
HP:0001880	Eosinophilia	81570	CLPB	ORPHA:486
HP:0001880	Eosinophilia	81704	DOCK8	OMIM:243700
HP:0001880	Eosinophilia	7535	ZAP70	ORPHA:911
HP:0001880	Eosinophilia	56244	BTNL2	ORPHA:797
HP:0001880	Eosinophilia	3123	HLA-DRB1	ORPHA:797
HP:0001880	Eosinophilia	11005	SPINK5	OMIM:256500
HP:0001880	Eosinophilia	64170	CARD9	OMIM:212050
HP:0001880	Eosinophilia	10526	IPO8	OMIM:619472
HP:0001880	Eosinophilia	28755	TRAC	OMIM:615387
HP:0001880	Eosinophilia	22861	NLRP1	OMIM:617388
HP:0001881	Abnormal leukocyte morphology	9015	TAF1A	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	5663	PSEN1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	6389	SDHA	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7112	TMPO	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	9464	HAND2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	4625	MYH7	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	88	ACTN2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	10486	CAP2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	10060	ABCC9	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7168	TPM1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7414	VCL	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	1832	DSP	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	70	ACTC1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	27063	ANKRD1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	8048	CSRP3	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	1410	CRYAB	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	4000	LMNA	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7139	TNNT2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	1829	DSG2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	3910	LAMA4	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	63976	PRDM16	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7273	TTN	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	10587	TXNRD2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	9531	BAG3	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	5350	PLN	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	91624	NEXN	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	79717	PPCS	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	5664	PSEN2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	4624	MYH6	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	9529	BAG5	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	4607	MYBPC3	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	282996	RBM20	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7137	TNNI3	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	11155	LDB3	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	2274	FHL2	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	22845	DOLK	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	5894	RAF1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	1756	DMD	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	57798	GATAD1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	7134	TNNC1	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	84665	MYPN	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	1674	DES	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	6444	SGCD	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	6331	SCN5A	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	2218	FKTN	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	8557	TCAP	ORPHA:154
HP:0001881	Abnormal leukocyte morphology	3106	HLA-B	ORPHA:36426
HP:0001881	Abnormal leukocyte morphology	80169	CTC1	ORPHA:1775
HP:0001881	Abnormal leukocyte morphology	55651	NHP2	ORPHA:1775
HP:0001881	Abnormal leukocyte morphology	55135	WRAP53	ORPHA:1775
HP:0001881	Abnormal leukocyte morphology	55505	NOP10	ORPHA:1775
HP:0001881	Abnormal leukocyte morphology	7298	TYMS	ORPHA:1775
HP:0001881	Abnormal leukocyte morphology	4689	NCF4	ORPHA:379
HP:0001881	Abnormal leukocyte morphology	26235	FBXL4	OMIM:615471
HP:0001881	Abnormal leukocyte morphology	23241	PACS2	OMIM:618067
HP:0001881	Abnormal leukocyte morphology	959	CD40LG	OMIM:308230
HP:0001881	Abnormal leukocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0001881	Abnormal leukocyte morphology	10559	SLC35A1	OMIM:603585
HP:0001881	Abnormal leukocyte morphology	4552	MTRR	ORPHA:2169
HP:0001881	Abnormal leukocyte morphology	55788	LMBRD1	OMIM:277380
HP:0001881	Abnormal leukocyte morphology	55788	LMBRD1	ORPHA:79284
HP:0001881	Abnormal leukocyte morphology	2122	MECOM	OMIM:616738
HP:0001881	Abnormal leukocyte morphology	2530	FUT8	OMIM:618005
HP:0001881	Abnormal leukocyte morphology	7037	TFRC	OMIM:616740
HP:0001881	Abnormal leukocyte morphology	816	CAMK2B	OMIM:617799
HP:0001881	Abnormal leukocyte morphology	28956	LAMTOR2	ORPHA:90023
HP:0001881	Abnormal leukocyte morphology	28956	LAMTOR2	OMIM:610798
HP:0001881	Abnormal leukocyte morphology	5095	PCCA	OMIM:606054
HP:0001881	Abnormal leukocyte morphology	5096	PCCB	OMIM:606054
HP:0001881	Abnormal leukocyte morphology	112812	FDX2	OMIM:251900
HP:0001881	Abnormal leukocyte morphology	958	CD40	OMIM:606843
HP:0001881	Abnormal leukocyte morphology	4700	NDUFA6	OMIM:618253
HP:0001881	Abnormal leukocyte morphology	5826	ABCD4	OMIM:614857
HP:0001881	Abnormal leukocyte morphology	326625	MMAB	OMIM:251110
HP:0001881	Abnormal leukocyte morphology	2328	FMO3	OMIM:602079
HP:0001881	Abnormal leukocyte morphology	8943	AP3D1	OMIM:617050
HP:0001881	Abnormal leukocyte morphology	29927	SEC61A1	OMIM:617056
HP:0001881	Abnormal leukocyte morphology	4796	TONSL	ORPHA:93357
HP:0001881	Abnormal leukocyte morphology	4796	TONSL	OMIM:271510
HP:0001881	Abnormal leukocyte morphology	166785	MMAA	OMIM:251100
HP:0001881	Abnormal leukocyte morphology	25839	COG4	OMIM:618150
HP:0001881	Abnormal leukocyte morphology	150274	HSCB	OMIM:619523
HP:0001881	Abnormal leukocyte morphology	2937	GSS	OMIM:266130
HP:0001881	Abnormal leukocyte morphology	84522	JAGN1	OMIM:616022
HP:0001881	Abnormal leukocyte morphology	25974	MMACHC	ORPHA:79282
HP:0001881	Abnormal leukocyte morphology	25974	MMACHC	OMIM:277400
HP:0001881	Abnormal leukocyte morphology	51567	TDP2	OMIM:616949
HP:0001881	Abnormal leukocyte morphology	833	CARS1	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	2068	ERCC2	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	7737	RNF113A	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	6897	TARS1	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	2071	ERCC3	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0001881	Abnormal leukocyte morphology	27429	HTRA2	OMIM:617248
HP:0001881	Abnormal leukocyte morphology	7319	UBE2A	ORPHA:163956
HP:0001881	Abnormal leukocyte morphology	55294	FBXW7	OMIM:620012
HP:0001881	Abnormal leukocyte morphology	5052	PRDX1	OMIM:277400
HP:0001881	Abnormal leukocyte morphology	56262	LRRC8A	ORPHA:33110
HP:0001881	Abnormal leukocyte morphology	30009	TBX21	OMIM:619630
HP:0001881	Abnormal leukocyte morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001881	Abnormal leukocyte morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001881	Abnormal leukocyte morphology	825	CAPN3	OMIM:253600
HP:0001881	Abnormal leukocyte morphology	113235	SLC46A1	ORPHA:90045
HP:0001881	Abnormal leukocyte morphology	1041	CDSN	OMIM:270300
HP:0001881	Abnormal leukocyte morphology	6720	SREBF1	OMIM:158310
HP:0001881	Abnormal leukocyte morphology	3716	JAK1	OMIM:618999
HP:0001881	Abnormal leukocyte morphology	84905	ZNF341	OMIM:618282
HP:0001881	Abnormal leukocyte morphology	10999	SLC27A4	ORPHA:88621
HP:0001881	Abnormal leukocyte morphology	1186	CLCN7	ORPHA:53
HP:0001881	Abnormal leukocyte morphology	51750	RTEL1	ORPHA:3322
HP:0001881	Abnormal leukocyte morphology	65057	ACD	ORPHA:3322
HP:0001881	Abnormal leukocyte morphology	5073	PARN	ORPHA:3322
HP:0001881	Abnormal leukocyte morphology	6916	TBXAS1	OMIM:231095
HP:0001881	Abnormal leukocyte morphology	375748	ERCC6L2	OMIM:615715
HP:0001881	Abnormal leukocyte morphology	55719	SLF2	OMIM:620184
HP:0001881	Abnormal leukocyte morphology	79650	USB1	OMIM:604173
HP:0001881	Abnormal leukocyte morphology	55593	OTUD5	OMIM:301056
HP:0001881	Abnormal leukocyte morphology	374879	ZNF699	OMIM:619488
HP:0001881	Abnormal leukocyte morphology	11311	VPS45	OMIM:615285
HP:0001881	Abnormal leukocyte morphology	65082	VPS33A	OMIM:617303
HP:0001881	Abnormal leukocyte morphology	65082	VPS33A	ORPHA:505248
HP:0001881	Abnormal leukocyte morphology	3516	RBPJ	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	4851	NOTCH1	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	57514	ARHGAP31	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	57572	DOCK6	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	285203	EOGT	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	54567	DLL4	ORPHA:974
HP:0001881	Abnormal leukocyte morphology	2188	FANCF	OMIM:603467
HP:0001881	Abnormal leukocyte morphology	2188	FANCF	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	537	ATP6AP1	OMIM:300972
HP:0001881	Abnormal leukocyte morphology	672	BRCA1	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	10459	MAD2L2	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	7516	XRCC2	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	55120	FANCL	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	2187	FANCB	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	5888	RAD51	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	5889	RAD51C	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	55159	RFWD3	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	83990	BRIP1	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	57697	FANCM	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	79728	PALB2	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	84464	SLX4	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	2072	ERCC4	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	55215	FANCI	ORPHA:84
HP:0001881	Abnormal leukocyte morphology	4594	MMUT	OMIM:251000
HP:0001881	Abnormal leukocyte morphology	23479	ISCU	OMIM:255125
HP:0001881	Abnormal leukocyte morphology	157680	VPS13B	OMIM:216550
HP:0001881	Abnormal leukocyte morphology	5277	PIGA	ORPHA:447
HP:0001881	Abnormal leukocyte morphology	3712	IVD	OMIM:243500
HP:0001881	Abnormal leukocyte morphology	26258	BLOC1S6	OMIM:614171
HP:0001881	Abnormal leukocyte morphology	2212	FCGR2A	OMIM:152700
HP:0001881	Abnormal leukocyte morphology	2213	FCGR2B	OMIM:152700
HP:0001881	Abnormal leukocyte morphology	1773	DNASE1	OMIM:152700
HP:0001881	Abnormal leukocyte morphology	54938	SARS2	OMIM:613845
HP:0001881	Abnormal leukocyte morphology	7390	UROS	ORPHA:79277
HP:0001881	Abnormal leukocyte morphology	760	CA2	ORPHA:2785
HP:0001881	Abnormal leukocyte morphology	2629	GBA1	ORPHA:77259
HP:0001881	Abnormal leukocyte morphology	950	SCARB2	ORPHA:77259
HP:0001881	Abnormal leukocyte morphology	5728	PTEN	OMIM:605309
HP:0001881	Abnormal leukocyte morphology	5728	PTEN	OMIM:158350
HP:0001881	Abnormal leukocyte morphology	54892	NCAPG2	OMIM:618460
HP:0001881	Abnormal leukocyte morphology	22800	RRAS2	OMIM:618624
HP:0001881	Abnormal leukocyte morphology	6775	STAT4	ORPHA:93552
HP:0001881	Abnormal leukocyte morphology	6696	SPP1	ORPHA:93552
HP:0001881	Abnormal leukocyte morphology	3654	IRAK1	ORPHA:93552
HP:0001881	Abnormal leukocyte morphology	11151	CORO1A	OMIM:615401
HP:0001881	Abnormal leukocyte morphology	26277	TINF2	OMIM:127550
HP:0001881	Abnormal leukocyte morphology	3930	LBR	OMIM:613471
HP:0001881	Abnormal leukocyte morphology	7128	TNFAIP3	OMIM:616744
HP:0001881	Abnormal leukocyte morphology	340061	STING1	OMIM:615934
HP:0001881	Abnormal leukocyte morphology	4478	MSN	OMIM:300988
HP:0001881	Abnormal leukocyte morphology	3070	HELLS	ORPHA:2268
HP:0001881	Abnormal leukocyte morphology	83879	CDCA7	ORPHA:2268
HP:0001881	Abnormal leukocyte morphology	4790	NFKB1	ORPHA:1572
HP:0001881	Abnormal leukocyte morphology	8742	TNFSF12	ORPHA:1572
HP:0001881	Abnormal leukocyte morphology	200734	SPRED2	OMIM:619745
HP:0001881	Abnormal leukocyte morphology	8883	NAE1	OMIM:620210
HP:0001881	Abnormal leukocyte morphology	80185	TTI2	ORPHA:391307
HP:0001881	Abnormal leukocyte morphology	54809	SAMD9	OMIM:617053
HP:0001881	Abnormal leukocyte morphology	8879	SGPL1	OMIM:617575
HP:0001881	Abnormal leukocyte morphology	9508	ADAMTS3	ORPHA:2136
HP:0001881	Abnormal leukocyte morphology	147372	CCBE1	ORPHA:2136
HP:0001881	Abnormal leukocyte morphology	79633	FAT4	ORPHA:2136
HP:0001881	Abnormal leukocyte morphology	6789	STK4	OMIM:614868
HP:0001881	Abnormal leukocyte morphology	7036	TFR2	OMIM:604250
HP:0001881	Abnormal leukocyte morphology	51284	TLR7	OMIM:301080
HP:0001881	Abnormal leukocyte morphology	6948	TCN2	ORPHA:859
HP:0001881	Abnormal leukocyte morphology	64135	IFIH1	OMIM:619773
HP:0001881	Abnormal leukocyte morphology	5692	PSMB4	OMIM:617591
HP:0001881	Abnormal leukocyte morphology	5698	PSMB9	OMIM:617591
HP:0001881	Abnormal leukocyte morphology	4194	MDM4	OMIM:618849
HP:0001881	Abnormal leukocyte morphology	404672	GTF2H5	OMIM:616395
HP:0001881	Abnormal leukocyte morphology	9652	SKIC3	ORPHA:84064
HP:0001881	Abnormal leukocyte morphology	6499	SKIC2	ORPHA:84064
HP:0001881	Abnormal leukocyte morphology	5297	PI4KA	OMIM:619708
HP:0001881	Abnormal leukocyte morphology	2215	FCGR3B	ORPHA:464370
HP:0001881	Abnormal leukocyte morphology	7174	TPP2	OMIM:619220
HP:0001881	Abnormal leukocyte morphology	4860	PNP	OMIM:613179
HP:0001881	Abnormal leukocyte morphology	83737	ITCH	ORPHA:228426
HP:0001881	Abnormal leukocyte morphology	2177	FANCD2	OMIM:227646
HP:0001881	Abnormal leukocyte morphology	2176	FANCC	OMIM:227645
HP:0001881	Abnormal leukocyte morphology	2189	FANCG	OMIM:614082
HP:0001881	Abnormal leukocyte morphology	8294	H4C9	OMIM:619951
HP:0001881	Abnormal leukocyte morphology	25913	POT1	OMIM:616568
HP:0001881	Abnormal leukocyte morphology	6335	SCN9A	ORPHA:90026
HP:0001881	Abnormal leukocyte morphology	11280	SCN11A	ORPHA:90026
HP:0001881	Abnormal leukocyte morphology	6336	SCN10A	ORPHA:90026
HP:0001881	Abnormal leukocyte morphology	1387	CREBBP	OMIM:180849
HP:0001881	Abnormal leukocyte morphology	2033	EP300	OMIM:180849
HP:0001881	Abnormal leukocyte morphology	9401	RECQL4	ORPHA:221016
HP:0001881	Abnormal leukocyte morphology	7012	TERC	OMIM:614743
HP:0001881	Abnormal leukocyte morphology	324	APC	ORPHA:99818
HP:0001881	Abnormal leukocyte morphology	2065	ERBB3	OMIM:133180
HP:0001881	Abnormal leukocyte morphology	5925	RB1	OMIM:180200
HP:0001881	Abnormal leukocyte morphology	4292	MLH1	OMIM:276300
HP:0001881	Abnormal leukocyte morphology	5290	PIK3CA	OMIM:602501
HP:0001881	Abnormal leukocyte morphology	2178	FANCE	OMIM:600901
HP:0001881	Abnormal leukocyte morphology	2175	FANCA	OMIM:227650
HP:0001881	Abnormal leukocyte morphology	3832	KIF11	ORPHA:2526
HP:0001881	Abnormal leukocyte morphology	8216	LZTR1	OMIM:605275
HP:0001881	Abnormal leukocyte morphology	4763	NF1	ORPHA:97685
HP:0001881	Abnormal leukocyte morphology	23476	BRD4	ORPHA:443167
HP:0001881	Abnormal leukocyte morphology	256646	NUTM1	ORPHA:443167
HP:0001881	Abnormal leukocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0001881	Abnormal leukocyte morphology	51099	ABHD5	ORPHA:98907
HP:0001881	Abnormal leukocyte morphology	6901	TAFAZZIN	OMIM:302060
HP:0001881	Abnormal leukocyte morphology	6234	RPS28	OMIM:606164
HP:0001881	Abnormal leukocyte morphology	26503	SLC17A5	OMIM:604369
HP:0001881	Abnormal leukocyte morphology	26503	SLC17A5	OMIM:269920
HP:0001881	Abnormal leukocyte morphology	57104	PNPLA2	ORPHA:565612
HP:0001881	Abnormal leukocyte morphology	4125	MAN2B1	OMIM:248500
HP:0001881	Abnormal leukocyte morphology	5538	PPT1	OMIM:256730
HP:0001881	Abnormal leukocyte morphology	2517	FUCA1	OMIM:230000
HP:0001881	Abnormal leukocyte morphology	1203	CLN5	OMIM:256731
HP:0001881	Abnormal leukocyte morphology	1201	CLN3	OMIM:204200
HP:0001881	Abnormal leukocyte morphology	1201	CLN3	ORPHA:228346
HP:0001881	Abnormal leukocyte morphology	175	AGA	OMIM:208400
HP:0001881	Abnormal leukocyte morphology	3689	ITGB2	OMIM:116920
HP:0001881	Abnormal leukocyte morphology	3155	HMGCL	ORPHA:20
HP:0001881	Abnormal leukocyte morphology	27178	IL37	OMIM:619398
HP:0001881	Abnormal leukocyte morphology	8573	CASK	OMIM:300908
HP:0001881	Abnormal leukocyte morphology	2539	G6PD	OMIM:300908
HP:0001881	Abnormal leukocyte morphology	811	CALR	ORPHA:824
HP:0001881	Abnormal leukocyte morphology	4352	MPL	ORPHA:824
HP:0001881	Abnormal leukocyte morphology	3717	JAK2	ORPHA:824
HP:0001881	Abnormal leukocyte morphology	3717	JAK2	OMIM:263300
HP:0001881	Abnormal leukocyte morphology	7518	XRCC4	ORPHA:99812
HP:0001881	Abnormal leukocyte morphology	5314	PKHD1	ORPHA:53035
HP:0001881	Abnormal leukocyte morphology	23451	SF3B1	ORPHA:75564
HP:0001881	Abnormal leukocyte morphology	8882	ZPR1	OMIM:619321
HP:0001881	Abnormal leukocyte morphology	3459	IFNGR1	OMIM:209950
HP:0001881	Abnormal leukocyte morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001881	Abnormal leukocyte morphology	9663	LPIN2	ORPHA:77297
HP:0001881	Abnormal leukocyte morphology	84196	USP48	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	7157	TP53	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	9101	USP8	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	64072	CDH23	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	2908	NR3C1	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	673	BRAF	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	546	ATRX	ORPHA:96253
HP:0001881	Abnormal leukocyte morphology	3043	HBB	OMIM:603903
HP:0001881	Abnormal leukocyte morphology	3043	HBB	ORPHA:232
HP:0001881	Abnormal leukocyte morphology	3043	HBB	ORPHA:231222
HP:0001881	Abnormal leukocyte morphology	10616	RBCK1	OMIM:615895
HP:0001881	Abnormal leukocyte morphology	6773	STAT2	OMIM:618886
HP:0001881	Abnormal leukocyte morphology	22852	ANKRD26	OMIM:188000
HP:0001881	Abnormal leukocyte morphology	114548	NLRP3	ORPHA:1451
HP:0001881	Abnormal leukocyte morphology	114548	NLRP3	OMIM:191900
HP:0001881	Abnormal leukocyte morphology	114548	NLRP3	OMIM:607115
HP:0001881	Abnormal leukocyte morphology	114548	NLRP3	OMIM:120100
HP:0001881	Abnormal leukocyte morphology	57167	SALL4	ORPHA:2307
HP:0001881	Abnormal leukocyte morphology	57167	SALL4	OMIM:147750
HP:0001881	Abnormal leukocyte morphology	11330	CTRC	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	5644	PRSS1	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	5645	PRSS2	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	6690	SPINK1	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	846	CASR	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	1080	CFTR	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	1357	CPA1	ORPHA:676
HP:0001881	Abnormal leukocyte morphology	10367	MICU1	OMIM:615673
HP:0001881	Abnormal leukocyte morphology	83706	FERMT3	OMIM:612840
HP:0001881	Abnormal leukocyte morphology	374354	NHLRC2	OMIM:618278
HP:0001881	Abnormal leukocyte morphology	144811	LACC1	OMIM:618795
HP:0001881	Abnormal leukocyte morphology	51816	ADA2	OMIM:615688
HP:0001881	Abnormal leukocyte morphology	91662	NLRP12	OMIM:611762
HP:0001881	Abnormal leukocyte morphology	10551	AGR2	OMIM:620233
HP:0001881	Abnormal leukocyte morphology	38	ACAT1	ORPHA:134
HP:0001881	Abnormal leukocyte morphology	5966	REL	OMIM:619652
HP:0001881	Abnormal leukocyte morphology	4938	OAS1	OMIM:618042
HP:0001881	Abnormal leukocyte morphology	3458	IFNG	OMIM:618963
HP:0001881	Abnormal leukocyte morphology	9939	RBM8A	OMIM:274000
HP:0001881	Abnormal leukocyte morphology	28962	OSTM1	OMIM:259720
HP:0001881	Abnormal leukocyte morphology	613	BCR	ORPHA:521
HP:0001881	Abnormal leukocyte morphology	25	ABL1	ORPHA:521
HP:0001881	Abnormal leukocyte morphology	6774	STAT3	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	5371	PML	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	5914	RARA	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	81608	FIP1L1	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	4869	NPM1	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	54880	BCOR	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	64859	NABP1	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	6777	STAT5B	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	4926	NUMA1	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	7704	ZBTB16	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0001881	Abnormal leukocyte morphology	7040	TGFB1	OMIM:618213
HP:0001881	Abnormal leukocyte morphology	8517	IKBKG	OMIM:308300
HP:0001881	Abnormal leukocyte morphology	6609	SMPD1	OMIM:607616
HP:0001881	Abnormal leukocyte morphology	6609	SMPD1	OMIM:257200
HP:0001881	Abnormal leukocyte morphology	10577	NPC2	OMIM:607625
HP:0001881	Abnormal leukocyte morphology	2720	GLB1	OMIM:230600
HP:0001881	Abnormal leukocyte morphology	348	APOE	ORPHA:158029
HP:0001881	Abnormal leukocyte morphology	348	APOE	OMIM:269600
HP:0001881	Abnormal leukocyte morphology	4864	NPC1	OMIM:257220
HP:0001881	Abnormal leukocyte morphology	5566	PRKACA	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	5567	PRKACB	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	2735	GLI1	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	2121	EVC	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	51626	DYNC2LI1	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	132884	EVC2	ORPHA:289
HP:0001881	Abnormal leukocyte morphology	10019	SH2B3	ORPHA:3318
HP:0001881	Abnormal leukocyte morphology	412	STS	ORPHA:281090
HP:0001881	Abnormal leukocyte morphology	7305	TYROBP	ORPHA:2770
HP:0001881	Abnormal leukocyte morphology	54209	TREM2	ORPHA:2770
HP:0001881	Abnormal leukocyte morphology	4683	NBN	ORPHA:647
HP:0001881	Abnormal leukocyte morphology	9487	PIGL	ORPHA:3474
HP:0001881	Abnormal leukocyte morphology	29760	BLNK	OMIM:613502
HP:0001881	Abnormal leukocyte morphology	26191	PTPN22	ORPHA:900
HP:0001881	Abnormal leukocyte morphology	5657	PRTN3	ORPHA:900
HP:0001881	Abnormal leukocyte morphology	3113	HLA-DPA1	ORPHA:900
HP:0001881	Abnormal leukocyte morphology	4688	NCF2	OMIM:233710
HP:0001881	Abnormal leukocyte morphology	79415	CYBC1	OMIM:618935
HP:0001881	Abnormal leukocyte morphology	1536	CYBB	OMIM:306400
HP:0001881	Abnormal leukocyte morphology	653361	NCF1	OMIM:233700
HP:0001881	Abnormal leukocyte morphology	84888	SPPL2A	OMIM:619549
HP:0001881	Abnormal leukocyte morphology	1535	CYBA	OMIM:233690
HP:0001881	Abnormal leukocyte morphology	4247	MGAT2	ORPHA:79329
HP:0001881	Abnormal leukocyte morphology	6772	STAT1	OMIM:614162
HP:0001881	Abnormal leukocyte morphology	3718	JAK3	OMIM:600802
HP:0001881	Abnormal leukocyte morphology	3718	JAK3	ORPHA:35078
HP:0001881	Abnormal leukocyte morphology	57217	TTC7A	OMIM:243150
HP:0001881	Abnormal leukocyte morphology	55388	MCM10	OMIM:619313
HP:0001881	Abnormal leukocyte morphology	4615	MYD88	OMIM:153600
HP:0001881	Abnormal leukocyte morphology	5788	PTPRC	OMIM:619924
HP:0001881	Abnormal leukocyte morphology	6023	RMRP	OMIM:250250
HP:0001881	Abnormal leukocyte morphology	7535	ZAP70	OMIM:617006
HP:0001881	Abnormal leukocyte morphology	64919	BCL11B	OMIM:617237
HP:0001881	Abnormal leukocyte morphology	200942	KLHDC8B	OMIM:236000
HP:0001881	Abnormal leukocyte morphology	6445	SGCG	ORPHA:353
HP:0001881	Abnormal leukocyte morphology	219285	SAMD9L	ORPHA:2585
HP:0001881	Abnormal leukocyte morphology	23495	TNFRSF13B	OMIM:609529
HP:0001881	Abnormal leukocyte morphology	1493	CTLA4	ORPHA:3162
HP:0001881	Abnormal leukocyte morphology	1493	CTLA4	ORPHA:2584
HP:0001881	Abnormal leukocyte morphology	940	CD28	ORPHA:3162
HP:0001881	Abnormal leukocyte morphology	940	CD28	ORPHA:2584
HP:0001881	Abnormal leukocyte morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001881	Abnormal leukocyte morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001881	Abnormal leukocyte morphology	23765	IL17RA	OMIM:613953
HP:0001881	Abnormal leukocyte morphology	4791	NFKB2	ORPHA:293978
HP:0001881	Abnormal leukocyte morphology	55636	CHD7	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	3981	LIG4	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	5896	RAG1	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	5897	RAG2	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	100	ADA	ORPHA:39041
HP:0001881	Abnormal leukocyte morphology	3988	LIPA	OMIM:278000
HP:0001881	Abnormal leukocyte morphology	3988	LIPA	ORPHA:75233
HP:0001881	Abnormal leukocyte morphology	4758	NEU1	OMIM:256550
HP:0001881	Abnormal leukocyte morphology	128	ADH5	OMIM:619151
HP:0001881	Abnormal leukocyte morphology	26511	CHIC2	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	1050	CEBPA	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	6455	SH3GL1	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	8028	MLLT10	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	8301	PICALM	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	4026	LPP	OMIM:601626
HP:0001881	Abnormal leukocyte morphology	8930	MBD4	OMIM:619975
HP:0001881	Abnormal leukocyte morphology	1736	DKC1	OMIM:305000
HP:0001881	Abnormal leukocyte morphology	6135	RPL11	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6138	RPL15	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6229	RPS24	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6125	RPL5	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6204	RPS10	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6224	RPS20	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6165	RPL35A	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6223	RPS19	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6232	RPS27	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6231	RPS26	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	11224	RPL35	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6160	RPL31	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6218	RPS17	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6201	RPS7	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6155	RPL27	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6154	RPL26	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6210	RPS15A	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	90121	TSR2	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6141	RPL18	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	6235	RPS29	ORPHA:124
HP:0001881	Abnormal leukocyte morphology	29089	UBE2T	OMIM:616435
HP:0001881	Abnormal leukocyte morphology	2120	ETV6	OMIM:616216
HP:0001881	Abnormal leukocyte morphology	3417	IDH1	ORPHA:99646
HP:0001881	Abnormal leukocyte morphology	10841	FTCD	OMIM:229100
HP:0001881	Abnormal leukocyte morphology	119559	SFXN4	OMIM:615578
HP:0001881	Abnormal leukocyte morphology	8029	CUBN	ORPHA:35858
HP:0001881	Abnormal leukocyte morphology	81693	AMN	ORPHA:35858
HP:0001881	Abnormal leukocyte morphology	6573	SLC19A1	OMIM:601775
HP:0001881	Abnormal leukocyte morphology	4522	MTHFD1	OMIM:617780
HP:0001881	Abnormal leukocyte morphology	161742	SPRED1	ORPHA:137605
HP:0001881	Abnormal leukocyte morphology	5557	PRIM1	OMIM:620005
HP:0001881	Abnormal leukocyte morphology	1789	DNMT3B	OMIM:242860
HP:0001881	Abnormal leukocyte morphology	695	BTK	OMIM:300755
HP:0001881	Abnormal leukocyte morphology	6909	TBX2	OMIM:618223
HP:0001881	Abnormal leukocyte morphology	8456	FOXN1	OMIM:601705
HP:0001881	Abnormal leukocyte morphology	8456	FOXN1	OMIM:618806
HP:0001881	Abnormal leukocyte morphology	8456	FOXN1	ORPHA:169095
HP:0001881	Abnormal leukocyte morphology	3574	IL7	OMIM:618309
HP:0001881	Abnormal leukocyte morphology	8737	RIPK1	OMIM:618108
HP:0001881	Abnormal leukocyte morphology	23149	FCHO1	OMIM:619164
HP:0001881	Abnormal leukocyte morphology	79840	NHEJ1	ORPHA:169079
HP:0001881	Abnormal leukocyte morphology	54	ACP5	OMIM:607944
HP:0001881	Abnormal leukocyte morphology	919	CD247	OMIM:610163
HP:0001881	Abnormal leukocyte morphology	3431	SP110	ORPHA:79124
HP:0001881	Abnormal leukocyte morphology	1794	DOCK2	OMIM:616433
HP:0001881	Abnormal leukocyte morphology	3071	NCKAP1L	OMIM:618982
HP:0001881	Abnormal leukocyte morphology	84433	CARD11	OMIM:616452
HP:0001881	Abnormal leukocyte morphology	2137	EXTL3	ORPHA:508533
HP:0001881	Abnormal leukocyte morphology	3561	IL2RG	ORPHA:276
HP:0001881	Abnormal leukocyte morphology	3561	IL2RG	OMIM:312863
HP:0001881	Abnormal leukocyte morphology	57724	EPG5	OMIM:242840
HP:0001881	Abnormal leukocyte morphology	7454	WAS	OMIM:301000
HP:0001881	Abnormal leukocyte morphology	84061	MAGT1	OMIM:300853
HP:0001881	Abnormal leukocyte morphology	10043	TOM1	OMIM:619510
HP:0001881	Abnormal leukocyte morphology	3702	ITK	OMIM:613011
HP:0001881	Abnormal leukocyte morphology	10625	IVNS1ABP	OMIM:618969
HP:0001881	Abnormal leukocyte morphology	3551	IKBKB	OMIM:618204
HP:0001881	Abnormal leukocyte morphology	3932	LCK	OMIM:615758
HP:0001881	Abnormal leukocyte morphology	54440	SASH3	OMIM:301082
HP:0001881	Abnormal leukocyte morphology	9094	UNC119	OMIM:615518
HP:0001881	Abnormal leukocyte morphology	90417	KNSTRN	ORPHA:221139
HP:0001881	Abnormal leukocyte morphology	4609	MYC	ORPHA:543
HP:0001881	Abnormal leukocyte morphology	3575	IL7R	ORPHA:169154
HP:0001881	Abnormal leukocyte morphology	81704	DOCK8	OMIM:243700
HP:0001881	Abnormal leukocyte morphology	56160	NSMCE3	OMIM:617241
HP:0001881	Abnormal leukocyte morphology	472	ATM	OMIM:208900
HP:0001881	Abnormal leukocyte morphology	3953	LEPR	ORPHA:179494
HP:0001881	Abnormal leukocyte morphology	3952	LEP	ORPHA:66628
HP:0001881	Abnormal leukocyte morphology	7456	WIPF1	OMIM:614493
HP:0001881	Abnormal leukocyte morphology	917	CD3G	OMIM:615607
HP:0001881	Abnormal leukocyte morphology	925	CD8A	OMIM:608957
HP:0001881	Abnormal leukocyte morphology	7066	THPO	ORPHA:71493
HP:0001881	Abnormal leukocyte morphology	1991	ELANE	OMIM:202700
HP:0001881	Abnormal leukocyte morphology	204	AK2	OMIM:267500
HP:0001881	Abnormal leukocyte morphology	210	ALAD	ORPHA:100924
HP:0001881	Abnormal leukocyte morphology	5159	PDGFRB	OMIM:131440
HP:0001881	Abnormal leukocyte morphology	5156	PDGFRA	OMIM:607685
HP:0001881	Abnormal leukocyte morphology	10535	RNASEH2A	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	84153	RNASEH2C	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	25939	SAMHD1	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	103	ADAR	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	11277	TREX1	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	100147744	RNU7-1	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	134353	LSM11	ORPHA:51
HP:0001881	Abnormal leukocyte morphology	10312	TCIRG1	ORPHA:486
HP:0001881	Abnormal leukocyte morphology	2672	GFI1	ORPHA:486
HP:0001881	Abnormal leukocyte morphology	54888	NSUN2	ORPHA:235
HP:0001881	Abnormal leukocyte morphology	9184	BUB3	ORPHA:1052
HP:0001881	Abnormal leukocyte morphology	699	BUB1	ORPHA:1052
HP:0001881	Abnormal leukocyte morphology	9702	CEP57	ORPHA:1052
HP:0001881	Abnormal leukocyte morphology	9319	TRIP13	ORPHA:1052
HP:0001881	Abnormal leukocyte morphology	701	BUB1B	ORPHA:1052
HP:0001881	Abnormal leukocyte morphology	581	BAX	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	2322	FLT3	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	2782	GNB1	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	8021	NUP214	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	6886	TAL1	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	6887	TAL2	OMIM:613065
HP:0001881	Abnormal leukocyte morphology	10320	IKZF1	OMIM:616873
HP:0001881	Abnormal leukocyte morphology	10456	HAX1	OMIM:610738
HP:0001881	Abnormal leukocyte morphology	64324	NSD1	ORPHA:821
HP:0001881	Abnormal leukocyte morphology	29072	SETD2	ORPHA:821
HP:0001881	Abnormal leukocyte morphology	10297	APC2	ORPHA:821
HP:0001881	Abnormal leukocyte morphology	1029	CDKN2A	ORPHA:524
HP:0001881	Abnormal leukocyte morphology	4193	MDM2	ORPHA:524
HP:0001881	Abnormal leukocyte morphology	11200	CHEK2	ORPHA:524
HP:0001881	Abnormal leukocyte morphology	675	BRCA2	OMIM:605724
HP:0001881	Abnormal leukocyte morphology	675	BRCA2	OMIM:613029
HP:0001881	Abnormal leukocyte morphology	4436	MSH2	OMIM:619096
HP:0001881	Abnormal leukocyte morphology	1854	DUT	OMIM:620044
HP:0001881	Abnormal leukocyte morphology	2623	GATA1	OMIM:190685
HP:0001881	Abnormal leukocyte morphology	51095	TRNT1	OMIM:616084
HP:0001881	Abnormal leukocyte morphology	9841	ZBTB24	OMIM:614069
HP:0001881	Abnormal leukocyte morphology	22806	IKZF3	OMIM:619437
HP:0001881	Abnormal leukocyte morphology	3507	IGHM	OMIM:601495
HP:0001881	Abnormal leukocyte morphology	114803	MYSM1	ORPHA:508542
HP:0001881	Abnormal leukocyte morphology	974	CD79B	OMIM:612692
HP:0001881	Abnormal leukocyte morphology	23250	ATP11A	OMIM:619851
HP:0001881	Abnormal leukocyte morphology	79087	ALG12	ORPHA:79324
HP:0001881	Abnormal leukocyte morphology	96459	FNIP1	OMIM:619705
HP:0001881	Abnormal leukocyte morphology	9138	ARHGEF1	OMIM:618459
HP:0001881	Abnormal leukocyte morphology	51594	NBAS	OMIM:614800
HP:0001881	Abnormal leukocyte morphology	10430	TMEM147	OMIM:620075
HP:0001881	Abnormal leukocyte morphology	975	CD81	OMIM:613496
HP:0001881	Abnormal leukocyte morphology	59067	IL21	OMIM:615767
HP:0001881	Abnormal leukocyte morphology	115650	TNFRSF13C	OMIM:240500
HP:0001881	Abnormal leukocyte morphology	115650	TNFRSF13C	OMIM:613494
HP:0001881	Abnormal leukocyte morphology	1380	CR2	OMIM:240500
HP:0001881	Abnormal leukocyte morphology	29851	ICOS	OMIM:240500
HP:0001881	Abnormal leukocyte morphology	29851	ICOS	OMIM:607594
HP:0001881	Abnormal leukocyte morphology	930	CD19	OMIM:240500
HP:0001881	Abnormal leukocyte morphology	930	CD19	OMIM:613493
HP:0001881	Abnormal leukocyte morphology	931	MS4A1	OMIM:613495
HP:0001881	Abnormal leukocyte morphology	2038	EPB42	OMIM:612690
HP:0001881	Abnormal leukocyte morphology	90268	OTULIN	OMIM:617099
HP:0001881	Abnormal leukocyte morphology	3394	IRF8	OMIM:226990
HP:0001881	Abnormal leukocyte morphology	4598	MVK	OMIM:260920
HP:0001881	Abnormal leukocyte morphology	26525	IL36RN	OMIM:614204
HP:0001881	Abnormal leukocyte morphology	4210	MEFV	ORPHA:3243
HP:0001881	Abnormal leukocyte morphology	4210	MEFV	OMIM:249100
HP:0001881	Abnormal leukocyte morphology	1441	CSF3R	OMIM:162830
HP:0001881	Abnormal leukocyte morphology	55343	SLC35C1	OMIM:266265
HP:0001881	Abnormal leukocyte morphology	55343	SLC35C1	ORPHA:99843
HP:0001881	Abnormal leukocyte morphology	5293	PIK3CD	OMIM:619281
HP:0001881	Abnormal leukocyte morphology	57169	ZNFX1	OMIM:619644
HP:0001881	Abnormal leukocyte morphology	5971	RELB	OMIM:617585
HP:0001881	Abnormal leukocyte morphology	3557	IL1RN	OMIM:612852
HP:0001881	Abnormal leukocyte morphology	5880	RAC2	OMIM:608203
HP:0001881	Abnormal leukocyte morphology	7187	TRAF3	ORPHA:1930
HP:0001881	Abnormal leukocyte morphology	81622	UNC93B1	ORPHA:1930
HP:0001881	Abnormal leukocyte morphology	148022	TICAM1	ORPHA:1930
HP:0001881	Abnormal leukocyte morphology	7098	TLR3	ORPHA:1930
HP:0001881	Abnormal leukocyte morphology	29110	TBK1	ORPHA:1930
HP:0001881	Abnormal leukocyte morphology	7852	CXCR4	ORPHA:51636
HP:0001881	Abnormal leukocyte morphology	6208	RPS14	ORPHA:86841
HP:0001881	Abnormal leukocyte morphology	1053	CEBPE	OMIM:245480
HP:0001881	Abnormal leukocyte morphology	2821	GPI	OMIM:613470
HP:0001881	Abnormal leukocyte morphology	9056	SLC7A7	ORPHA:470
HP:0001881	Abnormal leukocyte morphology	9056	SLC7A7	OMIM:222700
HP:0001881	Abnormal leukocyte morphology	201294	UNC13D	OMIM:608898
HP:0001881	Abnormal leukocyte morphology	201294	UNC13D	ORPHA:540
HP:0001881	Abnormal leukocyte morphology	5873	RAB27A	OMIM:607624
HP:0001881	Abnormal leukocyte morphology	5873	RAB27A	ORPHA:79477
HP:0001881	Abnormal leukocyte morphology	84868	HAVCR2	ORPHA:86884
HP:0001881	Abnormal leukocyte morphology	84868	HAVCR2	OMIM:618398
HP:0001881	Abnormal leukocyte morphology	1777	DNASE2	OMIM:619858
HP:0001881	Abnormal leukocyte morphology	51311	TLR8	OMIM:301078
HP:0001881	Abnormal leukocyte morphology	5551	PRF1	ORPHA:540
HP:0001881	Abnormal leukocyte morphology	5551	PRF1	OMIM:603553
HP:0001881	Abnormal leukocyte morphology	8676	STX11	ORPHA:540
HP:0001881	Abnormal leukocyte morphology	8676	STX11	OMIM:603552
HP:0001881	Abnormal leukocyte morphology	6813	STXBP2	ORPHA:540
HP:0001881	Abnormal leukocyte morphology	6813	STXBP2	OMIM:613101
HP:0001881	Abnormal leukocyte morphology	939	CD27	OMIM:615122
HP:0001881	Abnormal leukocyte morphology	5591	PRKDC	OMIM:615966
HP:0001881	Abnormal leukocyte morphology	916	CD3E	OMIM:615615
HP:0001881	Abnormal leukocyte morphology	915	CD3D	OMIM:615617
HP:0001881	Abnormal leukocyte morphology	23092	ARHGAP26	OMIM:607785
HP:0001881	Abnormal leukocyte morphology	5781	PTPN11	OMIM:607785
HP:0001881	Abnormal leukocyte morphology	5781	PTPN11	OMIM:163950
HP:0001881	Abnormal leukocyte morphology	5604	MAP2K1	OMIM:163950
HP:0001881	Abnormal leukocyte morphology	92579	G6PC3	OMIM:612541
HP:0001881	Abnormal leukocyte morphology	51428	DDX41	OMIM:616871
HP:0001881	Abnormal leukocyte morphology	2165	F13B	ORPHA:331
HP:0001881	Abnormal leukocyte morphology	2162	F13A1	ORPHA:331
HP:0001881	Abnormal leukocyte morphology	7015	TERT	OMIM:614742
HP:0001881	Abnormal leukocyte morphology	1788	DNMT3A	ORPHA:404443
HP:0001881	Abnormal leukocyte morphology	26040	SETBP1	ORPHA:798
HP:0001881	Abnormal leukocyte morphology	6603	SMARCD2	OMIM:617475
HP:0001881	Abnormal leukocyte morphology	56259	CTNNBL1	OMIM:619846
HP:0001881	Abnormal leukocyte morphology	5294	PIK3CG	OMIM:619802
HP:0001881	Abnormal leukocyte morphology	973	CD79A	OMIM:613501
HP:0001881	Abnormal leukocyte morphology	3543	IGLL1	OMIM:613500
HP:0001881	Abnormal leukocyte morphology	7922	SLC39A7	OMIM:619693
HP:0001881	Abnormal leukocyte morphology	60468	BACH2	OMIM:618394
HP:0001881	Abnormal leukocyte morphology	8651	SOCS1	OMIM:619375
HP:0001881	Abnormal leukocyte morphology	10525	HYOU1	OMIM:233600
HP:0001881	Abnormal leukocyte morphology	5336	PLCG2	OMIM:614878
HP:0001881	Abnormal leukocyte morphology	3570	IL6R	OMIM:618944
HP:0001881	Abnormal leukocyte morphology	3115	HLA-DPB1	ORPHA:133
HP:0001881	Abnormal leukocyte morphology	64170	CARD9	OMIM:212050
HP:0001881	Abnormal leukocyte morphology	355	FAS	ORPHA:3261
HP:0001881	Abnormal leukocyte morphology	356	FASLG	ORPHA:3261
HP:0001881	Abnormal leukocyte morphology	843	CASP10	ORPHA:3261
HP:0001881	Abnormal leukocyte morphology	641	BLM	ORPHA:125
HP:0001881	Abnormal leukocyte morphology	5238	PGM3	ORPHA:443811
HP:0001881	Abnormal leukocyte morphology	5994	RFXAP	ORPHA:572
HP:0001881	Abnormal leukocyte morphology	4261	CIITA	ORPHA:572
HP:0001881	Abnormal leukocyte morphology	5993	RFX5	ORPHA:572
HP:0001881	Abnormal leukocyte morphology	8625	RFXANK	ORPHA:572
HP:0001881	Abnormal leukocyte morphology	9948	WDR1	OMIM:150550
HP:0001881	Abnormal leukocyte morphology	6850	SYK	OMIM:619381
HP:0001881	Abnormal leukocyte morphology	50943	FOXP3	ORPHA:37042
HP:0001881	Abnormal leukocyte morphology	399	RHOH	OMIM:618307
HP:0001881	Abnormal leukocyte morphology	6117	RPA1	OMIM:619767
HP:0001881	Abnormal leukocyte morphology	79991	STN1	OMIM:617341
HP:0001881	Abnormal leukocyte morphology	29775	CARD10	OMIM:619632
HP:0001881	Abnormal leukocyte morphology	11005	SPINK5	OMIM:256500
HP:0001881	Abnormal leukocyte morphology	10526	IPO8	OMIM:619472
HP:0001881	Abnormal leukocyte morphology	28755	TRAC	OMIM:615387
HP:0001881	Abnormal leukocyte morphology	22861	NLRP1	OMIM:617388
HP:0001881	Abnormal leukocyte morphology	10159	ATP6AP2	OMIM:301045
HP:0001881	Abnormal leukocyte morphology	920	CD4	OMIM:619238
HP:0001881	Abnormal leukocyte morphology	1130	LYST	OMIM:214500
HP:0001881	Abnormal leukocyte morphology	5580	PRKCD	OMIM:615559
HP:0001881	Abnormal leukocyte morphology	10125	RASGRP1	OMIM:618534
HP:0001881	Abnormal leukocyte morphology	51371	POMP	OMIM:618048
HP:0001881	Abnormal leukocyte morphology	2624	GATA2	OMIM:614038
HP:0001881	Abnormal leukocyte morphology	1503	CTPS1	OMIM:615897
HP:0001881	Abnormal leukocyte morphology	841	CASP8	OMIM:607271
HP:0001881	Abnormal leukocyte morphology	3559	IL2RA	OMIM:606367
HP:0001881	Abnormal leukocyte morphology	8546	AP3B1	OMIM:608233
HP:0001881	Abnormal leukocyte morphology	50619	DEF6	OMIM:619573
HP:0001881	Abnormal leukocyte morphology	3560	IL2RB	OMIM:618495
HP:0001881	Abnormal leukocyte morphology	8288	EPX	OMIM:261500
HP:0001881	Abnormal leukocyte morphology	84876	ORAI1	OMIM:612782
HP:0001881	Abnormal leukocyte morphology	10892	MALT1	OMIM:615468
HP:0001881	Abnormal leukocyte morphology	6786	STIM1	OMIM:612783
HP:0001881	Abnormal leukocyte morphology	427	ASAH1	OMIM:228000
HP:0001881	Abnormal leukocyte morphology	970	CD70	OMIM:618261
HP:0001881	Abnormal leukocyte morphology	3572	IL6ST	OMIM:619752
HP:0001881	Abnormal leukocyte morphology	4173	MCM4	OMIM:609981
HP:0001881	Abnormal leukocyte morphology	58484	NLRC4	OMIM:616050
HP:0001881	Abnormal leukocyte morphology	567	B2M	OMIM:241600
HP:0001881	Abnormal leukocyte morphology	2214	FCGR3A	OMIM:615707
HP:0001881	Abnormal leukocyte morphology	64858	DCLRE1B	OMIM:620133
HP:0001881	Abnormal leukocyte morphology	9837	GINS1	OMIM:617827
HP:0001881	Abnormal leukocyte morphology	4627	MYH9	OMIM:155100
HP:0001881	Abnormal leukocyte morphology	5373	PMM2	ORPHA:79318
HP:0001881	Abnormal leukocyte morphology	3937	LCP2	OMIM:619374
HP:0001881	Abnormal leukocyte morphology	340665	CYP26C1	ORPHA:398189
HP:0001881	Abnormal leukocyte morphology	171023	ASXL1	ORPHA:98850
HP:0001881	Abnormal leukocyte morphology	171023	ASXL1	ORPHA:98849
HP:0001881	Abnormal leukocyte morphology	54790	TET2	ORPHA:98850
HP:0001881	Abnormal leukocyte morphology	54790	TET2	ORPHA:98849
HP:0001881	Abnormal leukocyte morphology	867	CBL	ORPHA:98850
HP:0001881	Abnormal leukocyte morphology	861	RUNX1	ORPHA:98850
HP:0001881	Abnormal leukocyte morphology	6427	SRSF2	ORPHA:98850
HP:0001881	Abnormal leukocyte morphology	6427	SRSF2	ORPHA:98849
HP:0001881	Abnormal leukocyte morphology	3815	KIT	ORPHA:98849
HP:0001881	Abnormal leukocyte morphology	55315	SLC29A3	OMIM:602782
HP:0001881	Abnormal leukocyte morphology	55315	SLC29A3	ORPHA:168569
HP:0001881	Abnormal leukocyte morphology	2859	GPR35	ORPHA:171
HP:0001881	Abnormal leukocyte morphology	10507	SEMA4D	ORPHA:171
HP:0001881	Abnormal leukocyte morphology	4485	MST1	ORPHA:171
HP:0001881	Abnormal leukocyte morphology	6925	TCF4	ORPHA:171
HP:0001881	Abnormal leukocyte morphology	2000	ELF4	OMIM:301074
HP:0001881	Abnormal leukocyte morphology	3845	KRAS	OMIM:614470
HP:0001881	Abnormal leukocyte morphology	4893	NRAS	OMIM:614470
HP:0001881	Abnormal leukocyte morphology	79621	RNASEH2B	OMIM:610181
HP:0001881	Abnormal leukocyte morphology	54914	FOCAD	OMIM:619991
HP:0001881	Abnormal leukocyte morphology	84823	LMNB2	ORPHA:79087
HP:0001881	Abnormal leukocyte morphology	10095	ARPC1B	OMIM:617718
HP:0001881	Abnormal leukocyte morphology	331	XIAP	OMIM:308240
HP:0001881	Abnormal leukocyte morphology	4068	SH2D1A	OMIM:308240
HP:0001881	Abnormal leukocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0001881	Abnormal leukocyte morphology	56244	BTNL2	ORPHA:797
HP:0001881	Abnormal leukocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0001881	Abnormal leukocyte morphology	3579	CXCR2	OMIM:619407
HP:0001881	Abnormal leukocyte morphology	987	LRBA	OMIM:614700
HP:0001881	Abnormal leukocyte morphology	51645	PPIL1	OMIM:619301
HP:0001881	Abnormal leukocyte morphology	51362	CDC40	OMIM:619302
HP:0001881	Abnormal leukocyte morphology	2542	SLC37A4	ORPHA:79259
HP:0001881	Abnormal leukocyte morphology	9158	FIBP	OMIM:617107
HP:0001881	Abnormal leukocyte morphology	9158	FIBP	ORPHA:500095
HP:0001881	Abnormal leukocyte morphology	6688	SPI1	OMIM:619707
HP:0001881	Abnormal leukocyte morphology	51135	IRAK4	OMIM:607676
HP:0001881	Abnormal leukocyte morphology	134218	DNAJC21	ORPHA:811
HP:0001881	Abnormal leukocyte morphology	79631	EFL1	ORPHA:811
HP:0001881	Abnormal leukocyte morphology	51119	SBDS	ORPHA:811
HP:0001881	Abnormal leukocyte morphology	6729	SRP54	ORPHA:811
HP:0001881	Abnormal leukocyte morphology	81570	CLPB	ORPHA:445038
HP:0001881	Abnormal leukocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0001881	Abnormal leukocyte morphology	5295	PIK3R1	OMIM:616005
HP:0001881	Abnormal leukocyte morphology	8915	BCL10	OMIM:616098
HP:0001881	Abnormal leukocyte morphology	6929	TCF3	OMIM:619824
HP:0001881	Abnormal leukocyte morphology	27040	LAT	OMIM:617514
HP:0001881	Abnormal leukocyte morphology	3978	LIG1	OMIM:619774
HP:0001882	Leukopenia	128	ADH5	OMIM:619151
HP:0001882	Leukopenia	3155	HMGCL	ORPHA:20
HP:0001882	Leukopenia	9056	SLC7A7	ORPHA:470
HP:0001882	Leukopenia	9056	SLC7A7	OMIM:222700
HP:0001882	Leukopenia	51750	RTEL1	OMIM:615190
HP:0001882	Leukopenia	54809	SAMD9	OMIM:617053
HP:0001882	Leukopenia	3702	ITK	OMIM:613011
HP:0001882	Leukopenia	54914	FOCAD	OMIM:619991
HP:0001882	Leukopenia	5238	PGM3	ORPHA:443811
HP:0001882	Leukopenia	5880	RAC2	OMIM:618986
HP:0001882	Leukopenia	54440	SASH3	OMIM:301082
HP:0001882	Leukopenia	6775	STAT4	ORPHA:93552
HP:0001882	Leukopenia	6696	SPP1	ORPHA:93552
HP:0001882	Leukopenia	3654	IRAK1	ORPHA:93552
HP:0001882	Leukopenia	1736	DKC1	OMIM:305000
HP:0001882	Leukopenia	6916	TBXAS1	OMIM:231095
HP:0001882	Leukopenia	375748	ERCC6L2	OMIM:615715
HP:0001882	Leukopenia	6165	RPL35A	OMIM:612528
HP:0001882	Leukopenia	6165	RPL35A	ORPHA:124
HP:0001882	Leukopenia	7040	TGFB1	ORPHA:1328
HP:0001882	Leukopenia	55719	SLF2	OMIM:620184
HP:0001882	Leukopenia	79650	USB1	OMIM:604173
HP:0001882	Leukopenia	51284	TLR7	OMIM:301080
HP:0001882	Leukopenia	55593	OTUD5	OMIM:301056
HP:0001882	Leukopenia	5551	PRF1	OMIM:603553
HP:0001882	Leukopenia	114803	MYSM1	ORPHA:508542
HP:0001882	Leukopenia	114803	MYSM1	OMIM:618116
HP:0001882	Leukopenia	374879	ZNF699	OMIM:619488
HP:0001882	Leukopenia	11311	VPS45	OMIM:615285
HP:0001882	Leukopenia	51816	ADA2	OMIM:615688
HP:0001882	Leukopenia	51816	ADA2	ORPHA:124
HP:0001882	Leukopenia	65082	VPS33A	OMIM:617303
HP:0001882	Leukopenia	65082	VPS33A	ORPHA:505248
HP:0001882	Leukopenia	1130	LYST	OMIM:214500
HP:0001882	Leukopenia	26277	TINF2	OMIM:127550
HP:0001882	Leukopenia	26277	TINF2	OMIM:613990
HP:0001882	Leukopenia	7012	TERC	OMIM:127550
HP:0001882	Leukopenia	7015	TERT	OMIM:127550
HP:0001882	Leukopenia	7015	TERT	OMIM:613989
HP:0001882	Leukopenia	3516	RBPJ	ORPHA:974
HP:0001882	Leukopenia	4851	NOTCH1	ORPHA:974
HP:0001882	Leukopenia	57514	ARHGAP31	ORPHA:974
HP:0001882	Leukopenia	57572	DOCK6	ORPHA:974
HP:0001882	Leukopenia	285203	EOGT	ORPHA:974
HP:0001882	Leukopenia	54567	DLL4	ORPHA:974
HP:0001882	Leukopenia	134218	DNAJC21	ORPHA:811
HP:0001882	Leukopenia	79631	EFL1	ORPHA:811
HP:0001882	Leukopenia	51119	SBDS	ORPHA:811
HP:0001882	Leukopenia	6729	SRP54	ORPHA:811
HP:0001882	Leukopenia	2188	FANCF	OMIM:603467
HP:0001882	Leukopenia	2188	FANCF	ORPHA:84
HP:0001882	Leukopenia	57724	EPG5	OMIM:242840
HP:0001882	Leukopenia	537	ATP6AP1	OMIM:300972
HP:0001882	Leukopenia	204	AK2	OMIM:267500
HP:0001882	Leukopenia	204	AK2	ORPHA:33355
HP:0001882	Leukopenia	6208	RPS14	ORPHA:86841
HP:0001882	Leukopenia	3988	LIPA	OMIM:278000
HP:0001882	Leukopenia	92579	G6PC3	OMIM:612541
HP:0001882	Leukopenia	340061	STING1	OMIM:615934
HP:0001882	Leukopenia	672	BRCA1	ORPHA:84
HP:0001882	Leukopenia	10459	MAD2L2	ORPHA:84
HP:0001882	Leukopenia	7516	XRCC2	ORPHA:84
HP:0001882	Leukopenia	29089	UBE2T	ORPHA:84
HP:0001882	Leukopenia	675	BRCA2	ORPHA:84
HP:0001882	Leukopenia	55120	FANCL	ORPHA:84
HP:0001882	Leukopenia	2177	FANCD2	ORPHA:84
HP:0001882	Leukopenia	2175	FANCA	ORPHA:84
HP:0001882	Leukopenia	2187	FANCB	ORPHA:84
HP:0001882	Leukopenia	2176	FANCC	ORPHA:84
HP:0001882	Leukopenia	2178	FANCE	ORPHA:84
HP:0001882	Leukopenia	2189	FANCG	ORPHA:84
HP:0001882	Leukopenia	5888	RAD51	ORPHA:84
HP:0001882	Leukopenia	5889	RAD51C	ORPHA:84
HP:0001882	Leukopenia	55159	RFWD3	ORPHA:84
HP:0001882	Leukopenia	83990	BRIP1	ORPHA:84
HP:0001882	Leukopenia	57697	FANCM	ORPHA:84
HP:0001882	Leukopenia	79728	PALB2	ORPHA:84
HP:0001882	Leukopenia	84464	SLX4	ORPHA:84
HP:0001882	Leukopenia	2072	ERCC4	ORPHA:84
HP:0001882	Leukopenia	55215	FANCI	ORPHA:84
HP:0001882	Leukopenia	4594	MMUT	OMIM:251000
HP:0001882	Leukopenia	23479	ISCU	OMIM:255125
HP:0001882	Leukopenia	157680	VPS13B	OMIM:216550
HP:0001882	Leukopenia	5277	PIGA	ORPHA:447
HP:0001882	Leukopenia	3712	IVD	OMIM:243500
HP:0001882	Leukopenia	6135	RPL11	ORPHA:124
HP:0001882	Leukopenia	6138	RPL15	ORPHA:124
HP:0001882	Leukopenia	6229	RPS24	ORPHA:124
HP:0001882	Leukopenia	6125	RPL5	ORPHA:124
HP:0001882	Leukopenia	6204	RPS10	ORPHA:124
HP:0001882	Leukopenia	6224	RPS20	ORPHA:124
HP:0001882	Leukopenia	2623	GATA1	ORPHA:124
HP:0001882	Leukopenia	2623	GATA1	ORPHA:79277
HP:0001882	Leukopenia	6223	RPS19	ORPHA:124
HP:0001882	Leukopenia	6232	RPS27	ORPHA:124
HP:0001882	Leukopenia	6231	RPS26	ORPHA:124
HP:0001882	Leukopenia	11224	RPL35	ORPHA:124
HP:0001882	Leukopenia	6160	RPL31	ORPHA:124
HP:0001882	Leukopenia	6218	RPS17	ORPHA:124
HP:0001882	Leukopenia	6201	RPS7	ORPHA:124
HP:0001882	Leukopenia	6155	RPL27	ORPHA:124
HP:0001882	Leukopenia	6154	RPL26	ORPHA:124
HP:0001882	Leukopenia	6210	RPS15A	ORPHA:124
HP:0001882	Leukopenia	90121	TSR2	ORPHA:124
HP:0001882	Leukopenia	6141	RPL18	ORPHA:124
HP:0001882	Leukopenia	6235	RPS29	ORPHA:124
HP:0001882	Leukopenia	6234	RPS28	ORPHA:124
HP:0001882	Leukopenia	6774	STAT3	ORPHA:520
HP:0001882	Leukopenia	5371	PML	ORPHA:520
HP:0001882	Leukopenia	5914	RARA	ORPHA:520
HP:0001882	Leukopenia	359948	IRF2BP2	ORPHA:520
HP:0001882	Leukopenia	81608	FIP1L1	ORPHA:520
HP:0001882	Leukopenia	4869	NPM1	ORPHA:520
HP:0001882	Leukopenia	5573	PRKAR1A	ORPHA:520
HP:0001882	Leukopenia	54880	BCOR	ORPHA:520
HP:0001882	Leukopenia	64859	NABP1	ORPHA:520
HP:0001882	Leukopenia	6777	STAT5B	ORPHA:520
HP:0001882	Leukopenia	4926	NUMA1	ORPHA:520
HP:0001882	Leukopenia	7704	ZBTB16	ORPHA:520
HP:0001882	Leukopenia	79718	TBL1XR1	ORPHA:520
HP:0001882	Leukopenia	81570	CLPB	OMIM:616271
HP:0001882	Leukopenia	26258	BLOC1S6	OMIM:614171
HP:0001882	Leukopenia	51428	DDX41	OMIM:616871
HP:0001882	Leukopenia	2212	FCGR2A	OMIM:152700
HP:0001882	Leukopenia	2213	FCGR2B	OMIM:152700
HP:0001882	Leukopenia	26191	PTPN22	OMIM:152700
HP:0001882	Leukopenia	11277	TREX1	OMIM:152700
HP:0001882	Leukopenia	1493	CTLA4	OMIM:152700
HP:0001882	Leukopenia	1773	DNASE1	OMIM:152700
HP:0001882	Leukopenia	113235	SLC46A1	OMIM:229050
HP:0001882	Leukopenia	54938	SARS2	OMIM:613845
HP:0001882	Leukopenia	51095	TRNT1	OMIM:616959
HP:0001882	Leukopenia	8883	NAE1	OMIM:620210
HP:0001882	Leukopenia	7390	UROS	ORPHA:79277
HP:0001882	Leukopenia	760	CA2	ORPHA:2785
HP:0001882	Leukopenia	56244	BTNL2	ORPHA:797
HP:0001882	Leukopenia	3123	HLA-DRB1	ORPHA:797
HP:0001882	Leukopenia	2629	GBA1	ORPHA:77259
HP:0001882	Leukopenia	950	SCARB2	ORPHA:77259
HP:0001883	Talipes	9853	RUSC2	OMIM:617773
HP:0001883	Talipes	4010	LMX1B	ORPHA:2614
HP:0001883	Talipes	4010	LMX1B	ORPHA:495818
HP:0001883	Talipes	4010	LMX1B	OMIM:161200
HP:0001883	Talipes	3008	H1-4	OMIM:617537
HP:0001883	Talipes	84942	WDR73	OMIM:251300
HP:0001883	Talipes	1131	CHRM3	ORPHA:2970
HP:0001883	Talipes	1131	CHRM3	OMIM:100100
HP:0001883	Talipes	5830	PEX5	OMIM:214110
HP:0001883	Talipes	5830	PEX5	OMIM:616716
HP:0001883	Talipes	4487	MSX1	ORPHA:199302
HP:0001883	Talipes	5818	NECTIN1	ORPHA:199302
HP:0001883	Talipes	8626	TP63	ORPHA:199302
HP:0001883	Talipes	3664	IRF6	ORPHA:199302
HP:0001883	Talipes	3664	IRF6	OMIM:119500
HP:0001883	Talipes	3190	HNRNPK	ORPHA:453504
HP:0001883	Talipes	3190	HNRNPK	ORPHA:352665
HP:0001883	Talipes	6662	SOX9	ORPHA:140
HP:0001883	Talipes	6662	SOX9	OMIM:114290
HP:0001883	Talipes	10743	RAI1	ORPHA:477817
HP:0001883	Talipes	54332	GDAP1	OMIM:607831
HP:0001883	Talipes	54332	GDAP1	ORPHA:101097
HP:0001883	Talipes	54332	GDAP1	OMIM:608340
HP:0001883	Talipes	56704	JPH1	OMIM:607831
HP:0001883	Talipes	6536	SLC6A9	OMIM:617301
HP:0001883	Talipes	64412	GZF1	OMIM:617662
HP:0001883	Talipes	51111	KMT5B	OMIM:617788
HP:0001883	Talipes	84466	MEGF10	OMIM:614399
HP:0001883	Talipes	2201	FBN2	OMIM:121050
HP:0001883	Talipes	3508	IGHMBP2	OMIM:604320
HP:0001883	Talipes	3508	IGHMBP2	OMIM:616155
HP:0001883	Talipes	81846	SBF2	OMIM:604563
HP:0001883	Talipes	79158	GNPTAB	OMIM:252500
HP:0001883	Talipes	79158	GNPTAB	ORPHA:576
HP:0001883	Talipes	57231	SNX14	ORPHA:397709
HP:0001883	Talipes	57231	SNX14	OMIM:616354
HP:0001883	Talipes	5189	PEX1	OMIM:214100
HP:0001883	Talipes	60561	RINT1	OMIM:618641
HP:0001883	Talipes	129685	TAF8	OMIM:619972
HP:0001883	Talipes	23321	TRIM2	OMIM:615490
HP:0001883	Talipes	9469	CHST3	OMIM:143095
HP:0001883	Talipes	9469	CHST3	OMIM:245600
HP:0001883	Talipes	10606	PAICS	OMIM:619859
HP:0001883	Talipes	3339	HSPG2	ORPHA:1865
HP:0001883	Talipes	3339	HSPG2	OMIM:255800
HP:0001883	Talipes	3339	HSPG2	OMIM:224410
HP:0001883	Talipes	3339	HSPG2	ORPHA:800
HP:0001883	Talipes	1277	COL1A1	ORPHA:287
HP:0001883	Talipes	1289	COL5A1	ORPHA:287
HP:0001883	Talipes	1290	COL5A2	ORPHA:287
HP:0001883	Talipes	1290	COL5A2	OMIM:130010
HP:0001883	Talipes	1281	COL3A1	ORPHA:286
HP:0001883	Talipes	1281	COL3A1	OMIM:618343
HP:0001883	Talipes	1281	COL3A1	OMIM:130050
HP:0001883	Talipes	10815	CPLX1	ORPHA:280
HP:0001883	Talipes	10815	CPLX1	OMIM:194190
HP:0001883	Talipes	54872	PIGG	ORPHA:280
HP:0001883	Talipes	7469	NELFA	ORPHA:280
HP:0001883	Talipes	1487	CTBP1	ORPHA:280
HP:0001883	Talipes	1487	CTBP1	OMIM:194190
HP:0001883	Talipes	3954	LETM1	ORPHA:280
HP:0001883	Talipes	3954	LETM1	OMIM:194190
HP:0001883	Talipes	7468	NSD2	ORPHA:280
HP:0001883	Talipes	7468	NSD2	OMIM:194190
HP:0001883	Talipes	22872	SEC31A	OMIM:618651
HP:0001883	Talipes	57498	KIDINS220	OMIM:619501
HP:0001883	Talipes	5442	POLRMT	OMIM:619743
HP:0001883	Talipes	23327	NEDD4L	OMIM:617201
HP:0001883	Talipes	8642	DCHS1	OMIM:601390
HP:0001883	Talipes	8642	DCHS1	ORPHA:314679
HP:0001883	Talipes	26040	SETBP1	OMIM:269150
HP:0001883	Talipes	8241	RBM10	OMIM:311900
HP:0001883	Talipes	8241	RBM10	ORPHA:2886
HP:0001883	Talipes	9935	MAFB	ORPHA:233
HP:0001883	Talipes	1123	CHN1	ORPHA:233
HP:0001883	Talipes	59341	TRPV4	OMIM:600175
HP:0001883	Talipes	59341	TRPV4	OMIM:181405
HP:0001883	Talipes	79659	DYNC2H1	OMIM:613091
HP:0001883	Talipes	11285	B4GALT7	OMIM:130070
HP:0001883	Talipes	3572	IL6ST	OMIM:619752
HP:0001883	Talipes	10717	AP4B1	OMIM:614066
HP:0001883	Talipes	91574	MTRFR	OMIM:615035
HP:0001883	Talipes	91574	MTRFR	ORPHA:320375
HP:0001883	Talipes	11154	AP4S1	OMIM:614067
HP:0001883	Talipes	7862	BRPF1	OMIM:617333
HP:0001883	Talipes	55773	TBC1D23	OMIM:617695
HP:0001883	Talipes	51633	OTUD6B	OMIM:617452
HP:0001883	Talipes	51633	OTUD6B	ORPHA:505237
HP:0001883	Talipes	84665	MYPN	OMIM:617336
HP:0001883	Talipes	286	ANK1	ORPHA:251066
HP:0001883	Talipes	145258	GSC	OMIM:602471
HP:0001883	Talipes	8898	MTMR2	OMIM:601382
HP:0001883	Talipes	79796	ALG9	ORPHA:79328
HP:0001883	Talipes	8314	BAP1	OMIM:619762
HP:0001883	Talipes	163175	LGI4	OMIM:617468
HP:0001883	Talipes	6901	TAFAZZIN	OMIM:302060
HP:0001883	Talipes	79633	FAT4	ORPHA:314679
HP:0001883	Talipes	79633	FAT4	OMIM:615546
HP:0001883	Talipes	57688	ZSWIM6	OMIM:603671
HP:0001883	Talipes	57688	ZSWIM6	ORPHA:1827
HP:0001883	Talipes	57688	ZSWIM6	OMIM:617865
HP:0001883	Talipes	124583	CANT1	OMIM:251450
HP:0001883	Talipes	4626	MYH8	OMIM:158300
HP:0001883	Talipes	23299	BICD2	OMIM:615290
HP:0001883	Talipes	23299	BICD2	OMIM:618291
HP:0001883	Talipes	7030	TFE3	OMIM:301066
HP:0001883	Talipes	2239	GPC4	ORPHA:373
HP:0001883	Talipes	2239	GPC4	OMIM:312870
HP:0001883	Talipes	2719	GPC3	ORPHA:373
HP:0001883	Talipes	2719	GPC3	OMIM:312870
HP:0001883	Talipes	51651	PTRH2	OMIM:616263
HP:0001883	Talipes	339855	KY	OMIM:617114
HP:0001883	Talipes	339855	KY	ORPHA:496689
HP:0001883	Talipes	23483	TGDS	OMIM:616145
HP:0001883	Talipes	2006	ELN	ORPHA:90348
HP:0001883	Talipes	10516	FBLN5	ORPHA:90348
HP:0001883	Talipes	5832	ALDH18A1	ORPHA:90348
HP:0001883	Talipes	5832	ALDH18A1	OMIM:219150
HP:0001883	Talipes	5832	ALDH18A1	OMIM:616603
HP:0001883	Talipes	79087	ALG12	ORPHA:79324
HP:0001883	Talipes	79087	ALG12	OMIM:607143
HP:0001883	Talipes	79053	ALG8	ORPHA:79325
HP:0001883	Talipes	79053	ALG8	OMIM:608104
HP:0001883	Talipes	79628	SH3TC2	OMIM:601596
HP:0001883	Talipes	10195	ALG3	OMIM:601110
HP:0001883	Talipes	1917	EEF1A2	OMIM:616393
HP:0001883	Talipes	58497	PRUNE1	OMIM:617481
HP:0001883	Talipes	9427	ECEL1	OMIM:615065
HP:0001883	Talipes	7046	TGFBR1	OMIM:609192
HP:0001883	Talipes	1674	DES	OMIM:181400
HP:0001883	Talipes	389827	MYMK	OMIM:254940
HP:0001883	Talipes	389827	MYMK	ORPHA:1358
HP:0001883	Talipes	2879	GPX4	OMIM:250220
HP:0001883	Talipes	9488	PIGB	OMIM:618580
HP:0001883	Talipes	1291	COL6A1	OMIM:254090
HP:0001883	Talipes	1292	COL6A2	OMIM:254090
HP:0001883	Talipes	1293	COL6A3	OMIM:254090
HP:0001883	Talipes	5351	PLOD1	OMIM:225400
HP:0001883	Talipes	5351	PLOD1	ORPHA:1900
HP:0001883	Talipes	160418	TMTC3	OMIM:617255
HP:0001883	Talipes	6885	MAP3K7	OMIM:617137
HP:0001883	Talipes	23314	SATB2	ORPHA:251028
HP:0001883	Talipes	23314	SATB2	ORPHA:251019
HP:0001883	Talipes	23314	SATB2	OMIM:612313
HP:0001883	Talipes	9256	TSPOAP1	ORPHA:101150
HP:0001883	Talipes	7054	TH	ORPHA:101150
HP:0001883	Talipes	10733	PLK4	OMIM:616171
HP:0001883	Talipes	7707	ZNF148	OMIM:617260
HP:0001883	Talipes	91754	NEK9	OMIM:617022
HP:0001883	Talipes	117581	TWIST2	OMIM:200110
HP:0001883	Talipes	117581	TWIST2	OMIM:209885
HP:0001883	Talipes	9179	AP4M1	OMIM:612936
HP:0001883	Talipes	1491	CTH	ORPHA:212
HP:0001883	Talipes	5980	REV3L	ORPHA:570
HP:0001883	Talipes	23129	PLXND1	ORPHA:570
HP:0001883	Talipes	3039	HBA1	ORPHA:98791
HP:0001883	Talipes	3040	HBA2	ORPHA:98791
HP:0001883	Talipes	4998	ORC1	OMIM:224690
HP:0001883	Talipes	23345	SYNE1	OMIM:618484
HP:0001883	Talipes	64856	VWA1	OMIM:619216
HP:0001883	Talipes	1312	COMT	ORPHA:567
HP:0001883	Talipes	221037	JMJD1C	ORPHA:567
HP:0001883	Talipes	2812	GP1BB	ORPHA:567
HP:0001883	Talipes	6239	RREB1	ORPHA:567
HP:0001883	Talipes	7290	HIRA	ORPHA:567
HP:0001883	Talipes	9632	SEC24C	ORPHA:567
HP:0001883	Talipes	7353	UFD1	ORPHA:567
HP:0001883	Talipes	421	ARVCF	ORPHA:567
HP:0001883	Talipes	4547	MTTP	ORPHA:14
HP:0001883	Talipes	2064	ERBB2	OMIM:619465
HP:0001883	Talipes	84896	ATAD1	OMIM:618011
HP:0001883	Talipes	51715	RAB23	ORPHA:65759
HP:0001883	Talipes	1954	MEGF8	ORPHA:65759
HP:0001883	Talipes	1954	MEGF8	OMIM:614976
HP:0001883	Talipes	9244	CRLF1	OMIM:272430
HP:0001883	Talipes	23594	ORC6	OMIM:613803
HP:0001883	Talipes	84265	POLR3GL	OMIM:619234
HP:0001883	Talipes	80347	COASY	OMIM:618266
HP:0001883	Talipes	54809	SAMD9	OMIM:617053
HP:0001883	Talipes	57003	CCDC47	OMIM:618268
HP:0001883	Talipes	10526	IPO8	OMIM:619472
HP:0001883	Talipes	29895	MYL11	OMIM:619110
HP:0001883	Talipes	6711	SPTBN1	OMIM:619475
HP:0001883	Talipes	1387	CREBBP	OMIM:180849
HP:0001883	Talipes	2033	EP300	OMIM:180849
HP:0001883	Talipes	246329	STAC3	ORPHA:168572
HP:0001883	Talipes	25839	COG4	OMIM:618150
HP:0001883	Talipes	25839	COG4	ORPHA:85172
HP:0001883	Talipes	113189	CHST14	OMIM:601776
HP:0001883	Talipes	2571	GAD1	OMIM:619124
HP:0001883	Talipes	285590	SH3PXD2B	OMIM:249420
HP:0001883	Talipes	374879	ZNF699	OMIM:619488
HP:0001883	Talipes	57477	SHROOM4	ORPHA:85288
HP:0001883	Talipes	64093	SMOC1	OMIM:206920
HP:0001883	Talipes	64093	SMOC1	ORPHA:1106
HP:0001883	Talipes	50485	SMARCAL1	OMIM:242900
HP:0001883	Talipes	126792	B3GALT6	OMIM:271640
HP:0001883	Talipes	126792	B3GALT6	ORPHA:93359
HP:0001883	Talipes	126792	B3GALT6	ORPHA:536467
HP:0001883	Talipes	126792	B3GALT6	OMIM:615349
HP:0001883	Talipes	80267	EDEM3	OMIM:619493
HP:0001883	Talipes	1836	SLC26A2	OMIM:256050
HP:0001883	Talipes	1836	SLC26A2	OMIM:226900
HP:0001883	Talipes	1836	SLC26A2	ORPHA:93298
HP:0001883	Talipes	1836	SLC26A2	ORPHA:93307
HP:0001883	Talipes	1836	SLC26A2	OMIM:222600
HP:0001883	Talipes	8242	KDM5C	ORPHA:85279
HP:0001883	Talipes	8242	KDM5C	OMIM:300534
HP:0001883	Talipes	2733	GLE1	OMIM:611890
HP:0001883	Talipes	26276	VPS33B	OMIM:620009
HP:0001883	Talipes	60386	SLC25A19	OMIM:613710
HP:0001883	Talipes	1968	EIF2S3	ORPHA:85282
HP:0001883	Talipes	3295	HSD17B4	OMIM:261515
HP:0001883	Talipes	3295	HSD17B4	OMIM:233400
HP:0001883	Talipes	219844	HYLS1	OMIM:236680
HP:0001883	Talipes	8139	GAN	ORPHA:643
HP:0001883	Talipes	8139	GAN	OMIM:256850
HP:0001883	Talipes	6913	TBX15	OMIM:260660
HP:0001883	Talipes	9927	MFN2	OMIM:617087
HP:0001883	Talipes	8516	ITGA8	OMIM:191830
HP:0001883	Talipes	25793	FBXO7	OMIM:260300
HP:0001883	Talipes	25793	FBXO7	ORPHA:171695
HP:0001883	Talipes	4233	MET	OMIM:620019
HP:0001883	Talipes	7042	TGFB2	OMIM:614816
HP:0001883	Talipes	65055	REEP1	OMIM:620011
HP:0001883	Talipes	168667	BMPER	OMIM:608022
HP:0001883	Talipes	2643	GCH1	OMIM:128230
HP:0001883	Talipes	2643	GCH1	ORPHA:98808
HP:0001883	Talipes	199857	ALG14	OMIM:619036
HP:0001883	Talipes	10262	SF3B4	OMIM:154400
HP:0001883	Talipes	10262	SF3B4	ORPHA:1788
HP:0001883	Talipes	7355	SLC35A2	ORPHA:356961
HP:0001883	Talipes	775	CACNA1C	OMIM:620029
HP:0001883	Talipes	8854	ALDH1A2	OMIM:620025
HP:0001883	Talipes	81839	VANGL1	ORPHA:3027
HP:0001883	Talipes	80199	FUZ	ORPHA:3027
HP:0001883	Talipes	5352	PLOD2	OMIM:609220
HP:0001883	Talipes	5352	PLOD2	ORPHA:2771
HP:0001883	Talipes	64324	NSD1	ORPHA:821
HP:0001883	Talipes	64324	NSD1	ORPHA:3447
HP:0001883	Talipes	29072	SETD2	ORPHA:821
HP:0001883	Talipes	10297	APC2	ORPHA:821
HP:0001883	Talipes	9401	RECQL4	OMIM:268400
HP:0001883	Talipes	9496	TBX4	ORPHA:238578
HP:0001883	Talipes	57222	ERGIC1	OMIM:208100
HP:0001883	Talipes	4649	MYO9A	OMIM:618198
HP:0001883	Talipes	6812	STXBP1	ORPHA:495818
HP:0001883	Talipes	22858	CILK1	OMIM:612651
HP:0001883	Talipes	55788	LMBRD1	OMIM:277380
HP:0001883	Talipes	23431	AP4E1	OMIM:613744
HP:0001883	Talipes	25782	RAB3GAP2	OMIM:212720
HP:0001883	Talipes	9382	COG1	OMIM:611209
HP:0001883	Talipes	9382	COG1	ORPHA:263508
HP:0001883	Talipes	3549	IHH	ORPHA:93388
HP:0001883	Talipes	8200	GDF5	ORPHA:93388
HP:0001883	Talipes	8200	GDF5	OMIM:610017
HP:0001883	Talipes	8200	GDF5	OMIM:113100
HP:0001883	Talipes	658	BMPR1B	ORPHA:93388
HP:0001883	Talipes	658	BMPR1B	OMIM:609441
HP:0001883	Talipes	6595	SMARCA2	OMIM:619293
HP:0001883	Talipes	1146	CHRNG	OMIM:265000
HP:0001883	Talipes	274	BIN1	OMIM:255200
HP:0001883	Talipes	274	BIN1	ORPHA:169186
HP:0001883	Talipes	5119	CHMP1A	OMIM:614961
HP:0001883	Talipes	23522	KAT6B	OMIM:606170
HP:0001883	Talipes	23522	KAT6B	ORPHA:85201
HP:0001883	Talipes	118813	ZFYVE27	OMIM:610244
HP:0001883	Talipes	546	ATRX	ORPHA:847
HP:0001883	Talipes	546	ATRX	OMIM:309580
HP:0001883	Talipes	546	ATRX	OMIM:301040
HP:0001883	Talipes	57190	SELENON	ORPHA:2020
HP:0001883	Talipes	58	ACTA1	ORPHA:2020
HP:0001883	Talipes	4633	MYL2	ORPHA:2020
HP:0001883	Talipes	3679	ITGA7	ORPHA:2020
HP:0001883	Talipes	9200	HACD1	ORPHA:2020
HP:0001883	Talipes	7170	TPM3	ORPHA:2020
HP:0001883	Talipes	51776	MAP3K20	ORPHA:2020
HP:0001883	Talipes	10682	EBP	ORPHA:35173
HP:0001883	Talipes	79813	EHMT1	OMIM:610253
HP:0001883	Talipes	23545	ATP6V0A2	OMIM:278250
HP:0001883	Talipes	2218	FKTN	OMIM:611588
HP:0001883	Talipes	53834	FGFRL1	OMIM:194190
HP:0001883	Talipes	3265	HRAS	OMIM:218040
HP:0001883	Talipes	121512	FGD4	OMIM:609311
HP:0001883	Talipes	5376	PMP22	ORPHA:3115
HP:0001883	Talipes	4359	MPZ	ORPHA:3115
HP:0001883	Talipes	4593	MUSK	OMIM:208150
HP:0001883	Talipes	5828	PEX2	OMIM:614866
HP:0001883	Talipes	79753	SNIP1	OMIM:614501
HP:0001883	Talipes	54499	TMCO1	OMIM:213980
HP:0001883	Talipes	11128	POLR3A	OMIM:264090
HP:0001883	Talipes	55165	CEP55	OMIM:236500
HP:0001883	Talipes	1303	COL12A1	ORPHA:536516
HP:0001883	Talipes	55670	PEX26	OMIM:614872
HP:0001883	Talipes	7443	VRK1	OMIM:607596
HP:0001883	Talipes	3911	LAMA5	OMIM:620076
HP:0001883	Talipes	9101	USP8	ORPHA:401795
HP:0001883	Talipes	2121	EVC	OMIM:225500
HP:0001883	Talipes	132884	EVC2	OMIM:225500
HP:0001883	Talipes	4088	SMAD3	OMIM:613795
HP:0001883	Talipes	6611	SMS	OMIM:309583
HP:0001883	Talipes	2146	EZH2	OMIM:277590
HP:0001883	Talipes	2146	EZH2	ORPHA:3447
HP:0001883	Talipes	7048	TGFBR2	OMIM:610168
HP:0001883	Talipes	55679	LIMS2	OMIM:616827
HP:0001883	Talipes	147372	CCBE1	OMIM:235510
HP:0001883	Talipes	3098	HK1	ORPHA:99953
HP:0001883	Talipes	8726	EED	ORPHA:3447
HP:0001883	Talipes	23512	SUZ12	ORPHA:3447
HP:0001883	Talipes	9775	EIF4A3	OMIM:268305
HP:0001883	Talipes	6622	SNCA	ORPHA:171695
HP:0001883	Talipes	667	DST	OMIM:614653
HP:0001883	Talipes	2316	FLNA	OMIM:309350
HP:0001883	Talipes	57410	SCYL1	OMIM:616719
HP:0001883	Talipes	57410	SCYL1	ORPHA:466794
HP:0001883	Talipes	3315	HSPB1	ORPHA:99940
HP:0001883	Talipes	10290	SPEG	ORPHA:169186
HP:0001883	Talipes	7273	TTN	ORPHA:169186
HP:0001883	Talipes	55906	ZC4H2	OMIM:301041
HP:0001883	Talipes	55906	ZC4H2	OMIM:314580
HP:0001883	Talipes	9158	FIBP	ORPHA:500095
HP:0001883	Talipes	579	NKX3-2	OMIM:613330
HP:0001883	Talipes	2290	FOXG1	OMIM:613454
HP:0001883	Talipes	55593	OTUD5	OMIM:301056
HP:0001883	Talipes	9150	CTDP1	OMIM:604168
HP:0001883	Talipes	91179	SCARF2	OMIM:600920
HP:0001883	Talipes	113179	ADAT3	ORPHA:363528
HP:0001883	Talipes	84162	BLTP1	OMIM:617822
HP:0001883	Talipes	1278	COL1A2	OMIM:617821
HP:0001883	Talipes	55784	MCTP2	ORPHA:1596
HP:0001883	Talipes	55033	FKBP14	OMIM:614557
HP:0001883	Talipes	3897	L1CAM	OMIM:303350
HP:0001883	Talipes	54820	NDE1	OMIM:605013
HP:0001883	Talipes	2891	GRIA2	OMIM:618917
HP:0001883	Talipes	101929726	MYMX	ORPHA:1358
HP:0001883	Talipes	54808	DYM	OMIM:223800
HP:0001883	Talipes	64135	IFIH1	OMIM:182250
HP:0001883	Talipes	5530	PPP3CA	OMIM:617711
HP:0001883	Talipes	57211	ADGRG6	OMIM:616503
HP:0001883	Talipes	284086	NEK8	OMIM:615415
HP:0001883	Talipes	29940	DSE	OMIM:615539
HP:0001883	Talipes	84342	COG8	OMIM:611182
HP:0001883	Talipes	79576	NKAP	OMIM:301039
HP:0001883	Talipes	57449	PLEKHG5	OMIM:611067
HP:0001883	Talipes	57531	HACE1	OMIM:616756
HP:0001883	Talipes	9419	CRIPT	OMIM:615789
HP:0001883	Talipes	29980	DONSON	OMIM:251230
HP:0001883	Talipes	340075	ARSI	ORPHA:401815
HP:0001883	Talipes	4929	NR4A2	ORPHA:98808
HP:0001883	Talipes	3615	IMPDH2	ORPHA:98808
HP:0001883	Talipes	1861	TOR1A	OMIM:618947
HP:0001883	Talipes	23233	EXOC6B	ORPHA:93359
HP:0001883	Talipes	285175	UNC80	ORPHA:371364
HP:0001883	Talipes	54880	BCOR	OMIM:300166
HP:0001883	Talipes	5297	PI4KA	OMIM:616531
HP:0001883	Talipes	953	ENTPD1	OMIM:615683
HP:0001883	Talipes	10293	TRAIP	OMIM:616777
HP:0001883	Talipes	8292	COLQ	ORPHA:98915
HP:0001883	Talipes	3913	LAMB2	ORPHA:98915
HP:0001883	Talipes	54676	GTPBP2	OMIM:617988
HP:0001883	Talipes	113246	C12orf57	OMIM:218340
HP:0001883	Talipes	2273	FHL1	OMIM:300280
HP:0001883	Talipes	139285	AMER1	OMIM:300373
HP:0001883	Talipes	6497	SKI	OMIM:182212
HP:0001883	Talipes	9321	TRIP11	OMIM:200600
HP:0001883	Talipes	2990	GUSB	OMIM:253220
HP:0001883	Talipes	55191	NADSYN1	OMIM:618845
HP:0001883	Talipes	23389	MED13L	OMIM:616789
HP:0001883	Talipes	9939	RBM8A	OMIM:274000
HP:0001883	Talipes	1807	DPYS	OMIM:222748
HP:0001883	Talipes	26229	B3GAT3	OMIM:245600
HP:0001883	Talipes	5307	PITX1	OMIM:119800
HP:0001883	Talipes	22978	NT5C2	OMIM:613162
HP:0001883	Talipes	7043	TGFB3	OMIM:615582
HP:0001883	Talipes	523	ATP6V1A	OMIM:617403
HP:0001883	Talipes	547	KIF1A	OMIM:614255
HP:0001883	Talipes	529	ATP6V1E1	OMIM:617402
HP:0001883	Talipes	8449	DHX16	OMIM:618733
HP:0001883	Talipes	157570	ESCO2	OMIM:268300
HP:0001883	Talipes	55210	ATAD3A	OMIM:617183
HP:0001883	Talipes	8218	CLTCL1	ORPHA:453510
HP:0001883	Talipes	7920	ABHD16A	OMIM:619735
HP:0001883	Talipes	1182	CLCN3	OMIM:619512
HP:0001883	Talipes	84879	MFSD2A	OMIM:616486
HP:0001883	Talipes	8506	CNTNAP1	OMIM:618186
HP:0001883	Talipes	348180	CTU2	OMIM:618142
HP:0001883	Talipes	340419	RSPO2	OMIM:618022
HP:0001883	Talipes	92002	CCNQ	OMIM:300707
HP:0001883	Talipes	23040	MYT1L	OMIM:616521
HP:0001883	Talipes	80036	TRPM3	OMIM:620224
HP:0001883	Talipes	4125	MAN2B1	ORPHA:309282
HP:0001883	Talipes	6857	SYT1	ORPHA:522077
HP:0001883	Talipes	5594	MAPK1	OMIM:619087
HP:0001883	Talipes	10730	YME1L1	OMIM:617302
HP:0001883	Talipes	7291	TWIST1	OMIM:617746
HP:0001883	Talipes	23169	SLC35D1	OMIM:269250
HP:0001883	Talipes	7547	ZIC3	OMIM:306955
HP:0001883	Talipes	342035	GLDN	OMIM:617194
HP:0001883	Talipes	4123	MAN2C1	OMIM:619775
HP:0001883	Talipes	55120	FANCL	OMIM:614083
HP:0001883	Talipes	9487	PIGL	OMIM:280000
HP:0001883	Talipes	29968	PSAT1	ORPHA:284417
HP:0001883	Talipes	1496	CTNNA2	OMIM:618174
HP:0001883	Talipes	8985	PLOD3	OMIM:612394
HP:0001883	Talipes	2720	GLB1	OMIM:253010
HP:0001883	Talipes	7319	UBE2A	ORPHA:163956
HP:0001883	Talipes	6638	SNRPN	ORPHA:177907
HP:0001883	Talipes	9230	RAB11B	OMIM:617807
HP:0001883	Talipes	9949	AMMECR1	OMIM:300990
HP:0001883	Talipes	23476	BRD4	ORPHA:199
HP:0001883	Talipes	9126	SMC3	ORPHA:199
HP:0001883	Talipes	8243	SMC1A	ORPHA:199
HP:0001883	Talipes	8243	SMC1A	OMIM:301044
HP:0001883	Talipes	25836	NIPBL	ORPHA:199
HP:0001883	Talipes	55869	HDAC8	ORPHA:199
HP:0001883	Talipes	5885	RAD21	ORPHA:199
HP:0001883	Talipes	2737	GLI3	ORPHA:672
HP:0001883	Talipes	6309	SC5D	ORPHA:46059
HP:0001883	Talipes	285489	DOK7	OMIM:618389
HP:0001883	Talipes	64327	LMBR1	ORPHA:2378
HP:0001883	Talipes	1778	DYNC1H1	OMIM:614228
HP:0001883	Talipes	79770	TXNDC15	OMIM:619879
HP:0001883	Talipes	79770	TXNDC15	ORPHA:564
HP:0001883	Talipes	4703	NEB	OMIM:256030
HP:0001883	Talipes	2131	EXT1	ORPHA:502
HP:0001883	Talipes	7227	TRPS1	ORPHA:502
HP:0001883	Talipes	5447	POR	ORPHA:95699
HP:0001883	Talipes	6299	SALL1	OMIM:107480
HP:0001883	Talipes	1718	DHCR24	ORPHA:35107
HP:0001883	Talipes	23498	HAAO	OMIM:617660
HP:0001883	Talipes	6261	RYR1	OMIM:117000
HP:0001883	Talipes	55640	FLVCR2	OMIM:225790
HP:0001883	Talipes	8942	KYNU	OMIM:617661
HP:0001883	Talipes	54101	RIPK4	ORPHA:1234
HP:0001883	Talipes	9993	DGCR2	OMIM:192430
HP:0001883	Talipes	8220	ESS2	OMIM:192430
HP:0001883	Talipes	8214	DGCR6	OMIM:192430
HP:0001883	Talipes	54487	DGCR8	OMIM:192430
HP:0001883	Talipes	6899	TBX1	OMIM:192430
HP:0001883	Talipes	55636	CHD7	ORPHA:138
HP:0001883	Talipes	9723	SEMA3E	ORPHA:138
HP:0001883	Talipes	3516	RBPJ	ORPHA:974
HP:0001883	Talipes	4851	NOTCH1	ORPHA:974
HP:0001883	Talipes	57514	ARHGAP31	ORPHA:974
HP:0001883	Talipes	57572	DOCK6	ORPHA:974
HP:0001883	Talipes	285203	EOGT	ORPHA:974
HP:0001883	Talipes	54567	DLL4	ORPHA:974
HP:0001883	Talipes	63895	PIEZO2	ORPHA:376
HP:0001883	Talipes	63895	PIEZO2	ORPHA:2461
HP:0001883	Talipes	3930	LBR	OMIM:215140
HP:0001883	Talipes	4000	LMNA	ORPHA:157973
HP:0001883	Talipes	4000	LMNA	OMIM:613205
HP:0001883	Talipes	2200	FBN1	OMIM:154700
HP:0001883	Talipes	2068	ERCC2	ORPHA:1466
HP:0001883	Talipes	2067	ERCC1	ORPHA:1466
HP:0001883	Talipes	2074	ERCC6	ORPHA:1466
HP:0001883	Talipes	2073	ERCC5	ORPHA:1466
HP:0001883	Talipes	7140	TNNT3	ORPHA:1146
HP:0001883	Talipes	4621	MYH3	ORPHA:1146
HP:0001883	Talipes	7169	TPM2	ORPHA:1146
HP:0001883	Talipes	259232	NALCN	ORPHA:1146
HP:0001883	Talipes	7136	TNNI2	ORPHA:1146
HP:0001883	Talipes	4604	MYBPC1	ORPHA:1146
HP:0001883	Talipes	7476	WNT7A	ORPHA:2879
HP:0001883	Talipes	92344	GORAB	ORPHA:2078
HP:0001883	Talipes	5831	PYCR1	ORPHA:2078
HP:0001883	Talipes	9361	LONP1	ORPHA:79243
HP:0001883	Talipes	5160	PDHA1	ORPHA:79243
HP:0001883	Talipes	10225	CD96	ORPHA:1308
HP:0001883	Talipes	2317	FLNB	OMIM:108720
HP:0001883	Talipes	60681	FKBP10	ORPHA:1149
HP:0001883	Talipes	22827	PUF60	ORPHA:508488
HP:0001883	Talipes	84314	TMEM107	ORPHA:564
HP:0001883	Talipes	26123	TCTN3	ORPHA:564
HP:0001883	Talipes	79867	TCTN2	ORPHA:564
HP:0001883	Talipes	80776	B9D2	ORPHA:564
HP:0001883	Talipes	79600	TCTN1	ORPHA:564
HP:0001883	Talipes	57096	RPGRIP1	ORPHA:564
HP:0001883	Talipes	79848	CSPP1	ORPHA:564
HP:0001883	Talipes	80184	CEP290	ORPHA:564
HP:0001883	Talipes	51259	TMEM216	ORPHA:564
HP:0001883	Talipes	57545	CC2D2A	ORPHA:564
HP:0001883	Talipes	79583	TMEM231	ORPHA:564
HP:0001883	Talipes	91147	TMEM67	ORPHA:564
HP:0001883	Talipes	27077	B9D1	ORPHA:564
HP:0001883	Talipes	23322	RPGRIP1L	ORPHA:564
HP:0001883	Talipes	54903	MKS1	ORPHA:564
HP:0001883	Talipes	54903	MKS1	OMIM:249000
HP:0001883	Talipes	65062	TMEM237	ORPHA:564
HP:0001883	Talipes	1760	DMPK	ORPHA:589821
HP:0001883	Talipes	774	CACNA1B	OMIM:618497
HP:0001883	Talipes	3977	LIFR	OMIM:601559
HP:0001883	Talipes	2702	GJA5	OMIM:612474
HP:0001883	Talipes	2703	GJA8	OMIM:612474
HP:0001883	Talipes	545	ATR	OMIM:210600
HP:0001883	Talipes	57167	SALL4	ORPHA:959
HP:0001883	Talipes	2245	FGD1	ORPHA:915
HP:0001883	Talipes	2313	FLI1	ORPHA:2308
HP:0001883	Talipes	1280	COL2A1	ORPHA:1856
HP:0001883	Talipes	5728	PTEN	ORPHA:137608
HP:0001883	Talipes	1717	DHCR7	OMIM:270400
HP:0001883	Talipes	1717	DHCR7	ORPHA:818
HP:0001883	Talipes	63894	VIPAS39	OMIM:613404
HP:0001883	Talipes	4747	NEFL	ORPHA:99939
HP:0001883	Talipes	55780	ERMARD	ORPHA:75857
HP:0001883	Talipes	8398	PLA2G6	OMIM:610217
HP:0001883	Talipes	23384	SPECC1L	OMIM:600251
HP:0001883	Talipes	10397	NDRG1	OMIM:601455
HP:0001883	Talipes	6872	TAF1	OMIM:300966
HP:0001883	Talipes	4625	MYH7	ORPHA:59135
HP:0001883	Talipes	56997	COQ8A	ORPHA:139485
HP:0001884	Talipes calcaneovalgus	1717	DHCR7	OMIM:270400
HP:0001884	Talipes calcaneovalgus	1717	DHCR7	ORPHA:818
HP:0001884	Talipes calcaneovalgus	1146	CHRNG	OMIM:265000
HP:0001884	Talipes calcaneovalgus	26276	VPS33B	OMIM:208085
HP:0001884	Talipes calcaneovalgus	5376	PMP22	OMIM:118300
HP:0001884	Talipes calcaneovalgus	546	ATRX	OMIM:309580
HP:0001884	Talipes calcaneovalgus	4010	LMX1B	ORPHA:2614
HP:0001884	Talipes calcaneovalgus	2006	ELN	ORPHA:90348
HP:0001884	Talipes calcaneovalgus	10516	FBLN5	ORPHA:90348
HP:0001884	Talipes calcaneovalgus	5832	ALDH18A1	ORPHA:90348
HP:0001884	Talipes calcaneovalgus	63894	VIPAS39	OMIM:613404
HP:0001884	Talipes calcaneovalgus	4747	NEFL	ORPHA:99939
HP:0001884	Talipes calcaneovalgus	55780	ERMARD	ORPHA:75857
HP:0001884	Talipes calcaneovalgus	8398	PLA2G6	OMIM:610217
HP:0001884	Talipes calcaneovalgus	23384	SPECC1L	OMIM:600251
HP:0001885	Short 2nd toe	3209	HOXA13	OMIM:176305
HP:0001885	Short 2nd toe	3209	HOXA13	OMIM:140000
HP:0001885	Short 2nd toe	8481	OFD1	OMIM:311200
HP:0001885	Short 2nd toe	1327	COX4I1	OMIM:619060
HP:0001885	Short 2nd toe	113246	C12orf57	OMIM:218340
HP:0001886	Foot osteomyelitis	22948	CCT5	OMIM:256840
HP:0001886	Foot osteomyelitis	22948	CCT5	ORPHA:139578
HP:0001886	Foot osteomyelitis	7879	RAB7A	OMIM:600882
HP:0001886	Foot osteomyelitis	10558	SPTLC1	OMIM:162400
HP:0001888	Lymphopenia	355	FAS	ORPHA:3261
HP:0001888	Lymphopenia	356	FASLG	ORPHA:3261
HP:0001888	Lymphopenia	5580	PRKCD	ORPHA:3261
HP:0001888	Lymphopenia	5580	PRKCD	ORPHA:1572
HP:0001888	Lymphopenia	843	CASP10	ORPHA:3261
HP:0001888	Lymphopenia	10125	RASGRP1	ORPHA:3261
HP:0001888	Lymphopenia	5728	PTEN	OMIM:605309
HP:0001888	Lymphopenia	5728	PTEN	OMIM:158350
HP:0001888	Lymphopenia	54892	NCAPG2	OMIM:618460
HP:0001888	Lymphopenia	4860	PNP	OMIM:613179
HP:0001888	Lymphopenia	4860	PNP	ORPHA:760
HP:0001888	Lymphopenia	22800	RRAS2	OMIM:618624
HP:0001888	Lymphopenia	6775	STAT4	ORPHA:93552
HP:0001888	Lymphopenia	6696	SPP1	ORPHA:93552
HP:0001888	Lymphopenia	3654	IRAK1	ORPHA:93552
HP:0001888	Lymphopenia	7174	TPP2	ORPHA:444463
HP:0001888	Lymphopenia	114803	MYSM1	ORPHA:508542
HP:0001888	Lymphopenia	4522	MTHFD1	OMIM:617780
HP:0001888	Lymphopenia	11151	CORO1A	OMIM:615401
HP:0001888	Lymphopenia	56259	CTNNBL1	OMIM:619846
HP:0001888	Lymphopenia	26277	TINF2	OMIM:127550
HP:0001888	Lymphopenia	7012	TERC	OMIM:127550
HP:0001888	Lymphopenia	7015	TERT	OMIM:127550
HP:0001888	Lymphopenia	9837	GINS1	OMIM:617827
HP:0001888	Lymphopenia	1991	ELANE	ORPHA:2686
HP:0001888	Lymphopenia	1991	ELANE	ORPHA:486
HP:0001888	Lymphopenia	51816	ADA2	OMIM:182410
HP:0001888	Lymphopenia	51816	ADA2	OMIM:615688
HP:0001888	Lymphopenia	84196	USP48	ORPHA:96253
HP:0001888	Lymphopenia	7157	TP53	ORPHA:96253
HP:0001888	Lymphopenia	9101	USP8	ORPHA:96253
HP:0001888	Lymphopenia	64072	CDH23	ORPHA:96253
HP:0001888	Lymphopenia	2908	NR3C1	ORPHA:96253
HP:0001888	Lymphopenia	673	BRAF	ORPHA:96253
HP:0001888	Lymphopenia	546	ATRX	ORPHA:96253
HP:0001888	Lymphopenia	916	CD3E	ORPHA:169160
HP:0001888	Lymphopenia	916	CD3E	OMIM:615615
HP:0001888	Lymphopenia	3930	LBR	OMIM:613471
HP:0001888	Lymphopenia	50619	DEF6	OMIM:619573
HP:0001888	Lymphopenia	1493	CTLA4	OMIM:616100
HP:0001888	Lymphopenia	7128	TNFAIP3	OMIM:616744
HP:0001888	Lymphopenia	1503	CTPS1	OMIM:615897
HP:0001888	Lymphopenia	92579	G6PC3	OMIM:612541
HP:0001888	Lymphopenia	340061	STING1	OMIM:615934
HP:0001888	Lymphopenia	2624	GATA2	OMIM:614172
HP:0001888	Lymphopenia	7852	CXCR4	ORPHA:51636
HP:0001888	Lymphopenia	4478	MSN	OMIM:300988
HP:0001888	Lymphopenia	79415	CYBC1	OMIM:618935
HP:0001888	Lymphopenia	3070	HELLS	ORPHA:2268
HP:0001888	Lymphopenia	83879	CDCA7	ORPHA:2268
HP:0001888	Lymphopenia	9841	ZBTB24	ORPHA:2268
HP:0001888	Lymphopenia	23495	TNFRSF13B	ORPHA:1572
HP:0001888	Lymphopenia	4790	NFKB1	ORPHA:1572
HP:0001888	Lymphopenia	115650	TNFRSF13C	ORPHA:1572
HP:0001888	Lymphopenia	1380	CR2	ORPHA:1572
HP:0001888	Lymphopenia	8742	TNFSF12	ORPHA:1572
HP:0001888	Lymphopenia	930	CD19	ORPHA:1572
HP:0001888	Lymphopenia	29851	ICOS	ORPHA:1572
HP:0001888	Lymphopenia	931	MS4A1	ORPHA:1572
HP:0001888	Lymphopenia	975	CD81	ORPHA:1572
HP:0001888	Lymphopenia	359948	IRF2BP2	ORPHA:1572
HP:0001888	Lymphopenia	55636	CHD7	OMIM:214800
HP:0001888	Lymphopenia	200734	SPRED2	OMIM:619745
HP:0001888	Lymphopenia	6773	STAT2	OMIM:616636
HP:0001888	Lymphopenia	8883	NAE1	OMIM:620210
HP:0001888	Lymphopenia	80185	TTI2	ORPHA:391307
HP:0001888	Lymphopenia	7454	WAS	OMIM:301000
HP:0001888	Lymphopenia	7454	WAS	ORPHA:906
HP:0001888	Lymphopenia	3572	IL6ST	OMIM:619752
HP:0001888	Lymphopenia	57217	TTC7A	OMIM:243150
HP:0001888	Lymphopenia	54809	SAMD9	OMIM:617053
HP:0001888	Lymphopenia	8879	SGPL1	OMIM:617575
HP:0001888	Lymphopenia	6023	RMRP	OMIM:250250
HP:0001888	Lymphopenia	9508	ADAMTS3	ORPHA:2136
HP:0001888	Lymphopenia	147372	CCBE1	ORPHA:2136
HP:0001888	Lymphopenia	79633	FAT4	ORPHA:2136
HP:0001888	Lymphopenia	5295	PIK3R1	OMIM:616005
HP:0001888	Lymphopenia	7456	WIPF1	ORPHA:906
HP:0001888	Lymphopenia	6789	STK4	OMIM:614868
HP:0001888	Lymphopenia	7036	TFR2	OMIM:604250
HP:0001888	Lymphopenia	51284	TLR7	OMIM:301080
HP:0001888	Lymphopenia	50485	SMARCAL1	ORPHA:1830
HP:0001888	Lymphopenia	50485	SMARCAL1	OMIM:242900
HP:0001888	Lymphopenia	6117	RPA1	OMIM:619767
HP:0001888	Lymphopenia	5294	PIK3CG	OMIM:619802
HP:0001888	Lymphopenia	6948	TCN2	ORPHA:859
HP:0001888	Lymphopenia	64135	IFIH1	OMIM:619773
HP:0001888	Lymphopenia	5692	PSMB4	OMIM:617591
HP:0001888	Lymphopenia	5698	PSMB9	OMIM:617591
HP:0001888	Lymphopenia	7518	XRCC4	OMIM:616541
HP:0001888	Lymphopenia	204	AK2	OMIM:267500
HP:0001888	Lymphopenia	27040	LAT	OMIM:617514
HP:0001888	Lymphopenia	4194	MDM4	OMIM:618849
HP:0001888	Lymphopenia	10312	TCIRG1	ORPHA:486
HP:0001888	Lymphopenia	2672	GFI1	ORPHA:486
HP:0001888	Lymphopenia	6729	SRP54	ORPHA:486
HP:0001888	Lymphopenia	81570	CLPB	ORPHA:486
HP:0001888	Lymphopenia	404672	GTF2H5	OMIM:616395
HP:0001888	Lymphopenia	9652	SKIC3	ORPHA:84064
HP:0001888	Lymphopenia	6499	SKIC2	ORPHA:84064
HP:0001888	Lymphopenia	5297	PI4KA	OMIM:619708
HP:0001888	Lymphopenia	64421	DCLRE1C	OMIM:603554
HP:0001888	Lymphopenia	5557	PRIM1	OMIM:620005
HP:0001888	Lymphopenia	4791	NFKB2	ORPHA:293978
HP:0001888	Lymphopenia	100	ADA	ORPHA:277
HP:0001888	Lymphopenia	2137	EXTL3	ORPHA:508533
HP:0001888	Lymphopenia	1789	DNMT3B	OMIM:242860
HP:0001888	Lymphopenia	6772	STAT1	ORPHA:391487
HP:0001888	Lymphopenia	10043	TOM1	ORPHA:391487
HP:0001888	Lymphopenia	10043	TOM1	OMIM:619510
HP:0001888	Lymphopenia	695	BTK	OMIM:300755
HP:0001888	Lymphopenia	6909	TBX2	OMIM:618223
HP:0001888	Lymphopenia	55388	MCM10	OMIM:619313
HP:0001888	Lymphopenia	8456	FOXN1	OMIM:601705
HP:0001888	Lymphopenia	8456	FOXN1	OMIM:618806
HP:0001888	Lymphopenia	8456	FOXN1	ORPHA:169095
HP:0001888	Lymphopenia	4683	NBN	OMIM:251260
HP:0001888	Lymphopenia	3574	IL7	OMIM:618309
HP:0001888	Lymphopenia	5238	PGM3	ORPHA:443811
HP:0001888	Lymphopenia	5880	RAC2	OMIM:618986
HP:0001888	Lymphopenia	5293	PIK3CD	OMIM:615513
HP:0001888	Lymphopenia	8737	RIPK1	OMIM:618108
HP:0001888	Lymphopenia	3575	IL7R	OMIM:608971
HP:0001888	Lymphopenia	3575	IL7R	ORPHA:169154
HP:0001888	Lymphopenia	9094	UNC119	OMIM:615518
HP:0001888	Lymphopenia	5896	RAG1	OMIM:601457
HP:0001888	Lymphopenia	5896	RAG1	ORPHA:231154
HP:0001888	Lymphopenia	5896	RAG1	OMIM:233650
HP:0001888	Lymphopenia	5897	RAG2	OMIM:601457
HP:0001888	Lymphopenia	5897	RAG2	OMIM:233650
HP:0001888	Lymphopenia	3718	JAK3	OMIM:600802
HP:0001888	Lymphopenia	3718	JAK3	ORPHA:35078
HP:0001888	Lymphopenia	3561	IL2RG	OMIM:300400
HP:0001888	Lymphopenia	23149	FCHO1	OMIM:619164
HP:0001888	Lymphopenia	5788	PTPRC	OMIM:619924
HP:0001888	Lymphopenia	472	ATM	OMIM:208900
HP:0001888	Lymphopenia	5591	PRKDC	OMIM:615966
HP:0001888	Lymphopenia	917	CD3G	OMIM:615607
HP:0001888	Lymphopenia	79840	NHEJ1	ORPHA:169079
HP:0001888	Lymphopenia	57724	EPG5	OMIM:242840
HP:0001888	Lymphopenia	5994	RFXAP	ORPHA:572
HP:0001888	Lymphopenia	4261	CIITA	ORPHA:572
HP:0001888	Lymphopenia	5993	RFX5	ORPHA:572
HP:0001888	Lymphopenia	8625	RFXANK	ORPHA:572
HP:0001888	Lymphopenia	54	ACP5	OMIM:607944
HP:0001888	Lymphopenia	4615	MYD88	OMIM:612260
HP:0001888	Lymphopenia	919	CD247	OMIM:610163
HP:0001888	Lymphopenia	64919	BCL11B	OMIM:617237
HP:0001888	Lymphopenia	915	CD3D	OMIM:615617
HP:0001888	Lymphopenia	3431	SP110	ORPHA:79124
HP:0001888	Lymphopenia	6850	SYK	OMIM:619381
HP:0001888	Lymphopenia	1794	DOCK2	OMIM:616433
HP:0001888	Lymphopenia	3559	IL2RA	OMIM:606367
HP:0001888	Lymphopenia	81704	DOCK8	ORPHA:217390
HP:0001888	Lymphopenia	84061	MAGT1	OMIM:300853
HP:0001888	Lymphopenia	3702	ITK	OMIM:613011
HP:0001888	Lymphopenia	10625	IVNS1ABP	OMIM:618969
HP:0001888	Lymphopenia	3551	IKBKB	OMIM:618204
HP:0001888	Lymphopenia	3932	LCK	OMIM:615758
HP:0001888	Lymphopenia	54440	SASH3	OMIM:301082
HP:0001888	Lymphopenia	90417	KNSTRN	ORPHA:221139
HP:0001888	Lymphopenia	4609	MYC	ORPHA:543
HP:0001888	Lymphopenia	56160	NSMCE3	OMIM:617241
HP:0001888	Lymphopenia	3953	LEPR	ORPHA:179494
HP:0001888	Lymphopenia	3952	LEP	ORPHA:66628
HP:0001888	Lymphopenia	7535	ZAP70	OMIM:269840
HP:0001888	Lymphopenia	7535	ZAP70	ORPHA:911
HP:0001888	Lymphopenia	925	CD8A	OMIM:608957
HP:0001888	Lymphopenia	51095	TRNT1	OMIM:616084
HP:0001888	Lymphopenia	22806	IKZF3	OMIM:619437
HP:0001888	Lymphopenia	987	LRBA	OMIM:614700
HP:0001888	Lymphopenia	8517	IKBKG	OMIM:301081
HP:0001888	Lymphopenia	3507	IGHM	OMIM:601495
HP:0001888	Lymphopenia	9948	WDR1	OMIM:150550
HP:0001888	Lymphopenia	974	CD79B	OMIM:612692
HP:0001888	Lymphopenia	5966	REL	OMIM:619652
HP:0001888	Lymphopenia	23250	ATP11A	OMIM:619851
HP:0001888	Lymphopenia	51371	POMP	OMIM:618048
HP:0001888	Lymphopenia	6929	TCF3	OMIM:616941
HP:0001888	Lymphopenia	6929	TCF3	OMIM:619824
HP:0001888	Lymphopenia	79087	ALG12	ORPHA:79324
HP:0001888	Lymphopenia	51311	TLR8	OMIM:301078
HP:0001888	Lymphopenia	567	B2M	OMIM:241600
HP:0001888	Lymphopenia	10320	IKZF1	OMIM:616873
HP:0001888	Lymphopenia	9138	ARHGEF1	OMIM:618459
HP:0001888	Lymphopenia	64858	DCLRE1B	OMIM:620133
HP:0001888	Lymphopenia	96459	FNIP1	OMIM:619705
HP:0001888	Lymphopenia	6688	SPI1	OMIM:619707
HP:0001888	Lymphopenia	973	CD79A	OMIM:613501
HP:0001888	Lymphopenia	3543	IGLL1	OMIM:613500
HP:0001888	Lymphopenia	7922	SLC39A7	OMIM:619693
HP:0001889	Megaloblastic anemia	8029	CUBN	ORPHA:35858
HP:0001889	Megaloblastic anemia	8029	CUBN	OMIM:261100
HP:0001889	Megaloblastic anemia	81693	AMN	ORPHA:35858
HP:0001889	Megaloblastic anemia	81693	AMN	OMIM:618882
HP:0001889	Megaloblastic anemia	10841	FTCD	ORPHA:51208
HP:0001889	Megaloblastic anemia	10841	FTCD	OMIM:229100
HP:0001889	Megaloblastic anemia	2694	CBLIF	OMIM:261000
HP:0001889	Megaloblastic anemia	25974	MMACHC	ORPHA:79282
HP:0001889	Megaloblastic anemia	25974	MMACHC	OMIM:277400
HP:0001889	Megaloblastic anemia	55788	LMBRD1	ORPHA:79284
HP:0001889	Megaloblastic anemia	55788	LMBRD1	OMIM:277380
HP:0001889	Megaloblastic anemia	27249	MMADHC	OMIM:277410
HP:0001889	Megaloblastic anemia	1719	DHFR	OMIM:613839
HP:0001889	Megaloblastic anemia	4552	MTRR	OMIM:236270
HP:0001889	Megaloblastic anemia	3251	HPRT1	OMIM:300322
HP:0001889	Megaloblastic anemia	7466	WFS1	OMIM:222300
HP:0001889	Megaloblastic anemia	4522	MTHFD1	OMIM:617780
HP:0001889	Megaloblastic anemia	26227	PHGDH	OMIM:601815
HP:0001889	Megaloblastic anemia	26227	PHGDH	ORPHA:79351
HP:0001889	Megaloblastic anemia	4548	MTR	OMIM:250940
HP:0001889	Megaloblastic anemia	5052	PRDX1	OMIM:277400
HP:0001889	Megaloblastic anemia	7372	UMPS	OMIM:258900
HP:0001889	Megaloblastic anemia	113235	SLC46A1	OMIM:229050
HP:0001889	Megaloblastic anemia	6573	SLC19A1	OMIM:601775
HP:0001889	Megaloblastic anemia	10560	SLC19A2	OMIM:249270
HP:0001890	Autoimmune hemolytic anemia	355	FAS	ORPHA:3261
HP:0001890	Autoimmune hemolytic anemia	355	FAS	OMIM:601859
HP:0001890	Autoimmune hemolytic anemia	356	FASLG	ORPHA:3261
HP:0001890	Autoimmune hemolytic anemia	356	FASLG	OMIM:601859
HP:0001890	Autoimmune hemolytic anemia	5580	PRKCD	ORPHA:3261
HP:0001890	Autoimmune hemolytic anemia	5580	PRKCD	OMIM:615559
HP:0001890	Autoimmune hemolytic anemia	843	CASP10	ORPHA:3261
HP:0001890	Autoimmune hemolytic anemia	843	CASP10	OMIM:603909
HP:0001890	Autoimmune hemolytic anemia	10125	RASGRP1	ORPHA:3261
HP:0001890	Autoimmune hemolytic anemia	10125	RASGRP1	OMIM:618534
HP:0001890	Autoimmune hemolytic anemia	6772	STAT1	ORPHA:391487
HP:0001890	Autoimmune hemolytic anemia	6772	STAT1	OMIM:614162
HP:0001890	Autoimmune hemolytic anemia	10043	TOM1	ORPHA:391487
HP:0001890	Autoimmune hemolytic anemia	7454	WAS	OMIM:301000
HP:0001890	Autoimmune hemolytic anemia	57217	TTC7A	OMIM:243150
HP:0001890	Autoimmune hemolytic anemia	57217	TTC7A	ORPHA:436252
HP:0001890	Autoimmune hemolytic anemia	3702	ITK	OMIM:613011
HP:0001890	Autoimmune hemolytic anemia	4683	NBN	OMIM:251260
HP:0001890	Autoimmune hemolytic anemia	4683	NBN	ORPHA:647
HP:0001890	Autoimmune hemolytic anemia	6774	STAT3	OMIM:615952
HP:0001890	Autoimmune hemolytic anemia	4860	PNP	OMIM:613179
HP:0001890	Autoimmune hemolytic anemia	4860	PNP	ORPHA:760
HP:0001890	Autoimmune hemolytic anemia	987	LRBA	OMIM:614700
HP:0001890	Autoimmune hemolytic anemia	7174	TPP2	ORPHA:444463
HP:0001890	Autoimmune hemolytic anemia	7174	TPP2	OMIM:619220
HP:0001890	Autoimmune hemolytic anemia	22861	NLRP1	OMIM:617388
HP:0001890	Autoimmune hemolytic anemia	4790	NFKB1	OMIM:616576
HP:0001890	Autoimmune hemolytic anemia	5294	PIK3CG	OMIM:619802
HP:0001890	Autoimmune hemolytic anemia	917	CD3G	OMIM:615607
HP:0001890	Autoimmune hemolytic anemia	5896	RAG1	ORPHA:231154
HP:0001890	Autoimmune hemolytic anemia	5896	RAG1	ORPHA:331206
HP:0001890	Autoimmune hemolytic anemia	5994	RFXAP	ORPHA:572
HP:0001890	Autoimmune hemolytic anemia	4261	CIITA	ORPHA:572
HP:0001890	Autoimmune hemolytic anemia	5993	RFX5	ORPHA:572
HP:0001890	Autoimmune hemolytic anemia	8625	RFXANK	ORPHA:572
HP:0001890	Autoimmune hemolytic anemia	3937	LCP2	OMIM:619374
HP:0001890	Autoimmune hemolytic anemia	50619	DEF6	OMIM:619573
HP:0001890	Autoimmune hemolytic anemia	1493	CTLA4	OMIM:616100
HP:0001890	Autoimmune hemolytic anemia	919	CD247	OMIM:610163
HP:0001890	Autoimmune hemolytic anemia	100	ADA	OMIM:102700
HP:0001890	Autoimmune hemolytic anemia	50943	FOXP3	ORPHA:37042
HP:0001890	Autoimmune hemolytic anemia	5897	RAG2	ORPHA:331206
HP:0001890	Autoimmune hemolytic anemia	6786	STIM1	OMIM:612783
HP:0001890	Autoimmune hemolytic anemia	5297	PI4KA	ORPHA:436252
HP:0001890	Autoimmune hemolytic anemia	51311	TLR8	OMIM:301078
HP:0001890	Autoimmune hemolytic anemia	56984	PSMG2	OMIM:619183
HP:0001890	Autoimmune hemolytic anemia	28755	TRAC	OMIM:615387
HP:0001890	Autoimmune hemolytic anemia	3560	IL2RB	OMIM:618495
HP:0001890	Autoimmune hemolytic anemia	7535	ZAP70	ORPHA:911
HP:0001890	Autoimmune hemolytic anemia	3559	IL2RA	OMIM:606367
HP:0001890	Autoimmune hemolytic anemia	54	ACP5	ORPHA:1855
HP:0001891	Iron deficiency anemia	3043	HBB	ORPHA:232
HP:0001891	Iron deficiency anemia	7454	WAS	OMIM:301000
HP:0001891	Iron deficiency anemia	8074	FGF23	ORPHA:89937
HP:0001891	Iron deficiency anemia	324	APC	ORPHA:261584
HP:0001891	Iron deficiency anemia	2590	GALNT2	OMIM:618885
HP:0001891	Iron deficiency anemia	212	ALAS2	OMIM:300752
HP:0001891	Iron deficiency anemia	85365	ALG2	OMIM:607906
HP:0001891	Iron deficiency anemia	8260	NAA10	OMIM:300855
HP:0001891	Iron deficiency anemia	2335	FN1	ORPHA:93315
HP:0001891	Iron deficiency anemia	1280	COL2A1	ORPHA:93315
HP:0001891	Iron deficiency anemia	50943	FOXP3	ORPHA:37042
HP:0001891	Iron deficiency anemia	3753	KCNE1	ORPHA:90647
HP:0001891	Iron deficiency anemia	3784	KCNQ1	ORPHA:90647
HP:0001891	Iron deficiency anemia	6794	STK11	OMIM:175200
HP:0001891	Iron deficiency anemia	3117	HLA-DQA1	OMIM:212750
HP:0001891	Iron deficiency anemia	3119	HLA-DQB1	OMIM:212750
HP:0001891	Iron deficiency anemia	9451	EIF2AK3	ORPHA:1667
HP:0001891	Iron deficiency anemia	2000	ELF4	OMIM:301074
HP:0001891	Iron deficiency anemia	1616	DAXX	ORPHA:100075
HP:0001891	Iron deficiency anemia	546	ATRX	ORPHA:100075
HP:0001891	Iron deficiency anemia	4312	MMP1	ORPHA:79408
HP:0001891	Iron deficiency anemia	1294	COL7A1	ORPHA:79408
HP:0001891	Iron deficiency anemia	1604	CD55	OMIM:226300
HP:0001891	Iron deficiency anemia	374879	ZNF699	OMIM:619488
HP:0001891	Iron deficiency anemia	10845	CLPX	OMIM:618015
HP:0001891	Iron deficiency anemia	5825	ABCD3	OMIM:616278
HP:0001891	Iron deficiency anemia	5321	PLA2G4A	OMIM:618372
HP:0001891	Iron deficiency anemia	355	FAS	OMIM:601859
HP:0001891	Iron deficiency anemia	356	FASLG	OMIM:601859
HP:0001891	Iron deficiency anemia	843	CASP10	OMIM:603909
HP:0001891	Iron deficiency anemia	1188	CLCNKB	ORPHA:358
HP:0001891	Iron deficiency anemia	6559	SLC12A3	ORPHA:358
HP:0001901	Polycythemia	669	BPGM	OMIM:222800
HP:0001901	Polycythemia	3717	JAK2	OMIM:133100
HP:0001901	Polycythemia	3717	JAK2	OMIM:263300
HP:0001901	Polycythemia	10019	SH2B3	OMIM:133100
HP:0001901	Polycythemia	2057	EPOR	OMIM:133100
HP:0001901	Polycythemia	2034	EPAS1	OMIM:611783
HP:0001901	Polycythemia	2056	EPO	OMIM:617907
HP:0001901	Polycythemia	7428	VHL	OMIM:263400
HP:0001901	Polycythemia	54583	EGLN1	OMIM:609820
HP:0001901	Polycythemia	3040	HBA2	OMIM:617981
HP:0001901	Polycythemia	3039	HBA1	OMIM:617981
HP:0001901	Polycythemia	3043	HBB	OMIM:617980
HP:0001901	Polycythemia	2271	FH	OMIM:606812
HP:0001901	Polycythemia	94	ACVRL1	OMIM:600376
HP:0001901	Polycythemia	595	CCND1	ORPHA:892
HP:0001901	Polycythemia	595	CCND1	OMIM:193300
HP:0001901	Polycythemia	2022	ENG	OMIM:187300
HP:0001901	Polycythemia	1910	EDNRB	OMIM:600501
HP:0001901	Polycythemia	1727	CYB5R3	OMIM:250800
HP:0001901	Polycythemia	55532	SLC30A10	OMIM:613280
HP:0001901	Polycythemia	55532	SLC30A10	ORPHA:309854
HP:0001901	Polycythemia	8260	NAA10	OMIM:300855
HP:0001901	Polycythemia	5313	PKLR	OMIM:102900
HP:0001901	Polycythemia	6521	SLC4A1	ORPHA:3202
HP:0001901	Polycythemia	9780	PIEZO1	ORPHA:3202
HP:0001901	Polycythemia	3783	KCNN4	ORPHA:3202
HP:0001894	Thrombocytosis	38	ACAT1	ORPHA:134
HP:0001894	Thrombocytosis	3043	HBB	ORPHA:232
HP:0001894	Thrombocytosis	9051	PSTPIP1	OMIM:604416
HP:0001894	Thrombocytosis	4352	MPL	ORPHA:71493
HP:0001894	Thrombocytosis	4352	MPL	ORPHA:824
HP:0001894	Thrombocytosis	4352	MPL	OMIM:601977
HP:0001894	Thrombocytosis	7066	THPO	ORPHA:71493
HP:0001894	Thrombocytosis	7066	THPO	OMIM:187950
HP:0001894	Thrombocytosis	3717	JAK2	ORPHA:71493
HP:0001894	Thrombocytosis	3717	JAK2	OMIM:263300
HP:0001894	Thrombocytosis	3717	JAK2	OMIM:614521
HP:0001894	Thrombocytosis	3717	JAK2	ORPHA:824
HP:0001894	Thrombocytosis	3155	HMGCL	ORPHA:20
HP:0001894	Thrombocytosis	5966	REL	OMIM:619652
HP:0001894	Thrombocytosis	57217	TTC7A	OMIM:243150
HP:0001894	Thrombocytosis	9652	SKIC3	OMIM:222470
HP:0001894	Thrombocytosis	9652	SKIC3	ORPHA:84064
HP:0001894	Thrombocytosis	6208	RPS14	ORPHA:86841
HP:0001894	Thrombocytosis	3783	KCNN4	OMIM:616689
HP:0001894	Thrombocytosis	3458	IFNG	OMIM:618963
HP:0001894	Thrombocytosis	340061	STING1	OMIM:615934
HP:0001894	Thrombocytosis	811	CALR	ORPHA:824
HP:0001894	Thrombocytosis	811	CALR	OMIM:187950
HP:0001894	Thrombocytosis	54790	TET2	ORPHA:824
HP:0001894	Thrombocytosis	54790	TET2	ORPHA:75564
HP:0001894	Thrombocytosis	3117	HLA-DQA1	OMIM:212750
HP:0001894	Thrombocytosis	3119	HLA-DQB1	OMIM:212750
HP:0001894	Thrombocytosis	526	ATP6V1B2	ORPHA:79500
HP:0001894	Thrombocytosis	57465	TBC1D24	ORPHA:79500
HP:0001894	Thrombocytosis	6223	RPS19	OMIM:105650
HP:0001894	Thrombocytosis	6223	RPS19	ORPHA:124
HP:0001894	Thrombocytosis	23451	SF3B1	ORPHA:75564
HP:0001894	Thrombocytosis	5293	PIK3CD	OMIM:619281
HP:0001894	Thrombocytosis	613	BCR	ORPHA:521
HP:0001894	Thrombocytosis	25	ABL1	ORPHA:521
HP:0001894	Thrombocytosis	861	RUNX1	ORPHA:521
HP:0001894	Thrombocytosis	6135	RPL11	ORPHA:124
HP:0001894	Thrombocytosis	6138	RPL15	ORPHA:124
HP:0001894	Thrombocytosis	6229	RPS24	ORPHA:124
HP:0001894	Thrombocytosis	6125	RPL5	ORPHA:124
HP:0001894	Thrombocytosis	6204	RPS10	ORPHA:124
HP:0001894	Thrombocytosis	6224	RPS20	ORPHA:124
HP:0001894	Thrombocytosis	6165	RPL35A	ORPHA:124
HP:0001894	Thrombocytosis	2623	GATA1	ORPHA:124
HP:0001894	Thrombocytosis	6232	RPS27	ORPHA:124
HP:0001894	Thrombocytosis	6231	RPS26	ORPHA:124
HP:0001894	Thrombocytosis	11224	RPL35	ORPHA:124
HP:0001894	Thrombocytosis	6160	RPL31	ORPHA:124
HP:0001894	Thrombocytosis	6218	RPS17	ORPHA:124
HP:0001894	Thrombocytosis	6201	RPS7	ORPHA:124
HP:0001894	Thrombocytosis	6155	RPL27	ORPHA:124
HP:0001894	Thrombocytosis	6154	RPL26	ORPHA:124
HP:0001894	Thrombocytosis	6210	RPS15A	ORPHA:124
HP:0001894	Thrombocytosis	90121	TSR2	ORPHA:124
HP:0001894	Thrombocytosis	6141	RPL18	ORPHA:124
HP:0001894	Thrombocytosis	6235	RPS29	ORPHA:124
HP:0001894	Thrombocytosis	6234	RPS28	ORPHA:124
HP:0001894	Thrombocytosis	51816	ADA2	ORPHA:124
HP:0001894	Thrombocytosis	51816	ADA2	OMIM:615688
HP:0001894	Thrombocytosis	2000	ELF4	OMIM:301074
HP:0001894	Thrombocytosis	10019	SH2B3	OMIM:187950
HP:0001894	Thrombocytosis	4522	MTHFD1	OMIM:617780
HP:0001894	Thrombocytosis	1604	CD55	OMIM:226300
HP:0001894	Thrombocytosis	144811	LACC1	OMIM:618795
HP:0001894	Thrombocytosis	7040	TGFB1	OMIM:618213
HP:0001894	Thrombocytosis	4141	MARS1	OMIM:615486
HP:0001894	Thrombocytosis	3162	HMOX1	OMIM:614034
HP:0001894	Thrombocytosis	6499	SKIC2	ORPHA:84064
HP:0001894	Thrombocytosis	3459	IFNGR1	OMIM:209950
HP:0001894	Thrombocytosis	1991	ELANE	OMIM:202700
HP:0001894	Thrombocytosis	5373	PMM2	OMIM:212065
HP:0001894	Thrombocytosis	3921	RPSA	OMIM:271400
HP:0001895	Normochromic anemia	6135	RPL11	ORPHA:124
HP:0001895	Normochromic anemia	6138	RPL15	ORPHA:124
HP:0001895	Normochromic anemia	6138	RPL15	OMIM:615550
HP:0001895	Normochromic anemia	6229	RPS24	ORPHA:124
HP:0001895	Normochromic anemia	6125	RPL5	ORPHA:124
HP:0001895	Normochromic anemia	6204	RPS10	ORPHA:124
HP:0001895	Normochromic anemia	6224	RPS20	ORPHA:124
HP:0001895	Normochromic anemia	6165	RPL35A	ORPHA:124
HP:0001895	Normochromic anemia	2623	GATA1	ORPHA:124
HP:0001895	Normochromic anemia	6223	RPS19	ORPHA:124
HP:0001895	Normochromic anemia	6232	RPS27	ORPHA:124
HP:0001895	Normochromic anemia	6231	RPS26	ORPHA:124
HP:0001895	Normochromic anemia	11224	RPL35	ORPHA:124
HP:0001895	Normochromic anemia	6160	RPL31	ORPHA:124
HP:0001895	Normochromic anemia	6218	RPS17	ORPHA:124
HP:0001895	Normochromic anemia	6201	RPS7	ORPHA:124
HP:0001895	Normochromic anemia	6155	RPL27	ORPHA:124
HP:0001895	Normochromic anemia	6154	RPL26	ORPHA:124
HP:0001895	Normochromic anemia	6210	RPS15A	ORPHA:124
HP:0001895	Normochromic anemia	90121	TSR2	ORPHA:124
HP:0001895	Normochromic anemia	6141	RPL18	ORPHA:124
HP:0001895	Normochromic anemia	6235	RPS29	ORPHA:124
HP:0001895	Normochromic anemia	6234	RPS28	ORPHA:124
HP:0001895	Normochromic anemia	51816	ADA2	ORPHA:124
HP:0001895	Normochromic anemia	3931	LCAT	OMIM:245900
HP:0001895	Normochromic anemia	11277	TREX1	ORPHA:247691
HP:0001895	Normochromic anemia	7386	UQCRFS1	OMIM:618775
HP:0001895	Normochromic anemia	7167	TPI1	OMIM:615512
HP:0001895	Normochromic anemia	3098	HK1	OMIM:235700
HP:0001895	Normochromic anemia	226	ALDOA	OMIM:611881
HP:0001895	Normochromic anemia	54790	TET2	ORPHA:98826
HP:0001895	Normochromic anemia	54790	TET2	ORPHA:98849
HP:0001895	Normochromic anemia	54790	TET2	ORPHA:75564
HP:0001895	Normochromic anemia	171023	ASXL1	ORPHA:98849
HP:0001895	Normochromic anemia	3815	KIT	ORPHA:98849
HP:0001895	Normochromic anemia	6427	SRSF2	ORPHA:98849
HP:0001895	Normochromic anemia	950	SCARB2	OMIM:254900
HP:0001895	Normochromic anemia	5826	ABCD4	OMIM:614857
HP:0001895	Normochromic anemia	23451	SF3B1	ORPHA:75564
HP:0001896	Reticulocytopenia	114803	MYSM1	ORPHA:508542
HP:0001896	Reticulocytopenia	6135	RPL11	ORPHA:124
HP:0001896	Reticulocytopenia	6138	RPL15	ORPHA:124
HP:0001896	Reticulocytopenia	6138	RPL15	OMIM:615550
HP:0001896	Reticulocytopenia	6229	RPS24	ORPHA:124
HP:0001896	Reticulocytopenia	6229	RPS24	OMIM:610629
HP:0001896	Reticulocytopenia	6125	RPL5	ORPHA:124
HP:0001896	Reticulocytopenia	6204	RPS10	ORPHA:124
HP:0001896	Reticulocytopenia	6224	RPS20	ORPHA:124
HP:0001896	Reticulocytopenia	6165	RPL35A	ORPHA:124
HP:0001896	Reticulocytopenia	6165	RPL35A	OMIM:612528
HP:0001896	Reticulocytopenia	2623	GATA1	ORPHA:124
HP:0001896	Reticulocytopenia	6223	RPS19	ORPHA:124
HP:0001896	Reticulocytopenia	6223	RPS19	OMIM:105650
HP:0001896	Reticulocytopenia	6232	RPS27	ORPHA:124
HP:0001896	Reticulocytopenia	6231	RPS26	ORPHA:124
HP:0001896	Reticulocytopenia	6231	RPS26	OMIM:613309
HP:0001896	Reticulocytopenia	11224	RPL35	ORPHA:124
HP:0001896	Reticulocytopenia	6160	RPL31	ORPHA:124
HP:0001896	Reticulocytopenia	6218	RPS17	ORPHA:124
HP:0001896	Reticulocytopenia	6218	RPS17	OMIM:612527
HP:0001896	Reticulocytopenia	6201	RPS7	ORPHA:124
HP:0001896	Reticulocytopenia	6155	RPL27	ORPHA:124
HP:0001896	Reticulocytopenia	6154	RPL26	ORPHA:124
HP:0001896	Reticulocytopenia	6210	RPS15A	ORPHA:124
HP:0001896	Reticulocytopenia	90121	TSR2	ORPHA:124
HP:0001896	Reticulocytopenia	6141	RPL18	ORPHA:124
HP:0001896	Reticulocytopenia	6235	RPS29	ORPHA:124
HP:0001896	Reticulocytopenia	6234	RPS28	ORPHA:124
HP:0001896	Reticulocytopenia	51816	ADA2	ORPHA:124
HP:0001896	Reticulocytopenia	2177	FANCD2	OMIM:227646
HP:0001896	Reticulocytopenia	3458	IFNG	ORPHA:88
HP:0001896	Reticulocytopenia	5551	PRF1	ORPHA:88
HP:0001896	Reticulocytopenia	7012	TERC	ORPHA:88
HP:0001896	Reticulocytopenia	51119	SBDS	ORPHA:88
HP:0001896	Reticulocytopenia	7015	TERT	ORPHA:88
HP:0001896	Reticulocytopenia	2176	FANCC	OMIM:227645
HP:0001896	Reticulocytopenia	2178	FANCE	OMIM:600901
HP:0001896	Reticulocytopenia	55240	STEAP3	ORPHA:300298
HP:0001896	Reticulocytopenia	2175	FANCA	OMIM:227650
HP:0001896	Reticulocytopenia	6948	TCN2	OMIM:275350
HP:0001897	Normocytic anemia	4552	MTRR	OMIM:236270
HP:0001897	Normocytic anemia	4615	MYD88	ORPHA:33226
HP:0001897	Normocytic anemia	11277	TREX1	ORPHA:247691
HP:0001897	Normocytic anemia	537	ATP6AP1	OMIM:300972
HP:0001897	Normocytic anemia	7167	TPI1	OMIM:615512
HP:0001897	Normocytic anemia	3098	HK1	OMIM:235700
HP:0001897	Normocytic anemia	1861	TOR1A	OMIM:618947
HP:0001897	Normocytic anemia	79631	EFL1	OMIM:617941
HP:0001897	Normocytic anemia	79631	EFL1	ORPHA:811
HP:0001897	Normocytic anemia	226	ALDOA	OMIM:611881
HP:0001897	Normocytic anemia	54790	TET2	ORPHA:98826
HP:0001897	Normocytic anemia	54790	TET2	ORPHA:98849
HP:0001897	Normocytic anemia	54790	TET2	ORPHA:75564
HP:0001897	Normocytic anemia	171023	ASXL1	ORPHA:98849
HP:0001897	Normocytic anemia	3815	KIT	ORPHA:98849
HP:0001897	Normocytic anemia	6427	SRSF2	ORPHA:98849
HP:0001897	Normocytic anemia	6235	RPS29	OMIM:615909
HP:0001897	Normocytic anemia	134218	DNAJC21	ORPHA:811
HP:0001897	Normocytic anemia	51119	SBDS	ORPHA:811
HP:0001897	Normocytic anemia	6729	SRP54	ORPHA:811
HP:0001897	Normocytic anemia	23451	SF3B1	ORPHA:75564
HP:0001898	Increased red blood cell mass	3717	JAK2	OMIM:133100
HP:0001898	Increased red blood cell mass	3717	JAK2	OMIM:263300
HP:0001898	Increased red blood cell mass	10019	SH2B3	OMIM:133100
HP:0001898	Increased red blood cell mass	2057	EPOR	OMIM:133100
HP:0001898	Increased red blood cell mass	7428	VHL	OMIM:263400
HP:0001898	Increased red blood cell mass	54583	EGLN1	OMIM:609820
HP:0001899	Increased hematocrit	669	BPGM	OMIM:222800
HP:0001899	Increased hematocrit	3717	JAK2	OMIM:133100
HP:0001899	Increased hematocrit	3717	JAK2	OMIM:263300
HP:0001899	Increased hematocrit	10019	SH2B3	OMIM:133100
HP:0001899	Increased hematocrit	2057	EPOR	OMIM:133100
HP:0001899	Increased hematocrit	2034	EPAS1	OMIM:611783
HP:0001899	Increased hematocrit	2056	EPO	OMIM:617907
HP:0001899	Increased hematocrit	7428	VHL	OMIM:263400
HP:0001899	Increased hematocrit	54583	EGLN1	OMIM:609820
HP:0001899	Increased hematocrit	3040	HBA2	OMIM:617981
HP:0001899	Increased hematocrit	3039	HBA1	OMIM:617981
HP:0001899	Increased hematocrit	3043	HBB	OMIM:617980
HP:0004302	Functional motor deficit	25792	CIZ1	ORPHA:420492
HP:0004302	Functional motor deficit	3064	HTT	ORPHA:399
HP:0004302	Functional motor deficit	6515	SLC2A3	ORPHA:399
HP:0004302	Functional motor deficit	23769	FLRT1	ORPHA:320406
HP:0004302	Functional motor deficit	64837	KLC2	ORPHA:320406
HP:0004302	Functional motor deficit	91574	MTRFR	ORPHA:254930
HP:0004302	Functional motor deficit	91574	MTRFR	OMIM:615035
HP:0004302	Functional motor deficit	6834	SURF1	OMIM:616684
HP:0004302	Functional motor deficit	57165	GJC2	ORPHA:320401
HP:0004302	Functional motor deficit	8838	CCN6	OMIM:208230
HP:0004302	Functional motor deficit	55532	SLC30A10	ORPHA:309854
HP:0004302	Functional motor deficit	22880	MORC2	OMIM:616688
HP:0004302	Functional motor deficit	22880	MORC2	ORPHA:466768
HP:0004302	Functional motor deficit	1161	ERCC8	ORPHA:90324
HP:0004302	Functional motor deficit	1161	ERCC8	ORPHA:90321
HP:0004302	Functional motor deficit	1161	ERCC8	ORPHA:90322
HP:0004302	Functional motor deficit	2074	ERCC6	ORPHA:90324
HP:0004302	Functional motor deficit	2074	ERCC6	ORPHA:90321
HP:0004302	Functional motor deficit	2074	ERCC6	ORPHA:90322
HP:0004302	Functional motor deficit	80821	DDHD1	OMIM:609340
HP:0004302	Functional motor deficit	1024	CDK8	OMIM:618748
HP:0004302	Functional motor deficit	60684	TRAPPC11	OMIM:615356
HP:0004302	Functional motor deficit	60684	TRAPPC11	ORPHA:369840
HP:0004302	Functional motor deficit	60684	TRAPPC11	ORPHA:369847
HP:0004302	Functional motor deficit	1593	CYP27A1	OMIM:213700
HP:0004302	Functional motor deficit	825	CAPN3	OMIM:253600
HP:0004302	Functional motor deficit	825	CAPN3	ORPHA:267
HP:0004302	Functional motor deficit	2072	ERCC4	ORPHA:90321
HP:0004302	Functional motor deficit	2067	ERCC1	ORPHA:90322
HP:0004302	Functional motor deficit	200205	IBA57	ORPHA:468661
HP:0004302	Functional motor deficit	58	ACTA1	ORPHA:171433
HP:0004302	Functional motor deficit	58	ACTA1	ORPHA:171439
HP:0004302	Functional motor deficit	4703	NEB	ORPHA:171433
HP:0004302	Functional motor deficit	4703	NEB	ORPHA:171439
HP:0004302	Functional motor deficit	10324	KLHL41	ORPHA:171433
HP:0004302	Functional motor deficit	10324	KLHL41	ORPHA:171439
HP:0004302	Functional motor deficit	7170	TPM3	ORPHA:171433
HP:0004302	Functional motor deficit	7170	TPM3	ORPHA:171439
HP:0004302	Functional motor deficit	5917	RARS1	ORPHA:438114
HP:0004302	Functional motor deficit	6616	SNAP25	OMIM:616330
HP:0004302	Functional motor deficit	6616	SNAP25	ORPHA:98914
HP:0004302	Functional motor deficit	1763	DNA2	ORPHA:352470
HP:0004302	Functional motor deficit	120227	CYP2R1	OMIM:600081
HP:0004302	Functional motor deficit	120227	CYP2R1	ORPHA:289157
HP:0004302	Functional motor deficit	81846	SBF2	OMIM:604563
HP:0004302	Functional motor deficit	81846	SBF2	ORPHA:99956
HP:0004302	Functional motor deficit	79147	FKRP	OMIM:607155
HP:0004302	Functional motor deficit	79147	FKRP	OMIM:606612
HP:0004302	Functional motor deficit	79147	FKRP	ORPHA:370980
HP:0004302	Functional motor deficit	29925	GMPPB	ORPHA:353327
HP:0004302	Functional motor deficit	2673	GFPT1	ORPHA:353327
HP:0004302	Functional motor deficit	1798	DPAGT1	ORPHA:353327
HP:0004302	Functional motor deficit	85365	ALG2	ORPHA:353327
HP:0004302	Functional motor deficit	199857	ALG14	ORPHA:353327
HP:0004302	Functional motor deficit	199857	ALG14	OMIM:616227
HP:0004302	Functional motor deficit	410	ARSA	ORPHA:309271
HP:0004302	Functional motor deficit	5660	PSAP	ORPHA:309271
HP:0004302	Functional motor deficit	6444	SGCD	OMIM:601287
HP:0004302	Functional motor deficit	60482	SLC5A7	OMIM:158580
HP:0004302	Functional motor deficit	60482	SLC5A7	ORPHA:98914
HP:0004302	Functional motor deficit	55154	MSTO1	OMIM:617675
HP:0004302	Functional motor deficit	55154	MSTO1	ORPHA:502423
HP:0004302	Functional motor deficit	215	ABCD1	ORPHA:139396
HP:0004302	Functional motor deficit	84876	ORAI1	OMIM:612782
HP:0004302	Functional motor deficit	1759	DNM1	OMIM:616346
HP:0004302	Functional motor deficit	1759	DNM1	ORPHA:442835
HP:0004302	Functional motor deficit	81857	MED25	ORPHA:464738
HP:0004302	Functional motor deficit	55157	DARS2	ORPHA:137898
HP:0004302	Functional motor deficit	7273	TTN	ORPHA:609
HP:0004302	Functional motor deficit	7273	TTN	OMIM:603689
HP:0004302	Functional motor deficit	8878	SQSTM1	ORPHA:603
HP:0004302	Functional motor deficit	7072	TIA1	ORPHA:603
HP:0004302	Functional motor deficit	4625	MYH7	OMIM:608358
HP:0004302	Functional motor deficit	4625	MYH7	ORPHA:437572
HP:0004302	Functional motor deficit	5190	PEX6	ORPHA:95433
HP:0004302	Functional motor deficit	29967	LRP12	OMIM:164310
HP:0004302	Functional motor deficit	9782	MATR3	ORPHA:600
HP:0004302	Functional motor deficit	83480	PUS3	ORPHA:488627
HP:0004302	Functional motor deficit	823	CAPN1	OMIM:616907
HP:0004302	Functional motor deficit	343641	TGM6	ORPHA:276193
HP:0004302	Functional motor deficit	343641	TGM6	OMIM:613908
HP:0004302	Functional motor deficit	5354	PLP1	ORPHA:280210
HP:0004302	Functional motor deficit	5354	PLP1	ORPHA:280219
HP:0004302	Functional motor deficit	5354	PLP1	ORPHA:280234
HP:0004302	Functional motor deficit	5354	PLP1	ORPHA:280229
HP:0004302	Functional motor deficit	57531	HACE1	ORPHA:464282
HP:0004302	Functional motor deficit	10367	MICU1	ORPHA:401768
HP:0004302	Functional motor deficit	10367	MICU1	OMIM:615673
HP:0004302	Functional motor deficit	23400	ATP13A2	ORPHA:513436
HP:0004302	Functional motor deficit	23400	ATP13A2	ORPHA:306674
HP:0004302	Functional motor deficit	26278	SACS	ORPHA:98
HP:0004302	Functional motor deficit	8557	TCAP	OMIM:601954
HP:0004302	Functional motor deficit	5297	PI4KA	OMIM:619621
HP:0004302	Functional motor deficit	1656	DDX6	OMIM:618653
HP:0004302	Functional motor deficit	1594	CYP27B1	OMIM:264700
HP:0004302	Functional motor deficit	1594	CYP27B1	ORPHA:289157
HP:0004302	Functional motor deficit	246243	RNASEH1	OMIM:616479
HP:0004302	Functional motor deficit	55526	DHTKD1	OMIM:615025
HP:0004302	Functional motor deficit	10352	WARS2	ORPHA:572798
HP:0004302	Functional motor deficit	5376	PMP22	ORPHA:90658
HP:0004302	Functional motor deficit	5376	PMP22	ORPHA:3115
HP:0004302	Functional motor deficit	3737	KCNA2	ORPHA:442835
HP:0004302	Functional motor deficit	8120	AP3B2	ORPHA:442835
HP:0004302	Functional motor deficit	523	ATP6V1A	ORPHA:442835
HP:0004302	Functional motor deficit	10991	SLC38A3	ORPHA:442835
HP:0004302	Functional motor deficit	51343	FZR1	ORPHA:442835
HP:0004302	Functional motor deficit	22906	TRAK1	ORPHA:442835
HP:0004302	Functional motor deficit	2566	GABRG2	ORPHA:442835
HP:0004302	Functional motor deficit	1917	EEF1A2	ORPHA:442835
HP:0004302	Functional motor deficit	2561	GABRB2	ORPHA:442835
HP:0004302	Functional motor deficit	2561	GABRB2	OMIM:617829
HP:0004302	Functional motor deficit	8831	SYNGAP1	ORPHA:442835
HP:0004302	Functional motor deficit	7532	YWHAG	ORPHA:442835
HP:0004302	Functional motor deficit	79876	UBA5	ORPHA:442835
HP:0004302	Functional motor deficit	6328	SCN3A	ORPHA:442835
HP:0004302	Functional motor deficit	2558	GABRA5	ORPHA:442835
HP:0004302	Functional motor deficit	781	CACNA2D1	ORPHA:442835
HP:0004302	Functional motor deficit	2906	GRIN2D	ORPHA:442835
HP:0004302	Functional motor deficit	116150	NUS1	ORPHA:442835
HP:0004302	Functional motor deficit	10659	CELF2	ORPHA:442835
HP:0004302	Functional motor deficit	774	CACNA1B	ORPHA:442835
HP:0004302	Functional motor deficit	1213	CLTC	ORPHA:442835
HP:0004302	Functional motor deficit	51741	WWOX	ORPHA:442835
HP:0004302	Functional motor deficit	23334	SZT2	ORPHA:442835
HP:0004302	Functional motor deficit	51412	ACTL6B	ORPHA:442835
HP:0004302	Functional motor deficit	348980	HCN1	ORPHA:442835
HP:0004302	Functional motor deficit	6506	SLC1A2	ORPHA:442835
HP:0004302	Functional motor deficit	8867	SYNJ1	ORPHA:442835
HP:0004302	Functional motor deficit	2258	FGF13	ORPHA:442835
HP:0004302	Functional motor deficit	477	ATP1A2	ORPHA:442835
HP:0004302	Functional motor deficit	3745	KCNB1	ORPHA:442835
HP:0004302	Functional motor deficit	284111	SLC13A5	ORPHA:442835
HP:0004302	Functional motor deficit	25977	NECAP1	ORPHA:442835
HP:0004302	Functional motor deficit	16	AARS1	ORPHA:442835
HP:0004302	Functional motor deficit	16	AARS1	OMIM:619661
HP:0004302	Functional motor deficit	6334	SCN8A	ORPHA:442835
HP:0004302	Functional motor deficit	22866	CNKSR2	ORPHA:442835
HP:0004302	Functional motor deficit	9568	GABBR2	ORPHA:442835
HP:0004302	Functional motor deficit	2555	GABRA2	ORPHA:442835
HP:0004302	Functional motor deficit	55152	DALRD3	ORPHA:442835
HP:0004302	Functional motor deficit	773	CACNA1A	ORPHA:442835
HP:0004302	Functional motor deficit	26999	CYFIP2	ORPHA:442835
HP:0004302	Functional motor deficit	4915	NTRK2	ORPHA:442835
HP:0004302	Functional motor deficit	25973	PARS2	ORPHA:442835
HP:0004302	Functional motor deficit	23097	CDK19	ORPHA:442835
HP:0004302	Functional motor deficit	64801	ARV1	ORPHA:442835
HP:0004302	Functional motor deficit	79947	DHDDS	ORPHA:442835
HP:0004302	Functional motor deficit	2257	FGF12	ORPHA:442835
HP:0004302	Functional motor deficit	5530	PPP3CA	ORPHA:442835
HP:0004302	Functional motor deficit	478	ATP1A3	ORPHA:442835
HP:0004302	Functional motor deficit	79152	FA2H	OMIM:612319
HP:0004302	Functional motor deficit	79152	FA2H	ORPHA:171629
HP:0004302	Functional motor deficit	10528	NOP56	ORPHA:276198
HP:0004302	Functional motor deficit	4359	MPZ	ORPHA:3115
HP:0004302	Functional motor deficit	3752	KCND3	ORPHA:98772
HP:0004302	Functional motor deficit	23299	BICD2	ORPHA:363454
HP:0004302	Functional motor deficit	10585	POMT1	OMIM:609308
HP:0004302	Functional motor deficit	10585	POMT1	ORPHA:370980
HP:0004302	Functional motor deficit	10585	POMT1	ORPHA:86812
HP:0004302	Functional motor deficit	84138	SLC7A6OS	OMIM:619191
HP:0004302	Functional motor deficit	142680	SLC34A3	OMIM:241530
HP:0004302	Functional motor deficit	84504	NKX6-2	ORPHA:527497
HP:0004302	Functional motor deficit	203859	ANO5	ORPHA:399096
HP:0004302	Functional motor deficit	55773	TBC1D23	OMIM:617695
HP:0004302	Functional motor deficit	8239	USP9X	ORPHA:480880
HP:0004302	Functional motor deficit	540	ATP7B	ORPHA:905
HP:0004302	Functional motor deficit	8314	BAP1	ORPHA:2495
HP:0004302	Functional motor deficit	4771	NF2	ORPHA:2495
HP:0004302	Functional motor deficit	6598	SMARCB1	ORPHA:2495
HP:0004302	Functional motor deficit	5155	PDGFB	ORPHA:2495
HP:0004302	Functional motor deficit	84231	TRAF7	ORPHA:2495
HP:0004302	Functional motor deficit	6608	SMO	ORPHA:2495
HP:0004302	Functional motor deficit	207	AKT1	ORPHA:2495
HP:0004302	Functional motor deficit	5290	PIK3CA	ORPHA:2495
HP:0004302	Functional motor deficit	7015	TERT	ORPHA:2495
HP:0004302	Functional motor deficit	51684	SUFU	ORPHA:2495
HP:0004302	Functional motor deficit	6605	SMARCE1	ORPHA:2495
HP:0004302	Functional motor deficit	146057	TTBK2	ORPHA:98767
HP:0004302	Functional motor deficit	3748	KCNC3	ORPHA:98768
HP:0004302	Functional motor deficit	2259	FGF14	ORPHA:98764
HP:0004302	Functional motor deficit	10613	ERLIN1	ORPHA:401785
HP:0004302	Functional motor deficit	10613	ERLIN1	OMIM:615681
HP:0004302	Functional motor deficit	3766	KCNJ10	ORPHA:199343
HP:0004302	Functional motor deficit	2521	FUS	ORPHA:300605
HP:0004302	Functional motor deficit	80208	SPG11	ORPHA:300605
HP:0004302	Functional motor deficit	10280	SIGMAR1	ORPHA:300605
HP:0004302	Functional motor deficit	10558	SPTLC1	ORPHA:300605
HP:0004302	Functional motor deficit	57679	ALS2	ORPHA:300605
HP:0004302	Functional motor deficit	57679	ALS2	OMIM:205100
HP:0004302	Functional motor deficit	55958	KLHL9	ORPHA:399081
HP:0004302	Functional motor deficit	8733	GPAA1	ORPHA:529665
HP:0004302	Functional motor deficit	5165	PDK3	ORPHA:352675
HP:0004302	Functional motor deficit	400916	CHCHD10	OMIM:615048
HP:0004302	Functional motor deficit	11149	BVES	OMIM:616812
HP:0004302	Functional motor deficit	23175	LPIN1	ORPHA:99845
HP:0004302	Functional motor deficit	4512	MT-CO1	ORPHA:99845
HP:0004302	Functional motor deficit	4514	MT-CO3	ORPHA:99845
HP:0004302	Functional motor deficit	8565	YARS1	OMIM:608323
HP:0004302	Functional motor deficit	23204	ARL6IP1	ORPHA:401780
HP:0004302	Functional motor deficit	57104	PNPLA2	OMIM:610717
HP:0004302	Functional motor deficit	57104	PNPLA2	ORPHA:98908
HP:0004302	Functional motor deficit	427	ASAH1	ORPHA:2590
HP:0004302	Functional motor deficit	427	ASAH1	OMIM:159950
HP:0004302	Functional motor deficit	111	ADCY5	ORPHA:324588
HP:0004302	Functional motor deficit	339855	KY	OMIM:617114
HP:0004302	Functional motor deficit	10463	SLC30A9	OMIM:617595
HP:0004302	Functional motor deficit	7415	VCP	ORPHA:329478
HP:0004302	Functional motor deficit	7415	VCP	ORPHA:435387
HP:0004302	Functional motor deficit	7415	VCP	OMIM:613954
HP:0004302	Functional motor deficit	6572	SLC18A3	OMIM:617239
HP:0004302	Functional motor deficit	6572	SLC18A3	ORPHA:98914
HP:0004302	Functional motor deficit	84665	MYPN	ORPHA:171439
HP:0004302	Functional motor deficit	7169	TPM2	ORPHA:171439
HP:0004302	Functional motor deficit	7169	TPM2	OMIM:609285
HP:0004302	Functional motor deficit	390594	KBTBD13	ORPHA:171439
HP:0004302	Functional motor deficit	23479	ISCU	OMIM:255125
HP:0004302	Functional motor deficit	6843	VAMP1	ORPHA:251282
HP:0004302	Functional motor deficit	6843	VAMP1	ORPHA:98914
HP:0004302	Functional motor deficit	3098	HK1	ORPHA:99953
HP:0004302	Functional motor deficit	3098	HK1	OMIM:605285
HP:0004302	Functional motor deficit	79628	SH3TC2	OMIM:601596
HP:0004302	Functional motor deficit	79628	SH3TC2	ORPHA:99949
HP:0004302	Functional motor deficit	6253	RTN2	ORPHA:100993
HP:0004302	Functional motor deficit	51271	UBAP1	ORPHA:100993
HP:0004302	Functional motor deficit	2512	FTL	ORPHA:157846
HP:0004302	Functional motor deficit	4883	NPR3	OMIM:619543
HP:0004302	Functional motor deficit	26173	INTS1	OMIM:618571
HP:0004302	Functional motor deficit	57716	PRX	OMIM:614895
HP:0004302	Functional motor deficit	80199	FUZ	ORPHA:1136
HP:0004302	Functional motor deficit	2583	B4GALNT1	OMIM:609195
HP:0004302	Functional motor deficit	11232	POLG2	OMIM:619425
HP:0004302	Functional motor deficit	8291	DYSF	ORPHA:45448
HP:0004302	Functional motor deficit	9230	RAB11B	OMIM:617807
HP:0004302	Functional motor deficit	6443	SGCB	ORPHA:119
HP:0004302	Functional motor deficit	10535	RNASEH2A	ORPHA:51
HP:0004302	Functional motor deficit	84153	RNASEH2C	ORPHA:51
HP:0004302	Functional motor deficit	25939	SAMHD1	ORPHA:51
HP:0004302	Functional motor deficit	79621	RNASEH2B	ORPHA:51
HP:0004302	Functional motor deficit	103	ADAR	ORPHA:51
HP:0004302	Functional motor deficit	11277	TREX1	ORPHA:51
HP:0004302	Functional motor deficit	100147744	RNU7-1	ORPHA:51
HP:0004302	Functional motor deficit	134353	LSM11	ORPHA:51
HP:0004302	Functional motor deficit	64135	IFIH1	ORPHA:51
HP:0004302	Functional motor deficit	7080	NKX2-1	OMIM:610978
HP:0004302	Functional motor deficit	54808	DYM	ORPHA:239
HP:0004302	Functional motor deficit	8729	GBF1	OMIM:606483
HP:0004302	Functional motor deficit	23064	SETX	OMIM:602433
HP:0004302	Functional motor deficit	23111	SPART	OMIM:275900
HP:0004302	Functional motor deficit	4141	MARS1	OMIM:616280
HP:0004302	Functional motor deficit	10059	DNM1L	ORPHA:330050
HP:0004302	Functional motor deficit	4728	NDUFS8	OMIM:618222
HP:0004302	Functional motor deficit	9897	WASHC5	ORPHA:100989
HP:0004302	Functional motor deficit	126129	CPT1C	OMIM:616282
HP:0004302	Functional motor deficit	126129	CPT1C	ORPHA:444099
HP:0004302	Functional motor deficit	1410	CRYAB	ORPHA:399058
HP:0004302	Functional motor deficit	4508	MT-ATP6	ORPHA:320360
HP:0004302	Functional motor deficit	274	BIN1	ORPHA:169189
HP:0004302	Functional motor deficit	64419	MTMR14	ORPHA:169189
HP:0004302	Functional motor deficit	4618	MYF6	ORPHA:169189
HP:0004302	Functional motor deficit	1785	DNM2	ORPHA:169189
HP:0004302	Functional motor deficit	6261	RYR1	ORPHA:169189
HP:0004302	Functional motor deficit	59341	TRPV4	ORPHA:93314
HP:0004302	Functional motor deficit	4148	MATN3	ORPHA:93311
HP:0004302	Functional motor deficit	3208	HPCA	ORPHA:99657
HP:0004302	Functional motor deficit	2581	GALC	ORPHA:206443
HP:0004302	Functional motor deficit	84909	AOPEP	OMIM:619565
HP:0004302	Functional motor deficit	1436	CSF1R	OMIM:618476
HP:0004302	Functional motor deficit	518	ATP5MC3	OMIM:619681
HP:0004302	Functional motor deficit	6652	SORD	OMIM:618912
HP:0004302	Functional motor deficit	4204	MECP2	ORPHA:778
HP:0004302	Functional motor deficit	84679	SLC9A7	OMIM:301024
HP:0004302	Functional motor deficit	2895	GRID2	ORPHA:363432
HP:0004302	Functional motor deficit	65055	REEP1	ORPHA:101011
HP:0004302	Functional motor deficit	3315	HSPB1	OMIM:608634
HP:0004302	Functional motor deficit	8925	HERC1	ORPHA:457359
HP:0004302	Functional motor deficit	7084	TK2	ORPHA:254875
HP:0004302	Functional motor deficit	112939	NACC1	OMIM:617393
HP:0004302	Functional motor deficit	80224	NUBPL	OMIM:618242
HP:0004302	Functional motor deficit	29920	PYCR2	ORPHA:481152
HP:0004302	Functional motor deficit	1737	DLAT	ORPHA:79244
HP:0004302	Functional motor deficit	112812	FDX2	OMIM:251900
HP:0004302	Functional motor deficit	6792	CDKL5	ORPHA:505652
HP:0004302	Functional motor deficit	57599	WDR48	ORPHA:401800
HP:0004302	Functional motor deficit	51324	SPG21	ORPHA:101001
HP:0004302	Functional motor deficit	26175	LYSET	OMIM:619345
HP:0004302	Functional motor deficit	2705	GJB1	OMIM:302800
HP:0004302	Functional motor deficit	2992	GYG1	OMIM:616199
HP:0004302	Functional motor deficit	7421	VDR	OMIM:277440
HP:0004302	Functional motor deficit	7453	WARS1	OMIM:617721
HP:0004302	Functional motor deficit	57449	PLEKHG5	OMIM:611067
HP:0004302	Functional motor deficit	27010	TPK1	OMIM:614458
HP:0004302	Functional motor deficit	2218	FKTN	ORPHA:370980
HP:0004302	Functional motor deficit	729920	CRPPA	ORPHA:370980
HP:0004302	Functional motor deficit	1756	DMD	ORPHA:98895
HP:0004302	Functional motor deficit	10755	GIPC1	ORPHA:98897
HP:0004302	Functional motor deficit	100996717	NOTCH2NLC	ORPHA:98897
HP:0004302	Functional motor deficit	340075	ARSI	ORPHA:401815
HP:0004302	Functional motor deficit	26580	BSCL2	OMIM:619112
HP:0004302	Functional motor deficit	8988	HSPB3	OMIM:613376
HP:0004302	Functional motor deficit	2548	GAA	OMIM:232300
HP:0004302	Functional motor deficit	2318	FLNC	ORPHA:63273
HP:0004302	Functional motor deficit	6872	TAF1	ORPHA:53351
HP:0004302	Functional motor deficit	1605	DAG1	OMIM:613818
HP:0004302	Functional motor deficit	283446	MYO1H	OMIM:619482
HP:0004302	Functional motor deficit	80055	PGAP1	ORPHA:401820
HP:0004302	Functional motor deficit	5375	PMP2	OMIM:618279
HP:0004302	Functional motor deficit	92335	STRADA	OMIM:611087
HP:0004302	Functional motor deficit	4649	MYO9A	ORPHA:98914
HP:0004302	Functional motor deficit	1305	COL13A1	ORPHA:98914
HP:0004302	Functional motor deficit	1103	CHAT	ORPHA:98914
HP:0004302	Functional motor deficit	6576	SLC25A1	ORPHA:98914
HP:0004302	Functional motor deficit	375790	AGRN	ORPHA:98914
HP:0004302	Functional motor deficit	127833	SYT2	ORPHA:98914
HP:0004302	Functional motor deficit	57704	GBA2	ORPHA:320391
HP:0004302	Functional motor deficit	9499	MYOT	ORPHA:98911
HP:0004302	Functional motor deficit	3710	ITPR3	OMIM:620111
HP:0004302	Functional motor deficit	2799	GNS	OMIM:252940
HP:0004302	Functional motor deficit	2273	FHL1	OMIM:300280
HP:0004302	Functional motor deficit	1303	COL12A1	ORPHA:610
HP:0004302	Functional motor deficit	1291	COL6A1	ORPHA:610
HP:0004302	Functional motor deficit	1292	COL6A2	ORPHA:610
HP:0004302	Functional motor deficit	1293	COL6A3	ORPHA:610
HP:0004302	Functional motor deficit	1200	TPP1	ORPHA:284324
HP:0004302	Functional motor deficit	80347	COASY	ORPHA:397725
HP:0004302	Functional motor deficit	10717	AP4B1	ORPHA:280763
HP:0004302	Functional motor deficit	9179	AP4M1	ORPHA:280763
HP:0004302	Functional motor deficit	11154	AP4S1	ORPHA:280763
HP:0004302	Functional motor deficit	23431	AP4E1	ORPHA:280763
HP:0004302	Functional motor deficit	5317	PKP1	ORPHA:158668
HP:0004302	Functional motor deficit	51	ACOX1	OMIM:618960
HP:0004302	Functional motor deficit	210	ALAD	ORPHA:100924
HP:0004302	Functional motor deficit	89970	RSPRY1	ORPHA:457395
HP:0004302	Functional motor deficit	4038	LRP4	OMIM:616304
HP:0004302	Functional motor deficit	51099	ABHD5	ORPHA:98907
HP:0004302	Functional motor deficit	2733	GLE1	OMIM:611890
HP:0004302	Functional motor deficit	10273	STUB1	ORPHA:412057
HP:0004302	Functional motor deficit	81545	FBXO38	OMIM:615575
HP:0004302	Functional motor deficit	1674	DES	ORPHA:98909
HP:0004302	Functional motor deficit	60386	SLC25A19	OMIM:613710
HP:0004302	Functional motor deficit	8139	GAN	ORPHA:643
HP:0004302	Functional motor deficit	9451	EIF2AK3	ORPHA:1667
HP:0004302	Functional motor deficit	29954	POMT2	ORPHA:206559
HP:0004302	Functional motor deficit	4914	NTRK1	ORPHA:642
HP:0004302	Functional motor deficit	3839	KPNA3	ORPHA:171612
HP:0004302	Functional motor deficit	84706	GPT2	ORPHA:477673
HP:0004302	Functional motor deficit	9927	MFN2	OMIM:617087
HP:0004302	Functional motor deficit	1968	EIF2S3	OMIM:300148
HP:0004302	Functional motor deficit	4747	NEFL	OMIM:617882
HP:0004302	Functional motor deficit	125170	MIEF2	OMIM:619024
HP:0004302	Functional motor deficit	9570	GOSR2	OMIM:614018
HP:0004302	Functional motor deficit	10299	MARCHF6	OMIM:613608
HP:0004302	Functional motor deficit	60481	ELOVL5	ORPHA:423296
HP:0004302	Functional motor deficit	267010	RNU12	ORPHA:512260
HP:0004302	Functional motor deficit	10749	KIF1C	ORPHA:397946
HP:0004302	Functional motor deficit	10749	KIF1C	OMIM:611302
HP:0004302	Functional motor deficit	51062	ATL1	ORPHA:100984
HP:0004302	Functional motor deficit	6134	RPL10	OMIM:300998
HP:0004302	Functional motor deficit	3094	HINT1	ORPHA:324442
HP:0004302	Functional motor deficit	10159	ATP6AP2	ORPHA:93952
HP:0004302	Functional motor deficit	10397	NDRG1	OMIM:601455
HP:0004302	Functional motor deficit	55187	VPS13D	OMIM:607317
HP:0004302	Functional motor deficit	318	NUDT2	OMIM:619844
HP:0004302	Functional motor deficit	5189	PEX1	OMIM:214100
HP:0004302	Functional motor deficit	4694	NDUFA1	OMIM:301020
HP:0004302	Functional motor deficit	116228	COX20	OMIM:619054
HP:0004302	Functional motor deficit	64856	VWA1	OMIM:619216
HP:0004302	Functional motor deficit	54834	GDAP2	OMIM:618369
HP:0004302	Functional motor deficit	2629	GBA1	ORPHA:411602
HP:0004302	Functional motor deficit	23317	DNAJC13	ORPHA:411602
HP:0004302	Functional motor deficit	1981	EIF4G1	ORPHA:411602
HP:0004302	Functional motor deficit	55737	VPS35	ORPHA:411602
HP:0004302	Functional motor deficit	120892	LRRK2	ORPHA:411602
HP:0004302	Functional motor deficit	26058	GIGYF2	ORPHA:411602
HP:0004302	Functional motor deficit	6622	SNCA	ORPHA:411602
HP:0004302	Functional motor deficit	54332	GDAP1	ORPHA:101097
HP:0004302	Functional motor deficit	54332	GDAP1	ORPHA:99948
HP:0004302	Functional motor deficit	4361	MRE11	OMIM:604391
HP:0004302	Functional motor deficit	4361	MRE11	ORPHA:251347
HP:0004302	Functional motor deficit	55149	MTPAP	ORPHA:254343
HP:0004302	Functional motor deficit	55703	POLR3B	OMIM:619742
HP:0004302	Functional motor deficit	1600	DAB1	OMIM:615945
HP:0004302	Functional motor deficit	4137	MAPT	ORPHA:240103
HP:0004302	Functional motor deficit	9896	FIG4	OMIM:611228
HP:0004302	Functional motor deficit	27235	COQ2	ORPHA:98933
HP:0004302	Functional motor deficit	27235	COQ2	ORPHA:227510
HP:0004302	Functional motor deficit	56006	SMG9	OMIM:619995
HP:0004302	Functional motor deficit	10846	PDE10A	ORPHA:494526
HP:0004302	Functional motor deficit	10846	PDE10A	OMIM:616921
HP:0004302	Functional motor deficit	4744	NEFH	OMIM:616924
HP:0004302	Functional motor deficit	9990	SLC12A6	OMIM:620068
HP:0004302	Functional motor deficit	5621	PRNP	ORPHA:157941
HP:0004302	Functional motor deficit	2741	GLRA1	OMIM:149400
HP:0004302	Functional motor deficit	10243	GPHN	OMIM:149400
HP:0004302	Functional motor deficit	9409	PEX16	OMIM:614877
HP:0004302	Functional motor deficit	11261	CHP1	OMIM:618438
HP:0004302	Functional motor deficit	23636	NUP62	ORPHA:225154
HP:0004302	Functional motor deficit	80025	PANK2	ORPHA:216873
HP:0004302	Functional motor deficit	80025	PANK2	ORPHA:216866
HP:0004302	Functional motor deficit	84823	LMNB2	OMIM:616540
HP:0004302	Functional motor deficit	383	ARG1	OMIM:207800
HP:0004302	Functional motor deficit	23533	PIK3R5	OMIM:615217
HP:0004302	Functional motor deficit	1073	CFL2	OMIM:610687
HP:0004302	Functional motor deficit	9997	SCO2	ORPHA:521411
HP:0004302	Functional motor deficit	57410	SCYL1	ORPHA:466794
HP:0004302	Functional motor deficit	57410	SCYL1	OMIM:616719
HP:0004302	Functional motor deficit	124093	CCDC78	OMIM:614807
HP:0004302	Functional motor deficit	9181	ARHGEF2	OMIM:617523
HP:0004302	Functional motor deficit	8996	NOL3	OMIM:614937
HP:0004302	Functional motor deficit	4976	OPA1	OMIM:210000
HP:0004302	Functional motor deficit	291	SLC25A4	ORPHA:254892
HP:0004302	Functional motor deficit	291	SLC25A4	OMIM:615418
HP:0004302	Functional motor deficit	5428	POLG	ORPHA:254892
HP:0004302	Functional motor deficit	5428	POLG	ORPHA:298
HP:0004302	Functional motor deficit	56652	TWNK	ORPHA:254892
HP:0004302	Functional motor deficit	50484	RRM2B	ORPHA:254892
HP:0004302	Functional motor deficit	50484	RRM2B	ORPHA:298
HP:0004302	Functional motor deficit	5888	RAD51	ORPHA:238722
HP:0004302	Functional motor deficit	10126	DNAL4	ORPHA:238722
HP:0004302	Functional motor deficit	9423	NTN1	ORPHA:238722
HP:0004302	Functional motor deficit	1630	DCC	ORPHA:238722
HP:0004302	Functional motor deficit	3939	LDHA	ORPHA:284426
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:608931
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:616324
HP:0004302	Functional motor deficit	1145	CHRNE	ORPHA:98913
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:605809
HP:0004302	Functional motor deficit	1144	CHRND	OMIM:616322
HP:0004302	Functional motor deficit	1144	CHRND	OMIM:616321
HP:0004302	Functional motor deficit	1144	CHRND	ORPHA:98913
HP:0004302	Functional motor deficit	5913	RAPSN	OMIM:616326
HP:0004302	Functional motor deficit	5913	RAPSN	ORPHA:98913
HP:0004302	Functional motor deficit	4593	MUSK	OMIM:616325
HP:0004302	Functional motor deficit	4593	MUSK	ORPHA:98913
HP:0004302	Functional motor deficit	55280	CWF19L1	OMIM:616127
HP:0004302	Functional motor deficit	79912	PYROXD1	OMIM:617258
HP:0004302	Functional motor deficit	811	CALR	ORPHA:824
HP:0004302	Functional motor deficit	4352	MPL	ORPHA:824
HP:0004302	Functional motor deficit	3717	JAK2	ORPHA:824
HP:0004302	Functional motor deficit	54790	TET2	ORPHA:824
HP:0004302	Functional motor deficit	1134	CHRNA1	OMIM:608930
HP:0004302	Functional motor deficit	1134	CHRNA1	ORPHA:98913
HP:0004302	Functional motor deficit	92667	MGME1	ORPHA:352447
HP:0004302	Functional motor deficit	92667	MGME1	OMIM:615084
HP:0004302	Functional motor deficit	3190	HNRNPK	ORPHA:453504
HP:0004302	Functional motor deficit	3190	HNRNPK	ORPHA:352665
HP:0004302	Functional motor deficit	6329	SCN4A	OMIM:614198
HP:0004302	Functional motor deficit	6329	SCN4A	ORPHA:98913
HP:0004302	Functional motor deficit	4780	NFE2L2	OMIM:617744
HP:0004302	Functional motor deficit	4221	MEN1	ORPHA:2965
HP:0004302	Functional motor deficit	64072	CDH23	ORPHA:2965
HP:0004302	Functional motor deficit	64072	CDH23	ORPHA:91347
HP:0004302	Functional motor deficit	9049	AIP	ORPHA:2965
HP:0004302	Functional motor deficit	8292	COLQ	ORPHA:98915
HP:0004302	Functional motor deficit	8292	COLQ	OMIM:603034
HP:0004302	Functional motor deficit	3913	LAMB2	ORPHA:98915
HP:0004302	Functional motor deficit	5573	PRKAR1A	ORPHA:615
HP:0004302	Functional motor deficit	1140	CHRNB1	ORPHA:98913
HP:0004302	Functional motor deficit	1140	CHRNB1	OMIM:616313
HP:0004302	Functional motor deficit	221264	AK9	ORPHA:98913
HP:0004302	Functional motor deficit	285489	DOK7	ORPHA:98913
HP:0004302	Functional motor deficit	285489	DOK7	OMIM:254300
HP:0004302	Functional motor deficit	7234	TRU-TCA1-1	OMIM:620198
HP:0004302	Functional motor deficit	1890	TYMP	ORPHA:298
HP:0004302	Functional motor deficit	3980	LIG3	ORPHA:298
HP:0004302	Functional motor deficit	50515	CHST11	OMIM:618167
HP:0004302	Functional motor deficit	55033	FKBP14	ORPHA:300179
HP:0004302	Functional motor deficit	79572	ATP13A3	OMIM:265400
HP:0004302	Functional motor deficit	7040	TGFB1	OMIM:131300
HP:0004302	Functional motor deficit	6389	SDHA	ORPHA:3208
HP:0004302	Functional motor deficit	6390	SDHB	ORPHA:3208
HP:0004302	Functional motor deficit	6392	SDHD	ORPHA:3208
HP:0004302	Functional motor deficit	644096	SDHAF1	ORPHA:3208
HP:0004302	Functional motor deficit	5213	PFKM	OMIM:232800
HP:0004302	Functional motor deficit	51567	TDP2	OMIM:616949
HP:0004302	Functional motor deficit	55750	AGK	OMIM:212350
HP:0004302	Functional motor deficit	55863	TMEM126B	OMIM:618250
HP:0004302	Functional motor deficit	57190	SELENON	ORPHA:2020
HP:0004302	Functional motor deficit	4633	MYL2	ORPHA:2020
HP:0004302	Functional motor deficit	3679	ITGA7	ORPHA:2020
HP:0004302	Functional motor deficit	9200	HACD1	ORPHA:2020
HP:0004302	Functional motor deficit	51776	MAP3K20	ORPHA:2020
HP:0004302	Functional motor deficit	51776	MAP3K20	OMIM:617760
HP:0004302	Functional motor deficit	844	CASQ1	OMIM:616231
HP:0004302	Functional motor deficit	79731	NARS2	OMIM:616239
HP:0004302	Functional motor deficit	284439	SLC25A42	OMIM:618416
HP:0004302	Functional motor deficit	9531	BAG3	OMIM:612954
HP:0004302	Functional motor deficit	84705	GTPBP3	ORPHA:444013
HP:0004302	Functional motor deficit	6786	STIM1	OMIM:160565
HP:0004302	Functional motor deficit	6445	SGCG	ORPHA:353
HP:0004302	Functional motor deficit	10290	SPEG	ORPHA:169186
HP:0004302	Functional motor deficit	55791	LRIF1	OMIM:619477
HP:0004302	Functional motor deficit	203547	VMA21	OMIM:310440
HP:0004302	Functional motor deficit	3032	HADHB	ORPHA:746
HP:0004302	Functional motor deficit	3030	HADHA	ORPHA:746
HP:0004302	Functional motor deficit	6442	SGCA	ORPHA:62
HP:0004302	Functional motor deficit	10049	DNAJB6	OMIM:603511
HP:0004302	Functional motor deficit	10049	DNAJB6	ORPHA:34516
HP:0004302	Functional motor deficit	5339	PLEC	ORPHA:254361
HP:0004302	Functional motor deficit	5339	PLEC	OMIM:613723
HP:0004302	Functional motor deficit	84197	POMK	OMIM:616094
HP:0004302	Functional motor deficit	284403	WDR62	OMIM:604317
HP:0004302	Functional motor deficit	26092	TOR1AIP1	OMIM:617072
HP:0004302	Functional motor deficit	55624	POMGNT1	OMIM:613157
HP:0004302	Functional motor deficit	122622	ADSS1	ORPHA:482601
HP:0004302	Functional motor deficit	4556	MT-TE	ORPHA:2596
HP:0004302	Functional motor deficit	3991	LIPE	OMIM:615980
HP:0004302	Functional motor deficit	3908	LAMA2	OMIM:618138
HP:0004302	Functional motor deficit	23534	TNPO3	OMIM:608423
HP:0004302	Functional motor deficit	6611	SMS	ORPHA:3063
HP:0004302	Functional motor deficit	10342	TFG	ORPHA:431329
HP:0004302	Functional motor deficit	10342	TFG	ORPHA:90117
HP:0004302	Functional motor deficit	2055	CLN8	ORPHA:1947
HP:0004302	Functional motor deficit	492	ATP2B3	OMIM:302500
HP:0004302	Functional motor deficit	84188	FAR1	ORPHA:438178
HP:0004302	Functional motor deficit	6905	TBCE	ORPHA:496756
HP:0004302	Functional motor deficit	6833	ABCC8	OMIM:618857
HP:0004302	Functional motor deficit	57570	TRMT5	OMIM:616539
HP:0004302	Functional motor deficit	2903	GRIN2A	ORPHA:98818
HP:0004302	Functional motor deficit	85465	SELENOI	ORPHA:506353
HP:0004302	Functional motor deficit	6683	SPAST	ORPHA:100985
HP:0004302	Functional motor deficit	5551	PRF1	ORPHA:540
HP:0004302	Functional motor deficit	8676	STX11	ORPHA:540
HP:0004302	Functional motor deficit	201294	UNC13D	ORPHA:540
HP:0004302	Functional motor deficit	6813	STXBP2	ORPHA:540
HP:0004302	Functional motor deficit	22854	NTNG1	ORPHA:3095
HP:0004302	Functional motor deficit	8243	SMC1A	ORPHA:3095
HP:0004302	Functional motor deficit	56947	MFF	ORPHA:485421
HP:0004302	Functional motor deficit	2050	EPHB4	ORPHA:137667
HP:0004302	Functional motor deficit	5921	RASA1	ORPHA:137667
HP:0004302	Functional motor deficit	2475	MTOR	ORPHA:99802
HP:0004302	Functional motor deficit	10000	AKT3	ORPHA:99802
HP:0004302	Functional motor deficit	443	ASPA	ORPHA:314911
HP:0004302	Functional motor deficit	440193	CCDC88C	ORPHA:423275
HP:0004302	Functional motor deficit	7337	UBE3A	ORPHA:98794
HP:0004302	Functional motor deficit	4948	OCA2	ORPHA:98794
HP:0004302	Functional motor deficit	2911	GRM1	ORPHA:324262
HP:0004302	Functional motor deficit	79184	BRCC3	ORPHA:280679
HP:0004302	Functional motor deficit	54539	NDUFB11	ORPHA:2556
HP:0004302	Functional motor deficit	1349	COX7B	ORPHA:2556
HP:0004302	Functional motor deficit	3052	HCCS	ORPHA:2556
HP:0004302	Functional motor deficit	2131	EXT1	ORPHA:321
HP:0004302	Functional motor deficit	2132	EXT2	ORPHA:321
HP:0004302	Functional motor deficit	80704	SLC19A3	ORPHA:263410
HP:0004302	Functional motor deficit	23230	VPS13A	ORPHA:2388
HP:0004302	Functional motor deficit	57338	JPH3	ORPHA:98934
HP:0004302	Functional motor deficit	4001	LMNB1	ORPHA:99027
HP:0004302	Functional motor deficit	7187	TRAF3	ORPHA:1930
HP:0004302	Functional motor deficit	81622	UNC93B1	ORPHA:1930
HP:0004302	Functional motor deficit	148022	TICAM1	ORPHA:1930
HP:0004302	Functional motor deficit	7098	TLR3	ORPHA:1930
HP:0004302	Functional motor deficit	29110	TBK1	ORPHA:1930
HP:0004302	Functional motor deficit	1778	DYNC1H1	OMIM:158600
HP:0004302	Functional motor deficit	1778	DYNC1H1	OMIM:614228
HP:0004302	Functional motor deficit	5828	PEX2	OMIM:614867
HP:0004302	Functional motor deficit	84466	MEGF10	OMIM:614399
HP:0004302	Functional motor deficit	487	ATP2A1	OMIM:601003
HP:0004302	Functional motor deficit	119559	SFXN4	OMIM:615578
HP:0004302	Functional motor deficit	64208	POPDC3	OMIM:618848
HP:0010548	Percussion myotonia	284119	CAVIN1	OMIM:613327
HP:0010548	Percussion myotonia	859	CAV3	OMIM:606072
HP:0010548	Percussion myotonia	859	CAV3	ORPHA:488650
HP:0010548	Percussion myotonia	3094	HINT1	ORPHA:324442
HP:0010548	Percussion myotonia	6329	SCN4A	ORPHA:684
HP:0010548	Percussion myotonia	6329	SCN4A	OMIM:168300
HP:0010548	Percussion myotonia	6329	SCN4A	OMIM:608390
HP:0010548	Percussion myotonia	487	ATP2A1	OMIM:601003
HP:0010548	Percussion myotonia	6840	SVIL	OMIM:619040
HP:0010548	Percussion myotonia	10049	DNAJB6	ORPHA:34516
HP:0010548	Percussion myotonia	3339	HSPG2	OMIM:255800
HP:0010548	Percussion myotonia	1180	CLCN1	OMIM:160800
HP:0010548	Percussion myotonia	1180	CLCN1	OMIM:255700
HP:0004305	Involuntary movements	4594	MMUT	ORPHA:289916
HP:0004305	Involuntary movements	4594	MMUT	ORPHA:79312
HP:0004305	Involuntary movements	26235	FBXL4	OMIM:615471
HP:0004305	Involuntary movements	1119	CHKA	OMIM:620023
HP:0004305	Involuntary movements	170302	ARX	OMIM:308350
HP:0004305	Involuntary movements	170302	ARX	ORPHA:1934
HP:0004305	Involuntary movements	81570	CLPB	ORPHA:445038
HP:0004305	Involuntary movements	81570	CLPB	OMIM:616271
HP:0004305	Involuntary movements	57165	GJC2	OMIM:608804
HP:0004305	Involuntary movements	65993	MRPS34	OMIM:617664
HP:0004305	Involuntary movements	80207	OPA3	ORPHA:67047
HP:0004305	Involuntary movements	125988	MICOS13	ORPHA:67047
HP:0004305	Involuntary movements	5160	PDHA1	OMIM:312170
HP:0004305	Involuntary movements	472	ATM	OMIM:208900
HP:0004305	Involuntary movements	79133	NDUFAF5	OMIM:618238
HP:0004305	Involuntary movements	84520	GON7	OMIM:619603
HP:0004305	Involuntary movements	1644	DDC	OMIM:608643
HP:0004305	Involuntary movements	3736	KCNA1	ORPHA:37612
HP:0004305	Involuntary movements	3736	KCNA1	ORPHA:1934
HP:0004305	Involuntary movements	8869	ST3GAL5	OMIM:609056
HP:0004305	Involuntary movements	87178	PNPT1	ORPHA:319514
HP:0004305	Involuntary movements	87178	PNPT1	OMIM:614932
HP:0004305	Involuntary movements	4694	NDUFA1	OMIM:301020
HP:0004305	Involuntary movements	55250	ELP2	OMIM:617270
HP:0004305	Involuntary movements	4704	NDUFA9	OMIM:618247
HP:0004305	Involuntary movements	116228	COX20	OMIM:619054
HP:0004305	Involuntary movements	23732	FRRS1L	OMIM:616981
HP:0004305	Involuntary movements	64207	IRF2BPL	OMIM:618088
HP:0004305	Involuntary movements	3054	HCFC1	OMIM:309541
HP:0004305	Involuntary movements	51079	NDUFA13	OMIM:618249
HP:0004305	Involuntary movements	7920	ABHD16A	OMIM:619735
HP:0004305	Involuntary movements	2074	ERCC6	OMIM:278800
HP:0004305	Involuntary movements	7080	NKX2-1	ORPHA:209905
HP:0004305	Involuntary movements	7080	NKX2-1	OMIM:610978
HP:0004305	Involuntary movements	4361	MRE11	OMIM:604391
HP:0004305	Involuntary movements	6821	SUOX	OMIM:272300
HP:0004305	Involuntary movements	5805	PTS	ORPHA:13
HP:0004305	Involuntary movements	5805	PTS	OMIM:261640
HP:0004305	Involuntary movements	10715	CERS1	OMIM:616230
HP:0004305	Involuntary movements	774	CACNA1B	OMIM:618497
HP:0004305	Involuntary movements	8802	SUCLG1	ORPHA:17
HP:0004305	Involuntary movements	284439	SLC25A42	OMIM:618416
HP:0004305	Involuntary movements	10382	TUBB4A	OMIM:612438
HP:0004305	Involuntary movements	6697	SPR	OMIM:612716
HP:0004305	Involuntary movements	3028	HSD17B10	ORPHA:391428
HP:0004305	Involuntary movements	3028	HSD17B10	OMIM:300438
HP:0004305	Involuntary movements	2512	FTL	OMIM:606159
HP:0004305	Involuntary movements	10367	MICU1	OMIM:615673
HP:0004305	Involuntary movements	6812	STXBP1	OMIM:612164
HP:0004305	Involuntary movements	23533	PIK3R5	ORPHA:64753
HP:0004305	Involuntary movements	23064	SETX	ORPHA:64753
HP:0004305	Involuntary movements	92609	TIMM50	OMIM:617698
HP:0004305	Involuntary movements	2643	GCH1	OMIM:233910
HP:0004305	Involuntary movements	80036	TRPM3	OMIM:620224
HP:0004305	Involuntary movements	80067	DCAF17	ORPHA:3464
HP:0004305	Involuntary movements	80067	DCAF17	OMIM:241080
HP:0004305	Involuntary movements	80025	PANK2	OMIM:234200
HP:0004305	Involuntary movements	7507	XPA	OMIM:278700
HP:0004305	Involuntary movements	1737	DLAT	OMIM:245348
HP:0004305	Involuntary movements	3251	HPRT1	OMIM:300322
HP:0004305	Involuntary movements	60558	GUF1	OMIM:617065
HP:0004305	Involuntary movements	283989	TSEN54	ORPHA:2524
HP:0004305	Involuntary movements	116461	TSEN15	ORPHA:2524
HP:0004305	Involuntary movements	79042	TSEN34	ORPHA:2524
HP:0004305	Involuntary movements	80746	TSEN2	ORPHA:2524
HP:0004305	Involuntary movements	51091	SEPSECS	ORPHA:2524
HP:0004305	Involuntary movements	9213	XPR1	OMIM:616413
HP:0004305	Involuntary movements	54676	GTPBP2	OMIM:617988
HP:0004305	Involuntary movements	23556	PIGN	OMIM:614080
HP:0004305	Involuntary movements	4508	MT-ATP6	ORPHA:225154
HP:0004305	Involuntary movements	23636	NUP62	ORPHA:225154
HP:0004305	Involuntary movements	23636	NUP62	OMIM:271930
HP:0004305	Involuntary movements	103	ADAR	ORPHA:225154
HP:0004305	Involuntary movements	5354	PLP1	OMIM:312080
HP:0004305	Involuntary movements	7143	TNR	OMIM:619653
HP:0004305	Involuntary movements	10463	SLC30A9	OMIM:617595
HP:0004305	Involuntary movements	5455	POU3F3	OMIM:618604
HP:0004305	Involuntary movements	133686	NADK2	ORPHA:431361
HP:0004305	Involuntary movements	133686	NADK2	OMIM:616034
HP:0004305	Involuntary movements	23219	FBXO28	OMIM:619777
HP:0004305	Involuntary movements	9439	MED23	OMIM:614249
HP:0004305	Involuntary movements	256472	TMEM151A	OMIM:620245
HP:0004305	Involuntary movements	57731	SPTBN4	OMIM:617519
HP:0004305	Involuntary movements	2778	GNAS	ORPHA:79443
HP:0004305	Involuntary movements	2639	GCDH	OMIM:231670
HP:0004305	Involuntary movements	6567	SLC16A2	ORPHA:59
HP:0004305	Involuntary movements	5860	QDPR	OMIM:261630
HP:0004305	Involuntary movements	10533	ATG7	OMIM:619422
HP:0004305	Involuntary movements	3658	IREB2	OMIM:618451
HP:0004305	Involuntary movements	3329	HSPD1	OMIM:612233
HP:0004305	Involuntary movements	284111	SLC13A5	OMIM:615905
HP:0004305	Involuntary movements	8905	AP1S2	OMIM:304340
HP:0004305	Involuntary movements	9091	PIGQ	ORPHA:1934
HP:0004305	Involuntary movements	2775	GNAO1	ORPHA:1934
HP:0004305	Involuntary movements	81603	TRIM8	ORPHA:1934
HP:0004305	Involuntary movements	79751	SLC25A22	ORPHA:1934
HP:0004305	Involuntary movements	150094	SIK1	ORPHA:1934
HP:0004305	Involuntary movements	8573	CASK	ORPHA:1934
HP:0004305	Involuntary movements	23312	DMXL2	ORPHA:1934
HP:0004305	Involuntary movements	2917	GRM7	ORPHA:1934
HP:0004305	Involuntary movements	11284	PNKP	ORPHA:1934
HP:0004305	Involuntary movements	51227	PIGP	ORPHA:1934
HP:0004305	Involuntary movements	4761	NEUROD2	ORPHA:1934
HP:0004305	Involuntary movements	2068	ERCC2	OMIM:278730
HP:0004305	Involuntary movements	11340	EXOSC8	OMIM:616081
HP:0004305	Involuntary movements	11340	EXOSC8	ORPHA:2254
HP:0004305	Involuntary movements	23250	ATP11A	OMIM:619851
HP:0004305	Involuntary movements	4724	NDUFS4	OMIM:252010
HP:0004305	Involuntary movements	7317	UBA1	ORPHA:1145
HP:0004305	Involuntary movements	7317	UBA1	OMIM:301830
HP:0004305	Involuntary movements	64856	VWA1	OMIM:619216
HP:0004305	Involuntary movements	203190	LGI3	OMIM:620007
HP:0004305	Involuntary movements	23287	AGTPBP1	ORPHA:2254
HP:0004305	Involuntary movements	23287	AGTPBP1	OMIM:618276
HP:0004305	Involuntary movements	51010	EXOSC3	ORPHA:2254
HP:0004305	Involuntary movements	51010	EXOSC3	OMIM:614678
HP:0004305	Involuntary movements	8087	FXR1	OMIM:618822
HP:0004305	Involuntary movements	8087	FXR1	OMIM:618823
HP:0004305	Involuntary movements	79581	SLC52A2	OMIM:614707
HP:0004305	Involuntary movements	127833	SYT2	OMIM:619461
HP:0004305	Involuntary movements	51305	KCNK9	ORPHA:166108
HP:0004305	Involuntary movements	84466	MEGF10	OMIM:614399
HP:0004305	Involuntary movements	1959	EGR2	OMIM:145900
HP:0004305	Involuntary movements	57716	PRX	OMIM:145900
HP:0004305	Involuntary movements	5274	SERPINI1	OMIM:604218
HP:0004305	Involuntary movements	158	ADSL	OMIM:103050
HP:0004305	Involuntary movements	10617	STAMBP	OMIM:614261
HP:0004305	Involuntary movements	6309	SC5D	ORPHA:46059
HP:0004305	Involuntary movements	55624	POMGNT1	OMIM:253280
HP:0004305	Involuntary movements	10667	FARS2	OMIM:614946
HP:0004305	Involuntary movements	10667	FARS2	ORPHA:466722
HP:0004305	Involuntary movements	2731	GLDC	OMIM:605899
HP:0004305	Involuntary movements	275	AMT	OMIM:605899
HP:0004305	Involuntary movements	51218	GLRX5	ORPHA:401866
HP:0004305	Involuntary movements	51112	TRAPPC12	ORPHA:500144
HP:0004305	Involuntary movements	51112	TRAPPC12	OMIM:617669
HP:0004305	Involuntary movements	51506	UFC1	OMIM:618076
HP:0004305	Involuntary movements	1841	DTYMK	OMIM:619847
HP:0004305	Involuntary movements	54982	CLN6	OMIM:204300
HP:0004305	Involuntary movements	10501	SEMA6B	OMIM:618876
HP:0004305	Involuntary movements	55163	PNPO	ORPHA:79096
HP:0004305	Involuntary movements	55163	PNPO	OMIM:610090
HP:0004305	Involuntary movements	5290	PIK3CA	ORPHA:99802
HP:0004305	Involuntary movements	2475	MTOR	ORPHA:99802
HP:0004305	Involuntary movements	10000	AKT3	ORPHA:99802
HP:0004305	Involuntary movements	79693	YRDC	OMIM:619609
HP:0004305	Involuntary movements	7259	TSPYL1	ORPHA:168593
HP:0004305	Involuntary movements	348	APOE	OMIM:607822
HP:0004305	Involuntary movements	84992	PIGY	ORPHA:247262
HP:0004305	Involuntary movements	84720	PIGO	ORPHA:247262
HP:0004305	Involuntary movements	93210	PGAP3	ORPHA:247262
HP:0004305	Involuntary movements	284098	PIGW	ORPHA:247262
HP:0004305	Involuntary movements	27315	PGAP2	ORPHA:247262
HP:0004305	Involuntary movements	9487	PIGL	ORPHA:247262
HP:0004305	Involuntary movements	535	ATP6V0A1	OMIM:619971
HP:0004305	Involuntary movements	2892	GRIA3	OMIM:300699
HP:0004305	Involuntary movements	2892	GRIA3	ORPHA:364028
HP:0004305	Involuntary movements	100131801	PET100	OMIM:619055
HP:0004305	Involuntary movements	3899	AFF3	OMIM:619297
HP:0004305	Involuntary movements	55037	PTCD3	OMIM:619057
HP:0004305	Involuntary movements	54675	CRLS1	OMIM:620167
HP:0004305	Involuntary movements	55149	MTPAP	ORPHA:254343
HP:0004305	Involuntary movements	1327	COX4I1	OMIM:619060
HP:0004305	Involuntary movements	5602	MAPK10	ORPHA:2382
HP:0004305	Involuntary movements	4558	MT-TF	OMIM:545000
HP:0004305	Involuntary movements	4558	MT-TF	ORPHA:550
HP:0004305	Involuntary movements	4571	MT-TP	OMIM:545000
HP:0004305	Involuntary movements	4565	MT-TI	OMIM:545000
HP:0004305	Involuntary movements	4697	NDUFA4	OMIM:619065
HP:0004305	Involuntary movements	2903	GRIN2A	ORPHA:289266
HP:0004305	Involuntary movements	388962	BOLA3	OMIM:614299
HP:0004305	Involuntary movements	1201	CLN3	OMIM:204200
HP:0004305	Involuntary movements	84342	COG8	ORPHA:95428
HP:0004305	Involuntary movements	84138	SLC7A6OS	OMIM:619191
HP:0004305	Involuntary movements	8021	NUP214	OMIM:618426
HP:0004305	Involuntary movements	2720	GLB1	OMIM:230650
HP:0004305	Involuntary movements	221692	PHACTR1	ORPHA:3451
HP:0004305	Involuntary movements	6487	ST3GAL3	ORPHA:3451
HP:0004305	Involuntary movements	10695	CNPY3	ORPHA:3451
HP:0004305	Involuntary movements	23236	PLCB1	ORPHA:3451
HP:0004305	Involuntary movements	6709	SPTAN1	ORPHA:3451
HP:0004305	Involuntary movements	5277	PIGA	ORPHA:3451
HP:0004305	Involuntary movements	5277	PIGA	OMIM:301072
HP:0004305	Involuntary movements	3662	IRF4	ORPHA:3452
HP:0004305	Involuntary movements	55275	VPS53	OMIM:615851
HP:0004305	Involuntary movements	5664	PSEN2	ORPHA:1020
HP:0004305	Involuntary movements	10452	TOMM40	ORPHA:1020
HP:0004305	Involuntary movements	351	APP	ORPHA:1020
HP:0004305	Involuntary movements	351	APP	ORPHA:324708
HP:0004305	Involuntary movements	10347	ABCA7	ORPHA:1020
HP:0004305	Involuntary movements	6653	SORL1	ORPHA:1020
HP:0004305	Involuntary movements	3752	KCND3	OMIM:607346
HP:0004305	Involuntary movements	85440	DOCK7	OMIM:615859
HP:0004305	Involuntary movements	85440	DOCK7	ORPHA:411986
HP:0004305	Involuntary movements	84978	FRMD5	OMIM:620094
HP:0004305	Involuntary movements	2055	CLN8	OMIM:600143
HP:0004305	Involuntary movements	27247	NFU1	OMIM:605711
HP:0004305	Involuntary movements	80331	DNAJC5	OMIM:162350
HP:0004305	Involuntary movements	3980	LIG3	OMIM:619780
HP:0004305	Involuntary movements	5813	PURA	OMIM:616158
HP:0004305	Involuntary movements	5813	PURA	ORPHA:314655
HP:0004305	Involuntary movements	3155	HMGCL	ORPHA:20
HP:0004305	Involuntary movements	3155	HMGCL	OMIM:246450
HP:0004305	Involuntary movements	4572	MT-TQ	ORPHA:550
HP:0004305	Involuntary movements	4512	MT-CO1	ORPHA:550
HP:0004305	Involuntary movements	4513	MT-CO2	ORPHA:550
HP:0004305	Involuntary movements	4514	MT-CO3	ORPHA:550
HP:0004305	Involuntary movements	4574	MT-TS1	ORPHA:550
HP:0004305	Involuntary movements	4575	MT-TS2	ORPHA:550
HP:0004305	Involuntary movements	4564	MT-TH	ORPHA:550
HP:0004305	Involuntary movements	4723	NDUFV1	OMIM:618225
HP:0004305	Involuntary movements	9256	TSPOAP1	ORPHA:101150
HP:0004305	Involuntary movements	23114	NFASC	OMIM:618356
HP:0004305	Involuntary movements	2782	GNB1	OMIM:616973
HP:0004305	Involuntary movements	29968	PSAT1	OMIM:610992
HP:0004305	Involuntary movements	29968	PSAT1	ORPHA:284417
HP:0004305	Involuntary movements	91869	RFT1	OMIM:612015
HP:0004305	Involuntary movements	3192	HNRNPU	OMIM:617391
HP:0004305	Involuntary movements	3119	HLA-DQB1	OMIM:123400
HP:0004305	Involuntary movements	8604	SLC25A12	OMIM:612949
HP:0004305	Involuntary movements	51300	TIMMDC1	OMIM:618251
HP:0004305	Involuntary movements	6611	SMS	ORPHA:3063
HP:0004305	Involuntary movements	11212	PLPBP	OMIM:617290
HP:0004305	Involuntary movements	11019	LIAS	OMIM:614462
HP:0004305	Involuntary movements	56978	PRDM8	OMIM:616640
HP:0004305	Involuntary movements	56978	PRDM8	ORPHA:324290
HP:0004305	Involuntary movements	378884	NHLRC1	ORPHA:501
HP:0004305	Involuntary movements	378884	NHLRC1	OMIM:254780
HP:0004305	Involuntary movements	7957	EPM2A	ORPHA:501
HP:0004305	Involuntary movements	7957	EPM2A	OMIM:254780
HP:0004305	Involuntary movements	526	ATP6V1B2	ORPHA:79500
HP:0004305	Involuntary movements	151	ADRA2B	ORPHA:86814
HP:0004305	Involuntary movements	1501	CTNND2	ORPHA:86814
HP:0004305	Involuntary movements	374354	NHLRC2	OMIM:618278
HP:0004305	Involuntary movements	9326	ZNHIT3	OMIM:260565
HP:0004305	Involuntary movements	55145	THAP1	OMIM:602629
HP:0004305	Involuntary movements	55704	CCDC88A	OMIM:617507
HP:0004305	Involuntary movements	60386	SLC25A19	OMIM:607196
HP:0004305	Involuntary movements	777	CACNA1E	OMIM:618285
HP:0004305	Involuntary movements	84823	LMNB2	OMIM:616540
HP:0004305	Involuntary movements	5538	PPT1	OMIM:256730
HP:0004305	Involuntary movements	4668	NAGA	OMIM:609241
HP:0004305	Involuntary movements	4668	NAGA	ORPHA:79279
HP:0004305	Involuntary movements	55005	RMND1	OMIM:614922
HP:0004305	Involuntary movements	79583	TMEM231	ORPHA:2752
HP:0004305	Involuntary movements	1468	SLC25A10	OMIM:618972
HP:0004305	Involuntary movements	9907	AP5Z1	ORPHA:306511
HP:0004305	Involuntary movements	26275	HIBCH	OMIM:250620
HP:0004305	Involuntary movements	401474	SAMD12	OMIM:601068
HP:0004305	Involuntary movements	7528	YY1	ORPHA:506358
HP:0004305	Involuntary movements	7528	YY1	OMIM:617557
HP:0004305	Involuntary movements	7528	YY1	ORPHA:97279
HP:0004305	Involuntary movements	8450	CUL4B	OMIM:300354
HP:0004305	Involuntary movements	8450	CUL4B	ORPHA:85293
HP:0004305	Involuntary movements	55703	POLR3B	OMIM:614381
HP:0004305	Involuntary movements	55703	POLR3B	OMIM:607694
HP:0004305	Involuntary movements	4860	PNP	OMIM:613179
HP:0004305	Involuntary movements	123263	MTFMT	OMIM:614947
HP:0004305	Involuntary movements	1161	ERCC8	ORPHA:90321
HP:0004305	Involuntary movements	1161	ERCC8	OMIM:216400
HP:0004305	Involuntary movements	2072	ERCC4	ORPHA:90321
HP:0004305	Involuntary movements	2072	ERCC4	OMIM:278760
HP:0004305	Involuntary movements	64324	NSD1	ORPHA:821
HP:0004305	Involuntary movements	29072	SETD2	ORPHA:821
HP:0004305	Involuntary movements	10297	APC2	ORPHA:821
HP:0004305	Involuntary movements	5631	PRPS1	ORPHA:99014
HP:0004305	Involuntary movements	8722	CTSF	OMIM:615362
HP:0004305	Involuntary movements	56997	COQ8A	ORPHA:139485
HP:0004305	Involuntary movements	56997	COQ8A	OMIM:612016
HP:0004305	Involuntary movements	23322	RPGRIP1L	ORPHA:220497
HP:0004305	Involuntary movements	23322	RPGRIP1L	ORPHA:1454
HP:0004305	Involuntary movements	4867	NPHP1	ORPHA:220497
HP:0004305	Involuntary movements	65062	TMEM237	ORPHA:220497
HP:0004305	Involuntary movements	65062	TMEM237	ORPHA:475
HP:0004305	Involuntary movements	101060691	NUTM2B-AS1	OMIM:618637
HP:0004305	Involuntary movements	55689	YEATS2	OMIM:615127
HP:0004305	Involuntary movements	54806	AHI1	ORPHA:220493
HP:0004305	Involuntary movements	54806	AHI1	ORPHA:475
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:220493
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:475
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:1454
HP:0004305	Involuntary movements	153241	CEP120	ORPHA:220493
HP:0004305	Involuntary movements	153241	CEP120	ORPHA:475
HP:0004305	Involuntary movements	54903	MKS1	ORPHA:220493
HP:0004305	Involuntary movements	54903	MKS1	ORPHA:475
HP:0004305	Involuntary movements	95681	CEP41	ORPHA:220493
HP:0004305	Involuntary movements	95681	CEP41	ORPHA:475
HP:0004305	Involuntary movements	23600	AMACR	ORPHA:79095
HP:0004305	Involuntary movements	23600	AMACR	OMIM:614307
HP:0004305	Involuntary movements	2911	GRM1	OMIM:614831
HP:0004305	Involuntary movements	4758	NEU1	ORPHA:812
HP:0004305	Involuntary movements	26580	BSCL2	OMIM:615924
HP:0004305	Involuntary movements	26580	BSCL2	ORPHA:363400
HP:0004305	Involuntary movements	23400	ATP13A2	ORPHA:314632
HP:0004305	Involuntary movements	23400	ATP13A2	OMIM:606693
HP:0004305	Involuntary movements	7054	TH	OMIM:605407
HP:0004305	Involuntary movements	60482	SLC5A7	OMIM:158580
HP:0004305	Involuntary movements	1600	DAB1	ORPHA:363710
HP:0004305	Involuntary movements	1600	DAB1	OMIM:615945
HP:0004305	Involuntary movements	55154	MSTO1	OMIM:617675
HP:0004305	Involuntary movements	55154	MSTO1	ORPHA:502423
HP:0004305	Involuntary movements	64834	ELOVL1	OMIM:618527
HP:0004305	Involuntary movements	9692	PRORP	OMIM:619737
HP:0004305	Involuntary movements	55157	DARS2	ORPHA:137898
HP:0004305	Involuntary movements	55157	DARS2	OMIM:611105
HP:0004305	Involuntary movements	5173	PDYN	OMIM:610245
HP:0004305	Involuntary movements	7428	VHL	ORPHA:276621
HP:0004305	Involuntary movements	7428	VHL	ORPHA:29072
HP:0004305	Involuntary movements	5979	RET	ORPHA:276621
HP:0004305	Involuntary movements	5979	RET	ORPHA:29072
HP:0004305	Involuntary movements	1788	DNMT3A	ORPHA:276621
HP:0004305	Involuntary movements	2034	EPAS1	ORPHA:276621
HP:0004305	Involuntary movements	6392	SDHD	ORPHA:276621
HP:0004305	Involuntary movements	6392	SDHD	ORPHA:29072
HP:0004305	Involuntary movements	6390	SDHB	ORPHA:276621
HP:0004305	Involuntary movements	6390	SDHB	ORPHA:29072
HP:0004305	Involuntary movements	29967	LRP12	OMIM:164310
HP:0004305	Involuntary movements	10157	AASS	ORPHA:3124
HP:0004305	Involuntary movements	10157	AASS	ORPHA:2203
HP:0004305	Involuntary movements	7276	TTR	OMIM:105210
HP:0004305	Involuntary movements	1130	LYST	ORPHA:167
HP:0004305	Involuntary movements	1130	LYST	OMIM:214500
HP:0004305	Involuntary movements	7274	TTPA	ORPHA:96
HP:0004305	Involuntary movements	7466	WFS1	OMIM:222300
HP:0004305	Involuntary movements	80856	LNPK	OMIM:618090
HP:0004305	Involuntary movements	54968	TMEM70	OMIM:614052
HP:0004305	Involuntary movements	23203	PMPCA	ORPHA:1170
HP:0004305	Involuntary movements	23203	PMPCA	OMIM:213200
HP:0004305	Involuntary movements	83636	C19orf12	OMIM:614298
HP:0004305	Involuntary movements	54832	VPS13C	ORPHA:2828
HP:0004305	Involuntary movements	11315	PARK7	ORPHA:2828
HP:0004305	Involuntary movements	27429	HTRA2	ORPHA:2828
HP:0004305	Involuntary movements	27429	HTRA2	OMIM:610297
HP:0004305	Involuntary movements	27429	HTRA2	OMIM:617248
HP:0004305	Involuntary movements	120892	LRRK2	ORPHA:2828
HP:0004305	Involuntary movements	6622	SNCA	ORPHA:2828
HP:0004305	Involuntary movements	5420	PODXL	ORPHA:2828
HP:0004305	Involuntary movements	65018	PINK1	ORPHA:2828
HP:0004305	Involuntary movements	8867	SYNJ1	ORPHA:2828
HP:0004305	Involuntary movements	8867	SYNJ1	ORPHA:442835
HP:0004305	Involuntary movements	8867	SYNJ1	OMIM:615530
HP:0004305	Involuntary movements	5071	PRKN	ORPHA:2828
HP:0004305	Involuntary movements	5071	PRKN	OMIM:600116
HP:0004305	Involuntary movements	3737	KCNA2	ORPHA:442835
HP:0004305	Involuntary movements	3737	KCNA2	OMIM:616366
HP:0004305	Involuntary movements	1759	DNM1	ORPHA:442835
HP:0004305	Involuntary movements	8120	AP3B2	ORPHA:442835
HP:0004305	Involuntary movements	523	ATP6V1A	ORPHA:442835
HP:0004305	Involuntary movements	10991	SLC38A3	ORPHA:442835
HP:0004305	Involuntary movements	51343	FZR1	ORPHA:442835
HP:0004305	Involuntary movements	22906	TRAK1	ORPHA:442835
HP:0004305	Involuntary movements	1917	EEF1A2	ORPHA:442835
HP:0004305	Involuntary movements	2561	GABRB2	ORPHA:442835
HP:0004305	Involuntary movements	8831	SYNGAP1	ORPHA:442835
HP:0004305	Involuntary movements	8831	SYNGAP1	ORPHA:1942
HP:0004305	Involuntary movements	8831	SYNGAP1	ORPHA:544254
HP:0004305	Involuntary movements	6328	SCN3A	ORPHA:442835
HP:0004305	Involuntary movements	2558	GABRA5	ORPHA:442835
HP:0004305	Involuntary movements	2906	GRIN2D	ORPHA:442835
HP:0004305	Involuntary movements	2906	GRIN2D	OMIM:617162
HP:0004305	Involuntary movements	116150	NUS1	ORPHA:442835
HP:0004305	Involuntary movements	116150	NUS1	OMIM:617831
HP:0004305	Involuntary movements	10659	CELF2	ORPHA:442835
HP:0004305	Involuntary movements	10659	CELF2	OMIM:619561
HP:0004305	Involuntary movements	1213	CLTC	ORPHA:442835
HP:0004305	Involuntary movements	51741	WWOX	ORPHA:442835
HP:0004305	Involuntary movements	23334	SZT2	ORPHA:442835
HP:0004305	Involuntary movements	51412	ACTL6B	ORPHA:442835
HP:0004305	Involuntary movements	348980	HCN1	ORPHA:442835
HP:0004305	Involuntary movements	348980	HCN1	ORPHA:36387
HP:0004305	Involuntary movements	6506	SLC1A2	ORPHA:442835
HP:0004305	Involuntary movements	3745	KCNB1	ORPHA:442835
HP:0004305	Involuntary movements	25977	NECAP1	ORPHA:442835
HP:0004305	Involuntary movements	22866	CNKSR2	ORPHA:442835
HP:0004305	Involuntary movements	55152	DALRD3	ORPHA:442835
HP:0004305	Involuntary movements	26999	CYFIP2	ORPHA:442835
HP:0004305	Involuntary movements	4915	NTRK2	ORPHA:442835
HP:0004305	Involuntary movements	25973	PARS2	ORPHA:442835
HP:0004305	Involuntary movements	23097	CDK19	ORPHA:442835
HP:0004305	Involuntary movements	64801	ARV1	ORPHA:442835
HP:0004305	Involuntary movements	79947	DHDDS	ORPHA:442835
HP:0004305	Involuntary movements	79947	DHDDS	OMIM:617836
HP:0004305	Involuntary movements	2257	FGF12	ORPHA:442835
HP:0004305	Involuntary movements	5530	PPP3CA	ORPHA:442835
HP:0004305	Involuntary movements	5230	PGK1	ORPHA:713
HP:0004305	Involuntary movements	112755	STX1B	ORPHA:36387
HP:0004305	Involuntary movements	84059	ADGRV1	ORPHA:36387
HP:0004305	Involuntary movements	5373	PMM2	OMIM:212065
HP:0004305	Involuntary movements	79600	TCTN1	ORPHA:475
HP:0004305	Involuntary movements	79848	CSPP1	ORPHA:475
HP:0004305	Involuntary movements	51684	SUFU	ORPHA:475
HP:0004305	Involuntary movements	91147	TMEM67	ORPHA:475
HP:0004305	Involuntary movements	91147	TMEM67	ORPHA:1454
HP:0004305	Involuntary movements	200894	ARL13B	ORPHA:475
HP:0004305	Involuntary movements	9731	CEP104	ORPHA:475
HP:0004305	Involuntary movements	219844	HYLS1	ORPHA:475
HP:0004305	Involuntary movements	23247	KATNIP	ORPHA:475
HP:0004305	Involuntary movements	219854	TMEM218	ORPHA:475
HP:0004305	Involuntary movements	9786	KIAA0586	ORPHA:475
HP:0004305	Involuntary movements	79867	TCTN2	ORPHA:475
HP:0004305	Involuntary movements	80776	B9D2	ORPHA:475
HP:0004305	Involuntary movements	10464	PIBF1	ORPHA:475
HP:0004305	Involuntary movements	80210	ARMC9	ORPHA:475
HP:0004305	Involuntary movements	23116	TOGARAM1	ORPHA:475
HP:0004305	Involuntary movements	25776	CBY1	ORPHA:475
HP:0004305	Involuntary movements	27077	B9D1	ORPHA:475
HP:0004305	Involuntary movements	403	ARL3	ORPHA:475
HP:0004305	Involuntary movements	339453	TMEM240	ORPHA:98773
HP:0004305	Involuntary movements	1798	DPAGT1	ORPHA:86309
HP:0004305	Involuntary movements	1798	DPAGT1	OMIM:608093
HP:0004305	Involuntary movements	9131	AIFM1	ORPHA:101078
HP:0004305	Involuntary movements	9131	AIFM1	ORPHA:83629
HP:0004305	Involuntary movements	1743	DLST	ORPHA:29072
HP:0004305	Involuntary movements	4191	MDH2	ORPHA:29072
HP:0004305	Involuntary movements	6389	SDHA	ORPHA:29072
HP:0004305	Involuntary movements	23095	KIF1B	ORPHA:29072
HP:0004305	Involuntary movements	2271	FH	ORPHA:29072
HP:0004305	Involuntary movements	8402	SLC25A11	ORPHA:29072
HP:0004305	Involuntary movements	54949	SDHAF2	ORPHA:29072
HP:0004305	Involuntary movements	55654	TMEM127	ORPHA:29072
HP:0004305	Involuntary movements	4763	NF1	ORPHA:29072
HP:0004305	Involuntary movements	6391	SDHC	ORPHA:29072
HP:0004305	Involuntary movements	4149	MAX	ORPHA:29072
HP:0004305	Involuntary movements	6804	STX1A	ORPHA:904
HP:0004305	Involuntary movements	7461	CLIP2	ORPHA:904
HP:0004305	Involuntary movements	84277	DNAJC30	ORPHA:904
HP:0004305	Involuntary movements	8468	FKBP6	ORPHA:904
HP:0004305	Involuntary movements	5982	RFC2	ORPHA:904
HP:0004305	Involuntary movements	2969	GTF2I	ORPHA:904
HP:0004305	Involuntary movements	3984	LIMK1	ORPHA:904
HP:0004305	Involuntary movements	9569	GTF2IRD1	ORPHA:904
HP:0004305	Involuntary movements	155382	VPS37D	ORPHA:904
HP:0004305	Involuntary movements	155368	METTL27	ORPHA:904
HP:0004305	Involuntary movements	114049	BUD23	ORPHA:904
HP:0004305	Involuntary movements	7458	EIF4H	ORPHA:904
HP:0004305	Involuntary movements	84163	GTF2IRD2	ORPHA:904
HP:0004305	Involuntary movements	9275	BCL7B	ORPHA:904
HP:0004305	Involuntary movements	26608	TBL2	ORPHA:904
HP:0004305	Involuntary movements	653361	NCF1	ORPHA:904
HP:0004305	Involuntary movements	135886	TMEM270	ORPHA:904
HP:0004305	Involuntary movements	51085	MLXIPL	ORPHA:904
HP:0004305	Involuntary movements	9031	BAZ1B	ORPHA:904
HP:0004305	Involuntary movements	2006	ELN	ORPHA:904
HP:0004305	Involuntary movements	2073	ERCC5	OMIM:278780
HP:0004305	Involuntary movements	60481	ELOVL5	OMIM:615957
HP:0004305	Involuntary movements	60481	ELOVL5	ORPHA:423296
HP:0004305	Involuntary movements	2705	GJB1	ORPHA:101075
HP:0004305	Involuntary movements	2705	GJB1	OMIM:302800
HP:0004305	Involuntary movements	100134444	KCNJ18	ORPHA:79102
HP:0004305	Involuntary movements	100134444	KCNJ18	OMIM:613239
HP:0004305	Involuntary movements	2556	GABRA3	ORPHA:79102
HP:0004305	Involuntary movements	779	CACNA1S	ORPHA:79102
HP:0004305	Involuntary movements	5582	PRKCG	ORPHA:98763
HP:0004305	Involuntary movements	2259	FGF14	ORPHA:98764
HP:0004305	Involuntary movements	166785	MMAA	OMIM:251100
HP:0004305	Involuntary movements	3208	HPCA	OMIM:224500
HP:0004305	Involuntary movements	3208	HPCA	ORPHA:99657
HP:0004305	Involuntary movements	4644	MYO5A	ORPHA:33445
HP:0004305	Involuntary movements	9533	POLR1C	OMIM:616494
HP:0004305	Involuntary movements	8733	GPAA1	ORPHA:529665
HP:0004305	Involuntary movements	8733	GPAA1	OMIM:617810
HP:0004305	Involuntary movements	5205	ATP8B1	ORPHA:69665
HP:0004305	Involuntary movements	8647	ABCB11	ORPHA:69665
HP:0004305	Involuntary movements	5244	ABCB4	ORPHA:69665
HP:0004305	Involuntary movements	9971	NR1H4	ORPHA:69665
HP:0004305	Involuntary movements	146227	BEAN1	ORPHA:217012
HP:0004305	Involuntary movements	540	ATP7B	OMIM:277900
HP:0004305	Involuntary movements	11152	WDR45	OMIM:300894
HP:0004305	Involuntary movements	11152	WDR45	ORPHA:329284
HP:0004305	Involuntary movements	5092	PCBD1	OMIM:264070
HP:0004305	Involuntary movements	5092	PCBD1	ORPHA:1578
HP:0004305	Involuntary movements	4677	NARS1	OMIM:619092
HP:0004305	Involuntary movements	8813	DPM1	OMIM:608799
HP:0004305	Involuntary movements	9147	NEMF	OMIM:619099
HP:0004305	Involuntary movements	388662	SLC6A17	OMIM:616269
HP:0004305	Involuntary movements	10165	SLC25A13	ORPHA:247585
HP:0004305	Involuntary movements	1384	CRAT	OMIM:617917
HP:0004305	Involuntary movements	81846	SBF2	ORPHA:99956
HP:0004305	Involuntary movements	85021	REPS1	OMIM:617916
HP:0004305	Involuntary movements	6843	VAMP1	ORPHA:251282
HP:0004305	Involuntary movements	340533	NEXMIF	ORPHA:1942
HP:0004305	Involuntary movements	1106	CHD2	ORPHA:1942
HP:0004305	Involuntary movements	84188	FAR1	ORPHA:447753
HP:0004305	Involuntary movements	4633	MYL2	OMIM:619424
HP:0004305	Involuntary movements	2702	GJA5	OMIM:612474
HP:0004305	Involuntary movements	2703	GJA8	OMIM:612474
HP:0004305	Involuntary movements	9445	ITM2B	OMIM:176500
HP:0004305	Involuntary movements	57410	SCYL1	OMIM:616719
HP:0004305	Involuntary movements	10535	RNASEH2A	ORPHA:51
HP:0004305	Involuntary movements	84153	RNASEH2C	ORPHA:51
HP:0004305	Involuntary movements	25939	SAMHD1	ORPHA:51
HP:0004305	Involuntary movements	79621	RNASEH2B	ORPHA:51
HP:0004305	Involuntary movements	11277	TREX1	ORPHA:51
HP:0004305	Involuntary movements	100147744	RNU7-1	ORPHA:51
HP:0004305	Involuntary movements	134353	LSM11	ORPHA:51
HP:0004305	Involuntary movements	64135	IFIH1	ORPHA:51
HP:0004305	Involuntary movements	4976	OPA1	OMIM:210000
HP:0004305	Involuntary movements	2260	FGFR1	ORPHA:478
HP:0004305	Involuntary movements	10371	SEMA3A	ORPHA:478
HP:0004305	Involuntary movements	81848	SPRY4	ORPHA:478
HP:0004305	Involuntary movements	23767	FLRT3	ORPHA:478
HP:0004305	Involuntary movements	128674	PROKR2	ORPHA:478
HP:0004305	Involuntary movements	79625	NDNF	ORPHA:478
HP:0004305	Involuntary movements	2253	FGF8	ORPHA:478
HP:0004305	Involuntary movements	389549	FEZF1	ORPHA:478
HP:0004305	Involuntary movements	1630	DCC	ORPHA:478
HP:0004305	Involuntary movements	3730	ANOS1	ORPHA:478
HP:0004305	Involuntary movements	54756	IL17RD	ORPHA:478
HP:0004305	Involuntary movements	6663	SOX10	ORPHA:478
HP:0004305	Involuntary movements	285025	CCDC141	ORPHA:478
HP:0004305	Involuntary movements	60675	PROK2	ORPHA:478
HP:0004305	Involuntary movements	55636	CHD7	ORPHA:478
HP:0004305	Involuntary movements	1848	DUSP6	ORPHA:478
HP:0004305	Involuntary movements	6870	TACR3	ORPHA:478
HP:0004305	Involuntary movements	55717	WDR11	ORPHA:478
HP:0004305	Involuntary movements	9394	HS6ST1	ORPHA:478
HP:0004305	Involuntary movements	8820	HESX1	ORPHA:478
HP:0004305	Involuntary movements	8822	FGF17	ORPHA:478
HP:0004305	Involuntary movements	1203	CLN5	ORPHA:228360
HP:0004305	Involuntary movements	291	SLC25A4	ORPHA:254892
HP:0004305	Involuntary movements	11232	POLG2	ORPHA:254892
HP:0004305	Involuntary movements	50484	RRM2B	ORPHA:254892
HP:0004305	Involuntary movements	353116	RILPL1	OMIM:619790
HP:0004305	Involuntary movements	6134	RPL10	OMIM:300998
HP:0004305	Involuntary movements	23013	SPEN	OMIM:619312
HP:0004305	Involuntary movements	30000	TNPO2	OMIM:619556
HP:0004305	Involuntary movements	54517	PUS7	OMIM:618342
HP:0004305	Involuntary movements	124997	WDR81	OMIM:610185
HP:0004305	Involuntary movements	7167	TPI1	OMIM:615512
HP:0004305	Involuntary movements	4311	MME	OMIM:617018
HP:0004305	Involuntary movements	6571	SLC18A2	ORPHA:352649
HP:0004305	Involuntary movements	6571	SLC18A2	OMIM:618049
HP:0004305	Involuntary movements	27235	COQ2	OMIM:146500
HP:0004305	Involuntary movements	27235	COQ2	OMIM:607426
HP:0004305	Involuntary movements	10102	TSFM	OMIM:610505
HP:0004305	Involuntary movements	10312	TCIRG1	ORPHA:667
HP:0004305	Involuntary movements	1186	CLCN7	ORPHA:667
HP:0004305	Involuntary movements	29887	SNX10	ORPHA:667
HP:0004305	Involuntary movements	8600	TNFSF11	ORPHA:667
HP:0004305	Involuntary movements	123606	NIPA1	OMIM:600363
HP:0004305	Involuntary movements	5575	PRKAR1B	OMIM:619680
HP:0004305	Involuntary movements	724066	ATXN8	OMIM:608768
HP:0004305	Involuntary movements	6315	ATXN8OS	OMIM:608768
HP:0004305	Involuntary movements	6315	ATXN8OS	OMIM:168600
HP:0004305	Involuntary movements	6900	CNTN2	OMIM:615400
HP:0004305	Involuntary movements	767	CA8	OMIM:613227
HP:0004305	Involuntary movements	11093	ADAMTS13	OMIM:274150
HP:0004305	Involuntary movements	5053	PAH	ORPHA:79254
HP:0004305	Involuntary movements	7337	UBE3A	ORPHA:98794
HP:0004305	Involuntary movements	4948	OCA2	ORPHA:98794
HP:0004305	Involuntary movements	1491	CTH	ORPHA:212
HP:0004305	Involuntary movements	51132	RLIM	OMIM:300978
HP:0004305	Involuntary movements	727676	SNORD118	OMIM:614561
HP:0004305	Involuntary movements	727676	SNORD118	ORPHA:542310
HP:0004305	Involuntary movements	3746	KCNC1	OMIM:616187
HP:0004305	Involuntary movements	55737	VPS35	OMIM:614203
HP:0004305	Involuntary movements	8622	PDE8B	OMIM:609161
HP:0004305	Involuntary movements	91137	SLC25A46	OMIM:616505
HP:0004305	Involuntary movements	6898	TAT	ORPHA:28378
HP:0004305	Involuntary movements	3172	HNF4A	ORPHA:263455
HP:0004305	Involuntary movements	8091	HMGA2	ORPHA:94063
HP:0004305	Involuntary movements	23592	LEMD3	ORPHA:94063
HP:0004305	Involuntary movements	55630	SLC39A4	OMIM:201100
HP:0004305	Involuntary movements	9757	KMT2B	OMIM:617284
HP:0004305	Involuntary movements	9758	FRMPD4	OMIM:300983
HP:0004305	Involuntary movements	64072	CDH23	ORPHA:91347
HP:0004305	Involuntary movements	57545	CC2D2A	ORPHA:1454
HP:0004305	Involuntary movements	6304	SATB1	OMIM:619229
HP:0004305	Involuntary movements	57187	THOC2	ORPHA:457240
HP:0004305	Involuntary movements	57187	THOC2	OMIM:300957
HP:0004305	Involuntary movements	7138	TNNT1	OMIM:605355
HP:0004305	Involuntary movements	7138	TNNT1	ORPHA:98902
HP:0004305	Involuntary movements	54658	UGT1A1	ORPHA:79234
HP:0004305	Involuntary movements	84065	TMEM222	OMIM:619470
HP:0004305	Involuntary movements	79784	MYH14	ORPHA:397744
HP:0004305	Involuntary movements	79784	MYH14	OMIM:614369
HP:0004305	Involuntary movements	65260	COA7	OMIM:618387
HP:0004305	Involuntary movements	9927	MFN2	OMIM:609260
HP:0004305	Involuntary movements	4221	MEN1	ORPHA:97279
HP:0004305	Involuntary movements	56910	STARD7	OMIM:607876
HP:0004305	Involuntary movements	7204	TRIO	OMIM:617061
HP:0004305	Involuntary movements	7204	TRIO	ORPHA:476126
HP:0004305	Involuntary movements	128240	NAXE	OMIM:617186
HP:0004305	Involuntary movements	4841	NONO	OMIM:300967
HP:0004305	Involuntary movements	6182	MRPL12	OMIM:618951
HP:0004305	Involuntary movements	4780	NFE2L2	OMIM:617744
HP:0004305	Involuntary movements	57570	TRMT5	OMIM:616539
HP:0004305	Involuntary movements	84628	NTNG2	OMIM:618718
HP:0004305	Involuntary movements	1650	DDOST	ORPHA:300536
HP:0004305	Involuntary movements	1493	CTLA4	ORPHA:3162
HP:0004305	Involuntary movements	940	CD28	ORPHA:3162
HP:0004305	Involuntary movements	7133	TNFRSF1B	ORPHA:3162
HP:0004305	Involuntary movements	119559	SFXN4	OMIM:615578
HP:0004305	Involuntary movements	8481	OFD1	ORPHA:2750
HP:0004305	Involuntary movements	8481	OFD1	ORPHA:2754
HP:0004305	Involuntary movements	55074	OXR1	OMIM:213000
HP:0004305	Involuntary movements	10210	TOPORS	ORPHA:2754
HP:0004305	Involuntary movements	9851	KIAA0753	ORPHA:2754
HP:0004305	Involuntary movements	26123	TCTN3	ORPHA:2754
HP:0004305	Involuntary movements	5147	PDE6D	ORPHA:2754
HP:0004305	Involuntary movements	51259	TMEM216	ORPHA:2754
HP:0004305	Involuntary movements	317662	FAM149B1	ORPHA:2754
HP:0004305	Involuntary movements	374654	KIF7	ORPHA:2754
HP:0004305	Involuntary movements	84706	GPT2	ORPHA:477673
HP:0004305	Involuntary movements	84274	COQ5	OMIM:619028
HP:0004305	Involuntary movements	25793	FBXO7	OMIM:260300
HP:0004305	Involuntary movements	80169	CTC1	OMIM:612199
HP:0004305	Involuntary movements	9570	GOSR2	OMIM:614018
HP:0004305	Involuntary movements	2747	GLUD2	OMIM:168600
HP:0004305	Involuntary movements	126	ADH1C	OMIM:168600
HP:0004305	Involuntary movements	2629	GBA1	OMIM:168600
HP:0004305	Involuntary movements	4929	NR4A2	OMIM:168600
HP:0004305	Involuntary movements	4576	MT-TT	OMIM:168600
HP:0004305	Involuntary movements	9627	SNCAIP	OMIM:168600
HP:0004305	Involuntary movements	3145	HMBS	ORPHA:79276
HP:0004305	Involuntary movements	10299	MARCHF6	OMIM:613608
HP:0004305	Involuntary movements	25974	MMACHC	OMIM:277400
HP:0004305	Involuntary movements	5052	PRDX1	OMIM:277400
HP:0004305	Involuntary movements	9990	SLC12A6	OMIM:218000
HP:0004305	Involuntary movements	5621	PRNP	ORPHA:282166
HP:0004305	Involuntary movements	5621	PRNP	OMIM:603218
HP:0004305	Involuntary movements	5621	PRNP	ORPHA:157941
HP:0004305	Involuntary movements	3064	HTT	ORPHA:399
HP:0004305	Involuntary movements	3064	HTT	OMIM:143100
HP:0004305	Involuntary movements	3064	HTT	ORPHA:248111
HP:0004305	Involuntary movements	6515	SLC2A3	ORPHA:399
HP:0004305	Involuntary movements	27183	VPS4A	OMIM:619273
HP:0004305	Involuntary movements	1173	AP2M1	OMIM:618587
HP:0004305	Involuntary movements	56896	DPYSL5	OMIM:619435
HP:0004305	Involuntary movements	9698	PUM1	OMIM:617931
HP:0004305	Involuntary movements	1356	CP	OMIM:604290
HP:0004305	Involuntary movements	1356	CP	ORPHA:48818
HP:0004305	Involuntary movements	60684	TRAPPC11	OMIM:615356
HP:0004305	Involuntary movements	60684	TRAPPC11	ORPHA:369840
HP:0004305	Involuntary movements	60684	TRAPPC11	ORPHA:369847
HP:0004305	Involuntary movements	2290	FOXG1	OMIM:613454
HP:0004305	Involuntary movements	2904	GRIN2B	OMIM:613970
HP:0004305	Involuntary movements	2904	GRIN2B	OMIM:616139
HP:0004305	Involuntary movements	9254	CACNA2D2	OMIM:618501
HP:0004305	Involuntary movements	781	CACNA2D1	OMIM:620149
HP:0004305	Involuntary movements	5309	PITX3	OMIM:610623
HP:0004305	Involuntary movements	51816	ADA2	ORPHA:820
HP:0004305	Involuntary movements	132158	GLYCTK	ORPHA:941
HP:0004305	Involuntary movements	8291	DYSF	ORPHA:268
HP:0004305	Involuntary movements	4535	MT-ND1	ORPHA:255210
HP:0004305	Involuntary movements	4536	MT-ND2	ORPHA:255210
HP:0004305	Involuntary movements	4537	MT-ND3	ORPHA:255210
HP:0004305	Involuntary movements	4538	MT-ND4	ORPHA:255210
HP:0004305	Involuntary movements	4567	MT-TL1	ORPHA:255210
HP:0004305	Involuntary movements	4578	MT-TW	ORPHA:255210
HP:0004305	Involuntary movements	4577	MT-TV	ORPHA:255210
HP:0004305	Involuntary movements	4540	MT-ND5	ORPHA:255210
HP:0004305	Involuntary movements	4541	MT-ND6	ORPHA:255210
HP:0004305	Involuntary movements	4566	MT-TK	ORPHA:255210
HP:0004305	Involuntary movements	9150	CTDP1	OMIM:604168
HP:0004305	Involuntary movements	2593	GAMT	ORPHA:382
HP:0004305	Involuntary movements	6531	SLC6A3	ORPHA:238455
HP:0004305	Involuntary movements	6531	SLC6A3	OMIM:613135
HP:0004305	Involuntary movements	6535	SLC6A8	ORPHA:52503
HP:0004305	Involuntary movements	5155	PDGFB	OMIM:615483
HP:0004305	Involuntary movements	5155	PDGFB	OMIM:213600
HP:0004305	Involuntary movements	16	AARS1	OMIM:616339
HP:0004305	Involuntary movements	54476	RNF216	OMIM:212840
HP:0004305	Involuntary movements	3781	KCNN2	OMIM:619725
HP:0004305	Involuntary movements	2891	GRIA2	OMIM:618917
HP:0004305	Involuntary movements	6314	ATXN7	OMIM:164500
HP:0004305	Involuntary movements	410	ARSA	ORPHA:309271
HP:0004305	Involuntary movements	410	ARSA	OMIM:250100
HP:0004305	Involuntary movements	23221	RHOBTB2	OMIM:618004
HP:0004305	Involuntary movements	7343	UBTF	OMIM:617672
HP:0004305	Involuntary movements	7343	UBTF	ORPHA:500180
HP:0004305	Involuntary movements	6844	VAMP2	OMIM:618760
HP:0004305	Involuntary movements	7128	TNFAIP3	OMIM:616744
HP:0004305	Involuntary movements	5119	CHMP1A	OMIM:614961
HP:0004305	Involuntary movements	1183	CLCN4	ORPHA:485350
HP:0004305	Involuntary movements	6575	SLC20A2	OMIM:213600
HP:0004305	Involuntary movements	5159	PDGFRB	OMIM:213600
HP:0004305	Involuntary movements	10273	STUB1	OMIM:618093
HP:0004305	Involuntary movements	538	ATP7A	ORPHA:565
HP:0004305	Involuntary movements	39	ACAT2	OMIM:614055
HP:0004305	Involuntary movements	23152	CIC	OMIM:617600
HP:0004305	Involuntary movements	54840	APTX	OMIM:208920
HP:0004305	Involuntary movements	2395	FXN	ORPHA:95
HP:0004305	Involuntary movements	6908	TBP	OMIM:607136
HP:0004305	Involuntary movements	6908	TBP	ORPHA:98759
HP:0004305	Involuntary movements	54	ACP5	ORPHA:1855
HP:0004305	Involuntary movements	7701	ZNF142	OMIM:618425
HP:0004305	Involuntary movements	7305	TYROBP	ORPHA:2770
HP:0004305	Involuntary movements	8405	SPOP	OMIM:618829
HP:0004305	Involuntary movements	6872	TAF1	ORPHA:53351
HP:0004305	Involuntary movements	6872	TAF1	OMIM:314250
HP:0004305	Involuntary movements	10128	LRPPRC	ORPHA:70472
HP:0004305	Involuntary movements	51284	TLR7	OMIM:301080
HP:0004305	Involuntary movements	25915	NDUFAF3	ORPHA:70474
HP:0004305	Involuntary movements	4714	NDUFB8	ORPHA:70474
HP:0004305	Involuntary movements	4720	NDUFS2	ORPHA:70474
HP:0004305	Involuntary movements	6834	SURF1	ORPHA:70474
HP:0004305	Involuntary movements	5700	PSMC1	OMIM:620071
HP:0004305	Involuntary movements	10280	SIGMAR1	ORPHA:300605
HP:0004305	Involuntary movements	10558	SPTLC1	ORPHA:300605
HP:0004305	Involuntary movements	57679	ALS2	ORPHA:300605
HP:0004305	Involuntary movements	7504	XK	OMIM:300842
HP:0004305	Involuntary movements	2760	GM2A	ORPHA:309246
HP:0004305	Involuntary movements	2760	GM2A	OMIM:272750
HP:0004305	Involuntary movements	7358	UGDH	OMIM:618792
HP:0004305	Involuntary movements	2893	GRIA4	OMIM:617864
HP:0004305	Involuntary movements	2555	GABRA2	OMIM:618557
HP:0004305	Involuntary movements	55164	SHQ1	OMIM:619922
HP:0004305	Involuntary movements	57462	MYORG	OMIM:618317
HP:0004305	Involuntary movements	54112	GPR88	OMIM:616939
HP:0004305	Involuntary movements	55739	NAXD	OMIM:618321
HP:0004305	Involuntary movements	3798	KIF5A	OMIM:617235
HP:0004305	Involuntary movements	84833	ATP5MK	OMIM:618683
HP:0004305	Involuntary movements	79587	CARS2	OMIM:616672
HP:0004305	Involuntary movements	22907	DHX30	OMIM:617804
HP:0004305	Involuntary movements	9524	TECR	OMIM:614020
HP:0004305	Involuntary movements	775	CACNA1C	OMIM:620029
HP:0004305	Involuntary movements	5457	POU4F1	ORPHA:314647
HP:0004305	Involuntary movements	5457	POU4F1	OMIM:619352
HP:0004305	Involuntary movements	23261	CAMTA1	ORPHA:314647
HP:0004305	Involuntary movements	85300	ATCAY	ORPHA:94122
HP:0004305	Involuntary movements	85300	ATCAY	OMIM:601238
HP:0004305	Involuntary movements	221496	LEMD2	OMIM:619322
HP:0004305	Involuntary movements	5917	RARS1	ORPHA:438114
HP:0004305	Involuntary movements	5917	RARS1	OMIM:616140
HP:0004305	Involuntary movements	343641	TGM6	OMIM:613908
HP:0004305	Involuntary movements	343641	TGM6	ORPHA:276193
HP:0004305	Involuntary movements	7436	VLDLR	OMIM:224050
HP:0004305	Involuntary movements	267010	RNU12	OMIM:620208
HP:0004305	Involuntary movements	267010	RNU12	ORPHA:512260
HP:0004305	Involuntary movements	26278	SACS	ORPHA:98
HP:0004305	Involuntary movements	26090	ABHD12	OMIM:612674
HP:0004305	Involuntary movements	27010	TPK1	OMIM:614458
HP:0004305	Involuntary movements	50801	KCNK4	OMIM:618381
HP:0004305	Involuntary movements	55280	CWF19L1	OMIM:616127
HP:0004305	Involuntary movements	55280	CWF19L1	ORPHA:453521
HP:0004305	Involuntary movements	4983	OPHN1	ORPHA:137831
HP:0004305	Involuntary movements	54499	TMCO1	OMIM:213980
HP:0004305	Involuntary movements	5293	PIK3CD	ORPHA:221139
HP:0004305	Involuntary movements	90417	KNSTRN	ORPHA:221139
HP:0004305	Involuntary movements	10908	PNPLA6	OMIM:215470
HP:0004305	Involuntary movements	5728	PTEN	OMIM:158350
HP:0004305	Involuntary movements	54870	QRICH1	OMIM:617982
HP:0004305	Involuntary movements	5192	PEX10	OMIM:614871
HP:0004305	Involuntary movements	81562	LMAN2L	OMIM:617863
HP:0004305	Involuntary movements	3295	HSD17B4	OMIM:233400
HP:0004305	Involuntary movements	5981	RFC1	ORPHA:504476
HP:0004305	Involuntary movements	2937	GSS	OMIM:266130
HP:0004305	Involuntary movements	9725	TMEM63A	OMIM:618688
HP:0004305	Involuntary movements	404672	GTF2H5	ORPHA:33364
HP:0004305	Involuntary movements	7737	RNF113A	ORPHA:33364
HP:0004305	Involuntary movements	136647	MPLKIP	ORPHA:33364
HP:0004305	Involuntary movements	6897	TARS1	ORPHA:33364
HP:0004305	Involuntary movements	2071	ERCC3	ORPHA:33364
HP:0004305	Involuntary movements	2961	GTF2E2	ORPHA:33364
HP:0004305	Involuntary movements	200403	VWA3B	OMIM:616948
HP:0004305	Involuntary movements	54936	ADPRS	OMIM:618170
HP:0004305	Involuntary movements	9897	WASHC5	ORPHA:100989
HP:0004305	Involuntary movements	9197	SLC33A1	ORPHA:171863
HP:0004305	Involuntary movements	9853	RUSC2	OMIM:617773
HP:0004305	Involuntary movements	51501	HIKESHI	OMIM:616881
HP:0004305	Involuntary movements	23446	SLC44A1	OMIM:618868
HP:0004305	Involuntary movements	22948	CCT5	ORPHA:139578
HP:0004305	Involuntary movements	22948	CCT5	OMIM:256840
HP:0004305	Involuntary movements	23503	ZFYVE26	OMIM:270700
HP:0004305	Involuntary movements	29925	GMPPB	ORPHA:370959
HP:0004305	Involuntary movements	79147	FKRP	ORPHA:370959
HP:0004305	Involuntary movements	29954	POMT2	ORPHA:370959
HP:0004305	Involuntary movements	84197	POMK	ORPHA:370959
HP:0004305	Involuntary movements	10585	POMT1	ORPHA:370959
HP:0004305	Involuntary movements	6536	SLC6A9	OMIM:617301
HP:0004305	Involuntary movements	271	AMPD2	OMIM:615686
HP:0004305	Involuntary movements	271	AMPD2	OMIM:615809
HP:0004305	Involuntary movements	9440	MED17	OMIM:613668
HP:0004305	Involuntary movements	25782	RAB3GAP2	OMIM:212720
HP:0004305	Involuntary movements	57582	KCNT1	OMIM:614959
HP:0004305	Involuntary movements	4952	OCRL	ORPHA:534
HP:0004305	Involuntary movements	10166	SLC25A15	ORPHA:415
HP:0004305	Involuntary movements	10166	SLC25A15	OMIM:238970
HP:0004305	Involuntary movements	9101	USP8	ORPHA:401795
HP:0004305	Involuntary movements	11117	EMILIN1	OMIM:620080
HP:0004305	Involuntary movements	137492	VPS37A	ORPHA:319199
HP:0004305	Involuntary movements	137492	VPS37A	OMIM:614898
HP:0004305	Involuntary movements	819	CAMLG	OMIM:620201
HP:0004305	Involuntary movements	4693	NDP	ORPHA:649
HP:0004305	Involuntary movements	128989	TANGO2	ORPHA:480864
HP:0004305	Involuntary movements	128989	TANGO2	OMIM:616878
HP:0004305	Involuntary movements	2801	GOLGA2	OMIM:620240
HP:0004305	Involuntary movements	28962	OSTM1	OMIM:259720
HP:0004305	Involuntary movements	22	ABCB7	OMIM:301310
HP:0004305	Involuntary movements	51271	UBAP1	ORPHA:100993
HP:0004305	Involuntary movements	857	CAV1	OMIM:606721
HP:0004305	Involuntary movements	23028	KDM1A	ORPHA:477993
HP:0004305	Involuntary movements	58497	PRUNE1	OMIM:617481
HP:0004305	Involuntary movements	58497	PRUNE1	ORPHA:544469
HP:0004305	Involuntary movements	246243	RNASEH1	OMIM:616479
HP:0004305	Involuntary movements	89874	SLC25A21	OMIM:618811
HP:0004305	Involuntary movements	3615	IMPDH2	ORPHA:98808
HP:0004305	Involuntary movements	4519	MT-CYB	ORPHA:104
HP:0004305	Involuntary movements	4519	MT-CYB	OMIM:535000
HP:0004305	Involuntary movements	4539	MT-ND4L	ORPHA:104
HP:0004305	Involuntary movements	4539	MT-ND4L	OMIM:535000
HP:0004305	Involuntary movements	8575	PRKRA	ORPHA:210571
HP:0004305	Involuntary movements	8575	PRKRA	OMIM:612067
HP:0004305	Involuntary movements	10397	NDRG1	ORPHA:99950
HP:0004305	Involuntary movements	51308	REEP2	ORPHA:401849
HP:0004305	Involuntary movements	5091	PC	OMIM:266150
HP:0004305	Involuntary movements	79876	UBA5	OMIM:617132
HP:0004305	Involuntary movements	776	CACNA1D	OMIM:615474
HP:0004305	Involuntary movements	776	CACNA1D	ORPHA:369929
HP:0004305	Involuntary movements	23316	CUX2	OMIM:618141
HP:0004305	Involuntary movements	51728	POLR3K	OMIM:619310
HP:0004305	Involuntary movements	27089	UQCRQ	OMIM:615159
HP:0004305	Involuntary movements	10059	DNM1L	OMIM:614388
HP:0004305	Involuntary movements	5828	PEX2	OMIM:614866
HP:0004305	Involuntary movements	1528	CYB5A	ORPHA:621
HP:0004305	Involuntary movements	1727	CYB5R3	ORPHA:621
HP:0004305	Involuntary movements	6609	SMPD1	OMIM:257200
HP:0004305	Involuntary movements	26503	SLC17A5	OMIM:604369
HP:0004305	Involuntary movements	10730	YME1L1	OMIM:617302
HP:0004305	Involuntary movements	50	ACO2	OMIM:614559
HP:0004305	Involuntary movements	5831	PYCR1	OMIM:614438
HP:0004305	Involuntary movements	5832	ALDH18A1	OMIM:219150
HP:0004305	Involuntary movements	54820	NDE1	OMIM:605013
HP:0004305	Involuntary movements	56652	TWNK	OMIM:271245
HP:0004305	Involuntary movements	55650	PIGV	OMIM:239300
HP:0004305	Involuntary movements	51324	SPG21	OMIM:248900
HP:0004305	Involuntary movements	29978	UBQLN2	OMIM:300857
HP:0004305	Involuntary movements	55572	FOXRED1	OMIM:618241
HP:0004305	Involuntary movements	2058	EPRS1	OMIM:617951
HP:0004305	Involuntary movements	549	AUH	OMIM:250950
HP:0004305	Involuntary movements	8803	SUCLA2	OMIM:612073
HP:0004305	Involuntary movements	6833	ABCC8	OMIM:618857
HP:0004305	Involuntary movements	8635	RNASET2	OMIM:612951
HP:0004305	Involuntary movements	113235	SLC46A1	OMIM:229050
HP:0004305	Involuntary movements	26227	PHGDH	ORPHA:79351
HP:0004305	Involuntary movements	8241	RBM10	OMIM:311900
HP:0004305	Involuntary movements	26058	GIGYF2	OMIM:607688
HP:0004305	Involuntary movements	26058	GIGYF2	ORPHA:411602
HP:0004305	Involuntary movements	11253	MAN1B1	ORPHA:397941
HP:0004305	Involuntary movements	7384	UQCRC1	OMIM:619279
HP:0004305	Involuntary movements	23317	DNAJC13	ORPHA:411602
HP:0004305	Involuntary movements	1981	EIF4G1	ORPHA:411602
HP:0004305	Involuntary movements	1981	EIF4G1	OMIM:614251
HP:0004305	Involuntary movements	116442	RAB39B	OMIM:311510
HP:0004305	Involuntary movements	51142	CHCHD2	OMIM:616710
HP:0004305	Involuntary movements	2592	GALT	ORPHA:79239
HP:0004305	Involuntary movements	3708	ITPR1	OMIM:606658
HP:0004305	Involuntary movements	3708	ITPR1	ORPHA:98769
HP:0004305	Involuntary movements	57338	JPH3	OMIM:606438
HP:0004305	Involuntary movements	55768	NGLY1	OMIM:615273
HP:0004305	Involuntary movements	55768	NGLY1	ORPHA:404454
HP:0004305	Involuntary movements	1181	CLCN2	OMIM:615651
HP:0004305	Involuntary movements	2521	FUS	OMIM:614782
HP:0004305	Involuntary movements	55532	SLC30A10	ORPHA:309854
HP:0004305	Involuntary movements	10352	WARS2	OMIM:619738
HP:0004305	Involuntary movements	2678	GGT1	OMIM:231950
HP:0004305	Involuntary movements	131669	UROC1	OMIM:276880
HP:0004305	Involuntary movements	131669	UROC1	ORPHA:210128
HP:0004305	Involuntary movements	131118	DNAJC19	ORPHA:66634
HP:0004305	Involuntary movements	6335	SCN9A	ORPHA:33069
HP:0004305	Involuntary movements	6326	SCN2A	ORPHA:33069
HP:0004305	Involuntary movements	2554	GABRA1	ORPHA:33069
HP:0004305	Involuntary movements	6323	SCN1A	ORPHA:33069
HP:0004305	Involuntary movements	6324	SCN1B	ORPHA:33069
HP:0004305	Involuntary movements	57526	PCDH19	ORPHA:33069
HP:0004305	Involuntary movements	2566	GABRG2	ORPHA:33069
HP:0004305	Involuntary movements	80704	SLC19A3	OMIM:607483
HP:0004305	Involuntary movements	10159	ATP6AP2	ORPHA:93952
HP:0004305	Involuntary movements	10159	ATP6AP2	OMIM:300423
HP:0004305	Involuntary movements	4359	MPZ	OMIM:180800
HP:0004305	Involuntary movements	5376	PMP22	OMIM:180800
HP:0004305	Involuntary movements	5521	PPP2R2B	OMIM:604326
HP:0004305	Involuntary movements	5521	PPP2R2B	ORPHA:98762
HP:0004305	Involuntary movements	1822	ATN1	ORPHA:101
HP:0004305	Involuntary movements	492	ATP2B3	OMIM:302500
HP:0004305	Involuntary movements	492	ATP2B3	ORPHA:314978
HP:0004305	Involuntary movements	3766	KCNJ10	ORPHA:199343
HP:0004305	Involuntary movements	6548	SLC9A1	OMIM:616291
HP:0004305	Involuntary movements	2332	FMR1	OMIM:300623
HP:0004305	Involuntary movements	7084	TK2	ORPHA:254886
HP:0004305	Involuntary movements	5428	POLG	ORPHA:254886
HP:0004305	Involuntary movements	1814	DRD3	OMIM:190300
HP:0004305	Involuntary movements	6311	ATXN2	OMIM:183090
HP:0004305	Involuntary movements	1293	COL6A3	OMIM:616411
HP:0004305	Involuntary movements	1293	COL6A3	ORPHA:464440
HP:0004305	Involuntary movements	7532	YWHAG	OMIM:617665
HP:0004305	Involuntary movements	950	SCARB2	OMIM:254900
HP:0004305	Involuntary movements	8996	NOL3	OMIM:614937
HP:0004305	Involuntary movements	4884	NPTX1	OMIM:620158
HP:0004305	Involuntary movements	4001	LMNB1	ORPHA:99027
HP:0004305	Involuntary movements	11128	POLR3A	ORPHA:3455
HP:0004305	Involuntary movements	25792	CIZ1	ORPHA:420492
HP:0004305	Involuntary movements	1786	DNMT1	ORPHA:314404
HP:0004305	Involuntary movements	5190	PEX6	ORPHA:95433
HP:0004305	Involuntary movements	79628	SH3TC2	ORPHA:99949
HP:0004305	Involuntary movements	6342	SCP2	OMIM:613724
HP:0004305	Involuntary movements	5165	PDK3	OMIM:300905
HP:0004305	Involuntary movements	5165	PDK3	ORPHA:352675
HP:0004305	Involuntary movements	7253	TSHR	ORPHA:99819
HP:0004305	Involuntary movements	7253	TSHR	ORPHA:424
HP:0004305	Involuntary movements	4803	NGF	OMIM:608654
HP:0004305	Involuntary movements	5375	PMP2	OMIM:618279
HP:0004305	Involuntary movements	122553	TRAPPC6B	OMIM:617862
HP:0004305	Involuntary movements	57505	AARS2	OMIM:615889
HP:0004305	Involuntary movements	2645	GCK	ORPHA:79299
HP:0004305	Involuntary movements	4141	MARS1	ORPHA:401835
HP:0004305	Involuntary movements	51663	ZFR	ORPHA:401840
HP:0004305	Involuntary movements	55023	PHIP	ORPHA:589905
HP:0004305	Involuntary movements	10058	ABCB6	OMIM:609153
HP:0004305	Involuntary movements	10749	KIF1C	ORPHA:397946
HP:0004305	Involuntary movements	10749	KIF1C	OMIM:611302
HP:0004305	Involuntary movements	1410	CRYAB	OMIM:608810
HP:0004305	Involuntary movements	4287	ATXN3	OMIM:109150
HP:0004305	Involuntary movements	1938	EEF2	ORPHA:101112
HP:0004305	Involuntary movements	5393	EXOSC9	OMIM:618065
HP:0004305	Involuntary movements	23345	SYNE1	ORPHA:88644
HP:0004305	Involuntary movements	3315	HSPB1	OMIM:606595
HP:0004305	Involuntary movements	8878	SQSTM1	ORPHA:275872
HP:0004305	Involuntary movements	8878	SQSTM1	ORPHA:275864
HP:0004305	Involuntary movements	8878	SQSTM1	OMIM:616437
HP:0004305	Involuntary movements	7415	VCP	ORPHA:275872
HP:0004305	Involuntary movements	7415	VCP	ORPHA:52430
HP:0004305	Involuntary movements	7415	VCP	ORPHA:329478
HP:0004305	Involuntary movements	7415	VCP	OMIM:613954
HP:0004305	Involuntary movements	7415	VCP	ORPHA:275864
HP:0004305	Involuntary movements	23435	TARDBP	ORPHA:275872
HP:0004305	Involuntary movements	29110	TBK1	ORPHA:275872
HP:0004305	Involuntary movements	29110	TBK1	OMIM:616439
HP:0004305	Involuntary movements	400916	CHCHD10	ORPHA:275872
HP:0004305	Involuntary movements	400916	CHCHD10	OMIM:615048
HP:0004305	Involuntary movements	400916	CHCHD10	ORPHA:276435
HP:0004305	Involuntary movements	7879	RAB7A	OMIM:600882
HP:0004305	Involuntary movements	3074	HEXB	ORPHA:309162
HP:0004305	Involuntary movements	3074	HEXB	ORPHA:309169
HP:0004305	Involuntary movements	3074	HEXB	OMIM:268800
HP:0004305	Involuntary movements	55187	VPS13D	OMIM:607317
HP:0004305	Involuntary movements	55187	VPS13D	ORPHA:95434
HP:0004305	Involuntary movements	6647	SOD1	OMIM:618598
HP:0004305	Involuntary movements	6647	SOD1	OMIM:105400
HP:0004305	Involuntary movements	10613	ERLIN1	OMIM:615681
HP:0004305	Involuntary movements	10528	NOP56	OMIM:614153
HP:0004305	Involuntary movements	10528	NOP56	ORPHA:276198
HP:0004305	Involuntary movements	5660	PSAP	OMIM:611721
HP:0004305	Involuntary movements	90678	LRSAM1	OMIM:614436
HP:0004305	Involuntary movements	10342	TFG	OMIM:604484
HP:0004305	Involuntary movements	7443	VRK1	OMIM:607596
HP:0004305	Involuntary movements	6785	ELOVL4	OMIM:133190
HP:0004305	Involuntary movements	3178	HNRNPA1	ORPHA:52430
HP:0004305	Involuntary movements	3181	HNRNPA2B1	ORPHA:52430
HP:0004305	Involuntary movements	6310	ATXN1	ORPHA:98755
HP:0004305	Involuntary movements	6310	ATXN1	OMIM:164400
HP:0004305	Involuntary movements	57104	PNPLA2	OMIM:610717
HP:0004305	Involuntary movements	57104	PNPLA2	ORPHA:98908
HP:0004305	Involuntary movements	487	ATP2A1	OMIM:601003
HP:0004305	Involuntary movements	6904	TBCD	ORPHA:496641
HP:0004305	Involuntary movements	55129	ANO10	ORPHA:284289
HP:0004305	Involuntary movements	55129	ANO10	OMIM:613728
HP:0004305	Involuntary movements	3094	HINT1	OMIM:137200
HP:0004305	Involuntary movements	23299	BICD2	OMIM:615290
HP:0004305	Involuntary movements	7345	UCHL1	OMIM:615491
HP:0004305	Involuntary movements	2717	GLA	OMIM:301500
HP:0004305	Involuntary movements	182	JAG1	OMIM:619574
HP:0004305	Involuntary movements	81545	FBXO38	OMIM:615575
HP:0004305	Involuntary movements	10133	OPTN	OMIM:613435
HP:0004305	Involuntary movements	311	ANXA11	OMIM:619733
HP:0004305	Involuntary movements	55681	SCYL2	ORPHA:1143
HP:0004305	Involuntary movements	84570	COL25A1	ORPHA:1143
HP:0004305	Involuntary movements	57222	ERGIC1	ORPHA:1143
HP:0004305	Involuntary movements	6261	RYR1	ORPHA:324581
HP:0004305	Involuntary movements	9997	SCO2	ORPHA:521411
HP:0004305	Involuntary movements	80208	SPG11	OMIM:602099
HP:0004305	Involuntary movements	5216	PFN1	OMIM:614808
HP:0004305	Involuntary movements	27072	VPS41	ORPHA:95434
HP:0004305	Involuntary movements	9217	VAPB	OMIM:608627
HP:0004305	Involuntary movements	9217	VAPB	OMIM:182980
HP:0004305	Involuntary movements	899	CCNF	OMIM:619141
HP:0004305	Involuntary movements	57531	HACE1	ORPHA:464282
HP:0004305	Involuntary movements	114034	TOE1	ORPHA:284339
HP:0004305	Involuntary movements	9562	MINPP1	ORPHA:284339
HP:0004305	Involuntary movements	6329	SCN4A	ORPHA:682
HP:0004305	Involuntary movements	2743	GLRB	ORPHA:3197
HP:0004305	Involuntary movements	2741	GLRA1	ORPHA:3197
HP:0004305	Involuntary movements	10243	GPHN	ORPHA:3197
HP:0004305	Involuntary movements	84896	ATAD1	ORPHA:3197
HP:0004305	Involuntary movements	9152	SLC6A5	ORPHA:3197
HP:0004305	Involuntary movements	65250	CPLANE1	ORPHA:65684
HP:0004305	Involuntary movements	57562	CEP126	ORPHA:65684
HP:0004305	Involuntary movements	25978	CHMP2B	ORPHA:275864
HP:0004305	Involuntary movements	5663	PSEN1	ORPHA:275864
HP:0004305	Involuntary movements	2896	GRN	ORPHA:275864
HP:0004305	Involuntary movements	54664	TMEM106B	ORPHA:275864
HP:0004305	Involuntary movements	4137	MAPT	ORPHA:275864
HP:0004305	Involuntary movements	54209	TREM2	ORPHA:275864
HP:0004305	Involuntary movements	367	AR	OMIM:313200
HP:0004305	Involuntary movements	5630	PRPH	OMIM:105400
HP:0004305	Involuntary movements	1639	DCTN1	OMIM:105400
HP:0004305	Involuntary movements	4744	NEFH	OMIM:105400
HP:0004305	Involuntary movements	1756	DMD	ORPHA:206546
HP:0004305	Involuntary movements	4747	NEFL	ORPHA:101085
HP:0004305	Involuntary movements	84504	NKX6-2	OMIM:617560
HP:0004305	Involuntary movements	84504	NKX6-2	ORPHA:527497
HP:0004305	Involuntary movements	284217	LAMA1	ORPHA:370022
HP:0004305	Involuntary movements	25828	TXN2	ORPHA:478029
HP:0004305	Involuntary movements	4337	MOCS1	OMIM:252150
HP:0004305	Involuntary movements	4338	MOCS2	OMIM:252160
HP:0004305	Involuntary movements	8675	STX16	ORPHA:94089
HP:0004305	Involuntary movements	10522	DEAF1	OMIM:617171
HP:0004305	Involuntary movements	10522	DEAF1	ORPHA:468620
HP:0004305	Involuntary movements	23499	MACF1	ORPHA:572013
HP:0004305	Involuntary movements	23499	MACF1	OMIM:618325
HP:0004305	Involuntary movements	387119	CEP85L	ORPHA:572013
HP:0004305	Involuntary movements	815	CAMK2A	OMIM:617798
HP:0004305	Involuntary movements	1137	CHRNA4	ORPHA:98784
HP:0004305	Involuntary movements	1135	CHRNA2	ORPHA:98784
HP:0004305	Involuntary movements	57010	CABP4	ORPHA:98784
HP:0004305	Involuntary movements	1141	CHRNB2	ORPHA:98784
HP:0004305	Involuntary movements	1392	CRH	ORPHA:98784
HP:0004305	Involuntary movements	9681	DEPDC5	ORPHA:98784
HP:0004305	Involuntary movements	114327	EFHC1	OMIM:254770
HP:0004305	Involuntary movements	114327	EFHC1	ORPHA:307
HP:0004305	Involuntary movements	2563	GABRD	ORPHA:307
HP:0004305	Involuntary movements	3786	KCNQ3	ORPHA:307
HP:0004305	Involuntary movements	22858	CILK1	ORPHA:307
HP:0004305	Involuntary movements	8629	JRK	ORPHA:307
HP:0004305	Involuntary movements	785	CACNB4	ORPHA:307
HP:0004305	Involuntary movements	785	CACNB4	OMIM:607682
HP:0004305	Involuntary movements	144165	PRICKLE1	ORPHA:308
HP:0004305	Involuntary movements	1476	CSTB	ORPHA:308
HP:0004305	Involuntary movements	23258	DENND5A	OMIM:617281
HP:0004305	Involuntary movements	6334	SCN8A	OMIM:617080
HP:0004305	Involuntary movements	6334	SCN8A	ORPHA:31709
HP:0004305	Involuntary movements	111	ADCY5	OMIM:606703
HP:0004305	Involuntary movements	5138	PDE2A	OMIM:619150
HP:0004305	Involuntary movements	5138	PDE2A	ORPHA:31709
HP:0004305	Involuntary movements	51102	MECR	OMIM:617282
HP:0004305	Involuntary movements	25970	SH2B1	ORPHA:261197
HP:0004305	Involuntary movements	3778	KCNMA1	OMIM:618596
HP:0004305	Involuntary movements	3778	KCNMA1	OMIM:609446
HP:0004305	Involuntary movements	3778	KCNMA1	ORPHA:79137
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:31709
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:98811
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:98810
HP:0004305	Involuntary movements	773	CACNA1A	ORPHA:2131
HP:0004305	Involuntary movements	6507	SLC1A3	ORPHA:2131
HP:0004305	Involuntary movements	477	ATP1A2	ORPHA:2131
HP:0004305	Involuntary movements	478	ATP1A3	ORPHA:2131
HP:0004305	Involuntary movements	6513	SLC2A1	ORPHA:98811
HP:0004305	Involuntary movements	6513	SLC2A1	ORPHA:53583
HP:0004305	Involuntary movements	2902	GRIN1	ORPHA:208447
HP:0004305	Involuntary movements	25953	PNKD	ORPHA:98810
HP:0004305	Involuntary movements	54902	TTC19	OMIM:615157
HP:0004305	Involuntary movements	6606	SMN1	OMIM:253400
HP:0004305	Involuntary movements	6607	SMN2	OMIM:253400
HP:0004305	Involuntary movements	23230	VPS13A	OMIM:200150
HP:0004305	Involuntary movements	8913	CACNA1G	ORPHA:458803
HP:0004305	Involuntary movements	63982	ANO3	ORPHA:420485
HP:0004305	Involuntary movements	2670	GFAP	OMIM:203450
HP:0004305	Involuntary movements	2670	GFAP	ORPHA:363717
HP:0004305	Involuntary movements	2670	GFAP	ORPHA:363722
HP:0004305	Involuntary movements	8314	BAP1	ORPHA:2495
HP:0004305	Involuntary movements	4771	NF2	ORPHA:2495
HP:0004305	Involuntary movements	6598	SMARCB1	ORPHA:2495
HP:0004305	Involuntary movements	84231	TRAF7	ORPHA:2495
HP:0004305	Involuntary movements	6608	SMO	ORPHA:2495
HP:0004305	Involuntary movements	207	AKT1	ORPHA:2495
HP:0004305	Involuntary movements	7015	TERT	ORPHA:2495
HP:0004305	Involuntary movements	6605	SMARCE1	ORPHA:2495
HP:0004305	Involuntary movements	11160	ERLIN2	ORPHA:280384
HP:0004305	Involuntary movements	11160	ERLIN2	ORPHA:209951
HP:0004305	Involuntary movements	11160	ERLIN2	OMIM:611225
HP:0004305	Involuntary movements	85465	SELENOI	ORPHA:506353
HP:0004305	Involuntary movements	85465	SELENOI	OMIM:618768
HP:0004305	Involuntary movements	51062	ATL1	ORPHA:100984
HP:0004305	Involuntary movements	4728	NDUFS8	OMIM:618222
HP:0004305	Involuntary movements	55697	VAC14	OMIM:617054
HP:0004305	Involuntary movements	56006	SMG9	OMIM:619995
HP:0004305	Involuntary movements	6683	SPAST	ORPHA:100985
HP:0004305	Involuntary movements	51604	PIGT	OMIM:615398
HP:0004305	Involuntary movements	9420	CYP7B1	ORPHA:100986
HP:0004305	Involuntary movements	23516	SLC39A14	OMIM:617013
HP:0004305	Involuntary movements	23516	SLC39A14	ORPHA:521406
HP:0004305	Involuntary movements	22931	RAB18	OMIM:614222
HP:0004305	Involuntary movements	1593	CYP27A1	OMIM:213700
HP:0004305	Involuntary movements	3839	KPNA3	OMIM:620106
HP:0004305	Involuntary movements	959	CD40LG	OMIM:308230
HP:0004305	Involuntary movements	64837	KLC2	OMIM:609541
HP:0004305	Involuntary movements	2258	FGF13	OMIM:301058
HP:0004305	Involuntary movements	440193	CCDC88C	OMIM:616053
HP:0004305	Involuntary movements	84340	GFM2	OMIM:618397
HP:0004305	Involuntary movements	84340	GFM2	ORPHA:565624
HP:0004305	Involuntary movements	79152	FA2H	ORPHA:171629
HP:0004305	Involuntary movements	79152	FA2H	OMIM:612319
HP:0004305	Involuntary movements	9409	PEX16	OMIM:614877
HP:0004305	Involuntary movements	6509	SLC1A4	OMIM:616657
HP:0004305	Involuntary movements	547	KIF1A	OMIM:610357
HP:0004305	Involuntary movements	9338	TCEAL1	OMIM:301094
HP:0004305	Involuntary movements	5456	POU3F4	ORPHA:1435
HP:0004305	Involuntary movements	219285	SAMD9L	OMIM:159550
HP:0004305	Involuntary movements	9289	ADGRG1	OMIM:606854
HP:0004305	Involuntary movements	215	ABCD1	ORPHA:139396
HP:0004305	Involuntary movements	118813	ZFYVE27	OMIM:610244
HP:0004305	Involuntary movements	2581	GALC	ORPHA:206436
HP:0004305	Involuntary movements	1678	TIMM8A	ORPHA:52368
HP:0004305	Involuntary movements	6712	SPTBN2	OMIM:600224
HP:0004305	Involuntary movements	823	CAPN1	ORPHA:488594
HP:0004305	Involuntary movements	5297	PI4KA	OMIM:619621
HP:0004305	Involuntary movements	833	CARS1	OMIM:618891
HP:0004305	Involuntary movements	65055	REEP1	OMIM:610250
HP:0004305	Involuntary movements	23111	SPART	OMIM:275900
HP:0004305	Involuntary movements	57704	GBA2	OMIM:614409
HP:0004305	Involuntary movements	113278	SLC52A3	OMIM:211530
HP:0004305	Involuntary movements	91574	MTRFR	OMIM:615035
HP:0004305	Involuntary movements	6253	RTN2	OMIM:604805
HP:0004305	Involuntary movements	6095	RORA	OMIM:618060
HP:0004305	Involuntary movements	3747	KCNC2	OMIM:619913
HP:0004305	Involuntary movements	427	ASAH1	ORPHA:2590
HP:0004305	Involuntary movements	6096	RORB	OMIM:618357
HP:0004305	Involuntary movements	6529	SLC6A1	OMIM:616421
HP:0004305	Involuntary movements	1719	DHFR	OMIM:613839
HP:0004305	Involuntary movements	6792	CDKL5	ORPHA:3095
HP:0004305	Involuntary movements	22854	NTNG1	ORPHA:3095
HP:0004305	Involuntary movements	9568	GABBR2	ORPHA:3095
HP:0004305	Involuntary movements	4204	MECP2	ORPHA:3095
HP:0004305	Involuntary movements	8243	SMC1A	ORPHA:3095
HP:0004305	Involuntary movements	8398	PLA2G6	OMIM:612953
HP:0004305	Involuntary movements	9829	DNAJC6	OMIM:615528
HP:0004305	Involuntary movements	1200	TPP1	OMIM:609270
HP:0004305	Involuntary movements	54974	THG1L	OMIM:618800
HP:0004305	Involuntary movements	84668	HYCC1	OMIM:610532
HP:0004305	Involuntary movements	28982	FLVCR1	ORPHA:88628
HP:0004305	Involuntary movements	91452	ACBD5	OMIM:618863
HP:0004305	Involuntary movements	221927	BRAT1	OMIM:618056
HP:0004305	Involuntary movements	6711	SPTBN1	OMIM:619475
HP:0004305	Involuntary movements	25814	ATXN10	ORPHA:98761
HP:0004305	Involuntary movements	2898	GRIK2	OMIM:611092
HP:0004305	Involuntary movements	4128	MAOA	OMIM:300615
HP:0004305	Involuntary movements	10939	AFG3L2	ORPHA:101109
HP:0004305	Involuntary movements	63929	XPNPEP3	OMIM:613159
HP:0004305	Involuntary movements	100996717	NOTCH2NLC	OMIM:618866
HP:0004305	Involuntary movements	84919	PPP1R15B	OMIM:616817
HP:0004305	Involuntary movements	3475	IFRD1	ORPHA:98771
HP:0004305	Involuntary movements	4099	MAG	ORPHA:459056
HP:0004305	Involuntary movements	10531	PITRM1	OMIM:619405
HP:0004305	Involuntary movements	3748	KCNC3	ORPHA:98768
HP:0004305	Involuntary movements	22880	MORC2	ORPHA:466768
HP:0004305	Involuntary movements	26011	TENM4	OMIM:616736
HP:0004305	Involuntary movements	4604	MYBPC1	OMIM:618524
HP:0004305	Involuntary movements	5741	PTH	OMIM:146200
HP:0004305	Involuntary movements	27327	TNRC6A	OMIM:618074
HP:0004305	Involuntary movements	9693	RAPGEF2	OMIM:618075
HP:0004305	Involuntary movements	5238	PGM3	ORPHA:443811
HP:0004305	Involuntary movements	5238	PGM3	OMIM:615816
HP:0004305	Involuntary movements	2767	GNA11	ORPHA:428
HP:0004305	Involuntary movements	846	CASR	ORPHA:428
HP:0004305	Involuntary movements	154881	KCTD7	ORPHA:263516
HP:0004305	Involuntary movements	1813	DRD2	ORPHA:36899
HP:0004305	Involuntary movements	8910	SGCE	ORPHA:36899
HP:0004305	Involuntary movements	79734	KCTD17	ORPHA:36899
HP:0004305	Involuntary movements	1861	TOR1A	ORPHA:36899
HP:0004305	Involuntary movements	3785	KCNQ2	ORPHA:1949
HP:0004305	Involuntary movements	3785	KCNQ2	ORPHA:306
HP:0004305	Involuntary movements	2562	GABRB3	ORPHA:64280
HP:0004305	Involuntary movements	8912	CACNA1H	ORPHA:64280
HP:0004305	Involuntary movements	10935	PRDX3	OMIM:619862
HP:0004305	Involuntary movements	10815	CPLX1	ORPHA:352582
HP:0004305	Involuntary movements	57465	TBC1D24	ORPHA:352582
HP:0004305	Involuntary movements	29960	MRM2	OMIM:618567
HP:0004305	Involuntary movements	5610	EIF2AK2	OMIM:618877
HP:0004305	Involuntary movements	10846	PDE10A	OMIM:616921
HP:0004305	Involuntary movements	10846	PDE10A	ORPHA:494526
HP:0004305	Involuntary movements	6857	SYT1	ORPHA:522077
HP:0004305	Involuntary movements	3704	ITPA	OMIM:616647
HP:0004305	Involuntary movements	80055	PGAP1	ORPHA:401820
HP:0004305	Involuntary movements	6638	SNRPN	OMIM:105830
HP:0004305	Involuntary movements	9578	CDC42BPB	OMIM:619841
HP:0004307	Abnormal anatomic location of the heart	23241	PACS2	OMIM:618067
HP:0004307	Abnormal anatomic location of the heart	4838	NODAL	OMIM:270100
HP:0004307	Abnormal anatomic location of the heart	54880	BCOR	OMIM:300166
HP:0004307	Abnormal anatomic location of the heart	2187	FANCB	OMIM:314390
HP:0004307	Abnormal anatomic location of the heart	7547	ZIC3	OMIM:314390
HP:0004307	Abnormal anatomic location of the heart	7547	ZIC3	OMIM:306955
HP:0004307	Abnormal anatomic location of the heart	55788	LMBRD1	OMIM:277380
HP:0004307	Abnormal anatomic location of the heart	745	MYRF	OMIM:618280
HP:0004307	Abnormal anatomic location of the heart	2626	GATA4	OMIM:607941
HP:0004307	Abnormal anatomic location of the heart	78987	CRELD1	OMIM:606217
HP:0004307	Abnormal anatomic location of the heart	23483	TGDS	OMIM:616145
HP:0004307	Abnormal anatomic location of the heart	93	ACVR2B	OMIM:613751
HP:0004307	Abnormal anatomic location of the heart	4000	LMNA	ORPHA:1662
HP:0004307	Abnormal anatomic location of the heart	10269	ZMPSTE24	ORPHA:1662
HP:0004307	Abnormal anatomic location of the heart	4087	SMAD2	OMIM:619657
HP:0004307	Abnormal anatomic location of the heart	1000	CDH2	OMIM:618929
HP:0004307	Abnormal anatomic location of the heart	25970	SH2B1	ORPHA:261197
HP:0004307	Abnormal anatomic location of the heart	168507	PKD1L1	OMIM:617205
HP:0004307	Abnormal anatomic location of the heart	80781	COL18A1	ORPHA:1571
HP:0004307	Abnormal anatomic location of the heart	5062	PAK2	ORPHA:1571
HP:0004307	Abnormal anatomic location of the heart	27019	DNAI1	OMIM:244400
HP:0004307	Abnormal anatomic location of the heart	27019	DNAI1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	79600	TCTN1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79600	TCTN1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79848	CSPP1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79848	CSPP1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	51684	SUFU	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	54806	AHI1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	153241	CEP120	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65250	CPLANE1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	91147	TMEM67	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	91147	TMEM67	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	200894	ARL13B	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	9731	CEP104	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	219844	HYLS1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	23247	KATNIP	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	219854	TMEM218	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	54903	MKS1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	54903	MKS1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	95681	CEP41	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	9786	KIAA0586	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	56623	INPP5E	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79867	TCTN2	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79867	TCTN2	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	80776	B9D2	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	80776	B9D2	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	10464	PIBF1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	80210	ARMC9	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	23116	TOGARAM1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	25776	CBY1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	27077	B9D1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	27077	B9D1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	403	ARL3	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65062	TMEM237	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65062	TMEM237	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	139212	DNAAF6	OMIM:300991
HP:0004307	Abnormal anatomic location of the heart	139212	DNAAF6	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85016	CFAP300	OMIM:618063
HP:0004307	Abnormal anatomic location of the heart	85016	CFAP300	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	5396	PRRX1	ORPHA:990
HP:0004307	Abnormal anatomic location of the heart	5396	PRRX1	OMIM:202650
HP:0004307	Abnormal anatomic location of the heart	5015	OTX2	ORPHA:990
HP:0004307	Abnormal anatomic location of the heart	83538	ODAD4	OMIM:617092
HP:0004307	Abnormal anatomic location of the heart	83538	ODAD4	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	1770	DNAH9	OMIM:618300
HP:0004307	Abnormal anatomic location of the heart	1770	DNAH9	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	83861	RSPH3	OMIM:616481
HP:0004307	Abnormal anatomic location of the heart	83861	RSPH3	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	5311	PKD2	OMIM:613095
HP:0004307	Abnormal anatomic location of the heart	23568	ARL2BP	OMIM:615434
HP:0004307	Abnormal anatomic location of the heart	10309	CCNO	OMIM:615872
HP:0004307	Abnormal anatomic location of the heart	10309	CCNO	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55329	MNS1	OMIM:618948
HP:0004307	Abnormal anatomic location of the heart	25981	DNAH1	OMIM:617577
HP:0004307	Abnormal anatomic location of the heart	25981	DNAH1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54585	LZTFL1	OMIM:615994
HP:0004307	Abnormal anatomic location of the heart	64446	DNAI2	OMIM:612444
HP:0004307	Abnormal anatomic location of the heart	64446	DNAI2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	4487	MSX1	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	5818	NECTIN1	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	8626	TP63	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	3664	IRF6	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	54768	HYDIN	OMIM:608647
HP:0004307	Abnormal anatomic location of the heart	54768	HYDIN	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	197131	UBR1	OMIM:243800
HP:0004307	Abnormal anatomic location of the heart	7490	WT1	ORPHA:3097
HP:0004307	Abnormal anatomic location of the heart	89765	RSPH1	OMIM:615481
HP:0004307	Abnormal anatomic location of the heart	89765	RSPH1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	161582	DNAAF4	OMIM:615482
HP:0004307	Abnormal anatomic location of the heart	161582	DNAAF4	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	27031	NPHP3	OMIM:208540
HP:0004307	Abnormal anatomic location of the heart	27031	NPHP3	OMIM:267010
HP:0004307	Abnormal anatomic location of the heart	10991	SLC38A3	OMIM:619881
HP:0004307	Abnormal anatomic location of the heart	221421	RSPH9	OMIM:612650
HP:0004307	Abnormal anatomic location of the heart	221421	RSPH9	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54919	DNAAF5	OMIM:614874
HP:0004307	Abnormal anatomic location of the heart	54919	DNAAF5	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	146845	CFAP52	OMIM:619607
HP:0004307	Abnormal anatomic location of the heart	51364	ZMYND10	OMIM:615444
HP:0004307	Abnormal anatomic location of the heart	51364	ZMYND10	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	25790	CFAP45	OMIM:619608
HP:0004307	Abnormal anatomic location of the heart	10126	DNAL4	OMIM:616059
HP:0004307	Abnormal anatomic location of the heart	388389	CCDC103	OMIM:614679
HP:0004307	Abnormal anatomic location of the heart	388389	CCDC103	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	25914	RTTN	OMIM:614833
HP:0004307	Abnormal anatomic location of the heart	8701	DNAH11	OMIM:611884
HP:0004307	Abnormal anatomic location of the heart	8701	DNAH11	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	1767	DNAH5	OMIM:608644
HP:0004307	Abnormal anatomic location of the heart	1767	DNAH5	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55997	CFC1	OMIM:605376
HP:0004307	Abnormal anatomic location of the heart	85452	CFAP74	OMIM:620197
HP:0004307	Abnormal anatomic location of the heart	8382	NME5	OMIM:620032
HP:0004307	Abnormal anatomic location of the heart	10084	PQBP1	OMIM:309500
HP:0004307	Abnormal anatomic location of the heart	123872	DNAAF1	OMIM:613193
HP:0004307	Abnormal anatomic location of the heart	123872	DNAAF1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	79989	IFT56	OMIM:619534
HP:0004307	Abnormal anatomic location of the heart	2657	GDF1	OMIM:208530
HP:0004307	Abnormal anatomic location of the heart	55130	ODAD2	OMIM:615451
HP:0004307	Abnormal anatomic location of the heart	55130	ODAD2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	10560	SLC19A2	OMIM:249270
HP:0004307	Abnormal anatomic location of the heart	23090	ZNF423	OMIM:614844
HP:0004307	Abnormal anatomic location of the heart	284086	NEK8	OMIM:615415
HP:0004307	Abnormal anatomic location of the heart	118856	MMP21	OMIM:616749
HP:0004307	Abnormal anatomic location of the heart	115948	ODAD3	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	115948	ODAD3	OMIM:616037
HP:0004307	Abnormal anatomic location of the heart	352909	DNAAF3	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	352909	DNAAF3	OMIM:606763
HP:0004307	Abnormal anatomic location of the heart	27148	STK36	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	51314	NME8	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	92749	DRC1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54970	TTC12	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	152110	NEK10	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	8481	OFD1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	2302	FOXJ1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85478	CCDC65	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85478	CCDC65	OMIM:615504
HP:0004307	Abnormal anatomic location of the heart	55036	CCDC40	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55036	CCDC40	OMIM:613808
HP:0004307	Abnormal anatomic location of the heart	6674	SPAG1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	6674	SPAG1	OMIM:615505
HP:0004307	Abnormal anatomic location of the heart	83544	DNAL1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	83544	DNAL1	OMIM:614017
HP:0004307	Abnormal anatomic location of the heart	200373	CFAP221	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	374407	DNAJB13	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55172	DNAAF2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55172	DNAAF2	OMIM:612518
HP:0004307	Abnormal anatomic location of the heart	2622	GAS8	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	23639	DNAAF11	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	23639	DNAAF11	OMIM:614935
HP:0004307	Abnormal anatomic location of the heart	345895	RSPH4A	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	6103	RPGR	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	93233	ODAD1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	93233	ODAD1	OMIM:615067
HP:0004307	Abnormal anatomic location of the heart	345643	MCIDAS	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	56683	CFAP298	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	56683	CFAP298	OMIM:615500
HP:0004307	Abnormal anatomic location of the heart	79925	SPEF2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	115399	LRRC56	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	339829	CCDC39	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	339829	CCDC39	OMIM:613807
HP:0004307	Abnormal anatomic location of the heart	246176	GAS2L2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	5566	PRKACA	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	5567	PRKACB	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	2735	GLI1	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	2121	EVC	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	51626	DYNC2LI1	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	132884	EVC2	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	84314	TMEM107	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	26123	TCTN3	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	57096	RPGRIP1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	80184	CEP290	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	51259	TMEM216	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	57545	CC2D2A	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79583	TMEM231	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79770	TXNDC15	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	23322	RPGRIP1L	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	203286	ANKS6	OMIM:615382
HP:0004307	Abnormal anatomic location of the heart	123016	TTC8	OMIM:615985
HP:0004307	Abnormal anatomic location of the heart	84667	HES7	OMIM:613686
HP:0004307	Abnormal anatomic location of the heart	1954	MEGF8	OMIM:614976
HP:0004307	Abnormal anatomic location of the heart	220136	CFAP53	OMIM:614779
HP:0004307	Abnormal anatomic location of the heart	100128908	CIROP	OMIM:619702
HP:0004307	Abnormal anatomic location of the heart	63895	PIEZO2	ORPHA:2461
HP:0004307	Abnormal anatomic location of the heart	27130	INVS	OMIM:602088
HP:0004307	Abnormal anatomic location of the heart	10847	SRCAP	ORPHA:2044
HP:0004307	Abnormal anatomic location of the heart	10847	SRCAP	OMIM:136140
HP:0004308	Ventricular arrhythmia	8518	ELP1	OMIM:223900
HP:0004308	Ventricular arrhythmia	8518	ELP1	ORPHA:1764
HP:0004308	Ventricular arrhythmia	2328	FMO3	OMIM:602079
HP:0004308	Ventricular arrhythmia	137814	NKX2-6	ORPHA:3384
HP:0004308	Ventricular arrhythmia	23129	PLXND1	ORPHA:3384
HP:0004308	Ventricular arrhythmia	6390	SDHB	OMIM:115310
HP:0004308	Ventricular arrhythmia	6390	SDHB	OMIM:171300
HP:0004308	Ventricular arrhythmia	55654	TMEM127	OMIM:171300
HP:0004308	Ventricular arrhythmia	5979	RET	OMIM:171300
HP:0004308	Ventricular arrhythmia	6392	SDHD	OMIM:171300
HP:0004308	Ventricular arrhythmia	6392	SDHD	OMIM:168000
HP:0004308	Ventricular arrhythmia	4149	MAX	OMIM:171300
HP:0004308	Ventricular arrhythmia	7428	VHL	OMIM:171300
HP:0004308	Ventricular arrhythmia	171023	ASXL1	ORPHA:98849
HP:0004308	Ventricular arrhythmia	54790	TET2	ORPHA:98849
HP:0004308	Ventricular arrhythmia	3815	KIT	ORPHA:98849
HP:0004308	Ventricular arrhythmia	6427	SRSF2	ORPHA:98849
HP:0004308	Ventricular arrhythmia	6335	SCN9A	OMIM:167400
HP:0004308	Ventricular arrhythmia	3759	KCNJ2	OMIM:609622
HP:0004308	Ventricular arrhythmia	2203	FBP1	ORPHA:348
HP:0004308	Ventricular arrhythmia	2203	FBP1	OMIM:229700
HP:0004308	Ventricular arrhythmia	7555	CNBP	OMIM:602668
HP:0004308	Ventricular arrhythmia	374879	ZNF699	OMIM:619488
HP:0004308	Ventricular arrhythmia	779	CACNA1S	OMIM:188580
HP:0004308	Ventricular arrhythmia	779	CACNA1S	OMIM:601887
HP:0004308	Ventricular arrhythmia	5498	PPOX	OMIM:176200
HP:0004308	Ventricular arrhythmia	5498	PPOX	ORPHA:79473
HP:0004308	Ventricular arrhythmia	3077	HFE	OMIM:176200
HP:0004308	Ventricular arrhythmia	3145	HMBS	OMIM:176000
HP:0004308	Ventricular arrhythmia	3145	HMBS	ORPHA:79276
HP:0004308	Ventricular arrhythmia	6833	ABCC8	ORPHA:276575
HP:0004308	Ventricular arrhythmia	6261	RYR1	OMIM:145600
HP:0004308	Ventricular arrhythmia	6391	SDHC	OMIM:605373
HP:0004308	Ventricular arrhythmia	745	MYRF	OMIM:618280
HP:0004308	Ventricular arrhythmia	3767	KCNJ11	ORPHA:276580
HP:0004308	Ventricular arrhythmia	8029	CUBN	ORPHA:35858
HP:0004308	Ventricular arrhythmia	81693	AMN	ORPHA:35858
HP:0004308	Ventricular arrhythmia	23630	KCNE5	ORPHA:130
HP:0004308	Ventricular arrhythmia	10371	SEMA3A	ORPHA:130
HP:0004308	Ventricular arrhythmia	54795	TRPM4	ORPHA:130
HP:0004308	Ventricular arrhythmia	10021	HCN4	ORPHA:130
HP:0004308	Ventricular arrhythmia	3764	KCNJ8	ORPHA:130
HP:0004308	Ventricular arrhythmia	3752	KCND3	ORPHA:130
HP:0004308	Ventricular arrhythmia	5318	PKP2	ORPHA:130
HP:0004308	Ventricular arrhythmia	7871	SLMAP	ORPHA:130
HP:0004308	Ventricular arrhythmia	10060	ABCC9	ORPHA:130
HP:0004308	Ventricular arrhythmia	29098	RANGRF	ORPHA:130
HP:0004308	Ventricular arrhythmia	6336	SCN10A	ORPHA:130
HP:0004308	Ventricular arrhythmia	10008	KCNE3	ORPHA:130
HP:0004308	Ventricular arrhythmia	55800	SCN3B	ORPHA:130
HP:0004308	Ventricular arrhythmia	10142	AKAP9	ORPHA:130
HP:0004308	Ventricular arrhythmia	783	CACNB2	ORPHA:130
HP:0004308	Ventricular arrhythmia	6337	SCNN1A	ORPHA:130
HP:0004308	Ventricular arrhythmia	6327	SCN2B	ORPHA:130
HP:0004308	Ventricular arrhythmia	781	CACNA2D1	ORPHA:130
HP:0004308	Ventricular arrhythmia	775	CACNA1C	ORPHA:130
HP:0004308	Ventricular arrhythmia	6324	SCN1B	ORPHA:130
HP:0004308	Ventricular arrhythmia	23171	GPD1L	ORPHA:130
HP:0004308	Ventricular arrhythmia	65082	VPS33A	ORPHA:505248
HP:0004308	Ventricular arrhythmia	1439	CSF2RB	ORPHA:264675
HP:0004308	Ventricular arrhythmia	1438	CSF2RA	ORPHA:264675
HP:0004308	Ventricular arrhythmia	55739	NAXD	OMIM:618321
HP:0004308	Ventricular arrhythmia	442721	LMOD2	OMIM:619897
HP:0004308	Ventricular arrhythmia	9692	PRORP	OMIM:619737
HP:0004308	Ventricular arrhythmia	1889	ECE1	OMIM:613870
HP:0004308	Ventricular arrhythmia	5236	PGM1	OMIM:614921
HP:0004308	Ventricular arrhythmia	100134444	KCNJ18	OMIM:613239
HP:0004308	Ventricular arrhythmia	1371	CPOX	OMIM:121300
HP:0004308	Ventricular arrhythmia	1371	CPOX	ORPHA:79273
HP:0004308	Ventricular arrhythmia	5837	PYGM	ORPHA:368
HP:0004308	Ventricular arrhythmia	37	ACADVL	ORPHA:26793
HP:0004308	Ventricular arrhythmia	3172	HNF4A	ORPHA:263455
HP:0004308	Ventricular arrhythmia	6927	HNF1A	ORPHA:324575
HP:0004308	Ventricular arrhythmia	667	DST	OMIM:614653
HP:0004308	Ventricular arrhythmia	7253	TSHR	OMIM:609152
HP:0004308	Ventricular arrhythmia	7253	TSHR	OMIM:603373
HP:0004308	Ventricular arrhythmia	6736	SRY	ORPHA:1772
HP:0004308	Ventricular arrhythmia	284119	CAVIN1	OMIM:613327
HP:0004308	Ventricular arrhythmia	7351	UCP2	ORPHA:276556
HP:0004308	Ventricular arrhythmia	6440	SFTPC	ORPHA:70587
HP:0004308	Ventricular arrhythmia	21	ABCA3	ORPHA:70587
HP:0004308	Ventricular arrhythmia	6439	SFTPB	ORPHA:70587
HP:0004308	Ventricular arrhythmia	8942	KYNU	ORPHA:79155
HP:0004308	Ventricular arrhythmia	6005	RHAG	ORPHA:71275
HP:0004308	Ventricular arrhythmia	6006	RHCE	ORPHA:71275
HP:0004308	Ventricular arrhythmia	6007	RHD	ORPHA:71275
HP:0004308	Ventricular arrhythmia	51422	PRKAG2	OMIM:261740
HP:0004308	Ventricular arrhythmia	4607	MYBPC3	OMIM:115197
HP:0004308	Ventricular arrhythmia	4634	MYL3	OMIM:608751
HP:0004308	Ventricular arrhythmia	2556	GABRA3	ORPHA:79102
HP:0004308	Ventricular arrhythmia	1717	DHCR7	OMIM:270400
HP:0004308	Ventricular arrhythmia	7134	TNNC1	OMIM:613243
HP:0004308	Ventricular arrhythmia	6508	SLC4A3	ORPHA:51083
HP:0004308	Ventricular arrhythmia	6508	SLC4A3	OMIM:620231
HP:0004308	Ventricular arrhythmia	1804	DPP6	OMIM:612956
HP:0004308	Ventricular arrhythmia	1188	CLCNKB	ORPHA:358
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	OMIM:220400
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	OMIM:192500
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	ORPHA:90647
HP:0004308	Ventricular arrhythmia	801	CALM1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3753	KCNE1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3753	KCNE1	OMIM:613695
HP:0004308	Ventricular arrhythmia	3753	KCNE1	ORPHA:90647
HP:0004308	Ventricular arrhythmia	3753	KCNE1	OMIM:612347
HP:0004308	Ventricular arrhythmia	6910	TBX5	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3757	KCNH2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3757	KCNH2	OMIM:613688
HP:0004308	Ventricular arrhythmia	9992	KCNE2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	9992	KCNE2	OMIM:613693
HP:0004308	Ventricular arrhythmia	9722	NOS1AP	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6330	SCN4B	ORPHA:101016
HP:0004308	Ventricular arrhythmia	808	CALM3	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6640	SNTA1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6640	SNTA1	OMIM:612955
HP:0004308	Ventricular arrhythmia	859	CAV3	ORPHA:101016
HP:0004308	Ventricular arrhythmia	287	ANK2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	8260	NAA10	OMIM:300855
HP:0004308	Ventricular arrhythmia	144245	ALG10B	OMIM:613688
HP:0004308	Ventricular arrhythmia	128989	TANGO2	OMIM:616878
HP:0004308	Ventricular arrhythmia	4512	MT-CO1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4512	MT-CO1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4513	MT-CO2	OMIM:540000
HP:0004308	Ventricular arrhythmia	4513	MT-CO2	ORPHA:550
HP:0004308	Ventricular arrhythmia	4514	MT-CO3	OMIM:540000
HP:0004308	Ventricular arrhythmia	4514	MT-CO3	ORPHA:550
HP:0004308	Ventricular arrhythmia	4511	MT-TC	OMIM:540000
HP:0004308	Ventricular arrhythmia	4574	MT-TS1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4574	MT-TS1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4575	MT-TS2	OMIM:540000
HP:0004308	Ventricular arrhythmia	4575	MT-TS2	ORPHA:550
HP:0004308	Ventricular arrhythmia	4558	MT-TF	OMIM:540000
HP:0004308	Ventricular arrhythmia	4558	MT-TF	ORPHA:550
HP:0004308	Ventricular arrhythmia	4541	MT-ND6	OMIM:540000
HP:0004308	Ventricular arrhythmia	4541	MT-ND6	ORPHA:550
HP:0004308	Ventricular arrhythmia	4567	MT-TL1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4567	MT-TL1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4540	MT-ND5	OMIM:540000
HP:0004308	Ventricular arrhythmia	4540	MT-ND5	ORPHA:550
HP:0004308	Ventricular arrhythmia	4566	MT-TK	OMIM:540000
HP:0004308	Ventricular arrhythmia	4535	MT-ND1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4535	MT-ND1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4572	MT-TQ	OMIM:540000
HP:0004308	Ventricular arrhythmia	4572	MT-TQ	ORPHA:550
HP:0004308	Ventricular arrhythmia	4577	MT-TV	OMIM:540000
HP:0004308	Ventricular arrhythmia	4578	MT-TW	OMIM:540000
HP:0004308	Ventricular arrhythmia	4578	MT-TW	ORPHA:550
HP:0004308	Ventricular arrhythmia	4538	MT-ND4	ORPHA:550
HP:0004308	Ventricular arrhythmia	4564	MT-TH	ORPHA:550
HP:0004308	Ventricular arrhythmia	51103	NDUFAF1	OMIM:618234
HP:0004308	Ventricular arrhythmia	478	ATP1A3	OMIM:601338
HP:0004308	Ventricular arrhythmia	63931	MRPS14	OMIM:618378
HP:0004308	Ventricular arrhythmia	3714	JAG2	OMIM:619566
HP:0004308	Ventricular arrhythmia	7137	TNNI3	OMIM:613690
HP:0004308	Ventricular arrhythmia	7249	TSC2	OMIM:613254
HP:0004308	Ventricular arrhythmia	3458	IFNG	OMIM:613254
HP:0004308	Ventricular arrhythmia	96459	FNIP1	OMIM:619705
HP:0004308	Ventricular arrhythmia	2548	GAA	OMIM:232300
HP:0004308	Ventricular arrhythmia	7248	TSC1	OMIM:191100
HP:0004308	Ventricular arrhythmia	123263	MTFMT	OMIM:614947
HP:0004308	Ventricular arrhythmia	8557	TCAP	OMIM:607487
HP:0004308	Ventricular arrhythmia	84705	GTPBP3	ORPHA:444013
HP:0004308	Ventricular arrhythmia	291	SLC25A4	ORPHA:254892
HP:0004308	Ventricular arrhythmia	5428	POLG	ORPHA:254892
HP:0004308	Ventricular arrhythmia	56652	TWNK	ORPHA:254892
HP:0004308	Ventricular arrhythmia	50484	RRM2B	ORPHA:254892
HP:0004308	Ventricular arrhythmia	5350	PLN	OMIM:609909
HP:0004308	Ventricular arrhythmia	5894	RAF1	OMIM:615916
HP:0004308	Ventricular arrhythmia	7043	TGFB3	OMIM:107970
HP:0004308	Ventricular arrhythmia	1837	DTNA	OMIM:604169
HP:0004308	Ventricular arrhythmia	64072	CDH23	ORPHA:91347
HP:0004308	Ventricular arrhythmia	1824	DSC2	OMIM:610476
HP:0004308	Ventricular arrhythmia	11155	LDB3	OMIM:601493
HP:0004308	Ventricular arrhythmia	84277	DNAJC30	ORPHA:104
HP:0004308	Ventricular arrhythmia	4536	MT-ND2	ORPHA:104
HP:0004308	Ventricular arrhythmia	4720	NDUFS2	ORPHA:104
HP:0004308	Ventricular arrhythmia	4508	MT-ATP6	ORPHA:104
HP:0004308	Ventricular arrhythmia	4539	MT-ND4L	ORPHA:104
HP:0004308	Ventricular arrhythmia	2771	GNAI2	OMIM:192605
HP:0004308	Ventricular arrhythmia	284252	KCTD1	OMIM:181270
HP:0004308	Ventricular arrhythmia	7092	TLL1	ORPHA:99103
HP:0004308	Ventricular arrhythmia	57057	TBX20	ORPHA:99103
HP:0004308	Ventricular arrhythmia	1482	NKX2-5	ORPHA:99103
HP:0004308	Ventricular arrhythmia	2626	GATA4	ORPHA:99103
HP:0004308	Ventricular arrhythmia	2627	GATA6	ORPHA:99103
HP:0004308	Ventricular arrhythmia	9631	NUP155	OMIM:615770
HP:0004308	Ventricular arrhythmia	80308	FLAD1	OMIM:255100
HP:0004308	Ventricular arrhythmia	88	ACTN2	OMIM:612158
HP:0004308	Ventricular arrhythmia	4633	MYL2	OMIM:608758
HP:0004308	Ventricular arrhythmia	3920	LAMP2	OMIM:300257
HP:0004308	Ventricular arrhythmia	4624	MYH6	OMIM:613251
HP:0004308	Ventricular arrhythmia	8048	CSRP3	OMIM:612124
HP:0004308	Ventricular arrhythmia	57158	JPH2	OMIM:613873
HP:0004308	Ventricular arrhythmia	788	SLC25A20	OMIM:212138
HP:0004308	Ventricular arrhythmia	788	SLC25A20	ORPHA:159
HP:0004308	Ventricular arrhythmia	1000	CDH2	OMIM:618920
HP:0004308	Ventricular arrhythmia	29119	CTNNA3	OMIM:615616
HP:0004308	Ventricular arrhythmia	7168	TPM1	OMIM:611878
HP:0004308	Ventricular arrhythmia	51778	MYOZ2	OMIM:613838
HP:0004308	Ventricular arrhythmia	1832	DSP	OMIM:605676
HP:0004308	Ventricular arrhythmia	1832	DSP	OMIM:615821
HP:0004308	Ventricular arrhythmia	1832	DSP	OMIM:607450
HP:0004308	Ventricular arrhythmia	1410	CRYAB	OMIM:615184
HP:0004308	Ventricular arrhythmia	2992	GYG1	ORPHA:263297
HP:0004308	Ventricular arrhythmia	1829	DSG2	OMIM:610193
HP:0004308	Ventricular arrhythmia	70	ACTC1	OMIM:612098
HP:0004308	Ventricular arrhythmia	1376	CPT2	OMIM:600649
HP:0004308	Ventricular arrhythmia	6559	SLC12A3	OMIM:263800
HP:0004308	Ventricular arrhythmia	4625	MYH7	OMIM:613426
HP:0004308	Ventricular arrhythmia	9529	BAG5	OMIM:619747
HP:0004308	Ventricular arrhythmia	56244	BTNL2	ORPHA:797
HP:0004308	Ventricular arrhythmia	3123	HLA-DRB1	ORPHA:797
HP:0004308	Ventricular arrhythmia	3728	JUP	OMIM:611528
HP:0004308	Ventricular arrhythmia	650	BMP2	OMIM:617877
HP:0004308	Ventricular arrhythmia	51086	TNNI3K	OMIM:616117
HP:0004308	Ventricular arrhythmia	6331	SCN5A	ORPHA:1344
HP:0004308	Ventricular arrhythmia	6331	SCN5A	OMIM:608567
HP:0004308	Ventricular arrhythmia	4878	NPPA	ORPHA:1344
HP:0004308	Ventricular arrhythmia	2702	GJA5	OMIM:108770
HP:0004308	Ventricular arrhythmia	4000	LMNA	ORPHA:98855
HP:0004308	Ventricular arrhythmia	4000	LMNA	ORPHA:98853
HP:0004308	Ventricular arrhythmia	10681	GNB5	ORPHA:542306
HP:0004308	Ventricular arrhythmia	151648	SGO1	OMIM:616201
HP:0004308	Ventricular arrhythmia	2273	FHL1	ORPHA:98863
HP:0004308	Ventricular arrhythmia	2010	EMD	ORPHA:98863
HP:0004308	Ventricular arrhythmia	79188	TMEM43	ORPHA:98853
HP:0004308	Ventricular arrhythmia	23345	SYNE1	ORPHA:98853
HP:0004308	Ventricular arrhythmia	23224	SYNE2	ORPHA:98853
HP:0004308	Ventricular arrhythmia	10560	SLC19A2	ORPHA:49827
HP:0004308	Ventricular arrhythmia	161742	SPRED1	ORPHA:137605
HP:0004308	Ventricular arrhythmia	4784	NFIX	OMIM:602535
HP:0004308	Ventricular arrhythmia	26092	TOR1AIP1	OMIM:617072
HP:0004308	Ventricular arrhythmia	7716	VEZF1	OMIM:620247
HP:0004308	Ventricular arrhythmia	83475	DOHH	OMIM:620066
HP:0004308	Ventricular arrhythmia	3762	KCNJ5	ORPHA:37553
HP:0004308	Ventricular arrhythmia	1788	DNMT3A	ORPHA:404443
HP:0004308	Ventricular arrhythmia	4519	MT-CYB	ORPHA:137675
HP:0004308	Ventricular arrhythmia	1349	COX7B	OMIM:309801
HP:0004308	Ventricular arrhythmia	3052	HCCS	OMIM:309801
HP:0004308	Ventricular arrhythmia	54539	NDUFB11	OMIM:309801
HP:0004308	Ventricular arrhythmia	10370	CITED2	ORPHA:99105
HP:0004308	Ventricular arrhythmia	7273	TTN	OMIM:611705
HP:0004308	Ventricular arrhythmia	6262	RYR2	OMIM:604772
HP:0004308	Ventricular arrhythmia	845	CASQ2	OMIM:604772
HP:0004308	Ventricular arrhythmia	10345	TRDN	OMIM:604772
HP:0004308	Ventricular arrhythmia	253017	TECRL	OMIM:614021
HP:0004308	Ventricular arrhythmia	805	CALM2	OMIM:616249
HP:0004308	Ventricular arrhythmia	11232	POLG2	OMIM:610131
HP:0004311	Abnormal macrophage morphology	6609	SMPD1	OMIM:607616
HP:0004311	Abnormal macrophage morphology	6609	SMPD1	OMIM:257200
HP:0004311	Abnormal macrophage morphology	10577	NPC2	OMIM:607625
HP:0004311	Abnormal macrophage morphology	2720	GLB1	OMIM:230600
HP:0004311	Abnormal macrophage morphology	348	APOE	ORPHA:158029
HP:0004311	Abnormal macrophage morphology	348	APOE	OMIM:269600
HP:0004311	Abnormal macrophage morphology	4864	NPC1	OMIM:257220
HP:0004311	Abnormal macrophage morphology	4688	NCF2	OMIM:233710
HP:0004311	Abnormal macrophage morphology	1536	CYBB	OMIM:306400
HP:0004311	Abnormal macrophage morphology	653361	NCF1	OMIM:233700
HP:0004311	Abnormal macrophage morphology	1535	CYBA	OMIM:233690
HP:0004311	Abnormal macrophage morphology	1493	CTLA4	ORPHA:900
HP:0004311	Abnormal macrophage morphology	26191	PTPN22	ORPHA:900
HP:0004311	Abnormal macrophage morphology	3115	HLA-DPB1	ORPHA:900
HP:0004311	Abnormal macrophage morphology	5657	PRTN3	ORPHA:900
HP:0004311	Abnormal macrophage morphology	3113	HLA-DPA1	ORPHA:900
HP:0004311	Abnormal macrophage morphology	6445	SGCG	ORPHA:353
HP:0004311	Abnormal macrophage morphology	219285	SAMD9L	ORPHA:2585
HP:0004311	Abnormal macrophage morphology	3988	LIPA	OMIM:278000
HP:0004311	Abnormal macrophage morphology	3988	LIPA	ORPHA:75233
HP:0004311	Abnormal macrophage morphology	4758	NEU1	OMIM:256550
HP:0004311	Abnormal macrophage morphology	9056	SLC7A7	ORPHA:470
HP:0004311	Abnormal macrophage morphology	9056	SLC7A7	OMIM:222700
HP:0004311	Abnormal macrophage morphology	201294	UNC13D	OMIM:608898
HP:0004311	Abnormal macrophage morphology	201294	UNC13D	ORPHA:540
HP:0004311	Abnormal macrophage morphology	5873	RAB27A	OMIM:607624
HP:0004311	Abnormal macrophage morphology	5873	RAB27A	ORPHA:79477
HP:0004311	Abnormal macrophage morphology	84868	HAVCR2	ORPHA:86884
HP:0004311	Abnormal macrophage morphology	84868	HAVCR2	OMIM:618398
HP:0004311	Abnormal macrophage morphology	3702	ITK	OMIM:613011
HP:0004311	Abnormal macrophage morphology	331	XIAP	OMIM:300635
HP:0004311	Abnormal macrophage morphology	331	XIAP	OMIM:308240
HP:0004311	Abnormal macrophage morphology	1777	DNASE2	OMIM:619858
HP:0004311	Abnormal macrophage morphology	3717	JAK2	OMIM:254450
HP:0004311	Abnormal macrophage morphology	10019	SH2B3	OMIM:254450
HP:0004311	Abnormal macrophage morphology	811	CALR	OMIM:254450
HP:0004311	Abnormal macrophage morphology	4352	MPL	OMIM:254450
HP:0004311	Abnormal macrophage morphology	3458	IFNG	OMIM:618963
HP:0004311	Abnormal macrophage morphology	51311	TLR8	OMIM:301078
HP:0004311	Abnormal macrophage morphology	1130	LYST	ORPHA:167
HP:0004311	Abnormal macrophage morphology	1130	LYST	OMIM:214500
HP:0004311	Abnormal macrophage morphology	5551	PRF1	ORPHA:540
HP:0004311	Abnormal macrophage morphology	5551	PRF1	OMIM:603553
HP:0004311	Abnormal macrophage morphology	8676	STX11	ORPHA:540
HP:0004311	Abnormal macrophage morphology	8676	STX11	OMIM:603552
HP:0004311	Abnormal macrophage morphology	6813	STXBP2	ORPHA:540
HP:0004311	Abnormal macrophage morphology	6813	STXBP2	OMIM:613101
HP:0004311	Abnormal macrophage morphology	57169	ZNFX1	OMIM:619644
HP:0004311	Abnormal macrophage morphology	939	CD27	OMIM:615122
HP:0004311	Abnormal macrophage morphology	5294	PIK3CG	OMIM:619802
HP:0004311	Abnormal macrophage morphology	4068	SH2D1A	OMIM:308240
HP:0004311	Abnormal macrophage morphology	427	ASAH1	OMIM:228000
HP:0004311	Abnormal macrophage morphology	3459	IFNGR1	OMIM:209950
HP:0004311	Abnormal macrophage morphology	55315	SLC29A3	OMIM:602782
HP:0004311	Abnormal macrophage morphology	55315	SLC29A3	ORPHA:168569
HP:0004311	Abnormal macrophage morphology	2859	GPR35	ORPHA:171
HP:0004311	Abnormal macrophage morphology	10507	SEMA4D	ORPHA:171
HP:0004311	Abnormal macrophage morphology	4485	MST1	ORPHA:171
HP:0004311	Abnormal macrophage morphology	6925	TCF4	ORPHA:171
HP:0004312	Abnormal reticulocyte morphology	114803	MYSM1	ORPHA:508542
HP:0004312	Abnormal reticulocyte morphology	6135	RPL11	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6138	RPL15	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6138	RPL15	OMIM:615550
HP:0004312	Abnormal reticulocyte morphology	6229	RPS24	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6229	RPS24	OMIM:610629
HP:0004312	Abnormal reticulocyte morphology	6125	RPL5	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6204	RPS10	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6224	RPS20	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6165	RPL35A	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6165	RPL35A	OMIM:612528
HP:0004312	Abnormal reticulocyte morphology	6223	RPS19	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6223	RPS19	OMIM:105650
HP:0004312	Abnormal reticulocyte morphology	6232	RPS27	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6231	RPS26	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6231	RPS26	OMIM:613309
HP:0004312	Abnormal reticulocyte morphology	11224	RPL35	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6160	RPL31	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6218	RPS17	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6218	RPS17	OMIM:612527
HP:0004312	Abnormal reticulocyte morphology	6201	RPS7	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6155	RPL27	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6154	RPL26	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6210	RPS15A	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	90121	TSR2	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6141	RPL18	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6235	RPS29	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6234	RPS28	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	51816	ADA2	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	2177	FANCD2	OMIM:227646
HP:0004312	Abnormal reticulocyte morphology	3458	IFNG	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	5551	PRF1	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	7012	TERC	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	51119	SBDS	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	7015	TERT	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	2176	FANCC	OMIM:227645
HP:0004312	Abnormal reticulocyte morphology	2178	FANCE	OMIM:600901
HP:0004312	Abnormal reticulocyte morphology	55240	STEAP3	ORPHA:300298
HP:0004312	Abnormal reticulocyte morphology	2175	FANCA	OMIM:227650
HP:0004312	Abnormal reticulocyte morphology	6948	TCN2	OMIM:275350
HP:0004312	Abnormal reticulocyte morphology	3043	HBB	ORPHA:232
HP:0004312	Abnormal reticulocyte morphology	3043	HBB	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	355	FAS	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	356	FASLG	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	5580	PRKCD	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	843	CASP10	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	10125	RASGRP1	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:185020
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:611590
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:612653
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	3783	KCNN4	OMIM:616689
HP:0004312	Abnormal reticulocyte morphology	3783	KCNN4	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	8573	CASK	OMIM:300908
HP:0004312	Abnormal reticulocyte morphology	2539	G6PD	OMIM:300908
HP:0004312	Abnormal reticulocyte morphology	84529	CDIN1	OMIM:615631
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	OMIM:616649
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	6513	SLC2A1	OMIM:612126
HP:0004312	Abnormal reticulocyte morphology	3048	HBG2	OMIM:613977
HP:0004312	Abnormal reticulocyte morphology	3048	HBG2	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10058	ABCB6	ORPHA:90044
HP:0004312	Abnormal reticulocyte morphology	9780	PIEZO1	OMIM:194380
HP:0004312	Abnormal reticulocyte morphology	9780	PIEZO1	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	286	ANK1	OMIM:182900
HP:0004312	Abnormal reticulocyte morphology	286	ANK1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	2038	EPB42	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	2038	EPB42	OMIM:612690
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	OMIM:130600
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	53335	BCL11A	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10661	KLF1	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10661	KLF1	OMIM:613673
HP:0004312	Abnormal reticulocyte morphology	3047	HBG1	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10483	SEC23B	OMIM:224100
HP:0004312	Abnormal reticulocyte morphology	374354	NHLRC2	OMIM:618278
HP:0004312	Abnormal reticulocyte morphology	3098	HK1	OMIM:235700
HP:0004312	Abnormal reticulocyte morphology	11093	ADAMTS13	OMIM:274150
HP:0004312	Abnormal reticulocyte morphology	2729	GCLC	ORPHA:33574
HP:0004312	Abnormal reticulocyte morphology	8029	CUBN	ORPHA:35858
HP:0004312	Abnormal reticulocyte morphology	81693	AMN	ORPHA:35858
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	OMIM:185000
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	ORPHA:3203
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	5230	PGK1	OMIM:300653
HP:0004312	Abnormal reticulocyte morphology	5230	PGK1	ORPHA:713
HP:0004312	Abnormal reticulocyte morphology	1186	CLCN7	OMIM:611490
HP:0004312	Abnormal reticulocyte morphology	5213	PFKM	OMIM:232800
HP:0004312	Abnormal reticulocyte morphology	64241	ABCG8	OMIM:210250
HP:0004312	Abnormal reticulocyte morphology	5313	PKLR	ORPHA:766
HP:0004312	Abnormal reticulocyte morphology	5313	PKLR	OMIM:266200
HP:0004312	Abnormal reticulocyte morphology	5277	PIGA	ORPHA:447
HP:0004312	Abnormal reticulocyte morphology	2035	EPB41	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	2995	GYPC	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	4547	MTTP	ORPHA:14
HP:0004312	Abnormal reticulocyte morphology	1371	CPOX	OMIM:618892
HP:0004312	Abnormal reticulocyte morphology	146059	CDAN1	OMIM:224120
HP:0004312	Abnormal reticulocyte morphology	7390	UROS	ORPHA:79277
HP:0004312	Abnormal reticulocyte morphology	3075	CFH	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	3078	CFHR1	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	10878	CFHR3	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	6006	RHCE	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	6007	RHD	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	2623	GATA1	OMIM:300835
HP:0004313	Decreased circulating antibody level	10526	IPO8	OMIM:619472
HP:0004313	Decreased circulating antibody level	83737	ITCH	OMIM:613385
HP:0004313	Decreased circulating antibody level	84905	ZNF341	OMIM:618282
HP:0004313	Decreased circulating antibody level	3117	HLA-DQA1	OMIM:212750
HP:0004313	Decreased circulating antibody level	3119	HLA-DQB1	OMIM:212750
HP:0004313	Decreased circulating antibody level	2475	MTOR	ORPHA:457485
HP:0004313	Decreased circulating antibody level	2475	MTOR	OMIM:616638
HP:0004313	Decreased circulating antibody level	284119	CAVIN1	OMIM:613327
HP:0004313	Decreased circulating antibody level	57511	COG6	OMIM:614576
HP:0004313	Decreased circulating antibody level	84061	MAGT1	OMIM:300853
HP:0004313	Decreased circulating antibody level	3559	IL2RA	OMIM:606367
HP:0004313	Decreased circulating antibody level	7454	WAS	OMIM:301000
HP:0004313	Decreased circulating antibody level	51604	PIGT	ORPHA:369837
HP:0004313	Decreased circulating antibody level	3543	IGLL1	OMIM:613500
HP:0004313	Decreased circulating antibody level	5336	PLCG2	OMIM:614878
HP:0004313	Decreased circulating antibody level	28956	LAMTOR2	OMIM:610798
HP:0004313	Decreased circulating antibody level	23387	SIK3	OMIM:618162
HP:0004313	Decreased circulating antibody level	51816	ADA2	OMIM:182410
HP:0004313	Decreased circulating antibody level	5426	POLE	OMIM:615139
HP:0004313	Decreased circulating antibody level	81704	DOCK8	OMIM:243700
HP:0004313	Decreased circulating antibody level	6773	STAT2	OMIM:616636
HP:0004313	Decreased circulating antibody level	4683	NBN	OMIM:251260
HP:0004313	Decreased circulating antibody level	6499	SKIC2	ORPHA:84064
HP:0004313	Decreased circulating antibody level	50615	IL21R	OMIM:615207
HP:0004313	Decreased circulating antibody level	404672	GTF2H5	ORPHA:33364
HP:0004313	Decreased circulating antibody level	833	CARS1	ORPHA:33364
HP:0004313	Decreased circulating antibody level	136647	MPLKIP	ORPHA:33364
HP:0004313	Decreased circulating antibody level	6897	TARS1	ORPHA:33364
HP:0004313	Decreased circulating antibody level	2071	ERCC3	ORPHA:33364
HP:0004313	Decreased circulating antibody level	2961	GTF2E2	ORPHA:33364
HP:0004313	Decreased circulating antibody level	10159	ATP6AP2	OMIM:301045
HP:0004313	Decreased circulating antibody level	83483	PLVAP	OMIM:618183
HP:0004313	Decreased circulating antibody level	51750	RTEL1	OMIM:615190
HP:0004313	Decreased circulating antibody level	3551	IKBKB	OMIM:615592
HP:0004313	Decreased circulating antibody level	5728	PTEN	OMIM:605309
HP:0004313	Decreased circulating antibody level	5728	PTEN	OMIM:158350
HP:0004313	Decreased circulating antibody level	100151683	RNU4ATAC	ORPHA:353298
HP:0004313	Decreased circulating antibody level	113235	SLC46A1	ORPHA:90045
HP:0004313	Decreased circulating antibody level	2316	FLNA	ORPHA:99811
HP:0004313	Decreased circulating antibody level	5551	PRF1	ORPHA:540
HP:0004313	Decreased circulating antibody level	8676	STX11	ORPHA:540
HP:0004313	Decreased circulating antibody level	201294	UNC13D	ORPHA:540
HP:0004313	Decreased circulating antibody level	6813	STXBP2	ORPHA:540
HP:0004313	Decreased circulating antibody level	6813	STXBP2	OMIM:613101
HP:0004313	Decreased circulating antibody level	4522	MTHFD1	OMIM:617780
HP:0004313	Decreased circulating antibody level	939	CD27	OMIM:615122
HP:0004313	Decreased circulating antibody level	4790	NFKB1	OMIM:616576
HP:0004313	Decreased circulating antibody level	4790	NFKB1	ORPHA:1572
HP:0004313	Decreased circulating antibody level	114803	MYSM1	OMIM:618116
HP:0004313	Decreased circulating antibody level	79840	NHEJ1	ORPHA:169079
HP:0004313	Decreased circulating antibody level	5994	RFXAP	ORPHA:572
HP:0004313	Decreased circulating antibody level	4261	CIITA	ORPHA:572
HP:0004313	Decreased circulating antibody level	5993	RFX5	ORPHA:572
HP:0004313	Decreased circulating antibody level	8625	RFXANK	ORPHA:572
HP:0004313	Decreased circulating antibody level	6023	RMRP	ORPHA:175
HP:0004313	Decreased circulating antibody level	7037	TFRC	OMIM:616740
HP:0004313	Decreased circulating antibody level	4125	MAN2B1	OMIM:248500
HP:0004313	Decreased circulating antibody level	10111	RAD50	OMIM:613078
HP:0004313	Decreased circulating antibody level	9839	ZEB2	ORPHA:261552
HP:0004313	Decreased circulating antibody level	9839	ZEB2	ORPHA:261537
HP:0004313	Decreased circulating antibody level	4478	MSN	OMIM:300988
HP:0004313	Decreased circulating antibody level	3070	HELLS	ORPHA:2268
HP:0004313	Decreased circulating antibody level	3070	HELLS	OMIM:616911
HP:0004313	Decreased circulating antibody level	1789	DNMT3B	ORPHA:2268
HP:0004313	Decreased circulating antibody level	83879	CDCA7	ORPHA:2268
HP:0004313	Decreased circulating antibody level	83879	CDCA7	OMIM:616910
HP:0004313	Decreased circulating antibody level	10320	IKZF1	OMIM:616873
HP:0004313	Decreased circulating antibody level	8742	TNFSF12	ORPHA:1572
HP:0004313	Decreased circulating antibody level	9056	SLC7A7	ORPHA:470
HP:0004313	Decreased circulating antibody level	57217	TTC7A	OMIM:243150
HP:0004313	Decreased circulating antibody level	595	CCND1	ORPHA:29073
HP:0004313	Decreased circulating antibody level	51095	TRNT1	OMIM:616084
HP:0004313	Decreased circulating antibody level	6774	STAT3	OMIM:615952
HP:0004313	Decreased circulating antibody level	9508	ADAMTS3	ORPHA:2136
HP:0004313	Decreased circulating antibody level	147372	CCBE1	ORPHA:2136
HP:0004313	Decreased circulating antibody level	79633	FAT4	ORPHA:2136
HP:0004313	Decreased circulating antibody level	3507	IGHM	OMIM:601495
HP:0004313	Decreased circulating antibody level	493856	CISD2	OMIM:604928
HP:0004313	Decreased circulating antibody level	8915	BCL10	OMIM:616098
HP:0004313	Decreased circulating antibody level	4780	NFE2L2	OMIM:617744
HP:0004313	Decreased circulating antibody level	6117	RPA1	OMIM:619767
HP:0004313	Decreased circulating antibody level	10165	SLC25A13	ORPHA:247598
HP:0004313	Decreased circulating antibody level	50485	SMARCAL1	OMIM:242900
HP:0004313	Decreased circulating antibody level	4938	OAS1	OMIM:618042
HP:0004313	Decreased circulating antibody level	7157	TP53	OMIM:618165
HP:0004313	Decreased circulating antibody level	9652	SKIC3	OMIM:222470
HP:0004313	Decreased circulating antibody level	27040	LAT	OMIM:617514
HP:0004313	Decreased circulating antibody level	9939	RBM8A	OMIM:274000
HP:0004313	Decreased circulating antibody level	1604	CD55	OMIM:226300
HP:0004313	Decreased circulating antibody level	3852	KRT5	ORPHA:79396
HP:0004313	Decreased circulating antibody level	3861	KRT14	ORPHA:79396
HP:0004313	Decreased circulating antibody level	219285	SAMD9L	ORPHA:2585
HP:0004313	Decreased circulating antibody level	204	AK2	ORPHA:33355
HP:0004313	Decreased circulating antibody level	2137	EXTL3	ORPHA:508533
HP:0004313	Decreased circulating antibody level	3561	IL2RG	ORPHA:276
HP:0004313	Decreased circulating antibody level	3561	IL2RG	OMIM:312863
HP:0004313	Decreased circulating antibody level	3561	IL2RG	OMIM:300400
HP:0004313	Decreased circulating antibody level	355	FAS	ORPHA:3261
HP:0004313	Decreased circulating antibody level	356	FASLG	ORPHA:3261
HP:0004313	Decreased circulating antibody level	5580	PRKCD	ORPHA:3261
HP:0004313	Decreased circulating antibody level	843	CASP10	ORPHA:3261
HP:0004313	Decreased circulating antibody level	10125	RASGRP1	ORPHA:3261
HP:0004313	Decreased circulating antibody level	10125	RASGRP1	OMIM:618534
HP:0004313	Decreased circulating antibody level	64421	DCLRE1C	ORPHA:275
HP:0004313	Decreased circulating antibody level	10043	TOM1	OMIM:619510
HP:0004313	Decreased circulating antibody level	3572	IL6ST	OMIM:619752
HP:0004313	Decreased circulating antibody level	3702	ITK	OMIM:613011
HP:0004313	Decreased circulating antibody level	115650	TNFRSF13C	OMIM:613494
HP:0004313	Decreased circulating antibody level	115650	TNFRSF13C	OMIM:240500
HP:0004313	Decreased circulating antibody level	5295	PIK3R1	OMIM:616005
HP:0004313	Decreased circulating antibody level	9841	ZBTB24	OMIM:614069
HP:0004313	Decreased circulating antibody level	3932	LCK	OMIM:615758
HP:0004313	Decreased circulating antibody level	6948	TCN2	OMIM:275350
HP:0004313	Decreased circulating antibody level	6948	TCN2	ORPHA:859
HP:0004313	Decreased circulating antibody level	3570	IL6R	OMIM:618944
HP:0004313	Decreased circulating antibody level	987	LRBA	OMIM:614700
HP:0004313	Decreased circulating antibody level	8517	IKBKG	OMIM:301081
HP:0004313	Decreased circulating antibody level	959	CD40LG	OMIM:308230
HP:0004313	Decreased circulating antibody level	4796	TONSL	OMIM:271510
HP:0004313	Decreased circulating antibody level	4247	MGAT2	ORPHA:79329
HP:0004313	Decreased circulating antibody level	7555	CNBP	OMIM:602668
HP:0004313	Decreased circulating antibody level	1457	CSNK2A1	OMIM:617062
HP:0004313	Decreased circulating antibody level	57379	AICDA	OMIM:605258
HP:0004313	Decreased circulating antibody level	374354	NHLRC2	OMIM:618278
HP:0004313	Decreased circulating antibody level	60468	BACH2	OMIM:618394
HP:0004313	Decreased circulating antibody level	974	CD79B	OMIM:612692
HP:0004313	Decreased circulating antibody level	5788	PTPRC	OMIM:619924
HP:0004313	Decreased circulating antibody level	11005	SPINK5	OMIM:256500
HP:0004313	Decreased circulating antibody level	641	BLM	OMIM:210900
HP:0004313	Decreased circulating antibody level	641	BLM	ORPHA:125
HP:0004313	Decreased circulating antibody level	841	CASP8	OMIM:607271
HP:0004313	Decreased circulating antibody level	472	ATM	OMIM:208900
HP:0004313	Decreased circulating antibody level	59067	IL21	OMIM:615767
HP:0004313	Decreased circulating antibody level	29760	BLNK	OMIM:613502
HP:0004313	Decreased circulating antibody level	5294	PIK3CG	OMIM:619802
HP:0004313	Decreased circulating antibody level	7841	MOGS	ORPHA:79330
HP:0004313	Decreased circulating antibody level	3718	JAK3	ORPHA:35078
HP:0004313	Decreased circulating antibody level	331	XIAP	OMIM:308240
HP:0004313	Decreased circulating antibody level	4068	SH2D1A	OMIM:308240
HP:0004313	Decreased circulating antibody level	29851	ICOS	OMIM:607594
HP:0004313	Decreased circulating antibody level	29851	ICOS	OMIM:240500
HP:0004313	Decreased circulating antibody level	7298	TYMS	OMIM:620040
HP:0004313	Decreased circulating antibody level	57724	EPG5	OMIM:242840
HP:0004313	Decreased circulating antibody level	57724	EPG5	ORPHA:1493
HP:0004313	Decreased circulating antibody level	915	CD3D	ORPHA:169160
HP:0004313	Decreased circulating antibody level	916	CD3E	ORPHA:169160
HP:0004313	Decreased circulating antibody level	919	CD247	ORPHA:169160
HP:0004313	Decreased circulating antibody level	65082	VPS33A	ORPHA:505248
HP:0004313	Decreased circulating antibody level	5966	REL	OMIM:619652
HP:0004313	Decreased circulating antibody level	55687	TRMU	OMIM:613070
HP:0004313	Decreased circulating antibody level	23495	TNFRSF13B	OMIM:240500
HP:0004313	Decreased circulating antibody level	930	CD19	OMIM:240500
HP:0004313	Decreased circulating antibody level	3978	LIG1	OMIM:619774
HP:0004313	Decreased circulating antibody level	6651	SON	ORPHA:500150
HP:0004313	Decreased circulating antibody level	1493	CTLA4	OMIM:616100
HP:0004313	Decreased circulating antibody level	4791	NFKB2	OMIM:615577
HP:0004313	Decreased circulating antibody level	7852	CXCR4	OMIM:193670
HP:0004313	Decreased circulating antibody level	5896	RAG1	ORPHA:331206
HP:0004313	Decreased circulating antibody level	5896	RAG1	OMIM:233650
HP:0004313	Decreased circulating antibody level	5897	RAG2	ORPHA:331206
HP:0004313	Decreased circulating antibody level	5897	RAG2	OMIM:233650
HP:0004313	Decreased circulating antibody level	8792	TNFRSF11A	OMIM:612301
HP:0004313	Decreased circulating antibody level	5557	PRIM1	OMIM:620005
HP:0004313	Decreased circulating antibody level	3431	SP110	OMIM:235550
HP:0004313	Decreased circulating antibody level	51311	TLR8	OMIM:301078
HP:0004313	Decreased circulating antibody level	2068	ERCC2	OMIM:601675
HP:0004313	Decreased circulating antibody level	7374	UNG	OMIM:608106
HP:0004313	Decreased circulating antibody level	958	CD40	OMIM:606843
HP:0004313	Decreased circulating antibody level	567	B2M	OMIM:241600
HP:0004313	Decreased circulating antibody level	8884	SLC5A6	OMIM:618973
HP:0004313	Decreased circulating antibody level	96459	FNIP1	OMIM:619705
HP:0004313	Decreased circulating antibody level	359948	IRF2BP2	OMIM:617765
HP:0004313	Decreased circulating antibody level	6688	SPI1	OMIM:619707
HP:0004313	Decreased circulating antibody level	9138	ARHGEF1	OMIM:618459
HP:0004313	Decreased circulating antibody level	84888	SPPL2A	OMIM:619549
HP:0004313	Decreased circulating antibody level	6929	TCF3	OMIM:619824
HP:0004313	Decreased circulating antibody level	165918	RNF168	OMIM:611943
HP:0004313	Decreased circulating antibody level	165918	RNF168	ORPHA:420741
HP:0004313	Decreased circulating antibody level	8883	NAE1	OMIM:620210
HP:0004313	Decreased circulating antibody level	5373	PMM2	OMIM:212065
HP:0004313	Decreased circulating antibody level	7922	SLC39A7	OMIM:619693
HP:0004313	Decreased circulating antibody level	1678	TIMM8A	ORPHA:52368
HP:0004313	Decreased circulating antibody level	56262	LRRC8A	OMIM:613506
HP:0004313	Decreased circulating antibody level	56262	LRRC8A	ORPHA:33110
HP:0004313	Decreased circulating antibody level	100	ADA	OMIM:102700
HP:0004313	Decreased circulating antibody level	56259	CTNNBL1	OMIM:619846
HP:0004313	Decreased circulating antibody level	975	CD81	OMIM:613496
HP:0004313	Decreased circulating antibody level	1503	CTPS1	OMIM:615897
HP:0004313	Decreased circulating antibody level	7535	ZAP70	OMIM:617006
HP:0004313	Decreased circulating antibody level	5293	PIK3CD	OMIM:615513
HP:0004313	Decreased circulating antibody level	3514	IGKC	ORPHA:183675
HP:0004313	Decreased circulating antibody level	3501	IGHG2	ORPHA:183675
HP:0004313	Decreased circulating antibody level	6850	SYK	OMIM:619381
HP:0004313	Decreased circulating antibody level	10625	IVNS1ABP	OMIM:618969
HP:0004313	Decreased circulating antibody level	537	ATP6AP1	OMIM:300972
HP:0004313	Decreased circulating antibody level	90417	KNSTRN	ORPHA:221139
HP:0004313	Decreased circulating antibody level	931	MS4A1	OMIM:613495
HP:0004313	Decreased circulating antibody level	64135	IFIH1	OMIM:619773
HP:0004313	Decreased circulating antibody level	30011	SH3KBP1	OMIM:300310
HP:0004313	Decreased circulating antibody level	146206	CARMIL2	OMIM:618131
HP:0004313	Decreased circulating antibody level	917	CD3G	OMIM:615607
HP:0004313	Decreased circulating antibody level	7737	RNF113A	OMIM:300953
HP:0004313	Decreased circulating antibody level	1380	CR2	OMIM:614699
HP:0004313	Decreased circulating antibody level	55343	SLC35C1	ORPHA:99843
HP:0004313	Decreased circulating antibody level	973	CD79A	OMIM:613501
HP:0004313	Decreased circulating antibody level	10892	MALT1	OMIM:615468
HP:0004313	Decreased circulating antibody level	970	CD70	OMIM:618261
HP:0004313	Decreased circulating antibody level	8737	RIPK1	OMIM:618108
HP:0004313	Decreased circulating antibody level	84433	CARD11	OMIM:616452
HP:0004313	Decreased circulating antibody level	11151	CORO1A	OMIM:615401
HP:0004313	Decreased circulating antibody level	10525	HYOU1	OMIM:233600
HP:0004313	Decreased circulating antibody level	695	BTK	OMIM:300755
HP:0004313	Decreased circulating antibody level	5880	RAC2	OMIM:618986
HP:0004313	Decreased circulating antibody level	54440	SASH3	OMIM:301082
HP:0004313	Decreased circulating antibody level	79087	ALG12	ORPHA:79324
HP:0004320	Vaginal fistula	9361	LONP1	OMIM:600373
HP:0004320	Vaginal fistula	57167	SALL4	OMIM:147750
HP:0004320	Vaginal fistula	57167	SALL4	ORPHA:2307
HP:0004320	Vaginal fistula	92002	CCNQ	OMIM:300707
HP:0004320	Vaginal fistula	8195	MKKS	OMIM:236700
HP:0004320	Vaginal fistula	3588	IL10RB	OMIM:612567
HP:0004320	Vaginal fistula	3110	MNX1	OMIM:176450
HP:0004320	Vaginal fistula	26123	TCTN3	ORPHA:2753
HP:0004320	Vaginal fistula	10653	SPINT2	OMIM:270420
HP:0004320	Vaginal fistula	84172	POLR1B	ORPHA:861
HP:0004320	Vaginal fistula	9533	POLR1C	ORPHA:861
HP:0004320	Vaginal fistula	51082	POLR1D	ORPHA:861
HP:0004320	Vaginal fistula	6949	TCOF1	ORPHA:861
HP:0004320	Vaginal fistula	9401	RECQL4	OMIM:218600
HP:0004320	Vaginal fistula	197131	UBR1	OMIM:243800
HP:0004320	Vaginal fistula	6299	SALL1	OMIM:107480
HP:0004320	Vaginal fistula	6299	SALL1	ORPHA:857
HP:0004320	Vaginal fistula	267010	RNU12	OMIM:603116
HP:0004320	Vaginal fistula	374654	KIF7	OMIM:200990
HP:0004320	Vaginal fistula	51339	DACT1	OMIM:617466
HP:0004320	Vaginal fistula	51339	DACT1	ORPHA:857
HP:0004320	Vaginal fistula	1642	DDB1	OMIM:619426
HP:0004320	Vaginal fistula	3718	JAK3	ORPHA:35078
HP:0004320	Vaginal fistula	158326	FREM1	OMIM:608980
HP:0004320	Vaginal fistula	5297	PI4KA	OMIM:619708
HP:0004320	Vaginal fistula	5447	POR	OMIM:201750
HP:0004320	Vaginal fistula	7355	SLC35A2	OMIM:300896
HP:0004320	Vaginal fistula	6650	CAPN15	OMIM:619318
HP:0004320	Vaginal fistula	55112	DYNC2I1	ORPHA:93271
HP:0004320	Vaginal fistula	57560	IFT80	ORPHA:93271
HP:0004320	Vaginal fistula	57539	WDR35	ORPHA:93271
HP:0004320	Vaginal fistula	79659	DYNC2H1	ORPHA:93271
HP:0004320	Vaginal fistula	89891	DYNC2I2	ORPHA:93271
HP:0004321	Bladder fistula	8195	MKKS	OMIM:236700
HP:0004321	Bladder fistula	5447	POR	OMIM:201750
HP:0004321	Bladder fistula	7355	SLC35A2	OMIM:300896
HP:0004323	Abnormality of body weight	1718	DHCR24	OMIM:602398
HP:0004323	Abnormality of body weight	1718	DHCR24	ORPHA:35107
HP:0004323	Abnormality of body weight	3651	PDX1	OMIM:260370
HP:0004323	Abnormality of body weight	3651	PDX1	ORPHA:99885
HP:0004323	Abnormality of body weight	4524	MTHFR	ORPHA:395
HP:0004323	Abnormality of body weight	6555	SLC10A2	OMIM:613291
HP:0004323	Abnormality of body weight	7428	VHL	OMIM:263400
HP:0004323	Abnormality of body weight	26235	FBXL4	OMIM:615471
HP:0004323	Abnormality of body weight	340533	NEXMIF	OMIM:300912
HP:0004323	Abnormality of body weight	5913	RAPSN	OMIM:616326
HP:0004323	Abnormality of body weight	79827	CLMP	OMIM:615237
HP:0004323	Abnormality of body weight	10059	DNM1L	OMIM:614388
HP:0004323	Abnormality of body weight	5238	PGM3	ORPHA:443811
HP:0004323	Abnormality of body weight	5238	PGM3	OMIM:615816
HP:0004323	Abnormality of body weight	4897	NRCAM	OMIM:619833
HP:0004323	Abnormality of body weight	84334	COA8	ORPHA:436271
HP:0004323	Abnormality of body weight	1131	CHRM3	ORPHA:2970
HP:0004323	Abnormality of body weight	51	ACOX1	ORPHA:2971
HP:0004323	Abnormality of body weight	3909	LAMA3	ORPHA:79404
HP:0004323	Abnormality of body weight	3909	LAMA3	OMIM:226700
HP:0004323	Abnormality of body weight	3918	LAMC2	ORPHA:79404
HP:0004323	Abnormality of body weight	3918	LAMC2	OMIM:226700
HP:0004323	Abnormality of body weight	3914	LAMB3	ORPHA:79404
HP:0004323	Abnormality of body weight	3914	LAMB3	OMIM:226700
HP:0004323	Abnormality of body weight	4552	MTRR	OMIM:236270
HP:0004323	Abnormality of body weight	4552	MTRR	ORPHA:2169
HP:0004323	Abnormality of body weight	197131	UBR1	OMIM:243800
HP:0004323	Abnormality of body weight	197131	UBR1	ORPHA:2315
HP:0004323	Abnormality of body weight	80816	ASXL3	OMIM:615485
HP:0004323	Abnormality of body weight	4141	MARS1	OMIM:615486
HP:0004323	Abnormality of body weight	5651	TMPRSS15	OMIM:226200
HP:0004323	Abnormality of body weight	27245	AHDC1	ORPHA:412069
HP:0004323	Abnormality of body weight	27245	AHDC1	OMIM:615829
HP:0004323	Abnormality of body weight	166378	AFG2A	OMIM:616577
HP:0004323	Abnormality of body weight	5184	PEPD	OMIM:170100
HP:0004323	Abnormality of body weight	84466	MEGF10	OMIM:614399
HP:0004323	Abnormality of body weight	10686	CLDN16	OMIM:248250
HP:0004323	Abnormality of body weight	16	AARS1	OMIM:616339
HP:0004323	Abnormality of body weight	16	AARS1	ORPHA:442835
HP:0004323	Abnormality of body weight	3716	JAK1	OMIM:618999
HP:0004323	Abnormality of body weight	3508	IGHMBP2	OMIM:604320
HP:0004323	Abnormality of body weight	1161	ERCC8	OMIM:216400
HP:0004323	Abnormality of body weight	1161	ERCC8	ORPHA:90321
HP:0004323	Abnormality of body weight	79158	GNPTAB	OMIM:252500
HP:0004323	Abnormality of body weight	7252	TSHB	ORPHA:90674
HP:0004323	Abnormality of body weight	29957	SLC25A24	ORPHA:2963
HP:0004323	Abnormality of body weight	29957	SLC25A24	OMIM:612289
HP:0004323	Abnormality of body weight	2188	FANCF	OMIM:603467
HP:0004323	Abnormality of body weight	284403	WDR62	OMIM:604317
HP:0004323	Abnormality of body weight	8029	CUBN	ORPHA:35858
HP:0004323	Abnormality of body weight	81693	AMN	ORPHA:35858
HP:0004323	Abnormality of body weight	2212	FCGR2A	OMIM:219700
HP:0004323	Abnormality of body weight	7040	TGFB1	OMIM:219700
HP:0004323	Abnormality of body weight	7040	TGFB1	ORPHA:586
HP:0004323	Abnormality of body weight	7040	TGFB1	OMIM:618213
HP:0004323	Abnormality of body weight	1080	CFTR	OMIM:219700
HP:0004323	Abnormality of body weight	1080	CFTR	ORPHA:586
HP:0004323	Abnormality of body weight	6023	RMRP	ORPHA:175
HP:0004323	Abnormality of body weight	6023	RMRP	ORPHA:39041
HP:0004323	Abnormality of body weight	3190	HNRNPK	OMIM:616580
HP:0004323	Abnormality of body weight	4089	SMAD4	OMIM:174900
HP:0004323	Abnormality of body weight	657	BMPR1A	OMIM:174900
HP:0004323	Abnormality of body weight	1777	DNASE2	OMIM:619858
HP:0004323	Abnormality of body weight	1716	DGUOK	OMIM:251880
HP:0004323	Abnormality of body weight	857	CAV1	OMIM:606721
HP:0004323	Abnormality of body weight	857	CAV1	ORPHA:528
HP:0004323	Abnormality of body weight	1594	CYP27B1	OMIM:264700
HP:0004323	Abnormality of body weight	1594	CYP27B1	ORPHA:289157
HP:0004323	Abnormality of body weight	23327	NEDD4L	OMIM:617201
HP:0004323	Abnormality of body weight	5073	PARN	OMIM:616353
HP:0004323	Abnormality of body weight	5073	PARN	ORPHA:3322
HP:0004323	Abnormality of body weight	8550	MAPKAPK5	OMIM:619869
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93926
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93924
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93925
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:220386
HP:0004323	Abnormality of body weight	2253	FGF8	ORPHA:93926
HP:0004323	Abnormality of body weight	2253	FGF8	ORPHA:93924
HP:0004323	Abnormality of body weight	2253	FGF8	ORPHA:93925
HP:0004323	Abnormality of body weight	2253	FGF8	ORPHA:220386
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93926
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93924
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93925
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:220386
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93926
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93924
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93925
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:220386
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93926
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93924
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93925
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:220386
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93926
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93924
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93925
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:220386
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93926
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93924
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93925
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:220386
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93926
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93924
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93925
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:220386
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93926
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93924
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93925
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:220386
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93926
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93924
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93925
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:220386
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93926
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93924
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93925
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:220386
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93926
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93924
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93925
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:220386
HP:0004323	Abnormality of body weight	5727	PTCH1	ORPHA:93926
HP:0004323	Abnormality of body weight	5727	PTCH1	ORPHA:93924
HP:0004323	Abnormality of body weight	5727	PTCH1	ORPHA:93925
HP:0004323	Abnormality of body weight	5727	PTCH1	ORPHA:220386
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93926
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93924
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93925
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:95496
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:220386
HP:0004323	Abnormality of body weight	10125	RASGRP1	OMIM:618534
HP:0004323	Abnormality of body weight	23007	PLCH1	ORPHA:93925
HP:0004323	Abnormality of body weight	10735	STAG2	ORPHA:93925
HP:0004323	Abnormality of body weight	10735	STAG2	OMIM:301022
HP:0004323	Abnormality of body weight	10735	STAG2	ORPHA:220386
HP:0004323	Abnormality of body weight	89910	UBE3B	ORPHA:2707
HP:0004323	Abnormality of body weight	89910	UBE3B	OMIM:244450
HP:0004323	Abnormality of body weight	4645	MYO5B	OMIM:619868
HP:0004323	Abnormality of body weight	10716	TBR1	ORPHA:1617
HP:0004323	Abnormality of body weight	4247	MGAT2	OMIM:212066
HP:0004323	Abnormality of body weight	4247	MGAT2	ORPHA:79329
HP:0004323	Abnormality of body weight	5373	PMM2	OMIM:212065
HP:0004323	Abnormality of body weight	5373	PMM2	ORPHA:79318
HP:0004323	Abnormality of body weight	63901	FAM111A	OMIM:602361
HP:0004323	Abnormality of body weight	26154	ABCA12	OMIM:242500
HP:0004323	Abnormality of body weight	26154	ABCA12	ORPHA:79394
HP:0004323	Abnormality of body weight	11285	B4GALT7	OMIM:130070
HP:0004323	Abnormality of body weight	1187	CLCNKA	OMIM:613090
HP:0004323	Abnormality of body weight	1187	CLCNKA	ORPHA:89938
HP:0004323	Abnormality of body weight	1188	CLCNKB	OMIM:613090
HP:0004323	Abnormality of body weight	1188	CLCNKB	ORPHA:358
HP:0004323	Abnormality of body weight	1188	CLCNKB	ORPHA:89938
HP:0004323	Abnormality of body weight	23126	POGZ	OMIM:616364
HP:0004323	Abnormality of body weight	120227	CYP2R1	ORPHA:289157
HP:0004323	Abnormality of body weight	120227	CYP2R1	OMIM:600081
HP:0004323	Abnormality of body weight	4261	CIITA	OMIM:209920
HP:0004323	Abnormality of body weight	4261	CIITA	ORPHA:572
HP:0004323	Abnormality of body weight	5994	RFXAP	OMIM:209920
HP:0004323	Abnormality of body weight	5994	RFXAP	ORPHA:572
HP:0004323	Abnormality of body weight	5993	RFX5	OMIM:209920
HP:0004323	Abnormality of body weight	5993	RFX5	ORPHA:572
HP:0004323	Abnormality of body weight	8625	RFXANK	OMIM:209920
HP:0004323	Abnormality of body weight	8625	RFXANK	ORPHA:572
HP:0004323	Abnormality of body weight	92609	TIMM50	OMIM:617698
HP:0004323	Abnormality of body weight	92609	TIMM50	ORPHA:505216
HP:0004323	Abnormality of body weight	51692	CPSF3	OMIM:619876
HP:0004323	Abnormality of body weight	5590	PRKCZ	ORPHA:1606
HP:0004323	Abnormality of body weight	2563	GABRD	ORPHA:1606
HP:0004323	Abnormality of body weight	23013	SPEN	ORPHA:1606
HP:0004323	Abnormality of body weight	8510	MMP23B	ORPHA:1606
HP:0004323	Abnormality of body weight	7798	LUZP1	ORPHA:1606
HP:0004323	Abnormality of body weight	6497	SKI	ORPHA:1606
HP:0004323	Abnormality of body weight	6497	SKI	ORPHA:2462
HP:0004323	Abnormality of body weight	10630	PDPN	ORPHA:1606
HP:0004323	Abnormality of body weight	10277	UBE4B	ORPHA:1606
HP:0004323	Abnormality of body weight	8514	KCNAB2	ORPHA:1606
HP:0004323	Abnormality of body weight	473	RERE	ORPHA:1606
HP:0004323	Abnormality of body weight	63976	PRDM16	ORPHA:1606
HP:0004323	Abnormality of body weight	54897	CASZ1	ORPHA:1606
HP:0004323	Abnormality of body weight	2517	FUCA1	ORPHA:349
HP:0004323	Abnormality of body weight	472	ATM	ORPHA:100
HP:0004323	Abnormality of body weight	472	ATM	OMIM:208900
HP:0004323	Abnormality of body weight	3507	IGHM	OMIM:601495
HP:0004323	Abnormality of body weight	3507	IGHM	ORPHA:33110
HP:0004323	Abnormality of body weight	2947	GSTM3	ORPHA:586
HP:0004323	Abnormality of body weight	2729	GCLC	ORPHA:586
HP:0004323	Abnormality of body weight	1084	CEACAM3	ORPHA:586
HP:0004323	Abnormality of body weight	6556	SLC11A1	ORPHA:586
HP:0004323	Abnormality of body weight	51164	DCTN4	ORPHA:586
HP:0004323	Abnormality of body weight	3783	KCNN4	ORPHA:586
HP:0004323	Abnormality of body weight	4282	MIF	ORPHA:586
HP:0004323	Abnormality of body weight	1909	EDNRA	ORPHA:586
HP:0004323	Abnormality of body weight	6550	SLC9A3	ORPHA:586
HP:0004323	Abnormality of body weight	3162	HMOX1	ORPHA:586
HP:0004323	Abnormality of body weight	115019	SLC26A9	ORPHA:586
HP:0004323	Abnormality of body weight	3077	HFE	ORPHA:586
HP:0004323	Abnormality of body weight	11254	SLC6A14	ORPHA:586
HP:0004323	Abnormality of body weight	5265	SERPINA1	ORPHA:586
HP:0004323	Abnormality of body weight	22802	CLCA4	ORPHA:586
HP:0004323	Abnormality of body weight	4680	CEACAM6	ORPHA:586
HP:0004323	Abnormality of body weight	57169	ZNFX1	OMIM:619644
HP:0004323	Abnormality of body weight	2232	FDXR	ORPHA:543470
HP:0004323	Abnormality of body weight	11311	VPS45	OMIM:615285
HP:0004323	Abnormality of body weight	113179	ADAT3	OMIM:615286
HP:0004323	Abnormality of body weight	113179	ADAT3	ORPHA:363528
HP:0004323	Abnormality of body weight	50485	SMARCAL1	ORPHA:1830
HP:0004323	Abnormality of body weight	4285	MIPEP	OMIM:617228
HP:0004323	Abnormality of body weight	6901	TAFAZZIN	OMIM:302060
HP:0004323	Abnormality of body weight	90	ACVR1	ORPHA:337
HP:0004323	Abnormality of body weight	4351	MPI	OMIM:602579
HP:0004323	Abnormality of body weight	4351	MPI	ORPHA:79319
HP:0004323	Abnormality of body weight	5354	PLP1	OMIM:312080
HP:0004323	Abnormality of body weight	5354	PLP1	ORPHA:280210
HP:0004323	Abnormality of body weight	6603	SMARCD2	OMIM:617475
HP:0004323	Abnormality of body weight	111	ADCY5	OMIM:619651
HP:0004323	Abnormality of body weight	125988	MICOS13	OMIM:618329
HP:0004323	Abnormality of body weight	1585	CYP11B2	OMIM:610600
HP:0004323	Abnormality of body weight	1585	CYP11B2	OMIM:203400
HP:0004323	Abnormality of body weight	1585	CYP11B2	ORPHA:556030
HP:0004323	Abnormality of body weight	2184	FAH	OMIM:276700
HP:0004323	Abnormality of body weight	56246	MRAP	ORPHA:361
HP:0004323	Abnormality of body weight	6770	STAR	ORPHA:361
HP:0004323	Abnormality of body weight	4158	MC2R	ORPHA:361
HP:0004323	Abnormality of body weight	4158	MC2R	OMIM:202200
HP:0004323	Abnormality of body weight	23530	NNT	ORPHA:361
HP:0004323	Abnormality of body weight	23530	NNT	OMIM:614736
HP:0004323	Abnormality of body weight	10587	TXNRD2	ORPHA:361
HP:0004323	Abnormality of body weight	91252	SLC39A13	ORPHA:157965
HP:0004323	Abnormality of body weight	404672	GTF2H5	OMIM:616395
HP:0004323	Abnormality of body weight	25970	SH2B1	ORPHA:261197
HP:0004323	Abnormality of body weight	9742	IFT140	OMIM:266920
HP:0004323	Abnormality of body weight	205327	C2orf69	OMIM:619423
HP:0004323	Abnormality of body weight	27429	HTRA2	OMIM:617248
HP:0004323	Abnormality of body weight	6559	SLC12A3	ORPHA:358
HP:0004323	Abnormality of body weight	6559	SLC12A3	OMIM:263800
HP:0004323	Abnormality of body weight	389827	MYMK	OMIM:254940
HP:0004323	Abnormality of body weight	291	SLC25A4	ORPHA:254892
HP:0004323	Abnormality of body weight	5428	POLG	ORPHA:254892
HP:0004323	Abnormality of body weight	5428	POLG	OMIM:203700
HP:0004323	Abnormality of body weight	56652	TWNK	ORPHA:254892
HP:0004323	Abnormality of body weight	11232	POLG2	ORPHA:254892
HP:0004323	Abnormality of body weight	11232	POLG2	OMIM:610131
HP:0004323	Abnormality of body weight	50484	RRM2B	ORPHA:254892
HP:0004323	Abnormality of body weight	50484	RRM2B	OMIM:612075
HP:0004323	Abnormality of body weight	2074	ERCC6	OMIM:133540
HP:0004323	Abnormality of body weight	2074	ERCC6	ORPHA:90321
HP:0004323	Abnormality of body weight	2074	ERCC6	OMIM:214150
HP:0004323	Abnormality of body weight	4625	MYH7	ORPHA:324604
HP:0004323	Abnormality of body weight	7273	TTN	ORPHA:324604
HP:0004323	Abnormality of body weight	9488	PIGB	OMIM:618580
HP:0004323	Abnormality of body weight	4558	MT-TF	ORPHA:550
HP:0004323	Abnormality of body weight	4572	MT-TQ	ORPHA:550
HP:0004323	Abnormality of body weight	4512	MT-CO1	ORPHA:550
HP:0004323	Abnormality of body weight	4513	MT-CO2	ORPHA:550
HP:0004323	Abnormality of body weight	4514	MT-CO3	ORPHA:550
HP:0004323	Abnormality of body weight	4578	MT-TW	ORPHA:550
HP:0004323	Abnormality of body weight	4578	MT-TW	ORPHA:255210
HP:0004323	Abnormality of body weight	4540	MT-ND5	ORPHA:550
HP:0004323	Abnormality of body weight	4540	MT-ND5	ORPHA:255210
HP:0004323	Abnormality of body weight	4541	MT-ND6	ORPHA:550
HP:0004323	Abnormality of body weight	4541	MT-ND6	ORPHA:255210
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:550
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:2609
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:255210
HP:0004323	Abnormality of body weight	4538	MT-ND4	ORPHA:550
HP:0004323	Abnormality of body weight	4538	MT-ND4	ORPHA:255210
HP:0004323	Abnormality of body weight	4567	MT-TL1	ORPHA:550
HP:0004323	Abnormality of body weight	4567	MT-TL1	ORPHA:255210
HP:0004323	Abnormality of body weight	4574	MT-TS1	ORPHA:550
HP:0004323	Abnormality of body weight	4574	MT-TS1	OMIM:220110
HP:0004323	Abnormality of body weight	4575	MT-TS2	ORPHA:550
HP:0004323	Abnormality of body weight	4564	MT-TH	ORPHA:550
HP:0004323	Abnormality of body weight	1291	COL6A1	OMIM:254090
HP:0004323	Abnormality of body weight	1292	COL6A2	OMIM:254090
HP:0004323	Abnormality of body weight	1293	COL6A3	OMIM:254090
HP:0004323	Abnormality of body weight	10564	ARFGEF2	OMIM:608097
HP:0004323	Abnormality of body weight	92335	STRADA	ORPHA:500533
HP:0004323	Abnormality of body weight	51259	TMEM216	OMIM:608091
HP:0004323	Abnormality of body weight	51259	TMEM216	ORPHA:2754
HP:0004323	Abnormality of body weight	9526	MPDU1	OMIM:609180
HP:0004323	Abnormality of body weight	8737	RIPK1	OMIM:618108
HP:0004323	Abnormality of body weight	79813	EHMT1	ORPHA:96147
HP:0004323	Abnormality of body weight	79813	EHMT1	ORPHA:261652
HP:0004323	Abnormality of body weight	959	CD40LG	OMIM:308230
HP:0004323	Abnormality of body weight	55630	SLC39A4	ORPHA:37
HP:0004323	Abnormality of body weight	55630	SLC39A4	OMIM:201100
HP:0004323	Abnormality of body weight	8540	AGPS	OMIM:600121
HP:0004323	Abnormality of body weight	5896	RAG1	OMIM:601457
HP:0004323	Abnormality of body weight	5896	RAG1	ORPHA:331206
HP:0004323	Abnormality of body weight	5896	RAG1	OMIM:603554
HP:0004323	Abnormality of body weight	5896	RAG1	ORPHA:39041
HP:0004323	Abnormality of body weight	5897	RAG2	OMIM:601457
HP:0004323	Abnormality of body weight	5897	RAG2	ORPHA:331206
HP:0004323	Abnormality of body weight	5897	RAG2	OMIM:603554
HP:0004323	Abnormality of body weight	5897	RAG2	ORPHA:39041
HP:0004323	Abnormality of body weight	2972	BRF1	ORPHA:444072
HP:0004323	Abnormality of body weight	29887	SNX10	OMIM:615085
HP:0004323	Abnormality of body weight	23114	NFASC	OMIM:618356
HP:0004323	Abnormality of body weight	112939	NACC1	ORPHA:500545
HP:0004323	Abnormality of body weight	112939	NACC1	OMIM:617393
HP:0004323	Abnormality of body weight	4952	OCRL	ORPHA:534
HP:0004323	Abnormality of body weight	4952	OCRL	OMIM:309000
HP:0004323	Abnormality of body weight	3767	KCNJ11	ORPHA:99885
HP:0004323	Abnormality of body weight	3767	KCNJ11	ORPHA:99886
HP:0004323	Abnormality of body weight	6774	STAT3	ORPHA:99885
HP:0004323	Abnormality of body weight	2645	GCK	ORPHA:99885
HP:0004323	Abnormality of body weight	6833	ABCC8	ORPHA:99885
HP:0004323	Abnormality of body weight	6833	ABCC8	ORPHA:99886
HP:0004323	Abnormality of body weight	3630	INS	ORPHA:99885
HP:0004323	Abnormality of body weight	346171	ZFP57	ORPHA:99886
HP:0004323	Abnormality of body weight	57061	HYMAI	ORPHA:99886
HP:0004323	Abnormality of body weight	5325	PLAGL1	ORPHA:99886
HP:0004323	Abnormality of body weight	3417	IDH1	ORPHA:99646
HP:0004323	Abnormality of body weight	427	ASAH1	ORPHA:333
HP:0004323	Abnormality of body weight	427	ASAH1	OMIM:228000
HP:0004323	Abnormality of body weight	3039	HBA1	ORPHA:98791
HP:0004323	Abnormality of body weight	3040	HBA2	ORPHA:98791
HP:0004323	Abnormality of body weight	3861	KRT14	ORPHA:89838
HP:0004323	Abnormality of body weight	3861	KRT14	ORPHA:79396
HP:0004323	Abnormality of body weight	6777	STAT5B	OMIM:245590
HP:0004323	Abnormality of body weight	537	ATP6AP1	OMIM:300972
HP:0004323	Abnormality of body weight	4998	ORC1	OMIM:224690
HP:0004323	Abnormality of body weight	4998	ORC1	ORPHA:2554
HP:0004323	Abnormality of body weight	7922	SLC39A7	OMIM:619693
HP:0004323	Abnormality of body weight	6601	SMARCC2	OMIM:618362
HP:0004323	Abnormality of body weight	7468	NSD2	OMIM:619695
HP:0004323	Abnormality of body weight	7468	NSD2	OMIM:194190
HP:0004323	Abnormality of body weight	7468	NSD2	ORPHA:280
HP:0004323	Abnormality of body weight	6718	AKR1D1	OMIM:235555
HP:0004323	Abnormality of body weight	6718	AKR1D1	ORPHA:79303
HP:0004323	Abnormality of body weight	3054	HCFC1	OMIM:309541
HP:0004323	Abnormality of body weight	201163	FLCN	OMIM:610883
HP:0004323	Abnormality of body weight	2019	EN1	OMIM:619218
HP:0004323	Abnormality of body weight	549	AUH	OMIM:250950
HP:0004323	Abnormality of body weight	549	AUH	ORPHA:67046
HP:0004323	Abnormality of body weight	1312	COMT	ORPHA:567
HP:0004323	Abnormality of body weight	221037	JMJD1C	ORPHA:567
HP:0004323	Abnormality of body weight	2812	GP1BB	ORPHA:567
HP:0004323	Abnormality of body weight	6239	RREB1	ORPHA:567
HP:0004323	Abnormality of body weight	6899	TBX1	ORPHA:567
HP:0004323	Abnormality of body weight	7290	HIRA	ORPHA:567
HP:0004323	Abnormality of body weight	9632	SEC24C	ORPHA:567
HP:0004323	Abnormality of body weight	7353	UFD1	ORPHA:567
HP:0004323	Abnormality of body weight	421	ARVCF	ORPHA:567
HP:0004323	Abnormality of body weight	3291	HSD11B2	ORPHA:320
HP:0004323	Abnormality of body weight	3291	HSD11B2	OMIM:218030
HP:0004323	Abnormality of body weight	4547	MTTP	ORPHA:14
HP:0004323	Abnormality of body weight	6045	RNF2	OMIM:619460
HP:0004323	Abnormality of body weight	51102	MECR	OMIM:617282
HP:0004323	Abnormality of body weight	51102	MECR	ORPHA:508093
HP:0004323	Abnormality of body weight	6557	SLC12A1	OMIM:601678
HP:0004323	Abnormality of body weight	7809	BSND	OMIM:602522
HP:0004323	Abnormality of body weight	7809	BSND	ORPHA:89938
HP:0004323	Abnormality of body weight	63931	MRPS14	OMIM:618378
HP:0004323	Abnormality of body weight	11342	RNF13	OMIM:618379
HP:0004323	Abnormality of body weight	11342	RNF13	ORPHA:544503
HP:0004323	Abnormality of body weight	127833	SYT2	OMIM:619461
HP:0004323	Abnormality of body weight	8802	SUCLG1	ORPHA:17
HP:0004323	Abnormality of body weight	8802	SUCLG1	OMIM:245400
HP:0004323	Abnormality of body weight	146206	CARMIL2	OMIM:618131
HP:0004323	Abnormality of body weight	3188	HNRNPH2	OMIM:300986
HP:0004323	Abnormality of body weight	84705	GTPBP3	OMIM:616198
HP:0004323	Abnormality of body weight	84705	GTPBP3	ORPHA:444013
HP:0004323	Abnormality of body weight	9971	NR1H4	OMIM:617049
HP:0004323	Abnormality of body weight	4548	MTR	OMIM:250940
HP:0004323	Abnormality of body weight	65250	CPLANE1	OMIM:277170
HP:0004323	Abnormality of body weight	65250	CPLANE1	ORPHA:2754
HP:0004323	Abnormality of body weight	134218	DNAJC21	OMIM:617052
HP:0004323	Abnormality of body weight	134218	DNAJC21	ORPHA:811
HP:0004323	Abnormality of body weight	134218	DNAJC21	OMIM:260400
HP:0004323	Abnormality of body weight	10526	IPO8	OMIM:619472
HP:0004323	Abnormality of body weight	54539	NDUFB11	OMIM:300952
HP:0004323	Abnormality of body weight	54539	NDUFB11	ORPHA:2556
HP:0004323	Abnormality of body weight	54539	NDUFB11	ORPHA:2609
HP:0004323	Abnormality of body weight	435	ASL	OMIM:207900
HP:0004323	Abnormality of body weight	8452	CUL3	OMIM:619239
HP:0004323	Abnormality of body weight	162417	NAGS	OMIM:237310
HP:0004323	Abnormality of body weight	162417	NAGS	ORPHA:927
HP:0004323	Abnormality of body weight	2887	GRB10	ORPHA:96182
HP:0004323	Abnormality of body weight	10682	EBP	OMIM:300960
HP:0004323	Abnormality of body weight	10682	EBP	ORPHA:401973
HP:0004323	Abnormality of body weight	10682	EBP	OMIM:302960
HP:0004323	Abnormality of body weight	1457	CSNK2A1	OMIM:617062
HP:0004323	Abnormality of body weight	100147744	RNU7-1	OMIM:619487
HP:0004323	Abnormality of body weight	374879	ZNF699	OMIM:619488
HP:0004323	Abnormality of body weight	200931	SLC51A	OMIM:619484
HP:0004323	Abnormality of body weight	9373	PLAA	ORPHA:521426
HP:0004323	Abnormality of body weight	9373	PLAA	OMIM:617527
HP:0004323	Abnormality of body weight	2998	GYS2	ORPHA:2089
HP:0004323	Abnormality of body weight	57038	RARS2	OMIM:611523
HP:0004323	Abnormality of body weight	6514	SLC2A2	ORPHA:2088
HP:0004323	Abnormality of body weight	6514	SLC2A2	OMIM:227810
HP:0004323	Abnormality of body weight	10551	AGR2	OMIM:620233
HP:0004323	Abnormality of body weight	3516	RBPJ	ORPHA:974
HP:0004323	Abnormality of body weight	4851	NOTCH1	ORPHA:974
HP:0004323	Abnormality of body weight	57514	ARHGAP31	ORPHA:974
HP:0004323	Abnormality of body weight	57572	DOCK6	ORPHA:974
HP:0004323	Abnormality of body weight	285203	EOGT	ORPHA:974
HP:0004323	Abnormality of body weight	54567	DLL4	ORPHA:974
HP:0004323	Abnormality of body weight	60386	SLC25A19	OMIM:607196
HP:0004323	Abnormality of body weight	55670	PEX26	ORPHA:772
HP:0004323	Abnormality of body weight	55670	PEX26	ORPHA:912
HP:0004323	Abnormality of body weight	5828	PEX2	ORPHA:772
HP:0004323	Abnormality of body weight	5828	PEX2	OMIM:614866
HP:0004323	Abnormality of body weight	5828	PEX2	ORPHA:912
HP:0004323	Abnormality of body weight	8504	PEX3	ORPHA:772
HP:0004323	Abnormality of body weight	8504	PEX3	ORPHA:912
HP:0004323	Abnormality of body weight	9409	PEX16	ORPHA:772
HP:0004323	Abnormality of body weight	9409	PEX16	OMIM:614877
HP:0004323	Abnormality of body weight	9409	PEX16	ORPHA:912
HP:0004323	Abnormality of body weight	5190	PEX6	ORPHA:772
HP:0004323	Abnormality of body weight	5190	PEX6	ORPHA:912
HP:0004323	Abnormality of body weight	8799	PEX11B	ORPHA:772
HP:0004323	Abnormality of body weight	8799	PEX11B	ORPHA:912
HP:0004323	Abnormality of body weight	5830	PEX5	ORPHA:772
HP:0004323	Abnormality of body weight	5830	PEX5	OMIM:214110
HP:0004323	Abnormality of body weight	5830	PEX5	ORPHA:912
HP:0004323	Abnormality of body weight	5189	PEX1	ORPHA:772
HP:0004323	Abnormality of body weight	5189	PEX1	OMIM:214100
HP:0004323	Abnormality of body weight	5189	PEX1	ORPHA:912
HP:0004323	Abnormality of body weight	5193	PEX12	ORPHA:772
HP:0004323	Abnormality of body weight	5193	PEX12	ORPHA:912
HP:0004323	Abnormality of body weight	5193	PEX12	OMIM:266510
HP:0004323	Abnormality of body weight	5194	PEX13	ORPHA:772
HP:0004323	Abnormality of body weight	5194	PEX13	OMIM:614883
HP:0004323	Abnormality of body weight	5194	PEX13	ORPHA:912
HP:0004323	Abnormality of body weight	5195	PEX14	ORPHA:772
HP:0004323	Abnormality of body weight	5195	PEX14	ORPHA:912
HP:0004323	Abnormality of body weight	5192	PEX10	ORPHA:772
HP:0004323	Abnormality of body weight	5192	PEX10	ORPHA:912
HP:0004323	Abnormality of body weight	201595	STT3B	ORPHA:370924
HP:0004323	Abnormality of body weight	201595	STT3B	OMIM:615597
HP:0004323	Abnormality of body weight	6748	SSR4	ORPHA:370927
HP:0004323	Abnormality of body weight	6748	SSR4	OMIM:300934
HP:0004323	Abnormality of body weight	5317	PKP1	ORPHA:158668
HP:0004323	Abnormality of body weight	7482	WNT2B	OMIM:618168
HP:0004323	Abnormality of body weight	63899	NSUN3	OMIM:619012
HP:0004323	Abnormality of body weight	203190	LGI3	OMIM:620007
HP:0004323	Abnormality of body weight	284058	KANSL1	OMIM:610443
HP:0004323	Abnormality of body weight	875	CBS	OMIM:236200
HP:0004323	Abnormality of body weight	84081	NSRP1	OMIM:620001
HP:0004323	Abnormality of body weight	5468	PPARG	ORPHA:528
HP:0004323	Abnormality of body weight	10555	AGPAT2	ORPHA:528
HP:0004323	Abnormality of body weight	284119	CAVIN1	ORPHA:528
HP:0004323	Abnormality of body weight	284119	CAVIN1	OMIM:613327
HP:0004323	Abnormality of body weight	26580	BSCL2	ORPHA:528
HP:0004323	Abnormality of body weight	2353	FOS	ORPHA:528
HP:0004323	Abnormality of body weight	10079	ATP9A	OMIM:620242
HP:0004323	Abnormality of body weight	2801	GOLGA2	OMIM:620240
HP:0004323	Abnormality of body weight	50617	ATP6V0A4	OMIM:602722
HP:0004323	Abnormality of body weight	116150	NUS1	OMIM:617082
HP:0004323	Abnormality of body weight	116150	NUS1	ORPHA:442835
HP:0004323	Abnormality of body weight	118429	ANTXR2	OMIM:228600
HP:0004323	Abnormality of body weight	118429	ANTXR2	ORPHA:2176
HP:0004323	Abnormality of body weight	1373	CPS1	OMIM:237300
HP:0004323	Abnormality of body weight	5696	PSMB8	OMIM:256040
HP:0004323	Abnormality of body weight	25886	POC1A	OMIM:614813
HP:0004323	Abnormality of body weight	128	ADH5	OMIM:619151
HP:0004323	Abnormality of body weight	64374	SIL1	OMIM:248800
HP:0004323	Abnormality of body weight	6399	TRAPPC2	ORPHA:93284
HP:0004323	Abnormality of body weight	6535	SLC6A8	OMIM:300352
HP:0004323	Abnormality of body weight	6309	SC5D	ORPHA:46059
HP:0004323	Abnormality of body weight	6775	STAT4	ORPHA:85410
HP:0004323	Abnormality of body weight	3560	IL2RB	ORPHA:85410
HP:0004323	Abnormality of body weight	3560	IL2RB	OMIM:618495
HP:0004323	Abnormality of body weight	79722	ANKRD55	ORPHA:85410
HP:0004323	Abnormality of body weight	26191	PTPN22	ORPHA:85410
HP:0004323	Abnormality of body weight	919	CD247	ORPHA:85410
HP:0004323	Abnormality of body weight	5771	PTPN2	ORPHA:85410
HP:0004323	Abnormality of body weight	5393	EXOSC9	OMIM:618065
HP:0004323	Abnormality of body weight	5393	EXOSC9	ORPHA:2254
HP:0004323	Abnormality of body weight	10312	TCIRG1	OMIM:259700
HP:0004323	Abnormality of body weight	5009	OTC	OMIM:311250
HP:0004323	Abnormality of body weight	25821	MTO1	OMIM:614702
HP:0004323	Abnormality of body weight	987	LRBA	OMIM:614700
HP:0004323	Abnormality of body weight	51343	FZR1	OMIM:620145
HP:0004323	Abnormality of body weight	51343	FZR1	ORPHA:442835
HP:0004323	Abnormality of body weight	80232	WDR26	ORPHA:513456
HP:0004323	Abnormality of body weight	51506	UFC1	OMIM:618076
HP:0004323	Abnormality of body weight	63916	ELMO2	ORPHA:3019
HP:0004323	Abnormality of body weight	79947	DHDDS	OMIM:613861
HP:0004323	Abnormality of body weight	79947	DHDDS	ORPHA:442835
HP:0004323	Abnormality of body weight	841	CASP8	OMIM:607271
HP:0004323	Abnormality of body weight	55788	LMBRD1	OMIM:277380
HP:0004323	Abnormality of body weight	55788	LMBRD1	ORPHA:79284
HP:0004323	Abnormality of body weight	80055	PGAP1	OMIM:615802
HP:0004323	Abnormality of body weight	6662	SOX9	OMIM:114290
HP:0004323	Abnormality of body weight	55780	ERMARD	ORPHA:75857
HP:0004323	Abnormality of body weight	429	ASCL1	ORPHA:99803
HP:0004323	Abnormality of body weight	8929	PHOX2B	ORPHA:99803
HP:0004323	Abnormality of body weight	3242	HPD	OMIM:140350
HP:0004323	Abnormality of body weight	3242	HPD	ORPHA:2118
HP:0004323	Abnormality of body weight	771	CA12	OMIM:143860
HP:0004323	Abnormality of body weight	79631	EFL1	ORPHA:811
HP:0004323	Abnormality of body weight	79631	EFL1	OMIM:617941
HP:0004323	Abnormality of body weight	51119	SBDS	ORPHA:811
HP:0004323	Abnormality of body weight	51119	SBDS	OMIM:260400
HP:0004323	Abnormality of body weight	6729	SRP54	ORPHA:811
HP:0004323	Abnormality of body weight	6729	SRP54	OMIM:260400
HP:0004323	Abnormality of body weight	6439	SFTPB	OMIM:265120
HP:0004323	Abnormality of body weight	87178	PNPT1	ORPHA:319514
HP:0004323	Abnormality of body weight	1738	DLD	ORPHA:2394
HP:0004323	Abnormality of body weight	4001	LMNB1	OMIM:619179
HP:0004323	Abnormality of body weight	84876	ORAI1	OMIM:612782
HP:0004323	Abnormality of body weight	3988	LIPA	OMIM:278000
HP:0004323	Abnormality of body weight	92579	G6PC3	OMIM:612541
HP:0004323	Abnormality of body weight	55858	TMEM165	OMIM:614727
HP:0004323	Abnormality of body weight	9839	ZEB2	ORPHA:261552
HP:0004323	Abnormality of body weight	9839	ZEB2	ORPHA:261537
HP:0004323	Abnormality of body weight	50674	NEUROG3	OMIM:610370
HP:0004323	Abnormality of body weight	6885	MAP3K7	OMIM:157800
HP:0004323	Abnormality of body weight	7170	TPM3	OMIM:255310
HP:0004323	Abnormality of body weight	7170	TPM3	ORPHA:2020
HP:0004323	Abnormality of body weight	1591	CYP24A1	OMIM:143880
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	OMIM:278250
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	OMIM:219200
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	ORPHA:2834
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	ORPHA:357074
HP:0004323	Abnormality of body weight	84300	UQCC2	OMIM:615824
HP:0004323	Abnormality of body weight	113235	SLC46A1	OMIM:229050
HP:0004323	Abnormality of body weight	113235	SLC46A1	ORPHA:90045
HP:0004323	Abnormality of body weight	63894	VIPAS39	OMIM:613404
HP:0004323	Abnormality of body weight	79053	ALG8	OMIM:608104
HP:0004323	Abnormality of body weight	79053	ALG8	ORPHA:79325
HP:0004323	Abnormality of body weight	53834	FGFRL1	OMIM:194190
HP:0004323	Abnormality of body weight	1487	CTBP1	OMIM:194190
HP:0004323	Abnormality of body weight	1487	CTBP1	ORPHA:280
HP:0004323	Abnormality of body weight	3954	LETM1	OMIM:194190
HP:0004323	Abnormality of body weight	3954	LETM1	ORPHA:280
HP:0004323	Abnormality of body weight	10815	CPLX1	OMIM:194190
HP:0004323	Abnormality of body weight	10815	CPLX1	ORPHA:280
HP:0004323	Abnormality of body weight	84947	SERAC1	OMIM:614739
HP:0004323	Abnormality of body weight	1798	DPAGT1	ORPHA:86309
HP:0004323	Abnormality of body weight	6125	RPL5	OMIM:612561
HP:0004323	Abnormality of body weight	4519	MT-CYB	ORPHA:137675
HP:0004323	Abnormality of body weight	773	CACNA1A	ORPHA:2131
HP:0004323	Abnormality of body weight	773	CACNA1A	ORPHA:442835
HP:0004323	Abnormality of body weight	6507	SLC1A3	ORPHA:2131
HP:0004323	Abnormality of body weight	477	ATP1A2	ORPHA:2131
HP:0004323	Abnormality of body weight	477	ATP1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	478	ATP1A3	ORPHA:2131
HP:0004323	Abnormality of body weight	478	ATP1A3	ORPHA:442835
HP:0004323	Abnormality of body weight	90624	LYRM7	OMIM:615838
HP:0004323	Abnormality of body weight	1650	DDOST	OMIM:614507
HP:0004323	Abnormality of body weight	1650	DDOST	ORPHA:300536
HP:0004323	Abnormality of body weight	10056	FARSB	OMIM:613658
HP:0004323	Abnormality of body weight	128674	PROKR2	ORPHA:95496
HP:0004323	Abnormality of body weight	89884	LHX4	ORPHA:95496
HP:0004323	Abnormality of body weight	55717	WDR11	ORPHA:95496
HP:0004323	Abnormality of body weight	6091	ROBO1	ORPHA:95496
HP:0004323	Abnormality of body weight	8820	HESX1	ORPHA:95496
HP:0004323	Abnormality of body weight	23432	GPR161	ORPHA:95496
HP:0004323	Abnormality of body weight	11128	POLR3A	OMIM:264090
HP:0004323	Abnormality of body weight	11128	POLR3A	ORPHA:3455
HP:0004323	Abnormality of body weight	79759	ZNF668	OMIM:620194
HP:0004323	Abnormality of body weight	1303	COL12A1	ORPHA:536516
HP:0004323	Abnormality of body weight	182	JAG1	OMIM:118450
HP:0004323	Abnormality of body weight	9440	MED17	OMIM:613668
HP:0004323	Abnormality of body weight	917	CD3G	OMIM:615607
HP:0004323	Abnormality of body weight	51128	SAR1B	ORPHA:71
HP:0004323	Abnormality of body weight	51128	SAR1B	OMIM:246700
HP:0004323	Abnormality of body weight	55343	SLC35C1	ORPHA:99843
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:98754
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177904
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177901
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:98754
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:177904
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:177901
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:98754
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:177904
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:177901
HP:0004323	Abnormality of body weight	695	BTK	ORPHA:47
HP:0004323	Abnormality of body weight	8813	DPM1	OMIM:608799
HP:0004323	Abnormality of body weight	8813	DPM1	ORPHA:79322
HP:0004323	Abnormality of body weight	9652	SKIC3	OMIM:222470
HP:0004323	Abnormality of body weight	55275	VPS53	OMIM:615851
HP:0004323	Abnormality of body weight	445	ASS1	OMIM:215700
HP:0004323	Abnormality of body weight	915	CD3D	OMIM:615617
HP:0004323	Abnormality of body weight	6314	ATXN7	ORPHA:94147
HP:0004323	Abnormality of body weight	171023	ASXL1	OMIM:605039
HP:0004323	Abnormality of body weight	8694	DGAT1	OMIM:615863
HP:0004323	Abnormality of body weight	1288	COL4A6	ORPHA:1018
HP:0004323	Abnormality of body weight	1287	COL4A5	ORPHA:1018
HP:0004323	Abnormality of body weight	9663	LPIN2	OMIM:609628
HP:0004323	Abnormality of body weight	9663	LPIN2	ORPHA:77297
HP:0004323	Abnormality of body weight	91949	COG7	OMIM:608779
HP:0004323	Abnormality of body weight	91949	COG7	ORPHA:79333
HP:0004323	Abnormality of body weight	2245	FGD1	OMIM:305400
HP:0004323	Abnormality of body weight	6569	SLC34A1	OMIM:616963
HP:0004323	Abnormality of body weight	132	ADK	OMIM:614300
HP:0004323	Abnormality of body weight	23394	ADNP	OMIM:615873
HP:0004323	Abnormality of body weight	4072	EPCAM	OMIM:613217
HP:0004323	Abnormality of body weight	4072	EPCAM	ORPHA:92050
HP:0004323	Abnormality of body weight	6948	TCN2	OMIM:275350
HP:0004323	Abnormality of body weight	79796	ALG9	OMIM:608776
HP:0004323	Abnormality of body weight	3981	LIG4	OMIM:606593
HP:0004323	Abnormality of body weight	3981	LIG4	ORPHA:39041
HP:0004323	Abnormality of body weight	1806	DPYD	OMIM:274270
HP:0004323	Abnormality of body weight	54931	TRMT10C	OMIM:616974
HP:0004323	Abnormality of body weight	4792	NFKBIA	OMIM:612132
HP:0004323	Abnormality of body weight	2782	GNB1	OMIM:616973
HP:0004323	Abnormality of body weight	2782	GNB1	ORPHA:488613
HP:0004323	Abnormality of body weight	131118	DNAJC19	OMIM:610198
HP:0004323	Abnormality of body weight	8085	KMT2D	ORPHA:2322
HP:0004323	Abnormality of body weight	79644	SRD5A3	OMIM:612379
HP:0004323	Abnormality of body weight	117581	TWIST2	ORPHA:1231
HP:0004323	Abnormality of body weight	3097	HIVEP2	OMIM:616977
HP:0004323	Abnormality of body weight	7547	ZIC3	OMIM:306955
HP:0004323	Abnormality of body weight	7037	TFRC	OMIM:616740
HP:0004323	Abnormality of body weight	4358	MPV17	OMIM:256810
HP:0004323	Abnormality of body weight	10616	RBCK1	OMIM:615895
HP:0004323	Abnormality of body weight	130589	GALM	ORPHA:570422
HP:0004323	Abnormality of body weight	6868	ADAM17	OMIM:614328
HP:0004323	Abnormality of body weight	2917	GRM7	OMIM:618922
HP:0004323	Abnormality of body weight	2917	GRM7	ORPHA:1934
HP:0004323	Abnormality of body weight	81620	CDT1	ORPHA:2554
HP:0004323	Abnormality of body weight	81620	CDT1	OMIM:613804
HP:0004323	Abnormality of body weight	5000	ORC4	ORPHA:2554
HP:0004323	Abnormality of body weight	5000	ORC4	OMIM:613800
HP:0004323	Abnormality of body weight	23594	ORC6	ORPHA:2554
HP:0004323	Abnormality of body weight	23594	ORC6	OMIM:613803
HP:0004323	Abnormality of body weight	990	CDC6	ORPHA:2554
HP:0004323	Abnormality of body weight	990	CDC6	OMIM:613805
HP:0004323	Abnormality of body weight	51053	GMNN	ORPHA:2554
HP:0004323	Abnormality of body weight	51053	GMNN	OMIM:616835
HP:0004323	Abnormality of body weight	84693	MCEE	OMIM:251120
HP:0004323	Abnormality of body weight	1349	COX7B	ORPHA:2556
HP:0004323	Abnormality of body weight	3052	HCCS	ORPHA:2556
HP:0004323	Abnormality of body weight	4982	TNFRSF11B	OMIM:239000
HP:0004323	Abnormality of body weight	7286	TUFT1	OMIM:607655
HP:0004323	Abnormality of body weight	25	ABL1	OMIM:617602
HP:0004323	Abnormality of body weight	57511	COG6	OMIM:614576
HP:0004323	Abnormality of body weight	26227	PHGDH	ORPHA:79351
HP:0004323	Abnormality of body weight	3868	KRT16	ORPHA:2309
HP:0004323	Abnormality of body weight	3872	KRT17	ORPHA:2309
HP:0004323	Abnormality of body weight	3853	KRT6A	ORPHA:2309
HP:0004323	Abnormality of body weight	3854	KRT6B	ORPHA:2309
HP:0004323	Abnormality of body weight	326625	MMAB	OMIM:251110
HP:0004323	Abnormality of body weight	760	CA2	ORPHA:2785
HP:0004323	Abnormality of body weight	60	ACTB	OMIM:243310
HP:0004323	Abnormality of body weight	60	ACTB	ORPHA:2995
HP:0004323	Abnormality of body weight	23476	BRD4	ORPHA:199
HP:0004323	Abnormality of body weight	9126	SMC3	ORPHA:199
HP:0004323	Abnormality of body weight	8243	SMC1A	ORPHA:199
HP:0004323	Abnormality of body weight	8243	SMC1A	ORPHA:220386
HP:0004323	Abnormality of body weight	25836	NIPBL	ORPHA:199
HP:0004323	Abnormality of body weight	55869	HDAC8	ORPHA:199
HP:0004323	Abnormality of body weight	5885	RAD21	ORPHA:199
HP:0004323	Abnormality of body weight	10664	CTCF	ORPHA:363611
HP:0004323	Abnormality of body weight	55180	LINS1	OMIM:614340
HP:0004323	Abnormality of body weight	11222	MRPL3	OMIM:614582
HP:0004323	Abnormality of body weight	51520	LARS1	OMIM:615438
HP:0004323	Abnormality of body weight	55617	TASP1	OMIM:618950
HP:0004323	Abnormality of body weight	6182	MRPL12	OMIM:618951
HP:0004323	Abnormality of body weight	60528	ELAC2	OMIM:615440
HP:0004323	Abnormality of body weight	57688	ZSWIM6	OMIM:617865
HP:0004323	Abnormality of body weight	2893	GRIA4	OMIM:617864
HP:0004323	Abnormality of body weight	28957	MRPS28	OMIM:618958
HP:0004323	Abnormality of body weight	50615	IL21R	OMIM:615207
HP:0004323	Abnormality of body weight	57570	TRMT5	OMIM:616539
HP:0004323	Abnormality of body weight	3033	HADH	ORPHA:71212
HP:0004323	Abnormality of body weight	617	BCS1L	OMIM:124000
HP:0004323	Abnormality of body weight	139285	AMER1	OMIM:300373
HP:0004323	Abnormality of body weight	6389	SDHA	ORPHA:255241
HP:0004323	Abnormality of body weight	80704	SLC19A3	ORPHA:255241
HP:0004323	Abnormality of body weight	91942	NDUFAF2	ORPHA:255241
HP:0004323	Abnormality of body weight	91942	NDUFAF2	ORPHA:2609
HP:0004323	Abnormality of body weight	6834	SURF1	ORPHA:255241
HP:0004323	Abnormality of body weight	6834	SURF1	OMIM:220110
HP:0004323	Abnormality of body weight	6834	SURF1	ORPHA:70474
HP:0004323	Abnormality of body weight	4723	NDUFV1	ORPHA:255241
HP:0004323	Abnormality of body weight	4723	NDUFV1	ORPHA:2609
HP:0004323	Abnormality of body weight	55572	FOXRED1	ORPHA:255241
HP:0004323	Abnormality of body weight	55572	FOXRED1	ORPHA:2609
HP:0004323	Abnormality of body weight	4729	NDUFV2	ORPHA:255241
HP:0004323	Abnormality of body weight	4729	NDUFV2	ORPHA:2609
HP:0004323	Abnormality of body weight	4729	NDUFV2	OMIM:618229
HP:0004323	Abnormality of body weight	55967	NDUFA12	ORPHA:255241
HP:0004323	Abnormality of body weight	51204	TACO1	ORPHA:255241
HP:0004323	Abnormality of body weight	4720	NDUFS2	ORPHA:255241
HP:0004323	Abnormality of body weight	4720	NDUFS2	ORPHA:2609
HP:0004323	Abnormality of body weight	4720	NDUFS2	OMIM:618228
HP:0004323	Abnormality of body weight	4720	NDUFS2	ORPHA:70474
HP:0004323	Abnormality of body weight	4724	NDUFS4	ORPHA:255241
HP:0004323	Abnormality of body weight	4724	NDUFS4	OMIM:252010
HP:0004323	Abnormality of body weight	4724	NDUFS4	ORPHA:2609
HP:0004323	Abnormality of body weight	4728	NDUFS8	ORPHA:255241
HP:0004323	Abnormality of body weight	4728	NDUFS8	ORPHA:2609
HP:0004323	Abnormality of body weight	137682	NDUFAF6	ORPHA:255241
HP:0004323	Abnormality of body weight	4722	NDUFS3	ORPHA:255241
HP:0004323	Abnormality of body weight	4722	NDUFS3	ORPHA:2609
HP:0004323	Abnormality of body weight	79133	NDUFAF5	ORPHA:255241
HP:0004323	Abnormality of body weight	79133	NDUFAF5	ORPHA:2609
HP:0004323	Abnormality of body weight	79133	NDUFAF5	OMIM:618238
HP:0004323	Abnormality of body weight	5160	PDHA1	ORPHA:255241
HP:0004323	Abnormality of body weight	100131801	PET100	ORPHA:255241
HP:0004323	Abnormality of body weight	100131801	PET100	OMIM:619055
HP:0004323	Abnormality of body weight	1355	COX15	ORPHA:255241
HP:0004323	Abnormality of body weight	1892	ECHS1	ORPHA:255241
HP:0004323	Abnormality of body weight	123263	MTFMT	ORPHA:255241
HP:0004323	Abnormality of body weight	51079	NDUFA13	ORPHA:255241
HP:0004323	Abnormality of body weight	51079	NDUFA13	OMIM:618249
HP:0004323	Abnormality of body weight	374291	NDUFS7	ORPHA:255241
HP:0004323	Abnormality of body weight	374291	NDUFS7	ORPHA:2609
HP:0004323	Abnormality of body weight	4705	NDUFA10	ORPHA:255241
HP:0004323	Abnormality of body weight	51601	LIPT1	ORPHA:255241
HP:0004323	Abnormality of body weight	4719	NDUFS1	ORPHA:255241
HP:0004323	Abnormality of body weight	4719	NDUFS1	ORPHA:2609
HP:0004323	Abnormality of body weight	4719	NDUFS1	OMIM:618226
HP:0004323	Abnormality of body weight	4695	NDUFA2	ORPHA:255241
HP:0004323	Abnormality of body weight	4695	NDUFA2	OMIM:618235
HP:0004323	Abnormality of body weight	4704	NDUFA9	ORPHA:255241
HP:0004323	Abnormality of body weight	54802	TRIT1	OMIM:617873
HP:0004323	Abnormality of body weight	51081	MRPS7	OMIM:617872
HP:0004323	Abnormality of body weight	1537	CYC1	OMIM:615453
HP:0004323	Abnormality of body weight	26503	SLC17A5	OMIM:269920
HP:0004323	Abnormality of body weight	133686	NADK2	ORPHA:431361
HP:0004323	Abnormality of body weight	133686	NADK2	OMIM:616034
HP:0004323	Abnormality of body weight	3458	IFNG	OMIM:618963
HP:0004323	Abnormality of body weight	5449	POU1F1	OMIM:613038
HP:0004323	Abnormality of body weight	4621	MYH3	ORPHA:2990
HP:0004323	Abnormality of body weight	4621	MYH3	OMIM:193700
HP:0004323	Abnormality of body weight	4621	MYH3	ORPHA:2053
HP:0004323	Abnormality of body weight	1146	CHRNG	ORPHA:2990
HP:0004323	Abnormality of body weight	26123	TCTN3	ORPHA:2753
HP:0004323	Abnormality of body weight	26123	TCTN3	ORPHA:2754
HP:0004323	Abnormality of body weight	71	ACTG1	ORPHA:2995
HP:0004323	Abnormality of body weight	10210	TOPORS	ORPHA:2754
HP:0004323	Abnormality of body weight	9851	KIAA0753	ORPHA:2754
HP:0004323	Abnormality of body weight	5147	PDE6D	ORPHA:2754
HP:0004323	Abnormality of body weight	8481	OFD1	ORPHA:2754
HP:0004323	Abnormality of body weight	317662	FAM149B1	ORPHA:2754
HP:0004323	Abnormality of body weight	374654	KIF7	ORPHA:2754
HP:0004323	Abnormality of body weight	374654	KIF7	OMIM:200990
HP:0004323	Abnormality of body weight	672	BRCA1	OMIM:617883
HP:0004323	Abnormality of body weight	4153	MBL2	OMIM:614372
HP:0004323	Abnormality of body weight	523	ATP6V1A	OMIM:617403
HP:0004323	Abnormality of body weight	523	ATP6V1A	ORPHA:442835
HP:0004323	Abnormality of body weight	523	ATP6V1A	ORPHA:357074
HP:0004323	Abnormality of body weight	242	ALOX12B	ORPHA:79394
HP:0004323	Abnormality of body weight	204219	CERS3	ORPHA:79394
HP:0004323	Abnormality of body weight	285848	PNPLA1	ORPHA:79394
HP:0004323	Abnormality of body weight	59344	ALOXE3	ORPHA:79394
HP:0004323	Abnormality of body weight	348938	NIPAL4	ORPHA:79394
HP:0004323	Abnormality of body weight	7051	TGM1	ORPHA:79394
HP:0004323	Abnormality of body weight	6929	TCF3	OMIM:619824
HP:0004323	Abnormality of body weight	6929	TCF3	ORPHA:33110
HP:0004323	Abnormality of body weight	3852	KRT5	ORPHA:79396
HP:0004323	Abnormality of body weight	2746	GLUD1	OMIM:606762
HP:0004323	Abnormality of body weight	100	ADA	ORPHA:277
HP:0004323	Abnormality of body weight	100	ADA	ORPHA:39041
HP:0004323	Abnormality of body weight	100	ADA	OMIM:102700
HP:0004323	Abnormality of body weight	3561	IL2RG	ORPHA:276
HP:0004323	Abnormality of body weight	3561	IL2RG	OMIM:300400
HP:0004323	Abnormality of body weight	3561	IL2RG	ORPHA:39041
HP:0004323	Abnormality of body weight	8036	SHOC2	OMIM:607721
HP:0004323	Abnormality of body weight	64421	DCLRE1C	ORPHA:275
HP:0004323	Abnormality of body weight	64421	DCLRE1C	OMIM:603554
HP:0004323	Abnormality of body weight	64421	DCLRE1C	OMIM:602450
HP:0004323	Abnormality of body weight	64421	DCLRE1C	ORPHA:39041
HP:0004323	Abnormality of body weight	25915	NDUFAF3	ORPHA:2609
HP:0004323	Abnormality of body weight	25915	NDUFAF3	ORPHA:70474
HP:0004323	Abnormality of body weight	51103	NDUFAF1	ORPHA:2609
HP:0004323	Abnormality of body weight	51103	NDUFAF1	OMIM:618234
HP:0004323	Abnormality of body weight	51300	TIMMDC1	ORPHA:2609
HP:0004323	Abnormality of body weight	51300	TIMMDC1	OMIM:618251
HP:0004323	Abnormality of body weight	4716	NDUFB10	ORPHA:2609
HP:0004323	Abnormality of body weight	284184	NDUFAF8	ORPHA:2609
HP:0004323	Abnormality of body weight	55863	TMEM126B	ORPHA:2609
HP:0004323	Abnormality of body weight	55863	TMEM126B	OMIM:618250
HP:0004323	Abnormality of body weight	4537	MT-ND3	ORPHA:2609
HP:0004323	Abnormality of body weight	4537	MT-ND3	ORPHA:255210
HP:0004323	Abnormality of body weight	4694	NDUFA1	ORPHA:2609
HP:0004323	Abnormality of body weight	4726	NDUFS6	ORPHA:2609
HP:0004323	Abnormality of body weight	126328	NDUFA11	ORPHA:2609
HP:0004323	Abnormality of body weight	4709	NDUFB3	ORPHA:2609
HP:0004323	Abnormality of body weight	4709	NDUFB3	OMIM:618246
HP:0004323	Abnormality of body weight	80224	NUBPL	ORPHA:2609
HP:0004323	Abnormality of body weight	29078	NDUFAF4	ORPHA:2609
HP:0004323	Abnormality of body weight	29078	NDUFAF4	OMIM:618237
HP:0004323	Abnormality of body weight	4700	NDUFA6	ORPHA:2609
HP:0004323	Abnormality of body weight	4536	MT-ND2	ORPHA:2609
HP:0004323	Abnormality of body weight	4536	MT-ND2	ORPHA:255210
HP:0004323	Abnormality of body weight	4715	NDUFB9	ORPHA:2609
HP:0004323	Abnormality of body weight	3551	IKBKB	OMIM:615592
HP:0004323	Abnormality of body weight	10617	STAMBP	OMIM:614261
HP:0004323	Abnormality of body weight	8367	H4C5	OMIM:619950
HP:0004323	Abnormality of body weight	229	ALDOB	OMIM:229600
HP:0004323	Abnormality of body weight	57128	LYRM4	OMIM:615595
HP:0004323	Abnormality of body weight	197322	ACSF3	OMIM:614265
HP:0004323	Abnormality of body weight	197322	ACSF3	ORPHA:289504
HP:0004323	Abnormality of body weight	3703	STT3A	OMIM:615596
HP:0004323	Abnormality of body weight	3703	STT3A	ORPHA:370921
HP:0004323	Abnormality of body weight	6016	RIT1	OMIM:615355
HP:0004323	Abnormality of body weight	10054	UBA2	OMIM:619959
HP:0004323	Abnormality of body weight	4860	PNP	OMIM:613179
HP:0004323	Abnormality of body weight	2720	GLB1	OMIM:230600
HP:0004323	Abnormality of body weight	80270	HSD3B7	ORPHA:79301
HP:0004323	Abnormality of body weight	80270	HSD3B7	OMIM:607765
HP:0004323	Abnormality of body weight	79783	SUGCT	ORPHA:35706
HP:0004323	Abnormality of body weight	79783	SUGCT	OMIM:231690
HP:0004323	Abnormality of body weight	79848	CSPP1	ORPHA:397715
HP:0004323	Abnormality of body weight	9786	KIAA0586	ORPHA:397715
HP:0004323	Abnormality of body weight	4577	MT-TV	ORPHA:255210
HP:0004323	Abnormality of body weight	4508	MT-ATP6	ORPHA:255210
HP:0004323	Abnormality of body weight	4508	MT-ATP6	ORPHA:225154
HP:0004323	Abnormality of body weight	4566	MT-TK	ORPHA:255210
HP:0004323	Abnormality of body weight	3074	HEXB	ORPHA:309162
HP:0004323	Abnormality of body weight	249	ALPL	OMIM:241500
HP:0004323	Abnormality of body weight	3021	H3-3B	OMIM:619721
HP:0004323	Abnormality of body weight	1528	CYB5A	ORPHA:90796
HP:0004323	Abnormality of body weight	1586	CYP17A1	ORPHA:90796
HP:0004323	Abnormality of body weight	1586	CYP17A1	ORPHA:90793
HP:0004323	Abnormality of body weight	51111	KMT5B	OMIM:617788
HP:0004323	Abnormality of body weight	790	CAD	OMIM:616457
HP:0004323	Abnormality of body weight	6523	SLC5A1	ORPHA:35710
HP:0004323	Abnormality of body weight	6523	SLC5A1	OMIM:606824
HP:0004323	Abnormality of body weight	3284	HSD3B2	ORPHA:90791
HP:0004323	Abnormality of body weight	6440	SFTPC	OMIM:610913
HP:0004323	Abnormality of body weight	23474	ETHE1	ORPHA:51188
HP:0004323	Abnormality of body weight	23474	ETHE1	OMIM:602473
HP:0004323	Abnormality of body weight	137492	VPS37A	ORPHA:319199
HP:0004323	Abnormality of body weight	91869	RFT1	ORPHA:244310
HP:0004323	Abnormality of body weight	91869	RFT1	OMIM:612015
HP:0004323	Abnormality of body weight	4853	NOTCH2	OMIM:102500
HP:0004323	Abnormality of body weight	4853	NOTCH2	ORPHA:955
HP:0004323	Abnormality of body weight	8560	DEGS1	OMIM:618404
HP:0004323	Abnormality of body weight	21	ABCA3	OMIM:610921
HP:0004323	Abnormality of body weight	5567	PRKACB	ORPHA:289
HP:0004323	Abnormality of body weight	2735	GLI1	ORPHA:289
HP:0004323	Abnormality of body weight	2121	EVC	ORPHA:289
HP:0004323	Abnormality of body weight	51626	DYNC2LI1	ORPHA:289
HP:0004323	Abnormality of body weight	132884	EVC2	ORPHA:289
HP:0004323	Abnormality of body weight	652	BMP4	OMIM:607932
HP:0004323	Abnormality of body weight	54872	PIGG	ORPHA:280
HP:0004323	Abnormality of body weight	7469	NELFA	ORPHA:280
HP:0004323	Abnormality of body weight	22872	SEC31A	OMIM:618651
HP:0004323	Abnormality of body weight	54968	TMEM70	OMIM:614052
HP:0004323	Abnormality of body weight	4297	KMT2A	ORPHA:319182
HP:0004323	Abnormality of body weight	4297	KMT2A	OMIM:605130
HP:0004323	Abnormality of body weight	28755	TRAC	OMIM:615387
HP:0004323	Abnormality of body weight	2783	GNB2	OMIM:619503
HP:0004323	Abnormality of body weight	3737	KCNA2	ORPHA:442835
HP:0004323	Abnormality of body weight	1759	DNM1	ORPHA:442835
HP:0004323	Abnormality of body weight	1759	DNM1	OMIM:620352
HP:0004323	Abnormality of body weight	8120	AP3B2	ORPHA:442835
HP:0004323	Abnormality of body weight	10991	SLC38A3	ORPHA:442835
HP:0004323	Abnormality of body weight	22906	TRAK1	ORPHA:442835
HP:0004323	Abnormality of body weight	22906	TRAK1	OMIM:618201
HP:0004323	Abnormality of body weight	2566	GABRG2	ORPHA:442835
HP:0004323	Abnormality of body weight	1917	EEF1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	2561	GABRB2	ORPHA:442835
HP:0004323	Abnormality of body weight	8831	SYNGAP1	ORPHA:442835
HP:0004323	Abnormality of body weight	7532	YWHAG	ORPHA:442835
HP:0004323	Abnormality of body weight	79876	UBA5	ORPHA:442835
HP:0004323	Abnormality of body weight	79876	UBA5	OMIM:617132
HP:0004323	Abnormality of body weight	6328	SCN3A	ORPHA:442835
HP:0004323	Abnormality of body weight	6328	SCN3A	OMIM:617938
HP:0004323	Abnormality of body weight	2558	GABRA5	ORPHA:442835
HP:0004323	Abnormality of body weight	781	CACNA2D1	ORPHA:442835
HP:0004323	Abnormality of body weight	2906	GRIN2D	ORPHA:442835
HP:0004323	Abnormality of body weight	2906	GRIN2D	OMIM:617162
HP:0004323	Abnormality of body weight	10659	CELF2	ORPHA:442835
HP:0004323	Abnormality of body weight	774	CACNA1B	ORPHA:442835
HP:0004323	Abnormality of body weight	1213	CLTC	ORPHA:442835
HP:0004323	Abnormality of body weight	51741	WWOX	ORPHA:442835
HP:0004323	Abnormality of body weight	23334	SZT2	ORPHA:442835
HP:0004323	Abnormality of body weight	51412	ACTL6B	ORPHA:442835
HP:0004323	Abnormality of body weight	348980	HCN1	ORPHA:442835
HP:0004323	Abnormality of body weight	6506	SLC1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	8867	SYNJ1	ORPHA:442835
HP:0004323	Abnormality of body weight	2258	FGF13	ORPHA:442835
HP:0004323	Abnormality of body weight	3745	KCNB1	ORPHA:442835
HP:0004323	Abnormality of body weight	284111	SLC13A5	ORPHA:442835
HP:0004323	Abnormality of body weight	25977	NECAP1	ORPHA:442835
HP:0004323	Abnormality of body weight	6334	SCN8A	ORPHA:442835
HP:0004323	Abnormality of body weight	22866	CNKSR2	ORPHA:442835
HP:0004323	Abnormality of body weight	9568	GABBR2	ORPHA:442835
HP:0004323	Abnormality of body weight	2555	GABRA2	ORPHA:442835
HP:0004323	Abnormality of body weight	55152	DALRD3	ORPHA:442835
HP:0004323	Abnormality of body weight	26999	CYFIP2	ORPHA:442835
HP:0004323	Abnormality of body weight	4915	NTRK2	ORPHA:442835
HP:0004323	Abnormality of body weight	25973	PARS2	ORPHA:442835
HP:0004323	Abnormality of body weight	23097	CDK19	ORPHA:442835
HP:0004323	Abnormality of body weight	64801	ARV1	ORPHA:442835
HP:0004323	Abnormality of body weight	2257	FGF12	ORPHA:442835
HP:0004323	Abnormality of body weight	7092	TLL1	ORPHA:99106
HP:0004323	Abnormality of body weight	8241	RBM10	OMIM:311900
HP:0004323	Abnormality of body weight	8241	RBM10	ORPHA:2886
HP:0004323	Abnormality of body weight	1789	DNMT3B	OMIM:242860
HP:0004323	Abnormality of body weight	10804	GJB6	ORPHA:477
HP:0004323	Abnormality of body weight	2706	GJB2	ORPHA:477
HP:0004323	Abnormality of body weight	9056	SLC7A7	ORPHA:470
HP:0004323	Abnormality of body weight	9056	SLC7A7	OMIM:222700
HP:0004323	Abnormality of body weight	1182	CLCN3	OMIM:619512
HP:0004323	Abnormality of body weight	142680	SLC34A3	OMIM:241530
HP:0004323	Abnormality of body weight	54914	FOCAD	OMIM:619991
HP:0004323	Abnormality of body weight	9453	GGPS1	OMIM:619518
HP:0004323	Abnormality of body weight	2592	GALT	OMIM:230400
HP:0004323	Abnormality of body weight	8021	NUP214	OMIM:618426
HP:0004323	Abnormality of body weight	4191	MDH2	OMIM:617339
HP:0004323	Abnormality of body weight	166785	MMAA	OMIM:251100
HP:0004323	Abnormality of body weight	5551	PRF1	OMIM:603553
HP:0004323	Abnormality of body weight	554	AVPR2	ORPHA:223
HP:0004323	Abnormality of body weight	554	AVPR2	OMIM:304800
HP:0004323	Abnormality of body weight	359	AQP2	ORPHA:223
HP:0004323	Abnormality of body weight	359	AQP2	OMIM:125800
HP:0004323	Abnormality of body weight	9533	POLR1C	OMIM:616494
HP:0004323	Abnormality of body weight	9533	POLR1C	ORPHA:861
HP:0004323	Abnormality of body weight	5971	RELB	OMIM:617585
HP:0004323	Abnormality of body weight	2542	SLC37A4	OMIM:619525
HP:0004323	Abnormality of body weight	2542	SLC37A4	ORPHA:79259
HP:0004323	Abnormality of body weight	57492	ARID1B	ORPHA:251056
HP:0004323	Abnormality of body weight	675	BRCA2	OMIM:605724
HP:0004323	Abnormality of body weight	2271	FH	OMIM:606812
HP:0004323	Abnormality of body weight	57724	EPG5	OMIM:242840
HP:0004323	Abnormality of body weight	51651	PTRH2	OMIM:616263
HP:0004323	Abnormality of body weight	51651	PTRH2	ORPHA:456312
HP:0004323	Abnormality of body weight	5692	PSMB4	OMIM:617591
HP:0004323	Abnormality of body weight	5698	PSMB9	OMIM:617591
HP:0004323	Abnormality of body weight	79989	IFT56	OMIM:619534
HP:0004323	Abnormality of body weight	84522	JAGN1	OMIM:616022
HP:0004323	Abnormality of body weight	3930	LBR	OMIM:169400
HP:0004323	Abnormality of body weight	29929	ALG6	ORPHA:79320
HP:0004323	Abnormality of body weight	79087	ALG12	ORPHA:79324
HP:0004323	Abnormality of body weight	79087	ALG12	OMIM:607143
HP:0004323	Abnormality of body weight	10195	ALG3	OMIM:601110
HP:0004323	Abnormality of body weight	6595	SMARCA2	OMIM:601358
HP:0004323	Abnormality of body weight	27247	NFU1	OMIM:605711
HP:0004323	Abnormality of body weight	6261	RYR1	OMIM:619542
HP:0004323	Abnormality of body weight	6261	RYR1	ORPHA:424107
HP:0004323	Abnormality of body weight	57505	AARS2	OMIM:614096
HP:0004323	Abnormality of body weight	3763	KCNJ6	OMIM:614098
HP:0004323	Abnormality of body weight	3763	KCNJ6	ORPHA:435628
HP:0004323	Abnormality of body weight	6792	CDKL5	ORPHA:1934
HP:0004323	Abnormality of body weight	3736	KCNA1	ORPHA:1934
HP:0004323	Abnormality of body weight	9091	PIGQ	ORPHA:1934
HP:0004323	Abnormality of body weight	2775	GNAO1	ORPHA:1934
HP:0004323	Abnormality of body weight	81603	TRIM8	ORPHA:1934
HP:0004323	Abnormality of body weight	2902	GRIN1	ORPHA:1934
HP:0004323	Abnormality of body weight	79751	SLC25A22	ORPHA:1934
HP:0004323	Abnormality of body weight	150094	SIK1	ORPHA:1934
HP:0004323	Abnormality of body weight	23312	DMXL2	ORPHA:1934
HP:0004323	Abnormality of body weight	170302	ARX	ORPHA:1934
HP:0004323	Abnormality of body weight	11284	PNKP	ORPHA:1934
HP:0004323	Abnormality of body weight	6326	SCN2A	ORPHA:1934
HP:0004323	Abnormality of body weight	51227	PIGP	ORPHA:1934
HP:0004323	Abnormality of body weight	6324	SCN1B	ORPHA:1934
HP:0004323	Abnormality of body weight	4761	NEUROD2	ORPHA:1934
HP:0004323	Abnormality of body weight	204	AK2	ORPHA:33355
HP:0004323	Abnormality of body weight	846	CASR	OMIM:239200
HP:0004323	Abnormality of body weight	4594	MMUT	ORPHA:79312
HP:0004323	Abnormality of body weight	4594	MMUT	OMIM:251000
HP:0004323	Abnormality of body weight	54808	DYM	ORPHA:239
HP:0004323	Abnormality of body weight	973	CD79A	ORPHA:33110
HP:0004323	Abnormality of body weight	973	CD79A	OMIM:613501
HP:0004323	Abnormality of body weight	974	CD79B	ORPHA:33110
HP:0004323	Abnormality of body weight	3543	IGLL1	ORPHA:33110
HP:0004323	Abnormality of body weight	29760	BLNK	ORPHA:33110
HP:0004323	Abnormality of body weight	5295	PIK3R1	ORPHA:33110
HP:0004323	Abnormality of body weight	56262	LRRC8A	ORPHA:33110
HP:0004323	Abnormality of body weight	84706	GPT2	OMIM:616281
HP:0004323	Abnormality of body weight	84706	GPT2	ORPHA:477673
HP:0004323	Abnormality of body weight	5076	PAX2	ORPHA:97362
HP:0004323	Abnormality of body weight	5087	PBX1	ORPHA:97362
HP:0004323	Abnormality of body weight	30000	TNPO2	OMIM:619556
HP:0004323	Abnormality of body weight	54892	NCAPG2	OMIM:618460
HP:0004323	Abnormality of body weight	498	ATP5F1A	OMIM:616045
HP:0004323	Abnormality of body weight	498	ATP5F1A	OMIM:620358
HP:0004323	Abnormality of body weight	79705	LRRK1	OMIM:615198
HP:0004323	Abnormality of body weight	51728	POLR3K	OMIM:619310
HP:0004323	Abnormality of body weight	8818	DPM2	ORPHA:329178
HP:0004323	Abnormality of body weight	256297	PTF1A	OMIM:609069
HP:0004323	Abnormality of body weight	2627	GATA6	OMIM:600001
HP:0004323	Abnormality of body weight	2627	GATA6	ORPHA:2255
HP:0004323	Abnormality of body weight	58484	NLRC4	OMIM:616050
HP:0004323	Abnormality of body weight	1387	CREBBP	ORPHA:353281
HP:0004323	Abnormality of body weight	1387	CREBBP	OMIM:180849
HP:0004323	Abnormality of body weight	1387	CREBBP	ORPHA:353277
HP:0004323	Abnormality of body weight	26275	HIBCH	ORPHA:88639
HP:0004323	Abnormality of body weight	26275	HIBCH	OMIM:250620
HP:0004323	Abnormality of body weight	29998	BICRA	OMIM:619325
HP:0004323	Abnormality of body weight	22861	NLRP1	OMIM:617388
HP:0004323	Abnormality of body weight	2033	EP300	ORPHA:353284
HP:0004323	Abnormality of body weight	2033	EP300	OMIM:180849
HP:0004323	Abnormality of body weight	10166	SLC25A15	ORPHA:415
HP:0004323	Abnormality of body weight	10166	SLC25A15	OMIM:238970
HP:0004323	Abnormality of body weight	79068	FTO	OMIM:612938
HP:0004323	Abnormality of body weight	8869	ST3GAL5	OMIM:609056
HP:0004323	Abnormality of body weight	57551	TAOK1	OMIM:619575
HP:0004323	Abnormality of body weight	2530	FUT8	OMIM:618005
HP:0004323	Abnormality of body weight	1956	EGFR	OMIM:616069
HP:0004323	Abnormality of body weight	54496	PRMT7	OMIM:617157
HP:0004323	Abnormality of body weight	7019	TFAM	OMIM:617156
HP:0004323	Abnormality of body weight	3394	IRF8	OMIM:226990
HP:0004323	Abnormality of body weight	5831	PYCR1	OMIM:612940
HP:0004323	Abnormality of body weight	29920	PYCR2	ORPHA:481152
HP:0004323	Abnormality of body weight	29920	PYCR2	OMIM:616420
HP:0004323	Abnormality of body weight	22845	DOLK	OMIM:610768
HP:0004323	Abnormality of body weight	22845	DOLK	ORPHA:91131
HP:0004323	Abnormality of body weight	10483	SEC23B	ORPHA:201
HP:0004323	Abnormality of body weight	5728	PTEN	ORPHA:201
HP:0004323	Abnormality of body weight	6390	SDHB	ORPHA:201
HP:0004323	Abnormality of body weight	6392	SDHD	ORPHA:201
HP:0004323	Abnormality of body weight	6391	SDHC	ORPHA:201
HP:0004323	Abnormality of body weight	207	AKT1	ORPHA:201
HP:0004323	Abnormality of body weight	205717	USF3	ORPHA:201
HP:0004323	Abnormality of body weight	5290	PIK3CA	ORPHA:201
HP:0004323	Abnormality of body weight	5290	PIK3CA	ORPHA:60040
HP:0004323	Abnormality of body weight	100144748	KLLN	ORPHA:201
HP:0004323	Abnormality of body weight	80324	PUS1	OMIM:600462
HP:0004323	Abnormality of body weight	25942	SIN3A	ORPHA:94065
HP:0004323	Abnormality of body weight	191	AHCY	ORPHA:88618
HP:0004323	Abnormality of body weight	191	AHCY	OMIM:613752
HP:0004323	Abnormality of body weight	9496	TBX4	ORPHA:261279
HP:0004323	Abnormality of body weight	8091	HMGA2	ORPHA:94063
HP:0004323	Abnormality of body weight	23592	LEMD3	ORPHA:94063
HP:0004323	Abnormality of body weight	26276	VPS33B	OMIM:208085
HP:0004323	Abnormality of body weight	4714	NDUFB8	OMIM:618252
HP:0004323	Abnormality of body weight	4714	NDUFB8	ORPHA:70474
HP:0004323	Abnormality of body weight	84701	COX4I2	OMIM:612714
HP:0004323	Abnormality of body weight	2628	GATM	OMIM:612718
HP:0004323	Abnormality of body weight	9791	PTDSS1	OMIM:151050
HP:0004323	Abnormality of body weight	11340	EXOSC8	OMIM:616081
HP:0004323	Abnormality of body weight	11340	EXOSC8	ORPHA:2254
HP:0004323	Abnormality of body weight	35	ACADS	OMIM:201470
HP:0004323	Abnormality of body weight	35	ACADS	ORPHA:26792
HP:0004323	Abnormality of body weight	9420	CYP7B1	OMIM:613812
HP:0004323	Abnormality of body weight	55636	CHD7	ORPHA:39041
HP:0004323	Abnormality of body weight	3575	IL7R	ORPHA:39041
HP:0004323	Abnormality of body weight	3575	IL7R	ORPHA:169154
HP:0004323	Abnormality of body weight	84172	POLR1B	ORPHA:861
HP:0004323	Abnormality of body weight	51082	POLR1D	ORPHA:861
HP:0004323	Abnormality of body weight	6949	TCOF1	ORPHA:861
HP:0004323	Abnormality of body weight	374354	NHLRC2	OMIM:618278
HP:0004323	Abnormality of body weight	440138	ALG11	ORPHA:280071
HP:0004323	Abnormality of body weight	23287	AGTPBP1	OMIM:618276
HP:0004323	Abnormality of body weight	23287	AGTPBP1	ORPHA:2254
HP:0004323	Abnormality of body weight	64093	SMOC1	OMIM:206920
HP:0004323	Abnormality of body weight	64093	SMOC1	ORPHA:1106
HP:0004323	Abnormality of body weight	6299	SALL1	ORPHA:857
HP:0004323	Abnormality of body weight	51339	DACT1	ORPHA:857
HP:0004323	Abnormality of body weight	55898	UNC45A	OMIM:619377
HP:0004323	Abnormality of body weight	23636	NUP62	ORPHA:225154
HP:0004323	Abnormality of body weight	23636	NUP62	OMIM:271930
HP:0004323	Abnormality of body weight	103	ADAR	ORPHA:225154
HP:0004323	Abnormality of body weight	51371	POMP	OMIM:618048
HP:0004323	Abnormality of body weight	2332	FMR1	ORPHA:261483
HP:0004323	Abnormality of body weight	1984	EIF5A	OMIM:619376
HP:0004323	Abnormality of body weight	210	ALAD	OMIM:612740
HP:0004323	Abnormality of body weight	1583	CYP11A1	ORPHA:168558
HP:0004323	Abnormality of body weight	1583	CYP11A1	ORPHA:289548
HP:0004323	Abnormality of body weight	3295	HSD17B4	OMIM:261515
HP:0004323	Abnormality of body weight	2581	GALC	ORPHA:206436
HP:0004323	Abnormality of body weight	2581	GALC	OMIM:245200
HP:0004323	Abnormality of body weight	5660	PSAP	ORPHA:206436
HP:0004323	Abnormality of body weight	4693	NDP	ORPHA:649
HP:0004323	Abnormality of body weight	124454	EARS2	OMIM:614924
HP:0004323	Abnormality of body weight	23522	KAT6B	ORPHA:3047
HP:0004323	Abnormality of body weight	11011	TLK2	OMIM:618050
HP:0004323	Abnormality of body weight	3735	KARS1	OMIM:619147
HP:0004323	Abnormality of body weight	54938	SARS2	OMIM:613845
HP:0004323	Abnormality of body weight	6584	SLC22A5	OMIM:212140
HP:0004323	Abnormality of body weight	11113	CIT	OMIM:617090
HP:0004323	Abnormality of body weight	4702	NDUFA8	OMIM:619272
HP:0004323	Abnormality of body weight	10128	LRPPRC	OMIM:220111
HP:0004323	Abnormality of body weight	10128	LRPPRC	ORPHA:70472
HP:0004323	Abnormality of body weight	10134	BCAP31	OMIM:300475
HP:0004323	Abnormality of body weight	10134	BCAP31	ORPHA:369939
HP:0004323	Abnormality of body weight	3376	IARS1	OMIM:617093
HP:0004323	Abnormality of body weight	259232	NALCN	ORPHA:2053
HP:0004323	Abnormality of body weight	91574	MTRFR	ORPHA:254930
HP:0004323	Abnormality of body weight	91574	MTRFR	OMIM:613559
HP:0004323	Abnormality of body weight	4570	MT-TN	OMIM:220110
HP:0004323	Abnormality of body weight	10274	STAG1	ORPHA:502434
HP:0004323	Abnormality of body weight	4774	NFIA	OMIM:613735
HP:0004323	Abnormality of body weight	8496	PPFIBP1	OMIM:620024
HP:0004323	Abnormality of body weight	8443	GNPAT	OMIM:222765
HP:0004323	Abnormality of body weight	6341	SCO1	OMIM:619048
HP:0004323	Abnormality of body weight	162	AP1B1	OMIM:242150
HP:0004323	Abnormality of body weight	1352	COX10	OMIM:619046
HP:0004323	Abnormality of body weight	55163	PNPO	ORPHA:79096
HP:0004323	Abnormality of body weight	55163	PNPO	OMIM:610090
HP:0004323	Abnormality of body weight	7535	ZAP70	OMIM:269840
HP:0004323	Abnormality of body weight	7535	ZAP70	ORPHA:911
HP:0004323	Abnormality of body weight	7298	TYMS	OMIM:620040
HP:0004323	Abnormality of body weight	105371045	PERCC1	ORPHA:92050
HP:0004323	Abnormality of body weight	51360	MBTPS2	ORPHA:2273
HP:0004323	Abnormality of body weight	8647	ABCB11	OMIM:601847
HP:0004323	Abnormality of body weight	3899	AFF3	OMIM:619297
HP:0004323	Abnormality of body weight	1136	CHRNA3	OMIM:191800
HP:0004323	Abnormality of body weight	6499	SKIC2	OMIM:614602
HP:0004323	Abnormality of body weight	340061	STING1	OMIM:615934
HP:0004323	Abnormality of body weight	3117	HLA-DQA1	OMIM:212750
HP:0004323	Abnormality of body weight	3119	HLA-DQB1	OMIM:212750
HP:0004323	Abnormality of body weight	55107	ANO1	OMIM:620045
HP:0004323	Abnormality of body weight	7080	NKX2-1	ORPHA:209905
HP:0004323	Abnormality of body weight	5095	PCCA	OMIM:606054
HP:0004323	Abnormality of body weight	5096	PCCB	OMIM:606054
HP:0004323	Abnormality of body weight	1717	DHCR7	OMIM:270400
HP:0004323	Abnormality of body weight	58	ACTA1	ORPHA:2020
HP:0004323	Abnormality of body weight	4633	MYL2	ORPHA:2020
HP:0004323	Abnormality of body weight	3679	ITGA7	ORPHA:2020
HP:0004323	Abnormality of body weight	7169	TPM2	ORPHA:2020
HP:0004323	Abnormality of body weight	9200	HACD1	ORPHA:2020
HP:0004323	Abnormality of body weight	51776	MAP3K20	ORPHA:2020
HP:0004323	Abnormality of body weight	132158	GLYCTK	OMIM:220120
HP:0004323	Abnormality of body weight	28976	ACAD9	ORPHA:99901
HP:0004323	Abnormality of body weight	5826	ABCD4	OMIM:614857
HP:0004323	Abnormality of body weight	338328	GPIHBP1	OMIM:615947
HP:0004323	Abnormality of body weight	2697	GJA1	OMIM:257850
HP:0004323	Abnormality of body weight	6521	SLC4A1	OMIM:611590
HP:0004323	Abnormality of body weight	9255	AIMP1	OMIM:260600
HP:0004323	Abnormality of body weight	51010	EXOSC3	ORPHA:2254
HP:0004323	Abnormality of body weight	7443	VRK1	ORPHA:2254
HP:0004323	Abnormality of body weight	91137	SLC25A46	ORPHA:2254
HP:0004323	Abnormality of body weight	23600	AMACR	OMIM:214950
HP:0004323	Abnormality of body weight	6609	SMPD1	OMIM:257200
HP:0004323	Abnormality of body weight	5700	PSMC1	OMIM:620071
HP:0004323	Abnormality of body weight	190	NR0B1	OMIM:300200
HP:0004323	Abnormality of body weight	58508	KMT2C	ORPHA:261652
HP:0004323	Abnormality of body weight	2548	GAA	ORPHA:308552
HP:0004323	Abnormality of body weight	5159	PDGFRB	OMIM:601812
HP:0004323	Abnormality of body weight	4306	NR3C2	OMIM:177735
HP:0004323	Abnormality of body weight	1811	SLC26A3	OMIM:214700
HP:0004323	Abnormality of body weight	5832	ALDH18A1	OMIM:219150
HP:0004323	Abnormality of body weight	3187	HNRNPH1	OMIM:620083
HP:0004323	Abnormality of body weight	9342	SNAP29	OMIM:609528
HP:0004323	Abnormality of body weight	64220	STRA6	ORPHA:2470
HP:0004323	Abnormality of body weight	5915	RARB	ORPHA:2470
HP:0004323	Abnormality of body weight	23483	TGDS	ORPHA:1388
HP:0004323	Abnormality of body weight	8195	MKKS	ORPHA:2473
HP:0004323	Abnormality of body weight	51750	RTEL1	ORPHA:3322
HP:0004323	Abnormality of body weight	65057	ACD	ORPHA:3322
HP:0004323	Abnormality of body weight	26277	TINF2	ORPHA:3322
HP:0004323	Abnormality of body weight	1736	DKC1	ORPHA:3322
HP:0004323	Abnormality of body weight	51067	YARS2	OMIM:613561
HP:0004323	Abnormality of body weight	2702	GJA5	OMIM:612474
HP:0004323	Abnormality of body weight	2703	GJA8	OMIM:612474
HP:0004323	Abnormality of body weight	867	CBL	OMIM:613563
HP:0004323	Abnormality of body weight	55690	PACS1	ORPHA:329224
HP:0004323	Abnormality of body weight	79628	SH3TC2	ORPHA:99949
HP:0004323	Abnormality of body weight	6307	MSMO1	OMIM:616834
HP:0004323	Abnormality of body weight	2200	FBN1	ORPHA:2462
HP:0004323	Abnormality of body weight	55112	DYNC2I1	OMIM:615503
HP:0004323	Abnormality of body weight	63895	PIEZO2	ORPHA:2461
HP:0004323	Abnormality of body weight	1828	DSG1	OMIM:615508
HP:0004323	Abnormality of body weight	6888	TALDO1	OMIM:606003
HP:0004323	Abnormality of body weight	865	CBFB	OMIM:620099
HP:0004323	Abnormality of body weight	2068	ERCC2	ORPHA:910
HP:0004323	Abnormality of body weight	7507	XPA	ORPHA:910
HP:0004323	Abnormality of body weight	2071	ERCC3	ORPHA:910
HP:0004323	Abnormality of body weight	7508	XPC	ORPHA:910
HP:0004323	Abnormality of body weight	1643	DDB2	ORPHA:910
HP:0004323	Abnormality of body weight	2073	ERCC5	ORPHA:910
HP:0004323	Abnormality of body weight	5122	PCSK1	ORPHA:71528
HP:0004323	Abnormality of body weight	2632	GBE1	OMIM:232500
HP:0004323	Abnormality of body weight	7167	TPI1	OMIM:615512
HP:0004323	Abnormality of body weight	100151683	RNU4ATAC	OMIM:210710
HP:0004323	Abnormality of body weight	3932	LCK	OMIM:615758
HP:0004323	Abnormality of body weight	5443	POMC	ORPHA:71526
HP:0004323	Abnormality of body weight	5250	SLC25A3	ORPHA:91130
HP:0004323	Abnormality of body weight	4173	MCM4	OMIM:609981
HP:0004323	Abnormality of body weight	8050	PDHX	ORPHA:255182
HP:0004323	Abnormality of body weight	10157	AASS	ORPHA:2203
HP:0004323	Abnormality of body weight	23095	KIF1B	OMIM:256700
HP:0004323	Abnormality of body weight	55784	MCTP2	ORPHA:1596
HP:0004323	Abnormality of body weight	59067	IL21	OMIM:615767
HP:0004323	Abnormality of body weight	51116	MRPS2	OMIM:617950
HP:0004323	Abnormality of body weight	9512	PMPCB	OMIM:617954
HP:0004323	Abnormality of body weight	2058	EPRS1	OMIM:617951
HP:0004323	Abnormality of body weight	10095	ARPC1B	OMIM:617718
HP:0004323	Abnormality of body weight	91647	ATPAF2	OMIM:604273
HP:0004323	Abnormality of body weight	3758	KCNJ1	OMIM:241200
HP:0004323	Abnormality of body weight	54664	TMEM106B	OMIM:617964
HP:0004323	Abnormality of body weight	7421	VDR	OMIM:277440
HP:0004323	Abnormality of body weight	89874	SLC25A21	OMIM:618811
HP:0004323	Abnormality of body weight	55644	OSGEP	OMIM:617729
HP:0004323	Abnormality of body weight	2584	GALK1	ORPHA:79237
HP:0004323	Abnormality of body weight	7874	USP7	ORPHA:500055
HP:0004323	Abnormality of body weight	51501	HIKESHI	OMIM:616881
HP:0004323	Abnormality of body weight	23233	EXOC6B	ORPHA:93359
HP:0004323	Abnormality of body weight	5205	ATP8B1	OMIM:211600
HP:0004323	Abnormality of body weight	6925	TCF4	ORPHA:2896
HP:0004323	Abnormality of body weight	189	AGXT	ORPHA:93598
HP:0004323	Abnormality of body weight	9997	SCO2	ORPHA:70474
HP:0004323	Abnormality of body weight	7204	TRIO	ORPHA:476126
HP:0004323	Abnormality of body weight	4780	NFE2L2	OMIM:617744
HP:0004323	Abnormality of body weight	11005	SPINK5	OMIM:256500
HP:0004323	Abnormality of body weight	2670	GFAP	ORPHA:363717
HP:0004323	Abnormality of body weight	5500	PPP1CB	OMIM:617506
HP:0004323	Abnormality of body weight	54676	GTPBP2	OMIM:617988
HP:0004323	Abnormality of body weight	100506658	OCLN	OMIM:251290
HP:0004323	Abnormality of body weight	6519	SLC3A1	ORPHA:163690
HP:0004323	Abnormality of body weight	6519	SLC3A1	ORPHA:163693
HP:0004323	Abnormality of body weight	9581	PREPL	ORPHA:163690
HP:0004323	Abnormality of body weight	9581	PREPL	ORPHA:163693
HP:0004323	Abnormality of body weight	5495	PPM1B	ORPHA:163693
HP:0004323	Abnormality of body weight	79823	CAMKMT	ORPHA:163693
HP:0004323	Abnormality of body weight	9414	TJP2	OMIM:607748
HP:0004323	Abnormality of body weight	4841	NONO	ORPHA:466791
HP:0004323	Abnormality of body weight	2819	GPD1	OMIM:614480
HP:0004323	Abnormality of body weight	440	ASNS	OMIM:615574
HP:0004323	Abnormality of body weight	27040	LAT	OMIM:617514
HP:0004323	Abnormality of body weight	738	VPS51	OMIM:618606
HP:0004323	Abnormality of body weight	8815	BANF1	OMIM:614008
HP:0004323	Abnormality of body weight	25974	MMACHC	ORPHA:79282
HP:0004323	Abnormality of body weight	25974	MMACHC	OMIM:277400
HP:0004323	Abnormality of body weight	27249	MMADHC	ORPHA:79283
HP:0004323	Abnormality of body weight	5430	POLR2A	OMIM:618603
HP:0004323	Abnormality of body weight	6223	RPS19	OMIM:105650
HP:0004323	Abnormality of body weight	2639	GCDH	OMIM:231670
HP:0004323	Abnormality of body weight	101929726	MYMX	OMIM:619941
HP:0004323	Abnormality of body weight	8803	SUCLA2	OMIM:612073
HP:0004323	Abnormality of body weight	92935	MARS2	OMIM:616430
HP:0004323	Abnormality of body weight	79587	CARS2	OMIM:616672
HP:0004323	Abnormality of body weight	7372	UMPS	OMIM:258900
HP:0004323	Abnormality of body weight	55753	OGDHL	OMIM:619701
HP:0004323	Abnormality of body weight	5052	PRDX1	OMIM:277400
HP:0004323	Abnormality of body weight	2582	GALE	OMIM:230350
HP:0004323	Abnormality of body weight	27316	RBMX	OMIM:300238
HP:0004323	Abnormality of body weight	63036	CELA2A	OMIM:618620
HP:0004323	Abnormality of body weight	583	BBS2	OMIM:616562
HP:0004323	Abnormality of body weight	583	BBS2	ORPHA:110
HP:0004323	Abnormality of body weight	583	BBS2	OMIM:615981
HP:0004323	Abnormality of body weight	583	BBS2	ORPHA:791
HP:0004323	Abnormality of body weight	10159	ATP6AP2	ORPHA:93952
HP:0004323	Abnormality of body weight	149775	GNAS-AS1	OMIM:603233
HP:0004323	Abnormality of body weight	8675	STX16	OMIM:603233
HP:0004323	Abnormality of body weight	7552	ZNF711	OMIM:300803
HP:0004323	Abnormality of body weight	9915	ARNT2	OMIM:615926
HP:0004323	Abnormality of body weight	9915	ARNT2	ORPHA:3157
HP:0004323	Abnormality of body weight	6926	TBX3	ORPHA:3138
HP:0004323	Abnormality of body weight	6926	TBX3	OMIM:181450
HP:0004323	Abnormality of body weight	1300	COL10A1	ORPHA:174
HP:0004323	Abnormality of body weight	28958	COA3	OMIM:619058
HP:0004323	Abnormality of body weight	9739	SETD1A	OMIM:619056
HP:0004323	Abnormality of body weight	80204	FBXO11	OMIM:618089
HP:0004323	Abnormality of body weight	9692	PRORP	OMIM:619737
HP:0004323	Abnormality of body weight	3952	LEP	OMIM:614962
HP:0004323	Abnormality of body weight	3952	LEP	ORPHA:66628
HP:0004323	Abnormality of body weight	2770	GNAI1	OMIM:619854
HP:0004323	Abnormality of body weight	22897	CEP164	OMIM:614845
HP:0004323	Abnormality of body weight	3953	LEPR	OMIM:614963
HP:0004323	Abnormality of body weight	3953	LEPR	ORPHA:179494
HP:0004323	Abnormality of body weight	1581	CYP7A1	ORPHA:209902
HP:0004323	Abnormality of body weight	23116	TOGARAM1	OMIM:619185
HP:0004323	Abnormality of body weight	6872	TAF1	ORPHA:480907
HP:0004323	Abnormality of body weight	57531	HACE1	ORPHA:464282
HP:0004323	Abnormality of body weight	57531	HACE1	OMIM:616756
HP:0004323	Abnormality of body weight	1656	DDX6	OMIM:618653
HP:0004323	Abnormality of body weight	5144	PDE4D	OMIM:614613
HP:0004323	Abnormality of body weight	5144	PDE4D	ORPHA:439822
HP:0004323	Abnormality of body weight	5144	PDE4D	ORPHA:280651
HP:0004323	Abnormality of body weight	1954	MEGF8	OMIM:614976
HP:0004323	Abnormality of body weight	1954	MEGF8	ORPHA:65759
HP:0004323	Abnormality of body weight	84984	CEP19	OMIM:615703
HP:0004323	Abnormality of body weight	84984	CEP19	ORPHA:110
HP:0004323	Abnormality of body weight	5080	PAX6	OMIM:194072
HP:0004323	Abnormality of body weight	5080	PAX6	ORPHA:893
HP:0004323	Abnormality of body weight	30011	SH3KBP1	OMIM:300310
HP:0004323	Abnormality of body weight	92482	BBIP1	ORPHA:110
HP:0004323	Abnormality of body weight	92482	BBIP1	OMIM:615995
HP:0004323	Abnormality of body weight	80184	CEP290	ORPHA:110
HP:0004323	Abnormality of body weight	80184	CEP290	OMIM:615991
HP:0004323	Abnormality of body weight	11020	IFT27	ORPHA:110
HP:0004323	Abnormality of body weight	11020	IFT27	OMIM:615996
HP:0004323	Abnormality of body weight	49855	SCAPER	ORPHA:110
HP:0004323	Abnormality of body weight	49855	SCAPER	ORPHA:791
HP:0004323	Abnormality of body weight	4867	NPHP1	ORPHA:110
HP:0004323	Abnormality of body weight	51057	WDPCP	ORPHA:110
HP:0004323	Abnormality of body weight	22954	TRIM32	ORPHA:110
HP:0004323	Abnormality of body weight	22954	TRIM32	OMIM:615988
HP:0004323	Abnormality of body weight	54903	MKS1	ORPHA:110
HP:0004323	Abnormality of body weight	54903	MKS1	OMIM:615990
HP:0004323	Abnormality of body weight	79738	BBS10	ORPHA:110
HP:0004323	Abnormality of body weight	79738	BBS10	OMIM:615987
HP:0004323	Abnormality of body weight	123016	TTC8	ORPHA:110
HP:0004323	Abnormality of body weight	123016	TTC8	OMIM:615985
HP:0004323	Abnormality of body weight	123016	TTC8	ORPHA:791
HP:0004323	Abnormality of body weight	123016	TTC8	OMIM:613464
HP:0004323	Abnormality of body weight	26160	IFT172	ORPHA:110
HP:0004323	Abnormality of body weight	26160	IFT172	ORPHA:791
HP:0004323	Abnormality of body weight	26160	IFT172	OMIM:615630
HP:0004323	Abnormality of body weight	26160	IFT172	OMIM:619471
HP:0004323	Abnormality of body weight	585	BBS4	ORPHA:110
HP:0004323	Abnormality of body weight	585	BBS4	OMIM:615982
HP:0004323	Abnormality of body weight	54585	LZTFL1	ORPHA:110
HP:0004323	Abnormality of body weight	54585	LZTFL1	OMIM:615994
HP:0004323	Abnormality of body weight	55212	BBS7	ORPHA:110
HP:0004323	Abnormality of body weight	55212	BBS7	OMIM:615984
HP:0004323	Abnormality of body weight	166379	BBS12	ORPHA:110
HP:0004323	Abnormality of body weight	166379	BBS12	OMIM:615989
HP:0004323	Abnormality of body weight	10806	SDCCAG8	ORPHA:110
HP:0004323	Abnormality of body weight	10806	SDCCAG8	OMIM:615993
HP:0004323	Abnormality of body weight	129880	BBS5	ORPHA:110
HP:0004323	Abnormality of body weight	129880	BBS5	OMIM:615983
HP:0004323	Abnormality of body weight	57498	KIDINS220	ORPHA:521390
HP:0004323	Abnormality of body weight	57498	KIDINS220	OMIM:617296
HP:0004323	Abnormality of body weight	27125	AFF4	OMIM:616368
HP:0004323	Abnormality of body weight	27125	AFF4	ORPHA:444077
HP:0004323	Abnormality of body weight	4808	NHLH2	OMIM:619755
HP:0004323	Abnormality of body weight	4771	NF2	ORPHA:2495
HP:0004323	Abnormality of body weight	6598	SMARCB1	ORPHA:2495
HP:0004323	Abnormality of body weight	5155	PDGFB	ORPHA:2495
HP:0004323	Abnormality of body weight	84231	TRAF7	ORPHA:2495
HP:0004323	Abnormality of body weight	6605	SMARCE1	ORPHA:2495
HP:0004323	Abnormality of body weight	7337	UBE3A	OMIM:105830
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:98794
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:411511
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:411515
HP:0004323	Abnormality of body weight	55027	HEATR3	OMIM:620072
HP:0004323	Abnormality of body weight	283209	PGM2L1	OMIM:620191
HP:0004323	Abnormality of body weight	6942	TCF20	OMIM:618430
HP:0004323	Abnormality of body weight	4205	MEF2A	OMIM:608320
HP:0004323	Abnormality of body weight	6473	SHOX	ORPHA:314795
HP:0004323	Abnormality of body weight	124583	CANT1	OMIM:251450
HP:0004323	Abnormality of body weight	7030	TFE3	OMIM:301066
HP:0004323	Abnormality of body weight	23162	MAPK8IP3	OMIM:618443
HP:0004323	Abnormality of body weight	51199	NIN	ORPHA:319675
HP:0004323	Abnormality of body weight	2273	FHL1	ORPHA:98863
HP:0004323	Abnormality of body weight	2010	EMD	ORPHA:98863
HP:0004323	Abnormality of body weight	1642	DDB1	OMIM:619426
HP:0004323	Abnormality of body weight	10371	SEMA3A	ORPHA:478
HP:0004323	Abnormality of body weight	23767	FLRT3	ORPHA:478
HP:0004323	Abnormality of body weight	79625	NDNF	ORPHA:478
HP:0004323	Abnormality of body weight	389549	FEZF1	ORPHA:478
HP:0004323	Abnormality of body weight	1630	DCC	ORPHA:478
HP:0004323	Abnormality of body weight	54756	IL17RD	ORPHA:478
HP:0004323	Abnormality of body weight	6663	SOX10	ORPHA:478
HP:0004323	Abnormality of body weight	285025	CCDC141	ORPHA:478
HP:0004323	Abnormality of body weight	79188	TMEM43	ORPHA:98853
HP:0004323	Abnormality of body weight	23224	SYNE2	ORPHA:98853
HP:0004323	Abnormality of body weight	55217	TMLHE	OMIM:300872
HP:0004323	Abnormality of body weight	92840	REEP6	ORPHA:791
HP:0004323	Abnormality of body weight	6094	ROM1	ORPHA:791
HP:0004323	Abnormality of body weight	6017	RLBP1	ORPHA:791
HP:0004323	Abnormality of body weight	7401	CLRN1	ORPHA:791
HP:0004323	Abnormality of body weight	24	ABCA4	ORPHA:791
HP:0004323	Abnormality of body weight	130557	ZNF513	ORPHA:791
HP:0004323	Abnormality of body weight	92211	CDHR1	ORPHA:791
HP:0004323	Abnormality of body weight	23568	ARL2BP	ORPHA:791
HP:0004323	Abnormality of body weight	6121	RPE65	ORPHA:791
HP:0004323	Abnormality of body weight	54806	AHI1	ORPHA:791
HP:0004323	Abnormality of body weight	6101	RP1	ORPHA:791
HP:0004323	Abnormality of body weight	3419	IDH3A	ORPHA:791
HP:0004323	Abnormality of body weight	4751	NEK2	ORPHA:791
HP:0004323	Abnormality of body weight	346007	EYS	ORPHA:791
HP:0004323	Abnormality of body weight	8100	IFT88	ORPHA:791
HP:0004323	Abnormality of body weight	23020	SNRNP200	ORPHA:791
HP:0004323	Abnormality of body weight	762	CA4	ORPHA:791
HP:0004323	Abnormality of body weight	138050	HGSNAT	ORPHA:791
HP:0004323	Abnormality of body weight	196	AHR	ORPHA:791
HP:0004323	Abnormality of body weight	3614	IMPDH1	ORPHA:791
HP:0004323	Abnormality of body weight	6103	RPGR	ORPHA:791
HP:0004323	Abnormality of body weight	1406	CRX	ORPHA:791
HP:0004323	Abnormality of body weight	5148	PDE6G	ORPHA:791
HP:0004323	Abnormality of body weight	26121	PRPF31	ORPHA:791
HP:0004323	Abnormality of body weight	4117	MAK	ORPHA:791
HP:0004323	Abnormality of body weight	25794	FSCN2	ORPHA:791
HP:0004323	Abnormality of body weight	375298	CERKL	ORPHA:791
HP:0004323	Abnormality of body weight	3420	IDH3B	ORPHA:791
HP:0004323	Abnormality of body weight	57670	KIAA1549	ORPHA:791
HP:0004323	Abnormality of body weight	7275	TUB	ORPHA:791
HP:0004323	Abnormality of body weight	7275	TUB	OMIM:616188
HP:0004323	Abnormality of body weight	24148	PRPF6	ORPHA:791
HP:0004323	Abnormality of body weight	23418	CRB1	ORPHA:791
HP:0004323	Abnormality of body weight	10461	MERTK	ORPHA:791
HP:0004323	Abnormality of body weight	57709	SLC7A14	ORPHA:791
HP:0004323	Abnormality of body weight	768206	PRCD	ORPHA:791
HP:0004323	Abnormality of body weight	7399	USH2A	ORPHA:791
HP:0004323	Abnormality of body weight	23370	ARHGEF18	ORPHA:791
HP:0004323	Abnormality of body weight	5949	RBP3	ORPHA:791
HP:0004323	Abnormality of body weight	6010	RHO	ORPHA:791
HP:0004323	Abnormality of body weight	6100	RP9	ORPHA:791
HP:0004323	Abnormality of body weight	10002	NR2E3	ORPHA:791
HP:0004323	Abnormality of body weight	9227	LRAT	ORPHA:791
HP:0004323	Abnormality of body weight	84140	FAM161A	ORPHA:791
HP:0004323	Abnormality of body weight	55812	SPATA7	ORPHA:791
HP:0004323	Abnormality of body weight	55624	POMGNT1	ORPHA:791
HP:0004323	Abnormality of body weight	79797	ZNF408	ORPHA:791
HP:0004323	Abnormality of body weight	403	ARL3	ORPHA:791
HP:0004323	Abnormality of body weight	5145	PDE6A	ORPHA:791
HP:0004323	Abnormality of body weight	8842	PROM1	ORPHA:791
HP:0004323	Abnormality of body weight	9128	PRPF4	ORPHA:791
HP:0004323	Abnormality of body weight	145226	RDH12	ORPHA:791
HP:0004323	Abnormality of body weight	50939	IMPG2	ORPHA:791
HP:0004323	Abnormality of body weight	2979	GUCA1B	ORPHA:791
HP:0004323	Abnormality of body weight	1259	CNGA1	ORPHA:791
HP:0004323	Abnormality of body weight	1258	CNGB1	ORPHA:791
HP:0004323	Abnormality of body weight	60509	AGBL5	ORPHA:791
HP:0004323	Abnormality of body weight	5961	PRPH2	ORPHA:791
HP:0004323	Abnormality of body weight	388939	PCARE	ORPHA:791
HP:0004323	Abnormality of body weight	7439	BEST1	ORPHA:791
HP:0004323	Abnormality of body weight	9785	DHX38	ORPHA:791
HP:0004323	Abnormality of body weight	7287	TULP1	ORPHA:791
HP:0004323	Abnormality of body weight	5995	RGR	ORPHA:791
HP:0004323	Abnormality of body weight	9129	PRPF3	ORPHA:791
HP:0004323	Abnormality of body weight	55975	KLHL7	ORPHA:791
HP:0004323	Abnormality of body weight	3617	IMPG1	ORPHA:791
HP:0004323	Abnormality of body weight	94137	RP1L1	ORPHA:791
HP:0004323	Abnormality of body weight	5158	PDE6B	ORPHA:791
HP:0004323	Abnormality of body weight	6102	RP2	ORPHA:791
HP:0004323	Abnormality of body weight	55857	KIZ	ORPHA:791
HP:0004323	Abnormality of body weight	4901	NRL	ORPHA:791
HP:0004323	Abnormality of body weight	10594	PRPF8	ORPHA:791
HP:0004323	Abnormality of body weight	6295	SAG	ORPHA:791
HP:0004323	Abnormality of body weight	91147	TMEM67	OMIM:615991
HP:0004323	Abnormality of body weight	89891	DYNC2I2	OMIM:615633
HP:0004323	Abnormality of body weight	3290	HSD11B1	OMIM:614662
HP:0004323	Abnormality of body weight	9759	HDAC4	ORPHA:1001
HP:0004323	Abnormality of body weight	9759	HDAC4	OMIM:600430
HP:0004323	Abnormality of body weight	5575	PRKAR1B	OMIM:619680
HP:0004323	Abnormality of body weight	79048	SECISBP2	ORPHA:171706
HP:0004323	Abnormality of body weight	1363	CPE	OMIM:619326
HP:0004323	Abnormality of body weight	348	APOE	ORPHA:412
HP:0004323	Abnormality of body weight	8888	MCM3AP	OMIM:618124
HP:0004323	Abnormality of body weight	85358	SHANK3	ORPHA:48652
HP:0004323	Abnormality of body weight	26146	TRAF3IP1	OMIM:616629
HP:0004323	Abnormality of body weight	2261	FGFR3	ORPHA:15
HP:0004323	Abnormality of body weight	54681	P4HTM	OMIM:618493
HP:0004323	Abnormality of body weight	51715	RAB23	ORPHA:65759
HP:0004323	Abnormality of body weight	51715	RAB23	OMIM:201000
HP:0004323	Abnormality of body weight	9563	H6PD	OMIM:604931
HP:0004323	Abnormality of body weight	23040	MYT1L	OMIM:616521
HP:0004323	Abnormality of body weight	54361	WNT4	ORPHA:247768
HP:0004323	Abnormality of body weight	91461	PKDCC	OMIM:618821
HP:0004323	Abnormality of body weight	8087	FXR1	OMIM:618822
HP:0004323	Abnormality of body weight	26047	CNTNAP2	ORPHA:163681
HP:0004323	Abnormality of body weight	63932	STEEP1	OMIM:301013
HP:0004323	Abnormality of body weight	200894	ARL13B	OMIM:612291
HP:0004323	Abnormality of body weight	51124	IER3IP1	OMIM:614231
HP:0004323	Abnormality of body weight	5456	POU3F4	ORPHA:1435
HP:0004323	Abnormality of body weight	627	BDNF	ORPHA:893
HP:0004323	Abnormality of body weight	1512	CTSH	ORPHA:2073
HP:0004323	Abnormality of body weight	5032	P2RY11	ORPHA:2073
HP:0004323	Abnormality of body weight	4340	MOG	ORPHA:2073
HP:0004323	Abnormality of body weight	4340	MOG	OMIM:614250
HP:0004323	Abnormality of body weight	3060	HCRT	ORPHA:2073
HP:0004323	Abnormality of body weight	22891	ZNF365	ORPHA:2073
HP:0004323	Abnormality of body weight	7292	TNFSF4	ORPHA:2073
HP:0004323	Abnormality of body weight	9320	TRIP12	OMIM:617752
HP:0004323	Abnormality of body weight	1315	COPB1	OMIM:619255
HP:0004323	Abnormality of body weight	51099	ABHD5	ORPHA:98907
HP:0004323	Abnormality of body weight	51317	PHF21A	OMIM:618725
HP:0004323	Abnormality of body weight	57104	PNPLA2	ORPHA:98908
HP:0004323	Abnormality of body weight	23102	TBC1D2B	ORPHA:397973
HP:0004323	Abnormality of body weight	375056	MIA3	OMIM:619269
HP:0004323	Abnormality of body weight	109	ADCY3	OMIM:617885
HP:0004323	Abnormality of body weight	6736	SRY	ORPHA:1772
HP:0004323	Abnormality of body weight	57194	ATP10A	ORPHA:411515
HP:0004323	Abnormality of body weight	6657	SOX2	ORPHA:3157
HP:0004323	Abnormality of body weight	6658	SOX3	ORPHA:3157
HP:0004323	Abnormality of body weight	5015	OTX2	ORPHA:3157
HP:0004323	Abnormality of body weight	81555	YIPF5	OMIM:619278
HP:0004323	Abnormality of body weight	84942	WDR73	OMIM:251300
HP:0004323	Abnormality of body weight	57176	VARS2	OMIM:615917
HP:0004323	Abnormality of body weight	4487	MSX1	ORPHA:199302
HP:0004323	Abnormality of body weight	5818	NECTIN1	ORPHA:199302
HP:0004323	Abnormality of body weight	8626	TP63	ORPHA:199302
HP:0004323	Abnormality of body weight	3664	IRF6	ORPHA:199302
HP:0004323	Abnormality of body weight	5932	RBBP8	OMIM:606744
HP:0004323	Abnormality of body weight	1841	DTYMK	OMIM:619847
HP:0004323	Abnormality of body weight	318	NUDT2	OMIM:619844
HP:0004323	Abnormality of body weight	10847	SRCAP	ORPHA:2044
HP:0004323	Abnormality of body weight	10908	PNPLA6	OMIM:275400
HP:0004323	Abnormality of body weight	4868	NPHS1	OMIM:256300
HP:0004323	Abnormality of body weight	55870	ASH1L	OMIM:617796
HP:0004323	Abnormality of body weight	116228	COX20	OMIM:619054
HP:0004323	Abnormality of body weight	6884	TAF13	OMIM:617432
HP:0004323	Abnormality of body weight	55037	PTCD3	OMIM:619057
HP:0004323	Abnormality of body weight	1272	CNTN1	OMIM:612540
HP:0004323	Abnormality of body weight	816	CAMK2B	OMIM:617799
HP:0004323	Abnormality of body weight	90993	CREB3L1	OMIM:616229
HP:0004323	Abnormality of body weight	54675	CRLS1	OMIM:620167
HP:0004323	Abnormality of body weight	26053	AUTS2	ORPHA:352490
HP:0004323	Abnormality of body weight	26053	AUTS2	OMIM:615834
HP:0004323	Abnormality of body weight	7386	UQCRFS1	OMIM:618775
HP:0004323	Abnormality of body weight	2903	GRIN2A	ORPHA:289266
HP:0004323	Abnormality of body weight	2903	GRIN2A	OMIM:245570
HP:0004323	Abnormality of body weight	55012	PPP2R3C	OMIM:618419
HP:0004323	Abnormality of body weight	51021	MRPS16	OMIM:610498
HP:0004323	Abnormality of body weight	5447	POR	OMIM:201750
HP:0004323	Abnormality of body weight	55621	TRMT1	OMIM:618302
HP:0004323	Abnormality of body weight	4593	MUSK	OMIM:208150
HP:0004323	Abnormality of body weight	79753	SNIP1	OMIM:614501
HP:0004323	Abnormality of body weight	23345	SYNE1	ORPHA:319332
HP:0004323	Abnormality of body weight	23345	SYNE1	OMIM:618484
HP:0004323	Abnormality of body weight	7385	UQCRC2	OMIM:615160
HP:0004323	Abnormality of body weight	5244	ABCB4	ORPHA:69665
HP:0004323	Abnormality of body weight	1028	CDKN1C	ORPHA:397590
HP:0004323	Abnormality of body weight	2683	B4GALT1	ORPHA:79332
HP:0004323	Abnormality of body weight	5286	PIK3C2A	OMIM:618440
HP:0004323	Abnormality of body weight	8218	CLTCL1	ORPHA:453510
HP:0004323	Abnormality of body weight	2961	GTF2E2	OMIM:616943
HP:0004323	Abnormality of body weight	701	BUB1B	OMIM:257300
HP:0004323	Abnormality of body weight	6135	RPL11	ORPHA:124
HP:0004323	Abnormality of body weight	6138	RPL15	ORPHA:124
HP:0004323	Abnormality of body weight	6229	RPS24	ORPHA:124
HP:0004323	Abnormality of body weight	6204	RPS10	ORPHA:124
HP:0004323	Abnormality of body weight	6165	RPL35A	ORPHA:124
HP:0004323	Abnormality of body weight	2623	GATA1	ORPHA:124
HP:0004323	Abnormality of body weight	6232	RPS27	ORPHA:124
HP:0004323	Abnormality of body weight	6231	RPS26	ORPHA:124
HP:0004323	Abnormality of body weight	11224	RPL35	ORPHA:124
HP:0004323	Abnormality of body weight	6160	RPL31	ORPHA:124
HP:0004323	Abnormality of body weight	6218	RPS17	ORPHA:124
HP:0004323	Abnormality of body weight	6201	RPS7	ORPHA:124
HP:0004323	Abnormality of body weight	6155	RPL27	ORPHA:124
HP:0004323	Abnormality of body weight	6154	RPL26	ORPHA:124
HP:0004323	Abnormality of body weight	6210	RPS15A	ORPHA:124
HP:0004323	Abnormality of body weight	90121	TSR2	ORPHA:124
HP:0004323	Abnormality of body weight	6141	RPL18	ORPHA:124
HP:0004323	Abnormality of body weight	6235	RPS29	ORPHA:124
HP:0004323	Abnormality of body weight	6234	RPS28	ORPHA:124
HP:0004323	Abnormality of body weight	51816	ADA2	ORPHA:124
HP:0004323	Abnormality of body weight	51025	PAM16	OMIM:613320
HP:0004323	Abnormality of body weight	10075	HUWE1	OMIM:309590
HP:0004323	Abnormality of body weight	4041	LRP5	ORPHA:90050
HP:0004323	Abnormality of body weight	8322	FZD4	ORPHA:90050
HP:0004323	Abnormality of body weight	579	NKX3-2	OMIM:613330
HP:0004323	Abnormality of body weight	23363	OBSL1	OMIM:612921
HP:0004323	Abnormality of body weight	55593	OTUD5	OMIM:301056
HP:0004323	Abnormality of body weight	23395	LARS2	OMIM:617021
HP:0004323	Abnormality of body weight	1062	CENPE	OMIM:616051
HP:0004323	Abnormality of body weight	10229	COQ7	OMIM:616733
HP:0004323	Abnormality of body weight	2710	GK	OMIM:307030
HP:0004323	Abnormality of body weight	63925	ZNF335	OMIM:615095
HP:0004323	Abnormality of body weight	50619	DEF6	OMIM:619573
HP:0004323	Abnormality of body weight	23511	NUP188	OMIM:618804
HP:0004323	Abnormality of body weight	1277	COL1A1	OMIM:166210
HP:0004323	Abnormality of body weight	1278	COL1A2	OMIM:166210
HP:0004323	Abnormality of body weight	9820	CUL7	OMIM:273750
HP:0004323	Abnormality of body weight	9361	LONP1	ORPHA:79243
HP:0004323	Abnormality of body weight	22827	PUF60	ORPHA:508488
HP:0004323	Abnormality of body weight	22827	PUF60	OMIM:615583
HP:0004323	Abnormality of body weight	4905	NSF	OMIM:619340
HP:0004323	Abnormality of body weight	10046	MAMLD1	ORPHA:95706
HP:0004323	Abnormality of body weight	367	AR	ORPHA:95706
HP:0004323	Abnormality of body weight	3835	KIF22	ORPHA:93360
HP:0004323	Abnormality of body weight	92002	CCNQ	OMIM:300707
HP:0004323	Abnormality of body weight	4796	TONSL	ORPHA:93357
HP:0004323	Abnormality of body weight	1727	CYB5R3	ORPHA:621
HP:0004323	Abnormality of body weight	6697	SPR	ORPHA:70594
HP:0004323	Abnormality of body weight	213	ALB	ORPHA:86816
HP:0004323	Abnormality of body weight	1836	SLC26A2	OMIM:222600
HP:0004323	Abnormality of body weight	60558	GUF1	OMIM:617065
HP:0004323	Abnormality of body weight	9918	NCAPD2	OMIM:617983
HP:0004323	Abnormality of body weight	57477	SHROOM4	ORPHA:85288
HP:0004323	Abnormality of body weight	10293	TRAIP	OMIM:616777
HP:0004323	Abnormality of body weight	9702	CEP57	OMIM:614114
HP:0004323	Abnormality of body weight	202018	TAPT1	OMIM:616897
HP:0004323	Abnormality of body weight	23397	NCAPH	OMIM:617985
HP:0004323	Abnormality of body weight	23310	NCAPD3	OMIM:617984
HP:0004323	Abnormality of body weight	10436	EMG1	OMIM:211180
HP:0004323	Abnormality of body weight	5805	PTS	OMIM:261640
HP:0004323	Abnormality of body weight	54888	NSUN2	OMIM:611091
HP:0004323	Abnormality of body weight	37	ACADVL	ORPHA:26793
HP:0004323	Abnormality of body weight	29928	TIMM22	OMIM:618851
HP:0004323	Abnormality of body weight	1968	EIF2S3	OMIM:300148
HP:0004323	Abnormality of body weight	146059	CDAN1	OMIM:224120
HP:0004323	Abnormality of body weight	10736	SIX2	ORPHA:488437
HP:0004323	Abnormality of body weight	4713	NDUFB7	OMIM:620135
HP:0004323	Abnormality of body weight	64682	ANAPC1	ORPHA:221008
HP:0004323	Abnormality of body weight	8462	KLF11	ORPHA:552
HP:0004323	Abnormality of body weight	26060	APPL1	ORPHA:552
HP:0004323	Abnormality of body weight	640	BLK	ORPHA:552
HP:0004323	Abnormality of body weight	1056	CEL	ORPHA:552
HP:0004323	Abnormality of body weight	4760	NEUROD1	ORPHA:552
HP:0004323	Abnormality of body weight	5078	PAX4	ORPHA:552
HP:0004323	Abnormality of body weight	6927	HNF1A	ORPHA:552
HP:0004323	Abnormality of body weight	6927	HNF1A	ORPHA:324575
HP:0004323	Abnormality of body weight	2737	GLI3	ORPHA:672
HP:0004323	Abnormality of body weight	4953	ODC1	OMIM:619075
HP:0004323	Abnormality of body weight	4953	ODC1	ORPHA:544488
HP:0004323	Abnormality of body weight	8925	HERC1	OMIM:617011
HP:0004323	Abnormality of body weight	8925	HERC1	ORPHA:457359
HP:0004323	Abnormality of body weight	388015	RTL1	ORPHA:254534
HP:0004323	Abnormality of body weight	388015	RTL1	ORPHA:96334
HP:0004323	Abnormality of body weight	8788	DLK1	ORPHA:254534
HP:0004323	Abnormality of body weight	8788	DLK1	ORPHA:96334
HP:0004323	Abnormality of body weight	55384	MEG3	ORPHA:254534
HP:0004323	Abnormality of body weight	55384	MEG3	ORPHA:96334
HP:0004323	Abnormality of body weight	51604	PIGT	OMIM:615398
HP:0004323	Abnormality of body weight	9158	FIBP	ORPHA:500095
HP:0004323	Abnormality of body weight	9158	FIBP	OMIM:617107
HP:0004323	Abnormality of body weight	84282	RNF135	ORPHA:137634
HP:0004323	Abnormality of body weight	5894	RAF1	OMIM:611553
HP:0004323	Abnormality of body weight	54499	TMCO1	OMIM:213980
HP:0004323	Abnormality of body weight	274	BIN1	ORPHA:169189
HP:0004323	Abnormality of body weight	64419	MTMR14	ORPHA:169189
HP:0004323	Abnormality of body weight	4618	MYF6	ORPHA:169189
HP:0004323	Abnormality of body weight	1785	DNM2	ORPHA:169189
HP:0004323	Abnormality of body weight	10060	ABCC9	OMIM:239850
HP:0004323	Abnormality of body weight	23405	DICER1	OMIM:618272
HP:0004323	Abnormality of body weight	288	ANK3	ORPHA:356996
HP:0004323	Abnormality of body weight	23556	PIGN	OMIM:614080
HP:0004323	Abnormality of body weight	9487	PIGL	OMIM:280000
HP:0004323	Abnormality of body weight	51684	SUFU	OMIM:617757
HP:0004323	Abnormality of body weight	208	AKT2	ORPHA:293964
HP:0004323	Abnormality of body weight	208	AKT2	OMIM:240900
HP:0004323	Abnormality of body weight	80173	IFT74	OMIM:617119
HP:0004323	Abnormality of body weight	5277	PIGA	OMIM:300868
HP:0004323	Abnormality of body weight	3340	NDST1	OMIM:616116
HP:0004323	Abnormality of body weight	2475	MTOR	ORPHA:457485
HP:0004323	Abnormality of body weight	2475	MTOR	OMIM:616638
HP:0004323	Abnormality of body weight	7351	UCP2	ORPHA:276556
HP:0004323	Abnormality of body weight	6654	SOS1	OMIM:610733
HP:0004323	Abnormality of body weight	10269	ZMPSTE24	ORPHA:740
HP:0004323	Abnormality of body weight	5631	PRPS1	ORPHA:423479
HP:0004323	Abnormality of body weight	55697	VAC14	ORPHA:3472
HP:0004323	Abnormality of body weight	5191	PEX7	OMIM:215100
HP:0004323	Abnormality of body weight	5979	RET	OMIM:162300
HP:0004323	Abnormality of body weight	5979	RET	ORPHA:388
HP:0004323	Abnormality of body weight	1497	CTNS	OMIM:219800
HP:0004323	Abnormality of body weight	90268	OTULIN	OMIM:617099
HP:0004323	Abnormality of body weight	10043	TOM1	OMIM:619510
HP:0004323	Abnormality of body weight	157680	VPS13B	ORPHA:193
HP:0004323	Abnormality of body weight	3043	HBB	ORPHA:231214
HP:0004323	Abnormality of body weight	3043	HBB	ORPHA:231226
HP:0004323	Abnormality of body weight	5167	ENPP1	ORPHA:51608
HP:0004323	Abnormality of body weight	368	ABCC6	ORPHA:51608
HP:0004323	Abnormality of body weight	1859	DYRK1A	ORPHA:268261
HP:0004323	Abnormality of body weight	1859	DYRK1A	OMIM:614104
HP:0004323	Abnormality of body weight	7355	SLC35A2	ORPHA:356961
HP:0004323	Abnormality of body weight	6804	STX1A	ORPHA:904
HP:0004323	Abnormality of body weight	7461	CLIP2	ORPHA:904
HP:0004323	Abnormality of body weight	84277	DNAJC30	ORPHA:904
HP:0004323	Abnormality of body weight	8468	FKBP6	ORPHA:904
HP:0004323	Abnormality of body weight	5982	RFC2	ORPHA:904
HP:0004323	Abnormality of body weight	2969	GTF2I	ORPHA:904
HP:0004323	Abnormality of body weight	3984	LIMK1	ORPHA:904
HP:0004323	Abnormality of body weight	9569	GTF2IRD1	ORPHA:904
HP:0004323	Abnormality of body weight	155382	VPS37D	ORPHA:904
HP:0004323	Abnormality of body weight	155368	METTL27	ORPHA:904
HP:0004323	Abnormality of body weight	114049	BUD23	ORPHA:904
HP:0004323	Abnormality of body weight	7458	EIF4H	ORPHA:904
HP:0004323	Abnormality of body weight	84163	GTF2IRD2	ORPHA:904
HP:0004323	Abnormality of body weight	9275	BCL7B	ORPHA:904
HP:0004323	Abnormality of body weight	26608	TBL2	ORPHA:904
HP:0004323	Abnormality of body weight	653361	NCF1	ORPHA:904
HP:0004323	Abnormality of body weight	135886	TMEM270	ORPHA:904
HP:0004323	Abnormality of body weight	51085	MLXIPL	ORPHA:904
HP:0004323	Abnormality of body weight	51085	MLXIPL	OMIM:194050
HP:0004323	Abnormality of body weight	9031	BAZ1B	ORPHA:904
HP:0004323	Abnormality of body weight	2006	ELN	ORPHA:904
HP:0004323	Abnormality of body weight	2006	ELN	OMIM:194050
HP:0004323	Abnormality of body weight	5880	RAC2	OMIM:618987
HP:0004323	Abnormality of body weight	285175	UNC80	OMIM:616801
HP:0004323	Abnormality of body weight	5836	PYGL	OMIM:232700
HP:0004323	Abnormality of body weight	3032	HADHB	ORPHA:746
HP:0004323	Abnormality of body weight	3030	HADHA	ORPHA:746
HP:0004323	Abnormality of body weight	8405	SPOP	OMIM:618829
HP:0004323	Abnormality of body weight	7681	MKRN3	OMIM:176270
HP:0004323	Abnormality of body weight	3653	IPW	OMIM:176270
HP:0004323	Abnormality of body weight	791114	PWRN1	OMIM:176270
HP:0004323	Abnormality of body weight	100033413	SNORD116-1	OMIM:176270
HP:0004323	Abnormality of body weight	8924	HERC2	OMIM:176270
HP:0004323	Abnormality of body weight	145624	PWAR1	OMIM:176270
HP:0004323	Abnormality of body weight	23742	NPAP1	OMIM:176270
HP:0004323	Abnormality of body weight	338433	SNORD115-1	OMIM:176270
HP:0004323	Abnormality of body weight	215	ABCD1	ORPHA:388
HP:0004323	Abnormality of body weight	2668	GDNF	ORPHA:388
HP:0004323	Abnormality of body weight	6608	SMO	ORPHA:388
HP:0004323	Abnormality of body weight	1889	ECE1	ORPHA:388
HP:0004323	Abnormality of body weight	6720	SREBF1	ORPHA:388
HP:0004323	Abnormality of body weight	1908	EDN3	ORPHA:388
HP:0004323	Abnormality of body weight	223117	SEMA3D	ORPHA:388
HP:0004323	Abnormality of body weight	538	ATP7A	ORPHA:388
HP:0004323	Abnormality of body weight	1910	EDNRB	ORPHA:388
HP:0004323	Abnormality of body weight	10512	SEMA3C	ORPHA:388
HP:0004323	Abnormality of body weight	2064	ERBB2	ORPHA:388
HP:0004323	Abnormality of body weight	2065	ERBB3	ORPHA:388
HP:0004323	Abnormality of body weight	4902	NRTN	ORPHA:388
HP:0004323	Abnormality of body weight	6340	SCNN1G	ORPHA:171876
HP:0004323	Abnormality of body weight	6337	SCNN1A	ORPHA:171876
HP:0004323	Abnormality of body weight	6338	SCNN1B	ORPHA:171876
HP:0004323	Abnormality of body weight	2222	FDFT1	OMIM:618156
HP:0004323	Abnormality of body weight	83737	ITCH	OMIM:613385
HP:0004323	Abnormality of body weight	83737	ITCH	ORPHA:228426
HP:0004323	Abnormality of body weight	4056	LTC4S	OMIM:614037
HP:0004323	Abnormality of body weight	2260	FGFR1	ORPHA:2645
HP:0004323	Abnormality of body weight	3557	IL1RN	OMIM:612852
HP:0004323	Abnormality of body weight	2314	FLII	ORPHA:819
HP:0004323	Abnormality of body weight	23096	IQSEC2	ORPHA:819
HP:0004323	Abnormality of body weight	10522	DEAF1	ORPHA:819
HP:0004323	Abnormality of body weight	10165	SLC25A13	ORPHA:247598
HP:0004323	Abnormality of body weight	29072	SETD2	OMIM:620155
HP:0004323	Abnormality of body weight	9382	COG1	OMIM:611209
HP:0004323	Abnormality of body weight	3718	JAK3	ORPHA:35078
HP:0004323	Abnormality of body weight	25839	COG4	ORPHA:263501
HP:0004323	Abnormality of body weight	5422	POLA1	OMIM:301220
HP:0004323	Abnormality of body weight	56992	KIF15	ORPHA:261323
HP:0004323	Abnormality of body weight	1439	CSF2RB	ORPHA:264675
HP:0004323	Abnormality of body weight	1438	CSF2RA	ORPHA:264675
HP:0004323	Abnormality of body weight	7084	TK2	ORPHA:254875
HP:0004323	Abnormality of body weight	5699	PSMB10	OMIM:619175
HP:0004323	Abnormality of body weight	6651	SON	ORPHA:500150
HP:0004323	Abnormality of body weight	10463	SLC30A9	OMIM:617595
HP:0004323	Abnormality of body weight	27086	FOXP1	OMIM:613670
HP:0004323	Abnormality of body weight	9401	RECQL4	ORPHA:1225
HP:0004323	Abnormality of body weight	8565	YARS1	OMIM:619418
HP:0004323	Abnormality of body weight	50943	FOXP3	ORPHA:37042
HP:0004323	Abnormality of body weight	26007	TKFC	OMIM:618805
HP:0004323	Abnormality of body weight	5604	MAP2K1	ORPHA:1340
HP:0004323	Abnormality of body weight	5604	MAP2K1	OMIM:163950
HP:0004323	Abnormality of body weight	5605	MAP2K2	ORPHA:1340
HP:0004323	Abnormality of body weight	3845	KRAS	ORPHA:1340
HP:0004323	Abnormality of body weight	64116	SLC39A8	ORPHA:468699
HP:0004323	Abnormality of body weight	10225	CD96	ORPHA:1308
HP:0004323	Abnormality of body weight	3431	SP110	ORPHA:79124
HP:0004323	Abnormality of body weight	83480	PUS3	ORPHA:488627
HP:0004323	Abnormality of body weight	9896	FIG4	OMIM:216340
HP:0004323	Abnormality of body weight	3265	HRAS	ORPHA:3071
HP:0004323	Abnormality of body weight	6567	SLC16A2	ORPHA:59
HP:0004323	Abnormality of body weight	9377	COX5A	OMIM:619064
HP:0004323	Abnormality of body weight	56922	MCCC1	ORPHA:6
HP:0004323	Abnormality of body weight	64087	MCCC2	ORPHA:6
HP:0004323	Abnormality of body weight	29968	PSAT1	ORPHA:284417
HP:0004323	Abnormality of body weight	84842	HPDL	OMIM:619026
HP:0004323	Abnormality of body weight	56160	NSMCE3	OMIM:617241
HP:0004323	Abnormality of body weight	5718	PSMD12	ORPHA:529962
HP:0004323	Abnormality of body weight	2186	BPTF	ORPHA:529962
HP:0004323	Abnormality of body weight	84342	COG8	OMIM:611182
HP:0004323	Abnormality of body weight	4697	NDUFA4	OMIM:619065
HP:0004323	Abnormality of body weight	833	CARS1	OMIM:618891
HP:0004323	Abnormality of body weight	7043	TGFB3	OMIM:615582
HP:0004323	Abnormality of body weight	4654	MYOD1	OMIM:618975
HP:0004323	Abnormality of body weight	23495	TNFRSF13B	ORPHA:1572
HP:0004323	Abnormality of body weight	4790	NFKB1	ORPHA:1572
HP:0004323	Abnormality of body weight	4791	NFKB2	ORPHA:1572
HP:0004323	Abnormality of body weight	115650	TNFRSF13C	ORPHA:1572
HP:0004323	Abnormality of body weight	1380	CR2	ORPHA:1572
HP:0004323	Abnormality of body weight	8742	TNFSF12	ORPHA:1572
HP:0004323	Abnormality of body weight	5580	PRKCD	ORPHA:1572
HP:0004323	Abnormality of body weight	930	CD19	ORPHA:1572
HP:0004323	Abnormality of body weight	29851	ICOS	ORPHA:1572
HP:0004323	Abnormality of body weight	931	MS4A1	ORPHA:1572
HP:0004323	Abnormality of body weight	975	CD81	ORPHA:1572
HP:0004323	Abnormality of body weight	359948	IRF2BP2	ORPHA:1572
HP:0004323	Abnormality of body weight	4598	MVK	OMIM:610377
HP:0004323	Abnormality of body weight	3559	IL2RA	OMIM:606367
HP:0004323	Abnormality of body weight	26040	SETBP1	ORPHA:798
HP:0004323	Abnormality of body weight	5781	PTPN11	OMIM:163950
HP:0004323	Abnormality of body weight	50814	NSDHL	OMIM:300831
HP:0004323	Abnormality of body weight	50814	NSDHL	ORPHA:251383
HP:0004323	Abnormality of body weight	2892	GRIA3	OMIM:300699
HP:0004323	Abnormality of body weight	2892	GRIA3	ORPHA:364028
HP:0004323	Abnormality of body weight	65109	UPF3B	OMIM:300676
HP:0004323	Abnormality of body weight	1763	DNA2	OMIM:615156
HP:0004323	Abnormality of body weight	1763	DNA2	ORPHA:352470
HP:0004323	Abnormality of body weight	84665	MYPN	ORPHA:171439
HP:0004323	Abnormality of body weight	390594	KBTBD13	ORPHA:171439
HP:0004323	Abnormality of body weight	4703	NEB	ORPHA:171439
HP:0004323	Abnormality of body weight	4703	NEB	OMIM:256030
HP:0004323	Abnormality of body weight	4703	NEB	ORPHA:399103
HP:0004323	Abnormality of body weight	10324	KLHL41	ORPHA:171439
HP:0004323	Abnormality of body weight	7486	WRN	ORPHA:902
HP:0004323	Abnormality of body weight	23152	CIC	OMIM:617600
HP:0004323	Abnormality of body weight	6301	SARS1	OMIM:617709
HP:0004323	Abnormality of body weight	2201	FBN2	ORPHA:115
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:397
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:117
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:29207
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:36426
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:3287
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:397
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:703
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:545
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:797
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:747
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	OMIM:181000
HP:0004323	Abnormality of body weight	8974	P4HA2	ORPHA:397
HP:0004323	Abnormality of body weight	3064	HTT	ORPHA:399
HP:0004323	Abnormality of body weight	3064	HTT	ORPHA:248111
HP:0004323	Abnormality of body weight	6515	SLC2A3	ORPHA:399
HP:0004323	Abnormality of body weight	54790	TET2	ORPHA:98850
HP:0004323	Abnormality of body weight	54790	TET2	ORPHA:98849
HP:0004323	Abnormality of body weight	54790	TET2	ORPHA:729
HP:0004323	Abnormality of body weight	861	RUNX1	ORPHA:98850
HP:0004323	Abnormality of body weight	6427	SRSF2	ORPHA:98850
HP:0004323	Abnormality of body weight	6427	SRSF2	ORPHA:98849
HP:0004323	Abnormality of body weight	4352	MPL	ORPHA:71493
HP:0004323	Abnormality of body weight	4352	MPL	ORPHA:729
HP:0004323	Abnormality of body weight	7066	THPO	ORPHA:71493
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:71493
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:729
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:131
HP:0004323	Abnormality of body weight	6622	SNCA	OMIM:605543
HP:0004323	Abnormality of body weight	6622	SNCA	ORPHA:411602
HP:0004323	Abnormality of body weight	3815	KIT	ORPHA:98849
HP:0004323	Abnormality of body weight	7253	TSHR	ORPHA:99819
HP:0004323	Abnormality of body weight	7253	TSHR	ORPHA:424
HP:0004323	Abnormality of body weight	5314	PKHD1	ORPHA:53035
HP:0004323	Abnormality of body weight	4292	MLH1	ORPHA:144
HP:0004323	Abnormality of body weight	5395	PMS2	ORPHA:144
HP:0004323	Abnormality of body weight	27030	MLH3	ORPHA:144
HP:0004323	Abnormality of body weight	22909	FAN1	ORPHA:144
HP:0004323	Abnormality of body weight	7048	TGFBR2	ORPHA:144
HP:0004323	Abnormality of body weight	2956	MSH6	ORPHA:144
HP:0004323	Abnormality of body weight	5378	PMS1	ORPHA:144
HP:0004323	Abnormality of body weight	4436	MSH2	ORPHA:144
HP:0004323	Abnormality of body weight	1639	DCTN1	ORPHA:178509
HP:0004323	Abnormality of body weight	1639	DCTN1	OMIM:168605
HP:0004323	Abnormality of body weight	79577	CDC73	ORPHA:143
HP:0004323	Abnormality of body weight	2130	EWSR1	ORPHA:83469
HP:0004323	Abnormality of body weight	7490	WT1	ORPHA:83469
HP:0004323	Abnormality of body weight	7490	WT1	ORPHA:654
HP:0004323	Abnormality of body weight	64218	SEMA4A	ORPHA:440437
HP:0004323	Abnormality of body weight	6224	RPS20	ORPHA:440437
HP:0004323	Abnormality of body weight	9244	CRLF1	ORPHA:930
HP:0004323	Abnormality of body weight	4842	NOS1	ORPHA:930
HP:0004323	Abnormality of body weight	1890	TYMP	ORPHA:298
HP:0004323	Abnormality of body weight	1890	TYMP	OMIM:603041
HP:0004323	Abnormality of body weight	3980	LIG3	ORPHA:298
HP:0004323	Abnormality of body weight	6772	STAT1	OMIM:614162
HP:0004323	Abnormality of body weight	2859	GPR35	ORPHA:171
HP:0004323	Abnormality of body weight	10507	SEMA4D	ORPHA:171
HP:0004323	Abnormality of body weight	4485	MST1	ORPHA:171
HP:0004323	Abnormality of body weight	2034	EPAS1	ORPHA:276621
HP:0004323	Abnormality of body weight	29967	LRP12	OMIM:164310
HP:0004323	Abnormality of body weight	10459	MAD2L2	ORPHA:84
HP:0004323	Abnormality of body weight	7516	XRCC2	ORPHA:84
HP:0004323	Abnormality of body weight	29089	UBE2T	ORPHA:84
HP:0004323	Abnormality of body weight	55120	FANCL	ORPHA:84
HP:0004323	Abnormality of body weight	2177	FANCD2	ORPHA:84
HP:0004323	Abnormality of body weight	2175	FANCA	ORPHA:84
HP:0004323	Abnormality of body weight	2187	FANCB	ORPHA:84
HP:0004323	Abnormality of body weight	2176	FANCC	ORPHA:84
HP:0004323	Abnormality of body weight	2178	FANCE	ORPHA:84
HP:0004323	Abnormality of body weight	2189	FANCG	ORPHA:84
HP:0004323	Abnormality of body weight	5888	RAD51	ORPHA:84
HP:0004323	Abnormality of body weight	5889	RAD51C	ORPHA:84
HP:0004323	Abnormality of body weight	55159	RFWD3	ORPHA:84
HP:0004323	Abnormality of body weight	83990	BRIP1	ORPHA:84
HP:0004323	Abnormality of body weight	57697	FANCM	ORPHA:84
HP:0004323	Abnormality of body weight	79728	PALB2	ORPHA:84
HP:0004323	Abnormality of body weight	79728	PALB2	ORPHA:1333
HP:0004323	Abnormality of body weight	84464	SLX4	ORPHA:84
HP:0004323	Abnormality of body weight	5621	PRNP	OMIM:600072
HP:0004323	Abnormality of body weight	5621	PRNP	ORPHA:157941
HP:0004323	Abnormality of body weight	5621	PRNP	OMIM:137440
HP:0004323	Abnormality of body weight	2626	GATA4	ORPHA:251071
HP:0004323	Abnormality of body weight	64127	NOD2	OMIM:617321
HP:0004323	Abnormality of body weight	64127	NOD2	OMIM:266600
HP:0004323	Abnormality of body weight	23230	VPS13A	ORPHA:2388
HP:0004323	Abnormality of body weight	57338	JPH3	ORPHA:98934
HP:0004323	Abnormality of body weight	57338	JPH3	OMIM:606438
HP:0004323	Abnormality of body weight	2313	FLI1	ORPHA:370348
HP:0004323	Abnormality of body weight	595	CCND1	ORPHA:52416
HP:0004323	Abnormality of body weight	595	CCND1	ORPHA:29073
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:52416
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:52417
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:545
HP:0004323	Abnormality of body weight	330	BIRC3	ORPHA:52417
HP:0004323	Abnormality of body weight	8915	BCL10	ORPHA:52417
HP:0004323	Abnormality of body weight	1743	DLST	ORPHA:29072
HP:0004323	Abnormality of body weight	8402	SLC25A11	ORPHA:29072
HP:0004323	Abnormality of body weight	54949	SDHAF2	ORPHA:29072
HP:0004323	Abnormality of body weight	55654	TMEM127	ORPHA:29072
HP:0004323	Abnormality of body weight	4763	NF1	ORPHA:29072
HP:0004323	Abnormality of body weight	4149	MAX	ORPHA:29072
HP:0004323	Abnormality of body weight	1493	CTLA4	ORPHA:900
HP:0004323	Abnormality of body weight	3115	HLA-DPB1	ORPHA:900
HP:0004323	Abnormality of body weight	3115	HLA-DPB1	ORPHA:133
HP:0004323	Abnormality of body weight	5657	PRTN3	ORPHA:900
HP:0004323	Abnormality of body weight	3113	HLA-DPA1	ORPHA:900
HP:0004323	Abnormality of body weight	100134444	KCNJ18	ORPHA:79102
HP:0004323	Abnormality of body weight	100134444	KCNJ18	OMIM:613239
HP:0004323	Abnormality of body weight	2556	GABRA3	ORPHA:79102
HP:0004323	Abnormality of body weight	779	CACNA1S	ORPHA:79102
HP:0004323	Abnormality of body weight	779	CACNA1S	OMIM:188580
HP:0004323	Abnormality of body weight	2624	GATA2	ORPHA:3226
HP:0004323	Abnormality of body weight	7276	TTR	ORPHA:85447
HP:0004323	Abnormality of body weight	4665	NAB2	ORPHA:2126
HP:0004323	Abnormality of body weight	6778	STAT6	ORPHA:2126
HP:0004323	Abnormality of body weight	8314	BAP1	ORPHA:50251
HP:0004323	Abnormality of body weight	1962	EHHADH	ORPHA:3337
HP:0004323	Abnormality of body weight	38	ACAT1	ORPHA:134
HP:0004323	Abnormality of body weight	811	CALR	ORPHA:131
HP:0004323	Abnormality of body weight	2153	F5	ORPHA:131
HP:0004323	Abnormality of body weight	11330	CTRC	ORPHA:103918
HP:0004323	Abnormality of body weight	6690	SPINK1	ORPHA:103918
HP:0004323	Abnormality of body weight	84868	HAVCR2	ORPHA:86884
HP:0004323	Abnormality of body weight	10661	KLF1	OMIM:613673
HP:0004323	Abnormality of body weight	644096	SDHAF1	ORPHA:3208
HP:0004323	Abnormality of body weight	654	BMP6	ORPHA:465508
HP:0004323	Abnormality of body weight	6583	SLC22A4	OMIM:180300
HP:0004323	Abnormality of body weight	51744	CD244	OMIM:180300
HP:0004323	Abnormality of body weight	4795	NFKBIL1	OMIM:180300
HP:0004323	Abnormality of body weight	3586	IL10	OMIM:180300
HP:0004323	Abnormality of body weight	3586	IL10	ORPHA:117
HP:0004323	Abnormality of body weight	2000	ELF4	OMIM:301074
HP:0004323	Abnormality of body weight	1616	DAXX	ORPHA:100075
HP:0004323	Abnormality of body weight	10568	SLC34A2	ORPHA:60025
HP:0004323	Abnormality of body weight	80025	PANK2	ORPHA:216866
HP:0004323	Abnormality of body weight	165918	RNF168	ORPHA:420741
HP:0004323	Abnormality of body weight	149233	IL23R	ORPHA:117
HP:0004323	Abnormality of body weight	4210	MEFV	ORPHA:117
HP:0004323	Abnormality of body weight	1230	CCR1	ORPHA:117
HP:0004323	Abnormality of body weight	355	FAS	ORPHA:117
HP:0004323	Abnormality of body weight	3592	IL12A	ORPHA:117
HP:0004323	Abnormality of body weight	101928376	IL12A-AS1	ORPHA:117
HP:0004323	Abnormality of body weight	7099	TLR4	ORPHA:117
HP:0004323	Abnormality of body weight	3459	IFNGR1	ORPHA:117
HP:0004323	Abnormality of body weight	3459	IFNGR1	OMIM:209950
HP:0004323	Abnormality of body weight	720	C4A	ORPHA:117
HP:0004323	Abnormality of body weight	337867	UBAC2	ORPHA:117
HP:0004323	Abnormality of body weight	51752	ERAP1	ORPHA:117
HP:0004323	Abnormality of body weight	8302	KLRC4	ORPHA:117
HP:0004323	Abnormality of body weight	3848	KRT1	ORPHA:312
HP:0004323	Abnormality of body weight	3155	HMGCL	ORPHA:20
HP:0004323	Abnormality of body weight	596	BCL2	ORPHA:545
HP:0004323	Abnormality of body weight	604	BCL6	ORPHA:545
HP:0004323	Abnormality of body weight	5925	RB1	ORPHA:668
HP:0004323	Abnormality of body weight	11200	CHEK2	ORPHA:668
HP:0004323	Abnormality of body weight	5978	REST	ORPHA:654
HP:0004323	Abnormality of body weight	129563	DIS3L2	ORPHA:654
HP:0004323	Abnormality of body weight	9319	TRIP13	ORPHA:654
HP:0004323	Abnormality of body weight	10155	TRIM28	ORPHA:654
HP:0004323	Abnormality of body weight	11281	POU6F2	ORPHA:654
HP:0004323	Abnormality of body weight	2719	GPC3	ORPHA:654
HP:0004323	Abnormality of body weight	10320	IKZF1	ORPHA:36426
HP:0004323	Abnormality of body weight	23317	DNAJC13	ORPHA:411602
HP:0004323	Abnormality of body weight	1981	EIF4G1	ORPHA:411602
HP:0004323	Abnormality of body weight	55737	VPS35	ORPHA:411602
HP:0004323	Abnormality of body weight	120892	LRRK2	ORPHA:411602
HP:0004323	Abnormality of body weight	26058	GIGYF2	ORPHA:411602
HP:0004323	Abnormality of body weight	3141	HLCS	ORPHA:79242
HP:0004323	Abnormality of body weight	3569	IL6	OMIM:266600
HP:0004323	Abnormality of body weight	285282	RABL3	ORPHA:1333
HP:0004323	Abnormality of body weight	23022	PALLD	ORPHA:1333
HP:0004323	Abnormality of body weight	2707	GJB3	ORPHA:317
HP:0004323	Abnormality of body weight	2531	KDSR	ORPHA:317
HP:0004323	Abnormality of body weight	127534	GJB4	ORPHA:317
HP:0004323	Abnormality of body weight	56244	BTNL2	ORPHA:797
HP:0004323	Abnormality of body weight	10755	GIPC1	ORPHA:98897
HP:0004323	Abnormality of body weight	100996717	NOTCH2NLC	ORPHA:98897
HP:0004323	Abnormality of body weight	1027	CDKN1B	ORPHA:652
HP:0004323	Abnormality of body weight	1026	CDKN1A	ORPHA:652
HP:0004323	Abnormality of body weight	1030	CDKN2B	ORPHA:652
HP:0004323	Abnormality of body weight	1031	CDKN2C	ORPHA:652
HP:0004323	Abnormality of body weight	551	AVP	ORPHA:30925
HP:0004323	Abnormality of body weight	79651	RHBDF2	ORPHA:2198
HP:0004323	Abnormality of body weight	3593	IL12B	ORPHA:3287
HP:0004323	Abnormality of body weight	6945	MLX	ORPHA:3287
HP:0004323	Abnormality of body weight	6850	SYK	OMIM:619381
HP:0004323	Abnormality of body weight	5371	PML	ORPHA:520
HP:0004323	Abnormality of body weight	5914	RARA	ORPHA:520
HP:0004323	Abnormality of body weight	81608	FIP1L1	ORPHA:520
HP:0004323	Abnormality of body weight	4869	NPM1	ORPHA:520
HP:0004323	Abnormality of body weight	64859	NABP1	ORPHA:520
HP:0004323	Abnormality of body weight	4926	NUMA1	ORPHA:520
HP:0004323	Abnormality of body weight	7704	ZBTB16	ORPHA:520
HP:0004323	Abnormality of body weight	7840	ALMS1	ORPHA:64
HP:0004323	Abnormality of body weight	7840	ALMS1	OMIM:203800
HP:0004323	Abnormality of body weight	11253	MAN1B1	ORPHA:397941
HP:0004323	Abnormality of body weight	11253	MAN1B1	OMIM:614202
HP:0004323	Abnormality of body weight	26137	ZBTB20	OMIM:259050
HP:0004323	Abnormality of body weight	755	CFAP410	OMIM:617547
HP:0004323	Abnormality of body weight	81887	LAS1L	ORPHA:3459
HP:0004323	Abnormality of body weight	83696	TRAPPC9	OMIM:613192
HP:0004323	Abnormality of body weight	7518	XRCC4	OMIM:616541
HP:0004323	Abnormality of body weight	84068	SLC10A7	OMIM:618363
HP:0004323	Abnormality of body weight	3483	IGFALS	ORPHA:140941
HP:0004323	Abnormality of body weight	5116	PCNT	ORPHA:2637
HP:0004323	Abnormality of body weight	5116	PCNT	OMIM:210720
HP:0004323	Abnormality of body weight	64131	XYLT1	OMIM:615777
HP:0004323	Abnormality of body weight	64131	XYLT1	ORPHA:370930
HP:0004323	Abnormality of body weight	51322	WAC	ORPHA:466950
HP:0004323	Abnormality of body weight	84295	PHF6	ORPHA:127
HP:0004323	Abnormality of body weight	27241	BBS9	OMIM:615986
HP:0004323	Abnormality of body weight	2690	GHR	ORPHA:633
HP:0004323	Abnormality of body weight	81848	SPRY4	ORPHA:432
HP:0004323	Abnormality of body weight	60675	PROK2	ORPHA:432
HP:0004323	Abnormality of body weight	6870	TACR3	ORPHA:432
HP:0004323	Abnormality of body weight	1848	DUSP6	ORPHA:432
HP:0004323	Abnormality of body weight	26012	NSMF	ORPHA:432
HP:0004323	Abnormality of body weight	9394	HS6ST1	ORPHA:432
HP:0004323	Abnormality of body weight	2796	GNRH1	ORPHA:432
HP:0004323	Abnormality of body weight	2798	GNRHR	ORPHA:432
HP:0004323	Abnormality of body weight	84634	KISS1R	ORPHA:432
HP:0004323	Abnormality of body weight	6866	TAC3	ORPHA:432
HP:0004323	Abnormality of body weight	8822	FGF17	ORPHA:432
HP:0004323	Abnormality of body weight	3814	KISS1	ORPHA:432
HP:0004323	Abnormality of body weight	3730	ANOS1	OMIM:308700
HP:0004323	Abnormality of body weight	10382	TUBB4A	ORPHA:98805
HP:0004323	Abnormality of body weight	2100	ESR2	OMIM:618187
HP:0004323	Abnormality of body weight	1588	CYP19A1	ORPHA:91
HP:0004323	Abnormality of body weight	84196	USP48	ORPHA:96253
HP:0004323	Abnormality of body weight	7157	TP53	ORPHA:96253
HP:0004323	Abnormality of body weight	7157	TP53	ORPHA:1501
HP:0004323	Abnormality of body weight	9101	USP8	ORPHA:96253
HP:0004323	Abnormality of body weight	64072	CDH23	ORPHA:96253
HP:0004323	Abnormality of body weight	2908	NR3C1	ORPHA:96253
HP:0004323	Abnormality of body weight	673	BRAF	ORPHA:96253
HP:0004323	Abnormality of body weight	546	ATRX	ORPHA:96253
HP:0004323	Abnormality of body weight	64324	NSD1	OMIM:117550
HP:0004323	Abnormality of body weight	10743	RAI1	OMIM:182290
HP:0004323	Abnormality of body weight	5566	PRKACA	OMIM:615830
HP:0004323	Abnormality of body weight	5566	PRKACA	ORPHA:189439
HP:0004323	Abnormality of body weight	8622	PDE8B	ORPHA:189439
HP:0004323	Abnormality of body weight	5573	PRKAR1A	ORPHA:189439
HP:0004323	Abnormality of body weight	5573	PRKAR1A	ORPHA:1501
HP:0004323	Abnormality of body weight	5573	PRKAR1A	ORPHA:1359
HP:0004323	Abnormality of body weight	50940	PDE11A	ORPHA:189439
HP:0004323	Abnormality of body weight	50940	PDE11A	ORPHA:1359
HP:0004323	Abnormality of body weight	54551	MAGEL2	ORPHA:398069
HP:0004323	Abnormality of body weight	540	ATP7B	ORPHA:905
HP:0004323	Abnormality of body weight	5257	PHKB	ORPHA:79240
HP:0004323	Abnormality of body weight	79798	ARMC5	OMIM:615954
HP:0004323	Abnormality of body weight	79798	ARMC5	ORPHA:189427
HP:0004323	Abnormality of body weight	7068	THRB	OMIM:274300
HP:0004323	Abnormality of body weight	4221	MEN1	ORPHA:97279
HP:0004323	Abnormality of body weight	7528	YY1	ORPHA:97279
HP:0004323	Abnormality of body weight	84133	ZNRF3	ORPHA:1501
HP:0004323	Abnormality of body weight	1499	CTNNB1	ORPHA:1501
HP:0004323	Abnormality of body weight	1029	CDKN2A	ORPHA:1501
HP:0004323	Abnormality of body weight	7015	TERT	ORPHA:1501
HP:0004323	Abnormality of body weight	7319	UBE2A	OMIM:300860
HP:0004323	Abnormality of body weight	3172	HNF4A	ORPHA:263455
HP:0004323	Abnormality of body weight	55023	PHIP	ORPHA:589905
HP:0004323	Abnormality of body weight	5256	PHKA2	ORPHA:264580
HP:0004323	Abnormality of body weight	5261	PHKG2	ORPHA:264580
HP:0004323	Abnormality of body weight	7067	THRA	OMIM:614450
HP:0004323	Abnormality of body weight	2778	GNAS	ORPHA:189427
HP:0004323	Abnormality of body weight	3075	CFH	ORPHA:244242
HP:0004323	Abnormality of body weight	3426	CFI	ORPHA:244242
HP:0004323	Abnormality of body weight	4179	CD46	ORPHA:244242
HP:0004323	Abnormality of body weight	101101692	HELLPAR	ORPHA:244242
HP:0004323	Abnormality of body weight	64132	XYLT2	OMIM:605822
HP:0004323	Abnormality of body weight	51574	LARP7	OMIM:615071
HP:0004323	Abnormality of body weight	23141	ANKLE2	OMIM:616681
HP:0004323	Abnormality of body weight	10785	WDR4	OMIM:618346
HP:0004323	Abnormality of body weight	10785	WDR4	OMIM:618347
HP:0004323	Abnormality of body weight	151648	SGO1	OMIM:616201
HP:0004323	Abnormality of body weight	83932	SPRTN	OMIM:616200
HP:0004323	Abnormality of body weight	23019	CNOT1	OMIM:619033
HP:0004323	Abnormality of body weight	54517	PUS7	OMIM:618342
HP:0004323	Abnormality of body weight	8573	CASK	OMIM:300749
HP:0004323	Abnormality of body weight	2629	GBA1	OMIM:608013
HP:0004323	Abnormality of body weight	2629	GBA1	OMIM:231000
HP:0004323	Abnormality of body weight	5324	PLAG1	OMIM:618907
HP:0004323	Abnormality of body weight	10084	PQBP1	ORPHA:93950
HP:0004323	Abnormality of body weight	10084	PQBP1	ORPHA:93945
HP:0004323	Abnormality of body weight	5745	PTH1R	OMIM:600002
HP:0004323	Abnormality of body weight	3481	IGF2	ORPHA:231140
HP:0004323	Abnormality of body weight	3481	IGF2	OMIM:616489
HP:0004323	Abnormality of body weight	283120	H19	ORPHA:231140
HP:0004323	Abnormality of body weight	10479	SLC9A6	OMIM:300243
HP:0004323	Abnormality of body weight	1294	COL7A1	ORPHA:89842
HP:0004323	Abnormality of body weight	55215	FANCI	OMIM:609053
HP:0004323	Abnormality of body weight	25914	RTTN	OMIM:614833
HP:0004323	Abnormality of body weight	50	ACO2	OMIM:614559
HP:0004323	Abnormality of body weight	4286	MITF	OMIM:617306
HP:0004323	Abnormality of body weight	2067	ERCC1	OMIM:610758
HP:0004323	Abnormality of body weight	3908	LAMA2	ORPHA:258
HP:0004323	Abnormality of body weight	55249	YY1AP1	OMIM:602531
HP:0004323	Abnormality of body weight	6197	RPS6KA3	OMIM:303600
HP:0004323	Abnormality of body weight	64135	IFIH1	OMIM:182250
HP:0004323	Abnormality of body weight	57190	SELENON	OMIM:602771
HP:0004323	Abnormality of body weight	4784	NFIX	OMIM:602535
HP:0004323	Abnormality of body weight	79868	ALG13	ORPHA:324422
HP:0004323	Abnormality of body weight	254394	MCM9	OMIM:616185
HP:0004323	Abnormality of body weight	54453	RIN2	OMIM:613075
HP:0004323	Abnormality of body weight	25885	POLR1A	OMIM:616462
HP:0004323	Abnormality of body weight	7343	UBTF	OMIM:617672
HP:0004323	Abnormality of body weight	2072	ERCC4	OMIM:278760
HP:0004323	Abnormality of body weight	83987	CCDC8	OMIM:614205
HP:0004323	Abnormality of body weight	3858	KRT10	OMIM:609165
HP:0004323	Abnormality of body weight	7703	PCGF2	OMIM:618371
HP:0004323	Abnormality of body weight	3479	IGF1	OMIM:608747
HP:0004323	Abnormality of body weight	1327	COX4I1	OMIM:619060
HP:0004323	Abnormality of body weight	1760	DMPK	ORPHA:589821
HP:0004323	Abnormality of body weight	271	AMPD2	ORPHA:401805
HP:0004323	Abnormality of body weight	372	ARCN1	OMIM:617164
HP:0004323	Abnormality of body weight	7156	TOP3A	OMIM:618097
HP:0004323	Abnormality of body weight	4174	MCM5	OMIM:617564
HP:0004323	Abnormality of body weight	7403	KDM6A	OMIM:300867
HP:0004323	Abnormality of body weight	649	BMP1	OMIM:614856
HP:0004323	Abnormality of body weight	6304	SATB1	OMIM:619229
HP:0004323	Abnormality of body weight	9419	CRIPT	OMIM:615789
HP:0004323	Abnormality of body weight	4000	LMNA	ORPHA:79474
HP:0004323	Abnormality of body weight	55768	NGLY1	OMIM:615273
HP:0004323	Abnormality of body weight	339983	NAT8L	OMIM:614063
HP:0004323	Abnormality of body weight	54809	SAMD9	OMIM:617053
HP:0004323	Abnormality of body weight	57003	CCDC47	OMIM:618268
HP:0004323	Abnormality of body weight	29081	METTL5	OMIM:618665
HP:0004323	Abnormality of body weight	29895	MYL11	OMIM:619110
HP:0004323	Abnormality of body weight	55773	TBC1D23	OMIM:617695
HP:0004323	Abnormality of body weight	8558	CDK10	OMIM:617694
HP:0004323	Abnormality of body weight	145173	B3GLCT	OMIM:261540
HP:0004323	Abnormality of body weight	5530	PPP3CA	OMIM:618265
HP:0004323	Abnormality of body weight	6711	SPTBN1	OMIM:619475
HP:0004323	Abnormality of body weight	51633	OTUD6B	OMIM:617452
HP:0004323	Abnormality of body weight	51633	OTUD6B	ORPHA:505237
HP:0004323	Abnormality of body weight	3643	INSR	ORPHA:508
HP:0004323	Abnormality of body weight	80152	CENPT	OMIM:618702
HP:0004323	Abnormality of body weight	150468	CKAP2L	OMIM:272440
HP:0004323	Abnormality of body weight	8720	MBTPS1	OMIM:618392
HP:0004323	Abnormality of body weight	79718	TBL1XR1	OMIM:602342
HP:0004323	Abnormality of body weight	2316	FLNA	OMIM:300321
HP:0004323	Abnormality of body weight	54880	BCOR	OMIM:300166
HP:0004323	Abnormality of body weight	5162	PDHB	ORPHA:255138
HP:0004323	Abnormality of body weight	8567	MADD	OMIM:619004
HP:0004323	Abnormality of body weight	8567	MADD	OMIM:619005
HP:0004323	Abnormality of body weight	8318	CDC45	OMIM:617063
HP:0004323	Abnormality of body weight	1654	DDX3X	OMIM:300958
HP:0004323	Abnormality of body weight	93587	TRMT10A	ORPHA:391408
HP:0004323	Abnormality of body weight	84919	PPP1R15B	ORPHA:391408
HP:0004323	Abnormality of body weight	126792	B3GALT6	OMIM:271640
HP:0004323	Abnormality of body weight	126792	B3GALT6	OMIM:615349
HP:0004323	Abnormality of body weight	8242	KDM5C	OMIM:300534
HP:0004323	Abnormality of body weight	9968	MED12	OMIM:300895
HP:0004323	Abnormality of body weight	3739	KCNA4	OMIM:618284
HP:0004323	Abnormality of body weight	85365	ALG2	OMIM:607906
HP:0004323	Abnormality of body weight	2806	GOT2	OMIM:618721
HP:0004323	Abnormality of body weight	55835	CENPJ	OMIM:613676
HP:0004323	Abnormality of body weight	5824	PEX19	OMIM:614886
HP:0004323	Abnormality of body weight	1788	DNMT3A	OMIM:618724
HP:0004323	Abnormality of body weight	3339	HSPG2	ORPHA:800
HP:0004323	Abnormality of body weight	9451	EIF2AK3	ORPHA:1667
HP:0004323	Abnormality of body weight	506	ATP5F1B	OMIM:620085
HP:0004323	Abnormality of body weight	4204	MECP2	OMIM:300260
HP:0004323	Abnormality of body weight	5611	DNAJC3	ORPHA:445062
HP:0004323	Abnormality of body weight	1804	DPP6	OMIM:616311
HP:0004323	Abnormality of body weight	83452	RAB33B	OMIM:615222
HP:0004323	Abnormality of body weight	22930	RAB3GAP1	OMIM:619420
HP:0004323	Abnormality of body weight	9276	COPB2	OMIM:617800
HP:0004323	Abnormality of body weight	10892	MALT1	OMIM:615468
HP:0004323	Abnormality of body weight	529	ATP6V1E1	OMIM:617402
HP:0004323	Abnormality of body weight	5426	POLE	OMIM:618336
HP:0004323	Abnormality of body weight	2693	GHSR	ORPHA:314811
HP:0004323	Abnormality of body weight	27445	PCLO	OMIM:608027
HP:0004323	Abnormality of body weight	3480	IGF1R	OMIM:270450
HP:0004323	Abnormality of body weight	27152	INTU	OMIM:617926
HP:0004323	Abnormality of body weight	8506	CNTNAP1	OMIM:618186
HP:0004323	Abnormality of body weight	9935	MAFB	ORPHA:2774
HP:0004323	Abnormality of body weight	4591	TRIM37	ORPHA:2576
HP:0004323	Abnormality of body weight	2521	FUS	ORPHA:300605
HP:0004323	Abnormality of body weight	10280	SIGMAR1	ORPHA:300605
HP:0004323	Abnormality of body weight	10558	SPTLC1	ORPHA:300605
HP:0004323	Abnormality of body weight	57679	ALS2	ORPHA:300605
HP:0004323	Abnormality of body weight	3662	IRF4	ORPHA:3452
HP:0004323	Abnormality of body weight	34	ACADM	ORPHA:42
HP:0004323	Abnormality of body weight	545	ATR	ORPHA:808
HP:0004323	Abnormality of body weight	79902	NUP85	ORPHA:808
HP:0004323	Abnormality of body weight	84126	ATRIP	ORPHA:808
HP:0004323	Abnormality of body weight	22995	CEP152	ORPHA:808
HP:0004323	Abnormality of body weight	10733	PLK4	ORPHA:808
HP:0004323	Abnormality of body weight	4683	NBN	ORPHA:647
HP:0004323	Abnormality of body weight	10273	STUB1	OMIM:618093
HP:0004323	Abnormality of body weight	59341	TRPV4	ORPHA:1216
HP:0004323	Abnormality of body weight	916	CD3E	ORPHA:169160
HP:0004323	Abnormality of body weight	4160	MC4R	ORPHA:71529
HP:0004323	Abnormality of body weight	56623	INPP5E	OMIM:610156
HP:0004323	Abnormality of body weight	55599	RNPC3	OMIM:618160
HP:0004323	Abnormality of body weight	641	BLM	ORPHA:125
HP:0004323	Abnormality of body weight	8450	CUL4B	OMIM:300354
HP:0004323	Abnormality of body weight	3991	LIPE	OMIM:615980
HP:0004323	Abnormality of body weight	79576	NKAP	OMIM:301039
HP:0004323	Abnormality of body weight	8882	ZPR1	OMIM:619321
HP:0004323	Abnormality of body weight	6492	SIM1	ORPHA:398079
HP:0004323	Abnormality of body weight	9149	DYRK1B	OMIM:615812
HP:0004323	Abnormality of body weight	9049	AIP	OMIM:219090
HP:0004323	Abnormality of body weight	84100	ARL6	OMIM:209900
HP:0004323	Abnormality of body weight	79140	CCDC28B	OMIM:209900
HP:0004323	Abnormality of body weight	582	BBS1	OMIM:209900
HP:0004323	Abnormality of body weight	54805	CNNM2	OMIM:616418
HP:0004323	Abnormality of body weight	84679	SLC9A7	OMIM:301024
HP:0004323	Abnormality of body weight	10717	AP4B1	ORPHA:280763
HP:0004323	Abnormality of body weight	10717	AP4B1	OMIM:614066
HP:0004323	Abnormality of body weight	9179	AP4M1	ORPHA:280763
HP:0004323	Abnormality of body weight	11154	AP4S1	ORPHA:280763
HP:0004323	Abnormality of body weight	23431	AP4E1	ORPHA:280763
HP:0004323	Abnormality of body weight	23431	AP4E1	OMIM:613744
HP:0004323	Abnormality of body weight	57680	CHD8	OMIM:615032
HP:0004323	Abnormality of body weight	146862	UNC45B	OMIM:619178
HP:0004323	Abnormality of body weight	5626	PROP1	ORPHA:226307
HP:0004323	Abnormality of body weight	8022	LHX3	ORPHA:226307
HP:0004323	Abnormality of body weight	22859	ADGRL1	OMIM:620065
HP:0004323	Abnormality of body weight	7201	TRHR	ORPHA:99832
HP:0004323	Abnormality of body weight	1513	CTSK	ORPHA:763
HP:0004323	Abnormality of body weight	219854	TMEM218	OMIM:619562
HP:0004323	Abnormality of body weight	3547	IGSF1	OMIM:300888
HP:0004323	Abnormality of body weight	80208	SPG11	ORPHA:2822
HP:0004323	Abnormality of body weight	23590	PDSS1	OMIM:614651
HP:0004323	Abnormality of body weight	157657	CFAP418	OMIM:617406
HP:0004323	Abnormality of body weight	51341	ZBTB7A	OMIM:619769
HP:0004323	Abnormality of body weight	9325	TRIP4	ORPHA:486815
HP:0004323	Abnormality of body weight	2321	FLT1	ORPHA:275555
HP:0004323	Abnormality of body weight	219736	STOX1	ORPHA:275555
HP:0004323	Abnormality of body weight	10699	CORIN	ORPHA:275555
HP:0004323	Abnormality of body weight	57187	THOC2	OMIM:300957
HP:0004323	Abnormality of body weight	6934	TCF7L2	OMIM:125853
HP:0004323	Abnormality of body weight	3990	LIPC	OMIM:125853
HP:0004323	Abnormality of body weight	9479	MAPK8IP1	OMIM:125853
HP:0004323	Abnormality of body weight	56729	RETN	OMIM:125853
HP:0004323	Abnormality of body weight	4544	MTNR1B	OMIM:125853
HP:0004323	Abnormality of body weight	5506	PPP1R3A	OMIM:125853
HP:0004323	Abnormality of body weight	7466	WFS1	OMIM:125853
HP:0004323	Abnormality of body weight	10644	IGF2BP2	OMIM:125853
HP:0004323	Abnormality of body weight	5770	PTPN1	OMIM:125853
HP:0004323	Abnormality of body weight	8660	IRS2	OMIM:125853
HP:0004323	Abnormality of body weight	3159	HMGA1	OMIM:125853
HP:0004323	Abnormality of body weight	6928	HNF1B	OMIM:125853
HP:0004323	Abnormality of body weight	3667	IRS1	OMIM:125853
HP:0004323	Abnormality of body weight	169026	SLC30A8	OMIM:125853
HP:0004323	Abnormality of body weight	2820	GPD2	OMIM:125853
HP:0004323	Abnormality of body weight	154	ADRB2	OMIM:601665
HP:0004323	Abnormality of body weight	155	ADRB3	OMIM:601665
HP:0004323	Abnormality of body weight	7352	UCP3	OMIM:601665
HP:0004323	Abnormality of body weight	8431	NR0B2	OMIM:601665
HP:0004323	Abnormality of body weight	9607	CARTPT	OMIM:601665
HP:0004323	Abnormality of body weight	51738	GHRL	OMIM:601665
HP:0004323	Abnormality of body weight	9672	SDC3	OMIM:601665
HP:0004323	Abnormality of body weight	181	AGRP	OMIM:601665
HP:0004326	Cachexia	8506	CNTNAP1	OMIM:618186
HP:0004326	Cachexia	6340	SCNN1G	ORPHA:60033
HP:0004326	Cachexia	1080	CFTR	ORPHA:60033
HP:0004326	Cachexia	6337	SCNN1A	ORPHA:60033
HP:0004326	Cachexia	6338	SCNN1B	ORPHA:60033
HP:0004326	Cachexia	285175	UNC80	OMIM:616801
HP:0004326	Cachexia	285175	UNC80	ORPHA:371364
HP:0004326	Cachexia	259232	NALCN	ORPHA:371364
HP:0004326	Cachexia	1890	TYMP	OMIM:603041
HP:0004326	Cachexia	1890	TYMP	ORPHA:298
HP:0004326	Cachexia	5428	POLG	OMIM:603041
HP:0004326	Cachexia	5428	POLG	OMIM:613662
HP:0004326	Cachexia	5428	POLG	ORPHA:298
HP:0004326	Cachexia	5728	PTEN	ORPHA:109
HP:0004326	Cachexia	5728	PTEN	ORPHA:744
HP:0004326	Cachexia	5728	PTEN	ORPHA:79076
HP:0004326	Cachexia	811	CALR	ORPHA:824
HP:0004326	Cachexia	4352	MPL	ORPHA:824
HP:0004326	Cachexia	3717	JAK2	ORPHA:824
HP:0004326	Cachexia	54790	TET2	ORPHA:824
HP:0004326	Cachexia	7040	TGFB1	ORPHA:1328
HP:0004326	Cachexia	9935	MAFB	ORPHA:2774
HP:0004326	Cachexia	4591	TRIM37	ORPHA:2576
HP:0004326	Cachexia	207	AKT1	ORPHA:744
HP:0004326	Cachexia	2521	FUS	ORPHA:300605
HP:0004326	Cachexia	80208	SPG11	ORPHA:300605
HP:0004326	Cachexia	10280	SIGMAR1	ORPHA:300605
HP:0004326	Cachexia	10558	SPTLC1	ORPHA:300605
HP:0004326	Cachexia	57679	ALS2	ORPHA:300605
HP:0004326	Cachexia	6535	SLC6A8	ORPHA:52503
HP:0004326	Cachexia	2130	EWSR1	ORPHA:83469
HP:0004326	Cachexia	7490	WT1	ORPHA:83469
HP:0004326	Cachexia	2670	GFAP	ORPHA:363717
HP:0004326	Cachexia	2068	ERCC2	ORPHA:220295
HP:0004326	Cachexia	2073	ERCC5	ORPHA:220295
HP:0004326	Cachexia	2072	ERCC4	ORPHA:220295
HP:0004326	Cachexia	2072	ERCC4	OMIM:610965
HP:0004326	Cachexia	2071	ERCC3	ORPHA:220295
HP:0004326	Cachexia	8450	CUL4B	ORPHA:85293
HP:0004326	Cachexia	3662	IRF4	ORPHA:3452
HP:0004326	Cachexia	3980	LIG3	ORPHA:298
HP:0004326	Cachexia	50484	RRM2B	ORPHA:298
HP:0004326	Cachexia	50484	RRM2B	OMIM:612075
HP:0004326	Cachexia	3988	LIPA	ORPHA:75233
HP:0004326	Cachexia	9663	LPIN2	ORPHA:77297
HP:0004326	Cachexia	34	ACADM	ORPHA:42
HP:0004326	Cachexia	4000	LMNA	ORPHA:157973
HP:0004326	Cachexia	2629	GBA1	ORPHA:2072
HP:0004326	Cachexia	10479	SLC9A6	ORPHA:85278
HP:0004326	Cachexia	50943	FOXP3	ORPHA:37042
HP:0004326	Cachexia	545	ATR	ORPHA:808
HP:0004326	Cachexia	1062	CENPE	ORPHA:808
HP:0004326	Cachexia	5116	PCNT	ORPHA:808
HP:0004326	Cachexia	5932	RBBP8	ORPHA:808
HP:0004326	Cachexia	79902	NUP85	ORPHA:808
HP:0004326	Cachexia	84126	ATRIP	ORPHA:808
HP:0004326	Cachexia	55835	CENPJ	ORPHA:808
HP:0004326	Cachexia	10293	TRAIP	ORPHA:808
HP:0004326	Cachexia	22995	CEP152	ORPHA:808
HP:0004326	Cachexia	10733	PLK4	ORPHA:808
HP:0004326	Cachexia	4683	NBN	ORPHA:647
HP:0004326	Cachexia	2581	GALC	ORPHA:206436
HP:0004326	Cachexia	5660	PSAP	ORPHA:206436
HP:0004326	Cachexia	4693	NDP	ORPHA:649
HP:0004326	Cachexia	3339	HSPG2	ORPHA:800
HP:0004326	Cachexia	10273	STUB1	OMIM:618093
HP:0004326	Cachexia	4204	MECP2	OMIM:312750
HP:0004326	Cachexia	657	BMPR1A	ORPHA:79076
HP:0004326	Cachexia	8803	SUCLA2	ORPHA:1933
HP:0004326	Cachexia	59341	TRPV4	ORPHA:1216
HP:0004327	Abnormal vitreous humor morphology	8322	FZD4	OMIM:133780
HP:0004327	Abnormal vitreous humor morphology	4041	LRP5	OMIM:133780
HP:0004327	Abnormal vitreous humor morphology	4041	LRP5	OMIM:601813
HP:0004327	Abnormal vitreous humor morphology	79797	ZNF408	OMIM:616468
HP:0004327	Abnormal vitreous humor morphology	80781	COL18A1	OMIM:267750
HP:0004327	Abnormal vitreous humor morphology	80781	COL18A1	ORPHA:1571
HP:0004327	Abnormal vitreous humor morphology	10002	NR2E3	OMIM:268100
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	OMIM:154780
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	ORPHA:560
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	1298	COL9A2	OMIM:614284
HP:0004327	Abnormal vitreous humor morphology	1298	COL9A2	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	23418	CRB1	OMIM:172870
HP:0004327	Abnormal vitreous humor morphology	1299	COL9A3	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	84695	LOXL3	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	7276	TTR	OMIM:105210
HP:0004327	Abnormal vitreous humor morphology	1499	CTNNB1	ORPHA:891
HP:0004327	Abnormal vitreous humor morphology	23554	TSPAN12	ORPHA:891
HP:0004327	Abnormal vitreous humor morphology	726	CAPN5	OMIM:193235
HP:0004327	Abnormal vitreous humor morphology	7439	BEST1	OMIM:193220
HP:0004327	Abnormal vitreous humor morphology	5624	PROC	OMIM:612304
HP:0004327	Abnormal vitreous humor morphology	6247	RS1	OMIM:312700
HP:0004327	Abnormal vitreous humor morphology	8314	BAP1	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	57105	CYSLTR2	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	2776	GNAQ	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	2767	GNA11	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	23451	SF3B1	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	23137	SMC5	OMIM:620185
HP:0004327	Abnormal vitreous humor morphology	1297	COL9A1	OMIM:614134
HP:0004327	Abnormal vitreous humor morphology	2065	ERBB3	OMIM:607598
HP:0004327	Abnormal vitreous humor morphology	1302	COL11A2	ORPHA:1427
HP:0004327	Abnormal vitreous humor morphology	54880	BCOR	OMIM:300166
HP:0004327	Abnormal vitreous humor morphology	57479	PRR12	OMIM:619539
HP:0004327	Abnormal vitreous humor morphology	729920	CRPPA	OMIM:614643
HP:0004327	Abnormal vitreous humor morphology	5080	PAX6	OMIM:165550
HP:0004327	Abnormal vitreous humor morphology	5080	PAX6	OMIM:120200
HP:0004327	Abnormal vitreous humor morphology	4771	NF2	ORPHA:637
HP:0004327	Abnormal vitreous humor morphology	3913	LAMB2	OMIM:609049
HP:0004327	Abnormal vitreous humor morphology	57688	ZSWIM6	OMIM:603671
HP:0004327	Abnormal vitreous humor morphology	6496	SIX3	OMIM:157170
HP:0004327	Abnormal vitreous humor morphology	3105	HLA-A	ORPHA:179
HP:0004327	Abnormal vitreous humor morphology	5925	RB1	OMIM:180200
HP:0004327	Abnormal vitreous humor morphology	54539	NDUFB11	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	1349	COX7B	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	3052	HCCS	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	3769	KCNJ13	OMIM:193230
HP:0004327	Abnormal vitreous humor morphology	1462	VCAN	OMIM:143200
HP:0004327	Abnormal vitreous humor morphology	1280	COL2A1	OMIM:132450
HP:0004327	Abnormal vitreous humor morphology	1280	COL2A1	ORPHA:166011
HP:0004327	Abnormal vitreous humor morphology	403	ARL3	OMIM:618173
HP:0004327	Abnormal vitreous humor morphology	10594	PRPF8	OMIM:600059
HP:0004327	Abnormal vitreous humor morphology	4693	NDP	ORPHA:91495
HP:0004327	Abnormal vitreous humor morphology	220202	ATOH7	ORPHA:91495
HP:0004327	Abnormal vitreous humor morphology	153642	ARSK	OMIM:619698
HP:0004327	Abnormal vitreous humor morphology	55214	P3H2	OMIM:614292
HP:0004327	Abnormal vitreous humor morphology	5062	PAK2	OMIM:618458
HP:0004328	Abnormal anterior eye segment morphology	27019	DNAI1	OMIM:244400
HP:0004328	Abnormal anterior eye segment morphology	3909	LAMA3	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	3918	LAMC2	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	3914	LAMB3	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	1277	COL1A1	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	1289	COL5A1	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	1290	COL5A2	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	1497	CTNS	ORPHA:411634
HP:0004328	Abnormal anterior eye segment morphology	1497	CTNS	ORPHA:411629
HP:0004328	Abnormal anterior eye segment morphology	1954	MEGF8	ORPHA:65759
HP:0004328	Abnormal anterior eye segment morphology	5351	PLOD1	OMIM:225400
HP:0004328	Abnormal anterior eye segment morphology	5351	PLOD1	ORPHA:1900
HP:0004328	Abnormal anterior eye segment morphology	7403	KDM6A	ORPHA:2322
HP:0004328	Abnormal anterior eye segment morphology	2314	FLII	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	23096	IQSEC2	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10743	RAI1	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10522	DEAF1	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10982	MAPRE2	OMIM:616734
HP:0004328	Abnormal anterior eye segment morphology	10982	MAPRE2	ORPHA:2505
HP:0004328	Abnormal anterior eye segment morphology	55033	FKBP14	OMIM:614557
HP:0004328	Abnormal anterior eye segment morphology	55033	FKBP14	ORPHA:300179
HP:0004328	Abnormal anterior eye segment morphology	646960	PRSS56	OMIM:613517
HP:0004328	Abnormal anterior eye segment morphology	79718	TBL1XR1	ORPHA:487825
HP:0004328	Abnormal anterior eye segment morphology	79718	TBL1XR1	OMIM:602342
HP:0004328	Abnormal anterior eye segment morphology	668	FOXL2	OMIM:110100
HP:0004328	Abnormal anterior eye segment morphology	10664	CTCF	ORPHA:363611
HP:0004328	Abnormal anterior eye segment morphology	203068	TUBB	OMIM:156610
HP:0004328	Abnormal anterior eye segment morphology	203068	TUBB	ORPHA:2505
HP:0004328	Abnormal anterior eye segment morphology	51715	RAB23	OMIM:201000
HP:0004328	Abnormal anterior eye segment morphology	92344	GORAB	ORPHA:2078
HP:0004328	Abnormal anterior eye segment morphology	170692	ADAMTS18	OMIM:615458
HP:0004328	Abnormal anterior eye segment morphology	6913	TBX15	OMIM:260660
HP:0004328	Abnormal anterior eye segment morphology	7528	YY1	ORPHA:506358
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	OMIM:300476
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	ORPHA:178333
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	OMIM:300600
HP:0004328	Abnormal anterior eye segment morphology	8036	SHOC2	OMIM:607721
HP:0004328	Abnormal anterior eye segment morphology	5087	PBX1	ORPHA:97362
HP:0004328	Abnormal anterior eye segment morphology	4099	MAG	OMIM:616680
HP:0004328	Abnormal anterior eye segment morphology	4099	MAG	ORPHA:459056
HP:0004328	Abnormal anterior eye segment morphology	51256	TBC1D7	OMIM:248000
HP:0004328	Abnormal anterior eye segment morphology	9759	HDAC4	OMIM:619797
HP:0004328	Abnormal anterior eye segment morphology	30000	TNPO2	OMIM:619556
HP:0004328	Abnormal anterior eye segment morphology	23241	PACS2	OMIM:618067
HP:0004328	Abnormal anterior eye segment morphology	10765	KDM5B	OMIM:618109
HP:0004328	Abnormal anterior eye segment morphology	64116	SLC39A8	OMIM:616721
HP:0004328	Abnormal anterior eye segment morphology	64116	SLC39A8	ORPHA:468699
HP:0004328	Abnormal anterior eye segment morphology	3008	H1-4	OMIM:617537
HP:0004328	Abnormal anterior eye segment morphology	7003	TEAD1	OMIM:108985
HP:0004328	Abnormal anterior eye segment morphology	118987	PDZD8	OMIM:620021
HP:0004328	Abnormal anterior eye segment morphology	84570	COL25A1	ORPHA:91411
HP:0004328	Abnormal anterior eye segment morphology	79776	ZFHX4	ORPHA:91411
HP:0004328	Abnormal anterior eye segment morphology	5575	PRKAR1B	OMIM:619680
HP:0004328	Abnormal anterior eye segment morphology	89910	UBE3B	OMIM:244450
HP:0004328	Abnormal anterior eye segment morphology	55209	SETD5	OMIM:615761
HP:0004328	Abnormal anterior eye segment morphology	6812	STXBP1	ORPHA:495818
HP:0004328	Abnormal anterior eye segment morphology	10686	CLDN16	OMIM:248250
HP:0004328	Abnormal anterior eye segment morphology	169522	KCNV2	OMIM:610356
HP:0004328	Abnormal anterior eye segment morphology	5010	CLDN11	OMIM:619328
HP:0004328	Abnormal anterior eye segment morphology	55777	MBD5	OMIM:156200
HP:0004328	Abnormal anterior eye segment morphology	56915	EXOSC5	OMIM:619576
HP:0004328	Abnormal anterior eye segment morphology	2590	GALNT2	OMIM:618885
HP:0004328	Abnormal anterior eye segment morphology	57492	ARID1B	OMIM:135900
HP:0004328	Abnormal anterior eye segment morphology	55870	ASH1L	OMIM:617796
HP:0004328	Abnormal anterior eye segment morphology	54496	PRMT7	OMIM:617157
HP:0004328	Abnormal anterior eye segment morphology	113189	CHST14	ORPHA:2953
HP:0004328	Abnormal anterior eye segment morphology	113189	CHST14	OMIM:601776
HP:0004328	Abnormal anterior eye segment morphology	29940	DSE	ORPHA:2953
HP:0004328	Abnormal anterior eye segment morphology	5119	CHMP1A	OMIM:614961
HP:0004328	Abnormal anterior eye segment morphology	816	CAMK2B	OMIM:617799
HP:0004328	Abnormal anterior eye segment morphology	1108	CHD4	OMIM:617159
HP:0004328	Abnormal anterior eye segment morphology	708	C1QBP	OMIM:617713
HP:0004328	Abnormal anterior eye segment morphology	9241	NOG	OMIM:186500
HP:0004328	Abnormal anterior eye segment morphology	222663	SCUBE3	OMIM:619184
HP:0004328	Abnormal anterior eye segment morphology	6045	RNF2	OMIM:619460
HP:0004328	Abnormal anterior eye segment morphology	9757	KMT2B	OMIM:617284
HP:0004328	Abnormal anterior eye segment morphology	9757	KMT2B	OMIM:619934
HP:0004328	Abnormal anterior eye segment morphology	54681	P4HTM	OMIM:618493
HP:0004328	Abnormal anterior eye segment morphology	4761	NEUROD2	OMIM:618374
HP:0004328	Abnormal anterior eye segment morphology	26040	SETBP1	OMIM:616078
HP:0004328	Abnormal anterior eye segment morphology	57178	ZMIZ1	OMIM:618659
HP:0004328	Abnormal anterior eye segment morphology	23065	EMC1	OMIM:616875
HP:0004328	Abnormal anterior eye segment morphology	23065	EMC1	ORPHA:480898
HP:0004328	Abnormal anterior eye segment morphology	149461	CLDN19	OMIM:248190
HP:0004328	Abnormal anterior eye segment morphology	165	AEBP1	ORPHA:536532
HP:0004328	Abnormal anterior eye segment morphology	2743	GLRB	OMIM:614619
HP:0004328	Abnormal anterior eye segment morphology	84265	POLR3GL	OMIM:619234
HP:0004328	Abnormal anterior eye segment morphology	253738	EBF3	OMIM:617330
HP:0004328	Abnormal anterior eye segment morphology	57498	KIDINS220	OMIM:617296
HP:0004328	Abnormal anterior eye segment morphology	57003	CCDC47	OMIM:618268
HP:0004328	Abnormal anterior eye segment morphology	134218	DNAJC21	OMIM:617052
HP:0004328	Abnormal anterior eye segment morphology	51604	PIGT	ORPHA:369837
HP:0004328	Abnormal anterior eye segment morphology	4659	PPP1R12A	OMIM:618820
HP:0004328	Abnormal anterior eye segment morphology	3098	HK1	OMIM:618547
HP:0004328	Abnormal anterior eye segment morphology	9091	PIGQ	OMIM:618548
HP:0004328	Abnormal anterior eye segment morphology	283446	MYO1H	OMIM:619482
HP:0004328	Abnormal anterior eye segment morphology	29123	ANKRD11	ORPHA:261250
HP:0004328	Abnormal anterior eye segment morphology	4784	NFIX	OMIM:614753
HP:0004328	Abnormal anterior eye segment morphology	1806	DPYD	ORPHA:1675
HP:0004328	Abnormal anterior eye segment morphology	1806	DPYD	ORPHA:293948
HP:0004328	Abnormal anterior eye segment morphology	2890	GRIA1	OMIM:619927
HP:0004328	Abnormal anterior eye segment morphology	23261	CAMTA1	OMIM:614756
HP:0004328	Abnormal anterior eye segment morphology	51341	ZBTB7A	OMIM:619769
HP:0004328	Abnormal anterior eye segment morphology	51322	WAC	ORPHA:284169
HP:0004328	Abnormal anterior eye segment morphology	51322	WAC	OMIM:616708
HP:0004328	Abnormal anterior eye segment morphology	80267	EDEM3	OMIM:619493
HP:0004328	Abnormal anterior eye segment morphology	5528	PPP2R5D	ORPHA:457279
HP:0004328	Abnormal anterior eye segment morphology	7994	KAT6A	OMIM:616268
HP:0004328	Abnormal anterior eye segment morphology	1107	CHD3	OMIM:618205
HP:0004328	Abnormal anterior eye segment morphology	6885	MAP3K7	ORPHA:1826
HP:0004328	Abnormal anterior eye segment morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0004328	Abnormal anterior eye segment morphology	224	ALDH3A2	OMIM:270200
HP:0004328	Abnormal anterior eye segment morphology	9181	ARHGEF2	OMIM:617523
HP:0004328	Abnormal anterior eye segment morphology	55294	FBXW7	OMIM:620012
HP:0004328	Abnormal anterior eye segment morphology	57459	GATAD2B	ORPHA:363686
HP:0004328	Abnormal anterior eye segment morphology	79158	GNPTAB	OMIM:252600
HP:0004328	Abnormal anterior eye segment morphology	23102	TBC1D2B	ORPHA:397973
HP:0004328	Abnormal anterior eye segment morphology	64221	ROBO3	OMIM:607313
HP:0004328	Abnormal anterior eye segment morphology	84168	ANTXR1	OMIM:230740
HP:0004328	Abnormal anterior eye segment morphology	3778	KCNMA1	OMIM:618729
HP:0004328	Abnormal anterior eye segment morphology	5515	PPP2CA	OMIM:618354
HP:0004328	Abnormal anterior eye segment morphology	285590	SH3PXD2B	OMIM:249420
HP:0004328	Abnormal anterior eye segment morphology	2245	FGD1	ORPHA:915
HP:0004328	Abnormal anterior eye segment morphology	114548	NLRP3	OMIM:148200
HP:0004328	Abnormal anterior eye segment morphology	7454	WAS	ORPHA:906
HP:0004328	Abnormal anterior eye segment morphology	7456	WIPF1	ORPHA:906
HP:0004328	Abnormal anterior eye segment morphology	5429	POLH	OMIM:278750
HP:0004328	Abnormal anterior eye segment morphology	5429	POLH	ORPHA:90342
HP:0004328	Abnormal anterior eye segment morphology	55343	SLC35C1	ORPHA:99843
HP:0004328	Abnormal anterior eye segment morphology	3572	IL6ST	OMIM:618523
HP:0004328	Abnormal anterior eye segment morphology	9244	CRLF1	OMIM:272430
HP:0004328	Abnormal anterior eye segment morphology	3850	KRT3	OMIM:618767
HP:0004328	Abnormal anterior eye segment morphology	22856	CHSY1	ORPHA:363417
HP:0004328	Abnormal anterior eye segment morphology	875	CBS	ORPHA:394
HP:0004328	Abnormal anterior eye segment morphology	1410	CRYAB	OMIM:608810
HP:0004328	Abnormal anterior eye segment morphology	1410	CRYAB	OMIM:615184
HP:0004328	Abnormal anterior eye segment morphology	26235	FBXL4	OMIM:615471
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	OMIM:615350
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	OMIM:615351
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	OMIM:615352
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	ORPHA:588
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	ORPHA:363623
HP:0004328	Abnormal anterior eye segment morphology	83932	SPRTN	OMIM:616200
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	ORPHA:1885
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	OMIM:184900
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	OMIM:608328
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	ORPHA:3449
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	OMIM:154700
HP:0004328	Abnormal anterior eye segment morphology	54507	ADAMTSL4	ORPHA:1885
HP:0004328	Abnormal anterior eye segment morphology	54507	ADAMTSL4	OMIM:225200
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	ORPHA:90324
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	OMIM:216400
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:90324
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	OMIM:214150
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	2972	BRF1	OMIM:616202
HP:0004328	Abnormal anterior eye segment morphology	2972	BRF1	ORPHA:444072
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	OMIM:615356
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	ORPHA:369840
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	ORPHA:369847
HP:0004328	Abnormal anterior eye segment morphology	4897	NRCAM	OMIM:619833
HP:0004328	Abnormal anterior eye segment morphology	81857	MED25	OMIM:616449
HP:0004328	Abnormal anterior eye segment morphology	1786	DNMT1	ORPHA:314404
HP:0004328	Abnormal anterior eye segment morphology	84942	WDR73	OMIM:251300
HP:0004328	Abnormal anterior eye segment morphology	1736	DKC1	OMIM:305000
HP:0004328	Abnormal anterior eye segment morphology	1736	DKC1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	347733	TUBB2B	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	7436	VLDLR	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	7436	VLDLR	OMIM:224050
HP:0004328	Abnormal anterior eye segment morphology	124997	WDR81	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	51761	ATP8A2	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	767	CA8	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	6720	SREBF1	OMIM:158310
HP:0004328	Abnormal anterior eye segment morphology	6720	SREBF1	OMIM:619016
HP:0004328	Abnormal anterior eye segment morphology	114803	MYSM1	ORPHA:508542
HP:0004328	Abnormal anterior eye segment morphology	54714	CNGB3	OMIM:262300
HP:0004328	Abnormal anterior eye segment morphology	5728	PTEN	ORPHA:2969
HP:0004328	Abnormal anterior eye segment morphology	5728	PTEN	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	5728	PTEN	ORPHA:744
HP:0004328	Abnormal anterior eye segment morphology	5728	PTEN	OMIM:158350
HP:0004328	Abnormal anterior eye segment morphology	4286	MITF	OMIM:617306
HP:0004328	Abnormal anterior eye segment morphology	7486	WRN	OMIM:277700
HP:0004328	Abnormal anterior eye segment morphology	7486	WRN	ORPHA:902
HP:0004328	Abnormal anterior eye segment morphology	7086	TKT	ORPHA:488618
HP:0004328	Abnormal anterior eye segment morphology	3105	HLA-A	ORPHA:179
HP:0004328	Abnormal anterior eye segment morphology	112802	KRT71	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	121391	KRT74	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	200879	LIPH	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	10161	LPAR6	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	147183	KRT25	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	23250	ATP11A	OMIM:619851
HP:0004328	Abnormal anterior eye segment morphology	1298	COL9A2	OMIM:614284
HP:0004328	Abnormal anterior eye segment morphology	1298	COL9A2	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	130589	GALM	OMIM:618881
HP:0004328	Abnormal anterior eye segment morphology	130589	GALM	ORPHA:570422
HP:0004328	Abnormal anterior eye segment morphology	2671	GFER	OMIM:613076
HP:0004328	Abnormal anterior eye segment morphology	79797	ZNF408	OMIM:616468
HP:0004328	Abnormal anterior eye segment morphology	79797	ZNF408	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	79797	ZNF408	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	54880	BCOR	ORPHA:2712
HP:0004328	Abnormal anterior eye segment morphology	54880	BCOR	ORPHA:568
HP:0004328	Abnormal anterior eye segment morphology	55699	IARS2	ORPHA:436174
HP:0004328	Abnormal anterior eye segment morphology	55699	IARS2	OMIM:616007
HP:0004328	Abnormal anterior eye segment morphology	51109	RDH11	OMIM:616108
HP:0004328	Abnormal anterior eye segment morphology	84100	ARL6	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	84100	ARL6	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	79140	CCDC28B	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	582	BBS1	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	582	BBS1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	79184	BRCC3	ORPHA:280679
HP:0004328	Abnormal anterior eye segment morphology	6100	RP9	OMIM:180104
HP:0004328	Abnormal anterior eye segment morphology	6100	RP9	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7020	TFAP2A	OMIM:113620
HP:0004328	Abnormal anterior eye segment morphology	7020	TFAP2A	ORPHA:1297
HP:0004328	Abnormal anterior eye segment morphology	2512	FTL	ORPHA:163
HP:0004328	Abnormal anterior eye segment morphology	2512	FTL	ORPHA:254704
HP:0004328	Abnormal anterior eye segment morphology	857	CAV1	OMIM:606721
HP:0004328	Abnormal anterior eye segment morphology	23347	SMCHD1	OMIM:603457
HP:0004328	Abnormal anterior eye segment morphology	23347	SMCHD1	ORPHA:2250
HP:0004328	Abnormal anterior eye segment morphology	8726	EED	OMIM:617561
HP:0004328	Abnormal anterior eye segment morphology	54968	TMEM70	OMIM:614052
HP:0004328	Abnormal anterior eye segment morphology	55214	P3H2	OMIM:614292
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:90653
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:1856
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:485
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:132450
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:156550
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:166011
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:108300
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:93296
HP:0004328	Abnormal anterior eye segment morphology	8550	MAPKAPK5	OMIM:619869
HP:0004328	Abnormal anterior eye segment morphology	1201	CLN3	OMIM:204200
HP:0004328	Abnormal anterior eye segment morphology	1201	CLN3	ORPHA:228346
HP:0004328	Abnormal anterior eye segment morphology	64132	XYLT2	ORPHA:85194
HP:0004328	Abnormal anterior eye segment morphology	64132	XYLT2	OMIM:605822
HP:0004328	Abnormal anterior eye segment morphology	23268	DNMBP	OMIM:618415
HP:0004328	Abnormal anterior eye segment morphology	10716	TBR1	ORPHA:1617
HP:0004328	Abnormal anterior eye segment morphology	2316	FLNA	ORPHA:90652
HP:0004328	Abnormal anterior eye segment morphology	2316	FLNA	OMIM:304120
HP:0004328	Abnormal anterior eye segment morphology	81794	ADAMTS10	OMIM:277600
HP:0004328	Abnormal anterior eye segment morphology	81794	ADAMTS10	ORPHA:3449
HP:0004328	Abnormal anterior eye segment morphology	3981	LIG4	ORPHA:235
HP:0004328	Abnormal anterior eye segment morphology	54888	NSUN2	ORPHA:235
HP:0004328	Abnormal anterior eye segment morphology	2936	GSR	OMIM:618660
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	OMIM:614186
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	OMIM:193230
HP:0004328	Abnormal anterior eye segment morphology	27125	AFF4	OMIM:616368
HP:0004328	Abnormal anterior eye segment morphology	27125	AFF4	ORPHA:444077
HP:0004328	Abnormal anterior eye segment morphology	2592	GALT	OMIM:230400
HP:0004328	Abnormal anterior eye segment morphology	2592	GALT	ORPHA:79239
HP:0004328	Abnormal anterior eye segment morphology	116115	ZNF526	OMIM:619877
HP:0004328	Abnormal anterior eye segment morphology	5590	PRKCZ	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	2563	GABRD	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	23013	SPEN	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	8510	MMP23B	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	7798	LUZP1	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	6497	SKI	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	10630	PDPN	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	OMIM:255800
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	OMIM:224410
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	ORPHA:800
HP:0004328	Abnormal anterior eye segment morphology	10277	UBE4B	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	8514	KCNAB2	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	473	RERE	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	63976	PRDM16	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	54897	CASZ1	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	415	ARSL	ORPHA:79345
HP:0004328	Abnormal anterior eye segment morphology	415	ARSL	OMIM:302950
HP:0004328	Abnormal anterior eye segment morphology	4567	MT-TL1	ORPHA:225
HP:0004328	Abnormal anterior eye segment morphology	4556	MT-TE	ORPHA:225
HP:0004328	Abnormal anterior eye segment morphology	4566	MT-TK	ORPHA:225
HP:0004328	Abnormal anterior eye segment morphology	229	ALDOB	ORPHA:469
HP:0004328	Abnormal anterior eye segment morphology	85365	ALG2	ORPHA:79326
HP:0004328	Abnormal anterior eye segment morphology	85365	ALG2	OMIM:607906
HP:0004328	Abnormal anterior eye segment morphology	5605	MAP2K2	OMIM:615280
HP:0004328	Abnormal anterior eye segment morphology	253959	RALGAPA1	OMIM:618797
HP:0004328	Abnormal anterior eye segment morphology	2232	FDXR	ORPHA:543470
HP:0004328	Abnormal anterior eye segment morphology	4285	MIPEP	OMIM:617228
HP:0004328	Abnormal anterior eye segment morphology	6121	RPE65	OMIM:204100
HP:0004328	Abnormal anterior eye segment morphology	6121	RPE65	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6121	RPE65	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	9562	MINPP1	OMIM:619527
HP:0004328	Abnormal anterior eye segment morphology	26154	ABCA12	ORPHA:457
HP:0004328	Abnormal anterior eye segment morphology	5373	PMM2	ORPHA:79318
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	OMIM:109400
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	ORPHA:77301
HP:0004328	Abnormal anterior eye segment morphology	8643	PTCH2	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	51684	SUFU	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	57724	EPG5	OMIM:242840
HP:0004328	Abnormal anterior eye segment morphology	57724	EPG5	ORPHA:1493
HP:0004328	Abnormal anterior eye segment morphology	55739	NAXD	OMIM:618321
HP:0004328	Abnormal anterior eye segment morphology	326	AIRE	OMIM:240300
HP:0004328	Abnormal anterior eye segment morphology	326	AIRE	ORPHA:3453
HP:0004328	Abnormal anterior eye segment morphology	57479	PRR12	OMIM:619539
HP:0004328	Abnormal anterior eye segment morphology	5741	PTH	OMIM:146200
HP:0004328	Abnormal anterior eye segment morphology	4052	LTBP1	ORPHA:90349
HP:0004328	Abnormal anterior eye segment morphology	30008	EFEMP2	ORPHA:90349
HP:0004328	Abnormal anterior eye segment morphology	2303	FOXC2	ORPHA:33001
HP:0004328	Abnormal anterior eye segment morphology	10195	ALG3	ORPHA:79321
HP:0004328	Abnormal anterior eye segment morphology	64127	NOD2	ORPHA:90340
HP:0004328	Abnormal anterior eye segment morphology	64127	NOD2	OMIM:186580
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:79443
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:79444
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:94089
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:612463
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:612462
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:103580
HP:0004328	Abnormal anterior eye segment morphology	84295	PHF6	ORPHA:127
HP:0004328	Abnormal anterior eye segment morphology	79053	ALG8	ORPHA:79325
HP:0004328	Abnormal anterior eye segment morphology	9896	FIG4	OMIM:216340
HP:0004328	Abnormal anterior eye segment morphology	9896	FIG4	ORPHA:3472
HP:0004328	Abnormal anterior eye segment morphology	257	ALX3	OMIM:136760
HP:0004328	Abnormal anterior eye segment morphology	257	ALX3	ORPHA:391474
HP:0004328	Abnormal anterior eye segment morphology	23676	SMPX	OMIM:301075
HP:0004328	Abnormal anterior eye segment morphology	404672	GTF2H5	OMIM:616395
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	OMIM:618332
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	ORPHA:353281
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	OMIM:180849
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	ORPHA:353277
HP:0004328	Abnormal anterior eye segment morphology	9742	IFT140	OMIM:266920
HP:0004328	Abnormal anterior eye segment morphology	9742	IFT140	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9742	IFT140	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	OMIM:616271
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	ORPHA:445038
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	OMIM:619813
HP:0004328	Abnormal anterior eye segment morphology	58497	PRUNE1	OMIM:617481
HP:0004328	Abnormal anterior eye segment morphology	58497	PRUNE1	ORPHA:544469
HP:0004328	Abnormal anterior eye segment morphology	3980	LIG3	OMIM:619780
HP:0004328	Abnormal anterior eye segment morphology	26173	INTS1	OMIM:618571
HP:0004328	Abnormal anterior eye segment morphology	84695	LOXL3	OMIM:619781
HP:0004328	Abnormal anterior eye segment morphology	84695	LOXL3	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	OMIM:619420
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	ORPHA:1387
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	84188	FAR1	OMIM:616154
HP:0004328	Abnormal anterior eye segment morphology	84188	FAR1	OMIM:619338
HP:0004328	Abnormal anterior eye segment morphology	3000	GUCY2D	OMIM:204000
HP:0004328	Abnormal anterior eye segment morphology	3000	GUCY2D	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	29968	PSAT1	OMIM:616038
HP:0004328	Abnormal anterior eye segment morphology	27429	HTRA2	OMIM:617248
HP:0004328	Abnormal anterior eye segment morphology	389827	MYMK	OMIM:254940
HP:0004328	Abnormal anterior eye segment morphology	149233	IL23R	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	6775	STAT4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	6775	STAT4	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	3586	IL10	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	4210	MEFV	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	1230	CCR1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	355	FAS	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	355	FAS	ORPHA:3437
HP:0004328	Abnormal anterior eye segment morphology	3592	IL12A	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	3106	HLA-B	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	7099	TLR4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	3459	IFNGR1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	720	C4A	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	337867	UBAC2	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	51752	ERAP1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	8302	KLRC4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	9949	AMMECR1	OMIM:300990
HP:0004328	Abnormal anterior eye segment morphology	291	SLC25A4	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	291	SLC25A4	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	291	SLC25A4	OMIM:615418
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	OMIM:157640
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	OMIM:607459
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	ORPHA:70595
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	OMIM:609286
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	OMIM:607459
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	ORPHA:70595
HP:0004328	Abnormal anterior eye segment morphology	11232	POLG2	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	50484	RRM2B	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	50484	RRM2B	OMIM:268315
HP:0004328	Abnormal anterior eye segment morphology	9361	LONP1	OMIM:600373
HP:0004328	Abnormal anterior eye segment morphology	9361	LONP1	ORPHA:1458
HP:0004328	Abnormal anterior eye segment morphology	3912	LAMB1	OMIM:615191
HP:0004328	Abnormal anterior eye segment morphology	6247	RS1	ORPHA:792
HP:0004328	Abnormal anterior eye segment morphology	92840	REEP6	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6094	ROM1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6017	RLBP1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7401	CLRN1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7401	CLRN1	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	24	ABCA4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	130557	ZNF513	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	92211	CDHR1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23568	ARL2BP	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	54806	AHI1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6101	RP1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3419	IDH3A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4751	NEK2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	346007	EYS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	8100	IFT88	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23020	SNRNP200	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	762	CA4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	138050	HGSNAT	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	196	AHR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3614	IMPDH1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3614	IMPDH1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	123016	TTC8	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6103	RPGR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1406	CRX	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1406	CRX	OMIM:613829
HP:0004328	Abnormal anterior eye segment morphology	1406	CRX	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	5148	PDE6G	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	26160	IFT172	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	26121	PRPF31	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	583	BBS2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4117	MAK	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	25794	FSCN2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	375298	CERKL	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3420	IDH3B	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	57670	KIAA1549	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7275	TUB	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	24148	PRPF6	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23418	CRB1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23418	CRB1	OMIM:613835
HP:0004328	Abnormal anterior eye segment morphology	23418	CRB1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	10461	MERTK	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	57709	SLC7A14	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	768206	PRCD	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7399	USH2A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7399	USH2A	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	23370	ARHGEF18	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5949	RBP3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6010	RHO	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6010	RHO	OMIM:613731
HP:0004328	Abnormal anterior eye segment morphology	10002	NR2E3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	10002	NR2E3	OMIM:268100
HP:0004328	Abnormal anterior eye segment morphology	9227	LRAT	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9227	LRAT	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	84140	FAM161A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	55812	SPATA7	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	55812	SPATA7	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	403	ARL3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5145	PDE6A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	10210	TOPORS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	8842	PROM1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9128	PRPF4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	145226	RDH12	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	145226	RDH12	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	50939	IMPG2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	8481	OFD1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	49855	SCAPER	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	2979	GUCA1B	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1259	CNGA1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1258	CNGB1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	60509	AGBL5	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5961	PRPH2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	388939	PCARE	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7439	BEST1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9785	DHX38	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9785	DHX38	OMIM:618220
HP:0004328	Abnormal anterior eye segment morphology	7287	TULP1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	7287	TULP1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	5995	RGR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9129	PRPF3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	55975	KLHL7	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3617	IMPG1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	94137	RP1L1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5158	PDE6B	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5158	PDE6B	OMIM:613801
HP:0004328	Abnormal anterior eye segment morphology	6102	RP2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6102	RP2	OMIM:312600
HP:0004328	Abnormal anterior eye segment morphology	55857	KIZ	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	64218	SEMA4A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4901	NRL	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	157657	CFAP418	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	157657	CFAP418	OMIM:614500
HP:0004328	Abnormal anterior eye segment morphology	10594	PRPF8	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6295	SAG	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	79947	DHDDS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	51422	PRKAG2	OMIM:261740
HP:0004328	Abnormal anterior eye segment morphology	4598	MVK	ORPHA:29
HP:0004328	Abnormal anterior eye segment morphology	4598	MVK	OMIM:610377
HP:0004328	Abnormal anterior eye segment morphology	160418	TMTC3	OMIM:617255
HP:0004328	Abnormal anterior eye segment morphology	79876	UBA5	OMIM:617133
HP:0004328	Abnormal anterior eye segment morphology	335	APOA1	OMIM:618463
HP:0004328	Abnormal anterior eye segment morphology	1798	DPAGT1	OMIM:608093
HP:0004328	Abnormal anterior eye segment morphology	5309	PITX3	OMIM:610623
HP:0004328	Abnormal anterior eye segment morphology	8675	STX16	ORPHA:94089
HP:0004328	Abnormal anterior eye segment morphology	10733	PLK4	OMIM:616171
HP:0004328	Abnormal anterior eye segment morphology	1294	COL7A1	OMIM:226600
HP:0004328	Abnormal anterior eye segment morphology	4312	MMP1	OMIM:226600
HP:0004328	Abnormal anterior eye segment morphology	54765	TRIM44	OMIM:617142
HP:0004328	Abnormal anterior eye segment morphology	54765	TRIM44	ORPHA:250923
HP:0004328	Abnormal anterior eye segment morphology	26610	ELP4	OMIM:617141
HP:0004328	Abnormal anterior eye segment morphology	5053	PAH	OMIM:261600
HP:0004328	Abnormal anterior eye segment morphology	5053	PAH	ORPHA:79254
HP:0004328	Abnormal anterior eye segment morphology	2033	EP300	ORPHA:353284
HP:0004328	Abnormal anterior eye segment morphology	2033	EP300	OMIM:180849
HP:0004328	Abnormal anterior eye segment morphology	2250	FGF5	OMIM:190330
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	OMIM:610756
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	OMIM:601675
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	OMIM:278730
HP:0004328	Abnormal anterior eye segment morphology	1760	DMPK	OMIM:160900
HP:0004328	Abnormal anterior eye segment morphology	1760	DMPK	ORPHA:589821
HP:0004328	Abnormal anterior eye segment morphology	4942	OAT	ORPHA:414
HP:0004328	Abnormal anterior eye segment morphology	147409	DSG4	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3892	KRT86	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3889	KRT83	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3887	KRT81	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	10059	DNM1L	ORPHA:98673
HP:0004328	Abnormal anterior eye segment morphology	4976	OPA1	ORPHA:98673
HP:0004328	Abnormal anterior eye segment morphology	28982	FLVCR1	ORPHA:88628
HP:0004328	Abnormal anterior eye segment morphology	28982	FLVCR1	OMIM:609033
HP:0004328	Abnormal anterior eye segment morphology	63925	ZNF335	OMIM:615095
HP:0004328	Abnormal anterior eye segment morphology	112939	NACC1	OMIM:617393
HP:0004328	Abnormal anterior eye segment morphology	92255	LMBRD2	OMIM:619694
HP:0004328	Abnormal anterior eye segment morphology	3756	KCNH1	OMIM:135500
HP:0004328	Abnormal anterior eye segment morphology	3756	KCNH1	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	3913	LAMB2	OMIM:609049
HP:0004328	Abnormal anterior eye segment morphology	1312	COMT	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	221037	JMJD1C	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	2812	GP1BB	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	6239	RREB1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	6899	TBX1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	7290	HIRA	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	9632	SEC24C	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	7353	UFD1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	421	ARVCF	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	55750	AGK	OMIM:212350
HP:0004328	Abnormal anterior eye segment morphology	55750	AGK	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	1009	CDH11	OMIM:211380
HP:0004328	Abnormal anterior eye segment morphology	8260	NAA10	ORPHA:568
HP:0004328	Abnormal anterior eye segment morphology	10483	SEC23B	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6390	SDHB	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6392	SDHD	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6391	SDHC	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	207	AKT1	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	207	AKT1	ORPHA:744
HP:0004328	Abnormal anterior eye segment morphology	207	AKT1	OMIM:615109
HP:0004328	Abnormal anterior eye segment morphology	205717	USF3	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	5290	PIK3CA	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	5290	PIK3CA	OMIM:615108
HP:0004328	Abnormal anterior eye segment morphology	100144748	KLLN	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	84314	TMEM107	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	26123	TCTN3	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79867	TCTN2	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	80776	B9D2	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79600	TCTN1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	OMIM:613826
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	79848	CSPP1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	51259	TMEM216	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57545	CC2D2A	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57545	CC2D2A	OMIM:612285
HP:0004328	Abnormal anterior eye segment morphology	79583	TMEM231	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	91147	TMEM67	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79770	TXNDC15	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	27077	B9D1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	23322	RPGRIP1L	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	54903	MKS1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	65062	TMEM237	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	2583	B4GALNT1	ORPHA:101006
HP:0004328	Abnormal anterior eye segment morphology	372	ARCN1	OMIM:617164
HP:0004328	Abnormal anterior eye segment morphology	11342	RNF13	OMIM:618379
HP:0004328	Abnormal anterior eye segment morphology	11342	RNF13	ORPHA:544503
HP:0004328	Abnormal anterior eye segment morphology	2071	ERCC3	OMIM:610651
HP:0004328	Abnormal anterior eye segment morphology	2071	ERCC3	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	OMIM:612713
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	ORPHA:324737
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	OMIM:612379
HP:0004328	Abnormal anterior eye segment morphology	4990	SIX6	OMIM:206900
HP:0004328	Abnormal anterior eye segment morphology	4990	SIX6	OMIM:212550
HP:0004328	Abnormal anterior eye segment morphology	6657	SOX2	OMIM:206900
HP:0004328	Abnormal anterior eye segment morphology	6297	SALL2	OMIM:216820
HP:0004328	Abnormal anterior eye segment morphology	64374	SIL1	ORPHA:559
HP:0004328	Abnormal anterior eye segment morphology	51763	INPP5K	ORPHA:559
HP:0004328	Abnormal anterior eye segment morphology	51763	INPP5K	OMIM:617404
HP:0004328	Abnormal anterior eye segment morphology	56244	BTNL2	ORPHA:797
HP:0004328	Abnormal anterior eye segment morphology	3123	HLA-DRB1	ORPHA:797
HP:0004328	Abnormal anterior eye segment morphology	6711	SPTBN1	OMIM:619475
HP:0004328	Abnormal anterior eye segment morphology	1285	COL4A3	OMIM:203780
HP:0004328	Abnormal anterior eye segment morphology	1286	COL4A4	OMIM:203780
HP:0004328	Abnormal anterior eye segment morphology	6513	SLC2A1	ORPHA:168577
HP:0004328	Abnormal anterior eye segment morphology	6513	SLC2A1	OMIM:608885
HP:0004328	Abnormal anterior eye segment morphology	4810	NHS	ORPHA:627
HP:0004328	Abnormal anterior eye segment morphology	526	ATP6V1B2	ORPHA:79500
HP:0004328	Abnormal anterior eye segment morphology	526	ATP6V1B2	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	57465	TBC1D24	ORPHA:79500
HP:0004328	Abnormal anterior eye segment morphology	57465	TBC1D24	OMIM:220500
HP:0004328	Abnormal anterior eye segment morphology	1412	CRYBA2	OMIM:115900
HP:0004328	Abnormal anterior eye segment morphology	8720	MBTPS1	OMIM:618392
HP:0004328	Abnormal anterior eye segment morphology	25839	COG4	OMIM:618150
HP:0004328	Abnormal anterior eye segment morphology	25839	COG4	ORPHA:85172
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	OMIM:300960
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	ORPHA:401973
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	ORPHA:35173
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	OMIM:302960
HP:0004328	Abnormal anterior eye segment morphology	84172	POLR1B	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	9533	POLR1C	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	51082	POLR1D	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	6949	TCOF1	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	8239	USP9X	OMIM:300968
HP:0004328	Abnormal anterior eye segment morphology	8239	USP9X	ORPHA:480880
HP:0004328	Abnormal anterior eye segment morphology	57477	SHROOM4	ORPHA:85288
HP:0004328	Abnormal anterior eye segment morphology	57704	GBA2	ORPHA:320391
HP:0004328	Abnormal anterior eye segment morphology	57704	GBA2	OMIM:614409
HP:0004328	Abnormal anterior eye segment morphology	6299	SALL1	ORPHA:857
HP:0004328	Abnormal anterior eye segment morphology	51339	DACT1	ORPHA:857
HP:0004328	Abnormal anterior eye segment morphology	3516	RBPJ	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	4851	NOTCH1	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	57514	ARHGAP31	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	57572	DOCK6	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	285203	EOGT	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	54567	DLL4	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	627	BDNF	ORPHA:893
HP:0004328	Abnormal anterior eye segment morphology	7490	WT1	ORPHA:893
HP:0004328	Abnormal anterior eye segment morphology	7490	WT1	OMIM:106210
HP:0004328	Abnormal anterior eye segment morphology	5264	PHYH	ORPHA:773
HP:0004328	Abnormal anterior eye segment morphology	5264	PHYH	OMIM:266500
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	ORPHA:773
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	OMIM:614879
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	OMIM:266500
HP:0004328	Abnormal anterior eye segment morphology	1499	CTNNB1	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	23554	TSPAN12	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	26137	ZBTB20	ORPHA:3042
HP:0004328	Abnormal anterior eye segment morphology	10084	PQBP1	OMIM:309500
HP:0004328	Abnormal anterior eye segment morphology	1315	COPB1	OMIM:619255
HP:0004328	Abnormal anterior eye segment morphology	284058	KANSL1	OMIM:610443
HP:0004328	Abnormal anterior eye segment morphology	5557	PRIM1	OMIM:620005
HP:0004328	Abnormal anterior eye segment morphology	2271	FH	ORPHA:523
HP:0004328	Abnormal anterior eye segment morphology	5076	PAX2	OMIM:120330
HP:0004328	Abnormal anterior eye segment morphology	64802	NMNAT1	OMIM:619260
HP:0004328	Abnormal anterior eye segment morphology	64802	NMNAT1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	55181	SMG8	OMIM:619268
HP:0004328	Abnormal anterior eye segment morphology	87178	PNPT1	OMIM:614932
HP:0004328	Abnormal anterior eye segment morphology	161742	SPRED1	ORPHA:137605
HP:0004328	Abnormal anterior eye segment morphology	1462	VCAN	OMIM:143200
HP:0004328	Abnormal anterior eye segment morphology	26146	TRAF3IP1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9657	IQCB1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9657	IQCB1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	10806	SDCCAG8	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	27130	INVS	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	4867	NPHP1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	261734	NPHP4	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	57728	WDR19	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	57728	WDR19	OMIM:614376
HP:0004328	Abnormal anterior eye segment morphology	27031	NPHP3	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	22897	CEP164	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9987	HNRNPDL	OMIM:609115
HP:0004328	Abnormal anterior eye segment morphology	80036	TRPM3	OMIM:620253
HP:0004328	Abnormal anterior eye segment morphology	6309	SC5D	ORPHA:46059
HP:0004328	Abnormal anterior eye segment morphology	6309	SC5D	OMIM:607330
HP:0004328	Abnormal anterior eye segment morphology	3560	IL2RB	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	79722	ANKRD55	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	26191	PTPN22	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	26191	PTPN22	ORPHA:3437
HP:0004328	Abnormal anterior eye segment morphology	919	CD247	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	3559	IL2RA	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	5771	PTPN2	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	83700	JAM3	OMIM:613730
HP:0004328	Abnormal anterior eye segment morphology	1593	CYP27A1	OMIM:213700
HP:0004328	Abnormal anterior eye segment morphology	80207	OPA3	OMIM:165300
HP:0004328	Abnormal anterior eye segment morphology	80207	OPA3	ORPHA:67036
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	OMIM:235730
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	ORPHA:261552
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	ORPHA:261537
HP:0004328	Abnormal anterior eye segment morphology	64324	NSD1	ORPHA:821
HP:0004328	Abnormal anterior eye segment morphology	29072	SETD2	ORPHA:821
HP:0004328	Abnormal anterior eye segment morphology	29072	SETD2	OMIM:620157
HP:0004328	Abnormal anterior eye segment morphology	29072	SETD2	OMIM:620155
HP:0004328	Abnormal anterior eye segment morphology	10297	APC2	ORPHA:821
HP:0004328	Abnormal anterior eye segment morphology	9401	RECQL4	OMIM:268400
HP:0004328	Abnormal anterior eye segment morphology	55112	DYNC2I1	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	57560	IFT80	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	57539	WDR35	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	79659	DYNC2H1	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	89891	DYNC2I2	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	8443	GNPAT	OMIM:222765
HP:0004328	Abnormal anterior eye segment morphology	9442	MED27	OMIM:619286
HP:0004328	Abnormal anterior eye segment morphology	23600	AMACR	ORPHA:79095
HP:0004328	Abnormal anterior eye segment morphology	23600	AMACR	OMIM:614307
HP:0004328	Abnormal anterior eye segment morphology	56623	INPP5E	ORPHA:75858
HP:0004328	Abnormal anterior eye segment morphology	56623	INPP5E	OMIM:610156
HP:0004328	Abnormal anterior eye segment morphology	1717	DHCR7	ORPHA:818
HP:0004328	Abnormal anterior eye segment morphology	1717	DHCR7	OMIM:270400
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	OMIM:212720
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:1387
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	OMIM:614225
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:401830
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	30061	SLC40A1	OMIM:606069
HP:0004328	Abnormal anterior eye segment morphology	4038	LRP4	ORPHA:3258
HP:0004328	Abnormal anterior eye segment morphology	324	APC	ORPHA:3258
HP:0004328	Abnormal anterior eye segment morphology	4072	EPCAM	ORPHA:92050
HP:0004328	Abnormal anterior eye segment morphology	105371045	PERCC1	ORPHA:92050
HP:0004328	Abnormal anterior eye segment morphology	1716	DGUOK	ORPHA:329314
HP:0004328	Abnormal anterior eye segment morphology	284252	KCTD1	ORPHA:2036
HP:0004328	Abnormal anterior eye segment morphology	284252	KCTD1	OMIM:181270
HP:0004328	Abnormal anterior eye segment morphology	5015	OTX2	OMIM:610125
HP:0004328	Abnormal anterior eye segment morphology	7555	CNBP	ORPHA:606
HP:0004328	Abnormal anterior eye segment morphology	55107	ANO1	OMIM:620045
HP:0004328	Abnormal anterior eye segment morphology	672	BRCA1	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	10459	MAD2L2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	7516	XRCC2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	29089	UBE2T	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	675	BRCA2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55120	FANCL	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2177	FANCD2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2175	FANCA	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2187	FANCB	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2176	FANCC	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2178	FANCE	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2188	FANCF	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2189	FANCG	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	5888	RAD51	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	5889	RAD51C	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55159	RFWD3	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	83990	BRIP1	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	57697	FANCM	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	79728	PALB2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	84464	SLX4	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55215	FANCI	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	7466	WFS1	OMIM:222300
HP:0004328	Abnormal anterior eye segment morphology	55697	VAC14	ORPHA:3472
HP:0004328	Abnormal anterior eye segment morphology	26090	ABHD12	OMIM:612674
HP:0004328	Abnormal anterior eye segment morphology	60	ACTB	OMIM:607371
HP:0004328	Abnormal anterior eye segment morphology	60	ACTB	ORPHA:79107
HP:0004328	Abnormal anterior eye segment morphology	55636	CHD7	OMIM:214800
HP:0004328	Abnormal anterior eye segment morphology	57167	SALL4	ORPHA:959
HP:0004328	Abnormal anterior eye segment morphology	57167	SALL4	OMIM:607323
HP:0004328	Abnormal anterior eye segment morphology	23424	TDRD7	OMIM:613887
HP:0004328	Abnormal anterior eye segment morphology	25942	SIN3A	OMIM:613406
HP:0004328	Abnormal anterior eye segment morphology	3782	KCNN3	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	4853	NOTCH2	ORPHA:955
HP:0004328	Abnormal anterior eye segment morphology	374393	FAM111B	OMIM:615704
HP:0004328	Abnormal anterior eye segment morphology	1174	AP1S1	OMIM:609313
HP:0004328	Abnormal anterior eye segment morphology	26227	PHGDH	OMIM:256520
HP:0004328	Abnormal anterior eye segment morphology	7840	ALMS1	ORPHA:64
HP:0004328	Abnormal anterior eye segment morphology	343035	RD3	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	10383	TUBB4B	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	85015	USP45	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	392255	GDF6	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	23746	AIPL1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	167691	LCA5	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	91754	NEK9	ORPHA:64754
HP:0004328	Abnormal anterior eye segment morphology	10908	PNPLA6	ORPHA:2377
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	OMIM:278780
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	55719	SLF2	OMIM:620184
HP:0004328	Abnormal anterior eye segment morphology	4036	LRP2	OMIM:222448
HP:0004328	Abnormal anterior eye segment morphology	402	ARL2	OMIM:619082
HP:0004328	Abnormal anterior eye segment morphology	4089	SMAD4	OMIM:139210
HP:0004328	Abnormal anterior eye segment morphology	4089	SMAD4	ORPHA:2588
HP:0004328	Abnormal anterior eye segment morphology	2934	GSN	ORPHA:85448
HP:0004328	Abnormal anterior eye segment morphology	81887	LAS1L	ORPHA:3459
HP:0004328	Abnormal anterior eye segment morphology	55869	HDAC8	ORPHA:3459
HP:0004328	Abnormal anterior eye segment morphology	55869	HDAC8	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	182	JAG1	OMIM:118450
HP:0004328	Abnormal anterior eye segment morphology	5336	PLCG2	OMIM:614878
HP:0004328	Abnormal anterior eye segment morphology	10165	SLC25A13	ORPHA:247598
HP:0004328	Abnormal anterior eye segment morphology	3178	HNRNPA1	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	7415	VCP	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	55129	ANO10	ORPHA:284289
HP:0004328	Abnormal anterior eye segment morphology	8573	CASK	ORPHA:163937
HP:0004328	Abnormal anterior eye segment morphology	4088	SMAD3	OMIM:613795
HP:0004328	Abnormal anterior eye segment morphology	50628	GEMIN4	OMIM:617913
HP:0004328	Abnormal anterior eye segment morphology	2961	GTF2E2	OMIM:616943
HP:0004328	Abnormal anterior eye segment morphology	81846	SBF2	ORPHA:99956
HP:0004328	Abnormal anterior eye segment morphology	3954	LETM1	OMIM:620089
HP:0004328	Abnormal anterior eye segment morphology	3166	HMX1	OMIM:612109
HP:0004328	Abnormal anterior eye segment morphology	2702	GJA5	OMIM:612474
HP:0004328	Abnormal anterior eye segment morphology	1297	COL9A1	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	1299	COL9A3	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	27241	BBS9	OMIM:615986
HP:0004328	Abnormal anterior eye segment morphology	7507	XPA	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	7508	XPC	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	1643	DDB2	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	1288	COL4A6	ORPHA:1018
HP:0004328	Abnormal anterior eye segment morphology	1287	COL4A5	ORPHA:1018
HP:0004328	Abnormal anterior eye segment morphology	9158	FIBP	ORPHA:500095
HP:0004328	Abnormal anterior eye segment morphology	9420	CYP7B1	ORPHA:100986
HP:0004328	Abnormal anterior eye segment morphology	9420	CYP7B1	OMIM:270800
HP:0004328	Abnormal anterior eye segment morphology	92482	BBIP1	OMIM:615995
HP:0004328	Abnormal anterior eye segment morphology	2584	GALK1	OMIM:230200
HP:0004328	Abnormal anterior eye segment morphology	2584	GALK1	ORPHA:79237
HP:0004328	Abnormal anterior eye segment morphology	10586	MAB21L2	OMIM:615877
HP:0004328	Abnormal anterior eye segment morphology	7473	WNT3	ORPHA:3301
HP:0004328	Abnormal anterior eye segment morphology	7473	WNT3	OMIM:273395
HP:0004328	Abnormal anterior eye segment morphology	340419	RSPO2	ORPHA:3301
HP:0004328	Abnormal anterior eye segment morphology	26007	TKFC	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	26007	TKFC	OMIM:618805
HP:0004328	Abnormal anterior eye segment morphology	4010	LMX1B	OMIM:161200
HP:0004328	Abnormal anterior eye segment morphology	83552	MFRP	OMIM:611040
HP:0004328	Abnormal anterior eye segment morphology	84162	BLTP1	OMIM:617822
HP:0004328	Abnormal anterior eye segment morphology	3313	HSPA9	OMIM:616854
HP:0004328	Abnormal anterior eye segment morphology	22880	MORC2	ORPHA:466768
HP:0004328	Abnormal anterior eye segment morphology	5831	PYCR1	OMIM:614438
HP:0004328	Abnormal anterior eye segment morphology	387700	SLC16A12	OMIM:612018
HP:0004328	Abnormal anterior eye segment morphology	10651	MTX2	ORPHA:90153
HP:0004328	Abnormal anterior eye segment morphology	8671	SLC4A4	OMIM:604278
HP:0004328	Abnormal anterior eye segment morphology	7283	TUBG1	OMIM:615412
HP:0004328	Abnormal anterior eye segment morphology	2067	ERCC1	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	5925	RB1	ORPHA:1587
HP:0004328	Abnormal anterior eye segment morphology	2248	FGF3	ORPHA:2791
HP:0004328	Abnormal anterior eye segment morphology	1063	CENPF	OMIM:243605
HP:0004328	Abnormal anterior eye segment morphology	10804	GJB6	OMIM:129500
HP:0004328	Abnormal anterior eye segment morphology	5745	PTH1R	ORPHA:50945
HP:0004328	Abnormal anterior eye segment morphology	338917	VSX2	OMIM:610092
HP:0004328	Abnormal anterior eye segment morphology	8985	PLOD3	OMIM:612394
HP:0004328	Abnormal anterior eye segment morphology	175	AGA	OMIM:208400
HP:0004328	Abnormal anterior eye segment morphology	80781	COL18A1	ORPHA:1571
HP:0004328	Abnormal anterior eye segment morphology	5062	PAK2	ORPHA:1571
HP:0004328	Abnormal anterior eye segment morphology	139285	AMER1	ORPHA:2780
HP:0004328	Abnormal anterior eye segment morphology	2313	FLI1	ORPHA:2308
HP:0004328	Abnormal anterior eye segment morphology	23476	BRD4	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	9126	SMC3	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	8243	SMC1A	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	25836	NIPBL	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	5885	RAD21	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	79955	PDZD7	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	4647	MYO7A	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	4647	MYO7A	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	25861	WHRN	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	84059	ADGRV1	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	6197	RPS6KA3	ORPHA:192
HP:0004328	Abnormal anterior eye segment morphology	9150	CTDP1	ORPHA:48431
HP:0004328	Abnormal anterior eye segment morphology	8092	ALX1	ORPHA:306542
HP:0004328	Abnormal anterior eye segment morphology	2296	FOXC1	ORPHA:250923
HP:0004328	Abnormal anterior eye segment morphology	22931	RAB18	OMIM:614222
HP:0004328	Abnormal anterior eye segment morphology	22931	RAB18	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	4329	ALDH6A1	OMIM:614105
HP:0004328	Abnormal anterior eye segment morphology	3704	ITPA	OMIM:616647
HP:0004328	Abnormal anterior eye segment morphology	4796	TONSL	ORPHA:93357
HP:0004328	Abnormal anterior eye segment morphology	28957	MRPS28	OMIM:618958
HP:0004328	Abnormal anterior eye segment morphology	54676	GTPBP2	OMIM:617988
HP:0004328	Abnormal anterior eye segment morphology	100506658	OCLN	OMIM:251290
HP:0004328	Abnormal anterior eye segment morphology	617	BCS1L	OMIM:124000
HP:0004328	Abnormal anterior eye segment morphology	22901	ARSG	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	4575	MT-TS2	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	3035	HARS1	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	84131	CEP78	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	10558	SPTLC1	OMIM:162400
HP:0004328	Abnormal anterior eye segment morphology	1376	CPT2	OMIM:608836
HP:0004328	Abnormal anterior eye segment morphology	652	BMP4	ORPHA:139471
HP:0004328	Abnormal anterior eye segment morphology	7518	XRCC4	OMIM:616541
HP:0004328	Abnormal anterior eye segment morphology	59341	TRPV4	ORPHA:2635
HP:0004328	Abnormal anterior eye segment morphology	387	RHOA	OMIM:618727
HP:0004328	Abnormal anterior eye segment morphology	4668	NAGA	ORPHA:79281
HP:0004328	Abnormal anterior eye segment morphology	1302	COL11A2	ORPHA:1427
HP:0004328	Abnormal anterior eye segment morphology	128637	TBC1D20	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	9130	FAM50A	OMIM:300261
HP:0004328	Abnormal anterior eye segment morphology	64072	CDH23	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	10083	USH1C	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	124590	USH1G	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	83715	ESPN	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	10518	CIB2	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	65217	PCDH15	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	80169	CTC1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	26277	TINF2	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	55651	NHP2	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	79650	USB1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	55135	WRAP53	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	51750	RTEL1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	4869	NPM1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7012	TERC	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	55505	NOP10	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	5073	PARN	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7015	TERT	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7298	TYMS	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	85378	TUBGCP6	OMIM:251270
HP:0004328	Abnormal anterior eye segment morphology	523	ATP6V1A	OMIM:617403
HP:0004328	Abnormal anterior eye segment morphology	27183	VPS4A	OMIM:619273
HP:0004328	Abnormal anterior eye segment morphology	406987	MIR204	OMIM:616722
HP:0004328	Abnormal anterior eye segment morphology	55654	TMEM127	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	5979	RET	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	4149	MAX	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	7428	VHL	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	1417	CRYBB3	OMIM:609741
HP:0004328	Abnormal anterior eye segment morphology	1411	CRYBA1	OMIM:600881
HP:0004328	Abnormal anterior eye segment morphology	23094	SIPA1L3	OMIM:616851
HP:0004328	Abnormal anterior eye segment morphology	3417	IDH1	ORPHA:99646
HP:0004328	Abnormal anterior eye segment morphology	4512	MT-CO1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4513	MT-CO2	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4514	MT-CO3	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4511	MT-TC	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4574	MT-TS1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4558	MT-TF	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4541	MT-ND6	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4540	MT-ND5	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4535	MT-ND1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4572	MT-TQ	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4577	MT-TV	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4578	MT-TW	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	57589	RIC1	OMIM:618761
HP:0004328	Abnormal anterior eye segment morphology	23511	NUP188	OMIM:618804
HP:0004328	Abnormal anterior eye segment morphology	4047	LSS	OMIM:616509
HP:0004328	Abnormal anterior eye segment morphology	20	ABCA2	OMIM:618808
HP:0004328	Abnormal anterior eye segment morphology	22872	SEC31A	OMIM:618651
HP:0004328	Abnormal anterior eye segment morphology	84668	HYCC1	OMIM:610532
HP:0004328	Abnormal anterior eye segment morphology	84668	HYCC1	ORPHA:85163
HP:0004328	Abnormal anterior eye segment morphology	1969	EPHA2	OMIM:116600
HP:0004328	Abnormal anterior eye segment morphology	5702	PSMC3	OMIM:619354
HP:0004328	Abnormal anterior eye segment morphology	389692	MAFA	OMIM:147630
HP:0004328	Abnormal anterior eye segment morphology	9894	TELO2	ORPHA:488642
HP:0004328	Abnormal anterior eye segment morphology	8419	BFSP2	OMIM:611597
HP:0004328	Abnormal anterior eye segment morphology	84992	PIGY	OMIM:616809
HP:0004328	Abnormal anterior eye segment morphology	23137	SMC5	OMIM:620185
HP:0004328	Abnormal anterior eye segment morphology	79813	EHMT1	ORPHA:261652
HP:0004328	Abnormal anterior eye segment morphology	58508	KMT2C	ORPHA:261652
HP:0004328	Abnormal anterior eye segment morphology	953	ENTPD1	OMIM:615683
HP:0004328	Abnormal anterior eye segment morphology	2651	GCNT2	OMIM:116700
HP:0004328	Abnormal anterior eye segment morphology	3739	KCNA4	OMIM:618284
HP:0004328	Abnormal anterior eye segment morphology	9197	SLC33A1	OMIM:614482
HP:0004328	Abnormal anterior eye segment morphology	5286	PIK3C2A	OMIM:618440
HP:0004328	Abnormal anterior eye segment morphology	5286	PIK3C2A	ORPHA:557003
HP:0004328	Abnormal anterior eye segment morphology	63901	FAM111A	OMIM:127000
HP:0004328	Abnormal anterior eye segment morphology	63901	FAM111A	ORPHA:93325
HP:0004328	Abnormal anterior eye segment morphology	833	CARS1	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	7737	RNF113A	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	136647	MPLKIP	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	6897	TARS1	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	6135	RPL11	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6138	RPL15	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6229	RPS24	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6125	RPL5	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6204	RPS10	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6224	RPS20	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6165	RPL35A	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	2623	GATA1	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6223	RPS19	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6232	RPS27	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6231	RPS26	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	11224	RPL35	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6160	RPL31	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6218	RPS17	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6201	RPS7	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6155	RPL27	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6154	RPL26	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6210	RPS15A	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	90121	TSR2	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6141	RPL18	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6235	RPS29	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6234	RPS28	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	51816	ADA2	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	1419	CRYGB	OMIM:615188
HP:0004328	Abnormal anterior eye segment morphology	7319	UBE2A	ORPHA:163956
HP:0004328	Abnormal anterior eye segment morphology	6307	MSMO1	OMIM:616834
HP:0004328	Abnormal anterior eye segment morphology	2108	ETFA	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	2109	ETFB	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	2110	ETFDH	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	64682	ANAPC1	ORPHA:221008
HP:0004328	Abnormal anterior eye segment morphology	51099	ABHD5	ORPHA:98907
HP:0004328	Abnormal anterior eye segment morphology	51099	ABHD5	OMIM:275630
HP:0004328	Abnormal anterior eye segment morphology	2202	EFEMP1	ORPHA:98977
HP:0004328	Abnormal anterior eye segment morphology	4653	MYOC	ORPHA:98977
HP:0004328	Abnormal anterior eye segment morphology	4629	MYH11	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7046	TGFBR1	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7048	TGFBR2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4015	LOX	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4087	SMAD2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7043	TGFB3	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	59	ACTA2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	5592	PRKG1	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4144	MAT2A	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	23493	HEY2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	8076	MFAP5	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4638	MYLK	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	1123	CHN1	ORPHA:233
HP:0004328	Abnormal anterior eye segment morphology	197257	LDHD	OMIM:245450
HP:0004328	Abnormal anterior eye segment morphology	1743	DLST	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	4191	MDH2	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	6389	SDHA	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	23095	KIF1B	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	8402	SLC25A11	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	54949	SDHAF2	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	4763	NF1	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	3708	ITPR1	ORPHA:1065
HP:0004328	Abnormal anterior eye segment morphology	3708	ITPR1	OMIM:206700
HP:0004328	Abnormal anterior eye segment morphology	1750	DLX6	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	7979	SEM1	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	8945	BTRC	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	58513	EPS15L1	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	6468	FBXW4	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	7480	WNT10B	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	1749	DLX5	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	5978	REST	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	129563	DIS3L2	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	10155	TRIM28	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	11281	POU6F2	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	2719	GPC3	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	283120	H19	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	151188	ARL6IP6	ORPHA:1556
HP:0004328	Abnormal anterior eye segment morphology	2530	FUT8	OMIM:618005
HP:0004328	Abnormal anterior eye segment morphology	54892	NCAPG2	OMIM:618460
HP:0004328	Abnormal anterior eye segment morphology	169792	GLIS3	OMIM:610199
HP:0004328	Abnormal anterior eye segment morphology	7291	TWIST1	OMIM:101400
HP:0004328	Abnormal anterior eye segment morphology	3480	IGF1R	OMIM:270450
HP:0004328	Abnormal anterior eye segment morphology	5422	POLA1	OMIM:301220
HP:0004328	Abnormal anterior eye segment morphology	667	DST	OMIM:614653
HP:0004328	Abnormal anterior eye segment morphology	85446	ZFHX2	OMIM:147430
HP:0004328	Abnormal anterior eye segment morphology	7025	NR2F1	ORPHA:401777
HP:0004328	Abnormal anterior eye segment morphology	162	AP1B1	OMIM:242150
HP:0004328	Abnormal anterior eye segment morphology	10681	GNB5	ORPHA:542306
HP:0004328	Abnormal anterior eye segment morphology	63916	ELMO2	ORPHA:3019
HP:0004328	Abnormal anterior eye segment morphology	5648	MASP1	OMIM:257920
HP:0004328	Abnormal anterior eye segment morphology	5648	MASP1	ORPHA:293843
HP:0004328	Abnormal anterior eye segment morphology	10847	SRCAP	ORPHA:2044
HP:0004328	Abnormal anterior eye segment morphology	78989	COLEC11	ORPHA:293843
HP:0004328	Abnormal anterior eye segment morphology	84720	PIGO	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	93210	PGAP3	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	284098	PIGW	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	27315	PGAP2	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	55650	PIGV	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	3476	IGBP1	OMIM:300472
HP:0004328	Abnormal anterior eye segment morphology	3476	IGBP1	ORPHA:52055
HP:0004328	Abnormal anterior eye segment morphology	22827	PUF60	ORPHA:508498
HP:0004328	Abnormal anterior eye segment morphology	23394	ADNP	ORPHA:404448
HP:0004328	Abnormal anterior eye segment morphology	4919	ROR1	OMIM:617654
HP:0004328	Abnormal anterior eye segment morphology	23126	POGZ	ORPHA:468678
HP:0004328	Abnormal anterior eye segment morphology	23126	POGZ	OMIM:616364
HP:0004328	Abnormal anterior eye segment morphology	116931	MED12L	OMIM:618872
HP:0004328	Abnormal anterior eye segment morphology	64412	GZF1	OMIM:617662
HP:0004328	Abnormal anterior eye segment morphology	153241	CEP120	ORPHA:220493
HP:0004328	Abnormal anterior eye segment morphology	153241	CEP120	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	95681	CEP41	ORPHA:220493
HP:0004328	Abnormal anterior eye segment morphology	95681	CEP41	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	3149	HMGB3	OMIM:300915
HP:0004328	Abnormal anterior eye segment morphology	26128	KIFBP	ORPHA:66629
HP:0004328	Abnormal anterior eye segment morphology	9723	SEMA3E	ORPHA:138
HP:0004328	Abnormal anterior eye segment morphology	28514	DLL1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2253	FGF8	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6496	SIX3	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6496	SIX3	OMIM:157170
HP:0004328	Abnormal anterior eye segment morphology	7050	TGIF1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	4838	NODAL	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6469	SHH	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6469	SHH	OMIM:611638
HP:0004328	Abnormal anterior eye segment morphology	7546	ZIC2	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2619	GAS1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	84976	DISP1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2736	GLI2	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	8928	FOXH1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	50937	CDON	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2263	FGFR2	ORPHA:207
HP:0004328	Abnormal anterior eye segment morphology	2077	ERF	ORPHA:207
HP:0004328	Abnormal anterior eye segment morphology	51524	TMEM138	ORPHA:2318
HP:0004328	Abnormal anterior eye segment morphology	23090	ZNF423	ORPHA:2318
HP:0004328	Abnormal anterior eye segment morphology	4854	NOTCH3	ORPHA:2789
HP:0004328	Abnormal anterior eye segment morphology	4591	TRIM37	OMIM:253250
HP:0004328	Abnormal anterior eye segment morphology	53834	FGFRL1	OMIM:194190
HP:0004328	Abnormal anterior eye segment morphology	65250	CPLANE1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	200894	ARL13B	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	9731	CEP104	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	219844	HYLS1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	23247	KATNIP	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	219854	TMEM218	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	9786	KIAA0586	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	10464	PIBF1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	80210	ARMC9	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	23116	TOGARAM1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	25776	CBY1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	157680	VPS13B	ORPHA:193
HP:0004328	Abnormal anterior eye segment morphology	6608	SMO	OMIM:601707
HP:0004328	Abnormal anterior eye segment morphology	6608	SMO	ORPHA:1553
HP:0004328	Abnormal anterior eye segment morphology	286	ANK1	ORPHA:251066
HP:0004328	Abnormal anterior eye segment morphology	29926	GMPPA	ORPHA:869
HP:0004328	Abnormal anterior eye segment morphology	8086	AAAS	ORPHA:869
HP:0004328	Abnormal anterior eye segment morphology	8085	KMT2D	OMIM:620186
HP:0004328	Abnormal anterior eye segment morphology	9573	GDF3	OMIM:613702
HP:0004328	Abnormal anterior eye segment morphology	9338	TCEAL1	OMIM:301094
HP:0004328	Abnormal anterior eye segment morphology	113246	C12orf57	OMIM:218340
HP:0004328	Abnormal anterior eye segment morphology	8777	MPDZ	OMIM:615219
HP:0004328	Abnormal anterior eye segment morphology	71	ACTG1	ORPHA:2995
HP:0004328	Abnormal anterior eye segment morphology	50945	TBX22	ORPHA:921
HP:0004328	Abnormal anterior eye segment morphology	9897	WASHC5	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	28952	CCDC22	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	10058	ABCB6	OMIM:614497
HP:0004328	Abnormal anterior eye segment morphology	8943	AP3D1	ORPHA:54
HP:0004328	Abnormal anterior eye segment morphology	4935	GPR143	ORPHA:54
HP:0004328	Abnormal anterior eye segment morphology	1281	COL3A1	ORPHA:286
HP:0004328	Abnormal anterior eye segment morphology	8929	PHOX2B	ORPHA:2151
HP:0004328	Abnormal anterior eye segment morphology	5376	PMP22	ORPHA:90658
HP:0004328	Abnormal anterior eye segment morphology	6786	STIM1	OMIM:160565
HP:0004328	Abnormal anterior eye segment morphology	4359	MPZ	ORPHA:101082
HP:0004328	Abnormal anterior eye segment morphology	9653	HS2ST1	OMIM:619194
HP:0004328	Abnormal anterior eye segment morphology	146167	SLC38A8	OMIM:609218
HP:0004328	Abnormal anterior eye segment morphology	9993	DGCR2	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	8220	ESS2	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	8214	DGCR6	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	54487	DGCR8	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	51132	RLIM	OMIM:300978
HP:0004328	Abnormal anterior eye segment morphology	5077	PAX3	OMIM:193500
HP:0004328	Abnormal anterior eye segment morphology	5077	PAX3	OMIM:148820
HP:0004328	Abnormal anterior eye segment morphology	7299	TYR	OMIM:203100
HP:0004328	Abnormal anterior eye segment morphology	4948	OCA2	OMIM:203200
HP:0004328	Abnormal anterior eye segment morphology	4948	OCA2	ORPHA:79432
HP:0004328	Abnormal anterior eye segment morphology	4157	MC1R	OMIM:203200
HP:0004328	Abnormal anterior eye segment morphology	4157	MC1R	ORPHA:79432
HP:0004328	Abnormal anterior eye segment morphology	8924	HERC2	OMIM:615516
HP:0004328	Abnormal anterior eye segment morphology	51151	SLC45A2	OMIM:606574
HP:0004328	Abnormal anterior eye segment morphology	6638	SNRPN	OMIM:105830
HP:0004328	Abnormal anterior eye segment morphology	7337	UBE3A	OMIM:105830
HP:0004328	Abnormal anterior eye segment morphology	8626	TP63	OMIM:604292
HP:0004328	Abnormal anterior eye segment morphology	5573	PRKAR1A	ORPHA:280651
HP:0004328	Abnormal anterior eye segment morphology	5573	PRKAR1A	OMIM:101800
HP:0004328	Abnormal anterior eye segment morphology	5144	PDE4D	ORPHA:280651
HP:0004328	Abnormal anterior eye segment morphology	5144	PDE4D	OMIM:614613
HP:0004328	Abnormal anterior eye segment morphology	5594	MAPK1	OMIM:619087
HP:0004328	Abnormal anterior eye segment morphology	6663	SOX10	OMIM:613266
HP:0004328	Abnormal anterior eye segment morphology	6663	SOX10	OMIM:611584
HP:0004328	Abnormal anterior eye segment morphology	1908	EDN3	OMIM:613265
HP:0004328	Abnormal anterior eye segment morphology	4254	KITLG	OMIM:619947
HP:0004328	Abnormal anterior eye segment morphology	1910	EDNRB	OMIM:277580
HP:0004328	Abnormal anterior eye segment morphology	6654	SOS1	OMIM:610733
HP:0004328	Abnormal anterior eye segment morphology	7306	TYRP1	ORPHA:79433
HP:0004328	Abnormal anterior eye segment morphology	29957	SLC25A24	ORPHA:2095
HP:0004328	Abnormal anterior eye segment morphology	30062	RAX	OMIM:611038
HP:0004328	Abnormal anterior eye segment morphology	10815	CPLX1	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	54872	PIGG	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	7469	NELFA	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	1487	CTBP1	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	7468	NSD2	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	91179	SCARF2	OMIM:600920
HP:0004328	Abnormal anterior eye segment morphology	55714	TENM3	OMIM:615145
HP:0004328	Abnormal anterior eye segment morphology	22884	WDR37	OMIM:618652
HP:0004328	Abnormal anterior eye segment morphology	1000	CDH2	OMIM:618929
HP:0004328	Abnormal anterior eye segment morphology	6890	TAP1	OMIM:604571
HP:0004328	Abnormal anterior eye segment morphology	6891	TAP2	OMIM:604571
HP:0004328	Abnormal anterior eye segment morphology	6892	TAPBP	OMIM:604571
HP:0004328	Abnormal anterior eye segment morphology	2201	FBN2	OMIM:121050
HP:0004328	Abnormal anterior eye segment morphology	2201	FBN2	ORPHA:115
HP:0004328	Abnormal anterior eye segment morphology	10157	AASS	OMIM:238700
HP:0004328	Abnormal anterior eye segment morphology	6821	SUOX	OMIM:272300
HP:0004328	Abnormal anterior eye segment morphology	55315	SLC29A3	OMIM:602782
HP:0004328	Abnormal anterior eye segment morphology	55315	SLC29A3	ORPHA:168569
HP:0004328	Abnormal anterior eye segment morphology	255738	PCSK9	OMIM:603776
HP:0004328	Abnormal anterior eye segment morphology	338	APOB	OMIM:144010
HP:0004328	Abnormal anterior eye segment morphology	336	APOA2	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	2053	EPHX2	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	10842	PPP1R17	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	2690	GHR	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	3949	LDLR	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	3990	LIPC	OMIM:614025
HP:0004328	Abnormal anterior eye segment morphology	348	APOE	ORPHA:412
HP:0004328	Abnormal anterior eye segment morphology	64241	ABCG8	OMIM:210250
HP:0004328	Abnormal anterior eye segment morphology	9469	CHST3	OMIM:245600
HP:0004328	Abnormal anterior eye segment morphology	26229	B3GAT3	OMIM:245600
HP:0004328	Abnormal anterior eye segment morphology	6736	SRY	ORPHA:1772
HP:0004328	Abnormal anterior eye segment morphology	10535	RNASEH2A	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	84153	RNASEH2C	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	25939	SAMHD1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	79621	RNASEH2B	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	103	ADAR	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	11277	TREX1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	100147744	RNU7-1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	134353	LSM11	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	64135	IFIH1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	124583	CANT1	OMIM:251450
HP:0004328	Abnormal anterior eye segment morphology	27235	COQ2	OMIM:146500
HP:0004328	Abnormal anterior eye segment morphology	3141	HLCS	ORPHA:79242
HP:0004328	Abnormal anterior eye segment morphology	6335	SCN9A	OMIM:133020
HP:0004328	Abnormal anterior eye segment morphology	54941	RNF125	OMIM:616260
HP:0004328	Abnormal anterior eye segment morphology	4081	MAB21L1	OMIM:618479
HP:0004328	Abnormal anterior eye segment morphology	3930	LBR	ORPHA:779
HP:0004328	Abnormal anterior eye segment morphology	6591	SNAI2	ORPHA:895
HP:0004328	Abnormal anterior eye segment morphology	6591	SNAI2	ORPHA:2884
HP:0004328	Abnormal anterior eye segment morphology	80153	EDC3	OMIM:616460
HP:0004328	Abnormal anterior eye segment morphology	3815	KIT	OMIM:172800
HP:0004328	Abnormal anterior eye segment morphology	3815	KIT	ORPHA:2884
HP:0004328	Abnormal anterior eye segment morphology	3257	HPS1	OMIM:203300
HP:0004328	Abnormal anterior eye segment morphology	8546	AP3B1	OMIM:608233
HP:0004328	Abnormal anterior eye segment morphology	1130	LYST	ORPHA:352723
HP:0004328	Abnormal anterior eye segment morphology	1130	LYST	OMIM:214500
HP:0004328	Abnormal anterior eye segment morphology	89781	HPS4	OMIM:614073
HP:0004328	Abnormal anterior eye segment morphology	26258	BLOC1S6	OMIM:614171
HP:0004328	Abnormal anterior eye segment morphology	79803	HPS6	OMIM:614075
HP:0004328	Abnormal anterior eye segment morphology	84062	DTNBP1	OMIM:614076
HP:0004328	Abnormal anterior eye segment morphology	9445	ITM2B	OMIM:117300
HP:0004328	Abnormal anterior eye segment morphology	4204	MECP2	OMIM:300055
HP:0004328	Abnormal anterior eye segment morphology	7053	TGM3	OMIM:617251
HP:0004328	Abnormal anterior eye segment morphology	221496	LEMD2	OMIM:212500
HP:0004328	Abnormal anterior eye segment morphology	81031	SLC2A10	ORPHA:3342
HP:0004328	Abnormal anterior eye segment morphology	63895	PIEZO2	OMIM:108145
HP:0004328	Abnormal anterior eye segment morphology	4166	CHST6	OMIM:217800
HP:0004328	Abnormal anterior eye segment morphology	4070	TACSTD2	OMIM:204870
HP:0004328	Abnormal anterior eye segment morphology	29914	UBIAD1	OMIM:121800
HP:0004328	Abnormal anterior eye segment morphology	1308	COL17A1	ORPHA:293381
HP:0004328	Abnormal anterior eye segment morphology	2652	OPN1MW	ORPHA:16
HP:0004328	Abnormal anterior eye segment morphology	5956	OPN1LW	ORPHA:16
HP:0004328	Abnormal anterior eye segment morphology	23404	EXOSC2	OMIM:617763
HP:0004328	Abnormal anterior eye segment morphology	3859	KRT12	OMIM:122100
HP:0004328	Abnormal anterior eye segment morphology	84627	ZNF469	ORPHA:90354
HP:0004328	Abnormal anterior eye segment morphology	406960	MIR184	OMIM:614303
HP:0004328	Abnormal anterior eye segment morphology	57551	TAOK1	OMIM:619575
HP:0004328	Abnormal anterior eye segment morphology	10992	SF3B2	OMIM:164210
HP:0004328	Abnormal anterior eye segment morphology	5959	RDH5	ORPHA:52427
HP:0004328	Abnormal anterior eye segment morphology	10484	SEC23A	OMIM:607812
HP:0004328	Abnormal anterior eye segment morphology	55733	HHAT	ORPHA:1422
HP:0004328	Abnormal anterior eye segment morphology	55733	HHAT	OMIM:600092
HP:0004328	Abnormal anterior eye segment morphology	23389	MED13L	ORPHA:369891
HP:0004328	Abnormal anterior eye segment morphology	1634	DCN	OMIM:610048
HP:0004328	Abnormal anterior eye segment morphology	4140	MARK3	OMIM:618283
HP:0004328	Abnormal anterior eye segment morphology	7042	TGFB2	OMIM:614816
HP:0004328	Abnormal anterior eye segment morphology	11107	PRDM5	OMIM:614170
HP:0004328	Abnormal anterior eye segment morphology	7681	MKRN3	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	3653	IPW	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:98754
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177904
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177901
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177910
HP:0004328	Abnormal anterior eye segment morphology	791114	PWRN1	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	100033413	SNORD116-1	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	145624	PWAR1	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	23742	NPAP1	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	338433	SNORD115-1	OMIM:176270
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:98754
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177904
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177901
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177910
HP:0004328	Abnormal anterior eye segment morphology	57194	ATP10A	ORPHA:411515
HP:0004328	Abnormal anterior eye segment morphology	4644	MYO5A	ORPHA:79476
HP:0004328	Abnormal anterior eye segment morphology	4644	MYO5A	ORPHA:79478
HP:0004328	Abnormal anterior eye segment morphology	5873	RAB27A	ORPHA:79477
HP:0004328	Abnormal anterior eye segment morphology	79083	MLPH	ORPHA:79478
HP:0004328	Abnormal anterior eye segment morphology	2588	GALNS	OMIM:253000
HP:0004328	Abnormal anterior eye segment morphology	2312	FLG	ORPHA:461
HP:0004328	Abnormal anterior eye segment morphology	84572	GNPTG	OMIM:252605
HP:0004328	Abnormal anterior eye segment morphology	3977	LIFR	OMIM:601559
HP:0004328	Abnormal anterior eye segment morphology	6399	TRAPPC2	OMIM:313400
HP:0004328	Abnormal anterior eye segment morphology	3982	LIM2	OMIM:615277
HP:0004328	Abnormal anterior eye segment morphology	146862	UNC45B	OMIM:616279
HP:0004328	Abnormal anterior eye segment morphology	4627	MYH9	ORPHA:182050
HP:0004328	Abnormal anterior eye segment morphology	4507	MTAP	OMIM:112250
HP:0004328	Abnormal anterior eye segment morphology	91851	CHRDL1	OMIM:309300
HP:0004328	Abnormal anterior eye segment morphology	5696	PSMB8	OMIM:256040
HP:0004328	Abnormal anterior eye segment morphology	285440	CYP4V2	OMIM:210370
HP:0004328	Abnormal anterior eye segment morphology	8518	ELP1	ORPHA:1764
HP:0004328	Abnormal anterior eye segment morphology	23556	PIGN	ORPHA:2059
HP:0004328	Abnormal anterior eye segment morphology	5832	ALDH18A1	OMIM:616603
HP:0004328	Abnormal anterior eye segment morphology	5832	ALDH18A1	ORPHA:90348
HP:0004328	Abnormal anterior eye segment morphology	145173	B3GLCT	ORPHA:709
HP:0004328	Abnormal anterior eye segment morphology	4693	NDP	OMIM:310600
HP:0004328	Abnormal anterior eye segment morphology	4693	NDP	ORPHA:91495
HP:0004328	Abnormal anterior eye segment morphology	4693	NDP	ORPHA:649
HP:0004328	Abnormal anterior eye segment morphology	220202	ATOH7	ORPHA:91495
HP:0004328	Abnormal anterior eye segment morphology	220202	ATOH7	OMIM:221900
HP:0004328	Abnormal anterior eye segment morphology	8322	FZD4	ORPHA:91495
HP:0004328	Abnormal anterior eye segment morphology	80144	FRAS1	OMIM:219000
HP:0004328	Abnormal anterior eye segment morphology	126792	B3GALT6	OMIM:609465
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:93399
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:812
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:93400
HP:0004328	Abnormal anterior eye segment morphology	411	ARSB	OMIM:253200
HP:0004328	Abnormal anterior eye segment morphology	7045	TGFBI	ORPHA:98964
HP:0004328	Abnormal anterior eye segment morphology	7045	TGFBI	OMIM:608470
HP:0004328	Abnormal anterior eye segment morphology	55593	OTUD5	OMIM:301056
HP:0004328	Abnormal anterior eye segment morphology	4125	MAN2B1	ORPHA:309282
HP:0004328	Abnormal anterior eye segment morphology	4125	MAN2B1	ORPHA:309288
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	ORPHA:293603
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	ORPHA:1490
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	54101	RIPK4	ORPHA:1234
HP:0004328	Abnormal anterior eye segment morphology	6905	TBCE	ORPHA:2323
HP:0004328	Abnormal anterior eye segment morphology	10413	YAP1	ORPHA:1473
HP:0004328	Abnormal anterior eye segment morphology	5080	PAX6	ORPHA:137902
HP:0004328	Abnormal anterior eye segment morphology	5080	PAX6	OMIM:120200
HP:0004328	Abnormal anterior eye segment morphology	4952	OCRL	ORPHA:534
HP:0004328	Abnormal anterior eye segment morphology	29954	POMT2	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	29954	POMT2	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	9215	LARGE1	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	9215	LARGE1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	79147	FKRP	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	79147	FKRP	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	79147	FKRP	OMIM:613153
HP:0004328	Abnormal anterior eye segment morphology	10585	POMT1	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	10585	POMT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	2218	FKTN	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	2218	FKTN	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	84892	POMGNT2	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	148789	B3GALNT2	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1282	COL4A1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1282	COL4A1	OMIM:175780
HP:0004328	Abnormal anterior eye segment morphology	729920	CRPPA	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	10329	RXYLT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1605	DAG1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	11041	B4GAT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	84197	POMK	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	55624	POMGNT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	427	ASAH1	ORPHA:333
HP:0004328	Abnormal anterior eye segment morphology	5980	REV3L	ORPHA:570
HP:0004328	Abnormal anterior eye segment morphology	23129	PLXND1	ORPHA:570
HP:0004328	Abnormal anterior eye segment morphology	51360	MBTPS2	ORPHA:2273
HP:0004328	Abnormal anterior eye segment morphology	10584	COLEC10	OMIM:248340
HP:0004328	Abnormal anterior eye segment morphology	1545	CYP1B1	OMIM:617315
HP:0004328	Abnormal anterior eye segment morphology	3423	IDS	ORPHA:217085
HP:0004328	Abnormal anterior eye segment morphology	3423	IDS	ORPHA:217093
HP:0004328	Abnormal anterior eye segment morphology	5155	PDGFB	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	9213	XPR1	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	5159	PDGFRB	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	5159	PDGFRB	OMIM:601812
HP:0004328	Abnormal anterior eye segment morphology	57462	MYORG	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	6575	SLC20A2	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	58494	JAM2	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	412	STS	ORPHA:281090
HP:0004328	Abnormal anterior eye segment morphology	27151	CPAMD8	OMIM:617319
HP:0004328	Abnormal anterior eye segment morphology	2260	FGFR1	ORPHA:2396
HP:0004328	Abnormal anterior eye segment morphology	3845	KRAS	ORPHA:2396
HP:0004328	Abnormal anterior eye segment morphology	3845	KRAS	OMIM:163200
HP:0004328	Abnormal anterior eye segment morphology	1147	CHUK	OMIM:619339
HP:0004328	Abnormal anterior eye segment morphology	2717	GLA	ORPHA:324
HP:0004328	Abnormal anterior eye segment morphology	4323	MMP14	OMIM:277950
HP:0004328	Abnormal anterior eye segment morphology	54539	NDUFB11	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	1349	COX7B	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	3052	HCCS	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	6768	ST14	OMIM:602400
HP:0004328	Abnormal anterior eye segment morphology	6898	TAT	ORPHA:28378
HP:0004328	Abnormal anterior eye segment morphology	9184	BUB3	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	699	BUB1	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	9702	CEP57	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	9319	TRIP13	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	701	BUB1B	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	4053	LTBP2	OMIM:613086
HP:0004328	Abnormal anterior eye segment morphology	2720	GLB1	OMIM:253010
HP:0004328	Abnormal anterior eye segment morphology	4041	LRP5	ORPHA:2788
HP:0004328	Abnormal anterior eye segment morphology	1301	COL11A1	ORPHA:90654
HP:0004328	Abnormal anterior eye segment morphology	93627	TBCK	ORPHA:488632
HP:0004328	Abnormal anterior eye segment morphology	2301	FOXE3	OMIM:610256
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607014
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607016
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607015
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93474
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93473
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93476
HP:0004328	Abnormal anterior eye segment morphology	2697	GJA1	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	2707	GJB3	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	2531	KDSR	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	127534	GJB4	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	9487	PIGL	ORPHA:3474
HP:0004328	Abnormal anterior eye segment morphology	11081	KERA	OMIM:217300
HP:0004328	Abnormal anterior eye segment morphology	5476	CTSA	ORPHA:351
HP:0004328	Abnormal anterior eye segment morphology	55768	NGLY1	OMIM:615273
HP:0004328	Abnormal anterior eye segment morphology	64840	PORCN	ORPHA:2092
HP:0004328	Abnormal anterior eye segment morphology	1296	COL8A2	OMIM:609140
HP:0004328	Abnormal anterior eye segment morphology	1296	COL8A2	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	1296	COL8A2	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	4519	MT-CYB	ORPHA:137675
HP:0004328	Abnormal anterior eye segment morphology	6804	STX1A	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	7461	CLIP2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	84277	DNAJC30	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	8468	FKBP6	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	5982	RFC2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	2969	GTF2I	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	3984	LIMK1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	9569	GTF2IRD1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	155382	VPS37D	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	155368	METTL27	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	114049	BUD23	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	7458	EIF4H	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	84163	GTF2IRD2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	9275	BCL7B	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	26608	TBL2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	653361	NCF1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	135886	TMEM270	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	51085	MLXIPL	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	9031	BAZ1B	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	2006	ELN	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	2006	ELN	ORPHA:90348
HP:0004328	Abnormal anterior eye segment morphology	4893	NRAS	OMIM:163200
HP:0004328	Abnormal anterior eye segment morphology	3265	HRAS	OMIM:163200
HP:0004328	Abnormal anterior eye segment morphology	1859	DYRK1A	ORPHA:464311
HP:0004328	Abnormal anterior eye segment morphology	2517	FUCA1	ORPHA:349
HP:0004328	Abnormal anterior eye segment morphology	285362	SUMF1	OMIM:272200
HP:0004328	Abnormal anterior eye segment morphology	285362	SUMF1	ORPHA:585
HP:0004328	Abnormal anterior eye segment morphology	8517	IKBKG	ORPHA:464
HP:0004328	Abnormal anterior eye segment morphology	2990	GUSB	ORPHA:584
HP:0004328	Abnormal anterior eye segment morphology	2990	GUSB	OMIM:253220
HP:0004328	Abnormal anterior eye segment morphology	4000	LMNA	ORPHA:740
HP:0004328	Abnormal anterior eye segment morphology	10269	ZMPSTE24	ORPHA:740
HP:0004328	Abnormal anterior eye segment morphology	55210	ATAD3A	ORPHA:496790
HP:0004328	Abnormal anterior eye segment morphology	55210	ATAD3A	OMIM:617183
HP:0004328	Abnormal anterior eye segment morphology	162514	TRPV3	OMIM:614594
HP:0004328	Abnormal anterior eye segment morphology	5130	PCYT1A	ORPHA:85167
HP:0004328	Abnormal anterior eye segment morphology	50485	SMARCAL1	ORPHA:1830
HP:0004328	Abnormal anterior eye segment morphology	6925	TCF4	OMIM:613267
HP:0004328	Abnormal anterior eye segment morphology	6925	TCF4	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	3931	LCAT	ORPHA:79292
HP:0004328	Abnormal anterior eye segment morphology	57192	MCOLN1	ORPHA:578
HP:0004328	Abnormal anterior eye segment morphology	57192	MCOLN1	OMIM:252650
HP:0004328	Abnormal anterior eye segment morphology	11128	POLR3A	ORPHA:3455
HP:0004328	Abnormal anterior eye segment morphology	19	ABCA1	ORPHA:31150
HP:0004328	Abnormal anterior eye segment morphology	7837	PXDN	OMIM:269400
HP:0004328	Abnormal anterior eye segment morphology	5295	PIK3R1	ORPHA:3163
HP:0004328	Abnormal anterior eye segment morphology	5331	PLCB3	OMIM:618961
HP:0004328	Abnormal anterior eye segment morphology	55612	FERMT1	ORPHA:2908
HP:0004328	Abnormal anterior eye segment morphology	2629	GBA1	ORPHA:2072
HP:0004328	Abnormal anterior eye segment morphology	10516	FBLN5	ORPHA:90348
HP:0004328	Abnormal anterior eye segment morphology	4094	MAF	OMIM:610202
HP:0004328	Abnormal anterior eye segment morphology	4094	MAF	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	9939	RBM8A	OMIM:274000
HP:0004328	Abnormal anterior eye segment morphology	4313	MMP2	OMIM:259600
HP:0004328	Abnormal anterior eye segment morphology	117581	TWIST2	ORPHA:920
HP:0004328	Abnormal anterior eye segment morphology	157570	ESCO2	OMIM:268300
HP:0004328	Abnormal anterior eye segment morphology	2317	FLNB	OMIM:150250
HP:0004328	Abnormal anterior eye segment morphology	3832	KIF11	OMIM:152950
HP:0004328	Abnormal anterior eye segment morphology	58495	OVOL2	OMIM:122000
HP:0004328	Abnormal anterior eye segment morphology	58495	OVOL2	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	2703	GJA8	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1413	CRYBA4	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1409	CRYAA	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1415	CRYBB2	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1414	CRYBB1	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1420	CRYGC	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1421	CRYGD	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	9935	MAFB	OMIM:166300
HP:0004328	Abnormal anterior eye segment morphology	55670	PEX26	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5824	PEX19	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5828	PEX2	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	8504	PEX3	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	8799	PEX11B	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	9409	PEX16	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5190	PEX6	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5830	PEX5	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5189	PEX1	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5193	PEX12	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5194	PEX13	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5195	PEX14	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5192	PEX10	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	3852	KRT5	ORPHA:79396
HP:0004328	Abnormal anterior eye segment morphology	3861	KRT14	ORPHA:79396
HP:0004328	Abnormal anterior eye segment morphology	6935	ZEB1	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	6935	ZEB1	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	30813	VSX1	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	79977	GRHL2	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	54808	DYM	ORPHA:239
HP:0004328	Abnormal anterior eye segment morphology	123624	AGBL1	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	200576	PIKFYVE	OMIM:121850
HP:0004328	Abnormal anterior eye segment morphology	84816	RTN4IP1	OMIM:616732
HP:0004328	Abnormal anterior eye segment morphology	92949	ADAMTSL1	ORPHA:521445
HP:0004328	Abnormal anterior eye segment morphology	7010	TEK	OMIM:600975
HP:0004328	Abnormal anterior eye segment morphology	283652	SLC24A5	ORPHA:370097
HP:0004328	Abnormal anterior eye segment morphology	8314	BAP1	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	57105	CYSLTR2	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	2776	GNAQ	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	2767	GNA11	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	23451	SF3B1	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	2956	MSH6	OMIM:619097
HP:0004328	Abnormal anterior eye segment morphology	1656	DDX6	OMIM:618653
HP:0004328	Abnormal anterior eye segment morphology	79628	SH3TC2	ORPHA:99949
HP:0004328	Abnormal anterior eye segment morphology	6909	TBX2	OMIM:618223
HP:0004328	Abnormal anterior eye segment morphology	3299	HSF4	OMIM:116800
HP:0004328	Abnormal anterior eye segment morphology	7431	VIM	OMIM:116300
HP:0004328	Abnormal anterior eye segment morphology	35	ACADS	OMIM:201470
HP:0004328	Abnormal anterior eye segment morphology	6655	SOS2	OMIM:616559
HP:0004328	Abnormal anterior eye segment morphology	8216	LZTR1	OMIM:616564
HP:0004328	Abnormal anterior eye segment morphology	2700	GJA3	OMIM:601885
HP:0004328	Abnormal anterior eye segment morphology	55229	PANK4	OMIM:619593
HP:0004328	Abnormal anterior eye segment morphology	92154	MTSS2	OMIM:620086
HP:0004328	Abnormal anterior eye segment morphology	2706	GJB2	ORPHA:477
HP:0004328	Abnormal anterior eye segment morphology	2706	GJB2	OMIM:602540
HP:0004328	Abnormal anterior eye segment morphology	22861	NLRP1	OMIM:617388
HP:0004328	Abnormal anterior eye segment morphology	5339	PLEC	OMIM:226670
HP:0004328	Abnormal anterior eye segment morphology	4337	MOCS1	OMIM:252150
HP:0004328	Abnormal anterior eye segment morphology	4338	MOCS2	OMIM:252160
HP:0004328	Abnormal anterior eye segment morphology	114902	C1QTNF5	ORPHA:67042
HP:0004328	Abnormal anterior eye segment morphology	444	ASPH	OMIM:601552
HP:0004328	Abnormal anterior eye segment morphology	4016	LOXL1	OMIM:177650
HP:0004328	Abnormal anterior eye segment morphology	170691	ADAMTS17	OMIM:613195
HP:0004328	Abnormal anterior eye segment morphology	59335	PRDM12	OMIM:616488
HP:0004328	Abnormal anterior eye segment morphology	4358	MPV17	OMIM:256810
HP:0004328	Abnormal anterior eye segment morphology	7389	UROD	ORPHA:95159
HP:0004328	Abnormal anterior eye segment morphology	4547	MTTP	ORPHA:14
HP:0004328	Abnormal anterior eye segment morphology	4914	NTRK1	ORPHA:642
HP:0004328	Abnormal anterior eye segment morphology	4914	NTRK1	OMIM:256800
HP:0004328	Abnormal anterior eye segment morphology	2261	FGFR3	ORPHA:2363
HP:0004328	Abnormal anterior eye segment morphology	2255	FGF10	ORPHA:2363
HP:0004328	Abnormal anterior eye segment morphology	7390	UROS	ORPHA:79277
HP:0004328	Abnormal anterior eye segment morphology	63915	BLOC1S5	OMIM:619172
HP:0004328	Abnormal anterior eye segment morphology	11234	HPS5	OMIM:614074
HP:0004328	Abnormal anterior eye segment morphology	1638	DCT	OMIM:619165
HP:0004328	Abnormal anterior eye segment morphology	83938	LRMDA	OMIM:615179
HP:0004328	Abnormal anterior eye segment morphology	11152	WDR45	OMIM:615179
HP:0004328	Abnormal anterior eye segment morphology	710	SERPING1	ORPHA:100050
HP:0004328	Abnormal anterior eye segment morphology	2670	GFAP	OMIM:203450
HP:0004328	Abnormal anterior eye segment morphology	5950	RBP4	OMIM:616428
HP:0004328	Abnormal anterior eye segment morphology	5308	PITX2	ORPHA:708
HP:0004328	Abnormal anterior eye segment morphology	10935	PRDX3	OMIM:619871
HP:0004328	Abnormal anterior eye segment morphology	631	BFSP1	OMIM:611391
HP:0004328	Abnormal anterior eye segment morphology	4284	MIP	OMIM:615274
HP:0004328	Abnormal anterior eye segment morphology	128866	CHMP4B	OMIM:605387
HP:0004328	Abnormal anterior eye segment morphology	755	CFAP410	OMIM:617547
HP:0004328	Abnormal anterior eye segment morphology	10216	PRG4	ORPHA:2848
HP:0004328	Abnormal anterior eye segment morphology	79443	FYCO1	OMIM:610019
HP:0004328	Abnormal anterior eye segment morphology	4771	NF2	ORPHA:637
HP:0004328	Abnormal anterior eye segment morphology	4771	NF2	OMIM:101000
HP:0004328	Abnormal anterior eye segment morphology	1427	CRYGS	OMIM:116100
HP:0004328	Abnormal anterior eye segment morphology	113457	TUBA3D	OMIM:617928
HP:0004328	Abnormal anterior eye segment morphology	4921	DDR2	OMIM:618175
HP:0004328	Abnormal anterior eye segment morphology	23291	FBXW11	OMIM:618914
HP:0004328	Abnormal anterior eye segment morphology	10320	IKZF1	ORPHA:36426
HP:0004328	Abnormal anterior eye segment morphology	8218	CLTCL1	ORPHA:453510
HP:0004328	Abnormal anterior eye segment morphology	10653	SPINT2	OMIM:270420
HP:0004328	Abnormal anterior eye segment morphology	55630	SLC39A4	ORPHA:37
HP:0004328	Abnormal anterior eye segment morphology	242	ALOX12B	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	204219	CERS3	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	285848	PNPLA1	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	59344	ALOXE3	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	348938	NIPAL4	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	7051	TGM1	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	540	ATP7B	ORPHA:905
HP:0004328	Abnormal anterior eye segment morphology	540	ATP7B	OMIM:277900
HP:0004328	Abnormal anterior eye segment morphology	7407	VARS1	OMIM:617802
HP:0004328	Abnormal anterior eye segment morphology	1261	CNGA3	OMIM:216900
HP:0004328	Abnormal anterior eye segment morphology	7030	TFE3	OMIM:301066
HP:0004328	Abnormal anterior eye segment morphology	23162	MAPK8IP3	OMIM:618443
HP:0004328	Abnormal anterior eye segment morphology	1278	COL1A2	ORPHA:230851
HP:0004328	Abnormal anterior eye segment morphology	388552	BLOC1S3	OMIM:614077
HP:0004328	Abnormal anterior eye segment morphology	10093	ARPC4	OMIM:620141
HP:0004329	Abnormal posterior eye segment morphology	85300	ATCAY	OMIM:601238
HP:0004329	Abnormal posterior eye segment morphology	85300	ATCAY	ORPHA:94122
HP:0004329	Abnormal posterior eye segment morphology	611	OPN1SW	ORPHA:88629
HP:0004329	Abnormal posterior eye segment morphology	112802	KRT71	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	121391	KRT74	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	200879	LIPH	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	10161	LPAR6	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	147183	KRT25	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	5649	RELN	ORPHA:89844
HP:0004329	Abnormal posterior eye segment morphology	10300	KATNB1	ORPHA:89844
HP:0004329	Abnormal posterior eye segment morphology	65250	CPLANE1	OMIM:614615
HP:0004329	Abnormal posterior eye segment morphology	4123	MAN2C1	OMIM:619775
HP:0004329	Abnormal posterior eye segment morphology	9158	FIBP	ORPHA:500095
HP:0004329	Abnormal posterior eye segment morphology	9158	FIBP	OMIM:617107
HP:0004329	Abnormal posterior eye segment morphology	9487	PIGL	OMIM:280000
HP:0004329	Abnormal posterior eye segment morphology	9487	PIGL	ORPHA:3474
HP:0004329	Abnormal posterior eye segment morphology	2248	FGF3	ORPHA:2791
HP:0004329	Abnormal posterior eye segment morphology	57167	SALL4	OMIM:607323
HP:0004329	Abnormal posterior eye segment morphology	7020	TFAP2A	OMIM:113620
HP:0004329	Abnormal posterior eye segment morphology	26173	INTS1	OMIM:618571
HP:0004329	Abnormal posterior eye segment morphology	95681	CEP41	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	6297	SALL2	OMIM:216820
HP:0004329	Abnormal posterior eye segment morphology	3767	KCNJ11	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3767	KCNJ11	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	8462	KLF11	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	2645	GCK	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	2645	GCK	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	26060	APPL1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	640	BLK	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	1056	CEL	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	4760	NEUROD1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3651	PDX1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3651	PDX1	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	6833	ABCC8	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	6833	ABCC8	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	5078	PAX4	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3172	HNF4A	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	6927	HNF1A	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3630	INS	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3630	INS	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	1493	CTLA4	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	3115	HLA-DPB1	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	5657	PRTN3	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	3113	HLA-DPA1	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	3425	IDUA	ORPHA:93473
HP:0004329	Abnormal posterior eye segment morphology	5627	PROS1	ORPHA:743
HP:0004329	Abnormal posterior eye segment morphology	4556	MT-TE	ORPHA:225
HP:0004329	Abnormal posterior eye segment morphology	3043	HBB	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3043	HBB	OMIM:603903
HP:0004329	Abnormal posterior eye segment morphology	53335	BCL11A	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	10661	KLF1	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3047	HBG1	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3048	HBG2	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	1387	CREBBP	ORPHA:353281
HP:0004329	Abnormal posterior eye segment morphology	1019	CDK4	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	4255	MGMT	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	54386	TERF2IP	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	65057	ACD	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	1029	CDKN2A	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	7015	TERT	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	25913	POT1	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	1030	CDKN2B	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	51128	SAR1B	ORPHA:71
HP:0004329	Abnormal posterior eye segment morphology	6774	STAT3	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	3643	INSR	ORPHA:769
HP:0004329	Abnormal posterior eye segment morphology	3593	IL12B	ORPHA:3287
HP:0004329	Abnormal posterior eye segment morphology	6945	MLX	ORPHA:3287
HP:0004329	Abnormal posterior eye segment morphology	5727	PTCH1	ORPHA:77301
HP:0004329	Abnormal posterior eye segment morphology	641	BLM	ORPHA:125
HP:0004329	Abnormal posterior eye segment morphology	375056	MIA3	OMIM:619269
HP:0004329	Abnormal posterior eye segment morphology	9907	AP5Z1	ORPHA:306511
HP:0004329	Abnormal posterior eye segment morphology	9907	AP5Z1	OMIM:613647
HP:0004329	Abnormal posterior eye segment morphology	203068	TUBB	ORPHA:2505
HP:0004329	Abnormal posterior eye segment morphology	10982	MAPRE2	ORPHA:2505
HP:0004329	Abnormal posterior eye segment morphology	22954	TRIM32	OMIM:615988
HP:0004329	Abnormal posterior eye segment morphology	79158	GNPTAB	OMIM:252600
HP:0004329	Abnormal posterior eye segment morphology	65217	PCDH15	OMIM:601067
HP:0004329	Abnormal posterior eye segment morphology	65217	PCDH15	OMIM:602083
HP:0004329	Abnormal posterior eye segment morphology	64072	CDH23	OMIM:601067
HP:0004329	Abnormal posterior eye segment morphology	64072	CDH23	OMIM:601386
HP:0004329	Abnormal posterior eye segment morphology	261734	NPHP4	OMIM:606996
HP:0004329	Abnormal posterior eye segment morphology	25970	SH2B1	ORPHA:261222
HP:0004329	Abnormal posterior eye segment morphology	91452	ACBD5	OMIM:618863
HP:0004329	Abnormal posterior eye segment morphology	5949	RBP3	OMIM:615233
HP:0004329	Abnormal posterior eye segment morphology	5949	RBP3	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	583	BBS2	OMIM:616562
HP:0004329	Abnormal posterior eye segment morphology	583	BBS2	OMIM:615981
HP:0004329	Abnormal posterior eye segment morphology	4598	MVK	OMIM:260920
HP:0004329	Abnormal posterior eye segment morphology	2677	GGCX	ORPHA:436274
HP:0004329	Abnormal posterior eye segment morphology	6010	RHO	OMIM:613731
HP:0004329	Abnormal posterior eye segment morphology	755	CFAP410	OMIM:602271
HP:0004329	Abnormal posterior eye segment morphology	130557	ZNF513	OMIM:613617
HP:0004329	Abnormal posterior eye segment morphology	6094	ROM1	OMIM:608133
HP:0004329	Abnormal posterior eye segment morphology	6094	ROM1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	91147	TMEM67	OMIM:602152
HP:0004329	Abnormal posterior eye segment morphology	91147	TMEM67	ORPHA:140976
HP:0004329	Abnormal posterior eye segment morphology	91147	TMEM67	OMIM:615991
HP:0004329	Abnormal posterior eye segment morphology	23126	POGZ	ORPHA:468678
HP:0004329	Abnormal posterior eye segment morphology	23126	POGZ	OMIM:616364
HP:0004329	Abnormal posterior eye segment morphology	4535	MT-ND1	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4536	MT-ND2	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4537	MT-ND3	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4538	MT-ND4	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4567	MT-TL1	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4578	MT-TW	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4577	MT-TV	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4508	MT-ATP6	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4508	MT-ATP6	OMIM:551500
HP:0004329	Abnormal posterior eye segment morphology	4508	MT-ATP6	ORPHA:644
HP:0004329	Abnormal posterior eye segment morphology	4540	MT-ND5	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4541	MT-ND6	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4566	MT-TK	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	8842	PROM1	OMIM:612095
HP:0004329	Abnormal posterior eye segment morphology	6311	ATXN2	OMIM:183090
HP:0004329	Abnormal posterior eye segment morphology	24148	PRPF6	OMIM:613983
HP:0004329	Abnormal posterior eye segment morphology	92840	REEP6	OMIM:617304
HP:0004329	Abnormal posterior eye segment morphology	10461	MERTK	OMIM:613862
HP:0004329	Abnormal posterior eye segment morphology	79947	DHDDS	OMIM:613861
HP:0004329	Abnormal posterior eye segment morphology	9128	PRPF4	OMIM:615922
HP:0004329	Abnormal posterior eye segment morphology	57545	CC2D2A	OMIM:619845
HP:0004329	Abnormal posterior eye segment morphology	768206	PRCD	OMIM:610599
HP:0004329	Abnormal posterior eye segment morphology	84140	FAM161A	OMIM:606068
HP:0004329	Abnormal posterior eye segment morphology	23020	SNRNP200	OMIM:610359
HP:0004329	Abnormal posterior eye segment morphology	4646	MYO6	OMIM:607821
HP:0004329	Abnormal posterior eye segment morphology	7439	BEST1	OMIM:613194
HP:0004329	Abnormal posterior eye segment morphology	6103	RPGR	OMIM:300455
HP:0004329	Abnormal posterior eye segment morphology	6103	RPGR	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	6103	RPGR	OMIM:300029
HP:0004329	Abnormal posterior eye segment morphology	4901	NRL	OMIM:613750
HP:0004329	Abnormal posterior eye segment morphology	1259	CNGA1	OMIM:613756
HP:0004329	Abnormal posterior eye segment morphology	1259	CNGA1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	51109	RDH11	OMIM:616108
HP:0004329	Abnormal posterior eye segment morphology	51109	RDH11	ORPHA:436245
HP:0004329	Abnormal posterior eye segment morphology	84100	ARL6	OMIM:209900
HP:0004329	Abnormal posterior eye segment morphology	84100	ARL6	OMIM:600151
HP:0004329	Abnormal posterior eye segment morphology	84100	ARL6	OMIM:613575
HP:0004329	Abnormal posterior eye segment morphology	84100	ARL6	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	79140	CCDC28B	OMIM:209900
HP:0004329	Abnormal posterior eye segment morphology	582	BBS1	OMIM:209900
HP:0004329	Abnormal posterior eye segment morphology	6295	SAG	OMIM:613758
HP:0004329	Abnormal posterior eye segment morphology	6295	SAG	OMIM:620228
HP:0004329	Abnormal posterior eye segment morphology	6295	SAG	ORPHA:75382
HP:0004329	Abnormal posterior eye segment morphology	1509	CTSD	OMIM:610127
HP:0004329	Abnormal posterior eye segment morphology	6100	RP9	OMIM:180104
HP:0004329	Abnormal posterior eye segment morphology	3614	IMPDH1	OMIM:180105
HP:0004329	Abnormal posterior eye segment morphology	24	ABCA4	OMIM:601718
HP:0004329	Abnormal posterior eye segment morphology	26090	ABHD12	OMIM:612674
HP:0004329	Abnormal posterior eye segment morphology	10352	WARS2	ORPHA:572798
HP:0004329	Abnormal posterior eye segment morphology	10352	WARS2	OMIM:617710
HP:0004329	Abnormal posterior eye segment morphology	55012	PPP2R3C	OMIM:618419
HP:0004329	Abnormal posterior eye segment morphology	1201	CLN3	OMIM:204200
HP:0004329	Abnormal posterior eye segment morphology	1258	CNGB1	OMIM:613767
HP:0004329	Abnormal posterior eye segment morphology	5995	RGR	OMIM:613769
HP:0004329	Abnormal posterior eye segment morphology	5373	PMM2	OMIM:212065
HP:0004329	Abnormal posterior eye segment morphology	5373	PMM2	ORPHA:79318
HP:0004329	Abnormal posterior eye segment morphology	491	ATP2B2	OMIM:601386
HP:0004329	Abnormal posterior eye segment morphology	1798	DPAGT1	ORPHA:86309
HP:0004329	Abnormal posterior eye segment morphology	7401	CLRN1	OMIM:614180
HP:0004329	Abnormal posterior eye segment morphology	7401	CLRN1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	7401	CLRN1	OMIM:276902
HP:0004329	Abnormal posterior eye segment morphology	10594	PRPF8	OMIM:600059
HP:0004329	Abnormal posterior eye segment morphology	25794	FSCN2	OMIM:607921
HP:0004329	Abnormal posterior eye segment morphology	4117	MAK	OMIM:614181
HP:0004329	Abnormal posterior eye segment morphology	5190	PEX6	OMIM:614863
HP:0004329	Abnormal posterior eye segment morphology	5190	PEX6	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5828	PEX2	OMIM:614866
HP:0004329	Abnormal posterior eye segment morphology	5828	PEX2	OMIM:614867
HP:0004329	Abnormal posterior eye segment morphology	5828	PEX2	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	3098	HK1	OMIM:618547
HP:0004329	Abnormal posterior eye segment morphology	4191	MDH2	OMIM:617339
HP:0004329	Abnormal posterior eye segment morphology	6134	RPL10	ORPHA:459070
HP:0004329	Abnormal posterior eye segment morphology	6134	RPL10	OMIM:300998
HP:0004329	Abnormal posterior eye segment morphology	10518	CIB2	OMIM:614869
HP:0004329	Abnormal posterior eye segment morphology	6101	RP1	OMIM:180100
HP:0004329	Abnormal posterior eye segment morphology	124590	USH1G	OMIM:606943
HP:0004329	Abnormal posterior eye segment morphology	402	ARL2	OMIM:619082
HP:0004329	Abnormal posterior eye segment morphology	92211	CDHR1	OMIM:613660
HP:0004329	Abnormal posterior eye segment morphology	3420	IDH3B	OMIM:612572
HP:0004329	Abnormal posterior eye segment morphology	57709	SLC7A14	OMIM:615725
HP:0004329	Abnormal posterior eye segment morphology	388939	PCARE	OMIM:613428
HP:0004329	Abnormal posterior eye segment morphology	5191	PEX7	OMIM:614879
HP:0004329	Abnormal posterior eye segment morphology	5191	PEX7	OMIM:266500
HP:0004329	Abnormal posterior eye segment morphology	80025	PANK2	OMIM:607236
HP:0004329	Abnormal posterior eye segment morphology	80025	PANK2	ORPHA:216866
HP:0004329	Abnormal posterior eye segment morphology	7355	SLC35A2	OMIM:300896
HP:0004329	Abnormal posterior eye segment morphology	9319	TRIP13	OMIM:617598
HP:0004329	Abnormal posterior eye segment morphology	50484	RRM2B	OMIM:268315
HP:0004329	Abnormal posterior eye segment morphology	64218	SEMA4A	OMIM:610282
HP:0004329	Abnormal posterior eye segment morphology	64218	SEMA4A	OMIM:610283
HP:0004329	Abnormal posterior eye segment morphology	7867	MAPKAPK3	OMIM:617111
HP:0004329	Abnormal posterior eye segment morphology	6121	RPE65	OMIM:613794
HP:0004329	Abnormal posterior eye segment morphology	10002	NR2E3	OMIM:611131
HP:0004329	Abnormal posterior eye segment morphology	2625	GATA3	ORPHA:2237
HP:0004329	Abnormal posterior eye segment morphology	2779	GNAT1	OMIM:616389
HP:0004329	Abnormal posterior eye segment morphology	80173	IFT74	OMIM:617119
HP:0004329	Abnormal posterior eye segment morphology	29929	ALG6	ORPHA:79320
HP:0004329	Abnormal posterior eye segment morphology	3166	HMX1	OMIM:612109
HP:0004329	Abnormal posterior eye segment morphology	25981	DNAH1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	115948	ODAD3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54768	HYDIN	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	352909	DNAAF3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	27148	STK36	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	51314	NME8	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	92749	DRC1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54970	TTC12	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	152110	NEK10	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	8481	OFD1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	8481	OFD1	OMIM:300424
HP:0004329	Abnormal posterior eye segment morphology	8481	OFD1	OMIM:300804
HP:0004329	Abnormal posterior eye segment morphology	2302	FOXJ1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	221421	RSPH9	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	85478	CCDC65	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55036	CCDC40	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	51364	ZMYND10	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	64446	DNAI2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	6674	SPAG1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83544	DNAL1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	89765	RSPH1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83538	ODAD4	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	200373	CFAP221	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	374407	DNAJB13	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55172	DNAAF2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	161582	DNAAF4	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	2622	GAS8	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	23639	DNAAF11	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	27019	DNAI1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	345895	RSPH4A	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54919	DNAAF5	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	388389	CCDC103	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	93233	ODAD1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55130	ODAD2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	1767	DNAH5	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83861	RSPH3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	345643	MCIDAS	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	56683	CFAP298	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	79925	SPEF2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	10309	CCNO	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	115399	LRRC56	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	139212	DNAAF6	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	123872	DNAAF1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	85016	CFAP300	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	339829	CCDC39	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	8701	DNAH11	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	1770	DNAH9	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	246176	GAS2L2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	3329	HSPD1	ORPHA:100994
HP:0004329	Abnormal posterior eye segment morphology	3798	KIF5A	ORPHA:100991
HP:0004329	Abnormal posterior eye segment morphology	26160	IFT172	OMIM:616394
HP:0004329	Abnormal posterior eye segment morphology	26160	IFT172	OMIM:619471
HP:0004329	Abnormal posterior eye segment morphology	9742	IFT140	OMIM:266920
HP:0004329	Abnormal posterior eye segment morphology	25861	WHRN	OMIM:611383
HP:0004329	Abnormal posterior eye segment morphology	55212	BBS7	OMIM:615984
HP:0004329	Abnormal posterior eye segment morphology	123016	TTC8	OMIM:615985
HP:0004329	Abnormal posterior eye segment morphology	123016	TTC8	OMIM:613464
HP:0004329	Abnormal posterior eye segment morphology	585	BBS4	OMIM:615982
HP:0004329	Abnormal posterior eye segment morphology	129880	BBS5	OMIM:615983
HP:0004329	Abnormal posterior eye segment morphology	166379	BBS12	OMIM:615989
HP:0004329	Abnormal posterior eye segment morphology	27241	BBS9	OMIM:615986
HP:0004329	Abnormal posterior eye segment morphology	79738	BBS10	OMIM:615987
HP:0004329	Abnormal posterior eye segment morphology	7287	TULP1	OMIM:600132
HP:0004329	Abnormal posterior eye segment morphology	26121	PRPF31	OMIM:600138
HP:0004329	Abnormal posterior eye segment morphology	196	AHR	OMIM:618345
HP:0004329	Abnormal posterior eye segment morphology	80184	CEP290	OMIM:615991
HP:0004329	Abnormal posterior eye segment morphology	80184	CEP290	OMIM:610188
HP:0004329	Abnormal posterior eye segment morphology	80184	CEP290	OMIM:610189
HP:0004329	Abnormal posterior eye segment morphology	9785	DHX38	OMIM:618220
HP:0004329	Abnormal posterior eye segment morphology	54903	MKS1	OMIM:615990
HP:0004329	Abnormal posterior eye segment morphology	5193	PEX12	OMIM:266510
HP:0004329	Abnormal posterior eye segment morphology	5193	PEX12	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	92482	BBIP1	OMIM:615995
HP:0004329	Abnormal posterior eye segment morphology	89891	DYNC2I2	OMIM:615633
HP:0004329	Abnormal posterior eye segment morphology	11020	IFT27	OMIM:615996
HP:0004329	Abnormal posterior eye segment morphology	10806	SDCCAG8	OMIM:615993
HP:0004329	Abnormal posterior eye segment morphology	54585	LZTFL1	OMIM:615994
HP:0004329	Abnormal posterior eye segment morphology	23600	AMACR	OMIM:614307
HP:0004329	Abnormal posterior eye segment morphology	9227	LRAT	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	9227	LRAT	OMIM:613341
HP:0004329	Abnormal posterior eye segment morphology	5148	PDE6G	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	5148	PDE6G	OMIM:613582
HP:0004329	Abnormal posterior eye segment morphology	23746	AIPL1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	1406	CRX	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	5264	PHYH	OMIM:266500
HP:0004329	Abnormal posterior eye segment morphology	50939	IMPG2	OMIM:613581
HP:0004329	Abnormal posterior eye segment morphology	60509	AGBL5	OMIM:617023
HP:0004329	Abnormal posterior eye segment morphology	443	ASPA	ORPHA:314918
HP:0004329	Abnormal posterior eye segment morphology	346007	EYS	OMIM:602772
HP:0004329	Abnormal posterior eye segment morphology	4694	NDUFA1	OMIM:301020
HP:0004329	Abnormal posterior eye segment morphology	27235	COQ2	OMIM:607426
HP:0004329	Abnormal posterior eye segment morphology	28982	FLVCR1	ORPHA:88628
HP:0004329	Abnormal posterior eye segment morphology	28982	FLVCR1	OMIM:609033
HP:0004329	Abnormal posterior eye segment morphology	4704	NDUFA9	OMIM:618247
HP:0004329	Abnormal posterior eye segment morphology	5631	PRPS1	OMIM:311070
HP:0004329	Abnormal posterior eye segment morphology	8120	AP3B2	OMIM:617276
HP:0004329	Abnormal posterior eye segment morphology	55975	KLHL7	OMIM:612943
HP:0004329	Abnormal posterior eye segment morphology	55975	KLHL7	OMIM:617055
HP:0004329	Abnormal posterior eye segment morphology	26146	TRAF3IP1	OMIM:616629
HP:0004329	Abnormal posterior eye segment morphology	2232	FDXR	OMIM:617717
HP:0004329	Abnormal posterior eye segment morphology	6102	RP2	OMIM:312600
HP:0004329	Abnormal posterior eye segment morphology	4647	MYO7A	OMIM:276900
HP:0004329	Abnormal posterior eye segment morphology	10083	USH1C	OMIM:276900
HP:0004329	Abnormal posterior eye segment morphology	10083	USH1C	OMIM:276904
HP:0004329	Abnormal posterior eye segment morphology	4547	MTTP	ORPHA:14
HP:0004329	Abnormal posterior eye segment morphology	7399	USH2A	OMIM:276901
HP:0004329	Abnormal posterior eye segment morphology	7399	USH2A	OMIM:613809
HP:0004329	Abnormal posterior eye segment morphology	79955	PDZD7	OMIM:276901
HP:0004329	Abnormal posterior eye segment morphology	79955	PDZD7	OMIM:605472
HP:0004329	Abnormal posterior eye segment morphology	23418	CRB1	OMIM:600105
HP:0004329	Abnormal posterior eye segment morphology	55857	KIZ	OMIM:615780
HP:0004329	Abnormal posterior eye segment morphology	149461	CLDN19	OMIM:248190
HP:0004329	Abnormal posterior eye segment morphology	8195	MKKS	OMIM:605231
HP:0004329	Abnormal posterior eye segment morphology	5158	PDE6B	OMIM:613801
HP:0004329	Abnormal posterior eye segment morphology	3028	HSD17B10	ORPHA:391428
HP:0004329	Abnormal posterior eye segment morphology	84059	ADGRV1	OMIM:605472
HP:0004329	Abnormal posterior eye segment morphology	23568	ARL2BP	OMIM:615434
HP:0004329	Abnormal posterior eye segment morphology	9894	TELO2	ORPHA:488642
HP:0004329	Abnormal posterior eye segment morphology	338	APOB	OMIM:615558
HP:0004329	Abnormal posterior eye segment morphology	5145	PDE6A	OMIM:613810
HP:0004329	Abnormal posterior eye segment morphology	10283	CWC27	OMIM:250410
HP:0004329	Abnormal posterior eye segment morphology	10283	CWC27	ORPHA:166035
HP:0004329	Abnormal posterior eye segment morphology	6011	GRK1	ORPHA:75382
HP:0004329	Abnormal posterior eye segment morphology	9129	PRPF3	OMIM:601414
HP:0004329	Abnormal posterior eye segment morphology	5189	PEX1	OMIM:601539
HP:0004329	Abnormal posterior eye segment morphology	5189	PEX1	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	4751	NEK2	OMIM:615565
HP:0004329	Abnormal posterior eye segment morphology	9371	KIF3B	OMIM:618955
HP:0004329	Abnormal posterior eye segment morphology	617	BCS1L	OMIM:124000
HP:0004329	Abnormal posterior eye segment morphology	2979	GUCA1B	OMIM:613827
HP:0004329	Abnormal posterior eye segment morphology	9657	IQCB1	OMIM:609254
HP:0004329	Abnormal posterior eye segment morphology	55670	PEX26	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5824	PEX19	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	8504	PEX3	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	9409	PEX16	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	8799	PEX11B	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5830	PEX5	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5194	PEX13	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5195	PEX14	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	5192	PEX10	ORPHA:772
HP:0004329	Abnormal posterior eye segment morphology	51	ACOX1	OMIM:264470
HP:0004329	Abnormal posterior eye segment morphology	403	ARL3	OMIM:618161
HP:0004329	Abnormal posterior eye segment morphology	403	ARL3	OMIM:618173
HP:0004329	Abnormal posterior eye segment morphology	10210	TOPORS	OMIM:609923
HP:0004329	Abnormal posterior eye segment morphology	57728	WDR19	OMIM:616307
HP:0004329	Abnormal posterior eye segment morphology	57728	WDR19	OMIM:614378
HP:0004329	Abnormal posterior eye segment morphology	253827	MSRB3	OMIM:613718
HP:0004329	Abnormal posterior eye segment morphology	79644	SRD5A3	ORPHA:324737
HP:0004329	Abnormal posterior eye segment morphology	23404	EXOSC2	OMIM:617763
HP:0004329	Abnormal posterior eye segment morphology	375298	CERKL	OMIM:608380
HP:0004329	Abnormal posterior eye segment morphology	6399	TRAPPC2	ORPHA:93284
HP:0004329	Abnormal posterior eye segment morphology	286053	NSMCE2	OMIM:617253
HP:0004329	Abnormal posterior eye segment morphology	286053	NSMCE2	ORPHA:436182
HP:0004329	Abnormal posterior eye segment morphology	5351	PLOD1	OMIM:225400
HP:0004329	Abnormal posterior eye segment morphology	5351	PLOD1	ORPHA:1900
HP:0004329	Abnormal posterior eye segment morphology	1859	DYRK1A	ORPHA:268261
HP:0004329	Abnormal posterior eye segment morphology	1859	DYRK1A	ORPHA:464311
HP:0004329	Abnormal posterior eye segment morphology	2314	FLII	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	23096	IQSEC2	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	10743	RAI1	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	10743	RAI1	OMIM:182290
HP:0004329	Abnormal posterior eye segment morphology	10522	DEAF1	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	2200	FBN1	OMIM:154700
HP:0004329	Abnormal posterior eye segment morphology	2200	FBN1	ORPHA:2833
HP:0004329	Abnormal posterior eye segment morphology	113189	CHST14	ORPHA:2953
HP:0004329	Abnormal posterior eye segment morphology	113189	CHST14	OMIM:601776
HP:0004329	Abnormal posterior eye segment morphology	29940	DSE	ORPHA:2953
HP:0004329	Abnormal posterior eye segment morphology	91851	CHRDL1	OMIM:309300
HP:0004329	Abnormal posterior eye segment morphology	79087	ALG12	OMIM:607143
HP:0004329	Abnormal posterior eye segment morphology	79087	ALG12	ORPHA:79324
HP:0004329	Abnormal posterior eye segment morphology	92949	ADAMTSL1	ORPHA:521445
HP:0004329	Abnormal posterior eye segment morphology	54507	ADAMTSL4	OMIM:225200
HP:0004329	Abnormal posterior eye segment morphology	10526	IPO8	OMIM:619472
HP:0004329	Abnormal posterior eye segment morphology	4810	NHS	ORPHA:627
HP:0004329	Abnormal posterior eye segment morphology	7518	XRCC4	ORPHA:436182
HP:0004329	Abnormal posterior eye segment morphology	11107	PRDM5	ORPHA:90354
HP:0004329	Abnormal posterior eye segment morphology	84627	ZNF469	ORPHA:90354
HP:0004329	Abnormal posterior eye segment morphology	151188	ARL6IP6	ORPHA:1556
HP:0004329	Abnormal posterior eye segment morphology	4053	LTBP2	ORPHA:98976
HP:0004329	Abnormal posterior eye segment morphology	80036	TRPM3	OMIM:620253
HP:0004329	Abnormal posterior eye segment morphology	9488	PIGB	OMIM:618580
HP:0004329	Abnormal posterior eye segment morphology	2895	GRID2	OMIM:616204
HP:0004329	Abnormal posterior eye segment morphology	7167	TPI1	OMIM:615512
HP:0004329	Abnormal posterior eye segment morphology	83700	JAM3	OMIM:613730
HP:0004329	Abnormal posterior eye segment morphology	6809	STX3	OMIM:619446
HP:0004329	Abnormal posterior eye segment morphology	84816	RTN4IP1	OMIM:616732
HP:0004329	Abnormal posterior eye segment morphology	5010	CLDN11	OMIM:619328
HP:0004329	Abnormal posterior eye segment morphology	9179	AP4M1	OMIM:612936
HP:0004329	Abnormal posterior eye segment morphology	4718	NDUFC2	OMIM:619170
HP:0004329	Abnormal posterior eye segment morphology	84340	GFM2	ORPHA:565624
HP:0004329	Abnormal posterior eye segment morphology	64834	ELOVL1	OMIM:618527
HP:0004329	Abnormal posterior eye segment morphology	23327	NEDD4L	OMIM:617201
HP:0004329	Abnormal posterior eye segment morphology	8550	MAPKAPK5	OMIM:619869
HP:0004329	Abnormal posterior eye segment morphology	54664	TMEM106B	OMIM:617964
HP:0004329	Abnormal posterior eye segment morphology	149371	EXOC8	OMIM:619076
HP:0004329	Abnormal posterior eye segment morphology	1861	TOR1A	OMIM:618947
HP:0004329	Abnormal posterior eye segment morphology	90624	LYRM7	OMIM:615838
HP:0004329	Abnormal posterior eye segment morphology	55617	TASP1	OMIM:618950
HP:0004329	Abnormal posterior eye segment morphology	3187	HNRNPH1	OMIM:620083
HP:0004329	Abnormal posterior eye segment morphology	2055	CLN8	ORPHA:1947
HP:0004329	Abnormal posterior eye segment morphology	55181	SMG8	OMIM:619268
HP:0004329	Abnormal posterior eye segment morphology	55331	ACER3	OMIM:617762
HP:0004329	Abnormal posterior eye segment morphology	9181	ARHGEF2	OMIM:617523
HP:0004329	Abnormal posterior eye segment morphology	10681	GNB5	OMIM:617173
HP:0004329	Abnormal posterior eye segment morphology	10681	GNB5	ORPHA:542306
HP:0004329	Abnormal posterior eye segment morphology	54982	CLN6	OMIM:601780
HP:0004329	Abnormal posterior eye segment morphology	4081	MAB21L1	OMIM:618479
HP:0004329	Abnormal posterior eye segment morphology	1200	TPP1	OMIM:204500
HP:0004329	Abnormal posterior eye segment morphology	284086	NEK8	OMIM:613824
HP:0004329	Abnormal posterior eye segment morphology	4125	MAN2B1	OMIM:248500
HP:0004329	Abnormal posterior eye segment morphology	1203	CLN5	OMIM:256731
HP:0004329	Abnormal posterior eye segment morphology	1737	DLAT	ORPHA:79244
HP:0004329	Abnormal posterior eye segment morphology	10464	PIBF1	OMIM:617767
HP:0004329	Abnormal posterior eye segment morphology	80216	ALPK1	OMIM:614979
HP:0004329	Abnormal posterior eye segment morphology	27183	VPS4A	OMIM:619273
HP:0004329	Abnormal posterior eye segment morphology	55213	RCBTB1	OMIM:617175
HP:0004329	Abnormal posterior eye segment morphology	134218	DNAJC21	OMIM:617052
HP:0004329	Abnormal posterior eye segment morphology	4750	NEK1	OMIM:263520
HP:0004329	Abnormal posterior eye segment morphology	51524	TMEM138	OMIM:614465
HP:0004329	Abnormal posterior eye segment morphology	51524	TMEM138	ORPHA:2318
HP:0004329	Abnormal posterior eye segment morphology	286	ANK1	ORPHA:251066
HP:0004329	Abnormal posterior eye segment morphology	4036	LRP2	OMIM:222448
HP:0004329	Abnormal posterior eye segment morphology	4036	LRP2	ORPHA:2143
HP:0004329	Abnormal posterior eye segment morphology	219854	TMEM218	OMIM:619562
HP:0004329	Abnormal posterior eye segment morphology	92002	CCNQ	ORPHA:140952
HP:0004329	Abnormal posterior eye segment morphology	80210	ARMC9	OMIM:617622
HP:0004329	Abnormal posterior eye segment morphology	80055	PGAP1	OMIM:615802
HP:0004329	Abnormal posterior eye segment morphology	652	BMP4	ORPHA:139471
HP:0004329	Abnormal posterior eye segment morphology	652	BMP4	OMIM:607932
HP:0004329	Abnormal posterior eye segment morphology	5230	PGK1	OMIM:300653
HP:0004329	Abnormal posterior eye segment morphology	5230	PGK1	ORPHA:713
HP:0004329	Abnormal posterior eye segment morphology	23090	ZNF423	ORPHA:2318
HP:0004329	Abnormal posterior eye segment morphology	55764	IFT122	OMIM:218330
HP:0004329	Abnormal posterior eye segment morphology	57531	HACE1	ORPHA:464282
HP:0004329	Abnormal posterior eye segment morphology	57531	HACE1	OMIM:616756
HP:0004329	Abnormal posterior eye segment morphology	283987	HID1	OMIM:619983
HP:0004329	Abnormal posterior eye segment morphology	4921	DDR2	OMIM:618175
HP:0004329	Abnormal posterior eye segment morphology	9445	ITM2B	OMIM:616079
HP:0004329	Abnormal posterior eye segment morphology	1410	CRYAB	OMIM:613763
HP:0004329	Abnormal posterior eye segment morphology	6711	SPTBN1	OMIM:619475
HP:0004329	Abnormal posterior eye segment morphology	6469	SHH	OMIM:611638
HP:0004329	Abnormal posterior eye segment morphology	79759	ZNF668	OMIM:620194
HP:0004329	Abnormal posterior eye segment morphology	6299	SALL1	OMIM:107480
HP:0004329	Abnormal posterior eye segment morphology	6299	SALL1	ORPHA:857
HP:0004329	Abnormal posterior eye segment morphology	64412	GZF1	OMIM:617662
HP:0004329	Abnormal posterior eye segment morphology	3149	HMGB3	OMIM:300915
HP:0004329	Abnormal posterior eye segment morphology	51339	DACT1	ORPHA:857
HP:0004329	Abnormal posterior eye segment morphology	113246	C12orf57	OMIM:218340
HP:0004329	Abnormal posterior eye segment morphology	51322	WAC	ORPHA:284169
HP:0004329	Abnormal posterior eye segment morphology	57020	VPS35L	OMIM:619135
HP:0004329	Abnormal posterior eye segment morphology	6496	SIX3	OMIM:157170
HP:0004329	Abnormal posterior eye segment morphology	50945	TBX22	ORPHA:921
HP:0004329	Abnormal posterior eye segment morphology	2639	GCDH	ORPHA:25
HP:0004329	Abnormal posterior eye segment morphology	5551	PRF1	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	7012	TERC	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	51119	SBDS	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	4615	MYD88	ORPHA:33226
HP:0004329	Abnormal posterior eye segment morphology	1785	DNM2	OMIM:615368
HP:0004329	Abnormal posterior eye segment morphology	667	DST	OMIM:614653
HP:0004329	Abnormal posterior eye segment morphology	54892	NCAPG2	OMIM:618460
HP:0004329	Abnormal posterior eye segment morphology	246243	RNASEH1	ORPHA:329336
HP:0004329	Abnormal posterior eye segment morphology	1351	COX8A	OMIM:619059
HP:0004329	Abnormal posterior eye segment morphology	55154	MSTO1	OMIM:617675
HP:0004329	Abnormal posterior eye segment morphology	55154	MSTO1	ORPHA:502423
HP:0004329	Abnormal posterior eye segment morphology	80201	HKDC1	OMIM:619614
HP:0004329	Abnormal posterior eye segment morphology	80324	PUS1	OMIM:600462
HP:0004329	Abnormal posterior eye segment morphology	857	CAV1	OMIM:606721
HP:0004329	Abnormal posterior eye segment morphology	4591	TRIM37	OMIM:253250
HP:0004329	Abnormal posterior eye segment morphology	51057	WDPCP	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	84984	CEP19	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	81689	ISCA1	OMIM:617613
HP:0004329	Abnormal posterior eye segment morphology	3032	HADHB	ORPHA:746
HP:0004329	Abnormal posterior eye segment morphology	200894	ARL13B	OMIM:612291
HP:0004329	Abnormal posterior eye segment morphology	182	JAG1	OMIM:118450
HP:0004329	Abnormal posterior eye segment morphology	3033	HADH	ORPHA:71212
HP:0004329	Abnormal posterior eye segment morphology	2937	GSS	OMIM:266130
HP:0004329	Abnormal posterior eye segment morphology	6390	SDHB	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	6392	SDHD	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	644096	SDHAF1	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	5052	PRDX1	OMIM:277400
HP:0004329	Abnormal posterior eye segment morphology	2624	GATA2	ORPHA:3226
HP:0004329	Abnormal posterior eye segment morphology	9131	AIFM1	ORPHA:83629
HP:0004329	Abnormal posterior eye segment morphology	2187	FANCB	ORPHA:3412
HP:0004329	Abnormal posterior eye segment morphology	3476	IGBP1	OMIM:300472
HP:0004329	Abnormal posterior eye segment morphology	3476	IGBP1	ORPHA:52055
HP:0004329	Abnormal posterior eye segment morphology	4072	EPCAM	ORPHA:92050
HP:0004329	Abnormal posterior eye segment morphology	105371045	PERCC1	ORPHA:92050
HP:0004329	Abnormal posterior eye segment morphology	8260	NAA10	OMIM:309800
HP:0004329	Abnormal posterior eye segment morphology	8260	NAA10	ORPHA:568
HP:0004329	Abnormal posterior eye segment morphology	54880	BCOR	OMIM:309800
HP:0004329	Abnormal posterior eye segment morphology	54880	BCOR	ORPHA:568
HP:0004329	Abnormal posterior eye segment morphology	54496	PRMT7	OMIM:617157
HP:0004329	Abnormal posterior eye segment morphology	1663	DDX11	OMIM:613398
HP:0004329	Abnormal posterior eye segment morphology	55733	HHAT	OMIM:600092
HP:0004329	Abnormal posterior eye segment morphology	8085	KMT2D	OMIM:620186
HP:0004329	Abnormal posterior eye segment morphology	10653	SPINT2	OMIM:270420
HP:0004329	Abnormal posterior eye segment morphology	8295	TRRAP	OMIM:618454
HP:0004329	Abnormal posterior eye segment morphology	6608	SMO	ORPHA:1553
HP:0004329	Abnormal posterior eye segment morphology	83479	DDX59	OMIM:174300
HP:0004329	Abnormal posterior eye segment morphology	735	C9	OMIM:615591
HP:0004329	Abnormal posterior eye segment morphology	5654	HTRA1	OMIM:610149
HP:0004329	Abnormal posterior eye segment morphology	1471	CST3	OMIM:611953
HP:0004329	Abnormal posterior eye segment morphology	80208	SPG11	OMIM:604360
HP:0004329	Abnormal posterior eye segment morphology	427	ASAH1	ORPHA:333
HP:0004329	Abnormal posterior eye segment morphology	55129	ANO10	ORPHA:284289
HP:0004329	Abnormal posterior eye segment morphology	84131	CEP78	OMIM:617236
HP:0004329	Abnormal posterior eye segment morphology	404672	GTF2H5	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	833	CARS1	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	6897	TARS1	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	2961	GTF2E2	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	3980	LIG3	OMIM:619780
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	OMIM:182230
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	50801	KCNK4	OMIM:618381
HP:0004329	Abnormal posterior eye segment morphology	22827	PUF60	ORPHA:508498
HP:0004329	Abnormal posterior eye segment morphology	22827	PUF60	ORPHA:508488
HP:0004329	Abnormal posterior eye segment morphology	22827	PUF60	OMIM:615583
HP:0004329	Abnormal posterior eye segment morphology	10735	STAG2	OMIM:301043
HP:0004329	Abnormal posterior eye segment morphology	23259	DDHD2	OMIM:615033
HP:0004329	Abnormal posterior eye segment morphology	7737	RNF113A	OMIM:300953
HP:0004329	Abnormal posterior eye segment morphology	5626	PROP1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5626	PROP1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	89884	LHX4	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	89884	LHX4	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	8022	LHX3	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5449	POU1F1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5449	POU1F1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	775	CACNA1C	OMIM:620029
HP:0004329	Abnormal posterior eye segment morphology	84282	RNF135	ORPHA:137634
HP:0004329	Abnormal posterior eye segment morphology	1788	DNMT3A	OMIM:615879
HP:0004329	Abnormal posterior eye segment morphology	51807	TUBA8	ORPHA:250972
HP:0004329	Abnormal posterior eye segment morphology	54820	NDE1	ORPHA:2177
HP:0004329	Abnormal posterior eye segment morphology	8854	ALDH1A2	OMIM:620025
HP:0004329	Abnormal posterior eye segment morphology	8405	SPOP	OMIM:618828
HP:0004329	Abnormal posterior eye segment morphology	415	ARSL	ORPHA:79345
HP:0004329	Abnormal posterior eye segment morphology	256297	PTF1A	OMIM:609069
HP:0004329	Abnormal posterior eye segment morphology	256297	PTF1A	ORPHA:65288
HP:0004329	Abnormal posterior eye segment morphology	55593	OTUD5	OMIM:301056
HP:0004329	Abnormal posterior eye segment morphology	3190	HNRNPK	ORPHA:453504
HP:0004329	Abnormal posterior eye segment morphology	3190	HNRNPK	ORPHA:352665
HP:0004329	Abnormal posterior eye segment morphology	2736	GLI2	OMIM:610829
HP:0004329	Abnormal posterior eye segment morphology	2736	GLI2	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	57459	GATAD2B	ORPHA:363686
HP:0004329	Abnormal posterior eye segment morphology	3170	FOXA2	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	8443	GNPAT	OMIM:222765
HP:0004329	Abnormal posterior eye segment morphology	2222	FDFT1	OMIM:618156
HP:0004329	Abnormal posterior eye segment morphology	29123	ANKRD11	ORPHA:261250
HP:0004329	Abnormal posterior eye segment morphology	55215	FANCI	OMIM:609053
HP:0004329	Abnormal posterior eye segment morphology	2893	GRIA4	OMIM:617864
HP:0004329	Abnormal posterior eye segment morphology	5500	PPP1CB	OMIM:617506
HP:0004329	Abnormal posterior eye segment morphology	29072	SETD2	OMIM:620157
HP:0004329	Abnormal posterior eye segment morphology	29072	SETD2	OMIM:620155
HP:0004329	Abnormal posterior eye segment morphology	57688	ZSWIM6	OMIM:603671
HP:0004329	Abnormal posterior eye segment morphology	23499	MACF1	ORPHA:572013
HP:0004329	Abnormal posterior eye segment morphology	387119	CEP85L	ORPHA:572013
HP:0004329	Abnormal posterior eye segment morphology	7846	TUBA1A	ORPHA:171680
HP:0004329	Abnormal posterior eye segment morphology	4208	MEF2C	ORPHA:228384
HP:0004329	Abnormal posterior eye segment morphology	51360	MBTPS2	ORPHA:85284
HP:0004329	Abnormal posterior eye segment morphology	9968	MED12	ORPHA:93932
HP:0004329	Abnormal posterior eye segment morphology	10381	TUBB3	ORPHA:300570
HP:0004329	Abnormal posterior eye segment morphology	9928	KIF14	OMIM:617914
HP:0004329	Abnormal posterior eye segment morphology	25930	PTPN23	OMIM:618890
HP:0004329	Abnormal posterior eye segment morphology	132158	GLYCTK	OMIM:220120
HP:0004329	Abnormal posterior eye segment morphology	7545	ZIC1	OMIM:618736
HP:0004329	Abnormal posterior eye segment morphology	5518	PPP2R1A	ORPHA:457284
HP:0004329	Abnormal posterior eye segment morphology	4747	NEFL	ORPHA:101085
HP:0004329	Abnormal posterior eye segment morphology	2260	FGFR1	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	128674	PROKR2	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	6658	SOX3	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	9915	ARNT2	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	64127	NOD2	ORPHA:90340
HP:0004329	Abnormal posterior eye segment morphology	4763	NF1	ORPHA:97685
HP:0004329	Abnormal posterior eye segment morphology	1188	CLCNKB	OMIM:607364
HP:0004329	Abnormal posterior eye segment morphology	5167	ENPP1	ORPHA:51608
HP:0004329	Abnormal posterior eye segment morphology	368	ABCC6	ORPHA:51608
HP:0004329	Abnormal posterior eye segment morphology	26191	PTPN22	ORPHA:397
HP:0004329	Abnormal posterior eye segment morphology	3106	HLA-B	ORPHA:397
HP:0004329	Abnormal posterior eye segment morphology	3123	HLA-DRB1	ORPHA:397
HP:0004329	Abnormal posterior eye segment morphology	8974	P4HA2	ORPHA:397
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	ORPHA:272
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	OMIM:236670
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	OMIM:253800
HP:0004329	Abnormal posterior eye segment morphology	4524	MTHFR	ORPHA:395
HP:0004329	Abnormal posterior eye segment morphology	55703	POLR3B	OMIM:614381
HP:0004329	Abnormal posterior eye segment morphology	55703	POLR3B	OMIM:607694
HP:0004329	Abnormal posterior eye segment morphology	10617	STAMBP	OMIM:614261
HP:0004329	Abnormal posterior eye segment morphology	4099	MAG	OMIM:616680
HP:0004329	Abnormal posterior eye segment morphology	51256	TBC1D7	OMIM:248000
HP:0004329	Abnormal posterior eye segment morphology	55823	VPS11	OMIM:616683
HP:0004329	Abnormal posterior eye segment morphology	55823	VPS11	ORPHA:466934
HP:0004329	Abnormal posterior eye segment morphology	23446	SLC44A1	OMIM:618868
HP:0004329	Abnormal posterior eye segment morphology	8518	ELP1	ORPHA:1764
HP:0004329	Abnormal posterior eye segment morphology	201595	STT3B	OMIM:615597
HP:0004329	Abnormal posterior eye segment morphology	201595	STT3B	ORPHA:370924
HP:0004329	Abnormal posterior eye segment morphology	10059	DNM1L	OMIM:614388
HP:0004329	Abnormal posterior eye segment morphology	10059	DNM1L	OMIM:610708
HP:0004329	Abnormal posterior eye segment morphology	10059	DNM1L	ORPHA:330050
HP:0004329	Abnormal posterior eye segment morphology	10059	DNM1L	ORPHA:98673
HP:0004329	Abnormal posterior eye segment morphology	4897	NRCAM	OMIM:619833
HP:0004329	Abnormal posterior eye segment morphology	2720	GLB1	OMIM:230600
HP:0004329	Abnormal posterior eye segment morphology	84334	COA8	ORPHA:436271
HP:0004329	Abnormal posterior eye segment morphology	1786	DNMT1	ORPHA:314404
HP:0004329	Abnormal posterior eye segment morphology	1786	DNMT1	OMIM:604121
HP:0004329	Abnormal posterior eye segment morphology	84942	WDR73	OMIM:251300
HP:0004329	Abnormal posterior eye segment morphology	84942	WDR73	ORPHA:83472
HP:0004329	Abnormal posterior eye segment morphology	1736	DKC1	OMIM:305000
HP:0004329	Abnormal posterior eye segment morphology	1161	ERCC8	ORPHA:90321
HP:0004329	Abnormal posterior eye segment morphology	1161	ERCC8	OMIM:216400
HP:0004329	Abnormal posterior eye segment morphology	6687	SPG7	ORPHA:99013
HP:0004329	Abnormal posterior eye segment morphology	6687	SPG7	OMIM:607259
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	ORPHA:99015
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	ORPHA:280234
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	OMIM:312080
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	OMIM:312920
HP:0004329	Abnormal posterior eye segment morphology	57165	GJC2	OMIM:608804
HP:0004329	Abnormal posterior eye segment morphology	8566	PDXK	OMIM:618511
HP:0004329	Abnormal posterior eye segment morphology	65993	MRPS34	OMIM:617664
HP:0004329	Abnormal posterior eye segment morphology	6536	SLC6A9	OMIM:617301
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	OMIM:616211
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	OMIM:614322
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	OMIM:616451
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	ORPHA:468661
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	OMIM:615330
HP:0004329	Abnormal posterior eye segment morphology	79639	TMEM53	OMIM:619727
HP:0004329	Abnormal posterior eye segment morphology	10730	YME1L1	OMIM:617302
HP:0004329	Abnormal posterior eye segment morphology	55768	NGLY1	ORPHA:404454
HP:0004329	Abnormal posterior eye segment morphology	55636	CHD7	ORPHA:138
HP:0004329	Abnormal posterior eye segment morphology	9723	SEMA3E	ORPHA:138
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	ORPHA:1513
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	OMIM:122860
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	ORPHA:3152
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	OMIM:269500
HP:0004329	Abnormal posterior eye segment morphology	6660	SOX5	ORPHA:313892
HP:0004329	Abnormal posterior eye segment morphology	6660	SOX5	OMIM:616803
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309271
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309263
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	OMIM:250100
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309256
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309271
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309263
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	OMIM:611721
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309256
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:206436
HP:0004329	Abnormal posterior eye segment morphology	7345	UCHL1	OMIM:615491
HP:0004329	Abnormal posterior eye segment morphology	7345	UCHL1	OMIM:620221
HP:0004329	Abnormal posterior eye segment morphology	284058	KANSL1	ORPHA:363958
HP:0004329	Abnormal posterior eye segment morphology	284058	KANSL1	ORPHA:363965
HP:0004329	Abnormal posterior eye segment morphology	5105	PCK1	OMIM:261680
HP:0004329	Abnormal posterior eye segment morphology	7994	KAT6A	ORPHA:457193
HP:0004329	Abnormal posterior eye segment morphology	7994	KAT6A	OMIM:616268
HP:0004329	Abnormal posterior eye segment morphology	9326	ZNHIT3	ORPHA:2836
HP:0004329	Abnormal posterior eye segment morphology	9326	ZNHIT3	OMIM:260565
HP:0004329	Abnormal posterior eye segment morphology	547	KIF1A	ORPHA:2836
HP:0004329	Abnormal posterior eye segment morphology	547	KIF1A	OMIM:614255
HP:0004329	Abnormal posterior eye segment morphology	55681	SCYL2	OMIM:618766
HP:0004329	Abnormal posterior eye segment morphology	2697	GJA1	ORPHA:2710
HP:0004329	Abnormal posterior eye segment morphology	2697	GJA1	OMIM:218400
HP:0004329	Abnormal posterior eye segment morphology	9401	RECQL4	OMIM:218600
HP:0004329	Abnormal posterior eye segment morphology	55149	MTPAP	ORPHA:254343
HP:0004329	Abnormal posterior eye segment morphology	55149	MTPAP	OMIM:613672
HP:0004329	Abnormal posterior eye segment morphology	171023	ASXL1	ORPHA:97297
HP:0004329	Abnormal posterior eye segment morphology	10484	SEC23A	OMIM:607812
HP:0004329	Abnormal posterior eye segment morphology	10815	CPLX1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	54872	PIGG	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	7469	NELFA	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	1487	CTBP1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	3954	LETM1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	3954	LETM1	OMIM:620089
HP:0004329	Abnormal posterior eye segment morphology	7468	NSD2	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	22872	SEC31A	OMIM:618651
HP:0004329	Abnormal posterior eye segment morphology	83636	C19orf12	OMIM:614298
HP:0004329	Abnormal posterior eye segment morphology	83636	C19orf12	OMIM:615043
HP:0004329	Abnormal posterior eye segment morphology	5833	PCYT2	OMIM:618770
HP:0004329	Abnormal posterior eye segment morphology	7466	WFS1	OMIM:614296
HP:0004329	Abnormal posterior eye segment morphology	7466	WFS1	OMIM:222300
HP:0004329	Abnormal posterior eye segment morphology	7466	WFS1	ORPHA:3463
HP:0004329	Abnormal posterior eye segment morphology	7466	WFS1	ORPHA:411590
HP:0004329	Abnormal posterior eye segment morphology	388962	BOLA3	OMIM:614299
HP:0004329	Abnormal posterior eye segment morphology	284184	NDUFAF8	OMIM:618776
HP:0004329	Abnormal posterior eye segment morphology	79731	NARS2	OMIM:616239
HP:0004329	Abnormal posterior eye segment morphology	89910	UBE3B	ORPHA:2707
HP:0004329	Abnormal posterior eye segment morphology	3737	KCNA2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1759	DNM1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1759	DNM1	OMIM:620352
HP:0004329	Abnormal posterior eye segment morphology	523	ATP6V1A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	523	ATP6V1A	OMIM:618012
HP:0004329	Abnormal posterior eye segment morphology	10991	SLC38A3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	51343	FZR1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	22906	TRAK1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2566	GABRG2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1917	EEF1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2561	GABRB2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	8831	SYNGAP1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	7532	YWHAG	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	79876	UBA5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6328	SCN3A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2558	GABRA5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	781	CACNA2D1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2906	GRIN2D	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	10659	CELF2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	774	CACNA1B	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1213	CLTC	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	23334	SZT2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	51412	ACTL6B	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	348980	HCN1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6506	SLC1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	8867	SYNJ1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2258	FGF13	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	477	ATP1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	3745	KCNB1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	284111	SLC13A5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	25977	NECAP1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	16	AARS1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6334	SCN8A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	22866	CNKSR2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	9568	GABBR2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2555	GABRA2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	55152	DALRD3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	773	CACNA1A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	26999	CYFIP2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	4915	NTRK2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	4915	NTRK2	OMIM:617830
HP:0004329	Abnormal posterior eye segment morphology	25973	PARS2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	25973	PARS2	OMIM:618437
HP:0004329	Abnormal posterior eye segment morphology	23097	CDK19	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	5530	PPP3CA	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	478	ATP1A3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	478	ATP1A3	OMIM:601338
HP:0004329	Abnormal posterior eye segment morphology	478	ATP1A3	ORPHA:1171
HP:0004329	Abnormal posterior eye segment morphology	6905	TBCE	OMIM:617207
HP:0004329	Abnormal posterior eye segment morphology	6905	TBCE	ORPHA:496756
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	OMIM:601152
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	OMIM:609260
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	OMIM:617087
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	ORPHA:99947
HP:0004329	Abnormal posterior eye segment morphology	673	BRAF	ORPHA:54595
HP:0004329	Abnormal posterior eye segment morphology	673	BRAF	ORPHA:1340
HP:0004329	Abnormal posterior eye segment morphology	8241	RBM10	OMIM:311900
HP:0004329	Abnormal posterior eye segment morphology	8241	RBM10	ORPHA:2886
HP:0004329	Abnormal posterior eye segment morphology	1182	CLCN3	OMIM:619512
HP:0004329	Abnormal posterior eye segment morphology	91574	MTRFR	OMIM:615035
HP:0004329	Abnormal posterior eye segment morphology	91574	MTRFR	ORPHA:320375
HP:0004329	Abnormal posterior eye segment morphology	91574	MTRFR	ORPHA:254930
HP:0004329	Abnormal posterior eye segment morphology	91574	MTRFR	OMIM:613559
HP:0004329	Abnormal posterior eye segment morphology	27125	AFF4	OMIM:616368
HP:0004329	Abnormal posterior eye segment morphology	92609	TIMM50	OMIM:617698
HP:0004329	Abnormal posterior eye segment morphology	92609	TIMM50	ORPHA:505216
HP:0004329	Abnormal posterior eye segment morphology	51692	CPSF3	OMIM:619876
HP:0004329	Abnormal posterior eye segment morphology	150468	CKAP2L	OMIM:272440
HP:0004329	Abnormal posterior eye segment morphology	150468	CKAP2L	ORPHA:3255
HP:0004329	Abnormal posterior eye segment morphology	5590	PRKCZ	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	2563	GABRD	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	23013	SPEN	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	8510	MMP23B	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	7798	LUZP1	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	6497	SKI	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	10630	PDPN	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	3339	HSPG2	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	10277	UBE4B	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	8514	KCNAB2	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	473	RERE	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	473	RERE	ORPHA:494344
HP:0004329	Abnormal posterior eye segment morphology	473	RERE	OMIM:616975
HP:0004329	Abnormal posterior eye segment morphology	63976	PRDM16	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	54897	CASZ1	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	4720	NDUFS2	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	4720	NDUFS2	OMIM:618228
HP:0004329	Abnormal posterior eye segment morphology	4720	NDUFS2	ORPHA:70474
HP:0004329	Abnormal posterior eye segment morphology	4720	NDUFS2	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4512	MT-CO1	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	4512	MT-CO1	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4514	MT-CO3	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	4514	MT-CO3	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4514	MT-CO3	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4519	MT-CYB	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	4519	MT-CYB	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4519	MT-CYB	ORPHA:137675
HP:0004329	Abnormal posterior eye segment morphology	4539	MT-ND4L	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	4539	MT-ND4L	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	148789	B3GALNT2	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	148789	B3GALNT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	29925	GMPPB	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	29925	GMPPB	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	79147	FKRP	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	79147	FKRP	OMIM:236670
HP:0004329	Abnormal posterior eye segment morphology	79147	FKRP	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	79147	FKRP	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	9215	LARGE1	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	9215	LARGE1	OMIM:236670
HP:0004329	Abnormal posterior eye segment morphology	9215	LARGE1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	9215	LARGE1	OMIM:613154
HP:0004329	Abnormal posterior eye segment morphology	29954	POMT2	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	29954	POMT2	OMIM:236670
HP:0004329	Abnormal posterior eye segment morphology	29954	POMT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	29954	POMT2	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	10585	POMT1	ORPHA:588
HP:0004329	Abnormal posterior eye segment morphology	10585	POMT1	OMIM:236670
HP:0004329	Abnormal posterior eye segment morphology	10585	POMT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	10585	POMT1	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	55210	ATAD3A	ORPHA:496790
HP:0004329	Abnormal posterior eye segment morphology	55210	ATAD3A	OMIM:617183
HP:0004329	Abnormal posterior eye segment morphology	4644	MYO5A	ORPHA:33445
HP:0004329	Abnormal posterior eye segment morphology	8818	DPM2	OMIM:615042
HP:0004329	Abnormal posterior eye segment morphology	8818	DPM2	ORPHA:329178
HP:0004329	Abnormal posterior eye segment morphology	122961	ISCA2	OMIM:616370
HP:0004329	Abnormal posterior eye segment morphology	8733	GPAA1	ORPHA:529665
HP:0004329	Abnormal posterior eye segment morphology	8733	GPAA1	OMIM:617810
HP:0004329	Abnormal posterior eye segment morphology	4849	CNOT3	OMIM:618672
HP:0004329	Abnormal posterior eye segment morphology	56947	MFF	ORPHA:485421
HP:0004329	Abnormal posterior eye segment morphology	56947	MFF	OMIM:617086
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	OMIM:123790
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	ORPHA:794
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	OMIM:123500
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	ORPHA:207
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	ORPHA:87
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	ORPHA:1555
HP:0004329	Abnormal posterior eye segment morphology	9562	MINPP1	OMIM:619527
HP:0004329	Abnormal posterior eye segment morphology	9562	MINPP1	ORPHA:284339
HP:0004329	Abnormal posterior eye segment morphology	7841	MOGS	ORPHA:79330
HP:0004329	Abnormal posterior eye segment morphology	7841	MOGS	OMIM:606056
HP:0004329	Abnormal posterior eye segment morphology	56652	TWNK	OMIM:271245
HP:0004329	Abnormal posterior eye segment morphology	56652	TWNK	ORPHA:1186
HP:0004329	Abnormal posterior eye segment morphology	2271	FH	OMIM:606812
HP:0004329	Abnormal posterior eye segment morphology	5981	RFC1	ORPHA:504476
HP:0004329	Abnormal posterior eye segment morphology	197258	FCSK	OMIM:618324
HP:0004329	Abnormal posterior eye segment morphology	2395	FXN	OMIM:229300
HP:0004329	Abnormal posterior eye segment morphology	2395	FXN	ORPHA:95
HP:0004329	Abnormal posterior eye segment morphology	10463	SLC30A9	OMIM:617595
HP:0004329	Abnormal posterior eye segment morphology	125988	MICOS13	OMIM:618329
HP:0004329	Abnormal posterior eye segment morphology	84168	ANTXR1	OMIM:230740
HP:0004329	Abnormal posterior eye segment morphology	84168	ANTXR1	ORPHA:2067
HP:0004329	Abnormal posterior eye segment morphology	25836	NIPBL	OMIM:122470
HP:0004329	Abnormal posterior eye segment morphology	9725	TMEM63A	OMIM:618688
HP:0004329	Abnormal posterior eye segment morphology	8813	DPM1	ORPHA:79322
HP:0004329	Abnormal posterior eye segment morphology	8813	DPM1	OMIM:608799
HP:0004329	Abnormal posterior eye segment morphology	9526	MPDU1	ORPHA:79323
HP:0004329	Abnormal posterior eye segment morphology	9526	MPDU1	OMIM:609180
HP:0004329	Abnormal posterior eye segment morphology	79053	ALG8	ORPHA:79325
HP:0004329	Abnormal posterior eye segment morphology	1967	EIF2B1	OMIM:603896
HP:0004329	Abnormal posterior eye segment morphology	10195	ALG3	OMIM:601110
HP:0004329	Abnormal posterior eye segment morphology	10533	ATG7	OMIM:619422
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	OMIM:619303
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	OMIM:616505
HP:0004329	Abnormal posterior eye segment morphology	58497	PRUNE1	OMIM:617481
HP:0004329	Abnormal posterior eye segment morphology	58497	PRUNE1	ORPHA:544469
HP:0004329	Abnormal posterior eye segment morphology	55656	INTS8	OMIM:618572
HP:0004329	Abnormal posterior eye segment morphology	11232	POLG2	OMIM:619425
HP:0004329	Abnormal posterior eye segment morphology	8905	AP1S2	OMIM:304340
HP:0004329	Abnormal posterior eye segment morphology	4594	MMUT	ORPHA:79312
HP:0004329	Abnormal posterior eye segment morphology	4594	MMUT	ORPHA:289916
HP:0004329	Abnormal posterior eye segment morphology	7291	TWIST1	ORPHA:794
HP:0004329	Abnormal posterior eye segment morphology	2261	FGFR3	ORPHA:794
HP:0004329	Abnormal posterior eye segment morphology	2261	FGFR3	ORPHA:93262
HP:0004329	Abnormal posterior eye segment morphology	4558	MT-TF	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4558	MT-TF	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4549	MT-RNR1	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4574	MT-TS1	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4574	MT-TS1	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4574	MT-TS1	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	4575	MT-TS2	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4575	MT-TS2	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4571	MT-TP	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4572	MT-TQ	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4572	MT-TQ	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4564	MT-TH	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4564	MT-TH	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	3912	LAMB1	OMIM:615191
HP:0004329	Abnormal posterior eye segment morphology	3912	LAMB1	ORPHA:352682
HP:0004329	Abnormal posterior eye segment morphology	4513	MT-CO2	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	10785	WDR4	OMIM:618346
HP:0004329	Abnormal posterior eye segment morphology	50	ACO2	OMIM:616289
HP:0004329	Abnormal posterior eye segment morphology	50	ACO2	OMIM:614559
HP:0004329	Abnormal posterior eye segment morphology	160418	TMTC3	OMIM:617255
HP:0004329	Abnormal posterior eye segment morphology	51728	POLR3K	OMIM:619310
HP:0004329	Abnormal posterior eye segment morphology	4719	NDUFS1	OMIM:618226
HP:0004329	Abnormal posterior eye segment morphology	4719	NDUFS1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4729	NDUFV2	OMIM:618229
HP:0004329	Abnormal posterior eye segment morphology	4729	NDUFV2	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	2767	GNA11	ORPHA:428
HP:0004329	Abnormal posterior eye segment morphology	846	CASR	ORPHA:428
HP:0004329	Abnormal posterior eye segment morphology	23345	SYNE1	OMIM:610743
HP:0004329	Abnormal posterior eye segment morphology	5428	POLG	OMIM:258450
HP:0004329	Abnormal posterior eye segment morphology	5428	POLG	ORPHA:254886
HP:0004329	Abnormal posterior eye segment morphology	10102	TSFM	OMIM:610505
HP:0004329	Abnormal posterior eye segment morphology	128869	PIGU	OMIM:618590
HP:0004329	Abnormal posterior eye segment morphology	29887	SNX10	OMIM:615085
HP:0004329	Abnormal posterior eye segment morphology	91942	NDUFAF2	OMIM:618233
HP:0004329	Abnormal posterior eye segment morphology	91942	NDUFAF2	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	7084	TK2	ORPHA:254886
HP:0004329	Abnormal posterior eye segment morphology	81790	RNF170	OMIM:619686
HP:0004329	Abnormal posterior eye segment morphology	23102	TBC1D2B	OMIM:619323
HP:0004329	Abnormal posterior eye segment morphology	1436	CSF1R	OMIM:618476
HP:0004329	Abnormal posterior eye segment morphology	26610	ELP4	OMIM:617141
HP:0004329	Abnormal posterior eye segment morphology	79868	ALG13	OMIM:300884
HP:0004329	Abnormal posterior eye segment morphology	126328	NDUFA11	OMIM:618236
HP:0004329	Abnormal posterior eye segment morphology	6651	SON	OMIM:617140
HP:0004329	Abnormal posterior eye segment morphology	6651	SON	ORPHA:500150
HP:0004329	Abnormal posterior eye segment morphology	10978	CLP1	ORPHA:411493
HP:0004329	Abnormal posterior eye segment morphology	9342	SNAP29	ORPHA:66631
HP:0004329	Abnormal posterior eye segment morphology	8882	ZPR1	OMIM:619321
HP:0004329	Abnormal posterior eye segment morphology	29078	NDUFAF4	OMIM:618237
HP:0004329	Abnormal posterior eye segment morphology	79133	NDUFAF5	OMIM:618238
HP:0004329	Abnormal posterior eye segment morphology	79133	NDUFAF5	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	7248	TSC1	ORPHA:538
HP:0004329	Abnormal posterior eye segment morphology	7249	TSC2	ORPHA:538
HP:0004329	Abnormal posterior eye segment morphology	11152	WDR45	ORPHA:329284
HP:0004329	Abnormal posterior eye segment morphology	154881	KCTD7	OMIM:611726
HP:0004329	Abnormal posterior eye segment morphology	154881	KCTD7	ORPHA:263516
HP:0004329	Abnormal posterior eye segment morphology	84892	POMGNT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	1282	COL4A1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	729920	CRPPA	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	10329	RXYLT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	1605	DAG1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	11041	B4GAT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	84197	POMK	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	84197	POMK	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	79944	L2HGDH	OMIM:236792
HP:0004329	Abnormal posterior eye segment morphology	8869	ST3GAL5	OMIM:609056
HP:0004329	Abnormal posterior eye segment morphology	6904	TBCD	ORPHA:496641
HP:0004329	Abnormal posterior eye segment morphology	6904	TBCD	OMIM:617193
HP:0004329	Abnormal posterior eye segment morphology	5934	RBL2	OMIM:619690
HP:0004329	Abnormal posterior eye segment morphology	56915	EXOSC5	OMIM:619576
HP:0004329	Abnormal posterior eye segment morphology	55572	FOXRED1	OMIM:618241
HP:0004329	Abnormal posterior eye segment morphology	55572	FOXRED1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	123263	MTFMT	OMIM:618248
HP:0004329	Abnormal posterior eye segment morphology	123263	MTFMT	OMIM:614947
HP:0004329	Abnormal posterior eye segment morphology	123263	MTFMT	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	51079	NDUFA13	OMIM:618249
HP:0004329	Abnormal posterior eye segment morphology	51079	NDUFA13	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	2077	ERF	ORPHA:207
HP:0004329	Abnormal posterior eye segment morphology	549	AUH	OMIM:250950
HP:0004329	Abnormal posterior eye segment morphology	1312	COMT	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	221037	JMJD1C	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	2812	GP1BB	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	6239	RREB1	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	6899	TBX1	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	7290	HIRA	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	9632	SEC24C	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	7353	UFD1	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	421	ARVCF	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	2717	GLA	ORPHA:324
HP:0004329	Abnormal posterior eye segment morphology	84314	TMEM107	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	26123	TCTN3	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79867	TCTN2	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	80776	B9D2	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79600	TCTN1	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	51259	TMEM216	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79583	TMEM231	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79770	TXNDC15	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	27077	B9D1	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	23322	RPGRIP1L	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	65062	TMEM237	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	65062	TMEM237	OMIM:614424
HP:0004329	Abnormal posterior eye segment morphology	112812	FDX2	OMIM:251900
HP:0004329	Abnormal posterior eye segment morphology	51102	MECR	OMIM:617282
HP:0004329	Abnormal posterior eye segment morphology	51102	MECR	ORPHA:508093
HP:0004329	Abnormal posterior eye segment morphology	23258	DENND5A	OMIM:617281
HP:0004329	Abnormal posterior eye segment morphology	4784	NFIX	ORPHA:561
HP:0004329	Abnormal posterior eye segment morphology	9758	FRMPD4	OMIM:300983
HP:0004329	Abnormal posterior eye segment morphology	54681	P4HTM	OMIM:618493
HP:0004329	Abnormal posterior eye segment morphology	4700	NDUFA6	OMIM:618253
HP:0004329	Abnormal posterior eye segment morphology	2071	ERCC3	OMIM:610651
HP:0004329	Abnormal posterior eye segment morphology	2071	ERCC3	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	2071	ERCC3	ORPHA:220295
HP:0004329	Abnormal posterior eye segment morphology	5573	PRKAR1A	OMIM:101800
HP:0004329	Abnormal posterior eye segment morphology	64374	SIL1	ORPHA:559
HP:0004329	Abnormal posterior eye segment morphology	51763	INPP5K	ORPHA:559
HP:0004329	Abnormal posterior eye segment morphology	60386	SLC25A19	ORPHA:99742
HP:0004329	Abnormal posterior eye segment morphology	60386	SLC25A19	OMIM:607196
HP:0004329	Abnormal posterior eye segment morphology	84065	TMEM222	OMIM:619470
HP:0004329	Abnormal posterior eye segment morphology	29926	GMPPA	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	60684	TRAPPC11	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	8086	AAAS	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	8086	AAAS	OMIM:231550
HP:0004329	Abnormal posterior eye segment morphology	526	ATP6V1B2	ORPHA:79500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	ORPHA:79500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	ORPHA:352596
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	OMIM:220500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	OMIM:615338
HP:0004329	Abnormal posterior eye segment morphology	136647	MPLKIP	OMIM:234050
HP:0004329	Abnormal posterior eye segment morphology	493856	CISD2	OMIM:604928
HP:0004329	Abnormal posterior eye segment morphology	493856	CISD2	ORPHA:3463
HP:0004329	Abnormal posterior eye segment morphology	22978	NT5C2	ORPHA:320396
HP:0004329	Abnormal posterior eye segment morphology	22978	NT5C2	OMIM:613162
HP:0004329	Abnormal posterior eye segment morphology	100147744	RNU7-1	OMIM:619487
HP:0004329	Abnormal posterior eye segment morphology	51715	RAB23	OMIM:201000
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	ORPHA:171629
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	ORPHA:329308
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	OMIM:612319
HP:0004329	Abnormal posterior eye segment morphology	9373	PLAA	ORPHA:521426
HP:0004329	Abnormal posterior eye segment morphology	9373	PLAA	OMIM:617527
HP:0004329	Abnormal posterior eye segment morphology	23516	SLC39A14	OMIM:144755
HP:0004329	Abnormal posterior eye segment morphology	23636	NUP62	ORPHA:225154
HP:0004329	Abnormal posterior eye segment morphology	23636	NUP62	OMIM:271930
HP:0004329	Abnormal posterior eye segment morphology	103	ADAR	ORPHA:225154
HP:0004329	Abnormal posterior eye segment morphology	6389	SDHA	OMIM:619259
HP:0004329	Abnormal posterior eye segment morphology	6389	SDHA	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	6389	SDHA	OMIM:252011
HP:0004329	Abnormal posterior eye segment morphology	84231	TRAF7	OMIM:618164
HP:0004329	Abnormal posterior eye segment morphology	4668	NAGA	OMIM:609241
HP:0004329	Abnormal posterior eye segment morphology	4668	NAGA	ORPHA:79279
HP:0004329	Abnormal posterior eye segment morphology	131118	DNAJC19	ORPHA:66634
HP:0004329	Abnormal posterior eye segment morphology	131118	DNAJC19	OMIM:610198
HP:0004329	Abnormal posterior eye segment morphology	51594	NBAS	OMIM:614800
HP:0004329	Abnormal posterior eye segment morphology	11043	MID2	OMIM:300928
HP:0004329	Abnormal posterior eye segment morphology	2581	GALC	ORPHA:206436
HP:0004329	Abnormal posterior eye segment morphology	2581	GALC	OMIM:245200
HP:0004329	Abnormal posterior eye segment morphology	84233	TMEM126A	OMIM:612989
HP:0004329	Abnormal posterior eye segment morphology	9897	WASHC5	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	28952	CCDC22	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	1678	TIMM8A	ORPHA:52368
HP:0004329	Abnormal posterior eye segment morphology	129285	PPP1R21	OMIM:619383
HP:0004329	Abnormal posterior eye segment morphology	114034	TOE1	ORPHA:284339
HP:0004329	Abnormal posterior eye segment morphology	114034	TOE1	OMIM:614969
HP:0004329	Abnormal posterior eye segment morphology	4038	LRP4	ORPHA:3152
HP:0004329	Abnormal posterior eye segment morphology	1496	CTNNA2	OMIM:618174
HP:0004329	Abnormal posterior eye segment morphology	27445	PCLO	OMIM:608027
HP:0004329	Abnormal posterior eye segment morphology	8517	IKBKG	OMIM:308300
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	OMIM:610217
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	ORPHA:35069
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	OMIM:256600
HP:0004329	Abnormal posterior eye segment morphology	10134	BCAP31	OMIM:300475
HP:0004329	Abnormal posterior eye segment morphology	10134	BCAP31	ORPHA:369939
HP:0004329	Abnormal posterior eye segment morphology	23769	FLRT1	ORPHA:320406
HP:0004329	Abnormal posterior eye segment morphology	64837	KLC2	ORPHA:320406
HP:0004329	Abnormal posterior eye segment morphology	64837	KLC2	OMIM:609541
HP:0004329	Abnormal posterior eye segment morphology	4570	MT-TN	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	6834	SURF1	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	6834	SURF1	ORPHA:70474
HP:0004329	Abnormal posterior eye segment morphology	6834	SURF1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	25821	MTO1	OMIM:614702
HP:0004329	Abnormal posterior eye segment morphology	145173	B3GLCT	ORPHA:709
HP:0004329	Abnormal posterior eye segment morphology	2896	GRN	OMIM:614706
HP:0004329	Abnormal posterior eye segment morphology	80207	OPA3	OMIM:165300
HP:0004329	Abnormal posterior eye segment morphology	80207	OPA3	OMIM:258501
HP:0004329	Abnormal posterior eye segment morphology	80207	OPA3	ORPHA:67036
HP:0004329	Abnormal posterior eye segment morphology	79581	SLC52A2	OMIM:614707
HP:0004329	Abnormal posterior eye segment morphology	51218	GLRX5	ORPHA:401866
HP:0004329	Abnormal posterior eye segment morphology	51218	GLRX5	OMIM:616859
HP:0004329	Abnormal posterior eye segment morphology	374654	KIF7	OMIM:200990
HP:0004329	Abnormal posterior eye segment morphology	170302	ARX	OMIM:300004
HP:0004329	Abnormal posterior eye segment morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0004329	Abnormal posterior eye segment morphology	9640	ZNF592	ORPHA:83472
HP:0004329	Abnormal posterior eye segment morphology	1717	DHCR7	ORPHA:818
HP:0004329	Abnormal posterior eye segment morphology	5290	PIK3CA	ORPHA:99802
HP:0004329	Abnormal posterior eye segment morphology	5290	PIK3CA	ORPHA:60040
HP:0004329	Abnormal posterior eye segment morphology	2475	MTOR	ORPHA:99802
HP:0004329	Abnormal posterior eye segment morphology	10000	AKT3	ORPHA:99802
HP:0004329	Abnormal posterior eye segment morphology	271	AMPD2	OMIM:615809
HP:0004329	Abnormal posterior eye segment morphology	51204	TACO1	OMIM:619052
HP:0004329	Abnormal posterior eye segment morphology	51204	TACO1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	55037	PTCD3	OMIM:619057
HP:0004329	Abnormal posterior eye segment morphology	1757	SARDH	ORPHA:3129
HP:0004329	Abnormal posterior eye segment morphology	1716	DGUOK	ORPHA:329314
HP:0004329	Abnormal posterior eye segment morphology	55157	DARS2	ORPHA:137898
HP:0004329	Abnormal posterior eye segment morphology	686	BTD	OMIM:253260
HP:0004329	Abnormal posterior eye segment morphology	686	BTD	ORPHA:79241
HP:0004329	Abnormal posterior eye segment morphology	546	ATRX	ORPHA:847
HP:0004329	Abnormal posterior eye segment morphology	546	ATRX	OMIM:309580
HP:0004329	Abnormal posterior eye segment morphology	10367	MICU1	ORPHA:401768
HP:0004329	Abnormal posterior eye segment morphology	10367	MICU1	OMIM:615673
HP:0004329	Abnormal posterior eye segment morphology	9839	ZEB2	ORPHA:261552
HP:0004329	Abnormal posterior eye segment morphology	10382	TUBB4A	OMIM:612438
HP:0004329	Abnormal posterior eye segment morphology	84947	SERAC1	OMIM:614739
HP:0004329	Abnormal posterior eye segment morphology	7025	NR2F1	ORPHA:401777
HP:0004329	Abnormal posterior eye segment morphology	7025	NR2F1	OMIM:615722
HP:0004329	Abnormal posterior eye segment morphology	1593	CYP27A1	ORPHA:909
HP:0004329	Abnormal posterior eye segment morphology	11340	EXOSC8	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	5393	EXOSC9	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	23287	AGTPBP1	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	51010	EXOSC3	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	7443	VRK1	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	3748	KCNC3	ORPHA:98768
HP:0004329	Abnormal posterior eye segment morphology	3748	KCNC3	OMIM:605259
HP:0004329	Abnormal posterior eye segment morphology	11128	POLR3A	ORPHA:447896
HP:0004329	Abnormal posterior eye segment morphology	11128	POLR3A	ORPHA:3455
HP:0004329	Abnormal posterior eye segment morphology	11128	POLR3A	OMIM:607694
HP:0004329	Abnormal posterior eye segment morphology	8050	PDHX	OMIM:245349
HP:0004329	Abnormal posterior eye segment morphology	4256	MGP	ORPHA:85202
HP:0004329	Abnormal posterior eye segment morphology	25828	TXN2	OMIM:616811
HP:0004329	Abnormal posterior eye segment morphology	471	ATIC	OMIM:608688
HP:0004329	Abnormal posterior eye segment morphology	23065	EMC1	ORPHA:480898
HP:0004329	Abnormal posterior eye segment morphology	23065	EMC1	OMIM:616875
HP:0004329	Abnormal posterior eye segment morphology	6310	ATXN1	ORPHA:98755
HP:0004329	Abnormal posterior eye segment morphology	6310	ATXN1	OMIM:164400
HP:0004329	Abnormal posterior eye segment morphology	8573	CASK	ORPHA:163937
HP:0004329	Abnormal posterior eye segment morphology	55275	VPS53	OMIM:615851
HP:0004329	Abnormal posterior eye segment morphology	50628	GEMIN4	OMIM:617913
HP:0004329	Abnormal posterior eye segment morphology	283989	TSEN54	OMIM:277470
HP:0004329	Abnormal posterior eye segment morphology	81846	SBF2	ORPHA:99956
HP:0004329	Abnormal posterior eye segment morphology	22856	CHSY1	OMIM:605282
HP:0004329	Abnormal posterior eye segment morphology	22856	CHSY1	ORPHA:363417
HP:0004329	Abnormal posterior eye segment morphology	2776	GNAQ	ORPHA:3205
HP:0004329	Abnormal posterior eye segment morphology	92154	MTSS2	OMIM:620086
HP:0004329	Abnormal posterior eye segment morphology	28962	OSTM1	OMIM:259720
HP:0004329	Abnormal posterior eye segment morphology	23590	PDSS1	OMIM:614651
HP:0004329	Abnormal posterior eye segment morphology	79628	SH3TC2	ORPHA:99949
HP:0004329	Abnormal posterior eye segment morphology	9230	RAB11B	OMIM:617807
HP:0004329	Abnormal posterior eye segment morphology	90417	KNSTRN	OMIM:613328
HP:0004329	Abnormal posterior eye segment morphology	5293	PIK3CD	OMIM:613328
HP:0004329	Abnormal posterior eye segment morphology	7507	XPA	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	7508	XPC	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	1643	DDB2	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	8600	TNFSF11	OMIM:259710
HP:0004329	Abnormal posterior eye segment morphology	10075	HUWE1	OMIM:309590
HP:0004329	Abnormal posterior eye segment morphology	53616	ADAM22	OMIM:617933
HP:0004329	Abnormal posterior eye segment morphology	7473	WNT3	ORPHA:3301
HP:0004329	Abnormal posterior eye segment morphology	340419	RSPO2	ORPHA:3301
HP:0004329	Abnormal posterior eye segment morphology	1806	DPYD	OMIM:274270
HP:0004329	Abnormal posterior eye segment morphology	998	CDC42	OMIM:616737
HP:0004329	Abnormal posterior eye segment morphology	998	CDC42	ORPHA:487796
HP:0004329	Abnormal posterior eye segment morphology	10413	YAP1	ORPHA:1473
HP:0004329	Abnormal posterior eye segment morphology	10560	SLC19A2	ORPHA:49827
HP:0004329	Abnormal posterior eye segment morphology	10560	SLC19A2	OMIM:249270
HP:0004329	Abnormal posterior eye segment morphology	6314	ATXN7	OMIM:164500
HP:0004329	Abnormal posterior eye segment morphology	10342	TFG	ORPHA:431329
HP:0004329	Abnormal posterior eye segment morphology	10342	TFG	OMIM:615658
HP:0004329	Abnormal posterior eye segment morphology	9512	PMPCB	OMIM:617954
HP:0004329	Abnormal posterior eye segment morphology	2058	EPRS1	OMIM:617951
HP:0004329	Abnormal posterior eye segment morphology	54974	THG1L	OMIM:618800
HP:0004329	Abnormal posterior eye segment morphology	5604	MAP2K1	ORPHA:1340
HP:0004329	Abnormal posterior eye segment morphology	5605	MAP2K2	ORPHA:1340
HP:0004329	Abnormal posterior eye segment morphology	3845	KRAS	ORPHA:1340
HP:0004329	Abnormal posterior eye segment morphology	259232	NALCN	OMIM:615419
HP:0004329	Abnormal posterior eye segment morphology	128989	TANGO2	ORPHA:480864
HP:0004329	Abnormal posterior eye segment morphology	128989	TANGO2	OMIM:616878
HP:0004329	Abnormal posterior eye segment morphology	64093	SMOC1	ORPHA:1106
HP:0004329	Abnormal posterior eye segment morphology	9420	CYP7B1	OMIM:270800
HP:0004329	Abnormal posterior eye segment morphology	4007	PRICKLE3	OMIM:308905
HP:0004329	Abnormal posterior eye segment morphology	57511	COG6	OMIM:614576
HP:0004329	Abnormal posterior eye segment morphology	1729	DIAPH1	OMIM:616632
HP:0004329	Abnormal posterior eye segment morphology	57572	DOCK6	OMIM:614219
HP:0004329	Abnormal posterior eye segment morphology	760	CA2	ORPHA:2785
HP:0004329	Abnormal posterior eye segment morphology	64840	PORCN	OMIM:305600
HP:0004329	Abnormal posterior eye segment morphology	51501	HIKESHI	OMIM:616881
HP:0004329	Abnormal posterior eye segment morphology	22934	RPIA	OMIM:608611
HP:0004329	Abnormal posterior eye segment morphology	7040	TGFB1	ORPHA:1328
HP:0004329	Abnormal posterior eye segment morphology	25915	NDUFAF3	ORPHA:70474
HP:0004329	Abnormal posterior eye segment morphology	4714	NDUFB8	ORPHA:70474
HP:0004329	Abnormal posterior eye segment morphology	9997	SCO2	ORPHA:70474
HP:0004329	Abnormal posterior eye segment morphology	6452	SH3BP2	ORPHA:184
HP:0004329	Abnormal posterior eye segment morphology	51124	IER3IP1	OMIM:614231
HP:0004329	Abnormal posterior eye segment morphology	51816	ADA2	OMIM:615688
HP:0004329	Abnormal posterior eye segment morphology	55704	CCDC88A	OMIM:617507
HP:0004329	Abnormal posterior eye segment morphology	54676	GTPBP2	OMIM:617988
HP:0004329	Abnormal posterior eye segment morphology	5456	POU3F4	ORPHA:1435
HP:0004329	Abnormal posterior eye segment morphology	80704	SLC19A3	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4723	NDUFV1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	55967	NDUFA12	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4724	NDUFS4	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4728	NDUFS8	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	137682	NDUFAF6	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4722	NDUFS3	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	5160	PDHA1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	100131801	PET100	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	1355	COX15	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	1892	ECHS1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	374291	NDUFS7	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4705	NDUFA10	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	51601	LIPT1	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4695	NDUFA2	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	4697	NDUFA4	ORPHA:255241
HP:0004329	Abnormal posterior eye segment morphology	5538	PPT1	OMIM:256730
HP:0004329	Abnormal posterior eye segment morphology	387	RHOA	OMIM:618727
HP:0004329	Abnormal posterior eye segment morphology	55315	SLC29A3	ORPHA:1782
HP:0004329	Abnormal posterior eye segment morphology	8777	MPDZ	OMIM:615219
HP:0004329	Abnormal posterior eye segment morphology	57410	SCYL1	ORPHA:466794
HP:0004329	Abnormal posterior eye segment morphology	35	ACADS	ORPHA:26792
HP:0004329	Abnormal posterior eye segment morphology	80169	CTC1	OMIM:612199
HP:0004329	Abnormal posterior eye segment morphology	10844	TUBGCP2	OMIM:618737
HP:0004329	Abnormal posterior eye segment morphology	221927	BRAT1	OMIM:614498
HP:0004329	Abnormal posterior eye segment morphology	55753	OGDHL	OMIM:619701
HP:0004329	Abnormal posterior eye segment morphology	10939	AFG3L2	OMIM:618977
HP:0004329	Abnormal posterior eye segment morphology	5297	PI4KA	OMIM:619708
HP:0004329	Abnormal posterior eye segment morphology	344	APOC2	OMIM:207750
HP:0004329	Abnormal posterior eye segment morphology	2538	G6PC1	OMIM:232200
HP:0004329	Abnormal posterior eye segment morphology	338328	GPIHBP1	OMIM:615947
HP:0004329	Abnormal posterior eye segment morphology	4023	LPL	OMIM:238600
HP:0004329	Abnormal posterior eye segment morphology	2542	SLC37A4	OMIM:232220
HP:0004329	Abnormal posterior eye segment morphology	3590	IL11RA	OMIM:614188
HP:0004329	Abnormal posterior eye segment morphology	6598	SMARCB1	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	5155	PDGFB	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	51684	SUFU	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	6605	SMARCE1	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	6522	SLC4A2	OMIM:620366
HP:0004329	Abnormal posterior eye segment morphology	4313	MMP2	ORPHA:371428
HP:0004329	Abnormal posterior eye segment morphology	4323	MMP14	ORPHA:371428
HP:0004329	Abnormal posterior eye segment morphology	7386	UQCRFS1	OMIM:618775
HP:0004329	Abnormal posterior eye segment morphology	27151	CPAMD8	OMIM:617319
HP:0004329	Abnormal posterior eye segment morphology	57498	KIDINS220	OMIM:617296
HP:0004329	Abnormal posterior eye segment morphology	3291	HSD11B2	ORPHA:320
HP:0004329	Abnormal posterior eye segment morphology	3291	HSD11B2	OMIM:218030
HP:0004329	Abnormal posterior eye segment morphology	2034	EPAS1	ORPHA:276621
HP:0004329	Abnormal posterior eye segment morphology	8787	RGS9	OMIM:608415
HP:0004329	Abnormal posterior eye segment morphology	2591	GALNT3	OMIM:211900
HP:0004329	Abnormal posterior eye segment morphology	6609	SMPD1	OMIM:607616
HP:0004329	Abnormal posterior eye segment morphology	9382	COG1	ORPHA:263508
HP:0004329	Abnormal posterior eye segment morphology	10682	EBP	OMIM:300960
HP:0004329	Abnormal posterior eye segment morphology	4094	MAF	OMIM:610202
HP:0004329	Abnormal posterior eye segment morphology	406987	MIR204	OMIM:616722
HP:0004329	Abnormal posterior eye segment morphology	10273	STUB1	ORPHA:412057
HP:0004329	Abnormal posterior eye segment morphology	284217	LAMA1	OMIM:615960
HP:0004329	Abnormal posterior eye segment morphology	284217	LAMA1	ORPHA:370022
HP:0004329	Abnormal posterior eye segment morphology	56623	INPP5E	ORPHA:75858
HP:0004329	Abnormal posterior eye segment morphology	63915	BLOC1S5	OMIM:619172
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	OMIM:617050
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	ORPHA:1000
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	ORPHA:54
HP:0004329	Abnormal posterior eye segment morphology	3257	HPS1	OMIM:203300
HP:0004329	Abnormal posterior eye segment morphology	8546	AP3B1	OMIM:608233
HP:0004329	Abnormal posterior eye segment morphology	4935	GPR143	ORPHA:54
HP:0004329	Abnormal posterior eye segment morphology	4935	GPR143	OMIM:300500
HP:0004329	Abnormal posterior eye segment morphology	89781	HPS4	OMIM:614073
HP:0004329	Abnormal posterior eye segment morphology	11234	HPS5	OMIM:614074
HP:0004329	Abnormal posterior eye segment morphology	26258	BLOC1S6	OMIM:614171
HP:0004329	Abnormal posterior eye segment morphology	388552	BLOC1S3	OMIM:614077
HP:0004329	Abnormal posterior eye segment morphology	79803	HPS6	OMIM:614075
HP:0004329	Abnormal posterior eye segment morphology	84062	DTNBP1	OMIM:614076
HP:0004329	Abnormal posterior eye segment morphology	55714	TENM3	OMIM:615145
HP:0004329	Abnormal posterior eye segment morphology	6804	STX1A	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	7461	CLIP2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	8468	FKBP6	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	5982	RFC2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2969	GTF2I	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	3984	LIMK1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	9569	GTF2IRD1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	155382	VPS37D	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	155368	METTL27	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	114049	BUD23	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	7458	EIF4H	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	84163	GTF2IRD2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	9275	BCL7B	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	26608	TBL2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	653361	NCF1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	135886	TMEM270	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	51085	MLXIPL	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	51085	MLXIPL	OMIM:194050
HP:0004329	Abnormal posterior eye segment morphology	9031	BAZ1B	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2006	ELN	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2006	ELN	OMIM:194050
HP:0004329	Abnormal posterior eye segment morphology	1822	ATN1	ORPHA:101
HP:0004329	Abnormal posterior eye segment morphology	3949	LDLR	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	255738	PCSK9	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	26119	LDLRAP1	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	64240	ABCG5	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	64241	ABCG8	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	51103	NDUFAF1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	51300	TIMMDC1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4716	NDUFB10	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	55863	TMEM126B	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4726	NDUFS6	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4709	NDUFB3	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	80224	NUBPL	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4715	NDUFB9	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	55717	WDR11	OMIM:620237
HP:0004329	Abnormal posterior eye segment morphology	1969	EPHA2	OMIM:116600
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	ORPHA:90654
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	OMIM:604841
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	ORPHA:560
HP:0004329	Abnormal posterior eye segment morphology	5062	PAK2	ORPHA:1571
HP:0004329	Abnormal posterior eye segment morphology	8565	YARS1	OMIM:619418
HP:0004329	Abnormal posterior eye segment morphology	2629	GBA1	OMIM:230800
HP:0004329	Abnormal posterior eye segment morphology	169522	KCNV2	OMIM:610356
HP:0004329	Abnormal posterior eye segment morphology	2811	GP1BA	OMIM:258660
HP:0004329	Abnormal posterior eye segment morphology	4854	NOTCH3	OMIM:125310
HP:0004329	Abnormal posterior eye segment morphology	83696	TRAPPC9	ORPHA:352530
HP:0004329	Abnormal posterior eye segment morphology	4595	MUTYH	ORPHA:247798
HP:0004329	Abnormal posterior eye segment morphology	388015	RTL1	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	8788	DLK1	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	55384	MEG3	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	875	CBS	ORPHA:394
HP:0004329	Abnormal posterior eye segment morphology	54806	AHI1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	8100	IFT88	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	762	CA4	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	23370	ARHGEF18	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	55624	POMGNT1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	3617	IMPG1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	6873	TAF2	ORPHA:397951
HP:0004329	Abnormal posterior eye segment morphology	63916	ELMO2	ORPHA:3019
HP:0004329	Abnormal posterior eye segment morphology	5956	OPN1LW	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	5956	OPN1LW	ORPHA:16
HP:0004329	Abnormal posterior eye segment morphology	778	CACNA1F	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	778	CACNA1F	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	8754	ADAM9	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	22999	RIMS1	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	128338	DRAM2	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	2652	OPN1MW	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	2652	OPN1MW	ORPHA:16
HP:0004329	Abnormal posterior eye segment morphology	9094	UNC119	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	93589	CACNA2D4	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	93589	CACNA2D4	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	282809	POC1B	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	83394	PITPNM3	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	23093	TTLL5	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	9364	RAB28	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	22880	MORC2	ORPHA:466768
HP:0004329	Abnormal posterior eye segment morphology	1908	EDN3	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	4286	MITF	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	1910	EDNRB	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	6663	SOX10	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	5080	PAX6	ORPHA:35737
HP:0004329	Abnormal posterior eye segment morphology	65082	VPS33A	ORPHA:505248
HP:0004329	Abnormal posterior eye segment morphology	26022	TMEM98	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	6657	SOX2	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	220	ALDH1A3	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	646960	PRSS56	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	30062	RAX	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	5015	OTX2	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	4990	SIX6	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	6023	RMRP	ORPHA:175
HP:0004329	Abnormal posterior eye segment morphology	2068	ERCC2	ORPHA:1466
HP:0004329	Abnormal posterior eye segment morphology	2067	ERCC1	ORPHA:1466
HP:0004329	Abnormal posterior eye segment morphology	2074	ERCC6	ORPHA:1466
HP:0004329	Abnormal posterior eye segment morphology	2073	ERCC5	ORPHA:1466
HP:0004329	Abnormal posterior eye segment morphology	3423	IDS	ORPHA:217085
HP:0004329	Abnormal posterior eye segment morphology	3423	IDS	ORPHA:217093
HP:0004329	Abnormal posterior eye segment morphology	3423	IDS	OMIM:309900
HP:0004329	Abnormal posterior eye segment morphology	1130	LYST	ORPHA:167
HP:0004329	Abnormal posterior eye segment morphology	7274	TTPA	ORPHA:96
HP:0004329	Abnormal posterior eye segment morphology	54476	RNF216	ORPHA:1173
HP:0004329	Abnormal posterior eye segment morphology	10908	PNPLA6	ORPHA:1173
HP:0004329	Abnormal posterior eye segment morphology	4000	LMNA	ORPHA:79474
HP:0004329	Abnormal posterior eye segment morphology	2202	EFEMP1	ORPHA:75376
HP:0004329	Abnormal posterior eye segment morphology	3075	CFH	ORPHA:75376
HP:0004329	Abnormal posterior eye segment morphology	3426	CFI	ORPHA:75376
HP:0004329	Abnormal posterior eye segment morphology	55112	DYNC2I1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	153241	CEP120	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	57560	IFT80	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	51626	DYNC2LI1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	79659	DYNC2H1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	79809	TTC21B	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	343035	RD3	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	10383	TUBB4B	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	5130	PCYT1A	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	5130	PCYT1A	ORPHA:85167
HP:0004329	Abnormal posterior eye segment morphology	392255	GDF6	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	6197	RPS6KA3	ORPHA:192
HP:0004329	Abnormal posterior eye segment morphology	157680	VPS13B	ORPHA:193
HP:0004329	Abnormal posterior eye segment morphology	7486	WRN	ORPHA:902
HP:0004329	Abnormal posterior eye segment morphology	63895	PIEZO2	OMIM:108145
HP:0004329	Abnormal posterior eye segment morphology	5184	PEPD	ORPHA:742
HP:0004329	Abnormal posterior eye segment morphology	5728	PTEN	ORPHA:744
HP:0004329	Abnormal posterior eye segment morphology	207	AKT1	ORPHA:744
HP:0004329	Abnormal posterior eye segment morphology	285362	SUMF1	ORPHA:585
HP:0004329	Abnormal posterior eye segment morphology	4982	TNFRSF11B	ORPHA:2801
HP:0004329	Abnormal posterior eye segment morphology	8792	TNFRSF11A	ORPHA:2801
HP:0004329	Abnormal posterior eye segment morphology	3832	KIF11	ORPHA:2526
HP:0004329	Abnormal posterior eye segment morphology	1356	CP	ORPHA:48818
HP:0004329	Abnormal posterior eye segment morphology	4308	TRPM1	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	57010	CABP4	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	345193	LRIT3	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2916	GRM6	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	440435	GPR179	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2784	GNB3	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	60506	NYX	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	57192	MCOLN1	ORPHA:578
HP:0004329	Abnormal posterior eye segment morphology	85378	TUBGCP6	ORPHA:2518
HP:0004329	Abnormal posterior eye segment morphology	85378	TUBGCP6	OMIM:251270
HP:0004329	Abnormal posterior eye segment morphology	27229	TUBGCP4	ORPHA:2518
HP:0004329	Abnormal posterior eye segment morphology	10733	PLK4	ORPHA:2518
HP:0004329	Abnormal posterior eye segment morphology	2317	FLNB	OMIM:272460
HP:0004329	Abnormal posterior eye segment morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0004329	Abnormal posterior eye segment morphology	22930	RAB3GAP1	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	25782	RAB3GAP2	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	22931	RAB18	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	128637	TBC1D20	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	201163	FLCN	ORPHA:122
HP:0004329	Abnormal posterior eye segment morphology	3030	HADHA	ORPHA:5
HP:0004329	Abnormal posterior eye segment morphology	4509	MT-ATP8	ORPHA:480
HP:0004329	Abnormal posterior eye segment morphology	9990	SLC12A6	ORPHA:1496
HP:0004329	Abnormal posterior eye segment morphology	57724	EPG5	ORPHA:1493
HP:0004329	Abnormal posterior eye segment morphology	27130	INVS	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	4867	NPHP1	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	27031	NPHP3	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	22897	CEP164	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	4157	MC1R	ORPHA:79432
HP:0004329	Abnormal posterior eye segment morphology	4948	OCA2	ORPHA:79432
HP:0004329	Abnormal posterior eye segment morphology	7299	TYR	ORPHA:79434
HP:0004329	Abnormal posterior eye segment morphology	51151	SLC45A2	ORPHA:79435
HP:0004329	Abnormal posterior eye segment morphology	1001	CDH3	ORPHA:1897
HP:0004329	Abnormal posterior eye segment morphology	7840	ALMS1	ORPHA:64
HP:0004329	Abnormal posterior eye segment morphology	285440	CYP4V2	ORPHA:41751
HP:0004329	Abnormal posterior eye segment morphology	6785	ELOVL4	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	6247	RS1	OMIM:312700
HP:0004329	Abnormal posterior eye segment morphology	224	ALDH3A2	OMIM:270200
HP:0004329	Abnormal posterior eye segment morphology	83552	MFRP	OMIM:611040
HP:0004329	Abnormal posterior eye segment morphology	7078	TIMP3	ORPHA:59181
HP:0004329	Abnormal posterior eye segment morphology	1462	VCAN	OMIM:143200
HP:0004329	Abnormal posterior eye segment morphology	4952	OCRL	ORPHA:534
HP:0004329	Abnormal posterior eye segment morphology	57479	PRR12	OMIM:619539
HP:0004329	Abnormal posterior eye segment morphology	7360	UGP2	OMIM:618744
HP:0004329	Abnormal posterior eye segment morphology	4166	CHST6	OMIM:217800
HP:0004329	Abnormal posterior eye segment morphology	93426	SYCE1	OMIM:616947
HP:0004329	Abnormal posterior eye segment morphology	2658	GDF2	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	4089	SMAD4	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	2022	ENG	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	79991	STN1	OMIM:617341
HP:0004329	Abnormal posterior eye segment morphology	5111	PCNA	ORPHA:438134
HP:0004329	Abnormal posterior eye segment morphology	9935	MAFB	ORPHA:233
HP:0004329	Abnormal posterior eye segment morphology	1123	CHN1	ORPHA:233
HP:0004329	Abnormal posterior eye segment morphology	3192	HNRNPU	ORPHA:238769
HP:0004329	Abnormal posterior eye segment morphology	54802	TRIT1	OMIM:617873
HP:0004329	Abnormal posterior eye segment morphology	55770	EXOC2	OMIM:619306
HP:0004329	Abnormal posterior eye segment morphology	5361	PLXNA1	OMIM:619955
HP:0004329	Abnormal posterior eye segment morphology	9573	GDF3	OMIM:613703
HP:0004329	Abnormal posterior eye segment morphology	1298	COL9A2	OMIM:614284
HP:0004329	Abnormal posterior eye segment morphology	1298	COL9A2	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	1299	COL9A3	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	84695	LOXL3	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	84196	USP48	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	7157	TP53	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	9101	USP8	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	2908	NR3C1	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	1497	CTNS	OMIM:219800
HP:0004329	Abnormal posterior eye segment morphology	1497	CTNS	OMIM:219900
HP:0004329	Abnormal posterior eye segment morphology	4683	NBN	OMIM:251260
HP:0004329	Abnormal posterior eye segment morphology	4329	ALDH6A1	OMIM:614105
HP:0004329	Abnormal posterior eye segment morphology	23761	PISD	OMIM:618889
HP:0004329	Abnormal posterior eye segment morphology	27072	VPS41	OMIM:619389
HP:0004329	Abnormal posterior eye segment morphology	51098	IFT52	OMIM:617102
HP:0004329	Abnormal posterior eye segment morphology	8449	DHX16	OMIM:618733
HP:0004329	Abnormal posterior eye segment morphology	7276	TTR	OMIM:105210
HP:0004329	Abnormal posterior eye segment morphology	1121	CHM	OMIM:303100
HP:0004329	Abnormal posterior eye segment morphology	94137	RP1L1	OMIM:618826
HP:0004329	Abnormal posterior eye segment morphology	3035	HARS1	OMIM:614504
HP:0004329	Abnormal posterior eye segment morphology	84839	RAX2	OMIM:620102
HP:0004329	Abnormal posterior eye segment morphology	25914	RTTN	ORPHA:468631
HP:0004329	Abnormal posterior eye segment morphology	80781	COL18A1	OMIM:267750
HP:0004329	Abnormal posterior eye segment morphology	49855	SCAPER	OMIM:618195
HP:0004329	Abnormal posterior eye segment morphology	5959	RDH5	ORPHA:52427
HP:0004329	Abnormal posterior eye segment morphology	55812	SPATA7	ORPHA:364055
HP:0004329	Abnormal posterior eye segment morphology	167691	LCA5	ORPHA:364055
HP:0004329	Abnormal posterior eye segment morphology	64801	ARV1	OMIM:617020
HP:0004329	Abnormal posterior eye segment morphology	3419	IDH3A	OMIM:619007
HP:0004329	Abnormal posterior eye segment morphology	85015	USP45	OMIM:618513
HP:0004329	Abnormal posterior eye segment morphology	57096	RPGRIP1	OMIM:613826
HP:0004329	Abnormal posterior eye segment morphology	6742	SSBP1	OMIM:165510
HP:0004329	Abnormal posterior eye segment morphology	22926	ATF6	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	5146	PDE6C	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	5149	PDE6H	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	2780	GNAT2	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	1261	CNGA3	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	54714	CNGB3	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	83723	TLCD3B	OMIM:619531
HP:0004329	Abnormal posterior eye segment morphology	112752	IFT43	OMIM:617871
HP:0004329	Abnormal posterior eye segment morphology	7275	TUB	OMIM:616188
HP:0004329	Abnormal posterior eye segment morphology	9187	SLC24A1	OMIM:613830
HP:0004329	Abnormal posterior eye segment morphology	26504	CNNM4	OMIM:217080
HP:0004329	Abnormal posterior eye segment morphology	6533	SLC6A6	OMIM:145350
HP:0004329	Abnormal posterior eye segment morphology	64802	NMNAT1	OMIM:608553
HP:0004329	Abnormal posterior eye segment morphology	64802	NMNAT1	OMIM:619260
HP:0004329	Abnormal posterior eye segment morphology	2072	ERCC4	OMIM:610965
HP:0004329	Abnormal posterior eye segment morphology	23155	CLCC1	OMIM:609913
HP:0004329	Abnormal posterior eye segment morphology	116150	NUS1	OMIM:617082
HP:0004329	Abnormal posterior eye segment morphology	2257	FGF12	OMIM:617166
HP:0004329	Abnormal posterior eye segment morphology	57670	KIAA1549	OMIM:618613
HP:0004329	Abnormal posterior eye segment morphology	145226	RDH12	OMIM:612712
HP:0004329	Abnormal posterior eye segment morphology	63901	FAM111A	OMIM:127000
HP:0004329	Abnormal posterior eye segment morphology	63901	FAM111A	ORPHA:93325
HP:0004329	Abnormal posterior eye segment morphology	59	ACTA2	OMIM:613834
HP:0004329	Abnormal posterior eye segment morphology	5077	PAX3	OMIM:193500
HP:0004329	Abnormal posterior eye segment morphology	26277	TINF2	OMIM:268130
HP:0004329	Abnormal posterior eye segment morphology	26277	TINF2	OMIM:613990
HP:0004329	Abnormal posterior eye segment morphology	5624	PROC	OMIM:612304
HP:0004329	Abnormal posterior eye segment morphology	8314	BAP1	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	57105	CYSLTR2	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	23451	SF3B1	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	23137	SMC5	OMIM:620185
HP:0004329	Abnormal posterior eye segment morphology	26278	SACS	ORPHA:98
HP:0004329	Abnormal posterior eye segment morphology	26278	SACS	OMIM:270550
HP:0004329	Abnormal posterior eye segment morphology	5159	PDGFRB	OMIM:601812
HP:0004329	Abnormal posterior eye segment morphology	7003	TEAD1	OMIM:108985
HP:0004329	Abnormal posterior eye segment morphology	10312	TCIRG1	ORPHA:210110
HP:0004329	Abnormal posterior eye segment morphology	1186	CLCN7	ORPHA:210110
HP:0004329	Abnormal posterior eye segment morphology	9842	PLEKHM1	ORPHA:210110
HP:0004329	Abnormal posterior eye segment morphology	1495	CTNNA1	OMIM:608970
HP:0004329	Abnormal posterior eye segment morphology	1297	COL9A1	OMIM:614134
HP:0004329	Abnormal posterior eye segment morphology	2065	ERBB3	OMIM:607598
HP:0004329	Abnormal posterior eye segment morphology	1302	COL11A2	ORPHA:1427
HP:0004329	Abnormal posterior eye segment morphology	2301	FOXE3	ORPHA:83461
HP:0004329	Abnormal posterior eye segment morphology	5147	PDE6D	OMIM:615665
HP:0004329	Abnormal posterior eye segment morphology	2161	F12	ORPHA:330
HP:0004329	Abnormal posterior eye segment morphology	146167	SLC38A8	OMIM:609218
HP:0004329	Abnormal posterior eye segment morphology	25974	MMACHC	ORPHA:79282
HP:0004329	Abnormal posterior eye segment morphology	22947	DUX4L1	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	1789	DNMT3B	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	23347	SMCHD1	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	100288687	DUX4	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	2296	FOXC1	ORPHA:250923
HP:0004329	Abnormal posterior eye segment morphology	54765	TRIM44	ORPHA:250923
HP:0004329	Abnormal posterior eye segment morphology	1743	DLST	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	5979	RET	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	23095	KIF1B	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	8402	SLC25A11	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	54949	SDHAF2	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	55654	TMEM127	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	6391	SDHC	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	4149	MAX	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	3458	IFNG	OMIM:613254
HP:0004329	Abnormal posterior eye segment morphology	11200	CHEK2	OMIM:259500
HP:0004329	Abnormal posterior eye segment morphology	5476	CTSA	ORPHA:351
HP:0004329	Abnormal posterior eye segment morphology	5476	CTSA	OMIM:256540
HP:0004329	Abnormal posterior eye segment morphology	3074	HEXB	ORPHA:309155
HP:0004329	Abnormal posterior eye segment morphology	3074	HEXB	OMIM:268800
HP:0004329	Abnormal posterior eye segment morphology	3073	HEXA	OMIM:272800
HP:0004329	Abnormal posterior eye segment morphology	1615	DARS1	OMIM:615281
HP:0004329	Abnormal posterior eye segment morphology	2760	GM2A	ORPHA:309246
HP:0004329	Abnormal posterior eye segment morphology	54499	TMCO1	OMIM:213980
HP:0004329	Abnormal posterior eye segment morphology	54675	CRLS1	OMIM:620167
HP:0004329	Abnormal posterior eye segment morphology	64131	XYLT1	OMIM:264800
HP:0004329	Abnormal posterior eye segment morphology	64132	XYLT2	OMIM:264800
HP:0004329	Abnormal posterior eye segment morphology	2201	FBN2	OMIM:616118
HP:0004329	Abnormal posterior eye segment morphology	2192	FBLN1	ORPHA:404451
HP:0004329	Abnormal posterior eye segment morphology	5076	PAX2	OMIM:120330
HP:0004329	Abnormal posterior eye segment morphology	83715	ESPN	OMIM:618632
HP:0004329	Abnormal posterior eye segment morphology	10516	FBLN5	OMIM:608895
HP:0004329	Abnormal posterior eye segment morphology	11235	PDCD10	ORPHA:221061
HP:0004329	Abnormal posterior eye segment morphology	83605	CCM2	ORPHA:221061
HP:0004329	Abnormal posterior eye segment morphology	889	KRIT1	ORPHA:221061
HP:0004329	Abnormal posterior eye segment morphology	3105	HLA-A	ORPHA:179
HP:0004329	Abnormal posterior eye segment morphology	5925	RB1	OMIM:180200
HP:0004329	Abnormal posterior eye segment morphology	54539	NDUFB11	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	1349	COX7B	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	3052	HCCS	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	4693	NDP	OMIM:305390
HP:0004329	Abnormal posterior eye segment morphology	3769	KCNJ13	OMIM:193230
HP:0004329	Abnormal posterior eye segment morphology	5322	PLA2G5	OMIM:228980
HP:0004329	Abnormal posterior eye segment morphology	4942	OAT	OMIM:258870
HP:0004329	Abnormal posterior eye segment morphology	2483	FRG1	OMIM:158900
HP:0004329	Abnormal posterior eye segment morphology	4016	LOXL1	OMIM:177650
HP:0004329	Abnormal posterior eye segment morphology	462	SERPINC1	ORPHA:82
HP:0004329	Abnormal posterior eye segment morphology	5718	PSMD12	OMIM:617516
HP:0004329	Abnormal posterior eye segment morphology	7010	TEK	OMIM:617272
HP:0004329	Abnormal posterior eye segment morphology	1009	CDH11	OMIM:211380
HP:0004329	Abnormal posterior eye segment morphology	136371	ASB10	OMIM:603383
HP:0004329	Abnormal posterior eye segment morphology	23474	ETHE1	ORPHA:51188
HP:0004329	Abnormal posterior eye segment morphology	9993	DGCR2	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	8220	ESS2	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	8214	DGCR6	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	54487	DGCR8	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	1063	CENPF	OMIM:243605
HP:0004329	Abnormal posterior eye segment morphology	3913	LAMB2	OMIM:609049
HP:0004329	Abnormal posterior eye segment morphology	7490	WT1	OMIM:106210
HP:0004329	Abnormal posterior eye segment morphology	4976	OPA1	ORPHA:1215
HP:0004329	Abnormal posterior eye segment morphology	84277	DNAJC30	OMIM:619382
HP:0004329	Abnormal posterior eye segment morphology	157657	CFAP418	OMIM:614500
HP:0004329	Abnormal posterior eye segment morphology	5961	PRPH2	OMIM:169150
HP:0004329	Abnormal posterior eye segment morphology	10625	IVNS1ABP	OMIM:618969
HP:0004329	Abnormal posterior eye segment morphology	3932	LCK	OMIM:615758
HP:0004329	Abnormal posterior eye segment morphology	23545	ATP6V0A2	ORPHA:357074
HP:0004329	Abnormal posterior eye segment morphology	529	ATP6V1E1	ORPHA:357074
HP:0004329	Abnormal posterior eye segment morphology	1545	CYP1B1	ORPHA:98977
HP:0004329	Abnormal posterior eye segment morphology	4653	MYOC	ORPHA:98977
HP:0004329	Abnormal posterior eye segment morphology	3490	IGFBP7	OMIM:614224
HP:0004329	Abnormal posterior eye segment morphology	7306	TYRP1	ORPHA:79433
HP:0004329	Abnormal posterior eye segment morphology	9699	RIMS2	OMIM:618970
HP:0004329	Abnormal posterior eye segment morphology	94	ACVRL1	OMIM:600376
HP:0004329	Abnormal posterior eye segment morphology	2673	GFPT1	OMIM:610542
HP:0004329	Abnormal posterior eye segment morphology	1181	CLCN2	OMIM:615651
HP:0004329	Abnormal posterior eye segment morphology	71	ACTG1	ORPHA:2995
HP:0004329	Abnormal posterior eye segment morphology	60	ACTB	ORPHA:2995
HP:0004329	Abnormal posterior eye segment morphology	23503	ZFYVE26	ORPHA:100996
HP:0004329	Abnormal posterior eye segment morphology	4758	NEU1	ORPHA:93400
HP:0004329	Abnormal posterior eye segment morphology	189	AGXT	OMIM:259900
HP:0004329	Abnormal posterior eye segment morphology	283652	SLC24A5	ORPHA:370097
HP:0004329	Abnormal posterior eye segment morphology	3000	GUCY2D	ORPHA:75377
HP:0004329	Abnormal posterior eye segment morphology	2978	GUCA1A	ORPHA:75377
HP:0004329	Abnormal posterior eye segment morphology	6017	RLBP1	ORPHA:85128
HP:0004329	Abnormal posterior eye segment morphology	7123	CLEC3B	OMIM:619977
HP:0004329	Abnormal posterior eye segment morphology	85465	SELENOI	ORPHA:506353
HP:0004329	Abnormal posterior eye segment morphology	256471	MFSD8	OMIM:616170
HP:0004329	Abnormal posterior eye segment morphology	326	AIRE	OMIM:240300
HP:0004329	Abnormal posterior eye segment morphology	22901	ARSG	OMIM:618144
HP:0004329	Abnormal posterior eye segment morphology	2615	LRRC32	OMIM:619074
HP:0004329	Abnormal posterior eye segment morphology	726	CAPN5	OMIM:193235
HP:0004329	Abnormal posterior eye segment morphology	220202	ATOH7	ORPHA:91495
HP:0004329	Abnormal posterior eye segment morphology	1280	COL2A1	OMIM:108300
HP:0004329	Abnormal posterior eye segment morphology	9786	KIAA0586	ORPHA:397715
HP:0004329	Abnormal posterior eye segment morphology	11277	TREX1	ORPHA:247691
HP:0004329	Abnormal posterior eye segment morphology	348	APOE	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	83872	HMCN1	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	3078	CFHR1	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	10878	CFHR3	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	10058	ABCB6	OMIM:614497
HP:0004329	Abnormal posterior eye segment morphology	51134	CEP83	OMIM:615862
HP:0004329	Abnormal posterior eye segment morphology	26005	C2CD3	OMIM:615948
HP:0004329	Abnormal posterior eye segment morphology	79848	CSPP1	OMIM:615636
HP:0004329	Abnormal posterior eye segment morphology	51112	TRAPPC12	OMIM:617669
HP:0004329	Abnormal posterior eye segment morphology	5950	RBP4	OMIM:616428
HP:0004329	Abnormal posterior eye segment morphology	6492	SIM1	ORPHA:398079
HP:0004329	Abnormal posterior eye segment morphology	54551	MAGEL2	ORPHA:398069
HP:0004329	Abnormal posterior eye segment morphology	1638	DCT	OMIM:619165
HP:0004329	Abnormal posterior eye segment morphology	10166	SLC25A15	ORPHA:415
HP:0004329	Abnormal posterior eye segment morphology	7428	VHL	ORPHA:892
HP:0004329	Abnormal posterior eye segment morphology	595	CCND1	ORPHA:892
HP:0004329	Abnormal posterior eye segment morphology	1499	CTNNB1	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	23554	TSPAN12	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	4041	LRP5	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	79797	ZNF408	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	8322	FZD4	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	114902	C1QTNF5	ORPHA:67042
HP:0004329	Abnormal posterior eye segment morphology	138050	HGSNAT	OMIM:616544
HP:0004329	Abnormal posterior eye segment morphology	114548	NLRP3	OMIM:148200
HP:0004329	Abnormal posterior eye segment morphology	324	APC	ORPHA:99818
HP:0004329	Abnormal posterior eye segment morphology	4771	NF2	ORPHA:637
HP:0004329	Abnormal posterior eye segment morphology	4771	NF2	OMIM:101000
HP:0004329	Abnormal posterior eye segment morphology	51095	TRNT1	OMIM:616959
HP:0004329	Abnormal posterior eye segment morphology	51284	TLR7	OMIM:301080
HP:0004329	Abnormal posterior eye segment morphology	149233	IL23R	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	6775	STAT4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3586	IL10	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	4210	MEFV	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	1230	CCR1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	355	FAS	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3592	IL12A	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	7099	TLR4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3459	IFNGR1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	720	C4A	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	337867	UBAC2	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	51752	ERAP1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	8302	KLRC4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	9692	PRORP	OMIM:619737
HP:0004329	Abnormal posterior eye segment morphology	153642	ARSK	OMIM:619698
HP:0004329	Abnormal posterior eye segment morphology	55214	P3H2	OMIM:614292
HP:0004329	Abnormal posterior eye segment morphology	6091	ROBO1	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	50937	CDON	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	23432	GPR161	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	9578	CDC42BPB	OMIM:619841
HP:0004329	Abnormal posterior eye segment morphology	170692	ADAMTS18	OMIM:615458
HP:0004329	Abnormal posterior eye segment morphology	1804	DPP6	OMIM:616311
HP:0004329	Abnormal posterior eye segment morphology	6935	ZEB1	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	30813	VSX1	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	58495	OVOL2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	79977	GRHL2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	1296	COL8A2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	55901	THSD1	OMIM:620244
HP:0004329	Abnormal posterior eye segment morphology	126792	B3GALT6	ORPHA:536467
HP:0004329	Abnormal posterior eye segment morphology	4327	MMP19	OMIM:611543
HP:0004330	Increased skull ossification	6448	SGSH	OMIM:252900
HP:0004330	Increased skull ossification	138050	HGSNAT	OMIM:252930
HP:0004330	Increased skull ossification	4669	NAGLU	OMIM:252920
HP:0004330	Increased skull ossification	55733	HHAT	ORPHA:1422
HP:0004330	Increased skull ossification	5934	RBL2	OMIM:619690
HP:0004330	Increased skull ossification	1436	CSF1R	OMIM:618476
HP:0004330	Increased skull ossification	28962	OSTM1	ORPHA:85179
HP:0004330	Increased skull ossification	7415	VCP	ORPHA:329475
HP:0004333	Bone-marrow foam cells	6609	SMPD1	OMIM:607616
HP:0004333	Bone-marrow foam cells	6609	SMPD1	OMIM:257200
HP:0004333	Bone-marrow foam cells	3988	LIPA	OMIM:278000
HP:0004333	Bone-marrow foam cells	3988	LIPA	ORPHA:75233
HP:0004333	Bone-marrow foam cells	10577	NPC2	OMIM:607625
HP:0004333	Bone-marrow foam cells	4864	NPC1	OMIM:257220
HP:0004333	Bone-marrow foam cells	4758	NEU1	OMIM:256550
HP:0004337	Abnormality of amino acid metabolism	6898	TAT	ORPHA:28378
HP:0004337	Abnormality of amino acid metabolism	875	CBS	ORPHA:394
HP:0004337	Abnormality of amino acid metabolism	2068	ERCC2	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2073	ERCC5	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2072	ERCC4	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2071	ERCC3	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	175	AGA	ORPHA:93
HP:0004337	Abnormality of amino acid metabolism	55532	SLC30A10	ORPHA:309854
HP:0004338	Abnormal circulating aromatic amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0004338	Abnormal circulating aromatic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD	OMIM:276710
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD	OMIM:140350
HP:0004338	Abnormal circulating aromatic amino acid concentration	6898	TAT	OMIM:276600
HP:0004338	Abnormal circulating aromatic amino acid concentration	2184	FAH	OMIM:276700
HP:0004338	Abnormal circulating aromatic amino acid concentration	617	BCS1L	OMIM:124000
HP:0004338	Abnormal circulating aromatic amino acid concentration	7019	TFAM	OMIM:617156
HP:0004338	Abnormal circulating aromatic amino acid concentration	10841	FTCD	OMIM:229100
HP:0004338	Abnormal circulating aromatic amino acid concentration	8942	KYNU	ORPHA:79155
HP:0004338	Abnormal circulating aromatic amino acid concentration	5805	PTS	OMIM:261640
HP:0004338	Abnormal circulating aromatic amino acid concentration	5860	QDPR	OMIM:261630
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1	ORPHA:98808
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1	OMIM:128230
HP:0004338	Abnormal circulating aromatic amino acid concentration	4929	NR4A2	ORPHA:98808
HP:0004338	Abnormal circulating aromatic amino acid concentration	3615	IMPDH2	ORPHA:98808
HP:0004338	Abnormal circulating aromatic amino acid concentration	5092	PCBD1	OMIM:264070
HP:0004338	Abnormal circulating aromatic amino acid concentration	6697	SPR	OMIM:612716
HP:0004338	Abnormal circulating aromatic amino acid concentration	55163	PNPO	ORPHA:79096
HP:0004338	Abnormal circulating aromatic amino acid concentration	5053	PAH	OMIM:261600
HP:0004338	Abnormal circulating aromatic amino acid concentration	6999	TDO2	OMIM:600627
HP:0004339	Abnormal circulating sulfur amino acid concentration	4552	MTRR	OMIM:236270
HP:0004339	Abnormal circulating sulfur amino acid concentration	4552	MTRR	ORPHA:2169
HP:0004339	Abnormal circulating sulfur amino acid concentration	4524	MTHFR	OMIM:236250
HP:0004339	Abnormal circulating sulfur amino acid concentration	4524	MTHFR	ORPHA:395
HP:0004339	Abnormal circulating sulfur amino acid concentration	6573	SLC19A1	OMIM:601775
HP:0004339	Abnormal circulating sulfur amino acid concentration	4522	MTHFD1	OMIM:617780
HP:0004339	Abnormal circulating sulfur amino acid concentration	55788	LMBRD1	OMIM:277380
HP:0004339	Abnormal circulating sulfur amino acid concentration	55788	LMBRD1	ORPHA:79284
HP:0004339	Abnormal circulating sulfur amino acid concentration	25974	MMACHC	ORPHA:79282
HP:0004339	Abnormal circulating sulfur amino acid concentration	25974	MMACHC	OMIM:277400
HP:0004339	Abnormal circulating sulfur amino acid concentration	3054	HCFC1	OMIM:309541
HP:0004339	Abnormal circulating sulfur amino acid concentration	51293	CD320	OMIM:613646
HP:0004339	Abnormal circulating sulfur amino acid concentration	5826	ABCD4	OMIM:614857
HP:0004339	Abnormal circulating sulfur amino acid concentration	4548	MTR	OMIM:250940
HP:0004339	Abnormal circulating sulfur amino acid concentration	27249	MMADHC	OMIM:277410
HP:0004339	Abnormal circulating sulfur amino acid concentration	5052	PRDX1	OMIM:277400
HP:0004339	Abnormal circulating sulfur amino acid concentration	84693	MCEE	OMIM:251120
HP:0004339	Abnormal circulating sulfur amino acid concentration	191	AHCY	OMIM:613752
HP:0004339	Abnormal circulating sulfur amino acid concentration	191	AHCY	ORPHA:88618
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004339	Abnormal circulating sulfur amino acid concentration	132	ADK	OMIM:614300
HP:0004339	Abnormal circulating sulfur amino acid concentration	875	CBS	OMIM:236200
HP:0004339	Abnormal circulating sulfur amino acid concentration	4143	MAT1A	OMIM:250850
HP:0004339	Abnormal circulating sulfur amino acid concentration	2184	FAH	OMIM:276700
HP:0004339	Abnormal circulating sulfur amino acid concentration	27232	GNMT	OMIM:606664
HP:0004339	Abnormal circulating sulfur amino acid concentration	9652	SKIC3	OMIM:222470
HP:0004339	Abnormal circulating sulfur amino acid concentration	7019	TFAM	OMIM:617156
HP:0004339	Abnormal circulating sulfur amino acid concentration	10157	AASS	ORPHA:3124
HP:0004339	Abnormal circulating sulfur amino acid concentration	4780	NFE2L2	OMIM:617744
HP:0004339	Abnormal circulating sulfur amino acid concentration	10243	GPHN	OMIM:615501
HP:0004340	Abnormality of vitamin B metabolism	4552	MTRR	OMIM:236270
HP:0004340	Abnormality of vitamin B metabolism	197322	ACSF3	ORPHA:289504
HP:0004340	Abnormality of vitamin B metabolism	8802	SUCLG1	ORPHA:17
HP:0004340	Abnormality of vitamin B metabolism	8803	SUCLA2	OMIM:612073
HP:0004340	Abnormality of vitamin B metabolism	25974	MMACHC	ORPHA:79282
HP:0004340	Abnormality of vitamin B metabolism	25974	MMACHC	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	3054	HCFC1	OMIM:309541
HP:0004340	Abnormality of vitamin B metabolism	4329	ALDH6A1	OMIM:614105
HP:0004340	Abnormality of vitamin B metabolism	51293	CD320	OMIM:613646
HP:0004340	Abnormality of vitamin B metabolism	5826	ABCD4	OMIM:614857
HP:0004340	Abnormality of vitamin B metabolism	4548	MTR	OMIM:250940
HP:0004340	Abnormality of vitamin B metabolism	27249	MMADHC	OMIM:277410
HP:0004340	Abnormality of vitamin B metabolism	326625	MMAB	OMIM:251110
HP:0004340	Abnormality of vitamin B metabolism	4594	MMUT	OMIM:251000
HP:0004340	Abnormality of vitamin B metabolism	5052	PRDX1	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	166785	MMAA	OMIM:251100
HP:0004340	Abnormality of vitamin B metabolism	4522	MTHFD1	OMIM:617780
HP:0004340	Abnormality of vitamin B metabolism	595	CCND1	ORPHA:29073
HP:0004340	Abnormality of vitamin B metabolism	7276	TTR	OMIM:115430
HP:0004340	Abnormality of vitamin B metabolism	8659	ALDH4A1	ORPHA:79101
HP:0004340	Abnormality of vitamin B metabolism	50640	PNPLA8	OMIM:251950
HP:0004340	Abnormality of vitamin B metabolism	1719	DHFR	OMIM:613839
HP:0004340	Abnormality of vitamin B metabolism	6711	SPTBN1	OMIM:619475
HP:0004340	Abnormality of vitamin B metabolism	10841	FTCD	ORPHA:51208
HP:0004340	Abnormality of vitamin B metabolism	355	FAS	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	356	FASLG	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	5580	PRKCD	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	843	CASP10	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	10125	RASGRP1	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	6948	TCN2	OMIM:275350
HP:0004340	Abnormality of vitamin B metabolism	11342	RNF13	ORPHA:544503
HP:0004340	Abnormality of vitamin B metabolism	2917	GRM7	OMIM:618922
HP:0004340	Abnormality of vitamin B metabolism	55788	LMBRD1	ORPHA:79284
HP:0004340	Abnormality of vitamin B metabolism	6573	SLC19A1	OMIM:601775
HP:0004340	Abnormality of vitamin B metabolism	3117	HLA-DQA1	OMIM:212750
HP:0004340	Abnormality of vitamin B metabolism	3119	HLA-DQB1	OMIM:212750
HP:0004340	Abnormality of vitamin B metabolism	2984	GUCY2C	OMIM:614616
HP:0004340	Abnormality of vitamin B metabolism	215	ABCD1	ORPHA:139399
HP:0004340	Abnormality of vitamin B metabolism	6492	SIM1	ORPHA:369873
HP:0004340	Abnormality of vitamin B metabolism	1737	DLAT	ORPHA:79244
HP:0004340	Abnormality of vitamin B metabolism	55065	SLC52A1	OMIM:615026
HP:0004340	Abnormality of vitamin B metabolism	55593	OTUD5	OMIM:301056
HP:0004340	Abnormality of vitamin B metabolism	113235	SLC46A1	OMIM:229050
HP:0004340	Abnormality of vitamin B metabolism	374879	ZNF699	OMIM:619488
HP:0004340	Abnormality of vitamin B metabolism	8029	CUBN	ORPHA:35858
HP:0004340	Abnormality of vitamin B metabolism	8029	CUBN	OMIM:261100
HP:0004340	Abnormality of vitamin B metabolism	81693	AMN	ORPHA:35858
HP:0004340	Abnormality of vitamin B metabolism	2694	CBLIF	OMIM:261000
HP:0004341	Abnormality of vitamin B12 metabolism	197322	ACSF3	ORPHA:289504
HP:0004341	Abnormality of vitamin B12 metabolism	8802	SUCLG1	ORPHA:17
HP:0004341	Abnormality of vitamin B12 metabolism	8803	SUCLA2	OMIM:612073
HP:0004341	Abnormality of vitamin B12 metabolism	3054	HCFC1	OMIM:309541
HP:0004341	Abnormality of vitamin B12 metabolism	4329	ALDH6A1	OMIM:614105
HP:0004341	Abnormality of vitamin B12 metabolism	51293	CD320	OMIM:613646
HP:0004341	Abnormality of vitamin B12 metabolism	5826	ABCD4	OMIM:614857
HP:0004341	Abnormality of vitamin B12 metabolism	27249	MMADHC	OMIM:277410
HP:0004341	Abnormality of vitamin B12 metabolism	326625	MMAB	OMIM:251110
HP:0004341	Abnormality of vitamin B12 metabolism	25974	MMACHC	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	5052	PRDX1	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	166785	MMAA	OMIM:251100
HP:0004341	Abnormality of vitamin B12 metabolism	4552	MTRR	OMIM:236270
HP:0004341	Abnormality of vitamin B12 metabolism	4522	MTHFD1	OMIM:617780
HP:0004341	Abnormality of vitamin B12 metabolism	4548	MTR	OMIM:250940
HP:0004341	Abnormality of vitamin B12 metabolism	595	CCND1	ORPHA:29073
HP:0004341	Abnormality of vitamin B12 metabolism	355	FAS	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	356	FASLG	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	5580	PRKCD	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	843	CASP10	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	10125	RASGRP1	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	6948	TCN2	OMIM:275350
HP:0004341	Abnormality of vitamin B12 metabolism	11342	RNF13	ORPHA:544503
HP:0004341	Abnormality of vitamin B12 metabolism	4594	MMUT	OMIM:251000
HP:0004341	Abnormality of vitamin B12 metabolism	8029	CUBN	ORPHA:35858
HP:0004341	Abnormality of vitamin B12 metabolism	8029	CUBN	OMIM:261100
HP:0004341	Abnormality of vitamin B12 metabolism	81693	AMN	ORPHA:35858
HP:0004341	Abnormality of vitamin B12 metabolism	81693	AMN	OMIM:618882
HP:0004341	Abnormality of vitamin B12 metabolism	2917	GRM7	OMIM:618922
HP:0004341	Abnormality of vitamin B12 metabolism	55788	LMBRD1	ORPHA:79284
HP:0004341	Abnormality of vitamin B12 metabolism	6573	SLC19A1	OMIM:601775
HP:0004341	Abnormality of vitamin B12 metabolism	3117	HLA-DQA1	OMIM:212750
HP:0004341	Abnormality of vitamin B12 metabolism	3119	HLA-DQB1	OMIM:212750
HP:0004341	Abnormality of vitamin B12 metabolism	2984	GUCY2C	OMIM:614616
HP:0004341	Abnormality of vitamin B12 metabolism	215	ABCD1	ORPHA:139399
HP:0004341	Abnormality of vitamin B12 metabolism	2694	CBLIF	OMIM:261000
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	OMIM:253010
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	OMIM:230650
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	OMIM:230500
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	OMIM:230600
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	ORPHA:79255
HP:0004342	Abnormality of galactoside metabolism	5476	CTSA	OMIM:256540
HP:0004342	Abnormality of galactoside metabolism	2582	GALE	OMIM:230350
HP:0004343	Abnormal glycosphingolipid metabolism	3073	HEXA	OMIM:272800
HP:0004343	Abnormal glycosphingolipid metabolism	2760	GM2A	OMIM:272750
HP:0004343	Abnormal glycosphingolipid metabolism	410	ARSA	ORPHA:309271
HP:0004343	Abnormal glycosphingolipid metabolism	410	ARSA	ORPHA:309263
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	ORPHA:309271
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	OMIM:611721
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	ORPHA:309263
HP:0004343	Abnormal glycosphingolipid metabolism	3074	HEXB	OMIM:268800
HP:0004343	Abnormal glycosphingolipid metabolism	57192	MCOLN1	ORPHA:578
HP:0004343	Abnormal glycosphingolipid metabolism	57192	MCOLN1	OMIM:252650
HP:0004343	Abnormal glycosphingolipid metabolism	2717	GLA	OMIM:301500
HP:0004345	Ganglioside accumulation	3073	HEXA	OMIM:272800
HP:0004345	Ganglioside accumulation	2760	GM2A	OMIM:272750
HP:0004345	Ganglioside accumulation	57192	MCOLN1	ORPHA:578
HP:0004345	Ganglioside accumulation	57192	MCOLN1	OMIM:252650
HP:0004347	Weakness of muscles of respiration	210	ALAD	OMIM:612740
HP:0004347	Weakness of muscles of respiration	6329	SCN4A	ORPHA:681
HP:0004347	Weakness of muscles of respiration	779	CACNA1S	ORPHA:681
HP:0004347	Weakness of muscles of respiration	779	CACNA1S	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	10008	KCNE3	ORPHA:681
HP:0004347	Weakness of muscles of respiration	5498	PPOX	ORPHA:79473
HP:0004347	Weakness of muscles of respiration	100134444	KCNJ18	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	2556	GABRA3	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	1371	CPOX	OMIM:121300
HP:0004347	Weakness of muscles of respiration	4359	MPZ	OMIM:618184
HP:0004347	Weakness of muscles of respiration	2673	GFPT1	OMIM:608931
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	OMIM:608931
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	OMIM:605809
HP:0004347	Weakness of muscles of respiration	1410	CRYAB	OMIM:608810
HP:0004347	Weakness of muscles of respiration	1410	CRYAB	ORPHA:399058
HP:0004347	Weakness of muscles of respiration	4574	MT-TS1	OMIM:220110
HP:0004347	Weakness of muscles of respiration	4574	MT-TS1	ORPHA:663
HP:0004347	Weakness of muscles of respiration	4570	MT-TN	OMIM:220110
HP:0004347	Weakness of muscles of respiration	4570	MT-TN	ORPHA:663
HP:0004347	Weakness of muscles of respiration	6834	SURF1	OMIM:220110
HP:0004347	Weakness of muscles of respiration	56203	LMOD3	OMIM:616165
HP:0004347	Weakness of muscles of respiration	7167	TPI1	OMIM:615512
HP:0004347	Weakness of muscles of respiration	50484	RRM2B	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	246243	RNASEH1	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	9782	MATR3	OMIM:606070
HP:0004347	Weakness of muscles of respiration	9782	MATR3	ORPHA:600
HP:0004347	Weakness of muscles of respiration	2066	ERBB4	OMIM:615515
HP:0004347	Weakness of muscles of respiration	1756	DMD	OMIM:310200
HP:0004347	Weakness of muscles of respiration	84334	COA8	ORPHA:436271
HP:0004347	Weakness of muscles of respiration	5428	POLG	OMIM:258450
HP:0004347	Weakness of muscles of respiration	1134	CHRNA1	OMIM:608930
HP:0004347	Weakness of muscles of respiration	4703	NEB	OMIM:256030
HP:0004347	Weakness of muscles of respiration	4703	NEB	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	274	BIN1	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	274	BIN1	OMIM:255200
HP:0004347	Weakness of muscles of respiration	64419	MTMR14	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	4618	MYF6	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	1785	DNM2	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:424107
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:597
HP:0004347	Weakness of muscles of respiration	4568	MT-TL2	ORPHA:663
HP:0004347	Weakness of muscles of respiration	4567	MT-TL1	ORPHA:663
HP:0004347	Weakness of muscles of respiration	7273	TTN	ORPHA:178464
HP:0004347	Weakness of muscles of respiration	22880	MORC2	ORPHA:466768
HP:0004347	Weakness of muscles of respiration	84197	POMK	OMIM:615249
HP:0004347	Weakness of muscles of respiration	427	ASAH1	OMIM:159950
HP:0004347	Weakness of muscles of respiration	427	ASAH1	ORPHA:2590
HP:0004347	Weakness of muscles of respiration	7084	TK2	ORPHA:254875
HP:0004347	Weakness of muscles of respiration	7084	TK2	OMIM:609560
HP:0004347	Weakness of muscles of respiration	1272	CNTN1	OMIM:612540
HP:0004347	Weakness of muscles of respiration	84876	ORAI1	OMIM:612782
HP:0004347	Weakness of muscles of respiration	29967	LRP12	OMIM:164310
HP:0004347	Weakness of muscles of respiration	80208	SPG11	OMIM:602099
HP:0004347	Weakness of muscles of respiration	7317	UBA1	OMIM:301830
HP:0004347	Weakness of muscles of respiration	127833	SYT2	OMIM:619461
HP:0004347	Weakness of muscles of respiration	57449	PLEKHG5	OMIM:611067
HP:0004347	Weakness of muscles of respiration	4632	MYL1	OMIM:618414
HP:0004347	Weakness of muscles of respiration	10755	GIPC1	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	100996717	NOTCH2NLC	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	1103	CHAT	OMIM:254210
HP:0004347	Weakness of muscles of respiration	2548	GAA	OMIM:232300
HP:0004347	Weakness of muscles of respiration	2548	GAA	ORPHA:308552
HP:0004347	Weakness of muscles of respiration	2318	FLNC	ORPHA:63273
HP:0004347	Weakness of muscles of respiration	92667	MGME1	ORPHA:352447
HP:0004347	Weakness of muscles of respiration	9325	TRIP4	OMIM:617066
HP:0004347	Weakness of muscles of respiration	9325	TRIP4	ORPHA:486815
HP:0004347	Weakness of muscles of respiration	291	SLC25A4	OMIM:617184
HP:0004347	Weakness of muscles of respiration	1674	DES	OMIM:601419
HP:0004347	Weakness of muscles of respiration	1674	DES	ORPHA:98909
HP:0004347	Weakness of muscles of respiration	23287	AGTPBP1	OMIM:618276
HP:0004347	Weakness of muscles of respiration	2273	FHL1	OMIM:300718
HP:0004347	Weakness of muscles of respiration	2273	FHL1	OMIM:300717
HP:0004347	Weakness of muscles of respiration	2273	FHL1	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	51244	CCDC174	OMIM:616816
HP:0004347	Weakness of muscles of respiration	8292	COLQ	OMIM:603034
HP:0004347	Weakness of muscles of respiration	51	ACOX1	OMIM:618960
HP:0004347	Weakness of muscles of respiration	2733	GLE1	OMIM:611890
HP:0004347	Weakness of muscles of respiration	23435	TARDBP	OMIM:612069
HP:0004347	Weakness of muscles of respiration	84665	MYPN	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	390594	KBTBD13	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	10324	KLHL41	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	55681	SCYL2	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	84570	COL25A1	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	57222	ERGIC1	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	1073	CFL2	OMIM:610687
HP:0004347	Weakness of muscles of respiration	7138	TNNT1	ORPHA:98902
HP:0004347	Weakness of muscles of respiration	2010	EMD	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	23299	BICD2	OMIM:618291
HP:0004347	Weakness of muscles of respiration	23676	SMPX	OMIM:301075
HP:0004347	Weakness of muscles of respiration	3908	LAMA2	OMIM:607855
HP:0004347	Weakness of muscles of respiration	9927	MFN2	OMIM:617087
HP:0004347	Weakness of muscles of respiration	8803	SUCLA2	OMIM:612073
HP:0004347	Weakness of muscles of respiration	51067	YARS2	OMIM:613561
HP:0004347	Weakness of muscles of respiration	9131	AIFM1	OMIM:300816
HP:0004347	Weakness of muscles of respiration	5081	PAX7	OMIM:618578
HP:0004347	Weakness of muscles of respiration	8291	DYSF	ORPHA:45448
HP:0004347	Weakness of muscles of respiration	4000	LMNA	OMIM:613205
HP:0004347	Weakness of muscles of respiration	4000	LMNA	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23534	TNPO3	OMIM:608423
HP:0004347	Weakness of muscles of respiration	285489	DOK7	OMIM:254300
HP:0004347	Weakness of muscles of respiration	54808	DYM	ORPHA:239
HP:0004347	Weakness of muscles of respiration	79188	TMEM43	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23345	SYNE1	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23224	SYNE2	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	57190	SELENON	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	58	ACTA1	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	4633	MYL2	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	3679	ITGA7	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	7169	TPM2	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	9200	HACD1	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	7170	TPM3	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	51776	MAP3K20	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	3145	HMBS	ORPHA:79276
HP:0004347	Weakness of muscles of respiration	3178	HNRNPA1	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	7415	VCP	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	3181	HNRNPA2B1	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	4625	MYH7	ORPHA:324604
HP:0004347	Weakness of muscles of respiration	60482	SLC5A7	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	4649	MYO9A	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	1305	COL13A1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6576	SLC25A1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6843	VAMP1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	375790	AGRN	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6572	SLC18A3	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6616	SNAP25	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	9499	MYOT	ORPHA:266
HP:0004347	Weakness of muscles of respiration	1303	COL12A1	ORPHA:610
HP:0004347	Weakness of muscles of respiration	1291	COL6A1	ORPHA:610
HP:0004347	Weakness of muscles of respiration	1292	COL6A2	ORPHA:610
HP:0004347	Weakness of muscles of respiration	1293	COL6A3	ORPHA:610
HP:0004348	Abnormality of bone mineral density	6448	SGSH	OMIM:252900
HP:0004348	Abnormality of bone mineral density	138050	HGSNAT	OMIM:252930
HP:0004348	Abnormality of bone mineral density	4669	NAGLU	OMIM:252920
HP:0004348	Abnormality of bone mineral density	55503	TRPV6	OMIM:618188
HP:0004348	Abnormality of bone mineral density	8425	LTBP4	OMIM:613177
HP:0004348	Abnormality of bone mineral density	51126	NAA20	OMIM:619717
HP:0004348	Abnormality of bone mineral density	7355	SLC35A2	ORPHA:356961
HP:0004348	Abnormality of bone mineral density	3190	HNRNPK	ORPHA:453504
HP:0004348	Abnormality of bone mineral density	3190	HNRNPK	ORPHA:352665
HP:0004348	Abnormality of bone mineral density	54209	TREM2	OMIM:618193
HP:0004348	Abnormality of bone mineral density	4125	MAN2B1	ORPHA:309282
HP:0004348	Abnormality of bone mineral density	4125	MAN2B1	ORPHA:309288
HP:0004348	Abnormality of bone mineral density	8443	GNPAT	OMIM:222765
HP:0004348	Abnormality of bone mineral density	2201	FBN2	OMIM:121050
HP:0004348	Abnormality of bone mineral density	4882	NPR2	OMIM:615923
HP:0004348	Abnormality of bone mineral density	79158	GNPTAB	OMIM:252500
HP:0004348	Abnormality of bone mineral density	9382	COG1	OMIM:611209
HP:0004348	Abnormality of bone mineral density	9382	COG1	ORPHA:263508
HP:0004348	Abnormality of bone mineral density	134218	DNAJC21	ORPHA:811
HP:0004348	Abnormality of bone mineral density	79631	EFL1	ORPHA:811
HP:0004348	Abnormality of bone mineral density	51119	SBDS	ORPHA:811
HP:0004348	Abnormality of bone mineral density	6729	SRP54	ORPHA:811
HP:0004348	Abnormality of bone mineral density	6729	SRP54	ORPHA:486
HP:0004348	Abnormality of bone mineral density	64175	P3H1	OMIM:610915
HP:0004348	Abnormality of bone mineral density	7125	TNNC2	OMIM:620161
HP:0004348	Abnormality of bone mineral density	3899	AFF3	OMIM:619297
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2	ORPHA:2834
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2	OMIM:278250
HP:0004348	Abnormality of bone mineral density	90993	CREB3L1	OMIM:616229
HP:0004348	Abnormality of bone mineral density	1289	COL5A1	ORPHA:287
HP:0004348	Abnormality of bone mineral density	1290	COL5A2	ORPHA:287
HP:0004348	Abnormality of bone mineral density	10484	SEC23A	OMIM:607812
HP:0004348	Abnormality of bone mineral density	8726	EED	OMIM:617561
HP:0004348	Abnormality of bone mineral density	1028	CDKN1C	OMIM:614732
HP:0004348	Abnormality of bone mineral density	8642	DCHS1	OMIM:601390
HP:0004348	Abnormality of bone mineral density	8642	DCHS1	ORPHA:314679
HP:0004348	Abnormality of bone mineral density	4247	MGAT2	OMIM:212066
HP:0004348	Abnormality of bone mineral density	4247	MGAT2	ORPHA:79329
HP:0004348	Abnormality of bone mineral density	1576	CYP3A4	OMIM:619073
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7	OMIM:130070
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7	ORPHA:75496
HP:0004348	Abnormality of bone mineral density	595	CCND1	ORPHA:29073
HP:0004348	Abnormality of bone mineral density	5034	P4HB	OMIM:112240
HP:0004348	Abnormality of bone mineral density	55699	IARS2	OMIM:616007
HP:0004348	Abnormality of bone mineral density	8239	USP9X	ORPHA:480880
HP:0004348	Abnormality of bone mineral density	285175	UNC80	OMIM:616801
HP:0004348	Abnormality of bone mineral density	1650	DDOST	OMIM:614507
HP:0004348	Abnormality of bone mineral density	1650	DDOST	ORPHA:300536
HP:0004348	Abnormality of bone mineral density	80067	DCAF17	ORPHA:3464
HP:0004348	Abnormality of bone mineral density	84992	PIGY	OMIM:616809
HP:0004348	Abnormality of bone mineral density	79759	ZNF668	OMIM:620194
HP:0004348	Abnormality of bone mineral density	79991	STN1	OMIM:617341
HP:0004348	Abnormality of bone mineral density	6774	STAT3	OMIM:147060
HP:0004348	Abnormality of bone mineral density	6774	STAT3	ORPHA:2314
HP:0004348	Abnormality of bone mineral density	9276	COPB2	OMIM:619884
HP:0004348	Abnormality of bone mineral density	3911	LAMA5	OMIM:620076
HP:0004348	Abnormality of bone mineral density	11128	POLR3A	ORPHA:3455
HP:0004348	Abnormality of bone mineral density	3187	HNRNPH1	OMIM:620083
HP:0004348	Abnormality of bone mineral density	54941	RNF125	OMIM:616260
HP:0004348	Abnormality of bone mineral density	79989	IFT56	OMIM:619534
HP:0004348	Abnormality of bone mineral density	6603	SMARCD2	OMIM:617475
HP:0004348	Abnormality of bone mineral density	10516	FBLN5	ORPHA:90348
HP:0004348	Abnormality of bone mineral density	5832	ALDH18A1	ORPHA:90348
HP:0004348	Abnormality of bone mineral density	5832	ALDH18A1	OMIM:616603
HP:0004348	Abnormality of bone mineral density	50628	GEMIN4	OMIM:617913
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8	ORPHA:468699
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8	OMIM:616721
HP:0004348	Abnormality of bone mineral density	10195	ALG3	ORPHA:79321
HP:0004348	Abnormality of bone mineral density	387733	IFITM5	OMIM:610967
HP:0004348	Abnormality of bone mineral density	1991	ELANE	ORPHA:486
HP:0004348	Abnormality of bone mineral density	2672	GFI1	ORPHA:486
HP:0004348	Abnormality of bone mineral density	81570	CLPB	ORPHA:486
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13	ORPHA:157965
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13	OMIM:612350
HP:0004348	Abnormality of bone mineral density	9742	IFT140	OMIM:266920
HP:0004348	Abnormality of bone mineral density	55151	TMEM38B	OMIM:615066
HP:0004348	Abnormality of bone mineral density	203859	ANO5	OMIM:166260
HP:0004348	Abnormality of bone mineral density	203859	ANO5	ORPHA:53697
HP:0004348	Abnormality of bone mineral density	5426	POLE	OMIM:618336
HP:0004348	Abnormality of bone mineral density	2200	FBN1	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	6497	SKI	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	6497	SKI	OMIM:182212
HP:0004348	Abnormality of bone mineral density	90417	KNSTRN	OMIM:613328
HP:0004348	Abnormality of bone mineral density	90417	KNSTRN	ORPHA:221139
HP:0004348	Abnormality of bone mineral density	5293	PIK3CD	OMIM:613328
HP:0004348	Abnormality of bone mineral density	5293	PIK3CD	ORPHA:221139
HP:0004348	Abnormality of bone mineral density	865	CBFB	OMIM:620099
HP:0004348	Abnormality of bone mineral density	8818	DPM2	ORPHA:329178
HP:0004348	Abnormality of bone mineral density	89970	RSPRY1	OMIM:616723
HP:0004348	Abnormality of bone mineral density	89970	RSPRY1	ORPHA:457395
HP:0004348	Abnormality of bone mineral density	128869	PIGU	OMIM:618590
HP:0004348	Abnormality of bone mineral density	9871	SEC24D	OMIM:616294
HP:0004348	Abnormality of bone mineral density	6809	STX3	OMIM:619445
HP:0004348	Abnormality of bone mineral density	6809	STX3	OMIM:619446
HP:0004348	Abnormality of bone mineral density	57520	HECW2	OMIM:617268
HP:0004348	Abnormality of bone mineral density	23586	RIGI	OMIM:616298
HP:0004348	Abnormality of bone mineral density	169792	GLIS3	OMIM:610199
HP:0004348	Abnormality of bone mineral density	55033	FKBP14	OMIM:614557
HP:0004348	Abnormality of bone mineral density	55033	FKBP14	ORPHA:300179
HP:0004348	Abnormality of bone mineral density	2530	FUT8	OMIM:618005
HP:0004348	Abnormality of bone mineral density	10265	IRX5	OMIM:611174
HP:0004348	Abnormality of bone mineral density	551	AVP	OMIM:125700
HP:0004348	Abnormality of bone mineral density	26146	TRAF3IP1	OMIM:616629
HP:0004348	Abnormality of bone mineral density	55750	AGK	OMIM:212350
HP:0004348	Abnormality of bone mineral density	4547	MTTP	ORPHA:14
HP:0004348	Abnormality of bone mineral density	6557	SLC12A1	OMIM:601678
HP:0004348	Abnormality of bone mineral density	4507	MTAP	OMIM:112250
HP:0004348	Abnormality of bone mineral density	3758	KCNJ1	OMIM:241200
HP:0004348	Abnormality of bone mineral density	8985	PLOD3	OMIM:612394
HP:0004348	Abnormality of bone mineral density	9419	CRIPT	OMIM:615789
HP:0004348	Abnormality of bone mineral density	84701	COX4I2	OMIM:612714
HP:0004348	Abnormality of bone mineral density	5660	PSAP	OMIM:610539
HP:0004348	Abnormality of bone mineral density	10664	CTCF	ORPHA:363611
HP:0004348	Abnormality of bone mineral density	51360	MBTPS2	OMIM:301014
HP:0004348	Abnormality of bone mineral density	6872	TAF1	OMIM:300966
HP:0004348	Abnormality of bone mineral density	374879	ZNF699	OMIM:619488
HP:0004348	Abnormality of bone mineral density	60676	PAPPA2	OMIM:619489
HP:0004348	Abnormality of bone mineral density	10651	MTX2	OMIM:619127
HP:0004348	Abnormality of bone mineral density	51124	IER3IP1	OMIM:614231
HP:0004348	Abnormality of bone mineral density	202018	TAPT1	OMIM:616897
HP:0004348	Abnormality of bone mineral density	3557	IL1RN	OMIM:612852
HP:0004348	Abnormality of bone mineral density	50485	SMARCAL1	OMIM:242900
HP:0004348	Abnormality of bone mineral density	6554	SLC10A1	OMIM:619256
HP:0004348	Abnormality of bone mineral density	26503	SLC17A5	OMIM:269920
HP:0004348	Abnormality of bone mineral density	4668	NAGA	OMIM:609241
HP:0004348	Abnormality of bone mineral density	10491	CRTAP	OMIM:610682
HP:0004348	Abnormality of bone mineral density	4194	MDM4	OMIM:618849
HP:0004348	Abnormality of bone mineral density	10269	ZMPSTE24	ORPHA:1662
HP:0004348	Abnormality of bone mineral density	2263	FGFR2	ORPHA:313855
HP:0004348	Abnormality of bone mineral density	375056	MIA3	OMIM:619269
HP:0004348	Abnormality of bone mineral density	9935	MAFB	OMIM:166300
HP:0004348	Abnormality of bone mineral density	25886	POC1A	OMIM:614813
HP:0004348	Abnormality of bone mineral density	871	SERPINH1	OMIM:613848
HP:0004348	Abnormality of bone mineral density	171023	ASXL1	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	171023	ASXL1	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	54790	TET2	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	54790	TET2	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	867	CBL	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	861	RUNX1	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	6427	SRSF2	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	6427	SRSF2	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	83932	SPRTN	OMIM:616200
HP:0004348	Abnormality of bone mineral density	2100	ESR2	OMIM:618187
HP:0004348	Abnormality of bone mineral density	4010	LMX1B	ORPHA:2614
HP:0004348	Abnormality of bone mineral density	6938	TCF12	OMIM:619718
HP:0004348	Abnormality of bone mineral density	1593	CYP27A1	OMIM:213700
HP:0004348	Abnormality of bone mineral density	1593	CYP27A1	ORPHA:909
HP:0004348	Abnormality of bone mineral density	3815	KIT	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	64682	ANAPC1	OMIM:618625
HP:0004348	Abnormality of bone mineral density	1736	DKC1	OMIM:305000
HP:0004348	Abnormality of bone mineral density	1736	DKC1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	2542	SLC37A4	OMIM:232220
HP:0004348	Abnormality of bone mineral density	2542	SLC37A4	OMIM:619525
HP:0004348	Abnormality of bone mineral density	2542	SLC37A4	ORPHA:79259
HP:0004348	Abnormality of bone mineral density	91147	TMEM67	OMIM:602152
HP:0004348	Abnormality of bone mineral density	9401	RECQL4	OMIM:268400
HP:0004348	Abnormality of bone mineral density	3909	LAMA3	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	3918	LAMC2	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	3914	LAMB3	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	4784	NFIX	ORPHA:447980
HP:0004348	Abnormality of bone mineral density	4312	MMP1	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	1294	COL7A1	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	1528	CYB5A	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	1586	CYP17A1	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	64072	CDH23	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	64072	CDH23	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	64072	CDH23	ORPHA:91347
HP:0004348	Abnormality of bone mineral density	9049	AIP	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	9049	AIP	OMIM:219090
HP:0004348	Abnormality of bone mineral density	4552	MTRR	ORPHA:2169
HP:0004348	Abnormality of bone mineral density	50940	PDE11A	OMIM:610475
HP:0004348	Abnormality of bone mineral density	50940	PDE11A	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	10216	PRG4	ORPHA:2848
HP:0004348	Abnormality of bone mineral density	26012	NSMF	OMIM:614838
HP:0004348	Abnormality of bone mineral density	26012	NSMF	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3764	KCNJ8	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	10060	ABCC9	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	10060	ABCC9	OMIM:239850
HP:0004348	Abnormality of bone mineral density	7015	TERT	OMIM:613989
HP:0004348	Abnormality of bone mineral density	7015	TERT	OMIM:127550
HP:0004348	Abnormality of bone mineral density	7015	TERT	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	57539	WDR35	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	112752	IFT43	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	51098	IFT52	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	55764	IFT122	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	55764	IFT122	OMIM:218330
HP:0004348	Abnormality of bone mineral density	57728	WDR19	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	535	ATP6V0A1	OMIM:619971
HP:0004348	Abnormality of bone mineral density	2859	GPR35	ORPHA:171
HP:0004348	Abnormality of bone mineral density	10507	SEMA4D	ORPHA:171
HP:0004348	Abnormality of bone mineral density	4485	MST1	ORPHA:171
HP:0004348	Abnormality of bone mineral density	6925	TCF4	ORPHA:171
HP:0004348	Abnormality of bone mineral density	54453	RIN2	OMIM:613075
HP:0004348	Abnormality of bone mineral density	26277	TINF2	OMIM:613990
HP:0004348	Abnormality of bone mineral density	26277	TINF2	OMIM:127550
HP:0004348	Abnormality of bone mineral density	26277	TINF2	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2	OMIM:102500
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2	ORPHA:955
HP:0004348	Abnormality of bone mineral density	2538	G6PC1	OMIM:232200
HP:0004348	Abnormality of bone mineral density	5573	PRKAR1A	OMIM:610489
HP:0004348	Abnormality of bone mineral density	5573	PRKAR1A	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	55858	TMEM165	OMIM:614727
HP:0004348	Abnormality of bone mineral density	5095	PCCA	OMIM:606054
HP:0004348	Abnormality of bone mineral density	5096	PCCB	OMIM:606054
HP:0004348	Abnormality of bone mineral density	4313	MMP2	ORPHA:371428
HP:0004348	Abnormality of bone mineral density	4313	MMP2	OMIM:259600
HP:0004348	Abnormality of bone mineral density	10815	CPLX1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	54872	PIGG	ORPHA:280
HP:0004348	Abnormality of bone mineral density	7469	NELFA	ORPHA:280
HP:0004348	Abnormality of bone mineral density	1487	CTBP1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	3954	LETM1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	7468	NSD2	ORPHA:280
HP:0004348	Abnormality of bone mineral density	5424	POLD1	OMIM:615381
HP:0004348	Abnormality of bone mineral density	1848	DUSP6	OMIM:615269
HP:0004348	Abnormality of bone mineral density	1848	DUSP6	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2720	GLB1	OMIM:253010
HP:0004348	Abnormality of bone mineral density	54756	IL17RD	OMIM:615267
HP:0004348	Abnormality of bone mineral density	93627	TBCK	ORPHA:488632
HP:0004348	Abnormality of bone mineral density	7471	WNT1	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	22943	DKK1	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	89780	WNT3A	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	6662	SOX9	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	6845	VAMP7	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	51741	WWOX	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	4214	MAP3K1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	7490	WT1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	58524	DMRT3	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	57647	DHX37	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	6736	SRY	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	23414	ZFPM2	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	190	NR0B1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	2626	GATA4	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	64132	XYLT2	ORPHA:85194
HP:0004348	Abnormality of bone mineral density	1588	CYP19A1	ORPHA:91
HP:0004348	Abnormality of bone mineral density	3043	HBB	ORPHA:232
HP:0004348	Abnormality of bone mineral density	3043	HBB	ORPHA:231214
HP:0004348	Abnormality of bone mineral density	3043	HBB	ORPHA:231222
HP:0004348	Abnormality of bone mineral density	3043	HBB	ORPHA:231226
HP:0004348	Abnormality of bone mineral density	1798	DPAGT1	ORPHA:86309
HP:0004348	Abnormality of bone mineral density	9056	SLC7A7	ORPHA:470
HP:0004348	Abnormality of bone mineral density	9056	SLC7A7	OMIM:222700
HP:0004348	Abnormality of bone mineral density	8822	FGF17	OMIM:615270
HP:0004348	Abnormality of bone mineral density	8822	FGF17	ORPHA:432
HP:0004348	Abnormality of bone mineral density	23767	FLRT3	OMIM:615271
HP:0004348	Abnormality of bone mineral density	51604	PIGT	OMIM:615398
HP:0004348	Abnormality of bone mineral density	213	ALB	OMIM:616000
HP:0004348	Abnormality of bone mineral density	5566	PRKACA	OMIM:615830
HP:0004348	Abnormality of bone mineral density	5566	PRKACA	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	6135	RPL11	OMIM:612562
HP:0004348	Abnormality of bone mineral density	79633	FAT4	OMIM:616006
HP:0004348	Abnormality of bone mineral density	8622	PDE8B	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	79798	ARMC5	OMIM:615954
HP:0004348	Abnormality of bone mineral density	79798	ARMC5	ORPHA:189427
HP:0004348	Abnormality of bone mineral density	5428	POLG	OMIM:203700
HP:0004348	Abnormality of bone mineral density	5428	POLG	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	6134	RPL10	ORPHA:459070
HP:0004348	Abnormality of bone mineral density	6134	RPL10	OMIM:300998
HP:0004348	Abnormality of bone mineral density	799	CALCR	OMIM:166710
HP:0004348	Abnormality of bone mineral density	8572	PDLIM4	OMIM:166710
HP:0004348	Abnormality of bone mineral density	6609	SMPD1	OMIM:257200
HP:0004348	Abnormality of bone mineral density	6609	SMPD1	ORPHA:77293
HP:0004348	Abnormality of bone mineral density	4040	LRP6	OMIM:610947
HP:0004348	Abnormality of bone mineral density	2947	GSTM3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	2729	GCLC	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1084	CEACAM3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	6556	SLC11A1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	51164	DCTN4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3783	KCNN4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	4282	MIF	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1909	EDNRA	ORPHA:586
HP:0004348	Abnormality of bone mineral density	6550	SLC9A3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3162	HMOX1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	115019	SLC26A9	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3077	HFE	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3077	HFE	ORPHA:465508
HP:0004348	Abnormality of bone mineral density	3077	HFE	OMIM:235200
HP:0004348	Abnormality of bone mineral density	11254	SLC6A14	ORPHA:586
HP:0004348	Abnormality of bone mineral density	5265	SERPINA1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1080	CFTR	ORPHA:586
HP:0004348	Abnormality of bone mineral density	22802	CLCA4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	4680	CEACAM6	ORPHA:586
HP:0004348	Abnormality of bone mineral density	9321	TRIP11	OMIM:184260
HP:0004348	Abnormality of bone mineral density	8733	GPAA1	ORPHA:529665
HP:0004348	Abnormality of bone mineral density	5159	PDGFRB	OMIM:601812
HP:0004348	Abnormality of bone mineral density	6714	SRC	OMIM:616937
HP:0004348	Abnormality of bone mineral density	124583	CANT1	OMIM:251450
HP:0004348	Abnormality of bone mineral density	11107	PRDM5	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	84627	ZNF469	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	OMIM:176270
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:398069
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	9968	MED12	OMIM:301068
HP:0004348	Abnormality of bone mineral density	5373	PMM2	ORPHA:79318
HP:0004348	Abnormality of bone mineral density	5618	PRLR	ORPHA:397685
HP:0004348	Abnormality of bone mineral density	9394	HS6ST1	OMIM:614880
HP:0004348	Abnormality of bone mineral density	9394	HS6ST1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3977	LIFR	ORPHA:3206
HP:0004348	Abnormality of bone mineral density	3977	LIFR	OMIM:601559
HP:0004348	Abnormality of bone mineral density	55275	VPS53	OMIM:615851
HP:0004348	Abnormality of bone mineral density	6611	SMS	OMIM:309583
HP:0004348	Abnormality of bone mineral density	6611	SMS	ORPHA:3063
HP:0004348	Abnormality of bone mineral density	654	BMP6	ORPHA:465508
HP:0004348	Abnormality of bone mineral density	7048	TGFBR2	OMIM:610168
HP:0004348	Abnormality of bone mineral density	5836	PYGL	ORPHA:369
HP:0004348	Abnormality of bone mineral density	5256	PHKA2	ORPHA:264580
HP:0004348	Abnormality of bone mineral density	5261	PHKG2	ORPHA:264580
HP:0004348	Abnormality of bone mineral density	93587	TRMT10A	OMIM:616033
HP:0004348	Abnormality of bone mineral density	284119	CAVIN1	OMIM:613327
HP:0004348	Abnormality of bone mineral density	6309	SC5D	OMIM:607330
HP:0004348	Abnormality of bone mineral density	3479	IGF1	ORPHA:73272
HP:0004348	Abnormality of bone mineral density	4088	SMAD3	ORPHA:284984
HP:0004348	Abnormality of bone mineral density	291	SLC25A4	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	56652	TWNK	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	11232	POLG2	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	2260	FGFR1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	81848	SPRY4	ORPHA:432
HP:0004348	Abnormality of bone mineral density	128674	PROKR2	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2253	FGF8	ORPHA:432
HP:0004348	Abnormality of bone mineral density	60675	PROK2	ORPHA:432
HP:0004348	Abnormality of bone mineral density	60675	PROK2	OMIM:610628
HP:0004348	Abnormality of bone mineral density	55636	CHD7	ORPHA:432
HP:0004348	Abnormality of bone mineral density	6870	TACR3	ORPHA:432
HP:0004348	Abnormality of bone mineral density	55717	WDR11	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2796	GNRH1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2798	GNRHR	ORPHA:432
HP:0004348	Abnormality of bone mineral density	84634	KISS1R	ORPHA:432
HP:0004348	Abnormality of bone mineral density	6866	TAC3	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3814	KISS1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	5351	PLOD1	OMIM:225400
HP:0004348	Abnormality of bone mineral density	5351	PLOD1	ORPHA:1900
HP:0004348	Abnormality of bone mineral density	5193	PEX12	OMIM:266510
HP:0004348	Abnormality of bone mineral density	7681	MKRN3	OMIM:176270
HP:0004348	Abnormality of bone mineral density	3653	IPW	OMIM:176270
HP:0004348	Abnormality of bone mineral density	791114	PWRN1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	100033413	SNORD116-1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	8924	HERC2	OMIM:176270
HP:0004348	Abnormality of bone mineral density	145624	PWAR1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	23742	NPAP1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	338433	SNORD115-1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	2099	ESR1	ORPHA:785
HP:0004348	Abnormality of bone mineral density	51103	NDUFAF1	OMIM:618234
HP:0004348	Abnormality of bone mineral density	6492	SIM1	ORPHA:398079
HP:0004348	Abnormality of bone mineral density	5831	PYCR1	OMIM:614438
HP:0004348	Abnormality of bone mineral density	5831	PYCR1	ORPHA:2078
HP:0004348	Abnormality of bone mineral density	7012	TERC	OMIM:127550
HP:0004348	Abnormality of bone mineral density	7012	TERC	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	2710	GK	OMIM:307030
HP:0004348	Abnormality of bone mineral density	2592	GALT	ORPHA:79239
HP:0004348	Abnormality of bone mineral density	64135	IFIH1	OMIM:182250
HP:0004348	Abnormality of bone mineral density	427	ASAH1	ORPHA:333
HP:0004348	Abnormality of bone mineral density	84196	USP48	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	7157	TP53	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	9101	USP8	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	9101	USP8	OMIM:219090
HP:0004348	Abnormality of bone mineral density	2908	NR3C1	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	673	BRAF	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	546	ATRX	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	22930	RAB3GAP1	OMIM:600118
HP:0004348	Abnormality of bone mineral density	165	AEBP1	OMIM:618000
HP:0004348	Abnormality of bone mineral density	5257	PHKB	ORPHA:79240
HP:0004348	Abnormality of bone mineral density	92344	GORAB	OMIM:231070
HP:0004348	Abnormality of bone mineral density	92344	GORAB	ORPHA:2078
HP:0004348	Abnormality of bone mineral density	6678	SPARC	OMIM:616507
HP:0004348	Abnormality of bone mineral density	3248	HPGD	ORPHA:2796
HP:0004348	Abnormality of bone mineral density	3248	HPGD	OMIM:259100
HP:0004348	Abnormality of bone mineral density	6578	SLCO2A1	ORPHA:2796
HP:0004348	Abnormality of bone mineral density	7389	UROD	ORPHA:95159
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1	ORPHA:289548
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1	ORPHA:168558
HP:0004348	Abnormality of bone mineral density	23395	LARS2	OMIM:615300
HP:0004348	Abnormality of bone mineral density	57817	HAMP	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	148738	HJV	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	4763	NF1	ORPHA:97685
HP:0004348	Abnormality of bone mineral density	60386	SLC25A19	ORPHA:99742
HP:0004348	Abnormality of bone mineral density	650	BMP2	OMIM:235200
HP:0004348	Abnormality of bone mineral density	9150	CTDP1	ORPHA:48431
HP:0004348	Abnormality of bone mineral density	55651	NHP2	OMIM:224230
HP:0004348	Abnormality of bone mineral density	55651	NHP2	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	55505	NOP10	OMIM:224230
HP:0004348	Abnormality of bone mineral density	55505	NOP10	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	9368	NHERF1	OMIM:612287
HP:0004348	Abnormality of bone mineral density	2588	GALNS	OMIM:253000
HP:0004348	Abnormality of bone mineral density	5352	PLOD2	ORPHA:2771
HP:0004348	Abnormality of bone mineral density	60681	FKBP10	ORPHA:2771
HP:0004348	Abnormality of bone mineral density	60681	FKBP10	OMIM:259450
HP:0004348	Abnormality of bone mineral density	3594	IL12RB1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	23534	TNPO3	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3592	IL12A	ORPHA:186
HP:0004348	Abnormality of bone mineral density	6689	SPIB	ORPHA:186
HP:0004348	Abnormality of bone mineral density	5450	POU2AF1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	9966	TNFSF15	ORPHA:186
HP:0004348	Abnormality of bone mineral density	79258	MMEL1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3663	IRF5	ORPHA:186
HP:0004348	Abnormality of bone mineral density	100147744	RNU7-1	OMIM:619487
HP:0004348	Abnormality of bone mineral density	285590	SH3PXD2B	OMIM:249420
HP:0004348	Abnormality of bone mineral density	79983	POF1B	OMIM:300604
HP:0004348	Abnormality of bone mineral density	3295	HSD17B4	OMIM:233400
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	OMIM:271640
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	ORPHA:536467
HP:0004348	Abnormality of bone mineral density	55252	ASXL2	OMIM:617190
HP:0004348	Abnormality of bone mineral density	11014	KDELR2	OMIM:619131
HP:0004348	Abnormality of bone mineral density	8815	BANF1	OMIM:614008
HP:0004348	Abnormality of bone mineral density	55811	ADCY10	ORPHA:2197
HP:0004348	Abnormality of bone mineral density	166929	SGMS2	OMIM:126550
HP:0004348	Abnormality of bone mineral density	80169	CTC1	OMIM:612199
HP:0004348	Abnormality of bone mineral density	80169	CTC1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	79650	USB1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	55135	WRAP53	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	51750	RTEL1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	4869	NPM1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	5073	PARN	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	7298	TYMS	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	10892	MALT1	OMIM:615468
HP:0004348	Abnormality of bone mineral density	7390	UROS	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	2623	GATA1	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	23387	SIK3	OMIM:618162
HP:0004348	Abnormality of bone mineral density	54	ACP5	OMIM:607944
HP:0004348	Abnormality of bone mineral density	4854	NOTCH3	OMIM:130720
HP:0004348	Abnormality of bone mineral density	79639	TMEM53	OMIM:619727
HP:0004348	Abnormality of bone mineral density	6885	MAP3K7	ORPHA:1826
HP:0004348	Abnormality of bone mineral density	388015	RTL1	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	8788	DLK1	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	55384	MEG3	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	80270	HSD3B7	OMIM:607765
HP:0004348	Abnormality of bone mineral density	538	ATP7A	ORPHA:198
HP:0004348	Abnormality of bone mineral density	6521	SLC4A1	OMIM:611590
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1	OMIM:264700
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1	OMIM:600081
HP:0004348	Abnormality of bone mineral density	570	BAAT	OMIM:619232
HP:0004348	Abnormality of bone mineral density	249	ALPL	OMIM:146300
HP:0004348	Abnormality of bone mineral density	5205	ATP8B1	OMIM:211600
HP:0004348	Abnormality of bone mineral density	10056	FARSB	OMIM:613658
HP:0004348	Abnormality of bone mineral density	4952	OCRL	OMIM:309000
HP:0004348	Abnormality of bone mineral density	6718	AKR1D1	ORPHA:79303
HP:0004348	Abnormality of bone mineral density	6514	SLC2A2	OMIM:227810
HP:0004348	Abnormality of bone mineral density	6514	SLC2A2	ORPHA:2088
HP:0004348	Abnormality of bone mineral density	9414	TJP2	OMIM:607748
HP:0004348	Abnormality of bone mineral density	50484	RRM2B	OMIM:268315
HP:0004348	Abnormality of bone mineral density	100151683	RNU4ATAC	ORPHA:2636
HP:0004348	Abnormality of bone mineral density	3117	HLA-DQA1	OMIM:212750
HP:0004348	Abnormality of bone mineral density	3119	HLA-DQB1	OMIM:212750
HP:0004348	Abnormality of bone mineral density	9719	ADAMTSL2	ORPHA:1901
HP:0004348	Abnormality of bone mineral density	9509	ADAMTS2	ORPHA:1901
HP:0004348	Abnormality of bone mineral density	50617	ATP6V0A4	OMIM:602722
HP:0004348	Abnormality of bone mineral density	7421	VDR	OMIM:277440
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2	ORPHA:2176
HP:0004348	Abnormality of bone mineral density	6850	SYK	OMIM:619381
HP:0004348	Abnormality of bone mineral density	1175	AP2S1	OMIM:600740
HP:0004348	Abnormality of bone mineral density	540	ATP7B	OMIM:277900
HP:0004348	Abnormality of bone mineral density	8792	TNFRSF11A	OMIM:602080
HP:0004348	Abnormality of bone mineral density	4000	LMNA	ORPHA:79474
HP:0004348	Abnormality of bone mineral density	10568	SLC34A2	ORPHA:60025
HP:0004348	Abnormality of bone mineral density	23592	LEMD3	ORPHA:166119
HP:0004348	Abnormality of bone mineral density	55733	HHAT	ORPHA:1422
HP:0004348	Abnormality of bone mineral density	5934	RBL2	OMIM:619690
HP:0004348	Abnormality of bone mineral density	1436	CSF1R	OMIM:618476
HP:0004348	Abnormality of bone mineral density	28962	OSTM1	ORPHA:85179
HP:0004348	Abnormality of bone mineral density	9790	BMS1	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	5339	PLEC	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	10054	UBA2	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	3691	ITGB4	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	54567	DLL4	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	84172	POLR1B	ORPHA:861
HP:0004348	Abnormality of bone mineral density	9533	POLR1C	ORPHA:861
HP:0004348	Abnormality of bone mineral density	51082	POLR1D	ORPHA:861
HP:0004348	Abnormality of bone mineral density	6949	TCOF1	ORPHA:861
HP:0004348	Abnormality of bone mineral density	9657	IQCB1	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	10806	SDCCAG8	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	27130	INVS	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	80184	CEP290	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	4867	NPHP1	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	261734	NPHP4	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	27031	NPHP3	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	22897	CEP164	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	1501	CTNND2	ORPHA:281
HP:0004348	Abnormality of bone mineral density	9037	SEMA5A	ORPHA:281
HP:0004348	Abnormality of bone mineral density	9723	SEMA3E	ORPHA:138
HP:0004348	Abnormality of bone mineral density	79879	CCDC134	OMIM:619795
HP:0004348	Abnormality of bone mineral density	6424	SFRP4	OMIM:265900
HP:0004348	Abnormality of bone mineral density	2132	EXT2	OMIM:616682
HP:0004348	Abnormality of bone mineral density	2132	EXT2	ORPHA:466926
HP:0004348	Abnormality of bone mineral density	2335	FN1	ORPHA:93315
HP:0004348	Abnormality of bone mineral density	55325	UFSP2	OMIM:617974
HP:0004348	Abnormality of bone mineral density	2767	GNA11	ORPHA:428
HP:0004348	Abnormality of bone mineral density	2767	GNA11	ORPHA:1556
HP:0004348	Abnormality of bone mineral density	846	CASR	ORPHA:428
HP:0004348	Abnormality of bone mineral density	7305	TYROBP	ORPHA:2770
HP:0004348	Abnormality of bone mineral density	5184	PEPD	ORPHA:742
HP:0004348	Abnormality of bone mineral density	8720	MBTPS1	OMIM:618392
HP:0004348	Abnormality of bone mineral density	9131	AIFM1	ORPHA:83629
HP:0004348	Abnormality of bone mineral density	221496	LEMD2	OMIM:619322
HP:0004348	Abnormality of bone mineral density	4773	NFATC2	OMIM:620232
HP:0004348	Abnormality of bone mineral density	151188	ARL6IP6	ORPHA:1556
HP:0004348	Abnormality of bone mineral density	6335	SCN9A	ORPHA:970
HP:0004348	Abnormality of bone mineral density	65125	WNK1	ORPHA:970
HP:0004348	Abnormality of bone mineral density	54463	RETREG1	ORPHA:970
HP:0004348	Abnormality of bone mineral density	547	KIF1A	ORPHA:970
HP:0004348	Abnormality of bone mineral density	1027	CDKN1B	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1026	CDKN1A	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1030	CDKN2B	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1031	CDKN2C	ORPHA:652
HP:0004348	Abnormality of bone mineral density	4693	NDP	ORPHA:891
HP:0004348	Abnormality of bone mineral density	1499	CTNNB1	ORPHA:891
HP:0004348	Abnormality of bone mineral density	23554	TSPAN12	ORPHA:891
HP:0004348	Abnormality of bone mineral density	79797	ZNF408	ORPHA:891
HP:0004348	Abnormality of bone mineral density	8322	FZD4	ORPHA:891
HP:0004348	Abnormality of bone mineral density	55898	UNC45A	OMIM:619377
HP:0004348	Abnormality of bone mineral density	672	BRCA1	ORPHA:84
HP:0004348	Abnormality of bone mineral density	10459	MAD2L2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	7516	XRCC2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	29089	UBE2T	ORPHA:84
HP:0004348	Abnormality of bone mineral density	675	BRCA2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55120	FANCL	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2177	FANCD2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2175	FANCA	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2187	FANCB	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2176	FANCC	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2178	FANCE	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2188	FANCF	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2189	FANCG	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5888	RAD51	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5889	RAD51C	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55159	RFWD3	ORPHA:84
HP:0004348	Abnormality of bone mineral density	83990	BRIP1	ORPHA:84
HP:0004348	Abnormality of bone mineral density	57697	FANCM	ORPHA:84
HP:0004348	Abnormality of bone mineral density	79728	PALB2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	84464	SLX4	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2072	ERCC4	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55215	FANCI	ORPHA:84
HP:0004348	Abnormality of bone mineral density	8481	OFD1	ORPHA:2750
HP:0004348	Abnormality of bone mineral density	51608	GET4	OMIM:620200
HP:0004348	Abnormality of bone mineral density	2717	GLA	ORPHA:324
HP:0004348	Abnormality of bone mineral density	3081	HGD	ORPHA:56
HP:0004348	Abnormality of bone mineral density	114548	NLRP3	ORPHA:1451
HP:0004348	Abnormality of bone mineral density	8883	NAE1	OMIM:620210
HP:0004348	Abnormality of bone mineral density	10371	SEMA3A	ORPHA:478
HP:0004348	Abnormality of bone mineral density	79625	NDNF	ORPHA:478
HP:0004348	Abnormality of bone mineral density	389549	FEZF1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	1630	DCC	ORPHA:478
HP:0004348	Abnormality of bone mineral density	3730	ANOS1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	6663	SOX10	ORPHA:478
HP:0004348	Abnormality of bone mineral density	285025	CCDC141	ORPHA:478
HP:0004348	Abnormality of bone mineral density	5728	PTEN	ORPHA:137608
HP:0004348	Abnormality of bone mineral density	4322	MMP13	ORPHA:2501
HP:0004348	Abnormality of bone mineral density	7415	VCP	ORPHA:329475
HP:0004348	Abnormality of bone mineral density	5251	PHEX	OMIM:307800
HP:0004348	Abnormality of bone mineral density	1497	CTNS	OMIM:219800
HP:0004348	Abnormality of bone mineral density	3172	HNF4A	ORPHA:263455
HP:0004348	Abnormality of bone mineral density	142680	SLC34A3	ORPHA:157215
HP:0004348	Abnormality of bone mineral density	142680	SLC34A3	OMIM:241530
HP:0004348	Abnormality of bone mineral density	6569	SLC34A1	ORPHA:157215
HP:0004348	Abnormality of bone mineral density	6569	SLC34A1	ORPHA:3337
HP:0004348	Abnormality of bone mineral density	1184	CLCN5	OMIM:300554
HP:0004348	Abnormality of bone mineral density	5442	POLRMT	OMIM:619743
HP:0004348	Abnormality of bone mineral density	368	ABCC6	OMIM:614473
HP:0004348	Abnormality of bone mineral density	368	ABCC6	ORPHA:51608
HP:0004348	Abnormality of bone mineral density	137682	NDUFAF6	OMIM:618913
HP:0004348	Abnormality of bone mineral density	137682	NDUFAF6	ORPHA:3337
HP:0004348	Abnormality of bone mineral density	4665	NAB2	ORPHA:2126
HP:0004348	Abnormality of bone mineral density	6778	STAT6	ORPHA:2126
HP:0004348	Abnormality of bone mineral density	8074	FGF23	OMIM:193100
HP:0004348	Abnormality of bone mineral density	3845	KRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	4893	NRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	3265	HRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	3265	HRAS	ORPHA:2874
HP:0004348	Abnormality of bone mineral density	1962	EHHADH	ORPHA:3337
HP:0004348	Abnormality of bone mineral density	2628	GATM	ORPHA:3337
HP:0004348	Abnormality of bone mineral density	6905	TBCE	OMIM:244460
HP:0004348	Abnormality of bone mineral density	6905	TBCE	ORPHA:93324
HP:0004348	Abnormality of bone mineral density	8905	AP1S2	OMIM:304340
HP:0004348	Abnormality of bone mineral density	9365	KL	OMIM:617994
HP:0004348	Abnormality of bone mineral density	1855	DVL1	OMIM:616331
HP:0004348	Abnormality of bone mineral density	9791	PTDSS1	OMIM:151050
HP:0004348	Abnormality of bone mineral density	29893	PSMC3IP	ORPHA:243
HP:0004348	Abnormality of bone mineral density	171568	POLR3H	ORPHA:243
HP:0004348	Abnormality of bone mineral density	2516	NR5A1	ORPHA:243
HP:0004348	Abnormality of bone mineral density	125150	ZSWIM7	ORPHA:243
HP:0004348	Abnormality of bone mineral density	9210	BMP15	ORPHA:243
HP:0004348	Abnormality of bone mineral density	57122	NUP107	ORPHA:243
HP:0004348	Abnormality of bone mineral density	23514	SPIDR	ORPHA:243
HP:0004348	Abnormality of bone mineral density	2492	FSHR	ORPHA:243
HP:0004348	Abnormality of bone mineral density	56945	MRPS22	ORPHA:243
HP:0004348	Abnormality of bone mineral density	646	BNC1	ORPHA:243
HP:0004348	Abnormality of bone mineral density	5626	PROP1	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5626	PROP1	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	2736	GLI2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	89884	LHX4	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	3170	FOXA2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5449	POU1F1	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	8820	HESX1	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5015	OTX2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	6658	SOX3	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	1186	CLCN7	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	9842	PLEKHM1	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	6522	SLC4A2	OMIM:620366
HP:0004348	Abnormality of bone mineral density	50964	SOST	OMIM:122860
HP:0004348	Abnormality of bone mineral density	8878	SQSTM1	OMIM:167250
HP:0004348	Abnormality of bone mineral density	2778	GNAS	ORPHA:94089
HP:0004348	Abnormality of bone mineral density	8675	STX16	ORPHA:94089
HP:0004348	Abnormality of bone mineral density	23516	SLC39A14	OMIM:144755
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	OMIM:259420
HP:0004348	Abnormality of bone mineral density	1278	COL1A2	OMIM:259420
HP:0004348	Abnormality of bone mineral density	26040	SETBP1	OMIM:269150
HP:0004348	Abnormality of bone mineral density	9469	CHST3	OMIM:143095
HP:0004348	Abnormality of bone mineral density	65992	DDRGK1	ORPHA:93352
HP:0004348	Abnormality of bone mineral density	2184	FAH	ORPHA:882
HP:0004348	Abnormality of bone mineral density	1758	DMP1	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	5167	ENPP1	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	10682	EBP	OMIM:302960
HP:0004348	Abnormality of bone mineral density	2074	ERCC6	OMIM:133540
HP:0004348	Abnormality of bone mineral density	1161	ERCC8	OMIM:216400
HP:0004348	Abnormality of bone mineral density	4796	TONSL	ORPHA:93357
HP:0004348	Abnormality of bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0004348	Abnormality of bone mineral density	7227	TRPS1	OMIM:190350
HP:0004348	Abnormality of bone mineral density	10847	SRCAP	OMIM:136140
HP:0004348	Abnormality of bone mineral density	3930	LBR	OMIM:215140
HP:0004348	Abnormality of bone mineral density	8091	HMGA2	ORPHA:94063
HP:0004348	Abnormality of bone mineral density	189	AGXT	OMIM:259900
HP:0004348	Abnormality of bone mineral density	6804	STX1A	ORPHA:904
HP:0004348	Abnormality of bone mineral density	7461	CLIP2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	84277	DNAJC30	ORPHA:904
HP:0004348	Abnormality of bone mineral density	8468	FKBP6	ORPHA:904
HP:0004348	Abnormality of bone mineral density	5982	RFC2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	2969	GTF2I	ORPHA:904
HP:0004348	Abnormality of bone mineral density	3984	LIMK1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	155382	VPS37D	ORPHA:904
HP:0004348	Abnormality of bone mineral density	155368	METTL27	ORPHA:904
HP:0004348	Abnormality of bone mineral density	114049	BUD23	ORPHA:904
HP:0004348	Abnormality of bone mineral density	7458	EIF4H	ORPHA:904
HP:0004348	Abnormality of bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	9275	BCL7B	ORPHA:904
HP:0004348	Abnormality of bone mineral density	26608	TBL2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	653361	NCF1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	135886	TMEM270	ORPHA:904
HP:0004348	Abnormality of bone mineral density	51085	MLXIPL	ORPHA:904
HP:0004348	Abnormality of bone mineral density	9031	BAZ1B	ORPHA:904
HP:0004348	Abnormality of bone mineral density	2006	ELN	ORPHA:904
HP:0004348	Abnormality of bone mineral density	6916	TBXAS1	OMIM:231095
HP:0004348	Abnormality of bone mineral density	1836	SLC26A2	ORPHA:628
HP:0004348	Abnormality of bone mineral density	7486	WRN	ORPHA:902
HP:0004348	Abnormality of bone mineral density	1747	DLX3	OMIM:190320
HP:0004348	Abnormality of bone mineral density	1747	DLX3	ORPHA:3352
HP:0004348	Abnormality of bone mineral density	56975	FAM20C	OMIM:259775
HP:0004348	Abnormality of bone mineral density	9663	LPIN2	ORPHA:77297
HP:0004348	Abnormality of bone mineral density	5604	MAP2K1	OMIM:155950
HP:0004348	Abnormality of bone mineral density	1513	CTSK	OMIM:265800
HP:0004348	Abnormality of bone mineral density	1513	CTSK	ORPHA:763
HP:0004348	Abnormality of bone mineral density	7040	TGFB1	OMIM:131300
HP:0004348	Abnormality of bone mineral density	4160	MC4R	OMIM:618406
HP:0004348	Abnormality of bone mineral density	55315	SLC29A3	ORPHA:1782
HP:0004348	Abnormality of bone mineral density	2961	GTF2E2	OMIM:616943
HP:0004348	Abnormality of bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	63901	FAM111A	OMIM:127000
HP:0004348	Abnormality of bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	833	CARS1	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	2068	ERCC2	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	7737	RNF113A	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	6897	TARS1	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	2071	ERCC3	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	3339	HSPG2	ORPHA:800
HP:0004348	Abnormality of bone mineral density	4982	TNFRSF11B	OMIM:239000
HP:0004348	Abnormality of bone mineral density	4038	LRP4	ORPHA:3152
HP:0004348	Abnormality of bone mineral density	2629	GBA1	ORPHA:77261
HP:0004348	Abnormality of bone mineral density	2629	GBA1	ORPHA:77259
HP:0004348	Abnormality of bone mineral density	860	RUNX2	OMIM:119600
HP:0004348	Abnormality of bone mineral density	5745	PTH1R	ORPHA:50945
HP:0004348	Abnormality of bone mineral density	649	BMP1	OMIM:614856
HP:0004348	Abnormality of bone mineral density	2316	FLNA	ORPHA:90650
HP:0004348	Abnormality of bone mineral density	2316	FLNA	ORPHA:90652
HP:0004348	Abnormality of bone mineral density	950	SCARB2	ORPHA:77259
HP:0004348	Abnormality of bone mineral density	1718	DHCR24	ORPHA:35107
HP:0004348	Abnormality of bone mineral density	29887	SNX10	OMIM:615085
HP:0004348	Abnormality of bone mineral density	29887	SNX10	ORPHA:667
HP:0004348	Abnormality of bone mineral density	2697	GJA1	ORPHA:1522
HP:0004348	Abnormality of bone mineral density	56172	ANKH	ORPHA:1522
HP:0004348	Abnormality of bone mineral density	83706	FERMT3	OMIM:612840
HP:0004348	Abnormality of bone mineral density	4286	MITF	OMIM:617306
HP:0004348	Abnormality of bone mineral density	139285	AMER1	ORPHA:2780
HP:0004348	Abnormality of bone mineral density	760	CA2	OMIM:259730
HP:0004348	Abnormality of bone mineral density	760	CA2	ORPHA:2785
HP:0004348	Abnormality of bone mineral density	8600	TNFSF11	OMIM:259710
HP:0004348	Abnormality of bone mineral density	8600	TNFSF11	ORPHA:667
HP:0004348	Abnormality of bone mineral density	1280	COL2A1	OMIM:608805
HP:0004348	Abnormality of bone mineral density	26229	B3GAT3	OMIM:245600
HP:0004348	Abnormality of bone mineral density	26137	ZBTB20	OMIM:259050
HP:0004348	Abnormality of bone mineral density	6772	STAT1	ORPHA:391487
HP:0004348	Abnormality of bone mineral density	10043	TOM1	ORPHA:391487
HP:0004348	Abnormality of bone mineral density	8838	CCN6	ORPHA:1159
HP:0004348	Abnormality of bone mineral density	55603	TENT5A	OMIM:617952
HP:0004348	Abnormality of bone mineral density	23314	SATB2	OMIM:612313
HP:0004348	Abnormality of bone mineral density	875	CBS	OMIM:236200
HP:0004348	Abnormality of bone mineral density	4221	MEN1	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	9247	GCM2	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	79577	CDC73	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	121340	SP7	OMIM:613849
HP:0004348	Abnormality of bone mineral density	4323	MMP14	OMIM:277950
HP:0004348	Abnormality of bone mineral density	5654	HTRA1	ORPHA:199354
HP:0004348	Abnormality of bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0004348	Abnormality of bone mineral density	55768	NGLY1	ORPHA:404454
HP:0004348	Abnormality of bone mineral density	4041	LRP5	ORPHA:2790
HP:0004348	Abnormality of bone mineral density	4041	LRP5	OMIM:144750
HP:0004348	Abnormality of bone mineral density	79705	LRRK1	OMIM:615198
HP:0004349	Reduced bone mineral density	55503	TRPV6	OMIM:618188
HP:0004349	Reduced bone mineral density	8425	LTBP4	OMIM:613177
HP:0004349	Reduced bone mineral density	51126	NAA20	OMIM:619717
HP:0004349	Reduced bone mineral density	7355	SLC35A2	ORPHA:356961
HP:0004349	Reduced bone mineral density	3190	HNRNPK	ORPHA:453504
HP:0004349	Reduced bone mineral density	3190	HNRNPK	ORPHA:352665
HP:0004349	Reduced bone mineral density	54209	TREM2	OMIM:618193
HP:0004349	Reduced bone mineral density	4125	MAN2B1	ORPHA:309282
HP:0004349	Reduced bone mineral density	4125	MAN2B1	ORPHA:309288
HP:0004349	Reduced bone mineral density	8443	GNPAT	OMIM:222765
HP:0004349	Reduced bone mineral density	2201	FBN2	OMIM:121050
HP:0004349	Reduced bone mineral density	4882	NPR2	OMIM:615923
HP:0004349	Reduced bone mineral density	79158	GNPTAB	OMIM:252500
HP:0004349	Reduced bone mineral density	9382	COG1	OMIM:611209
HP:0004349	Reduced bone mineral density	9382	COG1	ORPHA:263508
HP:0004349	Reduced bone mineral density	134218	DNAJC21	ORPHA:811
HP:0004349	Reduced bone mineral density	79631	EFL1	ORPHA:811
HP:0004349	Reduced bone mineral density	51119	SBDS	ORPHA:811
HP:0004349	Reduced bone mineral density	6729	SRP54	ORPHA:811
HP:0004349	Reduced bone mineral density	6729	SRP54	ORPHA:486
HP:0004349	Reduced bone mineral density	64175	P3H1	OMIM:610915
HP:0004349	Reduced bone mineral density	7125	TNNC2	OMIM:620161
HP:0004349	Reduced bone mineral density	3899	AFF3	OMIM:619297
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2	ORPHA:2834
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2	OMIM:278250
HP:0004349	Reduced bone mineral density	90993	CREB3L1	OMIM:616229
HP:0004349	Reduced bone mineral density	1289	COL5A1	ORPHA:287
HP:0004349	Reduced bone mineral density	1290	COL5A2	ORPHA:287
HP:0004349	Reduced bone mineral density	10484	SEC23A	OMIM:607812
HP:0004349	Reduced bone mineral density	8726	EED	OMIM:617561
HP:0004349	Reduced bone mineral density	1028	CDKN1C	OMIM:614732
HP:0004349	Reduced bone mineral density	8642	DCHS1	OMIM:601390
HP:0004349	Reduced bone mineral density	8642	DCHS1	ORPHA:314679
HP:0004349	Reduced bone mineral density	4247	MGAT2	OMIM:212066
HP:0004349	Reduced bone mineral density	4247	MGAT2	ORPHA:79329
HP:0004349	Reduced bone mineral density	1576	CYP3A4	OMIM:619073
HP:0004349	Reduced bone mineral density	11285	B4GALT7	OMIM:130070
HP:0004349	Reduced bone mineral density	11285	B4GALT7	ORPHA:75496
HP:0004349	Reduced bone mineral density	595	CCND1	ORPHA:29073
HP:0004349	Reduced bone mineral density	5034	P4HB	OMIM:112240
HP:0004349	Reduced bone mineral density	55699	IARS2	OMIM:616007
HP:0004349	Reduced bone mineral density	8239	USP9X	ORPHA:480880
HP:0004349	Reduced bone mineral density	285175	UNC80	OMIM:616801
HP:0004349	Reduced bone mineral density	1650	DDOST	OMIM:614507
HP:0004349	Reduced bone mineral density	1650	DDOST	ORPHA:300536
HP:0004349	Reduced bone mineral density	10056	FARSB	OMIM:613658
HP:0004349	Reduced bone mineral density	80067	DCAF17	ORPHA:3464
HP:0004349	Reduced bone mineral density	3845	KRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	4893	NRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	3265	HRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	84992	PIGY	OMIM:616809
HP:0004349	Reduced bone mineral density	79759	ZNF668	OMIM:620194
HP:0004349	Reduced bone mineral density	5626	PROP1	ORPHA:95494
HP:0004349	Reduced bone mineral density	5626	PROP1	ORPHA:90695
HP:0004349	Reduced bone mineral density	2736	GLI2	ORPHA:95494
HP:0004349	Reduced bone mineral density	89884	LHX4	ORPHA:95494
HP:0004349	Reduced bone mineral density	3170	FOXA2	ORPHA:95494
HP:0004349	Reduced bone mineral density	5449	POU1F1	ORPHA:95494
HP:0004349	Reduced bone mineral density	8820	HESX1	ORPHA:95494
HP:0004349	Reduced bone mineral density	5015	OTX2	ORPHA:95494
HP:0004349	Reduced bone mineral density	79991	STN1	OMIM:617341
HP:0004349	Reduced bone mineral density	6774	STAT3	OMIM:147060
HP:0004349	Reduced bone mineral density	6774	STAT3	ORPHA:2314
HP:0004349	Reduced bone mineral density	9276	COPB2	OMIM:619884
HP:0004349	Reduced bone mineral density	3911	LAMA5	OMIM:620076
HP:0004349	Reduced bone mineral density	11128	POLR3A	ORPHA:3455
HP:0004349	Reduced bone mineral density	3187	HNRNPH1	OMIM:620083
HP:0004349	Reduced bone mineral density	54941	RNF125	OMIM:616260
HP:0004349	Reduced bone mineral density	79989	IFT56	OMIM:619534
HP:0004349	Reduced bone mineral density	6603	SMARCD2	OMIM:617475
HP:0004349	Reduced bone mineral density	10516	FBLN5	ORPHA:90348
HP:0004349	Reduced bone mineral density	5832	ALDH18A1	ORPHA:90348
HP:0004349	Reduced bone mineral density	5832	ALDH18A1	OMIM:616603
HP:0004349	Reduced bone mineral density	50628	GEMIN4	OMIM:617913
HP:0004349	Reduced bone mineral density	64116	SLC39A8	ORPHA:468699
HP:0004349	Reduced bone mineral density	64116	SLC39A8	OMIM:616721
HP:0004349	Reduced bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0004349	Reduced bone mineral density	833	CARS1	ORPHA:33364
HP:0004349	Reduced bone mineral density	2068	ERCC2	ORPHA:33364
HP:0004349	Reduced bone mineral density	7737	RNF113A	ORPHA:33364
HP:0004349	Reduced bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0004349	Reduced bone mineral density	6897	TARS1	ORPHA:33364
HP:0004349	Reduced bone mineral density	2071	ERCC3	ORPHA:33364
HP:0004349	Reduced bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0004349	Reduced bone mineral density	10195	ALG3	ORPHA:79321
HP:0004349	Reduced bone mineral density	387733	IFITM5	OMIM:610967
HP:0004349	Reduced bone mineral density	10312	TCIRG1	ORPHA:486
HP:0004349	Reduced bone mineral density	1991	ELANE	ORPHA:486
HP:0004349	Reduced bone mineral density	2672	GFI1	ORPHA:486
HP:0004349	Reduced bone mineral density	81570	CLPB	ORPHA:486
HP:0004349	Reduced bone mineral density	29893	PSMC3IP	ORPHA:243
HP:0004349	Reduced bone mineral density	171568	POLR3H	ORPHA:243
HP:0004349	Reduced bone mineral density	125150	ZSWIM7	ORPHA:243
HP:0004349	Reduced bone mineral density	9210	BMP15	ORPHA:243
HP:0004349	Reduced bone mineral density	57122	NUP107	ORPHA:243
HP:0004349	Reduced bone mineral density	23514	SPIDR	ORPHA:243
HP:0004349	Reduced bone mineral density	56945	MRPS22	ORPHA:243
HP:0004349	Reduced bone mineral density	646	BNC1	ORPHA:243
HP:0004349	Reduced bone mineral density	91252	SLC39A13	ORPHA:157965
HP:0004349	Reduced bone mineral density	91252	SLC39A13	OMIM:612350
HP:0004349	Reduced bone mineral density	9742	IFT140	OMIM:266920
HP:0004349	Reduced bone mineral density	55151	TMEM38B	OMIM:615066
HP:0004349	Reduced bone mineral density	203859	ANO5	OMIM:166260
HP:0004349	Reduced bone mineral density	203859	ANO5	ORPHA:53697
HP:0004349	Reduced bone mineral density	7227	TRPS1	OMIM:190350
HP:0004349	Reduced bone mineral density	7227	TRPS1	OMIM:190351
HP:0004349	Reduced bone mineral density	5426	POLE	OMIM:618336
HP:0004349	Reduced bone mineral density	2200	FBN1	ORPHA:2462
HP:0004349	Reduced bone mineral density	6497	SKI	ORPHA:2462
HP:0004349	Reduced bone mineral density	6497	SKI	OMIM:182212
HP:0004349	Reduced bone mineral density	90417	KNSTRN	OMIM:613328
HP:0004349	Reduced bone mineral density	90417	KNSTRN	ORPHA:221139
HP:0004349	Reduced bone mineral density	5293	PIK3CD	OMIM:613328
HP:0004349	Reduced bone mineral density	5293	PIK3CD	ORPHA:221139
HP:0004349	Reduced bone mineral density	865	CBFB	OMIM:620099
HP:0004349	Reduced bone mineral density	6658	SOX3	ORPHA:90695
HP:0004349	Reduced bone mineral density	2629	GBA1	ORPHA:77259
HP:0004349	Reduced bone mineral density	950	SCARB2	ORPHA:77259
HP:0004349	Reduced bone mineral density	8818	DPM2	ORPHA:329178
HP:0004349	Reduced bone mineral density	9842	PLEKHM1	OMIM:618107
HP:0004349	Reduced bone mineral density	89970	RSPRY1	OMIM:616723
HP:0004349	Reduced bone mineral density	89970	RSPRY1	ORPHA:457395
HP:0004349	Reduced bone mineral density	128869	PIGU	OMIM:618590
HP:0004349	Reduced bone mineral density	9871	SEC24D	OMIM:616294
HP:0004349	Reduced bone mineral density	6809	STX3	OMIM:619445
HP:0004349	Reduced bone mineral density	6809	STX3	OMIM:619446
HP:0004349	Reduced bone mineral density	57520	HECW2	OMIM:617268
HP:0004349	Reduced bone mineral density	23586	RIGI	OMIM:616298
HP:0004349	Reduced bone mineral density	169792	GLIS3	OMIM:610199
HP:0004349	Reduced bone mineral density	55033	FKBP14	OMIM:614557
HP:0004349	Reduced bone mineral density	55033	FKBP14	ORPHA:300179
HP:0004349	Reduced bone mineral density	2530	FUT8	OMIM:618005
HP:0004349	Reduced bone mineral density	10265	IRX5	OMIM:611174
HP:0004349	Reduced bone mineral density	551	AVP	OMIM:125700
HP:0004349	Reduced bone mineral density	26146	TRAF3IP1	OMIM:616629
HP:0004349	Reduced bone mineral density	55750	AGK	OMIM:212350
HP:0004349	Reduced bone mineral density	4547	MTTP	ORPHA:14
HP:0004349	Reduced bone mineral density	6557	SLC12A1	OMIM:601678
HP:0004349	Reduced bone mineral density	4507	MTAP	OMIM:112250
HP:0004349	Reduced bone mineral density	3758	KCNJ1	OMIM:241200
HP:0004349	Reduced bone mineral density	8985	PLOD3	OMIM:612394
HP:0004349	Reduced bone mineral density	9419	CRIPT	OMIM:615789
HP:0004349	Reduced bone mineral density	84701	COX4I2	OMIM:612714
HP:0004349	Reduced bone mineral density	5660	PSAP	OMIM:610539
HP:0004349	Reduced bone mineral density	10664	CTCF	ORPHA:363611
HP:0004349	Reduced bone mineral density	5205	ATP8B1	OMIM:211600
HP:0004349	Reduced bone mineral density	4796	TONSL	OMIM:271510
HP:0004349	Reduced bone mineral density	51360	MBTPS2	OMIM:301014
HP:0004349	Reduced bone mineral density	6872	TAF1	OMIM:300966
HP:0004349	Reduced bone mineral density	374879	ZNF699	OMIM:619488
HP:0004349	Reduced bone mineral density	60676	PAPPA2	OMIM:619489
HP:0004349	Reduced bone mineral density	10651	MTX2	OMIM:619127
HP:0004349	Reduced bone mineral density	51124	IER3IP1	OMIM:614231
HP:0004349	Reduced bone mineral density	202018	TAPT1	OMIM:616897
HP:0004349	Reduced bone mineral density	3557	IL1RN	OMIM:612852
HP:0004349	Reduced bone mineral density	6514	SLC2A2	ORPHA:2088
HP:0004349	Reduced bone mineral density	50485	SMARCAL1	OMIM:242900
HP:0004349	Reduced bone mineral density	6554	SLC10A1	OMIM:619256
HP:0004349	Reduced bone mineral density	5745	PTH1R	OMIM:156400
HP:0004349	Reduced bone mineral density	9365	KL	OMIM:617994
HP:0004349	Reduced bone mineral density	26503	SLC17A5	OMIM:269920
HP:0004349	Reduced bone mineral density	4668	NAGA	OMIM:609241
HP:0004349	Reduced bone mineral density	10491	CRTAP	OMIM:610682
HP:0004349	Reduced bone mineral density	4194	MDM4	OMIM:618849
HP:0004349	Reduced bone mineral density	10269	ZMPSTE24	ORPHA:1662
HP:0004349	Reduced bone mineral density	2263	FGFR2	ORPHA:313855
HP:0004349	Reduced bone mineral density	375056	MIA3	OMIM:619269
HP:0004349	Reduced bone mineral density	9935	MAFB	OMIM:166300
HP:0004349	Reduced bone mineral density	25886	POC1A	OMIM:614813
HP:0004349	Reduced bone mineral density	871	SERPINH1	OMIM:613848
HP:0004349	Reduced bone mineral density	171023	ASXL1	ORPHA:98850
HP:0004349	Reduced bone mineral density	171023	ASXL1	ORPHA:98849
HP:0004349	Reduced bone mineral density	54790	TET2	ORPHA:98850
HP:0004349	Reduced bone mineral density	54790	TET2	ORPHA:98849
HP:0004349	Reduced bone mineral density	867	CBL	ORPHA:98850
HP:0004349	Reduced bone mineral density	861	RUNX1	ORPHA:98850
HP:0004349	Reduced bone mineral density	6427	SRSF2	ORPHA:98850
HP:0004349	Reduced bone mineral density	6427	SRSF2	ORPHA:98849
HP:0004349	Reduced bone mineral density	83932	SPRTN	OMIM:616200
HP:0004349	Reduced bone mineral density	2100	ESR2	OMIM:618187
HP:0004349	Reduced bone mineral density	4010	LMX1B	ORPHA:2614
HP:0004349	Reduced bone mineral density	6938	TCF12	OMIM:619718
HP:0004349	Reduced bone mineral density	1593	CYP27A1	OMIM:213700
HP:0004349	Reduced bone mineral density	1593	CYP27A1	ORPHA:909
HP:0004349	Reduced bone mineral density	3815	KIT	ORPHA:98849
HP:0004349	Reduced bone mineral density	118429	ANTXR2	ORPHA:2176
HP:0004349	Reduced bone mineral density	118429	ANTXR2	OMIM:228600
HP:0004349	Reduced bone mineral density	64682	ANAPC1	OMIM:618625
HP:0004349	Reduced bone mineral density	1736	DKC1	OMIM:305000
HP:0004349	Reduced bone mineral density	1736	DKC1	ORPHA:1775
HP:0004349	Reduced bone mineral density	538	ATP7A	OMIM:304150
HP:0004349	Reduced bone mineral density	538	ATP7A	ORPHA:565
HP:0004349	Reduced bone mineral density	538	ATP7A	ORPHA:198
HP:0004349	Reduced bone mineral density	538	ATP7A	OMIM:309400
HP:0004349	Reduced bone mineral density	2542	SLC37A4	OMIM:232220
HP:0004349	Reduced bone mineral density	2542	SLC37A4	OMIM:619525
HP:0004349	Reduced bone mineral density	2542	SLC37A4	ORPHA:79259
HP:0004349	Reduced bone mineral density	80270	HSD3B7	ORPHA:79301
HP:0004349	Reduced bone mineral density	91147	TMEM67	OMIM:602152
HP:0004349	Reduced bone mineral density	9401	RECQL4	OMIM:268400
HP:0004349	Reduced bone mineral density	3909	LAMA3	ORPHA:79404
HP:0004349	Reduced bone mineral density	3918	LAMC2	ORPHA:79404
HP:0004349	Reduced bone mineral density	3914	LAMB3	ORPHA:79404
HP:0004349	Reduced bone mineral density	4784	NFIX	ORPHA:447980
HP:0004349	Reduced bone mineral density	4312	MMP1	ORPHA:79408
HP:0004349	Reduced bone mineral density	1294	COL7A1	ORPHA:79408
HP:0004349	Reduced bone mineral density	1528	CYB5A	ORPHA:90796
HP:0004349	Reduced bone mineral density	1586	CYP17A1	ORPHA:90796
HP:0004349	Reduced bone mineral density	64072	CDH23	ORPHA:2965
HP:0004349	Reduced bone mineral density	64072	CDH23	ORPHA:96253
HP:0004349	Reduced bone mineral density	64072	CDH23	ORPHA:91347
HP:0004349	Reduced bone mineral density	9049	AIP	ORPHA:2965
HP:0004349	Reduced bone mineral density	9049	AIP	OMIM:219090
HP:0004349	Reduced bone mineral density	4552	MTRR	ORPHA:2169
HP:0004349	Reduced bone mineral density	50940	PDE11A	OMIM:610475
HP:0004349	Reduced bone mineral density	50940	PDE11A	ORPHA:189439
HP:0004349	Reduced bone mineral density	10216	PRG4	ORPHA:2848
HP:0004349	Reduced bone mineral density	7486	WRN	OMIM:277700
HP:0004349	Reduced bone mineral density	7486	WRN	ORPHA:902
HP:0004349	Reduced bone mineral density	26012	NSMF	OMIM:614838
HP:0004349	Reduced bone mineral density	26012	NSMF	ORPHA:432
HP:0004349	Reduced bone mineral density	3764	KCNJ8	ORPHA:1517
HP:0004349	Reduced bone mineral density	10060	ABCC9	ORPHA:1517
HP:0004349	Reduced bone mineral density	10060	ABCC9	OMIM:239850
HP:0004349	Reduced bone mineral density	7015	TERT	OMIM:613989
HP:0004349	Reduced bone mineral density	7015	TERT	OMIM:127550
HP:0004349	Reduced bone mineral density	7015	TERT	ORPHA:1775
HP:0004349	Reduced bone mineral density	57539	WDR35	ORPHA:1515
HP:0004349	Reduced bone mineral density	112752	IFT43	ORPHA:1515
HP:0004349	Reduced bone mineral density	51098	IFT52	ORPHA:1515
HP:0004349	Reduced bone mineral density	55764	IFT122	ORPHA:1515
HP:0004349	Reduced bone mineral density	55764	IFT122	OMIM:218330
HP:0004349	Reduced bone mineral density	57728	WDR19	ORPHA:1515
HP:0004349	Reduced bone mineral density	535	ATP6V0A1	OMIM:619971
HP:0004349	Reduced bone mineral density	2859	GPR35	ORPHA:171
HP:0004349	Reduced bone mineral density	10507	SEMA4D	ORPHA:171
HP:0004349	Reduced bone mineral density	4485	MST1	ORPHA:171
HP:0004349	Reduced bone mineral density	6925	TCF4	ORPHA:171
HP:0004349	Reduced bone mineral density	54453	RIN2	OMIM:613075
HP:0004349	Reduced bone mineral density	26277	TINF2	OMIM:613990
HP:0004349	Reduced bone mineral density	26277	TINF2	OMIM:127550
HP:0004349	Reduced bone mineral density	26277	TINF2	ORPHA:1775
HP:0004349	Reduced bone mineral density	4853	NOTCH2	OMIM:102500
HP:0004349	Reduced bone mineral density	4853	NOTCH2	ORPHA:955
HP:0004349	Reduced bone mineral density	2538	G6PC1	OMIM:232200
HP:0004349	Reduced bone mineral density	5573	PRKAR1A	OMIM:610489
HP:0004349	Reduced bone mineral density	5573	PRKAR1A	ORPHA:189439
HP:0004349	Reduced bone mineral density	55858	TMEM165	OMIM:614727
HP:0004349	Reduced bone mineral density	3117	HLA-DQA1	OMIM:212750
HP:0004349	Reduced bone mineral density	3119	HLA-DQB1	OMIM:212750
HP:0004349	Reduced bone mineral density	5095	PCCA	OMIM:606054
HP:0004349	Reduced bone mineral density	5096	PCCB	OMIM:606054
HP:0004349	Reduced bone mineral density	4313	MMP2	ORPHA:371428
HP:0004349	Reduced bone mineral density	4313	MMP2	OMIM:259600
HP:0004349	Reduced bone mineral density	10815	CPLX1	ORPHA:280
HP:0004349	Reduced bone mineral density	54872	PIGG	ORPHA:280
HP:0004349	Reduced bone mineral density	7469	NELFA	ORPHA:280
HP:0004349	Reduced bone mineral density	1487	CTBP1	ORPHA:280
HP:0004349	Reduced bone mineral density	3954	LETM1	ORPHA:280
HP:0004349	Reduced bone mineral density	7468	NSD2	ORPHA:280
HP:0004349	Reduced bone mineral density	5424	POLD1	OMIM:615381
HP:0004349	Reduced bone mineral density	1848	DUSP6	OMIM:615269
HP:0004349	Reduced bone mineral density	1848	DUSP6	ORPHA:432
HP:0004349	Reduced bone mineral density	2720	GLB1	OMIM:253010
HP:0004349	Reduced bone mineral density	54756	IL17RD	OMIM:615267
HP:0004349	Reduced bone mineral density	2492	FSHR	OMIM:233300
HP:0004349	Reduced bone mineral density	93627	TBCK	ORPHA:488632
HP:0004349	Reduced bone mineral density	649	BMP1	OMIM:614856
HP:0004349	Reduced bone mineral density	7471	WNT1	ORPHA:85193
HP:0004349	Reduced bone mineral density	22943	DKK1	ORPHA:85193
HP:0004349	Reduced bone mineral density	89780	WNT3A	ORPHA:85193
HP:0004349	Reduced bone mineral density	6662	SOX9	ORPHA:251510
HP:0004349	Reduced bone mineral density	6845	VAMP7	ORPHA:251510
HP:0004349	Reduced bone mineral density	51741	WWOX	ORPHA:251510
HP:0004349	Reduced bone mineral density	4214	MAP3K1	ORPHA:251510
HP:0004349	Reduced bone mineral density	2516	NR5A1	ORPHA:251510
HP:0004349	Reduced bone mineral density	7490	WT1	ORPHA:251510
HP:0004349	Reduced bone mineral density	58524	DMRT3	ORPHA:251510
HP:0004349	Reduced bone mineral density	57647	DHX37	ORPHA:251510
HP:0004349	Reduced bone mineral density	6736	SRY	ORPHA:251510
HP:0004349	Reduced bone mineral density	23414	ZFPM2	ORPHA:251510
HP:0004349	Reduced bone mineral density	190	NR0B1	ORPHA:251510
HP:0004349	Reduced bone mineral density	2626	GATA4	ORPHA:251510
HP:0004349	Reduced bone mineral density	64132	XYLT2	ORPHA:85194
HP:0004349	Reduced bone mineral density	1588	CYP19A1	ORPHA:91
HP:0004349	Reduced bone mineral density	2074	ERCC6	OMIM:214150
HP:0004349	Reduced bone mineral density	2074	ERCC6	OMIM:133540
HP:0004349	Reduced bone mineral density	3043	HBB	ORPHA:232
HP:0004349	Reduced bone mineral density	3043	HBB	ORPHA:231214
HP:0004349	Reduced bone mineral density	3043	HBB	ORPHA:231222
HP:0004349	Reduced bone mineral density	3043	HBB	ORPHA:231226
HP:0004349	Reduced bone mineral density	1798	DPAGT1	ORPHA:86309
HP:0004349	Reduced bone mineral density	9056	SLC7A7	ORPHA:470
HP:0004349	Reduced bone mineral density	9056	SLC7A7	OMIM:222700
HP:0004349	Reduced bone mineral density	55768	NGLY1	OMIM:615273
HP:0004349	Reduced bone mineral density	8822	FGF17	OMIM:615270
HP:0004349	Reduced bone mineral density	8822	FGF17	ORPHA:432
HP:0004349	Reduced bone mineral density	23767	FLRT3	OMIM:615271
HP:0004349	Reduced bone mineral density	51604	PIGT	OMIM:615398
HP:0004349	Reduced bone mineral density	213	ALB	OMIM:616000
HP:0004349	Reduced bone mineral density	5566	PRKACA	OMIM:615830
HP:0004349	Reduced bone mineral density	5566	PRKACA	ORPHA:189439
HP:0004349	Reduced bone mineral density	6135	RPL11	OMIM:612562
HP:0004349	Reduced bone mineral density	79633	FAT4	OMIM:616006
HP:0004349	Reduced bone mineral density	8622	PDE8B	ORPHA:189439
HP:0004349	Reduced bone mineral density	6804	STX1A	ORPHA:904
HP:0004349	Reduced bone mineral density	6804	STX1A	ORPHA:586
HP:0004349	Reduced bone mineral density	7461	CLIP2	ORPHA:904
HP:0004349	Reduced bone mineral density	84277	DNAJC30	ORPHA:904
HP:0004349	Reduced bone mineral density	8468	FKBP6	ORPHA:904
HP:0004349	Reduced bone mineral density	5982	RFC2	ORPHA:904
HP:0004349	Reduced bone mineral density	2969	GTF2I	ORPHA:904
HP:0004349	Reduced bone mineral density	3984	LIMK1	ORPHA:904
HP:0004349	Reduced bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0004349	Reduced bone mineral density	155382	VPS37D	ORPHA:904
HP:0004349	Reduced bone mineral density	155368	METTL27	ORPHA:904
HP:0004349	Reduced bone mineral density	114049	BUD23	ORPHA:904
HP:0004349	Reduced bone mineral density	7458	EIF4H	ORPHA:904
HP:0004349	Reduced bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0004349	Reduced bone mineral density	9275	BCL7B	ORPHA:904
HP:0004349	Reduced bone mineral density	26608	TBL2	ORPHA:904
HP:0004349	Reduced bone mineral density	653361	NCF1	ORPHA:904
HP:0004349	Reduced bone mineral density	135886	TMEM270	ORPHA:904
HP:0004349	Reduced bone mineral density	51085	MLXIPL	ORPHA:904
HP:0004349	Reduced bone mineral density	51085	MLXIPL	OMIM:194050
HP:0004349	Reduced bone mineral density	9031	BAZ1B	ORPHA:904
HP:0004349	Reduced bone mineral density	2006	ELN	ORPHA:904
HP:0004349	Reduced bone mineral density	2006	ELN	OMIM:194050
HP:0004349	Reduced bone mineral density	79798	ARMC5	OMIM:615954
HP:0004349	Reduced bone mineral density	79798	ARMC5	ORPHA:189427
HP:0004349	Reduced bone mineral density	5428	POLG	OMIM:203700
HP:0004349	Reduced bone mineral density	5428	POLG	ORPHA:254892
HP:0004349	Reduced bone mineral density	6134	RPL10	ORPHA:459070
HP:0004349	Reduced bone mineral density	6134	RPL10	OMIM:300998
HP:0004349	Reduced bone mineral density	799	CALCR	OMIM:166710
HP:0004349	Reduced bone mineral density	8572	PDLIM4	OMIM:166710
HP:0004349	Reduced bone mineral density	6609	SMPD1	OMIM:257200
HP:0004349	Reduced bone mineral density	6609	SMPD1	ORPHA:77293
HP:0004349	Reduced bone mineral density	4040	LRP6	OMIM:610947
HP:0004349	Reduced bone mineral density	2947	GSTM3	ORPHA:586
HP:0004349	Reduced bone mineral density	7040	TGFB1	ORPHA:586
HP:0004349	Reduced bone mineral density	2729	GCLC	ORPHA:586
HP:0004349	Reduced bone mineral density	1084	CEACAM3	ORPHA:586
HP:0004349	Reduced bone mineral density	6556	SLC11A1	ORPHA:586
HP:0004349	Reduced bone mineral density	51164	DCTN4	ORPHA:586
HP:0004349	Reduced bone mineral density	3783	KCNN4	ORPHA:586
HP:0004349	Reduced bone mineral density	4282	MIF	ORPHA:586
HP:0004349	Reduced bone mineral density	1909	EDNRA	ORPHA:586
HP:0004349	Reduced bone mineral density	6550	SLC9A3	ORPHA:586
HP:0004349	Reduced bone mineral density	3162	HMOX1	ORPHA:586
HP:0004349	Reduced bone mineral density	115019	SLC26A9	ORPHA:586
HP:0004349	Reduced bone mineral density	3077	HFE	ORPHA:586
HP:0004349	Reduced bone mineral density	3077	HFE	ORPHA:465508
HP:0004349	Reduced bone mineral density	3077	HFE	OMIM:235200
HP:0004349	Reduced bone mineral density	11254	SLC6A14	ORPHA:586
HP:0004349	Reduced bone mineral density	5265	SERPINA1	ORPHA:586
HP:0004349	Reduced bone mineral density	1080	CFTR	ORPHA:586
HP:0004349	Reduced bone mineral density	22802	CLCA4	ORPHA:586
HP:0004349	Reduced bone mineral density	4680	CEACAM6	ORPHA:586
HP:0004349	Reduced bone mineral density	9321	TRIP11	OMIM:184260
HP:0004349	Reduced bone mineral density	8733	GPAA1	ORPHA:529665
HP:0004349	Reduced bone mineral density	5159	PDGFRB	OMIM:601812
HP:0004349	Reduced bone mineral density	4982	TNFRSF11B	ORPHA:2801
HP:0004349	Reduced bone mineral density	4982	TNFRSF11B	OMIM:239000
HP:0004349	Reduced bone mineral density	8792	TNFRSF11A	ORPHA:2801
HP:0004349	Reduced bone mineral density	2778	GNAS	ORPHA:189427
HP:0004349	Reduced bone mineral density	2778	GNAS	OMIM:612463
HP:0004349	Reduced bone mineral density	2778	GNAS	OMIM:612462
HP:0004349	Reduced bone mineral density	2778	GNAS	OMIM:219080
HP:0004349	Reduced bone mineral density	2778	GNAS	OMIM:103580
HP:0004349	Reduced bone mineral density	6714	SRC	OMIM:616937
HP:0004349	Reduced bone mineral density	540	ATP7B	OMIM:277900
HP:0004349	Reduced bone mineral density	124583	CANT1	OMIM:251450
HP:0004349	Reduced bone mineral density	11107	PRDM5	ORPHA:90354
HP:0004349	Reduced bone mineral density	84627	ZNF469	ORPHA:90354
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:98754
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:177904
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:177901
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:98754
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:177904
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:177901
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:98754
HP:0004349	Reduced bone mineral density	54551	MAGEL2	OMIM:176270
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:177904
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:177901
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:398069
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:98754
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:177904
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:177901
HP:0004349	Reduced bone mineral density	9968	MED12	OMIM:301068
HP:0004349	Reduced bone mineral density	5373	PMM2	ORPHA:79318
HP:0004349	Reduced bone mineral density	5618	PRLR	ORPHA:397685
HP:0004349	Reduced bone mineral density	9394	HS6ST1	OMIM:614880
HP:0004349	Reduced bone mineral density	9394	HS6ST1	ORPHA:432
HP:0004349	Reduced bone mineral density	3977	LIFR	ORPHA:3206
HP:0004349	Reduced bone mineral density	3977	LIFR	OMIM:601559
HP:0004349	Reduced bone mineral density	55275	VPS53	OMIM:615851
HP:0004349	Reduced bone mineral density	6611	SMS	OMIM:309583
HP:0004349	Reduced bone mineral density	6611	SMS	ORPHA:3063
HP:0004349	Reduced bone mineral density	654	BMP6	ORPHA:465508
HP:0004349	Reduced bone mineral density	7048	TGFBR2	OMIM:610168
HP:0004349	Reduced bone mineral density	3339	HSPG2	OMIM:255800
HP:0004349	Reduced bone mineral density	3339	HSPG2	ORPHA:800
HP:0004349	Reduced bone mineral density	5836	PYGL	ORPHA:369
HP:0004349	Reduced bone mineral density	5256	PHKA2	ORPHA:264580
HP:0004349	Reduced bone mineral density	5261	PHKG2	ORPHA:264580
HP:0004349	Reduced bone mineral density	93587	TRMT10A	OMIM:616033
HP:0004349	Reduced bone mineral density	284119	CAVIN1	OMIM:613327
HP:0004349	Reduced bone mineral density	6309	SC5D	OMIM:607330
HP:0004349	Reduced bone mineral density	3479	IGF1	ORPHA:73272
HP:0004349	Reduced bone mineral density	4088	SMAD3	ORPHA:284984
HP:0004349	Reduced bone mineral density	291	SLC25A4	ORPHA:254892
HP:0004349	Reduced bone mineral density	56652	TWNK	ORPHA:254892
HP:0004349	Reduced bone mineral density	11232	POLG2	ORPHA:254892
HP:0004349	Reduced bone mineral density	50484	RRM2B	ORPHA:254892
HP:0004349	Reduced bone mineral density	2260	FGFR1	ORPHA:432
HP:0004349	Reduced bone mineral density	81848	SPRY4	ORPHA:432
HP:0004349	Reduced bone mineral density	128674	PROKR2	ORPHA:432
HP:0004349	Reduced bone mineral density	2253	FGF8	ORPHA:432
HP:0004349	Reduced bone mineral density	60675	PROK2	ORPHA:432
HP:0004349	Reduced bone mineral density	60675	PROK2	OMIM:610628
HP:0004349	Reduced bone mineral density	55636	CHD7	ORPHA:432
HP:0004349	Reduced bone mineral density	6870	TACR3	ORPHA:432
HP:0004349	Reduced bone mineral density	55717	WDR11	ORPHA:432
HP:0004349	Reduced bone mineral density	2796	GNRH1	ORPHA:432
HP:0004349	Reduced bone mineral density	2798	GNRHR	ORPHA:432
HP:0004349	Reduced bone mineral density	84634	KISS1R	ORPHA:432
HP:0004349	Reduced bone mineral density	6866	TAC3	ORPHA:432
HP:0004349	Reduced bone mineral density	3814	KISS1	ORPHA:432
HP:0004349	Reduced bone mineral density	5351	PLOD1	OMIM:225400
HP:0004349	Reduced bone mineral density	5351	PLOD1	ORPHA:1900
HP:0004349	Reduced bone mineral density	5193	PEX12	OMIM:266510
HP:0004349	Reduced bone mineral density	7681	MKRN3	OMIM:176270
HP:0004349	Reduced bone mineral density	3653	IPW	OMIM:176270
HP:0004349	Reduced bone mineral density	791114	PWRN1	OMIM:176270
HP:0004349	Reduced bone mineral density	100033413	SNORD116-1	OMIM:176270
HP:0004349	Reduced bone mineral density	8924	HERC2	OMIM:176270
HP:0004349	Reduced bone mineral density	145624	PWAR1	OMIM:176270
HP:0004349	Reduced bone mineral density	23742	NPAP1	OMIM:176270
HP:0004349	Reduced bone mineral density	338433	SNORD115-1	OMIM:176270
HP:0004349	Reduced bone mineral density	2099	ESR1	ORPHA:785
HP:0004349	Reduced bone mineral density	51103	NDUFAF1	OMIM:618234
HP:0004349	Reduced bone mineral density	6492	SIM1	ORPHA:398079
HP:0004349	Reduced bone mineral density	5831	PYCR1	OMIM:614438
HP:0004349	Reduced bone mineral density	5831	PYCR1	ORPHA:2078
HP:0004349	Reduced bone mineral density	7012	TERC	OMIM:127550
HP:0004349	Reduced bone mineral density	7012	TERC	ORPHA:1775
HP:0004349	Reduced bone mineral density	4041	LRP5	OMIM:259770
HP:0004349	Reduced bone mineral density	4041	LRP5	ORPHA:2788
HP:0004349	Reduced bone mineral density	2710	GK	OMIM:307030
HP:0004349	Reduced bone mineral density	2592	GALT	ORPHA:79239
HP:0004349	Reduced bone mineral density	64135	IFIH1	OMIM:182250
HP:0004349	Reduced bone mineral density	427	ASAH1	ORPHA:333
HP:0004349	Reduced bone mineral density	84196	USP48	ORPHA:96253
HP:0004349	Reduced bone mineral density	7157	TP53	ORPHA:96253
HP:0004349	Reduced bone mineral density	9101	USP8	ORPHA:96253
HP:0004349	Reduced bone mineral density	9101	USP8	OMIM:219090
HP:0004349	Reduced bone mineral density	2908	NR3C1	ORPHA:96253
HP:0004349	Reduced bone mineral density	673	BRAF	ORPHA:96253
HP:0004349	Reduced bone mineral density	546	ATRX	ORPHA:96253
HP:0004349	Reduced bone mineral density	22930	RAB3GAP1	OMIM:600118
HP:0004349	Reduced bone mineral density	165	AEBP1	OMIM:618000
HP:0004349	Reduced bone mineral density	5257	PHKB	ORPHA:79240
HP:0004349	Reduced bone mineral density	92344	GORAB	OMIM:231070
HP:0004349	Reduced bone mineral density	92344	GORAB	ORPHA:2078
HP:0004349	Reduced bone mineral density	6678	SPARC	OMIM:616507
HP:0004349	Reduced bone mineral density	9719	ADAMTSL2	ORPHA:1901
HP:0004349	Reduced bone mineral density	9509	ADAMTS2	ORPHA:1901
HP:0004349	Reduced bone mineral density	3248	HPGD	ORPHA:2796
HP:0004349	Reduced bone mineral density	3248	HPGD	OMIM:259100
HP:0004349	Reduced bone mineral density	6578	SLCO2A1	ORPHA:2796
HP:0004349	Reduced bone mineral density	7389	UROD	ORPHA:95159
HP:0004349	Reduced bone mineral density	1583	CYP11A1	ORPHA:289548
HP:0004349	Reduced bone mineral density	1583	CYP11A1	ORPHA:168558
HP:0004349	Reduced bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0004349	Reduced bone mineral density	23395	LARS2	OMIM:615300
HP:0004349	Reduced bone mineral density	860	RUNX2	ORPHA:1452
HP:0004349	Reduced bone mineral density	57817	HAMP	ORPHA:79230
HP:0004349	Reduced bone mineral density	148738	HJV	ORPHA:79230
HP:0004349	Reduced bone mineral density	4763	NF1	ORPHA:97685
HP:0004349	Reduced bone mineral density	60386	SLC25A19	ORPHA:99742
HP:0004349	Reduced bone mineral density	650	BMP2	OMIM:235200
HP:0004349	Reduced bone mineral density	9150	CTDP1	ORPHA:48431
HP:0004349	Reduced bone mineral density	55651	NHP2	OMIM:224230
HP:0004349	Reduced bone mineral density	55651	NHP2	ORPHA:1775
HP:0004349	Reduced bone mineral density	55505	NOP10	OMIM:224230
HP:0004349	Reduced bone mineral density	55505	NOP10	ORPHA:1775
HP:0004349	Reduced bone mineral density	9368	NHERF1	OMIM:612287
HP:0004349	Reduced bone mineral density	2588	GALNS	OMIM:253000
HP:0004349	Reduced bone mineral density	6569	SLC34A1	OMIM:612286
HP:0004349	Reduced bone mineral density	5352	PLOD2	ORPHA:2771
HP:0004349	Reduced bone mineral density	60681	FKBP10	ORPHA:2771
HP:0004349	Reduced bone mineral density	60681	FKBP10	OMIM:259450
HP:0004349	Reduced bone mineral density	3594	IL12RB1	ORPHA:186
HP:0004349	Reduced bone mineral density	23534	TNPO3	ORPHA:186
HP:0004349	Reduced bone mineral density	3592	IL12A	ORPHA:186
HP:0004349	Reduced bone mineral density	6689	SPIB	ORPHA:186
HP:0004349	Reduced bone mineral density	5450	POU2AF1	ORPHA:186
HP:0004349	Reduced bone mineral density	9966	TNFSF15	ORPHA:186
HP:0004349	Reduced bone mineral density	79258	MMEL1	ORPHA:186
HP:0004349	Reduced bone mineral density	3663	IRF5	ORPHA:186
HP:0004349	Reduced bone mineral density	100147744	RNU7-1	OMIM:619487
HP:0004349	Reduced bone mineral density	285590	SH3PXD2B	OMIM:249420
HP:0004349	Reduced bone mineral density	79983	POF1B	OMIM:300604
HP:0004349	Reduced bone mineral density	3295	HSD17B4	OMIM:233400
HP:0004349	Reduced bone mineral density	126792	B3GALT6	OMIM:271640
HP:0004349	Reduced bone mineral density	126792	B3GALT6	ORPHA:536467
HP:0004349	Reduced bone mineral density	55252	ASXL2	OMIM:617190
HP:0004349	Reduced bone mineral density	11014	KDELR2	OMIM:619131
HP:0004349	Reduced bone mineral density	100151683	RNU4ATAC	ORPHA:2636
HP:0004349	Reduced bone mineral density	8815	BANF1	OMIM:614008
HP:0004349	Reduced bone mineral density	55811	ADCY10	ORPHA:2197
HP:0004349	Reduced bone mineral density	166929	SGMS2	OMIM:126550
HP:0004349	Reduced bone mineral density	80169	CTC1	OMIM:612199
HP:0004349	Reduced bone mineral density	80169	CTC1	ORPHA:1775
HP:0004349	Reduced bone mineral density	79650	USB1	ORPHA:1775
HP:0004349	Reduced bone mineral density	55135	WRAP53	ORPHA:1775
HP:0004349	Reduced bone mineral density	51750	RTEL1	ORPHA:1775
HP:0004349	Reduced bone mineral density	4869	NPM1	ORPHA:1775
HP:0004349	Reduced bone mineral density	5073	PARN	ORPHA:1775
HP:0004349	Reduced bone mineral density	7298	TYMS	ORPHA:1775
HP:0004349	Reduced bone mineral density	10892	MALT1	OMIM:615468
HP:0004349	Reduced bone mineral density	7390	UROS	ORPHA:79277
HP:0004349	Reduced bone mineral density	2623	GATA1	ORPHA:79277
HP:0004349	Reduced bone mineral density	1497	CTNS	OMIM:219800
HP:0004349	Reduced bone mineral density	1497	CTNS	ORPHA:411629
HP:0004349	Reduced bone mineral density	1497	CTNS	OMIM:219900
HP:0004349	Reduced bone mineral density	5251	PHEX	ORPHA:89936
HP:0004349	Reduced bone mineral density	5251	PHEX	OMIM:307800
HP:0004349	Reduced bone mineral density	8074	FGF23	ORPHA:89937
HP:0004349	Reduced bone mineral density	8074	FGF23	OMIM:193100
HP:0004349	Reduced bone mineral density	1184	CLCN5	OMIM:300554
HP:0004349	Reduced bone mineral density	1184	CLCN5	OMIM:300009
HP:0004349	Reduced bone mineral density	6521	SLC4A1	OMIM:611590
HP:0004349	Reduced bone mineral density	142680	SLC34A3	OMIM:241530
HP:0004349	Reduced bone mineral density	1594	CYP27B1	ORPHA:289157
HP:0004349	Reduced bone mineral density	1594	CYP27B1	OMIM:264700
HP:0004349	Reduced bone mineral density	120227	CYP2R1	ORPHA:289157
HP:0004349	Reduced bone mineral density	120227	CYP2R1	OMIM:600081
HP:0004349	Reduced bone mineral density	570	BAAT	OMIM:619232
HP:0004349	Reduced bone mineral density	249	ALPL	OMIM:146300
HP:0004349	Reduced bone mineral density	4952	OCRL	OMIM:309000
HP:0004349	Reduced bone mineral density	6718	AKR1D1	ORPHA:79303
HP:0004349	Reduced bone mineral density	2628	GATM	OMIM:134600
HP:0004349	Reduced bone mineral density	1962	EHHADH	OMIM:615605
HP:0004349	Reduced bone mineral density	9414	TJP2	OMIM:607748
HP:0004349	Reduced bone mineral density	3172	HNF4A	OMIM:616026
HP:0004349	Reduced bone mineral density	50617	ATP6V0A4	OMIM:602722
HP:0004349	Reduced bone mineral density	1758	DMP1	OMIM:241520
HP:0004349	Reduced bone mineral density	7421	VDR	OMIM:277440
HP:0004349	Reduced bone mineral density	368	ABCC6	ORPHA:51608
HP:0004349	Reduced bone mineral density	6850	SYK	OMIM:619381
HP:0004349	Reduced bone mineral density	1175	AP2S1	OMIM:600740
HP:0004349	Reduced bone mineral density	137682	NDUFAF6	ORPHA:3337
HP:0004349	Reduced bone mineral density	79879	CCDC134	OMIM:619795
HP:0004349	Reduced bone mineral density	6424	SFRP4	OMIM:265900
HP:0004349	Reduced bone mineral density	2132	EXT2	OMIM:616682
HP:0004349	Reduced bone mineral density	2132	EXT2	ORPHA:466926
HP:0004349	Reduced bone mineral density	2335	FN1	ORPHA:93315
HP:0004349	Reduced bone mineral density	55325	UFSP2	OMIM:617974
HP:0004349	Reduced bone mineral density	5604	MAP2K1	OMIM:615279
HP:0004349	Reduced bone mineral density	2767	GNA11	ORPHA:428
HP:0004349	Reduced bone mineral density	2767	GNA11	ORPHA:1556
HP:0004349	Reduced bone mineral density	846	CASR	ORPHA:428
HP:0004349	Reduced bone mineral density	7305	TYROBP	ORPHA:2770
HP:0004349	Reduced bone mineral density	5184	PEPD	ORPHA:742
HP:0004349	Reduced bone mineral density	1186	CLCN7	ORPHA:667
HP:0004349	Reduced bone mineral density	29887	SNX10	ORPHA:667
HP:0004349	Reduced bone mineral density	8600	TNFSF11	ORPHA:667
HP:0004349	Reduced bone mineral density	8720	MBTPS1	OMIM:618392
HP:0004349	Reduced bone mineral density	9131	AIFM1	ORPHA:83629
HP:0004349	Reduced bone mineral density	221496	LEMD2	OMIM:619322
HP:0004349	Reduced bone mineral density	4773	NFATC2	OMIM:620232
HP:0004349	Reduced bone mineral density	151188	ARL6IP6	ORPHA:1556
HP:0004349	Reduced bone mineral density	6335	SCN9A	ORPHA:970
HP:0004349	Reduced bone mineral density	65125	WNK1	ORPHA:970
HP:0004349	Reduced bone mineral density	54463	RETREG1	ORPHA:970
HP:0004349	Reduced bone mineral density	547	KIF1A	ORPHA:970
HP:0004349	Reduced bone mineral density	1027	CDKN1B	ORPHA:652
HP:0004349	Reduced bone mineral density	1026	CDKN1A	ORPHA:652
HP:0004349	Reduced bone mineral density	1030	CDKN2B	ORPHA:652
HP:0004349	Reduced bone mineral density	1031	CDKN2C	ORPHA:652
HP:0004349	Reduced bone mineral density	4693	NDP	ORPHA:891
HP:0004349	Reduced bone mineral density	1499	CTNNB1	ORPHA:891
HP:0004349	Reduced bone mineral density	23554	TSPAN12	ORPHA:891
HP:0004349	Reduced bone mineral density	79797	ZNF408	ORPHA:891
HP:0004349	Reduced bone mineral density	8322	FZD4	ORPHA:891
HP:0004349	Reduced bone mineral density	55898	UNC45A	OMIM:619377
HP:0004349	Reduced bone mineral density	672	BRCA1	ORPHA:84
HP:0004349	Reduced bone mineral density	10459	MAD2L2	ORPHA:84
HP:0004349	Reduced bone mineral density	7516	XRCC2	ORPHA:84
HP:0004349	Reduced bone mineral density	29089	UBE2T	ORPHA:84
HP:0004349	Reduced bone mineral density	675	BRCA2	ORPHA:84
HP:0004349	Reduced bone mineral density	55120	FANCL	ORPHA:84
HP:0004349	Reduced bone mineral density	2177	FANCD2	ORPHA:84
HP:0004349	Reduced bone mineral density	2175	FANCA	ORPHA:84
HP:0004349	Reduced bone mineral density	2187	FANCB	ORPHA:84
HP:0004349	Reduced bone mineral density	2176	FANCC	ORPHA:84
HP:0004349	Reduced bone mineral density	2178	FANCE	ORPHA:84
HP:0004349	Reduced bone mineral density	2188	FANCF	ORPHA:84
HP:0004349	Reduced bone mineral density	2189	FANCG	ORPHA:84
HP:0004349	Reduced bone mineral density	5888	RAD51	ORPHA:84
HP:0004349	Reduced bone mineral density	5889	RAD51C	ORPHA:84
HP:0004349	Reduced bone mineral density	55159	RFWD3	ORPHA:84
HP:0004349	Reduced bone mineral density	83990	BRIP1	ORPHA:84
HP:0004349	Reduced bone mineral density	57697	FANCM	ORPHA:84
HP:0004349	Reduced bone mineral density	79728	PALB2	ORPHA:84
HP:0004349	Reduced bone mineral density	84464	SLX4	ORPHA:84
HP:0004349	Reduced bone mineral density	2072	ERCC4	ORPHA:84
HP:0004349	Reduced bone mineral density	55215	FANCI	ORPHA:84
HP:0004349	Reduced bone mineral density	8481	OFD1	ORPHA:2750
HP:0004349	Reduced bone mineral density	51608	GET4	OMIM:620200
HP:0004349	Reduced bone mineral density	2717	GLA	ORPHA:324
HP:0004349	Reduced bone mineral density	3081	HGD	ORPHA:56
HP:0004349	Reduced bone mineral density	114548	NLRP3	ORPHA:1451
HP:0004349	Reduced bone mineral density	8883	NAE1	OMIM:620210
HP:0004349	Reduced bone mineral density	10371	SEMA3A	ORPHA:478
HP:0004349	Reduced bone mineral density	79625	NDNF	ORPHA:478
HP:0004349	Reduced bone mineral density	389549	FEZF1	ORPHA:478
HP:0004349	Reduced bone mineral density	1630	DCC	ORPHA:478
HP:0004349	Reduced bone mineral density	3730	ANOS1	ORPHA:478
HP:0004349	Reduced bone mineral density	6663	SOX10	ORPHA:478
HP:0004349	Reduced bone mineral density	285025	CCDC141	ORPHA:478
HP:0004349	Reduced bone mineral density	5728	PTEN	ORPHA:137608
HP:0004349	Reduced bone mineral density	4322	MMP13	ORPHA:2501
HP:0004349	Reduced bone mineral density	5442	POLRMT	OMIM:619743
HP:0004349	Reduced bone mineral density	4665	NAB2	ORPHA:2126
HP:0004349	Reduced bone mineral density	6778	STAT6	ORPHA:2126
HP:0004349	Reduced bone mineral density	1277	COL1A1	OMIM:259420
HP:0004349	Reduced bone mineral density	1278	COL1A2	OMIM:259420
HP:0004349	Reduced bone mineral density	65992	DDRGK1	ORPHA:93352
HP:0004349	Reduced bone mineral density	2184	FAH	ORPHA:882
HP:0004349	Reduced bone mineral density	5167	ENPP1	ORPHA:289176
HP:0004349	Reduced bone mineral density	3930	LBR	OMIM:215140
HP:0004349	Reduced bone mineral density	1280	COL2A1	OMIM:608805
HP:0004349	Reduced bone mineral density	9469	CHST3	OMIM:245600
HP:0004349	Reduced bone mineral density	26229	B3GAT3	OMIM:245600
HP:0004349	Reduced bone mineral density	26137	ZBTB20	OMIM:259050
HP:0004349	Reduced bone mineral density	6772	STAT1	ORPHA:391487
HP:0004349	Reduced bone mineral density	10043	TOM1	ORPHA:391487
HP:0004349	Reduced bone mineral density	8838	CCN6	ORPHA:1159
HP:0004349	Reduced bone mineral density	55603	TENT5A	OMIM:617952
HP:0004349	Reduced bone mineral density	23314	SATB2	OMIM:612313
HP:0004349	Reduced bone mineral density	875	CBS	OMIM:236200
HP:0004349	Reduced bone mineral density	4221	MEN1	ORPHA:99879
HP:0004349	Reduced bone mineral density	9247	GCM2	ORPHA:99879
HP:0004349	Reduced bone mineral density	79577	CDC73	ORPHA:99879
HP:0004349	Reduced bone mineral density	4000	LMNA	OMIM:176670
HP:0004349	Reduced bone mineral density	121340	SP7	OMIM:613849
HP:0004349	Reduced bone mineral density	4323	MMP14	OMIM:277950
HP:0004349	Reduced bone mineral density	5654	HTRA1	ORPHA:199354
HP:0004349	Reduced bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0030200	Fatiguable weakness of proximal limb muscles	51305	KCNK9	ORPHA:166108
HP:0030200	Fatiguable weakness of proximal limb muscles	10342	TFG	ORPHA:90117
HP:0030200	Fatiguable weakness of proximal limb muscles	2318	FLNC	ORPHA:63273
HP:0030200	Fatiguable weakness of proximal limb muscles	84196	USP48	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	7157	TP53	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	9101	USP8	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	64072	CDH23	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	2908	NR3C1	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	673	BRAF	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	546	ATRX	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	58	ACTA1	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	7169	TPM2	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	7169	TPM2	ORPHA:171881
HP:0030200	Fatiguable weakness of proximal limb muscles	4703	NEB	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	10324	KLHL41	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	56203	LMOD3	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	1073	CFL2	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	844	CASQ1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	84876	ORAI1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	6786	STIM1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	23345	SYNE1	ORPHA:319332
HP:0030200	Fatiguable weakness of proximal limb muscles	84665	MYPN	ORPHA:171881
HP:0030200	Fatiguable weakness of proximal limb muscles	7170	TPM3	ORPHA:171881
HP:0004352	Abnormal circulating purine concentration	7498	XDH	OMIM:278300
HP:0004352	Abnormal circulating purine concentration	4860	PNP	OMIM:613179
HP:0004352	Abnormal circulating purine concentration	55034	MOCOS	OMIM:603592
HP:0004353	Abnormal circulating pyrimidine concentration	5009	OTC	OMIM:311250
HP:0004353	Abnormal circulating pyrimidine concentration	1890	TYMP	OMIM:603041
HP:0004353	Abnormal circulating pyrimidine concentration	5428	POLG	OMIM:603041
HP:0004353	Abnormal circulating pyrimidine concentration	1807	DPYS	OMIM:222748
HP:0004354	Abnormal circulating carboxylic acid concentration	2731	GLDC	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	275	AMT	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	8802	SUCLG1	OMIM:245400
HP:0004354	Abnormal circulating carboxylic acid concentration	100303755	PET117	OMIM:619063
HP:0004354	Abnormal circulating carboxylic acid concentration	29968	PSAT1	ORPHA:284417
HP:0004354	Abnormal circulating carboxylic acid concentration	27247	NFU1	OMIM:605711
HP:0004354	Abnormal circulating carboxylic acid concentration	348932	SLC6A18	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	153201	SLC36A2	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	54716	SLC6A20	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	340024	SLC6A19	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	200205	IBA57	OMIM:615330
HP:0004354	Abnormal circulating carboxylic acid concentration	55532	SLC30A10	ORPHA:309854
HP:0004354	Abnormal circulating carboxylic acid concentration	388962	BOLA3	OMIM:614299
HP:0004354	Abnormal circulating carboxylic acid concentration	51218	GLRX5	OMIM:616859
HP:0004354	Abnormal circulating carboxylic acid concentration	326625	MMAB	OMIM:251110
HP:0004354	Abnormal circulating carboxylic acid concentration	4594	MMUT	OMIM:251000
HP:0004354	Abnormal circulating carboxylic acid concentration	132158	GLYCTK	ORPHA:941
HP:0004354	Abnormal circulating carboxylic acid concentration	166785	MMAA	OMIM:251100
HP:0004354	Abnormal circulating carboxylic acid concentration	5095	PCCA	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	5096	PCCB	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	4522	MTHFD1	OMIM:617780
HP:0004354	Abnormal circulating carboxylic acid concentration	4953	ODC1	OMIM:619075
HP:0004354	Abnormal circulating carboxylic acid concentration	229	ALDOB	OMIM:229600
HP:0004354	Abnormal circulating carboxylic acid concentration	2936	GSR	OMIM:618660
HP:0004354	Abnormal circulating carboxylic acid concentration	6711	SPTBN1	OMIM:619475
HP:0004354	Abnormal circulating carboxylic acid concentration	222546	RFX6	OMIM:615710
HP:0004354	Abnormal circulating carboxylic acid concentration	100151683	RNU4ATAC	OMIM:210710
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	OMIM:616649
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	57539	WDR35	OMIM:613610
HP:0004354	Abnormal circulating carboxylic acid concentration	9420	CYP7B1	OMIM:613812
HP:0004354	Abnormal circulating carboxylic acid concentration	9420	CYP7B1	ORPHA:79302
HP:0004354	Abnormal circulating carboxylic acid concentration	286	ANK1	OMIM:182900
HP:0004354	Abnormal circulating carboxylic acid concentration	286	ANK1	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	2038	EPB42	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6708	SPTA1	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6708	SPTA1	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	7849	PAX8	OMIM:218700
HP:0004354	Abnormal circulating carboxylic acid concentration	5443	POMC	OMIM:609734
HP:0004354	Abnormal circulating carboxylic acid concentration	6573	SLC19A1	OMIM:601775
HP:0004354	Abnormal circulating carboxylic acid concentration	374879	ZNF699	OMIM:619488
HP:0004354	Abnormal circulating carboxylic acid concentration	3098	HK1	OMIM:235700
HP:0004354	Abnormal circulating carboxylic acid concentration	226	ALDOA	OMIM:611881
HP:0004354	Abnormal circulating carboxylic acid concentration	5015	OTX2	OMIM:613986
HP:0004354	Abnormal circulating carboxylic acid concentration	9338	TCEAL1	OMIM:301094
HP:0004354	Abnormal circulating carboxylic acid concentration	540	ATP7B	OMIM:277900
HP:0004354	Abnormal circulating carboxylic acid concentration	2271	FH	OMIM:606812
HP:0004354	Abnormal circulating carboxylic acid concentration	9968	MED12	OMIM:301068
HP:0004354	Abnormal circulating carboxylic acid concentration	9493	KIF23	ORPHA:98870
HP:0004354	Abnormal circulating carboxylic acid concentration	29127	RACGAP1	ORPHA:98870
HP:0004354	Abnormal circulating carboxylic acid concentration	3930	LBR	OMIM:613471
HP:0004354	Abnormal circulating carboxylic acid concentration	8260	NAA10	OMIM:300855
HP:0004354	Abnormal circulating carboxylic acid concentration	5824	PEX19	OMIM:614886
HP:0004354	Abnormal circulating carboxylic acid concentration	9451	EIF2AK3	ORPHA:1667
HP:0004354	Abnormal circulating carboxylic acid concentration	1716	DGUOK	OMIM:251880
HP:0004354	Abnormal circulating carboxylic acid concentration	28962	OSTM1	OMIM:259720
HP:0004354	Abnormal circulating carboxylic acid concentration	2035	EPB41	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	2995	GYPC	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	4547	MTTP	ORPHA:14
HP:0004354	Abnormal circulating carboxylic acid concentration	146059	CDAN1	OMIM:224120
HP:0004354	Abnormal circulating carboxylic acid concentration	5230	PGK1	ORPHA:713
HP:0004354	Abnormal circulating carboxylic acid concentration	6006	RHCE	ORPHA:71275
HP:0004354	Abnormal circulating carboxylic acid concentration	6007	RHD	ORPHA:71275
HP:0004354	Abnormal circulating carboxylic acid concentration	6309	SC5D	OMIM:607330
HP:0004354	Abnormal circulating carboxylic acid concentration	1244	ABCC2	ORPHA:234
HP:0004354	Abnormal circulating carboxylic acid concentration	1244	ABCC2	OMIM:237500
HP:0004354	Abnormal circulating carboxylic acid concentration	80270	HSD3B7	OMIM:607765
HP:0004354	Abnormal circulating carboxylic acid concentration	3376	IARS1	OMIM:617093
HP:0004354	Abnormal circulating carboxylic acid concentration	79989	IFT56	OMIM:619534
HP:0004354	Abnormal circulating carboxylic acid concentration	26503	SLC17A5	OMIM:269920
HP:0004354	Abnormal circulating carboxylic acid concentration	570	BAAT	OMIM:619232
HP:0004354	Abnormal circulating carboxylic acid concentration	5828	PEX2	OMIM:614866
HP:0004354	Abnormal circulating carboxylic acid concentration	5195	PEX14	OMIM:614887
HP:0004354	Abnormal circulating carboxylic acid concentration	6513	SLC2A1	ORPHA:168577
HP:0004354	Abnormal circulating carboxylic acid concentration	6513	SLC2A1	OMIM:608885
HP:0004354	Abnormal circulating carboxylic acid concentration	28234	SLCO1B3	OMIM:237450
HP:0004354	Abnormal circulating carboxylic acid concentration	28234	SLCO1B3	ORPHA:3111
HP:0004354	Abnormal circulating carboxylic acid concentration	10599	SLCO1B1	OMIM:237450
HP:0004354	Abnormal circulating carboxylic acid concentration	10599	SLCO1B1	ORPHA:3111
HP:0004354	Abnormal circulating carboxylic acid concentration	197131	UBR1	OMIM:243800
HP:0004354	Abnormal circulating carboxylic acid concentration	3594	IL12RB1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	23534	TNPO3	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	3592	IL12A	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	6689	SPIB	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	5450	POU2AF1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	9966	TNFSF15	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	79258	MMEL1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	3663	IRF5	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	200931	SLC51A	OMIM:619484
HP:0004354	Abnormal circulating carboxylic acid concentration	63894	VIPAS39	OMIM:613404
HP:0004354	Abnormal circulating carboxylic acid concentration	4552	MTRR	OMIM:236270
HP:0004354	Abnormal circulating carboxylic acid concentration	8803	SUCLA2	OMIM:612073
HP:0004354	Abnormal circulating carboxylic acid concentration	3054	HCFC1	OMIM:309541
HP:0004354	Abnormal circulating carboxylic acid concentration	4329	ALDH6A1	OMIM:614105
HP:0004354	Abnormal circulating carboxylic acid concentration	51293	CD320	OMIM:613646
HP:0004354	Abnormal circulating carboxylic acid concentration	4548	MTR	OMIM:250940
HP:0004354	Abnormal circulating carboxylic acid concentration	27249	MMADHC	OMIM:277410
HP:0004354	Abnormal circulating carboxylic acid concentration	5052	PRDX1	OMIM:277400
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL	ORPHA:23
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL	OMIM:207900
HP:0004354	Abnormal circulating carboxylic acid concentration	445	ASS1	OMIM:215700
HP:0004354	Abnormal circulating carboxylic acid concentration	2744	GLS	OMIM:618412
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD	OMIM:276710
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD	OMIM:140350
HP:0004354	Abnormal circulating carboxylic acid concentration	6898	TAT	OMIM:276600
HP:0004354	Abnormal circulating carboxylic acid concentration	617	BCS1L	OMIM:124000
HP:0004354	Abnormal circulating carboxylic acid concentration	1497	CTNS	OMIM:219800
HP:0004354	Abnormal circulating carboxylic acid concentration	1738	DLD	ORPHA:2394
HP:0004354	Abnormal circulating carboxylic acid concentration	3155	HMGCL	OMIM:246450
HP:0004354	Abnormal circulating carboxylic acid concentration	4556	MT-TE	ORPHA:254864
HP:0004354	Abnormal circulating carboxylic acid concentration	55687	TRMU	ORPHA:254864
HP:0004354	Abnormal circulating carboxylic acid concentration	37	ACADVL	OMIM:201475
HP:0004354	Abnormal circulating carboxylic acid concentration	4695	NDUFA2	OMIM:618235
HP:0004354	Abnormal circulating carboxylic acid concentration	34	ACADM	OMIM:201450
HP:0004354	Abnormal circulating carboxylic acid concentration	1294	COL7A1	ORPHA:89842
HP:0004354	Abnormal circulating carboxylic acid concentration	27034	ACAD8	OMIM:611283
HP:0004354	Abnormal circulating carboxylic acid concentration	27034	ACAD8	ORPHA:79159
HP:0004354	Abnormal circulating carboxylic acid concentration	3033	HADH	ORPHA:71212
HP:0004354	Abnormal circulating carboxylic acid concentration	28976	ACAD9	ORPHA:99901
HP:0004354	Abnormal circulating carboxylic acid concentration	64087	MCCC2	OMIM:210210
HP:0004354	Abnormal circulating carboxylic acid concentration	788	SLC25A20	ORPHA:159
HP:0004354	Abnormal circulating carboxylic acid concentration	1962	EHHADH	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	2628	GATM	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	6569	SLC34A1	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	6584	SLC22A5	OMIM:212140
HP:0004354	Abnormal circulating carboxylic acid concentration	191	AHCY	OMIM:613752
HP:0004354	Abnormal circulating carboxylic acid concentration	191	AHCY	ORPHA:88618
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004354	Abnormal circulating carboxylic acid concentration	132	ADK	OMIM:614300
HP:0004354	Abnormal circulating carboxylic acid concentration	875	CBS	OMIM:236200
HP:0004354	Abnormal circulating carboxylic acid concentration	4143	MAT1A	OMIM:250850
HP:0004354	Abnormal circulating carboxylic acid concentration	2184	FAH	OMIM:276700
HP:0004354	Abnormal circulating carboxylic acid concentration	27232	GNMT	OMIM:606664
HP:0004354	Abnormal circulating carboxylic acid concentration	9652	SKIC3	OMIM:222470
HP:0004354	Abnormal circulating carboxylic acid concentration	7019	TFAM	OMIM:617156
HP:0004354	Abnormal circulating carboxylic acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0004354	Abnormal circulating carboxylic acid concentration	3479	IGF1	ORPHA:73272
HP:0004354	Abnormal circulating carboxylic acid concentration	7355	SLC35A2	OMIM:300896
HP:0004354	Abnormal circulating carboxylic acid concentration	1371	CPOX	OMIM:618892
HP:0004354	Abnormal circulating carboxylic acid concentration	2876	GPX1	OMIM:614164
HP:0004354	Abnormal circulating carboxylic acid concentration	405753	DUOXA2	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	6528	SLC5A5	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	7038	TG	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	7173	TPO	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	389434	IYD	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	50506	DUOX2	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	7319	UBE2A	ORPHA:163956
HP:0004354	Abnormal circulating carboxylic acid concentration	5048	PAFAH1B1	ORPHA:95232
HP:0004354	Abnormal circulating carboxylic acid concentration	7253	TSHR	ORPHA:90673
HP:0004354	Abnormal circulating carboxylic acid concentration	7252	TSHB	ORPHA:90674
HP:0004354	Abnormal circulating carboxylic acid concentration	1491	CTH	ORPHA:212
HP:0004354	Abnormal circulating carboxylic acid concentration	4524	MTHFR	ORPHA:395
HP:0004354	Abnormal circulating carboxylic acid concentration	9056	SLC7A7	ORPHA:470
HP:0004354	Abnormal circulating carboxylic acid concentration	5091	PC	OMIM:266150
HP:0004354	Abnormal circulating carboxylic acid concentration	55768	NGLY1	OMIM:615273
HP:0004354	Abnormal circulating carboxylic acid concentration	26235	FBXL4	OMIM:615471
HP:0004354	Abnormal circulating carboxylic acid concentration	54914	FOCAD	OMIM:619991
HP:0004354	Abnormal circulating carboxylic acid concentration	498	ATP5F1A	OMIM:616045
HP:0004354	Abnormal circulating carboxylic acid concentration	498	ATP5F1A	OMIM:620358
HP:0004354	Abnormal circulating carboxylic acid concentration	11222	MRPL3	OMIM:614582
HP:0004354	Abnormal circulating carboxylic acid concentration	10059	DNM1L	OMIM:614388
HP:0004354	Abnormal circulating carboxylic acid concentration	25821	MTO1	OMIM:614702
HP:0004354	Abnormal circulating carboxylic acid concentration	90624	LYRM7	OMIM:615838
HP:0004354	Abnormal circulating carboxylic acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0004354	Abnormal circulating carboxylic acid concentration	57176	VARS2	OMIM:615917
HP:0004354	Abnormal circulating carboxylic acid concentration	2203	FBP1	ORPHA:348
HP:0004354	Abnormal circulating carboxylic acid concentration	80222	TARS2	OMIM:615918
HP:0004354	Abnormal circulating carboxylic acid concentration	4535	MT-ND1	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4536	MT-ND2	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4537	MT-ND3	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4538	MT-ND4	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4567	MT-TL1	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4578	MT-TW	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4577	MT-TV	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4540	MT-ND5	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4541	MT-ND6	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4566	MT-TK	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	8050	PDHX	OMIM:245349
HP:0004354	Abnormal circulating carboxylic acid concentration	4716	NDUFB10	OMIM:619003
HP:0004354	Abnormal circulating carboxylic acid concentration	6341	SCO1	OMIM:619048
HP:0004354	Abnormal circulating carboxylic acid concentration	5160	PDHA1	OMIM:312170
HP:0004354	Abnormal circulating carboxylic acid concentration	1352	COX10	OMIM:619046
HP:0004354	Abnormal circulating carboxylic acid concentration	387787	LIPT2	OMIM:617668
HP:0004354	Abnormal circulating carboxylic acid concentration	1841	DTYMK	OMIM:619847
HP:0004354	Abnormal circulating carboxylic acid concentration	4285	MIPEP	OMIM:617228
HP:0004354	Abnormal circulating carboxylic acid concentration	54931	TRMT10C	OMIM:616974
HP:0004354	Abnormal circulating carboxylic acid concentration	5428	POLG	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	1890	TYMP	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	3980	LIG3	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	50484	RRM2B	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	1340	COX6B1	OMIM:619051
HP:0004354	Abnormal circulating carboxylic acid concentration	90161	HS6ST2	OMIM:301025
HP:0004354	Abnormal circulating carboxylic acid concentration	4718	NDUFC2	OMIM:619170
HP:0004354	Abnormal circulating carboxylic acid concentration	1351	COX8A	OMIM:619059
HP:0004354	Abnormal circulating carboxylic acid concentration	51116	MRPS2	OMIM:617950
HP:0004354	Abnormal circulating carboxylic acid concentration	125988	MICOS13	OMIM:618329
HP:0004354	Abnormal circulating carboxylic acid concentration	4724	NDUFS4	OMIM:252010
HP:0004354	Abnormal circulating carboxylic acid concentration	162417	NAGS	ORPHA:927
HP:0004354	Abnormal circulating carboxylic acid concentration	51079	NDUFA13	OMIM:618249
HP:0004354	Abnormal circulating carboxylic acid concentration	291	SLC25A4	OMIM:615418
HP:0004354	Abnormal circulating carboxylic acid concentration	54704	PDP1	ORPHA:79246
HP:0004354	Abnormal circulating carboxylic acid concentration	9377	COX5A	OMIM:619064
HP:0004354	Abnormal circulating carboxylic acid concentration	55863	TMEM126B	OMIM:618250
HP:0004354	Abnormal circulating carboxylic acid concentration	54968	TMEM70	OMIM:614052
HP:0004354	Abnormal circulating carboxylic acid concentration	3735	KARS1	OMIM:619147
HP:0004354	Abnormal circulating carboxylic acid concentration	63931	MRPS14	OMIM:618378
HP:0004354	Abnormal circulating carboxylic acid concentration	9054	NFS1	OMIM:619386
HP:0004354	Abnormal circulating carboxylic acid concentration	57017	COQ9	OMIM:614654
HP:0004354	Abnormal circulating carboxylic acid concentration	84947	SERAC1	OMIM:614739
HP:0004354	Abnormal circulating carboxylic acid concentration	3000	GUCY2D	OMIM:204000
HP:0004354	Abnormal circulating carboxylic acid concentration	79783	SUGCT	ORPHA:35706
HP:0004354	Abnormal circulating carboxylic acid concentration	131118	DNAJC19	ORPHA:66634
HP:0004354	Abnormal circulating carboxylic acid concentration	2108	ETFA	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2109	ETFB	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2110	ETFDH	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2639	GCDH	OMIM:231670
HP:0004354	Abnormal circulating carboxylic acid concentration	5009	OTC	OMIM:311250
HP:0004354	Abnormal circulating carboxylic acid concentration	29960	MRM2	OMIM:618567
HP:0004354	Abnormal circulating carboxylic acid concentration	1373	CPS1	OMIM:237300
HP:0004354	Abnormal circulating carboxylic acid concentration	5105	PCK1	OMIM:261680
HP:0004354	Abnormal circulating carboxylic acid concentration	5551	PRF1	OMIM:603553
HP:0004354	Abnormal circulating carboxylic acid concentration	51601	LIPT1	OMIM:616299
HP:0004354	Abnormal circulating carboxylic acid concentration	11232	POLG2	OMIM:618528
HP:0004354	Abnormal circulating carboxylic acid concentration	5213	PFKM	OMIM:232800
HP:0004354	Abnormal circulating carboxylic acid concentration	11231	SEC63	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	5589	PRKCSH	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	5589	PRKCSH	OMIM:174050
HP:0004354	Abnormal circulating carboxylic acid concentration	4041	LRP5	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	51473	DCDC2	ORPHA:84081
HP:0004354	Abnormal circulating carboxylic acid concentration	91147	TMEM67	ORPHA:84081
HP:0004354	Abnormal circulating carboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0004354	Abnormal circulating carboxylic acid concentration	6521	SLC4A1	ORPHA:3202
HP:0004354	Abnormal circulating carboxylic acid concentration	9780	PIEZO1	ORPHA:3202
HP:0004354	Abnormal circulating carboxylic acid concentration	3783	KCNN4	ORPHA:3202
HP:0004354	Abnormal circulating carboxylic acid concentration	10841	FTCD	OMIM:229100
HP:0004354	Abnormal circulating carboxylic acid concentration	6531	SLC6A3	ORPHA:238455
HP:0004354	Abnormal circulating carboxylic acid concentration	56922	MCCC1	ORPHA:6
HP:0004354	Abnormal circulating carboxylic acid concentration	8942	KYNU	ORPHA:79155
HP:0004354	Abnormal circulating carboxylic acid concentration	5805	PTS	OMIM:261640
HP:0004354	Abnormal circulating carboxylic acid concentration	5860	QDPR	OMIM:261630
HP:0004354	Abnormal circulating carboxylic acid concentration	54658	UGT1A1	OMIM:237900
HP:0004354	Abnormal circulating carboxylic acid concentration	5313	PKLR	OMIM:266200
HP:0004354	Abnormal circulating carboxylic acid concentration	5313	PKLR	ORPHA:766
HP:0004354	Abnormal circulating carboxylic acid concentration	3043	HBB	ORPHA:232
HP:0004354	Abnormal circulating carboxylic acid concentration	374354	NHLRC2	OMIM:618278
HP:0004354	Abnormal circulating carboxylic acid concentration	10661	KLF1	OMIM:613673
HP:0004354	Abnormal circulating carboxylic acid concentration	8573	CASK	OMIM:300908
HP:0004354	Abnormal circulating carboxylic acid concentration	2539	G6PD	OMIM:300908
HP:0004354	Abnormal circulating carboxylic acid concentration	6005	RHAG	OMIM:268150
HP:0004354	Abnormal circulating carboxylic acid concentration	10056	FARSB	OMIM:613658
HP:0004354	Abnormal circulating carboxylic acid concentration	7390	UROS	ORPHA:79277
HP:0004354	Abnormal circulating carboxylic acid concentration	2623	GATA1	ORPHA:79277
HP:0004354	Abnormal circulating carboxylic acid concentration	8085	KMT2D	OMIM:620186
HP:0004354	Abnormal circulating carboxylic acid concentration	5277	PIGA	ORPHA:447
HP:0004354	Abnormal circulating carboxylic acid concentration	3664	IRF6	ORPHA:1300
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1	OMIM:128230
HP:0004354	Abnormal circulating carboxylic acid concentration	4929	NR4A2	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	3615	IMPDH2	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	5092	PCBD1	OMIM:264070
HP:0004354	Abnormal circulating carboxylic acid concentration	6697	SPR	OMIM:612716
HP:0004354	Abnormal circulating carboxylic acid concentration	1629	DBT	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	593	BCKDHA	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	594	BCKDHB	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	OMIM:600850
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	OMIM:239500
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	ORPHA:419
HP:0004354	Abnormal circulating carboxylic acid concentration	10295	BCKDK	OMIM:614923
HP:0004354	Abnormal circulating carboxylic acid concentration	55163	PNPO	ORPHA:79096
HP:0004354	Abnormal circulating carboxylic acid concentration	1757	SARDH	ORPHA:3129
HP:0004354	Abnormal circulating carboxylic acid concentration	1757	SARDH	OMIM:268900
HP:0004354	Abnormal circulating carboxylic acid concentration	131669	UROC1	ORPHA:210128
HP:0004354	Abnormal circulating carboxylic acid concentration	3034	HAL	OMIM:235800
HP:0004354	Abnormal circulating carboxylic acid concentration	3034	HAL	ORPHA:2157
HP:0004354	Abnormal circulating carboxylic acid concentration	10367	MICU1	OMIM:615673
HP:0004354	Abnormal circulating carboxylic acid concentration	152926	PPM1K	OMIM:615135
HP:0004354	Abnormal circulating carboxylic acid concentration	587	BCAT2	OMIM:618850
HP:0004354	Abnormal circulating carboxylic acid concentration	506	ATP5F1B	OMIM:620085
HP:0004354	Abnormal circulating carboxylic acid concentration	133686	NADK2	ORPHA:431361
HP:0004354	Abnormal circulating carboxylic acid concentration	1376	CPT2	OMIM:608836
HP:0004354	Abnormal circulating carboxylic acid concentration	1376	CPT2	ORPHA:228305
HP:0004354	Abnormal circulating carboxylic acid concentration	1376	CPT2	ORPHA:228308
HP:0004354	Abnormal circulating carboxylic acid concentration	4312	MMP1	ORPHA:79408
HP:0004354	Abnormal circulating carboxylic acid concentration	4942	OAT	OMIM:258870
HP:0004354	Abnormal circulating carboxylic acid concentration	4942	OAT	ORPHA:414
HP:0004354	Abnormal circulating carboxylic acid concentration	10166	SLC25A15	ORPHA:415
HP:0004354	Abnormal circulating carboxylic acid concentration	10166	SLC25A15	OMIM:238970
HP:0004354	Abnormal circulating carboxylic acid concentration	283209	PGM2L1	OMIM:620191
HP:0004354	Abnormal circulating carboxylic acid concentration	9414	TJP2	OMIM:607748
HP:0004354	Abnormal circulating carboxylic acid concentration	6888	TALDO1	ORPHA:101028
HP:0004354	Abnormal circulating carboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0004354	Abnormal circulating carboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0004354	Abnormal circulating carboxylic acid concentration	55898	UNC45A	OMIM:619377
HP:0004354	Abnormal circulating carboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0004354	Abnormal circulating carboxylic acid concentration	57003	CCDC47	OMIM:618268
HP:0004354	Abnormal circulating carboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0004354	Abnormal circulating carboxylic acid concentration	162	AP1B1	OMIM:242150
HP:0004354	Abnormal circulating carboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0004354	Abnormal circulating carboxylic acid concentration	8647	ABCB11	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	9971	NR1H4	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0004354	Abnormal circulating carboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0004354	Abnormal circulating carboxylic acid concentration	199221	DZIP1L	ORPHA:731
HP:0004354	Abnormal circulating carboxylic acid concentration	5314	PKHD1	ORPHA:731
HP:0004354	Abnormal circulating carboxylic acid concentration	134218	DNAJC21	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	79631	EFL1	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	51119	SBDS	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	6729	SRP54	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	5723	PSPH	ORPHA:79350
HP:0004354	Abnormal circulating carboxylic acid concentration	5723	PSPH	OMIM:614023
HP:0004354	Abnormal circulating carboxylic acid concentration	26227	PHGDH	ORPHA:79351
HP:0004354	Abnormal circulating carboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0004354	Abnormal circulating carboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0004354	Abnormal circulating carboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0004354	Abnormal circulating carboxylic acid concentration	84693	MCEE	OMIM:251120
HP:0004354	Abnormal circulating carboxylic acid concentration	29958	DMGDH	OMIM:605850
HP:0004354	Abnormal circulating carboxylic acid concentration	443	ASPA	OMIM:271900
HP:0004354	Abnormal circulating carboxylic acid concentration	2222	FDFT1	OMIM:618156
HP:0004354	Abnormal circulating carboxylic acid concentration	7385	UQCRC2	OMIM:615160
HP:0004354	Abnormal circulating carboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0004354	Abnormal circulating carboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0004354	Abnormal circulating carboxylic acid concentration	51241	COX16	OMIM:619355
HP:0004354	Abnormal circulating carboxylic acid concentration	23474	ETHE1	OMIM:602473
HP:0004354	Abnormal circulating carboxylic acid concentration	123264	SLC51B	OMIM:619481
HP:0004354	Abnormal circulating carboxylic acid concentration	3028	HSD17B10	OMIM:300438
HP:0004354	Abnormal circulating carboxylic acid concentration	55670	PEX26	OMIM:614872
HP:0004354	Abnormal circulating carboxylic acid concentration	2593	GAMT	OMIM:612736
HP:0004354	Abnormal circulating carboxylic acid concentration	501	ALDH7A1	OMIM:266100
HP:0004354	Abnormal circulating carboxylic acid concentration	644	BLVRA	OMIM:614156
HP:0004354	Abnormal circulating carboxylic acid concentration	51733	UPB1	OMIM:613161
HP:0004354	Abnormal circulating carboxylic acid concentration	197322	ACSF3	ORPHA:289504
HP:0004354	Abnormal circulating carboxylic acid concentration	3418	IDH2	OMIM:613657
HP:0004354	Abnormal circulating carboxylic acid concentration	79944	L2HGDH	OMIM:236792
HP:0004354	Abnormal circulating carboxylic acid concentration	35	ACADS	ORPHA:26792
HP:0004354	Abnormal circulating carboxylic acid concentration	55065	SLC52A1	OMIM:615026
HP:0004354	Abnormal circulating carboxylic acid concentration	128989	TANGO2	OMIM:616878
HP:0004354	Abnormal circulating carboxylic acid concentration	128989	TANGO2	ORPHA:480864
HP:0004354	Abnormal circulating carboxylic acid concentration	3030	HADHA	OMIM:609015
HP:0004354	Abnormal circulating carboxylic acid concentration	5053	PAH	OMIM:261600
HP:0004354	Abnormal circulating carboxylic acid concentration	5244	ABCB4	OMIM:614972
HP:0004354	Abnormal circulating carboxylic acid concentration	5205	ATP8B1	OMIM:147480
HP:0004354	Abnormal circulating carboxylic acid concentration	54532	USP53	OMIM:619658
HP:0004354	Abnormal circulating carboxylic acid concentration	7915	ALDH5A1	OMIM:271980
HP:0004354	Abnormal circulating carboxylic acid concentration	4353	MPO	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	4846	NOS3	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	3077	HFE	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	351	APP	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	5328	PLAU	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	2592	GALT	OMIM:230400
HP:0004354	Abnormal circulating carboxylic acid concentration	6999	TDO2	OMIM:600627
HP:0004354	Abnormal circulating carboxylic acid concentration	2752	GLUL	OMIM:610015
HP:0004354	Abnormal circulating carboxylic acid concentration	4190	MDH1	OMIM:618959
HP:0004354	Abnormal circulating carboxylic acid concentration	4780	NFE2L2	OMIM:617744
HP:0004354	Abnormal circulating carboxylic acid concentration	10243	GPHN	OMIM:615501
HP:0004354	Abnormal circulating carboxylic acid concentration	383	ARG1	OMIM:207800
HP:0004354	Abnormal circulating carboxylic acid concentration	10157	AASS	ORPHA:2203
HP:0004354	Abnormal circulating carboxylic acid concentration	763	CA5A	OMIM:615751
HP:0004354	Abnormal circulating carboxylic acid concentration	5832	ALDH18A1	OMIM:219150
HP:0004356	Abnormality of lysosomal metabolism	4982	TNFRSF11B	OMIM:239000
HP:0004356	Abnormality of lysosomal metabolism	4041	LRP5	OMIM:607634
HP:0004356	Abnormality of lysosomal metabolism	4952	OCRL	OMIM:309000
HP:0004356	Abnormality of lysosomal metabolism	760	CA2	OMIM:259730
HP:0004356	Abnormality of lysosomal metabolism	760	CA2	ORPHA:2785
HP:0004356	Abnormality of lysosomal metabolism	1186	CLCN7	OMIM:166600
HP:0004356	Abnormality of lysosomal metabolism	5660	PSAP	OMIM:610539
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	OMIM:252600
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	OMIM:252500
HP:0004356	Abnormality of lysosomal metabolism	427	ASAH1	OMIM:228000
HP:0004357	Abnormal circulating leucine concentration	56922	MCCC1	ORPHA:6
HP:0004357	Abnormal circulating leucine concentration	64087	MCCC2	ORPHA:6
HP:0004357	Abnormal circulating leucine concentration	152926	PPM1K	OMIM:615135
HP:0004357	Abnormal circulating leucine concentration	587	BCAT2	OMIM:618850
HP:0004357	Abnormal circulating leucine concentration	506	ATP5F1B	OMIM:620085
HP:0004358	Abnormality of superoxide metabolism	4688	NCF2	OMIM:233710
HP:0004358	Abnormality of superoxide metabolism	133686	NADK2	ORPHA:431361
HP:0004358	Abnormality of superoxide metabolism	1536	CYBB	OMIM:306400
HP:0004358	Abnormality of superoxide metabolism	653361	NCF1	OMIM:233700
HP:0004358	Abnormality of superoxide metabolism	1535	CYBA	OMIM:233690
HP:0004359	Abnormal circulating fatty-acid concentration	1497	CTNS	OMIM:219800
HP:0004359	Abnormal circulating fatty-acid concentration	1738	DLD	ORPHA:2394
HP:0004359	Abnormal circulating fatty-acid concentration	3155	HMGCL	OMIM:246450
HP:0004359	Abnormal circulating fatty-acid concentration	4556	MT-TE	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	55687	TRMU	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	37	ACADVL	OMIM:201475
HP:0004359	Abnormal circulating fatty-acid concentration	4695	NDUFA2	OMIM:618235
HP:0004359	Abnormal circulating fatty-acid concentration	34	ACADM	OMIM:201450
HP:0004359	Abnormal circulating fatty-acid concentration	1294	COL7A1	ORPHA:89842
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8	OMIM:611283
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8	ORPHA:79159
HP:0004359	Abnormal circulating fatty-acid concentration	3033	HADH	ORPHA:71212
HP:0004359	Abnormal circulating fatty-acid concentration	28976	ACAD9	ORPHA:99901
HP:0004359	Abnormal circulating fatty-acid concentration	64087	MCCC2	OMIM:210210
HP:0004359	Abnormal circulating fatty-acid concentration	788	SLC25A20	ORPHA:159
HP:0004359	Abnormal circulating fatty-acid concentration	1962	EHHADH	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	2628	GATM	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	6569	SLC34A1	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	6584	SLC22A5	OMIM:212140
HP:0004359	Abnormal circulating fatty-acid concentration	6557	SLC12A1	OMIM:601678
HP:0004359	Abnormal circulating fatty-acid concentration	3758	KCNJ1	OMIM:241200
HP:0004359	Abnormal circulating fatty-acid concentration	3172	HNF4A	ORPHA:263455
HP:0004359	Abnormal circulating fatty-acid concentration	215	ABCD1	ORPHA:139399
HP:0004359	Abnormal circulating fatty-acid concentration	215	ABCD1	ORPHA:139396
HP:0004359	Abnormal circulating fatty-acid concentration	6341	SCO1	OMIM:619048
HP:0004359	Abnormal circulating fatty-acid concentration	55670	PEX26	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5824	PEX19	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	8504	PEX3	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	9409	PEX16	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	9409	PEX16	OMIM:614877
HP:0004359	Abnormal circulating fatty-acid concentration	8799	PEX11B	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5189	PEX1	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5194	PEX13	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:614879
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:215100
HP:0004359	Abnormal circulating fatty-acid concentration	5264	PHYH	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	5192	PEX10	ORPHA:247815
HP:0004359	Abnormal circulating fatty-acid concentration	133686	NADK2	ORPHA:431361
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	OMIM:608836
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	ORPHA:228305
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	ORPHA:228308
HP:0004359	Abnormal circulating fatty-acid concentration	4312	MMP1	ORPHA:79408
HP:0004359	Abnormal circulating fatty-acid concentration	283209	PGM2L1	OMIM:620191
HP:0004359	Abnormal circulating fatty-acid concentration	4056	LTC4S	OMIM:614037
HP:0004359	Abnormal circulating fatty-acid concentration	208	AKT2	ORPHA:293964
HP:0004359	Abnormal circulating fatty-acid concentration	22845	DOLK	OMIM:610768
HP:0004359	Abnormal circulating fatty-acid concentration	132158	GLYCTK	ORPHA:941
HP:0004359	Abnormal circulating fatty-acid concentration	25974	MMACHC	ORPHA:79282
HP:0004359	Abnormal circulating fatty-acid concentration	84693	MCEE	OMIM:251120
HP:0004359	Abnormal circulating fatty-acid concentration	5321	PLA2G4A	OMIM:618372
HP:0004359	Abnormal circulating fatty-acid concentration	55788	LMBRD1	OMIM:277380
HP:0004359	Abnormal circulating fatty-acid concentration	5826	ABCD4	OMIM:614857
HP:0004359	Abnormal circulating fatty-acid concentration	51241	COX16	OMIM:619355
HP:0004359	Abnormal circulating fatty-acid concentration	23474	ETHE1	OMIM:602473
HP:0004359	Abnormal circulating fatty-acid concentration	5190	PEX6	OMIM:614862
HP:0004359	Abnormal circulating fatty-acid concentration	5828	PEX2	OMIM:614866
HP:0004359	Abnormal circulating fatty-acid concentration	5195	PEX14	OMIM:614887
HP:0004359	Abnormal circulating fatty-acid concentration	3295	HSD17B4	OMIM:261515
HP:0004359	Abnormal circulating fatty-acid concentration	5193	PEX12	OMIM:614859
HP:0004359	Abnormal circulating fatty-acid concentration	23600	AMACR	OMIM:614307
HP:0004359	Abnormal circulating fatty-acid concentration	85021	REPS1	OMIM:617916
HP:0004359	Abnormal circulating fatty-acid concentration	1174	AP1S1	OMIM:609313
HP:0004359	Abnormal circulating fatty-acid concentration	10059	DNM1L	OMIM:614388
HP:0004359	Abnormal circulating fatty-acid concentration	6342	SCP2	OMIM:613724
HP:0004359	Abnormal circulating fatty-acid concentration	7351	UCP2	ORPHA:276556
HP:0004359	Abnormal circulating fatty-acid concentration	6927	HNF1A	ORPHA:324575
HP:0004359	Abnormal circulating fatty-acid concentration	6833	ABCC8	ORPHA:276575
HP:0004359	Abnormal circulating fatty-acid concentration	3767	KCNJ11	ORPHA:79644
HP:0004359	Abnormal circulating fatty-acid concentration	35	ACADS	ORPHA:26792
HP:0004359	Abnormal circulating fatty-acid concentration	55065	SLC52A1	OMIM:615026
HP:0004359	Abnormal circulating fatty-acid concentration	128989	TANGO2	OMIM:616878
HP:0004359	Abnormal circulating fatty-acid concentration	128989	TANGO2	ORPHA:480864
HP:0004359	Abnormal circulating fatty-acid concentration	90624	LYRM7	OMIM:615838
HP:0004359	Abnormal circulating fatty-acid concentration	3030	HADHA	OMIM:609015
HP:0030205	Increased jitter at single fiber EMG	199857	ALG14	OMIM:616227
HP:0030205	Increased jitter at single fiber EMG	199857	ALG14	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	1305	COL13A1	OMIM:616720
HP:0030205	Increased jitter at single fiber EMG	1798	DPAGT1	OMIM:614750
HP:0030205	Increased jitter at single fiber EMG	1798	DPAGT1	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	6576	SLC25A1	OMIM:618197
HP:0030205	Increased jitter at single fiber EMG	29925	GMPPB	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	2673	GFPT1	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	85365	ALG2	ORPHA:353327
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	8292	COLQ	ORPHA:98915
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	3913	LAMB2	ORPHA:98915
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	29925	GMPPB	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	2673	GFPT1	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1798	DPAGT1	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	85365	ALG2	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	199857	ALG14	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	29925	GMPPB	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	2673	GFPT1	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	1798	DPAGT1	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	85365	ALG2	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	199857	ALG14	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	8292	COLQ	ORPHA:98915
HP:0030201	Response to drugs acting on neuromuscular transmission	3913	LAMB2	ORPHA:98915
HP:0030208	Anti-acetylcholine receptor antibody positivity	5339	PLEC	ORPHA:254361
HP:0030208	Anti-acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:601462
HP:0030208	Anti-acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:608930
HP:0030208	Anti-acetylcholine receptor antibody positivity	6329	SCN4A	OMIM:614198
HP:0030208	Anti-acetylcholine receptor antibody positivity	5913	RAPSN	OMIM:616326
HP:0030208	Anti-acetylcholine receptor antibody positivity	199857	ALG14	OMIM:616227
HP:0030208	Anti-acetylcholine receptor antibody positivity	1103	CHAT	OMIM:254210
HP:0030208	Anti-acetylcholine receptor antibody positivity	1103	CHAT	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616314
HP:0030208	Anti-acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616313
HP:0030208	Anti-acetylcholine receptor antibody positivity	1145	CHRNE	OMIM:616324
HP:0030208	Anti-acetylcholine receptor antibody positivity	1144	CHRND	OMIM:616323
HP:0030208	Anti-acetylcholine receptor antibody positivity	9581	PREPL	OMIM:616224
HP:0030208	Anti-acetylcholine receptor antibody positivity	60482	SLC5A7	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	4649	MYO9A	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	1305	COL13A1	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	6576	SLC25A1	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	6843	VAMP1	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	375790	AGRN	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	127833	SYT2	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	6572	SLC18A3	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	6616	SNAP25	ORPHA:98914
HP:0030208	Anti-acetylcholine receptor antibody positivity	8292	COLQ	OMIM:603034
HP:0030208	Anti-acetylcholine receptor antibody positivity	285489	DOK7	OMIM:254300
HP:0030207	Paradoxical respiration	1410	CRYAB	OMIM:608810
HP:0030207	Paradoxical respiration	65055	REEP1	OMIM:620011
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1	ORPHA:289548
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1	ORPHA:168558
HP:0004360	Abnormality of acid-base homeostasis	29960	MRM2	OMIM:618567
HP:0004360	Abnormality of acid-base homeostasis	3773	KCNJ16	OMIM:619406
HP:0004360	Abnormality of acid-base homeostasis	83483	PLVAP	OMIM:618183
HP:0004360	Abnormality of acid-base homeostasis	5076	PAX2	ORPHA:97362
HP:0004360	Abnormality of acid-base homeostasis	5087	PBX1	ORPHA:97362
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB	OMIM:229600
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB	ORPHA:469
HP:0004360	Abnormality of acid-base homeostasis	57128	LYRM4	OMIM:615595
HP:0004360	Abnormality of acid-base homeostasis	6809	STX3	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	6809	STX3	OMIM:619445
HP:0004360	Abnormality of acid-base homeostasis	4645	MYO5B	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	79827	CLMP	OMIM:615237
HP:0004360	Abnormality of acid-base homeostasis	23417	MLYCD	OMIM:248360
HP:0004360	Abnormality of acid-base homeostasis	132158	GLYCTK	ORPHA:941
HP:0004360	Abnormality of acid-base homeostasis	132158	GLYCTK	OMIM:220120
HP:0004360	Abnormality of acid-base homeostasis	779	CACNA1S	ORPHA:423
HP:0004360	Abnormality of acid-base homeostasis	3141	HLCS	OMIM:253270
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD	OMIM:140350
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD	ORPHA:2118
HP:0004360	Abnormality of acid-base homeostasis	58528	RRAGD	OMIM:620152
HP:0004360	Abnormality of acid-base homeostasis	54539	NDUFB11	OMIM:301021
HP:0004360	Abnormality of acid-base homeostasis	3938	LCT	OMIM:223000
HP:0004360	Abnormality of acid-base homeostasis	2937	GSS	OMIM:231900
HP:0004360	Abnormality of acid-base homeostasis	34	ACADM	OMIM:201450
HP:0004360	Abnormality of acid-base homeostasis	50619	DEF6	OMIM:619573
HP:0004360	Abnormality of acid-base homeostasis	388753	COA6	OMIM:616501
HP:0004360	Abnormality of acid-base homeostasis	4358	MPV17	OMIM:256810
HP:0004360	Abnormality of acid-base homeostasis	10616	RBCK1	OMIM:615895
HP:0004360	Abnormality of acid-base homeostasis	353	APRT	OMIM:614723
HP:0004360	Abnormality of acid-base homeostasis	549	AUH	OMIM:250950
HP:0004360	Abnormality of acid-base homeostasis	84693	MCEE	OMIM:251120
HP:0004360	Abnormality of acid-base homeostasis	6821	SUOX	OMIM:272300
HP:0004360	Abnormality of acid-base homeostasis	5095	PCCA	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	5096	PCCB	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	55065	SLC52A1	OMIM:615026
HP:0004360	Abnormality of acid-base homeostasis	284184	NDUFAF8	OMIM:618776
HP:0004360	Abnormality of acid-base homeostasis	60386	SLC25A19	ORPHA:99742
HP:0004360	Abnormality of acid-base homeostasis	2074	ERCC6	OMIM:214150
HP:0004360	Abnormality of acid-base homeostasis	54914	FOCAD	OMIM:619991
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT	OMIM:259900
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT	ORPHA:93598
HP:0004360	Abnormality of acid-base homeostasis	6523	SLC5A1	OMIM:606824
HP:0004360	Abnormality of acid-base homeostasis	27068	PPA2	OMIM:617222
HP:0004360	Abnormality of acid-base homeostasis	4306	NR3C2	OMIM:177735
HP:0004360	Abnormality of acid-base homeostasis	2271	FH	OMIM:606812
HP:0004360	Abnormality of acid-base homeostasis	2184	FAH	OMIM:276700
HP:0004360	Abnormality of acid-base homeostasis	1807	DPYS	OMIM:222748
HP:0004360	Abnormality of acid-base homeostasis	2542	SLC37A4	OMIM:232240
HP:0004360	Abnormality of acid-base homeostasis	37	ACADVL	ORPHA:26793
HP:0004360	Abnormality of acid-base homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A	ORPHA:156
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A	OMIM:255120
HP:0004360	Abnormality of acid-base homeostasis	525	ATP6V1B1	OMIM:267300
HP:0004360	Abnormality of acid-base homeostasis	57551	TAOK1	OMIM:619575
HP:0004360	Abnormality of acid-base homeostasis	5257	PHKB	ORPHA:79240
HP:0004360	Abnormality of acid-base homeostasis	4853	NOTCH2	OMIM:610205
HP:0004360	Abnormality of acid-base homeostasis	26276	VPS33B	OMIM:208085
HP:0004360	Abnormality of acid-base homeostasis	5256	PHKA2	ORPHA:264580
HP:0004360	Abnormality of acid-base homeostasis	790	CAD	OMIM:616457
HP:0004360	Abnormality of acid-base homeostasis	182	JAG1	OMIM:118450
HP:0004360	Abnormality of acid-base homeostasis	63894	VIPAS39	OMIM:613404
HP:0004360	Abnormality of acid-base homeostasis	57724	EPG5	ORPHA:1493
HP:0004360	Abnormality of acid-base homeostasis	8942	KYNU	ORPHA:79155
HP:0004360	Abnormality of acid-base homeostasis	760	CA2	ORPHA:2785
HP:0004360	Abnormality of acid-base homeostasis	9049	AIP	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	9101	USP8	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	6338	SCNN1B	OMIM:177200
HP:0004360	Abnormality of acid-base homeostasis	1586	CYP17A1	OMIM:202110
HP:0004360	Abnormality of acid-base homeostasis	5009	OTC	OMIM:311250
HP:0004360	Abnormality of acid-base homeostasis	435	ASL	OMIM:207900
HP:0004360	Abnormality of acid-base homeostasis	445	ASS1	OMIM:215700
HP:0004360	Abnormality of acid-base homeostasis	1373	CPS1	OMIM:237300
HP:0004360	Abnormality of acid-base homeostasis	10166	SLC25A15	ORPHA:415
HP:0004360	Abnormality of acid-base homeostasis	8462	KLF11	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	2645	GCK	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	26060	APPL1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	640	BLK	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	1056	CEL	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	4760	NEUROD1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	3651	PDX1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	6833	ABCC8	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	6833	ABCC8	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	OMIM:618858
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	OMIM:613370
HP:0004360	Abnormality of acid-base homeostasis	3643	INSR	OMIM:262190
HP:0004360	Abnormality of acid-base homeostasis	3643	INSR	ORPHA:769
HP:0004360	Abnormality of acid-base homeostasis	63924	CIDEC	OMIM:615238
HP:0004360	Abnormality of acid-base homeostasis	346171	ZFP57	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	57061	HYMAI	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	5325	PLAGL1	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	6557	SLC12A1	OMIM:601678
HP:0004360	Abnormality of acid-base homeostasis	7809	BSND	ORPHA:89938
HP:0004360	Abnormality of acid-base homeostasis	1187	CLCNKA	ORPHA:89938
HP:0004360	Abnormality of acid-base homeostasis	3106	HLA-B	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	10320	IKZF1	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	3758	KCNJ1	OMIM:241200
HP:0004360	Abnormality of acid-base homeostasis	79783	SUGCT	ORPHA:35706
HP:0004360	Abnormality of acid-base homeostasis	3712	IVD	OMIM:243500
HP:0004360	Abnormality of acid-base homeostasis	26191	PTPN22	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	3710	ITPR3	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	3569	IL6	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	6927	HNF1A	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	6566	SLC16A1	OMIM:616095
HP:0004360	Abnormality of acid-base homeostasis	513	ATP5F1D	OMIM:618120
HP:0004360	Abnormality of acid-base homeostasis	5078	PAX4	OMIM:612227
HP:0004360	Abnormality of acid-base homeostasis	3767	KCNJ11	OMIM:618856
HP:0004360	Abnormality of acid-base homeostasis	64087	MCCC2	OMIM:210210
HP:0004360	Abnormality of acid-base homeostasis	2710	GK	OMIM:307030
HP:0004360	Abnormality of acid-base homeostasis	9451	EIF2AK3	ORPHA:1667
HP:0004360	Abnormality of acid-base homeostasis	5277	PIGA	ORPHA:447
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1	ORPHA:238329
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1	OMIM:300816
HP:0004360	Abnormality of acid-base homeostasis	4702	NDUFA8	OMIM:619272
HP:0004360	Abnormality of acid-base homeostasis	10128	LRPPRC	OMIM:220111
HP:0004360	Abnormality of acid-base homeostasis	10128	LRPPRC	ORPHA:70472
HP:0004360	Abnormality of acid-base homeostasis	79717	PPCS	OMIM:618189
HP:0004360	Abnormality of acid-base homeostasis	26235	FBXL4	OMIM:615471
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	4570	MT-TN	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4570	MT-TN	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	OMIM:616684
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	10059	DNM1L	OMIM:614388
HP:0004360	Abnormality of acid-base homeostasis	10059	DNM1L	ORPHA:330050
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10	OMIM:616209
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10	ORPHA:457050
HP:0004360	Abnormality of acid-base homeostasis	25821	MTO1	OMIM:614702
HP:0004360	Abnormality of acid-base homeostasis	123263	MTFMT	OMIM:614947
HP:0004360	Abnormality of acid-base homeostasis	123263	MTFMT	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	10667	FARS2	OMIM:614946
HP:0004360	Abnormality of acid-base homeostasis	80222	TARS2	OMIM:615918
HP:0004360	Abnormality of acid-base homeostasis	4535	MT-ND1	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4535	MT-ND1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4536	MT-ND2	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4537	MT-ND3	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4538	MT-ND4	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4538	MT-ND4	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	4578	MT-TW	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4578	MT-TW	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4577	MT-TV	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4508	MT-ATP6	ORPHA:320360
HP:0004360	Abnormality of acid-base homeostasis	4540	MT-ND5	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4540	MT-ND5	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4541	MT-ND6	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4541	MT-ND6	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	ORPHA:1349
HP:0004360	Abnormality of acid-base homeostasis	51218	GLRX5	ORPHA:401866
HP:0004360	Abnormality of acid-base homeostasis	51218	GLRX5	OMIM:616859
HP:0004360	Abnormality of acid-base homeostasis	6341	SCO1	OMIM:619048
HP:0004360	Abnormality of acid-base homeostasis	65993	MRPS34	OMIM:617664
HP:0004360	Abnormality of acid-base homeostasis	5917	RARS1	ORPHA:438114
HP:0004360	Abnormality of acid-base homeostasis	56997	COQ8A	ORPHA:139485
HP:0004360	Abnormality of acid-base homeostasis	56997	COQ8A	OMIM:612016
HP:0004360	Abnormality of acid-base homeostasis	1352	COX10	OMIM:619046
HP:0004360	Abnormality of acid-base homeostasis	387787	LIPT2	OMIM:617668
HP:0004360	Abnormality of acid-base homeostasis	1841	DTYMK	OMIM:619847
HP:0004360	Abnormality of acid-base homeostasis	10730	YME1L1	OMIM:617302
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO	ORPHA:79096
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO	OMIM:610090
HP:0004360	Abnormality of acid-base homeostasis	271	AMPD2	OMIM:615809
HP:0004360	Abnormality of acid-base homeostasis	87178	PNPT1	ORPHA:319514
HP:0004360	Abnormality of acid-base homeostasis	87178	PNPT1	OMIM:614932
HP:0004360	Abnormality of acid-base homeostasis	1340	COX6B1	OMIM:619051
HP:0004360	Abnormality of acid-base homeostasis	84987	COX14	OMIM:619053
HP:0004360	Abnormality of acid-base homeostasis	4718	NDUFC2	OMIM:619170
HP:0004360	Abnormality of acid-base homeostasis	1738	DLD	ORPHA:2394
HP:0004360	Abnormality of acid-base homeostasis	55687	TRMU	OMIM:613070
HP:0004360	Abnormality of acid-base homeostasis	1351	COX8A	OMIM:619059
HP:0004360	Abnormality of acid-base homeostasis	116228	COX20	OMIM:619054
HP:0004360	Abnormality of acid-base homeostasis	100131801	PET100	OMIM:619055
HP:0004360	Abnormality of acid-base homeostasis	100131801	PET100	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	1020	CDK5	OMIM:616342
HP:0004360	Abnormality of acid-base homeostasis	9692	PRORP	OMIM:619737
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	OMIM:618528
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	OMIM:610131
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	55157	DARS2	ORPHA:137898
HP:0004360	Abnormality of acid-base homeostasis	1339	COX6A2	OMIM:619062
HP:0004360	Abnormality of acid-base homeostasis	100303755	PET117	OMIM:619063
HP:0004360	Abnormality of acid-base homeostasis	9377	COX5A	OMIM:619064
HP:0004360	Abnormality of acid-base homeostasis	1327	COX4I1	OMIM:619060
HP:0004360	Abnormality of acid-base homeostasis	54968	TMEM70	OMIM:614052
HP:0004360	Abnormality of acid-base homeostasis	4558	MT-TF	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4558	MT-TF	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4571	MT-TP	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4565	MT-TI	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	5442	POLRMT	OMIM:619743
HP:0004360	Abnormality of acid-base homeostasis	39	ACAT2	OMIM:614055
HP:0004360	Abnormality of acid-base homeostasis	790955	UQCC3	OMIM:616111
HP:0004360	Abnormality of acid-base homeostasis	246243	RNASEH1	OMIM:616479
HP:0004360	Abnormality of acid-base homeostasis	10352	WARS2	ORPHA:572798
HP:0004360	Abnormality of acid-base homeostasis	10352	WARS2	OMIM:617710
HP:0004360	Abnormality of acid-base homeostasis	84300	UQCC2	OMIM:615824
HP:0004360	Abnormality of acid-base homeostasis	51021	MRPS16	OMIM:610498
HP:0004360	Abnormality of acid-base homeostasis	79731	NARS2	OMIM:616239
HP:0004360	Abnormality of acid-base homeostasis	284439	SLC25A42	OMIM:618416
HP:0004360	Abnormality of acid-base homeostasis	84947	SERAC1	OMIM:614739
HP:0004360	Abnormality of acid-base homeostasis	28976	ACAD9	ORPHA:99901
HP:0004360	Abnormality of acid-base homeostasis	3735	KARS1	OMIM:619196
HP:0004360	Abnormality of acid-base homeostasis	3735	KARS1	OMIM:619147
HP:0004360	Abnormality of acid-base homeostasis	5091	PC	OMIM:266150
HP:0004360	Abnormality of acid-base homeostasis	55768	NGLY1	OMIM:615273
HP:0004360	Abnormality of acid-base homeostasis	65080	MRPL44	OMIM:615395
HP:0004360	Abnormality of acid-base homeostasis	27089	UQCRQ	OMIM:615159
HP:0004360	Abnormality of acid-base homeostasis	51660	MPC1	OMIM:614741
HP:0004360	Abnormality of acid-base homeostasis	1593	CYP27A1	ORPHA:909
HP:0004360	Abnormality of acid-base homeostasis	7381	UQCRB	OMIM:615158
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50	OMIM:617698
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50	ORPHA:505216
HP:0004360	Abnormality of acid-base homeostasis	4191	MDH2	OMIM:617339
HP:0004360	Abnormality of acid-base homeostasis	90624	LYRM7	OMIM:615838
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:203700
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:157640
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	ORPHA:496790
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	OMIM:618810
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	OMIM:617183
HP:0004360	Abnormality of acid-base homeostasis	7385	UQCRC2	OMIM:615160
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2	ORPHA:478029
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2	OMIM:616811
HP:0004360	Abnormality of acid-base homeostasis	4285	MIPEP	OMIM:617228
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:616138
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:609286
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	10531	PITRM1	OMIM:619405
HP:0004360	Abnormality of acid-base homeostasis	270	AMPD1	ORPHA:45
HP:0004360	Abnormality of acid-base homeostasis	272	AMPD3	ORPHA:45
HP:0004360	Abnormality of acid-base homeostasis	55739	NAXD	OMIM:618321
HP:0004360	Abnormality of acid-base homeostasis	79989	IFT56	OMIM:619534
HP:0004360	Abnormality of acid-base homeostasis	125988	MICOS13	OMIM:618329
HP:0004360	Abnormality of acid-base homeostasis	8565	YARS1	OMIM:619418
HP:0004360	Abnormality of acid-base homeostasis	1384	CRAT	OMIM:617917
HP:0004360	Abnormality of acid-base homeostasis	91574	MTRFR	OMIM:613559
HP:0004360	Abnormality of acid-base homeostasis	3954	LETM1	OMIM:620089
HP:0004360	Abnormality of acid-base homeostasis	23479	ISCU	OMIM:255125
HP:0004360	Abnormality of acid-base homeostasis	57505	AARS2	OMIM:614096
HP:0004360	Abnormality of acid-base homeostasis	81570	CLPB	OMIM:616271
HP:0004360	Abnormality of acid-base homeostasis	81570	CLPB	ORPHA:445038
HP:0004360	Abnormality of acid-base homeostasis	1892	ECHS1	OMIM:616277
HP:0004360	Abnormality of acid-base homeostasis	1892	ECHS1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	51117	COQ4	OMIM:616276
HP:0004360	Abnormality of acid-base homeostasis	51067	YARS2	OMIM:613561
HP:0004360	Abnormality of acid-base homeostasis	57017	COQ9	OMIM:614654
HP:0004360	Abnormality of acid-base homeostasis	23590	PDSS1	OMIM:614651
HP:0004360	Abnormality of acid-base homeostasis	27429	HTRA2	OMIM:617248
HP:0004360	Abnormality of acid-base homeostasis	57107	PDSS2	OMIM:614652
HP:0004360	Abnormality of acid-base homeostasis	57107	PDSS2	ORPHA:255249
HP:0004360	Abnormality of acid-base homeostasis	3329	HSPD1	OMIM:612233
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	OMIM:609283
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	OMIM:615418
HP:0004360	Abnormality of acid-base homeostasis	50484	RRM2B	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	3155	HMGCL	ORPHA:20
HP:0004360	Abnormality of acid-base homeostasis	4572	MT-TQ	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4512	MT-CO1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4513	MT-CO2	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4514	MT-CO3	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4575	MT-TS2	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4564	MT-TH	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4728	NDUFS8	OMIM:618222
HP:0004360	Abnormality of acid-base homeostasis	4728	NDUFS8	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1	OMIM:618225
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	763	CA5A	OMIM:615751
HP:0004360	Abnormality of acid-base homeostasis	85476	GFM1	OMIM:609060
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1	OMIM:618226
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4967	OGDH	OMIM:203740
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2	OMIM:618228
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	5250	SLC25A3	ORPHA:91130
HP:0004360	Abnormality of acid-base homeostasis	10102	TSFM	OMIM:610505
HP:0004360	Abnormality of acid-base homeostasis	8050	PDHX	ORPHA:255182
HP:0004360	Abnormality of acid-base homeostasis	56945	MRPS22	OMIM:611719
HP:0004360	Abnormality of acid-base homeostasis	4568	MT-TL2	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	26275	HIBCH	ORPHA:88639
HP:0004360	Abnormality of acid-base homeostasis	23395	LARS2	OMIM:617021
HP:0004360	Abnormality of acid-base homeostasis	51103	NDUFAF1	OMIM:618234
HP:0004360	Abnormality of acid-base homeostasis	6647	SOD1	OMIM:618598
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2	ORPHA:477774
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2	OMIM:616672
HP:0004360	Abnormality of acid-base homeostasis	126328	NDUFA11	OMIM:618236
HP:0004360	Abnormality of acid-base homeostasis	8867	SYNJ1	OMIM:617389
HP:0004360	Abnormality of acid-base homeostasis	51601	LIPT1	OMIM:616299
HP:0004360	Abnormality of acid-base homeostasis	51601	LIPT1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3	OMIM:618230
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	8492	PRSS12	OMIM:249500
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1	OMIM:312170
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1	ORPHA:79243
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	54931	TRMT10C	OMIM:616974
HP:0004360	Abnormality of acid-base homeostasis	29078	NDUFAF4	OMIM:618237
HP:0004360	Abnormality of acid-base homeostasis	11093	ADAMTS13	OMIM:274150
HP:0004360	Abnormality of acid-base homeostasis	3939	LDHA	OMIM:612933
HP:0004360	Abnormality of acid-base homeostasis	4952	OCRL	ORPHA:534
HP:0004360	Abnormality of acid-base homeostasis	4204	MECP2	ORPHA:778
HP:0004360	Abnormality of acid-base homeostasis	90161	HS6ST2	OMIM:301025
HP:0004360	Abnormality of acid-base homeostasis	4694	NDUFA1	OMIM:301020
HP:0004360	Abnormality of acid-base homeostasis	55967	NDUFA12	OMIM:618244
HP:0004360	Abnormality of acid-base homeostasis	55967	NDUFA12	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	84340	GFM2	ORPHA:565624
HP:0004360	Abnormality of acid-base homeostasis	84340	GFM2	OMIM:618397
HP:0004360	Abnormality of acid-base homeostasis	4715	NDUFB9	OMIM:618245
HP:0004360	Abnormality of acid-base homeostasis	4704	NDUFA9	OMIM:618247
HP:0004360	Abnormality of acid-base homeostasis	4704	NDUFA9	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	51116	MRPS2	OMIM:617950
HP:0004360	Abnormality of acid-base homeostasis	9512	PMPCB	OMIM:617954
HP:0004360	Abnormality of acid-base homeostasis	51079	NDUFA13	OMIM:618249
HP:0004360	Abnormality of acid-base homeostasis	51079	NDUFA13	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	708	C1QBP	OMIM:617713
HP:0004360	Abnormality of acid-base homeostasis	9361	LONP1	ORPHA:79243
HP:0004360	Abnormality of acid-base homeostasis	55750	AGK	OMIM:212350
HP:0004360	Abnormality of acid-base homeostasis	54704	PDP1	ORPHA:79246
HP:0004360	Abnormality of acid-base homeostasis	128989	TANGO2	ORPHA:480864
HP:0004360	Abnormality of acid-base homeostasis	128989	TANGO2	OMIM:616878
HP:0004360	Abnormality of acid-base homeostasis	91647	ATPAF2	OMIM:604273
HP:0004360	Abnormality of acid-base homeostasis	8604	SLC25A12	OMIM:612949
HP:0004360	Abnormality of acid-base homeostasis	9056	SLC7A7	OMIM:222700
HP:0004360	Abnormality of acid-base homeostasis	80324	PUS1	OMIM:600462
HP:0004360	Abnormality of acid-base homeostasis	55863	TMEM126B	OMIM:618250
HP:0004360	Abnormality of acid-base homeostasis	112812	FDX2	OMIM:251900
HP:0004360	Abnormality of acid-base homeostasis	6390	SDHB	OMIM:619224
HP:0004360	Abnormality of acid-base homeostasis	63931	MRPS14	OMIM:618378
HP:0004360	Abnormality of acid-base homeostasis	8802	SUCLG1	ORPHA:17
HP:0004360	Abnormality of acid-base homeostasis	4714	NDUFB8	OMIM:618252
HP:0004360	Abnormality of acid-base homeostasis	4714	NDUFB8	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	4700	NDUFA6	OMIM:618253
HP:0004360	Abnormality of acid-base homeostasis	84705	GTPBP3	OMIM:616198
HP:0004360	Abnormality of acid-base homeostasis	6773	STAT2	OMIM:616636
HP:0004360	Abnormality of acid-base homeostasis	27010	TPK1	OMIM:614458
HP:0004360	Abnormality of acid-base homeostasis	3028	HSD17B10	ORPHA:391428
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2	OMIM:604377
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2	ORPHA:521411
HP:0004360	Abnormality of acid-base homeostasis	11212	PLPBP	OMIM:617290
HP:0004360	Abnormality of acid-base homeostasis	2998	GYS2	OMIM:240600
HP:0004360	Abnormality of acid-base homeostasis	11019	LIAS	OMIM:614462
HP:0004360	Abnormality of acid-base homeostasis	11222	MRPL3	OMIM:614582
HP:0004360	Abnormality of acid-base homeostasis	81689	ISCA1	OMIM:617613
HP:0004360	Abnormality of acid-base homeostasis	4329	ALDH6A1	OMIM:614105
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	128240	NAXE	OMIM:617186
HP:0004360	Abnormality of acid-base homeostasis	6182	MRPL12	OMIM:618951
HP:0004360	Abnormality of acid-base homeostasis	7084	TK2	OMIM:617069
HP:0004360	Abnormality of acid-base homeostasis	28957	MRPS28	OMIM:618958
HP:0004360	Abnormality of acid-base homeostasis	57570	TRMT5	OMIM:616539
HP:0004360	Abnormality of acid-base homeostasis	5261	PHKG2	OMIM:613027
HP:0004360	Abnormality of acid-base homeostasis	57038	RARS2	OMIM:611523
HP:0004360	Abnormality of acid-base homeostasis	498	ATP5F1A	OMIM:620358
HP:0004360	Abnormality of acid-base homeostasis	7284	TUFM	OMIM:610678
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L	OMIM:124000
HP:0004360	Abnormality of acid-base homeostasis	80704	SLC19A3	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	91942	NDUFAF2	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	51204	TACO1	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4724	NDUFS4	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	1355	COX15	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	374291	NDUFS7	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4705	NDUFA10	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4695	NDUFA2	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4697	NDUFA4	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	1716	DGUOK	OMIM:617070
HP:0004360	Abnormality of acid-base homeostasis	27235	COQ2	ORPHA:255249
HP:0004360	Abnormality of acid-base homeostasis	51081	MRPS7	OMIM:617872
HP:0004360	Abnormality of acid-base homeostasis	63899	NSUN3	OMIM:619012
HP:0004360	Abnormality of acid-base homeostasis	119559	SFXN4	OMIM:615578
HP:0004360	Abnormality of acid-base homeostasis	131118	DNAJC19	ORPHA:66634
HP:0004360	Abnormality of acid-base homeostasis	2806	GOT2	OMIM:618721
HP:0004360	Abnormality of acid-base homeostasis	55005	RMND1	OMIM:614922
HP:0004360	Abnormality of acid-base homeostasis	124454	EARS2	OMIM:614924
HP:0004360	Abnormality of acid-base homeostasis	84842	HPDL	OMIM:619026
HP:0004360	Abnormality of acid-base homeostasis	1468	SLC25A10	OMIM:618972
HP:0004360	Abnormality of acid-base homeostasis	29928	TIMM22	OMIM:618851
HP:0004360	Abnormality of acid-base homeostasis	51733	UPB1	OMIM:613161
HP:0004360	Abnormality of acid-base homeostasis	115286	SLC25A26	OMIM:616794
HP:0004360	Abnormality of acid-base homeostasis	8803	SUCLA2	OMIM:612073
HP:0004360	Abnormality of acid-base homeostasis	9054	NFS1	OMIM:619386
HP:0004360	Abnormality of acid-base homeostasis	22868	FASTKD2	OMIM:618855
HP:0004360	Abnormality of acid-base homeostasis	7388	UQCRH	OMIM:620137
HP:0004360	Abnormality of acid-base homeostasis	54938	SARS2	OMIM:613845
HP:0004360	Abnormality of acid-base homeostasis	50640	PNPLA8	OMIM:251950
HP:0004360	Abnormality of acid-base homeostasis	4552	MTRR	OMIM:236270
HP:0004360	Abnormality of acid-base homeostasis	55788	LMBRD1	OMIM:277380
HP:0004360	Abnormality of acid-base homeostasis	25974	MMACHC	ORPHA:79282
HP:0004360	Abnormality of acid-base homeostasis	25974	MMACHC	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	3054	HCFC1	OMIM:309541
HP:0004360	Abnormality of acid-base homeostasis	51293	CD320	OMIM:613646
HP:0004360	Abnormality of acid-base homeostasis	5826	ABCD4	OMIM:614857
HP:0004360	Abnormality of acid-base homeostasis	4548	MTR	OMIM:250940
HP:0004360	Abnormality of acid-base homeostasis	27249	MMADHC	OMIM:277410
HP:0004360	Abnormality of acid-base homeostasis	326625	MMAB	OMIM:251110
HP:0004360	Abnormality of acid-base homeostasis	5052	PRDX1	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6	OMIM:618232
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3	OMIM:618246
HP:0004360	Abnormality of acid-base homeostasis	80224	NUBPL	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	84334	COA8	ORPHA:436271
HP:0004360	Abnormality of acid-base homeostasis	57176	VARS2	OMIM:615917
HP:0004360	Abnormality of acid-base homeostasis	4141	MARS1	OMIM:615486
HP:0004360	Abnormality of acid-base homeostasis	6392	SDHD	OMIM:619167
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1	ORPHA:51188
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1	OMIM:602473
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP	OMIM:603041
HP:0004360	Abnormality of acid-base homeostasis	3980	LIG3	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	4519	MT-CYB	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4519	MT-CYB	ORPHA:137675
HP:0004360	Abnormality of acid-base homeostasis	4511	MT-TC	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	5105	PCK1	OMIM:261680
HP:0004360	Abnormality of acid-base homeostasis	2538	G6PC1	OMIM:232200
HP:0004360	Abnormality of acid-base homeostasis	501	ALDH7A1	ORPHA:3006
HP:0004360	Abnormality of acid-base homeostasis	23203	PMPCA	ORPHA:1170
HP:0004360	Abnormality of acid-base homeostasis	514	ATP5F1E	OMIM:614053
HP:0004360	Abnormality of acid-base homeostasis	388962	BOLA3	OMIM:614299
HP:0004360	Abnormality of acid-base homeostasis	1629	DBT	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	593	BCKDHA	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	594	BCKDHB	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	4576	MT-TT	OMIM:551000
HP:0004360	Abnormality of acid-base homeostasis	1737	DLAT	OMIM:245348
HP:0004360	Abnormality of acid-base homeostasis	10165	SLC25A13	ORPHA:247598
HP:0004360	Abnormality of acid-base homeostasis	2671	GFER	ORPHA:330054
HP:0004360	Abnormality of acid-base homeostasis	26007	TKFC	ORPHA:1369
HP:0004360	Abnormality of acid-base homeostasis	26007	TKFC	OMIM:618805
HP:0004360	Abnormality of acid-base homeostasis	11274	USP18	OMIM:617397
HP:0004360	Abnormality of acid-base homeostasis	58472	SQOR	OMIM:619221
HP:0004360	Abnormality of acid-base homeostasis	51095	TRNT1	OMIM:616084
HP:0004360	Abnormality of acid-base homeostasis	51520	LARS1	OMIM:615438
HP:0004360	Abnormality of acid-base homeostasis	5162	PDHB	ORPHA:255138
HP:0004360	Abnormality of acid-base homeostasis	5162	PDHB	OMIM:614111
HP:0004360	Abnormality of acid-base homeostasis	60528	ELAC2	OMIM:615440
HP:0004360	Abnormality of acid-base homeostasis	55278	QRSL1	OMIM:618835
HP:0004360	Abnormality of acid-base homeostasis	5188	GATB	OMIM:618838
HP:0004360	Abnormality of acid-base homeostasis	3033	HADH	ORPHA:71212
HP:0004360	Abnormality of acid-base homeostasis	3030	HADHA	OMIM:609015
HP:0004360	Abnormality of acid-base homeostasis	283459	GATC	OMIM:618839
HP:0004360	Abnormality of acid-base homeostasis	5495	PPM1B	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	6519	SLC3A1	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	9581	PREPL	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	79823	CAMKMT	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	4713	NDUFB7	OMIM:620135
HP:0004360	Abnormality of acid-base homeostasis	2108	ETFA	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	2109	ETFB	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	2110	ETFDH	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	2639	GCDH	OMIM:231670
HP:0004360	Abnormality of acid-base homeostasis	133686	NADK2	ORPHA:431361
HP:0004360	Abnormality of acid-base homeostasis	7386	UQCRFS1	OMIM:618775
HP:0004360	Abnormality of acid-base homeostasis	6389	SDHA	OMIM:252011
HP:0004360	Abnormality of acid-base homeostasis	51241	COX16	OMIM:619355
HP:0004360	Abnormality of acid-base homeostasis	4556	MT-TE	ORPHA:254864
HP:0004360	Abnormality of acid-base homeostasis	8671	SLC4A4	OMIM:604278
HP:0004360	Abnormality of acid-base homeostasis	56922	MCCC1	OMIM:210200
HP:0004360	Abnormality of acid-base homeostasis	27247	NFU1	OMIM:605711
HP:0004360	Abnormality of acid-base homeostasis	4594	MMUT	OMIM:251000
HP:0004360	Abnormality of acid-base homeostasis	35	ACADS	OMIM:201470
HP:0004360	Abnormality of acid-base homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0004360	Abnormality of acid-base homeostasis	5836	PYGL	ORPHA:369
HP:0004360	Abnormality of acid-base homeostasis	2203	FBP1	ORPHA:348
HP:0004360	Abnormality of acid-base homeostasis	65266	WNK4	OMIM:614491
HP:0004360	Abnormality of acid-base homeostasis	65125	WNK1	OMIM:614492
HP:0004360	Abnormality of acid-base homeostasis	26249	KLHL3	OMIM:614495
HP:0004360	Abnormality of acid-base homeostasis	6521	SLC4A1	OMIM:611590
HP:0004360	Abnormality of acid-base homeostasis	8452	CUL3	OMIM:614496
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3	OMIM:610370
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3	ORPHA:83620
HP:0004360	Abnormality of acid-base homeostasis	137682	NDUFAF6	OMIM:618913
HP:0004360	Abnormality of acid-base homeostasis	137682	NDUFAF6	ORPHA:3337
HP:0004360	Abnormality of acid-base homeostasis	2592	GALT	OMIM:230400
HP:0004360	Abnormality of acid-base homeostasis	1497	CTNS	ORPHA:411629
HP:0004360	Abnormality of acid-base homeostasis	1962	EHHADH	ORPHA:3337
HP:0004360	Abnormality of acid-base homeostasis	2628	GATM	ORPHA:3337
HP:0004360	Abnormality of acid-base homeostasis	6569	SLC34A1	ORPHA:3337
HP:0004360	Abnormality of acid-base homeostasis	5053	PAH	OMIM:261600
HP:0004360	Abnormality of acid-base homeostasis	6261	RYR1	OMIM:145600
HP:0004360	Abnormality of acid-base homeostasis	3675	ITGA3	OMIM:614748
HP:0004360	Abnormality of acid-base homeostasis	38	ACAT1	OMIM:203750
HP:0004360	Abnormality of acid-base homeostasis	5019	OXCT1	OMIM:245050
HP:0004360	Abnormality of acid-base homeostasis	1537	CYC1	OMIM:615453
HP:0004360	Abnormality of acid-base homeostasis	6473	SHOX	ORPHA:314795
HP:0004360	Abnormality of acid-base homeostasis	27130	INVS	OMIM:602088
HP:0004360	Abnormality of acid-base homeostasis	686	BTD	OMIM:253260
HP:0004360	Abnormality of acid-base homeostasis	686	BTD	ORPHA:79241
HP:0004360	Abnormality of acid-base homeostasis	3172	HNF4A	ORPHA:263455
HP:0004360	Abnormality of acid-base homeostasis	2625	GATA3	OMIM:146255
HP:0004360	Abnormality of acid-base homeostasis	10686	CLDN16	OMIM:248250
HP:0004360	Abnormality of acid-base homeostasis	6928	HNF1B	ORPHA:1309
HP:0004360	Abnormality of acid-base homeostasis	6514	SLC2A2	OMIM:227810
HP:0004360	Abnormality of acid-base homeostasis	166785	MMAA	OMIM:251100
HP:0004360	Abnormality of acid-base homeostasis	1376	CPT2	OMIM:608836
HP:0004360	Abnormality of acid-base homeostasis	4716	NDUFB10	OMIM:619003
HP:0004360	Abnormality of acid-base homeostasis	200205	IBA57	OMIM:615330
HP:0004360	Abnormality of acid-base homeostasis	197322	ACSF3	ORPHA:289504
HP:0004360	Abnormality of acid-base homeostasis	3418	IDH2	OMIM:613657
HP:0004360	Abnormality of acid-base homeostasis	79944	L2HGDH	OMIM:236792
HP:0004360	Abnormality of acid-base homeostasis	3766	KCNJ10	ORPHA:199343
HP:0004360	Abnormality of acid-base homeostasis	6340	SCNN1G	OMIM:618114
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D	ORPHA:369929
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D	OMIM:615474
HP:0004360	Abnormality of acid-base homeostasis	6337	SCNN1A	OMIM:618126
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1	OMIM:615962
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1	ORPHA:786
HP:0004360	Abnormality of acid-base homeostasis	1811	SLC26A3	OMIM:214700
HP:0004360	Abnormality of acid-base homeostasis	3291	HSD11B2	OMIM:218030
HP:0004360	Abnormality of acid-base homeostasis	3762	KCNJ5	ORPHA:251274
HP:0004360	Abnormality of acid-base homeostasis	1188	CLCNKB	ORPHA:358
HP:0004360	Abnormality of acid-base homeostasis	6559	SLC12A3	ORPHA:358
HP:0004360	Abnormality of acid-base homeostasis	1181	CLCN2	ORPHA:404
HP:0004361	Abnormal circulating leptin concentration	10269	ZMPSTE24	ORPHA:740
HP:0004361	Abnormal circulating leptin concentration	26580	BSCL2	OMIM:269700
HP:0004361	Abnormal circulating leptin concentration	3763	KCNJ6	OMIM:614098
HP:0004361	Abnormal circulating leptin concentration	63924	CIDEC	ORPHA:435651
HP:0004361	Abnormal circulating leptin concentration	63924	CIDEC	OMIM:615238
HP:0004361	Abnormal circulating leptin concentration	3952	LEP	OMIM:614962
HP:0004361	Abnormal circulating leptin concentration	3952	LEP	ORPHA:66628
HP:0004361	Abnormal circulating leptin concentration	3991	LIPE	ORPHA:435660
HP:0004361	Abnormal circulating leptin concentration	8815	BANF1	OMIM:614008
HP:0004361	Abnormal circulating leptin concentration	3953	LEPR	ORPHA:179494
HP:0004361	Abnormal circulating leptin concentration	208	AKT2	ORPHA:79085
HP:0004361	Abnormal circulating leptin concentration	10555	AGPAT2	OMIM:608594
HP:0004361	Abnormal circulating leptin concentration	4000	LMNA	ORPHA:79474
HP:0004361	Abnormal circulating leptin concentration	109	ADCY3	OMIM:617885
HP:0004361	Abnormal circulating leptin concentration	4204	MECP2	ORPHA:778
HP:0004364	Abnormal circulating nitrogen compound concentration	435	ASL	ORPHA:23
HP:0004364	Abnormal circulating nitrogen compound concentration	435	ASL	OMIM:207900
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	ORPHA:289916
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	OMIM:251000
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	ORPHA:79312
HP:0004364	Abnormal circulating nitrogen compound concentration	10128	LRPPRC	OMIM:220111
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL	ORPHA:20
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL	OMIM:246450
HP:0004364	Abnormal circulating nitrogen compound concentration	3376	IARS1	OMIM:617093
HP:0004364	Abnormal circulating nitrogen compound concentration	26235	FBXL4	OMIM:615471
HP:0004364	Abnormal circulating nitrogen compound concentration	763	CA5A	OMIM:615751
HP:0004364	Abnormal circulating nitrogen compound concentration	5009	OTC	OMIM:311250
HP:0004364	Abnormal circulating nitrogen compound concentration	5009	OTC	ORPHA:664
HP:0004364	Abnormal circulating nitrogen compound concentration	25821	MTO1	OMIM:614702
HP:0004364	Abnormal circulating nitrogen compound concentration	10102	TSFM	OMIM:610505
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	56945	MRPS22	OMIM:611719
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1	ORPHA:147
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1	OMIM:237300
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70	ORPHA:1194
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70	OMIM:614052
HP:0004364	Abnormal circulating nitrogen compound concentration	4141	MARS1	OMIM:615486
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	OMIM:600649
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	OMIM:608836
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	ORPHA:228308
HP:0004364	Abnormal circulating nitrogen compound concentration	790	CAD	OMIM:616457
HP:0004364	Abnormal circulating nitrogen compound concentration	10157	AASS	ORPHA:2203
HP:0004364	Abnormal circulating nitrogen compound concentration	10157	AASS	ORPHA:3124
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS	OMIM:253270
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS	ORPHA:79242
HP:0004364	Abnormal circulating nitrogen compound concentration	4204	MECP2	ORPHA:778
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15	ORPHA:415
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15	OMIM:238970
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13	OMIM:603471
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13	ORPHA:247598
HP:0004364	Abnormal circulating nitrogen compound concentration	1340	COX6B1	OMIM:619051
HP:0004364	Abnormal circulating nitrogen compound concentration	1738	DLD	ORPHA:2394
HP:0004364	Abnormal circulating nitrogen compound concentration	60561	RINT1	OMIM:618641
HP:0004364	Abnormal circulating nitrogen compound concentration	513	ATP5F1D	OMIM:618120
HP:0004364	Abnormal circulating nitrogen compound concentration	686	BTD	OMIM:253260
HP:0004364	Abnormal circulating nitrogen compound concentration	686	BTD	ORPHA:79241
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2	OMIM:210210
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	128989	TANGO2	ORPHA:480864
HP:0004364	Abnormal circulating nitrogen compound concentration	128989	TANGO2	OMIM:616878
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7	OMIM:222700
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7	ORPHA:470
HP:0004364	Abnormal circulating nitrogen compound concentration	4700	NDUFA6	OMIM:618253
HP:0004364	Abnormal circulating nitrogen compound concentration	9971	NR1H4	OMIM:617049
HP:0004364	Abnormal circulating nitrogen compound concentration	2752	GLUL	OMIM:610015
HP:0004364	Abnormal circulating nitrogen compound concentration	284439	SLC25A42	OMIM:618416
HP:0004364	Abnormal circulating nitrogen compound concentration	84947	SERAC1	OMIM:614739
HP:0004364	Abnormal circulating nitrogen compound concentration	28976	ACAD9	ORPHA:99901
HP:0004364	Abnormal circulating nitrogen compound concentration	55186	SLC25A36	OMIM:620211
HP:0004364	Abnormal circulating nitrogen compound concentration	326625	MMAB	OMIM:251110
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20	ORPHA:159
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20	OMIM:212138
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1	ORPHA:90
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1	OMIM:207800
HP:0004364	Abnormal circulating nitrogen compound concentration	3028	HSD17B10	ORPHA:391428
HP:0004364	Abnormal circulating nitrogen compound concentration	51594	NBAS	OMIM:616483
HP:0004364	Abnormal circulating nitrogen compound concentration	37	ACADVL	OMIM:201475
HP:0004364	Abnormal circulating nitrogen compound concentration	37	ACADVL	ORPHA:26793
HP:0004364	Abnormal circulating nitrogen compound concentration	54914	FOCAD	OMIM:619991
HP:0004364	Abnormal circulating nitrogen compound concentration	166785	MMAA	OMIM:251100
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS	OMIM:237310
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS	ORPHA:927
HP:0004364	Abnormal circulating nitrogen compound concentration	7385	UQCRC2	OMIM:615160
HP:0004364	Abnormal circulating nitrogen compound concentration	5162	PDHB	OMIM:614111
HP:0004364	Abnormal circulating nitrogen compound concentration	440138	ALG11	OMIM:613661
HP:0004364	Abnormal circulating nitrogen compound concentration	498	ATP5F1A	OMIM:620358
HP:0004364	Abnormal circulating nitrogen compound concentration	3033	HADH	ORPHA:71212
HP:0004364	Abnormal circulating nitrogen compound concentration	5832	ALDH18A1	OMIM:219150
HP:0004364	Abnormal circulating nitrogen compound concentration	7284	TUFM	OMIM:610678
HP:0004364	Abnormal circulating nitrogen compound concentration	3030	HADHA	OMIM:609015
HP:0004364	Abnormal circulating nitrogen compound concentration	38	ACAT1	ORPHA:134
HP:0004364	Abnormal circulating nitrogen compound concentration	34	ACADM	ORPHA:42
HP:0004364	Abnormal circulating nitrogen compound concentration	1537	CYC1	OMIM:615453
HP:0004364	Abnormal circulating nitrogen compound concentration	1374	CPT1A	OMIM:255120
HP:0004364	Abnormal circulating nitrogen compound concentration	2806	GOT2	OMIM:618721
HP:0004364	Abnormal circulating nitrogen compound concentration	29960	MRM2	OMIM:618567
HP:0004364	Abnormal circulating nitrogen compound concentration	25974	MMACHC	ORPHA:79282
HP:0004364	Abnormal circulating nitrogen compound concentration	445	ASS1	OMIM:215700
HP:0004364	Abnormal circulating nitrogen compound concentration	9451	EIF2AK3	ORPHA:1667
HP:0004364	Abnormal circulating nitrogen compound concentration	506	ATP5F1B	OMIM:620085
HP:0004364	Abnormal circulating nitrogen compound concentration	56922	MCCC1	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	79587	CARS2	OMIM:616672
HP:0004364	Abnormal circulating nitrogen compound concentration	7388	UQCRH	OMIM:620137
HP:0004364	Abnormal circulating nitrogen compound concentration	6584	SLC22A5	OMIM:212140
HP:0004364	Abnormal circulating nitrogen compound concentration	25970	SH2B1	ORPHA:261222
HP:0004364	Abnormal circulating nitrogen compound concentration	5972	REN	OMIM:613092
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB	OMIM:229600
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB	ORPHA:469
HP:0004364	Abnormal circulating nitrogen compound concentration	5836	PYGL	OMIM:232700
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	OMIM:232220
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	ORPHA:79259
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	OMIM:232240
HP:0004364	Abnormal circulating nitrogen compound concentration	2203	FBP1	ORPHA:348
HP:0004364	Abnormal circulating nitrogen compound concentration	4609	MYC	ORPHA:543
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG	OMIM:604367
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG	ORPHA:79083
HP:0004364	Abnormal circulating nitrogen compound concentration	3998	LMAN1	ORPHA:35909
HP:0004364	Abnormal circulating nitrogen compound concentration	90411	MCFD2	ORPHA:35909
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B	OMIM:239000
HP:0004364	Abnormal circulating nitrogen compound concentration	8792	TNFRSF11A	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	10686	CLDN16	OMIM:248250
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM	ORPHA:371
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM	OMIM:232800
HP:0004364	Abnormal circulating nitrogen compound concentration	7369	UMOD	OMIM:162000
HP:0004364	Abnormal circulating nitrogen compound concentration	2538	G6PC1	OMIM:232200
HP:0004364	Abnormal circulating nitrogen compound concentration	5837	PYGM	OMIM:232600
HP:0004364	Abnormal circulating nitrogen compound concentration	7840	ALMS1	OMIM:203800
HP:0004364	Abnormal circulating nitrogen compound concentration	5257	PHKB	OMIM:261750
HP:0004364	Abnormal circulating nitrogen compound concentration	5256	PHKA2	OMIM:306000
HP:0004364	Abnormal circulating nitrogen compound concentration	1285	COL4A3	OMIM:104200
HP:0004364	Abnormal circulating nitrogen compound concentration	8882	ZPR1	OMIM:619321
HP:0004364	Abnormal circulating nitrogen compound concentration	8518	ELP1	OMIM:223900
HP:0004364	Abnormal circulating nitrogen compound concentration	1621	DBH	ORPHA:230
HP:0004364	Abnormal circulating nitrogen compound concentration	1621	DBH	OMIM:223360
HP:0004364	Abnormal circulating nitrogen compound concentration	51081	MRPS7	OMIM:617872
HP:0004364	Abnormal circulating nitrogen compound concentration	11093	ADAMTS13	OMIM:274150
HP:0004364	Abnormal circulating nitrogen compound concentration	4179	CD46	OMIM:612922
HP:0004364	Abnormal circulating nitrogen compound concentration	54938	SARS2	OMIM:613845
HP:0004364	Abnormal circulating nitrogen compound concentration	629	CFB	OMIM:612924
HP:0004364	Abnormal circulating nitrogen compound concentration	3426	CFI	OMIM:612923
HP:0004364	Abnormal circulating nitrogen compound concentration	7056	THBD	OMIM:612926
HP:0004364	Abnormal circulating nitrogen compound concentration	3075	CFH	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	3078	CFHR1	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	10878	CFHR3	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	718	C3	OMIM:612925
HP:0004364	Abnormal circulating nitrogen compound concentration	22909	FAN1	OMIM:614817
HP:0004364	Abnormal circulating nitrogen compound concentration	1161	ERCC8	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	2072	ERCC4	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	2074	ERCC6	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	5277	PIGA	ORPHA:447
HP:0004364	Abnormal circulating nitrogen compound concentration	3043	HBB	ORPHA:232
HP:0004364	Abnormal circulating nitrogen compound concentration	5311	PKD2	OMIM:613095
HP:0004364	Abnormal circulating nitrogen compound concentration	5311	PKD2	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	595	CCND1	ORPHA:29073
HP:0004364	Abnormal circulating nitrogen compound concentration	57545	CC2D2A	OMIM:619111
HP:0004364	Abnormal circulating nitrogen compound concentration	29927	SEC61A1	OMIM:617056
HP:0004364	Abnormal circulating nitrogen compound concentration	2321	FLT1	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	219736	STOX1	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	10699	CORIN	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	4867	NPHP1	OMIM:266900
HP:0004364	Abnormal circulating nitrogen compound concentration	10229	COQ7	OMIM:616733
HP:0004364	Abnormal circulating nitrogen compound concentration	51726	DNAJB11	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	23193	GANAB	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	5310	PKD1	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	29880	ALG5	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	9742	IFT140	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	79796	ALG9	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	80114	BICC1	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	79989	IFT56	OMIM:619534
HP:0004364	Abnormal circulating nitrogen compound concentration	6521	SLC4A1	OMIM:179800
HP:0004364	Abnormal circulating nitrogen compound concentration	6928	HNF1B	OMIM:137920
HP:0004364	Abnormal circulating nitrogen compound concentration	54916	TMEM260	OMIM:617478
HP:0004364	Abnormal circulating nitrogen compound concentration	353	APRT	OMIM:614723
HP:0004364	Abnormal circulating nitrogen compound concentration	6522	SLC4A2	OMIM:620366
HP:0004364	Abnormal circulating nitrogen compound concentration	5076	PAX2	OMIM:120330
HP:0004364	Abnormal circulating nitrogen compound concentration	11277	TREX1	ORPHA:247691
HP:0004364	Abnormal circulating nitrogen compound concentration	254428	SLC41A1	OMIM:619468
HP:0004364	Abnormal circulating nitrogen compound concentration	57728	WDR19	OMIM:614376
HP:0004364	Abnormal circulating nitrogen compound concentration	90523	MLIP	OMIM:620138
HP:0004364	Abnormal circulating nitrogen compound concentration	4582	MUC1	OMIM:174000
HP:0004364	Abnormal circulating nitrogen compound concentration	79053	ALG8	OMIM:608104
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	ORPHA:79233
HP:0004364	Abnormal circulating nitrogen compound concentration	27130	INVS	OMIM:602088
HP:0004364	Abnormal circulating nitrogen compound concentration	116085	SLC22A12	OMIM:220150
HP:0004364	Abnormal circulating nitrogen compound concentration	116085	SLC22A12	ORPHA:94088
HP:0004364	Abnormal circulating nitrogen compound concentration	6514	SLC2A2	OMIM:227810
HP:0004364	Abnormal circulating nitrogen compound concentration	56606	SLC2A9	OMIM:612076
HP:0004364	Abnormal circulating nitrogen compound concentration	56606	SLC2A9	ORPHA:94088
HP:0004364	Abnormal circulating nitrogen compound concentration	10243	GPHN	OMIM:615501
HP:0004364	Abnormal circulating nitrogen compound concentration	4337	MOCS1	OMIM:252150
HP:0004364	Abnormal circulating nitrogen compound concentration	3172	HNF4A	OMIM:616026
HP:0004364	Abnormal circulating nitrogen compound concentration	4338	MOCS2	OMIM:252160
HP:0004364	Abnormal circulating nitrogen compound concentration	5631	PRPS1	ORPHA:1187
HP:0004364	Abnormal circulating nitrogen compound concentration	540	ATP7B	OMIM:277900
HP:0004364	Abnormal circulating nitrogen compound concentration	1962	EHHADH	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	2628	GATM	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	137682	NDUFAF6	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	6569	SLC34A1	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1	ORPHA:35878
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1	OMIM:606762
HP:0004364	Abnormal circulating nitrogen compound concentration	7498	XDH	OMIM:278300
HP:0004364	Abnormal circulating nitrogen compound concentration	55034	MOCOS	OMIM:603592
HP:0004364	Abnormal circulating nitrogen compound concentration	4780	NFE2L2	OMIM:617744
HP:0004364	Abnormal circulating nitrogen compound concentration	4907	NT5E	ORPHA:289601
HP:0004364	Abnormal circulating nitrogen compound concentration	2590	GALNT2	OMIM:618885
HP:0004364	Abnormal circulating nitrogen compound concentration	2593	GAMT	OMIM:612736
HP:0004364	Abnormal circulating nitrogen compound concentration	1497	CTNS	OMIM:219800
HP:0004364	Abnormal circulating nitrogen compound concentration	554	AVPR2	OMIM:300539
HP:0004364	Abnormal circulating nitrogen compound concentration	4860	PNP	OMIM:613179
HP:0004364	Abnormal circulating nitrogen compound concentration	1890	TYMP	OMIM:603041
HP:0004364	Abnormal circulating nitrogen compound concentration	5428	POLG	OMIM:603041
HP:0004364	Abnormal circulating nitrogen compound concentration	5092	PCBD1	ORPHA:1578
HP:0004364	Abnormal circulating nitrogen compound concentration	4952	OCRL	ORPHA:534
HP:0004364	Abnormal circulating nitrogen compound concentration	1807	DPYS	OMIM:222748
HP:0004365	Abnormal circulating tryptophan concentration	8942	KYNU	ORPHA:79155
HP:0004365	Abnormal circulating tryptophan concentration	6999	TDO2	OMIM:600627
HP:0004366	Abnormality of glycolysis	9131	AIFM1	ORPHA:238329
HP:0004366	Abnormality of glycolysis	9131	AIFM1	OMIM:300816
HP:0004366	Abnormality of glycolysis	9997	SCO2	OMIM:604377
HP:0004366	Abnormality of glycolysis	1738	DLD	OMIM:246900
HP:0004366	Abnormality of glycolysis	5091	PC	OMIM:266150
HP:0004366	Abnormality of glycolysis	54539	NDUFB11	ORPHA:2609
HP:0004366	Abnormality of glycolysis	25915	NDUFAF3	ORPHA:2609
HP:0004366	Abnormality of glycolysis	51103	NDUFAF1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	91942	NDUFAF2	ORPHA:2609
HP:0004366	Abnormality of glycolysis	51300	TIMMDC1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4716	NDUFB10	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4723	NDUFV1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4723	NDUFV1	OMIM:618225
HP:0004366	Abnormality of glycolysis	55572	FOXRED1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	284184	NDUFAF8	ORPHA:2609
HP:0004366	Abnormality of glycolysis	55863	TMEM126B	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4535	MT-ND1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4537	MT-ND3	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4729	NDUFV2	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4694	NDUFA1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4720	NDUFS2	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4724	NDUFS4	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4726	NDUFS6	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4728	NDUFS8	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4728	NDUFS8	OMIM:618222
HP:0004366	Abnormality of glycolysis	4722	NDUFS3	ORPHA:2609
HP:0004366	Abnormality of glycolysis	79133	NDUFAF5	ORPHA:2609
HP:0004366	Abnormality of glycolysis	126328	NDUFA11	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4709	NDUFB3	ORPHA:2609
HP:0004366	Abnormality of glycolysis	80224	NUBPL	ORPHA:2609
HP:0004366	Abnormality of glycolysis	29078	NDUFAF4	ORPHA:2609
HP:0004366	Abnormality of glycolysis	374291	NDUFS7	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4700	NDUFA6	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4536	MT-ND2	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4719	NDUFS1	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4715	NDUFB9	ORPHA:2609
HP:0004366	Abnormality of glycolysis	51241	COX16	OMIM:619355
HP:0004366	Abnormality of glycolysis	51660	MPC1	OMIM:614741
HP:0004366	Abnormality of glycolysis	9361	LONP1	ORPHA:79243
HP:0004366	Abnormality of glycolysis	5160	PDHA1	ORPHA:79243
HP:0004366	Abnormality of glycolysis	5160	PDHA1	OMIM:312170
HP:0004366	Abnormality of glycolysis	4566	MT-TK	ORPHA:1349
HP:0004366	Abnormality of glycolysis	4566	MT-TK	OMIM:545000
HP:0004366	Abnormality of glycolysis	5428	POLG	ORPHA:94125
HP:0004366	Abnormality of glycolysis	1339	COX6A2	OMIM:619062
HP:0004366	Abnormality of glycolysis	8050	PDHX	OMIM:245349
HP:0004366	Abnormality of glycolysis	617	BCS1L	OMIM:603358
HP:0004366	Abnormality of glycolysis	6390	SDHB	OMIM:619224
HP:0004366	Abnormality of glycolysis	3735	KARS1	OMIM:619147
HP:0004366	Abnormality of glycolysis	4558	MT-TF	OMIM:545000
HP:0004366	Abnormality of glycolysis	4567	MT-TL1	OMIM:545000
HP:0004366	Abnormality of glycolysis	4571	MT-TP	OMIM:545000
HP:0004366	Abnormality of glycolysis	4565	MT-TI	OMIM:545000
HP:0004366	Abnormality of glycolysis	7385	UQCRC2	OMIM:615160
HP:0004366	Abnormality of glycolysis	39	ACAT2	OMIM:614055
HP:0004366	Abnormality of glycolysis	115286	SLC25A26	OMIM:616794
HP:0004366	Abnormality of glycolysis	1352	COX10	OMIM:619046
HP:0004366	Abnormality of glycolysis	387787	LIPT2	OMIM:617668
HP:0004366	Abnormality of glycolysis	56652	TWNK	OMIM:616138
HP:0004366	Abnormality of glycolysis	10531	PITRM1	OMIM:619405
HP:0004366	Abnormality of glycolysis	3939	LDHA	OMIM:612933
HP:0004366	Abnormality of glycolysis	50640	PNPLA8	OMIM:251950
HP:0004366	Abnormality of glycolysis	4204	MECP2	ORPHA:778
HP:0004368	Increased circulating purine concentration	7498	XDH	OMIM:278300
HP:0004368	Increased circulating purine concentration	4860	PNP	OMIM:613179
HP:0004368	Increased circulating purine concentration	55034	MOCOS	OMIM:603592
HP:0030216	Inertia	57338	JPH3	OMIM:606438
HP:0030216	Inertia	80025	PANK2	ORPHA:216873
HP:0030216	Inertia	2332	FMR1	ORPHA:93256
HP:0030216	Inertia	6310	ATXN1	ORPHA:98755
HP:0030216	Inertia	5575	PRKAR1B	ORPHA:412066
HP:0030215	Inappropriate crying	79796	ALG9	ORPHA:79328
HP:0030215	Inappropriate crying	23096	IQSEC2	ORPHA:397933
HP:0030215	Inappropriate crying	6792	CDKL5	ORPHA:3095
HP:0030215	Inappropriate crying	22854	NTNG1	ORPHA:3095
HP:0030215	Inappropriate crying	9568	GABBR2	ORPHA:3095
HP:0030215	Inappropriate crying	9568	GABBR2	OMIM:617903
HP:0030215	Inappropriate crying	4204	MECP2	ORPHA:3095
HP:0030215	Inappropriate crying	8243	SMC1A	ORPHA:3095
HP:0030215	Inappropriate crying	29968	PSAT1	ORPHA:284417
HP:0030215	Inappropriate crying	56992	KIF15	ORPHA:261323
HP:0030215	Inappropriate crying	80704	SLC19A3	ORPHA:263410
HP:0030215	Inappropriate crying	23102	TBC1D2B	OMIM:619323
HP:0030215	Inappropriate crying	94005	PIGS	OMIM:618143
HP:0030215	Inappropriate crying	54914	FOCAD	OMIM:619991
HP:0030215	Inappropriate crying	2290	FOXG1	OMIM:613454
HP:0030215	Inappropriate crying	26227	PHGDH	ORPHA:79351
HP:0030215	Inappropriate crying	2581	GALC	ORPHA:206436
HP:0030215	Inappropriate crying	5660	PSAP	ORPHA:206436
HP:0030215	Inappropriate crying	6571	SLC18A2	ORPHA:352649
HP:0030214	Hypersexuality	540	ATP7B	ORPHA:905
HP:0030214	Hypersexuality	6999	TDO2	OMIM:600627
HP:0030214	Hypersexuality	2896	GRN	OMIM:607485
HP:0030213	Emotional blunting	25978	CHMP2B	ORPHA:275864
HP:0030213	Emotional blunting	5663	PSEN1	ORPHA:275864
HP:0030213	Emotional blunting	5663	PSEN1	OMIM:172700
HP:0030213	Emotional blunting	2896	GRN	ORPHA:275864
HP:0030213	Emotional blunting	54664	TMEM106B	ORPHA:275864
HP:0030213	Emotional blunting	8878	SQSTM1	ORPHA:275864
HP:0030213	Emotional blunting	4137	MAPT	ORPHA:275864
HP:0030213	Emotional blunting	4137	MAPT	OMIM:172700
HP:0030213	Emotional blunting	54209	TREM2	ORPHA:275864
HP:0030213	Emotional blunting	7415	VCP	ORPHA:275864
HP:0030213	Emotional blunting	1798	DPAGT1	ORPHA:86309
HP:0030212	Collectionism	25978	CHMP2B	ORPHA:275864
HP:0030212	Collectionism	5663	PSEN1	ORPHA:275864
HP:0030212	Collectionism	2896	GRN	ORPHA:275864
HP:0030212	Collectionism	54664	TMEM106B	ORPHA:275864
HP:0030212	Collectionism	8878	SQSTM1	ORPHA:275864
HP:0030212	Collectionism	4137	MAPT	ORPHA:275864
HP:0030212	Collectionism	54209	TREM2	ORPHA:275864
HP:0030212	Collectionism	7415	VCP	ORPHA:275864
HP:0030212	Collectionism	6532	SLC6A4	OMIM:164230
HP:0030212	Collectionism	3356	HTR2A	OMIM:164230
HP:0030211	Slow pupillary light response	80781	COL18A1	OMIM:267750
HP:0030211	Slow pupillary light response	4359	MPZ	OMIM:607736
HP:0030211	Slow pupillary light response	9255	AIMP1	OMIM:260600
HP:0030211	Slow pupillary light response	5631	PRPS1	ORPHA:423479
HP:0030211	Slow pupillary light response	5376	PMP22	ORPHA:90658
HP:0030211	Slow pupillary light response	8292	COLQ	ORPHA:98915
HP:0030211	Slow pupillary light response	3913	LAMB2	ORPHA:98915
HP:0030211	Slow pupillary light response	7287	TULP1	OMIM:613843
HP:0030211	Slow pupillary light response	2581	GALC	ORPHA:206436
HP:0030211	Slow pupillary light response	5660	PSAP	ORPHA:206436
HP:0030211	Slow pupillary light response	1131	CHRM3	OMIM:100100
HP:0030211	Slow pupillary light response	1136	CHRNA3	OMIM:191800
HP:0030219	Semantic dementia	5663	PSEN1	ORPHA:1020
HP:0030219	Semantic dementia	5664	PSEN2	ORPHA:1020
HP:0030219	Semantic dementia	10452	TOMM40	ORPHA:1020
HP:0030219	Semantic dementia	351	APP	ORPHA:1020
HP:0030219	Semantic dementia	54209	TREM2	ORPHA:1020
HP:0030219	Semantic dementia	10347	ABCA7	ORPHA:1020
HP:0030219	Semantic dementia	6653	SORL1	ORPHA:1020
HP:0030218	Punding	6513	SLC2A1	ORPHA:64280
HP:0030218	Punding	2562	GABRB3	ORPHA:64280
HP:0030218	Punding	2554	GABRA1	ORPHA:64280
HP:0030218	Punding	8912	CACNA1H	ORPHA:64280
HP:0030218	Punding	8629	JRK	ORPHA:64280
HP:0030218	Punding	2566	GABRG2	ORPHA:64280
HP:0030217	Limb apraxia	4137	MAPT	ORPHA:240112
HP:0030217	Limb apraxia	4137	MAPT	ORPHA:240103
HP:0030217	Limb apraxia	4204	MECP2	ORPHA:778
HP:0020006	Ciliary body coloboma	8260	NAA10	OMIM:309800
HP:0020006	Ciliary body coloboma	54880	BCOR	OMIM:309800
HP:0030220	Socially inappropriate behavior	23230	VPS13A	ORPHA:2388
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:397
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:29207
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	8974	P4HA2	ORPHA:397
HP:0004370	Abnormality of temperature regulation	4282	MIF	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	3569	IL6	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	8573	CASK	OMIM:300908
HP:0004370	Abnormality of temperature regulation	2539	G6PD	OMIM:300908
HP:0004370	Abnormality of temperature regulation	171023	ASXL1	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	3815	KIT	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	6427	SRSF2	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	6556	SLC11A1	ORPHA:3389
HP:0004370	Abnormality of temperature regulation	5314	PKHD1	ORPHA:53035
HP:0004370	Abnormality of temperature regulation	2038	EPB42	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6521	SLC4A1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6710	SPTB	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6710	SPTB	ORPHA:288
HP:0004370	Abnormality of temperature regulation	6708	SPTA1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6708	SPTA1	ORPHA:288
HP:0004370	Abnormality of temperature regulation	286	ANK1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	249	ALPL	OMIM:241500
HP:0004370	Abnormality of temperature regulation	939	CD27	OMIM:615122
HP:0004370	Abnormality of temperature regulation	84936	ZFYVE19	OMIM:619849
HP:0004370	Abnormality of temperature regulation	6523	SLC5A1	ORPHA:35710
HP:0004370	Abnormality of temperature regulation	1536	CYBB	ORPHA:379
HP:0004370	Abnormality of temperature regulation	1536	CYBB	OMIM:306400
HP:0004370	Abnormality of temperature regulation	4688	NCF2	ORPHA:379
HP:0004370	Abnormality of temperature regulation	1535	CYBA	ORPHA:379
HP:0004370	Abnormality of temperature regulation	4689	NCF4	ORPHA:379
HP:0004370	Abnormality of temperature regulation	653361	NCF1	ORPHA:379
HP:0004370	Abnormality of temperature regulation	79415	CYBC1	ORPHA:379
HP:0004370	Abnormality of temperature regulation	79415	CYBC1	OMIM:618935
HP:0004370	Abnormality of temperature regulation	6772	STAT1	OMIM:614162
HP:0004370	Abnormality of temperature regulation	2859	GPR35	ORPHA:171
HP:0004370	Abnormality of temperature regulation	10507	SEMA4D	ORPHA:171
HP:0004370	Abnormality of temperature regulation	4485	MST1	ORPHA:171
HP:0004370	Abnormality of temperature regulation	6925	TCF4	ORPHA:171
HP:0004370	Abnormality of temperature regulation	5699	PSMB10	OMIM:619175
HP:0004370	Abnormality of temperature regulation	5896	RAG1	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	5896	RAG1	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5897	RAG2	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	5897	RAG2	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5621	PRNP	OMIM:600072
HP:0004370	Abnormality of temperature regulation	2035	EPB41	ORPHA:288
HP:0004370	Abnormality of temperature regulation	2995	GYPC	ORPHA:288
HP:0004370	Abnormality of temperature regulation	1130	LYST	ORPHA:167
HP:0004370	Abnormality of temperature regulation	23400	ATP13A2	ORPHA:306674
HP:0004370	Abnormality of temperature regulation	477	ATP1A2	OMIM:602481
HP:0004370	Abnormality of temperature regulation	1244	ABCC2	ORPHA:234
HP:0004370	Abnormality of temperature regulation	595	CCND1	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	472	ATM	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:545
HP:0004370	Abnormality of temperature regulation	55768	NGLY1	OMIM:615273
HP:0004370	Abnormality of temperature regulation	330	BIRC3	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	10892	MALT1	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	27086	FOXP1	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	8915	BCL10	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	6340	SCNN1G	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	1080	CFTR	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	1080	CFTR	OMIM:167800
HP:0004370	Abnormality of temperature regulation	6337	SCNN1A	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	6338	SCNN1B	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	4519	MT-CYB	ORPHA:137675
HP:0004370	Abnormality of temperature regulation	7454	WAS	ORPHA:906
HP:0004370	Abnormality of temperature regulation	7456	WIPF1	ORPHA:906
HP:0004370	Abnormality of temperature regulation	1493	CTLA4	ORPHA:900
HP:0004370	Abnormality of temperature regulation	3115	HLA-DPB1	ORPHA:900
HP:0004370	Abnormality of temperature regulation	5657	PRTN3	ORPHA:900
HP:0004370	Abnormality of temperature regulation	3113	HLA-DPA1	ORPHA:900
HP:0004370	Abnormality of temperature regulation	80704	SLC19A3	OMIM:607483
HP:0004370	Abnormality of temperature regulation	2624	GATA2	ORPHA:3226
HP:0004370	Abnormality of temperature regulation	11330	CTRC	OMIM:167800
HP:0004370	Abnormality of temperature regulation	6690	SPINK1	OMIM:167800
HP:0004370	Abnormality of temperature regulation	5645	PRSS2	OMIM:167800
HP:0004370	Abnormality of temperature regulation	5644	PRSS1	OMIM:167800
HP:0004370	Abnormality of temperature regulation	23175	LPIN1	OMIM:268200
HP:0004370	Abnormality of temperature regulation	23175	LPIN1	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	3575	IL7R	ORPHA:169154
HP:0004370	Abnormality of temperature regulation	3575	IL7R	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	4665	NAB2	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	6778	STAT6	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	4512	MT-CO1	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	4512	MT-CO1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4514	MT-CO3	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	4514	MT-CO3	ORPHA:550
HP:0004370	Abnormality of temperature regulation	3662	IRF4	ORPHA:3452
HP:0004370	Abnormality of temperature regulation	11128	POLR3A	ORPHA:3455
HP:0004370	Abnormality of temperature regulation	38	ACAT1	ORPHA:134
HP:0004370	Abnormality of temperature regulation	695	BTK	ORPHA:47
HP:0004370	Abnormality of temperature regulation	5373	PMM2	ORPHA:79318
HP:0004370	Abnormality of temperature regulation	2153	F5	ORPHA:131
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2	ORPHA:86884
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2	OMIM:618398
HP:0004370	Abnormality of temperature regulation	2184	FAH	OMIM:276700
HP:0004370	Abnormality of temperature regulation	6583	SLC22A4	OMIM:180300
HP:0004370	Abnormality of temperature regulation	4261	CIITA	OMIM:180300
HP:0004370	Abnormality of temperature regulation	51744	CD244	OMIM:180300
HP:0004370	Abnormality of temperature regulation	4795	NFKBIL1	OMIM:180300
HP:0004370	Abnormality of temperature regulation	3586	IL10	OMIM:180300
HP:0004370	Abnormality of temperature regulation	3586	IL10	ORPHA:117
HP:0004370	Abnormality of temperature regulation	1967	EIF2B1	OMIM:603896
HP:0004370	Abnormality of temperature regulation	2672	GFI1	ORPHA:486
HP:0004370	Abnormality of temperature regulation	6729	SRP54	ORPHA:486
HP:0004370	Abnormality of temperature regulation	81570	CLPB	ORPHA:486
HP:0004370	Abnormality of temperature regulation	226	ALDOA	ORPHA:57
HP:0004370	Abnormality of temperature regulation	4615	MYD88	ORPHA:33226
HP:0004370	Abnormality of temperature regulation	4615	MYD88	ORPHA:183713
HP:0004370	Abnormality of temperature regulation	10568	SLC34A2	ORPHA:60025
HP:0004370	Abnormality of temperature regulation	3394	IRF8	OMIM:614893
HP:0004370	Abnormality of temperature regulation	3394	IRF8	OMIM:226990
HP:0004370	Abnormality of temperature regulation	3394	IRF8	ORPHA:319600
HP:0004370	Abnormality of temperature regulation	204	AK2	ORPHA:33355
HP:0004370	Abnormality of temperature regulation	3075	CFH	OMIM:235400
HP:0004370	Abnormality of temperature regulation	3078	CFHR1	OMIM:235400
HP:0004370	Abnormality of temperature regulation	10878	CFHR3	OMIM:235400
HP:0004370	Abnormality of temperature regulation	2068	ERCC2	ORPHA:910
HP:0004370	Abnormality of temperature regulation	7507	XPA	ORPHA:910
HP:0004370	Abnormality of temperature regulation	2071	ERCC3	ORPHA:910
HP:0004370	Abnormality of temperature regulation	7508	XPC	ORPHA:910
HP:0004370	Abnormality of temperature regulation	1643	DDB2	ORPHA:910
HP:0004370	Abnormality of temperature regulation	2073	ERCC5	ORPHA:910
HP:0004370	Abnormality of temperature regulation	6929	TCF3	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	973	CD79A	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	974	CD79B	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	3543	IGLL1	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	3507	IGHM	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	29760	BLNK	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	5295	PIK3R1	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	56262	LRRC8A	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	149233	IL23R	ORPHA:117
HP:0004370	Abnormality of temperature regulation	1230	CCR1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	355	FAS	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3592	IL12A	ORPHA:117
HP:0004370	Abnormality of temperature regulation	101928376	IL12A-AS1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	7099	TLR4	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3459	IFNGR1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3459	IFNGR1	OMIM:209950
HP:0004370	Abnormality of temperature regulation	720	C4A	ORPHA:117
HP:0004370	Abnormality of temperature regulation	337867	UBAC2	ORPHA:117
HP:0004370	Abnormality of temperature regulation	51752	ERAP1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	8302	KLRC4	ORPHA:117
HP:0004370	Abnormality of temperature regulation	7187	TRAF3	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	81622	UNC93B1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	148022	TICAM1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	7098	TLR3	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	29110	TBK1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	4558	MT-TF	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4572	MT-TQ	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4513	MT-CO2	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4574	MT-TS1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4575	MT-TS2	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4564	MT-TH	ORPHA:550
HP:0004370	Abnormality of temperature regulation	201294	UNC13D	OMIM:608898
HP:0004370	Abnormality of temperature regulation	201294	UNC13D	ORPHA:540
HP:0004370	Abnormality of temperature regulation	55388	MCM10	OMIM:619313
HP:0004370	Abnormality of temperature regulation	3932	LCK	OMIM:615758
HP:0004370	Abnormality of temperature regulation	3875	KRT18	OMIM:215600
HP:0004370	Abnormality of temperature regulation	6696	SPP1	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	3654	IRAK1	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	9256	TSPOAP1	ORPHA:101150
HP:0004370	Abnormality of temperature regulation	7054	TH	ORPHA:101150
HP:0004370	Abnormality of temperature regulation	596	BCL2	ORPHA:545
HP:0004370	Abnormality of temperature regulation	604	BCL6	ORPHA:545
HP:0004370	Abnormality of temperature regulation	7157	TP53	ORPHA:668
HP:0004370	Abnormality of temperature regulation	5925	RB1	ORPHA:668
HP:0004370	Abnormality of temperature regulation	11200	CHEK2	ORPHA:668
HP:0004370	Abnormality of temperature regulation	4695	NDUFA2	OMIM:618235
HP:0004370	Abnormality of temperature regulation	23095	KIF1B	OMIM:256700
HP:0004370	Abnormality of temperature regulation	3350	HTR1A	OMIM:614674
HP:0004370	Abnormality of temperature regulation	672	BRCA1	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	675	BRCA2	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	675	BRCA2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	5774	PTPN3	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	11093	ADAMTS13	OMIM:274150
HP:0004370	Abnormality of temperature regulation	7248	TSC1	ORPHA:538
HP:0004370	Abnormality of temperature regulation	7249	TSC2	ORPHA:538
HP:0004370	Abnormality of temperature regulation	3930	LBR	ORPHA:779
HP:0004370	Abnormality of temperature regulation	5978	REST	ORPHA:654
HP:0004370	Abnormality of temperature regulation	129563	DIS3L2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	9319	TRIP13	ORPHA:654
HP:0004370	Abnormality of temperature regulation	7490	WT1	ORPHA:654
HP:0004370	Abnormality of temperature regulation	7490	WT1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	10155	TRIM28	ORPHA:654
HP:0004370	Abnormality of temperature regulation	11281	POU6F2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	2719	GPC3	ORPHA:654
HP:0004370	Abnormality of temperature regulation	283120	H19	ORPHA:654
HP:0004370	Abnormality of temperature regulation	4868	NPHS1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23607	CD2AP	ORPHA:656
HP:0004370	Abnormality of temperature regulation	9688	NUP93	ORPHA:656
HP:0004370	Abnormality of temperature regulation	4643	MYO1E	ORPHA:656
HP:0004370	Abnormality of temperature regulation	64423	INF2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	26130	GAPVD1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	57122	NUP107	ORPHA:656
HP:0004370	Abnormality of temperature regulation	51479	ANKFY1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	54443	ANLN	ORPHA:656
HP:0004370	Abnormality of temperature regulation	5800	PTPRO	ORPHA:656
HP:0004370	Abnormality of temperature regulation	286204	CRB2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23165	NUP205	ORPHA:656
HP:0004370	Abnormality of temperature regulation	2013	EMP2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79023	NUP37	ORPHA:656
HP:0004370	Abnormality of temperature regulation	51196	PLCE1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79902	NUP85	ORPHA:656
HP:0004370	Abnormality of temperature regulation	1285	COL4A3	ORPHA:656
HP:0004370	Abnormality of temperature regulation	396	ARHGDIA	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79934	COQ8B	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23279	NUP160	ORPHA:656
HP:0004370	Abnormality of temperature regulation	9863	MAGI2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	81	ACTN4	ORPHA:656
HP:0004370	Abnormality of temperature regulation	7225	TRPC6	ORPHA:656
HP:0004370	Abnormality of temperature regulation	8542	APOL1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	54885	TBC1D8B	ORPHA:656
HP:0004370	Abnormality of temperature regulation	7827	NPHS2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	83478	ARHGAP24	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23500	DAAM2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	5076	PAX2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	55746	NUP133	ORPHA:656
HP:0004370	Abnormality of temperature regulation	915	CD3D	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	916	CD3E	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	10320	IKZF1	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	10588	MTHFS	OMIM:618367
HP:0004370	Abnormality of temperature regulation	6774	STAT3	ORPHA:2314
HP:0004370	Abnormality of temperature regulation	6774	STAT3	ORPHA:520
HP:0004370	Abnormality of temperature regulation	26525	IL36RN	OMIM:614204
HP:0004370	Abnormality of temperature regulation	2717	GLA	ORPHA:324
HP:0004370	Abnormality of temperature regulation	6557	SLC12A1	OMIM:601678
HP:0004370	Abnormality of temperature regulation	5903	RANBP2	ORPHA:88619
HP:0004370	Abnormality of temperature regulation	3758	KCNJ1	OMIM:241200
HP:0004370	Abnormality of temperature regulation	1376	CPT2	OMIM:614212
HP:0004370	Abnormality of temperature regulation	1376	CPT2	OMIM:608836
HP:0004370	Abnormality of temperature regulation	1380	CR2	OMIM:614699
HP:0004370	Abnormality of temperature regulation	5873	RAB27A	ORPHA:79477
HP:0004370	Abnormality of temperature regulation	5873	RAB27A	OMIM:607624
HP:0004370	Abnormality of temperature regulation	773	CACNA1A	OMIM:141500
HP:0004370	Abnormality of temperature regulation	55975	KLHL7	OMIM:617055
HP:0004370	Abnormality of temperature regulation	5167	ENPP1	ORPHA:51608
HP:0004370	Abnormality of temperature regulation	368	ABCC6	ORPHA:51608
HP:0004370	Abnormality of temperature regulation	10019	SH2B3	OMIM:254450
HP:0004370	Abnormality of temperature regulation	2548	GAA	OMIM:232300
HP:0004370	Abnormality of temperature regulation	6023	RMRP	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	55636	CHD7	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3981	LIG4	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	64421	DCLRE1C	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	374879	ZNF699	OMIM:619488
HP:0004370	Abnormality of temperature regulation	60468	BACH2	OMIM:618394
HP:0004370	Abnormality of temperature regulation	5788	PTPRC	OMIM:619924
HP:0004370	Abnormality of temperature regulation	1277	COL1A1	ORPHA:1310
HP:0004370	Abnormality of temperature regulation	1277	COL1A1	OMIM:114000
HP:0004370	Abnormality of temperature regulation	5294	PIK3CG	OMIM:619802
HP:0004370	Abnormality of temperature regulation	50485	SMARCAL1	OMIM:242900
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A	ORPHA:615
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A	ORPHA:520
HP:0004370	Abnormality of temperature regulation	3988	LIPA	ORPHA:75233
HP:0004370	Abnormality of temperature regulation	2215	FCGR3B	ORPHA:464370
HP:0004370	Abnormality of temperature regulation	2203	FBP1	OMIM:229700
HP:0004370	Abnormality of temperature regulation	51371	POMP	OMIM:618048
HP:0004370	Abnormality of temperature regulation	51081	MRPS7	OMIM:617872
HP:0004370	Abnormality of temperature regulation	551	AVP	ORPHA:30925
HP:0004370	Abnormality of temperature regulation	3458	IFNG	OMIM:618963
HP:0004370	Abnormality of temperature regulation	3593	IL12B	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	6945	MLX	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	57410	SCYL1	ORPHA:466794
HP:0004370	Abnormality of temperature regulation	9451	EIF2AK3	ORPHA:1667
HP:0004370	Abnormality of temperature regulation	613	BCR	ORPHA:521
HP:0004370	Abnormality of temperature regulation	25	ABL1	ORPHA:521
HP:0004370	Abnormality of temperature regulation	861	RUNX1	ORPHA:521
HP:0004370	Abnormality of temperature regulation	5371	PML	ORPHA:520
HP:0004370	Abnormality of temperature regulation	5914	RARA	ORPHA:520
HP:0004370	Abnormality of temperature regulation	359948	IRF2BP2	ORPHA:520
HP:0004370	Abnormality of temperature regulation	81608	FIP1L1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	4869	NPM1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	54880	BCOR	ORPHA:520
HP:0004370	Abnormality of temperature regulation	64859	NABP1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6777	STAT5B	ORPHA:520
HP:0004370	Abnormality of temperature regulation	4926	NUMA1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	7704	ZBTB16	ORPHA:520
HP:0004370	Abnormality of temperature regulation	79718	TBL1XR1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	9051	PSTPIP1	ORPHA:69126
HP:0004370	Abnormality of temperature regulation	7388	UQCRH	OMIM:620137
HP:0004370	Abnormality of temperature regulation	1371	CPOX	ORPHA:79273
HP:0004370	Abnormality of temperature regulation	3145	HMBS	ORPHA:79276
HP:0004370	Abnormality of temperature regulation	3561	IL2RG	ORPHA:276
HP:0004370	Abnormality of temperature regulation	9663	LPIN2	OMIM:609628
HP:0004370	Abnormality of temperature regulation	1589	CYP21A2	OMIM:201910
HP:0004370	Abnormality of temperature regulation	970	CD70	OMIM:618261
HP:0004370	Abnormality of temperature regulation	30011	SH3KBP1	OMIM:300310
HP:0004370	Abnormality of temperature regulation	90268	OTULIN	OMIM:617099
HP:0004370	Abnormality of temperature regulation	8367	H4C5	OMIM:619950
HP:0004370	Abnormality of temperature regulation	1053	CEBPE	OMIM:260570
HP:0004370	Abnormality of temperature regulation	3043	HBB	ORPHA:231214
HP:0004370	Abnormality of temperature regulation	3043	HBB	ORPHA:231226
HP:0004370	Abnormality of temperature regulation	3702	ITK	OMIM:613011
HP:0004370	Abnormality of temperature regulation	54914	FOCAD	OMIM:619991
HP:0004370	Abnormality of temperature regulation	331	XIAP	OMIM:300635
HP:0004370	Abnormality of temperature regulation	331	XIAP	OMIM:308240
HP:0004370	Abnormality of temperature regulation	6711	SPTBN1	OMIM:619475
HP:0004370	Abnormality of temperature regulation	85446	ZFHX2	OMIM:147430
HP:0004370	Abnormality of temperature regulation	5190	PEX6	OMIM:614863
HP:0004370	Abnormality of temperature regulation	4598	MVK	OMIM:260920
HP:0004370	Abnormality of temperature regulation	4598	MVK	ORPHA:343
HP:0004370	Abnormality of temperature regulation	100151683	RNU4ATAC	OMIM:210710
HP:0004370	Abnormality of temperature regulation	5580	PRKCD	OMIM:615559
HP:0004370	Abnormality of temperature regulation	2643	GCH1	OMIM:233910
HP:0004370	Abnormality of temperature regulation	4803	NGF	OMIM:608654
HP:0004370	Abnormality of temperature regulation	718	C3	OMIM:613779
HP:0004370	Abnormality of temperature regulation	51284	TLR7	OMIM:301080
HP:0004370	Abnormality of temperature regulation	5551	PRF1	OMIM:603553
HP:0004370	Abnormality of temperature regulation	8676	STX11	OMIM:603552
HP:0004370	Abnormality of temperature regulation	58484	NLRC4	OMIM:616050
HP:0004370	Abnormality of temperature regulation	7317	UBA1	OMIM:301054
HP:0004370	Abnormality of temperature regulation	57511	COG6	ORPHA:363523
HP:0004370	Abnormality of temperature regulation	9948	WDR1	OMIM:150550
HP:0004370	Abnormality of temperature regulation	22861	NLRP1	OMIM:617388
HP:0004370	Abnormality of temperature regulation	6813	STXBP2	OMIM:613101
HP:0004370	Abnormality of temperature regulation	51816	ADA2	OMIM:615688
HP:0004370	Abnormality of temperature regulation	91662	NLRP12	OMIM:611762
HP:0004370	Abnormality of temperature regulation	5376	PMP22	ORPHA:98916
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A	ORPHA:32960
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A	OMIM:142680
HP:0004370	Abnormality of temperature regulation	91949	COG7	ORPHA:79333
HP:0004370	Abnormality of temperature regulation	4068	SH2D1A	OMIM:308240
HP:0004370	Abnormality of temperature regulation	55343	SLC35C1	ORPHA:99843
HP:0004370	Abnormality of temperature regulation	427	ASAH1	ORPHA:333
HP:0004370	Abnormality of temperature regulation	427	ASAH1	OMIM:228000
HP:0004370	Abnormality of temperature regulation	5805	PTS	OMIM:261640
HP:0004370	Abnormality of temperature regulation	55739	NAXD	OMIM:618321
HP:0004370	Abnormality of temperature regulation	5966	REL	OMIM:619652
HP:0004370	Abnormality of temperature regulation	10134	BCAP31	ORPHA:369939
HP:0004370	Abnormality of temperature regulation	5692	PSMB4	OMIM:617591
HP:0004370	Abnormality of temperature regulation	5698	PSMB9	OMIM:617591
HP:0004370	Abnormality of temperature regulation	50619	DEF6	OMIM:619573
HP:0004370	Abnormality of temperature regulation	200205	IBA57	OMIM:615330
HP:0004370	Abnormality of temperature regulation	7128	TNFAIP3	OMIM:616744
HP:0004370	Abnormality of temperature regulation	100	ADA	OMIM:102700
HP:0004370	Abnormality of temperature regulation	1777	DNASE2	OMIM:619858
HP:0004370	Abnormality of temperature regulation	10616	RBCK1	OMIM:615895
HP:0004370	Abnormality of temperature regulation	6786	STIM1	OMIM:612783
HP:0004370	Abnormality of temperature regulation	6773	STAT2	OMIM:618886
HP:0004370	Abnormality of temperature regulation	340061	STING1	OMIM:615934
HP:0004370	Abnormality of temperature regulation	1585	CYP11B2	OMIM:203400
HP:0004370	Abnormality of temperature regulation	506	ATP5F1B	OMIM:620085
HP:0004370	Abnormality of temperature regulation	56984	PSMG2	OMIM:619183
HP:0004370	Abnormality of temperature regulation	6850	SYK	OMIM:619381
HP:0004370	Abnormality of temperature regulation	2000	ELF4	OMIM:301074
HP:0004370	Abnormality of temperature regulation	5860	QDPR	OMIM:261630
HP:0004370	Abnormality of temperature regulation	205327	C2orf69	OMIM:619423
HP:0004370	Abnormality of temperature regulation	8737	RIPK1	OMIM:618852
HP:0004370	Abnormality of temperature regulation	254428	SLC41A1	OMIM:619468
HP:0004370	Abnormality of temperature regulation	341208	HEPHL1	OMIM:261990
HP:0004370	Abnormality of temperature regulation	64127	NOD2	OMIM:617321
HP:0004370	Abnormality of temperature regulation	1794	DOCK2	OMIM:616433
HP:0004370	Abnormality of temperature regulation	55315	SLC29A3	ORPHA:168569
HP:0004370	Abnormality of temperature regulation	6559	SLC12A3	OMIM:263800
HP:0004370	Abnormality of temperature regulation	5696	PSMB8	OMIM:256040
HP:0004370	Abnormality of temperature regulation	165918	RNF168	ORPHA:420741
HP:0004370	Abnormality of temperature regulation	80216	ALPK1	OMIM:614979
HP:0004370	Abnormality of temperature regulation	3909	LAMA3	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	3918	LAMC2	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	3914	LAMB3	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	359	AQP2	OMIM:125800
HP:0004370	Abnormality of temperature regulation	55858	TMEM165	OMIM:614727
HP:0004370	Abnormality of temperature regulation	2581	GALC	ORPHA:206436
HP:0004370	Abnormality of temperature regulation	5660	PSAP	ORPHA:206436
HP:0004370	Abnormality of temperature regulation	10535	RNASEH2A	ORPHA:51
HP:0004370	Abnormality of temperature regulation	84153	RNASEH2C	ORPHA:51
HP:0004370	Abnormality of temperature regulation	25939	SAMHD1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	79621	RNASEH2B	ORPHA:51
HP:0004370	Abnormality of temperature regulation	103	ADAR	ORPHA:51
HP:0004370	Abnormality of temperature regulation	11277	TREX1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	100147744	RNU7-1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	134353	LSM11	ORPHA:51
HP:0004370	Abnormality of temperature regulation	64135	IFIH1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	54675	CRLS1	OMIM:620167
HP:0004370	Abnormality of temperature regulation	7080	NKX2-1	ORPHA:209905
HP:0004370	Abnormality of temperature regulation	554	AVPR2	OMIM:304800
HP:0004370	Abnormality of temperature regulation	7259	TSPYL1	ORPHA:168593
HP:0004370	Abnormality of temperature regulation	7259	TSPYL1	OMIM:608800
HP:0004370	Abnormality of temperature regulation	3155	HMGCL	ORPHA:20
HP:0004370	Abnormality of temperature regulation	538	ATP7A	ORPHA:198
HP:0004370	Abnormality of temperature regulation	538	ATP7A	OMIM:309400
HP:0004370	Abnormality of temperature regulation	538	ATP7A	ORPHA:565
HP:0004370	Abnormality of temperature regulation	775	CACNA1C	OMIM:601005
HP:0004370	Abnormality of temperature regulation	6335	SCN9A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	11280	SCN11A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	6336	SCN10A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	5626	PROP1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	89884	LHX4	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	8022	LHX3	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	5449	POU1F1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	8820	HESX1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	125988	MICOS13	OMIM:618329
HP:0004370	Abnormality of temperature regulation	388753	COA6	OMIM:616501
HP:0004370	Abnormality of temperature regulation	405753	DUOXA2	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	6528	SLC5A5	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	7038	TG	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	7173	TPO	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	389434	IYD	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	50506	DUOX2	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	50506	DUOX2	ORPHA:226316
HP:0004370	Abnormality of temperature regulation	25974	MMACHC	ORPHA:79282
HP:0004370	Abnormality of temperature regulation	36	ACADSB	OMIM:610006
HP:0004370	Abnormality of temperature regulation	1716	DGUOK	OMIM:251880
HP:0004370	Abnormality of temperature regulation	37	ACADVL	ORPHA:26793
HP:0004370	Abnormality of temperature regulation	8802	SUCLG1	OMIM:245400
HP:0004370	Abnormality of temperature regulation	8802	SUCLG1	ORPHA:17
HP:0004370	Abnormality of temperature regulation	4914	NTRK1	ORPHA:642
HP:0004370	Abnormality of temperature regulation	4535	MT-ND1	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4536	MT-ND2	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4537	MT-ND3	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4538	MT-ND4	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4567	MT-TL1	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4578	MT-TW	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4577	MT-TV	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4508	MT-ATP6	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4540	MT-ND5	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4541	MT-ND6	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4566	MT-TK	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	7849	PAX8	OMIM:218700
HP:0004370	Abnormality of temperature regulation	7386	UQCRFS1	OMIM:618775
HP:0004370	Abnormality of temperature regulation	54681	P4HTM	OMIM:618493
HP:0004370	Abnormality of temperature regulation	57017	COQ9	OMIM:614654
HP:0004370	Abnormality of temperature regulation	55065	SLC52A1	OMIM:615026
HP:0004370	Abnormality of temperature regulation	221927	BRAT1	OMIM:614498
HP:0004370	Abnormality of temperature regulation	93627	TBCK	ORPHA:488632
HP:0004370	Abnormality of temperature regulation	2555	GABRA2	OMIM:618557
HP:0004370	Abnormality of temperature regulation	4001	LMNB1	ORPHA:99027
HP:0004370	Abnormality of temperature regulation	788	SLC25A20	ORPHA:159
HP:0004370	Abnormality of temperature regulation	56244	BTNL2	ORPHA:797
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:797
HP:0004370	Abnormality of temperature regulation	7253	TSHR	ORPHA:90673
HP:0004370	Abnormality of temperature regulation	7252	TSHB	ORPHA:90674
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:98794
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:98795
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:411511
HP:0004370	Abnormality of temperature regulation	4948	OCA2	ORPHA:98794
HP:0004370	Abnormality of temperature regulation	3939	LDHA	ORPHA:284426
HP:0004370	Abnormality of temperature regulation	1896	EDA	OMIM:305100
HP:0004370	Abnormality of temperature regulation	1896	EDA	OMIM:313500
HP:0004370	Abnormality of temperature regulation	9071	CLDN10	OMIM:617671
HP:0004370	Abnormality of temperature regulation	51360	MBTPS2	ORPHA:2273
HP:0004370	Abnormality of temperature regulation	84876	ORAI1	OMIM:612782
HP:0004370	Abnormality of temperature regulation	81607	NECTIN4	OMIM:613573
HP:0004370	Abnormality of temperature regulation	5604	MAP2K1	OMIM:615279
HP:0004370	Abnormality of temperature regulation	85358	SHANK3	OMIM:606232
HP:0004370	Abnormality of temperature regulation	56983	POGLUT1	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3852	KRT5	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3852	KRT5	ORPHA:79400
HP:0004370	Abnormality of temperature regulation	23509	POFUT1	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	55851	PSENEN	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3861	KRT14	ORPHA:79400
HP:0004370	Abnormality of temperature regulation	3861	KRT14	OMIM:161000
HP:0004370	Abnormality of temperature regulation	3861	KRT14	ORPHA:69087
HP:0004370	Abnormality of temperature regulation	3190	HNRNPK	ORPHA:352665
HP:0004370	Abnormality of temperature regulation	3190	HNRNPK	ORPHA:453504
HP:0004370	Abnormality of temperature regulation	3709	ITPR2	OMIM:106190
HP:0004370	Abnormality of temperature regulation	59344	ALOXE3	OMIM:606545
HP:0004370	Abnormality of temperature regulation	5605	MAP2K2	OMIM:615280
HP:0004370	Abnormality of temperature regulation	10660	LBX1	OMIM:619483
HP:0004370	Abnormality of temperature regulation	4792	NFKBIA	OMIM:612132
HP:0004370	Abnormality of temperature regulation	487	ATP2A1	OMIM:601003
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:597
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:466650
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:423
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:424107
HP:0004370	Abnormality of temperature regulation	6261	RYR1	OMIM:619542
HP:0004370	Abnormality of temperature regulation	6261	RYR1	OMIM:117000
HP:0004370	Abnormality of temperature regulation	6261	RYR1	OMIM:145600
HP:0004370	Abnormality of temperature regulation	779	CACNA1S	OMIM:601887
HP:0004370	Abnormality of temperature regulation	779	CACNA1S	ORPHA:423
HP:0004370	Abnormality of temperature regulation	4621	MYH3	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	4621	MYH3	OMIM:193700
HP:0004370	Abnormality of temperature regulation	259232	NALCN	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	8518	ELP1	ORPHA:1764
HP:0004370	Abnormality of temperature regulation	5236	PGM1	OMIM:614921
HP:0004370	Abnormality of temperature regulation	3339	HSPG2	OMIM:255800
HP:0004370	Abnormality of temperature regulation	3339	HSPG2	ORPHA:800
HP:0004370	Abnormality of temperature regulation	6331	SCN5A	OMIM:272120
HP:0004370	Abnormality of temperature regulation	246329	STAC3	ORPHA:168572
HP:0004370	Abnormality of temperature regulation	246329	STAC3	OMIM:255995
HP:0004370	Abnormality of temperature regulation	274	BIN1	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	64419	MTMR14	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	4618	MYF6	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	1785	DNM2	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	23529	CLCF1	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	9244	CRLF1	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	6329	SCN4A	ORPHA:682
HP:0004370	Abnormality of temperature regulation	83696	TRAPPC9	ORPHA:352530
HP:0004370	Abnormality of temperature regulation	1146	CHRNG	OMIM:253290
HP:0004370	Abnormality of temperature regulation	1144	CHRND	OMIM:253290
HP:0004370	Abnormality of temperature regulation	1134	CHRNA1	OMIM:253290
HP:0004370	Abnormality of temperature regulation	26154	ABCA12	ORPHA:457
HP:0004370	Abnormality of temperature regulation	7189	TRAF6	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	128178	EDARADD	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	126695	KDF1	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	10913	EDAR	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	1185	CLCN6	OMIM:619173
HP:0004370	Abnormality of temperature regulation	403	ARL3	OMIM:618161
HP:0004370	Abnormality of temperature regulation	8567	MADD	OMIM:619004
HP:0004370	Abnormality of temperature regulation	3977	LIFR	OMIM:601559
HP:0004370	Abnormality of temperature regulation	8929	PHOX2B	OMIM:209880
HP:0004370	Abnormality of temperature regulation	84818	IL17RC	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	64581	CLEC7A	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	23765	IL17RA	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	10758	TRAF3IP2	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	112744	IL17F	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276238
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276244
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276241
HP:0004370	Abnormality of temperature regulation	1161	ERCC8	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	2072	ERCC4	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	2074	ERCC6	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	6926	TBX3	ORPHA:3138
HP:0004370	Abnormality of temperature regulation	10312	TCIRG1	ORPHA:667
HP:0004370	Abnormality of temperature regulation	1186	CLCN7	ORPHA:667
HP:0004370	Abnormality of temperature regulation	29887	SNX10	ORPHA:667
HP:0004370	Abnormality of temperature regulation	8600	TNFSF11	ORPHA:667
HP:0004370	Abnormality of temperature regulation	1644	DDC	OMIM:608643
HP:0004370	Abnormality of temperature regulation	1621	DBH	OMIM:223360
HP:0004370	Abnormality of temperature regulation	283446	MYO1H	OMIM:619482
HP:0004370	Abnormality of temperature regulation	440138	ALG11	ORPHA:280071
HP:0004370	Abnormality of temperature regulation	440138	ALG11	OMIM:613661
HP:0004370	Abnormality of temperature regulation	6571	SLC18A2	OMIM:618049
HP:0004370	Abnormality of temperature regulation	55823	VPS11	OMIM:616683
HP:0004370	Abnormality of temperature regulation	2260	FGFR1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2260	FGFR1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	10735	STAG2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	10735	STAG2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	8243	SMC1A	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	54551	MAGEL2	ORPHA:398069
HP:0004370	Abnormality of temperature regulation	54551	MAGEL2	OMIM:176270
HP:0004370	Abnormality of temperature regulation	55164	SHQ1	OMIM:619922
HP:0004370	Abnormality of temperature regulation	23007	PLCH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	8398	PLA2G6	ORPHA:35069
HP:0004370	Abnormality of temperature regulation	60386	SLC25A19	ORPHA:99742
HP:0004370	Abnormality of temperature regulation	7681	MKRN3	OMIM:176270
HP:0004370	Abnormality of temperature regulation	3653	IPW	OMIM:176270
HP:0004370	Abnormality of temperature regulation	791114	PWRN1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	100033413	SNORD116-1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	8924	HERC2	OMIM:176270
HP:0004370	Abnormality of temperature regulation	145624	PWAR1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	23742	NPAP1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	338433	SNORD115-1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	6697	SPR	ORPHA:70594
HP:0004370	Abnormality of temperature regulation	6775	STAT4	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	3560	IL2RB	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	79722	ANKRD55	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	919	CD247	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	3559	IL2RA	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	5771	PTPN2	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	811	CALR	ORPHA:824
HP:0004370	Abnormality of temperature regulation	4352	MPL	ORPHA:824
HP:0004370	Abnormality of temperature regulation	3717	JAK2	ORPHA:824
HP:0004370	Abnormality of temperature regulation	54790	TET2	ORPHA:824
HP:0004370	Abnormality of temperature regulation	4524	MTHFR	ORPHA:563612
HP:0004370	Abnormality of temperature regulation	4524	MTHFR	ORPHA:563609
HP:0004370	Abnormality of temperature regulation	57216	VANGL2	ORPHA:563612
HP:0004370	Abnormality of temperature regulation	57216	VANGL2	ORPHA:563609
HP:0004370	Abnormality of temperature regulation	144811	LACC1	OMIM:618795
HP:0004370	Abnormality of temperature regulation	51095	TRNT1	OMIM:616084
HP:0004370	Abnormality of temperature regulation	1991	ELANE	ORPHA:2686
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	OMIM:617772
HP:0004370	Abnormality of temperature regulation	4210	MEFV	ORPHA:3243
HP:0004370	Abnormality of temperature regulation	667	DST	OMIM:614653
HP:0004370	Abnormality of temperature regulation	3570	IL6R	OMIM:618944
HP:0004370	Abnormality of temperature regulation	57169	ZNFX1	OMIM:619644
HP:0004371	Abnormality of glycosaminoglycan metabolism	138050	HGSNAT	OMIM:252930
HP:0004371	Abnormality of glycosaminoglycan metabolism	2799	GNS	OMIM:252940
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1	ORPHA:578
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1	OMIM:252650
HP:0004371	Abnormality of glycosaminoglycan metabolism	5286	PIK3C2A	ORPHA:557003
HP:0004372	Reduced consciousness/confusion	1374	CPT1A	ORPHA:156
HP:0004372	Reduced consciousness/confusion	1374	CPT1A	OMIM:255120
HP:0004372	Reduced consciousness/confusion	4594	MMUT	ORPHA:289916
HP:0004372	Reduced consciousness/confusion	4594	MMUT	ORPHA:79312
HP:0004372	Reduced consciousness/confusion	4594	MMUT	OMIM:251000
HP:0004372	Reduced consciousness/confusion	4524	MTHFR	ORPHA:395
HP:0004372	Reduced consciousness/confusion	54539	NDUFB11	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	25915	NDUFAF3	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	51103	NDUFAF1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	91942	NDUFAF2	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	51300	TIMMDC1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4716	NDUFB10	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4723	NDUFV1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4723	NDUFV1	OMIM:618225
HP:0004372	Reduced consciousness/confusion	55572	FOXRED1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	284184	NDUFAF8	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	55863	TMEM126B	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4535	MT-ND1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4537	MT-ND3	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4729	NDUFV2	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4694	NDUFA1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4720	NDUFS2	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4720	NDUFS2	OMIM:618228
HP:0004372	Reduced consciousness/confusion	4724	NDUFS4	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4724	NDUFS4	OMIM:252010
HP:0004372	Reduced consciousness/confusion	4726	NDUFS6	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4726	NDUFS6	OMIM:618232
HP:0004372	Reduced consciousness/confusion	4728	NDUFS8	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4722	NDUFS3	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	79133	NDUFAF5	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	126328	NDUFA11	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4709	NDUFB3	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	80224	NUBPL	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	29078	NDUFAF4	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	374291	NDUFS7	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	374291	NDUFS7	OMIM:618224
HP:0004372	Reduced consciousness/confusion	4700	NDUFA6	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4536	MT-ND2	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4719	NDUFS1	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4719	NDUFS1	OMIM:618226
HP:0004372	Reduced consciousness/confusion	4715	NDUFB9	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	229	ALDOB	OMIM:229600
HP:0004372	Reduced consciousness/confusion	229	ALDOB	ORPHA:469
HP:0004372	Reduced consciousness/confusion	5009	OTC	OMIM:311250
HP:0004372	Reduced consciousness/confusion	54820	NDE1	ORPHA:2177
HP:0004372	Reduced consciousness/confusion	148738	HJV	OMIM:602390
HP:0004372	Reduced consciousness/confusion	148738	HJV	ORPHA:79230
HP:0004372	Reduced consciousness/confusion	2731	GLDC	OMIM:605899
HP:0004372	Reduced consciousness/confusion	275	AMT	OMIM:605899
HP:0004372	Reduced consciousness/confusion	79783	SUGCT	ORPHA:35706
HP:0004372	Reduced consciousness/confusion	4552	MTRR	OMIM:236270
HP:0004372	Reduced consciousness/confusion	4552	MTRR	ORPHA:2169
HP:0004372	Reduced consciousness/confusion	7849	PAX8	OMIM:218700
HP:0004372	Reduced consciousness/confusion	1376	CPT2	OMIM:600649
HP:0004372	Reduced consciousness/confusion	1376	CPT2	OMIM:608836
HP:0004372	Reduced consciousness/confusion	55788	LMBRD1	OMIM:277380
HP:0004372	Reduced consciousness/confusion	55788	LMBRD1	ORPHA:79284
HP:0004372	Reduced consciousness/confusion	3141	HLCS	OMIM:253270
HP:0004372	Reduced consciousness/confusion	3141	HLCS	ORPHA:79242
HP:0004372	Reduced consciousness/confusion	7253	TSHR	ORPHA:90673
HP:0004372	Reduced consciousness/confusion	7252	TSHB	ORPHA:90674
HP:0004372	Reduced consciousness/confusion	1738	DLD	ORPHA:2394
HP:0004372	Reduced consciousness/confusion	1738	DLD	OMIM:246900
HP:0004372	Reduced consciousness/confusion	686	BTD	OMIM:253260
HP:0004372	Reduced consciousness/confusion	686	BTD	ORPHA:79241
HP:0004372	Reduced consciousness/confusion	36	ACADSB	OMIM:610006
HP:0004372	Reduced consciousness/confusion	64087	MCCC2	OMIM:210210
HP:0004372	Reduced consciousness/confusion	79087	ALG12	OMIM:607143
HP:0004372	Reduced consciousness/confusion	5095	PCCA	OMIM:606054
HP:0004372	Reduced consciousness/confusion	5096	PCCB	OMIM:606054
HP:0004372	Reduced consciousness/confusion	9377	COX5A	OMIM:619064
HP:0004372	Reduced consciousness/confusion	23400	ATP13A2	ORPHA:306674
HP:0004372	Reduced consciousness/confusion	388962	BOLA3	OMIM:614299
HP:0004372	Reduced consciousness/confusion	55065	SLC52A1	OMIM:615026
HP:0004372	Reduced consciousness/confusion	1591	CYP24A1	OMIM:143880
HP:0004372	Reduced consciousness/confusion	28514	DLL1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	28514	DLL1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	28514	DLL1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	28514	DLL1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	2253	FGF8	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	2253	FGF8	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	2253	FGF8	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	2253	FGF8	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	6496	SIX3	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	6496	SIX3	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	6496	SIX3	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	6496	SIX3	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	7050	TGIF1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	7050	TGIF1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	7050	TGIF1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	7050	TGIF1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	4838	NODAL	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	4838	NODAL	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	4838	NODAL	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	4838	NODAL	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	6469	SHH	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	6469	SHH	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	6469	SHH	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	6469	SHH	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	7546	ZIC2	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	7546	ZIC2	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	7546	ZIC2	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	7546	ZIC2	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	6491	STIL	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	6491	STIL	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	6491	STIL	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	6491	STIL	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	2619	GAS1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	2619	GAS1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	2619	GAS1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	2619	GAS1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	84976	DISP1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	84976	DISP1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	84976	DISP1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	84976	DISP1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	2736	GLI2	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	2736	GLI2	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	2736	GLI2	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	2736	GLI2	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	8928	FOXH1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	8928	FOXH1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	8928	FOXH1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	8928	FOXH1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	5727	PTCH1	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	5727	PTCH1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	5727	PTCH1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	5727	PTCH1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	50937	CDON	ORPHA:93926
HP:0004372	Reduced consciousness/confusion	50937	CDON	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	50937	CDON	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	50937	CDON	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	51021	MRPS16	OMIM:610498
HP:0004372	Reduced consciousness/confusion	56922	MCCC1	OMIM:210200
HP:0004372	Reduced consciousness/confusion	2260	FGFR1	ORPHA:93924
HP:0004372	Reduced consciousness/confusion	2260	FGFR1	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	23007	PLCH1	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	10735	STAG2	ORPHA:93925
HP:0004372	Reduced consciousness/confusion	10735	STAG2	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	5826	ABCD4	OMIM:614857
HP:0004372	Reduced consciousness/confusion	788	SLC25A20	ORPHA:159
HP:0004372	Reduced consciousness/confusion	788	SLC25A20	OMIM:212138
HP:0004372	Reduced consciousness/confusion	9056	SLC7A7	ORPHA:470
HP:0004372	Reduced consciousness/confusion	51594	NBAS	OMIM:616483
HP:0004372	Reduced consciousness/confusion	6521	SLC4A1	OMIM:611590
HP:0004372	Reduced consciousness/confusion	1629	DBT	OMIM:248600
HP:0004372	Reduced consciousness/confusion	593	BCKDHA	OMIM:248600
HP:0004372	Reduced consciousness/confusion	594	BCKDHB	OMIM:248600
HP:0004372	Reduced consciousness/confusion	5626	PROP1	ORPHA:226307
HP:0004372	Reduced consciousness/confusion	89884	LHX4	ORPHA:226307
HP:0004372	Reduced consciousness/confusion	8022	LHX3	ORPHA:226307
HP:0004372	Reduced consciousness/confusion	5449	POU1F1	ORPHA:226307
HP:0004372	Reduced consciousness/confusion	8820	HESX1	ORPHA:226307
HP:0004372	Reduced consciousness/confusion	4519	MT-CYB	ORPHA:137675
HP:0004372	Reduced consciousness/confusion	5828	PEX2	OMIM:614866
HP:0004372	Reduced consciousness/confusion	2643	GCH1	OMIM:233910
HP:0004372	Reduced consciousness/confusion	90624	LYRM7	OMIM:615838
HP:0004372	Reduced consciousness/confusion	80704	SLC19A3	OMIM:607483
HP:0004372	Reduced consciousness/confusion	166785	MMAA	OMIM:251100
HP:0004372	Reduced consciousness/confusion	50506	DUOX2	ORPHA:226316
HP:0004372	Reduced consciousness/confusion	50506	DUOX2	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	6506	SLC1A2	OMIM:617105
HP:0004372	Reduced consciousness/confusion	29110	TBK1	OMIM:617900
HP:0004372	Reduced consciousness/confusion	34	ACADM	ORPHA:42
HP:0004372	Reduced consciousness/confusion	34	ACADM	OMIM:201450
HP:0004372	Reduced consciousness/confusion	55739	NAXD	OMIM:618321
HP:0004372	Reduced consciousness/confusion	84833	ATP5MK	OMIM:618683
HP:0004372	Reduced consciousness/confusion	162417	NAGS	ORPHA:927
HP:0004372	Reduced consciousness/confusion	162417	NAGS	OMIM:237310
HP:0004372	Reduced consciousness/confusion	654	BMP6	ORPHA:465508
HP:0004372	Reduced consciousness/confusion	3077	HFE	ORPHA:465508
HP:0004372	Reduced consciousness/confusion	10165	SLC25A13	ORPHA:247585
HP:0004372	Reduced consciousness/confusion	6261	RYR1	ORPHA:324581
HP:0004372	Reduced consciousness/confusion	6261	RYR1	ORPHA:466650
HP:0004372	Reduced consciousness/confusion	445	ASS1	OMIM:215700
HP:0004372	Reduced consciousness/confusion	7201	TRHR	ORPHA:99832
HP:0004372	Reduced consciousness/confusion	7201	TRHR	OMIM:618573
HP:0004372	Reduced consciousness/confusion	6528	SLC5A5	OMIM:274400
HP:0004372	Reduced consciousness/confusion	6528	SLC5A5	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	1967	EIF2B1	OMIM:603896
HP:0004372	Reduced consciousness/confusion	6135	RPL11	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6138	RPL15	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6229	RPS24	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6125	RPL5	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6204	RPS10	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6224	RPS20	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6165	RPL35A	ORPHA:124
HP:0004372	Reduced consciousness/confusion	2623	GATA1	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6223	RPS19	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6232	RPS27	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6231	RPS26	ORPHA:124
HP:0004372	Reduced consciousness/confusion	11224	RPL35	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6160	RPL31	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6218	RPS17	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6201	RPS7	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6155	RPL27	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6154	RPL26	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6210	RPS15A	ORPHA:124
HP:0004372	Reduced consciousness/confusion	90121	TSR2	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6141	RPL18	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6235	RPS29	ORPHA:124
HP:0004372	Reduced consciousness/confusion	6234	RPS28	ORPHA:124
HP:0004372	Reduced consciousness/confusion	51816	ADA2	ORPHA:124
HP:0004372	Reduced consciousness/confusion	27247	NFU1	OMIM:605711
HP:0004372	Reduced consciousness/confusion	6927	HNF1A	ORPHA:324575
HP:0004372	Reduced consciousness/confusion	51067	YARS2	OMIM:613561
HP:0004372	Reduced consciousness/confusion	7351	UCP2	ORPHA:276556
HP:0004372	Reduced consciousness/confusion	79751	SLC25A22	ORPHA:1935
HP:0004372	Reduced consciousness/confusion	150094	SIK1	ORPHA:1935
HP:0004372	Reduced consciousness/confusion	8260	NAA10	ORPHA:276432
HP:0004372	Reduced consciousness/confusion	6513	SLC2A1	ORPHA:71277
HP:0004372	Reduced consciousness/confusion	6513	SLC2A1	OMIM:606777
HP:0004372	Reduced consciousness/confusion	291	SLC25A4	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	5428	POLG	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	56652	TWNK	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	11232	POLG2	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	50484	RRM2B	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	3155	HMGCL	ORPHA:20
HP:0004372	Reduced consciousness/confusion	5076	PAX2	ORPHA:97362
HP:0004372	Reduced consciousness/confusion	5087	PBX1	ORPHA:97362
HP:0004372	Reduced consciousness/confusion	763	CA5A	OMIM:615751
HP:0004372	Reduced consciousness/confusion	6948	TCN2	OMIM:275350
HP:0004372	Reduced consciousness/confusion	3875	KRT18	OMIM:215600
HP:0004372	Reduced consciousness/confusion	9256	TSPOAP1	ORPHA:101150
HP:0004372	Reduced consciousness/confusion	7054	TH	ORPHA:101150
HP:0004372	Reduced consciousness/confusion	27249	MMADHC	OMIM:277410
HP:0004372	Reduced consciousness/confusion	27249	MMADHC	ORPHA:79283
HP:0004372	Reduced consciousness/confusion	5160	PDHA1	OMIM:312170
HP:0004372	Reduced consciousness/confusion	1806	DPYD	OMIM:274270
HP:0004372	Reduced consciousness/confusion	6492	SIM1	ORPHA:398079
HP:0004372	Reduced consciousness/confusion	10560	SLC19A2	ORPHA:49827
HP:0004372	Reduced consciousness/confusion	1644	DDC	OMIM:608643
HP:0004372	Reduced consciousness/confusion	2561	GABRB2	OMIM:617829
HP:0004372	Reduced consciousness/confusion	443	ASPA	ORPHA:314911
HP:0004372	Reduced consciousness/confusion	6833	ABCC8	ORPHA:276575
HP:0004372	Reduced consciousness/confusion	2710	GK	OMIM:307030
HP:0004372	Reduced consciousness/confusion	10166	SLC25A15	ORPHA:415
HP:0004372	Reduced consciousness/confusion	10166	SLC25A15	OMIM:238970
HP:0004372	Reduced consciousness/confusion	2592	GALT	ORPHA:79239
HP:0004372	Reduced consciousness/confusion	3767	KCNJ11	ORPHA:276580
HP:0004372	Reduced consciousness/confusion	513	ATP5F1D	OMIM:618120
HP:0004372	Reduced consciousness/confusion	7019	TFAM	OMIM:617156
HP:0004372	Reduced consciousness/confusion	11274	USP18	OMIM:617397
HP:0004372	Reduced consciousness/confusion	405753	DUOXA2	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	7038	TG	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	7173	TPO	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	389434	IYD	ORPHA:95716
HP:0004372	Reduced consciousness/confusion	54551	MAGEL2	ORPHA:398069
HP:0004372	Reduced consciousness/confusion	5277	PIGA	ORPHA:447
HP:0004372	Reduced consciousness/confusion	3712	IVD	OMIM:243500
HP:0004372	Reduced consciousness/confusion	3172	HNF4A	ORPHA:263455
HP:0004372	Reduced consciousness/confusion	55630	SLC39A4	OMIM:201100
HP:0004372	Reduced consciousness/confusion	7098	TLR3	OMIM:613002
HP:0004372	Reduced consciousness/confusion	57817	HAMP	ORPHA:79230
HP:0004372	Reduced consciousness/confusion	326625	MMAB	OMIM:251110
HP:0004372	Reduced consciousness/confusion	9997	SCO2	OMIM:604377
HP:0004372	Reduced consciousness/confusion	37	ACADVL	OMIM:201475
HP:0004372	Reduced consciousness/confusion	37	ACADVL	ORPHA:26793
HP:0004372	Reduced consciousness/confusion	4576	MT-TT	ORPHA:254857
HP:0004372	Reduced consciousness/confusion	35	ACADS	OMIM:201470
HP:0004372	Reduced consciousness/confusion	35	ACADS	ORPHA:26792
HP:0004372	Reduced consciousness/confusion	435	ASL	OMIM:207900
HP:0004372	Reduced consciousness/confusion	54796	BNC2	ORPHA:93110
HP:0004372	Reduced consciousness/confusion	3032	HADHB	ORPHA:746
HP:0004372	Reduced consciousness/confusion	3030	HADHA	ORPHA:746
HP:0004372	Reduced consciousness/confusion	3030	HADHA	OMIM:609015
HP:0004372	Reduced consciousness/confusion	4221	MEN1	ORPHA:97279
HP:0004372	Reduced consciousness/confusion	4221	MEN1	ORPHA:652
HP:0004372	Reduced consciousness/confusion	7528	YY1	ORPHA:97279
HP:0004372	Reduced consciousness/confusion	60558	GUF1	OMIM:617065
HP:0004372	Reduced consciousness/confusion	2998	GYS2	ORPHA:2089
HP:0004372	Reduced consciousness/confusion	57038	RARS2	OMIM:611523
HP:0004372	Reduced consciousness/confusion	3033	HADH	ORPHA:71212
HP:0004372	Reduced consciousness/confusion	10551	AGR2	OMIM:620233
HP:0004372	Reduced consciousness/confusion	1027	CDKN1B	ORPHA:652
HP:0004372	Reduced consciousness/confusion	1026	CDKN1A	ORPHA:652
HP:0004372	Reduced consciousness/confusion	1030	CDKN2B	ORPHA:652
HP:0004372	Reduced consciousness/confusion	1031	CDKN2C	ORPHA:652
HP:0004372	Reduced consciousness/confusion	2203	FBP1	OMIM:229700
HP:0004372	Reduced consciousness/confusion	551	AVP	ORPHA:30925
HP:0004372	Reduced consciousness/confusion	8243	SMC1A	ORPHA:220386
HP:0004372	Reduced consciousness/confusion	60386	SLC25A19	OMIM:613710
HP:0004372	Reduced consciousness/confusion	25974	MMACHC	ORPHA:79282
HP:0004372	Reduced consciousness/confusion	25974	MMACHC	OMIM:277400
HP:0004372	Reduced consciousness/confusion	55005	RMND1	OMIM:614922
HP:0004372	Reduced consciousness/confusion	1807	DPYS	OMIM:222748
HP:0004372	Reduced consciousness/confusion	18	ABAT	OMIM:613163
HP:0004372	Reduced consciousness/confusion	9054	NFS1	OMIM:619386
HP:0004372	Reduced consciousness/confusion	1373	CPS1	OMIM:237300
HP:0004372	Reduced consciousness/confusion	26275	HIBCH	OMIM:250620
HP:0004372	Reduced consciousness/confusion	5052	PRDX1	OMIM:277400
HP:0004372	Reduced consciousness/confusion	6584	SLC22A5	OMIM:212140
HP:0004372	Reduced consciousness/confusion	51728	POLR3K	OMIM:619310
HP:0004372	Reduced consciousness/confusion	5551	PRF1	ORPHA:540
HP:0004372	Reduced consciousness/confusion	5551	PRF1	OMIM:603553
HP:0004372	Reduced consciousness/confusion	8676	STX11	ORPHA:540
HP:0004372	Reduced consciousness/confusion	201294	UNC13D	ORPHA:540
HP:0004372	Reduced consciousness/confusion	6813	STXBP2	ORPHA:540
HP:0004372	Reduced consciousness/confusion	4695	NDUFA2	OMIM:618235
HP:0004372	Reduced consciousness/confusion	549	AUH	ORPHA:67046
HP:0004372	Reduced consciousness/confusion	6774	STAT3	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	2645	GCK	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	2645	GCK	ORPHA:79299
HP:0004372	Reduced consciousness/confusion	3651	PDX1	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	3630	INS	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	3643	INSR	ORPHA:263458
HP:0004372	Reduced consciousness/confusion	5903	RANBP2	ORPHA:88619
HP:0004372	Reduced consciousness/confusion	5903	RANBP2	OMIM:608033
HP:0004372	Reduced consciousness/confusion	58472	SQOR	OMIM:619221
HP:0004372	Reduced consciousness/confusion	5498	PPOX	ORPHA:79473
HP:0004372	Reduced consciousness/confusion	4158	MC2R	OMIM:202200
HP:0004372	Reduced consciousness/confusion	10068	IL18BP	OMIM:618549
HP:0004372	Reduced consciousness/confusion	54902	TTC19	OMIM:615157
HP:0004372	Reduced consciousness/confusion	128240	NAXE	OMIM:617186
HP:0004372	Reduced consciousness/confusion	540	ATP7B	OMIM:277900
HP:0004372	Reduced consciousness/confusion	6663	SOX10	OMIM:609136
HP:0004372	Reduced consciousness/confusion	1537	CYC1	OMIM:615453
HP:0004372	Reduced consciousness/confusion	8942	KYNU	ORPHA:79155
HP:0004372	Reduced consciousness/confusion	3075	CFH	OMIM:235400
HP:0004372	Reduced consciousness/confusion	3078	CFHR1	OMIM:235400
HP:0004372	Reduced consciousness/confusion	10878	CFHR3	OMIM:235400
HP:0004372	Reduced consciousness/confusion	4927	NUP88	ORPHA:994
HP:0004372	Reduced consciousness/confusion	7846	TUBA1A	ORPHA:994
HP:0004372	Reduced consciousness/confusion	4654	MYOD1	ORPHA:994
HP:0004372	Reduced consciousness/confusion	4593	MUSK	ORPHA:994
HP:0004372	Reduced consciousness/confusion	5913	RAPSN	ORPHA:994
HP:0004372	Reduced consciousness/confusion	6572	SLC18A3	ORPHA:994
HP:0004372	Reduced consciousness/confusion	285489	DOK7	ORPHA:994
HP:0004372	Reduced consciousness/confusion	3064	HTT	ORPHA:399
HP:0004372	Reduced consciousness/confusion	6515	SLC2A3	ORPHA:399
HP:0004372	Reduced consciousness/confusion	8314	BAP1	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	4771	NF2	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	6598	SMARCB1	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	5155	PDGFB	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	84231	TRAF7	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	6608	SMO	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	207	AKT1	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	5290	PIK3CA	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	7015	TERT	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	51684	SUFU	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	6605	SMARCE1	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	84334	COA8	ORPHA:436271
HP:0004372	Reduced consciousness/confusion	2705	GJB1	ORPHA:101075
HP:0004372	Reduced consciousness/confusion	5631	PRPS1	ORPHA:99014
HP:0004372	Reduced consciousness/confusion	3594	IL12RB1	ORPHA:186
HP:0004372	Reduced consciousness/confusion	23534	TNPO3	ORPHA:186
HP:0004372	Reduced consciousness/confusion	6689	SPIB	ORPHA:186
HP:0004372	Reduced consciousness/confusion	5450	POU2AF1	ORPHA:186
HP:0004372	Reduced consciousness/confusion	9966	TNFSF15	ORPHA:186
HP:0004372	Reduced consciousness/confusion	79258	MMEL1	ORPHA:186
HP:0004372	Reduced consciousness/confusion	3663	IRF5	ORPHA:186
HP:0004372	Reduced consciousness/confusion	22891	ZNF365	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	22891	ZNF365	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	3123	HLA-DRB1	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	3123	HLA-DRB1	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	57465	TBC1D24	ORPHA:352596
HP:0004372	Reduced consciousness/confusion	1786	DNMT1	OMIM:614116
HP:0004372	Reduced consciousness/confusion	1786	DNMT1	OMIM:604121
HP:0004372	Reduced consciousness/confusion	1717	DHCR7	ORPHA:818
HP:0004372	Reduced consciousness/confusion	1760	DMPK	OMIM:160900
HP:0004372	Reduced consciousness/confusion	29954	POMT2	OMIM:236670
HP:0004372	Reduced consciousness/confusion	9215	LARGE1	OMIM:236670
HP:0004372	Reduced consciousness/confusion	79147	FKRP	OMIM:236670
HP:0004372	Reduced consciousness/confusion	10585	POMT1	OMIM:236670
HP:0004372	Reduced consciousness/confusion	2218	FKTN	OMIM:236670
HP:0004372	Reduced consciousness/confusion	38	ACAT1	ORPHA:134
HP:0004372	Reduced consciousness/confusion	5805	PTS	OMIM:261640
HP:0004372	Reduced consciousness/confusion	1512	CTSH	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	5032	P2RY11	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	4340	MOG	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	4340	MOG	OMIM:614250
HP:0004372	Reduced consciousness/confusion	7292	TNFSF4	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	55870	ASH1L	OMIM:617796
HP:0004372	Reduced consciousness/confusion	1188	CLCNKB	ORPHA:358
HP:0004372	Reduced consciousness/confusion	6559	SLC12A3	ORPHA:358
HP:0004372	Reduced consciousness/confusion	1499	CTNNB1	ORPHA:54595
HP:0004372	Reduced consciousness/confusion	673	BRAF	ORPHA:54595
HP:0004372	Reduced consciousness/confusion	7187	TRAF3	ORPHA:1930
HP:0004372	Reduced consciousness/confusion	81622	UNC93B1	ORPHA:1930
HP:0004372	Reduced consciousness/confusion	148022	TICAM1	ORPHA:1930
HP:0004372	Reduced consciousness/confusion	5621	PRNP	ORPHA:282166
HP:0004372	Reduced consciousness/confusion	5621	PRNP	OMIM:123400
HP:0004372	Reduced consciousness/confusion	8029	CUBN	OMIM:261100
HP:0004372	Reduced consciousness/confusion	8659	ALDH4A1	ORPHA:79101
HP:0004372	Reduced consciousness/confusion	378884	NHLRC1	ORPHA:501
HP:0004372	Reduced consciousness/confusion	7957	EPM2A	ORPHA:501
HP:0004372	Reduced consciousness/confusion	4125	MAN2B1	ORPHA:309282
HP:0004372	Reduced consciousness/confusion	4125	MAN2B1	ORPHA:309288
HP:0004372	Reduced consciousness/confusion	8722	CTSF	OMIM:615362
HP:0004372	Reduced consciousness/confusion	1135	CHRNA2	OMIM:610353
HP:0004372	Reduced consciousness/confusion	2068	ERCC2	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	2073	ERCC5	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	2072	ERCC4	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	2071	ERCC3	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	11093	ADAMTS13	OMIM:274150
HP:0004372	Reduced consciousness/confusion	11128	POLR3A	ORPHA:3455
HP:0004372	Reduced consciousness/confusion	4854	NOTCH3	ORPHA:136
HP:0004372	Reduced consciousness/confusion	210	ALAD	ORPHA:100924
HP:0004372	Reduced consciousness/confusion	215	ABCD1	ORPHA:139396
HP:0004372	Reduced consciousness/confusion	5663	PSEN1	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	5664	PSEN2	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	10452	TOMM40	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	351	APP	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	54209	TREM2	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	10347	ABCA7	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	6653	SORL1	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	2778	GNAS	ORPHA:79443
HP:0004372	Reduced consciousness/confusion	2778	GNAS	ORPHA:79444
HP:0004372	Reduced consciousness/confusion	1371	CPOX	OMIM:121300
HP:0004372	Reduced consciousness/confusion	3119	HLA-DQB1	OMIM:123400
HP:0004372	Reduced consciousness/confusion	773	CACNA1A	ORPHA:569
HP:0004372	Reduced consciousness/confusion	773	CACNA1A	OMIM:141500
HP:0004372	Reduced consciousness/confusion	112476	PRRT2	ORPHA:569
HP:0004372	Reduced consciousness/confusion	6323	SCN1A	ORPHA:569
HP:0004372	Reduced consciousness/confusion	477	ATP1A2	ORPHA:569
HP:0004372	Reduced consciousness/confusion	477	ATP1A2	OMIM:602481
HP:0004372	Reduced consciousness/confusion	7276	TTR	OMIM:105210
HP:0004372	Reduced consciousness/confusion	7388	UQCRH	OMIM:620137
HP:0004372	Reduced consciousness/confusion	3145	HMBS	ORPHA:79276
HP:0004372	Reduced consciousness/confusion	6908	TBP	OMIM:607136
HP:0004372	Reduced consciousness/confusion	56978	PRDM8	ORPHA:324290
HP:0004372	Reduced consciousness/confusion	149233	IL23R	ORPHA:117
HP:0004372	Reduced consciousness/confusion	6775	STAT4	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3586	IL10	ORPHA:117
HP:0004372	Reduced consciousness/confusion	4210	MEFV	ORPHA:117
HP:0004372	Reduced consciousness/confusion	1230	CCR1	ORPHA:117
HP:0004372	Reduced consciousness/confusion	355	FAS	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3592	IL12A	ORPHA:117
HP:0004372	Reduced consciousness/confusion	101928376	IL12A-AS1	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3106	HLA-B	ORPHA:117
HP:0004372	Reduced consciousness/confusion	7099	TLR4	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3459	IFNGR1	ORPHA:117
HP:0004372	Reduced consciousness/confusion	720	C4A	ORPHA:117
HP:0004372	Reduced consciousness/confusion	337867	UBAC2	ORPHA:117
HP:0004372	Reduced consciousness/confusion	51752	ERAP1	ORPHA:117
HP:0004372	Reduced consciousness/confusion	8302	KLRC4	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3158	HMGCS2	OMIM:605911
HP:0004372	Reduced consciousness/confusion	56246	MRAP	ORPHA:361
HP:0004372	Reduced consciousness/confusion	6770	STAR	ORPHA:361
HP:0004372	Reduced consciousness/confusion	23530	NNT	ORPHA:361
HP:0004372	Reduced consciousness/confusion	23530	NNT	OMIM:614736
HP:0004372	Reduced consciousness/confusion	10587	TXNRD2	ORPHA:361
HP:0004372	Reduced consciousness/confusion	4791	NFKB2	ORPHA:293978
HP:0004372	Reduced consciousness/confusion	208	AKT2	ORPHA:293964
HP:0004372	Reduced consciousness/confusion	2746	GLUD1	OMIM:606762
HP:0004372	Reduced consciousness/confusion	2108	ETFA	OMIM:231680
HP:0004372	Reduced consciousness/confusion	2109	ETFB	OMIM:231680
HP:0004372	Reduced consciousness/confusion	2110	ETFDH	OMIM:231680
HP:0004372	Reduced consciousness/confusion	64849	SLC13A3	OMIM:618384
HP:0004372	Reduced consciousness/confusion	9326	ZNHIT3	ORPHA:2836
HP:0004372	Reduced consciousness/confusion	547	KIF1A	ORPHA:2836
HP:0004372	Reduced consciousness/confusion	9361	LONP1	ORPHA:79243
HP:0004372	Reduced consciousness/confusion	6697	SPR	ORPHA:70594
HP:0004372	Reduced consciousness/confusion	7067	THRA	OMIM:614450
HP:0004372	Reduced consciousness/confusion	54872	PIGG	ORPHA:488635
HP:0004372	Reduced consciousness/confusion	2670	GFAP	OMIM:203450
HP:0004372	Reduced consciousness/confusion	6329	SCN4A	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1134	CHRNA1	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	4038	LRP4	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1305	COL13A1	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1140	CHRNB1	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1144	CHRND	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1145	CHRNE	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	375790	AGRN	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	221264	AK9	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	3060	HCRT	OMIM:161400
HP:0004372	Reduced consciousness/confusion	4558	MT-TF	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4572	MT-TQ	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4512	MT-CO1	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4513	MT-CO2	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4514	MT-CO3	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4578	MT-TW	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4540	MT-ND5	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4541	MT-ND6	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4538	MT-ND4	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4567	MT-TL1	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4574	MT-TS1	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4575	MT-TS2	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4564	MT-TH	ORPHA:550
HP:0004372	Reduced consciousness/confusion	2767	GNA11	ORPHA:428
HP:0004372	Reduced consciousness/confusion	846	CASR	ORPHA:428
HP:0004372	Reduced consciousness/confusion	6696	SPP1	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	3654	IRAK1	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	3593	IL12B	ORPHA:3287
HP:0004372	Reduced consciousness/confusion	6945	MLX	ORPHA:3287
HP:0004372	Reduced consciousness/confusion	4615	MYD88	ORPHA:33226
HP:0004372	Reduced consciousness/confusion	1281	COL3A1	ORPHA:286
HP:0004372	Reduced consciousness/confusion	478	ATP1A3	OMIM:601338
HP:0004372	Reduced consciousness/confusion	2629	GBA1	OMIM:127750
HP:0004372	Reduced consciousness/confusion	6622	SNCA	OMIM:127750
HP:0004372	Reduced consciousness/confusion	6620	SNCB	OMIM:127750
HP:0004372	Reduced consciousness/confusion	4714	NDUFB8	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	6834	SURF1	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	2639	GCDH	ORPHA:25
HP:0004372	Reduced consciousness/confusion	100151683	RNU4ATAC	OMIM:210710
HP:0004372	Reduced consciousness/confusion	3753	KCNE1	ORPHA:90647
HP:0004372	Reduced consciousness/confusion	3784	KCNQ1	ORPHA:90647
HP:0004372	Reduced consciousness/confusion	132158	GLYCTK	ORPHA:941
HP:0004372	Reduced consciousness/confusion	51733	UPB1	OMIM:613161
HP:0004372	Reduced consciousness/confusion	135	ADORA2A	ORPHA:363549
HP:0004372	Reduced consciousness/confusion	4665	NAB2	ORPHA:2126
HP:0004372	Reduced consciousness/confusion	6778	STAT6	ORPHA:2126
HP:0004372	Reduced consciousness/confusion	100996717	NOTCH2NLC	OMIM:603472
HP:0004372	Reduced consciousness/confusion	9896	FIG4	ORPHA:208441
HP:0004372	Reduced consciousness/confusion	9896	FIG4	OMIM:612691
HP:0004372	Reduced consciousness/confusion	4556	MT-TE	ORPHA:2596
HP:0004372	Reduced consciousness/confusion	410	ARSA	ORPHA:309271
HP:0004372	Reduced consciousness/confusion	410	ARSA	ORPHA:309263
HP:0004372	Reduced consciousness/confusion	410	ARSA	ORPHA:309256
HP:0004372	Reduced consciousness/confusion	5660	PSAP	ORPHA:309271
HP:0004372	Reduced consciousness/confusion	5660	PSAP	ORPHA:309263
HP:0004372	Reduced consciousness/confusion	5660	PSAP	ORPHA:309256
HP:0004372	Reduced consciousness/confusion	5660	PSAP	OMIM:611722
HP:0004372	Reduced consciousness/confusion	80856	LNPK	OMIM:618090
HP:0004372	Reduced consciousness/confusion	122961	ISCA2	OMIM:616370
HP:0004372	Reduced consciousness/confusion	79989	IFT56	OMIM:619534
HP:0004372	Reduced consciousness/confusion	16	AARS1	OMIM:619661
HP:0004372	Reduced consciousness/confusion	55164	SHQ1	OMIM:619922
HP:0004372	Reduced consciousness/confusion	8398	PLA2G6	ORPHA:35069
HP:0004372	Reduced consciousness/confusion	5354	PLP1	ORPHA:280229
HP:0004373	Focal dystonia	25792	CIZ1	ORPHA:420492
HP:0004373	Focal dystonia	58	ACTA1	ORPHA:97240
HP:0004373	Focal dystonia	10749	KIF1C	ORPHA:397946
HP:0004373	Focal dystonia	10749	KIF1C	OMIM:611302
HP:0004373	Focal dystonia	2643	GCH1	OMIM:128230
HP:0004373	Focal dystonia	2643	GCH1	ORPHA:98808
HP:0004373	Focal dystonia	1291	COL6A1	OMIM:254090
HP:0004373	Focal dystonia	1291	COL6A1	ORPHA:75840
HP:0004373	Focal dystonia	1291	COL6A1	OMIM:158810
HP:0004373	Focal dystonia	1292	COL6A2	OMIM:254090
HP:0004373	Focal dystonia	1292	COL6A2	ORPHA:75840
HP:0004373	Focal dystonia	1292	COL6A2	OMIM:158810
HP:0004373	Focal dystonia	1293	COL6A3	OMIM:254090
HP:0004373	Focal dystonia	1293	COL6A3	ORPHA:75840
HP:0004373	Focal dystonia	1293	COL6A3	OMIM:616411
HP:0004373	Focal dystonia	1293	COL6A3	OMIM:158810
HP:0004373	Focal dystonia	2774	GNAL	OMIM:615073
HP:0004373	Focal dystonia	2774	GNAL	ORPHA:329466
HP:0004373	Focal dystonia	1356	CP	OMIM:604290
HP:0004373	Focal dystonia	1356	CP	ORPHA:48818
HP:0004373	Focal dystonia	478	ATP1A3	OMIM:128235
HP:0004373	Focal dystonia	478	ATP1A3	ORPHA:71517
HP:0004373	Focal dystonia	1303	COL12A1	ORPHA:75840
HP:0004373	Focal dystonia	3208	HPCA	ORPHA:99657
HP:0004373	Focal dystonia	3208	HPCA	OMIM:224500
HP:0004373	Focal dystonia	5575	PRKAR1B	OMIM:619680
HP:0004373	Focal dystonia	55187	VPS13D	OMIM:607317
HP:0004373	Focal dystonia	91754	NEK9	OMIM:617022
HP:0004373	Focal dystonia	81790	RNF170	OMIM:619686
HP:0004373	Focal dystonia	387119	CEP85L	OMIM:618873
HP:0004373	Focal dystonia	3781	KCNN2	OMIM:619724
HP:0004373	Focal dystonia	1644	DDC	OMIM:608643
HP:0004373	Focal dystonia	64221	ROBO3	OMIM:607313
HP:0004373	Focal dystonia	63982	ANO3	ORPHA:420485
HP:0004373	Focal dystonia	63982	ANO3	OMIM:615034
HP:0004373	Focal dystonia	343641	TGM6	OMIM:613908
HP:0004373	Focal dystonia	343641	TGM6	ORPHA:276193
HP:0004373	Focal dystonia	8575	PRKRA	ORPHA:210571
HP:0004373	Focal dystonia	64601	VPS16	OMIM:619291
HP:0004373	Focal dystonia	25953	PNKD	OMIM:118800
HP:0004373	Focal dystonia	25953	PNKD	ORPHA:98810
HP:0004373	Focal dystonia	116228	COX20	OMIM:619054
HP:0004373	Focal dystonia	8260	NAA10	OMIM:300855
HP:0004373	Focal dystonia	8260	NAA10	ORPHA:276432
HP:0004373	Focal dystonia	10381	TUBB3	ORPHA:300570
HP:0004373	Focal dystonia	54834	GDAP2	OMIM:618369
HP:0004373	Focal dystonia	23400	ATP13A2	OMIM:606693
HP:0004373	Focal dystonia	7703	PCGF2	OMIM:618371
HP:0004373	Focal dystonia	773	CACNA1A	ORPHA:97
HP:0004373	Focal dystonia	773	CACNA1A	ORPHA:71518
HP:0004373	Focal dystonia	1813	DRD2	ORPHA:36899
HP:0004373	Focal dystonia	8910	SGCE	ORPHA:36899
HP:0004373	Focal dystonia	8910	SGCE	OMIM:159900
HP:0004373	Focal dystonia	79734	KCTD17	ORPHA:36899
HP:0004373	Focal dystonia	79734	KCTD17	OMIM:616398
HP:0004373	Focal dystonia	1861	TOR1A	ORPHA:36899
HP:0004373	Focal dystonia	1861	TOR1A	OMIM:128100
HP:0004373	Focal dystonia	84504	NKX6-2	OMIM:617560
HP:0004373	Focal dystonia	10935	PRDX3	OMIM:619862
HP:0004373	Focal dystonia	9757	KMT2B	OMIM:617284
HP:0004373	Focal dystonia	9757	KMT2B	ORPHA:589618
HP:0004373	Focal dystonia	2313	FLI1	ORPHA:370348
HP:0004373	Focal dystonia	112476	PRRT2	ORPHA:98810
HP:0004373	Focal dystonia	1267	CNP	OMIM:619071
HP:0004373	Focal dystonia	8558	CDK10	OMIM:617694
HP:0004373	Focal dystonia	6711	SPTBN1	OMIM:619475
HP:0004373	Focal dystonia	4929	NR4A2	ORPHA:98808
HP:0004373	Focal dystonia	3615	IMPDH2	ORPHA:98808
HP:0004373	Focal dystonia	10382	TUBB4A	ORPHA:98805
HP:0004373	Focal dystonia	10382	TUBB4A	OMIM:128101
HP:0004373	Focal dystonia	7701	ZNF142	OMIM:618425
HP:0004373	Focal dystonia	55145	THAP1	ORPHA:98806
HP:0004373	Focal dystonia	55145	THAP1	OMIM:602629
HP:0004373	Focal dystonia	3098	HK1	OMIM:618547
HP:0004373	Focal dystonia	55823	VPS11	OMIM:619637
HP:0004373	Focal dystonia	3748	KCNC3	ORPHA:98768
HP:0004373	Focal dystonia	80036	TRPM3	OMIM:620224
HP:0004373	Focal dystonia	11198	SUPT16H	OMIM:619480
HP:0004373	Focal dystonia	79796	ALG9	ORPHA:79328
HP:0004373	Focal dystonia	78989	COLEC11	OMIM:265050
HP:0004373	Focal dystonia	128240	NAXE	OMIM:617186
HP:0004373	Focal dystonia	4617	MYF5	OMIM:618155
HP:0004373	Focal dystonia	6663	SOX10	OMIM:609136
HP:0004373	Focal dystonia	6908	TBP	ORPHA:98759
HP:0004373	Focal dystonia	126792	B3GALT6	ORPHA:536467
HP:0004373	Focal dystonia	2898	GRIK2	OMIM:611092
HP:0004373	Focal dystonia	8831	SYNGAP1	OMIM:612621
HP:0004373	Focal dystonia	256472	TMEM151A	OMIM:620245
HP:0004373	Focal dystonia	3679	ITGA7	OMIM:613204
HP:0004373	Focal dystonia	7042	TGFB2	OMIM:614816
HP:0004373	Focal dystonia	6342	SCP2	OMIM:613724
HP:0004373	Focal dystonia	59341	TRPV4	OMIM:181405
HP:0004373	Focal dystonia	57167	SALL4	ORPHA:233
HP:0004373	Focal dystonia	9935	MAFB	ORPHA:233
HP:0004373	Focal dystonia	1123	CHN1	ORPHA:233
HP:0004373	Focal dystonia	7291	TWIST1	ORPHA:794
HP:0004373	Focal dystonia	2263	FGFR2	ORPHA:794
HP:0004373	Focal dystonia	2261	FGFR3	ORPHA:794
HP:0004373	Focal dystonia	1816	DRD5	OMIM:606798
HP:0004373	Focal dystonia	10815	CPLX1	ORPHA:352582
HP:0004373	Focal dystonia	3339	HSPG2	ORPHA:800
HP:0004373	Focal dystonia	84172	POLR1B	ORPHA:861
HP:0004373	Focal dystonia	9533	POLR1C	ORPHA:861
HP:0004373	Focal dystonia	51082	POLR1D	ORPHA:861
HP:0004373	Focal dystonia	6949	TCOF1	ORPHA:861
HP:0004373	Focal dystonia	56910	STARD7	OMIM:607876
HP:0004373	Focal dystonia	11315	PARK7	OMIM:606324
HP:0004373	Focal dystonia	2512	FTL	OMIM:606159
HP:0004373	Focal dystonia	2512	FTL	ORPHA:157846
HP:0004373	Focal dystonia	5354	PLP1	OMIM:312080
HP:0004373	Focal dystonia	3094	HINT1	ORPHA:324442
HP:0004373	Focal dystonia	3736	KCNA1	ORPHA:98809
HP:0004373	Focal dystonia	2767	GNA11	ORPHA:428
HP:0004373	Focal dystonia	846	CASR	ORPHA:428
HP:0004373	Focal dystonia	84909	AOPEP	OMIM:619565
HP:0004373	Focal dystonia	57465	TBC1D24	ORPHA:163727
HP:0004373	Focal dystonia	57465	TBC1D24	OMIM:608105
HP:0004373	Focal dystonia	1678	TIMM8A	ORPHA:52368
HP:0004373	Focal dystonia	8398	PLA2G6	ORPHA:199351
HP:0004373	Focal dystonia	80025	PANK2	ORPHA:216873
HP:0004373	Focal dystonia	3074	HEXB	ORPHA:309169
HP:0004373	Focal dystonia	170302	ARX	OMIM:309510
HP:0004373	Focal dystonia	4137	MAPT	ORPHA:240103
HP:0004373	Focal dystonia	9256	TSPOAP1	ORPHA:101150
HP:0004373	Focal dystonia	7054	TH	ORPHA:101150
HP:0004373	Focal dystonia	5832	ALDH18A1	ORPHA:447757
HP:0004373	Focal dystonia	6872	TAF1	ORPHA:53351
HP:0004373	Focal dystonia	5582	PRKCG	OMIM:605361
HP:0004373	Focal dystonia	1822	ATN1	ORPHA:101
HP:0004373	Focal dystonia	80347	COASY	ORPHA:397725
HP:0004373	Focal dystonia	80347	COASY	OMIM:615643
HP:0004373	Focal dystonia	2521	FUS	ORPHA:300605
HP:0004373	Focal dystonia	80208	SPG11	ORPHA:300605
HP:0004373	Focal dystonia	10280	SIGMAR1	ORPHA:300605
HP:0004373	Focal dystonia	10558	SPTLC1	ORPHA:300605
HP:0004373	Focal dystonia	57679	ALS2	ORPHA:300605
HP:0004373	Focal dystonia	83636	C19orf12	OMIM:614298
HP:0004373	Focal dystonia	23516	SLC39A14	OMIM:617013
HP:0004373	Focal dystonia	23516	SLC39A14	ORPHA:521406
HP:0004373	Focal dystonia	6531	SLC6A3	OMIM:613135
HP:0004373	Focal dystonia	23230	VPS13A	ORPHA:2388
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:94089
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:79443
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:79444
HP:0004373	Focal dystonia	8675	STX16	ORPHA:94089
HP:0004373	Focal dystonia	518	ATP5MC3	OMIM:619681
HP:0004373	Focal dystonia	16	AARS1	OMIM:619691
HP:0004373	Focal dystonia	51102	MECR	OMIM:617282
HP:0004373	Focal dystonia	51102	MECR	ORPHA:508093
HP:0004373	Focal dystonia	55697	VAC14	OMIM:617054
HP:0004373	Focal dystonia	4700	NDUFA6	OMIM:618253
HP:0004373	Focal dystonia	80704	SLC19A3	OMIM:607483
HP:0004373	Focal dystonia	65055	REEP1	OMIM:620011
HP:0004373	Focal dystonia	55768	NGLY1	ORPHA:404454
HP:0004374	Hemiplegia/hemiparesis	5654	HTRA1	ORPHA:199354
HP:0004374	Hemiplegia/hemiparesis	4558	MT-TF	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4558	MT-TF	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4572	MT-TQ	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4572	MT-TQ	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4512	MT-CO1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4512	MT-CO1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4513	MT-CO2	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4513	MT-CO2	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4514	MT-CO3	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4514	MT-CO3	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4578	MT-TW	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4578	MT-TW	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4540	MT-ND5	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4540	MT-ND5	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4541	MT-ND6	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4541	MT-ND6	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4535	MT-ND1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4535	MT-ND1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4538	MT-ND4	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4574	MT-TS1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4574	MT-TS1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4575	MT-TS2	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4575	MT-TS2	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4564	MT-TH	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4524	MTHFR	ORPHA:395
HP:0004374	Hemiplegia/hemiparesis	2982	GUCY1A1	OMIM:615750
HP:0004374	Hemiplegia/hemiparesis	8314	BAP1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4771	NF2	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4771	NF2	ORPHA:637
HP:0004374	Hemiplegia/hemiparesis	5155	PDGFB	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	84231	TRAF7	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	6608	SMO	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	207	AKT1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	7015	TERT	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	51684	SUFU	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	6605	SMARCE1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	23600	AMACR	OMIM:614307
HP:0004374	Hemiplegia/hemiparesis	7174	TPP2	ORPHA:444463
HP:0004374	Hemiplegia/hemiparesis	8405	SPOP	OMIM:618829
HP:0004374	Hemiplegia/hemiparesis	1630	DCC	OMIM:617542
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B	OMIM:610031
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B	ORPHA:300573
HP:0004374	Hemiplegia/hemiparesis	29110	TBK1	OMIM:617900
HP:0004374	Hemiplegia/hemiparesis	2475	MTOR	ORPHA:99802
HP:0004374	Hemiplegia/hemiparesis	2475	MTOR	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	10000	AKT3	ORPHA:99802
HP:0004374	Hemiplegia/hemiparesis	10551	AGR2	OMIM:620233
HP:0004374	Hemiplegia/hemiparesis	3516	RBPJ	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	4851	NOTCH1	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	57514	ARHGAP31	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	57572	DOCK6	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	285203	EOGT	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	54567	DLL4	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	284403	WDR62	OMIM:604317
HP:0004374	Hemiplegia/hemiparesis	10059	DNM1L	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	4976	OPA1	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	4511	MT-TC	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4566	MT-TK	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4577	MT-TV	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1	OMIM:606777
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1	ORPHA:71277
HP:0004374	Hemiplegia/hemiparesis	23221	RHOBTB2	OMIM:618004
HP:0004374	Hemiplegia/hemiparesis	215	ABCD1	ORPHA:139396
HP:0004374	Hemiplegia/hemiparesis	9692	PRORP	OMIM:619737
HP:0004374	Hemiplegia/hemiparesis	340665	CYP26C1	ORPHA:398189
HP:0004374	Hemiplegia/hemiparesis	3431	SP110	ORPHA:79124
HP:0004374	Hemiplegia/hemiparesis	3119	HLA-DQB1	OMIM:123400
HP:0004374	Hemiplegia/hemiparesis	3265	HRAS	ORPHA:2874
HP:0004374	Hemiplegia/hemiparesis	7276	TTR	OMIM:105210
HP:0004374	Hemiplegia/hemiparesis	7248	TSC1	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	7249	TSC2	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	2632	GBE1	ORPHA:206583
HP:0004374	Hemiplegia/hemiparesis	6899	TBX1	OMIM:188400
HP:0004374	Hemiplegia/hemiparesis	7098	TLR3	OMIM:613002
HP:0004374	Hemiplegia/hemiparesis	8398	PLA2G6	OMIM:612953
HP:0004374	Hemiplegia/hemiparesis	3075	CFH	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	3078	CFHR1	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	10878	CFHR3	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	55901	THSD1	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	7049	TGFBR3	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	1281	COL3A1	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	83854	ANGPTL6	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	2022	ENG	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	149233	IL23R	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3586	IL10	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	4210	MEFV	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	1230	CCR1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	355	FAS	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3592	IL12A	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	101928376	IL12A-AS1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3106	HLA-B	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	7099	TLR4	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3459	IFNGR1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	720	C4A	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	337867	UBAC2	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	51752	ERAP1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	8302	KLRC4	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	4854	NOTCH3	ORPHA:136
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2	OMIM:182410
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2	OMIM:615688
HP:0004374	Hemiplegia/hemiparesis	158	ADSL	OMIM:103050
HP:0004374	Hemiplegia/hemiparesis	727676	SNORD118	OMIM:614561
HP:0004374	Hemiplegia/hemiparesis	1284	COL4A2	OMIM:614483
HP:0004374	Hemiplegia/hemiparesis	6331	SCN5A	ORPHA:1344
HP:0004374	Hemiplegia/hemiparesis	4878	NPPA	ORPHA:1344
HP:0004374	Hemiplegia/hemiparesis	4519	MT-CYB	ORPHA:137675
HP:0004374	Hemiplegia/hemiparesis	478	ATP1A3	OMIM:614820
HP:0004374	Hemiplegia/hemiparesis	2260	FGFR1	ORPHA:2396
HP:0004374	Hemiplegia/hemiparesis	3845	KRAS	ORPHA:2396
HP:0004374	Hemiplegia/hemiparesis	1282	COL4A1	OMIM:175780
HP:0004374	Hemiplegia/hemiparesis	6775	STAT4	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	6696	SPP1	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	3654	IRAK1	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	1493	CTLA4	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	26191	PTPN22	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	3115	HLA-DPB1	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	5657	PRTN3	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	3113	HLA-DPA1	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	2776	GNAQ	ORPHA:624
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	ORPHA:97
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	OMIM:141500
HP:0004374	Hemiplegia/hemiparesis	112476	PRRT2	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A	OMIM:609634
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	OMIM:602481
HP:0004374	Hemiplegia/hemiparesis	6821	SUOX	OMIM:272300
HP:0004374	Hemiplegia/hemiparesis	6507	SLC1A3	ORPHA:209967
HP:0004374	Hemiplegia/hemiparesis	6507	SLC1A3	OMIM:612656
HP:0004374	Hemiplegia/hemiparesis	5551	PRF1	OMIM:603553
HP:0004374	Hemiplegia/hemiparesis	81704	DOCK8	OMIM:243700
HP:0004374	Hemiplegia/hemiparesis	2581	GALC	ORPHA:206443
HP:0004374	Hemiplegia/hemiparesis	2581	GALC	ORPHA:206448
HP:0004374	Hemiplegia/hemiparesis	170302	ARX	ORPHA:3175
HP:0004374	Hemiplegia/hemiparesis	80169	CTC1	OMIM:612199
HP:0004374	Hemiplegia/hemiparesis	50485	SMARCAL1	ORPHA:1830
HP:0004374	Hemiplegia/hemiparesis	57465	TBC1D24	ORPHA:352596
HP:0004374	Hemiplegia/hemiparesis	2782	GNB1	OMIM:616973
HP:0004374	Hemiplegia/hemiparesis	5053	PAH	ORPHA:79254
HP:0004374	Hemiplegia/hemiparesis	1374	CPT1A	ORPHA:156
HP:0004374	Hemiplegia/hemiparesis	3251	HPRT1	ORPHA:510
HP:0004374	Hemiplegia/hemiparesis	4594	MMUT	ORPHA:289916
HP:0004374	Hemiplegia/hemiparesis	875	CBS	ORPHA:394
HP:0004374	Hemiplegia/hemiparesis	3769	KCNJ13	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	343035	RD3	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	145226	RDH12	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	1406	CRX	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	64802	NMNAT1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	57096	RPGRIP1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	80184	CEP290	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	10383	TUBB4B	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9742	IFT140	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	85015	USP45	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	6121	RPE65	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	23418	CRB1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5130	PCYT1A	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9657	IQCB1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	23746	AIPL1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	3000	GUCY2D	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9227	LRAT	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	55812	SPATA7	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	7287	TULP1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	167691	LCA5	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	3614	IMPDH1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	7157	TP53	ORPHA:2807
HP:0004374	Hemiplegia/hemiparesis	5590	PRKCZ	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	2563	GABRD	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	23013	SPEN	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	8510	MMP23B	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	7798	LUZP1	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	6497	SKI	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	10630	PDPN	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	3339	HSPG2	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	10277	UBE4B	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	8514	KCNAB2	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	473	RERE	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	63976	PRDM16	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	54897	CASZ1	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	1776	DNASE1L3	ORPHA:36412
HP:0004374	Hemiplegia/hemiparesis	148789	B3GALNT2	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	29925	GMPPB	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	79147	FKRP	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	9215	LARGE1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	29954	POMT2	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	2218	FKTN	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	55624	POMGNT1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	10585	POMT1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	8517	IKBKG	ORPHA:464
HP:0004374	Hemiplegia/hemiparesis	4072	EPCAM	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4292	MLH1	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5395	PMS2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	27030	MLH3	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	22909	FAN1	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	7048	TGFBR2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5290	PIK3CA	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	2956	MSH6	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5378	PMS1	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4436	MSH2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	64218	SEMA4A	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	657	BMPR1A	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	6224	RPS20	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	6598	SMARCB1	ORPHA:99966
HP:0004374	Hemiplegia/hemiparesis	5264	PHYH	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	5191	PEX7	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	5159	PDGFRB	ORPHA:2591
HP:0004374	Hemiplegia/hemiparesis	7274	TTPA	ORPHA:96
HP:0004374	Hemiplegia/hemiparesis	54476	RNF216	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	10908	PNPLA6	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	4509	MT-ATP8	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	4567	MT-TL1	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	50484	RRM2B	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM	ORPHA:2182
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM	ORPHA:2466
HP:0004374	Hemiplegia/hemiparesis	9573	GDF3	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	4222	MEOX1	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	9990	SLC12A6	ORPHA:1496
HP:0004374	Hemiplegia/hemiparesis	51002	TPRKB	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	84942	WDR73	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	55644	OSGEP	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	57122	NUP107	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	10785	WDR4	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	55746	NUP133	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	112858	TP53RK	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	8270	LAGE3	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	5167	ENPP1	ORPHA:758
HP:0004374	Hemiplegia/hemiparesis	368	ABCC6	ORPHA:758
HP:0004374	Hemiplegia/hemiparesis	10535	RNASEH2A	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	84153	RNASEH2C	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	25939	SAMHD1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	79621	RNASEH2B	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	103	ADAR	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	11277	TREX1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	100147744	RNU7-1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	134353	LSM11	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	64135	IFIH1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	128674	PROKR2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	6657	SOX2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	6658	SOX3	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	9915	ARNT2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	8820	HESX1	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	5015	OTX2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	4668	NAGA	ORPHA:79279
HP:0004374	Hemiplegia/hemiparesis	5728	PTEN	ORPHA:137608
HP:0004374	Hemiplegia/hemiparesis	383	ARG1	ORPHA:90
HP:0004374	Hemiplegia/hemiparesis	79029	AFG2B	OMIM:619616
HP:0004374	Hemiplegia/hemiparesis	5621	PRNP	ORPHA:282166
HP:0004374	Hemiplegia/hemiparesis	3155	HMGCL	ORPHA:20
HP:0004374	Hemiplegia/hemiparesis	27235	COQ2	OMIM:607426
HP:0004375	Neoplasm of the nervous system	3815	KIT	OMIM:606764
HP:0004375	Neoplasm of the nervous system	6711	SPTBN1	OMIM:619475
HP:0004375	Neoplasm of the nervous system	4035	LRP1	ORPHA:79100
HP:0004375	Neoplasm of the nervous system	2737	GLI3	ORPHA:672
HP:0004375	Neoplasm of the nervous system	2737	GLI3	OMIM:146510
HP:0004375	Neoplasm of the nervous system	8481	OFD1	OMIM:311200
HP:0004375	Neoplasm of the nervous system	8481	OFD1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	64601	VPS16	OMIM:619291
HP:0004375	Neoplasm of the nervous system	4990	SIX6	OMIM:206900
HP:0004375	Neoplasm of the nervous system	6657	SOX2	OMIM:206900
HP:0004375	Neoplasm of the nervous system	4123	MAN2C1	OMIM:619775
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1	OMIM:277170
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	7074	TIAM1	OMIM:619908
HP:0004375	Neoplasm of the nervous system	10210	TOPORS	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	9851	KIAA0753	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	26123	TCTN3	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	5147	PDE6D	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	51259	TMEM216	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	317662	FAM149B1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	374654	KIF7	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	1616	DAXX	ORPHA:100075
HP:0004375	Neoplasm of the nervous system	546	ATRX	ORPHA:100075
HP:0004375	Neoplasm of the nervous system	4913	NTHL1	ORPHA:454840
HP:0004375	Neoplasm of the nervous system	4913	NTHL1	OMIM:616415
HP:0004375	Neoplasm of the nervous system	7486	WRN	ORPHA:902
HP:0004375	Neoplasm of the nervous system	7486	WRN	OMIM:277700
HP:0004375	Neoplasm of the nervous system	11235	PDCD10	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	83605	CCM2	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	889	KRIT1	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	8665	EIF3F	OMIM:618295
HP:0004375	Neoplasm of the nervous system	79798	ARMC5	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	2778	GNAS	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	2033	EP300	ORPHA:353284
HP:0004375	Neoplasm of the nervous system	4000	LMNA	ORPHA:79474
HP:0004375	Neoplasm of the nervous system	4330	MN1	OMIM:607174
HP:0004375	Neoplasm of the nervous system	23405	DICER1	OMIM:601200
HP:0004375	Neoplasm of the nervous system	5727	PTCH1	ORPHA:77301
HP:0004375	Neoplasm of the nervous system	5727	PTCH1	OMIM:109400
HP:0004375	Neoplasm of the nervous system	171023	ASXL1	ORPHA:97297
HP:0004375	Neoplasm of the nervous system	23432	GPR161	OMIM:155255
HP:0004375	Neoplasm of the nervous system	8518	ELP1	OMIM:155255
HP:0004375	Neoplasm of the nervous system	8643	PTCH2	OMIM:155255
HP:0004375	Neoplasm of the nervous system	1499	CTNNB1	OMIM:155255
HP:0004375	Neoplasm of the nervous system	79728	PALB2	OMIM:610832
HP:0004375	Neoplasm of the nervous system	26040	SETBP1	ORPHA:798
HP:0004375	Neoplasm of the nervous system	429	ASCL1	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	7528	YY1	ORPHA:506358
HP:0004375	Neoplasm of the nervous system	2239	GPC4	ORPHA:373
HP:0004375	Neoplasm of the nervous system	2719	GPC3	ORPHA:373
HP:0004375	Neoplasm of the nervous system	5590	PRKCZ	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	2563	GABRD	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	23013	SPEN	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	8510	MMP23B	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	7798	LUZP1	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	6497	SKI	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	10630	PDPN	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	3339	HSPG2	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	10277	UBE4B	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	8514	KCNAB2	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	473	RERE	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	63976	PRDM16	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	54897	CASZ1	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	5781	PTPN11	ORPHA:500
HP:0004375	Neoplasm of the nervous system	673	BRAF	ORPHA:500
HP:0004375	Neoplasm of the nervous system	5894	RAF1	ORPHA:500
HP:0004375	Neoplasm of the nervous system	64324	NSD1	ORPHA:821
HP:0004375	Neoplasm of the nervous system	29072	SETD2	ORPHA:821
HP:0004375	Neoplasm of the nervous system	10297	APC2	ORPHA:821
HP:0004375	Neoplasm of the nervous system	861	RUNX1	OMIM:601399
HP:0004375	Neoplasm of the nervous system	23476	BRD4	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	256646	NUTM1	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	4665	NAB2	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	6778	STAT6	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	4613	MYCN	ORPHA:635
HP:0004375	Neoplasm of the nervous system	7153	TOP2A	ORPHA:635
HP:0004375	Neoplasm of the nervous system	238	ALK	ORPHA:635
HP:0004375	Neoplasm of the nervous system	389421	LIN28B	ORPHA:635
HP:0004375	Neoplasm of the nervous system	4004	LMO1	ORPHA:635
HP:0004375	Neoplasm of the nervous system	57531	HACE1	ORPHA:635
HP:0004375	Neoplasm of the nervous system	79944	L2HGDH	ORPHA:79314
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	OMIM:613013
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	ORPHA:661
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	ORPHA:2151
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	OMIM:209880
HP:0004375	Neoplasm of the nervous system	1908	EDN3	ORPHA:661
HP:0004375	Neoplasm of the nervous system	2668	GDNF	ORPHA:661
HP:0004375	Neoplasm of the nervous system	627	BDNF	ORPHA:661
HP:0004375	Neoplasm of the nervous system	283446	MYO1H	ORPHA:661
HP:0004375	Neoplasm of the nervous system	23095	KIF1B	OMIM:256700
HP:0004375	Neoplasm of the nervous system	7428	VHL	ORPHA:892
HP:0004375	Neoplasm of the nervous system	7428	VHL	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	7428	VHL	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	595	CCND1	ORPHA:892
HP:0004375	Neoplasm of the nervous system	1743	DLST	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	4191	MDH2	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	5979	RET	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	5979	RET	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	6389	SDHA	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	2271	FH	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	8402	SLC25A11	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	54949	SDHAF2	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	55654	TMEM127	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	4763	NF1	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6391	SDHC	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6391	SDHC	OMIM:605373
HP:0004375	Neoplasm of the nervous system	6392	SDHD	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6392	SDHD	OMIM:168000
HP:0004375	Neoplasm of the nervous system	6392	SDHD	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	6390	SDHB	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6390	SDHB	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	6390	SDHB	OMIM:115310
HP:0004375	Neoplasm of the nervous system	4149	MAX	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	1788	DNMT3A	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	2034	EPAS1	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	203068	TUBB	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	203068	TUBB	OMIM:156610
HP:0004375	Neoplasm of the nervous system	10982	MAPRE2	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	57688	ZSWIM6	ORPHA:1827
HP:0004375	Neoplasm of the nervous system	257	ALX3	OMIM:136760
HP:0004375	Neoplasm of the nervous system	257	ALX3	ORPHA:391474
HP:0004375	Neoplasm of the nervous system	8092	ALX1	ORPHA:306542
HP:0004375	Neoplasm of the nervous system	9817	KEAP1	ORPHA:276399
HP:0004375	Neoplasm of the nervous system	3767	KCNJ11	ORPHA:79644
HP:0004375	Neoplasm of the nervous system	3735	KARS1	OMIM:613641
HP:0004375	Neoplasm of the nervous system	3265	HRAS	OMIM:218040
HP:0004375	Neoplasm of the nervous system	4437	MSH3	OMIM:617100
HP:0004375	Neoplasm of the nervous system	4437	MSH3	ORPHA:480536
HP:0004375	Neoplasm of the nervous system	3418	IDH2	ORPHA:163634
HP:0004375	Neoplasm of the nervous system	2639	GCDH	ORPHA:25
HP:0004375	Neoplasm of the nervous system	4292	MLH1	OMIM:276300
HP:0004375	Neoplasm of the nervous system	25913	POT1	OMIM:616568
HP:0004375	Neoplasm of the nervous system	4683	NBN	OMIM:251260
HP:0004375	Neoplasm of the nervous system	4683	NBN	ORPHA:647
HP:0004375	Neoplasm of the nervous system	7249	TSC2	OMIM:613254
HP:0004375	Neoplasm of the nervous system	3458	IFNG	OMIM:613254
HP:0004375	Neoplasm of the nervous system	7248	TSC1	OMIM:191100
HP:0004375	Neoplasm of the nervous system	1387	CREBBP	ORPHA:353281
HP:0004375	Neoplasm of the nervous system	2313	FLI1	ORPHA:370348
HP:0004375	Neoplasm of the nervous system	657	BMPR1A	ORPHA:79076
HP:0004375	Neoplasm of the nervous system	5925	RB1	OMIM:180200
HP:0004375	Neoplasm of the nervous system	64218	SEMA4A	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	6224	RPS20	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	4072	EPCAM	ORPHA:144
HP:0004375	Neoplasm of the nervous system	5395	PMS2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	5395	PMS2	OMIM:619101
HP:0004375	Neoplasm of the nervous system	27030	MLH3	ORPHA:144
HP:0004375	Neoplasm of the nervous system	22909	FAN1	ORPHA:144
HP:0004375	Neoplasm of the nervous system	7048	TGFBR2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	3845	KRAS	ORPHA:144
HP:0004375	Neoplasm of the nervous system	2956	MSH6	ORPHA:144
HP:0004375	Neoplasm of the nervous system	2956	MSH6	OMIM:619097
HP:0004375	Neoplasm of the nervous system	5378	PMS1	ORPHA:144
HP:0004375	Neoplasm of the nervous system	4436	MSH2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	4436	MSH2	OMIM:619096
HP:0004375	Neoplasm of the nervous system	675	BRCA2	OMIM:613029
HP:0004375	Neoplasm of the nervous system	2064	ERBB2	OMIM:137800
HP:0004375	Neoplasm of the nervous system	3417	IDH1	OMIM:137800
HP:0004375	Neoplasm of the nervous system	389692	MAFA	OMIM:147630
HP:0004375	Neoplasm of the nervous system	4221	MEN1	ORPHA:652
HP:0004375	Neoplasm of the nervous system	4221	MEN1	OMIM:131100
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B	ORPHA:652
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B	ORPHA:276152
HP:0004375	Neoplasm of the nervous system	1026	CDKN1A	ORPHA:652
HP:0004375	Neoplasm of the nervous system	1030	CDKN2B	ORPHA:652
HP:0004375	Neoplasm of the nervous system	1031	CDKN2C	ORPHA:652
HP:0004375	Neoplasm of the nervous system	2642	GCGR	ORPHA:438274
HP:0004375	Neoplasm of the nervous system	5426	POLE	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	5424	POLD1	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	7373	COL14A1	ORPHA:79501
HP:0004375	Neoplasm of the nervous system	79719	AAGAB	ORPHA:79501
HP:0004375	Neoplasm of the nervous system	25978	CHMP2B	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	5663	PSEN1	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	2896	GRN	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	54664	TMEM106B	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	4137	MAPT	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	54209	TREM2	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	7415	VCP	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	65998	ZFTA	ORPHA:251636
HP:0004375	Neoplasm of the nervous system	5970	RELA	ORPHA:251636
HP:0004375	Neoplasm of the nervous system	10483	SEC23B	ORPHA:201
HP:0004375	Neoplasm of the nervous system	5728	PTEN	ORPHA:201
HP:0004375	Neoplasm of the nervous system	5728	PTEN	ORPHA:744
HP:0004375	Neoplasm of the nervous system	205717	USF3	ORPHA:201
HP:0004375	Neoplasm of the nervous system	100144748	KLLN	ORPHA:201
HP:0004375	Neoplasm of the nervous system	2048	EPHB2	OMIM:603688
HP:0004375	Neoplasm of the nervous system	2130	EWSR1	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	7490	WT1	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	324	APC	ORPHA:99818
HP:0004375	Neoplasm of the nervous system	161742	SPRED1	ORPHA:137605
HP:0004375	Neoplasm of the nervous system	7157	TP53	ORPHA:524
HP:0004375	Neoplasm of the nervous system	1029	CDKN2A	ORPHA:524
HP:0004375	Neoplasm of the nervous system	4193	MDM2	ORPHA:524
HP:0004375	Neoplasm of the nervous system	11200	CHEK2	ORPHA:524
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A	OMIM:160980
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A	ORPHA:1359
HP:0004375	Neoplasm of the nervous system	8930	MBD4	OMIM:619975
HP:0004375	Neoplasm of the nervous system	54894	RNF43	ORPHA:157798
HP:0004375	Neoplasm of the nervous system	8216	LZTR1	OMIM:615670
HP:0004375	Neoplasm of the nervous system	50940	PDE11A	ORPHA:1359
HP:0004375	Neoplasm of the nervous system	8314	BAP1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	4771	NF2	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	4771	NF2	ORPHA:637
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	5155	PDGFB	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	84231	TRAF7	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	6608	SMO	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	207	AKT1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	7015	TERT	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	51684	SUFU	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	6605	SMARCE1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	2260	FGFR1	OMIM:613001
HP:0004375	Neoplasm of the nervous system	9508	ADAMTS3	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	147372	CCBE1	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	79633	FAT4	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	4854	NOTCH3	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	5159	PDGFRB	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	4952	OCRL	ORPHA:534
HP:0004375	Neoplasm of the nervous system	51057	WDPCP	ORPHA:1338
HP:0004375	Neoplasm of the nervous system	4893	NRAS	OMIM:249400
HP:0004376	Neuroblastic tumor	4763	NF1	OMIM:601321
HP:0004376	Neuroblastic tumor	7528	YY1	ORPHA:506358
HP:0004376	Neuroblastic tumor	2239	GPC4	ORPHA:373
HP:0004376	Neuroblastic tumor	2719	GPC3	ORPHA:373
HP:0004376	Neuroblastic tumor	6390	SDHB	OMIM:115310
HP:0004376	Neuroblastic tumor	5590	PRKCZ	ORPHA:1606
HP:0004376	Neuroblastic tumor	2563	GABRD	ORPHA:1606
HP:0004376	Neuroblastic tumor	23013	SPEN	ORPHA:1606
HP:0004376	Neuroblastic tumor	8510	MMP23B	ORPHA:1606
HP:0004376	Neuroblastic tumor	7798	LUZP1	ORPHA:1606
HP:0004376	Neuroblastic tumor	6497	SKI	ORPHA:1606
HP:0004376	Neuroblastic tumor	10630	PDPN	ORPHA:1606
HP:0004376	Neuroblastic tumor	3339	HSPG2	ORPHA:1606
HP:0004376	Neuroblastic tumor	10277	UBE4B	ORPHA:1606
HP:0004376	Neuroblastic tumor	8514	KCNAB2	ORPHA:1606
HP:0004376	Neuroblastic tumor	473	RERE	ORPHA:1606
HP:0004376	Neuroblastic tumor	63976	PRDM16	ORPHA:1606
HP:0004376	Neuroblastic tumor	54897	CASZ1	ORPHA:1606
HP:0004376	Neuroblastic tumor	4292	MLH1	OMIM:276300
HP:0004376	Neuroblastic tumor	4292	MLH1	ORPHA:144
HP:0004376	Neuroblastic tumor	5781	PTPN11	ORPHA:500
HP:0004376	Neuroblastic tumor	673	BRAF	ORPHA:500
HP:0004376	Neuroblastic tumor	5894	RAF1	ORPHA:500
HP:0004376	Neuroblastic tumor	64324	NSD1	ORPHA:821
HP:0004376	Neuroblastic tumor	29072	SETD2	ORPHA:821
HP:0004376	Neuroblastic tumor	10297	APC2	ORPHA:821
HP:0004376	Neuroblastic tumor	861	RUNX1	OMIM:601399
HP:0004376	Neuroblastic tumor	4072	EPCAM	ORPHA:144
HP:0004376	Neuroblastic tumor	5395	PMS2	ORPHA:144
HP:0004376	Neuroblastic tumor	27030	MLH3	ORPHA:144
HP:0004376	Neuroblastic tumor	22909	FAN1	ORPHA:144
HP:0004376	Neuroblastic tumor	7048	TGFBR2	ORPHA:144
HP:0004376	Neuroblastic tumor	3845	KRAS	ORPHA:144
HP:0004376	Neuroblastic tumor	5290	PIK3CA	ORPHA:144
HP:0004376	Neuroblastic tumor	2956	MSH6	ORPHA:144
HP:0004376	Neuroblastic tumor	5378	PMS1	ORPHA:144
HP:0004376	Neuroblastic tumor	4436	MSH2	ORPHA:144
HP:0004376	Neuroblastic tumor	64218	SEMA4A	ORPHA:440437
HP:0004376	Neuroblastic tumor	657	BMPR1A	ORPHA:440437
HP:0004376	Neuroblastic tumor	6224	RPS20	ORPHA:440437
HP:0004376	Neuroblastic tumor	79728	PALB2	OMIM:610832
HP:0004376	Neuroblastic tumor	5979	RET	ORPHA:99803
HP:0004376	Neuroblastic tumor	429	ASCL1	ORPHA:99803
HP:0004376	Neuroblastic tumor	23476	BRD4	ORPHA:443167
HP:0004376	Neuroblastic tumor	256646	NUTM1	ORPHA:443167
HP:0004376	Neuroblastic tumor	8929	PHOX2B	OMIM:613013
HP:0004376	Neuroblastic tumor	8929	PHOX2B	ORPHA:661
HP:0004376	Neuroblastic tumor	8929	PHOX2B	ORPHA:2151
HP:0004376	Neuroblastic tumor	8929	PHOX2B	OMIM:209880
HP:0004376	Neuroblastic tumor	1908	EDN3	ORPHA:661
HP:0004376	Neuroblastic tumor	2668	GDNF	ORPHA:661
HP:0004376	Neuroblastic tumor	627	BDNF	ORPHA:661
HP:0004376	Neuroblastic tumor	283446	MYO1H	ORPHA:661
HP:0004376	Neuroblastic tumor	23095	KIF1B	OMIM:256700
HP:0004376	Neuroblastic tumor	203068	TUBB	ORPHA:2505
HP:0004376	Neuroblastic tumor	203068	TUBB	OMIM:156610
HP:0004376	Neuroblastic tumor	10982	MAPRE2	ORPHA:2505
HP:0004377	Hematological neoplasm	861	RUNX1	ORPHA:98850
HP:0004377	Hematological neoplasm	2177	FANCD2	OMIM:227646
HP:0004377	Hematological neoplasm	2176	FANCC	OMIM:227645
HP:0004377	Hematological neoplasm	2189	FANCG	OMIM:614082
HP:0004377	Hematological neoplasm	8294	H4C9	OMIM:619951
HP:0004377	Hematological neoplasm	25913	POT1	OMIM:616568
HP:0004377	Hematological neoplasm	6335	SCN9A	ORPHA:90026
HP:0004377	Hematological neoplasm	11280	SCN11A	ORPHA:90026
HP:0004377	Hematological neoplasm	6336	SCN10A	ORPHA:90026
HP:0004377	Hematological neoplasm	1387	CREBBP	OMIM:180849
HP:0004377	Hematological neoplasm	2033	EP300	OMIM:180849
HP:0004377	Hematological neoplasm	9401	RECQL4	ORPHA:221016
HP:0004377	Hematological neoplasm	324	APC	ORPHA:99818
HP:0004377	Hematological neoplasm	2065	ERBB3	OMIM:133180
HP:0004377	Hematological neoplasm	5925	RB1	OMIM:180200
HP:0004377	Hematological neoplasm	4292	MLH1	OMIM:276300
HP:0004377	Hematological neoplasm	701	BUB1B	OMIM:257300
HP:0004377	Hematological neoplasm	1029	CDKN2A	ORPHA:524
HP:0004377	Hematological neoplasm	4193	MDM2	ORPHA:524
HP:0004377	Hematological neoplasm	11200	CHEK2	ORPHA:524
HP:0004377	Hematological neoplasm	10312	TCIRG1	ORPHA:486
HP:0004377	Hematological neoplasm	1991	ELANE	ORPHA:486
HP:0004377	Hematological neoplasm	2672	GFI1	ORPHA:486
HP:0004377	Hematological neoplasm	6729	SRP54	ORPHA:486
HP:0004377	Hematological neoplasm	6729	SRP54	ORPHA:811
HP:0004377	Hematological neoplasm	81570	CLPB	ORPHA:486
HP:0004377	Hematological neoplasm	4615	MYD88	ORPHA:33226
HP:0004377	Hematological neoplasm	4615	MYD88	OMIM:153600
HP:0004377	Hematological neoplasm	5290	PIK3CA	OMIM:602501
HP:0004377	Hematological neoplasm	2178	FANCE	OMIM:600901
HP:0004377	Hematological neoplasm	2175	FANCA	OMIM:227650
HP:0004377	Hematological neoplasm	3832	KIF11	ORPHA:2526
HP:0004377	Hematological neoplasm	641	BLM	OMIM:210900
HP:0004377	Hematological neoplasm	472	ATM	OMIM:208900
HP:0004377	Hematological neoplasm	8216	LZTR1	OMIM:605275
HP:0004377	Hematological neoplasm	134218	DNAJC21	ORPHA:811
HP:0004377	Hematological neoplasm	79631	EFL1	ORPHA:811
HP:0004377	Hematological neoplasm	51119	SBDS	ORPHA:811
HP:0004377	Hematological neoplasm	23476	BRD4	ORPHA:443167
HP:0004377	Hematological neoplasm	256646	NUTM1	ORPHA:443167
HP:0004377	Hematological neoplasm	64682	ANAPC1	ORPHA:221008
HP:0004377	Hematological neoplasm	5566	PRKACA	ORPHA:289
HP:0004377	Hematological neoplasm	5567	PRKACB	ORPHA:289
HP:0004377	Hematological neoplasm	2735	GLI1	ORPHA:289
HP:0004377	Hematological neoplasm	2121	EVC	ORPHA:289
HP:0004377	Hematological neoplasm	51626	DYNC2LI1	ORPHA:289
HP:0004377	Hematological neoplasm	132884	EVC2	ORPHA:289
HP:0004377	Hematological neoplasm	546	ATRX	ORPHA:231401
HP:0004377	Hematological neoplasm	7157	TP53	OMIM:151623
HP:0004377	Hematological neoplasm	7157	TP53	ORPHA:3318
HP:0004377	Hematological neoplasm	10019	SH2B3	ORPHA:3318
HP:0004377	Hematological neoplasm	811	CALR	ORPHA:3318
HP:0004377	Hematological neoplasm	4352	MPL	ORPHA:3318
HP:0004377	Hematological neoplasm	4352	MPL	ORPHA:729
HP:0004377	Hematological neoplasm	3717	JAK2	ORPHA:3318
HP:0004377	Hematological neoplasm	3717	JAK2	ORPHA:729
HP:0004377	Hematological neoplasm	54790	TET2	ORPHA:3318
HP:0004377	Hematological neoplasm	54790	TET2	ORPHA:729
HP:0004377	Hematological neoplasm	412	STS	ORPHA:281090
HP:0004377	Hematological neoplasm	7454	WAS	ORPHA:906
HP:0004377	Hematological neoplasm	7456	WIPF1	ORPHA:906
HP:0004377	Hematological neoplasm	7518	XRCC4	ORPHA:99812
HP:0004377	Hematological neoplasm	3981	LIG4	ORPHA:99812
HP:0004377	Hematological neoplasm	7305	TYROBP	ORPHA:2770
HP:0004377	Hematological neoplasm	54209	TREM2	ORPHA:2770
HP:0004377	Hematological neoplasm	4683	NBN	ORPHA:647
HP:0004377	Hematological neoplasm	9487	PIGL	ORPHA:3474
HP:0004377	Hematological neoplasm	2624	GATA2	ORPHA:3226
HP:0004377	Hematological neoplasm	8438	RAD54L	OMIM:605027
HP:0004377	Hematological neoplasm	25788	RAD54B	OMIM:605027
HP:0004377	Hematological neoplasm	5551	PRF1	OMIM:605027
HP:0004377	Hematological neoplasm	6023	RMRP	OMIM:250250
HP:0004377	Hematological neoplasm	6023	RMRP	ORPHA:39041
HP:0004377	Hematological neoplasm	4860	PNP	OMIM:613179
HP:0004377	Hematological neoplasm	5728	PTEN	ORPHA:109
HP:0004377	Hematological neoplasm	55636	CHD7	ORPHA:39041
HP:0004377	Hematological neoplasm	5896	RAG1	ORPHA:39041
HP:0004377	Hematological neoplasm	5897	RAG2	ORPHA:39041
HP:0004377	Hematological neoplasm	64421	DCLRE1C	ORPHA:39041
HP:0004377	Hematological neoplasm	3575	IL7R	ORPHA:39041
HP:0004377	Hematological neoplasm	1776	DNASE1L3	ORPHA:36412
HP:0004377	Hematological neoplasm	596	BCL2	ORPHA:545
HP:0004377	Hematological neoplasm	3123	HLA-DRB1	ORPHA:545
HP:0004377	Hematological neoplasm	604	BCL6	ORPHA:545
HP:0004377	Hematological neoplasm	23495	TNFRSF13B	OMIM:240500
HP:0004377	Hematological neoplasm	23495	TNFRSF13B	ORPHA:1572
HP:0004377	Hematological neoplasm	115650	TNFRSF13C	OMIM:240500
HP:0004377	Hematological neoplasm	115650	TNFRSF13C	ORPHA:1572
HP:0004377	Hematological neoplasm	1380	CR2	OMIM:240500
HP:0004377	Hematological neoplasm	1380	CR2	ORPHA:1572
HP:0004377	Hematological neoplasm	29851	ICOS	OMIM:240500
HP:0004377	Hematological neoplasm	29851	ICOS	ORPHA:1572
HP:0004377	Hematological neoplasm	930	CD19	OMIM:240500
HP:0004377	Hematological neoplasm	930	CD19	ORPHA:1572
HP:0004377	Hematological neoplasm	3117	HLA-DQA1	OMIM:212750
HP:0004377	Hematological neoplasm	3119	HLA-DQB1	OMIM:212750
HP:0004377	Hematological neoplasm	3514	IGKC	ORPHA:183675
HP:0004377	Hematological neoplasm	3501	IGHG2	ORPHA:183675
HP:0004377	Hematological neoplasm	8626	TP63	ORPHA:1896
HP:0004377	Hematological neoplasm	80169	CTC1	ORPHA:1775
HP:0004377	Hematological neoplasm	26277	TINF2	ORPHA:1775
HP:0004377	Hematological neoplasm	55651	NHP2	ORPHA:1775
HP:0004377	Hematological neoplasm	79650	USB1	ORPHA:1775
HP:0004377	Hematological neoplasm	55135	WRAP53	ORPHA:1775
HP:0004377	Hematological neoplasm	51750	RTEL1	ORPHA:1775
HP:0004377	Hematological neoplasm	55505	NOP10	ORPHA:1775
HP:0004377	Hematological neoplasm	5073	PARN	ORPHA:1775
HP:0004377	Hematological neoplasm	7298	TYMS	ORPHA:1775
HP:0004377	Hematological neoplasm	4790	NFKB1	ORPHA:1572
HP:0004377	Hematological neoplasm	4791	NFKB2	ORPHA:1572
HP:0004377	Hematological neoplasm	8742	TNFSF12	ORPHA:1572
HP:0004377	Hematological neoplasm	931	MS4A1	ORPHA:1572
HP:0004377	Hematological neoplasm	975	CD81	ORPHA:1572
HP:0004377	Hematological neoplasm	359948	IRF2BP2	ORPHA:1572
HP:0004377	Hematological neoplasm	5894	RAF1	ORPHA:500
HP:0004377	Hematological neoplasm	114803	MYSM1	ORPHA:508542
HP:0004377	Hematological neoplasm	7317	UBA1	OMIM:301054
HP:0004377	Hematological neoplasm	55159	RFWD3	OMIM:617784
HP:0004377	Hematological neoplasm	55159	RFWD3	ORPHA:84
HP:0004377	Hematological neoplasm	6731	SRP72	OMIM:614675
HP:0004377	Hematological neoplasm	6117	RPA1	OMIM:619767
HP:0004377	Hematological neoplasm	9837	GINS1	OMIM:617827
HP:0004377	Hematological neoplasm	6603	SMARCD2	OMIM:617475
HP:0004377	Hematological neoplasm	162417	NAGS	ORPHA:927
HP:0004377	Hematological neoplasm	672	BRCA1	ORPHA:84
HP:0004377	Hematological neoplasm	10459	MAD2L2	ORPHA:84
HP:0004377	Hematological neoplasm	7516	XRCC2	ORPHA:84
HP:0004377	Hematological neoplasm	55120	FANCL	ORPHA:84
HP:0004377	Hematological neoplasm	2187	FANCB	ORPHA:84
HP:0004377	Hematological neoplasm	2188	FANCF	ORPHA:84
HP:0004377	Hematological neoplasm	5888	RAD51	ORPHA:84
HP:0004377	Hematological neoplasm	5889	RAD51C	ORPHA:84
HP:0004377	Hematological neoplasm	83990	BRIP1	ORPHA:84
HP:0004377	Hematological neoplasm	57697	FANCM	ORPHA:84
HP:0004377	Hematological neoplasm	79728	PALB2	ORPHA:84
HP:0004377	Hematological neoplasm	84464	SLX4	ORPHA:84
HP:0004377	Hematological neoplasm	2072	ERCC4	ORPHA:84
HP:0004377	Hematological neoplasm	55215	FANCI	ORPHA:84
HP:0004377	Hematological neoplasm	23218	NBEAL2	ORPHA:721
HP:0004377	Hematological neoplasm	1441	CSF3R	OMIM:162830
HP:0004377	Hematological neoplasm	128	ADH5	OMIM:619151
HP:0004377	Hematological neoplasm	26511	CHIC2	OMIM:601626
HP:0004377	Hematological neoplasm	8021	NUP214	OMIM:601626
HP:0004377	Hematological neoplasm	1050	CEBPA	OMIM:601626
HP:0004377	Hematological neoplasm	2322	FLT3	OMIM:601626
HP:0004377	Hematological neoplasm	6455	SH3GL1	OMIM:601626
HP:0004377	Hematological neoplasm	4869	NPM1	OMIM:601626
HP:0004377	Hematological neoplasm	8028	MLLT10	OMIM:601626
HP:0004377	Hematological neoplasm	8301	PICALM	OMIM:601626
HP:0004377	Hematological neoplasm	4026	LPP	OMIM:601626
HP:0004377	Hematological neoplasm	8930	MBD4	OMIM:619975
HP:0004377	Hematological neoplasm	23451	SF3B1	ORPHA:75564
HP:0004377	Hematological neoplasm	54809	SAMD9	OMIM:619041
HP:0004377	Hematological neoplasm	6135	RPL11	ORPHA:124
HP:0004377	Hematological neoplasm	6138	RPL15	ORPHA:124
HP:0004377	Hematological neoplasm	6229	RPS24	ORPHA:124
HP:0004377	Hematological neoplasm	6125	RPL5	ORPHA:124
HP:0004377	Hematological neoplasm	6204	RPS10	ORPHA:124
HP:0004377	Hematological neoplasm	6224	RPS20	ORPHA:124
HP:0004377	Hematological neoplasm	6165	RPL35A	ORPHA:124
HP:0004377	Hematological neoplasm	6223	RPS19	ORPHA:124
HP:0004377	Hematological neoplasm	6232	RPS27	ORPHA:124
HP:0004377	Hematological neoplasm	6231	RPS26	ORPHA:124
HP:0004377	Hematological neoplasm	11224	RPL35	ORPHA:124
HP:0004377	Hematological neoplasm	6160	RPL31	ORPHA:124
HP:0004377	Hematological neoplasm	6218	RPS17	ORPHA:124
HP:0004377	Hematological neoplasm	6201	RPS7	ORPHA:124
HP:0004377	Hematological neoplasm	6155	RPL27	ORPHA:124
HP:0004377	Hematological neoplasm	6154	RPL26	ORPHA:124
HP:0004377	Hematological neoplasm	6210	RPS15A	ORPHA:124
HP:0004377	Hematological neoplasm	90121	TSR2	ORPHA:124
HP:0004377	Hematological neoplasm	6141	RPL18	ORPHA:124
HP:0004377	Hematological neoplasm	6235	RPS29	ORPHA:124
HP:0004377	Hematological neoplasm	6234	RPS28	ORPHA:124
HP:0004377	Hematological neoplasm	51428	DDX41	OMIM:616871
HP:0004377	Hematological neoplasm	29089	UBE2T	OMIM:616435
HP:0004377	Hematological neoplasm	2120	ETV6	OMIM:616216
HP:0004377	Hematological neoplasm	6929	TCF3	OMIM:619824
HP:0004377	Hematological neoplasm	219285	SAMD9L	OMIM:159550
HP:0004377	Hematological neoplasm	219285	SAMD9L	ORPHA:2585
HP:0004377	Hematological neoplasm	3417	IDH1	ORPHA:99646
HP:0004377	Hematological neoplasm	150274	HSCB	OMIM:619523
HP:0004377	Hematological neoplasm	3313	HSPA9	OMIM:182170
HP:0004377	Hematological neoplasm	4926	NUMA1	OMIM:612376
HP:0004377	Hematological neoplasm	5914	RARA	OMIM:612376
HP:0004377	Hematological neoplasm	6609	SMPD1	ORPHA:77293
HP:0004377	Hematological neoplasm	161742	SPRED1	ORPHA:137605
HP:0004377	Hematological neoplasm	7066	THPO	ORPHA:71493
HP:0004377	Hematological neoplasm	25	ABL1	OMIM:608232
HP:0004377	Hematological neoplasm	613	BCR	OMIM:608232
HP:0004377	Hematological neoplasm	3561	IL2RG	ORPHA:276
HP:0004377	Hematological neoplasm	970	CD70	OMIM:618261
HP:0004377	Hematological neoplasm	939	CD27	OMIM:615122
HP:0004377	Hematological neoplasm	50485	SMARCAL1	ORPHA:1830
HP:0004377	Hematological neoplasm	51816	ADA2	OMIM:615688
HP:0004377	Hematological neoplasm	1503	CTPS1	OMIM:615897
HP:0004377	Hematological neoplasm	987	LRBA	OMIM:614700
HP:0004377	Hematological neoplasm	7535	ZAP70	ORPHA:911
HP:0004377	Hematological neoplasm	4173	MCM4	OMIM:609981
HP:0004377	Hematological neoplasm	210	ALAD	ORPHA:100924
HP:0004377	Hematological neoplasm	5159	PDGFRB	OMIM:131440
HP:0004377	Hematological neoplasm	5156	PDGFRA	OMIM:607685
HP:0004377	Hematological neoplasm	5295	PIK3R1	OMIM:616005
HP:0004377	Hematological neoplasm	171023	ASXL1	ORPHA:98849
HP:0004377	Hematological neoplasm	3815	KIT	ORPHA:98849
HP:0004377	Hematological neoplasm	6427	SRSF2	ORPHA:98849
HP:0004377	Hematological neoplasm	4210	MEFV	ORPHA:3243
HP:0004377	Hematological neoplasm	10535	RNASEH2A	ORPHA:51
HP:0004377	Hematological neoplasm	84153	RNASEH2C	ORPHA:51
HP:0004377	Hematological neoplasm	25939	SAMHD1	ORPHA:51
HP:0004377	Hematological neoplasm	79621	RNASEH2B	ORPHA:51
HP:0004377	Hematological neoplasm	103	ADAR	ORPHA:51
HP:0004377	Hematological neoplasm	11277	TREX1	ORPHA:51
HP:0004377	Hematological neoplasm	100147744	RNU7-1	ORPHA:51
HP:0004377	Hematological neoplasm	134353	LSM11	ORPHA:51
HP:0004377	Hematological neoplasm	64135	IFIH1	ORPHA:51
HP:0004377	Hematological neoplasm	54888	NSUN2	ORPHA:235
HP:0004377	Hematological neoplasm	9184	BUB3	ORPHA:1052
HP:0004377	Hematological neoplasm	699	BUB1	ORPHA:1052
HP:0004377	Hematological neoplasm	9702	CEP57	ORPHA:1052
HP:0004377	Hematological neoplasm	9319	TRIP13	ORPHA:1052
HP:0004377	Hematological neoplasm	581	BAX	OMIM:613065
HP:0004377	Hematological neoplasm	2782	GNB1	OMIM:613065
HP:0004377	Hematological neoplasm	6886	TAL1	OMIM:613065
HP:0004377	Hematological neoplasm	6887	TAL2	OMIM:613065
HP:0004377	Hematological neoplasm	10320	IKZF1	OMIM:616873
HP:0004377	Hematological neoplasm	10456	HAX1	OMIM:610738
HP:0004377	Hematological neoplasm	64324	NSD1	ORPHA:821
HP:0004377	Hematological neoplasm	29072	SETD2	ORPHA:821
HP:0004377	Hematological neoplasm	10297	APC2	ORPHA:821
HP:0004377	Hematological neoplasm	675	BRCA2	OMIM:605724
HP:0004377	Hematological neoplasm	675	BRCA2	OMIM:613029
HP:0004377	Hematological neoplasm	4436	MSH2	OMIM:619096
HP:0004377	Hematological neoplasm	1854	DUT	OMIM:620044
HP:0004377	Hematological neoplasm	2623	GATA1	OMIM:190685
HP:0004377	Hematological neoplasm	2629	GBA1	OMIM:230800
HP:0004377	Hematological neoplasm	6208	RPS14	ORPHA:86841
HP:0004377	Hematological neoplasm	54894	RNF43	ORPHA:157798
HP:0004377	Hematological neoplasm	50619	DEF6	OMIM:619573
HP:0004377	Hematological neoplasm	8651	SOCS1	OMIM:619375
HP:0004377	Hematological neoplasm	6774	STAT3	OMIM:615952
HP:0004377	Hematological neoplasm	5238	PGM3	OMIM:615816
HP:0004377	Hematological neoplasm	1736	DKC1	OMIM:305000
HP:0004377	Hematological neoplasm	6925	TCF4	ORPHA:2896
HP:0004377	Hematological neoplasm	200942	KLHDC8B	OMIM:236000
HP:0004377	Hematological neoplasm	7373	COL14A1	ORPHA:79501
HP:0004377	Hematological neoplasm	79719	AAGAB	ORPHA:79501
HP:0004377	Hematological neoplasm	2956	MSH6	OMIM:619097
HP:0004377	Hematological neoplasm	5426	POLE	OMIM:618336
HP:0004377	Hematological neoplasm	355	FAS	ORPHA:3261
HP:0004377	Hematological neoplasm	356	FASLG	ORPHA:3261
HP:0004377	Hematological neoplasm	5580	PRKCD	ORPHA:3261
HP:0004377	Hematological neoplasm	843	CASP10	ORPHA:3261
HP:0004377	Hematological neoplasm	10125	RASGRP1	ORPHA:3261
HP:0004377	Hematological neoplasm	57217	TTC7A	OMIM:243150
HP:0004377	Hematological neoplasm	6850	SYK	OMIM:619381
HP:0004377	Hematological neoplasm	595	CCND1	ORPHA:52416
HP:0004377	Hematological neoplasm	3492	IGH	ORPHA:52416
HP:0004377	Hematological neoplasm	3492	IGH	ORPHA:52417
HP:0004377	Hematological neoplasm	330	BIRC3	ORPHA:52417
HP:0004377	Hematological neoplasm	10892	MALT1	ORPHA:52417
HP:0004377	Hematological neoplasm	27086	FOXP1	ORPHA:52417
HP:0004377	Hematological neoplasm	8915	BCL10	ORPHA:52417
HP:0004377	Hematological neoplasm	84061	MAGT1	OMIM:300853
HP:0004377	Hematological neoplasm	23149	FCHO1	OMIM:619164
HP:0004377	Hematological neoplasm	3702	ITK	OMIM:613011
HP:0004377	Hematological neoplasm	100	ADA	OMIM:102700
HP:0004377	Hematological neoplasm	5788	PTPRC	OMIM:619924
HP:0004377	Hematological neoplasm	22806	IKZF3	OMIM:619437
HP:0004377	Hematological neoplasm	4773	NFATC2	OMIM:620232
HP:0004377	Hematological neoplasm	1493	CTLA4	ORPHA:3162
HP:0004377	Hematological neoplasm	1493	CTLA4	ORPHA:2584
HP:0004377	Hematological neoplasm	940	CD28	ORPHA:3162
HP:0004377	Hematological neoplasm	940	CD28	ORPHA:2584
HP:0004377	Hematological neoplasm	7133	TNFRSF1B	ORPHA:3162
HP:0004377	Hematological neoplasm	7133	TNFRSF1B	ORPHA:2584
HP:0004377	Hematological neoplasm	867	CBL	OMIM:613563
HP:0004377	Hematological neoplasm	867	CBL	OMIM:607785
HP:0004377	Hematological neoplasm	4893	NRAS	OMIM:613224
HP:0004377	Hematological neoplasm	3845	KRAS	OMIM:609942
HP:0004377	Hematological neoplasm	4763	NF1	OMIM:607785
HP:0004377	Hematological neoplasm	23092	ARHGAP26	OMIM:607785
HP:0004377	Hematological neoplasm	5781	PTPN11	OMIM:607785
HP:0004377	Hematological neoplasm	5781	PTPN11	OMIM:163950
HP:0004377	Hematological neoplasm	5604	MAP2K1	OMIM:163950
HP:0004377	Hematological neoplasm	673	BRAF	OMIM:163950
HP:0004377	Hematological neoplasm	2165	F13B	ORPHA:331
HP:0004377	Hematological neoplasm	2162	F13A1	ORPHA:331
HP:0004377	Hematological neoplasm	7015	TERT	OMIM:614742
HP:0004377	Hematological neoplasm	7012	TERC	OMIM:614743
HP:0004377	Hematological neoplasm	1788	DNMT3A	ORPHA:404443
HP:0004377	Hematological neoplasm	26040	SETBP1	ORPHA:798
HP:0004377	Hematological neoplasm	4913	NTHL1	ORPHA:454840
HP:0004377	Hematological neoplasm	5395	PMS2	OMIM:619101
HP:0004377	Hematological neoplasm	399	RHOH	OMIM:618307
HP:0004377	Hematological neoplasm	331	XIAP	OMIM:308240
HP:0004377	Hematological neoplasm	4068	SH2D1A	OMIM:308240
HP:0004377	Hematological neoplasm	4609	MYC	OMIM:113970
HP:0004377	Hematological neoplasm	84868	HAVCR2	OMIM:618398
HP:0004378	Abnormality of the anus	64840	PORCN	OMIM:305600
HP:0004378	Abnormality of the anus	10128	LRPPRC	OMIM:220111
HP:0004378	Abnormality of the anus	9791	PTDSS1	OMIM:151050
HP:0004378	Abnormality of the anus	5447	POR	OMIM:201750
HP:0004378	Abnormality of the anus	5447	POR	ORPHA:95699
HP:0004378	Abnormality of the anus	23512	SUZ12	OMIM:618786
HP:0004378	Abnormality of the anus	222546	RFX6	OMIM:615710
HP:0004378	Abnormality of the anus	1024	CDK8	OMIM:618748
HP:0004378	Abnormality of the anus	29957	SLC25A24	OMIM:612289
HP:0004378	Abnormality of the anus	22800	RRAS2	OMIM:618624
HP:0004378	Abnormality of the anus	1857	DVL3	OMIM:616894
HP:0004378	Abnormality of the anus	8942	KYNU	OMIM:617661
HP:0004378	Abnormality of the anus	28514	DLL1	ORPHA:280195
HP:0004378	Abnormality of the anus	2253	FGF8	ORPHA:280195
HP:0004378	Abnormality of the anus	6496	SIX3	ORPHA:280195
HP:0004378	Abnormality of the anus	7050	TGIF1	ORPHA:280195
HP:0004378	Abnormality of the anus	4838	NODAL	ORPHA:280195
HP:0004378	Abnormality of the anus	6469	SHH	ORPHA:280195
HP:0004378	Abnormality of the anus	7546	ZIC2	ORPHA:280195
HP:0004378	Abnormality of the anus	6491	STIL	ORPHA:280195
HP:0004378	Abnormality of the anus	2619	GAS1	ORPHA:280195
HP:0004378	Abnormality of the anus	84976	DISP1	ORPHA:280195
HP:0004378	Abnormality of the anus	2736	GLI2	ORPHA:280195
HP:0004378	Abnormality of the anus	8928	FOXH1	ORPHA:280195
HP:0004378	Abnormality of the anus	5727	PTCH1	ORPHA:280195
HP:0004378	Abnormality of the anus	50937	CDON	ORPHA:280195
HP:0004378	Abnormality of the anus	55650	PIGV	OMIM:239300
HP:0004378	Abnormality of the anus	55650	PIGV	ORPHA:247262
HP:0004378	Abnormality of the anus	4784	NFIX	OMIM:602535
HP:0004378	Abnormality of the anus	84992	PIGY	ORPHA:247262
HP:0004378	Abnormality of the anus	93210	PGAP3	ORPHA:247262
HP:0004378	Abnormality of the anus	284098	PIGW	ORPHA:247262
HP:0004378	Abnormality of the anus	9487	PIGL	ORPHA:247262
HP:0004378	Abnormality of the anus	1108	CHD4	OMIM:617159
HP:0004378	Abnormality of the anus	157570	ESCO2	ORPHA:2319
HP:0004378	Abnormality of the anus	157570	ESCO2	OMIM:216100
HP:0004378	Abnormality of the anus	37	ACADVL	ORPHA:26793
HP:0004378	Abnormality of the anus	1656	DDX6	OMIM:618653
HP:0004378	Abnormality of the anus	1822	ATN1	OMIM:618494
HP:0004378	Abnormality of the anus	1642	DDB1	OMIM:619426
HP:0004378	Abnormality of the anus	26005	C2CD3	OMIM:615948
HP:0004378	Abnormality of the anus	26040	SETBP1	ORPHA:798
HP:0004378	Abnormality of the anus	2737	GLI3	ORPHA:672
HP:0004378	Abnormality of the anus	2737	GLI3	OMIM:146510
HP:0004378	Abnormality of the anus	9361	LONP1	OMIM:600373
HP:0004378	Abnormality of the anus	2294	FOXF1	OMIM:265380
HP:0004378	Abnormality of the anus	2294	FOXF1	ORPHA:210122
HP:0004378	Abnormality of the anus	117581	TWIST2	OMIM:227260
HP:0004378	Abnormality of the anus	117581	TWIST2	ORPHA:1807
HP:0004378	Abnormality of the anus	8195	MKKS	OMIM:236700
HP:0004378	Abnormality of the anus	8195	MKKS	ORPHA:2473
HP:0004378	Abnormality of the anus	145173	B3GLCT	ORPHA:709
HP:0004378	Abnormality of the anus	6650	CAPN15	OMIM:619318
HP:0004378	Abnormality of the anus	1131	CHRM3	ORPHA:2970
HP:0004378	Abnormality of the anus	1131	CHRM3	OMIM:100100
HP:0004378	Abnormality of the anus	7473	WNT3	ORPHA:3301
HP:0004378	Abnormality of the anus	7473	WNT3	OMIM:273395
HP:0004378	Abnormality of the anus	340419	RSPO2	ORPHA:3301
HP:0004378	Abnormality of the anus	81839	VANGL1	ORPHA:3027
HP:0004378	Abnormality of the anus	80199	FUZ	ORPHA:3027
HP:0004378	Abnormality of the anus	10084	PQBP1	ORPHA:93950
HP:0004378	Abnormality of the anus	10084	PQBP1	OMIM:309500
HP:0004378	Abnormality of the anus	197131	UBR1	OMIM:243800
HP:0004378	Abnormality of the anus	197131	UBR1	ORPHA:2315
HP:0004378	Abnormality of the anus	267010	RNU12	OMIM:603116
HP:0004378	Abnormality of the anus	55112	DYNC2I1	ORPHA:93271
HP:0004378	Abnormality of the anus	57560	IFT80	ORPHA:93271
HP:0004378	Abnormality of the anus	57539	WDR35	ORPHA:93271
HP:0004378	Abnormality of the anus	79659	DYNC2H1	ORPHA:93271
HP:0004378	Abnormality of the anus	79659	DYNC2H1	OMIM:613091
HP:0004378	Abnormality of the anus	89891	DYNC2I2	ORPHA:93271
HP:0004378	Abnormality of the anus	4281	MID1	OMIM:300000
HP:0004378	Abnormality of the anus	4281	MID1	ORPHA:2745
HP:0004378	Abnormality of the anus	374654	KIF7	OMIM:200990
HP:0004378	Abnormality of the anus	2623	GATA1	OMIM:190685
HP:0004378	Abnormality of the anus	3313	HSPA9	OMIM:616854
HP:0004378	Abnormality of the anus	2137	EXTL3	OMIM:617425
HP:0004378	Abnormality of the anus	999	CDH1	OMIM:119580
HP:0004378	Abnormality of the anus	999	CDH1	ORPHA:1997
HP:0004378	Abnormality of the anus	29954	POMT2	OMIM:236670
HP:0004378	Abnormality of the anus	9215	LARGE1	OMIM:236670
HP:0004378	Abnormality of the anus	79147	FKRP	OMIM:236670
HP:0004378	Abnormality of the anus	10585	POMT1	OMIM:236670
HP:0004378	Abnormality of the anus	2218	FKTN	OMIM:236670
HP:0004378	Abnormality of the anus	2187	FANCB	ORPHA:3412
HP:0004378	Abnormality of the anus	2187	FANCB	ORPHA:84
HP:0004378	Abnormality of the anus	2187	FANCB	OMIM:314390
HP:0004378	Abnormality of the anus	1500	CTNND1	ORPHA:1997
HP:0004378	Abnormality of the anus	7547	ZIC3	OMIM:306955
HP:0004378	Abnormality of the anus	7547	ZIC3	OMIM:314390
HP:0004378	Abnormality of the anus	4072	EPCAM	ORPHA:92050
HP:0004378	Abnormality of the anus	105371045	PERCC1	ORPHA:92050
HP:0004378	Abnormality of the anus	2263	FGFR2	ORPHA:93260
HP:0004378	Abnormality of the anus	2263	FGFR2	ORPHA:93259
HP:0004378	Abnormality of the anus	9401	RECQL4	ORPHA:1225
HP:0004378	Abnormality of the anus	9401	RECQL4	OMIM:218600
HP:0004378	Abnormality of the anus	672	BRCA1	ORPHA:84
HP:0004378	Abnormality of the anus	10459	MAD2L2	ORPHA:84
HP:0004378	Abnormality of the anus	7516	XRCC2	ORPHA:84
HP:0004378	Abnormality of the anus	29089	UBE2T	ORPHA:84
HP:0004378	Abnormality of the anus	675	BRCA2	ORPHA:84
HP:0004378	Abnormality of the anus	675	BRCA2	OMIM:605724
HP:0004378	Abnormality of the anus	55120	FANCL	ORPHA:84
HP:0004378	Abnormality of the anus	55120	FANCL	OMIM:614083
HP:0004378	Abnormality of the anus	2177	FANCD2	ORPHA:84
HP:0004378	Abnormality of the anus	2175	FANCA	ORPHA:84
HP:0004378	Abnormality of the anus	2176	FANCC	ORPHA:84
HP:0004378	Abnormality of the anus	2178	FANCE	ORPHA:84
HP:0004378	Abnormality of the anus	2188	FANCF	ORPHA:84
HP:0004378	Abnormality of the anus	2189	FANCG	ORPHA:84
HP:0004378	Abnormality of the anus	5888	RAD51	ORPHA:84
HP:0004378	Abnormality of the anus	5888	RAD51	OMIM:617244
HP:0004378	Abnormality of the anus	5889	RAD51C	ORPHA:84
HP:0004378	Abnormality of the anus	5889	RAD51C	OMIM:613390
HP:0004378	Abnormality of the anus	55159	RFWD3	ORPHA:84
HP:0004378	Abnormality of the anus	83990	BRIP1	ORPHA:84
HP:0004378	Abnormality of the anus	57697	FANCM	ORPHA:84
HP:0004378	Abnormality of the anus	79728	PALB2	ORPHA:84
HP:0004378	Abnormality of the anus	84464	SLX4	ORPHA:84
HP:0004378	Abnormality of the anus	2072	ERCC4	ORPHA:84
HP:0004378	Abnormality of the anus	55215	FANCI	ORPHA:84
HP:0004378	Abnormality of the anus	1312	COMT	ORPHA:567
HP:0004378	Abnormality of the anus	221037	JMJD1C	ORPHA:567
HP:0004378	Abnormality of the anus	2812	GP1BB	ORPHA:567
HP:0004378	Abnormality of the anus	6239	RREB1	ORPHA:567
HP:0004378	Abnormality of the anus	6899	TBX1	ORPHA:567
HP:0004378	Abnormality of the anus	7290	HIRA	ORPHA:567
HP:0004378	Abnormality of the anus	9632	SEC24C	ORPHA:567
HP:0004378	Abnormality of the anus	7353	UFD1	ORPHA:567
HP:0004378	Abnormality of the anus	421	ARVCF	ORPHA:567
HP:0004378	Abnormality of the anus	25942	SIN3A	ORPHA:94065
HP:0004378	Abnormality of the anus	25	ABL1	OMIM:617602
HP:0004378	Abnormality of the anus	23065	EMC1	OMIM:616875
HP:0004378	Abnormality of the anus	23065	EMC1	ORPHA:480898
HP:0004378	Abnormality of the anus	55012	PPP2R3C	OMIM:618419
HP:0004378	Abnormality of the anus	23495	TNFRSF13B	ORPHA:1572
HP:0004378	Abnormality of the anus	4790	NFKB1	ORPHA:1572
HP:0004378	Abnormality of the anus	4791	NFKB2	ORPHA:1572
HP:0004378	Abnormality of the anus	115650	TNFRSF13C	ORPHA:1572
HP:0004378	Abnormality of the anus	1380	CR2	ORPHA:1572
HP:0004378	Abnormality of the anus	8742	TNFSF12	ORPHA:1572
HP:0004378	Abnormality of the anus	5580	PRKCD	ORPHA:1572
HP:0004378	Abnormality of the anus	930	CD19	ORPHA:1572
HP:0004378	Abnormality of the anus	29851	ICOS	ORPHA:1572
HP:0004378	Abnormality of the anus	931	MS4A1	ORPHA:1572
HP:0004378	Abnormality of the anus	975	CD81	ORPHA:1572
HP:0004378	Abnormality of the anus	359948	IRF2BP2	ORPHA:1572
HP:0004378	Abnormality of the anus	10046	MAMLD1	ORPHA:95706
HP:0004378	Abnormality of the anus	367	AR	ORPHA:95706
HP:0004378	Abnormality of the anus	6862	TBXT	OMIM:615709
HP:0004378	Abnormality of the anus	4613	MYCN	ORPHA:391641
HP:0004378	Abnormality of the anus	8260	NAA10	OMIM:309800
HP:0004378	Abnormality of the anus	54880	BCOR	OMIM:309800
HP:0004378	Abnormality of the anus	55773	TBC1D23	OMIM:617695
HP:0004378	Abnormality of the anus	92002	CCNQ	OMIM:300707
HP:0004378	Abnormality of the anus	92002	CCNQ	ORPHA:140952
HP:0004378	Abnormality of the anus	8239	USP9X	ORPHA:480880
HP:0004378	Abnormality of the anus	8239	USP9X	OMIM:300968
HP:0004378	Abnormality of the anus	10653	SPINT2	OMIM:270420
HP:0004378	Abnormality of the anus	79228	THOC6	ORPHA:363444
HP:0004378	Abnormality of the anus	79813	EHMT1	ORPHA:261652
HP:0004378	Abnormality of the anus	58508	KMT2C	ORPHA:261652
HP:0004378	Abnormality of the anus	51339	DACT1	OMIM:617466
HP:0004378	Abnormality of the anus	51339	DACT1	ORPHA:857
HP:0004378	Abnormality of the anus	51339	DACT1	ORPHA:63260
HP:0004378	Abnormality of the anus	23112	TNRC6B	OMIM:619243
HP:0004378	Abnormality of the anus	7291	TWIST1	OMIM:617746
HP:0004378	Abnormality of the anus	9897	WASHC5	OMIM:220210
HP:0004378	Abnormality of the anus	9897	WASHC5	ORPHA:7
HP:0004378	Abnormality of the anus	153241	CEP120	OMIM:616300
HP:0004378	Abnormality of the anus	7476	WNT7A	ORPHA:2879
HP:0004378	Abnormality of the anus	1807	DPYS	OMIM:222748
HP:0004378	Abnormality of the anus	26123	TCTN3	ORPHA:2753
HP:0004378	Abnormality of the anus	3239	HOXD13	ORPHA:887
HP:0004378	Abnormality of the anus	28952	CCDC22	ORPHA:7
HP:0004378	Abnormality of the anus	51733	UPB1	OMIM:613161
HP:0004378	Abnormality of the anus	54903	MKS1	OMIM:249000
HP:0004378	Abnormality of the anus	9573	GDF3	ORPHA:2345
HP:0004378	Abnormality of the anus	392255	GDF6	ORPHA:2345
HP:0004378	Abnormality of the anus	4222	MEOX1	ORPHA:2345
HP:0004378	Abnormality of the anus	27152	INTU	OMIM:617925
HP:0004378	Abnormality of the anus	2719	GPC3	OMIM:312870
HP:0004378	Abnormality of the anus	2239	GPC4	OMIM:312870
HP:0004378	Abnormality of the anus	139285	AMER1	OMIM:300373
HP:0004378	Abnormality of the anus	3981	LIG4	ORPHA:235
HP:0004378	Abnormality of the anus	54888	NSUN2	ORPHA:235
HP:0004378	Abnormality of the anus	23556	PIGN	OMIM:614080
HP:0004378	Abnormality of the anus	23556	PIGN	ORPHA:280633
HP:0004378	Abnormality of the anus	341640	FREM2	ORPHA:2052
HP:0004378	Abnormality of the anus	80144	FRAS1	ORPHA:2052
HP:0004378	Abnormality of the anus	23426	GRIP1	ORPHA:2052
HP:0004378	Abnormality of the anus	6628	SNRPB	OMIM:117650
HP:0004378	Abnormality of the anus	6608	SMO	OMIM:601707
HP:0004378	Abnormality of the anus	4683	NBN	OMIM:251260
HP:0004378	Abnormality of the anus	4683	NBN	ORPHA:647
HP:0004378	Abnormality of the anus	23522	KAT6B	OMIM:606170
HP:0004378	Abnormality of the anus	6023	RMRP	OMIM:250250
HP:0004378	Abnormality of the anus	775	CACNA1C	OMIM:620029
HP:0004378	Abnormality of the anus	27315	PGAP2	OMIM:614207
HP:0004378	Abnormality of the anus	158326	FREM1	ORPHA:2717
HP:0004378	Abnormality of the anus	158326	FREM1	ORPHA:217266
HP:0004378	Abnormality of the anus	158326	FREM1	OMIM:248450
HP:0004378	Abnormality of the anus	84720	PIGO	OMIM:614749
HP:0004378	Abnormality of the anus	5308	PITX2	OMIM:180500
HP:0004378	Abnormality of the anus	5308	PITX2	ORPHA:782
HP:0004378	Abnormality of the anus	3110	MNX1	OMIM:176450
HP:0004378	Abnormality of the anus	57167	SALL4	OMIM:607323
HP:0004378	Abnormality of the anus	8626	TP63	OMIM:604292
HP:0004378	Abnormality of the anus	1009	CDH11	OMIM:211380
HP:0004378	Abnormality of the anus	2296	FOXC1	ORPHA:782
HP:0004378	Abnormality of the anus	6299	SALL1	OMIM:107480
HP:0004378	Abnormality of the anus	6926	TBX3	OMIM:181450
HP:0004378	Abnormality of the anus	8318	CDC45	OMIM:617063
HP:0004378	Abnormality of the anus	54101	RIPK4	OMIM:263650
HP:0004378	Abnormality of the anus	84667	HES7	OMIM:613686
HP:0004378	Abnormality of the anus	55612	FERMT1	OMIM:173650
HP:0004378	Abnormality of the anus	55636	CHD7	OMIM:214800
HP:0004378	Abnormality of the anus	79633	FAT4	ORPHA:314679
HP:0004378	Abnormality of the anus	8642	DCHS1	ORPHA:314679
HP:0004378	Abnormality of the anus	9968	MED12	OMIM:305450
HP:0004378	Abnormality of the anus	8085	KMT2D	OMIM:147920
HP:0004378	Abnormality of the anus	7403	KDM6A	OMIM:147920
HP:0004378	Abnormality of the anus	5590	PRKCZ	ORPHA:1606
HP:0004378	Abnormality of the anus	2563	GABRD	ORPHA:1606
HP:0004378	Abnormality of the anus	23013	SPEN	ORPHA:1606
HP:0004378	Abnormality of the anus	8510	MMP23B	ORPHA:1606
HP:0004378	Abnormality of the anus	7798	LUZP1	ORPHA:1606
HP:0004378	Abnormality of the anus	6497	SKI	ORPHA:1606
HP:0004378	Abnormality of the anus	10630	PDPN	ORPHA:1606
HP:0004378	Abnormality of the anus	3339	HSPG2	ORPHA:1606
HP:0004378	Abnormality of the anus	10277	UBE4B	ORPHA:1606
HP:0004378	Abnormality of the anus	8514	KCNAB2	ORPHA:1606
HP:0004378	Abnormality of the anus	473	RERE	ORPHA:1606
HP:0004378	Abnormality of the anus	63976	PRDM16	ORPHA:1606
HP:0004378	Abnormality of the anus	54897	CASZ1	ORPHA:1606
HP:0004378	Abnormality of the anus	10225	CD96	ORPHA:1308
HP:0004378	Abnormality of the anus	2313	FLI1	ORPHA:2308
HP:0004378	Abnormality of the anus	3670	ISL1	ORPHA:93930
HP:0004378	Abnormality of the anus	54539	NDUFB11	ORPHA:2556
HP:0004378	Abnormality of the anus	1349	COX7B	ORPHA:2556
HP:0004378	Abnormality of the anus	3052	HCCS	ORPHA:2556
HP:0004378	Abnormality of the anus	64359	NXN	ORPHA:1507
HP:0004378	Abnormality of the anus	4920	ROR2	ORPHA:1507
HP:0004378	Abnormality of the anus	488	ATP2A2	ORPHA:218
HP:0004378	Abnormality of the anus	1736	DKC1	OMIM:305000
HP:0004378	Abnormality of the anus	6850	SYK	OMIM:619381
HP:0004378	Abnormality of the anus	4689	NCF4	OMIM:613960
HP:0004378	Abnormality of the anus	917	CD3G	OMIM:615607
HP:0004378	Abnormality of the anus	5317	PKP1	ORPHA:158668
HP:0004378	Abnormality of the anus	81704	DOCK8	ORPHA:217390
HP:0004378	Abnormality of the anus	2000	ELF4	OMIM:301074
HP:0004378	Abnormality of the anus	7040	TGFB1	OMIM:618213
HP:0004378	Abnormality of the anus	92579	G6PC3	OMIM:612541
HP:0004378	Abnormality of the anus	3587	IL10RA	OMIM:613148
HP:0004378	Abnormality of the anus	22806	IKZF3	OMIM:619437
HP:0004378	Abnormality of the anus	3588	IL10RB	OMIM:612567
HP:0004378	Abnormality of the anus	8737	RIPK1	OMIM:618108
HP:0004378	Abnormality of the anus	1991	ELANE	ORPHA:2686
HP:0004378	Abnormality of the anus	6868	ADAM17	ORPHA:294023
HP:0004378	Abnormality of the anus	1956	EGFR	ORPHA:294023
HP:0004378	Abnormality of the anus	50619	DEF6	OMIM:619573
HP:0004378	Abnormality of the anus	79415	CYBC1	OMIM:618935
HP:0004378	Abnormality of the anus	4312	MMP1	ORPHA:79408
HP:0004378	Abnormality of the anus	1294	COL7A1	ORPHA:79408
HP:0004378	Abnormality of the anus	1294	COL7A1	ORPHA:89842
HP:0004378	Abnormality of the anus	56983	POGLUT1	ORPHA:79145
HP:0004378	Abnormality of the anus	3852	KRT5	ORPHA:79145
HP:0004378	Abnormality of the anus	23509	POFUT1	ORPHA:79145
HP:0004378	Abnormality of the anus	55851	PSENEN	ORPHA:79145
HP:0004379	Abnormality of alkaline phosphatase level	171023	ASXL1	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	54790	TET2	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	867	CBL	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	861	RUNX1	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	6427	SRSF2	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	9488	PIGB	OMIM:618580
HP:0004379	Abnormality of alkaline phosphatase level	3376	IARS1	OMIM:617093
HP:0004379	Abnormality of alkaline phosphatase level	79705	LRRK1	OMIM:615198
HP:0004379	Abnormality of alkaline phosphatase level	55503	TRPV6	OMIM:618188
HP:0004379	Abnormality of alkaline phosphatase level	10312	TCIRG1	OMIM:259700
HP:0004379	Abnormality of alkaline phosphatase level	10312	TCIRG1	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	5279	PIGC	OMIM:617816
HP:0004379	Abnormality of alkaline phosphatase level	5314	PKHD1	ORPHA:53035
HP:0004379	Abnormality of alkaline phosphatase level	9420	CYP7B1	ORPHA:79302
HP:0004379	Abnormality of alkaline phosphatase level	9420	CYP7B1	OMIM:613812
HP:0004379	Abnormality of alkaline phosphatase level	7157	TP53	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	5925	RB1	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	11200	CHEK2	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	6718	AKR1D1	ORPHA:79303
HP:0004379	Abnormality of alkaline phosphatase level	6718	AKR1D1	OMIM:235555
HP:0004379	Abnormality of alkaline phosphatase level	5745	PTH1R	OMIM:600002
HP:0004379	Abnormality of alkaline phosphatase level	5745	PTH1R	OMIM:156400
HP:0004379	Abnormality of alkaline phosphatase level	128869	PIGU	OMIM:618590
HP:0004379	Abnormality of alkaline phosphatase level	10165	SLC25A13	OMIM:605814
HP:0004379	Abnormality of alkaline phosphatase level	10165	SLC25A13	ORPHA:247598
HP:0004379	Abnormality of alkaline phosphatase level	6514	SLC2A2	OMIM:227810
HP:0004379	Abnormality of alkaline phosphatase level	6514	SLC2A2	ORPHA:2088
HP:0004379	Abnormality of alkaline phosphatase level	8792	TNFRSF11A	OMIM:174810
HP:0004379	Abnormality of alkaline phosphatase level	8792	TNFRSF11A	OMIM:602080
HP:0004379	Abnormality of alkaline phosphatase level	5244	ABCB4	OMIM:600803
HP:0004379	Abnormality of alkaline phosphatase level	5244	ABCB4	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	10026	PIGK	OMIM:618879
HP:0004379	Abnormality of alkaline phosphatase level	55650	PIGV	OMIM:239300
HP:0004379	Abnormality of alkaline phosphatase level	55650	PIGV	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	56975	FAM20C	OMIM:259775
HP:0004379	Abnormality of alkaline phosphatase level	5251	PHEX	OMIM:307800
HP:0004379	Abnormality of alkaline phosphatase level	5251	PHEX	ORPHA:89936
HP:0004379	Abnormality of alkaline phosphatase level	90	ACVR1	OMIM:135100
HP:0004379	Abnormality of alkaline phosphatase level	25839	COG4	ORPHA:263501
HP:0004379	Abnormality of alkaline phosphatase level	25839	COG4	OMIM:613489
HP:0004379	Abnormality of alkaline phosphatase level	84992	PIGY	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	84992	PIGY	OMIM:616809
HP:0004379	Abnormality of alkaline phosphatase level	84720	PIGO	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	84720	PIGO	OMIM:614749
HP:0004379	Abnormality of alkaline phosphatase level	93210	PGAP3	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	93210	PGAP3	OMIM:615716
HP:0004379	Abnormality of alkaline phosphatase level	284098	PIGW	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	284098	PIGW	OMIM:616025
HP:0004379	Abnormality of alkaline phosphatase level	27315	PGAP2	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	27315	PGAP2	OMIM:614207
HP:0004379	Abnormality of alkaline phosphatase level	9487	PIGL	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	9487	PIGL	OMIM:280000
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	OMIM:601847
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	OMIM:605479
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	3930	LBR	OMIM:613471
HP:0004379	Abnormality of alkaline phosphatase level	7019	TFAM	OMIM:617156
HP:0004379	Abnormality of alkaline phosphatase level	4982	TNFRSF11B	OMIM:239000
HP:0004379	Abnormality of alkaline phosphatase level	3172	HNF4A	ORPHA:263455
HP:0004379	Abnormality of alkaline phosphatase level	3172	HNF4A	OMIM:616026
HP:0004379	Abnormality of alkaline phosphatase level	5277	PIGA	OMIM:300868
HP:0004379	Abnormality of alkaline phosphatase level	57511	COG6	OMIM:614576
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	OMIM:615424
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	OMIM:615426
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase level	7421	VDR	OMIM:277440
HP:0004379	Abnormality of alkaline phosphatase level	3181	HNRNPA2B1	OMIM:615422
HP:0004379	Abnormality of alkaline phosphatase level	3181	HNRNPA2B1	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase level	54872	PIGG	OMIM:616917
HP:0004379	Abnormality of alkaline phosphatase level	1576	CYP3A4	OMIM:619073
HP:0004379	Abnormality of alkaline phosphatase level	1186	CLCN7	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	9842	PLEKHM1	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	8074	FGF23	ORPHA:89937
HP:0004379	Abnormality of alkaline phosphatase level	8074	FGF23	OMIM:193100
HP:0004379	Abnormality of alkaline phosphatase level	5311	PKD2	OMIM:613095
HP:0004379	Abnormality of alkaline phosphatase level	57003	CCDC47	OMIM:618268
HP:0004379	Abnormality of alkaline phosphatase level	94005	PIGS	OMIM:618143
HP:0004379	Abnormality of alkaline phosphatase level	5828	PEX2	OMIM:614866
HP:0004379	Abnormality of alkaline phosphatase level	9091	PIGQ	OMIM:618548
HP:0004379	Abnormality of alkaline phosphatase level	5589	PRKCSH	OMIM:174050
HP:0004379	Abnormality of alkaline phosphatase level	3594	IL12RB1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	23534	TNPO3	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	3592	IL12A	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	6689	SPIB	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	5450	POU2AF1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	9966	TNFSF15	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	79258	MMEL1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	3663	IRF5	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	8733	GPAA1	ORPHA:529665
HP:0004379	Abnormality of alkaline phosphatase level	2628	GATM	OMIM:134600
HP:0004379	Abnormality of alkaline phosphatase level	200931	SLC51A	OMIM:619484
HP:0004379	Abnormality of alkaline phosphatase level	5205	ATP8B1	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	9971	NR1H4	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	8878	SQSTM1	OMIM:167250
HP:0004379	Abnormality of alkaline phosphatase level	51473	DCDC2	ORPHA:84081
HP:0004379	Abnormality of alkaline phosphatase level	91147	TMEM67	ORPHA:84081
HP:0004379	Abnormality of alkaline phosphatase level	2542	SLC37A4	OMIM:619525
HP:0004379	Abnormality of alkaline phosphatase level	617	BCS1L	OMIM:124000
HP:0004379	Abnormality of alkaline phosphatase level	50964	SOST	OMIM:122860
HP:0004379	Abnormality of alkaline phosphatase level	23387	SIK3	OMIM:618162
HP:0004379	Abnormality of alkaline phosphatase level	79989	IFT56	OMIM:619534
HP:0004379	Abnormality of alkaline phosphatase level	5557	PRIM1	OMIM:620005
HP:0004379	Abnormality of alkaline phosphatase level	54532	USP53	OMIM:619658
HP:0004379	Abnormality of alkaline phosphatase level	63916	ELMO2	OMIM:606893
HP:0004379	Abnormality of alkaline phosphatase level	147007	TMEM199	OMIM:616829
HP:0004379	Abnormality of alkaline phosphatase level	6522	SLC4A2	OMIM:620366
HP:0004379	Abnormality of alkaline phosphatase level	166929	SGMS2	OMIM:126550
HP:0004379	Abnormality of alkaline phosphatase level	60681	FKBP10	OMIM:610968
HP:0004379	Abnormality of alkaline phosphatase level	11277	TREX1	ORPHA:247691
HP:0004379	Abnormality of alkaline phosphatase level	113220	KIF12	OMIM:619662
HP:0004379	Abnormality of alkaline phosphatase level	57592	ZNF687	OMIM:616833
HP:0004379	Abnormality of alkaline phosphatase level	6309	SC5D	OMIM:607330
HP:0004379	Abnormality of alkaline phosphatase level	3988	LIPA	OMIM:278000
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:146300
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:241500
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:241510
HP:0004379	Abnormality of alkaline phosphatase level	55630	SLC39A4	OMIM:201100
HP:0004379	Abnormality of alkaline phosphatase level	497661	C18orf32	OMIM:619985
HP:0004379	Abnormality of alkaline phosphatase level	51604	PIGT	ORPHA:369837
HP:0004379	Abnormality of alkaline phosphatase level	633	BGN	OMIM:300106
HP:0004379	Abnormality of alkaline phosphatase level	6452	SH3BP2	OMIM:118400
HP:0004379	Abnormality of alkaline phosphatase level	5281	PIGF	OMIM:619356
HP:0004379	Abnormality of alkaline phosphatase level	5283	PIGH	OMIM:618010
HP:0004379	Abnormality of alkaline phosphatase level	6928	HNF1B	OMIM:137920
HP:0004379	Abnormality of alkaline phosphatase level	25	ABL1	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase level	613	BCR	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase level	1441	CSF3R	OMIM:162830
HP:0004379	Abnormality of alkaline phosphatase level	2859	GPR35	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	10507	SEMA4D	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	4485	MST1	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	6925	TCF4	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	4883	NPR3	OMIM:619543
HP:0004379	Abnormality of alkaline phosphatase level	142680	SLC34A3	ORPHA:157215
HP:0004379	Abnormality of alkaline phosphatase level	6569	SLC34A1	ORPHA:157215
HP:0004379	Abnormality of alkaline phosphatase level	1758	DMP1	ORPHA:289176
HP:0004379	Abnormality of alkaline phosphatase level	5167	ENPP1	ORPHA:289176
HP:0004379	Abnormality of alkaline phosphatase level	5167	ENPP1	ORPHA:51608
HP:0004379	Abnormality of alkaline phosphatase level	368	ABCC6	ORPHA:51608
HP:0004379	Abnormality of alkaline phosphatase level	1594	CYP27B1	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase level	120227	CYP2R1	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase level	2099	ESR1	OMIM:615363
HP:0004379	Abnormality of alkaline phosphatase level	4882	NPR2	OMIM:615923
HP:0004379	Abnormality of alkaline phosphatase level	1497	CTNS	ORPHA:411634
HP:0004379	Abnormality of alkaline phosphatase level	7415	VCP	OMIM:167320
HP:0004379	Abnormality of alkaline phosphatase level	84317	CCDC115	OMIM:616828
HP:0004379	Abnormality of alkaline phosphatase level	1053	CEBPE	OMIM:245480
HP:0030226	Abnormal muscle fiber myotilin	9499	MYOT	ORPHA:98911
HP:0030225	Accumulation of muscle fiber desmin	1410	CRYAB	ORPHA:399058
HP:0030224	Abnormal muscle fiber desmin	1410	CRYAB	ORPHA:399058
HP:0030223	Manifestations of perseverative thought or action	51204	TACO1	OMIM:619052
HP:0030223	Manifestations of perseverative thought or action	5621	PRNP	ORPHA:280397
HP:0030223	Manifestations of perseverative thought or action	5621	PRNP	OMIM:137440
HP:0030223	Manifestations of perseverative thought or action	10577	NPC2	OMIM:607625
HP:0030223	Manifestations of perseverative thought or action	4841	NONO	OMIM:300967
HP:0030223	Manifestations of perseverative thought or action	4137	MAPT	OMIM:172700
HP:0030223	Manifestations of perseverative thought or action	4137	MAPT	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	4137	MAPT	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	5663	PSEN1	OMIM:172700
HP:0030223	Manifestations of perseverative thought or action	5663	PSEN1	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	5663	PSEN1	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	23152	CIC	OMIM:617600
HP:0030223	Manifestations of perseverative thought or action	7874	USP7	OMIM:616863
HP:0030223	Manifestations of perseverative thought or action	23435	TARDBP	OMIM:612069
HP:0030223	Manifestations of perseverative thought or action	23435	TARDBP	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	25978	CHMP2B	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	25978	CHMP2B	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	2896	GRN	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	2896	GRN	OMIM:607485
HP:0030223	Manifestations of perseverative thought or action	2896	GRN	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	54664	TMEM106B	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	54664	TMEM106B	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	8878	SQSTM1	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	8878	SQSTM1	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	54209	TREM2	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	54209	TREM2	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	7415	VCP	ORPHA:275864
HP:0030223	Manifestations of perseverative thought or action	7415	VCP	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	7415	VCP	ORPHA:100070
HP:0030223	Manifestations of perseverative thought or action	7274	TTPA	OMIM:277460
HP:0030223	Manifestations of perseverative thought or action	2521	FUS	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	29110	TBK1	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	400916	CHCHD10	ORPHA:275872
HP:0030223	Manifestations of perseverative thought or action	4854	NOTCH3	OMIM:125310
HP:0030222	Visual agnosia	25978	CHMP2B	ORPHA:100069
HP:0030222	Visual agnosia	5663	PSEN1	ORPHA:100069
HP:0030222	Visual agnosia	2896	GRN	ORPHA:100069
HP:0030222	Visual agnosia	54664	TMEM106B	ORPHA:100069
HP:0030222	Visual agnosia	4137	MAPT	ORPHA:100069
HP:0030222	Visual agnosia	54209	TREM2	ORPHA:100069
HP:0030222	Visual agnosia	387119	CEP85L	OMIM:618873
HP:0030222	Visual agnosia	215	ABCD1	ORPHA:139396
HP:0030230	Central core regions in muscle fibers	6261	RYR1	ORPHA:597
HP:0030230	Central core regions in muscle fibers	6261	RYR1	OMIM:117000
HP:0030230	Central core regions in muscle fibers	79912	PYROXD1	OMIM:617258
HP:0030230	Central core regions in muscle fibers	10367	MICU1	ORPHA:401768
HP:0004381	Supravalvular aortic stenosis	3949	LDLR	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	255738	PCSK9	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	26119	LDLRAP1	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	338	APOB	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	64240	ABCG5	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	64241	ABCG8	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	2006	ELN	OMIM:185500
HP:0004381	Supravalvular aortic stenosis	2006	ELN	ORPHA:3193
HP:0004381	Supravalvular aortic stenosis	2006	ELN	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2006	ELN	OMIM:194050
HP:0004381	Supravalvular aortic stenosis	4052	LTBP1	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	30008	EFEMP2	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5	OMIM:219100
HP:0004381	Supravalvular aortic stenosis	6804	STX1A	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	7461	CLIP2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	84277	DNAJC30	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	8468	FKBP6	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	5982	RFC2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2969	GTF2I	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	3984	LIMK1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	9569	GTF2IRD1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	155382	VPS37D	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	155368	METTL27	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	114049	BUD23	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	7458	EIF4H	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	84163	GTF2IRD2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	9275	BCL7B	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	26608	TBL2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	653361	NCF1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	135886	TMEM270	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	51085	MLXIPL	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	51085	MLXIPL	OMIM:194050
HP:0004381	Supravalvular aortic stenosis	9031	BAZ1B	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	22800	RRAS2	OMIM:618624
HP:0004381	Supravalvular aortic stenosis	85440	DOCK7	OMIM:615859
HP:0004383	Hypoplastic left heart	2294	FOXF1	OMIM:265380
HP:0004383	Hypoplastic left heart	2294	FOXF1	ORPHA:210122
HP:0004383	Hypoplastic left heart	7490	WT1	OMIM:608978
HP:0004383	Hypoplastic left heart	7490	WT1	ORPHA:3097
HP:0004383	Hypoplastic left heart	10735	STAG2	OMIM:301043
HP:0004383	Hypoplastic left heart	10735	STAG2	OMIM:301022
HP:0004383	Hypoplastic left heart	6910	TBX5	ORPHA:392
HP:0004383	Hypoplastic left heart	6910	TBX5	OMIM:142900
HP:0004383	Hypoplastic left heart	65250	CPLANE1	OMIM:277170
HP:0004383	Hypoplastic left heart	7026	NR2F2	OMIM:618901
HP:0004383	Hypoplastic left heart	7026	NR2F2	OMIM:615779
HP:0004383	Hypoplastic left heart	1387	CREBBP	OMIM:180849
HP:0004383	Hypoplastic left heart	2033	EP300	OMIM:180849
HP:0004383	Hypoplastic left heart	11020	IFT27	OMIM:615996
HP:0004383	Hypoplastic left heart	1024	CDK8	OMIM:618748
HP:0004383	Hypoplastic left heart	57514	ARHGAP31	OMIM:100300
HP:0004383	Hypoplastic left heart	145173	B3GLCT	ORPHA:709
HP:0004383	Hypoplastic left heart	6899	TBX1	ORPHA:1727
HP:0004383	Hypoplastic left heart	8405	SPOP	OMIM:618829
HP:0004383	Hypoplastic left heart	1837	DTNA	OMIM:604169
HP:0004383	Hypoplastic left heart	23498	HAAO	OMIM:617660
HP:0004383	Hypoplastic left heart	3021	H3-3B	OMIM:619721
HP:0004383	Hypoplastic left heart	2627	GATA6	OMIM:614474
HP:0004383	Hypoplastic left heart	219854	TMEM218	OMIM:619562
HP:0004383	Hypoplastic left heart	8942	KYNU	OMIM:617661
HP:0004383	Hypoplastic left heart	2697	GJA1	ORPHA:2248
HP:0004383	Hypoplastic left heart	1482	NKX2-5	ORPHA:2248
HP:0004383	Hypoplastic left heart	1482	NKX2-5	OMIM:614435
HP:0004383	Hypoplastic left heart	1482	NKX2-5	ORPHA:402075
HP:0004383	Hypoplastic left heart	55784	MCTP2	ORPHA:1596
HP:0004383	Hypoplastic left heart	4851	NOTCH1	ORPHA:402075
HP:0004383	Hypoplastic left heart	140628	GATA5	ORPHA:402075
HP:0004383	Hypoplastic left heart	4091	SMAD6	ORPHA:402075
HP:0004383	Hypoplastic left heart	5053	PAH	ORPHA:2209
HP:0004383	Hypoplastic left heart	745	MYRF	OMIM:618280
HP:0004383	Hypoplastic left heart	7547	ZIC3	OMIM:306955
HP:0004383	Hypoplastic left heart	9897	WASHC5	OMIM:220210
HP:0004383	Hypoplastic left heart	9897	WASHC5	ORPHA:7
HP:0004383	Hypoplastic left heart	84231	TRAF7	OMIM:618164
HP:0004383	Hypoplastic left heart	8195	MKKS	ORPHA:2473
HP:0004383	Hypoplastic left heart	55191	NADSYN1	OMIM:618845
HP:0004383	Hypoplastic left heart	2626	GATA4	ORPHA:251071
HP:0004383	Hypoplastic left heart	28952	CCDC22	ORPHA:7
HP:0004383	Hypoplastic left heart	51117	COQ4	OMIM:616276
HP:0004383	Hypoplastic left heart	168507	PKD1L1	OMIM:617205
HP:0004383	Hypoplastic left heart	220136	CFAP53	OMIM:614779
HP:0004383	Hypoplastic left heart	2783	GNB2	OMIM:619503
HP:0004383	Hypoplastic left heart	100128908	CIROP	OMIM:619702
HP:0004383	Hypoplastic left heart	2313	FLI1	ORPHA:2308
HP:0004385	Protracted diarrhea	1616	DAXX	ORPHA:100075
HP:0004385	Protracted diarrhea	546	ATRX	ORPHA:100075
HP:0004385	Protracted diarrhea	915	CD3D	ORPHA:169160
HP:0004385	Protracted diarrhea	916	CD3E	ORPHA:169160
HP:0004385	Protracted diarrhea	919	CD247	ORPHA:169160
HP:0004385	Protracted diarrhea	919	CD247	OMIM:610163
HP:0004385	Protracted diarrhea	5994	RFXAP	ORPHA:572
HP:0004385	Protracted diarrhea	5994	RFXAP	OMIM:209920
HP:0004385	Protracted diarrhea	4261	CIITA	ORPHA:572
HP:0004385	Protracted diarrhea	4261	CIITA	OMIM:209920
HP:0004385	Protracted diarrhea	5993	RFX5	ORPHA:572
HP:0004385	Protracted diarrhea	5993	RFX5	OMIM:209920
HP:0004385	Protracted diarrhea	8625	RFXANK	ORPHA:572
HP:0004385	Protracted diarrhea	8625	RFXANK	OMIM:209920
HP:0004385	Protracted diarrhea	5896	RAG1	ORPHA:331206
HP:0004385	Protracted diarrhea	5897	RAG2	ORPHA:331206
HP:0004385	Protracted diarrhea	3932	LCK	OMIM:615758
HP:0004385	Protracted diarrhea	6392	SDHD	ORPHA:100093
HP:0004385	Protracted diarrhea	4645	MYO5B	OMIM:251850
HP:0004386	Gastrointestinal inflammation	2165	F13B	ORPHA:331
HP:0004386	Gastrointestinal inflammation	2162	F13A1	ORPHA:331
HP:0004386	Gastrointestinal inflammation	3123	HLA-DRB1	OMIM:181000
HP:0004386	Gastrointestinal inflammation	7454	WAS	OMIM:301000
HP:0004386	Gastrointestinal inflammation	7454	WAS	ORPHA:906
HP:0004386	Gastrointestinal inflammation	55612	FERMT1	ORPHA:2908
HP:0004386	Gastrointestinal inflammation	331	XIAP	OMIM:300635
HP:0004386	Gastrointestinal inflammation	10616	RBCK1	OMIM:615895
HP:0004386	Gastrointestinal inflammation	5243	ABCB1	OMIM:612244
HP:0004386	Gastrointestinal inflammation	6550	SLC9A3	OMIM:616868
HP:0004386	Gastrointestinal inflammation	3257	HPS1	OMIM:203300
HP:0004386	Gastrointestinal inflammation	987	LRBA	OMIM:614700
HP:0004386	Gastrointestinal inflammation	7456	WIPF1	ORPHA:906
HP:0004386	Gastrointestinal inflammation	8737	RIPK1	OMIM:618108
HP:0004386	Gastrointestinal inflammation	4210	MEFV	ORPHA:3243
HP:0004386	Gastrointestinal inflammation	10095	ARPC1B	OMIM:617718
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	OMIM:232220
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	OMIM:232240
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	ORPHA:79259
HP:0004386	Gastrointestinal inflammation	3106	HLA-B	OMIM:106300
HP:0004386	Gastrointestinal inflammation	3106	HLA-B	ORPHA:29207
HP:0004386	Gastrointestinal inflammation	5293	PIK3CD	OMIM:619281
HP:0004386	Gastrointestinal inflammation	2000	ELF4	OMIM:301074
HP:0004386	Gastrointestinal inflammation	64127	NOD2	OMIM:266600
HP:0004386	Gastrointestinal inflammation	3569	IL6	OMIM:266600
HP:0004386	Gastrointestinal inflammation	57511	COG6	OMIM:614576
HP:0004386	Gastrointestinal inflammation	345611	IRGM	OMIM:612278
HP:0004386	Gastrointestinal inflammation	59067	IL21	OMIM:615767
HP:0004386	Gastrointestinal inflammation	64858	DCLRE1B	OMIM:620133
HP:0004386	Gastrointestinal inflammation	5297	PI4KA	OMIM:619708
HP:0004386	Gastrointestinal inflammation	355	FAS	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	356	FASLG	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	5580	PRKCD	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	843	CASP10	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	10125	RASGRP1	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	51750	RTEL1	OMIM:615190
HP:0004386	Gastrointestinal inflammation	5422	POLA1	OMIM:301220
HP:0004386	Gastrointestinal inflammation	7128	TNFAIP3	OMIM:616744
HP:0004386	Gastrointestinal inflammation	4261	CIITA	OMIM:209920
HP:0004386	Gastrointestinal inflammation	5994	RFXAP	OMIM:209920
HP:0004386	Gastrointestinal inflammation	5993	RFX5	OMIM:209920
HP:0004386	Gastrointestinal inflammation	8625	RFXANK	OMIM:209920
HP:0004386	Gastrointestinal inflammation	10625	IVNS1ABP	OMIM:618969
HP:0004386	Gastrointestinal inflammation	50943	FOXP3	ORPHA:37042
HP:0004386	Gastrointestinal inflammation	6499	SKIC2	OMIM:614602
HP:0004386	Gastrointestinal inflammation	6499	SKIC2	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	5551	PRF1	ORPHA:540
HP:0004386	Gastrointestinal inflammation	8676	STX11	ORPHA:540
HP:0004386	Gastrointestinal inflammation	201294	UNC13D	ORPHA:540
HP:0004386	Gastrointestinal inflammation	6813	STXBP2	ORPHA:540
HP:0004386	Gastrointestinal inflammation	6813	STXBP2	OMIM:613101
HP:0004386	Gastrointestinal inflammation	8915	BCL10	OMIM:616098
HP:0004386	Gastrointestinal inflammation	23149	FCHO1	OMIM:619164
HP:0004386	Gastrointestinal inflammation	146206	CARMIL2	OMIM:618131
HP:0004386	Gastrointestinal inflammation	9652	SKIC3	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	7535	ZAP70	OMIM:617006
HP:0004386	Gastrointestinal inflammation	7535	ZAP70	ORPHA:911
HP:0004386	Gastrointestinal inflammation	4689	NCF4	OMIM:613960
HP:0004386	Gastrointestinal inflammation	338328	GPIHBP1	OMIM:615947
HP:0004386	Gastrointestinal inflammation	3909	LAMA3	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	3918	LAMC2	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	3914	LAMB3	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	1308	COL17A1	ORPHA:79406
HP:0004386	Gastrointestinal inflammation	4312	MMP1	ORPHA:79408
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79408
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79409
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79410
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79411
HP:0004386	Gastrointestinal inflammation	3594	IL12RB1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	23534	TNPO3	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3592	IL12A	ORPHA:186
HP:0004386	Gastrointestinal inflammation	6689	SPIB	ORPHA:186
HP:0004386	Gastrointestinal inflammation	5450	POU2AF1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	9966	TNFSF15	ORPHA:186
HP:0004386	Gastrointestinal inflammation	79258	MMEL1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3663	IRF5	ORPHA:186
HP:0004386	Gastrointestinal inflammation	58484	NLRC4	OMIM:616050
HP:0004386	Gastrointestinal inflammation	6772	STAT1	ORPHA:391487
HP:0004386	Gastrointestinal inflammation	10043	TOM1	ORPHA:391487
HP:0004386	Gastrointestinal inflammation	57217	TTC7A	OMIM:243150
HP:0004386	Gastrointestinal inflammation	26873	OPLAH	OMIM:260005
HP:0004386	Gastrointestinal inflammation	5336	PLCG2	OMIM:614878
HP:0004386	Gastrointestinal inflammation	3588	IL10RB	OMIM:612567
HP:0004386	Gastrointestinal inflammation	5294	PIK3CG	OMIM:619802
HP:0004386	Gastrointestinal inflammation	5979	RET	OMIM:142623
HP:0004386	Gastrointestinal inflammation	1991	ELANE	ORPHA:2686
HP:0004386	Gastrointestinal inflammation	84433	CARD11	OMIM:617638
HP:0004386	Gastrointestinal inflammation	3716	JAK1	OMIM:618999
HP:0004386	Gastrointestinal inflammation	1794	DOCK2	OMIM:616433
HP:0004386	Gastrointestinal inflammation	8547	FCN3	OMIM:613860
HP:0004386	Gastrointestinal inflammation	2271	FH	OMIM:606812
HP:0004386	Gastrointestinal inflammation	37	ACADVL	OMIM:201475
HP:0004386	Gastrointestinal inflammation	84992	PIGY	OMIM:616809
HP:0004386	Gastrointestinal inflammation	50619	DEF6	OMIM:619573
HP:0004386	Gastrointestinal inflammation	22900	CARD8	OMIM:619079
HP:0004386	Gastrointestinal inflammation	2859	GPR35	ORPHA:171
HP:0004386	Gastrointestinal inflammation	10507	SEMA4D	ORPHA:171
HP:0004386	Gastrointestinal inflammation	4485	MST1	ORPHA:171
HP:0004386	Gastrointestinal inflammation	10747	MASP2	OMIM:613791
HP:0004386	Gastrointestinal inflammation	27178	IL37	OMIM:619398
HP:0004386	Gastrointestinal inflammation	6885	MAP3K7	OMIM:617137
HP:0004386	Gastrointestinal inflammation	6850	SYK	OMIM:619381
HP:0004386	Gastrointestinal inflammation	29775	CARD10	OMIM:619632
HP:0004386	Gastrointestinal inflammation	60468	BACH2	OMIM:618394
HP:0004386	Gastrointestinal inflammation	55765	INAVA	OMIM:618077
HP:0004386	Gastrointestinal inflammation	1493	CTLA4	OMIM:616100
HP:0004386	Gastrointestinal inflammation	9051	PSTPIP1	ORPHA:69126
HP:0004386	Gastrointestinal inflammation	79415	CYBC1	OMIM:618935
HP:0004386	Gastrointestinal inflammation	96459	FNIP1	OMIM:619705
HP:0004386	Gastrointestinal inflammation	3587	IL10RA	OMIM:613148
HP:0004386	Gastrointestinal inflammation	2984	GUCY2C	OMIM:614616
HP:0004386	Gastrointestinal inflammation	4629	MYH11	OMIM:619350
HP:0004386	Gastrointestinal inflammation	538	ATP7A	ORPHA:198
HP:0004386	Gastrointestinal inflammation	5966	REL	OMIM:619652
HP:0004386	Gastrointestinal inflammation	4221	MEN1	OMIM:131100
HP:0004386	Gastrointestinal inflammation	6135	RPL11	OMIM:612562
HP:0004386	Gastrointestinal inflammation	60684	TRAPPC11	OMIM:615356
HP:0004386	Gastrointestinal inflammation	5238	PGM3	ORPHA:443811
HP:0004386	Gastrointestinal inflammation	3376	IARS1	ORPHA:541423
HP:0004386	Gastrointestinal inflammation	81031	SLC2A10	ORPHA:3342
HP:0004386	Gastrointestinal inflammation	9719	ADAMTSL2	ORPHA:1901
HP:0004386	Gastrointestinal inflammation	9509	ADAMTS2	ORPHA:1901
HP:0004386	Gastrointestinal inflammation	6925	TCF4	ORPHA:2896
HP:0004386	Gastrointestinal inflammation	2887	GRB10	ORPHA:96182
HP:0004386	Gastrointestinal inflammation	2743	GLRB	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	2741	GLRA1	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	10243	GPHN	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	84896	ATAD1	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	9152	SLC6A5	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	4010	LMX1B	ORPHA:495818
HP:0004386	Gastrointestinal inflammation	6812	STXBP1	ORPHA:495818
HP:0004386	Gastrointestinal inflammation	5723	PSPH	ORPHA:79350
HP:0004386	Gastrointestinal inflammation	26227	PHGDH	ORPHA:79351
HP:0004386	Gastrointestinal inflammation	1027	CDKN1B	ORPHA:276152
HP:0004386	Gastrointestinal inflammation	4088	SMAD3	OMIM:613795
HP:0004386	Gastrointestinal inflammation	7046	TGFBR1	OMIM:609192
HP:0004386	Gastrointestinal inflammation	81704	DOCK8	OMIM:243700
HP:0004386	Gastrointestinal inflammation	7048	TGFBR2	OMIM:610168
HP:0004386	Gastrointestinal inflammation	1828	DSG1	OMIM:615508
HP:0004386	Gastrointestinal inflammation	7042	TGFB2	OMIM:614816
HP:0004386	Gastrointestinal inflammation	7040	TGFB1	OMIM:618213
HP:0004386	Gastrointestinal inflammation	7043	TGFB3	OMIM:615582
HP:0004386	Gastrointestinal inflammation	1777	DNASE2	OMIM:619858
HP:0004387	Enterocolitis	58484	NLRC4	OMIM:616050
HP:0004387	Enterocolitis	6772	STAT1	ORPHA:391487
HP:0004387	Enterocolitis	10043	TOM1	ORPHA:391487
HP:0004387	Enterocolitis	57217	TTC7A	OMIM:243150
HP:0004387	Enterocolitis	26873	OPLAH	OMIM:260005
HP:0004387	Enterocolitis	3587	IL10RA	OMIM:613148
HP:0004387	Enterocolitis	5336	PLCG2	OMIM:614878
HP:0004387	Enterocolitis	3588	IL10RB	OMIM:612567
HP:0004387	Enterocolitis	5294	PIK3CG	OMIM:619802
HP:0004387	Enterocolitis	5979	RET	OMIM:142623
HP:0004387	Enterocolitis	1991	ELANE	ORPHA:2686
HP:0004387	Enterocolitis	2542	SLC37A4	ORPHA:79259
HP:0004387	Enterocolitis	8547	FCN3	OMIM:613860
HP:0004387	Enterocolitis	2271	FH	OMIM:606812
HP:0004387	Enterocolitis	4629	MYH11	OMIM:619350
HP:0004387	Enterocolitis	37	ACADVL	OMIM:201475
HP:0004387	Enterocolitis	84992	PIGY	OMIM:616809
HP:0004387	Enterocolitis	50619	DEF6	OMIM:619573
HP:0004388	Microcolon	2627	GATA6	OMIM:600001
HP:0004388	Microcolon	2984	GUCY2C	OMIM:614665
HP:0004388	Microcolon	4000	LMNA	ORPHA:1662
HP:0004388	Microcolon	10269	ZMPSTE24	ORPHA:1662
HP:0004388	Microcolon	6663	SOX10	ORPHA:163746
HP:0004388	Microcolon	25802	LMOD1	ORPHA:2241
HP:0004388	Microcolon	25802	LMOD1	OMIM:619362
HP:0004388	Microcolon	4629	MYH11	ORPHA:2241
HP:0004388	Microcolon	4629	MYH11	OMIM:619351
HP:0004388	Microcolon	72	ACTG2	ORPHA:2241
HP:0004388	Microcolon	72	ACTG2	OMIM:155310
HP:0004388	Microcolon	72	ACTG2	OMIM:619431
HP:0004388	Microcolon	4638	MYLK	ORPHA:2241
HP:0004388	Microcolon	1174	AP1S1	OMIM:609313
HP:0004389	Intestinal pseudo-obstruction	3190	HNRNPK	ORPHA:453504
HP:0004389	Intestinal pseudo-obstruction	3190	HNRNPK	ORPHA:352665
HP:0004389	Intestinal pseudo-obstruction	4629	MYH11	OMIM:619350
HP:0004389	Intestinal pseudo-obstruction	4558	MT-TF	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4572	MT-TQ	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4512	MT-CO1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4513	MT-CO2	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4514	MT-CO3	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4578	MT-TW	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4540	MT-ND5	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4541	MT-ND6	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4535	MT-ND1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4538	MT-ND4	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4567	MT-TL1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4574	MT-TS1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4575	MT-TS2	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4564	MT-TH	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:613662
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:603041
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	72	ACTG2	OMIM:155310
HP:0004389	Intestinal pseudo-obstruction	2316	FLNA	OMIM:300048
HP:0004389	Intestinal pseudo-obstruction	151648	SGO1	OMIM:616201
HP:0004389	Intestinal pseudo-obstruction	6608	SMO	OMIM:601707
HP:0004389	Intestinal pseudo-obstruction	3423	IDS	OMIM:309900
HP:0004389	Intestinal pseudo-obstruction	3980	LIG3	OMIM:619780
HP:0004389	Intestinal pseudo-obstruction	672	BRCA1	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	285282	RABL3	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	7157	TP53	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	675	BRCA2	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	3845	KRAS	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	1029	CDKN2A	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	79728	PALB2	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	4089	SMAD4	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	23022	PALLD	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	5885	RAD21	OMIM:611376
HP:0004389	Intestinal pseudo-obstruction	2065	ERBB3	OMIM:243180
HP:0004389	Intestinal pseudo-obstruction	1890	TYMP	OMIM:603041
HP:0030237	Hand muscle weakness	2617	GARS1	OMIM:600794
HP:0030237	Hand muscle weakness	2617	GARS1	ORPHA:139536
HP:0030237	Hand muscle weakness	2617	GARS1	OMIM:601472
HP:0030237	Hand muscle weakness	4703	NEB	ORPHA:399103
HP:0030237	Hand muscle weakness	7273	TTN	ORPHA:609
HP:0030237	Hand muscle weakness	8878	SQSTM1	ORPHA:603
HP:0030237	Hand muscle weakness	7072	TIA1	ORPHA:603
HP:0030237	Hand muscle weakness	11155	LDB3	ORPHA:98912
HP:0030237	Hand muscle weakness	3094	HINT1	ORPHA:324442
HP:0030237	Hand muscle weakness	6329	SCN4A	ORPHA:98913
HP:0030237	Hand muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0030237	Hand muscle weakness	4038	LRP4	ORPHA:98913
HP:0030237	Hand muscle weakness	1305	COL13A1	ORPHA:98913
HP:0030237	Hand muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0030237	Hand muscle weakness	1144	CHRND	ORPHA:98913
HP:0030237	Hand muscle weakness	1145	CHRNE	ORPHA:98913
HP:0030237	Hand muscle weakness	4593	MUSK	ORPHA:98913
HP:0030237	Hand muscle weakness	5913	RAPSN	ORPHA:98913
HP:0030237	Hand muscle weakness	375790	AGRN	ORPHA:98913
HP:0030237	Hand muscle weakness	221264	AK9	ORPHA:98913
HP:0030237	Hand muscle weakness	285489	DOK7	ORPHA:98913
HP:0030237	Hand muscle weakness	10020	GNE	ORPHA:602
HP:0030237	Hand muscle weakness	5376	PMP22	OMIM:162500
HP:0030237	Hand muscle weakness	5376	PMP22	ORPHA:90658
HP:0030237	Hand muscle weakness	4141	MARS1	OMIM:616280
HP:0030237	Hand muscle weakness	23299	BICD2	ORPHA:363454
HP:0030237	Hand muscle weakness	65055	REEP1	ORPHA:101011
HP:0030237	Hand muscle weakness	4625	MYH7	ORPHA:437572
HP:0030237	Hand muscle weakness	8988	HSPB3	OMIM:613376
HP:0030237	Hand muscle weakness	9782	MATR3	OMIM:606070
HP:0030237	Hand muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0030237	Hand muscle weakness	859	CAV3	OMIM:614321
HP:0030237	Hand muscle weakness	5165	PDK3	OMIM:300905
HP:0030237	Hand muscle weakness	1639	DCTN1	OMIM:607641
HP:0030237	Hand muscle weakness	81846	SBF2	ORPHA:99956
HP:0030237	Hand muscle weakness	54332	GDAP1	ORPHA:101097
HP:0030237	Hand muscle weakness	54332	GDAP1	ORPHA:99948
HP:0030237	Hand muscle weakness	7084	TK2	ORPHA:254886
HP:0030237	Hand muscle weakness	5428	POLG	ORPHA:254886
HP:0030237	Hand muscle weakness	2705	GJB1	OMIM:302800
HP:0030237	Hand muscle weakness	2992	GYG1	OMIM:616199
HP:0030237	Hand muscle weakness	26580	BSCL2	ORPHA:100998
HP:0030237	Hand muscle weakness	22880	MORC2	ORPHA:466768
HP:0030237	Hand muscle weakness	3035	HARS1	ORPHA:488333
HP:0030237	Hand muscle weakness	8292	COLQ	ORPHA:98915
HP:0030237	Hand muscle weakness	3913	LAMB2	ORPHA:98915
HP:0030237	Hand muscle weakness	4000	LMNA	ORPHA:98856
HP:0030237	Hand muscle weakness	4747	NEFL	ORPHA:101085
HP:0030237	Hand muscle weakness	9927	MFN2	ORPHA:99947
HP:0030237	Hand muscle weakness	8565	YARS1	OMIM:608323
HP:0030237	Hand muscle weakness	2318	FLNC	ORPHA:63273
HP:0030237	Hand muscle weakness	8291	DYSF	ORPHA:178400
HP:0030237	Hand muscle weakness	57863	CADM3	OMIM:619519
HP:0030236	Abnormality of muscle size	11160	ERLIN2	ORPHA:280384
HP:0030236	Abnormality of muscle size	11160	ERLIN2	ORPHA:209951
HP:0030236	Abnormality of muscle size	8450	CUL4B	OMIM:300354
HP:0030236	Abnormality of muscle size	51422	PRKAG2	OMIM:261740
HP:0030236	Abnormality of muscle size	9158	FIBP	ORPHA:500095
HP:0030236	Abnormality of muscle size	9158	FIBP	OMIM:617107
HP:0030236	Abnormality of muscle size	56623	INPP5E	OMIM:213300
HP:0030236	Abnormality of muscle size	79813	EHMT1	ORPHA:96147
HP:0030236	Abnormality of muscle size	79813	EHMT1	OMIM:610253
HP:0030236	Abnormality of muscle size	411	ARSB	OMIM:253200
HP:0030236	Abnormality of muscle size	3190	HNRNPK	ORPHA:453504
HP:0030236	Abnormality of muscle size	3190	HNRNPK	ORPHA:352665
HP:0030236	Abnormality of muscle size	4125	MAN2B1	ORPHA:309282
HP:0030236	Abnormality of muscle size	4125	MAN2B1	ORPHA:309288
HP:0030236	Abnormality of muscle size	4125	MAN2B1	OMIM:248500
HP:0030236	Abnormality of muscle size	27125	AFF4	ORPHA:444077
HP:0030236	Abnormality of muscle size	7849	PAX8	OMIM:218700
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95720
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95713
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95712
HP:0030236	Abnormality of muscle size	91754	NEK9	OMIM:617022
HP:0030236	Abnormality of muscle size	2623	GATA1	OMIM:190685
HP:0030236	Abnormality of muscle size	388015	RTL1	ORPHA:254528
HP:0030236	Abnormality of muscle size	388015	RTL1	ORPHA:96334
HP:0030236	Abnormality of muscle size	8788	DLK1	ORPHA:254528
HP:0030236	Abnormality of muscle size	8788	DLK1	ORPHA:96334
HP:0030236	Abnormality of muscle size	55384	MEG3	ORPHA:254528
HP:0030236	Abnormality of muscle size	55384	MEG3	ORPHA:96334
HP:0030236	Abnormality of muscle size	3074	HEXB	OMIM:268800
HP:0030236	Abnormality of muscle size	65082	VPS33A	OMIM:617303
HP:0030236	Abnormality of muscle size	65082	VPS33A	ORPHA:505248
HP:0030236	Abnormality of muscle size	526	ATP6V1B2	OMIM:616455
HP:0030236	Abnormality of muscle size	526	ATP6V1B2	ORPHA:3473
HP:0030236	Abnormality of muscle size	10758	TRAF3IP2	OMIM:615527
HP:0030236	Abnormality of muscle size	10084	PQBP1	ORPHA:93947
HP:0030236	Abnormality of muscle size	2720	GLB1	ORPHA:79255
HP:0030236	Abnormality of muscle size	79158	GNPTAB	OMIM:252500
HP:0030236	Abnormality of muscle size	271	AMPD2	OMIM:615809
HP:0030236	Abnormality of muscle size	3908	LAMA2	ORPHA:258
HP:0030236	Abnormality of muscle size	57231	SNX14	ORPHA:397709
HP:0030236	Abnormality of muscle size	57231	SNX14	OMIM:616354
HP:0030236	Abnormality of muscle size	5189	PEX1	OMIM:214100
HP:0030236	Abnormality of muscle size	3767	KCNJ11	ORPHA:99886
HP:0030236	Abnormality of muscle size	346171	ZFP57	ORPHA:99886
HP:0030236	Abnormality of muscle size	57061	HYMAI	ORPHA:99886
HP:0030236	Abnormality of muscle size	57061	HYMAI	ORPHA:96191
HP:0030236	Abnormality of muscle size	6833	ABCC8	ORPHA:99886
HP:0030236	Abnormality of muscle size	5325	PLAGL1	ORPHA:99886
HP:0030236	Abnormality of muscle size	5325	PLAGL1	ORPHA:96191
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:90673
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:95720
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:95713
HP:0030236	Abnormality of muscle size	5172	SLC26A4	ORPHA:95720
HP:0030236	Abnormality of muscle size	5172	SLC26A4	ORPHA:95713
HP:0030236	Abnormality of muscle size	7252	TSHB	ORPHA:90674
HP:0030236	Abnormality of muscle size	7252	TSHB	OMIM:275100
HP:0030236	Abnormality of muscle size	55777	MBD5	OMIM:156200
HP:0030236	Abnormality of muscle size	10940	POP1	OMIM:617396
HP:0030236	Abnormality of muscle size	405753	DUOXA2	ORPHA:95716
HP:0030236	Abnormality of muscle size	6528	SLC5A5	ORPHA:95716
HP:0030236	Abnormality of muscle size	6528	SLC5A5	OMIM:274400
HP:0030236	Abnormality of muscle size	7038	TG	ORPHA:95716
HP:0030236	Abnormality of muscle size	7173	TPO	ORPHA:95716
HP:0030236	Abnormality of muscle size	389434	IYD	ORPHA:95716
HP:0030236	Abnormality of muscle size	50506	DUOX2	ORPHA:95716
HP:0030236	Abnormality of muscle size	50506	DUOX2	ORPHA:226316
HP:0030236	Abnormality of muscle size	7080	NKX2-1	ORPHA:95713
HP:0030236	Abnormality of muscle size	1482	NKX2-5	ORPHA:95713
HP:0030236	Abnormality of muscle size	1482	NKX2-5	ORPHA:95712
HP:0030236	Abnormality of muscle size	2304	FOXE1	ORPHA:95713
HP:0030236	Abnormality of muscle size	3423	IDS	ORPHA:217085
HP:0030236	Abnormality of muscle size	3423	IDS	ORPHA:217093
HP:0030236	Abnormality of muscle size	3423	IDS	OMIM:309900
HP:0030236	Abnormality of muscle size	3572	IL6ST	OMIM:618523
HP:0030236	Abnormality of muscle size	93627	TBCK	OMIM:616900
HP:0030236	Abnormality of muscle size	93627	TBCK	ORPHA:488632
HP:0030236	Abnormality of muscle size	8289	ARID1A	OMIM:614607
HP:0030236	Abnormality of muscle size	23389	MED13L	ORPHA:369891
HP:0030236	Abnormality of muscle size	23389	MED13L	OMIM:616789
HP:0030236	Abnormality of muscle size	83550	GPR101	ORPHA:963
HP:0030236	Abnormality of muscle size	9049	AIP	ORPHA:963
HP:0030236	Abnormality of muscle size	6598	SMARCB1	OMIM:614608
HP:0030236	Abnormality of muscle size	6597	SMARCA4	OMIM:614609
HP:0030236	Abnormality of muscle size	60	ACTB	ORPHA:79107
HP:0030236	Abnormality of muscle size	3265	HRAS	ORPHA:3071
HP:0030236	Abnormality of muscle size	3265	HRAS	OMIM:218040
HP:0030236	Abnormality of muscle size	10483	SEC23B	ORPHA:201
HP:0030236	Abnormality of muscle size	5728	PTEN	ORPHA:201
HP:0030236	Abnormality of muscle size	5728	PTEN	ORPHA:65285
HP:0030236	Abnormality of muscle size	6390	SDHB	ORPHA:201
HP:0030236	Abnormality of muscle size	6392	SDHD	ORPHA:201
HP:0030236	Abnormality of muscle size	6391	SDHC	ORPHA:201
HP:0030236	Abnormality of muscle size	207	AKT1	ORPHA:201
HP:0030236	Abnormality of muscle size	205717	USF3	ORPHA:201
HP:0030236	Abnormality of muscle size	5290	PIK3CA	ORPHA:201
HP:0030236	Abnormality of muscle size	100144748	KLLN	ORPHA:201
HP:0030236	Abnormality of muscle size	112812	FDX2	OMIM:251900
HP:0030236	Abnormality of muscle size	55687	TRMU	ORPHA:254864
HP:0030236	Abnormality of muscle size	7067	THRA	OMIM:614450
HP:0030236	Abnormality of muscle size	3070	HELLS	ORPHA:2268
HP:0030236	Abnormality of muscle size	1789	DNMT3B	ORPHA:2268
HP:0030236	Abnormality of muscle size	1789	DNMT3B	OMIM:242860
HP:0030236	Abnormality of muscle size	83879	CDCA7	ORPHA:2268
HP:0030236	Abnormality of muscle size	9841	ZBTB24	ORPHA:2268
HP:0030236	Abnormality of muscle size	6023	RMRP	OMIM:607095
HP:0030236	Abnormality of muscle size	175	AGA	OMIM:208400
HP:0030236	Abnormality of muscle size	175	AGA	ORPHA:93
HP:0030236	Abnormality of muscle size	3756	KCNH1	ORPHA:3473
HP:0030236	Abnormality of muscle size	3782	KCNN3	ORPHA:3473
HP:0030236	Abnormality of muscle size	26040	SETBP1	OMIM:269150
HP:0030236	Abnormality of muscle size	26040	SETBP1	ORPHA:798
HP:0030236	Abnormality of muscle size	6445	SGCG	ORPHA:353
HP:0030236	Abnormality of muscle size	9653	HS2ST1	OMIM:619194
HP:0030236	Abnormality of muscle size	2290	FOXG1	ORPHA:261144
HP:0030236	Abnormality of muscle size	57003	CCDC47	OMIM:618268
HP:0030236	Abnormality of muscle size	10526	IPO8	OMIM:619472
HP:0030236	Abnormality of muscle size	94005	PIGS	OMIM:618143
HP:0030236	Abnormality of muscle size	5626	PROP1	ORPHA:226307
HP:0030236	Abnormality of muscle size	89884	LHX4	ORPHA:226307
HP:0030236	Abnormality of muscle size	8022	LHX3	ORPHA:226307
HP:0030236	Abnormality of muscle size	5449	POU1F1	ORPHA:226307
HP:0030236	Abnormality of muscle size	5449	POU1F1	OMIM:613038
HP:0030236	Abnormality of muscle size	8820	HESX1	ORPHA:226307
HP:0030236	Abnormality of muscle size	2517	FUCA1	OMIM:230000
HP:0030236	Abnormality of muscle size	2548	GAA	OMIM:232300
HP:0030236	Abnormality of muscle size	2548	GAA	ORPHA:308552
HP:0030236	Abnormality of muscle size	51692	CPSF3	OMIM:619876
HP:0030236	Abnormality of muscle size	6804	STX1A	ORPHA:904
HP:0030236	Abnormality of muscle size	7461	CLIP2	ORPHA:904
HP:0030236	Abnormality of muscle size	84277	DNAJC30	ORPHA:904
HP:0030236	Abnormality of muscle size	8468	FKBP6	ORPHA:904
HP:0030236	Abnormality of muscle size	5982	RFC2	ORPHA:904
HP:0030236	Abnormality of muscle size	2969	GTF2I	ORPHA:904
HP:0030236	Abnormality of muscle size	3984	LIMK1	ORPHA:904
HP:0030236	Abnormality of muscle size	9569	GTF2IRD1	ORPHA:904
HP:0030236	Abnormality of muscle size	155382	VPS37D	ORPHA:904
HP:0030236	Abnormality of muscle size	155368	METTL27	ORPHA:904
HP:0030236	Abnormality of muscle size	114049	BUD23	ORPHA:904
HP:0030236	Abnormality of muscle size	7458	EIF4H	ORPHA:904
HP:0030236	Abnormality of muscle size	84163	GTF2IRD2	ORPHA:904
HP:0030236	Abnormality of muscle size	9275	BCL7B	ORPHA:904
HP:0030236	Abnormality of muscle size	26608	TBL2	ORPHA:904
HP:0030236	Abnormality of muscle size	653361	NCF1	ORPHA:904
HP:0030236	Abnormality of muscle size	135886	TMEM270	ORPHA:904
HP:0030236	Abnormality of muscle size	51085	MLXIPL	ORPHA:904
HP:0030236	Abnormality of muscle size	9031	BAZ1B	ORPHA:904
HP:0030236	Abnormality of muscle size	2006	ELN	ORPHA:904
HP:0030236	Abnormality of muscle size	79753	SNIP1	OMIM:614501
HP:0030236	Abnormality of muscle size	6638	SNRPN	OMIM:105830
HP:0030236	Abnormality of muscle size	7337	UBE3A	OMIM:105830
HP:0030236	Abnormality of muscle size	29925	GMPPB	ORPHA:370959
HP:0030236	Abnormality of muscle size	84197	POMK	ORPHA:370959
HP:0030236	Abnormality of muscle size	55624	POMGNT1	ORPHA:370959
HP:0030236	Abnormality of muscle size	2799	GNS	OMIM:252940
HP:0030236	Abnormality of muscle size	9215	LARGE1	OMIM:608840
HP:0030236	Abnormality of muscle size	4920	ROR2	OMIM:268310
HP:0030236	Abnormality of muscle size	2239	GPC4	ORPHA:373
HP:0030236	Abnormality of muscle size	2239	GPC4	OMIM:312870
HP:0030236	Abnormality of muscle size	2719	GPC3	ORPHA:373
HP:0030236	Abnormality of muscle size	2719	GPC3	OMIM:312870
HP:0030236	Abnormality of muscle size	4123	MAN2C1	OMIM:619775
HP:0030236	Abnormality of muscle size	54941	RNF125	OMIM:616260
HP:0030236	Abnormality of muscle size	284098	PIGW	OMIM:616025
HP:0030236	Abnormality of muscle size	10020	GNE	OMIM:269921
HP:0030236	Abnormality of muscle size	1028	CDKN1C	OMIM:130650
HP:0030236	Abnormality of muscle size	10984	KCNQ1OT1	OMIM:130650
HP:0030236	Abnormality of muscle size	3481	IGF2	OMIM:130650
HP:0030236	Abnormality of muscle size	3784	KCNQ1	OMIM:130650
HP:0030236	Abnormality of muscle size	5286	PIK3C2A	OMIM:618440
HP:0030236	Abnormality of muscle size	2990	GUSB	OMIM:253220
HP:0030236	Abnormality of muscle size	3643	INSR	ORPHA:769
HP:0030236	Abnormality of muscle size	55679	LIMS2	OMIM:616827
HP:0030236	Abnormality of muscle size	29929	ALG6	ORPHA:79320
HP:0030236	Abnormality of muscle size	10195	ALG3	ORPHA:79321
HP:0030236	Abnormality of muscle size	5468	PPARG	ORPHA:528
HP:0030236	Abnormality of muscle size	10555	AGPAT2	ORPHA:528
HP:0030236	Abnormality of muscle size	284119	CAVIN1	ORPHA:528
HP:0030236	Abnormality of muscle size	2353	FOS	ORPHA:528
HP:0030236	Abnormality of muscle size	857	CAV1	ORPHA:528
HP:0030236	Abnormality of muscle size	3778	KCNMA1	OMIM:618729
HP:0030236	Abnormality of muscle size	7474	WNT5A	OMIM:180700
HP:0030236	Abnormality of muscle size	1855	DVL1	OMIM:180700
HP:0030236	Abnormality of muscle size	79053	ALG8	ORPHA:79325
HP:0030236	Abnormality of muscle size	9742	IFT140	OMIM:266920
HP:0030236	Abnormality of muscle size	5696	PSMB8	OMIM:256040
HP:0030236	Abnormality of muscle size	1374	CPT1A	ORPHA:156
HP:0030236	Abnormality of muscle size	9131	AIFM1	ORPHA:238329
HP:0030236	Abnormality of muscle size	9131	AIFM1	OMIM:300232
HP:0030236	Abnormality of muscle size	9131	AIFM1	ORPHA:101078
HP:0030236	Abnormality of muscle size	9131	AIFM1	OMIM:300614
HP:0030236	Abnormality of muscle size	9131	AIFM1	OMIM:300816
HP:0030236	Abnormality of muscle size	64374	SIL1	OMIM:248800
HP:0030236	Abnormality of muscle size	64374	SIL1	ORPHA:559
HP:0030236	Abnormality of muscle size	4702	NDUFA8	OMIM:619272
HP:0030236	Abnormality of muscle size	4359	MPZ	OMIM:618184
HP:0030236	Abnormality of muscle size	4359	MPZ	ORPHA:3115
HP:0030236	Abnormality of muscle size	4359	MPZ	ORPHA:101082
HP:0030236	Abnormality of muscle size	1497	CTNS	OMIM:219800
HP:0030236	Abnormality of muscle size	158	ADSL	OMIM:103050
HP:0030236	Abnormality of muscle size	1145	CHRNE	OMIM:608931
HP:0030236	Abnormality of muscle size	1145	CHRNE	ORPHA:98913
HP:0030236	Abnormality of muscle size	91574	MTRFR	ORPHA:254930
HP:0030236	Abnormality of muscle size	91574	MTRFR	OMIM:613559
HP:0030236	Abnormality of muscle size	91574	MTRFR	ORPHA:320375
HP:0030236	Abnormality of muscle size	26235	FBXL4	OMIM:615471
HP:0030236	Abnormality of muscle size	104	ADARB1	OMIM:618862
HP:0030236	Abnormality of muscle size	83932	SPRTN	OMIM:616200
HP:0030236	Abnormality of muscle size	6834	SURF1	OMIM:616684
HP:0030236	Abnormality of muscle size	4750	NEK1	OMIM:617892
HP:0030236	Abnormality of muscle size	4750	NEK1	ORPHA:803
HP:0030236	Abnormality of muscle size	1161	ERCC8	ORPHA:90324
HP:0030236	Abnormality of muscle size	2074	ERCC6	ORPHA:90324
HP:0030236	Abnormality of muscle size	50484	RRM2B	ORPHA:329336
HP:0030236	Abnormality of muscle size	50484	RRM2B	ORPHA:480
HP:0030236	Abnormality of muscle size	246243	RNASEH1	ORPHA:329336
HP:0030236	Abnormality of muscle size	246243	RNASEH1	OMIM:616479
HP:0030236	Abnormality of muscle size	4758	NEU1	OMIM:256550
HP:0030236	Abnormality of muscle size	4758	NEU1	ORPHA:812
HP:0030236	Abnormality of muscle size	57679	ALS2	ORPHA:247604
HP:0030236	Abnormality of muscle size	57679	ALS2	ORPHA:300605
HP:0030236	Abnormality of muscle size	57679	ALS2	OMIM:205100
HP:0030236	Abnormality of muscle size	22947	DUX4L1	ORPHA:269
HP:0030236	Abnormality of muscle size	2483	FRG1	ORPHA:269
HP:0030236	Abnormality of muscle size	2483	FRG1	OMIM:158900
HP:0030236	Abnormality of muscle size	23347	SMCHD1	ORPHA:269
HP:0030236	Abnormality of muscle size	100288687	DUX4	ORPHA:269
HP:0030236	Abnormality of muscle size	347733	TUBB2B	ORPHA:1766
HP:0030236	Abnormality of muscle size	7436	VLDLR	ORPHA:1766
HP:0030236	Abnormality of muscle size	124997	WDR81	ORPHA:1766
HP:0030236	Abnormality of muscle size	51761	ATP8A2	ORPHA:1766
HP:0030236	Abnormality of muscle size	767	CA8	ORPHA:1766
HP:0030236	Abnormality of muscle size	5339	PLEC	ORPHA:254361
HP:0030236	Abnormality of muscle size	5339	PLEC	OMIM:613723
HP:0030236	Abnormality of muscle size	10479	SLC9A6	OMIM:300243
HP:0030236	Abnormality of muscle size	58	ACTA1	ORPHA:171433
HP:0030236	Abnormality of muscle size	58	ACTA1	ORPHA:171430
HP:0030236	Abnormality of muscle size	58	ACTA1	ORPHA:97244
HP:0030236	Abnormality of muscle size	58	ACTA1	OMIM:616852
HP:0030236	Abnormality of muscle size	10324	KLHL41	ORPHA:171433
HP:0030236	Abnormality of muscle size	10324	KLHL41	ORPHA:171430
HP:0030236	Abnormality of muscle size	57222	ERGIC1	OMIM:208100
HP:0030236	Abnormality of muscle size	57222	ERGIC1	ORPHA:1143
HP:0030236	Abnormality of muscle size	131377	KLHL40	ORPHA:171430
HP:0030236	Abnormality of muscle size	56203	LMOD3	ORPHA:171430
HP:0030236	Abnormality of muscle size	56203	LMOD3	OMIM:616165
HP:0030236	Abnormality of muscle size	10528	NOP56	OMIM:614153
HP:0030236	Abnormality of muscle size	10528	NOP56	ORPHA:276198
HP:0030236	Abnormality of muscle size	9197	SLC33A1	OMIM:612539
HP:0030236	Abnormality of muscle size	6335	SCN9A	ORPHA:970
HP:0030236	Abnormality of muscle size	65125	WNK1	ORPHA:970
HP:0030236	Abnormality of muscle size	54463	RETREG1	ORPHA:970
HP:0030236	Abnormality of muscle size	547	KIF1A	ORPHA:970
HP:0030236	Abnormality of muscle size	2273	FHL1	OMIM:300696
HP:0030236	Abnormality of muscle size	2273	FHL1	OMIM:300695
HP:0030236	Abnormality of muscle size	6772	STAT1	OMIM:614162
HP:0030236	Abnormality of muscle size	7040	TGFB1	OMIM:131300
HP:0030236	Abnormality of muscle size	7040	TGFB1	ORPHA:1328
HP:0030236	Abnormality of muscle size	966	CD59	OMIM:612300
HP:0030236	Abnormality of muscle size	340061	STING1	OMIM:615934
HP:0030236	Abnormality of muscle size	114034	TOE1	OMIM:614969
HP:0030236	Abnormality of muscle size	114034	TOE1	ORPHA:284339
HP:0030236	Abnormality of muscle size	64087	MCCC2	OMIM:210210
HP:0030236	Abnormality of muscle size	54332	GDAP1	ORPHA:101097
HP:0030236	Abnormality of muscle size	54332	GDAP1	ORPHA:99944
HP:0030236	Abnormality of muscle size	823	CAPN1	OMIM:616907
HP:0030236	Abnormality of muscle size	823	CAPN1	ORPHA:488594
HP:0030236	Abnormality of muscle size	56984	PSMG2	OMIM:619183
HP:0030236	Abnormality of muscle size	8802	SUCLG1	OMIM:245400
HP:0030236	Abnormality of muscle size	8802	SUCLG1	ORPHA:17
HP:0030236	Abnormality of muscle size	7274	TTPA	ORPHA:96
HP:0030236	Abnormality of muscle size	23400	ATP13A2	ORPHA:513436
HP:0030236	Abnormality of muscle size	1280	COL2A1	ORPHA:2380
HP:0030236	Abnormality of muscle size	5442	POLRMT	OMIM:619743
HP:0030236	Abnormality of muscle size	118429	ANTXR2	ORPHA:2028
HP:0030236	Abnormality of muscle size	55526	DHTKD1	OMIM:615025
HP:0030236	Abnormality of muscle size	84342	COG8	ORPHA:95428
HP:0030236	Abnormality of muscle size	11284	PNKP	OMIM:613402
HP:0030236	Abnormality of muscle size	649	BMP1	OMIM:614856
HP:0030236	Abnormality of muscle size	79731	NARS2	OMIM:616239
HP:0030236	Abnormality of muscle size	55157	DARS2	OMIM:611105
HP:0030236	Abnormality of muscle size	374393	FAM111B	OMIM:615704
HP:0030236	Abnormality of muscle size	4747	NEFL	ORPHA:101085
HP:0030236	Abnormality of muscle size	113278	SLC52A3	OMIM:211530
HP:0030236	Abnormality of muscle size	57167	SALL4	ORPHA:233
HP:0030236	Abnormality of muscle size	9935	MAFB	ORPHA:233
HP:0030236	Abnormality of muscle size	1123	CHN1	ORPHA:233
HP:0030236	Abnormality of muscle size	3475	IFRD1	ORPHA:98771
HP:0030236	Abnormality of muscle size	10801	SEPTIN9	OMIM:162100
HP:0030236	Abnormality of muscle size	92482	BBIP1	ORPHA:110
HP:0030236	Abnormality of muscle size	80184	CEP290	ORPHA:110
HP:0030236	Abnormality of muscle size	11020	IFT27	ORPHA:110
HP:0030236	Abnormality of muscle size	582	BBS1	ORPHA:110
HP:0030236	Abnormality of muscle size	49855	SCAPER	ORPHA:110
HP:0030236	Abnormality of muscle size	4867	NPHP1	ORPHA:110
HP:0030236	Abnormality of muscle size	51057	WDPCP	ORPHA:110
HP:0030236	Abnormality of muscle size	27241	BBS9	ORPHA:110
HP:0030236	Abnormality of muscle size	84984	CEP19	ORPHA:110
HP:0030236	Abnormality of muscle size	54903	MKS1	ORPHA:110
HP:0030236	Abnormality of muscle size	79738	BBS10	ORPHA:110
HP:0030236	Abnormality of muscle size	123016	TTC8	ORPHA:110
HP:0030236	Abnormality of muscle size	26160	IFT172	ORPHA:110
HP:0030236	Abnormality of muscle size	583	BBS2	ORPHA:110
HP:0030236	Abnormality of muscle size	585	BBS4	ORPHA:110
HP:0030236	Abnormality of muscle size	8195	MKKS	ORPHA:110
HP:0030236	Abnormality of muscle size	54585	LZTFL1	ORPHA:110
HP:0030236	Abnormality of muscle size	55212	BBS7	ORPHA:110
HP:0030236	Abnormality of muscle size	166379	BBS12	ORPHA:110
HP:0030236	Abnormality of muscle size	10806	SDCCAG8	ORPHA:110
HP:0030236	Abnormality of muscle size	157657	CFAP418	ORPHA:110
HP:0030236	Abnormality of muscle size	84100	ARL6	ORPHA:110
HP:0030236	Abnormality of muscle size	129880	BBS5	ORPHA:110
HP:0030236	Abnormality of muscle size	80173	IFT74	ORPHA:110
HP:0030236	Abnormality of muscle size	55773	TBC1D23	OMIM:617695
HP:0030236	Abnormality of muscle size	5255	PHKA1	OMIM:300559
HP:0030236	Abnormality of muscle size	2318	FLNC	OMIM:614065
HP:0030236	Abnormality of muscle size	8905	AP1S2	ORPHA:85335
HP:0030236	Abnormality of muscle size	8905	AP1S2	ORPHA:85329
HP:0030236	Abnormality of muscle size	8363	H4C11	OMIM:619759
HP:0030236	Abnormality of muscle size	54902	TTC19	OMIM:615157
HP:0030236	Abnormality of muscle size	11340	EXOSC8	ORPHA:2254
HP:0030236	Abnormality of muscle size	11340	EXOSC8	OMIM:616081
HP:0030236	Abnormality of muscle size	23287	AGTPBP1	ORPHA:2254
HP:0030236	Abnormality of muscle size	23287	AGTPBP1	OMIM:618276
HP:0030236	Abnormality of muscle size	51010	EXOSC3	ORPHA:2254
HP:0030236	Abnormality of muscle size	51010	EXOSC3	OMIM:614678
HP:0030236	Abnormality of muscle size	7443	VRK1	ORPHA:2254
HP:0030236	Abnormality of muscle size	91137	SLC25A46	ORPHA:2254
HP:0030236	Abnormality of muscle size	4191	MDH2	OMIM:617339
HP:0030236	Abnormality of muscle size	7486	WRN	ORPHA:902
HP:0030236	Abnormality of muscle size	6609	SMPD1	OMIM:257200
HP:0030236	Abnormality of muscle size	472	ATM	ORPHA:100
HP:0030236	Abnormality of muscle size	10613	ERLIN1	ORPHA:401785
HP:0030236	Abnormality of muscle size	10613	ERLIN1	OMIM:615681
HP:0030236	Abnormality of muscle size	26137	ZBTB20	OMIM:259050
HP:0030236	Abnormality of muscle size	10280	SIGMAR1	ORPHA:300605
HP:0030236	Abnormality of muscle size	10558	SPTLC1	ORPHA:300605
HP:0030236	Abnormality of muscle size	10558	SPTLC1	OMIM:162400
HP:0030236	Abnormality of muscle size	6305	SBF1	OMIM:615284
HP:0030236	Abnormality of muscle size	9896	FIG4	OMIM:612577
HP:0030236	Abnormality of muscle size	9896	FIG4	ORPHA:803
HP:0030236	Abnormality of muscle size	11149	BVES	OMIM:616812
HP:0030236	Abnormality of muscle size	23396	PIP5K1C	OMIM:611369
HP:0030236	Abnormality of muscle size	9562	MINPP1	OMIM:619527
HP:0030236	Abnormality of muscle size	9562	MINPP1	ORPHA:284339
HP:0030236	Abnormality of muscle size	2065	ERBB3	OMIM:607598
HP:0030236	Abnormality of muscle size	6310	ATXN1	ORPHA:98755
HP:0030236	Abnormality of muscle size	6310	ATXN1	OMIM:164400
HP:0030236	Abnormality of muscle size	34	ACADM	ORPHA:42
HP:0030236	Abnormality of muscle size	5213	PFKM	ORPHA:371
HP:0030236	Abnormality of muscle size	339855	KY	OMIM:617114
HP:0030236	Abnormality of muscle size	6389	SDHA	ORPHA:3208
HP:0030236	Abnormality of muscle size	644096	SDHAF1	ORPHA:3208
HP:0030236	Abnormality of muscle size	7317	UBA1	ORPHA:1145
HP:0030236	Abnormality of muscle size	55681	SCYL2	ORPHA:1143
HP:0030236	Abnormality of muscle size	84570	COL25A1	ORPHA:1143
HP:0030236	Abnormality of muscle size	84317	CCDC115	OMIM:616828
HP:0030236	Abnormality of muscle size	3339	HSPG2	OMIM:255800
HP:0030236	Abnormality of muscle size	3339	HSPG2	ORPHA:800
HP:0030236	Abnormality of muscle size	3954	LETM1	OMIM:620089
HP:0030236	Abnormality of muscle size	25978	CHMP2B	ORPHA:803
HP:0030236	Abnormality of muscle size	8148	TAF15	ORPHA:803
HP:0030236	Abnormality of muscle size	5445	PON2	ORPHA:803
HP:0030236	Abnormality of muscle size	5630	PRPH	ORPHA:803
HP:0030236	Abnormality of muscle size	5630	PRPH	OMIM:105400
HP:0030236	Abnormality of muscle size	55830	GLT8D1	ORPHA:803
HP:0030236	Abnormality of muscle size	755	CFAP410	ORPHA:803
HP:0030236	Abnormality of muscle size	10891	PPARGC1A	ORPHA:803
HP:0030236	Abnormality of muscle size	6647	SOD1	ORPHA:803
HP:0030236	Abnormality of muscle size	6647	SOD1	OMIM:105400
HP:0030236	Abnormality of muscle size	10133	OPTN	ORPHA:803
HP:0030236	Abnormality of muscle size	1639	DCTN1	ORPHA:803
HP:0030236	Abnormality of muscle size	1639	DCTN1	OMIM:105400
HP:0030236	Abnormality of muscle size	5444	PON1	ORPHA:803
HP:0030236	Abnormality of muscle size	5446	PON3	ORPHA:803
HP:0030236	Abnormality of muscle size	4744	NEFH	ORPHA:803
HP:0030236	Abnormality of muscle size	4744	NEFH	OMIM:105400
HP:0030236	Abnormality of muscle size	5216	PFN1	ORPHA:803
HP:0030236	Abnormality of muscle size	5216	PFN1	OMIM:614808
HP:0030236	Abnormality of muscle size	9782	MATR3	ORPHA:803
HP:0030236	Abnormality of muscle size	54209	TREM2	ORPHA:803
HP:0030236	Abnormality of muscle size	283	ANG	ORPHA:803
HP:0030236	Abnormality of muscle size	29978	UBQLN2	ORPHA:803
HP:0030236	Abnormality of muscle size	2733	GLE1	ORPHA:803
HP:0030236	Abnormality of muscle size	2733	GLE1	ORPHA:1486
HP:0030236	Abnormality of muscle size	2733	GLE1	OMIM:253310
HP:0030236	Abnormality of muscle size	2733	GLE1	OMIM:611890
HP:0030236	Abnormality of muscle size	2043	EPHA4	ORPHA:803
HP:0030236	Abnormality of muscle size	6311	ATXN2	ORPHA:803
HP:0030236	Abnormality of muscle size	1610	DAO	ORPHA:803
HP:0030236	Abnormality of muscle size	2066	ERBB4	ORPHA:803
HP:0030236	Abnormality of muscle size	311	ANXA11	ORPHA:803
HP:0030236	Abnormality of muscle size	23025	UNC13A	ORPHA:803
HP:0030236	Abnormality of muscle size	899	CCNF	ORPHA:803
HP:0030236	Abnormality of muscle size	84295	PHF6	ORPHA:127
HP:0030236	Abnormality of muscle size	5837	PYGM	ORPHA:368
HP:0030236	Abnormality of muscle size	23479	ISCU	OMIM:255125
HP:0030236	Abnormality of muscle size	367	AR	ORPHA:481
HP:0030236	Abnormality of muscle size	4509	MT-ATP8	ORPHA:480
HP:0030236	Abnormality of muscle size	4567	MT-TL1	ORPHA:480
HP:0030236	Abnormality of muscle size	58497	PRUNE1	OMIM:617481
HP:0030236	Abnormality of muscle size	3991	LIPE	OMIM:615980
HP:0030236	Abnormality of muscle size	5256	PHKA2	ORPHA:264580
HP:0030236	Abnormality of muscle size	5261	PHKG2	ORPHA:264580
HP:0030236	Abnormality of muscle size	57716	PRX	OMIM:614895
HP:0030236	Abnormality of muscle size	3679	ITGA7	OMIM:613204
HP:0030236	Abnormality of muscle size	5081	PAX7	OMIM:618578
HP:0030236	Abnormality of muscle size	4204	MECP2	OMIM:312750
HP:0030236	Abnormality of muscle size	4204	MECP2	ORPHA:778
HP:0030236	Abnormality of muscle size	63895	PIEZO2	ORPHA:2461
HP:0030236	Abnormality of muscle size	57410	SCYL1	OMIM:616719
HP:0030236	Abnormality of muscle size	5830	PEX5	OMIM:616716
HP:0030236	Abnormality of muscle size	389827	MYMK	OMIM:254940
HP:0030236	Abnormality of muscle size	389827	MYMK	ORPHA:1358
HP:0030236	Abnormality of muscle size	8803	SUCLA2	ORPHA:1933
HP:0030236	Abnormality of muscle size	8803	SUCLA2	OMIM:612073
HP:0030236	Abnormality of muscle size	10075	HUWE1	OMIM:309590
HP:0030236	Abnormality of muscle size	91949	COG7	OMIM:608779
HP:0030236	Abnormality of muscle size	10059	DNM1L	ORPHA:330050
HP:0030236	Abnormality of muscle size	10059	DNM1L	ORPHA:98673
HP:0030236	Abnormality of muscle size	126129	CPT1C	OMIM:616282
HP:0030236	Abnormality of muscle size	160418	TMTC3	OMIM:617255
HP:0030236	Abnormality of muscle size	8506	CNTNAP1	OMIM:616286
HP:0030236	Abnormality of muscle size	123606	NIPA1	ORPHA:100988
HP:0030236	Abnormality of muscle size	270	AMPD1	OMIM:615511
HP:0030236	Abnormality of muscle size	2632	GBE1	OMIM:232500
HP:0030236	Abnormality of muscle size	7167	TPI1	OMIM:615512
HP:0030236	Abnormality of muscle size	7167	TPI1	ORPHA:868
HP:0030236	Abnormality of muscle size	132	ADK	OMIM:614300
HP:0030236	Abnormality of muscle size	4720	NDUFS2	OMIM:618228
HP:0030236	Abnormality of muscle size	203547	VMA21	OMIM:310440
HP:0030236	Abnormality of muscle size	27235	COQ2	OMIM:146500
HP:0030236	Abnormality of muscle size	113235	SLC46A1	ORPHA:90045
HP:0030236	Abnormality of muscle size	60482	SLC5A7	OMIM:617143
HP:0030236	Abnormality of muscle size	3714	JAG2	OMIM:619566
HP:0030236	Abnormality of muscle size	1294	COL7A1	ORPHA:89842
HP:0030236	Abnormality of muscle size	137682	NDUFAF6	OMIM:618239
HP:0030236	Abnormality of muscle size	55033	FKBP14	OMIM:614557
HP:0030236	Abnormality of muscle size	55033	FKBP14	ORPHA:300179
HP:0030236	Abnormality of muscle size	84892	POMGNT2	ORPHA:899
HP:0030236	Abnormality of muscle size	148789	B3GALNT2	ORPHA:899
HP:0030236	Abnormality of muscle size	1282	COL4A1	ORPHA:899
HP:0030236	Abnormality of muscle size	10329	RXYLT1	ORPHA:899
HP:0030236	Abnormality of muscle size	1605	DAG1	ORPHA:899
HP:0030236	Abnormality of muscle size	11041	B4GAT1	ORPHA:899
HP:0030236	Abnormality of muscle size	101929726	MYMX	ORPHA:1358
HP:0030236	Abnormality of muscle size	6904	TBCD	ORPHA:496641
HP:0030236	Abnormality of muscle size	6904	TBCD	OMIM:617193
HP:0030236	Abnormality of muscle size	427	ASAH1	OMIM:159950
HP:0030236	Abnormality of muscle size	427	ASAH1	ORPHA:333
HP:0030236	Abnormality of muscle size	4976	OPA1	ORPHA:98673
HP:0030236	Abnormality of muscle size	4976	OPA1	OMIM:616896
HP:0030236	Abnormality of muscle size	5980	REV3L	ORPHA:570
HP:0030236	Abnormality of muscle size	23129	PLXND1	ORPHA:570
HP:0030236	Abnormality of muscle size	2316	FLNA	OMIM:305620
HP:0030236	Abnormality of muscle size	55967	NDUFA12	OMIM:618244
HP:0030236	Abnormality of muscle size	6331	SCN5A	ORPHA:1344
HP:0030236	Abnormality of muscle size	4878	NPPA	ORPHA:1344
HP:0030236	Abnormality of muscle size	4358	MPV17	OMIM:256810
HP:0030236	Abnormality of muscle size	10616	RBCK1	OMIM:615895
HP:0030236	Abnormality of muscle size	51008	ASCC1	OMIM:616867
HP:0030236	Abnormality of muscle size	29920	PYCR2	ORPHA:481152
HP:0030236	Abnormality of muscle size	29920	PYCR2	OMIM:616420
HP:0030236	Abnormality of muscle size	5257	PHKB	ORPHA:79240
HP:0030236	Abnormality of muscle size	291	SLC25A4	OMIM:615418
HP:0030236	Abnormality of muscle size	2010	EMD	OMIM:310300
HP:0030236	Abnormality of muscle size	259232	NALCN	OMIM:615419
HP:0030236	Abnormality of muscle size	3913	LAMB2	OMIM:609049
HP:0030236	Abnormality of muscle size	3913	LAMB2	ORPHA:98915
HP:0030236	Abnormality of muscle size	9056	SLC7A7	OMIM:222700
HP:0030236	Abnormality of muscle size	2583	B4GALNT1	ORPHA:101006
HP:0030236	Abnormality of muscle size	23111	SPART	ORPHA:101000
HP:0030236	Abnormality of muscle size	6329	SCN4A	ORPHA:682
HP:0030236	Abnormality of muscle size	6329	SCN4A	ORPHA:98913
HP:0030236	Abnormality of muscle size	6329	SCN4A	OMIM:608390
HP:0030236	Abnormality of muscle size	8091	HMGA2	ORPHA:94063
HP:0030236	Abnormality of muscle size	23592	LEMD3	ORPHA:94063
HP:0030236	Abnormality of muscle size	4507	MTAP	OMIM:112250
HP:0030236	Abnormality of muscle size	51300	TIMMDC1	OMIM:618251
HP:0030236	Abnormality of muscle size	4714	NDUFB8	OMIM:618252
HP:0030236	Abnormality of muscle size	390594	KBTBD13	OMIM:609273
HP:0030236	Abnormality of muscle size	4287	ATXN3	ORPHA:276238
HP:0030236	Abnormality of muscle size	4287	ATXN3	ORPHA:276244
HP:0030236	Abnormality of muscle size	4287	ATXN3	ORPHA:276241
HP:0030236	Abnormality of muscle size	1756	DMD	ORPHA:98895
HP:0030236	Abnormality of muscle size	1756	DMD	ORPHA:98896
HP:0030236	Abnormality of muscle size	8425	LTBP4	ORPHA:98896
HP:0030236	Abnormality of muscle size	28982	FLVCR1	OMIM:609033
HP:0030236	Abnormality of muscle size	11285	B4GALT7	ORPHA:75496
HP:0030236	Abnormality of muscle size	6197	RPS6KA3	ORPHA:192
HP:0030236	Abnormality of muscle size	246329	STAC3	ORPHA:168572
HP:0030236	Abnormality of muscle size	246329	STAC3	OMIM:255995
HP:0030236	Abnormality of muscle size	203228	C9orf72	OMIM:105550
HP:0030236	Abnormality of muscle size	23064	SETX	ORPHA:357043
HP:0030236	Abnormality of muscle size	953	ENTPD1	OMIM:615683
HP:0030236	Abnormality of muscle size	23230	VPS13A	OMIM:200150
HP:0030236	Abnormality of muscle size	8292	COLQ	ORPHA:98915
HP:0030236	Abnormality of muscle size	4604	MYBPC1	OMIM:614915
HP:0030236	Abnormality of muscle size	1134	CHRNA1	ORPHA:98913
HP:0030236	Abnormality of muscle size	4038	LRP4	ORPHA:98913
HP:0030236	Abnormality of muscle size	1305	COL13A1	ORPHA:98913
HP:0030236	Abnormality of muscle size	1140	CHRNB1	ORPHA:98913
HP:0030236	Abnormality of muscle size	1140	CHRNB1	OMIM:616313
HP:0030236	Abnormality of muscle size	1144	CHRND	ORPHA:98913
HP:0030236	Abnormality of muscle size	375790	AGRN	ORPHA:98913
HP:0030236	Abnormality of muscle size	221264	AK9	ORPHA:98913
HP:0030236	Abnormality of muscle size	5296	PIK3R2	OMIM:603387
HP:0030236	Abnormality of muscle size	5264	PHYH	ORPHA:773
HP:0030236	Abnormality of muscle size	5191	PEX7	ORPHA:773
HP:0030236	Abnormality of muscle size	3094	HINT1	OMIM:137200
HP:0030236	Abnormality of muscle size	1493	CTLA4	ORPHA:3162
HP:0030236	Abnormality of muscle size	940	CD28	ORPHA:3162
HP:0030236	Abnormality of muscle size	7133	TNFRSF1B	ORPHA:3162
HP:0030236	Abnormality of muscle size	119559	SFXN4	OMIM:615578
HP:0030236	Abnormality of muscle size	4724	NDUFS4	OMIM:252010
HP:0030236	Abnormality of muscle size	60386	SLC25A19	OMIM:613710
HP:0030236	Abnormality of muscle size	5430	POLR2A	OMIM:618603
HP:0030236	Abnormality of muscle size	4683	NBN	ORPHA:647
HP:0030236	Abnormality of muscle size	4621	MYH3	ORPHA:2990
HP:0030236	Abnormality of muscle size	1146	CHRNG	ORPHA:2990
HP:0030236	Abnormality of muscle size	5354	PLP1	OMIM:312920
HP:0030236	Abnormality of muscle size	23299	BICD2	OMIM:618291
HP:0030236	Abnormality of muscle size	22978	NT5C2	OMIM:613162
HP:0030236	Abnormality of muscle size	51776	MAP3K20	OMIM:617760
HP:0030236	Abnormality of muscle size	16	AARS1	OMIM:613287
HP:0030236	Abnormality of muscle size	87178	PNPT1	OMIM:614932
HP:0030236	Abnormality of muscle size	90523	MLIP	OMIM:620138
HP:0030236	Abnormality of muscle size	50846	DHH	ORPHA:168563
HP:0030236	Abnormality of muscle size	2617	GARS1	OMIM:600794
HP:0030236	Abnormality of muscle size	2617	GARS1	ORPHA:139536
HP:0030236	Abnormality of muscle size	2617	GARS1	OMIM:601472
HP:0030236	Abnormality of muscle size	1311	COMP	OMIM:619161
HP:0030236	Abnormality of muscle size	91252	SLC39A13	ORPHA:157965
HP:0030236	Abnormality of muscle size	91252	SLC39A13	OMIM:612350
HP:0030236	Abnormality of muscle size	5376	PMP22	OMIM:118300
HP:0030236	Abnormality of muscle size	8985	PLOD3	OMIM:612394
HP:0030236	Abnormality of muscle size	26580	BSCL2	OMIM:619112
HP:0030236	Abnormality of muscle size	26580	BSCL2	ORPHA:139536
HP:0030236	Abnormality of muscle size	26580	BSCL2	OMIM:270685
HP:0030236	Abnormality of muscle size	8884	SLC5A6	OMIM:619903
HP:0030236	Abnormality of muscle size	5165	PDK3	ORPHA:352675
HP:0030236	Abnormality of muscle size	65055	REEP1	OMIM:614751
HP:0030236	Abnormality of muscle size	65055	REEP1	ORPHA:139536
HP:0030236	Abnormality of muscle size	4703	NEB	OMIM:256030
HP:0030236	Abnormality of muscle size	3710	ITPR3	OMIM:620111
HP:0030236	Abnormality of muscle size	3425	IDUA	OMIM:607015
HP:0030236	Abnormality of muscle size	80208	SPG11	OMIM:604360
HP:0030236	Abnormality of muscle size	8729	GBF1	OMIM:606483
HP:0030236	Abnormality of muscle size	10749	KIF1C	ORPHA:397946
HP:0030236	Abnormality of muscle size	10749	KIF1C	OMIM:611302
HP:0030236	Abnormality of muscle size	7072	TIA1	OMIM:604454
HP:0030236	Abnormality of muscle size	23769	FLRT1	ORPHA:320406
HP:0030236	Abnormality of muscle size	64837	KLC2	ORPHA:320406
HP:0030236	Abnormality of muscle size	64837	KLC2	OMIM:609541
HP:0030236	Abnormality of muscle size	6683	SPAST	ORPHA:100985
HP:0030236	Abnormality of muscle size	112	ADCY6	OMIM:616287
HP:0030236	Abnormality of muscle size	4311	MME	OMIM:617018
HP:0030236	Abnormality of muscle size	4311	MME	ORPHA:497764
HP:0030236	Abnormality of muscle size	50717	DCAF8	OMIM:610100
HP:0030236	Abnormality of muscle size	57704	GBA2	ORPHA:352641
HP:0030236	Abnormality of muscle size	19	ABCA1	OMIM:205400
HP:0030236	Abnormality of muscle size	55775	TDP1	ORPHA:94124
HP:0030236	Abnormality of muscle size	55775	TDP1	OMIM:607250
HP:0030236	Abnormality of muscle size	10516	FBLN5	OMIM:608895
HP:0030236	Abnormality of muscle size	7879	RAB7A	OMIM:600882
HP:0030236	Abnormality of muscle size	200205	IBA57	ORPHA:468661
HP:0030236	Abnormality of muscle size	1959	EGR2	OMIM:607678
HP:0030236	Abnormality of muscle size	1959	EGR2	OMIM:605253
HP:0030236	Abnormality of muscle size	1959	EGR2	OMIM:145900
HP:0030236	Abnormality of muscle size	10743	RAI1	ORPHA:477817
HP:0030236	Abnormality of muscle size	56704	JPH1	OMIM:607831
HP:0030236	Abnormality of muscle size	10397	NDRG1	OMIM:601455
HP:0030236	Abnormality of muscle size	55187	VPS13D	OMIM:607317
HP:0030236	Abnormality of muscle size	538	ATP7A	OMIM:300489
HP:0030236	Abnormality of muscle size	6905	TBCE	ORPHA:496756
HP:0030236	Abnormality of muscle size	6905	TBCE	OMIM:617207
HP:0030236	Abnormality of muscle size	80347	COASY	OMIM:615643
HP:0030236	Abnormality of muscle size	90678	LRSAM1	OMIM:614436
HP:0030236	Abnormality of muscle size	3508	IGHMBP2	OMIM:604320
HP:0030236	Abnormality of muscle size	81846	SBF2	OMIM:604563
HP:0030236	Abnormality of muscle size	4704	NDUFA9	OMIM:618247
HP:0030236	Abnormality of muscle size	55154	MSTO1	OMIM:617675
HP:0030236	Abnormality of muscle size	55906	ZC4H2	OMIM:314580
HP:0030236	Abnormality of muscle size	55906	ZC4H2	ORPHA:3454
HP:0030236	Abnormality of muscle size	3035	HARS1	OMIM:616625
HP:0030236	Abnormality of muscle size	29967	LRP12	OMIM:164310
HP:0030236	Abnormality of muscle size	4361	MRE11	OMIM:604391
HP:0030236	Abnormality of muscle size	9499	MYOT	OMIM:609200
HP:0030236	Abnormality of muscle size	9499	MYOT	ORPHA:98911
HP:0030236	Abnormality of muscle size	10939	AFG3L2	ORPHA:313772
HP:0030236	Abnormality of muscle size	10939	AFG3L2	OMIM:614487
HP:0030236	Abnormality of muscle size	26278	SACS	ORPHA:98
HP:0030236	Abnormality of muscle size	26278	SACS	OMIM:270550
HP:0030236	Abnormality of muscle size	51651	PTRH2	ORPHA:456312
HP:0030236	Abnormality of muscle size	83636	C19orf12	OMIM:614298
HP:0030236	Abnormality of muscle size	83636	C19orf12	OMIM:615043
HP:0030236	Abnormality of muscle size	26090	ABHD12	OMIM:612674
HP:0030236	Abnormality of muscle size	88	ACTN2	OMIM:618655
HP:0030236	Abnormality of muscle size	54840	APTX	OMIM:208920
HP:0030236	Abnormality of muscle size	9927	MFN2	OMIM:601152
HP:0030236	Abnormality of muscle size	9927	MFN2	OMIM:609260
HP:0030236	Abnormality of muscle size	25923	ATL3	ORPHA:36386
HP:0030236	Abnormality of muscle size	9517	SPTLC2	ORPHA:36386
HP:0030236	Abnormality of muscle size	51062	ATL1	ORPHA:36386
HP:0030236	Abnormality of muscle size	81857	MED25	OMIM:605589
HP:0030236	Abnormality of muscle size	65260	COA7	OMIM:618387
HP:0030236	Abnormality of muscle size	22948	CCT5	ORPHA:139578
HP:0030236	Abnormality of muscle size	22948	CCT5	OMIM:256840
HP:0030236	Abnormality of muscle size	1593	CYP27A1	ORPHA:909
HP:0030236	Abnormality of muscle size	57863	CADM3	OMIM:619519
HP:0030236	Abnormality of muscle size	1890	TYMP	OMIM:603041
HP:0030236	Abnormality of muscle size	8898	MTMR2	OMIM:601382
HP:0030236	Abnormality of muscle size	23503	ZFYVE26	OMIM:270700
HP:0030236	Abnormality of muscle size	23503	ZFYVE26	ORPHA:100996
HP:0030236	Abnormality of muscle size	55210	ATAD3A	OMIM:617183
HP:0030236	Abnormality of muscle size	476	ATP1A1	OMIM:618036
HP:0030236	Abnormality of muscle size	5375	PMP2	OMIM:618279
HP:0030236	Abnormality of muscle size	23095	KIF1B	OMIM:118210
HP:0030236	Abnormality of muscle size	5192	PEX10	OMIM:614871
HP:0030236	Abnormality of muscle size	4649	MYO9A	ORPHA:98914
HP:0030236	Abnormality of muscle size	1103	CHAT	ORPHA:98914
HP:0030236	Abnormality of muscle size	6576	SLC25A1	ORPHA:98914
HP:0030236	Abnormality of muscle size	6616	SNAP25	ORPHA:98914
HP:0030236	Abnormality of muscle size	11261	CHP1	OMIM:618438
HP:0030236	Abnormality of muscle size	6663	SOX10	OMIM:609136
HP:0030236	Abnormality of muscle size	8565	YARS1	OMIM:608323
HP:0030236	Abnormality of muscle size	9516	LITAF	OMIM:601098
HP:0030236	Abnormality of muscle size	9147	NEMF	OMIM:619099
HP:0030236	Abnormality of muscle size	178	AGL	OMIM:232400
HP:0030236	Abnormality of muscle size	10273	STUB1	ORPHA:412057
HP:0030236	Abnormality of muscle size	79784	MYH14	OMIM:614369
HP:0030236	Abnormality of muscle size	23533	PIK3R5	OMIM:615217
HP:0030236	Abnormality of muscle size	26353	HSPB8	OMIM:608673
HP:0030236	Abnormality of muscle size	3098	HK1	ORPHA:99953
HP:0030236	Abnormality of muscle size	8139	GAN	OMIM:256850
HP:0030236	Abnormality of muscle size	79628	SH3TC2	OMIM:601596
HP:0030236	Abnormality of muscle size	79628	SH3TC2	ORPHA:99949
HP:0030236	Abnormality of muscle size	57449	PLEKHG5	OMIM:611067
HP:0030236	Abnormality of muscle size	274	BIN1	ORPHA:169186
HP:0030236	Abnormality of muscle size	274	BIN1	OMIM:255200
HP:0030236	Abnormality of muscle size	10290	SPEG	ORPHA:169186
HP:0030236	Abnormality of muscle size	7273	TTN	ORPHA:169186
HP:0030236	Abnormality of muscle size	7273	TTN	ORPHA:324604
HP:0030236	Abnormality of muscle size	4927	NUP88	ORPHA:994
HP:0030236	Abnormality of muscle size	7846	TUBA1A	ORPHA:994
HP:0030236	Abnormality of muscle size	4654	MYOD1	ORPHA:994
HP:0030236	Abnormality of muscle size	4593	MUSK	ORPHA:994
HP:0030236	Abnormality of muscle size	4593	MUSK	OMIM:208150
HP:0030236	Abnormality of muscle size	5913	RAPSN	ORPHA:994
HP:0030236	Abnormality of muscle size	6572	SLC18A3	ORPHA:994
HP:0030236	Abnormality of muscle size	57190	SELENON	ORPHA:324604
HP:0030236	Abnormality of muscle size	57190	SELENON	OMIM:602771
HP:0030236	Abnormality of muscle size	55131	RBM28	ORPHA:157954
HP:0030236	Abnormality of muscle size	1291	COL6A1	OMIM:254090
HP:0030236	Abnormality of muscle size	1291	COL6A1	ORPHA:75840
HP:0030236	Abnormality of muscle size	1291	COL6A1	ORPHA:610
HP:0030236	Abnormality of muscle size	1292	COL6A2	OMIM:254090
HP:0030236	Abnormality of muscle size	1292	COL6A2	ORPHA:75840
HP:0030236	Abnormality of muscle size	1292	COL6A2	ORPHA:610
HP:0030236	Abnormality of muscle size	1293	COL6A3	OMIM:254090
HP:0030236	Abnormality of muscle size	1293	COL6A3	ORPHA:75840
HP:0030236	Abnormality of muscle size	1293	COL6A3	ORPHA:610
HP:0030236	Abnormality of muscle size	1763	DNA2	OMIM:615156
HP:0030236	Abnormality of muscle size	100996717	NOTCH2NLC	OMIM:619473
HP:0030236	Abnormality of muscle size	5393	EXOSC9	OMIM:618065
HP:0030236	Abnormality of muscle size	79912	PYROXD1	OMIM:617258
HP:0030236	Abnormality of muscle size	4967	OGDH	OMIM:203740
HP:0030236	Abnormality of muscle size	7415	VCP	OMIM:167320
HP:0030236	Abnormality of muscle size	7415	VCP	ORPHA:275872
HP:0030236	Abnormality of muscle size	7415	VCP	ORPHA:52430
HP:0030236	Abnormality of muscle size	5428	POLG	OMIM:258450
HP:0030236	Abnormality of muscle size	5428	POLG	OMIM:607459
HP:0030236	Abnormality of muscle size	11128	POLR3A	OMIM:264090
HP:0030236	Abnormality of muscle size	8878	SQSTM1	ORPHA:275872
HP:0030236	Abnormality of muscle size	23435	TARDBP	ORPHA:275872
HP:0030236	Abnormality of muscle size	29110	TBK1	ORPHA:275872
HP:0030236	Abnormality of muscle size	400916	CHCHD10	ORPHA:275872
HP:0030236	Abnormality of muscle size	79581	SLC52A2	OMIM:614707
HP:0030236	Abnormality of muscle size	1303	COL12A1	ORPHA:75840
HP:0030236	Abnormality of muscle size	1303	COL12A1	ORPHA:610
HP:0030236	Abnormality of muscle size	80055	PGAP1	ORPHA:401820
HP:0030236	Abnormality of muscle size	6567	SLC16A2	OMIM:300523
HP:0030236	Abnormality of muscle size	81790	RNF170	OMIM:619686
HP:0030236	Abnormality of muscle size	55152	DALRD3	OMIM:618910
HP:0030236	Abnormality of muscle size	54820	NDE1	OMIM:605013
HP:0030236	Abnormality of muscle size	3178	HNRNPA1	ORPHA:52430
HP:0030236	Abnormality of muscle size	3181	HNRNPA2B1	ORPHA:52430
HP:0030236	Abnormality of muscle size	6843	VAMP1	OMIM:618323
HP:0030236	Abnormality of muscle size	6843	VAMP1	ORPHA:251282
HP:0030236	Abnormality of muscle size	2859	GPR35	ORPHA:171
HP:0030236	Abnormality of muscle size	10507	SEMA4D	ORPHA:171
HP:0030236	Abnormality of muscle size	4485	MST1	ORPHA:171
HP:0030236	Abnormality of muscle size	6925	TCF4	ORPHA:171
HP:0030236	Abnormality of muscle size	3920	LAMP2	OMIM:300257
HP:0030236	Abnormality of muscle size	84823	LMNB2	OMIM:616540
HP:0030236	Abnormality of muscle size	84665	MYPN	ORPHA:171881
HP:0030236	Abnormality of muscle size	7169	TPM2	ORPHA:171881
HP:0030236	Abnormality of muscle size	7170	TPM3	ORPHA:171881
HP:0030236	Abnormality of muscle size	146862	UNC45B	OMIM:619178
HP:0030236	Abnormality of muscle size	4668	NAGA	OMIM:609241
HP:0030236	Abnormality of muscle size	4668	NAGA	ORPHA:79279
HP:0030236	Abnormality of muscle size	7084	TK2	OMIM:609560
HP:0030236	Abnormality of muscle size	10352	WARS2	OMIM:617710
HP:0030236	Abnormality of muscle size	10352	WARS2	ORPHA:572798
HP:0030236	Abnormality of muscle size	131118	DNAJC19	ORPHA:66634
HP:0030236	Abnormality of muscle size	9325	TRIP4	OMIM:616866
HP:0030236	Abnormality of muscle size	36	ACADSB	OMIM:610006
HP:0030236	Abnormality of muscle size	57731	SPTBN4	OMIM:617519
HP:0030236	Abnormality of muscle size	5832	ALDH18A1	OMIM:601162
HP:0030236	Abnormality of muscle size	56652	TWNK	OMIM:607459
HP:0030236	Abnormality of muscle size	205327	C2orf69	OMIM:619423
HP:0030236	Abnormality of muscle size	51067	YARS2	OMIM:613561
HP:0030236	Abnormality of muscle size	9531	BAG3	OMIM:612954
HP:0030236	Abnormality of muscle size	5277	PIGA	OMIM:301072
HP:0030236	Abnormality of muscle size	3703	STT3A	OMIM:619714
HP:0030236	Abnormality of muscle size	6473	SHOX	OMIM:127300
HP:0030236	Abnormality of muscle size	6473	SHOX	ORPHA:314795
HP:0030236	Abnormality of muscle size	5631	PRPS1	ORPHA:99014
HP:0030236	Abnormality of muscle size	63924	CIDEC	ORPHA:435651
HP:0030236	Abnormality of muscle size	487	ATP2A1	OMIM:601003
HP:0030236	Abnormality of muscle size	2660	MSTN	OMIM:614160
HP:0030236	Abnormality of muscle size	5346	PLIN1	OMIM:613877
HP:0030236	Abnormality of muscle size	372	ARCN1	OMIM:617164
HP:0030236	Abnormality of muscle size	4089	SMAD4	OMIM:139210
HP:0030236	Abnormality of muscle size	9839	ZEB2	OMIM:235730
HP:0030236	Abnormality of muscle size	1716	DGUOK	ORPHA:329314
HP:0030236	Abnormality of muscle size	22880	MORC2	ORPHA:466768
HP:0030236	Abnormality of muscle size	79147	FKRP	ORPHA:370980
HP:0030236	Abnormality of muscle size	2218	FKTN	ORPHA:370980
HP:0030236	Abnormality of muscle size	729920	CRPPA	ORPHA:370980
HP:0030236	Abnormality of muscle size	10585	POMT1	ORPHA:370980
HP:0030236	Abnormality of muscle size	6442	SGCA	OMIM:608099
HP:0030236	Abnormality of muscle size	60684	TRAPPC11	ORPHA:369840
HP:0030236	Abnormality of muscle size	60684	TRAPPC11	ORPHA:369847
HP:0030236	Abnormality of muscle size	60684	TRAPPC11	OMIM:615356
HP:0030236	Abnormality of muscle size	56983	POGLUT1	OMIM:617232
HP:0030236	Abnormality of muscle size	9987	HNRNPDL	OMIM:609115
HP:0030236	Abnormality of muscle size	54344	DPM3	OMIM:612937
HP:0030236	Abnormality of muscle size	6444	SGCD	OMIM:601287
HP:0030236	Abnormality of muscle size	84196	USP48	ORPHA:96253
HP:0030236	Abnormality of muscle size	7157	TP53	ORPHA:96253
HP:0030236	Abnormality of muscle size	9101	USP8	ORPHA:96253
HP:0030236	Abnormality of muscle size	64072	CDH23	ORPHA:96253
HP:0030236	Abnormality of muscle size	2908	NR3C1	ORPHA:96253
HP:0030236	Abnormality of muscle size	673	BRAF	ORPHA:96253
HP:0030236	Abnormality of muscle size	546	ATRX	ORPHA:96253
HP:0030236	Abnormality of muscle size	127833	SYT2	OMIM:616040
HP:0030236	Abnormality of muscle size	2521	FUS	OMIM:608030
HP:0030236	Abnormality of muscle size	79188	TMEM43	OMIM:614302
HP:0030236	Abnormality of muscle size	22954	TRIM32	OMIM:254110
HP:0030236	Abnormality of muscle size	5566	PRKACA	ORPHA:189439
HP:0030236	Abnormality of muscle size	8622	PDE8B	ORPHA:189439
HP:0030236	Abnormality of muscle size	5573	PRKAR1A	ORPHA:189439
HP:0030236	Abnormality of muscle size	50940	PDE11A	ORPHA:189439
HP:0030236	Abnormality of muscle size	2673	GFPT1	OMIM:610542
HP:0030236	Abnormality of muscle size	6606	SMN1	OMIM:271150
HP:0030236	Abnormality of muscle size	6606	SMN1	OMIM:253300
HP:0030236	Abnormality of muscle size	825	CAPN3	OMIM:618129
HP:0030236	Abnormality of muscle size	825	CAPN3	OMIM:253600
HP:0030236	Abnormality of muscle size	4625	MYH7	OMIM:255160
HP:0030236	Abnormality of muscle size	5190	PEX6	ORPHA:95433
HP:0030236	Abnormality of muscle size	9990	SLC12A6	OMIM:620068
HP:0030236	Abnormality of muscle size	7138	TNNT1	ORPHA:98902
HP:0030236	Abnormality of muscle size	7138	TNNT1	OMIM:605355
HP:0030236	Abnormality of muscle size	29954	POMT2	ORPHA:206559
HP:0030236	Abnormality of muscle size	9217	VAPB	OMIM:608627
HP:0030236	Abnormality of muscle size	9217	VAPB	OMIM:182980
HP:0030236	Abnormality of muscle size	7148	TNXB	OMIM:606408
HP:0030236	Abnormality of muscle size	1785	DNM2	OMIM:160150
HP:0030236	Abnormality of muscle size	64419	MTMR14	OMIM:160150
HP:0030236	Abnormality of muscle size	92667	MGME1	OMIM:615084
HP:0030236	Abnormality of muscle size	51763	INPP5K	OMIM:617404
HP:0030236	Abnormality of muscle size	79798	ARMC5	ORPHA:189427
HP:0030236	Abnormality of muscle size	2778	GNAS	ORPHA:189427
HP:0030236	Abnormality of muscle size	8291	DYSF	ORPHA:45448
HP:0030236	Abnormality of muscle size	23224	SYNE2	OMIM:612999
HP:0030236	Abnormality of muscle size	10342	TFG	OMIM:604484
HP:0030236	Abnormality of muscle size	6443	SGCB	OMIM:604286
HP:0030236	Abnormality of muscle size	23345	SYNE1	OMIM:612998
HP:0030236	Abnormality of muscle size	6786	STIM1	OMIM:160565
HP:0030236	Abnormality of muscle size	285489	DOK7	OMIM:254300
HP:0030236	Abnormality of muscle size	59345	GNB4	OMIM:615185
HP:0030236	Abnormality of muscle size	7143	TNR	OMIM:619653
HP:0030236	Abnormality of muscle size	65250	CPLANE1	ORPHA:65684
HP:0030236	Abnormality of muscle size	57562	CEP126	ORPHA:65684
HP:0030236	Abnormality of muscle size	2705	GJB1	OMIM:302800
HP:0030236	Abnormality of muscle size	2705	GJB1	ORPHA:101075
HP:0030236	Abnormality of muscle size	8988	HSPB3	OMIM:613376
HP:0030236	Abnormality of muscle size	64423	INF2	OMIM:614455
HP:0030236	Abnormality of muscle size	7453	WARS1	OMIM:617721
HP:0030236	Abnormality of muscle size	10755	GIPC1	ORPHA:98897
HP:0030236	Abnormality of muscle size	26092	TOR1AIP1	OMIM:617072
HP:0030236	Abnormality of muscle size	340075	ARSI	ORPHA:401815
HP:0030236	Abnormality of muscle size	340533	NEXMIF	OMIM:300912
HP:0030236	Abnormality of muscle size	9255	AIMP1	OMIM:260600
HP:0030236	Abnormality of muscle size	64856	VWA1	OMIM:619216
HP:0030236	Abnormality of muscle size	6253	RTN2	ORPHA:100993
HP:0030236	Abnormality of muscle size	51271	UBAP1	ORPHA:100993
HP:0030236	Abnormality of muscle size	8566	PDXK	OMIM:618511
HP:0030236	Abnormality of muscle size	10667	FARS2	OMIM:617046
HP:0030236	Abnormality of muscle size	10667	FARS2	ORPHA:466722
HP:0030236	Abnormality of muscle size	84668	HYCC1	OMIM:610532
HP:0030236	Abnormality of muscle size	128486	FITM2	OMIM:618635
HP:0030236	Abnormality of muscle size	1778	DYNC1H1	OMIM:158600
HP:0030236	Abnormality of muscle size	3300	DNAJB2	OMIM:614881
HP:0030236	Abnormality of muscle size	81545	FBXO38	OMIM:615575
HP:0030236	Abnormality of muscle size	51305	KCNK9	ORPHA:166108
HP:0030236	Abnormality of muscle size	7528	YY1	ORPHA:506358
HP:0030236	Abnormality of muscle size	4099	MAG	OMIM:616680
HP:0030236	Abnormality of muscle size	4099	MAG	ORPHA:459056
HP:0030236	Abnormality of muscle size	8242	KDM5C	OMIM:300534
HP:0030236	Abnormality of muscle size	3852	KRT5	ORPHA:79396
HP:0030236	Abnormality of muscle size	3861	KRT14	ORPHA:79396
HP:0030236	Abnormality of muscle size	121512	FGD4	OMIM:609311
HP:0030236	Abnormality of muscle size	6607	SMN2	OMIM:253400
HP:0030236	Abnormality of muscle size	2992	GYG1	OMIM:616199
HP:0030236	Abnormality of muscle size	8557	TCAP	OMIM:601954
HP:0030236	Abnormality of muscle size	9939	RBM8A	OMIM:274000
HP:0030236	Abnormality of muscle size	55768	NGLY1	OMIM:615273
HP:0030236	Abnormality of muscle size	23321	TRIM2	OMIM:615490
HP:0030236	Abnormality of muscle size	182	JAG1	OMIM:619574
HP:0030236	Abnormality of muscle size	374969	SVBP	OMIM:618569
HP:0030236	Abnormality of muscle size	1678	TIMM8A	OMIM:304700
HP:0030236	Abnormality of muscle size	55958	KLHL9	ORPHA:399081
HP:0030236	Abnormality of muscle size	11155	LDB3	ORPHA:98912
HP:0030236	Abnormality of muscle size	2201	FBN2	OMIM:121050
HP:0030236	Abnormality of muscle size	859	CAV3	ORPHA:488650
HP:0030236	Abnormality of muscle size	4000	LMNA	ORPHA:280365
HP:0030236	Abnormality of muscle size	6736	SRY	ORPHA:1772
HP:0030236	Abnormality of muscle size	5921	RASA1	ORPHA:90307
HP:0030236	Abnormality of muscle size	1180	CLCN1	OMIM:255700
HP:0030236	Abnormality of muscle size	10367	MICU1	OMIM:615673
HP:0030236	Abnormality of muscle size	4618	MYF6	ORPHA:169189
HP:0030236	Abnormality of muscle size	3736	KCNA1	ORPHA:37612
HP:0030236	Abnormality of muscle size	64208	POPDC3	OMIM:618848
HP:0030236	Abnormality of muscle size	8449	DHX16	OMIM:618733
HP:0030236	Abnormality of muscle size	79796	ALG9	ORPHA:79328
HP:0030236	Abnormality of muscle size	78989	COLEC11	OMIM:265050
HP:0030236	Abnormality of muscle size	4633	MYL2	ORPHA:2020
HP:0030236	Abnormality of muscle size	9200	HACD1	ORPHA:2020
HP:0030236	Abnormality of muscle size	3043	HBB	ORPHA:231226
HP:0030236	Abnormality of muscle size	3043	HBB	ORPHA:231214
HP:0030236	Abnormality of muscle size	55640	FLVCR2	OMIM:225790
HP:0030236	Abnormality of muscle size	23545	ATP6V0A2	OMIM:278250
HP:0030236	Abnormality of muscle size	6885	MAP3K7	ORPHA:1826
HP:0030236	Abnormality of muscle size	9897	WASHC5	ORPHA:100989
HP:0030236	Abnormality of muscle size	1674	DES	OMIM:181400
HP:0030236	Abnormality of muscle size	122622	ADSS1	ORPHA:482601
HP:0030236	Abnormality of muscle size	203859	ANO5	OMIM:613319
HP:0030236	Abnormality of muscle size	203859	ANO5	OMIM:611307
HP:0030236	Abnormality of muscle size	203859	ANO5	ORPHA:206549
HP:0030236	Abnormality of muscle size	80324	PUS1	OMIM:600462
HP:0030236	Abnormality of muscle size	80324	PUS1	ORPHA:2598
HP:0030236	Abnormality of muscle size	10908	PNPLA6	ORPHA:139480
HP:0030236	Abnormality of muscle size	833	CARS1	OMIM:618891
HP:0030236	Abnormality of muscle size	57104	PNPLA2	ORPHA:98908
HP:0030236	Abnormality of muscle size	9997	SCO2	ORPHA:521411
HP:0030236	Abnormality of muscle size	9420	CYP7B1	OMIM:270800
HP:0030236	Abnormality of muscle size	9420	CYP7B1	ORPHA:100986
HP:0030236	Abnormality of muscle size	3798	KIF5A	ORPHA:100991
HP:0030236	Abnormality of muscle size	7994	KAT6A	OMIM:616268
HP:0030236	Abnormality of muscle size	3315	HSPB1	OMIM:606595
HP:0030236	Abnormality of muscle size	3315	HSPB1	ORPHA:99940
HP:0030236	Abnormality of muscle size	4141	MARS1	OMIM:616280
HP:0030236	Abnormality of muscle size	284058	KANSL1	ORPHA:363965
HP:0030236	Abnormality of muscle size	284058	KANSL1	ORPHA:363958
HP:0030236	Abnormality of muscle size	59341	TRPV4	OMIM:606071
HP:0030236	Abnormality of muscle size	80199	FUZ	ORPHA:1136
HP:0030236	Abnormality of muscle size	89874	SLC25A21	OMIM:618811
HP:0030236	Abnormality of muscle size	2395	FXN	ORPHA:95
HP:0030236	Abnormality of muscle size	6910	TBX5	OMIM:142900
HP:0030236	Abnormality of muscle size	6926	TBX3	ORPHA:3138
HP:0030236	Abnormality of muscle size	4010	LMX1B	OMIM:161200
HP:0030236	Abnormality of muscle size	7555	CNBP	OMIM:602668
HP:0030236	Abnormality of muscle size	6261	RYR1	ORPHA:98905
HP:0030236	Abnormality of muscle size	4556	MT-TE	ORPHA:2596
HP:0030236	Abnormality of muscle size	25792	CIZ1	ORPHA:420492
HP:0030236	Abnormality of muscle size	2892	GRIA3	ORPHA:364028
HP:0030235	Extremely elevated creatine kinase	4747	NEFL	ORPHA:99939
HP:0030235	Extremely elevated creatine kinase	10367	MICU1	OMIM:615673
HP:0030234	Highly elevated creatine kinase	64208	POPDC3	OMIM:618848
HP:0030234	Highly elevated creatine kinase	112812	FDX2	OMIM:251900
HP:0030234	Highly elevated creatine kinase	54344	DPM3	OMIM:618992
HP:0030234	Highly elevated creatine kinase	23175	LPIN1	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	4512	MT-CO1	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	4514	MT-CO3	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	729920	CRPPA	ORPHA:352479
HP:0030234	Highly elevated creatine kinase	5837	PYGM	ORPHA:368
HP:0030234	Highly elevated creatine kinase	3908	LAMA2	ORPHA:258
HP:0030234	Highly elevated creatine kinase	203859	ANO5	ORPHA:399096
HP:0030232	Increased sarcoplasmic glycogen	5256	PHKA2	ORPHA:264580
HP:0030232	Increased sarcoplasmic glycogen	5261	PHKG2	ORPHA:264580
HP:0030231	Glycogen accumulation in muscle fiber lysosomes	5837	PYGM	ORPHA:368
HP:0030231	Glycogen accumulation in muscle fiber lysosomes	5255	PHKA1	OMIM:300559
HP:0004390	Hamartomatous polyposis	10483	SEC23B	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN	OMIM:158350
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:79076
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:109
HP:0004390	Hamartomatous polyposis	6390	SDHB	ORPHA:201
HP:0004390	Hamartomatous polyposis	6392	SDHD	ORPHA:201
HP:0004390	Hamartomatous polyposis	6391	SDHC	ORPHA:201
HP:0004390	Hamartomatous polyposis	207	AKT1	ORPHA:201
HP:0004390	Hamartomatous polyposis	207	AKT1	OMIM:615109
HP:0004390	Hamartomatous polyposis	205717	USF3	ORPHA:201
HP:0004390	Hamartomatous polyposis	5290	PIK3CA	ORPHA:201
HP:0004390	Hamartomatous polyposis	5290	PIK3CA	OMIM:615108
HP:0004390	Hamartomatous polyposis	100144748	KLLN	ORPHA:201
HP:0004390	Hamartomatous polyposis	6794	STK11	OMIM:175200
HP:0004390	Hamartomatous polyposis	4437	MSH3	ORPHA:480536
HP:0004390	Hamartomatous polyposis	4089	SMAD4	OMIM:175050
HP:0004390	Hamartomatous polyposis	5727	PTCH1	OMIM:109400
HP:0004390	Hamartomatous polyposis	657	BMPR1A	OMIM:610069
HP:0004390	Hamartomatous polyposis	657	BMPR1A	ORPHA:157794
HP:0004390	Hamartomatous polyposis	26585	GREM1	ORPHA:157794
HP:0004392	Prune belly	9780	PIEZO1	OMIM:616843
HP:0004392	Prune belly	91801	ALKBH8	OMIM:618504
HP:0004392	Prune belly	4629	MYH11	OMIM:619351
HP:0004392	Prune belly	1131	CHRM3	OMIM:100100
HP:0004394	Multiple gastric polyps	657	BMPR1A	ORPHA:329971
HP:0004394	Multiple gastric polyps	657	BMPR1A	OMIM:174900
HP:0004394	Multiple gastric polyps	4089	SMAD4	ORPHA:329971
HP:0004394	Multiple gastric polyps	4089	SMAD4	OMIM:174900
HP:0004394	Multiple gastric polyps	2022	ENG	ORPHA:329971
HP:0004394	Multiple gastric polyps	6794	STK11	OMIM:175200
HP:0004394	Multiple gastric polyps	324	APC	OMIM:175100
HP:0004394	Multiple gastric polyps	324	APC	ORPHA:247806
HP:0004394	Multiple gastric polyps	324	APC	ORPHA:79665
HP:0004394	Multiple gastric polyps	11277	TREX1	OMIM:225750
HP:0004394	Multiple gastric polyps	4437	MSH3	ORPHA:480536
HP:0004395	Malnutrition	51128	SAR1B	OMIM:246700
HP:0004395	Malnutrition	3988	LIPA	ORPHA:75233
HP:0004395	Malnutrition	535	ATP6V0A1	OMIM:619971
HP:0004395	Malnutrition	72	ACTG2	OMIM:155310
HP:0004395	Malnutrition	11330	CTRC	ORPHA:103918
HP:0004395	Malnutrition	6690	SPINK1	ORPHA:103918
HP:0004395	Malnutrition	229	ALDOB	OMIM:229600
HP:0004395	Malnutrition	54914	FOCAD	OMIM:619991
HP:0004395	Malnutrition	1890	TYMP	OMIM:603041
HP:0004395	Malnutrition	5428	POLG	OMIM:603041
HP:0004395	Malnutrition	5428	POLG	OMIM:613662
HP:0004395	Malnutrition	51608	GET4	OMIM:620200
HP:0004395	Malnutrition	9056	SLC7A7	OMIM:222700
HP:0004395	Malnutrition	3909	LAMA3	ORPHA:79404
HP:0004395	Malnutrition	3918	LAMC2	ORPHA:79404
HP:0004395	Malnutrition	3914	LAMB3	ORPHA:79404
HP:0004395	Malnutrition	4312	MMP1	ORPHA:79408
HP:0004395	Malnutrition	4312	MMP1	OMIM:226600
HP:0004395	Malnutrition	1294	COL7A1	ORPHA:79408
HP:0004395	Malnutrition	1294	COL7A1	OMIM:226600
HP:0004395	Malnutrition	1294	COL7A1	ORPHA:89842
HP:0004395	Malnutrition	4487	MSX1	ORPHA:199306
HP:0004395	Malnutrition	5818	NECTIN1	ORPHA:199306
HP:0004395	Malnutrition	1739	DLG1	ORPHA:199306
HP:0004395	Malnutrition	652	BMP4	ORPHA:199306
HP:0004395	Malnutrition	8626	TP63	ORPHA:199306
HP:0004395	Malnutrition	999	CDH1	ORPHA:199306
HP:0004395	Malnutrition	5156	PDGFRA	ORPHA:199306
HP:0004395	Malnutrition	3664	IRF6	ORPHA:199306
HP:0004395	Malnutrition	9411	ARHGAP29	ORPHA:199306
HP:0004395	Malnutrition	1748	DLX4	ORPHA:199306
HP:0004395	Malnutrition	6288	SAA1	ORPHA:85445
HP:0004395	Malnutrition	6523	SLC5A1	ORPHA:35710
HP:0004395	Malnutrition	4645	MYO5B	OMIM:251850
HP:0004395	Malnutrition	84701	COX4I2	OMIM:612714
HP:0004395	Malnutrition	4001	LMNB1	ORPHA:99027
HP:0004395	Malnutrition	3119	HLA-DQB1	ORPHA:930
HP:0004395	Malnutrition	9244	CRLF1	ORPHA:930
HP:0004395	Malnutrition	3117	HLA-DQA1	ORPHA:930
HP:0004395	Malnutrition	4842	NOS1	ORPHA:930
HP:0004395	Malnutrition	134218	DNAJC21	ORPHA:811
HP:0004395	Malnutrition	79631	EFL1	ORPHA:811
HP:0004395	Malnutrition	51119	SBDS	ORPHA:811
HP:0004395	Malnutrition	6729	SRP54	ORPHA:811
HP:0004396	Poor appetite	5428	POLG	ORPHA:298
HP:0004396	Poor appetite	1890	TYMP	ORPHA:298
HP:0004396	Poor appetite	3980	LIG3	ORPHA:298
HP:0004396	Poor appetite	50484	RRM2B	ORPHA:298
HP:0004396	Poor appetite	3858	KRT10	ORPHA:312
HP:0004396	Poor appetite	3848	KRT1	ORPHA:312
HP:0004396	Poor appetite	8029	CUBN	ORPHA:35858
HP:0004396	Poor appetite	81693	AMN	ORPHA:35858
HP:0004396	Poor appetite	5295	PIK3R1	ORPHA:3163
HP:0004396	Poor appetite	7040	TGFB1	OMIM:131300
HP:0004396	Poor appetite	10068	IL18BP	OMIM:618549
HP:0004396	Poor appetite	816	CAMK2B	OMIM:617799
HP:0004396	Poor appetite	162417	NAGS	ORPHA:927
HP:0004396	Poor appetite	79651	RHBDF2	ORPHA:2198
HP:0004396	Poor appetite	92667	MGME1	ORPHA:352447
HP:0004396	Poor appetite	5095	PCCA	OMIM:606054
HP:0004396	Poor appetite	5096	PCCB	OMIM:606054
HP:0004396	Poor appetite	641	BLM	ORPHA:125
HP:0004396	Poor appetite	613	BCR	ORPHA:521
HP:0004396	Poor appetite	25	ABL1	ORPHA:521
HP:0004396	Poor appetite	861	RUNX1	ORPHA:521
HP:0004396	Poor appetite	2887	GRB10	ORPHA:96182
HP:0004396	Poor appetite	55630	SLC39A4	ORPHA:37
HP:0004396	Poor appetite	55630	SLC39A4	OMIM:201100
HP:0004396	Poor appetite	1616	DAXX	ORPHA:100075
HP:0004396	Poor appetite	546	ATRX	ORPHA:100075
HP:0004396	Poor appetite	57190	SELENON	ORPHA:2020
HP:0004396	Poor appetite	58	ACTA1	ORPHA:2020
HP:0004396	Poor appetite	4633	MYL2	ORPHA:2020
HP:0004396	Poor appetite	3679	ITGA7	ORPHA:2020
HP:0004396	Poor appetite	7169	TPM2	ORPHA:2020
HP:0004396	Poor appetite	9200	HACD1	ORPHA:2020
HP:0004396	Poor appetite	7170	TPM3	ORPHA:2020
HP:0004396	Poor appetite	51776	MAP3K20	ORPHA:2020
HP:0004396	Poor appetite	221496	LEMD2	OMIM:619322
HP:0004396	Poor appetite	6514	SLC2A2	OMIM:227810
HP:0004396	Poor appetite	115286	SLC25A26	OMIM:616794
HP:0004396	Poor appetite	672	BRCA1	ORPHA:1333
HP:0004396	Poor appetite	285282	RABL3	ORPHA:1333
HP:0004396	Poor appetite	7157	TP53	ORPHA:1333
HP:0004396	Poor appetite	675	BRCA2	ORPHA:1333
HP:0004396	Poor appetite	3845	KRAS	ORPHA:1333
HP:0004396	Poor appetite	1029	CDKN2A	ORPHA:1333
HP:0004396	Poor appetite	79728	PALB2	ORPHA:1333
HP:0004396	Poor appetite	4089	SMAD4	ORPHA:1333
HP:0004396	Poor appetite	23022	PALLD	ORPHA:1333
HP:0004396	Poor appetite	10165	SLC25A13	ORPHA:247598
HP:0004396	Poor appetite	1497	CTNS	ORPHA:411634
HP:0004396	Poor appetite	79971	WLS	OMIM:619648
HP:0004397	Ectopic anus	64840	PORCN	OMIM:305600
HP:0004397	Ectopic anus	10128	LRPPRC	OMIM:220111
HP:0004397	Ectopic anus	9791	PTDSS1	OMIM:151050
HP:0004397	Ectopic anus	2072	ERCC4	OMIM:615272
HP:0004397	Ectopic anus	5447	POR	OMIM:201750
HP:0004397	Ectopic anus	5447	POR	ORPHA:95699
HP:0004397	Ectopic anus	6628	SNRPB	OMIM:117650
HP:0004397	Ectopic anus	23512	SUZ12	OMIM:618786
HP:0004397	Ectopic anus	1349	COX7B	OMIM:309801
HP:0004397	Ectopic anus	3052	HCCS	OMIM:309801
HP:0004397	Ectopic anus	54539	NDUFB11	OMIM:309801
HP:0004397	Ectopic anus	145173	B3GLCT	OMIM:261540
HP:0004397	Ectopic anus	222546	RFX6	OMIM:615710
HP:0004397	Ectopic anus	1024	CDK8	OMIM:618748
HP:0004397	Ectopic anus	29957	SLC25A24	OMIM:612289
HP:0004397	Ectopic anus	22800	RRAS2	OMIM:618624
HP:0004397	Ectopic anus	158326	FREM1	ORPHA:217266
HP:0004397	Ectopic anus	158326	FREM1	OMIM:248450
HP:0004397	Ectopic anus	158326	FREM1	ORPHA:2717
HP:0004397	Ectopic anus	158326	FREM1	OMIM:608980
HP:0004397	Ectopic anus	8626	TP63	OMIM:604292
HP:0004397	Ectopic anus	9401	RECQL4	OMIM:268400
HP:0004397	Ectopic anus	9401	RECQL4	ORPHA:1225
HP:0004397	Ectopic anus	9401	RECQL4	OMIM:218600
HP:0004397	Ectopic anus	197131	UBR1	OMIM:243800
HP:0004397	Ectopic anus	197131	UBR1	ORPHA:2315
HP:0004397	Ectopic anus	117581	TWIST2	OMIM:200110
HP:0004397	Ectopic anus	8318	CDC45	OMIM:617063
HP:0004397	Ectopic anus	1857	DVL3	OMIM:616894
HP:0004397	Ectopic anus	8942	KYNU	OMIM:617661
HP:0004397	Ectopic anus	28514	DLL1	ORPHA:280195
HP:0004397	Ectopic anus	2253	FGF8	ORPHA:280195
HP:0004397	Ectopic anus	6496	SIX3	ORPHA:280195
HP:0004397	Ectopic anus	7050	TGIF1	ORPHA:280195
HP:0004397	Ectopic anus	4838	NODAL	ORPHA:280195
HP:0004397	Ectopic anus	6469	SHH	ORPHA:280195
HP:0004397	Ectopic anus	7546	ZIC2	ORPHA:280195
HP:0004397	Ectopic anus	6491	STIL	ORPHA:280195
HP:0004397	Ectopic anus	2619	GAS1	ORPHA:280195
HP:0004397	Ectopic anus	84976	DISP1	ORPHA:280195
HP:0004397	Ectopic anus	2736	GLI2	ORPHA:280195
HP:0004397	Ectopic anus	8928	FOXH1	ORPHA:280195
HP:0004397	Ectopic anus	5727	PTCH1	ORPHA:280195
HP:0004397	Ectopic anus	50937	CDON	ORPHA:280195
HP:0004397	Ectopic anus	79633	FAT4	ORPHA:314679
HP:0004397	Ectopic anus	79633	FAT4	OMIM:615546
HP:0004397	Ectopic anus	8642	DCHS1	ORPHA:314679
HP:0004397	Ectopic anus	8642	DCHS1	OMIM:601390
HP:0004397	Ectopic anus	6299	SALL1	ORPHA:857
HP:0004397	Ectopic anus	51339	DACT1	ORPHA:857
HP:0004397	Ectopic anus	9968	MED12	OMIM:305450
HP:0004397	Ectopic anus	55650	PIGV	OMIM:239300
HP:0004397	Ectopic anus	55650	PIGV	ORPHA:247262
HP:0004397	Ectopic anus	4784	NFIX	OMIM:602535
HP:0004397	Ectopic anus	84992	PIGY	ORPHA:247262
HP:0004397	Ectopic anus	84720	PIGO	ORPHA:247262
HP:0004397	Ectopic anus	93210	PGAP3	ORPHA:247262
HP:0004397	Ectopic anus	284098	PIGW	ORPHA:247262
HP:0004397	Ectopic anus	27315	PGAP2	ORPHA:247262
HP:0004397	Ectopic anus	9487	PIGL	ORPHA:247262
HP:0004397	Ectopic anus	23522	KAT6B	OMIM:606170
HP:0004397	Ectopic anus	1108	CHD4	OMIM:617159
HP:0004397	Ectopic anus	157570	ESCO2	ORPHA:2319
HP:0004397	Ectopic anus	157570	ESCO2	OMIM:216100
HP:0004397	Ectopic anus	1009	CDH11	OMIM:211380
HP:0004397	Ectopic anus	1009	CDH11	ORPHA:1299
HP:0004397	Ectopic anus	37	ACADVL	ORPHA:26793
HP:0004397	Ectopic anus	1656	DDX6	OMIM:618653
HP:0004397	Ectopic anus	1822	ATN1	OMIM:618494
HP:0004397	Ectopic anus	1642	DDB1	OMIM:619426
HP:0004397	Ectopic anus	26005	C2CD3	OMIM:615948
HP:0004397	Ectopic anus	26040	SETBP1	ORPHA:798
HP:0004397	Ectopic anus	2737	GLI3	OMIM:146510
HP:0004397	Ectopic anus	2263	FGFR2	ORPHA:87
HP:0004397	Ectopic anus	2263	FGFR2	OMIM:101200
HP:0004397	Ectopic anus	341640	FREM2	ORPHA:2052
HP:0004397	Ectopic anus	80144	FRAS1	ORPHA:2052
HP:0004397	Ectopic anus	23426	GRIP1	ORPHA:2052
HP:0004397	Ectopic anus	23556	PIGN	ORPHA:2059
HP:0004397	Ectopic anus	8195	MKKS	ORPHA:2473
HP:0004397	Ectopic anus	64359	NXN	ORPHA:1507
HP:0004397	Ectopic anus	4920	ROR2	ORPHA:1507
HP:0004397	Ectopic anus	9897	WASHC5	ORPHA:7
HP:0004397	Ectopic anus	28952	CCDC22	ORPHA:7
HP:0004397	Ectopic anus	55112	DYNC2I1	ORPHA:93271
HP:0004397	Ectopic anus	57560	IFT80	ORPHA:93271
HP:0004397	Ectopic anus	57539	WDR35	ORPHA:93271
HP:0004397	Ectopic anus	79659	DYNC2H1	ORPHA:93271
HP:0004397	Ectopic anus	89891	DYNC2I2	ORPHA:93271
HP:0004397	Ectopic anus	4281	MID1	ORPHA:2745
HP:0004397	Ectopic anus	84667	HES7	OMIM:613686
HP:0004397	Ectopic anus	9573	GDF3	ORPHA:2345
HP:0004397	Ectopic anus	392255	GDF6	ORPHA:2345
HP:0004397	Ectopic anus	4222	MEOX1	ORPHA:2345
HP:0004397	Ectopic anus	2313	FLI1	ORPHA:2308
HP:0004397	Ectopic anus	6926	TBX3	ORPHA:3138
HP:0004397	Ectopic anus	7547	ZIC3	OMIM:306955
HP:0004398	Peptic ulcer	493856	CISD2	OMIM:604928
HP:0004398	Peptic ulcer	493856	CISD2	ORPHA:3463
HP:0004398	Peptic ulcer	7466	WFS1	ORPHA:3463
HP:0004398	Peptic ulcer	57492	ARID1B	OMIM:135900
HP:0004398	Peptic ulcer	2629	GBA1	ORPHA:2072
HP:0004398	Peptic ulcer	5321	PLA2G4A	OMIM:618372
HP:0004398	Peptic ulcer	4221	MEN1	ORPHA:652
HP:0004398	Peptic ulcer	4221	MEN1	OMIM:131100
HP:0004398	Peptic ulcer	1027	CDKN1B	ORPHA:652
HP:0004398	Peptic ulcer	1027	CDKN1B	ORPHA:276152
HP:0004398	Peptic ulcer	1026	CDKN1A	ORPHA:652
HP:0004398	Peptic ulcer	1030	CDKN2B	ORPHA:652
HP:0004398	Peptic ulcer	1031	CDKN2C	ORPHA:652
HP:0004398	Peptic ulcer	79577	CDC73	ORPHA:143
HP:0004398	Peptic ulcer	79577	CDC73	ORPHA:99880
HP:0004398	Peptic ulcer	1175	AP2S1	OMIM:600740
HP:0004398	Peptic ulcer	2767	GNA11	OMIM:145981
HP:0004398	Peptic ulcer	171023	ASXL1	ORPHA:98849
HP:0004398	Peptic ulcer	54790	TET2	ORPHA:98849
HP:0004398	Peptic ulcer	3815	KIT	ORPHA:98849
HP:0004398	Peptic ulcer	6427	SRSF2	ORPHA:98849
HP:0004398	Peptic ulcer	6804	STX1A	ORPHA:904
HP:0004398	Peptic ulcer	7461	CLIP2	ORPHA:904
HP:0004398	Peptic ulcer	84277	DNAJC30	ORPHA:904
HP:0004398	Peptic ulcer	8468	FKBP6	ORPHA:904
HP:0004398	Peptic ulcer	5982	RFC2	ORPHA:904
HP:0004398	Peptic ulcer	2969	GTF2I	ORPHA:904
HP:0004398	Peptic ulcer	3984	LIMK1	ORPHA:904
HP:0004398	Peptic ulcer	9569	GTF2IRD1	ORPHA:904
HP:0004398	Peptic ulcer	155382	VPS37D	ORPHA:904
HP:0004398	Peptic ulcer	155368	METTL27	ORPHA:904
HP:0004398	Peptic ulcer	114049	BUD23	ORPHA:904
HP:0004398	Peptic ulcer	7458	EIF4H	ORPHA:904
HP:0004398	Peptic ulcer	84163	GTF2IRD2	ORPHA:904
HP:0004398	Peptic ulcer	9275	BCL7B	ORPHA:904
HP:0004398	Peptic ulcer	26608	TBL2	ORPHA:904
HP:0004398	Peptic ulcer	653361	NCF1	ORPHA:904
HP:0004398	Peptic ulcer	135886	TMEM270	ORPHA:904
HP:0004398	Peptic ulcer	51085	MLXIPL	ORPHA:904
HP:0004398	Peptic ulcer	9031	BAZ1B	ORPHA:904
HP:0004398	Peptic ulcer	2006	ELN	ORPHA:904
HP:0004398	Peptic ulcer	3248	HPGD	ORPHA:2796
HP:0004398	Peptic ulcer	6578	SLCO2A1	ORPHA:2796
HP:0004399	Congenital pyloric atresia	3655	ITGA6	ORPHA:79403
HP:0004399	Congenital pyloric atresia	3655	ITGA6	OMIM:619817
HP:0004399	Congenital pyloric atresia	3691	ITGB4	ORPHA:79403
HP:0004399	Congenital pyloric atresia	3691	ITGB4	OMIM:226730
HP:0004399	Congenital pyloric atresia	3691	ITGB4	ORPHA:158684
HP:0004399	Congenital pyloric atresia	5339	PLEC	OMIM:612138
HP:0004399	Congenital pyloric atresia	5339	PLEC	OMIM:226730
HP:0004399	Congenital pyloric atresia	5339	PLEC	ORPHA:158684
HP:0030248	Mesenteric venous thrombosis	2034	EPAS1	OMIM:611783
HP:0030248	Mesenteric venous thrombosis	462	SERPINC1	ORPHA:82
HP:0030248	Mesenteric venous thrombosis	5277	PIGA	ORPHA:447
HP:0030247	Splanchnic vein thrombosis	4851	NOTCH1	OMIM:616028
HP:0030247	Splanchnic vein thrombosis	4352	MPL	ORPHA:729
HP:0030247	Splanchnic vein thrombosis	3717	JAK2	ORPHA:729
HP:0030247	Splanchnic vein thrombosis	54790	TET2	ORPHA:729
HP:0030247	Splanchnic vein thrombosis	4233	MET	ORPHA:33402
HP:0030247	Splanchnic vein thrombosis	1499	CTNNB1	ORPHA:33402
HP:0030247	Splanchnic vein thrombosis	6521	SLC4A1	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	9780	PIEZO1	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	3783	KCNN4	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	1604	CD55	OMIM:226300
HP:0030247	Splanchnic vein thrombosis	93183	PIGM	OMIM:610293
HP:0030247	Splanchnic vein thrombosis	11330	CTRC	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	5644	PRSS1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	5645	PRSS2	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	6690	SPINK1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	846	CASR	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	1080	CFTR	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	1357	CPA1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	2034	EPAS1	OMIM:611783
HP:0030247	Splanchnic vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030247	Splanchnic vein thrombosis	5277	PIGA	ORPHA:447
HP:0030244	Maternal fever in pregnancy	4524	MTHFR	ORPHA:563612
HP:0030244	Maternal fever in pregnancy	4524	MTHFR	ORPHA:563609
HP:0030244	Maternal fever in pregnancy	57216	VANGL2	ORPHA:563612
HP:0030244	Maternal fever in pregnancy	57216	VANGL2	ORPHA:563609
HP:0030243	Hepatic vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030243	Hepatic vein thrombosis	1604	CD55	OMIM:226300
HP:0030243	Hepatic vein thrombosis	93183	PIGM	OMIM:610293
HP:0030242	Portal vein thrombosis	4851	NOTCH1	OMIM:616028
HP:0030242	Portal vein thrombosis	4352	MPL	ORPHA:729
HP:0030242	Portal vein thrombosis	3717	JAK2	ORPHA:729
HP:0030242	Portal vein thrombosis	54790	TET2	ORPHA:729
HP:0030242	Portal vein thrombosis	4233	MET	ORPHA:33402
HP:0030242	Portal vein thrombosis	1499	CTNNB1	ORPHA:33402
HP:0030242	Portal vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030242	Portal vein thrombosis	6521	SLC4A1	ORPHA:3202
HP:0030242	Portal vein thrombosis	9780	PIEZO1	ORPHA:3202
HP:0030242	Portal vein thrombosis	3783	KCNN4	ORPHA:3202
HP:0030242	Portal vein thrombosis	93183	PIGM	OMIM:610293
HP:0020035	Lower limb dysmetria	4763	NF1	ORPHA:363700
HP:0020036	Upper limb dysmetria	57704	GBA2	OMIM:614409
HP:0020037	Astasia	55768	NGLY1	ORPHA:404454
HP:0020038	Vertebrobasilar dolichoectasia	92949	ADAMTSL1	ORPHA:521445
HP:0030252	Absent circulating B cells	96459	FNIP1	OMIM:619705
HP:0030252	Absent circulating B cells	6688	SPI1	OMIM:619707
HP:0030252	Absent circulating B cells	973	CD79A	OMIM:613501
HP:0030252	Absent circulating B cells	3543	IGLL1	OMIM:613500
HP:0030252	Absent circulating B cells	695	BTK	OMIM:307200
HP:0030252	Absent circulating B cells	7922	SLC39A7	OMIM:619693
HP:0030253	Defective T cell proliferation	57591	MRTFA	OMIM:618847
HP:0030253	Defective T cell proliferation	1503	CTPS1	OMIM:615897
HP:0030253	Defective T cell proliferation	10125	RASGRP1	OMIM:618534
HP:0030253	Defective T cell proliferation	916	CD3E	OMIM:615615
HP:0030253	Defective T cell proliferation	3978	LIG1	OMIM:619774
HP:0030253	Defective T cell proliferation	7040	TGFB1	OMIM:618213
HP:0030253	Defective T cell proliferation	7456	WIPF1	OMIM:614493
HP:0030254	Nail bed hemorrhage	284	ANGPT1	OMIM:619361
HP:0030254	Nail bed hemorrhage	26509	MYOF	OMIM:619366
HP:0030255	Large intestinal polyposis	8313	AXIN2	ORPHA:401911
HP:0030255	Large intestinal polyposis	8313	AXIN2	OMIM:608615
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:261584
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:99818
HP:0030255	Large intestinal polyposis	324	APC	OMIM:175100
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:247806
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:79665
HP:0030255	Large intestinal polyposis	54894	RNF43	ORPHA:157798
HP:0030255	Large intestinal polyposis	26585	GREM1	ORPHA:157794
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:157794
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:329971
HP:0030255	Large intestinal polyposis	657	BMPR1A	OMIM:610069
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:79076
HP:0030255	Large intestinal polyposis	4913	NTHL1	ORPHA:454840
HP:0030255	Large intestinal polyposis	4913	NTHL1	OMIM:616415
HP:0030255	Large intestinal polyposis	4089	SMAD4	ORPHA:329971
HP:0030255	Large intestinal polyposis	2022	ENG	ORPHA:329971
HP:0030255	Large intestinal polyposis	8930	MBD4	OMIM:619975
HP:0030255	Large intestinal polyposis	4595	MUTYH	OMIM:608456
HP:0030255	Large intestinal polyposis	4595	MUTYH	ORPHA:247798
HP:0030255	Large intestinal polyposis	5426	POLE	ORPHA:447877
HP:0030255	Large intestinal polyposis	5424	POLD1	ORPHA:447877
HP:0030255	Large intestinal polyposis	4292	MLH1	OMIM:276300
HP:0030255	Large intestinal polyposis	5395	PMS2	OMIM:619101
HP:0030255	Large intestinal polyposis	4437	MSH3	OMIM:617100
HP:0030255	Large intestinal polyposis	4437	MSH3	ORPHA:480536
HP:0030255	Large intestinal polyposis	4072	EPCAM	OMIM:613244
HP:0030255	Large intestinal polyposis	5728	PTEN	ORPHA:79076
HP:0030255	Large intestinal polyposis	201163	FLCN	OMIM:135150
HP:0030255	Large intestinal polyposis	10483	SEC23B	ORPHA:201
HP:0030255	Large intestinal polyposis	6390	SDHB	ORPHA:201
HP:0030255	Large intestinal polyposis	6392	SDHD	ORPHA:201
HP:0030255	Large intestinal polyposis	6391	SDHC	ORPHA:201
HP:0030255	Large intestinal polyposis	207	AKT1	ORPHA:201
HP:0030255	Large intestinal polyposis	205717	USF3	ORPHA:201
HP:0030255	Large intestinal polyposis	5290	PIK3CA	ORPHA:201
HP:0030255	Large intestinal polyposis	100144748	KLLN	ORPHA:201
HP:0030255	Large intestinal polyposis	9817	KEAP1	ORPHA:276399
HP:0030255	Large intestinal polyposis	23405	DICER1	ORPHA:276399
HP:0030255	Large intestinal polyposis	7157	TP53	ORPHA:524
HP:0030255	Large intestinal polyposis	1029	CDKN2A	ORPHA:524
HP:0030255	Large intestinal polyposis	4193	MDM2	ORPHA:524
HP:0030255	Large intestinal polyposis	11200	CHEK2	ORPHA:524
HP:0030256	Small intestinal polyposis	324	APC	OMIM:175100
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:247806
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:261584
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:79665
HP:0030256	Small intestinal polyposis	4437	MSH3	OMIM:617100
HP:0030256	Small intestinal polyposis	657	BMPR1A	ORPHA:329971
HP:0030256	Small intestinal polyposis	4089	SMAD4	ORPHA:329971
HP:0030256	Small intestinal polyposis	2022	ENG	ORPHA:329971
HP:0030257	Freckled genitalia	5728	PTEN	ORPHA:79076
HP:0030257	Freckled genitalia	657	BMPR1A	ORPHA:79076
HP:0020045	Esodeviation	8322	FZD4	OMIM:133780
HP:0020045	Esodeviation	4041	LRP5	OMIM:133780
HP:0020045	Esodeviation	9949	AMMECR1	OMIM:300990
HP:0020045	Esodeviation	6095	RORA	OMIM:618060
HP:0020045	Esodeviation	50964	SOST	OMIM:269500
HP:0020045	Esodeviation	22827	PUF60	ORPHA:508498
HP:0020045	Esodeviation	340533	NEXMIF	OMIM:300912
HP:0020045	Esodeviation	340533	NEXMIF	ORPHA:85277
HP:0020045	Esodeviation	6477	SIAH1	OMIM:619314
HP:0020045	Esodeviation	5393	EXOSC9	OMIM:618065
HP:0020045	Esodeviation	5393	EXOSC9	ORPHA:2254
HP:0020045	Esodeviation	1859	DYRK1A	ORPHA:268261
HP:0020045	Esodeviation	23135	KDM6B	OMIM:618505
HP:0020045	Esodeviation	2895	GRID2	OMIM:616204
HP:0020045	Esodeviation	23418	CRB1	OMIM:172870
HP:0020045	Esodeviation	50484	RRM2B	ORPHA:329336
HP:0020045	Esodeviation	246243	RNASEH1	ORPHA:329336
HP:0020045	Esodeviation	22800	RRAS2	OMIM:618624
HP:0020045	Esodeviation	51259	TMEM216	OMIM:608091
HP:0020045	Esodeviation	51259	TMEM216	ORPHA:2754
HP:0020045	Esodeviation	5428	POLG	OMIM:258450
HP:0020045	Esodeviation	79796	ALG9	OMIM:608776
HP:0020045	Esodeviation	79796	ALG9	ORPHA:79328
HP:0020045	Esodeviation	9839	ZEB2	OMIM:235730
HP:0020045	Esodeviation	7681	MKRN3	OMIM:176270
HP:0020045	Esodeviation	3653	IPW	OMIM:176270
HP:0020045	Esodeviation	54551	MAGEL2	OMIM:176270
HP:0020045	Esodeviation	54551	MAGEL2	ORPHA:398069
HP:0020045	Esodeviation	54551	MAGEL2	OMIM:615547
HP:0020045	Esodeviation	791114	PWRN1	OMIM:176270
HP:0020045	Esodeviation	100033413	SNORD116-1	OMIM:176270
HP:0020045	Esodeviation	8924	HERC2	OMIM:176270
HP:0020045	Esodeviation	145624	PWAR1	OMIM:176270
HP:0020045	Esodeviation	23742	NPAP1	OMIM:176270
HP:0020045	Esodeviation	338433	SNORD115-1	OMIM:176270
HP:0020045	Esodeviation	1303	COL12A1	ORPHA:75840
HP:0020045	Esodeviation	1291	COL6A1	ORPHA:75840
HP:0020045	Esodeviation	1292	COL6A2	ORPHA:75840
HP:0020045	Esodeviation	1293	COL6A3	ORPHA:75840
HP:0020045	Esodeviation	6720	SREBF1	OMIM:158310
HP:0020045	Esodeviation	5575	PRKAR1B	OMIM:619680
HP:0020045	Esodeviation	2581	GALC	ORPHA:206443
HP:0020045	Esodeviation	388015	RTL1	ORPHA:254528
HP:0020045	Esodeviation	8788	DLK1	ORPHA:254528
HP:0020045	Esodeviation	55384	MEG3	ORPHA:254528
HP:0020045	Esodeviation	51506	UFC1	OMIM:618076
HP:0020045	Esodeviation	5830	PEX5	OMIM:202370
HP:0020045	Esodeviation	27245	AHDC1	ORPHA:412069
HP:0020045	Esodeviation	27245	AHDC1	OMIM:615829
HP:0020045	Esodeviation	2782	GNB1	OMIM:616973
HP:0020045	Esodeviation	3149	HMGB3	OMIM:300915
HP:0020045	Esodeviation	2911	GRM1	OMIM:614831
HP:0020045	Esodeviation	2911	GRM1	ORPHA:324262
HP:0020045	Esodeviation	10978	CLP1	OMIM:615803
HP:0020045	Esodeviation	64221	ROBO3	OMIM:607313
HP:0020045	Esodeviation	3778	KCNMA1	ORPHA:79137
HP:0020045	Esodeviation	473	RERE	ORPHA:494344
HP:0020045	Esodeviation	220202	ATOH7	OMIM:221900
HP:0020045	Esodeviation	55777	MBD5	OMIM:156200
HP:0020045	Esodeviation	1301	COL11A1	OMIM:154780
HP:0020045	Esodeviation	9289	ADGRG1	OMIM:606854
HP:0020045	Esodeviation	9289	ADGRG1	ORPHA:101070
HP:0020045	Esodeviation	84992	PIGY	ORPHA:247262
HP:0020045	Esodeviation	84720	PIGO	ORPHA:247262
HP:0020045	Esodeviation	93210	PGAP3	ORPHA:247262
HP:0020045	Esodeviation	284098	PIGW	ORPHA:247262
HP:0020045	Esodeviation	27315	PGAP2	ORPHA:247262
HP:0020045	Esodeviation	55650	PIGV	ORPHA:247262
HP:0020045	Esodeviation	9487	PIGL	ORPHA:247262
HP:0020045	Esodeviation	9630	GNA14	ORPHA:1063
HP:0020045	Esodeviation	56915	EXOSC5	OMIM:619576
HP:0020045	Esodeviation	64324	NSD1	OMIM:117550
HP:0020045	Esodeviation	2200	FBN1	OMIM:154700
HP:0020045	Esodeviation	64207	IRF2BPL	OMIM:618088
HP:0020045	Esodeviation	816	CAMK2B	OMIM:617799
HP:0020045	Esodeviation	10381	TUBB3	ORPHA:300570
HP:0020045	Esodeviation	29920	PYCR2	ORPHA:481152
HP:0020045	Esodeviation	5422	POLA1	OMIM:301030
HP:0020045	Esodeviation	10484	SEC23A	OMIM:607812
HP:0020045	Esodeviation	164	AP1G1	OMIM:619467
HP:0020045	Esodeviation	84342	COG8	OMIM:611182
HP:0020045	Esodeviation	55714	TENM3	OMIM:615145
HP:0020045	Esodeviation	4761	NEUROD2	OMIM:618374
HP:0020045	Esodeviation	5144	PDE4D	ORPHA:439822
HP:0020045	Esodeviation	23065	EMC1	OMIM:616875
HP:0020045	Esodeviation	23065	EMC1	ORPHA:480898
HP:0020045	Esodeviation	26227	PHGDH	ORPHA:79351
HP:0020045	Esodeviation	6297	SALL2	OMIM:216820
HP:0020045	Esodeviation	2743	GLRB	OMIM:614619
HP:0020045	Esodeviation	7025	NR2F1	ORPHA:401777
HP:0020045	Esodeviation	9851	KIAA0753	OMIM:619476
HP:0020045	Esodeviation	9851	KIAA0753	ORPHA:2754
HP:0020045	Esodeviation	7874	USP7	ORPHA:500055
HP:0020045	Esodeviation	65250	CPLANE1	OMIM:277170
HP:0020045	Esodeviation	65250	CPLANE1	ORPHA:2754
HP:0020045	Esodeviation	1182	CLCN3	OMIM:619512
HP:0020045	Esodeviation	8270	LAGE3	OMIM:301006
HP:0020045	Esodeviation	51604	PIGT	OMIM:615398
HP:0020045	Esodeviation	5457	POU4F1	OMIM:619352
HP:0020045	Esodeviation	55773	TBC1D23	OMIM:617695
HP:0020045	Esodeviation	55699	IARS2	OMIM:616007
HP:0020045	Esodeviation	8363	H4C11	OMIM:619759
HP:0020045	Esodeviation	57514	ARHGAP31	OMIM:100300
HP:0020045	Esodeviation	11340	EXOSC8	ORPHA:2254
HP:0020045	Esodeviation	23287	AGTPBP1	ORPHA:2254
HP:0020045	Esodeviation	51010	EXOSC3	ORPHA:2254
HP:0020045	Esodeviation	7443	VRK1	ORPHA:2254
HP:0020045	Esodeviation	91137	SLC25A46	ORPHA:2254
HP:0020045	Esodeviation	285175	UNC80	OMIM:616801
HP:0020045	Esodeviation	285175	UNC80	ORPHA:371364
HP:0020045	Esodeviation	259232	NALCN	ORPHA:371364
HP:0020045	Esodeviation	259232	NALCN	OMIM:616266
HP:0020045	Esodeviation	773	CACNA1A	ORPHA:2131
HP:0020045	Esodeviation	773	CACNA1A	OMIM:617106
HP:0020045	Esodeviation	6507	SLC1A3	ORPHA:2131
HP:0020045	Esodeviation	477	ATP1A2	ORPHA:2131
HP:0020045	Esodeviation	478	ATP1A3	ORPHA:2131
HP:0020045	Esodeviation	1528	CYB5A	ORPHA:621
HP:0020045	Esodeviation	1727	CYB5R3	ORPHA:621
HP:0020045	Esodeviation	5728	PTEN	ORPHA:101070
HP:0020045	Esodeviation	2255	FGF10	OMIM:620193
HP:0020045	Esodeviation	10682	EBP	OMIM:300960
HP:0020045	Esodeviation	55210	ATAD3A	ORPHA:496790
HP:0020045	Esodeviation	55210	ATAD3A	OMIM:617183
HP:0020045	Esodeviation	23556	PIGN	ORPHA:280633
HP:0020045	Esodeviation	8567	MADD	OMIM:619004
HP:0020045	Esodeviation	6857	SYT1	ORPHA:522077
HP:0020045	Esodeviation	84343	HPS3	OMIM:614072
HP:0020045	Esodeviation	388552	BLOC1S3	OMIM:614077
HP:0020045	Esodeviation	56098	PCDHGC4	OMIM:619880
HP:0020045	Esodeviation	113179	ADAT3	OMIM:615286
HP:0020045	Esodeviation	57688	ZSWIM6	OMIM:617865
HP:0020045	Esodeviation	163175	LGI4	OMIM:617468
HP:0020045	Esodeviation	60482	SLC5A7	ORPHA:98914
HP:0020045	Esodeviation	4649	MYO9A	ORPHA:98914
HP:0020045	Esodeviation	1305	COL13A1	ORPHA:98914
HP:0020045	Esodeviation	1103	CHAT	ORPHA:98914
HP:0020045	Esodeviation	6576	SLC25A1	ORPHA:98914
HP:0020045	Esodeviation	6843	VAMP1	ORPHA:98914
HP:0020045	Esodeviation	375790	AGRN	ORPHA:98914
HP:0020045	Esodeviation	127833	SYT2	ORPHA:98914
HP:0020045	Esodeviation	6572	SLC18A3	ORPHA:98914
HP:0020045	Esodeviation	6616	SNAP25	ORPHA:98914
HP:0020045	Esodeviation	471	ATIC	OMIM:608688
HP:0020045	Esodeviation	84628	NTNG2	OMIM:618718
HP:0020045	Esodeviation	1650	DDOST	ORPHA:300536
HP:0020045	Esodeviation	5295	PIK3R1	OMIM:269880
HP:0020045	Esodeviation	54802	TRIT1	OMIM:617873
HP:0020045	Esodeviation	23154	NCDN	OMIM:619373
HP:0020045	Esodeviation	6651	SON	ORPHA:500150
HP:0020045	Esodeviation	55084	SOBP	OMIM:613671
HP:0020045	Esodeviation	1284	COL4A2	OMIM:614483
HP:0020045	Esodeviation	83938	LRMDA	OMIM:615179
HP:0020045	Esodeviation	11152	WDR45	OMIM:615179
HP:0020045	Esodeviation	84168	ANTXR1	OMIM:230740
HP:0020045	Esodeviation	23219	FBXO28	OMIM:619777
HP:0020045	Esodeviation	2961	GTF2E2	OMIM:616943
HP:0020045	Esodeviation	2961	GTF2E2	ORPHA:33364
HP:0020045	Esodeviation	404672	GTF2H5	ORPHA:33364
HP:0020045	Esodeviation	833	CARS1	ORPHA:33364
HP:0020045	Esodeviation	2068	ERCC2	ORPHA:33364
HP:0020045	Esodeviation	7737	RNF113A	ORPHA:33364
HP:0020045	Esodeviation	136647	MPLKIP	ORPHA:33364
HP:0020045	Esodeviation	6897	TARS1	ORPHA:33364
HP:0020045	Esodeviation	2071	ERCC3	ORPHA:33364
HP:0020045	Esodeviation	8813	DPM1	ORPHA:79322
HP:0020045	Esodeviation	10210	TOPORS	ORPHA:2754
HP:0020045	Esodeviation	26123	TCTN3	ORPHA:2754
HP:0020045	Esodeviation	5147	PDE6D	ORPHA:2754
HP:0020045	Esodeviation	8481	OFD1	ORPHA:2754
HP:0020045	Esodeviation	317662	FAM149B1	ORPHA:2754
HP:0020045	Esodeviation	374654	KIF7	ORPHA:2754
HP:0020045	Esodeviation	84978	FRMD5	OMIM:620094
HP:0020045	Esodeviation	9469	CHST3	OMIM:245600
HP:0020045	Esodeviation	26229	B3GAT3	OMIM:245600
HP:0020045	Esodeviation	129285	PPP1R21	OMIM:619383
HP:0020045	Esodeviation	2629	GBA1	OMIM:230900
HP:0020045	Esodeviation	23102	TBC1D2B	ORPHA:397973
HP:0020045	Esodeviation	5813	PURA	OMIM:616158
HP:0020045	Esodeviation	84148	KAT8	OMIM:618974
HP:0020045	Esodeviation	4654	MYOD1	OMIM:618975
HP:0020045	Esodeviation	6935	ZEB1	ORPHA:98973
HP:0020045	Esodeviation	30813	VSX1	ORPHA:98973
HP:0020045	Esodeviation	58495	OVOL2	ORPHA:98973
HP:0020045	Esodeviation	79977	GRHL2	ORPHA:98973
HP:0020045	Esodeviation	1296	COL8A2	ORPHA:98973
HP:0020045	Esodeviation	9990	SLC12A6	OMIM:218000
HP:0020045	Esodeviation	10075	HUWE1	OMIM:309590
HP:0020045	Esodeviation	1804	DPP6	ORPHA:2514
HP:0020045	Esodeviation	4001	LMNB1	ORPHA:2514
HP:0020045	Esodeviation	1185	CLCN6	OMIM:619173
HP:0020045	Esodeviation	8777	MPDZ	OMIM:615219
HP:0020045	Esodeviation	324	APC	ORPHA:99818
HP:0020045	Esodeviation	146167	SLC38A8	OMIM:609218
HP:0020045	Esodeviation	9578	CDC42BPB	OMIM:619841
HP:0020045	Esodeviation	5528	PPP2R5D	ORPHA:457279
HP:0020045	Esodeviation	92255	LMBRD2	OMIM:619694
HP:0020045	Esodeviation	84065	TMEM222	OMIM:619470
HP:0020045	Esodeviation	16	AARS1	OMIM:619691
HP:0020045	Esodeviation	10128	LRPPRC	OMIM:220111
HP:0020045	Esodeviation	11212	PLPBP	OMIM:617290
HP:0020045	Esodeviation	85365	ALG2	OMIM:607906
HP:0020045	Esodeviation	5193	PEX12	OMIM:266510
HP:0020045	Esodeviation	54517	PUS7	OMIM:618342
HP:0020045	Esodeviation	5119	CHMP1A	OMIM:614961
HP:0020045	Esodeviation	79797	ZNF408	OMIM:616468
HP:0020045	Esodeviation	2186	BPTF	OMIM:617755
HP:0020045	Esodeviation	191	AHCY	OMIM:613752
HP:0020045	Esodeviation	7994	KAT6A	OMIM:616268
HP:0020045	Esodeviation	23314	SATB2	ORPHA:251028
HP:0020045	Esodeviation	9894	TELO2	ORPHA:488642
HP:0020045	Esodeviation	55325	UFSP2	OMIM:620028
HP:0020045	Esodeviation	8364	H4C3	OMIM:619758
HP:0020045	Esodeviation	10060	ABCC9	OMIM:619719
HP:0020045	Esodeviation	79087	ALG12	OMIM:607143
HP:0020045	Esodeviation	1737	DLAT	OMIM:245348
HP:0020045	Esodeviation	55610	VPS50	OMIM:619685
HP:0020045	Esodeviation	84842	HPDL	OMIM:619026
HP:0020045	Esodeviation	27077	B9D1	OMIM:617120
HP:0020045	Esodeviation	5058	PAK1	OMIM:618158
HP:0020045	Esodeviation	2702	GJA5	OMIM:612474
HP:0020045	Esodeviation	2703	GJA8	OMIM:612474
HP:0020045	Esodeviation	83479	DDX59	OMIM:174300
HP:0020045	Esodeviation	55367	PIDD1	OMIM:619827
HP:0020045	Esodeviation	1642	DDB1	OMIM:619426
HP:0020045	Esodeviation	9382	COG1	OMIM:611209
HP:0020045	Esodeviation	5297	PI4KA	OMIM:619708
HP:0020045	Esodeviation	5373	PMM2	OMIM:212065
HP:0020045	Esodeviation	55343	SLC35C1	ORPHA:99843
HP:0020045	Esodeviation	10093	ARPC4	OMIM:620141
HP:0020045	Esodeviation	6899	TBX1	OMIM:188400
HP:0020045	Esodeviation	51102	MECR	OMIM:617282
HP:0020045	Esodeviation	51102	MECR	ORPHA:508093
HP:0020045	Esodeviation	6334	SCN8A	OMIM:614306
HP:0020045	Esodeviation	3211	HOXB1	OMIM:614744
HP:0020045	Esodeviation	57498	KIDINS220	ORPHA:521390
HP:0020045	Esodeviation	55605	KIF21A	OMIM:135700
HP:0020045	Esodeviation	9968	MED12	OMIM:301068
HP:0020046	Accommodative esotropia	6899	TBX1	OMIM:188400
HP:0020046	Accommodative esotropia	10093	ARPC4	OMIM:620141
HP:0020046	Accommodative esotropia	9968	MED12	OMIM:301068
HP:0020047	Abnormal myeloid cell morphology	9493	KIF23	ORPHA:98870
HP:0020047	Abnormal myeloid cell morphology	29127	RACGAP1	ORPHA:98870
HP:0020047	Abnormal myeloid cell morphology	114803	MYSM1	ORPHA:508542
HP:0020047	Abnormal myeloid cell morphology	7317	UBA1	OMIM:301054
HP:0020047	Abnormal myeloid cell morphology	6573	SLC19A1	OMIM:601775
HP:0020047	Abnormal myeloid cell morphology	51428	DDX41	OMIM:616871
HP:0020047	Abnormal myeloid cell morphology	84529	CDIN1	OMIM:615631
HP:0020049	Exodeviation	6535	SLC6A8	OMIM:300352
HP:0020049	Exodeviation	23394	ADNP	ORPHA:404448
HP:0020049	Exodeviation	104	ADARB1	OMIM:618862
HP:0020049	Exodeviation	6477	SIAH1	OMIM:619314
HP:0020049	Exodeviation	23135	KDM6B	OMIM:618505
HP:0020049	Exodeviation	7299	TYR	OMIM:203100
HP:0020049	Exodeviation	79912	PYROXD1	OMIM:617258
HP:0020049	Exodeviation	7355	SLC35A2	ORPHA:356961
HP:0020049	Exodeviation	1798	DPAGT1	OMIM:608093
HP:0020049	Exodeviation	1798	DPAGT1	ORPHA:86309
HP:0020049	Exodeviation	55325	UFSP2	OMIM:620028
HP:0020049	Exodeviation	23028	KDM1A	OMIM:616728
HP:0020049	Exodeviation	23028	KDM1A	ORPHA:477993
HP:0020049	Exodeviation	778	CACNA1F	OMIM:300071
HP:0020049	Exodeviation	91147	TMEM67	OMIM:602152
HP:0020049	Exodeviation	10093	ARPC4	OMIM:620141
HP:0020049	Exodeviation	5631	PRPS1	ORPHA:423479
HP:0020049	Exodeviation	9227	LRAT	ORPHA:364055
HP:0020049	Exodeviation	55812	SPATA7	ORPHA:364055
HP:0020049	Exodeviation	6121	RPE65	ORPHA:364055
HP:0020049	Exodeviation	167691	LCA5	ORPHA:364055
HP:0020049	Exodeviation	6873	TAF2	ORPHA:397951
HP:0020049	Exodeviation	65993	MRPS34	OMIM:617664
HP:0020049	Exodeviation	2782	GNB1	OMIM:616973
HP:0020049	Exodeviation	998	CDC42	OMIM:616737
HP:0020049	Exodeviation	998	CDC42	ORPHA:487796
HP:0020049	Exodeviation	55768	NGLY1	ORPHA:404454
HP:0020049	Exodeviation	6660	SOX5	ORPHA:313892
HP:0020049	Exodeviation	473	RERE	ORPHA:494344
HP:0020049	Exodeviation	9289	ADGRG1	OMIM:606854
HP:0020049	Exodeviation	2200	FBN1	OMIM:154700
HP:0020049	Exodeviation	55906	ZC4H2	OMIM:314580
HP:0020049	Exodeviation	63035	BCORL1	OMIM:301029
HP:0020049	Exodeviation	10381	TUBB3	OMIM:600638
HP:0020049	Exodeviation	10352	WARS2	OMIM:617710
HP:0020049	Exodeviation	10352	WARS2	ORPHA:572798
HP:0020049	Exodeviation	91137	SLC25A46	OMIM:616505
HP:0020049	Exodeviation	36	ACADSB	OMIM:610006
HP:0020049	Exodeviation	22827	PUF60	ORPHA:508488
HP:0020049	Exodeviation	6045	RNF2	OMIM:619460
HP:0020049	Exodeviation	6899	TBX1	OMIM:188400
HP:0020049	Exodeviation	23418	CRB1	OMIM:600105
HP:0020049	Exodeviation	51651	PTRH2	ORPHA:456312
HP:0020049	Exodeviation	51651	PTRH2	OMIM:616263
HP:0020049	Exodeviation	5442	POLRMT	OMIM:619743
HP:0020049	Exodeviation	54681	P4HTM	OMIM:618493
HP:0020049	Exodeviation	3188	HNRNPH2	OMIM:300986
HP:0020049	Exodeviation	2783	GNB2	OMIM:619503
HP:0020049	Exodeviation	23268	DNMBP	OMIM:618415
HP:0020049	Exodeviation	9419	CRIPT	OMIM:615789
HP:0020049	Exodeviation	6297	SALL2	OMIM:216820
HP:0020049	Exodeviation	401	PHOX2A	OMIM:602078
HP:0020049	Exodeviation	9997	SCO2	OMIM:604377
HP:0020049	Exodeviation	9997	SCO2	ORPHA:521411
HP:0020049	Exodeviation	1947	EFNB1	OMIM:304110
HP:0020049	Exodeviation	7025	NR2F1	ORPHA:401777
HP:0020049	Exodeviation	2261	FGFR3	OMIM:616482
HP:0020049	Exodeviation	2261	FGFR3	ORPHA:2363
HP:0020049	Exodeviation	57187	THOC2	OMIM:300957
HP:0020049	Exodeviation	149371	EXOC8	OMIM:619076
HP:0020049	Exodeviation	23126	POGZ	OMIM:616364
HP:0020049	Exodeviation	94137	RP1L1	OMIM:618826
HP:0020049	Exodeviation	9255	AIMP1	OMIM:260600
HP:0020049	Exodeviation	773	CACNA1A	ORPHA:2131
HP:0020049	Exodeviation	6507	SLC1A3	ORPHA:2131
HP:0020049	Exodeviation	477	ATP1A2	ORPHA:2131
HP:0020049	Exodeviation	90624	LYRM7	OMIM:615838
HP:0020049	Exodeviation	1282	COL4A1	OMIM:175780
HP:0020049	Exodeviation	80036	TRPM3	OMIM:620224
HP:0020049	Exodeviation	6134	RPL10	ORPHA:459070
HP:0020049	Exodeviation	6638	SNRPN	OMIM:105830
HP:0020049	Exodeviation	7337	UBE3A	OMIM:105830
HP:0020049	Exodeviation	1859	DYRK1A	ORPHA:464311
HP:0020049	Exodeviation	283209	PGM2L1	OMIM:620191
HP:0020049	Exodeviation	54880	BCOR	OMIM:300166
HP:0020049	Exodeviation	26503	SLC17A5	OMIM:604369
HP:0020049	Exodeviation	8567	MADD	OMIM:619005
HP:0020049	Exodeviation	388552	BLOC1S3	OMIM:614077
HP:0020049	Exodeviation	56098	PCDHGC4	OMIM:619880
HP:0020049	Exodeviation	4617	MYF5	OMIM:618155
HP:0020049	Exodeviation	2255	FGF10	ORPHA:2363
HP:0020049	Exodeviation	55717	WDR11	OMIM:620237
HP:0020049	Exodeviation	29920	PYCR2	OMIM:616420
HP:0020049	Exodeviation	6651	SON	ORPHA:500150
HP:0020049	Exodeviation	546	ATRX	OMIM:309580
HP:0020049	Exodeviation	57479	PRR12	OMIM:619539
HP:0020049	Exodeviation	83938	LRMDA	OMIM:615179
HP:0020049	Exodeviation	11152	WDR45	OMIM:615179
HP:0020049	Exodeviation	4088	SMAD3	OMIM:613795
HP:0020049	Exodeviation	4948	OCA2	OMIM:203200
HP:0020049	Exodeviation	4157	MC1R	OMIM:203200
HP:0020049	Exodeviation	7048	TGFBR2	OMIM:610168
HP:0020049	Exodeviation	79583	TMEM231	ORPHA:2752
HP:0020049	Exodeviation	64802	NMNAT1	OMIM:619260
HP:0020049	Exodeviation	3030	HADHA	ORPHA:5
HP:0020049	Exodeviation	120	ADD3	OMIM:617008
HP:0020049	Exodeviation	7046	TGFBR1	OMIM:609192
HP:0020049	Exodeviation	7490	WT1	OMIM:106210
HP:0020049	Exodeviation	5080	PAX6	OMIM:106210
HP:0020049	Exodeviation	91574	MTRFR	ORPHA:254930
HP:0020049	Exodeviation	84842	HPDL	OMIM:619026
HP:0020049	Exodeviation	51116	MRPS2	OMIM:617950
HP:0020049	Exodeviation	23327	NEDD4L	OMIM:617201
HP:0020049	Exodeviation	478	ATP1A3	OMIM:619606
HP:0020049	Exodeviation	29926	GMPPA	OMIM:615510
HP:0020049	Exodeviation	23400	ATP13A2	OMIM:617225
HP:0020049	Exodeviation	2263	FGFR2	OMIM:123790
HP:0020049	Exodeviation	2890	GRIA1	OMIM:619931
HP:0020049	Exodeviation	3166	HMX1	OMIM:612109
HP:0020049	Exodeviation	1009	CDH11	OMIM:211380
HP:0020049	Exodeviation	2702	GJA5	OMIM:612474
HP:0020049	Exodeviation	2703	GJA8	OMIM:612474
HP:0020049	Exodeviation	27125	AFF4	ORPHA:444077
HP:0020049	Exodeviation	57531	HACE1	ORPHA:464282
HP:0020049	Exodeviation	60684	TRAPPC11	ORPHA:369840
HP:0020049	Exodeviation	23291	FBXW11	OMIM:618914
HP:0020049	Exodeviation	8367	H4C5	OMIM:619950
HP:0020049	Exodeviation	2590	GALNT2	OMIM:618885
HP:0020049	Exodeviation	224	ALDH3A2	OMIM:270200
HP:0020049	Exodeviation	55605	KIF21A	OMIM:135700
HP:0020049	Exodeviation	4841	NONO	ORPHA:466791
HP:0030260	Microphallus	2188	FANCF	OMIM:603467
HP:0030260	Microphallus	3284	HSD3B2	OMIM:201810
HP:0030260	Microphallus	4983	OPHN1	OMIM:300486
HP:0030260	Microphallus	114034	TOE1	ORPHA:284339
HP:0030260	Microphallus	9562	MINPP1	ORPHA:284339
HP:0030260	Microphallus	25942	SIN3A	ORPHA:94065
HP:0030260	Microphallus	25942	SIN3A	OMIM:613406
HP:0030260	Microphallus	8295	TRRAP	OMIM:618454
HP:0030260	Microphallus	54809	SAMD9	OMIM:617053
HP:0030260	Microphallus	57187	THOC2	OMIM:300957
HP:0030260	Microphallus	6870	TACR3	OMIM:614840
HP:0030260	Microphallus	3481	IGF2	ORPHA:397590
HP:0030260	Microphallus	1028	CDKN1C	ORPHA:397590
HP:0030260	Microphallus	5324	PLAG1	ORPHA:397590
HP:0030260	Microphallus	8091	HMGA2	ORPHA:397590
HP:0030260	Microphallus	2626	GATA4	OMIM:615542
HP:0030260	Microphallus	22858	CILK1	OMIM:612651
HP:0030260	Microphallus	25914	RTTN	ORPHA:468631
HP:0030265	Wide penis	83550	GPR101	ORPHA:963
HP:0030265	Wide penis	9049	AIP	ORPHA:963
HP:0030265	Wide penis	11128	POLR3A	ORPHA:3455
HP:0010456	Abnormal greater sciatic notch morphology	1836	SLC26A2	OMIM:256050
HP:0010456	Abnormal greater sciatic notch morphology	2137	EXTL3	ORPHA:508533
HP:0010456	Abnormal greater sciatic notch morphology	2137	EXTL3	OMIM:617425
HP:0010456	Abnormal greater sciatic notch morphology	54808	DYM	OMIM:223800
HP:0010456	Abnormal greater sciatic notch morphology	59341	TRPV4	OMIM:184252
HP:0010456	Abnormal greater sciatic notch morphology	59341	TRPV4	OMIM:156530
HP:0010456	Abnormal greater sciatic notch morphology	65992	DDRGK1	OMIM:602557
HP:0010456	Abnormal greater sciatic notch morphology	1280	COL2A1	OMIM:184250
HP:0010456	Abnormal greater sciatic notch morphology	1280	COL2A1	ORPHA:93316
HP:0010456	Abnormal greater sciatic notch morphology	153241	CEP120	OMIM:616300
HP:0010456	Abnormal greater sciatic notch morphology	2990	GUSB	OMIM:253220
HP:0010456	Abnormal greater sciatic notch morphology	2261	FGFR3	OMIM:100800
HP:0010456	Abnormal greater sciatic notch morphology	2261	FGFR3	ORPHA:15
HP:0010456	Abnormal greater sciatic notch morphology	755	CFAP410	OMIM:602271
HP:0010456	Abnormal greater sciatic notch morphology	145258	GSC	OMIM:602471
HP:0010456	Abnormal greater sciatic notch morphology	4148	MATN3	OMIM:608728
HP:0010456	Abnormal greater sciatic notch morphology	79796	ALG9	ORPHA:79328
HP:0010456	Abnormal greater sciatic notch morphology	79796	ALG9	OMIM:263210
HP:0010456	Abnormal greater sciatic notch morphology	1301	COL11A1	OMIM:228520
HP:0010456	Abnormal greater sciatic notch morphology	5130	PCYT1A	ORPHA:85167
HP:0010456	Abnormal greater sciatic notch morphology	5130	PCYT1A	OMIM:608940
HP:0010456	Abnormal greater sciatic notch morphology	51119	SBDS	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	134218	DNAJC21	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	6729	SRP54	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	27152	INTU	OMIM:617925
HP:0010456	Abnormal greater sciatic notch morphology	2719	GPC3	OMIM:312870
HP:0010456	Abnormal greater sciatic notch morphology	2239	GPC4	OMIM:312870
HP:0010456	Abnormal greater sciatic notch morphology	2879	GPX4	OMIM:250220
HP:0030268	Hyperplastic callus formation	3868	KRT16	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3872	KRT17	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3853	KRT6A	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3854	KRT6B	ORPHA:2309
HP:0030268	Hyperplastic callus formation	387733	IFITM5	OMIM:610967
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	4221	MEN1	ORPHA:99725
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	9049	AIP	ORPHA:99725
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	9049	AIP	OMIM:102200
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	3480	IGF1R	OMIM:270450
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	5573	PRKAR1A	ORPHA:1359
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	50940	PDE11A	ORPHA:1359
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	83550	GPR101	OMIM:300942
HP:0030264	Webbed penis	9839	ZEB2	ORPHA:261537
HP:0030264	Webbed penis	9839	ZEB2	ORPHA:261552
HP:0030264	Webbed penis	83550	GPR101	ORPHA:963
HP:0030264	Webbed penis	9049	AIP	ORPHA:963
HP:0030264	Webbed penis	11128	POLR3A	ORPHA:3455
HP:0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	1439	CSF2RB	OMIM:614370
HP:0020054	Abnormal erythrocyte physiology	2035	EPB41	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	2995	GYPC	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	OMIM:616649
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	6708	SPTA1	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6708	SPTA1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	5313	PKLR	OMIM:266200
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	OMIM:185000
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	OMIM:268150
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	ORPHA:3203
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	OMIM:612653
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	9780	PIEZO1	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	3783	KCNN4	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	2038	EPB42	OMIM:612690
HP:0020054	Abnormal erythrocyte physiology	2038	EPB42	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	6006	RHCE	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	6007	RHD	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	286	ANK1	OMIM:182900
HP:0020054	Abnormal erythrocyte physiology	286	ANK1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	8671	SLC4A4	OMIM:604278
HP:0020054	Abnormal erythrocyte physiology	3043	HBB	ORPHA:2133
HP:0020058	Abnormal red blood cell count	3043	HBB	ORPHA:2133
HP:0020059	Increased red blood cell count	3043	HBB	ORPHA:2133
HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	5213	PFKM	OMIM:232800
HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	5313	PKLR	OMIM:102900
HP:0030272	Abnormal erythrocyte enzyme level	5313	PKLR	OMIM:266200
HP:0030272	Abnormal erythrocyte enzyme level	5313	PKLR	ORPHA:766
HP:0030272	Abnormal erythrocyte enzyme level	6135	RPL11	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6138	RPL15	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6138	RPL15	OMIM:615550
HP:0030272	Abnormal erythrocyte enzyme level	6229	RPS24	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6229	RPS24	OMIM:610629
HP:0030272	Abnormal erythrocyte enzyme level	6125	RPL5	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6204	RPS10	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6224	RPS20	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6165	RPL35A	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	2623	GATA1	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6223	RPS19	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6223	RPS19	OMIM:105650
HP:0030272	Abnormal erythrocyte enzyme level	6232	RPS27	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6231	RPS26	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	11224	RPL35	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6160	RPL31	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6218	RPS17	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6201	RPS7	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6155	RPL27	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6154	RPL26	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6210	RPS15A	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	90121	TSR2	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	90121	TSR2	OMIM:300946
HP:0030272	Abnormal erythrocyte enzyme level	6141	RPL18	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6235	RPS29	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	6235	RPS29	OMIM:615909
HP:0030272	Abnormal erythrocyte enzyme level	6234	RPS28	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	51816	ADA2	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme level	2592	GALT	ORPHA:79239
HP:0030272	Abnormal erythrocyte enzyme level	23230	VPS13A	ORPHA:2388
HP:0030272	Abnormal erythrocyte enzyme level	3795	KHK	ORPHA:2056
HP:0030272	Abnormal erythrocyte enzyme level	5631	PRPS1	ORPHA:1187
HP:0030272	Abnormal erythrocyte enzyme level	210	ALAD	ORPHA:100924
HP:0030272	Abnormal erythrocyte enzyme level	5256	PHKA2	ORPHA:264580
HP:0030272	Abnormal erythrocyte enzyme level	5261	PHKG2	ORPHA:264580
HP:0030272	Abnormal erythrocyte enzyme level	5277	PIGA	ORPHA:447
HP:0030272	Abnormal erythrocyte enzyme level	100	ADA	OMIM:102700
HP:0030273	Reduced red cell adenosine deaminase level	100	ADA	OMIM:102700
HP:0030270	Elevated red cell adenosine deaminase level	6135	RPL11	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6138	RPL15	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6138	RPL15	OMIM:615550
HP:0030270	Elevated red cell adenosine deaminase level	6229	RPS24	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6229	RPS24	OMIM:610629
HP:0030270	Elevated red cell adenosine deaminase level	6125	RPL5	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6204	RPS10	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6224	RPS20	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6165	RPL35A	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	2623	GATA1	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6223	RPS19	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6223	RPS19	OMIM:105650
HP:0030270	Elevated red cell adenosine deaminase level	6232	RPS27	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6231	RPS26	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	11224	RPL35	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6160	RPL31	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6218	RPS17	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6201	RPS7	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6155	RPL27	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6154	RPL26	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6210	RPS15A	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	90121	TSR2	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	90121	TSR2	OMIM:300946
HP:0030270	Elevated red cell adenosine deaminase level	6141	RPL18	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6235	RPS29	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	6235	RPS29	OMIM:615909
HP:0030270	Elevated red cell adenosine deaminase level	6234	RPS28	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase level	51816	ADA2	ORPHA:124
HP:0000046	Small scrotum	2737	GLI3	ORPHA:672
HP:0000046	Small scrotum	341640	FREM2	ORPHA:2052
HP:0000046	Small scrotum	80144	FRAS1	ORPHA:2052
HP:0000046	Small scrotum	23426	GRIP1	ORPHA:2052
HP:0000046	Small scrotum	23426	GRIP1	OMIM:617667
HP:0000046	Small scrotum	5447	POR	OMIM:201750
HP:0000046	Small scrotum	6662	SOX9	ORPHA:2138
HP:0000046	Small scrotum	2516	NR5A1	ORPHA:2138
HP:0000046	Small scrotum	6736	SRY	ORPHA:2138
HP:0000046	Small scrotum	25782	RAB3GAP2	OMIM:614225
HP:0000046	Small scrotum	201595	STT3B	OMIM:615597
HP:0000046	Small scrotum	201595	STT3B	ORPHA:370924
HP:0000046	Small scrotum	22931	RAB18	OMIM:614222
HP:0000046	Small scrotum	29957	SLC25A24	OMIM:612289
HP:0000046	Small scrotum	10056	FARSB	OMIM:613658
HP:0000046	Small scrotum	7681	MKRN3	OMIM:176270
HP:0000046	Small scrotum	3653	IPW	OMIM:176270
HP:0000046	Small scrotum	54551	MAGEL2	OMIM:176270
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:98754
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:177904
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:177901
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:398069
HP:0000046	Small scrotum	791114	PWRN1	OMIM:176270
HP:0000046	Small scrotum	100033413	SNORD116-1	OMIM:176270
HP:0000046	Small scrotum	8924	HERC2	OMIM:176270
HP:0000046	Small scrotum	145624	PWAR1	OMIM:176270
HP:0000046	Small scrotum	23742	NPAP1	OMIM:176270
HP:0000046	Small scrotum	338433	SNORD115-1	OMIM:176270
HP:0000046	Small scrotum	84172	POLR1B	ORPHA:861
HP:0000046	Small scrotum	9533	POLR1C	ORPHA:861
HP:0000046	Small scrotum	51082	POLR1D	ORPHA:861
HP:0000046	Small scrotum	6949	TCOF1	ORPHA:861
HP:0000046	Small scrotum	4983	OPHN1	OMIM:300486
HP:0000046	Small scrotum	51124	IER3IP1	OMIM:614231
HP:0000046	Small scrotum	23522	KAT6B	ORPHA:85201
HP:0000046	Small scrotum	23522	KAT6B	OMIM:606170
HP:0000046	Small scrotum	3664	IRF6	OMIM:119500
HP:0000046	Small scrotum	3664	IRF6	ORPHA:1300
HP:0000046	Small scrotum	84162	BLTP1	OMIM:617822
HP:0000046	Small scrotum	4010	LMX1B	ORPHA:495818
HP:0000046	Small scrotum	6812	STXBP1	ORPHA:495818
HP:0000046	Small scrotum	6492	SIM1	ORPHA:398079
HP:0000046	Small scrotum	22858	CILK1	OMIM:612651
HP:0000046	Small scrotum	6595	SMARCA2	ORPHA:2728
HP:0000046	Small scrotum	10982	MAPRE2	OMIM:616734
HP:0000046	Small scrotum	10982	MAPRE2	ORPHA:2505
HP:0000046	Small scrotum	5818	NECTIN1	ORPHA:3253
HP:0000046	Small scrotum	2068	ERCC2	OMIM:610756
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:98754
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:177904
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:177901
HP:0000046	Small scrotum	4692	NDN	ORPHA:98754
HP:0000046	Small scrotum	4692	NDN	ORPHA:177904
HP:0000046	Small scrotum	4692	NDN	ORPHA:177901
HP:0000046	Small scrotum	4948	OCA2	ORPHA:98754
HP:0000046	Small scrotum	4948	OCA2	ORPHA:177904
HP:0000046	Small scrotum	4948	OCA2	ORPHA:177901
HP:0000046	Small scrotum	3703	STT3A	ORPHA:370921
HP:0000046	Small scrotum	7259	TSPYL1	ORPHA:168593
HP:0000046	Small scrotum	9968	MED12	OMIM:300895
HP:0000046	Small scrotum	546	ATRX	OMIM:309580
HP:0000046	Small scrotum	6261	RYR1	ORPHA:98905
HP:0000046	Small scrotum	7476	WNT7A	OMIM:276820
HP:0000046	Small scrotum	4621	MYH3	ORPHA:2990
HP:0000046	Small scrotum	1146	CHRNG	ORPHA:2990
HP:0000046	Small scrotum	84295	PHF6	ORPHA:127
HP:0000046	Small scrotum	79087	ALG12	OMIM:607143
HP:0000046	Small scrotum	1717	DHCR7	OMIM:270400
HP:0000046	Small scrotum	3730	ANOS1	OMIM:308700
HP:0000046	Small scrotum	10908	PNPLA6	OMIM:245800
HP:0000046	Small scrotum	6926	TBX3	OMIM:181450
HP:0000046	Small scrotum	652	BMP4	OMIM:607932
HP:0000046	Small scrotum	8295	TRRAP	OMIM:618454
HP:0000046	Small scrotum	372	ARCN1	OMIM:617164
HP:0000046	Small scrotum	60529	ALX4	ORPHA:228390
HP:0000046	Small scrotum	128637	TBC1D20	OMIM:615663
HP:0000046	Small scrotum	203068	TUBB	ORPHA:2505
HP:0000046	Small scrotum	26040	SETBP1	OMIM:269150
HP:0000046	Small scrotum	23594	ORC6	OMIM:613803
HP:0000046	Small scrotum	6716	SRD5A2	ORPHA:753
HP:0030277	Abnormal vertebral pedicle morphology	4089	SMAD4	OMIM:139210
HP:0020061	Abnormal hemoglobin concentration	8029	CUBN	ORPHA:35858
HP:0020061	Abnormal hemoglobin concentration	81693	AMN	ORPHA:35858
HP:0020061	Abnormal hemoglobin concentration	10661	KLF1	OMIM:613673
HP:0020061	Abnormal hemoglobin concentration	5313	PKLR	OMIM:266200
HP:0020061	Abnormal hemoglobin concentration	5230	PGK1	ORPHA:713
HP:0020061	Abnormal hemoglobin concentration	8567	MADD	OMIM:619004
HP:0020061	Abnormal hemoglobin concentration	8567	MADD	OMIM:619005
HP:0020061	Abnormal hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0020061	Abnormal hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0020061	Abnormal hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0020062	Decreased hemoglobin concentration	10661	KLF1	OMIM:613673
HP:0020062	Decreased hemoglobin concentration	5313	PKLR	OMIM:266200
HP:0020062	Decreased hemoglobin concentration	5230	PGK1	ORPHA:713
HP:0020062	Decreased hemoglobin concentration	8567	MADD	OMIM:619004
HP:0020062	Decreased hemoglobin concentration	8567	MADD	OMIM:619005
HP:0020063	Increased hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0020063	Increased hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0020063	Increased hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0020064	Abnormal eosinophil count	355	FAS	ORPHA:3261
HP:0020064	Abnormal eosinophil count	355	FAS	OMIM:601859
HP:0020064	Abnormal eosinophil count	356	FASLG	ORPHA:3261
HP:0020064	Abnormal eosinophil count	356	FASLG	OMIM:601859
HP:0020064	Abnormal eosinophil count	5580	PRKCD	ORPHA:3261
HP:0020064	Abnormal eosinophil count	843	CASP10	ORPHA:3261
HP:0020064	Abnormal eosinophil count	843	CASP10	OMIM:603909
HP:0020064	Abnormal eosinophil count	10125	RASGRP1	ORPHA:3261
HP:0020064	Abnormal eosinophil count	7454	WAS	OMIM:301000
HP:0020064	Abnormal eosinophil count	30009	TBX21	OMIM:619630
HP:0020064	Abnormal eosinophil count	5159	PDGFRB	OMIM:131440
HP:0020064	Abnormal eosinophil count	6774	STAT3	OMIM:615952
HP:0020064	Abnormal eosinophil count	6774	STAT3	OMIM:147060
HP:0020064	Abnormal eosinophil count	6774	STAT3	ORPHA:2314
HP:0020064	Abnormal eosinophil count	5238	PGM3	ORPHA:443811
HP:0020064	Abnormal eosinophil count	5238	PGM3	OMIM:615816
HP:0020064	Abnormal eosinophil count	171023	ASXL1	ORPHA:98849
HP:0020064	Abnormal eosinophil count	54790	TET2	ORPHA:98849
HP:0020064	Abnormal eosinophil count	3815	KIT	ORPHA:98849
HP:0020064	Abnormal eosinophil count	6427	SRSF2	ORPHA:98849
HP:0020064	Abnormal eosinophil count	100151683	RNU4ATAC	ORPHA:353298
HP:0020064	Abnormal eosinophil count	100151683	RNU4ATAC	OMIM:616651
HP:0020064	Abnormal eosinophil count	5156	PDGFRA	OMIM:607685
HP:0020064	Abnormal eosinophil count	6023	RMRP	ORPHA:39041
HP:0020064	Abnormal eosinophil count	55636	CHD7	ORPHA:39041
HP:0020064	Abnormal eosinophil count	3981	LIG4	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5896	RAG1	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5896	RAG1	OMIM:603554
HP:0020064	Abnormal eosinophil count	5896	RAG1	ORPHA:331206
HP:0020064	Abnormal eosinophil count	5897	RAG2	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5897	RAG2	OMIM:603554
HP:0020064	Abnormal eosinophil count	5897	RAG2	ORPHA:331206
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	ORPHA:39041
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	OMIM:603554
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	OMIM:602450
HP:0020064	Abnormal eosinophil count	100	ADA	ORPHA:39041
HP:0020064	Abnormal eosinophil count	100	ADA	OMIM:102700
HP:0020064	Abnormal eosinophil count	3575	IL7R	ORPHA:39041
HP:0020064	Abnormal eosinophil count	3575	IL7R	ORPHA:169154
HP:0020064	Abnormal eosinophil count	3561	IL2RG	ORPHA:39041
HP:0020064	Abnormal eosinophil count	50943	FOXP3	OMIM:304790
HP:0020064	Abnormal eosinophil count	825	CAPN3	OMIM:253600
HP:0020064	Abnormal eosinophil count	113235	SLC46A1	ORPHA:90045
HP:0020064	Abnormal eosinophil count	1041	CDSN	OMIM:270300
HP:0020064	Abnormal eosinophil count	8517	IKBKG	ORPHA:464
HP:0020064	Abnormal eosinophil count	8517	IKBKG	OMIM:308300
HP:0020064	Abnormal eosinophil count	6720	SREBF1	OMIM:158310
HP:0020064	Abnormal eosinophil count	2137	EXTL3	OMIM:617425
HP:0020064	Abnormal eosinophil count	3716	JAK1	OMIM:618999
HP:0020064	Abnormal eosinophil count	5294	PIK3CG	OMIM:619802
HP:0020064	Abnormal eosinophil count	114548	NLRP3	OMIM:607115
HP:0020064	Abnormal eosinophil count	84905	ZNF341	OMIM:618282
HP:0020064	Abnormal eosinophil count	915	CD3D	ORPHA:169160
HP:0020064	Abnormal eosinophil count	916	CD3E	ORPHA:169160
HP:0020064	Abnormal eosinophil count	919	CD247	ORPHA:169160
HP:0020064	Abnormal eosinophil count	919	CD247	OMIM:610163
HP:0020064	Abnormal eosinophil count	10999	SLC27A4	ORPHA:88621
HP:0020064	Abnormal eosinophil count	3394	IRF8	OMIM:226990
HP:0020064	Abnormal eosinophil count	64919	BCL11B	OMIM:617237
HP:0020064	Abnormal eosinophil count	64919	BCL11B	OMIM:618092
HP:0020064	Abnormal eosinophil count	3572	IL6ST	OMIM:618523
HP:0020064	Abnormal eosinophil count	84433	CARD11	OMIM:617638
HP:0020064	Abnormal eosinophil count	9939	RBM8A	OMIM:274000
HP:0020064	Abnormal eosinophil count	10312	TCIRG1	ORPHA:486
HP:0020064	Abnormal eosinophil count	1991	ELANE	ORPHA:486
HP:0020064	Abnormal eosinophil count	1991	ELANE	OMIM:202700
HP:0020064	Abnormal eosinophil count	2672	GFI1	ORPHA:486
HP:0020064	Abnormal eosinophil count	6729	SRP54	ORPHA:486
HP:0020064	Abnormal eosinophil count	81570	CLPB	ORPHA:486
HP:0020064	Abnormal eosinophil count	81704	DOCK8	OMIM:243700
HP:0020064	Abnormal eosinophil count	7535	ZAP70	ORPHA:911
HP:0020064	Abnormal eosinophil count	56244	BTNL2	ORPHA:797
HP:0020064	Abnormal eosinophil count	3123	HLA-DRB1	ORPHA:797
HP:0020064	Abnormal eosinophil count	84196	USP48	ORPHA:96253
HP:0020064	Abnormal eosinophil count	7157	TP53	ORPHA:96253
HP:0020064	Abnormal eosinophil count	9101	USP8	ORPHA:96253
HP:0020064	Abnormal eosinophil count	64072	CDH23	ORPHA:96253
HP:0020064	Abnormal eosinophil count	2908	NR3C1	ORPHA:96253
HP:0020064	Abnormal eosinophil count	673	BRAF	ORPHA:96253
HP:0020064	Abnormal eosinophil count	546	ATRX	ORPHA:96253
HP:0020064	Abnormal eosinophil count	29775	CARD10	OMIM:619632
HP:0020064	Abnormal eosinophil count	11005	SPINK5	OMIM:256500
HP:0020064	Abnormal eosinophil count	64170	CARD9	OMIM:212050
HP:0020064	Abnormal eosinophil count	10526	IPO8	OMIM:619472
HP:0020064	Abnormal eosinophil count	28755	TRAC	OMIM:615387
HP:0020064	Abnormal eosinophil count	22861	NLRP1	OMIM:617388
HP:0030280	Rib gap	6628	SNRPB	ORPHA:1393
HP:0030280	Rib gap	6628	SNRPB	OMIM:117650
HP:0030280	Rib gap	9382	COG1	OMIM:611209
HP:0030280	Rib gap	9382	COG1	ORPHA:263508
HP:0030281	Cervical C3/C4 vertebral fusion	9573	GDF3	OMIM:613702
HP:0030282	Posterior rib gap	6628	SNRPB	ORPHA:1393
HP:0030282	Posterior rib gap	6628	SNRPB	OMIM:117650
HP:0030282	Posterior rib gap	9382	COG1	OMIM:611209
HP:0030282	Posterior rib gap	9382	COG1	ORPHA:263508
HP:0030284	Triangular tongue	55679	LIMS2	OMIM:616827
HP:0030289	Flattened femoral epiphysis	1280	COL2A1	OMIM:271700
HP:0030289	Flattened femoral epiphysis	1280	COL2A1	OMIM:609162
HP:0030289	Flattened femoral epiphysis	1280	COL2A1	ORPHA:166011
HP:0030289	Flattened femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0030289	Flattened femoral epiphysis	3835	KIF22	ORPHA:93360
HP:0030289	Flattened femoral epiphysis	3835	KIF22	OMIM:603546
HP:0030289	Flattened femoral epiphysis	91252	SLC39A13	ORPHA:157965
HP:0030289	Flattened femoral epiphysis	91252	SLC39A13	OMIM:612350
HP:0030289	Flattened femoral epiphysis	84572	GNPTG	OMIM:252605
HP:0030289	Flattened femoral epiphysis	8838	CCN6	ORPHA:1159
HP:0030289	Flattened femoral epiphysis	176	ACAN	OMIM:608361
HP:0030289	Flattened femoral epiphysis	1297	COL9A1	OMIM:614134
HP:0030289	Flattened femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0030289	Flattened femoral epiphysis	7227	TRPS1	OMIM:190350
HP:0030289	Flattened femoral epiphysis	9496	TBX4	OMIM:147891
HP:0030289	Flattened femoral epiphysis	4796	TONSL	ORPHA:93357
HP:0030289	Flattened femoral epiphysis	4796	TONSL	OMIM:271510
HP:0030289	Flattened femoral epiphysis	1836	SLC26A2	ORPHA:93307
HP:0030289	Flattened femoral epiphysis	59341	TRPV4	ORPHA:93314
HP:0020071	Viremia	84061	MAGT1	OMIM:300853
HP:0020071	Viremia	10043	TOM1	OMIM:619510
HP:0020071	Viremia	54790	TET2	OMIM:619126
HP:0020071	Viremia	939	CD27	OMIM:615122
HP:0020071	Viremia	28755	TRAC	OMIM:615387
HP:0020071	Viremia	3702	ITK	OMIM:613011
HP:0020071	Viremia	50619	DEF6	OMIM:619573
HP:0020071	Viremia	27040	LAT	OMIM:617514
HP:0020071	Viremia	5295	PIK3R1	OMIM:616005
HP:0020071	Viremia	5580	PRKCD	OMIM:615559
HP:0020071	Viremia	22806	IKZF3	OMIM:619437
HP:0020071	Viremia	5238	PGM3	OMIM:615816
HP:0020071	Viremia	5966	REL	OMIM:619652
HP:0020071	Viremia	7174	TPP2	OMIM:619220
HP:0020071	Viremia	3560	IL2RB	OMIM:618495
HP:0020071	Viremia	1503	CTPS1	OMIM:615897
HP:0020072	Persistent EBV viremia	84061	MAGT1	OMIM:300853
HP:0020072	Persistent EBV viremia	10043	TOM1	OMIM:619510
HP:0020072	Persistent EBV viremia	54790	TET2	OMIM:619126
HP:0020072	Persistent EBV viremia	939	CD27	OMIM:615122
HP:0020072	Persistent EBV viremia	28755	TRAC	OMIM:615387
HP:0020072	Persistent EBV viremia	3702	ITK	OMIM:613011
HP:0020072	Persistent EBV viremia	50619	DEF6	OMIM:619573
HP:0020072	Persistent EBV viremia	27040	LAT	OMIM:617514
HP:0020072	Persistent EBV viremia	5295	PIK3R1	OMIM:616005
HP:0020072	Persistent EBV viremia	5580	PRKCD	OMIM:615559
HP:0020072	Persistent EBV viremia	22806	IKZF3	OMIM:619437
HP:0020072	Persistent EBV viremia	5238	PGM3	OMIM:615816
HP:0020073	Hypopigmented macule	4221	MEN1	ORPHA:652
HP:0020073	Hypopigmented macule	4221	MEN1	OMIM:131100
HP:0020073	Hypopigmented macule	1027	CDKN1B	ORPHA:652
HP:0020073	Hypopigmented macule	1027	CDKN1B	ORPHA:276152
HP:0020073	Hypopigmented macule	1026	CDKN1A	ORPHA:652
HP:0020073	Hypopigmented macule	1030	CDKN2B	ORPHA:652
HP:0020073	Hypopigmented macule	1031	CDKN2C	ORPHA:652
HP:0020073	Hypopigmented macule	4841	NONO	ORPHA:466791
HP:0020073	Hypopigmented macule	7249	TSC2	OMIM:613254
HP:0020073	Hypopigmented macule	7249	TSC2	ORPHA:805
HP:0020073	Hypopigmented macule	3458	IFNG	OMIM:613254
HP:0020073	Hypopigmented macule	3458	IFNG	ORPHA:805
HP:0020073	Hypopigmented macule	7248	TSC1	ORPHA:805
HP:0020073	Hypopigmented macule	7248	TSC1	OMIM:191100
HP:0020073	Hypopigmented macule	3861	KRT14	ORPHA:79397
HP:0020073	Hypopigmented macule	3861	KRT14	ORPHA:79399
HP:0020073	Hypopigmented macule	134218	DNAJC21	OMIM:617052
HP:0020073	Hypopigmented macule	23328	SASH1	OMIM:618373
HP:0020073	Hypopigmented macule	5167	ENPP1	OMIM:615522
HP:0020073	Hypopigmented macule	10058	ABCB6	OMIM:615402
HP:0020073	Hypopigmented macule	10457	GPNMB	OMIM:617920
HP:0020073	Hypopigmented macule	23384	SPECC1L	OMIM:145420
HP:0020073	Hypopigmented macule	4763	NF1	OMIM:162200
HP:0020073	Hypopigmented macule	2050	EPHB4	ORPHA:137667
HP:0020073	Hypopigmented macule	5921	RASA1	ORPHA:137667
HP:0020073	Hypopigmented macule	23141	ANKLE2	OMIM:616681
HP:0020073	Hypopigmented macule	2176	FANCC	OMIM:227645
HP:0020073	Hypopigmented macule	56983	POGLUT1	ORPHA:79145
HP:0020073	Hypopigmented macule	3852	KRT5	ORPHA:79145
HP:0020073	Hypopigmented macule	23509	POFUT1	ORPHA:79145
HP:0020073	Hypopigmented macule	55851	PSENEN	ORPHA:79145
HP:0020073	Hypopigmented macule	5339	PLEC	ORPHA:79401
HP:0020074	Crystalluria	7372	UMPS	OMIM:258900
HP:0020074	Crystalluria	7372	UMPS	ORPHA:30
HP:0020074	Crystalluria	5631	PRPS1	ORPHA:411543
HP:0020074	Crystalluria	5631	PRPS1	ORPHA:411536
HP:0020074	Crystalluria	353	APRT	OMIM:614723
HP:0020078	Alaninuria	7381	UQCRB	OMIM:615158
HP:0020078	Alaninuria	51601	LIPT1	OMIM:616299
HP:0020079	Beta-alaninuria	4329	ALDH6A1	OMIM:614105
HP:0030291	Lower-limb metaphyseal irregularity	59341	TRPV4	OMIM:113500
HP:0030291	Lower-limb metaphyseal irregularity	79848	CSPP1	ORPHA:397715
HP:0030291	Lower-limb metaphyseal irregularity	9786	KIAA0586	ORPHA:397715
HP:0030291	Lower-limb metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0030291	Lower-limb metaphyseal irregularity	755	CFAP410	OMIM:602271
HP:0030291	Lower-limb metaphyseal irregularity	51119	SBDS	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	134218	DNAJC21	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	6729	SRP54	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	6137	RPL13	OMIM:618728
HP:0030291	Lower-limb metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030292	Tibial metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030293	Fibular metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030294	Metaphyseal chondromatosis of tibia	3417	IDH1	ORPHA:99646
HP:0030295	Metaphyseal chondromatosis of femur	3417	IDH1	ORPHA:99646
HP:0030296	Metaphyseal chondromatosis of radius	3417	IDH1	ORPHA:99646
HP:0030297	Metaphyseal chondromatosis of ulna	3417	IDH1	ORPHA:99646
HP:0030299	Distal femoral metaphyseal abnormality	51025	PAM16	OMIM:613320
HP:0030299	Distal femoral metaphyseal abnormality	2146	EZH2	OMIM:277590
HP:0030299	Distal femoral metaphyseal abnormality	649	BMP1	OMIM:614856
HP:0030299	Distal femoral metaphyseal abnormality	26040	SETBP1	OMIM:269150
HP:0030299	Distal femoral metaphyseal abnormality	1300	COL10A1	ORPHA:174
HP:0030290	Unossified sacrum	1280	COL2A1	ORPHA:93296
HP:0030290	Unossified sacrum	168667	BMPER	OMIM:608022
HP:0020080	Erythrocyte inclusion bodies	80324	PUS1	OMIM:600462
HP:0020080	Erythrocyte inclusion bodies	8573	CASK	OMIM:300908
HP:0020080	Erythrocyte inclusion bodies	2539	G6PD	OMIM:300908
HP:0020080	Erythrocyte inclusion bodies	3040	HBA2	OMIM:140700
HP:0020080	Erythrocyte inclusion bodies	3043	HBB	OMIM:140700
HP:0020080	Erythrocyte inclusion bodies	3039	HBA1	OMIM:140700
HP:0020080	Erythrocyte inclusion bodies	2876	GPX1	OMIM:614164
HP:0020080	Erythrocyte inclusion bodies	8772	FADD	OMIM:613759
HP:0020080	Erythrocyte inclusion bodies	3921	RPSA	OMIM:271400
HP:0020080	Erythrocyte inclusion bodies	6786	STIM1	OMIM:185070
HP:0020081	Pappenheimer bodies	80324	PUS1	OMIM:600462
HP:0020082	Heinz bodies	8573	CASK	OMIM:300908
HP:0020082	Heinz bodies	2539	G6PD	OMIM:300908
HP:0020082	Heinz bodies	3040	HBA2	OMIM:140700
HP:0020082	Heinz bodies	3043	HBB	OMIM:140700
HP:0020082	Heinz bodies	3039	HBA1	OMIM:140700
HP:0020082	Heinz bodies	2876	GPX1	OMIM:614164
HP:0020083	Furuncle	10625	IVNS1ABP	OMIM:618969
HP:0020085	Infection following live vaccination	84876	ORAI1	OMIM:612782
HP:0020085	Infection following live vaccination	3394	IRF8	OMIM:614893
HP:0020085	Infection following live vaccination	3394	IRF8	OMIM:226990
HP:0020085	Infection following live vaccination	84888	SPPL2A	OMIM:619549
HP:0020085	Infection following live vaccination	2214	FCGR3A	OMIM:615707
HP:0020085	Infection following live vaccination	64421	DCLRE1C	OMIM:602450
HP:0020085	Infection following live vaccination	6772	STAT1	OMIM:614892
HP:0020085	Infection following live vaccination	3593	IL12B	OMIM:614890
HP:0020085	Infection following live vaccination	6097	RORC	OMIM:616622
HP:0020085	Infection following live vaccination	3458	IFNG	OMIM:618963
HP:0020085	Infection following live vaccination	1536	CYBB	OMIM:300645
HP:0020085	Infection following live vaccination	30009	TBX21	OMIM:619630
HP:0020085	Infection following live vaccination	5966	REL	OMIM:619652
HP:0020085	Infection following live vaccination	3594	IL12RB1	ORPHA:319552
HP:0020085	Infection following live vaccination	57169	ZNFX1	OMIM:619644
HP:0020085	Infection following live vaccination	3454	IFNAR1	OMIM:619935
HP:0020085	Infection following live vaccination	6773	STAT2	OMIM:616636
HP:0020085	Infection following live vaccination	3455	IFNAR2	OMIM:616669
HP:0020085	Infection following live vaccination	6929	TCF3	OMIM:616941
HP:0020085	Infection following live vaccination	11151	CORO1A	OMIM:615401
HP:0020086	BCGitis	84876	ORAI1	OMIM:612782
HP:0020086	BCGitis	3394	IRF8	OMIM:614893
HP:0020086	BCGitis	3394	IRF8	OMIM:226990
HP:0020086	BCGitis	84888	SPPL2A	OMIM:619549
HP:0020086	BCGitis	2214	FCGR3A	OMIM:615707
HP:0020086	BCGitis	64421	DCLRE1C	OMIM:602450
HP:0020086	BCGitis	6772	STAT1	OMIM:614892
HP:0020086	BCGitis	3593	IL12B	OMIM:614890
HP:0020088	Post-vaccination measles	3454	IFNAR1	OMIM:619935
HP:0020088	Post-vaccination measles	6773	STAT2	OMIM:616636
HP:0020088	Post-vaccination measles	3455	IFNAR2	OMIM:616669
HP:0020090	Post-vaccination polio	6929	TCF3	OMIM:616941
HP:0020096	Recurrent streptococcal infections	3426	CFI	OMIM:610984
HP:0020096	Recurrent streptococcal infections	51135	IRAK4	ORPHA:70592
HP:0020096	Recurrent streptococcal infections	1130	LYST	ORPHA:167
HP:0020096	Recurrent streptococcal infections	3514	IGKC	ORPHA:183675
HP:0020096	Recurrent streptococcal infections	3501	IGHG2	ORPHA:183675
HP:0001900	Increased hemoglobin	669	BPGM	OMIM:222800
HP:0001900	Increased hemoglobin	3717	JAK2	OMIM:133100
HP:0001900	Increased hemoglobin	3717	JAK2	OMIM:263300
HP:0001900	Increased hemoglobin	10019	SH2B3	OMIM:133100
HP:0001900	Increased hemoglobin	2057	EPOR	OMIM:133100
HP:0001900	Increased hemoglobin	2034	EPAS1	OMIM:611783
HP:0001900	Increased hemoglobin	2056	EPO	OMIM:617907
HP:0001900	Increased hemoglobin	7428	VHL	OMIM:263400
HP:0001900	Increased hemoglobin	54583	EGLN1	OMIM:609820
HP:0001900	Increased hemoglobin	3040	HBA2	OMIM:617981
HP:0001900	Increased hemoglobin	3039	HBA1	OMIM:617981
HP:0001900	Increased hemoglobin	3043	HBB	OMIM:617980
HP:0001902	Giant platelets	2815	GP9	OMIM:231200
HP:0001902	Giant platelets	2815	GP9	ORPHA:274
HP:0001902	Giant platelets	2811	GP1BA	OMIM:231200
HP:0001902	Giant platelets	2811	GP1BA	ORPHA:274
HP:0001902	Giant platelets	2812	GP1BB	OMIM:231200
HP:0001902	Giant platelets	2812	GP1BB	ORPHA:274
HP:0001902	Giant platelets	3674	ITGA2B	OMIM:187800
HP:0001902	Giant platelets	10559	SLC35A1	ORPHA:238459
HP:0001902	Giant platelets	3930	LBR	OMIM:169400
HP:0001902	Giant platelets	4627	MYH9	OMIM:155100
HP:0001902	Giant platelets	4627	MYH9	ORPHA:182050
HP:0001902	Giant platelets	948	CD36	OMIM:608404
HP:0001902	Giant platelets	9382	COG1	OMIM:611209
HP:0001902	Giant platelets	64241	ABCG8	OMIM:210250
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5896	RAG1	ORPHA:231154
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	2215	FCGR3B	ORPHA:464370
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	355	FAS	ORPHA:3261
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	355	FAS	OMIM:601859
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	356	FASLG	ORPHA:3261
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	356	FASLG	OMIM:601859
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5580	PRKCD	ORPHA:3261
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	843	CASP10	ORPHA:3261
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	843	CASP10	OMIM:603909
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	10125	RASGRP1	ORPHA:3261
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5994	RFXAP	ORPHA:572
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4261	CIITA	ORPHA:572
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5993	RFX5	ORPHA:572
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	8625	RFXANK	ORPHA:572
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6772	STAT1	ORPHA:391487
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	10043	TOM1	ORPHA:391487
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	7174	TPP2	OMIM:619220
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6774	STAT3	OMIM:615952
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	50943	FOXP3	ORPHA:37042
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4860	PNP	OMIM:613179
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5238	PGM3	ORPHA:443811
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5294	PIK3CG	OMIM:619802
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	54440	SASH3	OMIM:301082
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	83737	ITCH	ORPHA:228426
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	29851	ICOS	OMIM:607594
HP:0001905	Congenital thrombocytopenia	6773	STAT2	OMIM:618886
HP:0001905	Congenital thrombocytopenia	4627	MYH9	ORPHA:182050
HP:0001905	Congenital thrombocytopenia	7454	WAS	OMIM:313900
HP:0001905	Congenital thrombocytopenia	2122	MECOM	OMIM:616738
HP:0001905	Congenital thrombocytopenia	2623	GATA1	OMIM:300367
HP:0001905	Congenital thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0001907	Thromboembolism	3784	KCNQ1	OMIM:607554
HP:0001907	Thromboembolism	51816	ADA2	ORPHA:820
HP:0001907	Thromboembolism	2161	F12	ORPHA:330
HP:0001907	Thromboembolism	3717	JAK2	OMIM:263300
HP:0001907	Thromboembolism	2162	F13A1	OMIM:188050
HP:0001907	Thromboembolism	2147	F2	OMIM:188050
HP:0001907	Thromboembolism	3026	HABP2	OMIM:188050
HP:0001907	Thromboembolism	4524	MTHFR	OMIM:188050
HP:0001907	Thromboembolism	6331	SCN5A	ORPHA:1344
HP:0001907	Thromboembolism	4878	NPPA	ORPHA:1344
HP:0001907	Thromboembolism	4519	MT-CYB	ORPHA:137675
HP:0001907	Thromboembolism	25974	MMACHC	ORPHA:79282
HP:0001907	Thromboembolism	25974	MMACHC	OMIM:277400
HP:0001907	Thromboembolism	875	CBS	OMIM:236200
HP:0001907	Thromboembolism	2057	EPOR	ORPHA:90042
HP:0001907	Thromboembolism	84665	MYPN	ORPHA:75249
HP:0001907	Thromboembolism	2318	FLNC	ORPHA:75249
HP:0001907	Thromboembolism	7139	TNNT2	ORPHA:75249
HP:0001907	Thromboembolism	7137	TNNI3	ORPHA:75249
HP:0001907	Thromboembolism	10112	KIF20A	ORPHA:75249
HP:0001907	Thromboembolism	9103	FCGR2C	ORPHA:3002
HP:0001907	Thromboembolism	6521	SLC4A1	ORPHA:3202
HP:0001907	Thromboembolism	9780	PIEZO1	ORPHA:3202
HP:0001907	Thromboembolism	3783	KCNN4	ORPHA:3202
HP:0001907	Thromboembolism	5277	PIGA	ORPHA:447
HP:0001907	Thromboembolism	7317	UBA1	OMIM:301054
HP:0001907	Thromboembolism	3777	KCNK3	OMIM:615344
HP:0001907	Thromboembolism	7276	TTR	ORPHA:85451
HP:0001907	Thromboembolism	4552	MTRR	ORPHA:2169
HP:0001907	Thromboembolism	5573	PRKAR1A	ORPHA:615
HP:0001907	Thromboembolism	5573	PRKAR1A	ORPHA:1359
HP:0001907	Thromboembolism	10370	CITED2	ORPHA:99105
HP:0001907	Thromboembolism	5052	PRDX1	OMIM:277400
HP:0001907	Thromboembolism	7092	TLL1	ORPHA:99106
HP:0001907	Thromboembolism	50940	PDE11A	ORPHA:1359
HP:0001907	Thromboembolism	3273	HRG	OMIM:613116
HP:0001907	Thromboembolism	462	SERPINC1	ORPHA:82
HP:0001907	Thromboembolism	4625	MYH7	OMIM:613426
HP:0001908	Hypoplastic anemia	219285	SAMD9L	OMIM:159550
HP:0001908	Hypoplastic anemia	219285	SAMD9L	ORPHA:2585
HP:0001908	Hypoplastic anemia	6023	RMRP	OMIM:250250
HP:0001908	Hypoplastic anemia	9663	LPIN2	ORPHA:77297
HP:0001908	Hypoplastic anemia	374879	ZNF699	OMIM:619488
HP:0001908	Hypoplastic anemia	9493	KIF23	OMIM:105600
HP:0001908	Hypoplastic anemia	6223	RPS19	OMIM:105650
HP:0001908	Hypoplastic anemia	4598	MVK	OMIM:610377
HP:0001912	Abnormal basophil morphology	613	BCR	ORPHA:521
HP:0001912	Abnormal basophil morphology	25	ABL1	ORPHA:521
HP:0001912	Abnormal basophil morphology	861	RUNX1	ORPHA:521
HP:0001912	Abnormal basophil morphology	171023	ASXL1	ORPHA:98849
HP:0001912	Abnormal basophil morphology	54790	TET2	ORPHA:98849
HP:0001912	Abnormal basophil morphology	3815	KIT	ORPHA:98849
HP:0001912	Abnormal basophil morphology	6427	SRSF2	ORPHA:98849
HP:0001912	Abnormal basophil morphology	60468	BACH2	OMIM:618394
HP:0001913	Granulocytopenia	201294	UNC13D	OMIM:608898
HP:0001913	Granulocytopenia	6901	TAFAZZIN	OMIM:302060
HP:0001913	Granulocytopenia	54790	TET2	ORPHA:75564
HP:0001913	Granulocytopenia	23451	SF3B1	ORPHA:75564
HP:0001913	Granulocytopenia	6234	RPS28	OMIM:606164
HP:0001913	Granulocytopenia	1991	ELANE	OMIM:202700
HP:0001913	Granulocytopenia	204	AK2	OMIM:267500
HP:0001913	Granulocytopenia	51311	TLR8	OMIM:301078
HP:0001915	Aplastic anemia	26277	TINF2	OMIM:268130
HP:0001915	Aplastic anemia	26277	TINF2	OMIM:613990
HP:0001915	Aplastic anemia	26277	TINF2	OMIM:127550
HP:0001915	Aplastic anemia	134218	DNAJC21	OMIM:617052
HP:0001915	Aplastic anemia	134218	DNAJC21	ORPHA:811
HP:0001915	Aplastic anemia	2187	FANCB	OMIM:300514
HP:0001915	Aplastic anemia	331	XIAP	OMIM:300635
HP:0001915	Aplastic anemia	331	XIAP	OMIM:308240
HP:0001915	Aplastic anemia	55651	NHP2	OMIM:224230
HP:0001915	Aplastic anemia	55505	NOP10	OMIM:224230
HP:0001915	Aplastic anemia	7015	TERT	OMIM:614742
HP:0001915	Aplastic anemia	7015	TERT	OMIM:127550
HP:0001915	Aplastic anemia	7015	TERT	OMIM:613989
HP:0001915	Aplastic anemia	7015	TERT	OMIM:609135
HP:0001915	Aplastic anemia	9401	RECQL4	ORPHA:221016
HP:0001915	Aplastic anemia	7012	TERC	OMIM:614743
HP:0001915	Aplastic anemia	7012	TERC	OMIM:127550
HP:0001915	Aplastic anemia	10312	TCIRG1	ORPHA:486
HP:0001915	Aplastic anemia	1991	ELANE	ORPHA:486
HP:0001915	Aplastic anemia	2672	GFI1	ORPHA:486
HP:0001915	Aplastic anemia	6729	SRP54	ORPHA:486
HP:0001915	Aplastic anemia	6729	SRP54	ORPHA:811
HP:0001915	Aplastic anemia	81570	CLPB	ORPHA:486
HP:0001915	Aplastic anemia	2624	GATA2	OMIM:614172
HP:0001915	Aplastic anemia	65057	ACD	OMIM:616553
HP:0001915	Aplastic anemia	939	CD27	OMIM:615122
HP:0001915	Aplastic anemia	6731	SRP72	OMIM:614675
HP:0001915	Aplastic anemia	79728	PALB2	OMIM:610832
HP:0001915	Aplastic anemia	3207	HOXA11	OMIM:605432
HP:0001915	Aplastic anemia	4068	SH2D1A	OMIM:308240
HP:0001915	Aplastic anemia	4683	NBN	OMIM:609135
HP:0001915	Aplastic anemia	5551	PRF1	OMIM:609135
HP:0001915	Aplastic anemia	51119	SBDS	OMIM:609135
HP:0001915	Aplastic anemia	51119	SBDS	ORPHA:811
HP:0001915	Aplastic anemia	3458	IFNG	OMIM:609135
HP:0001915	Aplastic anemia	79631	EFL1	ORPHA:811
HP:0001915	Aplastic anemia	64682	ANAPC1	ORPHA:221008
HP:0001917	Renal amyloidosis	114548	NLRP3	ORPHA:575
HP:0001917	Renal amyloidosis	114548	NLRP3	OMIM:191900
HP:0001917	Renal amyloidosis	114548	NLRP3	OMIM:120100
HP:0001917	Renal amyloidosis	4312	MMP1	ORPHA:79408
HP:0001917	Renal amyloidosis	1294	COL7A1	ORPHA:79408
HP:0001917	Renal amyloidosis	9056	SLC7A7	ORPHA:470
HP:0001917	Renal amyloidosis	4210	MEFV	OMIM:249100
HP:0001917	Renal amyloidosis	4210	MEFV	OMIM:134610
HP:0001917	Renal amyloidosis	567	B2M	ORPHA:314652
HP:0001917	Renal amyloidosis	6288	SAA1	ORPHA:85445
HP:0001919	Acute kidney injury	7809	BSND	ORPHA:89938
HP:0001919	Acute kidney injury	1188	CLCNKB	ORPHA:89938
HP:0001919	Acute kidney injury	1187	CLCNKA	ORPHA:89938
HP:0001919	Acute kidney injury	3939	LDHA	ORPHA:284426
HP:0001919	Acute kidney injury	116085	SLC22A12	OMIM:220150
HP:0001919	Acute kidney injury	116085	SLC22A12	ORPHA:94088
HP:0001919	Acute kidney injury	595	CCND1	ORPHA:29073
HP:0001919	Acute kidney injury	5631	PRPS1	ORPHA:411543
HP:0001919	Acute kidney injury	5631	PRPS1	ORPHA:411536
HP:0001919	Acute kidney injury	2321	FLT1	ORPHA:275555
HP:0001919	Acute kidney injury	219736	STOX1	ORPHA:275555
HP:0001919	Acute kidney injury	10699	CORIN	ORPHA:275555
HP:0001919	Acute kidney injury	4179	CD46	OMIM:612922
HP:0001919	Acute kidney injury	4179	CD46	ORPHA:244242
HP:0001919	Acute kidney injury	629	CFB	OMIM:612924
HP:0001919	Acute kidney injury	6261	RYR1	ORPHA:466650
HP:0001919	Acute kidney injury	6261	RYR1	ORPHA:423
HP:0001919	Acute kidney injury	56606	SLC2A9	ORPHA:94088
HP:0001919	Acute kidney injury	3426	CFI	OMIM:612923
HP:0001919	Acute kidney injury	3426	CFI	ORPHA:244242
HP:0001919	Acute kidney injury	6928	HNF1B	ORPHA:93111
HP:0001919	Acute kidney injury	7056	THBD	OMIM:612926
HP:0001919	Acute kidney injury	779	CACNA1S	ORPHA:423
HP:0001919	Acute kidney injury	718	C3	OMIM:612925
HP:0001919	Acute kidney injury	23175	LPIN1	OMIM:268200
HP:0001919	Acute kidney injury	23175	LPIN1	ORPHA:99845
HP:0001919	Acute kidney injury	6288	SAA1	ORPHA:85445
HP:0001919	Acute kidney injury	3075	CFH	ORPHA:244242
HP:0001919	Acute kidney injury	3075	CFH	OMIM:235400
HP:0001919	Acute kidney injury	101101692	HELLPAR	ORPHA:244242
HP:0001919	Acute kidney injury	8526	DGKE	OMIM:615008
HP:0001919	Acute kidney injury	4512	MT-CO1	ORPHA:99845
HP:0001919	Acute kidney injury	4514	MT-CO3	ORPHA:99845
HP:0001919	Acute kidney injury	6948	TCN2	ORPHA:859
HP:0001919	Acute kidney injury	199221	DZIP1L	ORPHA:731
HP:0001919	Acute kidney injury	5314	PKHD1	ORPHA:731
HP:0001919	Acute kidney injury	353	APRT	ORPHA:976
HP:0001919	Acute kidney injury	6773	STAT2	OMIM:618886
HP:0001919	Acute kidney injury	5837	PYGM	ORPHA:368
HP:0001919	Acute kidney injury	5277	PIGA	ORPHA:447
HP:0001919	Acute kidney injury	226	ALDOA	ORPHA:57
HP:0001919	Acute kidney injury	9742	IFT140	OMIM:266920
HP:0001919	Acute kidney injury	10861	SLC26A1	OMIM:167030
HP:0001919	Acute kidney injury	3251	HPRT1	ORPHA:79233
HP:0001919	Acute kidney injury	3078	CFHR1	OMIM:235400
HP:0001919	Acute kidney injury	10878	CFHR3	OMIM:235400
HP:0001920	Renal artery stenosis	3949	LDLR	ORPHA:391665
HP:0001920	Renal artery stenosis	255738	PCSK9	ORPHA:391665
HP:0001920	Renal artery stenosis	26119	LDLRAP1	ORPHA:391665
HP:0001920	Renal artery stenosis	338	APOB	ORPHA:391665
HP:0001920	Renal artery stenosis	64240	ABCG5	ORPHA:391665
HP:0001920	Renal artery stenosis	64241	ABCG8	ORPHA:391665
HP:0001920	Renal artery stenosis	55249	YY1AP1	OMIM:602531
HP:0001920	Renal artery stenosis	4763	NF1	OMIM:162200
HP:0001920	Renal artery stenosis	4763	NF1	ORPHA:97685
HP:0001920	Renal artery stenosis	6772	STAT1	ORPHA:391487
HP:0001920	Renal artery stenosis	10043	TOM1	ORPHA:391487
HP:0001920	Renal artery stenosis	9896	FIG4	ORPHA:3472
HP:0001920	Renal artery stenosis	55697	VAC14	ORPHA:3472
HP:0001920	Renal artery stenosis	5167	ENPP1	OMIM:208000
HP:0001920	Renal artery stenosis	55654	TMEM127	OMIM:171300
HP:0001920	Renal artery stenosis	5979	RET	OMIM:171300
HP:0001920	Renal artery stenosis	6390	SDHB	OMIM:171300
HP:0001920	Renal artery stenosis	6392	SDHD	OMIM:171300
HP:0001920	Renal artery stenosis	4149	MAX	OMIM:171300
HP:0001920	Renal artery stenosis	7428	VHL	OMIM:171300
HP:0001920	Renal artery stenosis	50628	GEMIN4	OMIM:617913
HP:0001920	Renal artery stenosis	182	JAG1	OMIM:118450
HP:0001920	Renal artery stenosis	51085	MLXIPL	OMIM:194050
HP:0001920	Renal artery stenosis	2006	ELN	OMIM:194050
HP:0001920	Renal artery stenosis	5456	POU3F4	ORPHA:1435
HP:0000840	Adrenogenital syndrome	1589	CYP21A2	OMIM:201910
HP:0000840	Adrenogenital syndrome	6770	STAR	OMIM:201710
HP:0000840	Adrenogenital syndrome	1584	CYP11B1	OMIM:103900
HP:0000840	Adrenogenital syndrome	1584	CYP11B1	OMIM:202010
HP:0000840	Adrenogenital syndrome	1586	CYP17A1	OMIM:202110
HP:0001923	Reticulocytosis	3043	HBB	ORPHA:232
HP:0001923	Reticulocytosis	3043	HBB	ORPHA:251380
HP:0001923	Reticulocytosis	355	FAS	ORPHA:3261
HP:0001923	Reticulocytosis	356	FASLG	ORPHA:3261
HP:0001923	Reticulocytosis	5580	PRKCD	ORPHA:3261
HP:0001923	Reticulocytosis	843	CASP10	ORPHA:3261
HP:0001923	Reticulocytosis	10125	RASGRP1	ORPHA:3261
HP:0001923	Reticulocytosis	6521	SLC4A1	OMIM:185020
HP:0001923	Reticulocytosis	6521	SLC4A1	OMIM:611590
HP:0001923	Reticulocytosis	6521	SLC4A1	ORPHA:822
HP:0001923	Reticulocytosis	6521	SLC4A1	OMIM:612653
HP:0001923	Reticulocytosis	6521	SLC4A1	ORPHA:3202
HP:0001923	Reticulocytosis	3783	KCNN4	OMIM:616689
HP:0001923	Reticulocytosis	3783	KCNN4	ORPHA:3202
HP:0001923	Reticulocytosis	8573	CASK	OMIM:300908
HP:0001923	Reticulocytosis	2539	G6PD	OMIM:300908
HP:0001923	Reticulocytosis	84529	CDIN1	OMIM:615631
HP:0001923	Reticulocytosis	6710	SPTB	OMIM:616649
HP:0001923	Reticulocytosis	6710	SPTB	ORPHA:822
HP:0001923	Reticulocytosis	6710	SPTB	ORPHA:288
HP:0001923	Reticulocytosis	6513	SLC2A1	OMIM:612126
HP:0001923	Reticulocytosis	2623	GATA1	OMIM:301083
HP:0001923	Reticulocytosis	2623	GATA1	OMIM:314050
HP:0001923	Reticulocytosis	2623	GATA1	ORPHA:79277
HP:0001923	Reticulocytosis	3048	HBG2	OMIM:613977
HP:0001923	Reticulocytosis	3048	HBG2	ORPHA:251380
HP:0001923	Reticulocytosis	10058	ABCB6	ORPHA:90044
HP:0001923	Reticulocytosis	9780	PIEZO1	OMIM:194380
HP:0001923	Reticulocytosis	9780	PIEZO1	ORPHA:3202
HP:0001923	Reticulocytosis	286	ANK1	OMIM:182900
HP:0001923	Reticulocytosis	286	ANK1	ORPHA:822
HP:0001923	Reticulocytosis	2038	EPB42	ORPHA:822
HP:0001923	Reticulocytosis	2038	EPB42	OMIM:612690
HP:0001923	Reticulocytosis	6708	SPTA1	ORPHA:822
HP:0001923	Reticulocytosis	6708	SPTA1	OMIM:130600
HP:0001923	Reticulocytosis	6708	SPTA1	ORPHA:288
HP:0001923	Reticulocytosis	53335	BCL11A	ORPHA:251380
HP:0001923	Reticulocytosis	10661	KLF1	ORPHA:251380
HP:0001923	Reticulocytosis	10661	KLF1	OMIM:613673
HP:0001923	Reticulocytosis	3047	HBG1	ORPHA:251380
HP:0001923	Reticulocytosis	10483	SEC23B	OMIM:224100
HP:0001923	Reticulocytosis	374354	NHLRC2	OMIM:618278
HP:0001923	Reticulocytosis	3098	HK1	OMIM:235700
HP:0001923	Reticulocytosis	11093	ADAMTS13	OMIM:274150
HP:0001923	Reticulocytosis	2729	GCLC	ORPHA:33574
HP:0001923	Reticulocytosis	8029	CUBN	ORPHA:35858
HP:0001923	Reticulocytosis	81693	AMN	ORPHA:35858
HP:0001923	Reticulocytosis	6005	RHAG	OMIM:185000
HP:0001923	Reticulocytosis	6005	RHAG	ORPHA:3203
HP:0001923	Reticulocytosis	6005	RHAG	ORPHA:71275
HP:0001923	Reticulocytosis	5230	PGK1	OMIM:300653
HP:0001923	Reticulocytosis	5230	PGK1	ORPHA:713
HP:0001923	Reticulocytosis	1186	CLCN7	OMIM:611490
HP:0001923	Reticulocytosis	5213	PFKM	OMIM:232800
HP:0001923	Reticulocytosis	64241	ABCG8	OMIM:210250
HP:0001923	Reticulocytosis	5313	PKLR	ORPHA:766
HP:0001923	Reticulocytosis	5313	PKLR	OMIM:266200
HP:0001923	Reticulocytosis	5277	PIGA	ORPHA:447
HP:0001923	Reticulocytosis	2035	EPB41	ORPHA:288
HP:0001923	Reticulocytosis	2995	GYPC	ORPHA:288
HP:0001923	Reticulocytosis	4547	MTTP	ORPHA:14
HP:0001923	Reticulocytosis	1371	CPOX	OMIM:618892
HP:0001923	Reticulocytosis	146059	CDAN1	OMIM:224120
HP:0001923	Reticulocytosis	7390	UROS	ORPHA:79277
HP:0001923	Reticulocytosis	3075	CFH	OMIM:235400
HP:0001923	Reticulocytosis	3078	CFHR1	OMIM:235400
HP:0001923	Reticulocytosis	10878	CFHR3	OMIM:235400
HP:0001923	Reticulocytosis	6006	RHCE	ORPHA:71275
HP:0001923	Reticulocytosis	6007	RHD	ORPHA:71275
HP:0003256	Abnormality of the coagulation cascade	29929	ALG6	OMIM:603147
HP:0003256	Abnormality of the coagulation cascade	29929	ALG6	ORPHA:79320
HP:0003256	Abnormality of the coagulation cascade	4351	MPI	ORPHA:79319
HP:0003256	Abnormality of the coagulation cascade	4351	MPI	OMIM:602579
HP:0003256	Abnormality of the coagulation cascade	8216	LZTR1	OMIM:616564
HP:0003256	Abnormality of the coagulation cascade	85365	ALG2	OMIM:607906
HP:0003256	Abnormality of the coagulation cascade	2160	F11	ORPHA:329
HP:0003256	Abnormality of the coagulation cascade	2160	F11	OMIM:612416
HP:0003256	Abnormality of the coagulation cascade	79053	ALG8	OMIM:608104
HP:0003256	Abnormality of the coagulation cascade	79053	ALG8	ORPHA:79325
HP:0003256	Abnormality of the coagulation cascade	6654	SOS1	OMIM:610733
HP:0003256	Abnormality of the coagulation cascade	55768	NGLY1	ORPHA:404454
HP:0003256	Abnormality of the coagulation cascade	79087	ALG12	ORPHA:79324
HP:0003256	Abnormality of the coagulation cascade	79644	SRD5A3	ORPHA:324737
HP:0003256	Abnormality of the coagulation cascade	79644	SRD5A3	OMIM:612379
HP:0003256	Abnormality of the coagulation cascade	1798	DPAGT1	ORPHA:86309
HP:0003256	Abnormality of the coagulation cascade	1798	DPAGT1	OMIM:608093
HP:0003256	Abnormality of the coagulation cascade	5236	PGM1	OMIM:614921
HP:0003256	Abnormality of the coagulation cascade	8818	DPM2	ORPHA:329178
HP:0003256	Abnormality of the coagulation cascade	3998	LMAN1	OMIM:227300
HP:0003256	Abnormality of the coagulation cascade	3998	LMAN1	ORPHA:35909
HP:0003256	Abnormality of the coagulation cascade	90411	MCFD2	ORPHA:35909
HP:0003256	Abnormality of the coagulation cascade	90411	MCFD2	OMIM:613625
HP:0003256	Abnormality of the coagulation cascade	25839	COG4	ORPHA:263501
HP:0003256	Abnormality of the coagulation cascade	1650	DDOST	ORPHA:300536
HP:0003256	Abnormality of the coagulation cascade	6748	SSR4	ORPHA:370927
HP:0003256	Abnormality of the coagulation cascade	80270	HSD3B7	OMIM:607765
HP:0003256	Abnormality of the coagulation cascade	51241	COX16	OMIM:619355
HP:0003256	Abnormality of the coagulation cascade	84868	HAVCR2	ORPHA:86884
HP:0003256	Abnormality of the coagulation cascade	6718	AKR1D1	OMIM:235555
HP:0003256	Abnormality of the coagulation cascade	6718	AKR1D1	ORPHA:79303
HP:0003256	Abnormality of the coagulation cascade	51520	LARS1	OMIM:615438
HP:0003256	Abnormality of the coagulation cascade	9526	MPDU1	OMIM:609180
HP:0003256	Abnormality of the coagulation cascade	3117	HLA-DQA1	OMIM:212750
HP:0003256	Abnormality of the coagulation cascade	3119	HLA-DQB1	OMIM:212750
HP:0003256	Abnormality of the coagulation cascade	6261	RYR1	ORPHA:466650
HP:0003256	Abnormality of the coagulation cascade	6261	RYR1	ORPHA:423
HP:0003256	Abnormality of the coagulation cascade	6261	RYR1	OMIM:145600
HP:0003256	Abnormality of the coagulation cascade	779	CACNA1S	ORPHA:423
HP:0003256	Abnormality of the coagulation cascade	229	ALDOB	ORPHA:469
HP:0003256	Abnormality of the coagulation cascade	28962	OSTM1	OMIM:259720
HP:0003256	Abnormality of the coagulation cascade	5551	PRF1	ORPHA:540
HP:0003256	Abnormality of the coagulation cascade	8676	STX11	ORPHA:540
HP:0003256	Abnormality of the coagulation cascade	201294	UNC13D	ORPHA:540
HP:0003256	Abnormality of the coagulation cascade	6813	STXBP2	ORPHA:540
HP:0003256	Abnormality of the coagulation cascade	3028	HSD17B10	ORPHA:391457
HP:0003256	Abnormality of the coagulation cascade	22796	COG2	ORPHA:435934
HP:0003256	Abnormality of the coagulation cascade	2316	FLNA	OMIM:300049
HP:0003256	Abnormality of the coagulation cascade	91869	RFT1	OMIM:612015
HP:0003256	Abnormality of the coagulation cascade	84947	SERAC1	OMIM:614739
HP:0003256	Abnormality of the coagulation cascade	10166	SLC25A15	ORPHA:415
HP:0003256	Abnormality of the coagulation cascade	8328	GFI1B	OMIM:187900
HP:0003256	Abnormality of the coagulation cascade	2542	SLC37A4	OMIM:619525
HP:0003256	Abnormality of the coagulation cascade	2161	F12	ORPHA:330
HP:0003256	Abnormality of the coagulation cascade	2161	F12	OMIM:234000
HP:0003256	Abnormality of the coagulation cascade	4247	MGAT2	OMIM:212066
HP:0003256	Abnormality of the coagulation cascade	5604	MAP2K1	OMIM:163950
HP:0003256	Abnormality of the coagulation cascade	5781	PTPN11	OMIM:163950
HP:0003256	Abnormality of the coagulation cascade	673	BRAF	OMIM:163950
HP:0003256	Abnormality of the coagulation cascade	5627	PROS1	OMIM:614514
HP:0003256	Abnormality of the coagulation cascade	5627	PROS1	OMIM:612336
HP:0003256	Abnormality of the coagulation cascade	3827	KNG1	OMIM:228960
HP:0003256	Abnormality of the coagulation cascade	8813	DPM1	OMIM:608799
HP:0003256	Abnormality of the coagulation cascade	8813	DPM1	ORPHA:79322
HP:0003256	Abnormality of the coagulation cascade	5624	PROC	OMIM:612304
HP:0003256	Abnormality of the coagulation cascade	5624	PROC	OMIM:176860
HP:0003256	Abnormality of the coagulation cascade	2683	B4GALT1	ORPHA:79332
HP:0003256	Abnormality of the coagulation cascade	3155	HMGCL	ORPHA:20
HP:0003256	Abnormality of the coagulation cascade	51594	NBAS	OMIM:616483
HP:0003256	Abnormality of the coagulation cascade	55532	SLC30A10	ORPHA:309854
HP:0003256	Abnormality of the coagulation cascade	132	ADK	OMIM:614300
HP:0003256	Abnormality of the coagulation cascade	5009	OTC	OMIM:311250
HP:0003256	Abnormality of the coagulation cascade	9420	CYP7B1	OMIM:613812
HP:0003256	Abnormality of the coagulation cascade	23600	AMACR	OMIM:214950
HP:0003256	Abnormality of the coagulation cascade	79631	EFL1	OMIM:617941
HP:0003256	Abnormality of the coagulation cascade	3075	CFH	ORPHA:244242
HP:0003256	Abnormality of the coagulation cascade	3426	CFI	ORPHA:244242
HP:0003256	Abnormality of the coagulation cascade	4179	CD46	ORPHA:244242
HP:0003256	Abnormality of the coagulation cascade	101101692	HELLPAR	ORPHA:244242
HP:0003256	Abnormality of the coagulation cascade	10165	SLC25A13	ORPHA:247598
HP:0003256	Abnormality of the coagulation cascade	3033	HADH	ORPHA:71212
HP:0003256	Abnormality of the coagulation cascade	55687	TRMU	OMIM:613070
HP:0003256	Abnormality of the coagulation cascade	60561	RINT1	OMIM:618641
HP:0003256	Abnormality of the coagulation cascade	2153	F5	OMIM:227400
HP:0003256	Abnormality of the coagulation cascade	2859	GPR35	ORPHA:171
HP:0003256	Abnormality of the coagulation cascade	10507	SEMA4D	ORPHA:171
HP:0003256	Abnormality of the coagulation cascade	4485	MST1	ORPHA:171
HP:0003256	Abnormality of the coagulation cascade	6925	TCF4	ORPHA:171
HP:0003256	Abnormality of the coagulation cascade	100131801	PET100	OMIM:619055
HP:0003256	Abnormality of the coagulation cascade	125988	MICOS13	OMIM:618329
HP:0003256	Abnormality of the coagulation cascade	2147	F2	OMIM:613679
HP:0003256	Abnormality of the coagulation cascade	2147	F2	ORPHA:325
HP:0003256	Abnormality of the coagulation cascade	2184	FAH	OMIM:276700
HP:0003256	Abnormality of the coagulation cascade	10020	GNE	ORPHA:3166
HP:0003256	Abnormality of the coagulation cascade	4547	MTTP	ORPHA:14
HP:0003256	Abnormality of the coagulation cascade	81570	CLPB	OMIM:616271
HP:0003256	Abnormality of the coagulation cascade	9971	NR1H4	OMIM:617049
HP:0003256	Abnormality of the coagulation cascade	84342	COG8	ORPHA:95428
HP:0003256	Abnormality of the coagulation cascade	6655	SOS2	OMIM:616559
HP:0003256	Abnormality of the coagulation cascade	28976	ACAD9	ORPHA:99901
HP:0003256	Abnormality of the coagulation cascade	191	AHCY	ORPHA:88618
HP:0003256	Abnormality of the coagulation cascade	2155	F7	OMIM:227500
HP:0003256	Abnormality of the coagulation cascade	2159	F10	OMIM:227600
HP:0003256	Abnormality of the coagulation cascade	2159	F10	ORPHA:328
HP:0003256	Abnormality of the coagulation cascade	196527	ANO6	OMIM:262890
HP:0003256	Abnormality of the coagulation cascade	23545	ATP6V0A2	ORPHA:2834
HP:0003256	Abnormality of the coagulation cascade	23545	ATP6V0A2	ORPHA:357074
HP:0003256	Abnormality of the coagulation cascade	523	ATP6V1A	ORPHA:357074
HP:0003256	Abnormality of the coagulation cascade	529	ATP6V1E1	ORPHA:357074
HP:0003256	Abnormality of the coagulation cascade	9630	GNA14	ORPHA:1063
HP:0003256	Abnormality of the coagulation cascade	2677	GGCX	OMIM:277450
HP:0003256	Abnormality of the coagulation cascade	2677	GGCX	OMIM:610842
HP:0003256	Abnormality of the coagulation cascade	2158	F9	OMIM:306900
HP:0003256	Abnormality of the coagulation cascade	5373	PMM2	ORPHA:79318
HP:0003256	Abnormality of the coagulation cascade	79001	VKORC1	OMIM:607473
HP:0003256	Abnormality of the coagulation cascade	2815	GP9	OMIM:231200
HP:0003256	Abnormality of the coagulation cascade	2815	GP9	ORPHA:274
HP:0003256	Abnormality of the coagulation cascade	2811	GP1BA	OMIM:231200
HP:0003256	Abnormality of the coagulation cascade	2811	GP1BA	OMIM:153670
HP:0003256	Abnormality of the coagulation cascade	2811	GP1BA	ORPHA:274
HP:0003256	Abnormality of the coagulation cascade	2812	GP1BB	OMIM:231200
HP:0003256	Abnormality of the coagulation cascade	2812	GP1BB	ORPHA:274
HP:0003256	Abnormality of the coagulation cascade	3690	ITGB3	OMIM:619271
HP:0003256	Abnormality of the coagulation cascade	3690	ITGB3	ORPHA:849
HP:0003256	Abnormality of the coagulation cascade	3690	ITGB3	OMIM:619267
HP:0003256	Abnormality of the coagulation cascade	3674	ITGA2B	OMIM:273800
HP:0003256	Abnormality of the coagulation cascade	3674	ITGA2B	ORPHA:849
HP:0003256	Abnormality of the coagulation cascade	51206	GP6	OMIM:614201
HP:0003256	Abnormality of the coagulation cascade	64376	IKZF5	OMIM:619130
HP:0003256	Abnormality of the coagulation cascade	3689	ITGB2	OMIM:116920
HP:0003256	Abnormality of the coagulation cascade	9056	SLC7A7	ORPHA:470
HP:0003256	Abnormality of the coagulation cascade	55388	MCM10	OMIM:619313
HP:0003256	Abnormality of the coagulation cascade	331	XIAP	OMIM:300635
HP:0003256	Abnormality of the coagulation cascade	2038	EPB42	ORPHA:822
HP:0003256	Abnormality of the coagulation cascade	6521	SLC4A1	ORPHA:822
HP:0003256	Abnormality of the coagulation cascade	6710	SPTB	ORPHA:822
HP:0003256	Abnormality of the coagulation cascade	6708	SPTA1	ORPHA:822
HP:0003256	Abnormality of the coagulation cascade	286	ANK1	ORPHA:822
HP:0003256	Abnormality of the coagulation cascade	1130	LYST	ORPHA:167
HP:0003256	Abnormality of the coagulation cascade	6774	STAT3	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	5371	PML	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	5914	RARA	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	359948	IRF2BP2	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	81608	FIP1L1	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	4869	NPM1	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	5573	PRKAR1A	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	54880	BCOR	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	64859	NABP1	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	6777	STAT5B	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	4926	NUMA1	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	7704	ZBTB16	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	79718	TBL1XR1	ORPHA:520
HP:0003256	Abnormality of the coagulation cascade	58484	NLRC4	OMIM:616050
HP:0003256	Abnormality of the coagulation cascade	7450	VWF	OMIM:193400
HP:0003256	Abnormality of the coagulation cascade	23218	NBEAL2	OMIM:139090
HP:0003256	Abnormality of the coagulation cascade	2157	F8	OMIM:301071
HP:0003256	Abnormality of the coagulation cascade	175	AGA	OMIM:208400
HP:0003256	Abnormality of the coagulation cascade	8985	PLOD3	OMIM:612394
HP:0003256	Abnormality of the coagulation cascade	2243	FGA	OMIM:202400
HP:0003256	Abnormality of the coagulation cascade	2244	FGB	OMIM:202400
HP:0003256	Abnormality of the coagulation cascade	2266	FGG	OMIM:202400
HP:0003256	Abnormality of the coagulation cascade	462	SERPINC1	OMIM:613118
HP:0003256	Abnormality of the coagulation cascade	3273	HRG	OMIM:613116
HP:0003256	Abnormality of the coagulation cascade	5054	SERPINE1	ORPHA:465
HP:0003256	Abnormality of the coagulation cascade	5340	PLG	OMIM:217090
HP:0003256	Abnormality of the coagulation cascade	5340	PLG	ORPHA:722
HP:0003256	Abnormality of the coagulation cascade	2162	F13A1	OMIM:613225
HP:0003256	Abnormality of the coagulation cascade	2165	F13B	OMIM:613235
HP:0001928	Abnormality of coagulation	2592	GALT	ORPHA:79239
HP:0001928	Abnormality of coagulation	1244	ABCC2	ORPHA:234
HP:0001928	Abnormality of coagulation	6748	SSR4	ORPHA:370927
HP:0001928	Abnormality of coagulation	6748	SSR4	OMIM:300934
HP:0001928	Abnormality of coagulation	8036	SHOC2	OMIM:607721
HP:0001928	Abnormality of coagulation	65082	VPS33A	ORPHA:505248
HP:0001928	Abnormality of coagulation	5745	PTH1R	ORPHA:296
HP:0001928	Abnormality of coagulation	3418	IDH2	ORPHA:296
HP:0001928	Abnormality of coagulation	3417	IDH1	ORPHA:296
HP:0001928	Abnormality of coagulation	54914	FOCAD	OMIM:619991
HP:0001928	Abnormality of coagulation	55532	SLC30A10	ORPHA:309854
HP:0001928	Abnormality of coagulation	91869	RFT1	ORPHA:244310
HP:0001928	Abnormality of coagulation	22800	RRAS2	ORPHA:648
HP:0001928	Abnormality of coagulation	867	CBL	ORPHA:648
HP:0001928	Abnormality of coagulation	6016	RIT1	ORPHA:648
HP:0001928	Abnormality of coagulation	6237	RRAS	ORPHA:648
HP:0001928	Abnormality of coagulation	5894	RAF1	ORPHA:648
HP:0001928	Abnormality of coagulation	22808	MRAS	ORPHA:648
HP:0001928	Abnormality of coagulation	3845	KRAS	ORPHA:648
HP:0001928	Abnormality of coagulation	200734	SPRED2	ORPHA:648
HP:0001928	Abnormality of coagulation	4893	NRAS	ORPHA:648
HP:0001928	Abnormality of coagulation	6655	SOS2	ORPHA:648
HP:0001928	Abnormality of coagulation	5922	RASA2	ORPHA:648
HP:0001928	Abnormality of coagulation	9939	RBM8A	ORPHA:3320
HP:0001928	Abnormality of coagulation	51750	RTEL1	ORPHA:3322
HP:0001928	Abnormality of coagulation	51750	RTEL1	ORPHA:1775
HP:0001928	Abnormality of coagulation	65057	ACD	ORPHA:3322
HP:0001928	Abnormality of coagulation	5073	PARN	ORPHA:3322
HP:0001928	Abnormality of coagulation	5073	PARN	ORPHA:1775
HP:0001928	Abnormality of coagulation	7015	TERT	ORPHA:3322
HP:0001928	Abnormality of coagulation	7015	TERT	ORPHA:1775
HP:0001928	Abnormality of coagulation	26277	TINF2	ORPHA:3322
HP:0001928	Abnormality of coagulation	26277	TINF2	ORPHA:1775
HP:0001928	Abnormality of coagulation	1736	DKC1	ORPHA:3322
HP:0001928	Abnormality of coagulation	1736	DKC1	ORPHA:1775
HP:0001928	Abnormality of coagulation	80270	HSD3B7	ORPHA:79301
HP:0001928	Abnormality of coagulation	1130	LYST	ORPHA:352723
HP:0001928	Abnormality of coagulation	84876	ORAI1	ORPHA:3204
HP:0001928	Abnormality of coagulation	6786	STIM1	ORPHA:3204
HP:0001928	Abnormality of coagulation	79644	SRD5A3	ORPHA:324737
HP:0001928	Abnormality of coagulation	191	AHCY	ORPHA:88618
HP:0001928	Abnormality of coagulation	7386	UQCRFS1	OMIM:618775
HP:0001928	Abnormality of coagulation	80169	CTC1	ORPHA:1775
HP:0001928	Abnormality of coagulation	55651	NHP2	ORPHA:1775
HP:0001928	Abnormality of coagulation	79650	USB1	ORPHA:1775
HP:0001928	Abnormality of coagulation	55135	WRAP53	ORPHA:1775
HP:0001928	Abnormality of coagulation	4869	NPM1	ORPHA:1775
HP:0001928	Abnormality of coagulation	7012	TERC	ORPHA:1775
HP:0001928	Abnormality of coagulation	55505	NOP10	ORPHA:1775
HP:0001928	Abnormality of coagulation	7298	TYMS	ORPHA:1775
HP:0001928	Abnormality of coagulation	7010	TEK	ORPHA:1059
HP:0001928	Abnormality of coagulation	55670	PEX26	ORPHA:912
HP:0001928	Abnormality of coagulation	5824	PEX19	ORPHA:912
HP:0001928	Abnormality of coagulation	5828	PEX2	ORPHA:912
HP:0001928	Abnormality of coagulation	8504	PEX3	ORPHA:912
HP:0001928	Abnormality of coagulation	8799	PEX11B	ORPHA:912
HP:0001928	Abnormality of coagulation	9409	PEX16	ORPHA:912
HP:0001928	Abnormality of coagulation	5190	PEX6	ORPHA:912
HP:0001928	Abnormality of coagulation	5830	PEX5	ORPHA:912
HP:0001928	Abnormality of coagulation	5189	PEX1	ORPHA:912
HP:0001928	Abnormality of coagulation	5193	PEX12	ORPHA:912
HP:0001928	Abnormality of coagulation	5194	PEX13	ORPHA:912
HP:0001928	Abnormality of coagulation	5195	PEX14	ORPHA:912
HP:0001928	Abnormality of coagulation	5192	PEX10	ORPHA:912
HP:0001928	Abnormality of coagulation	29929	ALG6	OMIM:603147
HP:0001928	Abnormality of coagulation	29929	ALG6	ORPHA:79320
HP:0001928	Abnormality of coagulation	4351	MPI	ORPHA:79319
HP:0001928	Abnormality of coagulation	4351	MPI	OMIM:602579
HP:0001928	Abnormality of coagulation	8216	LZTR1	OMIM:616564
HP:0001928	Abnormality of coagulation	85365	ALG2	OMIM:607906
HP:0001928	Abnormality of coagulation	2160	F11	ORPHA:329
HP:0001928	Abnormality of coagulation	2160	F11	OMIM:612416
HP:0001928	Abnormality of coagulation	79053	ALG8	OMIM:608104
HP:0001928	Abnormality of coagulation	79053	ALG8	ORPHA:79325
HP:0001928	Abnormality of coagulation	6654	SOS1	OMIM:610733
HP:0001928	Abnormality of coagulation	55768	NGLY1	ORPHA:404454
HP:0001928	Abnormality of coagulation	79087	ALG12	ORPHA:79324
HP:0001928	Abnormality of coagulation	1798	DPAGT1	ORPHA:86309
HP:0001928	Abnormality of coagulation	1798	DPAGT1	OMIM:608093
HP:0001928	Abnormality of coagulation	5236	PGM1	OMIM:614921
HP:0001928	Abnormality of coagulation	8818	DPM2	ORPHA:329178
HP:0001928	Abnormality of coagulation	3998	LMAN1	OMIM:227300
HP:0001928	Abnormality of coagulation	3998	LMAN1	ORPHA:35909
HP:0001928	Abnormality of coagulation	90411	MCFD2	ORPHA:35909
HP:0001928	Abnormality of coagulation	90411	MCFD2	OMIM:613625
HP:0001928	Abnormality of coagulation	25839	COG4	ORPHA:263501
HP:0001928	Abnormality of coagulation	1650	DDOST	ORPHA:300536
HP:0001928	Abnormality of coagulation	51241	COX16	OMIM:619355
HP:0001928	Abnormality of coagulation	84868	HAVCR2	ORPHA:86884
HP:0001928	Abnormality of coagulation	6718	AKR1D1	OMIM:235555
HP:0001928	Abnormality of coagulation	6718	AKR1D1	ORPHA:79303
HP:0001928	Abnormality of coagulation	51520	LARS1	OMIM:615438
HP:0001928	Abnormality of coagulation	9526	MPDU1	OMIM:609180
HP:0001928	Abnormality of coagulation	3117	HLA-DQA1	OMIM:212750
HP:0001928	Abnormality of coagulation	3119	HLA-DQB1	OMIM:212750
HP:0001928	Abnormality of coagulation	6261	RYR1	ORPHA:466650
HP:0001928	Abnormality of coagulation	6261	RYR1	ORPHA:423
HP:0001928	Abnormality of coagulation	6261	RYR1	OMIM:145600
HP:0001928	Abnormality of coagulation	779	CACNA1S	ORPHA:423
HP:0001928	Abnormality of coagulation	229	ALDOB	ORPHA:469
HP:0001928	Abnormality of coagulation	28962	OSTM1	OMIM:259720
HP:0001928	Abnormality of coagulation	5551	PRF1	ORPHA:540
HP:0001928	Abnormality of coagulation	8676	STX11	ORPHA:540
HP:0001928	Abnormality of coagulation	201294	UNC13D	ORPHA:540
HP:0001928	Abnormality of coagulation	6813	STXBP2	ORPHA:540
HP:0001928	Abnormality of coagulation	3028	HSD17B10	ORPHA:391457
HP:0001928	Abnormality of coagulation	22796	COG2	ORPHA:435934
HP:0001928	Abnormality of coagulation	2316	FLNA	OMIM:300049
HP:0001928	Abnormality of coagulation	84947	SERAC1	OMIM:614739
HP:0001928	Abnormality of coagulation	10166	SLC25A15	ORPHA:415
HP:0001928	Abnormality of coagulation	8328	GFI1B	OMIM:187900
HP:0001928	Abnormality of coagulation	10128	LRPPRC	OMIM:220111
HP:0001928	Abnormality of coagulation	2627	GATA6	ORPHA:2255
HP:0001928	Abnormality of coagulation	79868	ALG13	OMIM:300884
HP:0001928	Abnormality of coagulation	3818	KLKB1	OMIM:612423
HP:0001928	Abnormality of coagulation	5825	ABCD3	OMIM:616278
HP:0001928	Abnormality of coagulation	8985	PLOD3	OMIM:612394
HP:0001928	Abnormality of coagulation	26276	VPS33B	OMIM:620010
HP:0001928	Abnormality of coagulation	2542	SLC37A4	OMIM:619525
HP:0001928	Abnormality of coagulation	2161	F12	ORPHA:330
HP:0001928	Abnormality of coagulation	2161	F12	OMIM:234000
HP:0001928	Abnormality of coagulation	4247	MGAT2	OMIM:212066
HP:0001928	Abnormality of coagulation	5604	MAP2K1	OMIM:163950
HP:0001928	Abnormality of coagulation	5781	PTPN11	OMIM:163950
HP:0001928	Abnormality of coagulation	673	BRAF	OMIM:163950
HP:0001928	Abnormality of coagulation	3827	KNG1	OMIM:228960
HP:0001928	Abnormality of coagulation	8813	DPM1	OMIM:608799
HP:0001928	Abnormality of coagulation	8813	DPM1	ORPHA:79322
HP:0001928	Abnormality of coagulation	2683	B4GALT1	ORPHA:79332
HP:0001928	Abnormality of coagulation	3155	HMGCL	ORPHA:20
HP:0001928	Abnormality of coagulation	51594	NBAS	OMIM:616483
HP:0001928	Abnormality of coagulation	132	ADK	OMIM:614300
HP:0001928	Abnormality of coagulation	5009	OTC	OMIM:311250
HP:0001928	Abnormality of coagulation	9420	CYP7B1	OMIM:613812
HP:0001928	Abnormality of coagulation	23600	AMACR	OMIM:214950
HP:0001928	Abnormality of coagulation	79631	EFL1	OMIM:617941
HP:0001928	Abnormality of coagulation	3075	CFH	ORPHA:244242
HP:0001928	Abnormality of coagulation	3426	CFI	ORPHA:244242
HP:0001928	Abnormality of coagulation	4179	CD46	ORPHA:244242
HP:0001928	Abnormality of coagulation	101101692	HELLPAR	ORPHA:244242
HP:0001928	Abnormality of coagulation	10165	SLC25A13	ORPHA:247598
HP:0001928	Abnormality of coagulation	3033	HADH	ORPHA:71212
HP:0001928	Abnormality of coagulation	55687	TRMU	OMIM:613070
HP:0001928	Abnormality of coagulation	60561	RINT1	OMIM:618641
HP:0001928	Abnormality of coagulation	2859	GPR35	ORPHA:171
HP:0001928	Abnormality of coagulation	10507	SEMA4D	ORPHA:171
HP:0001928	Abnormality of coagulation	4485	MST1	ORPHA:171
HP:0001928	Abnormality of coagulation	6925	TCF4	ORPHA:171
HP:0001928	Abnormality of coagulation	100131801	PET100	OMIM:619055
HP:0001928	Abnormality of coagulation	125988	MICOS13	OMIM:618329
HP:0001928	Abnormality of coagulation	2147	F2	OMIM:613679
HP:0001928	Abnormality of coagulation	2147	F2	ORPHA:325
HP:0001928	Abnormality of coagulation	2184	FAH	OMIM:276700
HP:0001928	Abnormality of coagulation	10020	GNE	ORPHA:3166
HP:0001928	Abnormality of coagulation	4547	MTTP	ORPHA:14
HP:0001928	Abnormality of coagulation	81570	CLPB	OMIM:616271
HP:0001928	Abnormality of coagulation	9971	NR1H4	OMIM:617049
HP:0001928	Abnormality of coagulation	84342	COG8	ORPHA:95428
HP:0001928	Abnormality of coagulation	28976	ACAD9	ORPHA:99901
HP:0001928	Abnormality of coagulation	2155	F7	OMIM:227500
HP:0001928	Abnormality of coagulation	2159	F10	OMIM:227600
HP:0001928	Abnormality of coagulation	2159	F10	ORPHA:328
HP:0001928	Abnormality of coagulation	196527	ANO6	OMIM:262890
HP:0001928	Abnormality of coagulation	23545	ATP6V0A2	ORPHA:2834
HP:0001928	Abnormality of coagulation	23545	ATP6V0A2	ORPHA:357074
HP:0001928	Abnormality of coagulation	523	ATP6V1A	ORPHA:357074
HP:0001928	Abnormality of coagulation	529	ATP6V1E1	ORPHA:357074
HP:0001928	Abnormality of coagulation	9630	GNA14	ORPHA:1063
HP:0001928	Abnormality of coagulation	2677	GGCX	OMIM:277450
HP:0001928	Abnormality of coagulation	2677	GGCX	OMIM:610842
HP:0001928	Abnormality of coagulation	2158	F9	OMIM:306900
HP:0001928	Abnormality of coagulation	5373	PMM2	ORPHA:79318
HP:0001928	Abnormality of coagulation	79001	VKORC1	OMIM:607473
HP:0001928	Abnormality of coagulation	2815	GP9	OMIM:231200
HP:0001928	Abnormality of coagulation	2815	GP9	ORPHA:274
HP:0001928	Abnormality of coagulation	2811	GP1BA	OMIM:231200
HP:0001928	Abnormality of coagulation	2811	GP1BA	OMIM:153670
HP:0001928	Abnormality of coagulation	2811	GP1BA	ORPHA:274
HP:0001928	Abnormality of coagulation	2812	GP1BB	OMIM:231200
HP:0001928	Abnormality of coagulation	2812	GP1BB	ORPHA:274
HP:0001928	Abnormality of coagulation	3690	ITGB3	OMIM:619271
HP:0001928	Abnormality of coagulation	3690	ITGB3	ORPHA:849
HP:0001928	Abnormality of coagulation	3690	ITGB3	OMIM:619267
HP:0001928	Abnormality of coagulation	3674	ITGA2B	OMIM:273800
HP:0001928	Abnormality of coagulation	3674	ITGA2B	ORPHA:849
HP:0001928	Abnormality of coagulation	51206	GP6	OMIM:614201
HP:0001928	Abnormality of coagulation	64376	IKZF5	OMIM:619130
HP:0001928	Abnormality of coagulation	3689	ITGB2	OMIM:116920
HP:0001928	Abnormality of coagulation	9056	SLC7A7	ORPHA:470
HP:0001928	Abnormality of coagulation	55388	MCM10	OMIM:619313
HP:0001928	Abnormality of coagulation	331	XIAP	OMIM:300635
HP:0001928	Abnormality of coagulation	6774	STAT3	ORPHA:520
HP:0001928	Abnormality of coagulation	5371	PML	ORPHA:520
HP:0001928	Abnormality of coagulation	5914	RARA	ORPHA:520
HP:0001928	Abnormality of coagulation	359948	IRF2BP2	ORPHA:520
HP:0001928	Abnormality of coagulation	81608	FIP1L1	ORPHA:520
HP:0001928	Abnormality of coagulation	5573	PRKAR1A	ORPHA:520
HP:0001928	Abnormality of coagulation	54880	BCOR	ORPHA:520
HP:0001928	Abnormality of coagulation	64859	NABP1	ORPHA:520
HP:0001928	Abnormality of coagulation	6777	STAT5B	ORPHA:520
HP:0001928	Abnormality of coagulation	4926	NUMA1	ORPHA:520
HP:0001928	Abnormality of coagulation	7704	ZBTB16	ORPHA:520
HP:0001928	Abnormality of coagulation	79718	TBL1XR1	ORPHA:520
HP:0001928	Abnormality of coagulation	58484	NLRC4	OMIM:616050
HP:0001928	Abnormality of coagulation	7450	VWF	OMIM:193400
HP:0001928	Abnormality of coagulation	23218	NBEAL2	OMIM:139090
HP:0001928	Abnormality of coagulation	2157	F8	OMIM:301071
HP:0001928	Abnormality of coagulation	175	AGA	OMIM:208400
HP:0001928	Abnormality of coagulation	6773	STAT2	OMIM:618886
HP:0001928	Abnormality of coagulation	2243	FGA	OMIM:202400
HP:0001928	Abnormality of coagulation	2244	FGB	OMIM:202400
HP:0001928	Abnormality of coagulation	2266	FGG	OMIM:202400
HP:0001928	Abnormality of coagulation	462	SERPINC1	OMIM:613118
HP:0001928	Abnormality of coagulation	5054	SERPINE1	ORPHA:465
HP:0001928	Abnormality of coagulation	5340	PLG	OMIM:217090
HP:0001928	Abnormality of coagulation	5340	PLG	ORPHA:722
HP:0001928	Abnormality of coagulation	2162	F13A1	OMIM:613225
HP:0001928	Abnormality of coagulation	2165	F13B	OMIM:613235
HP:0001928	Abnormality of coagulation	5345	SERPINF2	ORPHA:79
HP:0001928	Abnormality of coagulation	4615	MYD88	ORPHA:33226
HP:0001928	Abnormality of coagulation	3043	HBB	ORPHA:231222
HP:0001928	Abnormality of coagulation	2153	F5	OMIM:188055
HP:0001928	Abnormality of coagulation	1738	DLD	ORPHA:2394
HP:0001928	Abnormality of coagulation	7056	THBD	OMIM:614486
HP:0001928	Abnormality of coagulation	5627	PROS1	OMIM:614514
HP:0001928	Abnormality of coagulation	5627	PROS1	OMIM:612336
HP:0001928	Abnormality of coagulation	3273	HRG	OMIM:613116
HP:0001928	Abnormality of coagulation	5624	PROC	OMIM:612304
HP:0001928	Abnormality of coagulation	5624	PROC	OMIM:176860
HP:0001928	Abnormality of coagulation	55109	AGGF1	ORPHA:90308
HP:0001928	Abnormality of coagulation	2038	EPB42	ORPHA:822
HP:0001928	Abnormality of coagulation	6521	SLC4A1	ORPHA:822
HP:0001928	Abnormality of coagulation	6710	SPTB	ORPHA:822
HP:0001928	Abnormality of coagulation	6708	SPTA1	ORPHA:822
HP:0001928	Abnormality of coagulation	286	ANK1	ORPHA:822
HP:0001928	Abnormality of coagulation	2624	GATA2	ORPHA:3226
HP:0001929	Reduced factor XI activity	29929	ALG6	OMIM:603147
HP:0001929	Reduced factor XI activity	29929	ALG6	ORPHA:79320
HP:0001929	Reduced factor XI activity	4247	MGAT2	ORPHA:79329
HP:0001929	Reduced factor XI activity	4247	MGAT2	OMIM:212066
HP:0001929	Reduced factor XI activity	5373	PMM2	ORPHA:79318
HP:0001929	Reduced factor XI activity	5373	PMM2	OMIM:212065
HP:0001929	Reduced factor XI activity	4351	MPI	ORPHA:79319
HP:0001929	Reduced factor XI activity	4351	MPI	OMIM:602579
HP:0001929	Reduced factor XI activity	8216	LZTR1	OMIM:616564
HP:0001929	Reduced factor XI activity	85365	ALG2	OMIM:607906
HP:0001929	Reduced factor XI activity	2542	SLC37A4	OMIM:619525
HP:0001929	Reduced factor XI activity	2160	F11	ORPHA:329
HP:0001929	Reduced factor XI activity	2160	F11	OMIM:612416
HP:0001929	Reduced factor XI activity	79053	ALG8	OMIM:608104
HP:0001929	Reduced factor XI activity	79053	ALG8	ORPHA:79325
HP:0001929	Reduced factor XI activity	6654	SOS1	OMIM:610733
HP:0001929	Reduced factor XI activity	55768	NGLY1	ORPHA:404454
HP:0001929	Reduced factor XI activity	79087	ALG12	ORPHA:79324
HP:0001930	Nonspherocytic hemolytic anemia	3098	HK1	OMIM:235700
HP:0001930	Nonspherocytic hemolytic anemia	226	ALDOA	OMIM:611881
HP:0001930	Nonspherocytic hemolytic anemia	3040	HBA2	OMIM:140700
HP:0001930	Nonspherocytic hemolytic anemia	3043	HBB	OMIM:140700
HP:0001930	Nonspherocytic hemolytic anemia	3039	HBA1	OMIM:140700
HP:0001930	Nonspherocytic hemolytic anemia	6521	SLC4A1	ORPHA:3202
HP:0001930	Nonspherocytic hemolytic anemia	9780	PIEZO1	ORPHA:3202
HP:0001930	Nonspherocytic hemolytic anemia	3783	KCNN4	ORPHA:3202
HP:0001930	Nonspherocytic hemolytic anemia	2821	GPI	OMIM:613470
HP:0001931	Hypochromic anemia	3043	HBB	ORPHA:232
HP:0001931	Hypochromic anemia	7454	WAS	OMIM:301000
HP:0001931	Hypochromic anemia	8074	FGF23	ORPHA:89937
HP:0001931	Hypochromic anemia	324	APC	ORPHA:261584
HP:0001931	Hypochromic anemia	2590	GALNT2	OMIM:618885
HP:0001931	Hypochromic anemia	212	ALAS2	OMIM:300752
HP:0001931	Hypochromic anemia	85365	ALG2	OMIM:607906
HP:0001931	Hypochromic anemia	8260	NAA10	OMIM:300855
HP:0001931	Hypochromic anemia	2335	FN1	ORPHA:93315
HP:0001931	Hypochromic anemia	1280	COL2A1	ORPHA:93315
HP:0001931	Hypochromic anemia	50943	FOXP3	ORPHA:37042
HP:0001931	Hypochromic anemia	3753	KCNE1	ORPHA:90647
HP:0001931	Hypochromic anemia	3784	KCNQ1	ORPHA:90647
HP:0001931	Hypochromic anemia	6794	STK11	OMIM:175200
HP:0001931	Hypochromic anemia	3117	HLA-DQA1	OMIM:212750
HP:0001931	Hypochromic anemia	3119	HLA-DQB1	OMIM:212750
HP:0001931	Hypochromic anemia	9451	EIF2AK3	ORPHA:1667
HP:0001931	Hypochromic anemia	2000	ELF4	OMIM:301074
HP:0001931	Hypochromic anemia	1616	DAXX	ORPHA:100075
HP:0001931	Hypochromic anemia	546	ATRX	ORPHA:100075
HP:0001931	Hypochromic anemia	4312	MMP1	ORPHA:79408
HP:0001931	Hypochromic anemia	1294	COL7A1	ORPHA:79408
HP:0001931	Hypochromic anemia	1604	CD55	OMIM:226300
HP:0001931	Hypochromic anemia	374879	ZNF699	OMIM:619488
HP:0001931	Hypochromic anemia	10845	CLPX	OMIM:618015
HP:0001931	Hypochromic anemia	5825	ABCD3	OMIM:616278
HP:0001931	Hypochromic anemia	5321	PLA2G4A	OMIM:618372
HP:0001931	Hypochromic anemia	355	FAS	OMIM:601859
HP:0001931	Hypochromic anemia	356	FASLG	OMIM:601859
HP:0001931	Hypochromic anemia	843	CASP10	OMIM:603909
HP:0001931	Hypochromic anemia	1188	CLCNKB	ORPHA:358
HP:0001931	Hypochromic anemia	6559	SLC12A3	ORPHA:358
HP:0001931	Hypochromic anemia	80324	PUS1	OMIM:600462
HP:0001931	Hypochromic anemia	63916	ELMO2	OMIM:606893
HP:0001931	Hypochromic anemia	7040	TGFB1	OMIM:618213
HP:0001931	Hypochromic anemia	2623	GATA1	ORPHA:67044
HP:0001931	Hypochromic anemia	7018	TF	OMIM:209300
HP:0001931	Hypochromic anemia	54790	TET2	ORPHA:75564
HP:0001931	Hypochromic anemia	23451	SF3B1	ORPHA:75564
HP:0001931	Hypochromic anemia	3658	IREB2	OMIM:618451
HP:0001931	Hypochromic anemia	10265	IRX5	OMIM:611174
HP:0001931	Hypochromic anemia	9663	LPIN2	ORPHA:77297
HP:0001931	Hypochromic anemia	29775	CARD10	OMIM:619632
HP:0001931	Hypochromic anemia	51095	TRNT1	OMIM:616084
HP:0001931	Hypochromic anemia	131118	DNAJC19	ORPHA:66634
HP:0001931	Hypochromic anemia	3040	HBA2	OMIM:604131
HP:0001931	Hypochromic anemia	3039	HBA1	OMIM:604131
HP:0001931	Hypochromic anemia	53335	BCL11A	ORPHA:251380
HP:0001931	Hypochromic anemia	10661	KLF1	ORPHA:251380
HP:0001931	Hypochromic anemia	3047	HBG1	ORPHA:251380
HP:0001931	Hypochromic anemia	3048	HBG2	ORPHA:251380
HP:0001931	Hypochromic anemia	28962	OSTM1	OMIM:259720
HP:0001931	Hypochromic anemia	22	ABCB7	OMIM:301310
HP:0001931	Hypochromic anemia	3735	KARS1	OMIM:619147
HP:0001931	Hypochromic anemia	205327	C2orf69	OMIM:619423
HP:0001931	Hypochromic anemia	150274	HSCB	OMIM:619523
HP:0001931	Hypochromic anemia	164656	TMPRSS6	OMIM:206200
HP:0001931	Hypochromic anemia	1356	CP	ORPHA:48818
HP:0001931	Hypochromic anemia	23729	SHPK	ORPHA:440713
HP:0001931	Hypochromic anemia	6901	TAFAZZIN	OMIM:302060
HP:0001933	Subcutaneous hemorrhage	54809	SAMD9	OMIM:617053
HP:0001933	Subcutaneous hemorrhage	83706	FERMT3	OMIM:612840
HP:0001933	Subcutaneous hemorrhage	23474	ETHE1	OMIM:602473
HP:0001933	Subcutaneous hemorrhage	23474	ETHE1	ORPHA:51188
HP:0001933	Subcutaneous hemorrhage	5184	PEPD	OMIM:170100
HP:0001933	Subcutaneous hemorrhage	100506658	OCLN	OMIM:251290
HP:0001933	Subcutaneous hemorrhage	2533	FYB1	OMIM:273900
HP:0001933	Subcutaneous hemorrhage	348	APOE	ORPHA:158029
HP:0001933	Subcutaneous hemorrhage	3937	LCP2	OMIM:619374
HP:0001933	Subcutaneous hemorrhage	11274	USP18	OMIM:617397
HP:0001933	Subcutaneous hemorrhage	4668	NAGA	OMIM:609242
HP:0001933	Subcutaneous hemorrhage	64858	DCLRE1B	OMIM:620133
HP:0001933	Subcutaneous hemorrhage	5873	RAB27A	ORPHA:79477
HP:0001933	Subcutaneous hemorrhage	4758	NEU1	ORPHA:93400
HP:0001933	Subcutaneous hemorrhage	4088	SMAD3	ORPHA:284984
HP:0001933	Subcutaneous hemorrhage	4088	SMAD3	OMIM:613795
HP:0001933	Subcutaneous hemorrhage	4088	SMAD3	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	355	FAS	ORPHA:3261
HP:0001933	Subcutaneous hemorrhage	356	FASLG	ORPHA:3261
HP:0001933	Subcutaneous hemorrhage	843	CASP10	ORPHA:3261
HP:0001933	Subcutaneous hemorrhage	10125	RASGRP1	ORPHA:3261
HP:0001933	Subcutaneous hemorrhage	2243	FGA	OMIM:202400
HP:0001933	Subcutaneous hemorrhage	2244	FGB	OMIM:202400
HP:0001933	Subcutaneous hemorrhage	2266	FGG	OMIM:202400
HP:0001933	Subcutaneous hemorrhage	5351	PLOD1	OMIM:225400
HP:0001933	Subcutaneous hemorrhage	5351	PLOD1	ORPHA:1900
HP:0001933	Subcutaneous hemorrhage	7148	TNXB	ORPHA:230839
HP:0001933	Subcutaneous hemorrhage	7148	TNXB	OMIM:606408
HP:0001933	Subcutaneous hemorrhage	2778	GNAS	OMIM:219080
HP:0001933	Subcutaneous hemorrhage	2778	GNAS	ORPHA:189427
HP:0001933	Subcutaneous hemorrhage	10312	TCIRG1	ORPHA:667
HP:0001933	Subcutaneous hemorrhage	1186	CLCN7	ORPHA:667
HP:0001933	Subcutaneous hemorrhage	29887	SNX10	ORPHA:667
HP:0001933	Subcutaneous hemorrhage	8600	TNFSF11	ORPHA:667
HP:0001933	Subcutaneous hemorrhage	54453	RIN2	ORPHA:217335
HP:0001933	Subcutaneous hemorrhage	54453	RIN2	OMIM:613075
HP:0001933	Subcutaneous hemorrhage	1278	COL1A2	ORPHA:230851
HP:0001933	Subcutaneous hemorrhage	1278	COL1A2	OMIM:617821
HP:0001933	Subcutaneous hemorrhage	1278	COL1A2	OMIM:225320
HP:0001933	Subcutaneous hemorrhage	1278	COL1A2	OMIM:619120
HP:0001933	Subcutaneous hemorrhage	2623	GATA1	OMIM:300367
HP:0001933	Subcutaneous hemorrhage	2623	GATA1	OMIM:314050
HP:0001933	Subcutaneous hemorrhage	2175	FANCA	OMIM:227650
HP:0001933	Subcutaneous hemorrhage	2120	ETV6	OMIM:616216
HP:0001933	Subcutaneous hemorrhage	50940	PDE11A	OMIM:610475
HP:0001933	Subcutaneous hemorrhage	50940	PDE11A	ORPHA:1359
HP:0001933	Subcutaneous hemorrhage	50940	PDE11A	ORPHA:189439
HP:0001933	Subcutaneous hemorrhage	55033	FKBP14	OMIM:614557
HP:0001933	Subcutaneous hemorrhage	55033	FKBP14	ORPHA:300179
HP:0001933	Subcutaneous hemorrhage	10235	RASGRP2	OMIM:615888
HP:0001933	Subcutaneous hemorrhage	1130	LYST	OMIM:214500
HP:0001933	Subcutaneous hemorrhage	1130	LYST	ORPHA:167
HP:0001933	Subcutaneous hemorrhage	1130	LYST	ORPHA:352723
HP:0001933	Subcutaneous hemorrhage	7132	TNFRSF1A	ORPHA:32960
HP:0001933	Subcutaneous hemorrhage	2542	SLC37A4	ORPHA:79259
HP:0001933	Subcutaneous hemorrhage	23218	NBEAL2	OMIM:139090
HP:0001933	Subcutaneous hemorrhage	23218	NBEAL2	ORPHA:721
HP:0001933	Subcutaneous hemorrhage	63915	BLOC1S5	OMIM:619172
HP:0001933	Subcutaneous hemorrhage	3039	HBA1	ORPHA:98791
HP:0001933	Subcutaneous hemorrhage	3040	HBA2	ORPHA:98791
HP:0001933	Subcutaneous hemorrhage	165	AEBP1	OMIM:618000
HP:0001933	Subcutaneous hemorrhage	165	AEBP1	ORPHA:536532
HP:0001933	Subcutaneous hemorrhage	5831	PYCR1	OMIM:612940
HP:0001933	Subcutaneous hemorrhage	90993	CREB3L1	OMIM:616229
HP:0001933	Subcutaneous hemorrhage	2155	F7	ORPHA:327
HP:0001933	Subcutaneous hemorrhage	2155	F7	OMIM:227500
HP:0001933	Subcutaneous hemorrhage	861	RUNX1	OMIM:601399
HP:0001933	Subcutaneous hemorrhage	4627	MYH9	OMIM:155100
HP:0001933	Subcutaneous hemorrhage	4627	MYH9	ORPHA:182050
HP:0001933	Subcutaneous hemorrhage	4784	NFIX	ORPHA:561
HP:0001933	Subcutaneous hemorrhage	22852	ANKRD26	OMIM:188000
HP:0001933	Subcutaneous hemorrhage	9509	ADAMTS2	OMIM:225410
HP:0001933	Subcutaneous hemorrhage	2178	FANCE	OMIM:600901
HP:0001933	Subcutaneous hemorrhage	5339	PLEC	OMIM:131950
HP:0001933	Subcutaneous hemorrhage	11107	PRDM5	OMIM:614170
HP:0001933	Subcutaneous hemorrhage	11107	PRDM5	ORPHA:90354
HP:0001933	Subcutaneous hemorrhage	633	BGN	OMIM:300989
HP:0001933	Subcutaneous hemorrhage	4507	MTAP	OMIM:112250
HP:0001933	Subcutaneous hemorrhage	8985	PLOD3	OMIM:612394
HP:0001933	Subcutaneous hemorrhage	5328	PLAU	OMIM:601709
HP:0001933	Subcutaneous hemorrhage	342618	SLFN14	OMIM:616913
HP:0001933	Subcutaneous hemorrhage	200734	SPRED2	OMIM:619745
HP:0001933	Subcutaneous hemorrhage	2200	FBN1	OMIM:616914
HP:0001933	Subcutaneous hemorrhage	2200	FBN1	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	2316	FLNA	ORPHA:75497
HP:0001933	Subcutaneous hemorrhage	716	C1S	OMIM:617174
HP:0001933	Subcutaneous hemorrhage	10526	IPO8	OMIM:619472
HP:0001933	Subcutaneous hemorrhage	10526	IPO8	ORPHA:60030
HP:0001933	Subcutaneous hemorrhage	5566	PRKACA	OMIM:615830
HP:0001933	Subcutaneous hemorrhage	5566	PRKACA	ORPHA:189439
HP:0001933	Subcutaneous hemorrhage	8622	PDE8B	ORPHA:189439
HP:0001933	Subcutaneous hemorrhage	540	ATP7B	ORPHA:905
HP:0001933	Subcutaneous hemorrhage	3845	KRAS	OMIM:609942
HP:0001933	Subcutaneous hemorrhage	2624	GATA2	ORPHA:3226
HP:0001933	Subcutaneous hemorrhage	5345	SERPINF2	ORPHA:79
HP:0001933	Subcutaneous hemorrhage	5345	SERPINF2	OMIM:262850
HP:0001933	Subcutaneous hemorrhage	715	C1R	OMIM:130080
HP:0001933	Subcutaneous hemorrhage	89781	HPS4	OMIM:614073
HP:0001933	Subcutaneous hemorrhage	11234	HPS5	OMIM:614074
HP:0001933	Subcutaneous hemorrhage	2934	GSN	ORPHA:85448
HP:0001933	Subcutaneous hemorrhage	84343	HPS3	OMIM:614072
HP:0001933	Subcutaneous hemorrhage	388552	BLOC1S3	OMIM:614077
HP:0001933	Subcutaneous hemorrhage	5594	MAPK1	OMIM:619087
HP:0001933	Subcutaneous hemorrhage	3998	LMAN1	ORPHA:35909
HP:0001933	Subcutaneous hemorrhage	90411	MCFD2	ORPHA:35909
HP:0001933	Subcutaneous hemorrhage	200931	SLC51A	OMIM:619484
HP:0001933	Subcutaneous hemorrhage	84062	DTNBP1	OMIM:614076
HP:0001933	Subcutaneous hemorrhage	79798	ARMC5	ORPHA:189427
HP:0001933	Subcutaneous hemorrhage	84627	ZNF469	ORPHA:90354
HP:0001933	Subcutaneous hemorrhage	23387	SIK3	OMIM:618162
HP:0001933	Subcutaneous hemorrhage	126792	B3GALT6	ORPHA:536467
HP:0001933	Subcutaneous hemorrhage	11117	EMILIN1	OMIM:620080
HP:0001933	Subcutaneous hemorrhage	2177	FANCD2	OMIM:227646
HP:0001933	Subcutaneous hemorrhage	2176	FANCC	OMIM:227645
HP:0001933	Subcutaneous hemorrhage	81031	SLC2A10	OMIM:208050
HP:0001933	Subcutaneous hemorrhage	60681	FKBP10	OMIM:610968
HP:0001933	Subcutaneous hemorrhage	4914	NTRK1	ORPHA:642
HP:0001933	Subcutaneous hemorrhage	91252	SLC39A13	ORPHA:157965
HP:0001933	Subcutaneous hemorrhage	91252	SLC39A13	OMIM:612350
HP:0001933	Subcutaneous hemorrhage	7043	TGFB3	OMIM:615582
HP:0001933	Subcutaneous hemorrhage	7043	TGFB3	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	7046	TGFBR1	ORPHA:60030
HP:0001933	Subcutaneous hemorrhage	7046	TGFBR1	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	7048	TGFBR2	ORPHA:60030
HP:0001933	Subcutaneous hemorrhage	7048	TGFBR2	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	5167	ENPP1	ORPHA:758
HP:0001933	Subcutaneous hemorrhage	368	ABCC6	ORPHA:758
HP:0001933	Subcutaneous hemorrhage	7042	TGFB2	OMIM:614816
HP:0001933	Subcutaneous hemorrhage	7042	TGFB2	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	6654	SOS1	OMIM:610733
HP:0001933	Subcutaneous hemorrhage	4629	MYH11	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	4015	LOX	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	4087	SMAD2	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	59	ACTA2	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	5592	PRKG1	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	2301	FOXE3	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	4144	MAT2A	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	23493	HEY2	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	8076	MFAP5	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	4638	MYLK	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	2006	ELN	ORPHA:91387
HP:0001933	Subcutaneous hemorrhage	5604	MAP2K1	OMIM:163950
HP:0001933	Subcutaneous hemorrhage	5781	PTPN11	OMIM:163950
HP:0001933	Subcutaneous hemorrhage	950	SCARB2	ORPHA:77259
HP:0001933	Subcutaneous hemorrhage	3674	ITGA2B	OMIM:273800
HP:0001933	Subcutaneous hemorrhage	3674	ITGA2B	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	3674	ITGA2B	ORPHA:849
HP:0001933	Subcutaneous hemorrhage	7454	WAS	OMIM:301000
HP:0001933	Subcutaneous hemorrhage	7454	WAS	ORPHA:906
HP:0001933	Subcutaneous hemorrhage	7450	VWF	OMIM:193400
HP:0001933	Subcutaneous hemorrhage	720	C4A	OMIM:614380
HP:0001933	Subcutaneous hemorrhage	975	CD81	OMIM:613496
HP:0001933	Subcutaneous hemorrhage	975	CD81	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	3717	JAK2	OMIM:254450
HP:0001933	Subcutaneous hemorrhage	3717	JAK2	ORPHA:824
HP:0001933	Subcutaneous hemorrhage	10019	SH2B3	OMIM:254450
HP:0001933	Subcutaneous hemorrhage	811	CALR	OMIM:254450
HP:0001933	Subcutaneous hemorrhage	811	CALR	ORPHA:824
HP:0001933	Subcutaneous hemorrhage	4352	MPL	OMIM:254450
HP:0001933	Subcutaneous hemorrhage	4352	MPL	ORPHA:824
HP:0001933	Subcutaneous hemorrhage	7456	WIPF1	ORPHA:906
HP:0001933	Subcutaneous hemorrhage	54790	TET2	ORPHA:824
HP:0001933	Subcutaneous hemorrhage	1493	CTLA4	ORPHA:900
HP:0001933	Subcutaneous hemorrhage	26191	PTPN22	ORPHA:900
HP:0001933	Subcutaneous hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0001933	Subcutaneous hemorrhage	5657	PRTN3	ORPHA:900
HP:0001933	Subcutaneous hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0001933	Subcutaneous hemorrhage	5627	PROS1	ORPHA:743
HP:0001933	Subcutaneous hemorrhage	5627	PROS1	OMIM:614514
HP:0001933	Subcutaneous hemorrhage	5627	PROS1	OMIM:612336
HP:0001933	Subcutaneous hemorrhage	2629	GBA1	OMIM:608013
HP:0001933	Subcutaneous hemorrhage	7036	TFR2	OMIM:604250
HP:0001933	Subcutaneous hemorrhage	5624	PROC	ORPHA:745
HP:0001933	Subcutaneous hemorrhage	5624	PROC	OMIM:612304
HP:0001933	Subcutaneous hemorrhage	4598	MVK	ORPHA:343
HP:0001933	Subcutaneous hemorrhage	5551	PRF1	ORPHA:540
HP:0001933	Subcutaneous hemorrhage	8676	STX11	ORPHA:540
HP:0001933	Subcutaneous hemorrhage	201294	UNC13D	ORPHA:540
HP:0001933	Subcutaneous hemorrhage	6813	STXBP2	ORPHA:540
HP:0001933	Subcutaneous hemorrhage	2157	F8	OMIM:306700
HP:0001933	Subcutaneous hemorrhage	11277	TREX1	OMIM:225750
HP:0001933	Subcutaneous hemorrhage	51816	ADA2	OMIM:615688
HP:0001933	Subcutaneous hemorrhage	2811	GP1BA	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	2811	GP1BA	OMIM:231200
HP:0001933	Subcutaneous hemorrhage	2812	GP1BB	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	2812	GP1BB	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	2812	GP1BB	OMIM:231200
HP:0001933	Subcutaneous hemorrhage	3673	ITGA2	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	135228	CD109	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	3690	ITGB3	ORPHA:853
HP:0001933	Subcutaneous hemorrhage	3690	ITGB3	ORPHA:849
HP:0001933	Subcutaneous hemorrhage	2767	GNA11	ORPHA:1556
HP:0001933	Subcutaneous hemorrhage	151188	ARL6IP6	ORPHA:1556
HP:0001933	Subcutaneous hemorrhage	84196	USP48	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	7157	TP53	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	9101	USP8	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	9101	USP8	OMIM:219090
HP:0001933	Subcutaneous hemorrhage	64072	CDH23	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	2908	NR3C1	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	673	BRAF	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	546	ATRX	ORPHA:96253
HP:0001933	Subcutaneous hemorrhage	54	ACP5	OMIM:607944
HP:0001933	Subcutaneous hemorrhage	9630	GNA14	ORPHA:1063
HP:0001933	Subcutaneous hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0001933	Subcutaneous hemorrhage	1312	COMT	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	221037	JMJD1C	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	6239	RREB1	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	6899	TBX1	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	7290	HIRA	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	9632	SEC24C	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	7353	UFD1	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	421	ARVCF	ORPHA:567
HP:0001933	Subcutaneous hemorrhage	84876	ORAI1	ORPHA:3204
HP:0001933	Subcutaneous hemorrhage	6786	STIM1	ORPHA:3204
HP:0001933	Subcutaneous hemorrhage	717	C2	OMIM:217000
HP:0001933	Subcutaneous hemorrhage	6774	STAT3	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	5371	PML	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	5914	RARA	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	359948	IRF2BP2	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	359948	IRF2BP2	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	81608	FIP1L1	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	4869	NPM1	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	5573	PRKAR1A	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	54880	BCOR	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	64859	NABP1	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	6777	STAT5B	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	4926	NUMA1	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	7704	ZBTB16	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	79718	TBL1XR1	ORPHA:520
HP:0001933	Subcutaneous hemorrhage	4615	MYD88	ORPHA:33226
HP:0001933	Subcutaneous hemorrhage	2815	GP9	OMIM:231200
HP:0001933	Subcutaneous hemorrhage	114548	NLRP3	ORPHA:1451
HP:0001933	Subcutaneous hemorrhage	23495	TNFRSF13B	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	4790	NFKB1	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	4791	NFKB2	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	115650	TNFRSF13C	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	1380	CR2	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	8742	TNFSF12	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	5580	PRKCD	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	930	CD19	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	29851	ICOS	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	931	MS4A1	ORPHA:1572
HP:0001933	Subcutaneous hemorrhage	9049	AIP	OMIM:219090
HP:0001933	Subcutaneous hemorrhage	3207	HOXA11	OMIM:605432
HP:0001933	Subcutaneous hemorrhage	3075	CFH	OMIM:235400
HP:0001933	Subcutaneous hemorrhage	3078	CFHR1	OMIM:235400
HP:0001933	Subcutaneous hemorrhage	10878	CFHR3	OMIM:235400
HP:0001933	Subcutaneous hemorrhage	2165	F13B	ORPHA:331
HP:0001933	Subcutaneous hemorrhage	2162	F13A1	ORPHA:331
HP:0001933	Subcutaneous hemorrhage	10559	SLC35A1	ORPHA:238459
HP:0001933	Subcutaneous hemorrhage	10559	SLC35A1	OMIM:603585
HP:0001933	Subcutaneous hemorrhage	5054	SERPINE1	ORPHA:465
HP:0001933	Subcutaneous hemorrhage	875	CBS	ORPHA:394
HP:0001933	Subcutaneous hemorrhage	2048	EPHB2	OMIM:618462
HP:0001933	Subcutaneous hemorrhage	113189	CHST14	ORPHA:2953
HP:0001933	Subcutaneous hemorrhage	29940	DSE	ORPHA:2953
HP:0001933	Subcutaneous hemorrhage	5155	PDGFB	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	9213	XPR1	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	5159	PDGFRB	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	57462	MYORG	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	6575	SLC20A2	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	58494	JAM2	ORPHA:1980
HP:0001933	Subcutaneous hemorrhage	5728	PTEN	ORPHA:109
HP:0001933	Subcutaneous hemorrhage	2658	GDF2	ORPHA:774
HP:0001933	Subcutaneous hemorrhage	94	ACVRL1	ORPHA:774
HP:0001933	Subcutaneous hemorrhage	4089	SMAD4	ORPHA:774
HP:0001933	Subcutaneous hemorrhage	2022	ENG	ORPHA:774
HP:0001933	Subcutaneous hemorrhage	538	ATP7A	ORPHA:565
HP:0001933	Subcutaneous hemorrhage	5568	PRKACG	OMIM:616176
HP:0001933	Subcutaneous hemorrhage	84342	COG8	ORPHA:95428
HP:0001933	Subcutaneous hemorrhage	2159	F10	ORPHA:328
HP:0001933	Subcutaneous hemorrhage	2153	F5	ORPHA:326
HP:0001933	Subcutaneous hemorrhage	1281	COL3A1	OMIM:130050
HP:0001933	Subcutaneous hemorrhage	3458	IFNG	ORPHA:88
HP:0001933	Subcutaneous hemorrhage	7012	TERC	ORPHA:88
HP:0001933	Subcutaneous hemorrhage	51119	SBDS	ORPHA:88
HP:0001933	Subcutaneous hemorrhage	7015	TERT	ORPHA:88
HP:0001933	Subcutaneous hemorrhage	2677	GGCX	OMIM:277450
HP:0001933	Subcutaneous hemorrhage	51206	GP6	OMIM:614201
HP:0001933	Subcutaneous hemorrhage	6915	TBXA2R	OMIM:614009
HP:0001933	Subcutaneous hemorrhage	3257	HPS1	OMIM:203300
HP:0001933	Subcutaneous hemorrhage	2147	F2	OMIM:613679
HP:0001933	Subcutaneous hemorrhage	64805	P2RY12	OMIM:609821
HP:0001933	Subcutaneous hemorrhage	1277	COL1A1	ORPHA:287
HP:0001933	Subcutaneous hemorrhage	1289	COL5A1	ORPHA:287
HP:0001933	Subcutaneous hemorrhage	1290	COL5A2	ORPHA:287
HP:0001933	Subcutaneous hemorrhage	79803	HPS6	OMIM:614075
HP:0001933	Subcutaneous hemorrhage	55340	GIMAP5	OMIM:619463
HP:0001933	Subcutaneous hemorrhage	8328	GFI1B	OMIM:187900
HP:0001934	Persistent bleeding after trauma	5345	SERPINF2	ORPHA:79
HP:0001934	Persistent bleeding after trauma	5345	SERPINF2	OMIM:262850
HP:0001934	Persistent bleeding after trauma	2165	F13B	ORPHA:331
HP:0001934	Persistent bleeding after trauma	2162	F13A1	ORPHA:331
HP:0001934	Persistent bleeding after trauma	2162	F13A1	OMIM:613225
HP:0001934	Persistent bleeding after trauma	2158	F9	OMIM:306900
HP:0001934	Persistent bleeding after trauma	5054	SERPINE1	ORPHA:465
HP:0001934	Persistent bleeding after trauma	2157	F8	OMIM:306700
HP:0001934	Persistent bleeding after trauma	2157	F8	ORPHA:169802
HP:0001934	Persistent bleeding after trauma	2243	FGA	OMIM:202400
HP:0001934	Persistent bleeding after trauma	2244	FGB	OMIM:202400
HP:0001934	Persistent bleeding after trauma	2266	FGG	OMIM:202400
HP:0001934	Persistent bleeding after trauma	7450	VWF	OMIM:193400
HP:0001934	Persistent bleeding after trauma	7450	VWF	OMIM:277480
HP:0001934	Persistent bleeding after trauma	2623	GATA1	OMIM:300367
HP:0001934	Persistent bleeding after trauma	84062	DTNBP1	OMIM:614076
HP:0001934	Persistent bleeding after trauma	90411	MCFD2	OMIM:613625
HP:0001934	Persistent bleeding after trauma	64805	P2RY12	OMIM:609821
HP:0001934	Persistent bleeding after trauma	2153	F5	ORPHA:326
HP:0001935	Microcytic anemia	9051	PSTPIP1	OMIM:604416
HP:0001935	Microcytic anemia	2658	GDF2	ORPHA:774
HP:0001935	Microcytic anemia	94	ACVRL1	ORPHA:774
HP:0001935	Microcytic anemia	4089	SMAD4	ORPHA:774
HP:0001935	Microcytic anemia	2022	ENG	ORPHA:774
HP:0001935	Microcytic anemia	3045	HBD	ORPHA:231237
HP:0001935	Microcytic anemia	10265	IRX5	OMIM:611174
HP:0001935	Microcytic anemia	2193	FARSA	OMIM:619013
HP:0001935	Microcytic anemia	3572	IL6ST	OMIM:619750
HP:0001935	Microcytic anemia	26007	TKFC	OMIM:618805
HP:0001935	Microcytic anemia	847	CAT	ORPHA:926
HP:0001935	Microcytic anemia	55109	AGGF1	ORPHA:90308
HP:0001935	Microcytic anemia	7454	WAS	ORPHA:906
HP:0001935	Microcytic anemia	7456	WIPF1	ORPHA:906
HP:0001935	Microcytic anemia	6609	SMPD1	OMIM:257200
HP:0001935	Microcytic anemia	79644	SRD5A3	ORPHA:324737
HP:0001935	Microcytic anemia	79644	SRD5A3	OMIM:612379
HP:0001935	Microcytic anemia	80324	PUS1	OMIM:600462
HP:0001935	Microcytic anemia	112812	FDX2	OMIM:251900
HP:0001935	Microcytic anemia	1468	SLC25A10	OMIM:618972
HP:0001935	Microcytic anemia	8737	RIPK1	OMIM:618852
HP:0001935	Microcytic anemia	8803	SUCLA2	OMIM:612073
HP:0001935	Microcytic anemia	3658	IREB2	OMIM:618451
HP:0001935	Microcytic anemia	7010	TEK	ORPHA:1059
HP:0001935	Microcytic anemia	55315	SLC29A3	ORPHA:168569
HP:0001935	Microcytic anemia	2542	SLC37A4	OMIM:619525
HP:0001935	Microcytic anemia	89874	SLC25A21	OMIM:618811
HP:0001935	Microcytic anemia	5696	PSMB8	OMIM:256040
HP:0001935	Microcytic anemia	2235	FECH	ORPHA:79278
HP:0001935	Microcytic anemia	55343	SLC35C1	ORPHA:99843
HP:0001935	Microcytic anemia	212	ALAS2	OMIM:300751
HP:0001935	Microcytic anemia	9663	LPIN2	ORPHA:77297
HP:0001935	Microcytic anemia	29775	CARD10	OMIM:619632
HP:0001935	Microcytic anemia	51095	TRNT1	OMIM:616084
HP:0001935	Microcytic anemia	3043	HBB	ORPHA:231214
HP:0001935	Microcytic anemia	3043	HBB	ORPHA:2133
HP:0001935	Microcytic anemia	3043	HBB	OMIM:604131
HP:0001935	Microcytic anemia	3043	HBB	ORPHA:251380
HP:0001935	Microcytic anemia	3043	HBB	ORPHA:231226
HP:0001935	Microcytic anemia	3043	HBB	OMIM:613985
HP:0001935	Microcytic anemia	131118	DNAJC19	ORPHA:66634
HP:0001935	Microcytic anemia	3040	HBA2	OMIM:604131
HP:0001935	Microcytic anemia	3039	HBA1	OMIM:604131
HP:0001935	Microcytic anemia	546	ATRX	OMIM:301040
HP:0001935	Microcytic anemia	546	ATRX	OMIM:300448
HP:0001935	Microcytic anemia	53335	BCL11A	ORPHA:251380
HP:0001935	Microcytic anemia	10661	KLF1	ORPHA:251380
HP:0001935	Microcytic anemia	3047	HBG1	ORPHA:251380
HP:0001935	Microcytic anemia	3048	HBG2	ORPHA:251380
HP:0001935	Microcytic anemia	28962	OSTM1	OMIM:259720
HP:0001935	Microcytic anemia	22	ABCB7	OMIM:301310
HP:0001935	Microcytic anemia	3735	KARS1	OMIM:619147
HP:0001935	Microcytic anemia	205327	C2orf69	OMIM:619423
HP:0001935	Microcytic anemia	150274	HSCB	OMIM:619523
HP:0001935	Microcytic anemia	164656	TMPRSS6	OMIM:206200
HP:0001935	Microcytic anemia	1356	CP	ORPHA:48818
HP:0001935	Microcytic anemia	23729	SHPK	ORPHA:440713
HP:0001935	Microcytic anemia	6901	TAFAZZIN	OMIM:302060
HP:0001973	Autoimmune thrombocytopenia	355	FAS	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	355	FAS	OMIM:601859
HP:0001973	Autoimmune thrombocytopenia	356	FASLG	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	356	FASLG	OMIM:601859
HP:0001973	Autoimmune thrombocytopenia	5580	PRKCD	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	5580	PRKCD	OMIM:615559
HP:0001973	Autoimmune thrombocytopenia	5580	PRKCD	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	843	CASP10	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	843	CASP10	OMIM:603909
HP:0001973	Autoimmune thrombocytopenia	10125	RASGRP1	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	10125	RASGRP1	OMIM:618534
HP:0001973	Autoimmune thrombocytopenia	6772	STAT1	ORPHA:391487
HP:0001973	Autoimmune thrombocytopenia	10043	TOM1	ORPHA:391487
HP:0001973	Autoimmune thrombocytopenia	4791	NFKB2	ORPHA:293978
HP:0001973	Autoimmune thrombocytopenia	4791	NFKB2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	3702	ITK	OMIM:613011
HP:0001973	Autoimmune thrombocytopenia	975	CD81	OMIM:613496
HP:0001973	Autoimmune thrombocytopenia	975	CD81	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	6774	STAT3	OMIM:615952
HP:0001973	Autoimmune thrombocytopenia	4860	PNP	OMIM:613179
HP:0001973	Autoimmune thrombocytopenia	4860	PNP	ORPHA:760
HP:0001973	Autoimmune thrombocytopenia	987	LRBA	OMIM:614700
HP:0001973	Autoimmune thrombocytopenia	54440	SASH3	OMIM:301082
HP:0001973	Autoimmune thrombocytopenia	50943	FOXP3	OMIM:304790
HP:0001973	Autoimmune thrombocytopenia	50943	FOXP3	ORPHA:37042
HP:0001973	Autoimmune thrombocytopenia	7174	TPP2	ORPHA:444463
HP:0001973	Autoimmune thrombocytopenia	7174	TPP2	OMIM:619220
HP:0001973	Autoimmune thrombocytopenia	51284	TLR7	OMIM:301080
HP:0001973	Autoimmune thrombocytopenia	3575	IL7R	ORPHA:169154
HP:0001973	Autoimmune thrombocytopenia	3845	KRAS	OMIM:614470
HP:0001973	Autoimmune thrombocytopenia	4893	NRAS	OMIM:614470
HP:0001973	Autoimmune thrombocytopenia	56259	CTNNBL1	OMIM:619846
HP:0001973	Autoimmune thrombocytopenia	5994	RFXAP	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	4261	CIITA	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	5993	RFX5	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	8625	RFXANK	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	54	ACP5	OMIM:607944
HP:0001973	Autoimmune thrombocytopenia	54	ACP5	ORPHA:1855
HP:0001973	Autoimmune thrombocytopenia	6609	SMPD1	ORPHA:77293
HP:0001973	Autoimmune thrombocytopenia	84061	MAGT1	OMIM:300853
HP:0001973	Autoimmune thrombocytopenia	8651	SOCS1	OMIM:619375
HP:0001973	Autoimmune thrombocytopenia	1493	CTLA4	OMIM:616100
HP:0001973	Autoimmune thrombocytopenia	27040	LAT	OMIM:617514
HP:0001973	Autoimmune thrombocytopenia	100	ADA	OMIM:102700
HP:0001973	Autoimmune thrombocytopenia	2581	GALC	OMIM:245200
HP:0001973	Autoimmune thrombocytopenia	23495	TNFRSF13B	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	4790	NFKB1	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	115650	TNFRSF13C	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	1380	CR2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	8742	TNFSF12	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	930	CD19	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	29851	ICOS	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	931	MS4A1	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	359948	IRF2BP2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	9138	ARHGEF1	OMIM:618459
HP:0001973	Autoimmune thrombocytopenia	7535	ZAP70	ORPHA:911
HP:0001973	Autoimmune thrombocytopenia	8085	KMT2D	OMIM:147920
HP:0001973	Autoimmune thrombocytopenia	7403	KDM6A	OMIM:147920
HP:0001937	Microangiopathic hemolytic anemia	3075	CFH	ORPHA:244242
HP:0001937	Microangiopathic hemolytic anemia	3075	CFH	OMIM:235400
HP:0001937	Microangiopathic hemolytic anemia	3426	CFI	ORPHA:244242
HP:0001937	Microangiopathic hemolytic anemia	3426	CFI	OMIM:612923
HP:0001937	Microangiopathic hemolytic anemia	4179	CD46	ORPHA:244242
HP:0001937	Microangiopathic hemolytic anemia	4179	CD46	OMIM:612922
HP:0001937	Microangiopathic hemolytic anemia	101101692	HELLPAR	ORPHA:244242
HP:0001937	Microangiopathic hemolytic anemia	11093	ADAMTS13	OMIM:274150
HP:0001937	Microangiopathic hemolytic anemia	6775	STAT4	ORPHA:93552
HP:0001937	Microangiopathic hemolytic anemia	6696	SPP1	ORPHA:93552
HP:0001937	Microangiopathic hemolytic anemia	3654	IRAK1	ORPHA:93552
HP:0001937	Microangiopathic hemolytic anemia	629	CFB	OMIM:612924
HP:0001937	Microangiopathic hemolytic anemia	7056	THBD	OMIM:612926
HP:0001937	Microangiopathic hemolytic anemia	3078	CFHR1	OMIM:235400
HP:0001937	Microangiopathic hemolytic anemia	10878	CFHR3	OMIM:235400
HP:0001937	Microangiopathic hemolytic anemia	718	C3	OMIM:612925
HP:0001941	Acidosis	6389	SDHA	ORPHA:255241
HP:0001941	Acidosis	80704	SLC19A3	ORPHA:255241
HP:0001941	Acidosis	91942	NDUFAF2	ORPHA:255241
HP:0001941	Acidosis	55572	FOXRED1	ORPHA:255241
HP:0001941	Acidosis	4729	NDUFV2	ORPHA:255241
HP:0001941	Acidosis	55967	NDUFA12	ORPHA:255241
HP:0001941	Acidosis	51204	TACO1	ORPHA:255241
HP:0001941	Acidosis	4724	NDUFS4	ORPHA:255241
HP:0001941	Acidosis	4728	NDUFS8	ORPHA:255241
HP:0001941	Acidosis	4722	NDUFS3	ORPHA:255241
HP:0001941	Acidosis	79133	NDUFAF5	ORPHA:255241
HP:0001941	Acidosis	1355	COX15	ORPHA:255241
HP:0001941	Acidosis	1892	ECHS1	ORPHA:255241
HP:0001941	Acidosis	123263	MTFMT	ORPHA:255241
HP:0001941	Acidosis	51079	NDUFA13	ORPHA:255241
HP:0001941	Acidosis	4705	NDUFA10	ORPHA:255241
HP:0001941	Acidosis	51601	LIPT1	ORPHA:255241
HP:0001941	Acidosis	4697	NDUFA4	ORPHA:255241
HP:0001941	Acidosis	1583	CYP11A1	ORPHA:289548
HP:0001941	Acidosis	1583	CYP11A1	ORPHA:168558
HP:0001941	Acidosis	29960	MRM2	OMIM:618567
HP:0001941	Acidosis	3773	KCNJ16	OMIM:619406
HP:0001941	Acidosis	2108	ETFA	OMIM:231680
HP:0001941	Acidosis	2109	ETFB	OMIM:231680
HP:0001941	Acidosis	2110	ETFDH	OMIM:231680
HP:0001941	Acidosis	83483	PLVAP	OMIM:618183
HP:0001941	Acidosis	3155	HMGCL	ORPHA:20
HP:0001941	Acidosis	3155	HMGCL	OMIM:246450
HP:0001941	Acidosis	5076	PAX2	ORPHA:97362
HP:0001941	Acidosis	5087	PBX1	ORPHA:97362
HP:0001941	Acidosis	374291	NDUFS7	OMIM:618224
HP:0001941	Acidosis	229	ALDOB	OMIM:229600
HP:0001941	Acidosis	229	ALDOB	ORPHA:469
HP:0001941	Acidosis	4723	NDUFV1	OMIM:618225
HP:0001941	Acidosis	57128	LYRM4	OMIM:615595
HP:0001941	Acidosis	6809	STX3	ORPHA:2290
HP:0001941	Acidosis	6809	STX3	OMIM:619445
HP:0001941	Acidosis	4645	MYO5B	ORPHA:2290
HP:0001941	Acidosis	79827	CLMP	OMIM:615237
HP:0001941	Acidosis	85476	GFM1	OMIM:609060
HP:0001941	Acidosis	4719	NDUFS1	OMIM:618226
HP:0001941	Acidosis	25821	MTO1	OMIM:614702
HP:0001941	Acidosis	4967	OGDH	OMIM:203740
HP:0001941	Acidosis	23417	MLYCD	OMIM:248360
HP:0001941	Acidosis	5250	SLC25A3	ORPHA:91130
HP:0001941	Acidosis	5250	SLC25A3	OMIM:610773
HP:0001941	Acidosis	132158	GLYCTK	ORPHA:941
HP:0001941	Acidosis	132158	GLYCTK	OMIM:220120
HP:0001941	Acidosis	779	CACNA1S	ORPHA:423
HP:0001941	Acidosis	56945	MRPS22	OMIM:611719
HP:0001941	Acidosis	3028	HSD17B10	ORPHA:391457
HP:0001941	Acidosis	3028	HSD17B10	ORPHA:391428
HP:0001941	Acidosis	3028	HSD17B10	OMIM:300438
HP:0001941	Acidosis	26275	HIBCH	ORPHA:88639
HP:0001941	Acidosis	6341	SCO1	OMIM:619048
HP:0001941	Acidosis	23395	LARS2	OMIM:617021
HP:0001941	Acidosis	51103	NDUFAF1	OMIM:618234
HP:0001941	Acidosis	4695	NDUFA2	OMIM:618235
HP:0001941	Acidosis	5160	PDHA1	OMIM:312170
HP:0001941	Acidosis	1352	COX10	OMIM:619046
HP:0001941	Acidosis	3141	HLCS	OMIM:253270
HP:0001941	Acidosis	29078	NDUFAF4	OMIM:618237
HP:0001941	Acidosis	55163	PNPO	ORPHA:79096
HP:0001941	Acidosis	55163	PNPO	OMIM:610090
HP:0001941	Acidosis	3242	HPD	OMIM:140350
HP:0001941	Acidosis	3242	HPD	ORPHA:2118
HP:0001941	Acidosis	58528	RRAGD	OMIM:620152
HP:0001941	Acidosis	1340	COX6B1	OMIM:619051
HP:0001941	Acidosis	84987	COX14	OMIM:619053
HP:0001941	Acidosis	8671	SLC4A4	OMIM:604278
HP:0001941	Acidosis	54539	NDUFB11	OMIM:301021
HP:0001941	Acidosis	3938	LCT	OMIM:223000
HP:0001941	Acidosis	2937	GSS	OMIM:231900
HP:0001941	Acidosis	4704	NDUFA9	OMIM:618247
HP:0001941	Acidosis	34	ACADM	OMIM:201450
HP:0001941	Acidosis	100131801	PET100	OMIM:619055
HP:0001941	Acidosis	50619	DEF6	OMIM:619573
HP:0001941	Acidosis	388753	COA6	OMIM:616501
HP:0001941	Acidosis	11232	POLG2	OMIM:618528
HP:0001941	Acidosis	4358	MPV17	OMIM:256810
HP:0001941	Acidosis	10616	RBCK1	OMIM:615895
HP:0001941	Acidosis	353	APRT	OMIM:614723
HP:0001941	Acidosis	549	AUH	OMIM:250950
HP:0001941	Acidosis	84693	MCEE	OMIM:251120
HP:0001941	Acidosis	6821	SUOX	OMIM:272300
HP:0001941	Acidosis	5095	PCCA	OMIM:606054
HP:0001941	Acidosis	5096	PCCB	OMIM:606054
HP:0001941	Acidosis	4700	NDUFA6	OMIM:618253
HP:0001941	Acidosis	55065	SLC52A1	OMIM:615026
HP:0001941	Acidosis	284184	NDUFAF8	OMIM:618776
HP:0001941	Acidosis	84300	UQCC2	OMIM:615824
HP:0001941	Acidosis	128989	TANGO2	OMIM:616878
HP:0001941	Acidosis	326625	MMAB	OMIM:251110
HP:0001941	Acidosis	60386	SLC25A19	ORPHA:99742
HP:0001941	Acidosis	2074	ERCC6	OMIM:214150
HP:0001941	Acidosis	11212	PLPBP	OMIM:617290
HP:0001941	Acidosis	54914	FOCAD	OMIM:619991
HP:0001941	Acidosis	7381	UQCRB	OMIM:615158
HP:0001941	Acidosis	189	AGXT	OMIM:259900
HP:0001941	Acidosis	189	AGXT	ORPHA:93598
HP:0001941	Acidosis	4329	ALDH6A1	OMIM:614105
HP:0001941	Acidosis	10128	LRPPRC	ORPHA:70472
HP:0001941	Acidosis	166785	MMAA	OMIM:251100
HP:0001941	Acidosis	6523	SLC5A1	OMIM:606824
HP:0001941	Acidosis	8050	PDHX	OMIM:245349
HP:0001941	Acidosis	6340	SCNN1G	ORPHA:171876
HP:0001941	Acidosis	6340	SCNN1G	OMIM:620126
HP:0001941	Acidosis	6337	SCNN1A	ORPHA:171876
HP:0001941	Acidosis	6337	SCNN1A	OMIM:264350
HP:0001941	Acidosis	6338	SCNN1B	ORPHA:171876
HP:0001941	Acidosis	6338	SCNN1B	OMIM:620125
HP:0001941	Acidosis	4716	NDUFB10	OMIM:619003
HP:0001941	Acidosis	7385	UQCRC2	OMIM:615160
HP:0001941	Acidosis	27068	PPA2	OMIM:617222
HP:0001941	Acidosis	4306	NR3C2	OMIM:177735
HP:0001941	Acidosis	28957	MRPS28	OMIM:618958
HP:0001941	Acidosis	7284	TUFM	OMIM:610678
HP:0001941	Acidosis	617	BCS1L	OMIM:124000
HP:0001941	Acidosis	2271	FH	OMIM:606812
HP:0001941	Acidosis	79989	IFT56	OMIM:619534
HP:0001941	Acidosis	200205	IBA57	OMIM:615330
HP:0001941	Acidosis	3172	HNF4A	OMIM:616026
HP:0001941	Acidosis	3762	KCNJ5	OMIM:613677
HP:0001941	Acidosis	25974	MMACHC	ORPHA:79282
HP:0001941	Acidosis	25974	MMACHC	OMIM:277400
HP:0001941	Acidosis	2184	FAH	OMIM:276700
HP:0001941	Acidosis	1807	DPYS	OMIM:222748
HP:0001941	Acidosis	1376	CPT2	ORPHA:228308
HP:0001941	Acidosis	2542	SLC37A4	OMIM:232240
HP:0001941	Acidosis	2639	GCDH	OMIM:231670
HP:0001941	Acidosis	37	ACADVL	ORPHA:26793
HP:0001941	Acidosis	50617	ATP6V0A4	OMIM:602722
HP:0001941	Acidosis	57505	AARS2	OMIM:614096
HP:0001941	Acidosis	51733	UPB1	OMIM:613161
HP:0001941	Acidosis	9054	NFS1	OMIM:619386
HP:0001941	Acidosis	7388	UQCRH	OMIM:620137
HP:0001941	Acidosis	5052	PRDX1	OMIM:277400
HP:0001941	Acidosis	1374	CPT1A	ORPHA:156
HP:0001941	Acidosis	1374	CPT1A	OMIM:255120
HP:0001941	Acidosis	525	ATP6V1B1	OMIM:267300
HP:0001941	Acidosis	57551	TAOK1	OMIM:619575
HP:0001941	Acidosis	26235	FBXL4	OMIM:615471
HP:0001941	Acidosis	57107	PDSS2	ORPHA:255249
HP:0001941	Acidosis	27235	COQ2	ORPHA:255249
HP:0001941	Acidosis	133686	NADK2	ORPHA:431361
HP:0001941	Acidosis	55005	RMND1	OMIM:614922
HP:0001941	Acidosis	5257	PHKB	ORPHA:79240
HP:0001941	Acidosis	4853	NOTCH2	OMIM:610205
HP:0001941	Acidosis	25915	NDUFAF3	ORPHA:70474
HP:0001941	Acidosis	4714	NDUFB8	ORPHA:70474
HP:0001941	Acidosis	4720	NDUFS2	ORPHA:70474
HP:0001941	Acidosis	9997	SCO2	ORPHA:70474
HP:0001941	Acidosis	6834	SURF1	ORPHA:70474
HP:0001941	Acidosis	26276	VPS33B	OMIM:208085
HP:0001941	Acidosis	5256	PHKA2	ORPHA:264580
HP:0001941	Acidosis	5261	PHKG2	ORPHA:264580
HP:0001941	Acidosis	790	CAD	OMIM:616457
HP:0001941	Acidosis	182	JAG1	OMIM:118450
HP:0001941	Acidosis	63894	VIPAS39	OMIM:613404
HP:0001941	Acidosis	57724	EPG5	ORPHA:1493
HP:0001941	Acidosis	8942	KYNU	ORPHA:79155
HP:0001941	Acidosis	1188	CLCNKB	ORPHA:358
HP:0001941	Acidosis	6559	SLC12A3	ORPHA:358
HP:0001941	Acidosis	760	CA2	ORPHA:2785
HP:0001941	Acidosis	8462	KLF11	ORPHA:552
HP:0001941	Acidosis	2645	GCK	ORPHA:552
HP:0001941	Acidosis	26060	APPL1	ORPHA:552
HP:0001941	Acidosis	640	BLK	ORPHA:552
HP:0001941	Acidosis	1056	CEL	ORPHA:552
HP:0001941	Acidosis	4760	NEUROD1	ORPHA:552
HP:0001941	Acidosis	3651	PDX1	ORPHA:552
HP:0001941	Acidosis	6833	ABCC8	ORPHA:552
HP:0001941	Acidosis	6833	ABCC8	ORPHA:99886
HP:0001941	Acidosis	3630	INS	ORPHA:552
HP:0001941	Acidosis	3630	INS	OMIM:618858
HP:0001941	Acidosis	3630	INS	OMIM:613370
HP:0001941	Acidosis	3643	INSR	OMIM:262190
HP:0001941	Acidosis	3643	INSR	ORPHA:769
HP:0001941	Acidosis	63924	CIDEC	OMIM:615238
HP:0001941	Acidosis	346171	ZFP57	ORPHA:99886
HP:0001941	Acidosis	57061	HYMAI	ORPHA:99886
HP:0001941	Acidosis	5325	PLAGL1	ORPHA:99886
HP:0001941	Acidosis	79783	SUGCT	ORPHA:35706
HP:0001941	Acidosis	3712	IVD	OMIM:243500
HP:0001941	Acidosis	197322	ACSF3	ORPHA:289504
HP:0001941	Acidosis	197322	ACSF3	OMIM:614265
HP:0001941	Acidosis	1738	DLD	OMIM:246900
HP:0001941	Acidosis	26191	PTPN22	OMIM:222100
HP:0001941	Acidosis	3710	ITPR3	OMIM:222100
HP:0001941	Acidosis	3569	IL6	OMIM:222100
HP:0001941	Acidosis	6927	HNF1A	OMIM:222100
HP:0001941	Acidosis	6566	SLC16A1	OMIM:616095
HP:0001941	Acidosis	513	ATP5F1D	OMIM:618120
HP:0001941	Acidosis	11222	MRPL3	OMIM:614582
HP:0001941	Acidosis	763	CA5A	OMIM:615751
HP:0001941	Acidosis	5078	PAX4	OMIM:612227
HP:0001941	Acidosis	3767	KCNJ11	OMIM:618856
HP:0001941	Acidosis	64087	MCCC2	OMIM:210210
HP:0001941	Acidosis	2710	GK	OMIM:307030
HP:0001941	Acidosis	9451	EIF2AK3	ORPHA:1667
HP:0001941	Acidosis	5277	PIGA	ORPHA:447
HP:0001941	Acidosis	9131	AIFM1	ORPHA:238329
HP:0001941	Acidosis	9131	AIFM1	OMIM:300816
HP:0001941	Acidosis	79717	PPCS	OMIM:618189
HP:0001941	Acidosis	400916	CHCHD10	OMIM:616209
HP:0001941	Acidosis	400916	CHCHD10	ORPHA:457050
HP:0001941	Acidosis	80222	TARS2	OMIM:615918
HP:0001941	Acidosis	4508	MT-ATP6	ORPHA:255210
HP:0001941	Acidosis	4508	MT-ATP6	ORPHA:320360
HP:0001941	Acidosis	51218	GLRX5	ORPHA:401866
HP:0001941	Acidosis	51218	GLRX5	OMIM:616859
HP:0001941	Acidosis	5917	RARS1	ORPHA:438114
HP:0001941	Acidosis	1841	DTYMK	OMIM:619847
HP:0001941	Acidosis	10730	YME1L1	OMIM:617302
HP:0001941	Acidosis	271	AMPD2	OMIM:615809
HP:0001941	Acidosis	87178	PNPT1	ORPHA:319514
HP:0001941	Acidosis	87178	PNPT1	OMIM:614932
HP:0001941	Acidosis	4718	NDUFC2	OMIM:619170
HP:0001941	Acidosis	116228	COX20	OMIM:619054
HP:0001941	Acidosis	1020	CDK5	OMIM:616342
HP:0001941	Acidosis	9692	PRORP	OMIM:619737
HP:0001941	Acidosis	55157	DARS2	ORPHA:137898
HP:0001941	Acidosis	1339	COX6A2	OMIM:619062
HP:0001941	Acidosis	100303755	PET117	OMIM:619063
HP:0001941	Acidosis	9377	COX5A	OMIM:619064
HP:0001941	Acidosis	1327	COX4I1	OMIM:619060
HP:0001941	Acidosis	4571	MT-TP	OMIM:545000
HP:0001941	Acidosis	4565	MT-TI	OMIM:545000
HP:0001941	Acidosis	5442	POLRMT	OMIM:619743
HP:0001941	Acidosis	39	ACAT2	OMIM:614055
HP:0001941	Acidosis	246243	RNASEH1	OMIM:616479
HP:0001941	Acidosis	79731	NARS2	OMIM:616239
HP:0001941	Acidosis	3735	KARS1	OMIM:619196
HP:0001941	Acidosis	3735	KARS1	OMIM:619147
HP:0001941	Acidosis	55768	NGLY1	OMIM:615273
HP:0001941	Acidosis	65080	MRPL44	OMIM:615395
HP:0001941	Acidosis	27089	UQCRQ	OMIM:615159
HP:0001941	Acidosis	1593	CYP27A1	ORPHA:909
HP:0001941	Acidosis	92609	TIMM50	OMIM:617698
HP:0001941	Acidosis	92609	TIMM50	ORPHA:505216
HP:0001941	Acidosis	4191	MDH2	OMIM:617339
HP:0001941	Acidosis	55210	ATAD3A	ORPHA:496790
HP:0001941	Acidosis	55210	ATAD3A	OMIM:618810
HP:0001941	Acidosis	55210	ATAD3A	OMIM:617183
HP:0001941	Acidosis	25828	TXN2	ORPHA:478029
HP:0001941	Acidosis	25828	TXN2	OMIM:616811
HP:0001941	Acidosis	56652	TWNK	OMIM:616138
HP:0001941	Acidosis	56652	TWNK	OMIM:607459
HP:0001941	Acidosis	56652	TWNK	ORPHA:254892
HP:0001941	Acidosis	56652	TWNK	OMIM:609286
HP:0001941	Acidosis	56652	TWNK	ORPHA:70595
HP:0001941	Acidosis	10531	PITRM1	OMIM:619405
HP:0001941	Acidosis	270	AMPD1	ORPHA:45
HP:0001941	Acidosis	272	AMPD3	ORPHA:45
HP:0001941	Acidosis	55739	NAXD	OMIM:618321
HP:0001941	Acidosis	8565	YARS1	OMIM:619418
HP:0001941	Acidosis	1384	CRAT	OMIM:617917
HP:0001941	Acidosis	91574	MTRFR	OMIM:613559
HP:0001941	Acidosis	3954	LETM1	OMIM:620089
HP:0001941	Acidosis	81570	CLPB	OMIM:616271
HP:0001941	Acidosis	81570	CLPB	ORPHA:445038
HP:0001941	Acidosis	51117	COQ4	OMIM:616276
HP:0001941	Acidosis	23590	PDSS1	OMIM:614651
HP:0001941	Acidosis	27429	HTRA2	OMIM:617248
HP:0001941	Acidosis	3329	HSPD1	OMIM:612233
HP:0001941	Acidosis	4568	MT-TL2	ORPHA:663
HP:0001941	Acidosis	6647	SOD1	OMIM:618598
HP:0001941	Acidosis	79587	CARS2	ORPHA:477774
HP:0001941	Acidosis	79587	CARS2	OMIM:616672
HP:0001941	Acidosis	8867	SYNJ1	OMIM:617389
HP:0001941	Acidosis	8492	PRSS12	OMIM:249500
HP:0001941	Acidosis	11093	ADAMTS13	OMIM:274150
HP:0001941	Acidosis	3939	LDHA	OMIM:612933
HP:0001941	Acidosis	4952	OCRL	ORPHA:534
HP:0001941	Acidosis	4204	MECP2	ORPHA:778
HP:0001941	Acidosis	90161	HS6ST2	OMIM:301025
HP:0001941	Acidosis	84340	GFM2	ORPHA:565624
HP:0001941	Acidosis	84340	GFM2	OMIM:618397
HP:0001941	Acidosis	51116	MRPS2	OMIM:617950
HP:0001941	Acidosis	9512	PMPCB	OMIM:617954
HP:0001941	Acidosis	91647	ATPAF2	OMIM:604273
HP:0001941	Acidosis	8604	SLC25A12	OMIM:612949
HP:0001941	Acidosis	9056	SLC7A7	OMIM:222700
HP:0001941	Acidosis	6390	SDHB	OMIM:619224
HP:0001941	Acidosis	6773	STAT2	OMIM:616636
HP:0001941	Acidosis	2998	GYS2	OMIM:240600
HP:0001941	Acidosis	81689	ISCA1	OMIM:617613
HP:0001941	Acidosis	6182	MRPL12	OMIM:618951
HP:0001941	Acidosis	57038	RARS2	OMIM:611523
HP:0001941	Acidosis	131118	DNAJC19	ORPHA:66634
HP:0001941	Acidosis	2806	GOT2	OMIM:618721
HP:0001941	Acidosis	84842	HPDL	OMIM:619026
HP:0001941	Acidosis	1468	SLC25A10	OMIM:618972
HP:0001941	Acidosis	29928	TIMM22	OMIM:618851
HP:0001941	Acidosis	115286	SLC25A26	OMIM:616794
HP:0001941	Acidosis	22868	FASTKD2	OMIM:618855
HP:0001941	Acidosis	54938	SARS2	OMIM:613845
HP:0001941	Acidosis	4702	NDUFA8	OMIM:619272
HP:0001941	Acidosis	51300	TIMMDC1	ORPHA:2609
HP:0001941	Acidosis	55863	TMEM126B	ORPHA:2609
HP:0001941	Acidosis	55863	TMEM126B	OMIM:618250
HP:0001941	Acidosis	4535	MT-ND1	ORPHA:2609
HP:0001941	Acidosis	4535	MT-ND1	OMIM:540000
HP:0001941	Acidosis	4535	MT-ND1	ORPHA:550
HP:0001941	Acidosis	4537	MT-ND3	ORPHA:2609
HP:0001941	Acidosis	4694	NDUFA1	ORPHA:2609
HP:0001941	Acidosis	4726	NDUFS6	ORPHA:2609
HP:0001941	Acidosis	4726	NDUFS6	OMIM:618232
HP:0001941	Acidosis	126328	NDUFA11	ORPHA:2609
HP:0001941	Acidosis	126328	NDUFA11	OMIM:618236
HP:0001941	Acidosis	4709	NDUFB3	ORPHA:2609
HP:0001941	Acidosis	4709	NDUFB3	OMIM:618246
HP:0001941	Acidosis	80224	NUBPL	ORPHA:2609
HP:0001941	Acidosis	4536	MT-ND2	ORPHA:2609
HP:0001941	Acidosis	4715	NDUFB9	ORPHA:2609
HP:0001941	Acidosis	4574	MT-TS1	OMIM:220110
HP:0001941	Acidosis	4574	MT-TS1	OMIM:540000
HP:0001941	Acidosis	4574	MT-TS1	ORPHA:550
HP:0001941	Acidosis	4570	MT-TN	OMIM:220110
HP:0001941	Acidosis	10059	DNM1L	OMIM:614388
HP:0001941	Acidosis	84334	COA8	ORPHA:436271
HP:0001941	Acidosis	10667	FARS2	OMIM:614946
HP:0001941	Acidosis	57176	VARS2	OMIM:615917
HP:0001941	Acidosis	65993	MRPS34	OMIM:617664
HP:0001941	Acidosis	4141	MARS1	OMIM:615486
HP:0001941	Acidosis	56997	COQ8A	ORPHA:139485
HP:0001941	Acidosis	56997	COQ8A	OMIM:612016
HP:0001941	Acidosis	6392	SDHD	OMIM:619167
HP:0001941	Acidosis	387787	LIPT2	OMIM:617668
HP:0001941	Acidosis	23474	ETHE1	ORPHA:51188
HP:0001941	Acidosis	23474	ETHE1	OMIM:602473
HP:0001941	Acidosis	5428	POLG	ORPHA:298
HP:0001941	Acidosis	5428	POLG	OMIM:603041
HP:0001941	Acidosis	1890	TYMP	ORPHA:298
HP:0001941	Acidosis	1890	TYMP	OMIM:603041
HP:0001941	Acidosis	3980	LIG3	ORPHA:298
HP:0001941	Acidosis	50484	RRM2B	ORPHA:298
HP:0001941	Acidosis	50484	RRM2B	OMIM:612075
HP:0001941	Acidosis	4512	MT-CO1	OMIM:540000
HP:0001941	Acidosis	4512	MT-CO1	ORPHA:550
HP:0001941	Acidosis	4513	MT-CO2	OMIM:540000
HP:0001941	Acidosis	4513	MT-CO2	ORPHA:550
HP:0001941	Acidosis	4514	MT-CO3	OMIM:540000
HP:0001941	Acidosis	4514	MT-CO3	ORPHA:550
HP:0001941	Acidosis	4519	MT-CYB	OMIM:540000
HP:0001941	Acidosis	4519	MT-CYB	ORPHA:137675
HP:0001941	Acidosis	4511	MT-TC	OMIM:540000
HP:0001941	Acidosis	4575	MT-TS2	OMIM:540000
HP:0001941	Acidosis	4575	MT-TS2	ORPHA:550
HP:0001941	Acidosis	4558	MT-TF	OMIM:540000
HP:0001941	Acidosis	4558	MT-TF	ORPHA:550
HP:0001941	Acidosis	4541	MT-ND6	OMIM:540000
HP:0001941	Acidosis	4541	MT-ND6	ORPHA:550
HP:0001941	Acidosis	4567	MT-TL1	OMIM:540000
HP:0001941	Acidosis	4567	MT-TL1	ORPHA:550
HP:0001941	Acidosis	4540	MT-ND5	OMIM:540000
HP:0001941	Acidosis	4540	MT-ND5	ORPHA:550
HP:0001941	Acidosis	4566	MT-TK	OMIM:540000
HP:0001941	Acidosis	4572	MT-TQ	OMIM:540000
HP:0001941	Acidosis	4572	MT-TQ	ORPHA:550
HP:0001941	Acidosis	4577	MT-TV	OMIM:540000
HP:0001941	Acidosis	4578	MT-TW	OMIM:540000
HP:0001941	Acidosis	4578	MT-TW	ORPHA:550
HP:0001941	Acidosis	55687	TRMU	OMIM:613070
HP:0001941	Acidosis	1351	COX8A	OMIM:619059
HP:0001941	Acidosis	5105	PCK1	OMIM:261680
HP:0001941	Acidosis	7084	TK2	OMIM:609560
HP:0001941	Acidosis	2538	G6PC1	OMIM:232200
HP:0001941	Acidosis	501	ALDH7A1	ORPHA:3006
HP:0001941	Acidosis	1716	DGUOK	OMIM:251880
HP:0001941	Acidosis	8802	SUCLG1	OMIM:245400
HP:0001941	Acidosis	8802	SUCLG1	ORPHA:17
HP:0001941	Acidosis	54968	TMEM70	OMIM:614052
HP:0001941	Acidosis	23203	PMPCA	ORPHA:1170
HP:0001941	Acidosis	7386	UQCRFS1	OMIM:618775
HP:0001941	Acidosis	514	ATP5F1E	OMIM:614053
HP:0001941	Acidosis	790955	UQCC3	OMIM:616111
HP:0001941	Acidosis	388962	BOLA3	OMIM:614299
HP:0001941	Acidosis	10352	WARS2	ORPHA:572798
HP:0001941	Acidosis	10352	WARS2	OMIM:617710
HP:0001941	Acidosis	51021	MRPS16	OMIM:610498
HP:0001941	Acidosis	284439	SLC25A42	OMIM:618416
HP:0001941	Acidosis	84947	SERAC1	OMIM:614739
HP:0001941	Acidosis	28976	ACAD9	ORPHA:99901
HP:0001941	Acidosis	28976	ACAD9	OMIM:611126
HP:0001941	Acidosis	5091	PC	OMIM:266150
HP:0001941	Acidosis	1629	DBT	OMIM:248600
HP:0001941	Acidosis	593	BCKDHA	OMIM:248600
HP:0001941	Acidosis	594	BCKDHB	OMIM:248600
HP:0001941	Acidosis	51660	MPC1	OMIM:614741
HP:0001941	Acidosis	4576	MT-TT	OMIM:551000
HP:0001941	Acidosis	90624	LYRM7	OMIM:615838
HP:0001941	Acidosis	1737	DLAT	OMIM:245348
HP:0001941	Acidosis	4285	MIPEP	OMIM:617228
HP:0001941	Acidosis	10165	SLC25A13	ORPHA:247598
HP:0001941	Acidosis	125988	MICOS13	OMIM:618329
HP:0001941	Acidosis	80324	PUS1	ORPHA:2598
HP:0001941	Acidosis	80324	PUS1	OMIM:600462
HP:0001941	Acidosis	51067	YARS2	ORPHA:2598
HP:0001941	Acidosis	51067	YARS2	OMIM:613561
HP:0001941	Acidosis	23479	ISCU	OMIM:255125
HP:0001941	Acidosis	57017	COQ9	OMIM:614654
HP:0001941	Acidosis	54704	PDP1	OMIM:608782
HP:0001941	Acidosis	54704	PDP1	ORPHA:79246
HP:0001941	Acidosis	84705	GTPBP3	ORPHA:444013
HP:0001941	Acidosis	84705	GTPBP3	OMIM:616198
HP:0001941	Acidosis	4538	MT-ND4	ORPHA:550
HP:0001941	Acidosis	4564	MT-TH	ORPHA:550
HP:0001941	Acidosis	2671	GFER	ORPHA:330054
HP:0001941	Acidosis	10102	TSFM	OMIM:610505
HP:0001941	Acidosis	291	SLC25A4	ORPHA:1369
HP:0001941	Acidosis	291	SLC25A4	OMIM:617184
HP:0001941	Acidosis	26007	TKFC	ORPHA:1369
HP:0001941	Acidosis	26007	TKFC	OMIM:618805
HP:0001941	Acidosis	55750	AGK	ORPHA:1369
HP:0001941	Acidosis	55750	AGK	OMIM:212350
HP:0001941	Acidosis	54931	TRMT10C	OMIM:616974
HP:0001941	Acidosis	11274	USP18	OMIM:617397
HP:0001941	Acidosis	708	C1QBP	OMIM:617713
HP:0001941	Acidosis	9361	LONP1	ORPHA:79243
HP:0001941	Acidosis	112812	FDX2	OMIM:251900
HP:0001941	Acidosis	63931	MRPS14	OMIM:618378
HP:0001941	Acidosis	58472	SQOR	OMIM:619221
HP:0001941	Acidosis	27010	TPK1	OMIM:614458
HP:0001941	Acidosis	51095	TRNT1	OMIM:616084
HP:0001941	Acidosis	11019	LIAS	OMIM:614462
HP:0001941	Acidosis	51520	LARS1	OMIM:615438
HP:0001941	Acidosis	5162	PDHB	ORPHA:255138
HP:0001941	Acidosis	5162	PDHB	OMIM:614111
HP:0001941	Acidosis	128240	NAXE	OMIM:617186
HP:0001941	Acidosis	60528	ELAC2	OMIM:615440
HP:0001941	Acidosis	55278	QRSL1	OMIM:618835
HP:0001941	Acidosis	5188	GATB	OMIM:618838
HP:0001941	Acidosis	57570	TRMT5	OMIM:616539
HP:0001941	Acidosis	498	ATP5F1A	OMIM:620358
HP:0001941	Acidosis	3033	HADH	ORPHA:71212
HP:0001941	Acidosis	3030	HADHA	OMIM:609015
HP:0001941	Acidosis	283459	GATC	OMIM:618839
HP:0001941	Acidosis	5495	PPM1B	ORPHA:163693
HP:0001941	Acidosis	6519	SLC3A1	ORPHA:163693
HP:0001941	Acidosis	9581	PREPL	ORPHA:163693
HP:0001941	Acidosis	79823	CAMKMT	ORPHA:163693
HP:0001941	Acidosis	51081	MRPS7	OMIM:617872
HP:0001941	Acidosis	63899	NSUN3	OMIM:619012
HP:0001941	Acidosis	119559	SFXN4	OMIM:615578
HP:0001941	Acidosis	124454	EARS2	OMIM:614924
HP:0001941	Acidosis	8803	SUCLA2	OMIM:612073
HP:0001941	Acidosis	4713	NDUFB7	OMIM:620135
HP:0001941	Acidosis	50640	PNPLA8	OMIM:251950
HP:0001941	Acidosis	51241	COX16	OMIM:619355
HP:0001941	Acidosis	4556	MT-TE	ORPHA:254864
HP:0001941	Acidosis	56922	MCCC1	OMIM:210200
HP:0001941	Acidosis	27247	NFU1	OMIM:605711
HP:0001941	Acidosis	4594	MMUT	OMIM:251000
HP:0001941	Acidosis	35	ACADS	OMIM:201470
HP:0001941	Acidosis	6901	TAFAZZIN	OMIM:302060
HP:0001941	Acidosis	2203	FBP1	ORPHA:348
HP:0001941	Acidosis	65266	WNK4	OMIM:614491
HP:0001941	Acidosis	65125	WNK1	OMIM:614492
HP:0001941	Acidosis	26249	KLHL3	OMIM:614495
HP:0001941	Acidosis	6521	SLC4A1	OMIM:611590
HP:0001941	Acidosis	8452	CUL3	OMIM:614496
HP:0001941	Acidosis	50674	NEUROG3	OMIM:610370
HP:0001941	Acidosis	50674	NEUROG3	ORPHA:83620
HP:0001941	Acidosis	137682	NDUFAF6	OMIM:618913
HP:0001941	Acidosis	137682	NDUFAF6	ORPHA:3337
HP:0001941	Acidosis	2592	GALT	OMIM:230400
HP:0001941	Acidosis	1497	CTNS	ORPHA:411629
HP:0001941	Acidosis	1962	EHHADH	ORPHA:3337
HP:0001941	Acidosis	2628	GATM	ORPHA:3337
HP:0001941	Acidosis	6569	SLC34A1	ORPHA:3337
HP:0001941	Acidosis	6261	RYR1	OMIM:145600
HP:0001941	Acidosis	3675	ITGA3	OMIM:614748
HP:0001941	Acidosis	38	ACAT1	OMIM:203750
HP:0001941	Acidosis	5019	OXCT1	OMIM:245050
HP:0001941	Acidosis	1537	CYC1	OMIM:615453
HP:0001941	Acidosis	6473	SHOX	ORPHA:314795
HP:0001941	Acidosis	27130	INVS	OMIM:602088
HP:0001941	Acidosis	686	BTD	OMIM:253260
HP:0001941	Acidosis	686	BTD	ORPHA:79241
HP:0001941	Acidosis	2625	GATA3	OMIM:146255
HP:0001941	Acidosis	10686	CLDN16	OMIM:248250
HP:0001941	Acidosis	6928	HNF1B	ORPHA:1309
HP:0001941	Acidosis	5836	PYGL	ORPHA:369
HP:0001941	Acidosis	6514	SLC2A2	OMIM:227810
HP:0001942	Metabolic acidosis	83483	PLVAP	OMIM:618183
HP:0001942	Metabolic acidosis	3155	HMGCL	ORPHA:20
HP:0001942	Metabolic acidosis	3155	HMGCL	OMIM:246450
HP:0001942	Metabolic acidosis	1738	DLD	OMIM:246900
HP:0001942	Metabolic acidosis	5076	PAX2	ORPHA:97362
HP:0001942	Metabolic acidosis	5087	PBX1	ORPHA:97362
HP:0001942	Metabolic acidosis	374291	NDUFS7	OMIM:618224
HP:0001942	Metabolic acidosis	229	ALDOB	OMIM:229600
HP:0001942	Metabolic acidosis	229	ALDOB	ORPHA:469
HP:0001942	Metabolic acidosis	4723	NDUFV1	OMIM:618225
HP:0001942	Metabolic acidosis	57128	LYRM4	OMIM:615595
HP:0001942	Metabolic acidosis	6809	STX3	ORPHA:2290
HP:0001942	Metabolic acidosis	6809	STX3	OMIM:619445
HP:0001942	Metabolic acidosis	4645	MYO5B	ORPHA:2290
HP:0001942	Metabolic acidosis	79827	CLMP	OMIM:615237
HP:0001942	Metabolic acidosis	763	CA5A	OMIM:615751
HP:0001942	Metabolic acidosis	85476	GFM1	OMIM:609060
HP:0001942	Metabolic acidosis	4719	NDUFS1	OMIM:618226
HP:0001942	Metabolic acidosis	25821	MTO1	OMIM:614702
HP:0001942	Metabolic acidosis	4967	OGDH	OMIM:203740
HP:0001942	Metabolic acidosis	23417	MLYCD	OMIM:248360
HP:0001942	Metabolic acidosis	5250	SLC25A3	ORPHA:91130
HP:0001942	Metabolic acidosis	5250	SLC25A3	OMIM:610773
HP:0001942	Metabolic acidosis	132158	GLYCTK	ORPHA:941
HP:0001942	Metabolic acidosis	132158	GLYCTK	OMIM:220120
HP:0001942	Metabolic acidosis	779	CACNA1S	ORPHA:423
HP:0001942	Metabolic acidosis	56945	MRPS22	OMIM:611719
HP:0001942	Metabolic acidosis	3028	HSD17B10	ORPHA:391457
HP:0001942	Metabolic acidosis	3028	HSD17B10	ORPHA:391428
HP:0001942	Metabolic acidosis	3028	HSD17B10	OMIM:300438
HP:0001942	Metabolic acidosis	3712	IVD	ORPHA:33
HP:0001942	Metabolic acidosis	3712	IVD	OMIM:243500
HP:0001942	Metabolic acidosis	26275	HIBCH	ORPHA:88639
HP:0001942	Metabolic acidosis	6341	SCO1	OMIM:619048
HP:0001942	Metabolic acidosis	23395	LARS2	OMIM:617021
HP:0001942	Metabolic acidosis	51103	NDUFAF1	OMIM:618234
HP:0001942	Metabolic acidosis	4695	NDUFA2	OMIM:618235
HP:0001942	Metabolic acidosis	5160	PDHA1	OMIM:312170
HP:0001942	Metabolic acidosis	1352	COX10	OMIM:619046
HP:0001942	Metabolic acidosis	3141	HLCS	OMIM:253270
HP:0001942	Metabolic acidosis	29078	NDUFAF4	OMIM:618237
HP:0001942	Metabolic acidosis	55163	PNPO	ORPHA:79096
HP:0001942	Metabolic acidosis	55163	PNPO	OMIM:610090
HP:0001942	Metabolic acidosis	3242	HPD	OMIM:140350
HP:0001942	Metabolic acidosis	3242	HPD	ORPHA:2118
HP:0001942	Metabolic acidosis	2710	GK	OMIM:307030
HP:0001942	Metabolic acidosis	58528	RRAGD	OMIM:620152
HP:0001942	Metabolic acidosis	1340	COX6B1	OMIM:619051
HP:0001942	Metabolic acidosis	84987	COX14	OMIM:619053
HP:0001942	Metabolic acidosis	8671	SLC4A4	OMIM:604278
HP:0001942	Metabolic acidosis	54539	NDUFB11	OMIM:301021
HP:0001942	Metabolic acidosis	3938	LCT	OMIM:223000
HP:0001942	Metabolic acidosis	2937	GSS	OMIM:231900
HP:0001942	Metabolic acidosis	4704	NDUFA9	OMIM:618247
HP:0001942	Metabolic acidosis	34	ACADM	OMIM:201450
HP:0001942	Metabolic acidosis	100131801	PET100	OMIM:619055
HP:0001942	Metabolic acidosis	50619	DEF6	OMIM:619573
HP:0001942	Metabolic acidosis	388753	COA6	OMIM:616501
HP:0001942	Metabolic acidosis	11232	POLG2	OMIM:618528
HP:0001942	Metabolic acidosis	4358	MPV17	OMIM:256810
HP:0001942	Metabolic acidosis	10616	RBCK1	OMIM:615895
HP:0001942	Metabolic acidosis	353	APRT	OMIM:614723
HP:0001942	Metabolic acidosis	64087	MCCC2	OMIM:210210
HP:0001942	Metabolic acidosis	549	AUH	OMIM:250950
HP:0001942	Metabolic acidosis	84693	MCEE	OMIM:251120
HP:0001942	Metabolic acidosis	6821	SUOX	OMIM:272300
HP:0001942	Metabolic acidosis	5095	PCCA	OMIM:606054
HP:0001942	Metabolic acidosis	5096	PCCB	OMIM:606054
HP:0001942	Metabolic acidosis	4700	NDUFA6	OMIM:618253
HP:0001942	Metabolic acidosis	55065	SLC52A1	OMIM:615026
HP:0001942	Metabolic acidosis	284184	NDUFAF8	OMIM:618776
HP:0001942	Metabolic acidosis	84300	UQCC2	OMIM:615824
HP:0001942	Metabolic acidosis	128989	TANGO2	OMIM:616878
HP:0001942	Metabolic acidosis	326625	MMAB	OMIM:251110
HP:0001942	Metabolic acidosis	60386	SLC25A19	ORPHA:99742
HP:0001942	Metabolic acidosis	2074	ERCC6	OMIM:214150
HP:0001942	Metabolic acidosis	11212	PLPBP	OMIM:617290
HP:0001942	Metabolic acidosis	54914	FOCAD	OMIM:619991
HP:0001942	Metabolic acidosis	11222	MRPL3	OMIM:614582
HP:0001942	Metabolic acidosis	7381	UQCRB	OMIM:615158
HP:0001942	Metabolic acidosis	189	AGXT	OMIM:259900
HP:0001942	Metabolic acidosis	189	AGXT	ORPHA:93598
HP:0001942	Metabolic acidosis	4329	ALDH6A1	OMIM:614105
HP:0001942	Metabolic acidosis	10128	LRPPRC	ORPHA:70472
HP:0001942	Metabolic acidosis	2203	FBP1	ORPHA:348
HP:0001942	Metabolic acidosis	2203	FBP1	OMIM:229700
HP:0001942	Metabolic acidosis	166785	MMAA	OMIM:251100
HP:0001942	Metabolic acidosis	6523	SLC5A1	OMIM:606824
HP:0001942	Metabolic acidosis	8050	PDHX	OMIM:245349
HP:0001942	Metabolic acidosis	6340	SCNN1G	ORPHA:171876
HP:0001942	Metabolic acidosis	6340	SCNN1G	OMIM:620126
HP:0001942	Metabolic acidosis	6337	SCNN1A	ORPHA:171876
HP:0001942	Metabolic acidosis	6337	SCNN1A	OMIM:264350
HP:0001942	Metabolic acidosis	6338	SCNN1B	ORPHA:171876
HP:0001942	Metabolic acidosis	6338	SCNN1B	OMIM:620125
HP:0001942	Metabolic acidosis	4716	NDUFB10	OMIM:619003
HP:0001942	Metabolic acidosis	7385	UQCRC2	OMIM:615160
HP:0001942	Metabolic acidosis	27068	PPA2	OMIM:617222
HP:0001942	Metabolic acidosis	4306	NR3C2	OMIM:177735
HP:0001942	Metabolic acidosis	28957	MRPS28	OMIM:618958
HP:0001942	Metabolic acidosis	7284	TUFM	OMIM:610678
HP:0001942	Metabolic acidosis	38	ACAT1	ORPHA:134
HP:0001942	Metabolic acidosis	2271	FH	OMIM:606812
HP:0001942	Metabolic acidosis	79989	IFT56	OMIM:619534
HP:0001942	Metabolic acidosis	200205	IBA57	OMIM:615330
HP:0001942	Metabolic acidosis	3762	KCNJ5	OMIM:613677
HP:0001942	Metabolic acidosis	25974	MMACHC	ORPHA:79282
HP:0001942	Metabolic acidosis	25974	MMACHC	OMIM:277400
HP:0001942	Metabolic acidosis	1807	DPYS	OMIM:222748
HP:0001942	Metabolic acidosis	1376	CPT2	ORPHA:228308
HP:0001942	Metabolic acidosis	2542	SLC37A4	OMIM:232240
HP:0001942	Metabolic acidosis	2639	GCDH	OMIM:231670
HP:0001942	Metabolic acidosis	37	ACADVL	ORPHA:26793
HP:0001942	Metabolic acidosis	57505	AARS2	OMIM:614096
HP:0001942	Metabolic acidosis	51733	UPB1	OMIM:613161
HP:0001942	Metabolic acidosis	9054	NFS1	OMIM:619386
HP:0001942	Metabolic acidosis	7388	UQCRH	OMIM:620137
HP:0001942	Metabolic acidosis	5052	PRDX1	OMIM:277400
HP:0001942	Metabolic acidosis	1374	CPT1A	ORPHA:156
HP:0001942	Metabolic acidosis	1374	CPT1A	OMIM:255120
HP:0001942	Metabolic acidosis	525	ATP6V1B1	OMIM:267300
HP:0001942	Metabolic acidosis	57551	TAOK1	OMIM:619575
HP:0001942	Metabolic acidosis	26235	FBXL4	OMIM:615471
HP:0001942	Metabolic acidosis	57107	PDSS2	ORPHA:255249
HP:0001942	Metabolic acidosis	27235	COQ2	ORPHA:255249
HP:0001942	Metabolic acidosis	133686	NADK2	ORPHA:431361
HP:0001942	Metabolic acidosis	55005	RMND1	OMIM:614922
HP:0001942	Metabolic acidosis	5257	PHKB	ORPHA:79240
HP:0001942	Metabolic acidosis	4853	NOTCH2	OMIM:610205
HP:0001942	Metabolic acidosis	25915	NDUFAF3	ORPHA:70474
HP:0001942	Metabolic acidosis	4714	NDUFB8	ORPHA:70474
HP:0001942	Metabolic acidosis	4720	NDUFS2	ORPHA:70474
HP:0001942	Metabolic acidosis	9997	SCO2	ORPHA:70474
HP:0001942	Metabolic acidosis	6834	SURF1	ORPHA:70474
HP:0001942	Metabolic acidosis	26276	VPS33B	OMIM:208085
HP:0001942	Metabolic acidosis	5256	PHKA2	ORPHA:264580
HP:0001942	Metabolic acidosis	5261	PHKG2	ORPHA:264580
HP:0001942	Metabolic acidosis	790	CAD	OMIM:616457
HP:0001942	Metabolic acidosis	182	JAG1	OMIM:118450
HP:0001942	Metabolic acidosis	63894	VIPAS39	OMIM:613404
HP:0001942	Metabolic acidosis	6514	SLC2A2	ORPHA:2088
HP:0001942	Metabolic acidosis	57724	EPG5	ORPHA:1493
HP:0001942	Metabolic acidosis	8942	KYNU	ORPHA:79155
HP:0001942	Metabolic acidosis	1188	CLCNKB	ORPHA:358
HP:0001942	Metabolic acidosis	6559	SLC12A3	ORPHA:358
HP:0001942	Metabolic acidosis	5442	POLRMT	OMIM:619743
HP:0001942	Metabolic acidosis	4574	MT-TS1	OMIM:220110
HP:0001942	Metabolic acidosis	4570	MT-TN	OMIM:220110
HP:0001942	Metabolic acidosis	50484	RRM2B	OMIM:268315
HP:0001942	Metabolic acidosis	84334	COA8	ORPHA:436271
HP:0001942	Metabolic acidosis	2184	FAH	OMIM:276700
HP:0001942	Metabolic acidosis	617	BCS1L	ORPHA:53693
HP:0001942	Metabolic acidosis	4952	OCRL	OMIM:309000
HP:0001942	Metabolic acidosis	5277	PIGA	ORPHA:447
HP:0001942	Metabolic acidosis	5091	PC	OMIM:266150
HP:0001942	Metabolic acidosis	56922	MCCC1	OMIM:210200
HP:0001942	Metabolic acidosis	27247	NFU1	OMIM:605711
HP:0001942	Metabolic acidosis	35	ACADS	OMIM:201470
HP:0001942	Metabolic acidosis	65266	WNK4	OMIM:614491
HP:0001942	Metabolic acidosis	65125	WNK1	OMIM:614492
HP:0001942	Metabolic acidosis	26249	KLHL3	OMIM:614495
HP:0001942	Metabolic acidosis	8452	CUL3	OMIM:614496
HP:0001942	Metabolic acidosis	50674	NEUROG3	OMIM:610370
HP:0001942	Metabolic acidosis	50674	NEUROG3	ORPHA:83620
HP:0001942	Metabolic acidosis	137682	NDUFAF6	OMIM:618913
HP:0001942	Metabolic acidosis	137682	NDUFAF6	ORPHA:3337
HP:0001942	Metabolic acidosis	2592	GALT	OMIM:230400
HP:0001942	Metabolic acidosis	1497	CTNS	ORPHA:411629
HP:0001942	Metabolic acidosis	1962	EHHADH	ORPHA:3337
HP:0001942	Metabolic acidosis	2628	GATM	ORPHA:3337
HP:0001942	Metabolic acidosis	6569	SLC34A1	ORPHA:3337
HP:0001942	Metabolic acidosis	6261	RYR1	OMIM:145600
HP:0001942	Metabolic acidosis	27130	INVS	OMIM:602088
HP:0001942	Metabolic acidosis	686	BTD	OMIM:253260
HP:0001942	Metabolic acidosis	686	BTD	ORPHA:79241
HP:0001942	Metabolic acidosis	3172	HNF4A	ORPHA:263455
HP:0001942	Metabolic acidosis	4594	MMUT	OMIM:251000
HP:0001942	Metabolic acidosis	1537	CYC1	OMIM:615453
HP:0001942	Metabolic acidosis	2625	GATA3	OMIM:146255
HP:0001942	Metabolic acidosis	50617	ATP6V0A4	OMIM:602722
HP:0001942	Metabolic acidosis	10686	CLDN16	OMIM:248250
HP:0001942	Metabolic acidosis	6928	HNF1B	ORPHA:1309
HP:0001942	Metabolic acidosis	6521	SLC4A1	OMIM:611590
HP:0001942	Metabolic acidosis	6521	SLC4A1	OMIM:179800
HP:0001942	Metabolic acidosis	760	CA2	OMIM:259730
HP:0001942	Metabolic acidosis	760	CA2	ORPHA:2785
HP:0001944	Dehydration	1497	CTNS	OMIM:219800
HP:0001944	Dehydration	1497	CTNS	ORPHA:411629
HP:0001944	Dehydration	1497	CTNS	ORPHA:411634
HP:0001944	Dehydration	3155	HMGCL	ORPHA:20
HP:0001944	Dehydration	197322	ACSF3	OMIM:614265
HP:0001944	Dehydration	197322	ACSF3	ORPHA:289504
HP:0001944	Dehydration	6809	STX3	ORPHA:2290
HP:0001944	Dehydration	4645	MYO5B	ORPHA:2290
HP:0001944	Dehydration	4645	MYO5B	OMIM:251850
HP:0001944	Dehydration	79827	CLMP	OMIM:615237
HP:0001944	Dehydration	3909	LAMA3	ORPHA:79404
HP:0001944	Dehydration	3918	LAMC2	ORPHA:79404
HP:0001944	Dehydration	3914	LAMB3	ORPHA:79404
HP:0001944	Dehydration	50674	NEUROG3	ORPHA:83620
HP:0001944	Dehydration	50674	NEUROG3	OMIM:610370
HP:0001944	Dehydration	6523	SLC5A1	ORPHA:35710
HP:0001944	Dehydration	3767	KCNJ11	ORPHA:79134
HP:0001944	Dehydration	3767	KCNJ11	ORPHA:99885
HP:0001944	Dehydration	3767	KCNJ11	ORPHA:99886
HP:0001944	Dehydration	79731	NARS2	ORPHA:79134
HP:0001944	Dehydration	6833	ABCC8	ORPHA:79134
HP:0001944	Dehydration	6833	ABCC8	ORPHA:99885
HP:0001944	Dehydration	6833	ABCC8	ORPHA:99886
HP:0001944	Dehydration	3284	HSD3B2	ORPHA:90791
HP:0001944	Dehydration	4952	OCRL	ORPHA:534
HP:0001944	Dehydration	6774	STAT3	ORPHA:99885
HP:0001944	Dehydration	2645	GCK	ORPHA:99885
HP:0001944	Dehydration	3651	PDX1	ORPHA:99885
HP:0001944	Dehydration	3630	INS	ORPHA:99885
HP:0001944	Dehydration	346171	ZFP57	ORPHA:99886
HP:0001944	Dehydration	346171	ZFP57	OMIM:601410
HP:0001944	Dehydration	57061	HYMAI	ORPHA:99886
HP:0001944	Dehydration	57061	HYMAI	ORPHA:96191
HP:0001944	Dehydration	57061	HYMAI	OMIM:601410
HP:0001944	Dehydration	5325	PLAGL1	ORPHA:99886
HP:0001944	Dehydration	5325	PLAGL1	ORPHA:96191
HP:0001944	Dehydration	4072	EPCAM	ORPHA:92050
HP:0001944	Dehydration	105371045	PERCC1	ORPHA:92050
HP:0001944	Dehydration	2212	FCGR2A	OMIM:219700
HP:0001944	Dehydration	7040	TGFB1	OMIM:219700
HP:0001944	Dehydration	1080	CFTR	OMIM:219700
HP:0001944	Dehydration	3938	LCT	OMIM:223000
HP:0001944	Dehydration	114548	NLRP3	ORPHA:47045
HP:0001944	Dehydration	1956	EGFR	OMIM:616069
HP:0001944	Dehydration	1585	CYP11B2	OMIM:203400
HP:0001944	Dehydration	1585	CYP11B2	OMIM:610600
HP:0001944	Dehydration	1585	CYP11B2	ORPHA:556030
HP:0001944	Dehydration	4594	MMUT	OMIM:251000
HP:0001944	Dehydration	4594	MMUT	ORPHA:79312
HP:0001944	Dehydration	84693	MCEE	OMIM:251120
HP:0001944	Dehydration	5095	PCCA	OMIM:606054
HP:0001944	Dehydration	5096	PCCB	OMIM:606054
HP:0001944	Dehydration	3712	IVD	OMIM:243500
HP:0001944	Dehydration	1583	CYP11A1	ORPHA:289548
HP:0001944	Dehydration	1583	CYP11A1	ORPHA:168558
HP:0001944	Dehydration	6557	SLC12A1	OMIM:601678
HP:0001944	Dehydration	26276	VPS33B	OMIM:208085
HP:0001944	Dehydration	3758	KCNJ1	OMIM:241200
HP:0001944	Dehydration	1591	CYP24A1	OMIM:143880
HP:0001944	Dehydration	38	ACAT1	OMIM:203750
HP:0001944	Dehydration	38	ACAT1	ORPHA:134
HP:0001944	Dehydration	326625	MMAB	OMIM:251110
HP:0001944	Dehydration	151516	ASPRV1	ORPHA:313
HP:0001944	Dehydration	242	ALOX12B	ORPHA:313
HP:0001944	Dehydration	126410	CYP4F22	ORPHA:313
HP:0001944	Dehydration	6820	SULT2B1	ORPHA:313
HP:0001944	Dehydration	26154	ABCA12	ORPHA:313
HP:0001944	Dehydration	26154	ABCA12	ORPHA:457
HP:0001944	Dehydration	643418	LIPN	ORPHA:313
HP:0001944	Dehydration	59344	ALOXE3	ORPHA:313
HP:0001944	Dehydration	348938	NIPAL4	ORPHA:313
HP:0001944	Dehydration	121214	SDR9C7	ORPHA:313
HP:0001944	Dehydration	7051	TGM1	ORPHA:313
HP:0001944	Dehydration	2074	ERCC6	OMIM:214150
HP:0001944	Dehydration	7809	BSND	ORPHA:89938
HP:0001944	Dehydration	1188	CLCNKB	ORPHA:89938
HP:0001944	Dehydration	1188	CLCNKB	OMIM:607364
HP:0001944	Dehydration	1187	CLCNKA	ORPHA:89938
HP:0001944	Dehydration	1621	DBH	ORPHA:230
HP:0001944	Dehydration	5314	PKHD1	OMIM:263200
HP:0001944	Dehydration	189	AGXT	OMIM:259900
HP:0001944	Dehydration	773	CACNA1A	ORPHA:2131
HP:0001944	Dehydration	6507	SLC1A3	ORPHA:2131
HP:0001944	Dehydration	477	ATP1A2	ORPHA:2131
HP:0001944	Dehydration	478	ATP1A3	ORPHA:2131
HP:0001944	Dehydration	166785	MMAA	OMIM:251100
HP:0001944	Dehydration	190	NR0B1	OMIM:300200
HP:0001944	Dehydration	6340	SCNN1G	ORPHA:171876
HP:0001944	Dehydration	6340	SCNN1G	OMIM:620126
HP:0001944	Dehydration	6337	SCNN1A	ORPHA:171876
HP:0001944	Dehydration	6337	SCNN1A	OMIM:264350
HP:0001944	Dehydration	6338	SCNN1B	ORPHA:171876
HP:0001944	Dehydration	6338	SCNN1B	OMIM:620125
HP:0001944	Dehydration	4306	NR3C2	OMIM:177735
HP:0001944	Dehydration	28957	MRPS28	OMIM:618958
HP:0001944	Dehydration	1811	SLC26A3	OMIM:214700
HP:0001944	Dehydration	1962	EHHADH	ORPHA:3337
HP:0001944	Dehydration	2628	GATM	ORPHA:3337
HP:0001944	Dehydration	137682	NDUFAF6	ORPHA:3337
HP:0001944	Dehydration	6569	SLC34A1	ORPHA:3337
HP:0001944	Dehydration	4221	MEN1	ORPHA:652
HP:0001944	Dehydration	1027	CDKN1B	ORPHA:652
HP:0001944	Dehydration	1026	CDKN1A	ORPHA:652
HP:0001944	Dehydration	1030	CDKN2B	ORPHA:652
HP:0001944	Dehydration	1031	CDKN2C	ORPHA:652
HP:0001944	Dehydration	6524	SLC5A2	ORPHA:69076
HP:0001944	Dehydration	55898	UNC45A	OMIM:619377
HP:0001944	Dehydration	1537	CYC1	OMIM:615453
HP:0001944	Dehydration	25974	MMACHC	ORPHA:79282
HP:0001944	Dehydration	9451	EIF2AK3	ORPHA:1667
HP:0001944	Dehydration	50617	ATP6V0A4	OMIM:602722
HP:0001944	Dehydration	81570	CLPB	OMIM:616271
HP:0001944	Dehydration	204	AK2	ORPHA:33355
HP:0001944	Dehydration	27034	ACAD8	ORPHA:79159
HP:0001944	Dehydration	6929	TCF3	ORPHA:33110
HP:0001944	Dehydration	973	CD79A	ORPHA:33110
HP:0001944	Dehydration	974	CD79B	ORPHA:33110
HP:0001944	Dehydration	3543	IGLL1	ORPHA:33110
HP:0001944	Dehydration	3507	IGHM	ORPHA:33110
HP:0001944	Dehydration	29760	BLNK	ORPHA:33110
HP:0001944	Dehydration	5295	PIK3R1	ORPHA:33110
HP:0001944	Dehydration	56262	LRRC8A	ORPHA:33110
HP:0001944	Dehydration	6584	SLC22A5	OMIM:212140
HP:0001944	Dehydration	11005	SPINK5	OMIM:256500
HP:0001944	Dehydration	554	AVPR2	ORPHA:223
HP:0001944	Dehydration	359	AQP2	ORPHA:223
HP:0001944	Dehydration	771	CA12	OMIM:143860
HP:0001945	Fever	3106	HLA-B	ORPHA:397
HP:0001945	Fever	3106	HLA-B	ORPHA:117
HP:0001945	Fever	3106	HLA-B	ORPHA:29207
HP:0001945	Fever	3106	HLA-B	ORPHA:36426
HP:0001945	Fever	3106	HLA-B	ORPHA:3287
HP:0001945	Fever	3123	HLA-DRB1	ORPHA:397
HP:0001945	Fever	3123	HLA-DRB1	ORPHA:85414
HP:0001945	Fever	3123	HLA-DRB1	ORPHA:545
HP:0001945	Fever	3123	HLA-DRB1	ORPHA:797
HP:0001945	Fever	3123	HLA-DRB1	ORPHA:747
HP:0001945	Fever	3123	HLA-DRB1	OMIM:181000
HP:0001945	Fever	8974	P4HA2	ORPHA:397
HP:0001945	Fever	4282	MIF	ORPHA:85414
HP:0001945	Fever	3569	IL6	ORPHA:85414
HP:0001945	Fever	8573	CASK	OMIM:300908
HP:0001945	Fever	2539	G6PD	OMIM:300908
HP:0001945	Fever	171023	ASXL1	ORPHA:98849
HP:0001945	Fever	3815	KIT	ORPHA:98849
HP:0001945	Fever	6427	SRSF2	ORPHA:98849
HP:0001945	Fever	6556	SLC11A1	ORPHA:3389
HP:0001945	Fever	5314	PKHD1	ORPHA:53035
HP:0001945	Fever	2038	EPB42	ORPHA:822
HP:0001945	Fever	6521	SLC4A1	ORPHA:822
HP:0001945	Fever	6710	SPTB	ORPHA:822
HP:0001945	Fever	6710	SPTB	ORPHA:288
HP:0001945	Fever	6708	SPTA1	ORPHA:822
HP:0001945	Fever	6708	SPTA1	ORPHA:288
HP:0001945	Fever	286	ANK1	ORPHA:822
HP:0001945	Fever	4535	MT-ND1	ORPHA:255210
HP:0001945	Fever	4535	MT-ND1	ORPHA:550
HP:0001945	Fever	4536	MT-ND2	ORPHA:255210
HP:0001945	Fever	4537	MT-ND3	ORPHA:255210
HP:0001945	Fever	4538	MT-ND4	ORPHA:255210
HP:0001945	Fever	4538	MT-ND4	ORPHA:550
HP:0001945	Fever	4567	MT-TL1	ORPHA:255210
HP:0001945	Fever	4567	MT-TL1	ORPHA:550
HP:0001945	Fever	4578	MT-TW	ORPHA:255210
HP:0001945	Fever	4578	MT-TW	ORPHA:550
HP:0001945	Fever	4577	MT-TV	ORPHA:255210
HP:0001945	Fever	4508	MT-ATP6	ORPHA:255210
HP:0001945	Fever	4540	MT-ND5	ORPHA:255210
HP:0001945	Fever	4540	MT-ND5	ORPHA:550
HP:0001945	Fever	4541	MT-ND6	ORPHA:255210
HP:0001945	Fever	4541	MT-ND6	ORPHA:550
HP:0001945	Fever	4566	MT-TK	ORPHA:255210
HP:0001945	Fever	249	ALPL	OMIM:241500
HP:0001945	Fever	939	CD27	OMIM:615122
HP:0001945	Fever	84936	ZFYVE19	OMIM:619849
HP:0001945	Fever	6523	SLC5A1	ORPHA:35710
HP:0001945	Fever	1536	CYBB	ORPHA:379
HP:0001945	Fever	1536	CYBB	OMIM:306400
HP:0001945	Fever	4688	NCF2	ORPHA:379
HP:0001945	Fever	1535	CYBA	ORPHA:379
HP:0001945	Fever	4689	NCF4	ORPHA:379
HP:0001945	Fever	653361	NCF1	ORPHA:379
HP:0001945	Fever	79415	CYBC1	ORPHA:379
HP:0001945	Fever	79415	CYBC1	OMIM:618935
HP:0001945	Fever	1896	EDA	OMIM:305100
HP:0001945	Fever	6772	STAT1	OMIM:614162
HP:0001945	Fever	2859	GPR35	ORPHA:171
HP:0001945	Fever	10507	SEMA4D	ORPHA:171
HP:0001945	Fever	4485	MST1	ORPHA:171
HP:0001945	Fever	6925	TCF4	ORPHA:171
HP:0001945	Fever	5699	PSMB10	OMIM:619175
HP:0001945	Fever	5896	RAG1	ORPHA:331206
HP:0001945	Fever	5896	RAG1	ORPHA:39041
HP:0001945	Fever	5897	RAG2	ORPHA:331206
HP:0001945	Fever	5897	RAG2	ORPHA:39041
HP:0001945	Fever	5621	PRNP	OMIM:600072
HP:0001945	Fever	2035	EPB41	ORPHA:288
HP:0001945	Fever	2995	GYPC	ORPHA:288
HP:0001945	Fever	1130	LYST	ORPHA:167
HP:0001945	Fever	23400	ATP13A2	ORPHA:306674
HP:0001945	Fever	477	ATP1A2	OMIM:602481
HP:0001945	Fever	1244	ABCC2	ORPHA:234
HP:0001945	Fever	595	CCND1	ORPHA:52416
HP:0001945	Fever	472	ATM	ORPHA:52416
HP:0001945	Fever	3492	IGH	ORPHA:52416
HP:0001945	Fever	3492	IGH	ORPHA:52417
HP:0001945	Fever	3492	IGH	ORPHA:545
HP:0001945	Fever	55768	NGLY1	OMIM:615273
HP:0001945	Fever	330	BIRC3	ORPHA:52417
HP:0001945	Fever	10892	MALT1	ORPHA:52417
HP:0001945	Fever	27086	FOXP1	ORPHA:52417
HP:0001945	Fever	8915	BCL10	ORPHA:52417
HP:0001945	Fever	6340	SCNN1G	ORPHA:60033
HP:0001945	Fever	1080	CFTR	ORPHA:60033
HP:0001945	Fever	1080	CFTR	OMIM:167800
HP:0001945	Fever	6337	SCNN1A	ORPHA:60033
HP:0001945	Fever	6338	SCNN1B	ORPHA:60033
HP:0001945	Fever	4519	MT-CYB	ORPHA:137675
HP:0001945	Fever	7454	WAS	ORPHA:906
HP:0001945	Fever	7456	WIPF1	ORPHA:906
HP:0001945	Fever	1493	CTLA4	ORPHA:900
HP:0001945	Fever	3115	HLA-DPB1	ORPHA:900
HP:0001945	Fever	5657	PRTN3	ORPHA:900
HP:0001945	Fever	3113	HLA-DPA1	ORPHA:900
HP:0001945	Fever	80704	SLC19A3	OMIM:607483
HP:0001945	Fever	2624	GATA2	ORPHA:3226
HP:0001945	Fever	11330	CTRC	OMIM:167800
HP:0001945	Fever	6690	SPINK1	OMIM:167800
HP:0001945	Fever	5645	PRSS2	OMIM:167800
HP:0001945	Fever	5644	PRSS1	OMIM:167800
HP:0001945	Fever	23175	LPIN1	OMIM:268200
HP:0001945	Fever	23175	LPIN1	ORPHA:99845
HP:0001945	Fever	3575	IL7R	ORPHA:169154
HP:0001945	Fever	3575	IL7R	ORPHA:39041
HP:0001945	Fever	4665	NAB2	ORPHA:2126
HP:0001945	Fever	6778	STAT6	ORPHA:2126
HP:0001945	Fever	4512	MT-CO1	ORPHA:99845
HP:0001945	Fever	4512	MT-CO1	ORPHA:550
HP:0001945	Fever	4514	MT-CO3	ORPHA:99845
HP:0001945	Fever	4514	MT-CO3	ORPHA:550
HP:0001945	Fever	3662	IRF4	ORPHA:3452
HP:0001945	Fever	11128	POLR3A	ORPHA:3455
HP:0001945	Fever	38	ACAT1	ORPHA:134
HP:0001945	Fever	695	BTK	ORPHA:47
HP:0001945	Fever	5373	PMM2	ORPHA:79318
HP:0001945	Fever	2153	F5	ORPHA:131
HP:0001945	Fever	84868	HAVCR2	ORPHA:86884
HP:0001945	Fever	84868	HAVCR2	OMIM:618398
HP:0001945	Fever	2184	FAH	OMIM:276700
HP:0001945	Fever	6583	SLC22A4	OMIM:180300
HP:0001945	Fever	4261	CIITA	OMIM:180300
HP:0001945	Fever	51744	CD244	OMIM:180300
HP:0001945	Fever	4795	NFKBIL1	OMIM:180300
HP:0001945	Fever	3586	IL10	OMIM:180300
HP:0001945	Fever	3586	IL10	ORPHA:117
HP:0001945	Fever	1967	EIF2B1	OMIM:603896
HP:0001945	Fever	10312	TCIRG1	ORPHA:486
HP:0001945	Fever	2672	GFI1	ORPHA:486
HP:0001945	Fever	6729	SRP54	ORPHA:486
HP:0001945	Fever	81570	CLPB	ORPHA:486
HP:0001945	Fever	226	ALDOA	ORPHA:57
HP:0001945	Fever	4615	MYD88	ORPHA:33226
HP:0001945	Fever	4615	MYD88	ORPHA:183713
HP:0001945	Fever	10568	SLC34A2	ORPHA:60025
HP:0001945	Fever	3394	IRF8	OMIM:614893
HP:0001945	Fever	3394	IRF8	OMIM:226990
HP:0001945	Fever	3394	IRF8	ORPHA:319600
HP:0001945	Fever	204	AK2	ORPHA:33355
HP:0001945	Fever	3075	CFH	OMIM:235400
HP:0001945	Fever	3078	CFHR1	OMIM:235400
HP:0001945	Fever	10878	CFHR3	OMIM:235400
HP:0001945	Fever	2068	ERCC2	ORPHA:910
HP:0001945	Fever	7507	XPA	ORPHA:910
HP:0001945	Fever	2071	ERCC3	ORPHA:910
HP:0001945	Fever	7508	XPC	ORPHA:910
HP:0001945	Fever	1643	DDB2	ORPHA:910
HP:0001945	Fever	2072	ERCC4	ORPHA:910
HP:0001945	Fever	2073	ERCC5	ORPHA:910
HP:0001945	Fever	6929	TCF3	ORPHA:33110
HP:0001945	Fever	973	CD79A	ORPHA:33110
HP:0001945	Fever	974	CD79B	ORPHA:33110
HP:0001945	Fever	3543	IGLL1	ORPHA:33110
HP:0001945	Fever	3507	IGHM	ORPHA:33110
HP:0001945	Fever	29760	BLNK	ORPHA:33110
HP:0001945	Fever	5295	PIK3R1	ORPHA:33110
HP:0001945	Fever	56262	LRRC8A	ORPHA:33110
HP:0001945	Fever	149233	IL23R	ORPHA:117
HP:0001945	Fever	1230	CCR1	ORPHA:117
HP:0001945	Fever	355	FAS	ORPHA:117
HP:0001945	Fever	3592	IL12A	ORPHA:117
HP:0001945	Fever	101928376	IL12A-AS1	ORPHA:117
HP:0001945	Fever	7099	TLR4	ORPHA:117
HP:0001945	Fever	3459	IFNGR1	ORPHA:117
HP:0001945	Fever	3459	IFNGR1	OMIM:209950
HP:0001945	Fever	720	C4A	ORPHA:117
HP:0001945	Fever	337867	UBAC2	ORPHA:117
HP:0001945	Fever	51752	ERAP1	ORPHA:117
HP:0001945	Fever	8302	KLRC4	ORPHA:117
HP:0001945	Fever	7187	TRAF3	ORPHA:1930
HP:0001945	Fever	81622	UNC93B1	ORPHA:1930
HP:0001945	Fever	148022	TICAM1	ORPHA:1930
HP:0001945	Fever	7098	TLR3	ORPHA:1930
HP:0001945	Fever	29110	TBK1	ORPHA:1930
HP:0001945	Fever	3155	HMGCL	ORPHA:20
HP:0001945	Fever	3155	HMGCL	OMIM:246450
HP:0001945	Fever	4558	MT-TF	ORPHA:550
HP:0001945	Fever	4572	MT-TQ	ORPHA:550
HP:0001945	Fever	4513	MT-CO2	ORPHA:550
HP:0001945	Fever	4574	MT-TS1	ORPHA:550
HP:0001945	Fever	4575	MT-TS2	ORPHA:550
HP:0001945	Fever	4564	MT-TH	ORPHA:550
HP:0001945	Fever	201294	UNC13D	OMIM:608898
HP:0001945	Fever	201294	UNC13D	ORPHA:540
HP:0001945	Fever	55388	MCM10	OMIM:619313
HP:0001945	Fever	3932	LCK	OMIM:615758
HP:0001945	Fever	3875	KRT18	OMIM:215600
HP:0001945	Fever	6696	SPP1	ORPHA:93552
HP:0001945	Fever	3654	IRAK1	ORPHA:93552
HP:0001945	Fever	9256	TSPOAP1	ORPHA:101150
HP:0001945	Fever	7054	TH	ORPHA:101150
HP:0001945	Fever	596	BCL2	ORPHA:545
HP:0001945	Fever	604	BCL6	ORPHA:545
HP:0001945	Fever	779	CACNA1S	ORPHA:423
HP:0001945	Fever	779	CACNA1S	OMIM:601887
HP:0001945	Fever	6261	RYR1	ORPHA:423
HP:0001945	Fever	7157	TP53	ORPHA:668
HP:0001945	Fever	5925	RB1	ORPHA:668
HP:0001945	Fever	11200	CHEK2	ORPHA:668
HP:0001945	Fever	4695	NDUFA2	OMIM:618235
HP:0001945	Fever	23095	KIF1B	OMIM:256700
HP:0001945	Fever	3350	HTR1A	OMIM:614674
HP:0001945	Fever	672	BRCA1	ORPHA:70567
HP:0001945	Fever	675	BRCA2	ORPHA:70567
HP:0001945	Fever	675	BRCA2	ORPHA:654
HP:0001945	Fever	5774	PTPN3	ORPHA:70567
HP:0001945	Fever	11093	ADAMTS13	OMIM:274150
HP:0001945	Fever	7248	TSC1	ORPHA:538
HP:0001945	Fever	7249	TSC2	ORPHA:538
HP:0001945	Fever	3930	LBR	ORPHA:779
HP:0001945	Fever	5978	REST	ORPHA:654
HP:0001945	Fever	129563	DIS3L2	ORPHA:654
HP:0001945	Fever	9319	TRIP13	ORPHA:654
HP:0001945	Fever	7490	WT1	ORPHA:654
HP:0001945	Fever	7490	WT1	ORPHA:656
HP:0001945	Fever	10155	TRIM28	ORPHA:654
HP:0001945	Fever	11281	POU6F2	ORPHA:654
HP:0001945	Fever	2719	GPC3	ORPHA:654
HP:0001945	Fever	283120	H19	ORPHA:654
HP:0001945	Fever	4868	NPHS1	ORPHA:656
HP:0001945	Fever	23607	CD2AP	ORPHA:656
HP:0001945	Fever	9688	NUP93	ORPHA:656
HP:0001945	Fever	4643	MYO1E	ORPHA:656
HP:0001945	Fever	64423	INF2	ORPHA:656
HP:0001945	Fever	26130	GAPVD1	ORPHA:656
HP:0001945	Fever	57122	NUP107	ORPHA:656
HP:0001945	Fever	51479	ANKFY1	ORPHA:656
HP:0001945	Fever	54443	ANLN	ORPHA:656
HP:0001945	Fever	5800	PTPRO	ORPHA:656
HP:0001945	Fever	286204	CRB2	ORPHA:656
HP:0001945	Fever	23165	NUP205	ORPHA:656
HP:0001945	Fever	2013	EMP2	ORPHA:656
HP:0001945	Fever	79023	NUP37	ORPHA:656
HP:0001945	Fever	51196	PLCE1	ORPHA:656
HP:0001945	Fever	79902	NUP85	ORPHA:656
HP:0001945	Fever	1285	COL4A3	ORPHA:656
HP:0001945	Fever	396	ARHGDIA	ORPHA:656
HP:0001945	Fever	79934	COQ8B	ORPHA:656
HP:0001945	Fever	23279	NUP160	ORPHA:656
HP:0001945	Fever	9863	MAGI2	ORPHA:656
HP:0001945	Fever	81	ACTN4	ORPHA:656
HP:0001945	Fever	7225	TRPC6	ORPHA:656
HP:0001945	Fever	8542	APOL1	ORPHA:656
HP:0001945	Fever	54885	TBC1D8B	ORPHA:656
HP:0001945	Fever	7827	NPHS2	ORPHA:656
HP:0001945	Fever	83478	ARHGAP24	ORPHA:656
HP:0001945	Fever	23500	DAAM2	ORPHA:656
HP:0001945	Fever	5076	PAX2	ORPHA:656
HP:0001945	Fever	55746	NUP133	ORPHA:656
HP:0001945	Fever	915	CD3D	ORPHA:169160
HP:0001945	Fever	916	CD3E	ORPHA:169160
HP:0001945	Fever	10320	IKZF1	ORPHA:36426
HP:0001945	Fever	10588	MTHFS	OMIM:618367
HP:0001945	Fever	6774	STAT3	ORPHA:2314
HP:0001945	Fever	6774	STAT3	ORPHA:520
HP:0001945	Fever	26525	IL36RN	OMIM:614204
HP:0001945	Fever	2717	GLA	ORPHA:324
HP:0001945	Fever	6557	SLC12A1	OMIM:601678
HP:0001945	Fever	5903	RANBP2	ORPHA:88619
HP:0001945	Fever	54681	P4HTM	OMIM:618493
HP:0001945	Fever	3758	KCNJ1	OMIM:241200
HP:0001945	Fever	1376	CPT2	OMIM:614212
HP:0001945	Fever	1376	CPT2	OMIM:608836
HP:0001945	Fever	1380	CR2	OMIM:614699
HP:0001945	Fever	5873	RAB27A	ORPHA:79477
HP:0001945	Fever	5873	RAB27A	OMIM:607624
HP:0001945	Fever	56244	BTNL2	ORPHA:797
HP:0001945	Fever	773	CACNA1A	OMIM:141500
HP:0001945	Fever	55975	KLHL7	OMIM:617055
HP:0001945	Fever	5167	ENPP1	ORPHA:51608
HP:0001945	Fever	368	ABCC6	ORPHA:51608
HP:0001945	Fever	10019	SH2B3	OMIM:254450
HP:0001945	Fever	2548	GAA	OMIM:232300
HP:0001945	Fever	6023	RMRP	ORPHA:39041
HP:0001945	Fever	55636	CHD7	ORPHA:39041
HP:0001945	Fever	3981	LIG4	ORPHA:39041
HP:0001945	Fever	64421	DCLRE1C	ORPHA:39041
HP:0001945	Fever	374879	ZNF699	OMIM:619488
HP:0001945	Fever	60468	BACH2	OMIM:618394
HP:0001945	Fever	5788	PTPRC	OMIM:619924
HP:0001945	Fever	1277	COL1A1	ORPHA:1310
HP:0001945	Fever	1277	COL1A1	OMIM:114000
HP:0001945	Fever	5294	PIK3CG	OMIM:619802
HP:0001945	Fever	50485	SMARCAL1	OMIM:242900
HP:0001945	Fever	5573	PRKAR1A	ORPHA:615
HP:0001945	Fever	5573	PRKAR1A	ORPHA:520
HP:0001945	Fever	3988	LIPA	ORPHA:75233
HP:0001945	Fever	2215	FCGR3B	ORPHA:464370
HP:0001945	Fever	2203	FBP1	OMIM:229700
HP:0001945	Fever	51371	POMP	OMIM:618048
HP:0001945	Fever	51081	MRPS7	OMIM:617872
HP:0001945	Fever	551	AVP	ORPHA:30925
HP:0001945	Fever	3458	IFNG	OMIM:618963
HP:0001945	Fever	3593	IL12B	ORPHA:3287
HP:0001945	Fever	6945	MLX	ORPHA:3287
HP:0001945	Fever	57410	SCYL1	ORPHA:466794
HP:0001945	Fever	9451	EIF2AK3	ORPHA:1667
HP:0001945	Fever	613	BCR	ORPHA:521
HP:0001945	Fever	25	ABL1	ORPHA:521
HP:0001945	Fever	861	RUNX1	ORPHA:521
HP:0001945	Fever	5371	PML	ORPHA:520
HP:0001945	Fever	5914	RARA	ORPHA:520
HP:0001945	Fever	359948	IRF2BP2	ORPHA:520
HP:0001945	Fever	81608	FIP1L1	ORPHA:520
HP:0001945	Fever	4869	NPM1	ORPHA:520
HP:0001945	Fever	54880	BCOR	ORPHA:520
HP:0001945	Fever	64859	NABP1	ORPHA:520
HP:0001945	Fever	6777	STAT5B	ORPHA:520
HP:0001945	Fever	4926	NUMA1	ORPHA:520
HP:0001945	Fever	7704	ZBTB16	ORPHA:520
HP:0001945	Fever	79718	TBL1XR1	ORPHA:520
HP:0001945	Fever	9051	PSTPIP1	ORPHA:69126
HP:0001945	Fever	7388	UQCRH	OMIM:620137
HP:0001945	Fever	1371	CPOX	ORPHA:79273
HP:0001945	Fever	3145	HMBS	ORPHA:79276
HP:0001945	Fever	3561	IL2RG	ORPHA:276
HP:0001945	Fever	8518	ELP1	OMIM:223900
HP:0001945	Fever	9663	LPIN2	OMIM:609628
HP:0001945	Fever	1589	CYP21A2	OMIM:201910
HP:0001945	Fever	970	CD70	OMIM:618261
HP:0001945	Fever	30011	SH3KBP1	OMIM:300310
HP:0001945	Fever	90268	OTULIN	OMIM:617099
HP:0001945	Fever	8367	H4C5	OMIM:619950
HP:0001945	Fever	1053	CEBPE	OMIM:260570
HP:0001945	Fever	3043	HBB	ORPHA:231214
HP:0001945	Fever	3043	HBB	ORPHA:231226
HP:0001945	Fever	3702	ITK	OMIM:613011
HP:0001945	Fever	114548	NLRP3	OMIM:191900
HP:0001945	Fever	114548	NLRP3	OMIM:607115
HP:0001945	Fever	114548	NLRP3	OMIM:120100
HP:0001945	Fever	54914	FOCAD	OMIM:619991
HP:0001945	Fever	331	XIAP	OMIM:300635
HP:0001945	Fever	331	XIAP	OMIM:308240
HP:0001945	Fever	6711	SPTBN1	OMIM:619475
HP:0001945	Fever	85446	ZFHX2	OMIM:147430
HP:0001945	Fever	5190	PEX6	OMIM:614863
HP:0001945	Fever	4598	MVK	OMIM:260920
HP:0001945	Fever	4598	MVK	ORPHA:343
HP:0001945	Fever	100151683	RNU4ATAC	OMIM:210710
HP:0001945	Fever	5580	PRKCD	OMIM:615559
HP:0001945	Fever	2643	GCH1	OMIM:233910
HP:0001945	Fever	4803	NGF	OMIM:608654
HP:0001945	Fever	718	C3	OMIM:613779
HP:0001945	Fever	51284	TLR7	OMIM:301080
HP:0001945	Fever	3190	HNRNPK	ORPHA:453504
HP:0001945	Fever	3190	HNRNPK	ORPHA:352665
HP:0001945	Fever	5551	PRF1	OMIM:603553
HP:0001945	Fever	8676	STX11	OMIM:603552
HP:0001945	Fever	58484	NLRC4	OMIM:616050
HP:0001945	Fever	7317	UBA1	OMIM:301054
HP:0001945	Fever	57511	COG6	ORPHA:363523
HP:0001945	Fever	4210	MEFV	OMIM:249100
HP:0001945	Fever	4210	MEFV	OMIM:134610
HP:0001945	Fever	4210	MEFV	OMIM:608068
HP:0001945	Fever	57169	ZNFX1	OMIM:619644
HP:0001945	Fever	9948	WDR1	OMIM:150550
HP:0001945	Fever	22861	NLRP1	OMIM:617388
HP:0001945	Fever	6813	STXBP2	OMIM:613101
HP:0001945	Fever	51816	ADA2	OMIM:615688
HP:0001945	Fever	91662	NLRP12	OMIM:611762
HP:0001945	Fever	5376	PMP22	ORPHA:98916
HP:0001945	Fever	7132	TNFRSF1A	ORPHA:32960
HP:0001945	Fever	7132	TNFRSF1A	OMIM:142680
HP:0001945	Fever	91949	COG7	ORPHA:79333
HP:0001945	Fever	1991	ELANE	ORPHA:2686
HP:0001945	Fever	4068	SH2D1A	OMIM:308240
HP:0001945	Fever	55343	SLC35C1	ORPHA:99843
HP:0001945	Fever	427	ASAH1	ORPHA:333
HP:0001945	Fever	427	ASAH1	OMIM:228000
HP:0001945	Fever	5805	PTS	OMIM:261640
HP:0001945	Fever	55739	NAXD	OMIM:618321
HP:0001945	Fever	5966	REL	OMIM:619652
HP:0001945	Fever	10134	BCAP31	ORPHA:369939
HP:0001945	Fever	5692	PSMB4	OMIM:617591
HP:0001945	Fever	5698	PSMB9	OMIM:617591
HP:0001945	Fever	50619	DEF6	OMIM:619573
HP:0001945	Fever	200205	IBA57	OMIM:615330
HP:0001945	Fever	7128	TNFAIP3	OMIM:616744
HP:0001945	Fever	3977	LIFR	ORPHA:3206
HP:0001945	Fever	3977	LIFR	OMIM:601559
HP:0001945	Fever	84876	ORAI1	OMIM:612782
HP:0001945	Fever	100	ADA	OMIM:102700
HP:0001945	Fever	1777	DNASE2	OMIM:619858
HP:0001945	Fever	10616	RBCK1	OMIM:615895
HP:0001945	Fever	6786	STIM1	OMIM:612783
HP:0001945	Fever	6773	STAT2	OMIM:618886
HP:0001945	Fever	340061	STING1	OMIM:615934
HP:0001945	Fever	1585	CYP11B2	OMIM:203400
HP:0001945	Fever	506	ATP5F1B	OMIM:620085
HP:0001945	Fever	56984	PSMG2	OMIM:619183
HP:0001945	Fever	6850	SYK	OMIM:619381
HP:0001945	Fever	2000	ELF4	OMIM:301074
HP:0001945	Fever	5860	QDPR	OMIM:261630
HP:0001945	Fever	205327	C2orf69	OMIM:619423
HP:0001945	Fever	8737	RIPK1	OMIM:618852
HP:0001945	Fever	254428	SLC41A1	OMIM:619468
HP:0001945	Fever	341208	HEPHL1	OMIM:261990
HP:0001945	Fever	64127	NOD2	OMIM:617321
HP:0001945	Fever	1794	DOCK2	OMIM:616433
HP:0001945	Fever	55315	SLC29A3	ORPHA:168569
HP:0001945	Fever	6559	SLC12A3	OMIM:263800
HP:0001945	Fever	5696	PSMB8	OMIM:256040
HP:0001945	Fever	9244	CRLF1	OMIM:272430
HP:0001945	Fever	165918	RNF168	ORPHA:420741
HP:0001945	Fever	80216	ALPK1	OMIM:614979
HP:0001945	Fever	3909	LAMA3	ORPHA:79404
HP:0001945	Fever	3918	LAMC2	ORPHA:79404
HP:0001945	Fever	3914	LAMB3	ORPHA:79404
HP:0001945	Fever	4914	NTRK1	ORPHA:642
HP:0001945	Fever	359	AQP2	OMIM:125800
HP:0001945	Fever	55858	TMEM165	OMIM:614727
HP:0001945	Fever	2581	GALC	ORPHA:206436
HP:0001945	Fever	5660	PSAP	ORPHA:206436
HP:0001945	Fever	10535	RNASEH2A	ORPHA:51
HP:0001945	Fever	84153	RNASEH2C	ORPHA:51
HP:0001945	Fever	25939	SAMHD1	ORPHA:51
HP:0001945	Fever	79621	RNASEH2B	ORPHA:51
HP:0001945	Fever	103	ADAR	ORPHA:51
HP:0001945	Fever	11277	TREX1	ORPHA:51
HP:0001945	Fever	100147744	RNU7-1	ORPHA:51
HP:0001945	Fever	134353	LSM11	ORPHA:51
HP:0001945	Fever	64135	IFIH1	ORPHA:51
HP:0001945	Fever	54675	CRLS1	OMIM:620167
HP:0001945	Fever	7080	NKX2-1	ORPHA:209905
HP:0001945	Fever	554	AVPR2	OMIM:304800
HP:0001945	Fever	6775	STAT4	ORPHA:85408
HP:0001945	Fever	3560	IL2RB	ORPHA:85408
HP:0001945	Fever	79722	ANKRD55	ORPHA:85408
HP:0001945	Fever	26191	PTPN22	ORPHA:85408
HP:0001945	Fever	919	CD247	ORPHA:85408
HP:0001945	Fever	3559	IL2RA	ORPHA:85408
HP:0001945	Fever	5771	PTPN2	ORPHA:85408
HP:0001945	Fever	811	CALR	ORPHA:824
HP:0001945	Fever	4352	MPL	ORPHA:824
HP:0001945	Fever	3717	JAK2	ORPHA:824
HP:0001945	Fever	54790	TET2	ORPHA:824
HP:0001945	Fever	4524	MTHFR	ORPHA:563612
HP:0001945	Fever	4524	MTHFR	ORPHA:563609
HP:0001945	Fever	57216	VANGL2	ORPHA:563612
HP:0001945	Fever	57216	VANGL2	ORPHA:563609
HP:0001945	Fever	51095	TRNT1	OMIM:616084
HP:0001945	Fever	667	DST	OMIM:614653
HP:0001945	Fever	144811	LACC1	OMIM:618795
HP:0001947	Renal tubular acidosis	1374	CPT1A	ORPHA:156
HP:0001947	Renal tubular acidosis	1374	CPT1A	OMIM:255120
HP:0001947	Renal tubular acidosis	525	ATP6V1B1	OMIM:267300
HP:0001947	Renal tubular acidosis	57551	TAOK1	OMIM:619575
HP:0001947	Renal tubular acidosis	26235	FBXL4	OMIM:615471
HP:0001947	Renal tubular acidosis	57107	PDSS2	ORPHA:255249
HP:0001947	Renal tubular acidosis	27235	COQ2	ORPHA:255249
HP:0001947	Renal tubular acidosis	133686	NADK2	ORPHA:431361
HP:0001947	Renal tubular acidosis	55005	RMND1	OMIM:614922
HP:0001947	Renal tubular acidosis	5257	PHKB	ORPHA:79240
HP:0001947	Renal tubular acidosis	4853	NOTCH2	OMIM:610205
HP:0001947	Renal tubular acidosis	25915	NDUFAF3	ORPHA:70474
HP:0001947	Renal tubular acidosis	4714	NDUFB8	ORPHA:70474
HP:0001947	Renal tubular acidosis	4720	NDUFS2	ORPHA:70474
HP:0001947	Renal tubular acidosis	9997	SCO2	ORPHA:70474
HP:0001947	Renal tubular acidosis	6834	SURF1	ORPHA:70474
HP:0001947	Renal tubular acidosis	26276	VPS33B	OMIM:208085
HP:0001947	Renal tubular acidosis	5256	PHKA2	ORPHA:264580
HP:0001947	Renal tubular acidosis	5261	PHKG2	ORPHA:264580
HP:0001947	Renal tubular acidosis	790	CAD	OMIM:616457
HP:0001947	Renal tubular acidosis	182	JAG1	OMIM:118450
HP:0001947	Renal tubular acidosis	63894	VIPAS39	OMIM:613404
HP:0001947	Renal tubular acidosis	6514	SLC2A2	ORPHA:2088
HP:0001947	Renal tubular acidosis	57724	EPG5	ORPHA:1493
HP:0001947	Renal tubular acidosis	8942	KYNU	ORPHA:79155
HP:0001947	Renal tubular acidosis	1188	CLCNKB	ORPHA:358
HP:0001947	Renal tubular acidosis	6559	SLC12A3	ORPHA:358
HP:0001947	Renal tubular acidosis	1497	CTNS	OMIM:219800
HP:0001947	Renal tubular acidosis	1497	CTNS	ORPHA:411634
HP:0001947	Renal tubular acidosis	1497	CTNS	ORPHA:411629
HP:0001947	Renal tubular acidosis	3172	HNF4A	ORPHA:263455
HP:0001947	Renal tubular acidosis	5442	POLRMT	OMIM:619743
HP:0001947	Renal tubular acidosis	4574	MT-TS1	OMIM:220110
HP:0001947	Renal tubular acidosis	4570	MT-TN	OMIM:220110
HP:0001947	Renal tubular acidosis	50484	RRM2B	OMIM:268315
HP:0001947	Renal tubular acidosis	84334	COA8	ORPHA:436271
HP:0001947	Renal tubular acidosis	2184	FAH	OMIM:276700
HP:0001947	Renal tubular acidosis	617	BCS1L	ORPHA:53693
HP:0001947	Renal tubular acidosis	4952	OCRL	OMIM:309000
HP:0001947	Renal tubular acidosis	5277	PIGA	ORPHA:447
HP:0001947	Renal tubular acidosis	8671	SLC4A4	OMIM:604278
HP:0001947	Renal tubular acidosis	84300	UQCC2	OMIM:615824
HP:0001947	Renal tubular acidosis	5091	PC	OMIM:266150
HP:0001947	Renal tubular acidosis	229	ALDOB	OMIM:229600
HP:0001947	Renal tubular acidosis	1962	EHHADH	ORPHA:3337
HP:0001947	Renal tubular acidosis	2628	GATM	ORPHA:3337
HP:0001947	Renal tubular acidosis	137682	NDUFAF6	ORPHA:3337
HP:0001947	Renal tubular acidosis	6569	SLC34A1	ORPHA:3337
HP:0001947	Renal tubular acidosis	2625	GATA3	OMIM:146255
HP:0001947	Renal tubular acidosis	50617	ATP6V0A4	OMIM:602722
HP:0001947	Renal tubular acidosis	10686	CLDN16	OMIM:248250
HP:0001947	Renal tubular acidosis	6928	HNF1B	ORPHA:1309
HP:0001947	Renal tubular acidosis	6521	SLC4A1	OMIM:611590
HP:0001947	Renal tubular acidosis	6521	SLC4A1	OMIM:179800
HP:0001947	Renal tubular acidosis	760	CA2	OMIM:259730
HP:0001947	Renal tubular acidosis	760	CA2	ORPHA:2785
HP:0001948	Alkalosis	9049	AIP	OMIM:219090
HP:0001948	Alkalosis	9101	USP8	OMIM:219090
HP:0001948	Alkalosis	1811	SLC26A3	OMIM:214700
HP:0001948	Alkalosis	6559	SLC12A3	OMIM:263800
HP:0001948	Alkalosis	6338	SCNN1B	OMIM:177200
HP:0001948	Alkalosis	1586	CYP17A1	OMIM:202110
HP:0001948	Alkalosis	763	CA5A	OMIM:615751
HP:0001948	Alkalosis	5009	OTC	OMIM:311250
HP:0001948	Alkalosis	435	ASL	OMIM:207900
HP:0001948	Alkalosis	445	ASS1	OMIM:215700
HP:0001948	Alkalosis	1373	CPS1	OMIM:237300
HP:0001948	Alkalosis	10166	SLC25A15	ORPHA:415
HP:0001948	Alkalosis	3291	HSD11B2	ORPHA:320
HP:0001948	Alkalosis	6557	SLC12A1	OMIM:601678
HP:0001948	Alkalosis	7809	BSND	ORPHA:89938
HP:0001948	Alkalosis	1188	CLCNKB	ORPHA:89938
HP:0001948	Alkalosis	1188	CLCNKB	OMIM:607364
HP:0001948	Alkalosis	1187	CLCNKA	ORPHA:89938
HP:0001948	Alkalosis	3106	HLA-B	ORPHA:36426
HP:0001948	Alkalosis	10320	IKZF1	ORPHA:36426
HP:0001948	Alkalosis	3758	KCNJ1	OMIM:241200
HP:0001948	Alkalosis	3766	KCNJ10	OMIM:612780
HP:0001948	Alkalosis	54938	SARS2	OMIM:613845
HP:0001948	Alkalosis	6340	SCNN1G	OMIM:618114
HP:0001948	Alkalosis	776	CACNA1D	ORPHA:369929
HP:0001948	Alkalosis	776	CACNA1D	OMIM:615474
HP:0001948	Alkalosis	6337	SCNN1A	OMIM:618126
HP:0001948	Alkalosis	2908	NR3C1	OMIM:615962
HP:0001948	Alkalosis	2908	NR3C1	ORPHA:786
HP:0001948	Alkalosis	79731	NARS2	OMIM:616239
HP:0001948	Alkalosis	3762	KCNJ5	ORPHA:251274
HP:0001948	Alkalosis	1181	CLCN2	ORPHA:404
HP:0001949	Hypokalemic alkalosis	6559	SLC12A3	OMIM:263800
HP:0001949	Hypokalemic alkalosis	6338	SCNN1B	OMIM:177200
HP:0001949	Hypokalemic alkalosis	1586	CYP17A1	OMIM:202110
HP:0001949	Hypokalemic alkalosis	3291	HSD11B2	ORPHA:320
HP:0001949	Hypokalemic alkalosis	6557	SLC12A1	OMIM:601678
HP:0001949	Hypokalemic alkalosis	7809	BSND	ORPHA:89938
HP:0001949	Hypokalemic alkalosis	1188	CLCNKB	ORPHA:89938
HP:0001949	Hypokalemic alkalosis	1188	CLCNKB	OMIM:607364
HP:0001949	Hypokalemic alkalosis	1187	CLCNKA	ORPHA:89938
HP:0001949	Hypokalemic alkalosis	3106	HLA-B	ORPHA:36426
HP:0001949	Hypokalemic alkalosis	10320	IKZF1	ORPHA:36426
HP:0001949	Hypokalemic alkalosis	3758	KCNJ1	OMIM:241200
HP:0001949	Hypokalemic alkalosis	3766	KCNJ10	OMIM:612780
HP:0001950	Respiratory alkalosis	763	CA5A	OMIM:615751
HP:0001950	Respiratory alkalosis	5009	OTC	OMIM:311250
HP:0001950	Respiratory alkalosis	435	ASL	OMIM:207900
HP:0001950	Respiratory alkalosis	445	ASS1	OMIM:215700
HP:0001950	Respiratory alkalosis	1373	CPS1	OMIM:237300
HP:0001950	Respiratory alkalosis	10166	SLC25A15	ORPHA:415
HP:0001951	Episodic ammonia intoxication	1373	CPS1	ORPHA:147
HP:0001951	Episodic ammonia intoxication	1373	CPS1	OMIM:237300
HP:0001951	Episodic ammonia intoxication	5009	OTC	OMIM:311250
HP:0001951	Episodic ammonia intoxication	435	ASL	OMIM:207900
HP:0001951	Episodic ammonia intoxication	445	ASS1	OMIM:215700
HP:0001952	Glucose intolerance	291	SLC25A4	ORPHA:254892
HP:0001952	Glucose intolerance	5428	POLG	ORPHA:254892
HP:0001952	Glucose intolerance	56652	TWNK	ORPHA:254892
HP:0001952	Glucose intolerance	56652	TWNK	OMIM:609286
HP:0001952	Glucose intolerance	50484	RRM2B	ORPHA:254892
HP:0001952	Glucose intolerance	1497	CTNS	OMIM:219800
HP:0001952	Glucose intolerance	54539	NDUFB11	ORPHA:2609
HP:0001952	Glucose intolerance	25915	NDUFAF3	ORPHA:2609
HP:0001952	Glucose intolerance	51103	NDUFAF1	ORPHA:2609
HP:0001952	Glucose intolerance	91942	NDUFAF2	ORPHA:2609
HP:0001952	Glucose intolerance	51300	TIMMDC1	ORPHA:2609
HP:0001952	Glucose intolerance	4716	NDUFB10	ORPHA:2609
HP:0001952	Glucose intolerance	4723	NDUFV1	ORPHA:2609
HP:0001952	Glucose intolerance	55572	FOXRED1	ORPHA:2609
HP:0001952	Glucose intolerance	284184	NDUFAF8	ORPHA:2609
HP:0001952	Glucose intolerance	55863	TMEM126B	ORPHA:2609
HP:0001952	Glucose intolerance	4537	MT-ND3	ORPHA:2609
HP:0001952	Glucose intolerance	4729	NDUFV2	ORPHA:2609
HP:0001952	Glucose intolerance	4694	NDUFA1	ORPHA:2609
HP:0001952	Glucose intolerance	4720	NDUFS2	ORPHA:2609
HP:0001952	Glucose intolerance	4724	NDUFS4	ORPHA:2609
HP:0001952	Glucose intolerance	4726	NDUFS6	ORPHA:2609
HP:0001952	Glucose intolerance	4728	NDUFS8	ORPHA:2609
HP:0001952	Glucose intolerance	4722	NDUFS3	ORPHA:2609
HP:0001952	Glucose intolerance	79133	NDUFAF5	ORPHA:2609
HP:0001952	Glucose intolerance	126328	NDUFA11	ORPHA:2609
HP:0001952	Glucose intolerance	4709	NDUFB3	ORPHA:2609
HP:0001952	Glucose intolerance	80224	NUBPL	ORPHA:2609
HP:0001952	Glucose intolerance	29078	NDUFAF4	ORPHA:2609
HP:0001952	Glucose intolerance	374291	NDUFS7	ORPHA:2609
HP:0001952	Glucose intolerance	4700	NDUFA6	ORPHA:2609
HP:0001952	Glucose intolerance	4536	MT-ND2	ORPHA:2609
HP:0001952	Glucose intolerance	4719	NDUFS1	ORPHA:2609
HP:0001952	Glucose intolerance	4715	NDUFB9	ORPHA:2609
HP:0001952	Glucose intolerance	81555	YIPF5	OMIM:619278
HP:0001952	Glucose intolerance	1356	CP	OMIM:604290
HP:0001952	Glucose intolerance	1356	CP	ORPHA:48818
HP:0001952	Glucose intolerance	55627	SMPD4	OMIM:618622
HP:0001952	Glucose intolerance	4508	MT-ATP6	ORPHA:320360
HP:0001952	Glucose intolerance	3123	HLA-DRB1	ORPHA:703
HP:0001952	Glucose intolerance	7068	THRB	OMIM:274300
HP:0001952	Glucose intolerance	256297	PTF1A	OMIM:609069
HP:0001952	Glucose intolerance	256297	PTF1A	OMIM:615935
HP:0001952	Glucose intolerance	60675	PROK2	OMIM:610628
HP:0001952	Glucose intolerance	2627	GATA6	OMIM:600001
HP:0001952	Glucose intolerance	197131	UBR1	OMIM:243800
HP:0001952	Glucose intolerance	197131	UBR1	ORPHA:2315
HP:0001952	Glucose intolerance	57104	PNPLA2	ORPHA:565612
HP:0001952	Glucose intolerance	57104	PNPLA2	OMIM:610717
HP:0001952	Glucose intolerance	57104	PNPLA2	ORPHA:98908
HP:0001952	Glucose intolerance	63916	ELMO2	ORPHA:3019
HP:0001952	Glucose intolerance	169792	GLIS3	OMIM:610199
HP:0001952	Glucose intolerance	472	ATM	OMIM:208900
HP:0001952	Glucose intolerance	472	ATM	ORPHA:100
HP:0001952	Glucose intolerance	10560	SLC19A2	ORPHA:49827
HP:0001952	Glucose intolerance	10560	SLC19A2	OMIM:249270
HP:0001952	Glucose intolerance	7486	WRN	OMIM:277700
HP:0001952	Glucose intolerance	348	APOE	ORPHA:412
HP:0001952	Glucose intolerance	134218	DNAJC21	ORPHA:811
HP:0001952	Glucose intolerance	79631	EFL1	ORPHA:811
HP:0001952	Glucose intolerance	51119	SBDS	ORPHA:811
HP:0001952	Glucose intolerance	6729	SRP54	ORPHA:811
HP:0001952	Glucose intolerance	10059	DNM1L	ORPHA:98673
HP:0001952	Glucose intolerance	4976	OPA1	ORPHA:98673
HP:0001952	Glucose intolerance	4976	OPA1	ORPHA:1215
HP:0001952	Glucose intolerance	4519	MT-CYB	OMIM:540000
HP:0001952	Glucose intolerance	4511	MT-TC	OMIM:540000
HP:0001952	Glucose intolerance	4566	MT-TK	OMIM:540000
HP:0001952	Glucose intolerance	4577	MT-TV	OMIM:540000
HP:0001952	Glucose intolerance	6638	SNRPN	ORPHA:177904
HP:0001952	Glucose intolerance	6638	SNRPN	ORPHA:177901
HP:0001952	Glucose intolerance	6638	SNRPN	ORPHA:98754
HP:0001952	Glucose intolerance	4692	NDN	ORPHA:177904
HP:0001952	Glucose intolerance	4692	NDN	ORPHA:177901
HP:0001952	Glucose intolerance	4692	NDN	ORPHA:98754
HP:0001952	Glucose intolerance	54551	MAGEL2	ORPHA:177904
HP:0001952	Glucose intolerance	54551	MAGEL2	ORPHA:177901
HP:0001952	Glucose intolerance	54551	MAGEL2	ORPHA:98754
HP:0001952	Glucose intolerance	4948	OCA2	ORPHA:177904
HP:0001952	Glucose intolerance	4948	OCA2	ORPHA:177901
HP:0001952	Glucose intolerance	4948	OCA2	ORPHA:98754
HP:0001952	Glucose intolerance	2332	FMR1	ORPHA:449291
HP:0001952	Glucose intolerance	5468	PPARG	ORPHA:79083
HP:0001952	Glucose intolerance	5468	PPARG	ORPHA:528
HP:0001952	Glucose intolerance	3376	IARS1	ORPHA:541423
HP:0001952	Glucose intolerance	3953	LEPR	OMIM:614963
HP:0001952	Glucose intolerance	84100	ARL6	OMIM:209900
HP:0001952	Glucose intolerance	79140	CCDC28B	OMIM:209900
HP:0001952	Glucose intolerance	582	BBS1	OMIM:209900
HP:0001952	Glucose intolerance	83550	GPR101	ORPHA:963
HP:0001952	Glucose intolerance	84133	ZNRF3	ORPHA:1501
HP:0001952	Glucose intolerance	5573	PRKAR1A	ORPHA:1501
HP:0001952	Glucose intolerance	5573	PRKAR1A	ORPHA:189439
HP:0001952	Glucose intolerance	5573	PRKAR1A	ORPHA:280651
HP:0001952	Glucose intolerance	1499	CTNNB1	ORPHA:1501
HP:0001952	Glucose intolerance	1029	CDKN2A	ORPHA:1501
HP:0001952	Glucose intolerance	1029	CDKN2A	ORPHA:1333
HP:0001952	Glucose intolerance	7015	TERT	ORPHA:1501
HP:0001952	Glucose intolerance	7015	TERT	ORPHA:1775
HP:0001952	Glucose intolerance	10555	AGPAT2	OMIM:608594
HP:0001952	Glucose intolerance	10555	AGPAT2	ORPHA:528
HP:0001952	Glucose intolerance	7274	TTPA	ORPHA:96
HP:0001952	Glucose intolerance	8091	HMGA2	ORPHA:94063
HP:0001952	Glucose intolerance	23592	LEMD3	ORPHA:94063
HP:0001952	Glucose intolerance	51651	PTRH2	ORPHA:456312
HP:0001952	Glucose intolerance	51651	PTRH2	OMIM:616263
HP:0001952	Glucose intolerance	2992	GYG1	ORPHA:263297
HP:0001952	Glucose intolerance	5424	POLD1	OMIM:615381
HP:0001952	Glucose intolerance	26060	APPL1	OMIM:616511
HP:0001952	Glucose intolerance	672	BRCA1	ORPHA:1333
HP:0001952	Glucose intolerance	285282	RABL3	ORPHA:1333
HP:0001952	Glucose intolerance	675	BRCA2	ORPHA:1333
HP:0001952	Glucose intolerance	3845	KRAS	ORPHA:1333
HP:0001952	Glucose intolerance	79728	PALB2	ORPHA:1333
HP:0001952	Glucose intolerance	4089	SMAD4	ORPHA:1333
HP:0001952	Glucose intolerance	23022	PALLD	ORPHA:1333
HP:0001952	Glucose intolerance	5144	PDE4D	OMIM:614613
HP:0001952	Glucose intolerance	5144	PDE4D	ORPHA:280651
HP:0001952	Glucose intolerance	57817	HAMP	ORPHA:79230
HP:0001952	Glucose intolerance	148738	HJV	ORPHA:79230
HP:0001952	Glucose intolerance	8195	MKKS	OMIM:605231
HP:0001952	Glucose intolerance	2697	GJA1	ORPHA:317
HP:0001952	Glucose intolerance	2707	GJB3	ORPHA:317
HP:0001952	Glucose intolerance	2531	KDSR	ORPHA:317
HP:0001952	Glucose intolerance	127534	GJB4	ORPHA:317
HP:0001952	Glucose intolerance	2395	FXN	ORPHA:95
HP:0001952	Glucose intolerance	2395	FXN	OMIM:229300
HP:0001952	Glucose intolerance	165	AEBP1	ORPHA:536532
HP:0001952	Glucose intolerance	11330	CTRC	ORPHA:676
HP:0001952	Glucose intolerance	11330	CTRC	OMIM:167800
HP:0001952	Glucose intolerance	5644	PRSS1	ORPHA:676
HP:0001952	Glucose intolerance	5644	PRSS1	OMIM:167800
HP:0001952	Glucose intolerance	5645	PRSS2	ORPHA:676
HP:0001952	Glucose intolerance	5645	PRSS2	OMIM:167800
HP:0001952	Glucose intolerance	6690	SPINK1	ORPHA:676
HP:0001952	Glucose intolerance	6690	SPINK1	OMIM:167800
HP:0001952	Glucose intolerance	846	CASR	ORPHA:676
HP:0001952	Glucose intolerance	1080	CFTR	ORPHA:676
HP:0001952	Glucose intolerance	1080	CFTR	OMIM:167800
HP:0001952	Glucose intolerance	1357	CPA1	ORPHA:676
HP:0001952	Glucose intolerance	3077	HFE	OMIM:235200
HP:0001952	Glucose intolerance	3077	HFE	ORPHA:465508
HP:0001952	Glucose intolerance	650	BMP2	OMIM:235200
HP:0001952	Glucose intolerance	3975	LHX1	ORPHA:261265
HP:0001952	Glucose intolerance	3043	HBB	ORPHA:231214
HP:0001952	Glucose intolerance	3043	HBB	ORPHA:231222
HP:0001952	Glucose intolerance	3043	HBB	ORPHA:231226
HP:0001952	Glucose intolerance	5566	PRKACA	OMIM:615830
HP:0001952	Glucose intolerance	5566	PRKACA	ORPHA:189439
HP:0001952	Glucose intolerance	222546	RFX6	OMIM:615710
HP:0001952	Glucose intolerance	8622	PDE8B	ORPHA:189439
HP:0001952	Glucose intolerance	50940	PDE11A	ORPHA:189439
HP:0001952	Glucose intolerance	5189	PEX1	ORPHA:3220
HP:0001952	Glucose intolerance	5190	PEX6	ORPHA:3220
HP:0001952	Glucose intolerance	493856	CISD2	ORPHA:3463
HP:0001952	Glucose intolerance	493856	CISD2	OMIM:604928
HP:0001952	Glucose intolerance	79759	ZNF668	OMIM:620194
HP:0001952	Glucose intolerance	26137	ZBTB20	OMIM:259050
HP:0001952	Glucose intolerance	5244	ABCB4	ORPHA:69663
HP:0001952	Glucose intolerance	2642	GCGR	ORPHA:438274
HP:0001952	Glucose intolerance	27086	FOXP1	ORPHA:391372
HP:0001952	Glucose intolerance	51124	IER3IP1	OMIM:614231
HP:0001952	Glucose intolerance	93587	TRMT10A	ORPHA:391408
HP:0001952	Glucose intolerance	93587	TRMT10A	OMIM:616033
HP:0001952	Glucose intolerance	84919	PPP1R15B	ORPHA:391408
HP:0001952	Glucose intolerance	51085	MLXIPL	OMIM:194050
HP:0001952	Glucose intolerance	2006	ELN	OMIM:194050
HP:0001952	Glucose intolerance	4205	MEF2A	OMIM:608320
HP:0001952	Glucose intolerance	4854	NOTCH3	ORPHA:136
HP:0001952	Glucose intolerance	5295	PIK3R1	ORPHA:3163
HP:0001952	Glucose intolerance	7518	XRCC4	OMIM:616541
HP:0001952	Glucose intolerance	2625	GATA3	ORPHA:2237
HP:0001952	Glucose intolerance	3172	HNF4A	OMIM:616026
HP:0001952	Glucose intolerance	5879	RAC1	ORPHA:500159
HP:0001952	Glucose intolerance	654	BMP6	ORPHA:465508
HP:0001952	Glucose intolerance	5078	PAX4	OMIM:612227
HP:0001952	Glucose intolerance	1968	EIF2S3	ORPHA:85282
HP:0001952	Glucose intolerance	2303	FOXC2	ORPHA:33001
HP:0001952	Glucose intolerance	4693	NDP	ORPHA:649
HP:0001952	Glucose intolerance	284119	CAVIN1	ORPHA:528
HP:0001952	Glucose intolerance	26580	BSCL2	ORPHA:528
HP:0001952	Glucose intolerance	2353	FOS	ORPHA:528
HP:0001952	Glucose intolerance	3514	IGKC	ORPHA:183675
HP:0001952	Glucose intolerance	3501	IGHG2	ORPHA:183675
HP:0001952	Glucose intolerance	641	BLM	ORPHA:125
HP:0001952	Glucose intolerance	80067	DCAF17	OMIM:241080
HP:0001952	Glucose intolerance	26191	PTPN22	OMIM:222100
HP:0001952	Glucose intolerance	3710	ITPR3	OMIM:222100
HP:0001952	Glucose intolerance	3569	IL6	OMIM:222100
HP:0001952	Glucose intolerance	3991	LIPE	OMIM:615980
HP:0001952	Glucose intolerance	23503	ZFYVE26	ORPHA:100996
HP:0001952	Glucose intolerance	583	BBS2	OMIM:615981
HP:0001952	Glucose intolerance	84823	LMNB2	OMIM:608709
HP:0001952	Glucose intolerance	80169	CTC1	ORPHA:1775
HP:0001952	Glucose intolerance	26277	TINF2	ORPHA:1775
HP:0001952	Glucose intolerance	55651	NHP2	ORPHA:1775
HP:0001952	Glucose intolerance	79650	USB1	ORPHA:1775
HP:0001952	Glucose intolerance	55135	WRAP53	ORPHA:1775
HP:0001952	Glucose intolerance	51750	RTEL1	ORPHA:1775
HP:0001952	Glucose intolerance	4869	NPM1	ORPHA:1775
HP:0001952	Glucose intolerance	7012	TERC	ORPHA:1775
HP:0001952	Glucose intolerance	55505	NOP10	ORPHA:1775
HP:0001952	Glucose intolerance	5073	PARN	ORPHA:1775
HP:0001952	Glucose intolerance	1736	DKC1	ORPHA:1775
HP:0001952	Glucose intolerance	7298	TYMS	ORPHA:1775
HP:0001952	Glucose intolerance	116519	APOA5	OMIM:144650
HP:0001952	Glucose intolerance	54938	SARS2	OMIM:613845
HP:0001952	Glucose intolerance	25886	POC1A	OMIM:614813
HP:0001952	Glucose intolerance	3480	IGF1R	OMIM:270450
HP:0001952	Glucose intolerance	10535	RNASEH2A	ORPHA:51
HP:0001952	Glucose intolerance	84153	RNASEH2C	ORPHA:51
HP:0001952	Glucose intolerance	25939	SAMHD1	ORPHA:51
HP:0001952	Glucose intolerance	79621	RNASEH2B	ORPHA:51
HP:0001952	Glucose intolerance	103	ADAR	ORPHA:51
HP:0001952	Glucose intolerance	11277	TREX1	ORPHA:51
HP:0001952	Glucose intolerance	100147744	RNU7-1	ORPHA:51
HP:0001952	Glucose intolerance	134353	LSM11	ORPHA:51
HP:0001952	Glucose intolerance	64135	IFIH1	ORPHA:51
HP:0001952	Glucose intolerance	10269	ZMPSTE24	OMIM:608612
HP:0001952	Glucose intolerance	10367	MICU1	ORPHA:401768
HP:0001952	Glucose intolerance	63924	CIDEC	ORPHA:435651
HP:0001952	Glucose intolerance	3952	LEP	ORPHA:66628
HP:0001952	Glucose intolerance	5346	PLIN1	ORPHA:280356
HP:0001952	Glucose intolerance	64324	NSD1	OMIM:117550
HP:0001952	Glucose intolerance	212	ALAS2	ORPHA:75563
HP:0001952	Glucose intolerance	10651	MTX2	OMIM:619127
HP:0001952	Glucose intolerance	79798	ARMC5	ORPHA:189427
HP:0001952	Glucose intolerance	2778	GNAS	ORPHA:189427
HP:0001952	Glucose intolerance	57570	TRMT5	OMIM:616539
HP:0001952	Glucose intolerance	7490	WT1	OMIM:106210
HP:0001952	Glucose intolerance	5080	PAX6	OMIM:106210
HP:0001952	Glucose intolerance	388015	RTL1	ORPHA:96184
HP:0001952	Glucose intolerance	388015	RTL1	ORPHA:254531
HP:0001952	Glucose intolerance	8788	DLK1	ORPHA:96184
HP:0001952	Glucose intolerance	8788	DLK1	ORPHA:254531
HP:0001952	Glucose intolerance	55384	MEG3	ORPHA:96184
HP:0001952	Glucose intolerance	55384	MEG3	ORPHA:254531
HP:0001952	Glucose intolerance	5092	PCBD1	ORPHA:1578
HP:0001952	Glucose intolerance	6523	SLC5A1	OMIM:606824
HP:0001952	Glucose intolerance	6524	SLC5A2	ORPHA:69076
HP:0001952	Glucose intolerance	7840	ALMS1	ORPHA:64
HP:0001952	Glucose intolerance	92840	REEP6	ORPHA:791
HP:0001952	Glucose intolerance	6094	ROM1	ORPHA:791
HP:0001952	Glucose intolerance	6017	RLBP1	ORPHA:791
HP:0001952	Glucose intolerance	7401	CLRN1	ORPHA:791
HP:0001952	Glucose intolerance	24	ABCA4	ORPHA:791
HP:0001952	Glucose intolerance	130557	ZNF513	ORPHA:791
HP:0001952	Glucose intolerance	92211	CDHR1	ORPHA:791
HP:0001952	Glucose intolerance	23568	ARL2BP	ORPHA:791
HP:0001952	Glucose intolerance	6121	RPE65	ORPHA:791
HP:0001952	Glucose intolerance	54806	AHI1	ORPHA:791
HP:0001952	Glucose intolerance	6101	RP1	ORPHA:791
HP:0001952	Glucose intolerance	3419	IDH3A	ORPHA:791
HP:0001952	Glucose intolerance	4751	NEK2	ORPHA:791
HP:0001952	Glucose intolerance	346007	EYS	ORPHA:791
HP:0001952	Glucose intolerance	8100	IFT88	ORPHA:791
HP:0001952	Glucose intolerance	23020	SNRNP200	ORPHA:791
HP:0001952	Glucose intolerance	762	CA4	ORPHA:791
HP:0001952	Glucose intolerance	138050	HGSNAT	ORPHA:791
HP:0001952	Glucose intolerance	196	AHR	ORPHA:791
HP:0001952	Glucose intolerance	3614	IMPDH1	ORPHA:791
HP:0001952	Glucose intolerance	123016	TTC8	ORPHA:791
HP:0001952	Glucose intolerance	6103	RPGR	ORPHA:791
HP:0001952	Glucose intolerance	1406	CRX	ORPHA:791
HP:0001952	Glucose intolerance	5148	PDE6G	ORPHA:791
HP:0001952	Glucose intolerance	26121	PRPF31	ORPHA:791
HP:0001952	Glucose intolerance	4117	MAK	ORPHA:791
HP:0001952	Glucose intolerance	25794	FSCN2	ORPHA:791
HP:0001952	Glucose intolerance	375298	CERKL	ORPHA:791
HP:0001952	Glucose intolerance	3420	IDH3B	ORPHA:791
HP:0001952	Glucose intolerance	57670	KIAA1549	ORPHA:791
HP:0001952	Glucose intolerance	7275	TUB	ORPHA:791
HP:0001952	Glucose intolerance	24148	PRPF6	ORPHA:791
HP:0001952	Glucose intolerance	23418	CRB1	ORPHA:791
HP:0001952	Glucose intolerance	10461	MERTK	ORPHA:791
HP:0001952	Glucose intolerance	57709	SLC7A14	ORPHA:791
HP:0001952	Glucose intolerance	768206	PRCD	ORPHA:791
HP:0001952	Glucose intolerance	7399	USH2A	ORPHA:791
HP:0001952	Glucose intolerance	23370	ARHGEF18	ORPHA:791
HP:0001952	Glucose intolerance	5949	RBP3	ORPHA:791
HP:0001952	Glucose intolerance	6010	RHO	ORPHA:791
HP:0001952	Glucose intolerance	6100	RP9	ORPHA:791
HP:0001952	Glucose intolerance	10002	NR2E3	ORPHA:791
HP:0001952	Glucose intolerance	9227	LRAT	ORPHA:791
HP:0001952	Glucose intolerance	84140	FAM161A	ORPHA:791
HP:0001952	Glucose intolerance	55812	SPATA7	ORPHA:791
HP:0001952	Glucose intolerance	55624	POMGNT1	ORPHA:791
HP:0001952	Glucose intolerance	79797	ZNF408	ORPHA:791
HP:0001952	Glucose intolerance	403	ARL3	ORPHA:791
HP:0001952	Glucose intolerance	5145	PDE6A	ORPHA:791
HP:0001952	Glucose intolerance	10210	TOPORS	ORPHA:791
HP:0001952	Glucose intolerance	8842	PROM1	ORPHA:791
HP:0001952	Glucose intolerance	9128	PRPF4	ORPHA:791
HP:0001952	Glucose intolerance	145226	RDH12	ORPHA:791
HP:0001952	Glucose intolerance	50939	IMPG2	ORPHA:791
HP:0001952	Glucose intolerance	8481	OFD1	ORPHA:791
HP:0001952	Glucose intolerance	49855	SCAPER	ORPHA:791
HP:0001952	Glucose intolerance	9742	IFT140	ORPHA:791
HP:0001952	Glucose intolerance	2979	GUCA1B	ORPHA:791
HP:0001952	Glucose intolerance	1259	CNGA1	ORPHA:791
HP:0001952	Glucose intolerance	1258	CNGB1	ORPHA:791
HP:0001952	Glucose intolerance	60509	AGBL5	ORPHA:791
HP:0001952	Glucose intolerance	5961	PRPH2	ORPHA:791
HP:0001952	Glucose intolerance	388939	PCARE	ORPHA:791
HP:0001952	Glucose intolerance	7439	BEST1	ORPHA:791
HP:0001952	Glucose intolerance	9785	DHX38	ORPHA:791
HP:0001952	Glucose intolerance	7287	TULP1	ORPHA:791
HP:0001952	Glucose intolerance	5995	RGR	ORPHA:791
HP:0001952	Glucose intolerance	9129	PRPF3	ORPHA:791
HP:0001952	Glucose intolerance	55975	KLHL7	ORPHA:791
HP:0001952	Glucose intolerance	3617	IMPG1	ORPHA:791
HP:0001952	Glucose intolerance	94137	RP1L1	ORPHA:791
HP:0001952	Glucose intolerance	5158	PDE6B	ORPHA:791
HP:0001952	Glucose intolerance	6102	RP2	ORPHA:791
HP:0001952	Glucose intolerance	55857	KIZ	ORPHA:791
HP:0001952	Glucose intolerance	64218	SEMA4A	ORPHA:791
HP:0001952	Glucose intolerance	4901	NRL	ORPHA:791
HP:0001952	Glucose intolerance	157657	CFAP418	ORPHA:791
HP:0001952	Glucose intolerance	10594	PRPF8	ORPHA:791
HP:0001952	Glucose intolerance	6295	SAG	ORPHA:791
HP:0001952	Glucose intolerance	79947	DHDDS	ORPHA:791
HP:0001952	Glucose intolerance	63036	CELA2A	OMIM:618620
HP:0001952	Glucose intolerance	4160	MC4R	ORPHA:71529
HP:0001952	Glucose intolerance	10908	PNPLA6	ORPHA:2377
HP:0001952	Glucose intolerance	6804	STX1A	ORPHA:904
HP:0001952	Glucose intolerance	7461	CLIP2	ORPHA:904
HP:0001952	Glucose intolerance	84277	DNAJC30	ORPHA:904
HP:0001952	Glucose intolerance	8468	FKBP6	ORPHA:904
HP:0001952	Glucose intolerance	5982	RFC2	ORPHA:904
HP:0001952	Glucose intolerance	2969	GTF2I	ORPHA:904
HP:0001952	Glucose intolerance	3984	LIMK1	ORPHA:904
HP:0001952	Glucose intolerance	9569	GTF2IRD1	ORPHA:904
HP:0001952	Glucose intolerance	155382	VPS37D	ORPHA:904
HP:0001952	Glucose intolerance	155368	METTL27	ORPHA:904
HP:0001952	Glucose intolerance	114049	BUD23	ORPHA:904
HP:0001952	Glucose intolerance	7458	EIF4H	ORPHA:904
HP:0001952	Glucose intolerance	84163	GTF2IRD2	ORPHA:904
HP:0001952	Glucose intolerance	9275	BCL7B	ORPHA:904
HP:0001952	Glucose intolerance	26608	TBL2	ORPHA:904
HP:0001952	Glucose intolerance	653361	NCF1	ORPHA:904
HP:0001952	Glucose intolerance	135886	TMEM270	ORPHA:904
HP:0001952	Glucose intolerance	9031	BAZ1B	ORPHA:904
HP:0001952	Glucose intolerance	3981	LIG4	ORPHA:99812
HP:0001952	Glucose intolerance	3981	LIG4	OMIM:606593
HP:0001952	Glucose intolerance	7681	MKRN3	OMIM:176270
HP:0001952	Glucose intolerance	3653	IPW	OMIM:176270
HP:0001952	Glucose intolerance	791114	PWRN1	OMIM:176270
HP:0001952	Glucose intolerance	100033413	SNORD116-1	OMIM:176270
HP:0001952	Glucose intolerance	8924	HERC2	OMIM:176270
HP:0001952	Glucose intolerance	145624	PWAR1	OMIM:176270
HP:0001952	Glucose intolerance	23742	NPAP1	OMIM:176270
HP:0001952	Glucose intolerance	338433	SNORD115-1	OMIM:176270
HP:0001952	Glucose intolerance	7555	CNBP	OMIM:602668
HP:0001952	Glucose intolerance	6934	TCF7L2	OMIM:125853
HP:0001952	Glucose intolerance	3990	LIPC	OMIM:125853
HP:0001952	Glucose intolerance	9479	MAPK8IP1	OMIM:125853
HP:0001952	Glucose intolerance	56729	RETN	OMIM:125853
HP:0001952	Glucose intolerance	4544	MTNR1B	OMIM:125853
HP:0001952	Glucose intolerance	5506	PPP1R3A	OMIM:125853
HP:0001952	Glucose intolerance	208	AKT2	OMIM:125853
HP:0001952	Glucose intolerance	10644	IGF2BP2	OMIM:125853
HP:0001952	Glucose intolerance	5167	ENPP1	OMIM:125853
HP:0001952	Glucose intolerance	5770	PTPN1	OMIM:125853
HP:0001952	Glucose intolerance	8660	IRS2	OMIM:125853
HP:0001952	Glucose intolerance	3159	HMGA1	OMIM:125853
HP:0001952	Glucose intolerance	3667	IRS1	OMIM:125853
HP:0001952	Glucose intolerance	169026	SLC30A8	OMIM:125853
HP:0001952	Glucose intolerance	2820	GPD2	OMIM:125853
HP:0001952	Glucose intolerance	6492	SIM1	ORPHA:398079
HP:0001952	Glucose intolerance	1363	CPE	OMIM:619326
HP:0001952	Glucose intolerance	23600	AMACR	ORPHA:79095
HP:0001952	Glucose intolerance	5422	POLA1	ORPHA:163976
HP:0001952	Glucose intolerance	4221	MEN1	ORPHA:99725
HP:0001952	Glucose intolerance	1786	DNMT1	OMIM:604121
HP:0001952	Glucose intolerance	11128	POLR3A	ORPHA:3455
HP:0001952	Glucose intolerance	51218	GLRX5	OMIM:616860
HP:0001952	Glucose intolerance	2200	FBN1	ORPHA:2833
HP:0001952	Glucose intolerance	9149	DYRK1B	OMIM:615812
HP:0001952	Glucose intolerance	367	AR	ORPHA:481
HP:0001952	Glucose intolerance	4340	MOG	OMIM:614250
HP:0001952	Glucose intolerance	833	CARS1	OMIM:618891
HP:0001952	Glucose intolerance	64788	LMF1	OMIM:246650
HP:0001952	Glucose intolerance	5333	PLCD1	ORPHA:2387
HP:0001952	Glucose intolerance	84984	CEP19	OMIM:615703
HP:0001952	Glucose intolerance	5116	PCNT	OMIM:210720
HP:0001952	Glucose intolerance	25942	SIN3A	OMIM:613406
HP:0001952	Glucose intolerance	5192	PEX10	ORPHA:247815
HP:0001952	Glucose intolerance	1588	CYP19A1	ORPHA:91
HP:0001952	Glucose intolerance	8462	KLF11	ORPHA:552
HP:0001952	Glucose intolerance	640	BLK	ORPHA:552
HP:0001952	Glucose intolerance	1056	CEL	ORPHA:552
HP:0001952	Glucose intolerance	4760	NEUROD1	ORPHA:552
HP:0001952	Glucose intolerance	3651	PDX1	ORPHA:552
HP:0001952	Glucose intolerance	57061	HYMAI	OMIM:601410
HP:0001952	Glucose intolerance	57061	HYMAI	ORPHA:99886
HP:0001952	Glucose intolerance	346171	ZFP57	OMIM:601410
HP:0001952	Glucose intolerance	346171	ZFP57	ORPHA:99886
HP:0001952	Glucose intolerance	5325	PLAGL1	ORPHA:99886
HP:0001952	Glucose intolerance	2260	FGFR1	ORPHA:280200
HP:0001952	Glucose intolerance	2260	FGFR1	ORPHA:3157
HP:0001952	Glucose intolerance	28514	DLL1	ORPHA:280200
HP:0001952	Glucose intolerance	2253	FGF8	ORPHA:280200
HP:0001952	Glucose intolerance	6496	SIX3	ORPHA:280200
HP:0001952	Glucose intolerance	7050	TGIF1	ORPHA:280200
HP:0001952	Glucose intolerance	4838	NODAL	ORPHA:280200
HP:0001952	Glucose intolerance	6469	SHH	ORPHA:280200
HP:0001952	Glucose intolerance	51684	SUFU	ORPHA:280200
HP:0001952	Glucose intolerance	7546	ZIC2	ORPHA:280200
HP:0001952	Glucose intolerance	2619	GAS1	ORPHA:280200
HP:0001952	Glucose intolerance	84976	DISP1	ORPHA:280200
HP:0001952	Glucose intolerance	2736	GLI2	ORPHA:280200
HP:0001952	Glucose intolerance	8928	FOXH1	ORPHA:280200
HP:0001952	Glucose intolerance	5727	PTCH1	ORPHA:280200
HP:0001952	Glucose intolerance	50937	CDON	ORPHA:280200
HP:0001952	Glucose intolerance	2215	FCGR3B	ORPHA:464370
HP:0001952	Glucose intolerance	8260	NAA10	OMIM:300855
HP:0001952	Glucose intolerance	81839	VANGL1	ORPHA:3027
HP:0001952	Glucose intolerance	80199	FUZ	ORPHA:3027
HP:0001952	Glucose intolerance	4524	MTHFR	ORPHA:563612
HP:0001952	Glucose intolerance	4524	MTHFR	ORPHA:563609
HP:0001952	Glucose intolerance	57216	VANGL2	ORPHA:563612
HP:0001952	Glucose intolerance	57216	VANGL2	ORPHA:563609
HP:0001952	Glucose intolerance	1482	NKX2-5	ORPHA:2248
HP:0001952	Glucose intolerance	128674	PROKR2	ORPHA:3157
HP:0001952	Glucose intolerance	6657	SOX2	ORPHA:3157
HP:0001952	Glucose intolerance	6658	SOX3	ORPHA:3157
HP:0001952	Glucose intolerance	9915	ARNT2	ORPHA:3157
HP:0001952	Glucose intolerance	8820	HESX1	ORPHA:3157
HP:0001952	Glucose intolerance	5015	OTX2	ORPHA:3157
HP:0001952	Glucose intolerance	1280	COL2A1	ORPHA:93346
HP:0001952	Glucose intolerance	857	CAV1	OMIM:606721
HP:0001952	Glucose intolerance	84196	USP48	ORPHA:96253
HP:0001952	Glucose intolerance	7157	TP53	ORPHA:96253
HP:0001952	Glucose intolerance	9101	USP8	ORPHA:96253
HP:0001952	Glucose intolerance	9101	USP8	OMIM:219090
HP:0001952	Glucose intolerance	64072	CDH23	ORPHA:96253
HP:0001952	Glucose intolerance	2908	NR3C1	ORPHA:96253
HP:0001952	Glucose intolerance	673	BRAF	ORPHA:96253
HP:0001952	Glucose intolerance	546	ATRX	ORPHA:96253
HP:0001952	Glucose intolerance	286053	NSMCE2	OMIM:617253
HP:0001952	Glucose intolerance	6928	HNF1B	OMIM:137920
HP:0001952	Glucose intolerance	7466	WFS1	OMIM:614296
HP:0001952	Glucose intolerance	2099	ESR1	OMIM:615363
HP:0001952	Glucose intolerance	11232	POLG2	OMIM:610131
HP:0001952	Glucose intolerance	26160	IFT172	OMIM:615630
HP:0001952	Glucose intolerance	389692	MAFA	OMIM:147630
HP:0001952	Glucose intolerance	9049	AIP	OMIM:219090
HP:0001952	Glucose intolerance	4000	LMNA	OMIM:248370
HP:0001952	Glucose intolerance	6514	SLC2A2	ORPHA:2088
HP:0001952	Glucose intolerance	3643	INSR	ORPHA:769
HP:0001952	Glucose intolerance	5696	PSMB8	OMIM:256040
HP:0001952	Glucose intolerance	30061	SLC40A1	OMIM:606069
HP:0001952	Glucose intolerance	4040	LRP6	OMIM:610947
HP:0001952	Glucose intolerance	4558	MT-TF	ORPHA:550
HP:0001952	Glucose intolerance	4572	MT-TQ	ORPHA:550
HP:0001952	Glucose intolerance	4512	MT-CO1	ORPHA:550
HP:0001952	Glucose intolerance	4513	MT-CO2	ORPHA:550
HP:0001952	Glucose intolerance	4514	MT-CO3	ORPHA:550
HP:0001952	Glucose intolerance	4578	MT-TW	ORPHA:550
HP:0001952	Glucose intolerance	4540	MT-ND5	ORPHA:550
HP:0001952	Glucose intolerance	4541	MT-ND6	ORPHA:550
HP:0001952	Glucose intolerance	4535	MT-ND1	ORPHA:550
HP:0001952	Glucose intolerance	4538	MT-ND4	ORPHA:550
HP:0001952	Glucose intolerance	4567	MT-TL1	ORPHA:550
HP:0001952	Glucose intolerance	4574	MT-TS1	ORPHA:550
HP:0001952	Glucose intolerance	4575	MT-TS2	ORPHA:550
HP:0001952	Glucose intolerance	4564	MT-TH	ORPHA:550
HP:0001952	Glucose intolerance	6772	STAT1	ORPHA:391487
HP:0001952	Glucose intolerance	10043	TOM1	ORPHA:391487
HP:0001952	Glucose intolerance	23019	CNOT1	OMIM:618500
HP:0001952	Glucose intolerance	10068	IL18BP	OMIM:618549
HP:0001952	Glucose intolerance	6774	STAT3	OMIM:615952
HP:0001952	Glucose intolerance	6927	HNF1A	OMIM:612520
HP:0001952	Glucose intolerance	2321	FLT1	ORPHA:275555
HP:0001952	Glucose intolerance	219736	STOX1	ORPHA:275555
HP:0001952	Glucose intolerance	10699	CORIN	ORPHA:275555
HP:0001952	Glucose intolerance	987	LRBA	OMIM:614700
HP:0001952	Glucose intolerance	50943	FOXP3	OMIM:304790
HP:0001952	Glucose intolerance	50943	FOXP3	ORPHA:37042
HP:0001952	Glucose intolerance	55315	SLC29A3	OMIM:602782
HP:0001952	Glucose intolerance	60401	EDA2R	ORPHA:181
HP:0001952	Glucose intolerance	1896	EDA	ORPHA:181
HP:0001952	Glucose intolerance	83737	ITCH	OMIM:613385
HP:0001952	Glucose intolerance	83737	ITCH	ORPHA:228426
HP:0001952	Glucose intolerance	84340	GFM2	OMIM:618397
HP:0001952	Glucose intolerance	50674	NEUROG3	ORPHA:83620
HP:0001952	Glucose intolerance	3630	INS	OMIM:125852
HP:0001952	Glucose intolerance	3630	INS	OMIM:618858
HP:0001952	Glucose intolerance	51816	ADA2	OMIM:615688
HP:0001952	Glucose intolerance	2542	SLC37A4	OMIM:619525
HP:0001952	Glucose intolerance	6833	ABCC8	ORPHA:276575
HP:0001952	Glucose intolerance	6833	ABCC8	OMIM:618857
HP:0001952	Glucose intolerance	7086	TKT	ORPHA:488618
HP:0001952	Glucose intolerance	3767	KCNJ11	ORPHA:276580
HP:0001952	Glucose intolerance	3767	KCNJ11	OMIM:618856
HP:0001952	Glucose intolerance	2859	GPR35	ORPHA:171
HP:0001952	Glucose intolerance	10507	SEMA4D	ORPHA:171
HP:0001952	Glucose intolerance	4485	MST1	ORPHA:171
HP:0001952	Glucose intolerance	6925	TCF4	ORPHA:171
HP:0001952	Glucose intolerance	326	AIRE	OMIM:240300
HP:0001952	Glucose intolerance	1777	DNASE2	OMIM:619858
HP:0001952	Glucose intolerance	10273	STUB1	ORPHA:412057
HP:0001952	Glucose intolerance	284252	KCTD1	ORPHA:2036
HP:0001952	Glucose intolerance	5297	PI4KA	ORPHA:436252
HP:0001952	Glucose intolerance	57217	TTC7A	ORPHA:436252
HP:0001952	Glucose intolerance	847	CAT	ORPHA:926
HP:0001952	Glucose intolerance	3117	HLA-DQA1	OMIM:212750
HP:0001952	Glucose intolerance	3119	HLA-DQB1	OMIM:212750
HP:0001952	Glucose intolerance	9570	GOSR2	OMIM:620166
HP:0001952	Glucose intolerance	4556	MT-TE	ORPHA:2596
HP:0001952	Glucose intolerance	1854	DUT	OMIM:620044
HP:0001952	Glucose intolerance	2645	GCK	OMIM:606176
HP:0001952	Glucose intolerance	51311	TLR8	OMIM:301078
HP:0001952	Glucose intolerance	4313	MMP2	ORPHA:371428
HP:0001952	Glucose intolerance	4323	MMP14	ORPHA:371428
HP:0001952	Glucose intolerance	5611	DNAJC3	OMIM:616192
HP:0001952	Glucose intolerance	375056	MIA3	OMIM:619269
HP:0001952	Glucose intolerance	9451	EIF2AK3	OMIM:226980
HP:0001952	Glucose intolerance	23312	DMXL2	OMIM:616113
HP:0001952	Glucose intolerance	9051	PSTPIP1	ORPHA:69126
HP:0001952	Glucose intolerance	6688	SPI1	OMIM:619707
HP:0001952	Glucose intolerance	3559	IL2RA	OMIM:606367
HP:0001952	Glucose intolerance	1188	CLCNKB	ORPHA:358
HP:0001952	Glucose intolerance	6559	SLC12A3	ORPHA:358
HP:0001955	Unexplained fevers	3909	LAMA3	ORPHA:79404
HP:0001955	Unexplained fevers	3918	LAMC2	ORPHA:79404
HP:0001955	Unexplained fevers	3914	LAMB3	ORPHA:79404
HP:0001955	Unexplained fevers	4914	NTRK1	ORPHA:642
HP:0001955	Unexplained fevers	359	AQP2	OMIM:125800
HP:0001955	Unexplained fevers	55858	TMEM165	OMIM:614727
HP:0001955	Unexplained fevers	2581	GALC	ORPHA:206436
HP:0001955	Unexplained fevers	5660	PSAP	ORPHA:206436
HP:0001955	Unexplained fevers	10535	RNASEH2A	ORPHA:51
HP:0001955	Unexplained fevers	84153	RNASEH2C	ORPHA:51
HP:0001955	Unexplained fevers	25939	SAMHD1	ORPHA:51
HP:0001955	Unexplained fevers	79621	RNASEH2B	ORPHA:51
HP:0001955	Unexplained fevers	103	ADAR	ORPHA:51
HP:0001955	Unexplained fevers	11277	TREX1	ORPHA:51
HP:0001955	Unexplained fevers	100147744	RNU7-1	ORPHA:51
HP:0001955	Unexplained fevers	134353	LSM11	ORPHA:51
HP:0001955	Unexplained fevers	64135	IFIH1	ORPHA:51
HP:0001955	Unexplained fevers	54675	CRLS1	OMIM:620167
HP:0001955	Unexplained fevers	7080	NKX2-1	ORPHA:209905
HP:0001955	Unexplained fevers	554	AVPR2	OMIM:304800
HP:0001958	Nonketotic hypoglycemia	1376	CPT2	OMIM:608836
HP:0001958	Nonketotic hypoglycemia	3155	HMGCL	ORPHA:20
HP:0001958	Nonketotic hypoglycemia	208	AKT2	ORPHA:293964
HP:0001958	Nonketotic hypoglycemia	5979	RET	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	8516	ITGA8	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	26281	FGF20	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	2674	GFRA1	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	7484	WNT9B	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	80000	GREB1L	ORPHA:1848
HP:0001958	Nonketotic hypoglycemia	28976	ACAD9	ORPHA:99901
HP:0001958	Nonketotic hypoglycemia	37	ACADVL	OMIM:201475
HP:0001958	Nonketotic hypoglycemia	4221	MEN1	ORPHA:97279
HP:0001958	Nonketotic hypoglycemia	7528	YY1	ORPHA:97279
HP:0001959	Polydipsia	261734	NPHP4	OMIM:606996
HP:0001959	Polydipsia	261734	NPHP4	OMIM:606966
HP:0001959	Polydipsia	1497	CTNS	OMIM:219800
HP:0001959	Polydipsia	1497	CTNS	ORPHA:411629
HP:0001959	Polydipsia	1497	CTNS	ORPHA:411634
HP:0001959	Polydipsia	359	AQP2	OMIM:125800
HP:0001959	Polydipsia	359	AQP2	ORPHA:223
HP:0001959	Polydipsia	54585	LZTFL1	OMIM:615994
HP:0001959	Polydipsia	493856	CISD2	ORPHA:3463
HP:0001959	Polydipsia	7466	WFS1	ORPHA:3463
HP:0001959	Polydipsia	6928	HNF1B	ORPHA:93111
HP:0001959	Polydipsia	554	AVPR2	ORPHA:223
HP:0001959	Polydipsia	554	AVPR2	OMIM:304800
HP:0001959	Polydipsia	3766	KCNJ10	ORPHA:199343
HP:0001959	Polydipsia	3766	KCNJ10	OMIM:612780
HP:0001959	Polydipsia	79577	CDC73	ORPHA:143
HP:0001959	Polydipsia	79577	CDC73	ORPHA:99880
HP:0001959	Polydipsia	4867	NPHP1	OMIM:266900
HP:0001959	Polydipsia	4867	NPHP1	OMIM:256100
HP:0001959	Polydipsia	51473	DCDC2	ORPHA:84081
HP:0001959	Polydipsia	91147	TMEM67	ORPHA:84081
HP:0001959	Polydipsia	91147	TMEM67	OMIM:613550
HP:0001959	Polydipsia	10686	CLDN16	OMIM:248250
HP:0001959	Polydipsia	3662	IRF4	ORPHA:3452
HP:0001959	Polydipsia	199221	DZIP1L	ORPHA:731
HP:0001959	Polydipsia	5314	PKHD1	ORPHA:731
HP:0001959	Polydipsia	9071	CLDN10	OMIM:617671
HP:0001959	Polydipsia	9365	KL	OMIM:617994
HP:0001959	Polydipsia	114548	NLRP3	ORPHA:47045
HP:0001959	Polydipsia	551	AVP	ORPHA:30925
HP:0001959	Polydipsia	3762	KCNJ5	OMIM:613677
HP:0001959	Polydipsia	3762	KCNJ5	ORPHA:251274
HP:0001959	Polydipsia	3643	INSR	ORPHA:769
HP:0001959	Polydipsia	1584	CYP11B1	ORPHA:403
HP:0001959	Polydipsia	1585	CYP11B2	ORPHA:403
HP:0001959	Polydipsia	3291	HSD11B2	ORPHA:320
HP:0001959	Polydipsia	7809	BSND	OMIM:602522
HP:0001959	Polydipsia	26191	PTPN22	OMIM:222100
HP:0001959	Polydipsia	3710	ITPR3	OMIM:222100
HP:0001959	Polydipsia	3569	IL6	OMIM:222100
HP:0001959	Polydipsia	6927	HNF1A	OMIM:222100
HP:0001959	Polydipsia	776	CACNA1D	ORPHA:369929
HP:0001959	Polydipsia	254428	SLC41A1	OMIM:619468
HP:0001959	Polydipsia	3758	KCNJ1	OMIM:241200
HP:0001959	Polydipsia	9860	LRIG2	ORPHA:2704
HP:0001959	Polydipsia	60495	HPSE2	ORPHA:2704
HP:0001959	Polydipsia	6559	SLC12A3	OMIM:263800
HP:0001959	Polydipsia	6559	SLC12A3	ORPHA:358
HP:0001959	Polydipsia	27241	BBS9	OMIM:615986
HP:0001959	Polydipsia	27031	NPHP3	OMIM:604387
HP:0001959	Polydipsia	2260	FGFR1	ORPHA:3157
HP:0001959	Polydipsia	128674	PROKR2	ORPHA:3157
HP:0001959	Polydipsia	6657	SOX2	ORPHA:3157
HP:0001959	Polydipsia	6658	SOX3	ORPHA:3157
HP:0001959	Polydipsia	9915	ARNT2	ORPHA:3157
HP:0001959	Polydipsia	8820	HESX1	ORPHA:3157
HP:0001959	Polydipsia	5015	OTX2	ORPHA:3157
HP:0001959	Polydipsia	1188	CLCNKB	ORPHA:358
HP:0001959	Polydipsia	846	CASR	OMIM:239200
HP:0001959	Polydipsia	6524	SLC5A2	OMIM:233100
HP:0001960	Hypokalemic metabolic alkalosis	3291	HSD11B2	ORPHA:320
HP:0001960	Hypokalemic metabolic alkalosis	6557	SLC12A1	OMIM:601678
HP:0001960	Hypokalemic metabolic alkalosis	7809	BSND	ORPHA:89938
HP:0001960	Hypokalemic metabolic alkalosis	1188	CLCNKB	ORPHA:89938
HP:0001960	Hypokalemic metabolic alkalosis	1188	CLCNKB	OMIM:607364
HP:0001960	Hypokalemic metabolic alkalosis	1187	CLCNKA	ORPHA:89938
HP:0001960	Hypokalemic metabolic alkalosis	3106	HLA-B	ORPHA:36426
HP:0001960	Hypokalemic metabolic alkalosis	10320	IKZF1	ORPHA:36426
HP:0001960	Hypokalemic metabolic alkalosis	3758	KCNJ1	OMIM:241200
HP:0001960	Hypokalemic metabolic alkalosis	3766	KCNJ10	OMIM:612780
HP:0001961	Hypoplastic heart	1146	CHRNG	OMIM:253290
HP:0001961	Hypoplastic heart	1144	CHRND	OMIM:253290
HP:0001961	Hypoplastic heart	1134	CHRNA1	OMIM:253290
HP:0001961	Hypoplastic heart	2294	FOXF1	OMIM:265380
HP:0001961	Hypoplastic heart	2294	FOXF1	ORPHA:210122
HP:0001961	Hypoplastic heart	7490	WT1	OMIM:608978
HP:0001961	Hypoplastic heart	7490	WT1	ORPHA:3097
HP:0001961	Hypoplastic heart	10735	STAG2	OMIM:301043
HP:0001961	Hypoplastic heart	10735	STAG2	OMIM:301022
HP:0001961	Hypoplastic heart	6910	TBX5	ORPHA:392
HP:0001961	Hypoplastic heart	6910	TBX5	OMIM:142900
HP:0001961	Hypoplastic heart	65250	CPLANE1	OMIM:277170
HP:0001961	Hypoplastic heart	7026	NR2F2	OMIM:618901
HP:0001961	Hypoplastic heart	7026	NR2F2	OMIM:615779
HP:0001961	Hypoplastic heart	1387	CREBBP	OMIM:180849
HP:0001961	Hypoplastic heart	2033	EP300	OMIM:180849
HP:0001961	Hypoplastic heart	11020	IFT27	OMIM:615996
HP:0001961	Hypoplastic heart	1024	CDK8	OMIM:618748
HP:0001961	Hypoplastic heart	57514	ARHGAP31	OMIM:100300
HP:0001961	Hypoplastic heart	145173	B3GLCT	ORPHA:709
HP:0001961	Hypoplastic heart	6899	TBX1	ORPHA:1727
HP:0001961	Hypoplastic heart	8405	SPOP	OMIM:618829
HP:0001961	Hypoplastic heart	1837	DTNA	OMIM:604169
HP:0001961	Hypoplastic heart	23498	HAAO	OMIM:617660
HP:0001961	Hypoplastic heart	3021	H3-3B	OMIM:619721
HP:0001961	Hypoplastic heart	2627	GATA6	OMIM:614474
HP:0001961	Hypoplastic heart	219854	TMEM218	OMIM:619562
HP:0001961	Hypoplastic heart	8942	KYNU	OMIM:617661
HP:0001961	Hypoplastic heart	2697	GJA1	ORPHA:2248
HP:0001961	Hypoplastic heart	1482	NKX2-5	ORPHA:2248
HP:0001961	Hypoplastic heart	1482	NKX2-5	OMIM:614435
HP:0001961	Hypoplastic heart	1482	NKX2-5	ORPHA:402075
HP:0001961	Hypoplastic heart	55784	MCTP2	ORPHA:1596
HP:0001961	Hypoplastic heart	4851	NOTCH1	ORPHA:402075
HP:0001961	Hypoplastic heart	140628	GATA5	ORPHA:402075
HP:0001961	Hypoplastic heart	4091	SMAD6	ORPHA:402075
HP:0001961	Hypoplastic heart	5053	PAH	ORPHA:2209
HP:0001961	Hypoplastic heart	745	MYRF	OMIM:618280
HP:0001961	Hypoplastic heart	7547	ZIC3	OMIM:306955
HP:0001961	Hypoplastic heart	9897	WASHC5	OMIM:220210
HP:0001961	Hypoplastic heart	9897	WASHC5	ORPHA:7
HP:0001961	Hypoplastic heart	84231	TRAF7	OMIM:618164
HP:0001961	Hypoplastic heart	8195	MKKS	ORPHA:2473
HP:0001961	Hypoplastic heart	55191	NADSYN1	OMIM:618845
HP:0001961	Hypoplastic heart	2626	GATA4	ORPHA:251071
HP:0001961	Hypoplastic heart	28952	CCDC22	ORPHA:7
HP:0001961	Hypoplastic heart	51117	COQ4	OMIM:616276
HP:0001961	Hypoplastic heart	168507	PKD1L1	OMIM:617205
HP:0001961	Hypoplastic heart	220136	CFAP53	OMIM:614779
HP:0001961	Hypoplastic heart	2783	GNB2	OMIM:619503
HP:0001961	Hypoplastic heart	100128908	CIROP	OMIM:619702
HP:0001961	Hypoplastic heart	2313	FLI1	ORPHA:2308
HP:0001961	Hypoplastic heart	523	ATP6V1A	OMIM:617403
HP:0001961	Hypoplastic heart	1857	DVL3	OMIM:616894
HP:0001961	Hypoplastic heart	348180	CTU2	OMIM:618142
HP:0001963	Abnormal speech discrimination	79188	TMEM43	OMIM:619832
HP:0001963	Abnormal speech discrimination	11133	KPTN	ORPHA:397612
HP:0001963	Abnormal speech discrimination	81624	DIAPH3	OMIM:609129
HP:0001963	Abnormal speech discrimination	9131	AIFM1	OMIM:300614
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	8200	GDF5	OMIM:200700
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7476	WNT7A	OMIM:276820
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7476	WNT7A	OMIM:228930
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	8626	TP63	OMIM:605289
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3094	HINT1	ORPHA:324442
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	9759	HDAC4	OMIM:600430
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5191	PEX7	OMIM:266500
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5264	PHYH	OMIM:266500
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	94005	PIGS	OMIM:618143
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	89970	RSPRY1	ORPHA:457395
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	89970	RSPRY1	OMIM:616723
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	54585	LZTFL1	OMIM:615994
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	55628	ZNF407	OMIM:619557
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2146	EZH2	OMIM:277590
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	79633	FAT4	OMIM:615546
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	8642	DCHS1	OMIM:601390
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	54101	RIPK4	ORPHA:1401
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3239	HOXD13	ORPHA:93409
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6925	TCF4	OMIM:610954
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	9578	CDC42BPB	OMIM:619841
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2778	GNAS	ORPHA:79443
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2778	GNAS	ORPHA:79444
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	23288	IQCE	OMIM:617642
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	341208	HEPHL1	OMIM:261990
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7291	TWIST1	OMIM:101400
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2263	FGFR2	OMIM:101400
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2033	EP300	OMIM:613684
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3209	HOXA13	OMIM:140000
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3209	HOXA13	ORPHA:2438
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	57020	VPS35L	OMIM:619135
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	1280	COL2A1	OMIM:271700
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	1280	COL2A1	OMIM:609162
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	1280	COL2A1	ORPHA:1856
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5573	PRKAR1A	ORPHA:950
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5573	PRKAR1A	ORPHA:280651
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5573	PRKAR1A	OMIM:101800
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5144	PDE4D	ORPHA:950
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5144	PDE4D	ORPHA:280651
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5144	PDE4D	ORPHA:439822
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5144	PDE4D	OMIM:614613
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	64374	SIL1	OMIM:248800
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	64840	PORCN	OMIM:305600
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	4882	NPR2	OMIM:602875
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	145173	B3GLCT	OMIM:261540
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6885	MAP3K7	OMIM:617137
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6885	MAP3K7	ORPHA:1826
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5593	PRKG2	OMIM:619636
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	59341	TRPV4	ORPHA:93314
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	25839	COG4	OMIM:618150
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2200	FBN1	OMIM:608328
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6299	SALL1	OMIM:107480
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5744	PTHLH	OMIM:613382
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5744	PTHLH	ORPHA:93387
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	51098	IFT52	OMIM:617102
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	1836	SLC26A2	ORPHA:93307
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	658	BMPR1B	ORPHA:93384
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2316	FLNA	OMIM:304120
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2316	FLNA	ORPHA:1826
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	124583	CANT1	OMIM:251450
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	54808	DYM	OMIM:223800
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	54496	PRMT7	OMIM:617157
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2260	FGFR1	OMIM:166250
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3759	KCNJ2	OMIM:170390
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	22856	CHSY1	OMIM:605282
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2317	FLNB	OMIM:108720
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2317	FLNB	OMIM:150250
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	157680	VPS13B	OMIM:216550
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	9896	FIG4	OMIM:216340
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6595	SMARCA2	OMIM:601358
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	9742	IFT140	OMIM:266920
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	83452	RAB33B	OMIM:615222
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6736	SRY	ORPHA:1772
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7227	TRPS1	OMIM:190350
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7227	TRPS1	OMIM:190351
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	7227	TRPS1	ORPHA:77258
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	90417	KNSTRN	OMIM:613328
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	5293	PIK3CD	OMIM:613328
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	25886	POC1A	OMIM:614813
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	3516	RBPJ	OMIM:614814
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	64327	LMBR1	OMIM:200500
HP:0001965	Abnormal scalp morphology	7291	TWIST1	ORPHA:794
HP:0001965	Abnormal scalp morphology	7291	TWIST1	OMIM:101400
HP:0001965	Abnormal scalp morphology	7291	TWIST1	OMIM:617746
HP:0001965	Abnormal scalp morphology	2263	FGFR2	ORPHA:794
HP:0001965	Abnormal scalp morphology	2263	FGFR2	OMIM:101400
HP:0001965	Abnormal scalp morphology	2261	FGFR3	ORPHA:794
HP:0001965	Abnormal scalp morphology	2261	FGFR3	OMIM:602849
HP:0001965	Abnormal scalp morphology	11113	CIT	OMIM:617090
HP:0001965	Abnormal scalp morphology	10128	LRPPRC	OMIM:220111
HP:0001965	Abnormal scalp morphology	91949	COG7	OMIM:608779
HP:0001965	Abnormal scalp morphology	25970	SH2B1	ORPHA:261222
HP:0001965	Abnormal scalp morphology	9131	AIFM1	OMIM:300232
HP:0001965	Abnormal scalp morphology	6909	TBX2	OMIM:618223
HP:0001965	Abnormal scalp morphology	23013	SPEN	OMIM:619312
HP:0001965	Abnormal scalp morphology	8367	H4C5	OMIM:619950
HP:0001965	Abnormal scalp morphology	117581	TWIST2	OMIM:227260
HP:0001965	Abnormal scalp morphology	117581	TWIST2	OMIM:209885
HP:0001965	Abnormal scalp morphology	6885	MAP3K7	OMIM:617137
HP:0001965	Abnormal scalp morphology	55627	SMPD4	OMIM:618622
HP:0001965	Abnormal scalp morphology	8818	DPM2	ORPHA:329178
HP:0001965	Abnormal scalp morphology	7545	ZIC1	OMIM:616602
HP:0001965	Abnormal scalp morphology	7545	ZIC1	OMIM:618736
HP:0001965	Abnormal scalp morphology	7518	XRCC4	ORPHA:99812
HP:0001965	Abnormal scalp morphology	3981	LIG4	ORPHA:99812
HP:0001965	Abnormal scalp morphology	3981	LIG4	OMIM:606593
HP:0001965	Abnormal scalp morphology	3981	LIG4	ORPHA:235
HP:0001965	Abnormal scalp morphology	55209	SETD5	ORPHA:404440
HP:0001965	Abnormal scalp morphology	55209	SETD5	OMIM:615761
HP:0001965	Abnormal scalp morphology	57465	TBC1D24	OMIM:220500
HP:0001965	Abnormal scalp morphology	57465	TBC1D24	ORPHA:79500
HP:0001965	Abnormal scalp morphology	9578	CDC42BPB	OMIM:619841
HP:0001965	Abnormal scalp morphology	170302	ARX	OMIM:300004
HP:0001965	Abnormal scalp morphology	29998	BICRA	OMIM:619325
HP:0001965	Abnormal scalp morphology	341640	FREM2	OMIM:617666
HP:0001965	Abnormal scalp morphology	55690	PACS1	OMIM:615009
HP:0001965	Abnormal scalp morphology	55690	PACS1	ORPHA:329224
HP:0001965	Abnormal scalp morphology	4081	MAB21L1	OMIM:618479
HP:0001965	Abnormal scalp morphology	318	NUDT2	OMIM:619844
HP:0001965	Abnormal scalp morphology	10982	MAPRE2	OMIM:616734
HP:0001965	Abnormal scalp morphology	55780	ERMARD	ORPHA:75857
HP:0001965	Abnormal scalp morphology	5934	RBL2	OMIM:619690
HP:0001965	Abnormal scalp morphology	83999	KREMEN1	OMIM:617392
HP:0001965	Abnormal scalp morphology	10735	STAG2	OMIM:301022
HP:0001965	Abnormal scalp morphology	23221	RHOBTB2	OMIM:618004
HP:0001965	Abnormal scalp morphology	55870	ASH1L	OMIM:617796
HP:0001965	Abnormal scalp morphology	4125	MAN2B1	OMIM:248500
HP:0001965	Abnormal scalp morphology	1020	CDK5	OMIM:616342
HP:0001965	Abnormal scalp morphology	3756	KCNH1	OMIM:135500
HP:0001965	Abnormal scalp morphology	3756	KCNH1	ORPHA:420561
HP:0001965	Abnormal scalp morphology	79029	AFG2B	OMIM:619616
HP:0001965	Abnormal scalp morphology	6597	SMARCA4	ORPHA:1465
HP:0001965	Abnormal scalp morphology	6598	SMARCB1	ORPHA:1465
HP:0001965	Abnormal scalp morphology	6659	SOX4	ORPHA:1465
HP:0001965	Abnormal scalp morphology	8289	ARID1A	ORPHA:1465
HP:0001965	Abnormal scalp morphology	8289	ARID1A	OMIM:614607
HP:0001965	Abnormal scalp morphology	5977	DPF2	ORPHA:1465
HP:0001965	Abnormal scalp morphology	6601	SMARCC2	ORPHA:1465
HP:0001965	Abnormal scalp morphology	57492	ARID1B	ORPHA:1465
HP:0001965	Abnormal scalp morphology	196528	ARID2	ORPHA:1465
HP:0001965	Abnormal scalp morphology	6605	SMARCE1	ORPHA:1465
HP:0001965	Abnormal scalp morphology	6605	SMARCE1	OMIM:616938
HP:0001965	Abnormal scalp morphology	6664	SOX11	ORPHA:1465
HP:0001965	Abnormal scalp morphology	23389	MED13L	ORPHA:369891
HP:0001965	Abnormal scalp morphology	23065	EMC1	OMIM:616875
HP:0001965	Abnormal scalp morphology	23065	EMC1	ORPHA:480898
HP:0001965	Abnormal scalp morphology	128637	TBC1D20	OMIM:615663
HP:0001965	Abnormal scalp morphology	1954	MEGF8	OMIM:614976
HP:0001965	Abnormal scalp morphology	3782	KCNN3	OMIM:618658
HP:0001965	Abnormal scalp morphology	4853	NOTCH2	ORPHA:955
HP:0001965	Abnormal scalp morphology	57572	DOCK6	OMIM:614219
HP:0001965	Abnormal scalp morphology	59336	PRDM13	OMIM:619909
HP:0001965	Abnormal scalp morphology	54888	NSUN2	ORPHA:235
HP:0001965	Abnormal scalp morphology	9895	TECPR2	OMIM:615031
HP:0001965	Abnormal scalp morphology	9895	TECPR2	ORPHA:320385
HP:0001965	Abnormal scalp morphology	157680	VPS13B	ORPHA:193
HP:0001965	Abnormal scalp morphology	1182	CLCN3	OMIM:619512
HP:0001965	Abnormal scalp morphology	6938	TCF12	OMIM:615314
HP:0001965	Abnormal scalp morphology	22931	RAB18	OMIM:614222
HP:0001965	Abnormal scalp morphology	85440	DOCK7	ORPHA:411986
HP:0001965	Abnormal scalp morphology	85440	DOCK7	OMIM:615859
HP:0001965	Abnormal scalp morphology	80036	TRPM3	OMIM:620224
HP:0001965	Abnormal scalp morphology	8405	SPOP	OMIM:618828
HP:0001965	Abnormal scalp morphology	526	ATP6V1B2	ORPHA:79500
HP:0001965	Abnormal scalp morphology	84172	POLR1B	ORPHA:861
HP:0001965	Abnormal scalp morphology	9533	POLR1C	ORPHA:861
HP:0001965	Abnormal scalp morphology	51082	POLR1D	ORPHA:861
HP:0001965	Abnormal scalp morphology	6949	TCOF1	ORPHA:861
HP:0001965	Abnormal scalp morphology	7204	TRIO	OMIM:617061
HP:0001965	Abnormal scalp morphology	253959	RALGAPA1	OMIM:618797
HP:0001965	Abnormal scalp morphology	91875	TTC5	OMIM:619244
HP:0001965	Abnormal scalp morphology	440138	ALG11	OMIM:613661
HP:0001965	Abnormal scalp morphology	93587	TRMT10A	ORPHA:391408
HP:0001965	Abnormal scalp morphology	93587	TRMT10A	OMIM:616033
HP:0001965	Abnormal scalp morphology	84919	PPP1R15B	ORPHA:391408
HP:0001965	Abnormal scalp morphology	55343	SLC35C1	ORPHA:99843
HP:0001965	Abnormal scalp morphology	55691	FRMD4A	OMIM:616819
HP:0001965	Abnormal scalp morphology	55691	FRMD4A	ORPHA:466688
HP:0001965	Abnormal scalp morphology	79147	FKRP	OMIM:613153
HP:0001965	Abnormal scalp morphology	374969	SVBP	OMIM:618569
HP:0001965	Abnormal scalp morphology	3643	INSR	ORPHA:769
HP:0001965	Abnormal scalp morphology	4683	NBN	ORPHA:647
HP:0001965	Abnormal scalp morphology	3339	HSPG2	ORPHA:800
HP:0001965	Abnormal scalp morphology	6135	RPL11	ORPHA:124
HP:0001965	Abnormal scalp morphology	6138	RPL15	ORPHA:124
HP:0001965	Abnormal scalp morphology	6229	RPS24	ORPHA:124
HP:0001965	Abnormal scalp morphology	6125	RPL5	ORPHA:124
HP:0001965	Abnormal scalp morphology	6204	RPS10	ORPHA:124
HP:0001965	Abnormal scalp morphology	6224	RPS20	ORPHA:124
HP:0001965	Abnormal scalp morphology	6165	RPL35A	ORPHA:124
HP:0001965	Abnormal scalp morphology	6223	RPS19	ORPHA:124
HP:0001965	Abnormal scalp morphology	6232	RPS27	ORPHA:124
HP:0001965	Abnormal scalp morphology	6231	RPS26	ORPHA:124
HP:0001965	Abnormal scalp morphology	11224	RPL35	ORPHA:124
HP:0001965	Abnormal scalp morphology	6160	RPL31	ORPHA:124
HP:0001965	Abnormal scalp morphology	6218	RPS17	ORPHA:124
HP:0001965	Abnormal scalp morphology	6201	RPS7	ORPHA:124
HP:0001965	Abnormal scalp morphology	6155	RPL27	ORPHA:124
HP:0001965	Abnormal scalp morphology	6154	RPL26	ORPHA:124
HP:0001965	Abnormal scalp morphology	6210	RPS15A	ORPHA:124
HP:0001965	Abnormal scalp morphology	90121	TSR2	ORPHA:124
HP:0001965	Abnormal scalp morphology	6141	RPL18	ORPHA:124
HP:0001965	Abnormal scalp morphology	6235	RPS29	ORPHA:124
HP:0001965	Abnormal scalp morphology	51816	ADA2	ORPHA:124
HP:0001965	Abnormal scalp morphology	171023	ASXL1	OMIM:605039
HP:0001965	Abnormal scalp morphology	672	BRCA1	OMIM:617883
HP:0001965	Abnormal scalp morphology	6878	TAF6	OMIM:617126
HP:0001965	Abnormal scalp morphology	9990	SLC12A6	OMIM:218000
HP:0001965	Abnormal scalp morphology	8092	ALX1	ORPHA:306542
HP:0001965	Abnormal scalp morphology	55027	HEATR3	OMIM:620072
HP:0001965	Abnormal scalp morphology	257	ALX3	OMIM:136760
HP:0001965	Abnormal scalp morphology	257	ALX3	ORPHA:391474
HP:0001965	Abnormal scalp morphology	4281	MID1	OMIM:300000
HP:0001965	Abnormal scalp morphology	4281	MID1	ORPHA:2745
HP:0001965	Abnormal scalp morphology	6857	SYT1	ORPHA:522077
HP:0001965	Abnormal scalp morphology	10220	GDF11	OMIM:619122
HP:0001965	Abnormal scalp morphology	473	RERE	OMIM:616975
HP:0001965	Abnormal scalp morphology	23384	SPECC1L	OMIM:145420
HP:0001965	Abnormal scalp morphology	23384	SPECC1L	ORPHA:1519
HP:0001965	Abnormal scalp morphology	22907	DHX30	OMIM:617804
HP:0001965	Abnormal scalp morphology	6304	SATB1	OMIM:619229
HP:0001965	Abnormal scalp morphology	4036	LRP2	ORPHA:2143
HP:0001965	Abnormal scalp morphology	10522	DEAF1	OMIM:615828
HP:0001965	Abnormal scalp morphology	2316	FLNA	OMIM:304120
HP:0001965	Abnormal scalp morphology	10466	COG5	ORPHA:263487
HP:0001965	Abnormal scalp morphology	84168	ANTXR1	OMIM:230740
HP:0001965	Abnormal scalp morphology	9791	PTDSS1	OMIM:151050
HP:0001965	Abnormal scalp morphology	11128	POLR3A	OMIM:264090
HP:0001965	Abnormal scalp morphology	11128	POLR3A	ORPHA:3455
HP:0001965	Abnormal scalp morphology	4247	MGAT2	ORPHA:79329
HP:0001965	Abnormal scalp morphology	4312	MMP1	ORPHA:79408
HP:0001965	Abnormal scalp morphology	1294	COL7A1	ORPHA:79408
HP:0001965	Abnormal scalp morphology	1294	COL7A1	ORPHA:79409
HP:0001965	Abnormal scalp morphology	1294	COL7A1	ORPHA:79410
HP:0001965	Abnormal scalp morphology	1294	COL7A1	ORPHA:79411
HP:0001965	Abnormal scalp morphology	284252	KCTD1	ORPHA:2036
HP:0001965	Abnormal scalp morphology	2313	FLI1	ORPHA:370348
HP:0001965	Abnormal scalp morphology	64132	XYLT2	OMIM:605822
HP:0001965	Abnormal scalp morphology	64132	XYLT2	ORPHA:85194
HP:0001965	Abnormal scalp morphology	3479	IGF1	ORPHA:73272
HP:0001965	Abnormal scalp morphology	324	APC	ORPHA:261584
HP:0001965	Abnormal scalp morphology	1947	EFNB1	ORPHA:1520
HP:0001965	Abnormal scalp morphology	1947	EFNB1	OMIM:304110
HP:0001965	Abnormal scalp morphology	161742	SPRED1	OMIM:611431
HP:0001965	Abnormal scalp morphology	673	BRAF	OMIM:115150
HP:0001965	Abnormal scalp morphology	673	BRAF	ORPHA:1340
HP:0001965	Abnormal scalp morphology	673	BRAF	OMIM:613707
HP:0001965	Abnormal scalp morphology	673	BRAF	OMIM:613706
HP:0001965	Abnormal scalp morphology	673	BRAF	OMIM:163950
HP:0001965	Abnormal scalp morphology	79650	USB1	OMIM:604173
HP:0001965	Abnormal scalp morphology	10847	SRCAP	OMIM:136140
HP:0001965	Abnormal scalp morphology	3020	H3-3A	OMIM:619720
HP:0001965	Abnormal scalp morphology	23030	KDM4B	OMIM:619320
HP:0001965	Abnormal scalp morphology	5184	PEPD	OMIM:170100
HP:0001965	Abnormal scalp morphology	4893	NRAS	OMIM:613224
HP:0001965	Abnormal scalp morphology	4893	NRAS	ORPHA:648
HP:0001965	Abnormal scalp morphology	65082	VPS33A	OMIM:617303
HP:0001965	Abnormal scalp morphology	80055	PGAP1	OMIM:615802
HP:0001965	Abnormal scalp morphology	25782	RAB3GAP2	OMIM:212720
HP:0001965	Abnormal scalp morphology	25782	RAB3GAP2	ORPHA:1387
HP:0001965	Abnormal scalp morphology	3764	KCNJ8	ORPHA:1517
HP:0001965	Abnormal scalp morphology	10060	ABCC9	ORPHA:1517
HP:0001965	Abnormal scalp morphology	4297	KMT2A	OMIM:605130
HP:0001965	Abnormal scalp morphology	4763	NF1	OMIM:601321
HP:0001965	Abnormal scalp morphology	55777	MBD5	OMIM:156200
HP:0001965	Abnormal scalp morphology	165	AEBP1	OMIM:618000
HP:0001965	Abnormal scalp morphology	10265	IRX5	OMIM:611174
HP:0001965	Abnormal scalp morphology	5604	MAP2K1	ORPHA:1340
HP:0001965	Abnormal scalp morphology	5604	MAP2K1	OMIM:163950
HP:0001965	Abnormal scalp morphology	5605	MAP2K2	ORPHA:1340
HP:0001965	Abnormal scalp morphology	3845	KRAS	ORPHA:1340
HP:0001965	Abnormal scalp morphology	3845	KRAS	ORPHA:648
HP:0001965	Abnormal scalp morphology	1000	CDH2	OMIM:618929
HP:0001965	Abnormal scalp morphology	7020	TFAP2A	OMIM:113620
HP:0001965	Abnormal scalp morphology	7319	UBE2A	OMIM:300860
HP:0001965	Abnormal scalp morphology	7319	UBE2A	ORPHA:163956
HP:0001965	Abnormal scalp morphology	10815	CPLX1	ORPHA:280
HP:0001965	Abnormal scalp morphology	10815	CPLX1	OMIM:194190
HP:0001965	Abnormal scalp morphology	54872	PIGG	ORPHA:280
HP:0001965	Abnormal scalp morphology	7469	NELFA	ORPHA:280
HP:0001965	Abnormal scalp morphology	1487	CTBP1	ORPHA:280
HP:0001965	Abnormal scalp morphology	1487	CTBP1	OMIM:194190
HP:0001965	Abnormal scalp morphology	3954	LETM1	ORPHA:280
HP:0001965	Abnormal scalp morphology	3954	LETM1	OMIM:194190
HP:0001965	Abnormal scalp morphology	7468	NSD2	ORPHA:280
HP:0001965	Abnormal scalp morphology	7468	NSD2	OMIM:194190
HP:0001965	Abnormal scalp morphology	8036	SHOC2	ORPHA:2701
HP:0001965	Abnormal scalp morphology	5500	PPP1CB	ORPHA:2701
HP:0001965	Abnormal scalp morphology	5500	PPP1CB	OMIM:617506
HP:0001965	Abnormal scalp morphology	4854	NOTCH3	ORPHA:2789
HP:0001965	Abnormal scalp morphology	51729	WBP11	OMIM:619227
HP:0001965	Abnormal scalp morphology	200734	SPRED2	OMIM:619745
HP:0001965	Abnormal scalp morphology	200734	SPRED2	ORPHA:648
HP:0001965	Abnormal scalp morphology	6602	SMARCD1	OMIM:618779
HP:0001965	Abnormal scalp morphology	53834	FGFRL1	OMIM:194190
HP:0001965	Abnormal scalp morphology	6234	RPS28	OMIM:606164
HP:0001965	Abnormal scalp morphology	60	ACTB	OMIM:243310
HP:0001965	Abnormal scalp morphology	60	ACTB	ORPHA:2995
HP:0001965	Abnormal scalp morphology	57167	SALL4	ORPHA:233
HP:0001965	Abnormal scalp morphology	9935	MAFB	ORPHA:233
HP:0001965	Abnormal scalp morphology	1123	CHN1	ORPHA:233
HP:0001965	Abnormal scalp morphology	23476	BRD4	ORPHA:199
HP:0001965	Abnormal scalp morphology	9126	SMC3	ORPHA:199
HP:0001965	Abnormal scalp morphology	8243	SMC1A	ORPHA:199
HP:0001965	Abnormal scalp morphology	25836	NIPBL	ORPHA:199
HP:0001965	Abnormal scalp morphology	25836	NIPBL	OMIM:122470
HP:0001965	Abnormal scalp morphology	55869	HDAC8	ORPHA:199
HP:0001965	Abnormal scalp morphology	5885	RAD21	ORPHA:199
HP:0001965	Abnormal scalp morphology	392255	GDF6	OMIM:118100
HP:0001965	Abnormal scalp morphology	392255	GDF6	ORPHA:2345
HP:0001965	Abnormal scalp morphology	1387	CREBBP	OMIM:180849
HP:0001965	Abnormal scalp morphology	2033	EP300	OMIM:180849
HP:0001965	Abnormal scalp morphology	29957	SLC25A24	OMIM:612289
HP:0001965	Abnormal scalp morphology	79005	SCNM1	OMIM:620107
HP:0001965	Abnormal scalp morphology	4784	NFIX	ORPHA:420179
HP:0001965	Abnormal scalp morphology	54499	TMCO1	OMIM:213980
HP:0001965	Abnormal scalp morphology	54499	TMCO1	ORPHA:1394
HP:0001965	Abnormal scalp morphology	5293	PIK3CD	ORPHA:221139
HP:0001965	Abnormal scalp morphology	90417	KNSTRN	ORPHA:221139
HP:0001965	Abnormal scalp morphology	79796	ALG9	ORPHA:79328
HP:0001965	Abnormal scalp morphology	8567	MADD	OMIM:619004
HP:0001965	Abnormal scalp morphology	374879	ZNF699	OMIM:619488
HP:0001965	Abnormal scalp morphology	5594	MAPK1	OMIM:619087
HP:0001965	Abnormal scalp morphology	28952	CCDC22	OMIM:300963
HP:0001965	Abnormal scalp morphology	4849	CNOT3	OMIM:618672
HP:0001965	Abnormal scalp morphology	226	ALDOA	OMIM:611881
HP:0001965	Abnormal scalp morphology	4222	MEOX1	OMIM:214300
HP:0001965	Abnormal scalp morphology	4222	MEOX1	ORPHA:2345
HP:0001965	Abnormal scalp morphology	80267	EDEM3	OMIM:619493
HP:0001965	Abnormal scalp morphology	9897	WASHC5	OMIM:220210
HP:0001965	Abnormal scalp morphology	10020	GNE	OMIM:269921
HP:0001965	Abnormal scalp morphology	5286	PIK3C2A	OMIM:618440
HP:0001965	Abnormal scalp morphology	738	VPS51	OMIM:618606
HP:0001965	Abnormal scalp morphology	22930	RAB3GAP1	ORPHA:1387
HP:0001965	Abnormal scalp morphology	23133	PHF8	ORPHA:85287
HP:0001965	Abnormal scalp morphology	23133	PHF8	OMIM:300263
HP:0001965	Abnormal scalp morphology	54187	NANS	OMIM:610442
HP:0001965	Abnormal scalp morphology	84700	MYO18B	OMIM:616549
HP:0001965	Abnormal scalp morphology	22800	RRAS2	ORPHA:648
HP:0001965	Abnormal scalp morphology	867	CBL	ORPHA:648
HP:0001965	Abnormal scalp morphology	867	CBL	OMIM:613563
HP:0001965	Abnormal scalp morphology	8216	LZTR1	ORPHA:648
HP:0001965	Abnormal scalp morphology	8216	LZTR1	OMIM:605275
HP:0001965	Abnormal scalp morphology	6016	RIT1	ORPHA:648
HP:0001965	Abnormal scalp morphology	6237	RRAS	ORPHA:648
HP:0001965	Abnormal scalp morphology	5894	RAF1	ORPHA:648
HP:0001965	Abnormal scalp morphology	22808	MRAS	ORPHA:648
HP:0001965	Abnormal scalp morphology	6654	SOS1	ORPHA:648
HP:0001965	Abnormal scalp morphology	6655	SOS2	ORPHA:648
HP:0001965	Abnormal scalp morphology	5781	PTPN11	ORPHA:648
HP:0001965	Abnormal scalp morphology	5781	PTPN11	OMIM:163950
HP:0001965	Abnormal scalp morphology	5922	RASA2	ORPHA:648
HP:0001965	Abnormal scalp morphology	4621	MYH3	ORPHA:2990
HP:0001965	Abnormal scalp morphology	1146	CHRNG	ORPHA:2990
HP:0001965	Abnormal scalp morphology	5468	PPARG	ORPHA:528
HP:0001965	Abnormal scalp morphology	10555	AGPAT2	ORPHA:528
HP:0001965	Abnormal scalp morphology	284119	CAVIN1	ORPHA:528
HP:0001965	Abnormal scalp morphology	26580	BSCL2	ORPHA:528
HP:0001965	Abnormal scalp morphology	2353	FOS	ORPHA:528
HP:0001965	Abnormal scalp morphology	857	CAV1	ORPHA:528
HP:0001965	Abnormal scalp morphology	6913	TBX15	ORPHA:93333
HP:0001965	Abnormal scalp morphology	79087	ALG12	ORPHA:79324
HP:0001965	Abnormal scalp morphology	71	ACTG1	ORPHA:2995
HP:0001965	Abnormal scalp morphology	9469	CHST3	OMIM:245600
HP:0001965	Abnormal scalp morphology	26229	B3GAT3	OMIM:245600
HP:0001965	Abnormal scalp morphology	6595	SMARCA2	OMIM:601358
HP:0001965	Abnormal scalp morphology	29123	ANKRD11	OMIM:148050
HP:0001965	Abnormal scalp morphology	8621	CDK13	OMIM:617360
HP:0001965	Abnormal scalp morphology	9181	ARHGEF2	OMIM:617523
HP:0001965	Abnormal scalp morphology	9573	GDF3	ORPHA:2345
HP:0001965	Abnormal scalp morphology	6736	SRY	ORPHA:1772
HP:0001965	Abnormal scalp morphology	27152	INTU	OMIM:617925
HP:0001965	Abnormal scalp morphology	10075	HUWE1	OMIM:309590
HP:0001965	Abnormal scalp morphology	875	CBS	ORPHA:394
HP:0001965	Abnormal scalp morphology	54084	TSPEAR	OMIM:618180
HP:0001965	Abnormal scalp morphology	81607	NECTIN4	OMIM:613573
HP:0001965	Abnormal scalp morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001965	Abnormal scalp morphology	10054	UBA2	OMIM:619959
HP:0001965	Abnormal scalp morphology	9759	HDAC4	ORPHA:1001
HP:0001965	Abnormal scalp morphology	775	CACNA1C	OMIM:620029
HP:0001965	Abnormal scalp morphology	128178	EDARADD	OMIM:614941
HP:0001965	Abnormal scalp morphology	4047	LSS	ORPHA:2850
HP:0001965	Abnormal scalp morphology	4047	LSS	ORPHA:55654
HP:0001965	Abnormal scalp morphology	197	AHSG	ORPHA:2850
HP:0001965	Abnormal scalp morphology	3694	ITGB6	ORPHA:2850
HP:0001965	Abnormal scalp morphology	9401	RECQL4	OMIM:268400
HP:0001965	Abnormal scalp morphology	9401	RECQL4	OMIM:266280
HP:0001965	Abnormal scalp morphology	197131	UBR1	OMIM:243800
HP:0001965	Abnormal scalp morphology	267010	RNU12	OMIM:603116
HP:0001965	Abnormal scalp morphology	3728	JUP	ORPHA:34217
HP:0001965	Abnormal scalp morphology	54453	RIN2	ORPHA:217335
HP:0001965	Abnormal scalp morphology	6144	RPL21	OMIM:615885
HP:0001965	Abnormal scalp morphology	6144	RPL21	ORPHA:55654
HP:0001965	Abnormal scalp morphology	4792	NFKBIA	OMIM:612132
HP:0001965	Abnormal scalp morphology	54345	SOX18	ORPHA:69735
HP:0001965	Abnormal scalp morphology	54345	SOX18	OMIM:607823
HP:0001965	Abnormal scalp morphology	54345	SOX18	OMIM:137940
HP:0001965	Abnormal scalp morphology	1825	DSC3	OMIM:613102
HP:0001965	Abnormal scalp morphology	4953	ODC1	ORPHA:544488
HP:0001965	Abnormal scalp morphology	4953	ODC1	OMIM:619075
HP:0001965	Abnormal scalp morphology	4000	LMNA	OMIM:248370
HP:0001965	Abnormal scalp morphology	3872	KRT17	OMIM:167210
HP:0001965	Abnormal scalp morphology	26128	KIFBP	ORPHA:66629
HP:0001965	Abnormal scalp morphology	4952	OCRL	ORPHA:534
HP:0001965	Abnormal scalp morphology	84196	USP48	ORPHA:96253
HP:0001965	Abnormal scalp morphology	7157	TP53	ORPHA:96253
HP:0001965	Abnormal scalp morphology	9101	USP8	ORPHA:96253
HP:0001965	Abnormal scalp morphology	64072	CDH23	ORPHA:96253
HP:0001965	Abnormal scalp morphology	2908	NR3C1	ORPHA:96253
HP:0001965	Abnormal scalp morphology	546	ATRX	ORPHA:96253
HP:0001965	Abnormal scalp morphology	23522	KAT6B	OMIM:606170
HP:0001965	Abnormal scalp morphology	23522	KAT6B	ORPHA:85201
HP:0001965	Abnormal scalp morphology	81857	MED25	ORPHA:464738
HP:0001965	Abnormal scalp morphology	1801	DPH1	OMIM:616901
HP:0001965	Abnormal scalp morphology	1801	DPH1	ORPHA:459061
HP:0001965	Abnormal scalp morphology	80326	WNT10A	OMIM:257980
HP:0001965	Abnormal scalp morphology	80326	WNT10A	OMIM:150400
HP:0001965	Abnormal scalp morphology	79574	EPS8L3	ORPHA:444
HP:0001965	Abnormal scalp morphology	55806	HR	ORPHA:444
HP:0001965	Abnormal scalp morphology	7703	PCGF2	OMIM:618371
HP:0001965	Abnormal scalp morphology	9896	FIG4	ORPHA:3472
HP:0001965	Abnormal scalp morphology	9896	FIG4	OMIM:216340
HP:0001965	Abnormal scalp morphology	55697	VAC14	ORPHA:3472
HP:0001965	Abnormal scalp morphology	4914	NTRK1	OMIM:256800
HP:0001965	Abnormal scalp morphology	1001	CDH3	ORPHA:1573
HP:0001965	Abnormal scalp morphology	1001	CDH3	OMIM:225280
HP:0001965	Abnormal scalp morphology	1001	CDH3	ORPHA:1897
HP:0001965	Abnormal scalp morphology	1474	CST6	OMIM:618535
HP:0001965	Abnormal scalp morphology	5116	PCNT	OMIM:210720
HP:0001965	Abnormal scalp morphology	5116	PCNT	ORPHA:808
HP:0001965	Abnormal scalp morphology	9419	CRIPT	OMIM:615789
HP:0001965	Abnormal scalp morphology	79669	C3orf52	OMIM:620177
HP:0001965	Abnormal scalp morphology	11285	B4GALT7	ORPHA:75496
HP:0001965	Abnormal scalp morphology	11285	B4GALT7	OMIM:130070
HP:0001965	Abnormal scalp morphology	8313	AXIN2	OMIM:608615
HP:0001965	Abnormal scalp morphology	200879	LIPH	OMIM:604379
HP:0001965	Abnormal scalp morphology	200879	LIPH	ORPHA:55654
HP:0001965	Abnormal scalp morphology	10526	IPO8	OMIM:619472
HP:0001965	Abnormal scalp morphology	147183	KRT25	OMIM:616760
HP:0001965	Abnormal scalp morphology	55651	NHP2	OMIM:224230
HP:0001965	Abnormal scalp morphology	55505	NOP10	OMIM:224230
HP:0001965	Abnormal scalp morphology	3122	HLA-DRA	ORPHA:505
HP:0001965	Abnormal scalp morphology	3675	ITGA3	OMIM:614748
HP:0001965	Abnormal scalp morphology	2131	EXT1	ORPHA:502
HP:0001965	Abnormal scalp morphology	7227	TRPS1	ORPHA:502
HP:0001965	Abnormal scalp morphology	147495	APCDD1	ORPHA:55654
HP:0001965	Abnormal scalp morphology	147409	DSG4	ORPHA:55654
HP:0001965	Abnormal scalp morphology	6635	SNRPE	ORPHA:55654
HP:0001965	Abnormal scalp morphology	10161	LPAR6	ORPHA:55654
HP:0001965	Abnormal scalp morphology	10161	LPAR6	OMIM:278150
HP:0001965	Abnormal scalp morphology	26137	ZBTB20	OMIM:259050
HP:0001965	Abnormal scalp morphology	4094	MAF	ORPHA:1272
HP:0001965	Abnormal scalp morphology	4094	MAF	OMIM:601088
HP:0001965	Abnormal scalp morphology	25959	KANK2	OMIM:616099
HP:0001965	Abnormal scalp morphology	11005	SPINK5	OMIM:256500
HP:0001965	Abnormal scalp morphology	11005	SPINK5	ORPHA:634
HP:0001965	Abnormal scalp morphology	79971	WLS	OMIM:619648
HP:0001965	Abnormal scalp morphology	84946	LTV1	OMIM:620199
HP:0001965	Abnormal scalp morphology	126792	B3GALT6	OMIM:271640
HP:0001965	Abnormal scalp morphology	1984	EIF5A	OMIM:619376
HP:0001965	Abnormal scalp morphology	8815	BANF1	OMIM:614008
HP:0001965	Abnormal scalp morphology	545	ATR	ORPHA:808
HP:0001965	Abnormal scalp morphology	1062	CENPE	ORPHA:808
HP:0001965	Abnormal scalp morphology	5932	RBBP8	ORPHA:808
HP:0001965	Abnormal scalp morphology	79902	NUP85	ORPHA:808
HP:0001965	Abnormal scalp morphology	84126	ATRIP	ORPHA:808
HP:0001965	Abnormal scalp morphology	55835	CENPJ	ORPHA:808
HP:0001965	Abnormal scalp morphology	10293	TRAIP	ORPHA:808
HP:0001965	Abnormal scalp morphology	22995	CEP152	ORPHA:808
HP:0001965	Abnormal scalp morphology	10733	PLK4	ORPHA:808
HP:0001965	Abnormal scalp morphology	51750	RTEL1	ORPHA:3322
HP:0001965	Abnormal scalp morphology	65057	ACD	ORPHA:3322
HP:0001965	Abnormal scalp morphology	5073	PARN	ORPHA:3322
HP:0001965	Abnormal scalp morphology	7015	TERT	ORPHA:3322
HP:0001965	Abnormal scalp morphology	26277	TINF2	ORPHA:3322
HP:0001965	Abnormal scalp morphology	1736	DKC1	ORPHA:3322
HP:0001965	Abnormal scalp morphology	9742	IFT140	OMIM:266920
HP:0001965	Abnormal scalp morphology	54101	RIPK4	OMIM:263650
HP:0001965	Abnormal scalp morphology	355	FAS	ORPHA:3437
HP:0001965	Abnormal scalp morphology	26191	PTPN22	ORPHA:3437
HP:0001965	Abnormal scalp morphology	120766137	HRURF	OMIM:146550
HP:0001965	Abnormal scalp morphology	2697	GJA1	ORPHA:1010
HP:0001965	Abnormal scalp morphology	64858	DCLRE1B	OMIM:620133
HP:0001965	Abnormal scalp morphology	3480	IGF1R	OMIM:270450
HP:0001965	Abnormal scalp morphology	1281	COL3A1	OMIM:130050
HP:0001965	Abnormal scalp morphology	1893	ECM1	ORPHA:530
HP:0001965	Abnormal scalp morphology	5317	PKP1	OMIM:604536
HP:0001965	Abnormal scalp morphology	5654	HTRA1	ORPHA:199354
HP:0001965	Abnormal scalp morphology	54800	KLHL24	OMIM:617294
HP:0001965	Abnormal scalp morphology	1041	CDSN	ORPHA:90368
HP:0001965	Abnormal scalp morphology	121391	KRT74	ORPHA:90368
HP:0001965	Abnormal scalp morphology	5297	PI4KA	ORPHA:436252
HP:0001965	Abnormal scalp morphology	57217	TTC7A	ORPHA:436252
HP:0001965	Abnormal scalp morphology	404672	GTF2H5	ORPHA:33364
HP:0001965	Abnormal scalp morphology	833	CARS1	ORPHA:33364
HP:0001965	Abnormal scalp morphology	2068	ERCC2	ORPHA:33364
HP:0001965	Abnormal scalp morphology	7737	RNF113A	ORPHA:33364
HP:0001965	Abnormal scalp morphology	136647	MPLKIP	ORPHA:33364
HP:0001965	Abnormal scalp morphology	6897	TARS1	ORPHA:33364
HP:0001965	Abnormal scalp morphology	2071	ERCC3	ORPHA:33364
HP:0001965	Abnormal scalp morphology	2961	GTF2E2	ORPHA:33364
HP:0001965	Abnormal scalp morphology	64421	DCLRE1C	OMIM:602450
HP:0001965	Abnormal scalp morphology	80781	COL18A1	OMIM:267750
HP:0001965	Abnormal scalp morphology	10999	SLC27A4	OMIM:608649
HP:0001965	Abnormal scalp morphology	55315	SLC29A3	OMIM:602782
HP:0001965	Abnormal scalp morphology	55630	SLC39A4	OMIM:201100
HP:0001965	Abnormal scalp morphology	23328	SASH1	OMIM:618373
HP:0001965	Abnormal scalp morphology	7486	WRN	OMIM:277700
HP:0001965	Abnormal scalp morphology	8626	TP63	OMIM:103285
HP:0001965	Abnormal scalp morphology	3861	KRT14	OMIM:125595
HP:0001965	Abnormal scalp morphology	10804	GJB6	ORPHA:477
HP:0001965	Abnormal scalp morphology	2706	GJB2	ORPHA:477
HP:0001965	Abnormal scalp morphology	2706	GJB2	OMIM:602540
HP:0001965	Abnormal scalp morphology	51360	MBTPS2	OMIM:308800
HP:0001965	Abnormal scalp morphology	1308	COL17A1	OMIM:619787
HP:0001965	Abnormal scalp morphology	1308	COL17A1	ORPHA:251393
HP:0001965	Abnormal scalp morphology	1308	COL17A1	ORPHA:79402
HP:0001965	Abnormal scalp morphology	5339	PLEC	OMIM:226670
HP:0001965	Abnormal scalp morphology	5339	PLEC	ORPHA:158684
HP:0001965	Abnormal scalp morphology	3691	ITGB4	ORPHA:158684
HP:0001965	Abnormal scalp morphology	3691	ITGB4	ORPHA:251393
HP:0001965	Abnormal scalp morphology	3691	ITGB4	ORPHA:79402
HP:0001965	Abnormal scalp morphology	10682	EBP	ORPHA:35173
HP:0001965	Abnormal scalp morphology	126695	KDF1	OMIM:617337
HP:0001965	Abnormal scalp morphology	387	RHOA	OMIM:618727
HP:0001965	Abnormal scalp morphology	9076	CLDN1	ORPHA:59303
HP:0001965	Abnormal scalp morphology	7390	UROS	ORPHA:79277
HP:0001965	Abnormal scalp morphology	2623	GATA1	ORPHA:79277
HP:0001965	Abnormal scalp morphology	7389	UROD	ORPHA:95159
HP:0001965	Abnormal scalp morphology	3909	LAMA3	ORPHA:79402
HP:0001965	Abnormal scalp morphology	3918	LAMC2	ORPHA:79402
HP:0001965	Abnormal scalp morphology	3914	LAMB3	ORPHA:79402
HP:0001965	Abnormal scalp morphology	10297	APC2	ORPHA:821
HP:0001965	Abnormal scalp morphology	1371	CPOX	ORPHA:79273
HP:0001965	Abnormal scalp morphology	80144	FRAS1	OMIM:219000
HP:0001965	Abnormal scalp morphology	5824	PEX19	OMIM:614886
HP:0001965	Abnormal scalp morphology	158326	FREM1	OMIM:248450
HP:0001965	Abnormal scalp morphology	7248	TSC1	OMIM:191100
HP:0001965	Abnormal scalp morphology	9653	HS2ST1	OMIM:619194
HP:0001965	Abnormal scalp morphology	1802	DPH2	OMIM:620062
HP:0001965	Abnormal scalp morphology	23394	ADNP	ORPHA:404448
HP:0001965	Abnormal scalp morphology	23394	ADNP	OMIM:615873
HP:0001965	Abnormal scalp morphology	104	ADARB1	OMIM:618862
HP:0001965	Abnormal scalp morphology	8812	CCNK	OMIM:618147
HP:0001965	Abnormal scalp morphology	6608	SMO	OMIM:601707
HP:0001965	Abnormal scalp morphology	4010	LMX1B	ORPHA:2614
HP:0001965	Abnormal scalp morphology	29926	GMPPA	OMIM:615510
HP:0001965	Abnormal scalp morphology	54361	WNT4	ORPHA:247768
HP:0001965	Abnormal scalp morphology	7360	UGP2	OMIM:618744
HP:0001965	Abnormal scalp morphology	3008	H1-4	OMIM:617537
HP:0001965	Abnormal scalp morphology	3703	STT3A	OMIM:619714
HP:0001965	Abnormal scalp morphology	5189	PEX1	ORPHA:3220
HP:0001965	Abnormal scalp morphology	5190	PEX6	ORPHA:3220
HP:0001965	Abnormal scalp morphology	10283	CWC27	OMIM:250410
HP:0001965	Abnormal scalp morphology	79718	TBL1XR1	OMIM:602342
HP:0001965	Abnormal scalp morphology	79718	TBL1XR1	ORPHA:487825
HP:0001965	Abnormal scalp morphology	79228	THOC6	ORPHA:363444
HP:0001965	Abnormal scalp morphology	79228	THOC6	OMIM:613680
HP:0001965	Abnormal scalp morphology	10026	PIGK	OMIM:618879
HP:0001965	Abnormal scalp morphology	10525	HYOU1	OMIM:233600
HP:0001965	Abnormal scalp morphology	999	CDH1	OMIM:119580
HP:0001965	Abnormal scalp morphology	84679	SLC9A7	OMIM:301024
HP:0001965	Abnormal scalp morphology	64135	IFIH1	OMIM:182250
HP:0001965	Abnormal scalp morphology	9968	MED12	OMIM:300895
HP:0001965	Abnormal scalp morphology	64324	NSD1	OMIM:117550
HP:0001965	Abnormal scalp morphology	55906	ZC4H2	OMIM:314580
HP:0001965	Abnormal scalp morphology	1748	DLX4	OMIM:616788
HP:0001965	Abnormal scalp morphology	25942	SIN3A	ORPHA:94065
HP:0001965	Abnormal scalp morphology	25942	SIN3A	OMIM:613406
HP:0001965	Abnormal scalp morphology	23028	KDM1A	ORPHA:477993
HP:0001965	Abnormal scalp morphology	4212	MEIS2	OMIM:600987
HP:0001965	Abnormal scalp morphology	5587	PRKD1	OMIM:617364
HP:0001965	Abnormal scalp morphology	29072	SETD2	OMIM:616831
HP:0001965	Abnormal scalp morphology	4858	NOVA2	OMIM:618859
HP:0001965	Abnormal scalp morphology	25871	NEPRO	OMIM:618853
HP:0001965	Abnormal scalp morphology	2245	FGD1	ORPHA:915
HP:0001965	Abnormal scalp morphology	2783	GNB2	OMIM:619503
HP:0001965	Abnormal scalp morphology	79633	FAT4	OMIM:615546
HP:0001965	Abnormal scalp morphology	26057	ANKRD17	OMIM:619504
HP:0001965	Abnormal scalp morphology	3720	JARID2	OMIM:620098
HP:0001965	Abnormal scalp morphology	6578	SLCO2A1	OMIM:167100
HP:0001965	Abnormal scalp morphology	6578	SLCO2A1	ORPHA:2796
HP:0001965	Abnormal scalp morphology	54820	NDE1	OMIM:605013
HP:0001965	Abnormal scalp morphology	3248	HPGD	ORPHA:2796
HP:0001965	Abnormal scalp morphology	6868	ADAM17	ORPHA:294023
HP:0001965	Abnormal scalp morphology	1956	EGFR	ORPHA:294023
HP:0001965	Abnormal scalp morphology	4488	MSX2	ORPHA:60015
HP:0001965	Abnormal scalp morphology	60529	ALX4	ORPHA:60015
HP:0001966	Abnormal glomerular mesangium morphology	2335	FN1	ORPHA:84090
HP:0001966	Abnormal glomerular mesangium morphology	112858	TP53RK	OMIM:617730
HP:0001966	Abnormal glomerular mesangium morphology	396	ARHGDIA	OMIM:615244
HP:0001966	Abnormal glomerular mesangium morphology	396	ARHGDIA	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	51004	COQ6	OMIM:614650
HP:0001966	Abnormal glomerular mesangium morphology	9688	NUP93	OMIM:616892
HP:0001966	Abnormal glomerular mesangium morphology	9688	NUP93	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	10677	AVIL	OMIM:618594
HP:0001966	Abnormal glomerular mesangium morphology	100	ADA	OMIM:102700
HP:0001966	Abnormal glomerular mesangium morphology	57122	NUP107	OMIM:616730
HP:0001966	Abnormal glomerular mesangium morphology	57122	NUP107	OMIM:618348
HP:0001966	Abnormal glomerular mesangium morphology	57122	NUP107	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	84520	GON7	OMIM:619603
HP:0001966	Abnormal glomerular mesangium morphology	7490	WT1	OMIM:256370
HP:0001966	Abnormal glomerular mesangium morphology	7490	WT1	OMIM:194080
HP:0001966	Abnormal glomerular mesangium morphology	7490	WT1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	84942	WDR73	OMIM:251300
HP:0001966	Abnormal glomerular mesangium morphology	55644	OSGEP	OMIM:617729
HP:0001966	Abnormal glomerular mesangium morphology	3913	LAMB2	OMIM:609049
HP:0001966	Abnormal glomerular mesangium morphology	51196	PLCE1	OMIM:610725
HP:0001966	Abnormal glomerular mesangium morphology	51196	PLCE1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	79693	YRDC	OMIM:619609
HP:0001966	Abnormal glomerular mesangium morphology	4868	NPHS1	OMIM:256300
HP:0001966	Abnormal glomerular mesangium morphology	4868	NPHS1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	23607	CD2AP	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	4643	MYO1E	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	64423	INF2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	26130	GAPVD1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	51479	ANKFY1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	54443	ANLN	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	5800	PTPRO	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	286204	CRB2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	23165	NUP205	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	2013	EMP2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	79023	NUP37	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	79902	NUP85	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	1285	COL4A3	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	79934	COQ8B	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	23279	NUP160	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	9863	MAGI2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	81	ACTN4	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	7225	TRPC6	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	8542	APOL1	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	54885	TBC1D8B	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	7827	NPHS2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	83478	ARHGAP24	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	23500	DAAM2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	5076	PAX2	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	55746	NUP133	ORPHA:656
HP:0001966	Abnormal glomerular mesangium morphology	1314	COPA	OMIM:616414
HP:0001966	Abnormal glomerular mesangium morphology	348	APOE	OMIM:611771
HP:0001966	Abnormal glomerular mesangium morphology	10253	SPRY2	OMIM:616818
HP:0001966	Abnormal glomerular mesangium morphology	55243	KIRREL1	OMIM:619201
HP:0001966	Abnormal glomerular mesangium morphology	8879	SGPL1	OMIM:617575
HP:0001966	Abnormal glomerular mesangium morphology	81494	CFHR5	OMIM:614809
HP:0001966	Abnormal glomerular mesangium morphology	975	CD81	OMIM:613496
HP:0001967	Diffuse mesangial sclerosis	112858	TP53RK	OMIM:617730
HP:0001967	Diffuse mesangial sclerosis	396	ARHGDIA	OMIM:615244
HP:0001967	Diffuse mesangial sclerosis	396	ARHGDIA	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	8879	SGPL1	OMIM:617575
HP:0001967	Diffuse mesangial sclerosis	51004	COQ6	OMIM:614650
HP:0001967	Diffuse mesangial sclerosis	9688	NUP93	OMIM:616892
HP:0001967	Diffuse mesangial sclerosis	9688	NUP93	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	10677	AVIL	OMIM:618594
HP:0001967	Diffuse mesangial sclerosis	100	ADA	OMIM:102700
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	OMIM:616730
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	OMIM:618348
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	84520	GON7	OMIM:619603
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	OMIM:256370
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	OMIM:194080
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	84942	WDR73	OMIM:251300
HP:0001967	Diffuse mesangial sclerosis	55644	OSGEP	OMIM:617729
HP:0001967	Diffuse mesangial sclerosis	3913	LAMB2	OMIM:609049
HP:0001967	Diffuse mesangial sclerosis	51196	PLCE1	OMIM:610725
HP:0001967	Diffuse mesangial sclerosis	51196	PLCE1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79693	YRDC	OMIM:619609
HP:0001967	Diffuse mesangial sclerosis	4868	NPHS1	OMIM:256300
HP:0001967	Diffuse mesangial sclerosis	4868	NPHS1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23607	CD2AP	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	4643	MYO1E	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	64423	INF2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	26130	GAPVD1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	51479	ANKFY1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	54443	ANLN	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	5800	PTPRO	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	286204	CRB2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23165	NUP205	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	2013	EMP2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79023	NUP37	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79902	NUP85	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	1285	COL4A3	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79934	COQ8B	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23279	NUP160	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	9863	MAGI2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	81	ACTN4	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	7225	TRPC6	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	8542	APOL1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	54885	TBC1D8B	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	7827	NPHS2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	83478	ARHGAP24	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23500	DAAM2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	5076	PAX2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	55746	NUP133	ORPHA:656
HP:0001970	Tubulointerstitial nephritis	9056	SLC7A7	ORPHA:470
HP:0001970	Tubulointerstitial nephritis	57107	PDSS2	ORPHA:255249
HP:0001970	Tubulointerstitial nephritis	27235	COQ2	ORPHA:255249
HP:0001970	Tubulointerstitial nephritis	10463	SLC30A9	OMIM:617595
HP:0001970	Tubulointerstitial nephritis	11222	MRPL3	OMIM:614582
HP:0001970	Tubulointerstitial nephritis	50943	FOXP3	ORPHA:37042
HP:0001970	Tubulointerstitial nephritis	1801	DPH1	OMIM:616901
HP:0001970	Tubulointerstitial nephritis	1801	DPH1	ORPHA:459061
HP:0001970	Tubulointerstitial nephritis	1376	CPT2	ORPHA:228302
HP:0001970	Tubulointerstitial nephritis	1376	CPT2	ORPHA:228308
HP:0001970	Tubulointerstitial nephritis	2303	FOXC2	ORPHA:33001
HP:0001970	Tubulointerstitial nephritis	26146	TRAF3IP1	OMIM:616629
HP:0001970	Tubulointerstitial nephritis	7840	ALMS1	OMIM:203800
HP:0001970	Tubulointerstitial nephritis	4594	MMUT	OMIM:251000
HP:0001970	Tubulointerstitial nephritis	83480	PUS3	ORPHA:488627
HP:0001970	Tubulointerstitial nephritis	55764	IFT122	OMIM:218330
HP:0001970	Tubulointerstitial nephritis	51134	CEP83	OMIM:615862
HP:0001970	Tubulointerstitial nephritis	4582	MUC1	OMIM:174000
HP:0001970	Tubulointerstitial nephritis	1188	CLCNKB	ORPHA:358
HP:0001970	Tubulointerstitial nephritis	6559	SLC12A3	ORPHA:358
HP:0001970	Tubulointerstitial nephritis	617	BCS1L	OMIM:124000
HP:0001970	Tubulointerstitial nephritis	56244	BTNL2	ORPHA:797
HP:0001970	Tubulointerstitial nephritis	3123	HLA-DRB1	ORPHA:797
HP:0001970	Tubulointerstitial nephritis	22909	FAN1	OMIM:614817
HP:0001970	Tubulointerstitial nephritis	57728	WDR19	OMIM:614376
HP:0001970	Tubulointerstitial nephritis	27130	INVS	OMIM:602088
HP:0001971	Hypersplenism	9968	MED12	OMIM:301068
HP:0001971	Hypersplenism	171023	ASXL1	ORPHA:98850
HP:0001971	Hypersplenism	54790	TET2	ORPHA:98850
HP:0001971	Hypersplenism	867	CBL	ORPHA:98850
HP:0001971	Hypersplenism	861	RUNX1	ORPHA:98850
HP:0001971	Hypersplenism	6427	SRSF2	ORPHA:98850
HP:0001971	Hypersplenism	355	FAS	ORPHA:3261
HP:0001971	Hypersplenism	356	FASLG	ORPHA:3261
HP:0001971	Hypersplenism	5580	PRKCD	ORPHA:3261
HP:0001971	Hypersplenism	843	CASP10	ORPHA:3261
HP:0001971	Hypersplenism	10125	RASGRP1	ORPHA:3261
HP:0001971	Hypersplenism	6609	SMPD1	ORPHA:77293
HP:0001971	Hypersplenism	2629	GBA1	OMIM:230800
HP:0001971	Hypersplenism	2629	GBA1	ORPHA:77259
HP:0001971	Hypersplenism	3043	HBB	ORPHA:231226
HP:0001971	Hypersplenism	3043	HBB	ORPHA:231214
HP:0001971	Hypersplenism	83737	ITCH	OMIM:613385
HP:0001971	Hypersplenism	83737	ITCH	ORPHA:228426
HP:0001971	Hypersplenism	7289	TULP3	OMIM:619902
HP:0001971	Hypersplenism	3988	LIPA	OMIM:278000
HP:0001971	Hypersplenism	4851	NOTCH1	OMIM:616028
HP:0001971	Hypersplenism	199221	DZIP1L	ORPHA:731
HP:0001971	Hypersplenism	5314	PKHD1	ORPHA:731
HP:0001971	Hypersplenism	5660	PSAP	OMIM:610539
HP:0001971	Hypersplenism	950	SCARB2	ORPHA:77259
HP:0001972	Macrocytic anemia	8029	CUBN	ORPHA:35858
HP:0001972	Macrocytic anemia	8029	CUBN	OMIM:261100
HP:0001972	Macrocytic anemia	81693	AMN	ORPHA:35858
HP:0001972	Macrocytic anemia	81693	AMN	OMIM:618882
HP:0001972	Macrocytic anemia	10841	FTCD	ORPHA:51208
HP:0001972	Macrocytic anemia	10841	FTCD	OMIM:229100
HP:0001972	Macrocytic anemia	2694	CBLIF	OMIM:261000
HP:0001972	Macrocytic anemia	25974	MMACHC	ORPHA:79282
HP:0001972	Macrocytic anemia	25974	MMACHC	OMIM:277400
HP:0001972	Macrocytic anemia	55788	LMBRD1	ORPHA:79284
HP:0001972	Macrocytic anemia	55788	LMBRD1	OMIM:277380
HP:0001972	Macrocytic anemia	27249	MMADHC	OMIM:277410
HP:0001972	Macrocytic anemia	1719	DHFR	OMIM:613839
HP:0001972	Macrocytic anemia	4552	MTRR	OMIM:236270
HP:0001972	Macrocytic anemia	3251	HPRT1	OMIM:300322
HP:0001972	Macrocytic anemia	7466	WFS1	OMIM:222300
HP:0001972	Macrocytic anemia	4522	MTHFD1	OMIM:617780
HP:0001972	Macrocytic anemia	26227	PHGDH	OMIM:601815
HP:0001972	Macrocytic anemia	26227	PHGDH	ORPHA:79351
HP:0001972	Macrocytic anemia	4548	MTR	OMIM:250940
HP:0001972	Macrocytic anemia	5052	PRDX1	OMIM:277400
HP:0001972	Macrocytic anemia	10059	DNM1L	ORPHA:98673
HP:0001972	Macrocytic anemia	4976	OPA1	ORPHA:98673
HP:0001972	Macrocytic anemia	212	ALAS2	OMIM:300751
HP:0001972	Macrocytic anemia	7167	TPI1	OMIM:615512
HP:0001972	Macrocytic anemia	119559	SFXN4	OMIM:615578
HP:0001972	Macrocytic anemia	6023	RMRP	OMIM:250250
HP:0001972	Macrocytic anemia	51520	LARS1	OMIM:615438
HP:0001972	Macrocytic anemia	54790	TET2	ORPHA:98826
HP:0001972	Macrocytic anemia	6948	TCN2	OMIM:275350
HP:0001972	Macrocytic anemia	3117	HLA-DQA1	OMIM:212750
HP:0001972	Macrocytic anemia	3119	HLA-DQB1	OMIM:212750
HP:0001972	Macrocytic anemia	6521	SLC4A1	ORPHA:3202
HP:0001972	Macrocytic anemia	9780	PIEZO1	ORPHA:3202
HP:0001972	Macrocytic anemia	3783	KCNN4	ORPHA:3202
HP:0001972	Macrocytic anemia	5700	PSMC1	OMIM:620071
HP:0001972	Macrocytic anemia	7317	UBA1	OMIM:301054
HP:0001972	Macrocytic anemia	1352	COX10	OMIM:619046
HP:0001972	Macrocytic anemia	5880	RAC2	OMIM:608203
HP:0001972	Macrocytic anemia	9493	KIF23	OMIM:105600
HP:0001972	Macrocytic anemia	6005	RHAG	ORPHA:71275
HP:0001972	Macrocytic anemia	6006	RHCE	ORPHA:71275
HP:0001972	Macrocytic anemia	6007	RHD	ORPHA:71275
HP:0001972	Macrocytic anemia	134218	DNAJC21	ORPHA:811
HP:0001972	Macrocytic anemia	79631	EFL1	ORPHA:811
HP:0001972	Macrocytic anemia	51119	SBDS	ORPHA:811
HP:0001972	Macrocytic anemia	6729	SRP54	ORPHA:811
HP:0001972	Macrocytic anemia	7372	UMPS	OMIM:258900
HP:0001972	Macrocytic anemia	113235	SLC46A1	OMIM:229050
HP:0001972	Macrocytic anemia	6573	SLC19A1	OMIM:601775
HP:0001972	Macrocytic anemia	10560	SLC19A2	OMIM:249270
HP:0001972	Macrocytic anemia	6208	RPS14	OMIM:153550
HP:0001972	Macrocytic anemia	6135	RPL11	ORPHA:124
HP:0001972	Macrocytic anemia	6138	RPL15	ORPHA:124
HP:0001972	Macrocytic anemia	6229	RPS24	ORPHA:124
HP:0001972	Macrocytic anemia	6125	RPL5	ORPHA:124
HP:0001972	Macrocytic anemia	6204	RPS10	ORPHA:124
HP:0001972	Macrocytic anemia	6224	RPS20	ORPHA:124
HP:0001972	Macrocytic anemia	6165	RPL35A	ORPHA:124
HP:0001972	Macrocytic anemia	2623	GATA1	ORPHA:124
HP:0001972	Macrocytic anemia	6223	RPS19	ORPHA:124
HP:0001972	Macrocytic anemia	6232	RPS27	ORPHA:124
HP:0001972	Macrocytic anemia	6231	RPS26	ORPHA:124
HP:0001972	Macrocytic anemia	11224	RPL35	ORPHA:124
HP:0001972	Macrocytic anemia	6160	RPL31	ORPHA:124
HP:0001972	Macrocytic anemia	6218	RPS17	ORPHA:124
HP:0001972	Macrocytic anemia	6201	RPS7	ORPHA:124
HP:0001972	Macrocytic anemia	6155	RPL27	ORPHA:124
HP:0001972	Macrocytic anemia	6154	RPL26	ORPHA:124
HP:0001972	Macrocytic anemia	6210	RPS15A	ORPHA:124
HP:0001972	Macrocytic anemia	90121	TSR2	ORPHA:124
HP:0001972	Macrocytic anemia	6141	RPL18	ORPHA:124
HP:0001972	Macrocytic anemia	6235	RPS29	ORPHA:124
HP:0001972	Macrocytic anemia	6234	RPS28	ORPHA:124
HP:0001972	Macrocytic anemia	51816	ADA2	ORPHA:124
HP:0001972	Macrocytic anemia	29127	RACGAP1	OMIM:619789
HP:0001972	Macrocytic anemia	146059	CDAN1	OMIM:224120
HP:0001974	Leukocytosis	355	FAS	ORPHA:3261
HP:0001974	Leukocytosis	355	FAS	OMIM:601859
HP:0001974	Leukocytosis	356	FASLG	ORPHA:3261
HP:0001974	Leukocytosis	356	FASLG	OMIM:601859
HP:0001974	Leukocytosis	5580	PRKCD	ORPHA:3261
HP:0001974	Leukocytosis	843	CASP10	ORPHA:3261
HP:0001974	Leukocytosis	843	CASP10	OMIM:603909
HP:0001974	Leukocytosis	10125	RASGRP1	ORPHA:3261
HP:0001974	Leukocytosis	7454	WAS	OMIM:301000
HP:0001974	Leukocytosis	30009	TBX21	OMIM:619630
HP:0001974	Leukocytosis	5159	PDGFRB	OMIM:131440
HP:0001974	Leukocytosis	6774	STAT3	OMIM:615952
HP:0001974	Leukocytosis	6774	STAT3	OMIM:147060
HP:0001974	Leukocytosis	6774	STAT3	ORPHA:2314
HP:0001974	Leukocytosis	5238	PGM3	ORPHA:443811
HP:0001974	Leukocytosis	5238	PGM3	OMIM:615816
HP:0001974	Leukocytosis	171023	ASXL1	ORPHA:98849
HP:0001974	Leukocytosis	54790	TET2	ORPHA:98849
HP:0001974	Leukocytosis	3815	KIT	ORPHA:98849
HP:0001974	Leukocytosis	6427	SRSF2	ORPHA:98849
HP:0001974	Leukocytosis	100151683	RNU4ATAC	ORPHA:353298
HP:0001974	Leukocytosis	100151683	RNU4ATAC	OMIM:616651
HP:0001974	Leukocytosis	5156	PDGFRA	OMIM:607685
HP:0001974	Leukocytosis	6023	RMRP	ORPHA:39041
HP:0001974	Leukocytosis	55636	CHD7	ORPHA:39041
HP:0001974	Leukocytosis	3981	LIG4	ORPHA:39041
HP:0001974	Leukocytosis	5896	RAG1	ORPHA:39041
HP:0001974	Leukocytosis	5896	RAG1	OMIM:603554
HP:0001974	Leukocytosis	5896	RAG1	ORPHA:331206
HP:0001974	Leukocytosis	5897	RAG2	ORPHA:39041
HP:0001974	Leukocytosis	5897	RAG2	OMIM:603554
HP:0001974	Leukocytosis	5897	RAG2	ORPHA:331206
HP:0001974	Leukocytosis	64421	DCLRE1C	ORPHA:39041
HP:0001974	Leukocytosis	64421	DCLRE1C	OMIM:603554
HP:0001974	Leukocytosis	64421	DCLRE1C	OMIM:602450
HP:0001974	Leukocytosis	100	ADA	ORPHA:39041
HP:0001974	Leukocytosis	100	ADA	OMIM:102700
HP:0001974	Leukocytosis	3575	IL7R	ORPHA:39041
HP:0001974	Leukocytosis	3575	IL7R	ORPHA:169154
HP:0001974	Leukocytosis	3561	IL2RG	ORPHA:39041
HP:0001974	Leukocytosis	50943	FOXP3	OMIM:304790
HP:0001974	Leukocytosis	825	CAPN3	OMIM:253600
HP:0001974	Leukocytosis	113235	SLC46A1	ORPHA:90045
HP:0001974	Leukocytosis	1041	CDSN	OMIM:270300
HP:0001974	Leukocytosis	8517	IKBKG	ORPHA:464
HP:0001974	Leukocytosis	8517	IKBKG	OMIM:308300
HP:0001974	Leukocytosis	6720	SREBF1	OMIM:158310
HP:0001974	Leukocytosis	2137	EXTL3	OMIM:617425
HP:0001974	Leukocytosis	3716	JAK1	OMIM:618999
HP:0001974	Leukocytosis	5294	PIK3CG	OMIM:619802
HP:0001974	Leukocytosis	114548	NLRP3	OMIM:607115
HP:0001974	Leukocytosis	84905	ZNF341	OMIM:618282
HP:0001974	Leukocytosis	915	CD3D	ORPHA:169160
HP:0001974	Leukocytosis	916	CD3E	ORPHA:169160
HP:0001974	Leukocytosis	919	CD247	ORPHA:169160
HP:0001974	Leukocytosis	919	CD247	OMIM:610163
HP:0001974	Leukocytosis	10999	SLC27A4	ORPHA:88621
HP:0001974	Leukocytosis	3394	IRF8	OMIM:226990
HP:0001974	Leukocytosis	64919	BCL11B	OMIM:617237
HP:0001974	Leukocytosis	64919	BCL11B	OMIM:618092
HP:0001974	Leukocytosis	3572	IL6ST	OMIM:618523
HP:0001974	Leukocytosis	84433	CARD11	OMIM:617638
HP:0001974	Leukocytosis	9939	RBM8A	OMIM:274000
HP:0001974	Leukocytosis	10312	TCIRG1	ORPHA:486
HP:0001974	Leukocytosis	1991	ELANE	ORPHA:486
HP:0001974	Leukocytosis	1991	ELANE	OMIM:202700
HP:0001974	Leukocytosis	2672	GFI1	ORPHA:486
HP:0001974	Leukocytosis	6729	SRP54	ORPHA:486
HP:0001974	Leukocytosis	81570	CLPB	ORPHA:486
HP:0001974	Leukocytosis	81704	DOCK8	OMIM:243700
HP:0001974	Leukocytosis	7535	ZAP70	ORPHA:911
HP:0001974	Leukocytosis	56244	BTNL2	ORPHA:797
HP:0001974	Leukocytosis	3123	HLA-DRB1	ORPHA:797
HP:0001974	Leukocytosis	867	CBL	ORPHA:98850
HP:0001974	Leukocytosis	861	RUNX1	ORPHA:98850
HP:0001974	Leukocytosis	861	RUNX1	ORPHA:521
HP:0001974	Leukocytosis	3689	ITGB2	OMIM:116920
HP:0001974	Leukocytosis	3155	HMGCL	ORPHA:20
HP:0001974	Leukocytosis	90268	OTULIN	OMIM:617099
HP:0001974	Leukocytosis	27178	IL37	OMIM:619398
HP:0001974	Leukocytosis	8573	CASK	OMIM:300908
HP:0001974	Leukocytosis	2539	G6PD	OMIM:300908
HP:0001974	Leukocytosis	4598	MVK	OMIM:260920
HP:0001974	Leukocytosis	4598	MVK	OMIM:610377
HP:0001974	Leukocytosis	811	CALR	ORPHA:824
HP:0001974	Leukocytosis	4352	MPL	ORPHA:824
HP:0001974	Leukocytosis	3717	JAK2	ORPHA:824
HP:0001974	Leukocytosis	3717	JAK2	OMIM:263300
HP:0001974	Leukocytosis	7518	XRCC4	ORPHA:99812
HP:0001974	Leukocytosis	5314	PKHD1	ORPHA:53035
HP:0001974	Leukocytosis	23451	SF3B1	ORPHA:75564
HP:0001974	Leukocytosis	5293	PIK3CD	OMIM:619281
HP:0001974	Leukocytosis	4210	MEFV	OMIM:249100
HP:0001974	Leukocytosis	4210	MEFV	ORPHA:3243
HP:0001974	Leukocytosis	8882	ZPR1	OMIM:619321
HP:0001974	Leukocytosis	3459	IFNGR1	OMIM:209950
HP:0001974	Leukocytosis	7132	TNFRSF1A	ORPHA:32960
HP:0001974	Leukocytosis	9663	LPIN2	ORPHA:77297
HP:0001974	Leukocytosis	84196	USP48	ORPHA:96253
HP:0001974	Leukocytosis	7157	TP53	ORPHA:96253
HP:0001974	Leukocytosis	9101	USP8	ORPHA:96253
HP:0001974	Leukocytosis	64072	CDH23	ORPHA:96253
HP:0001974	Leukocytosis	2908	NR3C1	ORPHA:96253
HP:0001974	Leukocytosis	673	BRAF	ORPHA:96253
HP:0001974	Leukocytosis	546	ATRX	ORPHA:96253
HP:0001974	Leukocytosis	3043	HBB	OMIM:603903
HP:0001974	Leukocytosis	3043	HBB	ORPHA:232
HP:0001974	Leukocytosis	3043	HBB	ORPHA:231222
HP:0001974	Leukocytosis	10616	RBCK1	OMIM:615895
HP:0001974	Leukocytosis	6773	STAT2	OMIM:618886
HP:0001974	Leukocytosis	2624	GATA2	ORPHA:98827
HP:0001974	Leukocytosis	2624	GATA2	ORPHA:3226
HP:0001974	Leukocytosis	26525	IL36RN	OMIM:614204
HP:0001974	Leukocytosis	22852	ANKRD26	OMIM:188000
HP:0001974	Leukocytosis	57167	SALL4	ORPHA:2307
HP:0001974	Leukocytosis	57167	SALL4	OMIM:147750
HP:0001974	Leukocytosis	11330	CTRC	ORPHA:676
HP:0001974	Leukocytosis	5644	PRSS1	ORPHA:676
HP:0001974	Leukocytosis	5645	PRSS2	ORPHA:676
HP:0001974	Leukocytosis	6690	SPINK1	ORPHA:676
HP:0001974	Leukocytosis	846	CASR	ORPHA:676
HP:0001974	Leukocytosis	1080	CFTR	ORPHA:676
HP:0001974	Leukocytosis	1357	CPA1	ORPHA:676
HP:0001974	Leukocytosis	57217	TTC7A	OMIM:243150
HP:0001974	Leukocytosis	10367	MICU1	OMIM:615673
HP:0001974	Leukocytosis	83706	FERMT3	OMIM:612840
HP:0001974	Leukocytosis	374354	NHLRC2	OMIM:618278
HP:0001974	Leukocytosis	144811	LACC1	OMIM:618795
HP:0001974	Leukocytosis	51816	ADA2	OMIM:615688
HP:0001974	Leukocytosis	91662	NLRP12	OMIM:611762
HP:0001974	Leukocytosis	5880	RAC2	OMIM:608203
HP:0001974	Leukocytosis	5880	RAC2	ORPHA:183707
HP:0001974	Leukocytosis	10551	AGR2	OMIM:620233
HP:0001974	Leukocytosis	55343	SLC35C1	ORPHA:99843
HP:0001974	Leukocytosis	38	ACAT1	ORPHA:134
HP:0001974	Leukocytosis	4938	OAS1	OMIM:618042
HP:0001974	Leukocytosis	3458	IFNG	OMIM:618963
HP:0001974	Leukocytosis	28962	OSTM1	OMIM:259720
HP:0001974	Leukocytosis	613	BCR	ORPHA:521
HP:0001974	Leukocytosis	25	ABL1	ORPHA:521
HP:0001974	Leukocytosis	5371	PML	ORPHA:520
HP:0001974	Leukocytosis	5914	RARA	ORPHA:520
HP:0001974	Leukocytosis	359948	IRF2BP2	ORPHA:520
HP:0001974	Leukocytosis	81608	FIP1L1	ORPHA:520
HP:0001974	Leukocytosis	4869	NPM1	ORPHA:520
HP:0001974	Leukocytosis	5573	PRKAR1A	ORPHA:520
HP:0001974	Leukocytosis	54880	BCOR	ORPHA:520
HP:0001974	Leukocytosis	64859	NABP1	ORPHA:520
HP:0001974	Leukocytosis	6777	STAT5B	ORPHA:520
HP:0001974	Leukocytosis	4926	NUMA1	ORPHA:520
HP:0001974	Leukocytosis	7704	ZBTB16	ORPHA:520
HP:0001974	Leukocytosis	79718	TBL1XR1	ORPHA:520
HP:0001974	Leukocytosis	7040	TGFB1	OMIM:618213
HP:0001974	Leukocytosis	7187	TRAF3	ORPHA:1930
HP:0001974	Leukocytosis	81622	UNC93B1	ORPHA:1930
HP:0001974	Leukocytosis	148022	TICAM1	ORPHA:1930
HP:0001974	Leukocytosis	7098	TLR3	ORPHA:1930
HP:0001974	Leukocytosis	29110	TBK1	ORPHA:1930
HP:0001974	Leukocytosis	5788	PTPRC	OMIM:619924
HP:0001974	Leukocytosis	3071	NCKAP1L	OMIM:618982
HP:0001974	Leukocytosis	11005	SPINK5	OMIM:256500
HP:0001974	Leukocytosis	64170	CARD9	OMIM:212050
HP:0001974	Leukocytosis	10526	IPO8	OMIM:619472
HP:0001974	Leukocytosis	28755	TRAC	OMIM:615387
HP:0001974	Leukocytosis	22861	NLRP1	OMIM:617388
HP:0001974	Leukocytosis	2000	ELF4	OMIM:301074
HP:0001974	Leukocytosis	5966	REL	OMIM:619652
HP:0001974	Leukocytosis	3845	KRAS	OMIM:614470
HP:0001974	Leukocytosis	4893	NRAS	OMIM:614470
HP:0001974	Leukocytosis	79621	RNASEH2B	OMIM:610181
HP:0001974	Leukocytosis	54914	FOCAD	OMIM:619991
HP:0001974	Leukocytosis	84823	LMNB2	ORPHA:79087
HP:0001974	Leukocytosis	10095	ARPC1B	OMIM:617718
HP:0001974	Leukocytosis	331	XIAP	OMIM:308240
HP:0001974	Leukocytosis	4068	SH2D1A	OMIM:308240
HP:0001974	Leukocytosis	9451	EIF2AK3	ORPHA:1667
HP:0001975	Decreased platelet glycoprotein IIb-IIIa	3674	ITGA2B	OMIM:273800
HP:0001975	Decreased platelet glycoprotein IIb-IIIa	3690	ITGB3	OMIM:619267
HP:0001976	Reduced antithrombin III activity	29929	ALG6	OMIM:603147
HP:0001976	Reduced antithrombin III activity	79644	SRD5A3	ORPHA:324737
HP:0001976	Reduced antithrombin III activity	79644	SRD5A3	OMIM:612379
HP:0001976	Reduced antithrombin III activity	5373	PMM2	ORPHA:79318
HP:0001976	Reduced antithrombin III activity	5373	PMM2	OMIM:212065
HP:0001976	Reduced antithrombin III activity	1798	DPAGT1	ORPHA:86309
HP:0001976	Reduced antithrombin III activity	1798	DPAGT1	OMIM:608093
HP:0001976	Reduced antithrombin III activity	4351	MPI	OMIM:602579
HP:0001976	Reduced antithrombin III activity	191	AHCY	ORPHA:88618
HP:0001976	Reduced antithrombin III activity	8813	DPM1	OMIM:608799
HP:0001976	Reduced antithrombin III activity	8813	DPM1	ORPHA:79322
HP:0001976	Reduced antithrombin III activity	5236	PGM1	OMIM:614921
HP:0001976	Reduced antithrombin III activity	8818	DPM2	ORPHA:329178
HP:0001976	Reduced antithrombin III activity	2542	SLC37A4	OMIM:619525
HP:0001976	Reduced antithrombin III activity	462	SERPINC1	OMIM:613118
HP:0001976	Reduced antithrombin III activity	462	SERPINC1	ORPHA:82
HP:0001976	Reduced antithrombin III activity	79053	ALG8	OMIM:608104
HP:0001976	Reduced antithrombin III activity	79053	ALG8	ORPHA:79325
HP:0001976	Reduced antithrombin III activity	4247	MGAT2	OMIM:212066
HP:0001976	Reduced antithrombin III activity	2683	B4GALT1	ORPHA:79332
HP:0001976	Reduced antithrombin III activity	79087	ALG12	OMIM:607143
HP:0001977	Abnormal thrombosis	3784	KCNQ1	OMIM:607554
HP:0001977	Abnormal thrombosis	51816	ADA2	ORPHA:820
HP:0001977	Abnormal thrombosis	2161	F12	ORPHA:330
HP:0001977	Abnormal thrombosis	2162	F13A1	OMIM:188050
HP:0001977	Abnormal thrombosis	3026	HABP2	OMIM:188050
HP:0001977	Abnormal thrombosis	4524	MTHFR	OMIM:188050
HP:0001977	Abnormal thrombosis	6331	SCN5A	ORPHA:1344
HP:0001977	Abnormal thrombosis	4878	NPPA	ORPHA:1344
HP:0001977	Abnormal thrombosis	4519	MT-CYB	ORPHA:137675
HP:0001977	Abnormal thrombosis	25974	MMACHC	ORPHA:79282
HP:0001977	Abnormal thrombosis	25974	MMACHC	OMIM:277400
HP:0001977	Abnormal thrombosis	84665	MYPN	ORPHA:75249
HP:0001977	Abnormal thrombosis	2318	FLNC	ORPHA:75249
HP:0001977	Abnormal thrombosis	7139	TNNT2	ORPHA:75249
HP:0001977	Abnormal thrombosis	7137	TNNI3	ORPHA:75249
HP:0001977	Abnormal thrombosis	10112	KIF20A	ORPHA:75249
HP:0001977	Abnormal thrombosis	6521	SLC4A1	ORPHA:3202
HP:0001977	Abnormal thrombosis	9780	PIEZO1	ORPHA:3202
HP:0001977	Abnormal thrombosis	3783	KCNN4	ORPHA:3202
HP:0001977	Abnormal thrombosis	7317	UBA1	OMIM:301054
HP:0001977	Abnormal thrombosis	3777	KCNK3	OMIM:615344
HP:0001977	Abnormal thrombosis	7276	TTR	ORPHA:85451
HP:0001977	Abnormal thrombosis	4552	MTRR	ORPHA:2169
HP:0001977	Abnormal thrombosis	5573	PRKAR1A	ORPHA:615
HP:0001977	Abnormal thrombosis	5573	PRKAR1A	ORPHA:1359
HP:0001977	Abnormal thrombosis	10370	CITED2	ORPHA:99105
HP:0001977	Abnormal thrombosis	5052	PRDX1	OMIM:277400
HP:0001977	Abnormal thrombosis	7092	TLL1	ORPHA:99106
HP:0001977	Abnormal thrombosis	50940	PDE11A	ORPHA:1359
HP:0001977	Abnormal thrombosis	4351	MPI	ORPHA:79319
HP:0001977	Abnormal thrombosis	4351	MPI	OMIM:602579
HP:0001977	Abnormal thrombosis	81031	SLC2A10	OMIM:208050
HP:0001977	Abnormal thrombosis	91869	RFT1	ORPHA:244310
HP:0001977	Abnormal thrombosis	6005	RHAG	ORPHA:3203
HP:0001977	Abnormal thrombosis	4627	MYH9	OMIM:155100
HP:0001977	Abnormal thrombosis	659	BMPR2	OMIM:178600
HP:0001977	Abnormal thrombosis	5340	PLG	OMIM:217090
HP:0001977	Abnormal thrombosis	5373	PMM2	ORPHA:79318
HP:0001977	Abnormal thrombosis	2153	F5	OMIM:188055
HP:0001977	Abnormal thrombosis	2158	F9	OMIM:300807
HP:0001977	Abnormal thrombosis	7056	THBD	OMIM:614486
HP:0001977	Abnormal thrombosis	29929	ALG6	ORPHA:79320
HP:0001977	Abnormal thrombosis	2157	F8	OMIM:301071
HP:0001977	Abnormal thrombosis	5624	PROC	OMIM:612304
HP:0001977	Abnormal thrombosis	5624	PROC	OMIM:176860
HP:0001977	Abnormal thrombosis	3717	JAK2	OMIM:133100
HP:0001977	Abnormal thrombosis	10019	SH2B3	OMIM:133100
HP:0001977	Abnormal thrombosis	2057	EPOR	OMIM:133100
HP:0001977	Abnormal thrombosis	7428	VHL	OMIM:263400
HP:0001977	Abnormal thrombosis	9692	PRORP	OMIM:619737
HP:0001977	Abnormal thrombosis	7042	TGFB2	OMIM:614816
HP:0001977	Abnormal thrombosis	26191	PTPN22	ORPHA:397
HP:0001977	Abnormal thrombosis	3106	HLA-B	ORPHA:397
HP:0001977	Abnormal thrombosis	3106	HLA-B	ORPHA:117
HP:0001977	Abnormal thrombosis	3123	HLA-DRB1	ORPHA:397
HP:0001977	Abnormal thrombosis	8974	P4HA2	ORPHA:397
HP:0001977	Abnormal thrombosis	4352	MPL	ORPHA:71493
HP:0001977	Abnormal thrombosis	4352	MPL	ORPHA:729
HP:0001977	Abnormal thrombosis	4352	MPL	ORPHA:824
HP:0001977	Abnormal thrombosis	4352	MPL	ORPHA:3318
HP:0001977	Abnormal thrombosis	7066	THPO	ORPHA:71493
HP:0001977	Abnormal thrombosis	875	CBS	ORPHA:394
HP:0001977	Abnormal thrombosis	54790	TET2	ORPHA:729
HP:0001977	Abnormal thrombosis	54790	TET2	ORPHA:824
HP:0001977	Abnormal thrombosis	54790	TET2	ORPHA:3318
HP:0001977	Abnormal thrombosis	4625	MYH7	ORPHA:1880
HP:0001977	Abnormal thrombosis	811	CALR	ORPHA:824
HP:0001977	Abnormal thrombosis	811	CALR	ORPHA:3318
HP:0001977	Abnormal thrombosis	462	SERPINC1	ORPHA:82
HP:0001977	Abnormal thrombosis	9103	FCGR2C	ORPHA:3002
HP:0001977	Abnormal thrombosis	2147	F2	ORPHA:325
HP:0001977	Abnormal thrombosis	5627	PROS1	ORPHA:743
HP:0001977	Abnormal thrombosis	5627	PROS1	OMIM:614514
HP:0001977	Abnormal thrombosis	5627	PROS1	OMIM:612336
HP:0001977	Abnormal thrombosis	5728	PTEN	ORPHA:744
HP:0001977	Abnormal thrombosis	207	AKT1	ORPHA:744
HP:0001977	Abnormal thrombosis	5277	PIGA	ORPHA:447
HP:0001977	Abnormal thrombosis	7157	TP53	ORPHA:3318
HP:0001977	Abnormal thrombosis	149233	IL23R	ORPHA:117
HP:0001977	Abnormal thrombosis	6775	STAT4	ORPHA:117
HP:0001977	Abnormal thrombosis	3586	IL10	ORPHA:117
HP:0001977	Abnormal thrombosis	4210	MEFV	ORPHA:117
HP:0001977	Abnormal thrombosis	1230	CCR1	ORPHA:117
HP:0001977	Abnormal thrombosis	355	FAS	ORPHA:117
HP:0001977	Abnormal thrombosis	3592	IL12A	ORPHA:117
HP:0001977	Abnormal thrombosis	101928376	IL12A-AS1	ORPHA:117
HP:0001977	Abnormal thrombosis	7099	TLR4	ORPHA:117
HP:0001977	Abnormal thrombosis	3459	IFNGR1	ORPHA:117
HP:0001977	Abnormal thrombosis	720	C4A	ORPHA:117
HP:0001977	Abnormal thrombosis	337867	UBAC2	ORPHA:117
HP:0001977	Abnormal thrombosis	51752	ERAP1	ORPHA:117
HP:0001977	Abnormal thrombosis	8302	KLRC4	ORPHA:117
HP:0001977	Abnormal thrombosis	3273	HRG	OMIM:613116
HP:0001977	Abnormal thrombosis	2658	GDF2	ORPHA:774
HP:0001977	Abnormal thrombosis	94	ACVRL1	ORPHA:774
HP:0001977	Abnormal thrombosis	4089	SMAD4	ORPHA:774
HP:0001977	Abnormal thrombosis	2022	ENG	ORPHA:774
HP:0001977	Abnormal thrombosis	5745	PTH1R	ORPHA:296
HP:0001977	Abnormal thrombosis	3418	IDH2	ORPHA:296
HP:0001977	Abnormal thrombosis	3418	IDH2	ORPHA:163634
HP:0001977	Abnormal thrombosis	3417	IDH1	ORPHA:296
HP:0001977	Abnormal thrombosis	3417	IDH1	ORPHA:163634
HP:0001977	Abnormal thrombosis	3043	HBB	ORPHA:231214
HP:0001977	Abnormal thrombosis	3043	HBB	ORPHA:231226
HP:0001977	Abnormal thrombosis	55109	AGGF1	ORPHA:90308
HP:0001977	Abnormal thrombosis	5156	PDGFRA	OMIM:607685
HP:0001977	Abnormal thrombosis	1493	CTLA4	ORPHA:900
HP:0001977	Abnormal thrombosis	3115	HLA-DPB1	ORPHA:900
HP:0001977	Abnormal thrombosis	5657	PRTN3	ORPHA:900
HP:0001977	Abnormal thrombosis	3113	HLA-DPA1	ORPHA:900
HP:0001977	Abnormal thrombosis	2776	GNAQ	ORPHA:624
HP:0001977	Abnormal thrombosis	2776	GNAQ	ORPHA:3205
HP:0001977	Abnormal thrombosis	2243	FGA	ORPHA:98881
HP:0001977	Abnormal thrombosis	2244	FGB	ORPHA:98881
HP:0001977	Abnormal thrombosis	2266	FGG	ORPHA:98881
HP:0001977	Abnormal thrombosis	93183	PIGM	OMIM:610293
HP:0001977	Abnormal thrombosis	6288	SAA1	ORPHA:85445
HP:0001977	Abnormal thrombosis	3832	KIF11	ORPHA:2526
HP:0001977	Abnormal thrombosis	5144	PDE4D	ORPHA:280651
HP:0001977	Abnormal thrombosis	5236	PGM1	OMIM:614921
HP:0001977	Abnormal thrombosis	3572	IL6ST	OMIM:619751
HP:0001977	Abnormal thrombosis	3988	LIPA	OMIM:278000
HP:0001977	Abnormal thrombosis	5921	RASA1	ORPHA:90307
HP:0001977	Abnormal thrombosis	6261	RYR1	ORPHA:466650
HP:0001977	Abnormal thrombosis	6774	STAT3	ORPHA:520
HP:0001977	Abnormal thrombosis	5371	PML	ORPHA:520
HP:0001977	Abnormal thrombosis	5914	RARA	ORPHA:520
HP:0001977	Abnormal thrombosis	359948	IRF2BP2	ORPHA:520
HP:0001977	Abnormal thrombosis	81608	FIP1L1	ORPHA:520
HP:0001977	Abnormal thrombosis	4869	NPM1	ORPHA:520
HP:0001977	Abnormal thrombosis	54880	BCOR	ORPHA:520
HP:0001977	Abnormal thrombosis	64859	NABP1	ORPHA:520
HP:0001977	Abnormal thrombosis	6777	STAT5B	ORPHA:520
HP:0001977	Abnormal thrombosis	4926	NUMA1	ORPHA:520
HP:0001977	Abnormal thrombosis	7704	ZBTB16	ORPHA:520
HP:0001977	Abnormal thrombosis	79718	TBL1XR1	ORPHA:520
HP:0001977	Abnormal thrombosis	58484	NLRC4	OMIM:616050
HP:0001977	Abnormal thrombosis	9054	NFS1	OMIM:619386
HP:0001977	Abnormal thrombosis	3075	CFH	ORPHA:244242
HP:0001977	Abnormal thrombosis	3426	CFI	ORPHA:244242
HP:0001977	Abnormal thrombosis	4179	CD46	ORPHA:244242
HP:0001977	Abnormal thrombosis	101101692	HELLPAR	ORPHA:244242
HP:0001977	Abnormal thrombosis	3053	SERPIND1	OMIM:612356
HP:0001977	Abnormal thrombosis	23175	LPIN1	ORPHA:99845
HP:0001977	Abnormal thrombosis	4512	MT-CO1	ORPHA:99845
HP:0001977	Abnormal thrombosis	4514	MT-CO3	ORPHA:99845
HP:0001977	Abnormal thrombosis	4851	NOTCH1	OMIM:616028
HP:0001977	Abnormal thrombosis	4233	MET	ORPHA:33402
HP:0001977	Abnormal thrombosis	1499	CTNNB1	ORPHA:33402
HP:0001977	Abnormal thrombosis	1604	CD55	OMIM:226300
HP:0001977	Abnormal thrombosis	11330	CTRC	ORPHA:676
HP:0001977	Abnormal thrombosis	5644	PRSS1	ORPHA:676
HP:0001977	Abnormal thrombosis	5645	PRSS2	ORPHA:676
HP:0001977	Abnormal thrombosis	6690	SPINK1	ORPHA:676
HP:0001977	Abnormal thrombosis	846	CASR	ORPHA:676
HP:0001977	Abnormal thrombosis	1080	CFTR	ORPHA:676
HP:0001977	Abnormal thrombosis	1357	CPA1	ORPHA:676
HP:0001977	Abnormal thrombosis	2034	EPAS1	OMIM:611783
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231222
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231226
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231214
HP:0001978	Extramedullary hematopoiesis	23395	LARS2	OMIM:617021
HP:0001978	Extramedullary hematopoiesis	11311	VPS45	OMIM:615285
HP:0001978	Extramedullary hematopoiesis	83706	FERMT3	OMIM:612840
HP:0001978	Extramedullary hematopoiesis	811	CALR	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	4352	MPL	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	3717	JAK2	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	54790	TET2	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	2263	FGFR2	ORPHA:313855
HP:0001978	Extramedullary hematopoiesis	760	CA2	OMIM:259730
HP:0001978	Extramedullary hematopoiesis	2038	EPB42	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6521	SLC4A1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6710	SPTB	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6708	SPTA1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	286	ANK1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	8600	TNFSF11	OMIM:259710
HP:0001978	Extramedullary hematopoiesis	6718	AKR1D1	ORPHA:79303
HP:0001978	Extramedullary hematopoiesis	8241	RBM10	ORPHA:2886
HP:0001978	Extramedullary hematopoiesis	28962	OSTM1	OMIM:259720
HP:0001980	Megaloblastic bone marrow	4552	MTRR	ORPHA:2169
HP:0001980	Megaloblastic bone marrow	27249	MMADHC	ORPHA:79283
HP:0001980	Megaloblastic bone marrow	6948	TCN2	OMIM:275350
HP:0001980	Megaloblastic bone marrow	6948	TCN2	ORPHA:859
HP:0001981	Schistocytosis	10661	KLF1	OMIM:613673
HP:0001981	Schistocytosis	790	CAD	OMIM:616457
HP:0001981	Schistocytosis	6573	SLC19A1	OMIM:601775
HP:0001981	Schistocytosis	11093	ADAMTS13	OMIM:274150
HP:0001981	Schistocytosis	51095	TRNT1	OMIM:616084
HP:0001981	Schistocytosis	6521	SLC4A1	ORPHA:3202
HP:0001981	Schistocytosis	9780	PIEZO1	ORPHA:3202
HP:0001981	Schistocytosis	3783	KCNN4	ORPHA:3202
HP:0001981	Schistocytosis	3075	CFH	OMIM:235400
HP:0001981	Schistocytosis	3078	CFHR1	OMIM:235400
HP:0001981	Schistocytosis	10878	CFHR3	OMIM:235400
HP:0001981	Schistocytosis	146059	CDAN1	OMIM:224120
HP:0001981	Schistocytosis	6309	SC5D	OMIM:607330
HP:0001982	Sea-blue histiocytosis	6609	SMPD1	OMIM:607616
HP:0001982	Sea-blue histiocytosis	6609	SMPD1	OMIM:257200
HP:0001982	Sea-blue histiocytosis	10577	NPC2	OMIM:607625
HP:0001982	Sea-blue histiocytosis	2720	GLB1	OMIM:230600
HP:0001982	Sea-blue histiocytosis	348	APOE	ORPHA:158029
HP:0001982	Sea-blue histiocytosis	348	APOE	OMIM:269600
HP:0001982	Sea-blue histiocytosis	4864	NPC1	OMIM:257220
HP:0001983	Reduced lymphocyte surface expression of CD43	7454	WAS	OMIM:301000
HP:0001984	Intolerance to protein	79827	CLMP	OMIM:615237
HP:0001984	Intolerance to protein	10847	SRCAP	ORPHA:2044
HP:0001986	Hypertonic dehydration	6523	SLC5A1	OMIM:606824
HP:0001986	Hypertonic dehydration	11005	SPINK5	OMIM:256500
HP:0001986	Hypertonic dehydration	554	AVPR2	ORPHA:223
HP:0001986	Hypertonic dehydration	359	AQP2	ORPHA:223
HP:0001986	Hypertonic dehydration	771	CA12	OMIM:143860
HP:0001988	Recurrent hypoglycemia	3155	HMGCL	ORPHA:20
HP:0001988	Recurrent hypoglycemia	3643	INSR	ORPHA:263458
HP:0001988	Recurrent hypoglycemia	4791	NFKB2	ORPHA:293978
HP:0001988	Recurrent hypoglycemia	4158	MC2R	OMIM:202200
HP:0001988	Recurrent hypoglycemia	5058	PAK1	OMIM:618158
HP:0001988	Recurrent hypoglycemia	4665	NAB2	ORPHA:2126
HP:0001988	Recurrent hypoglycemia	6778	STAT6	ORPHA:2126
HP:0001988	Recurrent hypoglycemia	4358	MPV17	OMIM:256810
HP:0001988	Recurrent hypoglycemia	7351	UCP2	ORPHA:276556
HP:0001988	Recurrent hypoglycemia	5257	PHKB	ORPHA:79240
HP:0001988	Recurrent hypoglycemia	84919	PPP1R15B	OMIM:616817
HP:0001988	Recurrent hypoglycemia	56246	MRAP	OMIM:607398
HP:0001988	Recurrent hypoglycemia	4221	MEN1	ORPHA:97279
HP:0001988	Recurrent hypoglycemia	7528	YY1	ORPHA:97279
HP:0001988	Recurrent hypoglycemia	2645	GCK	ORPHA:79299
HP:0001988	Recurrent hypoglycemia	617	BCS1L	OMIM:124000
HP:0001988	Recurrent hypoglycemia	79087	ALG12	ORPHA:79324
HP:0001988	Recurrent hypoglycemia	3767	KCNJ11	ORPHA:79644
HP:0001988	Recurrent hypoglycemia	6584	SLC22A5	OMIM:212140
HP:0001989	Fetal akinesia sequence	4927	NUP88	ORPHA:994
HP:0001989	Fetal akinesia sequence	7846	TUBA1A	ORPHA:994
HP:0001989	Fetal akinesia sequence	4654	MYOD1	ORPHA:994
HP:0001989	Fetal akinesia sequence	4654	MYOD1	OMIM:618975
HP:0001989	Fetal akinesia sequence	4593	MUSK	ORPHA:994
HP:0001989	Fetal akinesia sequence	4593	MUSK	OMIM:208150
HP:0001989	Fetal akinesia sequence	5913	RAPSN	ORPHA:994
HP:0001989	Fetal akinesia sequence	5913	RAPSN	OMIM:618388
HP:0001989	Fetal akinesia sequence	6572	SLC18A3	ORPHA:994
HP:0001989	Fetal akinesia sequence	285489	DOK7	ORPHA:994
HP:0001989	Fetal akinesia sequence	285489	DOK7	OMIM:618389
HP:0001989	Fetal akinesia sequence	6261	RYR1	ORPHA:597
HP:0001989	Fetal akinesia sequence	55906	ZC4H2	OMIM:301041
HP:0001989	Fetal akinesia sequence	1798	DPAGT1	ORPHA:86309
HP:0001989	Fetal akinesia sequence	2629	GBA1	ORPHA:85212
HP:0001989	Fetal akinesia sequence	94005	PIGS	OMIM:618143
HP:0001989	Fetal akinesia sequence	8506	CNTNAP1	OMIM:616286
HP:0001989	Fetal akinesia sequence	10324	KLHL41	OMIM:615731
HP:0001989	Fetal akinesia sequence	10324	KLHL41	ORPHA:171439
HP:0001989	Fetal akinesia sequence	1272	CNTN1	OMIM:612540
HP:0001989	Fetal akinesia sequence	2733	GLE1	OMIM:611890
HP:0001989	Fetal akinesia sequence	84665	MYPN	ORPHA:171439
HP:0001989	Fetal akinesia sequence	58	ACTA1	ORPHA:171439
HP:0001989	Fetal akinesia sequence	7169	TPM2	ORPHA:171439
HP:0001989	Fetal akinesia sequence	390594	KBTBD13	ORPHA:171439
HP:0001989	Fetal akinesia sequence	4703	NEB	ORPHA:171439
HP:0001989	Fetal akinesia sequence	7170	TPM3	ORPHA:171439
HP:0001989	Fetal akinesia sequence	59341	TRPV4	OMIM:156530
HP:0001989	Fetal akinesia sequence	91754	NEK9	OMIM:617022
HP:0001989	Fetal akinesia sequence	3800	KIF5C	OMIM:615282
HP:0001989	Fetal akinesia sequence	163175	LGI4	OMIM:617468
HP:0001989	Fetal akinesia sequence	477	ATP1A2	OMIM:619602
HP:0001989	Fetal akinesia sequence	131377	KLHL40	OMIM:615348
HP:0001989	Fetal akinesia sequence	1146	CHRNG	OMIM:253290
HP:0001989	Fetal akinesia sequence	1144	CHRND	OMIM:253290
HP:0001989	Fetal akinesia sequence	1134	CHRNA1	OMIM:253290
HP:0001989	Fetal akinesia sequence	54551	MAGEL2	OMIM:615547
HP:0001989	Fetal akinesia sequence	26227	PHGDH	OMIM:256520
HP:0010621	Cutaneous syndactyly of toes	1717	DHCR7	OMIM:270400
HP:0010621	Cutaneous syndactyly of toes	4204	MECP2	OMIM:300260
HP:0010621	Cutaneous syndactyly of toes	54880	BCOR	OMIM:300166
HP:0010621	Cutaneous syndactyly of toes	6134	RPL10	OMIM:300998
HP:0010621	Cutaneous syndactyly of toes	8295	TRRAP	OMIM:618454
HP:0010621	Cutaneous syndactyly of toes	91179	SCARF2	OMIM:600920
HP:0010621	Cutaneous syndactyly of toes	23288	IQCE	OMIM:617642
HP:0010621	Cutaneous syndactyly of toes	5587	PRKD1	OMIM:617364
HP:0010621	Cutaneous syndactyly of toes	81607	NECTIN4	OMIM:613573
HP:0010621	Cutaneous syndactyly of toes	55784	MCTP2	ORPHA:1596
HP:0010621	Cutaneous syndactyly of toes	23261	CAMTA1	OMIM:614756
HP:0010621	Cutaneous syndactyly of toes	775	CACNA1C	OMIM:620029
HP:0010621	Cutaneous syndactyly of toes	8823	FGF16	OMIM:309630
HP:0010621	Cutaneous syndactyly of toes	64093	SMOC1	OMIM:206920
HP:0010621	Cutaneous syndactyly of toes	10522	DEAF1	OMIM:615828
HP:0010621	Cutaneous syndactyly of toes	8626	TP63	OMIM:129400
HP:0010621	Cutaneous syndactyly of toes	10079	ATP9A	OMIM:620242
HP:0010621	Cutaneous syndactyly of toes	2556	GABRA3	OMIM:301091
HP:0010621	Cutaneous syndactyly of toes	51776	MAP3K20	ORPHA:488232
HP:0010621	Cutaneous syndactyly of toes	374969	SVBP	OMIM:618569
HP:0010621	Cutaneous syndactyly of toes	1859	DYRK1A	ORPHA:268261
HP:0010621	Cutaneous syndactyly of toes	2697	GJA1	OMIM:257850
HP:0010621	Cutaneous syndactyly of toes	5818	NECTIN1	OMIM:225060
HP:0010621	Cutaneous syndactyly of toes	4626	MYH8	OMIM:158300
HP:0010621	Cutaneous syndactyly of toes	2254	FGF9	OMIM:612961
HP:0010621	Cutaneous syndactyly of toes	9241	NOG	OMIM:611377
HP:0010621	Cutaneous syndactyly of toes	79633	FAT4	OMIM:615546
HP:0010621	Cutaneous syndactyly of toes	1387	CREBBP	OMIM:618332
HP:0010621	Cutaneous syndactyly of toes	64116	SLC39A8	ORPHA:468699
HP:0010621	Cutaneous syndactyly of toes	2033	EP300	OMIM:618333
HP:0010621	Cutaneous syndactyly of toes	56916	SMARCAD1	OMIM:129200
HP:0001991	Aplasia/Hypoplasia of toe	242	ALOX12B	OMIM:242100
HP:0001991	Aplasia/Hypoplasia of toe	59344	ALOXE3	OMIM:242100
HP:0001991	Aplasia/Hypoplasia of toe	1280	COL2A1	OMIM:271700
HP:0001991	Aplasia/Hypoplasia of toe	1280	COL2A1	OMIM:609162
HP:0001991	Aplasia/Hypoplasia of toe	5573	PRKAR1A	ORPHA:950
HP:0001991	Aplasia/Hypoplasia of toe	5573	PRKAR1A	ORPHA:280651
HP:0001991	Aplasia/Hypoplasia of toe	5144	PDE4D	ORPHA:950
HP:0001991	Aplasia/Hypoplasia of toe	5144	PDE4D	ORPHA:280651
HP:0001991	Aplasia/Hypoplasia of toe	5144	PDE4D	ORPHA:439822
HP:0001991	Aplasia/Hypoplasia of toe	7840	ALMS1	ORPHA:64
HP:0001991	Aplasia/Hypoplasia of toe	4882	NPR2	OMIM:602875
HP:0001991	Aplasia/Hypoplasia of toe	145173	B3GLCT	OMIM:261540
HP:0001991	Aplasia/Hypoplasia of toe	145173	B3GLCT	ORPHA:709
HP:0001991	Aplasia/Hypoplasia of toe	5593	PRKG2	OMIM:619636
HP:0001991	Aplasia/Hypoplasia of toe	100151683	RNU4ATAC	ORPHA:353298
HP:0001991	Aplasia/Hypoplasia of toe	100151683	RNU4ATAC	OMIM:616651
HP:0001991	Aplasia/Hypoplasia of toe	6023	RMRP	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	6023	RMRP	OMIM:607095
HP:0001991	Aplasia/Hypoplasia of toe	55636	CHD7	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	3981	LIG4	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	5896	RAG1	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	5897	RAG2	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	64421	DCLRE1C	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	100	ADA	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	3575	IL7R	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	3561	IL2RG	ORPHA:39041
HP:0001991	Aplasia/Hypoplasia of toe	1788	DNMT3A	ORPHA:404443
HP:0001991	Aplasia/Hypoplasia of toe	6473	SHOX	OMIM:127300
HP:0001991	Aplasia/Hypoplasia of toe	55027	HEATR3	OMIM:620072
HP:0001991	Aplasia/Hypoplasia of toe	79718	TBL1XR1	OMIM:602342
HP:0001991	Aplasia/Hypoplasia of toe	79718	TBL1XR1	ORPHA:487825
HP:0001991	Aplasia/Hypoplasia of toe	4089	SMAD4	OMIM:139210
HP:0001991	Aplasia/Hypoplasia of toe	54928	BPNT2	OMIM:614078
HP:0001991	Aplasia/Hypoplasia of toe	23426	GRIP1	OMIM:617667
HP:0001991	Aplasia/Hypoplasia of toe	1836	SLC26A2	ORPHA:93307
HP:0001991	Aplasia/Hypoplasia of toe	7140	TNNT3	OMIM:618435
HP:0001991	Aplasia/Hypoplasia of toe	25782	RAB3GAP2	OMIM:212720
HP:0001991	Aplasia/Hypoplasia of toe	23384	SPECC1L	ORPHA:1519
HP:0001991	Aplasia/Hypoplasia of toe	4297	KMT2A	OMIM:605130
HP:0001991	Aplasia/Hypoplasia of toe	55650	PIGV	OMIM:239300
HP:0001991	Aplasia/Hypoplasia of toe	9759	HDAC4	OMIM:600430
HP:0001991	Aplasia/Hypoplasia of toe	427	ASAH1	ORPHA:333
HP:0001991	Aplasia/Hypoplasia of toe	2719	GPC3	ORPHA:373
HP:0001991	Aplasia/Hypoplasia of toe	3039	HBA1	ORPHA:98791
HP:0001991	Aplasia/Hypoplasia of toe	3040	HBA2	ORPHA:98791
HP:0001991	Aplasia/Hypoplasia of toe	84295	PHF6	OMIM:301900
HP:0001991	Aplasia/Hypoplasia of toe	84295	PHF6	ORPHA:127
HP:0001991	Aplasia/Hypoplasia of toe	23483	TGDS	OMIM:616145
HP:0001991	Aplasia/Hypoplasia of toe	55764	IFT122	OMIM:218330
HP:0001991	Aplasia/Hypoplasia of toe	50945	TBX22	ORPHA:921
HP:0001991	Aplasia/Hypoplasia of toe	5745	PTH1R	ORPHA:79106
HP:0001991	Aplasia/Hypoplasia of toe	1717	DHCR7	OMIM:270400
HP:0001991	Aplasia/Hypoplasia of toe	171023	ASXL1	OMIM:605039
HP:0001991	Aplasia/Hypoplasia of toe	9509	ADAMTS2	OMIM:225410
HP:0001991	Aplasia/Hypoplasia of toe	9742	IFT140	OMIM:266920
HP:0001991	Aplasia/Hypoplasia of toe	375056	MIA3	OMIM:619269
HP:0001991	Aplasia/Hypoplasia of toe	57178	ZMIZ1	OMIM:618659
HP:0001991	Aplasia/Hypoplasia of toe	4613	MYCN	OMIM:164280
HP:0001991	Aplasia/Hypoplasia of toe	2313	FLI1	ORPHA:2308
HP:0001991	Aplasia/Hypoplasia of toe	2778	GNAS	OMIM:103580
HP:0001991	Aplasia/Hypoplasia of toe	2690	GHR	ORPHA:633
HP:0001991	Aplasia/Hypoplasia of toe	2879	GPX4	OMIM:250220
HP:0001991	Aplasia/Hypoplasia of toe	64840	PORCN	OMIM:305600
HP:0001991	Aplasia/Hypoplasia of toe	7480	WNT10B	OMIM:225300
HP:0001991	Aplasia/Hypoplasia of toe	10262	SF3B4	OMIM:154400
HP:0001991	Aplasia/Hypoplasia of toe	7476	WNT7A	OMIM:228930
HP:0001991	Aplasia/Hypoplasia of toe	7476	WNT7A	ORPHA:2879
HP:0001991	Aplasia/Hypoplasia of toe	7476	WNT7A	OMIM:276820
HP:0001991	Aplasia/Hypoplasia of toe	54567	DLL4	OMIM:616589
HP:0001991	Aplasia/Hypoplasia of toe	64093	SMOC1	OMIM:206920
HP:0001991	Aplasia/Hypoplasia of toe	64093	SMOC1	ORPHA:1106
HP:0001991	Aplasia/Hypoplasia of toe	1749	DLX5	OMIM:183600
HP:0001991	Aplasia/Hypoplasia of toe	4038	LRP4	ORPHA:3258
HP:0001991	Aplasia/Hypoplasia of toe	324	APC	ORPHA:3258
HP:0001991	Aplasia/Hypoplasia of toe	2737	GLI3	ORPHA:93322
HP:0001991	Aplasia/Hypoplasia of toe	5281	PIGF	OMIM:619356
HP:0001991	Aplasia/Hypoplasia of toe	9241	NOG	ORPHA:140908
HP:0001991	Aplasia/Hypoplasia of toe	415	ARSL	ORPHA:79345
HP:0001991	Aplasia/Hypoplasia of toe	3756	KCNH1	OMIM:135500
HP:0001991	Aplasia/Hypoplasia of toe	3209	HOXA13	OMIM:176305
HP:0001991	Aplasia/Hypoplasia of toe	3209	HOXA13	OMIM:140000
HP:0001991	Aplasia/Hypoplasia of toe	8481	OFD1	OMIM:311200
HP:0001991	Aplasia/Hypoplasia of toe	113246	C12orf57	OMIM:218340
HP:0001991	Aplasia/Hypoplasia of toe	59341	TRPV4	OMIM:606835
HP:0001991	Aplasia/Hypoplasia of toe	2260	FGFR1	OMIM:101600
HP:0001991	Aplasia/Hypoplasia of toe	2263	FGFR2	OMIM:101600
HP:0001991	Aplasia/Hypoplasia of toe	2261	FGFR3	OMIM:602849
HP:0001991	Aplasia/Hypoplasia of toe	6662	SOX9	OMIM:114290
HP:0001991	Aplasia/Hypoplasia of toe	55697	VAC14	ORPHA:3472
HP:0001991	Aplasia/Hypoplasia of toe	3239	HOXD13	OMIM:186000
HP:0001991	Aplasia/Hypoplasia of toe	23394	ADNP	OMIM:615873
HP:0001991	Aplasia/Hypoplasia of toe	374969	SVBP	OMIM:618569
HP:0001991	Aplasia/Hypoplasia of toe	6926	TBX3	OMIM:181450
HP:0001991	Aplasia/Hypoplasia of toe	1327	COX4I1	OMIM:619060
HP:0001991	Aplasia/Hypoplasia of toe	8936	WASF1	OMIM:618707
HP:0001991	Aplasia/Hypoplasia of toe	727857	BHLHA9	ORPHA:157801
HP:0001991	Aplasia/Hypoplasia of toe	727857	BHLHA9	OMIM:609432
HP:0001991	Aplasia/Hypoplasia of toe	4750	NEK1	ORPHA:2751
HP:0001991	Aplasia/Hypoplasia of toe	51776	MAP3K20	ORPHA:488232
HP:0001991	Aplasia/Hypoplasia of toe	5744	PTHLH	ORPHA:93387
HP:0001991	Aplasia/Hypoplasia of toe	658	BMPR1B	OMIM:112600
HP:0001991	Aplasia/Hypoplasia of toe	658	BMPR1B	ORPHA:93388
HP:0001991	Aplasia/Hypoplasia of toe	650	BMP2	OMIM:112600
HP:0001991	Aplasia/Hypoplasia of toe	90	ACVR1	OMIM:135100
HP:0001991	Aplasia/Hypoplasia of toe	90	ACVR1	ORPHA:337
HP:0001991	Aplasia/Hypoplasia of toe	50515	CHST11	OMIM:618167
HP:0001991	Aplasia/Hypoplasia of toe	4256	MGP	OMIM:245150
HP:0001991	Aplasia/Hypoplasia of toe	22856	CHSY1	ORPHA:363417
HP:0001991	Aplasia/Hypoplasia of toe	7994	KAT6A	OMIM:616268
HP:0001991	Aplasia/Hypoplasia of toe	2697	GJA1	ORPHA:2710
HP:0001991	Aplasia/Hypoplasia of toe	10060	ABCC9	OMIM:239850
HP:0001991	Aplasia/Hypoplasia of toe	10060	ABCC9	ORPHA:1517
HP:0001991	Aplasia/Hypoplasia of toe	22827	PUF60	ORPHA:508488
HP:0001991	Aplasia/Hypoplasia of toe	10815	CPLX1	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	10815	CPLX1	OMIM:194190
HP:0001991	Aplasia/Hypoplasia of toe	54872	PIGG	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	7469	NELFA	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	1487	CTBP1	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	1487	CTBP1	OMIM:194190
HP:0001991	Aplasia/Hypoplasia of toe	3954	LETM1	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	3954	LETM1	OMIM:194190
HP:0001991	Aplasia/Hypoplasia of toe	7468	NSD2	ORPHA:280
HP:0001991	Aplasia/Hypoplasia of toe	7468	NSD2	OMIM:194190
HP:0001991	Aplasia/Hypoplasia of toe	9775	EIF4A3	OMIM:268305
HP:0001991	Aplasia/Hypoplasia of toe	2316	FLNA	OMIM:311300
HP:0001991	Aplasia/Hypoplasia of toe	2316	FLNA	OMIM:304120
HP:0001991	Aplasia/Hypoplasia of toe	2316	FLNA	ORPHA:90650
HP:0001991	Aplasia/Hypoplasia of toe	2316	FLNA	ORPHA:90652
HP:0001991	Aplasia/Hypoplasia of toe	57167	SALL4	ORPHA:959
HP:0001991	Aplasia/Hypoplasia of toe	53834	FGFRL1	OMIM:194190
HP:0001991	Aplasia/Hypoplasia of toe	3764	KCNJ8	ORPHA:1517
HP:0001991	Aplasia/Hypoplasia of toe	2239	GPC4	ORPHA:2662
HP:0001991	Aplasia/Hypoplasia of toe	3549	IHH	ORPHA:93388
HP:0001991	Aplasia/Hypoplasia of toe	4920	ROR2	OMIM:113000
HP:0001991	Aplasia/Hypoplasia of toe	54101	RIPK4	ORPHA:1234
HP:0001991	Aplasia/Hypoplasia of toe	6299	SALL1	OMIM:107480
HP:0001991	Aplasia/Hypoplasia of toe	6299	SALL1	ORPHA:857
HP:0001991	Aplasia/Hypoplasia of toe	51339	DACT1	ORPHA:857
HP:0001991	Aplasia/Hypoplasia of toe	285203	EOGT	OMIM:615297
HP:0001991	Aplasia/Hypoplasia of toe	50814	NSDHL	OMIM:308050
HP:0001991	Aplasia/Hypoplasia of toe	64327	LMBR1	OMIM:200500
HP:0001991	Aplasia/Hypoplasia of toe	8200	GDF5	OMIM:228900
HP:0001991	Aplasia/Hypoplasia of toe	3516	RBPJ	OMIM:614814
HP:0001991	Aplasia/Hypoplasia of toe	3516	RBPJ	ORPHA:974
HP:0001991	Aplasia/Hypoplasia of toe	4851	NOTCH1	ORPHA:974
HP:0001991	Aplasia/Hypoplasia of toe	57514	ARHGAP31	ORPHA:974
HP:0001991	Aplasia/Hypoplasia of toe	57572	DOCK6	ORPHA:974
HP:0001991	Aplasia/Hypoplasia of toe	4853	NOTCH2	ORPHA:955
HP:0001991	Aplasia/Hypoplasia of toe	2033	EP300	OMIM:613684
HP:0001991	Aplasia/Hypoplasia of toe	1859	DYRK1A	ORPHA:268261
HP:0001991	Aplasia/Hypoplasia of toe	9896	FIG4	OMIM:216340
HP:0001991	Aplasia/Hypoplasia of toe	4000	LMNA	ORPHA:2229
HP:0001991	Aplasia/Hypoplasia of toe	6597	SMARCA4	OMIM:614609
HP:0001991	Aplasia/Hypoplasia of toe	3782	KCNN3	OMIM:618658
HP:0001991	Aplasia/Hypoplasia of toe	57492	ARID1B	OMIM:135900
HP:0001992	Organic aciduria	5095	PCCA	ORPHA:35
HP:0001992	Organic aciduria	5096	PCCB	ORPHA:35
HP:0001992	Organic aciduria	283209	PGM2L1	OMIM:620191
HP:0001992	Organic aciduria	56922	MCCC1	ORPHA:6
HP:0001992	Organic aciduria	64087	MCCC2	ORPHA:6
HP:0001992	Organic aciduria	64087	MCCC2	OMIM:210210
HP:0001992	Organic aciduria	5442	POLRMT	OMIM:619743
HP:0001992	Organic aciduria	291	SLC25A4	OMIM:617184
HP:0001992	Organic aciduria	51660	MPC1	OMIM:614741
HP:0001992	Organic aciduria	80308	FLAD1	OMIM:255100
HP:0001992	Organic aciduria	133686	NADK2	ORPHA:431361
HP:0001992	Organic aciduria	3141	HLCS	OMIM:253270
HP:0001992	Organic aciduria	3141	HLCS	ORPHA:79242
HP:0001992	Organic aciduria	686	BTD	OMIM:253260
HP:0001992	Organic aciduria	686	BTD	ORPHA:79241
HP:0001992	Organic aciduria	60386	SLC25A19	ORPHA:99742
HP:0001992	Organic aciduria	79581	SLC52A2	OMIM:614707
HP:0001992	Organic aciduria	2628	GATM	OMIM:612718
HP:0001992	Organic aciduria	79783	SUGCT	ORPHA:35706
HP:0001992	Organic aciduria	79783	SUGCT	OMIM:231690
HP:0001992	Organic aciduria	2639	GCDH	ORPHA:25
HP:0001992	Organic aciduria	2639	GCDH	OMIM:231670
HP:0001992	Organic aciduria	728294	D2HGDH	OMIM:600721
HP:0001992	Organic aciduria	3155	HMGCL	OMIM:246450
HP:0001992	Organic aciduria	2108	ETFA	OMIM:231680
HP:0001992	Organic aciduria	2109	ETFB	OMIM:231680
HP:0001992	Organic aciduria	2110	ETFDH	OMIM:231680
HP:0001992	Organic aciduria	10861	SLC26A1	OMIM:167030
HP:0001992	Organic aciduria	189	AGXT	OMIM:259900
HP:0001992	Organic aciduria	189	AGXT	ORPHA:93598
HP:0001992	Organic aciduria	9380	GRHPR	OMIM:260000
HP:0001992	Organic aciduria	9380	GRHPR	ORPHA:93599
HP:0001992	Organic aciduria	5189	PEX1	OMIM:601539
HP:0001992	Organic aciduria	112817	HOGA1	OMIM:613616
HP:0001992	Organic aciduria	112817	HOGA1	ORPHA:93600
HP:0001992	Organic aciduria	6898	TAT	OMIM:276600
HP:0001992	Organic aciduria	7019	TFAM	OMIM:617156
HP:0001992	Organic aciduria	37	ACADVL	OMIM:201475
HP:0001992	Organic aciduria	3033	HADH	OMIM:231530
HP:0001992	Organic aciduria	3033	HADH	ORPHA:71212
HP:0001992	Organic aciduria	1374	CPT1A	OMIM:255120
HP:0001992	Organic aciduria	55065	SLC52A1	OMIM:615026
HP:0001992	Organic aciduria	788	SLC25A20	OMIM:212138
HP:0001992	Organic aciduria	788	SLC25A20	ORPHA:159
HP:0001992	Organic aciduria	28976	ACAD9	OMIM:611126
HP:0001992	Organic aciduria	28976	ACAD9	ORPHA:99901
HP:0001992	Organic aciduria	5195	PEX14	OMIM:614887
HP:0001992	Organic aciduria	27034	ACAD8	ORPHA:79159
HP:0001992	Organic aciduria	6584	SLC22A5	OMIM:212140
HP:0001992	Organic aciduria	23474	ETHE1	ORPHA:51188
HP:0001992	Organic aciduria	23474	ETHE1	OMIM:602473
HP:0001992	Organic aciduria	3329	HSPD1	OMIM:612233
HP:0001992	Organic aciduria	5428	POLG	OMIM:203700
HP:0001992	Organic aciduria	4724	NDUFS4	OMIM:252010
HP:0001992	Organic aciduria	51241	COX16	OMIM:619355
HP:0001992	Organic aciduria	55687	TRMU	OMIM:613070
HP:0001992	Organic aciduria	1376	CPT2	OMIM:608836
HP:0001992	Organic aciduria	34	ACADM	OMIM:201450
HP:0001992	Organic aciduria	23095	KIF1B	OMIM:256700
HP:0001992	Organic aciduria	6571	SLC18A2	OMIM:618049
HP:0001992	Organic aciduria	5979	RET	OMIM:171400
HP:0001992	Organic aciduria	197322	ACSF3	OMIM:614265
HP:0001992	Organic aciduria	197322	ACSF3	ORPHA:289504
HP:0001992	Organic aciduria	119559	SFXN4	OMIM:615578
HP:0001992	Organic aciduria	25974	MMACHC	ORPHA:79282
HP:0001992	Organic aciduria	25974	MMACHC	OMIM:277400
HP:0001992	Organic aciduria	3054	HCFC1	OMIM:309541
HP:0001992	Organic aciduria	6948	TCN2	OMIM:275350
HP:0001992	Organic aciduria	6948	TCN2	ORPHA:859
HP:0001992	Organic aciduria	55788	LMBRD1	ORPHA:79284
HP:0001992	Organic aciduria	55788	LMBRD1	OMIM:277380
HP:0001992	Organic aciduria	27249	MMADHC	OMIM:277410
HP:0001992	Organic aciduria	4594	MMUT	OMIM:251000
HP:0001992	Organic aciduria	84693	MCEE	OMIM:251120
HP:0001992	Organic aciduria	4552	MTRR	OMIM:236270
HP:0001992	Organic aciduria	8802	SUCLG1	OMIM:245400
HP:0001992	Organic aciduria	8802	SUCLG1	ORPHA:17
HP:0001992	Organic aciduria	8803	SUCLA2	OMIM:612073
HP:0001992	Organic aciduria	8803	SUCLA2	ORPHA:1933
HP:0001992	Organic aciduria	51293	CD320	OMIM:613646
HP:0001992	Organic aciduria	5826	ABCD4	OMIM:614857
HP:0001992	Organic aciduria	4548	MTR	OMIM:250940
HP:0001992	Organic aciduria	326625	MMAB	OMIM:251110
HP:0001992	Organic aciduria	5052	PRDX1	OMIM:277400
HP:0001992	Organic aciduria	5498	PPOX	OMIM:176200
HP:0001992	Organic aciduria	5498	PPOX	ORPHA:79473
HP:0001992	Organic aciduria	3077	HFE	OMIM:176200
HP:0001992	Organic aciduria	1371	CPOX	ORPHA:79273
HP:0001992	Organic aciduria	1371	CPOX	OMIM:121300
HP:0001992	Organic aciduria	1371	CPOX	OMIM:618892
HP:0001992	Organic aciduria	210	ALAD	ORPHA:100924
HP:0001992	Organic aciduria	3145	HMBS	ORPHA:79276
HP:0001992	Organic aciduria	7390	UROS	ORPHA:79277
HP:0001992	Organic aciduria	2623	GATA1	ORPHA:79277
HP:0001992	Organic aciduria	131669	UROC1	OMIM:276880
HP:0001992	Organic aciduria	131669	UROC1	ORPHA:210128
HP:0001992	Organic aciduria	3418	IDH2	OMIM:613657
HP:0001992	Organic aciduria	3417	IDH1	ORPHA:99646
HP:0001992	Organic aciduria	54914	FOCAD	OMIM:619991
HP:0001992	Organic aciduria	4716	NDUFB10	OMIM:619003
HP:0001992	Organic aciduria	7915	ALDH5A1	OMIM:271980
HP:0001992	Organic aciduria	4598	MVK	OMIM:260920
HP:0001992	Organic aciduria	4598	MVK	OMIM:610377
HP:0001992	Organic aciduria	2271	FH	OMIM:606812
HP:0001992	Organic aciduria	6341	SCO1	OMIM:619048
HP:0001992	Organic aciduria	6576	SLC25A1	OMIM:615182
HP:0001992	Organic aciduria	64849	SLC13A3	OMIM:618384
HP:0001992	Organic aciduria	763	CA5A	OMIM:615751
HP:0001992	Organic aciduria	23417	MLYCD	OMIM:248360
HP:0001992	Organic aciduria	36	ACADSB	OMIM:610006
HP:0001992	Organic aciduria	3081	HGD	OMIM:203500
HP:0001992	Organic aciduria	3242	HPD	OMIM:140350
HP:0001992	Organic aciduria	5053	PAH	OMIM:261600
HP:0001992	Organic aciduria	55526	DHTKD1	OMIM:204750
HP:0001992	Organic aciduria	166785	MMAA	OMIM:251100
HP:0001992	Organic aciduria	10841	FTCD	OMIM:229100
HP:0001992	Organic aciduria	79944	L2HGDH	OMIM:236792
HP:0001992	Organic aciduria	4329	ALDH6A1	OMIM:614105
HP:0001992	Organic aciduria	5019	OXCT1	OMIM:245050
HP:0001992	Organic aciduria	35	ACADS	ORPHA:26792
HP:0001992	Organic aciduria	27247	NFU1	OMIM:605711
HP:0001992	Organic aciduria	3954	LETM1	OMIM:620089
HP:0001993	Ketoacidosis	8462	KLF11	ORPHA:552
HP:0001993	Ketoacidosis	2645	GCK	ORPHA:552
HP:0001993	Ketoacidosis	26060	APPL1	ORPHA:552
HP:0001993	Ketoacidosis	640	BLK	ORPHA:552
HP:0001993	Ketoacidosis	1056	CEL	ORPHA:552
HP:0001993	Ketoacidosis	4760	NEUROD1	ORPHA:552
HP:0001993	Ketoacidosis	3651	PDX1	ORPHA:552
HP:0001993	Ketoacidosis	6833	ABCC8	ORPHA:552
HP:0001993	Ketoacidosis	6833	ABCC8	ORPHA:99886
HP:0001993	Ketoacidosis	3630	INS	ORPHA:552
HP:0001993	Ketoacidosis	3630	INS	OMIM:618858
HP:0001993	Ketoacidosis	3630	INS	OMIM:613370
HP:0001993	Ketoacidosis	3643	INSR	OMIM:262190
HP:0001993	Ketoacidosis	3643	INSR	ORPHA:769
HP:0001993	Ketoacidosis	63924	CIDEC	OMIM:615238
HP:0001993	Ketoacidosis	1188	CLCNKB	ORPHA:358
HP:0001993	Ketoacidosis	6559	SLC12A3	ORPHA:358
HP:0001993	Ketoacidosis	346171	ZFP57	ORPHA:99886
HP:0001993	Ketoacidosis	57061	HYMAI	ORPHA:99886
HP:0001993	Ketoacidosis	5325	PLAGL1	ORPHA:99886
HP:0001993	Ketoacidosis	79783	SUGCT	ORPHA:35706
HP:0001993	Ketoacidosis	3712	IVD	OMIM:243500
HP:0001993	Ketoacidosis	197322	ACSF3	ORPHA:289504
HP:0001993	Ketoacidosis	197322	ACSF3	OMIM:614265
HP:0001993	Ketoacidosis	1738	DLD	OMIM:246900
HP:0001993	Ketoacidosis	26191	PTPN22	OMIM:222100
HP:0001993	Ketoacidosis	3710	ITPR3	OMIM:222100
HP:0001993	Ketoacidosis	3569	IL6	OMIM:222100
HP:0001993	Ketoacidosis	6927	HNF1A	OMIM:222100
HP:0001993	Ketoacidosis	6566	SLC16A1	OMIM:616095
HP:0001993	Ketoacidosis	513	ATP5F1D	OMIM:618120
HP:0001993	Ketoacidosis	11222	MRPL3	OMIM:614582
HP:0001993	Ketoacidosis	763	CA5A	OMIM:615751
HP:0001993	Ketoacidosis	5078	PAX4	OMIM:612227
HP:0001993	Ketoacidosis	3767	KCNJ11	OMIM:618856
HP:0001993	Ketoacidosis	64087	MCCC2	OMIM:210210
HP:0001993	Ketoacidosis	2710	GK	OMIM:307030
HP:0001993	Ketoacidosis	9451	EIF2AK3	ORPHA:1667
HP:0001993	Ketoacidosis	38	ACAT1	OMIM:203750
HP:0001993	Ketoacidosis	5019	OXCT1	OMIM:245050
HP:0001993	Ketoacidosis	1537	CYC1	OMIM:615453
HP:0001993	Ketoacidosis	6473	SHOX	ORPHA:314795
HP:0001993	Ketoacidosis	686	BTD	OMIM:253260
HP:0001993	Ketoacidosis	686	BTD	ORPHA:79241
HP:0001993	Ketoacidosis	3172	HNF4A	ORPHA:263455
HP:0001993	Ketoacidosis	4594	MMUT	OMIM:251000
HP:0001994	Renal Fanconi syndrome	1497	CTNS	OMIM:219800
HP:0001994	Renal Fanconi syndrome	1497	CTNS	ORPHA:411634
HP:0001994	Renal Fanconi syndrome	1497	CTNS	ORPHA:411629
HP:0001994	Renal Fanconi syndrome	3172	HNF4A	ORPHA:263455
HP:0001994	Renal Fanconi syndrome	5442	POLRMT	OMIM:619743
HP:0001994	Renal Fanconi syndrome	4574	MT-TS1	OMIM:220110
HP:0001994	Renal Fanconi syndrome	4570	MT-TN	OMIM:220110
HP:0001994	Renal Fanconi syndrome	6834	SURF1	OMIM:220110
HP:0001994	Renal Fanconi syndrome	50484	RRM2B	OMIM:268315
HP:0001994	Renal Fanconi syndrome	84334	COA8	ORPHA:436271
HP:0001994	Renal Fanconi syndrome	2184	FAH	OMIM:276700
HP:0001994	Renal Fanconi syndrome	6928	HNF1B	ORPHA:93111
HP:0001994	Renal Fanconi syndrome	1188	CLCNKB	ORPHA:358
HP:0001994	Renal Fanconi syndrome	6559	SLC12A3	ORPHA:358
HP:0001994	Renal Fanconi syndrome	617	BCS1L	ORPHA:53693
HP:0001994	Renal Fanconi syndrome	4952	OCRL	OMIM:309000
HP:0001994	Renal Fanconi syndrome	5277	PIGA	ORPHA:447
HP:0001995	Hyperchloremic acidosis	8671	SLC4A4	OMIM:604278
HP:0001995	Hyperchloremic acidosis	65266	WNK4	OMIM:614491
HP:0001995	Hyperchloremic acidosis	65125	WNK1	OMIM:614492
HP:0001995	Hyperchloremic acidosis	26249	KLHL3	OMIM:614495
HP:0001995	Hyperchloremic acidosis	6521	SLC4A1	OMIM:611590
HP:0001995	Hyperchloremic acidosis	8452	CUL3	OMIM:614496
HP:0001995	Hyperchloremic acidosis	50674	NEUROG3	OMIM:610370
HP:0001995	Hyperchloremic acidosis	50674	NEUROG3	ORPHA:83620
HP:0001995	Hyperchloremic acidosis	137682	NDUFAF6	OMIM:618913
HP:0001995	Hyperchloremic acidosis	137682	NDUFAF6	ORPHA:3337
HP:0001995	Hyperchloremic acidosis	2592	GALT	OMIM:230400
HP:0001995	Hyperchloremic acidosis	1497	CTNS	ORPHA:411629
HP:0001995	Hyperchloremic acidosis	1962	EHHADH	ORPHA:3337
HP:0001995	Hyperchloremic acidosis	2628	GATM	ORPHA:3337
HP:0001995	Hyperchloremic acidosis	6569	SLC34A1	ORPHA:3337
HP:0001996	Chronic metabolic acidosis	2937	GSS	OMIM:266130
HP:0001998	Neonatal hypoglycemia	3767	KCNJ11	ORPHA:552
HP:0001998	Neonatal hypoglycemia	3767	KCNJ11	ORPHA:79644
HP:0001998	Neonatal hypoglycemia	8462	KLF11	ORPHA:552
HP:0001998	Neonatal hypoglycemia	2645	GCK	ORPHA:552
HP:0001998	Neonatal hypoglycemia	26060	APPL1	ORPHA:552
HP:0001998	Neonatal hypoglycemia	640	BLK	ORPHA:552
HP:0001998	Neonatal hypoglycemia	1056	CEL	ORPHA:552
HP:0001998	Neonatal hypoglycemia	4760	NEUROD1	ORPHA:552
HP:0001998	Neonatal hypoglycemia	3651	PDX1	ORPHA:552
HP:0001998	Neonatal hypoglycemia	6833	ABCC8	ORPHA:552
HP:0001998	Neonatal hypoglycemia	5078	PAX4	ORPHA:552
HP:0001998	Neonatal hypoglycemia	3172	HNF4A	ORPHA:552
HP:0001998	Neonatal hypoglycemia	3172	HNF4A	ORPHA:263455
HP:0001998	Neonatal hypoglycemia	6927	HNF1A	ORPHA:552
HP:0001998	Neonatal hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0001998	Neonatal hypoglycemia	3630	INS	ORPHA:552
HP:0001998	Neonatal hypoglycemia	9095	TBX19	ORPHA:199296
HP:0001998	Neonatal hypoglycemia	8925	HERC1	ORPHA:457359
HP:0001998	Neonatal hypoglycemia	2998	GYS2	OMIM:240600
HP:0001998	Neonatal hypoglycemia	84340	GFM2	ORPHA:565624
HP:0001998	Neonatal hypoglycemia	51422	PRKAG2	OMIM:261740
HP:0001998	Neonatal hypoglycemia	64324	NSD1	OMIM:117550
HP:0001998	Neonatal hypoglycemia	64324	NSD1	ORPHA:821
HP:0001998	Neonatal hypoglycemia	100131801	PET100	OMIM:619055
HP:0001998	Neonatal hypoglycemia	1621	DBH	OMIM:223360
HP:0001998	Neonatal hypoglycemia	1028	CDKN1C	OMIM:130650
HP:0001998	Neonatal hypoglycemia	10984	KCNQ1OT1	OMIM:130650
HP:0001998	Neonatal hypoglycemia	3481	IGF2	OMIM:130650
HP:0001998	Neonatal hypoglycemia	3481	IGF2	ORPHA:231140
HP:0001998	Neonatal hypoglycemia	3784	KCNQ1	OMIM:130650
HP:0001998	Neonatal hypoglycemia	8565	YARS1	OMIM:619418
HP:0001998	Neonatal hypoglycemia	131118	DNAJC19	ORPHA:66634
HP:0001998	Neonatal hypoglycemia	1583	CYP11A1	ORPHA:168558
HP:0001998	Neonatal hypoglycemia	1583	CYP11A1	ORPHA:289548
HP:0001998	Neonatal hypoglycemia	788	SLC25A20	OMIM:212138
HP:0001998	Neonatal hypoglycemia	208	AKT2	ORPHA:293964
HP:0001998	Neonatal hypoglycemia	208	AKT2	OMIM:240900
HP:0001998	Neonatal hypoglycemia	81570	CLPB	ORPHA:445038
HP:0001998	Neonatal hypoglycemia	81570	CLPB	OMIM:616271
HP:0001998	Neonatal hypoglycemia	2203	FBP1	ORPHA:348
HP:0001998	Neonatal hypoglycemia	29072	SETD2	ORPHA:821
HP:0001998	Neonatal hypoglycemia	10297	APC2	ORPHA:821
HP:0001998	Neonatal hypoglycemia	283120	H19	ORPHA:231140
HP:0001998	Neonatal hypoglycemia	10943	MSL3	OMIM:301032
HP:0001998	Neonatal hypoglycemia	8567	MADD	OMIM:619004
HP:0001998	Neonatal hypoglycemia	5626	PROP1	OMIM:262600
HP:0001998	Neonatal hypoglycemia	7403	KDM6A	OMIM:300867
HP:0001998	Neonatal hypoglycemia	1352	COX10	OMIM:619046
HP:0001998	Neonatal hypoglycemia	10682	EBP	ORPHA:35173
HP:0001998	Neonatal hypoglycemia	2475	MTOR	ORPHA:457485
HP:0001998	Neonatal hypoglycemia	23152	CIC	OMIM:617600
HP:0001998	Neonatal hypoglycemia	10352	WARS2	ORPHA:572798
HP:0001998	Neonatal hypoglycemia	27429	HTRA2	OMIM:617248
HP:0001998	Neonatal hypoglycemia	5015	OTX2	OMIM:613986
HP:0001998	Neonatal hypoglycemia	3033	HADH	ORPHA:71212
HP:0001998	Neonatal hypoglycemia	3284	HSD3B2	ORPHA:90791
HP:0004400	Abnormality of the pylorus	23476	BRD4	ORPHA:199
HP:0004400	Abnormality of the pylorus	9126	SMC3	ORPHA:199
HP:0004400	Abnormality of the pylorus	8243	SMC1A	ORPHA:199
HP:0004400	Abnormality of the pylorus	25836	NIPBL	ORPHA:199
HP:0004400	Abnormality of the pylorus	25836	NIPBL	OMIM:122470
HP:0004400	Abnormality of the pylorus	55869	HDAC8	ORPHA:199
HP:0004400	Abnormality of the pylorus	5885	RAD21	ORPHA:199
HP:0004400	Abnormality of the pylorus	375	ARF1	ORPHA:98892
HP:0004400	Abnormality of the pylorus	4131	MAP1B	ORPHA:98892
HP:0004400	Abnormality of the pylorus	2316	FLNA	ORPHA:98892
HP:0004400	Abnormality of the pylorus	2316	FLNA	OMIM:300048
HP:0004400	Abnormality of the pylorus	23327	NEDD4L	ORPHA:98892
HP:0004400	Abnormality of the pylorus	160418	TMTC3	ORPHA:98892
HP:0004400	Abnormality of the pylorus	10564	ARFGEF2	ORPHA:98892
HP:0004400	Abnormality of the pylorus	55780	ERMARD	ORPHA:98892
HP:0004400	Abnormality of the pylorus	8260	NAA10	OMIM:309800
HP:0004400	Abnormality of the pylorus	54880	BCOR	OMIM:309800
HP:0004400	Abnormality of the pylorus	1859	DYRK1A	ORPHA:268261
HP:0004400	Abnormality of the pylorus	91754	NEK9	OMIM:614262
HP:0004400	Abnormality of the pylorus	8425	LTBP4	OMIM:613177
HP:0004400	Abnormality of the pylorus	9508	ADAMTS3	ORPHA:2136
HP:0004400	Abnormality of the pylorus	147372	CCBE1	ORPHA:2136
HP:0004400	Abnormality of the pylorus	79633	FAT4	ORPHA:2136
HP:0004400	Abnormality of the pylorus	6885	MAP3K7	OMIM:617137
HP:0004400	Abnormality of the pylorus	4744	NEFH	OMIM:616924
HP:0004400	Abnormality of the pylorus	9759	HDAC4	ORPHA:1001
HP:0004400	Abnormality of the pylorus	5590	PRKCZ	ORPHA:1606
HP:0004400	Abnormality of the pylorus	2563	GABRD	ORPHA:1606
HP:0004400	Abnormality of the pylorus	23013	SPEN	ORPHA:1606
HP:0004400	Abnormality of the pylorus	8510	MMP23B	ORPHA:1606
HP:0004400	Abnormality of the pylorus	7798	LUZP1	ORPHA:1606
HP:0004400	Abnormality of the pylorus	6497	SKI	ORPHA:1606
HP:0004400	Abnormality of the pylorus	10630	PDPN	ORPHA:1606
HP:0004400	Abnormality of the pylorus	3339	HSPG2	ORPHA:1606
HP:0004400	Abnormality of the pylorus	10277	UBE4B	ORPHA:1606
HP:0004400	Abnormality of the pylorus	8514	KCNAB2	ORPHA:1606
HP:0004400	Abnormality of the pylorus	473	RERE	ORPHA:1606
HP:0004400	Abnormality of the pylorus	63976	PRDM16	ORPHA:1606
HP:0004400	Abnormality of the pylorus	54897	CASZ1	ORPHA:1606
HP:0004400	Abnormality of the pylorus	81031	SLC2A10	ORPHA:3342
HP:0004400	Abnormality of the pylorus	4534	MTM1	OMIM:310400
HP:0004400	Abnormality of the pylorus	6928	HNF1B	ORPHA:93111
HP:0004400	Abnormality of the pylorus	9839	ZEB2	OMIM:235730
HP:0004400	Abnormality of the pylorus	9839	ZEB2	ORPHA:261537
HP:0004400	Abnormality of the pylorus	9839	ZEB2	ORPHA:261552
HP:0004400	Abnormality of the pylorus	274	BIN1	ORPHA:169189
HP:0004400	Abnormality of the pylorus	64419	MTMR14	ORPHA:169189
HP:0004400	Abnormality of the pylorus	4618	MYF6	ORPHA:169189
HP:0004400	Abnormality of the pylorus	1785	DNM2	ORPHA:169189
HP:0004400	Abnormality of the pylorus	6261	RYR1	ORPHA:169189
HP:0004400	Abnormality of the pylorus	80781	COL18A1	OMIM:267750
HP:0004400	Abnormality of the pylorus	80781	COL18A1	ORPHA:1571
HP:0004400	Abnormality of the pylorus	388015	RTL1	ORPHA:96184
HP:0004400	Abnormality of the pylorus	8788	DLK1	ORPHA:96184
HP:0004400	Abnormality of the pylorus	55384	MEG3	ORPHA:96184
HP:0004400	Abnormality of the pylorus	5009	OTC	ORPHA:664
HP:0004400	Abnormality of the pylorus	374879	ZNF699	OMIM:619488
HP:0004400	Abnormality of the pylorus	613	BCR	ORPHA:261330
HP:0004400	Abnormality of the pylorus	1399	CRKL	ORPHA:261330
HP:0004400	Abnormality of the pylorus	5594	MAPK1	ORPHA:261330
HP:0004400	Abnormality of the pylorus	1723	DHODH	OMIM:263750
HP:0004400	Abnormality of the pylorus	5831	PYCR1	OMIM:614438
HP:0004400	Abnormality of the pylorus	1717	DHCR7	ORPHA:818
HP:0004400	Abnormality of the pylorus	1717	DHCR7	OMIM:270400
HP:0004400	Abnormality of the pylorus	9968	MED12	OMIM:305450
HP:0004400	Abnormality of the pylorus	9968	MED12	ORPHA:93932
HP:0004400	Abnormality of the pylorus	1536	CYBB	ORPHA:379
HP:0004400	Abnormality of the pylorus	4688	NCF2	ORPHA:379
HP:0004400	Abnormality of the pylorus	1535	CYBA	ORPHA:379
HP:0004400	Abnormality of the pylorus	4689	NCF4	ORPHA:379
HP:0004400	Abnormality of the pylorus	653361	NCF1	ORPHA:379
HP:0004400	Abnormality of the pylorus	79415	CYBC1	ORPHA:379
HP:0004400	Abnormality of the pylorus	6926	TBX3	ORPHA:3138
HP:0004400	Abnormality of the pylorus	6926	TBX3	OMIM:181450
HP:0004400	Abnormality of the pylorus	4868	NPHS1	OMIM:256300
HP:0004400	Abnormality of the pylorus	63895	PIEZO2	OMIM:248700
HP:0004400	Abnormality of the pylorus	63895	PIEZO2	ORPHA:2461
HP:0004400	Abnormality of the pylorus	4784	NFIX	OMIM:602535
HP:0004400	Abnormality of the pylorus	5528	PPP2R5D	ORPHA:457279
HP:0004400	Abnormality of the pylorus	5528	PPP2R5D	OMIM:616355
HP:0004400	Abnormality of the pylorus	4791	NFKB2	OMIM:615577
HP:0004400	Abnormality of the pylorus	4052	LTBP1	ORPHA:90349
HP:0004400	Abnormality of the pylorus	30008	EFEMP2	ORPHA:90349
HP:0004400	Abnormality of the pylorus	10516	FBLN5	ORPHA:90349
HP:0004400	Abnormality of the pylorus	284058	KANSL1	OMIM:610443
HP:0004400	Abnormality of the pylorus	9896	FIG4	OMIM:216340
HP:0004400	Abnormality of the pylorus	9896	FIG4	ORPHA:3472
HP:0004400	Abnormality of the pylorus	7020	TFAP2A	OMIM:113620
HP:0004400	Abnormality of the pylorus	3914	LAMB3	OMIM:226700
HP:0004400	Abnormality of the pylorus	3909	LAMA3	OMIM:226700
HP:0004400	Abnormality of the pylorus	3918	LAMC2	OMIM:226700
HP:0004400	Abnormality of the pylorus	55697	VAC14	ORPHA:3472
HP:0004400	Abnormality of the pylorus	404672	GTF2H5	OMIM:616395
HP:0004400	Abnormality of the pylorus	25970	SH2B1	ORPHA:261197
HP:0004400	Abnormality of the pylorus	127833	SYT2	OMIM:619461
HP:0004400	Abnormality of the pylorus	529	ATP6V1E1	OMIM:617402
HP:0004400	Abnormality of the pylorus	55012	PPP2R3C	OMIM:618419
HP:0004400	Abnormality of the pylorus	5062	PAK2	OMIM:618458
HP:0004400	Abnormality of the pylorus	5062	PAK2	ORPHA:1571
HP:0004400	Abnormality of the pylorus	284119	CAVIN1	OMIM:613327
HP:0004400	Abnormality of the pylorus	55670	PEX26	ORPHA:912
HP:0004400	Abnormality of the pylorus	5824	PEX19	ORPHA:912
HP:0004400	Abnormality of the pylorus	5828	PEX2	ORPHA:912
HP:0004400	Abnormality of the pylorus	8504	PEX3	ORPHA:912
HP:0004400	Abnormality of the pylorus	8799	PEX11B	ORPHA:912
HP:0004400	Abnormality of the pylorus	9409	PEX16	ORPHA:912
HP:0004400	Abnormality of the pylorus	5190	PEX6	ORPHA:912
HP:0004400	Abnormality of the pylorus	5830	PEX5	ORPHA:912
HP:0004400	Abnormality of the pylorus	5189	PEX1	ORPHA:912
HP:0004400	Abnormality of the pylorus	5193	PEX12	ORPHA:912
HP:0004400	Abnormality of the pylorus	5194	PEX13	ORPHA:912
HP:0004400	Abnormality of the pylorus	5195	PEX14	ORPHA:912
HP:0004400	Abnormality of the pylorus	5192	PEX10	ORPHA:912
HP:0004400	Abnormality of the pylorus	3265	HRAS	OMIM:218040
HP:0004400	Abnormality of the pylorus	871	SERPINH1	OMIM:613848
HP:0004400	Abnormality of the pylorus	2313	FLI1	ORPHA:2308
HP:0004400	Abnormality of the pylorus	2263	FGFR2	OMIM:101200
HP:0004400	Abnormality of the pylorus	3655	ITGA6	ORPHA:79403
HP:0004400	Abnormality of the pylorus	3655	ITGA6	OMIM:619817
HP:0004400	Abnormality of the pylorus	3691	ITGB4	ORPHA:79403
HP:0004400	Abnormality of the pylorus	3691	ITGB4	OMIM:226730
HP:0004400	Abnormality of the pylorus	3691	ITGB4	ORPHA:158684
HP:0004400	Abnormality of the pylorus	5339	PLEC	OMIM:612138
HP:0004400	Abnormality of the pylorus	5339	PLEC	OMIM:226730
HP:0004400	Abnormality of the pylorus	5339	PLEC	ORPHA:158684
HP:0004404	Abnormal nipple morphology	23476	BRD4	ORPHA:199
HP:0004404	Abnormal nipple morphology	9126	SMC3	ORPHA:199
HP:0004404	Abnormal nipple morphology	8243	SMC1A	ORPHA:199
HP:0004404	Abnormal nipple morphology	25836	NIPBL	ORPHA:199
HP:0004404	Abnormal nipple morphology	25836	NIPBL	OMIM:122470
HP:0004404	Abnormal nipple morphology	55869	HDAC8	ORPHA:199
HP:0004404	Abnormal nipple morphology	5885	RAD21	ORPHA:199
HP:0004404	Abnormal nipple morphology	64840	PORCN	OMIM:305600
HP:0004404	Abnormal nipple morphology	57003	CCDC47	OMIM:618268
HP:0004404	Abnormal nipple morphology	23135	KDM6B	OMIM:618505
HP:0004404	Abnormal nipple morphology	8239	USP9X	ORPHA:480880
HP:0004404	Abnormal nipple morphology	5828	PEX2	OMIM:614866
HP:0004404	Abnormal nipple morphology	197131	UBR1	OMIM:243800
HP:0004404	Abnormal nipple morphology	203068	TUBB	OMIM:156610
HP:0004404	Abnormal nipple morphology	1146	CHRNG	OMIM:265000
HP:0004404	Abnormal nipple morphology	56992	KIF15	ORPHA:261323
HP:0004404	Abnormal nipple morphology	10020	GNE	OMIM:269921
HP:0004404	Abnormal nipple morphology	84168	ANTXR1	OMIM:230740
HP:0004404	Abnormal nipple morphology	7476	WNT7A	OMIM:276820
HP:0004404	Abnormal nipple morphology	3858	KRT10	OMIM:609165
HP:0004404	Abnormal nipple morphology	1954	MEGF8	OMIM:614976
HP:0004404	Abnormal nipple morphology	79633	FAT4	OMIM:615546
HP:0004404	Abnormal nipple morphology	8517	IKBKG	OMIM:308300
HP:0004404	Abnormal nipple morphology	26040	SETBP1	OMIM:269150
HP:0004404	Abnormal nipple morphology	9653	HS2ST1	OMIM:619194
HP:0004404	Abnormal nipple morphology	10771	ZMYND11	OMIM:616083
HP:0004404	Abnormal nipple morphology	8294	H4C9	OMIM:619951
HP:0004404	Abnormal nipple morphology	10765	KDM5B	OMIM:618109
HP:0004404	Abnormal nipple morphology	5648	MASP1	OMIM:257920
HP:0004404	Abnormal nipple morphology	5648	MASP1	ORPHA:293843
HP:0004404	Abnormal nipple morphology	10054	UBA2	OMIM:619959
HP:0004404	Abnormal nipple morphology	57514	ARHGAP31	OMIM:100300
HP:0004404	Abnormal nipple morphology	60	ACTB	ORPHA:64755
HP:0004404	Abnormal nipple morphology	4191	MDH2	OMIM:617339
HP:0004404	Abnormal nipple morphology	23028	KDM1A	OMIM:616728
HP:0004404	Abnormal nipple morphology	23028	KDM1A	ORPHA:477993
HP:0004404	Abnormal nipple morphology	9839	ZEB2	OMIM:235730
HP:0004404	Abnormal nipple morphology	6925	TCF4	ORPHA:2896
HP:0004404	Abnormal nipple morphology	6925	TCF4	OMIM:610954
HP:0004404	Abnormal nipple morphology	80816	ASXL3	OMIM:615485
HP:0004404	Abnormal nipple morphology	23112	TNRC6B	OMIM:619243
HP:0004404	Abnormal nipple morphology	10220	GDF11	OMIM:619122
HP:0004404	Abnormal nipple morphology	1723	DHODH	OMIM:263750
HP:0004404	Abnormal nipple morphology	1723	DHODH	ORPHA:246
HP:0004404	Abnormal nipple morphology	283489	CHAMP1	OMIM:616579
HP:0004404	Abnormal nipple morphology	150468	CKAP2L	ORPHA:3255
HP:0004404	Abnormal nipple morphology	4841	NONO	ORPHA:466791
HP:0004404	Abnormal nipple morphology	84992	PIGY	ORPHA:247262
HP:0004404	Abnormal nipple morphology	84720	PIGO	ORPHA:247262
HP:0004404	Abnormal nipple morphology	93210	PGAP3	ORPHA:247262
HP:0004404	Abnormal nipple morphology	284098	PIGW	ORPHA:247262
HP:0004404	Abnormal nipple morphology	27315	PGAP2	ORPHA:247262
HP:0004404	Abnormal nipple morphology	55650	PIGV	ORPHA:247262
HP:0004404	Abnormal nipple morphology	5528	PPP2R5D	ORPHA:457279
HP:0004404	Abnormal nipple morphology	10274	STAG1	OMIM:617635
HP:0004404	Abnormal nipple morphology	7021	TFAP2B	ORPHA:46627
HP:0004404	Abnormal nipple morphology	10584	COLEC10	ORPHA:293843
HP:0004404	Abnormal nipple morphology	78989	COLEC11	ORPHA:293843
HP:0004404	Abnormal nipple morphology	1000	CDH2	OMIM:618929
HP:0004404	Abnormal nipple morphology	54476	RNF216	ORPHA:1173
HP:0004404	Abnormal nipple morphology	10908	PNPLA6	ORPHA:1173
HP:0004404	Abnormal nipple morphology	8295	TRRAP	OMIM:618454
HP:0004404	Abnormal nipple morphology	1656	DDX6	OMIM:618653
HP:0004404	Abnormal nipple morphology	57728	WDR19	OMIM:614376
HP:0004404	Abnormal nipple morphology	9896	FIG4	OMIM:216340
HP:0004404	Abnormal nipple morphology	1896	EDA	OMIM:305100
HP:0004404	Abnormal nipple morphology	8626	TP63	ORPHA:69085
HP:0004404	Abnormal nipple morphology	8626	TP63	ORPHA:978
HP:0004404	Abnormal nipple morphology	8626	TP63	OMIM:103285
HP:0004404	Abnormal nipple morphology	340419	RSPO2	OMIM:618021
HP:0004404	Abnormal nipple morphology	5792	PTPRF	OMIM:616001
HP:0004404	Abnormal nipple morphology	128178	EDARADD	OMIM:614940
HP:0004404	Abnormal nipple morphology	128178	EDARADD	OMIM:614941
HP:0004404	Abnormal nipple morphology	29957	SLC25A24	OMIM:612289
HP:0004404	Abnormal nipple morphology	117581	TWIST2	OMIM:209885
HP:0004404	Abnormal nipple morphology	1009	CDH11	ORPHA:1299
HP:0004404	Abnormal nipple morphology	8085	KMT2D	OMIM:620186
HP:0004404	Abnormal nipple morphology	9487	PIGL	OMIM:280000
HP:0004404	Abnormal nipple morphology	7994	KAT6A	OMIM:616268
HP:0004404	Abnormal nipple morphology	404672	GTF2H5	ORPHA:33364
HP:0004404	Abnormal nipple morphology	833	CARS1	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2068	ERCC2	ORPHA:33364
HP:0004404	Abnormal nipple morphology	7737	RNF113A	ORPHA:33364
HP:0004404	Abnormal nipple morphology	136647	MPLKIP	ORPHA:33364
HP:0004404	Abnormal nipple morphology	6897	TARS1	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2071	ERCC3	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2961	GTF2E2	ORPHA:33364
HP:0004404	Abnormal nipple morphology	3020	H3-3A	OMIM:619720
HP:0004404	Abnormal nipple morphology	1798	DPAGT1	ORPHA:86309
HP:0004404	Abnormal nipple morphology	1798	DPAGT1	OMIM:608093
HP:0004404	Abnormal nipple morphology	91949	COG7	OMIM:608779
HP:0004404	Abnormal nipple morphology	8504	PEX3	OMIM:617370
HP:0004404	Abnormal nipple morphology	11253	MAN1B1	ORPHA:397941
HP:0004404	Abnormal nipple morphology	11253	MAN1B1	OMIM:614202
HP:0004404	Abnormal nipple morphology	253738	EBF3	OMIM:617330
HP:0004404	Abnormal nipple morphology	51604	PIGT	OMIM:615398
HP:0004404	Abnormal nipple morphology	51604	PIGT	ORPHA:369837
HP:0004404	Abnormal nipple morphology	7355	SLC35A2	ORPHA:356961
HP:0004404	Abnormal nipple morphology	775	CACNA1C	OMIM:620029
HP:0004404	Abnormal nipple morphology	6418	SET	OMIM:618106
HP:0004404	Abnormal nipple morphology	3703	STT3A	OMIM:619714
HP:0004404	Abnormal nipple morphology	79796	ALG9	OMIM:608776
HP:0004404	Abnormal nipple morphology	79796	ALG9	ORPHA:79328
HP:0004404	Abnormal nipple morphology	8936	WASF1	OMIM:618707
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	ORPHA:453504
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	OMIM:616580
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	ORPHA:352665
HP:0004404	Abnormal nipple morphology	4784	NFIX	ORPHA:447980
HP:0004404	Abnormal nipple morphology	4247	MGAT2	ORPHA:79329
HP:0004404	Abnormal nipple morphology	440138	ALG11	ORPHA:280071
HP:0004404	Abnormal nipple morphology	440138	ALG11	OMIM:613661
HP:0004404	Abnormal nipple morphology	29998	BICRA	OMIM:619325
HP:0004404	Abnormal nipple morphology	6942	TCF20	OMIM:618430
HP:0004404	Abnormal nipple morphology	473	RERE	OMIM:616975
HP:0004404	Abnormal nipple morphology	79644	SRD5A3	OMIM:612379
HP:0004404	Abnormal nipple morphology	91869	RFT1	OMIM:612015
HP:0004404	Abnormal nipple morphology	91869	RFT1	ORPHA:244310
HP:0004404	Abnormal nipple morphology	388015	RTL1	ORPHA:96334
HP:0004404	Abnormal nipple morphology	8788	DLK1	ORPHA:96334
HP:0004404	Abnormal nipple morphology	55384	MEG3	ORPHA:96334
HP:0004404	Abnormal nipple morphology	2683	B4GALT1	ORPHA:79332
HP:0004404	Abnormal nipple morphology	51	ACOX1	OMIM:264470
HP:0004404	Abnormal nipple morphology	5373	PMM2	ORPHA:79318
HP:0004404	Abnormal nipple morphology	5373	PMM2	OMIM:212065
HP:0004404	Abnormal nipple morphology	85365	ALG2	OMIM:607906
HP:0004404	Abnormal nipple morphology	50619	DEF6	OMIM:619573
HP:0004404	Abnormal nipple morphology	91137	SLC25A46	OMIM:616505
HP:0004404	Abnormal nipple morphology	2146	EZH2	OMIM:277590
HP:0004404	Abnormal nipple morphology	9757	KMT2B	OMIM:619934
HP:0004404	Abnormal nipple morphology	51322	WAC	OMIM:616708
HP:0004404	Abnormal nipple morphology	51322	WAC	ORPHA:466950
HP:0004404	Abnormal nipple morphology	10195	ALG3	ORPHA:79321
HP:0004404	Abnormal nipple morphology	8813	DPM1	ORPHA:79322
HP:0004404	Abnormal nipple morphology	79087	ALG12	ORPHA:79324
HP:0004404	Abnormal nipple morphology	79087	ALG12	OMIM:607143
HP:0004404	Abnormal nipple morphology	79053	ALG8	ORPHA:79325
HP:0004404	Abnormal nipple morphology	6926	TBX3	OMIM:181450
HP:0004404	Abnormal nipple morphology	55553	SOX6	OMIM:618971
HP:0004404	Abnormal nipple morphology	497661	C18orf32	OMIM:619985
HP:0004404	Abnormal nipple morphology	1822	ATN1	OMIM:618494
HP:0004404	Abnormal nipple morphology	3930	LBR	OMIM:618019
HP:0004404	Abnormal nipple morphology	27152	INTU	OMIM:617926
HP:0004404	Abnormal nipple morphology	3720	JARID2	OMIM:620098
HP:0004404	Abnormal nipple morphology	3643	INSR	ORPHA:508
HP:0004404	Abnormal nipple morphology	3643	INSR	OMIM:246200
HP:0004404	Abnormal nipple morphology	25782	RAB3GAP2	OMIM:212720
HP:0004404	Abnormal nipple morphology	3480	IGF1R	ORPHA:73273
HP:0004404	Abnormal nipple morphology	3480	IGF1R	OMIM:270450
HP:0004404	Abnormal nipple morphology	9949	AMMECR1	OMIM:300990
HP:0004404	Abnormal nipple morphology	2260	FGFR1	ORPHA:432
HP:0004404	Abnormal nipple morphology	81848	SPRY4	ORPHA:432
HP:0004404	Abnormal nipple morphology	128674	PROKR2	ORPHA:432
HP:0004404	Abnormal nipple morphology	2253	FGF8	ORPHA:432
HP:0004404	Abnormal nipple morphology	60675	PROK2	ORPHA:432
HP:0004404	Abnormal nipple morphology	55636	CHD7	ORPHA:432
HP:0004404	Abnormal nipple morphology	6870	TACR3	ORPHA:432
HP:0004404	Abnormal nipple morphology	1848	DUSP6	ORPHA:432
HP:0004404	Abnormal nipple morphology	26012	NSMF	ORPHA:432
HP:0004404	Abnormal nipple morphology	55717	WDR11	ORPHA:432
HP:0004404	Abnormal nipple morphology	9394	HS6ST1	ORPHA:432
HP:0004404	Abnormal nipple morphology	2796	GNRH1	ORPHA:432
HP:0004404	Abnormal nipple morphology	2798	GNRHR	ORPHA:432
HP:0004404	Abnormal nipple morphology	84634	KISS1R	ORPHA:432
HP:0004404	Abnormal nipple morphology	6866	TAC3	ORPHA:432
HP:0004404	Abnormal nipple morphology	8822	FGF17	ORPHA:432
HP:0004404	Abnormal nipple morphology	3814	KISS1	ORPHA:432
HP:0004404	Abnormal nipple morphology	55906	ZC4H2	OMIM:301041
HP:0004404	Abnormal nipple morphology	23394	ADNP	ORPHA:404448
HP:0004404	Abnormal nipple morphology	199857	ALG14	OMIM:619036
HP:0004404	Abnormal nipple morphology	341640	FREM2	ORPHA:2052
HP:0004404	Abnormal nipple morphology	80144	FRAS1	ORPHA:2052
HP:0004404	Abnormal nipple morphology	80144	FRAS1	OMIM:219000
HP:0004404	Abnormal nipple morphology	23426	GRIP1	ORPHA:2052
HP:0004404	Abnormal nipple morphology	26128	KIFBP	OMIM:609460
HP:0004404	Abnormal nipple morphology	9759	HDAC4	ORPHA:1001
HP:0004404	Abnormal nipple morphology	55627	SMPD4	OMIM:618622
HP:0004404	Abnormal nipple morphology	145173	B3GLCT	ORPHA:709
HP:0004404	Abnormal nipple morphology	145173	B3GLCT	OMIM:261540
HP:0004404	Abnormal nipple morphology	79848	CSPP1	ORPHA:397715
HP:0004404	Abnormal nipple morphology	9786	KIAA0586	ORPHA:397715
HP:0004404	Abnormal nipple morphology	7707	ZNF148	OMIM:617260
HP:0004404	Abnormal nipple morphology	1349	COX7B	OMIM:300887
HP:0004404	Abnormal nipple morphology	10300	KATNB1	OMIM:616212
HP:0004404	Abnormal nipple morphology	22858	CILK1	OMIM:612651
HP:0004404	Abnormal nipple morphology	55690	PACS1	OMIM:615009
HP:0004404	Abnormal nipple morphology	55690	PACS1	ORPHA:329224
HP:0004404	Abnormal nipple morphology	4081	MAB21L1	OMIM:618479
HP:0004404	Abnormal nipple morphology	10982	MAPRE2	OMIM:616734
HP:0004404	Abnormal nipple morphology	1717	DHCR7	ORPHA:818
HP:0004404	Abnormal nipple morphology	5818	NECTIN1	ORPHA:3253
HP:0004404	Abnormal nipple morphology	55780	ERMARD	ORPHA:75857
HP:0004404	Abnormal nipple morphology	79158	GNPTAB	OMIM:252500
HP:0004404	Abnormal nipple morphology	9382	COG1	OMIM:611209
HP:0004404	Abnormal nipple morphology	3417	IDH1	ORPHA:99646
HP:0004404	Abnormal nipple morphology	55870	ASH1L	OMIM:617796
HP:0004404	Abnormal nipple morphology	9469	CHST3	OMIM:143095
HP:0004404	Abnormal nipple morphology	23511	NUP188	OMIM:618804
HP:0004404	Abnormal nipple morphology	2626	GATA4	ORPHA:251071
HP:0004404	Abnormal nipple morphology	7020	TFAP2A	OMIM:113620
HP:0004404	Abnormal nipple morphology	23116	TOGARAM1	OMIM:619185
HP:0004404	Abnormal nipple morphology	7319	UBE2A	OMIM:300860
HP:0004404	Abnormal nipple morphology	7319	UBE2A	ORPHA:163956
HP:0004404	Abnormal nipple morphology	10087	CERT1	OMIM:616351
HP:0004404	Abnormal nipple morphology	8726	EED	OMIM:617561
HP:0004404	Abnormal nipple morphology	22884	WDR37	OMIM:618652
HP:0004404	Abnormal nipple morphology	372	ARCN1	OMIM:617164
HP:0004404	Abnormal nipple morphology	2783	GNB2	OMIM:619503
HP:0004404	Abnormal nipple morphology	5826	ABCD4	OMIM:614857
HP:0004404	Abnormal nipple morphology	4763	NF1	ORPHA:97685
HP:0004404	Abnormal nipple morphology	79718	TBL1XR1	ORPHA:487825
HP:0004404	Abnormal nipple morphology	79718	TBL1XR1	OMIM:602342
HP:0004404	Abnormal nipple morphology	2074	ERCC6	OMIM:214150
HP:0004404	Abnormal nipple morphology	6611	SMS	ORPHA:3063
HP:0004404	Abnormal nipple morphology	6611	SMS	OMIM:309583
HP:0004404	Abnormal nipple morphology	22931	RAB18	OMIM:614222
HP:0004404	Abnormal nipple morphology	92609	TIMM50	OMIM:617698
HP:0004404	Abnormal nipple morphology	54499	TMCO1	OMIM:213980
HP:0004404	Abnormal nipple morphology	5293	PIK3CD	ORPHA:221139
HP:0004404	Abnormal nipple morphology	90417	KNSTRN	ORPHA:221139
HP:0004404	Abnormal nipple morphology	6595	SMARCA2	ORPHA:3051
HP:0004404	Abnormal nipple morphology	8567	MADD	OMIM:619004
HP:0004404	Abnormal nipple morphology	91875	TTC5	OMIM:619244
HP:0004404	Abnormal nipple morphology	5500	PPP1CB	OMIM:617506
HP:0004404	Abnormal nipple morphology	9772	TMEM94	OMIM:618316
HP:0004404	Abnormal nipple morphology	79971	WLS	OMIM:619648
HP:0004404	Abnormal nipple morphology	673	BRAF	OMIM:613707
HP:0004404	Abnormal nipple morphology	673	BRAF	OMIM:163950
HP:0004404	Abnormal nipple morphology	3911	LAMA5	OMIM:620076
HP:0004404	Abnormal nipple morphology	139285	AMER1	OMIM:300373
HP:0004404	Abnormal nipple morphology	1376	CPT2	OMIM:608836
HP:0004404	Abnormal nipple morphology	84231	TRAF7	OMIM:618164
HP:0004404	Abnormal nipple morphology	200205	IBA57	OMIM:615330
HP:0004404	Abnormal nipple morphology	284058	KANSL1	OMIM:610443
HP:0004404	Abnormal nipple morphology	22800	RRAS2	ORPHA:648
HP:0004404	Abnormal nipple morphology	867	CBL	ORPHA:648
HP:0004404	Abnormal nipple morphology	867	CBL	OMIM:613563
HP:0004404	Abnormal nipple morphology	8216	LZTR1	ORPHA:648
HP:0004404	Abnormal nipple morphology	8216	LZTR1	OMIM:605275
HP:0004404	Abnormal nipple morphology	6016	RIT1	ORPHA:648
HP:0004404	Abnormal nipple morphology	6237	RRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	5894	RAF1	ORPHA:648
HP:0004404	Abnormal nipple morphology	22808	MRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	3845	KRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	200734	SPRED2	ORPHA:648
HP:0004404	Abnormal nipple morphology	4893	NRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	6654	SOS1	ORPHA:648
HP:0004404	Abnormal nipple morphology	6654	SOS1	OMIM:610733
HP:0004404	Abnormal nipple morphology	6655	SOS2	ORPHA:648
HP:0004404	Abnormal nipple morphology	5781	PTPN11	ORPHA:648
HP:0004404	Abnormal nipple morphology	5781	PTPN11	OMIM:163950
HP:0004404	Abnormal nipple morphology	5922	RASA2	ORPHA:648
HP:0004404	Abnormal nipple morphology	171023	ASXL1	OMIM:605039
HP:0004404	Abnormal nipple morphology	8621	CDK13	OMIM:617360
HP:0004404	Abnormal nipple morphology	54101	RIPK4	OMIM:263650
HP:0004404	Abnormal nipple morphology	9181	ARHGEF2	OMIM:617523
HP:0004404	Abnormal nipple morphology	29968	PSAT1	OMIM:616038
HP:0004404	Abnormal nipple morphology	6736	SRY	ORPHA:1772
HP:0004404	Abnormal nipple morphology	2719	GPC3	OMIM:312870
HP:0004404	Abnormal nipple morphology	2239	GPC4	OMIM:312870
HP:0004404	Abnormal nipple morphology	55770	EXOC2	OMIM:619306
HP:0004404	Abnormal nipple morphology	5604	MAP2K1	OMIM:163950
HP:0004404	Abnormal nipple morphology	9897	WASHC5	ORPHA:7
HP:0004404	Abnormal nipple morphology	28952	CCDC22	ORPHA:7
HP:0004404	Abnormal nipple morphology	284252	KCTD1	OMIM:181270
HP:0004404	Abnormal nipple morphology	284252	KCTD1	ORPHA:2036
HP:0004404	Abnormal nipple morphology	55697	VAC14	ORPHA:3472
HP:0004404	Abnormal nipple morphology	10815	CPLX1	ORPHA:280
HP:0004404	Abnormal nipple morphology	54872	PIGG	ORPHA:280
HP:0004404	Abnormal nipple morphology	7469	NELFA	ORPHA:280
HP:0004404	Abnormal nipple morphology	1487	CTBP1	ORPHA:280
HP:0004404	Abnormal nipple morphology	3954	LETM1	ORPHA:280
HP:0004404	Abnormal nipple morphology	7468	NSD2	ORPHA:280
HP:0004404	Abnormal nipple morphology	1947	EFNB1	ORPHA:1520
HP:0004404	Abnormal nipple morphology	23556	PIGN	ORPHA:2059
HP:0004404	Abnormal nipple morphology	7473	WNT3	ORPHA:3301
HP:0004405	Prominent nipples	3643	INSR	ORPHA:508
HP:0004405	Prominent nipples	3643	INSR	OMIM:246200
HP:0004405	Prominent nipples	25782	RAB3GAP2	OMIM:212720
HP:0004407	Bony paranasal bossing	2697	GJA1	OMIM:218400
HP:0004407	Bony paranasal bossing	56172	ANKH	OMIM:123000
HP:0004408	Abnormality of the sense of smell	27019	DNAI1	OMIM:244400
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1	ORPHA:2250
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1	OMIM:603457
HP:0004408	Abnormality of the sense of smell	8822	FGF17	OMIM:615270
HP:0004408	Abnormality of the sense of smell	8822	FGF17	ORPHA:478
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	OMIM:244200
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	OMIM:147950
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	54585	LZTFL1	OMIM:615994
HP:0004408	Abnormality of the sense of smell	6938	TCF12	OMIM:619718
HP:0004408	Abnormality of the sense of smell	4808	NHLH2	OMIM:619755
HP:0004408	Abnormality of the sense of smell	286	ANK1	ORPHA:251066
HP:0004408	Abnormality of the sense of smell	60675	PROK2	OMIM:610628
HP:0004408	Abnormality of the sense of smell	60675	PROK2	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2488	FSHB	ORPHA:52901
HP:0004408	Abnormality of the sense of smell	5264	PHYH	OMIM:266500
HP:0004408	Abnormality of the sense of smell	5264	PHYH	ORPHA:773
HP:0004408	Abnormality of the sense of smell	55636	CHD7	OMIM:612370
HP:0004408	Abnormality of the sense of smell	55636	CHD7	ORPHA:138
HP:0004408	Abnormality of the sense of smell	55636	CHD7	OMIM:214800
HP:0004408	Abnormality of the sense of smell	55636	CHD7	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6335	SCN9A	OMIM:243000
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:613266
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:609136
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:611584
HP:0004408	Abnormality of the sense of smell	6663	SOX10	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2263	FGFR2	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	2261	FGFR3	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	2255	FGF10	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	84634	KISS1R	OMIM:614837
HP:0004408	Abnormality of the sense of smell	23516	SLC39A14	OMIM:144755
HP:0004408	Abnormality of the sense of smell	26012	NSMF	OMIM:614838
HP:0004408	Abnormality of the sense of smell	9723	SEMA3E	ORPHA:138
HP:0004408	Abnormality of the sense of smell	6866	TAC3	OMIM:614839
HP:0004408	Abnormality of the sense of smell	415	ARSL	OMIM:302950
HP:0004408	Abnormality of the sense of smell	79625	NDNF	OMIM:618841
HP:0004408	Abnormality of the sense of smell	79625	NDNF	ORPHA:478
HP:0004408	Abnormality of the sense of smell	9394	HS6ST1	OMIM:614880
HP:0004408	Abnormality of the sense of smell	9394	HS6ST1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2796	GNRH1	OMIM:614841
HP:0004408	Abnormality of the sense of smell	6469	SHH	OMIM:147250
HP:0004408	Abnormality of the sense of smell	3814	KISS1	OMIM:614842
HP:0004408	Abnormality of the sense of smell	2253	FGF8	OMIM:612702
HP:0004408	Abnormality of the sense of smell	2253	FGF8	ORPHA:478
HP:0004408	Abnormality of the sense of smell	23400	ATP13A2	OMIM:606693
HP:0004408	Abnormality of the sense of smell	3730	ANOS1	OMIM:308700
HP:0004408	Abnormality of the sense of smell	3730	ANOS1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	389549	FEZF1	OMIM:616030
HP:0004408	Abnormality of the sense of smell	389549	FEZF1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	54756	IL17RD	OMIM:615267
HP:0004408	Abnormality of the sense of smell	54756	IL17RD	ORPHA:478
HP:0004408	Abnormality of the sense of smell	109	ADCY3	OMIM:617885
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A	OMIM:614897
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A	ORPHA:478
HP:0004408	Abnormality of the sense of smell	55717	WDR11	OMIM:614858
HP:0004408	Abnormality of the sense of smell	55717	WDR11	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6657	SOX2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	6658	SOX3	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	9915	ARNT2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	8820	HESX1	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	8820	HESX1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5015	OTX2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	9927	MFN2	OMIM:601152
HP:0004408	Abnormality of the sense of smell	81848	SPRY4	ORPHA:478
HP:0004408	Abnormality of the sense of smell	23767	FLRT3	ORPHA:478
HP:0004408	Abnormality of the sense of smell	1630	DCC	ORPHA:478
HP:0004408	Abnormality of the sense of smell	285025	CCDC141	ORPHA:478
HP:0004408	Abnormality of the sense of smell	1848	DUSP6	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6870	TACR3	ORPHA:478
HP:0004408	Abnormality of the sense of smell	3064	HTT	ORPHA:399
HP:0004408	Abnormality of the sense of smell	6515	SLC2A3	ORPHA:399
HP:0004408	Abnormality of the sense of smell	5727	PTCH1	ORPHA:377
HP:0004408	Abnormality of the sense of smell	8643	PTCH2	ORPHA:377
HP:0004408	Abnormality of the sense of smell	51684	SUFU	ORPHA:377
HP:0004408	Abnormality of the sense of smell	51684	SUFU	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5980	REV3L	ORPHA:570
HP:0004408	Abnormality of the sense of smell	23129	PLXND1	ORPHA:570
HP:0004408	Abnormality of the sense of smell	6662	SOX9	ORPHA:140
HP:0004408	Abnormality of the sense of smell	538	ATP7A	ORPHA:198
HP:0004408	Abnormality of the sense of smell	3972	LHB	OMIM:228300
HP:0004408	Abnormality of the sense of smell	23312	DMXL2	OMIM:616113
HP:0004408	Abnormality of the sense of smell	558	AXL	OMIM:146110
HP:0004408	Abnormality of the sense of smell	2798	GNRHR	OMIM:146110
HP:0004408	Abnormality of the sense of smell	10011	SRA1	OMIM:146110
HP:0004408	Abnormality of the sense of smell	219844	HYLS1	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	374654	KIF7	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	8314	BAP1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	4771	NF2	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6598	SMARCB1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5155	PDGFB	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	84231	TRAF7	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6608	SMO	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	207	AKT1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5290	PIK3CA	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	7015	TERT	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6605	SMARCE1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	10194	TSHZ1	OMIM:607842
HP:0004408	Abnormality of the sense of smell	11020	IFT27	OMIM:615996
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	OMIM:607060
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	59335	PRDM12	OMIM:616488
HP:0004408	Abnormality of the sense of smell	2629	GBA1	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	23317	DNAJC13	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	1981	EIF4G1	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	55737	VPS35	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	26058	GIGYF2	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6622	SNCA	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6622	SNCA	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	80184	CEP290	OMIM:611755
HP:0004408	Abnormality of the sense of smell	5781	PTPN11	OMIM:151100
HP:0004408	Abnormality of the sense of smell	1656	DDX6	OMIM:618653
HP:0004408	Abnormality of the sense of smell	54832	VPS13C	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	11315	PARK7	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	7345	UCHL1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	27429	HTRA2	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	9829	DNAJC6	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5420	PODXL	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	65018	PINK1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	8867	SYNJ1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5071	PRKN	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	6342	SCP2	OMIM:613724
HP:0004408	Abnormality of the sense of smell	540	ATP7B	OMIM:277900
HP:0004408	Abnormality of the sense of smell	5191	PEX7	OMIM:614879
HP:0004408	Abnormality of the sense of smell	5649	RELN	OMIM:600512
HP:0004408	Abnormality of the sense of smell	64780	MICAL1	OMIM:600512
HP:0004408	Abnormality of the sense of smell	9211	LGI1	OMIM:600512
HP:0004409	Hyposmia	10194	TSHZ1	OMIM:607842
HP:0004409	Hyposmia	23347	SMCHD1	ORPHA:2250
HP:0004409	Hyposmia	23767	FLRT3	OMIM:615271
HP:0004409	Hyposmia	23767	FLRT3	ORPHA:478
HP:0004409	Hyposmia	128674	PROKR2	OMIM:244200
HP:0004409	Hyposmia	128674	PROKR2	ORPHA:478
HP:0004409	Hyposmia	11020	IFT27	OMIM:615996
HP:0004409	Hyposmia	120892	LRRK2	OMIM:607060
HP:0004409	Hyposmia	120892	LRRK2	ORPHA:411602
HP:0004409	Hyposmia	120892	LRRK2	ORPHA:2828
HP:0004409	Hyposmia	2260	FGFR1	OMIM:147950
HP:0004409	Hyposmia	2260	FGFR1	ORPHA:478
HP:0004409	Hyposmia	59335	PRDM12	OMIM:616488
HP:0004409	Hyposmia	54585	LZTFL1	OMIM:615994
HP:0004409	Hyposmia	2629	GBA1	ORPHA:411602
HP:0004409	Hyposmia	23317	DNAJC13	ORPHA:411602
HP:0004409	Hyposmia	1981	EIF4G1	ORPHA:411602
HP:0004409	Hyposmia	55737	VPS35	ORPHA:411602
HP:0004409	Hyposmia	26058	GIGYF2	ORPHA:411602
HP:0004409	Hyposmia	6622	SNCA	ORPHA:411602
HP:0004409	Hyposmia	6622	SNCA	ORPHA:2828
HP:0004409	Hyposmia	2253	FGF8	OMIM:612702
HP:0004409	Hyposmia	2253	FGF8	ORPHA:478
HP:0004409	Hyposmia	80184	CEP290	OMIM:611755
HP:0004409	Hyposmia	60675	PROK2	OMIM:610628
HP:0004409	Hyposmia	60675	PROK2	ORPHA:478
HP:0004409	Hyposmia	23400	ATP13A2	OMIM:606693
HP:0004409	Hyposmia	3730	ANOS1	OMIM:308700
HP:0004409	Hyposmia	3730	ANOS1	ORPHA:478
HP:0004409	Hyposmia	5781	PTPN11	OMIM:151100
HP:0004409	Hyposmia	1656	DDX6	OMIM:618653
HP:0004409	Hyposmia	81848	SPRY4	OMIM:615266
HP:0004409	Hyposmia	81848	SPRY4	ORPHA:478
HP:0004409	Hyposmia	6335	SCN9A	OMIM:243000
HP:0004409	Hyposmia	109	ADCY3	OMIM:617885
HP:0004409	Hyposmia	10371	SEMA3A	OMIM:614897
HP:0004409	Hyposmia	10371	SEMA3A	ORPHA:478
HP:0004409	Hyposmia	54832	VPS13C	ORPHA:2828
HP:0004409	Hyposmia	11315	PARK7	ORPHA:2828
HP:0004409	Hyposmia	7345	UCHL1	ORPHA:2828
HP:0004409	Hyposmia	27429	HTRA2	ORPHA:2828
HP:0004409	Hyposmia	9829	DNAJC6	ORPHA:2828
HP:0004409	Hyposmia	5420	PODXL	ORPHA:2828
HP:0004409	Hyposmia	65018	PINK1	ORPHA:2828
HP:0004409	Hyposmia	8867	SYNJ1	ORPHA:2828
HP:0004409	Hyposmia	5071	PRKN	ORPHA:2828
HP:0004409	Hyposmia	6342	SCP2	OMIM:613724
HP:0004409	Hyposmia	23516	SLC39A14	OMIM:144755
HP:0004409	Hyposmia	26012	NSMF	OMIM:614838
HP:0004409	Hyposmia	540	ATP7B	OMIM:277900
HP:0004409	Hyposmia	79625	NDNF	ORPHA:478
HP:0004409	Hyposmia	389549	FEZF1	ORPHA:478
HP:0004409	Hyposmia	1630	DCC	ORPHA:478
HP:0004409	Hyposmia	54756	IL17RD	ORPHA:478
HP:0004409	Hyposmia	6663	SOX10	ORPHA:478
HP:0004409	Hyposmia	285025	CCDC141	ORPHA:478
HP:0004409	Hyposmia	55636	CHD7	ORPHA:478
HP:0004409	Hyposmia	1848	DUSP6	ORPHA:478
HP:0004409	Hyposmia	6870	TACR3	ORPHA:478
HP:0004409	Hyposmia	55717	WDR11	ORPHA:478
HP:0004409	Hyposmia	9394	HS6ST1	ORPHA:478
HP:0004409	Hyposmia	8820	HESX1	ORPHA:478
HP:0004409	Hyposmia	8822	FGF17	ORPHA:478
HP:0004411	Deviated nasal septum	1387	CREBBP	OMIM:180849
HP:0004411	Deviated nasal septum	2033	EP300	OMIM:180849
HP:0004411	Deviated nasal septum	56915	EXOSC5	OMIM:619576
HP:0004411	Deviated nasal septum	4841	NONO	OMIM:300967
HP:0004411	Deviated nasal septum	5053	PAH	ORPHA:2209
HP:0004411	Deviated nasal septum	2263	FGFR2	OMIM:123500
HP:0004411	Deviated nasal septum	4763	NF1	ORPHA:139474
HP:0003191	Cleft ala nasi	64840	PORCN	OMIM:305600
HP:0003191	Cleft ala nasi	341640	FREM2	ORPHA:2052
HP:0003191	Cleft ala nasi	80144	FRAS1	ORPHA:2052
HP:0003191	Cleft ala nasi	80144	FRAS1	OMIM:219000
HP:0003191	Cleft ala nasi	23426	GRIP1	ORPHA:2052
HP:0003191	Cleft ala nasi	60529	ALX4	OMIM:613451
HP:0004414	Abnormality of the pulmonary artery	4286	MITF	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	7299	TYR	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	6591	SNAI2	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	1910	EDNRB	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	4254	KITLG	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	6663	SOX10	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA	ORPHA:363618
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA	ORPHA:79474
HP:0004414	Abnormality of the pulmonary artery	145173	B3GLCT	ORPHA:709
HP:0004414	Abnormality of the pulmonary artery	5080	PAX6	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	3708	ITPR1	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	55109	AGGF1	ORPHA:90308
HP:0004414	Abnormality of the pulmonary artery	673	BRAF	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	9968	MED12	OMIM:301068
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	OMIM:300998
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	ORPHA:459070
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	ORPHA:435938
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10	OMIM:208050
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10	ORPHA:3342
HP:0004414	Abnormality of the pulmonary artery	1272	CNTN1	OMIM:612540
HP:0004414	Abnormality of the pulmonary artery	10082	GPC6	OMIM:258315
HP:0004414	Abnormality of the pulmonary artery	64919	BCL11B	OMIM:617237
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6	ORPHA:2255
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6	OMIM:600001
HP:0004414	Abnormality of the pulmonary artery	22800	RRAS2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	867	CBL	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	8216	LZTR1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6016	RIT1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6237	RRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	5894	RAF1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	22808	MRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	3845	KRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	200734	SPRED2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	4893	NRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6654	SOS1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6655	SOS2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	5781	PTPN11	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	5922	RASA2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	7486	WRN	ORPHA:902
HP:0004414	Abnormality of the pulmonary artery	54361	WNT4	OMIM:611812
HP:0004414	Abnormality of the pulmonary artery	415	ARSL	ORPHA:79345
HP:0004414	Abnormality of the pulmonary artery	10312	TCIRG1	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	1186	CLCN7	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	29887	SNX10	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	8600	TNFSF11	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	2626	GATA4	ORPHA:251071
HP:0004414	Abnormality of the pulmonary artery	5422	POLA1	OMIM:301030
HP:0004414	Abnormality of the pulmonary artery	2623	GATA1	OMIM:190685
HP:0004414	Abnormality of the pulmonary artery	93233	ODAD1	OMIM:615067
HP:0004414	Abnormality of the pulmonary artery	388015	RTL1	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	8788	DLK1	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	55384	MEG3	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	2294	FOXF1	OMIM:265380
HP:0004414	Abnormality of the pulmonary artery	30008	EFEMP2	OMIM:614437
HP:0004414	Abnormality of the pulmonary artery	59	ACTA2	OMIM:613834
HP:0004414	Abnormality of the pulmonary artery	171019	ADAMTS19	OMIM:620067
HP:0004414	Abnormality of the pulmonary artery	79989	IFT56	OMIM:619534
HP:0004414	Abnormality of the pulmonary artery	2200	FBN1	OMIM:154700
HP:0004414	Abnormality of the pulmonary artery	7092	TLL1	ORPHA:99106
HP:0004414	Abnormality of the pulmonary artery	5337	PLD1	OMIM:212093
HP:0004414	Abnormality of the pulmonary artery	78987	CRELD1	OMIM:606217
HP:0004414	Abnormality of the pulmonary artery	84231	TRAF7	OMIM:618164
HP:0004414	Abnormality of the pulmonary artery	2324	FLT4	OMIM:618780
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	OMIM:208530
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	OMIM:613854
HP:0004414	Abnormality of the pulmonary artery	93	ACVR2B	OMIM:613751
HP:0004414	Abnormality of the pulmonary artery	1482	NKX2-5	OMIM:108900
HP:0004414	Abnormality of the pulmonary artery	8772	FADD	OMIM:613759
HP:0004414	Abnormality of the pulmonary artery	8772	FADD	ORPHA:306550
HP:0004414	Abnormality of the pulmonary artery	4838	NODAL	OMIM:270100
HP:0004414	Abnormality of the pulmonary artery	64220	STRA6	OMIM:601186
HP:0004414	Abnormality of the pulmonary artery	6597	SMARCA4	OMIM:614609
HP:0004414	Abnormality of the pulmonary artery	55593	OTUD5	OMIM:301056
HP:0004414	Abnormality of the pulmonary artery	1857	DVL3	OMIM:616894
HP:0004414	Abnormality of the pulmonary artery	168507	PKD1L1	OMIM:617205
HP:0004414	Abnormality of the pulmonary artery	55636	CHD7	OMIM:214800
HP:0004414	Abnormality of the pulmonary artery	9772	TMEM94	OMIM:618316
HP:0004414	Abnormality of the pulmonary artery	100128908	CIROP	OMIM:619702
HP:0004414	Abnormality of the pulmonary artery	9993	DGCR2	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	8220	ESS2	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	8214	DGCR6	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	54487	DGCR8	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	6899	TBX1	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	118924	FRA10AC1	OMIM:620113
HP:0004414	Abnormality of the pulmonary artery	3516	RBPJ	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	4851	NOTCH1	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	57514	ARHGAP31	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	57572	DOCK6	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	285203	EOGT	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	54567	DLL4	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	7046	TGFBR1	OMIM:609192
HP:0004414	Abnormality of the pulmonary artery	7048	TGFBR2	OMIM:610168
HP:0004414	Abnormality of the pulmonary artery	1281	COL3A1	ORPHA:286
HP:0004414	Abnormality of the pulmonary artery	1289	COL5A1	OMIM:619329
HP:0004414	Abnormality of the pulmonary artery	633	BGN	OMIM:300989
HP:0004414	Abnormality of the pulmonary artery	10526	IPO8	OMIM:619472
HP:0004414	Abnormality of the pulmonary artery	10491	CRTAP	OMIM:610682
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	ORPHA:261537
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	ORPHA:261552
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	OMIM:235730
HP:0004414	Abnormality of the pulmonary artery	55181	SMG8	OMIM:619268
HP:0004414	Abnormality of the pulmonary artery	3977	LIFR	OMIM:601559
HP:0004414	Abnormality of the pulmonary artery	57551	TAOK1	OMIM:619575
HP:0004414	Abnormality of the pulmonary artery	182	JAG1	OMIM:617992
HP:0004414	Abnormality of the pulmonary artery	182	JAG1	OMIM:118450
HP:0004414	Abnormality of the pulmonary artery	8260	NAA10	OMIM:300855
HP:0004414	Abnormality of the pulmonary artery	54880	BCOR	ORPHA:2712
HP:0004414	Abnormality of the pulmonary artery	8425	LTBP4	OMIM:613177
HP:0004414	Abnormality of the pulmonary artery	92002	CCNQ	OMIM:300707
HP:0004414	Abnormality of the pulmonary artery	9487	PIGL	OMIM:280000
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	ORPHA:90348
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	OMIM:123700
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	10516	FBLN5	ORPHA:90348
HP:0004414	Abnormality of the pulmonary artery	10516	FBLN5	ORPHA:90349
HP:0004414	Abnormality of the pulmonary artery	5832	ALDH18A1	ORPHA:90348
HP:0004414	Abnormality of the pulmonary artery	4052	LTBP1	ORPHA:90349
HP:0004414	Abnormality of the pulmonary artery	6804	STX1A	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	7461	CLIP2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84277	DNAJC30	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	8468	FKBP6	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	5982	RFC2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	2969	GTF2I	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	3984	LIMK1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	9569	GTF2IRD1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	155382	VPS37D	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	155368	METTL27	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	114049	BUD23	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	7458	EIF4H	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84163	GTF2IRD2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	9275	BCL7B	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	26608	TBL2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	653361	NCF1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	135886	TMEM270	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	51085	MLXIPL	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	51085	MLXIPL	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	9031	BAZ1B	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84720	PIGO	OMIM:614749
HP:0004414	Abnormality of the pulmonary artery	4853	NOTCH2	OMIM:610205
HP:0004414	Abnormality of the pulmonary artery	23556	PIGN	ORPHA:280633
HP:0004414	Abnormality of the pulmonary artery	112752	IFT43	OMIM:614099
HP:0004414	Abnormality of the pulmonary artery	2260	FGFR1	OMIM:613001
HP:0004414	Abnormality of the pulmonary artery	9652	SKIC3	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	6499	SKIC2	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	5500	PPP1CB	OMIM:617506
HP:0004414	Abnormality of the pulmonary artery	7319	UBE2A	ORPHA:163956
HP:0004414	Abnormality of the pulmonary artery	10293	TRAIP	OMIM:616777
HP:0004414	Abnormality of the pulmonary artery	10157	AASS	ORPHA:2203
HP:0004414	Abnormality of the pulmonary artery	4625	MYH7	OMIM:613426
HP:0004414	Abnormality of the pulmonary artery	137814	NKX2-6	ORPHA:3384
HP:0004414	Abnormality of the pulmonary artery	23129	PLXND1	ORPHA:3384
HP:0004414	Abnormality of the pulmonary artery	8854	ALDH1A2	OMIM:620025
HP:0004414	Abnormality of the pulmonary artery	4256	MGP	OMIM:245150
HP:0004414	Abnormality of the pulmonary artery	118856	MMP21	OMIM:616749
HP:0004414	Abnormality of the pulmonary artery	28952	CCDC22	OMIM:300963
HP:0004414	Abnormality of the pulmonary artery	659	BMPR2	OMIM:178600
HP:0004415	Pulmonary artery stenosis	9968	MED12	OMIM:301068
HP:0004415	Pulmonary artery stenosis	2294	FOXF1	OMIM:265380
HP:0004415	Pulmonary artery stenosis	137814	NKX2-6	ORPHA:3384
HP:0004415	Pulmonary artery stenosis	23129	PLXND1	ORPHA:3384
HP:0004415	Pulmonary artery stenosis	6134	RPL10	OMIM:300998
HP:0004415	Pulmonary artery stenosis	6134	RPL10	ORPHA:459070
HP:0004415	Pulmonary artery stenosis	6134	RPL10	ORPHA:435938
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10	OMIM:208050
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10	ORPHA:3342
HP:0004415	Pulmonary artery stenosis	1272	CNTN1	OMIM:612540
HP:0004415	Pulmonary artery stenosis	10082	GPC6	OMIM:258315
HP:0004415	Pulmonary artery stenosis	64919	BCL11B	OMIM:617237
HP:0004415	Pulmonary artery stenosis	57514	ARHGAP31	OMIM:100300
HP:0004415	Pulmonary artery stenosis	2627	GATA6	ORPHA:2255
HP:0004415	Pulmonary artery stenosis	2627	GATA6	OMIM:600001
HP:0004415	Pulmonary artery stenosis	22800	RRAS2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	867	CBL	ORPHA:648
HP:0004415	Pulmonary artery stenosis	8216	LZTR1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6016	RIT1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6237	RRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5894	RAF1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	22808	MRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	3845	KRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	200734	SPRED2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	4893	NRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6654	SOS1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6655	SOS2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5781	PTPN11	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5922	RASA2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	7486	WRN	ORPHA:902
HP:0004415	Pulmonary artery stenosis	54361	WNT4	OMIM:611812
HP:0004415	Pulmonary artery stenosis	9839	ZEB2	OMIM:235730
HP:0004415	Pulmonary artery stenosis	415	ARSL	ORPHA:79345
HP:0004415	Pulmonary artery stenosis	10312	TCIRG1	ORPHA:667
HP:0004415	Pulmonary artery stenosis	1186	CLCN7	ORPHA:667
HP:0004415	Pulmonary artery stenosis	29887	SNX10	ORPHA:667
HP:0004415	Pulmonary artery stenosis	8600	TNFSF11	ORPHA:667
HP:0004415	Pulmonary artery stenosis	2626	GATA4	ORPHA:251071
HP:0004415	Pulmonary artery stenosis	5422	POLA1	OMIM:301030
HP:0004415	Pulmonary artery stenosis	2623	GATA1	OMIM:190685
HP:0004415	Pulmonary artery stenosis	93233	ODAD1	OMIM:615067
HP:0004415	Pulmonary artery stenosis	1482	NKX2-5	OMIM:614432
HP:0004415	Pulmonary artery stenosis	388015	RTL1	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	8788	DLK1	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	55384	MEG3	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	57551	TAOK1	OMIM:619575
HP:0004415	Pulmonary artery stenosis	4256	MGP	OMIM:245150
HP:0004415	Pulmonary artery stenosis	182	JAG1	OMIM:617992
HP:0004415	Pulmonary artery stenosis	182	JAG1	OMIM:118450
HP:0004415	Pulmonary artery stenosis	8260	NAA10	OMIM:300855
HP:0004415	Pulmonary artery stenosis	54880	BCOR	ORPHA:2712
HP:0004415	Pulmonary artery stenosis	8425	LTBP4	OMIM:613177
HP:0004415	Pulmonary artery stenosis	92002	CCNQ	OMIM:300707
HP:0004415	Pulmonary artery stenosis	9487	PIGL	OMIM:280000
HP:0004415	Pulmonary artery stenosis	2006	ELN	ORPHA:90348
HP:0004415	Pulmonary artery stenosis	2006	ELN	ORPHA:904
HP:0004415	Pulmonary artery stenosis	2006	ELN	OMIM:123700
HP:0004415	Pulmonary artery stenosis	2006	ELN	OMIM:194050
HP:0004415	Pulmonary artery stenosis	10516	FBLN5	ORPHA:90348
HP:0004415	Pulmonary artery stenosis	10516	FBLN5	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	5832	ALDH18A1	ORPHA:90348
HP:0004415	Pulmonary artery stenosis	4052	LTBP1	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	30008	EFEMP2	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	6804	STX1A	ORPHA:904
HP:0004415	Pulmonary artery stenosis	7461	CLIP2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84277	DNAJC30	ORPHA:904
HP:0004415	Pulmonary artery stenosis	8468	FKBP6	ORPHA:904
HP:0004415	Pulmonary artery stenosis	5982	RFC2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	2969	GTF2I	ORPHA:904
HP:0004415	Pulmonary artery stenosis	3984	LIMK1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	9569	GTF2IRD1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	155382	VPS37D	ORPHA:904
HP:0004415	Pulmonary artery stenosis	155368	METTL27	ORPHA:904
HP:0004415	Pulmonary artery stenosis	114049	BUD23	ORPHA:904
HP:0004415	Pulmonary artery stenosis	7458	EIF4H	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84163	GTF2IRD2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	9275	BCL7B	ORPHA:904
HP:0004415	Pulmonary artery stenosis	26608	TBL2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	653361	NCF1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	135886	TMEM270	ORPHA:904
HP:0004415	Pulmonary artery stenosis	51085	MLXIPL	ORPHA:904
HP:0004415	Pulmonary artery stenosis	51085	MLXIPL	OMIM:194050
HP:0004415	Pulmonary artery stenosis	9031	BAZ1B	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84720	PIGO	OMIM:614749
HP:0004415	Pulmonary artery stenosis	4853	NOTCH2	OMIM:610205
HP:0004415	Pulmonary artery stenosis	23556	PIGN	ORPHA:280633
HP:0004415	Pulmonary artery stenosis	112752	IFT43	OMIM:614099
HP:0004415	Pulmonary artery stenosis	2260	FGFR1	OMIM:613001
HP:0004415	Pulmonary artery stenosis	9652	SKIC3	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	6499	SKIC2	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	5500	PPP1CB	OMIM:617506
HP:0004415	Pulmonary artery stenosis	7319	UBE2A	ORPHA:163956
HP:0004416	Precocious atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0004416	Precocious atherosclerosis	3949	LDLR	ORPHA:391665
HP:0004416	Precocious atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0004416	Precocious atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0004416	Precocious atherosclerosis	338	APOB	ORPHA:391665
HP:0004416	Precocious atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0004416	Precocious atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0004416	Precocious atherosclerosis	7148	TNXB	ORPHA:230839
HP:0004416	Precocious atherosclerosis	4000	LMNA	ORPHA:280365
HP:0004416	Precocious atherosclerosis	4000	LMNA	OMIM:176670
HP:0004416	Precocious atherosclerosis	116519	APOA5	OMIM:145750
HP:0004416	Precocious atherosclerosis	1071	CETP	ORPHA:79506
HP:0004416	Precocious atherosclerosis	345	APOC3	ORPHA:79506
HP:0004416	Precocious atherosclerosis	4023	LPL	OMIM:238600
HP:0004417	Intermittent claudication	4907	NT5E	OMIM:211800
HP:0004417	Intermittent claudication	189	AGXT	OMIM:259900
HP:0004417	Intermittent claudication	4352	MPL	ORPHA:729
HP:0004417	Intermittent claudication	3717	JAK2	ORPHA:729
HP:0004417	Intermittent claudication	54790	TET2	ORPHA:729
HP:0004417	Intermittent claudication	64131	XYLT1	OMIM:264800
HP:0004417	Intermittent claudication	64132	XYLT2	OMIM:264800
HP:0004417	Intermittent claudication	368	ABCC6	OMIM:264800
HP:0004418	Thrombophlebitis	5627	PROS1	OMIM:614514
HP:0004418	Thrombophlebitis	5627	PROS1	OMIM:612336
HP:0004418	Thrombophlebitis	5624	PROC	OMIM:612304
HP:0004418	Thrombophlebitis	5624	PROC	OMIM:176860
HP:0004418	Thrombophlebitis	462	SERPINC1	ORPHA:82
HP:0004418	Thrombophlebitis	9692	PRORP	OMIM:619737
HP:0004418	Thrombophlebitis	5728	PTEN	ORPHA:744
HP:0004418	Thrombophlebitis	207	AKT1	ORPHA:744
HP:0004418	Thrombophlebitis	7042	TGFB2	OMIM:614816
HP:0004418	Thrombophlebitis	2162	F13A1	OMIM:188050
HP:0004418	Thrombophlebitis	2147	F2	OMIM:188050
HP:0004418	Thrombophlebitis	3026	HABP2	OMIM:188050
HP:0004418	Thrombophlebitis	4524	MTHFR	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	462	SERPINC1	OMIM:613118
HP:0004419	Recurrent thrombophlebitis	7042	TGFB2	OMIM:614816
HP:0004419	Recurrent thrombophlebitis	2162	F13A1	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	2147	F2	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	3026	HABP2	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	4524	MTHFR	OMIM:188050
HP:0004420	Arterial thrombosis	26191	PTPN22	ORPHA:397
HP:0004420	Arterial thrombosis	3106	HLA-B	ORPHA:397
HP:0004420	Arterial thrombosis	3106	HLA-B	ORPHA:117
HP:0004420	Arterial thrombosis	3123	HLA-DRB1	ORPHA:397
HP:0004420	Arterial thrombosis	8974	P4HA2	ORPHA:397
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:71493
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:729
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:824
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:3318
HP:0004420	Arterial thrombosis	7066	THPO	ORPHA:71493
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:71493
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:729
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:824
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:3318
HP:0004420	Arterial thrombosis	875	CBS	ORPHA:394
HP:0004420	Arterial thrombosis	54790	TET2	ORPHA:729
HP:0004420	Arterial thrombosis	54790	TET2	ORPHA:824
HP:0004420	Arterial thrombosis	54790	TET2	ORPHA:3318
HP:0004420	Arterial thrombosis	4625	MYH7	ORPHA:1880
HP:0004420	Arterial thrombosis	811	CALR	ORPHA:824
HP:0004420	Arterial thrombosis	811	CALR	ORPHA:3318
HP:0004420	Arterial thrombosis	462	SERPINC1	ORPHA:82
HP:0004420	Arterial thrombosis	9103	FCGR2C	ORPHA:3002
HP:0004420	Arterial thrombosis	2147	F2	ORPHA:325
HP:0004420	Arterial thrombosis	5627	PROS1	ORPHA:743
HP:0004420	Arterial thrombosis	5627	PROS1	OMIM:614514
HP:0004420	Arterial thrombosis	5627	PROS1	OMIM:612336
HP:0004420	Arterial thrombosis	5728	PTEN	ORPHA:744
HP:0004420	Arterial thrombosis	207	AKT1	ORPHA:744
HP:0004420	Arterial thrombosis	5277	PIGA	ORPHA:447
HP:0004420	Arterial thrombosis	10019	SH2B3	ORPHA:3318
HP:0004420	Arterial thrombosis	7157	TP53	ORPHA:3318
HP:0004420	Arterial thrombosis	149233	IL23R	ORPHA:117
HP:0004420	Arterial thrombosis	6775	STAT4	ORPHA:117
HP:0004420	Arterial thrombosis	3586	IL10	ORPHA:117
HP:0004420	Arterial thrombosis	4210	MEFV	ORPHA:117
HP:0004420	Arterial thrombosis	1230	CCR1	ORPHA:117
HP:0004420	Arterial thrombosis	355	FAS	ORPHA:117
HP:0004420	Arterial thrombosis	3592	IL12A	ORPHA:117
HP:0004420	Arterial thrombosis	101928376	IL12A-AS1	ORPHA:117
HP:0004420	Arterial thrombosis	7099	TLR4	ORPHA:117
HP:0004420	Arterial thrombosis	3459	IFNGR1	ORPHA:117
HP:0004420	Arterial thrombosis	720	C4A	ORPHA:117
HP:0004420	Arterial thrombosis	337867	UBAC2	ORPHA:117
HP:0004420	Arterial thrombosis	51752	ERAP1	ORPHA:117
HP:0004420	Arterial thrombosis	8302	KLRC4	ORPHA:117
HP:0004421	Elevated systolic blood pressure	2321	FLT1	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	219736	STOX1	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	10699	CORIN	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	554	AVPR2	OMIM:300539
HP:0004421	Elevated systolic blood pressure	4846	NOS3	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1889	ECE1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1577	CYP3A5	OMIM:145500
HP:0004421	Elevated systolic blood pressure	2784	GNB3	OMIM:145500
HP:0004421	Elevated systolic blood pressure	8490	RGS5	OMIM:145500
HP:0004421	Elevated systolic blood pressure	5740	PTGIS	OMIM:145500
HP:0004421	Elevated systolic blood pressure	118	ADD1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	481	ATP1B1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	185	AGTR1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	183	AGT	OMIM:145500
HP:0004422	Biparietal narrowing	3192	HNRNPU	ORPHA:238769
HP:0004422	Biparietal narrowing	79600	TCTN1	ORPHA:475
HP:0004422	Biparietal narrowing	79848	CSPP1	ORPHA:475
HP:0004422	Biparietal narrowing	51684	SUFU	ORPHA:475
HP:0004422	Biparietal narrowing	54806	AHI1	ORPHA:475
HP:0004422	Biparietal narrowing	54806	AHI1	ORPHA:220493
HP:0004422	Biparietal narrowing	153241	CEP120	ORPHA:475
HP:0004422	Biparietal narrowing	153241	CEP120	ORPHA:220493
HP:0004422	Biparietal narrowing	65250	CPLANE1	ORPHA:475
HP:0004422	Biparietal narrowing	65250	CPLANE1	ORPHA:2754
HP:0004422	Biparietal narrowing	91147	TMEM67	ORPHA:475
HP:0004422	Biparietal narrowing	91147	TMEM67	ORPHA:1454
HP:0004422	Biparietal narrowing	200894	ARL13B	ORPHA:475
HP:0004422	Biparietal narrowing	9731	CEP104	ORPHA:475
HP:0004422	Biparietal narrowing	219844	HYLS1	ORPHA:475
HP:0004422	Biparietal narrowing	23247	KATNIP	ORPHA:475
HP:0004422	Biparietal narrowing	219854	TMEM218	ORPHA:475
HP:0004422	Biparietal narrowing	54903	MKS1	ORPHA:475
HP:0004422	Biparietal narrowing	54903	MKS1	ORPHA:220493
HP:0004422	Biparietal narrowing	95681	CEP41	ORPHA:475
HP:0004422	Biparietal narrowing	95681	CEP41	ORPHA:220493
HP:0004422	Biparietal narrowing	9786	KIAA0586	ORPHA:475
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:475
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:1454
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:220493
HP:0004422	Biparietal narrowing	79867	TCTN2	ORPHA:475
HP:0004422	Biparietal narrowing	80776	B9D2	ORPHA:475
HP:0004422	Biparietal narrowing	10464	PIBF1	ORPHA:475
HP:0004422	Biparietal narrowing	80210	ARMC9	ORPHA:475
HP:0004422	Biparietal narrowing	23116	TOGARAM1	ORPHA:475
HP:0004422	Biparietal narrowing	25776	CBY1	ORPHA:475
HP:0004422	Biparietal narrowing	27077	B9D1	ORPHA:475
HP:0004422	Biparietal narrowing	403	ARL3	ORPHA:475
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:475
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:2318
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:220497
HP:0004422	Biparietal narrowing	6309	SC5D	ORPHA:46059
HP:0004422	Biparietal narrowing	5728	PTEN	OMIM:605309
HP:0004422	Biparietal narrowing	3265	HRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	3845	KRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	3845	KRAS	ORPHA:1340
HP:0004422	Biparietal narrowing	4893	NRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	7291	TWIST1	OMIM:123100
HP:0004422	Biparietal narrowing	9326	ZNHIT3	ORPHA:2836
HP:0004422	Biparietal narrowing	547	KIF1A	ORPHA:2836
HP:0004422	Biparietal narrowing	85378	TUBGCP6	ORPHA:2518
HP:0004422	Biparietal narrowing	27229	TUBGCP4	ORPHA:2518
HP:0004422	Biparietal narrowing	10733	PLK4	ORPHA:2518
HP:0004422	Biparietal narrowing	5604	MAP2K1	ORPHA:1340
HP:0004422	Biparietal narrowing	5605	MAP2K2	ORPHA:1340
HP:0004422	Biparietal narrowing	673	BRAF	ORPHA:1340
HP:0004422	Biparietal narrowing	7518	XRCC4	ORPHA:99812
HP:0004422	Biparietal narrowing	3981	LIG4	ORPHA:99812
HP:0004422	Biparietal narrowing	10225	CD96	ORPHA:1308
HP:0004422	Biparietal narrowing	79583	TMEM231	ORPHA:2318
HP:0004422	Biparietal narrowing	51524	TMEM138	ORPHA:2318
HP:0004422	Biparietal narrowing	23090	ZNF423	ORPHA:2318
HP:0004422	Biparietal narrowing	80184	CEP290	ORPHA:2318
HP:0004422	Biparietal narrowing	51259	TMEM216	ORPHA:2318
HP:0004422	Biparietal narrowing	51259	TMEM216	ORPHA:2754
HP:0004422	Biparietal narrowing	57545	CC2D2A	ORPHA:2318
HP:0004422	Biparietal narrowing	57545	CC2D2A	ORPHA:1454
HP:0004422	Biparietal narrowing	10210	TOPORS	ORPHA:2754
HP:0004422	Biparietal narrowing	9851	KIAA0753	ORPHA:2754
HP:0004422	Biparietal narrowing	26123	TCTN3	ORPHA:2754
HP:0004422	Biparietal narrowing	5147	PDE6D	ORPHA:2754
HP:0004422	Biparietal narrowing	8481	OFD1	ORPHA:2754
HP:0004422	Biparietal narrowing	317662	FAM149B1	ORPHA:2754
HP:0004422	Biparietal narrowing	374654	KIF7	ORPHA:2754
HP:0004422	Biparietal narrowing	2626	GATA4	ORPHA:251071
HP:0004422	Biparietal narrowing	29123	ANKRD11	ORPHA:261250
HP:0004422	Biparietal narrowing	23322	RPGRIP1L	ORPHA:220497
HP:0004422	Biparietal narrowing	23322	RPGRIP1L	ORPHA:1454
HP:0004422	Biparietal narrowing	4867	NPHP1	ORPHA:220497
HP:0004422	Biparietal narrowing	4212	MEIS2	ORPHA:261190
HP:0004422	Biparietal narrowing	8450	CUL4B	ORPHA:85293
HP:0004422	Biparietal narrowing	1717	DHCR7	ORPHA:818
HP:0004422	Biparietal narrowing	57192	MCOLN1	ORPHA:578
HP:0004423	Cranium bifidum occultum	257	ALX3	OMIM:136760
HP:0004423	Cranium bifidum occultum	257	ALX3	ORPHA:391474
HP:0004423	Cranium bifidum occultum	8092	ALX1	ORPHA:306542
HP:0004425	Flat forehead	9401	RECQL4	OMIM:218600
HP:0004425	Flat forehead	113189	CHST14	OMIM:601776
HP:0004425	Flat forehead	91949	COG7	OMIM:608779
HP:0004425	Flat forehead	11285	B4GALT7	OMIM:130070
HP:0004425	Flat forehead	818	CAMK2G	OMIM:618522
HP:0004425	Flat forehead	3590	IL11RA	OMIM:614188
HP:0004425	Flat forehead	55699	IARS2	OMIM:616007
HP:0004425	Flat forehead	7291	TWIST1	OMIM:101400
HP:0004425	Flat forehead	2263	FGFR2	OMIM:101400
HP:0004425	Flat forehead	2132	EXT2	ORPHA:466926
HP:0004425	Flat forehead	4041	LRP5	OMIM:144750
HP:0004425	Flat forehead	5293	PIK3CD	ORPHA:221139
HP:0004425	Flat forehead	90417	KNSTRN	ORPHA:221139
HP:0004425	Flat forehead	3756	KCNH1	OMIM:611816
HP:0004426	Abnormal cheek morphology	2137	EXTL3	ORPHA:508533
HP:0004426	Abnormal cheek morphology	2137	EXTL3	OMIM:617425
HP:0004426	Abnormal cheek morphology	9488	PIGB	OMIM:618580
HP:0004426	Abnormal cheek morphology	3376	IARS1	OMIM:617093
HP:0004426	Abnormal cheek morphology	3376	IARS1	ORPHA:541423
HP:0004426	Abnormal cheek morphology	6309	SC5D	ORPHA:46059
HP:0004426	Abnormal cheek morphology	91754	NEK9	OMIM:614262
HP:0004426	Abnormal cheek morphology	23135	KDM6B	OMIM:618505
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	OMIM:617137
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	OMIM:157800
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	ORPHA:1826
HP:0004426	Abnormal cheek morphology	57539	WDR35	OMIM:613610
HP:0004426	Abnormal cheek morphology	3008	H1-4	OMIM:617537
HP:0004426	Abnormal cheek morphology	85358	SHANK3	OMIM:606232
HP:0004426	Abnormal cheek morphology	85358	SHANK3	ORPHA:48652
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:94089
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:612463
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:612462
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:79443
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:79444
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:103580
HP:0004426	Abnormal cheek morphology	8675	STX16	ORPHA:94089
HP:0004426	Abnormal cheek morphology	27125	AFF4	ORPHA:444077
HP:0004426	Abnormal cheek morphology	80232	WDR26	ORPHA:513456
HP:0004426	Abnormal cheek morphology	80232	WDR26	OMIM:617616
HP:0004426	Abnormal cheek morphology	650	BMP2	ORPHA:261295
HP:0004426	Abnormal cheek morphology	9578	CDC42BPB	OMIM:619841
HP:0004426	Abnormal cheek morphology	29998	BICRA	OMIM:619325
HP:0004426	Abnormal cheek morphology	6651	SON	OMIM:617140
HP:0004426	Abnormal cheek morphology	6651	SON	ORPHA:500150
HP:0004426	Abnormal cheek morphology	51506	UFC1	OMIM:618076
HP:0004426	Abnormal cheek morphology	8882	ZPR1	OMIM:619321
HP:0004426	Abnormal cheek morphology	6492	SIM1	ORPHA:171829
HP:0004426	Abnormal cheek morphology	63916	ELMO2	ORPHA:3019
HP:0004426	Abnormal cheek morphology	1841	DTYMK	OMIM:619847
HP:0004426	Abnormal cheek morphology	4010	LMX1B	ORPHA:495818
HP:0004426	Abnormal cheek morphology	6812	STXBP1	ORPHA:495818
HP:0004426	Abnormal cheek morphology	1363	CPE	OMIM:619326
HP:0004426	Abnormal cheek morphology	55904	KMT2E	OMIM:618512
HP:0004426	Abnormal cheek morphology	4000	LMNA	OMIM:248370
HP:0004426	Abnormal cheek morphology	4952	OCRL	ORPHA:534
HP:0004426	Abnormal cheek morphology	57231	SNX14	ORPHA:397709
HP:0004426	Abnormal cheek morphology	2542	SLC37A4	ORPHA:79259
HP:0004426	Abnormal cheek morphology	65082	VPS33A	ORPHA:505248
HP:0004426	Abnormal cheek morphology	10588	MTHFS	OMIM:618367
HP:0004426	Abnormal cheek morphology	1020	CDK5	OMIM:616342
HP:0004426	Abnormal cheek morphology	9739	SETD1A	OMIM:619056
HP:0004426	Abnormal cheek morphology	3756	KCNH1	OMIM:135500
HP:0004426	Abnormal cheek morphology	3756	KCNH1	ORPHA:420561
HP:0004426	Abnormal cheek morphology	4853	NOTCH2	OMIM:102500
HP:0004426	Abnormal cheek morphology	4853	NOTCH2	ORPHA:955
HP:0004426	Abnormal cheek morphology	3423	IDS	ORPHA:217085
HP:0004426	Abnormal cheek morphology	3423	IDS	ORPHA:217093
HP:0004426	Abnormal cheek morphology	9326	ZNHIT3	ORPHA:2836
HP:0004426	Abnormal cheek morphology	9326	ZNHIT3	OMIM:260565
HP:0004426	Abnormal cheek morphology	547	KIF1A	ORPHA:2836
HP:0004426	Abnormal cheek morphology	5604	MAP2K1	ORPHA:1340
HP:0004426	Abnormal cheek morphology	5605	MAP2K2	ORPHA:1340
HP:0004426	Abnormal cheek morphology	673	BRAF	ORPHA:1340
HP:0004426	Abnormal cheek morphology	2248	FGF3	ORPHA:2791
HP:0004426	Abnormal cheek morphology	83550	GPR101	ORPHA:963
HP:0004426	Abnormal cheek morphology	9049	AIP	ORPHA:963
HP:0004426	Abnormal cheek morphology	55764	IFT122	OMIM:218330
HP:0004426	Abnormal cheek morphology	22827	PUF60	ORPHA:508488
HP:0004426	Abnormal cheek morphology	22827	PUF60	OMIM:615583
HP:0004426	Abnormal cheek morphology	538	ATP7A	ORPHA:565
HP:0004426	Abnormal cheek morphology	3265	HRAS	ORPHA:3071
HP:0004426	Abnormal cheek morphology	3265	HRAS	OMIM:218040
HP:0004426	Abnormal cheek morphology	3265	HRAS	OMIM:137550
HP:0004426	Abnormal cheek morphology	84314	TMEM107	ORPHA:564
HP:0004426	Abnormal cheek morphology	26123	TCTN3	ORPHA:564
HP:0004426	Abnormal cheek morphology	79867	TCTN2	ORPHA:564
HP:0004426	Abnormal cheek morphology	80776	B9D2	ORPHA:564
HP:0004426	Abnormal cheek morphology	79600	TCTN1	ORPHA:564
HP:0004426	Abnormal cheek morphology	57096	RPGRIP1	ORPHA:564
HP:0004426	Abnormal cheek morphology	79848	CSPP1	ORPHA:564
HP:0004426	Abnormal cheek morphology	80184	CEP290	ORPHA:564
HP:0004426	Abnormal cheek morphology	51259	TMEM216	ORPHA:564
HP:0004426	Abnormal cheek morphology	57545	CC2D2A	ORPHA:564
HP:0004426	Abnormal cheek morphology	79583	TMEM231	ORPHA:564
HP:0004426	Abnormal cheek morphology	91147	TMEM67	ORPHA:564
HP:0004426	Abnormal cheek morphology	79770	TXNDC15	ORPHA:564
HP:0004426	Abnormal cheek morphology	27077	B9D1	ORPHA:564
HP:0004426	Abnormal cheek morphology	23322	RPGRIP1L	ORPHA:564
HP:0004426	Abnormal cheek morphology	54903	MKS1	ORPHA:564
HP:0004426	Abnormal cheek morphology	65062	TMEM237	ORPHA:564
HP:0004426	Abnormal cheek morphology	171023	ASXL1	ORPHA:97297
HP:0004426	Abnormal cheek morphology	3977	LIFR	OMIM:601559
HP:0004426	Abnormal cheek morphology	5813	PURA	ORPHA:438216
HP:0004426	Abnormal cheek morphology	4338	MOCS2	OMIM:252160
HP:0004426	Abnormal cheek morphology	2783	GNB2	OMIM:619503
HP:0004426	Abnormal cheek morphology	79633	FAT4	OMIM:615546
HP:0004426	Abnormal cheek morphology	5723	PSPH	ORPHA:79350
HP:0004426	Abnormal cheek morphology	3425	IDUA	OMIM:607014
HP:0004426	Abnormal cheek morphology	3425	IDUA	OMIM:607016
HP:0004426	Abnormal cheek morphology	3425	IDUA	ORPHA:93473
HP:0004426	Abnormal cheek morphology	9244	CRLF1	OMIM:272430
HP:0004426	Abnormal cheek morphology	9244	CRLF1	ORPHA:1545
HP:0004426	Abnormal cheek morphology	55975	KLHL7	OMIM:617055
HP:0004426	Abnormal cheek morphology	57498	KIDINS220	OMIM:617296
HP:0004426	Abnormal cheek morphology	1182	CLCN3	OMIM:619512
HP:0004426	Abnormal cheek morphology	2200	FBN1	OMIM:614185
HP:0004426	Abnormal cheek morphology	6711	SPTBN1	OMIM:619475
HP:0004426	Abnormal cheek morphology	4337	MOCS1	OMIM:252150
HP:0004426	Abnormal cheek morphology	5290	PIK3CA	ORPHA:60040
HP:0004426	Abnormal cheek morphology	51520	LARS1	OMIM:615438
HP:0004426	Abnormal cheek morphology	9091	PIGQ	OMIM:618548
HP:0004426	Abnormal cheek morphology	1836	SLC26A2	ORPHA:628
HP:0004426	Abnormal cheek morphology	6925	TCF4	ORPHA:2896
HP:0004426	Abnormal cheek morphology	6925	TCF4	OMIM:610954
HP:0004426	Abnormal cheek morphology	388015	RTL1	ORPHA:96184
HP:0004426	Abnormal cheek morphology	8788	DLK1	ORPHA:96184
HP:0004426	Abnormal cheek morphology	55384	MEG3	ORPHA:96184
HP:0004426	Abnormal cheek morphology	55027	HEATR3	OMIM:620072
HP:0004426	Abnormal cheek morphology	79718	TBL1XR1	OMIM:602342
HP:0004426	Abnormal cheek morphology	6452	SH3BP2	ORPHA:184
HP:0004426	Abnormal cheek morphology	4893	NRAS	OMIM:137550
HP:0004426	Abnormal cheek morphology	23556	PIGN	ORPHA:280633
HP:0004426	Abnormal cheek morphology	285590	SH3PXD2B	OMIM:249420
HP:0004426	Abnormal cheek morphology	51124	IER3IP1	OMIM:614231
HP:0004426	Abnormal cheek morphology	23067	SETD1B	OMIM:619000
HP:0004426	Abnormal cheek morphology	51098	IFT52	OMIM:617102
HP:0004426	Abnormal cheek morphology	3832	KIF11	ORPHA:2526
HP:0004426	Abnormal cheek morphology	55704	CCDC88A	OMIM:617507
HP:0004426	Abnormal cheek morphology	6901	TAFAZZIN	OMIM:302060
HP:0004426	Abnormal cheek morphology	84919	PPP1R15B	OMIM:616817
HP:0004426	Abnormal cheek morphology	84919	PPP1R15B	ORPHA:391408
HP:0004426	Abnormal cheek morphology	93587	TRMT10A	ORPHA:391408
HP:0004426	Abnormal cheek morphology	51085	MLXIPL	OMIM:194050
HP:0004426	Abnormal cheek morphology	2006	ELN	OMIM:194050
HP:0004426	Abnormal cheek morphology	51322	WAC	ORPHA:284169
HP:0004426	Abnormal cheek morphology	51322	WAC	OMIM:616708
HP:0004426	Abnormal cheek morphology	7030	TFE3	OMIM:301066
HP:0004426	Abnormal cheek morphology	9895	TECPR2	ORPHA:320385
HP:0004426	Abnormal cheek morphology	23162	MAPK8IP3	OMIM:618443
HP:0004426	Abnormal cheek morphology	7355	SLC35A2	OMIM:300896
HP:0004426	Abnormal cheek morphology	259232	NALCN	OMIM:616266
HP:0004426	Abnormal cheek morphology	23483	TGDS	OMIM:616145
HP:0004426	Abnormal cheek morphology	23483	TGDS	ORPHA:1388
HP:0004426	Abnormal cheek morphology	8565	YARS1	OMIM:619418
HP:0004426	Abnormal cheek morphology	5116	PCNT	ORPHA:2637
HP:0004426	Abnormal cheek morphology	1968	EIF2S3	ORPHA:85282
HP:0004426	Abnormal cheek morphology	9757	KMT2B	OMIM:619934
HP:0004426	Abnormal cheek morphology	3339	HSPG2	OMIM:255800
HP:0004426	Abnormal cheek morphology	3339	HSPG2	ORPHA:800
HP:0004426	Abnormal cheek morphology	8813	DPM1	ORPHA:79322
HP:0004426	Abnormal cheek morphology	71	ACTG1	ORPHA:2995
HP:0004426	Abnormal cheek morphology	60	ACTB	ORPHA:2995
HP:0004426	Abnormal cheek morphology	23529	CLCF1	ORPHA:1545
HP:0004426	Abnormal cheek morphology	178	AGL	ORPHA:366
HP:0004426	Abnormal cheek morphology	1387	CREBBP	OMIM:618332
HP:0004426	Abnormal cheek morphology	2033	EP300	OMIM:618333
HP:0004426	Abnormal cheek morphology	1917	EEF1A2	OMIM:616393
HP:0004426	Abnormal cheek morphology	9742	IFT140	OMIM:266920
HP:0004426	Abnormal cheek morphology	1806	DPYD	ORPHA:293948
HP:0004426	Abnormal cheek morphology	26173	INTS1	OMIM:618571
HP:0004426	Abnormal cheek morphology	57728	WDR19	OMIM:614378
HP:0004426	Abnormal cheek morphology	57728	WDR19	OMIM:614376
HP:0004426	Abnormal cheek morphology	55315	SLC29A3	ORPHA:168569
HP:0004426	Abnormal cheek morphology	1642	DDB1	OMIM:619426
HP:0004426	Abnormal cheek morphology	6664	SOX11	OMIM:615866
HP:0004426	Abnormal cheek morphology	27445	PCLO	OMIM:608027
HP:0004426	Abnormal cheek morphology	6905	TBCE	ORPHA:93324
HP:0004426	Abnormal cheek morphology	4054	LTBP3	OMIM:617809
HP:0004426	Abnormal cheek morphology	10262	SF3B4	OMIM:154400
HP:0004426	Abnormal cheek morphology	8367	H4C5	OMIM:619950
HP:0004426	Abnormal cheek morphology	8294	H4C9	OMIM:619951
HP:0004426	Abnormal cheek morphology	2138	EYA1	OMIM:113650
HP:0004426	Abnormal cheek morphology	2138	EYA1	ORPHA:107
HP:0004426	Abnormal cheek morphology	2138	EYA1	ORPHA:52429
HP:0004426	Abnormal cheek morphology	6495	SIX1	OMIM:113650
HP:0004426	Abnormal cheek morphology	6495	SIX1	ORPHA:107
HP:0004426	Abnormal cheek morphology	6495	SIX1	ORPHA:52429
HP:0004426	Abnormal cheek morphology	6495	SIX1	OMIM:608389
HP:0004426	Abnormal cheek morphology	2132	EXT2	OMIM:616682
HP:0004426	Abnormal cheek morphology	2335	FN1	ORPHA:93315
HP:0004426	Abnormal cheek morphology	1280	COL2A1	ORPHA:93315
HP:0004426	Abnormal cheek morphology	2972	BRF1	OMIM:616202
HP:0004426	Abnormal cheek morphology	145173	B3GLCT	ORPHA:709
HP:0004426	Abnormal cheek morphology	10992	SF3B2	OMIM:164210
HP:0004426	Abnormal cheek morphology	6299	SALL1	OMIM:107480
HP:0004426	Abnormal cheek morphology	6299	SALL1	ORPHA:857
HP:0004426	Abnormal cheek morphology	374654	KIF7	OMIM:200990
HP:0004426	Abnormal cheek morphology	89910	UBE3B	OMIM:244450
HP:0004426	Abnormal cheek morphology	89910	UBE3B	ORPHA:2707
HP:0004426	Abnormal cheek morphology	8085	KMT2D	ORPHA:2322
HP:0004426	Abnormal cheek morphology	7403	KDM6A	ORPHA:2322
HP:0004426	Abnormal cheek morphology	4953	ODC1	ORPHA:544488
HP:0004426	Abnormal cheek morphology	55636	CHD7	ORPHA:138
HP:0004426	Abnormal cheek morphology	9723	SEMA3E	ORPHA:138
HP:0004426	Abnormal cheek morphology	10735	STAG2	OMIM:301022
HP:0004426	Abnormal cheek morphology	57492	ARID1B	OMIM:135900
HP:0004426	Abnormal cheek morphology	54496	PRMT7	OMIM:617157
HP:0004426	Abnormal cheek morphology	54496	PRMT7	ORPHA:464288
HP:0004426	Abnormal cheek morphology	10265	IRX5	OMIM:611174
HP:0004426	Abnormal cheek morphology	2260	FGFR1	OMIM:190440
HP:0004426	Abnormal cheek morphology	23389	MED13L	ORPHA:369891
HP:0004426	Abnormal cheek morphology	8260	NAA10	ORPHA:568
HP:0004426	Abnormal cheek morphology	54880	BCOR	ORPHA:568
HP:0004426	Abnormal cheek morphology	10943	MSL3	OMIM:301032
HP:0004426	Abnormal cheek morphology	1501	CTNND2	ORPHA:281
HP:0004426	Abnormal cheek morphology	9037	SEMA5A	ORPHA:281
HP:0004426	Abnormal cheek morphology	4041	LRP5	ORPHA:2788
HP:0004426	Abnormal cheek morphology	51729	WBP11	OMIM:619227
HP:0004426	Abnormal cheek morphology	147912	SIX5	OMIM:610896
HP:0004426	Abnormal cheek morphology	147912	SIX5	ORPHA:107
HP:0004426	Abnormal cheek morphology	1906	EDN1	ORPHA:137888
HP:0004426	Abnormal cheek morphology	5332	PLCB4	ORPHA:137888
HP:0004426	Abnormal cheek morphology	2773	GNAI3	ORPHA:137888
HP:0004426	Abnormal cheek morphology	2773	GNAI3	OMIM:602483
HP:0004426	Abnormal cheek morphology	6638	SNRPN	ORPHA:177907
HP:0004426	Abnormal cheek morphology	53834	FGFRL1	OMIM:194190
HP:0004426	Abnormal cheek morphology	1487	CTBP1	OMIM:194190
HP:0004426	Abnormal cheek morphology	3954	LETM1	OMIM:194190
HP:0004426	Abnormal cheek morphology	7468	NSD2	OMIM:194190
HP:0004426	Abnormal cheek morphology	10815	CPLX1	OMIM:194190
HP:0004426	Abnormal cheek morphology	9343	EFTUD2	OMIM:610536
HP:0004426	Abnormal cheek morphology	9343	EFTUD2	ORPHA:79113
HP:0004426	Abnormal cheek morphology	57167	SALL4	ORPHA:233
HP:0004426	Abnormal cheek morphology	9935	MAFB	ORPHA:233
HP:0004426	Abnormal cheek morphology	1123	CHN1	ORPHA:233
HP:0004426	Abnormal cheek morphology	3192	HNRNPU	ORPHA:238769
HP:0004426	Abnormal cheek morphology	157680	VPS13B	ORPHA:193
HP:0004426	Abnormal cheek morphology	8092	ALX1	ORPHA:306542
HP:0004426	Abnormal cheek morphology	94005	PIGS	OMIM:618143
HP:0004426	Abnormal cheek morphology	1909	EDNRA	OMIM:616367
HP:0004426	Abnormal cheek morphology	8364	H4C3	OMIM:619758
HP:0004426	Abnormal cheek morphology	10907	TXNL4A	OMIM:608572
HP:0004426	Abnormal cheek morphology	79759	ZNF668	OMIM:620194
HP:0004426	Abnormal cheek morphology	84172	POLR1B	ORPHA:861
HP:0004426	Abnormal cheek morphology	9533	POLR1C	ORPHA:861
HP:0004426	Abnormal cheek morphology	51082	POLR1D	ORPHA:861
HP:0004426	Abnormal cheek morphology	6949	TCOF1	ORPHA:861
HP:0004426	Abnormal cheek morphology	6949	TCOF1	OMIM:154500
HP:0004426	Abnormal cheek morphology	55617	TASP1	OMIM:618950
HP:0004426	Abnormal cheek morphology	29123	ANKRD11	ORPHA:261250
HP:0004426	Abnormal cheek morphology	79971	WLS	OMIM:619648
HP:0004426	Abnormal cheek morphology	51339	DACT1	ORPHA:857
HP:0004426	Abnormal cheek morphology	54916	TMEM260	OMIM:617478
HP:0004426	Abnormal cheek morphology	374969	SVBP	OMIM:618569
HP:0004426	Abnormal cheek morphology	2317	FLNB	OMIM:272460
HP:0004426	Abnormal cheek morphology	9897	WASHC5	ORPHA:7
HP:0004426	Abnormal cheek morphology	28952	CCDC22	ORPHA:7
HP:0004426	Abnormal cheek morphology	257	ALX3	OMIM:136760
HP:0004426	Abnormal cheek morphology	257	ALX3	ORPHA:391474
HP:0004426	Abnormal cheek morphology	6595	SMARCA2	OMIM:601358
HP:0004426	Abnormal cheek morphology	3845	KRAS	OMIM:600268
HP:0004426	Abnormal cheek morphology	2719	GPC3	OMIM:312870
HP:0004426	Abnormal cheek morphology	2239	GPC4	OMIM:312870
HP:0004426	Abnormal cheek morphology	23545	ATP6V0A2	ORPHA:2834
HP:0004426	Abnormal cheek morphology	30008	EFEMP2	ORPHA:90349
HP:0004426	Abnormal cheek morphology	10516	FBLN5	ORPHA:90349
HP:0004426	Abnormal cheek morphology	23522	KAT6B	ORPHA:3047
HP:0004426	Abnormal cheek morphology	6850	SYK	OMIM:619381
HP:0004426	Abnormal cheek morphology	3098	HK1	OMIM:618547
HP:0004426	Abnormal cheek morphology	80036	TRPM3	OMIM:620224
HP:0004426	Abnormal cheek morphology	286	ANK1	ORPHA:251066
HP:0004426	Abnormal cheek morphology	145258	GSC	OMIM:602471
HP:0004426	Abnormal cheek morphology	2702	GJA5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	1482	NKX2-5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	1482	NKX2-5	OMIM:187500
HP:0004426	Abnormal cheek morphology	137814	NKX2-6	ORPHA:3303
HP:0004426	Abnormal cheek morphology	23414	ZFPM2	ORPHA:3303
HP:0004426	Abnormal cheek morphology	23414	ZFPM2	OMIM:187500
HP:0004426	Abnormal cheek morphology	2626	GATA4	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2626	GATA4	OMIM:187500
HP:0004426	Abnormal cheek morphology	3791	KDR	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2627	GATA6	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2627	GATA6	OMIM:187500
HP:0004426	Abnormal cheek morphology	2657	GDF1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	182	JAG1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	182	JAG1	OMIM:187500
HP:0004426	Abnormal cheek morphology	6899	TBX1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	6899	TBX1	OMIM:187500
HP:0004426	Abnormal cheek morphology	140628	GATA5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2324	FLT4	ORPHA:3303
HP:0004426	Abnormal cheek morphology	10370	CITED2	ORPHA:3303
HP:0004426	Abnormal cheek morphology	3190	HNRNPK	ORPHA:453504
HP:0004426	Abnormal cheek morphology	3190	HNRNPK	ORPHA:352665
HP:0004426	Abnormal cheek morphology	23405	DICER1	OMIM:618272
HP:0004426	Abnormal cheek morphology	51715	RAB23	OMIM:201000
HP:0004426	Abnormal cheek morphology	27031	NPHP3	OMIM:208540
HP:0004426	Abnormal cheek morphology	5075	PAX1	OMIM:615560
HP:0004426	Abnormal cheek morphology	5075	PAX1	ORPHA:2792
HP:0004426	Abnormal cheek morphology	2263	FGFR2	OMIM:123790
HP:0004426	Abnormal cheek morphology	5500	PPP1CB	OMIM:617506
HP:0004426	Abnormal cheek morphology	4286	MITF	OMIM:617306
HP:0004426	Abnormal cheek morphology	23384	SPECC1L	ORPHA:1519
HP:0004426	Abnormal cheek morphology	23384	SPECC1L	OMIM:145420
HP:0004426	Abnormal cheek morphology	9968	MED12	OMIM:301068
HP:0004426	Abnormal cheek morphology	2316	FLNA	ORPHA:88630
HP:0004426	Abnormal cheek morphology	7994	KAT6A	ORPHA:457193
HP:0004426	Abnormal cheek morphology	3759	KCNJ2	OMIM:170390
HP:0004426	Abnormal cheek morphology	9451	EIF2AK3	OMIM:226980
HP:0004426	Abnormal cheek morphology	4281	MID1	ORPHA:2745
HP:0004426	Abnormal cheek morphology	7319	UBE2A	ORPHA:163956
HP:0004426	Abnormal cheek morphology	64132	XYLT2	ORPHA:85194
HP:0004426	Abnormal cheek morphology	58499	ZNF462	OMIM:618619
HP:0004426	Abnormal cheek morphology	7020	TFAP2A	OMIM:113620
HP:0004426	Abnormal cheek morphology	7020	TFAP2A	ORPHA:1297
HP:0004426	Abnormal cheek morphology	4035	LRP1	OMIM:604093
HP:0004426	Abnormal cheek morphology	857	CAV1	OMIM:606721
HP:0004426	Abnormal cheek morphology	10382	TUBB4A	ORPHA:98805
HP:0004426	Abnormal cheek morphology	10382	TUBB4A	OMIM:128101
HP:0004426	Abnormal cheek morphology	55768	NGLY1	OMIM:615273
HP:0004426	Abnormal cheek morphology	165	AEBP1	ORPHA:536532
HP:0004426	Abnormal cheek morphology	5702	PSMC3	OMIM:619354
HP:0004426	Abnormal cheek morphology	5831	PYCR1	OMIM:612940
HP:0004426	Abnormal cheek morphology	4052	LTBP1	OMIM:619451
HP:0004426	Abnormal cheek morphology	26053	AUTS2	ORPHA:352490
HP:0004426	Abnormal cheek morphology	340665	CYP26C1	ORPHA:398189
HP:0004428	Elfin facies	6804	STX1A	ORPHA:904
HP:0004428	Elfin facies	7461	CLIP2	ORPHA:904
HP:0004428	Elfin facies	84277	DNAJC30	ORPHA:904
HP:0004428	Elfin facies	8468	FKBP6	ORPHA:904
HP:0004428	Elfin facies	5982	RFC2	ORPHA:904
HP:0004428	Elfin facies	2969	GTF2I	ORPHA:904
HP:0004428	Elfin facies	3984	LIMK1	ORPHA:904
HP:0004428	Elfin facies	9569	GTF2IRD1	ORPHA:904
HP:0004428	Elfin facies	155382	VPS37D	ORPHA:904
HP:0004428	Elfin facies	155368	METTL27	ORPHA:904
HP:0004428	Elfin facies	114049	BUD23	ORPHA:904
HP:0004428	Elfin facies	7458	EIF4H	ORPHA:904
HP:0004428	Elfin facies	84163	GTF2IRD2	ORPHA:904
HP:0004428	Elfin facies	9275	BCL7B	ORPHA:904
HP:0004428	Elfin facies	26608	TBL2	ORPHA:904
HP:0004428	Elfin facies	653361	NCF1	ORPHA:904
HP:0004428	Elfin facies	135886	TMEM270	ORPHA:904
HP:0004428	Elfin facies	51085	MLXIPL	ORPHA:904
HP:0004428	Elfin facies	9031	BAZ1B	ORPHA:904
HP:0004428	Elfin facies	2006	ELN	ORPHA:904
HP:0004428	Elfin facies	341208	HEPHL1	OMIM:261990
HP:0004428	Elfin facies	2193	FARSA	OMIM:619013
HP:0004428	Elfin facies	3643	INSR	OMIM:246200
HP:0004430	Severe combined immunodeficiency	2137	EXTL3	ORPHA:508533
HP:0004430	Severe combined immunodeficiency	2137	EXTL3	OMIM:617425
HP:0004430	Severe combined immunodeficiency	5896	RAG1	ORPHA:231154
HP:0004430	Severe combined immunodeficiency	5896	RAG1	OMIM:601457
HP:0004430	Severe combined immunodeficiency	5896	RAG1	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	4860	PNP	ORPHA:760
HP:0004430	Severe combined immunodeficiency	5897	RAG2	OMIM:601457
HP:0004430	Severe combined immunodeficiency	5897	RAG2	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	4522	MTHFD1	OMIM:617780
HP:0004430	Severe combined immunodeficiency	3718	JAK3	OMIM:600802
HP:0004430	Severe combined immunodeficiency	57217	TTC7A	OMIM:243150
HP:0004430	Severe combined immunodeficiency	57217	TTC7A	ORPHA:436252
HP:0004430	Severe combined immunodeficiency	3561	IL2RG	OMIM:300400
HP:0004430	Severe combined immunodeficiency	3561	IL2RG	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	100	ADA	OMIM:102700
HP:0004430	Severe combined immunodeficiency	100	ADA	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64919	BCL11B	OMIM:617237
HP:0004430	Severe combined immunodeficiency	5591	PRKDC	OMIM:615966
HP:0004430	Severe combined immunodeficiency	5238	PGM3	ORPHA:443811
HP:0004430	Severe combined immunodeficiency	5297	PI4KA	ORPHA:436252
HP:0004430	Severe combined immunodeficiency	7518	XRCC4	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	3981	LIG4	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	3981	LIG4	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	6023	RMRP	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	55636	CHD7	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C	OMIM:602450
HP:0004430	Severe combined immunodeficiency	3575	IL7R	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	3575	IL7R	OMIM:608971
HP:0004430	Severe combined immunodeficiency	915	CD3D	OMIM:615617
HP:0004430	Severe combined immunodeficiency	204	AK2	ORPHA:33355
HP:0004431	Complement deficiency	9056	SLC7A7	ORPHA:470
HP:0004431	Complement deficiency	10747	MASP2	OMIM:613791
HP:0004431	Complement deficiency	1776	DNASE1L3	ORPHA:36412
HP:0004431	Complement deficiency	2584	GALK1	ORPHA:79237
HP:0004431	Complement deficiency	732	C8B	OMIM:613789
HP:0004431	Complement deficiency	731	C8A	OMIM:613790
HP:0004431	Complement deficiency	712	C1QA	OMIM:613652
HP:0004431	Complement deficiency	3075	CFH	OMIM:609814
HP:0004431	Complement deficiency	3075	CFH	OMIM:235400
HP:0004431	Complement deficiency	3426	CFI	OMIM:610984
HP:0004431	Complement deficiency	3078	CFHR1	OMIM:235400
HP:0004431	Complement deficiency	10878	CFHR3	OMIM:235400
HP:0004431	Complement deficiency	629	CFB	OMIM:615561
HP:0004431	Complement deficiency	84823	LMNB2	OMIM:608709
HP:0004431	Complement deficiency	84823	LMNB2	ORPHA:79087
HP:0004431	Complement deficiency	55690	PACS1	ORPHA:329224
HP:0004431	Complement deficiency	5580	PRKCD	OMIM:615559
HP:0004431	Complement deficiency	4179	CD46	OMIM:612922
HP:0004431	Complement deficiency	6775	STAT4	ORPHA:93552
HP:0004431	Complement deficiency	6696	SPP1	ORPHA:93552
HP:0004431	Complement deficiency	3654	IRAK1	ORPHA:93552
HP:0004431	Complement deficiency	718	C3	OMIM:613779
HP:0004431	Complement deficiency	718	C3	OMIM:612925
HP:0004431	Complement deficiency	7056	THBD	OMIM:612926
HP:0004431	Complement deficiency	51284	TLR7	OMIM:301080
HP:0004431	Complement deficiency	1675	CFD	OMIM:613912
HP:0004431	Complement deficiency	735	C9	OMIM:613825
HP:0004431	Complement deficiency	730	C7	OMIM:610102
HP:0004431	Complement deficiency	729	C6	OMIM:612446
HP:0004431	Complement deficiency	727	C5	OMIM:609536
HP:0004431	Complement deficiency	720	C4A	OMIM:614380
HP:0004431	Complement deficiency	710	SERPING1	OMIM:106100
HP:0004431	Complement deficiency	721	C4B	OMIM:614379
HP:0004433	Secretory IgA deficiency	6651	SON	ORPHA:500150
HP:0004434	Decreased circulating complement C8 concentration	732	C8B	OMIM:613789
HP:0004434	Decreased circulating complement C8 concentration	731	C8A	OMIM:613790
HP:0004438	Hyperostosis frontalis interna	7840	ALMS1	ORPHA:64
HP:0004438	Hyperostosis frontalis interna	7840	ALMS1	OMIM:203800
HP:0004438	Hyperostosis frontalis interna	2778	GNAS	ORPHA:79443
HP:0004439	Craniofacial dysostosis	2263	FGFR2	OMIM:123500
HP:0004439	Craniofacial dysostosis	3590	IL11RA	OMIM:614188
HP:0004439	Craniofacial dysostosis	9533	POLR1C	OMIM:248390
HP:0004439	Craniofacial dysostosis	1909	EDNRA	OMIM:616367
HP:0004439	Craniofacial dysostosis	6231	RPS26	OMIM:613309
HP:0004439	Craniofacial dysostosis	9343	EFTUD2	OMIM:610536
HP:0004439	Craniofacial dysostosis	5573	PRKAR1A	ORPHA:280651
HP:0004439	Craniofacial dysostosis	5144	PDE4D	ORPHA:280651
HP:0004439	Craniofacial dysostosis	29957	SLC25A24	ORPHA:2095
HP:0004439	Craniofacial dysostosis	4488	MSX2	ORPHA:60015
HP:0004439	Craniofacial dysostosis	60529	ALX4	ORPHA:60015
HP:0004442	Sagittal craniosynostosis	2077	ERF	OMIM:600775
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	OMIM:616580
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0004442	Sagittal craniosynostosis	5977	DPF2	OMIM:618027
HP:0004442	Sagittal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004442	Sagittal craniosynostosis	6651	SON	ORPHA:500150
HP:0004442	Sagittal craniosynostosis	6938	TCF12	OMIM:615314
HP:0004442	Sagittal craniosynostosis	7291	TWIST1	OMIM:123100
HP:0004442	Sagittal craniosynostosis	1801	DPH1	OMIM:616901
HP:0004442	Sagittal craniosynostosis	1801	DPH1	ORPHA:459061
HP:0004442	Sagittal craniosynostosis	1788	DNMT3A	OMIM:615879
HP:0004442	Sagittal craniosynostosis	3845	KRAS	OMIM:609942
HP:0004442	Sagittal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004442	Sagittal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004442	Sagittal craniosynostosis	526	ATP6V1B2	ORPHA:79500
HP:0004442	Sagittal craniosynostosis	57465	TBC1D24	ORPHA:79500
HP:0004442	Sagittal craniosynostosis	55764	IFT122	OMIM:218330
HP:0004442	Sagittal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004442	Sagittal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004442	Sagittal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004442	Sagittal craniosynostosis	8318	CDC45	OMIM:617063
HP:0004442	Sagittal craniosynostosis	112752	IFT43	OMIM:614099
HP:0004442	Sagittal craniosynostosis	57728	WDR19	OMIM:614378
HP:0004442	Sagittal craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0004442	Sagittal craniosynostosis	169792	GLIS3	OMIM:610199
HP:0004443	Lambdoidal craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0004443	Lambdoidal craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0004443	Lambdoidal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004443	Lambdoidal craniosynostosis	2077	ERF	OMIM:600775
HP:0004443	Lambdoidal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004443	Lambdoidal craniosynostosis	652	BMP4	OMIM:607932
HP:0004443	Lambdoidal craniosynostosis	9871	SEC24D	OMIM:616294
HP:0004443	Lambdoidal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004443	Lambdoidal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004443	Lambdoidal craniosynostosis	51604	PIGT	OMIM:615398
HP:0004443	Lambdoidal craniosynostosis	7545	ZIC1	OMIM:618736
HP:0004443	Lambdoidal craniosynostosis	5648	MASP1	OMIM:257920
HP:0004443	Lambdoidal craniosynostosis	5447	POR	OMIM:207410
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:207410
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:101400
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004443	Lambdoidal craniosynostosis	7291	TWIST1	OMIM:101400
HP:0004443	Lambdoidal craniosynostosis	5881	RAC3	OMIM:618577
HP:0004443	Lambdoidal craniosynostosis	3845	KRAS	OMIM:609942
HP:0004444	Spherocytosis	6710	SPTB	OMIM:616649
HP:0004444	Spherocytosis	6710	SPTB	ORPHA:822
HP:0004444	Spherocytosis	6521	SLC4A1	OMIM:612653
HP:0004444	Spherocytosis	6521	SLC4A1	ORPHA:822
HP:0004444	Spherocytosis	286	ANK1	ORPHA:251066
HP:0004444	Spherocytosis	286	ANK1	OMIM:182900
HP:0004444	Spherocytosis	286	ANK1	ORPHA:822
HP:0004444	Spherocytosis	2038	EPB42	OMIM:612690
HP:0004444	Spherocytosis	2038	EPB42	ORPHA:822
HP:0004444	Spherocytosis	6005	RHAG	ORPHA:71275
HP:0004444	Spherocytosis	6006	RHCE	ORPHA:71275
HP:0004444	Spherocytosis	6007	RHD	ORPHA:71275
HP:0004444	Spherocytosis	6708	SPTA1	ORPHA:822
HP:0004444	Spherocytosis	6708	SPTA1	OMIM:270970
HP:0004445	Elliptocytosis	2035	EPB41	ORPHA:288
HP:0004445	Elliptocytosis	2035	EPB41	OMIM:611804
HP:0004445	Elliptocytosis	2995	GYPC	ORPHA:288
HP:0004445	Elliptocytosis	6710	SPTB	ORPHA:288
HP:0004445	Elliptocytosis	6710	SPTB	OMIM:617948
HP:0004445	Elliptocytosis	6708	SPTA1	ORPHA:288
HP:0004445	Elliptocytosis	6708	SPTA1	OMIM:266140
HP:0004445	Elliptocytosis	6708	SPTA1	OMIM:130600
HP:0004445	Elliptocytosis	9949	AMMECR1	OMIM:300990
HP:0004445	Elliptocytosis	9949	AMMECR1	ORPHA:86818
HP:0004445	Elliptocytosis	23630	KCNE5	ORPHA:86818
HP:0004445	Elliptocytosis	2182	ACSL4	ORPHA:86818
HP:0004445	Elliptocytosis	374354	NHLRC2	OMIM:618278
HP:0004445	Elliptocytosis	2623	GATA1	OMIM:300835
HP:0004445	Elliptocytosis	51095	TRNT1	OMIM:616959
HP:0004445	Elliptocytosis	760	CA2	ORPHA:2785
HP:0004445	Elliptocytosis	6521	SLC4A1	OMIM:166900
HP:0004446	Stomatocytosis	2035	EPB41	ORPHA:288
HP:0004446	Stomatocytosis	2995	GYPC	ORPHA:288
HP:0004446	Stomatocytosis	6710	SPTB	ORPHA:288
HP:0004446	Stomatocytosis	6708	SPTA1	ORPHA:288
HP:0004446	Stomatocytosis	6005	RHAG	OMIM:185000
HP:0004446	Stomatocytosis	6005	RHAG	OMIM:268150
HP:0004446	Stomatocytosis	6005	RHAG	ORPHA:3203
HP:0004446	Stomatocytosis	6005	RHAG	ORPHA:71275
HP:0004446	Stomatocytosis	2811	GP1BA	OMIM:153670
HP:0004446	Stomatocytosis	6513	SLC2A1	OMIM:608885
HP:0004446	Stomatocytosis	6513	SLC2A1	ORPHA:168577
HP:0004446	Stomatocytosis	2623	GATA1	OMIM:301083
HP:0004446	Stomatocytosis	6521	SLC4A1	OMIM:185020
HP:0004446	Stomatocytosis	10058	ABCB6	ORPHA:90044
HP:0004446	Stomatocytosis	6006	RHCE	ORPHA:71275
HP:0004446	Stomatocytosis	6007	RHD	ORPHA:71275
HP:0004446	Stomatocytosis	64241	ABCG8	OMIM:210250
HP:0004447	Poikilocytosis	126410	CYP4F22	OMIM:604777
HP:0004447	Poikilocytosis	4547	MTTP	ORPHA:14
HP:0004447	Poikilocytosis	4547	MTTP	OMIM:200100
HP:0004447	Poikilocytosis	7504	XK	OMIM:300842
HP:0004447	Poikilocytosis	23230	VPS13A	OMIM:200150
HP:0004447	Poikilocytosis	23230	VPS13A	ORPHA:2388
HP:0004447	Poikilocytosis	1861	TOR1A	OMIM:618947
HP:0004447	Poikilocytosis	338	APOB	OMIM:615558
HP:0004447	Poikilocytosis	51128	SAR1B	ORPHA:71
HP:0004447	Poikilocytosis	80025	PANK2	OMIM:607236
HP:0004447	Poikilocytosis	80025	PANK2	OMIM:234200
HP:0004447	Poikilocytosis	10661	KLF1	OMIM:613673
HP:0004447	Poikilocytosis	790	CAD	OMIM:616457
HP:0004447	Poikilocytosis	6573	SLC19A1	OMIM:601775
HP:0004447	Poikilocytosis	11093	ADAMTS13	OMIM:274150
HP:0004447	Poikilocytosis	9780	PIEZO1	ORPHA:3202
HP:0004447	Poikilocytosis	3783	KCNN4	ORPHA:3202
HP:0004447	Poikilocytosis	3075	CFH	OMIM:235400
HP:0004447	Poikilocytosis	3078	CFHR1	OMIM:235400
HP:0004447	Poikilocytosis	10878	CFHR3	OMIM:235400
HP:0004447	Poikilocytosis	146059	CDAN1	OMIM:224120
HP:0004447	Poikilocytosis	6309	SC5D	OMIM:607330
HP:0004447	Poikilocytosis	286	ANK1	ORPHA:251066
HP:0004447	Poikilocytosis	286	ANK1	OMIM:182900
HP:0004447	Poikilocytosis	286	ANK1	ORPHA:822
HP:0004447	Poikilocytosis	2038	EPB42	OMIM:612690
HP:0004447	Poikilocytosis	2038	EPB42	ORPHA:822
HP:0004447	Poikilocytosis	9949	AMMECR1	OMIM:300990
HP:0004447	Poikilocytosis	9949	AMMECR1	ORPHA:86818
HP:0004447	Poikilocytosis	23630	KCNE5	ORPHA:86818
HP:0004447	Poikilocytosis	2182	ACSL4	ORPHA:86818
HP:0004447	Poikilocytosis	374354	NHLRC2	OMIM:618278
HP:0004447	Poikilocytosis	51095	TRNT1	OMIM:616959
HP:0004447	Poikilocytosis	760	CA2	ORPHA:2785
HP:0004447	Poikilocytosis	2035	EPB41	ORPHA:288
HP:0004447	Poikilocytosis	2995	GYPC	ORPHA:288
HP:0004447	Poikilocytosis	6710	SPTB	ORPHA:288
HP:0004447	Poikilocytosis	6708	SPTA1	ORPHA:288
HP:0004447	Poikilocytosis	6005	RHAG	OMIM:185000
HP:0004447	Poikilocytosis	6005	RHAG	OMIM:268150
HP:0004447	Poikilocytosis	6005	RHAG	ORPHA:3203
HP:0004447	Poikilocytosis	6005	RHAG	ORPHA:71275
HP:0004447	Poikilocytosis	2811	GP1BA	OMIM:153670
HP:0004447	Poikilocytosis	6513	SLC2A1	OMIM:608885
HP:0004447	Poikilocytosis	6513	SLC2A1	ORPHA:168577
HP:0004447	Poikilocytosis	2623	GATA1	OMIM:301083
HP:0004447	Poikilocytosis	6521	SLC4A1	OMIM:185020
HP:0004447	Poikilocytosis	10058	ABCB6	ORPHA:90044
HP:0004447	Poikilocytosis	6006	RHCE	ORPHA:71275
HP:0004447	Poikilocytosis	6007	RHD	ORPHA:71275
HP:0004447	Poikilocytosis	64241	ABCG8	OMIM:210250
HP:0004447	Poikilocytosis	9493	KIF23	ORPHA:98870
HP:0004447	Poikilocytosis	29127	RACGAP1	ORPHA:98870
HP:0004447	Poikilocytosis	164656	TMPRSS6	OMIM:206200
HP:0004447	Poikilocytosis	8573	CASK	OMIM:300908
HP:0004447	Poikilocytosis	2539	G6PD	OMIM:300908
HP:0004447	Poikilocytosis	7372	UMPS	OMIM:258900
HP:0004447	Poikilocytosis	84529	CDIN1	OMIM:615631
HP:0004447	Poikilocytosis	811	CALR	ORPHA:824
HP:0004447	Poikilocytosis	4352	MPL	ORPHA:824
HP:0004447	Poikilocytosis	3717	JAK2	ORPHA:824
HP:0004447	Poikilocytosis	54790	TET2	ORPHA:824
HP:0004447	Poikilocytosis	7390	UROS	ORPHA:79277
HP:0004447	Poikilocytosis	5313	PKLR	ORPHA:766
HP:0004447	Poikilocytosis	9419	CRIPT	OMIM:615789
HP:0004447	Poikilocytosis	81570	CLPB	OMIM:619835
HP:0004447	Poikilocytosis	55240	STEAP3	ORPHA:300298
HP:0004447	Poikilocytosis	80739	MPIG6B	OMIM:617441
HP:0004447	Poikilocytosis	3043	HBB	ORPHA:90039
HP:0004447	Poikilocytosis	8029	CUBN	ORPHA:35858
HP:0004447	Poikilocytosis	81693	AMN	ORPHA:35858
HP:0004448	Fulminant hepatic failure	3033	HADH	OMIM:231530
HP:0004448	Fulminant hepatic failure	11232	POLG2	OMIM:618528
HP:0004448	Fulminant hepatic failure	85476	GFM1	OMIM:609060
HP:0004448	Fulminant hepatic failure	10068	IL18BP	OMIM:618549
HP:0004448	Fulminant hepatic failure	3875	KRT18	OMIM:215600
HP:0004448	Fulminant hepatic failure	331	XIAP	OMIM:308240
HP:0004448	Fulminant hepatic failure	4068	SH2D1A	OMIM:308240
HP:0030300	10 pairs of ribs	6628	SNRPB	OMIM:117650
HP:0004450	Preauricular skin furrow	2263	FGFR2	ORPHA:1555
HP:0004450	Preauricular skin furrow	2263	FGFR2	OMIM:123790
HP:0004451	Postauricular skin tag	2773	GNAI3	OMIM:602483
HP:0004453	Overfolding of the superior helices	5332	PLCB4	OMIM:614669
HP:0004453	Overfolding of the superior helices	6299	SALL1	OMIM:107480
HP:0004453	Overfolding of the superior helices	2263	FGFR2	ORPHA:313855
HP:0004453	Overfolding of the superior helices	29998	BICRA	OMIM:619325
HP:0004453	Overfolding of the superior helices	2773	GNAI3	OMIM:602483
HP:0004454	Abnormal middle ear reflexes	9131	AIFM1	OMIM:300614
HP:0004454	Abnormal middle ear reflexes	9692	PRORP	OMIM:619737
HP:0004454	Abnormal middle ear reflexes	81624	DIAPH3	OMIM:609129
HP:0004454	Abnormal middle ear reflexes	9381	OTOF	OMIM:601071
HP:0004454	Abnormal middle ear reflexes	9526	MPDU1	ORPHA:79323
HP:0004458	Dilatated internal auditory canal	5456	POU3F4	OMIM:304400
HP:0004458	Dilatated internal auditory canal	5456	POU3F4	ORPHA:1435
HP:0004458	Dilatated internal auditory canal	10804	GJB6	OMIM:304400
HP:0004458	Dilatated internal auditory canal	2706	GJB2	OMIM:304400
HP:0004458	Dilatated internal auditory canal	2138	EYA1	OMIM:602588
HP:0004458	Dilatated internal auditory canal	2138	EYA1	OMIM:113650
HP:0004458	Dilatated internal auditory canal	6495	SIX1	OMIM:113650
HP:0004459	Exostosis of the external auditory canal	1146	CHRNG	OMIM:265000
HP:0004459	Exostosis of the external auditory canal	10526	IPO8	OMIM:619472
HP:0030304	Abnormal number of vertebrae	5077	PAX3	OMIM:193500
HP:0030304	Abnormal number of vertebrae	1723	DHODH	OMIM:263750
HP:0030304	Abnormal number of vertebrae	2719	GPC3	OMIM:312870
HP:0030304	Abnormal number of vertebrae	2239	GPC4	OMIM:312870
HP:0030304	Abnormal number of vertebrae	10220	GDF11	OMIM:619122
HP:0030303	Hypoplastic anterior commissure	473	RERE	OMIM:616975
HP:0030303	Hypoplastic anterior commissure	23499	MACF1	OMIM:618325
HP:0030303	Hypoplastic anterior commissure	9839	ZEB2	ORPHA:261552
HP:0030303	Hypoplastic anterior commissure	10381	TUBB3	OMIM:600638
HP:0030302	Agenesis of the anterior commissure	10381	TUBB3	ORPHA:300570
HP:0030301	Abnormality of the anterior commissure	1630	DCC	OMIM:617542
HP:0030301	Abnormality of the anterior commissure	387119	CEP85L	ORPHA:572013
HP:0030301	Abnormality of the anterior commissure	473	RERE	OMIM:616975
HP:0030301	Abnormality of the anterior commissure	23499	MACF1	OMIM:618325
HP:0030301	Abnormality of the anterior commissure	9839	ZEB2	ORPHA:261552
HP:0030301	Abnormality of the anterior commissure	10381	TUBB3	OMIM:600638
HP:0030307	Flared lower limb metaphysis	1311	COMP	OMIM:177170
HP:0030307	Flared lower limb metaphysis	59341	TRPV4	OMIM:156530
HP:0030307	Flared lower limb metaphysis	2146	EZH2	OMIM:277590
HP:0030307	Flared lower limb metaphysis	1302	COL11A2	ORPHA:1427
HP:0030307	Flared lower limb metaphysis	25885	POLR1A	OMIM:616462
HP:0030310	Upper extremity joint dislocation	23476	BRD4	ORPHA:199
HP:0030310	Upper extremity joint dislocation	9126	SMC3	ORPHA:199
HP:0030310	Upper extremity joint dislocation	8243	SMC1A	ORPHA:199
HP:0030310	Upper extremity joint dislocation	25836	NIPBL	ORPHA:199
HP:0030310	Upper extremity joint dislocation	55869	HDAC8	ORPHA:199
HP:0030310	Upper extremity joint dislocation	5885	RAD21	ORPHA:199
HP:0030310	Upper extremity joint dislocation	1857	DVL3	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	7474	WNT5A	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	1855	DVL1	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	2535	FZD2	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	2535	FZD2	ORPHA:93328
HP:0030310	Upper extremity joint dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0030310	Upper extremity joint dislocation	100151683	RNU4ATAC	ORPHA:1824
HP:0030310	Upper extremity joint dislocation	347734	SLC35B2	OMIM:620269
HP:0030310	Upper extremity joint dislocation	1836	SLC26A2	ORPHA:628
HP:0030310	Upper extremity joint dislocation	1836	SLC26A2	ORPHA:56304
HP:0030310	Upper extremity joint dislocation	9241	NOG	ORPHA:3250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	ORPHA:3250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	OMIM:201250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	ORPHA:968
HP:0030310	Upper extremity joint dislocation	9555	MACROH2A1	ORPHA:1275
HP:0030310	Upper extremity joint dislocation	5307	PITX1	ORPHA:1275
HP:0030310	Upper extremity joint dislocation	4038	LRP4	ORPHA:3258
HP:0030310	Upper extremity joint dislocation	324	APC	ORPHA:3258
HP:0030310	Upper extremity joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0030310	Upper extremity joint dislocation	4998	ORC1	OMIM:224690
HP:0030310	Upper extremity joint dislocation	4998	ORC1	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	9469	CHST3	OMIM:143095
HP:0030310	Upper extremity joint dislocation	64359	NXN	ORPHA:1507
HP:0030310	Upper extremity joint dislocation	4920	ROR2	ORPHA:1507
HP:0030310	Upper extremity joint dislocation	81620	CDT1	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	5000	ORC4	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	23594	ORC6	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	8318	CDC45	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	990	CDC6	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	990	CDC6	OMIM:613805
HP:0030310	Upper extremity joint dislocation	51053	GMNN	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	64131	XYLT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	124583	CANT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	3339	HSPG2	ORPHA:800
HP:0030310	Upper extremity joint dislocation	64093	SMOC1	ORPHA:1106
HP:0030310	Upper extremity joint dislocation	6473	SHOX	ORPHA:240
HP:0030310	Upper extremity joint dislocation	10082	GPC6	ORPHA:93329
HP:0030310	Upper extremity joint dislocation	2200	FBN1	ORPHA:2462
HP:0030310	Upper extremity joint dislocation	6497	SKI	ORPHA:2462
HP:0030310	Upper extremity joint dislocation	2316	FLNA	ORPHA:90650
HP:0030310	Upper extremity joint dislocation	2316	FLNA	ORPHA:90652
HP:0030310	Upper extremity joint dislocation	11285	B4GALT7	OMIM:130070
HP:0030310	Upper extremity joint dislocation	1182	CLCN3	OMIM:619512
HP:0030310	Upper extremity joint dislocation	85301	COL27A1	OMIM:615155
HP:0030310	Upper extremity joint dislocation	1387	CREBBP	OMIM:180849
HP:0030310	Upper extremity joint dislocation	2033	EP300	OMIM:180849
HP:0030310	Upper extremity joint dislocation	23233	EXOC6B	ORPHA:93359
HP:0030310	Upper extremity joint dislocation	23233	EXOC6B	OMIM:618395
HP:0030310	Upper extremity joint dislocation	126792	B3GALT6	ORPHA:93359
HP:0030310	Upper extremity joint dislocation	126792	B3GALT6	OMIM:271640
HP:0030310	Upper extremity joint dislocation	4010	LMX1B	ORPHA:2614
HP:0030310	Upper extremity joint dislocation	6885	MAP3K7	OMIM:617137
HP:0030310	Upper extremity joint dislocation	6885	MAP3K7	ORPHA:1826
HP:0030310	Upper extremity joint dislocation	145258	GSC	OMIM:602471
HP:0030310	Upper extremity joint dislocation	10847	SRCAP	OMIM:136140
HP:0030310	Upper extremity joint dislocation	10847	SRCAP	ORPHA:2044
HP:0030310	Upper extremity joint dislocation	91179	SCARF2	OMIM:600920
HP:0030310	Upper extremity joint dislocation	2137	EXTL3	OMIM:617425
HP:0030310	Upper extremity joint dislocation	6662	SOX9	OMIM:114290
HP:0030310	Upper extremity joint dislocation	10225	CD96	OMIM:211750
HP:0030310	Upper extremity joint dislocation	10225	CD96	ORPHA:1308
HP:0030310	Upper extremity joint dislocation	2067	ERCC1	OMIM:610758
HP:0030310	Upper extremity joint dislocation	1146	CHRNG	OMIM:265000
HP:0030310	Upper extremity joint dislocation	3835	KIF22	OMIM:603546
HP:0030310	Upper extremity joint dislocation	57492	ARID1B	OMIM:135900
HP:0030310	Upper extremity joint dislocation	3899	AFF3	OMIM:619297
HP:0030310	Upper extremity joint dislocation	4853	NOTCH2	OMIM:102500
HP:0030310	Upper extremity joint dislocation	1277	COL1A1	ORPHA:287
HP:0030310	Upper extremity joint dislocation	1289	COL5A1	ORPHA:287
HP:0030310	Upper extremity joint dislocation	1290	COL5A2	ORPHA:287
HP:0030310	Upper extremity joint dislocation	3897	L1CAM	OMIM:304100
HP:0030310	Upper extremity joint dislocation	171023	ASXL1	OMIM:605039
HP:0030310	Upper extremity joint dislocation	6913	TBX15	OMIM:260660
HP:0030310	Upper extremity joint dislocation	91252	SLC39A13	OMIM:612350
HP:0030310	Upper extremity joint dislocation	545	ATR	OMIM:210600
HP:0030310	Upper extremity joint dislocation	649	BMP1	OMIM:614856
HP:0030310	Upper extremity joint dislocation	29980	DONSON	OMIM:617604
HP:0030310	Upper extremity joint dislocation	5573	PRKAR1A	OMIM:101800
HP:0030310	Upper extremity joint dislocation	375	ARF1	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	4131	MAP1B	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	160418	TMTC3	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	55780	ERMARD	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	55768	NGLY1	ORPHA:404454
HP:0030310	Upper extremity joint dislocation	57167	SALL4	OMIM:607323
HP:0030310	Upper extremity joint dislocation	2317	FLNB	OMIM:150250
HP:0030310	Upper extremity joint dislocation	165	AEBP1	ORPHA:536532
HP:0030310	Upper extremity joint dislocation	26229	B3GAT3	OMIM:245600
HP:0030310	Upper extremity joint dislocation	9935	MAFB	OMIM:166300
HP:0030310	Upper extremity joint dislocation	387733	IFITM5	OMIM:610967
HP:0030310	Upper extremity joint dislocation	4000	LMNA	OMIM:212112
HP:0030310	Upper extremity joint dislocation	1278	COL1A2	ORPHA:230851
HP:0004463	Absent brainstem auditory responses	1678	TIMM8A	ORPHA:52368
HP:0004463	Absent brainstem auditory responses	9750	RIPOR2	OMIM:616515
HP:0004463	Absent brainstem auditory responses	9381	OTOF	OMIM:601071
HP:0004463	Absent brainstem auditory responses	7841	MOGS	ORPHA:79330
HP:0004463	Absent brainstem auditory responses	4747	NEFL	ORPHA:101085
HP:0004463	Absent brainstem auditory responses	6663	SOX10	OMIM:609136
HP:0004463	Absent brainstem auditory responses	57731	SPTBN4	OMIM:617519
HP:0004463	Absent brainstem auditory responses	1161	ERCC8	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	2072	ERCC4	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	2074	ERCC6	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	4976	OPA1	ORPHA:1215
HP:0004464	Postauricular pit	6850	SYK	OMIM:619381
HP:0004464	Postauricular pit	7020	TFAP2A	OMIM:113620
HP:0004464	Postauricular pit	7020	TFAP2A	ORPHA:1297
HP:0004464	Postauricular pit	2719	GPC3	OMIM:312870
HP:0004464	Postauricular pit	2239	GPC4	OMIM:312870
HP:0004466	Prolonged brainstem auditory evoked potentials	79628	SH3TC2	OMIM:601596
HP:0004466	Prolonged brainstem auditory evoked potentials	2581	GALC	ORPHA:206443
HP:0004466	Prolonged brainstem auditory evoked potentials	2581	GALC	ORPHA:206448
HP:0004466	Prolonged brainstem auditory evoked potentials	2581	GALC	ORPHA:206436
HP:0004466	Prolonged brainstem auditory evoked potentials	5660	PSAP	ORPHA:206436
HP:0004466	Prolonged brainstem auditory evoked potentials	51501	HIKESHI	OMIM:616881
HP:0004468	Anomalous tracheal cartilage	10682	EBP	ORPHA:35173
HP:0004468	Anomalous tracheal cartilage	6628	SNRPB	OMIM:117650
HP:0004468	Anomalous tracheal cartilage	2263	FGFR2	OMIM:101200
HP:0004469	Chronic bronchitis	1789	DNMT3B	OMIM:242860
HP:0004469	Chronic bronchitis	7840	ALMS1	ORPHA:64
HP:0004469	Chronic bronchitis	6340	SCNN1G	OMIM:613071
HP:0004469	Chronic bronchitis	5265	SERPINA1	OMIM:613490
HP:0004469	Chronic bronchitis	55130	ODAD2	OMIM:615451
HP:0004469	Chronic bronchitis	2990	GUSB	OMIM:253220
HP:0004469	Chronic bronchitis	9841	ZBTB24	OMIM:614069
HP:0004469	Chronic bronchitis	1080	CFTR	OMIM:211400
HP:0004469	Chronic bronchitis	6338	SCNN1B	OMIM:211400
HP:0004469	Chronic bronchitis	5880	RAC2	OMIM:618986
HP:0004469	Chronic bronchitis	26146	TRAF3IP1	OMIM:616629
HP:0004469	Chronic bronchitis	345895	RSPH4A	OMIM:612649
HP:0004469	Chronic bronchitis	54768	HYDIN	OMIM:608647
HP:0004469	Chronic bronchitis	161582	DNAAF4	OMIM:615482
HP:0004469	Chronic bronchitis	146206	CARMIL2	OMIM:618131
HP:0004469	Chronic bronchitis	6337	SCNN1A	OMIM:613021
HP:0004469	Chronic bronchitis	56683	CFAP298	OMIM:615500
HP:0004469	Chronic bronchitis	54919	DNAAF5	OMIM:614874
HP:0004469	Chronic bronchitis	51364	ZMYND10	OMIM:615444
HP:0004469	Chronic bronchitis	115948	ODAD3	OMIM:616037
HP:0004469	Chronic bronchitis	85478	CCDC65	OMIM:615504
HP:0004469	Chronic bronchitis	6674	SPAG1	OMIM:615505
HP:0004469	Chronic bronchitis	23639	DNAAF11	OMIM:614935
HP:0004469	Chronic bronchitis	55036	CCDC40	OMIM:613808
HP:0004469	Chronic bronchitis	339829	CCDC39	OMIM:613807
HP:0030314	Periostosis	6578	SLCO2A1	OMIM:614441
HP:0030312	Obliteration of the calvarial diploe	1747	DLX3	ORPHA:3352
HP:0030311	Lower extremity joint dislocation	9361	LONP1	OMIM:600373
HP:0030311	Lower extremity joint dislocation	9361	LONP1	ORPHA:1458
HP:0030311	Lower extremity joint dislocation	6261	RYR1	ORPHA:597
HP:0030311	Lower extremity joint dislocation	6261	RYR1	OMIM:117000
HP:0030311	Lower extremity joint dislocation	64840	PORCN	OMIM:305600
HP:0030311	Lower extremity joint dislocation	6628	SNRPB	OMIM:117650
HP:0030311	Lower extremity joint dislocation	5351	PLOD1	OMIM:225400
HP:0030311	Lower extremity joint dislocation	134218	DNAJC21	OMIM:617052
HP:0030311	Lower extremity joint dislocation	1182	CLCN3	OMIM:619512
HP:0030311	Lower extremity joint dislocation	63895	PIEZO2	OMIM:114300
HP:0030311	Lower extremity joint dislocation	2138	EYA1	OMIM:113650
HP:0030311	Lower extremity joint dislocation	6495	SIX1	OMIM:113650
HP:0030311	Lower extremity joint dislocation	84627	ZNF469	OMIM:229200
HP:0030311	Lower extremity joint dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0030311	Lower extremity joint dislocation	7531	YWHAE	ORPHA:217385
HP:0030311	Lower extremity joint dislocation	6885	MAP3K7	OMIM:617137
HP:0030311	Lower extremity joint dislocation	9820	CUL7	ORPHA:2616
HP:0030311	Lower extremity joint dislocation	23363	OBSL1	ORPHA:2616
HP:0030311	Lower extremity joint dislocation	83987	CCDC8	ORPHA:2616
HP:0030311	Lower extremity joint dislocation	8239	USP9X	ORPHA:480880
HP:0030311	Lower extremity joint dislocation	8195	MKKS	OMIM:236700
HP:0030311	Lower extremity joint dislocation	1131	CHRM3	ORPHA:2970
HP:0030311	Lower extremity joint dislocation	1131	CHRM3	OMIM:100100
HP:0030311	Lower extremity joint dislocation	10060	ABCC9	OMIM:619719
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	OMIM:219200
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	OMIM:278250
HP:0030311	Lower extremity joint dislocation	9401	RECQL4	OMIM:268400
HP:0030311	Lower extremity joint dislocation	89910	UBE3B	OMIM:244450
HP:0030311	Lower extremity joint dislocation	1723	DHODH	OMIM:263750
HP:0030311	Lower extremity joint dislocation	60482	SLC5A7	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	4649	MYO9A	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	1305	COL13A1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	1103	CHAT	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6576	SLC25A1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6843	VAMP1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	375790	AGRN	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	127833	SYT2	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6572	SLC18A3	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6616	SNAP25	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	5832	ALDH18A1	OMIM:219150
HP:0030311	Lower extremity joint dislocation	55768	NGLY1	ORPHA:404454
HP:0030311	Lower extremity joint dislocation	2316	FLNA	OMIM:304120
HP:0030311	Lower extremity joint dislocation	2273	FHL1	OMIM:300280
HP:0030311	Lower extremity joint dislocation	7169	TPM2	OMIM:108120
HP:0030311	Lower extremity joint dislocation	7169	TPM2	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	6904	TBCD	ORPHA:496641
HP:0030311	Lower extremity joint dislocation	7547	ZIC3	OMIM:306955
HP:0030311	Lower extremity joint dislocation	3835	KIF22	OMIM:603546
HP:0030311	Lower extremity joint dislocation	2239	GPC4	ORPHA:373
HP:0030311	Lower extremity joint dislocation	2719	GPC3	ORPHA:373
HP:0030311	Lower extremity joint dislocation	7476	WNT7A	OMIM:228930
HP:0030311	Lower extremity joint dislocation	1290	COL5A2	OMIM:130010
HP:0030311	Lower extremity joint dislocation	523	ATP6V1A	ORPHA:357074
HP:0030311	Lower extremity joint dislocation	529	ATP6V1E1	ORPHA:357074
HP:0030311	Lower extremity joint dislocation	5528	PPP2R5D	ORPHA:457279
HP:0030311	Lower extremity joint dislocation	5528	PPP2R5D	OMIM:616355
HP:0030311	Lower extremity joint dislocation	8260	NAA10	OMIM:300855
HP:0030311	Lower extremity joint dislocation	50814	NSDHL	OMIM:308050
HP:0030311	Lower extremity joint dislocation	23522	KAT6B	OMIM:606170
HP:0030311	Lower extremity joint dislocation	5831	PYCR1	OMIM:612940
HP:0030311	Lower extremity joint dislocation	50628	GEMIN4	OMIM:617913
HP:0030311	Lower extremity joint dislocation	3339	HSPG2	OMIM:255800
HP:0030311	Lower extremity joint dislocation	9896	FIG4	OMIM:216340
HP:0030311	Lower extremity joint dislocation	23299	BICD2	OMIM:618291
HP:0030311	Lower extremity joint dislocation	22827	PUF60	ORPHA:508488
HP:0030311	Lower extremity joint dislocation	1281	COL3A1	ORPHA:286
HP:0030311	Lower extremity joint dislocation	57190	SELENON	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	58	ACTA1	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	4633	MYL2	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	3679	ITGA7	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	9200	HACD1	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	7170	TPM3	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	7170	TPM3	OMIM:255310
HP:0030311	Lower extremity joint dislocation	51776	MAP3K20	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	51651	PTRH2	ORPHA:456312
HP:0030311	Lower extremity joint dislocation	9427	ECEL1	OMIM:615065
HP:0030311	Lower extremity joint dislocation	7067	THRA	OMIM:614450
HP:0030311	Lower extremity joint dislocation	8085	KMT2D	OMIM:147920
HP:0030311	Lower extremity joint dislocation	7403	KDM6A	OMIM:147920
HP:0030311	Lower extremity joint dislocation	2737	GLI3	ORPHA:672
HP:0030311	Lower extremity joint dislocation	2737	GLI3	OMIM:146510
HP:0030311	Lower extremity joint dislocation	2737	GLI3	ORPHA:93322
HP:0030311	Lower extremity joint dislocation	55906	ZC4H2	OMIM:301041
HP:0030311	Lower extremity joint dislocation	55906	ZC4H2	OMIM:314580
HP:0030311	Lower extremity joint dislocation	55703	POLR3B	OMIM:614381
HP:0030311	Lower extremity joint dislocation	10262	SF3B4	OMIM:154400
HP:0030311	Lower extremity joint dislocation	1291	COL6A1	OMIM:254090
HP:0030311	Lower extremity joint dislocation	1291	COL6A1	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	1292	COL6A2	OMIM:254090
HP:0030311	Lower extremity joint dislocation	1292	COL6A2	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	1293	COL6A3	OMIM:254090
HP:0030311	Lower extremity joint dislocation	1293	COL6A3	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	56896	DPYSL5	OMIM:619435
HP:0030311	Lower extremity joint dislocation	579	NKX3-2	OMIM:613330
HP:0030311	Lower extremity joint dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0030311	Lower extremity joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0030311	Lower extremity joint dislocation	10054	UBA2	OMIM:619959
HP:0030311	Lower extremity joint dislocation	79796	ALG9	OMIM:608776
HP:0030311	Lower extremity joint dislocation	2317	FLNB	ORPHA:56305
HP:0030311	Lower extremity joint dislocation	2317	FLNB	OMIM:150250
HP:0030311	Lower extremity joint dislocation	4784	NFIX	ORPHA:447980
HP:0030311	Lower extremity joint dislocation	6662	SOX9	ORPHA:140
HP:0030311	Lower extremity joint dislocation	6662	SOX9	OMIM:114290
HP:0030311	Lower extremity joint dislocation	4703	NEB	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	10324	KLHL41	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	56203	LMOD3	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	1073	CFL2	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	6536	SLC6A9	OMIM:617301
HP:0030311	Lower extremity joint dislocation	1278	COL1A2	OMIM:617821
HP:0030311	Lower extremity joint dislocation	1278	COL1A2	ORPHA:1899
HP:0030311	Lower extremity joint dislocation	55784	MCTP2	ORPHA:1596
HP:0030311	Lower extremity joint dislocation	16	AARS1	OMIM:616339
HP:0030311	Lower extremity joint dislocation	51010	EXOSC3	OMIM:614678
HP:0030311	Lower extremity joint dislocation	1717	DHCR7	ORPHA:818
HP:0030311	Lower extremity joint dislocation	1717	DHCR7	OMIM:270400
HP:0030311	Lower extremity joint dislocation	9915	ARNT2	OMIM:615926
HP:0030311	Lower extremity joint dislocation	10225	CD96	OMIM:211750
HP:0030311	Lower extremity joint dislocation	79158	GNPTAB	OMIM:252500
HP:0030311	Lower extremity joint dislocation	79158	GNPTAB	ORPHA:576
HP:0030311	Lower extremity joint dislocation	4626	MYH8	ORPHA:3377
HP:0030311	Lower extremity joint dislocation	4626	MYH8	OMIM:158300
HP:0030311	Lower extremity joint dislocation	4952	OCRL	ORPHA:534
HP:0030311	Lower extremity joint dislocation	4952	OCRL	OMIM:309000
HP:0030311	Lower extremity joint dislocation	2067	ERCC1	OMIM:610758
HP:0030311	Lower extremity joint dislocation	4038	LRP4	ORPHA:3258
HP:0030311	Lower extremity joint dislocation	324	APC	ORPHA:3258
HP:0030311	Lower extremity joint dislocation	2187	FANCB	ORPHA:3412
HP:0030311	Lower extremity joint dislocation	2187	FANCB	ORPHA:84
HP:0030311	Lower extremity joint dislocation	23499	MACF1	ORPHA:572013
HP:0030311	Lower extremity joint dislocation	387119	CEP85L	ORPHA:572013
HP:0030311	Lower extremity joint dislocation	64135	IFIH1	OMIM:182250
HP:0030311	Lower extremity joint dislocation	29925	GMPPB	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	79147	FKRP	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	29954	POMT2	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	29954	POMT2	OMIM:613156
HP:0030311	Lower extremity joint dislocation	9215	LARGE1	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	10585	POMT1	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	1146	CHRNG	OMIM:265000
HP:0030311	Lower extremity joint dislocation	4621	MYH3	OMIM:193700
HP:0030311	Lower extremity joint dislocation	1351	COX8A	OMIM:619059
HP:0030311	Lower extremity joint dislocation	2530	FUT8	OMIM:618005
HP:0030311	Lower extremity joint dislocation	4052	LTBP1	OMIM:619451
HP:0030311	Lower extremity joint dislocation	4052	LTBP1	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	3899	AFF3	OMIM:619297
HP:0030311	Lower extremity joint dislocation	165	AEBP1	OMIM:618000
HP:0030311	Lower extremity joint dislocation	165	AEBP1	ORPHA:536532
HP:0030311	Lower extremity joint dislocation	3572	IL6ST	OMIM:618523
HP:0030311	Lower extremity joint dislocation	64131	XYLT1	OMIM:615777
HP:0030311	Lower extremity joint dislocation	29920	PYCR2	ORPHA:481152
HP:0030311	Lower extremity joint dislocation	672	BRCA1	ORPHA:84
HP:0030311	Lower extremity joint dislocation	10459	MAD2L2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	7516	XRCC2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	29089	UBE2T	ORPHA:84
HP:0030311	Lower extremity joint dislocation	675	BRCA2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55120	FANCL	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2177	FANCD2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2175	FANCA	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2176	FANCC	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2178	FANCE	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2188	FANCF	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2189	FANCG	ORPHA:84
HP:0030311	Lower extremity joint dislocation	5888	RAD51	ORPHA:84
HP:0030311	Lower extremity joint dislocation	5889	RAD51C	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55159	RFWD3	ORPHA:84
HP:0030311	Lower extremity joint dislocation	83990	BRIP1	ORPHA:84
HP:0030311	Lower extremity joint dislocation	57697	FANCM	ORPHA:84
HP:0030311	Lower extremity joint dislocation	79728	PALB2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	84464	SLX4	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2072	ERCC4	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55215	FANCI	ORPHA:84
HP:0030311	Lower extremity joint dislocation	6678	SPARC	OMIM:616507
HP:0030311	Lower extremity joint dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0030311	Lower extremity joint dislocation	9509	ADAMTS2	ORPHA:1901
HP:0030311	Lower extremity joint dislocation	8200	GDF5	ORPHA:968
HP:0030311	Lower extremity joint dislocation	8200	GDF5	OMIM:201250
HP:0030311	Lower extremity joint dislocation	64093	SMOC1	ORPHA:1106
HP:0030311	Lower extremity joint dislocation	64093	SMOC1	OMIM:206920
HP:0030311	Lower extremity joint dislocation	25778	DSTYK	ORPHA:101003
HP:0030311	Lower extremity joint dislocation	1289	COL5A1	ORPHA:287
HP:0030311	Lower extremity joint dislocation	57531	HACE1	ORPHA:464282
HP:0030311	Lower extremity joint dislocation	57531	HACE1	OMIM:616756
HP:0030311	Lower extremity joint dislocation	1280	COL2A1	OMIM:156550
HP:0030311	Lower extremity joint dislocation	1280	COL2A1	OMIM:183900
HP:0030311	Lower extremity joint dislocation	2743	GLRB	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	2741	GLRA1	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	2741	GLRA1	OMIM:149400
HP:0030311	Lower extremity joint dislocation	10243	GPHN	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	10243	GPHN	OMIM:149400
HP:0030311	Lower extremity joint dislocation	84896	ATAD1	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	9152	SLC6A5	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	55697	VAC14	ORPHA:3472
HP:0030311	Lower extremity joint dislocation	860	RUNX2	OMIM:119600
HP:0030311	Lower extremity joint dislocation	22872	SEC31A	OMIM:618651
HP:0030311	Lower extremity joint dislocation	26175	LYSET	OMIM:619345
HP:0030311	Lower extremity joint dislocation	9451	EIF2AK3	OMIM:226980
HP:0030311	Lower extremity joint dislocation	10682	EBP	ORPHA:35173
HP:0030311	Lower extremity joint dislocation	545	ATR	OMIM:210600
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2260	FGFR1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2260	FGFR1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	23007	PLCH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	10735	STAG2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	10735	STAG2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	53834	FGFRL1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	1487	CTBP1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	3954	LETM1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	7468	NSD2	OMIM:194190
HP:0030311	Lower extremity joint dislocation	10815	CPLX1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	64374	SIL1	ORPHA:559
HP:0030311	Lower extremity joint dislocation	51763	INPP5K	ORPHA:559
HP:0030311	Lower extremity joint dislocation	9487	PIGL	ORPHA:3474
HP:0030311	Lower extremity joint dislocation	55644	OSGEP	OMIM:617729
HP:0030311	Lower extremity joint dislocation	2697	GJA1	OMIM:164200
HP:0030311	Lower extremity joint dislocation	2313	FLI1	ORPHA:2308
HP:0030311	Lower extremity joint dislocation	23476	BRD4	ORPHA:199
HP:0030311	Lower extremity joint dislocation	9126	SMC3	ORPHA:199
HP:0030311	Lower extremity joint dislocation	8243	SMC1A	ORPHA:199
HP:0030311	Lower extremity joint dislocation	8243	SMC1A	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	25836	NIPBL	ORPHA:199
HP:0030311	Lower extremity joint dislocation	55869	HDAC8	ORPHA:199
HP:0030311	Lower extremity joint dislocation	5885	RAD21	ORPHA:199
HP:0030311	Lower extremity joint dislocation	538	ATP7A	ORPHA:198
HP:0030311	Lower extremity joint dislocation	57003	CCDC47	OMIM:618268
HP:0030311	Lower extremity joint dislocation	85301	COL27A1	OMIM:615155
HP:0030311	Lower extremity joint dislocation	10526	IPO8	OMIM:619472
HP:0030311	Lower extremity joint dislocation	1857	DVL3	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	7474	WNT5A	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	1855	DVL1	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	2535	FZD2	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	1861	TOR1A	OMIM:618947
HP:0030311	Lower extremity joint dislocation	23233	EXOC6B	ORPHA:93359
HP:0030311	Lower extremity joint dislocation	23233	EXOC6B	OMIM:618395
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6	ORPHA:93359
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6	OMIM:271640
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6	OMIM:615349
HP:0030311	Lower extremity joint dislocation	23443	SLC35A3	OMIM:615553
HP:0030311	Lower extremity joint dislocation	23443	SLC35A3	ORPHA:370943
HP:0030311	Lower extremity joint dislocation	3098	HK1	OMIM:618547
HP:0030311	Lower extremity joint dislocation	6608	SMO	OMIM:241800
HP:0030311	Lower extremity joint dislocation	81031	SLC2A10	ORPHA:3342
HP:0030311	Lower extremity joint dislocation	4796	TONSL	ORPHA:93357
HP:0030311	Lower extremity joint dislocation	145258	GSC	OMIM:602471
HP:0030311	Lower extremity joint dislocation	5728	PTEN	ORPHA:744
HP:0030311	Lower extremity joint dislocation	207	AKT1	ORPHA:744
HP:0030311	Lower extremity joint dislocation	6558	SLC12A2	OMIM:619083
HP:0030311	Lower extremity joint dislocation	4000	LMNA	ORPHA:740
HP:0030311	Lower extremity joint dislocation	10269	ZMPSTE24	ORPHA:740
HP:0030311	Lower extremity joint dislocation	78989	COLEC11	OMIM:265050
HP:0030311	Lower extremity joint dislocation	78989	COLEC11	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	3251	HPRT1	OMIM:300322
HP:0030311	Lower extremity joint dislocation	51360	MBTPS2	OMIM:308205
HP:0030311	Lower extremity joint dislocation	7140	TNNT3	OMIM:618435
HP:0030311	Lower extremity joint dislocation	113246	C12orf57	OMIM:218340
HP:0030311	Lower extremity joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0030311	Lower extremity joint dislocation	7030	TFE3	OMIM:301066
HP:0030311	Lower extremity joint dislocation	2006	ELN	ORPHA:90348
HP:0030311	Lower extremity joint dislocation	10516	FBLN5	ORPHA:90348
HP:0030311	Lower extremity joint dislocation	10516	FBLN5	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	30008	EFEMP2	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	284058	KANSL1	OMIM:610443
HP:0030311	Lower extremity joint dislocation	55681	SCYL2	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	84570	COL25A1	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	57222	ERGIC1	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	92344	GORAB	ORPHA:2078
HP:0030311	Lower extremity joint dislocation	10584	COLEC10	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	5648	MASP1	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	9939	RBM8A	ORPHA:3320
HP:0030311	Lower extremity joint dislocation	9939	RBM8A	OMIM:274000
HP:0030311	Lower extremity joint dislocation	9469	CHST3	OMIM:245600
HP:0030311	Lower extremity joint dislocation	26229	B3GAT3	OMIM:245600
HP:0030311	Lower extremity joint dislocation	9775	EIF4A3	OMIM:268305
HP:0030311	Lower extremity joint dislocation	81603	TRIM8	OMIM:619428
HP:0030311	Lower extremity joint dislocation	3207	HOXA11	OMIM:605432
HP:0030311	Lower extremity joint dislocation	375	ARF1	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	4131	MAP1B	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	160418	TMTC3	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	55780	ERMARD	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	50515	CHST11	OMIM:618167
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	OMIM:180849
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	ORPHA:353277
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	ORPHA:353281
HP:0030311	Lower extremity joint dislocation	2033	EP300	OMIM:180849
HP:0030311	Lower extremity joint dislocation	2033	EP300	ORPHA:353284
HP:0030311	Lower extremity joint dislocation	7528	YY1	OMIM:617557
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	ORPHA:2614
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	OMIM:161200
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	ORPHA:495818
HP:0030311	Lower extremity joint dislocation	91461	PKDCC	OMIM:618821
HP:0030311	Lower extremity joint dislocation	6804	STX1A	ORPHA:904
HP:0030311	Lower extremity joint dislocation	7461	CLIP2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	84277	DNAJC30	ORPHA:904
HP:0030311	Lower extremity joint dislocation	8468	FKBP6	ORPHA:904
HP:0030311	Lower extremity joint dislocation	5982	RFC2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	2969	GTF2I	ORPHA:904
HP:0030311	Lower extremity joint dislocation	3984	LIMK1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9569	GTF2IRD1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	155382	VPS37D	ORPHA:904
HP:0030311	Lower extremity joint dislocation	155368	METTL27	ORPHA:904
HP:0030311	Lower extremity joint dislocation	114049	BUD23	ORPHA:904
HP:0030311	Lower extremity joint dislocation	7458	EIF4H	ORPHA:904
HP:0030311	Lower extremity joint dislocation	84163	GTF2IRD2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9275	BCL7B	ORPHA:904
HP:0030311	Lower extremity joint dislocation	26608	TBL2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	653361	NCF1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	135886	TMEM270	ORPHA:904
HP:0030311	Lower extremity joint dislocation	51085	MLXIPL	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9031	BAZ1B	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9496	TBX4	OMIM:147891
HP:0030311	Lower extremity joint dislocation	1312	COMT	ORPHA:567
HP:0030311	Lower extremity joint dislocation	221037	JMJD1C	ORPHA:567
HP:0030311	Lower extremity joint dislocation	2812	GP1BB	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6239	RREB1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6899	TBX1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6899	TBX1	OMIM:188400
HP:0030311	Lower extremity joint dislocation	7290	HIRA	ORPHA:567
HP:0030311	Lower extremity joint dislocation	9632	SEC24C	ORPHA:567
HP:0030311	Lower extremity joint dislocation	7353	UFD1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	421	ARVCF	ORPHA:567
HP:0030311	Lower extremity joint dislocation	124583	CANT1	ORPHA:1425
HP:0030311	Lower extremity joint dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0030311	Lower extremity joint dislocation	6812	STXBP1	ORPHA:495818
HP:0030311	Lower extremity joint dislocation	2201	FBN2	OMIM:121050
HP:0030311	Lower extremity joint dislocation	4853	NOTCH2	ORPHA:955
HP:0030311	Lower extremity joint dislocation	79989	IFT56	OMIM:619534
HP:0030311	Lower extremity joint dislocation	84068	SLC10A7	OMIM:618363
HP:0030311	Lower extremity joint dislocation	347734	SLC35B2	OMIM:620269
HP:0030311	Lower extremity joint dislocation	10586	MAB21L2	OMIM:615877
HP:0030311	Lower extremity joint dislocation	54928	BPNT2	OMIM:614078
HP:0030311	Lower extremity joint dislocation	5567	PRKACB	OMIM:619143
HP:0030311	Lower extremity joint dislocation	23345	SYNE1	ORPHA:319332
HP:0030311	Lower extremity joint dislocation	1303	COL12A1	ORPHA:536516
HP:0030311	Lower extremity joint dislocation	9894	TELO2	ORPHA:488642
HP:0030311	Lower extremity joint dislocation	1277	COL1A1	OMIM:130060
HP:0030311	Lower extremity joint dislocation	57477	SHROOM4	ORPHA:85288
HP:0030311	Lower extremity joint dislocation	2192	FBLN1	ORPHA:404451
HP:0030311	Lower extremity joint dislocation	8218	CLTCL1	ORPHA:453510
HP:0030311	Lower extremity joint dislocation	55699	IARS2	OMIM:616007
HP:0030311	Lower extremity joint dislocation	1836	SLC26A2	ORPHA:93307
HP:0030311	Lower extremity joint dislocation	6913	TBX15	OMIM:260660
HP:0030311	Lower extremity joint dislocation	9759	HDAC4	OMIM:619797
HP:0030311	Lower extremity joint dislocation	7319	UBE2A	ORPHA:163956
HP:0030319	Weakness of facial musculature	4359	MPZ	OMIM:618184
HP:0030319	Weakness of facial musculature	8506	CNTNAP1	OMIM:618186
HP:0030319	Weakness of facial musculature	8506	CNTNAP1	OMIM:616286
HP:0030319	Weakness of facial musculature	112	ADCY6	OMIM:616287
HP:0030319	Weakness of facial musculature	2733	GLE1	OMIM:611890
HP:0030319	Weakness of facial musculature	1410	CRYAB	ORPHA:399058
HP:0030319	Weakness of facial musculature	19	ABCA1	OMIM:205400
HP:0030319	Weakness of facial musculature	19	ABCA1	ORPHA:31150
HP:0030319	Weakness of facial musculature	9997	SCO2	ORPHA:521411
HP:0030319	Weakness of facial musculature	9289	ADGRG1	ORPHA:98889
HP:0030319	Weakness of facial musculature	5297	PI4KA	ORPHA:98889
HP:0030319	Weakness of facial musculature	27286	SRPX2	ORPHA:98889
HP:0030319	Weakness of facial musculature	8803	SUCLA2	OMIM:612073
HP:0030319	Weakness of facial musculature	6472	SHMT2	OMIM:619121
HP:0030319	Weakness of facial musculature	10730	YME1L1	OMIM:617302
HP:0030319	Weakness of facial musculature	2218	FKTN	ORPHA:370980
HP:0030319	Weakness of facial musculature	729920	CRPPA	ORPHA:370980
HP:0030319	Weakness of facial musculature	1760	DMPK	OMIM:160900
HP:0030319	Weakness of facial musculature	9990	SLC12A6	OMIM:218000
HP:0030319	Weakness of facial musculature	4649	MYO9A	ORPHA:98914
HP:0030319	Weakness of facial musculature	1103	CHAT	ORPHA:98914
HP:0030319	Weakness of facial musculature	6576	SLC25A1	ORPHA:98914
HP:0030319	Weakness of facial musculature	6843	VAMP1	ORPHA:98914
HP:0030319	Weakness of facial musculature	127833	SYT2	ORPHA:98914
HP:0030319	Weakness of facial musculature	6572	SLC18A3	ORPHA:98914
HP:0030319	Weakness of facial musculature	6616	SNAP25	ORPHA:98914
HP:0030319	Weakness of facial musculature	84570	COL25A1	ORPHA:91411
HP:0030319	Weakness of facial musculature	79776	ZFHX4	ORPHA:91411
HP:0030319	Weakness of facial musculature	10312	TCIRG1	OMIM:259700
HP:0030319	Weakness of facial musculature	79628	SH3TC2	ORPHA:99949
HP:0030319	Weakness of facial musculature	27247	NFU1	OMIM:605711
HP:0030319	Weakness of facial musculature	1282	COL4A1	OMIM:175780
HP:0030319	Weakness of facial musculature	91574	MTRFR	OMIM:613559
HP:0030319	Weakness of facial musculature	1186	CLCN7	OMIM:166600
HP:0030319	Weakness of facial musculature	773	CACNA1A	ORPHA:569
HP:0030319	Weakness of facial musculature	112476	PRRT2	ORPHA:569
HP:0030319	Weakness of facial musculature	6323	SCN1A	ORPHA:569
HP:0030319	Weakness of facial musculature	477	ATP1A2	ORPHA:569
HP:0030319	Weakness of facial musculature	8600	TNFSF11	OMIM:259710
HP:0030319	Weakness of facial musculature	58	ACTA1	ORPHA:97240
HP:0030319	Weakness of facial musculature	58	ACTA1	ORPHA:171436
HP:0030319	Weakness of facial musculature	58	ACTA1	ORPHA:171433
HP:0030319	Weakness of facial musculature	58	ACTA1	ORPHA:171430
HP:0030319	Weakness of facial musculature	58	ACTA1	OMIM:616852
HP:0030319	Weakness of facial musculature	58	ACTA1	OMIM:161800
HP:0030319	Weakness of facial musculature	50964	SOST	OMIM:269500
HP:0030319	Weakness of facial musculature	50964	SOST	ORPHA:3416
HP:0030319	Weakness of facial musculature	50964	SOST	ORPHA:3152
HP:0030319	Weakness of facial musculature	274	BIN1	ORPHA:169186
HP:0030319	Weakness of facial musculature	274	BIN1	OMIM:255200
HP:0030319	Weakness of facial musculature	10290	SPEG	ORPHA:169186
HP:0030319	Weakness of facial musculature	6261	RYR1	ORPHA:169186
HP:0030319	Weakness of facial musculature	6261	RYR1	OMIM:255320
HP:0030319	Weakness of facial musculature	6261	RYR1	ORPHA:178145
HP:0030319	Weakness of facial musculature	6261	RYR1	ORPHA:98905
HP:0030319	Weakness of facial musculature	7273	TTN	ORPHA:169186
HP:0030319	Weakness of facial musculature	291	SLC25A4	ORPHA:254892
HP:0030319	Weakness of facial musculature	291	SLC25A4	OMIM:609283
HP:0030319	Weakness of facial musculature	5428	POLG	ORPHA:254892
HP:0030319	Weakness of facial musculature	5428	POLG	OMIM:258450
HP:0030319	Weakness of facial musculature	5428	POLG	ORPHA:254886
HP:0030319	Weakness of facial musculature	5428	POLG	OMIM:157640
HP:0030319	Weakness of facial musculature	56652	TWNK	ORPHA:254892
HP:0030319	Weakness of facial musculature	11232	POLG2	ORPHA:254892
HP:0030319	Weakness of facial musculature	11232	POLG2	OMIM:610131
HP:0030319	Weakness of facial musculature	50484	RRM2B	ORPHA:254892
HP:0030319	Weakness of facial musculature	22827	PUF60	ORPHA:508498
HP:0030319	Weakness of facial musculature	55906	ZC4H2	OMIM:301041
HP:0030319	Weakness of facial musculature	55906	ZC4H2	OMIM:314580
HP:0030319	Weakness of facial musculature	2673	GFPT1	OMIM:608931
HP:0030319	Weakness of facial musculature	2673	GFPT1	ORPHA:353327
HP:0030319	Weakness of facial musculature	2673	GFPT1	OMIM:610542
HP:0030319	Weakness of facial musculature	1145	CHRNE	OMIM:608931
HP:0030319	Weakness of facial musculature	1145	CHRNE	ORPHA:98913
HP:0030319	Weakness of facial musculature	1291	COL6A1	OMIM:254090
HP:0030319	Weakness of facial musculature	1292	COL6A2	OMIM:254090
HP:0030319	Weakness of facial musculature	1292	COL6A2	OMIM:255600
HP:0030319	Weakness of facial musculature	1293	COL6A3	OMIM:254090
HP:0030319	Weakness of facial musculature	1144	CHRND	OMIM:616322
HP:0030319	Weakness of facial musculature	1144	CHRND	OMIM:616323
HP:0030319	Weakness of facial musculature	1144	CHRND	ORPHA:98913
HP:0030319	Weakness of facial musculature	2138	EYA1	OMIM:113650
HP:0030319	Weakness of facial musculature	2138	EYA1	ORPHA:107
HP:0030319	Weakness of facial musculature	2138	EYA1	ORPHA:52429
HP:0030319	Weakness of facial musculature	6495	SIX1	OMIM:113650
HP:0030319	Weakness of facial musculature	6495	SIX1	ORPHA:107
HP:0030319	Weakness of facial musculature	6495	SIX1	ORPHA:52429
HP:0030319	Weakness of facial musculature	56203	LMOD3	OMIM:616165
HP:0030319	Weakness of facial musculature	56203	LMOD3	ORPHA:171436
HP:0030319	Weakness of facial musculature	56203	LMOD3	ORPHA:171430
HP:0030319	Weakness of facial musculature	2697	GJA1	ORPHA:1522
HP:0030319	Weakness of facial musculature	2697	GJA1	OMIM:218400
HP:0030319	Weakness of facial musculature	56172	ANKH	ORPHA:1522
HP:0030319	Weakness of facial musculature	56172	ANKH	OMIM:123000
HP:0030319	Weakness of facial musculature	4593	MUSK	OMIM:616325
HP:0030319	Weakness of facial musculature	4593	MUSK	ORPHA:98913
HP:0030319	Weakness of facial musculature	1305	COL13A1	OMIM:616720
HP:0030319	Weakness of facial musculature	1305	COL13A1	ORPHA:98913
HP:0030319	Weakness of facial musculature	23394	ADNP	OMIM:615873
HP:0030319	Weakness of facial musculature	400916	CHCHD10	OMIM:616209
HP:0030319	Weakness of facial musculature	4038	LRP4	OMIM:614305
HP:0030319	Weakness of facial musculature	4038	LRP4	ORPHA:98913
HP:0030319	Weakness of facial musculature	4038	LRP4	ORPHA:3152
HP:0030319	Weakness of facial musculature	7415	VCP	OMIM:167320
HP:0030319	Weakness of facial musculature	1134	CHRNA1	OMIM:608930
HP:0030319	Weakness of facial musculature	1134	CHRNA1	ORPHA:98913
HP:0030319	Weakness of facial musculature	4747	NEFL	OMIM:607684
HP:0030319	Weakness of facial musculature	825	CAPN3	OMIM:253600
HP:0030319	Weakness of facial musculature	57167	SALL4	OMIM:607323
HP:0030319	Weakness of facial musculature	79581	SLC52A2	OMIM:614707
HP:0030319	Weakness of facial musculature	10049	DNAJB6	OMIM:603511
HP:0030319	Weakness of facial musculature	1120	CHKB	OMIM:602541
HP:0030319	Weakness of facial musculature	57165	GJC2	OMIM:608804
HP:0030319	Weakness of facial musculature	29887	SNX10	OMIM:615085
HP:0030319	Weakness of facial musculature	7169	TPM2	ORPHA:171436
HP:0030319	Weakness of facial musculature	7169	TPM2	ORPHA:171881
HP:0030319	Weakness of facial musculature	4703	NEB	ORPHA:171436
HP:0030319	Weakness of facial musculature	4703	NEB	ORPHA:171433
HP:0030319	Weakness of facial musculature	4703	NEB	ORPHA:171430
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171436
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171433
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171430
HP:0030319	Weakness of facial musculature	1073	CFL2	ORPHA:171436
HP:0030319	Weakness of facial musculature	60482	SLC5A7	OMIM:617143
HP:0030319	Weakness of facial musculature	7084	TK2	ORPHA:254886
HP:0030319	Weakness of facial musculature	92667	MGME1	OMIM:615084
HP:0030319	Weakness of facial musculature	7170	TPM3	ORPHA:171433
HP:0030319	Weakness of facial musculature	7170	TPM3	ORPHA:171881
HP:0030319	Weakness of facial musculature	7170	TPM3	OMIM:255310
HP:0030319	Weakness of facial musculature	29998	BICRA	OMIM:619325
HP:0030319	Weakness of facial musculature	131377	KLHL40	ORPHA:171430
HP:0030319	Weakness of facial musculature	131377	KLHL40	OMIM:615348
HP:0030319	Weakness of facial musculature	9790	BMS1	ORPHA:1114
HP:0030319	Weakness of facial musculature	5339	PLEC	ORPHA:1114
HP:0030319	Weakness of facial musculature	10054	UBA2	ORPHA:1114
HP:0030319	Weakness of facial musculature	3691	ITGB4	ORPHA:1114
HP:0030319	Weakness of facial musculature	54567	DLL4	ORPHA:1114
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:3416
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:2790
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:178377
HP:0030319	Weakness of facial musculature	84466	MEGF10	OMIM:614399
HP:0030319	Weakness of facial musculature	55636	CHD7	ORPHA:138
HP:0030319	Weakness of facial musculature	55636	CHD7	OMIM:214800
HP:0030319	Weakness of facial musculature	9723	SEMA3E	ORPHA:138
HP:0030319	Weakness of facial musculature	3908	LAMA2	ORPHA:258
HP:0030319	Weakness of facial musculature	4625	MYH7	OMIM:160500
HP:0030319	Weakness of facial musculature	4625	MYH7	ORPHA:437572
HP:0030319	Weakness of facial musculature	389827	MYMK	ORPHA:1358
HP:0030319	Weakness of facial musculature	389827	MYMK	OMIM:254940
HP:0030319	Weakness of facial musculature	101929726	MYMX	ORPHA:1358
HP:0030319	Weakness of facial musculature	29925	GMPPB	ORPHA:353327
HP:0030319	Weakness of facial musculature	29925	GMPPB	ORPHA:370968
HP:0030319	Weakness of facial musculature	1798	DPAGT1	ORPHA:353327
HP:0030319	Weakness of facial musculature	85365	ALG2	ORPHA:353327
HP:0030319	Weakness of facial musculature	199857	ALG14	ORPHA:353327
HP:0030319	Weakness of facial musculature	427	ASAH1	OMIM:159950
HP:0030319	Weakness of facial musculature	79147	FKRP	ORPHA:370968
HP:0030319	Weakness of facial musculature	79147	FKRP	OMIM:606612
HP:0030319	Weakness of facial musculature	29954	POMT2	ORPHA:370968
HP:0030319	Weakness of facial musculature	29954	POMT2	OMIM:613156
HP:0030319	Weakness of facial musculature	9215	LARGE1	ORPHA:370968
HP:0030319	Weakness of facial musculature	9215	LARGE1	OMIM:608840
HP:0030319	Weakness of facial musculature	10585	POMT1	ORPHA:370968
HP:0030319	Weakness of facial musculature	10585	POMT1	OMIM:613155
HP:0030319	Weakness of facial musculature	57190	SELENON	OMIM:602771
HP:0030319	Weakness of facial musculature	51816	ADA2	OMIM:182410
HP:0030319	Weakness of facial musculature	5980	REV3L	ORPHA:570
HP:0030319	Weakness of facial musculature	23129	PLXND1	ORPHA:570
HP:0030319	Weakness of facial musculature	10735	STAG2	OMIM:301022
HP:0030319	Weakness of facial musculature	2483	FRG1	OMIM:158900
HP:0030319	Weakness of facial musculature	23347	SMCHD1	OMIM:158901
HP:0030319	Weakness of facial musculature	8878	SQSTM1	OMIM:617158
HP:0030319	Weakness of facial musculature	84665	MYPN	ORPHA:171881
HP:0030319	Weakness of facial musculature	84665	MYPN	OMIM:617336
HP:0030319	Weakness of facial musculature	10381	TUBB3	OMIM:600638
HP:0030319	Weakness of facial musculature	22954	TRIM32	OMIM:254110
HP:0030319	Weakness of facial musculature	56244	BTNL2	OMIM:612387
HP:0030319	Weakness of facial musculature	56244	BTNL2	ORPHA:797
HP:0030319	Weakness of facial musculature	29967	LRP12	OMIM:164310
HP:0030319	Weakness of facial musculature	10020	GNE	ORPHA:602
HP:0030319	Weakness of facial musculature	7020	TFAP2A	OMIM:113620
HP:0030319	Weakness of facial musculature	51651	PTRH2	ORPHA:456312
HP:0030319	Weakness of facial musculature	1303	COL12A1	OMIM:616470
HP:0030319	Weakness of facial musculature	7317	UBA1	OMIM:301830
HP:0030319	Weakness of facial musculature	390594	KBTBD13	OMIM:609273
HP:0030319	Weakness of facial musculature	139285	AMER1	ORPHA:2780
HP:0030319	Weakness of facial musculature	139285	AMER1	OMIM:300373
HP:0030319	Weakness of facial musculature	9531	BAG3	OMIM:612954
HP:0030319	Weakness of facial musculature	9244	CRLF1	OMIM:272430
HP:0030319	Weakness of facial musculature	113278	SLC52A3	OMIM:211530
HP:0030319	Weakness of facial musculature	3123	HLA-DRB1	ORPHA:797
HP:0030319	Weakness of facial musculature	84617	TUBB6	OMIM:617732
HP:0030319	Weakness of facial musculature	9791	PTDSS1	ORPHA:2658
HP:0030319	Weakness of facial musculature	8314	BAP1	ORPHA:2495
HP:0030319	Weakness of facial musculature	4771	NF2	ORPHA:2495
HP:0030319	Weakness of facial musculature	4771	NF2	ORPHA:637
HP:0030319	Weakness of facial musculature	6598	SMARCB1	ORPHA:2495
HP:0030319	Weakness of facial musculature	5155	PDGFB	ORPHA:2495
HP:0030319	Weakness of facial musculature	84231	TRAF7	ORPHA:2495
HP:0030319	Weakness of facial musculature	6608	SMO	ORPHA:2495
HP:0030319	Weakness of facial musculature	207	AKT1	ORPHA:2495
HP:0030319	Weakness of facial musculature	5290	PIK3CA	ORPHA:2495
HP:0030319	Weakness of facial musculature	7015	TERT	ORPHA:2495
HP:0030319	Weakness of facial musculature	51684	SUFU	ORPHA:2495
HP:0030319	Weakness of facial musculature	6605	SMARCE1	ORPHA:2495
HP:0030319	Weakness of facial musculature	3211	HOXB1	OMIM:614744
HP:0030319	Weakness of facial musculature	4534	MTM1	OMIM:310400
HP:0030319	Weakness of facial musculature	7040	TGFB1	ORPHA:1328
HP:0030319	Weakness of facial musculature	8085	KMT2D	OMIM:620186
HP:0030319	Weakness of facial musculature	80704	SLC19A3	OMIM:607483
HP:0030319	Weakness of facial musculature	147912	SIX5	ORPHA:107
HP:0030319	Weakness of facial musculature	8898	MTMR2	OMIM:601382
HP:0030319	Weakness of facial musculature	1785	DNM2	OMIM:160150
HP:0030319	Weakness of facial musculature	64419	MTMR14	OMIM:160150
HP:0030319	Weakness of facial musculature	2934	GSN	ORPHA:85448
HP:0030319	Weakness of facial musculature	23095	KIF1B	OMIM:118210
HP:0030319	Weakness of facial musculature	1674	DES	OMIM:601419
HP:0030319	Weakness of facial musculature	8292	COLQ	ORPHA:98915
HP:0030319	Weakness of facial musculature	3913	LAMB2	ORPHA:98915
HP:0030319	Weakness of facial musculature	6444	SGCD	ORPHA:219
HP:0030319	Weakness of facial musculature	23516	SLC39A14	OMIM:144755
HP:0030319	Weakness of facial musculature	8106	PABPN1	OMIM:164300
HP:0030319	Weakness of facial musculature	6329	SCN4A	ORPHA:98913
HP:0030319	Weakness of facial musculature	1140	CHRNB1	ORPHA:98913
HP:0030319	Weakness of facial musculature	1140	CHRNB1	OMIM:616313
HP:0030319	Weakness of facial musculature	5913	RAPSN	ORPHA:98913
HP:0030319	Weakness of facial musculature	375790	AGRN	ORPHA:98913
HP:0030319	Weakness of facial musculature	221264	AK9	ORPHA:98913
HP:0030319	Weakness of facial musculature	285489	DOK7	ORPHA:98913
HP:0030319	Weakness of facial musculature	55670	PEX26	ORPHA:772
HP:0030319	Weakness of facial musculature	5824	PEX19	ORPHA:772
HP:0030319	Weakness of facial musculature	5828	PEX2	ORPHA:772
HP:0030319	Weakness of facial musculature	8504	PEX3	ORPHA:772
HP:0030319	Weakness of facial musculature	9409	PEX16	ORPHA:772
HP:0030319	Weakness of facial musculature	5190	PEX6	ORPHA:772
HP:0030319	Weakness of facial musculature	8799	PEX11B	ORPHA:772
HP:0030319	Weakness of facial musculature	5830	PEX5	ORPHA:772
HP:0030319	Weakness of facial musculature	5189	PEX1	ORPHA:772
HP:0030319	Weakness of facial musculature	5193	PEX12	ORPHA:772
HP:0030319	Weakness of facial musculature	5194	PEX13	ORPHA:772
HP:0030319	Weakness of facial musculature	5195	PEX14	ORPHA:772
HP:0030319	Weakness of facial musculature	5192	PEX10	ORPHA:772
HP:0030319	Weakness of facial musculature	339855	KY	OMIM:617114
HP:0030319	Weakness of facial musculature	84168	ANTXR1	OMIM:230740
HP:0030319	Weakness of facial musculature	57731	SPTBN4	OMIM:617519
HP:0030319	Weakness of facial musculature	64127	NOD2	ORPHA:90340
HP:0030319	Weakness of facial musculature	8139	GAN	ORPHA:643
HP:0030319	Weakness of facial musculature	8139	GAN	OMIM:256850
HP:0030319	Weakness of facial musculature	28962	OSTM1	OMIM:259720
HP:0030319	Weakness of facial musculature	4633	MYL2	OMIM:619424
HP:0030319	Weakness of facial musculature	29089	UBE2T	OMIM:616435
HP:0030319	Weakness of facial musculature	203859	ANO5	OMIM:611307
HP:0030319	Weakness of facial musculature	203859	ANO5	ORPHA:206549
HP:0030319	Weakness of facial musculature	1861	TOR1A	OMIM:128100
HP:0030319	Weakness of facial musculature	59341	TRPV4	OMIM:181405
HP:0030319	Weakness of facial musculature	4556	MT-TE	ORPHA:2596
HP:0030319	Weakness of facial musculature	11198	SUPT16H	OMIM:619480
HP:0030319	Weakness of facial musculature	7516	XRCC2	OMIM:617247
HP:0030319	Weakness of facial musculature	3098	HK1	OMIM:618547
HP:0030319	Weakness of facial musculature	353116	RILPL1	OMIM:619790
HP:0030319	Weakness of facial musculature	253738	EBF3	OMIM:617330
HP:0030319	Weakness of facial musculature	55791	LRIF1	OMIM:619477
HP:0030319	Weakness of facial musculature	1789	DNMT3B	OMIM:619478
HP:0030319	Weakness of facial musculature	10755	GIPC1	OMIM:618940
HP:0030319	Weakness of facial musculature	10755	GIPC1	ORPHA:98897
HP:0030319	Weakness of facial musculature	4574	MT-TS1	OMIM:220110
HP:0030319	Weakness of facial musculature	4570	MT-TN	OMIM:220110
HP:0030319	Weakness of facial musculature	6834	SURF1	OMIM:220110
HP:0030319	Weakness of facial musculature	100996717	NOTCH2NLC	OMIM:619473
HP:0030319	Weakness of facial musculature	100996717	NOTCH2NLC	ORPHA:98897
HP:0030319	Weakness of facial musculature	35	ACADS	OMIM:201470
HP:0030319	Weakness of facial musculature	246243	RNASEH1	ORPHA:329336
HP:0030319	Weakness of facial musculature	57863	CADM3	OMIM:619519
HP:0030319	Weakness of facial musculature	2318	FLNC	ORPHA:63273
HP:0030319	Weakness of facial musculature	1639	DCTN1	OMIM:607641
HP:0030319	Weakness of facial musculature	7555	CNBP	OMIM:602668
HP:0030319	Weakness of facial musculature	3714	JAG2	OMIM:619566
HP:0030319	Weakness of facial musculature	101060691	NUTM2B-AS1	OMIM:618637
HP:0030319	Weakness of facial musculature	23529	CLCF1	OMIM:610313
HP:0030319	Weakness of facial musculature	9200	HACD1	OMIM:619967
HP:0030319	Weakness of facial musculature	9200	HACD1	ORPHA:2020
HP:0030319	Weakness of facial musculature	7125	TNNC2	OMIM:620161
HP:0030319	Weakness of facial musculature	10059	DNM1L	ORPHA:98673
HP:0030319	Weakness of facial musculature	4976	OPA1	ORPHA:98673
HP:0030319	Weakness of facial musculature	1146	CHRNG	OMIM:265000
HP:0030319	Weakness of facial musculature	122622	ADSS1	OMIM:617030
HP:0030319	Weakness of facial musculature	122622	ADSS1	ORPHA:482601
HP:0030319	Weakness of facial musculature	1621	DBH	OMIM:223360
HP:0030319	Weakness of facial musculature	64207	IRF2BPL	OMIM:618088
HP:0030319	Weakness of facial musculature	8565	YARS1	OMIM:619418
HP:0030319	Weakness of facial musculature	311	ANXA11	OMIM:619733
HP:0030319	Weakness of facial musculature	81846	SBF2	ORPHA:99956
HP:0030319	Weakness of facial musculature	1339	COX6A2	OMIM:619062
HP:0030319	Weakness of facial musculature	3679	ITGA7	ORPHA:2020
HP:0030319	Weakness of facial musculature	51776	MAP3K20	ORPHA:2020
HP:0030319	Weakness of facial musculature	11277	TREX1	ORPHA:247691
HP:0030319	Weakness of facial musculature	88	ACTN2	OMIM:618654
HP:0030319	Weakness of facial musculature	54332	GDAP1	ORPHA:99948
HP:0030319	Weakness of facial musculature	4632	MYL1	OMIM:618414
HP:0030319	Weakness of facial musculature	89874	SLC25A21	OMIM:618811
HP:0030319	Weakness of facial musculature	79731	NARS2	OMIM:616239
HP:0030319	Weakness of facial musculature	284439	SLC25A42	OMIM:618416
HP:0030319	Weakness of facial musculature	55154	MSTO1	ORPHA:502423
HP:0030319	Weakness of facial musculature	23345	SYNE1	ORPHA:319332
HP:0030318	Angular cheilitis	10804	GJB6	ORPHA:477
HP:0030318	Angular cheilitis	2706	GJB2	ORPHA:477
HP:0030318	Angular cheilitis	8029	CUBN	ORPHA:35858
HP:0030318	Angular cheilitis	81693	AMN	ORPHA:35858
HP:0030318	Angular cheilitis	1825	DSC3	OMIM:613102
HP:0030318	Angular cheilitis	3872	KRT17	OMIM:167210
HP:0030318	Angular cheilitis	3872	KRT17	ORPHA:2309
HP:0030318	Angular cheilitis	831	CAST	OMIM:616295
HP:0030318	Angular cheilitis	3868	KRT16	ORPHA:2309
HP:0030318	Angular cheilitis	3853	KRT6A	ORPHA:2309
HP:0030318	Angular cheilitis	3854	KRT6B	ORPHA:2309
HP:0030318	Angular cheilitis	6720	SREBF1	OMIM:619016
HP:0020100	Unusual fungal infection	4688	NCF2	OMIM:233710
HP:0020100	Unusual fungal infection	6804	STX1A	ORPHA:586
HP:0020100	Unusual fungal infection	2947	GSTM3	ORPHA:586
HP:0020100	Unusual fungal infection	2729	GCLC	ORPHA:586
HP:0020100	Unusual fungal infection	1084	CEACAM3	ORPHA:586
HP:0020100	Unusual fungal infection	6556	SLC11A1	ORPHA:586
HP:0020100	Unusual fungal infection	51164	DCTN4	ORPHA:586
HP:0020100	Unusual fungal infection	3783	KCNN4	ORPHA:586
HP:0020100	Unusual fungal infection	4282	MIF	ORPHA:586
HP:0020100	Unusual fungal infection	1909	EDNRA	ORPHA:586
HP:0020100	Unusual fungal infection	6550	SLC9A3	ORPHA:586
HP:0020100	Unusual fungal infection	3162	HMOX1	ORPHA:586
HP:0020100	Unusual fungal infection	115019	SLC26A9	ORPHA:586
HP:0020100	Unusual fungal infection	3077	HFE	ORPHA:586
HP:0020100	Unusual fungal infection	11254	SLC6A14	ORPHA:586
HP:0020100	Unusual fungal infection	5265	SERPINA1	ORPHA:586
HP:0020100	Unusual fungal infection	1080	CFTR	ORPHA:586
HP:0020100	Unusual fungal infection	22802	CLCA4	ORPHA:586
HP:0020100	Unusual fungal infection	4680	CEACAM6	ORPHA:586
HP:0020100	Unusual fungal infection	1536	CYBB	OMIM:306400
HP:0020100	Unusual fungal infection	653361	NCF1	OMIM:233700
HP:0020100	Unusual fungal infection	1535	CYBA	OMIM:233690
HP:0020100	Unusual fungal infection	57724	EPG5	OMIM:242840
HP:0020100	Unusual fungal infection	3689	ITGB2	OMIM:116920
HP:0020100	Unusual fungal infection	10043	TOM1	ORPHA:391487
HP:0020100	Unusual fungal infection	3572	IL6ST	OMIM:619752
HP:0020100	Unusual fungal infection	100	ADA	OMIM:102700
HP:0020100	Unusual fungal infection	5238	PGM3	OMIM:615816
HP:0020100	Unusual fungal infection	112744	IL17F	OMIM:613956
HP:0020100	Unusual fungal infection	3431	SP110	ORPHA:79124
HP:0020100	Unusual fungal infection	6720	SREBF1	OMIM:158310
HP:0020100	Unusual fungal infection	6774	STAT3	OMIM:147060
HP:0020100	Unusual fungal infection	5896	RAG1	OMIM:603554
HP:0020100	Unusual fungal infection	5896	RAG1	ORPHA:331206
HP:0020100	Unusual fungal infection	5897	RAG2	OMIM:603554
HP:0020100	Unusual fungal infection	5897	RAG2	ORPHA:331206
HP:0020100	Unusual fungal infection	2624	GATA2	OMIM:614172
HP:0020100	Unusual fungal infection	50619	DEF6	OMIM:619573
HP:0020100	Unusual fungal infection	10320	IKZF1	OMIM:616873
HP:0020100	Unusual fungal infection	7297	TYK2	OMIM:611521
HP:0020100	Unusual fungal infection	6789	STK4	OMIM:614868
HP:0020100	Unusual fungal infection	7535	ZAP70	OMIM:269840
HP:0020100	Unusual fungal infection	10804	GJB6	ORPHA:477
HP:0020100	Unusual fungal infection	2706	GJB2	ORPHA:477
HP:0020100	Unusual fungal infection	3575	IL7R	ORPHA:169154
HP:0020100	Unusual fungal infection	915	CD3D	ORPHA:169160
HP:0020100	Unusual fungal infection	916	CD3E	ORPHA:169160
HP:0020100	Unusual fungal infection	919	CD247	ORPHA:169160
HP:0020100	Unusual fungal infection	919	CD247	OMIM:610163
HP:0020100	Unusual fungal infection	5994	RFXAP	ORPHA:572
HP:0020100	Unusual fungal infection	4261	CIITA	ORPHA:572
HP:0020100	Unusual fungal infection	5993	RFX5	ORPHA:572
HP:0020100	Unusual fungal infection	8625	RFXANK	ORPHA:572
HP:0020100	Unusual fungal infection	55630	SLC39A4	OMIM:201100
HP:0020100	Unusual fungal infection	9841	ZBTB24	OMIM:614069
HP:0020100	Unusual fungal infection	686	BTD	ORPHA:79241
HP:0020100	Unusual fungal infection	3594	IL12RB1	ORPHA:319552
HP:0020100	Unusual fungal infection	81704	DOCK8	ORPHA:217390
HP:0020100	Unusual fungal infection	84905	ZNF341	OMIM:618282
HP:0020100	Unusual fungal infection	64421	DCLRE1C	ORPHA:275
HP:0020100	Unusual fungal infection	3551	IKBKB	OMIM:615592
HP:0020100	Unusual fungal infection	326	AIRE	OMIM:240300
HP:0020100	Unusual fungal infection	7037	TFRC	OMIM:616740
HP:0020100	Unusual fungal infection	4598	MVK	OMIM:260920
HP:0020100	Unusual fungal infection	3932	LCK	OMIM:615758
HP:0020100	Unusual fungal infection	959	CD40LG	OMIM:308230
HP:0020100	Unusual fungal infection	5293	PIK3CD	ORPHA:221139
HP:0020100	Unusual fungal infection	90417	KNSTRN	ORPHA:221139
HP:0020100	Unusual fungal infection	8546	AP3B1	OMIM:608233
HP:0020100	Unusual fungal infection	51311	TLR8	OMIM:301078
HP:0020100	Unusual fungal infection	9948	WDR1	OMIM:150550
HP:0020100	Unusual fungal infection	28755	TRAC	OMIM:615387
HP:0020100	Unusual fungal infection	11151	CORO1A	OMIM:615401
HP:0020100	Unusual fungal infection	1794	DOCK2	OMIM:616433
HP:0020100	Unusual fungal infection	917	CD3G	OMIM:615607
HP:0020100	Unusual fungal infection	3559	IL2RA	OMIM:606367
HP:0020100	Unusual fungal infection	3718	JAK3	ORPHA:35078
HP:0020100	Unusual fungal infection	6097	RORC	OMIM:616622
HP:0020100	Unusual fungal infection	3561	IL2RG	ORPHA:276
HP:0020100	Unusual fungal infection	84196	USP48	ORPHA:96253
HP:0020100	Unusual fungal infection	7157	TP53	ORPHA:96253
HP:0020100	Unusual fungal infection	9101	USP8	ORPHA:96253
HP:0020100	Unusual fungal infection	64072	CDH23	ORPHA:96253
HP:0020100	Unusual fungal infection	2908	NR3C1	ORPHA:96253
HP:0020100	Unusual fungal infection	673	BRAF	ORPHA:96253
HP:0020100	Unusual fungal infection	546	ATRX	ORPHA:96253
HP:0020100	Unusual fungal infection	23765	IL17RA	OMIM:613953
HP:0020100	Unusual fungal infection	64170	CARD9	OMIM:212050
HP:0020100	Unusual fungal infection	23534	TNPO3	ORPHA:186
HP:0020100	Unusual fungal infection	3592	IL12A	ORPHA:186
HP:0020100	Unusual fungal infection	6689	SPIB	ORPHA:186
HP:0020100	Unusual fungal infection	5450	POU2AF1	ORPHA:186
HP:0020100	Unusual fungal infection	9966	TNFSF15	ORPHA:186
HP:0020100	Unusual fungal infection	79258	MMEL1	ORPHA:186
HP:0020100	Unusual fungal infection	3663	IRF5	ORPHA:186
HP:0020100	Unusual fungal infection	146206	CARMIL2	OMIM:618131
HP:0020100	Unusual fungal infection	121214	SDR9C7	OMIM:617574
HP:0020100	Unusual fungal infection	3848	KRT1	ORPHA:530838
HP:0020100	Unusual fungal infection	4791	NFKB2	OMIM:615577
HP:0020100	Unusual fungal infection	79415	CYBC1	OMIM:618935
HP:0020100	Unusual fungal infection	84818	IL17RC	OMIM:616445
HP:0020100	Unusual fungal infection	545	ATR	OMIM:614564
HP:0020100	Unusual fungal infection	10758	TRAF3IP2	OMIM:615527
HP:0020100	Unusual fungal infection	3248	HPGD	ORPHA:217059
HP:0020100	Unusual fungal infection	5336	PLCG2	OMIM:614468
HP:0020100	Unusual fungal infection	64581	CLEC7A	OMIM:613108
HP:0020100	Unusual fungal infection	50615	IL21R	OMIM:615207
HP:0020100	Unusual fungal infection	84433	CARD11	OMIM:615206
HP:0020100	Unusual fungal infection	8517	IKBKG	OMIM:300636
HP:0020100	Unusual fungal infection	6772	STAT1	OMIM:614162
HP:0020100	Unusual fungal infection	7040	TGFB1	OMIM:618213
HP:0020102	Pneumocystis jirovecii pneumonia	51311	TLR8	OMIM:301078
HP:0020102	Pneumocystis jirovecii pneumonia	9841	ZBTB24	OMIM:614069
HP:0020102	Pneumocystis jirovecii pneumonia	50615	IL21R	OMIM:615207
HP:0020102	Pneumocystis jirovecii pneumonia	84433	CARD11	OMIM:615206
HP:0020102	Pneumocystis jirovecii pneumonia	8517	IKBKG	OMIM:300636
HP:0020104	Unusual protozoan infection	641	BLM	ORPHA:125
HP:0020104	Unusual protozoan infection	3594	IL12RB1	ORPHA:319552
HP:0020104	Unusual protozoan infection	4153	MBL2	OMIM:614372
HP:0020105	Severe toxoplasmosis	641	BLM	ORPHA:125
HP:0020105	Severe toxoplasmosis	3594	IL12RB1	ORPHA:319552
HP:0030320	Increased intervertebral space	2137	EXTL3	ORPHA:508533
HP:0030320	Increased intervertebral space	79639	TMEM53	OMIM:619727
HP:0030320	Increased intervertebral space	54	ACP5	OMIM:607944
HP:0030320	Increased intervertebral space	1836	SLC26A2	OMIM:256050
HP:0030320	Increased intervertebral space	5331	PLCB3	OMIM:618961
HP:0030320	Increased intervertebral space	59341	TRPV4	ORPHA:93314
HP:0004471	Aplasia cutis congenita over the scalp vertex	9790	BMS1	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	9790	BMS1	OMIM:107600
HP:0004471	Aplasia cutis congenita over the scalp vertex	5339	PLEC	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	10054	UBA2	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	3691	ITGB4	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	54567	DLL4	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	55784	MCTP2	ORPHA:1596
HP:0004471	Aplasia cutis congenita over the scalp vertex	999	CDH1	OMIM:119580
HP:0004472	Mandibular hyperostosis	207	AKT1	OMIM:176920
HP:0000239	Large fontanelles	9791	PTDSS1	OMIM:151050
HP:0000239	Large fontanelles	9791	PTDSS1	ORPHA:2658
HP:0000239	Large fontanelles	538	ATP7A	ORPHA:198
HP:0000239	Large fontanelles	3975	LHX1	ORPHA:261265
HP:0000239	Large fontanelles	6928	HNF1B	ORPHA:261265
HP:0000239	Large fontanelles	1182	CLCN3	OMIM:619512
HP:0000239	Large fontanelles	4598	MVK	ORPHA:29
HP:0000239	Large fontanelles	4598	MVK	OMIM:610377
HP:0000239	Large fontanelles	6711	SPTBN1	OMIM:619475
HP:0000239	Large fontanelles	8425	LTBP4	OMIM:613177
HP:0000239	Large fontanelles	3248	HPGD	OMIM:259100
HP:0000239	Large fontanelles	3248	HPGD	ORPHA:1525
HP:0000239	Large fontanelles	113189	CHST14	OMIM:601776
HP:0000239	Large fontanelles	113189	CHST14	ORPHA:2953
HP:0000239	Large fontanelles	267010	RNU12	OMIM:603116
HP:0000239	Large fontanelles	3636	INPPL1	OMIM:258480
HP:0000239	Large fontanelles	3636	INPPL1	ORPHA:2746
HP:0000239	Large fontanelles	8443	GNPAT	OMIM:222765
HP:0000239	Large fontanelles	4094	MAF	ORPHA:1272
HP:0000239	Large fontanelles	80816	ASXL3	OMIM:615485
HP:0000239	Large fontanelles	58	ACTA1	ORPHA:171430
HP:0000239	Large fontanelles	4703	NEB	ORPHA:171430
HP:0000239	Large fontanelles	4703	NEB	OMIM:619334
HP:0000239	Large fontanelles	131377	KLHL40	ORPHA:171430
HP:0000239	Large fontanelles	10324	KLHL41	ORPHA:171430
HP:0000239	Large fontanelles	56203	LMOD3	ORPHA:171430
HP:0000239	Large fontanelles	5831	PYCR1	OMIM:614438
HP:0000239	Large fontanelles	5831	PYCR1	OMIM:612940
HP:0000239	Large fontanelles	23729	SHPK	ORPHA:440713
HP:0000239	Large fontanelles	5832	ALDH18A1	OMIM:219150
HP:0000239	Large fontanelles	4000	LMNA	ORPHA:90153
HP:0000239	Large fontanelles	10651	MTX2	ORPHA:90153
HP:0000239	Large fontanelles	56975	FAM20C	ORPHA:1832
HP:0000239	Large fontanelles	56975	FAM20C	OMIM:259775
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95720
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95713
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95712
HP:0000239	Large fontanelles	7253	TSHR	ORPHA:95720
HP:0000239	Large fontanelles	7253	TSHR	ORPHA:95713
HP:0000239	Large fontanelles	5172	SLC26A4	ORPHA:95720
HP:0000239	Large fontanelles	5172	SLC26A4	ORPHA:95713
HP:0000239	Large fontanelles	8241	RBM10	ORPHA:2886
HP:0000239	Large fontanelles	8241	RBM10	OMIM:311900
HP:0000239	Large fontanelles	139285	AMER1	OMIM:300373
HP:0000239	Large fontanelles	139285	AMER1	ORPHA:2780
HP:0000239	Large fontanelles	1028	CDKN1C	OMIM:130650
HP:0000239	Large fontanelles	10984	KCNQ1OT1	OMIM:130650
HP:0000239	Large fontanelles	3481	IGF2	OMIM:130650
HP:0000239	Large fontanelles	3784	KCNQ1	OMIM:130650
HP:0000239	Large fontanelles	29940	DSE	ORPHA:2953
HP:0000239	Large fontanelles	7874	USP7	OMIM:616863
HP:0000239	Large fontanelles	7080	NKX2-1	ORPHA:95713
HP:0000239	Large fontanelles	1482	NKX2-5	ORPHA:95713
HP:0000239	Large fontanelles	1482	NKX2-5	ORPHA:95712
HP:0000239	Large fontanelles	2304	FOXE1	ORPHA:95713
HP:0000239	Large fontanelles	3295	HSD17B4	OMIM:261515
HP:0000239	Large fontanelles	57688	ZSWIM6	ORPHA:1827
HP:0000239	Large fontanelles	71	ACTG1	ORPHA:2995
HP:0000239	Large fontanelles	60	ACTB	ORPHA:2995
HP:0000239	Large fontanelles	3239	HOXD13	ORPHA:887
HP:0000239	Large fontanelles	9896	FIG4	OMIM:216340
HP:0000239	Large fontanelles	857	CAV1	OMIM:606721
HP:0000239	Large fontanelles	27031	NPHP3	OMIM:267010
HP:0000239	Large fontanelles	860	RUNX2	OMIM:119600
HP:0000239	Large fontanelles	860	RUNX2	ORPHA:1452
HP:0000239	Large fontanelles	5277	PIGA	OMIM:300868
HP:0000239	Large fontanelles	51025	PAM16	OMIM:613320
HP:0000239	Large fontanelles	79053	ALG8	OMIM:608104
HP:0000239	Large fontanelles	56052	ALG1	OMIM:608540
HP:0000239	Large fontanelles	2697	GJA1	OMIM:257850
HP:0000239	Large fontanelles	168667	BMPER	OMIM:608022
HP:0000239	Large fontanelles	10682	EBP	ORPHA:401973
HP:0000239	Large fontanelles	4921	DDR2	OMIM:271665
HP:0000239	Large fontanelles	5648	MASP1	OMIM:257920
HP:0000239	Large fontanelles	9526	MPDU1	OMIM:609180
HP:0000239	Large fontanelles	9526	MPDU1	ORPHA:79323
HP:0000239	Large fontanelles	1277	COL1A1	OMIM:259420
HP:0000239	Large fontanelles	1278	COL1A2	OMIM:259420
HP:0000239	Large fontanelles	5447	POR	ORPHA:95699
HP:0000239	Large fontanelles	5447	POR	OMIM:207410
HP:0000239	Large fontanelles	2737	GLI3	ORPHA:36
HP:0000239	Large fontanelles	374654	KIF7	ORPHA:36
HP:0000239	Large fontanelles	374654	KIF7	OMIM:200990
HP:0000239	Large fontanelles	4281	MID1	OMIM:300000
HP:0000239	Large fontanelles	4920	ROR2	OMIM:113000
HP:0000239	Large fontanelles	4920	ROR2	OMIM:268310
HP:0000239	Large fontanelles	2263	FGFR2	OMIM:207410
HP:0000239	Large fontanelles	169792	GLIS3	OMIM:610199
HP:0000239	Large fontanelles	6662	SOX9	OMIM:114290
HP:0000239	Large fontanelles	5189	PEX1	OMIM:214100
HP:0000239	Large fontanelles	5189	PEX1	ORPHA:44
HP:0000239	Large fontanelles	5189	PEX1	ORPHA:912
HP:0000239	Large fontanelles	29957	SLC25A24	ORPHA:2963
HP:0000239	Large fontanelles	29957	SLC25A24	OMIM:612289
HP:0000239	Large fontanelles	64175	P3H1	OMIM:610915
HP:0000239	Large fontanelles	170302	ARX	OMIM:300215
HP:0000239	Large fontanelles	25915	NDUFAF3	OMIM:618240
HP:0000239	Large fontanelles	8260	NAA10	OMIM:300855
HP:0000239	Large fontanelles	2261	FGFR3	ORPHA:1860
HP:0000239	Large fontanelles	2261	FGFR3	ORPHA:15
HP:0000239	Large fontanelles	2261	FGFR3	OMIM:616482
HP:0000239	Large fontanelles	1147	CHUK	OMIM:619339
HP:0000239	Large fontanelles	1009	CDH11	OMIM:619736
HP:0000239	Large fontanelles	7490	WT1	OMIM:194080
HP:0000239	Large fontanelles	9377	COX5A	OMIM:619064
HP:0000239	Large fontanelles	7703	PCGF2	OMIM:618371
HP:0000239	Large fontanelles	9401	RECQL4	OMIM:218600
HP:0000239	Large fontanelles	10484	SEC23A	OMIM:607812
HP:0000239	Large fontanelles	9509	ADAMTS2	OMIM:225410
HP:0000239	Large fontanelles	1301	COL11A1	OMIM:228520
HP:0000239	Large fontanelles	1301	COL11A1	ORPHA:2021
HP:0000239	Large fontanelles	79796	ALG9	OMIM:263210
HP:0000239	Large fontanelles	79796	ALG9	ORPHA:79328
HP:0000239	Large fontanelles	23545	ATP6V0A2	OMIM:278250
HP:0000239	Large fontanelles	23545	ATP6V0A2	OMIM:219200
HP:0000239	Large fontanelles	2475	MTOR	OMIM:616638
HP:0000239	Large fontanelles	79633	FAT4	OMIM:615546
HP:0000239	Large fontanelles	4036	LRP2	ORPHA:2143
HP:0000239	Large fontanelles	4036	LRP2	OMIM:222448
HP:0000239	Large fontanelles	1302	COL11A2	ORPHA:2021
HP:0000239	Large fontanelles	8642	DCHS1	OMIM:601390
HP:0000239	Large fontanelles	5193	PEX12	OMIM:614859
HP:0000239	Large fontanelles	5193	PEX12	ORPHA:44
HP:0000239	Large fontanelles	5193	PEX12	ORPHA:912
HP:0000239	Large fontanelles	3265	HRAS	OMIM:218040
HP:0000239	Large fontanelles	26040	SETBP1	ORPHA:798
HP:0000239	Large fontanelles	3981	LIG4	ORPHA:235
HP:0000239	Large fontanelles	54888	NSUN2	ORPHA:235
HP:0000239	Large fontanelles	145173	B3GLCT	OMIM:261540
HP:0000239	Large fontanelles	56006	SMG9	OMIM:616920
HP:0000239	Large fontanelles	1387	CREBBP	OMIM:180849
HP:0000239	Large fontanelles	2033	EP300	OMIM:180849
HP:0000239	Large fontanelles	5828	PEX2	OMIM:614866
HP:0000239	Large fontanelles	5828	PEX2	ORPHA:44
HP:0000239	Large fontanelles	5828	PEX2	ORPHA:912
HP:0000239	Large fontanelles	9091	PIGQ	OMIM:618548
HP:0000239	Large fontanelles	25839	COG4	OMIM:618150
HP:0000239	Large fontanelles	23405	DICER1	OMIM:618272
HP:0000239	Large fontanelles	285590	SH3PXD2B	OMIM:249420
HP:0000239	Large fontanelles	8318	CDC45	OMIM:617063
HP:0000239	Large fontanelles	28952	CCDC22	OMIM:300963
HP:0000239	Large fontanelles	55670	PEX26	OMIM:614872
HP:0000239	Large fontanelles	55670	PEX26	ORPHA:44
HP:0000239	Large fontanelles	55670	PEX26	ORPHA:912
HP:0000239	Large fontanelles	7291	TWIST1	OMIM:617746
HP:0000239	Large fontanelles	9968	MED12	OMIM:305450
HP:0000239	Large fontanelles	388015	RTL1	ORPHA:96334
HP:0000239	Large fontanelles	8788	DLK1	ORPHA:96334
HP:0000239	Large fontanelles	55384	MEG3	ORPHA:96334
HP:0000239	Large fontanelles	2316	FLNA	OMIM:304120
HP:0000239	Large fontanelles	63895	PIEZO2	OMIM:248700
HP:0000239	Large fontanelles	6497	SKI	OMIM:182212
HP:0000239	Large fontanelles	5824	PEX19	ORPHA:44
HP:0000239	Large fontanelles	5824	PEX19	OMIM:614886
HP:0000239	Large fontanelles	5824	PEX19	ORPHA:912
HP:0000239	Large fontanelles	8504	PEX3	ORPHA:44
HP:0000239	Large fontanelles	8504	PEX3	ORPHA:912
HP:0000239	Large fontanelles	9409	PEX16	ORPHA:44
HP:0000239	Large fontanelles	9409	PEX16	ORPHA:912
HP:0000239	Large fontanelles	5190	PEX6	ORPHA:44
HP:0000239	Large fontanelles	5190	PEX6	ORPHA:912
HP:0000239	Large fontanelles	8799	PEX11B	ORPHA:44
HP:0000239	Large fontanelles	8799	PEX11B	ORPHA:912
HP:0000239	Large fontanelles	5830	PEX5	ORPHA:44
HP:0000239	Large fontanelles	5830	PEX5	ORPHA:912
HP:0000239	Large fontanelles	5194	PEX13	ORPHA:44
HP:0000239	Large fontanelles	5194	PEX13	OMIM:614883
HP:0000239	Large fontanelles	5194	PEX13	ORPHA:912
HP:0000239	Large fontanelles	5195	PEX14	ORPHA:44
HP:0000239	Large fontanelles	5195	PEX14	ORPHA:912
HP:0000239	Large fontanelles	5192	PEX10	ORPHA:44
HP:0000239	Large fontanelles	5192	PEX10	ORPHA:912
HP:0000239	Large fontanelles	57020	VPS35L	OMIM:619135
HP:0000239	Large fontanelles	5528	PPP2R5D	ORPHA:457279
HP:0000239	Large fontanelles	10661	KLF1	OMIM:613673
HP:0000239	Large fontanelles	84168	ANTXR1	OMIM:230740
HP:0000239	Large fontanelles	10491	CRTAP	OMIM:610682
HP:0000239	Large fontanelles	4052	LTBP1	ORPHA:90349
HP:0000239	Large fontanelles	30008	EFEMP2	ORPHA:90349
HP:0000239	Large fontanelles	10516	FBLN5	ORPHA:90349
HP:0000239	Large fontanelles	10269	ZMPSTE24	OMIM:275210
HP:0000239	Large fontanelles	7474	WNT5A	OMIM:180700
HP:0000239	Large fontanelles	1855	DVL1	OMIM:180700
HP:0000239	Large fontanelles	56160	NSMCE3	OMIM:617241
HP:0000239	Large fontanelles	9742	IFT140	OMIM:266920
HP:0000239	Large fontanelles	10736	SIX2	ORPHA:488437
HP:0000239	Large fontanelles	25871	NEPRO	OMIM:618853
HP:0000239	Large fontanelles	27152	INTU	OMIM:617925
HP:0000239	Large fontanelles	7252	TSHB	OMIM:275100
HP:0000239	Large fontanelles	6888	TALDO1	OMIM:606003
HP:0000239	Large fontanelles	2108	ETFA	OMIM:231680
HP:0000239	Large fontanelles	2109	ETFB	OMIM:231680
HP:0000239	Large fontanelles	2110	ETFDH	OMIM:231680
HP:0000239	Large fontanelles	865	CBFB	OMIM:620099
HP:0000239	Large fontanelles	5626	PROP1	ORPHA:226307
HP:0000239	Large fontanelles	89884	LHX4	ORPHA:226307
HP:0000239	Large fontanelles	8022	LHX3	ORPHA:226307
HP:0000239	Large fontanelles	5449	POU1F1	ORPHA:226307
HP:0000239	Large fontanelles	8820	HESX1	ORPHA:226307
HP:0000239	Large fontanelles	405753	DUOXA2	ORPHA:95716
HP:0000239	Large fontanelles	6528	SLC5A5	ORPHA:95716
HP:0000239	Large fontanelles	7038	TG	ORPHA:95716
HP:0000239	Large fontanelles	7173	TPO	ORPHA:95716
HP:0000239	Large fontanelles	389434	IYD	ORPHA:95716
HP:0000239	Large fontanelles	50506	DUOX2	ORPHA:95716
HP:0000239	Large fontanelles	2879	GPX4	OMIM:250220
HP:0000239	Large fontanelles	183	AGT	OMIM:267430
HP:0000239	Large fontanelles	5972	REN	OMIM:267430
HP:0000239	Large fontanelles	185	AGTR1	OMIM:267430
HP:0000239	Large fontanelles	1636	ACE	OMIM:267430
HP:0000239	Large fontanelles	249	ALPL	OMIM:241500
HP:0000239	Large fontanelles	1594	CYP27B1	OMIM:264700
HP:0000239	Large fontanelles	142680	SLC34A3	OMIM:241530
HP:0000239	Large fontanelles	7421	VDR	OMIM:277440
HP:0000239	Large fontanelles	4488	MSX2	OMIM:168550
HP:0000239	Large fontanelles	120227	CYP2R1	OMIM:600081
HP:0000239	Large fontanelles	11128	POLR3A	OMIM:264090
HP:0000239	Large fontanelles	11128	POLR3A	ORPHA:3455
HP:0004474	Persistent open anterior fontanelle	1513	CTSK	ORPHA:763
HP:0004474	Persistent open anterior fontanelle	1513	CTSK	OMIM:265800
HP:0004474	Persistent open anterior fontanelle	5828	PEX2	OMIM:614866
HP:0004474	Persistent open anterior fontanelle	29123	ANKRD11	ORPHA:2332
HP:0004474	Persistent open anterior fontanelle	860	RUNX2	OMIM:119600
HP:0004474	Persistent open anterior fontanelle	2688	GH1	OMIM:262400
HP:0004474	Persistent open anterior fontanelle	538	ATP7A	OMIM:304150
HP:0004474	Persistent open anterior fontanelle	29940	DSE	OMIM:615539
HP:0004476	Aplasia cutis congenita over parietal area	57514	ARHGAP31	OMIM:100300
HP:0004478	Ethmoidal encephalocele	28514	DLL1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	2253	FGF8	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	6496	SIX3	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	7050	TGIF1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	4838	NODAL	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	6469	SHH	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	7546	ZIC2	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	6491	STIL	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	2619	GAS1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	84976	DISP1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	2736	GLI2	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	8928	FOXH1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	5727	PTCH1	ORPHA:280195
HP:0004478	Ethmoidal encephalocele	50937	CDON	ORPHA:280195
HP:0030325	Cervicomedullary schisis	392255	GDF6	OMIM:118100
HP:0030323	Unilateral vertebral artery hypoplasia	84667	HES7	OMIM:613686
HP:0030322	Vertebral artery hypoplasia	84667	HES7	OMIM:613686
HP:0030321	Abnormal vertebral artery morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030321	Abnormal vertebral artery morphology	84667	HES7	OMIM:613686
HP:0030321	Abnormal vertebral artery morphology	1289	COL5A1	OMIM:619329
HP:0030321	Abnormal vertebral artery morphology	4087	SMAD2	OMIM:619656
HP:0030329	Retinal thinning	3105	HLA-A	ORPHA:179
HP:0030329	Retinal thinning	1280	COL2A1	OMIM:132450
HP:0030329	Retinal thinning	1280	COL2A1	ORPHA:166011
HP:0030329	Retinal thinning	9699	RIMS2	OMIM:618970
HP:0030329	Retinal thinning	5130	PCYT1A	ORPHA:85167
HP:0030329	Retinal thinning	55624	POMGNT1	OMIM:617123
HP:0030329	Retinal thinning	284217	LAMA1	OMIM:615960
HP:0030329	Retinal thinning	285440	CYP4V2	ORPHA:41751
HP:0030329	Retinal thinning	8842	PROM1	ORPHA:827
HP:0030329	Retinal thinning	5961	PRPH2	ORPHA:827
HP:0030329	Retinal thinning	6785	ELOVL4	ORPHA:827
HP:0030329	Retinal thinning	24	ABCA4	ORPHA:827
HP:0030329	Retinal thinning	54714	CNGB3	ORPHA:827
HP:0030329	Retinal thinning	6295	SAG	OMIM:620228
HP:0030329	Retinal thinning	6295	SAG	ORPHA:215
HP:0030329	Retinal thinning	1261	CNGA3	OMIM:216900
HP:0030329	Retinal thinning	157657	CFAP418	OMIM:617406
HP:0030329	Retinal thinning	9371	KIF3B	OMIM:618955
HP:0030329	Retinal thinning	6533	SLC6A6	OMIM:145350
HP:0030329	Retinal thinning	4308	TRPM1	ORPHA:215
HP:0030329	Retinal thinning	57010	CABP4	ORPHA:215
HP:0030329	Retinal thinning	345193	LRIT3	ORPHA:215
HP:0030329	Retinal thinning	93589	CACNA2D4	ORPHA:215
HP:0030329	Retinal thinning	2916	GRM6	ORPHA:215
HP:0030329	Retinal thinning	5158	PDE6B	ORPHA:215
HP:0030329	Retinal thinning	440435	GPR179	ORPHA:215
HP:0030329	Retinal thinning	6011	GRK1	ORPHA:215
HP:0030329	Retinal thinning	778	CACNA1F	ORPHA:215
HP:0030329	Retinal thinning	6010	RHO	ORPHA:215
HP:0030329	Retinal thinning	9187	SLC24A1	ORPHA:215
HP:0030329	Retinal thinning	2784	GNB3	ORPHA:215
HP:0030329	Retinal thinning	2779	GNAT1	ORPHA:215
HP:0030329	Retinal thinning	60506	NYX	ORPHA:215
HP:0030329	Retinal thinning	224	ALDH3A2	OMIM:270200
HP:0030328	Decreased osteoclast count	8600	TNFSF11	OMIM:259710
HP:0030328	Decreased osteoclast count	28962	OSTM1	OMIM:259720
HP:0030327	Abnormal osteoclast count	8600	TNFSF11	OMIM:259710
HP:0030327	Abnormal osteoclast count	28962	OSTM1	OMIM:259720
HP:0020110	Bone fracture	6904	TBCD	ORPHA:496641
HP:0020110	Bone fracture	8878	SQSTM1	OMIM:167250
HP:0020110	Bone fracture	8792	TNFRSF11A	OMIM:602080
HP:0020110	Bone fracture	4507	MTAP	OMIM:112250
HP:0020110	Bone fracture	1186	CLCN7	OMIM:166600
HP:0020110	Bone fracture	202018	TAPT1	OMIM:616897
HP:0020110	Bone fracture	2131	EXT1	ORPHA:321
HP:0020110	Bone fracture	2132	EXT2	ORPHA:321
HP:0020110	Bone fracture	2592	GALT	ORPHA:79239
HP:0020110	Bone fracture	2778	GNAS	ORPHA:562
HP:0020110	Bone fracture	7317	UBA1	ORPHA:1145
HP:0020110	Bone fracture	6514	SLC2A2	ORPHA:2088
HP:0020110	Bone fracture	7841	MOGS	ORPHA:79330
HP:0020110	Bone fracture	8074	FGF23	ORPHA:89937
HP:0020110	Bone fracture	64682	ANAPC1	ORPHA:221008
HP:0020110	Bone fracture	3930	LBR	OMIM:215140
HP:0020110	Bone fracture	55503	TRPV6	OMIM:618188
HP:0020110	Bone fracture	25923	ATL3	OMIM:615632
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	84433	CARD11	OMIM:615206
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	56259	CTNNBL1	OMIM:619846
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5294	PIK3CG	OMIM:619802
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	3559	IL2RA	OMIM:606367
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	84433	CARD11	OMIM:615206
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	56259	CTNNBL1	OMIM:619846
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5294	PIK3CG	OMIM:619802
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	3559	IL2RA	OMIM:606367
HP:0020114	Persistent human papillomavirus infection	3574	IL7	OMIM:618309
HP:0020114	Persistent human papillomavirus infection	147138	TMC8	OMIM:618231
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3909	LAMA3	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3909	LAMA3	OMIM:619784
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3918	LAMC2	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3918	LAMC2	OMIM:619785
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3914	LAMB3	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3691	ITGB4	OMIM:619816
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3691	ITGB4	OMIM:226730
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1308	COL17A1	ORPHA:79406
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3655	ITGA6	OMIM:619817
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	5339	PLEC	OMIM:131950
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	5339	PLEC	OMIM:226730
HP:0020118	Radial artery aplasia	6135	RPL11	ORPHA:124
HP:0020118	Radial artery aplasia	6138	RPL15	ORPHA:124
HP:0020118	Radial artery aplasia	6229	RPS24	ORPHA:124
HP:0020118	Radial artery aplasia	6125	RPL5	ORPHA:124
HP:0020118	Radial artery aplasia	6204	RPS10	ORPHA:124
HP:0020118	Radial artery aplasia	6224	RPS20	ORPHA:124
HP:0020118	Radial artery aplasia	6165	RPL35A	ORPHA:124
HP:0020118	Radial artery aplasia	2623	GATA1	ORPHA:124
HP:0020118	Radial artery aplasia	6223	RPS19	ORPHA:124
HP:0020118	Radial artery aplasia	6232	RPS27	ORPHA:124
HP:0020118	Radial artery aplasia	6231	RPS26	ORPHA:124
HP:0020118	Radial artery aplasia	11224	RPL35	ORPHA:124
HP:0020118	Radial artery aplasia	6160	RPL31	ORPHA:124
HP:0020118	Radial artery aplasia	6218	RPS17	ORPHA:124
HP:0020118	Radial artery aplasia	6201	RPS7	ORPHA:124
HP:0020118	Radial artery aplasia	6155	RPL27	ORPHA:124
HP:0020118	Radial artery aplasia	6154	RPL26	ORPHA:124
HP:0020118	Radial artery aplasia	6210	RPS15A	ORPHA:124
HP:0020118	Radial artery aplasia	90121	TSR2	ORPHA:124
HP:0020118	Radial artery aplasia	6141	RPL18	ORPHA:124
HP:0020118	Radial artery aplasia	6235	RPS29	ORPHA:124
HP:0020118	Radial artery aplasia	6234	RPS28	ORPHA:124
HP:0020118	Radial artery aplasia	51816	ADA2	ORPHA:124
HP:0020119	Abnormal retinal nerve fiber layer morphology	1593	CYP27A1	ORPHA:909
HP:0020119	Abnormal retinal nerve fiber layer morphology	26278	SACS	ORPHA:98
HP:0020119	Abnormal retinal nerve fiber layer morphology	26278	SACS	OMIM:270550
HP:0020119	Abnormal retinal nerve fiber layer morphology	5159	PDGFRB	OMIM:601812
HP:0020119	Abnormal retinal nerve fiber layer morphology	4976	OPA1	ORPHA:1215
HP:0020119	Abnormal retinal nerve fiber layer morphology	84277	DNAJC30	OMIM:619382
HP:0004481	Progressive macrocephaly	4724	NDUFS4	OMIM:252010
HP:0004481	Progressive macrocephaly	2670	GFAP	OMIM:203450
HP:0004481	Progressive macrocephaly	2670	GFAP	ORPHA:363717
HP:0004481	Progressive macrocephaly	2639	GCDH	ORPHA:25
HP:0004481	Progressive macrocephaly	5290	PIK3CA	OMIM:615108
HP:0004481	Progressive macrocephaly	5290	PIK3CA	OMIM:602501
HP:0004481	Progressive macrocephaly	207	AKT1	OMIM:615109
HP:0004481	Progressive macrocephaly	5728	PTEN	OMIM:158350
HP:0004481	Progressive macrocephaly	3074	HEXB	ORPHA:309155
HP:0004484	Craniofacial asymmetry	4094	MAF	OMIM:601088
HP:0004484	Craniofacial asymmetry	53834	FGFRL1	OMIM:194190
HP:0004484	Craniofacial asymmetry	1487	CTBP1	OMIM:194190
HP:0004484	Craniofacial asymmetry	3954	LETM1	OMIM:194190
HP:0004484	Craniofacial asymmetry	7468	NSD2	OMIM:194190
HP:0004484	Craniofacial asymmetry	10815	CPLX1	OMIM:194190
HP:0004485	Cessation of head growth	1967	EIF2B1	OMIM:603896
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:98794
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:98795
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:411511
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:411515
HP:0004485	Cessation of head growth	4948	OCA2	ORPHA:98794
HP:0004485	Cessation of head growth	9373	PLAA	OMIM:617527
HP:0004485	Cessation of head growth	6638	SNRPN	ORPHA:411515
HP:0004485	Cessation of head growth	57194	ATP10A	ORPHA:411515
HP:0004487	Acrobrachycephaly	2263	FGFR2	ORPHA:87
HP:0004487	Acrobrachycephaly	2263	FGFR2	OMIM:101200
HP:0004488	Macrocephaly at birth	6567	SLC16A2	ORPHA:59
HP:0004488	Macrocephaly at birth	4953	ODC1	OMIM:619075
HP:0004488	Macrocephaly at birth	23556	PIGN	ORPHA:280633
HP:0004488	Macrocephaly at birth	274	BIN1	ORPHA:169189
HP:0004488	Macrocephaly at birth	64419	MTMR14	ORPHA:169189
HP:0004488	Macrocephaly at birth	4618	MYF6	ORPHA:169189
HP:0004488	Macrocephaly at birth	1785	DNM2	ORPHA:169189
HP:0004488	Macrocephaly at birth	6261	RYR1	ORPHA:169189
HP:0004488	Macrocephaly at birth	54914	FOCAD	OMIM:619991
HP:0000269	Prominent occiput	23019	CNOT1	OMIM:618500
HP:0000269	Prominent occiput	23019	CNOT1	ORPHA:556955
HP:0000269	Prominent occiput	28981	IFT81	OMIM:617895
HP:0000269	Prominent occiput	57061	HYMAI	ORPHA:96191
HP:0000269	Prominent occiput	5325	PLAGL1	ORPHA:96191
HP:0000269	Prominent occiput	56006	SMG9	OMIM:616920
HP:0000269	Prominent occiput	3265	HRAS	ORPHA:2612
HP:0000269	Prominent occiput	3845	KRAS	ORPHA:2612
HP:0000269	Prominent occiput	4893	NRAS	ORPHA:2612
HP:0000269	Prominent occiput	7291	TWIST1	OMIM:123100
HP:0000269	Prominent occiput	7291	TWIST1	ORPHA:35093
HP:0000269	Prominent occiput	100151683	RNU4ATAC	OMIM:210710
HP:0000269	Prominent occiput	100151683	RNU4ATAC	ORPHA:2636
HP:0000269	Prominent occiput	1861	TOR1A	OMIM:618947
HP:0000269	Prominent occiput	526	ATP6V1B2	ORPHA:79500
HP:0000269	Prominent occiput	57465	TBC1D24	ORPHA:79500
HP:0000269	Prominent occiput	2737	GLI3	ORPHA:36
HP:0000269	Prominent occiput	374654	KIF7	ORPHA:36
HP:0000269	Prominent occiput	374654	KIF7	OMIM:200990
HP:0000269	Prominent occiput	23556	PIGN	ORPHA:280633
HP:0000269	Prominent occiput	5649	RELN	ORPHA:89844
HP:0000269	Prominent occiput	10300	KATNB1	ORPHA:89844
HP:0000269	Prominent occiput	54820	NDE1	ORPHA:89844
HP:0000269	Prominent occiput	83737	ITCH	OMIM:613385
HP:0000269	Prominent occiput	83737	ITCH	ORPHA:228426
HP:0000269	Prominent occiput	10220	GDF11	OMIM:619122
HP:0000269	Prominent occiput	4849	CNOT3	OMIM:618672
HP:0000269	Prominent occiput	6911	TBX6	ORPHA:1797
HP:0000269	Prominent occiput	126792	B3GALT6	ORPHA:2725
HP:0000269	Prominent occiput	7841	MOGS	ORPHA:79330
HP:0000269	Prominent occiput	7841	MOGS	OMIM:606056
HP:0000269	Prominent occiput	57539	WDR35	ORPHA:1515
HP:0000269	Prominent occiput	112752	IFT43	ORPHA:1515
HP:0000269	Prominent occiput	51098	IFT52	ORPHA:1515
HP:0000269	Prominent occiput	55764	IFT122	ORPHA:1515
HP:0000269	Prominent occiput	57728	WDR19	ORPHA:1515
HP:0000269	Prominent occiput	9897	WASHC5	OMIM:220210
HP:0000269	Prominent occiput	9897	WASHC5	ORPHA:7
HP:0000269	Prominent occiput	4784	NFIX	OMIM:602535
HP:0000269	Prominent occiput	1513	CTSK	OMIM:265800
HP:0000269	Prominent occiput	1028	CDKN1C	OMIM:130650
HP:0000269	Prominent occiput	10984	KCNQ1OT1	OMIM:130650
HP:0000269	Prominent occiput	3481	IGF2	OMIM:130650
HP:0000269	Prominent occiput	3784	KCNQ1	OMIM:130650
HP:0000269	Prominent occiput	7021	TFAP2B	ORPHA:46627
HP:0000269	Prominent occiput	9968	MED12	ORPHA:93932
HP:0000269	Prominent occiput	134701	RIPPLY2	ORPHA:2311
HP:0000269	Prominent occiput	10683	DLL3	ORPHA:2311
HP:0000269	Prominent occiput	3955	LFNG	ORPHA:2311
HP:0000269	Prominent occiput	84667	HES7	ORPHA:2311
HP:0000269	Prominent occiput	145873	MESP2	ORPHA:2311
HP:0000269	Prominent occiput	1147	CHUK	OMIM:619339
HP:0000269	Prominent occiput	2317	FLNB	OMIM:108721
HP:0000269	Prominent occiput	23522	KAT6B	ORPHA:3047
HP:0000269	Prominent occiput	23522	KAT6B	OMIM:603736
HP:0000269	Prominent occiput	28952	CCDC22	ORPHA:7
HP:0000269	Prominent occiput	538	ATP7A	ORPHA:565
HP:0000269	Prominent occiput	55553	SOX6	OMIM:618971
HP:0000269	Prominent occiput	8621	CDK13	OMIM:617360
HP:0000269	Prominent occiput	5277	PIGA	OMIM:300868
HP:0000269	Prominent occiput	2702	GJA5	OMIM:612474
HP:0000269	Prominent occiput	2703	GJA8	OMIM:612474
HP:0000269	Prominent occiput	4613	MYCN	OMIM:164280
HP:0000269	Prominent occiput	2316	FLNA	OMIM:311300
HP:0000269	Prominent occiput	2077	ERF	ORPHA:35093
HP:0000269	Prominent occiput	60529	ALX4	ORPHA:35093
HP:0000269	Prominent occiput	4853	NOTCH2	ORPHA:955
HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage	2317	FLNB	OMIM:108720
HP:0030339	Decreased circulating gonadotropin concentration	10908	PNPLA6	OMIM:215470
HP:0030339	Decreased circulating gonadotropin concentration	2796	GNRH1	OMIM:614841
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	1363	CPE	OMIM:619326
HP:0030339	Decreased circulating gonadotropin concentration	2488	FSHB	OMIM:229070
HP:0030339	Decreased circulating gonadotropin concentration	3730	ANOS1	OMIM:308700
HP:0030339	Decreased circulating gonadotropin concentration	389549	FEZF1	OMIM:616030
HP:0030339	Decreased circulating gonadotropin concentration	5626	PROP1	OMIM:262600
HP:0030339	Decreased circulating gonadotropin concentration	5626	PROP1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	3972	LHB	OMIM:228300
HP:0030339	Decreased circulating gonadotropin concentration	23312	DMXL2	ORPHA:453533
HP:0030339	Decreased circulating gonadotropin concentration	59336	PRDM13	OMIM:619761
HP:0030339	Decreased circulating gonadotropin concentration	89884	LHX4	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	8022	LHX3	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	5449	POU1F1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	8820	HESX1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	5015	OTX2	OMIM:613986
HP:0030339	Decreased circulating gonadotropin concentration	4808	NHLH2	OMIM:619755
HP:0030339	Decreased circulating gonadotropin concentration	55366	LGR4	OMIM:619613
HP:0030339	Decreased circulating gonadotropin concentration	3814	KISS1	OMIM:614842
HP:0030339	Decreased circulating gonadotropin concentration	10371	SEMA3A	OMIM:614897
HP:0030339	Decreased circulating gonadotropin concentration	8314	BAP1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	4771	NF2	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6598	SMARCB1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	5155	PDGFB	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	84231	TRAF7	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6608	SMO	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	207	AKT1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	5290	PIK3CA	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	7015	TERT	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	51684	SUFU	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6605	SMARCE1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	84634	KISS1R	OMIM:614837
HP:0030339	Decreased circulating gonadotropin concentration	6866	TAC3	OMIM:614839
HP:0030338	Abnormal circulating gonadotropin concentration	340719	NANOS1	ORPHA:399808
HP:0030338	Abnormal circulating gonadotropin concentration	340719	NANOS1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	668	FOXL2	OMIM:110100
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	ORPHA:64739
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	OMIM:233300
HP:0030338	Abnormal circulating gonadotropin concentration	7490	WT1	ORPHA:347
HP:0030338	Abnormal circulating gonadotropin concentration	7490	WT1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	3973	LHCGR	OMIM:238320
HP:0030338	Abnormal circulating gonadotropin concentration	29893	PSMC3IP	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	171568	POLR3H	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	125150	ZSWIM7	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	9210	BMP15	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	57122	NUP107	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	23514	SPIDR	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	56945	MRPS22	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	646	BNC1	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2099	ESR1	ORPHA:785
HP:0030338	Abnormal circulating gonadotropin concentration	64072	CDH23	ORPHA:91347
HP:0030338	Abnormal circulating gonadotropin concentration	23395	LARS2	OMIM:615300
HP:0030338	Abnormal circulating gonadotropin concentration	2332	FMR1	OMIM:311360
HP:0030338	Abnormal circulating gonadotropin concentration	6736	SRY	ORPHA:1772
HP:0030338	Abnormal circulating gonadotropin concentration	6736	SRY	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	3295	HSD17B4	OMIM:233400
HP:0030338	Abnormal circulating gonadotropin concentration	6662	SOX9	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	6845	VAMP7	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	51741	WWOX	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	4214	MAP3K1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	58524	DMRT3	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	57647	DHX37	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	23414	ZFPM2	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	190	NR0B1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	2626	GATA4	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	5422	POLA1	ORPHA:163976
HP:0030338	Abnormal circulating gonadotropin concentration	56154	TEX15	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	56155	TEX14	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	7516	XRCC2	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	254528	MEIOB	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	91057	CCDC34	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	402381	SOHLH1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	317719	KLHL10	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	56159	TEX11	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	57697	FANCM	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	1080	CFTR	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	122402	TDRD9	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	154197	PNLDC1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	50511	SYCP3	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	1586	CYP17A1	ORPHA:90793
HP:0030338	Abnormal circulating gonadotropin concentration	50846	DHH	ORPHA:168563
HP:0030338	Abnormal circulating gonadotropin concentration	7555	CNBP	OMIM:602668
HP:0030338	Abnormal circulating gonadotropin concentration	254394	MCM9	OMIM:616185
HP:0030338	Abnormal circulating gonadotropin concentration	2074	ERCC6	OMIM:616946
HP:0030338	Abnormal circulating gonadotropin concentration	4439	MSH5	OMIM:617442
HP:0030338	Abnormal circulating gonadotropin concentration	158401	SHOC1	OMIM:619949
HP:0030338	Abnormal circulating gonadotropin concentration	2245	FGD1	OMIM:305400
HP:0030338	Abnormal circulating gonadotropin concentration	286053	NSMCE2	OMIM:617253
HP:0030338	Abnormal circulating gonadotropin concentration	1730	DIAPH2	OMIM:300511
HP:0030338	Abnormal circulating gonadotropin concentration	2100	ESR2	OMIM:618187
HP:0030338	Abnormal circulating gonadotropin concentration	1583	CYP11A1	ORPHA:168558
HP:0030338	Abnormal circulating gonadotropin concentration	1583	CYP11A1	ORPHA:289548
HP:0030338	Abnormal circulating gonadotropin concentration	8192	CLPP	OMIM:614129
HP:0030338	Abnormal circulating gonadotropin concentration	84515	MCM8	OMIM:612885
HP:0030338	Abnormal circulating gonadotropin concentration	1528	CYB5A	OMIM:250790
HP:0030338	Abnormal circulating gonadotropin concentration	1528	CYB5A	ORPHA:90796
HP:0030338	Abnormal circulating gonadotropin concentration	658	BMPR1B	OMIM:609441
HP:0030338	Abnormal circulating gonadotropin concentration	5447	POR	ORPHA:95699
HP:0030338	Abnormal circulating gonadotropin concentration	93953	GCNA	OMIM:301077
HP:0030338	Abnormal circulating gonadotropin concentration	2661	GDF9	OMIM:618014
HP:0030338	Abnormal circulating gonadotropin concentration	317761	C14orf39	OMIM:619203
HP:0030338	Abnormal circulating gonadotropin concentration	55012	PPP2R3C	OMIM:618419
HP:0030338	Abnormal circulating gonadotropin concentration	344018	FIGLA	OMIM:612310
HP:0030338	Abnormal circulating gonadotropin concentration	164045	HFM1	OMIM:615724
HP:0030338	Abnormal circulating gonadotropin concentration	10734	STAG3	OMIM:615723
HP:0030338	Abnormal circulating gonadotropin concentration	2488	FSHB	OMIM:229070
HP:0030338	Abnormal circulating gonadotropin concentration	10908	PNPLA6	OMIM:215470
HP:0030338	Abnormal circulating gonadotropin concentration	2796	GNRH1	OMIM:614841
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	1363	CPE	OMIM:619326
HP:0030338	Abnormal circulating gonadotropin concentration	3730	ANOS1	OMIM:308700
HP:0030338	Abnormal circulating gonadotropin concentration	389549	FEZF1	OMIM:616030
HP:0030338	Abnormal circulating gonadotropin concentration	5626	PROP1	OMIM:262600
HP:0030338	Abnormal circulating gonadotropin concentration	5626	PROP1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	3972	LHB	OMIM:228300
HP:0030338	Abnormal circulating gonadotropin concentration	23312	DMXL2	ORPHA:453533
HP:0030338	Abnormal circulating gonadotropin concentration	59336	PRDM13	OMIM:619761
HP:0030338	Abnormal circulating gonadotropin concentration	89884	LHX4	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	8022	LHX3	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	5449	POU1F1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	8820	HESX1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	5015	OTX2	OMIM:613986
HP:0030338	Abnormal circulating gonadotropin concentration	4808	NHLH2	OMIM:619755
HP:0030338	Abnormal circulating gonadotropin concentration	55366	LGR4	OMIM:619613
HP:0030338	Abnormal circulating gonadotropin concentration	3814	KISS1	OMIM:614842
HP:0030338	Abnormal circulating gonadotropin concentration	10371	SEMA3A	OMIM:614897
HP:0030338	Abnormal circulating gonadotropin concentration	8314	BAP1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	4771	NF2	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6598	SMARCB1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	5155	PDGFB	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	84231	TRAF7	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6608	SMO	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	207	AKT1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	5290	PIK3CA	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	7015	TERT	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	51684	SUFU	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6605	SMARCE1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	84634	KISS1R	OMIM:614837
HP:0030338	Abnormal circulating gonadotropin concentration	6866	TAC3	OMIM:614839
HP:0030338	Abnormal circulating gonadotropin concentration	6875	TAF4B	OMIM:615841
HP:0030338	Abnormal circulating gonadotropin concentration	84225	ZMYND15	OMIM:615842
HP:0030338	Abnormal circulating gonadotropin concentration	84733	CBX2	OMIM:613080
HP:0030338	Abnormal circulating gonadotropin concentration	8468	FKBP6	OMIM:620103
HP:0030338	Abnormal circulating gonadotropin concentration	93426	SYCE1	OMIM:616950
HP:0030338	Abnormal circulating gonadotropin concentration	367	AR	ORPHA:99429
HP:0030338	Abnormal circulating gonadotropin concentration	63901	FAM111A	ORPHA:93325
HP:0030338	Abnormal circulating gonadotropin concentration	4438	MSH4	OMIM:108420
HP:0020120	Retinal nerve fiber edema	84277	DNAJC30	OMIM:619382
HP:0020122	Bite cells	3783	KCNN4	OMIM:616689
HP:0020122	Bite cells	146059	CDAN1	OMIM:224120
HP:0020123	Tympanosclerosis	326	AIRE	OMIM:240300
HP:0020125	Spontaneous conjunctival filtering bleb	444	ASPH	OMIM:601552
HP:0020127	Periarticular soft-tissue mass	3373	HYAL1	OMIM:601492
HP:0020129	Abnormal urine protein level	25970	SH2B1	ORPHA:261222
HP:0020129	Abnormal urine protein level	4574	MT-TS1	OMIM:220110
HP:0020129	Abnormal urine protein level	4574	MT-TS1	ORPHA:550
HP:0020129	Abnormal urine protein level	4570	MT-TN	OMIM:220110
HP:0020129	Abnormal urine protein level	6834	SURF1	OMIM:220110
HP:0020129	Abnormal urine protein level	2132	EXT2	OMIM:616682
HP:0020129	Abnormal urine protein level	8029	CUBN	OMIM:261100
HP:0020129	Abnormal urine protein level	8029	CUBN	ORPHA:35858
HP:0020129	Abnormal urine protein level	8029	CUBN	OMIM:618884
HP:0020129	Abnormal urine protein level	4010	LMX1B	ORPHA:2613
HP:0020129	Abnormal urine protein level	4010	LMX1B	ORPHA:2614
HP:0020129	Abnormal urine protein level	4010	LMX1B	OMIM:161200
HP:0020129	Abnormal urine protein level	4010	LMX1B	OMIM:256020
HP:0020129	Abnormal urine protein level	55654	TMEM127	OMIM:171300
HP:0020129	Abnormal urine protein level	55654	TMEM127	ORPHA:29072
HP:0020129	Abnormal urine protein level	5979	RET	OMIM:171300
HP:0020129	Abnormal urine protein level	5979	RET	ORPHA:276621
HP:0020129	Abnormal urine protein level	5979	RET	ORPHA:29072
HP:0020129	Abnormal urine protein level	6390	SDHB	OMIM:171300
HP:0020129	Abnormal urine protein level	6390	SDHB	ORPHA:276621
HP:0020129	Abnormal urine protein level	6390	SDHB	ORPHA:29072
HP:0020129	Abnormal urine protein level	6392	SDHD	OMIM:171300
HP:0020129	Abnormal urine protein level	6392	SDHD	ORPHA:276621
HP:0020129	Abnormal urine protein level	6392	SDHD	ORPHA:29072
HP:0020129	Abnormal urine protein level	4149	MAX	OMIM:171300
HP:0020129	Abnormal urine protein level	4149	MAX	ORPHA:29072
HP:0020129	Abnormal urine protein level	7428	VHL	OMIM:171300
HP:0020129	Abnormal urine protein level	7428	VHL	ORPHA:276621
HP:0020129	Abnormal urine protein level	7428	VHL	ORPHA:29072
HP:0020129	Abnormal urine protein level	84334	COA8	ORPHA:436271
HP:0020129	Abnormal urine protein level	84942	WDR73	OMIM:251300
HP:0020129	Abnormal urine protein level	84942	WDR73	ORPHA:2065
HP:0020129	Abnormal urine protein level	4758	NEU1	OMIM:256550
HP:0020129	Abnormal urine protein level	2542	SLC37A4	OMIM:232220
HP:0020129	Abnormal urine protein level	2542	SLC37A4	OMIM:232240
HP:0020129	Abnormal urine protein level	2542	SLC37A4	ORPHA:79259
HP:0020129	Abnormal urine protein level	1161	ERCC8	ORPHA:90321
HP:0020129	Abnormal urine protein level	1161	ERCC8	OMIM:216400
HP:0020129	Abnormal urine protein level	2072	ERCC4	ORPHA:90321
HP:0020129	Abnormal urine protein level	2072	ERCC4	OMIM:610965
HP:0020129	Abnormal urine protein level	2074	ERCC6	ORPHA:90321
HP:0020129	Abnormal urine protein level	2074	ERCC6	OMIM:133540
HP:0020129	Abnormal urine protein level	23607	CD2AP	OMIM:607832
HP:0020129	Abnormal urine protein level	23607	CD2AP	ORPHA:656
HP:0020129	Abnormal urine protein level	396	ARHGDIA	OMIM:615244
HP:0020129	Abnormal urine protein level	396	ARHGDIA	ORPHA:656
HP:0020129	Abnormal urine protein level	3162	HMOX1	OMIM:614034
HP:0020129	Abnormal urine protein level	25959	KANK2	OMIM:617783
HP:0020129	Abnormal urine protein level	65082	VPS33A	OMIM:617303
HP:0020129	Abnormal urine protein level	65082	VPS33A	ORPHA:505248
HP:0020129	Abnormal urine protein level	6595	SMARCA2	ORPHA:2728
HP:0020129	Abnormal urine protein level	8526	DGKE	OMIM:615008
HP:0020129	Abnormal urine protein level	79693	YRDC	OMIM:619609
HP:0020129	Abnormal urine protein level	4868	NPHS1	OMIM:256300
HP:0020129	Abnormal urine protein level	4868	NPHS1	ORPHA:839
HP:0020129	Abnormal urine protein level	4868	NPHS1	ORPHA:656
HP:0020129	Abnormal urine protein level	81693	AMN	ORPHA:35858
HP:0020129	Abnormal urine protein level	81693	AMN	OMIM:618882
HP:0020129	Abnormal urine protein level	10559	SLC35A1	OMIM:603585
HP:0020129	Abnormal urine protein level	7827	NPHS2	OMIM:600995
HP:0020129	Abnormal urine protein level	7827	NPHS2	ORPHA:656
HP:0020129	Abnormal urine protein level	1777	DNASE2	OMIM:619858
HP:0020129	Abnormal urine protein level	2538	G6PC1	OMIM:232200
HP:0020129	Abnormal urine protein level	6773	STAT2	OMIM:618886
HP:0020129	Abnormal urine protein level	1801	DPH1	OMIM:616901
HP:0020129	Abnormal urine protein level	84823	LMNB2	ORPHA:79087
HP:0020129	Abnormal urine protein level	84823	LMNB2	OMIM:608709
HP:0020129	Abnormal urine protein level	1788	DNMT3A	ORPHA:276621
HP:0020129	Abnormal urine protein level	2034	EPAS1	ORPHA:276621
HP:0020129	Abnormal urine protein level	83480	PUS3	ORPHA:488627
HP:0020129	Abnormal urine protein level	7490	WT1	OMIM:136680
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:347
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:220
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:656
HP:0020129	Abnormal urine protein level	63894	VIPAS39	OMIM:613404
HP:0020129	Abnormal urine protein level	4036	LRP2	ORPHA:2143
HP:0020129	Abnormal urine protein level	4036	LRP2	OMIM:222448
HP:0020129	Abnormal urine protein level	950	SCARB2	OMIM:254900
HP:0020129	Abnormal urine protein level	950	SCARB2	ORPHA:77259
HP:0020129	Abnormal urine protein level	54	ACP5	ORPHA:1855
HP:0020129	Abnormal urine protein level	5373	PMM2	OMIM:212065
HP:0020129	Abnormal urine protein level	5373	PMM2	ORPHA:79318
HP:0020129	Abnormal urine protein level	4069	LYZ	OMIM:105200
HP:0020129	Abnormal urine protein level	2243	FGA	OMIM:105200
HP:0020129	Abnormal urine protein level	335	APOA1	OMIM:105200
HP:0020129	Abnormal urine protein level	567	B2M	OMIM:105200
HP:0020129	Abnormal urine protein level	9056	SLC7A7	ORPHA:470
HP:0020129	Abnormal urine protein level	116085	SLC22A12	OMIM:220150
HP:0020129	Abnormal urine protein level	5972	REN	OMIM:613092
HP:0020129	Abnormal urine protein level	8879	SGPL1	OMIM:617575
HP:0020129	Abnormal urine protein level	11277	TREX1	OMIM:192315
HP:0020129	Abnormal urine protein level	11277	TREX1	ORPHA:247691
HP:0020129	Abnormal urine protein level	1743	DLST	ORPHA:29072
HP:0020129	Abnormal urine protein level	4191	MDH2	ORPHA:29072
HP:0020129	Abnormal urine protein level	6389	SDHA	ORPHA:29072
HP:0020129	Abnormal urine protein level	23095	KIF1B	ORPHA:29072
HP:0020129	Abnormal urine protein level	2271	FH	ORPHA:29072
HP:0020129	Abnormal urine protein level	8402	SLC25A11	ORPHA:29072
HP:0020129	Abnormal urine protein level	54949	SDHAF2	ORPHA:29072
HP:0020129	Abnormal urine protein level	4763	NF1	ORPHA:29072
HP:0020129	Abnormal urine protein level	6391	SDHC	ORPHA:29072
HP:0020129	Abnormal urine protein level	2321	FLT1	ORPHA:275555
HP:0020129	Abnormal urine protein level	219736	STOX1	ORPHA:275555
HP:0020129	Abnormal urine protein level	10699	CORIN	ORPHA:275555
HP:0020129	Abnormal urine protein level	6804	STX1A	ORPHA:904
HP:0020129	Abnormal urine protein level	7461	CLIP2	ORPHA:904
HP:0020129	Abnormal urine protein level	84277	DNAJC30	ORPHA:904
HP:0020129	Abnormal urine protein level	8468	FKBP6	ORPHA:904
HP:0020129	Abnormal urine protein level	5982	RFC2	ORPHA:904
HP:0020129	Abnormal urine protein level	2969	GTF2I	ORPHA:904
HP:0020129	Abnormal urine protein level	3984	LIMK1	ORPHA:904
HP:0020129	Abnormal urine protein level	9569	GTF2IRD1	ORPHA:904
HP:0020129	Abnormal urine protein level	155382	VPS37D	ORPHA:904
HP:0020129	Abnormal urine protein level	155368	METTL27	ORPHA:904
HP:0020129	Abnormal urine protein level	114049	BUD23	ORPHA:904
HP:0020129	Abnormal urine protein level	7458	EIF4H	ORPHA:904
HP:0020129	Abnormal urine protein level	84163	GTF2IRD2	ORPHA:904
HP:0020129	Abnormal urine protein level	9275	BCL7B	ORPHA:904
HP:0020129	Abnormal urine protein level	26608	TBL2	ORPHA:904
HP:0020129	Abnormal urine protein level	653361	NCF1	ORPHA:904
HP:0020129	Abnormal urine protein level	135886	TMEM270	ORPHA:904
HP:0020129	Abnormal urine protein level	51085	MLXIPL	ORPHA:904
HP:0020129	Abnormal urine protein level	9031	BAZ1B	ORPHA:904
HP:0020129	Abnormal urine protein level	2006	ELN	ORPHA:904
HP:0020129	Abnormal urine protein level	1493	CTLA4	ORPHA:900
HP:0020129	Abnormal urine protein level	26191	PTPN22	ORPHA:900
HP:0020129	Abnormal urine protein level	3115	HLA-DPB1	ORPHA:900
HP:0020129	Abnormal urine protein level	5657	PRTN3	ORPHA:900
HP:0020129	Abnormal urine protein level	3113	HLA-DPA1	ORPHA:900
HP:0020129	Abnormal urine protein level	3675	ITGA3	OMIM:614748
HP:0020129	Abnormal urine protein level	4567	MT-TL1	ORPHA:225
HP:0020129	Abnormal urine protein level	4567	MT-TL1	ORPHA:550
HP:0020129	Abnormal urine protein level	4556	MT-TE	ORPHA:225
HP:0020129	Abnormal urine protein level	4566	MT-TK	ORPHA:225
HP:0020129	Abnormal urine protein level	4210	MEFV	ORPHA:342
HP:0020129	Abnormal urine protein level	4210	MEFV	OMIM:134610
HP:0020129	Abnormal urine protein level	3931	LCAT	OMIM:245900
HP:0020129	Abnormal urine protein level	4094	MAF	ORPHA:1272
HP:0020129	Abnormal urine protein level	2934	GSN	ORPHA:85448
HP:0020129	Abnormal urine protein level	3913	LAMB2	OMIM:614199
HP:0020129	Abnormal urine protein level	3913	LAMB2	OMIM:609049
HP:0020129	Abnormal urine protein level	5800	PTPRO	OMIM:614196
HP:0020129	Abnormal urine protein level	5800	PTPRO	ORPHA:656
HP:0020129	Abnormal urine protein level	6288	SAA1	ORPHA:85445
HP:0020129	Abnormal urine protein level	50485	SMARCAL1	ORPHA:1830
HP:0020129	Abnormal urine protein level	50485	SMARCAL1	OMIM:242900
HP:0020129	Abnormal urine protein level	8481	OFD1	OMIM:311200
HP:0020129	Abnormal urine protein level	8481	OFD1	ORPHA:2750
HP:0020129	Abnormal urine protein level	10253	SPRY2	OMIM:616818
HP:0020129	Abnormal urine protein level	540	ATP7B	OMIM:277900
HP:0020129	Abnormal urine protein level	4846	NOS3	OMIM:189800
HP:0020129	Abnormal urine protein level	2717	GLA	OMIM:301500
HP:0020129	Abnormal urine protein level	2717	GLA	ORPHA:324
HP:0020129	Abnormal urine protein level	3172	HNF4A	OMIM:616026
HP:0020129	Abnormal urine protein level	3172	HNF4A	ORPHA:263455
HP:0020129	Abnormal urine protein level	25836	NIPBL	OMIM:122470
HP:0020129	Abnormal urine protein level	2303	FOXC2	ORPHA:33001
HP:0020129	Abnormal urine protein level	5836	PYGL	ORPHA:369
HP:0020129	Abnormal urine protein level	51196	PLCE1	OMIM:610725
HP:0020129	Abnormal urine protein level	51196	PLCE1	ORPHA:656
HP:0020129	Abnormal urine protein level	2629	GBA1	ORPHA:77261
HP:0020129	Abnormal urine protein level	2629	GBA1	ORPHA:77259
HP:0020129	Abnormal urine protein level	54443	ANLN	OMIM:616032
HP:0020129	Abnormal urine protein level	54443	ANLN	ORPHA:656
HP:0020129	Abnormal urine protein level	51004	COQ6	OMIM:614650
HP:0020129	Abnormal urine protein level	7535	ZAP70	OMIM:617006
HP:0020129	Abnormal urine protein level	57107	PDSS2	OMIM:614652
HP:0020129	Abnormal urine protein level	81603	TRIM8	OMIM:619428
HP:0020129	Abnormal urine protein level	1188	CLCNKB	ORPHA:358
HP:0020129	Abnormal urine protein level	6559	SLC12A3	ORPHA:358
HP:0020129	Abnormal urine protein level	1288	COL4A6	ORPHA:1018
HP:0020129	Abnormal urine protein level	1287	COL4A5	ORPHA:1018
HP:0020129	Abnormal urine protein level	1287	COL4A5	OMIM:301050
HP:0020129	Abnormal urine protein level	4558	MT-TF	ORPHA:550
HP:0020129	Abnormal urine protein level	4572	MT-TQ	ORPHA:550
HP:0020129	Abnormal urine protein level	4512	MT-CO1	ORPHA:550
HP:0020129	Abnormal urine protein level	4513	MT-CO2	ORPHA:550
HP:0020129	Abnormal urine protein level	4514	MT-CO3	ORPHA:550
HP:0020129	Abnormal urine protein level	4578	MT-TW	ORPHA:550
HP:0020129	Abnormal urine protein level	4540	MT-ND5	ORPHA:550
HP:0020129	Abnormal urine protein level	4541	MT-ND6	ORPHA:550
HP:0020129	Abnormal urine protein level	4535	MT-ND1	ORPHA:550
HP:0020129	Abnormal urine protein level	4538	MT-ND4	ORPHA:550
HP:0020129	Abnormal urine protein level	4575	MT-TS2	ORPHA:550
HP:0020129	Abnormal urine protein level	4564	MT-TH	ORPHA:550
HP:0020129	Abnormal urine protein level	10785	WDR4	OMIM:618347
HP:0020129	Abnormal urine protein level	10785	WDR4	ORPHA:2065
HP:0020129	Abnormal urine protein level	57122	NUP107	OMIM:618348
HP:0020129	Abnormal urine protein level	57122	NUP107	OMIM:616730
HP:0020129	Abnormal urine protein level	57122	NUP107	ORPHA:656
HP:0020129	Abnormal urine protein level	57122	NUP107	ORPHA:2065
HP:0020129	Abnormal urine protein level	55746	NUP133	OMIM:618349
HP:0020129	Abnormal urine protein level	55746	NUP133	ORPHA:656
HP:0020129	Abnormal urine protein level	55746	NUP133	OMIM:618177
HP:0020129	Abnormal urine protein level	55746	NUP133	ORPHA:2065
HP:0020129	Abnormal urine protein level	4179	CD46	OMIM:612922
HP:0020129	Abnormal urine protein level	4179	CD46	ORPHA:244242
HP:0020129	Abnormal urine protein level	6775	STAT4	ORPHA:93552
HP:0020129	Abnormal urine protein level	6696	SPP1	ORPHA:93552
HP:0020129	Abnormal urine protein level	3654	IRAK1	ORPHA:93552
HP:0020129	Abnormal urine protein level	629	CFB	OMIM:612924
HP:0020129	Abnormal urine protein level	3426	CFI	OMIM:612923
HP:0020129	Abnormal urine protein level	3426	CFI	ORPHA:244242
HP:0020129	Abnormal urine protein level	1776	DNASE1L3	ORPHA:36412
HP:0020129	Abnormal urine protein level	7056	THBD	OMIM:612926
HP:0020129	Abnormal urine protein level	718	C3	OMIM:612925
HP:0020129	Abnormal urine protein level	55243	KIRREL1	OMIM:619201
HP:0020129	Abnormal urine protein level	9342	SNAP29	ORPHA:66631
HP:0020129	Abnormal urine protein level	11093	ADAMTS13	OMIM:274150
HP:0020129	Abnormal urine protein level	5625	PRODH	ORPHA:419
HP:0020129	Abnormal urine protein level	9688	NUP93	ORPHA:656
HP:0020129	Abnormal urine protein level	4643	MYO1E	ORPHA:656
HP:0020129	Abnormal urine protein level	4643	MYO1E	OMIM:614131
HP:0020129	Abnormal urine protein level	64423	INF2	ORPHA:656
HP:0020129	Abnormal urine protein level	64423	INF2	OMIM:613237
HP:0020129	Abnormal urine protein level	64423	INF2	OMIM:614455
HP:0020129	Abnormal urine protein level	26130	GAPVD1	ORPHA:656
HP:0020129	Abnormal urine protein level	51479	ANKFY1	ORPHA:656
HP:0020129	Abnormal urine protein level	286204	CRB2	ORPHA:656
HP:0020129	Abnormal urine protein level	23165	NUP205	ORPHA:656
HP:0020129	Abnormal urine protein level	2013	EMP2	ORPHA:656
HP:0020129	Abnormal urine protein level	79023	NUP37	ORPHA:656
HP:0020129	Abnormal urine protein level	79902	NUP85	ORPHA:656
HP:0020129	Abnormal urine protein level	79902	NUP85	OMIM:618176
HP:0020129	Abnormal urine protein level	1285	COL4A3	ORPHA:656
HP:0020129	Abnormal urine protein level	1285	COL4A3	OMIM:203780
HP:0020129	Abnormal urine protein level	1285	COL4A3	OMIM:104200
HP:0020129	Abnormal urine protein level	79934	COQ8B	ORPHA:656
HP:0020129	Abnormal urine protein level	79934	COQ8B	OMIM:615573
HP:0020129	Abnormal urine protein level	23279	NUP160	ORPHA:656
HP:0020129	Abnormal urine protein level	23279	NUP160	OMIM:618178
HP:0020129	Abnormal urine protein level	9863	MAGI2	ORPHA:656
HP:0020129	Abnormal urine protein level	9863	MAGI2	OMIM:617609
HP:0020129	Abnormal urine protein level	81	ACTN4	ORPHA:656
HP:0020129	Abnormal urine protein level	81	ACTN4	OMIM:603278
HP:0020129	Abnormal urine protein level	7225	TRPC6	ORPHA:656
HP:0020129	Abnormal urine protein level	7225	TRPC6	OMIM:603965
HP:0020129	Abnormal urine protein level	8542	APOL1	ORPHA:656
HP:0020129	Abnormal urine protein level	54885	TBC1D8B	ORPHA:656
HP:0020129	Abnormal urine protein level	54885	TBC1D8B	OMIM:301028
HP:0020129	Abnormal urine protein level	83478	ARHGAP24	ORPHA:656
HP:0020129	Abnormal urine protein level	23500	DAAM2	ORPHA:656
HP:0020129	Abnormal urine protein level	9663	LPIN2	ORPHA:77297
HP:0020129	Abnormal urine protein level	27235	COQ2	OMIM:607426
HP:0020129	Abnormal urine protein level	6928	HNF1B	OMIM:137920
HP:0020129	Abnormal urine protein level	5277	PIGA	ORPHA:447
HP:0020129	Abnormal urine protein level	55644	OSGEP	OMIM:617729
HP:0020129	Abnormal urine protein level	55644	OSGEP	ORPHA:2065
HP:0020129	Abnormal urine protein level	27031	NPHP3	OMIM:604387
HP:0020129	Abnormal urine protein level	26160	IFT172	OMIM:619471
HP:0020129	Abnormal urine protein level	112858	TP53RK	OMIM:617730
HP:0020129	Abnormal urine protein level	112858	TP53RK	ORPHA:2065
HP:0020129	Abnormal urine protein level	8270	LAGE3	OMIM:301006
HP:0020129	Abnormal urine protein level	8270	LAGE3	ORPHA:2065
HP:0020129	Abnormal urine protein level	1286	COL4A4	OMIM:203780
HP:0020129	Abnormal urine protein level	51002	TPRKB	OMIM:617731
HP:0020129	Abnormal urine protein level	51002	TPRKB	ORPHA:2065
HP:0020129	Abnormal urine protein level	2335	FN1	ORPHA:84090
HP:0020129	Abnormal urine protein level	2335	FN1	OMIM:601894
HP:0020129	Abnormal urine protein level	9935	MAFB	ORPHA:2774
HP:0020129	Abnormal urine protein level	9935	MAFB	OMIM:166300
HP:0020129	Abnormal urine protein level	23630	KCNE5	ORPHA:86818
HP:0020129	Abnormal urine protein level	2182	ACSL4	ORPHA:86818
HP:0020129	Abnormal urine protein level	9949	AMMECR1	ORPHA:86818
HP:0020129	Abnormal urine protein level	100147744	RNU7-1	OMIM:619487
HP:0020129	Abnormal urine protein level	10651	MTX2	OMIM:619127
HP:0020129	Abnormal urine protein level	3075	CFH	ORPHA:244242
HP:0020129	Abnormal urine protein level	101101692	HELLPAR	ORPHA:244242
HP:0020129	Abnormal urine protein level	2625	GATA3	OMIM:146255
HP:0020129	Abnormal urine protein level	353	APRT	ORPHA:976
HP:0020129	Abnormal urine protein level	55898	UNC45A	OMIM:619377
HP:0020129	Abnormal urine protein level	348	APOE	OMIM:611771
HP:0020129	Abnormal urine protein level	4853	NOTCH2	OMIM:610205
HP:0020129	Abnormal urine protein level	8516	ITGA8	OMIM:191830
HP:0020129	Abnormal urine protein level	9051	PSTPIP1	ORPHA:69126
HP:0020129	Abnormal urine protein level	57728	WDR19	OMIM:614376
HP:0020129	Abnormal urine protein level	57728	WDR19	OMIM:614377
HP:0020129	Abnormal urine protein level	4627	MYH9	ORPHA:182050
HP:0020129	Abnormal urine protein level	54938	SARS2	OMIM:613845
HP:0020129	Abnormal urine protein level	26276	VPS33B	OMIM:620010
HP:0020129	Abnormal urine protein level	25974	MMACHC	OMIM:277400
HP:0020129	Abnormal urine protein level	5052	PRDX1	OMIM:277400
HP:0020129	Abnormal urine protein level	22909	FAN1	OMIM:614817
HP:0020129	Abnormal urine protein level	1497	CTNS	OMIM:219800
HP:0020129	Abnormal urine protein level	1497	CTNS	ORPHA:411634
HP:0020129	Abnormal urine protein level	1497	CTNS	ORPHA:411629
HP:0020129	Abnormal urine protein level	4952	OCRL	OMIM:300555
HP:0020129	Abnormal urine protein level	4952	OCRL	OMIM:309000
HP:0020129	Abnormal urine protein level	1184	CLCN5	OMIM:300554
HP:0020129	Abnormal urine protein level	1184	CLCN5	OMIM:300009
HP:0020129	Abnormal urine protein level	1184	CLCN5	OMIM:310468
HP:0020129	Abnormal urine protein level	1184	CLCN5	OMIM:308990
HP:0020129	Abnormal urine protein level	2628	GATM	OMIM:134600
HP:0020129	Abnormal urine protein level	2628	GATM	ORPHA:3337
HP:0020129	Abnormal urine protein level	1962	EHHADH	OMIM:615605
HP:0020129	Abnormal urine protein level	1962	EHHADH	ORPHA:3337
HP:0020129	Abnormal urine protein level	137682	NDUFAF6	ORPHA:3337
HP:0020129	Abnormal urine protein level	6569	SLC34A1	ORPHA:3337
HP:0020129	Abnormal urine protein level	51726	DNAJB11	ORPHA:730
HP:0020129	Abnormal urine protein level	23193	GANAB	ORPHA:730
HP:0020129	Abnormal urine protein level	5310	PKD1	ORPHA:730
HP:0020129	Abnormal urine protein level	5311	PKD2	ORPHA:730
HP:0020129	Abnormal urine protein level	29880	ALG5	ORPHA:730
HP:0020129	Abnormal urine protein level	9742	IFT140	ORPHA:730
HP:0020129	Abnormal urine protein level	79796	ALG9	ORPHA:730
HP:0020129	Abnormal urine protein level	80114	BICC1	ORPHA:730
HP:0020129	Abnormal urine protein level	2592	GALT	OMIM:230400
HP:0020129	Abnormal urine protein level	5189	PEX1	OMIM:214100
HP:0020129	Abnormal urine protein level	975	CD81	OMIM:613496
HP:0020129	Abnormal urine protein level	1650	DDOST	ORPHA:300536
HP:0020129	Abnormal urine protein level	9722	NOS1AP	OMIM:619155
HP:0020129	Abnormal urine protein level	375056	MIA3	OMIM:619269
HP:0020129	Abnormal urine protein level	51124	IER3IP1	OMIM:614231
HP:0020129	Abnormal urine protein level	3767	KCNJ11	ORPHA:99885
HP:0020129	Abnormal urine protein level	6774	STAT3	ORPHA:99885
HP:0020129	Abnormal urine protein level	2645	GCK	ORPHA:99885
HP:0020129	Abnormal urine protein level	3651	PDX1	ORPHA:99885
HP:0020129	Abnormal urine protein level	6833	ABCC8	ORPHA:99885
HP:0020129	Abnormal urine protein level	3630	INS	ORPHA:99885
HP:0020129	Abnormal urine protein level	55610	VPS50	OMIM:619685
HP:0020129	Abnormal urine protein level	3735	KARS1	OMIM:619147
HP:0020129	Abnormal urine protein level	56606	SLC2A9	ORPHA:94088
HP:0020129	Abnormal urine protein level	5076	PAX2	ORPHA:97362
HP:0020129	Abnormal urine protein level	5087	PBX1	ORPHA:97362
HP:0020129	Abnormal urine protein level	6514	SLC2A2	OMIM:227810
HP:0004490	Calvarial hyperostosis	207	AKT1	OMIM:176920
HP:0004490	Calvarial hyperostosis	207	AKT1	ORPHA:744
HP:0004490	Calvarial hyperostosis	1277	COL1A1	ORPHA:1310
HP:0004490	Calvarial hyperostosis	1277	COL1A1	OMIM:114000
HP:0004490	Calvarial hyperostosis	5573	PRKAR1A	OMIM:101800
HP:0004490	Calvarial hyperostosis	3425	IDUA	OMIM:607014
HP:0004490	Calvarial hyperostosis	23516	SLC39A14	OMIM:144755
HP:0004490	Calvarial hyperostosis	84701	COX4I2	OMIM:612714
HP:0004490	Calvarial hyperostosis	3178	HNRNPA1	ORPHA:52430
HP:0004490	Calvarial hyperostosis	7415	VCP	ORPHA:52430
HP:0004490	Calvarial hyperostosis	3181	HNRNPA2B1	ORPHA:52430
HP:0004490	Calvarial hyperostosis	5728	PTEN	ORPHA:744
HP:0004491	Large posterior fontanelle	7849	PAX8	OMIM:218700
HP:0004491	Large posterior fontanelle	8260	NAA10	OMIM:300855
HP:0004491	Large posterior fontanelle	5626	PROP1	ORPHA:226307
HP:0004491	Large posterior fontanelle	89884	LHX4	ORPHA:226307
HP:0004491	Large posterior fontanelle	8022	LHX3	ORPHA:226307
HP:0004491	Large posterior fontanelle	5449	POU1F1	ORPHA:226307
HP:0004491	Large posterior fontanelle	8820	HESX1	ORPHA:226307
HP:0004491	Large posterior fontanelle	405753	DUOXA2	ORPHA:95716
HP:0004491	Large posterior fontanelle	6528	SLC5A5	ORPHA:95716
HP:0004491	Large posterior fontanelle	7038	TG	ORPHA:95716
HP:0004491	Large posterior fontanelle	7173	TPO	ORPHA:95716
HP:0004491	Large posterior fontanelle	389434	IYD	ORPHA:95716
HP:0004491	Large posterior fontanelle	50506	DUOX2	ORPHA:95716
HP:0004491	Large posterior fontanelle	55670	PEX26	OMIM:614872
HP:0004491	Large posterior fontanelle	27152	INTU	OMIM:617925
HP:0004491	Large posterior fontanelle	7253	TSHR	ORPHA:90673
HP:0004491	Large posterior fontanelle	7252	TSHB	ORPHA:90674
HP:0004491	Large posterior fontanelle	2879	GPX4	OMIM:250220
HP:0004493	Craniofacial hyperostosis	4038	LRP4	ORPHA:3152
HP:0004493	Craniofacial hyperostosis	4041	LRP5	ORPHA:2790
HP:0004493	Craniofacial hyperostosis	6197	RPS6KA3	ORPHA:192
HP:0004493	Craniofacial hyperostosis	2778	GNAS	OMIM:174800
HP:0004493	Craniofacial hyperostosis	56172	ANKH	ORPHA:1522
HP:0004493	Craniofacial hyperostosis	4854	NOTCH3	ORPHA:2789
HP:0004493	Craniofacial hyperostosis	126792	B3GALT6	ORPHA:2725
HP:0004493	Craniofacial hyperostosis	10312	TCIRG1	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	55315	SLC29A3	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	8792	TNFRSF11A	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	2260	FGFR1	ORPHA:2396
HP:0004493	Craniofacial hyperostosis	3845	KRAS	ORPHA:2396
HP:0004493	Craniofacial hyperostosis	2316	FLNA	ORPHA:2484
HP:0004493	Craniofacial hyperostosis	6916	TBXAS1	ORPHA:1802
HP:0004493	Craniofacial hyperostosis	4089	SMAD4	ORPHA:2588
HP:0004493	Craniofacial hyperostosis	2068	ERCC2	ORPHA:910
HP:0004493	Craniofacial hyperostosis	7507	XPA	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2071	ERCC3	ORPHA:910
HP:0004493	Craniofacial hyperostosis	7508	XPC	ORPHA:910
HP:0004493	Craniofacial hyperostosis	1643	DDB2	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2072	ERCC4	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2073	ERCC5	ORPHA:910
HP:0004493	Craniofacial hyperostosis	207	AKT1	OMIM:176920
HP:0004493	Craniofacial hyperostosis	2697	GJA1	OMIM:218400
HP:0004493	Craniofacial hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0004493	Craniofacial hyperostosis	139285	AMER1	ORPHA:2780
HP:0004493	Craniofacial hyperostosis	50964	SOST	OMIM:269500
HP:0000463	Anteverted nares	2137	EXTL3	ORPHA:508533
HP:0000463	Anteverted nares	1718	DHCR24	OMIM:602398
HP:0000463	Anteverted nares	8367	H4C5	OMIM:619950
HP:0000463	Anteverted nares	340533	NEXMIF	OMIM:300912
HP:0000463	Anteverted nares	340533	NEXMIF	ORPHA:1942
HP:0000463	Anteverted nares	6659	SOX4	OMIM:618506
HP:0000463	Anteverted nares	6659	SOX4	ORPHA:1465
HP:0000463	Anteverted nares	9820	CUL7	ORPHA:2616
HP:0000463	Anteverted nares	9820	CUL7	OMIM:273750
HP:0000463	Anteverted nares	23363	OBSL1	ORPHA:2616
HP:0000463	Anteverted nares	23363	OBSL1	OMIM:612921
HP:0000463	Anteverted nares	83987	CCDC8	ORPHA:2616
HP:0000463	Anteverted nares	83987	CCDC8	OMIM:614205
HP:0000463	Anteverted nares	81857	MED25	OMIM:616449
HP:0000463	Anteverted nares	81857	MED25	ORPHA:464738
HP:0000463	Anteverted nares	5457	POU4F1	ORPHA:314647
HP:0000463	Anteverted nares	23261	CAMTA1	ORPHA:314647
HP:0000463	Anteverted nares	23261	CAMTA1	OMIM:614756
HP:0000463	Anteverted nares	55209	SETD5	ORPHA:404440
HP:0000463	Anteverted nares	55209	SETD5	OMIM:615761
HP:0000463	Anteverted nares	116931	MED12L	OMIM:618872
HP:0000463	Anteverted nares	9578	CDC42BPB	OMIM:619841
HP:0000463	Anteverted nares	3020	H3-3A	OMIM:619720
HP:0000463	Anteverted nares	10300	KATNB1	OMIM:616212
HP:0000463	Anteverted nares	80816	ASXL3	OMIM:615485
HP:0000463	Anteverted nares	6536	SLC6A9	OMIM:617301
HP:0000463	Anteverted nares	51741	WWOX	OMIM:616211
HP:0000463	Anteverted nares	1855	DVL1	OMIM:616331
HP:0000463	Anteverted nares	1855	DVL1	OMIM:180700
HP:0000463	Anteverted nares	1855	DVL1	ORPHA:3107
HP:0000463	Anteverted nares	55790	CSGALNACT1	OMIM:618870
HP:0000463	Anteverted nares	55790	CSGALNACT1	ORPHA:1425
HP:0000463	Anteverted nares	5830	PEX5	OMIM:202370
HP:0000463	Anteverted nares	5830	PEX5	ORPHA:44
HP:0000463	Anteverted nares	23322	RPGRIP1L	ORPHA:220497
HP:0000463	Anteverted nares	23322	RPGRIP1L	ORPHA:1454
HP:0000463	Anteverted nares	4867	NPHP1	ORPHA:220497
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:220497
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:475
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:2318
HP:0000463	Anteverted nares	79639	TMEM53	OMIM:619727
HP:0000463	Anteverted nares	72	ACTG2	ORPHA:2604
HP:0000463	Anteverted nares	54806	AHI1	ORPHA:220493
HP:0000463	Anteverted nares	54806	AHI1	ORPHA:475
HP:0000463	Anteverted nares	54806	AHI1	ORPHA:791
HP:0000463	Anteverted nares	54806	AHI1	OMIM:608629
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:220493
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:475
HP:0000463	Anteverted nares	56623	INPP5E	OMIM:213300
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:1454
HP:0000463	Anteverted nares	153241	CEP120	ORPHA:220493
HP:0000463	Anteverted nares	153241	CEP120	ORPHA:475
HP:0000463	Anteverted nares	54903	MKS1	ORPHA:220493
HP:0000463	Anteverted nares	54903	MKS1	ORPHA:475
HP:0000463	Anteverted nares	95681	CEP41	ORPHA:220493
HP:0000463	Anteverted nares	95681	CEP41	ORPHA:475
HP:0000463	Anteverted nares	5728	PTEN	ORPHA:2969
HP:0000463	Anteverted nares	5728	PTEN	ORPHA:109
HP:0000463	Anteverted nares	5728	PTEN	ORPHA:744
HP:0000463	Anteverted nares	129563	DIS3L2	ORPHA:2849
HP:0000463	Anteverted nares	3764	KCNJ8	ORPHA:1517
HP:0000463	Anteverted nares	10060	ABCC9	ORPHA:1517
HP:0000463	Anteverted nares	10060	ABCC9	OMIM:239850
HP:0000463	Anteverted nares	79158	GNPTAB	OMIM:252500
HP:0000463	Anteverted nares	57539	WDR35	ORPHA:1515
HP:0000463	Anteverted nares	112752	IFT43	ORPHA:1515
HP:0000463	Anteverted nares	51098	IFT52	ORPHA:1515
HP:0000463	Anteverted nares	55764	IFT122	ORPHA:1515
HP:0000463	Anteverted nares	55764	IFT122	OMIM:218330
HP:0000463	Anteverted nares	57728	WDR19	ORPHA:1515
HP:0000463	Anteverted nares	57728	WDR19	OMIM:614378
HP:0000463	Anteverted nares	5189	PEX1	OMIM:214100
HP:0000463	Anteverted nares	5189	PEX1	ORPHA:44
HP:0000463	Anteverted nares	2260	FGFR1	ORPHA:280200
HP:0000463	Anteverted nares	2260	FGFR1	OMIM:166250
HP:0000463	Anteverted nares	2260	FGFR1	ORPHA:2645
HP:0000463	Anteverted nares	28514	DLL1	ORPHA:280200
HP:0000463	Anteverted nares	2253	FGF8	ORPHA:280200
HP:0000463	Anteverted nares	6496	SIX3	ORPHA:280200
HP:0000463	Anteverted nares	7050	TGIF1	ORPHA:280200
HP:0000463	Anteverted nares	4838	NODAL	ORPHA:280200
HP:0000463	Anteverted nares	6469	SHH	ORPHA:280200
HP:0000463	Anteverted nares	51684	SUFU	ORPHA:280200
HP:0000463	Anteverted nares	51684	SUFU	ORPHA:475
HP:0000463	Anteverted nares	7546	ZIC2	ORPHA:280200
HP:0000463	Anteverted nares	7546	ZIC2	OMIM:609637
HP:0000463	Anteverted nares	2619	GAS1	ORPHA:280200
HP:0000463	Anteverted nares	84976	DISP1	ORPHA:280200
HP:0000463	Anteverted nares	2736	GLI2	ORPHA:280200
HP:0000463	Anteverted nares	8928	FOXH1	ORPHA:280200
HP:0000463	Anteverted nares	5727	PTCH1	ORPHA:280200
HP:0000463	Anteverted nares	50937	CDON	ORPHA:280200
HP:0000463	Anteverted nares	6023	RMRP	ORPHA:175
HP:0000463	Anteverted nares	57589	RIC1	OMIM:618761
HP:0000463	Anteverted nares	79868	ALG13	ORPHA:324422
HP:0000463	Anteverted nares	79868	ALG13	OMIM:300884
HP:0000463	Anteverted nares	317662	FAM149B1	OMIM:618763
HP:0000463	Anteverted nares	55870	ASH1L	OMIM:617796
HP:0000463	Anteverted nares	10606	PAICS	OMIM:619859
HP:0000463	Anteverted nares	11232	POLG2	OMIM:618528
HP:0000463	Anteverted nares	4853	NOTCH2	OMIM:102500
HP:0000463	Anteverted nares	4853	NOTCH2	ORPHA:955
HP:0000463	Anteverted nares	64359	NXN	OMIM:618529
HP:0000463	Anteverted nares	64359	NXN	ORPHA:1507
HP:0000463	Anteverted nares	9326	ZNHIT3	ORPHA:2836
HP:0000463	Anteverted nares	547	KIF1A	ORPHA:2836
HP:0000463	Anteverted nares	2770	GNAI1	OMIM:619854
HP:0000463	Anteverted nares	4920	ROR2	ORPHA:1507
HP:0000463	Anteverted nares	4920	ROR2	OMIM:268310
HP:0000463	Anteverted nares	2697	GJA1	ORPHA:2710
HP:0000463	Anteverted nares	2697	GJA1	OMIM:164200
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:184840
HP:0000463	Anteverted nares	1302	COL11A2	ORPHA:2021
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:614524
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:215150
HP:0000463	Anteverted nares	1302	COL11A2	ORPHA:1427
HP:0000463	Anteverted nares	6872	TAF1	ORPHA:480907
HP:0000463	Anteverted nares	6872	TAF1	OMIM:300966
HP:0000463	Anteverted nares	171023	ASXL1	ORPHA:97297
HP:0000463	Anteverted nares	171023	ASXL1	OMIM:605039
HP:0000463	Anteverted nares	10484	SEC23A	OMIM:607812
HP:0000463	Anteverted nares	10087	CERT1	OMIM:616351
HP:0000463	Anteverted nares	54968	TMEM70	OMIM:614052
HP:0000463	Anteverted nares	4330	MN1	OMIM:618774
HP:0000463	Anteverted nares	5442	POLRMT	OMIM:619743
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:228520
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:604841
HP:0000463	Anteverted nares	1301	COL11A1	ORPHA:560
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:154780
HP:0000463	Anteverted nares	1301	COL11A1	ORPHA:2021
HP:0000463	Anteverted nares	57231	SNX14	OMIM:616354
HP:0000463	Anteverted nares	23327	NEDD4L	OMIM:617201
HP:0000463	Anteverted nares	8036	SHOC2	ORPHA:2701
HP:0000463	Anteverted nares	5500	PPP1CB	ORPHA:2701
HP:0000463	Anteverted nares	5813	PURA	ORPHA:438216
HP:0000463	Anteverted nares	5813	PURA	OMIM:616158
HP:0000463	Anteverted nares	5813	PURA	ORPHA:314655
HP:0000463	Anteverted nares	26040	SETBP1	OMIM:269150
HP:0000463	Anteverted nares	8241	RBM10	OMIM:311900
HP:0000463	Anteverted nares	8241	RBM10	ORPHA:2886
HP:0000463	Anteverted nares	57167	SALL4	ORPHA:233
HP:0000463	Anteverted nares	9935	MAFB	ORPHA:233
HP:0000463	Anteverted nares	1123	CHN1	ORPHA:233
HP:0000463	Anteverted nares	79600	TCTN1	ORPHA:475
HP:0000463	Anteverted nares	79848	CSPP1	ORPHA:475
HP:0000463	Anteverted nares	65250	CPLANE1	ORPHA:475
HP:0000463	Anteverted nares	91147	TMEM67	ORPHA:475
HP:0000463	Anteverted nares	91147	TMEM67	OMIM:216360
HP:0000463	Anteverted nares	91147	TMEM67	ORPHA:1454
HP:0000463	Anteverted nares	200894	ARL13B	ORPHA:475
HP:0000463	Anteverted nares	9731	CEP104	ORPHA:475
HP:0000463	Anteverted nares	219844	HYLS1	ORPHA:475
HP:0000463	Anteverted nares	23247	KATNIP	ORPHA:475
HP:0000463	Anteverted nares	23247	KATNIP	OMIM:616784
HP:0000463	Anteverted nares	219854	TMEM218	ORPHA:475
HP:0000463	Anteverted nares	9786	KIAA0586	ORPHA:475
HP:0000463	Anteverted nares	79867	TCTN2	ORPHA:475
HP:0000463	Anteverted nares	80776	B9D2	ORPHA:475
HP:0000463	Anteverted nares	10464	PIBF1	ORPHA:475
HP:0000463	Anteverted nares	80210	ARMC9	ORPHA:475
HP:0000463	Anteverted nares	23116	TOGARAM1	ORPHA:475
HP:0000463	Anteverted nares	23116	TOGARAM1	OMIM:619185
HP:0000463	Anteverted nares	25776	CBY1	ORPHA:475
HP:0000463	Anteverted nares	27077	B9D1	ORPHA:475
HP:0000463	Anteverted nares	403	ARL3	ORPHA:475
HP:0000463	Anteverted nares	403	ARL3	ORPHA:791
HP:0000463	Anteverted nares	403	ARL3	OMIM:618161
HP:0000463	Anteverted nares	1789	DNMT3B	OMIM:242860
HP:0000463	Anteverted nares	5518	PPP2R1A	OMIM:616362
HP:0000463	Anteverted nares	5518	PPP2R1A	ORPHA:457284
HP:0000463	Anteverted nares	253738	EBF3	OMIM:617330
HP:0000463	Anteverted nares	55768	NGLY1	OMIM:615273
HP:0000463	Anteverted nares	8493	PPM1D	OMIM:617450
HP:0000463	Anteverted nares	85301	COL27A1	OMIM:615155
HP:0000463	Anteverted nares	51604	PIGT	OMIM:615398
HP:0000463	Anteverted nares	5792	PTPRF	OMIM:616001
HP:0000463	Anteverted nares	3572	IL6ST	OMIM:619750
HP:0000463	Anteverted nares	3845	KRAS	OMIM:615278
HP:0000463	Anteverted nares	3845	KRAS	ORPHA:3339
HP:0000463	Anteverted nares	3845	KRAS	ORPHA:1340
HP:0000463	Anteverted nares	3845	KRAS	OMIM:609942
HP:0000463	Anteverted nares	27125	AFF4	OMIM:616368
HP:0000463	Anteverted nares	27125	AFF4	ORPHA:444077
HP:0000463	Anteverted nares	9841	ZBTB24	OMIM:614069
HP:0000463	Anteverted nares	51692	CPSF3	OMIM:619876
HP:0000463	Anteverted nares	3098	HK1	OMIM:618547
HP:0000463	Anteverted nares	79770	TXNDC15	OMIM:619879
HP:0000463	Anteverted nares	9091	PIGQ	OMIM:618548
HP:0000463	Anteverted nares	9091	PIGQ	ORPHA:1934
HP:0000463	Anteverted nares	285362	SUMF1	OMIM:272200
HP:0000463	Anteverted nares	285362	SUMF1	ORPHA:585
HP:0000463	Anteverted nares	26137	ZBTB20	OMIM:259050
HP:0000463	Anteverted nares	8314	BAP1	OMIM:619762
HP:0000463	Anteverted nares	7750	ZMYM2	OMIM:619522
HP:0000463	Anteverted nares	8733	GPAA1	ORPHA:529665
HP:0000463	Anteverted nares	8733	GPAA1	OMIM:617810
HP:0000463	Anteverted nares	253959	RALGAPA1	OMIM:618797
HP:0000463	Anteverted nares	53335	BCL11A	OMIM:617101
HP:0000463	Anteverted nares	4849	CNOT3	OMIM:618672
HP:0000463	Anteverted nares	4285	MIPEP	OMIM:617228
HP:0000463	Anteverted nares	9928	KIF14	OMIM:616258
HP:0000463	Anteverted nares	2263	FGFR2	OMIM:123790
HP:0000463	Anteverted nares	2263	FGFR2	ORPHA:1555
HP:0000463	Anteverted nares	9772	TMEM94	OMIM:618316
HP:0000463	Anteverted nares	25973	PARS2	OMIM:618437
HP:0000463	Anteverted nares	79971	WLS	OMIM:619648
HP:0000463	Anteverted nares	56975	FAM20C	ORPHA:1832
HP:0000463	Anteverted nares	2271	FH	OMIM:606812
HP:0000463	Anteverted nares	4208	MEF2C	ORPHA:228384
HP:0000463	Anteverted nares	4208	MEF2C	OMIM:613443
HP:0000463	Anteverted nares	5373	PMM2	ORPHA:79318
HP:0000463	Anteverted nares	23556	PIGN	OMIM:614080
HP:0000463	Anteverted nares	23556	PIGN	ORPHA:2059
HP:0000463	Anteverted nares	23556	PIGN	ORPHA:280633
HP:0000463	Anteverted nares	2239	GPC4	ORPHA:373
HP:0000463	Anteverted nares	2239	GPC4	OMIM:312870
HP:0000463	Anteverted nares	2719	GPC3	ORPHA:373
HP:0000463	Anteverted nares	2719	GPC3	OMIM:312870
HP:0000463	Anteverted nares	23007	PLCH1	OMIM:619895
HP:0000463	Anteverted nares	23162	MAPK8IP3	OMIM:618443
HP:0000463	Anteverted nares	54941	RNF125	OMIM:616260
HP:0000463	Anteverted nares	79989	IFT56	OMIM:619534
HP:0000463	Anteverted nares	259232	NALCN	OMIM:616266
HP:0000463	Anteverted nares	259232	NALCN	ORPHA:371364
HP:0000463	Anteverted nares	84168	ANTXR1	OMIM:230740
HP:0000463	Anteverted nares	84168	ANTXR1	ORPHA:2067
HP:0000463	Anteverted nares	25836	NIPBL	OMIM:122470
HP:0000463	Anteverted nares	25836	NIPBL	ORPHA:199
HP:0000463	Anteverted nares	2317	FLNB	OMIM:272460
HP:0000463	Anteverted nares	6513	SLC2A1	ORPHA:1942
HP:0000463	Anteverted nares	8831	SYNGAP1	ORPHA:1942
HP:0000463	Anteverted nares	1173	AP2M1	ORPHA:1942
HP:0000463	Anteverted nares	6323	SCN1A	ORPHA:1942
HP:0000463	Anteverted nares	1106	CHD2	ORPHA:1942
HP:0000463	Anteverted nares	6529	SLC6A1	ORPHA:1942
HP:0000463	Anteverted nares	9896	FIG4	OMIM:216340
HP:0000463	Anteverted nares	9896	FIG4	ORPHA:3472
HP:0000463	Anteverted nares	6595	SMARCA2	OMIM:601358
HP:0000463	Anteverted nares	6595	SMARCA2	ORPHA:3051
HP:0000463	Anteverted nares	6595	SMARCA2	OMIM:619293
HP:0000463	Anteverted nares	1387	CREBBP	OMIM:618332
HP:0000463	Anteverted nares	8295	TRRAP	OMIM:618454
HP:0000463	Anteverted nares	5881	RAC3	OMIM:618577
HP:0000463	Anteverted nares	60529	ALX4	ORPHA:228390
HP:0000463	Anteverted nares	60529	ALX4	OMIM:613451
HP:0000463	Anteverted nares	9427	ECEL1	OMIM:615065
HP:0000463	Anteverted nares	5587	PRKD1	OMIM:617364
HP:0000463	Anteverted nares	9851	KIAA0753	OMIM:617127
HP:0000463	Anteverted nares	51013	EXOSC1	OMIM:619304
HP:0000463	Anteverted nares	1642	DDB1	OMIM:619426
HP:0000463	Anteverted nares	6792	CDKL5	ORPHA:1934
HP:0000463	Anteverted nares	6792	CDKL5	OMIM:300672
HP:0000463	Anteverted nares	3736	KCNA1	ORPHA:1934
HP:0000463	Anteverted nares	2775	GNAO1	ORPHA:1934
HP:0000463	Anteverted nares	81603	TRIM8	ORPHA:1934
HP:0000463	Anteverted nares	2902	GRIN1	ORPHA:1934
HP:0000463	Anteverted nares	79751	SLC25A22	ORPHA:1934
HP:0000463	Anteverted nares	150094	SIK1	ORPHA:1934
HP:0000463	Anteverted nares	8573	CASK	ORPHA:1934
HP:0000463	Anteverted nares	23312	DMXL2	ORPHA:1934
HP:0000463	Anteverted nares	2917	GRM7	ORPHA:1934
HP:0000463	Anteverted nares	170302	ARX	ORPHA:1934
HP:0000463	Anteverted nares	11284	PNKP	ORPHA:1934
HP:0000463	Anteverted nares	6326	SCN2A	ORPHA:1934
HP:0000463	Anteverted nares	51227	PIGP	ORPHA:1934
HP:0000463	Anteverted nares	6324	SCN1B	ORPHA:1934
HP:0000463	Anteverted nares	4761	NEUROD2	ORPHA:1934
HP:0000463	Anteverted nares	389827	MYMK	OMIM:254940
HP:0000463	Anteverted nares	389827	MYMK	ORPHA:1358
HP:0000463	Anteverted nares	2737	GLI3	ORPHA:672
HP:0000463	Anteverted nares	2737	GLI3	OMIM:146510
HP:0000463	Anteverted nares	9361	LONP1	OMIM:600373
HP:0000463	Anteverted nares	9361	LONP1	ORPHA:1458
HP:0000463	Anteverted nares	92840	REEP6	ORPHA:791
HP:0000463	Anteverted nares	6094	ROM1	ORPHA:791
HP:0000463	Anteverted nares	6017	RLBP1	ORPHA:791
HP:0000463	Anteverted nares	7401	CLRN1	ORPHA:791
HP:0000463	Anteverted nares	24	ABCA4	ORPHA:791
HP:0000463	Anteverted nares	130557	ZNF513	ORPHA:791
HP:0000463	Anteverted nares	582	BBS1	ORPHA:791
HP:0000463	Anteverted nares	92211	CDHR1	ORPHA:791
HP:0000463	Anteverted nares	23568	ARL2BP	ORPHA:791
HP:0000463	Anteverted nares	6121	RPE65	ORPHA:791
HP:0000463	Anteverted nares	6101	RP1	ORPHA:791
HP:0000463	Anteverted nares	3419	IDH3A	ORPHA:791
HP:0000463	Anteverted nares	4751	NEK2	ORPHA:791
HP:0000463	Anteverted nares	346007	EYS	ORPHA:791
HP:0000463	Anteverted nares	8100	IFT88	ORPHA:791
HP:0000463	Anteverted nares	23020	SNRNP200	ORPHA:791
HP:0000463	Anteverted nares	762	CA4	ORPHA:791
HP:0000463	Anteverted nares	138050	HGSNAT	ORPHA:791
HP:0000463	Anteverted nares	196	AHR	ORPHA:791
HP:0000463	Anteverted nares	3614	IMPDH1	ORPHA:791
HP:0000463	Anteverted nares	123016	TTC8	ORPHA:791
HP:0000463	Anteverted nares	6103	RPGR	ORPHA:791
HP:0000463	Anteverted nares	1406	CRX	ORPHA:791
HP:0000463	Anteverted nares	5148	PDE6G	ORPHA:791
HP:0000463	Anteverted nares	26160	IFT172	ORPHA:791
HP:0000463	Anteverted nares	26121	PRPF31	ORPHA:791
HP:0000463	Anteverted nares	583	BBS2	ORPHA:791
HP:0000463	Anteverted nares	4117	MAK	ORPHA:791
HP:0000463	Anteverted nares	25794	FSCN2	ORPHA:791
HP:0000463	Anteverted nares	375298	CERKL	ORPHA:791
HP:0000463	Anteverted nares	3420	IDH3B	ORPHA:791
HP:0000463	Anteverted nares	57670	KIAA1549	ORPHA:791
HP:0000463	Anteverted nares	7275	TUB	ORPHA:791
HP:0000463	Anteverted nares	24148	PRPF6	ORPHA:791
HP:0000463	Anteverted nares	23418	CRB1	ORPHA:791
HP:0000463	Anteverted nares	10461	MERTK	ORPHA:791
HP:0000463	Anteverted nares	57709	SLC7A14	ORPHA:791
HP:0000463	Anteverted nares	768206	PRCD	ORPHA:791
HP:0000463	Anteverted nares	7399	USH2A	ORPHA:791
HP:0000463	Anteverted nares	23370	ARHGEF18	ORPHA:791
HP:0000463	Anteverted nares	5949	RBP3	ORPHA:791
HP:0000463	Anteverted nares	6010	RHO	ORPHA:791
HP:0000463	Anteverted nares	6100	RP9	ORPHA:791
HP:0000463	Anteverted nares	10002	NR2E3	ORPHA:791
HP:0000463	Anteverted nares	9227	LRAT	ORPHA:791
HP:0000463	Anteverted nares	84140	FAM161A	ORPHA:791
HP:0000463	Anteverted nares	55812	SPATA7	ORPHA:791
HP:0000463	Anteverted nares	55624	POMGNT1	ORPHA:791
HP:0000463	Anteverted nares	79797	ZNF408	ORPHA:791
HP:0000463	Anteverted nares	5145	PDE6A	ORPHA:791
HP:0000463	Anteverted nares	10210	TOPORS	ORPHA:791
HP:0000463	Anteverted nares	8842	PROM1	ORPHA:791
HP:0000463	Anteverted nares	9128	PRPF4	ORPHA:791
HP:0000463	Anteverted nares	145226	RDH12	ORPHA:791
HP:0000463	Anteverted nares	50939	IMPG2	ORPHA:791
HP:0000463	Anteverted nares	8481	OFD1	ORPHA:791
HP:0000463	Anteverted nares	49855	SCAPER	ORPHA:791
HP:0000463	Anteverted nares	9742	IFT140	ORPHA:791
HP:0000463	Anteverted nares	2979	GUCA1B	ORPHA:791
HP:0000463	Anteverted nares	1259	CNGA1	ORPHA:791
HP:0000463	Anteverted nares	1258	CNGB1	ORPHA:791
HP:0000463	Anteverted nares	60509	AGBL5	ORPHA:791
HP:0000463	Anteverted nares	5961	PRPH2	ORPHA:791
HP:0000463	Anteverted nares	388939	PCARE	ORPHA:791
HP:0000463	Anteverted nares	7439	BEST1	ORPHA:791
HP:0000463	Anteverted nares	9785	DHX38	ORPHA:791
HP:0000463	Anteverted nares	7287	TULP1	ORPHA:791
HP:0000463	Anteverted nares	5995	RGR	ORPHA:791
HP:0000463	Anteverted nares	9129	PRPF3	ORPHA:791
HP:0000463	Anteverted nares	55975	KLHL7	ORPHA:791
HP:0000463	Anteverted nares	3617	IMPG1	ORPHA:791
HP:0000463	Anteverted nares	94137	RP1L1	ORPHA:791
HP:0000463	Anteverted nares	5158	PDE6B	ORPHA:791
HP:0000463	Anteverted nares	6102	RP2	ORPHA:791
HP:0000463	Anteverted nares	55857	KIZ	ORPHA:791
HP:0000463	Anteverted nares	64218	SEMA4A	ORPHA:791
HP:0000463	Anteverted nares	4901	NRL	ORPHA:791
HP:0000463	Anteverted nares	157657	CFAP418	ORPHA:791
HP:0000463	Anteverted nares	10594	PRPF8	ORPHA:791
HP:0000463	Anteverted nares	84100	ARL6	ORPHA:791
HP:0000463	Anteverted nares	6295	SAG	ORPHA:791
HP:0000463	Anteverted nares	79947	DHDDS	ORPHA:791
HP:0000463	Anteverted nares	5898	RALA	OMIM:619311
HP:0000463	Anteverted nares	23013	SPEN	OMIM:619312
HP:0000463	Anteverted nares	54517	PUS7	OMIM:618342
HP:0000463	Anteverted nares	10785	WDR4	OMIM:618347
HP:0000463	Anteverted nares	79813	EHMT1	ORPHA:96147
HP:0000463	Anteverted nares	79813	EHMT1	OMIM:610253
HP:0000463	Anteverted nares	55315	SLC29A3	OMIM:602782
HP:0000463	Anteverted nares	55869	HDAC8	OMIM:300882
HP:0000463	Anteverted nares	55869	HDAC8	ORPHA:199
HP:0000463	Anteverted nares	2972	BRF1	ORPHA:444072
HP:0000463	Anteverted nares	29998	BICRA	OMIM:619325
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:254528
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:96184
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:96334
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:254528
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:96184
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:96334
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:254528
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:96184
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:96334
HP:0000463	Anteverted nares	57520	HECW2	OMIM:617268
HP:0000463	Anteverted nares	23030	KDM4B	OMIM:619320
HP:0000463	Anteverted nares	6492	SIM1	ORPHA:171829
HP:0000463	Anteverted nares	23314	SATB2	ORPHA:251019
HP:0000463	Anteverted nares	23314	SATB2	OMIM:612313
HP:0000463	Anteverted nares	4081	MAB21L1	OMIM:618479
HP:0000463	Anteverted nares	9126	SMC3	OMIM:610759
HP:0000463	Anteverted nares	9126	SMC3	ORPHA:199
HP:0000463	Anteverted nares	79068	FTO	OMIM:612938
HP:0000463	Anteverted nares	473	RERE	ORPHA:494344
HP:0000463	Anteverted nares	473	RERE	OMIM:616975
HP:0000463	Anteverted nares	4784	NFIX	OMIM:602535
HP:0000463	Anteverted nares	4784	NFIX	ORPHA:561
HP:0000463	Anteverted nares	23221	RHOBTB2	OMIM:618004
HP:0000463	Anteverted nares	22930	RAB3GAP1	OMIM:600118
HP:0000463	Anteverted nares	22930	RAB3GAP1	ORPHA:2510
HP:0000463	Anteverted nares	6601	SMARCC2	OMIM:618362
HP:0000463	Anteverted nares	6601	SMARCC2	ORPHA:1465
HP:0000463	Anteverted nares	54496	PRMT7	OMIM:617157
HP:0000463	Anteverted nares	54496	PRMT7	ORPHA:464288
HP:0000463	Anteverted nares	92255	LMBRD2	OMIM:619694
HP:0000463	Anteverted nares	7965	AIMP2	OMIM:618006
HP:0000463	Anteverted nares	29920	PYCR2	ORPHA:481152
HP:0000463	Anteverted nares	29920	PYCR2	OMIM:616420
HP:0000463	Anteverted nares	1009	CDH11	OMIM:211380
HP:0000463	Anteverted nares	22827	PUF60	ORPHA:508488
HP:0000463	Anteverted nares	22827	PUF60	OMIM:615583
HP:0000463	Anteverted nares	2261	FGFR3	ORPHA:15
HP:0000463	Anteverted nares	80311	KLHL15	OMIM:300982
HP:0000463	Anteverted nares	6045	RNF2	OMIM:619460
HP:0000463	Anteverted nares	1781	DYNC1I2	OMIM:618492
HP:0000463	Anteverted nares	774	CACNA1B	OMIM:618497
HP:0000463	Anteverted nares	3977	LIFR	OMIM:601559
HP:0000463	Anteverted nares	5277	PIGA	OMIM:300868
HP:0000463	Anteverted nares	4613	MYCN	OMIM:164280
HP:0000463	Anteverted nares	23384	SPECC1L	OMIM:145420
HP:0000463	Anteverted nares	5573	PRKAR1A	OMIM:101800
HP:0000463	Anteverted nares	5573	PRKAR1A	ORPHA:950
HP:0000463	Anteverted nares	5573	PRKAR1A	ORPHA:280651
HP:0000463	Anteverted nares	9244	CRLF1	OMIM:272430
HP:0000463	Anteverted nares	9244	CRLF1	ORPHA:1545
HP:0000463	Anteverted nares	9343	EFTUD2	OMIM:610536
HP:0000463	Anteverted nares	6611	SMS	ORPHA:3063
HP:0000463	Anteverted nares	6611	SMS	OMIM:309583
HP:0000463	Anteverted nares	5281	PIGF	OMIM:619356
HP:0000463	Anteverted nares	5977	DPF2	OMIM:618027
HP:0000463	Anteverted nares	5977	DPF2	ORPHA:1465
HP:0000463	Anteverted nares	6711	SPTBN1	OMIM:619475
HP:0000463	Anteverted nares	80036	TRPM3	OMIM:620224
HP:0000463	Anteverted nares	4796	TONSL	OMIM:271510
HP:0000463	Anteverted nares	4796	TONSL	ORPHA:93357
HP:0000463	Anteverted nares	526	ATP6V1B2	ORPHA:79500
HP:0000463	Anteverted nares	57465	TBC1D24	ORPHA:79500
HP:0000463	Anteverted nares	57465	TBC1D24	OMIM:220500
HP:0000463	Anteverted nares	207	AKT1	ORPHA:744
HP:0000463	Anteverted nares	23405	DICER1	OMIM:618272
HP:0000463	Anteverted nares	136647	MPLKIP	OMIM:234050
HP:0000463	Anteverted nares	1457	CSNK2A1	OMIM:617062
HP:0000463	Anteverted nares	3636	INPPL1	OMIM:258480
HP:0000463	Anteverted nares	2077	ERF	OMIM:617180
HP:0000463	Anteverted nares	2571	GAD1	OMIM:619124
HP:0000463	Anteverted nares	285590	SH3PXD2B	OMIM:249420
HP:0000463	Anteverted nares	374879	ZNF699	OMIM:619488
HP:0000463	Anteverted nares	8567	MADD	OMIM:619005
HP:0000463	Anteverted nares	29123	ANKRD11	ORPHA:261250
HP:0000463	Anteverted nares	29123	ANKRD11	OMIM:148050
HP:0000463	Anteverted nares	29123	ANKRD11	ORPHA:2332
HP:0000463	Anteverted nares	10220	GDF11	OMIM:619122
HP:0000463	Anteverted nares	9508	ADAMTS3	OMIM:618154
HP:0000463	Anteverted nares	1654	DDX3X	OMIM:300958
HP:0000463	Anteverted nares	93587	TRMT10A	ORPHA:391408
HP:0000463	Anteverted nares	84919	PPP1R15B	ORPHA:391408
HP:0000463	Anteverted nares	2799	GNS	OMIM:252940
HP:0000463	Anteverted nares	9759	HDAC4	OMIM:600430
HP:0000463	Anteverted nares	9759	HDAC4	ORPHA:1001
HP:0000463	Anteverted nares	3090	HIC1	ORPHA:531
HP:0000463	Anteverted nares	5048	PAFAH1B1	ORPHA:531
HP:0000463	Anteverted nares	7531	YWHAE	ORPHA:531
HP:0000463	Anteverted nares	57020	VPS35L	OMIM:619135
HP:0000463	Anteverted nares	4781	NFIB	OMIM:618286
HP:0000463	Anteverted nares	3643	INSR	ORPHA:769
HP:0000463	Anteverted nares	84081	NSRP1	OMIM:620001
HP:0000463	Anteverted nares	7474	WNT5A	OMIM:180700
HP:0000463	Anteverted nares	7474	WNT5A	ORPHA:3107
HP:0000463	Anteverted nares	1795	DOCK3	OMIM:618292
HP:0000463	Anteverted nares	129285	PPP1R21	OMIM:619383
HP:0000463	Anteverted nares	84842	HPDL	OMIM:619026
HP:0000463	Anteverted nares	5144	PDE4D	ORPHA:950
HP:0000463	Anteverted nares	5144	PDE4D	OMIM:614613
HP:0000463	Anteverted nares	5144	PDE4D	ORPHA:280651
HP:0000463	Anteverted nares	8243	SMC1A	OMIM:300590
HP:0000463	Anteverted nares	8243	SMC1A	OMIM:301044
HP:0000463	Anteverted nares	8243	SMC1A	ORPHA:199
HP:0000463	Anteverted nares	10128	LRPPRC	OMIM:220111
HP:0000463	Anteverted nares	158	ADSL	OMIM:103050
HP:0000463	Anteverted nares	158	ADSL	ORPHA:46
HP:0000463	Anteverted nares	9131	AIFM1	OMIM:300232
HP:0000463	Anteverted nares	9131	AIFM1	ORPHA:83629
HP:0000463	Anteverted nares	6309	SC5D	ORPHA:46059
HP:0000463	Anteverted nares	6309	SC5D	OMIM:607330
HP:0000463	Anteverted nares	55503	TRPV6	OMIM:618188
HP:0000463	Anteverted nares	5885	RAD21	OMIM:614701
HP:0000463	Anteverted nares	5885	RAD21	ORPHA:199
HP:0000463	Anteverted nares	673	BRAF	OMIM:115150
HP:0000463	Anteverted nares	673	BRAF	ORPHA:1340
HP:0000463	Anteverted nares	145173	B3GLCT	ORPHA:709
HP:0000463	Anteverted nares	4774	NFIA	OMIM:613735
HP:0000463	Anteverted nares	2629	GBA1	OMIM:608013
HP:0000463	Anteverted nares	2629	GBA1	ORPHA:85212
HP:0000463	Anteverted nares	4281	MID1	OMIM:300000
HP:0000463	Anteverted nares	4281	MID1	ORPHA:2745
HP:0000463	Anteverted nares	80232	WDR26	ORPHA:513456
HP:0000463	Anteverted nares	80232	WDR26	OMIM:617616
HP:0000463	Anteverted nares	8443	GNPAT	OMIM:222765
HP:0000463	Anteverted nares	89910	UBE3B	OMIM:244450
HP:0000463	Anteverted nares	51506	UFC1	OMIM:618076
HP:0000463	Anteverted nares	9442	MED27	OMIM:619286
HP:0000463	Anteverted nares	2314	FLII	ORPHA:819
HP:0000463	Anteverted nares	23096	IQSEC2	ORPHA:819
HP:0000463	Anteverted nares	10743	RAI1	ORPHA:819
HP:0000463	Anteverted nares	10522	DEAF1	ORPHA:819
HP:0000463	Anteverted nares	1717	DHCR7	ORPHA:818
HP:0000463	Anteverted nares	1717	DHCR7	OMIM:270400
HP:0000463	Anteverted nares	10225	CD96	OMIM:211750
HP:0000463	Anteverted nares	10225	CD96	ORPHA:1308
HP:0000463	Anteverted nares	9382	COG1	OMIM:611209
HP:0000463	Anteverted nares	6197	RPS6KA3	OMIM:303600
HP:0000463	Anteverted nares	6197	RPS6KA3	ORPHA:192
HP:0000463	Anteverted nares	56992	KIF15	ORPHA:261323
HP:0000463	Anteverted nares	64324	NSD1	OMIM:117550
HP:0000463	Anteverted nares	9739	SETD1A	OMIM:619056
HP:0000463	Anteverted nares	5119	CHMP1A	OMIM:614961
HP:0000463	Anteverted nares	93627	TBCK	OMIM:616900
HP:0000463	Anteverted nares	8289	ARID1A	OMIM:614607
HP:0000463	Anteverted nares	8289	ARID1A	ORPHA:1465
HP:0000463	Anteverted nares	2200	FBN1	ORPHA:969
HP:0000463	Anteverted nares	2200	FBN1	ORPHA:2462
HP:0000463	Anteverted nares	2200	FBN1	OMIM:102370
HP:0000463	Anteverted nares	4054	LTBP3	ORPHA:969
HP:0000463	Anteverted nares	4054	LTBP3	OMIM:617809
HP:0000463	Anteverted nares	546	ATRX	ORPHA:847
HP:0000463	Anteverted nares	546	ATRX	OMIM:309580
HP:0000463	Anteverted nares	546	ATRX	OMIM:301040
HP:0000463	Anteverted nares	6598	SMARCB1	OMIM:614608
HP:0000463	Anteverted nares	6598	SMARCB1	ORPHA:1465
HP:0000463	Anteverted nares	6597	SMARCA4	OMIM:614609
HP:0000463	Anteverted nares	6597	SMARCA4	ORPHA:1465
HP:0000463	Anteverted nares	55697	VAC14	ORPHA:3472
HP:0000463	Anteverted nares	26053	AUTS2	ORPHA:352490
HP:0000463	Anteverted nares	26053	AUTS2	OMIM:615834
HP:0000463	Anteverted nares	23036	ZNF292	OMIM:619188
HP:0000463	Anteverted nares	6885	MAP3K7	OMIM:157800
HP:0000463	Anteverted nares	1954	MEGF8	OMIM:614976
HP:0000463	Anteverted nares	124512	METTL23	OMIM:615942
HP:0000463	Anteverted nares	2752	GLUL	OMIM:610015
HP:0000463	Anteverted nares	25942	SIN3A	OMIM:613406
HP:0000463	Anteverted nares	3425	IDUA	OMIM:607014
HP:0000463	Anteverted nares	3425	IDUA	ORPHA:93473
HP:0000463	Anteverted nares	3265	HRAS	OMIM:218040
HP:0000463	Anteverted nares	3265	HRAS	OMIM:137550
HP:0000463	Anteverted nares	7025	NR2F1	ORPHA:401777
HP:0000463	Anteverted nares	7025	NR2F1	OMIM:615722
HP:0000463	Anteverted nares	5063	PAK3	OMIM:300558
HP:0000463	Anteverted nares	56006	SMG9	OMIM:616920
HP:0000463	Anteverted nares	1857	DVL3	ORPHA:3107
HP:0000463	Anteverted nares	1857	DVL3	OMIM:616894
HP:0000463	Anteverted nares	2535	FZD2	ORPHA:3107
HP:0000463	Anteverted nares	285175	UNC80	OMIM:616801
HP:0000463	Anteverted nares	285175	UNC80	ORPHA:371364
HP:0000463	Anteverted nares	3211	HOXB1	OMIM:614744
HP:0000463	Anteverted nares	54499	TMCO1	OMIM:213980
HP:0000463	Anteverted nares	9719	ADAMTSL2	OMIM:231050
HP:0000463	Anteverted nares	11128	POLR3A	OMIM:264090
HP:0000463	Anteverted nares	11128	POLR3A	ORPHA:3455
HP:0000463	Anteverted nares	55165	CEP55	OMIM:236500
HP:0000463	Anteverted nares	1280	COL2A1	OMIM:108300
HP:0000463	Anteverted nares	84992	PIGY	OMIM:616809
HP:0000463	Anteverted nares	5594	MAPK1	OMIM:619087
HP:0000463	Anteverted nares	471	ATIC	OMIM:608688
HP:0000463	Anteverted nares	51085	MLXIPL	OMIM:194050
HP:0000463	Anteverted nares	2006	ELN	OMIM:194050
HP:0000463	Anteverted nares	55691	FRMD4A	OMIM:616819
HP:0000463	Anteverted nares	55691	FRMD4A	ORPHA:466688
HP:0000463	Anteverted nares	63895	PIEZO2	OMIM:248700
HP:0000463	Anteverted nares	55670	PEX26	ORPHA:44
HP:0000463	Anteverted nares	5824	PEX19	ORPHA:44
HP:0000463	Anteverted nares	5828	PEX2	ORPHA:44
HP:0000463	Anteverted nares	8504	PEX3	ORPHA:44
HP:0000463	Anteverted nares	9409	PEX16	ORPHA:44
HP:0000463	Anteverted nares	5190	PEX6	ORPHA:44
HP:0000463	Anteverted nares	8799	PEX11B	ORPHA:44
HP:0000463	Anteverted nares	5193	PEX12	ORPHA:44
HP:0000463	Anteverted nares	5194	PEX13	ORPHA:44
HP:0000463	Anteverted nares	5194	PEX13	OMIM:614883
HP:0000463	Anteverted nares	5195	PEX14	ORPHA:44
HP:0000463	Anteverted nares	5192	PEX10	ORPHA:44
HP:0000463	Anteverted nares	9652	SKIC3	OMIM:222470
HP:0000463	Anteverted nares	1836	SLC26A2	ORPHA:93298
HP:0000463	Anteverted nares	9321	TRIP11	ORPHA:93299
HP:0000463	Anteverted nares	9321	TRIP11	OMIM:200600
HP:0000463	Anteverted nares	79791	FBXO31	OMIM:615979
HP:0000463	Anteverted nares	85440	DOCK7	OMIM:615859
HP:0000463	Anteverted nares	85440	DOCK7	ORPHA:411986
HP:0000463	Anteverted nares	701	BUB1B	OMIM:257300
HP:0000463	Anteverted nares	117581	TWIST2	ORPHA:920
HP:0000463	Anteverted nares	117581	TWIST2	ORPHA:1231
HP:0000463	Anteverted nares	117581	TWIST2	OMIM:209885
HP:0000463	Anteverted nares	55023	PHIP	ORPHA:589905
HP:0000463	Anteverted nares	55023	PHIP	OMIM:617991
HP:0000463	Anteverted nares	2702	GJA5	OMIM:612474
HP:0000463	Anteverted nares	2703	GJA8	OMIM:612474
HP:0000463	Anteverted nares	867	CBL	OMIM:613563
HP:0000463	Anteverted nares	51025	PAM16	OMIM:613320
HP:0000463	Anteverted nares	51053	GMNN	OMIM:616835
HP:0000463	Anteverted nares	2245	FGD1	ORPHA:915
HP:0000463	Anteverted nares	2245	FGD1	OMIM:305400
HP:0000463	Anteverted nares	6497	SKI	ORPHA:2462
HP:0000463	Anteverted nares	6497	SKI	OMIM:182212
HP:0000463	Anteverted nares	6664	SOX11	OMIM:615866
HP:0000463	Anteverted nares	6664	SOX11	ORPHA:1465
HP:0000463	Anteverted nares	55906	ZC4H2	OMIM:301041
HP:0000463	Anteverted nares	55906	ZC4H2	OMIM:314580
HP:0000463	Anteverted nares	100151683	RNU4ATAC	OMIM:210710
HP:0000463	Anteverted nares	100151683	RNU4ATAC	OMIM:616651
HP:0000463	Anteverted nares	23394	ADNP	OMIM:615873
HP:0000463	Anteverted nares	1788	DNMT3A	OMIM:615879
HP:0000463	Anteverted nares	23028	KDM1A	OMIM:616728
HP:0000463	Anteverted nares	23028	KDM1A	ORPHA:477993
HP:0000463	Anteverted nares	5160	PDHA1	OMIM:312170
HP:0000463	Anteverted nares	84162	BLTP1	OMIM:617822
HP:0000463	Anteverted nares	3097	HIVEP2	OMIM:616977
HP:0000463	Anteverted nares	5339	PLEC	OMIM:612138
HP:0000463	Anteverted nares	3767	KCNJ11	ORPHA:79134
HP:0000463	Anteverted nares	79731	NARS2	ORPHA:79134
HP:0000463	Anteverted nares	6833	ABCC8	ORPHA:79134
HP:0000463	Anteverted nares	5053	PAH	ORPHA:2209
HP:0000463	Anteverted nares	101929726	MYMX	ORPHA:1358
HP:0000463	Anteverted nares	101929726	MYMX	OMIM:619941
HP:0000463	Anteverted nares	10265	IRX5	OMIM:611174
HP:0000463	Anteverted nares	6602	SMARCD1	ORPHA:1465
HP:0000463	Anteverted nares	57492	ARID1B	ORPHA:1465
HP:0000463	Anteverted nares	196528	ARID2	ORPHA:1465
HP:0000463	Anteverted nares	6605	SMARCE1	ORPHA:1465
HP:0000463	Anteverted nares	134701	RIPPLY2	ORPHA:2311
HP:0000463	Anteverted nares	10683	DLL3	ORPHA:2311
HP:0000463	Anteverted nares	3955	LFNG	ORPHA:2311
HP:0000463	Anteverted nares	84667	HES7	ORPHA:2311
HP:0000463	Anteverted nares	145873	MESP2	ORPHA:2311
HP:0000463	Anteverted nares	91137	SLC25A46	OMIM:616505
HP:0000463	Anteverted nares	5604	MAP2K1	ORPHA:1340
HP:0000463	Anteverted nares	5605	MAP2K2	ORPHA:1340
HP:0000463	Anteverted nares	57211	ADGRG6	OMIM:616503
HP:0000463	Anteverted nares	2248	FGF3	ORPHA:2791
HP:0000463	Anteverted nares	2138	EYA1	ORPHA:2792
HP:0000463	Anteverted nares	5075	PAX1	ORPHA:2792
HP:0000463	Anteverted nares	79583	TMEM231	ORPHA:2318
HP:0000463	Anteverted nares	51524	TMEM138	ORPHA:2318
HP:0000463	Anteverted nares	23090	ZNF423	ORPHA:2318
HP:0000463	Anteverted nares	80184	CEP290	ORPHA:2318
HP:0000463	Anteverted nares	51259	TMEM216	ORPHA:2318
HP:0000463	Anteverted nares	57545	CC2D2A	ORPHA:2318
HP:0000463	Anteverted nares	57545	CC2D2A	ORPHA:1454
HP:0000463	Anteverted nares	10943	MSL3	OMIM:301032
HP:0000463	Anteverted nares	5745	PTH1R	ORPHA:50945
HP:0000463	Anteverted nares	8985	PLOD3	OMIM:612394
HP:0000463	Anteverted nares	128637	TBC1D20	OMIM:615663
HP:0000463	Anteverted nares	128637	TBC1D20	ORPHA:2510
HP:0000463	Anteverted nares	175	AGA	OMIM:208400
HP:0000463	Anteverted nares	55210	ATAD3A	OMIM:618810
HP:0000463	Anteverted nares	9419	CRIPT	OMIM:615789
HP:0000463	Anteverted nares	6638	SNRPN	ORPHA:177907
HP:0000463	Anteverted nares	2313	FLI1	ORPHA:2308
HP:0000463	Anteverted nares	60	ACTB	OMIM:243310
HP:0000463	Anteverted nares	23476	BRD4	ORPHA:199
HP:0000463	Anteverted nares	10664	CTCF	ORPHA:363611
HP:0000463	Anteverted nares	10367	MICU1	OMIM:615673
HP:0000463	Anteverted nares	7204	TRIO	OMIM:618825
HP:0000463	Anteverted nares	1861	TOR1A	OMIM:618947
HP:0000463	Anteverted nares	4329	ALDH6A1	OMIM:614105
HP:0000463	Anteverted nares	5293	PIK3CD	ORPHA:221139
HP:0000463	Anteverted nares	90417	KNSTRN	ORPHA:221139
HP:0000463	Anteverted nares	8405	SPOP	OMIM:618829
HP:0000463	Anteverted nares	6925	TCF4	ORPHA:2896
HP:0000463	Anteverted nares	23545	ATP6V0A2	OMIM:219200
HP:0000463	Anteverted nares	23545	ATP6V0A2	ORPHA:357074
HP:0000463	Anteverted nares	23630	KCNE5	ORPHA:86818
HP:0000463	Anteverted nares	2182	ACSL4	ORPHA:86818
HP:0000463	Anteverted nares	9949	AMMECR1	ORPHA:86818
HP:0000463	Anteverted nares	284252	KCTD1	OMIM:181270
HP:0000463	Anteverted nares	4893	NRAS	OMIM:137550
HP:0000463	Anteverted nares	51124	IER3IP1	OMIM:614231
HP:0000463	Anteverted nares	6911	TBX6	ORPHA:1797
HP:0000463	Anteverted nares	202018	TAPT1	OMIM:616897
HP:0000463	Anteverted nares	1806	DPYD	ORPHA:1675
HP:0000463	Anteverted nares	3832	KIF11	ORPHA:2526
HP:0000463	Anteverted nares	3832	KIF11	OMIM:152950
HP:0000463	Anteverted nares	100506658	OCLN	OMIM:251290
HP:0000463	Anteverted nares	3756	KCNH1	ORPHA:420561
HP:0000463	Anteverted nares	126792	B3GALT6	ORPHA:536467
HP:0000463	Anteverted nares	5331	PLCB3	OMIM:618961
HP:0000463	Anteverted nares	9320	TRIP12	OMIM:617752
HP:0000463	Anteverted nares	523	ATP6V1A	ORPHA:357074
HP:0000463	Anteverted nares	529	ATP6V1E1	ORPHA:357074
HP:0000463	Anteverted nares	529	ATP6V1E1	OMIM:617402
HP:0000463	Anteverted nares	5879	RAC1	OMIM:617751
HP:0000463	Anteverted nares	5879	RAC1	ORPHA:500159
HP:0000463	Anteverted nares	26503	SLC17A5	OMIM:269920
HP:0000463	Anteverted nares	650	BMP2	OMIM:617877
HP:0000463	Anteverted nares	738	VPS51	OMIM:618606
HP:0000463	Anteverted nares	5449	POU1F1	OMIM:613038
HP:0000463	Anteverted nares	85378	TUBGCP6	ORPHA:2518
HP:0000463	Anteverted nares	27229	TUBGCP4	ORPHA:2518
HP:0000463	Anteverted nares	10733	PLK4	ORPHA:2518
HP:0000463	Anteverted nares	9939	RBM8A	OMIM:274000
HP:0000463	Anteverted nares	4848	CNOT2	OMIM:618608
HP:0000463	Anteverted nares	25782	RAB3GAP2	ORPHA:2510
HP:0000463	Anteverted nares	22931	RAB18	ORPHA:2510
HP:0000463	Anteverted nares	64131	XYLT1	ORPHA:1425
HP:0000463	Anteverted nares	124583	CANT1	ORPHA:1425
HP:0000463	Anteverted nares	23529	CLCF1	ORPHA:1545
HP:0000463	Anteverted nares	4204	MECP2	OMIM:300260
HP:0000463	Anteverted nares	57647	DHX37	OMIM:618731
HP:0000463	Anteverted nares	23404	EXOSC2	OMIM:617763
HP:0000463	Anteverted nares	672	BRCA1	OMIM:617883
HP:0000463	Anteverted nares	5087	PBX1	OMIM:617641
HP:0000463	Anteverted nares	92935	MARS2	OMIM:616430
HP:0000463	Anteverted nares	10082	GPC6	ORPHA:93329
HP:0000463	Anteverted nares	4858	NOVA2	OMIM:618859
HP:0000463	Anteverted nares	58499	ZNF462	OMIM:618619
HP:0000453	Choanal atresia	3476	IGBP1	OMIM:300472
HP:0000453	Choanal atresia	3476	IGBP1	ORPHA:52055
HP:0000453	Choanal atresia	2737	GLI3	ORPHA:672
HP:0000453	Choanal atresia	2737	GLI3	OMIM:146510
HP:0000453	Choanal atresia	8243	SMC1A	OMIM:301044
HP:0000453	Choanal atresia	8243	SMC1A	ORPHA:199
HP:0000453	Choanal atresia	4683	NBN	OMIM:251260
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:147950
HP:0000453	Choanal atresia	2260	FGFR1	ORPHA:280200
HP:0000453	Choanal atresia	2260	FGFR1	ORPHA:2645
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:166250
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:101600
HP:0000453	Choanal atresia	2904	GRIN2B	OMIM:613970
HP:0000453	Choanal atresia	5784	PTPN14	OMIM:613611
HP:0000453	Choanal atresia	2261	FGFR3	OMIM:612247
HP:0000453	Choanal atresia	2261	FGFR3	ORPHA:93262
HP:0000453	Choanal atresia	2261	FGFR3	ORPHA:2363
HP:0000453	Choanal atresia	57167	SALL4	OMIM:607323
HP:0000453	Choanal atresia	8626	TP63	OMIM:604292
HP:0000453	Choanal atresia	8626	TP63	ORPHA:1896
HP:0000453	Choanal atresia	5447	POR	ORPHA:95699
HP:0000453	Choanal atresia	5447	POR	OMIM:207410
HP:0000453	Choanal atresia	5447	POR	OMIM:201750
HP:0000453	Choanal atresia	6299	SALL1	OMIM:107480
HP:0000453	Choanal atresia	613	BCR	ORPHA:261330
HP:0000453	Choanal atresia	1399	CRKL	ORPHA:261330
HP:0000453	Choanal atresia	5594	MAPK1	ORPHA:261330
HP:0000453	Choanal atresia	1723	DHODH	OMIM:263750
HP:0000453	Choanal atresia	473	RERE	OMIM:616975
HP:0000453	Choanal atresia	473	RERE	ORPHA:494344
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:207410
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:87
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:93260
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:207
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:93259
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:1555
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:123790
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:2363
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:101600
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:101200
HP:0000453	Choanal atresia	169792	GLIS3	OMIM:610199
HP:0000453	Choanal atresia	1717	DHCR7	ORPHA:818
HP:0000453	Choanal atresia	999	CDH1	OMIM:119580
HP:0000453	Choanal atresia	55636	CHD7	ORPHA:138
HP:0000453	Choanal atresia	55636	CHD7	OMIM:214800
HP:0000453	Choanal atresia	9723	SEMA3E	ORPHA:138
HP:0000453	Choanal atresia	56975	FAM20C	OMIM:259775
HP:0000453	Choanal atresia	28514	DLL1	ORPHA:280200
HP:0000453	Choanal atresia	2253	FGF8	ORPHA:280200
HP:0000453	Choanal atresia	6496	SIX3	ORPHA:280200
HP:0000453	Choanal atresia	7050	TGIF1	ORPHA:280200
HP:0000453	Choanal atresia	4838	NODAL	ORPHA:280200
HP:0000453	Choanal atresia	6469	SHH	ORPHA:280200
HP:0000453	Choanal atresia	6469	SHH	OMIM:147250
HP:0000453	Choanal atresia	51684	SUFU	ORPHA:280200
HP:0000453	Choanal atresia	7546	ZIC2	ORPHA:280200
HP:0000453	Choanal atresia	2619	GAS1	ORPHA:280200
HP:0000453	Choanal atresia	84976	DISP1	ORPHA:280200
HP:0000453	Choanal atresia	2736	GLI2	ORPHA:280200
HP:0000453	Choanal atresia	8928	FOXH1	ORPHA:280200
HP:0000453	Choanal atresia	5727	PTCH1	ORPHA:280200
HP:0000453	Choanal atresia	50937	CDON	ORPHA:280200
HP:0000453	Choanal atresia	4072	EPCAM	ORPHA:92050
HP:0000453	Choanal atresia	105371045	PERCC1	ORPHA:92050
HP:0000453	Choanal atresia	4784	NFIX	OMIM:602535
HP:0000453	Choanal atresia	4784	NFIX	ORPHA:561
HP:0000453	Choanal atresia	51360	MBTPS2	ORPHA:2273
HP:0000453	Choanal atresia	63925	ZNF335	OMIM:615095
HP:0000453	Choanal atresia	57492	ARID1B	OMIM:135900
HP:0000453	Choanal atresia	25885	POLR1A	OMIM:616462
HP:0000453	Choanal atresia	10606	PAICS	OMIM:619859
HP:0000453	Choanal atresia	9968	MED12	ORPHA:93932
HP:0000453	Choanal atresia	9968	MED12	OMIM:305450
HP:0000453	Choanal atresia	2077	ERF	ORPHA:207
HP:0000453	Choanal atresia	672	BRCA1	ORPHA:84
HP:0000453	Choanal atresia	10459	MAD2L2	ORPHA:84
HP:0000453	Choanal atresia	7516	XRCC2	ORPHA:84
HP:0000453	Choanal atresia	29089	UBE2T	ORPHA:84
HP:0000453	Choanal atresia	675	BRCA2	ORPHA:84
HP:0000453	Choanal atresia	55120	FANCL	ORPHA:84
HP:0000453	Choanal atresia	2177	FANCD2	ORPHA:84
HP:0000453	Choanal atresia	2175	FANCA	ORPHA:84
HP:0000453	Choanal atresia	2187	FANCB	ORPHA:84
HP:0000453	Choanal atresia	2176	FANCC	ORPHA:84
HP:0000453	Choanal atresia	2178	FANCE	ORPHA:84
HP:0000453	Choanal atresia	2188	FANCF	ORPHA:84
HP:0000453	Choanal atresia	2189	FANCG	ORPHA:84
HP:0000453	Choanal atresia	5888	RAD51	ORPHA:84
HP:0000453	Choanal atresia	5889	RAD51C	ORPHA:84
HP:0000453	Choanal atresia	55159	RFWD3	ORPHA:84
HP:0000453	Choanal atresia	83990	BRIP1	ORPHA:84
HP:0000453	Choanal atresia	57697	FANCM	ORPHA:84
HP:0000453	Choanal atresia	79728	PALB2	ORPHA:84
HP:0000453	Choanal atresia	84464	SLX4	ORPHA:84
HP:0000453	Choanal atresia	2072	ERCC4	ORPHA:84
HP:0000453	Choanal atresia	55215	FANCI	ORPHA:84
HP:0000453	Choanal atresia	1312	COMT	ORPHA:567
HP:0000453	Choanal atresia	221037	JMJD1C	ORPHA:567
HP:0000453	Choanal atresia	2812	GP1BB	ORPHA:567
HP:0000453	Choanal atresia	6239	RREB1	ORPHA:567
HP:0000453	Choanal atresia	6899	TBX1	ORPHA:567
HP:0000453	Choanal atresia	7290	HIRA	ORPHA:567
HP:0000453	Choanal atresia	9632	SEC24C	ORPHA:567
HP:0000453	Choanal atresia	7353	UFD1	ORPHA:567
HP:0000453	Choanal atresia	421	ARVCF	ORPHA:567
HP:0000453	Choanal atresia	2304	FOXE1	ORPHA:1226
HP:0000453	Choanal atresia	23347	SMCHD1	OMIM:603457
HP:0000453	Choanal atresia	51729	WBP11	OMIM:619227
HP:0000453	Choanal atresia	9343	EFTUD2	OMIM:610536
HP:0000453	Choanal atresia	23476	BRD4	ORPHA:199
HP:0000453	Choanal atresia	9126	SMC3	ORPHA:199
HP:0000453	Choanal atresia	25836	NIPBL	ORPHA:199
HP:0000453	Choanal atresia	25836	NIPBL	OMIM:122470
HP:0000453	Choanal atresia	55869	HDAC8	ORPHA:199
HP:0000453	Choanal atresia	5885	RAD21	ORPHA:199
HP:0000453	Choanal atresia	9791	PTDSS1	OMIM:151050
HP:0000453	Choanal atresia	9791	PTDSS1	ORPHA:2658
HP:0000453	Choanal atresia	6135	RPL11	OMIM:612562
HP:0000453	Choanal atresia	8239	USP9X	ORPHA:480880
HP:0000453	Choanal atresia	8239	USP9X	OMIM:300968
HP:0000453	Choanal atresia	9289	ADGRG1	ORPHA:98889
HP:0000453	Choanal atresia	5297	PI4KA	ORPHA:98889
HP:0000453	Choanal atresia	27286	SRPX2	ORPHA:98889
HP:0000453	Choanal atresia	8085	KMT2D	OMIM:620186
HP:0000453	Choanal atresia	10907	TXNL4A	OMIM:608572
HP:0000453	Choanal atresia	10653	SPINT2	OMIM:270420
HP:0000453	Choanal atresia	84172	POLR1B	ORPHA:861
HP:0000453	Choanal atresia	9533	POLR1C	ORPHA:861
HP:0000453	Choanal atresia	51082	POLR1D	ORPHA:861
HP:0000453	Choanal atresia	51082	POLR1D	OMIM:613717
HP:0000453	Choanal atresia	6949	TCOF1	ORPHA:861
HP:0000453	Choanal atresia	6949	TCOF1	OMIM:154500
HP:0000453	Choanal atresia	6558	SLC12A2	OMIM:619080
HP:0000453	Choanal atresia	8318	CDC45	OMIM:617063
HP:0000453	Choanal atresia	83737	ITCH	OMIM:613385
HP:0000453	Choanal atresia	83737	ITCH	ORPHA:228426
HP:0000453	Choanal atresia	2255	FGF10	ORPHA:2363
HP:0000453	Choanal atresia	7291	TWIST1	OMIM:617746
HP:0000453	Choanal atresia	6231	RPS26	OMIM:613309
HP:0000453	Choanal atresia	51322	WAC	ORPHA:284169
HP:0000453	Choanal atresia	5745	PTH1R	OMIM:156400
HP:0000453	Choanal atresia	3664	IRF6	ORPHA:1300
HP:0000453	Choanal atresia	4000	LMNA	ORPHA:1662
HP:0000453	Choanal atresia	10269	ZMPSTE24	ORPHA:1662
HP:0000453	Choanal atresia	10269	ZMPSTE24	OMIM:275210
HP:0000453	Choanal atresia	8481	OFD1	ORPHA:2750
HP:0000453	Choanal atresia	7473	WNT3	OMIM:273395
HP:0000453	Choanal atresia	26123	TCTN3	ORPHA:2753
HP:0000453	Choanal atresia	84168	ANTXR1	ORPHA:2067
HP:0000453	Choanal atresia	2542	SLC37A4	OMIM:619525
HP:0000453	Choanal atresia	79633	FAT4	ORPHA:314679
HP:0000453	Choanal atresia	8642	DCHS1	ORPHA:314679
HP:0004499	Chronic rhinitis due to narrow nasal airway	8600	TNFSF11	OMIM:259710
HP:0000837	Increased circulating gonadotropin level	340719	NANOS1	ORPHA:399808
HP:0000837	Increased circulating gonadotropin level	340719	NANOS1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	668	FOXL2	OMIM:110100
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	ORPHA:64739
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	OMIM:233300
HP:0000837	Increased circulating gonadotropin level	7490	WT1	ORPHA:347
HP:0000837	Increased circulating gonadotropin level	7490	WT1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	3973	LHCGR	OMIM:238320
HP:0000837	Increased circulating gonadotropin level	29893	PSMC3IP	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	171568	POLR3H	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	125150	ZSWIM7	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	9210	BMP15	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	57122	NUP107	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	23514	SPIDR	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	56945	MRPS22	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	646	BNC1	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2099	ESR1	ORPHA:785
HP:0000837	Increased circulating gonadotropin level	64072	CDH23	ORPHA:91347
HP:0000837	Increased circulating gonadotropin level	23395	LARS2	OMIM:615300
HP:0000837	Increased circulating gonadotropin level	2332	FMR1	OMIM:311360
HP:0000837	Increased circulating gonadotropin level	6736	SRY	ORPHA:1772
HP:0000837	Increased circulating gonadotropin level	6736	SRY	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	3295	HSD17B4	OMIM:233400
HP:0000837	Increased circulating gonadotropin level	6662	SOX9	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	6845	VAMP7	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	51741	WWOX	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	4214	MAP3K1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	58524	DMRT3	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	57647	DHX37	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	23414	ZFPM2	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	190	NR0B1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	2626	GATA4	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	5422	POLA1	ORPHA:163976
HP:0000837	Increased circulating gonadotropin level	56154	TEX15	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	6875	TAF4B	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	56155	TEX14	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	7516	XRCC2	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	254528	MEIOB	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	91057	CCDC34	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	402381	SOHLH1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	317719	KLHL10	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	56159	TEX11	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	57697	FANCM	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	1080	CFTR	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	84225	ZMYND15	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	122402	TDRD9	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	154197	PNLDC1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	93426	SYCE1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	50511	SYCP3	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	1586	CYP17A1	ORPHA:90793
HP:0000837	Increased circulating gonadotropin level	50846	DHH	ORPHA:168563
HP:0000837	Increased circulating gonadotropin level	8468	FKBP6	OMIM:620103
HP:0000837	Increased circulating gonadotropin level	7555	CNBP	OMIM:602668
HP:0000837	Increased circulating gonadotropin level	3972	LHB	OMIM:228300
HP:0000837	Increased circulating gonadotropin level	254394	MCM9	OMIM:616185
HP:0000837	Increased circulating gonadotropin level	2074	ERCC6	OMIM:616946
HP:0000837	Increased circulating gonadotropin level	84733	CBX2	OMIM:613080
HP:0000837	Increased circulating gonadotropin level	4439	MSH5	OMIM:617442
HP:0000837	Increased circulating gonadotropin level	158401	SHOC1	OMIM:619949
HP:0000837	Increased circulating gonadotropin level	2245	FGD1	OMIM:305400
HP:0000837	Increased circulating gonadotropin level	286053	NSMCE2	OMIM:617253
HP:0000837	Increased circulating gonadotropin level	1730	DIAPH2	OMIM:300511
HP:0000837	Increased circulating gonadotropin level	2100	ESR2	OMIM:618187
HP:0000837	Increased circulating gonadotropin level	4438	MSH4	OMIM:619938
HP:0000837	Increased circulating gonadotropin level	1583	CYP11A1	ORPHA:168558
HP:0000837	Increased circulating gonadotropin level	1583	CYP11A1	ORPHA:289548
HP:0000837	Increased circulating gonadotropin level	8192	CLPP	OMIM:614129
HP:0000837	Increased circulating gonadotropin level	84515	MCM8	OMIM:612885
HP:0000837	Increased circulating gonadotropin level	1528	CYB5A	OMIM:250790
HP:0000837	Increased circulating gonadotropin level	1528	CYB5A	ORPHA:90796
HP:0000837	Increased circulating gonadotropin level	658	BMPR1B	OMIM:609441
HP:0000837	Increased circulating gonadotropin level	5447	POR	ORPHA:95699
HP:0000837	Increased circulating gonadotropin level	367	AR	OMIM:300068
HP:0000837	Increased circulating gonadotropin level	367	AR	ORPHA:90797
HP:0000837	Increased circulating gonadotropin level	367	AR	ORPHA:99429
HP:0000837	Increased circulating gonadotropin level	93953	GCNA	OMIM:301077
HP:0000837	Increased circulating gonadotropin level	2661	GDF9	OMIM:618014
HP:0000837	Increased circulating gonadotropin level	317761	C14orf39	OMIM:619203
HP:0000837	Increased circulating gonadotropin level	55012	PPP2R3C	OMIM:618419
HP:0000837	Increased circulating gonadotropin level	344018	FIGLA	OMIM:612310
HP:0000837	Increased circulating gonadotropin level	164045	HFM1	OMIM:615724
HP:0000837	Increased circulating gonadotropin level	84634	KISS1R	OMIM:176400
HP:0000837	Increased circulating gonadotropin level	10734	STAG3	OMIM:615723
HP:0000837	Increased circulating gonadotropin level	2488	FSHB	OMIM:229070
HP:0030348	Increased circulating androgen concentration	2778	GNAS	ORPHA:562
HP:0030348	Increased circulating androgen concentration	7026	NR2F2	OMIM:618901
HP:0030348	Increased circulating androgen concentration	2908	NR3C1	OMIM:615962
HP:0030348	Increased circulating androgen concentration	367	AR	ORPHA:90797
HP:0030348	Increased circulating androgen concentration	367	AR	ORPHA:99429
HP:0030348	Increased circulating androgen concentration	54361	WNT4	ORPHA:247768
HP:0030348	Increased circulating androgen concentration	2492	FSHR	ORPHA:64739
HP:0030348	Increased circulating androgen concentration	11128	POLR3A	OMIM:264090
HP:0030348	Increased circulating androgen concentration	11128	POLR3A	ORPHA:3455
HP:0030348	Increased circulating androgen concentration	3284	HSD3B2	ORPHA:90791
HP:0030348	Increased circulating androgen concentration	7840	ALMS1	ORPHA:64
HP:0030348	Increased circulating androgen concentration	1201	CLN3	ORPHA:228346
HP:0030348	Increased circulating androgen concentration	3643	INSR	ORPHA:769
HP:0030348	Increased circulating androgen concentration	29929	ALG6	ORPHA:79320
HP:0030348	Increased circulating androgen concentration	1584	CYP11B1	ORPHA:90795
HP:0030348	Increased circulating androgen concentration	84133	ZNRF3	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	7157	TP53	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	5573	PRKAR1A	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	1499	CTNNB1	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	1029	CDKN2A	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	7015	TERT	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	6875	TAF4B	OMIM:615841
HP:0030347	Abnormal circulating androgen level	84225	ZMYND15	OMIM:615842
HP:0030347	Abnormal circulating androgen level	2099	ESR1	ORPHA:785
HP:0030347	Abnormal circulating androgen level	93426	SYCE1	OMIM:616950
HP:0030347	Abnormal circulating androgen level	8468	FKBP6	OMIM:620103
HP:0030347	Abnormal circulating androgen level	4438	MSH4	OMIM:108420
HP:0030347	Abnormal circulating androgen level	201134	CEP112	OMIM:619044
HP:0030347	Abnormal circulating androgen level	2778	GNAS	ORPHA:562
HP:0030347	Abnormal circulating androgen level	7026	NR2F2	OMIM:618901
HP:0030347	Abnormal circulating androgen level	2908	NR3C1	OMIM:615962
HP:0030347	Abnormal circulating androgen level	367	AR	ORPHA:90797
HP:0030347	Abnormal circulating androgen level	367	AR	ORPHA:99429
HP:0030347	Abnormal circulating androgen level	54361	WNT4	ORPHA:247768
HP:0030347	Abnormal circulating androgen level	2492	FSHR	ORPHA:64739
HP:0030347	Abnormal circulating androgen level	11128	POLR3A	OMIM:264090
HP:0030347	Abnormal circulating androgen level	11128	POLR3A	ORPHA:3455
HP:0030347	Abnormal circulating androgen level	3284	HSD3B2	ORPHA:90791
HP:0030347	Abnormal circulating androgen level	7840	ALMS1	ORPHA:64
HP:0030347	Abnormal circulating androgen level	1201	CLN3	ORPHA:228346
HP:0030347	Abnormal circulating androgen level	3643	INSR	ORPHA:769
HP:0030347	Abnormal circulating androgen level	29929	ALG6	ORPHA:79320
HP:0030347	Abnormal circulating androgen level	1584	CYP11B1	ORPHA:90795
HP:0030347	Abnormal circulating androgen level	84133	ZNRF3	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	7157	TP53	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	5573	PRKAR1A	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1499	CTNNB1	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1029	CDKN2A	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	7015	TERT	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1583	CYP11A1	ORPHA:289548
HP:0030347	Abnormal circulating androgen level	1583	CYP11A1	ORPHA:168558
HP:0030347	Abnormal circulating androgen level	4791	NFKB2	ORPHA:293978
HP:0030347	Abnormal circulating androgen level	56246	MRAP	ORPHA:361
HP:0030347	Abnormal circulating androgen level	6770	STAR	ORPHA:361
HP:0030347	Abnormal circulating androgen level	4158	MC2R	ORPHA:361
HP:0030347	Abnormal circulating androgen level	23530	NNT	ORPHA:361
HP:0030347	Abnormal circulating androgen level	10587	TXNRD2	ORPHA:361
HP:0030347	Abnormal circulating androgen level	5447	POR	OMIM:201750
HP:0030347	Abnormal circulating androgen level	2260	FGFR1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	81848	SPRY4	ORPHA:432
HP:0030347	Abnormal circulating androgen level	128674	PROKR2	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2253	FGF8	ORPHA:432
HP:0030347	Abnormal circulating androgen level	60675	PROK2	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55636	CHD7	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6870	TACR3	ORPHA:432
HP:0030347	Abnormal circulating androgen level	1848	DUSP6	ORPHA:432
HP:0030347	Abnormal circulating androgen level	26012	NSMF	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55717	WDR11	ORPHA:432
HP:0030347	Abnormal circulating androgen level	9394	HS6ST1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2796	GNRH1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2796	GNRH1	OMIM:614841
HP:0030347	Abnormal circulating androgen level	2798	GNRHR	ORPHA:432
HP:0030347	Abnormal circulating androgen level	84634	KISS1R	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6866	TAC3	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6866	TAC3	OMIM:614839
HP:0030347	Abnormal circulating androgen level	8822	FGF17	ORPHA:432
HP:0030347	Abnormal circulating androgen level	3814	KISS1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55131	RBM28	ORPHA:157954
HP:0030347	Abnormal circulating androgen level	2245	FGD1	OMIM:305400
HP:0030347	Abnormal circulating androgen level	23312	DMXL2	ORPHA:453533
HP:0030347	Abnormal circulating androgen level	57647	DHX37	OMIM:273250
HP:0030347	Abnormal circulating androgen level	57647	DHX37	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	8314	BAP1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	4771	NF2	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6598	SMARCB1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	5155	PDGFB	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	84231	TRAF7	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6608	SMO	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	207	AKT1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	5290	PIK3CA	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	51684	SUFU	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6605	SMARCE1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	80067	DCAF17	ORPHA:3464
HP:0030347	Abnormal circulating androgen level	80067	DCAF17	OMIM:241080
HP:0030347	Abnormal circulating androgen level	2488	FSHB	ORPHA:52901
HP:0030347	Abnormal circulating androgen level	3972	LHB	OMIM:228300
HP:0030347	Abnormal circulating androgen level	1528	CYB5A	ORPHA:90796
HP:0030347	Abnormal circulating androgen level	1586	CYP17A1	ORPHA:90796
HP:0030347	Abnormal circulating androgen level	1586	CYP17A1	ORPHA:90793
HP:0030347	Abnormal circulating androgen level	1363	CPE	OMIM:619326
HP:0030347	Abnormal circulating androgen level	3952	LEP	ORPHA:66628
HP:0030347	Abnormal circulating androgen level	5422	POLA1	ORPHA:163976
HP:0030347	Abnormal circulating androgen level	79625	NDNF	OMIM:618841
HP:0030347	Abnormal circulating androgen level	57697	FANCM	OMIM:618086
HP:0030347	Abnormal circulating androgen level	654	BMP6	ORPHA:465508
HP:0030347	Abnormal circulating androgen level	3077	HFE	ORPHA:465508
HP:0030347	Abnormal circulating androgen level	55366	LGR4	OMIM:619613
HP:0030347	Abnormal circulating androgen level	2583	B4GALNT1	ORPHA:101006
HP:0030347	Abnormal circulating androgen level	2583	B4GALNT1	OMIM:609195
HP:0030347	Abnormal circulating androgen level	3730	ANOS1	OMIM:308700
HP:0030347	Abnormal circulating androgen level	93953	GCNA	OMIM:301077
HP:0030347	Abnormal circulating androgen level	55630	SLC39A4	OMIM:201100
HP:0030347	Abnormal circulating androgen level	389549	FEZF1	OMIM:616030
HP:0030347	Abnormal circulating androgen level	6736	SRY	ORPHA:1772
HP:0030347	Abnormal circulating androgen level	6736	SRY	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	3953	LEPR	ORPHA:179494
HP:0030347	Abnormal circulating androgen level	6662	SOX9	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	6845	VAMP7	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	51741	WWOX	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	4214	MAP3K1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	2516	NR5A1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	7490	WT1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	58524	DMRT3	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	23414	ZFPM2	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	190	NR0B1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	2626	GATA4	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	10371	SEMA3A	OMIM:614897
HP:0030347	Abnormal circulating androgen level	50846	DHH	ORPHA:168563
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2245	FGD1	OMIM:305400
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	286053	NSMCE2	OMIM:617253
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1730	DIAPH2	OMIM:300511
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	402381	SOHLH1	OMIM:617690
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2100	ESR2	OMIM:618187
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84515	MCM8	OMIM:612885
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57647	DHX37	OMIM:273250
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57647	DHX37	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	OMIM:612964
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	OMIM:612965
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8468	FKBP6	OMIM:620103
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	OMIM:400044
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	OMIM:400045
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5447	POR	ORPHA:95699
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7555	CNBP	OMIM:602668
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	317761	C14orf39	OMIM:619203
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3972	LHB	OMIM:228300
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1528	CYB5A	ORPHA:90796
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1586	CYP17A1	ORPHA:90793
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84225	ZMYND15	OMIM:615842
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	164045	HFM1	OMIM:615724
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84634	KISS1R	OMIM:176400
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	56945	MRPS22	OMIM:618117
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	10734	STAG3	OMIM:615723
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	668	FOXL2	ORPHA:572333
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	254394	MCM9	OMIM:616185
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57697	FANCM	OMIM:618086
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57697	FANCM	OMIM:618096
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	29893	PSMC3IP	OMIM:614324
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2074	ERCC6	OMIM:616946
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8192	CLPP	OMIM:614129
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	646	BNC1	OMIM:618723
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	658	BMPR1B	OMIM:609441
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84733	CBX2	OMIM:613080
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	93953	GCNA	OMIM:301077
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7516	XRCC2	OMIM:619146
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2661	GDF9	OMIM:618014
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23514	SPIDR	OMIM:619665
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4439	MSH5	OMIM:617442
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	55012	PPP2R3C	OMIM:618419
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	344018	FIGLA	OMIM:612310
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	158401	SHOC1	OMIM:619949
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6662	SOX9	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6845	VAMP7	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	51741	WWOX	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7490	WT1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	58524	DMRT3	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	190	NR0B1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2626	GATA4	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3730	ANOS1	OMIM:308700
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	389549	FEZF1	OMIM:616030
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5626	PROP1	OMIM:262600
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5626	PROP1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	59336	PRDM13	OMIM:619761
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	89884	LHX4	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8022	LHX3	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8820	HESX1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5015	OTX2	OMIM:613986
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1363	CPE	OMIM:619326
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4808	NHLH2	OMIM:619755
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	55366	LGR4	OMIM:619613
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3814	KISS1	OMIM:614842
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8314	BAP1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4771	NF2	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6608	SMO	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	207	AKT1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7015	TERT	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	51684	SUFU	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2488	FSHB	OMIM:229070
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6866	TAC3	OMIM:614839
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	93426	SYCE1	OMIM:616950
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	367	AR	ORPHA:99429
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	63901	FAM111A	ORPHA:93325
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4438	MSH4	OMIM:108420
HP:0030345	Abnormal circulating luteinizing hormone concentration	2245	FGD1	OMIM:305400
HP:0030345	Abnormal circulating luteinizing hormone concentration	286053	NSMCE2	OMIM:617253
HP:0030345	Abnormal circulating luteinizing hormone concentration	1730	DIAPH2	OMIM:300511
HP:0030345	Abnormal circulating luteinizing hormone concentration	402381	SOHLH1	OMIM:617690
HP:0030345	Abnormal circulating luteinizing hormone concentration	57697	FANCM	OMIM:618086
HP:0030345	Abnormal circulating luteinizing hormone concentration	2100	ESR2	OMIM:618187
HP:0030345	Abnormal circulating luteinizing hormone concentration	29893	PSMC3IP	OMIM:614324
HP:0030345	Abnormal circulating luteinizing hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0030345	Abnormal circulating luteinizing hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0030345	Abnormal circulating luteinizing hormone concentration	8192	CLPP	OMIM:614129
HP:0030345	Abnormal circulating luteinizing hormone concentration	84515	MCM8	OMIM:612885
HP:0030345	Abnormal circulating luteinizing hormone concentration	57647	DHX37	OMIM:273250
HP:0030345	Abnormal circulating luteinizing hormone concentration	57647	DHX37	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	OMIM:612964
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	OMIM:612965
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	OMIM:400044
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	OMIM:400045
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	1528	CYB5A	OMIM:250790
HP:0030345	Abnormal circulating luteinizing hormone concentration	1528	CYB5A	ORPHA:90796
HP:0030345	Abnormal circulating luteinizing hormone concentration	658	BMPR1B	OMIM:609441
HP:0030345	Abnormal circulating luteinizing hormone concentration	5447	POR	ORPHA:95699
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	OMIM:300068
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	ORPHA:90797
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	ORPHA:99429
HP:0030345	Abnormal circulating luteinizing hormone concentration	93953	GCNA	OMIM:301077
HP:0030345	Abnormal circulating luteinizing hormone concentration	7516	XRCC2	OMIM:619146
HP:0030345	Abnormal circulating luteinizing hormone concentration	2661	GDF9	OMIM:618014
HP:0030345	Abnormal circulating luteinizing hormone concentration	317761	C14orf39	OMIM:619203
HP:0030345	Abnormal circulating luteinizing hormone concentration	23514	SPIDR	OMIM:619665
HP:0030345	Abnormal circulating luteinizing hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0030345	Abnormal circulating luteinizing hormone concentration	1586	CYP17A1	ORPHA:90793
HP:0030345	Abnormal circulating luteinizing hormone concentration	55012	PPP2R3C	OMIM:618419
HP:0030345	Abnormal circulating luteinizing hormone concentration	344018	FIGLA	OMIM:612310
HP:0030345	Abnormal circulating luteinizing hormone concentration	164045	HFM1	OMIM:615724
HP:0030345	Abnormal circulating luteinizing hormone concentration	56945	MRPS22	OMIM:618117
HP:0030345	Abnormal circulating luteinizing hormone concentration	6662	SOX9	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	6845	VAMP7	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	51741	WWOX	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	7490	WT1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	58524	DMRT3	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	190	NR0B1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	2626	GATA4	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	10734	STAG3	OMIM:615723
HP:0030345	Abnormal circulating luteinizing hormone concentration	2488	FSHB	OMIM:229070
HP:0030345	Abnormal circulating luteinizing hormone concentration	668	FOXL2	ORPHA:572333
HP:0030345	Abnormal circulating luteinizing hormone concentration	3730	ANOS1	OMIM:308700
HP:0030345	Abnormal circulating luteinizing hormone concentration	389549	FEZF1	OMIM:616030
HP:0030345	Abnormal circulating luteinizing hormone concentration	5626	PROP1	OMIM:262600
HP:0030345	Abnormal circulating luteinizing hormone concentration	5626	PROP1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	3972	LHB	OMIM:228300
HP:0030345	Abnormal circulating luteinizing hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030345	Abnormal circulating luteinizing hormone concentration	59336	PRDM13	OMIM:619761
HP:0030345	Abnormal circulating luteinizing hormone concentration	89884	LHX4	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	8022	LHX3	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	8820	HESX1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	5015	OTX2	OMIM:613986
HP:0030345	Abnormal circulating luteinizing hormone concentration	4808	NHLH2	OMIM:619755
HP:0030345	Abnormal circulating luteinizing hormone concentration	55366	LGR4	OMIM:619613
HP:0030345	Abnormal circulating luteinizing hormone concentration	3814	KISS1	OMIM:614842
HP:0030345	Abnormal circulating luteinizing hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030345	Abnormal circulating luteinizing hormone concentration	8314	BAP1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	4771	NF2	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6608	SMO	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	207	AKT1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	7015	TERT	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	51684	SUFU	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	84634	KISS1R	OMIM:614837
HP:0030345	Abnormal circulating luteinizing hormone concentration	6866	TAC3	OMIM:614839
HP:0030345	Abnormal circulating luteinizing hormone concentration	6875	TAF4B	OMIM:615841
HP:0030345	Abnormal circulating luteinizing hormone concentration	84225	ZMYND15	OMIM:615842
HP:0030345	Abnormal circulating luteinizing hormone concentration	93426	SYCE1	OMIM:616950
HP:0030345	Abnormal circulating luteinizing hormone concentration	84733	CBX2	OMIM:613080
HP:0030345	Abnormal circulating luteinizing hormone concentration	8468	FKBP6	OMIM:620103
HP:0030345	Abnormal circulating luteinizing hormone concentration	4438	MSH4	OMIM:108420
HP:0030344	Decreased circulating luteinizing hormone level	3730	ANOS1	OMIM:308700
HP:0030344	Decreased circulating luteinizing hormone level	389549	FEZF1	OMIM:616030
HP:0030344	Decreased circulating luteinizing hormone level	5626	PROP1	OMIM:262600
HP:0030344	Decreased circulating luteinizing hormone level	5626	PROP1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	3972	LHB	OMIM:228300
HP:0030344	Decreased circulating luteinizing hormone level	23312	DMXL2	ORPHA:453533
HP:0030344	Decreased circulating luteinizing hormone level	59336	PRDM13	OMIM:619761
HP:0030344	Decreased circulating luteinizing hormone level	89884	LHX4	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	8022	LHX3	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	5449	POU1F1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	8820	HESX1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	5015	OTX2	OMIM:613986
HP:0030344	Decreased circulating luteinizing hormone level	4808	NHLH2	OMIM:619755
HP:0030344	Decreased circulating luteinizing hormone level	55366	LGR4	OMIM:619613
HP:0030344	Decreased circulating luteinizing hormone level	3814	KISS1	OMIM:614842
HP:0030344	Decreased circulating luteinizing hormone level	10371	SEMA3A	OMIM:614897
HP:0030344	Decreased circulating luteinizing hormone level	8314	BAP1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	4771	NF2	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6598	SMARCB1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	5155	PDGFB	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	84231	TRAF7	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6608	SMO	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	207	AKT1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	5290	PIK3CA	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	7015	TERT	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	51684	SUFU	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6605	SMARCE1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	84634	KISS1R	OMIM:614837
HP:0030344	Decreased circulating luteinizing hormone level	6866	TAC3	OMIM:614839
HP:0030341	Decreased circulating follicle stimulating hormone concentration	3730	ANOS1	OMIM:308700
HP:0030341	Decreased circulating follicle stimulating hormone concentration	389549	FEZF1	OMIM:616030
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5626	PROP1	OMIM:262600
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5626	PROP1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030341	Decreased circulating follicle stimulating hormone concentration	59336	PRDM13	OMIM:619761
HP:0030341	Decreased circulating follicle stimulating hormone concentration	89884	LHX4	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8022	LHX3	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8820	HESX1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5015	OTX2	OMIM:613986
HP:0030341	Decreased circulating follicle stimulating hormone concentration	1363	CPE	OMIM:619326
HP:0030341	Decreased circulating follicle stimulating hormone concentration	4808	NHLH2	OMIM:619755
HP:0030341	Decreased circulating follicle stimulating hormone concentration	55366	LGR4	OMIM:619613
HP:0030341	Decreased circulating follicle stimulating hormone concentration	3814	KISS1	OMIM:614842
HP:0030341	Decreased circulating follicle stimulating hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8314	BAP1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	4771	NF2	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6608	SMO	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	207	AKT1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	7015	TERT	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	51684	SUFU	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	2488	FSHB	OMIM:229070
HP:0030341	Decreased circulating follicle stimulating hormone concentration	84634	KISS1R	OMIM:614837
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6866	TAC3	OMIM:614839
HP:0030349	Decreased circulating androgen concentration	1583	CYP11A1	ORPHA:289548
HP:0030349	Decreased circulating androgen concentration	1583	CYP11A1	ORPHA:168558
HP:0030349	Decreased circulating androgen concentration	4791	NFKB2	ORPHA:293978
HP:0030349	Decreased circulating androgen concentration	5447	POR	ORPHA:95699
HP:0030349	Decreased circulating androgen concentration	2260	FGFR1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	81848	SPRY4	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	128674	PROKR2	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2253	FGF8	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	60675	PROK2	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55636	CHD7	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6870	TACR3	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	1848	DUSP6	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	26012	NSMF	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55717	WDR11	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	9394	HS6ST1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2796	GNRH1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2796	GNRH1	OMIM:614841
HP:0030349	Decreased circulating androgen concentration	2798	GNRHR	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	84634	KISS1R	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6866	TAC3	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6866	TAC3	OMIM:614839
HP:0030349	Decreased circulating androgen concentration	8822	FGF17	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	3814	KISS1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55131	RBM28	ORPHA:157954
HP:0030349	Decreased circulating androgen concentration	2245	FGD1	OMIM:305400
HP:0030349	Decreased circulating androgen concentration	23312	DMXL2	ORPHA:453533
HP:0030349	Decreased circulating androgen concentration	57647	DHX37	OMIM:273250
HP:0030349	Decreased circulating androgen concentration	57647	DHX37	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	8314	BAP1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	4771	NF2	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6598	SMARCB1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	5155	PDGFB	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	84231	TRAF7	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6608	SMO	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	207	AKT1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	5290	PIK3CA	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	7015	TERT	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	51684	SUFU	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6605	SMARCE1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	80067	DCAF17	ORPHA:3464
HP:0030349	Decreased circulating androgen concentration	80067	DCAF17	OMIM:241080
HP:0030349	Decreased circulating androgen concentration	2488	FSHB	ORPHA:52901
HP:0030349	Decreased circulating androgen concentration	3972	LHB	OMIM:228300
HP:0030349	Decreased circulating androgen concentration	1528	CYB5A	ORPHA:90796
HP:0030349	Decreased circulating androgen concentration	1586	CYP17A1	ORPHA:90796
HP:0030349	Decreased circulating androgen concentration	1586	CYP17A1	ORPHA:90793
HP:0030349	Decreased circulating androgen concentration	1363	CPE	OMIM:619326
HP:0030349	Decreased circulating androgen concentration	3952	LEP	ORPHA:66628
HP:0030349	Decreased circulating androgen concentration	5422	POLA1	ORPHA:163976
HP:0030349	Decreased circulating androgen concentration	3284	HSD3B2	ORPHA:90791
HP:0030349	Decreased circulating androgen concentration	79625	NDNF	OMIM:618841
HP:0030349	Decreased circulating androgen concentration	57697	FANCM	OMIM:618086
HP:0030349	Decreased circulating androgen concentration	654	BMP6	ORPHA:465508
HP:0030349	Decreased circulating androgen concentration	3077	HFE	ORPHA:465508
HP:0030349	Decreased circulating androgen concentration	55366	LGR4	OMIM:619613
HP:0030349	Decreased circulating androgen concentration	2583	B4GALNT1	ORPHA:101006
HP:0030349	Decreased circulating androgen concentration	2583	B4GALNT1	OMIM:609195
HP:0030349	Decreased circulating androgen concentration	3730	ANOS1	OMIM:308700
HP:0030349	Decreased circulating androgen concentration	93953	GCNA	OMIM:301077
HP:0030349	Decreased circulating androgen concentration	55630	SLC39A4	OMIM:201100
HP:0030349	Decreased circulating androgen concentration	389549	FEZF1	OMIM:616030
HP:0030349	Decreased circulating androgen concentration	6736	SRY	ORPHA:1772
HP:0030349	Decreased circulating androgen concentration	6736	SRY	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	3953	LEPR	ORPHA:179494
HP:0030349	Decreased circulating androgen concentration	6662	SOX9	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	6845	VAMP7	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	51741	WWOX	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	4214	MAP3K1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	2516	NR5A1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	7490	WT1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	58524	DMRT3	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	23414	ZFPM2	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	190	NR0B1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	2626	GATA4	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	10371	SEMA3A	OMIM:614897
HP:0030349	Decreased circulating androgen concentration	50846	DHH	ORPHA:168563
HP:0020131	Abnormal tubular basement membrane morphology	63929	XPNPEP3	OMIM:613159
HP:0020131	Abnormal tubular basement membrane morphology	4582	MUC1	OMIM:174000
HP:0020131	Abnormal tubular basement membrane morphology	51473	DCDC2	ORPHA:84081
HP:0020131	Abnormal tubular basement membrane morphology	91147	TMEM67	ORPHA:84081
HP:0020131	Abnormal tubular basement membrane morphology	4867	NPHP1	OMIM:266900
HP:0020132	Thickening of the tubular basement membrane	51473	DCDC2	ORPHA:84081
HP:0020132	Thickening of the tubular basement membrane	91147	TMEM67	ORPHA:84081
HP:0020132	Thickening of the tubular basement membrane	4867	NPHP1	OMIM:266900
HP:0020135	Myofibromatosis	5159	PDGFRB	OMIM:228550
HP:0020135	Myofibromatosis	5159	PDGFRB	OMIM:616592
HP:0020135	Myofibromatosis	4854	NOTCH3	OMIM:615293
HP:0020136	Anticardiolipin IgG antibody positivity	5580	PRKCD	OMIM:615559
HP:0020136	Anticardiolipin IgG antibody positivity	50619	DEF6	OMIM:619573
HP:0030351	Urticarial plaque	51816	ADA2	OMIM:615688
HP:0030350	Erythematous papule	84868	HAVCR2	ORPHA:86884
HP:0030350	Erythematous papule	4210	MEFV	ORPHA:3243
HP:0030350	Erythematous papule	56983	POGLUT1	ORPHA:79145
HP:0030350	Erythematous papule	3852	KRT5	ORPHA:79145
HP:0030350	Erythematous papule	3852	KRT5	ORPHA:79400
HP:0030350	Erythematous papule	23509	POFUT1	ORPHA:79145
HP:0030350	Erythematous papule	55851	PSENEN	ORPHA:79145
HP:0030350	Erythematous papule	1294	COL7A1	ORPHA:79410
HP:0030350	Erythematous papule	3861	KRT14	ORPHA:79400
HP:0030350	Erythematous papule	3815	KIT	ORPHA:79455
HP:0030350	Erythematous papule	64421	DCLRE1C	OMIM:602450
HP:0030350	Erythematous papule	7507	XPA	OMIM:278700
HP:0030353	Decreased serum insulin-like growth factor 1	9968	MED12	OMIM:301068
HP:0030353	Decreased serum insulin-like growth factor 1	2592	GALT	ORPHA:79239
HP:0030353	Decreased serum insulin-like growth factor 1	23387	SIK3	OMIM:618162
HP:0030353	Decreased serum insulin-like growth factor 1	55131	RBM28	ORPHA:157954
HP:0030353	Decreased serum insulin-like growth factor 1	4791	NFKB2	ORPHA:293978
HP:0030353	Decreased serum insulin-like growth factor 1	6609	SMPD1	ORPHA:77293
HP:0030353	Decreased serum insulin-like growth factor 1	9851	KIAA0753	OMIM:619476
HP:0030353	Decreased serum insulin-like growth factor 1	3483	IGFALS	ORPHA:140941
HP:0030353	Decreased serum insulin-like growth factor 1	3483	IGFALS	OMIM:615961
HP:0030353	Decreased serum insulin-like growth factor 1	6777	STAT5B	OMIM:618985
HP:0030353	Decreased serum insulin-like growth factor 1	5236	PGM1	OMIM:614921
HP:0030353	Decreased serum insulin-like growth factor 1	2688	GH1	OMIM:173100
HP:0030353	Decreased serum insulin-like growth factor 1	2688	GH1	OMIM:262400
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	ORPHA:314802
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	OMIM:604271
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	OMIM:262500
HP:0030353	Decreased serum insulin-like growth factor 1	9526	MPDU1	ORPHA:79323
HP:0030353	Decreased serum insulin-like growth factor 1	79087	ALG12	ORPHA:79324
HP:0030353	Decreased serum insulin-like growth factor 1	1513	CTSK	ORPHA:763
HP:0030353	Decreased serum insulin-like growth factor 1	3479	IGF1	OMIM:608747
HP:0030353	Decreased serum insulin-like growth factor 1	80067	DCAF17	OMIM:241080
HP:0030353	Decreased serum insulin-like growth factor 1	2692	GHRHR	OMIM:618157
HP:0030353	Decreased serum insulin-like growth factor 1	6658	SOX3	ORPHA:67045
HP:0030353	Decreased serum insulin-like growth factor 1	113179	ADAT3	ORPHA:363528
HP:0030353	Decreased serum insulin-like growth factor 1	55784	MCTP2	ORPHA:1596
HP:0030353	Decreased serum insulin-like growth factor 1	2693	GHSR	ORPHA:314811
HP:0030354	Abnormal circulating interferon concentration	6772	STAT1	ORPHA:391487
HP:0030354	Abnormal circulating interferon concentration	10043	TOM1	ORPHA:391487
HP:0030354	Abnormal circulating interferon concentration	3431	SP110	ORPHA:79124
HP:0030354	Abnormal circulating interferon concentration	5551	PRF1	ORPHA:540
HP:0030354	Abnormal circulating interferon concentration	8676	STX11	ORPHA:540
HP:0030354	Abnormal circulating interferon concentration	201294	UNC13D	ORPHA:540
HP:0030354	Abnormal circulating interferon concentration	6813	STXBP2	ORPHA:540
HP:0030354	Abnormal circulating interferon concentration	25939	SAMHD1	OMIM:612952
HP:0030354	Abnormal circulating interferon concentration	25939	SAMHD1	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	5696	PSMB8	OMIM:256040
HP:0030354	Abnormal circulating interferon concentration	10535	RNASEH2A	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	84153	RNASEH2C	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	79621	RNASEH2B	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	103	ADAR	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	11277	TREX1	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	100147744	RNU7-1	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	134353	LSM11	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	64135	IFIH1	ORPHA:51
HP:0030354	Abnormal circulating interferon concentration	6775	STAT4	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	3560	IL2RB	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	79722	ANKRD55	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	26191	PTPN22	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	919	CD247	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	3559	IL2RA	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	5771	PTPN2	ORPHA:85410
HP:0030354	Abnormal circulating interferon concentration	5422	POLA1	OMIM:301220
HP:0030355	Abnormal circulating interferon-gamma concentration	6772	STAT1	ORPHA:391487
HP:0030355	Abnormal circulating interferon-gamma concentration	10043	TOM1	ORPHA:391487
HP:0030355	Abnormal circulating interferon-gamma concentration	3431	SP110	ORPHA:79124
HP:0030355	Abnormal circulating interferon-gamma concentration	5551	PRF1	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	8676	STX11	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	201294	UNC13D	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	6813	STXBP2	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	25939	SAMHD1	OMIM:612952
HP:0030355	Abnormal circulating interferon-gamma concentration	25939	SAMHD1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	5696	PSMB8	OMIM:256040
HP:0030355	Abnormal circulating interferon-gamma concentration	10535	RNASEH2A	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	84153	RNASEH2C	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	79621	RNASEH2B	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	103	ADAR	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	11277	TREX1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	100147744	RNU7-1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	134353	LSM11	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	64135	IFIH1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	6775	STAT4	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	3560	IL2RB	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	79722	ANKRD55	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	26191	PTPN22	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	919	CD247	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	3559	IL2RA	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	5771	PTPN2	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	5422	POLA1	OMIM:301220
HP:0030356	Increased circulating interferon-gamma concentration	5551	PRF1	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	8676	STX11	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	201294	UNC13D	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	6813	STXBP2	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	25939	SAMHD1	OMIM:612952
HP:0030356	Increased circulating interferon-gamma concentration	25939	SAMHD1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	5696	PSMB8	OMIM:256040
HP:0030356	Increased circulating interferon-gamma concentration	10535	RNASEH2A	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	84153	RNASEH2C	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	79621	RNASEH2B	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	103	ADAR	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	11277	TREX1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	100147744	RNU7-1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	134353	LSM11	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	64135	IFIH1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	6775	STAT4	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	3560	IL2RB	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	79722	ANKRD55	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	26191	PTPN22	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	919	CD247	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	3559	IL2RA	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	5771	PTPN2	ORPHA:85410
HP:0030357	Small cell lung carcinoma	64324	NSD1	ORPHA:821
HP:0030357	Small cell lung carcinoma	29072	SETD2	ORPHA:821
HP:0030357	Small cell lung carcinoma	10297	APC2	ORPHA:821
HP:0030358	Non-small cell lung carcinoma	7157	TP53	OMIM:151623
HP:0030358	Non-small cell lung carcinoma	7157	TP53	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	137682	NDUFAF6	OMIM:618913
HP:0030358	Non-small cell lung carcinoma	8314	BAP1	OMIM:614327
HP:0030358	Non-small cell lung carcinoma	84133	ZNRF3	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	5573	PRKAR1A	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	1499	CTNNB1	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	1029	CDKN2A	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	7015	TERT	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	161742	SPRED1	ORPHA:137605
HP:0030358	Non-small cell lung carcinoma	5071	PRKN	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	3845	KRAS	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	3659	IRF1	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5002	SLC22A18	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	2074	ERCC6	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5290	PIK3CA	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1956	EGFR	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1548	CYP2A6	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	2064	ERBB2	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	356	FASLG	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5519	PPP2R1B	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	841	CASP8	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1326	MAP3K8	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	673	BRAF	OMIM:211980
HP:0030352	Abnormal serum insulin-like growth factor 1 level	4221	MEN1	ORPHA:99725
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9049	AIP	ORPHA:99725
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9049	AIP	OMIM:102200
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3480	IGF1R	OMIM:270450
HP:0030352	Abnormal serum insulin-like growth factor 1 level	5573	PRKAR1A	ORPHA:1359
HP:0030352	Abnormal serum insulin-like growth factor 1 level	50940	PDE11A	ORPHA:1359
HP:0030352	Abnormal serum insulin-like growth factor 1 level	83550	GPR101	OMIM:300942
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9968	MED12	OMIM:301068
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2592	GALT	ORPHA:79239
HP:0030352	Abnormal serum insulin-like growth factor 1 level	23387	SIK3	OMIM:618162
HP:0030352	Abnormal serum insulin-like growth factor 1 level	55131	RBM28	ORPHA:157954
HP:0030352	Abnormal serum insulin-like growth factor 1 level	4791	NFKB2	ORPHA:293978
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6609	SMPD1	ORPHA:77293
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9851	KIAA0753	OMIM:619476
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3483	IGFALS	ORPHA:140941
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3483	IGFALS	OMIM:615961
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6777	STAT5B	OMIM:618985
HP:0030352	Abnormal serum insulin-like growth factor 1 level	5236	PGM1	OMIM:614921
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2688	GH1	OMIM:173100
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2688	GH1	OMIM:262400
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	ORPHA:314802
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	OMIM:604271
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	OMIM:262500
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9526	MPDU1	ORPHA:79323
HP:0030352	Abnormal serum insulin-like growth factor 1 level	79087	ALG12	ORPHA:79324
HP:0030352	Abnormal serum insulin-like growth factor 1 level	1513	CTSK	ORPHA:763
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3479	IGF1	OMIM:608747
HP:0030352	Abnormal serum insulin-like growth factor 1 level	80067	DCAF17	OMIM:241080
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2692	GHRHR	OMIM:618157
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6658	SOX3	ORPHA:67045
HP:0030352	Abnormal serum insulin-like growth factor 1 level	113179	ADAT3	ORPHA:363528
HP:0030352	Abnormal serum insulin-like growth factor 1 level	55784	MCTP2	ORPHA:1596
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2693	GHSR	ORPHA:314811
HP:0030361	Abnormal circulating eicosanoid concentration	6557	SLC12A1	OMIM:601678
HP:0030361	Abnormal circulating eicosanoid concentration	3758	KCNJ1	OMIM:241200
HP:0030361	Abnormal circulating eicosanoid concentration	4056	LTC4S	OMIM:614037
HP:0030361	Abnormal circulating eicosanoid concentration	5321	PLA2G4A	OMIM:618372
HP:0030362	Reduced muscle carnitine level	6584	SLC22A5	OMIM:212140
HP:0030367	Finger hyperphalangy	23483	TGDS	OMIM:616145
HP:0030368	Hyperphalangy of the 2nd finger	23483	TGDS	OMIM:616145
HP:0030369	Induced vaginal delivery	1583	CYP11A1	ORPHA:289548
HP:0030369	Induced vaginal delivery	1583	CYP11A1	ORPHA:168558
HP:0020151	Anti-dsDNA antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0020151	Anti-dsDNA antibody positivity	54	ACP5	ORPHA:1855
HP:0020151	Anti-dsDNA antibody positivity	8651	SOCS1	OMIM:619375
HP:0020152	Distal joint laxity	1311	COMP	ORPHA:750
HP:0020152	Distal joint laxity	1305	COL13A1	OMIM:616720
HP:0020152	Distal joint laxity	79912	PYROXD1	OMIM:617258
HP:0020152	Distal joint laxity	85365	ALG2	OMIM:616228
HP:0020152	Distal joint laxity	1303	COL12A1	OMIM:616471
HP:0020152	Distal joint laxity	1291	COL6A1	OMIM:254090
HP:0020152	Distal joint laxity	1292	COL6A2	OMIM:254090
HP:0020152	Distal joint laxity	1293	COL6A3	OMIM:254090
HP:0020152	Distal joint laxity	5351	PLOD1	ORPHA:1900
HP:0020154	Nevus comedonicus	91754	NEK9	OMIM:617025
HP:0020155	Abnormal oocyte morphology	24145	PANX1	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	494551	WEE2	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	197135	PATL2	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	347688	TUBB8	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	7783	ZP2	OMIM:618353
HP:0020156	Abnormal zona pellucida morphology	7783	ZP2	OMIM:618353
HP:0020157	Thin zona pellucida	7783	ZP2	OMIM:618353
HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	4808	NHLH2	OMIM:619755
HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	389549	FEZF1	OMIM:616030
HP:0030373	Abnormal proportion of memory B cells	1503	CTPS1	OMIM:615897
HP:0030373	Abnormal proportion of memory B cells	2000	ELF4	OMIM:301074
HP:0030373	Abnormal proportion of memory B cells	3551	IKBKB	OMIM:618204
HP:0030373	Abnormal proportion of memory B cells	9138	ARHGEF1	OMIM:618459
HP:0030373	Abnormal proportion of memory B cells	10043	TOM1	OMIM:619510
HP:0030373	Abnormal proportion of memory B cells	51371	POMP	OMIM:618048
HP:0030373	Abnormal proportion of memory B cells	3431	SP110	ORPHA:79124
HP:0030373	Abnormal proportion of memory B cells	60468	BACH2	OMIM:618394
HP:0030373	Abnormal proportion of memory B cells	5966	REL	OMIM:619652
HP:0030373	Abnormal proportion of memory B cells	54790	TET2	OMIM:619126
HP:0030373	Abnormal proportion of memory B cells	930	CD19	OMIM:613493
HP:0030373	Abnormal proportion of memory B cells	3937	LCP2	OMIM:619374
HP:0030373	Abnormal proportion of memory B cells	8651	SOCS1	OMIM:619375
HP:0030373	Abnormal proportion of memory B cells	10525	HYOU1	OMIM:233600
HP:0030373	Abnormal proportion of memory B cells	96459	FNIP1	OMIM:619705
HP:0030373	Abnormal proportion of memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030373	Abnormal proportion of memory B cells	5580	PRKCD	OMIM:615559
HP:0030373	Abnormal proportion of memory B cells	5336	PLCG2	OMIM:614878
HP:0030373	Abnormal proportion of memory B cells	5293	PIK3CD	OMIM:615513
HP:0030373	Abnormal proportion of memory B cells	3570	IL6R	OMIM:618944
HP:0030373	Abnormal proportion of memory B cells	987	LRBA	OMIM:614700
HP:0030373	Abnormal proportion of memory B cells	59067	IL21	OMIM:615767
HP:0030373	Abnormal proportion of memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030373	Abnormal proportion of memory B cells	29851	ICOS	OMIM:607594
HP:0030379	Abnormal proportion of transitional B cells	5295	PIK3R1	OMIM:616005
HP:0030379	Abnormal proportion of transitional B cells	5293	PIK3CD	OMIM:615513
HP:0030379	Abnormal proportion of transitional B cells	9138	ARHGEF1	OMIM:618459
HP:0030374	Decreased proportion of memory B cells	1503	CTPS1	OMIM:615897
HP:0030374	Decreased proportion of memory B cells	2000	ELF4	OMIM:301074
HP:0030374	Decreased proportion of memory B cells	3551	IKBKB	OMIM:618204
HP:0030374	Decreased proportion of memory B cells	9138	ARHGEF1	OMIM:618459
HP:0030374	Decreased proportion of memory B cells	10043	TOM1	OMIM:619510
HP:0030374	Decreased proportion of memory B cells	51371	POMP	OMIM:618048
HP:0030374	Decreased proportion of memory B cells	3431	SP110	ORPHA:79124
HP:0030374	Decreased proportion of memory B cells	60468	BACH2	OMIM:618394
HP:0030374	Decreased proportion of memory B cells	5966	REL	OMIM:619652
HP:0030374	Decreased proportion of memory B cells	54790	TET2	OMIM:619126
HP:0030374	Decreased proportion of memory B cells	930	CD19	OMIM:613493
HP:0030374	Decreased proportion of memory B cells	3937	LCP2	OMIM:619374
HP:0030374	Decreased proportion of memory B cells	8651	SOCS1	OMIM:619375
HP:0030374	Decreased proportion of memory B cells	10525	HYOU1	OMIM:233600
HP:0030374	Decreased proportion of memory B cells	96459	FNIP1	OMIM:619705
HP:0030374	Decreased proportion of memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030374	Decreased proportion of memory B cells	5580	PRKCD	OMIM:615559
HP:0030374	Decreased proportion of memory B cells	5336	PLCG2	OMIM:614878
HP:0030374	Decreased proportion of memory B cells	5293	PIK3CD	OMIM:615513
HP:0030374	Decreased proportion of memory B cells	3570	IL6R	OMIM:618944
HP:0030374	Decreased proportion of memory B cells	987	LRBA	OMIM:614700
HP:0030374	Decreased proportion of memory B cells	59067	IL21	OMIM:615767
HP:0030374	Decreased proportion of memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030374	Decreased proportion of memory B cells	29851	ICOS	OMIM:607594
HP:0020169	Abnormal drug response	1066	CES1	OMIM:618057
HP:0020169	Abnormal drug response	4210	MEFV	ORPHA:3243
HP:0030381	Increased proportion of transitional B cells	5295	PIK3R1	OMIM:616005
HP:0030381	Increased proportion of transitional B cells	5293	PIK3CD	OMIM:615513
HP:0030381	Increased proportion of transitional B cells	9138	ARHGEF1	OMIM:618459
HP:0030383	Abnormal proportion of marginal zone B cells	8651	SOCS1	OMIM:619375
HP:0030384	Decreased proportion of marginal zone B cells	8651	SOCS1	OMIM:619375
HP:0030386	Abnormal proportion of class-switched memory B cells	5966	REL	OMIM:619652
HP:0030386	Abnormal proportion of class-switched memory B cells	54790	TET2	OMIM:619126
HP:0030386	Abnormal proportion of class-switched memory B cells	930	CD19	OMIM:613493
HP:0030386	Abnormal proportion of class-switched memory B cells	3937	LCP2	OMIM:619374
HP:0030386	Abnormal proportion of class-switched memory B cells	8651	SOCS1	OMIM:619375
HP:0030386	Abnormal proportion of class-switched memory B cells	10525	HYOU1	OMIM:233600
HP:0030386	Abnormal proportion of class-switched memory B cells	96459	FNIP1	OMIM:619705
HP:0030386	Abnormal proportion of class-switched memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030386	Abnormal proportion of class-switched memory B cells	5580	PRKCD	OMIM:615559
HP:0030386	Abnormal proportion of class-switched memory B cells	5336	PLCG2	OMIM:614878
HP:0030386	Abnormal proportion of class-switched memory B cells	5293	PIK3CD	OMIM:615513
HP:0030386	Abnormal proportion of class-switched memory B cells	3570	IL6R	OMIM:618944
HP:0030386	Abnormal proportion of class-switched memory B cells	987	LRBA	OMIM:614700
HP:0030386	Abnormal proportion of class-switched memory B cells	59067	IL21	OMIM:615767
HP:0030386	Abnormal proportion of class-switched memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030386	Abnormal proportion of class-switched memory B cells	29851	ICOS	OMIM:607594
HP:0030388	Decreased proportion of class-switched memory B cells	5966	REL	OMIM:619652
HP:0030388	Decreased proportion of class-switched memory B cells	54790	TET2	OMIM:619126
HP:0030388	Decreased proportion of class-switched memory B cells	930	CD19	OMIM:613493
HP:0030388	Decreased proportion of class-switched memory B cells	3937	LCP2	OMIM:619374
HP:0030388	Decreased proportion of class-switched memory B cells	8651	SOCS1	OMIM:619375
HP:0030388	Decreased proportion of class-switched memory B cells	10525	HYOU1	OMIM:233600
HP:0030388	Decreased proportion of class-switched memory B cells	96459	FNIP1	OMIM:619705
HP:0030388	Decreased proportion of class-switched memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030388	Decreased proportion of class-switched memory B cells	5580	PRKCD	OMIM:615559
HP:0030388	Decreased proportion of class-switched memory B cells	5336	PLCG2	OMIM:614878
HP:0030388	Decreased proportion of class-switched memory B cells	5293	PIK3CD	OMIM:615513
HP:0030388	Decreased proportion of class-switched memory B cells	3570	IL6R	OMIM:618944
HP:0030388	Decreased proportion of class-switched memory B cells	987	LRBA	OMIM:614700
HP:0030388	Decreased proportion of class-switched memory B cells	59067	IL21	OMIM:615767
HP:0030388	Decreased proportion of class-switched memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030388	Decreased proportion of class-switched memory B cells	29851	ICOS	OMIM:607594
HP:0030389	Abnormal circulating thromboxane concentration	5321	PLA2G4A	OMIM:618372
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	54440	SASH3	OMIM:301082
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	5294	PIK3CG	OMIM:619802
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6929	TCF3	OMIM:619824
HP:0020179	Abnormal circulating haptoglobin concentration	10661	KLF1	OMIM:613673
HP:0020179	Abnormal circulating haptoglobin concentration	5313	PKLR	OMIM:266200
HP:0020179	Abnormal circulating haptoglobin concentration	226	ALDOA	OMIM:611881
HP:0020179	Abnormal circulating haptoglobin concentration	6513	SLC2A1	OMIM:612126
HP:0020179	Abnormal circulating haptoglobin concentration	7504	XK	OMIM:300842
HP:0020179	Abnormal circulating haptoglobin concentration	7390	UROS	ORPHA:79277
HP:0020179	Abnormal circulating haptoglobin concentration	2623	GATA1	ORPHA:79277
HP:0020179	Abnormal circulating haptoglobin concentration	9493	KIF23	OMIM:105600
HP:0020179	Abnormal circulating haptoglobin concentration	6005	RHAG	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	6006	RHCE	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	6007	RHD	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	2694	CBLIF	OMIM:261000
HP:0020179	Abnormal circulating haptoglobin concentration	64241	ABCG8	OMIM:210250
HP:0020179	Abnormal circulating haptoglobin concentration	5277	PIGA	ORPHA:447
HP:0030391	Spoken word recognition deficit	4137	MAPT	ORPHA:240112
HP:0030391	Spoken word recognition deficit	4137	MAPT	ORPHA:100070
HP:0030391	Spoken word recognition deficit	2903	GRIN2A	ORPHA:98818
HP:0030391	Spoken word recognition deficit	25978	CHMP2B	ORPHA:100070
HP:0030391	Spoken word recognition deficit	5663	PSEN1	ORPHA:100070
HP:0030391	Spoken word recognition deficit	2896	GRN	ORPHA:100070
HP:0030391	Spoken word recognition deficit	54664	TMEM106B	ORPHA:100070
HP:0030391	Spoken word recognition deficit	54209	TREM2	ORPHA:100070
HP:0030391	Spoken word recognition deficit	7415	VCP	ORPHA:100070
HP:0030391	Spoken word recognition deficit	3028	HSD17B10	ORPHA:391428
HP:0030392	Choroid plexus carcinoma	7157	TP53	OMIM:202300
HP:0030392	Choroid plexus carcinoma	7157	TP53	ORPHA:524
HP:0030392	Choroid plexus carcinoma	6598	SMARCB1	OMIM:609322
HP:0030392	Choroid plexus carcinoma	1029	CDKN2A	ORPHA:524
HP:0030392	Choroid plexus carcinoma	4193	MDM2	ORPHA:524
HP:0030392	Choroid plexus carcinoma	11200	CHEK2	ORPHA:524
HP:0030393	Endolymphatic sac tumor	7428	VHL	ORPHA:892
HP:0030393	Endolymphatic sac tumor	595	CCND1	ORPHA:892
HP:0030390	Reduced circulating leukotriene C4 concentration	4056	LTC4S	OMIM:614037
HP:0020181	Reduced haptoglobin level	10661	KLF1	OMIM:613673
HP:0020181	Reduced haptoglobin level	5313	PKLR	OMIM:266200
HP:0020181	Reduced haptoglobin level	226	ALDOA	OMIM:611881
HP:0020181	Reduced haptoglobin level	6513	SLC2A1	OMIM:612126
HP:0020181	Reduced haptoglobin level	7504	XK	OMIM:300842
HP:0020181	Reduced haptoglobin level	7390	UROS	ORPHA:79277
HP:0020181	Reduced haptoglobin level	2623	GATA1	ORPHA:79277
HP:0020181	Reduced haptoglobin level	9493	KIF23	OMIM:105600
HP:0020181	Reduced haptoglobin level	6005	RHAG	ORPHA:71275
HP:0020181	Reduced haptoglobin level	6006	RHCE	ORPHA:71275
HP:0020181	Reduced haptoglobin level	6007	RHD	ORPHA:71275
HP:0020181	Reduced haptoglobin level	2694	CBLIF	OMIM:261000
HP:0020181	Reduced haptoglobin level	64241	ABCG8	OMIM:210250
HP:0020181	Reduced haptoglobin level	5277	PIGA	ORPHA:447
HP:0020185	Superior cerebellar dysplasia	80210	ARMC9	OMIM:617622
HP:0020186	Multilobulated spleen	64220	STRA6	OMIM:601186
HP:0020187	Thick pachygyria	9289	ADGRG1	ORPHA:98889
HP:0020187	Thick pachygyria	5297	PI4KA	ORPHA:98889
HP:0020187	Thick pachygyria	27286	SRPX2	ORPHA:98889
HP:0020187	Thick pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020189	Posterior predominant thick cortex pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020190	Perisylvian predominant thick cortex pachygyria	9289	ADGRG1	ORPHA:98889
HP:0020190	Perisylvian predominant thick cortex pachygyria	5297	PI4KA	ORPHA:98889
HP:0020190	Perisylvian predominant thick cortex pachygyria	27286	SRPX2	ORPHA:98889
HP:0020191	Anterior predominant thick cortex pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	1585	CYP11B2	OMIM:610600
HP:0000431	Wide nasal bridge	11253	MAN1B1	ORPHA:397941
HP:0000431	Wide nasal bridge	11253	MAN1B1	OMIM:614202
HP:0000431	Wide nasal bridge	8367	H4C5	OMIM:619950
HP:0000431	Wide nasal bridge	2697	GJA1	ORPHA:1522
HP:0000431	Wide nasal bridge	2697	GJA1	OMIM:218400
HP:0000431	Wide nasal bridge	56172	ANKH	ORPHA:1522
HP:0000431	Wide nasal bridge	8425	LTBP4	OMIM:613177
HP:0000431	Wide nasal bridge	1947	EFNB1	ORPHA:1520
HP:0000431	Wide nasal bridge	1947	EFNB1	OMIM:304110
HP:0000431	Wide nasal bridge	3703	STT3A	OMIM:619714
HP:0000431	Wide nasal bridge	64220	STRA6	OMIM:601186
HP:0000431	Wide nasal bridge	55209	SETD5	ORPHA:404440
HP:0000431	Wide nasal bridge	55209	SETD5	OMIM:615761
HP:0000431	Wide nasal bridge	3190	HNRNPK	ORPHA:453504
HP:0000431	Wide nasal bridge	3190	HNRNPK	ORPHA:352665
HP:0000431	Wide nasal bridge	2737	GLI3	ORPHA:380
HP:0000431	Wide nasal bridge	2737	GLI3	OMIM:175700
HP:0000431	Wide nasal bridge	80816	ASXL3	OMIM:615485
HP:0000431	Wide nasal bridge	2317	FLNB	OMIM:112310
HP:0000431	Wide nasal bridge	5830	PEX5	OMIM:202370
HP:0000431	Wide nasal bridge	5830	PEX5	ORPHA:44
HP:0000431	Wide nasal bridge	5830	PEX5	ORPHA:912
HP:0000431	Wide nasal bridge	51111	KMT5B	OMIM:617788
HP:0000431	Wide nasal bridge	79639	TMEM53	OMIM:619727
HP:0000431	Wide nasal bridge	65082	VPS33A	OMIM:617303
HP:0000431	Wide nasal bridge	318	NUDT2	OMIM:619844
HP:0000431	Wide nasal bridge	10084	PQBP1	ORPHA:93946
HP:0000431	Wide nasal bridge	10084	PQBP1	OMIM:309500
HP:0000431	Wide nasal bridge	129563	DIS3L2	ORPHA:2849
HP:0000431	Wide nasal bridge	129563	DIS3L2	OMIM:267000
HP:0000431	Wide nasal bridge	23384	SPECC1L	ORPHA:1519
HP:0000431	Wide nasal bridge	23384	SPECC1L	OMIM:145420
HP:0000431	Wide nasal bridge	3764	KCNJ8	ORPHA:1517
HP:0000431	Wide nasal bridge	10060	ABCC9	ORPHA:1517
HP:0000431	Wide nasal bridge	10060	ABCC9	OMIM:239850
HP:0000431	Wide nasal bridge	57231	SNX14	ORPHA:397709
HP:0000431	Wide nasal bridge	50964	SOST	ORPHA:1513
HP:0000431	Wide nasal bridge	50964	SOST	OMIM:122860
HP:0000431	Wide nasal bridge	50964	SOST	OMIM:269500
HP:0000431	Wide nasal bridge	55650	PIGV	OMIM:239300
HP:0000431	Wide nasal bridge	55650	PIGV	ORPHA:247262
HP:0000431	Wide nasal bridge	6023	RMRP	ORPHA:175
HP:0000431	Wide nasal bridge	83696	TRAPPC9	OMIM:613192
HP:0000431	Wide nasal bridge	83696	TRAPPC9	ORPHA:352530
HP:0000431	Wide nasal bridge	284058	KANSL1	ORPHA:363958
HP:0000431	Wide nasal bridge	284058	KANSL1	ORPHA:363965
HP:0000431	Wide nasal bridge	54453	RIN2	OMIM:613075
HP:0000431	Wide nasal bridge	3423	IDS	ORPHA:217085
HP:0000431	Wide nasal bridge	3423	IDS	ORPHA:217093
HP:0000431	Wide nasal bridge	64359	NXN	OMIM:618529
HP:0000431	Wide nasal bridge	64359	NXN	ORPHA:1507
HP:0000431	Wide nasal bridge	51319	RSRC1	OMIM:618402
HP:0000431	Wide nasal bridge	4920	ROR2	ORPHA:1507
HP:0000431	Wide nasal bridge	4920	ROR2	OMIM:268310
HP:0000431	Wide nasal bridge	3339	HSPG2	ORPHA:1865
HP:0000431	Wide nasal bridge	3339	HSPG2	ORPHA:1606
HP:0000431	Wide nasal bridge	3339	HSPG2	OMIM:224410
HP:0000431	Wide nasal bridge	2626	GATA4	ORPHA:251071
HP:0000431	Wide nasal bridge	171023	ASXL1	ORPHA:97297
HP:0000431	Wide nasal bridge	171023	ASXL1	OMIM:605039
HP:0000431	Wide nasal bridge	10484	SEC23A	OMIM:607812
HP:0000431	Wide nasal bridge	8726	EED	OMIM:617561
HP:0000431	Wide nasal bridge	10815	CPLX1	ORPHA:280
HP:0000431	Wide nasal bridge	10815	CPLX1	OMIM:194190
HP:0000431	Wide nasal bridge	54872	PIGG	ORPHA:280
HP:0000431	Wide nasal bridge	7469	NELFA	ORPHA:280
HP:0000431	Wide nasal bridge	1487	CTBP1	ORPHA:280
HP:0000431	Wide nasal bridge	1487	CTBP1	OMIM:194190
HP:0000431	Wide nasal bridge	3954	LETM1	ORPHA:280
HP:0000431	Wide nasal bridge	3954	LETM1	OMIM:194190
HP:0000431	Wide nasal bridge	7468	NSD2	ORPHA:280
HP:0000431	Wide nasal bridge	7468	NSD2	OMIM:619695
HP:0000431	Wide nasal bridge	7468	NSD2	OMIM:194190
HP:0000431	Wide nasal bridge	5159	PDGFRB	OMIM:616592
HP:0000431	Wide nasal bridge	54968	TMEM70	OMIM:614052
HP:0000431	Wide nasal bridge	1501	CTNND2	ORPHA:281
HP:0000431	Wide nasal bridge	9037	SEMA5A	ORPHA:281
HP:0000431	Wide nasal bridge	4297	KMT2A	ORPHA:319182
HP:0000431	Wide nasal bridge	4297	KMT2A	OMIM:605130
HP:0000431	Wide nasal bridge	57178	ZMIZ1	OMIM:618659
HP:0000431	Wide nasal bridge	5813	PURA	ORPHA:438216
HP:0000431	Wide nasal bridge	5813	PURA	OMIM:616158
HP:0000431	Wide nasal bridge	93627	TBCK	ORPHA:488632
HP:0000431	Wide nasal bridge	3782	KCNN3	OMIM:618658
HP:0000431	Wide nasal bridge	8642	DCHS1	OMIM:601390
HP:0000431	Wide nasal bridge	8642	DCHS1	ORPHA:314679
HP:0000431	Wide nasal bridge	2316	FLNA	ORPHA:90650
HP:0000431	Wide nasal bridge	2316	FLNA	ORPHA:1826
HP:0000431	Wide nasal bridge	2316	FLNA	OMIM:311300
HP:0000431	Wide nasal bridge	2316	FLNA	OMIM:305620
HP:0000431	Wide nasal bridge	8241	RBM10	OMIM:311900
HP:0000431	Wide nasal bridge	8241	RBM10	ORPHA:2886
HP:0000431	Wide nasal bridge	54345	SOX18	OMIM:137940
HP:0000431	Wide nasal bridge	57167	SALL4	ORPHA:233
HP:0000431	Wide nasal bridge	9935	MAFB	ORPHA:233
HP:0000431	Wide nasal bridge	9935	MAFB	ORPHA:2774
HP:0000431	Wide nasal bridge	1123	CHN1	ORPHA:233
HP:0000431	Wide nasal bridge	11285	B4GALT7	OMIM:130070
HP:0000431	Wide nasal bridge	11285	B4GALT7	ORPHA:75496
HP:0000431	Wide nasal bridge	56006	SMG9	OMIM:619995
HP:0000431	Wide nasal bridge	56006	SMG9	OMIM:616920
HP:0000431	Wide nasal bridge	55621	TRMT1	OMIM:618302
HP:0000431	Wide nasal bridge	85301	COL27A1	OMIM:615155
HP:0000431	Wide nasal bridge	10717	AP4B1	OMIM:614066
HP:0000431	Wide nasal bridge	11154	AP4S1	OMIM:614067
HP:0000431	Wide nasal bridge	7862	BRPF1	OMIM:617333
HP:0000431	Wide nasal bridge	57680	CHD8	OMIM:615032
HP:0000431	Wide nasal bridge	8558	CDK10	OMIM:617694
HP:0000431	Wide nasal bridge	51633	OTUD6B	OMIM:617452
HP:0000431	Wide nasal bridge	1909	EDNRA	OMIM:616367
HP:0000431	Wide nasal bridge	5593	PRKG2	OMIM:619636
HP:0000431	Wide nasal bridge	150468	CKAP2L	OMIM:272440
HP:0000431	Wide nasal bridge	150468	CKAP2L	ORPHA:3255
HP:0000431	Wide nasal bridge	5590	PRKCZ	ORPHA:1606
HP:0000431	Wide nasal bridge	2563	GABRD	ORPHA:1606
HP:0000431	Wide nasal bridge	23013	SPEN	ORPHA:1606
HP:0000431	Wide nasal bridge	23013	SPEN	OMIM:619312
HP:0000431	Wide nasal bridge	8510	MMP23B	ORPHA:1606
HP:0000431	Wide nasal bridge	7798	LUZP1	ORPHA:1606
HP:0000431	Wide nasal bridge	6497	SKI	ORPHA:1606
HP:0000431	Wide nasal bridge	10630	PDPN	ORPHA:1606
HP:0000431	Wide nasal bridge	10277	UBE4B	ORPHA:1606
HP:0000431	Wide nasal bridge	8514	KCNAB2	ORPHA:1606
HP:0000431	Wide nasal bridge	473	RERE	ORPHA:1606
HP:0000431	Wide nasal bridge	63976	PRDM16	ORPHA:1606
HP:0000431	Wide nasal bridge	54897	CASZ1	ORPHA:1606
HP:0000431	Wide nasal bridge	85365	ALG2	ORPHA:79326
HP:0000431	Wide nasal bridge	85365	ALG2	OMIM:607906
HP:0000431	Wide nasal bridge	5727	PTCH1	OMIM:610828
HP:0000431	Wide nasal bridge	5727	PTCH1	ORPHA:377
HP:0000431	Wide nasal bridge	5727	PTCH1	OMIM:109400
HP:0000431	Wide nasal bridge	26137	ZBTB20	OMIM:259050
HP:0000431	Wide nasal bridge	54828	BCAS3	OMIM:619641
HP:0000431	Wide nasal bridge	4286	MITF	OMIM:193510
HP:0000431	Wide nasal bridge	4286	MITF	ORPHA:897
HP:0000431	Wide nasal bridge	7750	ZMYM2	OMIM:619522
HP:0000431	Wide nasal bridge	54928	BPNT2	OMIM:614078
HP:0000431	Wide nasal bridge	51098	IFT52	OMIM:617102
HP:0000431	Wide nasal bridge	9928	KIF14	OMIM:616258
HP:0000431	Wide nasal bridge	9772	TMEM94	OMIM:618316
HP:0000431	Wide nasal bridge	25973	PARS2	OMIM:618437
HP:0000431	Wide nasal bridge	79971	WLS	OMIM:619648
HP:0000431	Wide nasal bridge	79633	FAT4	ORPHA:314679
HP:0000431	Wide nasal bridge	79633	FAT4	ORPHA:2136
HP:0000431	Wide nasal bridge	79633	FAT4	OMIM:615546
HP:0000431	Wide nasal bridge	57492	ARID1B	ORPHA:251056
HP:0000431	Wide nasal bridge	6925	TCF4	OMIM:610954
HP:0000431	Wide nasal bridge	2683	B4GALT1	ORPHA:79332
HP:0000431	Wide nasal bridge	57688	ZSWIM6	OMIM:603671
HP:0000431	Wide nasal bridge	8643	PTCH2	ORPHA:377
HP:0000431	Wide nasal bridge	51684	SUFU	ORPHA:377
HP:0000431	Wide nasal bridge	2239	GPC4	ORPHA:373
HP:0000431	Wide nasal bridge	2239	GPC4	OMIM:312870
HP:0000431	Wide nasal bridge	2719	GPC3	ORPHA:373
HP:0000431	Wide nasal bridge	2719	GPC3	OMIM:312870
HP:0000431	Wide nasal bridge	55120	FANCL	OMIM:614083
HP:0000431	Wide nasal bridge	5077	PAX3	OMIM:193500
HP:0000431	Wide nasal bridge	5077	PAX3	OMIM:148820
HP:0000431	Wide nasal bridge	5077	PAX3	ORPHA:894
HP:0000431	Wide nasal bridge	284098	PIGW	OMIM:616025
HP:0000431	Wide nasal bridge	284098	PIGW	ORPHA:247262
HP:0000431	Wide nasal bridge	259232	NALCN	OMIM:616266
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:2053
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:1147
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:371364
HP:0000431	Wide nasal bridge	5286	PIK3C2A	OMIM:618440
HP:0000431	Wide nasal bridge	5286	PIK3C2A	ORPHA:557003
HP:0000431	Wide nasal bridge	8565	YARS1	OMIM:619418
HP:0000431	Wide nasal bridge	1107	CHD3	OMIM:618205
HP:0000431	Wide nasal bridge	374969	SVBP	OMIM:618569
HP:0000431	Wide nasal bridge	6261	RYR1	ORPHA:324581
HP:0000431	Wide nasal bridge	7476	WNT7A	OMIM:276820
HP:0000431	Wide nasal bridge	6885	MAP3K7	ORPHA:1826
HP:0000431	Wide nasal bridge	6885	MAP3K7	OMIM:617137
HP:0000431	Wide nasal bridge	6885	MAP3K7	OMIM:157800
HP:0000431	Wide nasal bridge	51322	WAC	ORPHA:466950
HP:0000431	Wide nasal bridge	6513	SLC2A1	ORPHA:1942
HP:0000431	Wide nasal bridge	8831	SYNGAP1	ORPHA:1942
HP:0000431	Wide nasal bridge	1173	AP2M1	ORPHA:1942
HP:0000431	Wide nasal bridge	6323	SCN1A	ORPHA:1942
HP:0000431	Wide nasal bridge	340533	NEXMIF	ORPHA:1942
HP:0000431	Wide nasal bridge	1106	CHD2	ORPHA:1942
HP:0000431	Wide nasal bridge	6529	SLC6A1	ORPHA:1942
HP:0000431	Wide nasal bridge	10195	ALG3	OMIM:601110
HP:0000431	Wide nasal bridge	257	ALX3	OMIM:136760
HP:0000431	Wide nasal bridge	6135	RPL11	ORPHA:124
HP:0000431	Wide nasal bridge	6138	RPL15	ORPHA:124
HP:0000431	Wide nasal bridge	6229	RPS24	ORPHA:124
HP:0000431	Wide nasal bridge	6125	RPL5	ORPHA:124
HP:0000431	Wide nasal bridge	6204	RPS10	ORPHA:124
HP:0000431	Wide nasal bridge	6224	RPS20	ORPHA:124
HP:0000431	Wide nasal bridge	6165	RPL35A	ORPHA:124
HP:0000431	Wide nasal bridge	2623	GATA1	ORPHA:124
HP:0000431	Wide nasal bridge	6223	RPS19	ORPHA:124
HP:0000431	Wide nasal bridge	6232	RPS27	ORPHA:124
HP:0000431	Wide nasal bridge	6231	RPS26	ORPHA:124
HP:0000431	Wide nasal bridge	11224	RPL35	ORPHA:124
HP:0000431	Wide nasal bridge	6160	RPL31	ORPHA:124
HP:0000431	Wide nasal bridge	6218	RPS17	ORPHA:124
HP:0000431	Wide nasal bridge	6201	RPS7	ORPHA:124
HP:0000431	Wide nasal bridge	6201	RPS7	OMIM:612563
HP:0000431	Wide nasal bridge	6155	RPL27	ORPHA:124
HP:0000431	Wide nasal bridge	6154	RPL26	ORPHA:124
HP:0000431	Wide nasal bridge	6210	RPS15A	ORPHA:124
HP:0000431	Wide nasal bridge	90121	TSR2	ORPHA:124
HP:0000431	Wide nasal bridge	6141	RPL18	ORPHA:124
HP:0000431	Wide nasal bridge	6235	RPS29	ORPHA:124
HP:0000431	Wide nasal bridge	6234	RPS28	ORPHA:124
HP:0000431	Wide nasal bridge	51816	ADA2	ORPHA:124
HP:0000431	Wide nasal bridge	6473	SHOX	ORPHA:240
HP:0000431	Wide nasal bridge	117581	TWIST2	ORPHA:1807
HP:0000431	Wide nasal bridge	117581	TWIST2	ORPHA:1231
HP:0000431	Wide nasal bridge	3845	KRAS	OMIM:600268
HP:0000431	Wide nasal bridge	54903	MKS1	OMIM:617121
HP:0000431	Wide nasal bridge	8295	TRRAP	OMIM:618454
HP:0000431	Wide nasal bridge	9742	IFT140	OMIM:266920
HP:0000431	Wide nasal bridge	9742	IFT140	ORPHA:791
HP:0000431	Wide nasal bridge	8621	CDK13	OMIM:617360
HP:0000431	Wide nasal bridge	5881	RAC3	OMIM:618577
HP:0000431	Wide nasal bridge	26173	INTS1	OMIM:618571
HP:0000431	Wide nasal bridge	9851	KIAA0753	OMIM:617127
HP:0000431	Wide nasal bridge	9851	KIAA0753	OMIM:619479
HP:0000431	Wide nasal bridge	55770	EXOC2	OMIM:619306
HP:0000431	Wide nasal bridge	3480	IGF1R	ORPHA:73273
HP:0000431	Wide nasal bridge	3480	IGF1R	OMIM:270450
HP:0000431	Wide nasal bridge	22827	PUF60	ORPHA:508498
HP:0000431	Wide nasal bridge	22827	PUF60	ORPHA:508488
HP:0000431	Wide nasal bridge	22827	PUF60	OMIM:615583
HP:0000431	Wide nasal bridge	9488	PIGB	OMIM:618580
HP:0000431	Wide nasal bridge	51574	LARP7	OMIM:615071
HP:0000431	Wide nasal bridge	92840	REEP6	ORPHA:791
HP:0000431	Wide nasal bridge	6094	ROM1	ORPHA:791
HP:0000431	Wide nasal bridge	6017	RLBP1	ORPHA:791
HP:0000431	Wide nasal bridge	7401	CLRN1	ORPHA:791
HP:0000431	Wide nasal bridge	24	ABCA4	ORPHA:791
HP:0000431	Wide nasal bridge	130557	ZNF513	ORPHA:791
HP:0000431	Wide nasal bridge	582	BBS1	ORPHA:791
HP:0000431	Wide nasal bridge	92211	CDHR1	ORPHA:791
HP:0000431	Wide nasal bridge	23568	ARL2BP	ORPHA:791
HP:0000431	Wide nasal bridge	6121	RPE65	ORPHA:791
HP:0000431	Wide nasal bridge	54806	AHI1	ORPHA:791
HP:0000431	Wide nasal bridge	54806	AHI1	OMIM:608629
HP:0000431	Wide nasal bridge	6101	RP1	ORPHA:791
HP:0000431	Wide nasal bridge	3419	IDH3A	ORPHA:791
HP:0000431	Wide nasal bridge	4751	NEK2	ORPHA:791
HP:0000431	Wide nasal bridge	346007	EYS	ORPHA:791
HP:0000431	Wide nasal bridge	8100	IFT88	ORPHA:791
HP:0000431	Wide nasal bridge	23020	SNRNP200	ORPHA:791
HP:0000431	Wide nasal bridge	762	CA4	ORPHA:791
HP:0000431	Wide nasal bridge	138050	HGSNAT	ORPHA:791
HP:0000431	Wide nasal bridge	196	AHR	ORPHA:791
HP:0000431	Wide nasal bridge	3614	IMPDH1	ORPHA:791
HP:0000431	Wide nasal bridge	123016	TTC8	ORPHA:791
HP:0000431	Wide nasal bridge	6103	RPGR	ORPHA:791
HP:0000431	Wide nasal bridge	1406	CRX	ORPHA:791
HP:0000431	Wide nasal bridge	5148	PDE6G	ORPHA:791
HP:0000431	Wide nasal bridge	26160	IFT172	ORPHA:791
HP:0000431	Wide nasal bridge	26121	PRPF31	ORPHA:791
HP:0000431	Wide nasal bridge	583	BBS2	ORPHA:791
HP:0000431	Wide nasal bridge	4117	MAK	ORPHA:791
HP:0000431	Wide nasal bridge	25794	FSCN2	ORPHA:791
HP:0000431	Wide nasal bridge	375298	CERKL	ORPHA:791
HP:0000431	Wide nasal bridge	3420	IDH3B	ORPHA:791
HP:0000431	Wide nasal bridge	57670	KIAA1549	ORPHA:791
HP:0000431	Wide nasal bridge	7275	TUB	ORPHA:791
HP:0000431	Wide nasal bridge	24148	PRPF6	ORPHA:791
HP:0000431	Wide nasal bridge	23418	CRB1	ORPHA:791
HP:0000431	Wide nasal bridge	10461	MERTK	ORPHA:791
HP:0000431	Wide nasal bridge	57709	SLC7A14	ORPHA:791
HP:0000431	Wide nasal bridge	768206	PRCD	ORPHA:791
HP:0000431	Wide nasal bridge	7399	USH2A	ORPHA:791
HP:0000431	Wide nasal bridge	23370	ARHGEF18	ORPHA:791
HP:0000431	Wide nasal bridge	5949	RBP3	ORPHA:791
HP:0000431	Wide nasal bridge	6010	RHO	ORPHA:791
HP:0000431	Wide nasal bridge	6100	RP9	ORPHA:791
HP:0000431	Wide nasal bridge	10002	NR2E3	ORPHA:791
HP:0000431	Wide nasal bridge	9227	LRAT	ORPHA:791
HP:0000431	Wide nasal bridge	84140	FAM161A	ORPHA:791
HP:0000431	Wide nasal bridge	55812	SPATA7	ORPHA:791
HP:0000431	Wide nasal bridge	55624	POMGNT1	ORPHA:791
HP:0000431	Wide nasal bridge	79797	ZNF408	ORPHA:791
HP:0000431	Wide nasal bridge	403	ARL3	ORPHA:791
HP:0000431	Wide nasal bridge	5145	PDE6A	ORPHA:791
HP:0000431	Wide nasal bridge	10210	TOPORS	ORPHA:791
HP:0000431	Wide nasal bridge	8842	PROM1	ORPHA:791
HP:0000431	Wide nasal bridge	9128	PRPF4	ORPHA:791
HP:0000431	Wide nasal bridge	145226	RDH12	ORPHA:791
HP:0000431	Wide nasal bridge	50939	IMPG2	ORPHA:791
HP:0000431	Wide nasal bridge	8481	OFD1	ORPHA:791
HP:0000431	Wide nasal bridge	8481	OFD1	OMIM:300804
HP:0000431	Wide nasal bridge	8481	OFD1	OMIM:311200
HP:0000431	Wide nasal bridge	8481	OFD1	ORPHA:2750
HP:0000431	Wide nasal bridge	49855	SCAPER	ORPHA:791
HP:0000431	Wide nasal bridge	2979	GUCA1B	ORPHA:791
HP:0000431	Wide nasal bridge	1259	CNGA1	ORPHA:791
HP:0000431	Wide nasal bridge	1258	CNGB1	ORPHA:791
HP:0000431	Wide nasal bridge	60509	AGBL5	ORPHA:791
HP:0000431	Wide nasal bridge	5961	PRPH2	ORPHA:791
HP:0000431	Wide nasal bridge	388939	PCARE	ORPHA:791
HP:0000431	Wide nasal bridge	7439	BEST1	ORPHA:791
HP:0000431	Wide nasal bridge	9785	DHX38	ORPHA:791
HP:0000431	Wide nasal bridge	7287	TULP1	ORPHA:791
HP:0000431	Wide nasal bridge	5995	RGR	ORPHA:791
HP:0000431	Wide nasal bridge	9129	PRPF3	ORPHA:791
HP:0000431	Wide nasal bridge	55975	KLHL7	ORPHA:791
HP:0000431	Wide nasal bridge	3617	IMPG1	ORPHA:791
HP:0000431	Wide nasal bridge	94137	RP1L1	ORPHA:791
HP:0000431	Wide nasal bridge	5158	PDE6B	ORPHA:791
HP:0000431	Wide nasal bridge	6102	RP2	ORPHA:791
HP:0000431	Wide nasal bridge	55857	KIZ	ORPHA:791
HP:0000431	Wide nasal bridge	64218	SEMA4A	ORPHA:791
HP:0000431	Wide nasal bridge	4901	NRL	ORPHA:791
HP:0000431	Wide nasal bridge	157657	CFAP418	ORPHA:791
HP:0000431	Wide nasal bridge	10594	PRPF8	ORPHA:791
HP:0000431	Wide nasal bridge	84100	ARL6	ORPHA:791
HP:0000431	Wide nasal bridge	6295	SAG	ORPHA:791
HP:0000431	Wide nasal bridge	79947	DHDDS	ORPHA:791
HP:0000431	Wide nasal bridge	57459	GATAD2B	OMIM:615074
HP:0000431	Wide nasal bridge	6134	RPL10	OMIM:300998
HP:0000431	Wide nasal bridge	5898	RALA	OMIM:619311
HP:0000431	Wide nasal bridge	10466	COG5	ORPHA:263487
HP:0000431	Wide nasal bridge	30000	TNPO2	OMIM:619556
HP:0000431	Wide nasal bridge	56896	DPYSL5	OMIM:619435
HP:0000431	Wide nasal bridge	54517	PUS7	OMIM:618342
HP:0000431	Wide nasal bridge	8573	CASK	OMIM:300749
HP:0000431	Wide nasal bridge	8573	CASK	ORPHA:163937
HP:0000431	Wide nasal bridge	8573	CASK	OMIM:300422
HP:0000431	Wide nasal bridge	6418	SET	OMIM:618106
HP:0000431	Wide nasal bridge	2200	FBN1	ORPHA:284979
HP:0000431	Wide nasal bridge	5308	PITX2	ORPHA:782
HP:0000431	Wide nasal bridge	5308	PITX2	OMIM:180500
HP:0000431	Wide nasal bridge	2296	FOXC1	ORPHA:782
HP:0000431	Wide nasal bridge	7372	UMPS	ORPHA:30
HP:0000431	Wide nasal bridge	2972	BRF1	ORPHA:444072
HP:0000431	Wide nasal bridge	650	BMP2	ORPHA:261295
HP:0000431	Wide nasal bridge	23114	NFASC	OMIM:618356
HP:0000431	Wide nasal bridge	6651	SON	OMIM:617140
HP:0000431	Wide nasal bridge	6651	SON	ORPHA:500150
HP:0000431	Wide nasal bridge	5649	RELN	ORPHA:89844
HP:0000431	Wide nasal bridge	10300	KATNB1	ORPHA:89844
HP:0000431	Wide nasal bridge	54820	NDE1	ORPHA:89844
HP:0000431	Wide nasal bridge	54820	NDE1	OMIM:614019
HP:0000431	Wide nasal bridge	10978	CLP1	ORPHA:411493
HP:0000431	Wide nasal bridge	10978	CLP1	OMIM:615803
HP:0000431	Wide nasal bridge	63895	PIEZO2	OMIM:617146
HP:0000431	Wide nasal bridge	23030	KDM4B	OMIM:619320
HP:0000431	Wide nasal bridge	26128	KIFBP	ORPHA:66629
HP:0000431	Wide nasal bridge	26128	KIFBP	OMIM:609460
HP:0000431	Wide nasal bridge	1908	EDN3	ORPHA:897
HP:0000431	Wide nasal bridge	1910	EDNRB	ORPHA:897
HP:0000431	Wide nasal bridge	6663	SOX10	ORPHA:897
HP:0000431	Wide nasal bridge	6663	SOX10	ORPHA:163746
HP:0000431	Wide nasal bridge	8626	TP63	OMIM:106260
HP:0000431	Wide nasal bridge	8626	TP63	ORPHA:978
HP:0000431	Wide nasal bridge	5934	RBL2	OMIM:619690
HP:0000431	Wide nasal bridge	83999	KREMEN1	OMIM:617392
HP:0000431	Wide nasal bridge	3039	HBA1	ORPHA:98791
HP:0000431	Wide nasal bridge	3040	HBA2	ORPHA:98791
HP:0000431	Wide nasal bridge	4621	MYH3	OMIM:193700
HP:0000431	Wide nasal bridge	4621	MYH3	ORPHA:2053
HP:0000431	Wide nasal bridge	4621	MYH3	ORPHA:1147
HP:0000431	Wide nasal bridge	51132	RLIM	OMIM:300978
HP:0000431	Wide nasal bridge	153642	ARSK	OMIM:619698
HP:0000431	Wide nasal bridge	22930	RAB3GAP1	OMIM:600118
HP:0000431	Wide nasal bridge	22930	RAB3GAP1	ORPHA:2510
HP:0000431	Wide nasal bridge	2530	FUT8	OMIM:618005
HP:0000431	Wide nasal bridge	4052	LTBP1	OMIM:619451
HP:0000431	Wide nasal bridge	54496	PRMT7	OMIM:617157
HP:0000431	Wide nasal bridge	3756	KCNH1	OMIM:135500
HP:0000431	Wide nasal bridge	3756	KCNH1	ORPHA:420561
HP:0000431	Wide nasal bridge	8260	NAA10	OMIM:300855
HP:0000431	Wide nasal bridge	10082	GPC6	OMIM:258315
HP:0000431	Wide nasal bridge	2260	FGFR1	OMIM:190440
HP:0000431	Wide nasal bridge	2260	FGFR1	ORPHA:3366
HP:0000431	Wide nasal bridge	9969	MED13	OMIM:618009
HP:0000431	Wide nasal bridge	23389	MED13L	ORPHA:369891
HP:0000431	Wide nasal bridge	1312	COMT	ORPHA:567
HP:0000431	Wide nasal bridge	221037	JMJD1C	ORPHA:567
HP:0000431	Wide nasal bridge	2812	GP1BB	ORPHA:567
HP:0000431	Wide nasal bridge	6239	RREB1	ORPHA:567
HP:0000431	Wide nasal bridge	6899	TBX1	ORPHA:567
HP:0000431	Wide nasal bridge	7290	HIRA	ORPHA:567
HP:0000431	Wide nasal bridge	9632	SEC24C	ORPHA:567
HP:0000431	Wide nasal bridge	7353	UFD1	ORPHA:567
HP:0000431	Wide nasal bridge	421	ARVCF	ORPHA:567
HP:0000431	Wide nasal bridge	7136	TNNI2	OMIM:601680
HP:0000431	Wide nasal bridge	7136	TNNI2	ORPHA:1147
HP:0000431	Wide nasal bridge	1009	CDH11	OMIM:211380
HP:0000431	Wide nasal bridge	1301	COL11A1	ORPHA:560
HP:0000431	Wide nasal bridge	9758	FRMPD4	OMIM:300983
HP:0000431	Wide nasal bridge	10297	APC2	OMIM:617169
HP:0000431	Wide nasal bridge	92949	ADAMTSL1	ORPHA:521445
HP:0000431	Wide nasal bridge	4613	MYCN	OMIM:164280
HP:0000431	Wide nasal bridge	79644	SRD5A3	OMIM:612713
HP:0000431	Wide nasal bridge	668	FOXL2	OMIM:110100
HP:0000431	Wide nasal bridge	668	FOXL2	ORPHA:572333
HP:0000431	Wide nasal bridge	5913	RAPSN	OMIM:618388
HP:0000431	Wide nasal bridge	8812	CCNK	OMIM:618147
HP:0000431	Wide nasal bridge	10847	SRCAP	OMIM:619595
HP:0000431	Wide nasal bridge	51604	PIGT	ORPHA:369837
HP:0000431	Wide nasal bridge	6711	SPTBN1	OMIM:619475
HP:0000431	Wide nasal bridge	1387	CREBBP	OMIM:180849
HP:0000431	Wide nasal bridge	2033	EP300	OMIM:180849
HP:0000431	Wide nasal bridge	79005	SCNM1	OMIM:620107
HP:0000431	Wide nasal bridge	4983	OPHN1	ORPHA:137831
HP:0000431	Wide nasal bridge	285590	SH3PXD2B	ORPHA:137834
HP:0000431	Wide nasal bridge	5781	PTPN11	ORPHA:500
HP:0000431	Wide nasal bridge	673	BRAF	ORPHA:500
HP:0000431	Wide nasal bridge	5894	RAF1	ORPHA:500
HP:0000431	Wide nasal bridge	526	ATP6V1B2	ORPHA:79500
HP:0000431	Wide nasal bridge	57465	TBC1D24	ORPHA:79500
HP:0000431	Wide nasal bridge	57465	TBC1D24	OMIM:220500
HP:0000431	Wide nasal bridge	2131	EXT1	ORPHA:502
HP:0000431	Wide nasal bridge	7227	TRPS1	ORPHA:502
HP:0000431	Wide nasal bridge	11198	SUPT16H	OMIM:619480
HP:0000431	Wide nasal bridge	84172	POLR1B	ORPHA:861
HP:0000431	Wide nasal bridge	9533	POLR1C	ORPHA:861
HP:0000431	Wide nasal bridge	51082	POLR1D	ORPHA:861
HP:0000431	Wide nasal bridge	6949	TCOF1	ORPHA:861
HP:0000431	Wide nasal bridge	4927	NUP88	OMIM:618393
HP:0000431	Wide nasal bridge	1457	CSNK2A1	OMIM:617062
HP:0000431	Wide nasal bridge	7204	TRIO	OMIM:617061
HP:0000431	Wide nasal bridge	2571	GAD1	OMIM:619124
HP:0000431	Wide nasal bridge	5189	PEX1	OMIM:601539
HP:0000431	Wide nasal bridge	5189	PEX1	ORPHA:44
HP:0000431	Wide nasal bridge	5189	PEX1	ORPHA:912
HP:0000431	Wide nasal bridge	8239	USP9X	OMIM:300968
HP:0000431	Wide nasal bridge	8239	USP9X	ORPHA:480880
HP:0000431	Wide nasal bridge	1654	DDX3X	OMIM:300958
HP:0000431	Wide nasal bridge	50485	SMARCAL1	OMIM:242900
HP:0000431	Wide nasal bridge	745	MYRF	OMIM:618280
HP:0000431	Wide nasal bridge	80267	EDEM3	OMIM:619493
HP:0000431	Wide nasal bridge	5295	PIK3R1	ORPHA:3163
HP:0000431	Wide nasal bridge	5295	PIK3R1	OMIM:269880
HP:0000431	Wide nasal bridge	4256	MGP	OMIM:245150
HP:0000431	Wide nasal bridge	9487	PIGL	OMIM:280000
HP:0000431	Wide nasal bridge	9487	PIGL	ORPHA:247262
HP:0000431	Wide nasal bridge	10020	GNE	ORPHA:3166
HP:0000431	Wide nasal bridge	10020	GNE	OMIM:269921
HP:0000431	Wide nasal bridge	7474	WNT5A	OMIM:180700
HP:0000431	Wide nasal bridge	7474	WNT5A	ORPHA:3107
HP:0000431	Wide nasal bridge	1855	DVL1	OMIM:180700
HP:0000431	Wide nasal bridge	1855	DVL1	ORPHA:3107
HP:0000431	Wide nasal bridge	9897	WASHC5	ORPHA:7
HP:0000431	Wide nasal bridge	28952	CCDC22	ORPHA:7
HP:0000431	Wide nasal bridge	129285	PPP1R21	OMIM:619383
HP:0000431	Wide nasal bridge	114034	TOE1	ORPHA:284339
HP:0000431	Wide nasal bridge	114034	TOE1	OMIM:614969
HP:0000431	Wide nasal bridge	9562	MINPP1	ORPHA:284339
HP:0000431	Wide nasal bridge	27161	AGO2	OMIM:619149
HP:0000431	Wide nasal bridge	9652	SKIC3	ORPHA:84064
HP:0000431	Wide nasal bridge	6499	SKIC2	ORPHA:84064
HP:0000431	Wide nasal bridge	6499	SKIC2	OMIM:614602
HP:0000431	Wide nasal bridge	374654	KIF7	ORPHA:166024
HP:0000431	Wide nasal bridge	374654	KIF7	OMIM:200990
HP:0000431	Wide nasal bridge	374654	KIF7	OMIM:607131
HP:0000431	Wide nasal bridge	8085	KMT2D	OMIM:147920
HP:0000431	Wide nasal bridge	8085	KMT2D	OMIM:620186
HP:0000431	Wide nasal bridge	7403	KDM6A	OMIM:147920
HP:0000431	Wide nasal bridge	5573	PRKAR1A	ORPHA:950
HP:0000431	Wide nasal bridge	5144	PDE4D	ORPHA:950
HP:0000431	Wide nasal bridge	10128	LRPPRC	OMIM:220111
HP:0000431	Wide nasal bridge	341640	FREM2	ORPHA:2052
HP:0000431	Wide nasal bridge	80144	FRAS1	ORPHA:2052
HP:0000431	Wide nasal bridge	80144	FRAS1	OMIM:219000
HP:0000431	Wide nasal bridge	23426	GRIP1	ORPHA:2052
HP:0000431	Wide nasal bridge	55503	TRPV6	OMIM:618188
HP:0000431	Wide nasal bridge	23241	PACS2	OMIM:618067
HP:0000431	Wide nasal bridge	23556	PIGN	ORPHA:2059
HP:0000431	Wide nasal bridge	5885	RAD21	OMIM:614701
HP:0000431	Wide nasal bridge	57539	WDR35	OMIM:613610
HP:0000431	Wide nasal bridge	7518	XRCC4	ORPHA:99812
HP:0000431	Wide nasal bridge	3981	LIG4	ORPHA:99812
HP:0000431	Wide nasal bridge	3981	LIG4	OMIM:606593
HP:0000431	Wide nasal bridge	9839	ZEB2	OMIM:235730
HP:0000431	Wide nasal bridge	9839	ZEB2	ORPHA:261552
HP:0000431	Wide nasal bridge	9839	ZEB2	ORPHA:261537
HP:0000431	Wide nasal bridge	4281	MID1	OMIM:300000
HP:0000431	Wide nasal bridge	4281	MID1	ORPHA:2745
HP:0000431	Wide nasal bridge	8443	GNPAT	OMIM:222765
HP:0000431	Wide nasal bridge	22858	CILK1	OMIM:612651
HP:0000431	Wide nasal bridge	2314	FLII	ORPHA:819
HP:0000431	Wide nasal bridge	23096	IQSEC2	ORPHA:819
HP:0000431	Wide nasal bridge	10743	RAI1	ORPHA:819
HP:0000431	Wide nasal bridge	10743	RAI1	OMIM:182290
HP:0000431	Wide nasal bridge	10522	DEAF1	ORPHA:819
HP:0000431	Wide nasal bridge	1717	DHCR7	ORPHA:818
HP:0000431	Wide nasal bridge	1717	DHCR7	OMIM:270400
HP:0000431	Wide nasal bridge	23431	AP4E1	OMIM:613744
HP:0000431	Wide nasal bridge	5818	NECTIN1	ORPHA:3253
HP:0000431	Wide nasal bridge	29072	SETD2	OMIM:620157
HP:0000431	Wide nasal bridge	29072	SETD2	OMIM:620155
HP:0000431	Wide nasal bridge	4758	NEU1	ORPHA:812
HP:0000431	Wide nasal bridge	10225	CD96	OMIM:211750
HP:0000431	Wide nasal bridge	9382	COG1	OMIM:611209
HP:0000431	Wide nasal bridge	9382	COG1	ORPHA:263508
HP:0000431	Wide nasal bridge	6595	SMARCA2	OMIM:619293
HP:0000431	Wide nasal bridge	84992	PIGY	ORPHA:247262
HP:0000431	Wide nasal bridge	84720	PIGO	ORPHA:247262
HP:0000431	Wide nasal bridge	84720	PIGO	OMIM:614749
HP:0000431	Wide nasal bridge	93210	PGAP3	ORPHA:247262
HP:0000431	Wide nasal bridge	93210	PGAP3	OMIM:615716
HP:0000431	Wide nasal bridge	27315	PGAP2	ORPHA:247262
HP:0000431	Wide nasal bridge	27315	PGAP2	OMIM:614207
HP:0000431	Wide nasal bridge	4001	LMNB1	OMIM:619179
HP:0000431	Wide nasal bridge	170302	ARX	OMIM:300215
HP:0000431	Wide nasal bridge	23522	KAT6B	OMIM:606170
HP:0000431	Wide nasal bridge	92579	G6PC3	OMIM:612541
HP:0000431	Wide nasal bridge	1509	CTSD	OMIM:610127
HP:0000431	Wide nasal bridge	158326	FREM1	ORPHA:3366
HP:0000431	Wide nasal bridge	158326	FREM1	OMIM:614485
HP:0000431	Wide nasal bridge	8546	AP3B1	OMIM:608233
HP:0000431	Wide nasal bridge	6597	SMARCA4	OMIM:614609
HP:0000431	Wide nasal bridge	23116	TOGARAM1	OMIM:619185
HP:0000431	Wide nasal bridge	860	RUNX2	OMIM:119600
HP:0000431	Wide nasal bridge	26053	AUTS2	ORPHA:352490
HP:0000431	Wide nasal bridge	26053	AUTS2	OMIM:615834
HP:0000431	Wide nasal bridge	4591	TRIM37	OMIM:253250
HP:0000431	Wide nasal bridge	4591	TRIM37	ORPHA:2576
HP:0000431	Wide nasal bridge	10352	WARS2	ORPHA:572798
HP:0000431	Wide nasal bridge	23545	ATP6V0A2	OMIM:278250
HP:0000431	Wide nasal bridge	1954	MEGF8	OMIM:614976
HP:0000431	Wide nasal bridge	7020	TFAP2A	ORPHA:1297
HP:0000431	Wide nasal bridge	2752	GLUL	OMIM:610015
HP:0000431	Wide nasal bridge	25942	SIN3A	OMIM:613406
HP:0000431	Wide nasal bridge	5193	PEX12	OMIM:614859
HP:0000431	Wide nasal bridge	5193	PEX12	ORPHA:44
HP:0000431	Wide nasal bridge	5193	PEX12	ORPHA:912
HP:0000431	Wide nasal bridge	3425	IDUA	OMIM:607014
HP:0000431	Wide nasal bridge	3425	IDUA	ORPHA:93473
HP:0000431	Wide nasal bridge	175	AGA	ORPHA:93
HP:0000431	Wide nasal bridge	53834	FGFRL1	OMIM:194190
HP:0000431	Wide nasal bridge	4853	NOTCH2	ORPHA:955
HP:0000431	Wide nasal bridge	9653	HS2ST1	OMIM:619194
HP:0000431	Wide nasal bridge	1857	DVL3	ORPHA:3107
HP:0000431	Wide nasal bridge	1857	DVL3	OMIM:616894
HP:0000431	Wide nasal bridge	2535	FZD2	ORPHA:3107
HP:0000431	Wide nasal bridge	2535	FZD2	OMIM:164745
HP:0000431	Wide nasal bridge	9508	ADAMTS3	ORPHA:2136
HP:0000431	Wide nasal bridge	147372	CCBE1	ORPHA:2136
HP:0000431	Wide nasal bridge	147372	CCBE1	OMIM:235510
HP:0000431	Wide nasal bridge	6660	SOX5	OMIM:616803
HP:0000431	Wide nasal bridge	6804	STX1A	ORPHA:904
HP:0000431	Wide nasal bridge	7461	CLIP2	ORPHA:904
HP:0000431	Wide nasal bridge	84277	DNAJC30	ORPHA:904
HP:0000431	Wide nasal bridge	8468	FKBP6	ORPHA:904
HP:0000431	Wide nasal bridge	5982	RFC2	ORPHA:904
HP:0000431	Wide nasal bridge	2969	GTF2I	ORPHA:904
HP:0000431	Wide nasal bridge	3984	LIMK1	ORPHA:904
HP:0000431	Wide nasal bridge	9569	GTF2IRD1	ORPHA:904
HP:0000431	Wide nasal bridge	155382	VPS37D	ORPHA:904
HP:0000431	Wide nasal bridge	155368	METTL27	ORPHA:904
HP:0000431	Wide nasal bridge	114049	BUD23	ORPHA:904
HP:0000431	Wide nasal bridge	7458	EIF4H	ORPHA:904
HP:0000431	Wide nasal bridge	84163	GTF2IRD2	ORPHA:904
HP:0000431	Wide nasal bridge	9275	BCL7B	ORPHA:904
HP:0000431	Wide nasal bridge	26608	TBL2	ORPHA:904
HP:0000431	Wide nasal bridge	653361	NCF1	ORPHA:904
HP:0000431	Wide nasal bridge	135886	TMEM270	ORPHA:904
HP:0000431	Wide nasal bridge	51085	MLXIPL	ORPHA:904
HP:0000431	Wide nasal bridge	9031	BAZ1B	ORPHA:904
HP:0000431	Wide nasal bridge	2006	ELN	ORPHA:904
HP:0000431	Wide nasal bridge	54499	TMCO1	OMIM:213980
HP:0000431	Wide nasal bridge	10236	HNRNPR	OMIM:620073
HP:0000431	Wide nasal bridge	51611	DPH5	OMIM:620070
HP:0000431	Wide nasal bridge	78989	COLEC11	OMIM:265050
HP:0000431	Wide nasal bridge	5594	MAPK1	OMIM:619087
HP:0000431	Wide nasal bridge	5192	PEX10	OMIM:614870
HP:0000431	Wide nasal bridge	5192	PEX10	ORPHA:44
HP:0000431	Wide nasal bridge	5192	PEX10	ORPHA:912
HP:0000431	Wide nasal bridge	92002	CCNQ	ORPHA:140952
HP:0000431	Wide nasal bridge	5591	PRKDC	OMIM:615966
HP:0000431	Wide nasal bridge	388015	RTL1	ORPHA:96334
HP:0000431	Wide nasal bridge	8788	DLK1	ORPHA:96334
HP:0000431	Wide nasal bridge	55384	MEG3	ORPHA:96334
HP:0000431	Wide nasal bridge	55343	SLC35C1	ORPHA:99843
HP:0000431	Wide nasal bridge	9342	SNAP29	OMIM:609528
HP:0000431	Wide nasal bridge	55670	PEX26	ORPHA:44
HP:0000431	Wide nasal bridge	55670	PEX26	ORPHA:912
HP:0000431	Wide nasal bridge	5824	PEX19	ORPHA:44
HP:0000431	Wide nasal bridge	5824	PEX19	OMIM:614886
HP:0000431	Wide nasal bridge	5824	PEX19	ORPHA:912
HP:0000431	Wide nasal bridge	5828	PEX2	ORPHA:44
HP:0000431	Wide nasal bridge	5828	PEX2	ORPHA:912
HP:0000431	Wide nasal bridge	8504	PEX3	ORPHA:44
HP:0000431	Wide nasal bridge	8504	PEX3	ORPHA:912
HP:0000431	Wide nasal bridge	9409	PEX16	ORPHA:44
HP:0000431	Wide nasal bridge	9409	PEX16	ORPHA:912
HP:0000431	Wide nasal bridge	5190	PEX6	ORPHA:44
HP:0000431	Wide nasal bridge	5190	PEX6	ORPHA:912
HP:0000431	Wide nasal bridge	8799	PEX11B	ORPHA:44
HP:0000431	Wide nasal bridge	8799	PEX11B	ORPHA:912
HP:0000431	Wide nasal bridge	5194	PEX13	ORPHA:44
HP:0000431	Wide nasal bridge	5194	PEX13	ORPHA:912
HP:0000431	Wide nasal bridge	5195	PEX14	ORPHA:44
HP:0000431	Wide nasal bridge	5195	PEX14	OMIM:614887
HP:0000431	Wide nasal bridge	5195	PEX14	ORPHA:912
HP:0000431	Wide nasal bridge	7355	SLC35A2	OMIM:300896
HP:0000431	Wide nasal bridge	9968	MED12	OMIM:300895
HP:0000431	Wide nasal bridge	546	ATRX	OMIM:309580
HP:0000431	Wide nasal bridge	7140	TNNT3	ORPHA:1147
HP:0000431	Wide nasal bridge	7169	TPM2	ORPHA:1147
HP:0000431	Wide nasal bridge	79791	FBXO31	OMIM:615979
HP:0000431	Wide nasal bridge	6509	SLC1A4	ORPHA:447997
HP:0000431	Wide nasal bridge	157570	ESCO2	OMIM:268300
HP:0000431	Wide nasal bridge	2245	FGD1	ORPHA:915
HP:0000431	Wide nasal bridge	2245	FGD1	OMIM:305400
HP:0000431	Wide nasal bridge	90417	KNSTRN	OMIM:613328
HP:0000431	Wide nasal bridge	90417	KNSTRN	ORPHA:221139
HP:0000431	Wide nasal bridge	5293	PIK3CD	OMIM:613328
HP:0000431	Wide nasal bridge	5293	PIK3CD	ORPHA:221139
HP:0000431	Wide nasal bridge	55081	IFT57	OMIM:617927
HP:0000431	Wide nasal bridge	3720	JARID2	OMIM:620098
HP:0000431	Wide nasal bridge	4000	LMNA	ORPHA:2229
HP:0000431	Wide nasal bridge	4054	LTBP3	OMIM:617809
HP:0000431	Wide nasal bridge	6309	SC5D	OMIM:607330
HP:0000431	Wide nasal bridge	60529	ALX4	OMIM:613451
HP:0000431	Wide nasal bridge	9698	PUM1	OMIM:617931
HP:0000431	Wide nasal bridge	23394	ADNP	OMIM:615873
HP:0000431	Wide nasal bridge	8092	ALX1	OMIM:613456
HP:0000431	Wide nasal bridge	8092	ALX1	ORPHA:306542
HP:0000431	Wide nasal bridge	85358	SHANK3	OMIM:606232
HP:0000431	Wide nasal bridge	85358	SHANK3	ORPHA:48652
HP:0000431	Wide nasal bridge	23028	KDM1A	OMIM:616728
HP:0000431	Wide nasal bridge	23028	KDM1A	ORPHA:477993
HP:0000431	Wide nasal bridge	5859	QARS1	OMIM:615760
HP:0000431	Wide nasal bridge	5160	PDHA1	OMIM:312170
HP:0000431	Wide nasal bridge	10525	HYOU1	OMIM:233600
HP:0000431	Wide nasal bridge	4893	NRAS	OMIM:613224
HP:0000431	Wide nasal bridge	998	CDC42	OMIM:616737
HP:0000431	Wide nasal bridge	998	CDC42	ORPHA:487796
HP:0000431	Wide nasal bridge	3097	HIVEP2	OMIM:616977
HP:0000431	Wide nasal bridge	5915	RARB	OMIM:615524
HP:0000431	Wide nasal bridge	10982	MAPRE2	OMIM:616734
HP:0000431	Wide nasal bridge	5053	PAH	ORPHA:2209
HP:0000431	Wide nasal bridge	26224	FBXL3	OMIM:606220
HP:0000431	Wide nasal bridge	10735	STAG2	OMIM:301022
HP:0000431	Wide nasal bridge	10265	IRX5	OMIM:611174
HP:0000431	Wide nasal bridge	6774	STAT3	ORPHA:2314
HP:0000431	Wide nasal bridge	2068	ERCC2	ORPHA:1466
HP:0000431	Wide nasal bridge	2067	ERCC1	ORPHA:1466
HP:0000431	Wide nasal bridge	2074	ERCC6	ORPHA:1466
HP:0000431	Wide nasal bridge	2073	ERCC5	ORPHA:1466
HP:0000431	Wide nasal bridge	5925	RB1	ORPHA:1587
HP:0000431	Wide nasal bridge	23511	NUP188	OMIM:618804
HP:0000431	Wide nasal bridge	55603	TENT5A	OMIM:617952
HP:0000431	Wide nasal bridge	1063	CENPF	OMIM:243605
HP:0000431	Wide nasal bridge	55764	IFT122	OMIM:218330
HP:0000431	Wide nasal bridge	2248	FGF3	ORPHA:90024
HP:0000431	Wide nasal bridge	54539	NDUFB11	ORPHA:2556
HP:0000431	Wide nasal bridge	1349	COX7B	ORPHA:2556
HP:0000431	Wide nasal bridge	3052	HCCS	ORPHA:2556
HP:0000431	Wide nasal bridge	9241	NOG	OMIM:186500
HP:0000431	Wide nasal bridge	5718	PSMD12	ORPHA:529962
HP:0000431	Wide nasal bridge	2186	BPTF	ORPHA:529962
HP:0000431	Wide nasal bridge	7421	VDR	OMIM:277440
HP:0000431	Wide nasal bridge	55210	ATAD3A	OMIM:618810
HP:0000431	Wide nasal bridge	139285	AMER1	ORPHA:2780
HP:0000431	Wide nasal bridge	139285	AMER1	OMIM:300373
HP:0000431	Wide nasal bridge	2313	FLI1	ORPHA:2308
HP:0000431	Wide nasal bridge	60	ACTB	OMIM:243310
HP:0000431	Wide nasal bridge	60	ACTB	ORPHA:2995
HP:0000431	Wide nasal bridge	1861	TOR1A	OMIM:618947
HP:0000431	Wide nasal bridge	23040	MYT1L	OMIM:616521
HP:0000431	Wide nasal bridge	25885	POLR1A	ORPHA:1200
HP:0000431	Wide nasal bridge	10907	TXNL4A	ORPHA:1200
HP:0000431	Wide nasal bridge	91461	PKDCC	OMIM:618821
HP:0000431	Wide nasal bridge	285175	UNC80	ORPHA:371364
HP:0000431	Wide nasal bridge	25914	RTTN	ORPHA:468631
HP:0000431	Wide nasal bridge	55617	TASP1	OMIM:618950
HP:0000431	Wide nasal bridge	5075	PAX1	OMIM:615560
HP:0000431	Wide nasal bridge	114928	GPRASP2	OMIM:301018
HP:0000431	Wide nasal bridge	92335	STRADA	OMIM:611087
HP:0000431	Wide nasal bridge	6911	TBX6	ORPHA:1797
HP:0000431	Wide nasal bridge	202018	TAPT1	OMIM:616897
HP:0000431	Wide nasal bridge	3832	KIF11	ORPHA:2526
HP:0000431	Wide nasal bridge	7291	TWIST1	OMIM:617746
HP:0000431	Wide nasal bridge	6591	SNAI2	ORPHA:2884
HP:0000431	Wide nasal bridge	3815	KIT	ORPHA:2884
HP:0000431	Wide nasal bridge	51	ACOX1	OMIM:264470
HP:0000431	Wide nasal bridge	4094	MAF	OMIM:601088
HP:0000431	Wide nasal bridge	95	ACY1	OMIM:609924
HP:0000431	Wide nasal bridge	54888	NSUN2	OMIM:611091
HP:0000431	Wide nasal bridge	387	RHOA	OMIM:618727
HP:0000431	Wide nasal bridge	5116	PCNT	ORPHA:2637
HP:0000431	Wide nasal bridge	85378	TUBGCP6	ORPHA:2518
HP:0000431	Wide nasal bridge	27229	TUBGCP4	ORPHA:2518
HP:0000431	Wide nasal bridge	10733	PLK4	ORPHA:2518
HP:0000431	Wide nasal bridge	4750	NEK1	ORPHA:2751
HP:0000431	Wide nasal bridge	3778	KCNMA1	OMIM:618729
HP:0000431	Wide nasal bridge	25782	RAB3GAP2	ORPHA:2510
HP:0000431	Wide nasal bridge	22931	RAB18	ORPHA:2510
HP:0000431	Wide nasal bridge	128637	TBC1D20	ORPHA:2510
HP:0000431	Wide nasal bridge	71	ACTG1	ORPHA:2995
HP:0000431	Wide nasal bridge	4204	MECP2	OMIM:300260
HP:0000431	Wide nasal bridge	11133	KPTN	ORPHA:397612
HP:0000431	Wide nasal bridge	55553	SOX6	OMIM:618971
HP:0000431	Wide nasal bridge	5087	PBX1	OMIM:617641
HP:0000431	Wide nasal bridge	92935	MARS2	OMIM:616430
HP:0000431	Wide nasal bridge	523	ATP6V1A	OMIM:617403
HP:0000431	Wide nasal bridge	57728	WDR19	OMIM:614376
HP:0000431	Wide nasal bridge	3762	KCNJ5	ORPHA:37553
HP:0000431	Wide nasal bridge	3759	KCNJ2	ORPHA:37553
HP:0000431	Wide nasal bridge	9990	SLC12A6	OMIM:218000
HP:0004502	Bilateral choanal atresia	8626	TP63	OMIM:106260
HP:0004502	Bilateral choanal atresia	10606	PAICS	OMIM:619859
HP:0004502	Bilateral choanal atresia	25885	POLR1A	ORPHA:1200
HP:0004502	Bilateral choanal atresia	2542	SLC37A4	OMIM:619525
HP:0004502	Bilateral choanal atresia	2304	FOXE1	OMIM:241850
HP:0004502	Bilateral choanal atresia	8085	KMT2D	OMIM:620186
HP:0004502	Bilateral choanal atresia	79633	FAT4	ORPHA:314679
HP:0004502	Bilateral choanal atresia	8642	DCHS1	ORPHA:314679
HP:0004502	Bilateral choanal atresia	10907	TXNL4A	OMIM:608572
HP:0004528	Generalized hypotrichosis	10804	GJB6	ORPHA:189
HP:0004528	Generalized hypotrichosis	1041	CDSN	ORPHA:90368
HP:0004528	Generalized hypotrichosis	121391	KRT74	ORPHA:90368
HP:0004528	Generalized hypotrichosis	2697	GJA1	ORPHA:1010
HP:0004523	Long eyebrows	11253	MAN1B1	OMIM:614202
HP:0004523	Long eyebrows	11253	MAN1B1	ORPHA:397941
HP:0004523	Long eyebrows	4893	NRAS	OMIM:613224
HP:0004523	Long eyebrows	10908	PNPLA6	OMIM:275400
HP:0004523	Long eyebrows	23013	SPEN	OMIM:619312
HP:0004524	Temporal hypotrichosis	3891	KRT85	OMIM:602032
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	1130	LYST	ORPHA:167
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	79083	MLPH	OMIM:609227
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4644	MYO5A	OMIM:214450
HP:0004529	Atrophic, patchy alopecia	8517	IKBKG	OMIM:308300
HP:0004529	Atrophic, patchy alopecia	1308	COL17A1	ORPHA:251393
HP:0004529	Atrophic, patchy alopecia	3691	ITGB4	ORPHA:251393
HP:0000499	Abnormal eyelash morphology	147409	DSG4	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3892	KRT86	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3889	KRT83	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3887	KRT81	ORPHA:573
HP:0000499	Abnormal eyelash morphology	157680	VPS13B	ORPHA:193
HP:0000499	Abnormal eyelash morphology	1041	CDSN	ORPHA:90368
HP:0000499	Abnormal eyelash morphology	121391	KRT74	ORPHA:90368
HP:0000499	Abnormal eyelash morphology	121391	KRT74	OMIM:194300
HP:0000499	Abnormal eyelash morphology	121391	KRT74	OMIM:613981
HP:0000499	Abnormal eyelash morphology	85378	TUBGCP6	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	27229	TUBGCP4	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	10733	PLK4	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	2260	FGFR1	ORPHA:2396
HP:0000499	Abnormal eyelash morphology	22947	DUX4L1	ORPHA:269
HP:0000499	Abnormal eyelash morphology	1789	DNMT3B	ORPHA:269
HP:0000499	Abnormal eyelash morphology	2483	FRG1	ORPHA:269
HP:0000499	Abnormal eyelash morphology	23347	SMCHD1	ORPHA:269
HP:0000499	Abnormal eyelash morphology	100288687	DUX4	ORPHA:269
HP:0000499	Abnormal eyelash morphology	64131	XYLT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	124583	CANT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	54539	NDUFB11	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	1349	COX7B	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	3052	HCCS	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	1281	COL3A1	ORPHA:286
HP:0000499	Abnormal eyelash morphology	374879	ZNF699	OMIM:619488
HP:0000499	Abnormal eyelash morphology	80169	CTC1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	26277	TINF2	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55651	NHP2	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	79650	USB1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55135	WRAP53	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	51750	RTEL1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	4869	NPM1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7012	TERC	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55505	NOP10	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	5073	PARN	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7015	TERT	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	1736	DKC1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7298	TYMS	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	355	FAS	ORPHA:3437
HP:0000499	Abnormal eyelash morphology	26191	PTPN22	ORPHA:3437
HP:0000499	Abnormal eyelash morphology	3832	KIF11	ORPHA:2526
HP:0000499	Abnormal eyelash morphology	5333	PLCD1	ORPHA:2387
HP:0000499	Abnormal eyelash morphology	64093	SMOC1	OMIM:206920
HP:0000499	Abnormal eyelash morphology	1717	DHCR7	ORPHA:818
HP:0000499	Abnormal eyelash morphology	8036	SHOC2	OMIM:607721
HP:0000499	Abnormal eyelash morphology	11253	MAN1B1	ORPHA:397941
HP:0000499	Abnormal eyelash morphology	23013	SPEN	OMIM:619312
HP:0000499	Abnormal eyelash morphology	8367	H4C5	OMIM:619950
HP:0000499	Abnormal eyelash morphology	9853	RUSC2	OMIM:617773
HP:0000499	Abnormal eyelash morphology	6228	RPS23	OMIM:617412
HP:0000499	Abnormal eyelash morphology	4897	NRCAM	OMIM:619833
HP:0000499	Abnormal eyelash morphology	10586	MAB21L2	OMIM:615877
HP:0000499	Abnormal eyelash morphology	10274	STAG1	ORPHA:502434
HP:0000499	Abnormal eyelash morphology	85358	SHANK3	OMIM:606232
HP:0000499	Abnormal eyelash morphology	85358	SHANK3	ORPHA:48652
HP:0000499	Abnormal eyelash morphology	84570	COL25A1	ORPHA:91411
HP:0000499	Abnormal eyelash morphology	79776	ZFHX4	ORPHA:91411
HP:0000499	Abnormal eyelash morphology	27125	AFF4	ORPHA:444077
HP:0000499	Abnormal eyelash morphology	27125	AFF4	OMIM:616368
HP:0000499	Abnormal eyelash morphology	10847	SRCAP	OMIM:136140
HP:0000499	Abnormal eyelash morphology	1436	CSF1R	OMIM:618476
HP:0000499	Abnormal eyelash morphology	9578	CDC42BPB	OMIM:619841
HP:0000499	Abnormal eyelash morphology	29998	BICRA	OMIM:619325
HP:0000499	Abnormal eyelash morphology	80816	ASXL3	OMIM:615485
HP:0000499	Abnormal eyelash morphology	10978	CLP1	ORPHA:411493
HP:0000499	Abnormal eyelash morphology	10978	CLP1	OMIM:615803
HP:0000499	Abnormal eyelash morphology	6536	SLC6A9	OMIM:617301
HP:0000499	Abnormal eyelash morphology	51506	UFC1	OMIM:618076
HP:0000499	Abnormal eyelash morphology	9442	MED27	OMIM:619286
HP:0000499	Abnormal eyelash morphology	65082	VPS33A	OMIM:617303
HP:0000499	Abnormal eyelash morphology	65082	VPS33A	ORPHA:505248
HP:0000499	Abnormal eyelash morphology	526	ATP6V1B2	OMIM:616455
HP:0000499	Abnormal eyelash morphology	526	ATP6V1B2	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	55690	PACS1	OMIM:615009
HP:0000499	Abnormal eyelash morphology	55690	PACS1	ORPHA:329224
HP:0000499	Abnormal eyelash morphology	4081	MAB21L1	OMIM:618479
HP:0000499	Abnormal eyelash morphology	2250	FGF5	OMIM:190330
HP:0000499	Abnormal eyelash morphology	10908	PNPLA6	OMIM:275400
HP:0000499	Abnormal eyelash morphology	4297	KMT2A	OMIM:605130
HP:0000499	Abnormal eyelash morphology	4297	KMT2A	ORPHA:319182
HP:0000499	Abnormal eyelash morphology	55777	MBD5	OMIM:156200
HP:0000499	Abnormal eyelash morphology	23221	RHOBTB2	OMIM:618004
HP:0000499	Abnormal eyelash morphology	1956	EGFR	OMIM:616069
HP:0000499	Abnormal eyelash morphology	4998	ORC1	OMIM:224690
HP:0000499	Abnormal eyelash morphology	4052	LTBP1	OMIM:619451
HP:0000499	Abnormal eyelash morphology	8260	NAA10	OMIM:300855
HP:0000499	Abnormal eyelash morphology	80204	FBXO11	OMIM:618089
HP:0000499	Abnormal eyelash morphology	8120	AP3B2	OMIM:617276
HP:0000499	Abnormal eyelash morphology	5119	CHMP1A	OMIM:614961
HP:0000499	Abnormal eyelash morphology	55603	TENT5A	OMIM:617952
HP:0000499	Abnormal eyelash morphology	4853	NOTCH2	OMIM:102500
HP:0000499	Abnormal eyelash morphology	64359	NXN	OMIM:618529
HP:0000499	Abnormal eyelash morphology	64359	NXN	ORPHA:1507
HP:0000499	Abnormal eyelash morphology	4920	ROR2	ORPHA:1507
HP:0000499	Abnormal eyelash morphology	4920	ROR2	OMIM:268310
HP:0000499	Abnormal eyelash morphology	7841	MOGS	OMIM:606056
HP:0000499	Abnormal eyelash morphology	7841	MOGS	ORPHA:79330
HP:0000499	Abnormal eyelash morphology	2200	FBN1	ORPHA:969
HP:0000499	Abnormal eyelash morphology	2200	FBN1	OMIM:102370
HP:0000499	Abnormal eyelash morphology	4054	LTBP3	ORPHA:969
HP:0000499	Abnormal eyelash morphology	22827	PUF60	ORPHA:508488
HP:0000499	Abnormal eyelash morphology	9377	COX5A	OMIM:619064
HP:0000499	Abnormal eyelash morphology	6045	RNF2	OMIM:619460
HP:0000499	Abnormal eyelash morphology	6872	TAF1	ORPHA:480907
HP:0000499	Abnormal eyelash morphology	23258	DENND5A	OMIM:617281
HP:0000499	Abnormal eyelash morphology	9496	TBX4	ORPHA:261279
HP:0000499	Abnormal eyelash morphology	1105	CHD1	OMIM:617682
HP:0000499	Abnormal eyelash morphology	22872	SEC31A	OMIM:618651
HP:0000499	Abnormal eyelash morphology	283987	HID1	OMIM:619983
HP:0000499	Abnormal eyelash morphology	23314	SATB2	OMIM:612313
HP:0000499	Abnormal eyelash morphology	649	BMP1	OMIM:614856
HP:0000499	Abnormal eyelash morphology	2783	GNB2	OMIM:619503
HP:0000499	Abnormal eyelash morphology	3782	KCNN3	OMIM:618658
HP:0000499	Abnormal eyelash morphology	3782	KCNN3	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	3756	KCNH1	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	3756	KCNH1	ORPHA:420561
HP:0000499	Abnormal eyelash morphology	4247	MGAT2	OMIM:212066
HP:0000499	Abnormal eyelash morphology	4247	MGAT2	ORPHA:79329
HP:0000499	Abnormal eyelash morphology	50801	KCNK4	OMIM:618381
HP:0000499	Abnormal eyelash morphology	10664	CTCF	ORPHA:363611
HP:0000499	Abnormal eyelash morphology	10664	CTCF	OMIM:615502
HP:0000499	Abnormal eyelash morphology	57003	CCDC47	OMIM:618268
HP:0000499	Abnormal eyelash morphology	9150	CTDP1	ORPHA:48431
HP:0000499	Abnormal eyelash morphology	149371	EXOC8	OMIM:619076
HP:0000499	Abnormal eyelash morphology	51633	OTUD6B	OMIM:617452
HP:0000499	Abnormal eyelash morphology	51633	OTUD6B	ORPHA:505237
HP:0000499	Abnormal eyelash morphology	92609	TIMM50	OMIM:617698
HP:0000499	Abnormal eyelash morphology	85440	DOCK7	ORPHA:411986
HP:0000499	Abnormal eyelash morphology	85440	DOCK7	OMIM:615859
HP:0000499	Abnormal eyelash morphology	54499	TMCO1	OMIM:213980
HP:0000499	Abnormal eyelash morphology	8405	SPOP	OMIM:618828
HP:0000499	Abnormal eyelash morphology	283209	PGM2L1	OMIM:620191
HP:0000499	Abnormal eyelash morphology	4094	MAF	ORPHA:1272
HP:0000499	Abnormal eyelash morphology	51305	KCNK9	OMIM:612292
HP:0000499	Abnormal eyelash morphology	8567	MADD	OMIM:619005
HP:0000499	Abnormal eyelash morphology	1806	DPYD	ORPHA:1675
HP:0000499	Abnormal eyelash morphology	23261	CAMTA1	OMIM:614756
HP:0000499	Abnormal eyelash morphology	55343	SLC35C1	ORPHA:99843
HP:0000499	Abnormal eyelash morphology	55691	FRMD4A	OMIM:616819
HP:0000499	Abnormal eyelash morphology	55691	FRMD4A	ORPHA:466688
HP:0000499	Abnormal eyelash morphology	5495	PPM1B	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	6519	SLC3A1	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	9581	PREPL	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	79823	CAMKMT	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	55252	ASXL2	OMIM:617190
HP:0000499	Abnormal eyelash morphology	10463	SLC30A9	OMIM:617595
HP:0000499	Abnormal eyelash morphology	738	VPS51	OMIM:618606
HP:0000499	Abnormal eyelash morphology	4848	CNOT2	OMIM:618608
HP:0000499	Abnormal eyelash morphology	84842	HPDL	OMIM:619026
HP:0000499	Abnormal eyelash morphology	5881	RAC3	OMIM:618577
HP:0000499	Abnormal eyelash morphology	672	BRCA1	OMIM:617883
HP:0000499	Abnormal eyelash morphology	9181	ARHGEF2	OMIM:617523
HP:0000499	Abnormal eyelash morphology	6878	TAF6	OMIM:617126
HP:0000499	Abnormal eyelash morphology	1642	DDB1	OMIM:619426
HP:0000499	Abnormal eyelash morphology	7407	VARS1	OMIM:617802
HP:0000499	Abnormal eyelash morphology	54345	SOX18	OMIM:137940
HP:0000499	Abnormal eyelash morphology	54345	SOX18	OMIM:607823
HP:0000499	Abnormal eyelash morphology	54345	SOX18	ORPHA:69735
HP:0000499	Abnormal eyelash morphology	8626	TP63	OMIM:106260
HP:0000499	Abnormal eyelash morphology	5317	PKP1	OMIM:604536
HP:0000499	Abnormal eyelash morphology	1896	EDA	OMIM:305100
HP:0000499	Abnormal eyelash morphology	1832	DSP	ORPHA:158687
HP:0000499	Abnormal eyelash morphology	3728	JUP	ORPHA:158687
HP:0000499	Abnormal eyelash morphology	4035	LRP1	OMIM:604093
HP:0000499	Abnormal eyelash morphology	673	BRAF	OMIM:115150
HP:0000499	Abnormal eyelash morphology	128178	EDARADD	OMIM:614941
HP:0000499	Abnormal eyelash morphology	64682	ANAPC1	OMIM:618625
HP:0000499	Abnormal eyelash morphology	11128	POLR3A	OMIM:264090
HP:0000499	Abnormal eyelash morphology	10269	ZMPSTE24	OMIM:275210
HP:0000499	Abnormal eyelash morphology	80144	FRAS1	OMIM:219000
HP:0000499	Abnormal eyelash morphology	3891	KRT85	OMIM:602032
HP:0000499	Abnormal eyelash morphology	55806	HR	ORPHA:701
HP:0000499	Abnormal eyelash morphology	55806	HR	OMIM:203655
HP:0000499	Abnormal eyelash morphology	10283	CWC27	ORPHA:166035
HP:0000499	Abnormal eyelash morphology	117581	TWIST2	ORPHA:920
HP:0000499	Abnormal eyelash morphology	117581	TWIST2	OMIM:200110
HP:0000499	Abnormal eyelash morphology	9401	RECQL4	OMIM:268400
HP:0000499	Abnormal eyelash morphology	2255	FGF10	OMIM:620193
HP:0000499	Abnormal eyelash morphology	2706	GJB2	OMIM:602540
HP:0000499	Abnormal eyelash morphology	84172	POLR1B	ORPHA:861
HP:0000499	Abnormal eyelash morphology	9533	POLR1C	ORPHA:861
HP:0000499	Abnormal eyelash morphology	51082	POLR1D	ORPHA:861
HP:0000499	Abnormal eyelash morphology	6949	TCOF1	ORPHA:861
HP:0000499	Abnormal eyelash morphology	51360	MBTPS2	OMIM:308205
HP:0000499	Abnormal eyelash morphology	54101	RIPK4	OMIM:263650
HP:0000499	Abnormal eyelash morphology	4000	LMNA	ORPHA:363618
HP:0000499	Abnormal eyelash morphology	4000	LMNA	ORPHA:90153
HP:0000499	Abnormal eyelash morphology	4953	ODC1	ORPHA:544488
HP:0000499	Abnormal eyelash morphology	3229	HOXC13	OMIM:614931
HP:0000499	Abnormal eyelash morphology	10651	MTX2	ORPHA:90153
HP:0000499	Abnormal eyelash morphology	26227	PHGDH	OMIM:256520
HP:0000499	Abnormal eyelash morphology	147495	APCDD1	OMIM:605389
HP:0000499	Abnormal eyelash morphology	147495	APCDD1	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	60529	ALX4	OMIM:613451
HP:0000499	Abnormal eyelash morphology	81607	NECTIN4	OMIM:613573
HP:0000499	Abnormal eyelash morphology	8092	ALX1	OMIM:613456
HP:0000499	Abnormal eyelash morphology	8092	ALX1	ORPHA:306542
HP:0000499	Abnormal eyelash morphology	57539	WDR35	OMIM:613610
HP:0000499	Abnormal eyelash morphology	267010	RNU12	OMIM:603116
HP:0000499	Abnormal eyelash morphology	1825	DSC3	OMIM:613102
HP:0000499	Abnormal eyelash morphology	9076	CLDN1	ORPHA:59303
HP:0000499	Abnormal eyelash morphology	9076	CLDN1	OMIM:607626
HP:0000499	Abnormal eyelash morphology	83999	KREMEN1	OMIM:617392
HP:0000499	Abnormal eyelash morphology	10265	IRX5	OMIM:611174
HP:0000499	Abnormal eyelash morphology	112802	KRT71	OMIM:615896
HP:0000499	Abnormal eyelash morphology	1801	DPH1	OMIM:616901
HP:0000499	Abnormal eyelash morphology	22845	DOLK	OMIM:610768
HP:0000499	Abnormal eyelash morphology	10804	GJB6	OMIM:129500
HP:0000499	Abnormal eyelash morphology	10804	GJB6	ORPHA:477
HP:0000499	Abnormal eyelash morphology	10804	GJB6	ORPHA:189
HP:0000499	Abnormal eyelash morphology	7286	TUFT1	OMIM:607655
HP:0000499	Abnormal eyelash morphology	1301	COL11A1	ORPHA:560
HP:0000499	Abnormal eyelash morphology	9896	FIG4	ORPHA:3472
HP:0000499	Abnormal eyelash morphology	9896	FIG4	OMIM:216340
HP:0000499	Abnormal eyelash morphology	55697	VAC14	ORPHA:3472
HP:0000499	Abnormal eyelash morphology	10682	EBP	ORPHA:35173
HP:0000499	Abnormal eyelash morphology	10682	EBP	OMIM:302960
HP:0000499	Abnormal eyelash morphology	1474	CST6	OMIM:618535
HP:0000499	Abnormal eyelash morphology	374393	FAM111B	OMIM:615704
HP:0000499	Abnormal eyelash morphology	2697	GJA1	OMIM:257850
HP:0000499	Abnormal eyelash morphology	2697	GJA1	ORPHA:1010
HP:0000499	Abnormal eyelash morphology	11285	B4GALT7	ORPHA:75496
HP:0000499	Abnormal eyelash morphology	200879	LIPH	OMIM:604379
HP:0000499	Abnormal eyelash morphology	200879	LIPH	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	147183	KRT25	OMIM:616760
HP:0000499	Abnormal eyelash morphology	1001	CDH3	OMIM:225280
HP:0000499	Abnormal eyelash morphology	6023	RMRP	OMIM:250250
HP:0000499	Abnormal eyelash morphology	1909	EDNRA	OMIM:616367
HP:0000499	Abnormal eyelash morphology	3675	ITGA3	OMIM:614748
HP:0000499	Abnormal eyelash morphology	10913	EDAR	OMIM:129490
HP:0000499	Abnormal eyelash morphology	10913	EDAR	OMIM:224900
HP:0000499	Abnormal eyelash morphology	10161	LPAR6	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	10161	LPAR6	OMIM:278150
HP:0000499	Abnormal eyelash morphology	51611	DPH5	OMIM:620070
HP:0000499	Abnormal eyelash morphology	136647	MPLKIP	OMIM:234050
HP:0000499	Abnormal eyelash morphology	25959	KANK2	OMIM:616099
HP:0000499	Abnormal eyelash morphology	54676	GTPBP2	OMIM:617988
HP:0000499	Abnormal eyelash morphology	84946	LTV1	OMIM:620199
HP:0000499	Abnormal eyelash morphology	4763	NF1	ORPHA:139474
HP:0000499	Abnormal eyelash morphology	5818	NECTIN1	OMIM:225060
HP:0000499	Abnormal eyelash morphology	84168	ANTXR1	OMIM:230740
HP:0000499	Abnormal eyelash morphology	84168	ANTXR1	ORPHA:2067
HP:0000499	Abnormal eyelash morphology	8815	BANF1	OMIM:614008
HP:0000499	Abnormal eyelash morphology	641	BLM	ORPHA:125
HP:0000499	Abnormal eyelash morphology	90121	TSR2	OMIM:300946
HP:0000499	Abnormal eyelash morphology	120766137	HRURF	OMIM:146550
HP:0000499	Abnormal eyelash morphology	7227	TRPS1	ORPHA:77258
HP:0000499	Abnormal eyelash morphology	11005	SPINK5	ORPHA:634
HP:0000499	Abnormal eyelash morphology	1387	CREBBP	ORPHA:353277
HP:0000499	Abnormal eyelash morphology	2033	EP300	ORPHA:353284
HP:0000499	Abnormal eyelash morphology	54892	NCAPG2	OMIM:618460
HP:0000499	Abnormal eyelash morphology	5077	PAX3	ORPHA:894
HP:0000499	Abnormal eyelash morphology	5077	PAX3	OMIM:193500
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	OMIM:600501
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	OMIM:277580
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	ORPHA:897
HP:0000499	Abnormal eyelash morphology	4286	MITF	OMIM:193510
HP:0000499	Abnormal eyelash morphology	4286	MITF	OMIM:103500
HP:0000499	Abnormal eyelash morphology	4286	MITF	ORPHA:897
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:613266
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:611584
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:609136
HP:0000499	Abnormal eyelash morphology	6663	SOX10	ORPHA:897
HP:0000499	Abnormal eyelash morphology	1908	EDN3	OMIM:613265
HP:0000499	Abnormal eyelash morphology	1908	EDN3	ORPHA:897
HP:0000499	Abnormal eyelash morphology	79083	MLPH	OMIM:609227
HP:0000499	Abnormal eyelash morphology	4157	MC1R	ORPHA:79432
HP:0000499	Abnormal eyelash morphology	4948	OCA2	ORPHA:79432
HP:0000499	Abnormal eyelash morphology	7306	TYRP1	ORPHA:79433
HP:0000499	Abnormal eyelash morphology	6591	SNAI2	ORPHA:2884
HP:0000499	Abnormal eyelash morphology	3815	KIT	ORPHA:2884
HP:0000499	Abnormal eyelash morphology	4644	MYO5A	OMIM:214450
HP:0000499	Abnormal eyelash morphology	10262	SF3B4	OMIM:154400
HP:0000499	Abnormal eyelash morphology	6768	ST14	OMIM:602400
HP:0000499	Abnormal eyelash morphology	1857	DVL3	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	7474	WNT5A	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	1855	DVL1	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	2535	FZD2	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	23476	BRD4	ORPHA:199
HP:0000499	Abnormal eyelash morphology	9126	SMC3	ORPHA:199
HP:0000499	Abnormal eyelash morphology	8243	SMC1A	ORPHA:199
HP:0000499	Abnormal eyelash morphology	25836	NIPBL	ORPHA:199
HP:0000499	Abnormal eyelash morphology	25836	NIPBL	OMIM:122470
HP:0000499	Abnormal eyelash morphology	55869	HDAC8	ORPHA:199
HP:0000499	Abnormal eyelash morphology	5885	RAD21	ORPHA:199
HP:0000499	Abnormal eyelash morphology	6595	SMARCA2	ORPHA:3051
HP:0000499	Abnormal eyelash morphology	10735	STAG2	OMIM:301022
HP:0000499	Abnormal eyelash morphology	3764	KCNJ8	ORPHA:1517
HP:0000499	Abnormal eyelash morphology	10060	ABCC9	ORPHA:1517
HP:0000499	Abnormal eyelash morphology	10060	ABCC9	OMIM:239850
HP:0000499	Abnormal eyelash morphology	3339	HSPG2	OMIM:255800
HP:0000499	Abnormal eyelash morphology	3339	HSPG2	ORPHA:800
HP:0000499	Abnormal eyelash morphology	29957	SLC25A24	ORPHA:2963
HP:0000499	Abnormal eyelash morphology	80324	PUS1	OMIM:600462
HP:0000499	Abnormal eyelash morphology	80324	PUS1	ORPHA:2598
HP:0000499	Abnormal eyelash morphology	1500	CTNND1	OMIM:617681
HP:0000499	Abnormal eyelash morphology	1500	CTNND1	ORPHA:1997
HP:0000499	Abnormal eyelash morphology	2303	FOXC2	OMIM:153400
HP:0000499	Abnormal eyelash morphology	2303	FOXC2	ORPHA:33001
HP:0000499	Abnormal eyelash morphology	1748	DLX4	OMIM:616788
HP:0000499	Abnormal eyelash morphology	57479	PRR12	OMIM:619539
HP:0000499	Abnormal eyelash morphology	999	CDH1	OMIM:119580
HP:0000499	Abnormal eyelash morphology	999	CDH1	ORPHA:1997
HP:0000499	Abnormal eyelash morphology	51067	YARS2	ORPHA:2598
HP:0000499	Abnormal eyelash morphology	8313	AXIN2	OMIM:608615
HP:0000499	Abnormal eyelash morphology	4047	LSS	OMIM:618275
HP:0000499	Abnormal eyelash morphology	80326	WNT10A	OMIM:150400
HP:0000499	Abnormal eyelash morphology	6597	SMARCA4	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6598	SMARCB1	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6659	SOX4	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	8289	ARID1A	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	5977	DPF2	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6601	SMARCC2	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6602	SMARCD1	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	57492	ARID1B	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	196528	ARID2	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6605	SMARCE1	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6664	SOX11	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	4001	LMNB1	OMIM:619179
HP:0000499	Abnormal eyelash morphology	29920	PYCR2	OMIM:616420
HP:0000499	Abnormal eyelash morphology	8085	KMT2D	OMIM:147920
HP:0000499	Abnormal eyelash morphology	7403	KDM6A	OMIM:147920
HP:0000499	Abnormal eyelash morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000499	Abnormal eyelash morphology	7390	UROS	OMIM:263700
HP:0000499	Abnormal eyelash morphology	7390	UROS	ORPHA:79277
HP:0000499	Abnormal eyelash morphology	2623	GATA1	ORPHA:79277
HP:0000499	Abnormal eyelash morphology	7389	UROD	ORPHA:95159
HP:0000499	Abnormal eyelash morphology	2702	GJA5	OMIM:612474
HP:0000499	Abnormal eyelash morphology	2703	GJA8	OMIM:612474
HP:0000499	Abnormal eyelash morphology	79574	EPS8L3	ORPHA:444
HP:0000499	Abnormal eyelash morphology	6144	RPL21	OMIM:615885
HP:0000499	Abnormal eyelash morphology	6635	SNRPE	OMIM:615059
HP:0000499	Abnormal eyelash morphology	5604	MAP2K1	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	5605	MAP2K2	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	3845	KRAS	ORPHA:1340
HP:0004540	Congenital, generalized hypertrichosis	4297	KMT2A	ORPHA:319182
HP:0004540	Congenital, generalized hypertrichosis	23461	ABCA5	OMIM:135400
HP:0004540	Congenital, generalized hypertrichosis	10060	ABCC9	OMIM:239850
HP:0004554	Generalized hypertrichosis	10847	SRCAP	OMIM:136140
HP:0004554	Generalized hypertrichosis	526	ATP6V1B2	ORPHA:3473
HP:0004554	Generalized hypertrichosis	3756	KCNH1	ORPHA:3473
HP:0004554	Generalized hypertrichosis	3782	KCNN3	ORPHA:3473
HP:0004554	Generalized hypertrichosis	26040	SETBP1	ORPHA:798
HP:0004554	Generalized hypertrichosis	4758	NEU1	ORPHA:93399
HP:0004554	Generalized hypertrichosis	4758	NEU1	ORPHA:93400
HP:0004554	Generalized hypertrichosis	4297	KMT2A	OMIM:605130
HP:0000349	Widow's peak	2245	FGD1	OMIM:305400
HP:0000349	Widow's peak	1947	EFNB1	OMIM:304110
HP:0000349	Widow's peak	1947	EFNB1	ORPHA:1520
HP:0000349	Widow's peak	8092	ALX1	ORPHA:306542
HP:0000349	Widow's peak	55343	SLC35C1	OMIM:266265
HP:0000349	Widow's peak	55027	HEATR3	OMIM:620072
HP:0000349	Widow's peak	257	ALX3	OMIM:136760
HP:0000349	Widow's peak	257	ALX3	ORPHA:391474
HP:0000349	Widow's peak	4281	MID1	OMIM:300000
HP:0000349	Widow's peak	4281	MID1	ORPHA:2745
HP:0000349	Widow's peak	6857	SYT1	ORPHA:522077
HP:0000349	Widow's peak	10220	GDF11	OMIM:619122
HP:0000349	Widow's peak	473	RERE	OMIM:616975
HP:0000349	Widow's peak	526	ATP6V1B2	OMIM:616455
HP:0000349	Widow's peak	23384	SPECC1L	OMIM:145420
HP:0000349	Widow's peak	23384	SPECC1L	ORPHA:1519
HP:0000349	Widow's peak	22907	DHX30	OMIM:617804
HP:0000349	Widow's peak	6304	SATB1	OMIM:619229
HP:0000349	Widow's peak	4036	LRP2	ORPHA:2143
HP:0000349	Widow's peak	7291	TWIST1	OMIM:617746
HP:0000349	Widow's peak	10522	DEAF1	OMIM:615828
HP:0000349	Widow's peak	2316	FLNA	OMIM:304120
HP:0000574	Thick eyebrow	8243	SMC1A	OMIM:300590
HP:0000574	Thick eyebrow	8243	SMC1A	ORPHA:199
HP:0000574	Thick eyebrow	9131	AIFM1	OMIM:300232
HP:0000574	Thick eyebrow	26235	FBXL4	OMIM:615471
HP:0000574	Thick eyebrow	8367	H4C5	OMIM:619950
HP:0000574	Thick eyebrow	9853	RUSC2	OMIM:617773
HP:0000574	Thick eyebrow	26128	KIFBP	OMIM:609460
HP:0000574	Thick eyebrow	6228	RPS23	OMIM:617412
HP:0000574	Thick eyebrow	5885	RAD21	OMIM:614701
HP:0000574	Thick eyebrow	5885	RAD21	ORPHA:199
HP:0000574	Thick eyebrow	9820	CUL7	ORPHA:2616
HP:0000574	Thick eyebrow	9820	CUL7	OMIM:273750
HP:0000574	Thick eyebrow	23363	OBSL1	ORPHA:2616
HP:0000574	Thick eyebrow	83987	CCDC8	ORPHA:2616
HP:0000574	Thick eyebrow	4897	NRCAM	OMIM:619833
HP:0000574	Thick eyebrow	7021	TFAP2B	OMIM:169100
HP:0000574	Thick eyebrow	1788	DNMT3A	ORPHA:404443
HP:0000574	Thick eyebrow	1788	DNMT3A	OMIM:615879
HP:0000574	Thick eyebrow	10479	SLC9A6	OMIM:300243
HP:0000574	Thick eyebrow	10479	SLC9A6	ORPHA:85278
HP:0000574	Thick eyebrow	1278	COL1A2	ORPHA:230851
HP:0000574	Thick eyebrow	80816	ASXL3	OMIM:615485
HP:0000574	Thick eyebrow	526	ATP6V1B2	OMIM:616455
HP:0000574	Thick eyebrow	526	ATP6V1B2	ORPHA:3473
HP:0000574	Thick eyebrow	23384	SPECC1L	ORPHA:1519
HP:0000574	Thick eyebrow	3764	KCNJ8	ORPHA:1517
HP:0000574	Thick eyebrow	10060	ABCC9	ORPHA:1517
HP:0000574	Thick eyebrow	57082	KNL1	OMIM:604321
HP:0000574	Thick eyebrow	29957	SLC25A24	ORPHA:2963
HP:0000574	Thick eyebrow	6595	SMARCA2	OMIM:619293
HP:0000574	Thick eyebrow	6197	RPS6KA3	OMIM:303600
HP:0000574	Thick eyebrow	57492	ARID1B	OMIM:135900
HP:0000574	Thick eyebrow	57492	ARID1B	ORPHA:1465
HP:0000574	Thick eyebrow	5119	CHMP1A	OMIM:614961
HP:0000574	Thick eyebrow	4853	NOTCH2	OMIM:102500
HP:0000574	Thick eyebrow	4853	NOTCH2	ORPHA:955
HP:0000574	Thick eyebrow	55699	IARS2	ORPHA:436174
HP:0000574	Thick eyebrow	55699	IARS2	OMIM:616007
HP:0000574	Thick eyebrow	1009	CDH11	OMIM:619736
HP:0000574	Thick eyebrow	1009	CDH11	OMIM:211380
HP:0000574	Thick eyebrow	10015	PDCD6IP	OMIM:620047
HP:0000574	Thick eyebrow	8289	ARID1A	OMIM:614607
HP:0000574	Thick eyebrow	8289	ARID1A	ORPHA:1465
HP:0000574	Thick eyebrow	6598	SMARCB1	OMIM:614608
HP:0000574	Thick eyebrow	6598	SMARCB1	ORPHA:1465
HP:0000574	Thick eyebrow	6597	SMARCA4	OMIM:614609
HP:0000574	Thick eyebrow	6597	SMARCA4	ORPHA:1465
HP:0000574	Thick eyebrow	157680	VPS13B	OMIM:216550
HP:0000574	Thick eyebrow	157680	VPS13B	ORPHA:193
HP:0000574	Thick eyebrow	6872	TAF1	ORPHA:480907
HP:0000574	Thick eyebrow	4330	MN1	OMIM:618774
HP:0000574	Thick eyebrow	4297	KMT2A	ORPHA:319182
HP:0000574	Thick eyebrow	4297	KMT2A	OMIM:605130
HP:0000574	Thick eyebrow	55148	UBR7	OMIM:619189
HP:0000574	Thick eyebrow	23461	ABCA5	ORPHA:2026
HP:0000574	Thick eyebrow	93627	TBCK	ORPHA:488632
HP:0000574	Thick eyebrow	2783	GNB2	OMIM:619503
HP:0000574	Thick eyebrow	3782	KCNN3	OMIM:618658
HP:0000574	Thick eyebrow	3782	KCNN3	ORPHA:3473
HP:0000574	Thick eyebrow	3756	KCNH1	ORPHA:3473
HP:0000574	Thick eyebrow	3756	KCNH1	OMIM:135500
HP:0000574	Thick eyebrow	3756	KCNH1	ORPHA:420561
HP:0000574	Thick eyebrow	4247	MGAT2	OMIM:212066
HP:0000574	Thick eyebrow	253738	EBF3	OMIM:617330
HP:0000574	Thick eyebrow	1182	CLCN3	OMIM:619512
HP:0000574	Thick eyebrow	388662	SLC6A17	ORPHA:457212
HP:0000574	Thick eyebrow	55280	CWF19L1	OMIM:616127
HP:0000574	Thick eyebrow	27125	AFF4	OMIM:616368
HP:0000574	Thick eyebrow	27125	AFF4	ORPHA:444077
HP:0000574	Thick eyebrow	26053	AUTS2	OMIM:615834
HP:0000574	Thick eyebrow	5593	PRKG2	OMIM:619636
HP:0000574	Thick eyebrow	54499	TMCO1	OMIM:213980
HP:0000574	Thick eyebrow	54499	TMCO1	ORPHA:1394
HP:0000574	Thick eyebrow	285362	SUMF1	ORPHA:585
HP:0000574	Thick eyebrow	5700	PSMC1	OMIM:620071
HP:0000574	Thick eyebrow	54828	BCAS3	OMIM:619641
HP:0000574	Thick eyebrow	4089	SMAD4	OMIM:139210
HP:0000574	Thick eyebrow	253959	RALGAPA1	OMIM:618797
HP:0000574	Thick eyebrow	81887	LAS1L	ORPHA:3459
HP:0000574	Thick eyebrow	81887	LAS1L	OMIM:309585
HP:0000574	Thick eyebrow	55869	HDAC8	ORPHA:3459
HP:0000574	Thick eyebrow	55869	HDAC8	ORPHA:199
HP:0000574	Thick eyebrow	6605	SMARCE1	OMIM:616938
HP:0000574	Thick eyebrow	6605	SMARCE1	ORPHA:1465
HP:0000574	Thick eyebrow	668	FOXL2	ORPHA:572333
HP:0000574	Thick eyebrow	55691	FRMD4A	OMIM:616819
HP:0000574	Thick eyebrow	55691	FRMD4A	ORPHA:466688
HP:0000574	Thick eyebrow	4208	MEF2C	ORPHA:228384
HP:0000574	Thick eyebrow	8242	KDM5C	OMIM:300534
HP:0000574	Thick eyebrow	23162	MAPK8IP3	OMIM:618443
HP:0000574	Thick eyebrow	7355	SLC35A2	OMIM:300896
HP:0000574	Thick eyebrow	54941	RNF125	OMIM:616260
HP:0000574	Thick eyebrow	5077	PAX3	OMIM:193500
HP:0000574	Thick eyebrow	5077	PAX3	ORPHA:896
HP:0000574	Thick eyebrow	5077	PAX3	ORPHA:894
HP:0000574	Thick eyebrow	57479	PRR12	OMIM:619539
HP:0000574	Thick eyebrow	79718	TBL1XR1	OMIM:616944
HP:0000574	Thick eyebrow	51322	WAC	OMIM:616708
HP:0000574	Thick eyebrow	51322	WAC	ORPHA:466950
HP:0000574	Thick eyebrow	79791	FBXO31	OMIM:615979
HP:0000574	Thick eyebrow	85440	DOCK7	OMIM:615859
HP:0000574	Thick eyebrow	85440	DOCK7	ORPHA:411986
HP:0000574	Thick eyebrow	84295	PHF6	ORPHA:127
HP:0000574	Thick eyebrow	1387	CREBBP	OMIM:618332
HP:0000574	Thick eyebrow	1387	CREBBP	OMIM:180849
HP:0000574	Thick eyebrow	29123	ANKRD11	OMIM:148050
HP:0000574	Thick eyebrow	29123	ANKRD11	ORPHA:2332
HP:0000574	Thick eyebrow	8621	CDK13	OMIM:617360
HP:0000574	Thick eyebrow	2033	EP300	OMIM:613684
HP:0000574	Thick eyebrow	2033	EP300	OMIM:180849
HP:0000574	Thick eyebrow	6878	TAF6	OMIM:617126
HP:0000574	Thick eyebrow	1642	DDB1	OMIM:619426
HP:0000574	Thick eyebrow	3720	JARID2	OMIM:620098
HP:0000574	Thick eyebrow	11160	ERLIN2	ORPHA:280384
HP:0000574	Thick eyebrow	11160	ERLIN2	ORPHA:209951
HP:0000574	Thick eyebrow	5979	RET	OMIM:162300
HP:0000574	Thick eyebrow	23013	SPEN	OMIM:619312
HP:0000574	Thick eyebrow	6885	MAP3K7	OMIM:617137
HP:0000574	Thick eyebrow	85358	SHANK3	OMIM:606232
HP:0000574	Thick eyebrow	85358	SHANK3	ORPHA:48652
HP:0000574	Thick eyebrow	29998	BICRA	OMIM:619325
HP:0000574	Thick eyebrow	57520	HECW2	OMIM:617268
HP:0000574	Thick eyebrow	6492	SIM1	ORPHA:171829
HP:0000574	Thick eyebrow	9126	SMC3	OMIM:610759
HP:0000574	Thick eyebrow	9126	SMC3	ORPHA:199
HP:0000574	Thick eyebrow	55777	MBD5	OMIM:156200
HP:0000574	Thick eyebrow	4784	NFIX	OMIM:602535
HP:0000574	Thick eyebrow	10588	MTHFS	OMIM:618367
HP:0000574	Thick eyebrow	23221	RHOBTB2	OMIM:618004
HP:0000574	Thick eyebrow	4125	MAN2B1	OMIM:248500
HP:0000574	Thick eyebrow	6601	SMARCC2	OMIM:618362
HP:0000574	Thick eyebrow	6601	SMARCC2	ORPHA:1465
HP:0000574	Thick eyebrow	6659	SOX4	ORPHA:1465
HP:0000574	Thick eyebrow	5977	DPF2	ORPHA:1465
HP:0000574	Thick eyebrow	5977	DPF2	OMIM:618027
HP:0000574	Thick eyebrow	6602	SMARCD1	ORPHA:1465
HP:0000574	Thick eyebrow	196528	ARID2	ORPHA:1465
HP:0000574	Thick eyebrow	6664	SOX11	ORPHA:1465
HP:0000574	Thick eyebrow	22827	PUF60	ORPHA:508488
HP:0000574	Thick eyebrow	23258	DENND5A	OMIM:617281
HP:0000574	Thick eyebrow	8091	HMGA2	ORPHA:94063
HP:0000574	Thick eyebrow	23592	LEMD3	ORPHA:94063
HP:0000574	Thick eyebrow	1105	CHD1	ORPHA:529965
HP:0000574	Thick eyebrow	5718	PSMD12	ORPHA:529962
HP:0000574	Thick eyebrow	2186	BPTF	ORPHA:529962
HP:0000574	Thick eyebrow	6304	SATB1	OMIM:619229
HP:0000574	Thick eyebrow	54551	MAGEL2	OMIM:615547
HP:0000574	Thick eyebrow	158326	FREM1	OMIM:608980
HP:0000574	Thick eyebrow	23476	BRD4	ORPHA:199
HP:0000574	Thick eyebrow	25836	NIPBL	ORPHA:199
HP:0000574	Thick eyebrow	50801	KCNK4	OMIM:618381
HP:0000574	Thick eyebrow	10664	CTCF	ORPHA:363611
HP:0000574	Thick eyebrow	6711	SPTBN1	OMIM:619475
HP:0000574	Thick eyebrow	10815	CPLX1	OMIM:617976
HP:0000574	Thick eyebrow	2517	FUCA1	OMIM:230000
HP:0000574	Thick eyebrow	54361	WNT4	ORPHA:247768
HP:0000574	Thick eyebrow	50937	CDON	OMIM:614226
HP:0000574	Thick eyebrow	3425	IDUA	ORPHA:93473
HP:0000574	Thick eyebrow	2131	EXT1	ORPHA:502
HP:0000574	Thick eyebrow	7227	TRPS1	ORPHA:502
HP:0000574	Thick eyebrow	7204	TRIO	OMIM:617061
HP:0000574	Thick eyebrow	54880	BCOR	OMIM:300166
HP:0000574	Thick eyebrow	55617	TASP1	OMIM:618950
HP:0000574	Thick eyebrow	23067	SETD1B	OMIM:619000
HP:0000574	Thick eyebrow	114928	GPRASP2	OMIM:301018
HP:0000574	Thick eyebrow	57688	ZSWIM6	OMIM:617865
HP:0000574	Thick eyebrow	2799	GNS	OMIM:252940
HP:0000574	Thick eyebrow	2273	FHL1	OMIM:300280
HP:0000574	Thick eyebrow	8241	RBM10	ORPHA:2886
HP:0000574	Thick eyebrow	54888	NSUN2	OMIM:611091
HP:0000574	Thick eyebrow	55023	PHIP	OMIM:617991
HP:0000574	Thick eyebrow	2990	GUSB	OMIM:253220
HP:0000574	Thick eyebrow	51594	NBAS	OMIM:614800
HP:0000574	Thick eyebrow	4848	CNOT2	OMIM:618608
HP:0000574	Thick eyebrow	9469	CHST3	OMIM:245600
HP:0000574	Thick eyebrow	26229	B3GAT3	OMIM:245600
HP:0000574	Thick eyebrow	129285	PPP1R21	OMIM:619383
HP:0000574	Thick eyebrow	55553	SOX6	OMIM:618971
HP:0000574	Thick eyebrow	55331	ACER3	OMIM:617762
HP:0000574	Thick eyebrow	8626	TP63	ORPHA:1896
HP:0000574	Thick eyebrow	10844	TUBGCP2	OMIM:618737
HP:0000574	Thick eyebrow	58508	KMT2C	OMIM:617768
HP:0000574	Thick eyebrow	3480	IGF1R	OMIM:270450
HP:0004552	Scarring alopecia of scalp	10804	GJB6	ORPHA:477
HP:0004552	Scarring alopecia of scalp	2706	GJB2	ORPHA:477
HP:0004552	Scarring alopecia of scalp	2706	GJB2	OMIM:602540
HP:0004552	Scarring alopecia of scalp	51360	MBTPS2	OMIM:308800
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	OMIM:619787
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	ORPHA:251393
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	5339	PLEC	OMIM:226670
HP:0004552	Scarring alopecia of scalp	5339	PLEC	ORPHA:158684
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:158684
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:251393
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	10682	EBP	ORPHA:35173
HP:0004552	Scarring alopecia of scalp	126695	KDF1	OMIM:617337
HP:0004552	Scarring alopecia of scalp	387	RHOA	OMIM:618727
HP:0004552	Scarring alopecia of scalp	9076	CLDN1	ORPHA:59303
HP:0004552	Scarring alopecia of scalp	7390	UROS	ORPHA:79277
HP:0004552	Scarring alopecia of scalp	2623	GATA1	ORPHA:79277
HP:0004552	Scarring alopecia of scalp	7389	UROD	ORPHA:95159
HP:0004552	Scarring alopecia of scalp	3909	LAMA3	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	3918	LAMC2	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	3914	LAMB3	ORPHA:79402
HP:0004557	Anterior vertebral fusion	1280	COL2A1	ORPHA:485
HP:0030402	Abnormal platelet aggregation	861	RUNX1	OMIM:601399
HP:0030402	Abnormal platelet aggregation	3674	ITGA2B	OMIM:187800
HP:0030402	Abnormal platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0030402	Abnormal platelet aggregation	4247	MGAT2	ORPHA:79329
HP:0030402	Abnormal platelet aggregation	7450	VWF	OMIM:193400
HP:0030402	Abnormal platelet aggregation	7450	VWF	OMIM:277480
HP:0030402	Abnormal platelet aggregation	84343	HPS3	OMIM:614072
HP:0030402	Abnormal platelet aggregation	388552	BLOC1S3	OMIM:614077
HP:0030402	Abnormal platelet aggregation	5321	PLA2G4A	OMIM:618372
HP:0030402	Abnormal platelet aggregation	3758	KCNJ1	OMIM:241200
HP:0030402	Abnormal platelet aggregation	2623	GATA1	OMIM:300835
HP:0030402	Abnormal platelet aggregation	2313	FLI1	OMIM:617443
HP:0030402	Abnormal platelet aggregation	2048	EPHB2	OMIM:618462
HP:0030402	Abnormal platelet aggregation	84062	DTNBP1	OMIM:614076
HP:0030402	Abnormal platelet aggregation	81027	TUBB1	OMIM:613112
HP:0030402	Abnormal platelet aggregation	1729	DIAPH1	OMIM:124900
HP:0030402	Abnormal platelet aggregation	64241	ABCG8	OMIM:210250
HP:0030402	Abnormal platelet aggregation	11234	HPS5	OMIM:614074
HP:0030402	Abnormal platelet aggregation	87	ACTN1	OMIM:615193
HP:0030402	Abnormal platelet aggregation	79803	HPS6	OMIM:614075
HP:0030402	Abnormal platelet aggregation	64805	P2RY12	OMIM:609821
HP:0030402	Abnormal platelet aggregation	8546	AP3B1	OMIM:608233
HP:0030402	Abnormal platelet aggregation	5328	PLAU	OMIM:601709
HP:0030402	Abnormal platelet aggregation	4627	MYH9	OMIM:155100
HP:0030402	Abnormal platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0030402	Abnormal platelet aggregation	63915	BLOC1S5	OMIM:619172
HP:0030402	Abnormal platelet aggregation	10019	SH2B3	OMIM:187950
HP:0030402	Abnormal platelet aggregation	811	CALR	OMIM:187950
HP:0030402	Abnormal platelet aggregation	7066	THPO	OMIM:187950
HP:0030402	Abnormal platelet aggregation	493856	CISD2	OMIM:604928
HP:0030402	Abnormal platelet aggregation	3937	LCP2	OMIM:619374
HP:0030402	Abnormal platelet aggregation	8328	GFI1B	OMIM:187900
HP:0030402	Abnormal platelet aggregation	64376	IKZF5	OMIM:619130
HP:0030402	Abnormal platelet aggregation	2815	GP9	OMIM:231200
HP:0030402	Abnormal platelet aggregation	2815	GP9	ORPHA:274
HP:0030402	Abnormal platelet aggregation	2812	GP1BB	OMIM:231200
HP:0030402	Abnormal platelet aggregation	2812	GP1BB	ORPHA:274
HP:0030402	Abnormal platelet aggregation	51206	GP6	OMIM:614201
HP:0030402	Abnormal platelet aggregation	3690	ITGB3	ORPHA:849
HP:0030402	Abnormal platelet aggregation	23218	NBEAL2	OMIM:139090
HP:0030402	Abnormal platelet aggregation	6915	TBXA2R	OMIM:614009
HP:0030402	Abnormal platelet aggregation	26258	BLOC1S6	OMIM:614171
HP:0030402	Abnormal platelet aggregation	2982	GUCY1A1	ORPHA:401945
HP:0030402	Abnormal platelet aggregation	2811	GP1BA	OMIM:153670
HP:0030409	Renal transitional cell carcinoma	3265	HRAS	ORPHA:2874
HP:0030406	Primary peritoneal carcinoma	672	BRCA1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	7157	TP53	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5892	RAD51D	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	675	BRCA2	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5728	PTEN	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	10111	RAD50	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	580	BARD1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5888	RAD51	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	4683	NBN	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5889	RAD51C	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	83990	BRIP1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	4361	MRE11	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	79728	PALB2	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	11200	CHEK2	ORPHA:145
HP:0030405	Pancreatic endocrine tumor	389692	MAFA	OMIM:147630
HP:0030405	Pancreatic endocrine tumor	3767	KCNJ11	ORPHA:79644
HP:0030405	Pancreatic endocrine tumor	7428	VHL	ORPHA:892
HP:0030405	Pancreatic endocrine tumor	595	CCND1	ORPHA:892
HP:0030405	Pancreatic endocrine tumor	4221	MEN1	OMIM:131100
HP:0030405	Pancreatic endocrine tumor	1027	CDKN1B	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1027	CDKN1B	ORPHA:276152
HP:0030405	Pancreatic endocrine tumor	1026	CDKN1A	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1030	CDKN2B	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1031	CDKN2C	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	2642	GCGR	ORPHA:438274
HP:0030405	Pancreatic endocrine tumor	3458	IFNG	ORPHA:805
HP:0030405	Pancreatic endocrine tumor	7248	TSC1	ORPHA:805
HP:0030405	Pancreatic endocrine tumor	7249	TSC2	ORPHA:805
HP:0030404	Glucagonoma	4221	MEN1	ORPHA:652
HP:0030404	Glucagonoma	4221	MEN1	OMIM:131100
HP:0030404	Glucagonoma	1027	CDKN1B	ORPHA:652
HP:0030404	Glucagonoma	1026	CDKN1A	ORPHA:652
HP:0030404	Glucagonoma	1030	CDKN2B	ORPHA:652
HP:0030404	Glucagonoma	1031	CDKN2C	ORPHA:652
HP:0030404	Glucagonoma	2642	GCGR	ORPHA:438274
HP:0030410	Sebaceous gland carcinoma	4292	MLH1	OMIM:158320
HP:0030410	Sebaceous gland carcinoma	4436	MSH2	OMIM:158320
HP:0004562	Beaking of vertebral bodies T12-L3	2720	GLB1	ORPHA:79255
HP:0004562	Beaking of vertebral bodies T12-L3	79158	GNPTAB	OMIM:252500
HP:0004562	Beaking of vertebral bodies T12-L3	4763	NF1	ORPHA:97685
HP:0004563	Increased spinal bone density	7415	VCP	ORPHA:329475
HP:0004565	Severe platyspondyly	2137	EXTL3	ORPHA:508533
HP:0004565	Severe platyspondyly	51025	PAM16	OMIM:613320
HP:0004565	Severe platyspondyly	2261	FGFR3	OMIM:187600
HP:0004565	Severe platyspondyly	2261	FGFR3	OMIM:100800
HP:0004565	Severe platyspondyly	3636	INPPL1	OMIM:258480
HP:0004565	Severe platyspondyly	5130	PCYT1A	OMIM:608940
HP:0004565	Severe platyspondyly	4041	LRP5	OMIM:259770
HP:0004565	Severe platyspondyly	1280	COL2A1	OMIM:151210
HP:0004566	Pear-shaped vertebrae	4322	MMP13	OMIM:602111
HP:0004566	Pear-shaped vertebrae	4322	MMP13	ORPHA:93356
HP:0030413	Squamous cell carcinoma of the tongue	4194	MDM4	OMIM:618849
HP:0030413	Squamous cell carcinoma of the tongue	55135	WRAP53	OMIM:613988
HP:0030417	Squamous cell carcinoma of the vulva	81704	DOCK8	ORPHA:217390
HP:0030416	Vulvar neoplasm	1288	COL4A6	ORPHA:1018
HP:0030416	Vulvar neoplasm	1287	COL4A5	ORPHA:1018
HP:0030416	Vulvar neoplasm	81704	DOCK8	ORPHA:217390
HP:0020200	Increased circulating 18-hydroxycortisone level	1585	CYP11B2	OMIM:610600
HP:0020201	Abnormal sarcomere morphology	88	ACTN2	OMIM:618654
HP:0020201	Abnormal sarcomere morphology	8087	FXR1	OMIM:618823
HP:0020201	Abnormal sarcomere morphology	1674	DES	OMIM:181400
HP:0020201	Abnormal sarcomere morphology	7138	TNNT1	OMIM:605355
HP:0020201	Abnormal sarcomere morphology	339855	KY	OMIM:617114
HP:0020201	Abnormal sarcomere morphology	146862	UNC45B	OMIM:619178
HP:0020201	Abnormal sarcomere morphology	3908	LAMA2	OMIM:618138
HP:0020201	Abnormal sarcomere morphology	6261	RYR1	ORPHA:98905
HP:0020201	Abnormal sarcomere morphology	6261	RYR1	ORPHA:324581
HP:0020201	Abnormal sarcomere morphology	7273	TTN	ORPHA:178464
HP:0020201	Abnormal sarcomere morphology	8878	SQSTM1	OMIM:617158
HP:0020201	Abnormal sarcomere morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0020201	Abnormal sarcomere morphology	203859	ANO5	ORPHA:206549
HP:0020201	Abnormal sarcomere morphology	442721	LMOD2	OMIM:619897
HP:0020202	Abnormal Z disc morphology	88	ACTN2	OMIM:618654
HP:0020202	Abnormal Z disc morphology	8087	FXR1	OMIM:618823
HP:0020202	Abnormal Z disc morphology	1674	DES	OMIM:181400
HP:0020202	Abnormal Z disc morphology	7138	TNNT1	OMIM:605355
HP:0020202	Abnormal Z disc morphology	339855	KY	OMIM:617114
HP:0020202	Abnormal Z disc morphology	8878	SQSTM1	OMIM:617158
HP:0020202	Abnormal Z disc morphology	146862	UNC45B	OMIM:619178
HP:0020202	Abnormal Z disc morphology	442721	LMOD2	OMIM:619897
HP:0020203	Z-band streaming	88	ACTN2	OMIM:618655
HP:0020203	Z-band streaming	8087	FXR1	OMIM:618823
HP:0020203	Z-band streaming	1674	DES	OMIM:181400
HP:0020203	Z-band streaming	7138	TNNT1	OMIM:605355
HP:0020203	Z-band streaming	339855	KY	OMIM:617114
HP:0020203	Z-band streaming	8878	SQSTM1	OMIM:617158
HP:0020203	Z-band streaming	146862	UNC45B	OMIM:619178
HP:0020206	Simple ear	285590	SH3PXD2B	OMIM:249420
HP:0020206	Simple ear	5447	POR	OMIM:201750
HP:0020206	Simple ear	57003	CCDC47	OMIM:618268
HP:0020206	Simple ear	29998	BICRA	OMIM:619325
HP:0020206	Simple ear	6603	SMARCD2	OMIM:617475
HP:0020206	Simple ear	2702	GJA5	OMIM:612474
HP:0020206	Simple ear	2703	GJA8	OMIM:612474
HP:0020206	Simple ear	1387	CREBBP	OMIM:180849
HP:0020206	Simple ear	2033	EP300	OMIM:180849
HP:0020206	Simple ear	23426	GRIP1	OMIM:617667
HP:0020206	Simple ear	7528	YY1	OMIM:617557
HP:0020206	Simple ear	54187	NANS	OMIM:610442
HP:0020206	Simple ear	57539	WDR35	OMIM:613610
HP:0020206	Simple ear	1642	DDB1	OMIM:619426
HP:0020206	Simple ear	8449	DHX16	OMIM:618733
HP:0020206	Simple ear	55770	EXOC2	OMIM:619306
HP:0020206	Simple ear	6650	CAPN15	OMIM:619318
HP:0020206	Simple ear	9968	MED12	OMIM:305450
HP:0020206	Simple ear	84081	NSRP1	OMIM:620001
HP:0020206	Simple ear	145258	GSC	OMIM:602471
HP:0020207	Reflex seizure	154881	KCTD7	ORPHA:263516
HP:0020207	Reflex seizure	6335	SCN9A	ORPHA:33069
HP:0020207	Reflex seizure	6326	SCN2A	ORPHA:33069
HP:0020207	Reflex seizure	2554	GABRA1	ORPHA:33069
HP:0020207	Reflex seizure	6323	SCN1A	ORPHA:33069
HP:0020207	Reflex seizure	6324	SCN1B	ORPHA:33069
HP:0020207	Reflex seizure	57526	PCDH19	ORPHA:33069
HP:0020207	Reflex seizure	2566	GABRG2	ORPHA:33069
HP:0020207	Reflex seizure	10479	SLC9A6	OMIM:300243
HP:0020207	Reflex seizure	114327	EFHC1	ORPHA:307
HP:0020207	Reflex seizure	2563	GABRD	ORPHA:307
HP:0020207	Reflex seizure	1181	CLCN2	ORPHA:307
HP:0020207	Reflex seizure	3786	KCNQ3	ORPHA:307
HP:0020207	Reflex seizure	22858	CILK1	ORPHA:307
HP:0020207	Reflex seizure	8629	JRK	ORPHA:307
HP:0020207	Reflex seizure	785	CACNB4	ORPHA:307
HP:0020207	Reflex seizure	8831	SYNGAP1	ORPHA:544254
HP:0020207	Reflex seizure	347733	TUBB2B	ORPHA:467166
HP:0020207	Reflex seizure	7846	TUBA1A	ORPHA:467166
HP:0020207	Reflex seizure	10381	TUBB3	ORPHA:467166
HP:0020207	Reflex seizure	1106	CHD2	OMIM:615369
HP:0020207	Reflex seizure	57094	CPA6	OMIM:614417
HP:0020208	Eating-induced seizure	8831	SYNGAP1	ORPHA:544254
HP:0004571	Widening of cervical spinal canal	2733	GLE1	OMIM:253310
HP:0004573	Anterior wedging of T11	2535	FZD2	OMIM:164745
HP:0004573	Anterior wedging of T11	633	BGN	OMIM:300106
HP:0004576	Sclerotic vertebral endplates	50964	SOST	OMIM:269500
HP:0004576	Sclerotic vertebral endplates	1758	DMP1	ORPHA:289176
HP:0004576	Sclerotic vertebral endplates	5167	ENPP1	ORPHA:289176
HP:0004576	Sclerotic vertebral endplates	1186	CLCN7	OMIM:611490
HP:0004576	Sclerotic vertebral endplates	8838	CCN6	OMIM:208230
HP:0004576	Sclerotic vertebral endplates	79705	LRRK1	OMIM:615198
HP:0030424	Epididymal cyst	7428	VHL	ORPHA:892
HP:0030424	Epididymal cyst	7428	VHL	OMIM:193300
HP:0030424	Epididymal cyst	595	CCND1	ORPHA:892
HP:0030424	Epididymal cyst	595	CCND1	OMIM:193300
HP:0030424	Epididymal cyst	10847	SRCAP	ORPHA:2044
HP:0030424	Epididymal cyst	10847	SRCAP	OMIM:136140
HP:0030424	Epididymal cyst	6928	HNF1B	OMIM:137920
HP:0030423	Splenic cyst	169792	GLIS3	OMIM:610199
HP:0030423	Splenic cyst	55503	TRPV6	OMIM:618188
HP:0030421	Epididymal neoplasm	1387	CREBBP	OMIM:180849
HP:0030421	Epididymal neoplasm	2033	EP300	OMIM:180849
HP:0030421	Epididymal neoplasm	7428	VHL	ORPHA:892
HP:0030421	Epididymal neoplasm	7428	VHL	OMIM:193300
HP:0030421	Epididymal neoplasm	595	CCND1	ORPHA:892
HP:0030421	Epididymal neoplasm	595	CCND1	OMIM:193300
HP:0030421	Epididymal neoplasm	6928	HNF1B	ORPHA:93111
HP:0030428	Cutaneous myxoma	2778	GNAS	ORPHA:562
HP:0030428	Cutaneous myxoma	5566	PRKACA	ORPHA:189439
HP:0030428	Cutaneous myxoma	8622	PDE8B	ORPHA:189439
HP:0030428	Cutaneous myxoma	5573	PRKAR1A	ORPHA:189439
HP:0030428	Cutaneous myxoma	5573	PRKAR1A	ORPHA:1359
HP:0030428	Cutaneous myxoma	50940	PDE11A	ORPHA:189439
HP:0030428	Cutaneous myxoma	50940	PDE11A	ORPHA:1359
HP:0030427	Ossifying fibroma of the jaw	89970	RSPRY1	ORPHA:457395
HP:0030426	Ossifying fibroma	4763	NF1	ORPHA:363700
HP:0030426	Ossifying fibroma	89970	RSPRY1	ORPHA:457395
HP:0020214	Startle-induced seizure	347733	TUBB2B	ORPHA:467166
HP:0020214	Startle-induced seizure	7846	TUBA1A	ORPHA:467166
HP:0020214	Startle-induced seizure	10381	TUBB3	ORPHA:467166
HP:0020216	Visually-induced seizure	154881	KCTD7	ORPHA:263516
HP:0020216	Visually-induced seizure	6335	SCN9A	ORPHA:33069
HP:0020216	Visually-induced seizure	6326	SCN2A	ORPHA:33069
HP:0020216	Visually-induced seizure	2554	GABRA1	ORPHA:33069
HP:0020216	Visually-induced seizure	6323	SCN1A	ORPHA:33069
HP:0020216	Visually-induced seizure	6324	SCN1B	ORPHA:33069
HP:0020216	Visually-induced seizure	57526	PCDH19	ORPHA:33069
HP:0020216	Visually-induced seizure	2566	GABRG2	ORPHA:33069
HP:0020216	Visually-induced seizure	10479	SLC9A6	OMIM:300243
HP:0020216	Visually-induced seizure	114327	EFHC1	ORPHA:307
HP:0020216	Visually-induced seizure	2563	GABRD	ORPHA:307
HP:0020216	Visually-induced seizure	1181	CLCN2	ORPHA:307
HP:0020216	Visually-induced seizure	3786	KCNQ3	ORPHA:307
HP:0020216	Visually-induced seizure	22858	CILK1	ORPHA:307
HP:0020216	Visually-induced seizure	8629	JRK	ORPHA:307
HP:0020216	Visually-induced seizure	785	CACNB4	ORPHA:307
HP:0020216	Visually-induced seizure	1106	CHD2	OMIM:615369
HP:0020216	Visually-induced seizure	57094	CPA6	OMIM:614417
HP:0020217	Focal aware motor seizure	501	ALDH7A1	ORPHA:3006
HP:0020217	Focal aware motor seizure	11212	PLPBP	ORPHA:3006
HP:0020219	Motor seizure	154881	KCTD7	ORPHA:263516
HP:0020219	Motor seizure	6335	SCN9A	ORPHA:33069
HP:0020219	Motor seizure	2554	GABRA1	ORPHA:33069
HP:0020219	Motor seizure	6323	SCN1A	ORPHA:33069
HP:0020219	Motor seizure	57526	PCDH19	ORPHA:33069
HP:0020219	Motor seizure	401474	SAMD12	OMIM:601068
HP:0020219	Motor seizure	4558	MT-TF	ORPHA:551
HP:0020219	Motor seizure	4558	MT-TF	OMIM:545000
HP:0020219	Motor seizure	4549	MT-RNR1	ORPHA:551
HP:0020219	Motor seizure	4574	MT-TS1	ORPHA:551
HP:0020219	Motor seizure	4575	MT-TS2	ORPHA:551
HP:0020219	Motor seizure	4571	MT-TP	ORPHA:551
HP:0020219	Motor seizure	4571	MT-TP	OMIM:545000
HP:0020219	Motor seizure	4572	MT-TQ	ORPHA:551
HP:0020219	Motor seizure	4564	MT-TH	ORPHA:551
HP:0020219	Motor seizure	10059	DNM1L	ORPHA:330050
HP:0020219	Motor seizure	7915	ALDH5A1	ORPHA:22
HP:0020219	Motor seizure	7915	ALDH5A1	OMIM:271980
HP:0020219	Motor seizure	4524	MTHFR	ORPHA:395
HP:0020219	Motor seizure	57468	SLC12A5	OMIM:616685
HP:0020219	Motor seizure	1859	DYRK1A	ORPHA:268261
HP:0020219	Motor seizure	8818	DPM2	ORPHA:329178
HP:0020219	Motor seizure	2720	GLB1	OMIM:230600
HP:0020219	Motor seizure	2896	GRN	OMIM:614706
HP:0020219	Motor seizure	4758	NEU1	ORPHA:93399
HP:0020219	Motor seizure	64324	NSD1	ORPHA:821
HP:0020219	Motor seizure	29072	SETD2	ORPHA:821
HP:0020219	Motor seizure	57465	TBC1D24	OMIM:605021
HP:0020219	Motor seizure	57465	TBC1D24	ORPHA:352596
HP:0020219	Motor seizure	57465	TBC1D24	ORPHA:352582
HP:0020219	Motor seizure	2593	GAMT	ORPHA:382
HP:0020219	Motor seizure	79587	CARS2	ORPHA:477774
HP:0020219	Motor seizure	54820	NDE1	OMIM:605013
HP:0020219	Motor seizure	3767	KCNJ11	ORPHA:99885
HP:0020219	Motor seizure	6774	STAT3	ORPHA:99885
HP:0020219	Motor seizure	2645	GCK	ORPHA:99885
HP:0020219	Motor seizure	3651	PDX1	ORPHA:99885
HP:0020219	Motor seizure	6833	ABCC8	ORPHA:99885
HP:0020219	Motor seizure	3630	INS	ORPHA:99885
HP:0020219	Motor seizure	10166	SLC25A15	ORPHA:415
HP:0020219	Motor seizure	10166	SLC25A15	OMIM:238970
HP:0020219	Motor seizure	4694	NDUFA1	OMIM:301020
HP:0020219	Motor seizure	116150	NUS1	OMIM:617831
HP:0020219	Motor seizure	79947	DHDDS	OMIM:617836
HP:0020219	Motor seizure	10939	AFG3L2	ORPHA:313772
HP:0020219	Motor seizure	10939	AFG3L2	OMIM:614487
HP:0020219	Motor seizure	57531	HACE1	ORPHA:464282
HP:0020219	Motor seizure	57531	HACE1	OMIM:616756
HP:0020219	Motor seizure	80856	LNPK	OMIM:618090
HP:0020219	Motor seizure	51651	PTRH2	ORPHA:456312
HP:0020219	Motor seizure	5602	MAPK10	ORPHA:2382
HP:0020219	Motor seizure	773	CACNA1A	ORPHA:2382
HP:0020219	Motor seizure	23316	CUX2	ORPHA:2382
HP:0020219	Motor seizure	23316	CUX2	OMIM:618141
HP:0020219	Motor seizure	4565	MT-TI	OMIM:545000
HP:0020219	Motor seizure	83696	TRAPPC9	ORPHA:352530
HP:0020219	Motor seizure	6785	ELOVL4	OMIM:614457
HP:0020219	Motor seizure	144165	PRICKLE1	OMIM:612437
HP:0020219	Motor seizure	112755	STX1B	ORPHA:36387
HP:0020219	Motor seizure	348980	HCN1	ORPHA:36387
HP:0020219	Motor seizure	84059	ADGRV1	ORPHA:36387
HP:0020219	Motor seizure	2629	GBA1	OMIM:231000
HP:0020219	Motor seizure	2629	GBA1	ORPHA:2072
HP:0020219	Motor seizure	2629	GBA1	ORPHA:77261
HP:0020219	Motor seizure	2629	GBA1	ORPHA:77260
HP:0020219	Motor seizure	6611	SMS	ORPHA:3063
HP:0020219	Motor seizure	57061	HYMAI	ORPHA:96191
HP:0020219	Motor seizure	5325	PLAGL1	ORPHA:96191
HP:0020219	Motor seizure	56978	PRDM8	OMIM:616640
HP:0020219	Motor seizure	51604	PIGT	ORPHA:369837
HP:0020219	Motor seizure	4983	OPHN1	ORPHA:137831
HP:0020219	Motor seizure	378884	NHLRC1	ORPHA:501
HP:0020219	Motor seizure	378884	NHLRC1	OMIM:254780
HP:0020219	Motor seizure	7957	EPM2A	ORPHA:501
HP:0020219	Motor seizure	7957	EPM2A	OMIM:254780
HP:0020219	Motor seizure	5293	PIK3CD	ORPHA:221139
HP:0020219	Motor seizure	5293	PIK3CD	OMIM:613328
HP:0020219	Motor seizure	90417	KNSTRN	ORPHA:221139
HP:0020219	Motor seizure	90417	KNSTRN	OMIM:613328
HP:0020219	Motor seizure	5728	PTEN	ORPHA:101070
HP:0020219	Motor seizure	51124	IER3IP1	OMIM:614231
HP:0020219	Motor seizure	10991	SLC38A3	OMIM:619881
HP:0020219	Motor seizure	79143	MBOAT7	OMIM:617188
HP:0020219	Motor seizure	256471	MFSD8	OMIM:610951
HP:0020219	Motor seizure	54802	TRIT1	OMIM:617873
HP:0020219	Motor seizure	84823	LMNB2	OMIM:616540
HP:0020219	Motor seizure	6389	SDHA	ORPHA:3208
HP:0020219	Motor seizure	6390	SDHB	ORPHA:3208
HP:0020219	Motor seizure	6392	SDHD	ORPHA:3208
HP:0020219	Motor seizure	644096	SDHAF1	ORPHA:3208
HP:0020219	Motor seizure	2055	CLN8	ORPHA:1947
HP:0020219	Motor seizure	2581	GALC	ORPHA:206436
HP:0020219	Motor seizure	5660	PSAP	ORPHA:206436
HP:0020219	Motor seizure	8813	DPM1	ORPHA:79322
HP:0020219	Motor seizure	701	BUB1B	OMIM:257300
HP:0020219	Motor seizure	10243	GPHN	OMIM:615501
HP:0020219	Motor seizure	221927	BRAT1	OMIM:614498
HP:0020219	Motor seizure	50801	KCNK4	OMIM:618381
HP:0020219	Motor seizure	8504	PEX3	OMIM:617370
HP:0020219	Motor seizure	5649	RELN	OMIM:600512
HP:0020219	Motor seizure	64780	MICAL1	OMIM:600512
HP:0020219	Motor seizure	9211	LGI1	OMIM:600512
HP:0020219	Motor seizure	3785	KCNQ2	ORPHA:1949
HP:0020219	Motor seizure	3785	KCNQ2	ORPHA:306
HP:0020219	Motor seizure	3785	KCNQ2	OMIM:121200
HP:0020219	Motor seizure	3786	KCNQ3	ORPHA:1949
HP:0020219	Motor seizure	3786	KCNQ3	ORPHA:306
HP:0020219	Motor seizure	3786	KCNQ3	OMIM:121201
HP:0020219	Motor seizure	23312	DMXL2	OMIM:618663
HP:0020219	Motor seizure	132158	GLYCTK	OMIM:220120
HP:0020219	Motor seizure	23241	PACS2	OMIM:618067
HP:0020219	Motor seizure	6487	ST3GAL3	OMIM:615006
HP:0020219	Motor seizure	51294	PCDH12	OMIM:251280
HP:0020219	Motor seizure	53616	ADAM22	OMIM:617933
HP:0020219	Motor seizure	55325	UFSP2	OMIM:620028
HP:0020219	Motor seizure	23732	FRRS1L	ORPHA:725
HP:0020219	Motor seizure	2903	GRIN2A	ORPHA:725
HP:0020219	Motor seizure	6334	SCN8A	ORPHA:306
HP:0020219	Motor seizure	6326	SCN2A	ORPHA:306
HP:0020219	Motor seizure	112476	PRRT2	ORPHA:306
HP:0020219	Motor seizure	9568	GABBR2	OMIM:617904
HP:0020219	Motor seizure	284058	KANSL1	ORPHA:363965
HP:0020219	Motor seizure	284058	KANSL1	ORPHA:363958
HP:0020219	Motor seizure	50485	SMARCAL1	ORPHA:1830
HP:0020219	Motor seizure	10479	SLC9A6	OMIM:300243
HP:0020219	Motor seizure	114327	EFHC1	ORPHA:307
HP:0020219	Motor seizure	2563	GABRD	ORPHA:307
HP:0020219	Motor seizure	1181	CLCN2	ORPHA:307
HP:0020219	Motor seizure	22858	CILK1	ORPHA:307
HP:0020219	Motor seizure	8629	JRK	ORPHA:307
HP:0020219	Motor seizure	785	CACNB4	ORPHA:307
HP:0020219	Motor seizure	25977	NECAP1	OMIM:615833
HP:0020219	Motor seizure	6134	RPL10	ORPHA:459070
HP:0020219	Motor seizure	22796	COG2	ORPHA:435934
HP:0020219	Motor seizure	22796	COG2	OMIM:617395
HP:0020219	Motor seizure	55610	VPS50	OMIM:619685
HP:0020219	Motor seizure	56997	COQ8A	OMIM:612016
HP:0020219	Motor seizure	57582	KCNT1	OMIM:614959
HP:0020219	Motor seizure	23229	ARHGEF9	ORPHA:163985
HP:0020219	Motor seizure	340024	SLC6A19	OMIM:234500
HP:0020219	Motor seizure	3735	KARS1	OMIM:619147
HP:0020219	Motor seizure	6304	SATB1	OMIM:619229
HP:0020219	Motor seizure	610	HCN2	OMIM:602477
HP:0020219	Motor seizure	8733	GPAA1	OMIM:617810
HP:0020219	Motor seizure	8659	ALDH4A1	ORPHA:79101
HP:0020219	Motor seizure	51343	FZR1	OMIM:620145
HP:0020219	Motor seizure	10159	ATP6AP2	ORPHA:93952
HP:0020219	Motor seizure	83475	DOHH	OMIM:620066
HP:0020219	Motor seizure	1457	CSNK2A1	OMIM:617062
HP:0020219	Motor seizure	23096	IQSEC2	OMIM:309530
HP:0020219	Motor seizure	23031	MAST3	OMIM:620115
HP:0020219	Motor seizure	3192	HNRNPU	OMIM:617391
HP:0020219	Motor seizure	1351	COX8A	OMIM:619059
HP:0020219	Motor seizure	10588	MTHFS	OMIM:618367
HP:0020219	Motor seizure	54496	PRMT7	OMIM:617157
HP:0020219	Motor seizure	816	CAMK2B	OMIM:617799
HP:0020219	Motor seizure	93183	PIGM	OMIM:610293
HP:0020219	Motor seizure	2783	GNB2	OMIM:619503
HP:0020219	Motor seizure	9570	GOSR2	OMIM:614018
HP:0020219	Motor seizure	443	ASPA	OMIM:271900
HP:0020219	Motor seizure	6812	STXBP1	OMIM:612164
HP:0020219	Motor seizure	343450	KCNT2	OMIM:617771
HP:0020219	Motor seizure	10815	CPLX1	OMIM:617976
HP:0020219	Motor seizure	3747	KCNC2	OMIM:619913
HP:0020219	Motor seizure	92609	TIMM50	OMIM:617698
HP:0020219	Motor seizure	116115	ZNF526	OMIM:619877
HP:0020219	Motor seizure	538	ATP7A	OMIM:309400
HP:0020219	Motor seizure	4191	MDH2	OMIM:617339
HP:0020219	Motor seizure	79813	EHMT1	ORPHA:96147
HP:0020219	Motor seizure	8496	PPFIBP1	OMIM:620024
HP:0020219	Motor seizure	6595	SMARCA2	ORPHA:3051
HP:0020219	Motor seizure	51112	TRAPPC12	ORPHA:500144
HP:0020219	Motor seizure	51112	TRAPPC12	OMIM:617669
HP:0020219	Motor seizure	2571	GAD1	OMIM:619124
HP:0020219	Motor seizure	8867	SYNJ1	OMIM:617389
HP:0020219	Motor seizure	10659	CELF2	OMIM:619561
HP:0020219	Motor seizure	7358	UGDH	OMIM:618792
HP:0020219	Motor seizure	56947	MFF	ORPHA:485421
HP:0020219	Motor seizure	56947	MFF	OMIM:617086
HP:0020219	Motor seizure	478	ATP1A3	OMIM:619606
HP:0020219	Motor seizure	6506	SLC1A2	OMIM:617105
HP:0020219	Motor seizure	5290	PIK3CA	ORPHA:99802
HP:0020219	Motor seizure	2475	MTOR	ORPHA:99802
HP:0020219	Motor seizure	10000	AKT3	ORPHA:99802
HP:0020219	Motor seizure	2556	GABRA3	OMIM:301091
HP:0020219	Motor seizure	6904	TBCD	OMIM:617193
HP:0020219	Motor seizure	535	ATP6V0A1	OMIM:619971
HP:0020219	Motor seizure	535	ATP6V0A1	OMIM:619970
HP:0020219	Motor seizure	23154	NCDN	OMIM:619373
HP:0020219	Motor seizure	5530	PPP3CA	OMIM:617711
HP:0020219	Motor seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0020219	Motor seizure	79718	TBL1XR1	OMIM:616944
HP:0020219	Motor seizure	6513	SLC2A1	ORPHA:1942
HP:0020219	Motor seizure	8831	SYNGAP1	ORPHA:1942
HP:0020219	Motor seizure	1173	AP2M1	ORPHA:1942
HP:0020219	Motor seizure	1106	CHD2	ORPHA:1942
HP:0020219	Motor seizure	6529	SLC6A1	ORPHA:1942
HP:0020219	Motor seizure	501	ALDH7A1	ORPHA:3006
HP:0020219	Motor seizure	11212	PLPBP	ORPHA:3006
HP:0020219	Motor seizure	2898	GRIK2	OMIM:619580
HP:0020219	Motor seizure	29968	PSAT1	ORPHA:284417
HP:0020219	Motor seizure	1327	COX4I1	OMIM:619060
HP:0020219	Motor seizure	774	CACNA1B	OMIM:618497
HP:0020219	Motor seizure	4905	NSF	OMIM:619340
HP:0020219	Motor seizure	58497	PRUNE1	ORPHA:544469
HP:0020219	Motor seizure	26227	PHGDH	ORPHA:79351
HP:0020219	Motor seizure	26040	SETBP1	ORPHA:798
HP:0020219	Motor seizure	5813	PURA	ORPHA:314655
HP:0020219	Motor seizure	1719	DHFR	OMIM:613839
HP:0020219	Motor seizure	23443	SLC35A3	OMIM:615553
HP:0020219	Motor seizure	727676	SNORD118	ORPHA:542310
HP:0020219	Motor seizure	84188	FAR1	OMIM:619338
HP:0020219	Motor seizure	4929	NR4A2	OMIM:619911
HP:0020219	Motor seizure	6507	SLC1A3	ORPHA:2131
HP:0020219	Motor seizure	25814	ATXN10	ORPHA:98761
HP:0020219	Motor seizure	4695	NDUFA2	OMIM:618235
HP:0020219	Motor seizure	1806	DPYD	ORPHA:1675
HP:0020219	Motor seizure	137682	NDUFAF6	OMIM:618239
HP:0020219	Motor seizure	1203	CLN5	ORPHA:228360
HP:0020219	Motor seizure	2137	EXTL3	ORPHA:508533
HP:0020219	Motor seizure	8943	AP3D1	OMIM:617050
HP:0020219	Motor seizure	29920	PYCR2	ORPHA:481152
HP:0020219	Motor seizure	5428	POLG	OMIM:203700
HP:0020219	Motor seizure	5457	POU4F1	ORPHA:314647
HP:0020219	Motor seizure	2892	GRIA3	OMIM:300699
HP:0020219	Motor seizure	2019	EN1	OMIM:619218
HP:0020219	Motor seizure	56270	WDR45B	OMIM:617977
HP:0020219	Motor seizure	79583	TMEM231	ORPHA:2752
HP:0020219	Motor seizure	197322	ACSF3	ORPHA:289504
HP:0020219	Motor seizure	197322	ACSF3	OMIM:614265
HP:0020219	Motor seizure	23261	CAMTA1	OMIM:614756
HP:0020219	Motor seizure	9969	MED13	OMIM:618009
HP:0020219	Motor seizure	1137	CHRNA4	ORPHA:98784
HP:0020219	Motor seizure	1135	CHRNA2	ORPHA:98784
HP:0020219	Motor seizure	57010	CABP4	ORPHA:98784
HP:0020219	Motor seizure	1141	CHRNB2	ORPHA:98784
HP:0020219	Motor seizure	1392	CRH	ORPHA:98784
HP:0020219	Motor seizure	2639	GCDH	ORPHA:25
HP:0020219	Motor seizure	199857	ALG14	OMIM:619031
HP:0020219	Motor seizure	8243	SMC1A	OMIM:301044
HP:0020219	Motor seizure	8243	SMC1A	ORPHA:3095
HP:0020219	Motor seizure	79876	UBA5	OMIM:617132
HP:0020219	Motor seizure	10617	STAMBP	OMIM:614261
HP:0020219	Motor seizure	340533	NEXMIF	OMIM:300912
HP:0020219	Motor seizure	2775	GNAO1	OMIM:617493
HP:0020219	Motor seizure	2775	GNAO1	ORPHA:1934
HP:0020219	Motor seizure	9759	HDAC4	OMIM:619797
HP:0020219	Motor seizure	9853	RUSC2	OMIM:617773
HP:0020219	Motor seizure	7355	SLC35A2	ORPHA:356961
HP:0020219	Motor seizure	92335	STRADA	ORPHA:500533
HP:0020219	Motor seizure	1798	DPAGT1	OMIM:608093
HP:0020219	Motor seizure	51807	TUBA8	ORPHA:250972
HP:0020219	Motor seizure	22845	DOLK	ORPHA:91131
HP:0020219	Motor seizure	170302	ARX	OMIM:308350
HP:0020219	Motor seizure	170302	ARX	ORPHA:3451
HP:0020219	Motor seizure	170302	ARX	OMIM:309510
HP:0020219	Motor seizure	170302	ARX	ORPHA:1934
HP:0020219	Motor seizure	4535	MT-ND1	ORPHA:255210
HP:0020219	Motor seizure	4536	MT-ND2	ORPHA:255210
HP:0020219	Motor seizure	4537	MT-ND3	ORPHA:255210
HP:0020219	Motor seizure	4538	MT-ND4	ORPHA:255210
HP:0020219	Motor seizure	4567	MT-TL1	ORPHA:255210
HP:0020219	Motor seizure	4578	MT-TW	ORPHA:255210
HP:0020219	Motor seizure	4577	MT-TV	ORPHA:255210
HP:0020219	Motor seizure	4508	MT-ATP6	ORPHA:255210
HP:0020219	Motor seizure	4540	MT-ND5	ORPHA:255210
HP:0020219	Motor seizure	4541	MT-ND6	ORPHA:255210
HP:0020219	Motor seizure	4566	MT-TK	ORPHA:255210
HP:0020219	Motor seizure	51412	ACTL6B	OMIM:618470
HP:0020219	Motor seizure	6792	CDKL5	ORPHA:3095
HP:0020219	Motor seizure	6792	CDKL5	ORPHA:505652
HP:0020219	Motor seizure	6792	CDKL5	OMIM:300672
HP:0020219	Motor seizure	6792	CDKL5	ORPHA:3451
HP:0020219	Motor seizure	6792	CDKL5	ORPHA:1934
HP:0020219	Motor seizure	22854	NTNG1	ORPHA:3095
HP:0020219	Motor seizure	4204	MECP2	ORPHA:3095
HP:0020219	Motor seizure	26275	HIBCH	ORPHA:88639
HP:0020219	Motor seizure	79868	ALG13	OMIM:300884
HP:0020219	Motor seizure	79868	ALG13	ORPHA:324422
HP:0020219	Motor seizure	51506	UFC1	OMIM:618076
HP:0020219	Motor seizure	23030	KDM4B	OMIM:619320
HP:0020219	Motor seizure	3745	KCNB1	OMIM:616056
HP:0020219	Motor seizure	2782	GNB1	OMIM:616973
HP:0020219	Motor seizure	7280	TUBB2A	OMIM:615763
HP:0020219	Motor seizure	10565	ARFGEF1	OMIM:619964
HP:0020219	Motor seizure	55768	NGLY1	ORPHA:404454
HP:0020219	Motor seizure	23097	CDK19	OMIM:618916
HP:0020219	Motor seizure	23499	MACF1	ORPHA:572013
HP:0020219	Motor seizure	23499	MACF1	OMIM:618325
HP:0020219	Motor seizure	387119	CEP85L	ORPHA:572013
HP:0020219	Motor seizure	2192	FBLN1	ORPHA:404451
HP:0020219	Motor seizure	427	ASAH1	ORPHA:333
HP:0020219	Motor seizure	347733	TUBB2B	ORPHA:467166
HP:0020219	Motor seizure	347733	TUBB2B	OMIM:610031
HP:0020219	Motor seizure	7846	TUBA1A	ORPHA:467166
HP:0020219	Motor seizure	7846	TUBA1A	ORPHA:171680
HP:0020219	Motor seizure	10381	TUBB3	ORPHA:467166
HP:0020219	Motor seizure	112939	NACC1	OMIM:617393
HP:0020219	Motor seizure	7283	TUBG1	OMIM:615412
HP:0020219	Motor seizure	79029	AFG2B	OMIM:619616
HP:0020219	Motor seizure	9326	ZNHIT3	ORPHA:2836
HP:0020219	Motor seizure	547	KIF1A	ORPHA:2836
HP:0020219	Motor seizure	3054	HCFC1	OMIM:309541
HP:0020219	Motor seizure	1183	CLCN4	ORPHA:485350
HP:0020219	Motor seizure	686	BTD	ORPHA:79241
HP:0020219	Motor seizure	9361	LONP1	ORPHA:79243
HP:0020219	Motor seizure	5160	PDHA1	ORPHA:79243
HP:0020219	Motor seizure	1000	CDH2	OMIM:618929
HP:0020219	Motor seizure	128989	TANGO2	ORPHA:480864
HP:0020219	Motor seizure	8131	NPRL3	ORPHA:98820
HP:0020219	Motor seizure	10641	NPRL2	ORPHA:98820
HP:0020219	Motor seizure	9681	DEPDC5	ORPHA:98820
HP:0020219	Motor seizure	25930	PTPN23	OMIM:618890
HP:0020219	Motor seizure	23327	NEDD4L	OMIM:617201
HP:0020219	Motor seizure	4761	NEUROD2	OMIM:618374
HP:0020219	Motor seizure	4761	NEUROD2	ORPHA:1934
HP:0020219	Motor seizure	84896	ATAD1	OMIM:618011
HP:0020219	Motor seizure	523	ATP6V1A	OMIM:618012
HP:0020219	Motor seizure	55780	ERMARD	OMIM:615544
HP:0020219	Motor seizure	56479	KCNQ5	OMIM:617601
HP:0020219	Motor seizure	1641	DCX	ORPHA:2148
HP:0020219	Motor seizure	284184	NDUFAF8	OMIM:618776
HP:0020219	Motor seizure	6711	SPTBN1	OMIM:619475
HP:0020219	Motor seizure	7249	TSC2	OMIM:613254
HP:0020219	Motor seizure	7249	TSC2	ORPHA:805
HP:0020219	Motor seizure	3458	IFNG	OMIM:613254
HP:0020219	Motor seizure	3458	IFNG	ORPHA:805
HP:0020219	Motor seizure	8452	CUL3	OMIM:619239
HP:0020219	Motor seizure	490	ATP2B1	OMIM:619910
HP:0020219	Motor seizure	2073	ERCC5	OMIM:278780
HP:0020219	Motor seizure	3098	HK1	OMIM:618547
HP:0020219	Motor seizure	85440	DOCK7	ORPHA:411986
HP:0020219	Motor seizure	85440	DOCK7	OMIM:615859
HP:0020219	Motor seizure	9289	ADGRG1	ORPHA:98889
HP:0020219	Motor seizure	5297	PI4KA	ORPHA:98889
HP:0020219	Motor seizure	27286	SRPX2	ORPHA:98889
HP:0020219	Motor seizure	80036	TRPM3	OMIM:620224
HP:0020219	Motor seizure	85365	ALG2	ORPHA:79326
HP:0020219	Motor seizure	85365	ALG2	OMIM:607906
HP:0020219	Motor seizure	4247	MGAT2	ORPHA:79329
HP:0020219	Motor seizure	728294	D2HGDH	OMIM:600721
HP:0020219	Motor seizure	253959	RALGAPA1	OMIM:618797
HP:0020219	Motor seizure	5594	MAPK1	OMIM:619087
HP:0020219	Motor seizure	2566	GABRG2	OMIM:618396
HP:0020219	Motor seizure	283989	TSEN54	ORPHA:2524
HP:0020219	Motor seizure	116461	TSEN15	ORPHA:2524
HP:0020219	Motor seizure	79042	TSEN34	ORPHA:2524
HP:0020219	Motor seizure	80746	TSEN2	ORPHA:2524
HP:0020219	Motor seizure	51091	SEPSECS	ORPHA:2524
HP:0020219	Motor seizure	2904	GRIN2B	OMIM:616139
HP:0020219	Motor seizure	2904	GRIN2B	ORPHA:3451
HP:0020219	Motor seizure	10297	APC2	OMIM:618677
HP:0020219	Motor seizure	7248	TSC1	OMIM:191100
HP:0020219	Motor seizure	7248	TSC1	ORPHA:805
HP:0020219	Motor seizure	221692	PHACTR1	ORPHA:3451
HP:0020219	Motor seizure	10695	CNPY3	ORPHA:3451
HP:0020219	Motor seizure	23236	PLCB1	ORPHA:3451
HP:0020219	Motor seizure	150094	SIK1	ORPHA:3451
HP:0020219	Motor seizure	150094	SIK1	ORPHA:1935
HP:0020219	Motor seizure	150094	SIK1	ORPHA:1934
HP:0020219	Motor seizure	6709	SPTAN1	ORPHA:3451
HP:0020219	Motor seizure	60558	GUF1	ORPHA:3451
HP:0020219	Motor seizure	11152	WDR45	ORPHA:3451
HP:0020219	Motor seizure	5277	PIGA	ORPHA:3451
HP:0020219	Motor seizure	4915	NTRK2	ORPHA:3451
HP:0020219	Motor seizure	1759	DNM1	OMIM:620352
HP:0020219	Motor seizure	55739	NAXD	OMIM:618321
HP:0020219	Motor seizure	2562	GABRB3	OMIM:617113
HP:0020219	Motor seizure	55275	VPS53	OMIM:615851
HP:0020219	Motor seizure	23219	FBXO28	OMIM:619777
HP:0020219	Motor seizure	25974	MMACHC	ORPHA:79282
HP:0020219	Motor seizure	1107	CHD3	OMIM:618205
HP:0020219	Motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0020219	Motor seizure	6509	SLC1A4	ORPHA:447997
HP:0020219	Motor seizure	2801	GOLGA2	OMIM:620240
HP:0020219	Motor seizure	80704	SLC19A3	ORPHA:263410
HP:0020219	Motor seizure	51645	PPIL1	OMIM:619301
HP:0020219	Motor seizure	1917	EEF1A2	OMIM:616393
HP:0020219	Motor seizure	1468	SLC25A10	OMIM:618972
HP:0020219	Motor seizure	51362	CDC40	OMIM:619302
HP:0020219	Motor seizure	57647	DHX37	OMIM:618731
HP:0020219	Motor seizure	1496	CTNNA2	OMIM:618174
HP:0020219	Motor seizure	8803	SUCLA2	OMIM:612073
HP:0020219	Motor seizure	8449	DHX16	OMIM:618733
HP:0020219	Motor seizure	55753	OGDHL	OMIM:619701
HP:0020219	Motor seizure	81603	TRIM8	OMIM:619428
HP:0020219	Motor seizure	81603	TRIM8	ORPHA:1934
HP:0020219	Motor seizure	11342	RNF13	ORPHA:544503
HP:0020219	Motor seizure	79751	SLC25A22	ORPHA:1935
HP:0020219	Motor seizure	79751	SLC25A22	ORPHA:1934
HP:0020219	Motor seizure	3736	KCNA1	ORPHA:1934
HP:0020219	Motor seizure	9091	PIGQ	ORPHA:1934
HP:0020219	Motor seizure	2902	GRIN1	ORPHA:1934
HP:0020219	Motor seizure	2902	GRIN1	ORPHA:208447
HP:0020219	Motor seizure	8573	CASK	ORPHA:1934
HP:0020219	Motor seizure	2917	GRM7	ORPHA:1934
HP:0020219	Motor seizure	11284	PNKP	ORPHA:1934
HP:0020219	Motor seizure	51227	PIGP	ORPHA:1934
HP:0020219	Motor seizure	6324	SCN1B	ORPHA:1934
HP:0020219	Motor seizure	23258	DENND5A	OMIM:617281
HP:0020219	Motor seizure	3800	KIF5C	OMIM:615282
HP:0020219	Motor seizure	3798	KIF5A	OMIM:617235
HP:0020219	Motor seizure	477	ATP1A2	OMIM:619605
HP:0020219	Motor seizure	6328	SCN3A	OMIM:617935
HP:0020219	Motor seizure	27010	TPK1	OMIM:614458
HP:0020219	Motor seizure	2891	GRIA2	OMIM:618917
HP:0020219	Motor seizure	63908	NAPB	OMIM:620033
HP:0020219	Motor seizure	7337	UBE3A	ORPHA:98795
HP:0020219	Motor seizure	4677	NARS1	OMIM:619091
HP:0020219	Motor seizure	4677	NARS1	OMIM:619092
HP:0020219	Motor seizure	149371	EXOC8	OMIM:619076
HP:0020219	Motor seizure	3778	KCNMA1	OMIM:609446
HP:0020219	Motor seizure	51075	TMX2	OMIM:618730
HP:0020219	Motor seizure	84274	COQ5	OMIM:619028
HP:0020219	Motor seizure	5833	PCYT2	OMIM:618770
HP:0020219	Motor seizure	3658	IREB2	OMIM:618451
HP:0020219	Motor seizure	2558	GABRA5	OMIM:618559
HP:0020219	Motor seizure	1182	CLCN3	OMIM:619512
HP:0020219	Motor seizure	1182	CLCN3	OMIM:619517
HP:0020219	Motor seizure	23334	SZT2	OMIM:615476
HP:0020219	Motor seizure	23394	ADNP	OMIM:615873
HP:0020219	Motor seizure	775	CACNA1C	OMIM:620029
HP:0020219	Motor seizure	1062	CENPE	OMIM:616051
HP:0020219	Motor seizure	84197	POMK	OMIM:615249
HP:0020219	Motor seizure	10430	TMEM147	OMIM:620075
HP:0020219	Motor seizure	8242	KDM5C	OMIM:300534
HP:0020219	Motor seizure	284098	PIGW	OMIM:616025
HP:0020219	Motor seizure	8604	SLC25A12	OMIM:612949
HP:0020219	Motor seizure	283987	HID1	OMIM:619983
HP:0020219	Motor seizure	58472	SQOR	OMIM:619221
HP:0020219	Motor seizure	2257	FGF12	OMIM:617166
HP:0020219	Motor seizure	26960	NBEA	OMIM:619157
HP:0020219	Motor seizure	4723	NDUFV1	OMIM:618225
HP:0020219	Motor seizure	776	CACNA1D	OMIM:615474
HP:0020219	Motor seizure	81570	CLPB	OMIM:619835
HP:0020219	Motor seizure	10667	FARS2	OMIM:614946
HP:0020219	Motor seizure	3074	HEXB	OMIM:268800
HP:0020219	Motor seizure	3074	HEXB	ORPHA:309155
HP:0020219	Motor seizure	84816	RTN4IP1	OMIM:616732
HP:0020219	Motor seizure	7532	YWHAG	OMIM:617665
HP:0020219	Motor seizure	16	AARS1	OMIM:616339
HP:0020219	Motor seizure	55152	DALRD3	OMIM:618910
HP:0020219	Motor seizure	5934	RBL2	OMIM:619690
HP:0020219	Motor seizure	56915	EXOSC5	OMIM:619576
HP:0020219	Motor seizure	25915	NDUFAF3	OMIM:618240
HP:0020219	Motor seizure	79641	ROGDI	OMIM:226750
HP:0020219	Motor seizure	3746	KCNC1	OMIM:616187
HP:0020219	Motor seizure	27315	PGAP2	OMIM:614207
HP:0020219	Motor seizure	1201	CLN3	ORPHA:228346
HP:0020219	Motor seizure	1509	CTSD	OMIM:610127
HP:0020219	Motor seizure	815	CAMK2A	OMIM:618095
HP:0020219	Motor seizure	23152	CIC	OMIM:617600
HP:0020219	Motor seizure	23265	EXOC7	OMIM:619072
HP:0020219	Motor seizure	3737	KCNA2	OMIM:616366
HP:0020219	Motor seizure	22931	RAB18	OMIM:614222
HP:0020219	Motor seizure	93210	PGAP3	OMIM:615716
HP:0020219	Motor seizure	80781	COL18A1	OMIM:267750
HP:0020219	Motor seizure	51611	DPH5	OMIM:620070
HP:0020219	Motor seizure	10021	HCN4	OMIM:619521
HP:0020219	Motor seizure	128240	NAXE	OMIM:617186
HP:0020219	Motor seizure	23067	SETD1B	OMIM:619000
HP:0020219	Motor seizure	125988	MICOS13	OMIM:618329
HP:0020219	Motor seizure	9487	PIGL	OMIM:280000
HP:0020219	Motor seizure	129285	PPP1R21	OMIM:619383
HP:0020219	Motor seizure	80331	DNAJC5	OMIM:162350
HP:0020219	Motor seizure	7040	TGFB1	OMIM:618213
HP:0020219	Motor seizure	3832	KIF11	OMIM:152950
HP:0020219	Motor seizure	1460	CSNK2B	OMIM:618732
HP:0020219	Motor seizure	2760	GM2A	OMIM:272750
HP:0020219	Motor seizure	781	CACNA2D1	OMIM:620149
HP:0020219	Motor seizure	10319	LAMC3	OMIM:614115
HP:0004582	Irregularity of vertebral bodies	8838	CCN6	ORPHA:1159
HP:0004582	Irregularity of vertebral bodies	25839	COG4	ORPHA:85172
HP:0004582	Irregularity of vertebral bodies	9382	COG1	ORPHA:263508
HP:0030436	Fibrofolliculoma	201163	FLCN	OMIM:135150
HP:0030434	Pilomatrixoma	1387	CREBBP	ORPHA:353277
HP:0030434	Pilomatrixoma	1387	CREBBP	ORPHA:353281
HP:0030434	Pilomatrixoma	1499	CTNNB1	ORPHA:91414
HP:0030434	Pilomatrixoma	1499	CTNNB1	OMIM:132600
HP:0030434	Pilomatrixoma	2033	EP300	ORPHA:353284
HP:0030434	Pilomatrixoma	324	APC	ORPHA:99818
HP:0030434	Pilomatrixoma	324	APC	ORPHA:247806
HP:0030434	Pilomatrixoma	324	APC	ORPHA:79665
HP:0030434	Pilomatrixoma	9817	KEAP1	ORPHA:276399
HP:0030434	Pilomatrixoma	23405	DICER1	ORPHA:276399
HP:0010001	Complete duplication of the distal phalanges of the hand	64327	LMBR1	OMIM:174500
HP:0010001	Complete duplication of the distal phalanges of the hand	8200	GDF5	ORPHA:93384
HP:0010001	Complete duplication of the distal phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0010001	Complete duplication of the distal phalanges of the hand	23592	LEMD3	ORPHA:1879
HP:0010002	Complete duplication of the middle phalanges of the hand	51715	RAB23	OMIM:201000
HP:0010002	Complete duplication of the middle phalanges of the hand	22856	CHSY1	ORPHA:363417
HP:0010003	Partial duplication of the proximal phalanges of the hand	100151683	RNU4ATAC	OMIM:210710
HP:0010003	Partial duplication of the proximal phalanges of the hand	22856	CHSY1	ORPHA:363417
HP:0010006	Duplication of the proximal phalanx of hand	100151683	RNU4ATAC	OMIM:210710
HP:0010006	Duplication of the proximal phalanx of hand	22856	CHSY1	ORPHA:363417
HP:0010008	Duplication of the middle phalanx of hand	51715	RAB23	OMIM:201000
HP:0010008	Duplication of the middle phalanx of hand	22856	CHSY1	ORPHA:363417
HP:0010009	Abnormal 1st metacarpal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010009	Abnormal 1st metacarpal morphology	10084	PQBP1	OMIM:309500
HP:0010009	Abnormal 1st metacarpal morphology	4841	NONO	OMIM:300967
HP:0010009	Abnormal 1st metacarpal morphology	3549	IHH	OMIM:607778
HP:0010009	Abnormal 1st metacarpal morphology	4883	NPR3	OMIM:619543
HP:0010009	Abnormal 1st metacarpal morphology	8200	GDF5	ORPHA:93384
HP:0010009	Abnormal 1st metacarpal morphology	658	BMPR1B	ORPHA:93384
HP:0010009	Abnormal 1st metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0010009	Abnormal 1st metacarpal morphology	2535	FZD2	OMIM:164745
HP:0010009	Abnormal 1st metacarpal morphology	2535	FZD2	ORPHA:93328
HP:0010009	Abnormal 1st metacarpal morphology	23476	BRD4	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	9126	SMC3	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	8243	SMC1A	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	25836	NIPBL	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	55869	HDAC8	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	5885	RAD21	ORPHA:199
HP:0010009	Abnormal 1st metacarpal morphology	90	ACVR1	OMIM:135100
HP:0010009	Abnormal 1st metacarpal morphology	57020	VPS35L	OMIM:619135
HP:0010009	Abnormal 1st metacarpal morphology	9241	NOG	OMIM:186570
HP:0010009	Abnormal 1st metacarpal morphology	9241	NOG	OMIM:611377
HP:0010009	Abnormal 1st metacarpal morphology	57167	SALL4	OMIM:147750
HP:0010009	Abnormal 1st metacarpal morphology	3209	HOXA13	OMIM:140000
HP:0010009	Abnormal 1st metacarpal morphology	3209	HOXA13	ORPHA:2438
HP:0010009	Abnormal 1st metacarpal morphology	10847	SRCAP	OMIM:136140
HP:0010009	Abnormal 1st metacarpal morphology	55215	FANCI	OMIM:609053
HP:0010009	Abnormal 1st metacarpal morphology	6662	SOX9	OMIM:114290
HP:0010009	Abnormal 1st metacarpal morphology	5116	PCNT	OMIM:210720
HP:0010009	Abnormal 1st metacarpal morphology	26040	SETBP1	OMIM:269150
HP:0010009	Abnormal 1st metacarpal morphology	26040	SETBP1	ORPHA:798
HP:0010009	Abnormal 1st metacarpal morphology	388015	RTL1	ORPHA:96334
HP:0010009	Abnormal 1st metacarpal morphology	8788	DLK1	ORPHA:96334
HP:0010009	Abnormal 1st metacarpal morphology	55384	MEG3	ORPHA:96334
HP:0010009	Abnormal 1st metacarpal morphology	3911	LAMA5	OMIM:620076
HP:0010009	Abnormal 1st metacarpal morphology	124583	CANT1	OMIM:251450
HP:0010009	Abnormal 1st metacarpal morphology	7516	XRCC2	OMIM:617247
HP:0010009	Abnormal 1st metacarpal morphology	2177	FANCD2	OMIM:227646
HP:0010009	Abnormal 1st metacarpal morphology	9896	FIG4	ORPHA:3472
HP:0010009	Abnormal 1st metacarpal morphology	55697	VAC14	ORPHA:3472
HP:0010009	Abnormal 1st metacarpal morphology	64327	LMBR1	ORPHA:93321
HP:0010009	Abnormal 1st metacarpal morphology	6469	SHH	ORPHA:93321
HP:0010009	Abnormal 1st metacarpal morphology	7204	TRIO	ORPHA:476126
HP:0020221	Clonic seizure	50801	KCNK4	OMIM:618381
HP:0020221	Clonic seizure	8504	PEX3	OMIM:617370
HP:0020221	Clonic seizure	5649	RELN	OMIM:600512
HP:0020221	Clonic seizure	64780	MICAL1	OMIM:600512
HP:0020221	Clonic seizure	9211	LGI1	OMIM:600512
HP:0020221	Clonic seizure	3785	KCNQ2	ORPHA:1949
HP:0020221	Clonic seizure	3785	KCNQ2	ORPHA:306
HP:0020221	Clonic seizure	3785	KCNQ2	OMIM:121200
HP:0020221	Clonic seizure	3786	KCNQ3	ORPHA:1949
HP:0020221	Clonic seizure	3786	KCNQ3	ORPHA:306
HP:0020221	Clonic seizure	3786	KCNQ3	OMIM:121201
HP:0020221	Clonic seizure	23312	DMXL2	OMIM:618663
HP:0020221	Clonic seizure	132158	GLYCTK	OMIM:220120
HP:0020221	Clonic seizure	23241	PACS2	OMIM:618067
HP:0020221	Clonic seizure	6487	ST3GAL3	OMIM:615006
HP:0020221	Clonic seizure	51294	PCDH12	OMIM:251280
HP:0020221	Clonic seizure	53616	ADAM22	OMIM:617933
HP:0020221	Clonic seizure	55325	UFSP2	OMIM:620028
HP:0020221	Clonic seizure	112476	PRRT2	ORPHA:306
HP:0020221	Clonic seizure	9568	GABBR2	OMIM:617904
HP:0020221	Clonic seizure	6323	SCN1A	OMIM:604403
HP:0020221	Clonic seizure	6323	SCN1A	OMIM:607208
HP:0020221	Clonic seizure	6323	SCN1A	OMIM:619317
HP:0020221	Clonic seizure	6323	SCN1A	ORPHA:33069
HP:0020221	Clonic seizure	57526	PCDH19	OMIM:300088
HP:0020221	Clonic seizure	57526	PCDH19	ORPHA:33069
HP:0020221	Clonic seizure	284058	KANSL1	ORPHA:363965
HP:0020221	Clonic seizure	284058	KANSL1	ORPHA:363958
HP:0020221	Clonic seizure	6324	SCN1B	OMIM:617350
HP:0020221	Clonic seizure	6324	SCN1B	ORPHA:33069
HP:0020221	Clonic seizure	23316	CUX2	OMIM:618141
HP:0020221	Clonic seizure	23732	FRRS1L	OMIM:616981
HP:0020221	Clonic seizure	23732	FRRS1L	ORPHA:725
HP:0020221	Clonic seizure	57468	SLC12A5	OMIM:616645
HP:0020221	Clonic seizure	50485	SMARCAL1	ORPHA:1830
HP:0020221	Clonic seizure	478	ATP1A3	OMIM:619606
HP:0020221	Clonic seizure	2782	GNB1	OMIM:616973
HP:0020221	Clonic seizure	6334	SCN8A	OMIM:614558
HP:0020221	Clonic seizure	2554	GABRA1	OMIM:615744
HP:0020221	Clonic seizure	2554	GABRA1	ORPHA:33069
HP:0020221	Clonic seizure	2903	GRIN2A	ORPHA:725
HP:0020221	Clonic seizure	51343	FZR1	OMIM:620145
HP:0020221	Clonic seizure	6335	SCN9A	ORPHA:33069
HP:0020221	Clonic seizure	6326	SCN2A	ORPHA:33069
HP:0020221	Clonic seizure	2566	GABRG2	ORPHA:33069
HP:0020221	Clonic seizure	57465	TBC1D24	OMIM:608105
HP:0020221	Clonic seizure	57465	TBC1D24	ORPHA:163727
HP:0020221	Clonic seizure	27286	SRPX2	ORPHA:1945
HP:0020221	Clonic seizure	197322	ACSF3	ORPHA:289504
HP:0020221	Clonic seizure	197322	ACSF3	OMIM:614265
HP:0020221	Clonic seizure	8818	DPM2	ORPHA:329178
HP:0020221	Clonic seizure	6304	SATB1	OMIM:619229
HP:0020221	Clonic seizure	6792	CDKL5	ORPHA:1934
HP:0020221	Clonic seizure	3736	KCNA1	ORPHA:1934
HP:0020221	Clonic seizure	9091	PIGQ	ORPHA:1934
HP:0020221	Clonic seizure	2775	GNAO1	ORPHA:1934
HP:0020221	Clonic seizure	81603	TRIM8	ORPHA:1934
HP:0020221	Clonic seizure	2902	GRIN1	ORPHA:1934
HP:0020221	Clonic seizure	79751	SLC25A22	ORPHA:1934
HP:0020221	Clonic seizure	150094	SIK1	ORPHA:1934
HP:0020221	Clonic seizure	8573	CASK	ORPHA:1934
HP:0020221	Clonic seizure	2917	GRM7	ORPHA:1934
HP:0020221	Clonic seizure	170302	ARX	ORPHA:1934
HP:0020221	Clonic seizure	11284	PNKP	ORPHA:1934
HP:0020221	Clonic seizure	51227	PIGP	ORPHA:1934
HP:0020221	Clonic seizure	4761	NEUROD2	ORPHA:1934
HP:0020221	Clonic seizure	501	ALDH7A1	OMIM:266100
HP:0020221	Clonic seizure	2898	GRIK2	OMIM:619580
HP:0020221	Clonic seizure	23258	DENND5A	OMIM:617281
HP:0020221	Clonic seizure	11212	PLPBP	OMIM:617290
HP:0020221	Clonic seizure	3800	KIF5C	OMIM:615282
HP:0020221	Clonic seizure	3798	KIF5A	OMIM:617235
HP:0020221	Clonic seizure	348980	HCN1	OMIM:615871
HP:0020221	Clonic seizure	6711	SPTBN1	OMIM:619475
HP:0020221	Clonic seizure	523	ATP6V1A	OMIM:618012
HP:0020221	Clonic seizure	535	ATP6V0A1	OMIM:619970
HP:0020221	Clonic seizure	477	ATP1A2	OMIM:619605
HP:0020221	Clonic seizure	6328	SCN3A	OMIM:617935
HP:0020221	Clonic seizure	27010	TPK1	OMIM:614458
HP:0020221	Clonic seizure	2891	GRIA2	OMIM:618917
HP:0020221	Clonic seizure	63908	NAPB	OMIM:620033
HP:0020221	Clonic seizure	5660	PSAP	OMIM:610539
HP:0020221	Clonic seizure	1759	DNM1	OMIM:620352
HP:0020221	Clonic seizure	781	CACNA2D1	OMIM:620149
HP:0020222	Hypohomocysteinemia	4780	NFE2L2	OMIM:617744
HP:0020223	Dermal sinus tract	81839	VANGL1	OMIM:600145
HP:0030431	Osteochondroma	2131	EXT1	ORPHA:321
HP:0030431	Osteochondroma	2132	EXT2	ORPHA:321
HP:0030431	Osteochondroma	2737	GLI3	ORPHA:672
HP:0030431	Osteochondroma	1280	COL2A1	OMIM:609162
HP:0030431	Osteochondroma	2261	FGFR3	OMIM:610474
HP:0030431	Osteochondroma	55553	SOX6	OMIM:618971
HP:0030431	Osteochondroma	4773	NFATC2	OMIM:620232
HP:0030430	Neuroma	4771	NF2	ORPHA:637
HP:0030430	Neuroma	11235	PDCD10	ORPHA:221061
HP:0030430	Neuroma	83605	CCM2	ORPHA:221061
HP:0030430	Neuroma	889	KRIT1	ORPHA:221061
HP:0030430	Neuroma	4763	NF1	ORPHA:97685
HP:0004590	Hypoplastic sacrum	4920	ROR2	OMIM:268310
HP:0004590	Hypoplastic sacrum	4920	ROR2	OMIM:113000
HP:0004590	Hypoplastic sacrum	9321	TRIP11	OMIM:200600
HP:0004590	Hypoplastic sacrum	25886	POC1A	OMIM:614813
HP:0004590	Hypoplastic sacrum	55120	FANCL	OMIM:614083
HP:0004590	Hypoplastic sacrum	8626	TP63	OMIM:604292
HP:0004590	Hypoplastic sacrum	6223	RPS19	OMIM:105650
HP:0004591	Disc-like vertebral bodies	1280	COL2A1	OMIM:151210
HP:0004592	Thoracic platyspondyly	89970	RSPRY1	ORPHA:457395
HP:0004592	Thoracic platyspondyly	5593	PRKG2	OMIM:619636
HP:0004592	Thoracic platyspondyly	3930	LBR	OMIM:618019
HP:0004592	Thoracic platyspondyly	1280	COL2A1	ORPHA:166011
HP:0004592	Thoracic platyspondyly	5331	PLCB3	OMIM:618961
HP:0004592	Thoracic platyspondyly	2317	FLNB	OMIM:108720
HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	6399	TRAPPC2	ORPHA:93284
HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	6399	TRAPPC2	OMIM:313400
HP:0004598	Supernumerary vertebral ossification centers	3930	LBR	OMIM:215140
HP:0004598	Supernumerary vertebral ossification centers	3955	LFNG	OMIM:609813
HP:0004599	Absent or minimally ossified vertebral bodies	3930	LBR	OMIM:215140
HP:0004599	Absent or minimally ossified vertebral bodies	168667	BMPER	ORPHA:66637
HP:0004599	Absent or minimally ossified vertebral bodies	55112	DYNC2I1	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	57560	IFT80	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	57539	WDR35	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	79659	DYNC2H1	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	89891	DYNC2I2	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	1836	SLC26A2	OMIM:600972
HP:0004599	Absent or minimally ossified vertebral bodies	2317	FLNB	ORPHA:1190
HP:0004599	Absent or minimally ossified vertebral bodies	1280	COL2A1	OMIM:200610
HP:0004599	Absent or minimally ossified vertebral bodies	1280	COL2A1	ORPHA:93296
HP:0004599	Absent or minimally ossified vertebral bodies	9321	TRIP11	OMIM:200600
HP:0004599	Absent or minimally ossified vertebral bodies	249	ALPL	OMIM:241500
HP:0004599	Absent or minimally ossified vertebral bodies	6662	SOX9	ORPHA:140
HP:0004599	Absent or minimally ossified vertebral bodies	6662	SOX9	OMIM:114290
HP:0004599	Absent or minimally ossified vertebral bodies	57020	VPS35L	OMIM:619135
HP:0030437	Anal canal neoplasm	81704	DOCK8	ORPHA:217390
HP:0010010	Abnormal 2nd metacarpal morphology	860	RUNX2	OMIM:119600
HP:0010010	Abnormal 2nd metacarpal morphology	6299	SALL1	OMIM:107480
HP:0010010	Abnormal 2nd metacarpal morphology	2737	GLI3	ORPHA:93322
HP:0010010	Abnormal 2nd metacarpal morphology	650	BMP2	ORPHA:93396
HP:0010010	Abnormal 2nd metacarpal morphology	8200	GDF5	ORPHA:93396
HP:0010010	Abnormal 2nd metacarpal morphology	658	BMPR1B	ORPHA:93396
HP:0010011	Abnormal 3rd metacarpal morphology	6926	TBX3	OMIM:181450
HP:0010011	Abnormal 3rd metacarpal morphology	3930	LBR	OMIM:169400
HP:0010011	Abnormal 3rd metacarpal morphology	2316	FLNA	OMIM:311300
HP:0010011	Abnormal 3rd metacarpal morphology	374969	SVBP	OMIM:618569
HP:0010011	Abnormal 3rd metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0010011	Abnormal 3rd metacarpal morphology	2778	GNAS	ORPHA:79444
HP:0010012	Abnormal 4th metacarpal morphology	8823	FGF16	OMIM:309630
HP:0010012	Abnormal 4th metacarpal morphology	3239	HOXD13	OMIM:186300
HP:0010012	Abnormal 4th metacarpal morphology	64093	SMOC1	OMIM:206920
HP:0010012	Abnormal 4th metacarpal morphology	9775	EIF4A3	OMIM:268305
HP:0010012	Abnormal 4th metacarpal morphology	6926	TBX3	OMIM:181450
HP:0010012	Abnormal 4th metacarpal morphology	2737	GLI3	ORPHA:672
HP:0010012	Abnormal 4th metacarpal morphology	2737	GLI3	OMIM:146510
HP:0010012	Abnormal 4th metacarpal morphology	64840	PORCN	OMIM:305600
HP:0010012	Abnormal 4th metacarpal morphology	55612	FERMT1	ORPHA:2908
HP:0010012	Abnormal 4th metacarpal morphology	94005	PIGS	OMIM:618143
HP:0010012	Abnormal 4th metacarpal morphology	5593	PRKG2	OMIM:619638
HP:0010012	Abnormal 4th metacarpal morphology	3930	LBR	OMIM:169400
HP:0010012	Abnormal 4th metacarpal morphology	3930	LBR	OMIM:618019
HP:0010012	Abnormal 4th metacarpal morphology	374969	SVBP	OMIM:618569
HP:0010012	Abnormal 4th metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0010012	Abnormal 4th metacarpal morphology	2778	GNAS	ORPHA:79444
HP:0010012	Abnormal 4th metacarpal morphology	2778	GNAS	ORPHA:79445
HP:0010012	Abnormal 4th metacarpal morphology	6473	SHOX	OMIM:127300
HP:0010012	Abnormal 4th metacarpal morphology	6736	SRY	ORPHA:1772
HP:0010012	Abnormal 4th metacarpal morphology	2316	FLNA	OMIM:311300
HP:0010012	Abnormal 4th metacarpal morphology	79633	FAT4	OMIM:615546
HP:0010012	Abnormal 4th metacarpal morphology	8642	DCHS1	OMIM:601390
HP:0010012	Abnormal 4th metacarpal morphology	26224	FBXL3	OMIM:606220
HP:0010012	Abnormal 4th metacarpal morphology	5727	PTCH1	OMIM:109400
HP:0010013	Abnormal 5th metacarpal morphology	64093	SMOC1	OMIM:206920
HP:0010013	Abnormal 5th metacarpal morphology	9775	EIF4A3	OMIM:268305
HP:0010013	Abnormal 5th metacarpal morphology	2200	FBN1	ORPHA:969
HP:0010013	Abnormal 5th metacarpal morphology	2200	FBN1	OMIM:102370
HP:0010013	Abnormal 5th metacarpal morphology	4054	LTBP3	ORPHA:969
HP:0010013	Abnormal 5th metacarpal morphology	79848	CSPP1	ORPHA:397715
HP:0010013	Abnormal 5th metacarpal morphology	9786	KIAA0586	ORPHA:397715
HP:0010013	Abnormal 5th metacarpal morphology	6926	TBX3	OMIM:181450
HP:0010013	Abnormal 5th metacarpal morphology	55612	FERMT1	ORPHA:2908
HP:0010013	Abnormal 5th metacarpal morphology	650	BMP2	OMIM:617877
HP:0010013	Abnormal 5th metacarpal morphology	5593	PRKG2	OMIM:619638
HP:0010013	Abnormal 5th metacarpal morphology	3930	LBR	OMIM:169400
HP:0010013	Abnormal 5th metacarpal morphology	3930	LBR	OMIM:618019
HP:0010013	Abnormal 5th metacarpal morphology	374969	SVBP	OMIM:618569
HP:0010013	Abnormal 5th metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0010013	Abnormal 5th metacarpal morphology	2778	GNAS	ORPHA:79444
HP:0010013	Abnormal 5th metacarpal morphology	2778	GNAS	ORPHA:79445
HP:0010013	Abnormal 5th metacarpal morphology	1302	COL11A2	OMIM:215150
HP:0010013	Abnormal 5th metacarpal morphology	10847	SRCAP	OMIM:136140
HP:0010013	Abnormal 5th metacarpal morphology	860	RUNX2	OMIM:156510
HP:0010013	Abnormal 5th metacarpal morphology	3239	HOXD13	ORPHA:93409
HP:0010013	Abnormal 5th metacarpal morphology	2316	FLNA	OMIM:311300
HP:0010013	Abnormal 5th metacarpal morphology	8823	FGF16	OMIM:309630
HP:0010013	Abnormal 5th metacarpal morphology	9241	NOG	OMIM:185800
HP:0010014	Abnormality of the epiphysis of the 1st metacarpal	3549	IHH	OMIM:607778
HP:0010014	Abnormality of the epiphysis of the 1st metacarpal	4883	NPR3	OMIM:619543
HP:0010017	Cone-shaped epiphysis of the 1st metacarpal	3549	IHH	OMIM:607778
HP:0030446	Atypical pulmonary carcinoid tumor	1616	DAXX	ORPHA:100075
HP:0030446	Atypical pulmonary carcinoid tumor	546	ATRX	ORPHA:100075
HP:0030446	Atypical pulmonary carcinoid tumor	6392	SDHD	ORPHA:100093
HP:0030445	Pulmonary carcinoid tumor	4000	LMNA	ORPHA:363618
HP:0030445	Pulmonary carcinoid tumor	4221	MEN1	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1027	CDKN1B	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1027	CDKN1B	ORPHA:276152
HP:0030445	Pulmonary carcinoid tumor	1026	CDKN1A	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1030	CDKN2B	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1031	CDKN2C	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1616	DAXX	ORPHA:100075
HP:0030445	Pulmonary carcinoid tumor	546	ATRX	ORPHA:100075
HP:0030445	Pulmonary carcinoid tumor	6392	SDHD	ORPHA:100093
HP:0030442	Anal margin squamous cell carcinoma	56983	POGLUT1	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	3852	KRT5	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	23509	POFUT1	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	55851	PSENEN	ORPHA:79145
HP:0030440	Anal margin neoplasm	56983	POGLUT1	ORPHA:79145
HP:0030440	Anal margin neoplasm	3852	KRT5	ORPHA:79145
HP:0030440	Anal margin neoplasm	23509	POFUT1	ORPHA:79145
HP:0030440	Anal margin neoplasm	55851	PSENEN	ORPHA:79145
HP:0030451	Mesenteric cyst	9772	TMEM94	OMIM:618316
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	OMIM:613809
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3769	KCNJ13	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	343035	RD3	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	145226	RDH12	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	145226	RDH12	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1406	CRX	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	1406	CRX	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1406	CRX	OMIM:120970
HP:0030453	Abnormal visual electrophysiology	64802	NMNAT1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	80184	CEP290	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	80184	CEP290	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	10383	TUBB4B	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9742	IFT140	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9742	IFT140	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	85015	USP45	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	23418	CRB1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	23418	CRB1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	9657	IQCB1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	392255	GDF6	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	3000	GUCY2D	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9227	LRAT	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9227	LRAT	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55812	SPATA7	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	55812	SPATA7	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7287	TULP1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	7287	TULP1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	167691	LCA5	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	92482	BBIP1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	11020	IFT27	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	582	BBS1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	582	BBS1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	49855	SCAPER	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	49855	SCAPER	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4867	NPHP1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	51057	WDPCP	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	27241	BBS9	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	84984	CEP19	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	22954	TRIM32	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	54903	MKS1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	79738	BBS10	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	123016	TTC8	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	123016	TTC8	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	26160	IFT172	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	26160	IFT172	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	583	BBS2	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	583	BBS2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	585	BBS4	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	8195	MKKS	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	54585	LZTFL1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	55212	BBS7	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	166379	BBS12	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	10806	SDCCAG8	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	157657	CFAP418	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	157657	CFAP418	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	84100	ARL6	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	84100	ARL6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	129880	BBS5	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	80173	IFT74	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	6247	RS1	ORPHA:792
HP:0030453	Abnormal visual electrophysiology	79955	PDZD7	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	OMIM:276900
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	25861	WHRN	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	84059	ADGRV1	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	92840	REEP6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6094	ROM1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6094	ROM1	OMIM:608133
HP:0030453	Abnormal visual electrophysiology	6017	RLBP1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6017	RLBP1	OMIM:607475
HP:0030453	Abnormal visual electrophysiology	24	ABCA4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	24	ABCA4	OMIM:601718
HP:0030453	Abnormal visual electrophysiology	130557	ZNF513	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	92211	CDHR1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23568	ARL2BP	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	54806	AHI1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	54806	AHI1	OMIM:608629
HP:0030453	Abnormal visual electrophysiology	3419	IDH3A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4751	NEK2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	346007	EYS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	8100	IFT88	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23020	SNRNP200	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	762	CA4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	138050	HGSNAT	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	196	AHR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6103	RPGR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5148	PDE6G	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	26121	PRPF31	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4117	MAK	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	25794	FSCN2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3420	IDH3B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	57670	KIAA1549	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7275	TUB	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	24148	PRPF6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10461	MERTK	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	57709	SLC7A14	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	768206	PRCD	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23370	ARHGEF18	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5949	RBP3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6010	RHO	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6010	RHO	OMIM:613731
HP:0030453	Abnormal visual electrophysiology	84140	FAM161A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55624	POMGNT1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	79797	ZNF408	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	403	ARL3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5145	PDE6A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5145	PDE6A	OMIM:613810
HP:0030453	Abnormal visual electrophysiology	10210	TOPORS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10210	TOPORS	OMIM:609923
HP:0030453	Abnormal visual electrophysiology	8842	PROM1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	9128	PRPF4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	50939	IMPG2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	8481	OFD1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	2979	GUCA1B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1259	CNGA1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1258	CNGB1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1258	CNGB1	OMIM:613767
HP:0030453	Abnormal visual electrophysiology	60509	AGBL5	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5961	PRPH2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5961	PRPH2	OMIM:608133
HP:0030453	Abnormal visual electrophysiology	388939	PCARE	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	388939	PCARE	OMIM:613428
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	OMIM:153700
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	OMIM:613194
HP:0030453	Abnormal visual electrophysiology	9785	DHX38	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5995	RGR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	9129	PRPF3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55975	KLHL7	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	94137	RP1L1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5158	PDE6B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6102	RP2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55857	KIZ	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	64218	SEMA4A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4901	NRL	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10594	PRPF8	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6295	SAG	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	79947	DHDDS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10681	GNB5	OMIM:617173
HP:0030453	Abnormal visual electrophysiology	10681	GNB5	ORPHA:542306
HP:0030453	Abnormal visual electrophysiology	23126	POGZ	OMIM:616364
HP:0030453	Abnormal visual electrophysiology	778	CACNA1F	ORPHA:178333
HP:0030453	Abnormal visual electrophysiology	4308	TRPM1	OMIM:613216
HP:0030453	Abnormal visual electrophysiology	51	ACOX1	ORPHA:2971
HP:0030453	Abnormal visual electrophysiology	63895	PIEZO2	OMIM:108145
HP:0030453	Abnormal visual electrophysiology	63895	PIEZO2	ORPHA:1154
HP:0030453	Abnormal visual electrophysiology	291	SLC25A4	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	26007	TKFC	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	55750	AGK	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	30813	VSX1	OMIM:614195
HP:0030453	Abnormal visual electrophysiology	1121	CHM	ORPHA:180
HP:0030453	Abnormal visual electrophysiology	374879	ZNF699	OMIM:619488
HP:0030453	Abnormal visual electrophysiology	726	CAPN5	OMIM:193235
HP:0030453	Abnormal visual electrophysiology	7078	TIMP3	OMIM:136900
HP:0030453	Abnormal visual electrophysiology	51741	WWOX	OMIM:616211
HP:0030453	Abnormal visual electrophysiology	5146	PDE6C	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	2780	GNAT2	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	54714	CNGB3	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	2978	GUCA1A	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	6742	SSBP1	OMIM:165510
HP:0030453	Abnormal visual electrophysiology	57192	MCOLN1	ORPHA:578
HP:0030453	Abnormal visual electrophysiology	22901	ARSG	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	4575	MT-TS2	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	3035	HARS1	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	84131	CEP78	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	5189	PEX1	OMIM:214100
HP:0030453	Abnormal visual electrophysiology	7345	UCHL1	OMIM:615491
HP:0030453	Abnormal visual electrophysiology	9731	CEP104	OMIM:616781
HP:0030453	Abnormal visual electrophysiology	220074	LRTOMT	OMIM:611451
HP:0030453	Abnormal visual electrophysiology	10083	USH1C	OMIM:276900
HP:0030453	Abnormal visual electrophysiology	10083	USH1C	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	1678	TIMM8A	OMIM:304700
HP:0030453	Abnormal visual electrophysiology	3030	HADHA	ORPHA:5
HP:0030453	Abnormal visual electrophysiology	64072	CDH23	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	124590	USH1G	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	83715	ESPN	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	10518	CIB2	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	65217	PCDH15	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	54476	RNF216	ORPHA:1173
HP:0030453	Abnormal visual electrophysiology	10908	PNPLA6	ORPHA:1173
HP:0030453	Abnormal visual electrophysiology	2652	OPN1MW	ORPHA:16
HP:0030453	Abnormal visual electrophysiology	5956	OPN1LW	ORPHA:16
HP:0030453	Abnormal visual electrophysiology	23065	EMC1	OMIM:616875
HP:0030453	Abnormal visual electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0030453	Abnormal visual electrophysiology	4854	NOTCH3	OMIM:125310
HP:0030453	Abnormal visual electrophysiology	3295	HSD17B4	OMIM:261515
HP:0030453	Abnormal visual electrophysiology	1201	CLN3	ORPHA:228346
HP:0030453	Abnormal visual electrophysiology	1201	CLN3	OMIM:204200
HP:0030453	Abnormal visual electrophysiology	23155	CLCC1	OMIM:609913
HP:0030453	Abnormal visual electrophysiology	5147	PDE6D	OMIM:615665
HP:0030453	Abnormal visual electrophysiology	1200	TPP1	OMIM:204500
HP:0030453	Abnormal visual electrophysiology	57545	CC2D2A	OMIM:619845
HP:0030453	Abnormal visual electrophysiology	28982	FLVCR1	OMIM:609033
HP:0030453	Abnormal visual electrophysiology	1203	CLN5	ORPHA:228360
HP:0030453	Abnormal visual electrophysiology	2074	ERCC6	OMIM:133540
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309271
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309256
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309263
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309271
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309256
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:206436
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309263
HP:0030453	Abnormal visual electrophysiology	51102	MECR	ORPHA:508093
HP:0030453	Abnormal visual electrophysiology	57165	GJC2	ORPHA:320401
HP:0030453	Abnormal visual electrophysiology	2395	FXN	OMIM:229300
HP:0030453	Abnormal visual electrophysiology	1593	CYP27A1	ORPHA:909
HP:0030453	Abnormal visual electrophysiology	6785	ELOVL4	ORPHA:827
HP:0030453	Abnormal visual electrophysiology	6785	ELOVL4	OMIM:614457
HP:0030453	Abnormal visual electrophysiology	5428	POLG	OMIM:203700
HP:0030453	Abnormal visual electrophysiology	79751	SLC25A22	OMIM:609304
HP:0030453	Abnormal visual electrophysiology	2581	GALC	ORPHA:206436
HP:0030453	Abnormal visual electrophysiology	2581	GALC	ORPHA:206443
HP:0030453	Abnormal visual electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0030453	Abnormal visual electrophysiology	8398	PLA2G6	OMIM:256600
HP:0030453	Abnormal visual electrophysiology	22930	RAB3GAP1	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	22931	RAB18	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	128637	TBC1D20	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	8086	AAAS	OMIM:231550
HP:0030453	Abnormal visual electrophysiology	10312	TCIRG1	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	1186	CLCN7	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	29887	SNX10	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	8600	TNFSF11	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	7274	TTPA	ORPHA:96
HP:0030453	Abnormal visual electrophysiology	10397	NDRG1	OMIM:601455
HP:0030453	Abnormal visual electrophysiology	56947	MFF	ORPHA:485421
HP:0030453	Abnormal visual electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030453	Abnormal visual electrophysiology	7841	MOGS	ORPHA:79330
HP:0030453	Abnormal visual electrophysiology	7299	TYR	ORPHA:79431
HP:0030453	Abnormal visual electrophysiology	1161	ERCC8	OMIM:216400
HP:0030453	Abnormal visual electrophysiology	9927	MFN2	OMIM:601152
HP:0030453	Abnormal visual electrophysiology	3908	LAMA2	ORPHA:258
HP:0030453	Abnormal visual electrophysiology	4976	OPA1	OMIM:125250
HP:0030453	Abnormal visual electrophysiology	4976	OPA1	OMIM:165500
HP:0030453	Abnormal visual electrophysiology	10195	ALG3	OMIM:601110
HP:0030453	Abnormal visual electrophysiology	5538	PPT1	OMIM:256730
HP:0030453	Abnormal visual electrophysiology	3423	IDS	ORPHA:217085
HP:0030453	Abnormal visual electrophysiology	3423	IDS	ORPHA:217093
HP:0030453	Abnormal visual electrophysiology	285440	CYP4V2	ORPHA:41751
HP:0030453	Abnormal visual electrophysiology	9215	LARGE1	OMIM:608840
HP:0030453	Abnormal visual electrophysiology	10002	NR2E3	OMIM:611131
HP:0030453	Abnormal visual electrophysiology	6121	RPE65	OMIM:204100
HP:0030453	Abnormal visual electrophysiology	375298	CERKL	OMIM:608380
HP:0030453	Abnormal visual electrophysiology	57096	RPGRIP1	OMIM:608194
HP:0030453	Abnormal visual electrophysiology	7401	CLRN1	OMIM:614180
HP:0030453	Abnormal visual electrophysiology	6101	RP1	OMIM:180100
HP:0030453	Abnormal visual electrophysiology	4508	MT-ATP6	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	23636	NUP62	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	103	ADAR	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	6100	RP9	OMIM:180104
HP:0030453	Abnormal visual electrophysiology	5130	PCYT1A	ORPHA:85167
HP:0030453	Abnormal visual electrophysiology	23746	AIPL1	OMIM:604393
HP:0030453	Abnormal visual electrophysiology	3614	IMPDH1	OMIM:180105
HP:0030453	Abnormal visual electrophysiology	6310	ATXN1	ORPHA:98755
HP:0030453	Abnormal visual electrophysiology	51109	RDH11	ORPHA:436245
HP:0030453	Abnormal visual electrophysiology	25782	RAB3GAP2	OMIM:614225
HP:0030453	Abnormal visual electrophysiology	4724	NDUFS4	OMIM:252010
HP:0030453	Abnormal visual electrophysiology	1340	COX6B1	OMIM:619051
HP:0030453	Abnormal visual electrophysiology	5631	PRPS1	ORPHA:423479
HP:0030453	Abnormal visual electrophysiology	57107	PDSS2	ORPHA:255249
HP:0030453	Abnormal visual electrophysiology	27235	COQ2	ORPHA:255249
HP:0030453	Abnormal visual electrophysiology	478	ATP1A3	OMIM:601338
HP:0030453	Abnormal visual electrophysiology	9326	ZNHIT3	OMIM:260565
HP:0030453	Abnormal visual electrophysiology	9526	MPDU1	ORPHA:79323
HP:0030453	Abnormal visual electrophysiology	28962	OSTM1	OMIM:259720
HP:0030453	Abnormal visual electrophysiology	3617	IMPG1	OMIM:616151
HP:0030453	Abnormal visual electrophysiology	611	OPN1SW	OMIM:190900
HP:0030453	Abnormal visual electrophysiology	5959	RDH5	ORPHA:52427
HP:0030453	Abnormal visual electrophysiology	83552	MFRP	OMIM:611040
HP:0030453	Abnormal visual electrophysiology	4287	ATXN3	OMIM:109150
HP:0030453	Abnormal visual electrophysiology	80208	SPG11	ORPHA:2822
HP:0030453	Abnormal visual electrophysiology	10059	DNM1L	OMIM:610708
HP:0030453	Abnormal visual electrophysiology	2055	CLN8	ORPHA:1947
HP:0030453	Abnormal visual electrophysiology	10283	CWC27	ORPHA:166035
HP:0030453	Abnormal visual electrophysiology	22926	ATF6	ORPHA:49382
HP:0030453	Abnormal visual electrophysiology	5149	PDE6H	ORPHA:49382
HP:0030453	Abnormal visual electrophysiology	1261	CNGA3	ORPHA:49382
HP:0030453	Abnormal visual electrophysiology	1261	CNGA3	OMIM:216900
HP:0030453	Abnormal visual electrophysiology	57010	CABP4	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	345193	LRIT3	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	93589	CACNA2D4	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2916	GRM6	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	440435	GPR179	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	6011	GRK1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	9187	SLC24A1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2784	GNB3	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2779	GNAT1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	60506	NYX	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	9371	KIF3B	OMIM:618955
HP:0030453	Abnormal visual electrophysiology	5193	PEX12	OMIM:266510
HP:0030453	Abnormal visual electrophysiology	83723	TLCD3B	OMIM:619531
HP:0030453	Abnormal visual electrophysiology	23093	TTLL5	OMIM:615860
HP:0030454	Abnormal electrooculogram	3617	IMPG1	OMIM:616151
HP:0030454	Abnormal electrooculogram	4287	ATXN3	OMIM:109150
HP:0030455	Abnormality of pattern visual evoked potentials	4976	OPA1	OMIM:125250
HP:0030455	Abnormality of pattern visual evoked potentials	4976	OPA1	OMIM:165500
HP:0030455	Abnormality of pattern visual evoked potentials	80208	SPG11	ORPHA:2822
HP:0030455	Abnormality of pattern visual evoked potentials	10059	DNM1L	OMIM:610708
HP:0030455	Abnormality of pattern visual evoked potentials	2055	CLN8	ORPHA:1947
HP:0030455	Abnormality of pattern visual evoked potentials	10283	CWC27	ORPHA:166035
HP:0030448	Soft tissue sarcoma	6654	SOS1	OMIM:135300
HP:0030448	Soft tissue sarcoma	6654	SOS1	ORPHA:2024
HP:0030448	Soft tissue sarcoma	1718	DHCR24	OMIM:602398
HP:0030448	Soft tissue sarcoma	118429	ANTXR2	OMIM:228600
HP:0030448	Soft tissue sarcoma	118429	ANTXR2	ORPHA:2028
HP:0030448	Soft tissue sarcoma	23461	ABCA5	OMIM:135400
HP:0030448	Soft tissue sarcoma	23461	ABCA5	ORPHA:2026
HP:0030448	Soft tissue sarcoma	54757	FAM20A	OMIM:204690
HP:0030448	Soft tissue sarcoma	3756	KCNH1	OMIM:135500
HP:0030448	Soft tissue sarcoma	3756	KCNH1	ORPHA:3473
HP:0030448	Soft tissue sarcoma	63916	ELMO2	ORPHA:3019
HP:0030448	Soft tissue sarcoma	5978	REST	ORPHA:2024
HP:0030448	Soft tissue sarcoma	5978	REST	OMIM:617626
HP:0030448	Soft tissue sarcoma	526	ATP6V1B2	ORPHA:3473
HP:0030448	Soft tissue sarcoma	3782	KCNN3	ORPHA:3473
HP:0030448	Soft tissue sarcoma	56975	FAM20C	ORPHA:1832
HP:0030448	Soft tissue sarcoma	3815	KIT	OMIM:606764
HP:0030448	Soft tissue sarcoma	6711	SPTBN1	OMIM:619475
HP:0030448	Soft tissue sarcoma	161742	SPRED1	OMIM:611431
HP:0030448	Soft tissue sarcoma	161742	SPRED1	ORPHA:137605
HP:0030448	Soft tissue sarcoma	8314	BAP1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	4771	NF2	ORPHA:2495
HP:0030448	Soft tissue sarcoma	6598	SMARCB1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	5155	PDGFB	ORPHA:2495
HP:0030448	Soft tissue sarcoma	84231	TRAF7	ORPHA:2495
HP:0030448	Soft tissue sarcoma	6608	SMO	ORPHA:2495
HP:0030448	Soft tissue sarcoma	7015	TERT	ORPHA:2495
HP:0030448	Soft tissue sarcoma	51684	SUFU	ORPHA:2495
HP:0030448	Soft tissue sarcoma	6605	SMARCE1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	4035	LRP1	ORPHA:79100
HP:0030448	Soft tissue sarcoma	23405	DICER1	OMIM:601200
HP:0030448	Soft tissue sarcoma	5727	PTCH1	ORPHA:77301
HP:0030448	Soft tissue sarcoma	4763	NF1	OMIM:162200
HP:0030448	Soft tissue sarcoma	4763	NF1	ORPHA:97685
HP:0030448	Soft tissue sarcoma	9184	BUB3	ORPHA:1052
HP:0030448	Soft tissue sarcoma	699	BUB1	ORPHA:1052
HP:0030448	Soft tissue sarcoma	9702	CEP57	ORPHA:1052
HP:0030448	Soft tissue sarcoma	9319	TRIP13	ORPHA:1052
HP:0030448	Soft tissue sarcoma	701	BUB1B	ORPHA:1052
HP:0030448	Soft tissue sarcoma	4683	NBN	OMIM:251260
HP:0030448	Soft tissue sarcoma	4683	NBN	ORPHA:647
HP:0030448	Soft tissue sarcoma	4157	MC1R	ORPHA:626
HP:0030448	Soft tissue sarcoma	7157	TP53	ORPHA:524
HP:0030448	Soft tissue sarcoma	1029	CDKN2A	ORPHA:524
HP:0030448	Soft tissue sarcoma	4193	MDM2	ORPHA:524
HP:0030448	Soft tissue sarcoma	11200	CHEK2	ORPHA:524
HP:0030448	Soft tissue sarcoma	6714	SRC	OMIM:114500
HP:0030448	Soft tissue sarcoma	10395	DLC1	OMIM:114500
HP:0030448	Soft tissue sarcoma	8313	AXIN2	OMIM:114500
HP:0030448	Soft tissue sarcoma	2033	EP300	OMIM:114500
HP:0030448	Soft tissue sarcoma	5782	PTPN12	OMIM:114500
HP:0030448	Soft tissue sarcoma	5320	PLA2G2A	OMIM:114500
HP:0030448	Soft tissue sarcoma	6790	AURKA	OMIM:114500
HP:0030448	Soft tissue sarcoma	1630	DCC	OMIM:114500
HP:0030448	Soft tissue sarcoma	27030	MLH3	OMIM:114500
HP:0030448	Soft tissue sarcoma	581	BAX	OMIM:114500
HP:0030448	Soft tissue sarcoma	25788	RAD54B	OMIM:114500
HP:0030448	Soft tissue sarcoma	595	CCND1	OMIM:114500
HP:0030448	Soft tissue sarcoma	2261	FGFR3	OMIM:114500
HP:0030448	Soft tissue sarcoma	7097	TLR2	OMIM:114500
HP:0030448	Soft tissue sarcoma	324	APC	OMIM:114500
HP:0030448	Soft tissue sarcoma	1499	CTNNB1	OMIM:114500
HP:0030448	Soft tissue sarcoma	4163	MCC	OMIM:114500
HP:0030448	Soft tissue sarcoma	5157	PDGFRL	OMIM:114500
HP:0030448	Soft tissue sarcoma	5795	PTPRJ	OMIM:114500
HP:0030448	Soft tissue sarcoma	673	BRAF	OMIM:114500
HP:0030448	Soft tissue sarcoma	5002	SLC22A18	OMIM:268210
HP:0030448	Soft tissue sarcoma	2271	FH	OMIM:150800
HP:0030448	Soft tissue sarcoma	201163	FLCN	OMIM:135150
HP:0030448	Soft tissue sarcoma	5081	PAX7	OMIM:268220
HP:0030448	Soft tissue sarcoma	2308	FOXO1	OMIM:268220
HP:0030448	Soft tissue sarcoma	5077	PAX3	OMIM:268220
HP:0030448	Soft tissue sarcoma	9817	KEAP1	ORPHA:276399
HP:0030448	Soft tissue sarcoma	4292	MLH1	OMIM:158320
HP:0030448	Soft tissue sarcoma	4292	MLH1	ORPHA:587
HP:0030448	Soft tissue sarcoma	4436	MSH2	OMIM:158320
HP:0030448	Soft tissue sarcoma	4436	MSH2	ORPHA:587
HP:0030448	Soft tissue sarcoma	3265	HRAS	ORPHA:2612
HP:0030448	Soft tissue sarcoma	3845	KRAS	ORPHA:2612
HP:0030448	Soft tissue sarcoma	4893	NRAS	ORPHA:2612
HP:0030448	Soft tissue sarcoma	7249	TSC2	OMIM:613254
HP:0030448	Soft tissue sarcoma	3458	IFNG	OMIM:613254
HP:0030448	Soft tissue sarcoma	2956	MSH6	ORPHA:587
HP:0030448	Soft tissue sarcoma	10483	SEC23B	ORPHA:201
HP:0030448	Soft tissue sarcoma	5728	PTEN	ORPHA:201
HP:0030448	Soft tissue sarcoma	6390	SDHB	ORPHA:201
HP:0030448	Soft tissue sarcoma	6392	SDHD	ORPHA:201
HP:0030448	Soft tissue sarcoma	6391	SDHC	ORPHA:201
HP:0030448	Soft tissue sarcoma	207	AKT1	ORPHA:201
HP:0030448	Soft tissue sarcoma	205717	USF3	ORPHA:201
HP:0030448	Soft tissue sarcoma	5290	PIK3CA	ORPHA:201
HP:0030448	Soft tissue sarcoma	100144748	KLLN	ORPHA:201
HP:0030448	Soft tissue sarcoma	5333	PLCD1	ORPHA:2387
HP:0030448	Soft tissue sarcoma	7248	TSC1	OMIM:191100
HP:0030448	Soft tissue sarcoma	4221	MEN1	OMIM:131100
HP:0030448	Soft tissue sarcoma	3872	KRT17	ORPHA:841
HP:0030448	Soft tissue sarcoma	5159	PDGFRB	OMIM:228550
HP:0030448	Soft tissue sarcoma	5159	PDGFRB	ORPHA:2591
HP:0030448	Soft tissue sarcoma	2316	FLNA	OMIM:300244
HP:0030448	Soft tissue sarcoma	79577	CDC73	ORPHA:143
HP:0030448	Soft tissue sarcoma	79577	CDC73	ORPHA:99880
HP:0030448	Soft tissue sarcoma	4854	NOTCH3	ORPHA:2591
HP:0030448	Soft tissue sarcoma	1288	COL4A6	ORPHA:1018
HP:0030448	Soft tissue sarcoma	1287	COL4A5	ORPHA:1018
HP:0030448	Soft tissue sarcoma	3572	IL6ST	OMIM:619750
HP:0030448	Soft tissue sarcoma	1027	CDKN1B	ORPHA:652
HP:0030448	Soft tissue sarcoma	1027	CDKN1B	ORPHA:276152
HP:0030448	Soft tissue sarcoma	1026	CDKN1A	ORPHA:652
HP:0030448	Soft tissue sarcoma	1030	CDKN2B	ORPHA:652
HP:0030448	Soft tissue sarcoma	1031	CDKN2C	ORPHA:652
HP:0030448	Soft tissue sarcoma	5618	PRLR	OMIM:615554
HP:0030448	Soft tissue sarcoma	5566	PRKACA	ORPHA:189439
HP:0030448	Soft tissue sarcoma	8622	PDE8B	ORPHA:189439
HP:0030448	Soft tissue sarcoma	5573	PRKAR1A	ORPHA:189439
HP:0030448	Soft tissue sarcoma	5573	PRKAR1A	ORPHA:1359
HP:0030448	Soft tissue sarcoma	50940	PDE11A	ORPHA:189439
HP:0030448	Soft tissue sarcoma	50940	PDE11A	ORPHA:1359
HP:0030448	Soft tissue sarcoma	355	FAS	ORPHA:3261
HP:0030448	Soft tissue sarcoma	356	FASLG	ORPHA:3261
HP:0030448	Soft tissue sarcoma	5580	PRKCD	ORPHA:3261
HP:0030448	Soft tissue sarcoma	843	CASP10	ORPHA:3261
HP:0030448	Soft tissue sarcoma	10125	RASGRP1	ORPHA:3261
HP:0030448	Soft tissue sarcoma	79058	ASPSCR1	OMIM:606243
HP:0030448	Soft tissue sarcoma	6757	SSX2	OMIM:300813
HP:0030448	Soft tissue sarcoma	89970	RSPRY1	ORPHA:457395
HP:0030448	Soft tissue sarcoma	2303	FOXC2	ORPHA:33001
HP:0030448	Soft tissue sarcoma	1277	COL1A1	ORPHA:31112
HP:0030448	Soft tissue sarcoma	4507	MTAP	OMIM:112250
HP:0030448	Soft tissue sarcoma	4595	MUTYH	ORPHA:247798
HP:0030448	Soft tissue sarcoma	26585	GREM1	ORPHA:157794
HP:0030448	Soft tissue sarcoma	657	BMPR1A	ORPHA:157794
HP:0030448	Soft tissue sarcoma	5604	MAP2K1	OMIM:163950
HP:0030448	Soft tissue sarcoma	5781	PTPN11	OMIM:163950
HP:0030448	Soft tissue sarcoma	2324	FLT4	ORPHA:79452
HP:0030448	Soft tissue sarcoma	57165	GJC2	ORPHA:79452
HP:0030448	Soft tissue sarcoma	2050	EPHB4	ORPHA:90186
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	OMIM:613013
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	ORPHA:99803
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	OMIM:209880
HP:0030450	Neoplasm of the autonomic nervous system	1908	EDN3	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	2668	GDNF	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	627	BDNF	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	283446	MYO1H	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	5979	RET	OMIM:162300
HP:0030450	Neoplasm of the autonomic nervous system	5979	RET	ORPHA:99803
HP:0030450	Neoplasm of the autonomic nervous system	23095	KIF1B	OMIM:256700
HP:0030450	Neoplasm of the autonomic nervous system	429	ASCL1	ORPHA:99803
HP:0010022	Pseudoepiphysis of the 1st metacarpal	4883	NPR3	OMIM:619543
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	2535	FZD2	OMIM:164745
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	2535	FZD2	ORPHA:93328
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	23476	BRD4	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	9126	SMC3	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	8243	SMC1A	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	25836	NIPBL	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	55869	HDAC8	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	5885	RAD21	ORPHA:199
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	90	ACVR1	OMIM:135100
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	57020	VPS35L	OMIM:619135
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	9241	NOG	OMIM:186570
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	9241	NOG	OMIM:611377
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	8200	GDF5	ORPHA:63442
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	8200	GDF5	OMIM:113100
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	57167	SALL4	OMIM:147750
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	3209	HOXA13	OMIM:140000
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	3209	HOXA13	ORPHA:2438
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	658	BMPR1B	OMIM:609441
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	10847	SRCAP	OMIM:136140
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	55215	FANCI	OMIM:609053
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	6662	SOX9	OMIM:114290
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	5116	PCNT	OMIM:210720
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	26040	SETBP1	OMIM:269150
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	26040	SETBP1	ORPHA:798
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	388015	RTL1	ORPHA:96334
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	8788	DLK1	ORPHA:96334
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	55384	MEG3	ORPHA:96334
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	3911	LAMA5	OMIM:620076
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	124583	CANT1	OMIM:251450
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	7516	XRCC2	OMIM:617247
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	2177	FANCD2	OMIM:227646
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	9896	FIG4	ORPHA:3472
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	55697	VAC14	ORPHA:3472
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	64327	LMBR1	ORPHA:93321
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	6469	SHH	ORPHA:93321
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	7204	TRIO	ORPHA:476126
HP:0010027	Broad 1st metacarpal	2778	GNAS	ORPHA:79443
HP:0030462	Abnormal amplitude of flash visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0030465	Undetectable light-adapted electroretinogram	22926	ATF6	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5146	PDE6C	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5146	PDE6C	OMIM:613093
HP:0030465	Undetectable light-adapted electroretinogram	6103	RPGR	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5149	PDE6H	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	2780	GNAT2	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	1261	CNGA3	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	1261	CNGA3	OMIM:216900
HP:0030465	Undetectable light-adapted electroretinogram	54714	CNGB3	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	51	ACOX1	OMIM:264470
HP:0030466	Abnormal full-field electroretinogram	10195	ALG3	OMIM:601110
HP:0030466	Abnormal full-field electroretinogram	7439	BEST1	OMIM:611809
HP:0030466	Abnormal full-field electroretinogram	9227	LRAT	OMIM:613341
HP:0030466	Abnormal full-field electroretinogram	5538	PPT1	OMIM:256730
HP:0030466	Abnormal full-field electroretinogram	3000	GUCY2D	OMIM:204000
HP:0030466	Abnormal full-field electroretinogram	3420	IDH3B	OMIM:612572
HP:0030466	Abnormal full-field electroretinogram	3423	IDS	ORPHA:217085
HP:0030466	Abnormal full-field electroretinogram	3423	IDS	ORPHA:217093
HP:0030466	Abnormal full-field electroretinogram	285440	CYP4V2	ORPHA:41751
HP:0030466	Abnormal full-field electroretinogram	85015	USP45	OMIM:618513
HP:0030466	Abnormal full-field electroretinogram	55624	POMGNT1	OMIM:253280
HP:0030466	Abnormal full-field electroretinogram	5995	RGR	OMIM:613769
HP:0030466	Abnormal full-field electroretinogram	9215	LARGE1	OMIM:608840
HP:0030466	Abnormal full-field electroretinogram	57192	MCOLN1	OMIM:252650
HP:0030466	Abnormal full-field electroretinogram	10002	NR2E3	OMIM:611131
HP:0030466	Abnormal full-field electroretinogram	6121	RPE65	OMIM:204100
HP:0030466	Abnormal full-field electroretinogram	375298	CERKL	OMIM:608380
HP:0030466	Abnormal full-field electroretinogram	57096	RPGRIP1	OMIM:608194
HP:0030466	Abnormal full-field electroretinogram	7401	CLRN1	OMIM:614180
HP:0030466	Abnormal full-field electroretinogram	6101	RP1	OMIM:180100
HP:0030466	Abnormal full-field electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	23636	NUP62	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	103	ADAR	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	6100	RP9	OMIM:180104
HP:0030466	Abnormal full-field electroretinogram	5130	PCYT1A	ORPHA:85167
HP:0030466	Abnormal full-field electroretinogram	23746	AIPL1	OMIM:604393
HP:0030466	Abnormal full-field electroretinogram	3614	IMPDH1	OMIM:180105
HP:0030466	Abnormal full-field electroretinogram	24	ABCA4	OMIM:604116
HP:0030466	Abnormal full-field electroretinogram	6247	RS1	OMIM:312700
HP:0030466	Abnormal full-field electroretinogram	611	OPN1SW	OMIM:190900
HP:0030466	Abnormal full-field electroretinogram	123016	TTC8	OMIM:613464
HP:0030466	Abnormal full-field electroretinogram	5961	PRPH2	ORPHA:52427
HP:0030466	Abnormal full-field electroretinogram	5959	RDH5	ORPHA:52427
HP:0030466	Abnormal full-field electroretinogram	8842	PROM1	OMIM:612657
HP:0030466	Abnormal full-field electroretinogram	130557	ZNF513	OMIM:613617
HP:0030466	Abnormal full-field electroretinogram	83552	MFRP	OMIM:611040
HP:0030466	Abnormal full-field electroretinogram	22926	ATF6	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	5146	PDE6C	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	5146	PDE6C	OMIM:613093
HP:0030466	Abnormal full-field electroretinogram	6103	RPGR	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	5149	PDE6H	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	2780	GNAT2	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	1261	CNGA3	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	1261	CNGA3	OMIM:216900
HP:0030466	Abnormal full-field electroretinogram	54714	CNGB3	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	94137	RP1L1	OMIM:613587
HP:0030466	Abnormal full-field electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030466	Abnormal full-field electroretinogram	4308	TRPM1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	57010	CABP4	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	345193	LRIT3	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2916	GRM6	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	5158	PDE6B	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	440435	GPR179	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	6011	GRK1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	778	CACNA1F	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	6010	RHO	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	6295	SAG	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2784	GNB3	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2779	GNAT1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	60506	NYX	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	9371	KIF3B	OMIM:618955
HP:0030466	Abnormal full-field electroretinogram	5193	PEX12	OMIM:266510
HP:0030466	Abnormal full-field electroretinogram	157657	CFAP418	OMIM:617406
HP:0030467	Abnormal pattern electroretinogram	83723	TLCD3B	OMIM:619531
HP:0030467	Abnormal pattern electroretinogram	23093	TTLL5	OMIM:615860
HP:0030468	Abnormal multifocal electroretinogram	94137	RP1L1	OMIM:613587
HP:0030469	Abnormal dark-adapted electroretinogram	24	ABCA4	OMIM:604116
HP:0030469	Abnormal dark-adapted electroretinogram	6247	RS1	OMIM:312700
HP:0030469	Abnormal dark-adapted electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030469	Abnormal dark-adapted electroretinogram	4308	TRPM1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	57010	CABP4	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	345193	LRIT3	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2916	GRM6	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	5158	PDE6B	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	440435	GPR179	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6011	GRK1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	778	CACNA1F	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6010	RHO	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6295	SAG	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2784	GNB3	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2779	GNAT1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	60506	NYX	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	157657	CFAP418	OMIM:617406
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	860	RUNX2	OMIM:119600
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	2737	GLI3	ORPHA:93322
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	650	BMP2	ORPHA:93396
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	8200	GDF5	ORPHA:93396
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	658	BMPR1B	ORPHA:93396
HP:0010037	Aplasia of the 2nd metacarpal	2737	GLI3	ORPHA:93322
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	6926	TBX3	OMIM:181450
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	3930	LBR	OMIM:169400
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	2316	FLNA	OMIM:311300
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	374969	SVBP	OMIM:618569
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	2778	GNAS	ORPHA:79443
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	2778	GNAS	ORPHA:79444
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	24	ABCA4	OMIM:604116
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6247	RS1	OMIM:312700
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	157657	CFAP418	OMIM:617406
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4308	TRPM1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	57010	CABP4	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	345193	LRIT3	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2916	GRM6	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	5158	PDE6B	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	440435	GPR179	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	778	CACNA1F	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6010	RHO	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2784	GNB3	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2779	GNAT1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	60506	NYX	ORPHA:215
HP:0030473	Abnormal light-adapted flicker electroretinogram	5149	PDE6H	OMIM:610024
HP:0030473	Abnormal light-adapted flicker electroretinogram	9371	KIF3B	OMIM:618955
HP:0030473	Abnormal light-adapted flicker electroretinogram	5193	PEX12	OMIM:266510
HP:0030473	Abnormal light-adapted flicker electroretinogram	778	CACNA1F	OMIM:300071
HP:0030474	Undetectable dark-adapted electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	24	ABCA4	OMIM:604116
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6247	RS1	OMIM:312700
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	157657	CFAP418	OMIM:617406
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4308	TRPM1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	57010	CABP4	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	345193	LRIT3	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2916	GRM6	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5158	PDE6B	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	440435	GPR179	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	778	CACNA1F	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6010	RHO	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2784	GNB3	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2779	GNAT1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	60506	NYX	ORPHA:215
HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	778	CACNA1F	OMIM:300071
HP:0010040	Aplasia of the 3rd metacarpal	6926	TBX3	OMIM:181450
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	6926	TBX3	OMIM:181450
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2737	GLI3	ORPHA:672
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2737	GLI3	OMIM:146510
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	64840	PORCN	OMIM:305600
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	55612	FERMT1	ORPHA:2908
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	94005	PIGS	OMIM:618143
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	5593	PRKG2	OMIM:619638
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	3930	LBR	OMIM:169400
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	3930	LBR	OMIM:618019
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	374969	SVBP	OMIM:618569
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2778	GNAS	ORPHA:79443
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2778	GNAS	ORPHA:79444
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2778	GNAS	ORPHA:79445
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	6473	SHOX	OMIM:127300
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	6736	SRY	ORPHA:1772
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2316	FLNA	OMIM:311300
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	79633	FAT4	OMIM:615546
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	8642	DCHS1	OMIM:601390
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	26224	FBXL3	OMIM:606220
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	5727	PTCH1	OMIM:109400
HP:0010043	Aplasia of the 4th metacarpal	6926	TBX3	OMIM:181450
HP:0010043	Aplasia of the 4th metacarpal	2737	GLI3	ORPHA:93322
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	6926	TBX3	OMIM:181450
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	55612	FERMT1	ORPHA:2908
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	650	BMP2	OMIM:617877
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	5593	PRKG2	OMIM:619638
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	3930	LBR	OMIM:169400
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	3930	LBR	OMIM:618019
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	374969	SVBP	OMIM:618569
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	2778	GNAS	ORPHA:79443
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	2778	GNAS	ORPHA:79444
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	2778	GNAS	ORPHA:79445
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	1302	COL11A2	OMIM:215150
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	10847	SRCAP	OMIM:136140
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	860	RUNX2	OMIM:156510
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	3239	HOXD13	ORPHA:93409
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	2316	FLNA	OMIM:311300
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	8823	FGF16	OMIM:309630
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	9241	NOG	OMIM:185800
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	157657	CFAP418	OMIM:617406
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	4308	TRPM1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	57010	CABP4	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	345193	LRIT3	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	93589	CACNA2D4	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2916	GRM6	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5158	PDE6B	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	440435	GPR179	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6011	GRK1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	778	CACNA1F	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6010	RHO	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	9187	SLC24A1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6295	SAG	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2784	GNB3	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2779	GNAT1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	60506	NYX	ORPHA:215
HP:0010051	Deviation of the hallux	7291	TWIST1	ORPHA:794
HP:0010051	Deviation of the hallux	7291	TWIST1	OMIM:101400
HP:0010051	Deviation of the hallux	7291	TWIST1	OMIM:180750
HP:0010051	Deviation of the hallux	2263	FGFR2	ORPHA:794
HP:0010051	Deviation of the hallux	2263	FGFR2	OMIM:101400
HP:0010051	Deviation of the hallux	2261	FGFR3	ORPHA:794
HP:0010051	Deviation of the hallux	658	BMPR1B	OMIM:112600
HP:0010051	Deviation of the hallux	8200	GDF5	OMIM:112600
HP:0010051	Deviation of the hallux	650	BMP2	OMIM:112600
HP:0010051	Deviation of the hallux	7528	YY1	ORPHA:506358
HP:0010051	Deviation of the hallux	7528	YY1	OMIM:617557
HP:0010051	Deviation of the hallux	10262	SF3B4	OMIM:154400
HP:0010051	Deviation of the hallux	8294	H4C9	OMIM:619951
HP:0010051	Deviation of the hallux	3590	IL11RA	OMIM:614188
HP:0010051	Deviation of the hallux	1859	DYRK1A	ORPHA:268261
HP:0010051	Deviation of the hallux	1859	DYRK1A	OMIM:614104
HP:0010051	Deviation of the hallux	25923	ATL3	OMIM:615632
HP:0010051	Deviation of the hallux	6938	TCF12	OMIM:615314
HP:0010051	Deviation of the hallux	8239	USP9X	ORPHA:480880
HP:0010051	Deviation of the hallux	6804	STX1A	ORPHA:904
HP:0010051	Deviation of the hallux	7461	CLIP2	ORPHA:904
HP:0010051	Deviation of the hallux	84277	DNAJC30	ORPHA:904
HP:0010051	Deviation of the hallux	8468	FKBP6	ORPHA:904
HP:0010051	Deviation of the hallux	5982	RFC2	ORPHA:904
HP:0010051	Deviation of the hallux	2969	GTF2I	ORPHA:904
HP:0010051	Deviation of the hallux	3984	LIMK1	ORPHA:904
HP:0010051	Deviation of the hallux	9569	GTF2IRD1	ORPHA:904
HP:0010051	Deviation of the hallux	155382	VPS37D	ORPHA:904
HP:0010051	Deviation of the hallux	155368	METTL27	ORPHA:904
HP:0010051	Deviation of the hallux	114049	BUD23	ORPHA:904
HP:0010051	Deviation of the hallux	7458	EIF4H	ORPHA:904
HP:0010051	Deviation of the hallux	84163	GTF2IRD2	ORPHA:904
HP:0010051	Deviation of the hallux	9275	BCL7B	ORPHA:904
HP:0010051	Deviation of the hallux	26608	TBL2	ORPHA:904
HP:0010051	Deviation of the hallux	653361	NCF1	ORPHA:904
HP:0010051	Deviation of the hallux	135886	TMEM270	ORPHA:904
HP:0010051	Deviation of the hallux	51085	MLXIPL	ORPHA:904
HP:0010051	Deviation of the hallux	51085	MLXIPL	OMIM:194050
HP:0010051	Deviation of the hallux	9031	BAZ1B	ORPHA:904
HP:0010051	Deviation of the hallux	2006	ELN	ORPHA:904
HP:0010051	Deviation of the hallux	2006	ELN	OMIM:194050
HP:0010051	Deviation of the hallux	57122	NUP107	OMIM:618348
HP:0010051	Deviation of the hallux	10283	CWC27	ORPHA:166035
HP:0010051	Deviation of the hallux	5728	PTEN	ORPHA:744
HP:0010051	Deviation of the hallux	207	AKT1	ORPHA:744
HP:0010051	Deviation of the hallux	55027	HEATR3	OMIM:620072
HP:0010051	Deviation of the hallux	9839	ZEB2	ORPHA:261537
HP:0010051	Deviation of the hallux	9839	ZEB2	ORPHA:261552
HP:0010051	Deviation of the hallux	79759	ZNF668	OMIM:620194
HP:0010051	Deviation of the hallux	55315	SLC29A3	OMIM:602782
HP:0010051	Deviation of the hallux	55315	SLC29A3	ORPHA:168569
HP:0010051	Deviation of the hallux	2077	ERF	OMIM:617180
HP:0010051	Deviation of the hallux	6567	SLC16A2	OMIM:300523
HP:0010051	Deviation of the hallux	91179	SCARF2	OMIM:600920
HP:0010051	Deviation of the hallux	4841	NONO	OMIM:300967
HP:0010051	Deviation of the hallux	4841	NONO	ORPHA:466791
HP:0010051	Deviation of the hallux	1278	COL1A2	ORPHA:230851
HP:0010051	Deviation of the hallux	1278	COL1A2	OMIM:617821
HP:0010051	Deviation of the hallux	56098	PCDHGC4	OMIM:619880
HP:0010051	Deviation of the hallux	83737	ITCH	OMIM:613385
HP:0010051	Deviation of the hallux	4621	MYH3	OMIM:618436
HP:0010051	Deviation of the hallux	6662	SOX9	OMIM:114290
HP:0010051	Deviation of the hallux	55780	ERMARD	ORPHA:75857
HP:0010051	Deviation of the hallux	2273	FHL1	OMIM:300280
HP:0010051	Deviation of the hallux	11107	PRDM5	ORPHA:90354
HP:0010051	Deviation of the hallux	84627	ZNF469	ORPHA:90354
HP:0010051	Deviation of the hallux	5932	RBBP8	OMIM:251255
HP:0010051	Deviation of the hallux	90	ACVR1	ORPHA:337
HP:0010051	Deviation of the hallux	90	ACVR1	OMIM:135100
HP:0010051	Deviation of the hallux	126792	B3GALT6	OMIM:271640
HP:0010051	Deviation of the hallux	126792	B3GALT6	ORPHA:536467
HP:0010051	Deviation of the hallux	8626	TP63	OMIM:603543
HP:0010051	Deviation of the hallux	4784	NFIX	OMIM:602535
HP:0010051	Deviation of the hallux	2629	GBA1	ORPHA:2072
HP:0010051	Deviation of the hallux	165	AEBP1	OMIM:618000
HP:0010051	Deviation of the hallux	165	AEBP1	ORPHA:536532
HP:0010051	Deviation of the hallux	7874	USP7	OMIM:616863
HP:0010051	Deviation of the hallux	9469	CHST3	OMIM:245600
HP:0010051	Deviation of the hallux	26229	B3GAT3	OMIM:245600
HP:0010051	Deviation of the hallux	6595	SMARCA2	OMIM:601358
HP:0010051	Deviation of the hallux	6792	CDKL5	ORPHA:505652
HP:0010051	Deviation of the hallux	1277	COL1A1	OMIM:130060
HP:0010051	Deviation of the hallux	23102	TBC1D2B	ORPHA:397973
HP:0010051	Deviation of the hallux	80185	TTI2	OMIM:615541
HP:0010051	Deviation of the hallux	57178	ZMIZ1	OMIM:618659
HP:0010051	Deviation of the hallux	6736	SRY	ORPHA:1772
HP:0010051	Deviation of the hallux	3239	HOXD13	ORPHA:93409
HP:0010051	Deviation of the hallux	526	ATP6V1B2	ORPHA:3473
HP:0010051	Deviation of the hallux	3756	KCNH1	ORPHA:3473
HP:0010051	Deviation of the hallux	3782	KCNN3	ORPHA:3473
HP:0010051	Deviation of the hallux	5696	PSMB8	OMIM:256040
HP:0010051	Deviation of the hallux	2254	FGF9	OMIM:612961
HP:0010051	Deviation of the hallux	2260	FGFR1	OMIM:123150
HP:0010051	Deviation of the hallux	2260	FGFR1	ORPHA:93258
HP:0010051	Deviation of the hallux	3209	HOXA13	OMIM:140000
HP:0010051	Deviation of the hallux	3209	HOXA13	ORPHA:2438
HP:0010051	Deviation of the hallux	50515	CHST11	OMIM:618167
HP:0010051	Deviation of the hallux	1387	CREBBP	ORPHA:353277
HP:0010051	Deviation of the hallux	7994	KAT6A	OMIM:616268
HP:0010051	Deviation of the hallux	2033	EP300	ORPHA:353284
HP:0010051	Deviation of the hallux	26005	C2CD3	ORPHA:434179
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	2260	FGFR1	OMIM:123150
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	2263	FGFR2	OMIM:123150
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	51715	RAB23	OMIM:201000
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	3549	IHH	OMIM:112500
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	9896	FIG4	ORPHA:3472
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	55697	VAC14	ORPHA:3472
HP:0010053	Abnormality of the distal phalanx of the hallux	51776	MAP3K20	ORPHA:488232
HP:0010053	Abnormality of the distal phalanx of the hallux	5744	PTHLH	ORPHA:93387
HP:0010053	Abnormality of the distal phalanx of the hallux	2260	FGFR1	OMIM:123150
HP:0010053	Abnormality of the distal phalanx of the hallux	2263	FGFR2	OMIM:123150
HP:0010053	Abnormality of the distal phalanx of the hallux	3239	HOXD13	OMIM:113200
HP:0010053	Abnormality of the distal phalanx of the hallux	10716	TBR1	ORPHA:1617
HP:0010053	Abnormality of the distal phalanx of the hallux	7291	TWIST1	OMIM:180750
HP:0010053	Abnormality of the distal phalanx of the hallux	124583	CANT1	OMIM:251450
HP:0010053	Abnormality of the distal phalanx of the hallux	9896	FIG4	ORPHA:3472
HP:0010053	Abnormality of the distal phalanx of the hallux	55697	VAC14	ORPHA:3472
HP:0010054	Abnormality of the first metatarsal bone	90	ACVR1	OMIM:135100
HP:0010054	Abnormality of the first metatarsal bone	90	ACVR1	ORPHA:337
HP:0010054	Abnormality of the first metatarsal bone	9896	FIG4	ORPHA:3472
HP:0010054	Abnormality of the first metatarsal bone	55697	VAC14	ORPHA:3472
HP:0010054	Abnormality of the first metatarsal bone	2260	FGFR1	OMIM:123150
HP:0010054	Abnormality of the first metatarsal bone	79989	IFT56	OMIM:619534
HP:0010054	Abnormality of the first metatarsal bone	4750	NEK1	ORPHA:2751
HP:0010054	Abnormality of the first metatarsal bone	124583	CANT1	OMIM:251450
HP:0010054	Abnormality of the first metatarsal bone	10060	ABCC9	OMIM:239850
HP:0010054	Abnormality of the first metatarsal bone	7291	TWIST1	OMIM:101400
HP:0010054	Abnormality of the first metatarsal bone	2263	FGFR2	OMIM:101400
HP:0010054	Abnormality of the first metatarsal bone	2033	EP300	OMIM:613684
HP:0010054	Abnormality of the first metatarsal bone	3209	HOXA13	OMIM:140000
HP:0010054	Abnormality of the first metatarsal bone	3209	HOXA13	ORPHA:2438
HP:0010054	Abnormality of the first metatarsal bone	57020	VPS35L	OMIM:619135
HP:0010057	Abnormal hallux phalanx morphology	90	ACVR1	ORPHA:337
HP:0010057	Abnormal hallux phalanx morphology	10664	CTCF	ORPHA:363611
HP:0010057	Abnormal hallux phalanx morphology	1387	CREBBP	OMIM:180849
HP:0010057	Abnormal hallux phalanx morphology	2033	EP300	OMIM:180849
HP:0010057	Abnormal hallux phalanx morphology	2737	GLI3	OMIM:175700
HP:0010057	Abnormal hallux phalanx morphology	2737	GLI3	ORPHA:380
HP:0010057	Abnormal hallux phalanx morphology	1947	EFNB1	ORPHA:1520
HP:0010057	Abnormal hallux phalanx morphology	64359	NXN	ORPHA:1507
HP:0010057	Abnormal hallux phalanx morphology	4920	ROR2	ORPHA:1507
HP:0010057	Abnormal hallux phalanx morphology	2626	GATA4	ORPHA:251071
HP:0010057	Abnormal hallux phalanx morphology	285362	SUMF1	ORPHA:585
HP:0010057	Abnormal hallux phalanx morphology	650	BMP2	ORPHA:261295
HP:0010057	Abnormal hallux phalanx morphology	23314	SATB2	ORPHA:251019
HP:0010057	Abnormal hallux phalanx morphology	57167	SALL4	ORPHA:959
HP:0010057	Abnormal hallux phalanx morphology	6299	SALL1	ORPHA:857
HP:0010057	Abnormal hallux phalanx morphology	51339	DACT1	ORPHA:857
HP:0010057	Abnormal hallux phalanx morphology	3764	KCNJ8	ORPHA:1517
HP:0010057	Abnormal hallux phalanx morphology	10060	ABCC9	ORPHA:1517
HP:0010057	Abnormal hallux phalanx morphology	2239	GPC4	ORPHA:2662
HP:0010057	Abnormal hallux phalanx morphology	2313	FLI1	ORPHA:2308
HP:0010057	Abnormal hallux phalanx morphology	727857	BHLHA9	OMIM:609432
HP:0010057	Abnormal hallux phalanx morphology	60	ACTB	OMIM:243310
HP:0010057	Abnormal hallux phalanx morphology	64327	LMBR1	OMIM:174500
HP:0010057	Abnormal hallux phalanx morphology	9851	KIAA0753	OMIM:617127
HP:0010057	Abnormal hallux phalanx morphology	374654	KIF7	OMIM:200990
HP:0010057	Abnormal hallux phalanx morphology	219844	HYLS1	OMIM:236680
HP:0010057	Abnormal hallux phalanx morphology	26005	C2CD3	ORPHA:434179
HP:0010057	Abnormal hallux phalanx morphology	51776	MAP3K20	ORPHA:488232
HP:0010057	Abnormal hallux phalanx morphology	5744	PTHLH	ORPHA:93387
HP:0010057	Abnormal hallux phalanx morphology	3239	HOXD13	OMIM:113200
HP:0010057	Abnormal hallux phalanx morphology	10716	TBR1	ORPHA:1617
HP:0010057	Abnormal hallux phalanx morphology	7291	TWIST1	OMIM:180750
HP:0010057	Abnormal hallux phalanx morphology	2260	FGFR1	OMIM:123150
HP:0010057	Abnormal hallux phalanx morphology	2263	FGFR2	OMIM:123150
HP:0010057	Abnormal hallux phalanx morphology	51715	RAB23	OMIM:201000
HP:0010057	Abnormal hallux phalanx morphology	124583	CANT1	OMIM:251450
HP:0010057	Abnormal hallux phalanx morphology	4750	NEK1	ORPHA:2751
HP:0010057	Abnormal hallux phalanx morphology	9896	FIG4	ORPHA:3472
HP:0010057	Abnormal hallux phalanx morphology	55697	VAC14	ORPHA:3472
HP:0010057	Abnormal hallux phalanx morphology	3549	IHH	OMIM:112500
HP:0010057	Abnormal hallux phalanx morphology	6608	SMO	OMIM:601707
HP:0010057	Abnormal hallux phalanx morphology	55764	IFT122	OMIM:218330
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	90	ACVR1	ORPHA:337
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	51776	MAP3K20	ORPHA:488232
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	5744	PTHLH	ORPHA:93387
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3239	HOXD13	ORPHA:93387
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	9896	FIG4	ORPHA:3472
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	55697	VAC14	ORPHA:3472
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3549	IHH	OMIM:112500
HP:0010059	Broad hallux phalanx	10664	CTCF	ORPHA:363611
HP:0010059	Broad hallux phalanx	1387	CREBBP	OMIM:180849
HP:0010059	Broad hallux phalanx	2033	EP300	OMIM:180849
HP:0010059	Broad hallux phalanx	2737	GLI3	OMIM:175700
HP:0010059	Broad hallux phalanx	2737	GLI3	ORPHA:380
HP:0010059	Broad hallux phalanx	1947	EFNB1	ORPHA:1520
HP:0010059	Broad hallux phalanx	64359	NXN	ORPHA:1507
HP:0010059	Broad hallux phalanx	4920	ROR2	ORPHA:1507
HP:0010059	Broad hallux phalanx	2626	GATA4	ORPHA:251071
HP:0010059	Broad hallux phalanx	285362	SUMF1	ORPHA:585
HP:0010059	Broad hallux phalanx	650	BMP2	ORPHA:261295
HP:0010059	Broad hallux phalanx	23314	SATB2	ORPHA:251019
HP:0010059	Broad hallux phalanx	57167	SALL4	ORPHA:959
HP:0010059	Broad hallux phalanx	6299	SALL1	ORPHA:857
HP:0010059	Broad hallux phalanx	51339	DACT1	ORPHA:857
HP:0010059	Broad hallux phalanx	3764	KCNJ8	ORPHA:1517
HP:0010059	Broad hallux phalanx	10060	ABCC9	ORPHA:1517
HP:0010059	Broad hallux phalanx	2239	GPC4	ORPHA:2662
HP:0010059	Broad hallux phalanx	2313	FLI1	ORPHA:2308
HP:0010059	Broad hallux phalanx	2260	FGFR1	OMIM:123150
HP:0010059	Broad hallux phalanx	2263	FGFR2	OMIM:123150
HP:0010059	Broad hallux phalanx	3239	HOXD13	OMIM:113200
HP:0007000	Morning myoclonic jerks	114327	EFHC1	OMIM:254770
HP:0007000	Morning myoclonic jerks	114327	EFHC1	ORPHA:307
HP:0007000	Morning myoclonic jerks	2563	GABRD	ORPHA:307
HP:0007000	Morning myoclonic jerks	1181	CLCN2	ORPHA:307
HP:0007000	Morning myoclonic jerks	2554	GABRA1	ORPHA:307
HP:0007000	Morning myoclonic jerks	3786	KCNQ3	ORPHA:307
HP:0007000	Morning myoclonic jerks	22858	CILK1	ORPHA:307
HP:0007000	Morning myoclonic jerks	8629	JRK	ORPHA:307
HP:0007000	Morning myoclonic jerks	785	CACNB4	ORPHA:307
HP:0007000	Morning myoclonic jerks	785	CACNB4	OMIM:607682
HP:0007000	Morning myoclonic jerks	144165	PRICKLE1	ORPHA:308
HP:0007000	Morning myoclonic jerks	1476	CSTB	ORPHA:308
HP:0007000	Morning myoclonic jerks	950	SCARB2	ORPHA:308
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	283989	TSEN54	OMIM:225753
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	10528	NOP56	ORPHA:276198
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	8913	CACNA1G	OMIM:616795
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	26278	SACS	OMIM:270550
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	6310	ATXN1	ORPHA:98755
HP:0007002	Motor axonal neuropathy	6904	TBCD	ORPHA:496641
HP:0007002	Motor axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0007002	Motor axonal neuropathy	9150	CTDP1	ORPHA:48431
HP:0007002	Motor axonal neuropathy	5393	EXOSC9	OMIM:618065
HP:0007002	Motor axonal neuropathy	64856	VWA1	OMIM:619216
HP:0007002	Motor axonal neuropathy	3839	KPNA3	OMIM:620106
HP:0007002	Motor axonal neuropathy	29926	GMPPA	ORPHA:869
HP:0007002	Motor axonal neuropathy	60684	TRAPPC11	ORPHA:869
HP:0007002	Motor axonal neuropathy	8086	AAAS	ORPHA:869
HP:0007002	Motor axonal neuropathy	8086	AAAS	OMIM:231550
HP:0007002	Motor axonal neuropathy	9990	SLC12A6	OMIM:620068
HP:0007002	Motor axonal neuropathy	64837	KLC2	OMIM:609541
HP:0007002	Motor axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0007002	Motor axonal neuropathy	8139	GAN	OMIM:256850
HP:0007002	Motor axonal neuropathy	57599	WDR48	ORPHA:401800
HP:0007002	Motor axonal neuropathy	6687	SPG7	ORPHA:35689
HP:0007002	Motor axonal neuropathy	7504	XK	OMIM:300842
HP:0007002	Motor axonal neuropathy	10908	PNPLA6	ORPHA:139480
HP:0007002	Motor axonal neuropathy	83636	C19orf12	OMIM:614298
HP:0007002	Motor axonal neuropathy	23287	AGTPBP1	OMIM:618276
HP:0007002	Motor axonal neuropathy	80347	COASY	OMIM:615643
HP:0007002	Motor axonal neuropathy	51305	KCNK9	ORPHA:166108
HP:0007002	Motor axonal neuropathy	7453	WARS1	OMIM:617721
HP:0007002	Motor axonal neuropathy	5192	PEX10	OMIM:614871
HP:0007002	Motor axonal neuropathy	5192	PEX10	ORPHA:247815
HP:0007002	Motor axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0007002	Motor axonal neuropathy	22880	MORC2	ORPHA:466768
HP:0007002	Motor axonal neuropathy	3035	HARS1	ORPHA:488333
HP:0007002	Motor axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0007002	Motor axonal neuropathy	3145	HMBS	ORPHA:79276
HP:0007002	Motor axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0007002	Motor axonal neuropathy	7415	VCP	ORPHA:52430
HP:0007002	Motor axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0007002	Motor axonal neuropathy	4976	OPA1	ORPHA:1215
HP:0007002	Motor axonal neuropathy	10558	SPTLC1	ORPHA:36386
HP:0007002	Motor axonal neuropathy	25923	ATL3	ORPHA:36386
HP:0007002	Motor axonal neuropathy	9517	SPTLC2	ORPHA:36386
HP:0007002	Motor axonal neuropathy	51062	ATL1	ORPHA:36386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3476	IGBP1	OMIM:300472
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3476	IGBP1	ORPHA:52055
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23141	ANKLE2	OMIM:616681
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1024	CDK8	OMIM:618748
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5361	PLXNA1	OMIM:619955
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10992	SF3B2	OMIM:164210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2731	GLDC	OMIM:605899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	275	AMT	OMIM:605899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57560	IFT80	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57539	WDR35	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2073	ERCC5	OMIM:616570
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3020	H3-3A	OMIM:619720
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	OMIM:617542
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	OMIM:157600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6576	SLC25A1	OMIM:618197
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4867	NPHP1	ORPHA:220497
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22858	CILK1	OMIM:612651
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	OMIM:615249
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	OMIM:269160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	OMIM:157170
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	OMIM:269160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	OMIM:610828
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	OMIM:614226
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	ORPHA:87
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	OMIM:123790
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	OMIM:101200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56992	KIF15	ORPHA:261323
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1020	CDK5	OMIM:616342
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23522	KAT6B	OMIM:606170
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23522	KAT6B	ORPHA:85201
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5173	PDYN	OMIM:610245
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55681	SCYL2	OMIM:618766
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2018	EMX2	OMIM:269160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	546	ATRX	ORPHA:847
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6597	SMARCA4	OMIM:614609
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9401	RECQL4	OMIM:218600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4524	MTHFR	ORPHA:563612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57216	VANGL2	ORPHA:563612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55697	VAC14	ORPHA:3472
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10815	CPLX1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10815	CPLX1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7469	NELFA	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1487	CTBP1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1487	CTBP1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3954	LETM1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3954	LETM1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7468	NSD2	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7468	NSD2	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22872	SEC31A	OMIM:618651
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51021	MRPS16	OMIM:610498
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23007	PLCH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6602	SMARCD1	OMIM:618779
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55623	THUMPD1	OMIM:619989
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	53834	FGFRL1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2074	ERCC6	OMIM:214150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	129563	DIS3L2	OMIM:267000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1182	CLCN3	OMIM:619512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23512	SUZ12	OMIM:618786
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6608	SMO	OMIM:601707
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6608	SMO	ORPHA:1553
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3052	HCCS	OMIM:309801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3052	HCCS	ORPHA:2556
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	OMIM:309801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	OMIM:300952
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5626	PROP1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5626	PROP1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89884	LHX4	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89884	LHX4	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8022	LHX3	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5449	POU1F1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5449	POU1F1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	OMIM:182230
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5828	PEX2	OMIM:614866
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2563	GABRD	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23013	SPEN	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23013	SPEN	OMIM:619312
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8510	MMP23B	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7798	LUZP1	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6497	SKI	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10630	PDPN	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3339	HSPG2	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10277	UBE4B	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63976	PRDM16	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54897	CASZ1	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6558	SLC12A2	OMIM:619083
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3170	FOXA2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83479	DDX59	ORPHA:2919
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83479	DDX59	OMIM:174300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11041	B4GAT1	OMIM:615287
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11041	B4GAT1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2271	FH	OMIM:606812
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57724	EPG5	OMIM:242840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57724	EPG5	ORPHA:1493
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63895	PIEZO2	OMIM:248700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2239	GPC4	ORPHA:373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2239	GPC4	OMIM:312870
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2719	GPC3	ORPHA:373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2719	GPC3	OMIM:312870
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	197258	FCSK	OMIM:618324
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10463	SLC30A9	OMIM:617595
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2678	GGT1	OMIM:231950
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64919	BCL11B	OMIM:617237
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11023	VAX1	OMIM:614402
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51645	PPIL1	OMIM:619301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51362	CDC40	OMIM:619302
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80199	FUZ	ORPHA:1136
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9990	SLC12A6	OMIM:218000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	164	AP1G1	OMIM:619548
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1801	DPH1	ORPHA:459061
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5888	RAD51	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10126	DNAL4	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9423	NTN1	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56896	DPYSL5	OMIM:619435
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2879	GPX4	ORPHA:93317
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5396	PRRX1	OMIM:202650
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5396	PRRX1	ORPHA:990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51807	TUBA8	ORPHA:250972
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7545	ZIC1	OMIM:616602
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7545	ZIC1	OMIM:618736
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7473	WNT3	ORPHA:3301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340419	RSPO2	ORPHA:3301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1436	CSF1R	OMIM:618476
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23030	KDM4B	OMIM:619320
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3313	HSPA9	OMIM:616854
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1806	DPYD	OMIM:274270
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55215	FANCI	OMIM:609053
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27185	DISC1	ORPHA:171703
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8320	EOMES	ORPHA:171703
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55997	CFC1	OMIM:605376
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84892	POMGNT2	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1282	COL4A1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10329	RXYLT1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63925	ZNF335	OMIM:615095
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2657	GDF1	OMIM:208530
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85358	SHANK3	ORPHA:48652
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6659	SOX4	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8289	ARID1A	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5977	DPF2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6601	SMARCC2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	196528	ARID2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6664	SOX11	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5831	PYCR1	OMIM:612940
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1063	CENPF	OMIM:243605
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51608	GET4	OMIM:620200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1000	CDH2	OMIM:618929
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2009	EML1	OMIM:600348
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5395	PMS2	OMIM:619101
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2313	FLI1	ORPHA:2308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60	ACTB	OMIM:243310
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64840	PORCN	OMIM:305600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9791	PTDSS1	OMIM:151050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	71	ACTG1	OMIM:614583
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8092	ALX1	ORPHA:306542
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28962	OSTM1	ORPHA:85179
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1387	CREBBP	OMIM:180849
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2033	EP300	OMIM:180849
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374879	ZNF699	OMIM:619488
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55640	FLVCR2	OMIM:225790
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91875	TTC5	OMIM:619244
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6299	SALL1	ORPHA:857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51339	DACT1	ORPHA:857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113246	C12orf57	OMIM:218340
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1759	DNM1	OMIM:620352
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1376	CPT2	OMIM:608836
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1376	CPT2	ORPHA:228308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84823	LMNB2	OMIM:616540
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4781	NFIB	OMIM:618286
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8777	MPDZ	OMIM:615219
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4292	MLH1	OMIM:276300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22995	CEP152	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	163786	SASS6	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4176	MCM7	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80254	CEP63	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29081	METTL5	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79648	MCPH1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1911	PHC1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6884	TAF13	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9662	CEP135	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55835	CENPJ	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57082	KNL1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1021	CDK6	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	18	ABAT	OMIM:613163
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8449	DHX16	OMIM:618733
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128674	PROKR2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2615	LRRC32	OMIM:619074
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10128	LRPPRC	OMIM:220111
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10785	WDR4	OMIM:618346
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6938	TCF12	OMIM:615314
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11198	SUPT16H	OMIM:619480
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	136647	MPLKIP	OMIM:234050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10733	PLK4	OMIM:616171
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1062	CENPE	OMIM:616051
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4190	MDH1	OMIM:618959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	139285	AMER1	OMIM:300373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7143	TNR	OMIM:619653
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4123	MAN2C1	OMIM:619775
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54916	TMEM260	OMIM:617478
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2068	ERCC2	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7737	RNF113A	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6897	TARS1	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2071	ERCC3	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64432	MRPS25	OMIM:619025
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10524	KAT5	OMIM:619103
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2137	EXTL3	ORPHA:508533
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7528	YY1	ORPHA:506358
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8036	SHOC2	OMIM:607721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23394	ADNP	ORPHA:404448
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:614381
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:607694
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10617	STAMBP	OMIM:614261
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26235	FBXL4	OMIM:615471
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	104	ADARB1	OMIM:618862
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23019	CNOT1	OMIM:618500
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9853	RUSC2	OMIM:617773
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55823	VPS11	OMIM:616683
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55823	VPS11	ORPHA:466934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	343450	KCNT2	OMIM:617771
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:615473
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:617493
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6873	TAF2	OMIM:615599
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6873	TAF2	ORPHA:397951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1947	EFNB1	ORPHA:1520
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1947	EFNB1	OMIM:304110
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7360	UGP2	OMIM:618744
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81857	MED25	OMIM:616449
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81857	MED25	ORPHA:464738
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84942	WDR73	OMIM:251300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10159	ATP6AP2	ORPHA:93952
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	116931	MED12L	OMIM:618872
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10300	KATNB1	OMIM:616212
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10300	KATNB1	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80816	ASXL3	OMIM:615485
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6536	SLC6A9	OMIM:617301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51741	WWOX	OMIM:616211
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5917	RARS1	ORPHA:438114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5917	RARS1	OMIM:616140
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27245	AHDC1	ORPHA:412069
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27245	AHDC1	OMIM:615829
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	166378	AFG2A	OMIM:616577
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	375387	NRROS	OMIM:618875
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:614039
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10381	TUBB3	ORPHA:300570
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:600638
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284403	WDR62	OMIM:604317
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363958
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284058	KANSL1	OMIM:610443
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363965
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7343	UBTF	OMIM:617672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7343	UBTF	ORPHA:500180
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6844	VAMP2	OMIM:618760
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79029	AFG2B	OMIM:619616
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11232	POLG2	OMIM:618528
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1183	CLCN4	ORPHA:485350
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1183	CLCN4	OMIM:300114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83480	PUS3	ORPHA:488627
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6872	TAF1	ORPHA:480907
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6872	TAF1	OMIM:300966
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	171023	ASXL1	ORPHA:97297
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	171023	ASXL1	OMIM:605039
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4763	NF1	ORPHA:363700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1656	DDX6	OMIM:618653
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25930	PTPN23	OMIM:618890
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23327	NEDD4L	OMIM:617201
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	833	CARS1	OMIM:618891
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54872	PIGG	ORPHA:488635
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54872	PIGG	OMIM:616917
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80208	SPG11	ORPHA:2822
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80208	SPG11	OMIM:604360
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80208	SPG11	OMIM:616668
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93627	TBCK	ORPHA:488632
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93627	TBCK	OMIM:616900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79731	NARS2	OMIM:616239
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	OMIM:617207
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	OMIM:241410
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	ORPHA:496756
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8642	DCHS1	OMIM:601390
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8642	DCHS1	ORPHA:314679
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26040	SETBP1	OMIM:269150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26040	SETBP1	ORPHA:798
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1499	CTNNB1	OMIM:615075
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113612	CYP2U1	OMIM:615030
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2261	FGFR3	OMIM:616482
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2261	FGFR3	ORPHA:85165
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9895	TECPR2	OMIM:615031
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9895	TECPR2	ORPHA:320385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10717	AP4B1	OMIM:614066
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10717	AP4B1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84879	MFSD2A	OMIM:616486
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	OMIM:615035
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:320375
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:254930
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84504	NKX6-2	ORPHA:527497
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23126	POGZ	OMIM:616364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23126	POGZ	ORPHA:468678
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55773	TBC1D23	OMIM:617695
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8558	CDK10	OMIM:617694
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23259	DDHD2	OMIM:615033
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23259	DDHD2	ORPHA:320380
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:217385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3098	HK1	OMIM:618547
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:464311
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:268261
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85365	ALG2	ORPHA:79326
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26137	ZBTB20	OMIM:259050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9533	POLR1C	OMIM:616494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1615	DARS1	OMIM:615281
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3800	KIF5C	OMIM:615282
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2232	FDXR	ORPHA:543470
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51098	IFT52	OMIM:617102
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4849	CNOT3	OMIM:618672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6506	SLC1A2	OMIM:617105
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25973	PARS2	OMIM:618437
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79971	WLS	OMIM:619648
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2558	GABRA5	OMIM:618559
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79633	FAT4	ORPHA:314679
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79633	FAT4	OMIM:615546
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7841	MOGS	ORPHA:79330
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7841	MOGS	OMIM:606056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4208	MEF2C	ORPHA:228384
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3798	KIF5A	OMIM:617235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8565	YARS1	OMIM:619418
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51227	PIGP	OMIM:617599
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51227	PIGP	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3785	KCNQ2	OMIM:613720
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23499	MACF1	OMIM:618325
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374969	SVBP	OMIM:618569
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51062	ATL1	OMIM:182600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10195	ALG3	ORPHA:79321
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79087	ALG12	ORPHA:79324
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79053	ALG8	ORPHA:79325
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9896	FIG4	OMIM:216340
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3897	L1CAM	OMIM:304100
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8295	TRRAP	OMIM:618454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9742	IFT140	OMIM:266920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7040	TGFB1	OMIM:618213
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58497	PRUNE1	OMIM:617481
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8621	CDK13	OMIM:617360
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5881	RAC3	OMIM:618577
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27429	HTRA2	OMIM:617248
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51013	EXOSC1	OMIM:619304
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55770	EXOC2	OMIM:619306
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6792	CDKL5	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3736	KCNA1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9091	PIGQ	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81603	TRIM8	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:208447
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:617820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:614254
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	150094	SIK1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8573	CASK	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23312	DMXL2	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2917	GRM7	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2917	GRM7	OMIM:618922
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	170302	ARX	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11284	PNKP	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11284	PNKP	OMIM:613402
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6326	SCN2A	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6324	SCN1B	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4761	NEUROD2	OMIM:618374
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9361	LONP1	OMIM:600373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508498
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508488
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9488	PIGB	OMIM:618580
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3912	LAMB1	OMIM:615191
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84706	GPT2	OMIM:616281
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84706	GPT2	ORPHA:477673
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4558	MT-TF	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4572	MT-TQ	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4512	MT-CO1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4513	MT-CO2	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4514	MT-CO3	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4578	MT-TW	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4540	MT-ND5	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4541	MT-ND6	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4535	MT-ND1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4538	MT-ND4	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4567	MT-TL1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4574	MT-TS1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4575	MT-TS2	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4564	MT-TH	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79876	UBA5	OMIM:617132
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	160418	TMTC3	OMIM:617255
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2187	FANCB	OMIM:300514
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85476	GFM1	OMIM:609060
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618468
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618470
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2671	GFER	ORPHA:330054
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1605	DAG1	ORPHA:370997
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1605	DAG1	OMIM:616538
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11160	ERLIN2	OMIM:611225
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56945	MRPS22	OMIM:611719
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128869	PIGU	OMIM:618590
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5631	PRPS1	ORPHA:423479
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7707	ZNF148	OMIM:617260
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2972	BRF1	ORPHA:444072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1349	COX7B	OMIM:300887
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5515	PPP2CA	OMIM:618354
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55610	VPS50	OMIM:619685
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4695	NDUFA2	OMIM:618235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6651	SON	OMIM:617140
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6651	SON	ORPHA:500150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5649	RELN	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54820	NDE1	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55262	TRAPPC14	OMIM:618351
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1654	DDX3X	ORPHA:457260
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1654	DDX3X	OMIM:300958
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5660	PSAP	OMIM:611721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26128	KIFBP	ORPHA:66629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26128	KIFBP	OMIM:609460
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7846	TUBA1A	OMIM:611603
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9179	AP4M1	OMIM:612936
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9179	AP4M1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	ORPHA:370968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	OMIM:613156
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9215	LARGE1	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9215	LARGE1	ORPHA:370968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	ORPHA:370968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	ORPHA:370968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	OMIM:613155
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6904	TBCD	ORPHA:496641
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6904	TBCD	OMIM:617193
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29925	GMPPB	ORPHA:370968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7337	UBE3A	ORPHA:98794
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4948	OCA2	ORPHA:98794
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	473	RERE	ORPHA:494344
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	473	RERE	OMIM:616975
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4784	NFIX	OMIM:602535
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4784	NFIX	ORPHA:420179
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4784	NFIX	OMIM:614753
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84340	GFM2	ORPHA:565624
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22796	COG2	OMIM:617395
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22796	COG2	ORPHA:435934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2560	GABRB1	OMIM:617153
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10588	MTHFS	OMIM:618367
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8120	AP3B2	OMIM:617276
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7965	AIMP2	OMIM:618006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	201163	FLCN	OMIM:610883
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29920	PYCR2	ORPHA:481152
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29920	PYCR2	OMIM:616420
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7703	PCGF2	OMIM:618371
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29968	PSAT1	ORPHA:284417
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	191	AHCY	ORPHA:88618
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51324	SPG21	ORPHA:101001
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7161	TP73	OMIM:619466
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11342	RNF13	OMIM:618379
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11342	RNF13	ORPHA:544503
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9758	FRMPD4	OMIM:300983
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5277	PIGA	OMIM:300868
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1822	ATN1	OMIM:618494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:618012
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:617403
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4990	SIX6	OMIM:206900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6657	SOX2	OMIM:206900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8883	NAE1	OMIM:620210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80185	TTI2	ORPHA:391307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50801	KCNK4	OMIM:618381
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11340	EXOSC8	OMIM:616081
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84265	POLR3GL	OMIM:619234
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2892	GRIA3	ORPHA:364028
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	348180	CTU2	OMIM:618142
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51091	SEPSECS	OMIM:613811
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51360	MBTPS2	OMIM:308205
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2571	GAD1	OMIM:619124
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2222	FDFT1	OMIM:618156
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	203068	TUBB	OMIM:156610
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	90522	YIF1B	OMIM:619125
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374354	NHLRC2	OMIM:618278
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8239	USP9X	OMIM:300968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8239	USP9X	ORPHA:480880
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6472	SHMT2	OMIM:619121
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:171629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:329308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	OMIM:612319
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9373	PLAA	ORPHA:521426
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9373	PLAA	OMIM:617527
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8911	CACNA1I	OMIM:620114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3090	HIC1	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6748	SSR4	ORPHA:370927
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6748	SSR4	OMIM:300934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2177	FANCD2	OMIM:227646
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2629	GBA1	ORPHA:2072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54187	NANS	OMIM:610442
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55005	RMND1	OMIM:614922
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3295	HSD17B4	OMIM:261515
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	124454	EARS2	OMIM:614924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10079	ATP9A	OMIM:620242
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23299	BICD2	OMIM:618291
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64802	NMNAT1	OMIM:619260
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	129285	PPP1R21	OMIM:619383
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	114034	TOE1	ORPHA:284339
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	114034	TOE1	OMIM:614969
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9562	MINPP1	ORPHA:284339
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2316	FLNA	ORPHA:555877
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2316	FLNA	OMIM:300049
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84842	HPDL	OMIM:619026
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1496	CTNNA2	OMIM:618174
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	221927	BRAT1	OMIM:618056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27445	PCLO	OMIM:608027
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3480	IGF1R	OMIM:270450
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10682	EBP	ORPHA:401973
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6095	RORA	OMIM:618060
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11113	CIT	OMIM:617090
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8450	CUL4B	OMIM:300354
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9131	AIFM1	OMIM:300232
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9131	AIFM1	ORPHA:83629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6535	SLC6A8	OMIM:300352
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7355	SLC35A2	OMIM:300896
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347734	SLC35B2	OMIM:620269
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	781	CACNA2D1	OMIM:620149
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	132158	GLYCTK	ORPHA:941
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	OMIM:235730
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261552
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261537
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57176	VARS2	OMIM:615917
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80222	TARS2	OMIM:615918
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54209	TREM2	OMIM:618193
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200205	IBA57	ORPHA:468661
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200205	IBA57	OMIM:615330
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80232	WDR26	ORPHA:513456
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80232	WDR26	OMIM:617616
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89910	UBE3B	OMIM:244450
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80055	PGAP1	OMIM:615802
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9915	ARNT2	OMIM:615926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57582	KCNT1	OMIM:614959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55780	ERMARD	ORPHA:75857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10978	CLP1	OMIM:615803
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26153	KIF26A	OMIM:620156
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615809
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615686
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25839	COG4	ORPHA:263501
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25839	COG4	OMIM:613489
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57492	ARID1B	OMIM:135900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5119	CHMP1A	OMIM:614961
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55157	DARS2	ORPHA:137898
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10000	AKT3	OMIM:615937
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11212	PLPBP	ORPHA:3006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57531	HACE1	ORPHA:464282
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57531	HACE1	OMIM:616756
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80856	LNPK	OMIM:618090
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26278	SACS	ORPHA:98
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1641	DCX	ORPHA:2148
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4338	MOCS2	OMIM:252160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2752	GLUL	OMIM:610015
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25942	SIN3A	OMIM:613406
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9907	AP5Z1	OMIM:613647
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9907	AP5Z1	ORPHA:306511
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54496	PRMT7	ORPHA:464288
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23265	EXOC7	OMIM:619072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9653	HS2ST1	OMIM:619194
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7025	NR2F1	ORPHA:401777
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1267	CNP	OMIM:619071
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	149371	EXOC8	OMIM:619076
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57498	KIDINS220	ORPHA:521390
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56006	SMG9	OMIM:616920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27286	SRPX2	ORPHA:163721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285175	UNC80	OMIM:616801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285175	UNC80	ORPHA:371364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79753	SNIP1	OMIM:614501
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54499	TMCO1	OMIM:213980
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54499	TMCO1	ORPHA:1394
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11128	POLR3A	ORPHA:447896
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11128	POLR3A	OMIM:607694
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10236	HNRNPR	OMIM:620073
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79813	EHMT1	ORPHA:261652
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58508	KMT2C	ORPHA:261652
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4094	MAF	ORPHA:1272
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5591	PRKDC	OMIM:615966
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6605	SMARCE1	OMIM:616938
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51244	CCDC174	OMIM:616816
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51322	WAC	ORPHA:284169
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51322	WAC	OMIM:616708
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4677	NARS1	OMIM:619091
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10735	STAG2	ORPHA:521258
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	729920	CRPPA	OMIM:614643
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55275	VPS53	OMIM:615851
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9928	KIF14	OMIM:617914
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57704	GBA2	OMIM:614409
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200403	VWA3B	OMIM:616948
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85021	REPS1	OMIM:617916
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85440	DOCK7	OMIM:615859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85440	DOCK7	ORPHA:411986
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6509	SLC1A4	ORPHA:447997
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6509	SLC1A4	OMIM:616657
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9276	COPB2	OMIM:617800
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7407	VARS1	OMIM:617802
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57165	GJC2	OMIM:613206
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25939	SAMHD1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	103	ADAR	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11277	TREX1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	134353	LSM11	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64135	IFIH1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7490	WT1	OMIM:106210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5080	PAX6	OMIM:106210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10075	HUWE1	OMIM:309590
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91949	COG7	OMIM:608779
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8243	SMC1A	OMIM:301044
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60529	ALX4	OMIM:613451
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	124997	WDR81	OMIM:610185
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2290	FOXG1	OMIM:613454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23028	KDM1A	OMIM:616728
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23028	KDM1A	ORPHA:477993
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6328	SCN3A	OMIM:617938
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8050	PDHX	ORPHA:255182
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55593	OTUD5	OMIM:301056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6658	SOX3	ORPHA:67045
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79587	CARS2	ORPHA:477774
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79587	CARS2	OMIM:616672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5859	QARS1	OMIM:615760
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113179	ADAT3	ORPHA:363528
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80347	COASY	OMIM:615643
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23291	FBXW11	OMIM:618914
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7280	TUBB2A	OMIM:615763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	998	CDC42	OMIM:616737
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	998	CDC42	ORPHA:487796
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50	ACO2	OMIM:614559
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3097	HIVEP2	OMIM:616977
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10982	MAPRE2	OMIM:616734
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51218	GLRX5	OMIM:616859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5053	PAH	ORPHA:2209
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4131	MAP1B	OMIM:618918
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5925	RB1	ORPHA:1587
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23511	NUP188	OMIM:618804
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6709	SPTAN1	OMIM:613477
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3796	KIF2A	OMIM:615411
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2058	EPRS1	OMIM:617951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27315	PGAP2	OMIM:614207
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80746	TSEN2	OMIM:612389
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80746	TSEN2	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57511	COG6	OMIM:614576
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23065	EMC1	OMIM:616875
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54664	TMEM106B	OMIM:617964
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1729	DIAPH1	OMIM:616632
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2475	MTOR	OMIM:616638
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9419	CRIPT	OMIM:615789
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26227	PHGDH	ORPHA:79351
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55644	OSGEP	OMIM:617729
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7874	USP7	ORPHA:500055
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340075	ARSI	ORPHA:401815
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6812	STXBP1	OMIM:612164
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4337	MOCS1	OMIM:252150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29957	SLC25A24	OMIM:612289
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56270	WDR45B	OMIM:617977
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	259232	NALCN	ORPHA:371364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25914	RTTN	ORPHA:468631
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23556	PIGN	ORPHA:280633
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5162	PDHB	ORPHA:255138
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51124	IER3IP1	OMIM:614231
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	283989	TSEN54	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	116461	TSEN15	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79042	TSEN34	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2893	GRIA4	OMIM:617864
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55704	CCDC88A	OMIM:617507
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54676	GTPBP2	OMIM:617988
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5296	PIK3R2	OMIM:603387
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	259266	ASPM	OMIM:608716
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11154	AP4S1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23431	AP4E1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4841	NONO	ORPHA:466791
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4047	LSS	OMIM:618840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5879	RAC1	OMIM:617751
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5879	RAC1	ORPHA:500159
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	440	ASNS	OMIM:615574
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5455	POU3F3	OMIM:618604
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	133686	NADK2	ORPHA:431361
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	738	VPS51	OMIM:618606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5116	PCNT	ORPHA:2637
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2806	GOT2	OMIM:618721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5430	POLR2A	OMIM:618603
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51663	ZFR	ORPHA:401840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1468	SLC25A10	OMIM:618972
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1968	EIF2S3	OMIM:300148
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5307	PITX1	OMIM:119800
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51075	TMX2	OMIM:618730
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8884	SLC5A6	OMIM:618973
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7305	TYROBP	OMIM:221770
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55331	ACER3	OMIM:617762
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22978	NT5C2	OMIM:613162
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4281	MID1	ORPHA:2745
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4858	NOVA2	OMIM:618859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84148	KAT8	OMIM:618974
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55753	OGDHL	OMIM:619701
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58499	ZNF462	OMIM:618619
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79600	TCTN1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79600	TCTN1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79848	CSPP1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79848	CSPP1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51684	SUFU	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54806	AHI1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	153241	CEP120	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65250	CPLANE1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65250	CPLANE1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200894	ARL13B	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9731	CEP104	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	219844	HYLS1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23247	KATNIP	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	219854	TMEM218	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54903	MKS1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54903	MKS1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	95681	CEP41	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9786	KIAA0586	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56623	INPP5E	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56623	INPP5E	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79867	TCTN2	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79867	TCTN2	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80776	B9D2	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80776	B9D2	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10464	PIBF1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80210	ARMC9	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23116	TOGARAM1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25776	CBY1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27077	B9D1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27077	B9D1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	403	ARL3	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1718	DHCR24	OMIM:602398
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3981	LIG4	ORPHA:235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54888	NSUN2	ORPHA:235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2218	FKTN	ORPHA:272
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27238	GPKOW	ORPHA:2570
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6197	RPS6KA3	ORPHA:192
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3265	HRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3845	KRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4893	NRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64327	LMBR1	ORPHA:2378
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	673	BRAF	OMIM:115150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	95	ACY1	ORPHA:137754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	145173	B3GLCT	ORPHA:709
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55624	POMGNT1	OMIM:253280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6925	TCF4	ORPHA:2896
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64324	NSD1	ORPHA:821
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29072	SETD2	ORPHA:821
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10297	APC2	ORPHA:821
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	154881	KCTD7	ORPHA:263516
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4036	LRP2	OMIM:222448
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4036	LRP2	ORPHA:2143
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2737	GLI3	ORPHA:36
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:36
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	OMIM:200990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51633	OTUD6B	ORPHA:505237
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4774	NFIA	ORPHA:401986
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26275	HIBCH	ORPHA:88639
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54968	TMEM70	ORPHA:1194
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51715	RAB23	OMIM:201000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84162	BLTP1	OMIM:617822
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2314	FLII	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23096	IQSEC2	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10743	RAI1	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10522	DEAF1	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1717	DHCR7	ORPHA:818
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10472	ZBTB18	ORPHA:36367
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51114	ZDHHC9	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65109	UPF3B	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9968	MED12	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9968	MED12	ORPHA:93932
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5189	PEX1	OMIM:214100
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55691	FRMD4A	OMIM:616819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10479	SLC9A6	ORPHA:85278
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10225	CD96	ORPHA:1308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	100151683	RNU4ATAC	ORPHA:1824
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79583	TMEM231	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79583	TMEM231	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51524	TMEM138	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23090	ZNF423	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80184	CEP290	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80184	CEP290	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22930	RAB3GAP1	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25782	RAB3GAP2	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22931	RAB18	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128637	TBC1D20	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10210	TOPORS	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9851	KIAA0753	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26123	TCTN3	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26123	TCTN3	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5147	PDE6D	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8481	OFD1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	317662	FAM149B1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8260	NAA10	ORPHA:568
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54880	BCOR	ORPHA:568
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2260	FGFR1	ORPHA:2117
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84314	TMEM107	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57096	RPGRIP1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79770	TXNDC15	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23322	RPGRIP1L	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23322	RPGRIP1L	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	257	ALX3	ORPHA:391474
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	652	BMP4	OMIM:607932
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9184	BUB3	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	699	BUB1	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9702	CEP57	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9319	TRIP13	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	701	BUB1B	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4001	LMNB1	ORPHA:99027
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29980	DONSON	OMIM:251230
HP:0007006	Dorsal column degeneration	6310	ATXN1	OMIM:164400
HP:0007006	Dorsal column degeneration	215	ABCD1	ORPHA:139399
HP:0007007	Cavitation of the basal ganglia	2512	FTL	OMIM:606159
HP:0007193	Bilateral tonic-clonic seizure on awakening	1181	CLCN2	OMIM:607628
HP:0007193	Bilateral tonic-clonic seizure on awakening	114327	EFHC1	OMIM:607631
HP:0007193	Bilateral tonic-clonic seizure on awakening	785	CACNB4	OMIM:607682
HP:0007009	Central nervous system degeneration	51099	ABHD5	ORPHA:98907
HP:0007009	Central nervous system degeneration	5621	PRNP	ORPHA:282166
HP:0007009	Central nervous system degeneration	7167	TPI1	ORPHA:868
HP:0007009	Central nervous system degeneration	11277	TREX1	OMIM:192315
HP:0030493	Abnormality of foveal pigmentation	146167	SLC38A8	OMIM:609218
HP:0030493	Abnormality of foveal pigmentation	3617	IMPG1	OMIM:153870
HP:0030493	Abnormality of foveal pigmentation	1495	CTNNA1	OMIM:608970
HP:0030493	Abnormality of foveal pigmentation	9364	RAB28	OMIM:615374
HP:0030493	Abnormality of foveal pigmentation	348	APOE	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	83872	HMCN1	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	3078	CFHR1	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	10878	CFHR3	OMIM:603075
HP:0030491	Choriocapillaris atrophy	94	ACVRL1	OMIM:600376
HP:0030491	Choriocapillaris atrophy	285440	CYP4V2	ORPHA:41751
HP:0030491	Choriocapillaris atrophy	7078	TIMP3	ORPHA:59181
HP:0030491	Choriocapillaris atrophy	23418	CRB1	OMIM:613835
HP:0030491	Choriocapillaris atrophy	3000	GUCY2D	OMIM:215500
HP:0030491	Choriocapillaris atrophy	3000	GUCY2D	ORPHA:75377
HP:0030491	Choriocapillaris atrophy	5961	PRPH2	ORPHA:75377
HP:0030491	Choriocapillaris atrophy	2978	GUCA1A	ORPHA:75377
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	ORPHA:2788
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	OMIM:133780
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	OMIM:601813
HP:0030490	Exudative vitreoretinopathy	23554	TSPAN12	OMIM:613310
HP:0030490	Exudative vitreoretinopathy	8322	FZD4	OMIM:133780
HP:0030490	Exudative vitreoretinopathy	79797	ZNF408	OMIM:616468
HP:0030490	Exudative vitreoretinopathy	1499	CTNNB1	OMIM:617572
HP:0030490	Exudative vitreoretinopathy	1499	CTNNB1	OMIM:615075
HP:0030490	Exudative vitreoretinopathy	8314	BAP1	OMIM:619762
HP:0030490	Exudative vitreoretinopathy	1462	VCAN	OMIM:143200
HP:0030490	Exudative vitreoretinopathy	4693	NDP	OMIM:305390
HP:0010060	Bullet-shaped hallux phalanx	10716	TBR1	ORPHA:1617
HP:0010064	Symphalangism affecting the phalanges of the hallux	727857	BHLHA9	OMIM:609432
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	9896	FIG4	ORPHA:3472
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	55697	VAC14	ORPHA:3472
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	7291	TWIST1	OMIM:101400
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	2263	FGFR2	OMIM:101400
HP:0030499	Macular drusen	2202	EFEMP1	ORPHA:75376
HP:0030499	Macular drusen	3075	CFH	ORPHA:75376
HP:0030499	Macular drusen	3426	CFI	ORPHA:75376
HP:0030499	Macular drusen	348	APOE	OMIM:603075
HP:0030499	Macular drusen	83872	HMCN1	OMIM:603075
HP:0030499	Macular drusen	3078	CFHR1	OMIM:603075
HP:0030499	Macular drusen	10878	CFHR3	OMIM:603075
HP:0030498	Macular thickening	3105	HLA-A	ORPHA:179
HP:0030498	Macular thickening	403	ARL3	OMIM:618173
HP:0030498	Macular thickening	5961	PRPH2	ORPHA:52427
HP:0030498	Macular thickening	6017	RLBP1	ORPHA:52427
HP:0030498	Macular thickening	6010	RHO	ORPHA:52427
HP:0030498	Macular thickening	5959	RDH5	ORPHA:52427
HP:0030498	Macular thickening	10594	PRPF8	OMIM:600059
HP:0030498	Macular thickening	64127	NOD2	OMIM:186580
HP:0030498	Macular thickening	23370	ARHGEF18	OMIM:617433
HP:0030498	Macular thickening	83552	MFRP	OMIM:611040
HP:0030498	Macular thickening	55624	POMGNT1	OMIM:617123
HP:0030498	Macular thickening	5148	PDE6G	OMIM:613582
HP:0030498	Macular thickening	92840	REEP6	OMIM:617304
HP:0030498	Macular thickening	94137	RP1L1	OMIM:618826
HP:0030498	Macular thickening	285440	CYP4V2	ORPHA:41751
HP:0030498	Macular thickening	79947	DHDDS	OMIM:613861
HP:0030498	Macular thickening	3419	IDH3A	OMIM:619007
HP:0030498	Macular thickening	57670	KIAA1549	OMIM:618613
HP:0030498	Macular thickening	55975	KLHL7	OMIM:612943
HP:0030498	Macular thickening	4942	OAT	OMIM:258870
HP:0030498	Macular thickening	7428	VHL	ORPHA:892
HP:0030498	Macular thickening	595	CCND1	ORPHA:892
HP:0030498	Macular thickening	10002	NR2E3	OMIM:268100
HP:0030498	Macular thickening	26121	PRPF31	OMIM:600138
HP:0030498	Macular thickening	4693	NDP	ORPHA:891
HP:0030498	Macular thickening	1499	CTNNB1	ORPHA:891
HP:0030498	Macular thickening	23554	TSPAN12	ORPHA:891
HP:0030498	Macular thickening	4041	LRP5	ORPHA:891
HP:0030498	Macular thickening	79797	ZNF408	ORPHA:891
HP:0030498	Macular thickening	8322	FZD4	ORPHA:891
HP:0030498	Macular thickening	11277	TREX1	ORPHA:247691
HP:0030498	Macular thickening	11277	TREX1	OMIM:192315
HP:0030498	Macular thickening	4901	NRL	OMIM:613750
HP:0030498	Macular thickening	6100	RP9	OMIM:180104
HP:0030498	Macular thickening	114902	C1QTNF5	ORPHA:67042
HP:0030498	Macular thickening	138050	HGSNAT	OMIM:616544
HP:0030498	Macular thickening	114548	NLRP3	OMIM:148200
HP:0030498	Macular thickening	324	APC	ORPHA:99818
HP:0030498	Macular thickening	4771	NF2	ORPHA:637
HP:0030498	Macular thickening	4771	NF2	OMIM:101000
HP:0030498	Macular thickening	51095	TRNT1	OMIM:616959
HP:0030496	Macular exudate	4693	NDP	ORPHA:891
HP:0030496	Macular exudate	1499	CTNNB1	ORPHA:891
HP:0030496	Macular exudate	23554	TSPAN12	ORPHA:891
HP:0030496	Macular exudate	4041	LRP5	ORPHA:891
HP:0030496	Macular exudate	79797	ZNF408	ORPHA:891
HP:0030496	Macular exudate	8322	FZD4	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	4693	NDP	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	1499	CTNNB1	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	23554	TSPAN12	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	4041	LRP5	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	79797	ZNF408	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	8322	FZD4	ORPHA:891
HP:0007010	Poor fine motor coordination	3064	HTT	ORPHA:399
HP:0007010	Poor fine motor coordination	6515	SLC2A3	ORPHA:399
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:254531
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:96184
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:254525
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:254531
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:96184
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:254525
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:254531
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:96184
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:254525
HP:0007010	Poor fine motor coordination	7840	ALMS1	ORPHA:64
HP:0007010	Poor fine motor coordination	5888	RAD51	ORPHA:238722
HP:0007010	Poor fine motor coordination	10126	DNAL4	ORPHA:238722
HP:0007010	Poor fine motor coordination	9423	NTN1	ORPHA:238722
HP:0007010	Poor fine motor coordination	1630	DCC	ORPHA:238722
HP:0007010	Poor fine motor coordination	54914	FOCAD	OMIM:619991
HP:0007010	Poor fine motor coordination	55532	SLC30A10	ORPHA:309854
HP:0007010	Poor fine motor coordination	55532	SLC30A10	OMIM:613280
HP:0007010	Poor fine motor coordination	7415	VCP	ORPHA:435387
HP:0007010	Poor fine motor coordination	6335	SCN9A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6335	SCN9A	ORPHA:36387
HP:0007010	Poor fine motor coordination	6326	SCN2A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6326	SCN2A	ORPHA:36387
HP:0007010	Poor fine motor coordination	2554	GABRA1	ORPHA:33069
HP:0007010	Poor fine motor coordination	6323	SCN1A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6323	SCN1A	ORPHA:36387
HP:0007010	Poor fine motor coordination	6324	SCN1B	ORPHA:33069
HP:0007010	Poor fine motor coordination	6324	SCN1B	ORPHA:36387
HP:0007010	Poor fine motor coordination	57526	PCDH19	ORPHA:33069
HP:0007010	Poor fine motor coordination	2566	GABRG2	ORPHA:33069
HP:0007010	Poor fine motor coordination	2566	GABRG2	ORPHA:36387
HP:0007010	Poor fine motor coordination	7681	MKRN3	OMIM:176270
HP:0007010	Poor fine motor coordination	3653	IPW	OMIM:176270
HP:0007010	Poor fine motor coordination	54551	MAGEL2	OMIM:176270
HP:0007010	Poor fine motor coordination	791114	PWRN1	OMIM:176270
HP:0007010	Poor fine motor coordination	100033413	SNORD116-1	OMIM:176270
HP:0007010	Poor fine motor coordination	8924	HERC2	OMIM:176270
HP:0007010	Poor fine motor coordination	145624	PWAR1	OMIM:176270
HP:0007010	Poor fine motor coordination	23742	NPAP1	OMIM:176270
HP:0007010	Poor fine motor coordination	338433	SNORD115-1	OMIM:176270
HP:0007010	Poor fine motor coordination	9839	ZEB2	ORPHA:261537
HP:0007010	Poor fine motor coordination	9839	ZEB2	ORPHA:261552
HP:0007010	Poor fine motor coordination	5521	PPP2R2B	ORPHA:98762
HP:0007010	Poor fine motor coordination	8050	PDHX	OMIM:245349
HP:0007010	Poor fine motor coordination	10681	GNB5	OMIM:617182
HP:0007010	Poor fine motor coordination	10681	GNB5	ORPHA:542306
HP:0007010	Poor fine motor coordination	5621	PRNP	ORPHA:157941
HP:0007010	Poor fine motor coordination	63895	PIEZO2	OMIM:617146
HP:0007010	Poor fine motor coordination	10743	RAI1	ORPHA:1713
HP:0007010	Poor fine motor coordination	10020	GNE	OMIM:269921
HP:0007010	Poor fine motor coordination	55157	DARS2	ORPHA:137898
HP:0007010	Poor fine motor coordination	93986	FOXP2	ORPHA:209908
HP:0007010	Poor fine motor coordination	84665	MYPN	ORPHA:171439
HP:0007010	Poor fine motor coordination	58	ACTA1	ORPHA:171439
HP:0007010	Poor fine motor coordination	7169	TPM2	ORPHA:171439
HP:0007010	Poor fine motor coordination	390594	KBTBD13	ORPHA:171439
HP:0007010	Poor fine motor coordination	4703	NEB	ORPHA:171439
HP:0007010	Poor fine motor coordination	10324	KLHL41	ORPHA:171439
HP:0007010	Poor fine motor coordination	7170	TPM3	ORPHA:171439
HP:0007010	Poor fine motor coordination	25974	MMACHC	ORPHA:79282
HP:0007010	Poor fine motor coordination	2146	EZH2	OMIM:277590
HP:0007010	Poor fine motor coordination	54974	THG1L	OMIM:618800
HP:0007010	Poor fine motor coordination	81846	SBF2	ORPHA:99956
HP:0007010	Poor fine motor coordination	10079	ATP9A	OMIM:620242
HP:0007010	Poor fine motor coordination	1760	DMPK	ORPHA:589821
HP:0007010	Poor fine motor coordination	2332	FMR1	OMIM:300623
HP:0007010	Poor fine motor coordination	7852	CXCR4	ORPHA:51636
HP:0007010	Poor fine motor coordination	91574	MTRFR	ORPHA:320375
HP:0007010	Poor fine motor coordination	1523	CUX1	OMIM:618330
HP:0007010	Poor fine motor coordination	51109	RDH11	ORPHA:436245
HP:0007010	Poor fine motor coordination	54332	GDAP1	ORPHA:99948
HP:0007010	Poor fine motor coordination	2395	FXN	ORPHA:95
HP:0007010	Poor fine motor coordination	9927	MFN2	ORPHA:99947
HP:0007010	Poor fine motor coordination	112755	STX1B	ORPHA:36387
HP:0007010	Poor fine motor coordination	2563	GABRD	ORPHA:36387
HP:0007010	Poor fine motor coordination	348980	HCN1	ORPHA:36387
HP:0007010	Poor fine motor coordination	84059	ADGRV1	ORPHA:36387
HP:0007010	Poor fine motor coordination	267010	RNU12	ORPHA:512260
HP:0007011	Fourth cranial nerve palsy	64072	CDH23	ORPHA:91347
HP:0007011	Fourth cranial nerve palsy	64072	CDH23	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	4221	MEN1	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	9049	AIP	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	8314	BAP1	ORPHA:50251
HP:0007182	Peripheral hypomyelination	3766	KCNJ10	ORPHA:199343
HP:0007182	Peripheral hypomyelination	3766	KCNJ10	OMIM:612780
HP:0007182	Peripheral hypomyelination	9150	CTDP1	OMIM:604168
HP:0007182	Peripheral hypomyelination	8449	DHX16	OMIM:618733
HP:0007182	Peripheral hypomyelination	1959	EGR2	OMIM:605253
HP:0007182	Peripheral hypomyelination	9896	FIG4	OMIM:611228
HP:0007182	Peripheral hypomyelination	6663	SOX10	OMIM:609136
HP:0007182	Peripheral hypomyelination	121512	FGD4	OMIM:609311
HP:0007182	Peripheral hypomyelination	112	ADCY6	OMIM:616287
HP:0007182	Peripheral hypomyelination	3098	HK1	OMIM:605285
HP:0007015	Poor gross motor coordination	1203	CLN5	ORPHA:228360
HP:0007015	Poor gross motor coordination	1641	DCX	ORPHA:2148
HP:0007015	Poor gross motor coordination	29925	GMPPB	ORPHA:370968
HP:0007015	Poor gross motor coordination	79147	FKRP	ORPHA:370968
HP:0007015	Poor gross motor coordination	29954	POMT2	ORPHA:370968
HP:0007015	Poor gross motor coordination	9215	LARGE1	ORPHA:370968
HP:0007015	Poor gross motor coordination	10585	POMT1	ORPHA:370968
HP:0007015	Poor gross motor coordination	3785	KCNQ2	ORPHA:439218
HP:0007015	Poor gross motor coordination	23261	CAMTA1	OMIM:614756
HP:0007015	Poor gross motor coordination	54332	GDAP1	ORPHA:99948
HP:0007015	Poor gross motor coordination	93986	FOXP2	ORPHA:209908
HP:0007015	Poor gross motor coordination	8050	PDHX	OMIM:245349
HP:0007015	Poor gross motor coordination	7681	MKRN3	OMIM:176270
HP:0007015	Poor gross motor coordination	3653	IPW	OMIM:176270
HP:0007015	Poor gross motor coordination	54551	MAGEL2	OMIM:176270
HP:0007015	Poor gross motor coordination	791114	PWRN1	OMIM:176270
HP:0007015	Poor gross motor coordination	100033413	SNORD116-1	OMIM:176270
HP:0007015	Poor gross motor coordination	8924	HERC2	OMIM:176270
HP:0007015	Poor gross motor coordination	145624	PWAR1	OMIM:176270
HP:0007015	Poor gross motor coordination	23742	NPAP1	OMIM:176270
HP:0007015	Poor gross motor coordination	338433	SNORD115-1	OMIM:176270
HP:0007016	Corticospinal tract hypoplasia	2314	FLII	ORPHA:819
HP:0007016	Corticospinal tract hypoplasia	23096	IQSEC2	ORPHA:819
HP:0007016	Corticospinal tract hypoplasia	10743	RAI1	ORPHA:819
HP:0007016	Corticospinal tract hypoplasia	10522	DEAF1	ORPHA:819
HP:0007016	Corticospinal tract hypoplasia	5162	PDHB	ORPHA:255138
HP:0007016	Corticospinal tract hypoplasia	3897	L1CAM	OMIM:307000
HP:0007017	Progressive forgetfulness	5621	PRNP	ORPHA:282166
HP:0007017	Progressive forgetfulness	11277	TREX1	OMIM:192315
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	51776	MAP3K20	ORPHA:488232
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	5744	PTHLH	ORPHA:93387
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3239	HOXD13	ORPHA:93387
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	9896	FIG4	ORPHA:3472
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	55697	VAC14	ORPHA:3472
HP:0010077	Broad distal phalanx of the hallux	2260	FGFR1	OMIM:123150
HP:0010077	Broad distal phalanx of the hallux	2263	FGFR2	OMIM:123150
HP:0010077	Broad distal phalanx of the hallux	3239	HOXD13	OMIM:113200
HP:0010078	Bullet-shaped distal phalanx of the hallux	10716	TBR1	ORPHA:1617
HP:0007023	Antenatal intracerebral hemorrhage	1376	CPT2	OMIM:608836
HP:0007023	Antenatal intracerebral hemorrhage	54820	NDE1	ORPHA:2177
HP:0007029	Cerebral berry aneurysm	55901	THSD1	OMIM:618734
HP:0007029	Cerebral berry aneurysm	55901	THSD1	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	5310	PKD1	OMIM:173900
HP:0007029	Cerebral berry aneurysm	7049	TGFBR3	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	1281	COL3A1	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	2022	ENG	ORPHA:231160
HP:0010084	Duplication of the distal phalanx of the hallux	7291	TWIST1	OMIM:180750
HP:0010084	Duplication of the distal phalanx of the hallux	124583	CANT1	OMIM:251450
HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	3549	IHH	OMIM:112500
HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	9896	FIG4	ORPHA:3472
HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	55697	VAC14	ORPHA:3472
HP:0010086	Broad proximal phalanx of the hallux	2260	FGFR1	OMIM:123150
HP:0010086	Broad proximal phalanx of the hallux	2263	FGFR2	OMIM:123150
HP:0007030	Nonprogressive encephalopathy	2192	FBLN1	ORPHA:404451
HP:0007030	Nonprogressive encephalopathy	3028	HSD17B10	ORPHA:391428
HP:0007030	Nonprogressive encephalopathy	87178	PNPT1	ORPHA:319514
HP:0007030	Nonprogressive encephalopathy	285175	UNC80	OMIM:616801
HP:0007034	Generalized hyperreflexia	6687	SPG7	ORPHA:35689
HP:0007034	Generalized hyperreflexia	1938	EEF2	ORPHA:101112
HP:0007034	Generalized hyperreflexia	113278	SLC52A3	OMIM:211500
HP:0007034	Generalized hyperreflexia	404672	GTF2H5	ORPHA:33364
HP:0007034	Generalized hyperreflexia	833	CARS1	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2068	ERCC2	ORPHA:33364
HP:0007034	Generalized hyperreflexia	7737	RNF113A	ORPHA:33364
HP:0007034	Generalized hyperreflexia	136647	MPLKIP	ORPHA:33364
HP:0007034	Generalized hyperreflexia	6897	TARS1	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2071	ERCC3	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2961	GTF2E2	ORPHA:33364
HP:0007034	Generalized hyperreflexia	215	ABCD1	ORPHA:139396
HP:0007034	Generalized hyperreflexia	8604	SLC25A12	OMIM:612949
HP:0007034	Generalized hyperreflexia	6513	SLC2A1	ORPHA:71277
HP:0007036	Hypoplasia of olfactory tract	6662	SOX9	ORPHA:140
HP:0007036	Hypoplasia of olfactory tract	10210	TOPORS	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	9851	KIAA0753	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	26123	TCTN3	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	5147	PDE6D	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	65250	CPLANE1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	51259	TMEM216	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	8481	OFD1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	317662	FAM149B1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	374654	KIF7	ORPHA:2754
HP:0007039	Symmetric lesions of the basal ganglia	8622	PDE8B	OMIM:609161
HP:0010093	Duplication of the proximal phalanx of the hallux	51715	RAB23	OMIM:201000
HP:0007041	Chronic lymphocytic meningitis	4261	CIITA	OMIM:209920
HP:0007041	Chronic lymphocytic meningitis	5994	RFXAP	OMIM:209920
HP:0007041	Chronic lymphocytic meningitis	5993	RFX5	OMIM:209920
HP:0007041	Chronic lymphocytic meningitis	8625	RFXANK	OMIM:209920
HP:0007041	Chronic lymphocytic meningitis	55343	SLC35C1	ORPHA:99843
HP:0007042	Focal white matter lesions	291	SLC25A4	ORPHA:254892
HP:0007042	Focal white matter lesions	5428	POLG	ORPHA:254892
HP:0007042	Focal white matter lesions	56652	TWNK	ORPHA:254892
HP:0007042	Focal white matter lesions	11232	POLG2	ORPHA:254892
HP:0007042	Focal white matter lesions	50484	RRM2B	ORPHA:254892
HP:0007042	Focal white matter lesions	8635	RNASET2	OMIM:612951
HP:0007042	Focal white matter lesions	23394	ADNP	ORPHA:404448
HP:0007042	Focal white matter lesions	91574	MTRFR	ORPHA:320375
HP:0007042	Focal white matter lesions	5286	PIK3C2A	ORPHA:557003
HP:0007042	Focal white matter lesions	7248	TSC1	OMIM:607341
HP:0007042	Focal white matter lesions	7249	TSC2	OMIM:607341
HP:0007042	Focal white matter lesions	2475	MTOR	OMIM:607341
HP:0007042	Focal white matter lesions	54704	PDP1	ORPHA:79246
HP:0007042	Focal white matter lesions	9839	ZEB2	ORPHA:261537
HP:0007042	Focal white matter lesions	9839	ZEB2	ORPHA:261552
HP:0007042	Focal white matter lesions	11277	TREX1	ORPHA:247691
HP:0007047	Atrophy of the dentate nucleus	124997	WDR81	OMIM:610185
HP:0007047	Atrophy of the dentate nucleus	1822	ATN1	OMIM:125370
HP:0007048	Large basal ganglia	9839	ZEB2	ORPHA:261537
HP:0007048	Large basal ganglia	9839	ZEB2	ORPHA:261552
HP:0007048	Large basal ganglia	9839	ZEB2	OMIM:235730
HP:0007048	Large basal ganglia	545	ATR	OMIM:210600
HP:0007048	Large basal ganglia	10381	TUBB3	ORPHA:300570
HP:0007289	Limb fasciculations	54902	TTC19	OMIM:615157
HP:0007289	Limb fasciculations	10342	TFG	ORPHA:90117
HP:0007289	Limb fasciculations	7415	VCP	ORPHA:329475
HP:0007289	Limb fasciculations	3094	HINT1	ORPHA:324442
HP:0007289	Limb fasciculations	25814	ATXN10	OMIM:603516
HP:0007289	Limb fasciculations	3315	HSPB1	ORPHA:99940
HP:0007289	Limb fasciculations	6606	SMN1	OMIM:253400
HP:0007289	Limb fasciculations	6607	SMN2	OMIM:253400
HP:0007052	Multifocal cerebral white matter abnormalities	83696	TRAPPC9	ORPHA:352530
HP:0007052	Multifocal cerebral white matter abnormalities	728294	D2HGDH	OMIM:600721
HP:0007052	Multifocal cerebral white matter abnormalities	10535	RNASEH2A	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	84153	RNASEH2C	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	25939	SAMHD1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	79621	RNASEH2B	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	103	ADAR	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	11277	TREX1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	100147744	RNU7-1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	134353	LSM11	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	64135	IFIH1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	83480	PUS3	ORPHA:488627
HP:0007052	Multifocal cerebral white matter abnormalities	10166	SLC25A15	ORPHA:415
HP:0007052	Multifocal cerebral white matter abnormalities	4854	NOTCH3	ORPHA:136
HP:0007052	Multifocal cerebral white matter abnormalities	2548	GAA	ORPHA:308552
HP:0007054	Proximal hyperreflexia	23769	FLRT1	ORPHA:320406
HP:0007054	Proximal hyperreflexia	64837	KLC2	ORPHA:320406
HP:0007054	Proximal hyperreflexia	64837	KLC2	OMIM:609541
HP:0007054	Proximal hyperreflexia	10280	SIGMAR1	OMIM:605726
HP:0007054	Proximal hyperreflexia	200205	IBA57	ORPHA:468661
HP:0007054	Proximal hyperreflexia	4841	NONO	ORPHA:466791
HP:0007054	Proximal hyperreflexia	1327	COX4I1	OMIM:619060
HP:0007054	Proximal hyperreflexia	3074	HEXB	ORPHA:309155
HP:0007054	Proximal hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0007054	Proximal hyperreflexia	55149	MTPAP	OMIM:613672
HP:0007054	Proximal hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0007054	Proximal hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0007054	Proximal hyperreflexia	6389	SDHA	ORPHA:3208
HP:0007054	Proximal hyperreflexia	6390	SDHB	ORPHA:3208
HP:0007054	Proximal hyperreflexia	6392	SDHD	ORPHA:3208
HP:0007054	Proximal hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0007054	Proximal hyperreflexia	5238	PGM3	ORPHA:443811
HP:0007054	Proximal hyperreflexia	3035	HARS1	OMIM:614504
HP:0007054	Proximal hyperreflexia	3035	HARS1	OMIM:616625
HP:0007054	Proximal hyperreflexia	5832	ALDH18A1	ORPHA:447757
HP:0007054	Proximal hyperreflexia	55129	ANO10	OMIM:613728
HP:0007054	Proximal hyperreflexia	26278	SACS	OMIM:270550
HP:0007054	Proximal hyperreflexia	11160	ERLIN2	ORPHA:280384
HP:0007054	Proximal hyperreflexia	11160	ERLIN2	ORPHA:209951
HP:0007054	Proximal hyperreflexia	9897	WASHC5	OMIM:603563
HP:0007054	Proximal hyperreflexia	65055	REEP1	ORPHA:101011
HP:0007054	Proximal hyperreflexia	137492	VPS37A	ORPHA:319199
HP:0007054	Proximal hyperreflexia	113612	CYP2U1	OMIM:615030
HP:0007054	Proximal hyperreflexia	7143	TNR	OMIM:619653
HP:0007054	Proximal hyperreflexia	6683	SPAST	ORPHA:100985
HP:0007054	Proximal hyperreflexia	823	CAPN1	OMIM:616907
HP:0007054	Proximal hyperreflexia	823	CAPN1	ORPHA:488594
HP:0007054	Proximal hyperreflexia	84188	FAR1	ORPHA:447753
HP:0007054	Proximal hyperreflexia	6253	RTN2	ORPHA:100993
HP:0007054	Proximal hyperreflexia	51271	UBAP1	ORPHA:100993
HP:0007054	Proximal hyperreflexia	51271	UBAP1	OMIM:618418
HP:0007054	Proximal hyperreflexia	3329	HSPD1	ORPHA:100994
HP:0007054	Proximal hyperreflexia	2512	FTL	ORPHA:157846
HP:0007054	Proximal hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0007054	Proximal hyperreflexia	3839	KPNA3	ORPHA:171612
HP:0007054	Proximal hyperreflexia	9517	SPTLC2	OMIM:613640
HP:0007054	Proximal hyperreflexia	80208	SPG11	ORPHA:2822
HP:0007054	Proximal hyperreflexia	80208	SPG11	OMIM:604360
HP:0007054	Proximal hyperreflexia	57156	TMEM63C	OMIM:619966
HP:0007054	Proximal hyperreflexia	10060	ABCC9	OMIM:619719
HP:0007141	Sensorimotor neuropathy	9488	PIGB	OMIM:618580
HP:0007141	Sensorimotor neuropathy	4558	MT-TF	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4572	MT-TQ	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4512	MT-CO1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4513	MT-CO2	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4514	MT-CO3	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4578	MT-TW	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4578	MT-TW	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4540	MT-ND5	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4540	MT-ND5	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4541	MT-ND6	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4541	MT-ND6	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4535	MT-ND1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4535	MT-ND1	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4538	MT-ND4	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4538	MT-ND4	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4567	MT-TL1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4567	MT-TL1	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4574	MT-TS1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4575	MT-TS2	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4564	MT-TH	ORPHA:550
HP:0007141	Sensorimotor neuropathy	50484	RRM2B	ORPHA:329336
HP:0007141	Sensorimotor neuropathy	50484	RRM2B	ORPHA:298
HP:0007141	Sensorimotor neuropathy	246243	RNASEH1	ORPHA:329336
HP:0007141	Sensorimotor neuropathy	4311	MME	OMIM:617018
HP:0007141	Sensorimotor neuropathy	4311	MME	OMIM:617017
HP:0007141	Sensorimotor neuropathy	4311	MME	ORPHA:497764
HP:0007141	Sensorimotor neuropathy	57704	GBA2	ORPHA:352641
HP:0007141	Sensorimotor neuropathy	4747	NEFL	ORPHA:99939
HP:0007141	Sensorimotor neuropathy	4747	NEFL	ORPHA:101085
HP:0007141	Sensorimotor neuropathy	4747	NEFL	OMIM:617882
HP:0007141	Sensorimotor neuropathy	11284	PNKP	ORPHA:459033
HP:0007141	Sensorimotor neuropathy	55775	TDP1	ORPHA:94124
HP:0007141	Sensorimotor neuropathy	23600	AMACR	OMIM:614307
HP:0007141	Sensorimotor neuropathy	23600	AMACR	ORPHA:79095
HP:0007141	Sensorimotor neuropathy	79581	SLC52A2	OMIM:614707
HP:0007141	Sensorimotor neuropathy	5521	PPP2R2B	OMIM:604326
HP:0007141	Sensorimotor neuropathy	5521	PPP2R2B	ORPHA:98762
HP:0007141	Sensorimotor neuropathy	7879	RAB7A	OMIM:600882
HP:0007141	Sensorimotor neuropathy	4536	MT-ND2	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4537	MT-ND3	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4577	MT-TV	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4508	MT-ATP6	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4566	MT-TK	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	5191	PEX7	OMIM:266500
HP:0007141	Sensorimotor neuropathy	5264	PHYH	OMIM:266500
HP:0007141	Sensorimotor neuropathy	10978	CLP1	ORPHA:411493
HP:0007141	Sensorimotor neuropathy	2581	GALC	ORPHA:206448
HP:0007141	Sensorimotor neuropathy	2581	GALC	ORPHA:206436
HP:0007141	Sensorimotor neuropathy	2581	GALC	OMIM:245200
HP:0007141	Sensorimotor neuropathy	55768	NGLY1	ORPHA:404454
HP:0007141	Sensorimotor neuropathy	3908	LAMA2	ORPHA:258
HP:0007141	Sensorimotor neuropathy	3908	LAMA2	OMIM:618138
HP:0007141	Sensorimotor neuropathy	5428	POLG	ORPHA:298
HP:0007141	Sensorimotor neuropathy	5428	POLG	OMIM:603041
HP:0007141	Sensorimotor neuropathy	1890	TYMP	ORPHA:298
HP:0007141	Sensorimotor neuropathy	1890	TYMP	OMIM:603041
HP:0007141	Sensorimotor neuropathy	3980	LIG3	ORPHA:298
HP:0007141	Sensorimotor neuropathy	10059	DNM1L	ORPHA:98673
HP:0007141	Sensorimotor neuropathy	4976	OPA1	ORPHA:98673
HP:0007141	Sensorimotor neuropathy	4976	OPA1	OMIM:210000
HP:0007141	Sensorimotor neuropathy	547	KIF1A	ORPHA:101010
HP:0007141	Sensorimotor neuropathy	10342	TFG	ORPHA:431329
HP:0007141	Sensorimotor neuropathy	28958	COA3	OMIM:619058
HP:0007141	Sensorimotor neuropathy	8888	MCM3AP	OMIM:618124
HP:0007141	Sensorimotor neuropathy	7345	UCHL1	OMIM:615491
HP:0007141	Sensorimotor neuropathy	215	ABCD1	ORPHA:139396
HP:0007141	Sensorimotor neuropathy	4358	MPV17	OMIM:256810
HP:0007141	Sensorimotor neuropathy	5173	PDYN	OMIM:610245
HP:0007141	Sensorimotor neuropathy	5190	PEX6	ORPHA:95433
HP:0007141	Sensorimotor neuropathy	8398	PLA2G6	ORPHA:35069
HP:0007141	Sensorimotor neuropathy	54332	GDAP1	ORPHA:101097
HP:0007141	Sensorimotor neuropathy	51608	GET4	OMIM:620200
HP:0007141	Sensorimotor neuropathy	10939	AFG3L2	ORPHA:313772
HP:0007141	Sensorimotor neuropathy	10939	AFG3L2	OMIM:614487
HP:0007141	Sensorimotor neuropathy	55187	VPS13D	ORPHA:95434
HP:0007141	Sensorimotor neuropathy	27072	VPS41	ORPHA:95434
HP:0007141	Sensorimotor neuropathy	84334	COA8	OMIM:619061
HP:0007141	Sensorimotor neuropathy	2583	B4GALNT1	ORPHA:101006
HP:0007141	Sensorimotor neuropathy	112812	FDX2	OMIM:251900
HP:0007141	Sensorimotor neuropathy	26278	SACS	ORPHA:98
HP:0007141	Sensorimotor neuropathy	191	AHCY	ORPHA:88618
HP:0007141	Sensorimotor neuropathy	9517	SPTLC2	OMIM:613640
HP:0007141	Sensorimotor neuropathy	80208	SPG11	ORPHA:2822
HP:0007141	Sensorimotor neuropathy	26090	ABHD12	OMIM:612674
HP:0007141	Sensorimotor neuropathy	2705	GJB1	ORPHA:1175
HP:0007141	Sensorimotor neuropathy	5376	PMP22	ORPHA:3115
HP:0007141	Sensorimotor neuropathy	4359	MPZ	ORPHA:3115
HP:0007141	Sensorimotor neuropathy	3475	IFRD1	ORPHA:98771
HP:0007141	Sensorimotor neuropathy	9997	SCO2	OMIM:604377
HP:0007141	Sensorimotor neuropathy	9131	AIFM1	ORPHA:101078
HP:0007141	Sensorimotor neuropathy	7415	VCP	ORPHA:435387
HP:0007141	Sensorimotor neuropathy	55699	IARS2	OMIM:616007
HP:0007141	Sensorimotor neuropathy	23533	PIK3R5	ORPHA:64753
HP:0007141	Sensorimotor neuropathy	23064	SETX	ORPHA:64753
HP:0007141	Sensorimotor neuropathy	4744	NEFH	OMIM:616924
HP:0007141	Sensorimotor neuropathy	4361	MRE11	ORPHA:251347
HP:0007141	Sensorimotor neuropathy	3032	HADHB	ORPHA:746
HP:0007141	Sensorimotor neuropathy	3030	HADHA	ORPHA:746
HP:0007141	Sensorimotor neuropathy	22934	RPIA	OMIM:608611
HP:0007141	Sensorimotor neuropathy	476	ATP1A1	OMIM:618036
HP:0007141	Sensorimotor neuropathy	5165	PDK3	ORPHA:352675
HP:0007141	Sensorimotor neuropathy	3295	HSD17B4	OMIM:233400
HP:0007141	Sensorimotor neuropathy	23529	CLCF1	OMIM:610313
HP:0007141	Sensorimotor neuropathy	7443	VRK1	OMIM:607596
HP:0007141	Sensorimotor neuropathy	9516	LITAF	OMIM:601098
HP:0007141	Sensorimotor neuropathy	5981	RFC1	ORPHA:504476
HP:0007141	Sensorimotor neuropathy	11117	EMILIN1	OMIM:620080
HP:0007141	Sensorimotor neuropathy	7515	XRCC1	OMIM:617633
HP:0007141	Sensorimotor neuropathy	5660	PSAP	ORPHA:206436
HP:0007141	Sensorimotor neuropathy	5611	DNAJC3	ORPHA:445062
HP:0007141	Sensorimotor neuropathy	3798	KIF5A	ORPHA:100991
HP:0007141	Sensorimotor neuropathy	55532	SLC30A10	OMIM:613280
HP:0007141	Sensorimotor neuropathy	91137	SLC25A46	OMIM:619303
HP:0007141	Sensorimotor neuropathy	3508	IGHMBP2	OMIM:616155
HP:0007141	Sensorimotor neuropathy	79628	SH3TC2	ORPHA:99949
HP:0007141	Sensorimotor neuropathy	57410	SCYL1	OMIM:616719
HP:0007141	Sensorimotor neuropathy	567	B2M	ORPHA:314652
HP:0007141	Sensorimotor neuropathy	50846	DHH	ORPHA:168563
HP:0007057	Poor hand-eye coordination	6535	SLC6A8	OMIM:300352
HP:0007057	Poor hand-eye coordination	165918	RNF168	ORPHA:420741
HP:0007058	Generalized cerebral atrophy/hypoplasia	8398	PLA2G6	ORPHA:199351
HP:0007058	Generalized cerebral atrophy/hypoplasia	1201	CLN3	ORPHA:228346
HP:0007058	Generalized cerebral atrophy/hypoplasia	6908	TBP	ORPHA:98759
HP:0007058	Generalized cerebral atrophy/hypoplasia	6335	SCN9A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	112755	STX1B	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	2563	GABRD	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6326	SCN2A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6323	SCN1A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6324	SCN1B	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	348980	HCN1	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	84059	ADGRV1	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	2566	GABRG2	ORPHA:36387
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	124997	WDR81	OMIM:610185
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	9215	LARGE1	OMIM:613154
HP:0007064	Progressive language deterioration	26047	CNTNAP2	OMIM:610042
HP:0007064	Progressive language deterioration	26047	CNTNAP2	ORPHA:163681
HP:0007064	Progressive language deterioration	2896	GRN	OMIM:607485
HP:0007065	Disorganization of the anterior cerebellar vermis	4983	OPHN1	OMIM:300486
HP:0007067	Distal peripheral sensory neuropathy	22943	DKK1	ORPHA:268882
HP:0007067	Distal peripheral sensory neuropathy	200205	IBA57	ORPHA:468661
HP:0007067	Distal peripheral sensory neuropathy	4558	MT-TF	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4572	MT-TQ	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4512	MT-CO1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4513	MT-CO2	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4514	MT-CO3	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4578	MT-TW	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4540	MT-ND5	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4541	MT-ND6	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4535	MT-ND1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4538	MT-ND4	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4567	MT-TL1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4574	MT-TS1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4575	MT-TS2	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4564	MT-TH	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	3032	HADHB	ORPHA:746
HP:0007067	Distal peripheral sensory neuropathy	3030	HADHA	ORPHA:746
HP:0007067	Distal peripheral sensory neuropathy	2934	GSN	ORPHA:85448
HP:0007067	Distal peripheral sensory neuropathy	80208	SPG11	OMIM:604360
HP:0007069	Profound static encephalopathy	87178	PNPT1	ORPHA:319514
HP:0007069	Profound static encephalopathy	285175	UNC80	OMIM:616801
HP:0007076	Extrapyramidal muscular rigidity	1201	CLN3	ORPHA:228346
HP:0007076	Extrapyramidal muscular rigidity	10535	RNASEH2A	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	84153	RNASEH2C	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	25939	SAMHD1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	79621	RNASEH2B	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	103	ADAR	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	11277	TREX1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	100147744	RNU7-1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	134353	LSM11	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	64135	IFIH1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	80207	OPA3	ORPHA:67036
HP:0007076	Extrapyramidal muscular rigidity	10159	ATP6AP2	ORPHA:93952
HP:0007076	Extrapyramidal muscular rigidity	3119	HLA-DQB1	OMIM:123400
HP:0007076	Extrapyramidal muscular rigidity	5621	PRNP	OMIM:123400
HP:0007076	Extrapyramidal muscular rigidity	10367	MICU1	ORPHA:401768
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240112
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240103
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240071
HP:0007076	Extrapyramidal muscular rigidity	6872	TAF1	ORPHA:53351
HP:0007078	Decreased amplitude of sensory action potentials	10397	NDRG1	ORPHA:99950
HP:0007078	Decreased amplitude of sensory action potentials	7384	UQCRC1	OMIM:619279
HP:0007078	Decreased amplitude of sensory action potentials	2395	FXN	OMIM:229300
HP:0007078	Decreased amplitude of sensory action potentials	6652	SORD	OMIM:618912
HP:0007078	Decreased amplitude of sensory action potentials	22948	CCT5	OMIM:256840
HP:0007078	Decreased amplitude of sensory action potentials	23230	VPS13A	ORPHA:2388
HP:0007078	Decreased amplitude of sensory action potentials	8449	DHX16	OMIM:618733
HP:0007078	Decreased amplitude of sensory action potentials	4000	LMNA	ORPHA:98856
HP:0007078	Decreased amplitude of sensory action potentials	6310	ATXN1	OMIM:164400
HP:0007078	Decreased amplitude of sensory action potentials	26353	HSPB8	OMIM:608673
HP:0007078	Decreased amplitude of sensory action potentials	10558	SPTLC1	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	25923	ATL3	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	9517	SPTLC2	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	51062	ATL1	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	59341	TRPV4	OMIM:606071
HP:0007078	Decreased amplitude of sensory action potentials	22880	MORC2	ORPHA:466768
HP:0007078	Decreased amplitude of sensory action potentials	54332	GDAP1	OMIM:607706
HP:0007078	Decreased amplitude of sensory action potentials	5981	RFC1	OMIM:614575
HP:0007078	Decreased amplitude of sensory action potentials	81846	SBF2	ORPHA:99956
HP:0007078	Decreased amplitude of sensory action potentials	4747	NEFL	OMIM:607684
HP:0007078	Decreased amplitude of sensory action potentials	4358	MPV17	OMIM:618400
HP:0007078	Decreased amplitude of sensory action potentials	9516	LITAF	OMIM:601098
HP:0007078	Decreased amplitude of sensory action potentials	3098	HK1	ORPHA:99953
HP:0007082	Dilated third ventricle	79848	CSPP1	ORPHA:397715
HP:0007082	Dilated third ventricle	9786	KIAA0586	ORPHA:397715
HP:0007082	Dilated third ventricle	57551	TAOK1	OMIM:619575
HP:0007082	Dilated third ventricle	7874	USP7	ORPHA:500055
HP:0007082	Dilated third ventricle	57498	KIDINS220	OMIM:617296
HP:0007082	Dilated third ventricle	10159	ATP6AP2	ORPHA:363654
HP:0007082	Dilated third ventricle	9215	LARGE1	OMIM:613154
HP:0007082	Dilated third ventricle	91875	TTC5	OMIM:619244
HP:0007082	Dilated third ventricle	26005	C2CD3	ORPHA:434179
HP:0007082	Dilated third ventricle	4953	ODC1	ORPHA:544488
HP:0007082	Dilated third ventricle	81857	MED25	ORPHA:464738
HP:0007082	Dilated third ventricle	3781	KCNN2	OMIM:619725
HP:0007082	Dilated third ventricle	1786	DNMT1	ORPHA:314404
HP:0007083	Hyperactive patellar reflex	10280	SIGMAR1	OMIM:605726
HP:0007083	Hyperactive patellar reflex	200205	IBA57	ORPHA:468661
HP:0007083	Hyperactive patellar reflex	4841	NONO	ORPHA:466791
HP:0007083	Hyperactive patellar reflex	1327	COX4I1	OMIM:619060
HP:0007083	Hyperactive patellar reflex	3074	HEXB	ORPHA:309155
HP:0007083	Hyperactive patellar reflex	23400	ATP13A2	ORPHA:306674
HP:0007083	Hyperactive patellar reflex	55149	MTPAP	OMIM:613672
HP:0007083	Hyperactive patellar reflex	23204	ARL6IP1	OMIM:615685
HP:0007083	Hyperactive patellar reflex	23204	ARL6IP1	ORPHA:401780
HP:0007083	Hyperactive patellar reflex	6389	SDHA	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	6390	SDHB	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	6392	SDHD	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	644096	SDHAF1	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	5238	PGM3	ORPHA:443811
HP:0007083	Hyperactive patellar reflex	3035	HARS1	OMIM:614504
HP:0007083	Hyperactive patellar reflex	3035	HARS1	OMIM:616625
HP:0007083	Hyperactive patellar reflex	5832	ALDH18A1	ORPHA:447757
HP:0007083	Hyperactive patellar reflex	55129	ANO10	OMIM:613728
HP:0007083	Hyperactive patellar reflex	26278	SACS	OMIM:270550
HP:0007086	Social and occupational deterioration	1387	CREBBP	ORPHA:353277
HP:0007086	Social and occupational deterioration	1387	CREBBP	ORPHA:353281
HP:0007086	Social and occupational deterioration	2033	EP300	ORPHA:353284
HP:0007086	Social and occupational deterioration	2903	GRIN2A	ORPHA:98818
HP:0007086	Social and occupational deterioration	1312	COMT	OMIM:181500
HP:0007086	Social and occupational deterioration	23780	APOL2	OMIM:181500
HP:0007086	Social and occupational deterioration	267012	DAOA	OMIM:181500
HP:0007086	Social and occupational deterioration	3356	HTR2A	OMIM:181500
HP:0007086	Social and occupational deterioration	6854	SYN2	OMIM:181500
HP:0007086	Social and occupational deterioration	1814	DRD3	OMIM:181500
HP:0007086	Social and occupational deterioration	4524	MTHFR	OMIM:181500
HP:0007086	Social and occupational deterioration	27184	DISC2	OMIM:181500
HP:0007086	Social and occupational deterioration	65078	RTN4R	OMIM:181500
HP:0007086	Social and occupational deterioration	80832	APOL4	OMIM:181500
HP:0007086	Social and occupational deterioration	1116	CHI3L1	OMIM:181500
HP:0007086	Social and occupational deterioration	4137	MAPT	ORPHA:240071
HP:0007089	Facial-lingual fasciculations	23258	DENND5A	OMIM:617281
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276238
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	OMIM:109150
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276244
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276241
HP:0007096	Hypoplasia of the optic tract	51112	TRAPPC12	ORPHA:500144
HP:0007097	Cranial nerve motor loss	113278	SLC52A3	OMIM:211530
HP:0004602	Cervical C2/C3 vertebral fusion	55252	ASXL2	OMIM:617190
HP:0004602	Cervical C2/C3 vertebral fusion	27125	AFF4	ORPHA:444077
HP:0004602	Cervical C2/C3 vertebral fusion	27125	AFF4	OMIM:616368
HP:0004602	Cervical C2/C3 vertebral fusion	2316	FLNA	OMIM:305620
HP:0004602	Cervical C2/C3 vertebral fusion	392255	GDF6	OMIM:118100
HP:0004602	Cervical C2/C3 vertebral fusion	392255	GDF6	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	55870	ASH1L	OMIM:617796
HP:0004602	Cervical C2/C3 vertebral fusion	7862	BRPF1	OMIM:617333
HP:0004602	Cervical C2/C3 vertebral fusion	165	AEBP1	OMIM:618000
HP:0004602	Cervical C2/C3 vertebral fusion	22943	DKK1	ORPHA:268882
HP:0004602	Cervical C2/C3 vertebral fusion	9573	GDF3	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	4222	MEOX1	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	4222	MEOX1	OMIM:214300
HP:0004602	Cervical C2/C3 vertebral fusion	84700	MYO18B	OMIM:616549
HP:0004602	Cervical C2/C3 vertebral fusion	1009	CDH11	OMIM:211380
HP:0004603	Hyperconvex vertebral body endplates	1280	COL2A1	OMIM:184255
HP:0004603	Hyperconvex vertebral body endplates	2335	FN1	OMIM:184255
HP:0004603	Hyperconvex vertebral body endplates	8838	CCN6	ORPHA:1159
HP:0004603	Hyperconvex vertebral body endplates	4796	TONSL	ORPHA:93357
HP:0004605	Absent vertebral body mineralization	1280	COL2A1	OMIM:200610
HP:0004605	Absent vertebral body mineralization	1280	COL2A1	ORPHA:93296
HP:0004607	Anterior beaking of lower thoracic vertebrae	2990	GUSB	OMIM:253220
HP:0004607	Anterior beaking of lower thoracic vertebrae	2990	GUSB	ORPHA:584
HP:0004608	Anteriorly placed odontoid process	22943	DKK1	ORPHA:268882
HP:0004608	Anteriorly placed odontoid process	2316	FLNA	OMIM:305620
HP:0004611	Anterior concavity of thoracic vertebrae	9896	FIG4	OMIM:216340
HP:0004611	Anterior concavity of thoracic vertebrae	2316	FLNA	OMIM:309350
HP:0004611	Anterior concavity of thoracic vertebrae	285590	SH3PXD2B	OMIM:249420
HP:0004611	Anterior concavity of thoracic vertebrae	53335	BCL11A	OMIM:617101
HP:0004632	Cervical segmentation defect	2317	FLNB	OMIM:108721
HP:0004616	Cleft vertebral arch	100151683	RNU4ATAC	OMIM:210710
HP:0004617	Butterfly vertebral arch	182	JAG1	OMIM:118450
HP:0004618	Sandwich appearance of vertebral bodies	10312	TCIRG1	OMIM:259700
HP:0004618	Sandwich appearance of vertebral bodies	10312	TCIRG1	ORPHA:210110
HP:0004618	Sandwich appearance of vertebral bodies	8792	TNFRSF11A	OMIM:602080
HP:0004618	Sandwich appearance of vertebral bodies	1186	CLCN7	ORPHA:210110
HP:0004618	Sandwich appearance of vertebral bodies	9842	PLEKHM1	ORPHA:210110
HP:0004619	Lumbar kyphoscoliosis	1280	COL2A1	OMIM:156550
HP:0004619	Lumbar kyphoscoliosis	10533	ATG7	OMIM:619422
HP:0004621	Enlarged vertebral pedicles	4089	SMAD4	OMIM:139210
HP:0004622	Progressive intervertebral space narrowing	4509	MT-ATP8	ORPHA:480
HP:0004622	Progressive intervertebral space narrowing	4567	MT-TL1	ORPHA:480
HP:0004622	Progressive intervertebral space narrowing	50484	RRM2B	ORPHA:480
HP:0004625	Biconvex vertebral bodies	2335	FN1	ORPHA:93315
HP:0004625	Biconvex vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0004625	Biconvex vertebral bodies	100151683	RNU4ATAC	ORPHA:353298
HP:0004625	Biconvex vertebral bodies	100151683	RNU4ATAC	OMIM:616651
HP:0004625	Biconvex vertebral bodies	6023	RMRP	ORPHA:175
HP:0004625	Biconvex vertebral bodies	9321	TRIP11	OMIM:184260
HP:0004626	Lumbar scoliosis	1280	COL2A1	OMIM:156550
HP:0004626	Lumbar scoliosis	10533	ATG7	OMIM:619422
HP:0004626	Lumbar scoliosis	9361	LONP1	OMIM:600373
HP:0004626	Lumbar scoliosis	10733	PLK4	OMIM:616171
HP:0004626	Lumbar scoliosis	7840	ALMS1	ORPHA:64
HP:0004626	Lumbar scoliosis	6134	RPL10	OMIM:300998
HP:0004626	Lumbar scoliosis	55870	ASH1L	OMIM:617796
HP:0004626	Lumbar scoliosis	51199	NIN	OMIM:614851
HP:0004626	Lumbar scoliosis	51199	NIN	ORPHA:319675
HP:0004626	Lumbar scoliosis	164	AP1G1	OMIM:619548
HP:0004626	Lumbar scoliosis	347734	SLC35B2	OMIM:620269
HP:0004626	Lumbar scoliosis	9060	PAPSS2	OMIM:612847
HP:0004626	Lumbar scoliosis	79158	GNPTAB	OMIM:252500
HP:0004626	Lumbar scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0004626	Lumbar scoliosis	57465	TBC1D24	ORPHA:79500
HP:0004626	Lumbar scoliosis	3373	HYAL1	OMIM:601492
HP:0004626	Lumbar scoliosis	3417	IDH1	ORPHA:99646
HP:0004630	Anterior beaking of thoracic vertebrae	2517	FUCA1	OMIM:230000
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	OMIM:181350
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	ORPHA:98855
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	5339	PLEC	ORPHA:254361
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2010	EMD	OMIM:310300
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2010	EMD	ORPHA:98863
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2273	FHL1	ORPHA:98863
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	79188	TMEM43	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	23345	SYNE1	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	23224	SYNE2	ORPHA:98853
HP:0004633	Lower thoracic kyphosis	4882	NPR2	OMIM:602875
HP:0004634	Cuboid-shaped vertebral bodies	3764	KCNJ8	ORPHA:1517
HP:0004634	Cuboid-shaped vertebral bodies	10060	ABCC9	ORPHA:1517
HP:0004634	Cuboid-shaped vertebral bodies	10060	ABCC9	OMIM:239850
HP:0004635	Cervical C5/C6 vertebrae fusion	2263	FGFR2	ORPHA:87
HP:0004635	Cervical C5/C6 vertebrae fusion	2263	FGFR2	OMIM:101200
HP:0004635	Cervical C5/C6 vertebrae fusion	9573	GDF3	OMIM:613702
HP:0004637	Decreased cervical spine mobility	5626	PROP1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5626	PROP1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	89884	LHX4	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	89884	LHX4	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	8022	LHX3	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5449	POU1F1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5449	POU1F1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	8820	HESX1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	8820	HESX1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	29925	GMPPB	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	79147	FKRP	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	29954	POMT2	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	9215	LARGE1	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	10585	POMT1	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	2736	GLI2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	3170	FOXA2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	5015	OTX2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	6399	TRAPPC2	ORPHA:93284
HP:0004637	Decreased cervical spine mobility	8838	CCN6	OMIM:208230
HP:0000280	Coarse facial features	2137	EXTL3	ORPHA:508533
HP:0000280	Coarse facial features	2137	EXTL3	OMIM:617425
HP:0000280	Coarse facial features	199857	ALG14	OMIM:619031
HP:0000280	Coarse facial features	8450	CUL4B	OMIM:300354
HP:0000280	Coarse facial features	9131	AIFM1	OMIM:300232
HP:0000280	Coarse facial features	27316	RBMX	OMIM:300238
HP:0000280	Coarse facial features	8367	H4C5	OMIM:619950
HP:0000280	Coarse facial features	51256	TBC1D7	OMIM:248000
HP:0000280	Coarse facial features	1183	CLCN4	OMIM:300114
HP:0000280	Coarse facial features	2132	EXT2	OMIM:616682
HP:0000280	Coarse facial features	23241	PACS2	OMIM:618067
HP:0000280	Coarse facial features	23135	KDM6B	OMIM:618505
HP:0000280	Coarse facial features	23556	PIGN	ORPHA:2059
HP:0000280	Coarse facial features	23556	PIGN	OMIM:614080
HP:0000280	Coarse facial features	23556	PIGN	ORPHA:280633
HP:0000280	Coarse facial features	55823	VPS11	ORPHA:466934
HP:0000280	Coarse facial features	673	BRAF	OMIM:115150
HP:0000280	Coarse facial features	673	BRAF	ORPHA:1340
HP:0000280	Coarse facial features	4897	NRCAM	OMIM:619833
HP:0000280	Coarse facial features	118429	ANTXR2	ORPHA:2176
HP:0000280	Coarse facial features	118429	ANTXR2	OMIM:228600
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230600
HP:0000280	Coarse facial features	2720	GLB1	OMIM:253010
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230650
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230500
HP:0000280	Coarse facial features	55777	MBD5	ORPHA:228402
HP:0000280	Coarse facial features	1788	DNMT3A	ORPHA:404443
HP:0000280	Coarse facial features	4758	NEU1	OMIM:256550
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:93399
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:812
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:93400
HP:0000280	Coarse facial features	64324	NSD1	ORPHA:821
HP:0000280	Coarse facial features	29072	SETD2	ORPHA:821
HP:0000280	Coarse facial features	10297	APC2	ORPHA:821
HP:0000280	Coarse facial features	3190	HNRNPK	ORPHA:453504
HP:0000280	Coarse facial features	3190	HNRNPK	ORPHA:352665
HP:0000280	Coarse facial features	4125	MAN2B1	ORPHA:309282
HP:0000280	Coarse facial features	4125	MAN2B1	OMIM:248500
HP:0000280	Coarse facial features	114803	MYSM1	ORPHA:508542
HP:0000280	Coarse facial features	80232	WDR26	ORPHA:513456
HP:0000280	Coarse facial features	80232	WDR26	OMIM:617616
HP:0000280	Coarse facial features	170302	ARX	OMIM:300004
HP:0000280	Coarse facial features	170302	ARX	ORPHA:2508
HP:0000280	Coarse facial features	65993	MRPS34	OMIM:617664
HP:0000280	Coarse facial features	79639	TMEM53	OMIM:619727
HP:0000280	Coarse facial features	65082	VPS33A	OMIM:617303
HP:0000280	Coarse facial features	65082	VPS33A	ORPHA:505248
HP:0000280	Coarse facial features	526	ATP6V1B2	OMIM:616455
HP:0000280	Coarse facial features	526	ATP6V1B2	ORPHA:79500
HP:0000280	Coarse facial features	23431	AP4E1	OMIM:613744
HP:0000280	Coarse facial features	23431	AP4E1	ORPHA:280763
HP:0000280	Coarse facial features	3764	KCNJ8	ORPHA:1517
HP:0000280	Coarse facial features	10060	ABCC9	ORPHA:1517
HP:0000280	Coarse facial features	10060	ABCC9	OMIM:239850
HP:0000280	Coarse facial features	79158	GNPTAB	OMIM:252500
HP:0000280	Coarse facial features	79158	GNPTAB	OMIM:252600
HP:0000280	Coarse facial features	79158	GNPTAB	ORPHA:576
HP:0000280	Coarse facial features	5476	CTSA	OMIM:256540
HP:0000280	Coarse facial features	5476	CTSA	ORPHA:351
HP:0000280	Coarse facial features	57231	SNX14	ORPHA:397709
HP:0000280	Coarse facial features	57231	SNX14	OMIM:616354
HP:0000280	Coarse facial features	50964	SOST	ORPHA:1513
HP:0000280	Coarse facial features	6197	RPS6KA3	OMIM:303600
HP:0000280	Coarse facial features	6197	RPS6KA3	ORPHA:192
HP:0000280	Coarse facial features	84572	GNPTG	OMIM:252605
HP:0000280	Coarse facial features	56992	KIF15	ORPHA:261323
HP:0000280	Coarse facial features	84992	PIGY	ORPHA:247262
HP:0000280	Coarse facial features	84720	PIGO	ORPHA:247262
HP:0000280	Coarse facial features	93210	PGAP3	ORPHA:247262
HP:0000280	Coarse facial features	284098	PIGW	ORPHA:247262
HP:0000280	Coarse facial features	284098	PIGW	OMIM:616025
HP:0000280	Coarse facial features	27315	PGAP2	ORPHA:247262
HP:0000280	Coarse facial features	55650	PIGV	ORPHA:247262
HP:0000280	Coarse facial features	9487	PIGL	ORPHA:247262
HP:0000280	Coarse facial features	9487	PIGL	OMIM:280000
HP:0000280	Coarse facial features	3074	HEXB	ORPHA:309155
HP:0000280	Coarse facial features	3074	HEXB	OMIM:268800
HP:0000280	Coarse facial features	57492	ARID1B	OMIM:135900
HP:0000280	Coarse facial features	57492	ARID1B	ORPHA:1465
HP:0000280	Coarse facial features	54453	RIN2	OMIM:613075
HP:0000280	Coarse facial features	54453	RIN2	ORPHA:217335
HP:0000280	Coarse facial features	23522	KAT6B	OMIM:606170
HP:0000280	Coarse facial features	23522	KAT6B	ORPHA:85201
HP:0000280	Coarse facial features	4853	NOTCH2	OMIM:102500
HP:0000280	Coarse facial features	4853	NOTCH2	ORPHA:955
HP:0000280	Coarse facial features	3423	IDS	ORPHA:217085
HP:0000280	Coarse facial features	3423	IDS	OMIM:309900
HP:0000280	Coarse facial features	3423	IDS	ORPHA:217093
HP:0000280	Coarse facial features	93627	TBCK	OMIM:616900
HP:0000280	Coarse facial features	93627	TBCK	ORPHA:488632
HP:0000280	Coarse facial features	8289	ARID1A	OMIM:614607
HP:0000280	Coarse facial features	8289	ARID1A	ORPHA:1465
HP:0000280	Coarse facial features	83550	GPR101	ORPHA:963
HP:0000280	Coarse facial features	83550	GPR101	OMIM:300942
HP:0000280	Coarse facial features	9049	AIP	ORPHA:963
HP:0000280	Coarse facial features	9049	AIP	OMIM:102200
HP:0000280	Coarse facial features	9049	AIP	ORPHA:99725
HP:0000280	Coarse facial features	4323	MMP14	OMIM:277950
HP:0000280	Coarse facial features	83480	PUS3	ORPHA:488627
HP:0000280	Coarse facial features	83480	PUS3	OMIM:617051
HP:0000280	Coarse facial features	8546	AP3B1	OMIM:608233
HP:0000280	Coarse facial features	6598	SMARCB1	OMIM:614608
HP:0000280	Coarse facial features	6598	SMARCB1	ORPHA:1465
HP:0000280	Coarse facial features	6597	SMARCA4	OMIM:614609
HP:0000280	Coarse facial features	6597	SMARCA4	ORPHA:1465
HP:0000280	Coarse facial features	4763	NF1	ORPHA:363700
HP:0000280	Coarse facial features	1193	CLIC2	ORPHA:324410
HP:0000280	Coarse facial features	23461	ABCA5	ORPHA:2026
HP:0000280	Coarse facial features	79813	EHMT1	OMIM:610253
HP:0000280	Coarse facial features	200734	SPRED2	OMIM:619745
HP:0000280	Coarse facial features	3782	KCNN3	OMIM:618658
HP:0000280	Coarse facial features	3425	IDUA	OMIM:607014
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93474
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93473
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93476
HP:0000280	Coarse facial features	175	AGA	ORPHA:93
HP:0000280	Coarse facial features	175	AGA	OMIM:208400
HP:0000280	Coarse facial features	26040	SETBP1	OMIM:269150
HP:0000280	Coarse facial features	26040	SETBP1	ORPHA:798
HP:0000280	Coarse facial features	3265	HRAS	OMIM:218040
HP:0000280	Coarse facial features	3265	HRAS	ORPHA:3071
HP:0000280	Coarse facial features	9653	HS2ST1	OMIM:619194
HP:0000280	Coarse facial features	1267	CNP	OMIM:619071
HP:0000280	Coarse facial features	1280	COL2A1	OMIM:151210
HP:0000280	Coarse facial features	1280	COL2A1	ORPHA:94068
HP:0000280	Coarse facial features	1280	COL2A1	ORPHA:93346
HP:0000280	Coarse facial features	10717	AP4B1	OMIM:614066
HP:0000280	Coarse facial features	10717	AP4B1	ORPHA:280763
HP:0000280	Coarse facial features	11154	AP4S1	OMIM:614067
HP:0000280	Coarse facial features	11154	AP4S1	ORPHA:280763
HP:0000280	Coarse facial features	8905	AP1S2	ORPHA:85335
HP:0000280	Coarse facial features	8905	AP1S2	OMIM:304340
HP:0000280	Coarse facial features	3845	KRAS	OMIM:615278
HP:0000280	Coarse facial features	3845	KRAS	ORPHA:1340
HP:0000280	Coarse facial features	27125	AFF4	OMIM:616368
HP:0000280	Coarse facial features	9255	AIMP1	OMIM:260600
HP:0000280	Coarse facial features	6804	STX1A	ORPHA:904
HP:0000280	Coarse facial features	7461	CLIP2	ORPHA:904
HP:0000280	Coarse facial features	84277	DNAJC30	ORPHA:904
HP:0000280	Coarse facial features	8468	FKBP6	ORPHA:904
HP:0000280	Coarse facial features	5982	RFC2	ORPHA:904
HP:0000280	Coarse facial features	2969	GTF2I	ORPHA:904
HP:0000280	Coarse facial features	3984	LIMK1	ORPHA:904
HP:0000280	Coarse facial features	9569	GTF2IRD1	ORPHA:904
HP:0000280	Coarse facial features	155382	VPS37D	ORPHA:904
HP:0000280	Coarse facial features	155368	METTL27	ORPHA:904
HP:0000280	Coarse facial features	114049	BUD23	ORPHA:904
HP:0000280	Coarse facial features	7458	EIF4H	ORPHA:904
HP:0000280	Coarse facial features	84163	GTF2IRD2	ORPHA:904
HP:0000280	Coarse facial features	9275	BCL7B	ORPHA:904
HP:0000280	Coarse facial features	26608	TBL2	ORPHA:904
HP:0000280	Coarse facial features	653361	NCF1	ORPHA:904
HP:0000280	Coarse facial features	135886	TMEM270	ORPHA:904
HP:0000280	Coarse facial features	51085	MLXIPL	ORPHA:904
HP:0000280	Coarse facial features	9031	BAZ1B	ORPHA:904
HP:0000280	Coarse facial features	2006	ELN	ORPHA:904
HP:0000280	Coarse facial features	9091	PIGQ	OMIM:618548
HP:0000280	Coarse facial features	2517	FUCA1	ORPHA:349
HP:0000280	Coarse facial features	2517	FUCA1	OMIM:230000
HP:0000280	Coarse facial features	285362	SUMF1	OMIM:272200
HP:0000280	Coarse facial features	285362	SUMF1	ORPHA:585
HP:0000280	Coarse facial features	55343	SLC35C1	OMIM:266265
HP:0000280	Coarse facial features	55343	SLC35C1	ORPHA:99843
HP:0000280	Coarse facial features	2990	GUSB	ORPHA:584
HP:0000280	Coarse facial features	2990	GUSB	OMIM:253220
HP:0000280	Coarse facial features	8314	BAP1	OMIM:619762
HP:0000280	Coarse facial features	6774	STAT3	OMIM:147060
HP:0000280	Coarse facial features	5594	MAPK1	OMIM:619087
HP:0000280	Coarse facial features	6605	SMARCE1	OMIM:616938
HP:0000280	Coarse facial features	6605	SMARCE1	ORPHA:1465
HP:0000280	Coarse facial features	4221	MEN1	ORPHA:99725
HP:0000280	Coarse facial features	6925	TCF4	OMIM:610954
HP:0000280	Coarse facial features	6925	TCF4	ORPHA:2896
HP:0000280	Coarse facial features	57192	MCOLN1	ORPHA:578
HP:0000280	Coarse facial features	10430	TMEM147	OMIM:620075
HP:0000280	Coarse facial features	7030	TFE3	OMIM:301066
HP:0000280	Coarse facial features	2239	GPC4	ORPHA:373
HP:0000280	Coarse facial features	2239	GPC4	OMIM:312870
HP:0000280	Coarse facial features	2719	GPC3	ORPHA:373
HP:0000280	Coarse facial features	2719	GPC3	OMIM:312870
HP:0000280	Coarse facial features	7355	SLC35A2	OMIM:300896
HP:0000280	Coarse facial features	9968	MED12	OMIM:300895
HP:0000280	Coarse facial features	9968	MED12	ORPHA:293707
HP:0000280	Coarse facial features	1028	CDKN1C	OMIM:130650
HP:0000280	Coarse facial features	10984	KCNQ1OT1	OMIM:130650
HP:0000280	Coarse facial features	3481	IGF2	OMIM:130650
HP:0000280	Coarse facial features	3784	KCNQ1	OMIM:130650
HP:0000280	Coarse facial features	5286	PIK3C2A	OMIM:618440
HP:0000280	Coarse facial features	5286	PIK3C2A	ORPHA:557003
HP:0000280	Coarse facial features	546	ATRX	OMIM:309580
HP:0000280	Coarse facial features	26047	CNTNAP2	OMIM:610042
HP:0000280	Coarse facial features	374969	SVBP	OMIM:618569
HP:0000280	Coarse facial features	51322	WAC	OMIM:616708
HP:0000280	Coarse facial features	2316	FLNA	ORPHA:1826
HP:0000280	Coarse facial features	2316	FLNA	OMIM:305620
HP:0000280	Coarse facial features	6885	MAP3K7	ORPHA:1826
HP:0000280	Coarse facial features	404672	GTF2H5	ORPHA:33364
HP:0000280	Coarse facial features	833	CARS1	ORPHA:33364
HP:0000280	Coarse facial features	2068	ERCC2	ORPHA:33364
HP:0000280	Coarse facial features	7737	RNF113A	ORPHA:33364
HP:0000280	Coarse facial features	136647	MPLKIP	ORPHA:33364
HP:0000280	Coarse facial features	6897	TARS1	ORPHA:33364
HP:0000280	Coarse facial features	2071	ERCC3	ORPHA:33364
HP:0000280	Coarse facial features	2961	GTF2E2	ORPHA:33364
HP:0000280	Coarse facial features	79791	FBXO31	OMIM:615979
HP:0000280	Coarse facial features	84295	PHF6	ORPHA:127
HP:0000280	Coarse facial features	84295	PHF6	OMIM:301900
HP:0000280	Coarse facial features	4313	MMP2	OMIM:259600
HP:0000280	Coarse facial features	2697	GJA1	OMIM:218400
HP:0000280	Coarse facial features	51117	COQ4	OMIM:616276
HP:0000280	Coarse facial features	84188	FAR1	OMIM:616154
HP:0000280	Coarse facial features	4352	MPL	ORPHA:3319
HP:0000280	Coarse facial features	7066	THPO	ORPHA:3319
HP:0000280	Coarse facial features	196528	ARID2	OMIM:617808
HP:0000280	Coarse facial features	196528	ARID2	ORPHA:1465
HP:0000280	Coarse facial features	5277	PIGA	OMIM:301072
HP:0000280	Coarse facial features	5277	PIGA	OMIM:300868
HP:0000280	Coarse facial features	8260	NAA10	ORPHA:276432
HP:0000280	Coarse facial features	8260	NAA10	OMIM:300855
HP:0000280	Coarse facial features	54808	DYM	ORPHA:239
HP:0000280	Coarse facial features	54808	DYM	OMIM:223800
HP:0000280	Coarse facial features	9488	PIGB	OMIM:618580
HP:0000280	Coarse facial features	6448	SGSH	OMIM:252900
HP:0000280	Coarse facial features	23013	SPEN	OMIM:619312
HP:0000280	Coarse facial features	30000	TNPO2	OMIM:619556
HP:0000280	Coarse facial features	124997	WDR81	OMIM:610185
HP:0000280	Coarse facial features	23394	ADNP	OMIM:615873
HP:0000280	Coarse facial features	411	ARSB	OMIM:253200
HP:0000280	Coarse facial features	55593	OTUD5	OMIM:301056
HP:0000280	Coarse facial features	26580	BSCL2	ORPHA:363400
HP:0000280	Coarse facial features	7707	ZNF148	OMIM:617260
HP:0000280	Coarse facial features	57465	TBC1D24	OMIM:220500
HP:0000280	Coarse facial features	57465	TBC1D24	ORPHA:79500
HP:0000280	Coarse facial features	23102	TBC1D2B	OMIM:619323
HP:0000280	Coarse facial features	79868	ALG13	OMIM:300884
HP:0000280	Coarse facial features	55784	MCTP2	ORPHA:1596
HP:0000280	Coarse facial features	9179	AP4M1	OMIM:612936
HP:0000280	Coarse facial features	9179	AP4M1	ORPHA:280763
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95720
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95713
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95712
HP:0000280	Coarse facial features	7253	TSHR	ORPHA:95720
HP:0000280	Coarse facial features	7253	TSHR	ORPHA:95713
HP:0000280	Coarse facial features	5172	SLC26A4	ORPHA:95720
HP:0000280	Coarse facial features	5172	SLC26A4	ORPHA:95713
HP:0000280	Coarse facial features	79068	FTO	OMIM:612938
HP:0000280	Coarse facial features	153642	ARSK	OMIM:619698
HP:0000280	Coarse facial features	4052	LTBP1	OMIM:619451
HP:0000280	Coarse facial features	63035	BCORL1	OMIM:301029
HP:0000280	Coarse facial features	3756	KCNH1	OMIM:135500
HP:0000280	Coarse facial features	3756	KCNH1	ORPHA:420561
HP:0000280	Coarse facial features	5530	PPP3CA	OMIM:617711
HP:0000280	Coarse facial features	6659	SOX4	ORPHA:1465
HP:0000280	Coarse facial features	5977	DPF2	ORPHA:1465
HP:0000280	Coarse facial features	5977	DPF2	OMIM:618027
HP:0000280	Coarse facial features	6601	SMARCC2	ORPHA:1465
HP:0000280	Coarse facial features	6602	SMARCD1	ORPHA:1465
HP:0000280	Coarse facial features	6664	SOX11	ORPHA:1465
HP:0000280	Coarse facial features	7080	NKX2-1	ORPHA:95713
HP:0000280	Coarse facial features	1482	NKX2-5	ORPHA:95713
HP:0000280	Coarse facial features	1482	NKX2-5	ORPHA:95712
HP:0000280	Coarse facial features	2304	FOXE1	ORPHA:95713
HP:0000280	Coarse facial features	1108	CHD4	OMIM:617159
HP:0000280	Coarse facial features	5604	MAP2K1	ORPHA:1340
HP:0000280	Coarse facial features	5605	MAP2K2	ORPHA:1340
HP:0000280	Coarse facial features	64131	XYLT1	OMIM:615777
HP:0000280	Coarse facial features	28956	LAMTOR2	ORPHA:90023
HP:0000280	Coarse facial features	28956	LAMTOR2	OMIM:610798
HP:0000280	Coarse facial features	2717	GLA	ORPHA:324
HP:0000280	Coarse facial features	3248	HPGD	ORPHA:2796
HP:0000280	Coarse facial features	3248	HPGD	OMIM:259100
HP:0000280	Coarse facial features	6578	SLCO2A1	ORPHA:2796
HP:0000280	Coarse facial features	80311	KLHL15	OMIM:300982
HP:0000280	Coarse facial features	23258	DENND5A	OMIM:617281
HP:0000280	Coarse facial features	26175	LYSET	OMIM:619345
HP:0000280	Coarse facial features	54681	P4HTM	OMIM:618493
HP:0000280	Coarse facial features	2332	FMR1	OMIM:300624
HP:0000280	Coarse facial features	5144	PDE4D	ORPHA:439822
HP:0000280	Coarse facial features	54551	MAGEL2	OMIM:615547
HP:0000280	Coarse facial features	5727	PTCH1	OMIM:109400
HP:0000280	Coarse facial features	3643	INSR	OMIM:262190
HP:0000280	Coarse facial features	3643	INSR	ORPHA:769
HP:0000280	Coarse facial features	5281	PIGF	OMIM:619356
HP:0000280	Coarse facial features	57003	CCDC47	OMIM:618268
HP:0000280	Coarse facial features	94005	PIGS	OMIM:618143
HP:0000280	Coarse facial features	6711	SPTBN1	OMIM:619475
HP:0000280	Coarse facial features	2588	GALNS	OMIM:253000
HP:0000280	Coarse facial features	285590	SH3PXD2B	ORPHA:137834
HP:0000280	Coarse facial features	285590	SH3PXD2B	OMIM:249420
HP:0000280	Coarse facial features	374879	ZNF699	OMIM:619488
HP:0000280	Coarse facial features	57688	ZSWIM6	OMIM:617865
HP:0000280	Coarse facial features	2799	GNS	OMIM:252940
HP:0000280	Coarse facial features	9759	HDAC4	OMIM:600430
HP:0000280	Coarse facial features	153241	CEP120	OMIM:616300
HP:0000280	Coarse facial features	10020	GNE	OMIM:269921
HP:0000280	Coarse facial features	10020	GNE	ORPHA:3166
HP:0000280	Coarse facial features	26503	SLC17A5	OMIM:269920
HP:0000280	Coarse facial features	4668	NAGA	ORPHA:79280
HP:0000280	Coarse facial features	4668	NAGA	OMIM:609242
HP:0000280	Coarse facial features	54187	NANS	OMIM:610442
HP:0000280	Coarse facial features	138050	HGSNAT	OMIM:252930
HP:0000280	Coarse facial features	55901	THSD1	OMIM:620244
HP:0000280	Coarse facial features	71	ACTG1	ORPHA:2995
HP:0000280	Coarse facial features	60	ACTB	ORPHA:2995
HP:0000280	Coarse facial features	64802	NMNAT1	OMIM:619260
HP:0000280	Coarse facial features	129285	PPP1R21	OMIM:619383
HP:0000280	Coarse facial features	3897	L1CAM	ORPHA:2182
HP:0000280	Coarse facial features	672	BRCA1	OMIM:617883
HP:0000280	Coarse facial features	83452	RAB33B	OMIM:615222
HP:0000280	Coarse facial features	55331	ACER3	OMIM:617762
HP:0000280	Coarse facial features	9373	PLAA	OMIM:617527
HP:0000280	Coarse facial features	4669	NAGLU	OMIM:252920
HP:0000280	Coarse facial features	2273	FHL1	OMIM:300280
HP:0000242	Parietal bossing	9896	FIG4	OMIM:216340
HP:0000242	Parietal bossing	5727	PTCH1	OMIM:610828
HP:0000242	Parietal bossing	5727	PTCH1	OMIM:109400
HP:0000242	Parietal bossing	2261	FGFR3	ORPHA:15
HP:0000242	Parietal bossing	3845	KRAS	OMIM:600268
HP:0000242	Parietal bossing	860	RUNX2	OMIM:119600
HP:0000242	Parietal bossing	5781	PTPN11	OMIM:151100
HP:0000242	Parietal bossing	9526	MPDU1	OMIM:609180
HP:0000242	Parietal bossing	9526	MPDU1	ORPHA:79323
HP:0000242	Parietal bossing	11128	POLR3A	OMIM:264090
HP:0000327	Hypoplasia of the maxilla	7291	TWIST1	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	7291	TWIST1	OMIM:101400
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:123500
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:87
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:207
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:101400
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:1540
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:101600
HP:0000327	Hypoplasia of the maxilla	2261	FGFR3	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	2261	FGFR3	ORPHA:93262
HP:0000327	Hypoplasia of the maxilla	5573	PRKAR1A	ORPHA:950
HP:0000327	Hypoplasia of the maxilla	5573	PRKAR1A	OMIM:101800
HP:0000327	Hypoplasia of the maxilla	5144	PDE4D	ORPHA:950
HP:0000327	Hypoplasia of the maxilla	5144	PDE4D	ORPHA:439822
HP:0000327	Hypoplasia of the maxilla	2245	FGD1	OMIM:305400
HP:0000327	Hypoplasia of the maxilla	2245	FGD1	ORPHA:915
HP:0000327	Hypoplasia of the maxilla	10617	STAMBP	OMIM:614261
HP:0000327	Hypoplasia of the maxilla	22856	CHSY1	ORPHA:363417
HP:0000327	Hypoplasia of the maxilla	26128	KIFBP	OMIM:609460
HP:0000327	Hypoplasia of the maxilla	5077	PAX3	ORPHA:1529
HP:0000327	Hypoplasia of the maxilla	5077	PAX3	OMIM:122880
HP:0000327	Hypoplasia of the maxilla	10992	SF3B2	OMIM:164210
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:604292
HP:0000327	Hypoplasia of the maxilla	8626	TP63	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:106260
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:129400
HP:0000327	Hypoplasia of the maxilla	10084	PQBP1	ORPHA:93950
HP:0000327	Hypoplasia of the maxilla	10084	PQBP1	ORPHA:93945
HP:0000327	Hypoplasia of the maxilla	5308	PITX2	ORPHA:782
HP:0000327	Hypoplasia of the maxilla	5308	PITX2	OMIM:180500
HP:0000327	Hypoplasia of the maxilla	2296	FOXC1	ORPHA:782
HP:0000327	Hypoplasia of the maxilla	7314	UBB	ORPHA:99772
HP:0000327	Hypoplasia of the maxilla	57822	GRHL3	ORPHA:99772
HP:0000327	Hypoplasia of the maxilla	4054	LTBP3	OMIM:601216
HP:0000327	Hypoplasia of the maxilla	650	BMP2	ORPHA:261295
HP:0000327	Hypoplasia of the maxilla	91179	SCARF2	OMIM:600920
HP:0000327	Hypoplasia of the maxilla	6651	SON	OMIM:617140
HP:0000327	Hypoplasia of the maxilla	6651	SON	ORPHA:500150
HP:0000327	Hypoplasia of the maxilla	4487	MSX1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	5818	NECTIN1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	1739	DLG1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	652	BMP4	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	999	CDH1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	5156	PDGFRA	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	3664	IRF6	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	9411	ARHGAP29	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	1748	DLX4	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	10847	SRCAP	ORPHA:2044
HP:0000327	Hypoplasia of the maxilla	25782	RAB3GAP2	OMIM:212720
HP:0000327	Hypoplasia of the maxilla	29072	SETD2	OMIM:620157
HP:0000327	Hypoplasia of the maxilla	51114	ZDHHC9	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	65109	UPF3B	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	65109	UPF3B	OMIM:300676
HP:0000327	Hypoplasia of the maxilla	9968	MED12	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	9968	MED12	OMIM:309520
HP:0000327	Hypoplasia of the maxilla	64135	IFIH1	OMIM:182250
HP:0000327	Hypoplasia of the maxilla	1896	EDA	OMIM:305100
HP:0000327	Hypoplasia of the maxilla	10484	SEC23A	ORPHA:50814
HP:0000327	Hypoplasia of the maxilla	4998	ORC1	OMIM:224690
HP:0000327	Hypoplasia of the maxilla	4998	ORC1	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	25885	POLR1A	OMIM:616462
HP:0000327	Hypoplasia of the maxilla	29920	PYCR2	ORPHA:481152
HP:0000327	Hypoplasia of the maxilla	92344	GORAB	OMIM:231070
HP:0000327	Hypoplasia of the maxilla	2077	ERF	ORPHA:207
HP:0000327	Hypoplasia of the maxilla	2317	FLNB	OMIM:108721
HP:0000327	Hypoplasia of the maxilla	3759	KCNJ2	OMIM:170390
HP:0000327	Hypoplasia of the maxilla	3759	KCNJ2	ORPHA:37553
HP:0000327	Hypoplasia of the maxilla	81620	CDT1	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	81620	CDT1	OMIM:613804
HP:0000327	Hypoplasia of the maxilla	5000	ORC4	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	23594	ORC6	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	23594	ORC6	OMIM:613803
HP:0000327	Hypoplasia of the maxilla	8318	CDC45	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	990	CDC6	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	990	CDC6	OMIM:613805
HP:0000327	Hypoplasia of the maxilla	51053	GMNN	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	1009	CDH11	OMIM:211380
HP:0000327	Hypoplasia of the maxilla	1009	CDH11	ORPHA:1299
HP:0000327	Hypoplasia of the maxilla	64093	SMOC1	ORPHA:1106
HP:0000327	Hypoplasia of the maxilla	157680	VPS13B	OMIM:216550
HP:0000327	Hypoplasia of the maxilla	157680	VPS13B	ORPHA:193
HP:0000327	Hypoplasia of the maxilla	1301	COL11A1	ORPHA:560
HP:0000327	Hypoplasia of the maxilla	633	BGN	OMIM:300106
HP:0000327	Hypoplasia of the maxilla	1280	COL2A1	ORPHA:90653
HP:0000327	Hypoplasia of the maxilla	79633	FAT4	OMIM:615546
HP:0000327	Hypoplasia of the maxilla	79633	FAT4	ORPHA:314679
HP:0000327	Hypoplasia of the maxilla	8642	DCHS1	OMIM:601390
HP:0000327	Hypoplasia of the maxilla	8642	DCHS1	ORPHA:314679
HP:0000327	Hypoplasia of the maxilla	2239	GPC4	ORPHA:2662
HP:0000327	Hypoplasia of the maxilla	9343	EFTUD2	ORPHA:79113
HP:0000327	Hypoplasia of the maxilla	2697	GJA1	OMIM:257850
HP:0000327	Hypoplasia of the maxilla	81794	ADAMTS10	OMIM:277600
HP:0000327	Hypoplasia of the maxilla	6197	RPS6KA3	ORPHA:192
HP:0000327	Hypoplasia of the maxilla	29957	SLC25A24	ORPHA:2095
HP:0000327	Hypoplasia of the maxilla	55621	TRMT1	OMIM:618302
HP:0000327	Hypoplasia of the maxilla	3590	IL11RA	OMIM:614188
HP:0000327	Hypoplasia of the maxilla	8092	ALX1	ORPHA:306542
HP:0000327	Hypoplasia of the maxilla	145173	B3GLCT	OMIM:261540
HP:0000327	Hypoplasia of the maxilla	1387	CREBBP	OMIM:180849
HP:0000327	Hypoplasia of the maxilla	2033	EP300	OMIM:180849
HP:0000327	Hypoplasia of the maxilla	117581	TWIST2	OMIM:209885
HP:0000327	Hypoplasia of the maxilla	117581	TWIST2	ORPHA:920
HP:0000327	Hypoplasia of the maxilla	1909	EDNRA	OMIM:616367
HP:0000327	Hypoplasia of the maxilla	6638	SNRPN	OMIM:105830
HP:0000327	Hypoplasia of the maxilla	7337	UBE3A	OMIM:105830
HP:0000327	Hypoplasia of the maxilla	54499	TMCO1	OMIM:213980
HP:0000327	Hypoplasia of the maxilla	415	ARSL	ORPHA:79345
HP:0000327	Hypoplasia of the maxilla	2736	GLI2	OMIM:610829
HP:0000327	Hypoplasia of the maxilla	84172	POLR1B	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	9533	POLR1C	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	51082	POLR1D	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	6949	TCOF1	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	2200	FBN1	OMIM:608328
HP:0000327	Hypoplasia of the maxilla	2200	FBN1	ORPHA:2462
HP:0000327	Hypoplasia of the maxilla	5728	PTEN	OMIM:158350
HP:0000327	Hypoplasia of the maxilla	26137	ZBTB20	OMIM:259050
HP:0000327	Hypoplasia of the maxilla	4089	SMAD4	OMIM:139210
HP:0000327	Hypoplasia of the maxilla	4089	SMAD4	ORPHA:2588
HP:0000327	Hypoplasia of the maxilla	5159	PDGFRB	OMIM:601812
HP:0000327	Hypoplasia of the maxilla	51715	RAB23	OMIM:201000
HP:0000327	Hypoplasia of the maxilla	388015	RTL1	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	8788	DLK1	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	55384	MEG3	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	3930	LBR	OMIM:215140
HP:0000327	Hypoplasia of the maxilla	6497	SKI	OMIM:182212
HP:0000327	Hypoplasia of the maxilla	6497	SKI	ORPHA:2462
HP:0000327	Hypoplasia of the maxilla	8242	KDM5C	OMIM:300534
HP:0000327	Hypoplasia of the maxilla	8242	KDM5C	ORPHA:85279
HP:0000327	Hypoplasia of the maxilla	2260	FGFR1	OMIM:166250
HP:0000327	Hypoplasia of the maxilla	2260	FGFR1	OMIM:101600
HP:0000327	Hypoplasia of the maxilla	4313	MMP2	OMIM:259600
HP:0000327	Hypoplasia of the maxilla	1513	CTSK	ORPHA:763
HP:0000327	Hypoplasia of the maxilla	257	ALX3	OMIM:136760
HP:0000327	Hypoplasia of the maxilla	257	ALX3	ORPHA:391474
HP:0000327	Hypoplasia of the maxilla	10262	SF3B4	ORPHA:245
HP:0000327	Hypoplasia of the maxilla	23102	TBC1D2B	ORPHA:397973
HP:0000327	Hypoplasia of the maxilla	860	RUNX2	OMIM:156510
HP:0000327	Hypoplasia of the maxilla	54101	RIPK4	OMIM:263650
HP:0000327	Hypoplasia of the maxilla	5566	PRKACA	OMIM:619142
HP:0000327	Hypoplasia of the maxilla	80169	CTC1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	26277	TINF2	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55651	NHP2	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	79650	USB1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55135	WRAP53	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	51750	RTEL1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	4869	NPM1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7012	TERC	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55505	NOP10	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	5073	PARN	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7015	TERT	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	1736	DKC1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7298	TYMS	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	10844	TUBGCP2	OMIM:618737
HP:0000327	Hypoplasia of the maxilla	529	ATP6V1E1	OMIM:617402
HP:0000327	Hypoplasia of the maxilla	5290	PIK3CA	OMIM:615108
HP:0000327	Hypoplasia of the maxilla	207	AKT1	OMIM:615109
HP:0000327	Hypoplasia of the maxilla	9935	MAFB	OMIM:166300
HP:0000327	Hypoplasia of the maxilla	3762	KCNJ5	ORPHA:37553
HP:0000327	Hypoplasia of the maxilla	865	CBFB	OMIM:620099
HP:0000327	Hypoplasia of the maxilla	9990	SLC12A6	OMIM:218000
HP:0000325	Triangular face	8367	H4C5	OMIM:619950
HP:0000325	Triangular face	50651	SLC45A1	OMIM:617532
HP:0000325	Triangular face	83932	SPRTN	OMIM:616200
HP:0000325	Triangular face	161742	SPRED1	OMIM:611431
HP:0000325	Triangular face	9820	CUL7	ORPHA:2616
HP:0000325	Triangular face	9820	CUL7	OMIM:273750
HP:0000325	Triangular face	23363	OBSL1	ORPHA:2616
HP:0000325	Triangular face	23363	OBSL1	OMIM:612921
HP:0000325	Triangular face	83987	CCDC8	ORPHA:2616
HP:0000325	Triangular face	83987	CCDC8	OMIM:614205
HP:0000325	Triangular face	2629	GBA1	OMIM:608013
HP:0000325	Triangular face	3481	IGF2	ORPHA:231140
HP:0000325	Triangular face	3481	IGF2	ORPHA:231144
HP:0000325	Triangular face	3481	IGF2	OMIM:616489
HP:0000325	Triangular face	3481	IGF2	ORPHA:397590
HP:0000325	Triangular face	3481	IGF2	OMIM:180860
HP:0000325	Triangular face	283120	H19	ORPHA:231140
HP:0000325	Triangular face	283120	H19	ORPHA:231144
HP:0000325	Triangular face	10743	RAI1	ORPHA:477817
HP:0000325	Triangular face	10743	RAI1	ORPHA:1713
HP:0000325	Triangular face	116931	MED12L	OMIM:618872
HP:0000325	Triangular face	10847	SRCAP	ORPHA:2044
HP:0000325	Triangular face	10847	SRCAP	OMIM:136140
HP:0000325	Triangular face	10084	PQBP1	ORPHA:93947
HP:0000325	Triangular face	10084	PQBP1	OMIM:309500
HP:0000325	Triangular face	64324	NSD1	OMIM:117550
HP:0000325	Triangular face	10555	AGPAT2	OMIM:608594
HP:0000325	Triangular face	79087	ALG12	OMIM:607143
HP:0000325	Triangular face	222663	SCUBE3	OMIM:619184
HP:0000325	Triangular face	857	CAV1	OMIM:606721
HP:0000325	Triangular face	9184	BUB3	ORPHA:1052
HP:0000325	Triangular face	699	BUB1	ORPHA:1052
HP:0000325	Triangular face	9702	CEP57	ORPHA:1052
HP:0000325	Triangular face	9702	CEP57	OMIM:614114
HP:0000325	Triangular face	9319	TRIP13	ORPHA:1052
HP:0000325	Triangular face	701	BUB1B	ORPHA:1052
HP:0000325	Triangular face	22872	SEC31A	OMIM:618651
HP:0000325	Triangular face	4591	TRIM37	OMIM:253250
HP:0000325	Triangular face	649	BMP1	OMIM:614856
HP:0000325	Triangular face	4598	MVK	OMIM:610377
HP:0000325	Triangular face	4598	MVK	ORPHA:29
HP:0000325	Triangular face	200734	SPRED2	OMIM:619745
HP:0000325	Triangular face	200734	SPRED2	ORPHA:648
HP:0000325	Triangular face	26057	ANKRD17	OMIM:619504
HP:0000325	Triangular face	25942	SIN3A	OMIM:613406
HP:0000325	Triangular face	2200	FBN1	OMIM:616914
HP:0000325	Triangular face	7809	BSND	ORPHA:89938
HP:0000325	Triangular face	1188	CLCNKB	ORPHA:89938
HP:0000325	Triangular face	1187	CLCNKA	ORPHA:89938
HP:0000325	Triangular face	253738	EBF3	OMIM:617330
HP:0000325	Triangular face	54914	FOCAD	OMIM:619991
HP:0000325	Triangular face	8558	CDK10	OMIM:617694
HP:0000325	Triangular face	5593	PRKG2	OMIM:619638
HP:0000325	Triangular face	5593	PRKG2	OMIM:619636
HP:0000325	Triangular face	285175	UNC80	OMIM:616801
HP:0000325	Triangular face	285175	UNC80	ORPHA:371364
HP:0000325	Triangular face	80067	DCAF17	ORPHA:3464
HP:0000325	Triangular face	80067	DCAF17	OMIM:241080
HP:0000325	Triangular face	11128	POLR3A	OMIM:264090
HP:0000325	Triangular face	11128	POLR3A	ORPHA:3455
HP:0000325	Triangular face	23137	SMC5	OMIM:620185
HP:0000325	Triangular face	8905	AP1S2	ORPHA:85329
HP:0000325	Triangular face	7750	ZMYM2	OMIM:619522
HP:0000325	Triangular face	1028	CDKN1C	ORPHA:397590
HP:0000325	Triangular face	5324	PLAG1	ORPHA:397590
HP:0000325	Triangular face	5324	PLAG1	OMIM:618907
HP:0000325	Triangular face	8091	HMGA2	ORPHA:397590
HP:0000325	Triangular face	8091	HMGA2	OMIM:618908
HP:0000325	Triangular face	8091	HMGA2	ORPHA:94063
HP:0000325	Triangular face	7140	TNNT3	OMIM:618435
HP:0000325	Triangular face	182	JAG1	OMIM:118450
HP:0000325	Triangular face	63895	PIEZO2	ORPHA:1154
HP:0000325	Triangular face	63895	PIEZO2	OMIM:108145
HP:0000325	Triangular face	4621	MYH3	OMIM:618436
HP:0000325	Triangular face	9772	TMEM94	OMIM:618316
HP:0000325	Triangular face	57724	EPG5	OMIM:242840
HP:0000325	Triangular face	5295	PIK3R1	OMIM:269880
HP:0000325	Triangular face	5295	PIK3R1	ORPHA:3163
HP:0000325	Triangular face	9968	MED12	OMIM:300895
HP:0000325	Triangular face	9968	MED12	ORPHA:293707
HP:0000325	Triangular face	5818	NECTIN1	OMIM:225060
HP:0000325	Triangular face	7994	KAT6A	OMIM:616268
HP:0000325	Triangular face	2006	ELN	ORPHA:90348
HP:0000325	Triangular face	10516	FBLN5	ORPHA:90348
HP:0000325	Triangular face	5832	ALDH18A1	ORPHA:90348
HP:0000325	Triangular face	5832	ALDH18A1	OMIM:616603
HP:0000325	Triangular face	5194	PEX13	OMIM:614883
HP:0000325	Triangular face	5824	PEX19	OMIM:614886
HP:0000325	Triangular face	5195	PEX14	OMIM:614887
HP:0000325	Triangular face	51574	LARP7	ORPHA:319671
HP:0000325	Triangular face	51574	LARP7	OMIM:615071
HP:0000325	Triangular face	387733	IFITM5	OMIM:610967
HP:0000325	Triangular face	60681	FKBP10	OMIM:610968
HP:0000325	Triangular face	60681	FKBP10	ORPHA:2771
HP:0000325	Triangular face	6595	SMARCA2	OMIM:601358
HP:0000325	Triangular face	6595	SMARCA2	ORPHA:3051
HP:0000325	Triangular face	5631	PRPS1	OMIM:300661
HP:0000325	Triangular face	27077	B9D1	OMIM:617120
HP:0000325	Triangular face	5781	PTPN11	OMIM:151100
HP:0000325	Triangular face	5781	PTPN11	ORPHA:500
HP:0000325	Triangular face	5781	PTPN11	ORPHA:648
HP:0000325	Triangular face	5781	PTPN11	OMIM:163950
HP:0000325	Triangular face	29123	ANKRD11	OMIM:148050
HP:0000325	Triangular face	29123	ANKRD11	ORPHA:2332
HP:0000325	Triangular face	29123	ANKRD11	ORPHA:261250
HP:0000325	Triangular face	256297	PTF1A	ORPHA:65288
HP:0000325	Triangular face	256297	PTF1A	OMIM:609069
HP:0000325	Triangular face	2702	GJA5	OMIM:612474
HP:0000325	Triangular face	2703	GJA8	OMIM:612474
HP:0000325	Triangular face	867	CBL	OMIM:613563
HP:0000325	Triangular face	867	CBL	ORPHA:648
HP:0000325	Triangular face	5081	PAX7	OMIM:618578
HP:0000325	Triangular face	6888	TALDO1	OMIM:606003
HP:0000325	Triangular face	3720	JARID2	OMIM:620098
HP:0000325	Triangular face	7227	TRPS1	ORPHA:77258
HP:0000325	Triangular face	10075	HUWE1	OMIM:309590
HP:0000325	Triangular face	2074	ERCC6	OMIM:133540
HP:0000325	Triangular face	8243	SMC1A	OMIM:301044
HP:0000325	Triangular face	8925	HERC1	OMIM:617011
HP:0000325	Triangular face	8925	HERC1	ORPHA:457359
HP:0000325	Triangular face	6909	TBX2	OMIM:618223
HP:0000325	Triangular face	54517	PUS7	OMIM:618342
HP:0000325	Triangular face	29926	GMPPA	OMIM:615510
HP:0000325	Triangular face	1277	COL1A1	OMIM:259420
HP:0000325	Triangular face	1278	COL1A2	OMIM:259420
HP:0000325	Triangular face	170302	ARX	ORPHA:94083
HP:0000325	Triangular face	170302	ARX	OMIM:309510
HP:0000325	Triangular face	7707	ZNF148	OMIM:617260
HP:0000325	Triangular face	221496	LEMD2	OMIM:619322
HP:0000325	Triangular face	9871	SEC24D	OMIM:616294
HP:0000325	Triangular face	473	RERE	OMIM:616975
HP:0000325	Triangular face	55215	FANCI	OMIM:609053
HP:0000325	Triangular face	55784	MCTP2	ORPHA:1596
HP:0000325	Triangular face	5831	PYCR1	OMIM:614438
HP:0000325	Triangular face	5831	PYCR1	OMIM:612940
HP:0000325	Triangular face	90161	HS6ST2	OMIM:301025
HP:0000325	Triangular face	4784	NFIX	OMIM:602535
HP:0000325	Triangular face	10735	STAG2	OMIM:301022
HP:0000325	Triangular face	57551	TAOK1	OMIM:619575
HP:0000325	Triangular face	8831	SYNGAP1	ORPHA:544254
HP:0000325	Triangular face	201163	FLCN	OMIM:610883
HP:0000325	Triangular face	57211	ADGRG6	OMIM:616503
HP:0000325	Triangular face	29920	PYCR2	ORPHA:481152
HP:0000325	Triangular face	29920	PYCR2	OMIM:616420
HP:0000325	Triangular face	259232	NALCN	OMIM:615419
HP:0000325	Triangular face	259232	NALCN	ORPHA:371364
HP:0000325	Triangular face	3759	KCNJ2	OMIM:170390
HP:0000325	Triangular face	3759	KCNJ2	ORPHA:37553
HP:0000325	Triangular face	23389	MED13L	ORPHA:369891
HP:0000325	Triangular face	23389	MED13L	OMIM:616789
HP:0000325	Triangular face	7136	TNNI2	OMIM:601680
HP:0000325	Triangular face	23592	LEMD3	ORPHA:94063
HP:0000325	Triangular face	5718	PSMD12	ORPHA:529962
HP:0000325	Triangular face	2186	BPTF	ORPHA:529962
HP:0000325	Triangular face	3758	KCNJ1	OMIM:241200
HP:0000325	Triangular face	4613	MYCN	OMIM:164280
HP:0000325	Triangular face	23594	ORC6	OMIM:613803
HP:0000325	Triangular face	990	CDC6	OMIM:613805
HP:0000325	Triangular face	26580	BSCL2	OMIM:269700
HP:0000325	Triangular face	29957	SLC25A24	OMIM:612289
HP:0000325	Triangular face	5352	PLOD2	ORPHA:2771
HP:0000325	Triangular face	8405	SPOP	OMIM:618829
HP:0000325	Triangular face	9935	MAFB	ORPHA:2774
HP:0000325	Triangular face	9935	MAFB	OMIM:166300
HP:0000325	Triangular face	673	BRAF	ORPHA:500
HP:0000325	Triangular face	673	BRAF	OMIM:163950
HP:0000325	Triangular face	5894	RAF1	ORPHA:500
HP:0000325	Triangular face	5894	RAF1	ORPHA:648
HP:0000325	Triangular face	2887	GRB10	ORPHA:96182
HP:0000325	Triangular face	374879	ZNF699	OMIM:619488
HP:0000325	Triangular face	60676	PAPPA2	OMIM:619489
HP:0000325	Triangular face	10651	MTX2	OMIM:619127
HP:0000325	Triangular face	23112	TNRC6B	OMIM:619243
HP:0000325	Triangular face	57570	TRMT5	OMIM:616539
HP:0000325	Triangular face	50485	SMARCAL1	OMIM:242900
HP:0000325	Triangular face	118924	FRA10AC1	OMIM:620113
HP:0000325	Triangular face	4841	NONO	ORPHA:466791
HP:0000325	Triangular face	2176	FANCC	OMIM:227645
HP:0000325	Triangular face	7518	XRCC4	OMIM:616541
HP:0000325	Triangular face	5528	PPP2R5D	ORPHA:457279
HP:0000325	Triangular face	22800	RRAS2	ORPHA:648
HP:0000325	Triangular face	8216	LZTR1	ORPHA:648
HP:0000325	Triangular face	6016	RIT1	ORPHA:648
HP:0000325	Triangular face	6237	RRAS	ORPHA:648
HP:0000325	Triangular face	22808	MRAS	ORPHA:648
HP:0000325	Triangular face	3845	KRAS	ORPHA:648
HP:0000325	Triangular face	4893	NRAS	ORPHA:648
HP:0000325	Triangular face	6654	SOS1	ORPHA:648
HP:0000325	Triangular face	6655	SOS2	ORPHA:648
HP:0000325	Triangular face	5922	RASA2	ORPHA:648
HP:0000325	Triangular face	4853	NOTCH2	OMIM:610205
HP:0000325	Triangular face	55553	SOX6	OMIM:618971
HP:0000325	Triangular face	284361	EMC10	OMIM:619264
HP:0000325	Triangular face	523	ATP6V1A	OMIM:617403
HP:0000325	Triangular face	529	ATP6V1E1	OMIM:617402
HP:0000325	Triangular face	4654	MYOD1	OMIM:618975
HP:0000325	Triangular face	25886	POC1A	OMIM:614813
HP:0000325	Triangular face	871	SERPINH1	OMIM:613848
HP:0000325	Triangular face	3480	IGF1R	OMIM:270450
HP:0000325	Triangular face	3762	KCNJ5	ORPHA:37553
HP:0000325	Triangular face	5604	MAP2K1	OMIM:163950
HP:0004646	Hypoplasia of the nasal bone	5573	PRKAR1A	ORPHA:280651
HP:0004646	Hypoplasia of the nasal bone	5144	PDE4D	ORPHA:280651
HP:0004646	Hypoplasia of the nasal bone	124590	USH1G	OMIM:606943
HP:0004646	Hypoplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0030500	Yellow/white lesions of the macula	7439	BEST1	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	50939	IMPG2	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	50939	IMPG2	OMIM:616152
HP:0030500	Yellow/white lesions of the macula	3617	IMPG1	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	3617	IMPG1	OMIM:616151
HP:0030500	Yellow/white lesions of the macula	348	APOE	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	83872	HMCN1	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	3078	CFHR1	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	10878	CFHR3	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	2202	EFEMP1	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	3075	CFH	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	3426	CFI	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	8842	PROM1	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	5961	PRPH2	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	6785	ELOVL4	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	24	ABCA4	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	54714	CNGB3	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	7078	TIMP3	ORPHA:59181
HP:0030500	Yellow/white lesions of the macula	138050	HGSNAT	OMIM:616544
HP:0030500	Yellow/white lesions of the macula	224	ALDH3A2	OMIM:270200
HP:0000317	Facial myokymia	5521	PPP2R2B	OMIM:604326
HP:0000317	Facial myokymia	111	ADCY5	OMIM:606703
HP:0000317	Facial myokymia	111	ADCY5	ORPHA:324588
HP:0000317	Facial myokymia	203190	LGI3	OMIM:620007
HP:0000317	Facial myokymia	23400	ATP13A2	ORPHA:513436
HP:0000317	Facial myokymia	87178	PNPT1	OMIM:608703
HP:0000317	Facial myokymia	87178	PNPT1	ORPHA:101111
HP:0000317	Facial myokymia	6712	SPTBN2	OMIM:600224
HP:0000317	Facial myokymia	215	ABCD1	ORPHA:139396
HP:0000317	Facial myokymia	5582	PRKCG	OMIM:605361
HP:0000311	Round face	1280	COL2A1	OMIM:132450
HP:0000311	Round face	1280	COL2A1	OMIM:156550
HP:0000311	Round face	1280	COL2A1	ORPHA:485
HP:0000311	Round face	2245	FGD1	OMIM:305400
HP:0000311	Round face	2245	FGD1	ORPHA:915
HP:0000311	Round face	3376	IARS1	OMIM:617093
HP:0000311	Round face	3376	IARS1	ORPHA:541423
HP:0000311	Round face	8243	SMC1A	OMIM:301044
HP:0000311	Round face	1291	COL6A1	OMIM:254090
HP:0000311	Round face	1292	COL6A2	OMIM:254090
HP:0000311	Round face	1293	COL6A3	OMIM:254090
HP:0000311	Round face	104	ADARB1	OMIM:618862
HP:0000311	Round face	340533	NEXMIF	OMIM:300912
HP:0000311	Round face	9158	FIBP	ORPHA:500095
HP:0000311	Round face	9158	FIBP	OMIM:617107
HP:0000311	Round face	22856	CHSY1	ORPHA:363417
HP:0000311	Round face	23135	KDM6B	OMIM:618505
HP:0000311	Round face	100151683	RNU4ATAC	OMIM:210710
HP:0000311	Round face	29123	ANKRD11	ORPHA:2332
HP:0000311	Round face	29123	ANKRD11	OMIM:148050
HP:0000311	Round face	9759	HDAC4	ORPHA:1001
HP:0000311	Round face	9759	HDAC4	OMIM:600430
HP:0000311	Round face	775	CACNA1C	OMIM:620029
HP:0000311	Round face	775	CACNA1C	OMIM:601005
HP:0000311	Round face	2778	GNAS	OMIM:219080
HP:0000311	Round face	2778	GNAS	ORPHA:94089
HP:0000311	Round face	2778	GNAS	OMIM:612463
HP:0000311	Round face	2778	GNAS	OMIM:612462
HP:0000311	Round face	2778	GNAS	ORPHA:79443
HP:0000311	Round face	2778	GNAS	ORPHA:79444
HP:0000311	Round face	2778	GNAS	ORPHA:79445
HP:0000311	Round face	2778	GNAS	OMIM:103580
HP:0000311	Round face	5332	PLCB4	OMIM:614669
HP:0000311	Round face	1788	DNMT3A	OMIM:615879
HP:0000311	Round face	1788	DNMT3A	ORPHA:404443
HP:0000311	Round face	145173	B3GLCT	ORPHA:709
HP:0000311	Round face	145173	B3GLCT	OMIM:261540
HP:0000311	Round face	8675	STX16	ORPHA:94089
HP:0000311	Round face	91147	TMEM67	OMIM:216360
HP:0000311	Round face	27125	AFF4	ORPHA:444077
HP:0000311	Round face	27125	AFF4	OMIM:616368
HP:0000311	Round face	5575	PRKAR1B	OMIM:619680
HP:0000311	Round face	1062	CENPE	OMIM:616051
HP:0000311	Round face	23030	KDM4B	OMIM:619320
HP:0000311	Round face	55790	CSGALNACT1	OMIM:618870
HP:0000311	Round face	4010	LMX1B	ORPHA:495818
HP:0000311	Round face	6812	STXBP1	ORPHA:495818
HP:0000311	Round face	72	ACTG2	ORPHA:2604
HP:0000311	Round face	50940	PDE11A	OMIM:610475
HP:0000311	Round face	1363	CPE	OMIM:619326
HP:0000311	Round face	129563	DIS3L2	ORPHA:2849
HP:0000311	Round face	23384	SPECC1L	ORPHA:1519
HP:0000311	Round face	10472	ZBTB18	ORPHA:36367
HP:0000311	Round face	10472	ZBTB18	OMIM:612337
HP:0000311	Round face	5189	PEX1	OMIM:214100
HP:0000311	Round face	5189	PEX1	ORPHA:3220
HP:0000311	Round face	2542	SLC37A4	ORPHA:79259
HP:0000311	Round face	64175	P3H1	OMIM:610915
HP:0000311	Round face	5934	RBL2	OMIM:619690
HP:0000311	Round face	56992	KIF15	ORPHA:261323
HP:0000311	Round face	6452	SH3BP2	OMIM:118400
HP:0000311	Round face	84992	PIGY	ORPHA:247262
HP:0000311	Round face	84720	PIGO	ORPHA:247262
HP:0000311	Round face	93210	PGAP3	ORPHA:247262
HP:0000311	Round face	284098	PIGW	ORPHA:247262
HP:0000311	Round face	27315	PGAP2	ORPHA:247262
HP:0000311	Round face	55650	PIGV	ORPHA:247262
HP:0000311	Round face	9487	PIGL	ORPHA:247262
HP:0000311	Round face	84068	SLC10A7	OMIM:618363
HP:0000311	Round face	64131	XYLT1	OMIM:615777
HP:0000311	Round face	5573	PRKAR1A	OMIM:610489
HP:0000311	Round face	5573	PRKAR1A	ORPHA:280651
HP:0000311	Round face	2200	FBN1	ORPHA:969
HP:0000311	Round face	2200	FBN1	OMIM:102370
HP:0000311	Round face	4054	LTBP3	ORPHA:969
HP:0000311	Round face	4054	LTBP3	OMIM:617809
HP:0000311	Round face	23389	MED13L	ORPHA:369891
HP:0000311	Round face	23389	MED13L	OMIM:616789
HP:0000311	Round face	8726	EED	OMIM:617561
HP:0000311	Round face	8726	EED	ORPHA:3447
HP:0000311	Round face	10524	KAT5	OMIM:619103
HP:0000311	Round face	1501	CTNND2	ORPHA:281
HP:0000311	Round face	9037	SEMA5A	ORPHA:281
HP:0000311	Round face	4000	LMNA	OMIM:151660
HP:0000311	Round face	4000	LMNA	ORPHA:280365
HP:0000311	Round face	4000	LMNA	ORPHA:2348
HP:0000311	Round face	4297	KMT2A	ORPHA:319182
HP:0000311	Round face	23327	NEDD4L	OMIM:617201
HP:0000311	Round face	83696	TRAPPC9	ORPHA:352530
HP:0000311	Round face	5144	PDE4D	OMIM:614613
HP:0000311	Round face	5144	PDE4D	ORPHA:280651
HP:0000311	Round face	1301	COL11A1	ORPHA:2021
HP:0000311	Round face	1302	COL11A2	ORPHA:2021
HP:0000311	Round face	2773	GNAI3	OMIM:602483
HP:0000311	Round face	7840	ALMS1	ORPHA:64
HP:0000311	Round face	9895	TECPR2	OMIM:615031
HP:0000311	Round face	9895	TECPR2	ORPHA:320385
HP:0000311	Round face	23512	SUZ12	OMIM:618786
HP:0000311	Round face	23512	SUZ12	ORPHA:3447
HP:0000311	Round face	149371	EXOC8	OMIM:619076
HP:0000311	Round face	7862	BRPF1	OMIM:617333
HP:0000311	Round face	1861	TOR1A	OMIM:618947
HP:0000311	Round face	9841	ZBTB24	OMIM:614069
HP:0000311	Round face	5828	PEX2	OMIM:614866
HP:0000311	Round face	79798	ARMC5	OMIM:615954
HP:0000311	Round face	5190	PEX6	ORPHA:3220
HP:0000311	Round face	9719	ADAMTSL2	OMIM:231050
HP:0000311	Round face	3675	ITGA3	OMIM:614748
HP:0000311	Round face	5728	PTEN	ORPHA:744
HP:0000311	Round face	207	AKT1	ORPHA:744
HP:0000311	Round face	4893	NRAS	OMIM:137550
HP:0000311	Round face	3265	HRAS	OMIM:137550
HP:0000311	Round face	6182	MRPL12	OMIM:618951
HP:0000311	Round face	28957	MRPS28	OMIM:618958
HP:0000311	Round face	6901	TAFAZZIN	OMIM:302060
HP:0000311	Round face	93587	TRMT10A	ORPHA:391408
HP:0000311	Round face	84919	PPP1R15B	ORPHA:391408
HP:0000311	Round face	124583	CANT1	OMIM:251450
HP:0000311	Round face	23162	MAPK8IP3	OMIM:618443
HP:0000311	Round face	79989	IFT56	OMIM:619534
HP:0000311	Round face	55023	PHIP	OMIM:617991
HP:0000311	Round face	10491	CRTAP	OMIM:610682
HP:0000311	Round face	2146	EZH2	OMIM:277590
HP:0000311	Round face	2146	EZH2	ORPHA:3447
HP:0000311	Round face	1968	EIF2S3	ORPHA:85282
HP:0000311	Round face	79791	FBXO31	OMIM:615979
HP:0000311	Round face	64324	NSD1	ORPHA:3447
HP:0000311	Round face	9427	ECEL1	OMIM:615065
HP:0000311	Round face	3239	HOXD13	OMIM:113300
HP:0000311	Round face	2702	GJA5	OMIM:612474
HP:0000311	Round face	2703	GJA8	OMIM:612474
HP:0000311	Round face	51025	PAM16	OMIM:613320
HP:0000311	Round face	10801	SEPTIN9	ORPHA:2901
HP:0030502	Retinoschisis	4942	OAT	OMIM:258870
HP:0030502	Retinoschisis	83552	MFRP	OMIM:611040
HP:0030502	Retinoschisis	10002	NR2E3	OMIM:268100
HP:0030502	Retinoschisis	2673	GFPT1	OMIM:610542
HP:0030502	Retinoschisis	6247	RS1	ORPHA:792
HP:0030502	Retinoschisis	6247	RS1	OMIM:312700
HP:0030502	Retinoschisis	1181	CLCN2	OMIM:615651
HP:0030502	Retinoschisis	71	ACTG1	ORPHA:2995
HP:0030502	Retinoschisis	60	ACTB	ORPHA:2995
HP:0030501	Macular crystals	138050	HGSNAT	OMIM:616544
HP:0030501	Macular crystals	224	ALDH3A2	OMIM:270200
HP:0030507	Retinal crystals	189	AGXT	OMIM:259900
HP:0030506	Yellow/white lesions of the retina	23554	TSPAN12	OMIM:613310
HP:0030506	Yellow/white lesions of the retina	8322	FZD4	OMIM:133780
HP:0030506	Yellow/white lesions of the retina	79797	ZNF408	OMIM:616468
HP:0030506	Yellow/white lesions of the retina	50939	IMPG2	ORPHA:99000
HP:0030506	Yellow/white lesions of the retina	50939	IMPG2	OMIM:616152
HP:0030506	Yellow/white lesions of the retina	63901	FAM111A	OMIM:127000
HP:0030506	Yellow/white lesions of the retina	63901	FAM111A	ORPHA:93325
HP:0030506	Yellow/white lesions of the retina	4041	LRP5	OMIM:259770
HP:0030506	Yellow/white lesions of the retina	5925	RB1	OMIM:180200
HP:0030506	Yellow/white lesions of the retina	80169	CTC1	OMIM:612199
HP:0030506	Yellow/white lesions of the retina	26277	TINF2	OMIM:268130
HP:0030506	Yellow/white lesions of the retina	26277	TINF2	OMIM:613990
HP:0030506	Yellow/white lesions of the retina	7840	ALMS1	ORPHA:64
HP:0030506	Yellow/white lesions of the retina	114902	C1QTNF5	ORPHA:67042
HP:0030506	Yellow/white lesions of the retina	3617	IMPG1	OMIM:616151
HP:0030506	Yellow/white lesions of the retina	83715	ESPN	OMIM:618632
HP:0030506	Yellow/white lesions of the retina	5961	PRPH2	OMIM:608161
HP:0030506	Yellow/white lesions of the retina	5961	PRPH2	ORPHA:75377
HP:0030506	Yellow/white lesions of the retina	10516	FBLN5	OMIM:608895
HP:0030506	Yellow/white lesions of the retina	1495	CTNNA1	OMIM:608970
HP:0030506	Yellow/white lesions of the retina	2978	GUCA1A	ORPHA:75377
HP:0030506	Yellow/white lesions of the retina	4693	NDP	OMIM:305390
HP:0030506	Yellow/white lesions of the retina	7439	BEST1	OMIM:611809
HP:0030506	Yellow/white lesions of the retina	7439	BEST1	OMIM:613194
HP:0030506	Yellow/white lesions of the retina	22999	RIMS1	OMIM:603649
HP:0030506	Yellow/white lesions of the retina	5322	PLA2G5	OMIM:228980
HP:0030506	Yellow/white lesions of the retina	3000	GUCY2D	OMIM:204000
HP:0030506	Yellow/white lesions of the retina	26022	TMEM98	OMIM:615972
HP:0030506	Yellow/white lesions of the retina	9227	LRAT	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	55812	SPATA7	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	6121	RPE65	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	167691	LCA5	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	10594	PRPF8	OMIM:600059
HP:0030506	Yellow/white lesions of the retina	26160	IFT172	OMIM:616394
HP:0030506	Yellow/white lesions of the retina	64131	XYLT1	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	64132	XYLT2	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	368	ABCC6	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	83552	MFRP	OMIM:611040
HP:0030506	Yellow/white lesions of the retina	2202	EFEMP1	ORPHA:75376
HP:0030506	Yellow/white lesions of the retina	3075	CFH	ORPHA:75376
HP:0030506	Yellow/white lesions of the retina	3426	CFI	ORPHA:75376
HP:0030506	Yellow/white lesions of the retina	348	APOE	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	83872	HMCN1	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	3078	CFHR1	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	10878	CFHR3	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	8842	PROM1	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	6785	ELOVL4	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	24	ABCA4	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	54714	CNGB3	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	7078	TIMP3	ORPHA:59181
HP:0030506	Yellow/white lesions of the retina	138050	HGSNAT	OMIM:616544
HP:0030506	Yellow/white lesions of the retina	224	ALDH3A2	OMIM:270200
HP:0030506	Yellow/white lesions of the retina	23503	ZFYVE26	ORPHA:100996
HP:0030506	Yellow/white lesions of the retina	4758	NEU1	ORPHA:93400
HP:0030506	Yellow/white lesions of the retina	189	AGXT	OMIM:259900
HP:0030506	Yellow/white lesions of the retina	5959	RDH5	OMIM:136880
HP:0030506	Yellow/white lesions of the retina	6010	RHO	OMIM:136880
HP:0030506	Yellow/white lesions of the retina	6017	RLBP1	OMIM:136880
HP:0030506	Yellow/white lesions of the retina	11277	TREX1	ORPHA:247691
HP:0030506	Yellow/white lesions of the retina	3769	KCNJ13	OMIM:193230
HP:0030506	Yellow/white lesions of the retina	57545	CC2D2A	OMIM:619845
HP:0030506	Yellow/white lesions of the retina	64802	NMNAT1	OMIM:608553
HP:0030506	Yellow/white lesions of the retina	7275	TUB	OMIM:616188
HP:0030505	Nummular pigmentation of the fundus	57670	KIAA1549	OMIM:618613
HP:0030505	Nummular pigmentation of the fundus	1121	CHM	OMIM:303100
HP:0030505	Nummular pigmentation of the fundus	23418	CRB1	OMIM:613835
HP:0030505	Nummular pigmentation of the fundus	6121	RPE65	OMIM:618697
HP:0030503	Macular telangiectasia	4693	NDP	ORPHA:891
HP:0030503	Macular telangiectasia	1499	CTNNB1	ORPHA:891
HP:0030503	Macular telangiectasia	23554	TSPAN12	ORPHA:891
HP:0030503	Macular telangiectasia	4041	LRP5	ORPHA:891
HP:0030503	Macular telangiectasia	79797	ZNF408	ORPHA:891
HP:0030503	Macular telangiectasia	8322	FZD4	ORPHA:891
HP:0004660	Hypoplasia of facial musculature	10992	SF3B2	OMIM:164210
HP:0004661	Frontalis muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0004661	Frontalis muscle weakness	4649	MYO9A	ORPHA:98914
HP:0004661	Frontalis muscle weakness	1305	COL13A1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	1103	CHAT	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6843	VAMP1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	375790	AGRN	ORPHA:98914
HP:0004661	Frontalis muscle weakness	127833	SYT2	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6616	SNAP25	ORPHA:98914
HP:0000319	Smooth philtrum	8243	SMC1A	OMIM:300590
HP:0000319	Smooth philtrum	8243	SMC1A	OMIM:301044
HP:0000319	Smooth philtrum	158	ADSL	OMIM:103050
HP:0000319	Smooth philtrum	158	ADSL	ORPHA:46
HP:0000319	Smooth philtrum	11253	MAN1B1	ORPHA:397941
HP:0000319	Smooth philtrum	11253	MAN1B1	OMIM:614202
HP:0000319	Smooth philtrum	23394	ADNP	ORPHA:404448
HP:0000319	Smooth philtrum	23394	ADNP	OMIM:615873
HP:0000319	Smooth philtrum	8367	H4C5	OMIM:619950
HP:0000319	Smooth philtrum	50651	SLC45A1	OMIM:617532
HP:0000319	Smooth philtrum	5885	RAD21	OMIM:614701
HP:0000319	Smooth philtrum	55627	SMPD4	OMIM:618622
HP:0000319	Smooth philtrum	57539	WDR35	OMIM:613610
HP:0000319	Smooth philtrum	55209	SETD5	ORPHA:404440
HP:0000319	Smooth philtrum	55209	SETD5	OMIM:615761
HP:0000319	Smooth philtrum	10743	RAI1	ORPHA:477817
HP:0000319	Smooth philtrum	4281	MID1	OMIM:300000
HP:0000319	Smooth philtrum	374654	KIF7	OMIM:200990
HP:0000319	Smooth philtrum	9578	CDC42BPB	OMIM:619841
HP:0000319	Smooth philtrum	3020	H3-3A	OMIM:619720
HP:0000319	Smooth philtrum	613	BCR	ORPHA:261330
HP:0000319	Smooth philtrum	1399	CRKL	ORPHA:261330
HP:0000319	Smooth philtrum	5594	MAPK1	ORPHA:261330
HP:0000319	Smooth philtrum	89910	UBE3B	OMIM:244450
HP:0000319	Smooth philtrum	89910	UBE3B	ORPHA:2707
HP:0000319	Smooth philtrum	55690	PACS1	OMIM:615009
HP:0000319	Smooth philtrum	55690	PACS1	ORPHA:329224
HP:0000319	Smooth philtrum	129563	DIS3L2	ORPHA:2849
HP:0000319	Smooth philtrum	10472	ZBTB18	ORPHA:36367
HP:0000319	Smooth philtrum	10472	ZBTB18	OMIM:612337
HP:0000319	Smooth philtrum	26153	KIF26A	OMIM:620156
HP:0000319	Smooth philtrum	9382	COG1	OMIM:611209
HP:0000319	Smooth philtrum	9382	COG1	ORPHA:263508
HP:0000319	Smooth philtrum	56992	KIF15	ORPHA:261323
HP:0000319	Smooth philtrum	83696	TRAPPC9	OMIM:613192
HP:0000319	Smooth philtrum	55870	ASH1L	OMIM:617796
HP:0000319	Smooth philtrum	3899	AFF3	OMIM:619297
HP:0000319	Smooth philtrum	23545	ATP6V0A2	ORPHA:2834
HP:0000319	Smooth philtrum	23545	ATP6V0A2	OMIM:278250
HP:0000319	Smooth philtrum	23545	ATP6V0A2	ORPHA:357074
HP:0000319	Smooth philtrum	8546	AP3B1	OMIM:608233
HP:0000319	Smooth philtrum	10484	SEC23A	OMIM:607812
HP:0000319	Smooth philtrum	10484	SEC23A	ORPHA:50814
HP:0000319	Smooth philtrum	10087	CERT1	OMIM:616351
HP:0000319	Smooth philtrum	22884	WDR37	OMIM:618652
HP:0000319	Smooth philtrum	1193	CLIC2	ORPHA:324410
HP:0000319	Smooth philtrum	1656	DDX6	OMIM:618653
HP:0000319	Smooth philtrum	23036	ZNF292	OMIM:619188
HP:0000319	Smooth philtrum	57178	ZMIZ1	OMIM:618659
HP:0000319	Smooth philtrum	55012	PPP2R3C	OMIM:618419
HP:0000319	Smooth philtrum	23314	SATB2	OMIM:612313
HP:0000319	Smooth philtrum	23314	SATB2	ORPHA:576283
HP:0000319	Smooth philtrum	26057	ANKRD17	OMIM:619504
HP:0000319	Smooth philtrum	55623	THUMPD1	OMIM:619989
HP:0000319	Smooth philtrum	25942	SIN3A	OMIM:613406
HP:0000319	Smooth philtrum	25942	SIN3A	ORPHA:94065
HP:0000319	Smooth philtrum	1499	CTNNB1	ORPHA:404473
HP:0000319	Smooth philtrum	3192	HNRNPU	ORPHA:238769
HP:0000319	Smooth philtrum	253738	EBF3	OMIM:617330
HP:0000319	Smooth philtrum	2200	FBN1	OMIM:614185
HP:0000319	Smooth philtrum	5792	PTPRF	OMIM:616001
HP:0000319	Smooth philtrum	8558	CDK10	OMIM:617694
HP:0000319	Smooth philtrum	285175	UNC80	OMIM:616801
HP:0000319	Smooth philtrum	285175	UNC80	ORPHA:371364
HP:0000319	Smooth philtrum	3211	HOXB1	OMIM:614744
HP:0000319	Smooth philtrum	9091	PIGQ	OMIM:618548
HP:0000319	Smooth philtrum	6899	TBX1	ORPHA:1727
HP:0000319	Smooth philtrum	6134	RPL10	ORPHA:459070
HP:0000319	Smooth philtrum	6134	RPL10	OMIM:300998
HP:0000319	Smooth philtrum	9719	ADAMTSL2	OMIM:231050
HP:0000319	Smooth philtrum	11128	POLR3A	OMIM:264090
HP:0000319	Smooth philtrum	285362	SUMF1	ORPHA:585
HP:0000319	Smooth philtrum	79796	ALG9	ORPHA:79328
HP:0000319	Smooth philtrum	79796	ALG9	OMIM:263210
HP:0000319	Smooth philtrum	283209	PGM2L1	OMIM:620191
HP:0000319	Smooth philtrum	79718	TBL1XR1	OMIM:602342
HP:0000319	Smooth philtrum	79718	TBL1XR1	ORPHA:487825
HP:0000319	Smooth philtrum	79228	THOC6	ORPHA:363444
HP:0000319	Smooth philtrum	7358	UGDH	OMIM:618792
HP:0000319	Smooth philtrum	9772	TMEM94	OMIM:618316
HP:0000319	Smooth philtrum	124583	CANT1	OMIM:251450
HP:0000319	Smooth philtrum	10430	TMEM147	OMIM:620075
HP:0000319	Smooth philtrum	8813	DPM1	OMIM:608799
HP:0000319	Smooth philtrum	8813	DPM1	ORPHA:79322
HP:0000319	Smooth philtrum	8242	KDM5C	OMIM:300534
HP:0000319	Smooth philtrum	5077	PAX3	OMIM:193500
HP:0000319	Smooth philtrum	9968	MED12	OMIM:300895
HP:0000319	Smooth philtrum	6611	SMS	OMIM:309583
HP:0000319	Smooth philtrum	6611	SMS	ORPHA:3063
HP:0000319	Smooth philtrum	147372	CCBE1	OMIM:235510
HP:0000319	Smooth philtrum	6595	SMARCA2	OMIM:601358
HP:0000319	Smooth philtrum	6595	SMARCA2	ORPHA:3051
HP:0000319	Smooth philtrum	10533	ATG7	OMIM:619422
HP:0000319	Smooth philtrum	8295	TRRAP	OMIM:618454
HP:0000319	Smooth philtrum	9742	IFT140	OMIM:266920
HP:0000319	Smooth philtrum	54903	MKS1	OMIM:249000
HP:0000319	Smooth philtrum	8621	CDK13	OMIM:617360
HP:0000319	Smooth philtrum	2702	GJA5	OMIM:612474
HP:0000319	Smooth philtrum	2703	GJA8	OMIM:612474
HP:0000319	Smooth philtrum	4212	MEIS2	ORPHA:261190
HP:0000319	Smooth philtrum	22907	DHX30	OMIM:617804
HP:0000319	Smooth philtrum	51013	EXOSC1	OMIM:619304
HP:0000319	Smooth philtrum	55770	EXOC2	OMIM:619306
HP:0000319	Smooth philtrum	7227	TRPS1	OMIM:190351
HP:0000319	Smooth philtrum	6857	SYT1	OMIM:618218
HP:0000319	Smooth philtrum	6857	SYT1	ORPHA:522077
HP:0000319	Smooth philtrum	81603	TRIM8	OMIM:619428
HP:0000319	Smooth philtrum	3720	JARID2	OMIM:620098
HP:0000319	Smooth philtrum	3480	IGF1R	ORPHA:73273
HP:0000319	Smooth philtrum	3480	IGF1R	OMIM:270450
HP:0000319	Smooth philtrum	9488	PIGB	OMIM:618580
HP:0000319	Smooth philtrum	91949	COG7	OMIM:608779
HP:0000319	Smooth philtrum	1281	COL3A1	OMIM:618343
HP:0000319	Smooth philtrum	54517	PUS7	OMIM:618342
HP:0000319	Smooth philtrum	10765	KDM5B	OMIM:618109
HP:0000319	Smooth philtrum	8573	CASK	OMIM:300749
HP:0000319	Smooth philtrum	57122	NUP107	OMIM:618348
HP:0000319	Smooth philtrum	57122	NUP107	OMIM:616730
HP:0000319	Smooth philtrum	128869	PIGU	OMIM:618590
HP:0000319	Smooth philtrum	7707	ZNF148	OMIM:617260
HP:0000319	Smooth philtrum	221496	LEMD2	OMIM:619322
HP:0000319	Smooth philtrum	4854	NOTCH3	OMIM:130720
HP:0000319	Smooth philtrum	4854	NOTCH3	ORPHA:2789
HP:0000319	Smooth philtrum	8882	ZPR1	OMIM:619321
HP:0000319	Smooth philtrum	473	RERE	OMIM:616975
HP:0000319	Smooth philtrum	10157	AASS	ORPHA:2203
HP:0000319	Smooth philtrum	998	CDC42	OMIM:616737
HP:0000319	Smooth philtrum	998	CDC42	ORPHA:487796
HP:0000319	Smooth philtrum	4081	MAB21L1	OMIM:618479
HP:0000319	Smooth philtrum	9126	SMC3	OMIM:610759
HP:0000319	Smooth philtrum	64135	IFIH1	OMIM:182250
HP:0000319	Smooth philtrum	1725	DHPS	OMIM:618480
HP:0000319	Smooth philtrum	10735	STAG2	OMIM:301022
HP:0000319	Smooth philtrum	23221	RHOBTB2	OMIM:618004
HP:0000319	Smooth philtrum	55906	ZC4H2	OMIM:314580
HP:0000319	Smooth philtrum	10265	IRX5	OMIM:611174
HP:0000319	Smooth philtrum	201163	FLCN	OMIM:610883
HP:0000319	Smooth philtrum	29920	PYCR2	ORPHA:481152
HP:0000319	Smooth philtrum	29920	PYCR2	OMIM:616420
HP:0000319	Smooth philtrum	9969	MED13	OMIM:618009
HP:0000319	Smooth philtrum	259232	NALCN	OMIM:615419
HP:0000319	Smooth philtrum	259232	NALCN	ORPHA:371364
HP:0000319	Smooth philtrum	1000	CDH2	OMIM:618929
HP:0000319	Smooth philtrum	22827	PUF60	ORPHA:508488
HP:0000319	Smooth philtrum	10943	MSL3	OMIM:301032
HP:0000319	Smooth philtrum	84188	FAR1	ORPHA:438178
HP:0000319	Smooth philtrum	25	ABL1	OMIM:617602
HP:0000319	Smooth philtrum	2475	MTOR	OMIM:616638
HP:0000319	Smooth philtrum	5000	ORC4	OMIM:613800
HP:0000319	Smooth philtrum	6304	SATB1	OMIM:619229
HP:0000319	Smooth philtrum	2313	FLI1	ORPHA:2308
HP:0000319	Smooth philtrum	8943	AP3D1	OMIM:617050
HP:0000319	Smooth philtrum	84265	POLR3GL	OMIM:619234
HP:0000319	Smooth philtrum	2290	FOXG1	ORPHA:261144
HP:0000319	Smooth philtrum	6711	SPTBN1	OMIM:619475
HP:0000319	Smooth philtrum	1387	CREBBP	OMIM:180849
HP:0000319	Smooth philtrum	2033	EP300	OMIM:180849
HP:0000319	Smooth philtrum	1859	DYRK1A	OMIM:614104
HP:0000319	Smooth philtrum	29957	SLC25A24	OMIM:612289
HP:0000319	Smooth philtrum	91461	PKDCC	OMIM:618821
HP:0000319	Smooth philtrum	25914	RTTN	ORPHA:468631
HP:0000319	Smooth philtrum	8405	SPOP	OMIM:618828
HP:0000319	Smooth philtrum	63932	STEEP1	OMIM:301013
HP:0000319	Smooth philtrum	10682	EBP	OMIM:300960
HP:0000319	Smooth philtrum	23556	PIGN	ORPHA:280633
HP:0000319	Smooth philtrum	5290	PIK3CA	OMIM:602501
HP:0000319	Smooth philtrum	2571	GAD1	OMIM:619124
HP:0000319	Smooth philtrum	374879	ZNF699	OMIM:619488
HP:0000319	Smooth philtrum	55617	TASP1	OMIM:618950
HP:0000319	Smooth philtrum	2316	FLNA	OMIM:300048
HP:0000319	Smooth philtrum	8239	USP9X	OMIM:300968
HP:0000319	Smooth philtrum	54870	QRICH1	OMIM:617982
HP:0000319	Smooth philtrum	29123	ANKRD11	ORPHA:261250
HP:0000319	Smooth philtrum	9373	PLAA	ORPHA:521426
HP:0000319	Smooth philtrum	9373	PLAA	OMIM:617527
HP:0000319	Smooth philtrum	5500	PPP1CB	OMIM:617506
HP:0000319	Smooth philtrum	118924	FRA10AC1	OMIM:620113
HP:0000319	Smooth philtrum	4094	MAF	OMIM:601088
HP:0000319	Smooth philtrum	54888	NSUN2	OMIM:611091
HP:0000319	Smooth philtrum	9320	TRIP12	OMIM:617752
HP:0000319	Smooth philtrum	523	ATP6V1A	ORPHA:357074
HP:0000319	Smooth philtrum	529	ATP6V1E1	ORPHA:357074
HP:0000319	Smooth philtrum	10020	GNE	OMIM:269921
HP:0000319	Smooth philtrum	10020	GNE	ORPHA:3166
HP:0000319	Smooth philtrum	6651	SON	ORPHA:500150
HP:0000319	Smooth philtrum	25974	MMACHC	ORPHA:79282
HP:0000319	Smooth philtrum	25974	MMACHC	OMIM:277400
HP:0000319	Smooth philtrum	5557	PRIM1	OMIM:620005
HP:0000319	Smooth philtrum	10225	CD96	ORPHA:1308
HP:0000319	Smooth philtrum	55901	THSD1	OMIM:620244
HP:0000319	Smooth philtrum	10079	ATP9A	OMIM:620242
HP:0000319	Smooth philtrum	2801	GOLGA2	OMIM:620240
HP:0000319	Smooth philtrum	55181	SMG8	OMIM:619268
HP:0000319	Smooth philtrum	55331	ACER3	OMIM:617762
HP:0000319	Smooth philtrum	92935	MARS2	OMIM:616430
HP:0000319	Smooth philtrum	7043	TGFB3	OMIM:615582
HP:0000319	Smooth philtrum	57728	WDR19	OMIM:614378
HP:0000319	Smooth philtrum	10844	TUBGCP2	OMIM:618737
HP:0000319	Smooth philtrum	1460	CSNK2B	OMIM:618732
HP:0000319	Smooth philtrum	4654	MYOD1	OMIM:618975
HP:0000319	Smooth philtrum	5052	PRDX1	OMIM:277400
HP:0004664	Facial midline hemangioma	1836	SLC26A2	ORPHA:56304
HP:0030513	Difficulty adjusting from light to dark	778	CACNA1F	ORPHA:178333
HP:0030512	Difficulty adjusting to changes in luminance	778	CACNA1F	ORPHA:178333
HP:0030511	Bradyopsia	8787	RGS9	OMIM:608415
HP:0030511	Bradyopsia	773	CACNA1A	ORPHA:98758
HP:0030517	Heteronymous hemianopia	64072	CDH23	ORPHA:91347
HP:0030517	Heteronymous hemianopia	64072	CDH23	ORPHA:2965
HP:0030517	Heteronymous hemianopia	4221	MEN1	ORPHA:2965
HP:0030517	Heteronymous hemianopia	9049	AIP	ORPHA:2965
HP:0030517	Heteronymous hemianopia	8314	BAP1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	4771	NF2	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6598	SMARCB1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	5155	PDGFB	ORPHA:2495
HP:0030517	Heteronymous hemianopia	84231	TRAF7	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6608	SMO	ORPHA:2495
HP:0030517	Heteronymous hemianopia	207	AKT1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	5290	PIK3CA	ORPHA:2495
HP:0030517	Heteronymous hemianopia	7015	TERT	ORPHA:2495
HP:0030517	Heteronymous hemianopia	51684	SUFU	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6605	SMARCE1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	1499	CTNNB1	ORPHA:54595
HP:0030517	Heteronymous hemianopia	673	BRAF	ORPHA:54595
HP:0030516	Homonymous hemianopia	23600	AMACR	ORPHA:79095
HP:0030515	Moderately reduced visual acuity	4041	LRP5	ORPHA:2788
HP:0030515	Moderately reduced visual acuity	10059	DNM1L	ORPHA:98673
HP:0030515	Moderately reduced visual acuity	4976	OPA1	ORPHA:98673
HP:0030515	Moderately reduced visual acuity	5879	RAC1	ORPHA:500159
HP:0030515	Moderately reduced visual acuity	54714	CNGB3	OMIM:262300
HP:0030515	Moderately reduced visual acuity	50939	IMPG2	OMIM:616152
HP:0030515	Moderately reduced visual acuity	3617	IMPG1	OMIM:616151
HP:0004673	Decreased facial expression	7337	UBE3A	ORPHA:238446
HP:0004673	Decreased facial expression	2218	FKTN	ORPHA:272
HP:0004673	Decreased facial expression	2218	FKTN	OMIM:236670
HP:0004673	Decreased facial expression	3763	KCNJ6	ORPHA:435628
HP:0004673	Decreased facial expression	79876	UBA5	OMIM:617132
HP:0004673	Decreased facial expression	10159	ATP6AP2	ORPHA:363654
HP:0004673	Decreased facial expression	8106	PABPN1	ORPHA:270
HP:0004673	Decreased facial expression	8106	PABPN1	OMIM:164300
HP:0004673	Decreased facial expression	4361	MRE11	ORPHA:251347
HP:0004673	Decreased facial expression	22947	DUX4L1	ORPHA:269
HP:0004673	Decreased facial expression	1789	DNMT3B	ORPHA:269
HP:0004673	Decreased facial expression	2483	FRG1	ORPHA:269
HP:0004673	Decreased facial expression	23347	SMCHD1	ORPHA:269
HP:0004673	Decreased facial expression	100288687	DUX4	ORPHA:269
HP:0004673	Decreased facial expression	7084	TK2	ORPHA:254886
HP:0004673	Decreased facial expression	5428	POLG	ORPHA:254886
HP:0004673	Decreased facial expression	5621	PRNP	ORPHA:157941
HP:0004673	Decreased facial expression	51506	UFC1	OMIM:618076
HP:0004673	Decreased facial expression	79152	FA2H	ORPHA:171629
HP:0004673	Decreased facial expression	8085	KMT2D	ORPHA:2322
HP:0004673	Decreased facial expression	7403	KDM6A	ORPHA:2322
HP:0004673	Decreased facial expression	5610	EIF2AK2	OMIM:618877
HP:0004673	Decreased facial expression	22954	TRIM32	ORPHA:1878
HP:0004673	Decreased facial expression	29954	POMT2	OMIM:236670
HP:0004673	Decreased facial expression	9215	LARGE1	OMIM:236670
HP:0004673	Decreased facial expression	79147	FKRP	OMIM:236670
HP:0004673	Decreased facial expression	10585	POMT1	OMIM:236670
HP:0004673	Decreased facial expression	7054	TH	OMIM:605407
HP:0004673	Decreased facial expression	5980	REV3L	ORPHA:570
HP:0004673	Decreased facial expression	23129	PLXND1	ORPHA:570
HP:0004673	Decreased facial expression	4621	MYH3	OMIM:193700
HP:0004673	Decreased facial expression	5080	PAX6	ORPHA:1065
HP:0004673	Decreased facial expression	3708	ITPR1	ORPHA:1065
HP:0004673	Decreased facial expression	6575	SLC20A2	OMIM:213600
HP:0004673	Decreased facial expression	5155	PDGFB	OMIM:213600
HP:0004673	Decreased facial expression	5159	PDGFRB	OMIM:213600
HP:0004673	Decreased facial expression	3339	HSPG2	OMIM:255800
HP:0004673	Decreased facial expression	3339	HSPG2	ORPHA:800
HP:0004673	Decreased facial expression	23400	ATP13A2	OMIM:606693
HP:0004673	Decreased facial expression	538	ATP7A	ORPHA:565
HP:0004673	Decreased facial expression	2332	FMR1	OMIM:300623
HP:0004673	Decreased facial expression	54101	RIPK4	OMIM:263650
HP:0004673	Decreased facial expression	80025	PANK2	ORPHA:216866
HP:0004673	Decreased facial expression	523	ATP6V1A	OMIM:617403
HP:0004673	Decreased facial expression	2747	GLUD2	OMIM:168600
HP:0004673	Decreased facial expression	126	ADH1C	OMIM:168600
HP:0004673	Decreased facial expression	4137	MAPT	OMIM:168600
HP:0004673	Decreased facial expression	2629	GBA1	OMIM:168600
HP:0004673	Decreased facial expression	4929	NR4A2	OMIM:168600
HP:0004673	Decreased facial expression	6908	TBP	OMIM:168600
HP:0004673	Decreased facial expression	4576	MT-TT	OMIM:168600
HP:0004673	Decreased facial expression	9627	SNCAIP	OMIM:168600
HP:0004673	Decreased facial expression	6311	ATXN2	OMIM:168600
HP:0004673	Decreased facial expression	6315	ATXN8OS	OMIM:168600
HP:0004673	Decreased facial expression	1639	DCTN1	OMIM:168605
HP:0004673	Decreased facial expression	291	SLC25A4	ORPHA:254892
HP:0004673	Decreased facial expression	56652	TWNK	ORPHA:254892
HP:0004673	Decreased facial expression	11232	POLG2	ORPHA:254892
HP:0004673	Decreased facial expression	50484	RRM2B	ORPHA:254892
HP:0004673	Decreased facial expression	2512	FTL	OMIM:606159
HP:0004673	Decreased facial expression	2512	FTL	ORPHA:157846
HP:0004673	Decreased facial expression	8398	PLA2G6	ORPHA:199351
HP:0004673	Decreased facial expression	8398	PLA2G6	OMIM:612953
HP:0004673	Decreased facial expression	9895	TECPR2	ORPHA:320385
HP:0004673	Decreased facial expression	9895	TECPR2	OMIM:615031
HP:0004673	Decreased facial expression	6571	SLC18A2	OMIM:618049
HP:0004673	Decreased facial expression	6571	SLC18A2	ORPHA:352649
HP:0004673	Decreased facial expression	8506	CNTNAP1	OMIM:618186
HP:0004673	Decreased facial expression	23516	SLC39A14	OMIM:617013
HP:0004673	Decreased facial expression	23516	SLC39A14	ORPHA:521406
HP:0004673	Decreased facial expression	23259	DDHD2	OMIM:615033
HP:0004673	Decreased facial expression	55532	SLC30A10	ORPHA:309854
HP:0004673	Decreased facial expression	58494	JAM2	OMIM:618824
HP:0004673	Decreased facial expression	1213	CLTC	OMIM:617854
HP:0004673	Decreased facial expression	6531	SLC6A3	OMIM:613135
HP:0004673	Decreased facial expression	6531	SLC6A3	ORPHA:238455
HP:0004673	Decreased facial expression	23317	DNAJC13	ORPHA:411602
HP:0004673	Decreased facial expression	1981	EIF4G1	ORPHA:411602
HP:0004673	Decreased facial expression	55737	VPS35	ORPHA:411602
HP:0004673	Decreased facial expression	120892	LRRK2	ORPHA:411602
HP:0004673	Decreased facial expression	26058	GIGYF2	ORPHA:411602
HP:0004673	Decreased facial expression	6622	SNCA	ORPHA:411602
HP:0004673	Decreased facial expression	6622	SNCA	ORPHA:171695
HP:0004673	Decreased facial expression	6697	SPR	ORPHA:70594
HP:0004673	Decreased facial expression	478	ATP1A3	OMIM:128235
HP:0004673	Decreased facial expression	478	ATP1A3	ORPHA:71517
HP:0004673	Decreased facial expression	10907	TXNL4A	OMIM:608572
HP:0004673	Decreased facial expression	9829	DNAJC6	ORPHA:391411
HP:0004673	Decreased facial expression	9829	DNAJC6	OMIM:615528
HP:0004673	Decreased facial expression	5420	PODXL	ORPHA:391411
HP:0004673	Decreased facial expression	8867	SYNJ1	ORPHA:391411
HP:0004673	Decreased facial expression	10935	PRDX3	OMIM:619862
HP:0004673	Decreased facial expression	101929726	MYMX	OMIM:619941
HP:0004673	Decreased facial expression	25793	FBXO7	ORPHA:171695
HP:0004673	Decreased facial expression	25793	FBXO7	OMIM:260300
HP:0004673	Decreased facial expression	51305	KCNK9	ORPHA:166108
HP:0004673	Decreased facial expression	55753	OGDHL	OMIM:619701
HP:0004673	Decreased facial expression	9373	PLAA	OMIM:617527
HP:0004673	Decreased facial expression	54862	CC2D1A	OMIM:608443
HP:0004673	Decreased facial expression	6535	SLC6A8	OMIM:300352
HP:0004673	Decreased facial expression	253738	EBF3	OMIM:617330
HP:0004673	Decreased facial expression	23312	DMXL2	OMIM:618663
HP:0004673	Decreased facial expression	30000	TNPO2	OMIM:619556
HP:0004673	Decreased facial expression	4625	MYH7	ORPHA:437572
HP:0004673	Decreased facial expression	4625	MYH7	OMIM:255160
HP:0004673	Decreased facial expression	29925	GMPPB	OMIM:615351
HP:0004673	Decreased facial expression	79912	PYROXD1	OMIM:617258
HP:0004673	Decreased facial expression	8818	DPM2	ORPHA:329178
HP:0004673	Decreased facial expression	8818	DPM2	OMIM:615042
HP:0004673	Decreased facial expression	3211	HOXB1	OMIM:614744
HP:0004673	Decreased facial expression	4703	NEB	OMIM:256030
HP:0004673	Decreased facial expression	4703	NEB	ORPHA:171433
HP:0004673	Decreased facial expression	58	ACTA1	OMIM:161800
HP:0004673	Decreased facial expression	58	ACTA1	ORPHA:171433
HP:0004673	Decreased facial expression	58	ACTA1	ORPHA:2020
HP:0004673	Decreased facial expression	246329	STAC3	ORPHA:168572
HP:0004673	Decreased facial expression	246329	STAC3	OMIM:255995
HP:0004673	Decreased facial expression	5293	PIK3CD	ORPHA:221139
HP:0004673	Decreased facial expression	90417	KNSTRN	ORPHA:221139
HP:0004673	Decreased facial expression	10324	KLHL41	ORPHA:171433
HP:0004673	Decreased facial expression	7170	TPM3	ORPHA:171433
HP:0004673	Decreased facial expression	7170	TPM3	ORPHA:2020
HP:0004673	Decreased facial expression	6536	SLC6A9	OMIM:617301
HP:0004673	Decreased facial expression	63895	PIEZO2	OMIM:617146
HP:0004673	Decreased facial expression	84340	GFM2	OMIM:618397
HP:0004673	Decreased facial expression	84340	GFM2	ORPHA:565624
HP:0004673	Decreased facial expression	6901	TAFAZZIN	OMIM:302060
HP:0004673	Decreased facial expression	51244	CCDC174	OMIM:616816
HP:0004673	Decreased facial expression	3908	LAMA2	ORPHA:258
HP:0004673	Decreased facial expression	3756	KCNH1	ORPHA:420561
HP:0004673	Decreased facial expression	3756	KCNH1	OMIM:611816
HP:0004673	Decreased facial expression	84679	SLC9A7	OMIM:301024
HP:0004673	Decreased facial expression	51651	PTRH2	OMIM:616263
HP:0004673	Decreased facial expression	6843	VAMP1	OMIM:618323
HP:0004673	Decreased facial expression	55154	MSTO1	OMIM:617675
HP:0004673	Decreased facial expression	6261	RYR1	OMIM:255320
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:98905
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:324581
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:424107
HP:0004673	Decreased facial expression	6261	RYR1	OMIM:619542
HP:0004673	Decreased facial expression	7169	TPM2	OMIM:609285
HP:0004673	Decreased facial expression	7169	TPM2	ORPHA:2020
HP:0004673	Decreased facial expression	2733	GLE1	OMIM:611890
HP:0004673	Decreased facial expression	64919	BCL11B	OMIM:617237
HP:0004673	Decreased facial expression	64919	BCL11B	OMIM:618092
HP:0004673	Decreased facial expression	7317	UBA1	ORPHA:1145
HP:0004673	Decreased facial expression	7317	UBA1	OMIM:301830
HP:0004673	Decreased facial expression	55681	SCYL2	ORPHA:1143
HP:0004673	Decreased facial expression	84570	COL25A1	ORPHA:1143
HP:0004673	Decreased facial expression	57222	ERGIC1	ORPHA:1143
HP:0004673	Decreased facial expression	29967	LRP12	OMIM:164310
HP:0004673	Decreased facial expression	9570	GOSR2	OMIM:620166
HP:0004673	Decreased facial expression	57731	SPTBN4	OMIM:617519
HP:0004673	Decreased facial expression	4620	MYH2	OMIM:605637
HP:0004673	Decreased facial expression	6567	SLC16A2	ORPHA:59
HP:0004673	Decreased facial expression	10087	CERT1	OMIM:616351
HP:0004673	Decreased facial expression	57190	SELENON	ORPHA:2020
HP:0004673	Decreased facial expression	4633	MYL2	ORPHA:2020
HP:0004673	Decreased facial expression	3679	ITGA7	ORPHA:2020
HP:0004673	Decreased facial expression	9200	HACD1	ORPHA:2020
HP:0004673	Decreased facial expression	51776	MAP3K20	ORPHA:2020
HP:0004673	Decreased facial expression	27072	VPS41	OMIM:619389
HP:0004673	Decreased facial expression	5813	PURA	ORPHA:438216
HP:0004673	Decreased facial expression	5813	PURA	OMIM:616158
HP:0004673	Decreased facial expression	4632	MYL1	OMIM:618414
HP:0004673	Decreased facial expression	128989	TANGO2	OMIM:616878
HP:0004673	Decreased facial expression	6443	SGCB	ORPHA:119
HP:0004673	Decreased facial expression	113278	SLC52A3	OMIM:211530
HP:0004673	Decreased facial expression	10755	GIPC1	ORPHA:98897
HP:0004673	Decreased facial expression	100996717	NOTCH2NLC	ORPHA:98897
HP:0004673	Decreased facial expression	388015	RTL1	ORPHA:254531
HP:0004673	Decreased facial expression	8788	DLK1	ORPHA:254531
HP:0004673	Decreased facial expression	55384	MEG3	ORPHA:254531
HP:0004673	Decreased facial expression	1763	DNA2	ORPHA:352470
HP:0004673	Decreased facial expression	1763	DNA2	OMIM:615156
HP:0004673	Decreased facial expression	80816	ASXL3	ORPHA:352577
HP:0004673	Decreased facial expression	3119	HLA-DQB1	OMIM:123400
HP:0000341	Narrow forehead	8243	SMC1A	OMIM:300590
HP:0000341	Narrow forehead	8243	SMC1A	OMIM:301044
HP:0000341	Narrow forehead	8036	SHOC2	OMIM:607721
HP:0000341	Narrow forehead	6309	SC5D	ORPHA:46059
HP:0000341	Narrow forehead	6309	SC5D	OMIM:607330
HP:0000341	Narrow forehead	340533	NEXMIF	OMIM:300912
HP:0000341	Narrow forehead	51399	TRAPPC4	OMIM:618741
HP:0000341	Narrow forehead	8294	H4C9	OMIM:619951
HP:0000341	Narrow forehead	8216	LZTR1	OMIM:616564
HP:0000341	Narrow forehead	51126	NAA20	OMIM:619717
HP:0000341	Narrow forehead	673	BRAF	OMIM:115150
HP:0000341	Narrow forehead	673	BRAF	OMIM:613707
HP:0000341	Narrow forehead	673	BRAF	OMIM:613706
HP:0000341	Narrow forehead	55627	SMPD4	OMIM:618622
HP:0000341	Narrow forehead	57539	WDR35	OMIM:613610
HP:0000341	Narrow forehead	7360	UGP2	OMIM:618744
HP:0000341	Narrow forehead	4897	NRCAM	OMIM:619833
HP:0000341	Narrow forehead	781	CACNA2D1	OMIM:620149
HP:0000341	Narrow forehead	5932	RBBP8	OMIM:606744
HP:0000341	Narrow forehead	3020	H3-3A	OMIM:619720
HP:0000341	Narrow forehead	51741	WWOX	OMIM:616211
HP:0000341	Narrow forehead	1841	DTYMK	OMIM:619847
HP:0000341	Narrow forehead	84520	GON7	OMIM:619603
HP:0000341	Narrow forehead	23431	AP4E1	OMIM:613744
HP:0000341	Narrow forehead	23431	AP4E1	ORPHA:280763
HP:0000341	Narrow forehead	10978	CLP1	OMIM:615803
HP:0000341	Narrow forehead	79158	GNPTAB	OMIM:252500
HP:0000341	Narrow forehead	26153	KIF26A	OMIM:620156
HP:0000341	Narrow forehead	271	AMPD2	OMIM:615809
HP:0000341	Narrow forehead	4001	LMNB1	OMIM:619179
HP:0000341	Narrow forehead	3190	HNRNPK	OMIM:616580
HP:0000341	Narrow forehead	818	CAMK2G	OMIM:618522
HP:0000341	Narrow forehead	79029	AFG2B	OMIM:619616
HP:0000341	Narrow forehead	816	CAMK2B	OMIM:617799
HP:0000341	Narrow forehead	7994	KAT6A	ORPHA:457193
HP:0000341	Narrow forehead	7994	KAT6A	OMIM:616268
HP:0000341	Narrow forehead	93627	TBCK	OMIM:616900
HP:0000341	Narrow forehead	1717	DHCR7	OMIM:270400
HP:0000341	Narrow forehead	4763	NF1	ORPHA:363700
HP:0000341	Narrow forehead	4330	MN1	OMIM:618774
HP:0000341	Narrow forehead	1656	DDX6	OMIM:618653
HP:0000341	Narrow forehead	4212	MEIS2	OMIM:600987
HP:0000341	Narrow forehead	4212	MEIS2	ORPHA:261190
HP:0000341	Narrow forehead	5528	PPP2R5D	OMIM:616355
HP:0000341	Narrow forehead	833	CARS1	OMIM:618891
HP:0000341	Narrow forehead	8550	MAPKAPK5	OMIM:619869
HP:0000341	Narrow forehead	55012	PPP2R3C	OMIM:618419
HP:0000341	Narrow forehead	2783	GNB2	OMIM:619503
HP:0000341	Narrow forehead	200734	SPRED2	OMIM:619745
HP:0000341	Narrow forehead	6602	SMARCD1	OMIM:618779
HP:0000341	Narrow forehead	8642	DCHS1	OMIM:601390
HP:0000341	Narrow forehead	54084	TSPEAR	OMIM:620173
HP:0000341	Narrow forehead	9653	HS2ST1	OMIM:619194
HP:0000341	Narrow forehead	10717	AP4B1	OMIM:614066
HP:0000341	Narrow forehead	10717	AP4B1	ORPHA:280763
HP:0000341	Narrow forehead	51604	PIGT	OMIM:615398
HP:0000341	Narrow forehead	51604	PIGT	ORPHA:369837
HP:0000341	Narrow forehead	56006	SMG9	OMIM:616920
HP:0000341	Narrow forehead	8239	USP9X	ORPHA:480880
HP:0000341	Narrow forehead	8239	USP9X	OMIM:300968
HP:0000341	Narrow forehead	54499	TMCO1	OMIM:213980
HP:0000341	Narrow forehead	1859	DYRK1A	ORPHA:464311
HP:0000341	Narrow forehead	1859	DYRK1A	OMIM:614104
HP:0000341	Narrow forehead	84992	PIGY	OMIM:616809
HP:0000341	Narrow forehead	51611	DPH5	OMIM:620070
HP:0000341	Narrow forehead	5605	MAP2K2	OMIM:615280
HP:0000341	Narrow forehead	6558	SLC12A2	OMIM:619080
HP:0000341	Narrow forehead	8733	GPAA1	ORPHA:529665
HP:0000341	Narrow forehead	8733	GPAA1	OMIM:617810
HP:0000341	Narrow forehead	5594	MAPK1	OMIM:619087
HP:0000341	Narrow forehead	163175	LGI4	OMIM:617468
HP:0000341	Narrow forehead	6925	TCF4	OMIM:610954
HP:0000341	Narrow forehead	6925	TCF4	ORPHA:2896
HP:0000341	Narrow forehead	51085	MLXIPL	OMIM:194050
HP:0000341	Narrow forehead	2006	ELN	OMIM:194050
HP:0000341	Narrow forehead	55691	FRMD4A	OMIM:616819
HP:0000341	Narrow forehead	55691	FRMD4A	ORPHA:466688
HP:0000341	Narrow forehead	57724	EPG5	OMIM:242840
HP:0000341	Narrow forehead	23556	PIGN	OMIM:614080
HP:0000341	Narrow forehead	546	ATRX	OMIM:309580
HP:0000341	Narrow forehead	55275	VPS53	OMIM:615851
HP:0000341	Narrow forehead	6261	RYR1	ORPHA:324581
HP:0000341	Narrow forehead	3954	LETM1	OMIM:620089
HP:0000341	Narrow forehead	85440	DOCK7	OMIM:615859
HP:0000341	Narrow forehead	85440	DOCK7	ORPHA:411986
HP:0000341	Narrow forehead	92154	MTSS2	OMIM:620086
HP:0000341	Narrow forehead	7546	ZIC2	OMIM:609637
HP:0000341	Narrow forehead	171023	ASXL1	OMIM:605039
HP:0000341	Narrow forehead	10159	ATP6AP2	OMIM:300423
HP:0000341	Narrow forehead	9742	IFT140	OMIM:266920
HP:0000341	Narrow forehead	8260	NAA10	ORPHA:276432
HP:0000341	Narrow forehead	5813	PURA	ORPHA:314655
HP:0000341	Narrow forehead	9488	PIGB	OMIM:618580
HP:0000341	Narrow forehead	84706	GPT2	OMIM:616281
HP:0000341	Narrow forehead	84706	GPT2	ORPHA:477673
HP:0000341	Narrow forehead	91949	COG7	OMIM:608779
HP:0000341	Narrow forehead	23013	SPEN	OMIM:619312
HP:0000341	Narrow forehead	30000	TNPO2	OMIM:619556
HP:0000341	Narrow forehead	9698	PUM1	OMIM:617931
HP:0000341	Narrow forehead	57122	NUP107	OMIM:618348
HP:0000341	Narrow forehead	57122	NUP107	OMIM:616730
HP:0000341	Narrow forehead	55746	NUP133	OMIM:618349
HP:0000341	Narrow forehead	53616	ADAM22	OMIM:617933
HP:0000341	Narrow forehead	7681	MKRN3	OMIM:176270
HP:0000341	Narrow forehead	3653	IPW	OMIM:176270
HP:0000341	Narrow forehead	54551	MAGEL2	OMIM:176270
HP:0000341	Narrow forehead	54551	MAGEL2	OMIM:615547
HP:0000341	Narrow forehead	791114	PWRN1	OMIM:176270
HP:0000341	Narrow forehead	100033413	SNORD116-1	OMIM:176270
HP:0000341	Narrow forehead	8924	HERC2	OMIM:176270
HP:0000341	Narrow forehead	145624	PWAR1	OMIM:176270
HP:0000341	Narrow forehead	23742	NPAP1	OMIM:176270
HP:0000341	Narrow forehead	338433	SNORD115-1	OMIM:176270
HP:0000341	Narrow forehead	3981	LIG4	OMIM:606593
HP:0000341	Narrow forehead	128869	PIGU	OMIM:618590
HP:0000341	Narrow forehead	27125	AFF4	ORPHA:444077
HP:0000341	Narrow forehead	5575	PRKAR1B	OMIM:619680
HP:0000341	Narrow forehead	7707	ZNF148	OMIM:617260
HP:0000341	Narrow forehead	57465	TBC1D24	OMIM:220500
HP:0000341	Narrow forehead	6567	SLC16A2	OMIM:300523
HP:0000341	Narrow forehead	29998	BICRA	OMIM:619325
HP:0000341	Narrow forehead	6651	SON	OMIM:617140
HP:0000341	Narrow forehead	6651	SON	ORPHA:500150
HP:0000341	Narrow forehead	388015	RTL1	ORPHA:254528
HP:0000341	Narrow forehead	8788	DLK1	ORPHA:254528
HP:0000341	Narrow forehead	55384	MEG3	ORPHA:254528
HP:0000341	Narrow forehead	5649	RELN	ORPHA:89844
HP:0000341	Narrow forehead	10300	KATNB1	ORPHA:89844
HP:0000341	Narrow forehead	54820	NDE1	ORPHA:89844
HP:0000341	Narrow forehead	5859	QARS1	OMIM:615760
HP:0000341	Narrow forehead	23030	KDM4B	OMIM:619320
HP:0000341	Narrow forehead	6492	SIM1	ORPHA:171829
HP:0000341	Narrow forehead	998	CDC42	OMIM:616737
HP:0000341	Narrow forehead	998	CDC42	ORPHA:487796
HP:0000341	Narrow forehead	9179	AP4M1	OMIM:612936
HP:0000341	Narrow forehead	9179	AP4M1	ORPHA:280763
HP:0000341	Narrow forehead	90161	HS6ST2	OMIM:301025
HP:0000341	Narrow forehead	22930	RAB3GAP1	OMIM:600118
HP:0000341	Narrow forehead	2530	FUT8	OMIM:618005
HP:0000341	Narrow forehead	23511	NUP188	OMIM:618804
HP:0000341	Narrow forehead	91137	SLC25A46	OMIM:616505
HP:0000341	Narrow forehead	29920	PYCR2	ORPHA:481152
HP:0000341	Narrow forehead	29920	PYCR2	OMIM:616420
HP:0000341	Narrow forehead	51608	GET4	OMIM:620200
HP:0000341	Narrow forehead	23389	MED13L	ORPHA:369891
HP:0000341	Narrow forehead	23389	MED13L	OMIM:616789
HP:0000341	Narrow forehead	1009	CDH11	OMIM:211380
HP:0000341	Narrow forehead	6821	SUOX	OMIM:272300
HP:0000341	Narrow forehead	22827	PUF60	ORPHA:508488
HP:0000341	Narrow forehead	22827	PUF60	OMIM:615583
HP:0000341	Narrow forehead	6792	CDKL5	ORPHA:505652
HP:0000341	Narrow forehead	11342	RNF13	OMIM:618379
HP:0000341	Narrow forehead	11342	RNF13	ORPHA:544503
HP:0000341	Narrow forehead	1822	ATN1	OMIM:618494
HP:0000341	Narrow forehead	25	ABL1	OMIM:617602
HP:0000341	Narrow forehead	51305	KCNK9	ORPHA:166108
HP:0000341	Narrow forehead	51305	KCNK9	OMIM:612292
HP:0000341	Narrow forehead	83696	TRAPPC9	ORPHA:352530
HP:0000341	Narrow forehead	79633	FAT4	OMIM:615546
HP:0000341	Narrow forehead	5723	PSPH	ORPHA:79350
HP:0000341	Narrow forehead	6638	SNRPN	ORPHA:177907
HP:0000341	Narrow forehead	55644	OSGEP	OMIM:617729
HP:0000341	Narrow forehead	26040	SETBP1	ORPHA:798
HP:0000341	Narrow forehead	50801	KCNK4	OMIM:618381
HP:0000341	Narrow forehead	10664	CTCF	ORPHA:363611
HP:0000341	Narrow forehead	57003	CCDC47	OMIM:618268
HP:0000341	Narrow forehead	8270	LAGE3	OMIM:301006
HP:0000341	Narrow forehead	348180	CTU2	OMIM:618142
HP:0000341	Narrow forehead	6711	SPTBN1	OMIM:619475
HP:0000341	Narrow forehead	8405	SPOP	OMIM:618828
HP:0000341	Narrow forehead	80781	COL18A1	OMIM:267750
HP:0000341	Narrow forehead	8567	MADD	OMIM:619004
HP:0000341	Narrow forehead	51124	IER3IP1	OMIM:614231
HP:0000341	Narrow forehead	9326	ZNHIT3	OMIM:260565
HP:0000341	Narrow forehead	55704	CCDC88A	OMIM:617507
HP:0000341	Narrow forehead	5500	PPP1CB	OMIM:617506
HP:0000341	Narrow forehead	57038	RARS2	OMIM:611523
HP:0000341	Narrow forehead	54676	GTPBP2	OMIM:617988
HP:0000341	Narrow forehead	118924	FRA10AC1	OMIM:620113
HP:0000341	Narrow forehead	93587	TRMT10A	ORPHA:391408
HP:0000341	Narrow forehead	84919	PPP1R15B	ORPHA:391408
HP:0000341	Narrow forehead	1759	DNM1	OMIM:620352
HP:0000341	Narrow forehead	139285	AMER1	OMIM:300373
HP:0000341	Narrow forehead	259266	ASPM	OMIM:608716
HP:0000341	Narrow forehead	11154	AP4S1	ORPHA:280763
HP:0000341	Narrow forehead	6904	TBCD	OMIM:617193
HP:0000341	Narrow forehead	650	BMP2	OMIM:617877
HP:0000341	Narrow forehead	1663	DDX11	OMIM:613398
HP:0000341	Narrow forehead	51594	NBAS	OMIM:614800
HP:0000341	Narrow forehead	84700	MYO18B	OMIM:616549
HP:0000341	Narrow forehead	2801	GOLGA2	OMIM:620240
HP:0000341	Narrow forehead	129285	PPP1R21	OMIM:619383
HP:0000341	Narrow forehead	55553	SOX6	OMIM:618971
HP:0000341	Narrow forehead	10844	TUBGCP2	OMIM:618737
HP:0000341	Narrow forehead	4654	MYOD1	OMIM:618975
HP:0000341	Narrow forehead	871	SERPINH1	OMIM:613848
HP:0000341	Narrow forehead	9990	SLC12A6	OMIM:218000
HP:0004676	Prominent supraorbital arches in adult	5745	PTH1R	OMIM:156400
HP:0010101	Partial duplication of the phalanges of the hallux	124583	CANT1	OMIM:251450
HP:0004679	Large tarsal bones	1302	COL11A2	OMIM:215150
HP:0030521	Bitemporal hemianopia	64072	CDH23	ORPHA:91347
HP:0030521	Bitemporal hemianopia	64072	CDH23	ORPHA:2965
HP:0030521	Bitemporal hemianopia	4221	MEN1	ORPHA:2965
HP:0030521	Bitemporal hemianopia	9049	AIP	ORPHA:2965
HP:0030521	Bitemporal hemianopia	8314	BAP1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	4771	NF2	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6598	SMARCB1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	5155	PDGFB	ORPHA:2495
HP:0030521	Bitemporal hemianopia	84231	TRAF7	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6608	SMO	ORPHA:2495
HP:0030521	Bitemporal hemianopia	207	AKT1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	5290	PIK3CA	ORPHA:2495
HP:0030521	Bitemporal hemianopia	7015	TERT	ORPHA:2495
HP:0030521	Bitemporal hemianopia	51684	SUFU	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6605	SMARCE1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	1499	CTNNB1	ORPHA:54595
HP:0030521	Bitemporal hemianopia	673	BRAF	ORPHA:54595
HP:0030529	Ring scotoma	138050	HGSNAT	OMIM:616544
HP:0030529	Ring scotoma	6103	RPGR	OMIM:300029
HP:0030529	Ring scotoma	6017	RLBP1	ORPHA:85128
HP:0030529	Ring scotoma	51095	TRNT1	OMIM:616959
HP:0030529	Ring scotoma	6102	RP2	OMIM:312600
HP:0030529	Ring scotoma	28982	FLVCR1	OMIM:609033
HP:0030529	Ring scotoma	22901	ARSG	OMIM:618144
HP:0030528	Paracentral scotoma	2202	EFEMP1	ORPHA:75376
HP:0030528	Paracentral scotoma	3075	CFH	ORPHA:75376
HP:0030528	Paracentral scotoma	3426	CFI	ORPHA:75376
HP:0030528	Paracentral scotoma	285440	CYP4V2	ORPHA:41751
HP:0030528	Paracentral scotoma	285440	CYP4V2	OMIM:210370
HP:0030528	Paracentral scotoma	80201	HKDC1	OMIM:619614
HP:0030528	Paracentral scotoma	6017	RLBP1	ORPHA:85128
HP:0030528	Paracentral scotoma	50	ACO2	OMIM:616289
HP:0030530	Arcuate scotoma	3105	HLA-A	ORPHA:179
HP:0010105	Short first metatarsal	2033	EP300	OMIM:613684
HP:0010105	Short first metatarsal	2260	FGFR1	OMIM:123150
HP:0010105	Short first metatarsal	2263	FGFR2	OMIM:123150
HP:0010105	Short first metatarsal	3209	HOXA13	OMIM:140000
HP:0010105	Short first metatarsal	3209	HOXA13	ORPHA:2438
HP:0010105	Short first metatarsal	57020	VPS35L	OMIM:619135
HP:0004681	Deep longitudinal plantar crease	2074	ERCC6	OMIM:214150
HP:0004681	Deep longitudinal plantar crease	23556	PIGN	ORPHA:280633
HP:0004684	Talipes valgus	2131	EXT1	ORPHA:321
HP:0004684	Talipes valgus	2132	EXT2	ORPHA:321
HP:0004684	Talipes valgus	5119	CHMP1A	OMIM:614961
HP:0004684	Talipes valgus	3187	HNRNPH1	OMIM:620083
HP:0004684	Talipes valgus	4125	MAN2B1	ORPHA:309282
HP:0004684	Talipes valgus	4841	NONO	ORPHA:466791
HP:0004684	Talipes valgus	1788	DNMT3A	OMIM:615879
HP:0004684	Talipes valgus	25782	RAB3GAP2	OMIM:212720
HP:0004684	Talipes valgus	3977	LIFR	OMIM:601559
HP:0004684	Talipes valgus	6335	SCN9A	ORPHA:36387
HP:0004684	Talipes valgus	112755	STX1B	ORPHA:36387
HP:0004684	Talipes valgus	2563	GABRD	ORPHA:36387
HP:0004684	Talipes valgus	6326	SCN2A	ORPHA:36387
HP:0004684	Talipes valgus	6323	SCN1A	ORPHA:36387
HP:0004684	Talipes valgus	6324	SCN1B	ORPHA:36387
HP:0004684	Talipes valgus	348980	HCN1	ORPHA:36387
HP:0004684	Talipes valgus	84059	ADGRV1	ORPHA:36387
HP:0004684	Talipes valgus	2566	GABRG2	ORPHA:36387
HP:0004684	Talipes valgus	833	CARS1	OMIM:618891
HP:0004686	Short third metatarsal	3094	HINT1	ORPHA:324442
HP:0004688	Irregular tarsal bones	2879	GPX4	OMIM:250220
HP:0004689	Short fourth metatarsal	9759	HDAC4	OMIM:600430
HP:0004689	Short fourth metatarsal	9578	CDC42BPB	OMIM:619841
HP:0004689	Short fourth metatarsal	5191	PEX7	OMIM:266500
HP:0004689	Short fourth metatarsal	5264	PHYH	OMIM:266500
HP:0004689	Short fourth metatarsal	94005	PIGS	OMIM:618143
HP:0004689	Short fourth metatarsal	341208	HEPHL1	OMIM:261990
HP:0004689	Short fourth metatarsal	89970	RSPRY1	ORPHA:457395
HP:0004689	Short fourth metatarsal	89970	RSPRY1	OMIM:616723
HP:0004689	Short fourth metatarsal	54585	LZTFL1	OMIM:615994
HP:0004689	Short fourth metatarsal	55628	ZNF407	OMIM:619557
HP:0004689	Short fourth metatarsal	2146	EZH2	OMIM:277590
HP:0004689	Short fourth metatarsal	79633	FAT4	OMIM:615546
HP:0004689	Short fourth metatarsal	8642	DCHS1	OMIM:601390
HP:0004689	Short fourth metatarsal	54496	PRMT7	ORPHA:464288
HP:0004689	Short fourth metatarsal	6925	TCF4	OMIM:610954
HP:0030534	Abnormal best corrected visual acuity test	10381	TUBB3	ORPHA:300570
HP:0030534	Abnormal best corrected visual acuity test	5080	PAX6	ORPHA:137902
HP:0030534	Abnormal best corrected visual acuity test	114902	C1QTNF5	ORPHA:67042
HP:0010100	Complete duplication of hallux phalanx	4750	NEK1	ORPHA:2751
HP:0010102	Aplasia of the distal phalanx of the hallux	9896	FIG4	ORPHA:3472
HP:0010102	Aplasia of the distal phalanx of the hallux	55697	VAC14	ORPHA:3472
HP:0030532	Visual acuity test abnormality	8314	BAP1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	4771	NF2	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6598	SMARCB1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5155	PDGFB	ORPHA:2495
HP:0030532	Visual acuity test abnormality	84231	TRAF7	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6608	SMO	ORPHA:2495
HP:0030532	Visual acuity test abnormality	207	AKT1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5290	PIK3CA	ORPHA:2495
HP:0030532	Visual acuity test abnormality	7015	TERT	ORPHA:2495
HP:0030532	Visual acuity test abnormality	51684	SUFU	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6605	SMARCE1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5456	POU3F4	ORPHA:1435
HP:0030532	Visual acuity test abnormality	10381	TUBB3	ORPHA:300570
HP:0030532	Visual acuity test abnormality	5080	PAX6	ORPHA:137902
HP:0030532	Visual acuity test abnormality	114902	C1QTNF5	ORPHA:67042
HP:0030532	Visual acuity test abnormality	4041	LRP5	ORPHA:2788
HP:0030532	Visual acuity test abnormality	324	APC	ORPHA:99818
HP:0030532	Visual acuity test abnormality	9785	DHX38	OMIM:618220
HP:0004690	Thickened Achilles tendon	3081	HGD	ORPHA:56
HP:0004690	Thickened Achilles tendon	3081	HGD	OMIM:203500
HP:0004690	Thickened Achilles tendon	3265	HRAS	ORPHA:3071
HP:0004690	Thickened Achilles tendon	3848	KRT1	ORPHA:530838
HP:0004695	Calcaneal epiphyseal stippling	6628	SNRPB	OMIM:117650
HP:0004695	Calcaneal epiphyseal stippling	415	ARSL	ORPHA:79345
HP:0004696	Talipes cavus equinovarus	10397	NDRG1	OMIM:601455
HP:0004696	Talipes cavus equinovarus	6872	TAF1	OMIM:300966
HP:0004696	Talipes cavus equinovarus	4625	MYH7	ORPHA:59135
HP:0004696	Talipes cavus equinovarus	56997	COQ8A	ORPHA:139485
HP:0010110	Aplasia of the phalanges of the hallux	9896	FIG4	ORPHA:3472
HP:0010110	Aplasia of the phalanges of the hallux	55697	VAC14	ORPHA:3472
HP:0010111	Short phalanx of hallux	3549	IHH	OMIM:112500
HP:0010111	Short phalanx of hallux	9896	FIG4	ORPHA:3472
HP:0010111	Short phalanx of hallux	55697	VAC14	ORPHA:3472
HP:0010112	Mesoaxial foot polydactyly	2702	GJA5	OMIM:612474
HP:0010112	Mesoaxial foot polydactyly	2703	GJA8	OMIM:612474
HP:0010112	Mesoaxial foot polydactyly	7021	TFAP2B	ORPHA:46627
HP:0010112	Mesoaxial foot polydactyly	51776	MAP3K20	ORPHA:488232
HP:0010112	Mesoaxial foot polydactyly	2737	GLI3	OMIM:146510
HP:0030551	Visual acuity light perception with projection	4041	LRP5	ORPHA:2788
HP:0030553	Visual acuity no light perception	324	APC	ORPHA:99818
HP:0030553	Visual acuity no light perception	9785	DHX38	OMIM:618220
HP:0030584	Color vision test abnormality	22926	ATF6	ORPHA:49382
HP:0030584	Color vision test abnormality	5146	PDE6C	ORPHA:49382
HP:0030584	Color vision test abnormality	6103	RPGR	ORPHA:49382
HP:0030584	Color vision test abnormality	5149	PDE6H	ORPHA:49382
HP:0030584	Color vision test abnormality	2780	GNAT2	ORPHA:49382
HP:0030584	Color vision test abnormality	1261	CNGA3	ORPHA:49382
HP:0030584	Color vision test abnormality	54714	CNGB3	ORPHA:49382
HP:0030584	Color vision test abnormality	611	OPN1SW	ORPHA:88629
HP:0030584	Color vision test abnormality	79152	FA2H	ORPHA:329308
HP:0030584	Color vision test abnormality	10939	AFG3L2	OMIM:618977
HP:0030586	Abnormal Ishihara plate test	10939	AFG3L2	OMIM:618977
HP:0030588	Abnormal visual field test	64072	CDH23	ORPHA:91347
HP:0030588	Abnormal visual field test	4508	MT-ATP6	ORPHA:644
HP:0030588	Abnormal visual field test	1499	CTNNB1	ORPHA:54595
HP:0030588	Abnormal visual field test	673	BRAF	ORPHA:54595
HP:0030588	Abnormal visual field test	8314	BAP1	ORPHA:2495
HP:0030588	Abnormal visual field test	4771	NF2	ORPHA:2495
HP:0030588	Abnormal visual field test	6598	SMARCB1	ORPHA:2495
HP:0030588	Abnormal visual field test	5155	PDGFB	ORPHA:2495
HP:0030588	Abnormal visual field test	84231	TRAF7	ORPHA:2495
HP:0030588	Abnormal visual field test	6608	SMO	ORPHA:2495
HP:0030588	Abnormal visual field test	207	AKT1	ORPHA:2495
HP:0030588	Abnormal visual field test	5290	PIK3CA	ORPHA:2495
HP:0030588	Abnormal visual field test	7015	TERT	ORPHA:2495
HP:0030588	Abnormal visual field test	51684	SUFU	ORPHA:2495
HP:0030588	Abnormal visual field test	6605	SMARCE1	ORPHA:2495
HP:0007100	Progressive ventriculomegaly	6651	SON	ORPHA:500150
HP:0007104	Prolonged somatosensory evoked potentials	57465	TBC1D24	OMIM:608105
HP:0007104	Prolonged somatosensory evoked potentials	57465	TBC1D24	ORPHA:163727
HP:0007107	Segmental peripheral demyelination	79628	SH3TC2	OMIM:601596
HP:0007107	Segmental peripheral demyelination	54332	GDAP1	OMIM:214400
HP:0007107	Segmental peripheral demyelination	1785	DNM2	OMIM:606482
HP:0007107	Segmental peripheral demyelination	8729	GBF1	OMIM:606483
HP:0007108	Demyelinating peripheral neuropathy	5428	POLG	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	1890	TYMP	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	3980	LIG3	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	50484	RRM2B	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	5981	RFC1	ORPHA:504476
HP:0007108	Demyelinating peripheral neuropathy	51651	PTRH2	OMIM:616263
HP:0007108	Demyelinating peripheral neuropathy	23312	DMXL2	ORPHA:453533
HP:0007108	Demyelinating peripheral neuropathy	1161	ERCC8	ORPHA:90324
HP:0007108	Demyelinating peripheral neuropathy	2074	ERCC6	ORPHA:90324
HP:0007108	Demyelinating peripheral neuropathy	4897	NRCAM	OMIM:619833
HP:0007108	Demyelinating peripheral neuropathy	8560	DEGS1	OMIM:618404
HP:0007108	Demyelinating peripheral neuropathy	7841	MOGS	OMIM:606056
HP:0007108	Demyelinating peripheral neuropathy	57731	SPTBN4	OMIM:617519
HP:0007108	Demyelinating peripheral neuropathy	10939	AFG3L2	ORPHA:313772
HP:0007108	Demyelinating peripheral neuropathy	3098	HK1	ORPHA:99953
HP:0007108	Demyelinating peripheral neuropathy	10397	NDRG1	ORPHA:99950
HP:0007108	Demyelinating peripheral neuropathy	4535	MT-ND1	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4536	MT-ND2	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4537	MT-ND3	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4538	MT-ND4	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4567	MT-TL1	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4578	MT-TW	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4577	MT-TV	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4508	MT-ATP6	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4540	MT-ND5	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4541	MT-ND6	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4566	MT-TK	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	5354	PLP1	ORPHA:280234
HP:0007108	Demyelinating peripheral neuropathy	26278	SACS	ORPHA:98
HP:0007108	Demyelinating peripheral neuropathy	5611	DNAJC3	ORPHA:445062
HP:0007108	Demyelinating peripheral neuropathy	55703	POLR3B	OMIM:619742
HP:0007108	Demyelinating peripheral neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0007108	Demyelinating peripheral neuropathy	4126	MANBA	OMIM:248510
HP:0007108	Demyelinating peripheral neuropathy	26090	ABHD12	OMIM:612674
HP:0007108	Demyelinating peripheral neuropathy	54332	GDAP1	ORPHA:99948
HP:0007108	Demyelinating peripheral neuropathy	2068	ERCC2	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2073	ERCC5	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2072	ERCC4	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2071	ERCC3	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	50	ACO2	OMIM:614559
HP:0007108	Demyelinating peripheral neuropathy	79628	SH3TC2	ORPHA:99949
HP:0007108	Demyelinating peripheral neuropathy	3035	HARS1	ORPHA:488333
HP:0007108	Demyelinating peripheral neuropathy	9531	BAG3	OMIM:612954
HP:0007108	Demyelinating peripheral neuropathy	7443	VRK1	OMIM:607596
HP:0007108	Demyelinating peripheral neuropathy	6663	SOX10	OMIM:609136
HP:0007108	Demyelinating peripheral neuropathy	10535	RNASEH2A	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	84153	RNASEH2C	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	25939	SAMHD1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	79621	RNASEH2B	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	103	ADAR	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	11277	TREX1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	100147744	RNU7-1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	134353	LSM11	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	64135	IFIH1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	165918	RNF168	ORPHA:420741
HP:0007108	Demyelinating peripheral neuropathy	9990	SLC12A6	OMIM:218000
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	OMIM:139393
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	ORPHA:98916
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	ORPHA:3115
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	ORPHA:101081
HP:0007108	Demyelinating peripheral neuropathy	4359	MPZ	ORPHA:3115
HP:0007108	Demyelinating peripheral neuropathy	246243	RNASEH1	OMIM:616479
HP:0007108	Demyelinating peripheral neuropathy	85465	SELENOI	ORPHA:506353
HP:0007108	Demyelinating peripheral neuropathy	57165	GJC2	OMIM:608804
HP:0007108	Demyelinating peripheral neuropathy	10342	TFG	OMIM:615658
HP:0007108	Demyelinating peripheral neuropathy	4747	NEFL	ORPHA:99939
HP:0007108	Demyelinating peripheral neuropathy	4747	NEFL	ORPHA:101085
HP:0007108	Demyelinating peripheral neuropathy	65260	COA7	OMIM:618387
HP:0007109	Periventricular cysts	387787	LIPT2	OMIM:617668
HP:0007109	Periventricular cysts	4953	ODC1	OMIM:619075
HP:0007109	Periventricular cysts	4953	ODC1	ORPHA:544488
HP:0007109	Periventricular cysts	5162	PDHB	ORPHA:255138
HP:0007109	Periventricular cysts	53834	FGFRL1	OMIM:194190
HP:0007109	Periventricular cysts	1487	CTBP1	OMIM:194190
HP:0007109	Periventricular cysts	3954	LETM1	OMIM:194190
HP:0007109	Periventricular cysts	7468	NSD2	OMIM:194190
HP:0007109	Periventricular cysts	10815	CPLX1	OMIM:194190
HP:0007109	Periventricular cysts	2670	GFAP	ORPHA:363722
HP:0007109	Periventricular cysts	4952	OCRL	OMIM:309000
HP:0007109	Periventricular cysts	8050	PDHX	ORPHA:255182
HP:0007109	Periventricular cysts	790955	UQCC3	OMIM:616111
HP:0007109	Periventricular cysts	2193	FARSA	OMIM:619013
HP:0030591	Abnormal kinetic perimetry test	8314	BAP1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	4771	NF2	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6598	SMARCB1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	5155	PDGFB	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	84231	TRAF7	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6608	SMO	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	207	AKT1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	5290	PIK3CA	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	7015	TERT	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	51684	SUFU	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6605	SMARCE1	ORPHA:2495
HP:0010160	Abnormal toe epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0010160	Abnormal toe epiphysis morphology	415	ARSL	ORPHA:79345
HP:0010160	Abnormal toe epiphysis morphology	23102	TBC1D2B	ORPHA:397973
HP:0010161	Abnormal toe phalanx morphology	1281	COL3A1	OMIM:130050
HP:0010161	Abnormal toe phalanx morphology	6335	SCN9A	ORPHA:970
HP:0010161	Abnormal toe phalanx morphology	6335	SCN9A	OMIM:201300
HP:0010161	Abnormal toe phalanx morphology	65125	WNK1	ORPHA:970
HP:0010161	Abnormal toe phalanx morphology	65125	WNK1	OMIM:201300
HP:0010161	Abnormal toe phalanx morphology	54463	RETREG1	ORPHA:970
HP:0010161	Abnormal toe phalanx morphology	54463	RETREG1	OMIM:201300
HP:0010161	Abnormal toe phalanx morphology	547	KIF1A	ORPHA:970
HP:0010161	Abnormal toe phalanx morphology	547	KIF1A	OMIM:201300
HP:0010161	Abnormal toe phalanx morphology	4853	NOTCH2	OMIM:102500
HP:0010161	Abnormal toe phalanx morphology	59341	TRPV4	OMIM:606835
HP:0010161	Abnormal toe phalanx morphology	5281	PIGF	OMIM:619356
HP:0010161	Abnormal toe phalanx morphology	9241	NOG	ORPHA:140908
HP:0010161	Abnormal toe phalanx morphology	415	ARSL	ORPHA:79345
HP:0010161	Abnormal toe phalanx morphology	3756	KCNH1	OMIM:135500
HP:0010161	Abnormal toe phalanx morphology	10269	ZMPSTE24	OMIM:608612
HP:0010161	Abnormal toe phalanx morphology	10269	ZMPSTE24	ORPHA:90154
HP:0010161	Abnormal toe phalanx morphology	10651	MTX2	ORPHA:90153
HP:0010161	Abnormal toe phalanx morphology	2260	FGFR1	OMIM:101600
HP:0010161	Abnormal toe phalanx morphology	2263	FGFR2	OMIM:101600
HP:0010161	Abnormal toe phalanx morphology	2261	FGFR3	OMIM:602849
HP:0010161	Abnormal toe phalanx morphology	6662	SOX9	OMIM:114290
HP:0010161	Abnormal toe phalanx morphology	9896	FIG4	ORPHA:3472
HP:0010161	Abnormal toe phalanx morphology	55697	VAC14	ORPHA:3472
HP:0010161	Abnormal toe phalanx morphology	90	ACVR1	ORPHA:337
HP:0010161	Abnormal toe phalanx morphology	10664	CTCF	ORPHA:363611
HP:0010161	Abnormal toe phalanx morphology	1387	CREBBP	OMIM:180849
HP:0010161	Abnormal toe phalanx morphology	2033	EP300	OMIM:180849
HP:0010161	Abnormal toe phalanx morphology	2737	GLI3	OMIM:175700
HP:0010161	Abnormal toe phalanx morphology	2737	GLI3	ORPHA:380
HP:0010161	Abnormal toe phalanx morphology	1947	EFNB1	ORPHA:1520
HP:0010161	Abnormal toe phalanx morphology	64359	NXN	ORPHA:1507
HP:0010161	Abnormal toe phalanx morphology	4920	ROR2	ORPHA:1507
HP:0010161	Abnormal toe phalanx morphology	2626	GATA4	ORPHA:251071
HP:0010161	Abnormal toe phalanx morphology	285362	SUMF1	ORPHA:585
HP:0010161	Abnormal toe phalanx morphology	650	BMP2	ORPHA:261295
HP:0010161	Abnormal toe phalanx morphology	23314	SATB2	ORPHA:251019
HP:0010161	Abnormal toe phalanx morphology	57167	SALL4	ORPHA:959
HP:0010161	Abnormal toe phalanx morphology	6299	SALL1	ORPHA:857
HP:0010161	Abnormal toe phalanx morphology	51339	DACT1	ORPHA:857
HP:0010161	Abnormal toe phalanx morphology	3764	KCNJ8	ORPHA:1517
HP:0010161	Abnormal toe phalanx morphology	10060	ABCC9	ORPHA:1517
HP:0010161	Abnormal toe phalanx morphology	2239	GPC4	ORPHA:2662
HP:0010161	Abnormal toe phalanx morphology	2313	FLI1	ORPHA:2308
HP:0010161	Abnormal toe phalanx morphology	727857	BHLHA9	OMIM:609432
HP:0010161	Abnormal toe phalanx morphology	60	ACTB	OMIM:243310
HP:0010161	Abnormal toe phalanx morphology	64327	LMBR1	OMIM:174500
HP:0010161	Abnormal toe phalanx morphology	9851	KIAA0753	OMIM:617127
HP:0010161	Abnormal toe phalanx morphology	374654	KIF7	OMIM:200990
HP:0010161	Abnormal toe phalanx morphology	219844	HYLS1	OMIM:236680
HP:0010161	Abnormal toe phalanx morphology	26005	C2CD3	ORPHA:434179
HP:0010161	Abnormal toe phalanx morphology	5744	PTHLH	ORPHA:93387
HP:0010161	Abnormal toe phalanx morphology	3239	HOXD13	OMIM:113200
HP:0010161	Abnormal toe phalanx morphology	10716	TBR1	ORPHA:1617
HP:0010161	Abnormal toe phalanx morphology	7291	TWIST1	OMIM:180750
HP:0010161	Abnormal toe phalanx morphology	51715	RAB23	OMIM:201000
HP:0010161	Abnormal toe phalanx morphology	124583	CANT1	OMIM:251450
HP:0010161	Abnormal toe phalanx morphology	4750	NEK1	ORPHA:2751
HP:0010161	Abnormal toe phalanx morphology	7476	WNT7A	OMIM:276820
HP:0010161	Abnormal toe phalanx morphology	9487	PIGL	ORPHA:3474
HP:0010161	Abnormal toe phalanx morphology	8626	TP63	OMIM:605289
HP:0010161	Abnormal toe phalanx morphology	57728	WDR19	OMIM:614378
HP:0010161	Abnormal toe phalanx morphology	5728	PTEN	ORPHA:79076
HP:0010161	Abnormal toe phalanx morphology	657	BMPR1A	ORPHA:79076
HP:0010161	Abnormal toe phalanx morphology	6792	CDKL5	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	3736	KCNA1	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	9091	PIGQ	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	2775	GNAO1	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	81603	TRIM8	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	2902	GRIN1	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	79751	SLC25A22	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	150094	SIK1	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	8573	CASK	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	23312	DMXL2	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	2917	GRM7	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	170302	ARX	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	11284	PNKP	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	6326	SCN2A	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	51227	PIGP	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	6324	SCN1B	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	4761	NEUROD2	ORPHA:1934
HP:0010161	Abnormal toe phalanx morphology	1303	COL12A1	ORPHA:610
HP:0010161	Abnormal toe phalanx morphology	1291	COL6A1	ORPHA:610
HP:0010161	Abnormal toe phalanx morphology	1292	COL6A2	ORPHA:610
HP:0010161	Abnormal toe phalanx morphology	1293	COL6A3	ORPHA:610
HP:0010161	Abnormal toe phalanx morphology	54101	RIPK4	ORPHA:1234
HP:0010161	Abnormal toe phalanx morphology	9653	HS2ST1	OMIM:619194
HP:0010161	Abnormal toe phalanx morphology	81857	MED25	ORPHA:464738
HP:0010161	Abnormal toe phalanx morphology	3549	IHH	OMIM:112500
HP:0010161	Abnormal toe phalanx morphology	526	ATP6V1B2	ORPHA:79500
HP:0010161	Abnormal toe phalanx morphology	57465	TBC1D24	ORPHA:79500
HP:0010161	Abnormal toe phalanx morphology	51776	MAP3K20	ORPHA:488232
HP:0010161	Abnormal toe phalanx morphology	79971	WLS	OMIM:619648
HP:0010161	Abnormal toe phalanx morphology	6608	SMO	OMIM:601707
HP:0010161	Abnormal toe phalanx morphology	55764	IFT122	OMIM:218330
HP:0010161	Abnormal toe phalanx morphology	4000	LMNA	ORPHA:2229
HP:0010161	Abnormal toe phalanx morphology	6597	SMARCA4	OMIM:614609
HP:0010161	Abnormal toe phalanx morphology	3782	KCNN3	OMIM:618658
HP:0010161	Abnormal toe phalanx morphology	285203	EOGT	OMIM:615297
HP:0010161	Abnormal toe phalanx morphology	8200	GDF5	ORPHA:2098
HP:0010161	Abnormal toe phalanx morphology	658	BMPR1B	ORPHA:2098
HP:0010161	Abnormal toe phalanx morphology	57492	ARID1B	OMIM:135900
HP:0010161	Abnormal toe phalanx morphology	3187	HNRNPH1	OMIM:620083
HP:0010161	Abnormal toe phalanx morphology	6595	SMARCA2	ORPHA:3051
HP:0010161	Abnormal toe phalanx morphology	7319	UBE2A	ORPHA:163956
HP:0010161	Abnormal toe phalanx morphology	3248	HPGD	ORPHA:217059
HP:0010161	Abnormal toe phalanx morphology	3248	HPGD	ORPHA:2796
HP:0010161	Abnormal toe phalanx morphology	3248	HPGD	ORPHA:1525
HP:0010161	Abnormal toe phalanx morphology	79651	RHBDF2	ORPHA:2198
HP:0010161	Abnormal toe phalanx morphology	672	BRCA1	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	10459	MAD2L2	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	7516	XRCC2	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	29089	UBE2T	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	675	BRCA2	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	55120	FANCL	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2177	FANCD2	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2175	FANCA	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2187	FANCB	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2176	FANCC	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2178	FANCE	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2188	FANCF	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2189	FANCG	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	5888	RAD51	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	5889	RAD51C	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	55159	RFWD3	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	83990	BRIP1	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	57697	FANCM	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	79728	PALB2	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	84464	SLX4	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	2072	ERCC4	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	55215	FANCI	ORPHA:84
HP:0010161	Abnormal toe phalanx morphology	6578	SLCO2A1	ORPHA:2796
HP:0010161	Abnormal toe phalanx morphology	7092	TLL1	ORPHA:99106
HP:0010164	Cone-shaped epiphyses of the toes	23102	TBC1D2B	ORPHA:397973
HP:0010168	Ivory epiphyses of the toes	9451	EIF2AK3	OMIM:226980
HP:0007110	Central hypoventilation	1639	DCTN1	ORPHA:178509
HP:0007110	Central hypoventilation	1639	DCTN1	OMIM:168605
HP:0007110	Central hypoventilation	4204	MECP2	OMIM:300673
HP:0007110	Central hypoventilation	91942	NDUFAF2	OMIM:618233
HP:0007110	Central hypoventilation	3198	HOXA1	OMIM:601536
HP:0007110	Central hypoventilation	10660	LBX1	OMIM:619483
HP:0007110	Central hypoventilation	84665	MYPN	ORPHA:171881
HP:0007110	Central hypoventilation	7169	TPM2	ORPHA:171881
HP:0007110	Central hypoventilation	7170	TPM3	ORPHA:171881
HP:0007110	Central hypoventilation	8929	PHOX2B	OMIM:209880
HP:0007110	Central hypoventilation	8929	PHOX2B	ORPHA:99803
HP:0007110	Central hypoventilation	5979	RET	ORPHA:99803
HP:0007110	Central hypoventilation	429	ASCL1	ORPHA:99803
HP:0007110	Central hypoventilation	54675	CRLS1	OMIM:620167
HP:0007110	Central hypoventilation	25915	NDUFAF3	ORPHA:70474
HP:0007110	Central hypoventilation	4714	NDUFB8	ORPHA:70474
HP:0007110	Central hypoventilation	4720	NDUFS2	ORPHA:70474
HP:0007110	Central hypoventilation	9997	SCO2	ORPHA:70474
HP:0007110	Central hypoventilation	6834	SURF1	ORPHA:70474
HP:0007112	Temporal cortical atrophy	5147	PDE6D	OMIM:615665
HP:0007112	Temporal cortical atrophy	4983	OPHN1	ORPHA:137831
HP:0007112	Temporal cortical atrophy	7415	VCP	OMIM:167320
HP:0007112	Temporal cortical atrophy	7415	VCP	ORPHA:100070
HP:0007112	Temporal cortical atrophy	104	ADARB1	OMIM:618862
HP:0007112	Temporal cortical atrophy	1528	CYB5A	ORPHA:621
HP:0007112	Temporal cortical atrophy	1727	CYB5R3	ORPHA:621
HP:0007112	Temporal cortical atrophy	9382	COG1	ORPHA:263508
HP:0007112	Temporal cortical atrophy	25978	CHMP2B	ORPHA:100070
HP:0007112	Temporal cortical atrophy	5663	PSEN1	ORPHA:100070
HP:0007112	Temporal cortical atrophy	2896	GRN	ORPHA:100070
HP:0007112	Temporal cortical atrophy	54664	TMEM106B	ORPHA:100070
HP:0007112	Temporal cortical atrophy	4137	MAPT	ORPHA:100070
HP:0007112	Temporal cortical atrophy	54209	TREM2	ORPHA:100070
HP:0007112	Temporal cortical atrophy	23261	CAMTA1	OMIM:614756
HP:0007112	Temporal cortical atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0007112	Temporal cortical atrophy	2917	GRM7	OMIM:618922
HP:0007112	Temporal cortical atrophy	57094	CPA6	OMIM:614418
HP:0007112	Temporal cortical atrophy	29998	BICRA	OMIM:619325
HP:0007112	Temporal cortical atrophy	4750	NEK1	OMIM:617892
HP:0007112	Temporal cortical atrophy	10347	ABCA7	OMIM:608907
HP:0007117	Corticospinal tract atrophy	4508	MT-ATP6	ORPHA:644
HP:0007117	Corticospinal tract atrophy	4508	MT-ATP6	OMIM:551500
HP:0000762	Decreased nerve conduction velocity	2074	ERCC6	OMIM:133540
HP:0000762	Decreased nerve conduction velocity	79784	MYH14	ORPHA:397744
HP:0000762	Decreased nerve conduction velocity	9131	AIFM1	ORPHA:101078
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309256
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309271
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309263
HP:0000762	Decreased nerve conduction velocity	410	ARSA	OMIM:250100
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309256
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	OMIM:249900
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309271
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:206436
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309263
HP:0000762	Decreased nerve conduction velocity	1593	CYP27A1	ORPHA:909
HP:0000762	Decreased nerve conduction velocity	5190	PEX6	OMIM:614863
HP:0000762	Decreased nerve conduction velocity	9782	MATR3	OMIM:606070
HP:0000762	Decreased nerve conduction velocity	9782	MATR3	ORPHA:600
HP:0000762	Decreased nerve conduction velocity	7167	TPI1	ORPHA:868
HP:0000762	Decreased nerve conduction velocity	10516	FBLN5	OMIM:608895
HP:0000762	Decreased nerve conduction velocity	10743	RAI1	ORPHA:477817
HP:0000762	Decreased nerve conduction velocity	5354	PLP1	ORPHA:280234
HP:0000762	Decreased nerve conduction velocity	2581	GALC	ORPHA:206443
HP:0000762	Decreased nerve conduction velocity	2581	GALC	ORPHA:206436
HP:0000762	Decreased nerve conduction velocity	2581	GALC	OMIM:245200
HP:0000762	Decreased nerve conduction velocity	6305	SBF1	OMIM:615284
HP:0000762	Decreased nerve conduction velocity	23114	NFASC	OMIM:618356
HP:0000762	Decreased nerve conduction velocity	25814	ATXN10	OMIM:603516
HP:0000762	Decreased nerve conduction velocity	1785	DNM2	OMIM:615368
HP:0000762	Decreased nerve conduction velocity	56947	MFF	ORPHA:485421
HP:0000762	Decreased nerve conduction velocity	5165	PDK3	ORPHA:352675
HP:0000762	Decreased nerve conduction velocity	1130	LYST	OMIM:214500
HP:0000762	Decreased nerve conduction velocity	1130	LYST	ORPHA:167
HP:0000762	Decreased nerve conduction velocity	4758	NEU1	ORPHA:812
HP:0000762	Decreased nerve conduction velocity	3508	IGHMBP2	OMIM:604320
HP:0000762	Decreased nerve conduction velocity	540	ATP7B	OMIM:277900
HP:0000762	Decreased nerve conduction velocity	6663	SOX10	OMIM:609136
HP:0000762	Decreased nerve conduction velocity	1161	ERCC8	OMIM:216400
HP:0000762	Decreased nerve conduction velocity	10166	SLC25A15	OMIM:238970
HP:0000762	Decreased nerve conduction velocity	87178	PNPT1	ORPHA:319514
HP:0000762	Decreased nerve conduction velocity	87178	PNPT1	OMIM:614932
HP:0000762	Decreased nerve conduction velocity	219285	SAMD9L	OMIM:159550
HP:0000762	Decreased nerve conduction velocity	84340	GFM2	ORPHA:565624
HP:0000762	Decreased nerve conduction velocity	8560	DEGS1	OMIM:618404
HP:0000762	Decreased nerve conduction velocity	3295	HSD17B4	OMIM:261515
HP:0000762	Decreased nerve conduction velocity	9639	ARHGEF10	OMIM:608236
HP:0000762	Decreased nerve conduction velocity	2200	FBN1	ORPHA:969
HP:0000762	Decreased nerve conduction velocity	4054	LTBP3	ORPHA:969
HP:0000762	Decreased nerve conduction velocity	8398	PLA2G6	OMIM:256600
HP:0000762	Decreased nerve conduction velocity	26090	ABHD12	OMIM:612674
HP:0000762	Decreased nerve conduction velocity	2071	ERCC3	OMIM:610651
HP:0000762	Decreased nerve conduction velocity	3908	LAMA2	OMIM:618138
HP:0000762	Decreased nerve conduction velocity	8449	DHX16	OMIM:618733
HP:0000762	Decreased nerve conduction velocity	8803	SUCLA2	ORPHA:1933
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	OMIM:162500
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	OMIM:118300
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	OMIM:118220
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	OMIM:180800
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	ORPHA:640
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	ORPHA:3115
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	ORPHA:101081
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	OMIM:618184
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	OMIM:180800
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	OMIM:118200
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	ORPHA:3115
HP:0000762	Decreased nerve conduction velocity	4000	LMNA	OMIM:605588
HP:0000762	Decreased nerve conduction velocity	4000	LMNA	ORPHA:98856
HP:0000762	Decreased nerve conduction velocity	11284	PNKP	OMIM:605589
HP:0000762	Decreased nerve conduction velocity	81857	MED25	OMIM:605589
HP:0000762	Decreased nerve conduction velocity	7384	UQCRC1	OMIM:619279
HP:0000762	Decreased nerve conduction velocity	8506	CNTNAP1	OMIM:618186
HP:0000762	Decreased nerve conduction velocity	22948	CCT5	ORPHA:139578
HP:0000762	Decreased nerve conduction velocity	22948	CCT5	OMIM:256840
HP:0000762	Decreased nerve conduction velocity	22880	MORC2	OMIM:616688
HP:0000762	Decreased nerve conduction velocity	7415	VCP	OMIM:616687
HP:0000762	Decreased nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0000762	Decreased nerve conduction velocity	9927	MFN2	OMIM:601152
HP:0000762	Decreased nerve conduction velocity	50717	DCAF8	OMIM:610100
HP:0000762	Decreased nerve conduction velocity	4747	NEFL	OMIM:607684
HP:0000762	Decreased nerve conduction velocity	4747	NEFL	OMIM:607734
HP:0000762	Decreased nerve conduction velocity	3315	HSPB1	OMIM:606595
HP:0000762	Decreased nerve conduction velocity	9990	SLC12A6	OMIM:620068
HP:0000762	Decreased nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0000762	Decreased nerve conduction velocity	8898	MTMR2	OMIM:601382
HP:0000762	Decreased nerve conduction velocity	7879	RAB7A	OMIM:600882
HP:0000762	Decreased nerve conduction velocity	57165	GJC2	OMIM:608804
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:607678
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:605253
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	9150	CTDP1	OMIM:604168
HP:0000762	Decreased nerve conduction velocity	56704	JPH1	OMIM:607831
HP:0000762	Decreased nerve conduction velocity	23095	KIF1B	OMIM:118210
HP:0000762	Decreased nerve conduction velocity	6652	SORD	OMIM:618912
HP:0000762	Decreased nerve conduction velocity	65055	REEP1	OMIM:614751
HP:0000762	Decreased nerve conduction velocity	90678	LRSAM1	OMIM:614436
HP:0000762	Decreased nerve conduction velocity	3710	ITPR3	OMIM:620111
HP:0000762	Decreased nerve conduction velocity	81846	SBF2	OMIM:604563
HP:0000762	Decreased nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0000762	Decreased nerve conduction velocity	9516	LITAF	OMIM:601098
HP:0000762	Decreased nerve conduction velocity	26278	SACS	OMIM:270550
HP:0000762	Decreased nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0000762	Decreased nerve conduction velocity	5428	POLG	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0000762	Decreased nerve conduction velocity	10280	SIGMAR1	OMIM:605726
HP:0000762	Decreased nerve conduction velocity	23250	ATP11A	OMIM:619851
HP:0000762	Decreased nerve conduction velocity	23321	TRIM2	OMIM:615490
HP:0000762	Decreased nerve conduction velocity	57449	PLEKHG5	OMIM:615376
HP:0000762	Decreased nerve conduction velocity	81545	FBXO38	OMIM:615575
HP:0000762	Decreased nerve conduction velocity	5631	PRPS1	ORPHA:1187
HP:0000762	Decreased nerve conduction velocity	259232	NALCN	OMIM:615419
HP:0000762	Decreased nerve conduction velocity	26580	BSCL2	OMIM:270685
HP:0000762	Decreased nerve conduction velocity	79628	SH3TC2	OMIM:601596
HP:0000762	Decreased nerve conduction velocity	79628	SH3TC2	ORPHA:99949
HP:0000762	Decreased nerve conduction velocity	10397	NDRG1	ORPHA:99950
HP:0000762	Decreased nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0000762	Decreased nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0000762	Decreased nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0000762	Decreased nerve conduction velocity	2705	GJB1	OMIM:302800
HP:0000762	Decreased nerve conduction velocity	9517	SPTLC2	OMIM:613640
HP:0000762	Decreased nerve conduction velocity	57716	PRX	OMIM:614895
HP:0000762	Decreased nerve conduction velocity	57716	PRX	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	16	AARS1	OMIM:613287
HP:0000762	Decreased nerve conduction velocity	128637	TBC1D20	OMIM:615663
HP:0000762	Decreased nerve conduction velocity	55775	TDP1	OMIM:607250
HP:0000762	Decreased nerve conduction velocity	84668	HYCC1	OMIM:610532
HP:0000762	Decreased nerve conduction velocity	23064	SETX	OMIM:606002
HP:0000762	Decreased nerve conduction velocity	9896	FIG4	OMIM:611228
HP:0000762	Decreased nerve conduction velocity	6342	SCP2	OMIM:613724
HP:0000762	Decreased nerve conduction velocity	2395	FXN	ORPHA:95
HP:0000762	Decreased nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0000762	Decreased nerve conduction velocity	121512	FGD4	OMIM:609311
HP:0000762	Decreased nerve conduction velocity	54463	RETREG1	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	65125	WNK1	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	6335	SCN9A	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	547	KIF1A	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	55768	NGLY1	OMIM:615273
HP:0000762	Decreased nerve conduction velocity	91574	MTRFR	ORPHA:320375
HP:0000762	Decreased nerve conduction velocity	10730	YME1L1	OMIM:617302
HP:0000762	Decreased nerve conduction velocity	28982	FLVCR1	OMIM:609033
HP:0000762	Decreased nerve conduction velocity	54332	GDAP1	ORPHA:99948
HP:0000762	Decreased nerve conduction velocity	3098	HK1	ORPHA:99953
HP:0010171	Epiphyseal stippling of toe phalanges	415	ARSL	ORPHA:79345
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	59341	TRPV4	OMIM:606835
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	5281	PIGF	OMIM:619356
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	9241	NOG	ORPHA:140908
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	415	ARSL	ORPHA:79345
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	3756	KCNH1	OMIM:135500
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	90	ACVR1	ORPHA:337
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	5744	PTHLH	ORPHA:93387
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	3239	HOXD13	ORPHA:93387
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	3549	IHH	OMIM:112500
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	7476	WNT7A	OMIM:276820
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	9487	PIGL	ORPHA:3474
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	8626	TP63	OMIM:605289
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	4920	ROR2	OMIM:113000
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	54101	RIPK4	ORPHA:1234
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	2239	GPC4	ORPHA:2662
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	51715	RAB23	OMIM:201000
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	526	ATP6V1B2	ORPHA:79500
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	57465	TBC1D24	ORPHA:79500
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	79971	WLS	OMIM:619648
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	4000	LMNA	ORPHA:2229
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	6597	SMARCA4	OMIM:614609
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	8200	GDF5	ORPHA:2098
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	658	BMPR1B	ORPHA:2098
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	57492	ARID1B	OMIM:135900
HP:0010174	Broad phalanx of the toes	2263	FGFR2	ORPHA:93260
HP:0010174	Broad phalanx of the toes	2263	FGFR2	ORPHA:1540
HP:0010174	Broad phalanx of the toes	2263	FGFR2	ORPHA:93258
HP:0010174	Broad phalanx of the toes	2263	FGFR2	ORPHA:93259
HP:0010174	Broad phalanx of the toes	2263	FGFR2	ORPHA:168624
HP:0010174	Broad phalanx of the toes	10664	CTCF	ORPHA:363611
HP:0010174	Broad phalanx of the toes	1387	CREBBP	OMIM:180849
HP:0010174	Broad phalanx of the toes	2033	EP300	OMIM:180849
HP:0010174	Broad phalanx of the toes	2737	GLI3	OMIM:175700
HP:0010174	Broad phalanx of the toes	2737	GLI3	ORPHA:380
HP:0010174	Broad phalanx of the toes	1947	EFNB1	ORPHA:1520
HP:0010174	Broad phalanx of the toes	64359	NXN	ORPHA:1507
HP:0010174	Broad phalanx of the toes	4920	ROR2	ORPHA:1507
HP:0010174	Broad phalanx of the toes	2260	FGFR1	ORPHA:93258
HP:0010174	Broad phalanx of the toes	2626	GATA4	ORPHA:251071
HP:0010174	Broad phalanx of the toes	285362	SUMF1	ORPHA:585
HP:0010174	Broad phalanx of the toes	650	BMP2	ORPHA:261295
HP:0010174	Broad phalanx of the toes	23314	SATB2	ORPHA:251019
HP:0010174	Broad phalanx of the toes	57167	SALL4	ORPHA:959
HP:0010174	Broad phalanx of the toes	6299	SALL1	ORPHA:857
HP:0010174	Broad phalanx of the toes	51339	DACT1	ORPHA:857
HP:0010174	Broad phalanx of the toes	3764	KCNJ8	ORPHA:1517
HP:0010174	Broad phalanx of the toes	10060	ABCC9	ORPHA:1517
HP:0010174	Broad phalanx of the toes	2239	GPC4	ORPHA:2662
HP:0010174	Broad phalanx of the toes	2313	FLI1	ORPHA:2308
HP:0010174	Broad phalanx of the toes	3239	HOXD13	OMIM:113200
HP:0010174	Broad phalanx of the toes	57728	WDR19	OMIM:614378
HP:0010174	Broad phalanx of the toes	5728	PTEN	ORPHA:79076
HP:0010174	Broad phalanx of the toes	657	BMPR1A	ORPHA:79076
HP:0010174	Broad phalanx of the toes	6792	CDKL5	ORPHA:1934
HP:0010174	Broad phalanx of the toes	3736	KCNA1	ORPHA:1934
HP:0010174	Broad phalanx of the toes	9091	PIGQ	ORPHA:1934
HP:0010174	Broad phalanx of the toes	2775	GNAO1	ORPHA:1934
HP:0010174	Broad phalanx of the toes	81603	TRIM8	ORPHA:1934
HP:0010174	Broad phalanx of the toes	2902	GRIN1	ORPHA:1934
HP:0010174	Broad phalanx of the toes	79751	SLC25A22	ORPHA:1934
HP:0010174	Broad phalanx of the toes	150094	SIK1	ORPHA:1934
HP:0010174	Broad phalanx of the toes	8573	CASK	ORPHA:1934
HP:0010174	Broad phalanx of the toes	23312	DMXL2	ORPHA:1934
HP:0010174	Broad phalanx of the toes	2917	GRM7	ORPHA:1934
HP:0010174	Broad phalanx of the toes	170302	ARX	ORPHA:1934
HP:0010174	Broad phalanx of the toes	11284	PNKP	ORPHA:1934
HP:0010174	Broad phalanx of the toes	6326	SCN2A	ORPHA:1934
HP:0010174	Broad phalanx of the toes	51227	PIGP	ORPHA:1934
HP:0010174	Broad phalanx of the toes	6324	SCN1B	ORPHA:1934
HP:0010174	Broad phalanx of the toes	4761	NEUROD2	ORPHA:1934
HP:0010174	Broad phalanx of the toes	9653	HS2ST1	OMIM:619194
HP:0010174	Broad phalanx of the toes	81857	MED25	ORPHA:464738
HP:0010175	Bullet-shaped toe phalanx	10716	TBR1	ORPHA:1617
HP:0010176	Curved toe phalanx	1303	COL12A1	ORPHA:610
HP:0010176	Curved toe phalanx	1291	COL6A1	ORPHA:610
HP:0010176	Curved toe phalanx	1292	COL6A2	ORPHA:610
HP:0010176	Curved toe phalanx	1293	COL6A3	ORPHA:610
HP:0010177	Osteolytic defects of the phalanges of the toes	1281	COL3A1	OMIM:130050
HP:0010177	Osteolytic defects of the phalanges of the toes	6335	SCN9A	ORPHA:970
HP:0010177	Osteolytic defects of the phalanges of the toes	6335	SCN9A	OMIM:201300
HP:0010177	Osteolytic defects of the phalanges of the toes	65125	WNK1	ORPHA:970
HP:0010177	Osteolytic defects of the phalanges of the toes	65125	WNK1	OMIM:201300
HP:0010177	Osteolytic defects of the phalanges of the toes	54463	RETREG1	ORPHA:970
HP:0010177	Osteolytic defects of the phalanges of the toes	54463	RETREG1	OMIM:201300
HP:0010177	Osteolytic defects of the phalanges of the toes	547	KIF1A	ORPHA:970
HP:0010177	Osteolytic defects of the phalanges of the toes	547	KIF1A	OMIM:201300
HP:0010177	Osteolytic defects of the phalanges of the toes	4853	NOTCH2	OMIM:102500
HP:0010177	Osteolytic defects of the phalanges of the toes	4000	LMNA	ORPHA:280365
HP:0010177	Osteolytic defects of the phalanges of the toes	4000	LMNA	OMIM:248370
HP:0010177	Osteolytic defects of the phalanges of the toes	4000	LMNA	ORPHA:90153
HP:0010177	Osteolytic defects of the phalanges of the toes	10269	ZMPSTE24	OMIM:608612
HP:0010177	Osteolytic defects of the phalanges of the toes	10269	ZMPSTE24	ORPHA:90154
HP:0010177	Osteolytic defects of the phalanges of the toes	10651	MTX2	ORPHA:90153
HP:0010179	Symphalangism affecting the phalanges of the toes	727857	BHLHA9	OMIM:609432
HP:0010179	Symphalangism affecting the phalanges of the toes	9241	NOG	OMIM:186500
HP:0010179	Symphalangism affecting the phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0007123	Subcortical dementia	57338	JPH3	OMIM:606438
HP:0007123	Subcortical dementia	2512	FTL	OMIM:606159
HP:0007123	Subcortical dementia	2512	FTL	ORPHA:157846
HP:0007123	Subcortical dementia	4854	NOTCH3	OMIM:125310
HP:0007129	Cerebellar medulloblastoma	324	APC	ORPHA:99818
HP:0007129	Cerebellar medulloblastoma	9817	KEAP1	ORPHA:276399
HP:0007129	Cerebellar medulloblastoma	23405	DICER1	ORPHA:276399
HP:0010180	Triangular shaped phalanges of the toes	9241	NOG	OMIM:186500
HP:0010180	Triangular shaped phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0010181	Duplication of phalanx of toe	60	ACTB	OMIM:243310
HP:0010181	Duplication of phalanx of toe	1387	CREBBP	OMIM:180849
HP:0010181	Duplication of phalanx of toe	2033	EP300	OMIM:180849
HP:0010181	Duplication of phalanx of toe	64327	LMBR1	OMIM:174500
HP:0010181	Duplication of phalanx of toe	9851	KIAA0753	OMIM:617127
HP:0010181	Duplication of phalanx of toe	374654	KIF7	OMIM:200990
HP:0010181	Duplication of phalanx of toe	219844	HYLS1	OMIM:236680
HP:0010181	Duplication of phalanx of toe	26005	C2CD3	ORPHA:434179
HP:0010181	Duplication of phalanx of toe	7291	TWIST1	OMIM:180750
HP:0010181	Duplication of phalanx of toe	51715	RAB23	OMIM:201000
HP:0010181	Duplication of phalanx of toe	124583	CANT1	OMIM:251450
HP:0010181	Duplication of phalanx of toe	4750	NEK1	ORPHA:2751
HP:0010182	Abnormality of the distal phalanges of the toes	59341	TRPV4	OMIM:606835
HP:0010182	Abnormality of the distal phalanges of the toes	5281	PIGF	OMIM:619356
HP:0010182	Abnormality of the distal phalanges of the toes	9241	NOG	ORPHA:140908
HP:0010182	Abnormality of the distal phalanges of the toes	415	ARSL	ORPHA:79345
HP:0010182	Abnormality of the distal phalanges of the toes	3756	KCNH1	OMIM:135500
HP:0010182	Abnormality of the distal phalanges of the toes	4000	LMNA	ORPHA:280365
HP:0010182	Abnormality of the distal phalanges of the toes	4000	LMNA	OMIM:248370
HP:0010182	Abnormality of the distal phalanges of the toes	4000	LMNA	ORPHA:90153
HP:0010182	Abnormality of the distal phalanges of the toes	10269	ZMPSTE24	OMIM:608612
HP:0010182	Abnormality of the distal phalanges of the toes	10269	ZMPSTE24	ORPHA:90154
HP:0010182	Abnormality of the distal phalanges of the toes	10651	MTX2	ORPHA:90153
HP:0010182	Abnormality of the distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010182	Abnormality of the distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010182	Abnormality of the distal phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0010182	Abnormality of the distal phalanges of the toes	5744	PTHLH	ORPHA:93387
HP:0010182	Abnormality of the distal phalanges of the toes	2260	FGFR1	OMIM:123150
HP:0010182	Abnormality of the distal phalanges of the toes	2263	FGFR2	OMIM:123150
HP:0010182	Abnormality of the distal phalanges of the toes	3239	HOXD13	OMIM:113200
HP:0010182	Abnormality of the distal phalanges of the toes	10716	TBR1	ORPHA:1617
HP:0010182	Abnormality of the distal phalanges of the toes	7291	TWIST1	OMIM:180750
HP:0010182	Abnormality of the distal phalanges of the toes	124583	CANT1	OMIM:251450
HP:0010182	Abnormality of the distal phalanges of the toes	4920	ROR2	OMIM:113000
HP:0010182	Abnormality of the distal phalanges of the toes	54101	RIPK4	ORPHA:1234
HP:0010182	Abnormality of the distal phalanges of the toes	2239	GPC4	ORPHA:2662
HP:0010182	Abnormality of the distal phalanges of the toes	9653	HS2ST1	OMIM:619194
HP:0010182	Abnormality of the distal phalanges of the toes	81857	MED25	ORPHA:464738
HP:0010182	Abnormality of the distal phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010182	Abnormality of the distal phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010182	Abnormality of the distal phalanges of the toes	57492	ARID1B	OMIM:135900
HP:0010183	Abnormality of the middle phalanges of the toes	59341	TRPV4	OMIM:606835
HP:0010183	Abnormality of the middle phalanges of the toes	2260	FGFR1	OMIM:101600
HP:0010183	Abnormality of the middle phalanges of the toes	2263	FGFR2	OMIM:101600
HP:0010183	Abnormality of the middle phalanges of the toes	2261	FGFR3	OMIM:602849
HP:0010183	Abnormality of the middle phalanges of the toes	3239	HOXD13	OMIM:186000
HP:0010183	Abnormality of the middle phalanges of the toes	51715	RAB23	OMIM:201000
HP:0010183	Abnormality of the middle phalanges of the toes	3549	IHH	OMIM:112500
HP:0010183	Abnormality of the middle phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010183	Abnormality of the middle phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010183	Abnormality of the middle phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010183	Abnormality of the middle phalanges of the toes	9241	NOG	OMIM:186500
HP:0010184	Abnormality of toe proximal phalanx	2260	FGFR1	OMIM:123150
HP:0010184	Abnormality of toe proximal phalanx	2263	FGFR2	OMIM:123150
HP:0010184	Abnormality of toe proximal phalanx	51776	MAP3K20	ORPHA:488232
HP:0010186	Broad distal phalanx of the toes	2260	FGFR1	OMIM:123150
HP:0010186	Broad distal phalanx of the toes	2263	FGFR2	OMIM:123150
HP:0010186	Broad distal phalanx of the toes	3239	HOXD13	OMIM:113200
HP:0010186	Broad distal phalanx of the toes	9653	HS2ST1	OMIM:619194
HP:0010186	Broad distal phalanx of the toes	81857	MED25	ORPHA:464738
HP:0010187	Bullet-shaped distal toe phalanx	10716	TBR1	ORPHA:1617
HP:0010189	Osteolytic defects of the distal phalanges of the toes	4000	LMNA	ORPHA:280365
HP:0010189	Osteolytic defects of the distal phalanges of the toes	4000	LMNA	OMIM:248370
HP:0010189	Osteolytic defects of the distal phalanges of the toes	4000	LMNA	ORPHA:90153
HP:0010189	Osteolytic defects of the distal phalanges of the toes	10269	ZMPSTE24	OMIM:608612
HP:0010189	Osteolytic defects of the distal phalanges of the toes	10269	ZMPSTE24	ORPHA:90154
HP:0010189	Osteolytic defects of the distal phalanges of the toes	10651	MTX2	ORPHA:90153
HP:0007281	Developmental stagnation	6304	SATB1	OMIM:619229
HP:0007281	Developmental stagnation	8869	ST3GAL5	OMIM:609056
HP:0007281	Developmental stagnation	23636	NUP62	OMIM:271930
HP:0007281	Developmental stagnation	6792	CDKL5	ORPHA:3095
HP:0007281	Developmental stagnation	22854	NTNG1	ORPHA:3095
HP:0007281	Developmental stagnation	9568	GABBR2	ORPHA:3095
HP:0007281	Developmental stagnation	9568	GABBR2	OMIM:617903
HP:0007281	Developmental stagnation	4204	MECP2	ORPHA:3095
HP:0007281	Developmental stagnation	8243	SMC1A	ORPHA:3095
HP:0007281	Developmental stagnation	176	ACAN	ORPHA:435804
HP:0007281	Developmental stagnation	6324	SCN1B	OMIM:617350
HP:0007281	Developmental stagnation	9326	ZNHIT3	OMIM:260565
HP:0007281	Developmental stagnation	55331	ACER3	OMIM:617762
HP:0007281	Developmental stagnation	25930	PTPN23	OMIM:618890
HP:0007281	Developmental stagnation	55823	VPS11	OMIM:616683
HP:0007281	Developmental stagnation	5917	RARS1	ORPHA:438114
HP:0007281	Developmental stagnation	2720	GLB1	OMIM:230600
HP:0007281	Developmental stagnation	5430	POLR2A	OMIM:618603
HP:0007281	Developmental stagnation	26227	PHGDH	ORPHA:79351
HP:0007281	Developmental stagnation	57192	MCOLN1	ORPHA:578
HP:0007281	Developmental stagnation	57192	MCOLN1	OMIM:252650
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	OMIM:139393
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:98916
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:3115
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:101081
HP:0007131	Acute demyelinating polyneuropathy	4359	MPZ	ORPHA:3115
HP:0007132	Pallidal degeneration	2639	GCDH	ORPHA:25
HP:0007132	Pallidal degeneration	80025	PANK2	OMIM:607236
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309271
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309263
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309256
HP:0007133	Progressive peripheral neuropathy	410	ARSA	OMIM:250100
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309271
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309263
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309256
HP:0007133	Progressive peripheral neuropathy	84334	COA8	ORPHA:436271
HP:0007133	Progressive peripheral neuropathy	1130	LYST	OMIM:214500
HP:0007133	Progressive peripheral neuropathy	19	ABCA1	ORPHA:31150
HP:0007266	Cerebral dysmyelination	1513	CTSK	ORPHA:763
HP:0007266	Cerebral dysmyelination	9289	ADGRG1	OMIM:606854
HP:0007266	Cerebral dysmyelination	9289	ADGRG1	ORPHA:101070
HP:0007266	Cerebral dysmyelination	5354	PLP1	OMIM:312080
HP:0007266	Cerebral dysmyelination	215	ABCD1	ORPHA:139399
HP:0007266	Cerebral dysmyelination	26227	PHGDH	OMIM:601815
HP:0007266	Cerebral dysmyelination	3295	HSD17B4	OMIM:261515
HP:0007266	Cerebral dysmyelination	5660	PSAP	OMIM:611722
HP:0007266	Cerebral dysmyelination	404672	GTF2H5	ORPHA:33364
HP:0007266	Cerebral dysmyelination	833	CARS1	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2068	ERCC2	ORPHA:33364
HP:0007266	Cerebral dysmyelination	7737	RNF113A	ORPHA:33364
HP:0007266	Cerebral dysmyelination	136647	MPLKIP	ORPHA:33364
HP:0007266	Cerebral dysmyelination	6897	TARS1	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2071	ERCC3	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2961	GTF2E2	ORPHA:33364
HP:0007266	Cerebral dysmyelination	6663	SOX10	OMIM:609136
HP:0007266	Cerebral dysmyelination	5728	PTEN	ORPHA:101070
HP:0007266	Cerebral dysmyelination	57192	MCOLN1	OMIM:252650
HP:0010193	Duplication of distal phalanx of toe	7291	TWIST1	OMIM:180750
HP:0010193	Duplication of distal phalanx of toe	124583	CANT1	OMIM:251450
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	3549	IHH	OMIM:112500
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	51715	RAB23	OMIM:201000
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	9241	NOG	OMIM:186500
HP:0007146	Bilateral basal ganglia lesions	91869	RFT1	ORPHA:244310
HP:0007146	Bilateral basal ganglia lesions	131118	DNAJC19	ORPHA:66634
HP:0007146	Bilateral basal ganglia lesions	1355	COX15	OMIM:615119
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	OMIM:600794
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	ORPHA:139536
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	OMIM:601472
HP:0007149	Distal upper limb amyotrophy	1311	COMP	OMIM:619161
HP:0007149	Distal upper limb amyotrophy	91252	SLC39A13	ORPHA:157965
HP:0007149	Distal upper limb amyotrophy	91252	SLC39A13	OMIM:612350
HP:0007149	Distal upper limb amyotrophy	8985	PLOD3	OMIM:612394
HP:0007149	Distal upper limb amyotrophy	8884	SLC5A6	OMIM:619903
HP:0007149	Distal upper limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0007149	Distal upper limb amyotrophy	65055	REEP1	OMIM:614751
HP:0007149	Distal upper limb amyotrophy	65055	REEP1	ORPHA:139536
HP:0007149	Distal upper limb amyotrophy	4703	NEB	OMIM:256030
HP:0007149	Distal upper limb amyotrophy	3710	ITPR3	OMIM:620111
HP:0007149	Distal upper limb amyotrophy	3425	IDUA	OMIM:607015
HP:0007149	Distal upper limb amyotrophy	80208	SPG11	OMIM:604360
HP:0007149	Distal upper limb amyotrophy	8729	GBF1	OMIM:606483
HP:0007149	Distal upper limb amyotrophy	59345	GNB4	OMIM:615185
HP:0007149	Distal upper limb amyotrophy	7143	TNR	OMIM:619653
HP:0007149	Distal upper limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0007149	Distal upper limb amyotrophy	65250	CPLANE1	ORPHA:65684
HP:0007149	Distal upper limb amyotrophy	57562	CEP126	ORPHA:65684
HP:0007149	Distal upper limb amyotrophy	2705	GJB1	OMIM:302800
HP:0007149	Distal upper limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0007149	Distal upper limb amyotrophy	2318	FLNC	OMIM:614065
HP:0007149	Distal upper limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0007149	Distal upper limb amyotrophy	64423	INF2	OMIM:614455
HP:0007149	Distal upper limb amyotrophy	7453	WARS1	OMIM:617721
HP:0007149	Distal upper limb amyotrophy	57863	CADM3	OMIM:619519
HP:0007149	Distal upper limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0007149	Distal upper limb amyotrophy	8878	SQSTM1	ORPHA:603
HP:0007149	Distal upper limb amyotrophy	7072	TIA1	ORPHA:603
HP:0007149	Distal upper limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007149	Distal upper limb amyotrophy	9782	MATR3	ORPHA:600
HP:0007149	Distal upper limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	55768	NGLY1	OMIM:615273
HP:0007149	Distal upper limb amyotrophy	23321	TRIM2	OMIM:615490
HP:0007149	Distal upper limb amyotrophy	182	JAG1	OMIM:619574
HP:0007149	Distal upper limb amyotrophy	22880	MORC2	OMIM:616688
HP:0007149	Distal upper limb amyotrophy	859	CAV3	OMIM:614321
HP:0007149	Distal upper limb amyotrophy	859	CAV3	ORPHA:488650
HP:0007149	Distal upper limb amyotrophy	374969	SVBP	OMIM:618569
HP:0007149	Distal upper limb amyotrophy	1678	TIMM8A	OMIM:304700
HP:0007149	Distal upper limb amyotrophy	6261	RYR1	ORPHA:178145
HP:0007149	Distal upper limb amyotrophy	55958	KLHL9	ORPHA:399081
HP:0007149	Distal upper limb amyotrophy	547	KIF1A	OMIM:614213
HP:0007149	Distal upper limb amyotrophy	57716	PRX	OMIM:614895
HP:0007149	Distal upper limb amyotrophy	3035	HARS1	ORPHA:488333
HP:0007149	Distal upper limb amyotrophy	400916	CHCHD10	ORPHA:276435
HP:0007149	Distal upper limb amyotrophy	11155	LDB3	ORPHA:98912
HP:0007149	Distal upper limb amyotrophy	4359	MPZ	ORPHA:3115
HP:0007149	Distal upper limb amyotrophy	1134	CHRNA1	OMIM:601462
HP:0007149	Distal upper limb amyotrophy	4141	MARS1	OMIM:616280
HP:0007149	Distal upper limb amyotrophy	284058	KANSL1	ORPHA:363965
HP:0007149	Distal upper limb amyotrophy	284058	KANSL1	ORPHA:363958
HP:0007149	Distal upper limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0007149	Distal upper limb amyotrophy	26580	BSCL2	ORPHA:100998
HP:0007149	Distal upper limb amyotrophy	57679	ALS2	OMIM:205100
HP:0007149	Distal upper limb amyotrophy	7415	VCP	ORPHA:435387
HP:0007149	Distal upper limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0007149	Distal upper limb amyotrophy	80199	FUZ	ORPHA:1136
HP:0007149	Distal upper limb amyotrophy	58	ACTA1	OMIM:616852
HP:0007149	Distal upper limb amyotrophy	10342	TFG	OMIM:615658
HP:0007149	Distal upper limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0007149	Distal upper limb amyotrophy	89874	SLC25A21	OMIM:618811
HP:0007149	Distal upper limb amyotrophy	54332	GDAP1	ORPHA:99944
HP:0007149	Distal upper limb amyotrophy	1639	DCTN1	OMIM:607641
HP:0007149	Distal upper limb amyotrophy	4000	LMNA	ORPHA:98856
HP:0007149	Distal upper limb amyotrophy	4747	NEFL	OMIM:607684
HP:0007149	Distal upper limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0007149	Distal upper limb amyotrophy	113278	SLC52A3	OMIM:211530
HP:0007149	Distal upper limb amyotrophy	2395	FXN	ORPHA:95
HP:0033001	Laryngeal papilloma	22861	NLRP1	OMIM:618803
HP:0033001	Laryngeal papilloma	22861	NLRP1	OMIM:617388
HP:0033001	Laryngeal papilloma	64840	PORCN	OMIM:305600
HP:0033004	Palmar warts	10625	IVNS1ABP	OMIM:618969
HP:0033004	Palmar warts	920	CD4	OMIM:619238
HP:0033005	Plantar warts	10625	IVNS1ABP	OMIM:618969
HP:0033005	Plantar warts	920	CD4	OMIM:619238
HP:0033005	Plantar warts	3981	LIG4	OMIM:606593
HP:0033008	Increased Z-disc width	442721	LMOD2	OMIM:619897
HP:0033008	Increased Z-disc width	339855	KY	OMIM:617114
HP:0033009	Increased fecal coproporphyrin 1	7390	UROS	OMIM:263700
HP:0033009	Increased fecal coproporphyrin 1	7390	UROS	ORPHA:79277
HP:0033009	Increased fecal coproporphyrin 1	2623	GATA1	ORPHA:79277
HP:0007153	Progressive extrapyramidal movement disorder	9640	ZNF592	ORPHA:83472
HP:0007153	Progressive extrapyramidal movement disorder	84942	WDR73	ORPHA:83472
HP:0007153	Progressive extrapyramidal movement disorder	10367	MICU1	ORPHA:401768
HP:0007153	Progressive extrapyramidal movement disorder	2593	GAMT	ORPHA:382
HP:0007153	Progressive extrapyramidal movement disorder	2593	GAMT	OMIM:612736
HP:0007153	Progressive extrapyramidal movement disorder	23400	ATP13A2	ORPHA:513436
HP:0007153	Progressive extrapyramidal movement disorder	8398	PLA2G6	ORPHA:199351
HP:0007153	Progressive extrapyramidal movement disorder	79152	FA2H	ORPHA:329308
HP:0007153	Progressive extrapyramidal movement disorder	81570	CLPB	ORPHA:445038
HP:0007153	Progressive extrapyramidal movement disorder	5917	RARS1	ORPHA:438114
HP:0007158	Progressive extrapyramidal muscular rigidity	5621	PRNP	ORPHA:282166
HP:0007158	Progressive extrapyramidal muscular rigidity	10367	MICU1	ORPHA:401768
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240112
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240103
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240071
HP:0007158	Progressive extrapyramidal muscular rigidity	6872	TAF1	ORPHA:53351
HP:0007159	Fluctuations in consciousness	10165	SLC25A13	ORPHA:247585
HP:0007159	Fluctuations in consciousness	4558	MT-TF	ORPHA:550
HP:0007159	Fluctuations in consciousness	4572	MT-TQ	ORPHA:550
HP:0007159	Fluctuations in consciousness	4512	MT-CO1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4513	MT-CO2	ORPHA:550
HP:0007159	Fluctuations in consciousness	4514	MT-CO3	ORPHA:550
HP:0007159	Fluctuations in consciousness	4578	MT-TW	ORPHA:550
HP:0007159	Fluctuations in consciousness	4540	MT-ND5	ORPHA:550
HP:0007159	Fluctuations in consciousness	4541	MT-ND6	ORPHA:550
HP:0007159	Fluctuations in consciousness	4535	MT-ND1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4538	MT-ND4	ORPHA:550
HP:0007159	Fluctuations in consciousness	4567	MT-TL1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4574	MT-TS1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4575	MT-TS2	ORPHA:550
HP:0007159	Fluctuations in consciousness	4564	MT-TH	ORPHA:550
HP:0007159	Fluctuations in consciousness	210	ALAD	ORPHA:100924
HP:0007159	Fluctuations in consciousness	4221	MEN1	ORPHA:97279
HP:0007159	Fluctuations in consciousness	7528	YY1	ORPHA:97279
HP:0007159	Fluctuations in consciousness	2629	GBA1	OMIM:127750
HP:0007159	Fluctuations in consciousness	6622	SNCA	OMIM:127750
HP:0007159	Fluctuations in consciousness	6620	SNCB	OMIM:127750
HP:0007159	Fluctuations in consciousness	25915	NDUFAF3	ORPHA:70474
HP:0007159	Fluctuations in consciousness	4714	NDUFB8	ORPHA:70474
HP:0007159	Fluctuations in consciousness	4720	NDUFS2	ORPHA:70474
HP:0007159	Fluctuations in consciousness	9997	SCO2	ORPHA:70474
HP:0007159	Fluctuations in consciousness	6834	SURF1	ORPHA:70474
HP:0033010	Increased fecal coproporphyrin 3	210	ALAD	ORPHA:100924
HP:0033010	Increased fecal coproporphyrin 3	1371	CPOX	OMIM:121300
HP:0033011	Platystencephaly	4330	MN1	OMIM:618774
HP:0033019	Male reproductive system neoplasm	6662	SOX9	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6845	VAMP7	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	51741	WWOX	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	4214	MAP3K1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	2516	NR5A1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	7490	WT1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	58524	DMRT3	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	57647	DHX37	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6736	SRY	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	23414	ZFPM2	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	190	NR0B1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	2626	GATA4	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6794	STK11	OMIM:175200
HP:0033019	Male reproductive system neoplasm	79577	CDC73	ORPHA:143
HP:0033019	Male reproductive system neoplasm	79577	CDC73	ORPHA:99880
HP:0033019	Male reproductive system neoplasm	284058	KANSL1	ORPHA:363965
HP:0033019	Male reproductive system neoplasm	284058	KANSL1	ORPHA:363958
HP:0033019	Male reproductive system neoplasm	2130	EWSR1	ORPHA:83469
HP:0033019	Male reproductive system neoplasm	5566	PRKACA	ORPHA:189439
HP:0033019	Male reproductive system neoplasm	8622	PDE8B	ORPHA:189439
HP:0033019	Male reproductive system neoplasm	412	STS	OMIM:308100
HP:0033019	Male reproductive system neoplasm	1027	CDKN1B	ORPHA:276152
HP:0033019	Male reproductive system neoplasm	207	AKT1	ORPHA:744
HP:0033019	Male reproductive system neoplasm	672	BRCA1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	7157	TP53	ORPHA:145
HP:0033019	Male reproductive system neoplasm	7157	TP53	OMIM:151623
HP:0033019	Male reproductive system neoplasm	7157	TP53	ORPHA:524
HP:0033019	Male reproductive system neoplasm	5892	RAD51D	ORPHA:145
HP:0033019	Male reproductive system neoplasm	675	BRCA2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	675	BRCA2	OMIM:176807
HP:0033019	Male reproductive system neoplasm	5728	PTEN	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5728	PTEN	OMIM:176807
HP:0033019	Male reproductive system neoplasm	10111	RAD50	ORPHA:145
HP:0033019	Male reproductive system neoplasm	580	BARD1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5888	RAD51	ORPHA:145
HP:0033019	Male reproductive system neoplasm	4683	NBN	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5889	RAD51C	ORPHA:145
HP:0033019	Male reproductive system neoplasm	83990	BRIP1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	4361	MRE11	ORPHA:145
HP:0033019	Male reproductive system neoplasm	79728	PALB2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	OMIM:176807
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	ORPHA:524
HP:0033019	Male reproductive system neoplasm	2048	EPHB2	OMIM:603688
HP:0033019	Male reproductive system neoplasm	463	ZFHX3	OMIM:176807
HP:0033019	Male reproductive system neoplasm	1316	KLF6	OMIM:176807
HP:0033019	Male reproductive system neoplasm	999	CDH1	OMIM:176807
HP:0033019	Male reproductive system neoplasm	367	AR	OMIM:176807
HP:0033019	Male reproductive system neoplasm	4601	MXI1	OMIM:176807
HP:0033019	Male reproductive system neoplasm	8379	MAD1L1	OMIM:176807
HP:0033019	Male reproductive system neoplasm	54894	RNF43	ORPHA:157798
HP:0033019	Male reproductive system neoplasm	6041	RNASEL	OMIM:601518
HP:0033019	Male reproductive system neoplasm	26585	GREM1	ORPHA:157794
HP:0033019	Male reproductive system neoplasm	657	BMPR1A	ORPHA:157794
HP:0033019	Male reproductive system neoplasm	2304	FOXE1	OMIM:616534
HP:0033019	Male reproductive system neoplasm	4665	NAB2	ORPHA:2126
HP:0033019	Male reproductive system neoplasm	6778	STAT6	ORPHA:2126
HP:0033019	Male reproductive system neoplasm	4913	NTHL1	OMIM:616415
HP:0033019	Male reproductive system neoplasm	324	APC	ORPHA:79665
HP:0033019	Male reproductive system neoplasm	7373	COL14A1	ORPHA:79501
HP:0033019	Male reproductive system neoplasm	79719	AAGAB	ORPHA:79501
HP:0033019	Male reproductive system neoplasm	1029	CDKN2A	ORPHA:524
HP:0033019	Male reproductive system neoplasm	4193	MDM2	ORPHA:524
HP:0033019	Male reproductive system neoplasm	56246	MRAP	ORPHA:361
HP:0033019	Male reproductive system neoplasm	6770	STAR	ORPHA:361
HP:0033019	Male reproductive system neoplasm	4158	MC2R	ORPHA:361
HP:0033019	Male reproductive system neoplasm	23530	NNT	ORPHA:361
HP:0033019	Male reproductive system neoplasm	10587	TXNRD2	ORPHA:361
HP:0033019	Male reproductive system neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0033019	Male reproductive system neoplasm	50940	PDE11A	ORPHA:1359
HP:0033019	Male reproductive system neoplasm	1584	CYP11B1	ORPHA:90795
HP:0033019	Male reproductive system neoplasm	3481	IGF2	OMIM:180860
HP:0033019	Male reproductive system neoplasm	9817	KEAP1	ORPHA:276399
HP:0033019	Male reproductive system neoplasm	23405	DICER1	ORPHA:276399
HP:0033019	Male reproductive system neoplasm	2313	FLI1	ORPHA:370348
HP:0007162	Diffuse demyelination of the cerebral white matter	2670	GFAP	OMIM:203450
HP:0007162	Diffuse demyelination of the cerebral white matter	5654	HTRA1	OMIM:600142
HP:0007162	Diffuse demyelination of the cerebral white matter	113179	ADAT3	ORPHA:363528
HP:0007162	Diffuse demyelination of the cerebral white matter	215	ABCD1	ORPHA:139396
HP:0007164	Slowed slurred speech	6687	SPG7	ORPHA:99013
HP:0007164	Slowed slurred speech	9829	DNAJC6	ORPHA:391411
HP:0007164	Slowed slurred speech	5420	PODXL	ORPHA:391411
HP:0007164	Slowed slurred speech	8867	SYNJ1	ORPHA:391411
HP:0007164	Slowed slurred speech	55367	PIDD1	OMIM:619827
HP:0007164	Slowed slurred speech	4137	MAPT	ORPHA:240071
HP:0007166	Paroxysmal dyskinesia	6334	SCN8A	OMIM:617080
HP:0007166	Paroxysmal dyskinesia	6334	SCN8A	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	111	ADCY5	OMIM:606703
HP:0007166	Paroxysmal dyskinesia	5138	PDE2A	OMIM:619150
HP:0007166	Paroxysmal dyskinesia	5138	PDE2A	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	51102	MECR	OMIM:617282
HP:0007166	Paroxysmal dyskinesia	25970	SH2B1	ORPHA:261197
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	OMIM:618596
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	OMIM:609446
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	ORPHA:79137
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:98811
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:98810
HP:0007166	Paroxysmal dyskinesia	773	CACNA1A	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	6507	SLC1A3	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	477	ATP1A2	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	478	ATP1A3	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	6513	SLC2A1	ORPHA:98811
HP:0007166	Paroxysmal dyskinesia	6513	SLC2A1	ORPHA:53583
HP:0007166	Paroxysmal dyskinesia	2902	GRIN1	ORPHA:208447
HP:0007166	Paroxysmal dyskinesia	25953	PNKD	ORPHA:98810
HP:0033020	Female reproductive system neoplasm	2271	FH	OMIM:150800
HP:0033020	Female reproductive system neoplasm	2271	FH	ORPHA:523
HP:0033020	Female reproductive system neoplasm	79577	CDC73	ORPHA:143
HP:0033020	Female reproductive system neoplasm	79577	CDC73	ORPHA:99880
HP:0033020	Female reproductive system neoplasm	2261	FGFR3	OMIM:616482
HP:0033020	Female reproductive system neoplasm	4437	MSH3	ORPHA:480536
HP:0033020	Female reproductive system neoplasm	4437	MSH3	OMIM:617100
HP:0033020	Female reproductive system neoplasm	6714	SRC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	201163	FLCN	OMIM:114500
HP:0033020	Female reproductive system neoplasm	10395	DLC1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	11200	CHEK2	OMIM:114500
HP:0033020	Female reproductive system neoplasm	8313	AXIN2	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5290	PIK3CA	OMIM:114500
HP:0033020	Female reproductive system neoplasm	2033	EP300	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5782	PTPN12	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5320	PLA2G2A	OMIM:114500
HP:0033020	Female reproductive system neoplasm	6790	AURKA	OMIM:114500
HP:0033020	Female reproductive system neoplasm	1630	DCC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	27030	MLH3	OMIM:114500
HP:0033020	Female reproductive system neoplasm	581	BAX	OMIM:114500
HP:0033020	Female reproductive system neoplasm	25788	RAD54B	OMIM:114500
HP:0033020	Female reproductive system neoplasm	595	CCND1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	699	BUB1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	701	BUB1B	OMIM:114500
HP:0033020	Female reproductive system neoplasm	7097	TLR2	OMIM:114500
HP:0033020	Female reproductive system neoplasm	4893	NRAS	OMIM:114500
HP:0033020	Female reproductive system neoplasm	324	APC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	1499	CTNNB1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	7157	TP53	OMIM:114500
HP:0033020	Female reproductive system neoplasm	4163	MCC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	207	AKT1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5157	PDGFRL	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5795	PTPRJ	OMIM:114500
HP:0033020	Female reproductive system neoplasm	673	BRAF	OMIM:114500
HP:0033020	Female reproductive system neoplasm	64218	SEMA4A	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	657	BMPR1A	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	6224	RPS20	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	4665	NAB2	ORPHA:2126
HP:0033020	Female reproductive system neoplasm	6778	STAT6	ORPHA:2126
HP:0033020	Female reproductive system neoplasm	6794	STK11	OMIM:175200
HP:0033020	Female reproductive system neoplasm	5728	PTEN	ORPHA:109
HP:0033020	Female reproductive system neoplasm	2313	FLI1	ORPHA:370348
HP:0033020	Female reproductive system neoplasm	1288	COL4A6	ORPHA:1018
HP:0033020	Female reproductive system neoplasm	1287	COL4A5	ORPHA:1018
HP:0033020	Female reproductive system neoplasm	4292	MLH1	ORPHA:587
HP:0033020	Female reproductive system neoplasm	2956	MSH6	ORPHA:587
HP:0033020	Female reproductive system neoplasm	2956	MSH6	OMIM:614350
HP:0033020	Female reproductive system neoplasm	2956	MSH6	OMIM:608089
HP:0033020	Female reproductive system neoplasm	4436	MSH2	ORPHA:587
HP:0033020	Female reproductive system neoplasm	10483	SEC23B	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6390	SDHB	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6392	SDHD	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6391	SDHC	ORPHA:201
HP:0033020	Female reproductive system neoplasm	205717	USF3	ORPHA:201
HP:0033020	Female reproductive system neoplasm	100144748	KLLN	ORPHA:201
HP:0033020	Female reproductive system neoplasm	388662	SLC6A17	ORPHA:457212
HP:0033020	Female reproductive system neoplasm	5424	POLD1	OMIM:612591
HP:0033020	Female reproductive system neoplasm	5424	POLD1	ORPHA:447877
HP:0033020	Female reproductive system neoplasm	26585	GREM1	ORPHA:157794
HP:0033020	Female reproductive system neoplasm	4913	NTHL1	ORPHA:454840
HP:0033020	Female reproductive system neoplasm	4913	NTHL1	OMIM:616415
HP:0033020	Female reproductive system neoplasm	4072	EPCAM	OMIM:613244
HP:0033020	Female reproductive system neoplasm	5395	PMS2	OMIM:614337
HP:0033020	Female reproductive system neoplasm	5426	POLE	ORPHA:447877
HP:0033020	Female reproductive system neoplasm	999	CDH1	OMIM:608089
HP:0033020	Female reproductive system neoplasm	81704	DOCK8	ORPHA:217390
HP:0033020	Female reproductive system neoplasm	9184	BUB3	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	9702	CEP57	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	9319	TRIP13	ORPHA:1052
HP:0033026	White oral mucosal macule	64131	XYLT1	OMIM:264800
HP:0033026	White oral mucosal macule	64132	XYLT2	OMIM:264800
HP:0033026	White oral mucosal macule	368	ABCC6	OMIM:264800
HP:0033027	Retinal peau d'orange	2677	GGCX	OMIM:610842
HP:0033027	Retinal peau d'orange	64131	XYLT1	OMIM:264800
HP:0033027	Retinal peau d'orange	64132	XYLT2	OMIM:264800
HP:0033027	Retinal peau d'orange	368	ABCC6	OMIM:264800
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	8651	SOCS1	OMIM:619375
HP:0007178	Motor polyneuropathy	210	ALAD	ORPHA:100924
HP:0007178	Motor polyneuropathy	3094	HINT1	ORPHA:324442
HP:0007178	Motor polyneuropathy	23345	SYNE1	ORPHA:88644
HP:0007178	Motor polyneuropathy	5631	PRPS1	ORPHA:411543
HP:0007178	Motor polyneuropathy	7317	UBA1	ORPHA:1145
HP:0007178	Motor polyneuropathy	51692	CPSF3	OMIM:619876
HP:0007178	Motor polyneuropathy	2617	GARS1	ORPHA:139536
HP:0007178	Motor polyneuropathy	26580	BSCL2	ORPHA:139536
HP:0007178	Motor polyneuropathy	65055	REEP1	ORPHA:139536
HP:0007178	Motor polyneuropathy	9997	SCO2	ORPHA:521411
HP:0007178	Motor polyneuropathy	5832	ALDH18A1	ORPHA:447757
HP:0007178	Motor polyneuropathy	5832	ALDH18A1	OMIM:601162
HP:0007178	Motor polyneuropathy	1130	LYST	ORPHA:167
HP:0007178	Motor polyneuropathy	9150	CTDP1	OMIM:604168
HP:0007178	Motor polyneuropathy	80208	SPG11	ORPHA:2822
HP:0007178	Motor polyneuropathy	80208	SPG11	OMIM:604360
HP:0007178	Motor polyneuropathy	23204	ARL6IP1	OMIM:615685
HP:0007178	Motor polyneuropathy	23204	ARL6IP1	ORPHA:401780
HP:0007178	Motor polyneuropathy	9131	AIFM1	OMIM:300816
HP:0007178	Motor polyneuropathy	60482	SLC5A7	ORPHA:98914
HP:0007178	Motor polyneuropathy	4649	MYO9A	ORPHA:98914
HP:0007178	Motor polyneuropathy	1305	COL13A1	ORPHA:98914
HP:0007178	Motor polyneuropathy	1103	CHAT	ORPHA:98914
HP:0007178	Motor polyneuropathy	6576	SLC25A1	ORPHA:98914
HP:0007178	Motor polyneuropathy	6843	VAMP1	ORPHA:98914
HP:0007178	Motor polyneuropathy	375790	AGRN	ORPHA:98914
HP:0007178	Motor polyneuropathy	127833	SYT2	ORPHA:98914
HP:0007178	Motor polyneuropathy	6572	SLC18A3	ORPHA:98914
HP:0007178	Motor polyneuropathy	6616	SNAP25	ORPHA:98914
HP:0007178	Motor polyneuropathy	1371	CPOX	ORPHA:79273
HP:0007178	Motor polyneuropathy	5498	PPOX	ORPHA:79473
HP:0007178	Motor polyneuropathy	3145	HMBS	ORPHA:79276
HP:0007178	Motor polyneuropathy	59341	TRPV4	OMIM:181405
HP:0007178	Motor polyneuropathy	9990	SLC12A6	OMIM:218000
HP:0007178	Motor polyneuropathy	246243	RNASEH1	OMIM:616479
HP:0007178	Motor polyneuropathy	85465	SELENOI	ORPHA:506353
HP:0007178	Motor polyneuropathy	57165	GJC2	OMIM:608804
HP:0007178	Motor polyneuropathy	10342	TFG	OMIM:615658
HP:0007178	Motor polyneuropathy	4747	NEFL	ORPHA:99939
HP:0007178	Motor polyneuropathy	4747	NEFL	ORPHA:101085
HP:0007179	Absent smooth pursuit	6904	TBCD	ORPHA:496641
HP:0007179	Absent smooth pursuit	6904	TBCD	OMIM:617193
HP:0007179	Absent smooth pursuit	2259	FGF14	OMIM:193003
HP:0007179	Absent smooth pursuit	8818	DPM2	ORPHA:329178
HP:0007179	Absent smooth pursuit	5917	RARS1	OMIM:616140
HP:0007179	Absent smooth pursuit	5917	RARS1	ORPHA:438114
HP:0033031	Hyperpyrexia	667	DST	OMIM:614653
HP:0033034	Anti-citrullinated protein antibody positivity	6583	SLC22A4	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	26191	PTPN22	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	4261	CIITA	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	51744	CD244	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	4795	NFKBIL1	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	3586	IL10	OMIM:180300
HP:0033036	Decreased nasal nitric oxide	374407	DNAJB13	OMIM:617091
HP:0033036	Decreased nasal nitric oxide	139212	DNAAF6	OMIM:300991
HP:0033036	Decreased nasal nitric oxide	85016	CFAP300	OMIM:618063
HP:0033036	Decreased nasal nitric oxide	83538	ODAD4	OMIM:617092
HP:0033036	Decreased nasal nitric oxide	92749	DRC1	OMIM:615294
HP:0033036	Decreased nasal nitric oxide	1770	DNAH9	OMIM:618300
HP:0033036	Decreased nasal nitric oxide	83861	RSPH3	OMIM:616481
HP:0033036	Decreased nasal nitric oxide	23568	ARL2BP	OMIM:615434
HP:0033036	Decreased nasal nitric oxide	10309	CCNO	OMIM:615872
HP:0033036	Decreased nasal nitric oxide	64446	DNAI2	OMIM:612444
HP:0033036	Decreased nasal nitric oxide	345895	RSPH4A	OMIM:612649
HP:0033036	Decreased nasal nitric oxide	89765	RSPH1	OMIM:615481
HP:0033036	Decreased nasal nitric oxide	345643	MCIDAS	OMIM:618695
HP:0033036	Decreased nasal nitric oxide	115399	LRRC56	OMIM:618254
HP:0033036	Decreased nasal nitric oxide	57728	WDR19	OMIM:614378
HP:0033036	Decreased nasal nitric oxide	56683	CFAP298	OMIM:615500
HP:0033036	Decreased nasal nitric oxide	221421	RSPH9	OMIM:612650
HP:0033036	Decreased nasal nitric oxide	54919	DNAAF5	OMIM:614874
HP:0033036	Decreased nasal nitric oxide	146845	CFAP52	OMIM:619607
HP:0033036	Decreased nasal nitric oxide	51364	ZMYND10	OMIM:615444
HP:0033036	Decreased nasal nitric oxide	25790	CFAP45	OMIM:619608
HP:0033036	Decreased nasal nitric oxide	115948	ODAD3	OMIM:616037
HP:0033036	Decreased nasal nitric oxide	85478	CCDC65	OMIM:615504
HP:0033036	Decreased nasal nitric oxide	8701	DNAH11	OMIM:611884
HP:0033036	Decreased nasal nitric oxide	6674	SPAG1	OMIM:615505
HP:0033036	Decreased nasal nitric oxide	1767	DNAH5	OMIM:608644
HP:0033036	Decreased nasal nitric oxide	85452	CFAP74	OMIM:620197
HP:0007181	Interosseus muscle atrophy	2617	GARS1	OMIM:600794
HP:0007181	Interosseus muscle atrophy	2617	GARS1	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	2617	GARS1	OMIM:601472
HP:0007181	Interosseus muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	26580	BSCL2	OMIM:270685
HP:0007181	Interosseus muscle atrophy	65055	REEP1	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0007181	Interosseus muscle atrophy	26092	TOR1AIP1	OMIM:617072
HP:0007183	Focal T2 hyperintense basal ganglia lesion	6389	SDHA	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	80704	SLC19A3	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	91942	NDUFAF2	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	6834	SURF1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4723	NDUFV1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	55572	FOXRED1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4729	NDUFV2	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	55967	NDUFA12	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51204	TACO1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51204	TACO1	OMIM:619052
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4720	NDUFS2	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4724	NDUFS4	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4724	NDUFS4	OMIM:252010
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4728	NDUFS8	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	137682	NDUFAF6	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4722	NDUFS3	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	79133	NDUFAF5	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	5160	PDHA1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	100131801	PET100	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	1355	COX15	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	1892	ECHS1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	123263	MTFMT	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51079	NDUFA13	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	374291	NDUFS7	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4705	NDUFA10	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51601	LIPT1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4719	NDUFS1	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4719	NDUFS1	OMIM:618226
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4695	NDUFA2	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4697	NDUFA4	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4704	NDUFA9	ORPHA:255241
HP:0007183	Focal T2 hyperintense basal ganglia lesion	8802	SUCLG1	OMIM:245400
HP:0007183	Focal T2 hyperintense basal ganglia lesion	5621	PRNP	ORPHA:282166
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4535	MT-ND1	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4536	MT-ND2	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4537	MT-ND3	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4538	MT-ND4	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4567	MT-TL1	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4578	MT-TW	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4577	MT-TV	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4508	MT-ATP6	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4540	MT-ND5	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4541	MT-ND6	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4566	MT-TK	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	57107	PDSS2	ORPHA:255249
HP:0007183	Focal T2 hyperintense basal ganglia lesion	57107	PDSS2	OMIM:614652
HP:0007183	Focal T2 hyperintense basal ganglia lesion	27235	COQ2	ORPHA:255249
HP:0007183	Focal T2 hyperintense basal ganglia lesion	85365	ALG2	OMIM:607906
HP:0007183	Focal T2 hyperintense basal ganglia lesion	80208	SPG11	ORPHA:2822
HP:0007183	Focal T2 hyperintense basal ganglia lesion	2670	GFAP	ORPHA:363717
HP:0007183	Focal T2 hyperintense basal ganglia lesion	23474	ETHE1	OMIM:602473
HP:0007183	Focal T2 hyperintense basal ganglia lesion	10128	LRPPRC	ORPHA:70472
HP:0007183	Focal T2 hyperintense basal ganglia lesion	10846	PDE10A	ORPHA:494541
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51102	MECR	ORPHA:508093
HP:0007185	Loss of consciousness	1374	CPT1A	ORPHA:156
HP:0007185	Loss of consciousness	3767	KCNJ11	ORPHA:276580
HP:0007185	Loss of consciousness	2639	GCDH	ORPHA:25
HP:0007185	Loss of consciousness	4854	NOTCH3	ORPHA:136
HP:0007185	Loss of consciousness	34	ACADM	ORPHA:42
HP:0007185	Loss of consciousness	100151683	RNU4ATAC	OMIM:210710
HP:0007185	Loss of consciousness	4519	MT-CYB	ORPHA:137675
HP:0007185	Loss of consciousness	162417	NAGS	ORPHA:927
HP:0007185	Loss of consciousness	3753	KCNE1	ORPHA:90647
HP:0007185	Loss of consciousness	3784	KCNQ1	ORPHA:90647
HP:0007185	Loss of consciousness	132158	GLYCTK	ORPHA:941
HP:0007185	Loss of consciousness	80704	SLC19A3	ORPHA:263410
HP:0007185	Loss of consciousness	6927	HNF1A	ORPHA:324575
HP:0007185	Loss of consciousness	51733	UPB1	OMIM:613161
HP:0007185	Loss of consciousness	135	ADORA2A	ORPHA:363549
HP:0007185	Loss of consciousness	4665	NAB2	ORPHA:2126
HP:0007185	Loss of consciousness	6778	STAT6	ORPHA:2126
HP:0007185	Loss of consciousness	4552	MTRR	ORPHA:2169
HP:0007185	Loss of consciousness	7351	UCP2	ORPHA:276556
HP:0007185	Loss of consciousness	6833	ABCC8	ORPHA:276575
HP:0007185	Loss of consciousness	2710	GK	OMIM:307030
HP:0007185	Loss of consciousness	100996717	NOTCH2NLC	OMIM:603472
HP:0007185	Loss of consciousness	7187	TRAF3	ORPHA:1930
HP:0007185	Loss of consciousness	81622	UNC93B1	ORPHA:1930
HP:0007185	Loss of consciousness	148022	TICAM1	ORPHA:1930
HP:0007185	Loss of consciousness	7098	TLR3	ORPHA:1930
HP:0007185	Loss of consciousness	29110	TBK1	ORPHA:1930
HP:0007187	Focal lissencephaly	2879	GPX4	OMIM:250220
HP:0007188	Congenital facial diplegia	84570	COL25A1	ORPHA:91411
HP:0007188	Congenital facial diplegia	79776	ZFHX4	ORPHA:91411
HP:0033044	Motor regression	128	ADH5	OMIM:619151
HP:0033044	Motor regression	51611	DPH5	OMIM:620070
HP:0033044	Motor regression	10128	LRPPRC	OMIM:220111
HP:0033044	Motor regression	27247	NFU1	OMIM:605711
HP:0033044	Motor regression	84265	POLR3GL	OMIM:619234
HP:0033044	Motor regression	79991	STN1	OMIM:617341
HP:0033044	Motor regression	55768	NGLY1	OMIM:615273
HP:0033044	Motor regression	122553	TRAPPC6B	OMIM:617862
HP:0033044	Motor regression	4700	NDUFA6	OMIM:618253
HP:0033044	Motor regression	51728	POLR3K	OMIM:619310
HP:0033044	Motor regression	2058	EPRS1	OMIM:617951
HP:0033044	Motor regression	1355	COX15	OMIM:615119
HP:0033044	Motor regression	2720	GLB1	OMIM:230600
HP:0033044	Motor regression	3295	HSD17B4	OMIM:261515
HP:0033044	Motor regression	85465	SELENOI	OMIM:618768
HP:0033044	Motor regression	2055	CLN8	ORPHA:1947
HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	23446	SLC44A1	OMIM:618868
HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	54676	GTPBP2	OMIM:617988
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	23446	SLC44A1	OMIM:618868
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	9757	KMT2B	ORPHA:589618
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	54676	GTPBP2	OMIM:617988
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	64601	VPS16	OMIM:619291
HP:0007190	Neuronal loss in the cerebral cortex	5091	PC	OMIM:266150
HP:0007190	Neuronal loss in the cerebral cortex	5277	PIGA	OMIM:301072
HP:0007190	Neuronal loss in the cerebral cortex	2521	FUS	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	8878	SQSTM1	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	7415	VCP	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	23435	TARDBP	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	29110	TBK1	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	400916	CHCHD10	ORPHA:275872
HP:0010864	Intellectual disability, severe	7528	YY1	ORPHA:506358
HP:0010864	Intellectual disability, severe	2218	FKTN	ORPHA:272
HP:0010864	Intellectual disability, severe	2218	FKTN	OMIM:236670
HP:0010864	Intellectual disability, severe	11253	MAN1B1	ORPHA:397941
HP:0010864	Intellectual disability, severe	4204	MECP2	ORPHA:1762
HP:0010864	Intellectual disability, severe	4204	MECP2	ORPHA:3077
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300673
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300055
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300260
HP:0010864	Intellectual disability, severe	26040	SETBP1	ORPHA:436151
HP:0010864	Intellectual disability, severe	1788	DNMT3A	ORPHA:404443
HP:0010864	Intellectual disability, severe	51	ACOX1	ORPHA:2971
HP:0010864	Intellectual disability, severe	51	ACOX1	OMIM:264470
HP:0010864	Intellectual disability, severe	10084	PQBP1	ORPHA:93950
HP:0010864	Intellectual disability, severe	3190	HNRNPK	ORPHA:453504
HP:0010864	Intellectual disability, severe	3190	HNRNPK	ORPHA:352665
HP:0010864	Intellectual disability, severe	2593	GAMT	ORPHA:382
HP:0010864	Intellectual disability, severe	2593	GAMT	OMIM:612736
HP:0010864	Intellectual disability, severe	166378	AFG2A	OMIM:616577
HP:0010864	Intellectual disability, severe	10501	SEMA6B	OMIM:618876
HP:0010864	Intellectual disability, severe	2132	EXT2	ORPHA:466926
HP:0010864	Intellectual disability, severe	57231	SNX14	ORPHA:397709
HP:0010864	Intellectual disability, severe	5189	PEX1	OMIM:214100
HP:0010864	Intellectual disability, severe	55650	PIGV	OMIM:239300
HP:0010864	Intellectual disability, severe	55650	PIGV	ORPHA:247262
HP:0010864	Intellectual disability, severe	284403	WDR62	OMIM:604317
HP:0010864	Intellectual disability, severe	284403	WDR62	ORPHA:2512
HP:0010864	Intellectual disability, severe	2590	GALNT2	OMIM:618885
HP:0010864	Intellectual disability, severe	818	CAMK2G	OMIM:618522
HP:0010864	Intellectual disability, severe	284058	KANSL1	ORPHA:363958
HP:0010864	Intellectual disability, severe	284058	KANSL1	ORPHA:363965
HP:0010864	Intellectual disability, severe	3064	HTT	OMIM:617435
HP:0010864	Intellectual disability, severe	7994	KAT6A	ORPHA:457193
HP:0010864	Intellectual disability, severe	9326	ZNHIT3	ORPHA:2836
HP:0010864	Intellectual disability, severe	547	KIF1A	ORPHA:2836
HP:0010864	Intellectual disability, severe	1183	CLCN4	ORPHA:485350
HP:0010864	Intellectual disability, severe	5354	PLP1	ORPHA:280210
HP:0010864	Intellectual disability, severe	5354	PLP1	ORPHA:280224
HP:0010864	Intellectual disability, severe	23096	IQSEC2	ORPHA:397933
HP:0010864	Intellectual disability, severe	1605	DAG1	ORPHA:280333
HP:0010864	Intellectual disability, severe	1605	DAG1	ORPHA:370997
HP:0010864	Intellectual disability, severe	171023	ASXL1	ORPHA:97297
HP:0010864	Intellectual disability, severe	10815	CPLX1	ORPHA:280
HP:0010864	Intellectual disability, severe	10815	CPLX1	OMIM:194190
HP:0010864	Intellectual disability, severe	54872	PIGG	ORPHA:280
HP:0010864	Intellectual disability, severe	7469	NELFA	ORPHA:280
HP:0010864	Intellectual disability, severe	1487	CTBP1	ORPHA:280
HP:0010864	Intellectual disability, severe	1487	CTBP1	OMIM:194190
HP:0010864	Intellectual disability, severe	3954	LETM1	ORPHA:280
HP:0010864	Intellectual disability, severe	3954	LETM1	OMIM:194190
HP:0010864	Intellectual disability, severe	7468	NSD2	ORPHA:280
HP:0010864	Intellectual disability, severe	7468	NSD2	OMIM:194190
HP:0010864	Intellectual disability, severe	1501	CTNND2	ORPHA:281
HP:0010864	Intellectual disability, severe	9037	SEMA5A	ORPHA:281
HP:0010864	Intellectual disability, severe	84314	TMEM107	OMIM:617563
HP:0010864	Intellectual disability, severe	2903	GRIN2A	ORPHA:289266
HP:0010864	Intellectual disability, severe	1482	NKX2-5	OMIM:225250
HP:0010864	Intellectual disability, severe	1482	NKX2-5	ORPHA:95713
HP:0010864	Intellectual disability, severe	1482	NKX2-5	ORPHA:95712
HP:0010864	Intellectual disability, severe	4247	MGAT2	OMIM:212066
HP:0010864	Intellectual disability, severe	5518	PPP2R1A	OMIM:616362
HP:0010864	Intellectual disability, severe	2261	FGFR3	OMIM:616482
HP:0010864	Intellectual disability, severe	2261	FGFR3	ORPHA:85165
HP:0010864	Intellectual disability, severe	29081	METTL5	OMIM:618665
HP:0010864	Intellectual disability, severe	29081	METTL5	ORPHA:2512
HP:0010864	Intellectual disability, severe	10717	AP4B1	OMIM:614066
HP:0010864	Intellectual disability, severe	10717	AP4B1	ORPHA:280763
HP:0010864	Intellectual disability, severe	84879	MFSD2A	OMIM:616486
HP:0010864	Intellectual disability, severe	84879	MFSD2A	ORPHA:2512
HP:0010864	Intellectual disability, severe	11154	AP4S1	OMIM:614067
HP:0010864	Intellectual disability, severe	11154	AP4S1	ORPHA:280763
HP:0010864	Intellectual disability, severe	55773	TBC1D23	OMIM:617695
HP:0010864	Intellectual disability, severe	51633	OTUD6B	OMIM:617452
HP:0010864	Intellectual disability, severe	51633	OTUD6B	ORPHA:505237
HP:0010864	Intellectual disability, severe	27089	UQCRQ	OMIM:615159
HP:0010864	Intellectual disability, severe	9354	UBE4A	OMIM:619639
HP:0010864	Intellectual disability, severe	92609	TIMM50	OMIM:617698
HP:0010864	Intellectual disability, severe	92609	TIMM50	ORPHA:505216
HP:0010864	Intellectual disability, severe	6134	RPL10	ORPHA:459070
HP:0010864	Intellectual disability, severe	6638	SNRPN	OMIM:105830
HP:0010864	Intellectual disability, severe	6638	SNRPN	ORPHA:177907
HP:0010864	Intellectual disability, severe	7337	UBE3A	OMIM:105830
HP:0010864	Intellectual disability, severe	7337	UBE3A	ORPHA:98794
HP:0010864	Intellectual disability, severe	2517	FUCA1	ORPHA:349
HP:0010864	Intellectual disability, severe	9289	ADGRG1	ORPHA:101070
HP:0010864	Intellectual disability, severe	5728	PTEN	ORPHA:101070
HP:0010864	Intellectual disability, severe	54828	BCAS3	OMIM:619641
HP:0010864	Intellectual disability, severe	3800	KIF5C	OMIM:615282
HP:0010864	Intellectual disability, severe	27086	FOXP1	ORPHA:391372
HP:0010864	Intellectual disability, severe	6506	SLC1A2	OMIM:617105
HP:0010864	Intellectual disability, severe	10297	APC2	OMIM:618677
HP:0010864	Intellectual disability, severe	10297	APC2	ORPHA:821
HP:0010864	Intellectual disability, severe	2558	GABRA5	OMIM:618559
HP:0010864	Intellectual disability, severe	79633	FAT4	ORPHA:314679
HP:0010864	Intellectual disability, severe	8642	DCHS1	ORPHA:314679
HP:0010864	Intellectual disability, severe	6925	TCF4	OMIM:610954
HP:0010864	Intellectual disability, severe	2258	FGF13	OMIM:301095
HP:0010864	Intellectual disability, severe	38	ACAT1	ORPHA:134
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:576283
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:251028
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:251019
HP:0010864	Intellectual disability, severe	4208	MEF2C	ORPHA:228384
HP:0010864	Intellectual disability, severe	4208	MEF2C	OMIM:613443
HP:0010864	Intellectual disability, severe	7030	TFE3	OMIM:301066
HP:0010864	Intellectual disability, severe	197258	FCSK	OMIM:618324
HP:0010864	Intellectual disability, severe	9922	IQSEC1	OMIM:618687
HP:0010864	Intellectual disability, severe	85365	ALG2	OMIM:607906
HP:0010864	Intellectual disability, severe	111	ADCY5	OMIM:619651
HP:0010864	Intellectual disability, severe	388662	SLC6A17	OMIM:616269
HP:0010864	Intellectual disability, severe	388662	SLC6A17	ORPHA:457212
HP:0010864	Intellectual disability, severe	23499	MACF1	OMIM:618325
HP:0010864	Intellectual disability, severe	23499	MACF1	ORPHA:572013
HP:0010864	Intellectual disability, severe	284111	SLC13A5	ORPHA:1946
HP:0010864	Intellectual disability, severe	79641	ROGDI	ORPHA:1946
HP:0010864	Intellectual disability, severe	79641	ROGDI	OMIM:226750
HP:0010864	Intellectual disability, severe	9526	MPDU1	ORPHA:79323
HP:0010864	Intellectual disability, severe	3756	KCNH1	OMIM:611816
HP:0010864	Intellectual disability, severe	3756	KCNH1	OMIM:135500
HP:0010864	Intellectual disability, severe	3756	KCNH1	ORPHA:420561
HP:0010864	Intellectual disability, severe	6595	SMARCA2	OMIM:601358
HP:0010864	Intellectual disability, severe	26100	WIPI2	OMIM:618453
HP:0010864	Intellectual disability, severe	51645	PPIL1	OMIM:619301
HP:0010864	Intellectual disability, severe	1917	EEF1A2	OMIM:616393
HP:0010864	Intellectual disability, severe	51362	CDC40	OMIM:619302
HP:0010864	Intellectual disability, severe	5881	RAC3	OMIM:618577
HP:0010864	Intellectual disability, severe	5111	PCNA	ORPHA:438134
HP:0010864	Intellectual disability, severe	3763	KCNJ6	OMIM:614098
HP:0010864	Intellectual disability, severe	22930	RAB3GAP1	OMIM:619420
HP:0010864	Intellectual disability, severe	22930	RAB3GAP1	ORPHA:2510
HP:0010864	Intellectual disability, severe	58497	PRUNE1	ORPHA:544469
HP:0010864	Intellectual disability, severe	81603	TRIM8	OMIM:619428
HP:0010864	Intellectual disability, severe	3242	HPD	OMIM:276710
HP:0010864	Intellectual disability, severe	8905	AP1S2	OMIM:304340
HP:0010864	Intellectual disability, severe	2902	GRIN1	ORPHA:208447
HP:0010864	Intellectual disability, severe	2902	GRIN1	OMIM:617820
HP:0010864	Intellectual disability, severe	2902	GRIN1	OMIM:614254
HP:0010864	Intellectual disability, severe	5813	PURA	ORPHA:314655
HP:0010864	Intellectual disability, severe	54808	DYM	ORPHA:239
HP:0010864	Intellectual disability, severe	79944	L2HGDH	ORPHA:79314
HP:0010864	Intellectual disability, severe	11160	ERLIN2	ORPHA:280384
HP:0010864	Intellectual disability, severe	57526	PCDH19	ORPHA:101039
HP:0010864	Intellectual disability, severe	3155	HMGCL	ORPHA:20
HP:0010864	Intellectual disability, severe	51574	LARP7	OMIM:615071
HP:0010864	Intellectual disability, severe	51574	LARP7	ORPHA:319671
HP:0010864	Intellectual disability, severe	57459	GATAD2B	OMIM:615074
HP:0010864	Intellectual disability, severe	57459	GATAD2B	ORPHA:363686
HP:0010864	Intellectual disability, severe	79876	UBA5	OMIM:617132
HP:0010864	Intellectual disability, severe	10466	COG5	ORPHA:263487
HP:0010864	Intellectual disability, severe	84894	LINGO1	OMIM:618103
HP:0010864	Intellectual disability, severe	2775	GNAO1	OMIM:617493
HP:0010864	Intellectual disability, severe	56896	DPYSL5	OMIM:619435
HP:0010864	Intellectual disability, severe	10564	ARFGEF2	OMIM:608097
HP:0010864	Intellectual disability, severe	55628	ZNF407	OMIM:619557
HP:0010864	Intellectual disability, severe	2737	GLI3	ORPHA:36
HP:0010864	Intellectual disability, severe	374654	KIF7	ORPHA:36
HP:0010864	Intellectual disability, severe	374654	KIF7	OMIM:200990
HP:0010864	Intellectual disability, severe	128869	PIGU	OMIM:618590
HP:0010864	Intellectual disability, severe	51412	ACTL6B	OMIM:618470
HP:0010864	Intellectual disability, severe	2972	BRF1	ORPHA:444072
HP:0010864	Intellectual disability, severe	6567	SLC16A2	OMIM:300523
HP:0010864	Intellectual disability, severe	6567	SLC16A2	ORPHA:59
HP:0010864	Intellectual disability, severe	79868	ALG13	OMIM:300884
HP:0010864	Intellectual disability, severe	6651	SON	OMIM:617140
HP:0010864	Intellectual disability, severe	6651	SON	ORPHA:500150
HP:0010864	Intellectual disability, severe	8492	PRSS12	OMIM:249500
HP:0010864	Intellectual disability, severe	112939	NACC1	ORPHA:500545
HP:0010864	Intellectual disability, severe	1760	DMPK	OMIM:160900
HP:0010864	Intellectual disability, severe	7846	TUBA1A	OMIM:611603
HP:0010864	Intellectual disability, severe	3767	KCNJ11	ORPHA:99885
HP:0010864	Intellectual disability, severe	6774	STAT3	ORPHA:99885
HP:0010864	Intellectual disability, severe	2645	GCK	ORPHA:99885
HP:0010864	Intellectual disability, severe	3651	PDX1	ORPHA:99885
HP:0010864	Intellectual disability, severe	6833	ABCC8	ORPHA:99885
HP:0010864	Intellectual disability, severe	3630	INS	ORPHA:99885
HP:0010864	Intellectual disability, severe	9179	AP4M1	OMIM:612936
HP:0010864	Intellectual disability, severe	9179	AP4M1	ORPHA:280763
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:236670
HP:0010864	Intellectual disability, severe	29954	POMT2	ORPHA:370968
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:613150
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:613156
HP:0010864	Intellectual disability, severe	9215	LARGE1	OMIM:236670
HP:0010864	Intellectual disability, severe	9215	LARGE1	ORPHA:370968
HP:0010864	Intellectual disability, severe	79147	FKRP	OMIM:236670
HP:0010864	Intellectual disability, severe	79147	FKRP	ORPHA:370968
HP:0010864	Intellectual disability, severe	10585	POMT1	OMIM:236670
HP:0010864	Intellectual disability, severe	10585	POMT1	ORPHA:370968
HP:0010864	Intellectual disability, severe	10585	POMT1	OMIM:613155
HP:0010864	Intellectual disability, severe	387119	CEP85L	ORPHA:572013
HP:0010864	Intellectual disability, severe	10166	SLC25A15	OMIM:238970
HP:0010864	Intellectual disability, severe	29925	GMPPB	ORPHA:370968
HP:0010864	Intellectual disability, severe	4948	OCA2	ORPHA:98794
HP:0010864	Intellectual disability, severe	79709	COLGALT1	OMIM:618360
HP:0010864	Intellectual disability, severe	55777	MBD5	OMIM:156200
HP:0010864	Intellectual disability, severe	55777	MBD5	ORPHA:228402
HP:0010864	Intellectual disability, severe	8925	HERC1	ORPHA:457359
HP:0010864	Intellectual disability, severe	2664	GDI1	OMIM:300849
HP:0010864	Intellectual disability, severe	23229	ARHGEF9	OMIM:300607
HP:0010864	Intellectual disability, severe	6491	STIL	OMIM:612703
HP:0010864	Intellectual disability, severe	6491	STIL	ORPHA:2512
HP:0010864	Intellectual disability, severe	6821	SUOX	OMIM:272300
HP:0010864	Intellectual disability, severe	6045	RNF2	OMIM:619460
HP:0010864	Intellectual disability, severe	1781	DYNC1I2	OMIM:618492
HP:0010864	Intellectual disability, severe	10524	KAT5	OMIM:619103
HP:0010864	Intellectual disability, severe	2009	EML1	OMIM:600348
HP:0010864	Intellectual disability, severe	23522	KAT6B	OMIM:603736
HP:0010864	Intellectual disability, severe	6304	SATB1	OMIM:619229
HP:0010864	Intellectual disability, severe	57187	THOC2	ORPHA:457240
HP:0010864	Intellectual disability, severe	79644	SRD5A3	OMIM:612713
HP:0010864	Intellectual disability, severe	80185	TTI2	ORPHA:391307
HP:0010864	Intellectual disability, severe	80185	TTI2	OMIM:615541
HP:0010864	Intellectual disability, severe	3028	HSD17B10	ORPHA:391428
HP:0010864	Intellectual disability, severe	83480	PUS3	OMIM:617051
HP:0010864	Intellectual disability, severe	5281	PIGF	OMIM:619356
HP:0010864	Intellectual disability, severe	2290	FOXG1	ORPHA:261144
HP:0010864	Intellectual disability, severe	2290	FOXG1	OMIM:613454
HP:0010864	Intellectual disability, severe	8812	CCNK	OMIM:618147
HP:0010864	Intellectual disability, severe	2892	GRIA3	ORPHA:364028
HP:0010864	Intellectual disability, severe	2892	GRIA3	OMIM:300699
HP:0010864	Intellectual disability, severe	51604	PIGT	ORPHA:369837
HP:0010864	Intellectual disability, severe	8452	CUL3	OMIM:619239
HP:0010864	Intellectual disability, severe	4983	OPHN1	ORPHA:137831
HP:0010864	Intellectual disability, severe	1528	CYB5A	ORPHA:621
HP:0010864	Intellectual disability, severe	1727	CYB5R3	ORPHA:621
HP:0010864	Intellectual disability, severe	5058	PAK1	OMIM:618158
HP:0010864	Intellectual disability, severe	57477	SHROOM4	ORPHA:85288
HP:0010864	Intellectual disability, severe	6472	SHMT2	OMIM:619121
HP:0010864	Intellectual disability, severe	197	AHSG	OMIM:203650
HP:0010864	Intellectual disability, severe	8450	CUL4B	ORPHA:85293
HP:0010864	Intellectual disability, severe	55717	WDR11	OMIM:620237
HP:0010864	Intellectual disability, severe	10681	GNB5	ORPHA:542306
HP:0010864	Intellectual disability, severe	93587	TRMT10A	ORPHA:391408
HP:0010864	Intellectual disability, severe	84919	PPP1R15B	ORPHA:391408
HP:0010864	Intellectual disability, severe	84919	PPP1R15B	OMIM:616817
HP:0010864	Intellectual disability, severe	5264	PHYH	ORPHA:773
HP:0010864	Intellectual disability, severe	5191	PEX7	ORPHA:773
HP:0010864	Intellectual disability, severe	84295	PHF6	OMIM:301900
HP:0010864	Intellectual disability, severe	5528	PPP2R5D	ORPHA:457279
HP:0010864	Intellectual disability, severe	8242	KDM5C	ORPHA:85279
HP:0010864	Intellectual disability, severe	8242	KDM5C	OMIM:300534
HP:0010864	Intellectual disability, severe	1315	COPB1	OMIM:619255
HP:0010864	Intellectual disability, severe	51360	MBTPS2	ORPHA:85284
HP:0010864	Intellectual disability, severe	4668	NAGA	OMIM:609241
HP:0010864	Intellectual disability, severe	4668	NAGA	ORPHA:79279
HP:0010864	Intellectual disability, severe	54187	NANS	OMIM:610442
HP:0010864	Intellectual disability, severe	1968	EIF2S3	ORPHA:85282
HP:0010864	Intellectual disability, severe	81615	TMEM163	OMIM:620243
HP:0010864	Intellectual disability, severe	4508	MT-ATP6	ORPHA:644
HP:0010864	Intellectual disability, severe	10079	ATP9A	OMIM:620242
HP:0010864	Intellectual disability, severe	3897	L1CAM	ORPHA:2182
HP:0010864	Intellectual disability, severe	1496	CTNNA2	OMIM:618174
HP:0010864	Intellectual disability, severe	6326	SCN2A	OMIM:613721
HP:0010864	Intellectual disability, severe	23443	SLC35A3	ORPHA:370943
HP:0010864	Intellectual disability, severe	199857	ALG14	OMIM:619031
HP:0010864	Intellectual disability, severe	27183	VPS4A	OMIM:619273
HP:0010864	Intellectual disability, severe	10134	BCAP31	OMIM:300475
HP:0010864	Intellectual disability, severe	7355	SLC35A2	ORPHA:356961
HP:0010864	Intellectual disability, severe	7109	TRAPPC10	OMIM:620027
HP:0010864	Intellectual disability, severe	7109	TRAPPC10	ORPHA:2512
HP:0010864	Intellectual disability, severe	55624	POMGNT1	OMIM:253280
HP:0010864	Intellectual disability, severe	10274	STAG1	ORPHA:502434
HP:0010864	Intellectual disability, severe	51343	FZR1	OMIM:620145
HP:0010864	Intellectual disability, severe	9839	ZEB2	OMIM:235730
HP:0010864	Intellectual disability, severe	4758	NEU1	ORPHA:93399
HP:0010864	Intellectual disability, severe	23126	POGZ	ORPHA:468678
HP:0010864	Intellectual disability, severe	64324	NSD1	ORPHA:821
HP:0010864	Intellectual disability, severe	29072	SETD2	ORPHA:821
HP:0010864	Intellectual disability, severe	4784	NFIX	ORPHA:447980
HP:0010864	Intellectual disability, severe	4784	NFIX	ORPHA:420179
HP:0010864	Intellectual disability, severe	10479	SLC9A6	OMIM:300243
HP:0010864	Intellectual disability, severe	170302	ARX	OMIM:300004
HP:0010864	Intellectual disability, severe	170302	ARX	OMIM:300419
HP:0010864	Intellectual disability, severe	170302	ARX	ORPHA:2508
HP:0010864	Intellectual disability, severe	89910	UBE3B	OMIM:244450
HP:0010864	Intellectual disability, severe	4010	LMX1B	ORPHA:495818
HP:0010864	Intellectual disability, severe	6812	STXBP1	ORPHA:495818
HP:0010864	Intellectual disability, severe	6812	STXBP1	OMIM:612164
HP:0010864	Intellectual disability, severe	80055	PGAP1	OMIM:615802
HP:0010864	Intellectual disability, severe	56623	INPP5E	ORPHA:75858
HP:0010864	Intellectual disability, severe	5689	PSMB1	OMIM:620038
HP:0010864	Intellectual disability, severe	23431	AP4E1	OMIM:613744
HP:0010864	Intellectual disability, severe	23431	AP4E1	ORPHA:280763
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	OMIM:212720
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	OMIM:614225
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	ORPHA:2510
HP:0010864	Intellectual disability, severe	5290	PIK3CA	ORPHA:99802
HP:0010864	Intellectual disability, severe	2475	MTOR	ORPHA:99802
HP:0010864	Intellectual disability, severe	10000	AKT3	ORPHA:99802
HP:0010864	Intellectual disability, severe	84992	PIGY	ORPHA:247262
HP:0010864	Intellectual disability, severe	84720	PIGO	ORPHA:247262
HP:0010864	Intellectual disability, severe	93210	PGAP3	ORPHA:247262
HP:0010864	Intellectual disability, severe	284098	PIGW	ORPHA:247262
HP:0010864	Intellectual disability, severe	27315	PGAP2	ORPHA:247262
HP:0010864	Intellectual disability, severe	27315	PGAP2	OMIM:614207
HP:0010864	Intellectual disability, severe	9487	PIGL	ORPHA:247262
HP:0010864	Intellectual disability, severe	1509	CTSD	OMIM:610127
HP:0010864	Intellectual disability, severe	894	CCND2	OMIM:615938
HP:0010864	Intellectual disability, severe	10716	TBR1	OMIM:606053
HP:0010864	Intellectual disability, severe	8802	SUCLG1	OMIM:245400
HP:0010864	Intellectual disability, severe	815	CAMK2A	OMIM:618095
HP:0010864	Intellectual disability, severe	776	CACNA1D	ORPHA:369929
HP:0010864	Intellectual disability, severe	51199	NIN	OMIM:614851
HP:0010864	Intellectual disability, severe	51199	NIN	ORPHA:319675
HP:0010864	Intellectual disability, severe	79813	EHMT1	OMIM:610253
HP:0010864	Intellectual disability, severe	11284	PNKP	OMIM:613402
HP:0010864	Intellectual disability, severe	25942	SIN3A	OMIM:613406
HP:0010864	Intellectual disability, severe	26005	C2CD3	OMIM:615948
HP:0010864	Intellectual disability, severe	53834	FGFRL1	OMIM:194190
HP:0010864	Intellectual disability, severe	54496	PRMT7	ORPHA:464288
HP:0010864	Intellectual disability, severe	383	ARG1	ORPHA:90
HP:0010864	Intellectual disability, severe	3192	HNRNPU	ORPHA:238769
HP:0010864	Intellectual disability, severe	1798	DPAGT1	ORPHA:86309
HP:0010864	Intellectual disability, severe	10841	FTCD	ORPHA:51208
HP:0010864	Intellectual disability, severe	5063	PAK3	OMIM:300558
HP:0010864	Intellectual disability, severe	55343	SLC35C1	OMIM:266265
HP:0010864	Intellectual disability, severe	55343	SLC35C1	ORPHA:99843
HP:0010864	Intellectual disability, severe	5700	PSMC1	OMIM:620071
HP:0010864	Intellectual disability, severe	79228	THOC6	ORPHA:363444
HP:0010864	Intellectual disability, severe	6558	SLC12A2	OMIM:619080
HP:0010864	Intellectual disability, severe	8481	OFD1	OMIM:300209
HP:0010864	Intellectual disability, severe	9568	GABBR2	OMIM:617903
HP:0010864	Intellectual disability, severe	10472	ZBTB18	OMIM:612337
HP:0010864	Intellectual disability, severe	54862	CC2D1A	OMIM:608443
HP:0010864	Intellectual disability, severe	3187	HNRNPH1	OMIM:620083
HP:0010864	Intellectual disability, severe	9342	SNAP29	OMIM:609528
HP:0010864	Intellectual disability, severe	55084	SOBP	OMIM:613671
HP:0010864	Intellectual disability, severe	546	ATRX	OMIM:309580
HP:0010864	Intellectual disability, severe	9928	KIF14	OMIM:617914
HP:0010864	Intellectual disability, severe	9928	KIF14	ORPHA:2512
HP:0010864	Intellectual disability, severe	5048	PAFAH1B1	ORPHA:95232
HP:0010864	Intellectual disability, severe	7319	UBE2A	ORPHA:163956
HP:0010864	Intellectual disability, severe	5830	PEX5	OMIM:616716
HP:0010864	Intellectual disability, severe	80816	ASXL3	ORPHA:352577
HP:0010864	Intellectual disability, severe	6323	SCN1A	OMIM:607208
HP:0010864	Intellectual disability, severe	51621	KLF13	OMIM:612001
HP:0010864	Intellectual disability, severe	1139	CHRNA7	OMIM:612001
HP:0010864	Intellectual disability, severe	471	ATIC	ORPHA:250977
HP:0010864	Intellectual disability, severe	124997	WDR81	OMIM:610185
HP:0010864	Intellectual disability, severe	65062	TMEM237	OMIM:614424
HP:0010864	Intellectual disability, severe	8050	PDHX	ORPHA:255182
HP:0010864	Intellectual disability, severe	9662	CEP135	OMIM:614673
HP:0010864	Intellectual disability, severe	9662	CEP135	ORPHA:2512
HP:0010864	Intellectual disability, severe	6334	SCN8A	OMIM:614558
HP:0010864	Intellectual disability, severe	91869	RFT1	OMIM:612015
HP:0010864	Intellectual disability, severe	50	ACO2	OMIM:614559
HP:0010864	Intellectual disability, severe	3176	HNMT	OMIM:616739
HP:0010864	Intellectual disability, severe	5053	PAH	ORPHA:79254
HP:0010864	Intellectual disability, severe	54820	NDE1	OMIM:605013
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95720
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95713
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95712
HP:0010864	Intellectual disability, severe	7253	TSHR	ORPHA:95720
HP:0010864	Intellectual disability, severe	7253	TSHR	ORPHA:95713
HP:0010864	Intellectual disability, severe	5172	SLC26A4	ORPHA:95720
HP:0010864	Intellectual disability, severe	5172	SLC26A4	ORPHA:95713
HP:0010864	Intellectual disability, severe	23732	FRRS1L	OMIM:616981
HP:0010864	Intellectual disability, severe	63035	BCORL1	OMIM:301029
HP:0010864	Intellectual disability, severe	8831	SYNGAP1	ORPHA:544254
HP:0010864	Intellectual disability, severe	6597	SMARCA4	ORPHA:1465
HP:0010864	Intellectual disability, severe	6598	SMARCB1	ORPHA:1465
HP:0010864	Intellectual disability, severe	6659	SOX4	ORPHA:1465
HP:0010864	Intellectual disability, severe	8289	ARID1A	ORPHA:1465
HP:0010864	Intellectual disability, severe	5977	DPF2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6601	SMARCC2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6602	SMARCD1	ORPHA:1465
HP:0010864	Intellectual disability, severe	57492	ARID1B	ORPHA:1465
HP:0010864	Intellectual disability, severe	196528	ARID2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6605	SMARCE1	ORPHA:1465
HP:0010864	Intellectual disability, severe	6664	SOX11	ORPHA:1465
HP:0010864	Intellectual disability, severe	6709	SPTAN1	OMIM:613477
HP:0010864	Intellectual disability, severe	7080	NKX2-1	ORPHA:95713
HP:0010864	Intellectual disability, severe	2304	FOXE1	ORPHA:95713
HP:0010864	Intellectual disability, severe	4915	NTRK2	OMIM:617830
HP:0010864	Intellectual disability, severe	9378	NRXN1	OMIM:614325
HP:0010864	Intellectual disability, severe	1737	DLAT	ORPHA:79244
HP:0010864	Intellectual disability, severe	64093	SMOC1	ORPHA:1106
HP:0010864	Intellectual disability, severe	51185	CRBN	OMIM:607417
HP:0010864	Intellectual disability, severe	83696	TRAPPC9	ORPHA:352530
HP:0010864	Intellectual disability, severe	128637	TBC1D20	OMIM:615663
HP:0010864	Intellectual disability, severe	128637	TBC1D20	ORPHA:2510
HP:0010864	Intellectual disability, severe	55969	RAB5IF	OMIM:616994
HP:0010864	Intellectual disability, severe	760	CA2	ORPHA:2785
HP:0010864	Intellectual disability, severe	23476	BRD4	ORPHA:199
HP:0010864	Intellectual disability, severe	9126	SMC3	ORPHA:199
HP:0010864	Intellectual disability, severe	8243	SMC1A	ORPHA:199
HP:0010864	Intellectual disability, severe	25836	NIPBL	ORPHA:199
HP:0010864	Intellectual disability, severe	55869	HDAC8	ORPHA:199
HP:0010864	Intellectual disability, severe	5885	RAD21	ORPHA:199
HP:0010864	Intellectual disability, severe	81562	LMAN2L	OMIM:616887
HP:0010864	Intellectual disability, severe	3747	KCNC2	OMIM:619913
HP:0010864	Intellectual disability, severe	163786	SASS6	OMIM:616402
HP:0010864	Intellectual disability, severe	163786	SASS6	ORPHA:2512
HP:0010864	Intellectual disability, severe	1859	DYRK1A	OMIM:614104
HP:0010864	Intellectual disability, severe	1861	TOR1A	OMIM:618947
HP:0010864	Intellectual disability, severe	64857	PLEKHG2	OMIM:616763
HP:0010864	Intellectual disability, severe	9894	TELO2	ORPHA:488642
HP:0010864	Intellectual disability, severe	259232	NALCN	ORPHA:371364
HP:0010864	Intellectual disability, severe	285175	UNC80	ORPHA:371364
HP:0010864	Intellectual disability, severe	25914	RTTN	ORPHA:468631
HP:0010864	Intellectual disability, severe	8936	WASF1	OMIM:618707
HP:0010864	Intellectual disability, severe	26047	CNTNAP2	ORPHA:163681
HP:0010864	Intellectual disability, severe	7343	UBTF	ORPHA:500180
HP:0010864	Intellectual disability, severe	23630	KCNE5	ORPHA:86818
HP:0010864	Intellectual disability, severe	2182	ACSL4	ORPHA:86818
HP:0010864	Intellectual disability, severe	9949	AMMECR1	ORPHA:86818
HP:0010864	Intellectual disability, severe	122553	TRAPPC6B	OMIM:617862
HP:0010864	Intellectual disability, severe	55691	FRMD4A	ORPHA:466688
HP:0010864	Intellectual disability, severe	6389	SDHA	ORPHA:255241
HP:0010864	Intellectual disability, severe	80704	SLC19A3	ORPHA:255241
HP:0010864	Intellectual disability, severe	91942	NDUFAF2	ORPHA:255241
HP:0010864	Intellectual disability, severe	6834	SURF1	ORPHA:255241
HP:0010864	Intellectual disability, severe	4723	NDUFV1	ORPHA:255241
HP:0010864	Intellectual disability, severe	55572	FOXRED1	ORPHA:255241
HP:0010864	Intellectual disability, severe	4729	NDUFV2	ORPHA:255241
HP:0010864	Intellectual disability, severe	55967	NDUFA12	ORPHA:255241
HP:0010864	Intellectual disability, severe	51204	TACO1	ORPHA:255241
HP:0010864	Intellectual disability, severe	4720	NDUFS2	ORPHA:255241
HP:0010864	Intellectual disability, severe	4724	NDUFS4	ORPHA:255241
HP:0010864	Intellectual disability, severe	4728	NDUFS8	ORPHA:255241
HP:0010864	Intellectual disability, severe	137682	NDUFAF6	ORPHA:255241
HP:0010864	Intellectual disability, severe	4722	NDUFS3	ORPHA:255241
HP:0010864	Intellectual disability, severe	79133	NDUFAF5	ORPHA:255241
HP:0010864	Intellectual disability, severe	5160	PDHA1	ORPHA:255241
HP:0010864	Intellectual disability, severe	100131801	PET100	ORPHA:255241
HP:0010864	Intellectual disability, severe	1355	COX15	ORPHA:255241
HP:0010864	Intellectual disability, severe	1892	ECHS1	ORPHA:255241
HP:0010864	Intellectual disability, severe	123263	MTFMT	ORPHA:255241
HP:0010864	Intellectual disability, severe	51079	NDUFA13	ORPHA:255241
HP:0010864	Intellectual disability, severe	374291	NDUFS7	ORPHA:255241
HP:0010864	Intellectual disability, severe	4705	NDUFA10	ORPHA:255241
HP:0010864	Intellectual disability, severe	51601	LIPT1	ORPHA:255241
HP:0010864	Intellectual disability, severe	4719	NDUFS1	ORPHA:255241
HP:0010864	Intellectual disability, severe	4695	NDUFA2	ORPHA:255241
HP:0010864	Intellectual disability, severe	4697	NDUFA4	ORPHA:255241
HP:0010864	Intellectual disability, severe	4704	NDUFA9	ORPHA:255241
HP:0010864	Intellectual disability, severe	7991	TUSC3	OMIM:611093
HP:0010864	Intellectual disability, severe	2806	GOT2	OMIM:618721
HP:0010864	Intellectual disability, severe	2890	GRIA1	OMIM:619931
HP:0010864	Intellectual disability, severe	9757	KMT2B	OMIM:619934
HP:0010864	Intellectual disability, severe	57731	SPTBN4	OMIM:617519
HP:0010864	Intellectual disability, severe	79583	TMEM231	ORPHA:2752
HP:0010864	Intellectual disability, severe	22931	RAB18	ORPHA:2510
HP:0010864	Intellectual disability, severe	9276	COPB2	ORPHA:2512
HP:0010864	Intellectual disability, severe	11113	CIT	ORPHA:2512
HP:0010864	Intellectual disability, severe	22995	CEP152	ORPHA:2512
HP:0010864	Intellectual disability, severe	55262	TRAPPC14	ORPHA:2512
HP:0010864	Intellectual disability, severe	29920	PYCR2	ORPHA:2512
HP:0010864	Intellectual disability, severe	4176	MCM7	ORPHA:2512
HP:0010864	Intellectual disability, severe	80254	CEP63	ORPHA:2512
HP:0010864	Intellectual disability, severe	23310	NCAPD3	ORPHA:2512
HP:0010864	Intellectual disability, severe	55755	CDK5RAP2	ORPHA:2512
HP:0010864	Intellectual disability, severe	79648	MCPH1	ORPHA:2512
HP:0010864	Intellectual disability, severe	23141	ANKLE2	ORPHA:2512
HP:0010864	Intellectual disability, severe	259266	ASPM	ORPHA:2512
HP:0010864	Intellectual disability, severe	1911	PHC1	ORPHA:2512
HP:0010864	Intellectual disability, severe	6884	TAF13	ORPHA:2512
HP:0010864	Intellectual disability, severe	55835	CENPJ	ORPHA:2512
HP:0010864	Intellectual disability, severe	57082	KNL1	ORPHA:2512
HP:0010864	Intellectual disability, severe	1021	CDK6	ORPHA:2512
HP:0010864	Intellectual disability, severe	51075	TMX2	OMIM:618730
HP:0010864	Intellectual disability, severe	55331	ACER3	OMIM:617762
HP:0010864	Intellectual disability, severe	2036	EPB41L1	OMIM:614257
HP:0010864	Intellectual disability, severe	7252	TSHB	OMIM:275100
HP:0007199	Progressive spastic paraparesis	126129	CPT1C	ORPHA:444099
HP:0007199	Progressive spastic paraparesis	85465	SELENOI	ORPHA:506353
HP:0007199	Progressive spastic paraparesis	6687	SPG7	ORPHA:35689
HP:0007199	Progressive spastic paraparesis	2581	GALC	ORPHA:206448
HP:0007199	Progressive spastic paraparesis	79152	FA2H	ORPHA:329308
HP:0007199	Progressive spastic paraparesis	215	ABCD1	ORPHA:139399
HP:0007199	Progressive spastic paraparesis	6905	TBCE	ORPHA:496756
HP:0033050	Pharyngalgia	91662	NLRP12	OMIM:611762
HP:0033050	Pharyngalgia	1380	CR2	OMIM:614699
HP:0033051	Impaired executive functioning	84188	FAR1	OMIM:619338
HP:0033051	Impaired executive functioning	54840	APTX	OMIM:208920
HP:0033051	Impaired executive functioning	55187	VPS13D	OMIM:607317
HP:0033051	Impaired executive functioning	1436	CSF1R	OMIM:221820
HP:0033051	Impaired executive functioning	4884	NPTX1	OMIM:620158
HP:0033051	Impaired executive functioning	1540	CYLD	OMIM:619132
HP:0033051	Impaired executive functioning	5155	PDGFB	OMIM:615483
HP:0033052	Psychogenic non-epileptic seizure	25942	SIN3A	OMIM:613406
HP:0033054	Myoclonic tremor	27327	TNRC6A	OMIM:618074
HP:0033054	Myoclonic tremor	9693	RAPGEF2	OMIM:618075
HP:0033057	Decreased circulating terminal complement component concentration	732	C8B	OMIM:613789
HP:0033057	Decreased circulating terminal complement component concentration	731	C8A	OMIM:613790
HP:0033057	Decreased circulating terminal complement component concentration	735	C9	OMIM:613825
HP:0033057	Decreased circulating terminal complement component concentration	730	C7	OMIM:610102
HP:0033057	Decreased circulating terminal complement component concentration	729	C6	OMIM:612446
HP:0033057	Decreased circulating terminal complement component concentration	727	C5	OMIM:609536
HP:0033058	Decreased circulating complement C7 concentration	730	C7	OMIM:610102
HP:0033059	Decreased circulating complement C6 concentration	729	C6	OMIM:612446
HP:0033060	Decreased circulating complement C5 concentration	727	C5	OMIM:609536
HP:0033061	Increased factor IX activity	2158	F9	OMIM:300807
HP:0033062	Abnormal factor IX activity	2677	GGCX	OMIM:277450
HP:0033062	Abnormal factor IX activity	2677	GGCX	OMIM:610842
HP:0033062	Abnormal factor IX activity	5373	PMM2	ORPHA:79318
HP:0033062	Abnormal factor IX activity	2542	SLC37A4	OMIM:619525
HP:0033062	Abnormal factor IX activity	4247	MGAT2	OMIM:212066
HP:0033062	Abnormal factor IX activity	79001	VKORC1	OMIM:607473
HP:0033062	Abnormal factor IX activity	2158	F9	OMIM:300807
HP:0033063	Shortened sleep cycle	153	ADRB1	OMIM:618591
HP:0033072	Abnormal macroscopic urine appearance	340024	SLC6A19	ORPHA:2116
HP:0033072	Abnormal macroscopic urine appearance	57393	CLTRN	ORPHA:2116
HP:0033072	Abnormal macroscopic urine appearance	1244	ABCC2	ORPHA:234
HP:0033072	Abnormal macroscopic urine appearance	7248	TSC1	ORPHA:538
HP:0033072	Abnormal macroscopic urine appearance	7249	TSC2	ORPHA:538
HP:0033072	Abnormal macroscopic urine appearance	1756	DMD	ORPHA:98895
HP:0033072	Abnormal macroscopic urine appearance	4868	NPHS1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23607	CD2AP	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	9688	NUP93	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	4643	MYO1E	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	64423	INF2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	26130	GAPVD1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7490	WT1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	57122	NUP107	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	51479	ANKFY1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	54443	ANLN	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	5800	PTPRO	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	286204	CRB2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23165	NUP205	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	2013	EMP2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79023	NUP37	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	51196	PLCE1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79902	NUP85	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	1285	COL4A3	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	396	ARHGDIA	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79934	COQ8B	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23279	NUP160	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	9863	MAGI2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	81	ACTN4	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7225	TRPC6	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	8542	APOL1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	54885	TBC1D8B	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7827	NPHS2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	83478	ARHGAP24	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23500	DAAM2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	5076	PAX2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	55746	NUP133	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	644	BLVRA	OMIM:614156
HP:0033072	Abnormal macroscopic urine appearance	286410	ATP11C	OMIM:301015
HP:0033072	Abnormal macroscopic urine appearance	5837	PYGM	OMIM:232600
HP:0033072	Abnormal macroscopic urine appearance	5837	PYGM	ORPHA:368
HP:0033072	Abnormal macroscopic urine appearance	1371	CPOX	ORPHA:79273
HP:0033072	Abnormal macroscopic urine appearance	23175	LPIN1	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	4512	MT-CO1	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	4514	MT-CO3	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	6775	STAT4	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	6696	SPP1	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	3654	IRAK1	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	3145	HMBS	ORPHA:79276
HP:0033072	Abnormal macroscopic urine appearance	79989	IFT56	OMIM:619534
HP:0033072	Abnormal macroscopic urine appearance	6718	AKR1D1	ORPHA:79303
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228302
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228305
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228308
HP:0033072	Abnormal macroscopic urine appearance	210	ALAD	ORPHA:100924
HP:0033072	Abnormal macroscopic urine appearance	7390	UROS	ORPHA:79277
HP:0033072	Abnormal macroscopic urine appearance	2623	GATA1	ORPHA:79277
HP:0033072	Abnormal macroscopic urine appearance	7389	UROD	ORPHA:95159
HP:0033074	Steroid-responsive anemia	2056	EPO	OMIM:617911
HP:0033074	Steroid-responsive anemia	6141	RPL18	OMIM:618310
HP:0033074	Steroid-responsive anemia	6231	RPS26	OMIM:613309
HP:0033074	Steroid-responsive anemia	11224	RPL35	OMIM:618312
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	8471	IRS4	OMIM:301035
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	6907	TBL1X	OMIM:301033
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	3547	IGSF1	OMIM:300888
HP:0033076	Abnormal circulating free T4 concentration	213	ALB	OMIM:615999
HP:0033076	Abnormal circulating free T4 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033076	Abnormal circulating free T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0033076	Abnormal circulating free T4 concentration	7068	THRB	OMIM:274300
HP:0033076	Abnormal circulating free T4 concentration	7068	THRB	OMIM:188570
HP:0033076	Abnormal circulating free T4 concentration	79048	SECISBP2	OMIM:609698
HP:0033076	Abnormal circulating free T4 concentration	8471	IRS4	OMIM:301035
HP:0033076	Abnormal circulating free T4 concentration	1482	NKX2-5	OMIM:225250
HP:0033076	Abnormal circulating free T4 concentration	1363	CPE	OMIM:619326
HP:0033076	Abnormal circulating free T4 concentration	5449	POU1F1	OMIM:613038
HP:0033076	Abnormal circulating free T4 concentration	6907	TBL1X	OMIM:301033
HP:0033076	Abnormal circulating free T4 concentration	8567	MADD	OMIM:619004
HP:0033077	Increased circulating free T4 concentration	213	ALB	OMIM:615999
HP:0033077	Increased circulating free T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0033077	Increased circulating free T4 concentration	7068	THRB	OMIM:274300
HP:0033077	Increased circulating free T4 concentration	7068	THRB	OMIM:188570
HP:0033077	Increased circulating free T4 concentration	79048	SECISBP2	OMIM:609698
HP:0033077	Increased circulating free T4 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033078	Decreased circulating free T4 concentration	8471	IRS4	OMIM:301035
HP:0033078	Decreased circulating free T4 concentration	1482	NKX2-5	OMIM:225250
HP:0033078	Decreased circulating free T4 concentration	1363	CPE	OMIM:619326
HP:0033078	Decreased circulating free T4 concentration	5449	POU1F1	OMIM:613038
HP:0033078	Decreased circulating free T4 concentration	6907	TBL1X	OMIM:301033
HP:0033078	Decreased circulating free T4 concentration	8567	MADD	OMIM:619004
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8471	IRS4	OMIM:301035
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2737	GLI3	ORPHA:672
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	84172	POLR1B	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	9533	POLR1C	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	51082	POLR1D	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	6949	TCOF1	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7849	PAX8	OMIM:218700
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7849	PAX8	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5626	PROP1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	89884	LHX4	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8022	LHX3	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5449	POU1F1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8820	HESX1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	50814	NSDHL	OMIM:308050
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	92949	ADAMTSL1	ORPHA:521445
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	50506	DUOX2	ORPHA:226316
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	1482	NKX2-5	OMIM:225250
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2783	GNB2	OMIM:619503
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	OMIM:275200
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	ORPHA:90673
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	23522	KAT6B	ORPHA:3047
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8085	KMT2D	OMIM:620186
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7201	TRHR	ORPHA:99832
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5172	SLC26A4	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7252	TSHB	ORPHA:90674
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	ORPHA:95713
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	OMIM:241850
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	ORPHA:1226
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7080	NKX2-1	ORPHA:209905
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	1363	CPE	OMIM:619326
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	5449	POU1F1	OMIM:613038
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	3547	IGSF1	OMIM:300888
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	7201	TRHR	OMIM:618573
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	1363	CPE	OMIM:619326
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	5449	POU1F1	OMIM:613038
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	3547	IGSF1	OMIM:300888
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	7201	TRHR	OMIM:618573
HP:0033083	Increased circulating farnesol concentration	2222	FDFT1	OMIM:618156
HP:0033084	Abnormal antral follicle count	646	BNC1	OMIM:618723
HP:0033084	Abnormal antral follicle count	135935	NOBOX	OMIM:611548
HP:0033085	Reduced antral follicle count	646	BNC1	OMIM:618723
HP:0033085	Reduced antral follicle count	135935	NOBOX	OMIM:611548
HP:0033087	Quotidian fever	144811	LACC1	OMIM:618795
HP:0033090	Increased aromatic amino acid level in urine	6999	TDO2	OMIM:600627
HP:0033092	Increased urine succinate level	2271	FH	OMIM:606812
HP:0033092	Increased urine succinate level	6341	SCO1	OMIM:619048
HP:0033092	Increased urine succinate level	6576	SLC25A1	OMIM:615182
HP:0033092	Increased urine succinate level	64849	SLC13A3	OMIM:618384
HP:0033093	Increased glutamine family amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033093	Increased glutamine family amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033093	Increased glutamine family amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033093	Increased glutamine family amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033093	Increased glutamine family amino acid level in urine	51601	LIPT1	OMIM:616299
HP:0033095	Increased sulfur amino acid level in urine	444	ASPH	OMIM:601552
HP:0033095	Increased sulfur amino acid level in urine	4552	MTRR	OMIM:236270
HP:0033095	Increased sulfur amino acid level in urine	4524	MTHFR	OMIM:236250
HP:0033095	Increased sulfur amino acid level in urine	4524	MTHFR	ORPHA:395
HP:0033095	Increased sulfur amino acid level in urine	55788	LMBRD1	OMIM:277380
HP:0033095	Increased sulfur amino acid level in urine	3054	HCFC1	OMIM:309541
HP:0033095	Increased sulfur amino acid level in urine	875	CBS	OMIM:236200
HP:0033095	Increased sulfur amino acid level in urine	5826	ABCD4	OMIM:614857
HP:0033095	Increased sulfur amino acid level in urine	4548	MTR	OMIM:250940
HP:0033095	Increased sulfur amino acid level in urine	27249	MMADHC	OMIM:277410
HP:0033095	Increased sulfur amino acid level in urine	25974	MMACHC	OMIM:277400
HP:0033095	Increased sulfur amino acid level in urine	5052	PRDX1	OMIM:277400
HP:0033095	Increased sulfur amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033095	Increased sulfur amino acid level in urine	10157	AASS	ORPHA:3124
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	OMIM:616224
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	ORPHA:163690
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	ORPHA:163690
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	5495	PPM1B	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	79823	CAMKMT	ORPHA:163693
HP:0033096	Increased aspartate family amino acid level in urine	3000	GUCY2D	OMIM:204000
HP:0033096	Increased aspartate family amino acid level in urine	9056	SLC7A7	OMIM:222700
HP:0033096	Increased aspartate family amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033096	Increased aspartate family amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033096	Increased aspartate family amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033096	Increased aspartate family amino acid level in urine	133686	NADK2	OMIM:616034
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	OMIM:238700
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	ORPHA:3124
HP:0033096	Increased aspartate family amino acid level in urine	6505	SLC1A1	OMIM:222730
HP:0033097	Increased urine proteinogenic amino acid derivative level	10243	GPHN	OMIM:615501
HP:0033097	Increased urine proteinogenic amino acid derivative level	4337	MOCS1	OMIM:252150
HP:0033097	Increased urine proteinogenic amino acid derivative level	4338	MOCS2	OMIM:252160
HP:0033097	Increased urine proteinogenic amino acid derivative level	10165	SLC25A13	OMIM:603471
HP:0033097	Increased urine proteinogenic amino acid derivative level	85007	PHYKPL	OMIM:615011
HP:0033097	Increased urine proteinogenic amino acid derivative level	443	ASPA	OMIM:271900
HP:0033097	Increased urine proteinogenic amino acid derivative level	64849	SLC13A3	OMIM:618384
HP:0033097	Increased urine proteinogenic amino acid derivative level	26873	OPLAH	OMIM:260005
HP:0033097	Increased urine proteinogenic amino acid derivative level	2937	GSS	OMIM:266130
HP:0033097	Increased urine proteinogenic amino acid derivative level	2937	GSS	OMIM:231900
HP:0033098	Increased urinary non-proteinogenic amino acid level	4982	TNFRSF11B	OMIM:239000
HP:0033098	Increased urinary non-proteinogenic amino acid level	8792	TNFRSF11A	OMIM:602080
HP:0033098	Increased urinary non-proteinogenic amino acid level	8792	TNFRSF11A	OMIM:174810
HP:0033098	Increased urinary non-proteinogenic amino acid level	153201	SLC36A2	OMIM:242600
HP:0033098	Increased urinary non-proteinogenic amino acid level	153201	SLC36A2	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	5625	PRODH	OMIM:239500
HP:0033098	Increased urinary non-proteinogenic amino acid level	348932	SLC6A18	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	54716	SLC6A20	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	340024	SLC6A19	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	8659	ALDH4A1	ORPHA:79101
HP:0033098	Increased urinary non-proteinogenic amino acid level	8659	ALDH4A1	OMIM:239510
HP:0033098	Increased urinary non-proteinogenic amino acid level	5352	PLOD2	OMIM:609220
HP:0033098	Increased urinary non-proteinogenic amino acid level	1491	CTH	OMIM:219500
HP:0033098	Increased urinary non-proteinogenic amino acid level	1491	CTH	ORPHA:212
HP:0033098	Increased urinary non-proteinogenic amino acid level	55788	LMBRD1	OMIM:277380
HP:0033098	Increased urinary non-proteinogenic amino acid level	25974	MMACHC	OMIM:277400
HP:0033098	Increased urinary non-proteinogenic amino acid level	5052	PRDX1	OMIM:277400
HP:0033098	Increased urinary non-proteinogenic amino acid level	11136	SLC7A9	OMIM:220100
HP:0033098	Increased urinary non-proteinogenic amino acid level	6519	SLC3A1	OMIM:220100
HP:0033098	Increased urinary non-proteinogenic amino acid level	9056	SLC7A7	ORPHA:470
HP:0033098	Increased urinary non-proteinogenic amino acid level	29958	DMGDH	OMIM:605850
HP:0033098	Increased urinary non-proteinogenic amino acid level	10157	AASS	ORPHA:3124
HP:0033098	Increased urinary non-proteinogenic amino acid level	64902	AGXT2	OMIM:210100
HP:0033098	Increased urinary non-proteinogenic amino acid level	200205	IBA57	OMIM:615330
HP:0033098	Increased urinary non-proteinogenic amino acid level	10166	SLC25A15	OMIM:238970
HP:0033098	Increased urinary non-proteinogenic amino acid level	2678	GGT1	OMIM:231950
HP:0033098	Increased urinary non-proteinogenic amino acid level	4337	MOCS1	OMIM:252150
HP:0033098	Increased urinary non-proteinogenic amino acid level	4329	ALDH6A1	OMIM:614105
HP:0033098	Increased urinary non-proteinogenic amino acid level	55526	DHTKD1	OMIM:204750
HP:0033098	Increased urinary non-proteinogenic amino acid level	27247	NFU1	OMIM:605711
HP:0033098	Increased urinary non-proteinogenic amino acid level	3954	LETM1	OMIM:620089
HP:0033098	Increased urinary non-proteinogenic amino acid level	7915	ALDH5A1	OMIM:271980
HP:0033099	Increased serine family amino acid in urine	2731	GLDC	OMIM:605899
HP:0033099	Increased serine family amino acid in urine	275	AMT	OMIM:605899
HP:0033099	Increased serine family amino acid in urine	3712	IVD	OMIM:243500
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	OMIM:242600
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	OMIM:138500
HP:0033099	Increased serine family amino acid in urine	27247	NFU1	OMIM:605711
HP:0033099	Increased serine family amino acid in urine	348932	SLC6A18	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	54716	SLC6A20	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	340024	SLC6A19	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	34	ACADM	OMIM:201450
HP:0033099	Increased serine family amino acid in urine	5625	PRODH	OMIM:239500
HP:0033099	Increased serine family amino acid in urine	64087	MCCC2	OMIM:210210
HP:0033099	Increased serine family amino acid in urine	132158	GLYCTK	ORPHA:941
HP:0033099	Increased serine family amino acid in urine	8659	ALDH4A1	OMIM:239510
HP:0033099	Increased serine family amino acid in urine	5095	PCCA	OMIM:606054
HP:0033099	Increased serine family amino acid in urine	5096	PCCB	OMIM:606054
HP:0004704	Short fifth metatarsal	54101	RIPK4	ORPHA:1401
HP:0004704	Short fifth metatarsal	3239	HOXD13	ORPHA:93409
HP:0004704	Short fifth metatarsal	6925	TCF4	OMIM:610954
HP:0004704	Short fifth metatarsal	9578	CDC42BPB	OMIM:619841
HP:0004704	Short fifth metatarsal	2778	GNAS	ORPHA:79443
HP:0004704	Short fifth metatarsal	2778	GNAS	ORPHA:79444
HP:0004704	Short fifth metatarsal	23288	IQCE	OMIM:617642
HP:0004704	Short fifth metatarsal	341208	HEPHL1	OMIM:261990
HP:0004712	Renal malrotation	9158	FIBP	OMIM:617107
HP:0004712	Renal malrotation	9158	FIBP	ORPHA:500095
HP:0004712	Renal malrotation	57167	SALL4	ORPHA:959
HP:0004712	Renal malrotation	57167	SALL4	OMIM:607323
HP:0004712	Renal malrotation	6664	SOX11	OMIM:615866
HP:0004712	Renal malrotation	2138	EYA1	OMIM:113650
HP:0004712	Renal malrotation	6495	SIX1	OMIM:113650
HP:0004712	Renal malrotation	64220	STRA6	OMIM:601186
HP:0004712	Renal malrotation	5076	PAX2	OMIM:120330
HP:0004712	Renal malrotation	9939	RBM8A	ORPHA:3320
HP:0004712	Renal malrotation	9939	RBM8A	OMIM:274000
HP:0000003	Multicystic kidney dysplasia	23476	BRD4	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	9126	SMC3	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	8243	SMC1A	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	25836	NIPBL	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	55869	HDAC8	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	5885	RAD21	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	92482	BBIP1	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	80184	CEP290	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	80184	CEP290	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	11020	IFT27	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	582	BBS1	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	49855	SCAPER	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	4867	NPHP1	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	51057	WDPCP	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	27241	BBS9	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	84984	CEP19	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	22954	TRIM32	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	54903	MKS1	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	54903	MKS1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79738	BBS10	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	123016	TTC8	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	26160	IFT172	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	583	BBS2	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	585	BBS4	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	8195	MKKS	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	8195	MKKS	ORPHA:2473
HP:0000003	Multicystic kidney dysplasia	54585	LZTFL1	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	55212	BBS7	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	166379	BBS12	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	10806	SDCCAG8	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	157657	CFAP418	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	84100	ARL6	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	129880	BBS5	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	80173	IFT74	ORPHA:110
HP:0000003	Multicystic kidney dysplasia	341640	FREM2	ORPHA:2052
HP:0000003	Multicystic kidney dysplasia	80144	FRAS1	ORPHA:2052
HP:0000003	Multicystic kidney dysplasia	23426	GRIP1	ORPHA:2052
HP:0000003	Multicystic kidney dysplasia	3975	LHX1	ORPHA:261265
HP:0000003	Multicystic kidney dysplasia	6928	HNF1B	ORPHA:261265
HP:0000003	Multicystic kidney dysplasia	6928	HNF1B	ORPHA:93111
HP:0000003	Multicystic kidney dysplasia	9158	FIBP	ORPHA:500095
HP:0000003	Multicystic kidney dysplasia	64840	PORCN	ORPHA:2092
HP:0000003	Multicystic kidney dysplasia	23556	PIGN	ORPHA:2059
HP:0000003	Multicystic kidney dysplasia	9759	HDAC4	ORPHA:1001
HP:0000003	Multicystic kidney dysplasia	145173	B3GLCT	ORPHA:709
HP:0000003	Multicystic kidney dysplasia	10992	SF3B2	OMIM:164210
HP:0000003	Multicystic kidney dysplasia	1131	CHRM3	ORPHA:2970
HP:0000003	Multicystic kidney dysplasia	7473	WNT3	ORPHA:3301
HP:0000003	Multicystic kidney dysplasia	340419	RSPO2	ORPHA:3301
HP:0000003	Multicystic kidney dysplasia	8405	SPOP	OMIM:618829
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	OMIM:607361
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:140976
HP:0000003	Multicystic kidney dysplasia	2138	EYA1	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	147912	SIX5	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	6495	SIX1	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	3909	LAMA3	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	3918	LAMC2	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	3914	LAMB3	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	9839	ZEB2	ORPHA:261537
HP:0000003	Multicystic kidney dysplasia	9839	ZEB2	ORPHA:261552
HP:0000003	Multicystic kidney dysplasia	8204	NRIP1	OMIM:618270
HP:0000003	Multicystic kidney dysplasia	51360	MBTPS2	OMIM:308205
HP:0000003	Multicystic kidney dysplasia	6299	SALL1	OMIM:107480
HP:0000003	Multicystic kidney dysplasia	6628	SNRPB	ORPHA:1393
HP:0000003	Multicystic kidney dysplasia	11041	B4GAT1	OMIM:615287
HP:0000003	Multicystic kidney dysplasia	23522	KAT6B	ORPHA:85201
HP:0000003	Multicystic kidney dysplasia	23522	KAT6B	OMIM:606170
HP:0000003	Multicystic kidney dysplasia	5076	PAX2	ORPHA:1475
HP:0000003	Multicystic kidney dysplasia	5076	PAX2	OMIM:120330
HP:0000003	Multicystic kidney dysplasia	55784	MCTP2	ORPHA:1596
HP:0000003	Multicystic kidney dysplasia	1717	DHCR7	ORPHA:818
HP:0000003	Multicystic kidney dysplasia	25802	LMOD1	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	4629	MYH11	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	72	ACTG2	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	4638	MYLK	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	2767	GNA11	ORPHA:1556
HP:0000003	Multicystic kidney dysplasia	151188	ARL6IP6	ORPHA:1556
HP:0000003	Multicystic kidney dysplasia	139285	AMER1	OMIM:300373
HP:0000003	Multicystic kidney dysplasia	403	ARL3	OMIM:618161
HP:0000003	Multicystic kidney dysplasia	2239	GPC4	ORPHA:373
HP:0000003	Multicystic kidney dysplasia	2719	GPC3	ORPHA:373
HP:0000003	Multicystic kidney dysplasia	3978	LIG1	OMIM:619774
HP:0000003	Multicystic kidney dysplasia	64359	NXN	ORPHA:1507
HP:0000003	Multicystic kidney dysplasia	4920	ROR2	ORPHA:1507
HP:0000003	Multicystic kidney dysplasia	10225	CD96	ORPHA:1308
HP:0000003	Multicystic kidney dysplasia	27077	B9D1	OMIM:614209
HP:0000003	Multicystic kidney dysplasia	27077	B9D1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	8481	OFD1	ORPHA:2750
HP:0000003	Multicystic kidney dysplasia	701	BUB1B	OMIM:257300
HP:0000003	Multicystic kidney dysplasia	701	BUB1B	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	3239	HOXD13	ORPHA:887
HP:0000003	Multicystic kidney dysplasia	84314	TMEM107	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	26123	TCTN3	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79867	TCTN2	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	80776	B9D2	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79600	TCTN1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57096	RPGRIP1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79848	CSPP1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	51259	TMEM216	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57545	CC2D2A	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57545	CC2D2A	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	79583	TMEM231	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79770	TXNDC15	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	23322	RPGRIP1L	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	23322	RPGRIP1L	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	65062	TMEM237	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	27031	NPHP3	OMIM:267010
HP:0000003	Multicystic kidney dysplasia	27031	NPHP3	ORPHA:3032
HP:0000003	Multicystic kidney dysplasia	25970	SH2B1	ORPHA:261197
HP:0000003	Multicystic kidney dysplasia	9184	BUB3	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	699	BUB1	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	9702	CEP57	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	9319	TRIP13	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	56623	INPP5E	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	7020	TFAP2A	ORPHA:1297
HP:0000003	Multicystic kidney dysplasia	63895	PIEZO2	ORPHA:2461
HP:0000003	Multicystic kidney dysplasia	55670	PEX26	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5824	PEX19	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5828	PEX2	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	8504	PEX3	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	8799	PEX11B	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	9409	PEX16	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5190	PEX6	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5830	PEX5	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5189	PEX1	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5193	PEX12	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5194	PEX13	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5195	PEX14	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5192	PEX10	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	80000	GREB1L	OMIM:617805
HP:0000003	Multicystic kidney dysplasia	2313	FLI1	ORPHA:2308
HP:0004717	Axial malrotation of the kidney	9939	RBM8A	ORPHA:3320
HP:0004717	Axial malrotation of the kidney	9939	RBM8A	OMIM:274000
HP:0004719	Hyperechogenic kidneys	5972	REN	OMIM:613092
HP:0004719	Hyperechogenic kidneys	79989	IFT56	OMIM:619534
HP:0004719	Hyperechogenic kidneys	5314	PKHD1	OMIM:263200
HP:0004719	Hyperechogenic kidneys	57545	CC2D2A	OMIM:619111
HP:0004719	Hyperechogenic kidneys	54914	FOCAD	OMIM:619991
HP:0004719	Hyperechogenic kidneys	10463	SLC30A9	OMIM:617595
HP:0004719	Hyperechogenic kidneys	7468	NSD2	OMIM:619695
HP:0004719	Hyperechogenic kidneys	199221	DZIP1L	OMIM:617610
HP:0004719	Hyperechogenic kidneys	79848	CSPP1	OMIM:615636
HP:0004719	Hyperechogenic kidneys	79848	CSPP1	ORPHA:397715
HP:0004719	Hyperechogenic kidneys	9928	KIF14	OMIM:617914
HP:0004719	Hyperechogenic kidneys	63929	XPNPEP3	OMIM:613159
HP:0004719	Hyperechogenic kidneys	10015	PDCD6IP	OMIM:620047
HP:0004719	Hyperechogenic kidneys	3913	LAMB2	OMIM:609049
HP:0004719	Hyperechogenic kidneys	84992	PIGY	OMIM:616809
HP:0004719	Hyperechogenic kidneys	286204	CRB2	OMIM:219730
HP:0004719	Hyperechogenic kidneys	81	ACTN4	OMIM:603278
HP:0004719	Hyperechogenic kidneys	9786	KIAA0586	ORPHA:397715
HP:0004719	Hyperechogenic kidneys	80114	BICC1	OMIM:601331
HP:0004719	Hyperechogenic kidneys	100147744	RNU7-1	OMIM:619487
HP:0004719	Hyperechogenic kidneys	5087	PBX1	OMIM:617641
HP:0004719	Hyperechogenic kidneys	112752	IFT43	OMIM:617866
HP:0004719	Hyperechogenic kidneys	57511	COG6	OMIM:614576
HP:0004719	Hyperechogenic kidneys	7289	TULP3	OMIM:619902
HP:0004719	Hyperechogenic kidneys	22858	CILK1	OMIM:612651
HP:0004719	Hyperechogenic kidneys	51473	DCDC2	ORPHA:84081
HP:0004719	Hyperechogenic kidneys	51473	DCDC2	OMIM:616217
HP:0004719	Hyperechogenic kidneys	91147	TMEM67	ORPHA:84081
HP:0004719	Hyperechogenic kidneys	79867	TCTN2	OMIM:613885
HP:0004719	Hyperechogenic kidneys	9096	TBX18	OMIM:143400
HP:0004719	Hyperechogenic kidneys	54938	SARS2	OMIM:613845
HP:0004719	Hyperechogenic kidneys	27130	INVS	OMIM:602088
HP:0004719	Hyperechogenic kidneys	93649	MYOCD	OMIM:618719
HP:0000110	Renal dysplasia	9949	AMMECR1	OMIM:300990
HP:0000110	Renal dysplasia	2737	GLI3	ORPHA:672
HP:0000110	Renal dysplasia	2737	GLI3	OMIM:146510
HP:0000110	Renal dysplasia	83483	PLVAP	OMIM:618183
HP:0000110	Renal dysplasia	79659	DYNC2H1	OMIM:613091
HP:0000110	Renal dysplasia	4613	MYCN	ORPHA:391641
HP:0000110	Renal dysplasia	65250	CPLANE1	OMIM:277170
HP:0000110	Renal dysplasia	2138	EYA1	OMIM:113650
HP:0000110	Renal dysplasia	6495	SIX1	OMIM:113650
HP:0000110	Renal dysplasia	5339	PLEC	ORPHA:158684
HP:0000110	Renal dysplasia	3691	ITGB4	ORPHA:158684
HP:0000110	Renal dysplasia	3691	ITGB4	ORPHA:79403
HP:0000110	Renal dysplasia	51604	PIGT	ORPHA:369837
HP:0000110	Renal dysplasia	10806	SDCCAG8	OMIM:615993
HP:0000110	Renal dysplasia	8239	USP9X	ORPHA:480880
HP:0000110	Renal dysplasia	8239	USP9X	OMIM:300968
HP:0000110	Renal dysplasia	6608	SMO	OMIM:241800
HP:0000110	Renal dysplasia	55165	CEP55	OMIM:236500
HP:0000110	Renal dysplasia	8626	TP63	OMIM:604292
HP:0000110	Renal dysplasia	25915	NDUFAF3	ORPHA:70474
HP:0000110	Renal dysplasia	4714	NDUFB8	ORPHA:70474
HP:0000110	Renal dysplasia	4720	NDUFS2	ORPHA:70474
HP:0000110	Renal dysplasia	9997	SCO2	ORPHA:70474
HP:0000110	Renal dysplasia	6834	SURF1	ORPHA:70474
HP:0000110	Renal dysplasia	3655	ITGA6	ORPHA:79403
HP:0000110	Renal dysplasia	79848	CSPP1	ORPHA:397715
HP:0000110	Renal dysplasia	9786	KIAA0586	ORPHA:397715
HP:0000110	Renal dysplasia	2887	GRB10	ORPHA:96182
HP:0000110	Renal dysplasia	80114	BICC1	OMIM:601331
HP:0000110	Renal dysplasia	51360	MBTPS2	OMIM:308205
HP:0000110	Renal dysplasia	51360	MBTPS2	ORPHA:85284
HP:0000110	Renal dysplasia	7707	ZNF148	OMIM:617260
HP:0000110	Renal dysplasia	6299	SALL1	OMIM:107480
HP:0000110	Renal dysplasia	170302	ARX	OMIM:300004
HP:0000110	Renal dysplasia	170302	ARX	ORPHA:2508
HP:0000110	Renal dysplasia	170302	ARX	ORPHA:1934
HP:0000110	Renal dysplasia	27031	NPHP3	OMIM:208540
HP:0000110	Renal dysplasia	27031	NPHP3	ORPHA:3032
HP:0000110	Renal dysplasia	10229	COQ7	OMIM:616733
HP:0000110	Renal dysplasia	9158	FIBP	OMIM:617107
HP:0000110	Renal dysplasia	2625	GATA3	OMIM:146255
HP:0000110	Renal dysplasia	2625	GATA3	ORPHA:2237
HP:0000110	Renal dysplasia	5076	PAX2	ORPHA:1475
HP:0000110	Renal dysplasia	182	JAG1	OMIM:118450
HP:0000110	Renal dysplasia	29954	POMT2	OMIM:236670
HP:0000110	Renal dysplasia	9215	LARGE1	OMIM:236670
HP:0000110	Renal dysplasia	79147	FKRP	OMIM:236670
HP:0000110	Renal dysplasia	10585	POMT1	OMIM:236670
HP:0000110	Renal dysplasia	2218	FKTN	OMIM:236670
HP:0000110	Renal dysplasia	1376	CPT2	OMIM:608836
HP:0000110	Renal dysplasia	23556	PIGN	OMIM:614080
HP:0000110	Renal dysplasia	85358	SHANK3	ORPHA:48652
HP:0000110	Renal dysplasia	55005	RMND1	OMIM:614922
HP:0000110	Renal dysplasia	6899	TBX1	OMIM:188400
HP:0000110	Renal dysplasia	9742	IFT140	OMIM:266920
HP:0000110	Renal dysplasia	8516	ITGA8	OMIM:191830
HP:0000110	Renal dysplasia	5087	PBX1	OMIM:617641
HP:0000110	Renal dysplasia	26173	INTS1	OMIM:618571
HP:0000110	Renal dysplasia	123016	TTC8	OMIM:615985
HP:0000110	Renal dysplasia	147912	SIX5	OMIM:610896
HP:0000110	Renal dysplasia	63895	PIEZO2	ORPHA:2461
HP:0000110	Renal dysplasia	9096	TBX18	OMIM:143400
HP:0000110	Renal dysplasia	80000	GREB1L	OMIM:617805
HP:0000110	Renal dysplasia	6792	CDKL5	ORPHA:1934
HP:0000110	Renal dysplasia	3736	KCNA1	ORPHA:1934
HP:0000110	Renal dysplasia	9091	PIGQ	ORPHA:1934
HP:0000110	Renal dysplasia	2775	GNAO1	ORPHA:1934
HP:0000110	Renal dysplasia	81603	TRIM8	ORPHA:1934
HP:0000110	Renal dysplasia	2902	GRIN1	ORPHA:1934
HP:0000110	Renal dysplasia	79751	SLC25A22	ORPHA:1934
HP:0000110	Renal dysplasia	150094	SIK1	ORPHA:1934
HP:0000110	Renal dysplasia	8573	CASK	ORPHA:1934
HP:0000110	Renal dysplasia	23312	DMXL2	ORPHA:1934
HP:0000110	Renal dysplasia	2917	GRM7	ORPHA:1934
HP:0000110	Renal dysplasia	11284	PNKP	ORPHA:1934
HP:0000110	Renal dysplasia	6326	SCN2A	ORPHA:1934
HP:0000110	Renal dysplasia	51227	PIGP	ORPHA:1934
HP:0000110	Renal dysplasia	6324	SCN1B	ORPHA:1934
HP:0000110	Renal dysplasia	4761	NEUROD2	ORPHA:1934
HP:0000110	Renal dysplasia	54796	BNC2	ORPHA:93110
HP:0000110	Renal dysplasia	374879	ZNF699	OMIM:619488
HP:0000110	Renal dysplasia	6651	SON	ORPHA:500150
HP:0004722	Thickened glomerular basement membrane	3075	CFH	OMIM:609814
HP:0004722	Thickened glomerular basement membrane	100147744	RNU7-1	OMIM:619487
HP:0004722	Thickened glomerular basement membrane	9722	NOS1AP	OMIM:619155
HP:0004722	Thickened glomerular basement membrane	1285	COL4A3	OMIM:203780
HP:0004722	Thickened glomerular basement membrane	1285	COL4A3	OMIM:104200
HP:0004722	Thickened glomerular basement membrane	1286	COL4A4	OMIM:203780
HP:0004722	Thickened glomerular basement membrane	4010	LMX1B	ORPHA:2614
HP:0004722	Thickened glomerular basement membrane	2625	GATA3	OMIM:146255
HP:0004722	Thickened glomerular basement membrane	51134	CEP83	OMIM:615862
HP:0004722	Thickened glomerular basement membrane	8526	DGKE	OMIM:615008
HP:0004722	Thickened glomerular basement membrane	1287	COL4A5	OMIM:301050
HP:0004722	Thickened glomerular basement membrane	977	CD151	OMIM:609057
HP:0000083	Renal insufficiency	26191	PTPN22	ORPHA:397
HP:0000083	Renal insufficiency	26191	PTPN22	ORPHA:900
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:397
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:117
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:36426
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:397
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:797
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:220393
HP:0000083	Renal insufficiency	8974	P4HA2	ORPHA:397
HP:0000083	Renal insufficiency	355	FAS	ORPHA:3261
HP:0000083	Renal insufficiency	355	FAS	ORPHA:117
HP:0000083	Renal insufficiency	356	FASLG	ORPHA:3261
HP:0000083	Renal insufficiency	843	CASP10	ORPHA:3261
HP:0000083	Renal insufficiency	10125	RASGRP1	ORPHA:3261
HP:0000083	Renal insufficiency	9860	LRIG2	OMIM:615112
HP:0000083	Renal insufficiency	9860	LRIG2	ORPHA:2704
HP:0000083	Renal insufficiency	8518	ELP1	ORPHA:1764
HP:0000083	Renal insufficiency	1161	ERCC8	ORPHA:90324
HP:0000083	Renal insufficiency	1161	ERCC8	ORPHA:90321
HP:0000083	Renal insufficiency	1161	ERCC8	OMIM:216400
HP:0000083	Renal insufficiency	2074	ERCC6	ORPHA:90324
HP:0000083	Renal insufficiency	2074	ERCC6	ORPHA:90321
HP:0000083	Renal insufficiency	2074	ERCC6	OMIM:133540
HP:0000083	Renal insufficiency	57539	WDR35	OMIM:613610
HP:0000083	Renal insufficiency	3209	HOXA13	OMIM:140000
HP:0000083	Renal insufficiency	84942	WDR73	OMIM:251300
HP:0000083	Renal insufficiency	84942	WDR73	ORPHA:83472
HP:0000083	Renal insufficiency	1131	CHRM3	ORPHA:2970
HP:0000083	Renal insufficiency	81839	VANGL1	ORPHA:3027
HP:0000083	Renal insufficiency	80199	FUZ	ORPHA:3027
HP:0000083	Renal insufficiency	2072	ERCC4	ORPHA:90321
HP:0000083	Renal insufficiency	2072	ERCC4	ORPHA:84
HP:0000083	Renal insufficiency	2072	ERCC4	OMIM:610965
HP:0000083	Renal insufficiency	64324	NSD1	ORPHA:821
HP:0000083	Renal insufficiency	29072	SETD2	ORPHA:821
HP:0000083	Renal insufficiency	10297	APC2	ORPHA:821
HP:0000083	Renal insufficiency	79848	CSPP1	ORPHA:397715
HP:0000083	Renal insufficiency	9786	KIAA0586	ORPHA:397715
HP:0000083	Renal insufficiency	11136	SLC7A9	OMIM:220100
HP:0000083	Renal insufficiency	6519	SLC3A1	OMIM:220100
HP:0000083	Renal insufficiency	4312	MMP1	ORPHA:79408
HP:0000083	Renal insufficiency	1294	COL7A1	ORPHA:79408
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:143
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:99880
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:99879
HP:0000083	Renal insufficiency	4311	MME	ORPHA:69063
HP:0000083	Renal insufficiency	9380	GRHPR	OMIM:260000
HP:0000083	Renal insufficiency	9380	GRHPR	ORPHA:93599
HP:0000083	Renal insufficiency	65062	TMEM237	ORPHA:220497
HP:0000083	Renal insufficiency	65062	TMEM237	ORPHA:2318
HP:0000083	Renal insufficiency	79947	DHDDS	OMIM:613861
HP:0000083	Renal insufficiency	9640	ZNF592	ORPHA:83472
HP:0000083	Renal insufficiency	6523	SLC5A1	ORPHA:35710
HP:0000083	Renal insufficiency	9382	COG1	OMIM:611209
HP:0000083	Renal insufficiency	55034	MOCOS	OMIM:603592
HP:0000083	Renal insufficiency	9071	CLDN10	OMIM:617671
HP:0000083	Renal insufficiency	81693	AMN	OMIM:618882
HP:0000083	Renal insufficiency	3043	HBB	OMIM:603903
HP:0000083	Renal insufficiency	8029	CUBN	OMIM:618884
HP:0000083	Renal insufficiency	2859	GPR35	ORPHA:171
HP:0000083	Renal insufficiency	10507	SEMA4D	ORPHA:171
HP:0000083	Renal insufficiency	4485	MST1	ORPHA:171
HP:0000083	Renal insufficiency	6925	TCF4	ORPHA:171
HP:0000083	Renal insufficiency	54757	FAM20A	OMIM:204690
HP:0000083	Renal insufficiency	54757	FAM20A	ORPHA:1031
HP:0000083	Renal insufficiency	412	STS	ORPHA:281090
HP:0000083	Renal insufficiency	672	BRCA1	ORPHA:84
HP:0000083	Renal insufficiency	10459	MAD2L2	ORPHA:84
HP:0000083	Renal insufficiency	7516	XRCC2	ORPHA:84
HP:0000083	Renal insufficiency	29089	UBE2T	ORPHA:84
HP:0000083	Renal insufficiency	675	BRCA2	ORPHA:84
HP:0000083	Renal insufficiency	55120	FANCL	ORPHA:84
HP:0000083	Renal insufficiency	2177	FANCD2	ORPHA:84
HP:0000083	Renal insufficiency	2175	FANCA	ORPHA:84
HP:0000083	Renal insufficiency	2187	FANCB	ORPHA:84
HP:0000083	Renal insufficiency	2176	FANCC	ORPHA:84
HP:0000083	Renal insufficiency	2178	FANCE	ORPHA:84
HP:0000083	Renal insufficiency	2188	FANCF	ORPHA:84
HP:0000083	Renal insufficiency	2189	FANCG	ORPHA:84
HP:0000083	Renal insufficiency	5888	RAD51	ORPHA:84
HP:0000083	Renal insufficiency	55159	RFWD3	ORPHA:84
HP:0000083	Renal insufficiency	83990	BRIP1	ORPHA:84
HP:0000083	Renal insufficiency	57697	FANCM	ORPHA:84
HP:0000083	Renal insufficiency	79728	PALB2	ORPHA:84
HP:0000083	Renal insufficiency	84464	SLX4	ORPHA:84
HP:0000083	Renal insufficiency	55215	FANCI	ORPHA:84
HP:0000083	Renal insufficiency	6899	TBX1	OMIM:188400
HP:0000083	Renal insufficiency	1175	AP2S1	OMIM:600740
HP:0000083	Renal insufficiency	5224	PGAM2	OMIM:261670
HP:0000083	Renal insufficiency	60495	HPSE2	ORPHA:2704
HP:0000083	Renal insufficiency	950	SCARB2	OMIM:254900
HP:0000083	Renal insufficiency	9096	TBX18	OMIM:143400
HP:0000083	Renal insufficiency	5230	PGK1	ORPHA:713
HP:0000083	Renal insufficiency	5230	PGK1	OMIM:300653
HP:0000083	Renal insufficiency	3265	HRAS	OMIM:218040
HP:0000083	Renal insufficiency	5080	PAX6	OMIM:194072
HP:0000083	Renal insufficiency	54345	SOX18	OMIM:137940
HP:0000083	Renal insufficiency	55112	DYNC2I1	ORPHA:474
HP:0000083	Renal insufficiency	26160	IFT172	ORPHA:474
HP:0000083	Renal insufficiency	153241	CEP120	ORPHA:474
HP:0000083	Renal insufficiency	57560	IFT80	ORPHA:474
HP:0000083	Renal insufficiency	51626	DYNC2LI1	ORPHA:474
HP:0000083	Renal insufficiency	79659	DYNC2H1	ORPHA:474
HP:0000083	Renal insufficiency	89891	DYNC2I2	ORPHA:474
HP:0000083	Renal insufficiency	114548	NLRP3	OMIM:191900
HP:0000083	Renal insufficiency	10908	PNPLA6	ORPHA:2377
HP:0000083	Renal insufficiency	1282	COL4A1	ORPHA:73229
HP:0000083	Renal insufficiency	1282	COL4A1	OMIM:611773
HP:0000083	Renal insufficiency	6804	STX1A	ORPHA:904
HP:0000083	Renal insufficiency	7461	CLIP2	ORPHA:904
HP:0000083	Renal insufficiency	84277	DNAJC30	ORPHA:904
HP:0000083	Renal insufficiency	8468	FKBP6	ORPHA:904
HP:0000083	Renal insufficiency	5982	RFC2	ORPHA:904
HP:0000083	Renal insufficiency	2969	GTF2I	ORPHA:904
HP:0000083	Renal insufficiency	3984	LIMK1	ORPHA:904
HP:0000083	Renal insufficiency	9569	GTF2IRD1	ORPHA:904
HP:0000083	Renal insufficiency	155382	VPS37D	ORPHA:904
HP:0000083	Renal insufficiency	155368	METTL27	ORPHA:904
HP:0000083	Renal insufficiency	114049	BUD23	ORPHA:904
HP:0000083	Renal insufficiency	7458	EIF4H	ORPHA:904
HP:0000083	Renal insufficiency	84163	GTF2IRD2	ORPHA:904
HP:0000083	Renal insufficiency	9275	BCL7B	ORPHA:904
HP:0000083	Renal insufficiency	26608	TBL2	ORPHA:904
HP:0000083	Renal insufficiency	653361	NCF1	ORPHA:904
HP:0000083	Renal insufficiency	135886	TMEM270	ORPHA:904
HP:0000083	Renal insufficiency	51085	MLXIPL	ORPHA:904
HP:0000083	Renal insufficiency	51085	MLXIPL	OMIM:194050
HP:0000083	Renal insufficiency	9031	BAZ1B	ORPHA:904
HP:0000083	Renal insufficiency	2006	ELN	ORPHA:904
HP:0000083	Renal insufficiency	2006	ELN	OMIM:194050
HP:0000083	Renal insufficiency	1493	CTLA4	ORPHA:900
HP:0000083	Renal insufficiency	3115	HLA-DPB1	ORPHA:900
HP:0000083	Renal insufficiency	5657	PRTN3	ORPHA:900
HP:0000083	Renal insufficiency	3113	HLA-DPA1	ORPHA:900
HP:0000083	Renal insufficiency	8659	ALDH4A1	ORPHA:79101
HP:0000083	Renal insufficiency	3675	ITGA3	OMIM:614748
HP:0000083	Renal insufficiency	4567	MT-TL1	ORPHA:225
HP:0000083	Renal insufficiency	4556	MT-TE	ORPHA:225
HP:0000083	Renal insufficiency	4566	MT-TK	ORPHA:225
HP:0000083	Renal insufficiency	2138	EYA1	ORPHA:107
HP:0000083	Renal insufficiency	147912	SIX5	ORPHA:107
HP:0000083	Renal insufficiency	147912	SIX5	OMIM:610896
HP:0000083	Renal insufficiency	6495	SIX1	ORPHA:107
HP:0000083	Renal insufficiency	229	ALDOB	ORPHA:469
HP:0000083	Renal insufficiency	56052	ALG1	ORPHA:79327
HP:0000083	Renal insufficiency	554	AVPR2	ORPHA:223
HP:0000083	Renal insufficiency	359	AQP2	ORPHA:223
HP:0000083	Renal insufficiency	3931	LCAT	OMIM:245900
HP:0000083	Renal insufficiency	57169	ZNFX1	OMIM:619644
HP:0000083	Renal insufficiency	92002	CCNQ	ORPHA:140952
HP:0000083	Renal insufficiency	9968	MED12	OMIM:301068
HP:0000083	Renal insufficiency	7369	UMOD	OMIM:162000
HP:0000083	Renal insufficiency	2717	GLA	OMIM:301500
HP:0000083	Renal insufficiency	2717	GLA	ORPHA:324
HP:0000083	Renal insufficiency	4193	MDM2	OMIM:618681
HP:0000083	Renal insufficiency	10463	SLC30A9	OMIM:617595
HP:0000083	Renal insufficiency	2625	GATA3	ORPHA:2237
HP:0000083	Renal insufficiency	54916	TMEM260	OMIM:617478
HP:0000083	Renal insufficiency	2184	FAH	OMIM:276700
HP:0000083	Renal insufficiency	4615	MYD88	ORPHA:33226
HP:0000083	Renal insufficiency	27241	BBS9	OMIM:615986
HP:0000083	Renal insufficiency	79738	BBS10	OMIM:615987
HP:0000083	Renal insufficiency	149233	IL23R	ORPHA:117
HP:0000083	Renal insufficiency	6775	STAT4	ORPHA:117
HP:0000083	Renal insufficiency	6775	STAT4	ORPHA:93552
HP:0000083	Renal insufficiency	3586	IL10	ORPHA:117
HP:0000083	Renal insufficiency	1230	CCR1	ORPHA:117
HP:0000083	Renal insufficiency	3592	IL12A	ORPHA:117
HP:0000083	Renal insufficiency	101928376	IL12A-AS1	ORPHA:117
HP:0000083	Renal insufficiency	7099	TLR4	ORPHA:117
HP:0000083	Renal insufficiency	3459	IFNGR1	ORPHA:117
HP:0000083	Renal insufficiency	720	C4A	ORPHA:117
HP:0000083	Renal insufficiency	337867	UBAC2	ORPHA:117
HP:0000083	Renal insufficiency	51752	ERAP1	ORPHA:117
HP:0000083	Renal insufficiency	8302	KLRC4	ORPHA:117
HP:0000083	Renal insufficiency	11020	IFT27	OMIM:615996
HP:0000083	Renal insufficiency	51259	TMEM216	OMIM:608091
HP:0000083	Renal insufficiency	51259	TMEM216	ORPHA:2318
HP:0000083	Renal insufficiency	6696	SPP1	ORPHA:93552
HP:0000083	Renal insufficiency	3654	IRAK1	ORPHA:93552
HP:0000083	Renal insufficiency	79813	EHMT1	ORPHA:96147
HP:0000083	Renal insufficiency	1776	DNASE1L3	ORPHA:36412
HP:0000083	Renal insufficiency	81570	CLPB	ORPHA:445038
HP:0000083	Renal insufficiency	6299	SALL1	OMIM:107480
HP:0000083	Renal insufficiency	6299	SALL1	ORPHA:857
HP:0000083	Renal insufficiency	23729	SHPK	ORPHA:440713
HP:0000083	Renal insufficiency	10320	IKZF1	ORPHA:36426
HP:0000083	Renal insufficiency	486	FXYD2	OMIM:154020
HP:0000083	Renal insufficiency	1108	CHD4	OMIM:617159
HP:0000083	Renal insufficiency	4221	MEN1	ORPHA:99879
HP:0000083	Renal insufficiency	9247	GCM2	ORPHA:99879
HP:0000083	Renal insufficiency	51524	TMEM138	ORPHA:2318
HP:0000083	Renal insufficiency	23090	ZNF423	ORPHA:2318
HP:0000083	Renal insufficiency	3291	HSD11B2	ORPHA:320
HP:0000083	Renal insufficiency	9451	EIF2AK3	OMIM:226980
HP:0000083	Renal insufficiency	9451	EIF2AK3	ORPHA:1667
HP:0000083	Renal insufficiency	56623	INPP5E	ORPHA:1454
HP:0000083	Renal insufficiency	151516	ASPRV1	ORPHA:313
HP:0000083	Renal insufficiency	242	ALOX12B	ORPHA:313
HP:0000083	Renal insufficiency	126410	CYP4F22	ORPHA:313
HP:0000083	Renal insufficiency	6820	SULT2B1	ORPHA:313
HP:0000083	Renal insufficiency	26154	ABCA12	ORPHA:313
HP:0000083	Renal insufficiency	643418	LIPN	ORPHA:313
HP:0000083	Renal insufficiency	59344	ALOXE3	ORPHA:313
HP:0000083	Renal insufficiency	348938	NIPAL4	ORPHA:313
HP:0000083	Renal insufficiency	121214	SDR9C7	ORPHA:313
HP:0000083	Renal insufficiency	7051	TGM1	ORPHA:313
HP:0000083	Renal insufficiency	56244	BTNL2	ORPHA:797
HP:0000083	Renal insufficiency	23476	BRD4	ORPHA:199
HP:0000083	Renal insufficiency	9126	SMC3	ORPHA:199
HP:0000083	Renal insufficiency	8243	SMC1A	ORPHA:199
HP:0000083	Renal insufficiency	25836	NIPBL	ORPHA:199
HP:0000083	Renal insufficiency	55869	HDAC8	ORPHA:199
HP:0000083	Renal insufficiency	5885	RAD21	ORPHA:199
HP:0000083	Renal insufficiency	4613	MYCN	ORPHA:391641
HP:0000083	Renal insufficiency	6338	SCNN1B	OMIM:177200
HP:0000083	Renal insufficiency	6338	SCNN1B	ORPHA:526
HP:0000083	Renal insufficiency	3975	LHX1	ORPHA:261265
HP:0000083	Renal insufficiency	4576	MT-TT	ORPHA:254857
HP:0000083	Renal insufficiency	3257	HPS1	OMIM:203300
HP:0000083	Renal insufficiency	23630	KCNE5	ORPHA:86818
HP:0000083	Renal insufficiency	2182	ACSL4	ORPHA:86818
HP:0000083	Renal insufficiency	9949	AMMECR1	ORPHA:86818
HP:0000083	Renal insufficiency	284252	KCTD1	OMIM:181270
HP:0000083	Renal insufficiency	100506658	OCLN	OMIM:251290
HP:0000083	Renal insufficiency	51339	DACT1	ORPHA:857
HP:0000083	Renal insufficiency	5264	PHYH	ORPHA:773
HP:0000083	Renal insufficiency	5191	PEX7	ORPHA:773
HP:0000083	Renal insufficiency	348	APOE	OMIM:611771
HP:0000083	Renal insufficiency	25974	MMACHC	ORPHA:79282
HP:0000083	Renal insufficiency	25974	MMACHC	OMIM:277400
HP:0000083	Renal insufficiency	55005	RMND1	OMIM:614922
HP:0000083	Renal insufficiency	6340	SCNN1G	ORPHA:526
HP:0000083	Renal insufficiency	6337	SCNN1A	ORPHA:526
HP:0000083	Renal insufficiency	4853	NOTCH2	OMIM:610205
HP:0000083	Renal insufficiency	8481	OFD1	ORPHA:2750
HP:0000083	Renal insufficiency	23592	LEMD3	ORPHA:1306
HP:0000083	Renal insufficiency	3735	KARS1	OMIM:619147
HP:0000083	Renal insufficiency	5087	PBX1	OMIM:617641
HP:0000083	Renal insufficiency	9054	NFS1	OMIM:619386
HP:0000083	Renal insufficiency	1235	CCR6	ORPHA:220393
HP:0000083	Renal insufficiency	1490	CCN2	ORPHA:220393
HP:0000083	Renal insufficiency	3663	IRF5	ORPHA:220393
HP:0000083	Renal insufficiency	857	CAV1	ORPHA:220393
HP:0000083	Renal insufficiency	4627	MYH9	ORPHA:182050
HP:0000083	Renal insufficiency	3145	HMBS	ORPHA:79276
HP:0000083	Renal insufficiency	5052	PRDX1	OMIM:277400
HP:0000083	Renal insufficiency	7809	BSND	ORPHA:89938
HP:0000083	Renal insufficiency	1188	CLCNKB	ORPHA:89938
HP:0000083	Renal insufficiency	1187	CLCNKA	ORPHA:89938
HP:0000083	Renal insufficiency	3939	LDHA	ORPHA:284426
HP:0000083	Renal insufficiency	116085	SLC22A12	OMIM:220150
HP:0000083	Renal insufficiency	116085	SLC22A12	ORPHA:94088
HP:0000083	Renal insufficiency	595	CCND1	ORPHA:29073
HP:0000083	Renal insufficiency	5631	PRPS1	ORPHA:411543
HP:0000083	Renal insufficiency	5631	PRPS1	ORPHA:411536
HP:0000083	Renal insufficiency	2321	FLT1	ORPHA:275555
HP:0000083	Renal insufficiency	219736	STOX1	ORPHA:275555
HP:0000083	Renal insufficiency	10699	CORIN	ORPHA:275555
HP:0000083	Renal insufficiency	4179	CD46	OMIM:612922
HP:0000083	Renal insufficiency	4179	CD46	ORPHA:244242
HP:0000083	Renal insufficiency	629	CFB	OMIM:612924
HP:0000083	Renal insufficiency	6261	RYR1	ORPHA:466650
HP:0000083	Renal insufficiency	6261	RYR1	ORPHA:423
HP:0000083	Renal insufficiency	56606	SLC2A9	ORPHA:94088
HP:0000083	Renal insufficiency	3426	CFI	OMIM:612923
HP:0000083	Renal insufficiency	3426	CFI	ORPHA:244242
HP:0000083	Renal insufficiency	6928	HNF1B	ORPHA:93111
HP:0000083	Renal insufficiency	7056	THBD	OMIM:612926
HP:0000083	Renal insufficiency	779	CACNA1S	ORPHA:423
HP:0000083	Renal insufficiency	718	C3	OMIM:612925
HP:0000083	Renal insufficiency	23175	LPIN1	OMIM:268200
HP:0000083	Renal insufficiency	23175	LPIN1	ORPHA:99845
HP:0000083	Renal insufficiency	6288	SAA1	ORPHA:85445
HP:0000083	Renal insufficiency	3075	CFH	ORPHA:244242
HP:0000083	Renal insufficiency	3075	CFH	OMIM:235400
HP:0000083	Renal insufficiency	101101692	HELLPAR	ORPHA:244242
HP:0000083	Renal insufficiency	8526	DGKE	OMIM:615008
HP:0000083	Renal insufficiency	4512	MT-CO1	ORPHA:99845
HP:0000083	Renal insufficiency	4514	MT-CO3	ORPHA:99845
HP:0000083	Renal insufficiency	6948	TCN2	ORPHA:859
HP:0000083	Renal insufficiency	199221	DZIP1L	ORPHA:731
HP:0000083	Renal insufficiency	5314	PKHD1	ORPHA:731
HP:0000083	Renal insufficiency	353	APRT	ORPHA:976
HP:0000083	Renal insufficiency	6773	STAT2	OMIM:618886
HP:0000083	Renal insufficiency	5837	PYGM	ORPHA:368
HP:0000083	Renal insufficiency	5277	PIGA	ORPHA:447
HP:0000083	Renal insufficiency	226	ALDOA	ORPHA:57
HP:0000083	Renal insufficiency	9742	IFT140	OMIM:266920
HP:0000083	Renal insufficiency	10861	SLC26A1	OMIM:167030
HP:0000083	Renal insufficiency	3251	HPRT1	ORPHA:79233
HP:0000083	Renal insufficiency	3078	CFHR1	OMIM:235400
HP:0000083	Renal insufficiency	10878	CFHR3	OMIM:235400
HP:0000083	Renal insufficiency	51726	DNAJB11	OMIM:618061
HP:0000083	Renal insufficiency	51726	DNAJB11	ORPHA:730
HP:0000083	Renal insufficiency	261734	NPHP4	OMIM:606996
HP:0000083	Renal insufficiency	261734	NPHP4	OMIM:606966
HP:0000083	Renal insufficiency	261734	NPHP4	ORPHA:3156
HP:0000083	Renal insufficiency	1497	CTNS	OMIM:219800
HP:0000083	Renal insufficiency	1497	CTNS	OMIM:219900
HP:0000083	Renal insufficiency	1497	CTNS	ORPHA:411634
HP:0000083	Renal insufficiency	9722	NOS1AP	OMIM:619155
HP:0000083	Renal insufficiency	92482	BBIP1	OMIM:615995
HP:0000083	Renal insufficiency	10806	SDCCAG8	OMIM:615993
HP:0000083	Renal insufficiency	10806	SDCCAG8	ORPHA:3156
HP:0000083	Renal insufficiency	4010	LMX1B	ORPHA:2614
HP:0000083	Renal insufficiency	4010	LMX1B	OMIM:256020
HP:0000083	Renal insufficiency	54585	LZTFL1	OMIM:615994
HP:0000083	Renal insufficiency	80184	CEP290	OMIM:610188
HP:0000083	Renal insufficiency	80184	CEP290	OMIM:610189
HP:0000083	Renal insufficiency	80184	CEP290	ORPHA:3156
HP:0000083	Renal insufficiency	57122	NUP107	OMIM:618348
HP:0000083	Renal insufficiency	57122	NUP107	OMIM:616730
HP:0000083	Renal insufficiency	57122	NUP107	ORPHA:656
HP:0000083	Renal insufficiency	55746	NUP133	OMIM:618349
HP:0000083	Renal insufficiency	55746	NUP133	ORPHA:656
HP:0000083	Renal insufficiency	55746	NUP133	OMIM:618177
HP:0000083	Renal insufficiency	4867	NPHP1	OMIM:609583
HP:0000083	Renal insufficiency	4867	NPHP1	OMIM:266900
HP:0000083	Renal insufficiency	4867	NPHP1	OMIM:256100
HP:0000083	Renal insufficiency	4867	NPHP1	ORPHA:3156
HP:0000083	Renal insufficiency	91147	TMEM67	OMIM:216360
HP:0000083	Renal insufficiency	91147	TMEM67	ORPHA:84081
HP:0000083	Renal insufficiency	91147	TMEM67	OMIM:613550
HP:0000083	Renal insufficiency	91147	TMEM67	OMIM:610688
HP:0000083	Renal insufficiency	4210	MEFV	OMIM:249100
HP:0000083	Renal insufficiency	396	ARHGDIA	OMIM:615244
HP:0000083	Renal insufficiency	396	ARHGDIA	ORPHA:656
HP:0000083	Renal insufficiency	1184	CLCN5	OMIM:300009
HP:0000083	Renal insufficiency	10677	AVIL	OMIM:618594
HP:0000083	Renal insufficiency	137682	NDUFAF6	OMIM:618913
HP:0000083	Renal insufficiency	137682	NDUFAF6	ORPHA:3337
HP:0000083	Renal insufficiency	23322	RPGRIP1L	OMIM:611560
HP:0000083	Renal insufficiency	23322	RPGRIP1L	OMIM:619113
HP:0000083	Renal insufficiency	10847	SRCAP	ORPHA:2044
HP:0000083	Renal insufficiency	84520	GON7	OMIM:619603
HP:0000083	Renal insufficiency	51473	DCDC2	OMIM:616217
HP:0000083	Renal insufficiency	51473	DCDC2	ORPHA:84081
HP:0000083	Renal insufficiency	1287	COL4A5	OMIM:301050
HP:0000083	Renal insufficiency	1287	COL4A5	ORPHA:1018
HP:0000083	Renal insufficiency	977	CD151	OMIM:609057
HP:0000083	Renal insufficiency	79693	YRDC	OMIM:619609
HP:0000083	Renal insufficiency	2542	SLC37A4	ORPHA:79259
HP:0000083	Renal insufficiency	4868	NPHS1	ORPHA:656
HP:0000083	Renal insufficiency	23607	CD2AP	ORPHA:656
HP:0000083	Renal insufficiency	9688	NUP93	ORPHA:656
HP:0000083	Renal insufficiency	9688	NUP93	OMIM:616892
HP:0000083	Renal insufficiency	4643	MYO1E	ORPHA:656
HP:0000083	Renal insufficiency	4643	MYO1E	OMIM:614131
HP:0000083	Renal insufficiency	64423	INF2	ORPHA:656
HP:0000083	Renal insufficiency	64423	INF2	OMIM:613237
HP:0000083	Renal insufficiency	64423	INF2	OMIM:614455
HP:0000083	Renal insufficiency	26130	GAPVD1	ORPHA:656
HP:0000083	Renal insufficiency	7490	WT1	ORPHA:656
HP:0000083	Renal insufficiency	7490	WT1	OMIM:194080
HP:0000083	Renal insufficiency	7490	WT1	OMIM:136680
HP:0000083	Renal insufficiency	51479	ANKFY1	ORPHA:656
HP:0000083	Renal insufficiency	54443	ANLN	ORPHA:656
HP:0000083	Renal insufficiency	54443	ANLN	OMIM:616032
HP:0000083	Renal insufficiency	5800	PTPRO	ORPHA:656
HP:0000083	Renal insufficiency	5800	PTPRO	OMIM:614196
HP:0000083	Renal insufficiency	286204	CRB2	ORPHA:656
HP:0000083	Renal insufficiency	23165	NUP205	ORPHA:656
HP:0000083	Renal insufficiency	23165	NUP205	OMIM:616893
HP:0000083	Renal insufficiency	2013	EMP2	ORPHA:656
HP:0000083	Renal insufficiency	79023	NUP37	ORPHA:656
HP:0000083	Renal insufficiency	51196	PLCE1	ORPHA:656
HP:0000083	Renal insufficiency	51196	PLCE1	OMIM:610725
HP:0000083	Renal insufficiency	79902	NUP85	ORPHA:656
HP:0000083	Renal insufficiency	79902	NUP85	OMIM:618176
HP:0000083	Renal insufficiency	1285	COL4A3	ORPHA:656
HP:0000083	Renal insufficiency	1285	COL4A3	OMIM:203780
HP:0000083	Renal insufficiency	1285	COL4A3	OMIM:104200
HP:0000083	Renal insufficiency	79934	COQ8B	ORPHA:656
HP:0000083	Renal insufficiency	79934	COQ8B	OMIM:615573
HP:0000083	Renal insufficiency	23279	NUP160	ORPHA:656
HP:0000083	Renal insufficiency	9863	MAGI2	ORPHA:656
HP:0000083	Renal insufficiency	9863	MAGI2	OMIM:617609
HP:0000083	Renal insufficiency	81	ACTN4	ORPHA:656
HP:0000083	Renal insufficiency	81	ACTN4	OMIM:603278
HP:0000083	Renal insufficiency	7225	TRPC6	ORPHA:656
HP:0000083	Renal insufficiency	7225	TRPC6	OMIM:603965
HP:0000083	Renal insufficiency	8542	APOL1	ORPHA:656
HP:0000083	Renal insufficiency	8542	APOL1	OMIM:612551
HP:0000083	Renal insufficiency	54885	TBC1D8B	ORPHA:656
HP:0000083	Renal insufficiency	54885	TBC1D8B	OMIM:301028
HP:0000083	Renal insufficiency	7827	NPHS2	ORPHA:656
HP:0000083	Renal insufficiency	7827	NPHS2	OMIM:600995
HP:0000083	Renal insufficiency	83478	ARHGAP24	ORPHA:656
HP:0000083	Renal insufficiency	23500	DAAM2	ORPHA:656
HP:0000083	Renal insufficiency	5076	PAX2	ORPHA:656
HP:0000083	Renal insufficiency	5076	PAX2	OMIM:616002
HP:0000083	Renal insufficiency	5076	PAX2	OMIM:120330
HP:0000083	Renal insufficiency	23193	GANAB	ORPHA:730
HP:0000083	Renal insufficiency	5310	PKD1	ORPHA:730
HP:0000083	Renal insufficiency	5311	PKD2	ORPHA:730
HP:0000083	Renal insufficiency	5311	PKD2	OMIM:613095
HP:0000083	Renal insufficiency	29880	ALG5	ORPHA:730
HP:0000083	Renal insufficiency	29880	ALG5	OMIM:620056
HP:0000083	Renal insufficiency	79796	ALG9	ORPHA:730
HP:0000083	Renal insufficiency	80114	BICC1	ORPHA:730
HP:0000083	Renal insufficiency	23005	MAPKBP1	OMIM:617271
HP:0000083	Renal insufficiency	3911	LAMA5	OMIM:620049
HP:0000083	Renal insufficiency	26146	TRAF3IP1	OMIM:616629
HP:0000083	Renal insufficiency	26146	TRAF3IP1	ORPHA:3156
HP:0000083	Renal insufficiency	3913	LAMB2	OMIM:609049
HP:0000083	Renal insufficiency	3913	LAMB2	OMIM:614199
HP:0000083	Renal insufficiency	4594	MMUT	OMIM:251000
HP:0000083	Renal insufficiency	55764	IFT122	OMIM:218330
HP:0000083	Renal insufficiency	25778	DSTYK	OMIM:610805
HP:0000083	Renal insufficiency	54806	AHI1	OMIM:608629
HP:0000083	Renal insufficiency	9056	SLC7A7	OMIM:222700
HP:0000083	Renal insufficiency	55863	TMEM126B	OMIM:618250
HP:0000083	Renal insufficiency	27031	NPHP3	OMIM:267010
HP:0000083	Renal insufficiency	27031	NPHP3	OMIM:604387
HP:0000083	Renal insufficiency	27031	NPHP3	OMIM:208540
HP:0000083	Renal insufficiency	27031	NPHP3	ORPHA:3156
HP:0000083	Renal insufficiency	203286	ANKS6	OMIM:615382
HP:0000083	Renal insufficiency	254428	SLC41A1	OMIM:619468
HP:0000083	Renal insufficiency	149461	CLDN19	OMIM:248190
HP:0000083	Renal insufficiency	4582	MUC1	OMIM:174000
HP:0000083	Renal insufficiency	55644	OSGEP	OMIM:617729
HP:0000083	Renal insufficiency	27130	INVS	OMIM:602088
HP:0000083	Renal insufficiency	27130	INVS	ORPHA:3156
HP:0000083	Renal insufficiency	7840	ALMS1	ORPHA:64
HP:0000083	Renal insufficiency	10269	ZMPSTE24	OMIM:608612
HP:0000083	Renal insufficiency	112858	TP53RK	OMIM:617730
HP:0000083	Renal insufficiency	8879	SGPL1	OMIM:617575
HP:0000083	Renal insufficiency	8270	LAGE3	OMIM:301006
HP:0000083	Renal insufficiency	57545	CC2D2A	OMIM:612285
HP:0000083	Renal insufficiency	975	CD81	OMIM:613496
HP:0000083	Renal insufficiency	1286	COL4A4	OMIM:203780
HP:0000083	Renal insufficiency	51002	TPRKB	OMIM:617731
HP:0000083	Renal insufficiency	5580	PRKCD	OMIM:615559
HP:0000083	Renal insufficiency	54796	BNC2	ORPHA:93110
HP:0000083	Renal insufficiency	4952	OCRL	OMIM:309000
HP:0000083	Renal insufficiency	79809	TTC21B	OMIM:613819
HP:0000083	Renal insufficiency	79809	TTC21B	OMIM:613820
HP:0000083	Renal insufficiency	189	AGXT	ORPHA:93598
HP:0000083	Renal insufficiency	2335	FN1	OMIM:601894
HP:0000083	Renal insufficiency	100147744	RNU7-1	OMIM:619487
HP:0000083	Renal insufficiency	2934	GSN	ORPHA:85448
HP:0000083	Renal insufficiency	50485	SMARCAL1	ORPHA:1830
HP:0000083	Renal insufficiency	50485	SMARCAL1	OMIM:242900
HP:0000083	Renal insufficiency	182	JAG1	OMIM:118450
HP:0000083	Renal insufficiency	10253	SPRY2	OMIM:616818
HP:0000083	Renal insufficiency	284086	NEK8	OMIM:613824
HP:0000083	Renal insufficiency	93649	MYOCD	OMIM:618719
HP:0000083	Renal insufficiency	9657	IQCB1	OMIM:609254
HP:0000083	Renal insufficiency	9657	IQCB1	ORPHA:3156
HP:0000083	Renal insufficiency	1962	EHHADH	ORPHA:3337
HP:0000083	Renal insufficiency	2628	GATM	ORPHA:3337
HP:0000083	Renal insufficiency	6569	SLC34A1	ORPHA:3337
HP:0000083	Renal insufficiency	5889	RAD51C	OMIM:613390
HP:0000083	Renal insufficiency	79989	IFT56	OMIM:619534
HP:0000083	Renal insufficiency	50484	RRM2B	OMIM:268315
HP:0000083	Renal insufficiency	57728	WDR19	OMIM:616307
HP:0000083	Renal insufficiency	57728	WDR19	OMIM:614378
HP:0000083	Renal insufficiency	57728	WDR19	OMIM:614376
HP:0000083	Renal insufficiency	57728	WDR19	OMIM:614377
HP:0000083	Renal insufficiency	57728	WDR19	ORPHA:3156
HP:0000083	Renal insufficiency	63929	XPNPEP3	OMIM:613159
HP:0000083	Renal insufficiency	3458	IFNG	ORPHA:805
HP:0000083	Renal insufficiency	7248	TSC1	ORPHA:805
HP:0000083	Renal insufficiency	7249	TSC2	ORPHA:805
HP:0000083	Renal insufficiency	84662	GLIS2	OMIM:611498
HP:0000083	Renal insufficiency	1376	CPT2	ORPHA:228302
HP:0000083	Renal insufficiency	64127	NOD2	ORPHA:90340
HP:0000083	Renal insufficiency	81494	CFHR5	OMIM:614809
HP:0000083	Renal insufficiency	79583	TMEM231	ORPHA:2752
HP:0000083	Renal insufficiency	112752	IFT43	OMIM:614099
HP:0000083	Renal insufficiency	51004	COQ6	OMIM:614650
HP:0000083	Renal insufficiency	51134	CEP83	OMIM:615862
HP:0000083	Renal insufficiency	9935	MAFB	OMIM:166300
HP:0000083	Renal insufficiency	22897	CEP164	ORPHA:3156
HP:0000083	Renal insufficiency	22909	FAN1	OMIM:614817
HP:0000083	Renal insufficiency	1288	COL4A6	ORPHA:1018
HP:0000083	Renal insufficiency	2639	GCDH	ORPHA:25
HP:0000083	Renal insufficiency	25970	SH2B1	ORPHA:261222
HP:0000083	Renal insufficiency	5972	REN	OMIM:613092
HP:0000083	Renal insufficiency	29927	SEC61A1	OMIM:617056
HP:0000083	Renal insufficiency	374879	ZNF699	OMIM:619488
HP:0000083	Renal insufficiency	8942	KYNU	OMIM:617661
HP:0000083	Renal insufficiency	10686	CLDN16	OMIM:248250
HP:0000083	Renal insufficiency	3190	HNRNPK	OMIM:616580
HP:0000083	Renal insufficiency	83480	PUS3	ORPHA:488627
HP:0000083	Renal insufficiency	4914	NTRK1	ORPHA:642
HP:0000083	Renal insufficiency	5498	PPOX	ORPHA:79473
HP:0000083	Renal insufficiency	54938	SARS2	OMIM:613845
HP:0000083	Renal insufficiency	567	B2M	ORPHA:314652
HP:0000083	Renal insufficiency	54	ACP5	ORPHA:1855
HP:0000083	Renal insufficiency	91461	PKDCC	OMIM:618821
HP:0000083	Renal insufficiency	1136	CHRNA3	OMIM:191800
HP:0000083	Renal insufficiency	6522	SLC4A2	OMIM:620366
HP:0000083	Renal insufficiency	5442	POLRMT	OMIM:619743
HP:0004724	Calcium nephrolithiasis	10568	SLC34A2	ORPHA:60025
HP:0004724	Calcium nephrolithiasis	142680	SLC34A3	OMIM:241530
HP:0004724	Calcium nephrolithiasis	10861	SLC26A1	OMIM:167030
HP:0004724	Calcium nephrolithiasis	26873	OPLAH	OMIM:260005
HP:0004724	Calcium nephrolithiasis	189	AGXT	OMIM:259900
HP:0004724	Calcium nephrolithiasis	55811	ADCY10	ORPHA:2197
HP:0004724	Calcium nephrolithiasis	55811	ADCY10	OMIM:143870
HP:0004724	Calcium nephrolithiasis	9380	GRHPR	OMIM:260000
HP:0004724	Calcium nephrolithiasis	51256	TBC1D7	OMIM:248000
HP:0004724	Calcium nephrolithiasis	112817	HOGA1	OMIM:613616
HP:0004724	Calcium nephrolithiasis	112817	HOGA1	ORPHA:93600
HP:0004724	Calcium nephrolithiasis	153201	SLC36A2	OMIM:138500
HP:0004742	Abnormal renal collecting system morphology	8036	SHOC2	OMIM:607721
HP:0004742	Abnormal renal collecting system morphology	2177	FANCD2	OMIM:227646
HP:0004742	Abnormal renal collecting system morphology	3376	IARS1	OMIM:617093
HP:0004742	Abnormal renal collecting system morphology	3376	IARS1	ORPHA:541423
HP:0004742	Abnormal renal collecting system morphology	2176	FANCC	OMIM:227645
HP:0004742	Abnormal renal collecting system morphology	23126	POGZ	OMIM:616364
HP:0004742	Abnormal renal collecting system morphology	23126	POGZ	ORPHA:468678
HP:0004742	Abnormal renal collecting system morphology	9487	PIGL	OMIM:280000
HP:0004742	Abnormal renal collecting system morphology	9894	TELO2	ORPHA:488642
HP:0004742	Abnormal renal collecting system morphology	8626	TP63	OMIM:604292
HP:0004742	Abnormal renal collecting system morphology	55593	OTUD5	OMIM:301056
HP:0004742	Abnormal renal collecting system morphology	80781	COL18A1	OMIM:267750
HP:0004742	Abnormal renal collecting system morphology	3909	LAMA3	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	3918	LAMC2	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	3914	LAMB3	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	1717	DHCR7	OMIM:270400
HP:0004742	Abnormal renal collecting system morphology	5700	PSMC1	OMIM:620071
HP:0004742	Abnormal renal collecting system morphology	2178	FANCE	OMIM:600901
HP:0004742	Abnormal renal collecting system morphology	5594	MAPK1	OMIM:619087
HP:0004742	Abnormal renal collecting system morphology	5277	PIGA	OMIM:300868
HP:0004742	Abnormal renal collecting system morphology	2175	FANCA	OMIM:227650
HP:0004742	Abnormal renal collecting system morphology	7148	TNXB	OMIM:615963
HP:0004742	Abnormal renal collecting system morphology	8085	KMT2D	ORPHA:2322
HP:0004742	Abnormal renal collecting system morphology	7403	KDM6A	ORPHA:2322
HP:0004742	Abnormal renal collecting system morphology	182	JAG1	OMIM:118450
HP:0004742	Abnormal renal collecting system morphology	23556	PIGN	ORPHA:280633
HP:0004742	Abnormal renal collecting system morphology	25914	RTTN	ORPHA:468631
HP:0004742	Abnormal renal collecting system morphology	2138	EYA1	OMIM:113650
HP:0004742	Abnormal renal collecting system morphology	6495	SIX1	OMIM:113650
HP:0004742	Abnormal renal collecting system morphology	8802	SUCLG1	ORPHA:17
HP:0004742	Abnormal renal collecting system morphology	84992	PIGY	OMIM:616809
HP:0004732	Impaired renal uric acid clearance	4582	MUC1	OMIM:174000
HP:0004734	Renal cortical microcysts	5828	PEX2	OMIM:614866
HP:0004734	Renal cortical microcysts	284086	NEK8	OMIM:613824
HP:0004734	Renal cortical microcysts	27130	INVS	OMIM:602088
HP:0004734	Renal cortical microcysts	5189	PEX1	OMIM:214100
HP:0004734	Renal cortical microcysts	9652	SKIC3	OMIM:222470
HP:0004736	Crossed fused renal ectopia	10682	EBP	OMIM:300960
HP:0004736	Crossed fused renal ectopia	7490	WT1	ORPHA:3097
HP:0004736	Crossed fused renal ectopia	83479	DDX59	ORPHA:2919
HP:0004736	Crossed fused renal ectopia	9578	CDC42BPB	OMIM:619841
HP:0004736	Crossed fused renal ectopia	51339	DACT1	OMIM:617466
HP:0004736	Crossed fused renal ectopia	348180	CTU2	OMIM:618142
HP:0004736	Crossed fused renal ectopia	92002	CCNQ	OMIM:300707
HP:0004736	Crossed fused renal ectopia	8085	KMT2D	ORPHA:2322
HP:0004736	Crossed fused renal ectopia	8085	KMT2D	OMIM:147920
HP:0004736	Crossed fused renal ectopia	7403	KDM6A	ORPHA:2322
HP:0004736	Crossed fused renal ectopia	7403	KDM6A	OMIM:147920
HP:0004736	Crossed fused renal ectopia	57167	SALL4	ORPHA:959
HP:0004736	Crossed fused renal ectopia	57167	SALL4	OMIM:607323
HP:0004736	Crossed fused renal ectopia	4038	LRP4	ORPHA:3258
HP:0004736	Crossed fused renal ectopia	324	APC	ORPHA:3258
HP:0004737	Global glomerulosclerosis	57728	WDR19	OMIM:614377
HP:0004737	Global glomerulosclerosis	57728	WDR19	OMIM:616307
HP:0004737	Global glomerulosclerosis	7809	BSND	OMIM:602522
HP:0004737	Global glomerulosclerosis	8260	NAA10	OMIM:300855
HP:0004743	Chronic tubulointerstitial nephritis	57728	WDR19	OMIM:614376
HP:0004743	Chronic tubulointerstitial nephritis	27130	INVS	OMIM:602088
HP:0004746	Glomerular subendothelial electron-dense deposits	3075	CFH	OMIM:609814
HP:0004746	Glomerular subendothelial electron-dense deposits	81494	CFHR5	OMIM:614809
HP:0000097	Focal segmental glomerulosclerosis	7225	TRPC6	OMIM:603965
HP:0000097	Focal segmental glomerulosclerosis	7225	TRPC6	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4558	MT-TF	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4572	MT-TQ	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4512	MT-CO1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4513	MT-CO2	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4514	MT-CO3	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4578	MT-TW	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4540	MT-ND5	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4541	MT-ND6	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4535	MT-ND1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4538	MT-ND4	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4567	MT-TL1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4574	MT-TS1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4575	MT-TS2	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4564	MT-TH	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	5972	REN	OMIM:613092
HP:0000097	Focal segmental glomerulosclerosis	112858	TP53RK	OMIM:617730
HP:0000097	Focal segmental glomerulosclerosis	8879	SGPL1	OMIM:617575
HP:0000097	Focal segmental glomerulosclerosis	8270	LAGE3	OMIM:301006
HP:0000097	Focal segmental glomerulosclerosis	5076	PAX2	OMIM:616002
HP:0000097	Focal segmental glomerulosclerosis	5076	PAX2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	29927	SEC61A1	OMIM:617056
HP:0000097	Focal segmental glomerulosclerosis	51002	TPRKB	OMIM:617731
HP:0000097	Focal segmental glomerulosclerosis	10785	WDR4	OMIM:618347
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	OMIM:618348
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	OMIM:616730
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	OMIM:618349
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	OMIM:618177
HP:0000097	Focal segmental glomerulosclerosis	84942	WDR73	OMIM:251300
HP:0000097	Focal segmental glomerulosclerosis	3675	ITGA3	OMIM:614748
HP:0000097	Focal segmental glomerulosclerosis	1184	CLCN5	OMIM:308990
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	ORPHA:347
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:256370
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:194080
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:136680
HP:0000097	Focal segmental glomerulosclerosis	2542	SLC37A4	OMIM:232220
HP:0000097	Focal segmental glomerulosclerosis	2542	SLC37A4	OMIM:232240
HP:0000097	Focal segmental glomerulosclerosis	81	ACTN4	OMIM:603278
HP:0000097	Focal segmental glomerulosclerosis	81	ACTN4	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23607	CD2AP	OMIM:607832
HP:0000097	Focal segmental glomerulosclerosis	23607	CD2AP	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55243	KIRREL1	OMIM:619201
HP:0000097	Focal segmental glomerulosclerosis	10651	MTX2	OMIM:619127
HP:0000097	Focal segmental glomerulosclerosis	23165	NUP205	OMIM:616893
HP:0000097	Focal segmental glomerulosclerosis	23165	NUP205	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	9688	NUP93	OMIM:616892
HP:0000097	Focal segmental glomerulosclerosis	9688	NUP93	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	5800	PTPRO	OMIM:614196
HP:0000097	Focal segmental glomerulosclerosis	5800	PTPRO	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	50485	SMARCAL1	ORPHA:1830
HP:0000097	Focal segmental glomerulosclerosis	50485	SMARCAL1	OMIM:242900
HP:0000097	Focal segmental glomerulosclerosis	65082	VPS33A	OMIM:617303
HP:0000097	Focal segmental glomerulosclerosis	182	JAG1	OMIM:118450
HP:0000097	Focal segmental glomerulosclerosis	84520	GON7	OMIM:619603
HP:0000097	Focal segmental glomerulosclerosis	4010	LMX1B	OMIM:256020
HP:0000097	Focal segmental glomerulosclerosis	4868	NPHS1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4643	MYO1E	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4643	MYO1E	OMIM:614131
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	OMIM:613237
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	OMIM:614455
HP:0000097	Focal segmental glomerulosclerosis	26130	GAPVD1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51479	ANKFY1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54443	ANLN	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54443	ANLN	OMIM:616032
HP:0000097	Focal segmental glomerulosclerosis	286204	CRB2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	286204	CRB2	OMIM:616220
HP:0000097	Focal segmental glomerulosclerosis	2013	EMP2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79023	NUP37	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51196	PLCE1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51196	PLCE1	OMIM:610725
HP:0000097	Focal segmental glomerulosclerosis	79902	NUP85	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79902	NUP85	OMIM:618176
HP:0000097	Focal segmental glomerulosclerosis	1285	COL4A3	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	396	ARHGDIA	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79934	COQ8B	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79934	COQ8B	OMIM:615573
HP:0000097	Focal segmental glomerulosclerosis	23279	NUP160	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23279	NUP160	OMIM:618178
HP:0000097	Focal segmental glomerulosclerosis	9863	MAGI2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	8542	APOL1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	8542	APOL1	OMIM:612551
HP:0000097	Focal segmental glomerulosclerosis	54885	TBC1D8B	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54885	TBC1D8B	OMIM:301028
HP:0000097	Focal segmental glomerulosclerosis	7827	NPHS2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	7827	NPHS2	OMIM:600995
HP:0000097	Focal segmental glomerulosclerosis	83478	ARHGAP24	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23500	DAAM2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23500	DAAM2	OMIM:619263
HP:0000097	Focal segmental glomerulosclerosis	27235	COQ2	OMIM:607426
HP:0000097	Focal segmental glomerulosclerosis	2538	G6PC1	OMIM:232200
HP:0000097	Focal segmental glomerulosclerosis	3911	LAMA5	OMIM:620049
HP:0000097	Focal segmental glomerulosclerosis	51004	COQ6	OMIM:614650
HP:0000097	Focal segmental glomerulosclerosis	79731	NARS2	OMIM:616239
HP:0000097	Focal segmental glomerulosclerosis	950	SCARB2	OMIM:254900
HP:0000097	Focal segmental glomerulosclerosis	1188	CLCNKB	ORPHA:358
HP:0000097	Focal segmental glomerulosclerosis	6559	SLC12A3	ORPHA:358
HP:0000090	Nephronophthisis	55112	DYNC2I1	ORPHA:474
HP:0000090	Nephronophthisis	26160	IFT172	ORPHA:474
HP:0000090	Nephronophthisis	26160	IFT172	OMIM:615630
HP:0000090	Nephronophthisis	153241	CEP120	ORPHA:474
HP:0000090	Nephronophthisis	57560	IFT80	ORPHA:474
HP:0000090	Nephronophthisis	51626	DYNC2LI1	ORPHA:474
HP:0000090	Nephronophthisis	79659	DYNC2H1	ORPHA:474
HP:0000090	Nephronophthisis	9742	IFT140	ORPHA:474
HP:0000090	Nephronophthisis	9742	IFT140	OMIM:266920
HP:0000090	Nephronophthisis	57728	WDR19	ORPHA:474
HP:0000090	Nephronophthisis	57728	WDR19	OMIM:616307
HP:0000090	Nephronophthisis	57728	WDR19	OMIM:614377
HP:0000090	Nephronophthisis	57728	WDR19	ORPHA:3156
HP:0000090	Nephronophthisis	89891	DYNC2I2	ORPHA:474
HP:0000090	Nephronophthisis	79809	TTC21B	ORPHA:474
HP:0000090	Nephronophthisis	79809	TTC21B	OMIM:613820
HP:0000090	Nephronophthisis	261734	NPHP4	OMIM:606996
HP:0000090	Nephronophthisis	261734	NPHP4	OMIM:606966
HP:0000090	Nephronophthisis	261734	NPHP4	ORPHA:3156
HP:0000090	Nephronophthisis	23005	MAPKBP1	OMIM:617271
HP:0000090	Nephronophthisis	23322	RPGRIP1L	OMIM:619113
HP:0000090	Nephronophthisis	23322	RPGRIP1L	OMIM:611560
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:613550
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:610688
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:602152
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:216360
HP:0000090	Nephronophthisis	91147	TMEM67	ORPHA:140976
HP:0000090	Nephronophthisis	95681	CEP41	OMIM:614464
HP:0000090	Nephronophthisis	51524	TMEM138	OMIM:614465
HP:0000090	Nephronophthisis	80184	CEP290	OMIM:610188
HP:0000090	Nephronophthisis	80184	CEP290	ORPHA:3156
HP:0000090	Nephronophthisis	23090	ZNF423	OMIM:614844
HP:0000090	Nephronophthisis	63929	XPNPEP3	OMIM:613159
HP:0000090	Nephronophthisis	22897	CEP164	OMIM:614845
HP:0000090	Nephronophthisis	22897	CEP164	ORPHA:3156
HP:0000090	Nephronophthisis	84662	GLIS2	OMIM:611498
HP:0000090	Nephronophthisis	51259	TMEM216	OMIM:608091
HP:0000090	Nephronophthisis	10806	SDCCAG8	OMIM:613615
HP:0000090	Nephronophthisis	10806	SDCCAG8	ORPHA:3156
HP:0000090	Nephronophthisis	26146	TRAF3IP1	OMIM:616629
HP:0000090	Nephronophthisis	26146	TRAF3IP1	ORPHA:3156
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:609583
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:266900
HP:0000090	Nephronophthisis	4867	NPHP1	ORPHA:3156
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:256100
HP:0000090	Nephronophthisis	54806	AHI1	OMIM:608629
HP:0000090	Nephronophthisis	203286	ANKS6	OMIM:615382
HP:0000090	Nephronophthisis	9321	TRIP11	OMIM:184260
HP:0000090	Nephronophthisis	112752	IFT43	OMIM:614099
HP:0000090	Nephronophthisis	51134	CEP83	OMIM:615862
HP:0000090	Nephronophthisis	51473	DCDC2	OMIM:616217
HP:0000090	Nephronophthisis	284086	NEK8	OMIM:613824
HP:0000090	Nephronophthisis	9657	IQCB1	ORPHA:3156
HP:0000090	Nephronophthisis	9657	IQCB1	OMIM:609254
HP:0000090	Nephronophthisis	27130	INVS	ORPHA:3156
HP:0000090	Nephronophthisis	27130	INVS	OMIM:602088
HP:0000090	Nephronophthisis	27031	NPHP3	ORPHA:3156
HP:0000090	Nephronophthisis	27031	NPHP3	OMIM:604387
HP:0000090	Nephronophthisis	22909	FAN1	OMIM:614817
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:601154
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:601144
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:614022
HP:0004749	Atrial flutter	7092	TLL1	ORPHA:99103
HP:0004749	Atrial flutter	7092	TLL1	ORPHA:99106
HP:0004749	Atrial flutter	57057	TBX20	ORPHA:99103
HP:0004749	Atrial flutter	4624	MYH6	ORPHA:99103
HP:0004749	Atrial flutter	1482	NKX2-5	ORPHA:99103
HP:0004749	Atrial flutter	70	ACTC1	ORPHA:99103
HP:0004749	Atrial flutter	70	ACTC1	OMIM:612098
HP:0004749	Atrial flutter	10370	CITED2	ORPHA:99103
HP:0004749	Atrial flutter	10370	CITED2	ORPHA:99105
HP:0004749	Atrial flutter	2626	GATA4	ORPHA:99103
HP:0004749	Atrial flutter	2627	GATA6	ORPHA:99103
HP:0004749	Atrial flutter	1193	CLIC2	ORPHA:324410
HP:0004749	Atrial flutter	151648	SGO1	OMIM:616201
HP:0004749	Atrial flutter	4000	LMNA	ORPHA:300751
HP:0004749	Atrial flutter	4000	LMNA	OMIM:115200
HP:0004749	Atrial flutter	9631	NUP155	OMIM:615770
HP:0004749	Atrial flutter	55800	SCN3B	OMIM:613120
HP:0004749	Atrial flutter	51086	TNNI3K	OMIM:616117
HP:0004749	Atrial flutter	3777	KCNK3	OMIM:615344
HP:0004749	Atrial flutter	4519	MT-CYB	ORPHA:137675
HP:0004749	Atrial flutter	51422	PRKAG2	OMIM:194200
HP:0004749	Atrial flutter	1760	DMPK	OMIM:160900
HP:0004754	Permanent atrial fibrillation	3762	KCNJ5	OMIM:613485
HP:0004754	Permanent atrial fibrillation	3759	KCNJ2	OMIM:613980
HP:0004754	Permanent atrial fibrillation	4635	MYL4	OMIM:617280
HP:0004754	Permanent atrial fibrillation	3784	KCNQ1	OMIM:607554
HP:0004754	Permanent atrial fibrillation	6331	SCN5A	OMIM:614022
HP:0004754	Permanent atrial fibrillation	2318	FLNC	OMIM:617047
HP:0004754	Permanent atrial fibrillation	9992	KCNE2	OMIM:611493
HP:0004754	Permanent atrial fibrillation	55800	SCN3B	OMIM:613120
HP:0004754	Permanent atrial fibrillation	3741	KCNA5	OMIM:612240
HP:0004755	Supraventricular tachycardia	284252	KCTD1	OMIM:181270
HP:0004755	Supraventricular tachycardia	7092	TLL1	ORPHA:99103
HP:0004755	Supraventricular tachycardia	57057	TBX20	ORPHA:99103
HP:0004755	Supraventricular tachycardia	4624	MYH6	ORPHA:99103
HP:0004755	Supraventricular tachycardia	1482	NKX2-5	ORPHA:99103
HP:0004755	Supraventricular tachycardia	70	ACTC1	ORPHA:99103
HP:0004755	Supraventricular tachycardia	2626	GATA4	ORPHA:99103
HP:0004755	Supraventricular tachycardia	2627	GATA6	ORPHA:99103
HP:0004755	Supraventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004755	Supraventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004755	Supraventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004755	Supraventricular tachycardia	10021	HCN4	ORPHA:130
HP:0004755	Supraventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004755	Supraventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004755	Supraventricular tachycardia	5318	PKP2	ORPHA:130
HP:0004755	Supraventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004755	Supraventricular tachycardia	10060	ABCC9	ORPHA:130
HP:0004755	Supraventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004755	Supraventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004755	Supraventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004755	Supraventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004755	Supraventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004755	Supraventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004755	Supraventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004755	Supraventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004755	Supraventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004755	Supraventricular tachycardia	775	CACNA1C	ORPHA:130
HP:0004755	Supraventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004755	Supraventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004755	Supraventricular tachycardia	4633	MYL2	OMIM:608758
HP:0004755	Supraventricular tachycardia	4000	LMNA	ORPHA:300751
HP:0004755	Supraventricular tachycardia	9631	NUP155	OMIM:615770
HP:0004755	Supraventricular tachycardia	8260	NAA10	OMIM:300855
HP:0004755	Supraventricular tachycardia	80308	FLAD1	OMIM:255100
HP:0004755	Supraventricular tachycardia	88	ACTN2	OMIM:612158
HP:0004755	Supraventricular tachycardia	779	CACNA1S	ORPHA:423
HP:0004755	Supraventricular tachycardia	6261	RYR1	ORPHA:423
HP:0004755	Supraventricular tachycardia	650	BMP2	OMIM:617877
HP:0004755	Supraventricular tachycardia	51086	TNNI3K	OMIM:616117
HP:0004755	Supraventricular tachycardia	10560	SLC19A2	ORPHA:49827
HP:0004755	Supraventricular tachycardia	161742	SPRED1	ORPHA:137605
HP:0004755	Supraventricular tachycardia	6331	SCN5A	OMIM:601144
HP:0004755	Supraventricular tachycardia	1788	DNMT3A	ORPHA:404443
HP:0004755	Supraventricular tachycardia	4519	MT-CYB	ORPHA:137675
HP:0004755	Supraventricular tachycardia	1349	COX7B	OMIM:309801
HP:0004755	Supraventricular tachycardia	3052	HCCS	OMIM:309801
HP:0004755	Supraventricular tachycardia	54539	NDUFB11	OMIM:309801
HP:0004755	Supraventricular tachycardia	10370	CITED2	ORPHA:99105
HP:0004755	Supraventricular tachycardia	7273	TTN	OMIM:611705
HP:0004756	Ventricular tachycardia	2771	GNAI2	OMIM:192605
HP:0004756	Ventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004756	Ventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004756	Ventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004756	Ventricular tachycardia	10021	HCN4	ORPHA:130
HP:0004756	Ventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004756	Ventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004756	Ventricular tachycardia	5318	PKP2	ORPHA:130
HP:0004756	Ventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004756	Ventricular tachycardia	10060	ABCC9	ORPHA:130
HP:0004756	Ventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004756	Ventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004756	Ventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004756	Ventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004756	Ventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004756	Ventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004756	Ventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004756	Ventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004756	Ventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004756	Ventricular tachycardia	775	CACNA1C	ORPHA:130
HP:0004756	Ventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004756	Ventricular tachycardia	6331	SCN5A	ORPHA:130
HP:0004756	Ventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004756	Ventricular tachycardia	3728	JUP	OMIM:601214
HP:0004756	Ventricular tachycardia	3728	JUP	ORPHA:34217
HP:0004756	Ventricular tachycardia	2992	GYG1	OMIM:613507
HP:0004756	Ventricular tachycardia	442721	LMOD2	OMIM:619897
HP:0004756	Ventricular tachycardia	4633	MYL2	OMIM:608758
HP:0004756	Ventricular tachycardia	3920	LAMP2	OMIM:300257
HP:0004756	Ventricular tachycardia	4624	MYH6	OMIM:613251
HP:0004756	Ventricular tachycardia	54539	NDUFB11	OMIM:300952
HP:0004756	Ventricular tachycardia	8260	NAA10	OMIM:300855
HP:0004756	Ventricular tachycardia	8048	CSRP3	OMIM:612124
HP:0004756	Ventricular tachycardia	4878	NPPA	ORPHA:1344
HP:0004756	Ventricular tachycardia	57158	JPH2	OMIM:613873
HP:0004756	Ventricular tachycardia	4519	MT-CYB	ORPHA:137675
HP:0004756	Ventricular tachycardia	788	SLC25A20	OMIM:212138
HP:0004756	Ventricular tachycardia	788	SLC25A20	ORPHA:159
HP:0004756	Ventricular tachycardia	1000	CDH2	OMIM:618920
HP:0004756	Ventricular tachycardia	801	CALM1	ORPHA:3286
HP:0004756	Ventricular tachycardia	801	CALM1	OMIM:614916
HP:0004756	Ventricular tachycardia	808	CALM3	ORPHA:3286
HP:0004756	Ventricular tachycardia	29119	CTNNA3	OMIM:615616
HP:0004756	Ventricular tachycardia	7168	TPM1	OMIM:611878
HP:0004756	Ventricular tachycardia	51778	MYOZ2	OMIM:613838
HP:0004756	Ventricular tachycardia	779	CACNA1S	ORPHA:423
HP:0004756	Ventricular tachycardia	6261	RYR1	ORPHA:423
HP:0004756	Ventricular tachycardia	37	ACADVL	ORPHA:26793
HP:0004756	Ventricular tachycardia	79188	TMEM43	OMIM:604400
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:605676
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:615821
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:607450
HP:0004756	Ventricular tachycardia	1410	CRYAB	OMIM:615184
HP:0004756	Ventricular tachycardia	1829	DSG2	OMIM:610193
HP:0004756	Ventricular tachycardia	70	ACTC1	OMIM:612098
HP:0004756	Ventricular tachycardia	1376	CPT2	OMIM:600649
HP:0004756	Ventricular tachycardia	6559	SLC12A3	OMIM:263800
HP:0004756	Ventricular tachycardia	128989	TANGO2	OMIM:616878
HP:0004756	Ventricular tachycardia	4625	MYH7	OMIM:613426
HP:0004756	Ventricular tachycardia	9529	BAG5	OMIM:619747
HP:0004756	Ventricular tachycardia	7273	TTN	OMIM:604145
HP:0004756	Ventricular tachycardia	56244	BTNL2	ORPHA:797
HP:0004756	Ventricular tachycardia	3123	HLA-DRB1	ORPHA:797
HP:0004756	Ventricular tachycardia	805	CALM2	OMIM:616249
HP:0004756	Ventricular tachycardia	3762	KCNJ5	ORPHA:37553
HP:0004756	Ventricular tachycardia	3759	KCNJ2	ORPHA:37553
HP:0004756	Ventricular tachycardia	6262	RYR2	OMIM:604772
HP:0004756	Ventricular tachycardia	845	CASQ2	OMIM:604772
HP:0004756	Ventricular tachycardia	10345	TRDN	OMIM:604772
HP:0004756	Ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0004757	Paroxysmal atrial fibrillation	10021	HCN4	OMIM:163800
HP:0004757	Paroxysmal atrial fibrillation	2702	GJA5	OMIM:108770
HP:0004757	Paroxysmal atrial fibrillation	4635	MYL4	OMIM:617280
HP:0004757	Paroxysmal atrial fibrillation	6910	TBX5	ORPHA:392
HP:0004757	Paroxysmal atrial fibrillation	10060	ABCC9	OMIM:614050
HP:0004757	Paroxysmal atrial fibrillation	6331	SCN5A	OMIM:614022
HP:0004757	Paroxysmal atrial fibrillation	9992	KCNE2	OMIM:611493
HP:0004757	Paroxysmal atrial fibrillation	55800	SCN3B	OMIM:613120
HP:0004757	Paroxysmal atrial fibrillation	3741	KCNA5	OMIM:612240
HP:0004757	Paroxysmal atrial fibrillation	2783	GNB2	OMIM:619464
HP:0004757	Paroxysmal atrial fibrillation	6324	SCN1B	OMIM:615377
HP:0004757	Paroxysmal atrial fibrillation	8048	CSRP3	OMIM:612124
HP:0004757	Paroxysmal atrial fibrillation	3759	KCNJ2	OMIM:613980
HP:0004757	Paroxysmal atrial fibrillation	6327	SCN2B	OMIM:615378
HP:0004757	Paroxysmal atrial fibrillation	5350	PLN	OMIM:613874
HP:0004757	Paroxysmal atrial fibrillation	51422	PRKAG2	OMIM:194200
HP:0004757	Paroxysmal atrial fibrillation	4000	LMNA	OMIM:613205
HP:0004757	Paroxysmal atrial fibrillation	29967	LRP12	OMIM:164310
HP:0004757	Paroxysmal atrial fibrillation	3757	KCNH2	OMIM:609620
HP:0004757	Paroxysmal atrial fibrillation	6262	RYR2	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	845	CASQ2	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	10345	TRDN	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	3784	KCNQ1	OMIM:607554
HP:0004758	Effort-induced polymorphic ventricular tachycardia	6262	RYR2	OMIM:604772
HP:0004758	Effort-induced polymorphic ventricular tachycardia	845	CASQ2	OMIM:604772
HP:0004758	Effort-induced polymorphic ventricular tachycardia	10345	TRDN	OMIM:604772
HP:0030601	Abnormal posterior segment imaging	3419	IDH3A	OMIM:619007
HP:0030601	Abnormal posterior segment imaging	57670	KIAA1549	OMIM:618613
HP:0030601	Abnormal posterior segment imaging	9371	KIF3B	OMIM:618955
HP:0030601	Abnormal posterior segment imaging	10283	CWC27	OMIM:250410
HP:0030601	Abnormal posterior segment imaging	94137	RP1L1	OMIM:613587
HP:0030601	Abnormal posterior segment imaging	5373	PMM2	ORPHA:79318
HP:0030601	Abnormal posterior segment imaging	3105	HLA-A	ORPHA:179
HP:0030601	Abnormal posterior segment imaging	23155	CLCC1	OMIM:609913
HP:0030601	Abnormal posterior segment imaging	6533	SLC6A6	OMIM:145350
HP:0030601	Abnormal posterior segment imaging	51095	TRNT1	OMIM:616959
HP:0030601	Abnormal posterior segment imaging	283652	SLC24A5	ORPHA:370097
HP:0030601	Abnormal posterior segment imaging	6017	RLBP1	ORPHA:85128
HP:0030601	Abnormal posterior segment imaging	7123	CLEC3B	OMIM:619977
HP:0030601	Abnormal posterior segment imaging	22926	ATF6	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	5146	PDE6C	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	5149	PDE6H	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	2780	GNAT2	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	1261	CNGA3	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	54714	CNGB3	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	85465	SELENOI	ORPHA:506353
HP:0030601	Abnormal posterior segment imaging	7078	TIMP3	ORPHA:59181
HP:0030601	Abnormal posterior segment imaging	8842	PROM1	OMIM:608051
HP:0030601	Abnormal posterior segment imaging	26121	PRPF31	OMIM:600138
HP:0030601	Abnormal posterior segment imaging	256471	MFSD8	OMIM:616170
HP:0030601	Abnormal posterior segment imaging	10594	PRPF8	OMIM:600059
HP:0030601	Abnormal posterior segment imaging	84839	RAX2	OMIM:620102
HP:0030601	Abnormal posterior segment imaging	26160	IFT172	OMIM:616394
HP:0030601	Abnormal posterior segment imaging	55975	KLHL7	OMIM:612943
HP:0030601	Abnormal posterior segment imaging	326	AIRE	OMIM:240300
HP:0030601	Abnormal posterior segment imaging	23093	TTLL5	OMIM:615860
HP:0030601	Abnormal posterior segment imaging	157657	CFAP418	OMIM:617406
HP:0030601	Abnormal posterior segment imaging	84100	ARL6	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	79140	CCDC28B	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	582	BBS1	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	83723	TLCD3B	OMIM:619531
HP:0030601	Abnormal posterior segment imaging	5961	PRPH2	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	3000	GUCY2D	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	2978	GUCA1A	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	55624	POMGNT1	OMIM:617123
HP:0030601	Abnormal posterior segment imaging	22901	ARSG	OMIM:618144
HP:0030601	Abnormal posterior segment imaging	2202	EFEMP1	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	3075	CFH	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	3426	CFI	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	6103	RPGR	OMIM:304020
HP:0030601	Abnormal posterior segment imaging	55857	KIZ	OMIM:615780
HP:0030609	Photoreceptor layer loss on macular OCT	5373	PMM2	ORPHA:79318
HP:0030609	Photoreceptor layer loss on macular OCT	3105	HLA-A	ORPHA:179
HP:0030609	Photoreceptor layer loss on macular OCT	23155	CLCC1	OMIM:609913
HP:0030609	Photoreceptor layer loss on macular OCT	6533	SLC6A6	OMIM:145350
HP:0030609	Photoreceptor layer loss on macular OCT	51095	TRNT1	OMIM:616959
HP:0030604	Abnormal fundus fluorescein angiography	94137	RP1L1	OMIM:613587
HP:0030603	Abnormal optical coherence tomography	5373	PMM2	ORPHA:79318
HP:0030603	Abnormal optical coherence tomography	3105	HLA-A	ORPHA:179
HP:0030603	Abnormal optical coherence tomography	23155	CLCC1	OMIM:609913
HP:0030603	Abnormal optical coherence tomography	6533	SLC6A6	OMIM:145350
HP:0030603	Abnormal optical coherence tomography	51095	TRNT1	OMIM:616959
HP:0030603	Abnormal optical coherence tomography	283652	SLC24A5	ORPHA:370097
HP:0030603	Abnormal optical coherence tomography	5961	PRPH2	ORPHA:75377
HP:0030603	Abnormal optical coherence tomography	3000	GUCY2D	ORPHA:75377
HP:0030603	Abnormal optical coherence tomography	2978	GUCA1A	ORPHA:75377
HP:0030603	Abnormal optical coherence tomography	6017	RLBP1	ORPHA:85128
HP:0030603	Abnormal optical coherence tomography	7123	CLEC3B	OMIM:619977
HP:0030603	Abnormal optical coherence tomography	22926	ATF6	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	5146	PDE6C	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	6103	RPGR	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	5149	PDE6H	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	2780	GNAT2	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	1261	CNGA3	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	54714	CNGB3	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	85465	SELENOI	ORPHA:506353
HP:0030603	Abnormal optical coherence tomography	7078	TIMP3	ORPHA:59181
HP:0030602	Abnormal fundus autofluorescence imaging	3419	IDH3A	OMIM:619007
HP:0030602	Abnormal fundus autofluorescence imaging	57670	KIAA1549	OMIM:618613
HP:0030602	Abnormal fundus autofluorescence imaging	9371	KIF3B	OMIM:618955
HP:0030602	Abnormal fundus autofluorescence imaging	10283	CWC27	OMIM:250410
HP:0030602	Abnormal fundus autofluorescence imaging	7078	TIMP3	ORPHA:59181
HP:0030602	Abnormal fundus autofluorescence imaging	8842	PROM1	OMIM:608051
HP:0030602	Abnormal fundus autofluorescence imaging	26121	PRPF31	OMIM:600138
HP:0030602	Abnormal fundus autofluorescence imaging	256471	MFSD8	OMIM:616170
HP:0030602	Abnormal fundus autofluorescence imaging	10594	PRPF8	OMIM:600059
HP:0030602	Abnormal fundus autofluorescence imaging	84839	RAX2	OMIM:620102
HP:0030602	Abnormal fundus autofluorescence imaging	26160	IFT172	OMIM:616394
HP:0030602	Abnormal fundus autofluorescence imaging	55975	KLHL7	OMIM:612943
HP:0030602	Abnormal fundus autofluorescence imaging	326	AIRE	OMIM:240300
HP:0030602	Abnormal fundus autofluorescence imaging	23093	TTLL5	OMIM:615860
HP:0030602	Abnormal fundus autofluorescence imaging	157657	CFAP418	OMIM:617406
HP:0030602	Abnormal fundus autofluorescence imaging	84100	ARL6	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	79140	CCDC28B	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	582	BBS1	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	83723	TLCD3B	OMIM:619531
HP:0030602	Abnormal fundus autofluorescence imaging	5961	PRPH2	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	3000	GUCY2D	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	2978	GUCA1A	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	55624	POMGNT1	OMIM:617123
HP:0030602	Abnormal fundus autofluorescence imaging	22901	ARSG	OMIM:618144
HP:0030602	Abnormal fundus autofluorescence imaging	2202	EFEMP1	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	3075	CFH	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	3426	CFI	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	6103	RPGR	OMIM:300029
HP:0030602	Abnormal fundus autofluorescence imaging	55857	KIZ	OMIM:615780
HP:0004761	Post-angioplasty coronary artery restenosis	3053	SERPIND1	OMIM:612356
HP:0004762	Hypoplasia of right ventricle	5337	PLD1	OMIM:212093
HP:0004762	Hypoplasia of right ventricle	2627	GATA6	ORPHA:2255
HP:0004762	Hypoplasia of right ventricle	118856	MMP21	OMIM:616749
HP:0004763	Paroxysmal supraventricular tachycardia	650	BMP2	OMIM:617877
HP:0004763	Paroxysmal supraventricular tachycardia	51086	TNNI3K	OMIM:616117
HP:0004763	Paroxysmal supraventricular tachycardia	10560	SLC19A2	ORPHA:49827
HP:0004763	Paroxysmal supraventricular tachycardia	161742	SPRED1	ORPHA:137605
HP:0004764	Myxomatous mitral valve degeneration	51085	MLXIPL	OMIM:194050
HP:0004764	Myxomatous mitral valve degeneration	2006	ELN	OMIM:194050
HP:0004764	Myxomatous mitral valve degeneration	23118	TAB2	OMIM:614980
HP:0004768	Sparse anterior scalp hair	64324	NSD1	ORPHA:821
HP:0004768	Sparse anterior scalp hair	29072	SETD2	ORPHA:821
HP:0004768	Sparse anterior scalp hair	10297	APC2	ORPHA:821
HP:0030612	Abnormal retinal morphology on macular OCT	5373	PMM2	ORPHA:79318
HP:0030612	Abnormal retinal morphology on macular OCT	3105	HLA-A	ORPHA:179
HP:0030612	Abnormal retinal morphology on macular OCT	23155	CLCC1	OMIM:609913
HP:0030612	Abnormal retinal morphology on macular OCT	6533	SLC6A6	OMIM:145350
HP:0030612	Abnormal retinal morphology on macular OCT	51095	TRNT1	OMIM:616959
HP:0030612	Abnormal retinal morphology on macular OCT	283652	SLC24A5	ORPHA:370097
HP:0030612	Abnormal retinal morphology on macular OCT	5961	PRPH2	ORPHA:75377
HP:0030612	Abnormal retinal morphology on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030612	Abnormal retinal morphology on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030612	Abnormal retinal morphology on macular OCT	6017	RLBP1	ORPHA:85128
HP:0030612	Abnormal retinal morphology on macular OCT	7123	CLEC3B	OMIM:619977
HP:0030612	Abnormal retinal morphology on macular OCT	22926	ATF6	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	5146	PDE6C	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	6103	RPGR	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	5149	PDE6H	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	2780	GNAT2	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	1261	CNGA3	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	54714	CNGB3	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	85465	SELENOI	ORPHA:506353
HP:0030612	Abnormal retinal morphology on macular OCT	7078	TIMP3	ORPHA:59181
HP:0030619	Reduced OCT-measured foveal thickness	7123	CLEC3B	OMIM:619977
HP:0030618	Increased OCT-measured foveal thickness	6017	RLBP1	ORPHA:85128
HP:0030617	Abnormal OCT-measured foveal thickness	6017	RLBP1	ORPHA:85128
HP:0030617	Abnormal OCT-measured foveal thickness	7123	CLEC3B	OMIM:619977
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	5961	PRPH2	ORPHA:75377
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	283652	SLC24A5	ORPHA:370097
HP:0030613	Abnormal foveal morphology on macular OCT	5961	PRPH2	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	6017	RLBP1	ORPHA:85128
HP:0030613	Abnormal foveal morphology on macular OCT	7123	CLEC3B	OMIM:619977
HP:0030620	Inner retinal layer loss on macular OCT	22926	ATF6	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	5146	PDE6C	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	6103	RPGR	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	5149	PDE6H	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	2780	GNAT2	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	1261	CNGA3	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	54714	CNGB3	ORPHA:49382
HP:0004771	Premature graying of body hair	25778	DSTYK	OMIM:270750
HP:0004779	Brittle scalp hair	10804	GJB6	ORPHA:189
HP:0004779	Brittle scalp hair	11005	SPINK5	OMIM:256500
HP:0030629	Perifoveal ring of hyperautofluorescence	2202	EFEMP1	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	3075	CFH	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	3426	CFI	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	8842	PROM1	OMIM:608051
HP:0030629	Perifoveal ring of hyperautofluorescence	26121	PRPF31	OMIM:600138
HP:0030629	Perifoveal ring of hyperautofluorescence	256471	MFSD8	OMIM:616170
HP:0030629	Perifoveal ring of hyperautofluorescence	10594	PRPF8	OMIM:600059
HP:0030629	Perifoveal ring of hyperautofluorescence	84839	RAX2	OMIM:620102
HP:0030629	Perifoveal ring of hyperautofluorescence	83723	TLCD3B	OMIM:619531
HP:0030629	Perifoveal ring of hyperautofluorescence	26160	IFT172	OMIM:616394
HP:0030629	Perifoveal ring of hyperautofluorescence	55975	KLHL7	OMIM:612943
HP:0030629	Perifoveal ring of hyperautofluorescence	326	AIRE	OMIM:240300
HP:0030629	Perifoveal ring of hyperautofluorescence	23093	TTLL5	OMIM:615860
HP:0030629	Perifoveal ring of hyperautofluorescence	5961	PRPH2	ORPHA:75377
HP:0030629	Perifoveal ring of hyperautofluorescence	3000	GUCY2D	ORPHA:75377
HP:0030629	Perifoveal ring of hyperautofluorescence	2978	GUCA1A	ORPHA:75377
HP:0030625	Hyporeflective spaces on macular OCT	85465	SELENOI	ORPHA:506353
HP:0030625	Hyporeflective spaces on macular OCT	7078	TIMP3	ORPHA:59181
HP:0004780	Elbow hypertrichosis	283209	PGM2L1	OMIM:620191
HP:0004780	Elbow hypertrichosis	4297	KMT2A	OMIM:605130
HP:0004783	Duodenal polyposis	657	BMPR1A	ORPHA:329971
HP:0004783	Duodenal polyposis	4089	SMAD4	ORPHA:329971
HP:0004783	Duodenal polyposis	2022	ENG	ORPHA:329971
HP:0004783	Duodenal polyposis	324	APC	OMIM:175100
HP:0004783	Duodenal polyposis	324	APC	ORPHA:247806
HP:0004783	Duodenal polyposis	324	APC	ORPHA:261584
HP:0004783	Duodenal polyposis	324	APC	ORPHA:79665
HP:0004783	Duodenal polyposis	4437	MSH3	OMIM:617100
HP:0004784	Juvenile gastrointestinal polyposis	4437	MSH3	ORPHA:480536
HP:0004784	Juvenile gastrointestinal polyposis	4089	SMAD4	OMIM:175050
HP:0004785	Malrotation of colon	7020	TFAP2A	OMIM:113620
HP:0004785	Malrotation of colon	9968	MED12	ORPHA:93932
HP:0004785	Malrotation of colon	25836	NIPBL	OMIM:122470
HP:0004785	Malrotation of colon	2317	FLNB	ORPHA:1190
HP:0004787	Fulminant hepatitis	10068	IL18BP	OMIM:618549
HP:0004787	Fulminant hepatitis	3875	KRT18	OMIM:215600
HP:0004787	Fulminant hepatitis	331	XIAP	OMIM:308240
HP:0004787	Fulminant hepatitis	4068	SH2D1A	OMIM:308240
HP:0004789	Lactose intolerance	2475	MTOR	ORPHA:457485
HP:0004789	Lactose intolerance	5238	PGM3	ORPHA:443811
HP:0004789	Lactose intolerance	6304	SATB1	OMIM:619229
HP:0004789	Lactose intolerance	3938	LCT	OMIM:223000
HP:0004789	Lactose intolerance	4175	MCM6	OMIM:223100
HP:0010202	Duplication of middle phalanx of toe	51715	RAB23	OMIM:201000
HP:0010204	Broad proximal phalanx of toe	2260	FGFR1	OMIM:123150
HP:0010204	Broad proximal phalanx of toe	2263	FGFR2	OMIM:123150
HP:0030632	Hypoautofluorescent macular lesion	2202	EFEMP1	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	3075	CFH	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	3426	CFI	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	6103	RPGR	OMIM:304020
HP:0030631	Hyperautofluorescent macular lesion	2202	EFEMP1	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	3075	CFH	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	3426	CFI	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	157657	CFAP418	OMIM:617406
HP:0030631	Hyperautofluorescent macular lesion	84100	ARL6	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	79140	CCDC28B	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	582	BBS1	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	83723	TLCD3B	OMIM:619531
HP:0030631	Hyperautofluorescent macular lesion	5961	PRPH2	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	3000	GUCY2D	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	2978	GUCA1A	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	55624	POMGNT1	OMIM:617123
HP:0030631	Hyperautofluorescent macular lesion	22901	ARSG	OMIM:618144
HP:0030639	Congenital stationary night blindness with abnormal fundus	4308	TRPM1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	57010	CABP4	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	345193	LRIT3	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	93589	CACNA2D4	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2916	GRM6	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	5158	PDE6B	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	440435	GPR179	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	6011	GRK1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	778	CACNA1F	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	9187	SLC24A1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	6295	SAG	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2784	GNB3	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2779	GNAT1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	60506	NYX	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	5959	RDH5	OMIM:136880
HP:0030639	Congenital stationary night blindness with abnormal fundus	6010	RHO	OMIM:136880
HP:0030639	Congenital stationary night blindness with abnormal fundus	5961	PRPH2	OMIM:136880
HP:0030639	Congenital stationary night blindness with abnormal fundus	6017	RLBP1	OMIM:136880
HP:0030638	Congenital stationary night blindness with normal fundus	4308	TRPM1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	57010	CABP4	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	345193	LRIT3	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	93589	CACNA2D4	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2916	GRM6	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	5158	PDE6B	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	440435	GPR179	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6011	GRK1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	778	CACNA1F	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6010	RHO	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	9187	SLC24A1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6295	SAG	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2784	GNB3	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2779	GNAT1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	60506	NYX	ORPHA:215
HP:0004791	Esophageal ulceration	115908	CTHRC1	OMIM:614266
HP:0004791	Esophageal ulceration	4481	MSR1	OMIM:614266
HP:0004791	Esophageal ulceration	51008	ASCC1	OMIM:614266
HP:0004791	Esophageal ulceration	4312	MMP1	ORPHA:79408
HP:0004791	Esophageal ulceration	1294	COL7A1	ORPHA:79408
HP:0004791	Esophageal ulceration	5321	PLA2G4A	OMIM:618372
HP:0004792	Rectoperineal fistula	1024	CDK8	OMIM:618748
HP:0004792	Rectoperineal fistula	6299	SALL1	OMIM:107480
HP:0004792	Rectoperineal fistula	6299	SALL1	ORPHA:857
HP:0004792	Rectoperineal fistula	51339	DACT1	ORPHA:857
HP:0004794	Malrotation of small bowel	113189	CHST14	ORPHA:2953
HP:0004794	Malrotation of small bowel	29940	DSE	ORPHA:2953
HP:0004794	Malrotation of small bowel	23522	KAT6B	OMIM:606170
HP:0004794	Malrotation of small bowel	54361	WNT4	ORPHA:139466
HP:0004794	Malrotation of small bowel	53834	FGFRL1	OMIM:194190
HP:0004794	Malrotation of small bowel	1487	CTBP1	OMIM:194190
HP:0004794	Malrotation of small bowel	3954	LETM1	OMIM:194190
HP:0004794	Malrotation of small bowel	7468	NSD2	OMIM:194190
HP:0004794	Malrotation of small bowel	10815	CPLX1	OMIM:194190
HP:0004795	Hamartomatous stomach polyps	5727	PTCH1	OMIM:109400
HP:0004796	Gastrointestinal obstruction	91574	MTRFR	ORPHA:254930
HP:0004796	Gastrointestinal obstruction	91574	MTRFR	OMIM:613559
HP:0004796	Gastrointestinal obstruction	2184	FAH	OMIM:276700
HP:0004796	Gastrointestinal obstruction	6535	SLC6A8	OMIM:300352
HP:0004796	Gastrointestinal obstruction	6535	SLC6A8	ORPHA:52503
HP:0004796	Gastrointestinal obstruction	2130	EWSR1	ORPHA:83469
HP:0004796	Gastrointestinal obstruction	7490	WT1	ORPHA:83469
HP:0004796	Gastrointestinal obstruction	50943	FOXP3	ORPHA:37042
HP:0004796	Gastrointestinal obstruction	50943	FOXP3	OMIM:304790
HP:0004796	Gastrointestinal obstruction	284119	CAVIN1	OMIM:613327
HP:0004796	Gastrointestinal obstruction	5498	PPOX	ORPHA:79473
HP:0004796	Gastrointestinal obstruction	3145	HMBS	ORPHA:79276
HP:0004796	Gastrointestinal obstruction	26153	KIF26A	OMIM:620156
HP:0004796	Gastrointestinal obstruction	6572	SLC18A3	OMIM:617239
HP:0004796	Gastrointestinal obstruction	2984	GUCY2C	OMIM:614665
HP:0004796	Gastrointestinal obstruction	6804	STX1A	ORPHA:586
HP:0004796	Gastrointestinal obstruction	2947	GSTM3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	7040	TGFB1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	7040	TGFB1	OMIM:219700
HP:0004796	Gastrointestinal obstruction	2729	GCLC	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1084	CEACAM3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	6556	SLC11A1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	51164	DCTN4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3783	KCNN4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	4282	MIF	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1909	EDNRA	ORPHA:586
HP:0004796	Gastrointestinal obstruction	6550	SLC9A3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3162	HMOX1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	115019	SLC26A9	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3077	HFE	ORPHA:586
HP:0004796	Gastrointestinal obstruction	11254	SLC6A14	ORPHA:586
HP:0004796	Gastrointestinal obstruction	5265	SERPINA1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1080	CFTR	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1080	CFTR	OMIM:219700
HP:0004796	Gastrointestinal obstruction	22802	CLCA4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	4680	CEACAM6	ORPHA:586
HP:0004796	Gastrointestinal obstruction	2212	FCGR2A	OMIM:219700
HP:0004796	Gastrointestinal obstruction	3110	MNX1	OMIM:176450
HP:0004796	Gastrointestinal obstruction	1499	CTNNB1	ORPHA:873
HP:0004796	Gastrointestinal obstruction	324	APC	ORPHA:873
HP:0004796	Gastrointestinal obstruction	4629	MYH11	OMIM:619350
HP:0004796	Gastrointestinal obstruction	4854	NOTCH3	ORPHA:2591
HP:0004796	Gastrointestinal obstruction	5159	PDGFRB	ORPHA:2591
HP:0004796	Gastrointestinal obstruction	6390	SDHB	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	6390	SDHB	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	6390	SDHB	OMIM:606764
HP:0004796	Gastrointestinal obstruction	6391	SDHC	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	6391	SDHC	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	6391	SDHC	OMIM:606764
HP:0004796	Gastrointestinal obstruction	6392	SDHD	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	811	CALR	ORPHA:131
HP:0004796	Gastrointestinal obstruction	3717	JAK2	ORPHA:131
HP:0004796	Gastrointestinal obstruction	2153	F5	ORPHA:131
HP:0004796	Gastrointestinal obstruction	57217	TTC7A	OMIM:243150
HP:0004796	Gastrointestinal obstruction	6389	SDHA	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	5156	PDGFRA	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	3815	KIT	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	3815	KIT	OMIM:606764
HP:0004796	Gastrointestinal obstruction	1493	CTLA4	ORPHA:900
HP:0004796	Gastrointestinal obstruction	26191	PTPN22	ORPHA:900
HP:0004796	Gastrointestinal obstruction	3115	HLA-DPB1	ORPHA:900
HP:0004796	Gastrointestinal obstruction	5657	PRTN3	ORPHA:900
HP:0004796	Gastrointestinal obstruction	3113	HLA-DPA1	ORPHA:900
HP:0004796	Gastrointestinal obstruction	4598	MVK	ORPHA:343
HP:0004796	Gastrointestinal obstruction	2131	EXT1	ORPHA:321
HP:0004796	Gastrointestinal obstruction	2132	EXT2	ORPHA:321
HP:0004796	Gastrointestinal obstruction	4210	MEFV	ORPHA:342
HP:0004796	Gastrointestinal obstruction	4609	MYC	ORPHA:543
HP:0004796	Gastrointestinal obstruction	215	ABCD1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	5979	RET	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2668	GDNF	ORPHA:388
HP:0004796	Gastrointestinal obstruction	6608	SMO	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1889	ECE1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	6720	SREBF1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1908	EDN3	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1908	EDN3	ORPHA:897
HP:0004796	Gastrointestinal obstruction	223117	SEMA3D	ORPHA:388
HP:0004796	Gastrointestinal obstruction	538	ATP7A	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1910	EDNRB	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1910	EDNRB	ORPHA:897
HP:0004796	Gastrointestinal obstruction	10512	SEMA3C	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2064	ERBB2	ORPHA:388
HP:0004796	Gastrointestinal obstruction	4902	NRTN	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2068	ERCC2	OMIM:601675
HP:0004796	Gastrointestinal obstruction	1604	CD55	OMIM:226300
HP:0004796	Gastrointestinal obstruction	3718	JAK3	OMIM:600802
HP:0004796	Gastrointestinal obstruction	64127	NOD2	OMIM:266600
HP:0004796	Gastrointestinal obstruction	3569	IL6	OMIM:266600
HP:0004796	Gastrointestinal obstruction	6905	TBCE	ORPHA:2323
HP:0004796	Gastrointestinal obstruction	6794	STK11	ORPHA:2869
HP:0004796	Gastrointestinal obstruction	7132	TNFRSF1A	ORPHA:32960
HP:0004796	Gastrointestinal obstruction	4286	MITF	ORPHA:897
HP:0004796	Gastrointestinal obstruction	6663	SOX10	ORPHA:897
HP:0004796	Gastrointestinal obstruction	672	BRCA1	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	285282	RABL3	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	7157	TP53	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	675	BRCA2	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	3845	KRAS	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	1029	CDKN2A	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	79728	PALB2	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	4089	SMAD4	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	23022	PALLD	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	2065	ERBB3	OMIM:243180
HP:0004798	Recurrent infection of the gastrointestinal tract	10312	TCIRG1	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	1991	ELANE	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	2672	GFI1	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	6729	SRP54	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	81570	CLPB	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	23495	TNFRSF13B	OMIM:609529
HP:0004798	Recurrent infection of the gastrointestinal tract	25839	COG4	ORPHA:263501
HP:0004798	Recurrent infection of the gastrointestinal tract	25839	COG4	OMIM:613489
HP:0004798	Recurrent infection of the gastrointestinal tract	57379	AICDA	OMIM:605258
HP:0004798	Recurrent infection of the gastrointestinal tract	5994	RFXAP	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	4261	CIITA	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	5993	RFX5	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	8625	RFXANK	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0004798	Recurrent infection of the gastrointestinal tract	11005	SPINK5	OMIM:256500
HP:0004798	Recurrent infection of the gastrointestinal tract	4792	NFKBIA	OMIM:612132
HP:0004798	Recurrent infection of the gastrointestinal tract	50615	IL21R	OMIM:615207
HP:0004798	Recurrent infection of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0004798	Recurrent infection of the gastrointestinal tract	3718	JAK3	ORPHA:35078
HP:0004798	Recurrent infection of the gastrointestinal tract	3459	IFNGR1	OMIM:600263
HP:0004798	Recurrent infection of the gastrointestinal tract	2321	FLT1	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	219736	STOX1	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	10699	CORIN	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0004798	Recurrent infection of the gastrointestinal tract	4791	NFKB2	OMIM:615577
HP:0004798	Recurrent infection of the gastrointestinal tract	30011	SH3KBP1	OMIM:300310
HP:0004798	Recurrent infection of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0004798	Recurrent infection of the gastrointestinal tract	4125	MAN2B1	ORPHA:309282
HP:0004798	Recurrent infection of the gastrointestinal tract	4125	MAN2B1	ORPHA:309288
HP:0004798	Recurrent infection of the gastrointestinal tract	65082	VPS33A	ORPHA:505248
HP:0004798	Recurrent infection of the gastrointestinal tract	64421	DCLRE1C	ORPHA:275
HP:0004798	Recurrent infection of the gastrointestinal tract	113179	ADAT3	ORPHA:363528
HP:0004798	Recurrent infection of the gastrointestinal tract	10379	IRF9	OMIM:618648
HP:0004798	Recurrent infection of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0004798	Recurrent infection of the gastrointestinal tract	916	CD3E	OMIM:615615
HP:0004798	Recurrent infection of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0004798	Recurrent infection of the gastrointestinal tract	3431	SP110	ORPHA:79124
HP:0004798	Recurrent infection of the gastrointestinal tract	55343	SLC35C1	ORPHA:99843
HP:0004798	Recurrent infection of the gastrointestinal tract	6868	ADAM17	ORPHA:294023
HP:0004798	Recurrent infection of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0030644	Blind-spot enlargment	84816	RTN4IP1	OMIM:616732
HP:0030644	Blind-spot enlargment	3105	HLA-A	ORPHA:179
HP:0030644	Blind-spot enlargment	7466	WFS1	OMIM:614296
HP:0010219	Structural foot deformity	4000	LMNA	ORPHA:1662
HP:0010219	Structural foot deformity	10269	ZMPSTE24	ORPHA:1662
HP:0010219	Structural foot deformity	57531	HACE1	ORPHA:464282
HP:0010219	Structural foot deformity	79784	MYH14	ORPHA:397744
HP:0030642	Fundus albipunctatus	5959	RDH5	OMIM:136880
HP:0030642	Fundus albipunctatus	6010	RHO	OMIM:136880
HP:0030642	Fundus albipunctatus	5961	PRPH2	OMIM:136880
HP:0030642	Fundus albipunctatus	6017	RLBP1	OMIM:136880
HP:0000001	All	3910	LAMA4	OMIM:615235
HP:0000001	All	4284	MIP	OMIM:615274
HP:0000001	All	11231	SEC63	OMIM:617004
HP:0000001	All	93166	PRDM6	OMIM:617039
HP:0000001	All	9132	KCNQ4	OMIM:600101
HP:0000001	All	5589	PRKCSH	OMIM:174050
HP:0000001	All	4009	LMX1A	OMIM:601412
HP:0000001	All	4486	MST1R	OMIM:617075
HP:0000001	All	55811	ADCY10	OMIM:143870
HP:0000001	All	4597	MVD	OMIM:614714
HP:0000001	All	7780	SLC30A2	OMIM:608118
HP:0000001	All	8048	CSRP3	OMIM:612124
HP:0000001	All	8048	CSRP3	OMIM:607482
HP:0000001	All	4792	NFKBIA	OMIM:612132
HP:0000001	All	1495	CTNNA1	OMIM:608970
HP:0000001	All	726	CAPN5	OMIM:193235
HP:0000001	All	3026	HABP2	OMIM:616535
HP:0000001	All	3026	HABP2	OMIM:188050
HP:0000001	All	6620	SNCB	OMIM:127750
HP:0000001	All	4835	NQO2	OMIM:114480
HP:0000001	All	5245	PHB1	OMIM:114480
HP:0000001	All	3161	HMMR	OMIM:114480
HP:0000001	All	580	BARD1	OMIM:114480
HP:0000001	All	7517	XRCC3	OMIM:114480
HP:0000001	All	9821	RB1CC1	OMIM:114480
HP:0000001	All	8438	RAD54L	OMIM:114480
HP:0000001	All	1453	CSNK1D	OMIM:615224
HP:0000001	All	25885	POLR1A	OMIM:616462
HP:0000001	All	6934	TCF7L2	OMIM:125853
HP:0000001	All	9479	MAPK8IP1	OMIM:125853
HP:0000001	All	56729	RETN	OMIM:125853
HP:0000001	All	4544	MTNR1B	OMIM:125853
HP:0000001	All	5506	PPP1R3A	OMIM:125853
HP:0000001	All	10644	IGF2BP2	OMIM:125853
HP:0000001	All	5770	PTPN1	OMIM:125853
HP:0000001	All	8660	IRS2	OMIM:125853
HP:0000001	All	3159	HMGA1	OMIM:125853
HP:0000001	All	3667	IRS1	OMIM:125853
HP:0000001	All	169026	SLC30A8	OMIM:125853
HP:0000001	All	2820	GPD2	OMIM:125853
HP:0000001	All	6909	TBX2	OMIM:618223
HP:0000001	All	87	ACTN1	OMIM:615193
HP:0000001	All	2771	GNAI2	OMIM:192605
HP:0000001	All	85366	MYLK2	OMIM:192600
HP:0000001	All	2070	EYA4	OMIM:601316
HP:0000001	All	2070	EYA4	OMIM:605362
HP:0000001	All	55229	PANK4	OMIM:619593
HP:0000001	All	3851	KRT4	OMIM:193900
HP:0000001	All	79755	ZNF750	OMIM:610227
HP:0000001	All	1687	GSDME	OMIM:600994
HP:0000001	All	1427	CRYGS	OMIM:116100
HP:0000001	All	3849	KRT2	OMIM:146800
HP:0000001	All	217	ALDH2	OMIM:610251
HP:0000001	All	283375	SLC39A5	OMIM:615946
HP:0000001	All	83394	PITPNM3	OMIM:600977
HP:0000001	All	8419	BFSP2	OMIM:611597
HP:0000001	All	26022	TMEM98	OMIM:615972
HP:0000001	All	3290	HSD11B1	OMIM:614662
HP:0000001	All	54205	CYCS	OMIM:612004
HP:0000001	All	6731	SRP72	OMIM:614675
HP:0000001	All	3350	HTR1A	OMIM:614674
HP:0000001	All	387700	SLC16A12	OMIM:612018
HP:0000001	All	7784	ZP3	OMIM:617712
HP:0000001	All	8988	HSPB3	OMIM:613376
HP:0000001	All	3716	JAK1	OMIM:618999
HP:0000001	All	9885	OSBPL2	OMIM:616340
HP:0000001	All	1500	CTNND1	OMIM:617681
HP:0000001	All	1428	CRYM	OMIM:616357
HP:0000001	All	7075	TIE1	OMIM:619401
HP:0000001	All	8989	TRPA1	OMIM:615040
HP:0000001	All	22806	IKZF3	OMIM:619437
HP:0000001	All	1747	DLX3	OMIM:190320
HP:0000001	All	1747	DLX3	OMIM:104510
HP:0000001	All	57534	MIB1	OMIM:615092
HP:0000001	All	22852	ANKRD26	OMIM:188000
HP:0000001	All	5137	PDE1C	OMIM:618140
HP:0000001	All	1412	CRYBA2	OMIM:115900
HP:0000001	All	23385	NCSTN	OMIM:142690
HP:0000001	All	3921	RPSA	OMIM:271400
HP:0000001	All	81624	DIAPH3	OMIM:609129
HP:0000001	All	116519	APOA5	OMIM:145750
HP:0000001	All	116519	APOA5	OMIM:144650
HP:0000001	All	135935	NOBOX	OMIM:611548
HP:0000001	All	677814	SNORA31	OMIM:619396
HP:0000001	All	1411	CRYBA1	OMIM:600881
HP:0000001	All	27327	TNRC6A	OMIM:618074
HP:0000001	All	144568	A2ML1	OMIM:166760
HP:0000001	All	200576	PIKFYVE	OMIM:121850
HP:0000001	All	6005	RHAG	OMIM:185000
HP:0000001	All	6005	RHAG	OMIM:268150
HP:0000001	All	7168	TPM1	OMIM:115196
HP:0000001	All	7168	TPM1	OMIM:611878
HP:0000001	All	799	CALCR	OMIM:166710
HP:0000001	All	8572	PDLIM4	OMIM:166710
HP:0000001	All	152137	CCDC50	OMIM:607453
HP:0000001	All	240	ALOX5	OMIM:600807
HP:0000001	All	6356	CCL11	OMIM:600807
HP:0000001	All	7124	TNF	OMIM:600807
HP:0000001	All	7124	TNF	OMIM:157300
HP:0000001	All	4589	MUC7	OMIM:600807
HP:0000001	All	117156	SCGB3A2	OMIM:600807
HP:0000001	All	3135	HLA-G	OMIM:600807
HP:0000001	All	3596	IL13	OMIM:600807
HP:0000001	All	4363	ABCC1	OMIM:618915
HP:0000001	All	114798	SLITRK1	OMIM:613229
HP:0000001	All	114798	SLITRK1	OMIM:137580
HP:0000001	All	83872	HMCN1	OMIM:603075
HP:0000001	All	112802	KRT71	OMIM:615896
HP:0000001	All	80736	SLC44A4	OMIM:617606
HP:0000001	All	401138	AMTN	OMIM:617607
HP:0000001	All	7414	VCL	OMIM:613255
HP:0000001	All	7414	VCL	OMIM:611407
HP:0000001	All	8864	PER2	OMIM:604348
HP:0000001	All	6714	SRC	OMIM:114500
HP:0000001	All	6714	SRC	OMIM:616937
HP:0000001	All	10395	DLC1	OMIM:114500
HP:0000001	All	8313	AXIN2	OMIM:114500
HP:0000001	All	8313	AXIN2	OMIM:608615
HP:0000001	All	5782	PTPN12	OMIM:114500
HP:0000001	All	5320	PLA2G2A	OMIM:114500
HP:0000001	All	6790	AURKA	OMIM:114500
HP:0000001	All	581	BAX	OMIM:114500
HP:0000001	All	25788	RAD54B	OMIM:114500
HP:0000001	All	7097	TLR2	OMIM:114500
HP:0000001	All	7097	TLR2	OMIM:246300
HP:0000001	All	4163	MCC	OMIM:114500
HP:0000001	All	5157	PDGFRL	OMIM:114500
HP:0000001	All	5795	PTPRJ	OMIM:114500
HP:0000001	All	5350	PLN	OMIM:609909
HP:0000001	All	5350	PLN	OMIM:613874
HP:0000001	All	7277	TUBA4A	OMIM:616208
HP:0000001	All	2120	ETV6	OMIM:616216
HP:0000001	All	2120	ETV6	OMIM:601626
HP:0000001	All	610	HCN2	OMIM:602477
HP:0000001	All	4978	OPCML	OMIM:167000
HP:0000001	All	4040	LRP6	OMIM:610947
HP:0000001	All	4040	LRP6	OMIM:616724
HP:0000001	All	5459	POU4F3	OMIM:602459
HP:0000001	All	9620	CELSR1	OMIM:619319
HP:0000001	All	84699	CREB3L3	OMIM:619324
HP:0000001	All	23586	RIGI	OMIM:616298
HP:0000001	All	27032	ATP2C1	OMIM:169600
HP:0000001	All	10845	CLPX	OMIM:618015
HP:0000001	All	4905	NSF	OMIM:619340
HP:0000001	All	284	ANGPT1	OMIM:619361
HP:0000001	All	26509	MYOF	OMIM:619366
HP:0000001	All	1066	CES1	OMIM:618057
HP:0000001	All	3048	HBG2	OMIM:613977
HP:0000001	All	3048	HBG2	OMIM:141749
HP:0000001	All	286887	KRT6C	OMIM:615735
HP:0000001	All	2672	GFI1	OMIM:613107
HP:0000001	All	2672	GFI1	OMIM:607847
HP:0000001	All	463	ZFHX3	OMIM:176807
HP:0000001	All	1316	KLF6	OMIM:176807
HP:0000001	All	4601	MXI1	OMIM:176807
HP:0000001	All	8379	MAD1L1	OMIM:176807
HP:0000001	All	81027	TUBB1	OMIM:613112
HP:0000001	All	3273	HRG	OMIM:613116
HP:0000001	All	91624	NEXN	OMIM:613122
HP:0000001	All	91624	NEXN	OMIM:613876
HP:0000001	All	3860	KRT13	OMIM:615785
HP:0000001	All	29894	CPSF1	OMIM:618827
HP:0000001	All	5336	PLCG2	OMIM:614468
HP:0000001	All	5336	PLCG2	OMIM:614878
HP:0000001	All	246213	SLC17A8	OMIM:605583
HP:0000001	All	4194	MDM4	OMIM:618849
HP:0000001	All	65266	WNK4	OMIM:614491
HP:0000001	All	308	ANXA5	OMIM:614391
HP:0000001	All	407053	MIR96	OMIM:613074
HP:0000001	All	3850	KRT3	OMIM:618767
HP:0000001	All	51086	TNNI3K	OMIM:616117
HP:0000001	All	57822	GRHL3	OMIM:606713
HP:0000001	All	5357	PLS1	OMIM:618787
HP:0000001	All	2700	GJA3	OMIM:601885
HP:0000001	All	55605	KIF21A	OMIM:135700
HP:0000001	All	7716	VEZF1	OMIM:620247
HP:0000001	All	6532	SLC6A4	OMIM:164230
HP:0000001	All	133396	IL31RA	OMIM:613955
HP:0000001	All	342618	SLFN14	OMIM:616913
HP:0000001	All	11146	GLMN	OMIM:138000
HP:0000001	All	29119	CTNNA3	OMIM:615616
HP:0000001	All	3371	TNC	OMIM:615629
HP:0000001	All	3067	HDC	OMIM:137580
HP:0000001	All	8763	CD164	OMIM:616969
HP:0000001	All	1837	DTNA	OMIM:604169
HP:0000001	All	53630	BCO1	OMIM:115300
HP:0000001	All	286077	FAM83H	OMIM:130900
HP:0000001	All	54583	EGLN1	OMIM:609820
HP:0000001	All	3659	IRF1	OMIM:211980
HP:0000001	All	1548	CYP2A6	OMIM:211980
HP:0000001	All	1548	CYP2A6	OMIM:122700
HP:0000001	All	5519	PPP2R1B	OMIM:211980
HP:0000001	All	1326	MAP3K8	OMIM:211980
HP:0000001	All	116369	SLC26A8	OMIM:606766
HP:0000001	All	4153	MBL2	OMIM:614372
HP:0000001	All	10654	PMVK	OMIM:175800
HP:0000001	All	735	C9	OMIM:615591
HP:0000001	All	63036	CELA2A	OMIM:618620
HP:0000001	All	8930	MBD4	OMIM:619975
HP:0000001	All	8930	MBD4	OMIM:606660
HP:0000001	All	7123	CLEC3B	OMIM:619977
HP:0000001	All	389692	MAFA	OMIM:147630
HP:0000001	All	55596	ZCCHC8	OMIM:618674
HP:0000001	All	63910	SLC17A9	OMIM:616063
HP:0000001	All	80320	SP6	OMIM:620104
HP:0000001	All	64376	IKZF5	OMIM:619130
HP:0000001	All	7003	TEAD1	OMIM:108985
HP:0000001	All	22900	CARD8	OMIM:619079
HP:0000001	All	79966	SCD5	OMIM:619086
HP:0000001	All	402	ARL2	OMIM:619082
HP:0000001	All	6742	SSBP1	OMIM:165510
HP:0000001	All	57592	ZNF687	OMIM:616833
HP:0000001	All	147495	APCDD1	OMIM:605389
HP:0000001	All	2495	FTH1	OMIM:615517
HP:0000001	All	128866	CHMP4B	OMIM:605387
HP:0000001	All	9094	UNC119	OMIM:615518
HP:0000001	All	102	ADAM10	OMIM:615537
HP:0000001	All	8863	PER3	OMIM:616882
HP:0000001	All	10194	TSHZ1	OMIM:607842
HP:0000001	All	27022	FOXD3	OMIM:607836
HP:0000001	All	56616	DIABLO	OMIM:614152
HP:0000001	All	1407	CRY1	OMIM:614163
HP:0000001	All	84146	ZNF644	OMIM:614167
HP:0000001	All	1733	DIO1	OMIM:619855
HP:0000001	All	10621	POLR3F	OMIM:619872
HP:0000001	All	24145	PANX1	OMIM:618550
HP:0000001	All	153	ADRB1	OMIM:618591
HP:0000001	All	64388	GREM2	OMIM:617275
HP:0000001	All	6530	SLC6A2	OMIM:604715
HP:0000001	All	57522	SRGAP1	OMIM:188470
HP:0000001	All	4635	MYL4	OMIM:617280
HP:0000001	All	8914	TIMELESS	OMIM:620015
HP:0000001	All	1559	CYP2C9	OMIM:122700
HP:0000001	All	80216	ALPK1	OMIM:614979
HP:0000001	All	338567	KCNK18	OMIM:613656
HP:0000001	All	4205	MEF2A	OMIM:608320
HP:0000001	All	9455	HOMER2	OMIM:616707
HP:0000001	All	3053	SERPIND1	OMIM:612356
HP:0000001	All	201973	PRIMPOL	OMIM:615420
HP:0000001	All	3029	HAGH	OMIM:614033
HP:0000001	All	6117	RPA1	OMIM:619767
HP:0000001	All	7867	MAPKAPK3	OMIM:617111
HP:0000001	All	120766137	HRURF	OMIM:146550
HP:0000001	All	30817	ADGRE2	OMIM:125630
HP:0000001	All	1071	CETP	OMIM:143470
HP:0000001	All	54765	TRIM44	OMIM:617142
HP:0000001	All	1815	DRD4	OMIM:143465
HP:0000001	All	362	AQP5	OMIM:600231
HP:0000001	All	54538	ROBO4	OMIM:618496
HP:0000001	All	6041	RNASEL	OMIM:601518
HP:0000001	All	26511	CHIC2	OMIM:601626
HP:0000001	All	1050	CEBPA	OMIM:601626
HP:0000001	All	2322	FLT3	OMIM:601626
HP:0000001	All	6455	SH3GL1	OMIM:601626
HP:0000001	All	8028	MLLT10	OMIM:601626
HP:0000001	All	8301	PICALM	OMIM:601626
HP:0000001	All	4026	LPP	OMIM:601626
HP:0000001	All	124404	SEPTIN12	OMIM:614822
HP:0000001	All	9639	ARHGEF10	OMIM:608236
HP:0000001	All	22953	P2RX2	OMIM:608224
HP:0000001	All	4306	NR3C2	OMIM:177735
HP:0000001	All	4306	NR3C2	OMIM:605115
HP:0000001	All	9180	OSMR	OMIM:105250
HP:0000001	All	113457	TUBA3D	OMIM:617928
HP:0000001	All	3741	KCNA5	OMIM:612240
HP:0000001	All	3047	HBG1	OMIM:141749
HP:0000001	All	3566	IL4R	OMIM:147050
HP:0000001	All	2206	MS4A2	OMIM:147050
HP:0000001	All	2978	GUCA1A	OMIM:602093
HP:0000001	All	23092	ARHGAP26	OMIM:607785
HP:0000001	All	1508	CTSB	OMIM:148370
HP:0000001	All	2224	FDPS	OMIM:616631
HP:0000001	All	6915	TBXA2R	OMIM:614009
HP:0000001	All	136371	ASB10	OMIM:603383
HP:0000001	All	3777	KCNK3	OMIM:615344
HP:0000001	All	6890	TAP1	OMIM:604571
HP:0000001	All	6891	TAP2	OMIM:604571
HP:0000001	All	6892	TAPBP	OMIM:604571
HP:0000001	All	146845	CFAP52	OMIM:619607
HP:0000001	All	1369	CPN1	OMIM:212070
HP:0000001	All	200942	KLHDC8B	OMIM:236000
HP:0000001	All	29775	CARD10	OMIM:619632
HP:0000001	All	3982	LIM2	OMIM:615277
HP:0000001	All	399	RHOH	OMIM:618307
HP:0000001	All	3574	IL7	OMIM:618309
HP:0000001	All	431705	ASTL	OMIM:619643
HP:0000001	All	145645	TERB2	OMIM:619645
HP:0000001	All	283847	TERB1	OMIM:619646
HP:0000001	All	3373	HYAL1	OMIM:601492
HP:0000001	All	2694	CBLIF	OMIM:261000
HP:0000001	All	1441	CSF3R	OMIM:617014
HP:0000001	All	84074	QRICH2	OMIM:618341
HP:0000001	All	10734	STAG3	OMIM:619672
HP:0000001	All	10734	STAG3	OMIM:615723
HP:0000001	All	285498	RNF212	OMIM:619673
HP:0000001	All	8540	AGPS	OMIM:600121
HP:0000001	All	2784	GNB3	OMIM:617024
HP:0000001	All	7783	ZP2	OMIM:618353
HP:0000001	All	140801	RPL10L	OMIM:619689
HP:0000001	All	11190	CEP250	OMIM:618358
HP:0000001	All	286151	FBXO43	OMIM:619696
HP:0000001	All	286151	FBXO43	OMIM:619697
HP:0000001	All	7922	SLC39A7	OMIM:619693
HP:0000001	All	23328	SASH1	OMIM:618373
HP:0000001	All	9294	S1PR2	OMIM:610419
HP:0000001	All	1053	CEBPE	OMIM:260570
HP:0000001	All	1053	CEBPE	OMIM:245480
HP:0000001	All	84957	RELT	OMIM:618386
HP:0000001	All	50617	ATP6V0A4	OMIM:602722
HP:0000001	All	169522	KCNV2	OMIM:610356
HP:0000001	All	771	CA12	OMIM:143860
HP:0000001	All	5241	PGR	OMIM:264080
HP:0000001	All	11181	TREH	OMIM:612119
HP:0000001	All	5269	SERPINB6	OMIM:613453
HP:0000001	All	27329	ANGPTL3	OMIM:605019
HP:0000001	All	9837	GINS1	OMIM:617827
HP:0000001	All	128338	DRAM2	OMIM:616502
HP:0000001	All	493753	COA5	OMIM:616500
HP:0000001	All	7286	TUFT1	OMIM:607655
HP:0000001	All	4891	SLC11A2	OMIM:206100
HP:0000001	All	925	CD8A	OMIM:608957
HP:0000001	All	3689	ITGB2	OMIM:116920
HP:0000001	All	220	ALDH1A3	OMIM:615113
HP:0000001	All	10388	SYCP2	OMIM:258150
HP:0000001	All	152926	PPM1K	OMIM:615135
HP:0000001	All	5950	RBP4	OMIM:615147
HP:0000001	All	491	ATP2B2	OMIM:601386
HP:0000001	All	7381	UQCRB	OMIM:615158
HP:0000001	All	196385	DNAH10	OMIM:619515
HP:0000001	All	150274	HSCB	OMIM:619523
HP:0000001	All	83938	LRMDA	OMIM:615179
HP:0000001	All	84888	SPPL2A	OMIM:619549
HP:0000001	All	199713	NLRP7	OMIM:231090
HP:0000001	All	6916	TBXAS1	OMIM:231095
HP:0000001	All	147138	TMC8	OMIM:618231
HP:0000001	All	2027	ENO3	OMIM:612932
HP:0000001	All	6795	AURKC	OMIM:243060
HP:0000001	All	55814	BDP1	OMIM:618257
HP:0000001	All	4140	MARK3	OMIM:618283
HP:0000001	All	5479	PPIB	OMIM:259440
HP:0000001	All	117144	CATSPER1	OMIM:612997
HP:0000001	All	54084	TSPEAR	OMIM:618180
HP:0000001	All	54084	TSPEAR	OMIM:620173
HP:0000001	All	54084	TSPEAR	OMIM:614861
HP:0000001	All	494513	PJVK	OMIM:610220
HP:0000001	All	2693	GHSR	OMIM:615925
HP:0000001	All	117531	TMC1	OMIM:600974
HP:0000001	All	259236	TMIE	OMIM:600971
HP:0000001	All	222662	LHFPL5	OMIM:610265
HP:0000001	All	286262	TPRN	OMIM:613307
HP:0000001	All	64902	AGXT2	OMIM:210100
HP:0000001	All	174	AFP	OMIM:615969
HP:0000001	All	2059	EPS8	OMIM:615974
HP:0000001	All	57654	UVSSA	OMIM:614640
HP:0000001	All	93183	PIGM	OMIM:610293
HP:0000001	All	5054	SERPINE1	OMIM:613329
HP:0000001	All	2984	GUCY2C	OMIM:614665
HP:0000001	All	57798	GATAD1	OMIM:614672
HP:0000001	All	708	C1QBP	OMIM:617713
HP:0000001	All	197135	PATL2	OMIM:617743
HP:0000001	All	1794	DOCK2	OMIM:616433
HP:0000001	All	3071	NCKAP1L	OMIM:618982
HP:0000001	All	3998	LMAN1	OMIM:227300
HP:0000001	All	85007	PHYKPL	OMIM:615011
HP:0000001	All	3665	IRF7	OMIM:616345
HP:0000001	All	23086	EXPH5	OMIM:615028
HP:0000001	All	345193	LRIT3	OMIM:615058
HP:0000001	All	344	APOC2	OMIM:207750
HP:0000001	All	83449	PMFBP1	OMIM:618112
HP:0000001	All	8492	PRSS12	OMIM:249500
HP:0000001	All	51163	DBR1	OMIM:619441
HP:0000001	All	2250	FGF5	OMIM:190330
HP:0000001	All	23218	NBEAL2	OMIM:139090
HP:0000001	All	81788	NUAK2	OMIM:619452
HP:0000001	All	55340	GIMAP5	OMIM:619463
HP:0000001	All	10205	MPZL2	OMIM:618145
HP:0000001	All	3709	ITPR2	OMIM:106190
HP:0000001	All	2692	GHRHR	OMIM:618157
HP:0000001	All	144406	CFAP251	OMIM:618152
HP:0000001	All	401024	FSIP2	OMIM:618153
HP:0000001	All	200931	SLC51A	OMIM:619484
HP:0000001	All	4617	MYF5	OMIM:618155
HP:0000001	All	7297	TYK2	OMIM:611521
HP:0000001	All	54977	SLC25A38	OMIM:205950
HP:0000001	All	55599	RNPC3	OMIM:618160
HP:0000001	All	7482	WNT2B	OMIM:618168
HP:0000001	All	10117	ENAM	OMIM:204650
HP:0000001	All	8323	FZD6	OMIM:161050
HP:0000001	All	730	C7	OMIM:610102
HP:0000001	All	79083	MLPH	OMIM:609227
HP:0000001	All	8754	ADAM9	OMIM:612775
HP:0000001	All	525	ATP6V1B1	OMIM:267300
HP:0000001	All	388698	FLG2	OMIM:618084
HP:0000001	All	220074	LRTOMT	OMIM:611451
HP:0000001	All	1690	COCH	OMIM:618094
HP:0000001	All	6691	SPINK2	OMIM:618091
HP:0000001	All	643226	GRXCR2	OMIM:615837
HP:0000001	All	153562	MARVELD2	OMIM:610153
HP:0000001	All	107	ADCY1	OMIM:610154
HP:0000001	All	79001	VKORC1	OMIM:607473
HP:0000001	All	23093	TTLL5	OMIM:615860
HP:0000001	All	8694	DGAT1	OMIM:615863
HP:0000001	All	256764	WDR72	OMIM:613211
HP:0000001	All	4308	TRPM1	OMIM:613216
HP:0000001	All	123041	SLC24A4	OMIM:615887
HP:0000001	All	10235	RASGRP2	OMIM:615888
HP:0000001	All	440435	GPR179	OMIM:614565
HP:0000001	All	4634	MYL3	OMIM:608751
HP:0000001	All	717	C2	OMIM:217000
HP:0000001	All	55329	MNS1	OMIM:618948
HP:0000001	All	3570	IL6R	OMIM:618944
HP:0000001	All	51649	MRPS23	OMIM:618952
HP:0000001	All	23558	WBP2	OMIM:617639
HP:0000001	All	64787	EPS8L2	OMIM:617637
HP:0000001	All	389207	GRXCR1	OMIM:613285
HP:0000001	All	676	BRDT	OMIM:617644
HP:0000001	All	151648	SGO1	OMIM:616201
HP:0000001	All	83932	SPRTN	OMIM:616200
HP:0000001	All	958	CD40	OMIM:606843
HP:0000001	All	4174	MCM5	OMIM:617564
HP:0000001	All	100128927	ZBTB42	OMIM:616248
HP:0000001	All	55779	CFAP44	OMIM:617593
HP:0000001	All	2954	GSTZ1	OMIM:617596
HP:0000001	All	64377	CHST8	OMIM:616265
HP:0000001	All	258	AMBN	OMIM:616270
HP:0000001	All	83893	SPATA16	OMIM:102530
HP:0000001	All	55388	MCM10	OMIM:619313
HP:0000001	All	54845	ESRP1	OMIM:618013
HP:0000001	All	2661	GDF9	OMIM:618014
HP:0000001	All	3795	KHK	OMIM:229800
HP:0000001	All	5019	OXCT1	OMIM:245050
HP:0000001	All	6123	RPL3L	OMIM:619371
HP:0000001	All	7390	UROS	OMIM:263700
HP:0000001	All	375307	CATIP	OMIM:619379
HP:0000001	All	6522	SLC4A2	OMIM:620366
HP:0000001	All	200162	SPAG17	OMIM:619380
HP:0000001	All	2533	FYB1	OMIM:273900
HP:0000001	All	2642	GCGR	OMIM:619290
HP:0000001	All	2214	FCGR3A	OMIM:615707
HP:0000001	All	79443	FYCO1	OMIM:610019
HP:0000001	All	375748	ERCC6L2	OMIM:615715
HP:0000001	All	164045	HFM1	OMIM:615724
HP:0000001	All	1811	SLC26A3	OMIM:214700
HP:0000001	All	631	BFSP1	OMIM:611391
HP:0000001	All	8556	CDC14A	OMIM:608653
HP:0000001	All	4173	MCM4	OMIM:609981
HP:0000001	All	10999	SLC27A4	OMIM:608649
HP:0000001	All	1825	DSC3	OMIM:613102
HP:0000001	All	59067	IL21	OMIM:615767
HP:0000001	All	9631	NUP155	OMIM:615770
HP:0000001	All	22917	ZP1	OMIM:615774
HP:0000001	All	5188	GATB	OMIM:618838
HP:0000001	All	55191	NADSYN1	OMIM:618845
HP:0000001	All	23155	CLCC1	OMIM:609913
HP:0000001	All	26249	KLHL3	OMIM:614495
HP:0000001	All	2549	GAB1	OMIM:605428
HP:0000001	All	83894	TTC29	OMIM:618745
HP:0000001	All	5651	TMPRSS15	OMIM:226200
HP:0000001	All	125336	LOXHD1	OMIM:613079
HP:0000001	All	80739	MPIG6B	OMIM:617441
HP:0000001	All	11081	KERA	OMIM:217300
HP:0000001	All	5568	PRKACG	OMIM:616176
HP:0000001	All	7007	TECTA	OMIM:603629
HP:0000001	All	254394	MCM9	OMIM:616185
HP:0000001	All	57007	ACKR3	OMIM:619215
HP:0000001	All	1675	CFD	OMIM:613912
HP:0000001	All	1830	DSG3	OMIM:619226
HP:0000001	All	9563	H6PD	OMIM:604931
HP:0000001	All	2155	F7	OMIM:227500
HP:0000001	All	920	CD4	OMIM:619238
HP:0000001	All	11077	HSF2BP	OMIM:619245
HP:0000001	All	100127206	MINAR2	OMIM:620238
HP:0000001	All	6554	SLC10A1	OMIM:619256
HP:0000001	All	284382	ACTL9	OMIM:619258
HP:0000001	All	283417	DPY19L2	OMIM:613958
HP:0000001	All	203	AK1	OMIM:612631
HP:0000001	All	9313	MMP20	OMIM:612529
HP:0000001	All	1638	DCT	OMIM:619165
HP:0000001	All	8547	FCN3	OMIM:613860
HP:0000001	All	375611	SLC26A5	OMIM:613865
HP:0000001	All	338657	CENATAC	OMIM:620153
HP:0000001	All	678	ZFP36L2	OMIM:620154
HP:0000001	All	645104	CLRN2	OMIM:619174
HP:0000001	All	5699	PSMB10	OMIM:619175
HP:0000001	All	283677	REC114	OMIM:619176
HP:0000001	All	89876	CFAP91	OMIM:619177
HP:0000001	All	80726	IQCN	OMIM:620170
HP:0000001	All	23424	TDRD7	OMIM:613887
HP:0000001	All	79669	C3orf52	OMIM:620177
HP:0000001	All	3588	IL10RB	OMIM:612567
HP:0000001	All	84946	LTV1	OMIM:620199
HP:0000001	All	2103	ESRRB	OMIM:608565
HP:0000001	All	85452	CFAP74	OMIM:620197
HP:0000001	All	157855	KCNU1	OMIM:620196
HP:0000001	All	915	CD3D	OMIM:615617
HP:0000001	All	64788	LMF1	OMIM:246650
HP:0000001	All	11078	TRIOBP	OMIM:609823
HP:0000001	All	3702	ITK	OMIM:613011
HP:0000001	All	64805	P2RY12	OMIM:609821
HP:0000001	All	9381	OTOF	OMIM:601071
HP:0000001	All	64699	TMPRSS3	OMIM:601072
HP:0000001	All	3551	IKBKB	OMIM:615592
HP:0000001	All	7293	TNFRSF4	OMIM:615593
HP:0000001	All	26873	OPLAH	OMIM:260005
HP:0000001	All	64094	SMOC2	OMIM:125400
HP:0000001	All	7941	PLA2G7	OMIM:614278
HP:0000001	All	8632	DNAH17	OMIM:618643
HP:0000001	All	10379	IRF9	OMIM:618648
HP:0000001	All	1475	CSTA	OMIM:607936
HP:0000001	All	154288	KHDC3L	OMIM:614293
HP:0000001	All	23581	CASP14	OMIM:617320
HP:0000001	All	255101	CFAP65	OMIM:618664
HP:0000001	All	2936	GSR	OMIM:618660
HP:0000001	All	118491	CFAP70	OMIM:618670
HP:0000001	All	84522	JAGN1	OMIM:616022
HP:0000001	All	53405	CLIC5	OMIM:616042
HP:0000001	All	9622	KLK4	OMIM:204700
HP:0000001	All	83999	KREMEN1	OMIM:617392
HP:0000001	All	6573	SLC19A1	OMIM:601775
HP:0000001	All	28956	LAMTOR2	OMIM:610798
HP:0000001	All	9187	SLC24A1	OMIM:613830
HP:0000001	All	159686	CFAP58	OMIM:619144
HP:0000001	All	84189	SLITRK6	OMIM:221200
HP:0000001	All	126326	GIPC3	OMIM:601869
HP:0000001	All	51181	DCXR	OMIM:260800
HP:0000001	All	201134	CEP112	OMIM:619044
HP:0000001	All	2160	F11	OMIM:612416
HP:0000001	All	8382	NME5	OMIM:620032
HP:0000001	All	55037	PTCD3	OMIM:619057
HP:0000001	All	3818	KLKB1	OMIM:612423
HP:0000001	All	9333	TGM5	OMIM:609796
HP:0000001	All	729	C6	OMIM:612446
HP:0000001	All	79816	TLE6	OMIM:616814
HP:0000001	All	146754	DNAH2	OMIM:619094
HP:0000001	All	1769	DNAH8	OMIM:619095
HP:0000001	All	10747	MASP2	OMIM:613791
HP:0000001	All	53904	MYO3A	OMIM:607101
HP:0000001	All	51251	NT5C3A	OMIM:266120
HP:0000001	All	81034	SLC25A32	OMIM:616839
HP:0000001	All	8787	RGS9	OMIM:608415
HP:0000001	All	1417	CRYBB3	OMIM:609741
HP:0000001	All	10	NAT2	OMIM:243400
HP:0000001	All	948	CD36	OMIM:608404
HP:0000001	All	23094	SIPA1L3	OMIM:616851
HP:0000001	All	51206	GP6	OMIM:614201
HP:0000001	All	163183	SYNE4	OMIM:615540
HP:0000001	All	27232	GNMT	OMIM:606664
HP:0000001	All	3454	IFNAR1	OMIM:619935
HP:0000001	All	158401	SHOC1	OMIM:619949
HP:0000001	All	84936	ZFYVE19	OMIM:619849
HP:0000001	All	56259	CTNNBL1	OMIM:619846
HP:0000001	All	4646	MYO6	OMIM:607821
HP:0000001	All	2876	GPX1	OMIM:614164
HP:0000001	All	283652	SLC24A5	OMIM:113750
HP:0000001	All	1474	CST6	OMIM:618535
HP:0000001	All	8482	SEMA7A	OMIM:619874
HP:0000001	All	8111	GPR68	OMIM:617217
HP:0000001	All	89869	PLCZ1	OMIM:617214
HP:0000001	All	54456	MOV10L1	OMIM:619878
HP:0000001	All	353238	PADI6	OMIM:617234
HP:0000001	All	6476	SI	OMIM:222900
HP:0000001	All	3321	IGSF3	OMIM:149700
HP:0000001	All	7062	TCHH	OMIM:617252
HP:0000001	All	154	ADRB2	OMIM:601665
HP:0000001	All	155	ADRB3	OMIM:601665
HP:0000001	All	7352	UCP3	OMIM:601665
HP:0000001	All	8431	NR0B2	OMIM:601665
HP:0000001	All	9607	CARTPT	OMIM:601665
HP:0000001	All	51738	GHRL	OMIM:601665
HP:0000001	All	9672	SDC3	OMIM:601665
HP:0000001	All	181	AGRP	OMIM:601665
HP:0000001	All	93650	ACP4	OMIM:617297
HP:0000001	All	343637	RSPO4	OMIM:206800
HP:0000001	All	51168	MYO15A	OMIM:600316
HP:0000001	All	253827	MSRB3	OMIM:613718
HP:0000001	All	125170	MIEF2	OMIM:619024
HP:0000001	All	3082	HGF	OMIM:608265
HP:0000001	All	5784	PTPN14	OMIM:613611
HP:0000001	All	283310	OTOGL	OMIM:614944
HP:0000001	All	340990	OTOG	OMIM:614945
HP:0000001	All	112817	HOGA1	OMIM:613616
HP:0000001	All	146183	OTOA	OMIM:607039
HP:0000001	All	90411	MCFD2	OMIM:613625
HP:0000001	All	51293	CD320	OMIM:613646
HP:0000001	All	5002	SLC22A18	OMIM:268210
HP:0000001	All	8456	FOXN1	OMIM:601705
HP:0000001	All	712	C1QA	OMIM:613652
HP:0000001	All	286676	ILDR1	OMIM:609646
HP:0000001	All	5962	RDX	OMIM:611022
HP:0000001	All	30062	RAX	OMIM:611038
HP:0000001	All	3621	ING1	OMIM:275355
HP:0000001	All	8795	TNFRSF10B	OMIM:275355
HP:0000001	All	669	BPGM	OMIM:222800
HP:0000001	All	83552	MFRP	OMIM:611040
HP:0000001	All	83552	MFRP	OMIM:609549
HP:0000001	All	84173	ELMOD3	OMIM:615429
HP:0000001	All	4043	LRPAP1	OMIM:615431
HP:0000001	All	147183	KRT25	OMIM:616760
HP:0000001	All	84660	CCDC62	OMIM:619803
HP:0000001	All	347688	TUBB8	OMIM:616780
HP:0000001	All	170692	ADAMTS18	OMIM:615458
HP:0000001	All	199720	GGN	OMIM:619826
HP:0000001	All	3990	LIPC	OMIM:614025
HP:0000001	All	144132	DNHD1	OMIM:619712
HP:0000001	All	23562	CLDN14	OMIM:614035
HP:0000001	All	196527	ANO6	OMIM:262890
HP:0000001	All	9364	RAB28	OMIM:615374
HP:0000001	All	388551	CEACAM16	OMIM:618410
HP:0000001	All	28755	TRAC	OMIM:615387
HP:0000001	All	9529	BAG5	OMIM:619747
HP:0000001	All	23262	PPIP5K2	OMIM:618422
HP:0000001	All	65080	MRPL44	OMIM:615395
HP:0000001	All	199223	TTC21A	OMIM:618429
HP:0000001	All	4808	NHLH2	OMIM:619755
HP:0000001	All	150365	MEI1	OMIM:618431
HP:0000001	All	79703	TOP6BL	OMIM:618432
HP:0000001	All	84071	ARMC2	OMIM:618433
HP:0000001	All	84343	HPS3	OMIM:614072
HP:0000001	All	2651	GCNT2	OMIM:116700
HP:0000001	All	5271	SERPINB8	OMIM:617115
HP:0000001	All	10750	GRAP	OMIM:618456
HP:0000001	All	847	CAT	OMIM:614097
HP:0000001	All	124976	SPNS2	OMIM:618457
HP:0000001	All	79879	CCDC134	OMIM:619795
HP:0000001	All	8288	EPX	OMIM:261500
HP:0000001	All	2048	EPHB2	OMIM:618462
HP:0000001	All	11055	ZPBP	OMIM:619799
HP:0000001	All	9154	SLC28A1	OMIM:618477
HP:0000001	All	124842	TMEM132E	OMIM:618481
HP:0000001	All	140732	SUN5	OMIM:617187
HP:0000001	All	5345	SERPINF2	OMIM:262850
HP:0000001	All	23438	HARS2	OMIM:614926
HP:0000001	All	3827	KNG1	OMIM:228960
HP:0000001	All	3229	HOXC13	OMIM:614931
HP:0000001	All	7172	TPMT	OMIM:610460
HP:0000001	All	152816	ODAPH	OMIM:614832
HP:0000001	All	646960	PRSS56	OMIM:613517
HP:0000001	All	7498	XDH	OMIM:278300
HP:0000001	All	6789	STK4	OMIM:614868
HP:0000001	All	727	C5	OMIM:609536
HP:0000001	All	7837	PXDN	OMIM:269400
HP:0000001	All	3460	IFNGR2	OMIM:614889
HP:0000001	All	2056	EPO	OMIM:617911
HP:0000001	All	10457	GPNMB	OMIM:617920
HP:0000001	All	51475	CABP2	OMIM:614899
HP:0000001	All	6097	RORC	OMIM:616622
HP:0000001	All	79846	CFAP69	OMIM:617959
HP:0000001	All	80705	TSGA10	OMIM:617961
HP:0000001	All	122481	AK7	OMIM:617965
HP:0000001	All	2328	FMO3	OMIM:602079
HP:0000001	All	401	PHOX2A	OMIM:602078
HP:0000001	All	23397	NCAPH	OMIM:617985
HP:0000001	All	494551	WEE2	OMIM:617996
HP:0000001	All	3455	IFNAR2	OMIM:616669
HP:0000001	All	8328	GFI1B	OMIM:187900
HP:0000001	All	6911	TBX6	ORPHA:1797
HP:0000001	All	4478	MSN	OMIM:300988
HP:0000001	All	5971	RELB	OMIM:617585
HP:0000001	All	26284	ERAL1	OMIM:617565
HP:0000001	All	4439	MSH5	OMIM:617442
HP:0000001	All	344018	FIGLA	OMIM:612310
HP:0000001	All	10398	MYL9	OMIM:619365
HP:0000001	All	55240	STEAP3	OMIM:615234
HP:0000001	All	55240	STEAP3	ORPHA:300298
HP:0000001	All	84515	MCM8	OMIM:612885
HP:0000001	All	4438	MSH4	OMIM:108420
HP:0000001	All	317761	C14orf39	OMIM:619202
HP:0000001	All	6875	TAF4B	OMIM:615841
HP:0000001	All	6875	TAF4B	ORPHA:399805
HP:0000001	All	84225	ZMYND15	OMIM:615842
HP:0000001	All	84225	ZMYND15	ORPHA:399805
HP:0000001	All	56155	TEX14	OMIM:617707
HP:0000001	All	56155	TEX14	ORPHA:399805
HP:0000001	All	56154	TEX15	ORPHA:399805
HP:0000001	All	254528	MEIOB	ORPHA:399805
HP:0000001	All	91057	CCDC34	ORPHA:399805
HP:0000001	All	402381	SOHLH1	ORPHA:399805
HP:0000001	All	317719	KLHL10	ORPHA:399805
HP:0000001	All	154197	PNLDC1	ORPHA:399805
HP:0000001	All	93426	SYCE1	ORPHA:399805
HP:0000001	All	340719	NANOS1	ORPHA:399805
HP:0000001	All	340719	NANOS1	OMIM:615413
HP:0000001	All	50511	SYCP3	ORPHA:399805
HP:0000001	All	50511	SYCP3	OMIM:270960
HP:0000001	All	161497	STRC	ORPHA:94064
HP:0000001	All	117155	CATSPER2	ORPHA:94064
HP:0000001	All	93953	GCNA	OMIM:301077
HP:0000001	All	10149	ADGRG2	OMIM:300985
HP:0000001	All	5161	PDHA2	OMIM:619828
HP:0000001	All	130951	M1AP	OMIM:619108
HP:0000001	All	9082	XKRY	OMIM:415000
HP:0000001	All	8284	KDM5D	OMIM:415000
HP:0000001	All	442862	PRY2	OMIM:415000
HP:0000001	All	9081	PRY	OMIM:415000
HP:0000001	All	140032	RPS4Y2	OMIM:415000
HP:0000001	All	9426	CDY2A	OMIM:415000
HP:0000001	All	9083	BPY2	OMIM:415000
HP:0000001	All	86614	HSFY1	OMIM:415000
HP:0000001	All	9084	VCY	OMIM:415000
HP:0000001	All	9085	CDY1	OMIM:415000
HP:0000001	All	7258	TSPY1	ORPHA:1646
HP:0000001	All	57055	DAZ2	ORPHA:1646
HP:0000001	All	57135	DAZ4	ORPHA:1646
HP:0000001	All	8287	USP9Y	ORPHA:1646
HP:0000001	All	5940	RBMY1A1	ORPHA:1646
HP:0000001	All	57054	DAZ3	ORPHA:1646
HP:0000001	All	8653	DDX3Y	ORPHA:1646
HP:0000001	All	1617	DAZ1	ORPHA:1646
HP:0000001	All	122402	TDRD9	OMIM:618110
HP:0000001	All	3640	INSL3	OMIM:219050
HP:0000001	All	1748	DLX4	OMIM:616788
HP:0000001	All	2312	FLG	ORPHA:461
HP:0000001	All	8854	ALDH1A2	OMIM:620025
HP:0000001	All	56159	TEX11	OMIM:309120
HP:0000001	All	7374	UNG	OMIM:608106
HP:0000001	All	285	ANGPT2	OMIM:619369
HP:0000001	All	7424	VEGFC	OMIM:615907
HP:0000001	All	268	AMH	ORPHA:2856
HP:0000001	All	269	AMHR2	ORPHA:2856
HP:0000001	All	2488	FSHB	ORPHA:52901
HP:0000001	All	55366	LGR4	OMIM:619613
HP:0000001	All	558	AXL	OMIM:146110
HP:0000001	All	10011	SRA1	OMIM:146110
HP:0000001	All	3972	LHB	OMIM:228300
HP:0000001	All	1761	DMRT1	ORPHA:242
HP:0000001	All	84733	CBX2	ORPHA:242
HP:0000001	All	2296	FOXC1	ORPHA:782
HP:0000001	All	4713	NDUFB7	OMIM:620135
HP:0000001	All	1589	CYP21A2	OMIM:201910
HP:0000001	All	27316	RBMX	OMIM:300238
HP:0000001	All	2688	GH1	OMIM:612781
HP:0000001	All	10661	KLF1	OMIM:613673
HP:0000001	All	190	NR0B1	ORPHA:393
HP:0000001	All	190	NR0B1	ORPHA:251510
HP:0000001	All	7026	NR2F2	OMIM:618901
HP:0000001	All	1646	AKR1C2	OMIM:614279
HP:0000001	All	1109	AKR1C4	OMIM:614279
HP:0000001	All	284654	RSPO1	OMIM:610644
HP:0000001	All	6845	VAMP7	ORPHA:251510
HP:0000001	All	4214	MAP3K1	ORPHA:251510
HP:0000001	All	58524	DMRT3	ORPHA:251510
HP:0000001	All	3293	HSD17B3	ORPHA:752
HP:0000001	All	6716	SRD5A2	ORPHA:753
HP:0000001	All	5337	PLD1	OMIM:212093
HP:0000001	All	64321	SOX17	OMIM:613674
HP:0000001	All	10861	SLC26A1	OMIM:167030
HP:0000001	All	183	AGT	OMIM:267430
HP:0000001	All	185	AGTR1	OMIM:267430
HP:0000001	All	1636	ACE	OMIM:267430
HP:0000001	All	9860	LRIG2	OMIM:615112
HP:0000001	All	9860	LRIG2	ORPHA:2704
HP:0000001	All	11136	SLC7A9	OMIM:220100
HP:0000001	All	4312	MMP1	ORPHA:79408
HP:0000001	All	9380	GRHPR	OMIM:260000
HP:0000001	All	9380	GRHPR	ORPHA:93599
HP:0000001	All	6523	SLC5A1	ORPHA:35710
HP:0000001	All	55034	MOCOS	OMIM:603592
HP:0000001	All	9071	CLDN10	OMIM:617671
HP:0000001	All	54757	FAM20A	OMIM:204690
HP:0000001	All	54757	FAM20A	ORPHA:1031
HP:0000001	All	1175	AP2S1	OMIM:600740
HP:0000001	All	60495	HPSE2	ORPHA:2704
HP:0000001	All	147912	SIX5	ORPHA:107
HP:0000001	All	147912	SIX5	OMIM:610896
HP:0000001	All	3931	LCAT	OMIM:245900
HP:0000001	All	7369	UMOD	OMIM:162000
HP:0000001	All	54916	TMEM260	OMIM:617478
HP:0000001	All	3426	CFI	OMIM:610984
HP:0000001	All	9247	GCM2	ORPHA:99879
HP:0000001	All	4627	MYH9	ORPHA:182050
HP:0000001	All	1147	CHUK	OMIM:613630
HP:0000001	All	6092	ROBO2	OMIM:610878
HP:0000001	All	9096	TBX18	OMIM:143400
HP:0000001	All	5972	REN	OMIM:613092
HP:0000001	All	10907	TXNL4A	OMIM:608572
HP:0000001	All	56606	SLC2A9	ORPHA:94088
HP:0000001	All	116085	SLC22A12	ORPHA:94088
HP:0000001	All	25959	KANK2	OMIM:617783
HP:0000001	All	4069	LYZ	OMIM:105200
HP:0000001	All	2321	FLT1	ORPHA:275555
HP:0000001	All	219736	STOX1	ORPHA:275555
HP:0000001	All	10699	CORIN	ORPHA:275555
HP:0000001	All	6288	SAA1	ORPHA:85445
HP:0000001	All	4179	CD46	OMIM:612922
HP:0000001	All	4179	CD46	ORPHA:244242
HP:0000001	All	7056	THBD	OMIM:612926
HP:0000001	All	101101692	HELLPAR	ORPHA:244242
HP:0000001	All	29927	SEC61A1	OMIM:617056
HP:0000001	All	55243	KIRREL1	OMIM:619201
HP:0000001	All	3973	LHCGR	ORPHA:3000
HP:0000001	All	8651	SOCS1	OMIM:619375
HP:0000001	All	10916	MAGED2	OMIM:300971
HP:0000001	All	84548	TMEM185A	ORPHA:100974
HP:0000001	All	79983	POF1B	OMIM:300604
HP:0000001	All	1739	DLG1	ORPHA:199306
HP:0000001	All	9411	ARHGAP29	ORPHA:199306
HP:0000001	All	7314	UBB	ORPHA:99772
HP:0000001	All	388531	RGS9BP	ORPHA:75374
HP:0000001	All	7039	TGFA	ORPHA:99798
HP:0000001	All	2289	FKBP5	OMIM:608516
HP:0000001	All	28234	SLCO1B3	ORPHA:3111
HP:0000001	All	10599	SLCO1B1	ORPHA:3111
HP:0000001	All	6591	SNAI2	ORPHA:895
HP:0000001	All	6591	SNAI2	ORPHA:2884
HP:0000001	All	4254	KITLG	ORPHA:895
HP:0000001	All	4254	KITLG	OMIM:619947
HP:0000001	All	80153	EDC3	OMIM:616460
HP:0000001	All	8518	ELP1	ORPHA:1764
HP:0000001	All	71	ACTG1	ORPHA:2995
HP:0000001	All	60	ACTB	ORPHA:2995
HP:0000001	All	4157	MC1R	ORPHA:79432
HP:0000001	All	4982	TNFRSF11B	OMIM:239000
HP:0000001	All	2677	GGCX	OMIM:610842
HP:0000001	All	2677	GGCX	ORPHA:91135
HP:0000001	All	6609	SMPD1	OMIM:607616
HP:0000001	All	22926	ATF6	ORPHA:49382
HP:0000001	All	5146	PDE6C	ORPHA:49382
HP:0000001	All	5149	PDE6H	ORPHA:49382
HP:0000001	All	2780	GNAT2	ORPHA:49382
HP:0000001	All	1261	CNGA3	ORPHA:49382
HP:0000001	All	8813	DPM1	OMIM:608799
HP:0000001	All	4286	MITF	ORPHA:897
HP:0000001	All	9382	COG1	ORPHA:263508
HP:0000001	All	1806	DPYD	ORPHA:1675
HP:0000001	All	5080	PAX6	ORPHA:2334
HP:0000001	All	220202	ATOH7	ORPHA:91495
HP:0000001	All	3166	HMX1	OMIM:612109
HP:0000001	All	406987	MIR204	OMIM:616722
HP:0000001	All	84131	CEP78	OMIM:617236
HP:0000001	All	6247	RS1	OMIM:312700
HP:0000001	All	284217	LAMA1	OMIM:615960
HP:0000001	All	284217	LAMA1	ORPHA:370022
HP:0000001	All	57709	SLC7A14	OMIM:615725
HP:0000001	All	51095	TRNT1	OMIM:616959
HP:0000001	All	760	CA2	ORPHA:2785
HP:0000001	All	128178	EDARADD	OMIM:224900
HP:0000001	All	10913	EDAR	OMIM:224900
HP:0000001	All	1896	EDA	OMIM:305100
HP:0000001	All	63915	BLOC1S5	OMIM:619172
HP:0000001	All	57724	EPG5	OMIM:242840
HP:0000001	All	8943	AP3D1	OMIM:617050
HP:0000001	All	8943	AP3D1	ORPHA:1000
HP:0000001	All	8943	AP3D1	ORPHA:54
HP:0000001	All	7299	TYR	OMIM:203100
HP:0000001	All	7299	TYR	ORPHA:79431
HP:0000001	All	8546	AP3B1	OMIM:608233
HP:0000001	All	1130	LYST	ORPHA:352723
HP:0000001	All	1130	LYST	OMIM:214500
HP:0000001	All	4935	GPR143	ORPHA:54
HP:0000001	All	4935	GPR143	OMIM:300500
HP:0000001	All	89781	HPS4	OMIM:614073
HP:0000001	All	11234	HPS5	OMIM:614074
HP:0000001	All	26258	BLOC1S6	OMIM:614171
HP:0000001	All	388552	BLOC1S3	OMIM:614077
HP:0000001	All	79803	HPS6	OMIM:614075
HP:0000001	All	84062	DTNBP1	OMIM:614076
HP:0000001	All	51151	SLC45A2	ORPHA:79435
HP:0000001	All	4007	PRICKLE3	OMIM:308905
HP:0000001	All	336	APOA2	OMIM:143890
HP:0000001	All	2053	EPHX2	OMIM:143890
HP:0000001	All	10842	PPP1R17	OMIM:143890
HP:0000001	All	2538	G6PC1	OMIM:232200
HP:0000001	All	4023	LPL	OMIM:144250
HP:0000001	All	7274	TTPA	OMIM:277460
HP:0000001	All	161742	SPRED1	ORPHA:137605
HP:0000001	All	348	APOE	ORPHA:412
HP:0000001	All	335	APOA1	ORPHA:425
HP:0000001	All	5309	PITX3	OMIM:107250
HP:0000001	All	26137	ZBTB20	OMIM:259050
HP:0000001	All	9445	ITM2B	OMIM:117300
HP:0000001	All	7431	VIM	OMIM:116300
HP:0000001	All	55714	TENM3	OMIM:615145
HP:0000001	All	9785	DHX38	OMIM:618220
HP:0000001	All	25974	MMACHC	ORPHA:79282
HP:0000001	All	7053	TGM3	OMIM:617251
HP:0000001	All	112939	NACC1	ORPHA:500545
HP:0000001	All	221496	LEMD2	OMIM:212500
HP:0000001	All	64682	ANAPC1	OMIM:618625
HP:0000001	All	64682	ANAPC1	ORPHA:221008
HP:0000001	All	8974	P4HA2	ORPHA:397
HP:0000001	All	7399	USH2A	OMIM:613809
HP:0000001	All	7066	THPO	ORPHA:71493
HP:0000001	All	4117	MAK	OMIM:614181
HP:0000001	All	51816	ADA2	ORPHA:820
HP:0000001	All	4292	MLH1	ORPHA:144
HP:0000001	All	5395	PMS2	ORPHA:144
HP:0000001	All	27030	MLH3	ORPHA:144
HP:0000001	All	2956	MSH6	ORPHA:144
HP:0000001	All	5378	PMS1	ORPHA:144
HP:0000001	All	4436	MSH2	ORPHA:144
HP:0000001	All	6011	GRK1	ORPHA:75382
HP:0000001	All	64218	SEMA4A	ORPHA:440437
HP:0000001	All	657	BMPR1A	ORPHA:440437
HP:0000001	All	6224	RPS20	ORPHA:440437
HP:0000001	All	84196	USP48	ORPHA:96253
HP:0000001	All	9101	USP8	ORPHA:96253
HP:0000001	All	64072	CDH23	ORPHA:96253
HP:0000001	All	2908	NR3C1	ORPHA:96253
HP:0000001	All	23370	ARHGEF18	OMIM:617433
HP:0000001	All	4327	MMP19	OMIM:611543
HP:0000001	All	1462	VCAN	OMIM:143200
HP:0000001	All	55901	THSD1	ORPHA:231160
HP:0000001	All	7049	TGFBR3	ORPHA:231160
HP:0000001	All	1281	COL3A1	ORPHA:231160
HP:0000001	All	83854	ANGPTL6	ORPHA:231160
HP:0000001	All	2022	ENG	ORPHA:231160
HP:0000001	All	23426	GRIP1	OMIM:617667
HP:0000001	All	23426	GRIP1	ORPHA:2052
HP:0000001	All	341640	FREM2	OMIM:617666
HP:0000001	All	341640	FREM2	OMIM:123570
HP:0000001	All	341640	FREM2	ORPHA:2052
HP:0000001	All	158326	FREM1	ORPHA:2717
HP:0000001	All	158326	FREM1	OMIM:248450
HP:0000001	All	10586	MAB21L2	OMIM:615877
HP:0000001	All	80144	FRAS1	ORPHA:2052
HP:0000001	All	80144	FRAS1	OMIM:219000
HP:0000001	All	2706	GJB2	OMIM:148210
HP:0000001	All	54892	NCAPG2	OMIM:618460
HP:0000001	All	7078	TIMP3	ORPHA:59181
HP:0000001	All	6017	RLBP1	ORPHA:85128
HP:0000001	All	83959	SLC4A11	OMIM:217400
HP:0000001	All	83959	SLC4A11	OMIM:217700
HP:0000001	All	83959	SLC4A11	ORPHA:1490
HP:0000001	All	83959	SLC4A11	OMIM:613268
HP:0000001	All	4166	CHST6	OMIM:217800
HP:0000001	All	6935	ZEB1	OMIM:613270
HP:0000001	All	6935	ZEB1	OMIM:609141
HP:0000001	All	4070	TACSTD2	OMIM:204870
HP:0000001	All	1296	COL8A2	OMIM:609140
HP:0000001	All	1296	COL8A2	OMIM:136800
HP:0000001	All	1634	DCN	OMIM:610048
HP:0000001	All	29914	UBIAD1	OMIM:121800
HP:0000001	All	1308	COL17A1	ORPHA:293381
HP:0000001	All	26007	TKFC	ORPHA:1369
HP:0000001	All	55750	AGK	ORPHA:1369
HP:0000001	All	2776	GNAQ	ORPHA:3205
HP:0000001	All	2652	OPN1MW	ORPHA:16
HP:0000001	All	5956	OPN1LW	ORPHA:16
HP:0000001	All	3859	KRT12	OMIM:122100
HP:0000001	All	123624	AGBL1	OMIM:615523
HP:0000001	All	4591	TRIM37	OMIM:253250
HP:0000001	All	1413	CRYBA4	ORPHA:1377
HP:0000001	All	1409	CRYAA	ORPHA:1377
HP:0000001	All	1415	CRYBB2	ORPHA:1377
HP:0000001	All	1414	CRYBB1	ORPHA:1377
HP:0000001	All	1420	CRYGC	ORPHA:1377
HP:0000001	All	1421	CRYGD	ORPHA:1377
HP:0000001	All	80781	COL18A1	OMIM:267750
HP:0000001	All	4016	LOXL1	OMIM:177650
HP:0000001	All	26610	ELP4	OMIM:617141
HP:0000001	All	55214	P3H2	OMIM:614292
HP:0000001	All	91851	CHRDL1	OMIM:309300
HP:0000001	All	6297	SALL2	OMIM:216820
HP:0000001	All	7287	TULP1	OMIM:600132
HP:0000001	All	7287	TULP1	OMIM:613843
HP:0000001	All	26121	PRPF31	OMIM:600138
HP:0000001	All	10594	PRPF8	OMIM:600059
HP:0000001	All	1121	CHM	OMIM:303100
HP:0000001	All	5949	RBP3	OMIM:615233
HP:0000001	All	5949	RBP3	OMIM:268000
HP:0000001	All	22901	ARSG	OMIM:618144
HP:0000001	All	285440	CYP4V2	ORPHA:41751
HP:0000001	All	285440	CYP4V2	OMIM:210370
HP:0000001	All	6295	SAG	OMIM:620228
HP:0000001	All	84839	RAX2	OMIM:620102
HP:0000001	All	23600	AMACR	OMIM:614307
HP:0000001	All	6094	ROM1	OMIM:608133
HP:0000001	All	6094	ROM1	OMIM:268000
HP:0000001	All	9227	LRAT	OMIM:268000
HP:0000001	All	7401	CLRN1	OMIM:268000
HP:0000001	All	5148	PDE6G	OMIM:268000
HP:0000001	All	5148	PDE6G	OMIM:613582
HP:0000001	All	1259	CNGA1	OMIM:268000
HP:0000001	All	23746	AIPL1	OMIM:268000
HP:0000001	All	1406	CRX	OMIM:268000
HP:0000001	All	1406	CRX	OMIM:120970
HP:0000001	All	6101	RP1	OMIM:180100
HP:0000001	All	92211	CDHR1	OMIM:613660
HP:0000001	All	3420	IDH3B	OMIM:612572
HP:0000001	All	24148	PRPF6	OMIM:613983
HP:0000001	All	92840	REEP6	OMIM:617304
HP:0000001	All	10461	MERTK	OMIM:613862
HP:0000001	All	79947	DHDDS	OMIM:613861
HP:0000001	All	9128	PRPF4	OMIM:615922
HP:0000001	All	3419	IDH3A	OMIM:619007
HP:0000001	All	9371	KIF3B	OMIM:618955
HP:0000001	All	93589	CACNA2D4	OMIM:610478
HP:0000001	All	84140	FAM161A	OMIM:606068
HP:0000001	All	5191	PEX7	OMIM:614879
HP:0000001	All	4942	OAT	ORPHA:414
HP:0000001	All	55670	PEX26	ORPHA:772
HP:0000001	All	5824	PEX19	ORPHA:772
HP:0000001	All	8504	PEX3	ORPHA:772
HP:0000001	All	9409	PEX16	ORPHA:772
HP:0000001	All	8799	PEX11B	ORPHA:772
HP:0000001	All	5830	PEX5	ORPHA:772
HP:0000001	All	5193	PEX12	ORPHA:772
HP:0000001	All	5194	PEX13	ORPHA:772
HP:0000001	All	5195	PEX14	ORPHA:772
HP:0000001	All	346007	EYS	OMIM:602772
HP:0000001	All	6452	SH3BP2	OMIM:118400
HP:0000001	All	326	AIRE	OMIM:240300
HP:0000001	All	282809	POC1B	OMIM:615973
HP:0000001	All	4901	NRL	OMIM:613750
HP:0000001	All	10002	NR2E3	OMIM:611131
HP:0000001	All	8565	YARS1	OMIM:619418
HP:0000001	All	64834	ELOVL1	OMIM:618527
HP:0000001	All	138050	HGSNAT	OMIM:616544
HP:0000001	All	2779	GNAT1	OMIM:616389
HP:0000001	All	80201	HKDC1	OMIM:619614
HP:0000001	All	6100	RP9	OMIM:180104
HP:0000001	All	55812	SPATA7	OMIM:604232
HP:0000001	All	6102	RP2	OMIM:312600
HP:0000001	All	84233	TMEM126A	OMIM:612989
HP:0000001	All	3614	IMPDH1	OMIM:180105
HP:0000001	All	1678	TIMM8A	OMIM:304700
HP:0000001	All	6103	RPGR	OMIM:300029
HP:0000001	All	24	ABCA4	OMIM:601718
HP:0000001	All	55857	KIZ	OMIM:615780
HP:0000001	All	55624	POMGNT1	OMIM:617123
HP:0000001	All	375298	CERKL	OMIM:608380
HP:0000001	All	5995	RGR	OMIM:613769
HP:0000001	All	4976	OPA1	ORPHA:1215
HP:0000001	All	9653	HS2ST1	OMIM:619194
HP:0000001	All	3299	HSF4	OMIM:116800
HP:0000001	All	406960	MIR184	OMIM:614303
HP:0000001	All	1285	COL4A3	OMIM:104200
HP:0000001	All	57551	TAOK1	OMIM:619575
HP:0000001	All	1419	CRYGB	OMIM:615188
HP:0000001	All	84168	ANTXR1	OMIM:230740
HP:0000001	All	1282	COL4A1	OMIM:180000
HP:0000001	All	1282	COL4A1	OMIM:611773
HP:0000001	All	1282	COL4A1	OMIM:175780
HP:0000001	All	1804	DPP6	ORPHA:2514
HP:0000001	All	1185	CLCN6	OMIM:619173
HP:0000001	All	8777	MPDZ	OMIM:615219
HP:0000001	All	324	APC	ORPHA:99818
HP:0000001	All	146167	SLC38A8	OMIM:609218
HP:0000001	All	92255	LMBRD2	OMIM:619694
HP:0000001	All	3949	LDLR	ORPHA:391665
HP:0000001	All	255738	PCSK9	ORPHA:391665
HP:0000001	All	26119	LDLRAP1	ORPHA:391665
HP:0000001	All	338	APOB	ORPHA:391665
HP:0000001	All	64240	ABCG5	ORPHA:391665
HP:0000001	All	64241	ABCG8	ORPHA:391665
HP:0000001	All	493856	CISD2	OMIM:604928
HP:0000001	All	91574	MTRFR	ORPHA:320375
HP:0000001	All	1181	CLCN2	OMIM:615651
HP:0000001	All	79639	TMEM53	OMIM:619727
HP:0000001	All	189	AGXT	OMIM:259900
HP:0000001	All	686	BTD	ORPHA:79241
HP:0000001	All	2202	EFEMP1	ORPHA:98977
HP:0000001	All	1545	CYP1B1	ORPHA:98977
HP:0000001	All	4653	MYOC	ORPHA:98977
HP:0000001	All	4519	MT-CYB	OMIM:535000
HP:0000001	All	4539	MT-ND4L	OMIM:535000
HP:0000001	All	10102	TSFM	OMIM:610505
HP:0000001	All	7439	BEST1	ORPHA:1243
HP:0000001	All	7439	BEST1	ORPHA:99000
HP:0000001	All	50939	IMPG2	ORPHA:99000
HP:0000001	All	3617	IMPG1	ORPHA:99000
HP:0000001	All	1969	EPHA2	OMIM:116600
HP:0000001	All	5456	POU3F4	ORPHA:1435
HP:0000001	All	10992	SF3B2	OMIM:164210
HP:0000001	All	261734	NPHP4	OMIM:606996
HP:0000001	All	3769	KCNJ13	ORPHA:65
HP:0000001	All	343035	RD3	ORPHA:65
HP:0000001	All	145226	RDH12	ORPHA:65
HP:0000001	All	64802	NMNAT1	ORPHA:65
HP:0000001	All	10383	TUBB4B	ORPHA:65
HP:0000001	All	85015	USP45	ORPHA:65
HP:0000001	All	6121	RPE65	ORPHA:65
HP:0000001	All	6121	RPE65	OMIM:613794
HP:0000001	All	23418	CRB1	ORPHA:65
HP:0000001	All	9657	IQCB1	ORPHA:65
HP:0000001	All	3000	GUCY2D	ORPHA:65
HP:0000001	All	167691	LCA5	ORPHA:65
HP:0000001	All	4693	NDP	ORPHA:891
HP:0000001	All	3257	HPS1	OMIM:203300
HP:0000001	All	130557	ZNF513	OMIM:613617
HP:0000001	All	4810	NHS	OMIM:302200
HP:0000001	All	54714	CNGB3	OMIM:262300
HP:0000001	All	114902	C1QTNF5	ORPHA:67042
HP:0000001	All	778	CACNA1F	OMIM:300600
HP:0000001	All	6809	STX3	OMIM:619446
HP:0000001	All	8842	PROM1	OMIM:612095
HP:0000001	All	7466	WFS1	OMIM:614296
HP:0000001	All	6010	RHO	ORPHA:52427
HP:0000001	All	5959	RDH5	ORPHA:52427
HP:0000001	All	1287	COL4A5	OMIM:301050
HP:0000001	All	5076	PAX2	OMIM:120330
HP:0000001	All	23554	TSPAN12	OMIM:613310
HP:0000001	All	8322	FZD4	OMIM:133780
HP:0000001	All	79797	ZNF408	OMIM:616468
HP:0000001	All	11277	TREX1	OMIM:192315
HP:0000001	All	7045	TGFBI	OMIM:608471
HP:0000001	All	7045	TGFBI	OMIM:607541
HP:0000001	All	7045	TGFBI	OMIM:122200
HP:0000001	All	7045	TGFBI	ORPHA:98964
HP:0000001	All	5981	RFC1	OMIM:614575
HP:0000001	All	4287	ATXN3	OMIM:109150
HP:0000001	All	1938	EEF2	OMIM:609306
HP:0000001	All	1938	EEF2	ORPHA:101112
HP:0000001	All	55703	POLR3B	OMIM:614381
HP:0000001	All	6311	ATXN2	OMIM:183090
HP:0000001	All	6812	STXBP1	OMIM:612164
HP:0000001	All	1200	TPP1	ORPHA:284324
HP:0000001	All	1200	TPP1	OMIM:609270
HP:0000001	All	55129	ANO10	ORPHA:284289
HP:0000001	All	8913	CACNA1G	ORPHA:458803
HP:0000001	All	8913	CACNA1G	OMIM:616795
HP:0000001	All	7515	XRCC1	OMIM:617633
HP:0000001	All	23533	PIK3R5	ORPHA:64753
HP:0000001	All	23064	SETX	ORPHA:64753
HP:0000001	All	23064	SETX	OMIM:606002
HP:0000001	All	3752	KCND3	OMIM:607346
HP:0000001	All	23203	PMPCA	OMIM:213200
HP:0000001	All	57410	SCYL1	ORPHA:466794
HP:0000001	All	5582	PRKCG	ORPHA:98763
HP:0000001	All	1822	ATN1	ORPHA:101
HP:0000001	All	2332	FMR1	OMIM:300623
HP:0000001	All	81790	RNF170	OMIM:619686
HP:0000001	All	10935	PRDX3	OMIM:619862
HP:0000001	All	23503	ZFYVE26	ORPHA:100996
HP:0000001	All	54664	TMEM106B	OMIM:617964
HP:0000001	All	2705	GJB1	ORPHA:1175
HP:0000001	All	492	ATP2B3	ORPHA:314978
HP:0000001	All	9711	RUBCN	OMIM:615705
HP:0000001	All	9711	RUBCN	ORPHA:404499
HP:0000001	All	7490	WT1	OMIM:608978
HP:0000001	All	7490	WT1	OMIM:194080
HP:0000001	All	197131	UBR1	OMIM:243800
HP:0000001	All	2625	GATA3	ORPHA:2237
HP:0000001	All	2625	GATA3	OMIM:146255
HP:0000001	All	92002	CCNQ	OMIM:300707
HP:0000001	All	27152	INTU	OMIM:617925
HP:0000001	All	3110	MNX1	OMIM:176450
HP:0000001	All	1593	CYP27A1	ORPHA:909
HP:0000001	All	7355	SLC35A2	ORPHA:356961
HP:0000001	All	540	ATP7B	ORPHA:905
HP:0000001	All	56983	POGLUT1	ORPHA:79145
HP:0000001	All	3852	KRT5	ORPHA:79145
HP:0000001	All	23509	POFUT1	ORPHA:79145
HP:0000001	All	55851	PSENEN	ORPHA:79145
HP:0000001	All	6775	STAT4	ORPHA:85408
HP:0000001	All	3560	IL2RB	ORPHA:85408
HP:0000001	All	79722	ANKRD55	ORPHA:85408
HP:0000001	All	26191	PTPN22	ORPHA:85408
HP:0000001	All	919	CD247	ORPHA:85408
HP:0000001	All	3559	IL2RA	ORPHA:85408
HP:0000001	All	5771	PTPN2	ORPHA:85408
HP:0000001	All	57152	SLURP1	ORPHA:87503
HP:0000001	All	9993	DGCR2	OMIM:192430
HP:0000001	All	8220	ESS2	OMIM:192430
HP:0000001	All	8214	DGCR6	OMIM:192430
HP:0000001	All	54487	DGCR8	OMIM:192430
HP:0000001	All	6899	TBX1	OMIM:192430
HP:0000001	All	23314	SATB2	ORPHA:576283
HP:0000001	All	5428	POLG	ORPHA:298
HP:0000001	All	1890	TYMP	ORPHA:298
HP:0000001	All	3980	LIG3	ORPHA:298
HP:0000001	All	50484	RRM2B	ORPHA:298
HP:0000001	All	84572	GNPTG	OMIM:252605
HP:0000001	All	51360	MBTPS2	ORPHA:2273
HP:0000001	All	2717	GLA	OMIM:301500
HP:0000001	All	22930	RAB3GAP1	ORPHA:1387
HP:0000001	All	25782	RAB3GAP2	ORPHA:1387
HP:0000001	All	4210	MEFV	ORPHA:3243
HP:0000001	All	7840	ALMS1	OMIM:203800
HP:0000001	All	23389	MED13L	ORPHA:369891
HP:0000001	All	10804	GJB6	OMIM:129500
HP:0000001	All	3098	HK1	ORPHA:99953
HP:0000001	All	10908	PNPLA6	OMIM:245800
HP:0000001	All	652	BMP4	OMIM:607932
HP:0000001	All	51651	PTRH2	ORPHA:456312
HP:0000001	All	7305	TYROBP	OMIM:221770
HP:0000001	All	9927	MFN2	ORPHA:99947
HP:0000001	All	10617	STAMBP	OMIM:614261
HP:0000001	All	28981	IFT81	OMIM:617895
HP:0000001	All	392255	GDF6	OMIM:617898
HP:0000001	All	1947	EFNB1	ORPHA:1520
HP:0000001	All	1947	EFNB1	OMIM:304110
HP:0000001	All	5238	PGM3	ORPHA:443811
HP:0000001	All	55733	HHAT	OMIM:600092
HP:0000001	All	1836	SLC26A2	ORPHA:56304
HP:0000001	All	1836	SLC26A2	OMIM:226900
HP:0000001	All	1836	SLC26A2	ORPHA:93307
HP:0000001	All	9786	KIAA0586	ORPHA:397715
HP:0000001	All	114803	MYSM1	ORPHA:508542
HP:0000001	All	149775	GNAS-AS1	OMIM:603233
HP:0000001	All	8675	STX16	OMIM:603233
HP:0000001	All	2778	GNAS	OMIM:603233
HP:0000001	All	2778	GNAS	ORPHA:79443
HP:0000001	All	2778	GNAS	ORPHA:79444
HP:0000001	All	2778	GNAS	ORPHA:79445
HP:0000001	All	2778	GNAS	OMIM:612463
HP:0000001	All	2778	GNAS	OMIM:612462
HP:0000001	All	2778	GNAS	ORPHA:2762
HP:0000001	All	2778	GNAS	OMIM:103580
HP:0000001	All	1855	DVL1	OMIM:616331
HP:0000001	All	1855	DVL1	OMIM:180700
HP:0000001	All	1855	DVL1	ORPHA:3107
HP:0000001	All	55790	CSGALNACT1	OMIM:618870
HP:0000001	All	10026	PIGK	OMIM:618879
HP:0000001	All	28960	DCPS	OMIM:616459
HP:0000001	All	112752	IFT43	ORPHA:1515
HP:0000001	All	112752	IFT43	OMIM:614099
HP:0000001	All	112752	IFT43	OMIM:617866
HP:0000001	All	51098	IFT52	ORPHA:1515
HP:0000001	All	51098	IFT52	OMIM:617102
HP:0000001	All	55764	IFT122	ORPHA:1515
HP:0000001	All	55764	IFT122	OMIM:218330
HP:0000001	All	57728	WDR19	ORPHA:1515
HP:0000001	All	57728	WDR19	ORPHA:474
HP:0000001	All	57728	WDR19	OMIM:614376
HP:0000001	All	55636	CHD7	ORPHA:138
HP:0000001	All	9723	SEMA3E	ORPHA:138
HP:0000001	All	57231	SNX14	ORPHA:397709
HP:0000001	All	57231	SNX14	OMIM:616354
HP:0000001	All	1513	CTSK	OMIM:265800
HP:0000001	All	1513	CTSK	ORPHA:763
HP:0000001	All	818	CAMK2G	OMIM:618522
HP:0000001	All	54453	RIN2	OMIM:613075
HP:0000001	All	54453	RIN2	ORPHA:217335
HP:0000001	All	170691	ADAMTS17	OMIM:613195
HP:0000001	All	9469	CHST3	OMIM:143095
HP:0000001	All	9469	CHST3	ORPHA:263463
HP:0000001	All	7994	KAT6A	ORPHA:457193
HP:0000001	All	7994	KAT6A	OMIM:616268
HP:0000001	All	84100	ARL6	OMIM:209900
HP:0000001	All	84100	ARL6	OMIM:600151
HP:0000001	All	79140	CCDC28B	OMIM:209900
HP:0000001	All	582	BBS1	OMIM:209900
HP:0000001	All	8036	SHOC2	ORPHA:2701
HP:0000001	All	5500	PPP1CB	ORPHA:2701
HP:0000001	All	7291	TWIST1	OMIM:101400
HP:0000001	All	7291	TWIST1	ORPHA:794
HP:0000001	All	7291	TWIST1	ORPHA:35099
HP:0000001	All	63901	FAM111A	OMIM:602361
HP:0000001	All	26160	IFT172	ORPHA:474
HP:0000001	All	26160	IFT172	OMIM:615630
HP:0000001	All	153241	CEP120	ORPHA:474
HP:0000001	All	9742	IFT140	ORPHA:474
HP:0000001	All	79809	TTC21B	ORPHA:474
HP:0000001	All	79809	TTC21B	OMIM:613819
HP:0000001	All	54888	NSUN2	ORPHA:235
HP:0000001	All	8493	PPM1D	OMIM:617450
HP:0000001	All	23126	POGZ	OMIM:616364
HP:0000001	All	27125	AFF4	OMIM:616368
HP:0000001	All	27125	AFF4	ORPHA:444077
HP:0000001	All	5590	PRKCZ	ORPHA:1606
HP:0000001	All	2563	GABRD	ORPHA:1606
HP:0000001	All	8510	MMP23B	ORPHA:1606
HP:0000001	All	7798	LUZP1	ORPHA:1606
HP:0000001	All	6497	SKI	ORPHA:1606
HP:0000001	All	10630	PDPN	ORPHA:1606
HP:0000001	All	10277	UBE4B	ORPHA:1606
HP:0000001	All	8514	KCNAB2	ORPHA:1606
HP:0000001	All	473	RERE	ORPHA:1606
HP:0000001	All	63976	PRDM16	ORPHA:1606
HP:0000001	All	54897	CASZ1	ORPHA:1606
HP:0000001	All	1311	COMP	OMIM:177170
HP:0000001	All	1311	COMP	ORPHA:750
HP:0000001	All	1311	COMP	ORPHA:93308
HP:0000001	All	4247	MGAT2	ORPHA:79329
HP:0000001	All	54928	BPNT2	OMIM:614078
HP:0000001	All	124583	CANT1	OMIM:251450
HP:0000001	All	1301	COL11A1	ORPHA:440354
HP:0000001	All	1301	COL11A1	ORPHA:2021
HP:0000001	All	4488	MSX2	OMIM:604757
HP:0000001	All	5727	PTCH1	ORPHA:377
HP:0000001	All	5727	PTCH1	OMIM:109400
HP:0000001	All	8643	PTCH2	ORPHA:377
HP:0000001	All	51684	SUFU	ORPHA:377
HP:0000001	All	6603	SMARCD2	OMIM:617475
HP:0000001	All	23219	FBXO28	OMIM:619777
HP:0000001	All	51322	WAC	ORPHA:466950
HP:0000001	All	29929	ALG6	ORPHA:79320
HP:0000001	All	79053	ALG8	ORPHA:79325
HP:0000001	All	257	ALX3	OMIM:136760
HP:0000001	All	257	ALX3	ORPHA:391474
HP:0000001	All	6473	SHOX	ORPHA:240
HP:0000001	All	7227	TRPS1	OMIM:190351
HP:0000001	All	7227	TRPS1	ORPHA:502
HP:0000001	All	2879	GPX4	OMIM:250220
HP:0000001	All	59341	TRPV4	OMIM:156530
HP:0000001	All	59341	TRPV4	ORPHA:85169
HP:0000001	All	59341	TRPV4	ORPHA:93314
HP:0000001	All	176	ACAN	OMIM:612813
HP:0000001	All	176	ACAN	ORPHA:171866
HP:0000001	All	176	ACAN	ORPHA:435804
HP:0000001	All	176	ACAN	OMIM:165800
HP:0000001	All	51114	ZDHHC9	ORPHA:776
HP:0000001	All	65109	UPF3B	ORPHA:776
HP:0000001	All	9126	SMC3	OMIM:610759
HP:0000001	All	79068	FTO	OMIM:612938
HP:0000001	All	56975	FAM20C	OMIM:259775
HP:0000001	All	55249	YY1AP1	OMIM:602531
HP:0000001	All	5980	REV3L	ORPHA:570
HP:0000001	All	23129	PLXND1	ORPHA:570
HP:0000001	All	10940	POP1	OMIM:617396
HP:0000001	All	51132	RLIM	OMIM:300978
HP:0000001	All	4141	MARS1	OMIM:619692
HP:0000001	All	1621	DBH	OMIM:223360
HP:0000001	All	4052	LTBP1	OMIM:619451
HP:0000001	All	54496	PRMT7	OMIM:617157
HP:0000001	All	54496	PRMT7	ORPHA:464288
HP:0000001	All	2316	FLNA	ORPHA:88630
HP:0000001	All	2316	FLNA	OMIM:300244
HP:0000001	All	1009	CDH11	OMIM:211380
HP:0000001	All	5077	PAX3	OMIM:148820
HP:0000001	All	10483	SEC23B	ORPHA:201
HP:0000001	All	5728	PTEN	ORPHA:201
HP:0000001	All	6392	SDHD	ORPHA:201
HP:0000001	All	207	AKT1	ORPHA:201
HP:0000001	All	205717	USF3	ORPHA:201
HP:0000001	All	5290	PIK3CA	ORPHA:201
HP:0000001	All	100144748	KLLN	ORPHA:201
HP:0000001	All	633	BGN	OMIM:300989
HP:0000001	All	633	BGN	OMIM:300106
HP:0000001	All	7403	KDM6A	OMIM:300867
HP:0000001	All	5144	PDE4D	ORPHA:439822
HP:0000001	All	5144	PDE4D	ORPHA:950
HP:0000001	All	5144	PDE4D	OMIM:614613
HP:0000001	All	5144	PDE4D	ORPHA:280651
HP:0000001	All	6023	RMRP	OMIM:607095
HP:0000001	All	51715	RAB23	ORPHA:65759
HP:0000001	All	51715	RAB23	OMIM:201000
HP:0000001	All	1954	MEGF8	ORPHA:65759
HP:0000001	All	1954	MEGF8	OMIM:614976
HP:0000001	All	64374	SIL1	ORPHA:559
HP:0000001	All	51763	INPP5K	ORPHA:559
HP:0000001	All	50801	KCNK4	OMIM:618381
HP:0000001	All	9851	KIAA0753	OMIM:619479
HP:0000001	All	9851	KIAA0753	ORPHA:2754
HP:0000001	All	5977	DPF2	OMIM:618027
HP:0000001	All	94005	PIGS	OMIM:618143
HP:0000001	All	5530	PPP3CA	OMIM:618265
HP:0000001	All	285590	SH3PXD2B	ORPHA:137834
HP:0000001	All	10283	CWC27	OMIM:250410
HP:0000001	All	10283	CWC27	ORPHA:166035
HP:0000001	All	6513	SLC2A1	ORPHA:168577
HP:0000001	All	9060	PAPSS2	OMIM:612847
HP:0000001	All	2131	EXT1	ORPHA:502
HP:0000001	All	2887	GRB10	ORPHA:96182
HP:0000001	All	8720	MBTPS1	OMIM:618392
HP:0000001	All	1457	CSNK2A1	OMIM:617062
HP:0000001	All	2077	ERF	OMIM:617180
HP:0000001	All	5130	PCYT1A	ORPHA:85167
HP:0000001	All	5130	PCYT1A	OMIM:608940
HP:0000001	All	90416	CCDC32	OMIM:619123
HP:0000001	All	55717	WDR11	OMIM:620237
HP:0000001	All	23169	SLC35D1	OMIM:269250
HP:0000001	All	407975	MIR17HG	ORPHA:391646
HP:0000001	All	23387	SIK3	OMIM:618162
HP:0000001	All	5295	PIK3R1	ORPHA:3163
HP:0000001	All	51371	POMP	OMIM:618048
HP:0000001	All	89970	RSPRY1	ORPHA:457395
HP:0000001	All	51594	NBAS	OMIM:614800
HP:0000001	All	22800	RRAS2	ORPHA:648
HP:0000001	All	8216	LZTR1	ORPHA:648
HP:0000001	All	6016	RIT1	ORPHA:648
HP:0000001	All	6237	RRAS	ORPHA:648
HP:0000001	All	5894	RAF1	ORPHA:648
HP:0000001	All	22808	MRAS	ORPHA:648
HP:0000001	All	3845	KRAS	ORPHA:648
HP:0000001	All	3845	KRAS	ORPHA:3339
HP:0000001	All	200734	SPRED2	ORPHA:648
HP:0000001	All	4893	NRAS	ORPHA:648
HP:0000001	All	6654	SOS1	ORPHA:648
HP:0000001	All	6655	SOS2	ORPHA:648
HP:0000001	All	5781	PTPN11	ORPHA:648
HP:0000001	All	5781	PTPN11	OMIM:163950
HP:0000001	All	5922	RASA2	ORPHA:648
HP:0000001	All	7474	WNT5A	OMIM:180700
HP:0000001	All	7474	WNT5A	ORPHA:3107
HP:0000001	All	9897	WASHC5	ORPHA:7
HP:0000001	All	28952	CCDC22	ORPHA:7
HP:0000001	All	11011	TLK2	OMIM:618050
HP:0000001	All	51109	RDH11	ORPHA:436245
HP:0000001	All	25886	POC1A	OMIM:614813
HP:0000001	All	4053	LTBP2	OMIM:614819
HP:0000001	All	4053	LTBP2	ORPHA:3449
HP:0000001	All	2690	GHR	ORPHA:633
HP:0000001	All	8450	CUL4B	OMIM:300354
HP:0000001	All	5885	RAD21	OMIM:614701
HP:0000001	All	118429	ANTXR2	ORPHA:2176
HP:0000001	All	3209	HOXA13	OMIM:140000
HP:0000001	All	9241	NOG	ORPHA:3250
HP:0000001	All	9241	NOG	OMIM:186570
HP:0000001	All	9241	NOG	ORPHA:3237
HP:0000001	All	9241	NOG	OMIM:186500
HP:0000001	All	22858	CILK1	OMIM:612651
HP:0000001	All	2314	FLII	ORPHA:819
HP:0000001	All	10522	DEAF1	ORPHA:819
HP:0000001	All	10847	SRCAP	ORPHA:2044
HP:0000001	All	10847	SRCAP	OMIM:136140
HP:0000001	All	26153	KIF26A	OMIM:620156
HP:0000001	All	56992	KIF15	ORPHA:261323
HP:0000001	All	23522	KAT6B	OMIM:606170
HP:0000001	All	8289	ARID1A	OMIM:614607
HP:0000001	All	4054	LTBP3	ORPHA:969
HP:0000001	All	4054	LTBP3	OMIM:617809
HP:0000001	All	222663	SCUBE3	OMIM:619184
HP:0000001	All	6885	MAP3K7	OMIM:157800
HP:0000001	All	6885	MAP3K7	ORPHA:3238
HP:0000001	All	51021	MRPS16	OMIM:610498
HP:0000001	All	1302	COL11A2	ORPHA:2021
HP:0000001	All	1302	COL11A2	ORPHA:1427
HP:0000001	All	4853	NOTCH2	ORPHA:955
HP:0000001	All	2254	FGF9	ORPHA:3237
HP:0000001	All	5307	PITX1	OMIM:186550
HP:0000001	All	5307	PITX1	ORPHA:1275
HP:0000001	All	1857	DVL3	ORPHA:3107
HP:0000001	All	1857	DVL3	OMIM:616894
HP:0000001	All	2535	FZD2	ORPHA:3107
HP:0000001	All	55165	CEP55	OMIM:236500
HP:0000001	All	10236	HNRNPR	OMIM:620073
HP:0000001	All	4089	SMAD4	OMIM:139210
HP:0000001	All	4089	SMAD4	ORPHA:2588
HP:0000001	All	9321	TRIP11	OMIM:184260
HP:0000001	All	5159	PDGFRB	OMIM:601812
HP:0000001	All	5139	PDE3A	ORPHA:1276
HP:0000001	All	9555	MACROH2A1	ORPHA:1275
HP:0000001	All	7048	TGFBR2	OMIM:610168
HP:0000001	All	8195	MKKS	ORPHA:2473
HP:0000001	All	4882	NPR2	ORPHA:40
HP:0000001	All	22856	CHSY1	OMIM:605282
HP:0000001	All	22856	CHSY1	ORPHA:363417
HP:0000001	All	50945	TBX22	ORPHA:921
HP:0000001	All	2702	GJA5	OMIM:612474
HP:0000001	All	2702	GJA5	ORPHA:3303
HP:0000001	All	2703	GJA8	OMIM:612474
HP:0000001	All	585	BBS4	OMIM:615982
HP:0000001	All	129880	BBS5	OMIM:615983
HP:0000001	All	27241	BBS9	OMIM:615986
HP:0000001	All	196528	ARID2	OMIM:617808
HP:0000001	All	55081	IFT57	OMIM:617927
HP:0000001	All	6938	TCF12	ORPHA:35099
HP:0000001	All	6938	TCF12	OMIM:615314
HP:0000001	All	7545	ZIC1	ORPHA:35099
HP:0000001	All	92482	BBIP1	OMIM:615995
HP:0000001	All	51621	KLF13	OMIM:612001
HP:0000001	All	1139	CHRNA7	OMIM:612001
HP:0000001	All	54585	LZTFL1	OMIM:615994
HP:0000001	All	1482	NKX2-5	ORPHA:3303
HP:0000001	All	137814	NKX2-6	ORPHA:3303
HP:0000001	All	23414	ZFPM2	ORPHA:3303
HP:0000001	All	3791	KDR	ORPHA:3303
HP:0000001	All	2627	GATA6	ORPHA:3303
HP:0000001	All	2657	GDF1	ORPHA:3303
HP:0000001	All	182	JAG1	ORPHA:3303
HP:0000001	All	140628	GATA5	ORPHA:3303
HP:0000001	All	2324	FLT4	ORPHA:3303
HP:0000001	All	10370	CITED2	ORPHA:3303
HP:0000001	All	23291	FBXW11	OMIM:618914
HP:0000001	All	5053	PAH	ORPHA:2209
HP:0000001	All	101929726	MYMX	ORPHA:1358
HP:0000001	All	5925	RB1	ORPHA:1587
HP:0000001	All	3759	KCNJ2	OMIM:170390
HP:0000001	All	29980	DONSON	OMIM:617604
HP:0000001	All	5116	PCNT	OMIM:210720
HP:0000001	All	5116	PCNT	ORPHA:2637
HP:0000001	All	9419	CRIPT	OMIM:615789
HP:0000001	All	6638	SNRPN	ORPHA:177907
HP:0000001	All	9361	LONP1	ORPHA:1458
HP:0000001	All	8092	ALX1	ORPHA:306542
HP:0000001	All	117581	TWIST2	OMIM:209885
HP:0000001	All	54361	WNT4	ORPHA:247768
HP:0000001	All	55617	TASP1	OMIM:618950
HP:0000001	All	5744	PTHLH	OMIM:613382
HP:0000001	All	526	ATP6V1B2	OMIM:124480
HP:0000001	All	113246	C12orf57	OMIM:218340
HP:0000001	All	5331	PLCB3	OMIM:618961
HP:0000001	All	387	RHOA	OMIM:618727
HP:0000001	All	6913	TBX15	ORPHA:93333
HP:0000001	All	10210	TOPORS	ORPHA:2754
HP:0000001	All	5147	PDE6D	ORPHA:2754
HP:0000001	All	317662	FAM149B1	ORPHA:2754
HP:0000001	All	23404	EXOSC2	OMIM:617763
HP:0000001	All	406932	MIR140	OMIM:618618
HP:0000001	All	25871	NEPRO	OMIM:618853
HP:0000001	All	255758	DYNLT2B	OMIM:617405
HP:0000001	All	5604	MAP2K1	OMIM:163950
HP:0000001	All	50964	SOST	OMIM:269500
HP:0000001	All	84529	CDIN1	OMIM:615631
HP:0000001	All	7681	MKRN3	OMIM:176270
HP:0000001	All	3653	IPW	OMIM:176270
HP:0000001	All	791114	PWRN1	OMIM:176270
HP:0000001	All	100033413	SNORD116-1	OMIM:176270
HP:0000001	All	8924	HERC2	OMIM:176270
HP:0000001	All	145624	PWAR1	OMIM:176270
HP:0000001	All	23742	NPAP1	OMIM:176270
HP:0000001	All	338433	SNORD115-1	OMIM:176270
HP:0000001	All	1723	DHODH	OMIM:263750
HP:0000001	All	2192	FBLN1	ORPHA:404451
HP:0000001	All	50814	NSDHL	OMIM:308050
HP:0000001	All	3481	IGF2	OMIM:180860
HP:0000001	All	3481	IGF2	OMIM:616489
HP:0000001	All	3481	IGF2	ORPHA:397590
HP:0000001	All	8550	MAPKAPK5	OMIM:619869
HP:0000001	All	8260	NAA10	OMIM:309800
HP:0000001	All	79633	FAT4	OMIM:616006
HP:0000001	All	79633	FAT4	ORPHA:314679
HP:0000001	All	29957	SLC25A24	OMIM:612289
HP:0000001	All	4659	PPP1R12A	OMIM:618820
HP:0000001	All	6305	SBF1	OMIM:615284
HP:0000001	All	1028	CDKN1C	ORPHA:397590
HP:0000001	All	5324	PLAG1	ORPHA:397590
HP:0000001	All	8091	HMGA2	ORPHA:397590
HP:0000001	All	8642	DCHS1	ORPHA:314679
HP:0000001	All	57688	ZSWIM6	OMIM:603671
HP:0000001	All	775	CACNA1C	OMIM:618447
HP:0000001	All	8831	SYNGAP1	ORPHA:1942
HP:0000001	All	1173	AP2M1	ORPHA:1942
HP:0000001	All	340533	NEXMIF	ORPHA:1942
HP:0000001	All	1106	CHD2	ORPHA:1942
HP:0000001	All	6529	SLC6A1	ORPHA:1942
HP:0000001	All	1832	DSP	OMIM:609638
HP:0000001	All	3914	LAMB3	OMIM:226700
HP:0000001	All	3909	LAMA3	OMIM:226700
HP:0000001	All	3918	LAMC2	OMIM:226700
HP:0000001	All	29123	ANKRD11	OMIM:148050
HP:0000001	All	54101	RIPK4	OMIM:263650
HP:0000001	All	146059	CDAN1	OMIM:224120
HP:0000001	All	3207	HOXA11	OMIM:605432
HP:0000001	All	54806	AHI1	ORPHA:475
HP:0000001	All	54806	AHI1	ORPHA:220493
HP:0000001	All	200894	ARL13B	ORPHA:475
HP:0000001	All	9731	CEP104	ORPHA:475
HP:0000001	All	23247	KATNIP	ORPHA:475
HP:0000001	All	219854	TMEM218	ORPHA:475
HP:0000001	All	95681	CEP41	ORPHA:475
HP:0000001	All	95681	CEP41	ORPHA:220493
HP:0000001	All	10464	PIBF1	ORPHA:475
HP:0000001	All	23116	TOGARAM1	ORPHA:475
HP:0000001	All	25776	CBY1	ORPHA:475
HP:0000001	All	403	ARL3	ORPHA:475
HP:0000001	All	10682	EBP	ORPHA:401973
HP:0000001	All	5626	PROP1	ORPHA:226307
HP:0000001	All	89884	LHX4	ORPHA:226307
HP:0000001	All	8022	LHX3	ORPHA:226307
HP:0000001	All	5449	POU1F1	ORPHA:226307
HP:0000001	All	8820	HESX1	ORPHA:226307
HP:0000001	All	51	ACOX1	ORPHA:2971
HP:0000001	All	7547	ZIC3	OMIM:314390
HP:0000001	All	641	BLM	OMIM:210900
HP:0000001	All	26154	ABCA12	ORPHA:457
HP:0000001	All	8241	RBM10	ORPHA:2886
HP:0000001	All	7021	TFAP2B	ORPHA:46627
HP:0000001	All	51524	TMEM138	ORPHA:2318
HP:0000001	All	23090	ZNF423	ORPHA:2318
HP:0000001	All	2313	FLI1	ORPHA:2308
HP:0000001	All	6309	SC5D	ORPHA:46059
HP:0000001	All	6309	SC5D	OMIM:607330
HP:0000001	All	894	CCND2	ORPHA:83473
HP:0000001	All	894	CCND2	OMIM:615938
HP:0000001	All	5296	PIK3R2	ORPHA:83473
HP:0000001	All	10000	AKT3	ORPHA:83473
HP:0000001	All	10000	AKT3	OMIM:615937
HP:0000001	All	56623	INPP5E	OMIM:213300
HP:0000001	All	56623	INPP5E	ORPHA:1454
HP:0000001	All	55593	OTUD5	OMIM:301056
HP:0000001	All	83479	DDX59	OMIM:174300
HP:0000001	All	83479	DDX59	ORPHA:2919
HP:0000001	All	10225	CD96	OMIM:211750
HP:0000001	All	51057	WDPCP	OMIM:217085
HP:0000001	All	51057	WDPCP	ORPHA:110
HP:0000001	All	285600	KIAA0825	OMIM:618498
HP:0000001	All	26005	C2CD3	OMIM:615948
HP:0000001	All	26005	C2CD3	ORPHA:434179
HP:0000001	All	26040	SETBP1	OMIM:269150
HP:0000001	All	11020	IFT27	ORPHA:110
HP:0000001	All	49855	SCAPER	ORPHA:110
HP:0000001	All	4867	NPHP1	ORPHA:110
HP:0000001	All	84984	CEP19	ORPHA:110
HP:0000001	All	22954	TRIM32	ORPHA:110
HP:0000001	All	79738	BBS10	ORPHA:110
HP:0000001	All	123016	TTC8	ORPHA:110
HP:0000001	All	583	BBS2	ORPHA:110
HP:0000001	All	583	BBS2	OMIM:615981
HP:0000001	All	55212	BBS7	ORPHA:110
HP:0000001	All	166379	BBS12	ORPHA:110
HP:0000001	All	166379	BBS12	OMIM:615989
HP:0000001	All	10806	SDCCAG8	ORPHA:110
HP:0000001	All	80173	IFT74	ORPHA:110
HP:0000001	All	79005	SCNM1	OMIM:620107
HP:0000001	All	2736	GLI2	OMIM:610829
HP:0000001	All	80210	ARMC9	OMIM:617622
HP:0000001	All	23288	IQCE	OMIM:617642
HP:0000001	All	137392	CIBAR1	OMIM:618219
HP:0000001	All	7700	ZNF141	OMIM:615226
HP:0000001	All	64132	XYLT2	OMIM:605822
HP:0000001	All	4088	SMAD3	ORPHA:284984
HP:0000001	All	4088	SMAD3	OMIM:613795
HP:0000001	All	4088	SMAD3	ORPHA:91387
HP:0000001	All	875	CBS	ORPHA:394
HP:0000001	All	875	CBS	OMIM:236200
HP:0000001	All	25970	SH2B1	ORPHA:261222
HP:0000001	All	199857	ALG14	OMIM:619036
HP:0000001	All	1075	CTSC	OMIM:245010
HP:0000001	All	1075	CTSC	ORPHA:678
HP:0000001	All	5351	PLOD1	OMIM:225400
HP:0000001	All	8076	MFAP5	OMIM:616166
HP:0000001	All	8076	MFAP5	ORPHA:91387
HP:0000001	All	613	BCR	ORPHA:261330
HP:0000001	All	1399	CRKL	ORPHA:261330
HP:0000001	All	63895	PIEZO2	OMIM:617146
HP:0000001	All	63895	PIEZO2	OMIM:108145
HP:0000001	All	63895	PIEZO2	ORPHA:1154
HP:0000001	All	63895	PIEZO2	OMIM:248700
HP:0000001	All	63895	PIEZO2	ORPHA:2461
HP:0000001	All	72	ACTG2	ORPHA:2604
HP:0000001	All	30008	EFEMP2	OMIM:614437
HP:0000001	All	10084	PQBP1	ORPHA:93946
HP:0000001	All	79693	YRDC	OMIM:619609
HP:0000001	All	1146	CHRNG	OMIM:265000
HP:0000001	All	284058	KANSL1	ORPHA:363958
HP:0000001	All	284058	KANSL1	ORPHA:363965
HP:0000001	All	1272	CNTN1	OMIM:612540
HP:0000001	All	1312	COMT	ORPHA:567
HP:0000001	All	221037	JMJD1C	ORPHA:567
HP:0000001	All	2812	GP1BB	ORPHA:567
HP:0000001	All	6239	RREB1	ORPHA:567
HP:0000001	All	7290	HIRA	ORPHA:567
HP:0000001	All	9632	SEC24C	ORPHA:567
HP:0000001	All	7353	UFD1	ORPHA:567
HP:0000001	All	421	ARVCF	ORPHA:567
HP:0000001	All	444	ASPH	OMIM:601552
HP:0000001	All	79576	NKAP	OMIM:301039
HP:0000001	All	3188	HNRNPH2	OMIM:300986
HP:0000001	All	25	ABL1	OMIM:617602
HP:0000001	All	23152	CIC	OMIM:617600
HP:0000001	All	649	BMP1	OMIM:614856
HP:0000001	All	89910	UBE3B	ORPHA:2707
HP:0000001	All	165	AEBP1	ORPHA:536532
HP:0000001	All	11285	B4GALT7	ORPHA:75496
HP:0000001	All	11285	B4GALT7	OMIM:130070
HP:0000001	All	1798	DPAGT1	ORPHA:86309
HP:0000001	All	490	ATP2B1	OMIM:619910
HP:0000001	All	81031	SLC2A10	ORPHA:3342
HP:0000001	All	81031	SLC2A10	OMIM:208050
HP:0000001	All	4534	MTM1	OMIM:310400
HP:0000001	All	5184	PEPD	ORPHA:742
HP:0000001	All	715	C1R	OMIM:130080
HP:0000001	All	60676	PAPPA2	OMIM:619489
HP:0000001	All	1742	DLG4	OMIM:618793
HP:0000001	All	6605	SMARCE1	OMIM:616938
HP:0000001	All	11107	PRDM5	ORPHA:90354
HP:0000001	All	84627	ZNF469	ORPHA:90354
HP:0000001	All	139285	AMER1	OMIM:300373
HP:0000001	All	4677	NARS1	OMIM:619092
HP:0000001	All	2193	FARSA	OMIM:619013
HP:0000001	All	4087	SMAD2	OMIM:619656
HP:0000001	All	4087	SMAD2	ORPHA:91387
HP:0000001	All	29893	PSMC3IP	ORPHA:243
HP:0000001	All	171568	POLR3H	ORPHA:243
HP:0000001	All	2516	NR5A1	ORPHA:243
HP:0000001	All	125150	ZSWIM7	ORPHA:243
HP:0000001	All	9210	BMP15	ORPHA:243
HP:0000001	All	23514	SPIDR	ORPHA:243
HP:0000001	All	2492	FSHR	ORPHA:243
HP:0000001	All	56945	MRPS22	ORPHA:243
HP:0000001	All	646	BNC1	ORPHA:243
HP:0000001	All	55553	SOX6	OMIM:618971
HP:0000001	All	4883	NPR3	OMIM:619543
HP:0000001	All	7043	TGFB3	OMIM:615582
HP:0000001	All	7043	TGFB3	ORPHA:91387
HP:0000001	All	7046	TGFBR1	ORPHA:60030
HP:0000001	All	7046	TGFBR1	OMIM:609192
HP:0000001	All	7046	TGFBR1	ORPHA:91387
HP:0000001	All	56603	CYP26B1	OMIM:614416
HP:0000001	All	7042	TGFB2	OMIM:614816
HP:0000001	All	7042	TGFB2	ORPHA:91387
HP:0000001	All	4629	MYH11	ORPHA:91387
HP:0000001	All	4015	LOX	ORPHA:91387
HP:0000001	All	59	ACTA2	ORPHA:91387
HP:0000001	All	5592	PRKG1	ORPHA:91387
HP:0000001	All	2301	FOXE3	ORPHA:91387
HP:0000001	All	4144	MAT2A	ORPHA:91387
HP:0000001	All	23493	HEY2	ORPHA:91387
HP:0000001	All	4638	MYLK	ORPHA:91387
HP:0000001	All	57465	TBC1D24	ORPHA:79500
HP:0000001	All	134218	DNAJC21	ORPHA:811
HP:0000001	All	79631	EFL1	ORPHA:811
HP:0000001	All	51119	SBDS	ORPHA:811
HP:0000001	All	6729	SRP54	ORPHA:811
HP:0000001	All	6926	TBX3	ORPHA:3138
HP:0000001	All	54808	DYM	OMIM:223800
HP:0000001	All	1280	COL2A1	OMIM:271700
HP:0000001	All	3930	LBR	OMIM:215140
HP:0000001	All	4921	DDR2	OMIM:271665
HP:0000001	All	3549	IHH	OMIM:112500
HP:0000001	All	2245	FGD1	OMIM:305400
HP:0000001	All	2245	FGD1	ORPHA:915
HP:0000001	All	9131	AIFM1	OMIM:300232
HP:0000001	All	10743	RAI1	OMIM:182290
HP:0000001	All	145173	B3GLCT	OMIM:261540
HP:0000001	All	23135	KDM6B	OMIM:618505
HP:0000001	All	54880	BCOR	ORPHA:2712
HP:0000001	All	1778	DYNC1H1	OMIM:614563
HP:0000001	All	4796	TONSL	ORPHA:93357
HP:0000001	All	5745	PTH1R	ORPHA:79106
HP:0000001	All	79718	TBL1XR1	OMIM:602342
HP:0000001	All	2200	FBN1	OMIM:608328
HP:0000001	All	2623	GATA1	OMIM:190685
HP:0000001	All	5277	PIGA	OMIM:300868
HP:0000001	All	55012	PPP2R3C	OMIM:618419
HP:0000001	All	23384	SPECC1L	OMIM:145420
HP:0000001	All	22907	DHX30	OMIM:617804
HP:0000001	All	2719	GPC3	OMIM:312870
HP:0000001	All	2239	GPC4	OMIM:312870
HP:0000001	All	5573	PRKAR1A	OMIM:101800
HP:0000001	All	2799	GNS	OMIM:252940
HP:0000001	All	2273	FHL1	OMIM:300280
HP:0000001	All	55343	SLC35C1	ORPHA:99843
HP:0000001	All	81794	ADAMTS10	OMIM:277600
HP:0000001	All	64840	PORCN	OMIM:305600
HP:0000001	All	64840	PORCN	ORPHA:2092
HP:0000001	All	6910	TBX5	ORPHA:392
HP:0000001	All	3094	HINT1	ORPHA:324442
HP:0000001	All	22880	MORC2	OMIM:616688
HP:0000001	All	1001	CDH3	OMIM:225280
HP:0000001	All	8626	TP63	OMIM:604292
HP:0000001	All	8626	TP63	ORPHA:2440
HP:0000001	All	8626	TP63	OMIM:103285
HP:0000001	All	8626	TP63	OMIM:603543
HP:0000001	All	8626	TP63	OMIM:605289
HP:0000001	All	8626	TP63	ORPHA:1896
HP:0000001	All	4047	LSS	ORPHA:2850
HP:0000001	All	197	AHSG	ORPHA:2850
HP:0000001	All	3694	ITGB6	ORPHA:2850
HP:0000001	All	79581	SLC52A2	OMIM:614707
HP:0000001	All	411	ARSB	OMIM:253200
HP:0000001	All	9150	CTDP1	OMIM:604168
HP:0000001	All	56704	JPH1	OMIM:607831
HP:0000001	All	51776	MAP3K20	OMIM:616890
HP:0000001	All	1750	DLX6	ORPHA:2440
HP:0000001	All	7979	SEM1	ORPHA:2440
HP:0000001	All	8945	BTRC	ORPHA:2440
HP:0000001	All	58513	EPS15L1	ORPHA:2440
HP:0000001	All	6468	FBXW4	ORPHA:2440
HP:0000001	All	7480	WNT10B	ORPHA:2440
HP:0000001	All	7480	WNT10B	OMIM:225300
HP:0000001	All	1749	DLX5	ORPHA:2440
HP:0000001	All	1749	DLX5	OMIM:183600
HP:0000001	All	1749	DLX5	OMIM:220600
HP:0000001	All	1717	DHCR7	ORPHA:818
HP:0000001	All	79158	GNPTAB	OMIM:252500
HP:0000001	All	79158	GNPTAB	OMIM:252600
HP:0000001	All	3516	RBPJ	ORPHA:974
HP:0000001	All	4851	NOTCH1	ORPHA:974
HP:0000001	All	57514	ARHGAP31	ORPHA:974
HP:0000001	All	57572	DOCK6	ORPHA:974
HP:0000001	All	285203	EOGT	ORPHA:974
HP:0000001	All	54567	DLL4	ORPHA:974
HP:0000001	All	8888	MCM3AP	OMIM:618124
HP:0000001	All	3423	IDS	OMIM:309900
HP:0000001	All	3664	IRF6	ORPHA:1300
HP:0000001	All	374969	SVBP	OMIM:618569
HP:0000001	All	3295	HSD17B4	OMIM:261515
HP:0000001	All	7476	WNT7A	OMIM:276820
HP:0000001	All	1509	CTSD	OMIM:610127
HP:0000001	All	64359	NXN	ORPHA:1507
HP:0000001	All	4920	ROR2	ORPHA:1507
HP:0000001	All	4313	MMP2	OMIM:259600
HP:0000001	All	2260	FGFR1	ORPHA:2117
HP:0000001	All	10397	NDRG1	ORPHA:99950
HP:0000001	All	2189	FANCG	OMIM:614082
HP:0000001	All	2189	FANCG	ORPHA:84
HP:0000001	All	80207	OPA3	ORPHA:67036
HP:0000001	All	9968	MED12	ORPHA:93932
HP:0000001	All	8200	GDF5	ORPHA:2639
HP:0000001	All	658	BMPR1B	ORPHA:2639
HP:0000001	All	672	BRCA1	ORPHA:84
HP:0000001	All	10459	MAD2L2	ORPHA:84
HP:0000001	All	7516	XRCC2	ORPHA:84
HP:0000001	All	29089	UBE2T	ORPHA:84
HP:0000001	All	675	BRCA2	ORPHA:84
HP:0000001	All	55120	FANCL	ORPHA:84
HP:0000001	All	2175	FANCA	ORPHA:84
HP:0000001	All	2187	FANCB	ORPHA:84
HP:0000001	All	2176	FANCC	ORPHA:84
HP:0000001	All	2178	FANCE	ORPHA:84
HP:0000001	All	2188	FANCF	ORPHA:84
HP:0000001	All	5888	RAD51	ORPHA:84
HP:0000001	All	5889	RAD51C	ORPHA:84
HP:0000001	All	55159	RFWD3	ORPHA:84
HP:0000001	All	83990	BRIP1	ORPHA:84
HP:0000001	All	57697	FANCM	ORPHA:84
HP:0000001	All	79728	PALB2	ORPHA:84
HP:0000001	All	84464	SLX4	ORPHA:84
HP:0000001	All	2072	ERCC4	ORPHA:84
HP:0000001	All	55215	FANCI	ORPHA:84
HP:0000001	All	64093	SMOC1	ORPHA:1106
HP:0000001	All	2261	FGFR3	OMIM:620192
HP:0000001	All	2261	FGFR3	ORPHA:2363
HP:0000001	All	23111	SPART	ORPHA:101000
HP:0000001	All	25942	SIN3A	ORPHA:94065
HP:0000001	All	1193	CLIC2	ORPHA:324410
HP:0000001	All	860	RUNX2	ORPHA:1452
HP:0000001	All	2255	FGF10	ORPHA:2363
HP:0000001	All	6469	SHH	ORPHA:93321
HP:0000001	All	6197	RPS6KA3	ORPHA:192
HP:0000001	All	6197	RPS6KA3	ORPHA:276630
HP:0000001	All	8925	HERC1	OMIM:617011
HP:0000001	All	5447	POR	OMIM:201750
HP:0000001	All	23512	SUZ12	OMIM:618786
HP:0000001	All	23512	SUZ12	ORPHA:3447
HP:0000001	All	9158	FIBP	ORPHA:500095
HP:0000001	All	9158	FIBP	OMIM:617107
HP:0000001	All	26580	BSCL2	OMIM:269700
HP:0000001	All	26580	BSCL2	ORPHA:528
HP:0000001	All	100151683	RNU4ATAC	OMIM:210710
HP:0000001	All	100151683	RNU4ATAC	ORPHA:2636
HP:0000001	All	3643	INSR	ORPHA:508
HP:0000001	All	3643	INSR	OMIM:246200
HP:0000001	All	5189	PEX1	ORPHA:3220
HP:0000001	All	5190	PEX6	ORPHA:3220
HP:0000001	All	85358	SHANK3	OMIM:606232
HP:0000001	All	85358	SHANK3	ORPHA:48652
HP:0000001	All	11128	POLR3A	OMIM:264090
HP:0000001	All	64324	NSD1	ORPHA:821
HP:0000001	All	64324	NSD1	OMIM:117550
HP:0000001	All	64324	NSD1	ORPHA:3447
HP:0000001	All	29072	SETD2	ORPHA:821
HP:0000001	All	10297	APC2	ORPHA:821
HP:0000001	All	55690	PACS1	OMIM:615009
HP:0000001	All	4221	MEN1	ORPHA:99725
HP:0000001	All	9049	AIP	ORPHA:99725
HP:0000001	All	9049	AIP	ORPHA:963
HP:0000001	All	8242	KDM5C	OMIM:300534
HP:0000001	All	440	ASNS	OMIM:615574
HP:0000001	All	9487	PIGL	OMIM:280000
HP:0000001	All	2146	EZH2	OMIM:277590
HP:0000001	All	2146	EZH2	ORPHA:3447
HP:0000001	All	5468	PPARG	ORPHA:528
HP:0000001	All	10555	AGPAT2	ORPHA:528
HP:0000001	All	10555	AGPAT2	OMIM:608594
HP:0000001	All	284119	CAVIN1	ORPHA:528
HP:0000001	All	2353	FOS	ORPHA:528
HP:0000001	All	857	CAV1	ORPHA:528
HP:0000001	All	83550	GPR101	ORPHA:963
HP:0000001	All	8726	EED	ORPHA:3447
HP:0000001	All	8726	EED	OMIM:617561
HP:0000001	All	6390	SDHB	OMIM:606764
HP:0000001	All	6391	SDHC	OMIM:606764
HP:0000001	All	3815	KIT	OMIM:606764
HP:0000001	All	4763	NF1	ORPHA:363700
HP:0000001	All	4763	NF1	ORPHA:97685
HP:0000001	All	372	ARCN1	OMIM:617164
HP:0000001	All	57167	SALL4	ORPHA:233
HP:0000001	All	57167	SALL4	ORPHA:959
HP:0000001	All	57167	SALL4	ORPHA:2307
HP:0000001	All	9935	MAFB	ORPHA:233
HP:0000001	All	1123	CHN1	ORPHA:233
HP:0000001	All	2137	EXTL3	ORPHA:508533
HP:0000001	All	22827	PUF60	ORPHA:508498
HP:0000001	All	65250	CPLANE1	OMIM:277170
HP:0000001	All	6608	SMO	OMIM:601707
HP:0000001	All	6608	SMO	ORPHA:1553
HP:0000001	All	4750	NEK1	OMIM:263520
HP:0000001	All	2737	GLI3	OMIM:175700
HP:0000001	All	2737	GLI3	ORPHA:380
HP:0000001	All	2737	GLI3	OMIM:174200
HP:0000001	All	64327	LMBR1	ORPHA:2378
HP:0000001	All	64327	LMBR1	OMIM:174500
HP:0000001	All	55027	HEATR3	OMIM:620072
HP:0000001	All	6299	SALL1	OMIM:107480
HP:0000001	All	6299	SALL1	ORPHA:857
HP:0000001	All	55112	DYNC2I1	ORPHA:93271
HP:0000001	All	57560	IFT80	ORPHA:93271
HP:0000001	All	57539	WDR35	ORPHA:93271
HP:0000001	All	79659	DYNC2H1	ORPHA:93271
HP:0000001	All	89891	DYNC2I2	ORPHA:93271
HP:0000001	All	374879	ZNF699	OMIM:619488
HP:0000001	All	374654	KIF7	OMIM:200990
HP:0000001	All	8318	CDC45	OMIM:617063
HP:0000001	All	51339	DACT1	ORPHA:857
HP:0000001	All	2177	FANCD2	OMIM:227646
HP:0000001	All	727857	BHLHA9	ORPHA:3329
HP:0000001	All	23133	PHF8	ORPHA:85287
HP:0000001	All	8481	OFD1	ORPHA:2750
HP:0000001	All	219844	HYLS1	OMIM:236680
HP:0000001	All	26123	TCTN3	ORPHA:2753
HP:0000001	All	26123	TCTN3	ORPHA:564
HP:0000001	All	2697	GJA1	ORPHA:2710
HP:0000001	All	3239	HOXD13	ORPHA:887
HP:0000001	All	7020	TFAP2A	OMIM:113620
HP:0000001	All	7020	TFAP2A	ORPHA:1297
HP:0000001	All	84314	TMEM107	ORPHA:564
HP:0000001	All	79867	TCTN2	ORPHA:564
HP:0000001	All	80776	B9D2	ORPHA:564
HP:0000001	All	79600	TCTN1	ORPHA:564
HP:0000001	All	57096	RPGRIP1	ORPHA:564
HP:0000001	All	79848	CSPP1	ORPHA:564
HP:0000001	All	80184	CEP290	ORPHA:564
HP:0000001	All	51259	TMEM216	ORPHA:564
HP:0000001	All	57545	CC2D2A	ORPHA:564
HP:0000001	All	79583	TMEM231	ORPHA:564
HP:0000001	All	91147	TMEM67	ORPHA:564
HP:0000001	All	79770	TXNDC15	ORPHA:564
HP:0000001	All	27077	B9D1	ORPHA:564
HP:0000001	All	23322	RPGRIP1L	ORPHA:564
HP:0000001	All	54903	MKS1	ORPHA:564
HP:0000001	All	65062	TMEM237	ORPHA:564
HP:0000001	All	10815	CPLX1	ORPHA:280
HP:0000001	All	10815	CPLX1	OMIM:194190
HP:0000001	All	54872	PIGG	ORPHA:280
HP:0000001	All	7469	NELFA	ORPHA:280
HP:0000001	All	1487	CTBP1	ORPHA:280
HP:0000001	All	1487	CTBP1	OMIM:194190
HP:0000001	All	3954	LETM1	ORPHA:280
HP:0000001	All	3954	LETM1	OMIM:194190
HP:0000001	All	7468	NSD2	ORPHA:280
HP:0000001	All	7468	NSD2	OMIM:194190
HP:0000001	All	2735	GLI1	OMIM:174400
HP:0000001	All	53834	FGFRL1	OMIM:194190
HP:0000001	All	9343	EFTUD2	OMIM:610536
HP:0000001	All	9343	EFTUD2	ORPHA:79113
HP:0000001	All	2263	FGFR2	OMIM:101200
HP:0000001	All	54332	GDAP1	OMIM:607706
HP:0000001	All	54332	GDAP1	OMIM:214400
HP:0000001	All	54332	GDAP1	OMIM:608340
HP:0000001	All	5376	PMP22	OMIM:118220
HP:0000001	All	5376	PMP22	OMIM:145900
HP:0000001	All	4747	NEFL	OMIM:607684
HP:0000001	All	3315	HSPB1	OMIM:606595
HP:0000001	All	4359	MPZ	OMIM:118200
HP:0000001	All	4359	MPZ	OMIM:145900
HP:0000001	All	1959	EGR2	OMIM:145900
HP:0000001	All	57716	PRX	OMIM:145900
HP:0000001	All	4358	MPV17	OMIM:618400
HP:0000001	All	81846	SBF2	OMIM:604563
HP:0000001	All	157570	ESCO2	OMIM:268300
HP:0000001	All	9401	RECQL4	ORPHA:1225
HP:0000001	All	25836	NIPBL	OMIM:122470
HP:0000001	All	6154	RPL26	OMIM:614900
HP:0000001	All	10262	SF3B4	ORPHA:1788
HP:0000001	All	1802	DPH2	OMIM:620062
HP:0000001	All	91949	COG7	OMIM:608779
HP:0000001	All	91949	COG7	ORPHA:79333
HP:0000001	All	27238	GPKOW	ORPHA:2570
HP:0000001	All	23141	ANKLE2	OMIM:616681
HP:0000001	All	29895	MYL11	OMIM:619110
HP:0000001	All	5393	EXOSC9	OMIM:618065
HP:0000001	All	55627	SMPD4	OMIM:618622
HP:0000001	All	6804	STX1A	ORPHA:904
HP:0000001	All	7461	CLIP2	ORPHA:904
HP:0000001	All	84277	DNAJC30	ORPHA:904
HP:0000001	All	8468	FKBP6	ORPHA:904
HP:0000001	All	5982	RFC2	ORPHA:904
HP:0000001	All	2969	GTF2I	ORPHA:904
HP:0000001	All	3984	LIMK1	ORPHA:904
HP:0000001	All	9569	GTF2IRD1	ORPHA:904
HP:0000001	All	155382	VPS37D	ORPHA:904
HP:0000001	All	155368	METTL27	ORPHA:904
HP:0000001	All	114049	BUD23	ORPHA:904
HP:0000001	All	7458	EIF4H	ORPHA:904
HP:0000001	All	84163	GTF2IRD2	ORPHA:904
HP:0000001	All	9275	BCL7B	ORPHA:904
HP:0000001	All	26608	TBL2	ORPHA:904
HP:0000001	All	653361	NCF1	ORPHA:904
HP:0000001	All	135886	TMEM270	ORPHA:904
HP:0000001	All	51085	MLXIPL	ORPHA:904
HP:0000001	All	9031	BAZ1B	ORPHA:904
HP:0000001	All	2006	ELN	ORPHA:904
HP:0000001	All	2006	ELN	ORPHA:90348
HP:0000001	All	5832	ALDH18A1	OMIM:616603
HP:0000001	All	5832	ALDH18A1	OMIM:219150
HP:0000001	All	5832	ALDH18A1	ORPHA:90348
HP:0000001	All	347734	SLC35B2	OMIM:620269
HP:0000001	All	84992	PIGY	OMIM:616809
HP:0000001	All	1291	COL6A1	ORPHA:75840
HP:0000001	All	1292	COL6A2	ORPHA:75840
HP:0000001	All	1293	COL6A3	ORPHA:75840
HP:0000001	All	9839	ZEB2	ORPHA:261537
HP:0000001	All	9839	ZEB2	ORPHA:261552
HP:0000001	All	215	ABCD1	ORPHA:388
HP:0000001	All	5979	RET	ORPHA:388
HP:0000001	All	2668	GDNF	ORPHA:388
HP:0000001	All	6720	SREBF1	ORPHA:388
HP:0000001	All	1908	EDN3	ORPHA:388
HP:0000001	All	223117	SEMA3D	ORPHA:388
HP:0000001	All	538	ATP7A	ORPHA:388
HP:0000001	All	1910	EDNRB	ORPHA:388
HP:0000001	All	10512	SEMA3C	ORPHA:388
HP:0000001	All	2064	ERBB2	ORPHA:388
HP:0000001	All	2065	ERBB3	ORPHA:388
HP:0000001	All	4902	NRTN	ORPHA:388
HP:0000001	All	10479	SLC9A6	OMIM:300243
HP:0000001	All	10479	SLC9A6	ORPHA:85278
HP:0000001	All	91754	NEK9	OMIM:617022
HP:0000001	All	5649	RELN	ORPHA:89844
HP:0000001	All	54820	NDE1	ORPHA:89844
HP:0000001	All	6472	SHMT2	OMIM:619121
HP:0000001	All	58	ACTA1	ORPHA:171430
HP:0000001	All	131377	KLHL40	ORPHA:171430
HP:0000001	All	10324	KLHL41	ORPHA:171430
HP:0000001	All	56203	LMOD3	ORPHA:171430
HP:0000001	All	26227	PHGDH	OMIM:601815
HP:0000001	All	26227	PHGDH	ORPHA:79351
HP:0000001	All	202018	TAPT1	OMIM:616897
HP:0000001	All	2201	FBN2	OMIM:121050
HP:0000001	All	91869	RFT1	OMIM:612015
HP:0000001	All	2033	EP300	ORPHA:353284
HP:0000001	All	4621	MYH3	OMIM:618436
HP:0000001	All	4621	MYH3	OMIM:193700
HP:0000001	All	4621	MYH3	ORPHA:1147
HP:0000001	All	4621	MYH3	ORPHA:1146
HP:0000001	All	388015	RTL1	ORPHA:96334
HP:0000001	All	8788	DLK1	ORPHA:96334
HP:0000001	All	55384	MEG3	ORPHA:96334
HP:0000001	All	2067	ERCC1	OMIM:610758
HP:0000001	All	9179	AP4M1	OMIM:612936
HP:0000001	All	126792	B3GALT6	ORPHA:536467
HP:0000001	All	50515	CHST11	OMIM:618167
HP:0000001	All	79868	ALG13	ORPHA:324422
HP:0000001	All	259232	NALCN	OMIM:616266
HP:0000001	All	259232	NALCN	ORPHA:1147
HP:0000001	All	259232	NALCN	ORPHA:1146
HP:0000001	All	23483	TGDS	OMIM:616145
HP:0000001	All	729920	CRPPA	OMIM:614643
HP:0000001	All	7136	TNNI2	ORPHA:1147
HP:0000001	All	7136	TNNI2	ORPHA:1146
HP:0000001	All	10273	STUB1	ORPHA:412057
HP:0000001	All	1387	CREBBP	ORPHA:353277
HP:0000001	All	4604	MYBPC1	ORPHA:1146
HP:0000001	All	10516	FBLN5	ORPHA:90348
HP:0000001	All	81857	MED25	ORPHA:464738
HP:0000001	All	57211	ADGRG6	OMIM:616503
HP:0000001	All	9939	RBM8A	ORPHA:3320
HP:0000001	All	9939	RBM8A	OMIM:274000
HP:0000001	All	10195	ALG3	OMIM:601110
HP:0000001	All	10943	MSL3	OMIM:301032
HP:0000001	All	3977	LIFR	OMIM:601559
HP:0000001	All	9427	ECEL1	OMIM:615065
HP:0000001	All	6999	TDO2	OMIM:600627
HP:0000001	All	84896	ATAD1	OMIM:618011
HP:0000001	All	2036	EPB41L1	OMIM:614257
HP:0000001	All	51002	TPRKB	ORPHA:2065
HP:0000001	All	55644	OSGEP	ORPHA:2065
HP:0000001	All	57122	NUP107	ORPHA:2065
HP:0000001	All	10785	WDR4	ORPHA:2065
HP:0000001	All	55746	NUP133	ORPHA:2065
HP:0000001	All	8270	LAGE3	ORPHA:2065
HP:0000001	All	8367	H4C5	OMIM:619950
HP:0000001	All	9853	RUSC2	OMIM:617773
HP:0000001	All	23019	CNOT1	OMIM:619033
HP:0000001	All	26128	KIFBP	OMIM:609460
HP:0000001	All	2972	BRF1	OMIM:616202
HP:0000001	All	2972	BRF1	ORPHA:444072
HP:0000001	All	56916	SMARCAD1	OMIM:129200
HP:0000001	All	56916	SMARCAD1	OMIM:181600
HP:0000001	All	9578	CDC42BPB	OMIM:619841
HP:0000001	All	3020	H3-3A	OMIM:619720
HP:0000001	All	170302	ARX	OMIM:300004
HP:0000001	All	3021	H3-3B	OMIM:619721
HP:0000001	All	10300	KATNB1	OMIM:616212
HP:0000001	All	2624	GATA2	OMIM:614038
HP:0000001	All	55904	KMT2E	OMIM:618512
HP:0000001	All	10978	CLP1	OMIM:615803
HP:0000001	All	55650	PIGV	OMIM:239300
HP:0000001	All	6335	SCN9A	ORPHA:970
HP:0000001	All	65125	WNK1	ORPHA:970
HP:0000001	All	54463	RETREG1	ORPHA:970
HP:0000001	All	547	KIF1A	ORPHA:970
HP:0000001	All	547	KIF1A	ORPHA:2836
HP:0000001	All	6595	SMARCA2	OMIM:619293
HP:0000001	All	80204	FBXO11	OMIM:618089
HP:0000001	All	113189	CHST14	ORPHA:2953
HP:0000001	All	29940	DSE	ORPHA:2953
HP:0000001	All	1889	ECE1	OMIM:613870
HP:0000001	All	9326	ZNHIT3	ORPHA:2836
HP:0000001	All	9326	ZNHIT3	OMIM:260565
HP:0000001	All	2770	GNAI1	OMIM:619854
HP:0000001	All	157680	VPS13B	OMIM:216550
HP:0000001	All	157680	VPS13B	ORPHA:193
HP:0000001	All	2626	GATA4	ORPHA:251071
HP:0000001	All	84823	LMNB2	OMIM:619180
HP:0000001	All	9896	FIG4	ORPHA:3472
HP:0000001	All	9896	FIG4	OMIM:216340
HP:0000001	All	55697	VAC14	ORPHA:3472
HP:0000001	All	1656	DDX6	OMIM:618653
HP:0000001	All	4297	KMT2A	ORPHA:319182
HP:0000001	All	4297	KMT2A	OMIM:605130
HP:0000001	All	57178	ZMIZ1	OMIM:618659
HP:0000001	All	6792	CDKL5	OMIM:300672
HP:0000001	All	7025	NR2F1	ORPHA:401777
HP:0000001	All	7025	NR2F1	OMIM:615722
HP:0000001	All	253738	EBF3	OMIM:617330
HP:0000001	All	55699	IARS2	OMIM:616007
HP:0000001	All	8239	USP9X	ORPHA:480880
HP:0000001	All	8239	USP9X	OMIM:300968
HP:0000001	All	285175	UNC80	OMIM:616801
HP:0000001	All	79753	SNIP1	OMIM:614501
HP:0000001	All	6134	RPL10	ORPHA:459070
HP:0000001	All	6134	RPL10	OMIM:300998
HP:0000001	All	6134	RPL10	ORPHA:435938
HP:0000001	All	1859	DYRK1A	ORPHA:464311
HP:0000001	All	1859	DYRK1A	ORPHA:268261
HP:0000001	All	1303	COL12A1	ORPHA:536516
HP:0000001	All	51611	DPH5	OMIM:620070
HP:0000001	All	79813	EHMT1	ORPHA:261652
HP:0000001	All	58508	KMT2C	ORPHA:261652
HP:0000001	All	4094	MAF	ORPHA:1272
HP:0000001	All	4094	MAF	OMIM:601088
HP:0000001	All	7750	ZMYM2	OMIM:619522
HP:0000001	All	5594	MAPK1	OMIM:619087
HP:0000001	All	4849	CNOT3	OMIM:618672
HP:0000001	All	6942	TCF20	OMIM:618430
HP:0000001	All	81887	LAS1L	ORPHA:3459
HP:0000001	All	81887	LAS1L	OMIM:309585
HP:0000001	All	55869	HDAC8	ORPHA:3459
HP:0000001	All	7140	TNNT3	OMIM:618435
HP:0000001	All	6925	TCF4	OMIM:610954
HP:0000001	All	6925	TCF4	ORPHA:2896
HP:0000001	All	7030	TFE3	OMIM:301066
HP:0000001	All	546	ATRX	OMIM:309580
HP:0000001	All	546	ATRX	OMIM:301040
HP:0000001	All	84295	PHF6	ORPHA:127
HP:0000001	All	84295	PHF6	OMIM:301900
HP:0000001	All	91252	SLC39A13	ORPHA:157965
HP:0000001	All	91252	SLC39A13	OMIM:612350
HP:0000001	All	55023	PHIP	ORPHA:589905
HP:0000001	All	55023	PHIP	OMIM:617991
HP:0000001	All	9230	RAB11B	OMIM:617807
HP:0000001	All	389827	MYMK	OMIM:254940
HP:0000001	All	10075	HUWE1	OMIM:309590
HP:0000001	All	9488	PIGB	OMIM:618580
HP:0000001	All	8243	SMC1A	OMIM:301044
HP:0000001	All	23013	SPEN	OMIM:619312
HP:0000001	All	56896	DPYSL5	OMIM:619435
HP:0000001	All	9698	PUM1	OMIM:617931
HP:0000001	All	23394	ADNP	OMIM:615873
HP:0000001	All	23028	KDM1A	OMIM:616728
HP:0000001	All	23028	KDM1A	ORPHA:477993
HP:0000001	All	5575	PRKAR1B	OMIM:619680
HP:0000001	All	91179	SCARF2	OMIM:600920
HP:0000001	All	6492	SIM1	ORPHA:171829
HP:0000001	All	4953	ODC1	ORPHA:544488
HP:0000001	All	998	CDC42	OMIM:616737
HP:0000001	All	998	CDC42	ORPHA:487796
HP:0000001	All	3097	HIVEP2	OMIM:616977
HP:0000001	All	10982	MAPRE2	OMIM:616734
HP:0000001	All	4131	MAP1B	OMIM:618918
HP:0000001	All	56915	EXOSC5	OMIM:619576
HP:0000001	All	10588	MTHFS	OMIM:618367
HP:0000001	All	63035	BCORL1	OMIM:301029
HP:0000001	All	10265	IRX5	OMIM:611174
HP:0000001	All	1108	CHD4	OMIM:617159
HP:0000001	All	91137	SLC25A46	OMIM:616505
HP:0000001	All	8604	SLC25A12	OMIM:612949
HP:0000001	All	7703	PCGF2	OMIM:618371
HP:0000001	All	83696	TRAPPC9	ORPHA:352530
HP:0000001	All	92949	ADAMTSL1	ORPHA:521445
HP:0000001	All	54551	MAGEL2	OMIM:615547
HP:0000001	All	2707	GJB3	ORPHA:317
HP:0000001	All	2531	KDSR	ORPHA:317
HP:0000001	All	127534	GJB4	ORPHA:317
HP:0000001	All	9244	CRLF1	OMIM:272430
HP:0000001	All	8812	CCNK	OMIM:618147
HP:0000001	All	112858	TP53RK	OMIM:617730
HP:0000001	All	7204	TRIO	OMIM:618825
HP:0000001	All	7204	TRIO	OMIM:617061
HP:0000001	All	7204	TRIO	ORPHA:476126
HP:0000001	All	9894	TELO2	ORPHA:488642
HP:0000001	All	80036	TRPM3	OMIM:620224
HP:0000001	All	8936	WASF1	OMIM:618707
HP:0000001	All	8405	SPOP	OMIM:618829
HP:0000001	All	23630	KCNE5	ORPHA:86818
HP:0000001	All	2182	ACSL4	ORPHA:86818
HP:0000001	All	9949	AMMECR1	ORPHA:86818
HP:0000001	All	11198	SUPT16H	OMIM:619480
HP:0000001	All	23556	PIGN	ORPHA:280633
HP:0000001	All	23067	SETD1B	OMIM:619000
HP:0000001	All	23233	EXOC6B	OMIM:618395
HP:0000001	All	5075	PAX1	OMIM:615560
HP:0000001	All	55704	CCDC88A	OMIM:617507
HP:0000001	All	1376	CPT2	OMIM:608836
HP:0000001	All	1315	COPB1	OMIM:619255
HP:0000001	All	51317	PHF21A	OMIM:618725
HP:0000001	All	1968	EIF2S3	ORPHA:85282
HP:0000001	All	5557	PRIM1	OMIM:620005
HP:0000001	All	1795	DOCK3	OMIM:618292
HP:0000001	All	3636	INPPL1	ORPHA:2746
HP:0000001	All	11342	RNF13	ORPHA:544503
HP:0000001	All	9990	SLC12A6	OMIM:218000
HP:0000001	All	9791	PTDSS1	OMIM:151050
HP:0000001	All	9759	HDAC4	OMIM:619797
HP:0000001	All	3756	KCNH1	OMIM:135500
HP:0000001	All	57479	PRR12	OMIM:619539
HP:0000001	All	6611	SMS	OMIM:309583
HP:0000001	All	673	BRAF	OMIM:115150
HP:0000001	All	91461	PKDCC	OMIM:618821
HP:0000001	All	92344	GORAB	OMIM:231070
HP:0000001	All	54499	TMCO1	OMIM:213980
HP:0000001	All	387733	IFITM5	OMIM:610967
HP:0000001	All	51633	OTUD6B	ORPHA:505237
HP:0000001	All	23114	NFASC	OMIM:618356
HP:0000001	All	1289	COL5A1	OMIM:130000
HP:0000001	All	1278	COL1A2	OMIM:617821
HP:0000001	All	427	ASAH1	OMIM:228000
HP:0000001	All	9373	PLAA	ORPHA:521426
HP:0000001	All	2783	GNB2	OMIM:619503
HP:0000001	All	3265	HRAS	OMIM:218040
HP:0000001	All	121340	SP7	OMIM:613849
HP:0000001	All	7169	TPM2	OMIM:108120
HP:0000001	All	3187	HNRNPH1	OMIM:620083
HP:0000001	All	8506	CNTNAP1	OMIM:618186
HP:0000001	All	1020	CDK5	OMIM:616342
HP:0000001	All	56006	SMG9	OMIM:616920
HP:0000001	All	2733	GLE1	OMIM:611890
HP:0000001	All	1861	TOR1A	OMIM:618947
HP:0000001	All	55681	SCYL2	OMIM:618766
HP:0000001	All	84942	WDR73	OMIM:251300
HP:0000001	All	7841	MOGS	OMIM:606056
HP:0000001	All	4703	NEB	OMIM:256030
HP:0000001	All	23345	SYNE1	ORPHA:319332
HP:0000001	All	23299	BICD2	OMIM:618291
HP:0000001	All	2317	FLNB	ORPHA:56305
HP:0000001	All	2898	GRIK2	OMIM:619580
HP:0000001	All	57498	KIDINS220	OMIM:619501
HP:0000001	All	80816	ASXL3	OMIM:615485
HP:0000001	All	6536	SLC6A9	OMIM:617301
HP:0000001	All	51741	WWOX	OMIM:616211
HP:0000001	All	84162	BLTP1	OMIM:617822
HP:0000001	All	667	DST	OMIM:614653
HP:0000001	All	2782	GNB1	OMIM:616973
HP:0000001	All	3897	L1CAM	ORPHA:2466
HP:0000001	All	529	ATP6V1E1	OMIM:617402
HP:0000001	All	4654	MYOD1	OMIM:618975
HP:0000001	All	54676	GTPBP2	OMIM:617988
HP:0000001	All	4137	MAPT	ORPHA:240103
HP:0000001	All	10716	TBR1	ORPHA:1617
HP:0000001	All	3736	KCNA1	ORPHA:37612
HP:0000001	All	51199	NIN	OMIM:614851
HP:0000001	All	51199	NIN	ORPHA:319675
HP:0000001	All	9652	SKIC3	OMIM:222470
HP:0000001	All	2294	FOXF1	OMIM:265380
HP:0000001	All	2294	FOXF1	ORPHA:210122
HP:0000001	All	54870	QRICH1	OMIM:617982
HP:0000001	All	55784	MCTP2	ORPHA:1596
HP:0000001	All	84720	PIGO	ORPHA:247262
HP:0000001	All	93210	PGAP3	ORPHA:247262
HP:0000001	All	284098	PIGW	ORPHA:247262
HP:0000001	All	27315	PGAP2	ORPHA:247262
HP:0000001	All	84231	TRAF7	OMIM:618164
HP:0000001	All	10463	SLC30A9	OMIM:617595
HP:0000001	All	10274	STAG1	OMIM:617635
HP:0000001	All	7473	WNT3	OMIM:273395
HP:0000001	All	5062	PAK2	OMIM:618458
HP:0000001	All	4593	MUSK	OMIM:208150
HP:0000001	All	801	CALM1	ORPHA:101016
HP:0000001	All	3753	KCNE1	ORPHA:101016
HP:0000001	All	805	CALM2	ORPHA:101016
HP:0000001	All	6336	SCN10A	ORPHA:101016
HP:0000001	All	3757	KCNH2	ORPHA:101016
HP:0000001	All	9992	KCNE2	ORPHA:101016
HP:0000001	All	10142	AKAP9	ORPHA:101016
HP:0000001	All	3784	KCNQ1	ORPHA:101016
HP:0000001	All	10345	TRDN	ORPHA:101016
HP:0000001	All	6331	SCN5A	ORPHA:101016
HP:0000001	All	6330	SCN4B	ORPHA:101016
HP:0000001	All	808	CALM3	ORPHA:101016
HP:0000001	All	6640	SNTA1	ORPHA:101016
HP:0000001	All	859	CAV3	ORPHA:101016
HP:0000001	All	287	ANK2	ORPHA:101016
HP:0000001	All	1583	CYP11A1	ORPHA:289548
HP:0000001	All	1583	CYP11A1	ORPHA:168558
HP:0000001	All	6304	SATB1	OMIM:619229
HP:0000001	All	404672	GTF2H5	ORPHA:33364
HP:0000001	All	833	CARS1	ORPHA:33364
HP:0000001	All	7737	RNF113A	ORPHA:33364
HP:0000001	All	136647	MPLKIP	ORPHA:33364
HP:0000001	All	6897	TARS1	ORPHA:33364
HP:0000001	All	2071	ERCC3	ORPHA:33364
HP:0000001	All	2961	GTF2E2	ORPHA:33364
HP:0000001	All	6138	RPL15	OMIM:615550
HP:0000001	All	6138	RPL15	ORPHA:124
HP:0000001	All	6125	RPL5	OMIM:612561
HP:0000001	All	6125	RPL5	ORPHA:124
HP:0000001	All	6223	RPS19	OMIM:105650
HP:0000001	All	6223	RPS19	ORPHA:124
HP:0000001	All	6229	RPS24	ORPHA:124
HP:0000001	All	6204	RPS10	ORPHA:124
HP:0000001	All	6165	RPL35A	ORPHA:124
HP:0000001	All	6232	RPS27	ORPHA:124
HP:0000001	All	11224	RPL35	ORPHA:124
HP:0000001	All	6160	RPL31	ORPHA:124
HP:0000001	All	6218	RPS17	ORPHA:124
HP:0000001	All	6201	RPS7	ORPHA:124
HP:0000001	All	6155	RPL27	ORPHA:124
HP:0000001	All	6210	RPS15A	ORPHA:124
HP:0000001	All	90121	TSR2	ORPHA:124
HP:0000001	All	6141	RPL18	ORPHA:124
HP:0000001	All	6235	RPS29	ORPHA:124
HP:0000001	All	6234	RPS28	ORPHA:124
HP:0000001	All	3782	KCNN3	OMIM:618658
HP:0000001	All	8838	CCN6	ORPHA:1159
HP:0000001	All	23451	SF3B1	ORPHA:75564
HP:0000001	All	284252	KCTD1	ORPHA:2036
HP:0000001	All	3248	HPGD	ORPHA:2796
HP:0000001	All	6578	SLCO2A1	ORPHA:2796
HP:0000001	All	5083	PAX9	OMIM:604625
HP:0000001	All	5333	PLCD1	ORPHA:2387
HP:0000001	All	7189	TRAF6	ORPHA:1810
HP:0000001	All	126695	KDF1	ORPHA:1810
HP:0000001	All	4487	MSX1	ORPHA:2228
HP:0000001	All	1300	COL10A1	ORPHA:174
HP:0000001	All	401474	SAMD12	OMIM:601068
HP:0000001	All	401474	SAMD12	ORPHA:86814
HP:0000001	All	6844	VAMP2	OMIM:618760
HP:0000001	All	4323	MMP14	ORPHA:371428
HP:0000001	All	9211	LGI1	ORPHA:101046
HP:0000001	All	23568	ARL2BP	ORPHA:791
HP:0000001	All	4751	NEK2	ORPHA:791
HP:0000001	All	8100	IFT88	ORPHA:791
HP:0000001	All	23020	SNRNP200	ORPHA:791
HP:0000001	All	762	CA4	ORPHA:791
HP:0000001	All	196	AHR	ORPHA:791
HP:0000001	All	25794	FSCN2	ORPHA:791
HP:0000001	All	7275	TUB	ORPHA:791
HP:0000001	All	768206	PRCD	ORPHA:791
HP:0000001	All	5145	PDE6A	ORPHA:791
HP:0000001	All	2979	GUCA1B	ORPHA:791
HP:0000001	All	1258	CNGB1	ORPHA:791
HP:0000001	All	60509	AGBL5	ORPHA:791
HP:0000001	All	388939	PCARE	ORPHA:791
HP:0000001	All	9129	PRPF3	ORPHA:791
HP:0000001	All	55975	KLHL7	ORPHA:791
HP:0000001	All	55975	KLHL7	OMIM:617055
HP:0000001	All	94137	RP1L1	ORPHA:791
HP:0000001	All	5158	PDE6B	ORPHA:791
HP:0000001	All	114327	EFHC1	ORPHA:307
HP:0000001	All	114327	EFHC1	OMIM:254770
HP:0000001	All	8629	JRK	ORPHA:307
HP:0000001	All	8629	JRK	ORPHA:64280
HP:0000001	All	23043	TNIK	OMIM:617028
HP:0000001	All	162	AP1B1	ORPHA:171851
HP:0000001	All	162	AP1B1	OMIM:242150
HP:0000001	All	128	ADH5	OMIM:619151
HP:0000001	All	83879	CDCA7	OMIM:616910
HP:0000001	All	83879	CDCA7	ORPHA:2268
HP:0000001	All	6949	TCOF1	OMIM:154500
HP:0000001	All	1062	CENPE	ORPHA:808
HP:0000001	All	5932	RBBP8	ORPHA:808
HP:0000001	All	5932	RBBP8	OMIM:251255
HP:0000001	All	84126	ATRIP	ORPHA:808
HP:0000001	All	10293	TRAIP	ORPHA:808
HP:0000001	All	10413	YAP1	ORPHA:1473
HP:0000001	All	10413	YAP1	OMIM:120433
HP:0000001	All	7200	TRH	OMIM:275120
HP:0000001	All	23040	MYT1L	OMIM:616521
HP:0000001	All	9076	CLDN1	OMIM:607626
HP:0000001	All	83452	RAB33B	OMIM:615222
HP:0000001	All	109	ADCY3	OMIM:617885
HP:0000001	All	2746	GLUD1	OMIM:606762
HP:0000001	All	51111	KMT5B	OMIM:617788
HP:0000001	All	129685	TAF8	OMIM:619972
HP:0000001	All	10584	COLEC10	OMIM:248340
HP:0000001	All	10584	COLEC10	ORPHA:293843
HP:0000001	All	55109	AGGF1	ORPHA:90308
HP:0000001	All	3612	IMPA1	OMIM:617323
HP:0000001	All	153201	SLC36A2	OMIM:242600
HP:0000001	All	79048	SECISBP2	ORPHA:171706
HP:0000001	All	164656	TMPRSS6	ORPHA:209981
HP:0000001	All	9820	CUL7	OMIM:273750
HP:0000001	All	81620	CDT1	OMIM:613804
HP:0000001	All	81620	CDT1	ORPHA:2554
HP:0000001	All	57020	VPS35L	OMIM:619135
HP:0000001	All	11117	EMILIN1	OMIM:620080
HP:0000001	All	79791	FBXO31	OMIM:615979
HP:0000001	All	10841	FTCD	OMIM:229100
HP:0000001	All	3034	HAL	OMIM:235800
HP:0000001	All	10082	GPC6	ORPHA:93329
HP:0000001	All	23498	HAAO	OMIM:617660
HP:0000001	All	24137	KIF4A	OMIM:300923
HP:0000001	All	64412	GZF1	OMIM:617662
HP:0000001	All	3149	HMGB3	OMIM:300915
HP:0000001	All	8473	OGT	OMIM:300997
HP:0000001	All	3892	KRT86	ORPHA:573
HP:0000001	All	3889	KRT83	ORPHA:573
HP:0000001	All	3887	KRT81	ORPHA:573
HP:0000001	All	27341	RRP7A	OMIM:619453
HP:0000001	All	389856	USP27X	OMIM:300984
HP:0000001	All	55651	NHP2	OMIM:224230
HP:0000001	All	55651	NHP2	OMIM:613987
HP:0000001	All	55505	NOP10	OMIM:224230
HP:0000001	All	10491	CRTAP	OMIM:610682
HP:0000001	All	3953	LEPR	OMIM:614963
HP:0000001	All	79228	THOC6	OMIM:613680
HP:0000001	All	5000	ORC4	ORPHA:2554
HP:0000001	All	990	CDC6	ORPHA:2554
HP:0000001	All	84061	MAGT1	OMIM:301031
HP:0000001	All	84172	POLR1B	OMIM:618939
HP:0000001	All	114928	GPRASP2	OMIM:301018
HP:0000001	All	7991	TUSC3	OMIM:611093
HP:0000001	All	8912	CACNA1H	ORPHA:64280
HP:0000001	All	9524	TECR	OMIM:614020
HP:0000001	All	23761	PISD	OMIM:618889
HP:0000001	All	514	ATP5F1E	OMIM:614053
HP:0000001	All	1789	DNMT3B	OMIM:242860
HP:0000001	All	1789	DNMT3B	ORPHA:2268
HP:0000001	All	145258	GSC	OMIM:602471
HP:0000001	All	53335	BCL11A	OMIM:617101
HP:0000001	All	79882	ZC3H14	OMIM:617125
HP:0000001	All	23154	NCDN	OMIM:619373
HP:0000001	All	23118	TAB2	ORPHA:228410
HP:0000001	All	7102	TSPAN7	OMIM:300210
HP:0000001	All	197257	LDHD	OMIM:245450
HP:0000001	All	78989	COLEC11	OMIM:265050
HP:0000001	All	78989	COLEC11	ORPHA:293843
HP:0000001	All	8671	SLC4A4	OMIM:604278
HP:0000001	All	338917	VSX2	OMIM:610093
HP:0000001	All	6505	SLC1A1	OMIM:222730
HP:0000001	All	151	ADRA2B	ORPHA:86814
HP:0000001	All	10299	MARCHF6	ORPHA:86814
HP:0000001	All	6900	CNTN2	ORPHA:86814
HP:0000001	All	7360	UGP2	OMIM:618744
HP:0000001	All	55209	SETD5	ORPHA:404440
HP:0000001	All	2348	FOLR1	OMIM:613068
HP:0000001	All	5476	CTSA	ORPHA:351
HP:0000001	All	5476	CTSA	OMIM:256540
HP:0000001	All	9636	ISG15	OMIM:616126
HP:0000001	All	57609	DIP2B	OMIM:136630
HP:0000001	All	120	ADD3	OMIM:617008
HP:0000001	All	5426	POLE	OMIM:618336
HP:0000001	All	6448	SGSH	OMIM:252900
HP:0000001	All	1950	EGF	OMIM:611718
HP:0000001	All	6096	RORB	OMIM:618357
HP:0000001	All	346171	ZFP57	ORPHA:99886
HP:0000001	All	57061	HYMAI	ORPHA:99886
HP:0000001	All	5325	PLAGL1	ORPHA:99886
HP:0000001	All	79709	COLGALT1	OMIM:618360
HP:0000001	All	486	FXYD2	OMIM:154020
HP:0000001	All	24140	FTSJ1	OMIM:309549
HP:0000001	All	3054	HCFC1	OMIM:309541
HP:0000001	All	8883	NAE1	OMIM:620210
HP:0000001	All	57477	SHROOM4	ORPHA:85288
HP:0000001	All	23112	TNRC6B	OMIM:619243
HP:0000001	All	2658	GDF2	ORPHA:774
HP:0000001	All	81615	TMEM163	OMIM:620243
HP:0000001	All	1893	ECM1	OMIM:247100
HP:0000001	All	1893	ECM1	ORPHA:530
HP:0000001	All	26960	NBEA	OMIM:619157
HP:0000001	All	224	ALDH3A2	ORPHA:816
HP:0000001	All	224	ALDH3A2	OMIM:270200
HP:0000001	All	429	ASCL1	ORPHA:99803
HP:0000001	All	8929	PHOX2B	ORPHA:99803
HP:0000001	All	8929	PHOX2B	ORPHA:661
HP:0000001	All	8929	PHOX2B	ORPHA:2151
HP:0000001	All	4718	NDUFC2	OMIM:619170
HP:0000001	All	55858	TMEM165	OMIM:614727
HP:0000001	All	54675	CRLS1	OMIM:620167
HP:0000001	All	9184	BUB3	ORPHA:1052
HP:0000001	All	9319	TRIP13	ORPHA:1052
HP:0000001	All	9319	TRIP13	OMIM:617598
HP:0000001	All	55148	UBR7	OMIM:619189
HP:0000001	All	6091	ROBO1	ORPHA:95496
HP:0000001	All	23432	GPR161	ORPHA:95496
HP:0000001	All	79759	ZNF668	OMIM:620194
HP:0000001	All	283209	PGM2L1	OMIM:620191
HP:0000001	All	1013	CDH15	OMIM:612580
HP:0000001	All	11235	PDCD10	OMIM:603285
HP:0000001	All	11235	PDCD10	ORPHA:221061
HP:0000001	All	3661	IRF3	OMIM:616532
HP:0000001	All	10577	NPC2	OMIM:607625
HP:0000001	All	2806	GOT2	OMIM:618721
HP:0000001	All	57647	DHX37	OMIM:618731
HP:0000001	All	2212	FCGR2A	OMIM:152700
HP:0000001	All	2213	FCGR2B	OMIM:152700
HP:0000001	All	1773	DNASE1	OMIM:152700
HP:0000001	All	2811	GP1BA	ORPHA:274
HP:0000001	All	2815	GP9	ORPHA:274
HP:0000001	All	343450	KCNT2	OMIM:617771
HP:0000001	All	6855	SYP	OMIM:300802
HP:0000001	All	55689	YEATS2	OMIM:615127
HP:0000001	All	55870	ASH1L	OMIM:617796
HP:0000001	All	9213	XPR1	ORPHA:1980
HP:0000001	All	9213	XPR1	OMIM:616413
HP:0000001	All	22884	WDR37	OMIM:618652
HP:0000001	All	7862	BRPF1	OMIM:617333
HP:0000001	All	131405	TRIM71	OMIM:618667
HP:0000001	All	8676	STX11	OMIM:603552
HP:0000001	All	8676	STX11	ORPHA:540
HP:0000001	All	554	AVPR2	ORPHA:223
HP:0000001	All	554	AVPR2	OMIM:304800
HP:0000001	All	359	AQP2	ORPHA:223
HP:0000001	All	359	AQP2	OMIM:125800
HP:0000001	All	2157	F8	ORPHA:169805
HP:0000001	All	55217	TMLHE	OMIM:300872
HP:0000001	All	627	BDNF	ORPHA:661
HP:0000001	All	650	BMP2	ORPHA:261295
HP:0000001	All	162514	TRPV3	ORPHA:659
HP:0000001	All	1491	CTH	ORPHA:212
HP:0000001	All	6898	TAT	ORPHA:28378
HP:0000001	All	57003	CCDC47	OMIM:618268
HP:0000001	All	7504	XK	OMIM:300842
HP:0000001	All	8911	CACNA1I	OMIM:620114
HP:0000001	All	3593	IL12B	ORPHA:3287
HP:0000001	All	6945	MLX	ORPHA:3287
HP:0000001	All	8665	EIF3F	OMIM:618295
HP:0000001	All	375	ARF1	OMIM:618185
HP:0000001	All	83700	JAM3	OMIM:613730
HP:0000001	All	118987	PDZD8	OMIM:620021
HP:0000001	All	80222	TARS2	OMIM:615918
HP:0000001	All	63908	NAPB	OMIM:620033
HP:0000001	All	10015	PDCD6IP	OMIM:620047
HP:0000001	All	23461	ABCA5	ORPHA:2026
HP:0000001	All	9719	ADAMTSL2	OMIM:231050
HP:0000001	All	22859	ADGRL1	OMIM:620065
HP:0000001	All	5591	PRKDC	OMIM:615966
HP:0000001	All	6253	RTN2	ORPHA:100993
HP:0000001	All	54413	NLGN3	OMIM:300425
HP:0000001	All	471	ATIC	ORPHA:250977
HP:0000001	All	471	ATIC	OMIM:608688
HP:0000001	All	5498	PPOX	ORPHA:79473
HP:0000001	All	81562	LMAN2L	OMIM:616887
HP:0000001	All	51124	IER3IP1	OMIM:614231
HP:0000001	All	5495	PPM1B	ORPHA:163693
HP:0000001	All	6519	SLC3A1	ORPHA:163693
HP:0000001	All	79823	CAMKMT	ORPHA:163693
HP:0000001	All	10369	CACNG2	OMIM:614256
HP:0000001	All	91801	ALKBH8	OMIM:618504
HP:0000001	All	4571	MT-TP	OMIM:545000
HP:0000001	All	4565	MT-TI	OMIM:545000
HP:0000001	All	23327	NEDD4L	OMIM:617201
HP:0000001	All	3590	IL11RA	OMIM:614188
HP:0000001	All	56098	PCDHGC4	OMIM:619880
HP:0000001	All	27068	PPA2	OMIM:617222
HP:0000001	All	3773	KCNJ16	OMIM:619406
HP:0000001	All	1758	DMP1	ORPHA:289176
HP:0000001	All	55656	INTS8	OMIM:618572
HP:0000001	All	4212	MEIS2	ORPHA:261190
HP:0000001	All	160418	TMTC3	OMIM:617255
HP:0000001	All	201294	UNC13D	ORPHA:540
HP:0000001	All	6813	STXBP2	ORPHA:540
HP:0000001	All	3376	IARS1	ORPHA:541423
HP:0000001	All	3376	IARS1	OMIM:617093
HP:0000001	All	80311	KLHL15	OMIM:300982
HP:0000001	All	6045	RNF2	OMIM:619460
HP:0000001	All	9758	FRMPD4	OMIM:300983
HP:0000001	All	2222	FDFT1	OMIM:618156
HP:0000001	All	3090	HIC1	ORPHA:531
HP:0000001	All	7531	YWHAE	ORPHA:531
HP:0000001	All	63899	NSUN3	OMIM:619012
HP:0000001	All	84081	NSRP1	OMIM:620001
HP:0000001	All	55294	FBXW7	OMIM:620012
HP:0000001	All	23241	PACS2	OMIM:618067
HP:0000001	All	9693	RAPGEF2	OMIM:618075
HP:0000001	All	63916	ELMO2	ORPHA:3019
HP:0000001	All	5624	PROC	OMIM:612304
HP:0000001	All	3418	IDH2	OMIM:613657
HP:0000001	All	10436	EMG1	ORPHA:1270
HP:0000001	All	5627	PROS1	OMIM:614514
HP:0000001	All	57393	CLTRN	ORPHA:2116
HP:0000001	All	440193	CCDC88C	OMIM:236600
HP:0000001	All	80331	DNAJC5	OMIM:162350
HP:0000001	All	57674	RNF213	ORPHA:2573
HP:0000001	All	889	KRIT1	ORPHA:221061
HP:0000001	All	889	KRIT1	OMIM:116860
HP:0000001	All	3796	KIF2A	OMIM:615411
HP:0000001	All	100506658	OCLN	ORPHA:1229
HP:0000001	All	100506658	OCLN	OMIM:251290
HP:0000001	All	63932	STEEP1	OMIM:301013
HP:0000001	All	6182	MRPL12	OMIM:618951
HP:0000001	All	8192	CLPP	OMIM:614129
HP:0000001	All	11141	IL1RAPL1	OMIM:300143
HP:0000001	All	55367	PIDD1	OMIM:619827
HP:0000001	All	84148	KAT8	OMIM:618974
HP:0000001	All	79776	ZFHX4	ORPHA:91411
HP:0000001	All	3158	HMGCS2	ORPHA:35701
HP:0000001	All	249	ALPL	OMIM:241500
HP:0000001	All	249	ALPL	OMIM:241510
HP:0000001	All	375387	NRROS	OMIM:618875
HP:0000001	All	8364	H4C3	OMIM:619758
HP:0000001	All	51117	COQ4	OMIM:616276
HP:0000001	All	5898	RALA	OMIM:619311
HP:0000001	All	1725	DHPS	OMIM:618480
HP:0000001	All	2560	GABRB1	OMIM:617153
HP:0000001	All	2530	FUT8	OMIM:618005
HP:0000001	All	3198	HOXA1	OMIM:601536
HP:0000001	All	10295	BCKDK	OMIM:614923
HP:0000001	All	55074	OXR1	OMIM:213000
HP:0000001	All	9095	TBX19	OMIM:201400
HP:0000001	All	51574	LARP7	ORPHA:319671
HP:0000001	All	10695	CNPY3	OMIM:617929
HP:0000001	All	1643	DDB2	ORPHA:910
HP:0000001	All	56270	WDR45B	OMIM:617977
HP:0000001	All	51294	PCDH12	OMIM:251280
HP:0000001	All	9130	FAM50A	OMIM:300261
HP:0000001	All	8738	CRADD	OMIM:614499
HP:0000001	All	10111	RAD50	OMIM:613078
HP:0000001	All	4549	MT-RNR1	ORPHA:551
HP:0000001	All	144165	PRICKLE1	ORPHA:308
HP:0000001	All	144165	PRICKLE1	OMIM:612437
HP:0000001	All	785	CACNB4	OMIM:613855
HP:0000001	All	785	CACNB4	ORPHA:211067
HP:0000001	All	823	CAPN1	OMIM:616907
HP:0000001	All	823	CAPN1	ORPHA:488594
HP:0000001	All	51308	REEP2	OMIM:615625
HP:0000001	All	2821	GPI	OMIM:613470
HP:0000001	All	131669	UROC1	OMIM:276880
HP:0000001	All	131669	UROC1	ORPHA:210128
HP:0000001	All	56910	STARD7	OMIM:607876
HP:0000001	All	9699	RIMS2	OMIM:618970
HP:0000001	All	27089	UQCRQ	OMIM:615159
HP:0000001	All	9474	ATG5	OMIM:617584
HP:0000001	All	1356	CP	ORPHA:48818
HP:0000001	All	1356	CP	OMIM:604290
HP:0000001	All	8996	NOL3	OMIM:614937
HP:0000001	All	2299	FOXI1	ORPHA:705
HP:0000001	All	6301	SARS1	OMIM:617709
HP:0000001	All	79955	PDZD7	ORPHA:231178
HP:0000001	All	25861	WHRN	ORPHA:231178
HP:0000001	All	124590	USH1G	ORPHA:231169
HP:0000001	All	83715	ESPN	ORPHA:231169
HP:0000001	All	55753	OGDHL	OMIM:619701
HP:0000001	All	5593	PRKG2	OMIM:619638
HP:0000001	All	5593	PRKG2	OMIM:619636
HP:0000001	All	9354	UBE4A	OMIM:619639
HP:0000001	All	5605	MAP2K2	OMIM:615280
HP:0000001	All	5605	MAP2K2	ORPHA:1340
HP:0000001	All	2671	GFER	ORPHA:330054
HP:0000001	All	5515	PPP2CA	OMIM:618354
HP:0000001	All	64856	VWA1	OMIM:619216
HP:0000001	All	27107	ZBTB11	OMIM:618383
HP:0000001	All	5264	PHYH	ORPHA:773
HP:0000001	All	2801	GOLGA2	OMIM:620240
HP:0000001	All	3675	ITGA3	OMIM:614748
HP:0000001	All	27034	ACAD8	OMIM:611283
HP:0000001	All	27034	ACAD8	ORPHA:79159
HP:0000001	All	388753	COA6	OMIM:616501
HP:0000001	All	6678	SPARC	OMIM:616507
HP:0000001	All	55180	LINS1	OMIM:614340
HP:0000001	All	8294	H4C9	OMIM:619951
HP:0000001	All	1501	CTNND2	ORPHA:281
HP:0000001	All	9037	SEMA5A	ORPHA:281
HP:0000001	All	497661	C18orf32	OMIM:619985
HP:0000001	All	23189	KANK1	OMIM:612900
HP:0000001	All	55628	ZNF407	OMIM:619557
HP:0000001	All	22796	COG2	OMIM:617395
HP:0000001	All	5250	SLC25A3	OMIM:610773
HP:0000001	All	5250	SLC25A3	ORPHA:91130
HP:0000001	All	2683	B4GALT1	OMIM:607091
HP:0000001	All	55526	DHTKD1	OMIM:204750
HP:0000001	All	54938	SARS2	OMIM:613845
HP:0000001	All	79717	PPCS	OMIM:618189
HP:0000001	All	9871	SEC24D	ORPHA:2050
HP:0000001	All	9871	SEC24D	OMIM:616294
HP:0000001	All	5034	P4HB	ORPHA:2050
HP:0000001	All	55325	UFSP2	OMIM:620028
HP:0000001	All	112755	STX1B	ORPHA:36387
HP:0000001	All	84059	ADGRV1	ORPHA:36387
HP:0000001	All	1642	DDB1	OMIM:619426
HP:0000001	All	3039	HBA1	ORPHA:98791
HP:0000001	All	3040	HBA2	ORPHA:98791
HP:0000001	All	80267	EDEM3	OMIM:619493
HP:0000001	All	23325	WASHC4	OMIM:615817
HP:0000001	All	4329	ALDH6A1	OMIM:614105
HP:0000001	All	3425	IDUA	ORPHA:93473
HP:0000001	All	60528	ELAC2	OMIM:615440
HP:0000001	All	4056	LTC4S	OMIM:614037
HP:0000001	All	27102	EIF2AK1	OMIM:618878
HP:0000001	All	142680	SLC34A3	OMIM:241530
HP:0000001	All	8363	H4C11	OMIM:619759
HP:0000001	All	4509	MT-ATP8	ORPHA:480
HP:0000001	All	51013	EXOSC1	OMIM:619304
HP:0000001	All	8869	ST3GAL5	OMIM:609056
HP:0000001	All	9969	MED13	OMIM:618009
HP:0000001	All	1984	EIF5A	OMIM:619376
HP:0000001	All	5859	QARS1	OMIM:615760
HP:0000001	All	5172	SLC26A4	ORPHA:95720
HP:0000001	All	5172	SLC26A4	ORPHA:95713
HP:0000001	All	2304	FOXE1	ORPHA:95713
HP:0000001	All	2108	ETFA	OMIM:231680
HP:0000001	All	2109	ETFB	OMIM:231680
HP:0000001	All	2110	ETFDH	OMIM:231680
HP:0000001	All	229	ALDOB	OMIM:229600
HP:0000001	All	229	ALDOB	ORPHA:469
HP:0000001	All	148738	HJV	OMIM:602390
HP:0000001	All	148738	HJV	ORPHA:79230
HP:0000001	All	79783	SUGCT	ORPHA:35706
HP:0000001	All	7849	PAX8	OMIM:218700
HP:0000001	All	5095	PCCA	OMIM:606054
HP:0000001	All	5096	PCCB	OMIM:606054
HP:0000001	All	9377	COX5A	OMIM:619064
HP:0000001	All	55065	SLC52A1	OMIM:615026
HP:0000001	All	1591	CYP24A1	OMIM:143880
HP:0000001	All	50506	DUOX2	ORPHA:226316
HP:0000001	All	50506	DUOX2	ORPHA:95716
HP:0000001	All	84833	ATP5MK	OMIM:618683
HP:0000001	All	654	BMP6	ORPHA:465508
HP:0000001	All	7201	TRHR	ORPHA:99832
HP:0000001	All	7201	TRHR	OMIM:618573
HP:0000001	All	6528	SLC5A5	OMIM:274400
HP:0000001	All	6528	SLC5A5	ORPHA:95716
HP:0000001	All	6948	TCN2	OMIM:275350
HP:0000001	All	3875	KRT18	OMIM:215600
HP:0000001	All	2710	GK	OMIM:307030
HP:0000001	All	7019	TFAM	OMIM:617156
HP:0000001	All	405753	DUOXA2	ORPHA:95716
HP:0000001	All	7038	TG	ORPHA:95716
HP:0000001	All	7173	TPO	ORPHA:95716
HP:0000001	All	389434	IYD	ORPHA:95716
HP:0000001	All	3712	IVD	OMIM:243500
HP:0000001	All	3172	HNF4A	ORPHA:263455
HP:0000001	All	57817	HAMP	ORPHA:79230
HP:0000001	All	435	ASL	OMIM:207900
HP:0000001	All	2998	GYS2	ORPHA:2089
HP:0000001	All	2203	FBP1	OMIM:229700
HP:0000001	All	551	AVP	ORPHA:30925
HP:0000001	All	1807	DPYS	OMIM:222748
HP:0000001	All	9054	NFS1	OMIM:619386
HP:0000001	All	51256	TBC1D7	OMIM:248000
HP:0000001	All	4522	MTHFD1	OMIM:617780
HP:0000001	All	8309	ACOX2	OMIM:617308
HP:0000001	All	57156	TMEM63C	OMIM:619966
HP:0000001	All	7086	TKT	ORPHA:488618
HP:0000001	All	90	ACVR1	OMIM:135100
HP:0000001	All	178	AGL	ORPHA:366
HP:0000001	All	2742	GLRA2	OMIM:301076
HP:0000001	All	3242	HPD	OMIM:276710
HP:0000001	All	3242	HPD	OMIM:140350
HP:0000001	All	4568	MT-TL2	ORPHA:663
HP:0000001	All	537	ATP6AP1	OMIM:300972
HP:0000001	All	4998	ORC1	OMIM:224690
HP:0000001	All	2664	GDI1	OMIM:300849
HP:0000001	All	10013	HDAC6	OMIM:300863
HP:0000001	All	10013	HDAC6	ORPHA:163966
HP:0000001	All	4613	MYCN	OMIM:164280
HP:0000001	All	55213	RCBTB1	OMIM:617175
HP:0000001	All	84905	ZNF341	OMIM:618282
HP:0000001	All	4256	MGP	OMIM:245150
HP:0000001	All	4256	MGP	ORPHA:85202
HP:0000001	All	375056	MIA3	OMIM:619269
HP:0000001	All	6853	SYN1	OMIM:300115
HP:0000001	All	84282	RNF135	ORPHA:137634
HP:0000001	All	55780	ERMARD	ORPHA:75857
HP:0000001	All	124512	METTL23	OMIM:615942
HP:0000001	All	254065	BRWD3	OMIM:300659
HP:0000001	All	92154	MTSS2	OMIM:620086
HP:0000001	All	5648	MASP1	OMIM:257920
HP:0000001	All	84816	RTN4IP1	OMIM:616732
HP:0000001	All	169792	GLIS3	OMIM:610199
HP:0000001	All	2122	MECOM	OMIM:616738
HP:0000001	All	20	ABCA2	OMIM:618808
HP:0000001	All	51185	CRBN	OMIM:607417
HP:0000001	All	57599	WDR48	ORPHA:401800
HP:0000001	All	4780	NFE2L2	OMIM:617744
HP:0000001	All	119559	SFXN4	OMIM:615578
HP:0000001	All	51663	ZFR	ORPHA:401840
HP:0000001	All	23309	SIN3B	ORPHA:500166
HP:0000001	All	23001	WDFY3	OMIM:617520
HP:0000001	All	23236	PLCB1	OMIM:613722
HP:0000001	All	8148	TAF15	ORPHA:803
HP:0000001	All	5445	PON2	ORPHA:803
HP:0000001	All	55830	GLT8D1	ORPHA:803
HP:0000001	All	755	CFAP410	ORPHA:803
HP:0000001	All	10891	PPARGC1A	ORPHA:803
HP:0000001	All	5444	PON1	ORPHA:803
HP:0000001	All	5446	PON3	ORPHA:803
HP:0000001	All	2043	EPHA4	ORPHA:803
HP:0000001	All	1610	DAO	ORPHA:803
HP:0000001	All	2066	ERBB4	ORPHA:803
HP:0000001	All	23025	UNC13A	ORPHA:803
HP:0000001	All	5133	PDCD1	OMIM:126200
HP:0000001	All	80821	DDHD1	OMIM:609340
HP:0000001	All	518	ATP5MC3	OMIM:619681
HP:0000001	All	118813	ZFYVE27	OMIM:610244
HP:0000001	All	58472	SQOR	OMIM:619221
HP:0000001	All	10068	IL18BP	OMIM:618549
HP:0000001	All	5010	CLDN11	OMIM:619328
HP:0000001	All	29978	UBQLN2	OMIM:300857
HP:0000001	All	1814	DRD3	OMIM:190300
HP:0000001	All	5216	PFN1	OMIM:614808
HP:0000001	All	899	CCNF	OMIM:619141
HP:0000001	All	25793	FBXO7	OMIM:260300
HP:0000001	All	23769	FLRT1	ORPHA:320406
HP:0000001	All	3211	HOXB1	OMIM:614744
HP:0000001	All	10133	OPTN	OMIM:613435
HP:0000001	All	5630	PRPH	OMIM:105400
HP:0000001	All	11311	VPS45	OMIM:615285
HP:0000001	All	6888	TALDO1	ORPHA:101028
HP:0000001	All	7372	UMPS	ORPHA:30
HP:0000001	All	7372	UMPS	OMIM:258900
HP:0000001	All	84068	SLC10A7	OMIM:618363
HP:0000001	All	51729	WBP11	OMIM:619227
HP:0000001	All	55181	SMG8	OMIM:619268
HP:0000001	All	415	ARSL	OMIM:302950
HP:0000001	All	415	ARSL	ORPHA:79345
HP:0000001	All	121278	TPH2	OMIM:613003
HP:0000001	All	80152	CENPT	OMIM:618702
HP:0000001	All	10736	SIX2	ORPHA:488437
HP:0000001	All	10565	ARFGEF1	OMIM:619964
HP:0000001	All	3284	HSD3B2	ORPHA:90791
HP:0000001	All	23184	MESD	OMIM:618644
HP:0000001	All	79184	BRCC3	ORPHA:280679
HP:0000001	All	85301	COL27A1	OMIM:615155
HP:0000001	All	213	ALB	OMIM:616000
HP:0000001	All	7385	UQCRC2	OMIM:615160
HP:0000001	All	23405	DICER1	OMIM:618272
HP:0000001	All	28958	COA3	OMIM:619058
HP:0000001	All	23265	EXOC7	OMIM:619072
HP:0000001	All	51244	CCDC174	OMIM:616816
HP:0000001	All	54862	CC2D1A	OMIM:608443
HP:0000001	All	9080	CLDN9	OMIM:619093
HP:0000001	All	9775	EIF4A3	OMIM:268305
HP:0000001	All	51025	PAM16	OMIM:613320
HP:0000001	All	865	CBFB	OMIM:620099
HP:0000001	All	10765	KDM5B	OMIM:618109
HP:0000001	All	23258	DENND5A	OMIM:617281
HP:0000001	All	3988	LIPA	ORPHA:75233
HP:0000001	All	11151	CORO1A	OMIM:615401
HP:0000001	All	8985	PLOD3	OMIM:612394
HP:0000001	All	11222	MRPL3	OMIM:614582
HP:0000001	All	10319	LAMC3	OMIM:614115
HP:0000001	All	6650	CAPN15	OMIM:619318
HP:0000001	All	4081	MAB21L1	OMIM:618479
HP:0000001	All	84701	COX4I2	OMIM:612714
HP:0000001	All	3674	ITGA2B	ORPHA:853
HP:0000001	All	3673	ITGA2	ORPHA:853
HP:0000001	All	135228	CD109	ORPHA:853
HP:0000001	All	3690	ITGB3	ORPHA:853
HP:0000001	All	81555	YIPF5	OMIM:619278
HP:0000001	All	4645	MYO5B	ORPHA:2290
HP:0000001	All	22871	NLGN1	OMIM:618830
HP:0000001	All	1284	COL4A2	OMIM:614483
HP:0000001	All	79650	USB1	ORPHA:1775
HP:0000001	All	55135	WRAP53	ORPHA:1775
HP:0000001	All	4869	NPM1	ORPHA:1775
HP:0000001	All	7298	TYMS	ORPHA:1775
HP:0000001	All	96459	FNIP1	OMIM:619705
HP:0000001	All	7259	TSPYL1	ORPHA:168593
HP:0000001	All	7453	WARS1	OMIM:617721
HP:0000001	All	256472	TMEM151A	OMIM:620245
HP:0000001	All	6515	SLC2A3	ORPHA:399
HP:0000001	All	54982	CLN6	OMIM:204300
HP:0000001	All	1476	CSTB	OMIM:254800
HP:0000001	All	23317	DNAJC13	ORPHA:411602
HP:0000001	All	1981	EIF4G1	ORPHA:411602
HP:0000001	All	55737	VPS35	ORPHA:411602
HP:0000001	All	26058	GIGYF2	ORPHA:411602
HP:0000001	All	10157	AASS	ORPHA:3124
HP:0000001	All	51271	UBAP1	OMIM:618418
HP:0000001	All	9907	AP5Z1	OMIM:613647
HP:0000001	All	84138	SLC7A6OS	OMIM:619191
HP:0000001	All	80067	DCAF17	ORPHA:3464
HP:0000001	All	378884	NHLRC1	ORPHA:501
HP:0000001	All	7957	EPM2A	ORPHA:501
HP:0000001	All	7507	XPA	OMIM:278700
HP:0000001	All	57462	MYORG	OMIM:618317
HP:0000001	All	79641	ROGDI	ORPHA:1946
HP:0000001	All	3075	CFH	OMIM:235400
HP:0000001	All	3078	CFHR1	OMIM:235400
HP:0000001	All	10878	CFHR3	OMIM:235400
HP:0000001	All	29899	GPSM2	OMIM:604213
HP:0000001	All	10054	UBA2	OMIM:619959
HP:0000001	All	4919	ROR1	OMIM:617654
HP:0000001	All	4897	NRCAM	OMIM:619833
HP:0000001	All	7552	ZNF711	OMIM:300803
HP:0000001	All	283489	CHAMP1	OMIM:616579
HP:0000001	All	80155	NAA15	OMIM:617787
HP:0000001	All	1777	DNASE2	OMIM:619858
HP:0000001	All	283987	HID1	OMIM:619983
HP:0000001	All	7386	UQCRFS1	OMIM:618775
HP:0000001	All	26057	ANKRD17	OMIM:619504
HP:0000001	All	3572	IL6ST	OMIM:619751
HP:0000001	All	26038	CHD5	OMIM:619873
HP:0000001	All	57680	CHD8	OMIM:615032
HP:0000001	All	9453	GGPS1	OMIM:619518
HP:0000001	All	9841	ZBTB24	OMIM:614069
HP:0000001	All	51692	CPSF3	OMIM:619876
HP:0000001	All	1615	DARS1	OMIM:615281
HP:0000001	All	51341	ZBTB7A	OMIM:619769
HP:0000001	All	38	ACAT1	ORPHA:134
HP:0000001	All	7143	TNR	OMIM:619653
HP:0000001	All	3978	LIG1	OMIM:619774
HP:0000001	All	54941	RNF125	OMIM:616260
HP:0000001	All	1523	CUX1	OMIM:618330
HP:0000001	All	55151	TMEM38B	OMIM:615066
HP:0000001	All	3479	IGF1	ORPHA:73272
HP:0000001	All	3479	IGF1	OMIM:608747
HP:0000001	All	3912	LAMB1	OMIM:615191
HP:0000001	All	6477	SIAH1	OMIM:619314
HP:0000001	All	7283	TUBG1	ORPHA:261183
HP:0000001	All	81614	NIPA2	ORPHA:261183
HP:0000001	All	55182	RNF220	OMIM:619688
HP:0000001	All	1363	CPE	OMIM:619326
HP:0000001	All	3767	KCNJ11	ORPHA:99885
HP:0000001	All	6774	STAT3	ORPHA:99885
HP:0000001	All	2645	GCK	ORPHA:99885
HP:0000001	All	3630	INS	ORPHA:99885
HP:0000001	All	1741	DLG3	OMIM:300850
HP:0000001	All	51434	ANAPC7	OMIM:619699
HP:0000001	All	4128	MAOA	OMIM:300615
HP:0000001	All	4647	MYO7A	OMIM:276900
HP:0000001	All	10083	USH1C	OMIM:276900
HP:0000001	All	549	AUH	OMIM:250950
HP:0000001	All	9509	ADAMTS2	OMIM:225410
HP:0000001	All	23594	ORC6	OMIM:613803
HP:0000001	All	84065	TMEM222	OMIM:619470
HP:0000001	All	10771	ZMYND11	OMIM:616083
HP:0000001	All	3839	KPNA3	OMIM:620106
HP:0000001	All	8452	CUL3	OMIM:619239
HP:0000001	All	246329	STAC3	ORPHA:168572
HP:0000001	All	246329	STAC3	OMIM:255995
HP:0000001	All	25839	COG4	OMIM:618150
HP:0000001	All	22978	NT5C2	ORPHA:320396
HP:0000001	All	22978	NT5C2	OMIM:613162
HP:0000001	All	8567	MADD	OMIM:619004
HP:0000001	All	8567	MADD	OMIM:619005
HP:0000001	All	4322	MMP13	OMIM:250400
HP:0000001	All	745	MYRF	OMIM:618280
HP:0000001	All	11014	KDELR2	OMIM:619131
HP:0000001	All	5236	PGM1	OMIM:614921
HP:0000001	All	51082	POLR1D	OMIM:613717
HP:0000001	All	10079	ATP9A	OMIM:620242
HP:0000001	All	124093	CCDC78	OMIM:614807
HP:0000001	All	27161	AGO2	OMIM:619149
HP:0000001	All	27183	VPS4A	OMIM:619273
HP:0000001	All	27178	IL37	OMIM:619398
HP:0000001	All	9640	ZNF592	ORPHA:83472
HP:0000001	All	5689	PSMB1	OMIM:620038
HP:0000001	All	7125	TNNC2	OMIM:620161
HP:0000001	All	56984	PSMG2	OMIM:619183
HP:0000001	All	3070	HELLS	OMIM:616911
HP:0000001	All	121512	FGD4	OMIM:609311
HP:0000001	All	11340	EXOSC8	ORPHA:2254
HP:0000001	All	7443	VRK1	ORPHA:2254
HP:0000001	All	7443	VRK1	OMIM:607596
HP:0000001	All	10518	CIB2	OMIM:614869
HP:0000001	All	64837	KLC2	OMIM:609541
HP:0000001	All	5165	PDK3	ORPHA:352675
HP:0000001	All	10430	TMEM147	OMIM:620075
HP:0000001	All	84978	FRMD5	OMIM:620094
HP:0000001	All	51053	GMNN	OMIM:616835
HP:0000001	All	579	NKX3-2	OMIM:613330
HP:0000001	All	11133	KPTN	OMIM:615637
HP:0000001	All	3176	HNMT	OMIM:616739
HP:0000001	All	55603	TENT5A	OMIM:617952
HP:0000001	All	54974	THG1L	OMIM:618800
HP:0000001	All	84693	MCEE	OMIM:251120
HP:0000001	All	23395	LARS2	OMIM:615300
HP:0000001	All	11280	SCN11A	OMIM:615548
HP:0000001	All	65217	PCDH15	OMIM:602083
HP:0000001	All	2584	GALK1	ORPHA:79237
HP:0000001	All	2588	GALNS	OMIM:253000
HP:0000001	All	6697	SPR	ORPHA:70594
HP:0000001	All	23209	MLC1	OMIM:604004
HP:0000001	All	2890	GRIA1	OMIM:619927
HP:0000001	All	374462	PTPRQ	OMIM:613391
HP:0000001	All	9320	TRIP12	OMIM:617752
HP:0000001	All	5718	PSMD12	OMIM:617516
HP:0000001	All	166929	SGMS2	OMIM:126550
HP:0000001	All	51733	UPB1	OMIM:613161
HP:0000001	All	9181	ARHGEF2	OMIM:617523
HP:0000001	All	7252	TSHB	OMIM:275100
HP:0000001	All	7384	UQCRC1	OMIM:619279
HP:0000001	All	5702	PSMC3	OMIM:619354
HP:0000001	All	2517	FUCA1	OMIM:230000
HP:0000001	All	22934	RPIA	OMIM:608611
HP:0000001	All	2729	GCLC	OMIM:230450
HP:0000001	All	23204	ARL6IP1	ORPHA:401780
HP:0000001	All	210	ALAD	ORPHA:100924
HP:0000001	All	3117	HLA-DQA1	OMIM:212750
HP:0000001	All	10801	SEPTIN9	ORPHA:2901
HP:0000001	All	51399	TRAPPC4	OMIM:618741
HP:0000001	All	23446	SLC44A1	OMIM:618868
HP:0000001	All	10159	ATP6AP2	ORPHA:93952
HP:0000001	All	10159	ATP6AP2	OMIM:300423
HP:0000001	All	10501	SEMA6B	OMIM:618876
HP:0000001	All	146057	TTBK2	OMIM:604432
HP:0000001	All	219285	SAMD9L	OMIM:159550
HP:0000001	All	219285	SAMD9L	ORPHA:2585
HP:0000001	All	219285	SAMD9L	OMIM:619806
HP:0000001	All	535	ATP6V0A1	OMIM:619971
HP:0000001	All	7343	UBTF	OMIM:617672
HP:0000001	All	8560	DEGS1	OMIM:618404
HP:0000001	All	343641	TGM6	ORPHA:276193
HP:0000001	All	343641	TGM6	OMIM:613908
HP:0000001	All	10715	CERS1	OMIM:616230
HP:0000001	All	2744	GLS	OMIM:618412
HP:0000001	All	51761	ATP8A2	OMIM:615268
HP:0000001	All	54840	APTX	OMIM:208920
HP:0000001	All	950	SCARB2	OMIM:254900
HP:0000001	All	55621	TRMT1	OMIM:618302
HP:0000001	All	54902	TTC19	OMIM:615157
HP:0000001	All	285362	SUMF1	OMIM:272200
HP:0000001	All	10531	PITRM1	OMIM:619405
HP:0000001	All	256471	MFSD8	OMIM:610951
HP:0000001	All	23162	MAPK8IP3	OMIM:618443
HP:0000001	All	197258	FCSK	OMIM:618324
HP:0000001	All	29960	MRM2	OMIM:618567
HP:0000001	All	2055	CLN8	ORPHA:1947
HP:0000001	All	2055	CLN8	OMIM:600143
HP:0000001	All	2055	CLN8	OMIM:610003
HP:0000001	All	58497	PRUNE1	OMIM:617481
HP:0000001	All	58497	PRUNE1	ORPHA:544469
HP:0000001	All	5111	PCNA	ORPHA:438134
HP:0000001	All	5111	PCNA	OMIM:615919
HP:0000001	All	10466	COG5	ORPHA:263487
HP:0000001	All	10466	COG5	OMIM:613612
HP:0000001	All	51728	POLR3K	OMIM:619310
HP:0000001	All	128869	PIGU	OMIM:618590
HP:0000001	All	6548	SLC9A1	OMIM:616291
HP:0000001	All	23102	TBC1D2B	OMIM:619323
HP:0000001	All	154881	KCTD7	OMIM:611726
HP:0000001	All	154881	KCTD7	ORPHA:263516
HP:0000001	All	79944	L2HGDH	OMIM:236792
HP:0000001	All	5934	RBL2	OMIM:619690
HP:0000001	All	25929	GEMIN5	OMIM:619333
HP:0000001	All	3746	KCNC1	OMIM:616187
HP:0000001	All	1201	CLN3	ORPHA:228346
HP:0000001	All	5611	DNAJC3	OMIM:616192
HP:0000001	All	5611	DNAJC3	ORPHA:445062
HP:0000001	All	23287	AGTPBP1	OMIM:618276
HP:0000001	All	79644	SRD5A3	ORPHA:324737
HP:0000001	All	64858	DCLRE1B	OMIM:620133
HP:0000001	All	9442	MED27	OMIM:619286
HP:0000001	All	54476	RNF216	OMIM:212840
HP:0000001	All	4884	NPTX1	OMIM:620158
HP:0000001	All	5173	PDYN	OMIM:610245
HP:0000001	All	80856	LNPK	OMIM:618090
HP:0000001	All	26090	ABHD12	OMIM:612674
HP:0000001	All	3475	IFRD1	ORPHA:98771
HP:0000001	All	83475	DOHH	OMIM:620066
HP:0000001	All	255928	SYT14	ORPHA:284271
HP:0000001	All	255928	SYT14	OMIM:614229
HP:0000001	All	1384	CRAT	OMIM:617917
HP:0000001	All	200403	VWA3B	OMIM:616948
HP:0000001	All	339453	TMEM240	OMIM:607454
HP:0000001	All	124997	WDR81	OMIM:610185
HP:0000001	All	57505	AARS2	OMIM:615889
HP:0000001	All	50	ACO2	OMIM:614559
HP:0000001	All	2891	GRIA2	OMIM:618917
HP:0000001	All	122553	TRAPPC6B	OMIM:617862
HP:0000001	All	7222	TRPC3	OMIM:616410
HP:0000001	All	6785	ELOVL4	OMIM:133190
HP:0000001	All	9197	SLC33A1	OMIM:614482
HP:0000001	All	79587	CARS2	OMIM:616672
HP:0000001	All	2196	FAT2	OMIM:617769
HP:0000001	All	267010	RNU12	ORPHA:512260
HP:0000001	All	3476	IGBP1	OMIM:300472
HP:0000001	All	3476	IGBP1	ORPHA:52055
HP:0000001	All	5361	PLXNA1	OMIM:619955
HP:0000001	All	2018	EMX2	OMIM:269160
HP:0000001	All	6597	SMARCA4	OMIM:614609
HP:0000001	All	6597	SMARCA4	ORPHA:1465
HP:0000001	All	6602	SMARCD1	OMIM:618779
HP:0000001	All	6602	SMARCD1	ORPHA:1465
HP:0000001	All	55623	THUMPD1	OMIM:619989
HP:0000001	All	129563	DIS3L2	OMIM:267000
HP:0000001	All	1349	COX7B	OMIM:309801
HP:0000001	All	1349	COX7B	OMIM:300887
HP:0000001	All	1349	COX7B	ORPHA:2556
HP:0000001	All	3052	HCCS	OMIM:309801
HP:0000001	All	3052	HCCS	ORPHA:2556
HP:0000001	All	4036	LRP2	OMIM:222448
HP:0000001	All	3170	FOXA2	ORPHA:95494
HP:0000001	All	11041	B4GAT1	OMIM:615287
HP:0000001	All	11041	B4GAT1	ORPHA:899
HP:0000001	All	113179	ADAT3	OMIM:615286
HP:0000001	All	113179	ADAT3	ORPHA:363528
HP:0000001	All	57492	ARID1B	ORPHA:251056
HP:0000001	All	57492	ARID1B	ORPHA:1465
HP:0000001	All	2678	GGT1	OMIM:231950
HP:0000001	All	11023	VAX1	OMIM:614402
HP:0000001	All	5881	RAC3	OMIM:618577
HP:0000001	All	164	AP1G1	OMIM:619548
HP:0000001	All	1801	DPH1	ORPHA:459061
HP:0000001	All	51807	TUBA8	ORPHA:250972
HP:0000001	All	340419	RSPO2	ORPHA:3301
HP:0000001	All	3313	HSPA9	OMIM:616854
HP:0000001	All	27185	DISC1	ORPHA:171703
HP:0000001	All	8320	EOMES	ORPHA:171703
HP:0000001	All	55997	CFC1	OMIM:605376
HP:0000001	All	10329	RXYLT1	ORPHA:899
HP:0000001	All	6601	SMARCC2	ORPHA:1465
HP:0000001	All	6664	SOX11	ORPHA:1465
HP:0000001	All	5831	PYCR1	OMIM:612940
HP:0000001	All	1063	CENPF	OMIM:243605
HP:0000001	All	51608	GET4	OMIM:620200
HP:0000001	All	1000	CDH2	OMIM:618929
HP:0000001	All	7161	TP73	OMIM:619466
HP:0000001	All	2009	EML1	OMIM:600348
HP:0000001	All	55640	FLVCR2	OMIM:225790
HP:0000001	All	91875	TTC5	OMIM:619244
HP:0000001	All	118924	FRA10AC1	OMIM:620113
HP:0000001	All	4781	NFIB	OMIM:618286
HP:0000001	All	9276	COPB2	ORPHA:2512
HP:0000001	All	22995	CEP152	ORPHA:2512
HP:0000001	All	55262	TRAPPC14	ORPHA:2512
HP:0000001	All	4176	MCM7	ORPHA:2512
HP:0000001	All	80254	CEP63	ORPHA:2512
HP:0000001	All	23310	NCAPD3	ORPHA:2512
HP:0000001	All	1911	PHC1	ORPHA:2512
HP:0000001	All	6884	TAF13	ORPHA:2512
HP:0000001	All	9662	CEP135	ORPHA:2512
HP:0000001	All	57082	KNL1	ORPHA:2512
HP:0000001	All	1021	CDK6	ORPHA:2512
HP:0000001	All	6658	SOX3	ORPHA:3157
HP:0000001	All	9915	ARNT2	ORPHA:3157
HP:0000001	All	11113	CIT	OMIM:617090
HP:0000001	All	3763	KCNJ6	ORPHA:435628
HP:0000001	All	3763	KCNJ6	OMIM:614098
HP:0000001	All	6535	SLC6A8	OMIM:300352
HP:0000001	All	6535	SLC6A8	ORPHA:52503
HP:0000001	All	5723	PSPH	OMIM:614023
HP:0000001	All	5723	PSPH	ORPHA:79350
HP:0000001	All	1119	CHKA	OMIM:620023
HP:0000001	All	8496	PPFIBP1	OMIM:620024
HP:0000001	All	57176	VARS2	OMIM:615917
HP:0000001	All	166378	AFG2A	OMIM:616577
HP:0000001	All	271	AMPD2	OMIM:615809
HP:0000001	All	271	AMPD2	ORPHA:401805
HP:0000001	All	271	AMPD2	OMIM:615686
HP:0000001	All	284403	WDR62	OMIM:604317
HP:0000001	All	340024	SLC6A19	OMIM:234500
HP:0000001	All	114034	TOE1	OMIM:614969
HP:0000001	All	114034	TOE1	ORPHA:284339
HP:0000001	All	22872	SEC31A	OMIM:618651
HP:0000001	All	23036	ZNF292	OMIM:619188
HP:0000001	All	9152	SLC6A5	OMIM:614618
HP:0000001	All	9152	SLC6A5	ORPHA:3197
HP:0000001	All	2743	GLRB	OMIM:614619
HP:0000001	All	2743	GLRB	ORPHA:3197
HP:0000001	All	1267	CNP	OMIM:619071
HP:0000001	All	55719	SLF2	OMIM:620184
HP:0000001	All	3800	KIF5C	OMIM:615282
HP:0000001	All	4285	MIPEP	OMIM:617228
HP:0000001	All	9440	MED17	OMIM:613668
HP:0000001	All	55164	SHQ1	ORPHA:256
HP:0000001	All	1736	DKC1	ORPHA:3322
HP:0000001	All	9526	MPDU1	ORPHA:79323
HP:0000001	All	9526	MPDU1	OMIM:609180
HP:0000001	All	84894	LINGO1	OMIM:618103
HP:0000001	All	30000	TNPO2	OMIM:619556
HP:0000001	All	3786	KCNQ3	ORPHA:306
HP:0000001	All	2073	ERCC5	ORPHA:1466
HP:0000001	All	23229	ARHGEF9	ORPHA:163985
HP:0000001	All	23229	ARHGEF9	OMIM:300607
HP:0000001	All	2138	EYA1	ORPHA:2792
HP:0000001	All	2741	GLRA1	ORPHA:3197
HP:0000001	All	2741	GLRA1	OMIM:149400
HP:0000001	All	220296	HEPACAM	OMIM:613925
HP:0000001	All	5873	RAB27A	ORPHA:79477
HP:0000001	All	23476	BRD4	ORPHA:199
HP:0000001	All	1718	DHCR24	ORPHA:35107
HP:0000001	All	440138	ALG11	ORPHA:280071
HP:0000001	All	2893	GRIA4	OMIM:617864
HP:0000001	All	3832	KIF11	ORPHA:2526
HP:0000001	All	4190	MDH1	OMIM:618959
HP:0000001	All	3739	KCNA4	OMIM:618284
HP:0000001	All	85378	TUBGCP6	ORPHA:2518
HP:0000001	All	27229	TUBGCP4	ORPHA:2518
HP:0000001	All	10733	PLK4	ORPHA:2518
HP:0000001	All	23529	CLCF1	ORPHA:1545
HP:0000001	All	9562	MINPP1	ORPHA:284339
HP:0000001	All	1496	CTNNA2	OMIM:618174
HP:0000001	All	1534	CYB561	OMIM:618182
HP:0000001	All	1136	CHRNA3	OMIM:191800
HP:0000001	All	8086	AAAS	OMIM:231550
HP:0000001	All	3594	IL12RB1	ORPHA:186
HP:0000001	All	3592	IL12A	ORPHA:186
HP:0000001	All	6689	SPIB	ORPHA:186
HP:0000001	All	5450	POU2AF1	ORPHA:186
HP:0000001	All	9966	TNFSF15	ORPHA:186
HP:0000001	All	79258	MMEL1	ORPHA:186
HP:0000001	All	51142	CHCHD2	OMIM:616710
HP:0000001	All	253017	TECRL	OMIM:614021
HP:0000001	All	253017	TECRL	ORPHA:3286
HP:0000001	All	10021	HCN4	OMIM:163800
HP:0000001	All	10021	HCN4	ORPHA:130
HP:0000001	All	3728	JUP	OMIM:601214
HP:0000001	All	3728	JUP	OMIM:611528
HP:0000001	All	1824	DSC2	OMIM:610476
HP:0000001	All	54795	TRPM4	OMIM:604559
HP:0000001	All	54795	TRPM4	ORPHA:871
HP:0000001	All	54795	TRPM4	ORPHA:130
HP:0000001	All	79572	ATP13A3	OMIM:265400
HP:0000001	All	5318	PKP2	OMIM:609040
HP:0000001	All	5318	PKP2	ORPHA:130
HP:0000001	All	7134	TNNC1	OMIM:613243
HP:0000001	All	6508	SLC4A3	ORPHA:51083
HP:0000001	All	6508	SLC4A3	OMIM:620231
HP:0000001	All	51422	PRKAG2	OMIM:600858
HP:0000001	All	51422	PRKAG2	OMIM:194200
HP:0000001	All	783	CACNB2	OMIM:611876
HP:0000001	All	783	CACNB2	ORPHA:130
HP:0000001	All	6262	RYR2	OMIM:604772
HP:0000001	All	6262	RYR2	ORPHA:3286
HP:0000001	All	845	CASQ2	OMIM:604772
HP:0000001	All	845	CASQ2	ORPHA:3286
HP:0000001	All	845	CASQ2	OMIM:611938
HP:0000001	All	3764	KCNJ8	ORPHA:130
HP:0000001	All	7871	SLMAP	ORPHA:130
HP:0000001	All	29098	RANGRF	ORPHA:130
HP:0000001	All	55800	SCN3B	ORPHA:130
HP:0000001	All	6327	SCN2B	ORPHA:130
HP:0000001	All	23171	GPD1L	ORPHA:130
HP:0000001	All	23171	GPD1L	OMIM:611777
HP:0000001	All	51778	MYOZ2	OMIM:613838
HP:0000001	All	776	CACNA1D	OMIM:614896
HP:0000001	All	144245	ALG10B	OMIM:613688
HP:0000001	All	7351	UCP2	ORPHA:276556
HP:0000001	All	140803	TRPM6	OMIM:602014
HP:0000001	All	6557	SLC12A1	OMIM:601678
HP:0000001	All	3758	KCNJ1	OMIM:241200
HP:0000001	All	5741	PTH	OMIM:146200
HP:0000001	All	10686	CLDN16	OMIM:248250
HP:0000001	All	6559	SLC12A3	OMIM:263800
HP:0000001	All	58528	RRAGD	OMIM:620152
HP:0000001	All	54822	TRPM7	OMIM:105500
HP:0000001	All	23321	TRIM2	OMIM:615490
HP:0000001	All	311	ANXA11	OMIM:619733
HP:0000001	All	57863	CADM3	OMIM:619519
HP:0000001	All	10613	ERLIN1	ORPHA:401785
HP:0000001	All	4311	MME	ORPHA:497764
HP:0000001	All	4311	MME	OMIM:617017
HP:0000001	All	84570	COL25A1	ORPHA:1143
HP:0000001	All	57222	ERGIC1	ORPHA:1143
HP:0000001	All	1337	COX6A1	OMIM:616039
HP:0000001	All	23590	PDSS1	OMIM:614651
HP:0000001	All	112	ADCY6	OMIM:616287
HP:0000001	All	340075	ARSI	ORPHA:401815
HP:0000001	All	283446	MYO1H	OMIM:619482
HP:0000001	All	51099	ABHD5	ORPHA:98907
HP:0000001	All	129285	PPP1R21	OMIM:619383
HP:0000001	All	60558	GUF1	OMIM:617065
HP:0000001	All	2937	GSS	OMIM:266130
HP:0000001	All	64170	CARD9	OMIM:212050
HP:0000001	All	596	BCL2	ORPHA:545
HP:0000001	All	3492	IGH	ORPHA:545
HP:0000001	All	604	BCL6	ORPHA:545
HP:0000001	All	58484	NLRC4	OMIM:616050
HP:0000001	All	3718	JAK3	OMIM:600802
HP:0000001	All	629	CFB	OMIM:615561
HP:0000001	All	732	C8B	OMIM:613789
HP:0000001	All	23495	TNFRSF13B	OMIM:240500
HP:0000001	All	115650	TNFRSF13C	OMIM:240500
HP:0000001	All	1380	CR2	OMIM:240500
HP:0000001	All	29851	ICOS	OMIM:240500
HP:0000001	All	930	CD19	OMIM:240500
HP:0000001	All	731	C8A	OMIM:613790
HP:0000001	All	721	C4B	OMIM:614379
HP:0000001	All	767	CA8	ORPHA:1766
HP:0000001	All	57589	RIC1	OMIM:618761
HP:0000001	All	7471	WNT1	ORPHA:85193
HP:0000001	All	89780	WNT3A	ORPHA:85193
HP:0000001	All	472	ATM	ORPHA:100
HP:0000001	All	9338	TCEAL1	OMIM:301094
HP:0000001	All	26173	INTS1	OMIM:618571
HP:0000001	All	165918	RNF168	ORPHA:420741
HP:0000001	All	10371	SEMA3A	ORPHA:478
HP:0000001	All	23767	FLRT3	ORPHA:478
HP:0000001	All	79625	NDNF	ORPHA:478
HP:0000001	All	389549	FEZF1	ORPHA:478
HP:0000001	All	54756	IL17RD	ORPHA:478
HP:0000001	All	285025	CCDC141	ORPHA:478
HP:0000001	All	23259	DDHD2	ORPHA:320380
HP:0000001	All	80217	CFAP43	OMIM:236690
HP:0000001	All	60681	FKBP10	ORPHA:1149
HP:0000001	All	3720	JARID2	OMIM:620098
HP:0000001	All	4148	MATN3	ORPHA:93311
HP:0000001	All	953	ENTPD1	ORPHA:401810
HP:0000001	All	953	ENTPD1	OMIM:615683
HP:0000001	All	22948	CCT5	ORPHA:139578
HP:0000001	All	7388	UQCRH	OMIM:620137
HP:0000001	All	104	ADARB1	OMIM:618862
HP:0000001	All	50651	SLC45A1	OMIM:617532
HP:0000001	All	51569	UFM1	OMIM:617899
HP:0000001	All	1024	CDK8	OMIM:618748
HP:0000001	All	6659	SOX4	OMIM:618506
HP:0000001	All	6228	RPS23	OMIM:617412
HP:0000001	All	9254	CACNA2D2	OMIM:618501
HP:0000001	All	23417	MLYCD	OMIM:248360
HP:0000001	All	2720	GLB1	OMIM:230600
HP:0000001	All	64220	STRA6	OMIM:601186
HP:0000001	All	116931	MED12L	OMIM:618872
HP:0000001	All	120227	CYP2R1	OMIM:600081
HP:0000001	All	120227	CYP2R1	ORPHA:289157
HP:0000001	All	55687	TRMU	OMIM:613070
HP:0000001	All	55687	TRMU	ORPHA:254864
HP:0000001	All	2590	GALNT2	OMIM:618885
HP:0000001	All	4330	MN1	OMIM:618774
HP:0000001	All	1594	CYP27B1	OMIM:264700
HP:0000001	All	1594	CYP27B1	ORPHA:289157
HP:0000001	All	339983	NAT8L	OMIM:614063
HP:0000001	All	29081	METTL5	OMIM:618665
HP:0000001	All	51604	PIGT	OMIM:615398
HP:0000001	All	55773	TBC1D23	OMIM:617695
HP:0000001	All	8558	CDK10	OMIM:617694
HP:0000001	All	8021	NUP214	OMIM:618426
HP:0000001	All	166785	MMAA	OMIM:251100
HP:0000001	All	8733	GPAA1	ORPHA:529665
HP:0000001	All	7358	UGDH	OMIM:618792
HP:0000001	All	59336	PRDM13	OMIM:619761
HP:0000001	All	200424	TET3	OMIM:618798
HP:0000001	All	9772	TMEM94	OMIM:618316
HP:0000001	All	51567	TDP2	ORPHA:404493
HP:0000001	All	51567	TDP2	OMIM:616949
HP:0000001	All	4351	MPI	OMIM:602579
HP:0000001	All	3835	KIF22	OMIM:603546
HP:0000001	All	9922	IQSEC1	OMIM:618687
HP:0000001	All	57192	MCOLN1	OMIM:252650
HP:0000001	All	1967	EIF2B1	OMIM:603896
HP:0000001	All	5587	PRKD1	OMIM:617364
HP:0000001	All	5081	PAX7	OMIM:618578
HP:0000001	All	10564	ARFGEF2	OMIM:608097
HP:0000001	All	56521	DNAJC12	OMIM:617384
HP:0000001	All	57520	HECW2	OMIM:617268
HP:0000001	All	1654	DDX3X	ORPHA:457260
HP:0000001	All	3192	HNRNPU	OMIM:617391
HP:0000001	All	4125	MAN2B1	OMIM:248500
HP:0000001	All	2019	EN1	OMIM:619218
HP:0000001	All	4864	NPC1	OMIM:257220
HP:0000001	All	6821	SUOX	OMIM:272300
HP:0000001	All	1781	DYNC1I2	OMIM:618492
HP:0000001	All	26276	VPS33B	OMIM:208085
HP:0000001	All	63931	MRPS14	OMIM:618378
HP:0000001	All	54681	P4HTM	OMIM:618493
HP:0000001	All	4126	MANBA	OMIM:248510
HP:0000001	All	4548	MTR	OMIM:250940
HP:0000001	All	139411	PTCHD1	OMIM:300830
HP:0000001	All	348180	CTU2	OMIM:618142
HP:0000001	All	31	ACACA	OMIM:613933
HP:0000001	All	10651	MTX2	OMIM:619127
HP:0000001	All	22983	MAST1	OMIM:618273
HP:0000001	All	79143	MBOAT7	OMIM:617188
HP:0000001	All	5625	PRODH	OMIM:239500
HP:0000001	All	201595	STT3B	ORPHA:370924
HP:0000001	All	1650	DDOST	ORPHA:300536
HP:0000001	All	6748	SSR4	ORPHA:370927
HP:0000001	All	6748	SSR4	OMIM:300934
HP:0000001	All	9895	TECPR2	ORPHA:320385
HP:0000001	All	54187	NANS	OMIM:610442
HP:0000001	All	871	SERPINH1	OMIM:613848
HP:0000001	All	6095	RORA	OMIM:618060
HP:0000001	All	158	ADSL	OMIM:103050
HP:0000001	All	158	ADSL	ORPHA:46
HP:0000001	All	1183	CLCN4	OMIM:300114
HP:0000001	All	10046	MAMLD1	ORPHA:456328
HP:0000001	All	2904	GRIN2B	OMIM:613970
HP:0000001	All	4758	NEU1	OMIM:256550
HP:0000001	All	8443	GNPAT	OMIM:222765
HP:0000001	All	6341	SCO1	OMIM:619048
HP:0000001	All	55788	LMBRD1	OMIM:277380
HP:0000001	All	3141	HLCS	OMIM:253270
HP:0000001	All	3766	KCNJ10	OMIM:612780
HP:0000001	All	9739	SETD1A	OMIM:619056
HP:0000001	All	966	CD59	OMIM:612300
HP:0000001	All	5015	OTX2	OMIM:610125
HP:0000001	All	64087	MCCC2	OMIM:210210
HP:0000001	All	1339	COX6A2	OMIM:619062
HP:0000001	All	56922	MCCC1	OMIM:210200
HP:0000001	All	113235	SLC46A1	OMIM:229050
HP:0000001	All	63894	VIPAS39	OMIM:613404
HP:0000001	All	2615	LRRC32	OMIM:619074
HP:0000001	All	1629	DBT	OMIM:248600
HP:0000001	All	593	BCKDHA	OMIM:248600
HP:0000001	All	594	BCKDHB	OMIM:248600
HP:0000001	All	6660	SOX5	OMIM:616803
HP:0000001	All	10056	FARSB	OMIM:613658
HP:0000001	All	6558	SLC12A2	OMIM:619083
HP:0000001	All	6558	SLC12A2	OMIM:619080
HP:0000001	All	5340	PLG	OMIM:217090
HP:0000001	All	5092	PCBD1	OMIM:264070
HP:0000001	All	9147	NEMF	OMIM:619099
HP:0000001	All	1374	CPT1A	OMIM:255120
HP:0000001	All	147007	TMEM199	OMIM:616829
HP:0000001	All	84317	CCDC115	OMIM:616828
HP:0000001	All	56052	ALG1	OMIM:608540
HP:0000001	All	54704	PDP1	OMIM:608782
HP:0000001	All	2632	GBE1	OMIM:232500
HP:0000001	All	7167	TPI1	OMIM:615512
HP:0000001	All	29926	GMPPA	OMIM:615510
HP:0000001	All	53616	ADAM22	OMIM:617933
HP:0000001	All	10229	COQ7	OMIM:616733
HP:0000001	All	7280	TUBB2A	OMIM:615763
HP:0000001	All	64221	ROBO3	OMIM:607313
HP:0000001	All	2895	GRID2	ORPHA:363432
HP:0000001	All	6709	SPTAN1	OMIM:613477
HP:0000001	All	9378	NRXN1	OMIM:614325
HP:0000001	All	51008	ASCC1	OMIM:616867
HP:0000001	All	1105	CHD1	ORPHA:529965
HP:0000001	All	57511	COG6	OMIM:614576
HP:0000001	All	23065	EMC1	OMIM:616875
HP:0000001	All	7421	VDR	OMIM:277440
HP:0000001	All	128637	TBC1D20	OMIM:615663
HP:0000001	All	175	AGA	OMIM:208400
HP:0000001	All	57531	HACE1	OMIM:616756
HP:0000001	All	4644	MYO5A	ORPHA:79476
HP:0000001	All	326625	MMAB	OMIM:251110
HP:0000001	All	2464	FRA16E	OMIM:136570
HP:0000001	All	23443	SLC35A3	OMIM:615553
HP:0000001	All	51520	LARS1	OMIM:615438
HP:0000001	All	26503	SLC17A5	OMIM:604369
HP:0000001	All	26503	SLC17A5	OMIM:269920
HP:0000001	All	5162	PDHB	OMIM:614111
HP:0000001	All	83737	ITCH	OMIM:613385
HP:0000001	All	28957	MRPS28	OMIM:618958
HP:0000001	All	54802	TRIT1	OMIM:617873
HP:0000001	All	51780	KDM3B	OMIM:618846
HP:0000001	All	5538	PPT1	OMIM:256730
HP:0000001	All	1663	DDX11	OMIM:613398
HP:0000001	All	5455	POU3F3	OMIM:618604
HP:0000001	All	2186	BPTF	OMIM:617755
HP:0000001	All	738	VPS51	OMIM:618606
HP:0000001	All	1585	CYP11B2	ORPHA:556030
HP:0000001	All	4848	CNOT2	OMIM:618608
HP:0000001	All	26229	B3GAT3	OMIM:245600
HP:0000001	All	1468	SLC25A10	OMIM:618972
HP:0000001	All	5087	PBX1	OMIM:617641
HP:0000001	All	115286	SLC25A26	OMIM:616794
HP:0000001	All	6833	ABCC8	OMIM:618857
HP:0000001	All	4858	NOVA2	OMIM:618859
HP:0000001	All	1460	CSNK2B	OMIM:618732
HP:0000001	All	22868	FASTKD2	OMIM:618855
HP:0000001	All	58499	ZNF462	OMIM:618619
HP:0000001	All	5052	PRDX1	OMIM:277400
HP:0000001	All	2582	GALE	OMIM:230350
HP:0000001	All	5396	PRRX1	ORPHA:990
HP:0000001	All	56172	ANKH	ORPHA:1522
HP:0000001	All	1027	CDKN1B	ORPHA:652
HP:0000001	All	1026	CDKN1A	ORPHA:652
HP:0000001	All	1031	CDKN2C	ORPHA:652
HP:0000001	All	10312	TCIRG1	ORPHA:210110
HP:0000001	All	1186	CLCN7	ORPHA:210110
HP:0000001	All	22943	DKK1	ORPHA:268882
HP:0000001	All	8600	TNFSF11	OMIM:259710
HP:0000001	All	55503	TRPV6	OMIM:618188
HP:0000001	All	5009	OTC	OMIM:311250
HP:0000001	All	2997	GYS1	OMIM:611556
HP:0000001	All	7174	TPP2	ORPHA:444463
HP:0000001	All	10560	SLC19A2	ORPHA:49827
HP:0000001	All	10560	SLC19A2	OMIM:249270
HP:0000001	All	11093	ADAMTS13	OMIM:274150
HP:0000001	All	3043	HBB	OMIM:603903
HP:0000001	All	9149	DYRK1B	OMIM:615812
HP:0000001	All	128989	TANGO2	ORPHA:480864
HP:0000001	All	3291	HSD11B2	ORPHA:320
HP:0000001	All	1471	CST3	OMIM:105150
HP:0000001	All	1471	CST3	ORPHA:100008
HP:0000001	All	7092	TLL1	ORPHA:99103
HP:0000001	All	57057	TBX20	ORPHA:99103
HP:0000001	All	4624	MYH6	ORPHA:99103
HP:0000001	All	70	ACTC1	ORPHA:99103
HP:0000001	All	4607	MYBPC3	OMIM:115197
HP:0000001	All	7139	TNNT2	ORPHA:75249
HP:0000001	All	7137	TNNI3	ORPHA:75249
HP:0000001	All	10112	KIF20A	ORPHA:75249
HP:0000001	All	83605	CCM2	OMIM:603284
HP:0000001	All	80206	FHOD3	OMIM:619402
HP:0000001	All	2982	GUCY1A1	ORPHA:401945
HP:0000001	All	595	CCND1	ORPHA:892
HP:0000001	All	2147	F2	OMIM:601367
HP:0000001	All	5583	PRKCH	OMIM:601367
HP:0000001	All	2153	F5	OMIM:601367
HP:0000001	All	241	ALOX5AP	OMIM:601367
HP:0000001	All	445	ASS1	OMIM:215700
HP:0000001	All	5286	PIK3C2A	ORPHA:557003
HP:0000001	All	4860	PNP	ORPHA:760
HP:0000001	All	4615	MYD88	ORPHA:33226
HP:0000001	All	1373	CPS1	OMIM:237300
HP:0000001	All	7535	ZAP70	ORPHA:911
HP:0000001	All	5274	SERPINI1	OMIM:604218
HP:0000001	All	84706	GPT2	OMIM:616281
HP:0000001	All	3155	HMGCL	ORPHA:20
HP:0000001	All	763	CA5A	OMIM:615751
HP:0000001	All	95	ACY1	ORPHA:137754
HP:0000001	All	2731	GLDC	OMIM:605899
HP:0000001	All	275	AMT	OMIM:605899
HP:0000001	All	26275	HIBCH	ORPHA:88639
HP:0000001	All	387787	LIPT2	OMIM:617668
HP:0000001	All	23474	ETHE1	ORPHA:51188
HP:0000001	All	23474	ETHE1	OMIM:602473
HP:0000001	All	2592	GALT	ORPHA:79239
HP:0000001	All	513	ATP5F1D	OMIM:618120
HP:0000001	All	8772	FADD	OMIM:613759
HP:0000001	All	8772	FADD	ORPHA:306550
HP:0000001	All	54968	TMEM70	OMIM:614052
HP:0000001	All	2562	GABRB3	ORPHA:2382
HP:0000001	All	5602	MAPK10	ORPHA:2382
HP:0000001	All	23316	CUX2	ORPHA:2382
HP:0000001	All	25930	PTPN23	OMIM:618890
HP:0000001	All	84947	SERAC1	OMIM:614739
HP:0000001	All	28976	ACAD9	ORPHA:99901
HP:0000001	All	28976	ACAD9	OMIM:611126
HP:0000001	All	788	SLC25A20	ORPHA:159
HP:0000001	All	51241	COX16	OMIM:619355
HP:0000001	All	51660	MPC1	OMIM:614741
HP:0000001	All	3704	ITPA	OMIM:616647
HP:0000001	All	23137	SMC5	OMIM:620185
HP:0000001	All	55739	NAXD	OMIM:618321
HP:0000001	All	1537	CYC1	OMIM:615453
HP:0000001	All	197322	ACSF3	ORPHA:289504
HP:0000001	All	54658	UGT1A1	OMIM:218800
HP:0000001	All	57017	COQ9	OMIM:614654
HP:0000001	All	212	ALAS2	ORPHA:75563
HP:0000001	All	54800	KLHL24	OMIM:620236
HP:0000001	All	5371	PML	ORPHA:520
HP:0000001	All	5914	RARA	ORPHA:520
HP:0000001	All	81608	FIP1L1	ORPHA:520
HP:0000001	All	64859	NABP1	ORPHA:520
HP:0000001	All	6777	STAT5B	ORPHA:520
HP:0000001	All	4926	NUMA1	ORPHA:520
HP:0000001	All	7704	ZBTB16	ORPHA:520
HP:0000001	All	57562	CEP126	ORPHA:65684
HP:0000001	All	7234	TRU-TCA1-1	OMIM:620198
HP:0000001	All	55679	LIMS2	OMIM:616827
HP:0000001	All	9948	WDR1	OMIM:150550
HP:0000001	All	2057	EPOR	OMIM:133100
HP:0000001	All	9103	FCGR2C	ORPHA:3002
HP:0000001	All	6007	RHD	OMIM:619462
HP:0000001	All	55969	RAB5IF	OMIM:616994
HP:0000001	All	9918	NCAPD2	OMIM:617983
HP:0000001	All	587	BCAT2	OMIM:618850
HP:0000001	All	3199	HOXA2	ORPHA:83463
HP:0000001	All	9790	BMS1	ORPHA:1114
HP:0000001	All	29887	SNX10	ORPHA:667
HP:0000001	All	4091	SMAD6	OMIM:617439
HP:0000001	All	30011	SH3KBP1	OMIM:300310
HP:0000001	All	3236	HOXD10	OMIM:192950
HP:0000001	All	1314	COPA	OMIM:616414
HP:0000001	All	79875	THSD4	OMIM:619825
HP:0000001	All	6583	SLC22A4	OMIM:180300
HP:0000001	All	51744	CD244	OMIM:180300
HP:0000001	All	4795	NFKBIL1	OMIM:180300
HP:0000001	All	5352	PLOD2	OMIM:609220
HP:0000001	All	342035	GLDN	OMIM:617194
HP:0000001	All	8815	BANF1	OMIM:614008
HP:0000001	All	716	C1S	OMIM:617174
HP:0000001	All	3081	HGD	ORPHA:56
HP:0000001	All	23363	OBSL1	ORPHA:2616
HP:0000001	All	83987	CCDC8	ORPHA:2616
HP:0000001	All	7067	THRA	OMIM:614450
HP:0000001	All	4626	MYH8	ORPHA:3377
HP:0000001	All	6424	SFRP4	OMIM:265900
HP:0000001	All	144811	LACC1	ORPHA:85414
HP:0000001	All	11200	CHEK2	ORPHA:668
HP:0000001	All	54507	ADAMTSL4	ORPHA:1885
HP:0000001	All	340061	STING1	OMIM:615934
HP:0000001	All	54829	ASPN	OMIM:607850
HP:0000001	All	5176	SERPINF1	OMIM:613982
HP:0000001	All	10484	SEC23A	OMIM:607812
HP:0000001	All	1244	ABCC2	ORPHA:234
HP:0000001	All	590	BCHE	ORPHA:132
HP:0000001	All	7018	TF	OMIM:209300
HP:0000001	All	8742	TNFSF12	ORPHA:1572
HP:0000001	All	931	MS4A1	ORPHA:1572
HP:0000001	All	7036	TFR2	OMIM:604250
HP:0000001	All	7389	UROD	OMIM:176100
HP:0000001	All	644	BLVRA	OMIM:614156
HP:0000001	All	54532	USP53	OMIM:619658
HP:0000001	All	113220	KIF12	OMIM:619662
HP:0000001	All	286053	NSMCE2	OMIM:617253
HP:0000001	All	286053	NSMCE2	ORPHA:436182
HP:0000001	All	30061	SLC40A1	ORPHA:139491
HP:0000001	All	30061	SLC40A1	OMIM:606069
HP:0000001	All	208	AKT2	ORPHA:79085
HP:0000001	All	1581	CYP7A1	ORPHA:209902
HP:0000001	All	5424	POLD1	OMIM:615381
HP:0000001	All	5106	PCK2	OMIM:261650
HP:0000001	All	2819	GPD1	OMIM:614480
HP:0000001	All	51081	MRPS7	OMIM:617872
HP:0000001	All	2235	FECH	OMIM:177000
HP:0000001	All	2165	F13B	ORPHA:331
HP:0000001	All	2162	F13A1	ORPHA:331
HP:0000001	All	9971	NR1H4	OMIM:617049
HP:0000001	All	570	BAAT	OMIM:619232
HP:0000001	All	50615	IL21R	OMIM:615207
HP:0000001	All	6907	TBL1X	OMIM:301033
HP:0000001	All	407	ARR3	OMIM:301010
HP:0000001	All	9075	CLDN2	OMIM:301060
HP:0000001	All	5199	CFP	OMIM:312060
HP:0000001	All	286464	CFAP47	OMIM:301059
HP:0000001	All	3547	IGSF1	OMIM:300888
HP:0000001	All	8471	IRS4	OMIM:301035
HP:0000001	All	286410	ATP11C	OMIM:301015
HP:0000001	All	8823	FGF16	OMIM:309630
HP:0000001	All	265	AMELX	OMIM:301200
HP:0000001	All	1730	DIAPH2	OMIM:300511
HP:0000001	All	2487	FRZB	OMIM:165720
HP:0000001	All	50833	TAS2R16	OMIM:103780
HP:0000001	All	125	ADH1B	OMIM:103780
HP:0000001	All	1577	CYP3A5	OMIM:145500
HP:0000001	All	8490	RGS5	OMIM:145500
HP:0000001	All	5740	PTGIS	OMIM:145500
HP:0000001	All	118	ADD1	OMIM:145500
HP:0000001	All	481	ATP1B1	OMIM:145500
HP:0000001	All	1385	CREB1	OMIM:612160
HP:0000001	All	115908	CTHRC1	OMIM:614266
HP:0000001	All	4481	MSR1	OMIM:614266
HP:0000001	All	11178	LZTS1	OMIM:133239
HP:0000001	All	6049	RNF6	OMIM:133239
HP:0000001	All	6886	TAL1	OMIM:613065
HP:0000001	All	6887	TAL2	OMIM:613065
HP:0000001	All	6757	SSX2	OMIM:300813
HP:0000001	All	2308	FOXO1	OMIM:268220
HP:0000001	All	29071	C1GALT1C1	OMIM:300622
HP:0000001	All	3482	IGF2R	OMIM:114550
HP:0000001	All	8013	NR4A3	OMIM:612237
HP:0000001	All	79058	ASPSCR1	OMIM:606243
HP:0000001	All	90665	TBL1Y	OMIM:400047
HP:0000001	All	3045	HBD	ORPHA:231237
HP:0000001	All	4842	NOS1	ORPHA:930
HP:0000001	All	5774	PTPN3	ORPHA:70567
HP:0000001	All	1357	CPA1	ORPHA:676
HP:0000001	All	5243	ABCB1	OMIM:612244
HP:0000001	All	345611	IRGM	OMIM:612278
HP:0000001	All	135	ADORA2A	ORPHA:363549
HP:0000001	All	348932	SLC6A18	ORPHA:42062
HP:0000001	All	54716	SLC6A20	ORPHA:42062
HP:0000001	All	3122	HLA-DRA	ORPHA:505
HP:0000001	All	5373	PMM2	OMIM:212065
HP:0000001	All	23646	PLD3	OMIM:617770
HP:0000001	All	64207	IRF2BPL	OMIM:618088
HP:0000001	All	8566	PDXK	OMIM:618511
HP:0000001	All	9750	RIPOR2	OMIM:616515
HP:0000001	All	5521	PPP2R2B	ORPHA:98762
HP:0000001	All	3748	KCNC3	OMIM:605259
HP:0000001	All	2911	GRM1	ORPHA:324262
HP:0000001	All	1600	DAB1	ORPHA:363710
HP:0000001	All	3569	IL6	OMIM:108010
HP:0000001	All	94	ACVRL1	OMIM:600376
HP:0000001	All	6599	SMARCC1	OMIM:620241
HP:0000001	All	6647	SOD1	OMIM:618598
HP:0000001	All	203190	LGI3	OMIM:620007
HP:0000001	All	6662	SOX9	OMIM:114290
HP:0000001	All	9573	GDF3	ORPHA:2345
HP:0000001	All	4222	MEOX1	ORPHA:2345
HP:0000001	All	29968	PSAT1	OMIM:616038
HP:0000001	All	55521	TRIM36	OMIM:206500
HP:0000001	All	3735	KARS1	OMIM:619196
HP:0000001	All	5091	PC	OMIM:266150
HP:0000001	All	26235	FBXL4	OMIM:615471
HP:0000001	All	11019	LIAS	OMIM:614462
HP:0000001	All	51501	HIKESHI	OMIM:616881
HP:0000001	All	81689	ISCA1	OMIM:617613
HP:0000001	All	9255	AIMP1	OMIM:260600
HP:0000001	All	64857	PLEKHG2	OMIM:616763
HP:0000001	All	100996717	NOTCH2NLC	OMIM:618866
HP:0000001	All	9533	POLR1C	OMIM:616494
HP:0000001	All	122961	ISCA2	OMIM:616370
HP:0000001	All	7284	TUFM	OMIM:610678
HP:0000001	All	2058	EPRS1	OMIM:617951
HP:0000001	All	7965	AIMP2	OMIM:618006
HP:0000001	All	85021	REPS1	OMIM:617916
HP:0000001	All	3431	SP110	ORPHA:79124
HP:0000001	All	8789	FBP2	OMIM:619864
HP:0000001	All	18	ABAT	OMIM:613163
HP:0000001	All	55331	ACER3	OMIM:617762
HP:0000001	All	80169	CTC1	OMIM:612199
HP:0000001	All	10535	RNASEH2A	OMIM:610333
HP:0000001	All	10535	RNASEH2A	ORPHA:51
HP:0000001	All	84668	HYCC1	OMIM:610532
HP:0000001	All	25939	SAMHD1	OMIM:612952
HP:0000001	All	25939	SAMHD1	ORPHA:51
HP:0000001	All	84153	RNASEH2C	ORPHA:51
HP:0000001	All	79621	RNASEH2B	ORPHA:51
HP:0000001	All	134353	LSM11	ORPHA:51
HP:0000001	All	84705	GTPBP3	ORPHA:444013
HP:0000001	All	10844	TUBGCP2	OMIM:618737
HP:0000001	All	728294	D2HGDH	OMIM:600721
HP:0000001	All	2752	GLUL	OMIM:610015
HP:0000001	All	55770	EXOC2	OMIM:619306
HP:0000001	All	1144	CHRND	OMIM:616321
HP:0000001	All	781	CACNA2D1	OMIM:620149
HP:0000001	All	781	CACNA2D1	ORPHA:442835
HP:0000001	All	3073	HEXA	OMIM:272800
HP:0000001	All	55610	VPS50	OMIM:619685
HP:0000001	All	10659	CELF2	OMIM:619561
HP:0000001	All	10659	CELF2	ORPHA:442835
HP:0000001	All	51506	UFC1	OMIM:618076
HP:0000001	All	9342	SNAP29	ORPHA:66631
HP:0000001	All	9342	SNAP29	OMIM:609528
HP:0000001	All	5917	RARS1	ORPHA:438114
HP:0000001	All	5917	RARS1	OMIM:616140
HP:0000001	All	84466	MEGF10	OMIM:614399
HP:0000001	All	51010	EXOSC3	OMIM:614678
HP:0000001	All	55033	FKBP14	OMIM:614557
HP:0000001	All	55033	FKBP14	ORPHA:300179
HP:0000001	All	55250	ELP2	OMIM:617270
HP:0000001	All	9512	PMPCB	OMIM:617954
HP:0000001	All	191	AHCY	OMIM:613752
HP:0000001	All	191	AHCY	ORPHA:88618
HP:0000001	All	819	CAMLG	OMIM:620201
HP:0000001	All	6606	SMN1	OMIM:253300
HP:0000001	All	4633	MYL2	ORPHA:2020
HP:0000001	All	3679	ITGA7	ORPHA:2020
HP:0000001	All	9200	HACD1	ORPHA:2020
HP:0000001	All	388962	BOLA3	OMIM:614299
HP:0000001	All	3737	KCNA2	ORPHA:442835
HP:0000001	All	1759	DNM1	ORPHA:442835
HP:0000001	All	1759	DNM1	OMIM:620352
HP:0000001	All	8120	AP3B2	ORPHA:442835
HP:0000001	All	10991	SLC38A3	ORPHA:442835
HP:0000001	All	51343	FZR1	ORPHA:442835
HP:0000001	All	22906	TRAK1	ORPHA:442835
HP:0000001	All	1917	EEF1A2	ORPHA:442835
HP:0000001	All	2561	GABRB2	ORPHA:442835
HP:0000001	All	7532	YWHAG	ORPHA:442835
HP:0000001	All	79876	UBA5	ORPHA:442835
HP:0000001	All	6328	SCN3A	ORPHA:442835
HP:0000001	All	2906	GRIN2D	ORPHA:442835
HP:0000001	All	116150	NUS1	ORPHA:442835
HP:0000001	All	1213	CLTC	ORPHA:442835
HP:0000001	All	23334	SZT2	ORPHA:442835
HP:0000001	All	51412	ACTL6B	ORPHA:442835
HP:0000001	All	348980	HCN1	ORPHA:442835
HP:0000001	All	6506	SLC1A2	ORPHA:442835
HP:0000001	All	8867	SYNJ1	ORPHA:442835
HP:0000001	All	2258	FGF13	ORPHA:442835
HP:0000001	All	3745	KCNB1	ORPHA:442835
HP:0000001	All	284111	SLC13A5	ORPHA:442835
HP:0000001	All	25977	NECAP1	ORPHA:442835
HP:0000001	All	22866	CNKSR2	ORPHA:442835
HP:0000001	All	9568	GABBR2	ORPHA:442835
HP:0000001	All	9568	GABBR2	OMIM:617904
HP:0000001	All	2555	GABRA2	ORPHA:442835
HP:0000001	All	55152	DALRD3	ORPHA:442835
HP:0000001	All	26999	CYFIP2	ORPHA:442835
HP:0000001	All	4915	NTRK2	ORPHA:442835
HP:0000001	All	25973	PARS2	ORPHA:442835
HP:0000001	All	23097	CDK19	ORPHA:442835
HP:0000001	All	64801	ARV1	ORPHA:442835
HP:0000001	All	5281	PIGF	OMIM:619356
HP:0000001	All	84879	MFSD2A	OMIM:616486
HP:0000001	All	3747	KCNC2	OMIM:619913
HP:0000001	All	116115	ZNF526	OMIM:619877
HP:0000001	All	9091	PIGQ	OMIM:618548
HP:0000001	All	9091	PIGQ	ORPHA:1934
HP:0000001	All	3251	HPRT1	OMIM:300322
HP:0000001	All	253959	RALGAPA1	OMIM:618797
HP:0000001	All	163175	LGI4	OMIM:617468
HP:0000001	All	4649	MYO9A	ORPHA:98914
HP:0000001	All	1103	CHAT	ORPHA:98914
HP:0000001	All	6576	SLC25A1	ORPHA:98914
HP:0000001	All	375790	AGRN	ORPHA:98914
HP:0000001	All	6572	SLC18A3	ORPHA:98914
HP:0000001	All	10681	GNB5	ORPHA:542306
HP:0000001	All	111	ADCY5	OMIM:619651
HP:0000001	All	125988	MICOS13	OMIM:618329
HP:0000001	All	51227	PIGP	OMIM:617599
HP:0000001	All	51227	PIGP	ORPHA:1934
HP:0000001	All	9725	TMEM63A	OMIM:618688
HP:0000001	All	50628	GEMIN4	OMIM:617913
HP:0000001	All	57731	SPTBN4	OMIM:617519
HP:0000001	All	124454	EARS2	OMIM:614924
HP:0000001	All	1719	DHFR	OMIM:613839
HP:0000001	All	6567	SLC16A2	ORPHA:59
HP:0000001	All	64432	MRPS25	OMIM:619025
HP:0000001	All	8884	SLC5A6	OMIM:618973
HP:0000001	All	221692	PHACTR1	OMIM:618298
HP:0000001	All	10243	GPHN	OMIM:615501
HP:0000001	All	1140	CHRNB1	OMIM:616313
HP:0000001	All	3329	HSPD1	OMIM:612233
HP:0000001	All	8449	DHX16	OMIM:618733
HP:0000001	All	7407	VARS1	OMIM:617802
HP:0000001	All	27445	PCLO	OMIM:608027
HP:0000001	All	81603	TRIM8	ORPHA:1934
HP:0000001	All	79751	SLC25A22	ORPHA:1934
HP:0000001	All	150094	SIK1	ORPHA:1934
HP:0000001	All	23312	DMXL2	ORPHA:1934
HP:0000001	All	4353	MPO	OMIM:104300
HP:0000001	All	4846	NOS3	OMIM:104300
HP:0000001	All	3077	HFE	OMIM:104300
HP:0000001	All	5328	PLAU	OMIM:104300
HP:0000001	All	9829	DNAJC6	ORPHA:391411
HP:0000001	All	5420	PODXL	ORPHA:391411
HP:0000001	All	8131	NPRL3	ORPHA:98820
HP:0000001	All	10641	NPRL2	ORPHA:98820
HP:0000001	All	9681	DEPDC5	ORPHA:98820
HP:0000001	All	134701	RIPPLY2	ORPHA:2311
HP:0000001	All	10683	DLL3	ORPHA:2311
HP:0000001	All	3955	LFNG	ORPHA:2311
HP:0000001	All	145873	MESP2	ORPHA:2311
HP:0000001	All	148789	B3GALNT2	ORPHA:588
HP:0000001	All	1540	CYLD	OMIM:619132
HP:0000001	All	6736	SRY	ORPHA:1772
HP:0000001	All	203228	C9orf72	OMIM:105550
HP:0000001	All	64601	VPS16	OMIM:619291
HP:0000001	All	4990	SIX6	OMIM:206900
HP:0000001	All	6657	SOX2	OMIM:206900
HP:0000001	All	4123	MAN2C1	OMIM:619775
HP:0000001	All	7074	TIAM1	OMIM:619908
HP:0000001	All	10134	BCAP31	OMIM:300475
HP:0000001	All	10134	BCAP31	ORPHA:369939
HP:0000001	All	22845	DOLK	OMIM:610768
HP:0000001	All	701	BUB1B	OMIM:257300
HP:0000001	All	5903	RANBP2	OMIM:608033
HP:0000001	All	5551	PRF1	OMIM:603553
HP:0000001	All	56246	MRAP	ORPHA:361
HP:0000001	All	6770	STAR	ORPHA:361
HP:0000001	All	4158	MC2R	ORPHA:361
HP:0000001	All	23530	NNT	ORPHA:361
HP:0000001	All	10587	TXNRD2	ORPHA:361
HP:0000001	All	374354	NHLRC2	OMIM:618278
HP:0000001	All	51693	TRAPPC2L	OMIM:618331
HP:0000001	All	64135	IFIH1	OMIM:615846
HP:0000001	All	57582	KCNT1	OMIM:614959
HP:0000001	All	23636	NUP62	ORPHA:225154
HP:0000001	All	103	ADAR	ORPHA:225154
HP:0000001	All	92335	STRADA	OMIM:611087
HP:0000001	All	3908	LAMA2	ORPHA:258
HP:0000001	All	8942	KYNU	ORPHA:79155
HP:0000001	All	132158	GLYCTK	ORPHA:941
HP:0000001	All	2774	GNAL	OMIM:615073
HP:0000001	All	2774	GNAL	ORPHA:329466
HP:0000001	All	51102	MECR	ORPHA:508093
HP:0000001	All	58494	JAM2	OMIM:618824
HP:0000001	All	54832	VPS13C	OMIM:616840
HP:0000001	All	55145	THAP1	ORPHA:98806
HP:0000001	All	55145	THAP1	OMIM:602629
HP:0000001	All	6571	SLC18A2	ORPHA:352649
HP:0000001	All	6872	TAF1	ORPHA:53351
HP:0000001	All	3208	HPCA	ORPHA:99657
HP:0000001	All	90522	YIF1B	OMIM:619125
HP:0000001	All	5610	EIF2AK2	OMIM:619687
HP:0000001	All	1841	DTYMK	OMIM:619847
HP:0000001	All	128486	FITM2	OMIM:618635
HP:0000001	All	150468	CKAP2L	ORPHA:3255
HP:0000001	All	63982	ANO3	ORPHA:420485
HP:0000001	All	8575	PRKRA	ORPHA:210571
HP:0000001	All	8575	PRKRA	OMIM:612067
HP:0000001	All	84504	NKX6-2	OMIM:617560
HP:0000001	All	3785	KCNQ2	ORPHA:439218
HP:0000001	All	5430	POLR2A	OMIM:618603
HP:0000001	All	113612	CYP2U1	ORPHA:320411
HP:0000001	All	55532	SLC30A10	ORPHA:309854
HP:0000001	All	80347	COASY	ORPHA:397725
HP:0000001	All	2512	FTL	ORPHA:157846
HP:0000001	All	318	NUDT2	OMIM:619844
HP:0000001	All	7072	TIA1	OMIM:604454
HP:0000001	All	1410	CRYAB	OMIM:608810
HP:0000001	All	8291	DYSF	OMIM:254130
HP:0000001	All	50717	DCAF8	OMIM:610100
HP:0000001	All	23435	TARDBP	ORPHA:275872
HP:0000001	All	4625	MYH7	ORPHA:59135
HP:0000001	All	4625	MYH7	OMIM:160500
HP:0000001	All	9499	MYOT	ORPHA:266
HP:0000001	All	7879	RAB7A	OMIM:600882
HP:0000001	All	7273	TTN	OMIM:608807
HP:0000001	All	7273	TTN	ORPHA:178464
HP:0000001	All	101060691	NUTM2B-AS1	OMIM:618637
HP:0000001	All	3508	IGHMBP2	OMIM:604320
HP:0000001	All	2673	GFPT1	ORPHA:353327
HP:0000001	All	85365	ALG2	ORPHA:353327
HP:0000001	All	60482	SLC5A7	OMIM:158580
HP:0000001	All	2892	GRIA3	OMIM:300699
HP:0000001	All	2892	GRIA3	ORPHA:364028
HP:0000001	All	57449	PLEKHG5	OMIM:615376
HP:0000001	All	57449	PLEKHG5	OMIM:611067
HP:0000001	All	274	BIN1	OMIM:255200
HP:0000001	All	7920	ABHD16A	OMIM:619735
HP:0000001	All	29967	LRP12	OMIM:164310
HP:0000001	All	4620	MYH2	OMIM:605637
HP:0000001	All	88	ACTN2	OMIM:618654
HP:0000001	All	88	ACTN2	OMIM:618655
HP:0000001	All	83636	C19orf12	OMIM:614298
HP:0000001	All	9517	SPTLC2	OMIM:613640
HP:0000001	All	9517	SPTLC2	ORPHA:36386
HP:0000001	All	65998	ZFTA	ORPHA:251636
HP:0000001	All	5970	RELA	ORPHA:251636
HP:0000001	All	25923	ATL3	ORPHA:36386
HP:0000001	All	5255	PHKA1	OMIM:300559
HP:0000001	All	60481	ELOVL5	OMIM:615957
HP:0000001	All	60481	ELOVL5	ORPHA:423296
HP:0000001	All	8898	MTMR2	OMIM:601382
HP:0000001	All	23095	KIF1B	OMIM:118210
HP:0000001	All	11261	CHP1	OMIM:618438
HP:0000001	All	8106	PABPN1	OMIM:164300
HP:0000001	All	19	ABCA1	ORPHA:31150
HP:0000001	All	3300	DNAJB2	OMIM:614881
HP:0000001	All	7317	UBA1	ORPHA:1145
HP:0000001	All	26353	HSPB8	OMIM:608673
HP:0000001	All	26353	HSPB8	OMIM:158590
HP:0000001	All	23479	ISCU	OMIM:255125
HP:0000001	All	79628	SH3TC2	OMIM:601596
HP:0000001	All	79628	SH3TC2	ORPHA:99949
HP:0000001	All	23534	TNPO3	OMIM:608423
HP:0000001	All	1785	DNM2	OMIM:606482
HP:0000001	All	8729	GBF1	OMIM:606483
HP:0000001	All	55906	ZC4H2	OMIM:301041
HP:0000001	All	127833	SYT2	OMIM:616040
HP:0000001	All	1305	COL13A1	OMIM:616720
HP:0000001	All	90678	LRSAM1	OMIM:614436
HP:0000001	All	7084	TK2	ORPHA:254875
HP:0000001	All	3035	HARS1	OMIM:616625
HP:0000001	All	2992	GYG1	OMIM:616199
HP:0000001	All	64423	INF2	OMIM:614455
HP:0000001	All	89874	SLC25A21	OMIM:618811
HP:0000001	All	9531	BAG3	OMIM:612954
HP:0000001	All	28982	FLVCR1	OMIM:609033
HP:0000001	All	65260	COA7	OMIM:618387
HP:0000001	All	10755	GIPC1	OMIM:618940
HP:0000001	All	1639	DCTN1	OMIM:607641
HP:0000001	All	5375	PMP2	OMIM:618279
HP:0000001	All	1674	DES	OMIM:601419
HP:0000001	All	8292	COLQ	ORPHA:98915
HP:0000001	All	3913	LAMB2	ORPHA:98915
HP:0000001	All	6663	SOX10	OMIM:609136
HP:0000001	All	3710	ITPR3	OMIM:620111
HP:0000001	All	9516	LITAF	OMIM:601098
HP:0000001	All	26092	TOR1AIP1	OMIM:617072
HP:0000001	All	3920	LAMP2	OMIM:300257
HP:0000001	All	283	ANG	OMIM:611895
HP:0000001	All	79784	MYH14	OMIM:614369
HP:0000001	All	8139	GAN	ORPHA:643
HP:0000001	All	8139	GAN	OMIM:256850
HP:0000001	All	4668	NAGA	OMIM:609242
HP:0000001	All	16	AARS1	OMIM:613287
HP:0000001	All	1371	CPOX	ORPHA:79273
HP:0000001	All	3145	HMBS	ORPHA:79276
HP:0000001	All	50846	DHH	ORPHA:168563
HP:0000001	All	1161	ERCC8	ORPHA:90324
HP:0000001	All	2074	ERCC6	ORPHA:90324
HP:0000001	All	727676	SNORD118	ORPHA:542310
HP:0000001	All	6575	SLC20A2	OMIM:213600
HP:0000001	All	5155	PDGFB	OMIM:213600
HP:0000001	All	1203	CLN5	ORPHA:228360
HP:0000001	All	3975	LHX1	ORPHA:261265
HP:0000001	All	6928	HNF1B	ORPHA:261265
HP:0000001	All	79853	TM4SF20	OMIM:615432
HP:0000001	All	6696	SPP1	ORPHA:93552
HP:0000001	All	3654	IRAK1	ORPHA:93552
HP:0000001	All	27286	SRPX2	ORPHA:98889
HP:0000001	All	5631	PRPS1	ORPHA:99014
HP:0000001	All	4854	NOTCH3	ORPHA:136
HP:0000001	All	55777	MBD5	OMIM:156200
HP:0000001	All	27086	FOXP1	OMIM:613670
HP:0000001	All	201163	FLCN	OMIM:610883
HP:0000001	All	5664	PSEN2	ORPHA:1020
HP:0000001	All	10452	TOMM40	ORPHA:1020
HP:0000001	All	351	APP	ORPHA:1020
HP:0000001	All	10347	ABCA7	ORPHA:1020
HP:0000001	All	6653	SORL1	ORPHA:1020
HP:0000001	All	1641	DCX	ORPHA:2148
HP:0000001	All	5621	PRNP	ORPHA:282166
HP:0000001	All	11160	ERLIN2	ORPHA:247604
HP:0000001	All	84188	FAR1	ORPHA:447753
HP:0000001	All	353116	RILPL1	OMIM:619790
HP:0000001	All	11253	MAN1B1	ORPHA:397941
HP:0000001	All	57459	GATAD2B	OMIM:615074
HP:0000001	All	57459	GATAD2B	ORPHA:363686
HP:0000001	All	55823	VPS11	OMIM:616683
HP:0000001	All	55823	VPS11	ORPHA:466934
HP:0000001	All	2132	EXT2	OMIM:616682
HP:0000001	All	51126	NAA20	OMIM:619717
HP:0000001	All	132	ADK	OMIM:614300
HP:0000001	All	25821	MTO1	OMIM:614702
HP:0000001	All	6418	SET	OMIM:618106
HP:0000001	All	7109	TRAPPC10	OMIM:620027
HP:0000001	All	79796	ALG9	OMIM:608776
HP:0000001	All	5279	PIGC	OMIM:617816
HP:0000001	All	3190	HNRNPK	ORPHA:453504
HP:0000001	All	3190	HNRNPK	OMIM:616580
HP:0000001	All	3190	HNRNPK	ORPHA:352665
HP:0000001	All	1120	CHKB	OMIM:602541
HP:0000001	All	57165	GJC2	OMIM:608804
HP:0000001	All	7707	ZNF148	OMIM:617260
HP:0000001	All	2593	GAMT	ORPHA:382
HP:0000001	All	6873	TAF2	ORPHA:397951
HP:0000001	All	1436	CSF1R	OMIM:618476
HP:0000001	All	6616	SNAP25	OMIM:616330
HP:0000001	All	790	CAD	OMIM:616457
HP:0000001	All	84197	POMK	OMIM:615249
HP:0000001	All	11152	WDR45	ORPHA:329284
HP:0000001	All	11152	WDR45	OMIM:300894
HP:0000001	All	26224	FBXL3	OMIM:606220
HP:0000001	All	6904	TBCD	ORPHA:496641
HP:0000001	All	90161	HS6ST2	OMIM:301025
HP:0000001	All	29925	GMPPB	ORPHA:370968
HP:0000001	All	79147	FKRP	ORPHA:370968
HP:0000001	All	29954	POMT2	ORPHA:370968
HP:0000001	All	9215	LARGE1	ORPHA:370968
HP:0000001	All	10585	POMT1	ORPHA:370968
HP:0000001	All	7337	UBE3A	ORPHA:98794
HP:0000001	All	7337	UBE3A	ORPHA:98795
HP:0000001	All	7337	UBE3A	ORPHA:411515
HP:0000001	All	4948	OCA2	ORPHA:98794
HP:0000001	All	10559	SLC35A1	OMIM:603585
HP:0000001	All	51116	MRPS2	OMIM:617950
HP:0000001	All	5119	CHMP1A	OMIM:614961
HP:0000001	All	1757	SARDH	ORPHA:3129
HP:0000001	All	7436	VLDLR	OMIM:224050
HP:0000001	All	93986	FOXP2	ORPHA:209908
HP:0000001	All	93627	TBCK	OMIM:616900
HP:0000001	All	116442	RAB39B	OMIM:311510
HP:0000001	All	83480	PUS3	ORPHA:488627
HP:0000001	All	56776	FMN2	OMIM:616193
HP:0000001	All	7319	UBE2A	OMIM:300860
HP:0000001	All	7319	UBE2A	ORPHA:163956
HP:0000001	All	1605	DAG1	ORPHA:280333
HP:0000001	All	5283	PIGH	OMIM:618010
HP:0000001	All	2257	FGF12	OMIM:617166
HP:0000001	All	3340	NDST1	OMIM:616116
HP:0000001	All	1729	DIAPH1	OMIM:616632
HP:0000001	All	84342	COG8	ORPHA:95428
HP:0000001	All	28514	DLL1	ORPHA:93926
HP:0000001	All	28514	DLL1	ORPHA:93924
HP:0000001	All	28514	DLL1	ORPHA:93925
HP:0000001	All	28514	DLL1	ORPHA:220386
HP:0000001	All	2253	FGF8	ORPHA:93926
HP:0000001	All	2253	FGF8	ORPHA:93924
HP:0000001	All	2253	FGF8	ORPHA:93925
HP:0000001	All	2253	FGF8	ORPHA:220386
HP:0000001	All	6496	SIX3	ORPHA:93926
HP:0000001	All	6496	SIX3	ORPHA:93924
HP:0000001	All	6496	SIX3	ORPHA:93925
HP:0000001	All	6496	SIX3	ORPHA:220386
HP:0000001	All	7050	TGIF1	ORPHA:93926
HP:0000001	All	7050	TGIF1	ORPHA:93924
HP:0000001	All	7050	TGIF1	ORPHA:93925
HP:0000001	All	7050	TGIF1	ORPHA:220386
HP:0000001	All	4838	NODAL	ORPHA:93926
HP:0000001	All	4838	NODAL	ORPHA:93924
HP:0000001	All	4838	NODAL	ORPHA:93925
HP:0000001	All	4838	NODAL	ORPHA:220386
HP:0000001	All	7546	ZIC2	ORPHA:93926
HP:0000001	All	7546	ZIC2	ORPHA:93924
HP:0000001	All	7546	ZIC2	ORPHA:93925
HP:0000001	All	7546	ZIC2	ORPHA:220386
HP:0000001	All	6491	STIL	ORPHA:93926
HP:0000001	All	6491	STIL	ORPHA:93924
HP:0000001	All	6491	STIL	ORPHA:93925
HP:0000001	All	6491	STIL	ORPHA:220386
HP:0000001	All	2619	GAS1	ORPHA:93926
HP:0000001	All	2619	GAS1	ORPHA:93924
HP:0000001	All	2619	GAS1	ORPHA:93925
HP:0000001	All	2619	GAS1	ORPHA:220386
HP:0000001	All	84976	DISP1	ORPHA:93926
HP:0000001	All	84976	DISP1	ORPHA:93924
HP:0000001	All	84976	DISP1	ORPHA:93925
HP:0000001	All	84976	DISP1	ORPHA:220386
HP:0000001	All	8928	FOXH1	ORPHA:93926
HP:0000001	All	8928	FOXH1	ORPHA:93924
HP:0000001	All	8928	FOXH1	ORPHA:93925
HP:0000001	All	8928	FOXH1	ORPHA:220386
HP:0000001	All	50937	CDON	ORPHA:93926
HP:0000001	All	50937	CDON	ORPHA:93924
HP:0000001	All	50937	CDON	ORPHA:93925
HP:0000001	All	50937	CDON	ORPHA:220386
HP:0000001	All	8635	RNASET2	OMIM:612951
HP:0000001	All	23007	PLCH1	ORPHA:93925
HP:0000001	All	10735	STAG2	ORPHA:93925
HP:0000001	All	10735	STAG2	ORPHA:220386
HP:0000001	All	10382	TUBB4A	OMIM:612438
HP:0000001	All	388662	SLC6A17	ORPHA:457212
HP:0000001	All	5063	PAK3	OMIM:300558
HP:0000001	All	163786	SASS6	OMIM:616402
HP:0000001	All	4983	OPHN1	ORPHA:137831
HP:0000001	All	85440	DOCK7	ORPHA:411986
HP:0000001	All	26047	CNTNAP2	ORPHA:163681
HP:0000001	All	26047	CNTNAP2	OMIM:610042
HP:0000001	All	1737	DLAT	OMIM:245348
HP:0000001	All	5058	PAK1	OMIM:618158
HP:0000001	All	2232	FDXR	ORPHA:543470
HP:0000001	All	57570	TRMT5	OMIM:616539
HP:0000001	All	54112	GPR88	OMIM:616939
HP:0000001	All	93587	TRMT10A	ORPHA:391408
HP:0000001	All	84919	PPP1R15B	ORPHA:391408
HP:0000001	All	55691	FRMD4A	ORPHA:466688
HP:0000001	All	10717	AP4B1	ORPHA:280763
HP:0000001	All	11154	AP4S1	ORPHA:280763
HP:0000001	All	23431	AP4E1	ORPHA:280763
HP:0000001	All	4841	NONO	ORPHA:466791
HP:0000001	All	23545	ATP6V0A2	ORPHA:357074
HP:0000001	All	523	ATP6V1A	ORPHA:357074
HP:0000001	All	5528	PPP2R5D	ORPHA:457279
HP:0000001	All	55084	SOBP	OMIM:613671
HP:0000001	All	476	ATP1A1	ORPHA:564178
HP:0000001	All	2990	GUSB	OMIM:253220
HP:0000001	All	9928	KIF14	OMIM:617914
HP:0000001	All	5879	RAC1	ORPHA:500159
HP:0000001	All	162417	NAGS	ORPHA:927
HP:0000001	All	3458	IFNG	ORPHA:805
HP:0000001	All	7248	TSC1	ORPHA:805
HP:0000001	All	7249	TSC2	ORPHA:805
HP:0000001	All	11043	MID2	OMIM:300928
HP:0000001	All	9757	KMT2B	OMIM:619934
HP:0000001	All	54936	ADPRS	OMIM:618170
HP:0000001	All	26100	WIPI2	OMIM:618453
HP:0000001	All	8295	TRRAP	OMIM:618454
HP:0000001	All	341208	HEPHL1	OMIM:261990
HP:0000001	All	4281	MID1	ORPHA:2745
HP:0000001	All	6878	TAF6	OMIM:617126
HP:0000001	All	5518	PPP2R1A	ORPHA:457284
HP:0000001	All	57194	ATP10A	ORPHA:411515
HP:0000001	All	22	ABCB7	OMIM:301310
HP:0000001	All	131118	DNAJC19	OMIM:610198
HP:0000001	All	3708	ITPR1	OMIM:117360
HP:0000001	All	5457	POU4F1	ORPHA:314647
HP:0000001	All	23261	CAMTA1	ORPHA:314647
HP:0000001	All	85300	ATCAY	ORPHA:94122
HP:0000001	All	55280	CWF19L1	ORPHA:453521
HP:0000001	All	55835	CENPJ	OMIM:608393
HP:0000001	All	259266	ASPM	OMIM:608716
HP:0000001	All	8621	CDK13	OMIM:617360
HP:0000001	All	55755	CDK5RAP2	OMIM:604804
HP:0000001	All	79648	MCPH1	OMIM:251200
HP:0000001	All	63925	ZNF335	ORPHA:329228
HP:0000001	All	644096	SDHAF1	ORPHA:3208
HP:0000001	All	9439	MED23	OMIM:614249
HP:0000001	All	8085	KMT2D	OMIM:620186
HP:0000001	All	27245	AHDC1	ORPHA:412069
HP:0000001	All	55186	SLC25A36	OMIM:620211
HP:0000001	All	60529	ALX4	ORPHA:60015
HP:0000001	All	168667	BMPER	ORPHA:66637
HP:0000001	All	57216	VANGL2	OMIM:182940
HP:0000001	All	6347	CCL2	OMIM:182940
HP:0000001	All	81839	VANGL1	OMIM:182940
HP:0000001	All	81839	VANGL1	OMIM:600145
HP:0000001	All	6862	TBXT	OMIM:182940
HP:0000001	All	80199	FUZ	OMIM:182940
HP:0000001	All	80199	FUZ	ORPHA:1136
HP:0000001	All	10093	ARPC4	OMIM:620141
HP:0000001	All	6628	SNRPB	ORPHA:1393
HP:0000001	All	84667	HES7	OMIM:613686
HP:0000001	All	10984	KCNQ1OT1	ORPHA:2128
HP:0000001	All	283120	H19	ORPHA:2128
HP:0000001	All	51324	SPG21	OMIM:248900
HP:0000001	All	51324	SPG21	ORPHA:101001
HP:0000001	All	8818	DPM2	OMIM:615042
HP:0000001	All	8722	CTSF	OMIM:615362
HP:0000001	All	6487	ST3GAL3	OMIM:615006
HP:0000001	All	22931	RAB18	OMIM:614222
HP:0000001	All	57338	JPH3	ORPHA:98934
HP:0000001	All	23400	ATP13A2	ORPHA:513436
HP:0000001	All	5354	PLP1	ORPHA:280234
HP:0000001	All	5354	PLP1	OMIM:312080
HP:0000001	All	54	ACP5	OMIM:607944
HP:0000001	All	2760	GM2A	ORPHA:309246
HP:0000001	All	79152	FA2H	ORPHA:329308
HP:0000001	All	6711	SPTBN1	OMIM:619475
HP:0000001	All	133686	NADK2	ORPHA:431361
HP:0000001	All	383	ARG1	OMIM:207800
HP:0000001	All	383	ARG1	ORPHA:90
HP:0000001	All	5048	PAFAH1B1	ORPHA:95232
HP:0000001	All	1738	DLD	ORPHA:2394
HP:0000001	All	60561	RINT1	OMIM:618641
HP:0000001	All	57169	ZNFX1	OMIM:619644
HP:0000001	All	5105	PCK1	OMIM:261680
HP:0000001	All	54914	FOCAD	OMIM:619991
HP:0000001	All	7289	TULP3	OMIM:619902
HP:0000001	All	10165	SLC25A13	ORPHA:247585
HP:0000001	All	331	XIAP	OMIM:308240
HP:0000001	All	4068	SH2D1A	OMIM:308240
HP:0000001	All	9451	EIF2AK3	ORPHA:1667
HP:0000001	All	410	ARSA	ORPHA:309271
HP:0000001	All	6261	RYR1	ORPHA:597
HP:0000001	All	65055	REEP1	ORPHA:101011
HP:0000001	All	9782	MATR3	OMIM:606070
HP:0000001	All	84665	MYPN	ORPHA:171439
HP:0000001	All	390594	KBTBD13	ORPHA:171439
HP:0000001	All	7170	TPM3	ORPHA:171439
HP:0000001	All	6507	SLC1A3	ORPHA:2131
HP:0000001	All	477	ATP1A2	ORPHA:2131
HP:0000001	All	478	ATP1A3	ORPHA:2131
HP:0000001	All	478	ATP1A3	OMIM:128235
HP:0000001	All	8398	PLA2G6	ORPHA:35069
HP:0000001	All	80208	SPG11	OMIM:602099
HP:0000001	All	80208	SPG11	ORPHA:300605
HP:0000001	All	9217	VAPB	OMIM:608627
HP:0000001	All	4535	MT-ND1	ORPHA:255210
HP:0000001	All	4536	MT-ND2	ORPHA:255210
HP:0000001	All	4537	MT-ND3	ORPHA:255210
HP:0000001	All	4538	MT-ND4	ORPHA:255210
HP:0000001	All	4567	MT-TL1	ORPHA:255210
HP:0000001	All	4578	MT-TW	ORPHA:255210
HP:0000001	All	4577	MT-TV	ORPHA:255210
HP:0000001	All	4508	MT-ATP6	ORPHA:255210
HP:0000001	All	4540	MT-ND5	ORPHA:255210
HP:0000001	All	4541	MT-ND6	ORPHA:255210
HP:0000001	All	4566	MT-TK	ORPHA:255210
HP:0000001	All	2521	FUS	ORPHA:300605
HP:0000001	All	10280	SIGMAR1	ORPHA:300605
HP:0000001	All	10558	SPTLC1	ORPHA:300605
HP:0000001	All	57679	ALS2	ORPHA:300605
HP:0000001	All	2629	GBA1	OMIM:230900
HP:0000001	All	2934	GSN	ORPHA:85448
HP:0000001	All	2670	GFAP	OMIM:203450
HP:0000001	All	10342	TFG	ORPHA:90117
HP:0000001	All	400916	CHCHD10	ORPHA:276435
HP:0000001	All	23516	SLC39A14	ORPHA:521406
HP:0000001	All	6310	ATXN1	ORPHA:98755
HP:0000001	All	487	ATP2A1	OMIM:601003
HP:0000001	All	5213	PFKM	ORPHA:371
HP:0000001	All	7345	UCHL1	OMIM:615491
HP:0000001	All	6329	SCN4A	OMIM:170400
HP:0000001	All	6329	SCN4A	OMIM:170500
HP:0000001	All	6329	SCN4A	OMIM:608390
HP:0000001	All	6329	SCN4A	ORPHA:99735
HP:0000001	All	6329	SCN4A	ORPHA:99736
HP:0000001	All	6329	SCN4A	ORPHA:684
HP:0000001	All	6329	SCN4A	ORPHA:682
HP:0000001	All	6329	SCN4A	ORPHA:681
HP:0000001	All	6329	SCN4A	OMIM:613345
HP:0000001	All	779	CACNA1S	OMIM:170400
HP:0000001	All	779	CACNA1S	ORPHA:79102
HP:0000001	All	779	CACNA1S	ORPHA:681
HP:0000001	All	203547	VMA21	OMIM:310440
HP:0000001	All	7555	CNBP	ORPHA:606
HP:0000001	All	7555	CNBP	OMIM:602668
HP:0000001	All	1180	CLCN1	OMIM:255700
HP:0000001	All	1180	CLCN1	ORPHA:614
HP:0000001	All	1180	CLCN1	OMIM:160800
HP:0000001	All	100134444	KCNJ18	ORPHA:79102
HP:0000001	All	2556	GABRA3	ORPHA:79102
HP:0000001	All	2010	EMD	ORPHA:98863
HP:0000001	All	773	CACNA1A	OMIM:108500
HP:0000001	All	3339	HSPG2	ORPHA:800
HP:0000001	All	10008	KCNE3	ORPHA:681
HP:0000001	All	1760	DMPK	ORPHA:589821
HP:0000001	All	1760	DMPK	OMIM:160900
HP:0000001	All	4000	LMNA	ORPHA:98855
HP:0000001	All	4000	LMNA	ORPHA:98853
HP:0000001	All	79188	TMEM43	ORPHA:98853
HP:0000001	All	23224	SYNE2	ORPHA:98853
HP:0000001	All	80185	TTI2	ORPHA:391307
HP:0000001	All	55768	NGLY1	OMIM:615273
HP:0000001	All	55768	NGLY1	ORPHA:404454
HP:0000001	All	2775	GNAO1	OMIM:617493
HP:0000001	All	57187	THOC2	OMIM:300957
HP:0000001	All	57187	THOC2	ORPHA:457240
HP:0000001	All	60684	TRAPPC11	OMIM:615356
HP:0000001	All	60684	TRAPPC11	ORPHA:369847
HP:0000001	All	6531	SLC6A3	OMIM:613135
HP:0000001	All	7701	ZNF142	OMIM:618425
HP:0000001	All	6323	SCN1A	OMIM:619317
HP:0000001	All	2643	GCH1	OMIM:233910
HP:0000001	All	10846	PDE10A	OMIM:616921
HP:0000001	All	25914	RTTN	ORPHA:468631
HP:0000001	All	4552	MTRR	OMIM:236270
HP:0000001	All	2571	GAD1	OMIM:619124
HP:0000001	All	6857	SYT1	ORPHA:522077
HP:0000001	All	6857	SYT1	OMIM:618218
HP:0000001	All	10730	YME1L1	OMIM:617302
HP:0000001	All	5660	PSAP	OMIM:611721
HP:0000001	All	29920	PYCR2	OMIM:616420
HP:0000001	All	23732	FRRS1L	OMIM:616981
HP:0000001	All	23732	FRRS1L	ORPHA:725
HP:0000001	All	777	CACNA1E	OMIM:618285
HP:0000001	All	816	CAMK2B	OMIM:617799
HP:0000001	All	10352	WARS2	OMIM:619738
HP:0000001	All	2903	GRIN2A	ORPHA:725
HP:0000001	All	10020	GNE	ORPHA:3166
HP:0000001	All	5805	PTS	ORPHA:13
HP:0000001	All	23096	IQSEC2	ORPHA:397933
HP:0000001	All	774	CACNA1B	OMIM:618497
HP:0000001	All	81570	CLPB	OMIM:616271
HP:0000001	All	8802	SUCLG1	ORPHA:17
HP:0000001	All	2902	GRIN1	OMIM:614254
HP:0000001	All	8803	SUCLA2	OMIM:612073
HP:0000001	All	4761	NEUROD2	OMIM:618374
HP:0000001	All	23230	VPS13A	ORPHA:2388
HP:0000001	All	6326	SCN2A	OMIM:613721
HP:0000001	All	7915	ALDH5A1	OMIM:271980
HP:0000001	All	112476	PRRT2	ORPHA:98810
HP:0000001	All	25953	PNKD	ORPHA:98810
HP:0000001	All	3028	HSD17B10	ORPHA:391428
HP:0000001	All	5566	PRKACA	ORPHA:289
HP:0000001	All	5567	PRKACB	ORPHA:289
HP:0000001	All	2121	EVC	ORPHA:289
HP:0000001	All	51626	DYNC2LI1	ORPHA:289
HP:0000001	All	132884	EVC2	ORPHA:289
HP:0000001	All	10019	SH2B3	ORPHA:3318
HP:0000001	All	412	STS	ORPHA:281090
HP:0000001	All	7454	WAS	ORPHA:906
HP:0000001	All	7456	WIPF1	ORPHA:906
HP:0000001	All	7518	XRCC4	ORPHA:99812
HP:0000001	All	3981	LIG4	ORPHA:99812
HP:0000001	All	54209	TREM2	ORPHA:2770
HP:0000001	All	4683	NBN	ORPHA:647
HP:0000001	All	4702	NDUFA8	OMIM:619272
HP:0000001	All	9997	SCO2	OMIM:604377
HP:0000001	All	9997	SCO2	ORPHA:70474
HP:0000001	All	4558	MT-TF	ORPHA:550
HP:0000001	All	4572	MT-TQ	ORPHA:550
HP:0000001	All	4512	MT-CO1	ORPHA:550
HP:0000001	All	4513	MT-CO2	ORPHA:550
HP:0000001	All	4514	MT-CO3	ORPHA:550
HP:0000001	All	4574	MT-TS1	ORPHA:550
HP:0000001	All	4574	MT-TS1	OMIM:220110
HP:0000001	All	4575	MT-TS2	ORPHA:550
HP:0000001	All	4564	MT-TH	ORPHA:550
HP:0000001	All	57128	LYRM4	OMIM:615595
HP:0000001	All	4570	MT-TN	OMIM:220110
HP:0000001	All	6834	SURF1	OMIM:220110
HP:0000001	All	6834	SURF1	ORPHA:70474
HP:0000001	All	6834	SURF1	ORPHA:255241
HP:0000001	All	64849	SLC13A3	OMIM:618384
HP:0000001	All	92609	TIMM50	OMIM:617698
HP:0000001	All	10059	DNM1L	OMIM:614388
HP:0000001	All	85476	GFM1	OMIM:609060
HP:0000001	All	4191	MDH2	OMIM:617339
HP:0000001	All	84334	COA8	ORPHA:436271
HP:0000001	All	90624	LYRM7	OMIM:615838
HP:0000001	All	123263	MTFMT	OMIM:614947
HP:0000001	All	123263	MTFMT	ORPHA:255241
HP:0000001	All	8659	ALDH4A1	ORPHA:79101
HP:0000001	All	10667	FARS2	OMIM:614946
HP:0000001	All	8050	PDHX	ORPHA:255182
HP:0000001	All	4714	NDUFB8	ORPHA:70474
HP:0000001	All	4714	NDUFB8	OMIM:618252
HP:0000001	All	51112	TRAPPC12	ORPHA:500144
HP:0000001	All	128240	NAXE	OMIM:617186
HP:0000001	All	291	SLC25A4	OMIM:617184
HP:0000001	All	291	SLC25A4	OMIM:615418
HP:0000001	All	65993	MRPS34	OMIM:617664
HP:0000001	All	25828	TXN2	ORPHA:478029
HP:0000001	All	25828	TXN2	OMIM:616811
HP:0000001	All	5160	PDHA1	OMIM:312170
HP:0000001	All	5160	PDHA1	ORPHA:255241
HP:0000001	All	5160	PDHA1	ORPHA:79243
HP:0000001	All	56997	COQ8A	ORPHA:139485
HP:0000001	All	56997	COQ8A	OMIM:612016
HP:0000001	All	1352	COX10	OMIM:619046
HP:0000001	All	84340	GFM2	OMIM:618397
HP:0000001	All	84340	GFM2	ORPHA:565624
HP:0000001	All	54931	TRMT10C	OMIM:616974
HP:0000001	All	539	ATP5PO	OMIM:620359
HP:0000001	All	57038	RARS2	OMIM:611523
HP:0000001	All	4204	MECP2	ORPHA:778
HP:0000001	All	87178	PNPT1	ORPHA:319514
HP:0000001	All	87178	PNPT1	OMIM:614932
HP:0000001	All	1340	COX6B1	OMIM:619051
HP:0000001	All	6389	SDHA	ORPHA:255241
HP:0000001	All	80704	SLC19A3	ORPHA:255241
HP:0000001	All	55967	NDUFA12	ORPHA:255241
HP:0000001	All	55967	NDUFA12	OMIM:618244
HP:0000001	All	51204	TACO1	ORPHA:255241
HP:0000001	All	137682	NDUFAF6	ORPHA:255241
HP:0000001	All	100131801	PET100	ORPHA:255241
HP:0000001	All	100131801	PET100	OMIM:619055
HP:0000001	All	1355	COX15	ORPHA:255241
HP:0000001	All	1892	ECHS1	ORPHA:255241
HP:0000001	All	1892	ECHS1	OMIM:616277
HP:0000001	All	51079	NDUFA13	ORPHA:255241
HP:0000001	All	51601	LIPT1	ORPHA:255241
HP:0000001	All	4695	NDUFA2	ORPHA:255241
HP:0000001	All	4697	NDUFA4	ORPHA:255241
HP:0000001	All	4697	NDUFA4	OMIM:619065
HP:0000001	All	4704	NDUFA9	ORPHA:255241
HP:0000001	All	84987	COX14	OMIM:619053
HP:0000001	All	1351	COX8A	OMIM:619059
HP:0000001	All	116228	COX20	OMIM:619054
HP:0000001	All	200205	IBA57	OMIM:615330
HP:0000001	All	60386	SLC25A19	OMIM:613710
HP:0000001	All	55005	RMND1	OMIM:614922
HP:0000001	All	64116	SLC39A8	ORPHA:468699
HP:0000001	All	91647	ATPAF2	OMIM:604273
HP:0000001	All	100303755	PET117	OMIM:619063
HP:0000001	All	27247	NFU1	OMIM:605711
HP:0000001	All	1327	COX4I1	OMIM:619060
HP:0000001	All	84842	HPDL	OMIM:619026
HP:0000001	All	790955	UQCC3	OMIM:616111
HP:0000001	All	27429	HTRA2	OMIM:617248
HP:0000001	All	84300	UQCC2	OMIM:615824
HP:0000001	All	79731	NARS2	OMIM:616239
HP:0000001	All	27010	TPK1	OMIM:614458
HP:0000001	All	10126	DNAL4	ORPHA:238722
HP:0000001	All	9423	NTN1	ORPHA:238722
HP:0000001	All	1630	DCC	ORPHA:238722
HP:0000001	All	2581	GALC	ORPHA:206448
HP:0000001	All	85465	SELENOI	ORPHA:506353
HP:0000001	All	4524	MTHFR	ORPHA:395
HP:0000001	All	80025	PANK2	ORPHA:216873
HP:0000001	All	55187	VPS13D	ORPHA:95434
HP:0000001	All	27072	VPS41	ORPHA:95434
HP:0000001	All	3798	KIF5A	ORPHA:100991
HP:0000001	All	54828	BCAS3	OMIM:619641
HP:0000001	All	3074	HEXB	OMIM:268800
HP:0000001	All	443	ASPA	ORPHA:314918
HP:0000001	All	55131	RBM28	OMIM:612079
HP:0000001	All	25978	CHMP2B	ORPHA:275864
HP:0000001	All	5663	PSEN1	ORPHA:275864
HP:0000001	All	2896	GRN	ORPHA:275864
HP:0000001	All	8878	SQSTM1	ORPHA:275864
HP:0000001	All	7415	VCP	ORPHA:275864
HP:0000001	All	7415	VCP	ORPHA:52430
HP:0000001	All	4001	LMNB1	ORPHA:99027
HP:0000001	All	3178	HNRNPA1	ORPHA:52430
HP:0000001	All	3181	HNRNPA2B1	ORPHA:52430
HP:0000001	All	3060	HCRT	OMIM:161400
HP:0000001	All	3060	HCRT	ORPHA:2073
HP:0000001	All	1512	CTSH	ORPHA:2073
HP:0000001	All	5032	P2RY11	ORPHA:2073
HP:0000001	All	4340	MOG	ORPHA:2073
HP:0000001	All	3119	HLA-DQB1	ORPHA:2073
HP:0000001	All	22891	ZNF365	ORPHA:2073
HP:0000001	All	7292	TNFSF4	ORPHA:2073
HP:0000001	All	3123	HLA-DRB1	ORPHA:2073
HP:0000001	All	27235	COQ2	ORPHA:227510
HP:0000001	All	27235	COQ2	ORPHA:98933
HP:0000001	All	1786	DNMT1	OMIM:604121
HP:0000001	All	7528	YY1	ORPHA:97279
HP:0000001	All	51128	SAR1B	OMIM:246700
HP:0000001	All	51062	ATL1	ORPHA:100984
HP:0000001	All	9420	CYP7B1	ORPHA:100986
HP:0000001	All	123606	NIPA1	ORPHA:100988
HP:0000001	All	59335	PRDM12	OMIM:616488
HP:0000001	All	4744	NEFH	OMIM:616924
HP:0000001	All	2617	GARS1	ORPHA:139536
HP:0000001	All	4803	NGF	OMIM:608654
HP:0000001	All	25894	PLEKHG4	ORPHA:98765
HP:0000001	All	56652	TWNK	ORPHA:70595
HP:0000001	All	724066	ATXN8	ORPHA:98760
HP:0000001	All	6315	ATXN8OS	ORPHA:98760
HP:0000001	All	4669	NAGLU	OMIM:616491
HP:0000001	All	10528	NOP56	OMIM:614153
HP:0000001	All	6652	SORD	OMIM:618912
HP:0000001	All	5192	PEX10	OMIM:614871
HP:0000001	All	2259	FGF14	OMIM:193003
HP:0000001	All	146227	BEAN1	ORPHA:217012
HP:0000001	All	10166	SLC25A15	ORPHA:415
HP:0000001	All	10166	SLC25A15	OMIM:238970
HP:0000001	All	137492	VPS37A	ORPHA:319199
HP:0000001	All	137492	VPS37A	OMIM:614898
HP:0000001	All	11284	PNKP	OMIM:616267
HP:0000001	All	2395	FXN	OMIM:229300
HP:0000001	All	9692	PRORP	OMIM:619737
HP:0000001	All	4099	MAG	ORPHA:459056
HP:0000001	All	57704	GBA2	OMIM:614409
HP:0000001	All	4556	MT-TE	ORPHA:2596
HP:0000001	All	4547	MTTP	ORPHA:14
HP:0000001	All	6712	SPTBN2	OMIM:600224
HP:0000001	All	59345	GNB4	OMIM:615185
HP:0000001	All	5297	PI4KA	OMIM:619621
HP:0000001	All	55775	TDP1	OMIM:607250
HP:0000001	All	2583	B4GALNT1	OMIM:609195
HP:0000001	All	6342	SCP2	OMIM:613724
HP:0000001	All	10456	HAX1	OMIM:610738
HP:0000001	All	10749	KIF1C	ORPHA:397946
HP:0000001	All	10749	KIF1C	OMIM:611302
HP:0000001	All	5654	HTRA1	ORPHA:199354
HP:0000001	All	92935	MARS2	OMIM:611390
HP:0000001	All	92935	MARS2	ORPHA:314603
HP:0000001	All	56978	PRDM8	OMIM:616640
HP:0000001	All	55149	MTPAP	OMIM:613672
HP:0000001	All	10381	TUBB3	ORPHA:300570
HP:0000001	All	10939	AFG3L2	OMIM:614487
HP:0000001	All	4038	LRP4	OMIM:614305
HP:0000001	All	54834	GDAP2	OMIM:618369
HP:0000001	All	55157	DARS2	ORPHA:137898
HP:0000001	All	6843	VAMP1	OMIM:108600
HP:0000001	All	6843	VAMP1	ORPHA:251282
HP:0000001	All	27249	MMADHC	OMIM:277410
HP:0000001	All	26115	TANC2	OMIM:618906
HP:0000001	All	6687	SPG7	OMIM:607259
HP:0000001	All	6905	TBCE	ORPHA:496756
HP:0000001	All	498	ATP5F1A	OMIM:620358
HP:0000001	All	51218	GLRX5	OMIM:616859
HP:0000001	All	26278	SACS	OMIM:270550
HP:0000001	All	55958	KLHL9	ORPHA:399081
HP:0000001	All	9365	KL	OMIM:617994
HP:0000001	All	56160	NSMCE3	OMIM:617241
HP:0000001	All	1297	COL9A1	ORPHA:166002
HP:0000001	All	8557	TCAP	OMIM:601954
HP:0000001	All	374393	FAM111B	OMIM:615704
HP:0000001	All	84909	AOPEP	OMIM:619565
HP:0000001	All	170825	GSX2	OMIM:618646
HP:0000001	All	5700	PSMC1	OMIM:620071
HP:0000001	All	1041	CDSN	ORPHA:90368
HP:0000001	All	121391	KRT74	ORPHA:90368
HP:0000001	All	51702	PADI3	ORPHA:1410
HP:0000001	All	668	FOXL2	ORPHA:572333
HP:0000001	All	668	FOXL2	OMIM:110100
HP:0000001	All	23511	NUP188	OMIM:618804
HP:0000001	All	3691	ITGB4	OMIM:619816
HP:0000001	All	79574	EPS8L3	OMIM:612841
HP:0000001	All	55806	HR	OMIM:203655
HP:0000001	All	1586	CYP17A1	ORPHA:90793
HP:0000001	All	3858	KRT10	OMIM:609165
HP:0000001	All	10220	GDF11	OMIM:619122
HP:0000001	All	5792	PTPRF	OMIM:616001
HP:0000001	All	10216	PRG4	OMIM:208250
HP:0000001	All	6495	SIX1	OMIM:113650
HP:0000001	All	8882	ZPR1	OMIM:619321
HP:0000001	All	25790	CFAP45	OMIM:619608
HP:0000001	All	118856	MMP21	OMIM:616749
HP:0000001	All	3670	ISL1	ORPHA:93930
HP:0000001	All	10653	SPINT2	OMIM:270420
HP:0000001	All	9414	TJP2	OMIM:607748
HP:0000001	All	80270	HSD3B7	OMIM:607765
HP:0000001	All	6555	SLC10A2	OMIM:613291
HP:0000001	All	6718	AKR1D1	OMIM:235555
HP:0000001	All	6718	AKR1D1	ORPHA:79303
HP:0000001	All	11330	CTRC	OMIM:167800
HP:0000001	All	6690	SPINK1	OMIM:167800
HP:0000001	All	5645	PRSS2	OMIM:167800
HP:0000001	All	5644	PRSS1	OMIM:167800
HP:0000001	All	123264	SLC51B	OMIM:619481
HP:0000001	All	2947	GSTM3	ORPHA:586
HP:0000001	All	1084	CEACAM3	ORPHA:586
HP:0000001	All	6556	SLC11A1	ORPHA:586
HP:0000001	All	51164	DCTN4	ORPHA:586
HP:0000001	All	3783	KCNN4	ORPHA:586
HP:0000001	All	4282	MIF	ORPHA:586
HP:0000001	All	1909	EDNRA	ORPHA:586
HP:0000001	All	6550	SLC9A3	ORPHA:586
HP:0000001	All	115019	SLC26A9	ORPHA:586
HP:0000001	All	11254	SLC6A14	ORPHA:586
HP:0000001	All	5265	SERPINA1	ORPHA:586
HP:0000001	All	22802	CLCA4	ORPHA:586
HP:0000001	All	4680	CEACAM6	ORPHA:586
HP:0000001	All	5406	PNLIP	OMIM:614338
HP:0000001	All	64711	HS3ST6	OMIM:619367
HP:0000001	All	10660	LBX1	OMIM:619483
HP:0000001	All	57107	PDSS2	ORPHA:255249
HP:0000001	All	83483	PLVAP	OMIM:618183
HP:0000001	All	79577	CDC73	ORPHA:99880
HP:0000001	All	79577	CDC73	ORPHA:143
HP:0000001	All	1616	DAXX	ORPHA:100075
HP:0000001	All	2161	F12	OMIM:610618
HP:0000001	All	8516	ITGA8	ORPHA:1848
HP:0000001	All	26281	FGF20	ORPHA:1848
HP:0000001	All	2674	GFRA1	ORPHA:1848
HP:0000001	All	7484	WNT9B	ORPHA:1848
HP:0000001	All	80000	GREB1L	ORPHA:1848
HP:0000001	All	10606	PAICS	OMIM:619859
HP:0000001	All	26585	GREM1	ORPHA:157794
HP:0000001	All	219972	MPEG1	OMIM:619223
HP:0000001	All	4193	MDM2	ORPHA:99971
HP:0000001	All	1649	DDIT3	ORPHA:99967
HP:0000001	All	1131	CHRM3	ORPHA:2970
HP:0000001	All	1174	AP1S1	OMIM:609313
HP:0000001	All	4790	NFKB1	OMIM:616576
HP:0000001	All	999	CDH1	OMIM:137215
HP:0000001	All	9051	PSTPIP1	OMIM:604416
HP:0000001	All	7128	TNFAIP3	OMIM:616744
HP:0000001	All	4261	CIITA	OMIM:209920
HP:0000001	All	5994	RFXAP	OMIM:209920
HP:0000001	All	5993	RFX5	OMIM:209920
HP:0000001	All	8625	RFXANK	OMIM:209920
HP:0000001	All	6850	SYK	OMIM:619381
HP:0000001	All	23149	FCHO1	OMIM:619164
HP:0000001	All	60468	BACH2	OMIM:618394
HP:0000001	All	3587	IL10RA	OMIM:613148
HP:0000001	All	5294	PIK3CG	OMIM:619802
HP:0000001	All	338328	GPIHBP1	OMIM:615947
HP:0000001	All	7010	TEK	ORPHA:1059
HP:0000001	All	7010	TEK	OMIM:600195
HP:0000001	All	4665	NAB2	ORPHA:2126
HP:0000001	All	6778	STAT6	ORPHA:2126
HP:0000001	All	2130	EWSR1	ORPHA:83469
HP:0000001	All	7132	TNFRSF1A	ORPHA:32960
HP:0000001	All	79827	CLMP	OMIM:615237
HP:0000001	All	29928	TIMM22	OMIM:618851
HP:0000001	All	55107	ANO1	OMIM:620045
HP:0000001	All	5122	PCSK1	ORPHA:71528
HP:0000001	All	4160	MC4R	ORPHA:71529
HP:0000001	All	4160	MC4R	OMIM:618406
HP:0000001	All	5443	POMC	ORPHA:71526
HP:0000001	All	5443	POMC	OMIM:609734
HP:0000001	All	3952	LEP	ORPHA:66628
HP:0000001	All	3952	LEP	OMIM:614962
HP:0000001	All	506	ATP5F1B	OMIM:620085
HP:0000001	All	6524	SLC5A2	OMIM:233100
HP:0000001	All	5321	PLA2G4A	OMIM:618372
HP:0000001	All	9780	PIEZO1	OMIM:616843
HP:0000001	All	1604	CD55	OMIM:226300
HP:0000001	All	8462	KLF11	ORPHA:552
HP:0000001	All	26060	APPL1	ORPHA:552
HP:0000001	All	640	BLK	ORPHA:552
HP:0000001	All	1056	CEL	ORPHA:552
HP:0000001	All	4760	NEUROD1	ORPHA:552
HP:0000001	All	5078	PAX4	ORPHA:552
HP:0000001	All	222546	RFX6	OMIM:615710
HP:0000001	All	2158	F9	OMIM:300807
HP:0000001	All	84695	LOXL3	ORPHA:250984
HP:0000001	All	9368	NHERF1	OMIM:612287
HP:0000001	All	85446	ZFHX2	OMIM:147430
HP:0000001	All	5978	REST	ORPHA:654
HP:0000001	All	10155	TRIM28	ORPHA:654
HP:0000001	All	11281	POU6F2	ORPHA:654
HP:0000001	All	1565	CYP2D6	OMIM:608902
HP:0000001	All	256646	NUTM1	ORPHA:443167
HP:0000001	All	940	CD28	ORPHA:3162
HP:0000001	All	940	CD28	ORPHA:2584
HP:0000001	All	7133	TNFRSF1B	ORPHA:3162
HP:0000001	All	7133	TNFRSF1B	ORPHA:2584
HP:0000001	All	10519	CIB1	OMIM:618267
HP:0000001	All	11322	TMC6	OMIM:226400
HP:0000001	All	4913	NTHL1	OMIM:616415
HP:0000001	All	4913	NTHL1	ORPHA:454840
HP:0000001	All	9817	KEAP1	ORPHA:276399
HP:0000001	All	9940	DLEC1	ORPHA:99977
HP:0000001	All	79840	NHEJ1	ORPHA:169079
HP:0000001	All	3483	IGFALS	ORPHA:140941
HP:0000001	All	4092	SMAD7	OMIM:612229
HP:0000001	All	22947	DUX4L1	ORPHA:269
HP:0000001	All	100288687	DUX4	ORPHA:269
HP:0000001	All	9630	GNA14	ORPHA:1063
HP:0000001	All	4927	NUP88	ORPHA:994
HP:0000001	All	4967	OGDH	OMIM:203740
HP:0000001	All	92667	MGME1	ORPHA:352447
HP:0000001	All	92667	MGME1	OMIM:615084
HP:0000001	All	2859	GPR35	ORPHA:171
HP:0000001	All	10507	SEMA4D	ORPHA:171
HP:0000001	All	4485	MST1	ORPHA:171
HP:0000001	All	36	ACADSB	OMIM:610006
HP:0000001	All	205327	C2orf69	OMIM:619423
HP:0000001	All	91452	ACBD5	OMIM:618863
HP:0000001	All	80308	FLAD1	OMIM:255100
HP:0000001	All	7148	TNXB	ORPHA:230839
HP:0000001	All	7148	TNXB	OMIM:606408
HP:0000001	All	825	CAPN3	ORPHA:267
HP:0000001	All	825	CAPN3	OMIM:618129
HP:0000001	All	6444	SGCD	OMIM:601287
HP:0000001	All	84876	ORAI1	OMIM:612782
HP:0000001	All	84876	ORAI1	OMIM:615883
HP:0000001	All	9581	PREPL	OMIM:616224
HP:0000001	All	10367	MICU1	ORPHA:401768
HP:0000001	All	10367	MICU1	OMIM:615673
HP:0000001	All	5442	POLRMT	OMIM:619743
HP:0000001	All	844	CASQ1	OMIM:616231
HP:0000001	All	4632	MYL1	OMIM:618414
HP:0000001	All	113278	SLC52A3	OMIM:211530
HP:0000001	All	8622	PDE8B	ORPHA:189439
HP:0000001	All	50940	PDE11A	ORPHA:189439
HP:0000001	All	10290	SPEG	OMIM:615959
HP:0000001	All	1299	COL9A3	OMIM:600969
HP:0000001	All	79798	ARMC5	ORPHA:189427
HP:0000001	All	11149	BVES	OMIM:616812
HP:0000001	All	3991	LIPE	OMIM:615980
HP:0000001	All	126129	CPT1C	OMIM:616282
HP:0000001	All	84679	SLC9A7	OMIM:301024
HP:0000001	All	10616	RBCK1	OMIM:615895
HP:0000001	All	84892	POMGNT2	OMIM:618135
HP:0000001	All	4507	MTAP	OMIM:112250
HP:0000001	All	56244	BTNL2	ORPHA:797
HP:0000001	All	84265	POLR3GL	OMIM:619234
HP:0000001	All	55791	LRIF1	OMIM:619477
HP:0000001	All	64208	POPDC3	OMIM:618848
HP:0000001	All	81545	FBXO38	OMIM:615575
HP:0000001	All	6584	SLC22A5	OMIM:212140
HP:0000001	All	6566	SLC16A1	OMIM:245340
HP:0000001	All	5836	PYGL	ORPHA:369
HP:0000001	All	3703	STT3A	OMIM:619714
HP:0000001	All	3714	JAG2	OMIM:619566
HP:0000001	All	63924	CIDEC	ORPHA:435651
HP:0000001	All	2660	MSTN	OMIM:614160
HP:0000001	All	246243	RNASEH1	ORPHA:329336
HP:0000001	All	1134	CHRNA1	ORPHA:98913
HP:0000001	All	1145	CHRNE	ORPHA:98913
HP:0000001	All	5913	RAPSN	ORPHA:98913
HP:0000001	All	221264	AK9	ORPHA:98913
HP:0000001	All	285489	DOK7	ORPHA:98913
HP:0000001	All	2483	FRG1	OMIM:158900
HP:0000001	All	146862	UNC45B	OMIM:619178
HP:0000001	All	2548	GAA	OMIM:232300
HP:0000001	All	695	BTK	OMIM:300755
HP:0000001	All	695	BTK	OMIM:307200
HP:0000001	All	11232	POLG2	ORPHA:254892
HP:0000001	All	122622	ADSS1	ORPHA:482601
HP:0000001	All	1756	DMD	ORPHA:206546
HP:0000001	All	11155	LDB3	OMIM:609452
HP:0000001	All	4511	MT-TC	OMIM:540000
HP:0000001	All	112812	FDX2	OMIM:251900
HP:0000001	All	55154	MSTO1	ORPHA:502423
HP:0000001	All	50640	PNPLA8	OMIM:251950
HP:0000001	All	80324	PUS1	ORPHA:2598
HP:0000001	All	51067	YARS2	ORPHA:2598
HP:0000001	All	272	AMPD3	ORPHA:45
HP:0000001	All	34	ACADM	ORPHA:42
HP:0000001	All	3939	LDHA	ORPHA:284426
HP:0000001	All	37	ACADVL	OMIM:201475
HP:0000001	All	2318	FLNC	ORPHA:63273
HP:0000001	All	5837	PYGM	OMIM:232600
HP:0000001	All	5837	PYGM	ORPHA:368
HP:0000001	All	64419	MTMR14	ORPHA:169189
HP:0000001	All	4618	MYF6	ORPHA:169189
HP:0000001	All	5224	PGAM2	OMIM:261670
HP:0000001	All	90523	MLIP	OMIM:620138
HP:0000001	All	284439	SLC25A42	OMIM:618416
HP:0000001	All	23175	LPIN1	ORPHA:99845
HP:0000001	All	5230	PGK1	ORPHA:713
HP:0000001	All	4337	MOCS1	OMIM:252150
HP:0000001	All	221927	BRAT1	OMIM:614498
HP:0000001	All	4338	MOCS2	OMIM:252160
HP:0000001	All	6509	SLC1A4	ORPHA:447997
HP:0000001	All	6683	SPAST	OMIM:182601
HP:0000001	All	25814	ATXN10	OMIM:603516
HP:0000001	All	6314	ATXN7	OMIM:164500
HP:0000001	All	26277	TINF2	OMIM:268130
HP:0000001	All	6208	RPS14	OMIM:153550
HP:0000001	All	5156	PDGFRA	OMIM:607685
HP:0000001	All	4774	NFIA	OMIM:613735
HP:0000001	All	39	ACAT2	OMIM:614055
HP:0000001	All	7253	TSHR	OMIM:609152
HP:0000001	All	1816	DRD5	OMIM:606798
HP:0000001	All	4609	MYC	OMIM:113970
HP:0000001	All	7341	SUMO1	OMIM:613705
HP:0000001	All	6794	STK11	OMIM:273300
HP:0000001	All	8915	BCL10	OMIM:273300
HP:0000001	All	57502	NLGN4X	OMIM:300495
HP:0000001	All	4968	OGG1	OMIM:144700
HP:0000001	All	11236	RNF139	OMIM:144700
HP:0000001	All	55193	PBRM1	OMIM:144700
HP:0000001	All	6927	HNF1A	OMIM:144700
HP:0000001	All	7428	VHL	OMIM:144700
HP:0000001	All	4208	MEF2C	OMIM:613443
HP:0000001	All	2747	GLUD2	OMIM:168600
HP:0000001	All	126	ADH1C	OMIM:168600
HP:0000001	All	6908	TBP	OMIM:168600
HP:0000001	All	4576	MT-TT	OMIM:168600
HP:0000001	All	9627	SNCAIP	OMIM:168600
HP:0000001	All	23347	SMCHD1	OMIM:158901
HP:0000001	All	1763	DNA2	OMIM:615156
HP:0000001	All	57104	PNPLA2	ORPHA:98908
HP:0000001	All	5257	PHKB	ORPHA:79240
HP:0000001	All	6607	SMN2	OMIM:253400
HP:0000001	All	10049	DNAJB6	OMIM:603511
HP:0000001	All	5339	PLEC	ORPHA:254361
HP:0000001	All	54344	DPM3	ORPHA:263494
HP:0000001	All	6443	SGCB	ORPHA:119
HP:0000001	All	203859	ANO5	OMIM:611307
HP:0000001	All	9987	HNRNPDL	OMIM:609115
HP:0000001	All	270	AMPD1	OMIM:615511
HP:0000001	All	29958	DMGDH	ORPHA:243343
HP:0000001	All	29958	DMGDH	OMIM:605850
HP:0000001	All	866	SERPINA6	OMIM:611489
HP:0000001	All	6786	STIM1	OMIM:185070
HP:0000001	All	226	ALDOA	ORPHA:57
HP:0000001	All	6901	TAFAZZIN	OMIM:302060
HP:0000001	All	54345	SOX18	OMIM:137940
HP:0000001	All	256297	PTF1A	OMIM:609069
HP:0000001	All	5346	PLIN1	ORPHA:280356
HP:0000001	All	6514	SLC2A2	OMIM:227810
HP:0000001	All	51305	KCNK9	OMIM:612292
HP:0000001	All	7156	TOP3A	OMIM:618097
HP:0000001	All	3480	IGF1R	OMIM:270450
HP:0000001	All	54809	SAMD9	OMIM:610455
HP:0000001	All	846	CASR	OMIM:239200
HP:0000001	All	8312	AXIN1	OMIM:607864
HP:0000001	All	5138	PDE2A	OMIM:619150
HP:0000001	All	288	ANK3	OMIM:615493
HP:0000001	All	288	ANK3	ORPHA:356996
HP:0000001	All	23221	RHOBTB2	OMIM:618004
HP:0000001	All	3899	AFF3	OMIM:619297
HP:0000001	All	54517	PUS7	OMIM:618342
HP:0000001	All	3064	HTT	OMIM:617435
HP:0000001	All	10087	CERT1	OMIM:616351
HP:0000001	All	10533	ATG7	OMIM:619422
HP:0000001	All	10472	ZBTB18	OMIM:612337
HP:0000001	All	84628	NTNG2	OMIM:618718
HP:0000001	All	3861	KRT14	ORPHA:89838
HP:0000001	All	3008	H1-4	OMIM:617537
HP:0000001	All	1854	DUT	OMIM:620044
HP:0000001	All	1294	COL7A1	ORPHA:89842
HP:0000001	All	1019	CDK4	ORPHA:618
HP:0000001	All	4255	MGMT	ORPHA:618
HP:0000001	All	54386	TERF2IP	ORPHA:618
HP:0000001	All	65057	ACD	ORPHA:618
HP:0000001	All	25913	POT1	ORPHA:618
HP:0000001	All	1030	CDKN2B	ORPHA:618
HP:0000001	All	4791	NFKB2	ORPHA:293978
HP:0000001	All	4791	NFKB2	OMIM:615577
HP:0000001	All	57217	TTC7A	OMIM:243150
HP:0000001	All	57217	TTC7A	ORPHA:436252
HP:0000001	All	1493	CTLA4	OMIM:616100
HP:0000001	All	3107	HLA-C	OMIM:177900
HP:0000001	All	130340	AP1S3	OMIM:616106
HP:0000001	All	50943	FOXP3	ORPHA:37042
HP:0000001	All	64919	BCL11B	OMIM:617237
HP:0000001	All	26525	IL36RN	OMIM:614204
HP:0000001	All	5293	PIK3CD	ORPHA:221139
HP:0000001	All	90417	KNSTRN	ORPHA:221139
HP:0000001	All	3514	IGKC	ORPHA:183675
HP:0000001	All	3501	IGHG2	ORPHA:183675
HP:0000001	All	3106	HLA-B	OMIM:106300
HP:0000001	All	359948	IRF2BP2	OMIM:617765
HP:0000001	All	55315	SLC29A3	ORPHA:168569
HP:0000001	All	6307	MSMO1	OMIM:616834
HP:0000001	All	6868	ADAM17	ORPHA:294023
HP:0000001	All	1956	EGFR	ORPHA:294023
HP:0000001	All	10058	ABCB6	OMIM:609153
HP:0000001	All	2184	FAH	OMIM:276700
HP:0000001	All	3762	KCNJ5	ORPHA:37553
HP:0000001	All	1277	COL1A1	ORPHA:287
HP:0000001	All	1290	COL5A2	ORPHA:287
HP:0000001	All	2591	GALNT3	OMIM:211900
HP:0000001	All	2248	FGF3	ORPHA:2791
HP:0000001	All	1834	DSPP	OMIM:125420
HP:0000001	All	51726	DNAJB11	OMIM:618061
HP:0000001	All	51726	DNAJB11	ORPHA:730
HP:0000001	All	1497	CTNS	OMIM:219800
HP:0000001	All	1497	CTNS	OMIM:219900
HP:0000001	All	1497	CTNS	ORPHA:411634
HP:0000001	All	9722	NOS1AP	OMIM:619155
HP:0000001	All	4010	LMX1B	ORPHA:2614
HP:0000001	All	4010	LMX1B	OMIM:256020
HP:0000001	All	718	C3	OMIM:612925
HP:0000001	All	396	ARHGDIA	OMIM:615244
HP:0000001	All	396	ARHGDIA	ORPHA:656
HP:0000001	All	1184	CLCN5	OMIM:300009
HP:0000001	All	10677	AVIL	OMIM:618594
HP:0000001	All	84520	GON7	OMIM:619603
HP:0000001	All	8526	DGKE	OMIM:615008
HP:0000001	All	51473	DCDC2	OMIM:616217
HP:0000001	All	51473	DCDC2	ORPHA:84081
HP:0000001	All	977	CD151	OMIM:609057
HP:0000001	All	2542	SLC37A4	ORPHA:79259
HP:0000001	All	4868	NPHS1	ORPHA:656
HP:0000001	All	23607	CD2AP	ORPHA:656
HP:0000001	All	9688	NUP93	ORPHA:656
HP:0000001	All	9688	NUP93	OMIM:616892
HP:0000001	All	4643	MYO1E	ORPHA:656
HP:0000001	All	4643	MYO1E	OMIM:614131
HP:0000001	All	26130	GAPVD1	ORPHA:656
HP:0000001	All	51479	ANKFY1	ORPHA:656
HP:0000001	All	54443	ANLN	ORPHA:656
HP:0000001	All	54443	ANLN	OMIM:616032
HP:0000001	All	5800	PTPRO	ORPHA:656
HP:0000001	All	5800	PTPRO	OMIM:614196
HP:0000001	All	286204	CRB2	ORPHA:656
HP:0000001	All	23165	NUP205	ORPHA:656
HP:0000001	All	23165	NUP205	OMIM:616893
HP:0000001	All	2013	EMP2	ORPHA:656
HP:0000001	All	79023	NUP37	ORPHA:656
HP:0000001	All	51196	PLCE1	ORPHA:656
HP:0000001	All	51196	PLCE1	OMIM:610725
HP:0000001	All	79902	NUP85	ORPHA:656
HP:0000001	All	79902	NUP85	OMIM:618176
HP:0000001	All	79934	COQ8B	ORPHA:656
HP:0000001	All	79934	COQ8B	OMIM:615573
HP:0000001	All	23279	NUP160	ORPHA:656
HP:0000001	All	9863	MAGI2	ORPHA:656
HP:0000001	All	9863	MAGI2	OMIM:617609
HP:0000001	All	81	ACTN4	ORPHA:656
HP:0000001	All	81	ACTN4	OMIM:603278
HP:0000001	All	7225	TRPC6	ORPHA:656
HP:0000001	All	7225	TRPC6	OMIM:603965
HP:0000001	All	8542	APOL1	ORPHA:656
HP:0000001	All	8542	APOL1	OMIM:612551
HP:0000001	All	54885	TBC1D8B	ORPHA:656
HP:0000001	All	54885	TBC1D8B	OMIM:301028
HP:0000001	All	7827	NPHS2	ORPHA:656
HP:0000001	All	7827	NPHS2	OMIM:600995
HP:0000001	All	83478	ARHGAP24	ORPHA:656
HP:0000001	All	23500	DAAM2	ORPHA:656
HP:0000001	All	23193	GANAB	ORPHA:730
HP:0000001	All	5310	PKD1	ORPHA:730
HP:0000001	All	5311	PKD2	ORPHA:730
HP:0000001	All	5311	PKD2	OMIM:613095
HP:0000001	All	29880	ALG5	ORPHA:730
HP:0000001	All	29880	ALG5	OMIM:620056
HP:0000001	All	80114	BICC1	ORPHA:730
HP:0000001	All	23005	MAPKBP1	OMIM:617271
HP:0000001	All	3911	LAMA5	OMIM:620049
HP:0000001	All	26146	TRAF3IP1	OMIM:616629
HP:0000001	All	26146	TRAF3IP1	ORPHA:3156
HP:0000001	All	4594	MMUT	OMIM:251000
HP:0000001	All	25778	DSTYK	OMIM:610805
HP:0000001	All	9056	SLC7A7	OMIM:222700
HP:0000001	All	27031	NPHP3	OMIM:267010
HP:0000001	All	27031	NPHP3	OMIM:604387
HP:0000001	All	27031	NPHP3	OMIM:208540
HP:0000001	All	27031	NPHP3	ORPHA:3156
HP:0000001	All	203286	ANKS6	OMIM:615382
HP:0000001	All	254428	SLC41A1	OMIM:619468
HP:0000001	All	149461	CLDN19	OMIM:248190
HP:0000001	All	4582	MUC1	OMIM:174000
HP:0000001	All	27130	INVS	OMIM:602088
HP:0000001	All	27130	INVS	ORPHA:3156
HP:0000001	All	7809	BSND	ORPHA:89938
HP:0000001	All	1188	CLCNKB	ORPHA:89938
HP:0000001	All	1187	CLCNKA	ORPHA:89938
HP:0000001	All	10269	ZMPSTE24	OMIM:608612
HP:0000001	All	8879	SGPL1	OMIM:617575
HP:0000001	All	975	CD81	OMIM:613496
HP:0000001	All	1286	COL4A4	OMIM:203780
HP:0000001	All	199221	DZIP1L	OMIM:617610
HP:0000001	All	199221	DZIP1L	ORPHA:731
HP:0000001	All	5580	PRKCD	OMIM:615559
HP:0000001	All	54796	BNC2	ORPHA:93110
HP:0000001	All	2335	FN1	OMIM:601894
HP:0000001	All	100147744	RNU7-1	OMIM:619487
HP:0000001	All	50485	SMARCAL1	ORPHA:1830
HP:0000001	All	50485	SMARCAL1	OMIM:242900
HP:0000001	All	10253	SPRY2	OMIM:616818
HP:0000001	All	284086	NEK8	OMIM:613824
HP:0000001	All	93649	MYOCD	OMIM:618719
HP:0000001	All	353	APRT	ORPHA:976
HP:0000001	All	1962	EHHADH	ORPHA:3337
HP:0000001	All	2628	GATM	ORPHA:3337
HP:0000001	All	6569	SLC34A1	ORPHA:3337
HP:0000001	All	63929	XPNPEP3	OMIM:613159
HP:0000001	All	84662	GLIS2	OMIM:611498
HP:0000001	All	64127	NOD2	ORPHA:90340
HP:0000001	All	81494	CFHR5	OMIM:614809
HP:0000001	All	51004	COQ6	OMIM:614650
HP:0000001	All	51134	CEP83	OMIM:615862
HP:0000001	All	22897	CEP164	ORPHA:3156
HP:0000001	All	22909	FAN1	OMIM:614817
HP:0000001	All	1288	COL4A6	ORPHA:1018
HP:0000001	All	6768	ST14	OMIM:602400
HP:0000001	All	147409	DSG4	OMIM:607903
HP:0000001	All	2068	ERCC2	OMIM:601675
HP:0000001	All	617	BCS1L	OMIM:262000
HP:0000001	All	81607	NECTIN4	OMIM:613573
HP:0000001	All	5818	NECTIN1	ORPHA:3253
HP:0000001	All	7486	WRN	ORPHA:902
HP:0000001	All	3891	KRT85	OMIM:602032
HP:0000001	All	5332	PLCB4	OMIM:614669
HP:0000001	All	4784	NFIX	OMIM:602535
HP:0000001	All	5860	QDPR	OMIM:261630
HP:0000001	All	2290	FOXG1	ORPHA:261144
HP:0000001	All	57468	SLC12A5	OMIM:616645
HP:0000001	All	81848	SPRY4	ORPHA:432
HP:0000001	All	128674	PROKR2	ORPHA:432
HP:0000001	All	60675	PROK2	ORPHA:432
HP:0000001	All	6870	TACR3	ORPHA:432
HP:0000001	All	1848	DUSP6	ORPHA:432
HP:0000001	All	26012	NSMF	ORPHA:432
HP:0000001	All	9394	HS6ST1	ORPHA:432
HP:0000001	All	2796	GNRH1	ORPHA:432
HP:0000001	All	2798	GNRHR	ORPHA:432
HP:0000001	All	84634	KISS1R	ORPHA:432
HP:0000001	All	6866	TAC3	ORPHA:432
HP:0000001	All	8822	FGF17	ORPHA:432
HP:0000001	All	3814	KISS1	ORPHA:432
HP:0000001	All	3730	ANOS1	OMIM:308700
HP:0000001	All	2100	ESR2	OMIM:618187
HP:0000001	All	1588	CYP19A1	ORPHA:91
HP:0000001	All	64175	P3H1	OMIM:610915
HP:0000001	All	4929	NR4A2	ORPHA:98808
HP:0000001	All	4929	NR4A2	OMIM:619911
HP:0000001	All	3615	IMPDH2	ORPHA:98808
HP:0000001	All	7054	TH	OMIM:605407
HP:0000001	All	7054	TH	ORPHA:101150
HP:0000001	All	55163	PNPO	ORPHA:79096
HP:0000001	All	55163	PNPO	OMIM:610090
HP:0000001	All	1644	DDC	OMIM:608643
HP:0000001	All	9256	TSPOAP1	ORPHA:101150
HP:0000001	All	57190	SELENON	OMIM:602771
HP:0000001	All	8087	FXR1	OMIM:618823
HP:0000001	All	1073	CFL2	OMIM:610687
HP:0000001	All	9325	TRIP4	ORPHA:486815
HP:0000001	All	3417	IDH1	ORPHA:99646
HP:0000001	All	1716	DGUOK	ORPHA:329314
HP:0000001	All	2218	FKTN	ORPHA:370980
HP:0000001	All	6442	SGCA	OMIM:608099
HP:0000001	All	339855	KY	OMIM:617114
HP:0000001	All	79912	PYROXD1	OMIM:617258
HP:0000001	All	84700	MYO18B	OMIM:616549
HP:0000001	All	7138	TNNT1	OMIM:605355
HP:0000001	All	23676	SMPX	OMIM:301075
HP:0000001	All	439	GET3	OMIM:620203
HP:0000001	All	55278	QRSL1	OMIM:618835
HP:0000001	All	23396	PIP5K1C	OMIM:611369
HP:0000001	All	283459	GATC	OMIM:618839
HP:0000001	All	442721	LMOD2	OMIM:619897
HP:0000001	All	3655	ITGA6	OMIM:619817
HP:0000001	All	29969	MDFIC	OMIM:620014
HP:0000001	All	2243	FGA	OMIM:202400
HP:0000001	All	2244	FGB	OMIM:202400
HP:0000001	All	2266	FGG	OMIM:202400
HP:0000001	All	8647	ABCB11	OMIM:601847
HP:0000001	All	5788	PTPRC	OMIM:619924
HP:0000001	All	917	CD3G	OMIM:615607
HP:0000001	All	57158	JPH2	OMIM:619492
HP:0000001	All	4938	OAS1	OMIM:618042
HP:0000001	All	27040	LAT	OMIM:617514
HP:0000001	All	10203	CALCRL	OMIM:618773
HP:0000001	All	4171	MCM2	OMIM:616968
HP:0000001	All	26011	TENM4	OMIM:616736
HP:0000001	All	7450	VWF	OMIM:613554
HP:0000001	All	916	CD3E	OMIM:615615
HP:0000001	All	5308	PITX2	OMIM:180500
HP:0000001	All	55765	INAVA	OMIM:618077
HP:0000001	All	78987	CRELD1	OMIM:606217
HP:0000001	All	51428	DDX41	OMIM:616871
HP:0000001	All	90268	OTULIN	OMIM:619986
HP:0000001	All	4233	MET	OMIM:605074
HP:0000001	All	5546	PRCC	OMIM:605074
HP:0000001	All	8204	NRIP1	OMIM:618270
HP:0000001	All	91662	NLRP12	OMIM:611762
HP:0000001	All	10137	RBM12	OMIM:617629
HP:0000001	All	4093	SMAD9	OMIM:615342
HP:0000001	All	8074	FGF23	OMIM:193100
HP:0000001	All	22873	DZIP1	OMIM:610840
HP:0000001	All	6137	RPL13	OMIM:618728
HP:0000001	All	5251	PHEX	ORPHA:89936
HP:0000001	All	90993	CREB3L1	OMIM:616229
HP:0000001	All	26175	LYSET	OMIM:619345
HP:0000001	All	145264	SERPINA12	ORPHA:86923
HP:0000001	All	151254	C2CD6	OMIM:619805
HP:0000001	All	7153	TOP2A	ORPHA:635
HP:0000001	All	238	ALK	ORPHA:635
HP:0000001	All	389421	LIN28B	ORPHA:635
HP:0000001	All	4004	LMO1	ORPHA:635
HP:0000001	All	64780	MICAL1	OMIM:600512
HP:0000001	All	51083	GAL	OMIM:616461
HP:0000001	All	168507	PKD1L1	OMIM:617205
HP:0000001	All	93	ACVR2B	OMIM:613751
HP:0000001	All	220136	CFAP53	OMIM:614779
HP:0000001	All	100128908	CIROP	OMIM:619702
HP:0000001	All	7512	XPNPEP2	ORPHA:100057
HP:0000001	All	30009	TBX21	OMIM:208550
HP:0000001	All	5732	PTGER2	OMIM:208550
HP:0000001	All	611	OPN1SW	ORPHA:88629
HP:0000001	All	26504	CNNM4	OMIM:217080
HP:0000001	All	90167	FRMD7	OMIM:310700
HP:0000001	All	23268	DNMBP	OMIM:618415
HP:0000001	All	8218	CLTCL1	ORPHA:453510
HP:0000001	All	22999	RIMS1	OMIM:603649
HP:0000001	All	5322	PLA2G5	OMIM:228980
HP:0000001	All	2916	GRM6	OMIM:257270
HP:0000001	All	60506	NYX	OMIM:310500
HP:0000001	All	1576	CYP3A4	OMIM:619073
HP:0000001	All	57105	CYSLTR2	ORPHA:39044
HP:0000001	All	5429	POLH	OMIM:278750
HP:0000001	All	4909	NTF4	OMIM:613100
HP:0000001	All	134430	WDR36	OMIM:609887
HP:0000001	All	5892	RAD51D	ORPHA:145
HP:0000001	All	3553	IL1B	OMIM:613659
HP:0000001	All	51311	TLR8	OMIM:301078
HP:0000001	All	345	APOC3	ORPHA:79506
HP:0000001	All	345	APOC3	OMIM:614028
HP:0000001	All	330	BIRC3	ORPHA:52417
HP:0000001	All	4773	NFATC2	OMIM:620232
HP:0000001	All	23499	MACF1	ORPHA:572013
HP:0000001	All	387119	CEP85L	ORPHA:572013
HP:0000001	All	2554	GABRA1	ORPHA:33069
HP:0000001	All	6324	SCN1B	ORPHA:33069
HP:0000001	All	57526	PCDH19	ORPHA:33069
HP:0000001	All	2566	GABRG2	ORPHA:33069
HP:0000001	All	23030	KDM4B	OMIM:619320
HP:0000001	All	7846	TUBA1A	ORPHA:171680
HP:0000001	All	347733	TUBB2B	ORPHA:300573
HP:0000001	All	203068	TUBB	OMIM:615771
HP:0000001	All	55252	ASXL2	OMIM:617190
HP:0000001	All	2475	MTOR	ORPHA:457485
HP:0000001	All	2050	EPHB4	ORPHA:137667
HP:0000001	All	2050	EPHB4	OMIM:618196
HP:0000001	All	5921	RASA1	ORPHA:137667
HP:0000001	All	5921	RASA1	ORPHA:90307
HP:0000001	All	5921	RASA1	OMIM:608354
HP:0000001	All	440275	EIF2AK4	ORPHA:199241
HP:0000001	All	5313	PKLR	OMIM:266200
HP:0000001	All	5313	PKLR	ORPHA:766
HP:0000001	All	56947	MFF	ORPHA:485421
HP:0000001	All	26053	AUTS2	OMIM:615834
HP:0000001	All	26053	AUTS2	ORPHA:352490
HP:0000001	All	242	ALOX12B	OMIM:242100
HP:0000001	All	59344	ALOXE3	OMIM:242100
HP:0000001	All	4014	LORICRIN	OMIM:604117
HP:0000001	All	4014	LORICRIN	ORPHA:79395
HP:0000001	All	204219	CERS3	OMIM:615023
HP:0000001	All	285848	PNPLA1	OMIM:615024
HP:0000001	All	121214	SDR9C7	OMIM:617574
HP:0000001	All	79092	CARD14	OMIM:173200
HP:0000001	All	8710	SERPINB7	OMIM:615598
HP:0000001	All	3868	KRT16	ORPHA:2199
HP:0000001	All	3857	KRT9	ORPHA:2199
HP:0000001	All	3848	KRT1	ORPHA:2199
HP:0000001	All	488	ATP2A2	ORPHA:79151
HP:0000001	All	643418	LIPN	OMIM:613943
HP:0000001	All	1828	DSG1	OMIM:615508
HP:0000001	All	1828	DSG1	OMIM:148700
HP:0000001	All	80326	WNT10A	OMIM:257980
HP:0000001	All	79719	AAGAB	OMIM:148600
HP:0000001	All	79719	AAGAB	ORPHA:79501
HP:0000001	All	7373	COL14A1	ORPHA:79501
HP:0000001	All	64131	XYLT1	OMIM:264800
HP:0000001	All	699	BUB1	OMIM:620183
HP:0000001	All	10128	LRPPRC	OMIM:220111
HP:0000001	All	11212	PLPBP	OMIM:617290
HP:0000001	All	11212	PLPBP	ORPHA:3006
HP:0000001	All	54539	NDUFB11	ORPHA:2609
HP:0000001	All	25915	NDUFAF3	ORPHA:2609
HP:0000001	All	51103	NDUFAF1	ORPHA:2609
HP:0000001	All	91942	NDUFAF2	ORPHA:2609
HP:0000001	All	51300	TIMMDC1	ORPHA:2609
HP:0000001	All	4716	NDUFB10	ORPHA:2609
HP:0000001	All	4723	NDUFV1	ORPHA:2609
HP:0000001	All	55572	FOXRED1	ORPHA:2609
HP:0000001	All	284184	NDUFAF8	ORPHA:2609
HP:0000001	All	55863	TMEM126B	ORPHA:2609
HP:0000001	All	4729	NDUFV2	ORPHA:2609
HP:0000001	All	4694	NDUFA1	ORPHA:2609
HP:0000001	All	4720	NDUFS2	ORPHA:2609
HP:0000001	All	4724	NDUFS4	ORPHA:2609
HP:0000001	All	4726	NDUFS6	ORPHA:2609
HP:0000001	All	4728	NDUFS8	ORPHA:2609
HP:0000001	All	4722	NDUFS3	ORPHA:2609
HP:0000001	All	79133	NDUFAF5	ORPHA:2609
HP:0000001	All	126328	NDUFA11	ORPHA:2609
HP:0000001	All	4709	NDUFB3	ORPHA:2609
HP:0000001	All	80224	NUBPL	ORPHA:2609
HP:0000001	All	29078	NDUFAF4	ORPHA:2609
HP:0000001	All	374291	NDUFS7	ORPHA:2609
HP:0000001	All	4700	NDUFA6	ORPHA:2609
HP:0000001	All	4719	NDUFS1	ORPHA:2609
HP:0000001	All	4715	NDUFB9	ORPHA:2609
HP:0000001	All	10664	CTCF	ORPHA:363611
HP:0000001	All	79989	IFT56	OMIM:619534
HP:0000001	All	2334	AFF2	OMIM:309548
HP:0000001	All	10526	IPO8	OMIM:619472
HP:0000001	All	6651	SON	ORPHA:500150
HP:0000001	All	5167	ENPP1	ORPHA:51608
HP:0000001	All	5167	ENPP1	OMIM:208000
HP:0000001	All	368	ABCC6	ORPHA:51608
HP:0000001	All	28962	OSTM1	ORPHA:85179
HP:0000001	All	4705	NDUFA10	OMIM:618243
HP:0000001	All	11274	USP18	OMIM:617397
HP:0000001	All	6135	RPL11	OMIM:612562
HP:0000001	All	5828	PEX2	OMIM:614866
HP:0000001	All	1788	DNMT3A	OMIM:615879
HP:0000001	All	9570	GOSR2	OMIM:620166
HP:0000001	All	501	ALDH7A1	ORPHA:3006
HP:0000001	All	501	ALDH7A1	OMIM:266100
HP:0000001	All	5205	ATP8B1	OMIM:147480
HP:0000001	All	284361	EMC10	OMIM:619264
HP:0000001	All	5244	ABCB4	OMIM:614972
HP:0000001	All	56479	KCNQ5	OMIM:617601
HP:0000001	All	10320	IKZF1	OMIM:616873
HP:0000001	All	3557	IL1RN	OMIM:612852
HP:0000001	All	55210	ATAD3A	OMIM:618810
HP:0000001	All	5826	ABCD4	OMIM:614857
HP:0000001	All	8905	AP1S2	OMIM:304340
HP:0000001	All	1528	CYB5A	ORPHA:621
HP:0000001	All	1727	CYB5R3	ORPHA:621
HP:0000001	All	8792	TNFRSF11A	OMIM:174810
HP:0000001	All	545	ATR	OMIM:614564
HP:0000001	All	7508	XPC	OMIM:278720
HP:0000001	All	4072	EPCAM	ORPHA:92050
HP:0000001	All	105371045	PERCC1	ORPHA:92050
HP:0000001	All	3938	LCT	OMIM:223000
HP:0000001	All	4175	MCM6	OMIM:223100
HP:0000001	All	6399	TRAPPC2	ORPHA:93284
HP:0000001	All	5696	PSMB8	OMIM:256040
HP:0000001	All	5692	PSMB4	OMIM:617591
HP:0000001	All	5698	PSMB9	OMIM:617591
HP:0000001	All	4952	OCRL	OMIM:309000
HP:0000001	All	367	AR	ORPHA:90797
HP:0000001	All	54766	BTG4	OMIM:619009
HP:0000001	All	2099	ESR1	OMIM:615363
HP:0000001	All	84133	ZNRF3	ORPHA:1501
HP:0000001	All	7157	TP53	ORPHA:1501
HP:0000001	All	1499	CTNNB1	ORPHA:1501
HP:0000001	All	1029	CDKN2A	ORPHA:1501
HP:0000001	All	7015	TERT	ORPHA:1501
HP:0000001	All	171023	ASXL1	ORPHA:98850
HP:0000001	All	54790	TET2	ORPHA:98850
HP:0000001	All	54790	TET2	ORPHA:824
HP:0000001	All	867	CBL	ORPHA:98850
HP:0000001	All	861	RUNX1	ORPHA:98850
HP:0000001	All	6427	SRSF2	ORPHA:98850
HP:0000001	All	811	CALR	ORPHA:824
HP:0000001	All	4352	MPL	ORPHA:824
HP:0000001	All	3717	JAK2	ORPHA:824
HP:0000001	All	8314	BAP1	ORPHA:50251
HP:0000001	All	84868	HAVCR2	ORPHA:86884
HP:0000001	All	4598	MVK	OMIM:260920
HP:0000001	All	5314	PKHD1	ORPHA:53035
HP:0000001	All	2038	EPB42	ORPHA:822
HP:0000001	All	6521	SLC4A1	ORPHA:822
HP:0000001	All	6710	SPTB	ORPHA:822
HP:0000001	All	6710	SPTB	ORPHA:288
HP:0000001	All	6708	SPTA1	ORPHA:822
HP:0000001	All	6708	SPTA1	ORPHA:288
HP:0000001	All	286	ANK1	ORPHA:822
HP:0000001	All	2035	EPB41	ORPHA:288
HP:0000001	All	2995	GYPC	ORPHA:288
HP:0000001	All	114548	NLRP3	OMIM:120100
HP:0000001	All	7187	TRAF3	ORPHA:1930
HP:0000001	All	81622	UNC93B1	ORPHA:1930
HP:0000001	All	148022	TICAM1	ORPHA:1930
HP:0000001	All	7098	TLR3	ORPHA:1930
HP:0000001	All	29110	TBK1	ORPHA:1930
HP:0000001	All	1135	CHRNA2	OMIM:610353
HP:0000001	All	3032	HADHB	ORPHA:746
HP:0000001	All	3030	HADHA	ORPHA:746
HP:0000001	All	157657	CFAP418	OMIM:614500
HP:0000001	All	5961	PRPH2	OMIM:169150
HP:0000001	All	6499	SKIC2	ORPHA:84064
HP:0000001	All	23729	SHPK	OMIM:617213
HP:0000001	All	57670	KIAA1549	OMIM:618613
HP:0000001	All	83723	TLCD3B	OMIM:619531
HP:0000001	All	4692	NDN	ORPHA:177904
HP:0000001	All	4692	NDN	ORPHA:177901
HP:0000001	All	4692	NDN	ORPHA:98754
HP:0000001	All	7874	USP7	ORPHA:500055
HP:0000001	All	10524	KAT5	OMIM:619103
HP:0000001	All	1182	CLCN3	OMIM:619512
HP:0000001	All	51319	RSRC1	OMIM:618402
HP:0000001	All	6334	SCN8A	OMIM:614306
HP:0000001	All	340665	CYP26C1	ORPHA:398189
HP:0000001	All	57538	ALPK3	OMIM:618052
HP:0000001	All	171019	ADAMTS19	OMIM:620067
HP:0000001	All	6445	SGCG	ORPHA:353
HP:0000001	All	282996	RBM20	OMIM:613172
HP:0000001	All	6533	SLC6A6	OMIM:145350
HP:0000001	All	10060	ABCC9	OMIM:619719
HP:0000001	All	6440	SFTPC	ORPHA:2032
HP:0000001	All	729238	SFTPA2	ORPHA:2032
HP:0000001	All	79991	STN1	ORPHA:2032
HP:0000001	All	653509	SFTPA1	ORPHA:2032
HP:0000001	All	21	ABCA3	ORPHA:2032
HP:0000001	All	21	ABCA3	OMIM:610921
HP:0000001	All	727897	MUC5B	ORPHA:2032
HP:0000001	All	10144	FAM13A	ORPHA:2032
HP:0000001	All	23250	ATP11A	ORPHA:2032
HP:0000001	All	91039	DPP9	ORPHA:2032
HP:0000001	All	51750	RTEL1	ORPHA:2032
HP:0000001	All	7012	TERC	ORPHA:2032
HP:0000001	All	5073	PARN	ORPHA:2032
HP:0000001	All	5073	PARN	OMIM:616371
HP:0000001	All	25981	DNAH1	ORPHA:244
HP:0000001	All	115948	ODAD3	ORPHA:244
HP:0000001	All	54768	HYDIN	ORPHA:244
HP:0000001	All	352909	DNAAF3	ORPHA:244
HP:0000001	All	27148	STK36	ORPHA:244
HP:0000001	All	51314	NME8	ORPHA:244
HP:0000001	All	92749	DRC1	ORPHA:244
HP:0000001	All	54970	TTC12	ORPHA:244
HP:0000001	All	152110	NEK10	ORPHA:244
HP:0000001	All	2302	FOXJ1	ORPHA:244
HP:0000001	All	221421	RSPH9	ORPHA:244
HP:0000001	All	85478	CCDC65	ORPHA:244
HP:0000001	All	55036	CCDC40	ORPHA:244
HP:0000001	All	51364	ZMYND10	ORPHA:244
HP:0000001	All	64446	DNAI2	ORPHA:244
HP:0000001	All	6674	SPAG1	ORPHA:244
HP:0000001	All	83544	DNAL1	ORPHA:244
HP:0000001	All	89765	RSPH1	ORPHA:244
HP:0000001	All	83538	ODAD4	ORPHA:244
HP:0000001	All	200373	CFAP221	ORPHA:244
HP:0000001	All	374407	DNAJB13	ORPHA:244
HP:0000001	All	55172	DNAAF2	ORPHA:244
HP:0000001	All	161582	DNAAF4	ORPHA:244
HP:0000001	All	2622	GAS8	ORPHA:244
HP:0000001	All	23639	DNAAF11	ORPHA:244
HP:0000001	All	27019	DNAI1	ORPHA:244
HP:0000001	All	345895	RSPH4A	ORPHA:244
HP:0000001	All	54919	DNAAF5	ORPHA:244
HP:0000001	All	388389	CCDC103	ORPHA:244
HP:0000001	All	93233	ODAD1	ORPHA:244
HP:0000001	All	55130	ODAD2	ORPHA:244
HP:0000001	All	1767	DNAH5	ORPHA:244
HP:0000001	All	83861	RSPH3	ORPHA:244
HP:0000001	All	345643	MCIDAS	ORPHA:244
HP:0000001	All	56683	CFAP298	ORPHA:244
HP:0000001	All	79925	SPEF2	ORPHA:244
HP:0000001	All	10309	CCNO	ORPHA:244
HP:0000001	All	115399	LRRC56	ORPHA:244
HP:0000001	All	139212	DNAAF6	ORPHA:244
HP:0000001	All	123872	DNAAF1	ORPHA:244
HP:0000001	All	85016	CFAP300	ORPHA:244
HP:0000001	All	339829	CCDC39	ORPHA:244
HP:0000001	All	8701	DNAH11	ORPHA:244
HP:0000001	All	1770	DNAH9	ORPHA:244
HP:0000001	All	246176	GAS2L2	ORPHA:244
HP:0000001	All	6439	SFTPB	OMIM:265120
HP:0000001	All	3115	HLA-DPB1	ORPHA:133
HP:0000001	All	1438	CSF2RA	OMIM:300770
HP:0000001	All	1439	CSF2RB	OMIM:614370
HP:0000001	All	10568	SLC34A2	ORPHA:60025
HP:0000001	All	10551	AGR2	OMIM:620233
HP:0000001	All	7080	NKX2-1	OMIM:610978
HP:0000001	All	659	BMPR2	OMIM:265450
HP:0000001	All	80232	WDR26	OMIM:617616
HP:0000001	All	80232	WDR26	ORPHA:513456
HP:0000001	All	10625	IVNS1ABP	OMIM:618969
HP:0000001	All	3932	LCK	OMIM:615758
HP:0000001	All	149371	EXOC8	OMIM:619076
HP:0000001	All	55275	VPS53	OMIM:615851
HP:0000001	All	3778	KCNMA1	OMIM:609446
HP:0000001	All	51075	TMX2	OMIM:618730
HP:0000001	All	84274	COQ5	OMIM:619028
HP:0000001	All	5833	PCYT2	OMIM:618770
HP:0000001	All	3658	IREB2	OMIM:618451
HP:0000001	All	283989	TSEN54	ORPHA:2524
HP:0000001	All	116461	TSEN15	ORPHA:2524
HP:0000001	All	79042	TSEN34	ORPHA:2524
HP:0000001	All	80746	TSEN2	ORPHA:2524
HP:0000001	All	51091	SEPSECS	ORPHA:2524
HP:0000001	All	23031	MAST3	OMIM:620115
HP:0000001	All	2558	GABRA5	OMIM:618559
HP:0000001	All	5813	PURA	ORPHA:314655
HP:0000001	All	8425	LTBP4	OMIM:613177
HP:0000001	All	6231	RPS26	OMIM:613309
HP:0000001	All	6598	SMARCB1	OMIM:614608
HP:0000001	All	9493	KIF23	ORPHA:98870
HP:0000001	All	29127	RACGAP1	ORPHA:98870
HP:0000001	All	5825	ABCD3	OMIM:616278
HP:0000001	All	1137	CHRNA4	ORPHA:98784
HP:0000001	All	57010	CABP4	ORPHA:98784
HP:0000001	All	1141	CHRNB2	ORPHA:98784
HP:0000001	All	1392	CRH	ORPHA:98784
HP:0000001	All	1298	COL9A2	OMIM:600204
HP:0000001	All	3872	KRT17	ORPHA:2309
HP:0000001	All	3853	KRT6A	ORPHA:2309
HP:0000001	All	3854	KRT6B	ORPHA:2309
HP:0000001	All	4035	LRP1	OMIM:604093
HP:0000001	All	10161	LPAR6	OMIM:278150
HP:0000001	All	200879	LIPH	OMIM:604379
HP:0000001	All	1906	EDN1	ORPHA:137888
HP:0000001	All	2773	GNAI3	ORPHA:137888
HP:0000001	All	2773	GNAI3	OMIM:602483
HP:0000001	All	1107	CHD3	OMIM:618205
HP:0000001	All	25792	CIZ1	ORPHA:420492
HP:0000001	All	22854	NTNG1	ORPHA:3095
HP:0000001	All	1813	DRD2	ORPHA:36899
HP:0000001	All	8910	SGCE	ORPHA:36899
HP:0000001	All	8910	SGCE	OMIM:159900
HP:0000001	All	79734	KCTD17	ORPHA:36899
HP:0000001	All	1743	DLST	ORPHA:29072
HP:0000001	All	8402	SLC25A11	ORPHA:29072
HP:0000001	All	54949	SDHAF2	ORPHA:29072
HP:0000001	All	55654	TMEM127	ORPHA:29072
HP:0000001	All	4149	MAX	ORPHA:29072
HP:0000001	All	11315	PARK7	ORPHA:2828
HP:0000001	All	120892	LRRK2	ORPHA:2828
HP:0000001	All	6622	SNCA	ORPHA:2828
HP:0000001	All	65018	PINK1	ORPHA:2828
HP:0000001	All	5071	PRKN	ORPHA:2828
HP:0000001	All	3781	KCNN2	OMIM:619725
HP:0000001	All	2034	EPAS1	ORPHA:276621
HP:0000001	All	79651	RHBDF2	ORPHA:2198
HP:0000001	All	4437	MSH3	ORPHA:480536
HP:0000001	All	51284	TLR7	OMIM:301080
HP:0000001	All	285282	RABL3	ORPHA:1333
HP:0000001	All	23022	PALLD	ORPHA:1333
HP:0000001	All	462	SERPINC1	OMIM:613118
HP:0000001	All	4907	NT5E	ORPHA:289601
HP:0000001	All	2159	F10	ORPHA:328
HP:0000001	All	710	SERPING1	ORPHA:100050
HP:0000001	All	50674	NEUROG3	ORPHA:83620
HP:0000001	All	3490	IGFBP7	OMIM:614224
HP:0000001	All	58495	OVOL2	OMIM:122000
HP:0000001	All	58495	OVOL2	ORPHA:98973
HP:0000001	All	27151	CPAMD8	OMIM:617319
HP:0000001	All	30813	VSX1	ORPHA:98973
HP:0000001	All	79977	GRHL2	ORPHA:98973
HP:0000001	All	7068	THRB	OMIM:274300
HP:0000001	All	1584	CYP11B1	OMIM:202010
HP:0000001	All	1584	CYP11B1	ORPHA:90795
HP:0000001	All	6006	RHCE	ORPHA:71275
HP:0000001	All	3945	LDHB	OMIM:614128
HP:0000001	All	9015	TAF1A	ORPHA:154
HP:0000001	All	7112	TMPO	ORPHA:154
HP:0000001	All	9464	HAND2	ORPHA:154
HP:0000001	All	10486	CAP2	ORPHA:154
HP:0000001	All	27063	ANKRD1	ORPHA:154
HP:0000001	All	2274	FHL2	ORPHA:154
HP:0000001	All	57623	ZFAT	OMIM:608175
HP:0000001	All	5915	RARB	ORPHA:2470
HP:0000001	All	3651	PDX1	OMIM:260370
HP:0000001	All	3561	IL2RG	ORPHA:276
HP:0000001	All	3561	IL2RG	ORPHA:39041
HP:0000001	All	5880	RAC2	OMIM:618986
HP:0000001	All	939	CD27	OMIM:615122
HP:0000001	All	3162	HMOX1	OMIM:614034
HP:0000001	All	10525	HYOU1	OMIM:233600
HP:0000001	All	65082	VPS33A	OMIM:617303
HP:0000001	All	65082	VPS33A	ORPHA:505248
HP:0000001	All	1536	CYBB	ORPHA:379
HP:0000001	All	4688	NCF2	ORPHA:379
HP:0000001	All	1535	CYBA	ORPHA:379
HP:0000001	All	4689	NCF4	ORPHA:379
HP:0000001	All	79415	CYBC1	ORPHA:379
HP:0000001	All	1991	ELANE	ORPHA:2686
HP:0000001	All	7037	TFRC	OMIM:616740
HP:0000001	All	50619	DEF6	OMIM:619573
HP:0000001	All	92579	G6PC3	OMIM:612541
HP:0000001	All	130589	GALM	ORPHA:570422
HP:0000001	All	7852	CXCR4	ORPHA:51636
HP:0000001	All	151516	ASPRV1	ORPHA:313
HP:0000001	All	126410	CYP4F22	ORPHA:313
HP:0000001	All	6820	SULT2B1	ORPHA:313
HP:0000001	All	348938	NIPAL4	ORPHA:313
HP:0000001	All	7051	TGM1	ORPHA:313
HP:0000001	All	83706	FERMT3	OMIM:612840
HP:0000001	All	54440	SASH3	OMIM:301082
HP:0000001	All	5896	RAG1	ORPHA:39041
HP:0000001	All	5896	RAG1	ORPHA:231154
HP:0000001	All	5897	RAG2	ORPHA:39041
HP:0000001	All	64421	DCLRE1C	ORPHA:39041
HP:0000001	All	64421	DCLRE1C	OMIM:602450
HP:0000001	All	100	ADA	ORPHA:39041
HP:0000001	All	3575	IL7R	ORPHA:39041
HP:0000001	All	25802	LMOD1	OMIM:619362
HP:0000001	All	25802	LMOD1	ORPHA:2241
HP:0000001	All	11005	SPINK5	OMIM:256500
HP:0000001	All	2215	FCGR3B	ORPHA:464370
HP:0000001	All	5317	PKP1	ORPHA:158668
HP:0000001	All	204	AK2	OMIM:267500
HP:0000001	All	204	AK2	ORPHA:33355
HP:0000001	All	57591	MRTFA	OMIM:618847
HP:0000001	All	6929	TCF3	ORPHA:33110
HP:0000001	All	973	CD79A	ORPHA:33110
HP:0000001	All	974	CD79B	ORPHA:33110
HP:0000001	All	3543	IGLL1	ORPHA:33110
HP:0000001	All	3507	IGHM	ORPHA:33110
HP:0000001	All	29760	BLNK	ORPHA:33110
HP:0000001	All	56262	LRRC8A	ORPHA:33110
HP:0000001	All	79971	WLS	OMIM:619648
HP:0000001	All	9496	TBX4	ORPHA:261279
HP:0000001	All	54894	RNF43	ORPHA:157798
HP:0000001	All	4143	MAT1A	OMIM:250850
HP:0000001	All	8991	SELENBP1	OMIM:618148
HP:0000001	All	6340	SCNN1G	ORPHA:60033
HP:0000001	All	1080	CFTR	ORPHA:60033
HP:0000001	All	6337	SCNN1A	ORPHA:60033
HP:0000001	All	6338	SCNN1B	ORPHA:60033
HP:0000001	All	815	CAMK2A	OMIM:617798
HP:0000001	All	7306	TYRP1	ORPHA:79433
HP:0000001	All	2767	GNA11	ORPHA:1556
HP:0000001	All	151188	ARL6IP6	ORPHA:1556
HP:0000001	All	6772	STAT1	ORPHA:391487
HP:0000001	All	10043	TOM1	ORPHA:391487
HP:0000001	All	9663	LPIN2	ORPHA:77297
HP:0000001	All	5657	PRTN3	ORPHA:900
HP:0000001	All	3113	HLA-DPA1	ORPHA:900
HP:0000001	All	2303	FOXC2	ORPHA:33001
HP:0000001	All	1776	DNASE1L3	ORPHA:36412
HP:0000001	All	149233	IL23R	ORPHA:117
HP:0000001	All	3586	IL10	ORPHA:117
HP:0000001	All	1230	CCR1	ORPHA:117
HP:0000001	All	355	FAS	ORPHA:117
HP:0000001	All	101928376	IL12A-AS1	ORPHA:117
HP:0000001	All	7099	TLR4	ORPHA:117
HP:0000001	All	3459	IFNGR1	ORPHA:117
HP:0000001	All	720	C4A	ORPHA:117
HP:0000001	All	337867	UBAC2	ORPHA:117
HP:0000001	All	51752	ERAP1	ORPHA:117
HP:0000001	All	8302	KLRC4	ORPHA:117
HP:0000001	All	55630	SLC39A4	ORPHA:37
HP:0000001	All	831	CAST	OMIM:616295
HP:0000001	All	55612	FERMT1	ORPHA:2908
HP:0000001	All	10892	MALT1	OMIM:615468
HP:0000001	All	84818	IL17RC	ORPHA:1334
HP:0000001	All	64581	CLEC7A	ORPHA:1334
HP:0000001	All	23765	IL17RA	ORPHA:1334
HP:0000001	All	10758	TRAF3IP2	ORPHA:1334
HP:0000001	All	10758	TRAF3IP2	OMIM:615527
HP:0000001	All	112744	IL17F	ORPHA:1334
HP:0000001	All	64065	PERP	OMIM:619208
HP:0000001	All	2000	ELF4	OMIM:301074
HP:0000001	All	356	FASLG	ORPHA:3261
HP:0000001	All	843	CASP10	ORPHA:3261
HP:0000001	All	10125	RASGRP1	ORPHA:3261
HP:0000001	All	5966	REL	OMIM:619652
HP:0000001	All	10095	ARPC1B	OMIM:617718
HP:0000001	All	5618	PRLR	ORPHA:397685
HP:0000001	All	5618	PRLR	OMIM:615555
HP:0000001	All	3662	IRF4	ORPHA:3452
HP:0000001	All	9702	CEP57	OMIM:614114
HP:0000001	All	3105	HLA-A	ORPHA:179
HP:0000001	All	153642	ARSK	OMIM:619698
HP:0000001	All	9508	ADAMTS3	ORPHA:2136
HP:0000001	All	147372	CCBE1	ORPHA:2136
HP:0000001	All	22861	NLRP1	OMIM:618803
HP:0000001	All	146206	CARMIL2	OMIM:618131
HP:0000001	All	3937	LCP2	OMIM:619374
HP:0000001	All	6635	SNRPE	OMIM:615059
HP:0000001	All	60401	EDA2R	ORPHA:181
HP:0000001	All	6144	RPL21	OMIM:615885
HP:0000001	All	65992	DDRGK1	OMIM:602557
HP:0000001	All	4318	MMP9	OMIM:613073
HP:0000001	All	4595	MUTYH	ORPHA:247798
HP:0000001	All	4041	LRP5	ORPHA:2790
HP:0000001	All	4041	LRP5	OMIM:144750
HP:0000001	All	79705	LRRK1	OMIM:615198
HP:0000001	All	23592	LEMD3	ORPHA:166119
HP:0000001	All	3033	HADH	OMIM:231530
HP:0000001	All	3033	HADH	ORPHA:71212
HP:0000001	All	79029	AFG2B	OMIM:619616
HP:0000001	All	9289	ADGRG1	OMIM:615752
HP:0000001	All	80055	PGAP1	OMIM:615802
HP:0000001	All	4361	MRE11	ORPHA:251347
HP:0000001	All	2271	FH	OMIM:606812
HP:0000001	All	2639	GCDH	ORPHA:25
HP:0000001	All	54805	CNNM2	OMIM:616418
HP:0000001	All	1235	CCR6	ORPHA:220393
HP:0000001	All	1235	CCR6	ORPHA:220402
HP:0000001	All	1490	CCN2	ORPHA:220393
HP:0000001	All	1490	CCN2	ORPHA:220402
HP:0000001	All	3663	IRF5	ORPHA:220393
HP:0000001	All	3663	IRF5	ORPHA:220402
HP:0000001	All	79932	KIAA0319L	ORPHA:220402
HP:0000001	All	9842	PLEKHM1	OMIM:611497
HP:0000001	All	5422	POLA1	OMIM:301030
HP:0000001	All	57102	C12orf4	OMIM:618221
HP:0000001	All	4914	NTRK1	ORPHA:642
HP:0000001	All	4771	NF2	ORPHA:637
HP:0000001	All	81704	DOCK8	OMIM:243700
HP:0000001	All	7040	TGFB1	OMIM:618213
HP:0000001	All	35	ACADS	ORPHA:26792
HP:0000001	All	2917	GRM7	OMIM:618922
HP:0000001	All	57094	CPA6	OMIM:614418
HP:0000001	All	29998	BICRA	OMIM:619325
HP:0000001	All	6840	SVIL	OMIM:619040
HP:0000001	All	1829	DSG2	OMIM:610193
HP:0000001	All	4878	NPPA	ORPHA:1344
HP:0000001	All	7276	TTR	ORPHA:85451
HP:0000001	All	5256	PHKA2	ORPHA:264580
HP:0000001	All	5261	PHKG2	ORPHA:264580
HP:0000001	All	8573	CASK	OMIM:300908
HP:0000001	All	2539	G6PD	OMIM:300908
HP:0000001	All	55898	UNC45A	OMIM:619377
HP:0000001	All	8029	CUBN	ORPHA:35858
HP:0000001	All	81693	AMN	ORPHA:35858
HP:0000001	All	6773	STAT2	OMIM:616636
HP:0000001	All	8517	IKBKG	OMIM:300291
HP:0000001	All	79087	ALG12	ORPHA:79324
HP:0000001	All	3394	IRF8	OMIM:226990
HP:0000001	All	567	B2M	OMIM:241600
HP:0000001	All	959	CD40LG	OMIM:308230
HP:0000001	All	3579	CXCR2	OMIM:619407
HP:0000001	All	987	LRBA	OMIM:614700
HP:0000001	All	51645	PPIL1	OMIM:619301
HP:0000001	All	51362	CDC40	OMIM:619302
HP:0000001	All	6688	SPI1	OMIM:619707
HP:0000001	All	51135	IRAK4	OMIM:607676
HP:0000001	All	84617	TUBB6	OMIM:617732
HP:0000001	All	23780	APOL2	OMIM:181500
HP:0000001	All	267012	DAOA	OMIM:181500
HP:0000001	All	3356	HTR2A	OMIM:181500
HP:0000001	All	6854	SYN2	OMIM:181500
HP:0000001	All	27184	DISC2	OMIM:181500
HP:0000001	All	65078	RTN4R	OMIM:181500
HP:0000001	All	80832	APOL4	OMIM:181500
HP:0000001	All	1116	CHI3L1	OMIM:181500
HP:0000001	All	57379	AICDA	OMIM:605258
HP:0000001	All	9138	ARHGEF1	OMIM:618459
HP:0000001	All	1503	CTPS1	OMIM:615897
HP:0000001	All	970	CD70	OMIM:618261
HP:0000001	All	8737	RIPK1	OMIM:618108
HP:0000001	All	84433	CARD11	OMIM:616452
HP:0000001	All	841	CASP8	OMIM:607271
HP:0000002	Abnormality of body height	9276	COPB2	OMIM:617800
HP:0000002	Abnormality of body height	91147	TMEM67	ORPHA:140976
HP:0000002	Abnormality of body height	81848	SPRY4	ORPHA:432
HP:0000002	Abnormality of body height	128674	PROKR2	ORPHA:432
HP:0000002	Abnormality of body height	2253	FGF8	ORPHA:432
HP:0000002	Abnormality of body height	60675	PROK2	ORPHA:432
HP:0000002	Abnormality of body height	55636	CHD7	ORPHA:432
HP:0000002	Abnormality of body height	6870	TACR3	ORPHA:432
HP:0000002	Abnormality of body height	1848	DUSP6	ORPHA:432
HP:0000002	Abnormality of body height	26012	NSMF	ORPHA:432
HP:0000002	Abnormality of body height	55717	WDR11	ORPHA:432
HP:0000002	Abnormality of body height	9394	HS6ST1	ORPHA:432
HP:0000002	Abnormality of body height	2796	GNRH1	ORPHA:432
HP:0000002	Abnormality of body height	2798	GNRHR	ORPHA:432
HP:0000002	Abnormality of body height	84634	KISS1R	ORPHA:432
HP:0000002	Abnormality of body height	6866	TAC3	ORPHA:432
HP:0000002	Abnormality of body height	8822	FGF17	ORPHA:432
HP:0000002	Abnormality of body height	3814	KISS1	ORPHA:432
HP:0000002	Abnormality of body height	9241	NOG	OMIM:186570
HP:0000002	Abnormality of body height	4041	LRP5	OMIM:144750
HP:0000002	Abnormality of body height	595	CCND1	ORPHA:29073
HP:0000002	Abnormality of body height	4158	MC2R	OMIM:202200
HP:0000002	Abnormality of body height	4158	MC2R	ORPHA:361
HP:0000002	Abnormality of body height	65109	UPF3B	OMIM:300676
HP:0000002	Abnormality of body height	5351	PLOD1	OMIM:225400
HP:0000002	Abnormality of body height	26580	BSCL2	OMIM:269700
HP:0000002	Abnormality of body height	57680	CHD8	OMIM:615032
HP:0000002	Abnormality of body height	5048	PAFAH1B1	ORPHA:217385
HP:0000002	Abnormality of body height	7531	YWHAE	ORPHA:217385
HP:0000002	Abnormality of body height	79912	PYROXD1	OMIM:617258
HP:0000002	Abnormality of body height	85358	SHANK3	OMIM:606232
HP:0000002	Abnormality of body height	10297	APC2	ORPHA:821
HP:0000002	Abnormality of body height	6942	TCF20	OMIM:618430
HP:0000002	Abnormality of body height	129563	DIS3L2	ORPHA:2849
HP:0000002	Abnormality of body height	4221	MEN1	ORPHA:99725
HP:0000002	Abnormality of body height	9049	AIP	ORPHA:99725
HP:0000002	Abnormality of body height	9049	AIP	ORPHA:963
HP:0000002	Abnormality of body height	50940	PDE11A	ORPHA:1359
HP:0000002	Abnormality of body height	4160	MC4R	OMIM:618406
HP:0000002	Abnormality of body height	55109	AGGF1	ORPHA:90308
HP:0000002	Abnormality of body height	875	CBS	OMIM:236200
HP:0000002	Abnormality of body height	3973	LHCGR	ORPHA:3000
HP:0000002	Abnormality of body height	2248	FGF3	ORPHA:90024
HP:0000002	Abnormality of body height	10555	AGPAT2	OMIM:608594
HP:0000002	Abnormality of body height	56246	MRAP	ORPHA:361
HP:0000002	Abnormality of body height	6770	STAR	ORPHA:361
HP:0000002	Abnormality of body height	23530	NNT	ORPHA:361
HP:0000002	Abnormality of body height	10587	TXNRD2	ORPHA:361
HP:0000002	Abnormality of body height	4038	LRP4	ORPHA:3152
HP:0000002	Abnormality of body height	4883	NPR3	OMIM:619543
HP:0000002	Abnormality of body height	18	ABAT	OMIM:613163
HP:0000002	Abnormality of body height	7046	TGFBR1	ORPHA:60030
HP:0000002	Abnormality of body height	7046	TGFBR1	ORPHA:91387
HP:0000002	Abnormality of body height	7048	TGFBR2	ORPHA:60030
HP:0000002	Abnormality of body height	7048	TGFBR2	ORPHA:91387
HP:0000002	Abnormality of body height	7042	TGFB2	OMIM:614816
HP:0000002	Abnormality of body height	7042	TGFB2	ORPHA:91387
HP:0000002	Abnormality of body height	9487	PIGL	ORPHA:3474
HP:0000002	Abnormality of body height	367	AR	ORPHA:99429
HP:0000002	Abnormality of body height	4629	MYH11	ORPHA:91387
HP:0000002	Abnormality of body height	4015	LOX	ORPHA:91387
HP:0000002	Abnormality of body height	4088	SMAD3	ORPHA:91387
HP:0000002	Abnormality of body height	59	ACTA2	ORPHA:91387
HP:0000002	Abnormality of body height	5592	PRKG1	ORPHA:91387
HP:0000002	Abnormality of body height	2301	FOXE3	ORPHA:91387
HP:0000002	Abnormality of body height	4144	MAT2A	ORPHA:91387
HP:0000002	Abnormality of body height	23493	HEY2	ORPHA:91387
HP:0000002	Abnormality of body height	8076	MFAP5	ORPHA:91387
HP:0000002	Abnormality of body height	4638	MYLK	ORPHA:91387
HP:0000002	Abnormality of body height	3170	FOXA2	ORPHA:95494
HP:0000002	Abnormality of body height	51114	ZDHHC9	OMIM:300799
HP:0000002	Abnormality of body height	51114	ZDHHC9	ORPHA:776
HP:0000002	Abnormality of body height	84627	ZNF469	OMIM:229200
HP:0000002	Abnormality of body height	3248	HPGD	OMIM:259100
HP:0000002	Abnormality of body height	5447	POR	ORPHA:95699
HP:0000002	Abnormality of body height	4125	MAN2B1	ORPHA:309282
HP:0000002	Abnormality of body height	80816	ASXL3	OMIM:615485
HP:0000002	Abnormality of body height	80816	ASXL3	ORPHA:352577
HP:0000002	Abnormality of body height	1742	DLG4	OMIM:618793
HP:0000002	Abnormality of body height	55033	FKBP14	ORPHA:300179
HP:0000002	Abnormality of body height	113189	CHST14	ORPHA:2953
HP:0000002	Abnormality of body height	29940	DSE	ORPHA:2953
HP:0000002	Abnormality of body height	54872	PIGG	ORPHA:280
HP:0000002	Abnormality of body height	7469	NELFA	ORPHA:280
HP:0000002	Abnormality of body height	79576	NKAP	OMIM:301039
HP:0000002	Abnormality of body height	79875	THSD4	OMIM:619825
HP:0000002	Abnormality of body height	23395	LARS2	OMIM:615300
HP:0000002	Abnormality of body height	4841	NONO	ORPHA:466791
HP:0000002	Abnormality of body height	4841	NONO	OMIM:300967
HP:0000002	Abnormality of body height	1291	COL6A1	OMIM:254090
HP:0000002	Abnormality of body height	1293	COL6A3	OMIM:254090
HP:0000002	Abnormality of body height	7040	TGFB1	OMIM:131300
HP:0000002	Abnormality of body height	7040	TGFB1	ORPHA:1328
HP:0000002	Abnormality of body height	84665	MYPN	ORPHA:171439
HP:0000002	Abnormality of body height	58	ACTA1	ORPHA:171439
HP:0000002	Abnormality of body height	58	ACTA1	OMIM:161800
HP:0000002	Abnormality of body height	390594	KBTBD13	ORPHA:171439
HP:0000002	Abnormality of body height	4703	NEB	ORPHA:171439
HP:0000002	Abnormality of body height	4703	NEB	OMIM:256030
HP:0000002	Abnormality of body height	4703	NEB	ORPHA:399103
HP:0000002	Abnormality of body height	10324	KLHL41	ORPHA:171439
HP:0000002	Abnormality of body height	7170	TPM3	ORPHA:171439
HP:0000002	Abnormality of body height	1890	TYMP	OMIM:603041
HP:0000002	Abnormality of body height	5428	POLG	OMIM:603041
HP:0000002	Abnormality of body height	5428	POLG	OMIM:613662
HP:0000002	Abnormality of body height	92335	STRADA	OMIM:611087
HP:0000002	Abnormality of body height	23152	CIC	OMIM:617600
HP:0000002	Abnormality of body height	6301	SARS1	OMIM:617709
HP:0000002	Abnormality of body height	92609	TIMM50	ORPHA:505216
HP:0000002	Abnormality of body height	23512	SUZ12	OMIM:618786
HP:0000002	Abnormality of body height	84282	RNF135	ORPHA:137634
HP:0000002	Abnormality of body height	3190	HNRNPK	ORPHA:453504
HP:0000002	Abnormality of body height	3190	HNRNPK	ORPHA:352665
HP:0000002	Abnormality of body height	2099	ESR1	ORPHA:785
HP:0000002	Abnormality of body height	23405	DICER1	OMIM:618272
HP:0000002	Abnormality of body height	9158	FIBP	OMIM:617107
HP:0000002	Abnormality of body height	5296	PIK3R2	OMIM:603387
HP:0000002	Abnormality of body height	8925	HERC1	ORPHA:457359
HP:0000002	Abnormality of body height	54757	FAM20A	OMIM:204690
HP:0000002	Abnormality of body height	10984	KCNQ1OT1	OMIM:130650
HP:0000002	Abnormality of body height	3784	KCNQ1	OMIM:130650
HP:0000002	Abnormality of body height	815	CAMK2A	OMIM:617798
HP:0000002	Abnormality of body height	23229	ARHGEF9	OMIM:300607
HP:0000002	Abnormality of body height	2146	EZH2	OMIM:277590
HP:0000002	Abnormality of body height	8726	EED	OMIM:617561
HP:0000002	Abnormality of body height	5159	PDGFRB	OMIM:616592
HP:0000002	Abnormality of body height	83550	GPR101	OMIM:300942
HP:0000002	Abnormality of body height	2719	GPC3	OMIM:312870
HP:0000002	Abnormality of body height	2137	EXTL3	ORPHA:508533
HP:0000002	Abnormality of body height	2137	EXTL3	OMIM:617425
HP:0000002	Abnormality of body height	4882	NPR2	OMIM:602875
HP:0000002	Abnormality of body height	4882	NPR2	ORPHA:40
HP:0000002	Abnormality of body height	1795	DOCK3	OMIM:618292
HP:0000002	Abnormality of body height	7703	PCGF2	OMIM:618371
HP:0000002	Abnormality of body height	50515	CHST11	OMIM:618167
HP:0000002	Abnormality of body height	6340	SCNN1G	ORPHA:171876
HP:0000002	Abnormality of body height	6337	SCNN1A	ORPHA:171876
HP:0000002	Abnormality of body height	6338	SCNN1B	ORPHA:171876
HP:0000002	Abnormality of body height	7086	TKT	OMIM:617044
HP:0000002	Abnormality of body height	7086	TKT	ORPHA:488618
HP:0000002	Abnormality of body height	375056	MIA3	OMIM:619269
HP:0000002	Abnormality of body height	3033	HADH	ORPHA:71212
HP:0000002	Abnormality of body height	1499	CTNNB1	ORPHA:54595
HP:0000002	Abnormality of body height	2074	ERCC6	OMIM:133540
HP:0000002	Abnormality of body height	2074	ERCC6	OMIM:278800
HP:0000002	Abnormality of body height	51574	LARP7	OMIM:615071
HP:0000002	Abnormality of body height	286053	NSMCE2	OMIM:617253
HP:0000002	Abnormality of body height	1280	COL2A1	ORPHA:93316
HP:0000002	Abnormality of body height	1280	COL2A1	OMIM:184250
HP:0000002	Abnormality of body height	118429	ANTXR2	ORPHA:2176
HP:0000002	Abnormality of body height	55733	HHAT	OMIM:600092
HP:0000002	Abnormality of body height	55733	HHAT	ORPHA:1422
HP:0000002	Abnormality of body height	23363	OBSL1	OMIM:612921
HP:0000002	Abnormality of body height	59341	TRPV4	ORPHA:93314
HP:0000002	Abnormality of body height	59341	TRPV4	OMIM:156530
HP:0000002	Abnormality of body height	59341	TRPV4	OMIM:168400
HP:0000002	Abnormality of body height	59341	TRPV4	ORPHA:2635
HP:0000002	Abnormality of body height	64220	STRA6	OMIM:601186
HP:0000002	Abnormality of body height	2972	BRF1	ORPHA:444072
HP:0000002	Abnormality of body height	2317	FLNB	OMIM:112310
HP:0000002	Abnormality of body height	3313	HSPA9	OMIM:616854
HP:0000002	Abnormality of body height	10908	PNPLA6	OMIM:275400
HP:0000002	Abnormality of body height	150468	CKAP2L	ORPHA:3255
HP:0000002	Abnormality of body height	10683	DLL3	OMIM:277300
HP:0000002	Abnormality of body height	145873	MESP2	OMIM:277300
HP:0000002	Abnormality of body height	5476	CTSA	OMIM:256540
HP:0000002	Abnormality of body height	51360	MBTPS2	ORPHA:2273
HP:0000002	Abnormality of body height	51360	MBTPS2	OMIM:301014
HP:0000002	Abnormality of body height	23250	ATP11A	OMIM:619851
HP:0000002	Abnormality of body height	6777	STAT5B	OMIM:245590
HP:0000002	Abnormality of body height	55037	PTCD3	OMIM:619057
HP:0000002	Abnormality of body height	2058	EPRS1	OMIM:617951
HP:0000002	Abnormality of body height	64131	XYLT1	OMIM:615777
HP:0000002	Abnormality of body height	64131	XYLT1	ORPHA:1425
HP:0000002	Abnormality of body height	92344	GORAB	OMIM:231070
HP:0000002	Abnormality of body height	92344	GORAB	ORPHA:2078
HP:0000002	Abnormality of body height	2200	FBN1	ORPHA:969
HP:0000002	Abnormality of body height	2200	FBN1	OMIM:102370
HP:0000002	Abnormality of body height	4054	LTBP3	ORPHA:969
HP:0000002	Abnormality of body height	9719	ADAMTSL2	ORPHA:1901
HP:0000002	Abnormality of body height	9509	ADAMTS2	ORPHA:1901
HP:0000002	Abnormality of body height	157570	ESCO2	ORPHA:2319
HP:0000002	Abnormality of body height	5191	PEX7	OMIM:215100
HP:0000002	Abnormality of body height	81620	CDT1	ORPHA:2554
HP:0000002	Abnormality of body height	5000	ORC4	ORPHA:2554
HP:0000002	Abnormality of body height	23594	ORC6	ORPHA:2554
HP:0000002	Abnormality of body height	8318	CDC45	ORPHA:2554
HP:0000002	Abnormality of body height	990	CDC6	ORPHA:2554
HP:0000002	Abnormality of body height	4998	ORC1	ORPHA:2554
HP:0000002	Abnormality of body height	51053	GMNN	ORPHA:2554
HP:0000002	Abnormality of body height	51053	GMNN	OMIM:616835
HP:0000002	Abnormality of body height	3339	HSPG2	ORPHA:1865
HP:0000002	Abnormality of body height	3339	HSPG2	OMIM:224410
HP:0000002	Abnormality of body height	54539	NDUFB11	ORPHA:2556
HP:0000002	Abnormality of body height	1349	COX7B	ORPHA:2556
HP:0000002	Abnormality of body height	3052	HCCS	ORPHA:2556
HP:0000002	Abnormality of body height	9401	RECQL4	OMIM:218600
HP:0000002	Abnormality of body height	2688	GH1	OMIM:262400
HP:0000002	Abnormality of body height	2688	GH1	OMIM:173100
HP:0000002	Abnormality of body height	26175	LYSET	OMIM:619345
HP:0000002	Abnormality of body height	1311	COMP	OMIM:132400
HP:0000002	Abnormality of body height	51199	NIN	OMIM:614851
HP:0000002	Abnormality of body height	6023	RMRP	OMIM:607095
HP:0000002	Abnormality of body height	9419	CRIPT	OMIM:615789
HP:0000002	Abnormality of body height	139285	AMER1	ORPHA:2780
HP:0000002	Abnormality of body height	64374	SIL1	ORPHA:559
HP:0000002	Abnormality of body height	51763	INPP5K	ORPHA:559
HP:0000002	Abnormality of body height	6911	TBX6	OMIM:122600
HP:0000002	Abnormality of body height	6911	TBX6	ORPHA:1797
HP:0000002	Abnormality of body height	57167	SALL4	ORPHA:2307
HP:0000002	Abnormality of body height	6885	MAP3K7	ORPHA:3238
HP:0000002	Abnormality of body height	2261	FGFR3	OMIM:616482
HP:0000002	Abnormality of body height	1857	DVL3	ORPHA:3107
HP:0000002	Abnormality of body height	7474	WNT5A	ORPHA:3107
HP:0000002	Abnormality of body height	1855	DVL1	ORPHA:3107
HP:0000002	Abnormality of body height	2535	FZD2	ORPHA:3107
HP:0000002	Abnormality of body height	9791	PTDSS1	ORPHA:2658
HP:0000002	Abnormality of body height	80152	CENPT	OMIM:618702
HP:0000002	Abnormality of body height	65992	DDRGK1	ORPHA:93352
HP:0000002	Abnormality of body height	25914	RTTN	ORPHA:468631
HP:0000002	Abnormality of body height	6595	SMARCA2	ORPHA:3051
HP:0000002	Abnormality of body height	1718	DHCR24	ORPHA:35107
HP:0000002	Abnormality of body height	2692	GHRHR	OMIM:618157
HP:0000002	Abnormality of body height	2690	GHR	OMIM:262500
HP:0000002	Abnormality of body height	2690	GHR	ORPHA:633
HP:0000002	Abnormality of body height	5130	PCYT1A	ORPHA:85167
HP:0000002	Abnormality of body height	2260	FGFR1	ORPHA:2645
HP:0000002	Abnormality of body height	2260	FGFR1	OMIM:166250
HP:0000002	Abnormality of body height	3832	KIF11	ORPHA:2526
HP:0000002	Abnormality of body height	124583	CANT1	OMIM:251450
HP:0000002	Abnormality of body height	124583	CANT1	ORPHA:1425
HP:0000002	Abnormality of body height	126792	B3GALT6	OMIM:271640
HP:0000002	Abnormality of body height	5295	PIK3R1	ORPHA:3163
HP:0000002	Abnormality of body height	5745	PTH1R	OMIM:156400
HP:0000002	Abnormality of body height	3423	IDS	OMIM:309900
HP:0000002	Abnormality of body height	100151683	RNU4ATAC	ORPHA:2636
HP:0000002	Abnormality of body height	6389	SDHA	ORPHA:3208
HP:0000002	Abnormality of body height	6390	SDHB	ORPHA:3208
HP:0000002	Abnormality of body height	6392	SDHD	ORPHA:3208
HP:0000002	Abnormality of body height	644096	SDHAF1	ORPHA:3208
HP:0000002	Abnormality of body height	6137	RPL13	OMIM:618728
HP:0000002	Abnormality of body height	2720	GLB1	OMIM:230500
HP:0000002	Abnormality of body height	4052	LTBP1	ORPHA:90349
HP:0000002	Abnormality of body height	30008	EFEMP2	ORPHA:90349
HP:0000002	Abnormality of body height	10516	FBLN5	ORPHA:90349
HP:0000002	Abnormality of body height	55835	CENPJ	OMIM:613676
HP:0000002	Abnormality of body height	5831	PYCR1	ORPHA:2078
HP:0000002	Abnormality of body height	1788	DNMT3A	OMIM:618724
HP:0000002	Abnormality of body height	1836	SLC26A2	ORPHA:93298
HP:0000002	Abnormality of body height	63901	FAM111A	OMIM:127000
HP:0000002	Abnormality of body height	9321	TRIP11	ORPHA:93299
HP:0000002	Abnormality of body height	2072	ERCC4	OMIM:610965
HP:0000002	Abnormality of body height	23522	KAT6B	ORPHA:3047
HP:0000002	Abnormality of body height	166929	SGMS2	OMIM:126550
HP:0000002	Abnormality of body height	26123	TCTN3	ORPHA:2753
HP:0000002	Abnormality of body height	55790	CSGALNACT1	ORPHA:1425
HP:0000002	Abnormality of body height	6473	SHOX	ORPHA:2632
HP:0000002	Abnormality of body height	1749	DLX5	OMIM:220600
HP:0000002	Abnormality of body height	3636	INPPL1	ORPHA:2746
HP:0000002	Abnormality of body height	25871	NEPRO	OMIM:618853
HP:0000002	Abnormality of body height	5426	POLE	OMIM:618336
HP:0000002	Abnormality of body height	63895	PIEZO2	ORPHA:2461
HP:0000002	Abnormality of body height	3480	IGF1R	OMIM:270450
HP:0000002	Abnormality of body height	1278	COL1A2	ORPHA:1899
HP:0000002	Abnormality of body height	1277	COL1A1	ORPHA:1899
HP:0000002	Abnormality of body height	54808	DYM	ORPHA:239
HP:0000002	Abnormality of body height	4089	SMAD4	ORPHA:2588
HP:0000002	Abnormality of body height	4534	MTM1	OMIM:310400
HP:0000002	Abnormality of body height	6399	TRAPPC2	ORPHA:93284
HP:0000002	Abnormality of body height	6399	TRAPPC2	OMIM:313400
HP:0000002	Abnormality of body height	153642	ARSK	OMIM:619698
HP:0000002	Abnormality of body height	579	NKX3-2	OMIM:613330
HP:0000002	Abnormality of body height	2588	GALNS	OMIM:253000
HP:0000002	Abnormality of body height	168667	BMPER	OMIM:608022
HP:0000002	Abnormality of body height	1968	EIF2S3	OMIM:300148
HP:0000002	Abnormality of body height	55627	SMPD4	OMIM:618622
HP:0000002	Abnormality of body height	5324	PLAG1	OMIM:618907
HP:0000002	Abnormality of body height	23394	ADNP	ORPHA:404448
HP:0000002	Abnormality of body height	23394	ADNP	OMIM:615873
HP:0000002	Abnormality of body height	55703	POLR3B	OMIM:614381
HP:0000002	Abnormality of body height	55703	POLR3B	OMIM:607694
HP:0000002	Abnormality of body height	1139	CHRNA7	ORPHA:199318
HP:0000002	Abnormality of body height	8216	LZTR1	OMIM:616564
HP:0000002	Abnormality of body height	8216	LZTR1	ORPHA:648
HP:0000002	Abnormality of body height	8216	LZTR1	OMIM:605275
HP:0000002	Abnormality of body height	6228	RPS23	OMIM:617412
HP:0000002	Abnormality of body height	215	ABCD1	ORPHA:388
HP:0000002	Abnormality of body height	5979	RET	ORPHA:388
HP:0000002	Abnormality of body height	2668	GDNF	ORPHA:388
HP:0000002	Abnormality of body height	6608	SMO	ORPHA:388
HP:0000002	Abnormality of body height	6608	SMO	OMIM:241800
HP:0000002	Abnormality of body height	1889	ECE1	ORPHA:388
HP:0000002	Abnormality of body height	6720	SREBF1	ORPHA:388
HP:0000002	Abnormality of body height	1908	EDN3	ORPHA:388
HP:0000002	Abnormality of body height	223117	SEMA3D	ORPHA:388
HP:0000002	Abnormality of body height	538	ATP7A	ORPHA:388
HP:0000002	Abnormality of body height	538	ATP7A	OMIM:309400
HP:0000002	Abnormality of body height	1910	EDNRB	ORPHA:388
HP:0000002	Abnormality of body height	10512	SEMA3C	ORPHA:388
HP:0000002	Abnormality of body height	2064	ERBB2	ORPHA:388
HP:0000002	Abnormality of body height	2065	ERBB3	ORPHA:388
HP:0000002	Abnormality of body height	4902	NRTN	ORPHA:388
HP:0000002	Abnormality of body height	3481	IGF2	ORPHA:231140
HP:0000002	Abnormality of body height	3481	IGF2	ORPHA:231144
HP:0000002	Abnormality of body height	3481	IGF2	OMIM:616489
HP:0000002	Abnormality of body height	283120	H19	ORPHA:231140
HP:0000002	Abnormality of body height	283120	H19	ORPHA:231144
HP:0000002	Abnormality of body height	5932	RBBP8	OMIM:606744
HP:0000002	Abnormality of body height	5932	RBBP8	ORPHA:808
HP:0000002	Abnormality of body height	6729	SRP54	OMIM:618752
HP:0000002	Abnormality of body height	6729	SRP54	ORPHA:811
HP:0000002	Abnormality of body height	6729	SRP54	OMIM:260400
HP:0000002	Abnormality of body height	166378	AFG2A	OMIM:616577
HP:0000002	Abnormality of body height	1161	ERCC8	OMIM:216400
HP:0000002	Abnormality of body height	5832	ALDH18A1	OMIM:616586
HP:0000002	Abnormality of body height	5832	ALDH18A1	ORPHA:447760
HP:0000002	Abnormality of body height	5832	ALDH18A1	OMIM:601162
HP:0000002	Abnormality of body height	5832	ALDH18A1	OMIM:219150
HP:0000002	Abnormality of body height	54453	RIN2	OMIM:613075
HP:0000002	Abnormality of body height	6884	TAF13	OMIM:617432
HP:0000002	Abnormality of body height	6884	TAF13	ORPHA:2512
HP:0000002	Abnormality of body height	10111	RAD50	OMIM:613078
HP:0000002	Abnormality of body height	7436	VLDLR	OMIM:224050
HP:0000002	Abnormality of body height	7436	VLDLR	ORPHA:1766
HP:0000002	Abnormality of body height	51109	RDH11	OMIM:616108
HP:0000002	Abnormality of body height	51109	RDH11	ORPHA:436245
HP:0000002	Abnormality of body height	171023	ASXL1	ORPHA:97297
HP:0000002	Abnormality of body height	171023	ASXL1	OMIM:605039
HP:0000002	Abnormality of body height	23312	DMXL2	OMIM:616113
HP:0000002	Abnormality of body height	8036	SHOC2	ORPHA:2701
HP:0000002	Abnormality of body height	8036	SHOC2	OMIM:607721
HP:0000002	Abnormality of body height	5500	PPP1CB	ORPHA:2701
HP:0000002	Abnormality of body height	5500	PPP1CB	OMIM:617506
HP:0000002	Abnormality of body height	3340	NDST1	OMIM:616116
HP:0000002	Abnormality of body height	4247	MGAT2	OMIM:212066
HP:0000002	Abnormality of body height	54	ACP5	ORPHA:1855
HP:0000002	Abnormality of body height	54	ACP5	OMIM:607944
HP:0000002	Abnormality of body height	55131	RBM28	ORPHA:157954
HP:0000002	Abnormality of body height	55131	RBM28	OMIM:612079
HP:0000002	Abnormality of body height	79659	DYNC2H1	OMIM:613091
HP:0000002	Abnormality of body height	79659	DYNC2H1	ORPHA:474
HP:0000002	Abnormality of body height	11285	B4GALT7	OMIM:130070
HP:0000002	Abnormality of body height	11285	B4GALT7	ORPHA:75496
HP:0000002	Abnormality of body height	6772	STAT1	ORPHA:391487
HP:0000002	Abnormality of body height	6772	STAT1	OMIM:614162
HP:0000002	Abnormality of body height	10043	TOM1	ORPHA:391487
HP:0000002	Abnormality of body height	8493	PPM1D	OMIM:617450
HP:0000002	Abnormality of body height	5034	P4HB	OMIM:112240
HP:0000002	Abnormality of body height	5034	P4HB	ORPHA:2050
HP:0000002	Abnormality of body height	51633	OTUD6B	OMIM:617452
HP:0000002	Abnormality of body height	51633	OTUD6B	ORPHA:505237
HP:0000002	Abnormality of body height	9354	UBE4A	OMIM:619639
HP:0000002	Abnormality of body height	5604	MAP2K1	OMIM:615279
HP:0000002	Abnormality of body height	5604	MAP2K1	ORPHA:1340
HP:0000002	Abnormality of body height	5604	MAP2K1	OMIM:163950
HP:0000002	Abnormality of body height	2736	GLI2	OMIM:610829
HP:0000002	Abnormality of body height	2736	GLI2	ORPHA:220386
HP:0000002	Abnormality of body height	2736	GLI2	ORPHA:280200
HP:0000002	Abnormality of body height	2736	GLI2	ORPHA:93926
HP:0000002	Abnormality of body height	2736	GLI2	ORPHA:93924
HP:0000002	Abnormality of body height	2736	GLI2	ORPHA:93925
HP:0000002	Abnormality of body height	2736	GLI2	OMIM:615849
HP:0000002	Abnormality of body height	79718	TBL1XR1	OMIM:602342
HP:0000002	Abnormality of body height	5605	MAP2K2	OMIM:615280
HP:0000002	Abnormality of body height	5605	MAP2K2	ORPHA:638
HP:0000002	Abnormality of body height	5605	MAP2K2	ORPHA:1340
HP:0000002	Abnormality of body height	54828	BCAS3	OMIM:619641
HP:0000002	Abnormality of body height	113179	ADAT3	OMIM:615286
HP:0000002	Abnormality of body height	113179	ADAT3	ORPHA:363528
HP:0000002	Abnormality of body height	50485	SMARCAL1	ORPHA:1830
HP:0000002	Abnormality of body height	79971	WLS	OMIM:619648
HP:0000002	Abnormality of body height	3373	HYAL1	OMIM:601492
HP:0000002	Abnormality of body height	3373	HYAL1	ORPHA:67041
HP:0000002	Abnormality of body height	25836	NIPBL	OMIM:122470
HP:0000002	Abnormality of body height	25836	NIPBL	ORPHA:199
HP:0000002	Abnormality of body height	23499	MACF1	OMIM:618325
HP:0000002	Abnormality of body height	4087	SMAD2	OMIM:619657
HP:0000002	Abnormality of body height	2778	GNAS	ORPHA:79443
HP:0000002	Abnormality of body height	2778	GNAS	ORPHA:79444
HP:0000002	Abnormality of body height	2778	GNAS	ORPHA:79445
HP:0000002	Abnormality of body height	2778	GNAS	OMIM:612463
HP:0000002	Abnormality of body height	2778	GNAS	OMIM:612462
HP:0000002	Abnormality of body height	2778	GNAS	OMIM:103580
HP:0000002	Abnormality of body height	2778	GNAS	ORPHA:94089
HP:0000002	Abnormality of body height	5836	PYGL	ORPHA:369
HP:0000002	Abnormality of body height	79648	MCPH1	OMIM:251200
HP:0000002	Abnormality of body height	79648	MCPH1	ORPHA:2512
HP:0000002	Abnormality of body height	178	AGL	ORPHA:366
HP:0000002	Abnormality of body height	178	AGL	OMIM:232400
HP:0000002	Abnormality of body height	1523	CUX1	OMIM:618330
HP:0000002	Abnormality of body height	5626	PROP1	ORPHA:90695
HP:0000002	Abnormality of body height	5626	PROP1	OMIM:262600
HP:0000002	Abnormality of body height	6658	SOX3	ORPHA:90695
HP:0000002	Abnormality of body height	6658	SOX3	ORPHA:3157
HP:0000002	Abnormality of body height	6658	SOX3	ORPHA:67045
HP:0000002	Abnormality of body height	6658	SOX3	OMIM:300123
HP:0000002	Abnormality of body height	7227	TRPS1	ORPHA:77258
HP:0000002	Abnormality of body height	7227	TRPS1	OMIM:190350
HP:0000002	Abnormality of body height	7227	TRPS1	OMIM:190351
HP:0000002	Abnormality of body height	7227	TRPS1	ORPHA:502
HP:0000002	Abnormality of body height	435	ASL	ORPHA:23
HP:0000002	Abnormality of body height	64132	XYLT2	OMIM:605822
HP:0000002	Abnormality of body height	64132	XYLT2	ORPHA:85194
HP:0000002	Abnormality of body height	7291	TWIST1	ORPHA:794
HP:0000002	Abnormality of body height	7291	TWIST1	OMIM:101400
HP:0000002	Abnormality of body height	2263	FGFR2	ORPHA:794
HP:0000002	Abnormality of body height	2263	FGFR2	OMIM:101400
HP:0000002	Abnormality of body height	3479	IGF1	ORPHA:73272
HP:0000002	Abnormality of body height	3479	IGF1	OMIM:608747
HP:0000002	Abnormality of body height	57190	SELENON	ORPHA:324604
HP:0000002	Abnormality of body height	57190	SELENON	OMIM:602771
HP:0000002	Abnormality of body height	4625	MYH7	ORPHA:324604
HP:0000002	Abnormality of body height	4625	MYH7	OMIM:255160
HP:0000002	Abnormality of body height	7273	TTN	ORPHA:324604
HP:0000002	Abnormality of body height	10785	WDR4	OMIM:618346
HP:0000002	Abnormality of body height	10785	WDR4	OMIM:618347
HP:0000002	Abnormality of body height	10785	WDR4	ORPHA:2065
HP:0000002	Abnormality of body height	4598	MVK	ORPHA:29
HP:0000002	Abnormality of body height	4598	MVK	OMIM:610377
HP:0000002	Abnormality of body height	54517	PUS7	OMIM:618342
HP:0000002	Abnormality of body height	8573	CASK	OMIM:300749
HP:0000002	Abnormality of body height	89884	LHX4	OMIM:262700
HP:0000002	Abnormality of body height	89884	LHX4	ORPHA:95496
HP:0000002	Abnormality of body height	57122	NUP107	OMIM:618348
HP:0000002	Abnormality of body height	57122	NUP107	ORPHA:243
HP:0000002	Abnormality of body height	57122	NUP107	ORPHA:2065
HP:0000002	Abnormality of body height	7681	MKRN3	OMIM:176270
HP:0000002	Abnormality of body height	3653	IPW	OMIM:176270
HP:0000002	Abnormality of body height	54551	MAGEL2	OMIM:176270
HP:0000002	Abnormality of body height	54551	MAGEL2	ORPHA:398069
HP:0000002	Abnormality of body height	54551	MAGEL2	ORPHA:177904
HP:0000002	Abnormality of body height	54551	MAGEL2	ORPHA:177901
HP:0000002	Abnormality of body height	54551	MAGEL2	ORPHA:177910
HP:0000002	Abnormality of body height	54551	MAGEL2	OMIM:615547
HP:0000002	Abnormality of body height	54551	MAGEL2	ORPHA:98754
HP:0000002	Abnormality of body height	791114	PWRN1	OMIM:176270
HP:0000002	Abnormality of body height	100033413	SNORD116-1	OMIM:176270
HP:0000002	Abnormality of body height	8924	HERC2	OMIM:176270
HP:0000002	Abnormality of body height	145624	PWAR1	OMIM:176270
HP:0000002	Abnormality of body height	23742	NPAP1	OMIM:176270
HP:0000002	Abnormality of body height	338433	SNORD115-1	OMIM:176270
HP:0000002	Abnormality of body height	27125	AFF4	ORPHA:444077
HP:0000002	Abnormality of body height	27125	AFF4	OMIM:616368
HP:0000002	Abnormality of body height	55630	SLC39A4	ORPHA:37
HP:0000002	Abnormality of body height	55630	SLC39A4	OMIM:201100
HP:0000002	Abnormality of body height	55315	SLC29A3	OMIM:602782
HP:0000002	Abnormality of body height	55315	SLC29A3	ORPHA:168569
HP:0000002	Abnormality of body height	55315	SLC29A3	ORPHA:1782
HP:0000002	Abnormality of body height	10733	PLK4	OMIM:616171
HP:0000002	Abnormality of body height	10733	PLK4	ORPHA:808
HP:0000002	Abnormality of body height	10733	PLK4	ORPHA:2518
HP:0000002	Abnormality of body height	4967	OGDH	ORPHA:31
HP:0000002	Abnormality of body height	11277	TREX1	OMIM:225750
HP:0000002	Abnormality of body height	11277	TREX1	ORPHA:51
HP:0000002	Abnormality of body height	1297	COL9A1	ORPHA:166002
HP:0000002	Abnormality of body height	1297	COL9A1	ORPHA:250984
HP:0000002	Abnormality of body height	1297	COL9A1	OMIM:614134
HP:0000002	Abnormality of body height	1298	COL9A2	ORPHA:166002
HP:0000002	Abnormality of body height	1298	COL9A2	OMIM:614284
HP:0000002	Abnormality of body height	1298	COL9A2	ORPHA:250984
HP:0000002	Abnormality of body height	1299	COL9A3	ORPHA:166002
HP:0000002	Abnormality of body height	1299	COL9A3	ORPHA:250984
HP:0000002	Abnormality of body height	1281	COL3A1	OMIM:130050
HP:0000002	Abnormality of body height	1281	COL3A1	ORPHA:286
HP:0000002	Abnormality of body height	1281	COL3A1	ORPHA:2500
HP:0000002	Abnormality of body height	427	ASAH1	ORPHA:333
HP:0000002	Abnormality of body height	55777	MBD5	OMIM:156200
HP:0000002	Abnormality of body height	55777	MBD5	ORPHA:228402
HP:0000002	Abnormality of body height	254394	MCM9	OMIM:616185
HP:0000002	Abnormality of body height	10588	MTHFS	OMIM:618367
HP:0000002	Abnormality of body height	22930	RAB3GAP1	OMIM:600118
HP:0000002	Abnormality of body height	22930	RAB3GAP1	OMIM:619420
HP:0000002	Abnormality of body height	22930	RAB3GAP1	ORPHA:2510
HP:0000002	Abnormality of body height	22930	RAB3GAP1	ORPHA:1387
HP:0000002	Abnormality of body height	3549	IHH	ORPHA:63446
HP:0000002	Abnormality of body height	3549	IHH	OMIM:112500
HP:0000002	Abnormality of body height	3549	IHH	ORPHA:93388
HP:0000002	Abnormality of body height	3549	IHH	OMIM:607778
HP:0000002	Abnormality of body height	2334	AFF2	OMIM:309548
HP:0000002	Abnormality of body height	2334	AFF2	ORPHA:100973
HP:0000002	Abnormality of body height	84068	SLC10A7	OMIM:618363
HP:0000002	Abnormality of body height	7468	NSD2	OMIM:619695
HP:0000002	Abnormality of body height	7468	NSD2	OMIM:194190
HP:0000002	Abnormality of body height	50945	TBX22	OMIM:302905
HP:0000002	Abnormality of body height	50945	TBX22	ORPHA:921
HP:0000002	Abnormality of body height	3054	HCFC1	OMIM:309541
HP:0000002	Abnormality of body height	201163	FLCN	OMIM:610883
HP:0000002	Abnormality of body height	2717	GLA	ORPHA:324
HP:0000002	Abnormality of body height	2131	EXT1	ORPHA:321
HP:0000002	Abnormality of body height	2131	EXT1	ORPHA:502
HP:0000002	Abnormality of body height	2131	EXT1	OMIM:133700
HP:0000002	Abnormality of body height	2132	EXT2	ORPHA:321
HP:0000002	Abnormality of body height	2132	EXT2	OMIM:133701
HP:0000002	Abnormality of body height	25778	DSTYK	ORPHA:101003
HP:0000002	Abnormality of body height	3291	HSD11B2	ORPHA:320
HP:0000002	Abnormality of body height	3291	HSD11B2	OMIM:218030
HP:0000002	Abnormality of body height	23111	SPART	ORPHA:101000
HP:0000002	Abnormality of body height	23111	SPART	OMIM:275900
HP:0000002	Abnormality of body height	5611	DNAJC3	OMIM:616192
HP:0000002	Abnormality of body height	5611	DNAJC3	ORPHA:445062
HP:0000002	Abnormality of body height	51729	WBP11	OMIM:619227
HP:0000002	Abnormality of body height	2697	GJA1	ORPHA:317
HP:0000002	Abnormality of body height	2697	GJA1	OMIM:257850
HP:0000002	Abnormality of body height	2707	GJB3	ORPHA:317
HP:0000002	Abnormality of body height	2531	KDSR	ORPHA:317
HP:0000002	Abnormality of body height	127534	GJB4	ORPHA:317
HP:0000002	Abnormality of body height	8883	NAE1	OMIM:620210
HP:0000002	Abnormality of body height	55186	SLC25A36	OMIM:620211
HP:0000002	Abnormality of body height	4763	NF1	ORPHA:97685
HP:0000002	Abnormality of body height	4763	NF1	OMIM:193520
HP:0000002	Abnormality of body height	4763	NF1	OMIM:601321
HP:0000002	Abnormality of body height	4763	NF1	ORPHA:638
HP:0000002	Abnormality of body height	4763	NF1	ORPHA:139474
HP:0000002	Abnormality of body height	4763	NF1	ORPHA:363700
HP:0000002	Abnormality of body height	4763	NF1	OMIM:162200
HP:0000002	Abnormality of body height	151516	ASPRV1	ORPHA:313
HP:0000002	Abnormality of body height	242	ALOX12B	ORPHA:313
HP:0000002	Abnormality of body height	242	ALOX12B	ORPHA:79394
HP:0000002	Abnormality of body height	126410	CYP4F22	ORPHA:313
HP:0000002	Abnormality of body height	6820	SULT2B1	ORPHA:313
HP:0000002	Abnormality of body height	26154	ABCA12	ORPHA:313
HP:0000002	Abnormality of body height	26154	ABCA12	ORPHA:79394
HP:0000002	Abnormality of body height	643418	LIPN	ORPHA:313
HP:0000002	Abnormality of body height	59344	ALOXE3	ORPHA:313
HP:0000002	Abnormality of body height	59344	ALOXE3	ORPHA:79394
HP:0000002	Abnormality of body height	348938	NIPAL4	ORPHA:313
HP:0000002	Abnormality of body height	348938	NIPAL4	ORPHA:79394
HP:0000002	Abnormality of body height	121214	SDR9C7	ORPHA:313
HP:0000002	Abnormality of body height	7051	TGM1	ORPHA:313
HP:0000002	Abnormality of body height	7051	TGM1	ORPHA:79394
HP:0000002	Abnormality of body height	2316	FLNA	ORPHA:75497
HP:0000002	Abnormality of body height	2316	FLNA	ORPHA:2301
HP:0000002	Abnormality of body height	2316	FLNA	ORPHA:2484
HP:0000002	Abnormality of body height	2316	FLNA	OMIM:304120
HP:0000002	Abnormality of body height	2316	FLNA	ORPHA:88630
HP:0000002	Abnormality of body height	2316	FLNA	OMIM:311300
HP:0000002	Abnormality of body height	9757	KMT2B	ORPHA:589618
HP:0000002	Abnormality of body height	9757	KMT2B	OMIM:617284
HP:0000002	Abnormality of body height	84265	POLR3GL	OMIM:619234
HP:0000002	Abnormality of body height	54809	SAMD9	OMIM:617053
HP:0000002	Abnormality of body height	134218	DNAJC21	OMIM:617052
HP:0000002	Abnormality of body height	134218	DNAJC21	ORPHA:811
HP:0000002	Abnormality of body height	134218	DNAJC21	OMIM:260400
HP:0000002	Abnormality of body height	29927	SEC61A1	OMIM:617056
HP:0000002	Abnormality of body height	92002	CCNQ	OMIM:300707
HP:0000002	Abnormality of body height	92002	CCNQ	ORPHA:140952
HP:0000002	Abnormality of body height	1041	CDSN	OMIM:270300
HP:0000002	Abnormality of body height	10283	CWC27	ORPHA:166035
HP:0000002	Abnormality of body height	10283	CWC27	OMIM:250410
HP:0000002	Abnormality of body height	8720	MBTPS1	OMIM:618392
HP:0000002	Abnormality of body height	57477	SHROOM4	ORPHA:85288
HP:0000002	Abnormality of body height	1289	COL5A1	OMIM:130000
HP:0000002	Abnormality of body height	23233	EXOC6B	OMIM:618395
HP:0000002	Abnormality of body height	23233	EXOC6B	ORPHA:93359
HP:0000002	Abnormality of body height	8450	CUL4B	ORPHA:85293
HP:0000002	Abnormality of body height	8450	CUL4B	OMIM:300354
HP:0000002	Abnormality of body height	2799	GNS	OMIM:252940
HP:0000002	Abnormality of body height	50964	SOST	OMIM:122860
HP:0000002	Abnormality of body height	50964	SOST	ORPHA:1513
HP:0000002	Abnormality of body height	7169	TPM2	OMIM:108120
HP:0000002	Abnormality of body height	7169	TPM2	ORPHA:1147
HP:0000002	Abnormality of body height	55670	PEX26	ORPHA:772
HP:0000002	Abnormality of body height	55670	PEX26	ORPHA:44
HP:0000002	Abnormality of body height	55670	PEX26	ORPHA:912
HP:0000002	Abnormality of body height	5824	PEX19	ORPHA:772
HP:0000002	Abnormality of body height	5824	PEX19	ORPHA:44
HP:0000002	Abnormality of body height	5824	PEX19	OMIM:614886
HP:0000002	Abnormality of body height	5824	PEX19	ORPHA:912
HP:0000002	Abnormality of body height	5828	PEX2	ORPHA:772
HP:0000002	Abnormality of body height	5828	PEX2	ORPHA:44
HP:0000002	Abnormality of body height	5828	PEX2	ORPHA:912
HP:0000002	Abnormality of body height	8504	PEX3	ORPHA:772
HP:0000002	Abnormality of body height	8504	PEX3	ORPHA:44
HP:0000002	Abnormality of body height	8504	PEX3	ORPHA:912
HP:0000002	Abnormality of body height	9409	PEX16	ORPHA:772
HP:0000002	Abnormality of body height	9409	PEX16	ORPHA:44
HP:0000002	Abnormality of body height	9409	PEX16	ORPHA:912
HP:0000002	Abnormality of body height	5190	PEX6	ORPHA:772
HP:0000002	Abnormality of body height	5190	PEX6	ORPHA:3220
HP:0000002	Abnormality of body height	5190	PEX6	ORPHA:44
HP:0000002	Abnormality of body height	5190	PEX6	ORPHA:912
HP:0000002	Abnormality of body height	8799	PEX11B	ORPHA:772
HP:0000002	Abnormality of body height	8799	PEX11B	ORPHA:44
HP:0000002	Abnormality of body height	8799	PEX11B	ORPHA:912
HP:0000002	Abnormality of body height	5830	PEX5	ORPHA:772
HP:0000002	Abnormality of body height	5830	PEX5	ORPHA:44
HP:0000002	Abnormality of body height	5830	PEX5	OMIM:616716
HP:0000002	Abnormality of body height	5830	PEX5	ORPHA:912
HP:0000002	Abnormality of body height	5189	PEX1	ORPHA:772
HP:0000002	Abnormality of body height	5189	PEX1	ORPHA:3220
HP:0000002	Abnormality of body height	5189	PEX1	ORPHA:44
HP:0000002	Abnormality of body height	5189	PEX1	ORPHA:912
HP:0000002	Abnormality of body height	5193	PEX12	ORPHA:772
HP:0000002	Abnormality of body height	5193	PEX12	ORPHA:44
HP:0000002	Abnormality of body height	5193	PEX12	ORPHA:912
HP:0000002	Abnormality of body height	5194	PEX13	ORPHA:772
HP:0000002	Abnormality of body height	5194	PEX13	ORPHA:44
HP:0000002	Abnormality of body height	5194	PEX13	ORPHA:912
HP:0000002	Abnormality of body height	5195	PEX14	ORPHA:772
HP:0000002	Abnormality of body height	5195	PEX14	ORPHA:44
HP:0000002	Abnormality of body height	5195	PEX14	ORPHA:912
HP:0000002	Abnormality of body height	5192	PEX10	ORPHA:772
HP:0000002	Abnormality of body height	5192	PEX10	ORPHA:44
HP:0000002	Abnormality of body height	5192	PEX10	ORPHA:912
HP:0000002	Abnormality of body height	10084	PQBP1	OMIM:309500
HP:0000002	Abnormality of body height	10084	PQBP1	ORPHA:93950
HP:0000002	Abnormality of body height	10084	PQBP1	ORPHA:93945
HP:0000002	Abnormality of body height	10084	PQBP1	ORPHA:93946
HP:0000002	Abnormality of body height	10084	PQBP1	ORPHA:93947
HP:0000002	Abnormality of body height	8242	KDM5C	ORPHA:85279
HP:0000002	Abnormality of body height	8242	KDM5C	OMIM:300534
HP:0000002	Abnormality of body height	5339	PLEC	OMIM:226670
HP:0000002	Abnormality of body height	89970	RSPRY1	ORPHA:457395
HP:0000002	Abnormality of body height	89970	RSPRY1	OMIM:616723
HP:0000002	Abnormality of body height	51594	NBAS	OMIM:614800
HP:0000002	Abnormality of body height	54187	NANS	OMIM:610442
HP:0000002	Abnormality of body height	84464	SLX4	OMIM:613951
HP:0000002	Abnormality of body height	84464	SLX4	ORPHA:84
HP:0000002	Abnormality of body height	284058	KANSL1	OMIM:610443
HP:0000002	Abnormality of body height	3643	INSR	ORPHA:769
HP:0000002	Abnormality of body height	3643	INSR	OMIM:262190
HP:0000002	Abnormality of body height	64802	NMNAT1	OMIM:619260
HP:0000002	Abnormality of body height	51626	DYNC2LI1	OMIM:617088
HP:0000002	Abnormality of body height	51626	DYNC2LI1	ORPHA:474
HP:0000002	Abnormality of body height	55181	SMG8	OMIM:619268
HP:0000002	Abnormality of body height	2693	GHSR	ORPHA:314811
HP:0000002	Abnormality of body height	2693	GHSR	OMIM:615925
HP:0000002	Abnormality of body height	27445	PCLO	OMIM:608027
HP:0000002	Abnormality of body height	5696	PSMB8	OMIM:256040
HP:0000002	Abnormality of body height	26146	TRAF3IP1	ORPHA:3156
HP:0000002	Abnormality of body height	9657	IQCB1	ORPHA:3156
HP:0000002	Abnormality of body height	10806	SDCCAG8	ORPHA:3156
HP:0000002	Abnormality of body height	10806	SDCCAG8	OMIM:615993
HP:0000002	Abnormality of body height	10806	SDCCAG8	ORPHA:110
HP:0000002	Abnormality of body height	27130	INVS	ORPHA:3156
HP:0000002	Abnormality of body height	80184	CEP290	ORPHA:3156
HP:0000002	Abnormality of body height	80184	CEP290	ORPHA:110
HP:0000002	Abnormality of body height	4867	NPHP1	ORPHA:3156
HP:0000002	Abnormality of body height	4867	NPHP1	ORPHA:110
HP:0000002	Abnormality of body height	261734	NPHP4	ORPHA:3156
HP:0000002	Abnormality of body height	27031	NPHP3	ORPHA:3156
HP:0000002	Abnormality of body height	22897	CEP164	ORPHA:3156
HP:0000002	Abnormality of body height	6657	SOX2	ORPHA:3157
HP:0000002	Abnormality of body height	6657	SOX2	OMIM:206900
HP:0000002	Abnormality of body height	9915	ARNT2	ORPHA:3157
HP:0000002	Abnormality of body height	9915	ARNT2	OMIM:615926
HP:0000002	Abnormality of body height	8820	HESX1	ORPHA:3157
HP:0000002	Abnormality of body height	8820	HESX1	ORPHA:95496
HP:0000002	Abnormality of body height	8820	HESX1	OMIM:182230
HP:0000002	Abnormality of body height	5015	OTX2	ORPHA:3157
HP:0000002	Abnormality of body height	5015	OTX2	OMIM:610125
HP:0000002	Abnormality of body height	5015	OTX2	OMIM:613986
HP:0000002	Abnormality of body height	4053	LTBP2	OMIM:614819
HP:0000002	Abnormality of body height	4053	LTBP2	ORPHA:3449
HP:0000002	Abnormality of body height	374654	KIF7	ORPHA:166024
HP:0000002	Abnormality of body height	374654	KIF7	ORPHA:2754
HP:0000002	Abnormality of body height	128	ADH5	OMIM:619151
HP:0000002	Abnormality of body height	6535	SLC6A8	OMIM:300352
HP:0000002	Abnormality of body height	6535	SLC6A8	ORPHA:52503
HP:0000002	Abnormality of body height	5885	RAD21	OMIM:614701
HP:0000002	Abnormality of body height	5885	RAD21	ORPHA:199
HP:0000002	Abnormality of body height	857	CAV1	OMIM:612526
HP:0000002	Abnormality of body height	6165	RPL35A	OMIM:612528
HP:0000002	Abnormality of body height	6165	RPL35A	ORPHA:124
HP:0000002	Abnormality of body height	6218	RPS17	OMIM:612527
HP:0000002	Abnormality of body height	6218	RPS17	ORPHA:124
HP:0000002	Abnormality of body height	10093	ARPC4	OMIM:620141
HP:0000002	Abnormality of body height	9496	TBX4	ORPHA:238578
HP:0000002	Abnormality of body height	9496	TBX4	ORPHA:261279
HP:0000002	Abnormality of body height	9496	TBX4	OMIM:147891
HP:0000002	Abnormality of body height	613	BCR	ORPHA:261330
HP:0000002	Abnormality of body height	1399	CRKL	ORPHA:261330
HP:0000002	Abnormality of body height	5594	MAPK1	ORPHA:261330
HP:0000002	Abnormality of body height	89910	UBE3B	OMIM:244450
HP:0000002	Abnormality of body height	841	CASP8	OMIM:607271
HP:0000002	Abnormality of body height	55788	LMBRD1	OMIM:277380
HP:0000002	Abnormality of body height	224	ALDH3A2	ORPHA:816
HP:0000002	Abnormality of body height	224	ALDH3A2	OMIM:270200
HP:0000002	Abnormality of body height	2314	FLII	ORPHA:819
HP:0000002	Abnormality of body height	23096	IQSEC2	ORPHA:819
HP:0000002	Abnormality of body height	10743	RAI1	ORPHA:819
HP:0000002	Abnormality of body height	10743	RAI1	ORPHA:1713
HP:0000002	Abnormality of body height	10743	RAI1	OMIM:182290
HP:0000002	Abnormality of body height	10522	DEAF1	ORPHA:819
HP:0000002	Abnormality of body height	4758	NEU1	ORPHA:812
HP:0000002	Abnormality of body height	4758	NEU1	OMIM:256550
HP:0000002	Abnormality of body height	79631	EFL1	ORPHA:811
HP:0000002	Abnormality of body height	79631	EFL1	OMIM:617941
HP:0000002	Abnormality of body height	51119	SBDS	ORPHA:811
HP:0000002	Abnormality of body height	51119	SBDS	OMIM:260400
HP:0000002	Abnormality of body height	56992	KIF15	ORPHA:261323
HP:0000002	Abnormality of body height	4001	LMNB1	OMIM:619179
HP:0000002	Abnormality of body height	4001	LMNB1	ORPHA:2514
HP:0000002	Abnormality of body height	1801	DPH1	OMIM:616901
HP:0000002	Abnormality of body height	1801	DPH1	ORPHA:459061
HP:0000002	Abnormality of body height	412	STS	ORPHA:281090
HP:0000002	Abnormality of body height	55858	TMEM165	OMIM:614727
HP:0000002	Abnormality of body height	80254	CEP63	OMIM:614728
HP:0000002	Abnormality of body height	80254	CEP63	ORPHA:2512
HP:0000002	Abnormality of body height	672	BRCA1	ORPHA:84
HP:0000002	Abnormality of body height	672	BRCA1	OMIM:617883
HP:0000002	Abnormality of body height	10459	MAD2L2	ORPHA:84
HP:0000002	Abnormality of body height	10459	MAD2L2	OMIM:617243
HP:0000002	Abnormality of body height	7516	XRCC2	ORPHA:84
HP:0000002	Abnormality of body height	29089	UBE2T	ORPHA:84
HP:0000002	Abnormality of body height	29089	UBE2T	OMIM:616435
HP:0000002	Abnormality of body height	675	BRCA2	ORPHA:84
HP:0000002	Abnormality of body height	675	BRCA2	OMIM:605724
HP:0000002	Abnormality of body height	55120	FANCL	ORPHA:84
HP:0000002	Abnormality of body height	2177	FANCD2	ORPHA:84
HP:0000002	Abnormality of body height	2177	FANCD2	OMIM:227646
HP:0000002	Abnormality of body height	2175	FANCA	ORPHA:84
HP:0000002	Abnormality of body height	2175	FANCA	OMIM:227650
HP:0000002	Abnormality of body height	2187	FANCB	ORPHA:84
HP:0000002	Abnormality of body height	2176	FANCC	ORPHA:84
HP:0000002	Abnormality of body height	2176	FANCC	OMIM:227645
HP:0000002	Abnormality of body height	2178	FANCE	ORPHA:84
HP:0000002	Abnormality of body height	2178	FANCE	OMIM:600901
HP:0000002	Abnormality of body height	2188	FANCF	ORPHA:84
HP:0000002	Abnormality of body height	2188	FANCF	OMIM:603467
HP:0000002	Abnormality of body height	2189	FANCG	ORPHA:84
HP:0000002	Abnormality of body height	5888	RAD51	ORPHA:84
HP:0000002	Abnormality of body height	5889	RAD51C	ORPHA:84
HP:0000002	Abnormality of body height	5889	RAD51C	OMIM:613390
HP:0000002	Abnormality of body height	55159	RFWD3	ORPHA:84
HP:0000002	Abnormality of body height	83990	BRIP1	ORPHA:84
HP:0000002	Abnormality of body height	57697	FANCM	ORPHA:84
HP:0000002	Abnormality of body height	79728	PALB2	ORPHA:84
HP:0000002	Abnormality of body height	55215	FANCI	ORPHA:84
HP:0000002	Abnormality of body height	55215	FANCI	OMIM:609053
HP:0000002	Abnormality of body height	546	ATRX	ORPHA:847
HP:0000002	Abnormality of body height	546	ATRX	OMIM:309580
HP:0000002	Abnormality of body height	23116	TOGARAM1	OMIM:619185
HP:0000002	Abnormality of body height	9184	BUB3	ORPHA:1052
HP:0000002	Abnormality of body height	699	BUB1	ORPHA:1052
HP:0000002	Abnormality of body height	9319	TRIP13	ORPHA:1052
HP:0000002	Abnormality of body height	9319	TRIP13	OMIM:617598
HP:0000002	Abnormality of body height	701	BUB1B	ORPHA:1052
HP:0000002	Abnormality of body height	701	BUB1B	OMIM:257300
HP:0000002	Abnormality of body height	55148	UBR7	OMIM:619189
HP:0000002	Abnormality of body height	23545	ATP6V0A2	OMIM:278250
HP:0000002	Abnormality of body height	23545	ATP6V0A2	ORPHA:2834
HP:0000002	Abnormality of body height	23545	ATP6V0A2	ORPHA:357074
HP:0000002	Abnormality of body height	25942	SIN3A	OMIM:613406
HP:0000002	Abnormality of body height	25942	SIN3A	ORPHA:94065
HP:0000002	Abnormality of body height	53834	FGFRL1	OMIM:194190
HP:0000002	Abnormality of body height	1487	CTBP1	OMIM:194190
HP:0000002	Abnormality of body height	3954	LETM1	OMIM:194190
HP:0000002	Abnormality of body height	10815	CPLX1	OMIM:194190
HP:0000002	Abnormality of body height	10801	SEPTIN9	OMIM:162100
HP:0000002	Abnormality of body height	10801	SEPTIN9	ORPHA:2901
HP:0000002	Abnormality of body height	7840	ALMS1	ORPHA:64
HP:0000002	Abnormality of body height	7840	ALMS1	OMIM:203800
HP:0000002	Abnormality of body height	7025	NR2F1	ORPHA:401777
HP:0000002	Abnormality of body height	4318	MMP9	ORPHA:1040
HP:0000002	Abnormality of body height	114548	NLRP3	OMIM:191900
HP:0000002	Abnormality of body height	114548	NLRP3	ORPHA:575
HP:0000002	Abnormality of body height	6201	RPS7	OMIM:612563
HP:0000002	Abnormality of body height	6201	RPS7	ORPHA:124
HP:0000002	Abnormality of body height	6091	ROBO1	ORPHA:95496
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:95496
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:220386
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:280200
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:93926
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:93924
HP:0000002	Abnormality of body height	50937	CDON	ORPHA:93925
HP:0000002	Abnormality of body height	23432	GPR161	ORPHA:95496
HP:0000002	Abnormality of body height	11128	POLR3A	OMIM:264090
HP:0000002	Abnormality of body height	11128	POLR3A	OMIM:607694
HP:0000002	Abnormality of body height	11128	POLR3A	ORPHA:3455
HP:0000002	Abnormality of body height	11128	POLR3A	ORPHA:447896
HP:0000002	Abnormality of body height	8085	KMT2D	OMIM:620186
HP:0000002	Abnormality of body height	8085	KMT2D	ORPHA:2322
HP:0000002	Abnormality of body height	8085	KMT2D	OMIM:147920
HP:0000002	Abnormality of body height	10907	TXNL4A	OMIM:608572
HP:0000002	Abnormality of body height	10907	TXNL4A	ORPHA:1200
HP:0000002	Abnormality of body height	55343	SLC35C1	OMIM:266265
HP:0000002	Abnormality of body height	55343	SLC35C1	ORPHA:99843
HP:0000002	Abnormality of body height	3251	HPRT1	OMIM:300322
HP:0000002	Abnormality of body height	4256	MGP	ORPHA:85202
HP:0000002	Abnormality of body height	23261	CAMTA1	OMIM:614756
HP:0000002	Abnormality of body height	6605	SMARCE1	OMIM:616938
HP:0000002	Abnormality of body height	388015	RTL1	ORPHA:96334
HP:0000002	Abnormality of body height	388015	RTL1	ORPHA:96184
HP:0000002	Abnormality of body height	8788	DLK1	ORPHA:96334
HP:0000002	Abnormality of body height	8788	DLK1	ORPHA:96184
HP:0000002	Abnormality of body height	55384	MEG3	ORPHA:96334
HP:0000002	Abnormality of body height	55384	MEG3	ORPHA:96184
HP:0000002	Abnormality of body height	1962	EHHADH	OMIM:615605
HP:0000002	Abnormality of body height	695	BTK	ORPHA:47
HP:0000002	Abnormality of body height	695	BTK	OMIM:307200
HP:0000002	Abnormality of body height	415	ARSL	OMIM:302950
HP:0000002	Abnormality of body height	3977	LIFR	ORPHA:3206
HP:0000002	Abnormality of body height	3977	LIFR	OMIM:601559
HP:0000002	Abnormality of body height	10735	STAG2	ORPHA:521258
HP:0000002	Abnormality of body height	10735	STAG2	ORPHA:220386
HP:0000002	Abnormality of body height	10735	STAG2	ORPHA:93925
HP:0000002	Abnormality of body height	10735	STAG2	OMIM:301022
HP:0000002	Abnormality of body height	6611	SMS	OMIM:309583
HP:0000002	Abnormality of body height	6611	SMS	ORPHA:3063
HP:0000002	Abnormality of body height	545	ATR	ORPHA:808
HP:0000002	Abnormality of body height	1062	CENPE	ORPHA:808
HP:0000002	Abnormality of body height	1062	CENPE	OMIM:616051
HP:0000002	Abnormality of body height	5116	PCNT	ORPHA:808
HP:0000002	Abnormality of body height	79902	NUP85	ORPHA:808
HP:0000002	Abnormality of body height	79902	NUP85	OMIM:618176
HP:0000002	Abnormality of body height	84126	ATRIP	ORPHA:808
HP:0000002	Abnormality of body height	10293	TRAIP	ORPHA:808
HP:0000002	Abnormality of body height	10293	TRAIP	OMIM:616777
HP:0000002	Abnormality of body height	22995	CEP152	ORPHA:808
HP:0000002	Abnormality of body height	22995	CEP152	OMIM:613823
HP:0000002	Abnormality of body height	22995	CEP152	ORPHA:2512
HP:0000002	Abnormality of body height	2961	GTF2E2	OMIM:616943
HP:0000002	Abnormality of body height	84876	ORAI1	ORPHA:3204
HP:0000002	Abnormality of body height	6786	STIM1	ORPHA:3204
HP:0000002	Abnormality of body height	6786	STIM1	OMIM:185070
HP:0000002	Abnormality of body height	6567	SLC16A2	ORPHA:59
HP:0000002	Abnormality of body height	1186	CLCN7	ORPHA:53
HP:0000002	Abnormality of body height	1186	CLCN7	OMIM:618541
HP:0000002	Abnormality of body height	57724	EPG5	ORPHA:1493
HP:0000002	Abnormality of body height	4204	MECP2	OMIM:312750
HP:0000002	Abnormality of body height	4204	MECP2	ORPHA:1762
HP:0000002	Abnormality of body height	4204	MECP2	ORPHA:3077
HP:0000002	Abnormality of body height	196528	ARID2	OMIM:617808
HP:0000002	Abnormality of body height	10535	RNASEH2A	ORPHA:51
HP:0000002	Abnormality of body height	84153	RNASEH2C	ORPHA:51
HP:0000002	Abnormality of body height	25939	SAMHD1	ORPHA:51
HP:0000002	Abnormality of body height	79621	RNASEH2B	ORPHA:51
HP:0000002	Abnormality of body height	103	ADAR	ORPHA:51
HP:0000002	Abnormality of body height	100147744	RNU7-1	ORPHA:51
HP:0000002	Abnormality of body height	134353	LSM11	ORPHA:51
HP:0000002	Abnormality of body height	64135	IFIH1	ORPHA:51
HP:0000002	Abnormality of body height	64135	IFIH1	OMIM:182250
HP:0000002	Abnormality of body height	10075	HUWE1	OMIM:309590
HP:0000002	Abnormality of body height	22856	CHSY1	ORPHA:363417
HP:0000002	Abnormality of body height	26160	IFT172	OMIM:615630
HP:0000002	Abnormality of body height	26160	IFT172	ORPHA:110
HP:0000002	Abnormality of body height	26160	IFT172	ORPHA:474
HP:0000002	Abnormality of body height	84529	CDIN1	OMIM:615631
HP:0000002	Abnormality of body height	2733	GLE1	ORPHA:1486
HP:0000002	Abnormality of body height	29123	ANKRD11	ORPHA:2332
HP:0000002	Abnormality of body height	29123	ANKRD11	OMIM:148050
HP:0000002	Abnormality of body height	9759	HDAC4	ORPHA:1001
HP:0000002	Abnormality of body height	9759	HDAC4	OMIM:600430
HP:0000002	Abnormality of body height	79650	USB1	OMIM:604173
HP:0000002	Abnormality of body height	79650	USB1	ORPHA:1775
HP:0000002	Abnormality of body height	4010	LMX1B	OMIM:161200
HP:0000002	Abnormality of body height	4010	LMX1B	ORPHA:2613
HP:0000002	Abnormality of body height	9150	CTDP1	OMIM:604168
HP:0000002	Abnormality of body height	9150	CTDP1	ORPHA:48431
HP:0000002	Abnormality of body height	473	RERE	OMIM:616975
HP:0000002	Abnormality of body height	473	RERE	ORPHA:1606
HP:0000002	Abnormality of body height	6905	TBCE	ORPHA:2323
HP:0000002	Abnormality of body height	7403	KDM6A	ORPHA:2322
HP:0000002	Abnormality of body height	7403	KDM6A	OMIM:300867
HP:0000002	Abnormality of body height	7403	KDM6A	OMIM:147920
HP:0000002	Abnormality of body height	7200	TRH	OMIM:275120
HP:0000002	Abnormality of body height	54820	NDE1	OMIM:605013
HP:0000002	Abnormality of body height	54820	NDE1	OMIM:614019
HP:0000002	Abnormality of body height	9837	GINS1	OMIM:617827
HP:0000002	Abnormality of body height	4000	LMNA	ORPHA:90153
HP:0000002	Abnormality of body height	4000	LMNA	ORPHA:79474
HP:0000002	Abnormality of body height	10651	MTX2	ORPHA:90153
HP:0000002	Abnormality of body height	10651	MTX2	OMIM:619127
HP:0000002	Abnormality of body height	10269	ZMPSTE24	ORPHA:90154
HP:0000002	Abnormality of body height	5251	PHEX	OMIM:307800
HP:0000002	Abnormality of body height	6638	SNRPN	ORPHA:177904
HP:0000002	Abnormality of body height	6638	SNRPN	ORPHA:177901
HP:0000002	Abnormality of body height	6638	SNRPN	ORPHA:177910
HP:0000002	Abnormality of body height	6638	SNRPN	ORPHA:177907
HP:0000002	Abnormality of body height	6638	SNRPN	ORPHA:98754
HP:0000002	Abnormality of body height	4692	NDN	ORPHA:177904
HP:0000002	Abnormality of body height	4692	NDN	ORPHA:177901
HP:0000002	Abnormality of body height	4692	NDN	ORPHA:177910
HP:0000002	Abnormality of body height	4692	NDN	ORPHA:98754
HP:0000002	Abnormality of body height	4948	OCA2	ORPHA:177904
HP:0000002	Abnormality of body height	4948	OCA2	ORPHA:177901
HP:0000002	Abnormality of body height	4948	OCA2	ORPHA:98754
HP:0000002	Abnormality of body height	1588	CYP19A1	OMIM:139300
HP:0000002	Abnormality of body height	55906	ZC4H2	OMIM:314580
HP:0000002	Abnormality of body height	55906	ZC4H2	OMIM:301041
HP:0000002	Abnormality of body height	10560	SLC19A2	OMIM:249270
HP:0000002	Abnormality of body height	10560	SLC19A2	ORPHA:49827
HP:0000002	Abnormality of body height	2068	ERCC2	ORPHA:1466
HP:0000002	Abnormality of body height	2068	ERCC2	ORPHA:220295
HP:0000002	Abnormality of body height	2068	ERCC2	OMIM:601675
HP:0000002	Abnormality of body height	2068	ERCC2	ORPHA:910
HP:0000002	Abnormality of body height	2067	ERCC1	ORPHA:1466
HP:0000002	Abnormality of body height	2067	ERCC1	OMIM:610758
HP:0000002	Abnormality of body height	2073	ERCC5	ORPHA:1466
HP:0000002	Abnormality of body height	2073	ERCC5	ORPHA:220295
HP:0000002	Abnormality of body height	2073	ERCC5	ORPHA:910
HP:0000002	Abnormality of body height	4358	MPV17	OMIM:256810
HP:0000002	Abnormality of body height	134701	RIPPLY2	ORPHA:2311
HP:0000002	Abnormality of body height	3955	LFNG	ORPHA:2311
HP:0000002	Abnormality of body height	3955	LFNG	OMIM:609813
HP:0000002	Abnormality of body height	84667	HES7	ORPHA:2311
HP:0000002	Abnormality of body height	84667	HES7	OMIM:613686
HP:0000002	Abnormality of body height	79947	DHDDS	OMIM:617836
HP:0000002	Abnormality of body height	79947	DHDDS	ORPHA:442835
HP:0000002	Abnormality of body height	2138	EYA1	ORPHA:2792
HP:0000002	Abnormality of body height	5075	PAX1	ORPHA:2792
HP:0000002	Abnormality of body height	6678	SPARC	OMIM:616507
HP:0000002	Abnormality of body height	10804	GJB6	OMIM:129500
HP:0000002	Abnormality of body height	197131	UBR1	ORPHA:2315
HP:0000002	Abnormality of body height	197131	UBR1	OMIM:243800
HP:0000002	Abnormality of body height	4982	TNFRSF11B	OMIM:239000
HP:0000002	Abnormality of body height	4982	TNFRSF11B	ORPHA:2801
HP:0000002	Abnormality of body height	84188	FAR1	ORPHA:438178
HP:0000002	Abnormality of body height	128637	TBC1D20	OMIM:615663
HP:0000002	Abnormality of body height	128637	TBC1D20	ORPHA:2510
HP:0000002	Abnormality of body height	79827	CLMP	ORPHA:2301
HP:0000002	Abnormality of body height	26227	PHGDH	ORPHA:79351
HP:0000002	Abnormality of body height	2313	FLI1	ORPHA:2308
HP:0000002	Abnormality of body height	760	CA2	ORPHA:2785
HP:0000002	Abnormality of body height	760	CA2	OMIM:259730
HP:0000002	Abnormality of body height	9361	LONP1	ORPHA:1458
HP:0000002	Abnormality of body height	9361	LONP1	OMIM:600373
HP:0000002	Abnormality of body height	64840	PORCN	OMIM:305600
HP:0000002	Abnormality of body height	131669	UROC1	OMIM:276880
HP:0000002	Abnormality of body height	5352	PLOD2	ORPHA:2771
HP:0000002	Abnormality of body height	5352	PLOD2	OMIM:609220
HP:0000002	Abnormality of body height	60681	FKBP10	ORPHA:2771
HP:0000002	Abnormality of body height	60681	FKBP10	OMIM:259450
HP:0000002	Abnormality of body height	60681	FKBP10	OMIM:610968
HP:0000002	Abnormality of body height	8022	LHX3	OMIM:221750
HP:0000002	Abnormality of body height	8022	LHX3	ORPHA:231720
HP:0000002	Abnormality of body height	284252	KCTD1	OMIM:181270
HP:0000002	Abnormality of body height	122553	TRAPPC6B	OMIM:617862
HP:0000002	Abnormality of body height	2893	GRIA4	OMIM:617864
HP:0000002	Abnormality of body height	271	AMPD2	OMIM:615686
HP:0000002	Abnormality of body height	271	AMPD2	ORPHA:401805
HP:0000002	Abnormality of body height	4094	MAF	OMIM:601088
HP:0000002	Abnormality of body height	4094	MAF	ORPHA:1272
HP:0000002	Abnormality of body height	7518	XRCC4	OMIM:616541
HP:0000002	Abnormality of body height	650	BMP2	OMIM:617877
HP:0000002	Abnormality of body height	650	BMP2	ORPHA:261295
HP:0000002	Abnormality of body height	51099	ABHD5	ORPHA:98907
HP:0000002	Abnormality of body height	28514	DLL1	ORPHA:220386
HP:0000002	Abnormality of body height	28514	DLL1	ORPHA:280200
HP:0000002	Abnormality of body height	28514	DLL1	ORPHA:93926
HP:0000002	Abnormality of body height	28514	DLL1	ORPHA:93924
HP:0000002	Abnormality of body height	28514	DLL1	ORPHA:93925
HP:0000002	Abnormality of body height	8243	SMC1A	ORPHA:220386
HP:0000002	Abnormality of body height	8243	SMC1A	OMIM:300590
HP:0000002	Abnormality of body height	8243	SMC1A	ORPHA:199
HP:0000002	Abnormality of body height	6496	SIX3	ORPHA:220386
HP:0000002	Abnormality of body height	6496	SIX3	ORPHA:280200
HP:0000002	Abnormality of body height	6496	SIX3	ORPHA:93926
HP:0000002	Abnormality of body height	6496	SIX3	ORPHA:93924
HP:0000002	Abnormality of body height	6496	SIX3	ORPHA:93925
HP:0000002	Abnormality of body height	7050	TGIF1	ORPHA:220386
HP:0000002	Abnormality of body height	7050	TGIF1	ORPHA:280200
HP:0000002	Abnormality of body height	7050	TGIF1	ORPHA:93926
HP:0000002	Abnormality of body height	7050	TGIF1	ORPHA:93924
HP:0000002	Abnormality of body height	7050	TGIF1	ORPHA:93925
HP:0000002	Abnormality of body height	4838	NODAL	ORPHA:220386
HP:0000002	Abnormality of body height	4838	NODAL	ORPHA:280200
HP:0000002	Abnormality of body height	4838	NODAL	ORPHA:93926
HP:0000002	Abnormality of body height	4838	NODAL	ORPHA:93924
HP:0000002	Abnormality of body height	4838	NODAL	ORPHA:93925
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:220386
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:280200
HP:0000002	Abnormality of body height	6469	SHH	OMIM:147250
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:93926
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:93924
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:93925
HP:0000002	Abnormality of body height	6469	SHH	ORPHA:988
HP:0000002	Abnormality of body height	7546	ZIC2	ORPHA:220386
HP:0000002	Abnormality of body height	7546	ZIC2	ORPHA:280200
HP:0000002	Abnormality of body height	7546	ZIC2	ORPHA:93926
HP:0000002	Abnormality of body height	7546	ZIC2	ORPHA:93924
HP:0000002	Abnormality of body height	7546	ZIC2	ORPHA:93925
HP:0000002	Abnormality of body height	6491	STIL	ORPHA:220386
HP:0000002	Abnormality of body height	6491	STIL	ORPHA:93926
HP:0000002	Abnormality of body height	6491	STIL	ORPHA:93924
HP:0000002	Abnormality of body height	6491	STIL	ORPHA:93925
HP:0000002	Abnormality of body height	6491	STIL	ORPHA:2512
HP:0000002	Abnormality of body height	2619	GAS1	ORPHA:220386
HP:0000002	Abnormality of body height	2619	GAS1	ORPHA:280200
HP:0000002	Abnormality of body height	2619	GAS1	ORPHA:93926
HP:0000002	Abnormality of body height	2619	GAS1	ORPHA:93924
HP:0000002	Abnormality of body height	2619	GAS1	ORPHA:93925
HP:0000002	Abnormality of body height	84976	DISP1	ORPHA:220386
HP:0000002	Abnormality of body height	84976	DISP1	ORPHA:280200
HP:0000002	Abnormality of body height	84976	DISP1	ORPHA:93926
HP:0000002	Abnormality of body height	84976	DISP1	ORPHA:93924
HP:0000002	Abnormality of body height	84976	DISP1	ORPHA:93925
HP:0000002	Abnormality of body height	8928	FOXH1	ORPHA:220386
HP:0000002	Abnormality of body height	8928	FOXH1	ORPHA:280200
HP:0000002	Abnormality of body height	8928	FOXH1	ORPHA:93926
HP:0000002	Abnormality of body height	8928	FOXH1	ORPHA:93924
HP:0000002	Abnormality of body height	8928	FOXH1	ORPHA:93925
HP:0000002	Abnormality of body height	5727	PTCH1	ORPHA:220386
HP:0000002	Abnormality of body height	5727	PTCH1	ORPHA:280200
HP:0000002	Abnormality of body height	5727	PTCH1	ORPHA:93926
HP:0000002	Abnormality of body height	5727	PTCH1	ORPHA:93924
HP:0000002	Abnormality of body height	5727	PTCH1	ORPHA:93925
HP:0000002	Abnormality of body height	57104	PNPLA2	ORPHA:98908
HP:0000002	Abnormality of body height	57104	PNPLA2	OMIM:610717
HP:0000002	Abnormality of body height	2806	GOT2	OMIM:618721
HP:0000002	Abnormality of body height	84700	MYO18B	OMIM:616549
HP:0000002	Abnormality of body height	5449	POU1F1	OMIM:613038
HP:0000002	Abnormality of body height	4750	NEK1	ORPHA:2751
HP:0000002	Abnormality of body height	8086	AAAS	OMIM:231550
HP:0000002	Abnormality of body height	8086	AAAS	ORPHA:869
HP:0000002	Abnormality of body height	10210	TOPORS	ORPHA:2754
HP:0000002	Abnormality of body height	9851	KIAA0753	ORPHA:2754
HP:0000002	Abnormality of body height	9851	KIAA0753	OMIM:619476
HP:0000002	Abnormality of body height	5147	PDE6D	ORPHA:2754
HP:0000002	Abnormality of body height	65250	CPLANE1	ORPHA:2754
HP:0000002	Abnormality of body height	65250	CPLANE1	OMIM:277170
HP:0000002	Abnormality of body height	51259	TMEM216	ORPHA:2754
HP:0000002	Abnormality of body height	8481	OFD1	ORPHA:2754
HP:0000002	Abnormality of body height	8481	OFD1	OMIM:311200
HP:0000002	Abnormality of body height	317662	FAM149B1	ORPHA:2754
HP:0000002	Abnormality of body height	6609	SMPD1	OMIM:607616
HP:0000002	Abnormality of body height	6609	SMPD1	OMIM:257200
HP:0000002	Abnormality of body height	6609	SMPD1	ORPHA:77293
HP:0000002	Abnormality of body height	83452	RAB33B	OMIM:615222
HP:0000002	Abnormality of body height	7471	WNT1	OMIM:615220
HP:0000002	Abnormality of body height	80169	CTC1	OMIM:612199
HP:0000002	Abnormality of body height	80169	CTC1	ORPHA:1775
HP:0000002	Abnormality of body height	8626	TP63	ORPHA:1896
HP:0000002	Abnormality of body height	8626	TP63	OMIM:129400
HP:0000002	Abnormality of body height	10736	SIX2	ORPHA:488437
HP:0000002	Abnormality of body height	4281	MID1	ORPHA:2745
HP:0000002	Abnormality of body height	529	ATP6V1E1	OMIM:617402
HP:0000002	Abnormality of body height	529	ATP6V1E1	ORPHA:357074
HP:0000002	Abnormality of body height	6655	SOS2	OMIM:616559
HP:0000002	Abnormality of body height	6655	SOS2	ORPHA:648
HP:0000002	Abnormality of body height	204219	CERS3	ORPHA:79394
HP:0000002	Abnormality of body height	285848	PNPLA1	ORPHA:79394
HP:0000002	Abnormality of body height	255758	DYNLT2B	OMIM:617405
HP:0000002	Abnormality of body height	246329	STAC3	OMIM:255995
HP:0000002	Abnormality of body height	246329	STAC3	ORPHA:168572
HP:0000002	Abnormality of body height	3762	KCNJ5	ORPHA:37553
HP:0000002	Abnormality of body height	3759	KCNJ2	ORPHA:37553
HP:0000002	Abnormality of body height	3759	KCNJ2	OMIM:170390
HP:0000002	Abnormality of body height	1497	CTNS	OMIM:219800
HP:0000002	Abnormality of body height	10617	STAMBP	OMIM:614261
HP:0000002	Abnormality of body height	8367	H4C5	OMIM:619950
HP:0000002	Abnormality of body height	23417	MLYCD	OMIM:248360
HP:0000002	Abnormality of body height	64682	ANAPC1	OMIM:618625
HP:0000002	Abnormality of body height	64682	ANAPC1	ORPHA:221008
HP:0000002	Abnormality of body height	4047	LSS	ORPHA:2850
HP:0000002	Abnormality of body height	197	AHSG	ORPHA:2850
HP:0000002	Abnormality of body height	3694	ITGB6	ORPHA:2850
HP:0000002	Abnormality of body height	79848	CSPP1	ORPHA:397715
HP:0000002	Abnormality of body height	9786	KIAA0586	ORPHA:397715
HP:0000002	Abnormality of body height	1528	CYB5A	ORPHA:90796
HP:0000002	Abnormality of body height	1586	CYP17A1	ORPHA:90796
HP:0000002	Abnormality of body height	1028	CDKN1C	ORPHA:436144
HP:0000002	Abnormality of body height	526	ATP6V1B2	OMIM:616455
HP:0000002	Abnormality of body height	10730	YME1L1	OMIM:617302
HP:0000002	Abnormality of body height	4286	MITF	OMIM:617306
HP:0000002	Abnormality of body height	7486	WRN	OMIM:277700
HP:0000002	Abnormality of body height	7486	WRN	ORPHA:902
HP:0000002	Abnormality of body height	1584	CYP11B1	ORPHA:90795
HP:0000002	Abnormality of body height	1584	CYP11B1	OMIM:202010
HP:0000002	Abnormality of body height	51684	SUFU	ORPHA:280200
HP:0000002	Abnormality of body height	60561	RINT1	OMIM:618641
HP:0000002	Abnormality of body height	10584	COLEC10	OMIM:248340
HP:0000002	Abnormality of body height	25885	POLR1A	OMIM:616462
HP:0000002	Abnormality of body height	25885	POLR1A	ORPHA:1200
HP:0000002	Abnormality of body height	91869	RFT1	ORPHA:244310
HP:0000002	Abnormality of body height	91869	RFT1	OMIM:612015
HP:0000002	Abnormality of body height	816	CAMK2B	OMIM:617799
HP:0000002	Abnormality of body height	55699	IARS2	ORPHA:436174
HP:0000002	Abnormality of body height	55699	IARS2	OMIM:616007
HP:0000002	Abnormality of body height	79184	BRCC3	ORPHA:280679
HP:0000002	Abnormality of body height	2626	GATA4	ORPHA:251071
HP:0000002	Abnormality of body height	5354	PLP1	ORPHA:280210
HP:0000002	Abnormality of body height	5354	PLP1	OMIM:312080
HP:0000002	Abnormality of body height	1501	CTNND2	ORPHA:281
HP:0000002	Abnormality of body height	9037	SEMA5A	ORPHA:281
HP:0000002	Abnormality of body height	497661	C18orf32	OMIM:619985
HP:0000002	Abnormality of body height	26057	ANKRD17	OMIM:619504
HP:0000002	Abnormality of body height	3737	KCNA2	ORPHA:442835
HP:0000002	Abnormality of body height	1759	DNM1	ORPHA:442835
HP:0000002	Abnormality of body height	8120	AP3B2	ORPHA:442835
HP:0000002	Abnormality of body height	523	ATP6V1A	ORPHA:442835
HP:0000002	Abnormality of body height	523	ATP6V1A	ORPHA:357074
HP:0000002	Abnormality of body height	10991	SLC38A3	ORPHA:442835
HP:0000002	Abnormality of body height	51343	FZR1	ORPHA:442835
HP:0000002	Abnormality of body height	22906	TRAK1	ORPHA:442835
HP:0000002	Abnormality of body height	2566	GABRG2	ORPHA:442835
HP:0000002	Abnormality of body height	1917	EEF1A2	ORPHA:442835
HP:0000002	Abnormality of body height	2561	GABRB2	ORPHA:442835
HP:0000002	Abnormality of body height	8831	SYNGAP1	ORPHA:442835
HP:0000002	Abnormality of body height	7532	YWHAG	ORPHA:442835
HP:0000002	Abnormality of body height	79876	UBA5	ORPHA:442835
HP:0000002	Abnormality of body height	79876	UBA5	OMIM:617132
HP:0000002	Abnormality of body height	6328	SCN3A	ORPHA:442835
HP:0000002	Abnormality of body height	2558	GABRA5	ORPHA:442835
HP:0000002	Abnormality of body height	781	CACNA2D1	ORPHA:442835
HP:0000002	Abnormality of body height	2906	GRIN2D	ORPHA:442835
HP:0000002	Abnormality of body height	116150	NUS1	ORPHA:442835
HP:0000002	Abnormality of body height	10659	CELF2	ORPHA:442835
HP:0000002	Abnormality of body height	774	CACNA1B	ORPHA:442835
HP:0000002	Abnormality of body height	1213	CLTC	ORPHA:442835
HP:0000002	Abnormality of body height	51741	WWOX	ORPHA:442835
HP:0000002	Abnormality of body height	23334	SZT2	ORPHA:442835
HP:0000002	Abnormality of body height	51412	ACTL6B	ORPHA:442835
HP:0000002	Abnormality of body height	348980	HCN1	ORPHA:442835
HP:0000002	Abnormality of body height	6506	SLC1A2	ORPHA:442835
HP:0000002	Abnormality of body height	8867	SYNJ1	ORPHA:442835
HP:0000002	Abnormality of body height	2258	FGF13	ORPHA:442835
HP:0000002	Abnormality of body height	477	ATP1A2	ORPHA:442835
HP:0000002	Abnormality of body height	3745	KCNB1	ORPHA:442835
HP:0000002	Abnormality of body height	284111	SLC13A5	ORPHA:442835
HP:0000002	Abnormality of body height	284111	SLC13A5	ORPHA:1946
HP:0000002	Abnormality of body height	25977	NECAP1	ORPHA:442835
HP:0000002	Abnormality of body height	16	AARS1	ORPHA:442835
HP:0000002	Abnormality of body height	16	AARS1	OMIM:616339
HP:0000002	Abnormality of body height	6334	SCN8A	ORPHA:442835
HP:0000002	Abnormality of body height	22866	CNKSR2	ORPHA:442835
HP:0000002	Abnormality of body height	9568	GABBR2	ORPHA:442835
HP:0000002	Abnormality of body height	2555	GABRA2	ORPHA:442835
HP:0000002	Abnormality of body height	55152	DALRD3	ORPHA:442835
HP:0000002	Abnormality of body height	773	CACNA1A	ORPHA:442835
HP:0000002	Abnormality of body height	26999	CYFIP2	ORPHA:442835
HP:0000002	Abnormality of body height	4915	NTRK2	ORPHA:442835
HP:0000002	Abnormality of body height	25973	PARS2	ORPHA:442835
HP:0000002	Abnormality of body height	23097	CDK19	ORPHA:442835
HP:0000002	Abnormality of body height	64801	ARV1	ORPHA:442835
HP:0000002	Abnormality of body height	2257	FGF12	ORPHA:442835
HP:0000002	Abnormality of body height	5530	PPP3CA	ORPHA:442835
HP:0000002	Abnormality of body height	5530	PPP3CA	OMIM:618265
HP:0000002	Abnormality of body height	5530	PPP3CA	OMIM:617711
HP:0000002	Abnormality of body height	478	ATP1A3	ORPHA:442835
HP:0000002	Abnormality of body height	55623	THUMPD1	OMIM:619989
HP:0000002	Abnormality of body height	3476	IGBP1	ORPHA:52055
HP:0000002	Abnormality of body height	3476	IGBP1	OMIM:300472
HP:0000002	Abnormality of body height	3981	LIG4	ORPHA:235
HP:0000002	Abnormality of body height	54888	NSUN2	ORPHA:235
HP:0000002	Abnormality of body height	54888	NSUN2	OMIM:611091
HP:0000002	Abnormality of body height	253738	EBF3	OMIM:617330
HP:0000002	Abnormality of body height	56006	SMG9	OMIM:619995
HP:0000002	Abnormality of body height	85301	COL27A1	OMIM:615155
HP:0000002	Abnormality of body height	7862	BRPF1	OMIM:617333
HP:0000002	Abnormality of body height	9453	GGPS1	OMIM:619518
HP:0000002	Abnormality of body height	286	ANK1	ORPHA:251066
HP:0000002	Abnormality of body height	554	AVPR2	ORPHA:223
HP:0000002	Abnormality of body height	554	AVPR2	OMIM:304800
HP:0000002	Abnormality of body height	359	AQP2	ORPHA:223
HP:0000002	Abnormality of body height	359	AQP2	OMIM:125800
HP:0000002	Abnormality of body height	26137	ZBTB20	OMIM:259050
HP:0000002	Abnormality of body height	26137	ZBTB20	ORPHA:3042
HP:0000002	Abnormality of body height	7750	ZMYM2	OMIM:619522
HP:0000002	Abnormality of body height	8792	TNFRSF11A	ORPHA:2801
HP:0000002	Abnormality of body height	8792	TNFRSF11A	ORPHA:1782
HP:0000002	Abnormality of body height	57492	ARID1B	ORPHA:251056
HP:0000002	Abnormality of body height	57492	ARID1B	OMIM:135900
HP:0000002	Abnormality of body height	4626	MYH8	OMIM:158300
HP:0000002	Abnormality of body height	4626	MYH8	ORPHA:3377
HP:0000002	Abnormality of body height	3835	KIF22	OMIM:603546
HP:0000002	Abnormality of body height	3835	KIF22	ORPHA:93360
HP:0000002	Abnormality of body height	79989	IFT56	OMIM:619534
HP:0000002	Abnormality of body height	9922	IQSEC1	OMIM:618687
HP:0000002	Abnormality of body height	85365	ALG2	OMIM:607906
HP:0000002	Abnormality of body height	4193	MDM2	OMIM:618681
HP:0000002	Abnormality of body height	84522	JAGN1	OMIM:616022
HP:0000002	Abnormality of body height	57479	PRR12	OMIM:619539
HP:0000002	Abnormality of body height	79977	GRHL2	OMIM:616029
HP:0000002	Abnormality of body height	3172	HNF4A	OMIM:616026
HP:0000002	Abnormality of body height	79641	ROGDI	ORPHA:1946
HP:0000002	Abnormality of body height	29893	PSMC3IP	ORPHA:243
HP:0000002	Abnormality of body height	171568	POLR3H	ORPHA:243
HP:0000002	Abnormality of body height	2516	NR5A1	ORPHA:243
HP:0000002	Abnormality of body height	125150	ZSWIM7	ORPHA:243
HP:0000002	Abnormality of body height	9210	BMP15	ORPHA:243
HP:0000002	Abnormality of body height	23514	SPIDR	ORPHA:243
HP:0000002	Abnormality of body height	2492	FSHR	ORPHA:243
HP:0000002	Abnormality of body height	56945	MRPS22	ORPHA:243
HP:0000002	Abnormality of body height	646	BNC1	ORPHA:243
HP:0000002	Abnormality of body height	10058	ABCB6	ORPHA:241
HP:0000002	Abnormality of body height	6261	RYR1	OMIM:619542
HP:0000002	Abnormality of body height	8621	CDK13	OMIM:617360
HP:0000002	Abnormality of body height	93587	TRMT10A	OMIM:616033
HP:0000002	Abnormality of body height	6654	SOS1	OMIM:610733
HP:0000002	Abnormality of body height	6654	SOS1	ORPHA:648
HP:0000002	Abnormality of body height	8803	SUCLA2	ORPHA:1933
HP:0000002	Abnormality of body height	8803	SUCLA2	OMIM:612073
HP:0000002	Abnormality of body height	2737	GLI3	ORPHA:672
HP:0000002	Abnormality of body height	2737	GLI3	OMIM:146510
HP:0000002	Abnormality of body height	5076	PAX2	ORPHA:97362
HP:0000002	Abnormality of body height	5076	PAX2	OMIM:120330
HP:0000002	Abnormality of body height	5087	PBX1	ORPHA:97362
HP:0000002	Abnormality of body height	10466	COG5	ORPHA:263487
HP:0000002	Abnormality of body height	10466	COG5	OMIM:613612
HP:0000002	Abnormality of body height	6909	TBX2	OMIM:618223
HP:0000002	Abnormality of body height	55628	ZNF407	OMIM:619557
HP:0000002	Abnormality of body height	58484	NLRC4	OMIM:616050
HP:0000002	Abnormality of body height	55869	HDAC8	OMIM:300882
HP:0000002	Abnormality of body height	55869	HDAC8	ORPHA:3459
HP:0000002	Abnormality of body height	55869	HDAC8	ORPHA:199
HP:0000002	Abnormality of body height	1387	CREBBP	ORPHA:353281
HP:0000002	Abnormality of body height	1387	CREBBP	ORPHA:353277
HP:0000002	Abnormality of body height	1387	CREBBP	OMIM:180849
HP:0000002	Abnormality of body height	9342	SNAP29	ORPHA:66631
HP:0000002	Abnormality of body height	79048	SECISBP2	ORPHA:171706
HP:0000002	Abnormality of body height	79048	SECISBP2	OMIM:609698
HP:0000002	Abnormality of body height	23314	SATB2	ORPHA:251019
HP:0000002	Abnormality of body height	23314	SATB2	OMIM:612313
HP:0000002	Abnormality of body height	2033	EP300	ORPHA:353284
HP:0000002	Abnormality of body height	2033	EP300	OMIM:613684
HP:0000002	Abnormality of body height	2033	EP300	OMIM:180849
HP:0000002	Abnormality of body height	26128	KIFBP	ORPHA:66629
HP:0000002	Abnormality of body height	2710	GK	OMIM:307030
HP:0000002	Abnormality of body height	9126	SMC3	OMIM:610759
HP:0000002	Abnormality of body height	9126	SMC3	ORPHA:199
HP:0000002	Abnormality of body height	57551	TAOK1	OMIM:619575
HP:0000002	Abnormality of body height	10940	POP1	OMIM:617396
HP:0000002	Abnormality of body height	56915	EXOSC5	OMIM:619576
HP:0000002	Abnormality of body height	8260	NAA10	OMIM:300855
HP:0000002	Abnormality of body height	8260	NAA10	ORPHA:568
HP:0000002	Abnormality of body height	9820	CUL7	OMIM:273750
HP:0000002	Abnormality of body height	9820	CUL7	ORPHA:2616
HP:0000002	Abnormality of body height	23203	PMPCA	OMIM:213200
HP:0000002	Abnormality of body height	23203	PMPCA	ORPHA:1170
HP:0000002	Abnormality of body height	10483	SEC23B	ORPHA:201
HP:0000002	Abnormality of body height	5728	PTEN	ORPHA:201
HP:0000002	Abnormality of body height	5728	PTEN	ORPHA:79076
HP:0000002	Abnormality of body height	5728	PTEN	ORPHA:109
HP:0000002	Abnormality of body height	6391	SDHC	ORPHA:201
HP:0000002	Abnormality of body height	207	AKT1	ORPHA:201
HP:0000002	Abnormality of body height	205717	USF3	ORPHA:201
HP:0000002	Abnormality of body height	5290	PIK3CA	ORPHA:201
HP:0000002	Abnormality of body height	100144748	KLLN	ORPHA:201
HP:0000002	Abnormality of body height	9451	EIF2AK3	OMIM:226980
HP:0000002	Abnormality of body height	9451	EIF2AK3	ORPHA:1667
HP:0000002	Abnormality of body height	23384	SPECC1L	OMIM:145420
HP:0000002	Abnormality of body height	5573	PRKAR1A	OMIM:101800
HP:0000002	Abnormality of body height	5573	PRKAR1A	ORPHA:950
HP:0000002	Abnormality of body height	4990	SIX6	OMIM:206900
HP:0000002	Abnormality of body height	1300	COL10A1	OMIM:156500
HP:0000002	Abnormality of body height	3975	LHX1	ORPHA:261265
HP:0000002	Abnormality of body height	6928	HNF1B	ORPHA:261265
HP:0000002	Abnormality of body height	29895	MYL11	OMIM:619110
HP:0000002	Abnormality of body height	10847	SRCAP	OMIM:619595
HP:0000002	Abnormality of body height	10847	SRCAP	ORPHA:2044
HP:0000002	Abnormality of body height	10847	SRCAP	OMIM:136140
HP:0000002	Abnormality of body height	400916	CHCHD10	ORPHA:457050
HP:0000002	Abnormality of body height	400916	CHCHD10	OMIM:616209
HP:0000002	Abnormality of body height	6513	SLC2A1	ORPHA:168577
HP:0000002	Abnormality of body height	6513	SLC2A1	OMIM:608885
HP:0000002	Abnormality of body height	79809	TTC21B	OMIM:613819
HP:0000002	Abnormality of body height	79809	TTC21B	ORPHA:474
HP:0000002	Abnormality of body height	22983	MAST1	OMIM:618273
HP:0000002	Abnormality of body height	55755	CDK5RAP2	OMIM:604804
HP:0000002	Abnormality of body height	55755	CDK5RAP2	ORPHA:2512
HP:0000002	Abnormality of body height	28956	LAMTOR2	OMIM:610798
HP:0000002	Abnormality of body height	28956	LAMTOR2	ORPHA:90023
HP:0000002	Abnormality of body height	118924	FRA10AC1	OMIM:620113
HP:0000002	Abnormality of body height	4148	MATN3	OMIM:607078
HP:0000002	Abnormality of body height	4148	MATN3	ORPHA:156728
HP:0000002	Abnormality of body height	9895	TECPR2	ORPHA:320385
HP:0000002	Abnormality of body height	9895	TECPR2	OMIM:615031
HP:0000002	Abnormality of body height	3739	KCNA4	OMIM:618284
HP:0000002	Abnormality of body height	23259	DDHD2	ORPHA:320380
HP:0000002	Abnormality of body height	23259	DDHD2	OMIM:615033
HP:0000002	Abnormality of body height	22800	RRAS2	ORPHA:648
HP:0000002	Abnormality of body height	867	CBL	ORPHA:648
HP:0000002	Abnormality of body height	867	CBL	OMIM:613563
HP:0000002	Abnormality of body height	6016	RIT1	ORPHA:648
HP:0000002	Abnormality of body height	6016	RIT1	OMIM:615355
HP:0000002	Abnormality of body height	6237	RRAS	ORPHA:648
HP:0000002	Abnormality of body height	5894	RAF1	ORPHA:648
HP:0000002	Abnormality of body height	5894	RAF1	OMIM:611554
HP:0000002	Abnormality of body height	5894	RAF1	OMIM:611553
HP:0000002	Abnormality of body height	5894	RAF1	ORPHA:500
HP:0000002	Abnormality of body height	22808	MRAS	ORPHA:648
HP:0000002	Abnormality of body height	22808	MRAS	OMIM:618499
HP:0000002	Abnormality of body height	3845	KRAS	ORPHA:648
HP:0000002	Abnormality of body height	3845	KRAS	OMIM:163200
HP:0000002	Abnormality of body height	3845	KRAS	ORPHA:1340
HP:0000002	Abnormality of body height	3845	KRAS	OMIM:609942
HP:0000002	Abnormality of body height	200734	SPRED2	ORPHA:648
HP:0000002	Abnormality of body height	200734	SPRED2	OMIM:619745
HP:0000002	Abnormality of body height	4893	NRAS	ORPHA:648
HP:0000002	Abnormality of body height	4893	NRAS	OMIM:163200
HP:0000002	Abnormality of body height	4893	NRAS	OMIM:613224
HP:0000002	Abnormality of body height	5781	PTPN11	ORPHA:648
HP:0000002	Abnormality of body height	5781	PTPN11	ORPHA:500
HP:0000002	Abnormality of body height	5781	PTPN11	OMIM:151100
HP:0000002	Abnormality of body height	5781	PTPN11	OMIM:163950
HP:0000002	Abnormality of body height	5922	RASA2	ORPHA:648
HP:0000002	Abnormality of body height	4683	NBN	ORPHA:647
HP:0000002	Abnormality of body height	4683	NBN	OMIM:251260
HP:0000002	Abnormality of body height	4508	MT-ATP6	ORPHA:644
HP:0000002	Abnormality of body height	5257	PHKB	OMIM:261750
HP:0000002	Abnormality of body height	5257	PHKB	ORPHA:79240
HP:0000002	Abnormality of body height	8665	EIF3F	OMIM:618295
HP:0000002	Abnormality of body height	9652	SKIC3	ORPHA:84064
HP:0000002	Abnormality of body height	9652	SKIC3	OMIM:222470
HP:0000002	Abnormality of body height	6499	SKIC2	ORPHA:84064
HP:0000002	Abnormality of body height	8517	IKBKG	OMIM:308300
HP:0000002	Abnormality of body height	8517	IKBKG	ORPHA:464
HP:0000002	Abnormality of body height	121340	SP7	OMIM:613849
HP:0000002	Abnormality of body height	11005	SPINK5	ORPHA:634
HP:0000002	Abnormality of body height	7337	UBE3A	ORPHA:238446
HP:0000002	Abnormality of body height	4621	MYH3	ORPHA:2053
HP:0000002	Abnormality of body height	4621	MYH3	ORPHA:1147
HP:0000002	Abnormality of body height	4621	MYH3	ORPHA:2990
HP:0000002	Abnormality of body height	4621	MYH3	OMIM:618436
HP:0000002	Abnormality of body height	4621	MYH3	OMIM:178110
HP:0000002	Abnormality of body height	259232	NALCN	ORPHA:2053
HP:0000002	Abnormality of body height	259232	NALCN	ORPHA:1147
HP:0000002	Abnormality of body height	259232	NALCN	ORPHA:371364
HP:0000002	Abnormality of body height	10262	SF3B4	OMIM:154400
HP:0000002	Abnormality of body height	9871	SEC24D	ORPHA:2050
HP:0000002	Abnormality of body height	9871	SEC24D	OMIM:616294
HP:0000002	Abnormality of body height	23019	CNOT1	OMIM:619033
HP:0000002	Abnormality of body height	7109	TRAPPC10	OMIM:620027
HP:0000002	Abnormality of body height	7109	TRAPPC10	ORPHA:2512
HP:0000002	Abnormality of body height	10274	STAG1	ORPHA:502434
HP:0000002	Abnormality of body height	1119	CHKA	OMIM:620023
HP:0000002	Abnormality of body height	8496	PPFIBP1	OMIM:620024
HP:0000002	Abnormality of body height	5111	PCNA	OMIM:615919
HP:0000002	Abnormality of body height	5111	PCNA	ORPHA:438134
HP:0000002	Abnormality of body height	2617	GARS1	OMIM:619042
HP:0000002	Abnormality of body height	170302	ARX	OMIM:300004
HP:0000002	Abnormality of body height	170302	ARX	ORPHA:2508
HP:0000002	Abnormality of body height	162	AP1B1	OMIM:242150
HP:0000002	Abnormality of body height	1184	CLCN5	OMIM:300009
HP:0000002	Abnormality of body height	1184	CLCN5	OMIM:300554
HP:0000002	Abnormality of body height	1184	CLCN5	OMIM:308990
HP:0000002	Abnormality of body height	23431	AP4E1	OMIM:613744
HP:0000002	Abnormality of body height	23431	AP4E1	ORPHA:280763
HP:0000002	Abnormality of body height	25782	RAB3GAP2	OMIM:212720
HP:0000002	Abnormality of body height	25782	RAB3GAP2	ORPHA:2510
HP:0000002	Abnormality of body height	25782	RAB3GAP2	ORPHA:1387
HP:0000002	Abnormality of body height	5744	PTHLH	ORPHA:93387
HP:0000002	Abnormality of body height	5744	PTHLH	OMIM:613382
HP:0000002	Abnormality of body height	658	BMPR1B	ORPHA:93384
HP:0000002	Abnormality of body height	658	BMPR1B	ORPHA:93388
HP:0000002	Abnormality of body height	658	BMPR1B	ORPHA:2639
HP:0000002	Abnormality of body height	10472	ZBTB18	ORPHA:36367
HP:0000002	Abnormality of body height	10472	ZBTB18	OMIM:612337
HP:0000002	Abnormality of body height	7298	TYMS	OMIM:620040
HP:0000002	Abnormality of body height	7298	TYMS	ORPHA:1775
HP:0000002	Abnormality of body height	51204	TACO1	OMIM:619052
HP:0000002	Abnormality of body height	28958	COA3	OMIM:619058
HP:0000002	Abnormality of body height	8647	ABCB11	OMIM:601847
HP:0000002	Abnormality of body height	1351	COX8A	OMIM:619059
HP:0000002	Abnormality of body height	9739	SETD1A	OMIM:619056
HP:0000002	Abnormality of body height	340024	SLC6A19	OMIM:234500
HP:0000002	Abnormality of body height	340024	SLC6A19	ORPHA:2116
HP:0000002	Abnormality of body height	3117	HLA-DQA1	OMIM:212750
HP:0000002	Abnormality of body height	3119	HLA-DQB1	OMIM:212750
HP:0000002	Abnormality of body height	8289	ARID1A	OMIM:614607
HP:0000002	Abnormality of body height	7080	NKX2-1	ORPHA:209905
HP:0000002	Abnormality of body height	7080	NKX2-1	ORPHA:95713
HP:0000002	Abnormality of body height	6598	SMARCB1	OMIM:614608
HP:0000002	Abnormality of body height	6597	SMARCA4	OMIM:614609
HP:0000002	Abnormality of body height	1327	COX4I1	OMIM:619060
HP:0000002	Abnormality of body height	54476	RNF216	ORPHA:1173
HP:0000002	Abnormality of body height	4212	MEIS2	OMIM:600987
HP:0000002	Abnormality of body height	4212	MEIS2	ORPHA:261190
HP:0000002	Abnormality of body height	26053	AUTS2	ORPHA:352490
HP:0000002	Abnormality of body height	26053	AUTS2	OMIM:615834
HP:0000002	Abnormality of body height	4697	NDUFA4	OMIM:619065
HP:0000002	Abnormality of body height	4591	TRIM37	OMIM:253250
HP:0000002	Abnormality of body height	4591	TRIM37	ORPHA:2576
HP:0000002	Abnormality of body height	1302	COL11A2	ORPHA:2021
HP:0000002	Abnormality of body height	1302	COL11A2	OMIM:215150
HP:0000002	Abnormality of body height	657	BMPR1A	ORPHA:79076
HP:0000002	Abnormality of body height	10382	TUBB4A	OMIM:612438
HP:0000002	Abnormality of body height	55154	MSTO1	ORPHA:502423
HP:0000002	Abnormality of body height	55154	MSTO1	OMIM:617675
HP:0000002	Abnormality of body height	3265	HRAS	OMIM:218040
HP:0000002	Abnormality of body height	3265	HRAS	OMIM:163200
HP:0000002	Abnormality of body height	3265	HRAS	ORPHA:3071
HP:0000002	Abnormality of body height	6197	RPS6KA3	ORPHA:276630
HP:0000002	Abnormality of body height	6197	RPS6KA3	OMIM:303600
HP:0000002	Abnormality of body height	6197	RPS6KA3	ORPHA:192
HP:0000002	Abnormality of body height	2629	GBA1	OMIM:231000
HP:0000002	Abnormality of body height	2335	FN1	OMIM:184255
HP:0000002	Abnormality of body height	2335	FN1	ORPHA:93315
HP:0000002	Abnormality of body height	1802	DPH2	OMIM:620062
HP:0000002	Abnormality of body height	6521	SLC4A1	OMIM:611590
HP:0000002	Abnormality of body height	6774	STAT3	OMIM:615952
HP:0000002	Abnormality of body height	55027	HEATR3	OMIM:620072
HP:0000002	Abnormality of body height	51611	DPH5	OMIM:620070
HP:0000002	Abnormality of body height	8905	AP1S2	ORPHA:85329
HP:0000002	Abnormality of body height	79813	EHMT1	ORPHA:261652
HP:0000002	Abnormality of body height	58508	KMT2C	ORPHA:261652
HP:0000002	Abnormality of body height	25970	SH2B1	ORPHA:329249
HP:0000002	Abnormality of body height	8838	CCN6	ORPHA:1159
HP:0000002	Abnormality of body height	84919	PPP1R15B	OMIM:616817
HP:0000002	Abnormality of body height	6231	RPS26	OMIM:613309
HP:0000002	Abnormality of body height	6231	RPS26	ORPHA:124
HP:0000002	Abnormality of body height	51085	MLXIPL	OMIM:194050
HP:0000002	Abnormality of body height	51085	MLXIPL	ORPHA:904
HP:0000002	Abnormality of body height	2006	ELN	OMIM:194050
HP:0000002	Abnormality of body height	2006	ELN	ORPHA:904
HP:0000002	Abnormality of body height	3178	HNRNPA1	ORPHA:52430
HP:0000002	Abnormality of body height	7415	VCP	ORPHA:52430
HP:0000002	Abnormality of body height	3181	HNRNPA2B1	ORPHA:52430
HP:0000002	Abnormality of body height	3187	HNRNPH1	OMIM:620083
HP:0000002	Abnormality of body height	4920	ROR2	OMIM:268310
HP:0000002	Abnormality of body height	22880	MORC2	OMIM:619090
HP:0000002	Abnormality of body height	50484	RRM2B	OMIM:268315
HP:0000002	Abnormality of body height	7140	TNNT3	ORPHA:1147
HP:0000002	Abnormality of body height	7136	TNNI2	ORPHA:1147
HP:0000002	Abnormality of body height	7136	TNNI2	OMIM:601680
HP:0000002	Abnormality of body height	5167	ENPP1	OMIM:613312
HP:0000002	Abnormality of body height	5167	ENPP1	ORPHA:289176
HP:0000002	Abnormality of body height	5167	ENPP1	OMIM:208000
HP:0000002	Abnormality of body height	8195	MKKS	ORPHA:2473
HP:0000002	Abnormality of body height	8195	MKKS	ORPHA:110
HP:0000002	Abnormality of body height	51750	RTEL1	ORPHA:3322
HP:0000002	Abnormality of body height	51750	RTEL1	ORPHA:1775
HP:0000002	Abnormality of body height	65057	ACD	ORPHA:3322
HP:0000002	Abnormality of body height	5073	PARN	ORPHA:3322
HP:0000002	Abnormality of body height	5073	PARN	ORPHA:1775
HP:0000002	Abnormality of body height	7015	TERT	ORPHA:3322
HP:0000002	Abnormality of body height	7015	TERT	OMIM:613989
HP:0000002	Abnormality of body height	7015	TERT	ORPHA:1775
HP:0000002	Abnormality of body height	26277	TINF2	ORPHA:3322
HP:0000002	Abnormality of body height	26277	TINF2	OMIM:613990
HP:0000002	Abnormality of body height	26277	TINF2	ORPHA:1775
HP:0000002	Abnormality of body height	1736	DKC1	ORPHA:3322
HP:0000002	Abnormality of body height	1736	DKC1	OMIM:305000
HP:0000002	Abnormality of body height	1736	DKC1	ORPHA:1775
HP:0000002	Abnormality of body height	9775	EIF4A3	OMIM:268305
HP:0000002	Abnormality of body height	29072	SETD2	OMIM:616831
HP:0000002	Abnormality of body height	51025	PAM16	OMIM:613320
HP:0000002	Abnormality of body height	3897	L1CAM	ORPHA:2466
HP:0000002	Abnormality of body height	3897	L1CAM	OMIM:303350
HP:0000002	Abnormality of body height	4352	MPL	ORPHA:3319
HP:0000002	Abnormality of body height	7066	THPO	ORPHA:3319
HP:0000002	Abnormality of body height	84695	LOXL3	ORPHA:250984
HP:0000002	Abnormality of body height	10664	CTCF	OMIM:615502
HP:0000002	Abnormality of body height	6307	MSMO1	OMIM:616834
HP:0000002	Abnormality of body height	55112	DYNC2I1	OMIM:615503
HP:0000002	Abnormality of body height	55112	DYNC2I1	ORPHA:474
HP:0000002	Abnormality of body height	9780	PIEZO1	OMIM:616843
HP:0000002	Abnormality of body height	22845	DOLK	ORPHA:91131
HP:0000002	Abnormality of body height	411	ARSB	OMIM:253200
HP:0000002	Abnormality of body height	10525	HYOU1	OMIM:233600
HP:0000002	Abnormality of body height	55784	MCTP2	ORPHA:1596
HP:0000002	Abnormality of body height	26224	FBXL3	OMIM:606220
HP:0000002	Abnormality of body height	11253	MAN1B1	OMIM:614202
HP:0000002	Abnormality of body height	5925	RB1	ORPHA:1587
HP:0000002	Abnormality of body height	27315	PGAP2	OMIM:614207
HP:0000002	Abnormality of body height	83987	CCDC8	OMIM:614205
HP:0000002	Abnormality of body height	83987	CCDC8	ORPHA:2616
HP:0000002	Abnormality of body height	64093	SMOC1	ORPHA:1106
HP:0000002	Abnormality of body height	80185	TTI2	OMIM:615541
HP:0000002	Abnormality of body height	80185	TTI2	ORPHA:391307
HP:0000002	Abnormality of body height	3758	KCNJ1	OMIM:241200
HP:0000002	Abnormality of body height	547	KIF1A	OMIM:614213
HP:0000002	Abnormality of body height	1001	CDH3	ORPHA:1573
HP:0000002	Abnormality of body height	3418	IDH2	ORPHA:163634
HP:0000002	Abnormality of body height	3417	IDH1	ORPHA:163634
HP:0000002	Abnormality of body height	3417	IDH1	ORPHA:99646
HP:0000002	Abnormality of body height	55644	OSGEP	OMIM:617729
HP:0000002	Abnormality of body height	55644	OSGEP	ORPHA:2065
HP:0000002	Abnormality of body height	112858	TP53RK	OMIM:617730
HP:0000002	Abnormality of body height	112858	TP53RK	ORPHA:2065
HP:0000002	Abnormality of body height	54361	WNT4	ORPHA:247768
HP:0000002	Abnormality of body height	83737	ITCH	OMIM:613385
HP:0000002	Abnormality of body height	4780	NFE2L2	OMIM:617744
HP:0000002	Abnormality of body height	6569	SLC34A1	OMIM:613388
HP:0000002	Abnormality of body height	6569	SLC34A1	ORPHA:157215
HP:0000002	Abnormality of body height	2071	ERCC3	ORPHA:220295
HP:0000002	Abnormality of body height	2071	ERCC3	OMIM:616390
HP:0000002	Abnormality of body height	2071	ERCC3	OMIM:610651
HP:0000002	Abnormality of body height	2071	ERCC3	ORPHA:910
HP:0000002	Abnormality of body height	9215	LARGE1	OMIM:608840
HP:0000002	Abnormality of body height	3756	KCNH1	ORPHA:420561
HP:0000002	Abnormality of body height	10717	AP4B1	ORPHA:280763
HP:0000002	Abnormality of body height	10717	AP4B1	OMIM:614066
HP:0000002	Abnormality of body height	9179	AP4M1	ORPHA:280763
HP:0000002	Abnormality of body height	11154	AP4S1	ORPHA:280763
HP:0000002	Abnormality of body height	11154	AP4S1	OMIM:614067
HP:0000002	Abnormality of body height	2186	BPTF	OMIM:617755
HP:0000002	Abnormality of body height	2990	GUSB	OMIM:253220
HP:0000002	Abnormality of body height	23404	EXOSC2	OMIM:617763
HP:0000002	Abnormality of body height	55331	ACER3	OMIM:617762
HP:0000002	Abnormality of body height	92935	MARS2	OMIM:616430
HP:0000002	Abnormality of body height	7043	TGFB3	OMIM:615582
HP:0000002	Abnormality of body height	22827	PUF60	OMIM:615583
HP:0000002	Abnormality of body height	22827	PUF60	ORPHA:508498
HP:0000002	Abnormality of body height	22827	PUF60	ORPHA:508488
HP:0000002	Abnormality of body height	8074	FGF23	OMIM:193100
HP:0000002	Abnormality of body height	5238	PGM3	ORPHA:443811
HP:0000002	Abnormality of body height	4897	NRCAM	OMIM:619833
HP:0000002	Abnormality of body height	6662	SOX9	ORPHA:140
HP:0000002	Abnormality of body height	23498	HAAO	OMIM:617660
HP:0000002	Abnormality of body height	9578	CDC42BPB	OMIM:619841
HP:0000002	Abnormality of body height	64412	GZF1	OMIM:617662
HP:0000002	Abnormality of body height	1841	DTYMK	OMIM:619847
HP:0000002	Abnormality of body height	3149	HMGB3	OMIM:300915
HP:0000002	Abnormality of body height	3716	JAK1	OMIM:618999
HP:0000002	Abnormality of body height	57082	KNL1	OMIM:604321
HP:0000002	Abnormality of body height	57082	KNL1	ORPHA:2512
HP:0000002	Abnormality of body height	9723	SEMA3E	ORPHA:138
HP:0000002	Abnormality of body height	29957	SLC25A24	ORPHA:2963
HP:0000002	Abnormality of body height	29957	SLC25A24	ORPHA:2095
HP:0000002	Abnormality of body height	29957	SLC25A24	OMIM:612289
HP:0000002	Abnormality of body height	818	CAMK2G	OMIM:618522
HP:0000002	Abnormality of body height	10606	PAICS	OMIM:619859
HP:0000002	Abnormality of body height	64359	NXN	OMIM:618529
HP:0000002	Abnormality of body height	9968	MED12	ORPHA:93932
HP:0000002	Abnormality of body height	9968	MED12	OMIM:305450
HP:0000002	Abnormality of body height	9968	MED12	OMIM:301068
HP:0000002	Abnormality of body height	7994	KAT6A	ORPHA:457193
HP:0000002	Abnormality of body height	5139	PDE3A	OMIM:112410
HP:0000002	Abnormality of body height	5139	PDE3A	ORPHA:1276
HP:0000002	Abnormality of body height	10484	SEC23A	OMIM:607812
HP:0000002	Abnormality of body height	10484	SEC23A	ORPHA:50814
HP:0000002	Abnormality of body height	8550	MAPKAPK5	OMIM:619869
HP:0000002	Abnormality of body height	23007	PLCH1	ORPHA:93925
HP:0000002	Abnormality of body height	4645	MYO5B	OMIM:619868
HP:0000002	Abnormality of body height	81794	ADAMTS10	OMIM:277600
HP:0000002	Abnormality of body height	81794	ADAMTS10	ORPHA:3449
HP:0000002	Abnormality of body height	92482	BBIP1	ORPHA:110
HP:0000002	Abnormality of body height	11020	IFT27	ORPHA:110
HP:0000002	Abnormality of body height	582	BBS1	ORPHA:110
HP:0000002	Abnormality of body height	49855	SCAPER	ORPHA:110
HP:0000002	Abnormality of body height	51057	WDPCP	ORPHA:110
HP:0000002	Abnormality of body height	27241	BBS9	ORPHA:110
HP:0000002	Abnormality of body height	84984	CEP19	ORPHA:110
HP:0000002	Abnormality of body height	22954	TRIM32	ORPHA:110
HP:0000002	Abnormality of body height	54903	MKS1	ORPHA:110
HP:0000002	Abnormality of body height	79738	BBS10	ORPHA:110
HP:0000002	Abnormality of body height	123016	TTC8	ORPHA:110
HP:0000002	Abnormality of body height	583	BBS2	ORPHA:110
HP:0000002	Abnormality of body height	585	BBS4	ORPHA:110
HP:0000002	Abnormality of body height	54585	LZTFL1	ORPHA:110
HP:0000002	Abnormality of body height	55212	BBS7	ORPHA:110
HP:0000002	Abnormality of body height	166379	BBS12	ORPHA:110
HP:0000002	Abnormality of body height	157657	CFAP418	ORPHA:110
HP:0000002	Abnormality of body height	84100	ARL6	ORPHA:110
HP:0000002	Abnormality of body height	129880	BBS5	ORPHA:110
HP:0000002	Abnormality of body height	80173	IFT74	ORPHA:110
HP:0000002	Abnormality of body height	402381	SOHLH1	OMIM:617690
HP:0000002	Abnormality of body height	3590	IL11RA	OMIM:614188
HP:0000002	Abnormality of body height	23126	POGZ	OMIM:616364
HP:0000002	Abnormality of body height	23126	POGZ	ORPHA:468678
HP:0000002	Abnormality of body height	55773	TBC1D23	OMIM:617695
HP:0000002	Abnormality of body height	1594	CYP27B1	ORPHA:289157
HP:0000002	Abnormality of body height	120227	CYP2R1	ORPHA:289157
HP:0000002	Abnormality of body height	8558	CDK10	OMIM:617694
HP:0000002	Abnormality of body height	3098	HK1	OMIM:618547
HP:0000002	Abnormality of body height	5590	PRKCZ	ORPHA:1606
HP:0000002	Abnormality of body height	2563	GABRD	ORPHA:1606
HP:0000002	Abnormality of body height	23013	SPEN	ORPHA:1606
HP:0000002	Abnormality of body height	8510	MMP23B	ORPHA:1606
HP:0000002	Abnormality of body height	7798	LUZP1	ORPHA:1606
HP:0000002	Abnormality of body height	6497	SKI	ORPHA:1606
HP:0000002	Abnormality of body height	10630	PDPN	ORPHA:1606
HP:0000002	Abnormality of body height	10277	UBE4B	ORPHA:1606
HP:0000002	Abnormality of body height	8514	KCNAB2	ORPHA:1606
HP:0000002	Abnormality of body height	63976	PRDM16	ORPHA:1606
HP:0000002	Abnormality of body height	54897	CASZ1	ORPHA:1606
HP:0000002	Abnormality of body height	285362	SUMF1	ORPHA:585
HP:0000002	Abnormality of body height	285362	SUMF1	OMIM:272200
HP:0000002	Abnormality of body height	472	ATM	ORPHA:100
HP:0000002	Abnormality of body height	472	ATM	OMIM:208900
HP:0000002	Abnormality of body height	79633	FAT4	ORPHA:314679
HP:0000002	Abnormality of body height	8642	DCHS1	ORPHA:314679
HP:0000002	Abnormality of body height	1758	DMP1	ORPHA:289176
HP:0000002	Abnormality of body height	57679	ALS2	OMIM:205100
HP:0000002	Abnormality of body height	84295	PHF6	ORPHA:127
HP:0000002	Abnormality of body height	84295	PHF6	OMIM:301900
HP:0000002	Abnormality of body height	6135	RPL11	ORPHA:124
HP:0000002	Abnormality of body height	6138	RPL15	ORPHA:124
HP:0000002	Abnormality of body height	6229	RPS24	ORPHA:124
HP:0000002	Abnormality of body height	6125	RPL5	ORPHA:124
HP:0000002	Abnormality of body height	6204	RPS10	ORPHA:124
HP:0000002	Abnormality of body height	6224	RPS20	ORPHA:124
HP:0000002	Abnormality of body height	2623	GATA1	ORPHA:124
HP:0000002	Abnormality of body height	2623	GATA1	OMIM:190685
HP:0000002	Abnormality of body height	6223	RPS19	ORPHA:124
HP:0000002	Abnormality of body height	6223	RPS19	OMIM:105650
HP:0000002	Abnormality of body height	6232	RPS27	ORPHA:124
HP:0000002	Abnormality of body height	11224	RPL35	ORPHA:124
HP:0000002	Abnormality of body height	6160	RPL31	ORPHA:124
HP:0000002	Abnormality of body height	6155	RPL27	ORPHA:124
HP:0000002	Abnormality of body height	6154	RPL26	ORPHA:124
HP:0000002	Abnormality of body height	6154	RPL26	OMIM:614900
HP:0000002	Abnormality of body height	6210	RPS15A	ORPHA:124
HP:0000002	Abnormality of body height	90121	TSR2	ORPHA:124
HP:0000002	Abnormality of body height	6141	RPL18	ORPHA:124
HP:0000002	Abnormality of body height	6235	RPS29	ORPHA:124
HP:0000002	Abnormality of body height	6234	RPS28	ORPHA:124
HP:0000002	Abnormality of body height	6234	RPS28	OMIM:606164
HP:0000002	Abnormality of body height	51816	ADA2	ORPHA:124
HP:0000002	Abnormality of body height	404672	GTF2H5	OMIM:616395
HP:0000002	Abnormality of body height	205327	C2orf69	OMIM:619423
HP:0000002	Abnormality of body height	26173	INTS1	OMIM:618571
HP:0000002	Abnormality of body height	9427	ECEL1	OMIM:615065
HP:0000002	Abnormality of body height	55656	INTS8	OMIM:618572
HP:0000002	Abnormality of body height	55151	TMEM38B	OMIM:615066
HP:0000002	Abnormality of body height	7201	TRHR	OMIM:618573
HP:0000002	Abnormality of body height	165918	RNF168	OMIM:611943
HP:0000002	Abnormality of body height	165918	RNF168	ORPHA:420741
HP:0000002	Abnormality of body height	9949	AMMECR1	OMIM:300990
HP:0000002	Abnormality of body height	4558	MT-TF	ORPHA:551
HP:0000002	Abnormality of body height	4558	MT-TF	ORPHA:550
HP:0000002	Abnormality of body height	4567	MT-TL1	ORPHA:551
HP:0000002	Abnormality of body height	4567	MT-TL1	ORPHA:550
HP:0000002	Abnormality of body height	4549	MT-RNR1	ORPHA:551
HP:0000002	Abnormality of body height	4574	MT-TS1	ORPHA:551
HP:0000002	Abnormality of body height	4574	MT-TS1	ORPHA:550
HP:0000002	Abnormality of body height	4575	MT-TS2	ORPHA:551
HP:0000002	Abnormality of body height	4575	MT-TS2	ORPHA:550
HP:0000002	Abnormality of body height	4571	MT-TP	ORPHA:551
HP:0000002	Abnormality of body height	4572	MT-TQ	ORPHA:551
HP:0000002	Abnormality of body height	4572	MT-TQ	ORPHA:550
HP:0000002	Abnormality of body height	4540	MT-ND5	ORPHA:551
HP:0000002	Abnormality of body height	4540	MT-ND5	ORPHA:550
HP:0000002	Abnormality of body height	4566	MT-TK	ORPHA:551
HP:0000002	Abnormality of body height	4564	MT-TH	ORPHA:551
HP:0000002	Abnormality of body height	4564	MT-TH	ORPHA:550
HP:0000002	Abnormality of body height	4512	MT-CO1	ORPHA:550
HP:0000002	Abnormality of body height	4513	MT-CO2	ORPHA:550
HP:0000002	Abnormality of body height	4514	MT-CO3	ORPHA:550
HP:0000002	Abnormality of body height	4578	MT-TW	ORPHA:550
HP:0000002	Abnormality of body height	4541	MT-ND6	ORPHA:550
HP:0000002	Abnormality of body height	4535	MT-ND1	ORPHA:550
HP:0000002	Abnormality of body height	4538	MT-ND4	ORPHA:550
HP:0000002	Abnormality of body height	6134	RPL10	OMIM:300998
HP:0000002	Abnormality of body height	56896	DPYSL5	OMIM:619435
HP:0000002	Abnormality of body height	1859	DYRK1A	ORPHA:268261
HP:0000002	Abnormality of body height	1859	DYRK1A	OMIM:614104
HP:0000002	Abnormality of body height	6418	SET	OMIM:618106
HP:0000002	Abnormality of body height	7707	ZNF148	OMIM:617260
HP:0000002	Abnormality of body height	3778	KCNMA1	OMIM:618596
HP:0000002	Abnormality of body height	23729	SHPK	ORPHA:440713
HP:0000002	Abnormality of body height	4952	OCRL	ORPHA:534
HP:0000002	Abnormality of body height	4952	OCRL	OMIM:300555
HP:0000002	Abnormality of body height	4952	OCRL	OMIM:309000
HP:0000002	Abnormality of body height	56975	FAM20C	OMIM:259775
HP:0000002	Abnormality of body height	79158	GNPTAB	ORPHA:576
HP:0000002	Abnormality of body height	79158	GNPTAB	OMIM:252600
HP:0000002	Abnormality of body height	4784	NFIX	OMIM:602535
HP:0000002	Abnormality of body height	55250	ELP2	OMIM:617270
HP:0000002	Abnormality of body height	3039	HBA1	ORPHA:98791
HP:0000002	Abnormality of body height	3040	HBA2	ORPHA:98791
HP:0000002	Abnormality of body height	2735	GLI1	OMIM:618123
HP:0000002	Abnormality of body height	8888	MCM3AP	OMIM:618124
HP:0000002	Abnormality of body height	51132	RLIM	OMIM:300978
HP:0000002	Abnormality of body height	513	ATP5F1D	OMIM:618120
HP:0000002	Abnormality of body height	1312	COMT	ORPHA:567
HP:0000002	Abnormality of body height	221037	JMJD1C	ORPHA:567
HP:0000002	Abnormality of body height	2812	GP1BB	ORPHA:567
HP:0000002	Abnormality of body height	6239	RREB1	ORPHA:567
HP:0000002	Abnormality of body height	6899	TBX1	ORPHA:567
HP:0000002	Abnormality of body height	6899	TBX1	OMIM:192430
HP:0000002	Abnormality of body height	6899	TBX1	OMIM:188400
HP:0000002	Abnormality of body height	7290	HIRA	ORPHA:567
HP:0000002	Abnormality of body height	9632	SEC24C	ORPHA:567
HP:0000002	Abnormality of body height	7353	UFD1	ORPHA:567
HP:0000002	Abnormality of body height	421	ARVCF	ORPHA:567
HP:0000002	Abnormality of body height	3858	KRT10	OMIM:609165
HP:0000002	Abnormality of body height	54880	BCOR	ORPHA:568
HP:0000002	Abnormality of body height	54880	BCOR	OMIM:300166
HP:0000002	Abnormality of body height	6557	SLC12A1	OMIM:601678
HP:0000002	Abnormality of body height	633	BGN	OMIM:300989
HP:0000002	Abnormality of body height	146206	CARMIL2	OMIM:618131
HP:0000002	Abnormality of body height	3188	HNRNPH2	OMIM:300986
HP:0000002	Abnormality of body height	4613	MYCN	ORPHA:391641
HP:0000002	Abnormality of body height	57187	THOC2	OMIM:300957
HP:0000002	Abnormality of body height	57187	THOC2	ORPHA:457240
HP:0000002	Abnormality of body height	10526	IPO8	OMIM:619472
HP:0000002	Abnormality of body height	2892	GRIA3	ORPHA:364028
HP:0000002	Abnormality of body height	2892	GRIA3	OMIM:300699
HP:0000002	Abnormality of body height	7737	RNF113A	OMIM:300953
HP:0000002	Abnormality of body height	4361	MRE11	ORPHA:251347
HP:0000002	Abnormality of body height	64327	LMBR1	ORPHA:988
HP:0000002	Abnormality of body height	9060	PAPSS2	OMIM:612847
HP:0000002	Abnormality of body height	673	BRAF	ORPHA:500
HP:0000002	Abnormality of body height	673	BRAF	OMIM:613707
HP:0000002	Abnormality of body height	673	BRAF	OMIM:613706
HP:0000002	Abnormality of body height	673	BRAF	OMIM:115150
HP:0000002	Abnormality of body height	673	BRAF	ORPHA:1340
HP:0000002	Abnormality of body height	673	BRAF	OMIM:163950
HP:0000002	Abnormality of body height	25839	COG4	OMIM:618150
HP:0000002	Abnormality of body height	25839	COG4	ORPHA:85172
HP:0000002	Abnormality of body height	8567	MADD	OMIM:619004
HP:0000002	Abnormality of body height	2760	GM2A	ORPHA:309246
HP:0000002	Abnormality of body height	60676	PAPPA2	OMIM:619489
HP:0000002	Abnormality of body height	8239	USP9X	OMIM:300968
HP:0000002	Abnormality of body height	8239	USP9X	ORPHA:480880
HP:0000002	Abnormality of body height	2628	GATM	OMIM:134600
HP:0000002	Abnormality of body height	2998	GYS2	ORPHA:2089
HP:0000002	Abnormality of body height	407975	MIR17HG	ORPHA:391646
HP:0000002	Abnormality of body height	55599	RNPC3	OMIM:618160
HP:0000002	Abnormality of body height	5317	PKP1	ORPHA:158668
HP:0000002	Abnormality of body height	7157	TP53	OMIM:618165
HP:0000002	Abnormality of body height	2193	FARSA	OMIM:619013
HP:0000002	Abnormality of body height	203190	LGI3	OMIM:620007
HP:0000002	Abnormality of body height	9897	WASHC5	ORPHA:7
HP:0000002	Abnormality of body height	28952	CCDC22	ORPHA:7
HP:0000002	Abnormality of body height	64432	MRPS25	OMIM:619025
HP:0000002	Abnormality of body height	1496	CTNNA2	OMIM:618174
HP:0000002	Abnormality of body height	84168	ANTXR1	ORPHA:2067
HP:0000002	Abnormality of body height	51002	TPRKB	ORPHA:2065
HP:0000002	Abnormality of body height	84942	WDR73	ORPHA:2065
HP:0000002	Abnormality of body height	84942	WDR73	OMIM:251300
HP:0000002	Abnormality of body height	55746	NUP133	ORPHA:2065
HP:0000002	Abnormality of body height	8270	LAGE3	ORPHA:2065
HP:0000002	Abnormality of body height	8270	LAGE3	OMIM:301006
HP:0000002	Abnormality of body height	26276	VPS33B	OMIM:620010
HP:0000002	Abnormality of body height	7355	SLC35A2	ORPHA:356961
HP:0000002	Abnormality of body height	123263	MTFMT	OMIM:614947
HP:0000002	Abnormality of body height	9839	ZEB2	OMIM:235730
HP:0000002	Abnormality of body height	9839	ZEB2	ORPHA:261552
HP:0000002	Abnormality of body height	9839	ZEB2	ORPHA:261537
HP:0000002	Abnormality of body height	2542	SLC37A4	OMIM:232220
HP:0000002	Abnormality of body height	2542	SLC37A4	ORPHA:79259
HP:0000002	Abnormality of body height	51506	UFC1	OMIM:618076
HP:0000002	Abnormality of body height	80055	PGAP1	OMIM:615802
HP:0000002	Abnormality of body height	10225	CD96	OMIM:211750
HP:0000002	Abnormality of body height	10225	CD96	ORPHA:1308
HP:0000002	Abnormality of body height	1763	DNA2	OMIM:615807
HP:0000002	Abnormality of body height	3766	KCNJ10	OMIM:612780
HP:0000002	Abnormality of body height	80204	FBXO11	OMIM:618089
HP:0000002	Abnormality of body height	50814	NSDHL	OMIM:308050
HP:0000002	Abnormality of body height	2538	G6PC1	OMIM:232200
HP:0000002	Abnormality of body height	3953	LEPR	OMIM:614963
HP:0000002	Abnormality of body height	23325	WASHC4	OMIM:615817
HP:0000002	Abnormality of body height	57531	HACE1	ORPHA:464282
HP:0000002	Abnormality of body height	57531	HACE1	OMIM:616756
HP:0000002	Abnormality of body height	9896	FIG4	ORPHA:3472
HP:0000002	Abnormality of body height	55697	VAC14	ORPHA:3472
HP:0000002	Abnormality of body height	7156	TOP3A	OMIM:618097
HP:0000002	Abnormality of body height	7020	TFAP2A	ORPHA:1297
HP:0000002	Abnormality of body height	3425	IDUA	OMIM:607014
HP:0000002	Abnormality of body height	3425	IDUA	OMIM:607015
HP:0000002	Abnormality of body height	3425	IDUA	ORPHA:93473
HP:0000002	Abnormality of body height	3425	IDUA	ORPHA:93476
HP:0000002	Abnormality of body height	3192	HNRNPU	ORPHA:238769
HP:0000002	Abnormality of body height	2903	GRIN2A	OMIM:245570
HP:0000002	Abnormality of body height	2903	GRIN2A	ORPHA:289266
HP:0000002	Abnormality of body height	5063	PAK3	OMIM:300558
HP:0000002	Abnormality of body height	10056	FARSB	OMIM:613658
HP:0000002	Abnormality of body height	3748	KCNC3	ORPHA:98768
HP:0000002	Abnormality of body height	54499	TMCO1	OMIM:213980
HP:0000002	Abnormality of body height	54499	TMCO1	ORPHA:1394
HP:0000002	Abnormality of body height	10436	EMG1	ORPHA:1270
HP:0000002	Abnormality of body height	81887	LAS1L	ORPHA:3459
HP:0000002	Abnormality of body height	5422	POLA1	ORPHA:163976
HP:0000002	Abnormality of body height	5422	POLA1	OMIM:301030
HP:0000002	Abnormality of body height	10661	KLF1	OMIM:613673
HP:0000002	Abnormality of body height	57393	CLTRN	ORPHA:2116
HP:0000002	Abnormality of body height	55275	VPS53	OMIM:615851
HP:0000002	Abnormality of body height	64116	SLC39A8	ORPHA:468699
HP:0000002	Abnormality of body height	64116	SLC39A8	OMIM:616721
HP:0000002	Abnormality of body height	28962	OSTM1	OMIM:259720
HP:0000002	Abnormality of body height	355	FAS	ORPHA:3437
HP:0000002	Abnormality of body height	26191	PTPN22	ORPHA:3437
HP:0000002	Abnormality of body height	6664	SOX11	OMIM:615866
HP:0000002	Abnormality of body height	91949	COG7	OMIM:608779
HP:0000002	Abnormality of body height	2245	FGD1	OMIM:305400
HP:0000002	Abnormality of body height	2245	FGD1	ORPHA:915
HP:0000002	Abnormality of body height	124997	WDR81	OMIM:610185
HP:0000002	Abnormality of body height	124997	WDR81	ORPHA:1766
HP:0000002	Abnormality of body height	23028	KDM1A	OMIM:616728
HP:0000002	Abnormality of body height	55593	OTUD5	OMIM:301056
HP:0000002	Abnormality of body height	4854	NOTCH3	OMIM:130720
HP:0000002	Abnormality of body height	10982	MAPRE2	OMIM:616734
HP:0000002	Abnormality of body height	10982	MAPRE2	ORPHA:2505
HP:0000002	Abnormality of body height	1911	PHC1	OMIM:615414
HP:0000002	Abnormality of body height	1911	PHC1	ORPHA:2512
HP:0000002	Abnormality of body height	2917	GRM7	OMIM:618922
HP:0000002	Abnormality of body height	60	ACTB	ORPHA:79107
HP:0000002	Abnormality of body height	60	ACTB	OMIM:243310
HP:0000002	Abnormality of body height	8471	IRS4	OMIM:301035
HP:0000002	Abnormality of body height	25	ABL1	OMIM:617602
HP:0000002	Abnormality of body height	79415	CYBC1	OMIM:618935
HP:0000002	Abnormality of body height	29980	DONSON	OMIM:617604
HP:0000002	Abnormality of body height	9343	EFTUD2	ORPHA:79113
HP:0000002	Abnormality of body height	9343	EFTUD2	OMIM:610536
HP:0000002	Abnormality of body height	23476	BRD4	ORPHA:199
HP:0000002	Abnormality of body height	157680	VPS13B	ORPHA:193
HP:0000002	Abnormality of body height	157680	VPS13B	OMIM:216550
HP:0000002	Abnormality of body height	71	ACTG1	OMIM:614583
HP:0000002	Abnormality of body height	2517	FUCA1	OMIM:230000
HP:0000002	Abnormality of body height	9894	TELO2	ORPHA:488642
HP:0000002	Abnormality of body height	259266	ASPM	OMIM:608716
HP:0000002	Abnormality of body height	259266	ASPM	ORPHA:2512
HP:0000002	Abnormality of body height	23247	KATNIP	OMIM:616784
HP:0000002	Abnormality of body height	1804	DPP6	ORPHA:2514
HP:0000002	Abnormality of body height	1804	DPP6	OMIM:616311
HP:0000002	Abnormality of body height	8192	CLPP	OMIM:614129
HP:0000002	Abnormality of body height	85378	TUBGCP6	ORPHA:2518
HP:0000002	Abnormality of body height	85378	TUBGCP6	OMIM:251270
HP:0000002	Abnormality of body height	27229	TUBGCP4	ORPHA:2518
HP:0000002	Abnormality of body height	1146	CHRNG	ORPHA:2990
HP:0000002	Abnormality of body height	1146	CHRNG	OMIM:265000
HP:0000002	Abnormality of body height	9939	RBM8A	OMIM:274000
HP:0000002	Abnormality of body height	22931	RAB18	ORPHA:2510
HP:0000002	Abnormality of body height	5286	PIK3C2A	ORPHA:557003
HP:0000002	Abnormality of body height	5286	PIK3C2A	OMIM:618440
HP:0000002	Abnormality of body height	11113	CIT	ORPHA:2512
HP:0000002	Abnormality of body height	11113	CIT	OMIM:617090
HP:0000002	Abnormality of body height	9928	KIF14	ORPHA:2512
HP:0000002	Abnormality of body height	9928	KIF14	OMIM:617914
HP:0000002	Abnormality of body height	284403	WDR62	ORPHA:2512
HP:0000002	Abnormality of body height	55262	TRAPPC14	ORPHA:2512
HP:0000002	Abnormality of body height	163786	SASS6	ORPHA:2512
HP:0000002	Abnormality of body height	29920	PYCR2	ORPHA:2512
HP:0000002	Abnormality of body height	84879	MFSD2A	ORPHA:2512
HP:0000002	Abnormality of body height	4176	MCM7	ORPHA:2512
HP:0000002	Abnormality of body height	29081	METTL5	ORPHA:2512
HP:0000002	Abnormality of body height	23310	NCAPD3	ORPHA:2512
HP:0000002	Abnormality of body height	23310	NCAPD3	OMIM:617984
HP:0000002	Abnormality of body height	23141	ANKLE2	ORPHA:2512
HP:0000002	Abnormality of body height	23141	ANKLE2	OMIM:616681
HP:0000002	Abnormality of body height	9662	CEP135	ORPHA:2512
HP:0000002	Abnormality of body height	1021	CDK6	ORPHA:2512
HP:0000002	Abnormality of body height	10892	MALT1	OMIM:615468
HP:0000002	Abnormality of body height	203068	TUBB	ORPHA:2505
HP:0000002	Abnormality of body height	10749	KIF1C	ORPHA:397946
HP:0000002	Abnormality of body height	104	ADARB1	OMIM:618862
HP:0000002	Abnormality of body height	83932	SPRTN	OMIM:616200
HP:0000002	Abnormality of body height	60684	TRAPPC11	OMIM:615356
HP:0000002	Abnormality of body height	60684	TRAPPC11	ORPHA:869
HP:0000002	Abnormality of body height	3703	STT3A	OMIM:619714
HP:0000002	Abnormality of body height	347733	TUBB2B	ORPHA:1766
HP:0000002	Abnormality of body height	51761	ATP8A2	ORPHA:1766
HP:0000002	Abnormality of body height	767	CA8	ORPHA:1766
HP:0000002	Abnormality of body height	3021	H3-3B	OMIM:619721
HP:0000002	Abnormality of body height	79639	TMEM53	OMIM:619727
HP:0000002	Abnormality of body height	84572	GNPTG	OMIM:252605
HP:0000002	Abnormality of body height	716	C1S	ORPHA:75392
HP:0000002	Abnormality of body height	715	C1R	ORPHA:75392
HP:0000002	Abnormality of body height	2590	GALNT2	OMIM:618885
HP:0000002	Abnormality of body height	170691	ADAMTS17	OMIM:613195
HP:0000002	Abnormality of body height	4853	NOTCH2	OMIM:102500
HP:0000002	Abnormality of body height	4853	NOTCH2	ORPHA:955
HP:0000002	Abnormality of body height	56172	ANKH	OMIM:123000
HP:0000002	Abnormality of body height	9581	PREPL	OMIM:616224
HP:0000002	Abnormality of body height	23761	PISD	OMIM:618889
HP:0000002	Abnormality of body height	5442	POLRMT	OMIM:619743
HP:0000002	Abnormality of body height	833	CARS1	OMIM:618891
HP:0000002	Abnormality of body height	55012	PPP2R3C	OMIM:618419
HP:0000002	Abnormality of body height	1789	DNMT3B	OMIM:242860
HP:0000002	Abnormality of body height	1789	DNMT3B	ORPHA:2268
HP:0000002	Abnormality of body height	89891	DYNC2I2	ORPHA:474
HP:0000002	Abnormality of body height	1947	EFNB1	OMIM:304110
HP:0000002	Abnormality of body height	339983	NAT8L	OMIM:614063
HP:0000002	Abnormality of body height	3572	IL6ST	OMIM:619750
HP:0000002	Abnormality of body height	8363	H4C11	OMIM:619759
HP:0000002	Abnormality of body height	54928	BPNT2	OMIM:614078
HP:0000002	Abnormality of body height	53335	BCL11A	OMIM:617101
HP:0000002	Abnormality of body height	9993	DGCR2	OMIM:192430
HP:0000002	Abnormality of body height	8220	ESS2	OMIM:192430
HP:0000002	Abnormality of body height	8214	DGCR6	OMIM:192430
HP:0000002	Abnormality of body height	54487	DGCR8	OMIM:192430
HP:0000002	Abnormality of body height	51651	PTRH2	OMIM:616263
HP:0000002	Abnormality of body height	23162	MAPK8IP3	OMIM:618443
HP:0000002	Abnormality of body height	249	ALPL	OMIM:241510
HP:0000002	Abnormality of body height	387733	IFITM5	OMIM:610967
HP:0000002	Abnormality of body height	26100	WIPI2	OMIM:618453
HP:0000002	Abnormality of body height	8295	TRRAP	OMIM:618454
HP:0000002	Abnormality of body height	5256	PHKA2	ORPHA:264580
HP:0000002	Abnormality of body height	5261	PHKG2	ORPHA:264580
HP:0000002	Abnormality of body height	6878	TAF6	OMIM:617126
HP:0000002	Abnormality of body height	5277	PIGA	OMIM:301072
HP:0000002	Abnormality of body height	2902	GRIN1	ORPHA:208447
HP:0000002	Abnormality of body height	6492	SIM1	ORPHA:369873
HP:0000002	Abnormality of body height	79879	CCDC134	OMIM:619795
HP:0000002	Abnormality of body height	54892	NCAPG2	OMIM:618460
HP:0000002	Abnormality of body height	6650	CAPN15	OMIM:619318
HP:0000002	Abnormality of body height	8675	STX16	ORPHA:94089
HP:0000002	Abnormality of body height	5631	PRPS1	ORPHA:423479
HP:0000002	Abnormality of body height	5631	PRPS1	OMIM:300661
HP:0000002	Abnormality of body height	6548	SLC9A1	OMIM:616291
HP:0000002	Abnormality of body height	221496	LEMD2	OMIM:619322
HP:0000002	Abnormality of body height	29998	BICRA	OMIM:619325
HP:0000002	Abnormality of body height	6651	SON	OMIM:617140
HP:0000002	Abnormality of body height	23586	RIGI	OMIM:616298
HP:0000002	Abnormality of body height	8882	ZPR1	OMIM:619321
HP:0000002	Abnormality of body height	55503	TRPV6	ORPHA:417
HP:0000002	Abnormality of body height	846	CASR	ORPHA:417
HP:0000002	Abnormality of body height	846	CASR	OMIM:601198
HP:0000002	Abnormality of body height	1725	DHPS	OMIM:618480
HP:0000002	Abnormality of body height	7476	WNT7A	OMIM:228930
HP:0000002	Abnormality of body height	2530	FUT8	OMIM:618005
HP:0000002	Abnormality of body height	54496	PRMT7	OMIM:617157
HP:0000002	Abnormality of body height	1108	CHD4	OMIM:617159
HP:0000002	Abnormality of body height	23389	MED13L	ORPHA:369891
HP:0000002	Abnormality of body height	1781	DYNC1I2	OMIM:618492
HP:0000002	Abnormality of body height	8091	HMGA2	ORPHA:94063
HP:0000002	Abnormality of body height	23592	LEMD3	ORPHA:94063
HP:0000002	Abnormality of body height	23592	LEMD3	ORPHA:1306
HP:0000002	Abnormality of body height	54681	P4HTM	OMIM:618493
HP:0000002	Abnormality of body height	79644	SRD5A3	OMIM:612713
HP:0000002	Abnormality of body height	5977	DPF2	OMIM:618027
HP:0000002	Abnormality of body height	29926	GMPPA	ORPHA:869
HP:0000002	Abnormality of body height	2077	ERF	OMIM:617180
HP:0000002	Abnormality of body height	51715	RAB23	OMIM:201000
HP:0000002	Abnormality of body height	226	ALDOA	OMIM:611881
HP:0000002	Abnormality of body height	6299	SALL1	ORPHA:857
HP:0000002	Abnormality of body height	51339	DACT1	ORPHA:857
HP:0000002	Abnormality of body height	5080	PAX6	ORPHA:893
HP:0000002	Abnormality of body height	627	BDNF	ORPHA:893
HP:0000002	Abnormality of body height	7490	WT1	ORPHA:893
HP:0000002	Abnormality of body height	1650	DDOST	ORPHA:300536
HP:0000002	Abnormality of body height	7390	UROS	OMIM:263700
HP:0000002	Abnormality of body height	142680	SLC34A3	ORPHA:157215
HP:0000002	Abnormality of body height	2332	FMR1	ORPHA:261483
HP:0000002	Abnormality of body height	23154	NCDN	OMIM:619373
HP:0000002	Abnormality of body height	5236	PGM1	OMIM:614921
HP:0000002	Abnormality of body height	11011	TLK2	OMIM:618050
HP:0000002	Abnormality of body height	161742	SPRED1	ORPHA:137605
HP:0000002	Abnormality of body height	5144	PDE4D	ORPHA:950
HP:0000002	Abnormality of body height	7421	VDR	ORPHA:93160
HP:0000002	Abnormality of body height	9131	AIFM1	OMIM:300232
HP:0000002	Abnormality of body height	347734	SLC35B2	OMIM:620269
HP:0000002	Abnormality of body height	345895	RSPH4A	OMIM:612649
HP:0000002	Abnormality of body height	23118	TAB2	ORPHA:228410
HP:0000002	Abnormality of body height	221421	RSPH9	OMIM:612650
HP:0000002	Abnormality of body height	2911	GRM1	OMIM:614831
HP:0000002	Abnormality of body height	64324	NSD1	ORPHA:228415
HP:0000002	Abnormality of body height	6926	TBX3	ORPHA:3138
HP:0000002	Abnormality of body height	3899	AFF3	OMIM:619297
HP:0000002	Abnormality of body height	10157	AASS	ORPHA:3124
HP:0000002	Abnormality of body height	10157	AASS	ORPHA:2203
HP:0000002	Abnormality of body height	5095	PCCA	OMIM:606054
HP:0000002	Abnormality of body height	5096	PCCB	OMIM:606054
HP:0000002	Abnormality of body height	3070	HELLS	ORPHA:2268
HP:0000002	Abnormality of body height	83879	CDCA7	ORPHA:2268
HP:0000002	Abnormality of body height	9841	ZBTB24	ORPHA:2268
HP:0000002	Abnormality of body height	649	BMP1	OMIM:614856
HP:0000002	Abnormality of body height	6804	STX1A	ORPHA:904
HP:0000002	Abnormality of body height	7461	CLIP2	ORPHA:904
HP:0000002	Abnormality of body height	84277	DNAJC30	ORPHA:904
HP:0000002	Abnormality of body height	8468	FKBP6	ORPHA:904
HP:0000002	Abnormality of body height	5982	RFC2	ORPHA:904
HP:0000002	Abnormality of body height	2969	GTF2I	ORPHA:904
HP:0000002	Abnormality of body height	3984	LIMK1	ORPHA:904
HP:0000002	Abnormality of body height	9569	GTF2IRD1	ORPHA:904
HP:0000002	Abnormality of body height	155382	VPS37D	ORPHA:904
HP:0000002	Abnormality of body height	155368	METTL27	ORPHA:904
HP:0000002	Abnormality of body height	114049	BUD23	ORPHA:904
HP:0000002	Abnormality of body height	7458	EIF4H	ORPHA:904
HP:0000002	Abnormality of body height	84163	GTF2IRD2	ORPHA:904
HP:0000002	Abnormality of body height	9275	BCL7B	ORPHA:904
HP:0000002	Abnormality of body height	26608	TBL2	ORPHA:904
HP:0000002	Abnormality of body height	653361	NCF1	ORPHA:904
HP:0000002	Abnormality of body height	135886	TMEM270	ORPHA:904
HP:0000002	Abnormality of body height	9031	BAZ1B	ORPHA:904
HP:0000002	Abnormality of body height	6329	SCN4A	ORPHA:99735
HP:0000002	Abnormality of body height	6628	SNRPB	ORPHA:1393
HP:0000002	Abnormality of body height	9493	KIF23	ORPHA:98870
HP:0000002	Abnormality of body height	29127	RACGAP1	ORPHA:98870
HP:0000002	Abnormality of body height	23483	TGDS	ORPHA:1388
HP:0000002	Abnormality of body height	4313	MMP2	OMIM:259600
HP:0000002	Abnormality of body height	55081	IFT57	OMIM:617927
HP:0000002	Abnormality of body height	27152	INTU	OMIM:617926
HP:0000002	Abnormality of body height	7507	XPA	ORPHA:910
HP:0000002	Abnormality of body height	7508	XPC	ORPHA:910
HP:0000002	Abnormality of body height	1643	DDB2	ORPHA:910
HP:0000002	Abnormality of body height	9698	PUM1	OMIM:617931
HP:0000002	Abnormality of body height	4173	MCM4	OMIM:609981
HP:0000002	Abnormality of body height	7849	PAX8	ORPHA:95720
HP:0000002	Abnormality of body height	7849	PAX8	ORPHA:95713
HP:0000002	Abnormality of body height	7849	PAX8	ORPHA:95712
HP:0000002	Abnormality of body height	7253	TSHR	ORPHA:95720
HP:0000002	Abnormality of body height	7253	TSHR	ORPHA:95713
HP:0000002	Abnormality of body height	5172	SLC26A4	ORPHA:95720
HP:0000002	Abnormality of body height	5172	SLC26A4	ORPHA:95713
HP:0000002	Abnormality of body height	389827	MYMK	ORPHA:1358
HP:0000002	Abnormality of body height	101929726	MYMX	ORPHA:1358
HP:0000002	Abnormality of body height	8671	SLC4A4	OMIM:604278
HP:0000002	Abnormality of body height	1482	NKX2-5	ORPHA:95713
HP:0000002	Abnormality of body height	1482	NKX2-5	ORPHA:95712
HP:0000002	Abnormality of body height	2304	FOXE1	ORPHA:95713
HP:0000002	Abnormality of body height	54974	THG1L	OMIM:618800
HP:0000002	Abnormality of body height	1292	COL6A2	OMIM:255600
HP:0000002	Abnormality of body height	9056	SLC7A7	OMIM:222700
HP:0000002	Abnormality of body height	1729	DIAPH1	OMIM:616632
HP:0000002	Abnormality of body height	175	AGA	OMIM:208400
HP:0000002	Abnormality of body height	2239	GPC4	ORPHA:2662
HP:0000002	Abnormality of body height	116442	RAB39B	OMIM:300271
HP:0000002	Abnormality of body height	7874	USP7	ORPHA:500055
HP:0000002	Abnormality of body height	55325	UFSP2	OMIM:617974
HP:0000002	Abnormality of body height	8087	FXR1	OMIM:618822
HP:0000002	Abnormality of body height	5205	ATP8B1	OMIM:211600
HP:0000002	Abnormality of body height	285175	UNC80	ORPHA:371364
HP:0000002	Abnormality of body height	9918	NCAPD2	OMIM:617983
HP:0000002	Abnormality of body height	54870	QRICH1	OMIM:617982
HP:0000002	Abnormality of body height	3295	HSD17B4	OMIM:233400
HP:0000002	Abnormality of body height	2819	GPD1	OMIM:614480
HP:0000002	Abnormality of body height	51780	KDM3B	OMIM:618846
HP:0000002	Abnormality of body height	8815	BANF1	OMIM:614008
HP:0000002	Abnormality of body height	10312	TCIRG1	ORPHA:1782
HP:0000002	Abnormality of body height	9130	FAM50A	OMIM:300261
HP:0000002	Abnormality of body height	5307	PITX1	OMIM:119800
HP:0000002	Abnormality of body height	55651	NHP2	ORPHA:1775
HP:0000002	Abnormality of body height	55135	WRAP53	ORPHA:1775
HP:0000002	Abnormality of body height	4869	NPM1	ORPHA:1775
HP:0000002	Abnormality of body height	7012	TERC	ORPHA:1775
HP:0000002	Abnormality of body height	55505	NOP10	ORPHA:1775
HP:0000002	Abnormality of body height	6736	SRY	ORPHA:1772
HP:0000002	Abnormality of body height	85465	SELENOI	ORPHA:506353
HP:0000002	Abnormality of body height	91252	SLC39A13	ORPHA:157965
HP:0000002	Abnormality of body height	91252	SLC39A13	OMIM:612350
HP:0000002	Abnormality of body height	860	RUNX2	OMIM:119600
HP:0000002	Abnormality of body height	3239	HOXD13	OMIM:113300
HP:0000002	Abnormality of body height	9653	HS2ST1	OMIM:619194
HP:0000002	Abnormality of body height	4921	DDR2	OMIM:271665
HP:0000002	Abnormality of body height	23169	SLC35D1	ORPHA:3144
HP:0000002	Abnormality of body height	23169	SLC35D1	OMIM:269250
HP:0000002	Abnormality of body height	64175	P3H1	OMIM:610915
HP:0000002	Abnormality of body height	2121	EVC	OMIM:225500
HP:0000002	Abnormality of body height	132884	EVC2	OMIM:225500
HP:0000002	Abnormality of body height	11014	KDELR2	OMIM:619131
HP:0000002	Abnormality of body height	23184	MESD	OMIM:618644
HP:0000002	Abnormality of body height	5479	PPIB	OMIM:259440
HP:0000002	Abnormality of body height	406932	MIR140	OMIM:618618
HP:0000002	Abnormality of body height	57539	WDR35	OMIM:613610
HP:0000002	Abnormality of body height	57539	WDR35	ORPHA:1515
HP:0000002	Abnormality of body height	145173	B3GLCT	ORPHA:709
HP:0000002	Abnormality of body height	145173	B3GLCT	OMIM:261540
HP:0000002	Abnormality of body height	10586	MAB21L2	OMIM:615877
HP:0000002	Abnormality of body height	755	CFAP410	OMIM:602271
HP:0000002	Abnormality of body height	8540	AGPS	OMIM:600121
HP:0000002	Abnormality of body height	8200	GDF5	OMIM:228900
HP:0000002	Abnormality of body height	8443	GNPAT	OMIM:222765
HP:0000002	Abnormality of body height	8942	KYNU	OMIM:617661
HP:0000002	Abnormality of body height	114803	MYSM1	OMIM:618116
HP:0000002	Abnormality of body height	1717	DHCR7	ORPHA:818
HP:0000002	Abnormality of body height	176	ACAN	OMIM:612813
HP:0000002	Abnormality of body height	176	ACAN	ORPHA:171866
HP:0000002	Abnormality of body height	112752	IFT43	ORPHA:1515
HP:0000002	Abnormality of body height	112752	IFT43	OMIM:614099
HP:0000002	Abnormality of body height	51098	IFT52	ORPHA:1515
HP:0000002	Abnormality of body height	55764	IFT122	ORPHA:1515
HP:0000002	Abnormality of body height	55764	IFT122	OMIM:218330
HP:0000002	Abnormality of body height	57728	WDR19	ORPHA:1515
HP:0000002	Abnormality of body height	57728	WDR19	OMIM:614376
HP:0000002	Abnormality of body height	9382	COG1	OMIM:611209
HP:0000002	Abnormality of body height	9382	COG1	ORPHA:263508
HP:0000002	Abnormality of body height	9469	CHST3	ORPHA:263463
HP:0000002	Abnormality of body height	9469	CHST3	OMIM:143095
HP:0000002	Abnormality of body height	9469	CHST3	OMIM:245600
HP:0000002	Abnormality of body height	10082	GPC6	OMIM:258315
HP:0000002	Abnormality of body height	10082	GPC6	ORPHA:93329
HP:0000002	Abnormality of body height	90993	CREB3L1	OMIM:616229
HP:0000002	Abnormality of body height	79087	ALG12	OMIM:607143
HP:0000002	Abnormality of body height	372	ARCN1	OMIM:617164
HP:0000002	Abnormality of body height	10013	HDAC6	OMIM:300863
HP:0000002	Abnormality of body height	10013	HDAC6	ORPHA:163966
HP:0000002	Abnormality of body height	4297	KMT2A	ORPHA:319182
HP:0000002	Abnormality of body height	1301	COL11A1	OMIM:228520
HP:0000002	Abnormality of body height	1301	COL11A1	ORPHA:440354
HP:0000002	Abnormality of body height	2475	MTOR	OMIM:616638
HP:0000002	Abnormality of body height	3930	LBR	OMIM:618019
HP:0000002	Abnormality of body height	3930	LBR	OMIM:215140
HP:0000002	Abnormality of body height	3930	LBR	ORPHA:1426
HP:0000002	Abnormality of body height	4322	MMP13	OMIM:602111
HP:0000002	Abnormality of body height	5593	PRKG2	OMIM:619638
HP:0000002	Abnormality of body height	5593	PRKG2	OMIM:619636
HP:0000002	Abnormality of body height	91461	PKDCC	OMIM:618821
HP:0000002	Abnormality of body height	4796	TONSL	ORPHA:93357
HP:0000002	Abnormality of body height	4796	TONSL	OMIM:271510
HP:0000002	Abnormality of body height	145258	GSC	OMIM:602471
HP:0000002	Abnormality of body height	79796	ALG9	ORPHA:79328
HP:0000002	Abnormality of body height	9702	CEP57	OMIM:614114
HP:0000002	Abnormality of body height	23387	SIK3	OMIM:618162
HP:0000002	Abnormality of body height	153241	CEP120	OMIM:616300
HP:0000002	Abnormality of body height	10491	CRTAP	OMIM:610682
HP:0000002	Abnormality of body height	10682	EBP	OMIM:302960
HP:0000002	Abnormality of body height	1513	CTSK	ORPHA:763
HP:0000002	Abnormality of body height	26229	B3GAT3	OMIM:245600
HP:0000002	Abnormality of body height	6913	TBX15	OMIM:260660
HP:0000002	Abnormality of body height	9742	IFT140	OMIM:266920
HP:0000002	Abnormality of body height	81570	CLPB	OMIM:616271
HP:0000002	Abnormality of body height	57560	IFT80	OMIM:611263
HP:0000002	Abnormality of body height	25886	POC1A	OMIM:614813
HP:0000002	Abnormality of body height	871	SERPINH1	OMIM:613848
HP:0000002	Abnormality of body height	2879	GPX4	OMIM:250220
HP:0000002	Abnormality of body height	5566	PRKACA	ORPHA:289
HP:0000002	Abnormality of body height	5567	PRKACB	ORPHA:289
HP:0000002	Abnormality of body height	1027	CDKN1B	ORPHA:652
HP:0000002	Abnormality of body height	1026	CDKN1A	ORPHA:652
HP:0000002	Abnormality of body height	1030	CDKN2B	ORPHA:652
HP:0000002	Abnormality of body height	1031	CDKN2C	ORPHA:652
HP:0000002	Abnormality of body height	5468	PPARG	ORPHA:528
HP:0000002	Abnormality of body height	284119	CAVIN1	ORPHA:528
HP:0000002	Abnormality of body height	2353	FOS	ORPHA:528
HP:0000002	Abnormality of body height	2201	FBN2	OMIM:121050
HP:0000008	Abnormal morphology of female internal genitalia	5566	PRKACA	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	5567	PRKACB	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	2735	GLI1	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	2121	EVC	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	51626	DYNC2LI1	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	132884	EVC2	ORPHA:289
HP:0000008	Abnormal morphology of female internal genitalia	6911	TBX6	ORPHA:1797
HP:0000008	Abnormal morphology of female internal genitalia	80169	CTC1	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	26277	TINF2	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	55651	NHP2	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	79650	USB1	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	55135	WRAP53	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	51750	RTEL1	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	4869	NPM1	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	7012	TERC	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	55505	NOP10	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	5073	PARN	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	7015	TERT	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	1736	DKC1	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	7298	TYMS	ORPHA:1775
HP:0000008	Abnormal morphology of female internal genitalia	7852	CXCR4	OMIM:193670
HP:0000008	Abnormal morphology of female internal genitalia	134701	RIPPLY2	ORPHA:2311
HP:0000008	Abnormal morphology of female internal genitalia	10683	DLL3	ORPHA:2311
HP:0000008	Abnormal morphology of female internal genitalia	3955	LFNG	ORPHA:2311
HP:0000008	Abnormal morphology of female internal genitalia	84667	HES7	ORPHA:2311
HP:0000008	Abnormal morphology of female internal genitalia	145873	MESP2	ORPHA:2311
HP:0000008	Abnormal morphology of female internal genitalia	7248	TSC1	ORPHA:538
HP:0000008	Abnormal morphology of female internal genitalia	7249	TSC2	ORPHA:538
HP:0000008	Abnormal morphology of female internal genitalia	5979	RET	ORPHA:1848
HP:0000008	Abnormal morphology of female internal genitalia	8516	ITGA8	ORPHA:1848
HP:0000008	Abnormal morphology of female internal genitalia	26281	FGF20	ORPHA:1848
HP:0000008	Abnormal morphology of female internal genitalia	2674	GFRA1	ORPHA:1848
HP:0000008	Abnormal morphology of female internal genitalia	7484	WNT9B	ORPHA:1848
HP:0000008	Abnormal morphology of female internal genitalia	9723	SEMA3E	ORPHA:138
HP:0000008	Abnormal morphology of female internal genitalia	10371	SEMA3A	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	23767	FLRT3	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	79625	NDNF	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	389549	FEZF1	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	1630	DCC	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	3730	ANOS1	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	54756	IL17RD	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	6663	SOX10	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	285025	CCDC141	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	8820	HESX1	ORPHA:478
HP:0000008	Abnormal morphology of female internal genitalia	5573	PRKAR1A	ORPHA:1359
HP:0000008	Abnormal morphology of female internal genitalia	50940	PDE11A	ORPHA:1359
HP:0000008	Abnormal morphology of female internal genitalia	3239	HOXD13	ORPHA:887
HP:0000008	Abnormal morphology of female internal genitalia	668	FOXL2	OMIM:110100
HP:0000008	Abnormal morphology of female internal genitalia	668	FOXL2	ORPHA:572333
HP:0000008	Abnormal morphology of female internal genitalia	668	FOXL2	OMIM:608996
HP:0000008	Abnormal morphology of female internal genitalia	128	ADH5	OMIM:619151
HP:0000008	Abnormal morphology of female internal genitalia	2260	FGFR1	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	81848	SPRY4	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	128674	PROKR2	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	2253	FGF8	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	60675	PROK2	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	55636	CHD7	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	6870	TACR3	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	1848	DUSP6	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	26012	NSMF	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	55717	WDR11	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	9394	HS6ST1	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	2796	GNRH1	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	2796	GNRH1	OMIM:614841
HP:0000008	Abnormal morphology of female internal genitalia	2798	GNRHR	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	84634	KISS1R	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	84634	KISS1R	OMIM:614837
HP:0000008	Abnormal morphology of female internal genitalia	6866	TAC3	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	8822	FGF17	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	3814	KISS1	ORPHA:432
HP:0000008	Abnormal morphology of female internal genitalia	3814	KISS1	OMIM:614842
HP:0000008	Abnormal morphology of female internal genitalia	5447	POR	OMIM:201750
HP:0000008	Abnormal morphology of female internal genitalia	402381	SOHLH1	OMIM:617690
HP:0000008	Abnormal morphology of female internal genitalia	9210	BMP15	OMIM:300510
HP:0000008	Abnormal morphology of female internal genitalia	1349	COX7B	OMIM:309801
HP:0000008	Abnormal morphology of female internal genitalia	3052	HCCS	OMIM:309801
HP:0000008	Abnormal morphology of female internal genitalia	54539	NDUFB11	OMIM:309801
HP:0000008	Abnormal morphology of female internal genitalia	145173	B3GLCT	OMIM:261540
HP:0000008	Abnormal morphology of female internal genitalia	145173	B3GLCT	ORPHA:709
HP:0000008	Abnormal morphology of female internal genitalia	54361	WNT4	ORPHA:247768
HP:0000008	Abnormal morphology of female internal genitalia	2516	NR5A1	OMIM:612964
HP:0000008	Abnormal morphology of female internal genitalia	2516	NR5A1	OMIM:612965
HP:0000008	Abnormal morphology of female internal genitalia	80067	DCAF17	ORPHA:3464
HP:0000008	Abnormal morphology of female internal genitalia	80067	DCAF17	OMIM:241080
HP:0000008	Abnormal morphology of female internal genitalia	64220	STRA6	OMIM:601186
HP:0000008	Abnormal morphology of female internal genitalia	2099	ESR1	ORPHA:785
HP:0000008	Abnormal morphology of female internal genitalia	2099	ESR1	OMIM:615363
HP:0000008	Abnormal morphology of female internal genitalia	317761	C14orf39	OMIM:619203
HP:0000008	Abnormal morphology of female internal genitalia	1584	CYP11B1	OMIM:202010
HP:0000008	Abnormal morphology of female internal genitalia	3664	IRF6	OMIM:119500
HP:0000008	Abnormal morphology of female internal genitalia	57122	NUP107	OMIM:618078
HP:0000008	Abnormal morphology of female internal genitalia	1528	CYB5A	ORPHA:90796
HP:0000008	Abnormal morphology of female internal genitalia	1586	CYP17A1	ORPHA:90796
HP:0000008	Abnormal morphology of female internal genitalia	9928	KIF14	OMIM:616258
HP:0000008	Abnormal morphology of female internal genitalia	9928	KIF14	OMIM:617914
HP:0000008	Abnormal morphology of female internal genitalia	56945	MRPS22	OMIM:618117
HP:0000008	Abnormal morphology of female internal genitalia	6928	HNF1B	OMIM:137920
HP:0000008	Abnormal morphology of female internal genitalia	8192	CLPP	OMIM:614129
HP:0000008	Abnormal morphology of female internal genitalia	658	BMPR1B	OMIM:609441
HP:0000008	Abnormal morphology of female internal genitalia	23514	SPIDR	OMIM:619665
HP:0000008	Abnormal morphology of female internal genitalia	26284	ERAL1	OMIM:617565
HP:0000008	Abnormal morphology of female internal genitalia	4439	MSH5	OMIM:617442
HP:0000008	Abnormal morphology of female internal genitalia	51199	NIN	OMIM:614851
HP:0000008	Abnormal morphology of female internal genitalia	23395	LARS2	OMIM:615300
HP:0000008	Abnormal morphology of female internal genitalia	55012	PPP2R3C	OMIM:618419
HP:0000008	Abnormal morphology of female internal genitalia	344018	FIGLA	OMIM:612310
HP:0000008	Abnormal morphology of female internal genitalia	6664	SOX11	OMIM:615866
HP:0000008	Abnormal morphology of female internal genitalia	50846	DHH	OMIM:233420
HP:0000008	Abnormal morphology of female internal genitalia	50846	DHH	ORPHA:168563
HP:0000008	Abnormal morphology of female internal genitalia	23476	BRD4	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	9126	SMC3	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	8243	SMC1A	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	25836	NIPBL	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	55869	HDAC8	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	5885	RAD21	ORPHA:199
HP:0000008	Abnormal morphology of female internal genitalia	5915	RARB	ORPHA:2470
HP:0000008	Abnormal morphology of female internal genitalia	6662	SOX9	ORPHA:2138
HP:0000008	Abnormal morphology of female internal genitalia	6736	SRY	ORPHA:2138
HP:0000008	Abnormal morphology of female internal genitalia	672	BRCA1	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	10459	MAD2L2	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	7516	XRCC2	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	29089	UBE2T	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	675	BRCA2	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	55120	FANCL	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2177	FANCD2	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2175	FANCA	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2187	FANCB	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2176	FANCC	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2178	FANCE	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2188	FANCF	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2189	FANCG	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	5888	RAD51	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	5889	RAD51C	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	55159	RFWD3	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	83990	BRIP1	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	57697	FANCM	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	79728	PALB2	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	84464	SLX4	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	2072	ERCC4	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	55215	FANCI	ORPHA:84
HP:0000008	Abnormal morphology of female internal genitalia	1131	CHRM3	ORPHA:2970
HP:0000008	Abnormal morphology of female internal genitalia	1312	COMT	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	221037	JMJD1C	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	2812	GP1BB	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	6239	RREB1	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	6899	TBX1	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	7290	HIRA	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	9632	SEC24C	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	7353	UFD1	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	421	ARVCF	ORPHA:567
HP:0000008	Abnormal morphology of female internal genitalia	10262	SF3B4	ORPHA:1788
HP:0000008	Abnormal morphology of female internal genitalia	10483	SEC23B	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	5728	PTEN	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	6390	SDHB	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	6392	SDHD	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	6391	SDHC	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	207	AKT1	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	205717	USF3	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	5290	PIK3CA	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	100144748	KLLN	ORPHA:201
HP:0000008	Abnormal morphology of female internal genitalia	54903	MKS1	OMIM:249000
HP:0000008	Abnormal morphology of female internal genitalia	4036	LRP2	ORPHA:2143
HP:0000008	Abnormal morphology of female internal genitalia	6299	SALL1	ORPHA:857
HP:0000008	Abnormal morphology of female internal genitalia	51339	DACT1	ORPHA:857
HP:0000008	Abnormal morphology of female internal genitalia	80000	GREB1L	OMIM:617805
HP:0000008	Abnormal morphology of female internal genitalia	5080	PAX6	OMIM:194072
HP:0000008	Abnormal morphology of female internal genitalia	6926	TBX3	ORPHA:3138
HP:0000008	Abnormal morphology of female internal genitalia	79577	CDC73	ORPHA:143
HP:0000008	Abnormal morphology of female internal genitalia	79577	CDC73	ORPHA:99880
HP:0000008	Abnormal morphology of female internal genitalia	2261	FGFR3	OMIM:616482
HP:0000008	Abnormal morphology of female internal genitalia	4437	MSH3	ORPHA:480536
HP:0000008	Abnormal morphology of female internal genitalia	4437	MSH3	OMIM:617100
HP:0000008	Abnormal morphology of female internal genitalia	26227	PHGDH	OMIM:256520
HP:0000008	Abnormal morphology of female internal genitalia	4609	MYC	ORPHA:543
HP:0000008	Abnormal morphology of female internal genitalia	79140	CCDC28B	OMIM:209900
HP:0000008	Abnormal morphology of female internal genitalia	5295	PIK3R1	OMIM:269880
HP:0000008	Abnormal morphology of female internal genitalia	4913	NTHL1	ORPHA:454840
HP:0000008	Abnormal morphology of female internal genitalia	3643	INSR	OMIM:246200
HP:0000008	Abnormal morphology of female internal genitalia	55503	TRPV6	OMIM:618188
HP:0000008	Abnormal morphology of female internal genitalia	2155	F7	ORPHA:327
HP:0000008	Abnormal morphology of female internal genitalia	2778	GNAS	ORPHA:562
HP:0000008	Abnormal morphology of female internal genitalia	3972	LHB	OMIM:228300
HP:0000008	Abnormal morphology of female internal genitalia	8481	OFD1	OMIM:311200
HP:0000008	Abnormal morphology of female internal genitalia	6197	RPS6KA3	OMIM:303600
HP:0000008	Abnormal morphology of female internal genitalia	2006	ELN	OMIM:123700
HP:0000008	Abnormal morphology of female internal genitalia	341640	FREM2	ORPHA:2052
HP:0000008	Abnormal morphology of female internal genitalia	80144	FRAS1	ORPHA:2052
HP:0000008	Abnormal morphology of female internal genitalia	23426	GRIP1	ORPHA:2052
HP:0000008	Abnormal morphology of female internal genitalia	84818	IL17RC	ORPHA:1334
HP:0000008	Abnormal morphology of female internal genitalia	64581	CLEC7A	ORPHA:1334
HP:0000008	Abnormal morphology of female internal genitalia	23765	IL17RA	ORPHA:1334
HP:0000008	Abnormal morphology of female internal genitalia	10758	TRAF3IP2	ORPHA:1334
HP:0000008	Abnormal morphology of female internal genitalia	112744	IL17F	ORPHA:1334
HP:0000008	Abnormal morphology of female internal genitalia	219844	HYLS1	OMIM:236680
HP:0000008	Abnormal morphology of female internal genitalia	9361	LONP1	OMIM:600373
HP:0000008	Abnormal morphology of female internal genitalia	57167	SALL4	OMIM:147750
HP:0000008	Abnormal morphology of female internal genitalia	57167	SALL4	ORPHA:2307
HP:0000008	Abnormal morphology of female internal genitalia	3588	IL10RB	OMIM:612567
HP:0000008	Abnormal morphology of female internal genitalia	26123	TCTN3	ORPHA:2753
HP:0000008	Abnormal morphology of female internal genitalia	10653	SPINT2	OMIM:270420
HP:0000008	Abnormal morphology of female internal genitalia	84172	POLR1B	ORPHA:861
HP:0000008	Abnormal morphology of female internal genitalia	9533	POLR1C	ORPHA:861
HP:0000008	Abnormal morphology of female internal genitalia	51082	POLR1D	ORPHA:861
HP:0000008	Abnormal morphology of female internal genitalia	6949	TCOF1	ORPHA:861
HP:0000008	Abnormal morphology of female internal genitalia	9401	RECQL4	OMIM:218600
HP:0000008	Abnormal morphology of female internal genitalia	267010	RNU12	OMIM:603116
HP:0000008	Abnormal morphology of female internal genitalia	374654	KIF7	OMIM:200990
HP:0000008	Abnormal morphology of female internal genitalia	1642	DDB1	OMIM:619426
HP:0000008	Abnormal morphology of female internal genitalia	3718	JAK3	ORPHA:35078
HP:0000008	Abnormal morphology of female internal genitalia	158326	FREM1	OMIM:608980
HP:0000008	Abnormal morphology of female internal genitalia	5297	PI4KA	OMIM:619708
HP:0000008	Abnormal morphology of female internal genitalia	7840	ALMS1	ORPHA:64
HP:0000008	Abnormal morphology of female internal genitalia	6658	SOX3	ORPHA:393
HP:0000008	Abnormal morphology of female internal genitalia	26580	BSCL2	OMIM:269700
HP:0000008	Abnormal morphology of female internal genitalia	26580	BSCL2	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	3991	LIPE	ORPHA:435660
HP:0000008	Abnormal morphology of female internal genitalia	4519	MT-CYB	ORPHA:137675
HP:0000008	Abnormal morphology of female internal genitalia	2321	FLT1	ORPHA:275555
HP:0000008	Abnormal morphology of female internal genitalia	219736	STOX1	ORPHA:275555
HP:0000008	Abnormal morphology of female internal genitalia	10699	CORIN	ORPHA:275555
HP:0000008	Abnormal morphology of female internal genitalia	6804	STX1A	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	7461	CLIP2	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	84277	DNAJC30	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	8468	FKBP6	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	5982	RFC2	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	2969	GTF2I	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	3984	LIMK1	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	155382	VPS37D	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	155368	METTL27	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	114049	BUD23	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	7458	EIF4H	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	9275	BCL7B	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	26608	TBL2	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	653361	NCF1	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	135886	TMEM270	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	51085	MLXIPL	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	9031	BAZ1B	ORPHA:904
HP:0000008	Abnormal morphology of female internal genitalia	118429	ANTXR2	ORPHA:2176
HP:0000008	Abnormal morphology of female internal genitalia	472	ATM	ORPHA:100
HP:0000008	Abnormal morphology of female internal genitalia	5346	PLIN1	ORPHA:280356
HP:0000008	Abnormal morphology of female internal genitalia	5468	PPARG	OMIM:604367
HP:0000008	Abnormal morphology of female internal genitalia	5468	PPARG	ORPHA:79083
HP:0000008	Abnormal morphology of female internal genitalia	5468	PPARG	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	63924	CIDEC	ORPHA:435651
HP:0000008	Abnormal morphology of female internal genitalia	6927	HNF1A	OMIM:142330
HP:0000008	Abnormal morphology of female internal genitalia	2542	SLC37A4	ORPHA:79259
HP:0000008	Abnormal morphology of female internal genitalia	208	AKT2	ORPHA:79085
HP:0000008	Abnormal morphology of female internal genitalia	5257	PHKB	ORPHA:79240
HP:0000008	Abnormal morphology of female internal genitalia	10555	AGPAT2	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	10555	AGPAT2	OMIM:608594
HP:0000008	Abnormal morphology of female internal genitalia	284119	CAVIN1	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	2353	FOS	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	857	CAV1	ORPHA:528
HP:0000008	Abnormal morphology of female internal genitalia	4313	MMP2	ORPHA:371428
HP:0000008	Abnormal morphology of female internal genitalia	4323	MMP14	ORPHA:371428
HP:0000008	Abnormal morphology of female internal genitalia	1761	DMRT1	ORPHA:242
HP:0000008	Abnormal morphology of female internal genitalia	84733	CBX2	ORPHA:242
HP:0000008	Abnormal morphology of female internal genitalia	5256	PHKA2	ORPHA:264580
HP:0000008	Abnormal morphology of female internal genitalia	5261	PHKG2	ORPHA:264580
HP:0000008	Abnormal morphology of female internal genitalia	24145	PANX1	ORPHA:488191
HP:0000008	Abnormal morphology of female internal genitalia	494551	WEE2	ORPHA:488191
HP:0000008	Abnormal morphology of female internal genitalia	197135	PATL2	ORPHA:488191
HP:0000008	Abnormal morphology of female internal genitalia	347688	TUBB8	ORPHA:488191
HP:0000008	Abnormal morphology of female internal genitalia	84823	LMNB2	OMIM:608709
HP:0000008	Abnormal morphology of female internal genitalia	29072	SETD2	OMIM:616831
HP:0000008	Abnormal morphology of female internal genitalia	4487	MSX1	ORPHA:2228
HP:0000008	Abnormal morphology of female internal genitalia	340419	RSPO2	ORPHA:3301
HP:0000008	Abnormal morphology of female internal genitalia	745	MYRF	OMIM:618280
HP:0000008	Abnormal morphology of female internal genitalia	57492	ARID1B	OMIM:135900
HP:0000008	Abnormal morphology of female internal genitalia	7476	WNT7A	ORPHA:2879
HP:0000008	Abnormal morphology of female internal genitalia	7476	WNT7A	OMIM:276820
HP:0000008	Abnormal morphology of female internal genitalia	79770	TXNDC15	OMIM:619879
HP:0000008	Abnormal morphology of female internal genitalia	9939	RBM8A	ORPHA:3320
HP:0000008	Abnormal morphology of female internal genitalia	9939	RBM8A	OMIM:274000
HP:0000008	Abnormal morphology of female internal genitalia	114034	TOE1	ORPHA:284339
HP:0000008	Abnormal morphology of female internal genitalia	9562	MINPP1	ORPHA:284339
HP:0000008	Abnormal morphology of female internal genitalia	53834	FGFRL1	OMIM:194190
HP:0000008	Abnormal morphology of female internal genitalia	1487	CTBP1	OMIM:194190
HP:0000008	Abnormal morphology of female internal genitalia	3954	LETM1	OMIM:194190
HP:0000008	Abnormal morphology of female internal genitalia	7468	NSD2	OMIM:194190
HP:0000008	Abnormal morphology of female internal genitalia	10815	CPLX1	OMIM:194190
HP:0000008	Abnormal morphology of female internal genitalia	2294	FOXF1	OMIM:265380
HP:0000008	Abnormal morphology of female internal genitalia	23556	PIGN	ORPHA:2059
HP:0000008	Abnormal morphology of female internal genitalia	157570	ESCO2	OMIM:268300
HP:0000008	Abnormal morphology of female internal genitalia	7148	TNXB	OMIM:606408
HP:0000008	Abnormal morphology of female internal genitalia	4281	MID1	ORPHA:2745
HP:0000008	Abnormal morphology of female internal genitalia	23384	SPECC1L	OMIM:145420
HP:0000008	Abnormal morphology of female internal genitalia	2255	FGF10	ORPHA:2363
HP:0000008	Abnormal morphology of female internal genitalia	9839	ZEB2	ORPHA:261537
HP:0000008	Abnormal morphology of female internal genitalia	9839	ZEB2	ORPHA:261552
HP:0000008	Abnormal morphology of female internal genitalia	1717	DHCR7	OMIM:270400
HP:0000008	Abnormal morphology of female internal genitalia	197131	UBR1	OMIM:243800
HP:0000008	Abnormal morphology of female internal genitalia	54880	BCOR	OMIM:300166
HP:0000008	Abnormal morphology of female internal genitalia	92002	CCNQ	OMIM:300707
HP:0000008	Abnormal morphology of female internal genitalia	3110	MNX1	OMIM:176450
HP:0000008	Abnormal morphology of female internal genitalia	8195	MKKS	OMIM:236700
HP:0000008	Abnormal morphology of female internal genitalia	7355	SLC35A2	OMIM:300896
HP:0000008	Abnormal morphology of female internal genitalia	6714	SRC	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	201163	FLCN	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	10395	DLC1	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	11200	CHEK2	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	8313	AXIN2	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	2033	EP300	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	5782	PTPN12	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	5320	PLA2G2A	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	6790	AURKA	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	27030	MLH3	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	581	BAX	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	25788	RAD54B	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	595	CCND1	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	7097	TLR2	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	4893	NRAS	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	324	APC	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	1499	CTNNB1	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	7157	TP53	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	4163	MCC	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	5157	PDGFRL	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	5795	PTPRJ	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	673	BRAF	OMIM:114500
HP:0000008	Abnormal morphology of female internal genitalia	5518	PPP2R1A	ORPHA:457284
HP:0000008	Abnormal morphology of female internal genitalia	5077	PAX3	OMIM:193500
HP:0000008	Abnormal morphology of female internal genitalia	2535	FZD2	OMIM:164745
HP:0000008	Abnormal morphology of female internal genitalia	8312	AXIN1	OMIM:607864
HP:0000008	Abnormal morphology of female internal genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000008	Abnormal morphology of female internal genitalia	57560	IFT80	ORPHA:93271
HP:0000008	Abnormal morphology of female internal genitalia	57539	WDR35	ORPHA:93271
HP:0000008	Abnormal morphology of female internal genitalia	79659	DYNC2H1	ORPHA:93271
HP:0000008	Abnormal morphology of female internal genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000008	Abnormal morphology of female internal genitalia	2625	GATA3	ORPHA:2237
HP:0000008	Abnormal morphology of female internal genitalia	2625	GATA3	OMIM:146255
HP:0000008	Abnormal morphology of female internal genitalia	4659	PPP1R12A	OMIM:618820
HP:0000008	Abnormal morphology of female internal genitalia	27152	INTU	OMIM:617925
HP:0000008	Abnormal morphology of female internal genitalia	3209	HOXA13	OMIM:140000
HP:0000008	Abnormal morphology of female internal genitalia	7490	WT1	OMIM:194080
HP:0000008	Abnormal morphology of female internal genitalia	6650	CAPN15	OMIM:619318
HP:0000008	Abnormal morphology of female internal genitalia	367	AR	ORPHA:99429
HP:0000008	Abnormal morphology of female internal genitalia	1588	CYP19A1	ORPHA:91
HP:0000008	Abnormal morphology of female internal genitalia	29893	PSMC3IP	ORPHA:243
HP:0000008	Abnormal morphology of female internal genitalia	171568	POLR3H	ORPHA:243
HP:0000008	Abnormal morphology of female internal genitalia	125150	ZSWIM7	ORPHA:243
HP:0000008	Abnormal morphology of female internal genitalia	2492	FSHR	ORPHA:243
HP:0000008	Abnormal morphology of female internal genitalia	646	BNC1	ORPHA:243
HP:0000008	Abnormal morphology of female internal genitalia	7473	WNT3	OMIM:273395
HP:0000008	Abnormal morphology of female internal genitalia	79796	ALG9	ORPHA:79328
HP:0000008	Abnormal morphology of female internal genitalia	92482	BBIP1	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	80184	CEP290	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	11020	IFT27	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	582	BBS1	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	49855	SCAPER	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	4867	NPHP1	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	51057	WDPCP	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	27241	BBS9	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	84984	CEP19	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	22954	TRIM32	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	79738	BBS10	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	123016	TTC8	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	26160	IFT172	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	583	BBS2	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	585	BBS4	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	54585	LZTFL1	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	55212	BBS7	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	10806	SDCCAG8	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	157657	CFAP418	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	84100	ARL6	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	129880	BBS5	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	80173	IFT74	ORPHA:110
HP:0000008	Abnormal morphology of female internal genitalia	5781	PTPN11	OMIM:151100
HP:0000008	Abnormal morphology of female internal genitalia	8882	ZPR1	OMIM:619321
HP:0000008	Abnormal morphology of female internal genitalia	164045	HFM1	OMIM:615724
HP:0000008	Abnormal morphology of female internal genitalia	84515	MCM8	OMIM:612885
HP:0000008	Abnormal morphology of female internal genitalia	3953	LEPR	ORPHA:179494
HP:0000008	Abnormal morphology of female internal genitalia	3952	LEP	ORPHA:66628
HP:0000008	Abnormal morphology of female internal genitalia	135935	NOBOX	OMIM:611548
HP:0000008	Abnormal morphology of female internal genitalia	5373	PMM2	ORPHA:79318
HP:0000008	Abnormal morphology of female internal genitalia	23438	HARS2	OMIM:614926
HP:0000008	Abnormal morphology of female internal genitalia	26040	SETBP1	ORPHA:798
HP:0000008	Abnormal morphology of female internal genitalia	64218	SEMA4A	ORPHA:440437
HP:0000008	Abnormal morphology of female internal genitalia	657	BMPR1A	ORPHA:440437
HP:0000008	Abnormal morphology of female internal genitalia	6224	RPS20	ORPHA:440437
HP:0000008	Abnormal morphology of female internal genitalia	2313	FLI1	ORPHA:370348
HP:0000008	Abnormal morphology of female internal genitalia	388662	SLC6A17	ORPHA:457212
HP:0000008	Abnormal morphology of female internal genitalia	5424	POLD1	OMIM:612591
HP:0000008	Abnormal morphology of female internal genitalia	5424	POLD1	ORPHA:447877
HP:0000008	Abnormal morphology of female internal genitalia	26585	GREM1	ORPHA:157794
HP:0000008	Abnormal morphology of female internal genitalia	5426	POLE	ORPHA:447877
HP:0000008	Abnormal morphology of female internal genitalia	5618	PRLR	ORPHA:397685
HP:0000008	Abnormal morphology of female internal genitalia	285282	RABL3	ORPHA:1333
HP:0000008	Abnormal morphology of female internal genitalia	4089	SMAD4	ORPHA:1333
HP:0000008	Abnormal morphology of female internal genitalia	23022	PALLD	ORPHA:1333
HP:0000008	Abnormal morphology of female internal genitalia	5727	PTCH1	OMIM:109400
HP:0000008	Abnormal morphology of female internal genitalia	1294	COL7A1	ORPHA:79409
HP:0000008	Abnormal morphology of female internal genitalia	1277	COL1A1	ORPHA:287
HP:0000008	Abnormal morphology of female internal genitalia	1289	COL5A1	ORPHA:287
HP:0000008	Abnormal morphology of female internal genitalia	1290	COL5A2	ORPHA:287
HP:0000008	Abnormal morphology of female internal genitalia	2737	GLI3	ORPHA:672
HP:0000008	Abnormal morphology of female internal genitalia	166379	BBS12	OMIM:615989
HP:0000008	Abnormal morphology of female internal genitalia	54101	RIPK4	ORPHA:1401
HP:0000008	Abnormal morphology of female internal genitalia	57514	ARHGAP31	OMIM:100300
HP:0000008	Abnormal morphology of female internal genitalia	7750	ZMYM2	OMIM:619522
HP:0000008	Abnormal morphology of female internal genitalia	6794	STK11	ORPHA:2869
HP:0000008	Abnormal morphology of female internal genitalia	1027	CDKN1B	ORPHA:276152
HP:0000008	Abnormal morphology of female internal genitalia	79228	THOC6	ORPHA:363444
HP:0000008	Abnormal morphology of female internal genitalia	79228	THOC6	OMIM:613680
HP:0000008	Abnormal morphology of female internal genitalia	5340	PLG	ORPHA:722
HP:0000008	Abnormal morphology of female internal genitalia	23405	DICER1	OMIM:180295
HP:0000008	Abnormal morphology of female internal genitalia	8626	TP63	OMIM:106260
HP:0000008	Abnormal morphology of female internal genitalia	2783	GNB2	OMIM:619503
HP:0000008	Abnormal morphology of female internal genitalia	8930	MBD4	OMIM:619975
HP:0000008	Abnormal morphology of female internal genitalia	2624	GATA2	OMIM:614172
HP:0000008	Abnormal morphology of female internal genitalia	5970	RELA	OMIM:618287
HP:0000008	Abnormal morphology of female internal genitalia	10046	MAMLD1	ORPHA:456328
HP:0000008	Abnormal morphology of female internal genitalia	4534	MTM1	ORPHA:456328
HP:0000008	Abnormal morphology of female internal genitalia	4292	MLH1	OMIM:158320
HP:0000008	Abnormal morphology of female internal genitalia	4292	MLH1	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	4436	MSH2	OMIM:158320
HP:0000008	Abnormal morphology of female internal genitalia	4436	MSH2	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	2263	FGFR2	ORPHA:87
HP:0000008	Abnormal morphology of female internal genitalia	54894	RNF43	ORPHA:157798
HP:0000008	Abnormal morphology of female internal genitalia	7486	WRN	ORPHA:902
HP:0000008	Abnormal morphology of female internal genitalia	1029	CDKN2A	ORPHA:524
HP:0000008	Abnormal morphology of female internal genitalia	4193	MDM2	ORPHA:524
HP:0000008	Abnormal morphology of female internal genitalia	5892	RAD51D	ORPHA:145
HP:0000008	Abnormal morphology of female internal genitalia	10111	RAD50	ORPHA:145
HP:0000008	Abnormal morphology of female internal genitalia	580	BARD1	ORPHA:145
HP:0000008	Abnormal morphology of female internal genitalia	4683	NBN	ORPHA:145
HP:0000008	Abnormal morphology of female internal genitalia	4361	MRE11	ORPHA:145
HP:0000008	Abnormal morphology of female internal genitalia	4072	EPCAM	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	5395	PMS2	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	5395	PMS2	OMIM:614337
HP:0000008	Abnormal morphology of female internal genitalia	22909	FAN1	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	3845	KRAS	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	2956	MSH6	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	2956	MSH6	OMIM:614350
HP:0000008	Abnormal morphology of female internal genitalia	5378	PMS1	ORPHA:144
HP:0000008	Abnormal morphology of female internal genitalia	80326	WNT10A	ORPHA:50944
HP:0000008	Abnormal morphology of female internal genitalia	2130	EWSR1	ORPHA:83469
HP:0000008	Abnormal morphology of female internal genitalia	2304	FOXE1	OMIM:616534
HP:0000008	Abnormal morphology of female internal genitalia	65998	ZFTA	ORPHA:251636
HP:0000008	Abnormal morphology of female internal genitalia	3418	IDH2	ORPHA:163634
HP:0000008	Abnormal morphology of female internal genitalia	3417	IDH1	ORPHA:163634
HP:0000008	Abnormal morphology of female internal genitalia	10734	STAG3	OMIM:615723
HP:0000008	Abnormal morphology of female internal genitalia	161742	SPRED1	ORPHA:137605
HP:0000008	Abnormal morphology of female internal genitalia	4000	LMNA	ORPHA:79474
HP:0000008	Abnormal morphology of female internal genitalia	9817	KEAP1	ORPHA:276399
HP:0000008	Abnormal morphology of female internal genitalia	999	CDH1	OMIM:167000
HP:0000008	Abnormal morphology of female internal genitalia	5071	PRKN	OMIM:167000
HP:0000008	Abnormal morphology of female internal genitalia	4978	OPCML	OMIM:167000
HP:0000008	Abnormal morphology of female internal genitalia	2064	ERBB2	OMIM:167000
HP:0000008	Abnormal morphology of female internal genitalia	1281	COL3A1	OMIM:130050
HP:0000008	Abnormal morphology of female internal genitalia	1281	COL3A1	ORPHA:286
HP:0000008	Abnormal morphology of female internal genitalia	4088	SMAD3	OMIM:613795
HP:0000008	Abnormal morphology of female internal genitalia	4665	NAB2	ORPHA:2126
HP:0000008	Abnormal morphology of female internal genitalia	6778	STAT6	ORPHA:2126
HP:0000008	Abnormal morphology of female internal genitalia	9184	BUB3	ORPHA:1052
HP:0000008	Abnormal morphology of female internal genitalia	699	BUB1	ORPHA:1052
HP:0000008	Abnormal morphology of female internal genitalia	9702	CEP57	ORPHA:1052
HP:0000008	Abnormal morphology of female internal genitalia	9319	TRIP13	ORPHA:1052
HP:0000008	Abnormal morphology of female internal genitalia	701	BUB1B	ORPHA:1052
HP:0000008	Abnormal morphology of female internal genitalia	2271	FH	ORPHA:523
HP:0000008	Abnormal morphology of female internal genitalia	1288	COL4A6	ORPHA:1018
HP:0000008	Abnormal morphology of female internal genitalia	1287	COL4A5	ORPHA:1018
HP:0000008	Abnormal morphology of female internal genitalia	7046	TGFBR1	ORPHA:60030
HP:0000008	Abnormal morphology of female internal genitalia	10526	IPO8	ORPHA:60030
HP:0000008	Abnormal morphology of female internal genitalia	7048	TGFBR2	ORPHA:60030
HP:0000008	Abnormal morphology of female internal genitalia	4693	NDP	ORPHA:649
HP:0000008	Abnormal morphology of female internal genitalia	1583	CYP11A1	ORPHA:289548
HP:0000008	Abnormal morphology of female internal genitalia	1583	CYP11A1	ORPHA:168558
HP:0000008	Abnormal morphology of female internal genitalia	7026	NR2F2	OMIM:618901
HP:0000008	Abnormal morphology of female internal genitalia	57647	DHX37	OMIM:273250
HP:0000008	Abnormal morphology of female internal genitalia	57647	DHX37	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	6845	VAMP7	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	51741	WWOX	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	4214	MAP3K1	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	58524	DMRT3	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	23414	ZFPM2	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	190	NR0B1	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	2626	GATA4	ORPHA:251510
HP:0000008	Abnormal morphology of female internal genitalia	6716	SRD5A2	ORPHA:753
HP:0010220	Abnormality of the epiphysis of the 2nd metacarpal	6299	SALL1	OMIM:107480
HP:0030657	Umbilical cord hematoma	2165	F13B	ORPHA:331
HP:0030657	Umbilical cord hematoma	2162	F13A1	ORPHA:331
HP:0030657	Umbilical cord hematoma	5054	SERPINE1	ORPHA:465
HP:0030663	Optically empty vitreous	3769	KCNJ13	OMIM:193230
HP:0030663	Optically empty vitreous	1280	COL2A1	OMIM:609508
HP:0030663	Optically empty vitreous	1462	VCAN	OMIM:143200
HP:0000010	Recurrent urinary tract infections	23394	ADNP	ORPHA:404448
HP:0000010	Recurrent urinary tract infections	23394	ADNP	OMIM:615873
HP:0000010	Recurrent urinary tract infections	695	BTK	OMIM:300755
HP:0000010	Recurrent urinary tract infections	695	BTK	OMIM:307200
HP:0000010	Recurrent urinary tract infections	9860	LRIG2	OMIM:615112
HP:0000010	Recurrent urinary tract infections	9860	LRIG2	ORPHA:2704
HP:0000010	Recurrent urinary tract infections	1859	DYRK1A	ORPHA:268261
HP:0000010	Recurrent urinary tract infections	4683	NBN	OMIM:251260
HP:0000010	Recurrent urinary tract infections	4860	PNP	OMIM:613179
HP:0000010	Recurrent urinary tract infections	3426	CFI	OMIM:610984
HP:0000010	Recurrent urinary tract infections	1131	CHRM3	ORPHA:2970
HP:0000010	Recurrent urinary tract infections	113235	SLC46A1	ORPHA:90045
HP:0000010	Recurrent urinary tract infections	3909	LAMA3	ORPHA:79404
HP:0000010	Recurrent urinary tract infections	3918	LAMC2	ORPHA:79404
HP:0000010	Recurrent urinary tract infections	3914	LAMB3	ORPHA:79404
HP:0000010	Recurrent urinary tract infections	4125	MAN2B1	ORPHA:309282
HP:0000010	Recurrent urinary tract infections	11136	SLC7A9	OMIM:220100
HP:0000010	Recurrent urinary tract infections	6519	SLC3A1	OMIM:220100
HP:0000010	Recurrent urinary tract infections	3106	HLA-B	ORPHA:29207
HP:0000010	Recurrent urinary tract infections	1387	CREBBP	ORPHA:353281
HP:0000010	Recurrent urinary tract infections	1387	CREBBP	ORPHA:353277
HP:0000010	Recurrent urinary tract infections	9578	CDC42BPB	OMIM:619841
HP:0000010	Recurrent urinary tract infections	613	BCR	ORPHA:261330
HP:0000010	Recurrent urinary tract infections	1399	CRKL	ORPHA:261330
HP:0000010	Recurrent urinary tract infections	5594	MAPK1	ORPHA:261330
HP:0000010	Recurrent urinary tract infections	3313	HSPA9	OMIM:616854
HP:0000010	Recurrent urinary tract infections	10686	CLDN16	OMIM:248250
HP:0000010	Recurrent urinary tract infections	2033	EP300	ORPHA:353284
HP:0000010	Recurrent urinary tract infections	6595	SMARCA2	OMIM:619293
HP:0000010	Recurrent urinary tract infections	51726	DNAJB11	ORPHA:730
HP:0000010	Recurrent urinary tract infections	23193	GANAB	ORPHA:730
HP:0000010	Recurrent urinary tract infections	5310	PKD1	ORPHA:730
HP:0000010	Recurrent urinary tract infections	5311	PKD2	ORPHA:730
HP:0000010	Recurrent urinary tract infections	5311	PKD2	OMIM:613095
HP:0000010	Recurrent urinary tract infections	29880	ALG5	ORPHA:730
HP:0000010	Recurrent urinary tract infections	9742	IFT140	ORPHA:730
HP:0000010	Recurrent urinary tract infections	79796	ALG9	ORPHA:730
HP:0000010	Recurrent urinary tract infections	80114	BICC1	ORPHA:730
HP:0000010	Recurrent urinary tract infections	284058	KANSL1	ORPHA:363958
HP:0000010	Recurrent urinary tract infections	284058	KANSL1	ORPHA:363965
HP:0000010	Recurrent urinary tract infections	284058	KANSL1	OMIM:610443
HP:0000010	Recurrent urinary tract infections	54496	PRMT7	OMIM:617157
HP:0000010	Recurrent urinary tract infections	1136	CHRNA3	OMIM:191800
HP:0000010	Recurrent urinary tract infections	92579	G6PC3	OMIM:612541
HP:0000010	Recurrent urinary tract infections	284252	KCTD1	ORPHA:2036
HP:0000010	Recurrent urinary tract infections	2019	EN1	OMIM:619218
HP:0000010	Recurrent urinary tract infections	672	BRCA1	ORPHA:84
HP:0000010	Recurrent urinary tract infections	10459	MAD2L2	ORPHA:84
HP:0000010	Recurrent urinary tract infections	7516	XRCC2	ORPHA:84
HP:0000010	Recurrent urinary tract infections	29089	UBE2T	ORPHA:84
HP:0000010	Recurrent urinary tract infections	675	BRCA2	ORPHA:84
HP:0000010	Recurrent urinary tract infections	55120	FANCL	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2177	FANCD2	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2175	FANCA	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2187	FANCB	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2176	FANCC	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2178	FANCE	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2188	FANCF	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2189	FANCG	ORPHA:84
HP:0000010	Recurrent urinary tract infections	5888	RAD51	ORPHA:84
HP:0000010	Recurrent urinary tract infections	5889	RAD51C	ORPHA:84
HP:0000010	Recurrent urinary tract infections	55159	RFWD3	ORPHA:84
HP:0000010	Recurrent urinary tract infections	83990	BRIP1	ORPHA:84
HP:0000010	Recurrent urinary tract infections	57697	FANCM	ORPHA:84
HP:0000010	Recurrent urinary tract infections	79728	PALB2	ORPHA:84
HP:0000010	Recurrent urinary tract infections	84464	SLX4	ORPHA:84
HP:0000010	Recurrent urinary tract infections	2072	ERCC4	ORPHA:84
HP:0000010	Recurrent urinary tract infections	55215	FANCI	ORPHA:84
HP:0000010	Recurrent urinary tract infections	546	ATRX	ORPHA:847
HP:0000010	Recurrent urinary tract infections	8626	TP63	ORPHA:93930
HP:0000010	Recurrent urinary tract infections	3670	ISL1	ORPHA:93930
HP:0000010	Recurrent urinary tract infections	3209	HOXA13	ORPHA:2438
HP:0000010	Recurrent urinary tract infections	4478	MSN	OMIM:300988
HP:0000010	Recurrent urinary tract infections	10524	KAT5	OMIM:619103
HP:0000010	Recurrent urinary tract infections	3560	IL2RB	OMIM:618495
HP:0000010	Recurrent urinary tract infections	84818	IL17RC	ORPHA:1334
HP:0000010	Recurrent urinary tract infections	64581	CLEC7A	ORPHA:1334
HP:0000010	Recurrent urinary tract infections	23765	IL17RA	ORPHA:1334
HP:0000010	Recurrent urinary tract infections	10758	TRAF3IP2	ORPHA:1334
HP:0000010	Recurrent urinary tract infections	112744	IL17F	ORPHA:1334
HP:0000010	Recurrent urinary tract infections	149461	CLDN19	OMIM:248190
HP:0000010	Recurrent urinary tract infections	60495	HPSE2	ORPHA:2704
HP:0000010	Recurrent urinary tract infections	60495	HPSE2	OMIM:236730
HP:0000010	Recurrent urinary tract infections	1380	CR2	OMIM:614699
HP:0000010	Recurrent urinary tract infections	6304	SATB1	OMIM:619229
HP:0000010	Recurrent urinary tract infections	8883	NAE1	OMIM:620210
HP:0000010	Recurrent urinary tract infections	28982	FLVCR1	OMIM:609033
HP:0000010	Recurrent urinary tract infections	7840	ALMS1	ORPHA:64
HP:0000010	Recurrent urinary tract infections	538	ATP7A	ORPHA:198
HP:0000010	Recurrent urinary tract infections	84265	POLR3GL	OMIM:619234
HP:0000010	Recurrent urinary tract infections	54809	SAMD9	OMIM:617053
HP:0000010	Recurrent urinary tract infections	54914	FOCAD	OMIM:619991
HP:0000010	Recurrent urinary tract infections	4261	CIITA	OMIM:209920
HP:0000010	Recurrent urinary tract infections	5994	RFXAP	OMIM:209920
HP:0000010	Recurrent urinary tract infections	5993	RFX5	OMIM:209920
HP:0000010	Recurrent urinary tract infections	8625	RFXANK	OMIM:209920
HP:0000010	Recurrent urinary tract infections	5580	PRKCD	OMIM:615559
HP:0000010	Recurrent urinary tract infections	6804	STX1A	ORPHA:904
HP:0000010	Recurrent urinary tract infections	7461	CLIP2	ORPHA:904
HP:0000010	Recurrent urinary tract infections	84277	DNAJC30	ORPHA:904
HP:0000010	Recurrent urinary tract infections	8468	FKBP6	ORPHA:904
HP:0000010	Recurrent urinary tract infections	5982	RFC2	ORPHA:904
HP:0000010	Recurrent urinary tract infections	2969	GTF2I	ORPHA:904
HP:0000010	Recurrent urinary tract infections	3984	LIMK1	ORPHA:904
HP:0000010	Recurrent urinary tract infections	9569	GTF2IRD1	ORPHA:904
HP:0000010	Recurrent urinary tract infections	155382	VPS37D	ORPHA:904
HP:0000010	Recurrent urinary tract infections	155368	METTL27	ORPHA:904
HP:0000010	Recurrent urinary tract infections	114049	BUD23	ORPHA:904
HP:0000010	Recurrent urinary tract infections	7458	EIF4H	ORPHA:904
HP:0000010	Recurrent urinary tract infections	84163	GTF2IRD2	ORPHA:904
HP:0000010	Recurrent urinary tract infections	9275	BCL7B	ORPHA:904
HP:0000010	Recurrent urinary tract infections	26608	TBL2	ORPHA:904
HP:0000010	Recurrent urinary tract infections	653361	NCF1	ORPHA:904
HP:0000010	Recurrent urinary tract infections	135886	TMEM270	ORPHA:904
HP:0000010	Recurrent urinary tract infections	51085	MLXIPL	ORPHA:904
HP:0000010	Recurrent urinary tract infections	51085	MLXIPL	OMIM:194050
HP:0000010	Recurrent urinary tract infections	9031	BAZ1B	ORPHA:904
HP:0000010	Recurrent urinary tract infections	2006	ELN	ORPHA:904
HP:0000010	Recurrent urinary tract infections	2006	ELN	OMIM:194050
HP:0000010	Recurrent urinary tract infections	54796	BNC2	ORPHA:93110
HP:0000010	Recurrent urinary tract infections	10056	FARSB	OMIM:613658
HP:0000010	Recurrent urinary tract infections	493856	CISD2	ORPHA:3463
HP:0000010	Recurrent urinary tract infections	7466	WFS1	ORPHA:3463
HP:0000010	Recurrent urinary tract infections	9380	GRHPR	ORPHA:93599
HP:0000010	Recurrent urinary tract infections	5293	PIK3CD	ORPHA:221139
HP:0000010	Recurrent urinary tract infections	90417	KNSTRN	ORPHA:221139
HP:0000010	Recurrent urinary tract infections	8936	WASF1	OMIM:618707
HP:0000010	Recurrent urinary tract infections	189	AGXT	ORPHA:93598
HP:0000010	Recurrent urinary tract infections	2131	EXT1	ORPHA:502
HP:0000010	Recurrent urinary tract infections	7227	TRPS1	ORPHA:502
HP:0000010	Recurrent urinary tract infections	79228	THOC6	ORPHA:363444
HP:0000010	Recurrent urinary tract infections	79228	THOC6	OMIM:613680
HP:0000010	Recurrent urinary tract infections	100147744	RNU7-1	OMIM:619487
HP:0000010	Recurrent urinary tract infections	374879	ZNF699	OMIM:619488
HP:0000010	Recurrent urinary tract infections	5971	RELB	OMIM:617585
HP:0000010	Recurrent urinary tract infections	10398	MYL9	OMIM:619365
HP:0000010	Recurrent urinary tract infections	10293	TRAIP	OMIM:616777
HP:0000010	Recurrent urinary tract infections	7148	TNXB	OMIM:615963
HP:0000010	Recurrent urinary tract infections	9562	MINPP1	OMIM:619527
HP:0000010	Recurrent urinary tract infections	5294	PIK3CG	OMIM:619802
HP:0000010	Recurrent urinary tract infections	11128	POLR3A	ORPHA:3455
HP:0000010	Recurrent urinary tract infections	199221	DZIP1L	ORPHA:731
HP:0000010	Recurrent urinary tract infections	5314	PKHD1	ORPHA:731
HP:0000010	Recurrent urinary tract infections	55343	SLC35C1	ORPHA:99843
HP:0000010	Recurrent urinary tract infections	353	APRT	ORPHA:976
HP:0000010	Recurrent urinary tract infections	9968	MED12	OMIM:301068
HP:0000010	Recurrent urinary tract infections	403	ARL3	OMIM:618161
HP:0000010	Recurrent urinary tract infections	6524	SLC5A2	ORPHA:69076
HP:0000010	Recurrent urinary tract infections	7994	KAT6A	OMIM:616268
HP:0000010	Recurrent urinary tract infections	64321	SOX17	OMIM:613674
HP:0000010	Recurrent urinary tract infections	4052	LTBP1	ORPHA:90349
HP:0000010	Recurrent urinary tract infections	30008	EFEMP2	ORPHA:90349
HP:0000010	Recurrent urinary tract infections	10516	FBLN5	ORPHA:90349
HP:0000010	Recurrent urinary tract infections	3110	MNX1	OMIM:176450
HP:0000010	Recurrent urinary tract infections	2303	FOXC2	ORPHA:33001
HP:0000010	Recurrent urinary tract infections	3514	IGKC	ORPHA:183675
HP:0000010	Recurrent urinary tract infections	3501	IGHG2	ORPHA:183675
HP:0000010	Recurrent urinary tract infections	641	BLM	ORPHA:125
HP:0000010	Recurrent urinary tract infections	56246	MRAP	ORPHA:361
HP:0000010	Recurrent urinary tract infections	6770	STAR	ORPHA:361
HP:0000010	Recurrent urinary tract infections	4158	MC2R	ORPHA:361
HP:0000010	Recurrent urinary tract infections	23530	NNT	ORPHA:361
HP:0000010	Recurrent urinary tract infections	10587	TXNRD2	ORPHA:361
HP:0000010	Recurrent urinary tract infections	4001	LMNB1	ORPHA:99027
HP:0000010	Recurrent urinary tract infections	5184	PEPD	ORPHA:742
HP:0000010	Recurrent urinary tract infections	85358	SHANK3	ORPHA:48652
HP:0000011	Neurogenic bladder	91949	COG7	OMIM:608779
HP:0000011	Neurogenic bladder	8504	PEX3	OMIM:617370
HP:0000011	Neurogenic bladder	10466	COG5	ORPHA:263487
HP:0000011	Neurogenic bladder	10466	COG5	OMIM:613612
HP:0000011	Neurogenic bladder	92935	MARS2	OMIM:611390
HP:0000011	Neurogenic bladder	55823	VPS11	OMIM:616683
HP:0000011	Neurogenic bladder	55823	VPS11	ORPHA:466934
HP:0000011	Neurogenic bladder	1161	ERCC8	ORPHA:90324
HP:0000011	Neurogenic bladder	2074	ERCC6	ORPHA:90324
HP:0000011	Neurogenic bladder	6885	MAP3K7	OMIM:617137
HP:0000011	Neurogenic bladder	400916	CHCHD10	OMIM:615911
HP:0000011	Neurogenic bladder	4287	ATXN3	ORPHA:276244
HP:0000011	Neurogenic bladder	4287	ATXN3	ORPHA:276241
HP:0000011	Neurogenic bladder	4287	ATXN3	ORPHA:276238
HP:0000011	Neurogenic bladder	493856	CISD2	OMIM:604928
HP:0000011	Neurogenic bladder	51112	TRAPPC12	ORPHA:500144
HP:0000011	Neurogenic bladder	51112	TRAPPC12	OMIM:617669
HP:0000011	Neurogenic bladder	4854	NOTCH3	OMIM:130720
HP:0000011	Neurogenic bladder	2782	GNB1	OMIM:616973
HP:0000011	Neurogenic bladder	2050	EPHB4	ORPHA:137667
HP:0000011	Neurogenic bladder	5921	RASA1	ORPHA:137667
HP:0000011	Neurogenic bladder	9915	ARNT2	OMIM:615926
HP:0000011	Neurogenic bladder	5354	PLP1	ORPHA:280229
HP:0000011	Neurogenic bladder	10667	FARS2	ORPHA:466722
HP:0000011	Neurogenic bladder	23499	MACF1	ORPHA:572013
HP:0000011	Neurogenic bladder	387119	CEP85L	ORPHA:572013
HP:0000011	Neurogenic bladder	6904	TBCD	ORPHA:496641
HP:0000011	Neurogenic bladder	1185	CLCN6	OMIM:619173
HP:0000011	Neurogenic bladder	1136	CHRNA3	OMIM:191800
HP:0000011	Neurogenic bladder	64834	ELOVL1	OMIM:618527
HP:0000011	Neurogenic bladder	123263	MTFMT	OMIM:618248
HP:0000011	Neurogenic bladder	2019	EN1	OMIM:619218
HP:0000011	Neurogenic bladder	3110	MNX1	OMIM:176450
HP:0000011	Neurogenic bladder	2697	GJA1	ORPHA:2710
HP:0000011	Neurogenic bladder	2697	GJA1	OMIM:164200
HP:0000011	Neurogenic bladder	2632	GBE1	ORPHA:206583
HP:0000011	Neurogenic bladder	2632	GBE1	OMIM:263570
HP:0000011	Neurogenic bladder	81839	VANGL1	OMIM:600145
HP:0000011	Neurogenic bladder	7466	WFS1	OMIM:222300
HP:0000011	Neurogenic bladder	23400	ATP13A2	ORPHA:513436
HP:0000011	Neurogenic bladder	3980	LIG3	OMIM:619780
HP:0000011	Neurogenic bladder	25793	FBXO7	ORPHA:171695
HP:0000011	Neurogenic bladder	6622	SNCA	ORPHA:171695
HP:0000011	Neurogenic bladder	55331	ACER3	OMIM:617762
HP:0000011	Neurogenic bladder	80199	FUZ	ORPHA:1136
HP:0000011	Neurogenic bladder	84667	HES7	OMIM:613686
HP:0000011	Neurogenic bladder	93627	TBCK	ORPHA:488632
HP:0000011	Neurogenic bladder	5498	PPOX	ORPHA:79473
HP:0000012	Urinary urgency	9897	WASHC5	OMIM:603563
HP:0000012	Urinary urgency	9897	WASHC5	ORPHA:100989
HP:0000012	Urinary urgency	51062	ATL1	ORPHA:100984
HP:0000012	Urinary urgency	51062	ATL1	OMIM:182600
HP:0000012	Urinary urgency	23111	SPART	OMIM:275900
HP:0000012	Urinary urgency	7840	ALMS1	ORPHA:64
HP:0000012	Urinary urgency	87178	PNPT1	ORPHA:101111
HP:0000012	Urinary urgency	87178	PNPT1	OMIM:608703
HP:0000012	Urinary urgency	65018	PINK1	OMIM:605909
HP:0000012	Urinary urgency	92935	MARS2	OMIM:611390
HP:0000012	Urinary urgency	92935	MARS2	ORPHA:314603
HP:0000012	Urinary urgency	6683	SPAST	ORPHA:100985
HP:0000012	Urinary urgency	6683	SPAST	OMIM:182601
HP:0000012	Urinary urgency	9860	LRIG2	OMIM:615112
HP:0000012	Urinary urgency	59341	TRPV4	OMIM:606071
HP:0000012	Urinary urgency	3748	KCNC3	ORPHA:98768
HP:0000012	Urinary urgency	27235	COQ2	OMIM:146500
HP:0000012	Urinary urgency	6687	SPG7	ORPHA:99013
HP:0000012	Urinary urgency	6687	SPG7	OMIM:607259
HP:0000012	Urinary urgency	23503	ZFYVE26	OMIM:270700
HP:0000012	Urinary urgency	25814	ATXN10	ORPHA:98761
HP:0000012	Urinary urgency	25814	ATXN10	OMIM:603516
HP:0000012	Urinary urgency	123606	NIPA1	OMIM:600363
HP:0000012	Urinary urgency	478	ATP1A3	OMIM:601338
HP:0000012	Urinary urgency	9442	MED27	OMIM:619286
HP:0000012	Urinary urgency	6253	RTN2	OMIM:604805
HP:0000012	Urinary urgency	6253	RTN2	ORPHA:100993
HP:0000012	Urinary urgency	23400	ATP13A2	OMIM:617225
HP:0000012	Urinary urgency	27102	EIF2AK1	OMIM:618878
HP:0000012	Urinary urgency	26278	SACS	OMIM:270550
HP:0000012	Urinary urgency	80208	SPG11	OMIM:604360
HP:0000012	Urinary urgency	5354	PLP1	OMIM:312080
HP:0000012	Urinary urgency	8913	CACNA1G	ORPHA:458803
HP:0000012	Urinary urgency	8913	CACNA1G	OMIM:616795
HP:0000012	Urinary urgency	215	ABCD1	ORPHA:139399
HP:0000012	Urinary urgency	3329	HSPD1	OMIM:605280
HP:0000012	Urinary urgency	3329	HSPD1	ORPHA:100994
HP:0000012	Urinary urgency	84188	FAR1	ORPHA:447753
HP:0000012	Urinary urgency	5832	ALDH18A1	ORPHA:447753
HP:0000012	Urinary urgency	5832	ALDH18A1	OMIM:601162
HP:0000012	Urinary urgency	51271	UBAP1	ORPHA:100993
HP:0000012	Urinary urgency	51271	UBAP1	OMIM:618418
HP:0000012	Urinary urgency	126129	CPT1C	ORPHA:444099
HP:0000012	Urinary urgency	3798	KIF5A	ORPHA:100991
HP:0000012	Urinary urgency	3798	KIF5A	OMIM:604187
HP:0000012	Urinary urgency	3839	KPNA3	ORPHA:171612
HP:0000012	Urinary urgency	84842	HPDL	OMIM:619027
HP:0000012	Urinary urgency	5297	PI4KA	OMIM:619621
HP:0000012	Urinary urgency	65055	REEP1	OMIM:610250
HP:0000012	Urinary urgency	2583	B4GALNT1	OMIM:609195
HP:0000012	Urinary urgency	1200	TPP1	OMIM:609270
HP:0000012	Urinary urgency	2783	GNB2	OMIM:619503
HP:0000012	Urinary urgency	2747	GLUD2	OMIM:168600
HP:0000012	Urinary urgency	126	ADH1C	OMIM:168600
HP:0000012	Urinary urgency	4137	MAPT	OMIM:168600
HP:0000012	Urinary urgency	2629	GBA1	OMIM:168600
HP:0000012	Urinary urgency	4929	NR4A2	OMIM:168600
HP:0000012	Urinary urgency	6908	TBP	OMIM:168600
HP:0000012	Urinary urgency	4576	MT-TT	OMIM:168600
HP:0000012	Urinary urgency	9627	SNCAIP	OMIM:168600
HP:0000012	Urinary urgency	6311	ATXN2	OMIM:168600
HP:0000012	Urinary urgency	6315	ATXN8OS	OMIM:168600
HP:0000012	Urinary urgency	6622	SNCA	OMIM:168601
HP:0000012	Urinary urgency	79152	FA2H	OMIM:612319
HP:0000012	Urinary urgency	4001	LMNB1	ORPHA:99027
HP:0000014	Abnormality of the bladder	6772	STAT1	ORPHA:391487
HP:0000014	Abnormality of the bladder	10043	TOM1	ORPHA:391487
HP:0000014	Abnormality of the bladder	823	CAPN1	ORPHA:488594
HP:0000014	Abnormality of the bladder	113189	CHST14	ORPHA:2953
HP:0000014	Abnormality of the bladder	29940	DSE	ORPHA:2953
HP:0000014	Abnormality of the bladder	91949	COG7	OMIM:608779
HP:0000014	Abnormality of the bladder	8504	PEX3	OMIM:617370
HP:0000014	Abnormality of the bladder	10466	COG5	ORPHA:263487
HP:0000014	Abnormality of the bladder	10466	COG5	OMIM:613612
HP:0000014	Abnormality of the bladder	92935	MARS2	OMIM:611390
HP:0000014	Abnormality of the bladder	55823	VPS11	OMIM:616683
HP:0000014	Abnormality of the bladder	55823	VPS11	ORPHA:466934
HP:0000014	Abnormality of the bladder	1161	ERCC8	ORPHA:90324
HP:0000014	Abnormality of the bladder	2074	ERCC6	ORPHA:90324
HP:0000014	Abnormality of the bladder	6885	MAP3K7	OMIM:617137
HP:0000014	Abnormality of the bladder	400916	CHCHD10	OMIM:615911
HP:0000014	Abnormality of the bladder	4287	ATXN3	ORPHA:276244
HP:0000014	Abnormality of the bladder	4287	ATXN3	ORPHA:276241
HP:0000014	Abnormality of the bladder	4287	ATXN3	ORPHA:276238
HP:0000014	Abnormality of the bladder	493856	CISD2	OMIM:604928
HP:0000014	Abnormality of the bladder	51112	TRAPPC12	ORPHA:500144
HP:0000014	Abnormality of the bladder	51112	TRAPPC12	OMIM:617669
HP:0000014	Abnormality of the bladder	4854	NOTCH3	OMIM:130720
HP:0000014	Abnormality of the bladder	2782	GNB1	OMIM:616973
HP:0000014	Abnormality of the bladder	2050	EPHB4	ORPHA:137667
HP:0000014	Abnormality of the bladder	5921	RASA1	ORPHA:137667
HP:0000014	Abnormality of the bladder	9915	ARNT2	OMIM:615926
HP:0000014	Abnormality of the bladder	5354	PLP1	ORPHA:280229
HP:0000014	Abnormality of the bladder	10667	FARS2	ORPHA:466722
HP:0000014	Abnormality of the bladder	23499	MACF1	ORPHA:572013
HP:0000014	Abnormality of the bladder	387119	CEP85L	ORPHA:572013
HP:0000014	Abnormality of the bladder	6904	TBCD	ORPHA:496641
HP:0000014	Abnormality of the bladder	1185	CLCN6	OMIM:619173
HP:0000014	Abnormality of the bladder	1136	CHRNA3	OMIM:191800
HP:0000014	Abnormality of the bladder	64834	ELOVL1	OMIM:618527
HP:0000014	Abnormality of the bladder	123263	MTFMT	OMIM:618248
HP:0000014	Abnormality of the bladder	2019	EN1	OMIM:619218
HP:0000014	Abnormality of the bladder	3110	MNX1	OMIM:176450
HP:0000014	Abnormality of the bladder	2697	GJA1	ORPHA:2710
HP:0000014	Abnormality of the bladder	2697	GJA1	OMIM:164200
HP:0000014	Abnormality of the bladder	2632	GBE1	ORPHA:206583
HP:0000014	Abnormality of the bladder	2632	GBE1	OMIM:263570
HP:0000014	Abnormality of the bladder	81839	VANGL1	OMIM:600145
HP:0000014	Abnormality of the bladder	7466	WFS1	OMIM:222300
HP:0000014	Abnormality of the bladder	23400	ATP13A2	ORPHA:513436
HP:0000014	Abnormality of the bladder	3980	LIG3	OMIM:619780
HP:0000014	Abnormality of the bladder	25793	FBXO7	ORPHA:171695
HP:0000014	Abnormality of the bladder	6622	SNCA	ORPHA:171695
HP:0000014	Abnormality of the bladder	55331	ACER3	OMIM:617762
HP:0000014	Abnormality of the bladder	80199	FUZ	ORPHA:1136
HP:0000014	Abnormality of the bladder	84667	HES7	OMIM:613686
HP:0000014	Abnormality of the bladder	93627	TBCK	ORPHA:488632
HP:0000014	Abnormality of the bladder	5498	PPOX	ORPHA:79473
HP:0000014	Abnormality of the bladder	9897	WASHC5	OMIM:603563
HP:0000014	Abnormality of the bladder	9897	WASHC5	ORPHA:100989
HP:0000014	Abnormality of the bladder	51062	ATL1	ORPHA:100984
HP:0000014	Abnormality of the bladder	51062	ATL1	OMIM:182600
HP:0000014	Abnormality of the bladder	23111	SPART	OMIM:275900
HP:0000014	Abnormality of the bladder	7840	ALMS1	ORPHA:64
HP:0000014	Abnormality of the bladder	87178	PNPT1	ORPHA:101111
HP:0000014	Abnormality of the bladder	87178	PNPT1	OMIM:608703
HP:0000014	Abnormality of the bladder	65018	PINK1	OMIM:605909
HP:0000014	Abnormality of the bladder	6683	SPAST	ORPHA:100985
HP:0000014	Abnormality of the bladder	6683	SPAST	OMIM:182601
HP:0000014	Abnormality of the bladder	9860	LRIG2	OMIM:615112
HP:0000014	Abnormality of the bladder	59341	TRPV4	OMIM:606071
HP:0000014	Abnormality of the bladder	3748	KCNC3	ORPHA:98768
HP:0000014	Abnormality of the bladder	27235	COQ2	OMIM:146500
HP:0000014	Abnormality of the bladder	6687	SPG7	ORPHA:99013
HP:0000014	Abnormality of the bladder	6687	SPG7	OMIM:607259
HP:0000014	Abnormality of the bladder	23503	ZFYVE26	OMIM:270700
HP:0000014	Abnormality of the bladder	25814	ATXN10	ORPHA:98761
HP:0000014	Abnormality of the bladder	25814	ATXN10	OMIM:603516
HP:0000014	Abnormality of the bladder	123606	NIPA1	OMIM:600363
HP:0000014	Abnormality of the bladder	478	ATP1A3	OMIM:601338
HP:0000014	Abnormality of the bladder	9442	MED27	OMIM:619286
HP:0000014	Abnormality of the bladder	6253	RTN2	OMIM:604805
HP:0000014	Abnormality of the bladder	6253	RTN2	ORPHA:100993
HP:0000014	Abnormality of the bladder	27102	EIF2AK1	OMIM:618878
HP:0000014	Abnormality of the bladder	26278	SACS	OMIM:270550
HP:0000014	Abnormality of the bladder	80208	SPG11	OMIM:604360
HP:0000014	Abnormality of the bladder	8913	CACNA1G	ORPHA:458803
HP:0000014	Abnormality of the bladder	8913	CACNA1G	OMIM:616795
HP:0000014	Abnormality of the bladder	215	ABCD1	ORPHA:139399
HP:0000014	Abnormality of the bladder	3329	HSPD1	OMIM:605280
HP:0000014	Abnormality of the bladder	3329	HSPD1	ORPHA:100994
HP:0000014	Abnormality of the bladder	84188	FAR1	ORPHA:447753
HP:0000014	Abnormality of the bladder	5832	ALDH18A1	ORPHA:447753
HP:0000014	Abnormality of the bladder	5832	ALDH18A1	OMIM:601162
HP:0000014	Abnormality of the bladder	51271	UBAP1	ORPHA:100993
HP:0000014	Abnormality of the bladder	51271	UBAP1	OMIM:618418
HP:0000014	Abnormality of the bladder	126129	CPT1C	ORPHA:444099
HP:0000014	Abnormality of the bladder	3798	KIF5A	ORPHA:100991
HP:0000014	Abnormality of the bladder	3798	KIF5A	OMIM:604187
HP:0000014	Abnormality of the bladder	3839	KPNA3	ORPHA:171612
HP:0000014	Abnormality of the bladder	84842	HPDL	OMIM:619027
HP:0000014	Abnormality of the bladder	5297	PI4KA	OMIM:619621
HP:0000014	Abnormality of the bladder	65055	REEP1	OMIM:610250
HP:0000014	Abnormality of the bladder	2583	B4GALNT1	OMIM:609195
HP:0000014	Abnormality of the bladder	1200	TPP1	OMIM:609270
HP:0000014	Abnormality of the bladder	2783	GNB2	OMIM:619503
HP:0000014	Abnormality of the bladder	2747	GLUD2	OMIM:168600
HP:0000014	Abnormality of the bladder	126	ADH1C	OMIM:168600
HP:0000014	Abnormality of the bladder	4137	MAPT	OMIM:168600
HP:0000014	Abnormality of the bladder	2629	GBA1	OMIM:168600
HP:0000014	Abnormality of the bladder	4929	NR4A2	OMIM:168600
HP:0000014	Abnormality of the bladder	6908	TBP	OMIM:168600
HP:0000014	Abnormality of the bladder	4576	MT-TT	OMIM:168600
HP:0000014	Abnormality of the bladder	9627	SNCAIP	OMIM:168600
HP:0000014	Abnormality of the bladder	6311	ATXN2	OMIM:168600
HP:0000014	Abnormality of the bladder	6315	ATXN8OS	OMIM:168600
HP:0000014	Abnormality of the bladder	79152	FA2H	OMIM:612319
HP:0000014	Abnormality of the bladder	4001	LMNB1	ORPHA:99027
HP:0000014	Abnormality of the bladder	595	CCND1	ORPHA:29073
HP:0000014	Abnormality of the bladder	1131	CHRM3	ORPHA:2970
HP:0000014	Abnormality of the bladder	11160	ERLIN2	ORPHA:247604
HP:0000014	Abnormality of the bladder	1277	COL1A1	ORPHA:287
HP:0000014	Abnormality of the bladder	1289	COL5A1	ORPHA:287
HP:0000014	Abnormality of the bladder	1290	COL5A2	ORPHA:287
HP:0000014	Abnormality of the bladder	538	ATP7A	ORPHA:565
HP:0000014	Abnormality of the bladder	538	ATP7A	ORPHA:198
HP:0000014	Abnormality of the bladder	538	ATP7A	OMIM:304150
HP:0000014	Abnormality of the bladder	5351	PLOD1	OMIM:225400
HP:0000014	Abnormality of the bladder	1278	COL1A2	OMIM:617821
HP:0000014	Abnormality of the bladder	57167	SALL4	ORPHA:959
HP:0000014	Abnormality of the bladder	6804	STX1A	ORPHA:904
HP:0000014	Abnormality of the bladder	7461	CLIP2	ORPHA:904
HP:0000014	Abnormality of the bladder	84277	DNAJC30	ORPHA:904
HP:0000014	Abnormality of the bladder	8468	FKBP6	ORPHA:904
HP:0000014	Abnormality of the bladder	5982	RFC2	ORPHA:904
HP:0000014	Abnormality of the bladder	2969	GTF2I	ORPHA:904
HP:0000014	Abnormality of the bladder	3984	LIMK1	ORPHA:904
HP:0000014	Abnormality of the bladder	9569	GTF2IRD1	ORPHA:904
HP:0000014	Abnormality of the bladder	155382	VPS37D	ORPHA:904
HP:0000014	Abnormality of the bladder	155368	METTL27	ORPHA:904
HP:0000014	Abnormality of the bladder	114049	BUD23	ORPHA:904
HP:0000014	Abnormality of the bladder	7458	EIF4H	ORPHA:904
HP:0000014	Abnormality of the bladder	84163	GTF2IRD2	ORPHA:904
HP:0000014	Abnormality of the bladder	9275	BCL7B	ORPHA:904
HP:0000014	Abnormality of the bladder	26608	TBL2	ORPHA:904
HP:0000014	Abnormality of the bladder	653361	NCF1	ORPHA:904
HP:0000014	Abnormality of the bladder	135886	TMEM270	ORPHA:904
HP:0000014	Abnormality of the bladder	9031	BAZ1B	ORPHA:904
HP:0000014	Abnormality of the bladder	55033	FKBP14	OMIM:614557
HP:0000014	Abnormality of the bladder	816	CAMK2B	OMIM:617799
HP:0000014	Abnormality of the bladder	100134444	KCNJ18	ORPHA:79102
HP:0000014	Abnormality of the bladder	2556	GABRA3	ORPHA:79102
HP:0000014	Abnormality of the bladder	779	CACNA1S	ORPHA:79102
HP:0000014	Abnormality of the bladder	3431	SP110	ORPHA:79124
HP:0000014	Abnormality of the bladder	7040	TGFB1	ORPHA:1328
HP:0000014	Abnormality of the bladder	5621	PRNP	OMIM:600072
HP:0000014	Abnormality of the bladder	2131	EXT1	ORPHA:321
HP:0000014	Abnormality of the bladder	2132	EXT2	ORPHA:321
HP:0000014	Abnormality of the bladder	171023	ASXL1	ORPHA:97297
HP:0000014	Abnormality of the bladder	4665	NAB2	ORPHA:2126
HP:0000014	Abnormality of the bladder	6778	STAT6	ORPHA:2126
HP:0000014	Abnormality of the bladder	291	SLC25A4	ORPHA:254892
HP:0000014	Abnormality of the bladder	5428	POLG	ORPHA:254892
HP:0000014	Abnormality of the bladder	56652	TWNK	ORPHA:254892
HP:0000014	Abnormality of the bladder	11232	POLG2	ORPHA:254892
HP:0000014	Abnormality of the bladder	50484	RRM2B	ORPHA:254892
HP:0000014	Abnormality of the bladder	8398	PLA2G6	OMIM:612953
HP:0000014	Abnormality of the bladder	1621	DBH	ORPHA:230
HP:0000014	Abnormality of the bladder	1621	DBH	OMIM:223360
HP:0000014	Abnormality of the bladder	353	APRT	ORPHA:976
HP:0000014	Abnormality of the bladder	55906	ZC4H2	OMIM:301041
HP:0000014	Abnormality of the bladder	6513	SLC2A1	ORPHA:64280
HP:0000014	Abnormality of the bladder	2562	GABRB3	ORPHA:64280
HP:0000014	Abnormality of the bladder	2554	GABRA1	ORPHA:64280
HP:0000014	Abnormality of the bladder	8912	CACNA1H	ORPHA:64280
HP:0000014	Abnormality of the bladder	8629	JRK	ORPHA:64280
HP:0000014	Abnormality of the bladder	2566	GABRG2	ORPHA:64280
HP:0000014	Abnormality of the bladder	340533	NEXMIF	OMIM:300912
HP:0000014	Abnormality of the bladder	23345	SYNE1	ORPHA:88644
HP:0000014	Abnormality of the bladder	23446	SLC44A1	OMIM:618868
HP:0000014	Abnormality of the bladder	22880	MORC2	OMIM:616688
HP:0000014	Abnormality of the bladder	22880	MORC2	ORPHA:466768
HP:0000014	Abnormality of the bladder	57704	GBA2	ORPHA:352641
HP:0000014	Abnormality of the bladder	57704	GBA2	ORPHA:320391
HP:0000014	Abnormality of the bladder	57704	GBA2	OMIM:614409
HP:0000014	Abnormality of the bladder	1786	DNMT1	ORPHA:314404
HP:0000014	Abnormality of the bladder	4803	NGF	OMIM:608654
HP:0000014	Abnormality of the bladder	57216	VANGL2	OMIM:182940
HP:0000014	Abnormality of the bladder	6347	CCL2	OMIM:182940
HP:0000014	Abnormality of the bladder	6862	TBXT	OMIM:182940
HP:0000014	Abnormality of the bladder	274	BIN1	ORPHA:169189
HP:0000014	Abnormality of the bladder	64419	MTMR14	ORPHA:169189
HP:0000014	Abnormality of the bladder	4618	MYF6	ORPHA:169189
HP:0000014	Abnormality of the bladder	1785	DNM2	ORPHA:169189
HP:0000014	Abnormality of the bladder	6261	RYR1	ORPHA:169189
HP:0000014	Abnormality of the bladder	5660	PSAP	OMIM:249900
HP:0000014	Abnormality of the bladder	5660	PSAP	ORPHA:309271
HP:0000014	Abnormality of the bladder	5660	PSAP	ORPHA:309263
HP:0000014	Abnormality of the bladder	5660	PSAP	ORPHA:309256
HP:0000014	Abnormality of the bladder	3074	HEXB	ORPHA:309162
HP:0000014	Abnormality of the bladder	3074	HEXB	OMIM:268800
HP:0000014	Abnormality of the bladder	10479	SLC9A6	OMIM:300243
HP:0000014	Abnormality of the bladder	81790	RNF170	OMIM:619686
HP:0000014	Abnormality of the bladder	6335	SCN9A	OMIM:243000
HP:0000014	Abnormality of the bladder	8878	SQSTM1	OMIM:617145
HP:0000014	Abnormality of the bladder	5610	EIF2AK2	OMIM:618877
HP:0000014	Abnormality of the bladder	128486	FITM2	OMIM:618635
HP:0000014	Abnormality of the bladder	2581	GALC	ORPHA:206448
HP:0000014	Abnormality of the bladder	3508	IGHMBP2	OMIM:604320
HP:0000014	Abnormality of the bladder	100996717	NOTCH2NLC	OMIM:603472
HP:0000014	Abnormality of the bladder	90161	HS6ST2	OMIM:301025
HP:0000014	Abnormality of the bladder	410	ARSA	ORPHA:309271
HP:0000014	Abnormality of the bladder	410	ARSA	ORPHA:309263
HP:0000014	Abnormality of the bladder	410	ARSA	ORPHA:309256
HP:0000014	Abnormality of the bladder	410	ARSA	OMIM:250100
HP:0000014	Abnormality of the bladder	2590	GALNT2	OMIM:618885
HP:0000014	Abnormality of the bladder	51319	RSRC1	OMIM:618402
HP:0000014	Abnormality of the bladder	54463	RETREG1	OMIM:613115
HP:0000014	Abnormality of the bladder	6575	SLC20A2	OMIM:213600
HP:0000014	Abnormality of the bladder	5155	PDGFB	OMIM:213600
HP:0000014	Abnormality of the bladder	5155	PDGFB	ORPHA:2495
HP:0000014	Abnormality of the bladder	5159	PDGFRB	OMIM:213600
HP:0000014	Abnormality of the bladder	549	AUH	OMIM:250950
HP:0000014	Abnormality of the bladder	7276	TTR	OMIM:105210
HP:0000014	Abnormality of the bladder	10273	STUB1	OMIM:618093
HP:0000014	Abnormality of the bladder	1137	CHRNA4	ORPHA:98784
HP:0000014	Abnormality of the bladder	1135	CHRNA2	ORPHA:98784
HP:0000014	Abnormality of the bladder	57010	CABP4	ORPHA:98784
HP:0000014	Abnormality of the bladder	1141	CHRNB2	ORPHA:98784
HP:0000014	Abnormality of the bladder	57582	KCNT1	ORPHA:98784
HP:0000014	Abnormality of the bladder	1392	CRH	ORPHA:98784
HP:0000014	Abnormality of the bladder	9681	DEPDC5	ORPHA:98784
HP:0000014	Abnormality of the bladder	57531	HACE1	ORPHA:464282
HP:0000014	Abnormality of the bladder	9420	CYP7B1	OMIM:270800
HP:0000014	Abnormality of the bladder	9839	ZEB2	ORPHA:261552
HP:0000014	Abnormality of the bladder	9839	ZEB2	ORPHA:261537
HP:0000014	Abnormality of the bladder	2332	FMR1	OMIM:300623
HP:0000014	Abnormality of the bladder	9907	AP5Z1	OMIM:613647
HP:0000014	Abnormality of the bladder	9907	AP5Z1	ORPHA:306511
HP:0000014	Abnormality of the bladder	4747	NEFL	ORPHA:101085
HP:0000014	Abnormality of the bladder	28982	FLVCR1	OMIM:609033
HP:0000014	Abnormality of the bladder	3752	KCND3	ORPHA:98772
HP:0000014	Abnormality of the bladder	2261	FGFR3	OMIM:616482
HP:0000014	Abnormality of the bladder	56978	PRDM8	OMIM:616640
HP:0000014	Abnormality of the bladder	23259	DDHD2	OMIM:615033
HP:0000014	Abnormality of the bladder	2548	GAA	OMIM:232300
HP:0000014	Abnormality of the bladder	92609	TIMM50	OMIM:617698
HP:0000014	Abnormality of the bladder	92609	TIMM50	ORPHA:505216
HP:0000014	Abnormality of the bladder	8314	BAP1	ORPHA:2495
HP:0000014	Abnormality of the bladder	4771	NF2	ORPHA:2495
HP:0000014	Abnormality of the bladder	6598	SMARCB1	ORPHA:2495
HP:0000014	Abnormality of the bladder	84231	TRAF7	ORPHA:2495
HP:0000014	Abnormality of the bladder	6608	SMO	ORPHA:2495
HP:0000014	Abnormality of the bladder	207	AKT1	ORPHA:2495
HP:0000014	Abnormality of the bladder	5290	PIK3CA	ORPHA:2495
HP:0000014	Abnormality of the bladder	7015	TERT	ORPHA:2495
HP:0000014	Abnormality of the bladder	51684	SUFU	ORPHA:2495
HP:0000014	Abnormality of the bladder	6605	SMARCE1	ORPHA:2495
HP:0000014	Abnormality of the bladder	80025	PANK2	OMIM:234200
HP:0000014	Abnormality of the bladder	724066	ATXN8	ORPHA:98760
HP:0000014	Abnormality of the bladder	51611	DPH5	OMIM:620070
HP:0000014	Abnormality of the bladder	283446	MYO1H	OMIM:619482
HP:0000014	Abnormality of the bladder	2521	FUS	ORPHA:300605
HP:0000014	Abnormality of the bladder	10280	SIGMAR1	ORPHA:300605
HP:0000014	Abnormality of the bladder	10558	SPTLC1	ORPHA:300605
HP:0000014	Abnormality of the bladder	57679	ALS2	ORPHA:300605
HP:0000014	Abnormality of the bladder	57679	ALS2	OMIM:205100
HP:0000014	Abnormality of the bladder	57679	ALS2	OMIM:607225
HP:0000014	Abnormality of the bladder	6305	SBF1	OMIM:615284
HP:0000014	Abnormality of the bladder	7204	TRIO	ORPHA:476126
HP:0000014	Abnormality of the bladder	3145	HMBS	OMIM:176000
HP:0000014	Abnormality of the bladder	3145	HMBS	ORPHA:79276
HP:0000014	Abnormality of the bladder	25978	CHMP2B	OMIM:600795
HP:0000014	Abnormality of the bladder	1315	COPB1	OMIM:619255
HP:0000014	Abnormality of the bladder	7415	VCP	ORPHA:329478
HP:0000014	Abnormality of the bladder	22943	DKK1	ORPHA:268882
HP:0000014	Abnormality of the bladder	2678	GGT1	OMIM:231950
HP:0000014	Abnormality of the bladder	8799	PEX11B	OMIM:614920
HP:0000014	Abnormality of the bladder	9757	KMT2B	OMIM:619934
HP:0000014	Abnormality of the bladder	6509	SLC1A4	ORPHA:447997
HP:0000014	Abnormality of the bladder	84978	FRMD5	OMIM:620094
HP:0000014	Abnormality of the bladder	5654	HTRA1	OMIM:600142
HP:0000014	Abnormality of the bladder	80217	CFAP43	OMIM:236690
HP:0000014	Abnormality of the bladder	7305	TYROBP	OMIM:221770
HP:0000014	Abnormality of the bladder	170302	ARX	OMIM:300419
HP:0000014	Abnormality of the bladder	57165	GJC2	OMIM:613206
HP:0000014	Abnormality of the bladder	55081	IFT57	OMIM:617927
HP:0000014	Abnormality of the bladder	3119	HLA-DQB1	OMIM:126200
HP:0000014	Abnormality of the bladder	5133	PDCD1	OMIM:126200
HP:0000014	Abnormality of the bladder	3123	HLA-DRB1	OMIM:126200
HP:0000014	Abnormality of the bladder	72	ACTG2	OMIM:155310
HP:0000014	Abnormality of the bladder	72	ACTG2	OMIM:619431
HP:0000014	Abnormality of the bladder	72	ACTG2	ORPHA:2604
HP:0000014	Abnormality of the bladder	72	ACTG2	ORPHA:2241
HP:0000014	Abnormality of the bladder	10398	MYL9	OMIM:619365
HP:0000014	Abnormality of the bladder	7080	NKX2-1	ORPHA:209905
HP:0000014	Abnormality of the bladder	8626	TP63	OMIM:604292
HP:0000014	Abnormality of the bladder	25970	SH2B1	ORPHA:261222
HP:0000014	Abnormality of the bladder	5076	PAX2	ORPHA:97362
HP:0000014	Abnormality of the bladder	5076	PAX2	ORPHA:1475
HP:0000014	Abnormality of the bladder	5076	PAX2	OMIM:120330
HP:0000014	Abnormality of the bladder	5087	PBX1	ORPHA:97362
HP:0000014	Abnormality of the bladder	5087	PBX1	OMIM:617641
HP:0000014	Abnormality of the bladder	10617	STAMBP	OMIM:614261
HP:0000014	Abnormality of the bladder	8294	H4C9	OMIM:619951
HP:0000014	Abnormality of the bladder	2138	EYA1	OMIM:113650
HP:0000014	Abnormality of the bladder	2138	EYA1	ORPHA:107
HP:0000014	Abnormality of the bladder	6495	SIX1	OMIM:113650
HP:0000014	Abnormality of the bladder	6495	SIX1	OMIM:605192
HP:0000014	Abnormality of the bladder	6495	SIX1	ORPHA:107
HP:0000014	Abnormality of the bladder	54892	NCAPG2	OMIM:618460
HP:0000014	Abnormality of the bladder	26128	KIFBP	OMIM:609460
HP:0000014	Abnormality of the bladder	1788	DNMT3A	OMIM:615879
HP:0000014	Abnormality of the bladder	5361	PLXNA1	OMIM:619955
HP:0000014	Abnormality of the bladder	3209	HOXA13	OMIM:140000
HP:0000014	Abnormality of the bladder	3209	HOXA13	ORPHA:2438
HP:0000014	Abnormality of the bladder	4774	NFIA	OMIM:613735
HP:0000014	Abnormality of the bladder	79813	EHMT1	ORPHA:96147
HP:0000014	Abnormality of the bladder	79813	EHMT1	ORPHA:261652
HP:0000014	Abnormality of the bladder	10992	SF3B2	OMIM:164210
HP:0000014	Abnormality of the bladder	85358	SHANK3	OMIM:606232
HP:0000014	Abnormality of the bladder	85358	SHANK3	ORPHA:48652
HP:0000014	Abnormality of the bladder	64324	NSD1	ORPHA:821
HP:0000014	Abnormality of the bladder	29072	SETD2	ORPHA:821
HP:0000014	Abnormality of the bladder	10297	APC2	ORPHA:821
HP:0000014	Abnormality of the bladder	55593	OTUD5	OMIM:301056
HP:0000014	Abnormality of the bladder	3190	HNRNPK	ORPHA:453504
HP:0000014	Abnormality of the bladder	3190	HNRNPK	OMIM:616580
HP:0000014	Abnormality of the bladder	3190	HNRNPK	ORPHA:352665
HP:0000014	Abnormality of the bladder	27125	AFF4	ORPHA:444077
HP:0000014	Abnormality of the bladder	27125	AFF4	OMIM:616368
HP:0000014	Abnormality of the bladder	80114	BICC1	OMIM:601331
HP:0000014	Abnormality of the bladder	6299	SALL1	OMIM:107480
HP:0000014	Abnormality of the bladder	6299	SALL1	ORPHA:857
HP:0000014	Abnormality of the bladder	4281	MID1	OMIM:300000
HP:0000014	Abnormality of the bladder	4281	MID1	ORPHA:2745
HP:0000014	Abnormality of the bladder	23498	HAAO	OMIM:617660
HP:0000014	Abnormality of the bladder	1387	CREBBP	ORPHA:353281
HP:0000014	Abnormality of the bladder	1387	CREBBP	ORPHA:353277
HP:0000014	Abnormality of the bladder	51506	UFC1	OMIM:618076
HP:0000014	Abnormality of the bladder	473	RERE	OMIM:616975
HP:0000014	Abnormality of the bladder	473	RERE	ORPHA:494344
HP:0000014	Abnormality of the bladder	3313	HSPA9	OMIM:616854
HP:0000014	Abnormality of the bladder	55215	FANCI	OMIM:609053
HP:0000014	Abnormality of the bladder	2033	EP300	ORPHA:353284
HP:0000014	Abnormality of the bladder	5080	PAX6	ORPHA:137902
HP:0000014	Abnormality of the bladder	5080	PAX6	OMIM:120200
HP:0000014	Abnormality of the bladder	6092	ROBO2	OMIM:610878
HP:0000014	Abnormality of the bladder	55636	CHD7	ORPHA:138
HP:0000014	Abnormality of the bladder	9723	SEMA3E	ORPHA:138
HP:0000014	Abnormality of the bladder	2188	FANCF	OMIM:603467
HP:0000014	Abnormality of the bladder	23005	MAPKBP1	OMIM:617271
HP:0000014	Abnormality of the bladder	2263	FGFR2	ORPHA:93260
HP:0000014	Abnormality of the bladder	2263	FGFR2	ORPHA:2363
HP:0000014	Abnormality of the bladder	51473	DCDC2	OMIM:617394
HP:0000014	Abnormality of the bladder	284058	KANSL1	ORPHA:363958
HP:0000014	Abnormality of the bladder	284058	KANSL1	ORPHA:363965
HP:0000014	Abnormality of the bladder	284058	KANSL1	OMIM:610443
HP:0000014	Abnormality of the bladder	9401	RECQL4	ORPHA:1225
HP:0000014	Abnormality of the bladder	10616	RBCK1	OMIM:615895
HP:0000014	Abnormality of the bladder	1108	CHD4	OMIM:617159
HP:0000014	Abnormality of the bladder	1312	COMT	ORPHA:567
HP:0000014	Abnormality of the bladder	221037	JMJD1C	ORPHA:567
HP:0000014	Abnormality of the bladder	2812	GP1BB	ORPHA:567
HP:0000014	Abnormality of the bladder	6239	RREB1	ORPHA:567
HP:0000014	Abnormality of the bladder	6899	TBX1	ORPHA:567
HP:0000014	Abnormality of the bladder	7290	HIRA	ORPHA:567
HP:0000014	Abnormality of the bladder	9632	SEC24C	ORPHA:567
HP:0000014	Abnormality of the bladder	7353	UFD1	ORPHA:567
HP:0000014	Abnormality of the bladder	421	ARVCF	ORPHA:567
HP:0000014	Abnormality of the bladder	25778	DSTYK	OMIM:610805
HP:0000014	Abnormality of the bladder	22827	PUF60	ORPHA:508488
HP:0000014	Abnormality of the bladder	10524	KAT5	OMIM:619103
HP:0000014	Abnormality of the bladder	1656	DDX6	OMIM:618653
HP:0000014	Abnormality of the bladder	5718	PSMD12	ORPHA:529962
HP:0000014	Abnormality of the bladder	2186	BPTF	ORPHA:529962
HP:0000014	Abnormality of the bladder	5277	PIGA	OMIM:300868
HP:0000014	Abnormality of the bladder	57178	ZMIZ1	OMIM:618659
HP:0000014	Abnormality of the bladder	8550	MAPKAPK5	OMIM:619869
HP:0000014	Abnormality of the bladder	80781	COL18A1	ORPHA:1571
HP:0000014	Abnormality of the bladder	5062	PAK2	ORPHA:1571
HP:0000014	Abnormality of the bladder	54496	PRMT7	ORPHA:464288
HP:0000014	Abnormality of the bladder	3192	HNRNPU	ORPHA:238769
HP:0000014	Abnormality of the bladder	23476	BRD4	ORPHA:199
HP:0000014	Abnormality of the bladder	9126	SMC3	ORPHA:199
HP:0000014	Abnormality of the bladder	8243	SMC1A	ORPHA:199
HP:0000014	Abnormality of the bladder	25836	NIPBL	ORPHA:199
HP:0000014	Abnormality of the bladder	25836	NIPBL	OMIM:122470
HP:0000014	Abnormality of the bladder	55869	HDAC8	ORPHA:199
HP:0000014	Abnormality of the bladder	5885	RAD21	ORPHA:199
HP:0000014	Abnormality of the bladder	5885	RAD21	OMIM:611376
HP:0000014	Abnormality of the bladder	4613	MYCN	ORPHA:391641
HP:0000014	Abnormality of the bladder	253738	EBF3	OMIM:617330
HP:0000014	Abnormality of the bladder	5530	PPP3CA	OMIM:618265
HP:0000014	Abnormality of the bladder	6135	RPL11	OMIM:612562
HP:0000014	Abnormality of the bladder	9091	PIGQ	OMIM:618548
HP:0000014	Abnormality of the bladder	84720	PIGO	OMIM:614749
HP:0000014	Abnormality of the bladder	8405	SPOP	OMIM:618828
HP:0000014	Abnormality of the bladder	147912	SIX5	ORPHA:107
HP:0000014	Abnormality of the bladder	7227	TRPS1	ORPHA:502
HP:0000014	Abnormality of the bladder	8204	NRIP1	OMIM:618270
HP:0000014	Abnormality of the bladder	58508	KMT2C	ORPHA:261652
HP:0000014	Abnormality of the bladder	8318	CDC45	OMIM:617063
HP:0000014	Abnormality of the bladder	253959	RALGAPA1	OMIM:618797
HP:0000014	Abnormality of the bladder	1857	DVL3	OMIM:616894
HP:0000014	Abnormality of the bladder	51339	DACT1	OMIM:617466
HP:0000014	Abnormality of the bladder	51339	DACT1	ORPHA:857
HP:0000014	Abnormality of the bladder	7148	TNXB	OMIM:615963
HP:0000014	Abnormality of the bladder	7148	TNXB	OMIM:606408
HP:0000014	Abnormality of the bladder	182	JAG1	OMIM:118450
HP:0000014	Abnormality of the bladder	2255	FGF10	ORPHA:2363
HP:0000014	Abnormality of the bladder	2316	FLNA	ORPHA:2484
HP:0000014	Abnormality of the bladder	11128	POLR3A	ORPHA:3455
HP:0000014	Abnormality of the bladder	64220	STRA6	ORPHA:2470
HP:0000014	Abnormality of the bladder	5915	RARB	ORPHA:2470
HP:0000014	Abnormality of the bladder	1028	CDKN1C	OMIM:130650
HP:0000014	Abnormality of the bladder	10984	KCNQ1OT1	OMIM:130650
HP:0000014	Abnormality of the bladder	3481	IGF2	OMIM:130650
HP:0000014	Abnormality of the bladder	3784	KCNQ1	OMIM:130650
HP:0000014	Abnormality of the bladder	546	ATRX	OMIM:309580
HP:0000014	Abnormality of the bladder	2625	GATA3	ORPHA:2237
HP:0000014	Abnormality of the bladder	6389	SDHA	ORPHA:3208
HP:0000014	Abnormality of the bladder	6390	SDHB	ORPHA:3208
HP:0000014	Abnormality of the bladder	6392	SDHD	ORPHA:3208
HP:0000014	Abnormality of the bladder	644096	SDHAF1	ORPHA:3208
HP:0000014	Abnormality of the bladder	9939	RBM8A	OMIM:274000
HP:0000014	Abnormality of the bladder	147372	CCBE1	OMIM:235510
HP:0000014	Abnormality of the bladder	9276	COPB2	ORPHA:2512
HP:0000014	Abnormality of the bladder	11113	CIT	ORPHA:2512
HP:0000014	Abnormality of the bladder	9928	KIF14	ORPHA:2512
HP:0000014	Abnormality of the bladder	22995	CEP152	ORPHA:2512
HP:0000014	Abnormality of the bladder	284403	WDR62	ORPHA:2512
HP:0000014	Abnormality of the bladder	55262	TRAPPC14	ORPHA:2512
HP:0000014	Abnormality of the bladder	163786	SASS6	ORPHA:2512
HP:0000014	Abnormality of the bladder	29920	PYCR2	ORPHA:2512
HP:0000014	Abnormality of the bladder	84879	MFSD2A	ORPHA:2512
HP:0000014	Abnormality of the bladder	4176	MCM7	ORPHA:2512
HP:0000014	Abnormality of the bladder	80254	CEP63	ORPHA:2512
HP:0000014	Abnormality of the bladder	29081	METTL5	ORPHA:2512
HP:0000014	Abnormality of the bladder	23310	NCAPD3	ORPHA:2512
HP:0000014	Abnormality of the bladder	55755	CDK5RAP2	ORPHA:2512
HP:0000014	Abnormality of the bladder	79648	MCPH1	ORPHA:2512
HP:0000014	Abnormality of the bladder	6491	STIL	ORPHA:2512
HP:0000014	Abnormality of the bladder	23141	ANKLE2	ORPHA:2512
HP:0000014	Abnormality of the bladder	259266	ASPM	ORPHA:2512
HP:0000014	Abnormality of the bladder	7109	TRAPPC10	ORPHA:2512
HP:0000014	Abnormality of the bladder	1911	PHC1	ORPHA:2512
HP:0000014	Abnormality of the bladder	6884	TAF13	ORPHA:2512
HP:0000014	Abnormality of the bladder	9662	CEP135	ORPHA:2512
HP:0000014	Abnormality of the bladder	55835	CENPJ	ORPHA:2512
HP:0000014	Abnormality of the bladder	57082	KNL1	ORPHA:2512
HP:0000014	Abnormality of the bladder	1021	CDK6	ORPHA:2512
HP:0000014	Abnormality of the bladder	8295	TRRAP	OMIM:618454
HP:0000014	Abnormality of the bladder	7319	UBE2A	ORPHA:163956
HP:0000014	Abnormality of the bladder	80000	GREB1L	OMIM:617805
HP:0000014	Abnormality of the bladder	1741	DLG3	OMIM:300850
HP:0000014	Abnormality of the bladder	54941	RNF125	OMIM:616260
HP:0000014	Abnormality of the bladder	54757	FAM20A	OMIM:204690
HP:0000014	Abnormality of the bladder	54757	FAM20A	ORPHA:1031
HP:0000014	Abnormality of the bladder	3766	KCNJ10	OMIM:612780
HP:0000014	Abnormality of the bladder	3766	KCNJ10	ORPHA:199343
HP:0000014	Abnormality of the bladder	27086	FOXP1	OMIM:613670
HP:0000014	Abnormality of the bladder	10165	SLC25A13	ORPHA:247585
HP:0000014	Abnormality of the bladder	189	AGXT	ORPHA:93598
HP:0000014	Abnormality of the bladder	1760	DMPK	ORPHA:589821
HP:0000014	Abnormality of the bladder	5442	POLRMT	OMIM:619743
HP:0000014	Abnormality of the bladder	6559	SLC12A3	OMIM:263800
HP:0000014	Abnormality of the bladder	6559	SLC12A3	ORPHA:358
HP:0000014	Abnormality of the bladder	60495	HPSE2	OMIM:236730
HP:0000014	Abnormality of the bladder	27031	NPHP3	OMIM:604387
HP:0000014	Abnormality of the bladder	1801	DPH1	ORPHA:459061
HP:0000014	Abnormality of the bladder	51085	MLXIPL	OMIM:194050
HP:0000014	Abnormality of the bladder	2006	ELN	OMIM:194050
HP:0000014	Abnormality of the bladder	1188	CLCNKB	ORPHA:358
HP:0000014	Abnormality of the bladder	8195	MKKS	OMIM:236700
HP:0000014	Abnormality of the bladder	5447	POR	OMIM:201750
HP:0000014	Abnormality of the bladder	7355	SLC35A2	OMIM:300896
HP:0000014	Abnormality of the bladder	3845	KRAS	OMIM:600268
HP:0000014	Abnormality of the bladder	51733	UPB1	OMIM:613161
HP:0000014	Abnormality of the bladder	1009	CDH11	ORPHA:1299
HP:0000014	Abnormality of the bladder	5053	PAH	ORPHA:2209
HP:0000014	Abnormality of the bladder	3670	ISL1	ORPHA:93930
HP:0000014	Abnormality of the bladder	51741	WWOX	ORPHA:284282
HP:0000014	Abnormality of the bladder	23533	PIK3R5	ORPHA:64753
HP:0000014	Abnormality of the bladder	23064	SETX	ORPHA:64753
HP:0000014	Abnormality of the bladder	1201	CLN3	ORPHA:228346
HP:0000014	Abnormality of the bladder	4312	MMP1	ORPHA:79408
HP:0000014	Abnormality of the bladder	1294	COL7A1	ORPHA:79408
HP:0000014	Abnormality of the bladder	51308	REEP2	ORPHA:401849
HP:0000014	Abnormality of the bladder	51308	REEP2	OMIM:615625
HP:0000014	Abnormality of the bladder	2670	GFAP	ORPHA:363722
HP:0000014	Abnormality of the bladder	547	KIF1A	OMIM:610357
HP:0000014	Abnormality of the bladder	2395	FXN	ORPHA:95
HP:0000014	Abnormality of the bladder	6310	ATXN1	OMIM:164400
HP:0000014	Abnormality of the bladder	5376	PMP22	ORPHA:3115
HP:0000014	Abnormality of the bladder	4359	MPZ	ORPHA:3115
HP:0000014	Abnormality of the bladder	3178	HNRNPA1	ORPHA:52430
HP:0000014	Abnormality of the bladder	3181	HNRNPA2B1	ORPHA:52430
HP:0000014	Abnormality of the bladder	55157	DARS2	ORPHA:137898
HP:0000014	Abnormality of the bladder	23317	DNAJC13	ORPHA:411602
HP:0000014	Abnormality of the bladder	1981	EIF4G1	ORPHA:411602
HP:0000014	Abnormality of the bladder	55737	VPS35	ORPHA:411602
HP:0000014	Abnormality of the bladder	120892	LRRK2	ORPHA:411602
HP:0000014	Abnormality of the bladder	26058	GIGYF2	ORPHA:411602
HP:0000014	Abnormality of the bladder	51360	MBTPS2	ORPHA:85284
HP:0000014	Abnormality of the bladder	23426	GRIP1	OMIM:617667
HP:0000014	Abnormality of the bladder	9968	MED12	OMIM:301068
HP:0000014	Abnormality of the bladder	92002	CCNQ	OMIM:300707
HP:0000014	Abnormality of the bladder	79796	ALG9	ORPHA:79328
HP:0000014	Abnormality of the bladder	54361	WNT4	ORPHA:139466
HP:0000014	Abnormality of the bladder	54361	WNT4	OMIM:611812
HP:0000014	Abnormality of the bladder	54903	MKS1	OMIM:249000
HP:0000014	Abnormality of the bladder	23556	PIGN	ORPHA:280633
HP:0000014	Abnormality of the bladder	3909	LAMA3	ORPHA:79404
HP:0000014	Abnormality of the bladder	3918	LAMC2	ORPHA:79404
HP:0000014	Abnormality of the bladder	3914	LAMB3	ORPHA:79404
HP:0000014	Abnormality of the bladder	3655	ITGA6	ORPHA:79403
HP:0000014	Abnormality of the bladder	3691	ITGB4	ORPHA:79403
HP:0000014	Abnormality of the bladder	3691	ITGB4	ORPHA:158684
HP:0000014	Abnormality of the bladder	341640	FREM2	OMIM:617666
HP:0000014	Abnormality of the bladder	5339	PLEC	ORPHA:158684
HP:0000014	Abnormality of the bladder	57545	CC2D2A	OMIM:612284
HP:0000014	Abnormality of the bladder	745	MYRF	OMIM:618280
HP:0000014	Abnormality of the bladder	4714	NDUFB8	OMIM:618252
HP:0000014	Abnormality of the bladder	554	AVPR2	ORPHA:223
HP:0000014	Abnormality of the bladder	359	AQP2	ORPHA:223
HP:0000014	Abnormality of the bladder	23394	ADNP	OMIM:615873
HP:0000014	Abnormality of the bladder	5575	PRKAR1B	OMIM:619680
HP:0000014	Abnormality of the bladder	649	BMP1	OMIM:614856
HP:0000014	Abnormality of the bladder	54796	BNC2	ORPHA:93110
HP:0000014	Abnormality of the bladder	165918	RNF168	ORPHA:420741
HP:0000014	Abnormality of the bladder	6524	SLC5A2	OMIM:233100
HP:0000014	Abnormality of the bladder	339855	KY	OMIM:617114
HP:0000014	Abnormality of the bladder	2294	FOXF1	OMIM:265380
HP:0000014	Abnormality of the bladder	4638	MYLK	OMIM:249210
HP:0000014	Abnormality of the bladder	4629	MYH11	OMIM:619351
HP:0000014	Abnormality of the bladder	25802	LMOD1	OMIM:619362
HP:0000014	Abnormality of the bladder	93649	MYOCD	OMIM:618719
HP:0000014	Abnormality of the bladder	5880	RAC2	OMIM:608203
HP:0000014	Abnormality of the bladder	8425	LTBP4	OMIM:613177
HP:0000014	Abnormality of the bladder	4052	LTBP1	ORPHA:90349
HP:0000014	Abnormality of the bladder	30008	EFEMP2	ORPHA:90349
HP:0000014	Abnormality of the bladder	10516	FBLN5	ORPHA:90349
HP:0000014	Abnormality of the bladder	6595	SMARCA2	ORPHA:2728
HP:0000014	Abnormality of the bladder	6794	STK11	OMIM:175200
HP:0000014	Abnormality of the bladder	55898	UNC45A	OMIM:619377
HP:0000014	Abnormality of the bladder	64321	SOX17	OMIM:613674
HP:0000014	Abnormality of the bladder	7750	ZMYM2	OMIM:619522
HP:0000014	Abnormality of the bladder	8291	DYSF	ORPHA:268
HP:0000014	Abnormality of the bladder	4683	NBN	ORPHA:647
HP:0000014	Abnormality of the bladder	112817	HOGA1	ORPHA:93600
HP:0000014	Abnormality of the bladder	3106	HLA-B	ORPHA:36426
HP:0000014	Abnormality of the bladder	10320	IKZF1	ORPHA:36426
HP:0000014	Abnormality of the bladder	83550	GPR101	ORPHA:963
HP:0000014	Abnormality of the bladder	9049	AIP	ORPHA:963
HP:0000014	Abnormality of the bladder	146206	CARMIL2	OMIM:618131
HP:0000014	Abnormality of the bladder	3251	HPRT1	ORPHA:79233
HP:0000014	Abnormality of the bladder	92579	G6PC3	OMIM:612541
HP:0000014	Abnormality of the bladder	1281	COL3A1	OMIM:130050
HP:0000014	Abnormality of the bladder	1281	COL3A1	ORPHA:286
HP:0000014	Abnormality of the bladder	4088	SMAD3	OMIM:613795
HP:0000015	Bladder diverticulum	1277	COL1A1	ORPHA:287
HP:0000015	Bladder diverticulum	1289	COL5A1	ORPHA:287
HP:0000015	Bladder diverticulum	1290	COL5A2	ORPHA:287
HP:0000015	Bladder diverticulum	538	ATP7A	ORPHA:565
HP:0000015	Bladder diverticulum	538	ATP7A	ORPHA:198
HP:0000015	Bladder diverticulum	538	ATP7A	OMIM:304150
HP:0000015	Bladder diverticulum	1281	COL3A1	ORPHA:286
HP:0000015	Bladder diverticulum	5351	PLOD1	OMIM:225400
HP:0000015	Bladder diverticulum	1278	COL1A2	OMIM:617821
HP:0000015	Bladder diverticulum	2006	ELN	ORPHA:90348
HP:0000015	Bladder diverticulum	2006	ELN	ORPHA:904
HP:0000015	Bladder diverticulum	2006	ELN	OMIM:194050
HP:0000015	Bladder diverticulum	5832	ALDH18A1	ORPHA:90348
HP:0000015	Bladder diverticulum	57167	SALL4	ORPHA:959
HP:0000015	Bladder diverticulum	6804	STX1A	ORPHA:904
HP:0000015	Bladder diverticulum	7461	CLIP2	ORPHA:904
HP:0000015	Bladder diverticulum	84277	DNAJC30	ORPHA:904
HP:0000015	Bladder diverticulum	8468	FKBP6	ORPHA:904
HP:0000015	Bladder diverticulum	5982	RFC2	ORPHA:904
HP:0000015	Bladder diverticulum	2969	GTF2I	ORPHA:904
HP:0000015	Bladder diverticulum	3984	LIMK1	ORPHA:904
HP:0000015	Bladder diverticulum	9569	GTF2IRD1	ORPHA:904
HP:0000015	Bladder diverticulum	155382	VPS37D	ORPHA:904
HP:0000015	Bladder diverticulum	155368	METTL27	ORPHA:904
HP:0000015	Bladder diverticulum	114049	BUD23	ORPHA:904
HP:0000015	Bladder diverticulum	7458	EIF4H	ORPHA:904
HP:0000015	Bladder diverticulum	84163	GTF2IRD2	ORPHA:904
HP:0000015	Bladder diverticulum	9275	BCL7B	ORPHA:904
HP:0000015	Bladder diverticulum	26608	TBL2	ORPHA:904
HP:0000015	Bladder diverticulum	653361	NCF1	ORPHA:904
HP:0000015	Bladder diverticulum	135886	TMEM270	ORPHA:904
HP:0000015	Bladder diverticulum	51085	MLXIPL	ORPHA:904
HP:0000015	Bladder diverticulum	51085	MLXIPL	OMIM:194050
HP:0000015	Bladder diverticulum	9031	BAZ1B	ORPHA:904
HP:0000015	Bladder diverticulum	55033	FKBP14	OMIM:614557
HP:0000015	Bladder diverticulum	8626	TP63	OMIM:604292
HP:0000015	Bladder diverticulum	8425	LTBP4	OMIM:613177
HP:0000015	Bladder diverticulum	4052	LTBP1	ORPHA:90349
HP:0000015	Bladder diverticulum	30008	EFEMP2	ORPHA:90349
HP:0000015	Bladder diverticulum	10516	FBLN5	ORPHA:90349
HP:0000015	Bladder diverticulum	6595	SMARCA2	ORPHA:2728
HP:0000016	Urinary retention	7840	ALMS1	ORPHA:64
HP:0000016	Urinary retention	72	ACTG2	OMIM:155310
HP:0000016	Urinary retention	5832	ALDH18A1	OMIM:616586
HP:0000016	Urinary retention	5832	ALDH18A1	ORPHA:447760
HP:0000016	Urinary retention	215	ABCD1	ORPHA:139399
HP:0000016	Urinary retention	816	CAMK2B	OMIM:617799
HP:0000016	Urinary retention	1161	ERCC8	ORPHA:90324
HP:0000016	Urinary retention	2074	ERCC6	ORPHA:90324
HP:0000016	Urinary retention	5921	RASA1	ORPHA:90307
HP:0000016	Urinary retention	54796	BNC2	ORPHA:93110
HP:0000016	Urinary retention	100134444	KCNJ18	ORPHA:79102
HP:0000016	Urinary retention	2556	GABRA3	ORPHA:79102
HP:0000016	Urinary retention	779	CACNA1S	ORPHA:79102
HP:0000016	Urinary retention	3431	SP110	ORPHA:79124
HP:0000016	Urinary retention	7040	TGFB1	ORPHA:1328
HP:0000016	Urinary retention	5621	PRNP	OMIM:600072
HP:0000016	Urinary retention	2131	EXT1	ORPHA:321
HP:0000016	Urinary retention	2132	EXT2	ORPHA:321
HP:0000016	Urinary retention	3909	LAMA3	ORPHA:79404
HP:0000016	Urinary retention	3918	LAMC2	ORPHA:79404
HP:0000016	Urinary retention	3914	LAMB3	ORPHA:79404
HP:0000016	Urinary retention	81839	VANGL1	OMIM:600145
HP:0000016	Urinary retention	171023	ASXL1	ORPHA:97297
HP:0000016	Urinary retention	4665	NAB2	ORPHA:2126
HP:0000016	Urinary retention	6778	STAT6	ORPHA:2126
HP:0000016	Urinary retention	3145	HMBS	OMIM:176000
HP:0000016	Urinary retention	3145	HMBS	ORPHA:79276
HP:0000016	Urinary retention	4001	LMNB1	ORPHA:99027
HP:0000016	Urinary retention	353	APRT	ORPHA:976
HP:0000017	Nocturia	291	SLC25A4	ORPHA:254892
HP:0000017	Nocturia	5428	POLG	ORPHA:254892
HP:0000017	Nocturia	56652	TWNK	ORPHA:254892
HP:0000017	Nocturia	11232	POLG2	ORPHA:254892
HP:0000017	Nocturia	50484	RRM2B	ORPHA:254892
HP:0000017	Nocturia	6559	SLC12A3	OMIM:263800
HP:0000017	Nocturia	6559	SLC12A3	ORPHA:358
HP:0000017	Nocturia	8398	PLA2G6	OMIM:612953
HP:0000017	Nocturia	1621	DBH	ORPHA:230
HP:0000017	Nocturia	1621	DBH	OMIM:223360
HP:0000017	Nocturia	1188	CLCNKB	ORPHA:358
HP:0000019	Urinary hesitancy	3119	HLA-DQB1	OMIM:126200
HP:0000019	Urinary hesitancy	5133	PDCD1	OMIM:126200
HP:0000019	Urinary hesitancy	3123	HLA-DRB1	OMIM:126200
HP:0000019	Urinary hesitancy	353	APRT	ORPHA:976
HP:0030667	Peripheral retinal neovascularization	726	CAPN5	OMIM:193235
HP:0030666	Retinal neovascularization	8322	FZD4	OMIM:133780
HP:0030666	Retinal neovascularization	8322	FZD4	ORPHA:891
HP:0030666	Retinal neovascularization	4041	LRP5	OMIM:133780
HP:0030666	Retinal neovascularization	4041	LRP5	ORPHA:891
HP:0030666	Retinal neovascularization	2615	LRRC32	OMIM:619074
HP:0030666	Retinal neovascularization	7439	BEST1	OMIM:193220
HP:0030666	Retinal neovascularization	4693	NDP	ORPHA:891
HP:0030666	Retinal neovascularization	4693	NDP	OMIM:305390
HP:0030666	Retinal neovascularization	1499	CTNNB1	ORPHA:891
HP:0030666	Retinal neovascularization	23554	TSPAN12	ORPHA:891
HP:0030666	Retinal neovascularization	79797	ZNF408	ORPHA:891
HP:0030666	Retinal neovascularization	11277	TREX1	ORPHA:247691
HP:0030666	Retinal neovascularization	726	CAPN5	OMIM:193235
HP:0030664	Beevor's sign	2483	FRG1	OMIM:158900
HP:0030664	Beevor's sign	23347	SMCHD1	OMIM:158901
HP:0030664	Beevor's sign	4625	MYH7	ORPHA:437572
HP:0030669	Abnormal ocular adnexa morphology	1718	DHCR24	OMIM:602398
HP:0030669	Abnormal ocular adnexa morphology	1718	DHCR24	ORPHA:35107
HP:0030669	Abnormal ocular adnexa morphology	26235	FBXL4	OMIM:615471
HP:0030669	Abnormal ocular adnexa morphology	1139	CHRNA7	ORPHA:199318
HP:0030669	Abnormal ocular adnexa morphology	23019	CNOT1	OMIM:618500
HP:0030669	Abnormal ocular adnexa morphology	8216	LZTR1	OMIM:616564
HP:0030669	Abnormal ocular adnexa morphology	8216	LZTR1	OMIM:605275
HP:0030669	Abnormal ocular adnexa morphology	5728	PTEN	OMIM:605309
HP:0030669	Abnormal ocular adnexa morphology	6659	SOX4	OMIM:618506
HP:0030669	Abnormal ocular adnexa morphology	6016	RIT1	OMIM:615355
HP:0030669	Abnormal ocular adnexa morphology	4204	MECP2	ORPHA:1762
HP:0030669	Abnormal ocular adnexa morphology	4204	MECP2	OMIM:300260
HP:0030669	Abnormal ocular adnexa morphology	51126	NAA20	OMIM:619717
HP:0030669	Abnormal ocular adnexa morphology	7360	UGP2	OMIM:618744
HP:0030669	Abnormal ocular adnexa morphology	81857	MED25	OMIM:616449
HP:0030669	Abnormal ocular adnexa morphology	81857	MED25	ORPHA:464738
HP:0030669	Abnormal ocular adnexa morphology	84942	WDR73	OMIM:251300
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	OMIM:214110
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	OMIM:202370
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	51	ACOX1	ORPHA:2971
HP:0030669	Abnormal ocular adnexa morphology	79848	CSPP1	ORPHA:397715
HP:0030669	Abnormal ocular adnexa morphology	9786	KIAA0586	ORPHA:397715
HP:0030669	Abnormal ocular adnexa morphology	3020	H3-3A	OMIM:619720
HP:0030669	Abnormal ocular adnexa morphology	51741	WWOX	OMIM:616211
HP:0030669	Abnormal ocular adnexa morphology	283489	CHAMP1	OMIM:616579
HP:0030669	Abnormal ocular adnexa morphology	51111	KMT5B	OMIM:617788
HP:0030669	Abnormal ocular adnexa morphology	2624	GATA2	OMIM:614038
HP:0030669	Abnormal ocular adnexa morphology	79639	TMEM53	OMIM:619727
HP:0030669	Abnormal ocular adnexa morphology	129563	DIS3L2	ORPHA:2849
HP:0030669	Abnormal ocular adnexa morphology	79158	GNPTAB	OMIM:252500
HP:0030669	Abnormal ocular adnexa morphology	79158	GNPTAB	ORPHA:576
HP:0030669	Abnormal ocular adnexa morphology	57728	WDR19	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	57728	WDR19	OMIM:614378
HP:0030669	Abnormal ocular adnexa morphology	6023	RMRP	ORPHA:175
HP:0030669	Abnormal ocular adnexa morphology	57589	RIC1	OMIM:618761
HP:0030669	Abnormal ocular adnexa morphology	9692	PRORP	OMIM:619737
HP:0030669	Abnormal ocular adnexa morphology	815	CAMK2A	OMIM:617798
HP:0030669	Abnormal ocular adnexa morphology	23545	ATP6V0A2	ORPHA:2834
HP:0030669	Abnormal ocular adnexa morphology	23545	ATP6V0A2	OMIM:278250
HP:0030669	Abnormal ocular adnexa morphology	10381	TUBB3	ORPHA:300570
HP:0030669	Abnormal ocular adnexa morphology	9326	ZNHIT3	ORPHA:2836
HP:0030669	Abnormal ocular adnexa morphology	9326	ZNHIT3	OMIM:260565
HP:0030669	Abnormal ocular adnexa morphology	547	KIF1A	ORPHA:2836
HP:0030669	Abnormal ocular adnexa morphology	2626	GATA4	ORPHA:251071
HP:0030669	Abnormal ocular adnexa morphology	1277	COL1A1	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	1277	COL1A1	ORPHA:1899
HP:0030669	Abnormal ocular adnexa morphology	1289	COL5A1	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	1289	COL5A1	OMIM:130000
HP:0030669	Abnormal ocular adnexa morphology	1290	COL5A2	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	1290	COL5A2	OMIM:130010
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	OMIM:218600
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	OMIM:268400
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	ORPHA:1225
HP:0030669	Abnormal ocular adnexa morphology	10087	CERT1	OMIM:616351
HP:0030669	Abnormal ocular adnexa morphology	8726	EED	OMIM:617561
HP:0030669	Abnormal ocular adnexa morphology	10815	CPLX1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	10815	CPLX1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	54872	PIGG	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	7469	NELFA	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	1487	CTBP1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	1487	CTBP1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	3954	LETM1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	3954	LETM1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	ORPHA:363700
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	OMIM:193520
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	OMIM:601321
HP:0030669	Abnormal ocular adnexa morphology	22884	WDR37	OMIM:618652
HP:0030669	Abnormal ocular adnexa morphology	1656	DDX6	OMIM:618653
HP:0030669	Abnormal ocular adnexa morphology	1501	CTNND2	ORPHA:281
HP:0030669	Abnormal ocular adnexa morphology	9037	SEMA5A	ORPHA:281
HP:0030669	Abnormal ocular adnexa morphology	5442	POLRMT	OMIM:619743
HP:0030669	Abnormal ocular adnexa morphology	80776	B9D2	OMIM:614175
HP:0030669	Abnormal ocular adnexa morphology	57178	ZMIZ1	OMIM:618659
HP:0030669	Abnormal ocular adnexa morphology	5500	PPP1CB	ORPHA:2701
HP:0030669	Abnormal ocular adnexa morphology	5500	PPP1CB	OMIM:617506
HP:0030669	Abnormal ocular adnexa morphology	3340	NDST1	OMIM:616116
HP:0030669	Abnormal ocular adnexa morphology	55012	PPP2R3C	OMIM:618419
HP:0030669	Abnormal ocular adnexa morphology	93627	TBCK	ORPHA:488632
HP:0030669	Abnormal ocular adnexa morphology	93627	TBCK	OMIM:616900
HP:0030669	Abnormal ocular adnexa morphology	200734	SPRED2	OMIM:619745
HP:0030669	Abnormal ocular adnexa morphology	55623	THUMPD1	OMIM:619989
HP:0030669	Abnormal ocular adnexa morphology	54345	SOX18	OMIM:137940
HP:0030669	Abnormal ocular adnexa morphology	1789	DNMT3B	OMIM:242860
HP:0030669	Abnormal ocular adnexa morphology	1789	DNMT3B	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	1186	CLCN7	OMIM:618541
HP:0030669	Abnormal ocular adnexa morphology	23312	DMXL2	OMIM:618663
HP:0030669	Abnormal ocular adnexa morphology	26038	CHD5	OMIM:619873
HP:0030669	Abnormal ocular adnexa morphology	1182	CLCN3	OMIM:619512
HP:0030669	Abnormal ocular adnexa morphology	23461	ABCA5	OMIM:135400
HP:0030669	Abnormal ocular adnexa morphology	54914	FOCAD	OMIM:619991
HP:0030669	Abnormal ocular adnexa morphology	9841	ZBTB24	OMIM:614069
HP:0030669	Abnormal ocular adnexa morphology	9841	ZBTB24	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	3098	HK1	OMIM:618547
HP:0030669	Abnormal ocular adnexa morphology	5979	RET	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	8516	ITGA8	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	26281	FGF20	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	2674	GFRA1	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	7484	WNT9B	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	80000	GREB1L	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	5590	PRKCZ	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	2563	GABRD	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	8510	MMP23B	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	7798	LUZP1	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	10630	PDPN	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	3339	HSPG2	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	10277	UBE4B	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	8514	KCNAB2	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	473	RERE	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	473	RERE	ORPHA:494344
HP:0030669	Abnormal ocular adnexa morphology	473	RERE	OMIM:616975
HP:0030669	Abnormal ocular adnexa morphology	63976	PRDM16	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	54897	CASZ1	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	6134	RPL10	ORPHA:459070
HP:0030669	Abnormal ocular adnexa morphology	6134	RPL10	OMIM:300998
HP:0030669	Abnormal ocular adnexa morphology	286	ANK1	ORPHA:251066
HP:0030669	Abnormal ocular adnexa morphology	85365	ALG2	ORPHA:79326
HP:0030669	Abnormal ocular adnexa morphology	85365	ALG2	OMIM:607906
HP:0030669	Abnormal ocular adnexa morphology	26137	ZBTB20	OMIM:259050
HP:0030669	Abnormal ocular adnexa morphology	54828	BCAS3	OMIM:619641
HP:0030669	Abnormal ocular adnexa morphology	56098	PCDHGC4	OMIM:619880
HP:0030669	Abnormal ocular adnexa morphology	53335	BCL11A	OMIM:617101
HP:0030669	Abnormal ocular adnexa morphology	59336	PRDM13	OMIM:619761
HP:0030669	Abnormal ocular adnexa morphology	59336	PRDM13	OMIM:619909
HP:0030669	Abnormal ocular adnexa morphology	6942	TCF20	OMIM:618430
HP:0030669	Abnormal ocular adnexa morphology	9968	MED12	OMIM:305450
HP:0030669	Abnormal ocular adnexa morphology	9968	MED12	OMIM:300895
HP:0030669	Abnormal ocular adnexa morphology	2324	FLT4	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	57165	GJC2	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	5373	PMM2	ORPHA:79318
HP:0030669	Abnormal ocular adnexa morphology	57724	EPG5	OMIM:242840
HP:0030669	Abnormal ocular adnexa morphology	23556	PIGN	OMIM:614080
HP:0030669	Abnormal ocular adnexa morphology	23556	PIGN	ORPHA:280633
HP:0030669	Abnormal ocular adnexa morphology	7030	TFE3	OMIM:301066
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	ORPHA:373
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	OMIM:312870
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	ORPHA:2662
HP:0030669	Abnormal ocular adnexa morphology	2719	GPC3	ORPHA:373
HP:0030669	Abnormal ocular adnexa morphology	2719	GPC3	OMIM:312870
HP:0030669	Abnormal ocular adnexa morphology	5286	PIK3C2A	OMIM:618440
HP:0030669	Abnormal ocular adnexa morphology	5286	PIK3C2A	ORPHA:557003
HP:0030669	Abnormal ocular adnexa morphology	8565	YARS1	OMIM:619418
HP:0030669	Abnormal ocular adnexa morphology	84168	ANTXR1	OMIM:230740
HP:0030669	Abnormal ocular adnexa morphology	23499	MACF1	OMIM:618325
HP:0030669	Abnormal ocular adnexa morphology	1107	CHD3	OMIM:618205
HP:0030669	Abnormal ocular adnexa morphology	374969	SVBP	OMIM:618569
HP:0030669	Abnormal ocular adnexa morphology	6261	RYR1	ORPHA:324581
HP:0030669	Abnormal ocular adnexa morphology	7476	WNT7A	OMIM:276820
HP:0030669	Abnormal ocular adnexa morphology	79087	ALG12	ORPHA:79324
HP:0030669	Abnormal ocular adnexa morphology	79087	ALG12	OMIM:607143
HP:0030669	Abnormal ocular adnexa morphology	9896	FIG4	OMIM:216340
HP:0030669	Abnormal ocular adnexa morphology	10195	ALG3	OMIM:601110
HP:0030669	Abnormal ocular adnexa morphology	257	ALX3	OMIM:136760
HP:0030669	Abnormal ocular adnexa morphology	257	ALX3	ORPHA:391474
HP:0030669	Abnormal ocular adnexa morphology	6135	RPL11	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6138	RPL15	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6229	RPS24	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6125	RPL5	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6204	RPS10	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6224	RPS20	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6165	RPL35A	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6223	RPS19	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6223	RPS19	OMIM:105650
HP:0030669	Abnormal ocular adnexa morphology	6232	RPS27	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6231	RPS26	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	11224	RPL35	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6160	RPL31	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6218	RPS17	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6201	RPS7	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6155	RPL27	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6210	RPS15A	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	90121	TSR2	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6141	RPL18	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6235	RPS29	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6234	RPS28	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6234	RPS28	OMIM:606164
HP:0030669	Abnormal ocular adnexa morphology	51816	ADA2	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	1917	EEF1A2	OMIM:616393
HP:0030669	Abnormal ocular adnexa morphology	9742	IFT140	OMIM:266920
HP:0030669	Abnormal ocular adnexa morphology	26173	INTS1	OMIM:618571
HP:0030669	Abnormal ocular adnexa morphology	51117	COQ4	OMIM:616276
HP:0030669	Abnormal ocular adnexa morphology	164	AP1G1	OMIM:619548
HP:0030669	Abnormal ocular adnexa morphology	6857	SYT1	OMIM:618218
HP:0030669	Abnormal ocular adnexa morphology	6857	SYT1	ORPHA:522077
HP:0030669	Abnormal ocular adnexa morphology	6654	SOS1	OMIM:610733
HP:0030669	Abnormal ocular adnexa morphology	1801	DPH1	ORPHA:459061
HP:0030669	Abnormal ocular adnexa morphology	1801	DPH1	OMIM:616901
HP:0030669	Abnormal ocular adnexa morphology	389827	MYMK	OMIM:254940
HP:0030669	Abnormal ocular adnexa morphology	389827	MYMK	ORPHA:1358
HP:0030669	Abnormal ocular adnexa morphology	84706	GPT2	OMIM:616281
HP:0030669	Abnormal ocular adnexa morphology	5898	RALA	OMIM:619311
HP:0030669	Abnormal ocular adnexa morphology	6909	TBX2	OMIM:618223
HP:0030669	Abnormal ocular adnexa morphology	5351	PLOD1	OMIM:225400
HP:0030669	Abnormal ocular adnexa morphology	6477	SIAH1	OMIM:619314
HP:0030669	Abnormal ocular adnexa morphology	54517	PUS7	OMIM:618342
HP:0030669	Abnormal ocular adnexa morphology	57102	C12orf4	OMIM:618221
HP:0030669	Abnormal ocular adnexa morphology	8573	CASK	OMIM:300749
HP:0030669	Abnormal ocular adnexa morphology	10785	WDR4	OMIM:618347
HP:0030669	Abnormal ocular adnexa morphology	55628	ZNF407	OMIM:619557
HP:0030669	Abnormal ocular adnexa morphology	56623	INPP5E	OMIM:213300
HP:0030669	Abnormal ocular adnexa morphology	50814	NSDHL	ORPHA:251383
HP:0030669	Abnormal ocular adnexa morphology	50814	NSDHL	OMIM:300831
HP:0030669	Abnormal ocular adnexa morphology	5515	PPP2CA	OMIM:618354
HP:0030669	Abnormal ocular adnexa morphology	26275	HIBCH	ORPHA:88639
HP:0030669	Abnormal ocular adnexa morphology	26275	HIBCH	OMIM:250620
HP:0030669	Abnormal ocular adnexa morphology	650	BMP2	ORPHA:261295
HP:0030669	Abnormal ocular adnexa morphology	5980	REV3L	ORPHA:570
HP:0030669	Abnormal ocular adnexa morphology	23129	PLXND1	ORPHA:570
HP:0030669	Abnormal ocular adnexa morphology	3039	HBA1	ORPHA:98791
HP:0030669	Abnormal ocular adnexa morphology	3040	HBA2	ORPHA:98791
HP:0030669	Abnormal ocular adnexa morphology	2334	AFF2	OMIM:309548
HP:0030669	Abnormal ocular adnexa morphology	2334	AFF2	ORPHA:100973
HP:0030669	Abnormal ocular adnexa morphology	4141	MARS1	OMIM:619692
HP:0030669	Abnormal ocular adnexa morphology	4125	MAN2B1	OMIM:248500
HP:0030669	Abnormal ocular adnexa morphology	10082	GPC6	OMIM:258315
HP:0030669	Abnormal ocular adnexa morphology	9719	ADAMTSL2	ORPHA:1901
HP:0030669	Abnormal ocular adnexa morphology	23389	MED13L	ORPHA:369891
HP:0030669	Abnormal ocular adnexa morphology	23111	SPART	ORPHA:101000
HP:0030669	Abnormal ocular adnexa morphology	1822	ATN1	OMIM:618494
HP:0030669	Abnormal ocular adnexa morphology	5573	PRKAR1A	OMIM:101800
HP:0030669	Abnormal ocular adnexa morphology	5573	PRKAR1A	ORPHA:950
HP:0030669	Abnormal ocular adnexa morphology	9851	KIAA0753	OMIM:619476
HP:0030669	Abnormal ocular adnexa morphology	9851	KIAA0753	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	2290	FOXG1	ORPHA:261144
HP:0030669	Abnormal ocular adnexa morphology	65250	CPLANE1	OMIM:277170
HP:0030669	Abnormal ocular adnexa morphology	65250	CPLANE1	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	134218	DNAJC21	OMIM:617052
HP:0030669	Abnormal ocular adnexa morphology	5977	DPF2	OMIM:618027
HP:0030669	Abnormal ocular adnexa morphology	79005	SCNM1	OMIM:620107
HP:0030669	Abnormal ocular adnexa morphology	57465	TBC1D24	ORPHA:79500
HP:0030669	Abnormal ocular adnexa morphology	57465	TBC1D24	OMIM:220500
HP:0030669	Abnormal ocular adnexa morphology	2132	EXT2	ORPHA:52022
HP:0030669	Abnormal ocular adnexa morphology	51317	PHF21A	ORPHA:52022
HP:0030669	Abnormal ocular adnexa morphology	11198	SUPT16H	OMIM:619480
HP:0030669	Abnormal ocular adnexa morphology	1457	CSNK2A1	OMIM:617062
HP:0030669	Abnormal ocular adnexa morphology	7204	TRIO	OMIM:617061
HP:0030669	Abnormal ocular adnexa morphology	7204	TRIO	ORPHA:476126
HP:0030669	Abnormal ocular adnexa morphology	5290	PIK3CA	OMIM:602501
HP:0030669	Abnormal ocular adnexa morphology	2222	FDFT1	OMIM:618156
HP:0030669	Abnormal ocular adnexa morphology	57477	SHROOM4	ORPHA:85288
HP:0030669	Abnormal ocular adnexa morphology	10220	GDF11	OMIM:619122
HP:0030669	Abnormal ocular adnexa morphology	226	ALDOA	OMIM:611881
HP:0030669	Abnormal ocular adnexa morphology	8450	CUL4B	ORPHA:85293
HP:0030669	Abnormal ocular adnexa morphology	93587	TRMT10A	ORPHA:391408
HP:0030669	Abnormal ocular adnexa morphology	84919	PPP1R15B	ORPHA:391408
HP:0030669	Abnormal ocular adnexa morphology	84919	PPP1R15B	OMIM:616817
HP:0030669	Abnormal ocular adnexa morphology	3090	HIC1	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	5048	PAFAH1B1	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	7531	YWHAE	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	80267	EDEM3	OMIM:619493
HP:0030669	Abnormal ocular adnexa morphology	23154	NCDN	OMIM:619373
HP:0030669	Abnormal ocular adnexa morphology	84231	TRAF7	OMIM:618164
HP:0030669	Abnormal ocular adnexa morphology	89970	RSPRY1	ORPHA:457395
HP:0030669	Abnormal ocular adnexa morphology	89970	RSPRY1	OMIM:616723
HP:0030669	Abnormal ocular adnexa morphology	51594	NBAS	OMIM:614800
HP:0030669	Abnormal ocular adnexa morphology	54187	NANS	OMIM:610442
HP:0030669	Abnormal ocular adnexa morphology	3295	HSD17B4	OMIM:261515
HP:0030669	Abnormal ocular adnexa morphology	10020	GNE	ORPHA:3166
HP:0030669	Abnormal ocular adnexa morphology	10020	GNE	OMIM:269921
HP:0030669	Abnormal ocular adnexa morphology	10079	ATP9A	OMIM:620242
HP:0030669	Abnormal ocular adnexa morphology	1795	DOCK3	OMIM:618292
HP:0030669	Abnormal ocular adnexa morphology	114034	TOE1	ORPHA:284339
HP:0030669	Abnormal ocular adnexa morphology	114034	TOE1	OMIM:614969
HP:0030669	Abnormal ocular adnexa morphology	9562	MINPP1	ORPHA:284339
HP:0030669	Abnormal ocular adnexa morphology	51626	DYNC2LI1	OMIM:617088
HP:0030669	Abnormal ocular adnexa morphology	27161	AGO2	OMIM:619149
HP:0030669	Abnormal ocular adnexa morphology	4921	DDR2	OMIM:618175
HP:0030669	Abnormal ocular adnexa morphology	221927	BRAT1	OMIM:618056
HP:0030669	Abnormal ocular adnexa morphology	168667	BMPER	OMIM:608022
HP:0030669	Abnormal ocular adnexa morphology	7337	UBE3A	ORPHA:238446
HP:0030669	Abnormal ocular adnexa morphology	6309	SC5D	ORPHA:46059
HP:0030669	Abnormal ocular adnexa morphology	6309	SC5D	OMIM:607330
HP:0030669	Abnormal ocular adnexa morphology	8506	CNTNAP1	OMIM:618186
HP:0030669	Abnormal ocular adnexa morphology	5393	EXOSC9	OMIM:618065
HP:0030669	Abnormal ocular adnexa morphology	161742	SPRED1	OMIM:611431
HP:0030669	Abnormal ocular adnexa morphology	5894	RAF1	OMIM:611554
HP:0030669	Abnormal ocular adnexa morphology	5894	RAF1	OMIM:611553
HP:0030669	Abnormal ocular adnexa morphology	55112	DYNC2I1	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	57560	IFT80	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	79659	DYNC2H1	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	89891	DYNC2I2	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	374654	KIF7	OMIM:200990
HP:0030669	Abnormal ocular adnexa morphology	374654	KIF7	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	55788	LMBRD1	OMIM:277380
HP:0030669	Abnormal ocular adnexa morphology	1717	DHCR7	ORPHA:818
HP:0030669	Abnormal ocular adnexa morphology	1717	DHCR7	OMIM:270400
HP:0030669	Abnormal ocular adnexa morphology	25782	RAB3GAP2	OMIM:212720
HP:0030669	Abnormal ocular adnexa morphology	10225	CD96	OMIM:211750
HP:0030669	Abnormal ocular adnexa morphology	10225	CD96	ORPHA:1308
HP:0030669	Abnormal ocular adnexa morphology	1301	COL11A1	OMIM:154780
HP:0030669	Abnormal ocular adnexa morphology	28958	COA3	OMIM:619058
HP:0030669	Abnormal ocular adnexa morphology	9739	SETD1A	OMIM:619056
HP:0030669	Abnormal ocular adnexa morphology	7490	WT1	OMIM:194080
HP:0030669	Abnormal ocular adnexa morphology	8546	AP3B1	OMIM:608233
HP:0030669	Abnormal ocular adnexa morphology	9184	BUB3	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	9319	TRIP13	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	701	BUB1B	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	701	BUB1B	OMIM:257300
HP:0030669	Abnormal ocular adnexa morphology	23036	ZNF292	OMIM:619188
HP:0030669	Abnormal ocular adnexa morphology	3070	HELLS	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	3070	HELLS	OMIM:616911
HP:0030669	Abnormal ocular adnexa morphology	83879	CDCA7	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	83879	CDCA7	OMIM:616910
HP:0030669	Abnormal ocular adnexa morphology	1954	MEGF8	OMIM:614976
HP:0030669	Abnormal ocular adnexa morphology	84300	UQCC2	OMIM:615824
HP:0030669	Abnormal ocular adnexa morphology	53834	FGFRL1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	10522	DEAF1	OMIM:615828
HP:0030669	Abnormal ocular adnexa morphology	9653	HS2ST1	OMIM:619194
HP:0030669	Abnormal ocular adnexa morphology	10801	SEPTIN9	OMIM:162100
HP:0030669	Abnormal ocular adnexa morphology	7025	NR2F1	ORPHA:401777
HP:0030669	Abnormal ocular adnexa morphology	7025	NR2F1	OMIM:615722
HP:0030669	Abnormal ocular adnexa morphology	51660	MPC1	OMIM:614741
HP:0030669	Abnormal ocular adnexa morphology	9508	ADAMTS3	ORPHA:2136
HP:0030669	Abnormal ocular adnexa morphology	147372	CCBE1	ORPHA:2136
HP:0030669	Abnormal ocular adnexa morphology	147372	CCBE1	OMIM:235510
HP:0030669	Abnormal ocular adnexa morphology	6660	SOX5	OMIM:616803
HP:0030669	Abnormal ocular adnexa morphology	5828	PEX2	OMIM:614866
HP:0030669	Abnormal ocular adnexa morphology	5828	PEX2	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	6804	STX1A	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	7461	CLIP2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	84277	DNAJC30	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	8468	FKBP6	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	5982	RFC2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2969	GTF2I	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	3984	LIMK1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	9569	GTF2IRD1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	155382	VPS37D	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	155368	METTL27	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	114049	BUD23	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	7458	EIF4H	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	84163	GTF2IRD2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	9275	BCL7B	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	26608	TBL2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	653361	NCF1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	135886	TMEM270	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	51085	MLXIPL	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	51085	MLXIPL	OMIM:194050
HP:0030669	Abnormal ocular adnexa morphology	9031	BAZ1B	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2006	ELN	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2006	ELN	OMIM:194050
HP:0030669	Abnormal ocular adnexa morphology	285175	UNC80	OMIM:616801
HP:0030669	Abnormal ocular adnexa morphology	3211	HOXB1	OMIM:614744
HP:0030669	Abnormal ocular adnexa morphology	6329	SCN4A	ORPHA:99735
HP:0030669	Abnormal ocular adnexa morphology	8050	PDHX	OMIM:245349
HP:0030669	Abnormal ocular adnexa morphology	5594	MAPK1	OMIM:619087
HP:0030669	Abnormal ocular adnexa morphology	10430	TMEM147	OMIM:620075
HP:0030669	Abnormal ocular adnexa morphology	7355	SLC35A2	OMIM:300896
HP:0030669	Abnormal ocular adnexa morphology	10735	STAG2	ORPHA:521258
HP:0030669	Abnormal ocular adnexa morphology	8504	PEX3	OMIM:614882
HP:0030669	Abnormal ocular adnexa morphology	8504	PEX3	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	55275	VPS53	OMIM:615851
HP:0030669	Abnormal ocular adnexa morphology	2146	EZH2	OMIM:277590
HP:0030669	Abnormal ocular adnexa morphology	5824	PEX19	OMIM:614886
HP:0030669	Abnormal ocular adnexa morphology	5824	PEX19	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	50945	TBX22	ORPHA:921
HP:0030669	Abnormal ocular adnexa morphology	92154	MTSS2	OMIM:620086
HP:0030669	Abnormal ocular adnexa morphology	5631	PRPS1	OMIM:300661
HP:0030669	Abnormal ocular adnexa morphology	171023	ASXL1	OMIM:605039
HP:0030669	Abnormal ocular adnexa morphology	55023	PHIP	ORPHA:589905
HP:0030669	Abnormal ocular adnexa morphology	55023	PHIP	OMIM:617991
HP:0030669	Abnormal ocular adnexa morphology	5781	PTPN11	OMIM:151100
HP:0030669	Abnormal ocular adnexa morphology	5781	PTPN11	OMIM:163950
HP:0030669	Abnormal ocular adnexa morphology	867	CBL	OMIM:613563
HP:0030669	Abnormal ocular adnexa morphology	2245	FGD1	ORPHA:915
HP:0030669	Abnormal ocular adnexa morphology	1144	CHRND	OMIM:253290
HP:0030669	Abnormal ocular adnexa morphology	1134	CHRNA1	OMIM:253290
HP:0030669	Abnormal ocular adnexa morphology	196528	ARID2	OMIM:617808
HP:0030669	Abnormal ocular adnexa morphology	55670	PEX26	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	8799	PEX11B	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	9409	PEX16	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5193	PEX12	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5194	PEX13	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5195	PEX14	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5192	PEX10	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	3720	JARID2	OMIM:620098
HP:0030669	Abnormal ocular adnexa morphology	26123	TCTN3	OMIM:258860
HP:0030669	Abnormal ocular adnexa morphology	26123	TCTN3	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	84627	ZNF469	OMIM:229200
HP:0030669	Abnormal ocular adnexa morphology	9780	PIEZO1	OMIM:616843
HP:0030669	Abnormal ocular adnexa morphology	1788	DNMT3A	OMIM:615879
HP:0030669	Abnormal ocular adnexa morphology	1788	DNMT3A	OMIM:618724
HP:0030669	Abnormal ocular adnexa morphology	65062	TMEM237	OMIM:614424
HP:0030669	Abnormal ocular adnexa morphology	5859	QARS1	OMIM:615760
HP:0030669	Abnormal ocular adnexa morphology	169792	GLIS3	OMIM:610199
HP:0030669	Abnormal ocular adnexa morphology	55033	FKBP14	OMIM:614557
HP:0030669	Abnormal ocular adnexa morphology	5053	PAH	ORPHA:2209
HP:0030669	Abnormal ocular adnexa morphology	4131	MAP1B	OMIM:618918
HP:0030669	Abnormal ocular adnexa morphology	101929726	MYMX	ORPHA:1358
HP:0030669	Abnormal ocular adnexa morphology	5925	RB1	ORPHA:1587
HP:0030669	Abnormal ocular adnexa morphology	23511	NUP188	OMIM:618804
HP:0030669	Abnormal ocular adnexa morphology	64131	XYLT1	OMIM:615777
HP:0030669	Abnormal ocular adnexa morphology	54806	AHI1	OMIM:608629
HP:0030669	Abnormal ocular adnexa morphology	84342	COG8	OMIM:611182
HP:0030669	Abnormal ocular adnexa morphology	57511	COG6	OMIM:614576
HP:0030669	Abnormal ocular adnexa morphology	83696	TRAPPC9	ORPHA:352530
HP:0030669	Abnormal ocular adnexa morphology	7421	VDR	OMIM:277440
HP:0030669	Abnormal ocular adnexa morphology	5062	PAK2	ORPHA:1571
HP:0030669	Abnormal ocular adnexa morphology	139285	AMER1	ORPHA:2780
HP:0030669	Abnormal ocular adnexa morphology	139285	AMER1	OMIM:300373
HP:0030669	Abnormal ocular adnexa morphology	55644	OSGEP	OMIM:617729
HP:0030669	Abnormal ocular adnexa morphology	9361	LONP1	ORPHA:1458
HP:0030669	Abnormal ocular adnexa morphology	6628	SNRPB	OMIM:117650
HP:0030669	Abnormal ocular adnexa morphology	10367	MICU1	OMIM:615673
HP:0030669	Abnormal ocular adnexa morphology	51002	TPRKB	OMIM:617731
HP:0030669	Abnormal ocular adnexa morphology	4329	ALDH6A1	OMIM:614105
HP:0030669	Abnormal ocular adnexa morphology	4796	TONSL	ORPHA:93357
HP:0030669	Abnormal ocular adnexa morphology	55617	TASP1	OMIM:618950
HP:0030669	Abnormal ocular adnexa morphology	6182	MRPL12	OMIM:618951
HP:0030669	Abnormal ocular adnexa morphology	55704	CCDC88A	OMIM:617507
HP:0030669	Abnormal ocular adnexa morphology	4841	NONO	ORPHA:466791
HP:0030669	Abnormal ocular adnexa morphology	9320	TRIP12	OMIM:617752
HP:0030669	Abnormal ocular adnexa morphology	26503	SLC17A5	OMIM:269920
HP:0030669	Abnormal ocular adnexa morphology	1748	DLX4	OMIM:616788
HP:0030669	Abnormal ocular adnexa morphology	1663	DDX11	OMIM:613398
HP:0030669	Abnormal ocular adnexa morphology	5455	POU3F3	OMIM:618604
HP:0030669	Abnormal ocular adnexa morphology	9757	KMT2B	OMIM:619934
HP:0030669	Abnormal ocular adnexa morphology	10210	TOPORS	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	5147	PDE6D	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	51259	TMEM216	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	317662	FAM149B1	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	5087	PBX1	OMIM:617641
HP:0030669	Abnormal ocular adnexa morphology	6736	SRY	ORPHA:1772
HP:0030669	Abnormal ocular adnexa morphology	8449	DHX16	OMIM:618733
HP:0030669	Abnormal ocular adnexa morphology	58499	ZNF462	OMIM:618619
HP:0030669	Abnormal ocular adnexa morphology	1278	COL1A2	ORPHA:1899
HP:0030669	Abnormal ocular adnexa morphology	6843	VAMP1	ORPHA:251282
HP:0030669	Abnormal ocular adnexa morphology	1493	CTLA4	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	940	CD28	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	7133	TNFRSF1B	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	340533	NEXMIF	OMIM:300912
HP:0030669	Abnormal ocular adnexa morphology	10743	RAI1	ORPHA:477817
HP:0030669	Abnormal ocular adnexa morphology	10743	RAI1	ORPHA:1713
HP:0030669	Abnormal ocular adnexa morphology	27245	AHDC1	ORPHA:412069
HP:0030669	Abnormal ocular adnexa morphology	27245	AHDC1	OMIM:615829
HP:0030669	Abnormal ocular adnexa morphology	55904	KMT2E	OMIM:618512
HP:0030669	Abnormal ocular adnexa morphology	2590	GALNT2	OMIM:618885
HP:0030669	Abnormal ocular adnexa morphology	5528	PPP2R5D	OMIM:616355
HP:0030669	Abnormal ocular adnexa morphology	5528	PPP2R5D	ORPHA:457279
HP:0030669	Abnormal ocular adnexa morphology	3737	KCNA2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	10991	SLC38A3	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	51343	FZR1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	22906	TRAK1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2566	GABRG2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2561	GABRB2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	8831	SYNGAP1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	7532	YWHAG	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	79876	UBA5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6328	SCN3A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2558	GABRA5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	781	CACNA2D1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2906	GRIN2D	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	116150	NUS1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	10659	CELF2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	774	CACNA1B	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	1213	CLTC	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	51412	ACTL6B	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	348980	HCN1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6506	SLC1A2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	8867	SYNJ1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2258	FGF13	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	477	ATP1A2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	3745	KCNB1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	284111	SLC13A5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	25977	NECAP1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	16	AARS1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6334	SCN8A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	22866	CNKSR2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	9568	GABBR2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2555	GABRA2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	55152	DALRD3	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	773	CACNA1A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	4915	NTRK2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	25973	PARS2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	23097	CDK19	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	64801	ARV1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	79947	DHDDS	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2257	FGF12	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	5530	PPP3CA	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	478	ATP1A3	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	10716	TBR1	ORPHA:1617
HP:0030669	Abnormal ocular adnexa morphology	3476	IGBP1	ORPHA:52055
HP:0030669	Abnormal ocular adnexa morphology	3476	IGBP1	OMIM:300472
HP:0030669	Abnormal ocular adnexa morphology	5518	PPP2R1A	OMIM:616362
HP:0030669	Abnormal ocular adnexa morphology	253738	EBF3	OMIM:617330
HP:0030669	Abnormal ocular adnexa morphology	23512	SUZ12	OMIM:618786
HP:0030669	Abnormal ocular adnexa morphology	23512	SUZ12	ORPHA:3447
HP:0030669	Abnormal ocular adnexa morphology	3590	IL11RA	OMIM:614188
HP:0030669	Abnormal ocular adnexa morphology	7862	BRPF1	OMIM:617333
HP:0030669	Abnormal ocular adnexa morphology	23126	POGZ	OMIM:616364
HP:0030669	Abnormal ocular adnexa morphology	57680	CHD8	OMIM:615032
HP:0030669	Abnormal ocular adnexa morphology	3572	IL6ST	OMIM:619750
HP:0030669	Abnormal ocular adnexa morphology	145258	GSC	OMIM:602471
HP:0030669	Abnormal ocular adnexa morphology	8314	BAP1	OMIM:619762
HP:0030669	Abnormal ocular adnexa morphology	259232	NALCN	OMIM:616266
HP:0030669	Abnormal ocular adnexa morphology	259232	NALCN	ORPHA:2053
HP:0030669	Abnormal ocular adnexa morphology	259232	NALCN	ORPHA:371364
HP:0030669	Abnormal ocular adnexa morphology	8813	DPM1	ORPHA:79322
HP:0030669	Abnormal ocular adnexa morphology	8813	DPM1	OMIM:608799
HP:0030669	Abnormal ocular adnexa morphology	10262	SF3B4	ORPHA:245
HP:0030669	Abnormal ocular adnexa morphology	10262	SF3B4	OMIM:154400
HP:0030669	Abnormal ocular adnexa morphology	91252	SLC39A13	ORPHA:157965
HP:0030669	Abnormal ocular adnexa morphology	91252	SLC39A13	OMIM:612350
HP:0030669	Abnormal ocular adnexa morphology	9949	AMMECR1	OMIM:300990
HP:0030669	Abnormal ocular adnexa morphology	9949	AMMECR1	ORPHA:86818
HP:0030669	Abnormal ocular adnexa morphology	8925	HERC1	OMIM:617011
HP:0030669	Abnormal ocular adnexa morphology	8925	HERC1	ORPHA:457359
HP:0030669	Abnormal ocular adnexa morphology	56896	DPYSL5	OMIM:619435
HP:0030669	Abnormal ocular adnexa morphology	4598	MVK	ORPHA:29
HP:0030669	Abnormal ocular adnexa morphology	4598	MVK	OMIM:610377
HP:0030669	Abnormal ocular adnexa morphology	10765	KDM5B	OMIM:618109
HP:0030669	Abnormal ocular adnexa morphology	5396	PRRX1	OMIM:202650
HP:0030669	Abnormal ocular adnexa morphology	6418	SET	OMIM:618106
HP:0030669	Abnormal ocular adnexa morphology	7372	UMPS	ORPHA:30
HP:0030669	Abnormal ocular adnexa morphology	91754	NEK9	OMIM:617022
HP:0030669	Abnormal ocular adnexa morphology	9871	SEC24D	OMIM:616294
HP:0030669	Abnormal ocular adnexa morphology	9871	SEC24D	ORPHA:2050
HP:0030669	Abnormal ocular adnexa morphology	9342	SNAP29	ORPHA:66631
HP:0030669	Abnormal ocular adnexa morphology	9342	SNAP29	OMIM:609528
HP:0030669	Abnormal ocular adnexa morphology	83999	KREMEN1	OMIM:617392
HP:0030669	Abnormal ocular adnexa morphology	51132	RLIM	OMIM:300978
HP:0030669	Abnormal ocular adnexa morphology	201163	FLCN	OMIM:610883
HP:0030669	Abnormal ocular adnexa morphology	29920	PYCR2	ORPHA:481152
HP:0030669	Abnormal ocular adnexa morphology	29920	PYCR2	OMIM:616420
HP:0030669	Abnormal ocular adnexa morphology	92344	GORAB	OMIM:231070
HP:0030669	Abnormal ocular adnexa morphology	7136	TNNI2	OMIM:601680
HP:0030669	Abnormal ocular adnexa morphology	10524	KAT5	OMIM:619103
HP:0030669	Abnormal ocular adnexa morphology	372	ARCN1	OMIM:617164
HP:0030669	Abnormal ocular adnexa morphology	633	BGN	OMIM:300989
HP:0030669	Abnormal ocular adnexa morphology	22808	MRAS	OMIM:618499
HP:0030669	Abnormal ocular adnexa morphology	22808	MRAS	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	2475	MTOR	ORPHA:457485
HP:0030669	Abnormal ocular adnexa morphology	2475	MTOR	OMIM:616638
HP:0030669	Abnormal ocular adnexa morphology	6304	SATB1	OMIM:619229
HP:0030669	Abnormal ocular adnexa morphology	23594	ORC6	OMIM:613803
HP:0030669	Abnormal ocular adnexa morphology	5913	RAPSN	OMIM:618388
HP:0030669	Abnormal ocular adnexa morphology	285489	DOK7	OMIM:618389
HP:0030669	Abnormal ocular adnexa morphology	285590	SH3PXD2B	ORPHA:137834
HP:0030669	Abnormal ocular adnexa morphology	285590	SH3PXD2B	OMIM:249420
HP:0030669	Abnormal ocular adnexa morphology	23067	SETD1B	OMIM:619000
HP:0030669	Abnormal ocular adnexa morphology	23112	TNRC6B	OMIM:619243
HP:0030669	Abnormal ocular adnexa morphology	22995	CEP152	OMIM:613823
HP:0030669	Abnormal ocular adnexa morphology	22995	CEP152	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	4781	NFIB	OMIM:618286
HP:0030669	Abnormal ocular adnexa morphology	2733	GLE1	OMIM:611890
HP:0030669	Abnormal ocular adnexa morphology	22800	RRAS2	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	6237	RRAS	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	6655	SOS2	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	6655	SOS2	OMIM:616559
HP:0030669	Abnormal ocular adnexa morphology	5922	RASA2	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	84081	NSRP1	OMIM:620001
HP:0030669	Abnormal ocular adnexa morphology	9897	WASHC5	ORPHA:7
HP:0030669	Abnormal ocular adnexa morphology	9897	WASHC5	OMIM:220210
HP:0030669	Abnormal ocular adnexa morphology	28952	CCDC22	ORPHA:7
HP:0030669	Abnormal ocular adnexa morphology	80704	SLC19A3	ORPHA:263410
HP:0030669	Abnormal ocular adnexa morphology	51109	RDH11	ORPHA:436245
HP:0030669	Abnormal ocular adnexa morphology	7042	TGFB2	OMIM:614816
HP:0030669	Abnormal ocular adnexa morphology	54084	TSPEAR	OMIM:618180
HP:0030669	Abnormal ocular adnexa morphology	324	APC	ORPHA:261584
HP:0030669	Abnormal ocular adnexa morphology	324	APC	ORPHA:3258
HP:0030669	Abnormal ocular adnexa morphology	1183	CLCN4	OMIM:300114
HP:0030669	Abnormal ocular adnexa morphology	5034	P4HB	ORPHA:2050
HP:0030669	Abnormal ocular adnexa morphology	23241	PACS2	OMIM:618067
HP:0030669	Abnormal ocular adnexa morphology	84282	RNF135	ORPHA:137634
HP:0030669	Abnormal ocular adnexa morphology	8854	ALDH1A2	OMIM:620025
HP:0030669	Abnormal ocular adnexa morphology	1299	COL9A3	OMIM:620022
HP:0030669	Abnormal ocular adnexa morphology	64324	NSD1	ORPHA:821
HP:0030669	Abnormal ocular adnexa morphology	64324	NSD1	OMIM:117550
HP:0030669	Abnormal ocular adnexa morphology	64324	NSD1	ORPHA:3447
HP:0030669	Abnormal ocular adnexa morphology	10297	APC2	ORPHA:821
HP:0030669	Abnormal ocular adnexa morphology	23431	AP4E1	OMIM:613744
HP:0030669	Abnormal ocular adnexa morphology	150468	CKAP2L	ORPHA:3255
HP:0030669	Abnormal ocular adnexa morphology	271	AMPD2	OMIM:615809
HP:0030669	Abnormal ocular adnexa morphology	9382	COG1	OMIM:611209
HP:0030669	Abnormal ocular adnexa morphology	9382	COG1	ORPHA:263508
HP:0030669	Abnormal ocular adnexa morphology	4038	LRP4	ORPHA:3258
HP:0030669	Abnormal ocular adnexa morphology	4038	LRP4	OMIM:212780
HP:0030669	Abnormal ocular adnexa morphology	4036	LRP2	ORPHA:2143
HP:0030669	Abnormal ocular adnexa morphology	4036	LRP2	OMIM:222448
HP:0030669	Abnormal ocular adnexa morphology	1302	COL11A2	ORPHA:2021
HP:0030669	Abnormal ocular adnexa morphology	657	BMPR1A	ORPHA:79076
HP:0030669	Abnormal ocular adnexa morphology	197257	LDHD	OMIM:245450
HP:0030669	Abnormal ocular adnexa morphology	55719	SLF2	OMIM:620184
HP:0030669	Abnormal ocular adnexa morphology	55027	HEATR3	OMIM:620072
HP:0030669	Abnormal ocular adnexa morphology	9652	SKIC3	OMIM:222470
HP:0030669	Abnormal ocular adnexa morphology	545	ATR	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	545	ATR	OMIM:210600
HP:0030669	Abnormal ocular adnexa morphology	1062	CENPE	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	5932	RBBP8	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	79902	NUP85	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	84126	ATRIP	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	55835	CENPJ	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	10293	TRAIP	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	84317	CCDC115	OMIM:616828
HP:0030669	Abnormal ocular adnexa morphology	83479	DDX59	OMIM:174300
HP:0030669	Abnormal ocular adnexa morphology	84679	SLC9A7	OMIM:301024
HP:0030669	Abnormal ocular adnexa morphology	90161	HS6ST2	OMIM:301025
HP:0030669	Abnormal ocular adnexa morphology	63035	BCORL1	OMIM:301029
HP:0030669	Abnormal ocular adnexa morphology	1778	DYNC1H1	OMIM:614563
HP:0030669	Abnormal ocular adnexa morphology	2248	FGF3	ORPHA:90024
HP:0030669	Abnormal ocular adnexa morphology	5718	PSMD12	ORPHA:529962
HP:0030669	Abnormal ocular adnexa morphology	538	ATP7A	ORPHA:198
HP:0030669	Abnormal ocular adnexa morphology	8929	PHOX2B	OMIM:209880
HP:0030669	Abnormal ocular adnexa morphology	91461	PKDCC	OMIM:618821
HP:0030669	Abnormal ocular adnexa morphology	80152	CENPT	OMIM:618702
HP:0030669	Abnormal ocular adnexa morphology	26047	CNTNAP2	ORPHA:163681
HP:0030669	Abnormal ocular adnexa morphology	23630	KCNE5	ORPHA:86818
HP:0030669	Abnormal ocular adnexa morphology	2182	ACSL4	ORPHA:86818
HP:0030669	Abnormal ocular adnexa morphology	2273	FHL1	OMIM:300280
HP:0030669	Abnormal ocular adnexa morphology	8777	MPDZ	OMIM:615219
HP:0030669	Abnormal ocular adnexa morphology	3778	KCNMA1	OMIM:618729
HP:0030669	Abnormal ocular adnexa morphology	26229	B3GAT3	OMIM:245600
HP:0030669	Abnormal ocular adnexa morphology	5307	PITX1	OMIM:119800
HP:0030669	Abnormal ocular adnexa morphology	18	ABAT	OMIM:613163
HP:0030669	Abnormal ocular adnexa morphology	7545	ZIC1	OMIM:618736
HP:0030669	Abnormal ocular adnexa morphology	4858	NOVA2	OMIM:618859
HP:0030669	Abnormal ocular adnexa morphology	55753	OGDHL	OMIM:619701
HP:0030669	Abnormal ocular adnexa morphology	348	APOE	ORPHA:158029
HP:0030669	Abnormal ocular adnexa morphology	6868	ADAM17	OMIM:614328
HP:0030669	Abnormal ocular adnexa morphology	6868	ADAM17	ORPHA:294023
HP:0030669	Abnormal ocular adnexa morphology	10095	ARPC1B	OMIM:617718
HP:0030669	Abnormal ocular adnexa morphology	6768	ST14	OMIM:602400
HP:0030669	Abnormal ocular adnexa morphology	10758	TRAF3IP2	OMIM:615527
HP:0030669	Abnormal ocular adnexa morphology	1474	CST6	OMIM:618535
HP:0030669	Abnormal ocular adnexa morphology	6307	MSMO1	OMIM:616834
HP:0030669	Abnormal ocular adnexa morphology	147409	DSG4	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3892	KRT86	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3889	KRT83	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3887	KRT81	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	1041	CDSN	ORPHA:90368
HP:0030669	Abnormal ocular adnexa morphology	121391	KRT74	ORPHA:90368
HP:0030669	Abnormal ocular adnexa morphology	121391	KRT74	OMIM:194300
HP:0030669	Abnormal ocular adnexa morphology	121391	KRT74	OMIM:613981
HP:0030669	Abnormal ocular adnexa morphology	85378	TUBGCP6	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	27229	TUBGCP4	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	10733	PLK4	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	22947	DUX4L1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	2483	FRG1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	23347	SMCHD1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	100288687	DUX4	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	124583	CANT1	ORPHA:1425
HP:0030669	Abnormal ocular adnexa morphology	55790	CSGALNACT1	ORPHA:1425
HP:0030669	Abnormal ocular adnexa morphology	80169	CTC1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	26277	TINF2	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55651	NHP2	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55135	WRAP53	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	51750	RTEL1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	4869	NPM1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7012	TERC	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55505	NOP10	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	5073	PARN	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7015	TERT	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7298	TYMS	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	355	FAS	ORPHA:3437
HP:0030669	Abnormal ocular adnexa morphology	26191	PTPN22	ORPHA:3437
HP:0030669	Abnormal ocular adnexa morphology	5333	PLCD1	ORPHA:2387
HP:0030669	Abnormal ocular adnexa morphology	427	ASAH1	ORPHA:333
HP:0030669	Abnormal ocular adnexa morphology	3861	KRT14	OMIM:125595
HP:0030669	Abnormal ocular adnexa morphology	56244	BTNL2	ORPHA:797
HP:0030669	Abnormal ocular adnexa morphology	3123	HLA-DRB1	ORPHA:797
HP:0030669	Abnormal ocular adnexa morphology	3851	KRT4	OMIM:193900
HP:0030669	Abnormal ocular adnexa morphology	2517	FUCA1	OMIM:230000
HP:0030669	Abnormal ocular adnexa morphology	55129	ANO10	ORPHA:284289
HP:0030669	Abnormal ocular adnexa morphology	55129	ANO10	OMIM:613728
HP:0030669	Abnormal ocular adnexa morphology	4668	NAGA	OMIM:609242
HP:0030669	Abnormal ocular adnexa morphology	4126	MANBA	OMIM:248510
HP:0030669	Abnormal ocular adnexa morphology	10682	EBP	ORPHA:401973
HP:0030669	Abnormal ocular adnexa morphology	128	ADH5	OMIM:619151
HP:0030669	Abnormal ocular adnexa morphology	7528	YY1	ORPHA:506358
HP:0030669	Abnormal ocular adnexa morphology	7528	YY1	OMIM:617557
HP:0030669	Abnormal ocular adnexa morphology	23141	ANKLE2	OMIM:616681
HP:0030669	Abnormal ocular adnexa morphology	894	CCND2	ORPHA:83473
HP:0030669	Abnormal ocular adnexa morphology	10000	AKT3	ORPHA:83473
HP:0030669	Abnormal ocular adnexa morphology	56172	ANKH	ORPHA:1522
HP:0030669	Abnormal ocular adnexa morphology	3265	HRAS	ORPHA:2612
HP:0030669	Abnormal ocular adnexa morphology	4893	NRAS	ORPHA:2612
HP:0030669	Abnormal ocular adnexa morphology	26128	KIFBP	OMIM:609460
HP:0030669	Abnormal ocular adnexa morphology	23135	KDM6B	OMIM:618505
HP:0030669	Abnormal ocular adnexa morphology	57539	WDR35	OMIM:613610
HP:0030669	Abnormal ocular adnexa morphology	3008	H1-4	OMIM:617537
HP:0030669	Abnormal ocular adnexa morphology	7518	XRCC4	ORPHA:99812
HP:0030669	Abnormal ocular adnexa morphology	3981	LIG4	ORPHA:99812
HP:0030669	Abnormal ocular adnexa morphology	3981	LIG4	ORPHA:235
HP:0030669	Abnormal ocular adnexa morphology	1836	SLC26A2	ORPHA:56304
HP:0030669	Abnormal ocular adnexa morphology	4784	NFIX	ORPHA:447980
HP:0030669	Abnormal ocular adnexa morphology	2316	FLNA	OMIM:300244
HP:0030669	Abnormal ocular adnexa morphology	4281	MID1	OMIM:300000
HP:0030669	Abnormal ocular adnexa morphology	4281	MID1	ORPHA:2745
HP:0030669	Abnormal ocular adnexa morphology	2737	GLI3	ORPHA:380
HP:0030669	Abnormal ocular adnexa morphology	2317	FLNB	ORPHA:1190
HP:0030669	Abnormal ocular adnexa morphology	4010	LMX1B	ORPHA:495818
HP:0030669	Abnormal ocular adnexa morphology	6812	STXBP1	ORPHA:495818
HP:0030669	Abnormal ocular adnexa morphology	6197	RPS6KA3	OMIM:303600
HP:0030669	Abnormal ocular adnexa morphology	79029	AFG2B	OMIM:619616
HP:0030669	Abnormal ocular adnexa morphology	284252	KCTD1	ORPHA:2036
HP:0030669	Abnormal ocular adnexa morphology	284252	KCTD1	OMIM:181270
HP:0030669	Abnormal ocular adnexa morphology	546	ATRX	ORPHA:847
HP:0030669	Abnormal ocular adnexa morphology	7020	TFAP2A	OMIM:113620
HP:0030669	Abnormal ocular adnexa morphology	1281	COL3A1	ORPHA:286
HP:0030669	Abnormal ocular adnexa morphology	9839	ZEB2	ORPHA:261552
HP:0030669	Abnormal ocular adnexa morphology	9839	ZEB2	ORPHA:261537
HP:0030669	Abnormal ocular adnexa morphology	6885	MAP3K7	OMIM:157800
HP:0030669	Abnormal ocular adnexa morphology	55148	UBR7	OMIM:619189
HP:0030669	Abnormal ocular adnexa morphology	26005	C2CD3	OMIM:615948
HP:0030669	Abnormal ocular adnexa morphology	26005	C2CD3	ORPHA:434179
HP:0030669	Abnormal ocular adnexa morphology	3192	HNRNPU	ORPHA:238769
HP:0030669	Abnormal ocular adnexa morphology	54888	NSUN2	ORPHA:235
HP:0030669	Abnormal ocular adnexa morphology	54888	NSUN2	OMIM:611091
HP:0030669	Abnormal ocular adnexa morphology	1947	EFNB1	OMIM:304110
HP:0030669	Abnormal ocular adnexa morphology	8558	CDK10	OMIM:617694
HP:0030669	Abnormal ocular adnexa morphology	23259	DDHD2	OMIM:615033
HP:0030669	Abnormal ocular adnexa morphology	9091	PIGQ	OMIM:618548
HP:0030669	Abnormal ocular adnexa morphology	79796	ALG9	ORPHA:79328
HP:0030669	Abnormal ocular adnexa morphology	79796	ALG9	OMIM:263210
HP:0030669	Abnormal ocular adnexa morphology	4286	MITF	OMIM:193510
HP:0030669	Abnormal ocular adnexa morphology	4286	MITF	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	4286	MITF	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	7750	ZMYM2	OMIM:619522
HP:0030669	Abnormal ocular adnexa morphology	51098	IFT52	OMIM:617102
HP:0030669	Abnormal ocular adnexa morphology	113179	ADAT3	OMIM:615286
HP:0030669	Abnormal ocular adnexa morphology	113179	ADAT3	ORPHA:363528
HP:0030669	Abnormal ocular adnexa morphology	92002	CCNQ	ORPHA:140952
HP:0030669	Abnormal ocular adnexa morphology	92002	CCNQ	OMIM:300707
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	OMIM:311200
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	ORPHA:2750
HP:0030669	Abnormal ocular adnexa morphology	57688	ZSWIM6	OMIM:603671
HP:0030669	Abnormal ocular adnexa morphology	57688	ZSWIM6	ORPHA:1827
HP:0030669	Abnormal ocular adnexa morphology	5727	PTCH1	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	8643	PTCH2	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	51684	SUFU	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	5295	PIK3R1	OMIM:269880
HP:0030669	Abnormal ocular adnexa morphology	5295	PIK3R1	ORPHA:3163
HP:0030669	Abnormal ocular adnexa morphology	54941	RNF125	OMIM:616260
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:193500
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	ORPHA:896
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:148820
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	ORPHA:894
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:122880
HP:0030669	Abnormal ocular adnexa morphology	112752	IFT43	OMIM:614099
HP:0030669	Abnormal ocular adnexa morphology	51013	EXOSC1	OMIM:619304
HP:0030669	Abnormal ocular adnexa morphology	6497	SKI	ORPHA:2462
HP:0030669	Abnormal ocular adnexa morphology	6497	SKI	OMIM:182212
HP:0030669	Abnormal ocular adnexa morphology	55593	OTUD5	OMIM:301056
HP:0030669	Abnormal ocular adnexa morphology	5308	PITX2	ORPHA:782
HP:0030669	Abnormal ocular adnexa morphology	2296	FOXC1	ORPHA:782
HP:0030669	Abnormal ocular adnexa morphology	128869	PIGU	OMIM:618590
HP:0030669	Abnormal ocular adnexa morphology	4854	NOTCH3	OMIM:130720
HP:0030669	Abnormal ocular adnexa morphology	57520	HECW2	OMIM:617268
HP:0030669	Abnormal ocular adnexa morphology	117581	TWIST2	ORPHA:1231
HP:0030669	Abnormal ocular adnexa morphology	117581	TWIST2	OMIM:209885
HP:0030669	Abnormal ocular adnexa morphology	1908	EDN3	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	1910	EDNRB	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	1910	EDNRB	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	6663	SOX10	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	6663	SOX10	ORPHA:163746
HP:0030669	Abnormal ocular adnexa morphology	6663	SOX10	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	3417	IDH1	ORPHA:99646
HP:0030669	Abnormal ocular adnexa morphology	4621	MYH3	OMIM:193700
HP:0030669	Abnormal ocular adnexa morphology	4621	MYH3	ORPHA:2990
HP:0030669	Abnormal ocular adnexa morphology	10265	IRX5	OMIM:611174
HP:0030669	Abnormal ocular adnexa morphology	7468	NSD2	OMIM:619695
HP:0030669	Abnormal ocular adnexa morphology	29940	DSE	OMIM:615539
HP:0030669	Abnormal ocular adnexa morphology	1312	COMT	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	221037	JMJD1C	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	2812	GP1BB	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	6239	RREB1	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	7290	HIRA	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	9632	SEC24C	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	7353	UFD1	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	421	ARVCF	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	1000	CDH2	OMIM:618929
HP:0030669	Abnormal ocular adnexa morphology	55764	IFT122	OMIM:218330
HP:0030669	Abnormal ocular adnexa morphology	10943	MSL3	OMIM:301032
HP:0030669	Abnormal ocular adnexa morphology	9509	ADAMTS2	OMIM:225410
HP:0030669	Abnormal ocular adnexa morphology	5745	PTH1R	ORPHA:50945
HP:0030669	Abnormal ocular adnexa morphology	9419	CRIPT	OMIM:615789
HP:0030669	Abnormal ocular adnexa morphology	9343	EFTUD2	OMIM:610536
HP:0030669	Abnormal ocular adnexa morphology	9343	EFTUD2	ORPHA:79113
HP:0030669	Abnormal ocular adnexa morphology	11285	B4GALT7	ORPHA:75496
HP:0030669	Abnormal ocular adnexa morphology	80036	TRPM3	OMIM:620224
HP:0030669	Abnormal ocular adnexa morphology	80781	COL18A1	OMIM:267750
HP:0030669	Abnormal ocular adnexa morphology	113189	CHST14	OMIM:601776
HP:0030669	Abnormal ocular adnexa morphology	51715	RAB23	OMIM:201000
HP:0030669	Abnormal ocular adnexa morphology	114928	GPRASP2	OMIM:301018
HP:0030669	Abnormal ocular adnexa morphology	202018	TAPT1	OMIM:616897
HP:0030669	Abnormal ocular adnexa morphology	2890	GRIA1	OMIM:619927
HP:0030669	Abnormal ocular adnexa morphology	7299	TYR	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	6591	SNAI2	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	4254	KITLG	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	4254	KITLG	OMIM:619947
HP:0030669	Abnormal ocular adnexa morphology	403	ARL3	OMIM:618161
HP:0030669	Abnormal ocular adnexa morphology	10084	PQBP1	OMIM:309500
HP:0030669	Abnormal ocular adnexa morphology	55733	HHAT	ORPHA:1422
HP:0030669	Abnormal ocular adnexa morphology	170692	ADAMTS18	OMIM:615458
HP:0030669	Abnormal ocular adnexa morphology	10584	COLEC10	ORPHA:293843
HP:0030669	Abnormal ocular adnexa morphology	78989	COLEC11	ORPHA:293843
HP:0030669	Abnormal ocular adnexa morphology	1146	CHRNG	ORPHA:2990
HP:0030669	Abnormal ocular adnexa morphology	4750	NEK1	ORPHA:2751
HP:0030669	Abnormal ocular adnexa morphology	11011	TLK2	OMIM:618050
HP:0030669	Abnormal ocular adnexa morphology	129285	PPP1R21	OMIM:619383
HP:0030669	Abnormal ocular adnexa morphology	23102	TBC1D2B	ORPHA:397973
HP:0030669	Abnormal ocular adnexa morphology	84148	KAT8	OMIM:618974
HP:0030669	Abnormal ocular adnexa morphology	4654	MYOD1	OMIM:618975
HP:0030669	Abnormal ocular adnexa morphology	2108	ETFA	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	2109	ETFB	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	2110	ETFDH	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	10804	GJB6	ORPHA:477
HP:0030669	Abnormal ocular adnexa morphology	10804	GJB6	OMIM:129500
HP:0030669	Abnormal ocular adnexa morphology	2706	GJB2	ORPHA:477
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	OMIM:300755
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	ORPHA:47
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	OMIM:307200
HP:0030669	Abnormal ocular adnexa morphology	930	CD19	OMIM:613493
HP:0030669	Abnormal ocular adnexa morphology	930	CD19	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:617772
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:191900
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	ORPHA:575
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	ORPHA:47045
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:120100
HP:0030669	Abnormal ocular adnexa morphology	987	LRBA	OMIM:614700
HP:0030669	Abnormal ocular adnexa morphology	7454	WAS	ORPHA:906
HP:0030669	Abnormal ocular adnexa morphology	7456	WIPF1	ORPHA:906
HP:0030669	Abnormal ocular adnexa morphology	1736	DKC1	OMIM:305000
HP:0030669	Abnormal ocular adnexa morphology	1776	DNASE1L3	ORPHA:36412
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:94089
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:79443
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:79444
HP:0030669	Abnormal ocular adnexa morphology	8675	STX16	ORPHA:94089
HP:0030669	Abnormal ocular adnexa morphology	1161	ERCC8	ORPHA:90321
HP:0030669	Abnormal ocular adnexa morphology	1161	ERCC8	ORPHA:90322
HP:0030669	Abnormal ocular adnexa morphology	2074	ERCC6	ORPHA:90321
HP:0030669	Abnormal ocular adnexa morphology	2074	ERCC6	ORPHA:90322
HP:0030669	Abnormal ocular adnexa morphology	2074	ERCC6	OMIM:278800
HP:0030669	Abnormal ocular adnexa morphology	79650	USB1	OMIM:604173
HP:0030669	Abnormal ocular adnexa morphology	2067	ERCC1	ORPHA:90322
HP:0030669	Abnormal ocular adnexa morphology	3507	IGHM	OMIM:601495
HP:0030669	Abnormal ocular adnexa morphology	3507	IGHM	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	55630	SLC39A4	ORPHA:37
HP:0030669	Abnormal ocular adnexa morphology	8676	STX11	OMIM:603552
HP:0030669	Abnormal ocular adnexa morphology	5896	RAG1	OMIM:601457
HP:0030669	Abnormal ocular adnexa morphology	5897	RAG2	OMIM:601457
HP:0030669	Abnormal ocular adnexa morphology	3106	HLA-B	ORPHA:29207
HP:0030669	Abnormal ocular adnexa morphology	3106	HLA-B	ORPHA:36426
HP:0030669	Abnormal ocular adnexa morphology	1294	COL7A1	OMIM:226600
HP:0030669	Abnormal ocular adnexa morphology	4312	MMP1	OMIM:226600
HP:0030669	Abnormal ocular adnexa morphology	162	AP1B1	OMIM:242150
HP:0030669	Abnormal ocular adnexa morphology	5075	PAX1	OMIM:615560
HP:0030669	Abnormal ocular adnexa morphology	974	CD79B	OMIM:612692
HP:0030669	Abnormal ocular adnexa morphology	974	CD79B	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	5429	POLH	OMIM:278750
HP:0030669	Abnormal ocular adnexa morphology	5340	PLG	OMIM:217090
HP:0030669	Abnormal ocular adnexa morphology	7132	TNFRSF1A	ORPHA:32960
HP:0030669	Abnormal ocular adnexa morphology	7132	TNFRSF1A	OMIM:142680
HP:0030669	Abnormal ocular adnexa morphology	7086	TKT	ORPHA:488618
HP:0030669	Abnormal ocular adnexa morphology	29851	ICOS	OMIM:607594
HP:0030669	Abnormal ocular adnexa morphology	29851	ICOS	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	10320	IKZF1	ORPHA:36426
HP:0030669	Abnormal ocular adnexa morphology	23495	TNFRSF13B	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	115650	TNFRSF13C	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	1380	CR2	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	55612	FERMT1	ORPHA:2908
HP:0030669	Abnormal ocular adnexa morphology	5692	PSMB4	OMIM:617591
HP:0030669	Abnormal ocular adnexa morphology	5698	PSMB9	OMIM:617591
HP:0030669	Abnormal ocular adnexa morphology	7037	TFRC	OMIM:616740
HP:0030669	Abnormal ocular adnexa morphology	686	BTD	OMIM:253260
HP:0030669	Abnormal ocular adnexa morphology	686	BTD	ORPHA:79241
HP:0030669	Abnormal ocular adnexa morphology	2077	ERF	ORPHA:207
HP:0030669	Abnormal ocular adnexa morphology	404672	GTF2H5	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	833	CARS1	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	7737	RNF113A	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	136647	MPLKIP	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	6897	TARS1	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	2961	GTF2E2	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	2303	FOXC2	ORPHA:33001
HP:0030669	Abnormal ocular adnexa morphology	2303	FOXC2	OMIM:153400
HP:0030669	Abnormal ocular adnexa morphology	54809	SAMD9	OMIM:610455
HP:0030669	Abnormal ocular adnexa morphology	5696	PSMB8	OMIM:256040
HP:0030669	Abnormal ocular adnexa morphology	6929	TCF3	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	973	CD79A	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	3543	IGLL1	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	29760	BLNK	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	56262	LRRC8A	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	94	ACVRL1	OMIM:600376
HP:0030669	Abnormal ocular adnexa morphology	94	ACVRL1	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2658	GDF2	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2022	ENG	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2022	ENG	OMIM:187300
HP:0030669	Abnormal ocular adnexa morphology	3978	LIG1	OMIM:619774
HP:0030669	Abnormal ocular adnexa morphology	23328	SASH1	OMIM:618373
HP:0030669	Abnormal ocular adnexa morphology	4683	NBN	OMIM:251260
HP:0030669	Abnormal ocular adnexa morphology	5648	MASP1	OMIM:257920
HP:0030669	Abnormal ocular adnexa morphology	472	ATM	OMIM:208900
HP:0030669	Abnormal ocular adnexa morphology	23064	SETX	OMIM:606002
HP:0030669	Abnormal ocular adnexa morphology	5190	PEX6	ORPHA:95433
HP:0030669	Abnormal ocular adnexa morphology	165918	RNF168	ORPHA:420741
HP:0030669	Abnormal ocular adnexa morphology	5111	PCNA	OMIM:615919
HP:0030669	Abnormal ocular adnexa morphology	5476	CTSA	OMIM:256540
HP:0030669	Abnormal ocular adnexa morphology	2717	GLA	ORPHA:324
HP:0030669	Abnormal ocular adnexa morphology	2068	ERCC2	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	7507	XPA	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	2071	ERCC3	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	7508	XPC	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	1643	DDB2	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	2073	ERCC5	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	2776	GNAQ	ORPHA:3205
HP:0030669	Abnormal ocular adnexa morphology	8243	SMC1A	OMIM:300590
HP:0030669	Abnormal ocular adnexa morphology	8243	SMC1A	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	8036	SHOC2	OMIM:607721
HP:0030669	Abnormal ocular adnexa morphology	11253	MAN1B1	ORPHA:397941
HP:0030669	Abnormal ocular adnexa morphology	9853	RUSC2	OMIM:617773
HP:0030669	Abnormal ocular adnexa morphology	6228	RPS23	OMIM:617412
HP:0030669	Abnormal ocular adnexa morphology	4897	NRCAM	OMIM:619833
HP:0030669	Abnormal ocular adnexa morphology	10586	MAB21L2	OMIM:615877
HP:0030669	Abnormal ocular adnexa morphology	10274	STAG1	ORPHA:502434
HP:0030669	Abnormal ocular adnexa morphology	85358	SHANK3	OMIM:606232
HP:0030669	Abnormal ocular adnexa morphology	85358	SHANK3	ORPHA:48652
HP:0030669	Abnormal ocular adnexa morphology	27125	AFF4	ORPHA:444077
HP:0030669	Abnormal ocular adnexa morphology	27125	AFF4	OMIM:616368
HP:0030669	Abnormal ocular adnexa morphology	55869	HDAC8	OMIM:300882
HP:0030669	Abnormal ocular adnexa morphology	55869	HDAC8	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	10847	SRCAP	OMIM:136140
HP:0030669	Abnormal ocular adnexa morphology	1436	CSF1R	OMIM:618476
HP:0030669	Abnormal ocular adnexa morphology	9578	CDC42BPB	OMIM:619841
HP:0030669	Abnormal ocular adnexa morphology	29998	BICRA	OMIM:619325
HP:0030669	Abnormal ocular adnexa morphology	80816	ASXL3	OMIM:615485
HP:0030669	Abnormal ocular adnexa morphology	6536	SLC6A9	OMIM:617301
HP:0030669	Abnormal ocular adnexa morphology	51506	UFC1	OMIM:618076
HP:0030669	Abnormal ocular adnexa morphology	9442	MED27	OMIM:619286
HP:0030669	Abnormal ocular adnexa morphology	65082	VPS33A	OMIM:617303
HP:0030669	Abnormal ocular adnexa morphology	65082	VPS33A	ORPHA:505248
HP:0030669	Abnormal ocular adnexa morphology	526	ATP6V1B2	OMIM:616455
HP:0030669	Abnormal ocular adnexa morphology	526	ATP6V1B2	ORPHA:3473
HP:0030669	Abnormal ocular adnexa morphology	55690	PACS1	OMIM:615009
HP:0030669	Abnormal ocular adnexa morphology	55690	PACS1	ORPHA:329224
HP:0030669	Abnormal ocular adnexa morphology	4081	MAB21L1	OMIM:618479
HP:0030669	Abnormal ocular adnexa morphology	2250	FGF5	OMIM:190330
HP:0030669	Abnormal ocular adnexa morphology	10908	PNPLA6	OMIM:275400
HP:0030669	Abnormal ocular adnexa morphology	3764	KCNJ8	ORPHA:1517
HP:0030669	Abnormal ocular adnexa morphology	10060	ABCC9	ORPHA:1517
HP:0030669	Abnormal ocular adnexa morphology	10060	ABCC9	OMIM:239850
HP:0030669	Abnormal ocular adnexa morphology	9126	SMC3	OMIM:610759
HP:0030669	Abnormal ocular adnexa morphology	9126	SMC3	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	55777	MBD5	OMIM:156200
HP:0030669	Abnormal ocular adnexa morphology	23221	RHOBTB2	OMIM:618004
HP:0030669	Abnormal ocular adnexa morphology	57492	ARID1B	OMIM:135900
HP:0030669	Abnormal ocular adnexa morphology	1956	EGFR	OMIM:616069
HP:0030669	Abnormal ocular adnexa morphology	6601	SMARCC2	OMIM:618362
HP:0030669	Abnormal ocular adnexa morphology	4052	LTBP1	OMIM:619451
HP:0030669	Abnormal ocular adnexa morphology	8260	NAA10	OMIM:300855
HP:0030669	Abnormal ocular adnexa morphology	80204	FBXO11	OMIM:618089
HP:0030669	Abnormal ocular adnexa morphology	5119	CHMP1A	OMIM:614961
HP:0030669	Abnormal ocular adnexa morphology	55603	TENT5A	OMIM:617952
HP:0030669	Abnormal ocular adnexa morphology	4853	NOTCH2	OMIM:102500
HP:0030669	Abnormal ocular adnexa morphology	8289	ARID1A	OMIM:614607
HP:0030669	Abnormal ocular adnexa morphology	2200	FBN1	ORPHA:969
HP:0030669	Abnormal ocular adnexa morphology	2200	FBN1	OMIM:102370
HP:0030669	Abnormal ocular adnexa morphology	4054	LTBP3	ORPHA:969
HP:0030669	Abnormal ocular adnexa morphology	6598	SMARCB1	OMIM:614608
HP:0030669	Abnormal ocular adnexa morphology	6597	SMARCA4	OMIM:614609
HP:0030669	Abnormal ocular adnexa morphology	9377	COX5A	OMIM:619064
HP:0030669	Abnormal ocular adnexa morphology	6045	RNF2	OMIM:619460
HP:0030669	Abnormal ocular adnexa morphology	6872	TAF1	ORPHA:480907
HP:0030669	Abnormal ocular adnexa morphology	23258	DENND5A	OMIM:617281
HP:0030669	Abnormal ocular adnexa morphology	9496	TBX4	ORPHA:261279
HP:0030669	Abnormal ocular adnexa morphology	1105	CHD1	OMIM:617682
HP:0030669	Abnormal ocular adnexa morphology	22872	SEC31A	OMIM:618651
HP:0030669	Abnormal ocular adnexa morphology	283987	HID1	OMIM:619983
HP:0030669	Abnormal ocular adnexa morphology	23314	SATB2	OMIM:612313
HP:0030669	Abnormal ocular adnexa morphology	3782	KCNN3	OMIM:618658
HP:0030669	Abnormal ocular adnexa morphology	3782	KCNN3	ORPHA:3473
HP:0030669	Abnormal ocular adnexa morphology	3756	KCNH1	ORPHA:3473
HP:0030669	Abnormal ocular adnexa morphology	3756	KCNH1	ORPHA:420561
HP:0030669	Abnormal ocular adnexa morphology	4247	MGAT2	OMIM:212066
HP:0030669	Abnormal ocular adnexa morphology	4247	MGAT2	ORPHA:79329
HP:0030669	Abnormal ocular adnexa morphology	23476	BRD4	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	25836	NIPBL	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	25836	NIPBL	OMIM:122470
HP:0030669	Abnormal ocular adnexa morphology	5885	RAD21	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	50801	KCNK4	OMIM:618381
HP:0030669	Abnormal ocular adnexa morphology	10664	CTCF	ORPHA:363611
HP:0030669	Abnormal ocular adnexa morphology	10664	CTCF	OMIM:615502
HP:0030669	Abnormal ocular adnexa morphology	57003	CCDC47	OMIM:618268
HP:0030669	Abnormal ocular adnexa morphology	157680	VPS13B	ORPHA:193
HP:0030669	Abnormal ocular adnexa morphology	9150	CTDP1	ORPHA:48431
HP:0030669	Abnormal ocular adnexa morphology	149371	EXOC8	OMIM:619076
HP:0030669	Abnormal ocular adnexa morphology	92609	TIMM50	OMIM:617698
HP:0030669	Abnormal ocular adnexa morphology	85440	DOCK7	ORPHA:411986
HP:0030669	Abnormal ocular adnexa morphology	85440	DOCK7	OMIM:615859
HP:0030669	Abnormal ocular adnexa morphology	54499	TMCO1	OMIM:213980
HP:0030669	Abnormal ocular adnexa morphology	283209	PGM2L1	OMIM:620191
HP:0030669	Abnormal ocular adnexa morphology	4094	MAF	ORPHA:1272
HP:0030669	Abnormal ocular adnexa morphology	374879	ZNF699	OMIM:619488
HP:0030669	Abnormal ocular adnexa morphology	51305	KCNK9	OMIM:612292
HP:0030669	Abnormal ocular adnexa morphology	1806	DPYD	ORPHA:1675
HP:0030669	Abnormal ocular adnexa morphology	23261	CAMTA1	OMIM:614756
HP:0030669	Abnormal ocular adnexa morphology	6605	SMARCE1	OMIM:616938
HP:0030669	Abnormal ocular adnexa morphology	55343	SLC35C1	ORPHA:99843
HP:0030669	Abnormal ocular adnexa morphology	55691	FRMD4A	OMIM:616819
HP:0030669	Abnormal ocular adnexa morphology	55691	FRMD4A	ORPHA:466688
HP:0030669	Abnormal ocular adnexa morphology	5495	PPM1B	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	6519	SLC3A1	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	9581	PREPL	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	79823	CAMKMT	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	55252	ASXL2	OMIM:617190
HP:0030669	Abnormal ocular adnexa morphology	10463	SLC30A9	OMIM:617595
HP:0030669	Abnormal ocular adnexa morphology	738	VPS51	OMIM:618606
HP:0030669	Abnormal ocular adnexa morphology	4848	CNOT2	OMIM:618608
HP:0030669	Abnormal ocular adnexa morphology	84842	HPDL	OMIM:619026
HP:0030669	Abnormal ocular adnexa morphology	5881	RAC3	OMIM:618577
HP:0030669	Abnormal ocular adnexa morphology	9181	ARHGEF2	OMIM:617523
HP:0030669	Abnormal ocular adnexa morphology	6878	TAF6	OMIM:617126
HP:0030669	Abnormal ocular adnexa morphology	7407	VARS1	OMIM:617802
HP:0030669	Abnormal ocular adnexa morphology	64132	XYLT2	ORPHA:85194
HP:0030669	Abnormal ocular adnexa morphology	10736	SIX2	ORPHA:488437
HP:0030669	Abnormal ocular adnexa morphology	4035	LRP1	OMIM:604093
HP:0030669	Abnormal ocular adnexa morphology	3229	HOXC13	OMIM:614931
HP:0030669	Abnormal ocular adnexa morphology	10651	MTX2	ORPHA:90153
HP:0030669	Abnormal ocular adnexa morphology	9131	AIFM1	OMIM:300232
HP:0030669	Abnormal ocular adnexa morphology	9820	CUL7	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	9820	CUL7	OMIM:273750
HP:0030669	Abnormal ocular adnexa morphology	23363	OBSL1	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	83987	CCDC8	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	10479	SLC9A6	OMIM:300243
HP:0030669	Abnormal ocular adnexa morphology	10479	SLC9A6	ORPHA:85278
HP:0030669	Abnormal ocular adnexa morphology	10015	PDCD6IP	OMIM:620047
HP:0030669	Abnormal ocular adnexa morphology	55280	CWF19L1	OMIM:616127
HP:0030669	Abnormal ocular adnexa morphology	5593	PRKG2	OMIM:619636
HP:0030669	Abnormal ocular adnexa morphology	285362	SUMF1	ORPHA:585
HP:0030669	Abnormal ocular adnexa morphology	5700	PSMC1	OMIM:620071
HP:0030669	Abnormal ocular adnexa morphology	81887	LAS1L	ORPHA:3459
HP:0030669	Abnormal ocular adnexa morphology	81887	LAS1L	OMIM:309585
HP:0030669	Abnormal ocular adnexa morphology	11160	ERLIN2	ORPHA:280384
HP:0030669	Abnormal ocular adnexa morphology	11160	ERLIN2	ORPHA:209951
HP:0030669	Abnormal ocular adnexa morphology	8091	HMGA2	ORPHA:94063
HP:0030669	Abnormal ocular adnexa morphology	54361	WNT4	ORPHA:247768
HP:0030669	Abnormal ocular adnexa morphology	50937	CDON	OMIM:614226
HP:0030669	Abnormal ocular adnexa morphology	3425	IDUA	ORPHA:93473
HP:0030669	Abnormal ocular adnexa morphology	2131	EXT1	ORPHA:502
HP:0030669	Abnormal ocular adnexa morphology	2799	GNS	OMIM:252940
HP:0030669	Abnormal ocular adnexa morphology	2990	GUSB	OMIM:253220
HP:0030669	Abnormal ocular adnexa morphology	55331	ACER3	OMIM:617762
HP:0030669	Abnormal ocular adnexa morphology	3166	HMX1	OMIM:612109
HP:0030669	Abnormal ocular adnexa morphology	199857	ALG14	OMIM:619036
HP:0030669	Abnormal ocular adnexa morphology	64220	STRA6	OMIM:601186
HP:0030669	Abnormal ocular adnexa morphology	6608	SMO	OMIM:601707
HP:0030669	Abnormal ocular adnexa morphology	27238	GPKOW	ORPHA:2570
HP:0030669	Abnormal ocular adnexa morphology	91179	SCARF2	OMIM:600920
HP:0030669	Abnormal ocular adnexa morphology	29895	MYL11	OMIM:619110
HP:0030669	Abnormal ocular adnexa morphology	22931	RAB18	OMIM:614222
HP:0030669	Abnormal ocular adnexa morphology	5557	PRIM1	OMIM:620005
HP:0030669	Abnormal ocular adnexa morphology	104	ADARB1	OMIM:618862
HP:0030669	Abnormal ocular adnexa morphology	7109	TRAPPC10	OMIM:620027
HP:0030669	Abnormal ocular adnexa morphology	7109	TRAPPC10	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	4774	NFIA	OMIM:613735
HP:0030669	Abnormal ocular adnexa morphology	197131	UBR1	OMIM:243800
HP:0030669	Abnormal ocular adnexa morphology	2314	FLII	ORPHA:819
HP:0030669	Abnormal ocular adnexa morphology	23096	IQSEC2	ORPHA:819
HP:0030669	Abnormal ocular adnexa morphology	5191	PEX7	OMIM:215100
HP:0030669	Abnormal ocular adnexa morphology	55697	VAC14	ORPHA:3472
HP:0030669	Abnormal ocular adnexa morphology	26057	ANKRD17	OMIM:619504
HP:0030669	Abnormal ocular adnexa morphology	1174	AP1S1	OMIM:609313
HP:0030669	Abnormal ocular adnexa morphology	3043	HBB	ORPHA:231214
HP:0030669	Abnormal ocular adnexa morphology	3043	HBB	ORPHA:231226
HP:0030669	Abnormal ocular adnexa morphology	84879	MFSD2A	OMIM:616486
HP:0030669	Abnormal ocular adnexa morphology	84879	MFSD2A	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	5063	PAK3	OMIM:300558
HP:0030669	Abnormal ocular adnexa morphology	116115	ZNF526	OMIM:619877
HP:0030669	Abnormal ocular adnexa morphology	8364	H4C3	OMIM:619758
HP:0030669	Abnormal ocular adnexa morphology	55210	ATAD3A	ORPHA:496790
HP:0030669	Abnormal ocular adnexa morphology	55210	ATAD3A	OMIM:617183
HP:0030669	Abnormal ocular adnexa morphology	4849	CNOT3	OMIM:618672
HP:0030669	Abnormal ocular adnexa morphology	182	JAG1	OMIM:118450
HP:0030669	Abnormal ocular adnexa morphology	4208	MEF2C	ORPHA:228384
HP:0030669	Abnormal ocular adnexa morphology	4208	MEF2C	OMIM:613443
HP:0030669	Abnormal ocular adnexa morphology	4677	NARS1	OMIM:619092
HP:0030669	Abnormal ocular adnexa morphology	8242	KDM5C	OMIM:300534
HP:0030669	Abnormal ocular adnexa morphology	79989	IFT56	OMIM:619534
HP:0030669	Abnormal ocular adnexa morphology	7546	ZIC2	OMIM:609637
HP:0030669	Abnormal ocular adnexa morphology	7319	UBE2A	ORPHA:163956
HP:0030669	Abnormal ocular adnexa morphology	7319	UBE2A	OMIM:300860
HP:0030669	Abnormal ocular adnexa morphology	55770	EXOC2	OMIM:619306
HP:0030669	Abnormal ocular adnexa morphology	9230	RAB11B	OMIM:617807
HP:0030669	Abnormal ocular adnexa morphology	55081	IFT57	OMIM:617927
HP:0030669	Abnormal ocular adnexa morphology	9488	PIGB	OMIM:618580
HP:0030669	Abnormal ocular adnexa morphology	1859	DYRK1A	ORPHA:268261
HP:0030669	Abnormal ocular adnexa morphology	7681	MKRN3	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	3653	IPW	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	791114	PWRN1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	100033413	SNORD116-1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	8924	HERC2	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	145624	PWAR1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	23742	NPAP1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	338433	SNORD115-1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	6492	SIM1	ORPHA:171829
HP:0030669	Abnormal ocular adnexa morphology	84162	BLTP1	OMIM:617822
HP:0030669	Abnormal ocular adnexa morphology	55784	MCTP2	ORPHA:1596
HP:0030669	Abnormal ocular adnexa morphology	3097	HIVEP2	OMIM:616977
HP:0030669	Abnormal ocular adnexa morphology	4952	OCRL	ORPHA:534
HP:0030669	Abnormal ocular adnexa morphology	6904	TBCD	ORPHA:496641
HP:0030669	Abnormal ocular adnexa morphology	6904	TBCD	OMIM:617193
HP:0030669	Abnormal ocular adnexa morphology	1741	DLG3	OMIM:300850
HP:0030669	Abnormal ocular adnexa morphology	51116	MRPS2	OMIM:617950
HP:0030669	Abnormal ocular adnexa morphology	55906	ZC4H2	OMIM:314580
HP:0030669	Abnormal ocular adnexa morphology	9241	NOG	OMIM:186500
HP:0030669	Abnormal ocular adnexa morphology	1781	DYNC1I2	OMIM:618492
HP:0030669	Abnormal ocular adnexa morphology	9451	EIF2AK3	OMIM:226980
HP:0030669	Abnormal ocular adnexa morphology	5277	PIGA	OMIM:300868
HP:0030669	Abnormal ocular adnexa morphology	6638	SNRPN	ORPHA:177907
HP:0030669	Abnormal ocular adnexa morphology	10771	ZMYND11	OMIM:616083
HP:0030669	Abnormal ocular adnexa morphology	6611	SMS	ORPHA:3063
HP:0030669	Abnormal ocular adnexa morphology	11212	PLPBP	OMIM:617290
HP:0030669	Abnormal ocular adnexa morphology	84265	POLR3GL	OMIM:619234
HP:0030669	Abnormal ocular adnexa morphology	51604	PIGT	ORPHA:369837
HP:0030669	Abnormal ocular adnexa morphology	1861	TOR1A	OMIM:618947
HP:0030669	Abnormal ocular adnexa morphology	9894	TELO2	ORPHA:488642
HP:0030669	Abnormal ocular adnexa morphology	25914	RTTN	ORPHA:468631
HP:0030669	Abnormal ocular adnexa morphology	8936	WASF1	OMIM:618707
HP:0030669	Abnormal ocular adnexa morphology	63932	STEEP1	OMIM:301013
HP:0030669	Abnormal ocular adnexa morphology	54870	QRICH1	OMIM:617982
HP:0030669	Abnormal ocular adnexa morphology	90416	CCDC32	OMIM:619123
HP:0030669	Abnormal ocular adnexa morphology	6911	TBX6	ORPHA:1797
HP:0030669	Abnormal ocular adnexa morphology	10551	AGR2	OMIM:620233
HP:0030669	Abnormal ocular adnexa morphology	1315	COPB1	OMIM:619255
HP:0030669	Abnormal ocular adnexa morphology	4724	NDUFS4	OMIM:252010
HP:0030669	Abnormal ocular adnexa morphology	9276	COPB2	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	11113	CIT	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	9928	KIF14	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	284403	WDR62	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	55262	TRAPPC14	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	163786	SASS6	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	4176	MCM7	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	80254	CEP63	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	29081	METTL5	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	23310	NCAPD3	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	55755	CDK5RAP2	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	79648	MCPH1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	6491	STIL	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	1911	PHC1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	6884	TAF13	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	9662	CEP135	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	57082	KNL1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	1021	CDK6	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	23133	PHF8	OMIM:300263
HP:0030669	Abnormal ocular adnexa morphology	11141	IL1RAPL1	OMIM:300143
HP:0030669	Abnormal ocular adnexa morphology	10844	TUBGCP2	OMIM:618737
HP:0030669	Abnormal ocular adnexa morphology	2138	EYA1	ORPHA:52429
HP:0030669	Abnormal ocular adnexa morphology	6495	SIX1	ORPHA:52429
HP:0030669	Abnormal ocular adnexa morphology	51360	MBTPS2	ORPHA:2273
HP:0030669	Abnormal ocular adnexa morphology	330	BIRC3	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	10892	MALT1	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	27086	FOXP1	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	3492	IGH	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	8915	BCL10	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	3832	KIF11	ORPHA:2526
HP:0030669	Abnormal ocular adnexa morphology	9791	PTDSS1	ORPHA:2658
HP:0030669	Abnormal ocular adnexa morphology	2263	FGFR2	OMIM:101400
HP:0030669	Abnormal ocular adnexa morphology	2260	FGFR1	ORPHA:2396
HP:0030669	Abnormal ocular adnexa morphology	5189	PEX1	ORPHA:3220
HP:0030669	Abnormal ocular adnexa morphology	54539	NDUFB11	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	1349	COX7B	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	3052	HCCS	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	23592	LEMD3	ORPHA:166119
HP:0030669	Abnormal ocular adnexa morphology	523	ATP6V1A	OMIM:617403
HP:0030669	Abnormal ocular adnexa morphology	529	ATP6V1E1	OMIM:617402
HP:0030669	Abnormal ocular adnexa morphology	51053	GMNN	OMIM:616835
HP:0030669	Abnormal ocular adnexa morphology	11128	POLR3A	OMIM:264090
HP:0030669	Abnormal ocular adnexa morphology	11128	POLR3A	ORPHA:3455
HP:0030669	Abnormal ocular adnexa morphology	6154	RPL26	OMIM:614900
HP:0030669	Abnormal ocular adnexa morphology	157570	ESCO2	OMIM:268300
HP:0030669	Abnormal ocular adnexa morphology	1723	DHODH	ORPHA:246
HP:0030669	Abnormal ocular adnexa morphology	1723	DHODH	OMIM:263750
HP:0030669	Abnormal ocular adnexa morphology	84172	POLR1B	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	9533	POLR1C	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	51082	POLR1D	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	54101	RIPK4	ORPHA:1234
HP:0030669	Abnormal ocular adnexa morphology	10535	RNASEH2A	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	84153	RNASEH2C	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	25939	SAMHD1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	79621	RNASEH2B	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	103	ADAR	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	11277	TREX1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	100147744	RNU7-1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	134353	LSM11	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	64135	IFIH1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	2313	FLI1	ORPHA:2308
HP:0030669	Abnormal ocular adnexa morphology	55636	CHD7	ORPHA:138
HP:0030669	Abnormal ocular adnexa morphology	9723	SEMA3E	ORPHA:138
HP:0030669	Abnormal ocular adnexa morphology	8092	ALX1	OMIM:613456
HP:0030669	Abnormal ocular adnexa morphology	158326	FREM1	ORPHA:2717
HP:0030669	Abnormal ocular adnexa morphology	7291	TWIST1	OMIM:617746
HP:0030669	Abnormal ocular adnexa morphology	1009	CDH11	OMIM:619736
HP:0030669	Abnormal ocular adnexa morphology	10992	SF3B2	OMIM:164210
HP:0030669	Abnormal ocular adnexa morphology	80144	FRAS1	OMIM:219000
HP:0030669	Abnormal ocular adnexa morphology	6949	TCOF1	OMIM:154500
HP:0030669	Abnormal ocular adnexa morphology	60	ACTB	OMIM:243310
HP:0030669	Abnormal ocular adnexa morphology	60	ACTB	ORPHA:2995
HP:0030669	Abnormal ocular adnexa morphology	699	BUB1	OMIM:620183
HP:0030669	Abnormal ocular adnexa morphology	23013	SPEN	OMIM:619312
HP:0030669	Abnormal ocular adnexa morphology	8812	CCNK	OMIM:618147
HP:0030669	Abnormal ocular adnexa morphology	9759	HDAC4	OMIM:619797
HP:0030669	Abnormal ocular adnexa morphology	71	ACTG1	OMIM:614583
HP:0030669	Abnormal ocular adnexa morphology	71	ACTG1	ORPHA:2995
HP:0030669	Abnormal ocular adnexa morphology	10526	IPO8	OMIM:619472
HP:0030669	Abnormal ocular adnexa morphology	9158	FIBP	ORPHA:500095
HP:0030669	Abnormal ocular adnexa morphology	9158	FIBP	OMIM:617107
HP:0030669	Abnormal ocular adnexa morphology	6711	SPTBN1	OMIM:619475
HP:0030669	Abnormal ocular adnexa morphology	51633	OTUD6B	OMIM:617452
HP:0030669	Abnormal ocular adnexa morphology	51633	OTUD6B	ORPHA:505237
HP:0030669	Abnormal ocular adnexa morphology	1857	DVL3	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	7474	WNT5A	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	7474	WNT5A	OMIM:180700
HP:0030669	Abnormal ocular adnexa morphology	1855	DVL1	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	1855	DVL1	OMIM:180700
HP:0030669	Abnormal ocular adnexa morphology	2535	FZD2	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	29123	ANKRD11	ORPHA:2332
HP:0030669	Abnormal ocular adnexa morphology	29123	ANKRD11	OMIM:148050
HP:0030669	Abnormal ocular adnexa morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0030669	Abnormal ocular adnexa morphology	100151683	RNU4ATAC	OMIM:616651
HP:0030669	Abnormal ocular adnexa morphology	84720	PIGO	OMIM:614749
HP:0030669	Abnormal ocular adnexa morphology	84720	PIGO	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	8405	SPOP	OMIM:618829
HP:0030669	Abnormal ocular adnexa morphology	3190	HNRNPK	ORPHA:453504
HP:0030669	Abnormal ocular adnexa morphology	3190	HNRNPK	OMIM:616580
HP:0030669	Abnormal ocular adnexa morphology	3190	HNRNPK	ORPHA:352665
HP:0030669	Abnormal ocular adnexa morphology	51611	DPH5	OMIM:620070
HP:0030669	Abnormal ocular adnexa morphology	57459	GATAD2B	ORPHA:363686
HP:0030669	Abnormal ocular adnexa morphology	3636	INPPL1	OMIM:258480
HP:0030669	Abnormal ocular adnexa morphology	10978	CLP1	ORPHA:411493
HP:0030669	Abnormal ocular adnexa morphology	10978	CLP1	OMIM:615803
HP:0030669	Abnormal ocular adnexa morphology	1759	DNM1	OMIM:620352
HP:0030669	Abnormal ocular adnexa morphology	55650	PIGV	OMIM:239300
HP:0030669	Abnormal ocular adnexa morphology	55650	PIGV	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	4920	ROR2	OMIM:268310
HP:0030669	Abnormal ocular adnexa morphology	4920	ROR2	ORPHA:1507
HP:0030669	Abnormal ocular adnexa morphology	5296	PIK3R2	OMIM:603387
HP:0030669	Abnormal ocular adnexa morphology	84992	PIGY	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	93210	PGAP3	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	284098	PIGW	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	27315	PGAP2	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	27315	PGAP2	OMIM:614207
HP:0030669	Abnormal ocular adnexa morphology	9487	PIGL	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	4001	LMNB1	OMIM:619179
HP:0030669	Abnormal ocular adnexa morphology	818	CAMK2G	OMIM:618522
HP:0030669	Abnormal ocular adnexa morphology	5879	RAC1	OMIM:617751
HP:0030669	Abnormal ocular adnexa morphology	24140	FTSJ1	OMIM:309549
HP:0030669	Abnormal ocular adnexa morphology	92255	LMBRD2	OMIM:619694
HP:0030669	Abnormal ocular adnexa morphology	1984	EIF5A	OMIM:619376
HP:0030669	Abnormal ocular adnexa morphology	8120	AP3B2	OMIM:617276
HP:0030669	Abnormal ocular adnexa morphology	57479	PRR12	OMIM:619539
HP:0030669	Abnormal ocular adnexa morphology	79718	TBL1XR1	OMIM:616944
HP:0030669	Abnormal ocular adnexa morphology	5604	MAP2K1	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	5605	MAP2K2	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	673	BRAF	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	64359	NXN	ORPHA:1507
HP:0030669	Abnormal ocular adnexa morphology	7043	TGFB3	OMIM:615582
HP:0030669	Abnormal ocular adnexa morphology	7403	KDM6A	OMIM:300867
HP:0030669	Abnormal ocular adnexa morphology	7403	KDM6A	OMIM:147920
HP:0030669	Abnormal ocular adnexa morphology	1523	CUX1	OMIM:618330
HP:0030669	Abnormal ocular adnexa morphology	5144	PDE4D	ORPHA:439822
HP:0030669	Abnormal ocular adnexa morphology	5813	PURA	ORPHA:438216
HP:0030669	Abnormal ocular adnexa morphology	5813	PURA	OMIM:616158
HP:0030669	Abnormal ocular adnexa morphology	170302	ARX	OMIM:300419
HP:0030669	Abnormal ocular adnexa morphology	649	BMP1	OMIM:614856
HP:0030669	Abnormal ocular adnexa morphology	2783	GNB2	OMIM:619503
HP:0030669	Abnormal ocular adnexa morphology	27445	PCLO	OMIM:608027
HP:0030669	Abnormal ocular adnexa morphology	8085	KMT2D	OMIM:147920
HP:0030669	Abnormal ocular adnexa morphology	81607	NECTIN4	OMIM:613573
HP:0030669	Abnormal ocular adnexa morphology	1909	EDNRA	OMIM:616367
HP:0030669	Abnormal ocular adnexa morphology	641	BLM	ORPHA:125
HP:0030669	Abnormal ocular adnexa morphology	5339	PLEC	OMIM:226730
HP:0030669	Abnormal ocular adnexa morphology	3691	ITGB4	OMIM:226730
HP:0030669	Abnormal ocular adnexa morphology	3691	ITGB4	ORPHA:79403
HP:0030669	Abnormal ocular adnexa morphology	2629	GBA1	ORPHA:85212
HP:0030669	Abnormal ocular adnexa morphology	79092	CARD14	OMIM:173200
HP:0030669	Abnormal ocular adnexa morphology	51099	ABHD5	OMIM:275630
HP:0030669	Abnormal ocular adnexa morphology	51099	ABHD5	ORPHA:98907
HP:0030669	Abnormal ocular adnexa morphology	3655	ITGA6	ORPHA:79403
HP:0030669	Abnormal ocular adnexa morphology	204219	CERS3	OMIM:615023
HP:0030669	Abnormal ocular adnexa morphology	204219	CERS3	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	285848	PNPLA1	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	1906	EDN1	OMIM:615706
HP:0030669	Abnormal ocular adnexa morphology	7552	ZNF711	OMIM:300803
HP:0030669	Abnormal ocular adnexa morphology	318	NUDT2	OMIM:619844
HP:0030669	Abnormal ocular adnexa morphology	55870	ASH1L	OMIM:617796
HP:0030669	Abnormal ocular adnexa morphology	6509	SLC1A4	ORPHA:447997
HP:0030669	Abnormal ocular adnexa morphology	81603	TRIM8	OMIM:619428
HP:0030669	Abnormal ocular adnexa morphology	6888	TALDO1	OMIM:606003
HP:0030669	Abnormal ocular adnexa morphology	6448	SGSH	OMIM:252900
HP:0030669	Abnormal ocular adnexa morphology	8473	OGT	OMIM:300997
HP:0030669	Abnormal ocular adnexa morphology	6792	CDKL5	ORPHA:505652
HP:0030669	Abnormal ocular adnexa morphology	80185	TTI2	OMIM:615541
HP:0030669	Abnormal ocular adnexa morphology	80185	TTI2	ORPHA:391307
HP:0030669	Abnormal ocular adnexa morphology	5702	PSMC3	OMIM:619354
HP:0030669	Abnormal ocular adnexa morphology	138050	HGSNAT	OMIM:252930
HP:0030669	Abnormal ocular adnexa morphology	64802	NMNAT1	OMIM:619260
HP:0030669	Abnormal ocular adnexa morphology	284361	EMC10	OMIM:619264
HP:0030669	Abnormal ocular adnexa morphology	4669	NAGLU	OMIM:252920
HP:0030669	Abnormal ocular adnexa morphology	6720	SREBF1	OMIM:158310
HP:0030669	Abnormal ocular adnexa morphology	3141	HLCS	ORPHA:79242
HP:0030669	Abnormal ocular adnexa morphology	326	AIRE	OMIM:240300
HP:0030669	Abnormal ocular adnexa morphology	6335	SCN9A	OMIM:133020
HP:0030669	Abnormal ocular adnexa morphology	55699	IARS2	OMIM:616007
HP:0030669	Abnormal ocular adnexa morphology	1308	COL17A1	ORPHA:293381
HP:0030669	Abnormal ocular adnexa morphology	4547	MTTP	ORPHA:14
HP:0030669	Abnormal ocular adnexa morphology	22861	NLRP1	OMIM:617388
HP:0030669	Abnormal ocular adnexa morphology	64127	NOD2	OMIM:617321
HP:0030669	Abnormal ocular adnexa morphology	3930	LBR	ORPHA:779
HP:0030669	Abnormal ocular adnexa morphology	165	AEBP1	ORPHA:536532
HP:0030669	Abnormal ocular adnexa morphology	149233	IL23R	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	6775	STAT4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3586	IL10	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	4210	MEFV	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	1230	CCR1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3592	IL12A	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	101928376	IL12A-AS1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	7099	TLR4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3459	IFNGR1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	720	C4A	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	337867	UBAC2	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	51752	ERAP1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	8302	KLRC4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	255738	PCSK9	OMIM:603776
HP:0030669	Abnormal ocular adnexa morphology	5159	PDGFRB	OMIM:616592
HP:0030669	Abnormal ocular adnexa morphology	338	APOB	OMIM:144010
HP:0030669	Abnormal ocular adnexa morphology	336	APOA2	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2053	EPHX2	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	10842	PPP1R17	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2690	GHR	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	3949	LDLR	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2538	G6PC1	OMIM:232200
HP:0030669	Abnormal ocular adnexa morphology	1593	CYP27A1	OMIM:213700
HP:0030669	Abnormal ocular adnexa morphology	4023	LPL	OMIM:144250
HP:0030669	Abnormal ocular adnexa morphology	7274	TTPA	OMIM:277460
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	OMIM:232220
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	OMIM:232240
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	ORPHA:79259
HP:0030669	Abnormal ocular adnexa morphology	64241	ABCG8	OMIM:210250
HP:0030669	Abnormal ocular adnexa morphology	335	APOA1	ORPHA:425
HP:0030669	Abnormal ocular adnexa morphology	19	ABCA1	ORPHA:425
HP:0030669	Abnormal ocular adnexa morphology	54892	NCAPG2	OMIM:618460
HP:0030669	Abnormal ocular adnexa morphology	207	AKT1	OMIM:176920
HP:0030669	Abnormal ocular adnexa morphology	6299	SALL1	ORPHA:857
HP:0030669	Abnormal ocular adnexa morphology	51339	DACT1	ORPHA:857
HP:0030669	Abnormal ocular adnexa morphology	347733	TUBB2B	OMIM:610031
HP:0030669	Abnormal ocular adnexa morphology	401	PHOX2A	OMIM:602078
HP:0030669	Abnormal ocular adnexa morphology	55605	KIF21A	OMIM:135700
HP:0030669	Abnormal ocular adnexa morphology	5317	PKP1	OMIM:604536
HP:0030669	Abnormal ocular adnexa morphology	4953	ODC1	OMIM:619075
HP:0030669	Abnormal ocular adnexa morphology	4953	ODC1	ORPHA:544488
HP:0030669	Abnormal ocular adnexa morphology	8313	AXIN2	OMIM:608615
HP:0030669	Abnormal ocular adnexa morphology	1832	DSP	ORPHA:158687
HP:0030669	Abnormal ocular adnexa morphology	3728	JUP	ORPHA:158687
HP:0030669	Abnormal ocular adnexa morphology	128178	EDARADD	OMIM:614941
HP:0030669	Abnormal ocular adnexa morphology	64682	ANAPC1	OMIM:618625
HP:0030669	Abnormal ocular adnexa morphology	3891	KRT85	OMIM:602032
HP:0030669	Abnormal ocular adnexa morphology	55806	HR	ORPHA:701
HP:0030669	Abnormal ocular adnexa morphology	55806	HR	OMIM:203655
HP:0030669	Abnormal ocular adnexa morphology	10283	CWC27	ORPHA:166035
HP:0030669	Abnormal ocular adnexa morphology	84946	LTV1	OMIM:620199
HP:0030669	Abnormal ocular adnexa morphology	1896	EDA	OMIM:305100
HP:0030669	Abnormal ocular adnexa morphology	5297	PI4KA	ORPHA:436252
HP:0030669	Abnormal ocular adnexa morphology	57217	TTC7A	ORPHA:436252
HP:0030669	Abnormal ocular adnexa morphology	1001	CDH3	ORPHA:1897
HP:0030669	Abnormal ocular adnexa morphology	79083	MLPH	OMIM:609227
HP:0030669	Abnormal ocular adnexa morphology	4157	MC1R	ORPHA:79432
HP:0030669	Abnormal ocular adnexa morphology	4948	OCA2	ORPHA:79432
HP:0030669	Abnormal ocular adnexa morphology	7306	TYRP1	ORPHA:79433
HP:0030669	Abnormal ocular adnexa morphology	3815	KIT	ORPHA:2884
HP:0030669	Abnormal ocular adnexa morphology	4644	MYO5A	OMIM:214450
HP:0030669	Abnormal ocular adnexa morphology	10128	LRPPRC	OMIM:220111
HP:0030669	Abnormal ocular adnexa morphology	8294	H4C9	OMIM:619951
HP:0030669	Abnormal ocular adnexa morphology	50651	SLC45A1	OMIM:617532
HP:0030669	Abnormal ocular adnexa morphology	23334	SZT2	OMIM:615476
HP:0030669	Abnormal ocular adnexa morphology	7021	TFAP2B	OMIM:169100
HP:0030669	Abnormal ocular adnexa morphology	55209	SETD5	ORPHA:404440
HP:0030669	Abnormal ocular adnexa morphology	613	BCR	ORPHA:261330
HP:0030669	Abnormal ocular adnexa morphology	1399	CRKL	ORPHA:261330
HP:0030669	Abnormal ocular adnexa morphology	23322	RPGRIP1L	ORPHA:220497
HP:0030669	Abnormal ocular adnexa morphology	23322	RPGRIP1L	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	153241	CEP120	ORPHA:220493
HP:0030669	Abnormal ocular adnexa morphology	153241	CEP120	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	95681	CEP41	ORPHA:220493
HP:0030669	Abnormal ocular adnexa morphology	95681	CEP41	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	80055	PGAP1	OMIM:615802
HP:0030669	Abnormal ocular adnexa morphology	23384	SPECC1L	ORPHA:1519
HP:0030669	Abnormal ocular adnexa morphology	23384	SPECC1L	OMIM:145420
HP:0030669	Abnormal ocular adnexa morphology	5818	NECTIN1	ORPHA:3253
HP:0030669	Abnormal ocular adnexa morphology	1185	CLCN6	OMIM:619173
HP:0030669	Abnormal ocular adnexa morphology	9469	CHST3	OMIM:143095
HP:0030669	Abnormal ocular adnexa morphology	9469	CHST3	ORPHA:263463
HP:0030669	Abnormal ocular adnexa morphology	23184	MESD	OMIM:618644
HP:0030669	Abnormal ocular adnexa morphology	23325	WASHC4	OMIM:615817
HP:0030669	Abnormal ocular adnexa morphology	4330	MN1	OMIM:618774
HP:0030669	Abnormal ocular adnexa morphology	4212	MEIS2	OMIM:600987
HP:0030669	Abnormal ocular adnexa morphology	79600	TCTN1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	91147	TMEM67	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	91147	TMEM67	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	200894	ARL13B	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	9731	CEP104	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	219844	HYLS1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	23247	KATNIP	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	219854	TMEM218	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	79867	TCTN2	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	10464	PIBF1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	80210	ARMC9	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	23116	TOGARAM1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	25776	CBY1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	27077	B9D1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	5792	PTPRF	OMIM:616001
HP:0030669	Abnormal ocular adnexa morphology	8363	H4C11	OMIM:619759
HP:0030669	Abnormal ocular adnexa morphology	9772	TMEM94	OMIM:618316
HP:0030669	Abnormal ocular adnexa morphology	3187	HNRNPH1	OMIM:620083
HP:0030669	Abnormal ocular adnexa morphology	4123	MAN2C1	OMIM:619775
HP:0030669	Abnormal ocular adnexa morphology	23483	TGDS	ORPHA:1388
HP:0030669	Abnormal ocular adnexa morphology	79791	FBXO31	OMIM:615979
HP:0030669	Abnormal ocular adnexa morphology	22856	CHSY1	OMIM:605282
HP:0030669	Abnormal ocular adnexa morphology	9427	ECEL1	OMIM:615065
HP:0030669	Abnormal ocular adnexa morphology	84188	FAR1	OMIM:616154
HP:0030669	Abnormal ocular adnexa morphology	84188	FAR1	ORPHA:438178
HP:0030669	Abnormal ocular adnexa morphology	92335	STRADA	ORPHA:500533
HP:0030669	Abnormal ocular adnexa morphology	79813	EHMT1	ORPHA:96147
HP:0030669	Abnormal ocular adnexa morphology	23028	KDM1A	OMIM:616728
HP:0030669	Abnormal ocular adnexa morphology	3313	HSPA9	OMIM:616854
HP:0030669	Abnormal ocular adnexa morphology	998	CDC42	OMIM:616737
HP:0030669	Abnormal ocular adnexa morphology	998	CDC42	ORPHA:487796
HP:0030669	Abnormal ocular adnexa morphology	56975	FAM20C	OMIM:259775
HP:0030669	Abnormal ocular adnexa morphology	26999	CYFIP2	OMIM:618008
HP:0030669	Abnormal ocular adnexa morphology	79583	TMEM231	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	51524	TMEM138	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	23090	ZNF423	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	57545	CC2D2A	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	57545	CC2D2A	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	348180	CTU2	OMIM:618142
HP:0030669	Abnormal ocular adnexa morphology	94005	PIGS	OMIM:618143
HP:0030669	Abnormal ocular adnexa morphology	2571	GAD1	OMIM:619124
HP:0030669	Abnormal ocular adnexa morphology	6472	SHMT2	OMIM:619121
HP:0030669	Abnormal ocular adnexa morphology	91875	TTC5	OMIM:619244
HP:0030669	Abnormal ocular adnexa morphology	113246	C12orf57	OMIM:218340
HP:0030669	Abnormal ocular adnexa morphology	259266	ASPM	OMIM:608716
HP:0030669	Abnormal ocular adnexa morphology	57020	VPS35L	OMIM:619135
HP:0030669	Abnormal ocular adnexa morphology	3480	IGF1R	OMIM:270450
HP:0030669	Abnormal ocular adnexa morphology	126695	KDF1	OMIM:617337
HP:0030669	Abnormal ocular adnexa morphology	80232	WDR26	OMIM:617616
HP:0030669	Abnormal ocular adnexa morphology	80232	WDR26	ORPHA:513456
HP:0030669	Abnormal ocular adnexa morphology	5361	PLXNA1	OMIM:619955
HP:0030669	Abnormal ocular adnexa morphology	10026	PIGK	OMIM:618879
HP:0030669	Abnormal ocular adnexa morphology	112802	KRT71	ORPHA:170
HP:0030669	Abnormal ocular adnexa morphology	147183	KRT25	ORPHA:170
HP:0030669	Abnormal ocular adnexa morphology	6926	TBX3	OMIM:181450
HP:0030669	Abnormal ocular adnexa morphology	341208	HEPHL1	OMIM:261990
HP:0030669	Abnormal ocular adnexa morphology	2892	GRIA3	ORPHA:364028
HP:0030669	Abnormal ocular adnexa morphology	200424	TET3	OMIM:618798
HP:0030669	Abnormal ocular adnexa morphology	977	CD151	OMIM:609057
HP:0030669	Abnormal ocular adnexa morphology	8626	TP63	ORPHA:69085
HP:0030669	Abnormal ocular adnexa morphology	2591	GALNT3	OMIM:211900
HP:0030669	Abnormal ocular adnexa morphology	2972	BRF1	ORPHA:444072
HP:0030669	Abnormal ocular adnexa morphology	668	FOXL2	ORPHA:572333
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:177904
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:177901
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:98754
HP:0030669	Abnormal ocular adnexa morphology	10300	KATNB1	OMIM:616212
HP:0030669	Abnormal ocular adnexa morphology	84520	GON7	OMIM:619603
HP:0030669	Abnormal ocular adnexa morphology	2255	FGF10	OMIM:620193
HP:0030669	Abnormal ocular adnexa morphology	2255	FGF10	ORPHA:2363
HP:0030669	Abnormal ocular adnexa morphology	2261	FGFR3	OMIM:620192
HP:0030669	Abnormal ocular adnexa morphology	2261	FGFR3	ORPHA:2363
HP:0030669	Abnormal ocular adnexa morphology	341640	FREM2	ORPHA:2052
HP:0030669	Abnormal ocular adnexa morphology	23426	GRIP1	ORPHA:2052
HP:0030669	Abnormal ocular adnexa morphology	8295	TRRAP	OMIM:618454
HP:0030669	Abnormal ocular adnexa morphology	6651	SON	ORPHA:500150
HP:0030669	Abnormal ocular adnexa morphology	387	RHOA	OMIM:618727
HP:0030669	Abnormal ocular adnexa morphology	84570	COL25A1	ORPHA:91411
HP:0030669	Abnormal ocular adnexa morphology	79776	ZFHX4	ORPHA:91411
HP:0030669	Abnormal ocular adnexa morphology	5428	POLG	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	1890	TYMP	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	3980	LIG3	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	50484	RRM2B	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	9782	MATR3	ORPHA:600
HP:0030669	Abnormal ocular adnexa morphology	51621	KLF13	OMIM:612001
HP:0030669	Abnormal ocular adnexa morphology	80324	PUS1	OMIM:600462
HP:0030669	Abnormal ocular adnexa morphology	80324	PUS1	ORPHA:2598
HP:0030669	Abnormal ocular adnexa morphology	51067	YARS2	ORPHA:2598
HP:0030669	Abnormal ocular adnexa morphology	3664	IRF6	OMIM:119500
HP:0030669	Abnormal ocular adnexa morphology	3664	IRF6	ORPHA:1300
HP:0030669	Abnormal ocular adnexa morphology	22858	CILK1	OMIM:612651
HP:0030669	Abnormal ocular adnexa morphology	30062	RAX	OMIM:611038
HP:0030669	Abnormal ocular adnexa morphology	1147	CHUK	OMIM:619339
HP:0030669	Abnormal ocular adnexa morphology	54880	BCOR	ORPHA:568
HP:0030669	Abnormal ocular adnexa morphology	50940	PDE11A	ORPHA:1359
HP:0030669	Abnormal ocular adnexa morphology	25	ABL1	OMIM:617602
HP:0030669	Abnormal ocular adnexa morphology	54840	APTX	ORPHA:1168
HP:0030669	Abnormal ocular adnexa morphology	92482	BBIP1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	80184	CEP290	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	11020	IFT27	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	582	BBS1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	49855	SCAPER	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	4867	NPHP1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	51057	WDPCP	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	27241	BBS9	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	84984	CEP19	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	22954	TRIM32	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	54903	MKS1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	79738	BBS10	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	123016	TTC8	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	26160	IFT172	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	583	BBS2	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	585	BBS4	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	8195	MKKS	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	54585	LZTFL1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	55212	BBS7	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	166379	BBS12	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	10806	SDCCAG8	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	157657	CFAP418	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	84100	ARL6	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	129880	BBS5	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	80173	IFT74	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	118924	FRA10AC1	OMIM:620113
HP:0030669	Abnormal ocular adnexa morphology	5587	PRKD1	OMIM:617364
HP:0030669	Abnormal ocular adnexa morphology	2934	GSN	ORPHA:85448
HP:0030669	Abnormal ocular adnexa morphology	30008	EFEMP2	ORPHA:90349
HP:0030669	Abnormal ocular adnexa morphology	10516	FBLN5	ORPHA:90349
HP:0030669	Abnormal ocular adnexa morphology	5293	PIK3CD	ORPHA:221139
HP:0030669	Abnormal ocular adnexa morphology	90417	KNSTRN	ORPHA:221139
HP:0030669	Abnormal ocular adnexa morphology	4047	LSS	OMIM:618275
HP:0030669	Abnormal ocular adnexa morphology	80326	WNT10A	OMIM:150400
HP:0030669	Abnormal ocular adnexa morphology	29968	PSAT1	OMIM:616038
HP:0030669	Abnormal ocular adnexa morphology	26227	PHGDH	OMIM:256520
HP:0030669	Abnormal ocular adnexa morphology	10588	MTHFS	OMIM:618367
HP:0030669	Abnormal ocular adnexa morphology	93986	FOXP2	ORPHA:209908
HP:0030669	Abnormal ocular adnexa morphology	253959	RALGAPA1	OMIM:618797
HP:0030669	Abnormal ocular adnexa morphology	25871	NEPRO	OMIM:618853
HP:0030669	Abnormal ocular adnexa morphology	6602	SMARCD1	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	147912	SIX5	ORPHA:107
HP:0030669	Abnormal ocular adnexa morphology	3162	HMOX1	OMIM:614034
HP:0030669	Abnormal ocular adnexa morphology	7994	KAT6A	OMIM:616268
HP:0030669	Abnormal ocular adnexa morphology	22907	DHX30	OMIM:617804
HP:0030669	Abnormal ocular adnexa morphology	55315	SLC29A3	ORPHA:168569
HP:0030669	Abnormal ocular adnexa morphology	116931	MED12L	OMIM:618872
HP:0030669	Abnormal ocular adnexa morphology	54453	RIN2	ORPHA:217335
HP:0030669	Abnormal ocular adnexa morphology	22827	PUF60	ORPHA:508498
HP:0030669	Abnormal ocular adnexa morphology	91949	COG7	OMIM:608779
HP:0030669	Abnormal ocular adnexa morphology	51574	LARP7	OMIM:615071
HP:0030669	Abnormal ocular adnexa morphology	51574	LARP7	ORPHA:319671
HP:0030669	Abnormal ocular adnexa morphology	8367	H4C5	OMIM:619950
HP:0030669	Abnormal ocular adnexa morphology	60529	ALX4	OMIM:613451
HP:0030669	Abnormal ocular adnexa morphology	220	ALDH1A3	OMIM:615113
HP:0030669	Abnormal ocular adnexa morphology	23394	ADNP	OMIM:615873
HP:0030669	Abnormal ocular adnexa morphology	55627	SMPD4	OMIM:618622
HP:0030669	Abnormal ocular adnexa morphology	145173	B3GLCT	ORPHA:709
HP:0030669	Abnormal ocular adnexa morphology	3703	STT3A	OMIM:619714
HP:0030669	Abnormal ocular adnexa morphology	5575	PRKAR1B	OMIM:619680
HP:0030669	Abnormal ocular adnexa morphology	7707	ZNF148	OMIM:617260
HP:0030669	Abnormal ocular adnexa morphology	6662	SOX9	OMIM:114290
HP:0030669	Abnormal ocular adnexa morphology	10982	MAPRE2	OMIM:616734
HP:0030669	Abnormal ocular adnexa morphology	29072	SETD2	OMIM:620157
HP:0030669	Abnormal ocular adnexa morphology	29072	SETD2	OMIM:620155
HP:0030669	Abnormal ocular adnexa morphology	55780	ERMARD	ORPHA:75857
HP:0030669	Abnormal ocular adnexa morphology	57231	SNX14	ORPHA:397709
HP:0030669	Abnormal ocular adnexa morphology	57231	SNX14	OMIM:616354
HP:0030669	Abnormal ocular adnexa morphology	4297	KMT2A	OMIM:605130
HP:0030669	Abnormal ocular adnexa morphology	4297	KMT2A	ORPHA:319182
HP:0030669	Abnormal ocular adnexa morphology	56992	KIF15	ORPHA:261323
HP:0030669	Abnormal ocular adnexa morphology	284058	KANSL1	ORPHA:363958
HP:0030669	Abnormal ocular adnexa morphology	284058	KANSL1	ORPHA:363965
HP:0030669	Abnormal ocular adnexa morphology	4998	ORC1	OMIM:224690
HP:0030669	Abnormal ocular adnexa morphology	3899	AFF3	OMIM:619297
HP:0030669	Abnormal ocular adnexa morphology	54496	PRMT7	OMIM:617157
HP:0030669	Abnormal ocular adnexa morphology	81788	NUAK2	OMIM:619452
HP:0030669	Abnormal ocular adnexa morphology	1108	CHD4	OMIM:617159
HP:0030669	Abnormal ocular adnexa morphology	7841	MOGS	OMIM:606056
HP:0030669	Abnormal ocular adnexa morphology	7841	MOGS	ORPHA:79330
HP:0030669	Abnormal ocular adnexa morphology	672	BRCA1	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	10459	MAD2L2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	7516	XRCC2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	29089	UBE2T	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	675	BRCA2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55120	FANCL	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2177	FANCD2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2175	FANCA	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2187	FANCB	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2176	FANCC	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2178	FANCE	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2188	FANCF	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2189	FANCG	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	5888	RAD51	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	5889	RAD51C	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55159	RFWD3	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	83990	BRIP1	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	57697	FANCM	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	79728	PALB2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	84464	SLX4	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	84464	SLX4	OMIM:613951
HP:0030669	Abnormal ocular adnexa morphology	2072	ERCC4	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55215	FANCI	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	3759	KCNJ2	OMIM:170390
HP:0030669	Abnormal ocular adnexa morphology	3759	KCNJ2	ORPHA:37553
HP:0030669	Abnormal ocular adnexa morphology	5422	POLA1	OMIM:301030
HP:0030669	Abnormal ocular adnexa morphology	6899	TBX1	OMIM:188400
HP:0030669	Abnormal ocular adnexa morphology	64919	BCL11B	OMIM:618092
HP:0030669	Abnormal ocular adnexa morphology	64919	BCL11B	OMIM:617237
HP:0030669	Abnormal ocular adnexa morphology	3977	LIFR	OMIM:601559
HP:0030669	Abnormal ocular adnexa morphology	26053	AUTS2	ORPHA:352490
HP:0030669	Abnormal ocular adnexa morphology	26053	AUTS2	OMIM:615834
HP:0030669	Abnormal ocular adnexa morphology	84314	TMEM107	OMIM:617563
HP:0030669	Abnormal ocular adnexa morphology	26040	SETBP1	OMIM:616078
HP:0030669	Abnormal ocular adnexa morphology	3188	HNRNPH2	OMIM:300986
HP:0030669	Abnormal ocular adnexa morphology	4613	MYCN	OMIM:164280
HP:0030669	Abnormal ocular adnexa morphology	4613	MYCN	ORPHA:391641
HP:0030669	Abnormal ocular adnexa morphology	57167	SALL4	ORPHA:959
HP:0030669	Abnormal ocular adnexa morphology	57167	SALL4	ORPHA:233
HP:0030669	Abnormal ocular adnexa morphology	79633	FAT4	OMIM:615546
HP:0030669	Abnormal ocular adnexa morphology	54551	MAGEL2	OMIM:615547
HP:0030669	Abnormal ocular adnexa morphology	89910	UBE3B	ORPHA:2707
HP:0030669	Abnormal ocular adnexa morphology	25942	SIN3A	OMIM:613406
HP:0030669	Abnormal ocular adnexa morphology	8642	DCHS1	OMIM:601390
HP:0030669	Abnormal ocular adnexa morphology	2697	GJA1	OMIM:164200
HP:0030669	Abnormal ocular adnexa morphology	2697	GJA1	OMIM:257850
HP:0030669	Abnormal ocular adnexa morphology	29980	DONSON	OMIM:251230
HP:0030669	Abnormal ocular adnexa morphology	8241	RBM10	OMIM:311900
HP:0030669	Abnormal ocular adnexa morphology	8241	RBM10	ORPHA:2886
HP:0030669	Abnormal ocular adnexa morphology	9935	MAFB	ORPHA:233
HP:0030669	Abnormal ocular adnexa morphology	1123	CHN1	ORPHA:233
HP:0030669	Abnormal ocular adnexa morphology	4593	MUSK	OMIM:208150
HP:0030669	Abnormal ocular adnexa morphology	29957	SLC25A24	OMIM:612289
HP:0030669	Abnormal ocular adnexa morphology	25885	POLR1A	ORPHA:1200
HP:0030669	Abnormal ocular adnexa morphology	10907	TXNL4A	ORPHA:1200
HP:0030669	Abnormal ocular adnexa morphology	10907	TXNL4A	OMIM:608572
HP:0030669	Abnormal ocular adnexa morphology	4659	PPP1R12A	OMIM:618820
HP:0030669	Abnormal ocular adnexa morphology	8239	USP9X	ORPHA:480880
HP:0030669	Abnormal ocular adnexa morphology	8239	USP9X	OMIM:300968
HP:0030669	Abnormal ocular adnexa morphology	81031	SLC2A10	ORPHA:3342
HP:0030669	Abnormal ocular adnexa morphology	81031	SLC2A10	OMIM:208050
HP:0030669	Abnormal ocular adnexa morphology	23137	SMC5	OMIM:620185
HP:0030669	Abnormal ocular adnexa morphology	10236	HNRNPR	OMIM:620073
HP:0030669	Abnormal ocular adnexa morphology	6595	SMARCA2	ORPHA:3051
HP:0030669	Abnormal ocular adnexa morphology	203068	TUBB	OMIM:156610
HP:0030669	Abnormal ocular adnexa morphology	8567	MADD	OMIM:619004
HP:0030669	Abnormal ocular adnexa morphology	8567	MADD	OMIM:619005
HP:0030669	Abnormal ocular adnexa morphology	7358	UGDH	OMIM:618792
HP:0030669	Abnormal ocular adnexa morphology	9702	CEP57	OMIM:614114
HP:0030669	Abnormal ocular adnexa morphology	3845	KRAS	ORPHA:3339
HP:0030669	Abnormal ocular adnexa morphology	10472	ZBTB18	OMIM:612337
HP:0030669	Abnormal ocular adnexa morphology	64093	SMOC1	OMIM:206920
HP:0030669	Abnormal ocular adnexa morphology	388015	RTL1	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	8788	DLK1	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	55384	MEG3	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	51322	WAC	ORPHA:284169
HP:0030669	Abnormal ocular adnexa morphology	8218	CLTCL1	ORPHA:453510
HP:0030669	Abnormal ocular adnexa morphology	2186	BPTF	OMIM:617755
HP:0030669	Abnormal ocular adnexa morphology	4000	LMNA	ORPHA:1662
HP:0030669	Abnormal ocular adnexa morphology	10269	ZMPSTE24	ORPHA:1662
HP:0030669	Abnormal ocular adnexa morphology	10269	ZMPSTE24	OMIM:275210
HP:0030669	Abnormal ocular adnexa morphology	23219	FBXO28	OMIM:619777
HP:0030669	Abnormal ocular adnexa morphology	23522	KAT6B	ORPHA:3047
HP:0030669	Abnormal ocular adnexa morphology	1387	CREBBP	OMIM:618332
HP:0030669	Abnormal ocular adnexa morphology	6913	TBX15	OMIM:260660
HP:0030669	Abnormal ocular adnexa morphology	55553	SOX6	OMIM:618971
HP:0030669	Abnormal ocular adnexa morphology	2033	EP300	OMIM:618333
HP:0030669	Abnormal ocular adnexa morphology	8621	CDK13	OMIM:617360
HP:0030669	Abnormal ocular adnexa morphology	23404	EXOSC2	OMIM:617763
HP:0030669	Abnormal ocular adnexa morphology	79228	THOC6	OMIM:613680
HP:0030669	Abnormal ocular adnexa morphology	2702	GJA5	OMIM:612474
HP:0030669	Abnormal ocular adnexa morphology	2703	GJA8	OMIM:612474
HP:0030669	Abnormal ocular adnexa morphology	1642	DDB1	OMIM:619426
HP:0030669	Abnormal ocular adnexa morphology	6664	SOX11	OMIM:615866
HP:0030669	Abnormal ocular adnexa morphology	63895	PIEZO2	ORPHA:2461
HP:0030669	Abnormal ocular adnexa morphology	3516	RBPJ	OMIM:614814
HP:0030669	Abnormal ocular adnexa morphology	246329	STAC3	OMIM:255995
HP:0030669	Abnormal ocular adnexa morphology	3762	KCNJ5	ORPHA:37553
HP:0030669	Abnormal ocular adnexa morphology	4089	SMAD4	ORPHA:2588
HP:0030669	Abnormal ocular adnexa morphology	10075	HUWE1	OMIM:309590
HP:0030669	Abnormal ocular adnexa morphology	999	CDH1	OMIM:119580
HP:0030669	Abnormal ocular adnexa morphology	999	CDH1	ORPHA:1997
HP:0030669	Abnormal ocular adnexa morphology	1500	CTNND1	OMIM:617681
HP:0030669	Abnormal ocular adnexa morphology	1500	CTNND1	ORPHA:1997
HP:0030669	Abnormal ocular adnexa morphology	444	ASPH	OMIM:601552
HP:0030669	Abnormal ocular adnexa morphology	6925	TCF4	OMIM:610954
HP:0030669	Abnormal ocular adnexa morphology	55768	NGLY1	ORPHA:404454
HP:0030669	Abnormal ocular adnexa morphology	3321	IGSF3	OMIM:149700
HP:0030669	Abnormal ocular adnexa morphology	6452	SH3BP2	OMIM:118400
HP:0030669	Abnormal ocular adnexa morphology	4137	MAPT	ORPHA:240071
HP:0030669	Abnormal ocular adnexa morphology	2271	FH	OMIM:606812
HP:0030669	Abnormal ocular adnexa morphology	28234	SLCO1B3	ORPHA:3111
HP:0030669	Abnormal ocular adnexa morphology	10599	SLCO1B1	ORPHA:3111
HP:0030669	Abnormal ocular adnexa morphology	5314	PKHD1	ORPHA:53035
HP:0030669	Abnormal ocular adnexa morphology	3909	LAMA3	OMIM:245660
HP:0030669	Abnormal ocular adnexa morphology	27316	RBMX	OMIM:300238
HP:0030669	Abnormal ocular adnexa morphology	55621	TRMT1	OMIM:618302
HP:0030669	Abnormal ocular adnexa morphology	388662	SLC6A17	ORPHA:457212
HP:0030669	Abnormal ocular adnexa morphology	388662	SLC6A17	OMIM:616269
HP:0030669	Abnormal ocular adnexa morphology	5238	PGM3	ORPHA:443811
HP:0030669	Abnormal ocular adnexa morphology	55165	CEP55	OMIM:236500
HP:0030669	Abnormal ocular adnexa morphology	23030	KDM4B	OMIM:619320
HP:0030669	Abnormal ocular adnexa morphology	5831	PYCR1	OMIM:614438
HP:0030669	Abnormal ocular adnexa morphology	9993	DGCR2	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	8220	ESS2	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	8214	DGCR6	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	54487	DGCR8	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	26153	KIF26A	OMIM:620156
HP:0030669	Abnormal ocular adnexa morphology	2556	GABRA3	OMIM:301091
HP:0030669	Abnormal ocular adnexa morphology	84295	PHF6	OMIM:301900
HP:0030669	Abnormal ocular adnexa morphology	23162	MAPK8IP3	OMIM:618443
HP:0030669	Abnormal ocular adnexa morphology	8913	CACNA1G	OMIM:618087
HP:0030669	Abnormal ocular adnexa morphology	5116	PCNT	ORPHA:2637
HP:0030669	Abnormal ocular adnexa morphology	9969	MED13	OMIM:618009
HP:0030669	Abnormal ocular adnexa morphology	7703	PCGF2	OMIM:618371
HP:0030669	Abnormal ocular adnexa morphology	11133	KPTN	ORPHA:397612
HP:0030669	Abnormal ocular adnexa morphology	55714	TENM3	OMIM:615145
HP:0030669	Abnormal ocular adnexa morphology	8550	MAPKAPK5	OMIM:619869
HP:0030669	Abnormal ocular adnexa morphology	57572	DOCK6	OMIM:614219
HP:0030669	Abnormal ocular adnexa morphology	5934	RBL2	OMIM:619690
HP:0030669	Abnormal ocular adnexa morphology	6507	SLC1A3	ORPHA:2131
HP:0030669	Abnormal ocular adnexa morphology	8318	CDC45	OMIM:617063
HP:0030669	Abnormal ocular adnexa morphology	10157	AASS	ORPHA:2203
HP:0030669	Abnormal ocular adnexa morphology	147495	APCDD1	OMIM:605389
HP:0030669	Abnormal ocular adnexa morphology	147495	APCDD1	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	267010	RNU12	OMIM:603116
HP:0030669	Abnormal ocular adnexa morphology	1825	DSC3	OMIM:613102
HP:0030669	Abnormal ocular adnexa morphology	3872	KRT17	OMIM:167210
HP:0030669	Abnormal ocular adnexa morphology	9076	CLDN1	ORPHA:59303
HP:0030669	Abnormal ocular adnexa morphology	9076	CLDN1	OMIM:607626
HP:0030669	Abnormal ocular adnexa morphology	22845	DOLK	OMIM:610768
HP:0030669	Abnormal ocular adnexa morphology	7286	TUFT1	OMIM:607655
HP:0030669	Abnormal ocular adnexa morphology	374393	FAM111B	OMIM:615704
HP:0030669	Abnormal ocular adnexa morphology	200879	LIPH	OMIM:604379
HP:0030669	Abnormal ocular adnexa morphology	200879	LIPH	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	3675	ITGA3	OMIM:614748
HP:0030669	Abnormal ocular adnexa morphology	10913	EDAR	OMIM:129490
HP:0030669	Abnormal ocular adnexa morphology	10913	EDAR	OMIM:224900
HP:0030669	Abnormal ocular adnexa morphology	10161	LPAR6	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	10161	LPAR6	OMIM:278150
HP:0030669	Abnormal ocular adnexa morphology	25959	KANK2	OMIM:616099
HP:0030669	Abnormal ocular adnexa morphology	11005	SPINK5	OMIM:256500
HP:0030669	Abnormal ocular adnexa morphology	11005	SPINK5	ORPHA:634
HP:0030669	Abnormal ocular adnexa morphology	54676	GTPBP2	OMIM:617988
HP:0030669	Abnormal ocular adnexa morphology	79971	WLS	OMIM:619648
HP:0030669	Abnormal ocular adnexa morphology	7480	WNT10B	OMIM:617073
HP:0030669	Abnormal ocular adnexa morphology	8815	BANF1	OMIM:614008
HP:0030669	Abnormal ocular adnexa morphology	120766137	HRURF	OMIM:146550
HP:0030669	Abnormal ocular adnexa morphology	7227	TRPS1	ORPHA:77258
HP:0030669	Abnormal ocular adnexa morphology	7045	TGFBI	OMIM:608470
HP:0030669	Abnormal ocular adnexa morphology	5457	POU4F1	ORPHA:314647
HP:0030669	Abnormal ocular adnexa morphology	83550	GPR101	ORPHA:963
HP:0030669	Abnormal ocular adnexa morphology	9049	AIP	ORPHA:963
HP:0030669	Abnormal ocular adnexa morphology	7512	XPNPEP2	ORPHA:100057
HP:0030669	Abnormal ocular adnexa morphology	5723	PSPH	ORPHA:79350
HP:0030669	Abnormal ocular adnexa morphology	3858	KRT10	ORPHA:312
HP:0030669	Abnormal ocular adnexa morphology	3848	KRT1	ORPHA:312
HP:0030669	Abnormal ocular adnexa morphology	10483	SEC23B	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6390	SDHB	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6392	SDHD	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6391	SDHC	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	205717	USF3	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	100144748	KLLN	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	5015	OTX2	ORPHA:990
HP:0030669	Abnormal ocular adnexa morphology	64421	DCLRE1C	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	100	ADA	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	3575	IL7R	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	3561	IL2RG	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	80067	DCAF17	ORPHA:3464
HP:0030669	Abnormal ocular adnexa morphology	197	AHSG	ORPHA:2850
HP:0030669	Abnormal ocular adnexa morphology	3694	ITGB6	ORPHA:2850
HP:0030669	Abnormal ocular adnexa morphology	60401	EDA2R	ORPHA:181
HP:0030669	Abnormal ocular adnexa morphology	151516	ASPRV1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	242	ALOX12B	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	126410	CYP4F22	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	6820	SULT2B1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	643418	LIPN	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	59344	ALOXE3	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	348938	NIPAL4	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	121214	SDR9C7	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	7051	TGM1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	58508	KMT2C	ORPHA:261652
HP:0030669	Abnormal ocular adnexa morphology	79574	EPS8L3	ORPHA:444
HP:0030669	Abnormal ocular adnexa morphology	6144	RPL21	OMIM:615885
HP:0030669	Abnormal ocular adnexa morphology	6635	SNRPE	OMIM:615059
HP:0030669	Abnormal ocular adnexa morphology	8882	ZPR1	OMIM:619321
HP:0030669	Abnormal ocular adnexa morphology	7390	UROS	ORPHA:79277
HP:0030669	Abnormal ocular adnexa morphology	2623	GATA1	ORPHA:79277
HP:0030669	Abnormal ocular adnexa morphology	7389	UROD	ORPHA:95159
HP:0030668	Periorbital dermoid cyst	5075	PAX1	OMIM:615560
HP:0030670	Hamartoma of the orbital region	7249	TSC2	OMIM:613254
HP:0030670	Hamartoma of the orbital region	7249	TSC2	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7249	TSC2	ORPHA:538
HP:0030670	Hamartoma of the orbital region	3458	IFNG	OMIM:613254
HP:0030670	Hamartoma of the orbital region	3458	IFNG	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7248	TSC1	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7248	TSC1	ORPHA:538
HP:0030670	Hamartoma of the orbital region	4771	NF2	ORPHA:637
HP:0030670	Hamartoma of the orbital region	4771	NF2	OMIM:101000
HP:0030670	Hamartoma of the orbital region	5728	PTEN	ORPHA:744
HP:0030670	Hamartoma of the orbital region	207	AKT1	ORPHA:744
HP:0030670	Hamartoma of the orbital region	7428	VHL	ORPHA:892
HP:0030670	Hamartoma of the orbital region	7428	VHL	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	7428	VHL	OMIM:193300
HP:0030670	Hamartoma of the orbital region	595	CCND1	ORPHA:892
HP:0030670	Hamartoma of the orbital region	595	CCND1	OMIM:193300
HP:0030670	Hamartoma of the orbital region	1743	DLST	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4191	MDH2	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	5979	RET	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	6389	SDHA	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	23095	KIF1B	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	2271	FH	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	8402	SLC25A11	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	54949	SDHAF2	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	55654	TMEM127	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4763	NF1	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4149	MAX	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	2956	MSH6	OMIM:619097
HP:0030670	Hamartoma of the orbital region	161742	SPRED1	ORPHA:137605
HP:0030670	Hamartoma of the orbital region	3858	KRT10	ORPHA:312
HP:0030670	Hamartoma of the orbital region	3848	KRT1	ORPHA:312
HP:0030670	Hamartoma of the orbital region	10483	SEC23B	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6390	SDHB	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6392	SDHD	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6391	SDHC	ORPHA:201
HP:0030670	Hamartoma of the orbital region	205717	USF3	ORPHA:201
HP:0030670	Hamartoma of the orbital region	5290	PIK3CA	ORPHA:201
HP:0030670	Hamartoma of the orbital region	100144748	KLLN	ORPHA:201
HP:0030672	Asteroid hyalosis	1280	COL2A1	OMIM:132450
HP:0030672	Asteroid hyalosis	1280	COL2A1	ORPHA:166011
HP:0030672	Asteroid hyalosis	403	ARL3	OMIM:618173
HP:0030672	Asteroid hyalosis	10594	PRPF8	OMIM:600059
HP:0000022	Abnormal male internal genitalia morphology	6662	SOX9	ORPHA:2138
HP:0000022	Abnormal male internal genitalia morphology	2516	NR5A1	ORPHA:2138
HP:0000022	Abnormal male internal genitalia morphology	6736	SRY	ORPHA:2138
HP:0000022	Abnormal male internal genitalia morphology	57647	DHX37	ORPHA:983
HP:0000022	Abnormal male internal genitalia morphology	3081	HGD	ORPHA:56
HP:0000022	Abnormal male internal genitalia morphology	695	BTK	OMIM:300755
HP:0000022	Abnormal male internal genitalia morphology	695	BTK	OMIM:307200
HP:0000022	Abnormal male internal genitalia morphology	1493	CTLA4	ORPHA:900
HP:0000022	Abnormal male internal genitalia morphology	26191	PTPN22	ORPHA:900
HP:0000022	Abnormal male internal genitalia morphology	3115	HLA-DPB1	ORPHA:900
HP:0000022	Abnormal male internal genitalia morphology	5657	PRTN3	ORPHA:900
HP:0000022	Abnormal male internal genitalia morphology	3113	HLA-DPA1	ORPHA:900
HP:0000022	Abnormal male internal genitalia morphology	7374	UNG	OMIM:608106
HP:0000022	Abnormal male internal genitalia morphology	5696	PSMB8	OMIM:256040
HP:0000022	Abnormal male internal genitalia morphology	3514	IGKC	ORPHA:183675
HP:0000022	Abnormal male internal genitalia morphology	3501	IGHG2	ORPHA:183675
HP:0000022	Abnormal male internal genitalia morphology	84295	PHF6	OMIM:301900
HP:0000022	Abnormal male internal genitalia morphology	50846	DHH	OMIM:233420
HP:0000022	Abnormal male internal genitalia morphology	1387	CREBBP	OMIM:180849
HP:0000022	Abnormal male internal genitalia morphology	2033	EP300	OMIM:180849
HP:0000022	Abnormal male internal genitalia morphology	672	BRCA1	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	7157	TP53	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	7157	TP53	OMIM:151623
HP:0000022	Abnormal male internal genitalia morphology	7157	TP53	ORPHA:524
HP:0000022	Abnormal male internal genitalia morphology	5892	RAD51D	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	675	BRCA2	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	675	BRCA2	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	5728	PTEN	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	5728	PTEN	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	10111	RAD50	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	580	BARD1	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	5888	RAD51	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	4683	NBN	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	5889	RAD51C	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	83990	BRIP1	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	4361	MRE11	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	79728	PALB2	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	11200	CHEK2	ORPHA:145
HP:0000022	Abnormal male internal genitalia morphology	11200	CHEK2	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	11200	CHEK2	ORPHA:524
HP:0000022	Abnormal male internal genitalia morphology	2048	EPHB2	OMIM:603688
HP:0000022	Abnormal male internal genitalia morphology	463	ZFHX3	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	1316	KLF6	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	999	CDH1	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	4601	MXI1	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	8379	MAD1L1	OMIM:176807
HP:0000022	Abnormal male internal genitalia morphology	54894	RNF43	ORPHA:157798
HP:0000022	Abnormal male internal genitalia morphology	6041	RNASEL	OMIM:601518
HP:0000022	Abnormal male internal genitalia morphology	26585	GREM1	ORPHA:157794
HP:0000022	Abnormal male internal genitalia morphology	657	BMPR1A	ORPHA:157794
HP:0000022	Abnormal male internal genitalia morphology	2304	FOXE1	OMIM:616534
HP:0000022	Abnormal male internal genitalia morphology	4665	NAB2	ORPHA:2126
HP:0000022	Abnormal male internal genitalia morphology	6778	STAT6	ORPHA:2126
HP:0000022	Abnormal male internal genitalia morphology	4913	NTHL1	OMIM:616415
HP:0000022	Abnormal male internal genitalia morphology	324	APC	ORPHA:79665
HP:0000022	Abnormal male internal genitalia morphology	7373	COL14A1	ORPHA:79501
HP:0000022	Abnormal male internal genitalia morphology	79719	AAGAB	ORPHA:79501
HP:0000022	Abnormal male internal genitalia morphology	1029	CDKN2A	ORPHA:524
HP:0000022	Abnormal male internal genitalia morphology	4193	MDM2	ORPHA:524
HP:0000022	Abnormal male internal genitalia morphology	10149	ADGRG2	ORPHA:48
HP:0000022	Abnormal male internal genitalia morphology	10149	ADGRG2	OMIM:300985
HP:0000022	Abnormal male internal genitalia morphology	1080	CFTR	ORPHA:48
HP:0000022	Abnormal male internal genitalia morphology	1080	CFTR	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	1080	CFTR	OMIM:277180
HP:0000022	Abnormal male internal genitalia morphology	6804	STX1A	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	2947	GSTM3	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	7040	TGFB1	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	2729	GCLC	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	1084	CEACAM3	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	6556	SLC11A1	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	51164	DCTN4	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	3783	KCNN4	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	4282	MIF	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	1909	EDNRA	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	6550	SLC9A3	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	3162	HMOX1	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	115019	SLC26A9	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	3077	HFE	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	11254	SLC6A14	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	5265	SERPINA1	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	22802	CLCA4	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	4680	CEACAM6	ORPHA:586
HP:0000022	Abnormal male internal genitalia morphology	367	AR	OMIM:312300
HP:0000022	Abnormal male internal genitalia morphology	7428	VHL	ORPHA:892
HP:0000022	Abnormal male internal genitalia morphology	7428	VHL	OMIM:193300
HP:0000022	Abnormal male internal genitalia morphology	595	CCND1	ORPHA:892
HP:0000022	Abnormal male internal genitalia morphology	595	CCND1	OMIM:193300
HP:0000022	Abnormal male internal genitalia morphology	10847	SRCAP	ORPHA:2044
HP:0000022	Abnormal male internal genitalia morphology	10847	SRCAP	OMIM:136140
HP:0000022	Abnormal male internal genitalia morphology	6928	HNF1B	OMIM:137920
HP:0000022	Abnormal male internal genitalia morphology	9075	CLDN2	OMIM:301060
HP:0000023	Inguinal hernia	8036	SHOC2	OMIM:607721
HP:0000023	Inguinal hernia	23394	ADNP	ORPHA:404448
HP:0000023	Inguinal hernia	8425	LTBP4	OMIM:613177
HP:0000023	Inguinal hernia	268	AMH	ORPHA:2856
HP:0000023	Inguinal hernia	268	AMH	OMIM:261550
HP:0000023	Inguinal hernia	269	AMHR2	ORPHA:2856
HP:0000023	Inguinal hernia	269	AMHR2	OMIM:261550
HP:0000023	Inguinal hernia	81857	MED25	OMIM:616449
HP:0000023	Inguinal hernia	81857	MED25	ORPHA:464738
HP:0000023	Inguinal hernia	64220	STRA6	OMIM:601186
HP:0000023	Inguinal hernia	64412	GZF1	OMIM:617662
HP:0000023	Inguinal hernia	477	ATP1A2	OMIM:619602
HP:0000023	Inguinal hernia	129563	DIS3L2	ORPHA:2849
HP:0000023	Inguinal hernia	79158	GNPTAB	OMIM:252500
HP:0000023	Inguinal hernia	79158	GNPTAB	ORPHA:576
HP:0000023	Inguinal hernia	64175	P3H1	OMIM:610915
HP:0000023	Inguinal hernia	57589	RIC1	OMIM:618761
HP:0000023	Inguinal hernia	113189	CHST14	ORPHA:2953
HP:0000023	Inguinal hernia	29940	DSE	ORPHA:2953
HP:0000023	Inguinal hernia	29940	DSE	OMIM:615539
HP:0000023	Inguinal hernia	23545	ATP6V0A2	ORPHA:2834
HP:0000023	Inguinal hernia	23545	ATP6V0A2	OMIM:278250
HP:0000023	Inguinal hernia	23545	ATP6V0A2	OMIM:219200
HP:0000023	Inguinal hernia	23545	ATP6V0A2	ORPHA:357074
HP:0000023	Inguinal hernia	4853	NOTCH2	OMIM:102500
HP:0000023	Inguinal hernia	4853	NOTCH2	ORPHA:955
HP:0000023	Inguinal hernia	3423	IDS	ORPHA:217085
HP:0000023	Inguinal hernia	3423	IDS	OMIM:309900
HP:0000023	Inguinal hernia	3423	IDS	ORPHA:217093
HP:0000023	Inguinal hernia	9968	MED12	ORPHA:93932
HP:0000023	Inguinal hernia	9968	MED12	OMIM:305450
HP:0000023	Inguinal hernia	9968	MED12	OMIM:300895
HP:0000023	Inguinal hernia	1183	CLCN4	ORPHA:485350
HP:0000023	Inguinal hernia	64359	NXN	ORPHA:1507
HP:0000023	Inguinal hernia	4920	ROR2	ORPHA:1507
HP:0000023	Inguinal hernia	4920	ROR2	OMIM:268310
HP:0000023	Inguinal hernia	8626	TP63	ORPHA:93930
HP:0000023	Inguinal hernia	3670	ISL1	ORPHA:93930
HP:0000023	Inguinal hernia	1277	COL1A1	ORPHA:287
HP:0000023	Inguinal hernia	1277	COL1A1	OMIM:619115
HP:0000023	Inguinal hernia	1277	COL1A1	ORPHA:1899
HP:0000023	Inguinal hernia	1289	COL5A1	ORPHA:287
HP:0000023	Inguinal hernia	1289	COL5A1	OMIM:130000
HP:0000023	Inguinal hernia	1290	COL5A2	ORPHA:287
HP:0000023	Inguinal hernia	1281	COL3A1	ORPHA:286
HP:0000023	Inguinal hernia	1281	COL3A1	OMIM:130050
HP:0000023	Inguinal hernia	23347	SMCHD1	OMIM:603457
HP:0000023	Inguinal hernia	23347	SMCHD1	ORPHA:2250
HP:0000023	Inguinal hernia	6926	TBX3	OMIM:181450
HP:0000023	Inguinal hernia	22872	SEC31A	OMIM:618651
HP:0000023	Inguinal hernia	54968	TMEM70	OMIM:614052
HP:0000023	Inguinal hernia	11107	PRDM5	OMIM:614170
HP:0000023	Inguinal hernia	1656	DDX6	OMIM:618653
HP:0000023	Inguinal hernia	1501	CTNND2	ORPHA:281
HP:0000023	Inguinal hernia	9037	SEMA5A	ORPHA:281
HP:0000023	Inguinal hernia	84314	TMEM107	OMIM:617563
HP:0000023	Inguinal hernia	2783	GNB2	OMIM:619503
HP:0000023	Inguinal hernia	5337	PLD1	OMIM:212093
HP:0000023	Inguinal hernia	339983	NAT8L	OMIM:614063
HP:0000023	Inguinal hernia	54914	FOCAD	OMIM:619991
HP:0000023	Inguinal hernia	5048	PAFAH1B1	ORPHA:217385
HP:0000023	Inguinal hernia	7531	YWHAE	ORPHA:217385
HP:0000023	Inguinal hernia	9091	PIGQ	OMIM:618548
HP:0000023	Inguinal hernia	6134	RPL10	ORPHA:459070
HP:0000023	Inguinal hernia	6134	RPL10	OMIM:300998
HP:0000023	Inguinal hernia	2990	GUSB	ORPHA:584
HP:0000023	Inguinal hernia	715	C1R	OMIM:130080
HP:0000023	Inguinal hernia	9158	FIBP	OMIM:617107
HP:0000023	Inguinal hernia	9158	FIBP	ORPHA:500095
HP:0000023	Inguinal hernia	2542	SLC37A4	OMIM:619525
HP:0000023	Inguinal hernia	9993	DGCR2	OMIM:192430
HP:0000023	Inguinal hernia	8220	ESS2	OMIM:192430
HP:0000023	Inguinal hernia	8214	DGCR6	OMIM:192430
HP:0000023	Inguinal hernia	54487	DGCR8	OMIM:192430
HP:0000023	Inguinal hernia	6899	TBX1	OMIM:192430
HP:0000023	Inguinal hernia	6899	TBX1	ORPHA:567
HP:0000023	Inguinal hernia	6899	TBX1	OMIM:188400
HP:0000023	Inguinal hernia	4621	MYH3	OMIM:178110
HP:0000023	Inguinal hernia	4621	MYH3	OMIM:193700
HP:0000023	Inguinal hernia	4621	MYH3	ORPHA:2990
HP:0000023	Inguinal hernia	2239	GPC4	ORPHA:373
HP:0000023	Inguinal hernia	2239	GPC4	OMIM:312870
HP:0000023	Inguinal hernia	2719	GPC3	ORPHA:373
HP:0000023	Inguinal hernia	2719	GPC3	OMIM:312870
HP:0000023	Inguinal hernia	79989	IFT56	OMIM:619534
HP:0000023	Inguinal hernia	284098	PIGW	OMIM:616025
HP:0000023	Inguinal hernia	259232	NALCN	OMIM:616266
HP:0000023	Inguinal hernia	23483	TGDS	OMIM:616145
HP:0000023	Inguinal hernia	4851	NOTCH1	OMIM:616028
HP:0000023	Inguinal hernia	2260	FGFR1	OMIM:166250
HP:0000023	Inguinal hernia	2260	FGFR1	ORPHA:2645
HP:0000023	Inguinal hernia	2006	ELN	ORPHA:90348
HP:0000023	Inguinal hernia	2006	ELN	OMIM:123700
HP:0000023	Inguinal hernia	2006	ELN	ORPHA:904
HP:0000023	Inguinal hernia	2006	ELN	OMIM:194050
HP:0000023	Inguinal hernia	2006	ELN	ORPHA:91387
HP:0000023	Inguinal hernia	10516	FBLN5	ORPHA:90348
HP:0000023	Inguinal hernia	10516	FBLN5	ORPHA:90349
HP:0000023	Inguinal hernia	10516	FBLN5	OMIM:219100
HP:0000023	Inguinal hernia	5832	ALDH18A1	ORPHA:90348
HP:0000023	Inguinal hernia	5832	ALDH18A1	OMIM:219150
HP:0000023	Inguinal hernia	25836	NIPBL	OMIM:122470
HP:0000023	Inguinal hernia	2720	GLB1	OMIM:230500
HP:0000023	Inguinal hernia	2720	GLB1	OMIM:253010
HP:0000023	Inguinal hernia	4052	LTBP1	ORPHA:90349
HP:0000023	Inguinal hernia	4052	LTBP1	OMIM:619451
HP:0000023	Inguinal hernia	30008	EFEMP2	ORPHA:90349
HP:0000023	Inguinal hernia	30008	EFEMP2	OMIM:614437
HP:0000023	Inguinal hernia	1107	CHD3	OMIM:618205
HP:0000023	Inguinal hernia	3339	HSPG2	OMIM:255800
HP:0000023	Inguinal hernia	3339	HSPG2	ORPHA:800
HP:0000023	Inguinal hernia	2317	FLNB	OMIM:272460
HP:0000023	Inguinal hernia	6595	SMARCA2	OMIM:601358
HP:0000023	Inguinal hernia	1387	CREBBP	OMIM:618332
HP:0000023	Inguinal hernia	8295	TRRAP	OMIM:618454
HP:0000023	Inguinal hernia	54101	RIPK4	OMIM:263650
HP:0000023	Inguinal hernia	4212	MEIS2	ORPHA:261190
HP:0000023	Inguinal hernia	1801	DPH1	ORPHA:459061
HP:0000023	Inguinal hernia	2737	GLI3	ORPHA:672
HP:0000023	Inguinal hernia	2737	GLI3	ORPHA:36
HP:0000023	Inguinal hernia	2737	GLI3	OMIM:175700
HP:0000023	Inguinal hernia	4088	SMAD3	ORPHA:284984
HP:0000023	Inguinal hernia	4088	SMAD3	OMIM:613795
HP:0000023	Inguinal hernia	4088	SMAD3	ORPHA:91387
HP:0000023	Inguinal hernia	6448	SGSH	OMIM:252900
HP:0000023	Inguinal hernia	5351	PLOD1	OMIM:225400
HP:0000023	Inguinal hernia	5351	PLOD1	ORPHA:1900
HP:0000023	Inguinal hernia	1859	DYRK1A	ORPHA:268261
HP:0000023	Inguinal hernia	10765	KDM5B	OMIM:618109
HP:0000023	Inguinal hernia	6418	SET	OMIM:618106
HP:0000023	Inguinal hernia	79813	EHMT1	ORPHA:96147
HP:0000023	Inguinal hernia	79813	EHMT1	ORPHA:261652
HP:0000023	Inguinal hernia	2627	GATA6	OMIM:600001
HP:0000023	Inguinal hernia	374654	KIF7	ORPHA:36
HP:0000023	Inguinal hernia	374654	KIF7	OMIM:200990
HP:0000023	Inguinal hernia	374654	KIF7	OMIM:607131
HP:0000023	Inguinal hernia	2972	BRF1	ORPHA:444072
HP:0000023	Inguinal hernia	5515	PPP2CA	OMIM:618354
HP:0000023	Inguinal hernia	388015	RTL1	ORPHA:254528
HP:0000023	Inguinal hernia	8788	DLK1	ORPHA:254528
HP:0000023	Inguinal hernia	55384	MEG3	ORPHA:254528
HP:0000023	Inguinal hernia	23729	SHPK	ORPHA:440713
HP:0000023	Inguinal hernia	4952	OCRL	ORPHA:534
HP:0000023	Inguinal hernia	4125	MAN2B1	OMIM:248500
HP:0000023	Inguinal hernia	6601	SMARCC2	OMIM:618362
HP:0000023	Inguinal hernia	84068	SLC10A7	OMIM:618363
HP:0000023	Inguinal hernia	165	AEBP1	OMIM:618000
HP:0000023	Inguinal hernia	165	AEBP1	ORPHA:536532
HP:0000023	Inguinal hernia	8260	NAA10	OMIM:300855
HP:0000023	Inguinal hernia	8260	NAA10	ORPHA:276432
HP:0000023	Inguinal hernia	5831	PYCR1	OMIM:612940
HP:0000023	Inguinal hernia	5831	PYCR1	OMIM:614438
HP:0000023	Inguinal hernia	9719	ADAMTSL2	ORPHA:1901
HP:0000023	Inguinal hernia	9509	ADAMTS2	ORPHA:1901
HP:0000023	Inguinal hernia	9509	ADAMTS2	OMIM:225410
HP:0000023	Inguinal hernia	1312	COMT	ORPHA:567
HP:0000023	Inguinal hernia	221037	JMJD1C	ORPHA:567
HP:0000023	Inguinal hernia	2812	GP1BB	ORPHA:567
HP:0000023	Inguinal hernia	6239	RREB1	ORPHA:567
HP:0000023	Inguinal hernia	7290	HIRA	ORPHA:567
HP:0000023	Inguinal hernia	9632	SEC24C	ORPHA:567
HP:0000023	Inguinal hernia	7353	UFD1	ORPHA:567
HP:0000023	Inguinal hernia	421	ARVCF	ORPHA:567
HP:0000023	Inguinal hernia	22827	PUF60	ORPHA:508488
HP:0000023	Inguinal hernia	538	ATP7A	ORPHA:565
HP:0000023	Inguinal hernia	538	ATP7A	ORPHA:198
HP:0000023	Inguinal hernia	27031	NPHP3	OMIM:267010
HP:0000023	Inguinal hernia	1280	COL2A1	OMIM:156550
HP:0000023	Inguinal hernia	1280	COL2A1	OMIM:184250
HP:0000023	Inguinal hernia	11342	RNF13	OMIM:618379
HP:0000023	Inguinal hernia	11342	RNF13	ORPHA:544503
HP:0000023	Inguinal hernia	7317	UBA1	OMIM:301830
HP:0000023	Inguinal hernia	84896	ATAD1	OMIM:618011
HP:0000023	Inguinal hernia	26040	SETBP1	ORPHA:798
HP:0000023	Inguinal hernia	2316	FLNA	ORPHA:75497
HP:0000023	Inguinal hernia	9791	PTDSS1	OMIM:151050
HP:0000023	Inguinal hernia	9791	PTDSS1	ORPHA:2658
HP:0000023	Inguinal hernia	716	C1S	OMIM:617174
HP:0000023	Inguinal hernia	10526	IPO8	OMIM:619472
HP:0000023	Inguinal hernia	64840	PORCN	ORPHA:2092
HP:0000023	Inguinal hernia	64840	PORCN	OMIM:305600
HP:0000023	Inguinal hernia	1278	COL1A2	OMIM:225320
HP:0000023	Inguinal hernia	1278	COL1A2	ORPHA:230851
HP:0000023	Inguinal hernia	1278	COL1A2	ORPHA:1899
HP:0000023	Inguinal hernia	94005	PIGS	OMIM:618143
HP:0000023	Inguinal hernia	6935	ZEB1	OMIM:609141
HP:0000023	Inguinal hernia	285590	SH3PXD2B	ORPHA:137834
HP:0000023	Inguinal hernia	10283	CWC27	ORPHA:166035
HP:0000023	Inguinal hernia	8720	MBTPS1	OMIM:618392
HP:0000023	Inguinal hernia	23405	DICER1	OMIM:618272
HP:0000023	Inguinal hernia	51360	MBTPS2	OMIM:308205
HP:0000023	Inguinal hernia	51360	MBTPS2	ORPHA:2273
HP:0000023	Inguinal hernia	1457	CSNK2A1	OMIM:617062
HP:0000023	Inguinal hernia	23112	TNRC6B	OMIM:619243
HP:0000023	Inguinal hernia	10220	GDF11	OMIM:619122
HP:0000023	Inguinal hernia	8450	CUL4B	ORPHA:85293
HP:0000023	Inguinal hernia	2799	GNS	OMIM:252940
HP:0000023	Inguinal hernia	5295	PIK3R1	ORPHA:3163
HP:0000023	Inguinal hernia	5295	PIK3R1	OMIM:269880
HP:0000023	Inguinal hernia	149461	CLDN19	ORPHA:2196
HP:0000023	Inguinal hernia	9487	PIGL	OMIM:280000
HP:0000023	Inguinal hernia	875	CBS	OMIM:236200
HP:0000023	Inguinal hernia	7474	WNT5A	OMIM:180700
HP:0000023	Inguinal hernia	7474	WNT5A	ORPHA:3107
HP:0000023	Inguinal hernia	1855	DVL1	OMIM:180700
HP:0000023	Inguinal hernia	1855	DVL1	ORPHA:3107
HP:0000023	Inguinal hernia	9897	WASHC5	ORPHA:7
HP:0000023	Inguinal hernia	28952	CCDC22	ORPHA:7
HP:0000023	Inguinal hernia	9652	SKIC3	ORPHA:84064
HP:0000023	Inguinal hernia	6499	SKIC2	ORPHA:84064
HP:0000023	Inguinal hernia	5518	PPP2R1A	ORPHA:457284
HP:0000023	Inguinal hernia	29969	MDFIC	OMIM:620014
HP:0000023	Inguinal hernia	7042	TGFB2	OMIM:614816
HP:0000023	Inguinal hernia	7042	TGFB2	ORPHA:91387
HP:0000023	Inguinal hernia	871	SERPINH1	OMIM:613848
HP:0000023	Inguinal hernia	168667	BMPER	OMIM:608022
HP:0000023	Inguinal hernia	4702	NDUFA8	OMIM:619272
HP:0000023	Inguinal hernia	10128	LRPPRC	OMIM:220111
HP:0000023	Inguinal hernia	55503	TRPV6	OMIM:618188
HP:0000023	Inguinal hernia	2904	GRIN2B	OMIM:613970
HP:0000023	Inguinal hernia	57539	WDR35	OMIM:613610
HP:0000023	Inguinal hernia	145173	B3GLCT	ORPHA:709
HP:0000023	Inguinal hernia	123263	MTFMT	OMIM:614947
HP:0000023	Inguinal hernia	4774	NFIA	OMIM:613735
HP:0000023	Inguinal hernia	4758	NEU1	OMIM:256550
HP:0000023	Inguinal hernia	4758	NEU1	ORPHA:93399
HP:0000023	Inguinal hernia	4758	NEU1	ORPHA:93400
HP:0000023	Inguinal hernia	23126	POGZ	ORPHA:468678
HP:0000023	Inguinal hernia	5352	PLOD2	OMIM:609220
HP:0000023	Inguinal hernia	64324	NSD1	ORPHA:821
HP:0000023	Inguinal hernia	64324	NSD1	ORPHA:3447
HP:0000023	Inguinal hernia	29072	SETD2	ORPHA:821
HP:0000023	Inguinal hernia	10297	APC2	ORPHA:821
HP:0000023	Inguinal hernia	10093	ARPC4	OMIM:620141
HP:0000023	Inguinal hernia	4281	MID1	OMIM:300000
HP:0000023	Inguinal hernia	4281	MID1	ORPHA:2745
HP:0000023	Inguinal hernia	8443	GNPAT	OMIM:222765
HP:0000023	Inguinal hernia	613	BCR	ORPHA:261330
HP:0000023	Inguinal hernia	1399	CRKL	ORPHA:261330
HP:0000023	Inguinal hernia	5594	MAPK1	ORPHA:261330
HP:0000023	Inguinal hernia	25782	RAB3GAP2	OMIM:212720
HP:0000023	Inguinal hernia	6197	RPS6KA3	OMIM:303600
HP:0000023	Inguinal hernia	1146	CHRNG	OMIM:265000
HP:0000023	Inguinal hernia	1146	CHRNG	ORPHA:2990
HP:0000023	Inguinal hernia	57492	ARID1B	OMIM:135900
HP:0000023	Inguinal hernia	92579	G6PC3	OMIM:612541
HP:0000023	Inguinal hernia	8289	ARID1A	OMIM:614607
HP:0000023	Inguinal hernia	6598	SMARCB1	OMIM:614608
HP:0000023	Inguinal hernia	26053	AUTS2	ORPHA:352490
HP:0000023	Inguinal hernia	26053	AUTS2	OMIM:615834
HP:0000023	Inguinal hernia	23314	SATB2	OMIM:612313
HP:0000023	Inguinal hernia	25942	SIN3A	OMIM:613406
HP:0000023	Inguinal hernia	3425	IDUA	OMIM:607014
HP:0000023	Inguinal hernia	3425	IDUA	OMIM:607015
HP:0000023	Inguinal hernia	175	AGA	ORPHA:93
HP:0000023	Inguinal hernia	5826	ABCD4	OMIM:614857
HP:0000023	Inguinal hernia	699	BUB1	OMIM:620183
HP:0000023	Inguinal hernia	1836	SLC26A2	OMIM:600972
HP:0000023	Inguinal hernia	197257	LDHD	OMIM:245450
HP:0000023	Inguinal hernia	1857	DVL3	ORPHA:3107
HP:0000023	Inguinal hernia	2535	FZD2	ORPHA:3107
HP:0000023	Inguinal hernia	6804	STX1A	ORPHA:904
HP:0000023	Inguinal hernia	7461	CLIP2	ORPHA:904
HP:0000023	Inguinal hernia	84277	DNAJC30	ORPHA:904
HP:0000023	Inguinal hernia	8468	FKBP6	ORPHA:904
HP:0000023	Inguinal hernia	5982	RFC2	ORPHA:904
HP:0000023	Inguinal hernia	2969	GTF2I	ORPHA:904
HP:0000023	Inguinal hernia	3984	LIMK1	ORPHA:904
HP:0000023	Inguinal hernia	9569	GTF2IRD1	ORPHA:904
HP:0000023	Inguinal hernia	155382	VPS37D	ORPHA:904
HP:0000023	Inguinal hernia	155368	METTL27	ORPHA:904
HP:0000023	Inguinal hernia	114049	BUD23	ORPHA:904
HP:0000023	Inguinal hernia	7458	EIF4H	ORPHA:904
HP:0000023	Inguinal hernia	84163	GTF2IRD2	ORPHA:904
HP:0000023	Inguinal hernia	9275	BCL7B	ORPHA:904
HP:0000023	Inguinal hernia	26608	TBL2	ORPHA:904
HP:0000023	Inguinal hernia	653361	NCF1	ORPHA:904
HP:0000023	Inguinal hernia	135886	TMEM270	ORPHA:904
HP:0000023	Inguinal hernia	51085	MLXIPL	ORPHA:904
HP:0000023	Inguinal hernia	51085	MLXIPL	OMIM:194050
HP:0000023	Inguinal hernia	9031	BAZ1B	ORPHA:904
HP:0000023	Inguinal hernia	10056	FARSB	OMIM:613658
HP:0000023	Inguinal hernia	81031	SLC2A10	ORPHA:3342
HP:0000023	Inguinal hernia	81031	SLC2A10	OMIM:208050
HP:0000023	Inguinal hernia	54499	TMCO1	OMIM:213980
HP:0000023	Inguinal hernia	84992	PIGY	OMIM:616809
HP:0000023	Inguinal hernia	10907	TXNL4A	OMIM:608572
HP:0000023	Inguinal hernia	58508	KMT2C	ORPHA:261652
HP:0000023	Inguinal hernia	4094	MAF	ORPHA:1272
HP:0000023	Inguinal hernia	8481	OFD1	OMIM:300209
HP:0000023	Inguinal hernia	3481	IGF2	ORPHA:397590
HP:0000023	Inguinal hernia	3481	IGF2	ORPHA:2128
HP:0000023	Inguinal hernia	1028	CDKN1C	ORPHA:397590
HP:0000023	Inguinal hernia	5324	PLAG1	ORPHA:397590
HP:0000023	Inguinal hernia	8091	HMGA2	ORPHA:397590
HP:0000023	Inguinal hernia	63895	PIEZO2	ORPHA:1154
HP:0000023	Inguinal hernia	63895	PIEZO2	OMIM:248700
HP:0000023	Inguinal hernia	10984	KCNQ1OT1	ORPHA:2128
HP:0000023	Inguinal hernia	283120	H19	ORPHA:2128
HP:0000023	Inguinal hernia	2146	EZH2	OMIM:277590
HP:0000023	Inguinal hernia	2146	EZH2	ORPHA:3447
HP:0000023	Inguinal hernia	7048	TGFBR2	OMIM:610168
HP:0000023	Inguinal hernia	7048	TGFBR2	ORPHA:91387
HP:0000023	Inguinal hernia	8726	EED	ORPHA:3447
HP:0000023	Inguinal hernia	23512	SUZ12	ORPHA:3447
HP:0000023	Inguinal hernia	55690	PACS1	ORPHA:329224
HP:0000023	Inguinal hernia	2245	FGD1	ORPHA:915
HP:0000023	Inguinal hernia	2245	FGD1	OMIM:305400
HP:0000023	Inguinal hernia	2200	FBN1	ORPHA:2462
HP:0000023	Inguinal hernia	2200	FBN1	ORPHA:91387
HP:0000023	Inguinal hernia	6497	SKI	ORPHA:2462
HP:0000023	Inguinal hernia	6497	SKI	OMIM:182212
HP:0000023	Inguinal hernia	4089	SMAD4	ORPHA:2588
HP:0000023	Inguinal hernia	4089	SMAD4	ORPHA:91387
HP:0000023	Inguinal hernia	411	ARSB	OMIM:253200
HP:0000023	Inguinal hernia	10847	SRCAP	OMIM:136140
HP:0000023	Inguinal hernia	4854	NOTCH3	OMIM:130720
HP:0000023	Inguinal hernia	4854	NOTCH3	ORPHA:2789
HP:0000023	Inguinal hernia	23291	FBXW11	OMIM:618914
HP:0000023	Inguinal hernia	4953	ODC1	ORPHA:544488
HP:0000023	Inguinal hernia	998	CDC42	OMIM:616737
HP:0000023	Inguinal hernia	998	CDC42	ORPHA:487796
HP:0000023	Inguinal hernia	55033	FKBP14	OMIM:614557
HP:0000023	Inguinal hernia	2187	FANCB	ORPHA:3412
HP:0000023	Inguinal hernia	2657	GDF1	OMIM:208530
HP:0000023	Inguinal hernia	10265	IRX5	OMIM:611174
HP:0000023	Inguinal hernia	134701	RIPPLY2	ORPHA:2311
HP:0000023	Inguinal hernia	10683	DLL3	ORPHA:2311
HP:0000023	Inguinal hernia	3955	LFNG	ORPHA:2311
HP:0000023	Inguinal hernia	84667	HES7	ORPHA:2311
HP:0000023	Inguinal hernia	145873	MESP2	ORPHA:2311
HP:0000023	Inguinal hernia	55764	IFT122	OMIM:218330
HP:0000023	Inguinal hernia	367	AR	OMIM:300068
HP:0000023	Inguinal hernia	8884	SLC5A6	OMIM:619903
HP:0000023	Inguinal hernia	2626	GATA4	OMIM:615542
HP:0000023	Inguinal hernia	56623	INPP5E	ORPHA:1454
HP:0000023	Inguinal hernia	91147	TMEM67	ORPHA:1454
HP:0000023	Inguinal hernia	23322	RPGRIP1L	ORPHA:1454
HP:0000023	Inguinal hernia	57545	CC2D2A	ORPHA:1454
HP:0000023	Inguinal hernia	79633	FAT4	OMIM:615546
HP:0000023	Inguinal hernia	6785	ELOVL4	OMIM:614457
HP:0000023	Inguinal hernia	26227	PHGDH	ORPHA:79351
HP:0000023	Inguinal hernia	2313	FLI1	ORPHA:2308
HP:0000023	Inguinal hernia	10664	CTCF	ORPHA:363611
HP:0000023	Inguinal hernia	2588	GALNS	OMIM:253000
HP:0000023	Inguinal hernia	1861	TOR1A	OMIM:618947
HP:0000023	Inguinal hernia	8905	AP1S2	ORPHA:1568
HP:0000023	Inguinal hernia	55617	TASP1	OMIM:618950
HP:0000023	Inguinal hernia	2741	GLRA1	OMIM:149400
HP:0000023	Inguinal hernia	10243	GPHN	OMIM:149400
HP:0000023	Inguinal hernia	523	ATP6V1A	ORPHA:357074
HP:0000023	Inguinal hernia	523	ATP6V1A	OMIM:617403
HP:0000023	Inguinal hernia	529	ATP6V1E1	ORPHA:357074
HP:0000023	Inguinal hernia	7518	XRCC4	OMIM:616541
HP:0000023	Inguinal hernia	10020	GNE	OMIM:269921
HP:0000023	Inguinal hernia	51780	KDM3B	OMIM:618846
HP:0000023	Inguinal hernia	5430	POLR2A	OMIM:618603
HP:0000023	Inguinal hernia	9469	CHST3	OMIM:245600
HP:0000023	Inguinal hernia	26229	B3GAT3	OMIM:245600
HP:0000023	Inguinal hernia	7043	TGFB3	OMIM:615582
HP:0000023	Inguinal hernia	7043	TGFB3	ORPHA:91387
HP:0000023	Inguinal hernia	57728	WDR19	OMIM:614376
HP:0000023	Inguinal hernia	203068	TUBB	ORPHA:2505
HP:0000023	Inguinal hernia	10982	MAPRE2	ORPHA:2505
HP:0000023	Inguinal hernia	221927	BRAT1	OMIM:614498
HP:0000023	Inguinal hernia	170302	ARX	ORPHA:2508
HP:0000023	Inguinal hernia	4629	MYH11	ORPHA:91387
HP:0000023	Inguinal hernia	7046	TGFBR1	ORPHA:91387
HP:0000023	Inguinal hernia	4015	LOX	ORPHA:91387
HP:0000023	Inguinal hernia	4087	SMAD2	ORPHA:91387
HP:0000023	Inguinal hernia	59	ACTA2	ORPHA:91387
HP:0000023	Inguinal hernia	5592	PRKG1	ORPHA:91387
HP:0000023	Inguinal hernia	2301	FOXE3	ORPHA:91387
HP:0000023	Inguinal hernia	4144	MAT2A	ORPHA:91387
HP:0000023	Inguinal hernia	23493	HEY2	ORPHA:91387
HP:0000023	Inguinal hernia	8076	MFAP5	ORPHA:91387
HP:0000023	Inguinal hernia	4638	MYLK	ORPHA:91387
HP:0000024	Prostatitis	3081	HGD	ORPHA:56
HP:0000024	Prostatitis	695	BTK	OMIM:300755
HP:0000024	Prostatitis	695	BTK	OMIM:307200
HP:0000024	Prostatitis	1493	CTLA4	ORPHA:900
HP:0000024	Prostatitis	26191	PTPN22	ORPHA:900
HP:0000024	Prostatitis	3115	HLA-DPB1	ORPHA:900
HP:0000024	Prostatitis	5657	PRTN3	ORPHA:900
HP:0000024	Prostatitis	3113	HLA-DPA1	ORPHA:900
HP:0000025	Functional abnormality of male internal genitalia	6804	STX1A	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	7461	CLIP2	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	84277	DNAJC30	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	8468	FKBP6	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	5982	RFC2	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	2969	GTF2I	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	3984	LIMK1	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	155382	VPS37D	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	155368	METTL27	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	114049	BUD23	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	7458	EIF4H	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	9275	BCL7B	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	26608	TBL2	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	653361	NCF1	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	135886	TMEM270	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	51085	MLXIPL	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	9031	BAZ1B	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	2006	ELN	ORPHA:904
HP:0000025	Functional abnormality of male internal genitalia	26160	IFT172	OMIM:619471
HP:0000025	Functional abnormality of male internal genitalia	1497	CTNS	OMIM:219800
HP:0000025	Functional abnormality of male internal genitalia	6662	SOX9	ORPHA:393
HP:0000025	Functional abnormality of male internal genitalia	6658	SOX3	ORPHA:393
HP:0000025	Functional abnormality of male internal genitalia	6736	SRY	ORPHA:393
HP:0000025	Functional abnormality of male internal genitalia	190	NR0B1	ORPHA:393
HP:0000025	Functional abnormality of male internal genitalia	4204	MECP2	OMIM:300055
HP:0000025	Functional abnormality of male internal genitalia	326	AIRE	OMIM:240300
HP:0000025	Functional abnormality of male internal genitalia	215	ABCD1	ORPHA:139396
HP:0000025	Functional abnormality of male internal genitalia	64682	ANAPC1	OMIM:618625
HP:0000025	Functional abnormality of male internal genitalia	493856	CISD2	ORPHA:3463
HP:0000025	Functional abnormality of male internal genitalia	7466	WFS1	ORPHA:3463
HP:0000025	Functional abnormality of male internal genitalia	7466	WFS1	ORPHA:411590
HP:0000025	Functional abnormality of male internal genitalia	1161	ERCC8	ORPHA:90321
HP:0000025	Functional abnormality of male internal genitalia	1161	ERCC8	ORPHA:90322
HP:0000025	Functional abnormality of male internal genitalia	2072	ERCC4	ORPHA:90321
HP:0000025	Functional abnormality of male internal genitalia	2074	ERCC6	ORPHA:90321
HP:0000025	Functional abnormality of male internal genitalia	2074	ERCC6	ORPHA:90322
HP:0000025	Functional abnormality of male internal genitalia	2067	ERCC1	ORPHA:90322
HP:0000025	Functional abnormality of male internal genitalia	2488	FSHB	ORPHA:52901
HP:0000025	Functional abnormality of male internal genitalia	1968	EIF2S3	OMIM:300148
HP:0000025	Functional abnormality of male internal genitalia	5424	POLD1	OMIM:615381
HP:0000025	Functional abnormality of male internal genitalia	3972	LHB	OMIM:228300
HP:0000025	Functional abnormality of male internal genitalia	64072	CDH23	ORPHA:91347
HP:0000025	Functional abnormality of male internal genitalia	64072	CDH23	ORPHA:2965
HP:0000025	Functional abnormality of male internal genitalia	4221	MEN1	ORPHA:2965
HP:0000025	Functional abnormality of male internal genitalia	9049	AIP	ORPHA:2965
HP:0000025	Functional abnormality of male internal genitalia	5422	POLA1	ORPHA:163976
HP:0000025	Functional abnormality of male internal genitalia	1586	CYP17A1	ORPHA:90793
HP:0000025	Functional abnormality of male internal genitalia	50846	DHH	ORPHA:168563
HP:0000025	Functional abnormality of male internal genitalia	55240	STEAP3	OMIM:615234
HP:0000025	Functional abnormality of male internal genitalia	55240	STEAP3	ORPHA:300298
HP:0000025	Functional abnormality of male internal genitalia	367	AR	OMIM:312300
HP:0000025	Functional abnormality of male internal genitalia	367	AR	ORPHA:90797
HP:0000025	Functional abnormality of male internal genitalia	84515	MCM8	OMIM:612885
HP:0000025	Functional abnormality of male internal genitalia	148738	HJV	OMIM:602390
HP:0000025	Functional abnormality of male internal genitalia	286	ANK1	ORPHA:251066
HP:0000025	Functional abnormality of male internal genitalia	55315	SLC29A3	OMIM:602782
HP:0000025	Functional abnormality of male internal genitalia	55315	SLC29A3	ORPHA:168569
HP:0000025	Functional abnormality of male internal genitalia	317761	C14orf39	OMIM:619202
HP:0000025	Functional abnormality of male internal genitalia	3284	HSD3B2	ORPHA:90791
HP:0000025	Functional abnormality of male internal genitalia	4952	OCRL	ORPHA:534
HP:0000025	Functional abnormality of male internal genitalia	6794	STK11	OMIM:273300
HP:0000025	Functional abnormality of male internal genitalia	8915	BCL10	OMIM:273300
HP:0000025	Functional abnormality of male internal genitalia	3815	KIT	OMIM:273300
HP:0000025	Functional abnormality of male internal genitalia	2261	FGFR3	OMIM:273300
HP:0000025	Functional abnormality of male internal genitalia	2629	GBA1	ORPHA:2072
HP:0000025	Functional abnormality of male internal genitalia	79184	BRCC3	ORPHA:280679
HP:0000025	Functional abnormality of male internal genitalia	672	BRCA1	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	10459	MAD2L2	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	29089	UBE2T	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	675	BRCA2	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	55120	FANCL	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2177	FANCD2	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2175	FANCA	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2187	FANCB	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2176	FANCC	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2178	FANCE	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2188	FANCF	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	2189	FANCG	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	5888	RAD51	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	5889	RAD51C	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	55159	RFWD3	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	83990	BRIP1	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	79728	PALB2	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	84464	SLX4	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	55215	FANCI	ORPHA:84
HP:0000025	Functional abnormality of male internal genitalia	56246	MRAP	ORPHA:361
HP:0000025	Functional abnormality of male internal genitalia	6770	STAR	ORPHA:361
HP:0000025	Functional abnormality of male internal genitalia	4158	MC2R	ORPHA:361
HP:0000025	Functional abnormality of male internal genitalia	23530	NNT	ORPHA:361
HP:0000025	Functional abnormality of male internal genitalia	10587	TXNRD2	ORPHA:361
HP:0000025	Functional abnormality of male internal genitalia	3730	ANOS1	OMIM:308700
HP:0000025	Functional abnormality of male internal genitalia	93953	GCNA	OMIM:301077
HP:0000025	Functional abnormality of male internal genitalia	6845	VAMP7	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	51741	WWOX	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	4214	MAP3K1	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	7490	WT1	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	58524	DMRT3	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	57647	DHX37	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	23414	ZFPM2	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	2626	GATA4	ORPHA:251510
HP:0000025	Functional abnormality of male internal genitalia	10371	SEMA3A	OMIM:614897
HP:0000025	Functional abnormality of male internal genitalia	9082	XKRY	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	8284	KDM5D	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	442862	PRY2	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	9081	PRY	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	140032	RPS4Y2	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	9426	CDY2A	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	9083	BPY2	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	86614	HSFY1	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	9084	VCY	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	9085	CDY1	OMIM:415000
HP:0000025	Functional abnormality of male internal genitalia	6342	SCP2	OMIM:613724
HP:0000025	Functional abnormality of male internal genitalia	3077	HFE	OMIM:235200
HP:0000025	Functional abnormality of male internal genitalia	650	BMP2	OMIM:235200
HP:0000025	Functional abnormality of male internal genitalia	7840	ALMS1	ORPHA:64
HP:0000025	Functional abnormality of male internal genitalia	3973	LHCGR	ORPHA:3000
HP:0000025	Functional abnormality of male internal genitalia	2908	NR3C1	ORPHA:786
HP:0000025	Functional abnormality of male internal genitalia	5447	POR	ORPHA:95699
HP:0000025	Functional abnormality of male internal genitalia	641	BLM	ORPHA:125
HP:0000025	Functional abnormality of male internal genitalia	7555	CNBP	OMIM:602668
HP:0000025	Functional abnormality of male internal genitalia	84984	CEP19	OMIM:615703
HP:0000025	Functional abnormality of male internal genitalia	84168	ANTXR1	ORPHA:2067
HP:0000025	Functional abnormality of male internal genitalia	25886	POC1A	OMIM:614813
HP:0000025	Functional abnormality of male internal genitalia	472	ATM	OMIM:208900
HP:0000025	Functional abnormality of male internal genitalia	80067	DCAF17	ORPHA:3464
HP:0000025	Functional abnormality of male internal genitalia	24145	PANX1	ORPHA:488191
HP:0000025	Functional abnormality of male internal genitalia	494551	WEE2	ORPHA:488191
HP:0000025	Functional abnormality of male internal genitalia	197135	PATL2	ORPHA:488191
HP:0000025	Functional abnormality of male internal genitalia	347688	TUBB8	ORPHA:488191
HP:0000025	Functional abnormality of male internal genitalia	340719	NANOS1	ORPHA:399808
HP:0000025	Functional abnormality of male internal genitalia	340719	NANOS1	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	2260	FGFR1	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	81848	SPRY4	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	128674	PROKR2	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	2253	FGF8	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	60675	PROK2	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	55636	CHD7	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	6870	TACR3	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	1848	DUSP6	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	26012	NSMF	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	55717	WDR11	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	9394	HS6ST1	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	2796	GNRH1	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	2798	GNRHR	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	84634	KISS1R	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	6866	TAC3	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	8822	FGF17	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	3814	KISS1	ORPHA:432
HP:0000025	Functional abnormality of male internal genitalia	402381	SOHLH1	OMIM:618115
HP:0000025	Functional abnormality of male internal genitalia	402381	SOHLH1	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	125150	ZSWIM7	OMIM:619831
HP:0000025	Functional abnormality of male internal genitalia	57697	FANCM	OMIM:618086
HP:0000025	Functional abnormality of male internal genitalia	57697	FANCM	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	10734	STAG3	OMIM:619672
HP:0000025	Functional abnormality of male internal genitalia	285498	RNF212	OMIM:619673
HP:0000025	Functional abnormality of male internal genitalia	158401	SHOC1	OMIM:619949
HP:0000025	Functional abnormality of male internal genitalia	6875	TAF4B	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	56155	TEX14	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	1080	CFTR	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	84225	ZMYND15	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	50511	SYCP3	ORPHA:399805
HP:0000025	Functional abnormality of male internal genitalia	4438	MSH4	OMIM:108420
HP:0000025	Functional abnormality of male internal genitalia	7258	TSPY1	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	57055	DAZ2	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	57135	DAZ4	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	8287	USP9Y	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	5940	RBMY1A1	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	57054	DAZ3	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	8653	DDX3Y	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	1617	DAZ1	ORPHA:1646
HP:0000025	Functional abnormality of male internal genitalia	10149	ADGRG2	ORPHA:48
HP:0000025	Functional abnormality of male internal genitalia	9075	CLDN2	OMIM:301060
HP:0000025	Functional abnormality of male internal genitalia	25981	DNAH1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	115948	ODAD3	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	54768	HYDIN	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	352909	DNAAF3	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	27148	STK36	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	51314	NME8	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	92749	DRC1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	54970	TTC12	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	152110	NEK10	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	8481	OFD1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	2302	FOXJ1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	221421	RSPH9	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	85478	CCDC65	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	55036	CCDC40	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	51364	ZMYND10	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	64446	DNAI2	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	6674	SPAG1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	83544	DNAL1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	89765	RSPH1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	83538	ODAD4	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	200373	CFAP221	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	374407	DNAJB13	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	55172	DNAAF2	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	161582	DNAAF4	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	2622	GAS8	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	23639	DNAAF11	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	27019	DNAI1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	345895	RSPH4A	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	54919	DNAAF5	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	6103	RPGR	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	388389	CCDC103	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	93233	ODAD1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	55130	ODAD2	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	1767	DNAH5	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	83861	RSPH3	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	345643	MCIDAS	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	56683	CFAP298	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	79925	SPEF2	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	10309	CCNO	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	115399	LRRC56	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	139212	DNAAF6	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	123872	DNAAF1	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	85016	CFAP300	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	339829	CCDC39	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	8701	DNAH11	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	1770	DNAH9	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	246176	GAS2L2	ORPHA:244
HP:0000025	Functional abnormality of male internal genitalia	5573	PRKAR1A	ORPHA:1359
HP:0000025	Functional abnormality of male internal genitalia	50940	PDE11A	ORPHA:1359
HP:0000025	Functional abnormality of male internal genitalia	146754	DNAH2	OMIM:619094
HP:0000025	Functional abnormality of male internal genitalia	91057	CCDC34	OMIM:620084
HP:0000025	Functional abnormality of male internal genitalia	1769	DNAH8	OMIM:619095
HP:0000025	Functional abnormality of male internal genitalia	51726	DNAJB11	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	23193	GANAB	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	5310	PKD1	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	5311	PKD2	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	29880	ALG5	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	9742	IFT140	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	79796	ALG9	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	80114	BICC1	ORPHA:730
HP:0000025	Functional abnormality of male internal genitalia	80217	CFAP43	OMIM:617592
HP:0000025	Functional abnormality of male internal genitalia	8632	DNAH17	OMIM:618643
HP:0000025	Functional abnormality of male internal genitalia	6928	HNF1B	OMIM:137920
HP:0000025	Functional abnormality of male internal genitalia	140732	SUN5	ORPHA:529970
HP:0000025	Functional abnormality of male internal genitalia	140732	SUN5	OMIM:617187
HP:0000025	Functional abnormality of male internal genitalia	83449	PMFBP1	ORPHA:529970
HP:0000025	Functional abnormality of male internal genitalia	89876	CFAP91	OMIM:619177
HP:0000025	Functional abnormality of male internal genitalia	23568	ARL2BP	OMIM:615434
HP:0000025	Functional abnormality of male internal genitalia	199223	TTC21A	OMIM:618429
HP:0000025	Functional abnormality of male internal genitalia	124404	SEPTIN12	OMIM:614822
HP:0000025	Functional abnormality of male internal genitalia	144132	DNHD1	OMIM:619712
HP:0000025	Functional abnormality of male internal genitalia	196385	DNAH10	OMIM:619515
HP:0000025	Functional abnormality of male internal genitalia	83894	TTC29	OMIM:618745
HP:0000025	Functional abnormality of male internal genitalia	755	CFAP410	OMIM:602271
HP:0000025	Functional abnormality of male internal genitalia	79846	CFAP69	OMIM:617959
HP:0000025	Functional abnormality of male internal genitalia	200162	SPAG17	OMIM:619380
HP:0000025	Functional abnormality of male internal genitalia	286464	CFAP47	OMIM:301059
HP:0000025	Functional abnormality of male internal genitalia	317719	KLHL10	OMIM:615081
HP:0000025	Functional abnormality of male internal genitalia	116369	SLC26A8	OMIM:606766
HP:0000025	Functional abnormality of male internal genitalia	84071	ARMC2	OMIM:618433
HP:0000025	Functional abnormality of male internal genitalia	144406	CFAP251	OMIM:618152
HP:0000025	Functional abnormality of male internal genitalia	201134	CEP112	OMIM:619044
HP:0000025	Functional abnormality of male internal genitalia	401024	FSIP2	OMIM:618153
HP:0000025	Functional abnormality of male internal genitalia	159686	CFAP58	OMIM:619144
HP:0000025	Functional abnormality of male internal genitalia	122481	AK7	OMIM:617965
HP:0000025	Functional abnormality of male internal genitalia	676	BRDT	OMIM:617644
HP:0000025	Functional abnormality of male internal genitalia	5161	PDHA2	OMIM:619828
HP:0000025	Functional abnormality of male internal genitalia	117155	CATSPER2	OMIM:611102
HP:0000025	Functional abnormality of male internal genitalia	117155	CATSPER2	OMIM:612997
HP:0000025	Functional abnormality of male internal genitalia	161497	STRC	OMIM:611102
HP:0000025	Functional abnormality of male internal genitalia	161497	STRC	OMIM:612997
HP:0000025	Functional abnormality of male internal genitalia	117144	CATSPER1	OMIM:612997
HP:0000025	Functional abnormality of male internal genitalia	57704	GBA2	ORPHA:320391
HP:0000025	Functional abnormality of male internal genitalia	157855	KCNU1	OMIM:620196
HP:0000025	Functional abnormality of male internal genitalia	6691	SPINK2	OMIM:618091
HP:0000025	Functional abnormality of male internal genitalia	22873	DZIP1	OMIM:619102
HP:0000025	Functional abnormality of male internal genitalia	255101	CFAP65	OMIM:618664
HP:0000025	Functional abnormality of male internal genitalia	118491	CFAP70	OMIM:618670
HP:0000025	Functional abnormality of male internal genitalia	80173	IFT74	OMIM:619585
HP:0000025	Functional abnormality of male internal genitalia	8556	CDC14A	OMIM:608653
HP:0000025	Functional abnormality of male internal genitalia	10388	SYCP2	OMIM:258150
HP:0000025	Functional abnormality of male internal genitalia	375307	CATIP	OMIM:619379
HP:0000025	Functional abnormality of male internal genitalia	254528	MEIOB	OMIM:617706
HP:0000025	Functional abnormality of male internal genitalia	2516	NR5A1	OMIM:613957
HP:0000025	Functional abnormality of male internal genitalia	56154	TEX15	OMIM:617960
HP:0000025	Functional abnormality of male internal genitalia	122402	TDRD9	OMIM:618110
HP:0000025	Functional abnormality of male internal genitalia	154197	PNLDC1	OMIM:619528
HP:0000025	Functional abnormality of male internal genitalia	4439	MSH5	OMIM:619937
HP:0000025	Functional abnormality of male internal genitalia	93426	SYCE1	OMIM:616950
HP:0000025	Functional abnormality of male internal genitalia	145645	TERB2	OMIM:619645
HP:0000025	Functional abnormality of male internal genitalia	283847	TERB1	OMIM:619646
HP:0000025	Functional abnormality of male internal genitalia	130951	M1AP	OMIM:619108
HP:0000025	Functional abnormality of male internal genitalia	54456	MOV10L1	OMIM:619878
HP:0000025	Functional abnormality of male internal genitalia	56159	TEX11	OMIM:309120
HP:0000025	Functional abnormality of male internal genitalia	7516	XRCC2	OMIM:619145
HP:0000025	Functional abnormality of male internal genitalia	25790	CFAP45	OMIM:619608
HP:0000025	Functional abnormality of male internal genitalia	140801	RPL10L	OMIM:619689
HP:0000025	Functional abnormality of male internal genitalia	57728	WDR19	OMIM:619867
HP:0000025	Functional abnormality of male internal genitalia	286151	FBXO43	OMIM:619696
HP:0000027	Azoospermia	1770	DNAH9	OMIM:618300
HP:0000027	Azoospermia	55240	STEAP3	OMIM:615234
HP:0000027	Azoospermia	55240	STEAP3	ORPHA:300298
HP:0000027	Azoospermia	367	AR	OMIM:312300
HP:0000027	Azoospermia	367	AR	ORPHA:90797
HP:0000027	Azoospermia	84515	MCM8	OMIM:612885
HP:0000027	Azoospermia	8468	FKBP6	OMIM:620103
HP:0000027	Azoospermia	148738	HJV	OMIM:602390
HP:0000027	Azoospermia	286	ANK1	ORPHA:251066
HP:0000027	Azoospermia	6736	SRY	OMIM:400045
HP:0000027	Azoospermia	6736	SRY	ORPHA:1772
HP:0000027	Azoospermia	6736	SRY	ORPHA:251510
HP:0000027	Azoospermia	55315	SLC29A3	OMIM:602782
HP:0000027	Azoospermia	55315	SLC29A3	ORPHA:168569
HP:0000027	Azoospermia	190	NR0B1	OMIM:300200
HP:0000027	Azoospermia	190	NR0B1	ORPHA:251510
HP:0000027	Azoospermia	317761	C14orf39	OMIM:619202
HP:0000027	Azoospermia	2488	FSHB	ORPHA:52901
HP:0000027	Azoospermia	2488	FSHB	OMIM:229070
HP:0000027	Azoospermia	3972	LHB	OMIM:228300
HP:0000027	Azoospermia	641	BLM	OMIM:210900
HP:0000027	Azoospermia	641	BLM	ORPHA:125
HP:0000027	Azoospermia	3284	HSD3B2	ORPHA:90791
HP:0000027	Azoospermia	4952	OCRL	ORPHA:534
HP:0000027	Azoospermia	6794	STK11	OMIM:273300
HP:0000027	Azoospermia	8915	BCL10	OMIM:273300
HP:0000027	Azoospermia	3815	KIT	OMIM:273300
HP:0000027	Azoospermia	2261	FGFR3	OMIM:273300
HP:0000027	Azoospermia	2629	GBA1	ORPHA:2072
HP:0000027	Azoospermia	79184	BRCC3	ORPHA:280679
HP:0000027	Azoospermia	672	BRCA1	ORPHA:84
HP:0000027	Azoospermia	10459	MAD2L2	ORPHA:84
HP:0000027	Azoospermia	29089	UBE2T	ORPHA:84
HP:0000027	Azoospermia	675	BRCA2	ORPHA:84
HP:0000027	Azoospermia	55120	FANCL	ORPHA:84
HP:0000027	Azoospermia	2177	FANCD2	ORPHA:84
HP:0000027	Azoospermia	2175	FANCA	ORPHA:84
HP:0000027	Azoospermia	2187	FANCB	ORPHA:84
HP:0000027	Azoospermia	2176	FANCC	ORPHA:84
HP:0000027	Azoospermia	2178	FANCE	ORPHA:84
HP:0000027	Azoospermia	2188	FANCF	ORPHA:84
HP:0000027	Azoospermia	2189	FANCG	ORPHA:84
HP:0000027	Azoospermia	5888	RAD51	ORPHA:84
HP:0000027	Azoospermia	5889	RAD51C	ORPHA:84
HP:0000027	Azoospermia	55159	RFWD3	ORPHA:84
HP:0000027	Azoospermia	83990	BRIP1	ORPHA:84
HP:0000027	Azoospermia	79728	PALB2	ORPHA:84
HP:0000027	Azoospermia	84464	SLX4	ORPHA:84
HP:0000027	Azoospermia	2072	ERCC4	ORPHA:84
HP:0000027	Azoospermia	55215	FANCI	ORPHA:84
HP:0000027	Azoospermia	56246	MRAP	ORPHA:361
HP:0000027	Azoospermia	6770	STAR	ORPHA:361
HP:0000027	Azoospermia	4158	MC2R	ORPHA:361
HP:0000027	Azoospermia	23530	NNT	ORPHA:361
HP:0000027	Azoospermia	10587	TXNRD2	ORPHA:361
HP:0000027	Azoospermia	3730	ANOS1	OMIM:308700
HP:0000027	Azoospermia	161497	STRC	ORPHA:94064
HP:0000027	Azoospermia	117155	CATSPER2	ORPHA:94064
HP:0000027	Azoospermia	93953	GCNA	OMIM:301077
HP:0000027	Azoospermia	5161	PDHA2	OMIM:619828
HP:0000027	Azoospermia	84984	CEP19	OMIM:615703
HP:0000027	Azoospermia	6662	SOX9	ORPHA:251510
HP:0000027	Azoospermia	6845	VAMP7	ORPHA:251510
HP:0000027	Azoospermia	51741	WWOX	ORPHA:251510
HP:0000027	Azoospermia	4214	MAP3K1	ORPHA:251510
HP:0000027	Azoospermia	7490	WT1	ORPHA:251510
HP:0000027	Azoospermia	58524	DMRT3	ORPHA:251510
HP:0000027	Azoospermia	57647	DHX37	ORPHA:251510
HP:0000027	Azoospermia	23414	ZFPM2	ORPHA:251510
HP:0000027	Azoospermia	2626	GATA4	ORPHA:251510
HP:0000027	Azoospermia	10371	SEMA3A	OMIM:614897
HP:0000027	Azoospermia	130951	M1AP	OMIM:619108
HP:0000027	Azoospermia	9082	XKRY	OMIM:415000
HP:0000027	Azoospermia	8284	KDM5D	OMIM:415000
HP:0000027	Azoospermia	442862	PRY2	OMIM:415000
HP:0000027	Azoospermia	9081	PRY	OMIM:415000
HP:0000027	Azoospermia	140032	RPS4Y2	OMIM:415000
HP:0000027	Azoospermia	9426	CDY2A	OMIM:415000
HP:0000027	Azoospermia	9083	BPY2	OMIM:415000
HP:0000027	Azoospermia	86614	HSFY1	OMIM:415000
HP:0000027	Azoospermia	9084	VCY	OMIM:415000
HP:0000027	Azoospermia	9085	CDY1	OMIM:415000
HP:0000027	Azoospermia	6342	SCP2	OMIM:613724
HP:0000027	Azoospermia	3077	HFE	OMIM:235200
HP:0000027	Azoospermia	650	BMP2	OMIM:235200
HP:0000027	Azoospermia	340719	NANOS1	ORPHA:399808
HP:0000027	Azoospermia	340719	NANOS1	ORPHA:399805
HP:0000027	Azoospermia	2260	FGFR1	ORPHA:432
HP:0000027	Azoospermia	81848	SPRY4	ORPHA:432
HP:0000027	Azoospermia	128674	PROKR2	ORPHA:432
HP:0000027	Azoospermia	2253	FGF8	ORPHA:432
HP:0000027	Azoospermia	60675	PROK2	ORPHA:432
HP:0000027	Azoospermia	55636	CHD7	ORPHA:432
HP:0000027	Azoospermia	6870	TACR3	ORPHA:432
HP:0000027	Azoospermia	1848	DUSP6	ORPHA:432
HP:0000027	Azoospermia	26012	NSMF	ORPHA:432
HP:0000027	Azoospermia	55717	WDR11	ORPHA:432
HP:0000027	Azoospermia	9394	HS6ST1	ORPHA:432
HP:0000027	Azoospermia	2796	GNRH1	ORPHA:432
HP:0000027	Azoospermia	2798	GNRHR	ORPHA:432
HP:0000027	Azoospermia	84634	KISS1R	ORPHA:432
HP:0000027	Azoospermia	6866	TAC3	ORPHA:432
HP:0000027	Azoospermia	8822	FGF17	ORPHA:432
HP:0000027	Azoospermia	3814	KISS1	ORPHA:432
HP:0000027	Azoospermia	6691	SPINK2	OMIM:618091
HP:0000027	Azoospermia	402381	SOHLH1	OMIM:618115
HP:0000027	Azoospermia	402381	SOHLH1	ORPHA:399805
HP:0000027	Azoospermia	125150	ZSWIM7	OMIM:619831
HP:0000027	Azoospermia	57697	FANCM	OMIM:618086
HP:0000027	Azoospermia	57697	FANCM	ORPHA:399805
HP:0000027	Azoospermia	56154	TEX15	OMIM:617960
HP:0000027	Azoospermia	56154	TEX15	ORPHA:399805
HP:0000027	Azoospermia	10734	STAG3	OMIM:619672
HP:0000027	Azoospermia	285498	RNF212	OMIM:619673
HP:0000027	Azoospermia	154197	PNLDC1	OMIM:619528
HP:0000027	Azoospermia	154197	PNLDC1	ORPHA:399805
HP:0000027	Azoospermia	4439	MSH5	OMIM:619937
HP:0000027	Azoospermia	93426	SYCE1	OMIM:616950
HP:0000027	Azoospermia	93426	SYCE1	ORPHA:399805
HP:0000027	Azoospermia	158401	SHOC1	OMIM:619949
HP:0000027	Azoospermia	145645	TERB2	OMIM:619645
HP:0000027	Azoospermia	283847	TERB1	OMIM:619646
HP:0000027	Azoospermia	54456	MOV10L1	OMIM:619878
HP:0000027	Azoospermia	254528	MEIOB	OMIM:617706
HP:0000027	Azoospermia	254528	MEIOB	ORPHA:399805
HP:0000027	Azoospermia	6875	TAF4B	ORPHA:399805
HP:0000027	Azoospermia	56155	TEX14	ORPHA:399805
HP:0000027	Azoospermia	7516	XRCC2	ORPHA:399805
HP:0000027	Azoospermia	91057	CCDC34	ORPHA:399805
HP:0000027	Azoospermia	2516	NR5A1	ORPHA:399805
HP:0000027	Azoospermia	317719	KLHL10	ORPHA:399805
HP:0000027	Azoospermia	56159	TEX11	ORPHA:399805
HP:0000027	Azoospermia	1080	CFTR	ORPHA:399805
HP:0000027	Azoospermia	84225	ZMYND15	ORPHA:399805
HP:0000027	Azoospermia	122402	TDRD9	ORPHA:399805
HP:0000027	Azoospermia	50511	SYCP3	ORPHA:399805
HP:0000027	Azoospermia	4438	MSH4	OMIM:108420
HP:0000027	Azoospermia	7258	TSPY1	ORPHA:1646
HP:0000027	Azoospermia	57055	DAZ2	ORPHA:1646
HP:0000027	Azoospermia	57135	DAZ4	ORPHA:1646
HP:0000027	Azoospermia	8287	USP9Y	ORPHA:1646
HP:0000027	Azoospermia	5940	RBMY1A1	ORPHA:1646
HP:0000027	Azoospermia	57054	DAZ3	ORPHA:1646
HP:0000027	Azoospermia	8653	DDX3Y	ORPHA:1646
HP:0000027	Azoospermia	1617	DAZ1	ORPHA:1646
HP:0000027	Azoospermia	10149	ADGRG2	ORPHA:48
HP:0000027	Azoospermia	9075	CLDN2	OMIM:301060
HP:0000028	Cryptorchidism	23394	ADNP	ORPHA:404448
HP:0000028	Cryptorchidism	23394	ADNP	OMIM:615873
HP:0000028	Cryptorchidism	8216	LZTR1	OMIM:616564
HP:0000028	Cryptorchidism	8216	LZTR1	OMIM:605275
HP:0000028	Cryptorchidism	8216	LZTR1	ORPHA:648
HP:0000028	Cryptorchidism	23135	KDM6B	OMIM:618505
HP:0000028	Cryptorchidism	1024	CDK8	OMIM:618748
HP:0000028	Cryptorchidism	91801	ALKBH8	OMIM:618504
HP:0000028	Cryptorchidism	1788	DNMT3A	ORPHA:404443
HP:0000028	Cryptorchidism	1131	CHRM3	ORPHA:2970
HP:0000028	Cryptorchidism	1131	CHRM3	OMIM:100100
HP:0000028	Cryptorchidism	7258	TSPY1	ORPHA:1646
HP:0000028	Cryptorchidism	57055	DAZ2	ORPHA:1646
HP:0000028	Cryptorchidism	57135	DAZ4	ORPHA:1646
HP:0000028	Cryptorchidism	8287	USP9Y	ORPHA:1646
HP:0000028	Cryptorchidism	5940	RBMY1A1	ORPHA:1646
HP:0000028	Cryptorchidism	57054	DAZ3	ORPHA:1646
HP:0000028	Cryptorchidism	8653	DDX3Y	ORPHA:1646
HP:0000028	Cryptorchidism	1617	DAZ1	ORPHA:1646
HP:0000028	Cryptorchidism	55209	SETD5	ORPHA:404440
HP:0000028	Cryptorchidism	197131	UBR1	OMIM:243800
HP:0000028	Cryptorchidism	9578	CDC42BPB	OMIM:619841
HP:0000028	Cryptorchidism	80816	ASXL3	OMIM:615485
HP:0000028	Cryptorchidism	1855	DVL1	OMIM:616331
HP:0000028	Cryptorchidism	1855	DVL1	OMIM:180700
HP:0000028	Cryptorchidism	1855	DVL1	ORPHA:3107
HP:0000028	Cryptorchidism	1841	DTYMK	OMIM:619847
HP:0000028	Cryptorchidism	55690	PACS1	OMIM:615009
HP:0000028	Cryptorchidism	55690	PACS1	ORPHA:329224
HP:0000028	Cryptorchidism	55904	KMT2E	OMIM:618512
HP:0000028	Cryptorchidism	6595	SMARCA2	ORPHA:2728
HP:0000028	Cryptorchidism	6595	SMARCA2	OMIM:601358
HP:0000028	Cryptorchidism	6595	SMARCA2	ORPHA:3051
HP:0000028	Cryptorchidism	6595	SMARCA2	OMIM:619293
HP:0000028	Cryptorchidism	2132	EXT2	ORPHA:466926
HP:0000028	Cryptorchidism	2132	EXT2	OMIM:616682
HP:0000028	Cryptorchidism	10908	PNPLA6	OMIM:275400
HP:0000028	Cryptorchidism	10908	PNPLA6	ORPHA:2377
HP:0000028	Cryptorchidism	1161	ERCC8	OMIM:216400
HP:0000028	Cryptorchidism	1161	ERCC8	ORPHA:90321
HP:0000028	Cryptorchidism	1161	ERCC8	ORPHA:90322
HP:0000028	Cryptorchidism	55636	CHD7	ORPHA:138
HP:0000028	Cryptorchidism	55636	CHD7	OMIM:214800
HP:0000028	Cryptorchidism	55636	CHD7	OMIM:612370
HP:0000028	Cryptorchidism	55636	CHD7	ORPHA:478
HP:0000028	Cryptorchidism	55636	CHD7	ORPHA:432
HP:0000028	Cryptorchidism	9723	SEMA3E	ORPHA:138
HP:0000028	Cryptorchidism	9723	SEMA3E	OMIM:146110
HP:0000028	Cryptorchidism	2192	FBLN1	ORPHA:404451
HP:0000028	Cryptorchidism	2188	FANCF	OMIM:603467
HP:0000028	Cryptorchidism	2188	FANCF	ORPHA:84
HP:0000028	Cryptorchidism	284403	WDR62	OMIM:604317
HP:0000028	Cryptorchidism	3190	HNRNPK	OMIM:616580
HP:0000028	Cryptorchidism	3190	HNRNPK	ORPHA:453504
HP:0000028	Cryptorchidism	3190	HNRNPK	ORPHA:352665
HP:0000028	Cryptorchidism	54453	RIN2	OMIM:613075
HP:0000028	Cryptorchidism	54453	RIN2	ORPHA:217335
HP:0000028	Cryptorchidism	113189	CHST14	ORPHA:2953
HP:0000028	Cryptorchidism	113189	CHST14	OMIM:601776
HP:0000028	Cryptorchidism	29940	DSE	ORPHA:2953
HP:0000028	Cryptorchidism	9968	MED12	ORPHA:93932
HP:0000028	Cryptorchidism	9968	MED12	OMIM:305450
HP:0000028	Cryptorchidism	9968	MED12	OMIM:300895
HP:0000028	Cryptorchidism	55681	SCYL2	OMIM:618766
HP:0000028	Cryptorchidism	3339	HSPG2	ORPHA:1865
HP:0000028	Cryptorchidism	3339	HSPG2	ORPHA:1606
HP:0000028	Cryptorchidism	3339	HSPG2	OMIM:224410
HP:0000028	Cryptorchidism	10484	SEC23A	OMIM:607812
HP:0000028	Cryptorchidism	23347	SMCHD1	OMIM:603457
HP:0000028	Cryptorchidism	23347	SMCHD1	ORPHA:2250
HP:0000028	Cryptorchidism	23327	NEDD4L	OMIM:617201
HP:0000028	Cryptorchidism	8036	SHOC2	ORPHA:2701
HP:0000028	Cryptorchidism	8036	SHOC2	OMIM:607721
HP:0000028	Cryptorchidism	5500	PPP1CB	ORPHA:2701
HP:0000028	Cryptorchidism	5500	PPP1CB	OMIM:617506
HP:0000028	Cryptorchidism	9860	LRIG2	ORPHA:2704
HP:0000028	Cryptorchidism	60495	HPSE2	ORPHA:2704
HP:0000028	Cryptorchidism	60495	HPSE2	OMIM:236730
HP:0000028	Cryptorchidism	92482	BBIP1	ORPHA:110
HP:0000028	Cryptorchidism	80184	CEP290	ORPHA:110
HP:0000028	Cryptorchidism	80184	CEP290	ORPHA:564
HP:0000028	Cryptorchidism	11020	IFT27	ORPHA:110
HP:0000028	Cryptorchidism	582	BBS1	ORPHA:110
HP:0000028	Cryptorchidism	49855	SCAPER	ORPHA:110
HP:0000028	Cryptorchidism	4867	NPHP1	ORPHA:110
HP:0000028	Cryptorchidism	51057	WDPCP	ORPHA:110
HP:0000028	Cryptorchidism	51057	WDPCP	ORPHA:1338
HP:0000028	Cryptorchidism	27241	BBS9	ORPHA:110
HP:0000028	Cryptorchidism	84984	CEP19	ORPHA:110
HP:0000028	Cryptorchidism	22954	TRIM32	ORPHA:110
HP:0000028	Cryptorchidism	54903	MKS1	ORPHA:110
HP:0000028	Cryptorchidism	54903	MKS1	ORPHA:564
HP:0000028	Cryptorchidism	54903	MKS1	OMIM:249000
HP:0000028	Cryptorchidism	79738	BBS10	ORPHA:110
HP:0000028	Cryptorchidism	123016	TTC8	ORPHA:110
HP:0000028	Cryptorchidism	583	BBS2	ORPHA:110
HP:0000028	Cryptorchidism	585	BBS4	ORPHA:110
HP:0000028	Cryptorchidism	585	BBS4	OMIM:615982
HP:0000028	Cryptorchidism	8195	MKKS	ORPHA:110
HP:0000028	Cryptorchidism	8195	MKKS	OMIM:236700
HP:0000028	Cryptorchidism	8195	MKKS	ORPHA:2473
HP:0000028	Cryptorchidism	54585	LZTFL1	ORPHA:110
HP:0000028	Cryptorchidism	55212	BBS7	ORPHA:110
HP:0000028	Cryptorchidism	166379	BBS12	ORPHA:110
HP:0000028	Cryptorchidism	10806	SDCCAG8	ORPHA:110
HP:0000028	Cryptorchidism	157657	CFAP418	ORPHA:110
HP:0000028	Cryptorchidism	84100	ARL6	ORPHA:110
HP:0000028	Cryptorchidism	129880	BBS5	ORPHA:110
HP:0000028	Cryptorchidism	80173	IFT74	ORPHA:110
HP:0000028	Cryptorchidism	23512	SUZ12	OMIM:618786
HP:0000028	Cryptorchidism	23512	SUZ12	ORPHA:3447
HP:0000028	Cryptorchidism	6905	TBCE	OMIM:241410
HP:0000028	Cryptorchidism	6905	TBCE	ORPHA:2323
HP:0000028	Cryptorchidism	51633	OTUD6B	OMIM:617452
HP:0000028	Cryptorchidism	51633	OTUD6B	ORPHA:505237
HP:0000028	Cryptorchidism	27125	AFF4	OMIM:616368
HP:0000028	Cryptorchidism	5590	PRKCZ	ORPHA:1606
HP:0000028	Cryptorchidism	2563	GABRD	ORPHA:1606
HP:0000028	Cryptorchidism	23013	SPEN	ORPHA:1606
HP:0000028	Cryptorchidism	8510	MMP23B	ORPHA:1606
HP:0000028	Cryptorchidism	7798	LUZP1	ORPHA:1606
HP:0000028	Cryptorchidism	6497	SKI	ORPHA:1606
HP:0000028	Cryptorchidism	6497	SKI	ORPHA:2462
HP:0000028	Cryptorchidism	6497	SKI	OMIM:182212
HP:0000028	Cryptorchidism	10630	PDPN	ORPHA:1606
HP:0000028	Cryptorchidism	10277	UBE4B	ORPHA:1606
HP:0000028	Cryptorchidism	8514	KCNAB2	ORPHA:1606
HP:0000028	Cryptorchidism	473	RERE	ORPHA:1606
HP:0000028	Cryptorchidism	473	RERE	ORPHA:494344
HP:0000028	Cryptorchidism	473	RERE	OMIM:616975
HP:0000028	Cryptorchidism	63976	PRDM16	ORPHA:1606
HP:0000028	Cryptorchidism	54897	CASZ1	ORPHA:1606
HP:0000028	Cryptorchidism	1859	DYRK1A	ORPHA:464311
HP:0000028	Cryptorchidism	1859	DYRK1A	ORPHA:268261
HP:0000028	Cryptorchidism	2736	GLI2	OMIM:610829
HP:0000028	Cryptorchidism	2736	GLI2	OMIM:615849
HP:0000028	Cryptorchidism	79718	TBL1XR1	OMIM:602342
HP:0000028	Cryptorchidism	79718	TBL1XR1	ORPHA:487825
HP:0000028	Cryptorchidism	55210	ATAD3A	ORPHA:496790
HP:0000028	Cryptorchidism	641	BLM	OMIM:210900
HP:0000028	Cryptorchidism	9772	TMEM94	OMIM:618316
HP:0000028	Cryptorchidism	57688	ZSWIM6	OMIM:603671
HP:0000028	Cryptorchidism	57688	ZSWIM6	ORPHA:1827
HP:0000028	Cryptorchidism	63895	PIEZO2	ORPHA:376
HP:0000028	Cryptorchidism	63895	PIEZO2	OMIM:114300
HP:0000028	Cryptorchidism	63895	PIEZO2	OMIM:248700
HP:0000028	Cryptorchidism	5727	PTCH1	ORPHA:377
HP:0000028	Cryptorchidism	8643	PTCH2	ORPHA:377
HP:0000028	Cryptorchidism	51684	SUFU	ORPHA:377
HP:0000028	Cryptorchidism	2239	GPC4	ORPHA:373
HP:0000028	Cryptorchidism	2239	GPC4	OMIM:312870
HP:0000028	Cryptorchidism	2719	GPC3	ORPHA:373
HP:0000028	Cryptorchidism	2719	GPC3	OMIM:312870
HP:0000028	Cryptorchidism	23483	TGDS	OMIM:616145
HP:0000028	Cryptorchidism	2260	FGFR1	OMIM:166250
HP:0000028	Cryptorchidism	2260	FGFR1	OMIM:147950
HP:0000028	Cryptorchidism	2260	FGFR1	ORPHA:3157
HP:0000028	Cryptorchidism	2260	FGFR1	OMIM:613001
HP:0000028	Cryptorchidism	2260	FGFR1	OMIM:615465
HP:0000028	Cryptorchidism	2260	FGFR1	ORPHA:478
HP:0000028	Cryptorchidism	2260	FGFR1	ORPHA:432
HP:0000028	Cryptorchidism	2260	FGFR1	ORPHA:2645
HP:0000028	Cryptorchidism	25836	NIPBL	OMIM:122470
HP:0000028	Cryptorchidism	25836	NIPBL	ORPHA:199
HP:0000028	Cryptorchidism	84295	PHF6	ORPHA:127
HP:0000028	Cryptorchidism	84295	PHF6	OMIM:301900
HP:0000028	Cryptorchidism	56246	MRAP	ORPHA:361
HP:0000028	Cryptorchidism	6770	STAR	ORPHA:361
HP:0000028	Cryptorchidism	4158	MC2R	ORPHA:361
HP:0000028	Cryptorchidism	23530	NNT	ORPHA:361
HP:0000028	Cryptorchidism	23530	NNT	OMIM:614736
HP:0000028	Cryptorchidism	10587	TXNRD2	ORPHA:361
HP:0000028	Cryptorchidism	5881	RAC3	OMIM:618577
HP:0000028	Cryptorchidism	5081	PAX7	OMIM:618578
HP:0000028	Cryptorchidism	389827	MYMK	OMIM:254940
HP:0000028	Cryptorchidism	2263	FGFR2	ORPHA:794
HP:0000028	Cryptorchidism	2263	FGFR2	ORPHA:2363
HP:0000028	Cryptorchidism	2263	FGFR2	OMIM:101200
HP:0000028	Cryptorchidism	2263	FGFR2	ORPHA:1555
HP:0000028	Cryptorchidism	2261	FGFR3	ORPHA:794
HP:0000028	Cryptorchidism	2261	FGFR3	ORPHA:2363
HP:0000028	Cryptorchidism	9361	LONP1	OMIM:600373
HP:0000028	Cryptorchidism	56896	DPYSL5	OMIM:619435
HP:0000028	Cryptorchidism	8473	OGT	OMIM:300997
HP:0000028	Cryptorchidism	10765	KDM5B	OMIM:618109
HP:0000028	Cryptorchidism	1798	DPAGT1	OMIM:608093
HP:0000028	Cryptorchidism	79813	EHMT1	ORPHA:96147
HP:0000028	Cryptorchidism	79813	EHMT1	OMIM:610253
HP:0000028	Cryptorchidism	7681	MKRN3	OMIM:176270
HP:0000028	Cryptorchidism	3653	IPW	OMIM:176270
HP:0000028	Cryptorchidism	54551	MAGEL2	OMIM:176270
HP:0000028	Cryptorchidism	54551	MAGEL2	ORPHA:398069
HP:0000028	Cryptorchidism	54551	MAGEL2	ORPHA:98754
HP:0000028	Cryptorchidism	54551	MAGEL2	ORPHA:177904
HP:0000028	Cryptorchidism	54551	MAGEL2	ORPHA:177901
HP:0000028	Cryptorchidism	54551	MAGEL2	OMIM:615547
HP:0000028	Cryptorchidism	791114	PWRN1	OMIM:176270
HP:0000028	Cryptorchidism	100033413	SNORD116-1	OMIM:176270
HP:0000028	Cryptorchidism	8924	HERC2	OMIM:176270
HP:0000028	Cryptorchidism	145624	PWAR1	OMIM:176270
HP:0000028	Cryptorchidism	23742	NPAP1	OMIM:176270
HP:0000028	Cryptorchidism	338433	SNORD115-1	OMIM:176270
HP:0000028	Cryptorchidism	60675	PROK2	OMIM:610628
HP:0000028	Cryptorchidism	60675	PROK2	ORPHA:478
HP:0000028	Cryptorchidism	60675	PROK2	ORPHA:432
HP:0000028	Cryptorchidism	2737	GLI3	ORPHA:36
HP:0000028	Cryptorchidism	2737	GLI3	ORPHA:672
HP:0000028	Cryptorchidism	2737	GLI3	OMIM:146510
HP:0000028	Cryptorchidism	2737	GLI3	OMIM:175700
HP:0000028	Cryptorchidism	2737	GLI3	ORPHA:93322
HP:0000028	Cryptorchidism	2972	BRF1	ORPHA:444072
HP:0000028	Cryptorchidism	2972	BRF1	OMIM:616202
HP:0000028	Cryptorchidism	6299	SALL1	OMIM:107480
HP:0000028	Cryptorchidism	6299	SALL1	ORPHA:857
HP:0000028	Cryptorchidism	122402	TDRD9	OMIM:618110
HP:0000028	Cryptorchidism	6492	SIM1	ORPHA:398079
HP:0000028	Cryptorchidism	4952	OCRL	ORPHA:534
HP:0000028	Cryptorchidism	4952	OCRL	OMIM:309000
HP:0000028	Cryptorchidism	29954	POMT2	OMIM:236670
HP:0000028	Cryptorchidism	29954	POMT2	ORPHA:370968
HP:0000028	Cryptorchidism	29954	POMT2	ORPHA:899
HP:0000028	Cryptorchidism	29954	POMT2	OMIM:613156
HP:0000028	Cryptorchidism	9215	LARGE1	OMIM:236670
HP:0000028	Cryptorchidism	9215	LARGE1	ORPHA:370968
HP:0000028	Cryptorchidism	9215	LARGE1	ORPHA:899
HP:0000028	Cryptorchidism	79147	FKRP	OMIM:236670
HP:0000028	Cryptorchidism	79147	FKRP	ORPHA:370968
HP:0000028	Cryptorchidism	79147	FKRP	ORPHA:899
HP:0000028	Cryptorchidism	10585	POMT1	OMIM:236670
HP:0000028	Cryptorchidism	10585	POMT1	ORPHA:370968
HP:0000028	Cryptorchidism	10585	POMT1	ORPHA:899
HP:0000028	Cryptorchidism	2218	FKTN	OMIM:236670
HP:0000028	Cryptorchidism	2218	FKTN	ORPHA:899
HP:0000028	Cryptorchidism	1281	COL3A1	OMIM:130050
HP:0000028	Cryptorchidism	1281	COL3A1	ORPHA:286
HP:0000028	Cryptorchidism	29925	GMPPB	ORPHA:370968
HP:0000028	Cryptorchidism	3039	HBA1	ORPHA:98791
HP:0000028	Cryptorchidism	3040	HBA2	ORPHA:98791
HP:0000028	Cryptorchidism	84340	GFM2	ORPHA:565624
HP:0000028	Cryptorchidism	51132	RLIM	OMIM:300978
HP:0000028	Cryptorchidism	22930	RAB3GAP1	OMIM:600118
HP:0000028	Cryptorchidism	22930	RAB3GAP1	ORPHA:2510
HP:0000028	Cryptorchidism	22930	RAB3GAP1	ORPHA:1387
HP:0000028	Cryptorchidism	4998	ORC1	OMIM:224690
HP:0000028	Cryptorchidism	4998	ORC1	ORPHA:2554
HP:0000028	Cryptorchidism	6601	SMARCC2	OMIM:618362
HP:0000028	Cryptorchidism	6601	SMARCC2	ORPHA:1465
HP:0000028	Cryptorchidism	1312	COMT	ORPHA:567
HP:0000028	Cryptorchidism	221037	JMJD1C	ORPHA:567
HP:0000028	Cryptorchidism	2812	GP1BB	ORPHA:567
HP:0000028	Cryptorchidism	6239	RREB1	ORPHA:567
HP:0000028	Cryptorchidism	6899	TBX1	ORPHA:567
HP:0000028	Cryptorchidism	6899	TBX1	OMIM:192430
HP:0000028	Cryptorchidism	6899	TBX1	ORPHA:3303
HP:0000028	Cryptorchidism	7290	HIRA	ORPHA:567
HP:0000028	Cryptorchidism	9632	SEC24C	ORPHA:567
HP:0000028	Cryptorchidism	7353	UFD1	ORPHA:567
HP:0000028	Cryptorchidism	421	ARVCF	ORPHA:567
HP:0000028	Cryptorchidism	8260	NAA10	ORPHA:568
HP:0000028	Cryptorchidism	8260	NAA10	OMIM:309800
HP:0000028	Cryptorchidism	8260	NAA10	OMIM:300855
HP:0000028	Cryptorchidism	8260	NAA10	ORPHA:276432
HP:0000028	Cryptorchidism	54880	BCOR	ORPHA:568
HP:0000028	Cryptorchidism	54880	BCOR	OMIM:300166
HP:0000028	Cryptorchidism	54880	BCOR	OMIM:309800
HP:0000028	Cryptorchidism	84314	TMEM107	ORPHA:564
HP:0000028	Cryptorchidism	79867	TCTN2	ORPHA:564
HP:0000028	Cryptorchidism	80776	B9D2	ORPHA:564
HP:0000028	Cryptorchidism	79600	TCTN1	ORPHA:564
HP:0000028	Cryptorchidism	57096	RPGRIP1	ORPHA:564
HP:0000028	Cryptorchidism	79848	CSPP1	ORPHA:564
HP:0000028	Cryptorchidism	57545	CC2D2A	ORPHA:564
HP:0000028	Cryptorchidism	79583	TMEM231	ORPHA:564
HP:0000028	Cryptorchidism	91147	TMEM67	ORPHA:564
HP:0000028	Cryptorchidism	79770	TXNDC15	ORPHA:564
HP:0000028	Cryptorchidism	27077	B9D1	ORPHA:564
HP:0000028	Cryptorchidism	23322	RPGRIP1L	ORPHA:564
HP:0000028	Cryptorchidism	65062	TMEM237	ORPHA:564
HP:0000028	Cryptorchidism	7317	UBA1	OMIM:301830
HP:0000028	Cryptorchidism	7317	UBA1	ORPHA:1145
HP:0000028	Cryptorchidism	11285	B4GALT7	ORPHA:75496
HP:0000028	Cryptorchidism	3293	HSD17B3	ORPHA:752
HP:0000028	Cryptorchidism	4927	NUP88	ORPHA:994
HP:0000028	Cryptorchidism	4927	NUP88	OMIM:618393
HP:0000028	Cryptorchidism	7846	TUBA1A	ORPHA:994
HP:0000028	Cryptorchidism	4654	MYOD1	ORPHA:994
HP:0000028	Cryptorchidism	4593	MUSK	ORPHA:994
HP:0000028	Cryptorchidism	4593	MUSK	OMIM:208150
HP:0000028	Cryptorchidism	5913	RAPSN	ORPHA:994
HP:0000028	Cryptorchidism	5913	RAPSN	OMIM:618388
HP:0000028	Cryptorchidism	6572	SLC18A3	ORPHA:994
HP:0000028	Cryptorchidism	285489	DOK7	ORPHA:994
HP:0000028	Cryptorchidism	54809	SAMD9	OMIM:617053
HP:0000028	Cryptorchidism	57187	THOC2	OMIM:300957
HP:0000028	Cryptorchidism	134218	DNAJC21	OMIM:617052
HP:0000028	Cryptorchidism	57061	HYMAI	ORPHA:96191
HP:0000028	Cryptorchidism	5325	PLAGL1	ORPHA:96191
HP:0000028	Cryptorchidism	2892	GRIA3	ORPHA:364028
HP:0000028	Cryptorchidism	94005	PIGS	OMIM:618143
HP:0000028	Cryptorchidism	80036	TRPM3	OMIM:620224
HP:0000028	Cryptorchidism	5781	PTPN11	ORPHA:500
HP:0000028	Cryptorchidism	5781	PTPN11	ORPHA:648
HP:0000028	Cryptorchidism	5781	PTPN11	OMIM:151100
HP:0000028	Cryptorchidism	5781	PTPN11	OMIM:163950
HP:0000028	Cryptorchidism	673	BRAF	ORPHA:500
HP:0000028	Cryptorchidism	673	BRAF	ORPHA:1340
HP:0000028	Cryptorchidism	673	BRAF	OMIM:163950
HP:0000028	Cryptorchidism	5894	RAF1	ORPHA:500
HP:0000028	Cryptorchidism	5894	RAF1	ORPHA:648
HP:0000028	Cryptorchidism	5894	RAF1	OMIM:611553
HP:0000028	Cryptorchidism	2317	FLNB	ORPHA:503
HP:0000028	Cryptorchidism	2317	FLNB	ORPHA:1263
HP:0000028	Cryptorchidism	2317	FLNB	OMIM:108720
HP:0000028	Cryptorchidism	2317	FLNB	OMIM:150250
HP:0000028	Cryptorchidism	10283	CWC27	ORPHA:166035
HP:0000028	Cryptorchidism	388015	RTL1	ORPHA:96184
HP:0000028	Cryptorchidism	388015	RTL1	ORPHA:96334
HP:0000028	Cryptorchidism	8788	DLK1	ORPHA:96184
HP:0000028	Cryptorchidism	8788	DLK1	ORPHA:96334
HP:0000028	Cryptorchidism	55384	MEG3	ORPHA:96184
HP:0000028	Cryptorchidism	55384	MEG3	ORPHA:96334
HP:0000028	Cryptorchidism	2887	GRB10	ORPHA:96182
HP:0000028	Cryptorchidism	10682	EBP	OMIM:300960
HP:0000028	Cryptorchidism	10682	EBP	ORPHA:401973
HP:0000028	Cryptorchidism	51360	MBTPS2	OMIM:308205
HP:0000028	Cryptorchidism	51360	MBTPS2	ORPHA:85284
HP:0000028	Cryptorchidism	51360	MBTPS2	ORPHA:2273
HP:0000028	Cryptorchidism	8567	MADD	OMIM:619004
HP:0000028	Cryptorchidism	8567	MADD	OMIM:619005
HP:0000028	Cryptorchidism	374879	ZNF699	OMIM:619488
HP:0000028	Cryptorchidism	8318	CDC45	OMIM:617063
HP:0000028	Cryptorchidism	8318	CDC45	ORPHA:2554
HP:0000028	Cryptorchidism	28952	CCDC22	OMIM:300963
HP:0000028	Cryptorchidism	23112	TNRC6B	OMIM:619243
HP:0000028	Cryptorchidism	91875	TTC5	OMIM:619244
HP:0000028	Cryptorchidism	6663	SOX10	OMIM:609136
HP:0000028	Cryptorchidism	6663	SOX10	OMIM:613266
HP:0000028	Cryptorchidism	6663	SOX10	ORPHA:478
HP:0000028	Cryptorchidism	7169	TPM2	OMIM:108120
HP:0000028	Cryptorchidism	201595	STT3B	ORPHA:370924
HP:0000028	Cryptorchidism	201595	STT3B	OMIM:615597
HP:0000028	Cryptorchidism	8242	KDM5C	ORPHA:85279
HP:0000028	Cryptorchidism	8242	KDM5C	OMIM:300534
HP:0000028	Cryptorchidism	23133	PHF8	ORPHA:85287
HP:0000028	Cryptorchidism	84464	SLX4	OMIM:613951
HP:0000028	Cryptorchidism	84464	SLX4	ORPHA:84
HP:0000028	Cryptorchidism	284058	KANSL1	OMIM:610443
HP:0000028	Cryptorchidism	284058	KANSL1	ORPHA:363958
HP:0000028	Cryptorchidism	284058	KANSL1	ORPHA:363965
HP:0000028	Cryptorchidism	1968	EIF2S3	ORPHA:85282
HP:0000028	Cryptorchidism	5557	PRIM1	OMIM:620005
HP:0000028	Cryptorchidism	7474	WNT5A	OMIM:180700
HP:0000028	Cryptorchidism	7474	WNT5A	ORPHA:3107
HP:0000028	Cryptorchidism	114034	TOE1	ORPHA:284339
HP:0000028	Cryptorchidism	114034	TOE1	OMIM:614969
HP:0000028	Cryptorchidism	9562	MINPP1	ORPHA:284339
HP:0000028	Cryptorchidism	55294	FBXW7	OMIM:620012
HP:0000028	Cryptorchidism	128674	PROKR2	ORPHA:3157
HP:0000028	Cryptorchidism	128674	PROKR2	OMIM:244200
HP:0000028	Cryptorchidism	128674	PROKR2	ORPHA:95496
HP:0000028	Cryptorchidism	128674	PROKR2	ORPHA:478
HP:0000028	Cryptorchidism	128674	PROKR2	ORPHA:432
HP:0000028	Cryptorchidism	6657	SOX2	ORPHA:3157
HP:0000028	Cryptorchidism	6657	SOX2	OMIM:206900
HP:0000028	Cryptorchidism	6657	SOX2	ORPHA:77298
HP:0000028	Cryptorchidism	6658	SOX3	ORPHA:3157
HP:0000028	Cryptorchidism	9915	ARNT2	ORPHA:3157
HP:0000028	Cryptorchidism	9915	ARNT2	OMIM:615926
HP:0000028	Cryptorchidism	8820	HESX1	ORPHA:3157
HP:0000028	Cryptorchidism	8820	HESX1	ORPHA:95496
HP:0000028	Cryptorchidism	8820	HESX1	ORPHA:478
HP:0000028	Cryptorchidism	5015	OTX2	ORPHA:3157
HP:0000028	Cryptorchidism	5015	OTX2	OMIM:610125
HP:0000028	Cryptorchidism	6716	SRD5A2	ORPHA:753
HP:0000028	Cryptorchidism	6716	SRD5A2	OMIM:264600
HP:0000028	Cryptorchidism	8085	KMT2D	OMIM:147920
HP:0000028	Cryptorchidism	8085	KMT2D	ORPHA:2322
HP:0000028	Cryptorchidism	7403	KDM6A	OMIM:147920
HP:0000028	Cryptorchidism	7403	KDM6A	ORPHA:2322
HP:0000028	Cryptorchidism	6095	RORA	OMIM:618060
HP:0000028	Cryptorchidism	8450	CUL4B	OMIM:300354
HP:0000028	Cryptorchidism	23241	PACS2	OMIM:618067
HP:0000028	Cryptorchidism	7518	XRCC4	ORPHA:99812
HP:0000028	Cryptorchidism	7518	XRCC4	OMIM:616541
HP:0000028	Cryptorchidism	3981	LIG4	ORPHA:99812
HP:0000028	Cryptorchidism	3981	LIG4	OMIM:606593
HP:0000028	Cryptorchidism	3981	LIG4	ORPHA:235
HP:0000028	Cryptorchidism	9839	ZEB2	OMIM:235730
HP:0000028	Cryptorchidism	9839	ZEB2	ORPHA:261552
HP:0000028	Cryptorchidism	9839	ZEB2	ORPHA:261537
HP:0000028	Cryptorchidism	80144	FRAS1	OMIM:219000
HP:0000028	Cryptorchidism	80144	FRAS1	ORPHA:2052
HP:0000028	Cryptorchidism	81839	VANGL1	ORPHA:3027
HP:0000028	Cryptorchidism	80199	FUZ	ORPHA:3027
HP:0000028	Cryptorchidism	64324	NSD1	ORPHA:821
HP:0000028	Cryptorchidism	64324	NSD1	OMIM:117550
HP:0000028	Cryptorchidism	64324	NSD1	ORPHA:3447
HP:0000028	Cryptorchidism	29072	SETD2	ORPHA:821
HP:0000028	Cryptorchidism	10297	APC2	ORPHA:821
HP:0000028	Cryptorchidism	5447	POR	ORPHA:95699
HP:0000028	Cryptorchidism	5447	POR	OMIM:201750
HP:0000028	Cryptorchidism	9401	RECQL4	OMIM:268400
HP:0000028	Cryptorchidism	9401	RECQL4	ORPHA:221016
HP:0000028	Cryptorchidism	55112	DYNC2I1	ORPHA:93271
HP:0000028	Cryptorchidism	57560	IFT80	ORPHA:93271
HP:0000028	Cryptorchidism	57539	WDR35	ORPHA:93271
HP:0000028	Cryptorchidism	79659	DYNC2H1	ORPHA:93271
HP:0000028	Cryptorchidism	89891	DYNC2I2	ORPHA:93271
HP:0000028	Cryptorchidism	89891	DYNC2I2	OMIM:615633
HP:0000028	Cryptorchidism	3664	IRF6	OMIM:119500
HP:0000028	Cryptorchidism	3664	IRF6	ORPHA:1300
HP:0000028	Cryptorchidism	4010	LMX1B	ORPHA:495818
HP:0000028	Cryptorchidism	6812	STXBP1	ORPHA:495818
HP:0000028	Cryptorchidism	79947	DHDDS	OMIM:613861
HP:0000028	Cryptorchidism	1717	DHCR7	ORPHA:818
HP:0000028	Cryptorchidism	1717	DHCR7	OMIM:270400
HP:0000028	Cryptorchidism	10978	CLP1	OMIM:615803
HP:0000028	Cryptorchidism	150468	CKAP2L	ORPHA:3255
HP:0000028	Cryptorchidism	150468	CKAP2L	OMIM:272440
HP:0000028	Cryptorchidism	10225	CD96	OMIM:211750
HP:0000028	Cryptorchidism	10225	CD96	ORPHA:1308
HP:0000028	Cryptorchidism	9382	COG1	OMIM:611209
HP:0000028	Cryptorchidism	7259	TSPYL1	ORPHA:168593
HP:0000028	Cryptorchidism	7259	TSPYL1	OMIM:608800
HP:0000028	Cryptorchidism	23522	KAT6B	OMIM:606170
HP:0000028	Cryptorchidism	23522	KAT6B	ORPHA:85201
HP:0000028	Cryptorchidism	23522	KAT6B	OMIM:603736
HP:0000028	Cryptorchidism	23522	KAT6B	ORPHA:3047
HP:0000028	Cryptorchidism	92579	G6PC3	OMIM:612541
HP:0000028	Cryptorchidism	412	STS	ORPHA:281090
HP:0000028	Cryptorchidism	412	STS	ORPHA:461
HP:0000028	Cryptorchidism	412	STS	OMIM:308100
HP:0000028	Cryptorchidism	672	BRCA1	ORPHA:84
HP:0000028	Cryptorchidism	10459	MAD2L2	ORPHA:84
HP:0000028	Cryptorchidism	7516	XRCC2	ORPHA:84
HP:0000028	Cryptorchidism	29089	UBE2T	ORPHA:84
HP:0000028	Cryptorchidism	675	BRCA2	ORPHA:84
HP:0000028	Cryptorchidism	55120	FANCL	ORPHA:84
HP:0000028	Cryptorchidism	2177	FANCD2	ORPHA:84
HP:0000028	Cryptorchidism	2177	FANCD2	OMIM:227646
HP:0000028	Cryptorchidism	2175	FANCA	ORPHA:84
HP:0000028	Cryptorchidism	2175	FANCA	OMIM:227650
HP:0000028	Cryptorchidism	2187	FANCB	ORPHA:84
HP:0000028	Cryptorchidism	2187	FANCB	ORPHA:3412
HP:0000028	Cryptorchidism	2176	FANCC	ORPHA:84
HP:0000028	Cryptorchidism	2176	FANCC	OMIM:227645
HP:0000028	Cryptorchidism	2178	FANCE	ORPHA:84
HP:0000028	Cryptorchidism	2178	FANCE	OMIM:600901
HP:0000028	Cryptorchidism	2189	FANCG	ORPHA:84
HP:0000028	Cryptorchidism	5888	RAD51	ORPHA:84
HP:0000028	Cryptorchidism	5889	RAD51C	ORPHA:84
HP:0000028	Cryptorchidism	5889	RAD51C	OMIM:613390
HP:0000028	Cryptorchidism	55159	RFWD3	ORPHA:84
HP:0000028	Cryptorchidism	83990	BRIP1	ORPHA:84
HP:0000028	Cryptorchidism	57697	FANCM	ORPHA:84
HP:0000028	Cryptorchidism	79728	PALB2	ORPHA:84
HP:0000028	Cryptorchidism	2072	ERCC4	ORPHA:84
HP:0000028	Cryptorchidism	2072	ERCC4	ORPHA:90321
HP:0000028	Cryptorchidism	2072	ERCC4	ORPHA:910
HP:0000028	Cryptorchidism	55215	FANCI	ORPHA:84
HP:0000028	Cryptorchidism	546	ATRX	ORPHA:847
HP:0000028	Cryptorchidism	546	ATRX	OMIM:309580
HP:0000028	Cryptorchidism	546	ATRX	OMIM:301040
HP:0000028	Cryptorchidism	23116	TOGARAM1	OMIM:619185
HP:0000028	Cryptorchidism	84823	LMNB2	OMIM:619180
HP:0000028	Cryptorchidism	9896	FIG4	ORPHA:3472
HP:0000028	Cryptorchidism	9896	FIG4	OMIM:216340
HP:0000028	Cryptorchidism	55697	VAC14	ORPHA:3472
HP:0000028	Cryptorchidism	55148	UBR7	OMIM:619189
HP:0000028	Cryptorchidism	23545	ATP6V0A2	OMIM:278250
HP:0000028	Cryptorchidism	23545	ATP6V0A2	ORPHA:2834
HP:0000028	Cryptorchidism	84300	UQCC2	OMIM:615824
HP:0000028	Cryptorchidism	6662	SOX9	ORPHA:251510
HP:0000028	Cryptorchidism	6662	SOX9	ORPHA:2138
HP:0000028	Cryptorchidism	6845	VAMP7	ORPHA:251510
HP:0000028	Cryptorchidism	51741	WWOX	ORPHA:251510
HP:0000028	Cryptorchidism	4214	MAP3K1	ORPHA:251510
HP:0000028	Cryptorchidism	2516	NR5A1	ORPHA:251510
HP:0000028	Cryptorchidism	2516	NR5A1	ORPHA:2138
HP:0000028	Cryptorchidism	7490	WT1	ORPHA:251510
HP:0000028	Cryptorchidism	7490	WT1	ORPHA:3097
HP:0000028	Cryptorchidism	7490	WT1	ORPHA:893
HP:0000028	Cryptorchidism	7490	WT1	OMIM:194072
HP:0000028	Cryptorchidism	58524	DMRT3	ORPHA:251510
HP:0000028	Cryptorchidism	57647	DHX37	ORPHA:251510
HP:0000028	Cryptorchidism	23414	ZFPM2	ORPHA:251510
HP:0000028	Cryptorchidism	23414	ZFPM2	ORPHA:3303
HP:0000028	Cryptorchidism	190	NR0B1	ORPHA:251510
HP:0000028	Cryptorchidism	190	NR0B1	OMIM:300200
HP:0000028	Cryptorchidism	2626	GATA4	ORPHA:251510
HP:0000028	Cryptorchidism	2626	GATA4	ORPHA:251071
HP:0000028	Cryptorchidism	2626	GATA4	ORPHA:3303
HP:0000028	Cryptorchidism	2626	GATA4	OMIM:615542
HP:0000028	Cryptorchidism	1028	CDKN1C	OMIM:614732
HP:0000028	Cryptorchidism	1028	CDKN1C	ORPHA:85173
HP:0000028	Cryptorchidism	1028	CDKN1C	ORPHA:397590
HP:0000028	Cryptorchidism	1028	CDKN1C	OMIM:130650
HP:0000028	Cryptorchidism	83879	CDCA7	OMIM:616910
HP:0000028	Cryptorchidism	79053	ALG8	OMIM:608104
HP:0000028	Cryptorchidism	53834	FGFRL1	OMIM:194190
HP:0000028	Cryptorchidism	1487	CTBP1	OMIM:194190
HP:0000028	Cryptorchidism	1487	CTBP1	ORPHA:280
HP:0000028	Cryptorchidism	3954	LETM1	OMIM:194190
HP:0000028	Cryptorchidism	3954	LETM1	ORPHA:280
HP:0000028	Cryptorchidism	7468	NSD2	OMIM:194190
HP:0000028	Cryptorchidism	7468	NSD2	ORPHA:280
HP:0000028	Cryptorchidism	10815	CPLX1	OMIM:194190
HP:0000028	Cryptorchidism	10815	CPLX1	ORPHA:280
HP:0000028	Cryptorchidism	54496	PRMT7	ORPHA:464288
HP:0000028	Cryptorchidism	165	AEBP1	ORPHA:536532
HP:0000028	Cryptorchidism	165	AEBP1	OMIM:618000
HP:0000028	Cryptorchidism	1588	CYP19A1	ORPHA:91
HP:0000028	Cryptorchidism	9653	HS2ST1	OMIM:619194
HP:0000028	Cryptorchidism	64327	LMBR1	ORPHA:2378
HP:0000028	Cryptorchidism	23345	SYNE1	ORPHA:319332
HP:0000028	Cryptorchidism	23345	SYNE1	OMIM:618484
HP:0000028	Cryptorchidism	89884	LHX4	ORPHA:95496
HP:0000028	Cryptorchidism	55717	WDR11	ORPHA:95496
HP:0000028	Cryptorchidism	55717	WDR11	OMIM:146110
HP:0000028	Cryptorchidism	55717	WDR11	ORPHA:478
HP:0000028	Cryptorchidism	55717	WDR11	ORPHA:432
HP:0000028	Cryptorchidism	55717	WDR11	OMIM:614858
HP:0000028	Cryptorchidism	6091	ROBO1	ORPHA:95496
HP:0000028	Cryptorchidism	50937	CDON	ORPHA:95496
HP:0000028	Cryptorchidism	23432	GPR161	ORPHA:95496
HP:0000028	Cryptorchidism	11128	POLR3A	OMIM:264090
HP:0000028	Cryptorchidism	11128	POLR3A	ORPHA:3455
HP:0000028	Cryptorchidism	4094	MAF	ORPHA:1272
HP:0000028	Cryptorchidism	10436	EMG1	ORPHA:1270
HP:0000028	Cryptorchidism	81887	LAS1L	ORPHA:3459
HP:0000028	Cryptorchidism	81887	LAS1L	OMIM:309585
HP:0000028	Cryptorchidism	55869	HDAC8	ORPHA:3459
HP:0000028	Cryptorchidism	55869	HDAC8	ORPHA:199
HP:0000028	Cryptorchidism	55869	HDAC8	OMIM:300882
HP:0000028	Cryptorchidism	2255	FGF10	ORPHA:2363
HP:0000028	Cryptorchidism	5422	POLA1	ORPHA:163976
HP:0000028	Cryptorchidism	6638	SNRPN	ORPHA:98754
HP:0000028	Cryptorchidism	6638	SNRPN	ORPHA:177904
HP:0000028	Cryptorchidism	6638	SNRPN	ORPHA:177901
HP:0000028	Cryptorchidism	4692	NDN	ORPHA:98754
HP:0000028	Cryptorchidism	4692	NDN	ORPHA:177904
HP:0000028	Cryptorchidism	4692	NDN	ORPHA:177901
HP:0000028	Cryptorchidism	4948	OCA2	ORPHA:98754
HP:0000028	Cryptorchidism	4948	OCA2	ORPHA:177904
HP:0000028	Cryptorchidism	4948	OCA2	ORPHA:177901
HP:0000028	Cryptorchidism	10984	KCNQ1OT1	ORPHA:2128
HP:0000028	Cryptorchidism	10984	KCNQ1OT1	OMIM:130650
HP:0000028	Cryptorchidism	283120	H19	ORPHA:2128
HP:0000028	Cryptorchidism	2535	FZD2	OMIM:164745
HP:0000028	Cryptorchidism	2535	FZD2	ORPHA:3107
HP:0000028	Cryptorchidism	2535	FZD2	ORPHA:93328
HP:0000028	Cryptorchidism	2121	EVC	OMIM:225500
HP:0000028	Cryptorchidism	2121	EVC	ORPHA:289
HP:0000028	Cryptorchidism	132884	EVC2	OMIM:225500
HP:0000028	Cryptorchidism	132884	EVC2	ORPHA:289
HP:0000028	Cryptorchidism	6949	TCOF1	OMIM:154500
HP:0000028	Cryptorchidism	6949	TCOF1	ORPHA:861
HP:0000028	Cryptorchidism	6611	SMS	OMIM:309583
HP:0000028	Cryptorchidism	6611	SMS	ORPHA:3063
HP:0000028	Cryptorchidism	2146	EZH2	OMIM:277590
HP:0000028	Cryptorchidism	2146	EZH2	ORPHA:3447
HP:0000028	Cryptorchidism	147372	CCBE1	OMIM:235510
HP:0000028	Cryptorchidism	701	BUB1B	OMIM:257300
HP:0000028	Cryptorchidism	8726	EED	ORPHA:3447
HP:0000028	Cryptorchidism	8726	EED	OMIM:617561
HP:0000028	Cryptorchidism	6567	SLC16A2	ORPHA:59
HP:0000028	Cryptorchidism	55023	PHIP	ORPHA:589905
HP:0000028	Cryptorchidism	55023	PHIP	OMIM:617991
HP:0000028	Cryptorchidism	29123	ANKRD11	OMIM:148050
HP:0000028	Cryptorchidism	29123	ANKRD11	ORPHA:2332
HP:0000028	Cryptorchidism	29123	ANKRD11	ORPHA:261250
HP:0000028	Cryptorchidism	7319	UBE2A	ORPHA:163956
HP:0000028	Cryptorchidism	4089	SMAD4	ORPHA:2588
HP:0000028	Cryptorchidism	4089	SMAD4	OMIM:139210
HP:0000028	Cryptorchidism	10075	HUWE1	OMIM:309590
HP:0000028	Cryptorchidism	23028	KDM1A	OMIM:616728
HP:0000028	Cryptorchidism	23028	KDM1A	ORPHA:477993
HP:0000028	Cryptorchidism	55593	OTUD5	OMIM:301056
HP:0000028	Cryptorchidism	4854	NOTCH3	OMIM:130720
HP:0000028	Cryptorchidism	4854	NOTCH3	ORPHA:2789
HP:0000028	Cryptorchidism	4893	NRAS	OMIM:613224
HP:0000028	Cryptorchidism	4893	NRAS	ORPHA:648
HP:0000028	Cryptorchidism	998	CDC42	OMIM:616737
HP:0000028	Cryptorchidism	10982	MAPRE2	OMIM:616734
HP:0000028	Cryptorchidism	10982	MAPRE2	ORPHA:2505
HP:0000028	Cryptorchidism	2891	GRIA2	OMIM:618917
HP:0000028	Cryptorchidism	10560	SLC19A2	OMIM:249270
HP:0000028	Cryptorchidism	6597	SMARCA4	ORPHA:1465
HP:0000028	Cryptorchidism	6598	SMARCB1	ORPHA:1465
HP:0000028	Cryptorchidism	6659	SOX4	ORPHA:1465
HP:0000028	Cryptorchidism	8289	ARID1A	ORPHA:1465
HP:0000028	Cryptorchidism	8289	ARID1A	OMIM:614607
HP:0000028	Cryptorchidism	5977	DPF2	ORPHA:1465
HP:0000028	Cryptorchidism	6602	SMARCD1	ORPHA:1465
HP:0000028	Cryptorchidism	57492	ARID1B	ORPHA:1465
HP:0000028	Cryptorchidism	57492	ARID1B	OMIM:135900
HP:0000028	Cryptorchidism	196528	ARID2	ORPHA:1465
HP:0000028	Cryptorchidism	6605	SMARCE1	ORPHA:1465
HP:0000028	Cryptorchidism	6664	SOX11	ORPHA:1465
HP:0000028	Cryptorchidism	134701	RIPPLY2	ORPHA:2311
HP:0000028	Cryptorchidism	10683	DLL3	ORPHA:2311
HP:0000028	Cryptorchidism	3955	LFNG	ORPHA:2311
HP:0000028	Cryptorchidism	84667	HES7	ORPHA:2311
HP:0000028	Cryptorchidism	145873	MESP2	ORPHA:2311
HP:0000028	Cryptorchidism	259232	NALCN	OMIM:615419
HP:0000028	Cryptorchidism	259232	NALCN	ORPHA:2053
HP:0000028	Cryptorchidism	81620	CDT1	ORPHA:2554
HP:0000028	Cryptorchidism	81620	CDT1	OMIM:613804
HP:0000028	Cryptorchidism	5000	ORC4	ORPHA:2554
HP:0000028	Cryptorchidism	23594	ORC6	ORPHA:2554
HP:0000028	Cryptorchidism	23594	ORC6	OMIM:613803
HP:0000028	Cryptorchidism	990	CDC6	ORPHA:2554
HP:0000028	Cryptorchidism	990	CDC6	OMIM:613805
HP:0000028	Cryptorchidism	51053	GMNN	ORPHA:2554
HP:0000028	Cryptorchidism	51053	GMNN	OMIM:616835
HP:0000028	Cryptorchidism	1000	CDH2	OMIM:618929
HP:0000028	Cryptorchidism	79576	NKAP	OMIM:301039
HP:0000028	Cryptorchidism	25	ABL1	OMIM:617602
HP:0000028	Cryptorchidism	545	ATR	OMIM:210600
HP:0000028	Cryptorchidism	128637	TBC1D20	OMIM:615663
HP:0000028	Cryptorchidism	128637	TBC1D20	ORPHA:2510
HP:0000028	Cryptorchidism	2313	FLI1	ORPHA:2308
HP:0000028	Cryptorchidism	60	ACTB	OMIM:243310
HP:0000028	Cryptorchidism	23476	BRD4	ORPHA:199
HP:0000028	Cryptorchidism	9126	SMC3	ORPHA:199
HP:0000028	Cryptorchidism	9126	SMC3	OMIM:610759
HP:0000028	Cryptorchidism	8243	SMC1A	ORPHA:199
HP:0000028	Cryptorchidism	5885	RAD21	ORPHA:199
HP:0000028	Cryptorchidism	64840	PORCN	OMIM:305600
HP:0000028	Cryptorchidism	10664	CTCF	ORPHA:363611
HP:0000028	Cryptorchidism	10664	CTCF	OMIM:615502
HP:0000028	Cryptorchidism	157680	VPS13B	ORPHA:193
HP:0000028	Cryptorchidism	117581	TWIST2	OMIM:209885
HP:0000028	Cryptorchidism	25914	RTTN	ORPHA:468631
HP:0000028	Cryptorchidism	55617	TASP1	OMIM:618950
HP:0000028	Cryptorchidism	28957	MRPS28	OMIM:618958
HP:0000028	Cryptorchidism	652	BMP4	ORPHA:139471
HP:0000028	Cryptorchidism	652	BMP4	OMIM:607932
HP:0000028	Cryptorchidism	153241	CEP120	OMIM:616300
HP:0000028	Cryptorchidism	10274	STAG1	OMIM:617635
HP:0000028	Cryptorchidism	10274	STAG1	ORPHA:502434
HP:0000028	Cryptorchidism	1748	DLX4	OMIM:616788
HP:0000028	Cryptorchidism	5879	RAC1	ORPHA:500159
HP:0000028	Cryptorchidism	23389	MED13L	OMIM:616789
HP:0000028	Cryptorchidism	23389	MED13L	ORPHA:369891
HP:0000028	Cryptorchidism	4621	MYH3	ORPHA:2990
HP:0000028	Cryptorchidism	4621	MYH3	OMIM:193700
HP:0000028	Cryptorchidism	4621	MYH3	ORPHA:2053
HP:0000028	Cryptorchidism	1146	CHRNG	ORPHA:2990
HP:0000028	Cryptorchidism	1146	CHRNG	OMIM:265000
HP:0000028	Cryptorchidism	25782	RAB3GAP2	ORPHA:2510
HP:0000028	Cryptorchidism	25782	RAB3GAP2	OMIM:212720
HP:0000028	Cryptorchidism	25782	RAB3GAP2	ORPHA:1387
HP:0000028	Cryptorchidism	25782	RAB3GAP2	OMIM:614225
HP:0000028	Cryptorchidism	22931	RAB18	ORPHA:2510
HP:0000028	Cryptorchidism	5573	PRKAR1A	ORPHA:280651
HP:0000028	Cryptorchidism	5573	PRKAR1A	OMIM:101800
HP:0000028	Cryptorchidism	5573	PRKAR1A	ORPHA:950
HP:0000028	Cryptorchidism	5144	PDE4D	ORPHA:280651
HP:0000028	Cryptorchidism	5144	PDE4D	ORPHA:439822
HP:0000028	Cryptorchidism	5144	PDE4D	ORPHA:950
HP:0000028	Cryptorchidism	5144	PDE4D	OMIM:614613
HP:0000028	Cryptorchidism	5087	PBX1	OMIM:617641
HP:0000028	Cryptorchidism	5087	PBX1	ORPHA:97362
HP:0000028	Cryptorchidism	4281	MID1	ORPHA:2745
HP:0000028	Cryptorchidism	4281	MID1	OMIM:300000
HP:0000028	Cryptorchidism	203068	TUBB	ORPHA:2505
HP:0000028	Cryptorchidism	6655	SOS2	OMIM:616559
HP:0000028	Cryptorchidism	6655	SOS2	ORPHA:648
HP:0000028	Cryptorchidism	246329	STAC3	OMIM:255995
HP:0000028	Cryptorchidism	246329	STAC3	ORPHA:168572
HP:0000028	Cryptorchidism	64682	ANAPC1	ORPHA:221008
HP:0000028	Cryptorchidism	7528	YY1	ORPHA:506358
HP:0000028	Cryptorchidism	7528	YY1	OMIM:617557
HP:0000028	Cryptorchidism	23141	ANKLE2	OMIM:616681
HP:0000028	Cryptorchidism	8294	H4C9	OMIM:619951
HP:0000028	Cryptorchidism	6016	RIT1	OMIM:615355
HP:0000028	Cryptorchidism	6016	RIT1	ORPHA:648
HP:0000028	Cryptorchidism	4204	MECP2	ORPHA:1762
HP:0000028	Cryptorchidism	4204	MECP2	OMIM:300260
HP:0000028	Cryptorchidism	6938	TCF12	OMIM:619718
HP:0000028	Cryptorchidism	3008	H1-4	OMIM:617537
HP:0000028	Cryptorchidism	1736	DKC1	OMIM:305000
HP:0000028	Cryptorchidism	5830	PEX5	OMIM:214110
HP:0000028	Cryptorchidism	5830	PEX5	ORPHA:912
HP:0000028	Cryptorchidism	64220	STRA6	OMIM:601186
HP:0000028	Cryptorchidism	64220	STRA6	ORPHA:2470
HP:0000028	Cryptorchidism	2067	ERCC1	ORPHA:90322
HP:0000028	Cryptorchidism	1723	DHODH	OMIM:263750
HP:0000028	Cryptorchidism	1646	AKR1C2	OMIM:614279
HP:0000028	Cryptorchidism	1109	AKR1C4	OMIM:614279
HP:0000028	Cryptorchidism	1528	CYB5A	ORPHA:90796
HP:0000028	Cryptorchidism	129563	DIS3L2	ORPHA:2849
HP:0000028	Cryptorchidism	129563	DIS3L2	OMIM:267000
HP:0000028	Cryptorchidism	23384	SPECC1L	ORPHA:1519
HP:0000028	Cryptorchidism	3284	HSD3B2	ORPHA:90791
HP:0000028	Cryptorchidism	3284	HSD3B2	OMIM:201810
HP:0000028	Cryptorchidism	5189	PEX1	OMIM:214100
HP:0000028	Cryptorchidism	5189	PEX1	ORPHA:912
HP:0000028	Cryptorchidism	815	CAMK2A	OMIM:617798
HP:0000028	Cryptorchidism	4853	NOTCH2	OMIM:102500
HP:0000028	Cryptorchidism	1183	CLCN4	ORPHA:485350
HP:0000028	Cryptorchidism	64359	NXN	ORPHA:1507
HP:0000028	Cryptorchidism	4920	ROR2	ORPHA:1507
HP:0000028	Cryptorchidism	4920	ROR2	OMIM:268310
HP:0000028	Cryptorchidism	7020	TFAP2A	OMIM:113620
HP:0000028	Cryptorchidism	5566	PRKACA	ORPHA:289
HP:0000028	Cryptorchidism	5567	PRKACB	ORPHA:289
HP:0000028	Cryptorchidism	2735	GLI1	ORPHA:289
HP:0000028	Cryptorchidism	51626	DYNC2LI1	ORPHA:289
HP:0000028	Cryptorchidism	54872	PIGG	ORPHA:280
HP:0000028	Cryptorchidism	7469	NELFA	ORPHA:280
HP:0000028	Cryptorchidism	54968	TMEM70	OMIM:614052
HP:0000028	Cryptorchidism	54968	TMEM70	ORPHA:1194
HP:0000028	Cryptorchidism	1656	DDX6	OMIM:618653
HP:0000028	Cryptorchidism	5424	POLD1	OMIM:615381
HP:0000028	Cryptorchidism	57178	ZMIZ1	OMIM:618659
HP:0000028	Cryptorchidism	558	AXL	OMIM:146110
HP:0000028	Cryptorchidism	2798	GNRHR	OMIM:146110
HP:0000028	Cryptorchidism	2798	GNRHR	ORPHA:432
HP:0000028	Cryptorchidism	2796	GNRH1	OMIM:146110
HP:0000028	Cryptorchidism	2796	GNRH1	ORPHA:432
HP:0000028	Cryptorchidism	2796	GNRH1	OMIM:614841
HP:0000028	Cryptorchidism	10011	SRA1	OMIM:146110
HP:0000028	Cryptorchidism	8822	FGF17	OMIM:146110
HP:0000028	Cryptorchidism	8822	FGF17	ORPHA:478
HP:0000028	Cryptorchidism	8822	FGF17	ORPHA:432
HP:0000028	Cryptorchidism	1848	DUSP6	OMIM:146110
HP:0000028	Cryptorchidism	1848	DUSP6	ORPHA:478
HP:0000028	Cryptorchidism	1848	DUSP6	ORPHA:432
HP:0000028	Cryptorchidism	81848	SPRY4	OMIM:146110
HP:0000028	Cryptorchidism	81848	SPRY4	ORPHA:478
HP:0000028	Cryptorchidism	81848	SPRY4	ORPHA:432
HP:0000028	Cryptorchidism	285025	CCDC141	OMIM:146110
HP:0000028	Cryptorchidism	285025	CCDC141	ORPHA:478
HP:0000028	Cryptorchidism	389549	FEZF1	OMIM:146110
HP:0000028	Cryptorchidism	389549	FEZF1	OMIM:616030
HP:0000028	Cryptorchidism	389549	FEZF1	ORPHA:478
HP:0000028	Cryptorchidism	93627	TBCK	ORPHA:488632
HP:0000028	Cryptorchidism	2783	GNB2	OMIM:619503
HP:0000028	Cryptorchidism	200734	SPRED2	OMIM:619745
HP:0000028	Cryptorchidism	200734	SPRED2	ORPHA:648
HP:0000028	Cryptorchidism	54888	NSUN2	ORPHA:235
HP:0000028	Cryptorchidism	1947	EFNB1	OMIM:304110
HP:0000028	Cryptorchidism	253738	EBF3	OMIM:617330
HP:0000028	Cryptorchidism	1182	CLCN3	OMIM:619512
HP:0000028	Cryptorchidism	8879	SGPL1	OMIM:617575
HP:0000028	Cryptorchidism	5792	PTPRF	OMIM:616001
HP:0000028	Cryptorchidism	286	ANK1	ORPHA:251066
HP:0000028	Cryptorchidism	145258	GSC	OMIM:602471
HP:0000028	Cryptorchidism	2312	FLG	ORPHA:461
HP:0000028	Cryptorchidism	7750	ZMYM2	OMIM:619522
HP:0000028	Cryptorchidism	59336	PRDM13	OMIM:619761
HP:0000028	Cryptorchidism	9993	DGCR2	OMIM:192430
HP:0000028	Cryptorchidism	8220	ESS2	OMIM:192430
HP:0000028	Cryptorchidism	8214	DGCR6	OMIM:192430
HP:0000028	Cryptorchidism	54487	DGCR8	OMIM:192430
HP:0000028	Cryptorchidism	6925	TCF4	OMIM:610954
HP:0000028	Cryptorchidism	6925	TCF4	ORPHA:2896
HP:0000028	Cryptorchidism	2316	FLNA	OMIM:304120
HP:0000028	Cryptorchidism	5286	PIK3C2A	OMIM:618440
HP:0000028	Cryptorchidism	7476	WNT7A	OMIM:276820
HP:0000028	Cryptorchidism	7476	WNT7A	ORPHA:2879
HP:0000028	Cryptorchidism	833	CARS1	ORPHA:33364
HP:0000028	Cryptorchidism	2068	ERCC2	ORPHA:33364
HP:0000028	Cryptorchidism	2068	ERCC2	ORPHA:910
HP:0000028	Cryptorchidism	7737	RNF113A	ORPHA:33364
HP:0000028	Cryptorchidism	136647	MPLKIP	ORPHA:33364
HP:0000028	Cryptorchidism	6897	TARS1	ORPHA:33364
HP:0000028	Cryptorchidism	2071	ERCC3	ORPHA:33364
HP:0000028	Cryptorchidism	2071	ERCC3	ORPHA:910
HP:0000028	Cryptorchidism	2961	GTF2E2	ORPHA:33364
HP:0000028	Cryptorchidism	79087	ALG12	ORPHA:79324
HP:0000028	Cryptorchidism	79087	ALG12	OMIM:607143
HP:0000028	Cryptorchidism	3730	ANOS1	OMIM:308700
HP:0000028	Cryptorchidism	3730	ANOS1	ORPHA:478
HP:0000028	Cryptorchidism	8295	TRRAP	OMIM:618454
HP:0000028	Cryptorchidism	6878	TAF6	OMIM:617126
HP:0000028	Cryptorchidism	6654	SOS1	OMIM:610733
HP:0000028	Cryptorchidism	6654	SOS1	ORPHA:648
HP:0000028	Cryptorchidism	10371	SEMA3A	ORPHA:478
HP:0000028	Cryptorchidism	10371	SEMA3A	OMIM:614897
HP:0000028	Cryptorchidism	23767	FLRT3	ORPHA:478
HP:0000028	Cryptorchidism	79625	NDNF	ORPHA:478
HP:0000028	Cryptorchidism	79625	NDNF	OMIM:618841
HP:0000028	Cryptorchidism	2253	FGF8	ORPHA:478
HP:0000028	Cryptorchidism	2253	FGF8	ORPHA:432
HP:0000028	Cryptorchidism	2253	FGF8	OMIM:612702
HP:0000028	Cryptorchidism	1630	DCC	ORPHA:478
HP:0000028	Cryptorchidism	54756	IL17RD	ORPHA:478
HP:0000028	Cryptorchidism	6870	TACR3	ORPHA:478
HP:0000028	Cryptorchidism	6870	TACR3	ORPHA:432
HP:0000028	Cryptorchidism	6870	TACR3	OMIM:614840
HP:0000028	Cryptorchidism	9394	HS6ST1	ORPHA:478
HP:0000028	Cryptorchidism	9394	HS6ST1	ORPHA:432
HP:0000028	Cryptorchidism	9394	HS6ST1	OMIM:614880
HP:0000028	Cryptorchidism	26012	NSMF	ORPHA:432
HP:0000028	Cryptorchidism	84634	KISS1R	ORPHA:432
HP:0000028	Cryptorchidism	84634	KISS1R	OMIM:614837
HP:0000028	Cryptorchidism	6866	TAC3	ORPHA:432
HP:0000028	Cryptorchidism	3814	KISS1	ORPHA:432
HP:0000028	Cryptorchidism	5076	PAX2	ORPHA:97362
HP:0000028	Cryptorchidism	10466	COG5	ORPHA:263487
HP:0000028	Cryptorchidism	9759	HDAC4	OMIM:619797
HP:0000028	Cryptorchidism	6477	SIAH1	OMIM:619314
HP:0000028	Cryptorchidism	51728	POLR3K	OMIM:619310
HP:0000028	Cryptorchidism	6885	MAP3K7	OMIM:617137
HP:0000028	Cryptorchidism	23314	SATB2	ORPHA:251028
HP:0000028	Cryptorchidism	26275	HIBCH	ORPHA:88639
HP:0000028	Cryptorchidism	29998	BICRA	OMIM:619325
HP:0000028	Cryptorchidism	1363	CPE	OMIM:619326
HP:0000028	Cryptorchidism	2710	GK	OMIM:307030
HP:0000028	Cryptorchidism	84892	POMGNT2	ORPHA:899
HP:0000028	Cryptorchidism	148789	B3GALNT2	ORPHA:899
HP:0000028	Cryptorchidism	1282	COL4A1	ORPHA:899
HP:0000028	Cryptorchidism	729920	CRPPA	ORPHA:899
HP:0000028	Cryptorchidism	10329	RXYLT1	ORPHA:899
HP:0000028	Cryptorchidism	1605	DAG1	ORPHA:899
HP:0000028	Cryptorchidism	11041	B4GAT1	ORPHA:899
HP:0000028	Cryptorchidism	84197	POMK	ORPHA:899
HP:0000028	Cryptorchidism	55624	POMGNT1	ORPHA:899
HP:0000028	Cryptorchidism	79068	FTO	OMIM:612938
HP:0000028	Cryptorchidism	4763	NF1	OMIM:601321
HP:0000028	Cryptorchidism	4763	NF1	ORPHA:638
HP:0000028	Cryptorchidism	170302	ARX	ORPHA:452
HP:0000028	Cryptorchidism	170302	ARX	OMIM:300004
HP:0000028	Cryptorchidism	10082	GPC6	OMIM:258315
HP:0000028	Cryptorchidism	10082	GPC6	ORPHA:93329
HP:0000028	Cryptorchidism	1108	CHD4	OMIM:617159
HP:0000028	Cryptorchidism	3265	HRAS	ORPHA:3071
HP:0000028	Cryptorchidism	3265	HRAS	ORPHA:2874
HP:0000028	Cryptorchidism	10524	KAT5	OMIM:619103
HP:0000028	Cryptorchidism	372	ARCN1	OMIM:617164
HP:0000028	Cryptorchidism	1822	ATN1	OMIM:618494
HP:0000028	Cryptorchidism	26040	SETBP1	OMIM:616078
HP:0000028	Cryptorchidism	2475	MTOR	ORPHA:457485
HP:0000028	Cryptorchidism	2475	MTOR	OMIM:616638
HP:0000028	Cryptorchidism	51715	RAB23	ORPHA:65759
HP:0000028	Cryptorchidism	51715	RAB23	OMIM:201000
HP:0000028	Cryptorchidism	4990	SIX6	OMIM:206900
HP:0000028	Cryptorchidism	9791	PTDSS1	OMIM:151050
HP:0000028	Cryptorchidism	9791	PTDSS1	ORPHA:2658
HP:0000028	Cryptorchidism	3975	LHX1	ORPHA:261265
HP:0000028	Cryptorchidism	6928	HNF1B	ORPHA:261265
HP:0000028	Cryptorchidism	29895	MYL11	OMIM:619110
HP:0000028	Cryptorchidism	10847	SRCAP	OMIM:619595
HP:0000028	Cryptorchidism	10847	SRCAP	ORPHA:2044
HP:0000028	Cryptorchidism	10847	SRCAP	OMIM:136140
HP:0000028	Cryptorchidism	145173	B3GLCT	OMIM:261540
HP:0000028	Cryptorchidism	145173	B3GLCT	ORPHA:709
HP:0000028	Cryptorchidism	8468	FKBP6	OMIM:620103
HP:0000028	Cryptorchidism	8468	FKBP6	ORPHA:904
HP:0000028	Cryptorchidism	1836	SLC26A2	ORPHA:628
HP:0000028	Cryptorchidism	4534	MTM1	OMIM:310400
HP:0000028	Cryptorchidism	4534	MTM1	ORPHA:456328
HP:0000028	Cryptorchidism	84172	POLR1B	ORPHA:861
HP:0000028	Cryptorchidism	9533	POLR1C	ORPHA:861
HP:0000028	Cryptorchidism	51082	POLR1D	ORPHA:861
HP:0000028	Cryptorchidism	90416	CCDC32	OMIM:619123
HP:0000028	Cryptorchidism	51339	DACT1	ORPHA:857
HP:0000028	Cryptorchidism	22995	CEP152	OMIM:613823
HP:0000028	Cryptorchidism	5080	PAX6	ORPHA:893
HP:0000028	Cryptorchidism	5080	PAX6	OMIM:194072
HP:0000028	Cryptorchidism	627	BDNF	ORPHA:893
HP:0000028	Cryptorchidism	57020	VPS35L	OMIM:619135
HP:0000028	Cryptorchidism	2332	FMR1	ORPHA:261483
HP:0000028	Cryptorchidism	1984	EIF5A	OMIM:619376
HP:0000028	Cryptorchidism	2733	GLE1	OMIM:611890
HP:0000028	Cryptorchidism	1583	CYP11A1	ORPHA:168558
HP:0000028	Cryptorchidism	1583	CYP11A1	ORPHA:289548
HP:0000028	Cryptorchidism	22800	RRAS2	ORPHA:648
HP:0000028	Cryptorchidism	867	CBL	ORPHA:648
HP:0000028	Cryptorchidism	867	CBL	OMIM:613563
HP:0000028	Cryptorchidism	6237	RRAS	ORPHA:648
HP:0000028	Cryptorchidism	22808	MRAS	ORPHA:648
HP:0000028	Cryptorchidism	3845	KRAS	ORPHA:648
HP:0000028	Cryptorchidism	3845	KRAS	ORPHA:1340
HP:0000028	Cryptorchidism	3845	KRAS	OMIM:609942
HP:0000028	Cryptorchidism	5922	RASA2	ORPHA:648
HP:0000028	Cryptorchidism	59	ACTA2	OMIM:613834
HP:0000028	Cryptorchidism	4693	NDP	ORPHA:649
HP:0000028	Cryptorchidism	3239	HOXD13	ORPHA:887
HP:0000028	Cryptorchidism	221692	PHACTR1	OMIM:618298
HP:0000028	Cryptorchidism	219844	HYLS1	ORPHA:2189
HP:0000028	Cryptorchidism	4713	NDUFB7	OMIM:620135
HP:0000028	Cryptorchidism	5605	MAP2K2	ORPHA:638
HP:0000028	Cryptorchidism	5605	MAP2K2	ORPHA:1340
HP:0000028	Cryptorchidism	9325	TRIP4	ORPHA:486815
HP:0000028	Cryptorchidism	83483	PLVAP	OMIM:618183
HP:0000028	Cryptorchidism	341640	FREM2	ORPHA:2052
HP:0000028	Cryptorchidism	23426	GRIP1	ORPHA:2052
HP:0000028	Cryptorchidism	10046	MAMLD1	ORPHA:456328
HP:0000028	Cryptorchidism	10046	MAMLD1	ORPHA:95706
HP:0000028	Cryptorchidism	83700	JAM3	OMIM:613730
HP:0000028	Cryptorchidism	23556	PIGN	ORPHA:2059
HP:0000028	Cryptorchidism	2904	GRIN2B	OMIM:613970
HP:0000028	Cryptorchidism	8854	ALDH1A2	OMIM:620025
HP:0000028	Cryptorchidism	55777	MBD5	ORPHA:228402
HP:0000028	Cryptorchidism	3636	INPPL1	ORPHA:3144
HP:0000028	Cryptorchidism	23169	SLC35D1	ORPHA:3144
HP:0000028	Cryptorchidism	8496	PPFIBP1	OMIM:620024
HP:0000028	Cryptorchidism	4983	OPHN1	OMIM:300486
HP:0000028	Cryptorchidism	22858	CILK1	OMIM:612651
HP:0000028	Cryptorchidism	6926	TBX3	ORPHA:3138
HP:0000028	Cryptorchidism	3703	STT3A	ORPHA:370921
HP:0000028	Cryptorchidism	26277	TINF2	OMIM:613990
HP:0000028	Cryptorchidism	26053	AUTS2	ORPHA:352490
HP:0000028	Cryptorchidism	5826	ABCD4	OMIM:614857
HP:0000028	Cryptorchidism	26227	PHGDH	OMIM:256520
HP:0000028	Cryptorchidism	1857	DVL3	ORPHA:3107
HP:0000028	Cryptorchidism	1857	DVL3	OMIM:616894
HP:0000028	Cryptorchidism	5828	PEX2	OMIM:614866
HP:0000028	Cryptorchidism	5828	PEX2	ORPHA:912
HP:0000028	Cryptorchidism	6804	STX1A	ORPHA:904
HP:0000028	Cryptorchidism	7461	CLIP2	ORPHA:904
HP:0000028	Cryptorchidism	84277	DNAJC30	ORPHA:904
HP:0000028	Cryptorchidism	5982	RFC2	ORPHA:904
HP:0000028	Cryptorchidism	2969	GTF2I	ORPHA:904
HP:0000028	Cryptorchidism	3984	LIMK1	ORPHA:904
HP:0000028	Cryptorchidism	9569	GTF2IRD1	ORPHA:904
HP:0000028	Cryptorchidism	155382	VPS37D	ORPHA:904
HP:0000028	Cryptorchidism	155368	METTL27	ORPHA:904
HP:0000028	Cryptorchidism	114049	BUD23	ORPHA:904
HP:0000028	Cryptorchidism	7458	EIF4H	ORPHA:904
HP:0000028	Cryptorchidism	84163	GTF2IRD2	ORPHA:904
HP:0000028	Cryptorchidism	9275	BCL7B	ORPHA:904
HP:0000028	Cryptorchidism	26608	TBL2	ORPHA:904
HP:0000028	Cryptorchidism	653361	NCF1	ORPHA:904
HP:0000028	Cryptorchidism	135886	TMEM270	ORPHA:904
HP:0000028	Cryptorchidism	51085	MLXIPL	ORPHA:904
HP:0000028	Cryptorchidism	9031	BAZ1B	ORPHA:904
HP:0000028	Cryptorchidism	2006	ELN	ORPHA:904
HP:0000028	Cryptorchidism	157570	ESCO2	ORPHA:3103
HP:0000028	Cryptorchidism	157570	ESCO2	OMIM:268300
HP:0000028	Cryptorchidism	10236	HNRNPR	OMIM:620073
HP:0000028	Cryptorchidism	5700	PSMC1	OMIM:620071
HP:0000028	Cryptorchidism	5594	MAPK1	OMIM:619087
HP:0000028	Cryptorchidism	5324	PLAG1	ORPHA:397590
HP:0000028	Cryptorchidism	8091	HMGA2	ORPHA:397590
HP:0000028	Cryptorchidism	25802	LMOD1	ORPHA:2241
HP:0000028	Cryptorchidism	4629	MYH11	ORPHA:2241
HP:0000028	Cryptorchidism	72	ACTG2	ORPHA:2241
HP:0000028	Cryptorchidism	4638	MYLK	ORPHA:2241
HP:0000028	Cryptorchidism	5832	ALDH18A1	OMIM:219150
HP:0000028	Cryptorchidism	84919	PPP1R15B	OMIM:616817
HP:0000028	Cryptorchidism	51244	CCDC174	OMIM:616816
HP:0000028	Cryptorchidism	3187	HNRNPH1	OMIM:620083
HP:0000028	Cryptorchidism	5915	RARB	ORPHA:2470
HP:0000028	Cryptorchidism	5915	RARB	OMIM:615524
HP:0000028	Cryptorchidism	254065	BRWD3	OMIM:300659
HP:0000028	Cryptorchidism	3784	KCNQ1	OMIM:130650
HP:0000028	Cryptorchidism	50945	TBX22	ORPHA:921
HP:0000028	Cryptorchidism	5631	PRPS1	OMIM:300661
HP:0000028	Cryptorchidism	2200	FBN1	ORPHA:2462
HP:0000028	Cryptorchidism	55670	PEX26	ORPHA:912
HP:0000028	Cryptorchidism	5824	PEX19	ORPHA:912
HP:0000028	Cryptorchidism	8504	PEX3	ORPHA:912
HP:0000028	Cryptorchidism	8799	PEX11B	ORPHA:912
HP:0000028	Cryptorchidism	9409	PEX16	ORPHA:912
HP:0000028	Cryptorchidism	5190	PEX6	ORPHA:912
HP:0000028	Cryptorchidism	5193	PEX12	ORPHA:912
HP:0000028	Cryptorchidism	5194	PEX13	ORPHA:912
HP:0000028	Cryptorchidism	5195	PEX14	ORPHA:912
HP:0000028	Cryptorchidism	5192	PEX10	ORPHA:912
HP:0000028	Cryptorchidism	7507	XPA	ORPHA:910
HP:0000028	Cryptorchidism	7508	XPC	ORPHA:910
HP:0000028	Cryptorchidism	1643	DDB2	ORPHA:910
HP:0000028	Cryptorchidism	2073	ERCC5	ORPHA:910
HP:0000028	Cryptorchidism	100151683	RNU4ATAC	OMIM:210710
HP:0000028	Cryptorchidism	100151683	RNU4ATAC	ORPHA:2636
HP:0000028	Cryptorchidism	8626	TP63	OMIM:604292
HP:0000028	Cryptorchidism	7473	WNT3	ORPHA:3301
HP:0000028	Cryptorchidism	340419	RSPO2	ORPHA:3301
HP:0000028	Cryptorchidism	274	BIN1	ORPHA:169189
HP:0000028	Cryptorchidism	64419	MTMR14	ORPHA:169189
HP:0000028	Cryptorchidism	4618	MYF6	ORPHA:169189
HP:0000028	Cryptorchidism	1785	DNM2	ORPHA:169189
HP:0000028	Cryptorchidism	2702	GJA5	ORPHA:3303
HP:0000028	Cryptorchidism	1482	NKX2-5	ORPHA:3303
HP:0000028	Cryptorchidism	137814	NKX2-6	ORPHA:3303
HP:0000028	Cryptorchidism	3791	KDR	ORPHA:3303
HP:0000028	Cryptorchidism	2627	GATA6	ORPHA:3303
HP:0000028	Cryptorchidism	2657	GDF1	ORPHA:3303
HP:0000028	Cryptorchidism	182	JAG1	ORPHA:3303
HP:0000028	Cryptorchidism	140628	GATA5	ORPHA:3303
HP:0000028	Cryptorchidism	2324	FLT4	ORPHA:3303
HP:0000028	Cryptorchidism	10370	CITED2	ORPHA:3303
HP:0000028	Cryptorchidism	2623	GATA1	ORPHA:67044
HP:0000028	Cryptorchidism	113179	ADAT3	ORPHA:363528
HP:0000028	Cryptorchidism	55784	MCTP2	ORPHA:1596
HP:0000028	Cryptorchidism	5831	PYCR1	OMIM:614438
HP:0000028	Cryptorchidism	4297	KMT2A	OMIM:605130
HP:0000028	Cryptorchidism	2592	GALT	ORPHA:79239
HP:0000028	Cryptorchidism	10265	IRX5	OMIM:611174
HP:0000028	Cryptorchidism	7874	USP7	OMIM:616863
HP:0000028	Cryptorchidism	7874	USP7	ORPHA:500055
HP:0000028	Cryptorchidism	5604	MAP2K1	ORPHA:1340
HP:0000028	Cryptorchidism	5604	MAP2K1	OMIM:163950
HP:0000028	Cryptorchidism	79633	FAT4	OMIM:615546
HP:0000028	Cryptorchidism	7074	TIAM1	OMIM:619908
HP:0000028	Cryptorchidism	29957	SLC25A24	OMIM:612289
HP:0000028	Cryptorchidism	4659	PPP1R12A	OMIM:618820
HP:0000028	Cryptorchidism	8087	FXR1	OMIM:618822
HP:0000028	Cryptorchidism	8087	FXR1	OMIM:618823
HP:0000028	Cryptorchidism	8905	AP1S2	ORPHA:1568
HP:0000028	Cryptorchidism	51124	IER3IP1	OMIM:614231
HP:0000028	Cryptorchidism	8241	RBM10	ORPHA:2886
HP:0000028	Cryptorchidism	51780	KDM3B	OMIM:618846
HP:0000028	Cryptorchidism	5455	POU3F3	OMIM:618604
HP:0000028	Cryptorchidism	5718	PSMD12	OMIM:617516
HP:0000028	Cryptorchidism	3476	IGBP1	OMIM:300472
HP:0000028	Cryptorchidism	26160	IFT172	OMIM:619471
HP:0000028	Cryptorchidism	2245	FGD1	OMIM:305400
HP:0000028	Cryptorchidism	6134	RPL10	OMIM:300998
HP:0000028	Cryptorchidism	60529	ALX4	OMIM:613451
HP:0000028	Cryptorchidism	26005	C2CD3	ORPHA:434179
HP:0000028	Cryptorchidism	1387	CREBBP	OMIM:180849
HP:0000028	Cryptorchidism	2033	EP300	OMIM:180849
HP:0000028	Cryptorchidism	26137	ZBTB20	OMIM:259050
HP:0000028	Cryptorchidism	26137	ZBTB20	ORPHA:3042
HP:0000028	Cryptorchidism	55610	VPS50	OMIM:619685
HP:0000028	Cryptorchidism	2222	FDFT1	OMIM:618156
HP:0000028	Cryptorchidism	367	AR	ORPHA:90797
HP:0000028	Cryptorchidism	367	AR	ORPHA:99429
HP:0000028	Cryptorchidism	4953	ODC1	ORPHA:544488
HP:0000028	Cryptorchidism	7291	TWIST1	OMIM:617746
HP:0000028	Cryptorchidism	50485	SMARCAL1	OMIM:242900
HP:0000028	Cryptorchidism	10667	FARS2	ORPHA:466722
HP:0000028	Cryptorchidism	1586	CYP17A1	ORPHA:90793
HP:0000028	Cryptorchidism	4841	NONO	ORPHA:466791
HP:0000028	Cryptorchidism	4047	LSS	OMIM:618840
HP:0000028	Cryptorchidism	55870	ASH1L	OMIM:617796
HP:0000028	Cryptorchidism	10606	PAICS	OMIM:619859
HP:0000028	Cryptorchidism	7994	KAT6A	OMIM:616268
HP:0000028	Cryptorchidism	131118	DNAJC19	ORPHA:66634
HP:0000028	Cryptorchidism	10584	COLEC10	ORPHA:293843
HP:0000028	Cryptorchidism	5648	MASP1	ORPHA:293843
HP:0000028	Cryptorchidism	78989	COLEC11	ORPHA:293843
HP:0000028	Cryptorchidism	2074	ERCC6	OMIM:278800
HP:0000028	Cryptorchidism	1009	CDH11	OMIM:211380
HP:0000028	Cryptorchidism	10210	TOPORS	ORPHA:2754
HP:0000028	Cryptorchidism	9851	KIAA0753	ORPHA:2754
HP:0000028	Cryptorchidism	26123	TCTN3	ORPHA:2754
HP:0000028	Cryptorchidism	5147	PDE6D	ORPHA:2754
HP:0000028	Cryptorchidism	65250	CPLANE1	ORPHA:2754
HP:0000028	Cryptorchidism	51259	TMEM216	ORPHA:2754
HP:0000028	Cryptorchidism	8481	OFD1	ORPHA:2754
HP:0000028	Cryptorchidism	317662	FAM149B1	ORPHA:2754
HP:0000028	Cryptorchidism	374654	KIF7	ORPHA:2754
HP:0000028	Cryptorchidism	80311	KLHL15	OMIM:300982
HP:0000028	Cryptorchidism	404672	GTF2H5	OMIM:616395
HP:0000028	Cryptorchidism	6261	RYR1	OMIM:619542
HP:0000028	Cryptorchidism	22884	WDR37	OMIM:618652
HP:0000028	Cryptorchidism	54101	RIPK4	OMIM:263650
HP:0000028	Cryptorchidism	4174	MCM5	OMIM:617564
HP:0000028	Cryptorchidism	269	AMHR2	OMIM:261550
HP:0000028	Cryptorchidism	268	AMH	OMIM:261550
HP:0000028	Cryptorchidism	523	ATP6V1A	OMIM:617403
HP:0000028	Cryptorchidism	529	ATP6V1E1	OMIM:617402
HP:0000028	Cryptorchidism	1954	MEGF8	OMIM:614976
HP:0000028	Cryptorchidism	5426	POLE	OMIM:618336
HP:0000028	Cryptorchidism	64132	XYLT2	OMIM:605822
HP:0000028	Cryptorchidism	745	MYRF	OMIM:618280
HP:0000028	Cryptorchidism	4784	NFIX	ORPHA:447980
HP:0000028	Cryptorchidism	104	ADARB1	OMIM:618862
HP:0000028	Cryptorchidism	90121	TSR2	OMIM:300946
HP:0000028	Cryptorchidism	4781	NFIB	OMIM:618286
HP:0000028	Cryptorchidism	51111	KMT5B	OMIM:617788
HP:0000028	Cryptorchidism	3481	IGF2	OMIM:616489
HP:0000028	Cryptorchidism	83479	DDX59	OMIM:174300
HP:0000028	Cryptorchidism	6736	SRY	ORPHA:1772
HP:0000028	Cryptorchidism	84282	RNF135	ORPHA:137634
HP:0000028	Cryptorchidism	64093	SMOC1	OMIM:206920
HP:0000028	Cryptorchidism	25942	SIN3A	OMIM:613406
HP:0000028	Cryptorchidism	3640	INSL3	OMIM:219050
HP:0000029	Testicular atrophy	3251	HPRT1	OMIM:300322
HP:0000029	Testicular atrophy	3730	ANOS1	OMIM:308700
HP:0000029	Testicular atrophy	7466	WFS1	OMIM:222300
HP:0000029	Testicular atrophy	5428	POLG	OMIM:157640
HP:0000029	Testicular atrophy	367	AR	ORPHA:481
HP:0000029	Testicular atrophy	367	AR	OMIM:313200
HP:0000029	Testicular atrophy	6611	SMS	ORPHA:3063
HP:0000029	Testicular atrophy	2245	FGD1	OMIM:305400
HP:0000029	Testicular atrophy	2488	FSHB	ORPHA:52901
HP:0000029	Testicular atrophy	7157	TP53	OMIM:618165
HP:0000029	Testicular atrophy	654	BMP6	ORPHA:465508
HP:0000029	Testicular atrophy	3077	HFE	ORPHA:465508
HP:0000029	Testicular atrophy	3077	HFE	OMIM:235200
HP:0000029	Testicular atrophy	55651	NHP2	OMIM:613987
HP:0000029	Testicular atrophy	1760	DMPK	OMIM:160900
HP:0000029	Testicular atrophy	56159	TEX11	OMIM:309120
HP:0000029	Testicular atrophy	650	BMP2	OMIM:235200
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	8200	GDF5	ORPHA:93384
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	658	BMPR1B	ORPHA:93384
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	28957	MRPS28	OMIM:618958
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	7227	TRPS1	OMIM:190350
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	10847	SRCAP	OMIM:136140
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	415	ARSL	ORPHA:79345
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	7227	TRPS1	OMIM:190351
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	4883	NPR3	OMIM:619543
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	3549	IHH	OMIM:607778
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	4883	NPR3	OMIM:619543
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	51715	RAB23	OMIM:201000
HP:0010248	Cone-shaped epiphyses of the distal phalanges of the hand	28957	MRPS28	OMIM:618958
HP:0030676	Satyr ear	7703	PCGF2	OMIM:618371
HP:0030676	Satyr ear	6299	SALL1	OMIM:107480
HP:0030674	Antenatal onset	3651	PDX1	OMIM:260370
HP:0030674	Antenatal onset	6134	RPL10	OMIM:300998
HP:0030674	Antenatal onset	79879	CCDC134	OMIM:619795
HP:0030674	Antenatal onset	10112	KIF20A	OMIM:619433
HP:0030674	Antenatal onset	55388	MCM10	OMIM:619313
HP:0030674	Antenatal onset	5393	EXOSC9	OMIM:618065
HP:0030674	Antenatal onset	60529	ALX4	OMIM:613451
HP:0030674	Antenatal onset	4000	LMNA	OMIM:619793
HP:0030674	Antenatal onset	72	ACTG2	OMIM:619431
HP:0030674	Antenatal onset	6873	TAF2	OMIM:615599
HP:0030674	Antenatal onset	201595	STT3B	OMIM:615597
HP:0030674	Antenatal onset	5885	RAD21	OMIM:614701
HP:0030674	Antenatal onset	5396	PRRX1	OMIM:202650
HP:0030674	Antenatal onset	10785	WDR4	OMIM:618347
HP:0030674	Antenatal onset	23363	OBSL1	OMIM:612921
HP:0030674	Antenatal onset	2629	GBA1	OMIM:608013
HP:0030674	Antenatal onset	7681	MKRN3	OMIM:176270
HP:0030674	Antenatal onset	3653	IPW	OMIM:176270
HP:0030674	Antenatal onset	54551	MAGEL2	OMIM:176270
HP:0030674	Antenatal onset	791114	PWRN1	OMIM:176270
HP:0030674	Antenatal onset	100033413	SNORD116-1	OMIM:176270
HP:0030674	Antenatal onset	8924	HERC2	OMIM:176270
HP:0030674	Antenatal onset	145624	PWAR1	OMIM:176270
HP:0030674	Antenatal onset	23742	NPAP1	OMIM:176270
HP:0030674	Antenatal onset	338433	SNORD115-1	OMIM:176270
HP:0030674	Antenatal onset	117581	TWIST2	OMIM:200110
HP:0030674	Antenatal onset	9578	CDC42BPB	OMIM:619841
HP:0030674	Antenatal onset	1062	CENPE	OMIM:616051
HP:0030674	Antenatal onset	1630	DCC	OMIM:617542
HP:0030674	Antenatal onset	6392	SDHD	OMIM:619167
HP:0030674	Antenatal onset	84466	MEGF10	OMIM:614399
HP:0030674	Antenatal onset	477	ATP1A2	OMIM:619602
HP:0030674	Antenatal onset	5339	PLEC	OMIM:612138
HP:0030674	Antenatal onset	55033	FKBP14	OMIM:614557
HP:0030674	Antenatal onset	51259	TMEM216	OMIM:603194
HP:0030674	Antenatal onset	1161	ERCC8	OMIM:216400
HP:0030674	Antenatal onset	79158	GNPTAB	OMIM:252500
HP:0030674	Antenatal onset	10683	DLL3	OMIM:277300
HP:0030674	Antenatal onset	145873	MESP2	OMIM:277300
HP:0030674	Antenatal onset	79068	FTO	OMIM:612938
HP:0030674	Antenatal onset	64175	P3H1	OMIM:610915
HP:0030674	Antenatal onset	1146	CHRNG	OMIM:265000
HP:0030674	Antenatal onset	64324	NSD1	OMIM:117550
HP:0030674	Antenatal onset	50619	DEF6	OMIM:619573
HP:0030674	Antenatal onset	23345	SYNE1	OMIM:618484
HP:0030674	Antenatal onset	7468	NSD2	OMIM:619695
HP:0030674	Antenatal onset	11274	USP18	OMIM:617397
HP:0030674	Antenatal onset	10606	PAICS	OMIM:619859
HP:0030674	Antenatal onset	1147	CHUK	OMIM:613630
HP:0030674	Antenatal onset	6499	SKIC2	OMIM:614602
HP:0030674	Antenatal onset	64131	XYLT1	OMIM:615777
HP:0030674	Antenatal onset	23116	TOGARAM1	OMIM:619185
HP:0030674	Antenatal onset	6045	RNF2	OMIM:619460
HP:0030674	Antenatal onset	6557	SLC12A1	OMIM:601678
HP:0030674	Antenatal onset	57498	KIDINS220	OMIM:619501
HP:0030674	Antenatal onset	57498	KIDINS220	OMIM:617296
HP:0030674	Antenatal onset	127833	SYT2	OMIM:619461
HP:0030674	Antenatal onset	5277	PIGA	OMIM:300868
HP:0030674	Antenatal onset	80776	B9D2	OMIM:614175
HP:0030674	Antenatal onset	6885	MAP3K7	OMIM:157800
HP:0030674	Antenatal onset	8985	PLOD3	OMIM:612394
HP:0030674	Antenatal onset	55636	CHD7	OMIM:214800
HP:0030674	Antenatal onset	54872	PIGG	OMIM:616917
HP:0030674	Antenatal onset	9096	TBX18	OMIM:143400
HP:0030674	Antenatal onset	79053	ALG8	OMIM:608104
HP:0030674	Antenatal onset	23265	EXOC7	OMIM:619072
HP:0030674	Antenatal onset	51241	COX16	OMIM:619355
HP:0030674	Antenatal onset	3572	IL6ST	OMIM:619751
HP:0030674	Antenatal onset	9851	KIAA0753	OMIM:619479
HP:0030674	Antenatal onset	4629	MYH11	OMIM:619351
HP:0030674	Antenatal onset	57545	CC2D2A	OMIM:612284
HP:0030674	Antenatal onset	805	CALM2	OMIM:616249
HP:0030674	Antenatal onset	23443	SLC35A3	OMIM:615553
HP:0030674	Antenatal onset	51692	CPSF3	OMIM:619876
HP:0030674	Antenatal onset	116115	ZNF526	OMIM:619877
HP:0030674	Antenatal onset	10056	FARSB	OMIM:613658
HP:0030674	Antenatal onset	7168	TPM1	OMIM:611878
HP:0030674	Antenatal onset	3800	KIF5C	OMIM:615282
HP:0030674	Antenatal onset	25802	LMOD1	OMIM:619362
HP:0030674	Antenatal onset	10293	TRAIP	OMIM:616777
HP:0030674	Antenatal onset	163175	LGI4	OMIM:617468
HP:0030674	Antenatal onset	5500	PPP1CB	OMIM:617506
HP:0030674	Antenatal onset	64135	IFIH1	OMIM:615846
HP:0030674	Antenatal onset	23169	SLC35D1	OMIM:269250
HP:0030674	Antenatal onset	7443	VRK1	OMIM:607596
HP:0030674	Antenatal onset	6663	SOX10	OMIM:609136
HP:0030674	Antenatal onset	7139	TNNT2	OMIM:601494
HP:0030674	Antenatal onset	1376	CPT2	OMIM:608836
HP:0030674	Antenatal onset	23007	PLCH1	OMIM:619895
HP:0030674	Antenatal onset	11014	KDELR2	OMIM:619131
HP:0030674	Antenatal onset	5879	RAC1	OMIM:617751
HP:0030674	Antenatal onset	10463	SLC30A9	OMIM:617595
HP:0030674	Antenatal onset	374654	KIF7	OMIM:614120
HP:0030674	Antenatal onset	2193	FARSA	OMIM:619013
HP:0030674	Antenatal onset	10661	KLF1	OMIM:613673
HP:0030674	Antenatal onset	2990	GUSB	OMIM:253220
HP:0030674	Antenatal onset	2146	EZH2	OMIM:277590
HP:0030674	Antenatal onset	5718	PSMD12	OMIM:617516
HP:0030674	Antenatal onset	5557	PRIM1	OMIM:620005
HP:0030674	Antenatal onset	7473	WNT3	OMIM:273395
HP:0030674	Antenatal onset	286204	CRB2	OMIM:219730
HP:0030674	Antenatal onset	7546	ZIC2	OMIM:609637
HP:0030674	Antenatal onset	6261	RYR1	OMIM:619542
HP:0030674	Antenatal onset	81570	CLPB	OMIM:616271
HP:0030674	Antenatal onset	54101	RIPK4	OMIM:263650
HP:0030674	Antenatal onset	57728	WDR19	OMIM:614377
HP:0030674	Antenatal onset	6654	SOS1	OMIM:610733
HP:0030674	Antenatal onset	7403	KDM6A	OMIM:147920
HP:0030674	Antenatal onset	3930	LBR	OMIM:215140
HP:0030674	Antenatal onset	4921	DDR2	OMIM:271665
HP:0030674	Antenatal onset	65992	DDRGK1	OMIM:602557
HP:0030674	Antenatal onset	3376	IARS1	OMIM:617093
HP:0030674	Antenatal onset	4718	NDUFC2	OMIM:619170
HP:0030674	Antenatal onset	4001	LMNB1	OMIM:619179
HP:0030674	Antenatal onset	3190	HNRNPK	OMIM:616580
HP:0030674	Antenatal onset	4709	NDUFB3	OMIM:618246
HP:0030674	Antenatal onset	5314	PKHD1	OMIM:263200
HP:0030674	Antenatal onset	340419	RSPO2	OMIM:618022
HP:0030674	Antenatal onset	1984	EIF5A	OMIM:619376
HP:0030674	Antenatal onset	100128927	ZBTB42	OMIM:616248
HP:0030674	Antenatal onset	100151683	RNU4ATAC	OMIM:210710
HP:0030674	Antenatal onset	10491	CRTAP	OMIM:610682
HP:0030674	Antenatal onset	51126	NAA20	OMIM:619717
HP:0030674	Antenatal onset	55329	MNS1	OMIM:618948
HP:0030674	Antenatal onset	3054	HCFC1	OMIM:309541
HP:0030674	Antenatal onset	51294	PCDH12	OMIM:251280
HP:0030674	Antenatal onset	347734	SLC35B2	OMIM:620269
HP:0030674	Antenatal onset	56270	WDR45B	OMIM:617977
HP:0030674	Antenatal onset	8854	ALDH1A2	OMIM:620025
HP:0030674	Antenatal onset	779	CACNA1S	OMIM:620246
HP:0030674	Antenatal onset	55901	THSD1	OMIM:620244
HP:0030674	Antenatal onset	54361	WNT4	OMIM:611812
HP:0030674	Antenatal onset	5745	PTH1R	OMIM:215045
HP:0030674	Antenatal onset	701	BUB1B	OMIM:257300
HP:0030674	Antenatal onset	8204	NRIP1	OMIM:618270
HP:0030674	Antenatal onset	51360	MBTPS2	OMIM:301014
HP:0030674	Antenatal onset	222663	SCUBE3	OMIM:619184
HP:0030674	Antenatal onset	51611	DPH5	OMIM:620070
HP:0030674	Antenatal onset	80114	BICC1	OMIM:601331
HP:0030674	Antenatal onset	91754	NEK9	OMIM:617022
HP:0030674	Antenatal onset	51626	DYNC2LI1	OMIM:617088
HP:0030674	Antenatal onset	23395	LARS2	OMIM:617021
HP:0030674	Antenatal onset	9871	SEC24D	OMIM:616294
HP:0030674	Antenatal onset	7156	TOP3A	OMIM:618097
HP:0030674	Antenatal onset	219854	TMEM218	OMIM:619562
HP:0030674	Antenatal onset	55151	TMEM38B	OMIM:615066
HP:0030674	Antenatal onset	26281	FGF20	OMIM:615721
HP:0030674	Antenatal onset	22858	CILK1	OMIM:612651
HP:0030674	Antenatal onset	56603	CYP26B1	OMIM:614416
HP:0030674	Antenatal onset	2752	GLUL	OMIM:610015
HP:0030674	Antenatal onset	6662	SOX9	OMIM:114290
HP:0030674	Antenatal onset	25939	SAMHD1	OMIM:612952
HP:0030674	Antenatal onset	9562	MINPP1	OMIM:619527
HP:0030674	Antenatal onset	5297	PI4KA	OMIM:619708
HP:0030674	Antenatal onset	1759	DNM1	OMIM:620352
HP:0030674	Antenatal onset	342035	GLDN	OMIM:617194
HP:0030674	Antenatal onset	54345	SOX18	OMIM:607823
HP:0030674	Antenatal onset	80347	COASY	OMIM:618266
HP:0030674	Antenatal onset	51422	PRKAG2	OMIM:261740
HP:0030674	Antenatal onset	112	ADCY6	OMIM:616287
HP:0030674	Antenatal onset	54539	NDUFB11	OMIM:300952
HP:0030674	Antenatal onset	8506	CNTNAP1	OMIM:616286
HP:0030674	Antenatal onset	9631	NUP155	OMIM:615770
HP:0030674	Antenatal onset	5530	PPP3CA	OMIM:618265
HP:0030674	Antenatal onset	55503	TRPV6	OMIM:618188
HP:0030674	Antenatal onset	5831	PYCR1	OMIM:612940
HP:0030674	Antenatal onset	8777	MPDZ	OMIM:615219
HP:0030674	Antenatal onset	6154	RPL26	OMIM:614900
HP:0030674	Antenatal onset	57211	ADGRG6	OMIM:616503
HP:0030674	Antenatal onset	9757	KMT2B	OMIM:619934
HP:0030674	Antenatal onset	10269	ZMPSTE24	OMIM:275210
HP:0030674	Antenatal onset	51343	FZR1	OMIM:620145
HP:0030674	Antenatal onset	54675	CRLS1	OMIM:620167
HP:0030674	Antenatal onset	8085	KMT2D	OMIM:620186
HP:0030674	Antenatal onset	23299	BICD2	OMIM:618291
HP:0030674	Antenatal onset	56945	MRPS22	OMIM:611719
HP:0030674	Antenatal onset	57538	ALPK3	OMIM:618052
HP:0030674	Antenatal onset	9401	RECQL4	OMIM:218600
HP:0030674	Antenatal onset	197131	UBR1	OMIM:243800
HP:0030674	Antenatal onset	2187	FANCB	OMIM:314390
HP:0030674	Antenatal onset	7547	ZIC3	OMIM:314390
HP:0030674	Antenatal onset	6616	SNAP25	OMIM:616330
HP:0030674	Antenatal onset	6389	SDHA	OMIM:613642
HP:0030674	Antenatal onset	8792	TNFRSF11A	OMIM:602080
HP:0030674	Antenatal onset	84197	POMK	OMIM:615249
HP:0030674	Antenatal onset	5340	PLG	OMIM:217090
HP:0030674	Antenatal onset	55164	SHQ1	OMIM:619922
HP:0030674	Antenatal onset	29969	MDFIC	OMIM:620014
HP:0030674	Antenatal onset	871	SERPINH1	OMIM:613848
HP:0030674	Antenatal onset	9837	GINS1	OMIM:617827
HP:0030674	Antenatal onset	56052	ALG1	OMIM:608540
HP:0030674	Antenatal onset	745	MYRF	OMIM:618280
HP:0030674	Antenatal onset	2271	FH	OMIM:606812
HP:0030674	Antenatal onset	9321	TRIP11	OMIM:200600
HP:0030674	Antenatal onset	9928	KIF14	OMIM:617914
HP:0030674	Antenatal onset	9928	KIF14	OMIM:616258
HP:0030674	Antenatal onset	440193	CCDC88C	OMIM:236600
HP:0030674	Antenatal onset	90993	CREB3L1	OMIM:616229
HP:0030674	Antenatal onset	284086	NEK8	OMIM:615415
HP:0030674	Antenatal onset	7490	WT1	OMIM:194080
HP:0030674	Antenatal onset	64220	STRA6	OMIM:601186
HP:0030674	Antenatal onset	6331	SCN5A	OMIM:603830
HP:0030674	Antenatal onset	4927	NUP88	OMIM:618393
HP:0030674	Antenatal onset	3897	L1CAM	OMIM:304100
HP:0030674	Antenatal onset	1280	COL2A1	OMIM:200610
HP:0030674	Antenatal onset	2073	ERCC5	OMIM:616570
HP:0030674	Antenatal onset	54903	MKS1	OMIM:249000
HP:0030674	Antenatal onset	11041	B4GAT1	OMIM:615287
HP:0030674	Antenatal onset	23426	GRIP1	OMIM:617667
HP:0030674	Antenatal onset	6023	RMRP	OMIM:607095
HP:0030674	Antenatal onset	2674	GFRA1	OMIM:619887
HP:0030674	Antenatal onset	26123	TCTN3	OMIM:614815
HP:0030674	Antenatal onset	25942	SIN3A	OMIM:613406
HP:0030674	Antenatal onset	4713	NDUFB7	OMIM:620135
HP:0030674	Antenatal onset	60386	SLC25A19	OMIM:607196
HP:0030674	Antenatal onset	2261	FGFR3	OMIM:187601
HP:0030674	Antenatal onset	79770	TXNDC15	OMIM:619879
HP:0030674	Antenatal onset	27077	B9D1	OMIM:614209
HP:0030674	Antenatal onset	6862	TBXT	OMIM:615709
HP:0030674	Antenatal onset	168667	BMPER	OMIM:608022
HP:0030681	Abnormal morphology of myocardial trabeculae	10021	HCN4	OMIM:163800
HP:0030681	Abnormal morphology of myocardial trabeculae	57534	MIB1	OMIM:615092
HP:0030681	Abnormal morphology of myocardial trabeculae	1837	DTNA	OMIM:604169
HP:0030681	Abnormal morphology of myocardial trabeculae	4841	NONO	OMIM:300967
HP:0030681	Abnormal morphology of myocardial trabeculae	63976	PRDM16	OMIM:615373
HP:0030681	Abnormal morphology of myocardial trabeculae	4607	MYBPC3	OMIM:615396
HP:0030681	Abnormal morphology of myocardial trabeculae	6392	SDHD	OMIM:619167
HP:0030681	Abnormal morphology of myocardial trabeculae	805	CALM2	OMIM:616249
HP:0030681	Abnormal morphology of myocardial trabeculae	4285	MIPEP	OMIM:617228
HP:0030681	Abnormal morphology of myocardial trabeculae	388753	COA6	OMIM:616501
HP:0030681	Abnormal morphology of myocardial trabeculae	6331	SCN5A	ORPHA:1344
HP:0030681	Abnormal morphology of myocardial trabeculae	4878	NPPA	ORPHA:1344
HP:0030681	Abnormal morphology of myocardial trabeculae	6389	SDHA	OMIM:613642
HP:0030681	Abnormal morphology of myocardial trabeculae	6389	SDHA	OMIM:252011
HP:0030681	Abnormal morphology of myocardial trabeculae	70	ACTC1	OMIM:613424
HP:0030681	Abnormal morphology of myocardial trabeculae	88	ACTN2	OMIM:612158
HP:0030681	Abnormal morphology of myocardial trabeculae	4625	MYH7	OMIM:613426
HP:0030681	Abnormal morphology of myocardial trabeculae	11155	LDB3	OMIM:601493
HP:0030681	Abnormal morphology of myocardial trabeculae	7139	TNNT2	OMIM:601494
HP:0030681	Abnormal morphology of myocardial trabeculae	57176	VARS2	OMIM:615917
HP:0030681	Abnormal morphology of myocardial trabeculae	3728	JUP	OMIM:601214
HP:0030682	Left ventricular noncompaction	10021	HCN4	OMIM:163800
HP:0030682	Left ventricular noncompaction	57534	MIB1	OMIM:615092
HP:0030682	Left ventricular noncompaction	1837	DTNA	OMIM:604169
HP:0030682	Left ventricular noncompaction	4841	NONO	OMIM:300967
HP:0030682	Left ventricular noncompaction	63976	PRDM16	OMIM:615373
HP:0030682	Left ventricular noncompaction	4607	MYBPC3	OMIM:615396
HP:0030682	Left ventricular noncompaction	6392	SDHD	OMIM:619167
HP:0030682	Left ventricular noncompaction	805	CALM2	OMIM:616249
HP:0030682	Left ventricular noncompaction	4285	MIPEP	OMIM:617228
HP:0030682	Left ventricular noncompaction	388753	COA6	OMIM:616501
HP:0030682	Left ventricular noncompaction	6331	SCN5A	ORPHA:1344
HP:0030682	Left ventricular noncompaction	4878	NPPA	ORPHA:1344
HP:0030682	Left ventricular noncompaction	6389	SDHA	OMIM:613642
HP:0030682	Left ventricular noncompaction	6389	SDHA	OMIM:252011
HP:0030682	Left ventricular noncompaction	70	ACTC1	OMIM:613424
HP:0030682	Left ventricular noncompaction	88	ACTN2	OMIM:612158
HP:0030682	Left ventricular noncompaction	4625	MYH7	OMIM:613426
HP:0030682	Left ventricular noncompaction	11155	LDB3	OMIM:601493
HP:0030682	Left ventricular noncompaction	7139	TNNT2	OMIM:601494
HP:0030682	Left ventricular noncompaction	57176	VARS2	OMIM:615917
HP:0000030	Testicular gonadoblastoma	6662	SOX9	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	6845	VAMP7	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	51741	WWOX	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	4214	MAP3K1	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	2516	NR5A1	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	7490	WT1	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	58524	DMRT3	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	57647	DHX37	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	6736	SRY	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	23414	ZFPM2	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	190	NR0B1	ORPHA:251510
HP:0000030	Testicular gonadoblastoma	2626	GATA4	ORPHA:251510
HP:0000031	Epididymitis	7374	UNG	OMIM:608106
HP:0000031	Epididymitis	695	BTK	OMIM:300755
HP:0000031	Epididymitis	695	BTK	OMIM:307200
HP:0000031	Epididymitis	5696	PSMB8	OMIM:256040
HP:0000031	Epididymitis	3514	IGKC	ORPHA:183675
HP:0000031	Epididymitis	3501	IGHG2	ORPHA:183675
HP:0000032	Abnormality of male external genitalia	23394	ADNP	ORPHA:404448
HP:0000032	Abnormality of male external genitalia	23394	ADNP	OMIM:615873
HP:0000032	Abnormality of male external genitalia	8216	LZTR1	OMIM:616564
HP:0000032	Abnormality of male external genitalia	8216	LZTR1	OMIM:605275
HP:0000032	Abnormality of male external genitalia	8216	LZTR1	ORPHA:648
HP:0000032	Abnormality of male external genitalia	23135	KDM6B	OMIM:618505
HP:0000032	Abnormality of male external genitalia	1024	CDK8	OMIM:618748
HP:0000032	Abnormality of male external genitalia	1788	DNMT3A	ORPHA:404443
HP:0000032	Abnormality of male external genitalia	80816	ASXL3	OMIM:615485
HP:0000032	Abnormality of male external genitalia	55690	PACS1	OMIM:615009
HP:0000032	Abnormality of male external genitalia	55690	PACS1	ORPHA:329224
HP:0000032	Abnormality of male external genitalia	55904	KMT2E	OMIM:618512
HP:0000032	Abnormality of male external genitalia	2192	FBLN1	ORPHA:404451
HP:0000032	Abnormality of male external genitalia	284403	WDR62	OMIM:604317
HP:0000032	Abnormality of male external genitalia	3190	HNRNPK	OMIM:616580
HP:0000032	Abnormality of male external genitalia	3190	HNRNPK	ORPHA:453504
HP:0000032	Abnormality of male external genitalia	3190	HNRNPK	ORPHA:352665
HP:0000032	Abnormality of male external genitalia	54453	RIN2	OMIM:613075
HP:0000032	Abnormality of male external genitalia	54453	RIN2	ORPHA:217335
HP:0000032	Abnormality of male external genitalia	113189	CHST14	ORPHA:2953
HP:0000032	Abnormality of male external genitalia	113189	CHST14	OMIM:601776
HP:0000032	Abnormality of male external genitalia	29940	DSE	ORPHA:2953
HP:0000032	Abnormality of male external genitalia	55681	SCYL2	OMIM:618766
HP:0000032	Abnormality of male external genitalia	10484	SEC23A	OMIM:607812
HP:0000032	Abnormality of male external genitalia	23327	NEDD4L	OMIM:617201
HP:0000032	Abnormality of male external genitalia	8036	SHOC2	ORPHA:2701
HP:0000032	Abnormality of male external genitalia	8036	SHOC2	OMIM:607721
HP:0000032	Abnormality of male external genitalia	5500	PPP1CB	ORPHA:2701
HP:0000032	Abnormality of male external genitalia	5500	PPP1CB	OMIM:617506
HP:0000032	Abnormality of male external genitalia	9860	LRIG2	ORPHA:2704
HP:0000032	Abnormality of male external genitalia	60495	HPSE2	ORPHA:2704
HP:0000032	Abnormality of male external genitalia	60495	HPSE2	OMIM:236730
HP:0000032	Abnormality of male external genitalia	51633	OTUD6B	OMIM:617452
HP:0000032	Abnormality of male external genitalia	51633	OTUD6B	ORPHA:505237
HP:0000032	Abnormality of male external genitalia	641	BLM	OMIM:210900
HP:0000032	Abnormality of male external genitalia	57688	ZSWIM6	OMIM:603671
HP:0000032	Abnormality of male external genitalia	57688	ZSWIM6	ORPHA:1827
HP:0000032	Abnormality of male external genitalia	8643	PTCH2	ORPHA:377
HP:0000032	Abnormality of male external genitalia	23483	TGDS	OMIM:616145
HP:0000032	Abnormality of male external genitalia	5881	RAC3	OMIM:618577
HP:0000032	Abnormality of male external genitalia	5081	PAX7	OMIM:618578
HP:0000032	Abnormality of male external genitalia	2261	FGFR3	ORPHA:794
HP:0000032	Abnormality of male external genitalia	2261	FGFR3	ORPHA:2363
HP:0000032	Abnormality of male external genitalia	9361	LONP1	OMIM:600373
HP:0000032	Abnormality of male external genitalia	1798	DPAGT1	OMIM:608093
HP:0000032	Abnormality of male external genitalia	2972	BRF1	ORPHA:444072
HP:0000032	Abnormality of male external genitalia	2972	BRF1	OMIM:616202
HP:0000032	Abnormality of male external genitalia	4952	OCRL	ORPHA:534
HP:0000032	Abnormality of male external genitalia	4952	OCRL	OMIM:309000
HP:0000032	Abnormality of male external genitalia	84340	GFM2	ORPHA:565624
HP:0000032	Abnormality of male external genitalia	4927	NUP88	ORPHA:994
HP:0000032	Abnormality of male external genitalia	4927	NUP88	OMIM:618393
HP:0000032	Abnormality of male external genitalia	7846	TUBA1A	ORPHA:994
HP:0000032	Abnormality of male external genitalia	4654	MYOD1	ORPHA:994
HP:0000032	Abnormality of male external genitalia	4593	MUSK	ORPHA:994
HP:0000032	Abnormality of male external genitalia	4593	MUSK	OMIM:208150
HP:0000032	Abnormality of male external genitalia	5913	RAPSN	ORPHA:994
HP:0000032	Abnormality of male external genitalia	5913	RAPSN	OMIM:618388
HP:0000032	Abnormality of male external genitalia	6572	SLC18A3	ORPHA:994
HP:0000032	Abnormality of male external genitalia	285489	DOK7	ORPHA:994
HP:0000032	Abnormality of male external genitalia	134218	DNAJC21	OMIM:617052
HP:0000032	Abnormality of male external genitalia	57061	HYMAI	ORPHA:96191
HP:0000032	Abnormality of male external genitalia	5325	PLAGL1	ORPHA:96191
HP:0000032	Abnormality of male external genitalia	94005	PIGS	OMIM:618143
HP:0000032	Abnormality of male external genitalia	2317	FLNB	ORPHA:503
HP:0000032	Abnormality of male external genitalia	2317	FLNB	ORPHA:1263
HP:0000032	Abnormality of male external genitalia	2317	FLNB	OMIM:108720
HP:0000032	Abnormality of male external genitalia	2317	FLNB	OMIM:150250
HP:0000032	Abnormality of male external genitalia	10283	CWC27	ORPHA:166035
HP:0000032	Abnormality of male external genitalia	388015	RTL1	ORPHA:96184
HP:0000032	Abnormality of male external genitalia	388015	RTL1	ORPHA:96334
HP:0000032	Abnormality of male external genitalia	8788	DLK1	ORPHA:96184
HP:0000032	Abnormality of male external genitalia	8788	DLK1	ORPHA:96334
HP:0000032	Abnormality of male external genitalia	55384	MEG3	ORPHA:96184
HP:0000032	Abnormality of male external genitalia	55384	MEG3	ORPHA:96334
HP:0000032	Abnormality of male external genitalia	10682	EBP	OMIM:300960
HP:0000032	Abnormality of male external genitalia	10682	EBP	ORPHA:401973
HP:0000032	Abnormality of male external genitalia	23112	TNRC6B	OMIM:619243
HP:0000032	Abnormality of male external genitalia	91875	TTC5	OMIM:619244
HP:0000032	Abnormality of male external genitalia	7169	TPM2	OMIM:108120
HP:0000032	Abnormality of male external genitalia	5557	PRIM1	OMIM:620005
HP:0000032	Abnormality of male external genitalia	55294	FBXW7	OMIM:620012
HP:0000032	Abnormality of male external genitalia	6095	RORA	OMIM:618060
HP:0000032	Abnormality of male external genitalia	23241	PACS2	OMIM:618067
HP:0000032	Abnormality of male external genitalia	81839	VANGL1	ORPHA:3027
HP:0000032	Abnormality of male external genitalia	80199	FUZ	ORPHA:3027
HP:0000032	Abnormality of male external genitalia	9401	RECQL4	OMIM:268400
HP:0000032	Abnormality of male external genitalia	9401	RECQL4	ORPHA:221016
HP:0000032	Abnormality of male external genitalia	10978	CLP1	OMIM:615803
HP:0000032	Abnormality of male external genitalia	150468	CKAP2L	ORPHA:3255
HP:0000032	Abnormality of male external genitalia	150468	CKAP2L	OMIM:272440
HP:0000032	Abnormality of male external genitalia	10225	CD96	OMIM:211750
HP:0000032	Abnormality of male external genitalia	10225	CD96	ORPHA:1308
HP:0000032	Abnormality of male external genitalia	92579	G6PC3	OMIM:612541
HP:0000032	Abnormality of male external genitalia	23545	ATP6V0A2	OMIM:278250
HP:0000032	Abnormality of male external genitalia	23545	ATP6V0A2	ORPHA:2834
HP:0000032	Abnormality of male external genitalia	84300	UQCC2	OMIM:615824
HP:0000032	Abnormality of male external genitalia	79053	ALG8	OMIM:608104
HP:0000032	Abnormality of male external genitalia	54496	PRMT7	ORPHA:464288
HP:0000032	Abnormality of male external genitalia	165	AEBP1	ORPHA:536532
HP:0000032	Abnormality of male external genitalia	165	AEBP1	OMIM:618000
HP:0000032	Abnormality of male external genitalia	9653	HS2ST1	OMIM:619194
HP:0000032	Abnormality of male external genitalia	64327	LMBR1	ORPHA:2378
HP:0000032	Abnormality of male external genitalia	23345	SYNE1	ORPHA:319332
HP:0000032	Abnormality of male external genitalia	23345	SYNE1	OMIM:618484
HP:0000032	Abnormality of male external genitalia	4094	MAF	ORPHA:1272
HP:0000032	Abnormality of male external genitalia	10436	EMG1	ORPHA:1270
HP:0000032	Abnormality of male external genitalia	81887	LAS1L	ORPHA:3459
HP:0000032	Abnormality of male external genitalia	81887	LAS1L	OMIM:309585
HP:0000032	Abnormality of male external genitalia	2255	FGF10	ORPHA:2363
HP:0000032	Abnormality of male external genitalia	10984	KCNQ1OT1	ORPHA:2128
HP:0000032	Abnormality of male external genitalia	10984	KCNQ1OT1	OMIM:130650
HP:0000032	Abnormality of male external genitalia	283120	H19	ORPHA:2128
HP:0000032	Abnormality of male external genitalia	147372	CCBE1	OMIM:235510
HP:0000032	Abnormality of male external genitalia	6567	SLC16A2	ORPHA:59
HP:0000032	Abnormality of male external genitalia	55023	PHIP	ORPHA:589905
HP:0000032	Abnormality of male external genitalia	55023	PHIP	OMIM:617991
HP:0000032	Abnormality of male external genitalia	4854	NOTCH3	OMIM:130720
HP:0000032	Abnormality of male external genitalia	4854	NOTCH3	ORPHA:2789
HP:0000032	Abnormality of male external genitalia	4893	NRAS	OMIM:613224
HP:0000032	Abnormality of male external genitalia	4893	NRAS	ORPHA:648
HP:0000032	Abnormality of male external genitalia	2891	GRIA2	OMIM:618917
HP:0000032	Abnormality of male external genitalia	10560	SLC19A2	OMIM:249270
HP:0000032	Abnormality of male external genitalia	259232	NALCN	OMIM:615419
HP:0000032	Abnormality of male external genitalia	259232	NALCN	ORPHA:2053
HP:0000032	Abnormality of male external genitalia	79576	NKAP	OMIM:301039
HP:0000032	Abnormality of male external genitalia	64840	PORCN	OMIM:305600
HP:0000032	Abnormality of male external genitalia	157680	VPS13B	ORPHA:193
HP:0000032	Abnormality of male external genitalia	55617	TASP1	OMIM:618950
HP:0000032	Abnormality of male external genitalia	28957	MRPS28	OMIM:618958
HP:0000032	Abnormality of male external genitalia	153241	CEP120	OMIM:616300
HP:0000032	Abnormality of male external genitalia	1748	DLX4	OMIM:616788
HP:0000032	Abnormality of male external genitalia	23389	MED13L	OMIM:616789
HP:0000032	Abnormality of male external genitalia	23389	MED13L	ORPHA:369891
HP:0000032	Abnormality of male external genitalia	6655	SOS2	OMIM:616559
HP:0000032	Abnormality of male external genitalia	6655	SOS2	ORPHA:648
HP:0000032	Abnormality of male external genitalia	246329	STAC3	OMIM:255995
HP:0000032	Abnormality of male external genitalia	246329	STAC3	ORPHA:168572
HP:0000032	Abnormality of male external genitalia	64682	ANAPC1	ORPHA:221008
HP:0000032	Abnormality of male external genitalia	7528	YY1	ORPHA:506358
HP:0000032	Abnormality of male external genitalia	7528	YY1	OMIM:617557
HP:0000032	Abnormality of male external genitalia	23141	ANKLE2	OMIM:616681
HP:0000032	Abnormality of male external genitalia	6016	RIT1	OMIM:615355
HP:0000032	Abnormality of male external genitalia	6016	RIT1	ORPHA:648
HP:0000032	Abnormality of male external genitalia	3008	H1-4	OMIM:617537
HP:0000032	Abnormality of male external genitalia	64220	STRA6	OMIM:601186
HP:0000032	Abnormality of male external genitalia	64220	STRA6	ORPHA:2470
HP:0000032	Abnormality of male external genitalia	2067	ERCC1	ORPHA:90322
HP:0000032	Abnormality of male external genitalia	1183	CLCN4	ORPHA:485350
HP:0000032	Abnormality of male external genitalia	5424	POLD1	OMIM:615381
HP:0000032	Abnormality of male external genitalia	93627	TBCK	ORPHA:488632
HP:0000032	Abnormality of male external genitalia	200734	SPRED2	OMIM:619745
HP:0000032	Abnormality of male external genitalia	200734	SPRED2	ORPHA:648
HP:0000032	Abnormality of male external genitalia	1182	CLCN3	OMIM:619512
HP:0000032	Abnormality of male external genitalia	145258	GSC	OMIM:602471
HP:0000032	Abnormality of male external genitalia	2312	FLG	ORPHA:461
HP:0000032	Abnormality of male external genitalia	9993	DGCR2	OMIM:192430
HP:0000032	Abnormality of male external genitalia	8220	ESS2	OMIM:192430
HP:0000032	Abnormality of male external genitalia	8214	DGCR6	OMIM:192430
HP:0000032	Abnormality of male external genitalia	54487	DGCR8	OMIM:192430
HP:0000032	Abnormality of male external genitalia	5286	PIK3C2A	OMIM:618440
HP:0000032	Abnormality of male external genitalia	136647	MPLKIP	ORPHA:33364
HP:0000032	Abnormality of male external genitalia	6897	TARS1	ORPHA:33364
HP:0000032	Abnormality of male external genitalia	2961	GTF2E2	ORPHA:33364
HP:0000032	Abnormality of male external genitalia	6878	TAF6	OMIM:617126
HP:0000032	Abnormality of male external genitalia	6654	SOS1	OMIM:610733
HP:0000032	Abnormality of male external genitalia	6654	SOS1	ORPHA:648
HP:0000032	Abnormality of male external genitalia	5076	PAX2	ORPHA:97362
HP:0000032	Abnormality of male external genitalia	9759	HDAC4	OMIM:619797
HP:0000032	Abnormality of male external genitalia	51728	POLR3K	OMIM:619310
HP:0000032	Abnormality of male external genitalia	26275	HIBCH	ORPHA:88639
HP:0000032	Abnormality of male external genitalia	2710	GK	OMIM:307030
HP:0000032	Abnormality of male external genitalia	79068	FTO	OMIM:612938
HP:0000032	Abnormality of male external genitalia	10082	GPC6	OMIM:258315
HP:0000032	Abnormality of male external genitalia	10082	GPC6	ORPHA:93329
HP:0000032	Abnormality of male external genitalia	3265	HRAS	ORPHA:3071
HP:0000032	Abnormality of male external genitalia	3265	HRAS	ORPHA:2874
HP:0000032	Abnormality of male external genitalia	1822	ATN1	OMIM:618494
HP:0000032	Abnormality of male external genitalia	51715	RAB23	ORPHA:65759
HP:0000032	Abnormality of male external genitalia	51715	RAB23	OMIM:201000
HP:0000032	Abnormality of male external genitalia	29895	MYL11	OMIM:619110
HP:0000032	Abnormality of male external genitalia	1836	SLC26A2	ORPHA:628
HP:0000032	Abnormality of male external genitalia	90416	CCDC32	OMIM:619123
HP:0000032	Abnormality of male external genitalia	57020	VPS35L	OMIM:619135
HP:0000032	Abnormality of male external genitalia	1984	EIF5A	OMIM:619376
HP:0000032	Abnormality of male external genitalia	2733	GLE1	OMIM:611890
HP:0000032	Abnormality of male external genitalia	22800	RRAS2	ORPHA:648
HP:0000032	Abnormality of male external genitalia	867	CBL	ORPHA:648
HP:0000032	Abnormality of male external genitalia	867	CBL	OMIM:613563
HP:0000032	Abnormality of male external genitalia	6237	RRAS	ORPHA:648
HP:0000032	Abnormality of male external genitalia	22808	MRAS	ORPHA:648
HP:0000032	Abnormality of male external genitalia	5922	RASA2	ORPHA:648
HP:0000032	Abnormality of male external genitalia	59	ACTA2	OMIM:613834
HP:0000032	Abnormality of male external genitalia	4693	NDP	ORPHA:649
HP:0000032	Abnormality of male external genitalia	221692	PHACTR1	OMIM:618298
HP:0000032	Abnormality of male external genitalia	5605	MAP2K2	ORPHA:638
HP:0000032	Abnormality of male external genitalia	5605	MAP2K2	ORPHA:1340
HP:0000032	Abnormality of male external genitalia	9325	TRIP4	ORPHA:486815
HP:0000032	Abnormality of male external genitalia	83483	PLVAP	OMIM:618183
HP:0000032	Abnormality of male external genitalia	83700	JAM3	OMIM:613730
HP:0000032	Abnormality of male external genitalia	2904	GRIN2B	OMIM:613970
HP:0000032	Abnormality of male external genitalia	8854	ALDH1A2	OMIM:620025
HP:0000032	Abnormality of male external genitalia	3636	INPPL1	ORPHA:3144
HP:0000032	Abnormality of male external genitalia	23169	SLC35D1	ORPHA:3144
HP:0000032	Abnormality of male external genitalia	8496	PPFIBP1	OMIM:620024
HP:0000032	Abnormality of male external genitalia	26053	AUTS2	ORPHA:352490
HP:0000032	Abnormality of male external genitalia	5826	ABCD4	OMIM:614857
HP:0000032	Abnormality of male external genitalia	5594	MAPK1	OMIM:619087
HP:0000032	Abnormality of male external genitalia	25802	LMOD1	ORPHA:2241
HP:0000032	Abnormality of male external genitalia	4629	MYH11	ORPHA:2241
HP:0000032	Abnormality of male external genitalia	72	ACTG2	ORPHA:2241
HP:0000032	Abnormality of male external genitalia	4638	MYLK	ORPHA:2241
HP:0000032	Abnormality of male external genitalia	5832	ALDH18A1	OMIM:219150
HP:0000032	Abnormality of male external genitalia	84919	PPP1R15B	OMIM:616817
HP:0000032	Abnormality of male external genitalia	51244	CCDC174	OMIM:616816
HP:0000032	Abnormality of male external genitalia	5915	RARB	ORPHA:2470
HP:0000032	Abnormality of male external genitalia	5915	RARB	OMIM:615524
HP:0000032	Abnormality of male external genitalia	254065	BRWD3	OMIM:300659
HP:0000032	Abnormality of male external genitalia	3784	KCNQ1	OMIM:130650
HP:0000032	Abnormality of male external genitalia	7473	WNT3	ORPHA:3301
HP:0000032	Abnormality of male external genitalia	274	BIN1	ORPHA:169189
HP:0000032	Abnormality of male external genitalia	64419	MTMR14	ORPHA:169189
HP:0000032	Abnormality of male external genitalia	4618	MYF6	ORPHA:169189
HP:0000032	Abnormality of male external genitalia	1785	DNM2	ORPHA:169189
HP:0000032	Abnormality of male external genitalia	2702	GJA5	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	1482	NKX2-5	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	137814	NKX2-6	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	3791	KDR	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	2627	GATA6	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	2657	GDF1	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	182	JAG1	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	140628	GATA5	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	10370	CITED2	ORPHA:3303
HP:0000032	Abnormality of male external genitalia	5831	PYCR1	OMIM:614438
HP:0000032	Abnormality of male external genitalia	4297	KMT2A	OMIM:605130
HP:0000032	Abnormality of male external genitalia	2592	GALT	ORPHA:79239
HP:0000032	Abnormality of male external genitalia	10265	IRX5	OMIM:611174
HP:0000032	Abnormality of male external genitalia	7074	TIAM1	OMIM:619908
HP:0000032	Abnormality of male external genitalia	8905	AP1S2	ORPHA:1568
HP:0000032	Abnormality of male external genitalia	8241	RBM10	ORPHA:2886
HP:0000032	Abnormality of male external genitalia	5455	POU3F3	OMIM:618604
HP:0000032	Abnormality of male external genitalia	3251	HPRT1	OMIM:300322
HP:0000032	Abnormality of male external genitalia	7466	WFS1	OMIM:222300
HP:0000032	Abnormality of male external genitalia	5428	POLG	OMIM:157640
HP:0000032	Abnormality of male external genitalia	654	BMP6	ORPHA:465508
HP:0000032	Abnormality of male external genitalia	3077	HFE	ORPHA:465508
HP:0000032	Abnormality of male external genitalia	3077	HFE	OMIM:235200
HP:0000032	Abnormality of male external genitalia	1760	DMPK	OMIM:160900
HP:0000032	Abnormality of male external genitalia	650	BMP2	OMIM:235200
HP:0000032	Abnormality of male external genitalia	1718	DHCR24	OMIM:602398
HP:0000032	Abnormality of male external genitalia	6913	TBX15	OMIM:260660
HP:0000032	Abnormality of male external genitalia	54345	SOX18	OMIM:137940
HP:0000032	Abnormality of male external genitalia	54345	SOX18	ORPHA:69735
HP:0000032	Abnormality of male external genitalia	54345	SOX18	OMIM:607823
HP:0000032	Abnormality of male external genitalia	1802	DPH2	OMIM:620062
HP:0000032	Abnormality of male external genitalia	9780	PIEZO1	OMIM:616843
HP:0000032	Abnormality of male external genitalia	2324	FLT4	OMIM:153100
HP:0000032	Abnormality of male external genitalia	2324	FLT4	ORPHA:79452
HP:0000032	Abnormality of male external genitalia	285	ANGPT2	OMIM:619369
HP:0000032	Abnormality of male external genitalia	9508	ADAMTS3	OMIM:618154
HP:0000032	Abnormality of male external genitalia	9739	SETD1A	OMIM:618832
HP:0000032	Abnormality of male external genitalia	7841	MOGS	ORPHA:79330
HP:0000032	Abnormality of male external genitalia	57165	GJC2	ORPHA:79452
HP:0000032	Abnormality of male external genitalia	2122	MECOM	OMIM:616738
HP:0000032	Abnormality of male external genitalia	80267	EDEM3	OMIM:619493
HP:0000032	Abnormality of male external genitalia	9487	PIGL	OMIM:280000
HP:0000032	Abnormality of male external genitalia	55901	THSD1	OMIM:620244
HP:0000032	Abnormality of male external genitalia	29969	MDFIC	OMIM:620014
HP:0000032	Abnormality of male external genitalia	7424	VEGFC	OMIM:615907
HP:0000032	Abnormality of male external genitalia	472	ATM	ORPHA:100
HP:0000032	Abnormality of male external genitalia	2697	GJA1	ORPHA:317
HP:0000032	Abnormality of male external genitalia	2707	GJB3	ORPHA:317
HP:0000032	Abnormality of male external genitalia	2531	KDSR	ORPHA:317
HP:0000032	Abnormality of male external genitalia	127534	GJB4	ORPHA:317
HP:0000032	Abnormality of male external genitalia	10483	SEC23B	ORPHA:201
HP:0000032	Abnormality of male external genitalia	6390	SDHB	ORPHA:201
HP:0000032	Abnormality of male external genitalia	6392	SDHD	ORPHA:201
HP:0000032	Abnormality of male external genitalia	6391	SDHC	ORPHA:201
HP:0000032	Abnormality of male external genitalia	205717	USF3	ORPHA:201
HP:0000032	Abnormality of male external genitalia	5290	PIK3CA	ORPHA:201
HP:0000032	Abnormality of male external genitalia	100144748	KLLN	ORPHA:201
HP:0000032	Abnormality of male external genitalia	1857	DVL3	ORPHA:3107
HP:0000032	Abnormality of male external genitalia	7474	WNT5A	ORPHA:3107
HP:0000032	Abnormality of male external genitalia	1855	DVL1	ORPHA:3107
HP:0000032	Abnormality of male external genitalia	2535	FZD2	ORPHA:3107
HP:0000032	Abnormality of male external genitalia	3845	KRAS	ORPHA:3339
HP:0000032	Abnormality of male external genitalia	54361	WNT4	ORPHA:139466
HP:0000032	Abnormality of male external genitalia	63895	PIEZO2	ORPHA:2461
HP:0000032	Abnormality of male external genitalia	4089	SMAD4	ORPHA:2588
HP:0000032	Abnormality of male external genitalia	55733	HHAT	ORPHA:1422
HP:0000032	Abnormality of male external genitalia	55733	HHAT	OMIM:600092
HP:0000032	Abnormality of male external genitalia	268	AMH	ORPHA:2856
HP:0000032	Abnormality of male external genitalia	269	AMHR2	ORPHA:2856
HP:0000032	Abnormality of male external genitalia	84314	TMEM107	ORPHA:564
HP:0000032	Abnormality of male external genitalia	79867	TCTN2	ORPHA:564
HP:0000032	Abnormality of male external genitalia	80776	B9D2	ORPHA:564
HP:0000032	Abnormality of male external genitalia	79600	TCTN1	ORPHA:564
HP:0000032	Abnormality of male external genitalia	57096	RPGRIP1	ORPHA:564
HP:0000032	Abnormality of male external genitalia	79848	CSPP1	ORPHA:564
HP:0000032	Abnormality of male external genitalia	80184	CEP290	ORPHA:564
HP:0000032	Abnormality of male external genitalia	51259	TMEM216	ORPHA:564
HP:0000032	Abnormality of male external genitalia	57545	CC2D2A	ORPHA:564
HP:0000032	Abnormality of male external genitalia	79583	TMEM231	ORPHA:564
HP:0000032	Abnormality of male external genitalia	91147	TMEM67	ORPHA:564
HP:0000032	Abnormality of male external genitalia	79770	TXNDC15	ORPHA:564
HP:0000032	Abnormality of male external genitalia	27077	B9D1	ORPHA:564
HP:0000032	Abnormality of male external genitalia	23322	RPGRIP1L	ORPHA:564
HP:0000032	Abnormality of male external genitalia	54903	MKS1	ORPHA:564
HP:0000032	Abnormality of male external genitalia	65062	TMEM237	ORPHA:564
HP:0000032	Abnormality of male external genitalia	1761	DMRT1	ORPHA:242
HP:0000032	Abnormality of male external genitalia	84733	CBX2	ORPHA:242
HP:0000032	Abnormality of male external genitalia	50846	DHH	ORPHA:242
HP:0000032	Abnormality of male external genitalia	1646	AKR1C2	OMIM:614279
HP:0000032	Abnormality of male external genitalia	1109	AKR1C4	OMIM:614279
HP:0000032	Abnormality of male external genitalia	3110	MNX1	ORPHA:1552
HP:0000032	Abnormality of male external genitalia	5567	PRKACB	ORPHA:289
HP:0000032	Abnormality of male external genitalia	2735	GLI1	ORPHA:289
HP:0000032	Abnormality of male external genitalia	2121	EVC	ORPHA:289
HP:0000032	Abnormality of male external genitalia	2121	EVC	OMIM:225500
HP:0000032	Abnormality of male external genitalia	51626	DYNC2LI1	ORPHA:289
HP:0000032	Abnormality of male external genitalia	132884	EVC2	ORPHA:289
HP:0000032	Abnormality of male external genitalia	132884	EVC2	OMIM:225500
HP:0000032	Abnormality of male external genitalia	29123	ANKRD11	OMIM:148050
HP:0000032	Abnormality of male external genitalia	26005	C2CD3	ORPHA:434179
HP:0000032	Abnormality of male external genitalia	26005	C2CD3	OMIM:615948
HP:0000032	Abnormality of male external genitalia	157570	ESCO2	OMIM:268300
HP:0000032	Abnormality of male external genitalia	157570	ESCO2	ORPHA:3103
HP:0000032	Abnormality of male external genitalia	3643	INSR	OMIM:262190
HP:0000032	Abnormality of male external genitalia	3643	INSR	OMIM:246200
HP:0000032	Abnormality of male external genitalia	3643	INSR	ORPHA:508
HP:0000032	Abnormality of male external genitalia	3643	INSR	ORPHA:769
HP:0000032	Abnormality of male external genitalia	1584	CYP11B1	OMIM:202010
HP:0000032	Abnormality of male external genitalia	1584	CYP11B1	ORPHA:90795
HP:0000032	Abnormality of male external genitalia	3756	KCNH1	OMIM:135500
HP:0000032	Abnormality of male external genitalia	2260	FGFR1	OMIM:190440
HP:0000032	Abnormality of male external genitalia	3973	LHCGR	ORPHA:3000
HP:0000032	Abnormality of male external genitalia	11128	POLR3A	OMIM:264090
HP:0000032	Abnormality of male external genitalia	83550	GPR101	ORPHA:963
HP:0000032	Abnormality of male external genitalia	9049	AIP	ORPHA:963
HP:0000032	Abnormality of male external genitalia	9839	ZEB2	ORPHA:261537
HP:0000032	Abnormality of male external genitalia	9839	ZEB2	ORPHA:261552
HP:0000032	Abnormality of male external genitalia	9791	PTDSS1	OMIM:151050
HP:0000032	Abnormality of male external genitalia	374879	ZNF699	OMIM:619488
HP:0000032	Abnormality of male external genitalia	23028	KDM1A	ORPHA:477993
HP:0000032	Abnormality of male external genitalia	23028	KDM1A	OMIM:616728
HP:0000032	Abnormality of male external genitalia	7750	ZMYM2	OMIM:619522
HP:0000032	Abnormality of male external genitalia	9578	CDC42BPB	OMIM:619841
HP:0000032	Abnormality of male external genitalia	1349	COX7B	OMIM:309801
HP:0000032	Abnormality of male external genitalia	3052	HCCS	OMIM:309801
HP:0000032	Abnormality of male external genitalia	54539	NDUFB11	OMIM:309801
HP:0000032	Abnormality of male external genitalia	1859	DYRK1A	ORPHA:268261
HP:0000032	Abnormality of male external genitalia	833	CARS1	OMIM:618891
HP:0000032	Abnormality of male external genitalia	4659	PPP1R12A	OMIM:618820
HP:0000032	Abnormality of male external genitalia	1028	CDKN1C	ORPHA:397590
HP:0000032	Abnormality of male external genitalia	5324	PLAG1	ORPHA:397590
HP:0000032	Abnormality of male external genitalia	8091	HMGA2	ORPHA:397590
HP:0000032	Abnormality of male external genitalia	60	ACTB	ORPHA:64755
HP:0000032	Abnormality of male external genitalia	2737	GLI3	ORPHA:672
HP:0000032	Abnormality of male external genitalia	341640	FREM2	ORPHA:2052
HP:0000032	Abnormality of male external genitalia	80144	FRAS1	ORPHA:2052
HP:0000032	Abnormality of male external genitalia	23426	GRIP1	ORPHA:2052
HP:0000032	Abnormality of male external genitalia	23426	GRIP1	OMIM:617667
HP:0000032	Abnormality of male external genitalia	5447	POR	OMIM:201750
HP:0000032	Abnormality of male external genitalia	25782	RAB3GAP2	OMIM:614225
HP:0000032	Abnormality of male external genitalia	201595	STT3B	OMIM:615597
HP:0000032	Abnormality of male external genitalia	201595	STT3B	ORPHA:370924
HP:0000032	Abnormality of male external genitalia	22931	RAB18	OMIM:614222
HP:0000032	Abnormality of male external genitalia	29957	SLC25A24	OMIM:612289
HP:0000032	Abnormality of male external genitalia	10056	FARSB	OMIM:613658
HP:0000032	Abnormality of male external genitalia	7681	MKRN3	OMIM:176270
HP:0000032	Abnormality of male external genitalia	3653	IPW	OMIM:176270
HP:0000032	Abnormality of male external genitalia	54551	MAGEL2	OMIM:176270
HP:0000032	Abnormality of male external genitalia	54551	MAGEL2	ORPHA:98754
HP:0000032	Abnormality of male external genitalia	54551	MAGEL2	ORPHA:177904
HP:0000032	Abnormality of male external genitalia	54551	MAGEL2	ORPHA:177901
HP:0000032	Abnormality of male external genitalia	54551	MAGEL2	ORPHA:398069
HP:0000032	Abnormality of male external genitalia	791114	PWRN1	OMIM:176270
HP:0000032	Abnormality of male external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0000032	Abnormality of male external genitalia	8924	HERC2	OMIM:176270
HP:0000032	Abnormality of male external genitalia	145624	PWAR1	OMIM:176270
HP:0000032	Abnormality of male external genitalia	23742	NPAP1	OMIM:176270
HP:0000032	Abnormality of male external genitalia	338433	SNORD115-1	OMIM:176270
HP:0000032	Abnormality of male external genitalia	84172	POLR1B	ORPHA:861
HP:0000032	Abnormality of male external genitalia	9533	POLR1C	ORPHA:861
HP:0000032	Abnormality of male external genitalia	51082	POLR1D	ORPHA:861
HP:0000032	Abnormality of male external genitalia	6949	TCOF1	ORPHA:861
HP:0000032	Abnormality of male external genitalia	4983	OPHN1	OMIM:300486
HP:0000032	Abnormality of male external genitalia	51124	IER3IP1	OMIM:614231
HP:0000032	Abnormality of male external genitalia	23522	KAT6B	ORPHA:85201
HP:0000032	Abnormality of male external genitalia	23522	KAT6B	OMIM:606170
HP:0000032	Abnormality of male external genitalia	3664	IRF6	OMIM:119500
HP:0000032	Abnormality of male external genitalia	3664	IRF6	ORPHA:1300
HP:0000032	Abnormality of male external genitalia	84162	BLTP1	OMIM:617822
HP:0000032	Abnormality of male external genitalia	4010	LMX1B	ORPHA:495818
HP:0000032	Abnormality of male external genitalia	6812	STXBP1	ORPHA:495818
HP:0000032	Abnormality of male external genitalia	6492	SIM1	ORPHA:398079
HP:0000032	Abnormality of male external genitalia	22858	CILK1	OMIM:612651
HP:0000032	Abnormality of male external genitalia	6595	SMARCA2	ORPHA:2728
HP:0000032	Abnormality of male external genitalia	10982	MAPRE2	OMIM:616734
HP:0000032	Abnormality of male external genitalia	10982	MAPRE2	ORPHA:2505
HP:0000032	Abnormality of male external genitalia	5818	NECTIN1	ORPHA:3253
HP:0000032	Abnormality of male external genitalia	2068	ERCC2	OMIM:610756
HP:0000032	Abnormality of male external genitalia	6638	SNRPN	ORPHA:98754
HP:0000032	Abnormality of male external genitalia	6638	SNRPN	ORPHA:177904
HP:0000032	Abnormality of male external genitalia	6638	SNRPN	ORPHA:177901
HP:0000032	Abnormality of male external genitalia	4692	NDN	ORPHA:98754
HP:0000032	Abnormality of male external genitalia	4692	NDN	ORPHA:177904
HP:0000032	Abnormality of male external genitalia	4692	NDN	ORPHA:177901
HP:0000032	Abnormality of male external genitalia	4948	OCA2	ORPHA:98754
HP:0000032	Abnormality of male external genitalia	4948	OCA2	ORPHA:177904
HP:0000032	Abnormality of male external genitalia	4948	OCA2	ORPHA:177901
HP:0000032	Abnormality of male external genitalia	3703	STT3A	ORPHA:370921
HP:0000032	Abnormality of male external genitalia	7259	TSPYL1	ORPHA:168593
HP:0000032	Abnormality of male external genitalia	9968	MED12	OMIM:300895
HP:0000032	Abnormality of male external genitalia	546	ATRX	OMIM:309580
HP:0000032	Abnormality of male external genitalia	6261	RYR1	ORPHA:98905
HP:0000032	Abnormality of male external genitalia	7476	WNT7A	OMIM:276820
HP:0000032	Abnormality of male external genitalia	4621	MYH3	ORPHA:2990
HP:0000032	Abnormality of male external genitalia	1146	CHRNG	ORPHA:2990
HP:0000032	Abnormality of male external genitalia	84295	PHF6	ORPHA:127
HP:0000032	Abnormality of male external genitalia	79087	ALG12	OMIM:607143
HP:0000032	Abnormality of male external genitalia	3730	ANOS1	OMIM:308700
HP:0000032	Abnormality of male external genitalia	10908	PNPLA6	OMIM:245800
HP:0000032	Abnormality of male external genitalia	6926	TBX3	OMIM:181450
HP:0000032	Abnormality of male external genitalia	652	BMP4	OMIM:607932
HP:0000032	Abnormality of male external genitalia	8295	TRRAP	OMIM:618454
HP:0000032	Abnormality of male external genitalia	60529	ALX4	ORPHA:228390
HP:0000032	Abnormality of male external genitalia	128637	TBC1D20	OMIM:615663
HP:0000032	Abnormality of male external genitalia	203068	TUBB	ORPHA:2505
HP:0000032	Abnormality of male external genitalia	26040	SETBP1	OMIM:269150
HP:0000032	Abnormality of male external genitalia	23594	ORC6	OMIM:613803
HP:0000032	Abnormality of male external genitalia	6716	SRD5A2	ORPHA:753
HP:0000032	Abnormality of male external genitalia	26235	FBXL4	OMIM:615471
HP:0000032	Abnormality of male external genitalia	1947	EFNB1	ORPHA:1520
HP:0000032	Abnormality of male external genitalia	1947	EFNB1	OMIM:304110
HP:0000032	Abnormality of male external genitalia	23363	OBSL1	ORPHA:2616
HP:0000032	Abnormality of male external genitalia	83987	CCDC8	ORPHA:2616
HP:0000032	Abnormality of male external genitalia	81857	MED25	OMIM:616449
HP:0000032	Abnormality of male external genitalia	81857	MED25	ORPHA:464738
HP:0000032	Abnormality of male external genitalia	267010	RNU12	OMIM:603116
HP:0000032	Abnormality of male external genitalia	5932	RBBP8	OMIM:606744
HP:0000032	Abnormality of male external genitalia	116931	MED12L	OMIM:618872
HP:0000032	Abnormality of male external genitalia	8239	USP9X	OMIM:300919
HP:0000032	Abnormality of male external genitalia	5189	PEX1	OMIM:214100
HP:0000032	Abnormality of male external genitalia	5189	PEX1	ORPHA:912
HP:0000032	Abnormality of male external genitalia	4853	NOTCH2	OMIM:102500
HP:0000032	Abnormality of male external genitalia	4853	NOTCH2	ORPHA:955
HP:0000032	Abnormality of male external genitalia	7020	TFAP2A	OMIM:113620
HP:0000032	Abnormality of male external genitalia	1281	COL3A1	ORPHA:286
HP:0000032	Abnormality of male external genitalia	10815	CPLX1	ORPHA:280
HP:0000032	Abnormality of male external genitalia	10815	CPLX1	OMIM:194190
HP:0000032	Abnormality of male external genitalia	54872	PIGG	ORPHA:280
HP:0000032	Abnormality of male external genitalia	7469	NELFA	ORPHA:280
HP:0000032	Abnormality of male external genitalia	1487	CTBP1	ORPHA:280
HP:0000032	Abnormality of male external genitalia	1487	CTBP1	OMIM:194190
HP:0000032	Abnormality of male external genitalia	3954	LETM1	ORPHA:280
HP:0000032	Abnormality of male external genitalia	3954	LETM1	OMIM:194190
HP:0000032	Abnormality of male external genitalia	7468	NSD2	ORPHA:280
HP:0000032	Abnormality of male external genitalia	7468	NSD2	OMIM:194190
HP:0000032	Abnormality of male external genitalia	54968	TMEM70	OMIM:614052
HP:0000032	Abnormality of male external genitalia	54968	TMEM70	ORPHA:1194
HP:0000032	Abnormality of male external genitalia	57178	ZMIZ1	OMIM:618659
HP:0000032	Abnormality of male external genitalia	8642	DCHS1	OMIM:601390
HP:0000032	Abnormality of male external genitalia	8642	DCHS1	ORPHA:314679
HP:0000032	Abnormality of male external genitalia	2316	FLNA	ORPHA:90652
HP:0000032	Abnormality of male external genitalia	2316	FLNA	OMIM:304120
HP:0000032	Abnormality of male external genitalia	54888	NSUN2	ORPHA:235
HP:0000032	Abnormality of male external genitalia	54880	BCOR	OMIM:309800
HP:0000032	Abnormality of male external genitalia	54880	BCOR	ORPHA:568
HP:0000032	Abnormality of male external genitalia	54880	BCOR	OMIM:300166
HP:0000032	Abnormality of male external genitalia	54914	FOCAD	OMIM:619991
HP:0000032	Abnormality of male external genitalia	8363	H4C11	OMIM:619759
HP:0000032	Abnormality of male external genitalia	9772	TMEM94	OMIM:618316
HP:0000032	Abnormality of male external genitalia	9725	TMEM63A	OMIM:618688
HP:0000032	Abnormality of male external genitalia	6135	RPL11	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6138	RPL15	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6229	RPS24	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6125	RPL5	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6204	RPS10	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6224	RPS20	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6165	RPL35A	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6165	RPL35A	OMIM:612528
HP:0000032	Abnormality of male external genitalia	2623	GATA1	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6223	RPS19	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6232	RPS27	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6231	RPS26	ORPHA:124
HP:0000032	Abnormality of male external genitalia	11224	RPL35	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6160	RPL31	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6218	RPS17	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6201	RPS7	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6155	RPL27	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6154	RPL26	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6210	RPS15A	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6141	RPL18	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6235	RPS29	ORPHA:124
HP:0000032	Abnormality of male external genitalia	6234	RPS28	ORPHA:124
HP:0000032	Abnormality of male external genitalia	51816	ADA2	ORPHA:124
HP:0000032	Abnormality of male external genitalia	1523	CUX1	OMIM:618330
HP:0000032	Abnormality of male external genitalia	22827	PUF60	ORPHA:508498
HP:0000032	Abnormality of male external genitalia	6477	SIAH1	OMIM:619314
HP:0000032	Abnormality of male external genitalia	10765	KDM5B	OMIM:618109
HP:0000032	Abnormality of male external genitalia	5308	PITX2	ORPHA:782
HP:0000032	Abnormality of male external genitalia	5308	PITX2	OMIM:180500
HP:0000032	Abnormality of male external genitalia	2296	FOXC1	ORPHA:782
HP:0000032	Abnormality of male external genitalia	27125	AFF4	ORPHA:444077
HP:0000032	Abnormality of male external genitalia	29998	BICRA	OMIM:619325
HP:0000032	Abnormality of male external genitalia	3039	HBA1	ORPHA:98791
HP:0000032	Abnormality of male external genitalia	3040	HBA2	ORPHA:98791
HP:0000032	Abnormality of male external genitalia	6928	HNF1B	OMIM:137920
HP:0000032	Abnormality of male external genitalia	6928	HNF1B	ORPHA:93111
HP:0000032	Abnormality of male external genitalia	1312	COMT	ORPHA:567
HP:0000032	Abnormality of male external genitalia	221037	JMJD1C	ORPHA:567
HP:0000032	Abnormality of male external genitalia	2812	GP1BB	ORPHA:567
HP:0000032	Abnormality of male external genitalia	6239	RREB1	ORPHA:567
HP:0000032	Abnormality of male external genitalia	6899	TBX1	ORPHA:567
HP:0000032	Abnormality of male external genitalia	7290	HIRA	ORPHA:567
HP:0000032	Abnormality of male external genitalia	9632	SEC24C	ORPHA:567
HP:0000032	Abnormality of male external genitalia	7353	UFD1	ORPHA:567
HP:0000032	Abnormality of male external genitalia	421	ARVCF	ORPHA:567
HP:0000032	Abnormality of male external genitalia	10524	KAT5	OMIM:619103
HP:0000032	Abnormality of male external genitalia	8802	SUCLG1	ORPHA:17
HP:0000032	Abnormality of male external genitalia	4700	NDUFA6	OMIM:618253
HP:0000032	Abnormality of male external genitalia	5144	PDE4D	ORPHA:439822
HP:0000032	Abnormality of male external genitalia	5144	PDE4D	OMIM:614613
HP:0000032	Abnormality of male external genitalia	5144	PDE4D	ORPHA:280651
HP:0000032	Abnormality of male external genitalia	2475	MTOR	ORPHA:457485
HP:0000032	Abnormality of male external genitalia	145173	B3GLCT	OMIM:261540
HP:0000032	Abnormality of male external genitalia	145173	B3GLCT	ORPHA:709
HP:0000032	Abnormality of male external genitalia	673	BRAF	ORPHA:500
HP:0000032	Abnormality of male external genitalia	673	BRAF	OMIM:163950
HP:0000032	Abnormality of male external genitalia	5894	RAF1	ORPHA:500
HP:0000032	Abnormality of male external genitalia	2887	GRB10	ORPHA:96182
HP:0000032	Abnormality of male external genitalia	22995	CEP152	OMIM:613823
HP:0000032	Abnormality of male external genitalia	6748	SSR4	OMIM:300934
HP:0000032	Abnormality of male external genitalia	219844	HYLS1	OMIM:236680
HP:0000032	Abnormality of male external genitalia	55181	SMG8	OMIM:619268
HP:0000032	Abnormality of male external genitalia	3735	KARS1	OMIM:619147
HP:0000032	Abnormality of male external genitalia	4713	NDUFB7	OMIM:620135
HP:0000032	Abnormality of male external genitalia	4702	NDUFA8	OMIM:619272
HP:0000032	Abnormality of male external genitalia	10128	LRPPRC	OMIM:220111
HP:0000032	Abnormality of male external genitalia	2294	FOXF1	OMIM:265380
HP:0000032	Abnormality of male external genitalia	23556	PIGN	ORPHA:2059
HP:0000032	Abnormality of male external genitalia	29072	SETD2	ORPHA:821
HP:0000032	Abnormality of male external genitalia	10297	APC2	ORPHA:821
HP:0000032	Abnormality of male external genitalia	55780	ERMARD	ORPHA:75857
HP:0000032	Abnormality of male external genitalia	9382	COG1	OMIM:611209
HP:0000032	Abnormality of male external genitalia	57492	ARID1B	OMIM:135900
HP:0000032	Abnormality of male external genitalia	57492	ARID1B	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	1136	CHRNA3	OMIM:191800
HP:0000032	Abnormality of male external genitalia	672	BRCA1	ORPHA:84
HP:0000032	Abnormality of male external genitalia	10459	MAD2L2	ORPHA:84
HP:0000032	Abnormality of male external genitalia	29089	UBE2T	ORPHA:84
HP:0000032	Abnormality of male external genitalia	675	BRCA2	ORPHA:84
HP:0000032	Abnormality of male external genitalia	2175	FANCA	ORPHA:84
HP:0000032	Abnormality of male external genitalia	2176	FANCC	ORPHA:84
HP:0000032	Abnormality of male external genitalia	2178	FANCE	ORPHA:84
HP:0000032	Abnormality of male external genitalia	2189	FANCG	ORPHA:84
HP:0000032	Abnormality of male external genitalia	5888	RAD51	ORPHA:84
HP:0000032	Abnormality of male external genitalia	5889	RAD51C	ORPHA:84
HP:0000032	Abnormality of male external genitalia	55159	RFWD3	ORPHA:84
HP:0000032	Abnormality of male external genitalia	83990	BRIP1	ORPHA:84
HP:0000032	Abnormality of male external genitalia	79728	PALB2	ORPHA:84
HP:0000032	Abnormality of male external genitalia	84464	SLX4	ORPHA:84
HP:0000032	Abnormality of male external genitalia	55215	FANCI	ORPHA:84
HP:0000032	Abnormality of male external genitalia	7080	NKX2-1	ORPHA:209905
HP:0000032	Abnormality of male external genitalia	222663	SCUBE3	OMIM:619184
HP:0000032	Abnormality of male external genitalia	83879	CDCA7	OMIM:616910
HP:0000032	Abnormality of male external genitalia	53834	FGFRL1	OMIM:194190
HP:0000032	Abnormality of male external genitalia	5080	PAX6	OMIM:194072
HP:0000032	Abnormality of male external genitalia	5828	PEX2	OMIM:614866
HP:0000032	Abnormality of male external genitalia	5828	PEX2	ORPHA:912
HP:0000032	Abnormality of male external genitalia	57459	GATAD2B	ORPHA:363686
HP:0000032	Abnormality of male external genitalia	9652	SKIC3	OMIM:222470
HP:0000032	Abnormality of male external genitalia	5631	PRPS1	OMIM:300661
HP:0000032	Abnormality of male external genitalia	55670	PEX26	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5824	PEX19	ORPHA:912
HP:0000032	Abnormality of male external genitalia	8504	PEX3	ORPHA:912
HP:0000032	Abnormality of male external genitalia	8799	PEX11B	ORPHA:912
HP:0000032	Abnormality of male external genitalia	9409	PEX16	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5190	PEX6	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5830	PEX5	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5193	PEX12	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5194	PEX13	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5195	PEX14	ORPHA:912
HP:0000032	Abnormality of male external genitalia	5192	PEX10	ORPHA:912
HP:0000032	Abnormality of male external genitalia	10159	ATP6AP2	OMIM:301045
HP:0000032	Abnormality of male external genitalia	10586	MAB21L2	OMIM:615877
HP:0000032	Abnormality of male external genitalia	55209	SETD5	OMIM:615761
HP:0000032	Abnormality of male external genitalia	998	CDC42	OMIM:616737
HP:0000032	Abnormality of male external genitalia	998	CDC42	ORPHA:487796
HP:0000032	Abnormality of male external genitalia	8831	SYNGAP1	ORPHA:544254
HP:0000032	Abnormality of male external genitalia	6597	SMARCA4	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6598	SMARCB1	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6659	SOX4	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	8289	ARID1A	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	5977	DPF2	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6601	SMARCC2	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6602	SMARCD1	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	196528	ARID2	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6605	SMARCE1	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	6664	SOX11	ORPHA:1465
HP:0000032	Abnormality of male external genitalia	134701	RIPPLY2	ORPHA:2311
HP:0000032	Abnormality of male external genitalia	10683	DLL3	ORPHA:2311
HP:0000032	Abnormality of male external genitalia	3955	LFNG	ORPHA:2311
HP:0000032	Abnormality of male external genitalia	84667	HES7	ORPHA:2311
HP:0000032	Abnormality of male external genitalia	145873	MESP2	ORPHA:2311
HP:0000032	Abnormality of male external genitalia	25	ABL1	OMIM:617602
HP:0000032	Abnormality of male external genitalia	545	ATR	OMIM:210600
HP:0000032	Abnormality of male external genitalia	5116	PCNT	OMIM:210720
HP:0000032	Abnormality of male external genitalia	5723	PSPH	ORPHA:79350
HP:0000032	Abnormality of male external genitalia	1589	CYP21A2	OMIM:201910
HP:0000032	Abnormality of male external genitalia	4796	TONSL	ORPHA:93357
HP:0000032	Abnormality of male external genitalia	5879	RAC1	OMIM:617751
HP:0000032	Abnormality of male external genitalia	5879	RAC1	ORPHA:500159
HP:0000032	Abnormality of male external genitalia	51780	KDM3B	OMIM:618846
HP:0000032	Abnormality of male external genitalia	4724	NDUFS4	OMIM:252010
HP:0000032	Abnormality of male external genitalia	1468	SLC25A10	OMIM:618972
HP:0000032	Abnormality of male external genitalia	5604	MAP2K1	OMIM:163950
HP:0000032	Abnormality of male external genitalia	26128	KIFBP	ORPHA:66629
HP:0000032	Abnormality of male external genitalia	51733	UPB1	OMIM:613161
HP:0000032	Abnormality of male external genitalia	51651	PTRH2	OMIM:616263
HP:0000032	Abnormality of male external genitalia	51651	PTRH2	ORPHA:456312
HP:0000032	Abnormality of male external genitalia	3975	LHX1	ORPHA:261265
HP:0000032	Abnormality of male external genitalia	340533	NEXMIF	ORPHA:85277
HP:0000032	Abnormality of male external genitalia	54499	TMCO1	OMIM:213980
HP:0000032	Abnormality of male external genitalia	9496	TBX4	ORPHA:261279
HP:0000032	Abnormality of male external genitalia	23384	SPECC1L	OMIM:145420
HP:0000032	Abnormality of male external genitalia	23384	SPECC1L	ORPHA:1519
HP:0000032	Abnormality of male external genitalia	124512	METTL23	OMIM:615942
HP:0000032	Abnormality of male external genitalia	4000	LMNA	ORPHA:740
HP:0000032	Abnormality of male external genitalia	10269	ZMPSTE24	ORPHA:740
HP:0000032	Abnormality of male external genitalia	8087	FXR1	OMIM:618823
HP:0000032	Abnormality of male external genitalia	10274	STAG1	ORPHA:502434
HP:0000032	Abnormality of male external genitalia	4204	MECP2	OMIM:300055
HP:0000032	Abnormality of male external genitalia	4204	MECP2	ORPHA:3077
HP:0000032	Abnormality of male external genitalia	27316	RBMX	OMIM:300238
HP:0000032	Abnormality of male external genitalia	8367	H4C5	OMIM:619950
HP:0000032	Abnormality of male external genitalia	4763	NF1	ORPHA:139474
HP:0000032	Abnormality of male external genitalia	11141	IL1RAPL1	OMIM:300143
HP:0000032	Abnormality of male external genitalia	1193	CLIC2	OMIM:300886
HP:0000032	Abnormality of male external genitalia	1193	CLIC2	ORPHA:324410
HP:0000032	Abnormality of male external genitalia	175	AGA	OMIM:208400
HP:0000032	Abnormality of male external genitalia	175	AGA	ORPHA:93
HP:0000032	Abnormality of male external genitalia	51114	ZDHHC9	ORPHA:776
HP:0000032	Abnormality of male external genitalia	65109	UPF3B	ORPHA:776
HP:0000032	Abnormality of male external genitalia	7252	TSHB	ORPHA:90674
HP:0000032	Abnormality of male external genitalia	8294	H4C9	OMIM:619951
HP:0000032	Abnormality of male external genitalia	4750	NEK1	OMIM:263520
HP:0000032	Abnormality of male external genitalia	6938	TCF12	OMIM:619718
HP:0000032	Abnormality of male external genitalia	91801	ALKBH8	OMIM:618504
HP:0000032	Abnormality of male external genitalia	4281	MID1	OMIM:300000
HP:0000032	Abnormality of male external genitalia	374654	KIF7	OMIM:200990
HP:0000032	Abnormality of male external genitalia	58	ACTA1	ORPHA:171430
HP:0000032	Abnormality of male external genitalia	4703	NEB	ORPHA:171430
HP:0000032	Abnormality of male external genitalia	131377	KLHL40	ORPHA:171430
HP:0000032	Abnormality of male external genitalia	10324	KLHL41	ORPHA:171430
HP:0000032	Abnormality of male external genitalia	56203	LMOD3	ORPHA:171430
HP:0000032	Abnormality of male external genitalia	1723	DHODH	OMIM:263750
HP:0000032	Abnormality of male external genitalia	1841	DTYMK	OMIM:619847
HP:0000032	Abnormality of male external genitalia	56623	INPP5E	ORPHA:75858
HP:0000032	Abnormality of male external genitalia	56623	INPP5E	OMIM:610156
HP:0000032	Abnormality of male external genitalia	1161	ERCC8	OMIM:216400
HP:0000032	Abnormality of male external genitalia	1889	ECE1	OMIM:613870
HP:0000032	Abnormality of male external genitalia	2688	GH1	OMIM:612781
HP:0000032	Abnormality of male external genitalia	815	CAMK2A	OMIM:617798
HP:0000032	Abnormality of male external genitalia	84823	LMNB2	OMIM:619180
HP:0000032	Abnormality of male external genitalia	9896	FIG4	ORPHA:3472
HP:0000032	Abnormality of male external genitalia	9896	FIG4	OMIM:216340
HP:0000032	Abnormality of male external genitalia	55697	VAC14	ORPHA:3472
HP:0000032	Abnormality of male external genitalia	283987	HID1	OMIM:619983
HP:0000032	Abnormality of male external genitalia	1656	DDX6	OMIM:618653
HP:0000032	Abnormality of male external genitalia	132158	GLYCTK	OMIM:220120
HP:0000032	Abnormality of male external genitalia	55148	UBR7	OMIM:619189
HP:0000032	Abnormality of male external genitalia	1954	MEGF8	OMIM:614976
HP:0000032	Abnormality of male external genitalia	2783	GNB2	OMIM:619503
HP:0000032	Abnormality of male external genitalia	253738	EBF3	OMIM:617330
HP:0000032	Abnormality of male external genitalia	8879	SGPL1	OMIM:617575
HP:0000032	Abnormality of male external genitalia	10236	HNRNPR	OMIM:620073
HP:0000032	Abnormality of male external genitalia	79718	TBL1XR1	OMIM:602342
HP:0000032	Abnormality of male external genitalia	5700	PSMC1	OMIM:620071
HP:0000032	Abnormality of male external genitalia	79228	THOC6	ORPHA:363444
HP:0000032	Abnormality of male external genitalia	59336	PRDM13	OMIM:619761
HP:0000032	Abnormality of male external genitalia	5591	PRKDC	OMIM:615966
HP:0000032	Abnormality of male external genitalia	6925	TCF4	OMIM:610954
HP:0000032	Abnormality of male external genitalia	6925	TCF4	ORPHA:2896
HP:0000032	Abnormality of male external genitalia	3911	LAMA5	OMIM:620076
HP:0000032	Abnormality of male external genitalia	55120	FANCL	OMIM:614083
HP:0000032	Abnormality of male external genitalia	10661	KLF1	OMIM:613673
HP:0000032	Abnormality of male external genitalia	701	BUB1B	OMIM:257300
HP:0000032	Abnormality of male external genitalia	5781	PTPN11	OMIM:151100
HP:0000032	Abnormality of male external genitalia	54101	RIPK4	OMIM:263650
HP:0000032	Abnormality of male external genitalia	27152	INTU	OMIM:617925
HP:0000032	Abnormality of male external genitalia	27152	INTU	OMIM:617926
HP:0000032	Abnormality of male external genitalia	5426	POLE	OMIM:618336
HP:0000032	Abnormality of male external genitalia	7319	UBE2A	ORPHA:163956
HP:0000032	Abnormality of male external genitalia	7319	UBE2A	OMIM:300860
HP:0000032	Abnormality of male external genitalia	10535	RNASEH2A	ORPHA:51
HP:0000032	Abnormality of male external genitalia	84153	RNASEH2C	ORPHA:51
HP:0000032	Abnormality of male external genitalia	25939	SAMHD1	ORPHA:51
HP:0000032	Abnormality of male external genitalia	79621	RNASEH2B	ORPHA:51
HP:0000032	Abnormality of male external genitalia	103	ADAR	ORPHA:51
HP:0000032	Abnormality of male external genitalia	11277	TREX1	ORPHA:51
HP:0000032	Abnormality of male external genitalia	100147744	RNU7-1	ORPHA:51
HP:0000032	Abnormality of male external genitalia	100147744	RNU7-1	OMIM:619487
HP:0000032	Abnormality of male external genitalia	134353	LSM11	ORPHA:51
HP:0000032	Abnormality of male external genitalia	64135	IFIH1	ORPHA:51
HP:0000032	Abnormality of male external genitalia	6792	CDKL5	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	3736	KCNA1	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	9091	PIGQ	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	2775	GNAO1	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	81603	TRIM8	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	2902	GRIN1	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	79751	SLC25A22	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	150094	SIK1	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	8573	CASK	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	2917	GRM7	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	11284	PNKP	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	6326	SCN2A	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	51227	PIGP	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	6324	SCN1B	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	4761	NEUROD2	ORPHA:1934
HP:0000032	Abnormality of male external genitalia	10075	HUWE1	OMIM:309590
HP:0000032	Abnormality of male external genitalia	2074	ERCC6	OMIM:133540
HP:0000032	Abnormality of male external genitalia	10466	COG5	ORPHA:263487
HP:0000032	Abnormality of male external genitalia	56896	DPYSL5	OMIM:619435
HP:0000032	Abnormality of male external genitalia	2187	FANCB	OMIM:300514
HP:0000032	Abnormality of male external genitalia	100151683	RNU4ATAC	OMIM:210710
HP:0000032	Abnormality of male external genitalia	55593	OTUD5	OMIM:301056
HP:0000032	Abnormality of male external genitalia	113179	ADAT3	ORPHA:363528
HP:0000032	Abnormality of male external genitalia	55784	MCTP2	ORPHA:1596
HP:0000032	Abnormality of male external genitalia	1363	CPE	OMIM:619326
HP:0000032	Abnormality of male external genitalia	29925	GMPPB	ORPHA:370968
HP:0000032	Abnormality of male external genitalia	8925	HERC1	ORPHA:457359
HP:0000032	Abnormality of male external genitalia	7874	USP7	OMIM:616863
HP:0000032	Abnormality of male external genitalia	7874	USP7	ORPHA:500055
HP:0000032	Abnormality of male external genitalia	1108	CHD4	OMIM:617159
HP:0000032	Abnormality of male external genitalia	1000	CDH2	OMIM:618929
HP:0000032	Abnormality of male external genitalia	80311	KLHL15	OMIM:300982
HP:0000032	Abnormality of male external genitalia	1641	DCX	OMIM:300067
HP:0000032	Abnormality of male external genitalia	7317	UBA1	OMIM:301830
HP:0000032	Abnormality of male external genitalia	5277	PIGA	OMIM:300868
HP:0000032	Abnormality of male external genitalia	55210	ATAD3A	OMIM:618810
HP:0000032	Abnormality of male external genitalia	79633	FAT4	OMIM:615546
HP:0000032	Abnormality of male external genitalia	4990	SIX6	OMIM:206900
HP:0000032	Abnormality of male external genitalia	9851	KIAA0753	OMIM:619479
HP:0000032	Abnormality of male external genitalia	2892	GRIA3	ORPHA:364028
HP:0000032	Abnormality of male external genitalia	348180	CTU2	OMIM:618142
HP:0000032	Abnormality of male external genitalia	340419	RSPO2	OMIM:618021
HP:0000032	Abnormality of male external genitalia	6711	SPTBN1	OMIM:619475
HP:0000032	Abnormality of male external genitalia	95681	CEP41	OMIM:614464
HP:0000032	Abnormality of male external genitalia	6608	SMO	OMIM:241800
HP:0000032	Abnormality of male external genitalia	80152	CENPT	OMIM:618702
HP:0000032	Abnormality of male external genitalia	80036	TRPM3	OMIM:620224
HP:0000032	Abnormality of male external genitalia	2132	EXT2	ORPHA:52022
HP:0000032	Abnormality of male external genitalia	51317	PHF21A	ORPHA:52022
HP:0000032	Abnormality of male external genitalia	8567	MADD	OMIM:619004
HP:0000032	Abnormality of male external genitalia	8567	MADD	OMIM:619005
HP:0000032	Abnormality of male external genitalia	202018	TAPT1	OMIM:616897
HP:0000032	Abnormality of male external genitalia	2177	FANCD2	OMIM:227646
HP:0000032	Abnormality of male external genitalia	4047	LSS	OMIM:618840
HP:0000032	Abnormality of male external genitalia	23247	KATNIP	OMIM:616784
HP:0000032	Abnormality of male external genitalia	9786	KIAA0586	OMIM:616546
HP:0000032	Abnormality of male external genitalia	5718	PSMD12	OMIM:617516
HP:0000032	Abnormality of male external genitalia	5087	PBX1	OMIM:617641
HP:0000032	Abnormality of male external genitalia	523	ATP6V1A	OMIM:617403
HP:0000032	Abnormality of male external genitalia	529	ATP6V1E1	OMIM:617402
HP:0000032	Abnormality of male external genitalia	3209	HOXA13	OMIM:176305
HP:0000032	Abnormality of male external genitalia	8195	MKKS	ORPHA:2473
HP:0000032	Abnormality of male external genitalia	389827	MYMK	ORPHA:1358
HP:0000032	Abnormality of male external genitalia	101929726	MYMX	ORPHA:1358
HP:0000032	Abnormality of male external genitalia	1717	DHCR7	OMIM:270400
HP:0000032	Abnormality of male external genitalia	372	ARCN1	OMIM:617164
HP:0000032	Abnormality of male external genitalia	10584	COLEC10	OMIM:248340
HP:0000032	Abnormality of male external genitalia	1009	CDH11	ORPHA:1299
HP:0000032	Abnormality of male external genitalia	1009	CDH11	OMIM:211380
HP:0000032	Abnormality of male external genitalia	55612	FERMT1	OMIM:173650
HP:0000032	Abnormality of male external genitalia	55612	FERMT1	ORPHA:2908
HP:0000032	Abnormality of male external genitalia	10664	CTCF	ORPHA:363611
HP:0000032	Abnormality of male external genitalia	1588	CYP19A1	ORPHA:91
HP:0000032	Abnormality of male external genitalia	3187	HNRNPH1	OMIM:620083
HP:0000032	Abnormality of male external genitalia	57724	EPG5	OMIM:242840
HP:0000032	Abnormality of male external genitalia	10046	MAMLD1	ORPHA:456328
HP:0000032	Abnormality of male external genitalia	4534	MTM1	ORPHA:456328
HP:0000032	Abnormality of male external genitalia	2263	FGFR2	ORPHA:1555
HP:0000032	Abnormality of male external genitalia	2263	FGFR2	OMIM:123790
HP:0000032	Abnormality of male external genitalia	6794	STK11	OMIM:175200
HP:0000032	Abnormality of male external genitalia	2332	FMR1	OMIM:300624
HP:0000032	Abnormality of male external genitalia	3476	IGBP1	OMIM:300472
HP:0000032	Abnormality of male external genitalia	2245	FGD1	OMIM:305400
HP:0000032	Abnormality of male external genitalia	1387	CREBBP	OMIM:180849
HP:0000032	Abnormality of male external genitalia	2033	EP300	OMIM:180849
HP:0000032	Abnormality of male external genitalia	26137	ZBTB20	OMIM:259050
HP:0000032	Abnormality of male external genitalia	26137	ZBTB20	ORPHA:3042
HP:0000032	Abnormality of male external genitalia	55610	VPS50	OMIM:619685
HP:0000032	Abnormality of male external genitalia	2222	FDFT1	OMIM:618156
HP:0000032	Abnormality of male external genitalia	4953	ODC1	ORPHA:544488
HP:0000032	Abnormality of male external genitalia	7291	TWIST1	OMIM:617746
HP:0000032	Abnormality of male external genitalia	50485	SMARCAL1	OMIM:242900
HP:0000032	Abnormality of male external genitalia	10667	FARS2	ORPHA:466722
HP:0000032	Abnormality of male external genitalia	4841	NONO	ORPHA:466791
HP:0000032	Abnormality of male external genitalia	55870	ASH1L	OMIM:617796
HP:0000032	Abnormality of male external genitalia	7994	KAT6A	OMIM:616268
HP:0000032	Abnormality of male external genitalia	5648	MASP1	ORPHA:293843
HP:0000032	Abnormality of male external genitalia	78989	COLEC11	ORPHA:293843
HP:0000032	Abnormality of male external genitalia	5147	PDE6D	ORPHA:2754
HP:0000032	Abnormality of male external genitalia	65250	CPLANE1	ORPHA:2754
HP:0000032	Abnormality of male external genitalia	317662	FAM149B1	ORPHA:2754
HP:0000032	Abnormality of male external genitalia	404672	GTF2H5	OMIM:616395
HP:0000032	Abnormality of male external genitalia	22884	WDR37	OMIM:618652
HP:0000032	Abnormality of male external genitalia	4174	MCM5	OMIM:617564
HP:0000032	Abnormality of male external genitalia	4081	MAB21L1	OMIM:618479
HP:0000032	Abnormality of male external genitalia	1586	CYP17A1	ORPHA:90796
HP:0000032	Abnormality of male external genitalia	1586	CYP17A1	ORPHA:90793
HP:0000032	Abnormality of male external genitalia	3293	HSD17B3	OMIM:264300
HP:0000032	Abnormality of male external genitalia	81848	SPRY4	ORPHA:432
HP:0000032	Abnormality of male external genitalia	81848	SPRY4	OMIM:146110
HP:0000032	Abnormality of male external genitalia	81848	SPRY4	ORPHA:478
HP:0000032	Abnormality of male external genitalia	128674	PROKR2	ORPHA:432
HP:0000032	Abnormality of male external genitalia	128674	PROKR2	ORPHA:478
HP:0000032	Abnormality of male external genitalia	2253	FGF8	ORPHA:432
HP:0000032	Abnormality of male external genitalia	2253	FGF8	ORPHA:478
HP:0000032	Abnormality of male external genitalia	60675	PROK2	ORPHA:432
HP:0000032	Abnormality of male external genitalia	60675	PROK2	OMIM:610628
HP:0000032	Abnormality of male external genitalia	60675	PROK2	ORPHA:478
HP:0000032	Abnormality of male external genitalia	55636	CHD7	ORPHA:432
HP:0000032	Abnormality of male external genitalia	55636	CHD7	ORPHA:478
HP:0000032	Abnormality of male external genitalia	1848	DUSP6	ORPHA:432
HP:0000032	Abnormality of male external genitalia	1848	DUSP6	OMIM:146110
HP:0000032	Abnormality of male external genitalia	1848	DUSP6	ORPHA:478
HP:0000032	Abnormality of male external genitalia	26012	NSMF	ORPHA:432
HP:0000032	Abnormality of male external genitalia	26012	NSMF	OMIM:614838
HP:0000032	Abnormality of male external genitalia	55717	WDR11	ORPHA:432
HP:0000032	Abnormality of male external genitalia	55717	WDR11	OMIM:146110
HP:0000032	Abnormality of male external genitalia	55717	WDR11	OMIM:614858
HP:0000032	Abnormality of male external genitalia	55717	WDR11	ORPHA:478
HP:0000032	Abnormality of male external genitalia	9394	HS6ST1	ORPHA:432
HP:0000032	Abnormality of male external genitalia	9394	HS6ST1	OMIM:614880
HP:0000032	Abnormality of male external genitalia	9394	HS6ST1	ORPHA:478
HP:0000032	Abnormality of male external genitalia	2796	GNRH1	ORPHA:432
HP:0000032	Abnormality of male external genitalia	2796	GNRH1	OMIM:614841
HP:0000032	Abnormality of male external genitalia	2796	GNRH1	OMIM:146110
HP:0000032	Abnormality of male external genitalia	2798	GNRHR	ORPHA:432
HP:0000032	Abnormality of male external genitalia	2798	GNRHR	OMIM:146110
HP:0000032	Abnormality of male external genitalia	84634	KISS1R	ORPHA:432
HP:0000032	Abnormality of male external genitalia	84634	KISS1R	OMIM:614837
HP:0000032	Abnormality of male external genitalia	6866	TAC3	ORPHA:432
HP:0000032	Abnormality of male external genitalia	8822	FGF17	ORPHA:432
HP:0000032	Abnormality of male external genitalia	8822	FGF17	OMIM:146110
HP:0000032	Abnormality of male external genitalia	8822	FGF17	ORPHA:478
HP:0000032	Abnormality of male external genitalia	3814	KISS1	ORPHA:432
HP:0000032	Abnormality of male external genitalia	6658	SOX3	ORPHA:393
HP:0000032	Abnormality of male external genitalia	6658	SOX3	ORPHA:90695
HP:0000032	Abnormality of male external genitalia	8450	CUL4B	OMIM:300354
HP:0000032	Abnormality of male external genitalia	8450	CUL4B	ORPHA:85293
HP:0000032	Abnormality of male external genitalia	3763	KCNJ6	ORPHA:435628
HP:0000032	Abnormality of male external genitalia	6134	RPL10	OMIM:300998
HP:0000032	Abnormality of male external genitalia	6134	RPL10	ORPHA:459070
HP:0000032	Abnormality of male external genitalia	8473	OGT	OMIM:300997
HP:0000032	Abnormality of male external genitalia	23314	SATB2	ORPHA:251028
HP:0000032	Abnormality of male external genitalia	23314	SATB2	ORPHA:251019
HP:0000032	Abnormality of male external genitalia	84515	MCM8	OMIM:612885
HP:0000032	Abnormality of male external genitalia	1736	DKC1	OMIM:305000
HP:0000032	Abnormality of male external genitalia	1131	CHRM3	ORPHA:2970
HP:0000032	Abnormality of male external genitalia	2200	FBN1	ORPHA:284979
HP:0000032	Abnormality of male external genitalia	7258	TSPY1	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	57055	DAZ2	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	57135	DAZ4	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	8287	USP9Y	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	5940	RBMY1A1	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	57054	DAZ3	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	8653	DDX3Y	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	1617	DAZ1	ORPHA:1646
HP:0000032	Abnormality of male external genitalia	10084	PQBP1	ORPHA:93950
HP:0000032	Abnormality of male external genitalia	10084	PQBP1	OMIM:309500
HP:0000032	Abnormality of male external genitalia	9150	CTDP1	OMIM:604168
HP:0000032	Abnormality of male external genitalia	55869	HDAC8	OMIM:300882
HP:0000032	Abnormality of male external genitalia	201134	CEP112	OMIM:619044
HP:0000032	Abnormality of male external genitalia	8882	ZPR1	OMIM:619321
HP:0000032	Abnormality of male external genitalia	131118	DNAJC19	OMIM:610198
HP:0000032	Abnormality of male external genitalia	140801	RPL10L	OMIM:619689
HP:0000032	Abnormality of male external genitalia	3952	LEP	ORPHA:66628
HP:0000032	Abnormality of male external genitalia	3952	LEP	OMIM:614962
HP:0000032	Abnormality of male external genitalia	7298	TYMS	OMIM:620040
HP:0000032	Abnormality of male external genitalia	170302	ARX	OMIM:300215
HP:0000032	Abnormality of male external genitalia	51132	RLIM	OMIM:300978
HP:0000032	Abnormality of male external genitalia	57697	FANCM	OMIM:618086
HP:0000032	Abnormality of male external genitalia	57697	FANCM	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	8260	NAA10	OMIM:300855
HP:0000032	Abnormality of male external genitalia	84100	ARL6	OMIM:209900
HP:0000032	Abnormality of male external genitalia	79140	CCDC28B	OMIM:209900
HP:0000032	Abnormality of male external genitalia	582	BBS1	OMIM:209900
HP:0000032	Abnormality of male external genitalia	79184	BRCC3	ORPHA:280679
HP:0000032	Abnormality of male external genitalia	284654	RSPO1	OMIM:610644
HP:0000032	Abnormality of male external genitalia	9820	CUL7	OMIM:273750
HP:0000032	Abnormality of male external genitalia	23116	TOGARAM1	OMIM:619185
HP:0000032	Abnormality of male external genitalia	55630	SLC39A4	OMIM:201100
HP:0000032	Abnormality of male external genitalia	23312	DMXL2	OMIM:616113
HP:0000032	Abnormality of male external genitalia	23312	DMXL2	ORPHA:453533
HP:0000032	Abnormality of male external genitalia	56154	TEX15	OMIM:617960
HP:0000032	Abnormality of male external genitalia	56154	TEX15	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	6885	MAP3K7	OMIM:157800
HP:0000032	Abnormality of male external genitalia	9723	SEMA3E	OMIM:146110
HP:0000032	Abnormality of male external genitalia	558	AXL	OMIM:146110
HP:0000032	Abnormality of male external genitalia	10011	SRA1	OMIM:146110
HP:0000032	Abnormality of male external genitalia	285025	CCDC141	OMIM:146110
HP:0000032	Abnormality of male external genitalia	285025	CCDC141	ORPHA:478
HP:0000032	Abnormality of male external genitalia	389549	FEZF1	OMIM:146110
HP:0000032	Abnormality of male external genitalia	389549	FEZF1	OMIM:616030
HP:0000032	Abnormality of male external genitalia	389549	FEZF1	ORPHA:478
HP:0000032	Abnormality of male external genitalia	3953	LEPR	ORPHA:179494
HP:0000032	Abnormality of male external genitalia	340719	NANOS1	ORPHA:399808
HP:0000032	Abnormality of male external genitalia	340719	NANOS1	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	7737	RNF113A	OMIM:300953
HP:0000032	Abnormality of male external genitalia	80067	DCAF17	ORPHA:3464
HP:0000032	Abnormality of male external genitalia	80067	DCAF17	OMIM:241080
HP:0000032	Abnormality of male external genitalia	5626	PROP1	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	5626	PROP1	ORPHA:90695
HP:0000032	Abnormality of male external genitalia	2736	GLI2	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	89884	LHX4	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	3170	FOXA2	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	5449	POU1F1	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	8820	HESX1	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	8820	HESX1	ORPHA:478
HP:0000032	Abnormality of male external genitalia	5015	OTX2	ORPHA:95494
HP:0000032	Abnormality of male external genitalia	11041	B4GAT1	OMIM:615287
HP:0000032	Abnormality of male external genitalia	26227	PHGDH	OMIM:601815
HP:0000032	Abnormality of male external genitalia	154197	PNLDC1	OMIM:619528
HP:0000032	Abnormality of male external genitalia	154197	PNLDC1	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	57704	GBA2	ORPHA:320391
HP:0000032	Abnormality of male external genitalia	5422	POLA1	ORPHA:163976
HP:0000032	Abnormality of male external genitalia	6875	TAF4B	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	56155	TEX14	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	7516	XRCC2	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	7516	XRCC2	OMIM:619145
HP:0000032	Abnormality of male external genitalia	254528	MEIOB	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	91057	CCDC34	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	317719	KLHL10	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	56159	TEX11	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	1080	CFTR	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	84225	ZMYND15	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	122402	TDRD9	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	93426	SYCE1	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	50511	SYCP3	ORPHA:399805
HP:0000032	Abnormality of male external genitalia	5373	PMM2	ORPHA:79318
HP:0000032	Abnormality of male external genitalia	8242	KDM5C	OMIM:300534
HP:0000032	Abnormality of male external genitalia	8242	KDM5C	ORPHA:85279
HP:0000032	Abnormality of male external genitalia	51360	MBTPS2	ORPHA:85284
HP:0000032	Abnormality of male external genitalia	23133	PHF8	ORPHA:85287
HP:0000032	Abnormality of male external genitalia	55315	SLC29A3	ORPHA:168569
HP:0000032	Abnormality of male external genitalia	10371	SEMA3A	OMIM:614897
HP:0000032	Abnormality of male external genitalia	10371	SEMA3A	ORPHA:478
HP:0000032	Abnormality of male external genitalia	63901	FAM111A	ORPHA:93325
HP:0000032	Abnormality of male external genitalia	23767	FLRT3	ORPHA:478
HP:0000032	Abnormality of male external genitalia	79625	NDNF	ORPHA:478
HP:0000032	Abnormality of male external genitalia	1630	DCC	ORPHA:478
HP:0000032	Abnormality of male external genitalia	54756	IL17RD	ORPHA:478
HP:0000032	Abnormality of male external genitalia	6663	SOX10	ORPHA:478
HP:0000032	Abnormality of male external genitalia	7507	XPA	ORPHA:910
HP:0000032	Abnormality of male external genitalia	2071	ERCC3	ORPHA:910
HP:0000032	Abnormality of male external genitalia	7508	XPC	ORPHA:910
HP:0000032	Abnormality of male external genitalia	1643	DDB2	ORPHA:910
HP:0000032	Abnormality of male external genitalia	2072	ERCC4	ORPHA:910
HP:0000032	Abnormality of male external genitalia	2073	ERCC5	ORPHA:910
HP:0000032	Abnormality of male external genitalia	92840	REEP6	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6094	ROM1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6017	RLBP1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	7401	CLRN1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	24	ABCA4	ORPHA:791
HP:0000032	Abnormality of male external genitalia	130557	ZNF513	ORPHA:791
HP:0000032	Abnormality of male external genitalia	92211	CDHR1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	23568	ARL2BP	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6121	RPE65	ORPHA:791
HP:0000032	Abnormality of male external genitalia	54806	AHI1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6101	RP1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	3419	IDH3A	ORPHA:791
HP:0000032	Abnormality of male external genitalia	4751	NEK2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	346007	EYS	ORPHA:791
HP:0000032	Abnormality of male external genitalia	8100	IFT88	ORPHA:791
HP:0000032	Abnormality of male external genitalia	23020	SNRNP200	ORPHA:791
HP:0000032	Abnormality of male external genitalia	762	CA4	ORPHA:791
HP:0000032	Abnormality of male external genitalia	138050	HGSNAT	ORPHA:791
HP:0000032	Abnormality of male external genitalia	196	AHR	ORPHA:791
HP:0000032	Abnormality of male external genitalia	3614	IMPDH1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	123016	TTC8	ORPHA:791
HP:0000032	Abnormality of male external genitalia	123016	TTC8	ORPHA:110
HP:0000032	Abnormality of male external genitalia	6103	RPGR	ORPHA:791
HP:0000032	Abnormality of male external genitalia	1406	CRX	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5148	PDE6G	ORPHA:791
HP:0000032	Abnormality of male external genitalia	26160	IFT172	ORPHA:791
HP:0000032	Abnormality of male external genitalia	26160	IFT172	ORPHA:110
HP:0000032	Abnormality of male external genitalia	26121	PRPF31	ORPHA:791
HP:0000032	Abnormality of male external genitalia	583	BBS2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	583	BBS2	ORPHA:110
HP:0000032	Abnormality of male external genitalia	4117	MAK	ORPHA:791
HP:0000032	Abnormality of male external genitalia	25794	FSCN2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	375298	CERKL	ORPHA:791
HP:0000032	Abnormality of male external genitalia	3420	IDH3B	ORPHA:791
HP:0000032	Abnormality of male external genitalia	57670	KIAA1549	ORPHA:791
HP:0000032	Abnormality of male external genitalia	7275	TUB	ORPHA:791
HP:0000032	Abnormality of male external genitalia	24148	PRPF6	ORPHA:791
HP:0000032	Abnormality of male external genitalia	23418	CRB1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	10461	MERTK	ORPHA:791
HP:0000032	Abnormality of male external genitalia	57709	SLC7A14	ORPHA:791
HP:0000032	Abnormality of male external genitalia	768206	PRCD	ORPHA:791
HP:0000032	Abnormality of male external genitalia	7399	USH2A	ORPHA:791
HP:0000032	Abnormality of male external genitalia	23370	ARHGEF18	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5949	RBP3	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6010	RHO	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6100	RP9	ORPHA:791
HP:0000032	Abnormality of male external genitalia	10002	NR2E3	ORPHA:791
HP:0000032	Abnormality of male external genitalia	9227	LRAT	ORPHA:791
HP:0000032	Abnormality of male external genitalia	84140	FAM161A	ORPHA:791
HP:0000032	Abnormality of male external genitalia	55812	SPATA7	ORPHA:791
HP:0000032	Abnormality of male external genitalia	55624	POMGNT1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	55624	POMGNT1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	79797	ZNF408	ORPHA:791
HP:0000032	Abnormality of male external genitalia	403	ARL3	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5145	PDE6A	ORPHA:791
HP:0000032	Abnormality of male external genitalia	10210	TOPORS	ORPHA:791
HP:0000032	Abnormality of male external genitalia	8842	PROM1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	9128	PRPF4	ORPHA:791
HP:0000032	Abnormality of male external genitalia	145226	RDH12	ORPHA:791
HP:0000032	Abnormality of male external genitalia	50939	IMPG2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	8481	OFD1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	49855	SCAPER	ORPHA:791
HP:0000032	Abnormality of male external genitalia	49855	SCAPER	ORPHA:110
HP:0000032	Abnormality of male external genitalia	9742	IFT140	ORPHA:791
HP:0000032	Abnormality of male external genitalia	2979	GUCA1B	ORPHA:791
HP:0000032	Abnormality of male external genitalia	1259	CNGA1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	1258	CNGB1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	60509	AGBL5	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5961	PRPH2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	388939	PCARE	ORPHA:791
HP:0000032	Abnormality of male external genitalia	7439	BEST1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	9785	DHX38	ORPHA:791
HP:0000032	Abnormality of male external genitalia	7287	TULP1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5995	RGR	ORPHA:791
HP:0000032	Abnormality of male external genitalia	9129	PRPF3	ORPHA:791
HP:0000032	Abnormality of male external genitalia	55975	KLHL7	ORPHA:791
HP:0000032	Abnormality of male external genitalia	3617	IMPG1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	94137	RP1L1	ORPHA:791
HP:0000032	Abnormality of male external genitalia	5158	PDE6B	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6102	RP2	ORPHA:791
HP:0000032	Abnormality of male external genitalia	55857	KIZ	ORPHA:791
HP:0000032	Abnormality of male external genitalia	64218	SEMA4A	ORPHA:791
HP:0000032	Abnormality of male external genitalia	4901	NRL	ORPHA:791
HP:0000032	Abnormality of male external genitalia	157657	CFAP418	ORPHA:791
HP:0000032	Abnormality of male external genitalia	157657	CFAP418	ORPHA:110
HP:0000032	Abnormality of male external genitalia	10594	PRPF8	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6295	SAG	ORPHA:791
HP:0000032	Abnormality of male external genitalia	79947	DHDDS	ORPHA:791
HP:0000032	Abnormality of male external genitalia	6309	SC5D	ORPHA:46059
HP:0000032	Abnormality of male external genitalia	7518	XRCC4	ORPHA:99812
HP:0000032	Abnormality of male external genitalia	3981	LIG4	ORPHA:99812
HP:0000032	Abnormality of male external genitalia	55777	MBD5	ORPHA:228402
HP:0000032	Abnormality of male external genitalia	79813	EHMT1	ORPHA:96147
HP:0000032	Abnormality of male external genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000032	Abnormality of male external genitalia	57560	IFT80	ORPHA:93271
HP:0000032	Abnormality of male external genitalia	57539	WDR35	ORPHA:93271
HP:0000032	Abnormality of male external genitalia	79659	DYNC2H1	ORPHA:93271
HP:0000032	Abnormality of male external genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000032	Abnormality of male external genitalia	6905	TBCE	ORPHA:2323
HP:0000032	Abnormality of male external genitalia	8085	KMT2D	ORPHA:2322
HP:0000032	Abnormality of male external genitalia	7403	KDM6A	ORPHA:2322
HP:0000032	Abnormality of male external genitalia	129563	DIS3L2	ORPHA:2849
HP:0000032	Abnormality of male external genitalia	84892	POMGNT2	ORPHA:899
HP:0000032	Abnormality of male external genitalia	148789	B3GALNT2	ORPHA:899
HP:0000032	Abnormality of male external genitalia	79147	FKRP	ORPHA:899
HP:0000032	Abnormality of male external genitalia	29954	POMT2	ORPHA:899
HP:0000032	Abnormality of male external genitalia	9215	LARGE1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	1282	COL4A1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	729920	CRPPA	ORPHA:899
HP:0000032	Abnormality of male external genitalia	10329	RXYLT1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	1605	DAG1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	10585	POMT1	ORPHA:899
HP:0000032	Abnormality of male external genitalia	84197	POMK	ORPHA:899
HP:0000032	Abnormality of male external genitalia	2218	FKTN	ORPHA:899
HP:0000032	Abnormality of male external genitalia	28514	DLL1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	6496	SIX3	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	7050	TGIF1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	4838	NODAL	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	6469	SHH	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	51684	SUFU	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	7546	ZIC2	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	2619	GAS1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	84976	DISP1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	8928	FOXH1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	5727	PTCH1	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	50937	CDON	ORPHA:280200
HP:0000032	Abnormality of male external genitalia	50937	CDON	ORPHA:95496
HP:0000032	Abnormality of male external genitalia	6657	SOX2	ORPHA:77298
HP:0000032	Abnormality of male external genitalia	6657	SOX2	ORPHA:3157
HP:0000032	Abnormality of male external genitalia	64359	NXN	ORPHA:1507
HP:0000032	Abnormality of male external genitalia	4920	ROR2	ORPHA:1507
HP:0000032	Abnormality of male external genitalia	8626	TP63	ORPHA:93930
HP:0000032	Abnormality of male external genitalia	3670	ISL1	ORPHA:93930
HP:0000032	Abnormality of male external genitalia	81620	CDT1	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	5000	ORC4	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	8318	CDC45	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	990	CDC6	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	4998	ORC1	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	51053	GMNN	ORPHA:2554
HP:0000032	Abnormality of male external genitalia	197131	UBR1	ORPHA:2315
HP:0000032	Abnormality of male external genitalia	23476	BRD4	ORPHA:199
HP:0000032	Abnormality of male external genitalia	9126	SMC3	ORPHA:199
HP:0000032	Abnormality of male external genitalia	8243	SMC1A	ORPHA:199
HP:0000032	Abnormality of male external genitalia	25836	NIPBL	ORPHA:199
HP:0000032	Abnormality of male external genitalia	5885	RAD21	ORPHA:199
HP:0000032	Abnormality of male external genitalia	92482	BBIP1	ORPHA:110
HP:0000032	Abnormality of male external genitalia	11020	IFT27	ORPHA:110
HP:0000032	Abnormality of male external genitalia	4867	NPHP1	ORPHA:110
HP:0000032	Abnormality of male external genitalia	51057	WDPCP	ORPHA:110
HP:0000032	Abnormality of male external genitalia	27241	BBS9	ORPHA:110
HP:0000032	Abnormality of male external genitalia	84984	CEP19	ORPHA:110
HP:0000032	Abnormality of male external genitalia	22954	TRIM32	ORPHA:110
HP:0000032	Abnormality of male external genitalia	79738	BBS10	ORPHA:110
HP:0000032	Abnormality of male external genitalia	585	BBS4	ORPHA:110
HP:0000032	Abnormality of male external genitalia	54585	LZTFL1	ORPHA:110
HP:0000032	Abnormality of male external genitalia	55212	BBS7	ORPHA:110
HP:0000032	Abnormality of male external genitalia	166379	BBS12	ORPHA:110
HP:0000032	Abnormality of male external genitalia	10806	SDCCAG8	ORPHA:110
HP:0000032	Abnormality of male external genitalia	129880	BBS5	ORPHA:110
HP:0000032	Abnormality of male external genitalia	80173	IFT74	ORPHA:110
HP:0000032	Abnormality of male external genitalia	5396	PRRX1	ORPHA:990
HP:0000032	Abnormality of male external genitalia	23347	SMCHD1	ORPHA:2250
HP:0000032	Abnormality of male external genitalia	5048	PAFAH1B1	ORPHA:217385
HP:0000032	Abnormality of male external genitalia	7531	YWHAE	ORPHA:217385
HP:0000032	Abnormality of male external genitalia	6804	STX1A	ORPHA:904
HP:0000032	Abnormality of male external genitalia	7461	CLIP2	ORPHA:904
HP:0000032	Abnormality of male external genitalia	84277	DNAJC30	ORPHA:904
HP:0000032	Abnormality of male external genitalia	8468	FKBP6	ORPHA:904
HP:0000032	Abnormality of male external genitalia	5982	RFC2	ORPHA:904
HP:0000032	Abnormality of male external genitalia	2969	GTF2I	ORPHA:904
HP:0000032	Abnormality of male external genitalia	3984	LIMK1	ORPHA:904
HP:0000032	Abnormality of male external genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000032	Abnormality of male external genitalia	155382	VPS37D	ORPHA:904
HP:0000032	Abnormality of male external genitalia	155368	METTL27	ORPHA:904
HP:0000032	Abnormality of male external genitalia	114049	BUD23	ORPHA:904
HP:0000032	Abnormality of male external genitalia	7458	EIF4H	ORPHA:904
HP:0000032	Abnormality of male external genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000032	Abnormality of male external genitalia	9275	BCL7B	ORPHA:904
HP:0000032	Abnormality of male external genitalia	26608	TBL2	ORPHA:904
HP:0000032	Abnormality of male external genitalia	653361	NCF1	ORPHA:904
HP:0000032	Abnormality of male external genitalia	135886	TMEM270	ORPHA:904
HP:0000032	Abnormality of male external genitalia	51085	MLXIPL	ORPHA:904
HP:0000032	Abnormality of male external genitalia	9031	BAZ1B	ORPHA:904
HP:0000032	Abnormality of male external genitalia	2006	ELN	ORPHA:904
HP:0000032	Abnormality of male external genitalia	5590	PRKCZ	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	2563	GABRD	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	23013	SPEN	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	8510	MMP23B	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	7798	LUZP1	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	6497	SKI	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	10630	PDPN	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	10277	UBE4B	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	8514	KCNAB2	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	473	RERE	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	63976	PRDM16	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	54897	CASZ1	ORPHA:1606
HP:0000032	Abnormality of male external genitalia	286	ANK1	ORPHA:251066
HP:0000032	Abnormality of male external genitalia	6091	ROBO1	ORPHA:95496
HP:0000032	Abnormality of male external genitalia	23432	GPR161	ORPHA:95496
HP:0000032	Abnormality of male external genitalia	6299	SALL1	ORPHA:857
HP:0000032	Abnormality of male external genitalia	51339	DACT1	ORPHA:857
HP:0000032	Abnormality of male external genitalia	2239	GPC4	ORPHA:373
HP:0000032	Abnormality of male external genitalia	2719	GPC3	ORPHA:373
HP:0000032	Abnormality of male external genitalia	1968	EIF2S3	ORPHA:85282
HP:0000032	Abnormality of male external genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0000032	Abnormality of male external genitalia	3239	HOXD13	ORPHA:887
HP:0000032	Abnormality of male external genitalia	117581	TWIST2	ORPHA:920
HP:0000032	Abnormality of male external genitalia	64324	NSD1	ORPHA:3447
HP:0000032	Abnormality of male external genitalia	8726	EED	ORPHA:3447
HP:0000032	Abnormality of male external genitalia	23512	SUZ12	ORPHA:3447
HP:0000032	Abnormality of male external genitalia	2146	EZH2	ORPHA:3447
HP:0000032	Abnormality of male external genitalia	9897	WASHC5	ORPHA:7
HP:0000032	Abnormality of male external genitalia	28952	CCDC22	ORPHA:7
HP:0000032	Abnormality of male external genitalia	9915	ARNT2	ORPHA:3157
HP:0000032	Abnormality of male external genitalia	2690	GHR	ORPHA:633
HP:0000032	Abnormality of male external genitalia	10606	PAICS	OMIM:619859
HP:0000032	Abnormality of male external genitalia	50945	TBX22	ORPHA:921
HP:0000032	Abnormality of male external genitalia	7486	WRN	ORPHA:902
HP:0000032	Abnormality of male external genitalia	392255	GDF6	OMIM:613094
HP:0000032	Abnormality of male external genitalia	79577	CDC73	ORPHA:143
HP:0000032	Abnormality of male external genitalia	79577	CDC73	ORPHA:99880
HP:0000032	Abnormality of male external genitalia	284058	KANSL1	ORPHA:363965
HP:0000032	Abnormality of male external genitalia	284058	KANSL1	ORPHA:363958
HP:0000032	Abnormality of male external genitalia	2130	EWSR1	ORPHA:83469
HP:0000032	Abnormality of male external genitalia	5566	PRKACA	ORPHA:189439
HP:0000032	Abnormality of male external genitalia	8622	PDE8B	ORPHA:189439
HP:0000032	Abnormality of male external genitalia	5573	PRKAR1A	ORPHA:189439
HP:0000032	Abnormality of male external genitalia	5573	PRKAR1A	ORPHA:1359
HP:0000032	Abnormality of male external genitalia	50940	PDE11A	ORPHA:189439
HP:0000032	Abnormality of male external genitalia	50940	PDE11A	ORPHA:1359
HP:0000032	Abnormality of male external genitalia	412	STS	OMIM:308100
HP:0000032	Abnormality of male external genitalia	367	AR	ORPHA:99429
HP:0000032	Abnormality of male external genitalia	1027	CDKN1B	ORPHA:276152
HP:0000032	Abnormality of male external genitalia	7157	TP53	ORPHA:524
HP:0000032	Abnormality of male external genitalia	1029	CDKN2A	ORPHA:524
HP:0000032	Abnormality of male external genitalia	4193	MDM2	ORPHA:524
HP:0000032	Abnormality of male external genitalia	11200	CHEK2	ORPHA:524
HP:0000032	Abnormality of male external genitalia	6611	SMS	ORPHA:3063
HP:0000032	Abnormality of male external genitalia	2778	GNAS	ORPHA:562
HP:0000032	Abnormality of male external genitalia	2488	FSHB	ORPHA:52901
HP:0000032	Abnormality of male external genitalia	10568	SLC34A2	ORPHA:60025
HP:0000032	Abnormality of male external genitalia	3972	LHB	OMIM:228300
HP:0000032	Abnormality of male external genitalia	51574	LARP7	OMIM:615071
HP:0000032	Abnormality of male external genitalia	6904	TBCD	OMIM:617193
HP:0000032	Abnormality of male external genitalia	64132	XYLT2	OMIM:605822
HP:0000032	Abnormality of male external genitalia	745	MYRF	OMIM:618280
HP:0000032	Abnormality of male external genitalia	4784	NFIX	ORPHA:447980
HP:0000032	Abnormality of male external genitalia	104	ADARB1	OMIM:618862
HP:0000032	Abnormality of male external genitalia	90121	TSR2	OMIM:300946
HP:0000032	Abnormality of male external genitalia	4781	NFIB	OMIM:618286
HP:0000032	Abnormality of male external genitalia	51111	KMT5B	OMIM:617788
HP:0000032	Abnormality of male external genitalia	3481	IGF2	OMIM:616489
HP:0000032	Abnormality of male external genitalia	83479	DDX59	OMIM:174300
HP:0000032	Abnormality of male external genitalia	6736	SRY	ORPHA:1772
HP:0000032	Abnormality of male external genitalia	84282	RNF135	ORPHA:137634
HP:0000032	Abnormality of male external genitalia	64093	SMOC1	OMIM:206920
HP:0000032	Abnormality of male external genitalia	25942	SIN3A	OMIM:613406
HP:0000032	Abnormality of male external genitalia	3640	INSL3	OMIM:219050
HP:0000032	Abnormality of male external genitalia	3284	HSD3B2	OMIM:201810
HP:0000032	Abnormality of male external genitalia	1528	CYB5A	OMIM:250790
HP:0000032	Abnormality of male external genitalia	1583	CYP11A1	ORPHA:289548
HP:0000032	Abnormality of male external genitalia	1583	CYP11A1	ORPHA:168558
HP:0000032	Abnormality of male external genitalia	56983	POGLUT1	ORPHA:79145
HP:0000032	Abnormality of male external genitalia	3852	KRT5	ORPHA:79145
HP:0000032	Abnormality of male external genitalia	23509	POFUT1	ORPHA:79145
HP:0000032	Abnormality of male external genitalia	55851	PSENEN	ORPHA:79145
HP:0000032	Abnormality of male external genitalia	114034	TOE1	ORPHA:284339
HP:0000032	Abnormality of male external genitalia	9562	MINPP1	ORPHA:284339
HP:0000032	Abnormality of male external genitalia	7840	ALMS1	ORPHA:64
HP:0000032	Abnormality of male external genitalia	57647	DHX37	OMIM:273250
HP:0000032	Abnormality of male external genitalia	57647	DHX37	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	6662	SOX9	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	6845	VAMP7	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	51741	WWOX	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	4214	MAP3K1	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	2516	NR5A1	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	7490	WT1	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	58524	DMRT3	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	23414	ZFPM2	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	190	NR0B1	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	2626	GATA4	ORPHA:251510
HP:0000032	Abnormality of male external genitalia	207	AKT1	OMIM:615109
HP:0000032	Abnormality of male external genitalia	5728	PTEN	OMIM:158350
HP:0000032	Abnormality of male external genitalia	10847	SRCAP	ORPHA:2044
HP:0000032	Abnormality of male external genitalia	10847	SRCAP	OMIM:136140
HP:0000032	Abnormality of male external genitalia	56246	MRAP	ORPHA:361
HP:0000032	Abnormality of male external genitalia	6770	STAR	ORPHA:361
HP:0000032	Abnormality of male external genitalia	4158	MC2R	ORPHA:361
HP:0000032	Abnormality of male external genitalia	23530	NNT	ORPHA:361
HP:0000032	Abnormality of male external genitalia	10587	TXNRD2	ORPHA:361
HP:0000032	Abnormality of male external genitalia	2188	FANCF	OMIM:603467
HP:0000032	Abnormality of male external genitalia	54809	SAMD9	OMIM:617053
HP:0000032	Abnormality of male external genitalia	57187	THOC2	OMIM:300957
HP:0000032	Abnormality of male external genitalia	6870	TACR3	OMIM:614840
HP:0000032	Abnormality of male external genitalia	25914	RTTN	ORPHA:468631
HP:0000032	Abnormality of male external genitalia	26123	TCTN3	ORPHA:2753
HP:0000032	Abnormality of male external genitalia	161742	SPRED1	ORPHA:137605
HP:0000032	Abnormality of male external genitalia	5792	PTPRF	OMIM:616001
HP:0000032	Abnormality of male external genitalia	402381	SOHLH1	OMIM:618115
HP:0000032	Abnormality of male external genitalia	125150	ZSWIM7	OMIM:619831
HP:0000032	Abnormality of male external genitalia	9817	KEAP1	ORPHA:276399
HP:0000032	Abnormality of male external genitalia	23405	DICER1	ORPHA:276399
HP:0000032	Abnormality of male external genitalia	80169	CTC1	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	26277	TINF2	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	55651	NHP2	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	79650	USB1	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	55135	WRAP53	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	51750	RTEL1	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	4869	NPM1	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	7012	TERC	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	55505	NOP10	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	5073	PARN	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	7015	TERT	ORPHA:1775
HP:0000032	Abnormality of male external genitalia	627	BDNF	ORPHA:893
HP:0000032	Abnormality of male external genitalia	79827	CLMP	ORPHA:2301
HP:0000032	Abnormality of male external genitalia	2767	GNA11	ORPHA:1556
HP:0000032	Abnormality of male external genitalia	151188	ARL6IP6	ORPHA:1556
HP:0000032	Abnormality of male external genitalia	4210	MEFV	ORPHA:342
HP:0000032	Abnormality of male external genitalia	4210	MEFV	OMIM:249100
HP:0000032	Abnormality of male external genitalia	4210	MEFV	ORPHA:117
HP:0000032	Abnormality of male external genitalia	7132	TNFRSF1A	ORPHA:32960
HP:0000032	Abnormality of male external genitalia	149233	IL23R	ORPHA:117
HP:0000032	Abnormality of male external genitalia	6775	STAT4	ORPHA:117
HP:0000032	Abnormality of male external genitalia	3586	IL10	ORPHA:117
HP:0000032	Abnormality of male external genitalia	1230	CCR1	ORPHA:117
HP:0000032	Abnormality of male external genitalia	355	FAS	ORPHA:117
HP:0000032	Abnormality of male external genitalia	3592	IL12A	ORPHA:117
HP:0000032	Abnormality of male external genitalia	101928376	IL12A-AS1	ORPHA:117
HP:0000032	Abnormality of male external genitalia	3106	HLA-B	ORPHA:117
HP:0000032	Abnormality of male external genitalia	7099	TLR4	ORPHA:117
HP:0000032	Abnormality of male external genitalia	3459	IFNGR1	ORPHA:117
HP:0000032	Abnormality of male external genitalia	720	C4A	ORPHA:117
HP:0000032	Abnormality of male external genitalia	337867	UBAC2	ORPHA:117
HP:0000032	Abnormality of male external genitalia	51752	ERAP1	ORPHA:117
HP:0000032	Abnormality of male external genitalia	8302	KLRC4	ORPHA:117
HP:0000032	Abnormality of male external genitalia	11285	B4GALT7	ORPHA:75496
HP:0000032	Abnormality of male external genitalia	3339	HSPG2	ORPHA:800
HP:0000032	Abnormality of male external genitalia	2313	FLI1	ORPHA:370348
HP:0000033	Ambiguous genitalia, male	1718	DHCR24	OMIM:602398
HP:0000033	Ambiguous genitalia, male	1583	CYP11A1	ORPHA:289548
HP:0000033	Ambiguous genitalia, male	1583	CYP11A1	ORPHA:168558
HP:0000033	Ambiguous genitalia, male	7259	TSPYL1	OMIM:608800
HP:0000033	Ambiguous genitalia, male	6716	SRD5A2	OMIM:264600
HP:0000033	Ambiguous genitalia, male	6716	SRD5A2	ORPHA:753
HP:0000033	Ambiguous genitalia, male	6913	TBX15	OMIM:260660
HP:0000033	Ambiguous genitalia, male	54903	MKS1	OMIM:249000
HP:0000033	Ambiguous genitalia, male	1528	CYB5A	ORPHA:90796
HP:0000033	Ambiguous genitalia, male	1586	CYP17A1	ORPHA:90796
HP:0000033	Ambiguous genitalia, male	1586	CYP17A1	ORPHA:90793
HP:0000033	Ambiguous genitalia, male	6736	SRY	ORPHA:1772
HP:0000033	Ambiguous genitalia, male	7490	WT1	OMIM:194080
HP:0000033	Ambiguous genitalia, male	7490	WT1	ORPHA:347
HP:0000033	Ambiguous genitalia, male	3284	HSD3B2	ORPHA:90791
HP:0000033	Ambiguous genitalia, male	6309	SC5D	OMIM:607330
HP:0000034	Hydrocele testis	54345	SOX18	OMIM:137940
HP:0000034	Hydrocele testis	54345	SOX18	ORPHA:69735
HP:0000034	Hydrocele testis	54345	SOX18	OMIM:607823
HP:0000034	Hydrocele testis	1802	DPH2	OMIM:620062
HP:0000034	Hydrocele testis	5290	PIK3CA	ORPHA:276280
HP:0000034	Hydrocele testis	5290	PIK3CA	OMIM:615108
HP:0000034	Hydrocele testis	5728	PTEN	OMIM:605309
HP:0000034	Hydrocele testis	5728	PTEN	OMIM:158350
HP:0000034	Hydrocele testis	54914	FOCAD	OMIM:619991
HP:0000034	Hydrocele testis	9780	PIEZO1	OMIM:616843
HP:0000034	Hydrocele testis	8085	KMT2D	OMIM:620186
HP:0000034	Hydrocele testis	64324	NSD1	ORPHA:821
HP:0000034	Hydrocele testis	29072	SETD2	ORPHA:821
HP:0000034	Hydrocele testis	10297	APC2	ORPHA:821
HP:0000034	Hydrocele testis	9839	ZEB2	ORPHA:261537
HP:0000034	Hydrocele testis	9839	ZEB2	ORPHA:261552
HP:0000034	Hydrocele testis	23556	PIGN	ORPHA:280633
HP:0000034	Hydrocele testis	23556	PIGN	OMIM:614080
HP:0000034	Hydrocele testis	7750	ZMYM2	OMIM:619522
HP:0000034	Hydrocele testis	2324	FLT4	OMIM:153100
HP:0000034	Hydrocele testis	2324	FLT4	ORPHA:79452
HP:0000034	Hydrocele testis	285	ANGPT2	OMIM:619369
HP:0000034	Hydrocele testis	9508	ADAMTS3	OMIM:618154
HP:0000034	Hydrocele testis	9739	SETD1A	OMIM:618832
HP:0000034	Hydrocele testis	2033	EP300	ORPHA:353284
HP:0000034	Hydrocele testis	7841	MOGS	ORPHA:79330
HP:0000034	Hydrocele testis	57165	GJC2	ORPHA:79452
HP:0000034	Hydrocele testis	2122	MECOM	OMIM:616738
HP:0000034	Hydrocele testis	80267	EDEM3	OMIM:619493
HP:0000034	Hydrocele testis	8260	NAA10	OMIM:300855
HP:0000034	Hydrocele testis	1387	CREBBP	ORPHA:353277
HP:0000034	Hydrocele testis	9487	PIGL	OMIM:280000
HP:0000034	Hydrocele testis	2146	EZH2	OMIM:277590
HP:0000034	Hydrocele testis	8799	PEX11B	OMIM:614920
HP:0000034	Hydrocele testis	55901	THSD1	OMIM:620244
HP:0000034	Hydrocele testis	6899	TBX1	OMIM:188400
HP:0000034	Hydrocele testis	1468	SLC25A10	OMIM:618972
HP:0000034	Hydrocele testis	23384	SPECC1L	OMIM:145420
HP:0000034	Hydrocele testis	207	AKT1	OMIM:615109
HP:0000034	Hydrocele testis	55210	ATAD3A	OMIM:618810
HP:0000034	Hydrocele testis	29969	MDFIC	OMIM:620014
HP:0000034	Hydrocele testis	7424	VEGFC	OMIM:615907
HP:0000035	Abnormal testis morphology	23394	ADNP	ORPHA:404448
HP:0000035	Abnormal testis morphology	23394	ADNP	OMIM:615873
HP:0000035	Abnormal testis morphology	8216	LZTR1	OMIM:616564
HP:0000035	Abnormal testis morphology	8216	LZTR1	OMIM:605275
HP:0000035	Abnormal testis morphology	8216	LZTR1	ORPHA:648
HP:0000035	Abnormal testis morphology	23135	KDM6B	OMIM:618505
HP:0000035	Abnormal testis morphology	1024	CDK8	OMIM:618748
HP:0000035	Abnormal testis morphology	91801	ALKBH8	OMIM:618504
HP:0000035	Abnormal testis morphology	1788	DNMT3A	ORPHA:404443
HP:0000035	Abnormal testis morphology	55209	SETD5	ORPHA:404440
HP:0000035	Abnormal testis morphology	197131	UBR1	OMIM:243800
HP:0000035	Abnormal testis morphology	9578	CDC42BPB	OMIM:619841
HP:0000035	Abnormal testis morphology	80816	ASXL3	OMIM:615485
HP:0000035	Abnormal testis morphology	1855	DVL1	OMIM:616331
HP:0000035	Abnormal testis morphology	1855	DVL1	OMIM:180700
HP:0000035	Abnormal testis morphology	1855	DVL1	ORPHA:3107
HP:0000035	Abnormal testis morphology	1841	DTYMK	OMIM:619847
HP:0000035	Abnormal testis morphology	55690	PACS1	OMIM:615009
HP:0000035	Abnormal testis morphology	55690	PACS1	ORPHA:329224
HP:0000035	Abnormal testis morphology	55904	KMT2E	OMIM:618512
HP:0000035	Abnormal testis morphology	2132	EXT2	ORPHA:466926
HP:0000035	Abnormal testis morphology	2132	EXT2	OMIM:616682
HP:0000035	Abnormal testis morphology	10908	PNPLA6	OMIM:275400
HP:0000035	Abnormal testis morphology	10908	PNPLA6	ORPHA:2377
HP:0000035	Abnormal testis morphology	1161	ERCC8	OMIM:216400
HP:0000035	Abnormal testis morphology	1161	ERCC8	ORPHA:90321
HP:0000035	Abnormal testis morphology	1161	ERCC8	ORPHA:90322
HP:0000035	Abnormal testis morphology	2192	FBLN1	ORPHA:404451
HP:0000035	Abnormal testis morphology	284403	WDR62	OMIM:604317
HP:0000035	Abnormal testis morphology	3190	HNRNPK	OMIM:616580
HP:0000035	Abnormal testis morphology	3190	HNRNPK	ORPHA:453504
HP:0000035	Abnormal testis morphology	3190	HNRNPK	ORPHA:352665
HP:0000035	Abnormal testis morphology	54453	RIN2	OMIM:613075
HP:0000035	Abnormal testis morphology	54453	RIN2	ORPHA:217335
HP:0000035	Abnormal testis morphology	113189	CHST14	ORPHA:2953
HP:0000035	Abnormal testis morphology	113189	CHST14	OMIM:601776
HP:0000035	Abnormal testis morphology	29940	DSE	ORPHA:2953
HP:0000035	Abnormal testis morphology	55681	SCYL2	OMIM:618766
HP:0000035	Abnormal testis morphology	10484	SEC23A	OMIM:607812
HP:0000035	Abnormal testis morphology	23347	SMCHD1	OMIM:603457
HP:0000035	Abnormal testis morphology	23347	SMCHD1	ORPHA:2250
HP:0000035	Abnormal testis morphology	23327	NEDD4L	OMIM:617201
HP:0000035	Abnormal testis morphology	8036	SHOC2	ORPHA:2701
HP:0000035	Abnormal testis morphology	8036	SHOC2	OMIM:607721
HP:0000035	Abnormal testis morphology	5500	PPP1CB	ORPHA:2701
HP:0000035	Abnormal testis morphology	5500	PPP1CB	OMIM:617506
HP:0000035	Abnormal testis morphology	9860	LRIG2	ORPHA:2704
HP:0000035	Abnormal testis morphology	60495	HPSE2	ORPHA:2704
HP:0000035	Abnormal testis morphology	60495	HPSE2	OMIM:236730
HP:0000035	Abnormal testis morphology	92482	BBIP1	ORPHA:110
HP:0000035	Abnormal testis morphology	80184	CEP290	ORPHA:110
HP:0000035	Abnormal testis morphology	80184	CEP290	ORPHA:564
HP:0000035	Abnormal testis morphology	11020	IFT27	ORPHA:110
HP:0000035	Abnormal testis morphology	4867	NPHP1	ORPHA:110
HP:0000035	Abnormal testis morphology	51057	WDPCP	ORPHA:110
HP:0000035	Abnormal testis morphology	51057	WDPCP	ORPHA:1338
HP:0000035	Abnormal testis morphology	27241	BBS9	ORPHA:110
HP:0000035	Abnormal testis morphology	84984	CEP19	ORPHA:110
HP:0000035	Abnormal testis morphology	22954	TRIM32	ORPHA:110
HP:0000035	Abnormal testis morphology	54903	MKS1	ORPHA:110
HP:0000035	Abnormal testis morphology	54903	MKS1	ORPHA:564
HP:0000035	Abnormal testis morphology	54903	MKS1	OMIM:249000
HP:0000035	Abnormal testis morphology	79738	BBS10	ORPHA:110
HP:0000035	Abnormal testis morphology	585	BBS4	ORPHA:110
HP:0000035	Abnormal testis morphology	585	BBS4	OMIM:615982
HP:0000035	Abnormal testis morphology	8195	MKKS	ORPHA:110
HP:0000035	Abnormal testis morphology	8195	MKKS	OMIM:236700
HP:0000035	Abnormal testis morphology	8195	MKKS	ORPHA:2473
HP:0000035	Abnormal testis morphology	54585	LZTFL1	ORPHA:110
HP:0000035	Abnormal testis morphology	55212	BBS7	ORPHA:110
HP:0000035	Abnormal testis morphology	166379	BBS12	ORPHA:110
HP:0000035	Abnormal testis morphology	10806	SDCCAG8	ORPHA:110
HP:0000035	Abnormal testis morphology	129880	BBS5	ORPHA:110
HP:0000035	Abnormal testis morphology	80173	IFT74	ORPHA:110
HP:0000035	Abnormal testis morphology	23512	SUZ12	OMIM:618786
HP:0000035	Abnormal testis morphology	23512	SUZ12	ORPHA:3447
HP:0000035	Abnormal testis morphology	6905	TBCE	OMIM:241410
HP:0000035	Abnormal testis morphology	6905	TBCE	ORPHA:2323
HP:0000035	Abnormal testis morphology	51633	OTUD6B	OMIM:617452
HP:0000035	Abnormal testis morphology	51633	OTUD6B	ORPHA:505237
HP:0000035	Abnormal testis morphology	27125	AFF4	OMIM:616368
HP:0000035	Abnormal testis morphology	5590	PRKCZ	ORPHA:1606
HP:0000035	Abnormal testis morphology	2563	GABRD	ORPHA:1606
HP:0000035	Abnormal testis morphology	23013	SPEN	ORPHA:1606
HP:0000035	Abnormal testis morphology	8510	MMP23B	ORPHA:1606
HP:0000035	Abnormal testis morphology	7798	LUZP1	ORPHA:1606
HP:0000035	Abnormal testis morphology	6497	SKI	ORPHA:1606
HP:0000035	Abnormal testis morphology	6497	SKI	ORPHA:2462
HP:0000035	Abnormal testis morphology	6497	SKI	OMIM:182212
HP:0000035	Abnormal testis morphology	10630	PDPN	ORPHA:1606
HP:0000035	Abnormal testis morphology	10277	UBE4B	ORPHA:1606
HP:0000035	Abnormal testis morphology	8514	KCNAB2	ORPHA:1606
HP:0000035	Abnormal testis morphology	473	RERE	ORPHA:1606
HP:0000035	Abnormal testis morphology	473	RERE	ORPHA:494344
HP:0000035	Abnormal testis morphology	473	RERE	OMIM:616975
HP:0000035	Abnormal testis morphology	63976	PRDM16	ORPHA:1606
HP:0000035	Abnormal testis morphology	54897	CASZ1	ORPHA:1606
HP:0000035	Abnormal testis morphology	1859	DYRK1A	ORPHA:464311
HP:0000035	Abnormal testis morphology	1859	DYRK1A	ORPHA:268261
HP:0000035	Abnormal testis morphology	79718	TBL1XR1	OMIM:602342
HP:0000035	Abnormal testis morphology	79718	TBL1XR1	ORPHA:487825
HP:0000035	Abnormal testis morphology	641	BLM	OMIM:210900
HP:0000035	Abnormal testis morphology	9772	TMEM94	OMIM:618316
HP:0000035	Abnormal testis morphology	57688	ZSWIM6	OMIM:603671
HP:0000035	Abnormal testis morphology	57688	ZSWIM6	ORPHA:1827
HP:0000035	Abnormal testis morphology	63895	PIEZO2	ORPHA:376
HP:0000035	Abnormal testis morphology	63895	PIEZO2	OMIM:114300
HP:0000035	Abnormal testis morphology	63895	PIEZO2	OMIM:248700
HP:0000035	Abnormal testis morphology	5727	PTCH1	ORPHA:377
HP:0000035	Abnormal testis morphology	8643	PTCH2	ORPHA:377
HP:0000035	Abnormal testis morphology	51684	SUFU	ORPHA:377
HP:0000035	Abnormal testis morphology	2239	GPC4	ORPHA:373
HP:0000035	Abnormal testis morphology	2239	GPC4	OMIM:312870
HP:0000035	Abnormal testis morphology	2719	GPC3	ORPHA:373
HP:0000035	Abnormal testis morphology	2719	GPC3	OMIM:312870
HP:0000035	Abnormal testis morphology	23483	TGDS	OMIM:616145
HP:0000035	Abnormal testis morphology	25836	NIPBL	OMIM:122470
HP:0000035	Abnormal testis morphology	25836	NIPBL	ORPHA:199
HP:0000035	Abnormal testis morphology	5881	RAC3	OMIM:618577
HP:0000035	Abnormal testis morphology	5081	PAX7	OMIM:618578
HP:0000035	Abnormal testis morphology	389827	MYMK	OMIM:254940
HP:0000035	Abnormal testis morphology	2263	FGFR2	ORPHA:794
HP:0000035	Abnormal testis morphology	2263	FGFR2	ORPHA:2363
HP:0000035	Abnormal testis morphology	2263	FGFR2	OMIM:101200
HP:0000035	Abnormal testis morphology	2263	FGFR2	ORPHA:1555
HP:0000035	Abnormal testis morphology	2261	FGFR3	ORPHA:794
HP:0000035	Abnormal testis morphology	2261	FGFR3	ORPHA:2363
HP:0000035	Abnormal testis morphology	9361	LONP1	OMIM:600373
HP:0000035	Abnormal testis morphology	56896	DPYSL5	OMIM:619435
HP:0000035	Abnormal testis morphology	10765	KDM5B	OMIM:618109
HP:0000035	Abnormal testis morphology	1798	DPAGT1	OMIM:608093
HP:0000035	Abnormal testis morphology	7681	MKRN3	OMIM:176270
HP:0000035	Abnormal testis morphology	3653	IPW	OMIM:176270
HP:0000035	Abnormal testis morphology	791114	PWRN1	OMIM:176270
HP:0000035	Abnormal testis morphology	100033413	SNORD116-1	OMIM:176270
HP:0000035	Abnormal testis morphology	8924	HERC2	OMIM:176270
HP:0000035	Abnormal testis morphology	145624	PWAR1	OMIM:176270
HP:0000035	Abnormal testis morphology	23742	NPAP1	OMIM:176270
HP:0000035	Abnormal testis morphology	338433	SNORD115-1	OMIM:176270
HP:0000035	Abnormal testis morphology	2972	BRF1	ORPHA:444072
HP:0000035	Abnormal testis morphology	2972	BRF1	OMIM:616202
HP:0000035	Abnormal testis morphology	6299	SALL1	OMIM:107480
HP:0000035	Abnormal testis morphology	6299	SALL1	ORPHA:857
HP:0000035	Abnormal testis morphology	4952	OCRL	ORPHA:534
HP:0000035	Abnormal testis morphology	4952	OCRL	OMIM:309000
HP:0000035	Abnormal testis morphology	29954	POMT2	OMIM:236670
HP:0000035	Abnormal testis morphology	29954	POMT2	ORPHA:370968
HP:0000035	Abnormal testis morphology	29954	POMT2	ORPHA:899
HP:0000035	Abnormal testis morphology	29954	POMT2	OMIM:613156
HP:0000035	Abnormal testis morphology	9215	LARGE1	OMIM:236670
HP:0000035	Abnormal testis morphology	9215	LARGE1	ORPHA:370968
HP:0000035	Abnormal testis morphology	9215	LARGE1	ORPHA:899
HP:0000035	Abnormal testis morphology	79147	FKRP	OMIM:236670
HP:0000035	Abnormal testis morphology	79147	FKRP	ORPHA:370968
HP:0000035	Abnormal testis morphology	79147	FKRP	ORPHA:899
HP:0000035	Abnormal testis morphology	10585	POMT1	OMIM:236670
HP:0000035	Abnormal testis morphology	10585	POMT1	ORPHA:370968
HP:0000035	Abnormal testis morphology	10585	POMT1	ORPHA:899
HP:0000035	Abnormal testis morphology	2218	FKTN	OMIM:236670
HP:0000035	Abnormal testis morphology	2218	FKTN	ORPHA:899
HP:0000035	Abnormal testis morphology	1281	COL3A1	OMIM:130050
HP:0000035	Abnormal testis morphology	1281	COL3A1	ORPHA:286
HP:0000035	Abnormal testis morphology	29925	GMPPB	ORPHA:370968
HP:0000035	Abnormal testis morphology	3039	HBA1	ORPHA:98791
HP:0000035	Abnormal testis morphology	3040	HBA2	ORPHA:98791
HP:0000035	Abnormal testis morphology	84340	GFM2	ORPHA:565624
HP:0000035	Abnormal testis morphology	22930	RAB3GAP1	OMIM:600118
HP:0000035	Abnormal testis morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000035	Abnormal testis morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000035	Abnormal testis morphology	4998	ORC1	OMIM:224690
HP:0000035	Abnormal testis morphology	4998	ORC1	ORPHA:2554
HP:0000035	Abnormal testis morphology	6601	SMARCC2	OMIM:618362
HP:0000035	Abnormal testis morphology	6601	SMARCC2	ORPHA:1465
HP:0000035	Abnormal testis morphology	1312	COMT	ORPHA:567
HP:0000035	Abnormal testis morphology	221037	JMJD1C	ORPHA:567
HP:0000035	Abnormal testis morphology	2812	GP1BB	ORPHA:567
HP:0000035	Abnormal testis morphology	6239	RREB1	ORPHA:567
HP:0000035	Abnormal testis morphology	7290	HIRA	ORPHA:567
HP:0000035	Abnormal testis morphology	9632	SEC24C	ORPHA:567
HP:0000035	Abnormal testis morphology	7353	UFD1	ORPHA:567
HP:0000035	Abnormal testis morphology	421	ARVCF	ORPHA:567
HP:0000035	Abnormal testis morphology	54880	BCOR	ORPHA:568
HP:0000035	Abnormal testis morphology	54880	BCOR	OMIM:300166
HP:0000035	Abnormal testis morphology	54880	BCOR	OMIM:309800
HP:0000035	Abnormal testis morphology	84314	TMEM107	ORPHA:564
HP:0000035	Abnormal testis morphology	79867	TCTN2	ORPHA:564
HP:0000035	Abnormal testis morphology	80776	B9D2	ORPHA:564
HP:0000035	Abnormal testis morphology	79600	TCTN1	ORPHA:564
HP:0000035	Abnormal testis morphology	57096	RPGRIP1	ORPHA:564
HP:0000035	Abnormal testis morphology	79848	CSPP1	ORPHA:564
HP:0000035	Abnormal testis morphology	57545	CC2D2A	ORPHA:564
HP:0000035	Abnormal testis morphology	79583	TMEM231	ORPHA:564
HP:0000035	Abnormal testis morphology	91147	TMEM67	ORPHA:564
HP:0000035	Abnormal testis morphology	79770	TXNDC15	ORPHA:564
HP:0000035	Abnormal testis morphology	27077	B9D1	ORPHA:564
HP:0000035	Abnormal testis morphology	23322	RPGRIP1L	ORPHA:564
HP:0000035	Abnormal testis morphology	65062	TMEM237	ORPHA:564
HP:0000035	Abnormal testis morphology	7317	UBA1	OMIM:301830
HP:0000035	Abnormal testis morphology	7317	UBA1	ORPHA:1145
HP:0000035	Abnormal testis morphology	3293	HSD17B3	ORPHA:752
HP:0000035	Abnormal testis morphology	4927	NUP88	ORPHA:994
HP:0000035	Abnormal testis morphology	4927	NUP88	OMIM:618393
HP:0000035	Abnormal testis morphology	7846	TUBA1A	ORPHA:994
HP:0000035	Abnormal testis morphology	4654	MYOD1	ORPHA:994
HP:0000035	Abnormal testis morphology	4593	MUSK	ORPHA:994
HP:0000035	Abnormal testis morphology	4593	MUSK	OMIM:208150
HP:0000035	Abnormal testis morphology	5913	RAPSN	ORPHA:994
HP:0000035	Abnormal testis morphology	5913	RAPSN	OMIM:618388
HP:0000035	Abnormal testis morphology	6572	SLC18A3	ORPHA:994
HP:0000035	Abnormal testis morphology	285489	DOK7	ORPHA:994
HP:0000035	Abnormal testis morphology	134218	DNAJC21	OMIM:617052
HP:0000035	Abnormal testis morphology	57061	HYMAI	ORPHA:96191
HP:0000035	Abnormal testis morphology	5325	PLAGL1	ORPHA:96191
HP:0000035	Abnormal testis morphology	2892	GRIA3	ORPHA:364028
HP:0000035	Abnormal testis morphology	94005	PIGS	OMIM:618143
HP:0000035	Abnormal testis morphology	80036	TRPM3	OMIM:620224
HP:0000035	Abnormal testis morphology	5781	PTPN11	ORPHA:500
HP:0000035	Abnormal testis morphology	5781	PTPN11	ORPHA:648
HP:0000035	Abnormal testis morphology	5781	PTPN11	OMIM:151100
HP:0000035	Abnormal testis morphology	5781	PTPN11	OMIM:163950
HP:0000035	Abnormal testis morphology	673	BRAF	ORPHA:500
HP:0000035	Abnormal testis morphology	673	BRAF	ORPHA:1340
HP:0000035	Abnormal testis morphology	673	BRAF	OMIM:163950
HP:0000035	Abnormal testis morphology	5894	RAF1	ORPHA:500
HP:0000035	Abnormal testis morphology	5894	RAF1	ORPHA:648
HP:0000035	Abnormal testis morphology	5894	RAF1	OMIM:611553
HP:0000035	Abnormal testis morphology	2317	FLNB	ORPHA:503
HP:0000035	Abnormal testis morphology	2317	FLNB	ORPHA:1263
HP:0000035	Abnormal testis morphology	2317	FLNB	OMIM:108720
HP:0000035	Abnormal testis morphology	2317	FLNB	OMIM:150250
HP:0000035	Abnormal testis morphology	10283	CWC27	ORPHA:166035
HP:0000035	Abnormal testis morphology	388015	RTL1	ORPHA:96184
HP:0000035	Abnormal testis morphology	388015	RTL1	ORPHA:96334
HP:0000035	Abnormal testis morphology	8788	DLK1	ORPHA:96184
HP:0000035	Abnormal testis morphology	8788	DLK1	ORPHA:96334
HP:0000035	Abnormal testis morphology	55384	MEG3	ORPHA:96184
HP:0000035	Abnormal testis morphology	55384	MEG3	ORPHA:96334
HP:0000035	Abnormal testis morphology	2887	GRB10	ORPHA:96182
HP:0000035	Abnormal testis morphology	10682	EBP	OMIM:300960
HP:0000035	Abnormal testis morphology	10682	EBP	ORPHA:401973
HP:0000035	Abnormal testis morphology	8567	MADD	OMIM:619004
HP:0000035	Abnormal testis morphology	8567	MADD	OMIM:619005
HP:0000035	Abnormal testis morphology	374879	ZNF699	OMIM:619488
HP:0000035	Abnormal testis morphology	8318	CDC45	OMIM:617063
HP:0000035	Abnormal testis morphology	8318	CDC45	ORPHA:2554
HP:0000035	Abnormal testis morphology	28952	CCDC22	OMIM:300963
HP:0000035	Abnormal testis morphology	23112	TNRC6B	OMIM:619243
HP:0000035	Abnormal testis morphology	91875	TTC5	OMIM:619244
HP:0000035	Abnormal testis morphology	7169	TPM2	OMIM:108120
HP:0000035	Abnormal testis morphology	201595	STT3B	ORPHA:370924
HP:0000035	Abnormal testis morphology	201595	STT3B	OMIM:615597
HP:0000035	Abnormal testis morphology	1968	EIF2S3	ORPHA:85282
HP:0000035	Abnormal testis morphology	5557	PRIM1	OMIM:620005
HP:0000035	Abnormal testis morphology	7474	WNT5A	OMIM:180700
HP:0000035	Abnormal testis morphology	7474	WNT5A	ORPHA:3107
HP:0000035	Abnormal testis morphology	114034	TOE1	ORPHA:284339
HP:0000035	Abnormal testis morphology	114034	TOE1	OMIM:614969
HP:0000035	Abnormal testis morphology	9562	MINPP1	ORPHA:284339
HP:0000035	Abnormal testis morphology	55294	FBXW7	OMIM:620012
HP:0000035	Abnormal testis morphology	6657	SOX2	ORPHA:3157
HP:0000035	Abnormal testis morphology	6657	SOX2	OMIM:206900
HP:0000035	Abnormal testis morphology	6657	SOX2	ORPHA:77298
HP:0000035	Abnormal testis morphology	9915	ARNT2	ORPHA:3157
HP:0000035	Abnormal testis morphology	9915	ARNT2	OMIM:615926
HP:0000035	Abnormal testis morphology	6716	SRD5A2	ORPHA:753
HP:0000035	Abnormal testis morphology	6716	SRD5A2	OMIM:264600
HP:0000035	Abnormal testis morphology	7403	KDM6A	OMIM:147920
HP:0000035	Abnormal testis morphology	7403	KDM6A	ORPHA:2322
HP:0000035	Abnormal testis morphology	6095	RORA	OMIM:618060
HP:0000035	Abnormal testis morphology	23241	PACS2	OMIM:618067
HP:0000035	Abnormal testis morphology	7518	XRCC4	ORPHA:99812
HP:0000035	Abnormal testis morphology	7518	XRCC4	OMIM:616541
HP:0000035	Abnormal testis morphology	3981	LIG4	ORPHA:99812
HP:0000035	Abnormal testis morphology	3981	LIG4	OMIM:606593
HP:0000035	Abnormal testis morphology	3981	LIG4	ORPHA:235
HP:0000035	Abnormal testis morphology	80144	FRAS1	OMIM:219000
HP:0000035	Abnormal testis morphology	80144	FRAS1	ORPHA:2052
HP:0000035	Abnormal testis morphology	81839	VANGL1	ORPHA:3027
HP:0000035	Abnormal testis morphology	80199	FUZ	ORPHA:3027
HP:0000035	Abnormal testis morphology	5447	POR	ORPHA:95699
HP:0000035	Abnormal testis morphology	5447	POR	OMIM:201750
HP:0000035	Abnormal testis morphology	9401	RECQL4	OMIM:268400
HP:0000035	Abnormal testis morphology	9401	RECQL4	ORPHA:221016
HP:0000035	Abnormal testis morphology	55112	DYNC2I1	ORPHA:93271
HP:0000035	Abnormal testis morphology	57560	IFT80	ORPHA:93271
HP:0000035	Abnormal testis morphology	57539	WDR35	ORPHA:93271
HP:0000035	Abnormal testis morphology	79659	DYNC2H1	ORPHA:93271
HP:0000035	Abnormal testis morphology	89891	DYNC2I2	ORPHA:93271
HP:0000035	Abnormal testis morphology	89891	DYNC2I2	OMIM:615633
HP:0000035	Abnormal testis morphology	3664	IRF6	OMIM:119500
HP:0000035	Abnormal testis morphology	3664	IRF6	ORPHA:1300
HP:0000035	Abnormal testis morphology	4010	LMX1B	ORPHA:495818
HP:0000035	Abnormal testis morphology	6812	STXBP1	ORPHA:495818
HP:0000035	Abnormal testis morphology	1717	DHCR7	ORPHA:818
HP:0000035	Abnormal testis morphology	1717	DHCR7	OMIM:270400
HP:0000035	Abnormal testis morphology	10978	CLP1	OMIM:615803
HP:0000035	Abnormal testis morphology	150468	CKAP2L	ORPHA:3255
HP:0000035	Abnormal testis morphology	150468	CKAP2L	OMIM:272440
HP:0000035	Abnormal testis morphology	10225	CD96	OMIM:211750
HP:0000035	Abnormal testis morphology	10225	CD96	ORPHA:1308
HP:0000035	Abnormal testis morphology	9382	COG1	OMIM:611209
HP:0000035	Abnormal testis morphology	23522	KAT6B	OMIM:606170
HP:0000035	Abnormal testis morphology	23522	KAT6B	ORPHA:85201
HP:0000035	Abnormal testis morphology	23522	KAT6B	OMIM:603736
HP:0000035	Abnormal testis morphology	23522	KAT6B	ORPHA:3047
HP:0000035	Abnormal testis morphology	92579	G6PC3	OMIM:612541
HP:0000035	Abnormal testis morphology	84823	LMNB2	OMIM:619180
HP:0000035	Abnormal testis morphology	9896	FIG4	ORPHA:3472
HP:0000035	Abnormal testis morphology	9896	FIG4	OMIM:216340
HP:0000035	Abnormal testis morphology	55697	VAC14	ORPHA:3472
HP:0000035	Abnormal testis morphology	55148	UBR7	OMIM:619189
HP:0000035	Abnormal testis morphology	23545	ATP6V0A2	OMIM:278250
HP:0000035	Abnormal testis morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000035	Abnormal testis morphology	84300	UQCC2	OMIM:615824
HP:0000035	Abnormal testis morphology	83879	CDCA7	OMIM:616910
HP:0000035	Abnormal testis morphology	79053	ALG8	OMIM:608104
HP:0000035	Abnormal testis morphology	53834	FGFRL1	OMIM:194190
HP:0000035	Abnormal testis morphology	1487	CTBP1	OMIM:194190
HP:0000035	Abnormal testis morphology	1487	CTBP1	ORPHA:280
HP:0000035	Abnormal testis morphology	3954	LETM1	OMIM:194190
HP:0000035	Abnormal testis morphology	3954	LETM1	ORPHA:280
HP:0000035	Abnormal testis morphology	7468	NSD2	OMIM:194190
HP:0000035	Abnormal testis morphology	7468	NSD2	ORPHA:280
HP:0000035	Abnormal testis morphology	10815	CPLX1	OMIM:194190
HP:0000035	Abnormal testis morphology	10815	CPLX1	ORPHA:280
HP:0000035	Abnormal testis morphology	54496	PRMT7	ORPHA:464288
HP:0000035	Abnormal testis morphology	165	AEBP1	ORPHA:536532
HP:0000035	Abnormal testis morphology	165	AEBP1	OMIM:618000
HP:0000035	Abnormal testis morphology	9653	HS2ST1	OMIM:619194
HP:0000035	Abnormal testis morphology	64327	LMBR1	ORPHA:2378
HP:0000035	Abnormal testis morphology	23345	SYNE1	ORPHA:319332
HP:0000035	Abnormal testis morphology	23345	SYNE1	OMIM:618484
HP:0000035	Abnormal testis morphology	6091	ROBO1	ORPHA:95496
HP:0000035	Abnormal testis morphology	50937	CDON	ORPHA:95496
HP:0000035	Abnormal testis morphology	23432	GPR161	ORPHA:95496
HP:0000035	Abnormal testis morphology	11128	POLR3A	OMIM:264090
HP:0000035	Abnormal testis morphology	11128	POLR3A	ORPHA:3455
HP:0000035	Abnormal testis morphology	4094	MAF	ORPHA:1272
HP:0000035	Abnormal testis morphology	10436	EMG1	ORPHA:1270
HP:0000035	Abnormal testis morphology	81887	LAS1L	ORPHA:3459
HP:0000035	Abnormal testis morphology	81887	LAS1L	OMIM:309585
HP:0000035	Abnormal testis morphology	2255	FGF10	ORPHA:2363
HP:0000035	Abnormal testis morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0000035	Abnormal testis morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000035	Abnormal testis morphology	283120	H19	ORPHA:2128
HP:0000035	Abnormal testis morphology	2535	FZD2	OMIM:164745
HP:0000035	Abnormal testis morphology	2535	FZD2	ORPHA:3107
HP:0000035	Abnormal testis morphology	2535	FZD2	ORPHA:93328
HP:0000035	Abnormal testis morphology	2121	EVC	OMIM:225500
HP:0000035	Abnormal testis morphology	2121	EVC	ORPHA:289
HP:0000035	Abnormal testis morphology	132884	EVC2	OMIM:225500
HP:0000035	Abnormal testis morphology	132884	EVC2	ORPHA:289
HP:0000035	Abnormal testis morphology	6949	TCOF1	OMIM:154500
HP:0000035	Abnormal testis morphology	6949	TCOF1	ORPHA:861
HP:0000035	Abnormal testis morphology	147372	CCBE1	OMIM:235510
HP:0000035	Abnormal testis morphology	701	BUB1B	OMIM:257300
HP:0000035	Abnormal testis morphology	8726	EED	ORPHA:3447
HP:0000035	Abnormal testis morphology	8726	EED	OMIM:617561
HP:0000035	Abnormal testis morphology	6567	SLC16A2	ORPHA:59
HP:0000035	Abnormal testis morphology	55023	PHIP	ORPHA:589905
HP:0000035	Abnormal testis morphology	55023	PHIP	OMIM:617991
HP:0000035	Abnormal testis morphology	29123	ANKRD11	OMIM:148050
HP:0000035	Abnormal testis morphology	29123	ANKRD11	ORPHA:2332
HP:0000035	Abnormal testis morphology	29123	ANKRD11	ORPHA:261250
HP:0000035	Abnormal testis morphology	7319	UBE2A	ORPHA:163956
HP:0000035	Abnormal testis morphology	4089	SMAD4	ORPHA:2588
HP:0000035	Abnormal testis morphology	4089	SMAD4	OMIM:139210
HP:0000035	Abnormal testis morphology	10075	HUWE1	OMIM:309590
HP:0000035	Abnormal testis morphology	23028	KDM1A	OMIM:616728
HP:0000035	Abnormal testis morphology	23028	KDM1A	ORPHA:477993
HP:0000035	Abnormal testis morphology	55593	OTUD5	OMIM:301056
HP:0000035	Abnormal testis morphology	4854	NOTCH3	OMIM:130720
HP:0000035	Abnormal testis morphology	4854	NOTCH3	ORPHA:2789
HP:0000035	Abnormal testis morphology	4893	NRAS	OMIM:613224
HP:0000035	Abnormal testis morphology	4893	NRAS	ORPHA:648
HP:0000035	Abnormal testis morphology	998	CDC42	OMIM:616737
HP:0000035	Abnormal testis morphology	10982	MAPRE2	OMIM:616734
HP:0000035	Abnormal testis morphology	10982	MAPRE2	ORPHA:2505
HP:0000035	Abnormal testis morphology	2891	GRIA2	OMIM:618917
HP:0000035	Abnormal testis morphology	10560	SLC19A2	OMIM:249270
HP:0000035	Abnormal testis morphology	6597	SMARCA4	ORPHA:1465
HP:0000035	Abnormal testis morphology	6598	SMARCB1	ORPHA:1465
HP:0000035	Abnormal testis morphology	6659	SOX4	ORPHA:1465
HP:0000035	Abnormal testis morphology	8289	ARID1A	ORPHA:1465
HP:0000035	Abnormal testis morphology	8289	ARID1A	OMIM:614607
HP:0000035	Abnormal testis morphology	5977	DPF2	ORPHA:1465
HP:0000035	Abnormal testis morphology	6602	SMARCD1	ORPHA:1465
HP:0000035	Abnormal testis morphology	57492	ARID1B	ORPHA:1465
HP:0000035	Abnormal testis morphology	57492	ARID1B	OMIM:135900
HP:0000035	Abnormal testis morphology	196528	ARID2	ORPHA:1465
HP:0000035	Abnormal testis morphology	6605	SMARCE1	ORPHA:1465
HP:0000035	Abnormal testis morphology	6664	SOX11	ORPHA:1465
HP:0000035	Abnormal testis morphology	134701	RIPPLY2	ORPHA:2311
HP:0000035	Abnormal testis morphology	10683	DLL3	ORPHA:2311
HP:0000035	Abnormal testis morphology	3955	LFNG	ORPHA:2311
HP:0000035	Abnormal testis morphology	84667	HES7	ORPHA:2311
HP:0000035	Abnormal testis morphology	145873	MESP2	ORPHA:2311
HP:0000035	Abnormal testis morphology	259232	NALCN	OMIM:615419
HP:0000035	Abnormal testis morphology	259232	NALCN	ORPHA:2053
HP:0000035	Abnormal testis morphology	81620	CDT1	ORPHA:2554
HP:0000035	Abnormal testis morphology	81620	CDT1	OMIM:613804
HP:0000035	Abnormal testis morphology	5000	ORC4	ORPHA:2554
HP:0000035	Abnormal testis morphology	23594	ORC6	ORPHA:2554
HP:0000035	Abnormal testis morphology	23594	ORC6	OMIM:613803
HP:0000035	Abnormal testis morphology	990	CDC6	ORPHA:2554
HP:0000035	Abnormal testis morphology	990	CDC6	OMIM:613805
HP:0000035	Abnormal testis morphology	51053	GMNN	ORPHA:2554
HP:0000035	Abnormal testis morphology	51053	GMNN	OMIM:616835
HP:0000035	Abnormal testis morphology	1000	CDH2	OMIM:618929
HP:0000035	Abnormal testis morphology	79576	NKAP	OMIM:301039
HP:0000035	Abnormal testis morphology	25	ABL1	OMIM:617602
HP:0000035	Abnormal testis morphology	545	ATR	OMIM:210600
HP:0000035	Abnormal testis morphology	2313	FLI1	ORPHA:2308
HP:0000035	Abnormal testis morphology	60	ACTB	OMIM:243310
HP:0000035	Abnormal testis morphology	23476	BRD4	ORPHA:199
HP:0000035	Abnormal testis morphology	9126	SMC3	ORPHA:199
HP:0000035	Abnormal testis morphology	9126	SMC3	OMIM:610759
HP:0000035	Abnormal testis morphology	8243	SMC1A	ORPHA:199
HP:0000035	Abnormal testis morphology	5885	RAD21	ORPHA:199
HP:0000035	Abnormal testis morphology	64840	PORCN	OMIM:305600
HP:0000035	Abnormal testis morphology	10664	CTCF	ORPHA:363611
HP:0000035	Abnormal testis morphology	10664	CTCF	OMIM:615502
HP:0000035	Abnormal testis morphology	157680	VPS13B	ORPHA:193
HP:0000035	Abnormal testis morphology	117581	TWIST2	OMIM:209885
HP:0000035	Abnormal testis morphology	25914	RTTN	ORPHA:468631
HP:0000035	Abnormal testis morphology	55617	TASP1	OMIM:618950
HP:0000035	Abnormal testis morphology	28957	MRPS28	OMIM:618958
HP:0000035	Abnormal testis morphology	652	BMP4	ORPHA:139471
HP:0000035	Abnormal testis morphology	652	BMP4	OMIM:607932
HP:0000035	Abnormal testis morphology	153241	CEP120	OMIM:616300
HP:0000035	Abnormal testis morphology	10274	STAG1	OMIM:617635
HP:0000035	Abnormal testis morphology	10274	STAG1	ORPHA:502434
HP:0000035	Abnormal testis morphology	1748	DLX4	OMIM:616788
HP:0000035	Abnormal testis morphology	5879	RAC1	ORPHA:500159
HP:0000035	Abnormal testis morphology	23389	MED13L	OMIM:616789
HP:0000035	Abnormal testis morphology	23389	MED13L	ORPHA:369891
HP:0000035	Abnormal testis morphology	4621	MYH3	ORPHA:2990
HP:0000035	Abnormal testis morphology	4621	MYH3	OMIM:193700
HP:0000035	Abnormal testis morphology	4621	MYH3	ORPHA:2053
HP:0000035	Abnormal testis morphology	1146	CHRNG	ORPHA:2990
HP:0000035	Abnormal testis morphology	1146	CHRNG	OMIM:265000
HP:0000035	Abnormal testis morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000035	Abnormal testis morphology	25782	RAB3GAP2	OMIM:212720
HP:0000035	Abnormal testis morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000035	Abnormal testis morphology	25782	RAB3GAP2	OMIM:614225
HP:0000035	Abnormal testis morphology	5144	PDE4D	ORPHA:280651
HP:0000035	Abnormal testis morphology	5144	PDE4D	ORPHA:439822
HP:0000035	Abnormal testis morphology	5144	PDE4D	ORPHA:950
HP:0000035	Abnormal testis morphology	5144	PDE4D	OMIM:614613
HP:0000035	Abnormal testis morphology	5087	PBX1	OMIM:617641
HP:0000035	Abnormal testis morphology	5087	PBX1	ORPHA:97362
HP:0000035	Abnormal testis morphology	4281	MID1	ORPHA:2745
HP:0000035	Abnormal testis morphology	4281	MID1	OMIM:300000
HP:0000035	Abnormal testis morphology	203068	TUBB	ORPHA:2505
HP:0000035	Abnormal testis morphology	6655	SOS2	OMIM:616559
HP:0000035	Abnormal testis morphology	6655	SOS2	ORPHA:648
HP:0000035	Abnormal testis morphology	246329	STAC3	OMIM:255995
HP:0000035	Abnormal testis morphology	246329	STAC3	ORPHA:168572
HP:0000035	Abnormal testis morphology	64682	ANAPC1	ORPHA:221008
HP:0000035	Abnormal testis morphology	7528	YY1	ORPHA:506358
HP:0000035	Abnormal testis morphology	7528	YY1	OMIM:617557
HP:0000035	Abnormal testis morphology	23141	ANKLE2	OMIM:616681
HP:0000035	Abnormal testis morphology	8294	H4C9	OMIM:619951
HP:0000035	Abnormal testis morphology	6016	RIT1	OMIM:615355
HP:0000035	Abnormal testis morphology	6016	RIT1	ORPHA:648
HP:0000035	Abnormal testis morphology	6938	TCF12	OMIM:619718
HP:0000035	Abnormal testis morphology	3008	H1-4	OMIM:617537
HP:0000035	Abnormal testis morphology	5830	PEX5	OMIM:214110
HP:0000035	Abnormal testis morphology	5830	PEX5	ORPHA:912
HP:0000035	Abnormal testis morphology	64220	STRA6	OMIM:601186
HP:0000035	Abnormal testis morphology	64220	STRA6	ORPHA:2470
HP:0000035	Abnormal testis morphology	2067	ERCC1	ORPHA:90322
HP:0000035	Abnormal testis morphology	1723	DHODH	OMIM:263750
HP:0000035	Abnormal testis morphology	1646	AKR1C2	OMIM:614279
HP:0000035	Abnormal testis morphology	1109	AKR1C4	OMIM:614279
HP:0000035	Abnormal testis morphology	129563	DIS3L2	ORPHA:2849
HP:0000035	Abnormal testis morphology	129563	DIS3L2	OMIM:267000
HP:0000035	Abnormal testis morphology	5189	PEX1	OMIM:214100
HP:0000035	Abnormal testis morphology	5189	PEX1	ORPHA:912
HP:0000035	Abnormal testis morphology	815	CAMK2A	OMIM:617798
HP:0000035	Abnormal testis morphology	4853	NOTCH2	OMIM:102500
HP:0000035	Abnormal testis morphology	1183	CLCN4	ORPHA:485350
HP:0000035	Abnormal testis morphology	64359	NXN	ORPHA:1507
HP:0000035	Abnormal testis morphology	4920	ROR2	ORPHA:1507
HP:0000035	Abnormal testis morphology	4920	ROR2	OMIM:268310
HP:0000035	Abnormal testis morphology	7020	TFAP2A	OMIM:113620
HP:0000035	Abnormal testis morphology	5567	PRKACB	ORPHA:289
HP:0000035	Abnormal testis morphology	2735	GLI1	ORPHA:289
HP:0000035	Abnormal testis morphology	51626	DYNC2LI1	ORPHA:289
HP:0000035	Abnormal testis morphology	54872	PIGG	ORPHA:280
HP:0000035	Abnormal testis morphology	7469	NELFA	ORPHA:280
HP:0000035	Abnormal testis morphology	54968	TMEM70	OMIM:614052
HP:0000035	Abnormal testis morphology	54968	TMEM70	ORPHA:1194
HP:0000035	Abnormal testis morphology	1656	DDX6	OMIM:618653
HP:0000035	Abnormal testis morphology	5424	POLD1	OMIM:615381
HP:0000035	Abnormal testis morphology	57178	ZMIZ1	OMIM:618659
HP:0000035	Abnormal testis morphology	93627	TBCK	ORPHA:488632
HP:0000035	Abnormal testis morphology	2783	GNB2	OMIM:619503
HP:0000035	Abnormal testis morphology	200734	SPRED2	OMIM:619745
HP:0000035	Abnormal testis morphology	200734	SPRED2	ORPHA:648
HP:0000035	Abnormal testis morphology	54888	NSUN2	ORPHA:235
HP:0000035	Abnormal testis morphology	1947	EFNB1	OMIM:304110
HP:0000035	Abnormal testis morphology	253738	EBF3	OMIM:617330
HP:0000035	Abnormal testis morphology	1182	CLCN3	OMIM:619512
HP:0000035	Abnormal testis morphology	8879	SGPL1	OMIM:617575
HP:0000035	Abnormal testis morphology	5792	PTPRF	OMIM:616001
HP:0000035	Abnormal testis morphology	286	ANK1	ORPHA:251066
HP:0000035	Abnormal testis morphology	145258	GSC	OMIM:602471
HP:0000035	Abnormal testis morphology	2312	FLG	ORPHA:461
HP:0000035	Abnormal testis morphology	59336	PRDM13	OMIM:619761
HP:0000035	Abnormal testis morphology	9993	DGCR2	OMIM:192430
HP:0000035	Abnormal testis morphology	8220	ESS2	OMIM:192430
HP:0000035	Abnormal testis morphology	8214	DGCR6	OMIM:192430
HP:0000035	Abnormal testis morphology	54487	DGCR8	OMIM:192430
HP:0000035	Abnormal testis morphology	6925	TCF4	OMIM:610954
HP:0000035	Abnormal testis morphology	6925	TCF4	ORPHA:2896
HP:0000035	Abnormal testis morphology	2316	FLNA	OMIM:304120
HP:0000035	Abnormal testis morphology	5286	PIK3C2A	OMIM:618440
HP:0000035	Abnormal testis morphology	7476	WNT7A	OMIM:276820
HP:0000035	Abnormal testis morphology	7476	WNT7A	ORPHA:2879
HP:0000035	Abnormal testis morphology	833	CARS1	ORPHA:33364
HP:0000035	Abnormal testis morphology	136647	MPLKIP	ORPHA:33364
HP:0000035	Abnormal testis morphology	6897	TARS1	ORPHA:33364
HP:0000035	Abnormal testis morphology	2961	GTF2E2	ORPHA:33364
HP:0000035	Abnormal testis morphology	79087	ALG12	ORPHA:79324
HP:0000035	Abnormal testis morphology	79087	ALG12	OMIM:607143
HP:0000035	Abnormal testis morphology	8295	TRRAP	OMIM:618454
HP:0000035	Abnormal testis morphology	6878	TAF6	OMIM:617126
HP:0000035	Abnormal testis morphology	6654	SOS1	OMIM:610733
HP:0000035	Abnormal testis morphology	6654	SOS1	ORPHA:648
HP:0000035	Abnormal testis morphology	5076	PAX2	ORPHA:97362
HP:0000035	Abnormal testis morphology	10466	COG5	ORPHA:263487
HP:0000035	Abnormal testis morphology	9759	HDAC4	OMIM:619797
HP:0000035	Abnormal testis morphology	6477	SIAH1	OMIM:619314
HP:0000035	Abnormal testis morphology	51728	POLR3K	OMIM:619310
HP:0000035	Abnormal testis morphology	26275	HIBCH	ORPHA:88639
HP:0000035	Abnormal testis morphology	29998	BICRA	OMIM:619325
HP:0000035	Abnormal testis morphology	1363	CPE	OMIM:619326
HP:0000035	Abnormal testis morphology	2710	GK	OMIM:307030
HP:0000035	Abnormal testis morphology	84892	POMGNT2	ORPHA:899
HP:0000035	Abnormal testis morphology	148789	B3GALNT2	ORPHA:899
HP:0000035	Abnormal testis morphology	1282	COL4A1	ORPHA:899
HP:0000035	Abnormal testis morphology	729920	CRPPA	ORPHA:899
HP:0000035	Abnormal testis morphology	10329	RXYLT1	ORPHA:899
HP:0000035	Abnormal testis morphology	1605	DAG1	ORPHA:899
HP:0000035	Abnormal testis morphology	84197	POMK	ORPHA:899
HP:0000035	Abnormal testis morphology	79068	FTO	OMIM:612938
HP:0000035	Abnormal testis morphology	10082	GPC6	OMIM:258315
HP:0000035	Abnormal testis morphology	10082	GPC6	ORPHA:93329
HP:0000035	Abnormal testis morphology	1108	CHD4	OMIM:617159
HP:0000035	Abnormal testis morphology	3265	HRAS	ORPHA:3071
HP:0000035	Abnormal testis morphology	3265	HRAS	ORPHA:2874
HP:0000035	Abnormal testis morphology	10524	KAT5	OMIM:619103
HP:0000035	Abnormal testis morphology	372	ARCN1	OMIM:617164
HP:0000035	Abnormal testis morphology	1822	ATN1	OMIM:618494
HP:0000035	Abnormal testis morphology	26040	SETBP1	OMIM:616078
HP:0000035	Abnormal testis morphology	2475	MTOR	ORPHA:457485
HP:0000035	Abnormal testis morphology	2475	MTOR	OMIM:616638
HP:0000035	Abnormal testis morphology	51715	RAB23	ORPHA:65759
HP:0000035	Abnormal testis morphology	51715	RAB23	OMIM:201000
HP:0000035	Abnormal testis morphology	4990	SIX6	OMIM:206900
HP:0000035	Abnormal testis morphology	9791	PTDSS1	OMIM:151050
HP:0000035	Abnormal testis morphology	9791	PTDSS1	ORPHA:2658
HP:0000035	Abnormal testis morphology	3975	LHX1	ORPHA:261265
HP:0000035	Abnormal testis morphology	6928	HNF1B	ORPHA:261265
HP:0000035	Abnormal testis morphology	29895	MYL11	OMIM:619110
HP:0000035	Abnormal testis morphology	10847	SRCAP	OMIM:619595
HP:0000035	Abnormal testis morphology	10847	SRCAP	ORPHA:2044
HP:0000035	Abnormal testis morphology	10847	SRCAP	OMIM:136140
HP:0000035	Abnormal testis morphology	145173	B3GLCT	OMIM:261540
HP:0000035	Abnormal testis morphology	145173	B3GLCT	ORPHA:709
HP:0000035	Abnormal testis morphology	8468	FKBP6	OMIM:620103
HP:0000035	Abnormal testis morphology	8468	FKBP6	ORPHA:904
HP:0000035	Abnormal testis morphology	1836	SLC26A2	ORPHA:628
HP:0000035	Abnormal testis morphology	4534	MTM1	OMIM:310400
HP:0000035	Abnormal testis morphology	4534	MTM1	ORPHA:456328
HP:0000035	Abnormal testis morphology	84172	POLR1B	ORPHA:861
HP:0000035	Abnormal testis morphology	9533	POLR1C	ORPHA:861
HP:0000035	Abnormal testis morphology	51082	POLR1D	ORPHA:861
HP:0000035	Abnormal testis morphology	90416	CCDC32	OMIM:619123
HP:0000035	Abnormal testis morphology	51339	DACT1	ORPHA:857
HP:0000035	Abnormal testis morphology	22995	CEP152	OMIM:613823
HP:0000035	Abnormal testis morphology	5080	PAX6	ORPHA:893
HP:0000035	Abnormal testis morphology	5080	PAX6	OMIM:194072
HP:0000035	Abnormal testis morphology	627	BDNF	ORPHA:893
HP:0000035	Abnormal testis morphology	57020	VPS35L	OMIM:619135
HP:0000035	Abnormal testis morphology	1984	EIF5A	OMIM:619376
HP:0000035	Abnormal testis morphology	2733	GLE1	OMIM:611890
HP:0000035	Abnormal testis morphology	22800	RRAS2	ORPHA:648
HP:0000035	Abnormal testis morphology	867	CBL	ORPHA:648
HP:0000035	Abnormal testis morphology	867	CBL	OMIM:613563
HP:0000035	Abnormal testis morphology	6237	RRAS	ORPHA:648
HP:0000035	Abnormal testis morphology	22808	MRAS	ORPHA:648
HP:0000035	Abnormal testis morphology	3845	KRAS	ORPHA:648
HP:0000035	Abnormal testis morphology	3845	KRAS	ORPHA:1340
HP:0000035	Abnormal testis morphology	3845	KRAS	OMIM:609942
HP:0000035	Abnormal testis morphology	5922	RASA2	ORPHA:648
HP:0000035	Abnormal testis morphology	59	ACTA2	OMIM:613834
HP:0000035	Abnormal testis morphology	4693	NDP	ORPHA:649
HP:0000035	Abnormal testis morphology	3239	HOXD13	ORPHA:887
HP:0000035	Abnormal testis morphology	221692	PHACTR1	OMIM:618298
HP:0000035	Abnormal testis morphology	219844	HYLS1	ORPHA:2189
HP:0000035	Abnormal testis morphology	4713	NDUFB7	OMIM:620135
HP:0000035	Abnormal testis morphology	5605	MAP2K2	ORPHA:638
HP:0000035	Abnormal testis morphology	5605	MAP2K2	ORPHA:1340
HP:0000035	Abnormal testis morphology	9325	TRIP4	ORPHA:486815
HP:0000035	Abnormal testis morphology	83483	PLVAP	OMIM:618183
HP:0000035	Abnormal testis morphology	341640	FREM2	ORPHA:2052
HP:0000035	Abnormal testis morphology	23426	GRIP1	ORPHA:2052
HP:0000035	Abnormal testis morphology	10046	MAMLD1	ORPHA:456328
HP:0000035	Abnormal testis morphology	10046	MAMLD1	ORPHA:95706
HP:0000035	Abnormal testis morphology	83700	JAM3	OMIM:613730
HP:0000035	Abnormal testis morphology	2904	GRIN2B	OMIM:613970
HP:0000035	Abnormal testis morphology	8854	ALDH1A2	OMIM:620025
HP:0000035	Abnormal testis morphology	55777	MBD5	ORPHA:228402
HP:0000035	Abnormal testis morphology	3636	INPPL1	ORPHA:3144
HP:0000035	Abnormal testis morphology	23169	SLC35D1	ORPHA:3144
HP:0000035	Abnormal testis morphology	8496	PPFIBP1	OMIM:620024
HP:0000035	Abnormal testis morphology	4983	OPHN1	OMIM:300486
HP:0000035	Abnormal testis morphology	22858	CILK1	OMIM:612651
HP:0000035	Abnormal testis morphology	6926	TBX3	ORPHA:3138
HP:0000035	Abnormal testis morphology	3703	STT3A	ORPHA:370921
HP:0000035	Abnormal testis morphology	26053	AUTS2	ORPHA:352490
HP:0000035	Abnormal testis morphology	5826	ABCD4	OMIM:614857
HP:0000035	Abnormal testis morphology	1857	DVL3	ORPHA:3107
HP:0000035	Abnormal testis morphology	1857	DVL3	OMIM:616894
HP:0000035	Abnormal testis morphology	5828	PEX2	OMIM:614866
HP:0000035	Abnormal testis morphology	5828	PEX2	ORPHA:912
HP:0000035	Abnormal testis morphology	6804	STX1A	ORPHA:904
HP:0000035	Abnormal testis morphology	7461	CLIP2	ORPHA:904
HP:0000035	Abnormal testis morphology	84277	DNAJC30	ORPHA:904
HP:0000035	Abnormal testis morphology	5982	RFC2	ORPHA:904
HP:0000035	Abnormal testis morphology	2969	GTF2I	ORPHA:904
HP:0000035	Abnormal testis morphology	3984	LIMK1	ORPHA:904
HP:0000035	Abnormal testis morphology	9569	GTF2IRD1	ORPHA:904
HP:0000035	Abnormal testis morphology	155382	VPS37D	ORPHA:904
HP:0000035	Abnormal testis morphology	155368	METTL27	ORPHA:904
HP:0000035	Abnormal testis morphology	114049	BUD23	ORPHA:904
HP:0000035	Abnormal testis morphology	7458	EIF4H	ORPHA:904
HP:0000035	Abnormal testis morphology	84163	GTF2IRD2	ORPHA:904
HP:0000035	Abnormal testis morphology	9275	BCL7B	ORPHA:904
HP:0000035	Abnormal testis morphology	26608	TBL2	ORPHA:904
HP:0000035	Abnormal testis morphology	653361	NCF1	ORPHA:904
HP:0000035	Abnormal testis morphology	135886	TMEM270	ORPHA:904
HP:0000035	Abnormal testis morphology	51085	MLXIPL	ORPHA:904
HP:0000035	Abnormal testis morphology	9031	BAZ1B	ORPHA:904
HP:0000035	Abnormal testis morphology	2006	ELN	ORPHA:904
HP:0000035	Abnormal testis morphology	157570	ESCO2	ORPHA:3103
HP:0000035	Abnormal testis morphology	157570	ESCO2	OMIM:268300
HP:0000035	Abnormal testis morphology	10236	HNRNPR	OMIM:620073
HP:0000035	Abnormal testis morphology	5700	PSMC1	OMIM:620071
HP:0000035	Abnormal testis morphology	5594	MAPK1	OMIM:619087
HP:0000035	Abnormal testis morphology	5324	PLAG1	ORPHA:397590
HP:0000035	Abnormal testis morphology	8091	HMGA2	ORPHA:397590
HP:0000035	Abnormal testis morphology	25802	LMOD1	ORPHA:2241
HP:0000035	Abnormal testis morphology	4629	MYH11	ORPHA:2241
HP:0000035	Abnormal testis morphology	72	ACTG2	ORPHA:2241
HP:0000035	Abnormal testis morphology	4638	MYLK	ORPHA:2241
HP:0000035	Abnormal testis morphology	5832	ALDH18A1	OMIM:219150
HP:0000035	Abnormal testis morphology	84919	PPP1R15B	OMIM:616817
HP:0000035	Abnormal testis morphology	51244	CCDC174	OMIM:616816
HP:0000035	Abnormal testis morphology	3187	HNRNPH1	OMIM:620083
HP:0000035	Abnormal testis morphology	5915	RARB	ORPHA:2470
HP:0000035	Abnormal testis morphology	5915	RARB	OMIM:615524
HP:0000035	Abnormal testis morphology	254065	BRWD3	OMIM:300659
HP:0000035	Abnormal testis morphology	3784	KCNQ1	OMIM:130650
HP:0000035	Abnormal testis morphology	50945	TBX22	ORPHA:921
HP:0000035	Abnormal testis morphology	5631	PRPS1	OMIM:300661
HP:0000035	Abnormal testis morphology	55670	PEX26	ORPHA:912
HP:0000035	Abnormal testis morphology	5824	PEX19	ORPHA:912
HP:0000035	Abnormal testis morphology	8504	PEX3	ORPHA:912
HP:0000035	Abnormal testis morphology	9409	PEX16	ORPHA:912
HP:0000035	Abnormal testis morphology	5190	PEX6	ORPHA:912
HP:0000035	Abnormal testis morphology	5193	PEX12	ORPHA:912
HP:0000035	Abnormal testis morphology	5194	PEX13	ORPHA:912
HP:0000035	Abnormal testis morphology	5195	PEX14	ORPHA:912
HP:0000035	Abnormal testis morphology	5192	PEX10	ORPHA:912
HP:0000035	Abnormal testis morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000035	Abnormal testis morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000035	Abnormal testis morphology	8626	TP63	OMIM:604292
HP:0000035	Abnormal testis morphology	7473	WNT3	ORPHA:3301
HP:0000035	Abnormal testis morphology	340419	RSPO2	ORPHA:3301
HP:0000035	Abnormal testis morphology	274	BIN1	ORPHA:169189
HP:0000035	Abnormal testis morphology	64419	MTMR14	ORPHA:169189
HP:0000035	Abnormal testis morphology	4618	MYF6	ORPHA:169189
HP:0000035	Abnormal testis morphology	1785	DNM2	ORPHA:169189
HP:0000035	Abnormal testis morphology	2702	GJA5	ORPHA:3303
HP:0000035	Abnormal testis morphology	1482	NKX2-5	ORPHA:3303
HP:0000035	Abnormal testis morphology	137814	NKX2-6	ORPHA:3303
HP:0000035	Abnormal testis morphology	3791	KDR	ORPHA:3303
HP:0000035	Abnormal testis morphology	2627	GATA6	ORPHA:3303
HP:0000035	Abnormal testis morphology	2657	GDF1	ORPHA:3303
HP:0000035	Abnormal testis morphology	182	JAG1	ORPHA:3303
HP:0000035	Abnormal testis morphology	140628	GATA5	ORPHA:3303
HP:0000035	Abnormal testis morphology	10370	CITED2	ORPHA:3303
HP:0000035	Abnormal testis morphology	2623	GATA1	ORPHA:67044
HP:0000035	Abnormal testis morphology	113179	ADAT3	ORPHA:363528
HP:0000035	Abnormal testis morphology	55784	MCTP2	ORPHA:1596
HP:0000035	Abnormal testis morphology	5831	PYCR1	OMIM:614438
HP:0000035	Abnormal testis morphology	4297	KMT2A	OMIM:605130
HP:0000035	Abnormal testis morphology	2592	GALT	ORPHA:79239
HP:0000035	Abnormal testis morphology	10265	IRX5	OMIM:611174
HP:0000035	Abnormal testis morphology	7874	USP7	OMIM:616863
HP:0000035	Abnormal testis morphology	7874	USP7	ORPHA:500055
HP:0000035	Abnormal testis morphology	5604	MAP2K1	ORPHA:1340
HP:0000035	Abnormal testis morphology	5604	MAP2K1	OMIM:163950
HP:0000035	Abnormal testis morphology	79633	FAT4	OMIM:615546
HP:0000035	Abnormal testis morphology	7074	TIAM1	OMIM:619908
HP:0000035	Abnormal testis morphology	29957	SLC25A24	OMIM:612289
HP:0000035	Abnormal testis morphology	4659	PPP1R12A	OMIM:618820
HP:0000035	Abnormal testis morphology	8087	FXR1	OMIM:618822
HP:0000035	Abnormal testis morphology	8087	FXR1	OMIM:618823
HP:0000035	Abnormal testis morphology	8905	AP1S2	ORPHA:1568
HP:0000035	Abnormal testis morphology	51124	IER3IP1	OMIM:614231
HP:0000035	Abnormal testis morphology	8241	RBM10	ORPHA:2886
HP:0000035	Abnormal testis morphology	51780	KDM3B	OMIM:618846
HP:0000035	Abnormal testis morphology	5455	POU3F3	OMIM:618604
HP:0000035	Abnormal testis morphology	5718	PSMD12	OMIM:617516
HP:0000035	Abnormal testis morphology	3251	HPRT1	OMIM:300322
HP:0000035	Abnormal testis morphology	7466	WFS1	OMIM:222300
HP:0000035	Abnormal testis morphology	5428	POLG	OMIM:157640
HP:0000035	Abnormal testis morphology	2245	FGD1	OMIM:305400
HP:0000035	Abnormal testis morphology	654	BMP6	ORPHA:465508
HP:0000035	Abnormal testis morphology	3077	HFE	ORPHA:465508
HP:0000035	Abnormal testis morphology	3077	HFE	OMIM:235200
HP:0000035	Abnormal testis morphology	1760	DMPK	OMIM:160900
HP:0000035	Abnormal testis morphology	650	BMP2	OMIM:235200
HP:0000035	Abnormal testis morphology	54345	SOX18	OMIM:137940
HP:0000035	Abnormal testis morphology	54345	SOX18	ORPHA:69735
HP:0000035	Abnormal testis morphology	54345	SOX18	OMIM:607823
HP:0000035	Abnormal testis morphology	1802	DPH2	OMIM:620062
HP:0000035	Abnormal testis morphology	5290	PIK3CA	ORPHA:276280
HP:0000035	Abnormal testis morphology	5290	PIK3CA	OMIM:615108
HP:0000035	Abnormal testis morphology	54914	FOCAD	OMIM:619991
HP:0000035	Abnormal testis morphology	9780	PIEZO1	OMIM:616843
HP:0000035	Abnormal testis morphology	8085	KMT2D	OMIM:620186
HP:0000035	Abnormal testis morphology	64324	NSD1	ORPHA:821
HP:0000035	Abnormal testis morphology	29072	SETD2	ORPHA:821
HP:0000035	Abnormal testis morphology	10297	APC2	ORPHA:821
HP:0000035	Abnormal testis morphology	9839	ZEB2	ORPHA:261537
HP:0000035	Abnormal testis morphology	9839	ZEB2	ORPHA:261552
HP:0000035	Abnormal testis morphology	23556	PIGN	ORPHA:280633
HP:0000035	Abnormal testis morphology	23556	PIGN	OMIM:614080
HP:0000035	Abnormal testis morphology	7750	ZMYM2	OMIM:619522
HP:0000035	Abnormal testis morphology	2324	FLT4	OMIM:153100
HP:0000035	Abnormal testis morphology	2324	FLT4	ORPHA:79452
HP:0000035	Abnormal testis morphology	285	ANGPT2	OMIM:619369
HP:0000035	Abnormal testis morphology	9508	ADAMTS3	OMIM:618154
HP:0000035	Abnormal testis morphology	9739	SETD1A	OMIM:618832
HP:0000035	Abnormal testis morphology	2033	EP300	ORPHA:353284
HP:0000035	Abnormal testis morphology	7841	MOGS	ORPHA:79330
HP:0000035	Abnormal testis morphology	57165	GJC2	ORPHA:79452
HP:0000035	Abnormal testis morphology	2122	MECOM	OMIM:616738
HP:0000035	Abnormal testis morphology	80267	EDEM3	OMIM:619493
HP:0000035	Abnormal testis morphology	1387	CREBBP	ORPHA:353277
HP:0000035	Abnormal testis morphology	9487	PIGL	OMIM:280000
HP:0000035	Abnormal testis morphology	2146	EZH2	OMIM:277590
HP:0000035	Abnormal testis morphology	8799	PEX11B	OMIM:614920
HP:0000035	Abnormal testis morphology	55901	THSD1	OMIM:620244
HP:0000035	Abnormal testis morphology	6899	TBX1	OMIM:188400
HP:0000035	Abnormal testis morphology	1468	SLC25A10	OMIM:618972
HP:0000035	Abnormal testis morphology	23384	SPECC1L	OMIM:145420
HP:0000035	Abnormal testis morphology	55210	ATAD3A	OMIM:618810
HP:0000035	Abnormal testis morphology	29969	MDFIC	OMIM:620014
HP:0000035	Abnormal testis morphology	7424	VEGFC	OMIM:615907
HP:0000035	Abnormal testis morphology	472	ATM	ORPHA:100
HP:0000035	Abnormal testis morphology	6595	SMARCA2	ORPHA:3051
HP:0000035	Abnormal testis morphology	92840	REEP6	ORPHA:791
HP:0000035	Abnormal testis morphology	6094	ROM1	ORPHA:791
HP:0000035	Abnormal testis morphology	6017	RLBP1	ORPHA:791
HP:0000035	Abnormal testis morphology	7401	CLRN1	ORPHA:791
HP:0000035	Abnormal testis morphology	24	ABCA4	ORPHA:791
HP:0000035	Abnormal testis morphology	130557	ZNF513	ORPHA:791
HP:0000035	Abnormal testis morphology	92211	CDHR1	ORPHA:791
HP:0000035	Abnormal testis morphology	23568	ARL2BP	ORPHA:791
HP:0000035	Abnormal testis morphology	6121	RPE65	ORPHA:791
HP:0000035	Abnormal testis morphology	54806	AHI1	ORPHA:791
HP:0000035	Abnormal testis morphology	6101	RP1	ORPHA:791
HP:0000035	Abnormal testis morphology	3419	IDH3A	ORPHA:791
HP:0000035	Abnormal testis morphology	4751	NEK2	ORPHA:791
HP:0000035	Abnormal testis morphology	346007	EYS	ORPHA:791
HP:0000035	Abnormal testis morphology	8100	IFT88	ORPHA:791
HP:0000035	Abnormal testis morphology	23020	SNRNP200	ORPHA:791
HP:0000035	Abnormal testis morphology	762	CA4	ORPHA:791
HP:0000035	Abnormal testis morphology	138050	HGSNAT	ORPHA:791
HP:0000035	Abnormal testis morphology	196	AHR	ORPHA:791
HP:0000035	Abnormal testis morphology	3614	IMPDH1	ORPHA:791
HP:0000035	Abnormal testis morphology	123016	TTC8	ORPHA:791
HP:0000035	Abnormal testis morphology	6103	RPGR	ORPHA:791
HP:0000035	Abnormal testis morphology	1406	CRX	ORPHA:791
HP:0000035	Abnormal testis morphology	5148	PDE6G	ORPHA:791
HP:0000035	Abnormal testis morphology	26160	IFT172	ORPHA:791
HP:0000035	Abnormal testis morphology	26121	PRPF31	ORPHA:791
HP:0000035	Abnormal testis morphology	583	BBS2	ORPHA:791
HP:0000035	Abnormal testis morphology	4117	MAK	ORPHA:791
HP:0000035	Abnormal testis morphology	25794	FSCN2	ORPHA:791
HP:0000035	Abnormal testis morphology	375298	CERKL	ORPHA:791
HP:0000035	Abnormal testis morphology	3420	IDH3B	ORPHA:791
HP:0000035	Abnormal testis morphology	57670	KIAA1549	ORPHA:791
HP:0000035	Abnormal testis morphology	7275	TUB	ORPHA:791
HP:0000035	Abnormal testis morphology	24148	PRPF6	ORPHA:791
HP:0000035	Abnormal testis morphology	23418	CRB1	ORPHA:791
HP:0000035	Abnormal testis morphology	10461	MERTK	ORPHA:791
HP:0000035	Abnormal testis morphology	57709	SLC7A14	ORPHA:791
HP:0000035	Abnormal testis morphology	768206	PRCD	ORPHA:791
HP:0000035	Abnormal testis morphology	7399	USH2A	ORPHA:791
HP:0000035	Abnormal testis morphology	23370	ARHGEF18	ORPHA:791
HP:0000035	Abnormal testis morphology	5949	RBP3	ORPHA:791
HP:0000035	Abnormal testis morphology	6010	RHO	ORPHA:791
HP:0000035	Abnormal testis morphology	6100	RP9	ORPHA:791
HP:0000035	Abnormal testis morphology	10002	NR2E3	ORPHA:791
HP:0000035	Abnormal testis morphology	9227	LRAT	ORPHA:791
HP:0000035	Abnormal testis morphology	84140	FAM161A	ORPHA:791
HP:0000035	Abnormal testis morphology	55812	SPATA7	ORPHA:791
HP:0000035	Abnormal testis morphology	55624	POMGNT1	ORPHA:791
HP:0000035	Abnormal testis morphology	79797	ZNF408	ORPHA:791
HP:0000035	Abnormal testis morphology	403	ARL3	ORPHA:791
HP:0000035	Abnormal testis morphology	5145	PDE6A	ORPHA:791
HP:0000035	Abnormal testis morphology	10210	TOPORS	ORPHA:791
HP:0000035	Abnormal testis morphology	8842	PROM1	ORPHA:791
HP:0000035	Abnormal testis morphology	9128	PRPF4	ORPHA:791
HP:0000035	Abnormal testis morphology	145226	RDH12	ORPHA:791
HP:0000035	Abnormal testis morphology	50939	IMPG2	ORPHA:791
HP:0000035	Abnormal testis morphology	8481	OFD1	ORPHA:791
HP:0000035	Abnormal testis morphology	49855	SCAPER	ORPHA:791
HP:0000035	Abnormal testis morphology	9742	IFT140	ORPHA:791
HP:0000035	Abnormal testis morphology	2979	GUCA1B	ORPHA:791
HP:0000035	Abnormal testis morphology	1259	CNGA1	ORPHA:791
HP:0000035	Abnormal testis morphology	1258	CNGB1	ORPHA:791
HP:0000035	Abnormal testis morphology	60509	AGBL5	ORPHA:791
HP:0000035	Abnormal testis morphology	5961	PRPH2	ORPHA:791
HP:0000035	Abnormal testis morphology	388939	PCARE	ORPHA:791
HP:0000035	Abnormal testis morphology	7439	BEST1	ORPHA:791
HP:0000035	Abnormal testis morphology	9785	DHX38	ORPHA:791
HP:0000035	Abnormal testis morphology	7287	TULP1	ORPHA:791
HP:0000035	Abnormal testis morphology	5995	RGR	ORPHA:791
HP:0000035	Abnormal testis morphology	9129	PRPF3	ORPHA:791
HP:0000035	Abnormal testis morphology	55975	KLHL7	ORPHA:791
HP:0000035	Abnormal testis morphology	3617	IMPG1	ORPHA:791
HP:0000035	Abnormal testis morphology	94137	RP1L1	ORPHA:791
HP:0000035	Abnormal testis morphology	5158	PDE6B	ORPHA:791
HP:0000035	Abnormal testis morphology	6102	RP2	ORPHA:791
HP:0000035	Abnormal testis morphology	55857	KIZ	ORPHA:791
HP:0000035	Abnormal testis morphology	64218	SEMA4A	ORPHA:791
HP:0000035	Abnormal testis morphology	4901	NRL	ORPHA:791
HP:0000035	Abnormal testis morphology	157657	CFAP418	ORPHA:791
HP:0000035	Abnormal testis morphology	10594	PRPF8	ORPHA:791
HP:0000035	Abnormal testis morphology	6295	SAG	ORPHA:791
HP:0000035	Abnormal testis morphology	79947	DHDDS	ORPHA:791
HP:0000035	Abnormal testis morphology	80169	CTC1	ORPHA:1775
HP:0000035	Abnormal testis morphology	26277	TINF2	ORPHA:1775
HP:0000035	Abnormal testis morphology	55651	NHP2	ORPHA:1775
HP:0000035	Abnormal testis morphology	79650	USB1	ORPHA:1775
HP:0000035	Abnormal testis morphology	55135	WRAP53	ORPHA:1775
HP:0000035	Abnormal testis morphology	51750	RTEL1	ORPHA:1775
HP:0000035	Abnormal testis morphology	4869	NPM1	ORPHA:1775
HP:0000035	Abnormal testis morphology	7012	TERC	ORPHA:1775
HP:0000035	Abnormal testis morphology	55505	NOP10	ORPHA:1775
HP:0000035	Abnormal testis morphology	5073	PARN	ORPHA:1775
HP:0000035	Abnormal testis morphology	7015	TERT	ORPHA:1775
HP:0000035	Abnormal testis morphology	2697	GJA1	ORPHA:317
HP:0000035	Abnormal testis morphology	2707	GJB3	ORPHA:317
HP:0000035	Abnormal testis morphology	2531	KDSR	ORPHA:317
HP:0000035	Abnormal testis morphology	127534	GJB4	ORPHA:317
HP:0000035	Abnormal testis morphology	79813	EHMT1	ORPHA:96147
HP:0000035	Abnormal testis morphology	4000	LMNA	ORPHA:79474
HP:0000035	Abnormal testis morphology	54539	NDUFB11	ORPHA:2556
HP:0000035	Abnormal testis morphology	1349	COX7B	ORPHA:2556
HP:0000035	Abnormal testis morphology	3052	HCCS	ORPHA:2556
HP:0000035	Abnormal testis morphology	4204	MECP2	OMIM:300055
HP:0000035	Abnormal testis morphology	4204	MECP2	ORPHA:3077
HP:0000035	Abnormal testis morphology	27316	RBMX	OMIM:300238
HP:0000035	Abnormal testis morphology	8367	H4C5	OMIM:619950
HP:0000035	Abnormal testis morphology	4763	NF1	ORPHA:139474
HP:0000035	Abnormal testis morphology	9968	MED12	OMIM:309520
HP:0000035	Abnormal testis morphology	9968	MED12	ORPHA:776
HP:0000035	Abnormal testis morphology	11141	IL1RAPL1	OMIM:300143
HP:0000035	Abnormal testis morphology	1193	CLIC2	OMIM:300886
HP:0000035	Abnormal testis morphology	1193	CLIC2	ORPHA:324410
HP:0000035	Abnormal testis morphology	175	AGA	OMIM:208400
HP:0000035	Abnormal testis morphology	175	AGA	ORPHA:93
HP:0000035	Abnormal testis morphology	51114	ZDHHC9	ORPHA:776
HP:0000035	Abnormal testis morphology	65109	UPF3B	ORPHA:776
HP:0000035	Abnormal testis morphology	7252	TSHB	ORPHA:90674
HP:0000035	Abnormal testis morphology	1588	CYP19A1	ORPHA:91
HP:0000035	Abnormal testis morphology	6794	STK11	OMIM:175200
HP:0000035	Abnormal testis morphology	3476	IGBP1	OMIM:300472
HP:0000035	Abnormal testis morphology	60529	ALX4	OMIM:613451
HP:0000035	Abnormal testis morphology	26005	C2CD3	ORPHA:434179
HP:0000035	Abnormal testis morphology	26137	ZBTB20	OMIM:259050
HP:0000035	Abnormal testis morphology	26137	ZBTB20	ORPHA:3042
HP:0000035	Abnormal testis morphology	55610	VPS50	OMIM:619685
HP:0000035	Abnormal testis morphology	2222	FDFT1	OMIM:618156
HP:0000035	Abnormal testis morphology	4953	ODC1	ORPHA:544488
HP:0000035	Abnormal testis morphology	7291	TWIST1	OMIM:617746
HP:0000035	Abnormal testis morphology	50485	SMARCAL1	OMIM:242900
HP:0000035	Abnormal testis morphology	10667	FARS2	ORPHA:466722
HP:0000035	Abnormal testis morphology	4841	NONO	ORPHA:466791
HP:0000035	Abnormal testis morphology	4047	LSS	OMIM:618840
HP:0000035	Abnormal testis morphology	55870	ASH1L	OMIM:617796
HP:0000035	Abnormal testis morphology	10606	PAICS	OMIM:619859
HP:0000035	Abnormal testis morphology	7994	KAT6A	OMIM:616268
HP:0000035	Abnormal testis morphology	10584	COLEC10	ORPHA:293843
HP:0000035	Abnormal testis morphology	5648	MASP1	ORPHA:293843
HP:0000035	Abnormal testis morphology	78989	COLEC11	ORPHA:293843
HP:0000035	Abnormal testis morphology	2074	ERCC6	OMIM:278800
HP:0000035	Abnormal testis morphology	1009	CDH11	OMIM:211380
HP:0000035	Abnormal testis morphology	9851	KIAA0753	ORPHA:2754
HP:0000035	Abnormal testis morphology	5147	PDE6D	ORPHA:2754
HP:0000035	Abnormal testis morphology	65250	CPLANE1	ORPHA:2754
HP:0000035	Abnormal testis morphology	51259	TMEM216	ORPHA:2754
HP:0000035	Abnormal testis morphology	317662	FAM149B1	ORPHA:2754
HP:0000035	Abnormal testis morphology	374654	KIF7	ORPHA:2754
HP:0000035	Abnormal testis morphology	80311	KLHL15	OMIM:300982
HP:0000035	Abnormal testis morphology	404672	GTF2H5	OMIM:616395
HP:0000035	Abnormal testis morphology	6261	RYR1	OMIM:619542
HP:0000035	Abnormal testis morphology	22884	WDR37	OMIM:618652
HP:0000035	Abnormal testis morphology	54101	RIPK4	OMIM:263650
HP:0000035	Abnormal testis morphology	4174	MCM5	OMIM:617564
HP:0000035	Abnormal testis morphology	269	AMHR2	OMIM:261550
HP:0000035	Abnormal testis morphology	268	AMH	OMIM:261550
HP:0000035	Abnormal testis morphology	523	ATP6V1A	OMIM:617403
HP:0000035	Abnormal testis morphology	529	ATP6V1E1	OMIM:617402
HP:0000035	Abnormal testis morphology	1954	MEGF8	OMIM:614976
HP:0000035	Abnormal testis morphology	5426	POLE	OMIM:618336
HP:0000035	Abnormal testis morphology	1761	DMRT1	ORPHA:242
HP:0000035	Abnormal testis morphology	84733	CBX2	ORPHA:242
HP:0000035	Abnormal testis morphology	50846	DHH	ORPHA:242
HP:0000035	Abnormal testis morphology	50846	DHH	ORPHA:168563
HP:0000035	Abnormal testis morphology	7259	TSPYL1	OMIM:608800
HP:0000035	Abnormal testis morphology	2737	GLI3	ORPHA:672
HP:0000035	Abnormal testis morphology	2737	GLI3	OMIM:146510
HP:0000035	Abnormal testis morphology	2260	FGFR1	ORPHA:432
HP:0000035	Abnormal testis morphology	2260	FGFR1	ORPHA:478
HP:0000035	Abnormal testis morphology	81848	SPRY4	ORPHA:432
HP:0000035	Abnormal testis morphology	81848	SPRY4	OMIM:146110
HP:0000035	Abnormal testis morphology	81848	SPRY4	ORPHA:478
HP:0000035	Abnormal testis morphology	128674	PROKR2	ORPHA:432
HP:0000035	Abnormal testis morphology	128674	PROKR2	ORPHA:478
HP:0000035	Abnormal testis morphology	2253	FGF8	ORPHA:432
HP:0000035	Abnormal testis morphology	2253	FGF8	ORPHA:478
HP:0000035	Abnormal testis morphology	60675	PROK2	ORPHA:432
HP:0000035	Abnormal testis morphology	60675	PROK2	OMIM:610628
HP:0000035	Abnormal testis morphology	60675	PROK2	ORPHA:478
HP:0000035	Abnormal testis morphology	55636	CHD7	ORPHA:432
HP:0000035	Abnormal testis morphology	55636	CHD7	ORPHA:478
HP:0000035	Abnormal testis morphology	6870	TACR3	ORPHA:432
HP:0000035	Abnormal testis morphology	6870	TACR3	OMIM:614840
HP:0000035	Abnormal testis morphology	6870	TACR3	ORPHA:478
HP:0000035	Abnormal testis morphology	1848	DUSP6	ORPHA:432
HP:0000035	Abnormal testis morphology	1848	DUSP6	OMIM:146110
HP:0000035	Abnormal testis morphology	1848	DUSP6	ORPHA:478
HP:0000035	Abnormal testis morphology	26012	NSMF	ORPHA:432
HP:0000035	Abnormal testis morphology	26012	NSMF	OMIM:614838
HP:0000035	Abnormal testis morphology	55717	WDR11	ORPHA:432
HP:0000035	Abnormal testis morphology	55717	WDR11	OMIM:146110
HP:0000035	Abnormal testis morphology	55717	WDR11	OMIM:614858
HP:0000035	Abnormal testis morphology	55717	WDR11	ORPHA:478
HP:0000035	Abnormal testis morphology	9394	HS6ST1	ORPHA:432
HP:0000035	Abnormal testis morphology	9394	HS6ST1	OMIM:614880
HP:0000035	Abnormal testis morphology	9394	HS6ST1	ORPHA:478
HP:0000035	Abnormal testis morphology	2796	GNRH1	ORPHA:432
HP:0000035	Abnormal testis morphology	2796	GNRH1	OMIM:614841
HP:0000035	Abnormal testis morphology	2796	GNRH1	OMIM:146110
HP:0000035	Abnormal testis morphology	2798	GNRHR	ORPHA:432
HP:0000035	Abnormal testis morphology	2798	GNRHR	OMIM:146110
HP:0000035	Abnormal testis morphology	84634	KISS1R	ORPHA:432
HP:0000035	Abnormal testis morphology	84634	KISS1R	OMIM:614837
HP:0000035	Abnormal testis morphology	6866	TAC3	ORPHA:432
HP:0000035	Abnormal testis morphology	8822	FGF17	ORPHA:432
HP:0000035	Abnormal testis morphology	8822	FGF17	OMIM:146110
HP:0000035	Abnormal testis morphology	8822	FGF17	ORPHA:478
HP:0000035	Abnormal testis morphology	3814	KISS1	ORPHA:432
HP:0000035	Abnormal testis morphology	6658	SOX3	ORPHA:393
HP:0000035	Abnormal testis morphology	6658	SOX3	ORPHA:90695
HP:0000035	Abnormal testis morphology	8450	CUL4B	OMIM:300354
HP:0000035	Abnormal testis morphology	8450	CUL4B	ORPHA:85293
HP:0000035	Abnormal testis morphology	3763	KCNJ6	ORPHA:435628
HP:0000035	Abnormal testis morphology	6134	RPL10	OMIM:300998
HP:0000035	Abnormal testis morphology	6134	RPL10	ORPHA:459070
HP:0000035	Abnormal testis morphology	8473	OGT	OMIM:300997
HP:0000035	Abnormal testis morphology	23314	SATB2	ORPHA:251028
HP:0000035	Abnormal testis morphology	23314	SATB2	ORPHA:251019
HP:0000035	Abnormal testis morphology	84515	MCM8	OMIM:612885
HP:0000035	Abnormal testis morphology	1736	DKC1	OMIM:305000
HP:0000035	Abnormal testis morphology	1131	CHRM3	ORPHA:2970
HP:0000035	Abnormal testis morphology	2200	FBN1	ORPHA:284979
HP:0000035	Abnormal testis morphology	7258	TSPY1	ORPHA:1646
HP:0000035	Abnormal testis morphology	57055	DAZ2	ORPHA:1646
HP:0000035	Abnormal testis morphology	57135	DAZ4	ORPHA:1646
HP:0000035	Abnormal testis morphology	8287	USP9Y	ORPHA:1646
HP:0000035	Abnormal testis morphology	5940	RBMY1A1	ORPHA:1646
HP:0000035	Abnormal testis morphology	57054	DAZ3	ORPHA:1646
HP:0000035	Abnormal testis morphology	8653	DDX3Y	ORPHA:1646
HP:0000035	Abnormal testis morphology	1617	DAZ1	ORPHA:1646
HP:0000035	Abnormal testis morphology	10084	PQBP1	ORPHA:93950
HP:0000035	Abnormal testis morphology	10084	PQBP1	OMIM:309500
HP:0000035	Abnormal testis morphology	9150	CTDP1	OMIM:604168
HP:0000035	Abnormal testis morphology	55869	HDAC8	OMIM:300882
HP:0000035	Abnormal testis morphology	1584	CYP11B1	OMIM:202010
HP:0000035	Abnormal testis morphology	201134	CEP112	OMIM:619044
HP:0000035	Abnormal testis morphology	8882	ZPR1	OMIM:619321
HP:0000035	Abnormal testis morphology	1528	CYB5A	ORPHA:90796
HP:0000035	Abnormal testis morphology	1586	CYP17A1	ORPHA:90796
HP:0000035	Abnormal testis morphology	131118	DNAJC19	OMIM:610198
HP:0000035	Abnormal testis morphology	1028	CDKN1C	ORPHA:436144
HP:0000035	Abnormal testis morphology	6492	SIM1	ORPHA:398079
HP:0000035	Abnormal testis morphology	140801	RPL10L	OMIM:619689
HP:0000035	Abnormal testis morphology	3952	LEP	ORPHA:66628
HP:0000035	Abnormal testis morphology	3952	LEP	OMIM:614962
HP:0000035	Abnormal testis morphology	3284	HSD3B2	ORPHA:90791
HP:0000035	Abnormal testis morphology	7298	TYMS	OMIM:620040
HP:0000035	Abnormal testis morphology	6638	SNRPN	ORPHA:177904
HP:0000035	Abnormal testis morphology	6638	SNRPN	ORPHA:177901
HP:0000035	Abnormal testis morphology	6638	SNRPN	ORPHA:98754
HP:0000035	Abnormal testis morphology	4692	NDN	ORPHA:177904
HP:0000035	Abnormal testis morphology	4692	NDN	ORPHA:177901
HP:0000035	Abnormal testis morphology	4692	NDN	ORPHA:98754
HP:0000035	Abnormal testis morphology	54551	MAGEL2	ORPHA:177904
HP:0000035	Abnormal testis morphology	54551	MAGEL2	ORPHA:177901
HP:0000035	Abnormal testis morphology	54551	MAGEL2	ORPHA:398069
HP:0000035	Abnormal testis morphology	54551	MAGEL2	ORPHA:98754
HP:0000035	Abnormal testis morphology	4948	OCA2	ORPHA:177904
HP:0000035	Abnormal testis morphology	4948	OCA2	ORPHA:177901
HP:0000035	Abnormal testis morphology	4948	OCA2	ORPHA:98754
HP:0000035	Abnormal testis morphology	170302	ARX	OMIM:300215
HP:0000035	Abnormal testis morphology	51132	RLIM	OMIM:300978
HP:0000035	Abnormal testis morphology	8260	NAA10	OMIM:300855
HP:0000035	Abnormal testis morphology	3973	LHCGR	OMIM:176410
HP:0000035	Abnormal testis morphology	84100	ARL6	OMIM:209900
HP:0000035	Abnormal testis morphology	79140	CCDC28B	OMIM:209900
HP:0000035	Abnormal testis morphology	582	BBS1	OMIM:209900
HP:0000035	Abnormal testis morphology	79184	BRCC3	ORPHA:280679
HP:0000035	Abnormal testis morphology	284654	RSPO1	OMIM:610644
HP:0000035	Abnormal testis morphology	9820	CUL7	OMIM:273750
HP:0000035	Abnormal testis morphology	23116	TOGARAM1	OMIM:619185
HP:0000035	Abnormal testis morphology	55630	SLC39A4	OMIM:201100
HP:0000035	Abnormal testis morphology	23312	DMXL2	OMIM:616113
HP:0000035	Abnormal testis morphology	23312	DMXL2	ORPHA:453533
HP:0000035	Abnormal testis morphology	56154	TEX15	OMIM:617960
HP:0000035	Abnormal testis morphology	56154	TEX15	ORPHA:399805
HP:0000035	Abnormal testis morphology	6885	MAP3K7	OMIM:157800
HP:0000035	Abnormal testis morphology	9723	SEMA3E	OMIM:146110
HP:0000035	Abnormal testis morphology	558	AXL	OMIM:146110
HP:0000035	Abnormal testis morphology	10011	SRA1	OMIM:146110
HP:0000035	Abnormal testis morphology	285025	CCDC141	OMIM:146110
HP:0000035	Abnormal testis morphology	285025	CCDC141	ORPHA:478
HP:0000035	Abnormal testis morphology	389549	FEZF1	OMIM:146110
HP:0000035	Abnormal testis morphology	389549	FEZF1	OMIM:616030
HP:0000035	Abnormal testis morphology	389549	FEZF1	ORPHA:478
HP:0000035	Abnormal testis morphology	128637	TBC1D20	OMIM:615663
HP:0000035	Abnormal testis morphology	3953	LEPR	ORPHA:179494
HP:0000035	Abnormal testis morphology	57187	THOC2	ORPHA:457240
HP:0000035	Abnormal testis morphology	340719	NANOS1	ORPHA:399808
HP:0000035	Abnormal testis morphology	340719	NANOS1	ORPHA:399805
HP:0000035	Abnormal testis morphology	54809	SAMD9	OMIM:617053
HP:0000035	Abnormal testis morphology	7737	RNF113A	OMIM:300953
HP:0000035	Abnormal testis morphology	22931	RAB18	OMIM:614222
HP:0000035	Abnormal testis morphology	80067	DCAF17	ORPHA:3464
HP:0000035	Abnormal testis morphology	80067	DCAF17	OMIM:241080
HP:0000035	Abnormal testis morphology	5626	PROP1	ORPHA:95494
HP:0000035	Abnormal testis morphology	5626	PROP1	ORPHA:90695
HP:0000035	Abnormal testis morphology	2736	GLI2	ORPHA:95494
HP:0000035	Abnormal testis morphology	89884	LHX4	ORPHA:95494
HP:0000035	Abnormal testis morphology	3170	FOXA2	ORPHA:95494
HP:0000035	Abnormal testis morphology	5449	POU1F1	ORPHA:95494
HP:0000035	Abnormal testis morphology	8820	HESX1	ORPHA:95494
HP:0000035	Abnormal testis morphology	8820	HESX1	ORPHA:478
HP:0000035	Abnormal testis morphology	5015	OTX2	ORPHA:95494
HP:0000035	Abnormal testis morphology	11041	B4GAT1	OMIM:615287
HP:0000035	Abnormal testis morphology	26227	PHGDH	OMIM:601815
HP:0000035	Abnormal testis morphology	154197	PNLDC1	OMIM:619528
HP:0000035	Abnormal testis morphology	154197	PNLDC1	ORPHA:399805
HP:0000035	Abnormal testis morphology	57704	GBA2	ORPHA:320391
HP:0000035	Abnormal testis morphology	6875	TAF4B	ORPHA:399805
HP:0000035	Abnormal testis morphology	56155	TEX14	ORPHA:399805
HP:0000035	Abnormal testis morphology	254528	MEIOB	ORPHA:399805
HP:0000035	Abnormal testis morphology	91057	CCDC34	ORPHA:399805
HP:0000035	Abnormal testis morphology	402381	SOHLH1	ORPHA:399805
HP:0000035	Abnormal testis morphology	317719	KLHL10	ORPHA:399805
HP:0000035	Abnormal testis morphology	56159	TEX11	ORPHA:399805
HP:0000035	Abnormal testis morphology	1080	CFTR	ORPHA:399805
HP:0000035	Abnormal testis morphology	84225	ZMYND15	ORPHA:399805
HP:0000035	Abnormal testis morphology	122402	TDRD9	ORPHA:399805
HP:0000035	Abnormal testis morphology	93426	SYCE1	ORPHA:399805
HP:0000035	Abnormal testis morphology	50511	SYCP3	ORPHA:399805
HP:0000035	Abnormal testis morphology	5373	PMM2	ORPHA:79318
HP:0000035	Abnormal testis morphology	8242	KDM5C	OMIM:300534
HP:0000035	Abnormal testis morphology	8242	KDM5C	ORPHA:85279
HP:0000035	Abnormal testis morphology	2332	FMR1	ORPHA:261483
HP:0000035	Abnormal testis morphology	51360	MBTPS2	ORPHA:85284
HP:0000035	Abnormal testis morphology	546	ATRX	OMIM:309580
HP:0000035	Abnormal testis morphology	23133	PHF8	ORPHA:85287
HP:0000035	Abnormal testis morphology	3339	HSPG2	OMIM:255800
HP:0000035	Abnormal testis morphology	3339	HSPG2	ORPHA:800
HP:0000035	Abnormal testis morphology	84295	PHF6	ORPHA:127
HP:0000035	Abnormal testis morphology	3730	ANOS1	OMIM:308700
HP:0000035	Abnormal testis morphology	3730	ANOS1	ORPHA:478
HP:0000035	Abnormal testis morphology	55315	SLC29A3	ORPHA:168569
HP:0000035	Abnormal testis morphology	10371	SEMA3A	OMIM:614897
HP:0000035	Abnormal testis morphology	10371	SEMA3A	ORPHA:478
HP:0000035	Abnormal testis morphology	63901	FAM111A	ORPHA:93325
HP:0000035	Abnormal testis morphology	23767	FLRT3	ORPHA:478
HP:0000035	Abnormal testis morphology	79625	NDNF	ORPHA:478
HP:0000035	Abnormal testis morphology	1630	DCC	ORPHA:478
HP:0000035	Abnormal testis morphology	54756	IL17RD	ORPHA:478
HP:0000035	Abnormal testis morphology	6663	SOX10	ORPHA:478
HP:0000035	Abnormal testis morphology	2068	ERCC2	ORPHA:910
HP:0000035	Abnormal testis morphology	7507	XPA	ORPHA:910
HP:0000035	Abnormal testis morphology	2071	ERCC3	ORPHA:910
HP:0000035	Abnormal testis morphology	7508	XPC	ORPHA:910
HP:0000035	Abnormal testis morphology	1643	DDB2	ORPHA:910
HP:0000035	Abnormal testis morphology	2073	ERCC5	ORPHA:910
HP:0000035	Abnormal testis morphology	7486	WRN	ORPHA:902
HP:0000035	Abnormal testis morphology	57647	DHX37	ORPHA:983
HP:0000035	Abnormal testis morphology	672	BRCA1	ORPHA:84
HP:0000035	Abnormal testis morphology	10459	MAD2L2	ORPHA:84
HP:0000035	Abnormal testis morphology	7516	XRCC2	ORPHA:84
HP:0000035	Abnormal testis morphology	29089	UBE2T	ORPHA:84
HP:0000035	Abnormal testis morphology	675	BRCA2	ORPHA:84
HP:0000035	Abnormal testis morphology	55120	FANCL	ORPHA:84
HP:0000035	Abnormal testis morphology	2177	FANCD2	ORPHA:84
HP:0000035	Abnormal testis morphology	2175	FANCA	ORPHA:84
HP:0000035	Abnormal testis morphology	2187	FANCB	ORPHA:84
HP:0000035	Abnormal testis morphology	2176	FANCC	ORPHA:84
HP:0000035	Abnormal testis morphology	2178	FANCE	ORPHA:84
HP:0000035	Abnormal testis morphology	2188	FANCF	ORPHA:84
HP:0000035	Abnormal testis morphology	2189	FANCG	ORPHA:84
HP:0000035	Abnormal testis morphology	5888	RAD51	ORPHA:84
HP:0000035	Abnormal testis morphology	5889	RAD51C	ORPHA:84
HP:0000035	Abnormal testis morphology	55159	RFWD3	ORPHA:84
HP:0000035	Abnormal testis morphology	83990	BRIP1	ORPHA:84
HP:0000035	Abnormal testis morphology	57697	FANCM	ORPHA:84
HP:0000035	Abnormal testis morphology	79728	PALB2	ORPHA:84
HP:0000035	Abnormal testis morphology	84464	SLX4	ORPHA:84
HP:0000035	Abnormal testis morphology	2072	ERCC4	ORPHA:84
HP:0000035	Abnormal testis morphology	55215	FANCI	ORPHA:84
HP:0000035	Abnormal testis morphology	392255	GDF6	OMIM:613094
HP:0000035	Abnormal testis morphology	26123	TCTN3	ORPHA:2753
HP:0000035	Abnormal testis morphology	79577	CDC73	ORPHA:143
HP:0000035	Abnormal testis morphology	79577	CDC73	ORPHA:99880
HP:0000035	Abnormal testis morphology	284058	KANSL1	ORPHA:363965
HP:0000035	Abnormal testis morphology	284058	KANSL1	ORPHA:363958
HP:0000035	Abnormal testis morphology	2130	EWSR1	ORPHA:83469
HP:0000035	Abnormal testis morphology	7490	WT1	ORPHA:83469
HP:0000035	Abnormal testis morphology	5566	PRKACA	ORPHA:189439
HP:0000035	Abnormal testis morphology	8622	PDE8B	ORPHA:189439
HP:0000035	Abnormal testis morphology	5573	PRKAR1A	ORPHA:189439
HP:0000035	Abnormal testis morphology	5573	PRKAR1A	ORPHA:1359
HP:0000035	Abnormal testis morphology	50940	PDE11A	ORPHA:189439
HP:0000035	Abnormal testis morphology	50940	PDE11A	ORPHA:1359
HP:0000035	Abnormal testis morphology	412	STS	OMIM:308100
HP:0000035	Abnormal testis morphology	367	AR	ORPHA:99429
HP:0000035	Abnormal testis morphology	1027	CDKN1B	ORPHA:276152
HP:0000035	Abnormal testis morphology	5728	PTEN	ORPHA:744
HP:0000035	Abnormal testis morphology	207	AKT1	ORPHA:744
HP:0000035	Abnormal testis morphology	7157	TP53	ORPHA:524
HP:0000035	Abnormal testis morphology	1029	CDKN2A	ORPHA:524
HP:0000035	Abnormal testis morphology	4193	MDM2	ORPHA:524
HP:0000035	Abnormal testis morphology	11200	CHEK2	ORPHA:524
HP:0000035	Abnormal testis morphology	1583	CYP11A1	ORPHA:289548
HP:0000035	Abnormal testis morphology	1583	CYP11A1	ORPHA:168558
HP:0000035	Abnormal testis morphology	6611	SMS	ORPHA:3063
HP:0000035	Abnormal testis morphology	3972	LHB	OMIM:228300
HP:0000035	Abnormal testis morphology	7840	ALMS1	ORPHA:64
HP:0000035	Abnormal testis morphology	2778	GNAS	ORPHA:562
HP:0000035	Abnormal testis morphology	2488	FSHB	ORPHA:52901
HP:0000035	Abnormal testis morphology	10568	SLC34A2	ORPHA:60025
HP:0000035	Abnormal testis morphology	2516	NR5A1	OMIM:617480
HP:0000035	Abnormal testis morphology	51574	LARP7	OMIM:615071
HP:0000035	Abnormal testis morphology	6904	TBCD	OMIM:617193
HP:0000035	Abnormal testis morphology	5422	POLA1	ORPHA:163976
HP:0000035	Abnormal testis morphology	64132	XYLT2	OMIM:605822
HP:0000035	Abnormal testis morphology	745	MYRF	OMIM:618280
HP:0000035	Abnormal testis morphology	4784	NFIX	ORPHA:447980
HP:0000035	Abnormal testis morphology	104	ADARB1	OMIM:618862
HP:0000035	Abnormal testis morphology	90121	TSR2	OMIM:300946
HP:0000035	Abnormal testis morphology	4781	NFIB	OMIM:618286
HP:0000035	Abnormal testis morphology	51111	KMT5B	OMIM:617788
HP:0000035	Abnormal testis morphology	3481	IGF2	OMIM:616489
HP:0000035	Abnormal testis morphology	83479	DDX59	OMIM:174300
HP:0000035	Abnormal testis morphology	6736	SRY	ORPHA:1772
HP:0000035	Abnormal testis morphology	84282	RNF135	ORPHA:137634
HP:0000035	Abnormal testis morphology	64093	SMOC1	OMIM:206920
HP:0000035	Abnormal testis morphology	25942	SIN3A	OMIM:613406
HP:0000035	Abnormal testis morphology	3640	INSL3	OMIM:219050
HP:0000035	Abnormal testis morphology	6662	SOX9	ORPHA:251510
HP:0000035	Abnormal testis morphology	6845	VAMP7	ORPHA:251510
HP:0000035	Abnormal testis morphology	51741	WWOX	ORPHA:251510
HP:0000035	Abnormal testis morphology	4214	MAP3K1	ORPHA:251510
HP:0000035	Abnormal testis morphology	58524	DMRT3	ORPHA:251510
HP:0000035	Abnormal testis morphology	23414	ZFPM2	ORPHA:251510
HP:0000035	Abnormal testis morphology	190	NR0B1	ORPHA:251510
HP:0000035	Abnormal testis morphology	2626	GATA4	ORPHA:251510
HP:0000035	Abnormal testis morphology	56246	MRAP	ORPHA:361
HP:0000035	Abnormal testis morphology	6770	STAR	ORPHA:361
HP:0000035	Abnormal testis morphology	4158	MC2R	ORPHA:361
HP:0000035	Abnormal testis morphology	23530	NNT	ORPHA:361
HP:0000035	Abnormal testis morphology	10587	TXNRD2	ORPHA:361
HP:0000035	Abnormal testis morphology	125150	ZSWIM7	OMIM:619831
HP:0000035	Abnormal testis morphology	9817	KEAP1	ORPHA:276399
HP:0000035	Abnormal testis morphology	23405	DICER1	ORPHA:276399
HP:0000035	Abnormal testis morphology	4210	MEFV	ORPHA:342
HP:0000035	Abnormal testis morphology	4210	MEFV	OMIM:249100
HP:0000035	Abnormal testis morphology	4210	MEFV	ORPHA:117
HP:0000035	Abnormal testis morphology	7132	TNFRSF1A	ORPHA:32960
HP:0000035	Abnormal testis morphology	149233	IL23R	ORPHA:117
HP:0000035	Abnormal testis morphology	6775	STAT4	ORPHA:117
HP:0000035	Abnormal testis morphology	3586	IL10	ORPHA:117
HP:0000035	Abnormal testis morphology	1230	CCR1	ORPHA:117
HP:0000035	Abnormal testis morphology	355	FAS	ORPHA:117
HP:0000035	Abnormal testis morphology	3592	IL12A	ORPHA:117
HP:0000035	Abnormal testis morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000035	Abnormal testis morphology	3106	HLA-B	ORPHA:117
HP:0000035	Abnormal testis morphology	7099	TLR4	ORPHA:117
HP:0000035	Abnormal testis morphology	3459	IFNGR1	ORPHA:117
HP:0000035	Abnormal testis morphology	720	C4A	ORPHA:117
HP:0000035	Abnormal testis morphology	337867	UBAC2	ORPHA:117
HP:0000035	Abnormal testis morphology	51752	ERAP1	ORPHA:117
HP:0000035	Abnormal testis morphology	8302	KLRC4	ORPHA:117
HP:0000035	Abnormal testis morphology	11285	B4GALT7	ORPHA:75496
HP:0000036	Abnormal penis morphology	10483	SEC23B	ORPHA:201
HP:0000036	Abnormal penis morphology	6390	SDHB	ORPHA:201
HP:0000036	Abnormal penis morphology	6392	SDHD	ORPHA:201
HP:0000036	Abnormal penis morphology	6391	SDHC	ORPHA:201
HP:0000036	Abnormal penis morphology	205717	USF3	ORPHA:201
HP:0000036	Abnormal penis morphology	5290	PIK3CA	ORPHA:201
HP:0000036	Abnormal penis morphology	100144748	KLLN	ORPHA:201
HP:0000036	Abnormal penis morphology	1857	DVL3	ORPHA:3107
HP:0000036	Abnormal penis morphology	7474	WNT5A	ORPHA:3107
HP:0000036	Abnormal penis morphology	1855	DVL1	ORPHA:3107
HP:0000036	Abnormal penis morphology	2535	FZD2	ORPHA:3107
HP:0000036	Abnormal penis morphology	3845	KRAS	ORPHA:3339
HP:0000036	Abnormal penis morphology	54361	WNT4	ORPHA:139466
HP:0000036	Abnormal penis morphology	63895	PIEZO2	ORPHA:2461
HP:0000036	Abnormal penis morphology	4089	SMAD4	ORPHA:2588
HP:0000036	Abnormal penis morphology	5566	PRKACA	ORPHA:289
HP:0000036	Abnormal penis morphology	5567	PRKACB	ORPHA:289
HP:0000036	Abnormal penis morphology	2735	GLI1	ORPHA:289
HP:0000036	Abnormal penis morphology	2121	EVC	ORPHA:289
HP:0000036	Abnormal penis morphology	2121	EVC	OMIM:225500
HP:0000036	Abnormal penis morphology	51626	DYNC2LI1	ORPHA:289
HP:0000036	Abnormal penis morphology	132884	EVC2	ORPHA:289
HP:0000036	Abnormal penis morphology	132884	EVC2	OMIM:225500
HP:0000036	Abnormal penis morphology	29123	ANKRD11	OMIM:148050
HP:0000036	Abnormal penis morphology	26005	C2CD3	ORPHA:434179
HP:0000036	Abnormal penis morphology	26005	C2CD3	OMIM:615948
HP:0000036	Abnormal penis morphology	157570	ESCO2	OMIM:268300
HP:0000036	Abnormal penis morphology	157570	ESCO2	ORPHA:3103
HP:0000036	Abnormal penis morphology	3643	INSR	OMIM:262190
HP:0000036	Abnormal penis morphology	3643	INSR	OMIM:246200
HP:0000036	Abnormal penis morphology	3643	INSR	ORPHA:508
HP:0000036	Abnormal penis morphology	3643	INSR	ORPHA:769
HP:0000036	Abnormal penis morphology	1584	CYP11B1	OMIM:202010
HP:0000036	Abnormal penis morphology	1584	CYP11B1	ORPHA:90795
HP:0000036	Abnormal penis morphology	3756	KCNH1	OMIM:135500
HP:0000036	Abnormal penis morphology	2260	FGFR1	OMIM:190440
HP:0000036	Abnormal penis morphology	3973	LHCGR	ORPHA:3000
HP:0000036	Abnormal penis morphology	11128	POLR3A	OMIM:264090
HP:0000036	Abnormal penis morphology	83550	GPR101	ORPHA:963
HP:0000036	Abnormal penis morphology	9049	AIP	ORPHA:963
HP:0000036	Abnormal penis morphology	5728	PTEN	ORPHA:744
HP:0000036	Abnormal penis morphology	207	AKT1	ORPHA:744
HP:0000036	Abnormal penis morphology	9839	ZEB2	ORPHA:261537
HP:0000036	Abnormal penis morphology	9839	ZEB2	ORPHA:261552
HP:0000036	Abnormal penis morphology	9791	PTDSS1	OMIM:151050
HP:0000036	Abnormal penis morphology	5447	POR	OMIM:201750
HP:0000036	Abnormal penis morphology	374879	ZNF699	OMIM:619488
HP:0000036	Abnormal penis morphology	23028	KDM1A	ORPHA:477993
HP:0000036	Abnormal penis morphology	23028	KDM1A	OMIM:616728
HP:0000036	Abnormal penis morphology	7750	ZMYM2	OMIM:619522
HP:0000036	Abnormal penis morphology	9578	CDC42BPB	OMIM:619841
HP:0000036	Abnormal penis morphology	1349	COX7B	OMIM:309801
HP:0000036	Abnormal penis morphology	3052	HCCS	OMIM:309801
HP:0000036	Abnormal penis morphology	54539	NDUFB11	OMIM:309801
HP:0000036	Abnormal penis morphology	1859	DYRK1A	ORPHA:268261
HP:0000036	Abnormal penis morphology	833	CARS1	OMIM:618891
HP:0000036	Abnormal penis morphology	4214	MAP3K1	OMIM:613762
HP:0000036	Abnormal penis morphology	6736	SRY	ORPHA:1772
HP:0000036	Abnormal penis morphology	4659	PPP1R12A	OMIM:618820
HP:0000036	Abnormal penis morphology	3209	HOXA13	OMIM:140000
HP:0000036	Abnormal penis morphology	26235	FBXL4	OMIM:615471
HP:0000036	Abnormal penis morphology	1947	EFNB1	ORPHA:1520
HP:0000036	Abnormal penis morphology	1947	EFNB1	OMIM:304110
HP:0000036	Abnormal penis morphology	4204	MECP2	ORPHA:1762
HP:0000036	Abnormal penis morphology	4204	MECP2	OMIM:300260
HP:0000036	Abnormal penis morphology	9820	CUL7	ORPHA:2616
HP:0000036	Abnormal penis morphology	9820	CUL7	OMIM:273750
HP:0000036	Abnormal penis morphology	23363	OBSL1	ORPHA:2616
HP:0000036	Abnormal penis morphology	83987	CCDC8	ORPHA:2616
HP:0000036	Abnormal penis morphology	79848	CSPP1	ORPHA:397715
HP:0000036	Abnormal penis morphology	267010	RNU12	OMIM:603116
HP:0000036	Abnormal penis morphology	5932	RBBP8	OMIM:606744
HP:0000036	Abnormal penis morphology	116931	MED12L	OMIM:618872
HP:0000036	Abnormal penis morphology	8239	USP9X	OMIM:300919
HP:0000036	Abnormal penis morphology	5189	PEX1	OMIM:214100
HP:0000036	Abnormal penis morphology	5189	PEX1	ORPHA:912
HP:0000036	Abnormal penis morphology	284058	KANSL1	ORPHA:363958
HP:0000036	Abnormal penis morphology	284058	KANSL1	ORPHA:363965
HP:0000036	Abnormal penis morphology	4853	NOTCH2	OMIM:102500
HP:0000036	Abnormal penis morphology	4853	NOTCH2	ORPHA:955
HP:0000036	Abnormal penis morphology	7020	TFAP2A	OMIM:113620
HP:0000036	Abnormal penis morphology	1281	COL3A1	ORPHA:286
HP:0000036	Abnormal penis morphology	10815	CPLX1	ORPHA:280
HP:0000036	Abnormal penis morphology	10815	CPLX1	OMIM:194190
HP:0000036	Abnormal penis morphology	54872	PIGG	ORPHA:280
HP:0000036	Abnormal penis morphology	7469	NELFA	ORPHA:280
HP:0000036	Abnormal penis morphology	1487	CTBP1	ORPHA:280
HP:0000036	Abnormal penis morphology	1487	CTBP1	OMIM:194190
HP:0000036	Abnormal penis morphology	3954	LETM1	ORPHA:280
HP:0000036	Abnormal penis morphology	3954	LETM1	OMIM:194190
HP:0000036	Abnormal penis morphology	7468	NSD2	ORPHA:280
HP:0000036	Abnormal penis morphology	7468	NSD2	OMIM:194190
HP:0000036	Abnormal penis morphology	54968	TMEM70	OMIM:614052
HP:0000036	Abnormal penis morphology	54968	TMEM70	ORPHA:1194
HP:0000036	Abnormal penis morphology	57178	ZMIZ1	OMIM:618659
HP:0000036	Abnormal penis morphology	8642	DCHS1	OMIM:601390
HP:0000036	Abnormal penis morphology	8642	DCHS1	ORPHA:314679
HP:0000036	Abnormal penis morphology	54888	NSUN2	ORPHA:235
HP:0000036	Abnormal penis morphology	8260	NAA10	OMIM:309800
HP:0000036	Abnormal penis morphology	8260	NAA10	ORPHA:568
HP:0000036	Abnormal penis morphology	54880	BCOR	OMIM:309800
HP:0000036	Abnormal penis morphology	54880	BCOR	ORPHA:568
HP:0000036	Abnormal penis morphology	54880	BCOR	OMIM:300166
HP:0000036	Abnormal penis morphology	54914	FOCAD	OMIM:619991
HP:0000036	Abnormal penis morphology	8363	H4C11	OMIM:619759
HP:0000036	Abnormal penis morphology	6134	RPL10	ORPHA:459070
HP:0000036	Abnormal penis morphology	6134	RPL10	OMIM:300998
HP:0000036	Abnormal penis morphology	6134	RPL10	ORPHA:435938
HP:0000036	Abnormal penis morphology	9772	TMEM94	OMIM:618316
HP:0000036	Abnormal penis morphology	9725	TMEM63A	OMIM:618688
HP:0000036	Abnormal penis morphology	6135	RPL11	ORPHA:124
HP:0000036	Abnormal penis morphology	6138	RPL15	ORPHA:124
HP:0000036	Abnormal penis morphology	6229	RPS24	ORPHA:124
HP:0000036	Abnormal penis morphology	6125	RPL5	ORPHA:124
HP:0000036	Abnormal penis morphology	6204	RPS10	ORPHA:124
HP:0000036	Abnormal penis morphology	6224	RPS20	ORPHA:124
HP:0000036	Abnormal penis morphology	6165	RPL35A	ORPHA:124
HP:0000036	Abnormal penis morphology	6165	RPL35A	OMIM:612528
HP:0000036	Abnormal penis morphology	2623	GATA1	ORPHA:124
HP:0000036	Abnormal penis morphology	6223	RPS19	ORPHA:124
HP:0000036	Abnormal penis morphology	6232	RPS27	ORPHA:124
HP:0000036	Abnormal penis morphology	6231	RPS26	ORPHA:124
HP:0000036	Abnormal penis morphology	11224	RPL35	ORPHA:124
HP:0000036	Abnormal penis morphology	6160	RPL31	ORPHA:124
HP:0000036	Abnormal penis morphology	6218	RPS17	ORPHA:124
HP:0000036	Abnormal penis morphology	6201	RPS7	ORPHA:124
HP:0000036	Abnormal penis morphology	6155	RPL27	ORPHA:124
HP:0000036	Abnormal penis morphology	6154	RPL26	ORPHA:124
HP:0000036	Abnormal penis morphology	6210	RPS15A	ORPHA:124
HP:0000036	Abnormal penis morphology	90121	TSR2	ORPHA:124
HP:0000036	Abnormal penis morphology	6141	RPL18	ORPHA:124
HP:0000036	Abnormal penis morphology	6235	RPS29	ORPHA:124
HP:0000036	Abnormal penis morphology	6234	RPS28	ORPHA:124
HP:0000036	Abnormal penis morphology	51816	ADA2	ORPHA:124
HP:0000036	Abnormal penis morphology	1523	CUX1	OMIM:618330
HP:0000036	Abnormal penis morphology	22827	PUF60	ORPHA:508498
HP:0000036	Abnormal penis morphology	6477	SIAH1	OMIM:619314
HP:0000036	Abnormal penis morphology	8473	OGT	OMIM:300997
HP:0000036	Abnormal penis morphology	10765	KDM5B	OMIM:618109
HP:0000036	Abnormal penis morphology	5308	PITX2	ORPHA:782
HP:0000036	Abnormal penis morphology	5308	PITX2	OMIM:180500
HP:0000036	Abnormal penis morphology	2296	FOXC1	ORPHA:782
HP:0000036	Abnormal penis morphology	27125	AFF4	ORPHA:444077
HP:0000036	Abnormal penis morphology	1387	CREBBP	ORPHA:353281
HP:0000036	Abnormal penis morphology	1387	CREBBP	OMIM:180849
HP:0000036	Abnormal penis morphology	1387	CREBBP	ORPHA:353277
HP:0000036	Abnormal penis morphology	29998	BICRA	OMIM:619325
HP:0000036	Abnormal penis morphology	2033	EP300	ORPHA:353284
HP:0000036	Abnormal penis morphology	2033	EP300	OMIM:180849
HP:0000036	Abnormal penis morphology	26128	KIFBP	ORPHA:66629
HP:0000036	Abnormal penis morphology	3039	HBA1	ORPHA:98791
HP:0000036	Abnormal penis morphology	3040	HBA2	ORPHA:98791
HP:0000036	Abnormal penis morphology	6928	HNF1B	OMIM:137920
HP:0000036	Abnormal penis morphology	6928	HNF1B	ORPHA:93111
HP:0000036	Abnormal penis morphology	284654	RSPO1	OMIM:610644
HP:0000036	Abnormal penis morphology	1312	COMT	ORPHA:567
HP:0000036	Abnormal penis morphology	221037	JMJD1C	ORPHA:567
HP:0000036	Abnormal penis morphology	2812	GP1BB	ORPHA:567
HP:0000036	Abnormal penis morphology	6239	RREB1	ORPHA:567
HP:0000036	Abnormal penis morphology	7290	HIRA	ORPHA:567
HP:0000036	Abnormal penis morphology	9632	SEC24C	ORPHA:567
HP:0000036	Abnormal penis morphology	7353	UFD1	ORPHA:567
HP:0000036	Abnormal penis morphology	421	ARVCF	ORPHA:567
HP:0000036	Abnormal penis morphology	10524	KAT5	OMIM:619103
HP:0000036	Abnormal penis morphology	8802	SUCLG1	ORPHA:17
HP:0000036	Abnormal penis morphology	4700	NDUFA6	OMIM:618253
HP:0000036	Abnormal penis morphology	5144	PDE4D	ORPHA:439822
HP:0000036	Abnormal penis morphology	5144	PDE4D	OMIM:614613
HP:0000036	Abnormal penis morphology	5144	PDE4D	ORPHA:280651
HP:0000036	Abnormal penis morphology	2475	MTOR	ORPHA:457485
HP:0000036	Abnormal penis morphology	6611	SMS	ORPHA:3063
HP:0000036	Abnormal penis morphology	145173	B3GLCT	OMIM:261540
HP:0000036	Abnormal penis morphology	145173	B3GLCT	ORPHA:709
HP:0000036	Abnormal penis morphology	673	BRAF	ORPHA:500
HP:0000036	Abnormal penis morphology	673	BRAF	OMIM:163950
HP:0000036	Abnormal penis morphology	5894	RAF1	ORPHA:500
HP:0000036	Abnormal penis morphology	2887	GRB10	ORPHA:96182
HP:0000036	Abnormal penis morphology	51360	MBTPS2	OMIM:308205
HP:0000036	Abnormal penis morphology	2222	FDFT1	OMIM:618156
HP:0000036	Abnormal penis morphology	22995	CEP152	OMIM:613823
HP:0000036	Abnormal penis morphology	6748	SSR4	OMIM:300934
HP:0000036	Abnormal penis morphology	219844	HYLS1	OMIM:236680
HP:0000036	Abnormal penis morphology	55181	SMG8	OMIM:619268
HP:0000036	Abnormal penis morphology	3735	KARS1	OMIM:619147
HP:0000036	Abnormal penis morphology	4713	NDUFB7	OMIM:620135
HP:0000036	Abnormal penis morphology	4702	NDUFA8	OMIM:619272
HP:0000036	Abnormal penis morphology	10128	LRPPRC	OMIM:220111
HP:0000036	Abnormal penis morphology	2294	FOXF1	OMIM:265380
HP:0000036	Abnormal penis morphology	6770	STAR	OMIM:201710
HP:0000036	Abnormal penis morphology	23556	PIGN	ORPHA:2059
HP:0000036	Abnormal penis morphology	9382	COG1	OMIM:611209
HP:0000036	Abnormal penis morphology	6595	SMARCA2	OMIM:619293
HP:0000036	Abnormal penis morphology	57492	ARID1B	OMIM:135900
HP:0000036	Abnormal penis morphology	57492	ARID1B	ORPHA:1465
HP:0000036	Abnormal penis morphology	1136	CHRNA3	OMIM:191800
HP:0000036	Abnormal penis morphology	7080	NKX2-1	ORPHA:209905
HP:0000036	Abnormal penis morphology	222663	SCUBE3	OMIM:619184
HP:0000036	Abnormal penis morphology	83879	CDCA7	OMIM:616910
HP:0000036	Abnormal penis morphology	53834	FGFRL1	OMIM:194190
HP:0000036	Abnormal penis morphology	5828	PEX2	OMIM:614866
HP:0000036	Abnormal penis morphology	5828	PEX2	ORPHA:912
HP:0000036	Abnormal penis morphology	57459	GATAD2B	ORPHA:363686
HP:0000036	Abnormal penis morphology	78989	COLEC11	OMIM:265050
HP:0000036	Abnormal penis morphology	9652	SKIC3	OMIM:222470
HP:0000036	Abnormal penis morphology	5631	PRPS1	OMIM:300661
HP:0000036	Abnormal penis morphology	55670	PEX26	ORPHA:912
HP:0000036	Abnormal penis morphology	5824	PEX19	ORPHA:912
HP:0000036	Abnormal penis morphology	8504	PEX3	ORPHA:912
HP:0000036	Abnormal penis morphology	8799	PEX11B	ORPHA:912
HP:0000036	Abnormal penis morphology	9409	PEX16	ORPHA:912
HP:0000036	Abnormal penis morphology	5190	PEX6	ORPHA:912
HP:0000036	Abnormal penis morphology	5830	PEX5	ORPHA:912
HP:0000036	Abnormal penis morphology	5193	PEX12	ORPHA:912
HP:0000036	Abnormal penis morphology	5194	PEX13	ORPHA:912
HP:0000036	Abnormal penis morphology	5195	PEX14	ORPHA:912
HP:0000036	Abnormal penis morphology	5192	PEX10	ORPHA:912
HP:0000036	Abnormal penis morphology	10159	ATP6AP2	OMIM:301045
HP:0000036	Abnormal penis morphology	10586	MAB21L2	OMIM:615877
HP:0000036	Abnormal penis morphology	55209	SETD5	OMIM:615761
HP:0000036	Abnormal penis morphology	998	CDC42	OMIM:616737
HP:0000036	Abnormal penis morphology	998	CDC42	ORPHA:487796
HP:0000036	Abnormal penis morphology	10982	MAPRE2	OMIM:616734
HP:0000036	Abnormal penis morphology	10982	MAPRE2	ORPHA:2505
HP:0000036	Abnormal penis morphology	8831	SYNGAP1	ORPHA:544254
HP:0000036	Abnormal penis morphology	6597	SMARCA4	ORPHA:1465
HP:0000036	Abnormal penis morphology	6598	SMARCB1	ORPHA:1465
HP:0000036	Abnormal penis morphology	6659	SOX4	ORPHA:1465
HP:0000036	Abnormal penis morphology	8289	ARID1A	ORPHA:1465
HP:0000036	Abnormal penis morphology	5977	DPF2	ORPHA:1465
HP:0000036	Abnormal penis morphology	6601	SMARCC2	ORPHA:1465
HP:0000036	Abnormal penis morphology	6602	SMARCD1	ORPHA:1465
HP:0000036	Abnormal penis morphology	196528	ARID2	ORPHA:1465
HP:0000036	Abnormal penis morphology	6605	SMARCE1	ORPHA:1465
HP:0000036	Abnormal penis morphology	6664	SOX11	ORPHA:1465
HP:0000036	Abnormal penis morphology	134701	RIPPLY2	ORPHA:2311
HP:0000036	Abnormal penis morphology	10683	DLL3	ORPHA:2311
HP:0000036	Abnormal penis morphology	3955	LFNG	ORPHA:2311
HP:0000036	Abnormal penis morphology	84667	HES7	ORPHA:2311
HP:0000036	Abnormal penis morphology	145873	MESP2	ORPHA:2311
HP:0000036	Abnormal penis morphology	25	ABL1	OMIM:617602
HP:0000036	Abnormal penis morphology	545	ATR	OMIM:210600
HP:0000036	Abnormal penis morphology	5116	PCNT	OMIM:210720
HP:0000036	Abnormal penis morphology	5723	PSPH	ORPHA:79350
HP:0000036	Abnormal penis morphology	1589	CYP21A2	OMIM:201910
HP:0000036	Abnormal penis morphology	4796	TONSL	ORPHA:93357
HP:0000036	Abnormal penis morphology	5879	RAC1	OMIM:617751
HP:0000036	Abnormal penis morphology	5879	RAC1	ORPHA:500159
HP:0000036	Abnormal penis morphology	51780	KDM3B	OMIM:618846
HP:0000036	Abnormal penis morphology	4724	NDUFS4	OMIM:252010
HP:0000036	Abnormal penis morphology	4000	LMNA	ORPHA:1662
HP:0000036	Abnormal penis morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000036	Abnormal penis morphology	10269	ZMPSTE24	OMIM:275210
HP:0000036	Abnormal penis morphology	5573	PRKAR1A	ORPHA:280651
HP:0000036	Abnormal penis morphology	1468	SLC25A10	OMIM:618972
HP:0000036	Abnormal penis morphology	203068	TUBB	ORPHA:2505
HP:0000036	Abnormal penis morphology	5604	MAP2K1	OMIM:163950
HP:0000036	Abnormal penis morphology	8294	H4C9	OMIM:619951
HP:0000036	Abnormal penis morphology	4534	MTM1	ORPHA:456328
HP:0000036	Abnormal penis morphology	4750	NEK1	OMIM:263520
HP:0000036	Abnormal penis morphology	201595	STT3B	OMIM:615597
HP:0000036	Abnormal penis morphology	201595	STT3B	ORPHA:370924
HP:0000036	Abnormal penis morphology	6938	TCF12	OMIM:619718
HP:0000036	Abnormal penis morphology	91801	ALKBH8	OMIM:618504
HP:0000036	Abnormal penis morphology	4281	MID1	OMIM:300000
HP:0000036	Abnormal penis morphology	374654	KIF7	OMIM:200990
HP:0000036	Abnormal penis morphology	58	ACTA1	ORPHA:171430
HP:0000036	Abnormal penis morphology	4703	NEB	ORPHA:171430
HP:0000036	Abnormal penis morphology	131377	KLHL40	ORPHA:171430
HP:0000036	Abnormal penis morphology	10324	KLHL41	ORPHA:171430
HP:0000036	Abnormal penis morphology	56203	LMOD3	ORPHA:171430
HP:0000036	Abnormal penis morphology	1723	DHODH	OMIM:263750
HP:0000036	Abnormal penis morphology	1528	CYB5A	ORPHA:90796
HP:0000036	Abnormal penis morphology	1528	CYB5A	OMIM:250790
HP:0000036	Abnormal penis morphology	1586	CYP17A1	ORPHA:90796
HP:0000036	Abnormal penis morphology	1586	CYP17A1	ORPHA:90793
HP:0000036	Abnormal penis morphology	1841	DTYMK	OMIM:619847
HP:0000036	Abnormal penis morphology	4010	LMX1B	ORPHA:495818
HP:0000036	Abnormal penis morphology	6812	STXBP1	ORPHA:495818
HP:0000036	Abnormal penis morphology	56623	INPP5E	ORPHA:75858
HP:0000036	Abnormal penis morphology	56623	INPP5E	OMIM:610156
HP:0000036	Abnormal penis morphology	84634	KISS1R	OMIM:614837
HP:0000036	Abnormal penis morphology	84634	KISS1R	ORPHA:432
HP:0000036	Abnormal penis morphology	26012	NSMF	OMIM:614838
HP:0000036	Abnormal penis morphology	26012	NSMF	ORPHA:432
HP:0000036	Abnormal penis morphology	1161	ERCC8	OMIM:216400
HP:0000036	Abnormal penis morphology	9723	SEMA3E	ORPHA:138
HP:0000036	Abnormal penis morphology	9723	SEMA3E	OMIM:146110
HP:0000036	Abnormal penis morphology	3703	STT3A	ORPHA:370921
HP:0000036	Abnormal penis morphology	10584	COLEC10	OMIM:248340
HP:0000036	Abnormal penis morphology	23522	KAT6B	OMIM:606170
HP:0000036	Abnormal penis morphology	1889	ECE1	OMIM:613870
HP:0000036	Abnormal penis morphology	3952	LEP	OMIM:614962
HP:0000036	Abnormal penis morphology	2796	GNRH1	OMIM:614841
HP:0000036	Abnormal penis morphology	2796	GNRH1	OMIM:146110
HP:0000036	Abnormal penis morphology	2796	GNRH1	ORPHA:432
HP:0000036	Abnormal penis morphology	2688	GH1	OMIM:612781
HP:0000036	Abnormal penis morphology	815	CAMK2A	OMIM:617798
HP:0000036	Abnormal penis morphology	79140	CCDC28B	OMIM:209900
HP:0000036	Abnormal penis morphology	79087	ALG12	OMIM:607143
HP:0000036	Abnormal penis morphology	79087	ALG12	ORPHA:79324
HP:0000036	Abnormal penis morphology	23116	TOGARAM1	OMIM:619185
HP:0000036	Abnormal penis morphology	84823	LMNB2	OMIM:619180
HP:0000036	Abnormal penis morphology	9896	FIG4	ORPHA:3472
HP:0000036	Abnormal penis morphology	9896	FIG4	OMIM:216340
HP:0000036	Abnormal penis morphology	55697	VAC14	ORPHA:3472
HP:0000036	Abnormal penis morphology	283987	HID1	OMIM:619983
HP:0000036	Abnormal penis morphology	1656	DDX6	OMIM:618653
HP:0000036	Abnormal penis morphology	132158	GLYCTK	OMIM:220120
HP:0000036	Abnormal penis morphology	80776	B9D2	OMIM:614175
HP:0000036	Abnormal penis morphology	55148	UBR7	OMIM:619189
HP:0000036	Abnormal penis morphology	558	AXL	OMIM:146110
HP:0000036	Abnormal penis morphology	2798	GNRHR	OMIM:146110
HP:0000036	Abnormal penis morphology	2798	GNRHR	ORPHA:432
HP:0000036	Abnormal penis morphology	10011	SRA1	OMIM:146110
HP:0000036	Abnormal penis morphology	1009	CDH11	ORPHA:1299
HP:0000036	Abnormal penis morphology	1954	MEGF8	OMIM:614976
HP:0000036	Abnormal penis morphology	2783	GNB2	OMIM:619503
HP:0000036	Abnormal penis morphology	26040	SETBP1	OMIM:269150
HP:0000036	Abnormal penis morphology	26040	SETBP1	ORPHA:798
HP:0000036	Abnormal penis morphology	63901	FAM111A	OMIM:602361
HP:0000036	Abnormal penis morphology	7840	ALMS1	ORPHA:64
HP:0000036	Abnormal penis morphology	253738	EBF3	OMIM:617330
HP:0000036	Abnormal penis morphology	8879	SGPL1	OMIM:617575
HP:0000036	Abnormal penis morphology	80067	DCAF17	ORPHA:3464
HP:0000036	Abnormal penis morphology	80067	DCAF17	OMIM:241080
HP:0000036	Abnormal penis morphology	10236	HNRNPR	OMIM:620073
HP:0000036	Abnormal penis morphology	79718	TBL1XR1	OMIM:602342
HP:0000036	Abnormal penis morphology	5700	PSMC1	OMIM:620071
HP:0000036	Abnormal penis morphology	79228	THOC6	ORPHA:363444
HP:0000036	Abnormal penis morphology	3972	LHB	OMIM:228300
HP:0000036	Abnormal penis morphology	59336	PRDM13	OMIM:619761
HP:0000036	Abnormal penis morphology	5591	PRKDC	OMIM:615966
HP:0000036	Abnormal penis morphology	6925	TCF4	OMIM:610954
HP:0000036	Abnormal penis morphology	6925	TCF4	ORPHA:2896
HP:0000036	Abnormal penis morphology	3911	LAMA5	OMIM:620076
HP:0000036	Abnormal penis morphology	8242	KDM5C	OMIM:300534
HP:0000036	Abnormal penis morphology	9968	MED12	OMIM:300895
HP:0000036	Abnormal penis morphology	10661	KLF1	OMIM:613673
HP:0000036	Abnormal penis morphology	701	BUB1B	OMIM:257300
HP:0000036	Abnormal penis morphology	5781	PTPN11	OMIM:151100
HP:0000036	Abnormal penis morphology	54101	RIPK4	OMIM:263650
HP:0000036	Abnormal penis morphology	27152	INTU	OMIM:617925
HP:0000036	Abnormal penis morphology	27152	INTU	OMIM:617926
HP:0000036	Abnormal penis morphology	5426	POLE	OMIM:618336
HP:0000036	Abnormal penis morphology	7319	UBE2A	ORPHA:163956
HP:0000036	Abnormal penis morphology	7319	UBE2A	OMIM:300860
HP:0000036	Abnormal penis morphology	10535	RNASEH2A	ORPHA:51
HP:0000036	Abnormal penis morphology	84153	RNASEH2C	ORPHA:51
HP:0000036	Abnormal penis morphology	25939	SAMHD1	ORPHA:51
HP:0000036	Abnormal penis morphology	79621	RNASEH2B	ORPHA:51
HP:0000036	Abnormal penis morphology	103	ADAR	ORPHA:51
HP:0000036	Abnormal penis morphology	11277	TREX1	ORPHA:51
HP:0000036	Abnormal penis morphology	100147744	RNU7-1	ORPHA:51
HP:0000036	Abnormal penis morphology	100147744	RNU7-1	OMIM:619487
HP:0000036	Abnormal penis morphology	134353	LSM11	ORPHA:51
HP:0000036	Abnormal penis morphology	64135	IFIH1	ORPHA:51
HP:0000036	Abnormal penis morphology	6792	CDKL5	ORPHA:1934
HP:0000036	Abnormal penis morphology	3736	KCNA1	ORPHA:1934
HP:0000036	Abnormal penis morphology	9091	PIGQ	ORPHA:1934
HP:0000036	Abnormal penis morphology	2775	GNAO1	ORPHA:1934
HP:0000036	Abnormal penis morphology	81603	TRIM8	ORPHA:1934
HP:0000036	Abnormal penis morphology	2902	GRIN1	ORPHA:1934
HP:0000036	Abnormal penis morphology	79751	SLC25A22	ORPHA:1934
HP:0000036	Abnormal penis morphology	150094	SIK1	ORPHA:1934
HP:0000036	Abnormal penis morphology	8573	CASK	ORPHA:1934
HP:0000036	Abnormal penis morphology	23312	DMXL2	ORPHA:1934
HP:0000036	Abnormal penis morphology	2917	GRM7	ORPHA:1934
HP:0000036	Abnormal penis morphology	11284	PNKP	ORPHA:1934
HP:0000036	Abnormal penis morphology	6326	SCN2A	ORPHA:1934
HP:0000036	Abnormal penis morphology	51227	PIGP	ORPHA:1934
HP:0000036	Abnormal penis morphology	6324	SCN1B	ORPHA:1934
HP:0000036	Abnormal penis morphology	4761	NEUROD2	ORPHA:1934
HP:0000036	Abnormal penis morphology	10075	HUWE1	OMIM:309590
HP:0000036	Abnormal penis morphology	2737	GLI3	ORPHA:672
HP:0000036	Abnormal penis morphology	2737	GLI3	OMIM:146510
HP:0000036	Abnormal penis morphology	2074	ERCC6	OMIM:133540
HP:0000036	Abnormal penis morphology	6866	TAC3	ORPHA:432
HP:0000036	Abnormal penis morphology	3814	KISS1	ORPHA:432
HP:0000036	Abnormal penis morphology	10466	COG5	ORPHA:263487
HP:0000036	Abnormal penis morphology	56896	DPYSL5	OMIM:619435
HP:0000036	Abnormal penis morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000036	Abnormal penis morphology	23314	SATB2	ORPHA:251028
HP:0000036	Abnormal penis morphology	7681	MKRN3	OMIM:176270
HP:0000036	Abnormal penis morphology	3653	IPW	OMIM:176270
HP:0000036	Abnormal penis morphology	54551	MAGEL2	OMIM:176270
HP:0000036	Abnormal penis morphology	54551	MAGEL2	ORPHA:398069
HP:0000036	Abnormal penis morphology	54551	MAGEL2	OMIM:615547
HP:0000036	Abnormal penis morphology	791114	PWRN1	OMIM:176270
HP:0000036	Abnormal penis morphology	100033413	SNORD116-1	OMIM:176270
HP:0000036	Abnormal penis morphology	8924	HERC2	OMIM:176270
HP:0000036	Abnormal penis morphology	145624	PWAR1	OMIM:176270
HP:0000036	Abnormal penis morphology	23742	NPAP1	OMIM:176270
HP:0000036	Abnormal penis morphology	338433	SNORD115-1	OMIM:176270
HP:0000036	Abnormal penis morphology	55593	OTUD5	OMIM:301056
HP:0000036	Abnormal penis morphology	55315	SLC29A3	OMIM:602782
HP:0000036	Abnormal penis morphology	55315	SLC29A3	ORPHA:168569
HP:0000036	Abnormal penis morphology	113179	ADAT3	ORPHA:363528
HP:0000036	Abnormal penis morphology	8882	ZPR1	OMIM:619321
HP:0000036	Abnormal penis morphology	84162	BLTP1	OMIM:617822
HP:0000036	Abnormal penis morphology	6492	SIM1	ORPHA:398079
HP:0000036	Abnormal penis morphology	55784	MCTP2	ORPHA:1596
HP:0000036	Abnormal penis morphology	1363	CPE	OMIM:619326
HP:0000036	Abnormal penis morphology	2068	ERCC2	OMIM:610756
HP:0000036	Abnormal penis morphology	29925	GMPPB	ORPHA:370968
HP:0000036	Abnormal penis morphology	8925	HERC1	ORPHA:457359
HP:0000036	Abnormal penis morphology	51132	RLIM	OMIM:300978
HP:0000036	Abnormal penis morphology	7874	USP7	OMIM:616863
HP:0000036	Abnormal penis morphology	7874	USP7	ORPHA:500055
HP:0000036	Abnormal penis morphology	1108	CHD4	OMIM:617159
HP:0000036	Abnormal penis morphology	1000	CDH2	OMIM:618929
HP:0000036	Abnormal penis morphology	80311	KLHL15	OMIM:300982
HP:0000036	Abnormal penis morphology	1641	DCX	OMIM:300067
HP:0000036	Abnormal penis morphology	372	ARCN1	OMIM:617164
HP:0000036	Abnormal penis morphology	7317	UBA1	OMIM:301830
HP:0000036	Abnormal penis morphology	5277	PIGA	OMIM:300868
HP:0000036	Abnormal penis morphology	55210	ATAD3A	OMIM:618810
HP:0000036	Abnormal penis morphology	79633	FAT4	OMIM:615546
HP:0000036	Abnormal penis morphology	4990	SIX6	OMIM:206900
HP:0000036	Abnormal penis morphology	60	ACTB	OMIM:243310
HP:0000036	Abnormal penis morphology	9851	KIAA0753	OMIM:619479
HP:0000036	Abnormal penis morphology	2892	GRIA3	ORPHA:364028
HP:0000036	Abnormal penis morphology	348180	CTU2	OMIM:618142
HP:0000036	Abnormal penis morphology	340419	RSPO2	OMIM:618021
HP:0000036	Abnormal penis morphology	7737	RNF113A	OMIM:300953
HP:0000036	Abnormal penis morphology	6711	SPTBN1	OMIM:619475
HP:0000036	Abnormal penis morphology	95681	CEP41	OMIM:614464
HP:0000036	Abnormal penis morphology	29957	SLC25A24	OMIM:612289
HP:0000036	Abnormal penis morphology	6608	SMO	OMIM:241800
HP:0000036	Abnormal penis morphology	80036	TRPM3	OMIM:620224
HP:0000036	Abnormal penis morphology	2132	EXT2	ORPHA:52022
HP:0000036	Abnormal penis morphology	60529	ALX4	ORPHA:52022
HP:0000036	Abnormal penis morphology	51317	PHF21A	ORPHA:52022
HP:0000036	Abnormal penis morphology	8567	MADD	OMIM:619004
HP:0000036	Abnormal penis morphology	8567	MADD	OMIM:619005
HP:0000036	Abnormal penis morphology	202018	TAPT1	OMIM:616897
HP:0000036	Abnormal penis morphology	745	MYRF	OMIM:618280
HP:0000036	Abnormal penis morphology	4047	LSS	OMIM:618840
HP:0000036	Abnormal penis morphology	23247	KATNIP	OMIM:616784
HP:0000036	Abnormal penis morphology	9786	KIAA0586	OMIM:616546
HP:0000036	Abnormal penis morphology	5718	PSMD12	OMIM:617516
HP:0000036	Abnormal penis morphology	6261	RYR1	ORPHA:98905
HP:0000036	Abnormal penis morphology	5087	PBX1	OMIM:617641
HP:0000036	Abnormal penis morphology	523	ATP6V1A	OMIM:617403
HP:0000036	Abnormal penis morphology	529	ATP6V1E1	OMIM:617402
HP:0000036	Abnormal penis morphology	10847	SRCAP	OMIM:136140
HP:0000036	Abnormal penis morphology	389827	MYMK	ORPHA:1358
HP:0000036	Abnormal penis morphology	101929726	MYMX	ORPHA:1358
HP:0000036	Abnormal penis morphology	55612	FERMT1	OMIM:173650
HP:0000036	Abnormal penis morphology	55612	FERMT1	ORPHA:2908
HP:0000036	Abnormal penis morphology	80152	CENPT	OMIM:618702
HP:0000036	Abnormal penis morphology	10084	PQBP1	OMIM:309500
HP:0000036	Abnormal penis morphology	55780	ERMARD	ORPHA:75857
HP:0000036	Abnormal penis morphology	10664	CTCF	ORPHA:363611
HP:0000036	Abnormal penis morphology	64324	NSD1	ORPHA:821
HP:0000036	Abnormal penis morphology	29072	SETD2	ORPHA:821
HP:0000036	Abnormal penis morphology	10297	APC2	ORPHA:821
HP:0000036	Abnormal penis morphology	3187	HNRNPH1	OMIM:620083
HP:0000036	Abnormal penis morphology	57724	EPG5	OMIM:242840
HP:0000036	Abnormal penis morphology	7259	TSPYL1	OMIM:608800
HP:0000036	Abnormal penis morphology	92840	REEP6	ORPHA:791
HP:0000036	Abnormal penis morphology	6094	ROM1	ORPHA:791
HP:0000036	Abnormal penis morphology	6017	RLBP1	ORPHA:791
HP:0000036	Abnormal penis morphology	7401	CLRN1	ORPHA:791
HP:0000036	Abnormal penis morphology	24	ABCA4	ORPHA:791
HP:0000036	Abnormal penis morphology	130557	ZNF513	ORPHA:791
HP:0000036	Abnormal penis morphology	582	BBS1	ORPHA:791
HP:0000036	Abnormal penis morphology	582	BBS1	ORPHA:110
HP:0000036	Abnormal penis morphology	92211	CDHR1	ORPHA:791
HP:0000036	Abnormal penis morphology	23568	ARL2BP	ORPHA:791
HP:0000036	Abnormal penis morphology	6121	RPE65	ORPHA:791
HP:0000036	Abnormal penis morphology	54806	AHI1	ORPHA:791
HP:0000036	Abnormal penis morphology	6101	RP1	ORPHA:791
HP:0000036	Abnormal penis morphology	3419	IDH3A	ORPHA:791
HP:0000036	Abnormal penis morphology	4751	NEK2	ORPHA:791
HP:0000036	Abnormal penis morphology	346007	EYS	ORPHA:791
HP:0000036	Abnormal penis morphology	8100	IFT88	ORPHA:791
HP:0000036	Abnormal penis morphology	23020	SNRNP200	ORPHA:791
HP:0000036	Abnormal penis morphology	762	CA4	ORPHA:791
HP:0000036	Abnormal penis morphology	138050	HGSNAT	ORPHA:791
HP:0000036	Abnormal penis morphology	196	AHR	ORPHA:791
HP:0000036	Abnormal penis morphology	3614	IMPDH1	ORPHA:791
HP:0000036	Abnormal penis morphology	123016	TTC8	ORPHA:791
HP:0000036	Abnormal penis morphology	123016	TTC8	ORPHA:110
HP:0000036	Abnormal penis morphology	6103	RPGR	ORPHA:791
HP:0000036	Abnormal penis morphology	1406	CRX	ORPHA:791
HP:0000036	Abnormal penis morphology	5148	PDE6G	ORPHA:791
HP:0000036	Abnormal penis morphology	26160	IFT172	ORPHA:791
HP:0000036	Abnormal penis morphology	26160	IFT172	ORPHA:110
HP:0000036	Abnormal penis morphology	26121	PRPF31	ORPHA:791
HP:0000036	Abnormal penis morphology	583	BBS2	ORPHA:791
HP:0000036	Abnormal penis morphology	583	BBS2	ORPHA:110
HP:0000036	Abnormal penis morphology	4117	MAK	ORPHA:791
HP:0000036	Abnormal penis morphology	25794	FSCN2	ORPHA:791
HP:0000036	Abnormal penis morphology	375298	CERKL	ORPHA:791
HP:0000036	Abnormal penis morphology	3420	IDH3B	ORPHA:791
HP:0000036	Abnormal penis morphology	57670	KIAA1549	ORPHA:791
HP:0000036	Abnormal penis morphology	7275	TUB	ORPHA:791
HP:0000036	Abnormal penis morphology	24148	PRPF6	ORPHA:791
HP:0000036	Abnormal penis morphology	23418	CRB1	ORPHA:791
HP:0000036	Abnormal penis morphology	10461	MERTK	ORPHA:791
HP:0000036	Abnormal penis morphology	57709	SLC7A14	ORPHA:791
HP:0000036	Abnormal penis morphology	768206	PRCD	ORPHA:791
HP:0000036	Abnormal penis morphology	7399	USH2A	ORPHA:791
HP:0000036	Abnormal penis morphology	23370	ARHGEF18	ORPHA:791
HP:0000036	Abnormal penis morphology	5949	RBP3	ORPHA:791
HP:0000036	Abnormal penis morphology	6010	RHO	ORPHA:791
HP:0000036	Abnormal penis morphology	6100	RP9	ORPHA:791
HP:0000036	Abnormal penis morphology	10002	NR2E3	ORPHA:791
HP:0000036	Abnormal penis morphology	9227	LRAT	ORPHA:791
HP:0000036	Abnormal penis morphology	84140	FAM161A	ORPHA:791
HP:0000036	Abnormal penis morphology	55812	SPATA7	ORPHA:791
HP:0000036	Abnormal penis morphology	55624	POMGNT1	ORPHA:791
HP:0000036	Abnormal penis morphology	55624	POMGNT1	ORPHA:899
HP:0000036	Abnormal penis morphology	79797	ZNF408	ORPHA:791
HP:0000036	Abnormal penis morphology	403	ARL3	ORPHA:791
HP:0000036	Abnormal penis morphology	5145	PDE6A	ORPHA:791
HP:0000036	Abnormal penis morphology	10210	TOPORS	ORPHA:791
HP:0000036	Abnormal penis morphology	8842	PROM1	ORPHA:791
HP:0000036	Abnormal penis morphology	9128	PRPF4	ORPHA:791
HP:0000036	Abnormal penis morphology	145226	RDH12	ORPHA:791
HP:0000036	Abnormal penis morphology	50939	IMPG2	ORPHA:791
HP:0000036	Abnormal penis morphology	8481	OFD1	ORPHA:791
HP:0000036	Abnormal penis morphology	49855	SCAPER	ORPHA:791
HP:0000036	Abnormal penis morphology	49855	SCAPER	ORPHA:110
HP:0000036	Abnormal penis morphology	9742	IFT140	ORPHA:791
HP:0000036	Abnormal penis morphology	2979	GUCA1B	ORPHA:791
HP:0000036	Abnormal penis morphology	1259	CNGA1	ORPHA:791
HP:0000036	Abnormal penis morphology	1258	CNGB1	ORPHA:791
HP:0000036	Abnormal penis morphology	60509	AGBL5	ORPHA:791
HP:0000036	Abnormal penis morphology	5961	PRPH2	ORPHA:791
HP:0000036	Abnormal penis morphology	388939	PCARE	ORPHA:791
HP:0000036	Abnormal penis morphology	7439	BEST1	ORPHA:791
HP:0000036	Abnormal penis morphology	9785	DHX38	ORPHA:791
HP:0000036	Abnormal penis morphology	7287	TULP1	ORPHA:791
HP:0000036	Abnormal penis morphology	5995	RGR	ORPHA:791
HP:0000036	Abnormal penis morphology	9129	PRPF3	ORPHA:791
HP:0000036	Abnormal penis morphology	55975	KLHL7	ORPHA:791
HP:0000036	Abnormal penis morphology	3617	IMPG1	ORPHA:791
HP:0000036	Abnormal penis morphology	94137	RP1L1	ORPHA:791
HP:0000036	Abnormal penis morphology	5158	PDE6B	ORPHA:791
HP:0000036	Abnormal penis morphology	6102	RP2	ORPHA:791
HP:0000036	Abnormal penis morphology	55857	KIZ	ORPHA:791
HP:0000036	Abnormal penis morphology	64218	SEMA4A	ORPHA:791
HP:0000036	Abnormal penis morphology	4901	NRL	ORPHA:791
HP:0000036	Abnormal penis morphology	157657	CFAP418	ORPHA:791
HP:0000036	Abnormal penis morphology	157657	CFAP418	ORPHA:110
HP:0000036	Abnormal penis morphology	10594	PRPF8	ORPHA:791
HP:0000036	Abnormal penis morphology	84100	ARL6	ORPHA:791
HP:0000036	Abnormal penis morphology	84100	ARL6	ORPHA:110
HP:0000036	Abnormal penis morphology	6295	SAG	ORPHA:791
HP:0000036	Abnormal penis morphology	79947	DHDDS	ORPHA:791
HP:0000036	Abnormal penis morphology	341640	FREM2	ORPHA:2052
HP:0000036	Abnormal penis morphology	80144	FRAS1	ORPHA:2052
HP:0000036	Abnormal penis morphology	23426	GRIP1	ORPHA:2052
HP:0000036	Abnormal penis morphology	23426	GRIP1	OMIM:617667
HP:0000036	Abnormal penis morphology	6309	SC5D	ORPHA:46059
HP:0000036	Abnormal penis morphology	7518	XRCC4	ORPHA:99812
HP:0000036	Abnormal penis morphology	3981	LIG4	ORPHA:99812
HP:0000036	Abnormal penis morphology	55777	MBD5	ORPHA:228402
HP:0000036	Abnormal penis morphology	79813	EHMT1	ORPHA:96147
HP:0000036	Abnormal penis morphology	55112	DYNC2I1	ORPHA:93271
HP:0000036	Abnormal penis morphology	57560	IFT80	ORPHA:93271
HP:0000036	Abnormal penis morphology	57539	WDR35	ORPHA:93271
HP:0000036	Abnormal penis morphology	79659	DYNC2H1	ORPHA:93271
HP:0000036	Abnormal penis morphology	89891	DYNC2I2	ORPHA:93271
HP:0000036	Abnormal penis morphology	6905	TBCE	ORPHA:2323
HP:0000036	Abnormal penis morphology	8085	KMT2D	ORPHA:2322
HP:0000036	Abnormal penis morphology	7403	KDM6A	ORPHA:2322
HP:0000036	Abnormal penis morphology	129563	DIS3L2	ORPHA:2849
HP:0000036	Abnormal penis morphology	1717	DHCR7	ORPHA:818
HP:0000036	Abnormal penis morphology	84892	POMGNT2	ORPHA:899
HP:0000036	Abnormal penis morphology	148789	B3GALNT2	ORPHA:899
HP:0000036	Abnormal penis morphology	79147	FKRP	ORPHA:899
HP:0000036	Abnormal penis morphology	29954	POMT2	ORPHA:899
HP:0000036	Abnormal penis morphology	9215	LARGE1	ORPHA:899
HP:0000036	Abnormal penis morphology	1282	COL4A1	ORPHA:899
HP:0000036	Abnormal penis morphology	729920	CRPPA	ORPHA:899
HP:0000036	Abnormal penis morphology	10329	RXYLT1	ORPHA:899
HP:0000036	Abnormal penis morphology	1605	DAG1	ORPHA:899
HP:0000036	Abnormal penis morphology	11041	B4GAT1	ORPHA:899
HP:0000036	Abnormal penis morphology	10585	POMT1	ORPHA:899
HP:0000036	Abnormal penis morphology	84197	POMK	ORPHA:899
HP:0000036	Abnormal penis morphology	2218	FKTN	ORPHA:899
HP:0000036	Abnormal penis morphology	6926	TBX3	ORPHA:3138
HP:0000036	Abnormal penis morphology	170302	ARX	ORPHA:452
HP:0000036	Abnormal penis morphology	28514	DLL1	ORPHA:280200
HP:0000036	Abnormal penis morphology	2253	FGF8	ORPHA:280200
HP:0000036	Abnormal penis morphology	2253	FGF8	ORPHA:478
HP:0000036	Abnormal penis morphology	6496	SIX3	ORPHA:280200
HP:0000036	Abnormal penis morphology	7050	TGIF1	ORPHA:280200
HP:0000036	Abnormal penis morphology	4838	NODAL	ORPHA:280200
HP:0000036	Abnormal penis morphology	6469	SHH	ORPHA:280200
HP:0000036	Abnormal penis morphology	51684	SUFU	ORPHA:280200
HP:0000036	Abnormal penis morphology	7546	ZIC2	ORPHA:280200
HP:0000036	Abnormal penis morphology	2619	GAS1	ORPHA:280200
HP:0000036	Abnormal penis morphology	84976	DISP1	ORPHA:280200
HP:0000036	Abnormal penis morphology	2736	GLI2	ORPHA:280200
HP:0000036	Abnormal penis morphology	8928	FOXH1	ORPHA:280200
HP:0000036	Abnormal penis morphology	5727	PTCH1	ORPHA:280200
HP:0000036	Abnormal penis morphology	50937	CDON	ORPHA:280200
HP:0000036	Abnormal penis morphology	50937	CDON	ORPHA:95496
HP:0000036	Abnormal penis morphology	6657	SOX2	ORPHA:77298
HP:0000036	Abnormal penis morphology	6657	SOX2	ORPHA:3157
HP:0000036	Abnormal penis morphology	64359	NXN	ORPHA:1507
HP:0000036	Abnormal penis morphology	4920	ROR2	ORPHA:1507
HP:0000036	Abnormal penis morphology	546	ATRX	ORPHA:847
HP:0000036	Abnormal penis morphology	8626	TP63	ORPHA:93930
HP:0000036	Abnormal penis morphology	3670	ISL1	ORPHA:93930
HP:0000036	Abnormal penis morphology	81620	CDT1	ORPHA:2554
HP:0000036	Abnormal penis morphology	5000	ORC4	ORPHA:2554
HP:0000036	Abnormal penis morphology	23594	ORC6	ORPHA:2554
HP:0000036	Abnormal penis morphology	8318	CDC45	ORPHA:2554
HP:0000036	Abnormal penis morphology	990	CDC6	ORPHA:2554
HP:0000036	Abnormal penis morphology	4998	ORC1	ORPHA:2554
HP:0000036	Abnormal penis morphology	51053	GMNN	ORPHA:2554
HP:0000036	Abnormal penis morphology	197131	UBR1	ORPHA:2315
HP:0000036	Abnormal penis morphology	6662	SOX9	ORPHA:251510
HP:0000036	Abnormal penis morphology	6662	SOX9	ORPHA:2138
HP:0000036	Abnormal penis morphology	6845	VAMP7	ORPHA:251510
HP:0000036	Abnormal penis morphology	51741	WWOX	ORPHA:251510
HP:0000036	Abnormal penis morphology	2516	NR5A1	ORPHA:251510
HP:0000036	Abnormal penis morphology	2516	NR5A1	ORPHA:2138
HP:0000036	Abnormal penis morphology	58524	DMRT3	ORPHA:251510
HP:0000036	Abnormal penis morphology	57647	DHX37	ORPHA:251510
HP:0000036	Abnormal penis morphology	57647	DHX37	ORPHA:983
HP:0000036	Abnormal penis morphology	23414	ZFPM2	ORPHA:251510
HP:0000036	Abnormal penis morphology	190	NR0B1	ORPHA:251510
HP:0000036	Abnormal penis morphology	23476	BRD4	ORPHA:199
HP:0000036	Abnormal penis morphology	9126	SMC3	ORPHA:199
HP:0000036	Abnormal penis morphology	8243	SMC1A	ORPHA:199
HP:0000036	Abnormal penis morphology	25836	NIPBL	ORPHA:199
HP:0000036	Abnormal penis morphology	55869	HDAC8	ORPHA:199
HP:0000036	Abnormal penis morphology	5885	RAD21	ORPHA:199
HP:0000036	Abnormal penis morphology	92482	BBIP1	ORPHA:110
HP:0000036	Abnormal penis morphology	80184	CEP290	ORPHA:110
HP:0000036	Abnormal penis morphology	11020	IFT27	ORPHA:110
HP:0000036	Abnormal penis morphology	4867	NPHP1	ORPHA:110
HP:0000036	Abnormal penis morphology	51057	WDPCP	ORPHA:110
HP:0000036	Abnormal penis morphology	27241	BBS9	ORPHA:110
HP:0000036	Abnormal penis morphology	84984	CEP19	ORPHA:110
HP:0000036	Abnormal penis morphology	22954	TRIM32	ORPHA:110
HP:0000036	Abnormal penis morphology	54903	MKS1	ORPHA:110
HP:0000036	Abnormal penis morphology	79738	BBS10	ORPHA:110
HP:0000036	Abnormal penis morphology	585	BBS4	ORPHA:110
HP:0000036	Abnormal penis morphology	8195	MKKS	ORPHA:110
HP:0000036	Abnormal penis morphology	54585	LZTFL1	ORPHA:110
HP:0000036	Abnormal penis morphology	55212	BBS7	ORPHA:110
HP:0000036	Abnormal penis morphology	166379	BBS12	ORPHA:110
HP:0000036	Abnormal penis morphology	10806	SDCCAG8	ORPHA:110
HP:0000036	Abnormal penis morphology	129880	BBS5	ORPHA:110
HP:0000036	Abnormal penis morphology	80173	IFT74	ORPHA:110
HP:0000036	Abnormal penis morphology	5396	PRRX1	ORPHA:990
HP:0000036	Abnormal penis morphology	5015	OTX2	ORPHA:990
HP:0000036	Abnormal penis morphology	5015	OTX2	ORPHA:3157
HP:0000036	Abnormal penis morphology	23347	SMCHD1	ORPHA:2250
HP:0000036	Abnormal penis morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000036	Abnormal penis morphology	7531	YWHAE	ORPHA:217385
HP:0000036	Abnormal penis morphology	6804	STX1A	ORPHA:904
HP:0000036	Abnormal penis morphology	7461	CLIP2	ORPHA:904
HP:0000036	Abnormal penis morphology	84277	DNAJC30	ORPHA:904
HP:0000036	Abnormal penis morphology	8468	FKBP6	ORPHA:904
HP:0000036	Abnormal penis morphology	5982	RFC2	ORPHA:904
HP:0000036	Abnormal penis morphology	2969	GTF2I	ORPHA:904
HP:0000036	Abnormal penis morphology	3984	LIMK1	ORPHA:904
HP:0000036	Abnormal penis morphology	9569	GTF2IRD1	ORPHA:904
HP:0000036	Abnormal penis morphology	155382	VPS37D	ORPHA:904
HP:0000036	Abnormal penis morphology	155368	METTL27	ORPHA:904
HP:0000036	Abnormal penis morphology	114049	BUD23	ORPHA:904
HP:0000036	Abnormal penis morphology	7458	EIF4H	ORPHA:904
HP:0000036	Abnormal penis morphology	84163	GTF2IRD2	ORPHA:904
HP:0000036	Abnormal penis morphology	9275	BCL7B	ORPHA:904
HP:0000036	Abnormal penis morphology	26608	TBL2	ORPHA:904
HP:0000036	Abnormal penis morphology	653361	NCF1	ORPHA:904
HP:0000036	Abnormal penis morphology	135886	TMEM270	ORPHA:904
HP:0000036	Abnormal penis morphology	51085	MLXIPL	ORPHA:904
HP:0000036	Abnormal penis morphology	9031	BAZ1B	ORPHA:904
HP:0000036	Abnormal penis morphology	2006	ELN	ORPHA:904
HP:0000036	Abnormal penis morphology	5590	PRKCZ	ORPHA:1606
HP:0000036	Abnormal penis morphology	2563	GABRD	ORPHA:1606
HP:0000036	Abnormal penis morphology	23013	SPEN	ORPHA:1606
HP:0000036	Abnormal penis morphology	8510	MMP23B	ORPHA:1606
HP:0000036	Abnormal penis morphology	7798	LUZP1	ORPHA:1606
HP:0000036	Abnormal penis morphology	6497	SKI	ORPHA:1606
HP:0000036	Abnormal penis morphology	10630	PDPN	ORPHA:1606
HP:0000036	Abnormal penis morphology	3339	HSPG2	ORPHA:1606
HP:0000036	Abnormal penis morphology	10277	UBE4B	ORPHA:1606
HP:0000036	Abnormal penis morphology	8514	KCNAB2	ORPHA:1606
HP:0000036	Abnormal penis morphology	473	RERE	ORPHA:1606
HP:0000036	Abnormal penis morphology	63976	PRDM16	ORPHA:1606
HP:0000036	Abnormal penis morphology	54897	CASZ1	ORPHA:1606
HP:0000036	Abnormal penis morphology	286	ANK1	ORPHA:251066
HP:0000036	Abnormal penis morphology	128674	PROKR2	ORPHA:95496
HP:0000036	Abnormal penis morphology	128674	PROKR2	ORPHA:3157
HP:0000036	Abnormal penis morphology	128674	PROKR2	ORPHA:478
HP:0000036	Abnormal penis morphology	89884	LHX4	ORPHA:95496
HP:0000036	Abnormal penis morphology	55717	WDR11	ORPHA:95496
HP:0000036	Abnormal penis morphology	55717	WDR11	ORPHA:478
HP:0000036	Abnormal penis morphology	6091	ROBO1	ORPHA:95496
HP:0000036	Abnormal penis morphology	8820	HESX1	ORPHA:95496
HP:0000036	Abnormal penis morphology	8820	HESX1	ORPHA:3157
HP:0000036	Abnormal penis morphology	8820	HESX1	ORPHA:478
HP:0000036	Abnormal penis morphology	23432	GPR161	ORPHA:95496
HP:0000036	Abnormal penis morphology	84172	POLR1B	ORPHA:861
HP:0000036	Abnormal penis morphology	9533	POLR1C	ORPHA:861
HP:0000036	Abnormal penis morphology	51082	POLR1D	ORPHA:861
HP:0000036	Abnormal penis morphology	6949	TCOF1	ORPHA:861
HP:0000036	Abnormal penis morphology	3110	MNX1	ORPHA:1552
HP:0000036	Abnormal penis morphology	8450	CUL4B	ORPHA:85293
HP:0000036	Abnormal penis morphology	6299	SALL1	ORPHA:857
HP:0000036	Abnormal penis morphology	51339	DACT1	ORPHA:857
HP:0000036	Abnormal penis morphology	2239	GPC4	ORPHA:373
HP:0000036	Abnormal penis morphology	2719	GPC3	ORPHA:373
HP:0000036	Abnormal penis morphology	7476	WNT7A	ORPHA:2879
HP:0000036	Abnormal penis morphology	131118	DNAJC19	ORPHA:66634
HP:0000036	Abnormal penis morphology	1968	EIF2S3	ORPHA:85282
HP:0000036	Abnormal penis morphology	4621	MYH3	ORPHA:2990
HP:0000036	Abnormal penis morphology	1146	CHRNG	ORPHA:2990
HP:0000036	Abnormal penis morphology	84295	PHF6	ORPHA:127
HP:0000036	Abnormal penis morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000036	Abnormal penis morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000036	Abnormal penis morphology	22931	RAB18	ORPHA:2510
HP:0000036	Abnormal penis morphology	128637	TBC1D20	ORPHA:2510
HP:0000036	Abnormal penis morphology	3239	HOXD13	ORPHA:887
HP:0000036	Abnormal penis morphology	117581	TWIST2	ORPHA:920
HP:0000036	Abnormal penis morphology	8726	EED	ORPHA:3447
HP:0000036	Abnormal penis morphology	23512	SUZ12	ORPHA:3447
HP:0000036	Abnormal penis morphology	2146	EZH2	ORPHA:3447
HP:0000036	Abnormal penis morphology	9897	WASHC5	ORPHA:7
HP:0000036	Abnormal penis morphology	28952	CCDC22	ORPHA:7
HP:0000036	Abnormal penis morphology	6658	SOX3	ORPHA:3157
HP:0000036	Abnormal penis morphology	9915	ARNT2	ORPHA:3157
HP:0000036	Abnormal penis morphology	2690	GHR	ORPHA:633
HP:0000036	Abnormal penis morphology	6716	SRD5A2	ORPHA:753
HP:0000036	Abnormal penis morphology	10371	SEMA3A	ORPHA:478
HP:0000036	Abnormal penis morphology	81848	SPRY4	ORPHA:478
HP:0000036	Abnormal penis morphology	23767	FLRT3	ORPHA:478
HP:0000036	Abnormal penis morphology	79625	NDNF	ORPHA:478
HP:0000036	Abnormal penis morphology	389549	FEZF1	ORPHA:478
HP:0000036	Abnormal penis morphology	1630	DCC	ORPHA:478
HP:0000036	Abnormal penis morphology	3730	ANOS1	ORPHA:478
HP:0000036	Abnormal penis morphology	54756	IL17RD	ORPHA:478
HP:0000036	Abnormal penis morphology	6663	SOX10	ORPHA:478
HP:0000036	Abnormal penis morphology	285025	CCDC141	ORPHA:478
HP:0000036	Abnormal penis morphology	60675	PROK2	ORPHA:478
HP:0000036	Abnormal penis morphology	55636	CHD7	ORPHA:478
HP:0000036	Abnormal penis morphology	1848	DUSP6	ORPHA:478
HP:0000036	Abnormal penis morphology	9394	HS6ST1	ORPHA:478
HP:0000036	Abnormal penis morphology	8822	FGF17	ORPHA:478
HP:0000036	Abnormal penis morphology	10606	PAICS	OMIM:619859
HP:0000036	Abnormal penis morphology	2263	FGFR2	OMIM:149730
HP:0000036	Abnormal penis morphology	50945	TBX22	ORPHA:921
HP:0000036	Abnormal penis morphology	1583	CYP11A1	ORPHA:289548
HP:0000036	Abnormal penis morphology	1583	CYP11A1	ORPHA:168558
HP:0000036	Abnormal penis morphology	3284	HSD3B2	OMIM:201810
HP:0000036	Abnormal penis morphology	4983	OPHN1	OMIM:300486
HP:0000036	Abnormal penis morphology	25942	SIN3A	ORPHA:94065
HP:0000036	Abnormal penis morphology	25942	SIN3A	OMIM:613406
HP:0000036	Abnormal penis morphology	8295	TRRAP	OMIM:618454
HP:0000036	Abnormal penis morphology	54809	SAMD9	OMIM:617053
HP:0000036	Abnormal penis morphology	57187	THOC2	OMIM:300957
HP:0000036	Abnormal penis morphology	6870	TACR3	OMIM:614840
HP:0000036	Abnormal penis morphology	3481	IGF2	ORPHA:397590
HP:0000036	Abnormal penis morphology	1028	CDKN1C	ORPHA:397590
HP:0000036	Abnormal penis morphology	5324	PLAG1	ORPHA:397590
HP:0000036	Abnormal penis morphology	8091	HMGA2	ORPHA:397590
HP:0000036	Abnormal penis morphology	22858	CILK1	OMIM:612651
HP:0000036	Abnormal penis morphology	25914	RTTN	ORPHA:468631
HP:0000036	Abnormal penis morphology	114034	TOE1	ORPHA:284339
HP:0000036	Abnormal penis morphology	9562	MINPP1	ORPHA:284339
HP:0000036	Abnormal penis morphology	56983	POGLUT1	ORPHA:79145
HP:0000036	Abnormal penis morphology	3852	KRT5	ORPHA:79145
HP:0000036	Abnormal penis morphology	23509	POFUT1	ORPHA:79145
HP:0000036	Abnormal penis morphology	55851	PSENEN	ORPHA:79145
HP:0000036	Abnormal penis morphology	81857	MED25	ORPHA:464738
HP:0000036	Abnormal penis morphology	161742	SPRED1	ORPHA:137605
HP:0000036	Abnormal penis morphology	5792	PTPRF	OMIM:616001
HP:0000036	Abnormal penis morphology	672	BRCA1	ORPHA:84
HP:0000036	Abnormal penis morphology	10459	MAD2L2	ORPHA:84
HP:0000036	Abnormal penis morphology	7516	XRCC2	ORPHA:84
HP:0000036	Abnormal penis morphology	29089	UBE2T	ORPHA:84
HP:0000036	Abnormal penis morphology	675	BRCA2	ORPHA:84
HP:0000036	Abnormal penis morphology	55120	FANCL	ORPHA:84
HP:0000036	Abnormal penis morphology	2177	FANCD2	ORPHA:84
HP:0000036	Abnormal penis morphology	2175	FANCA	ORPHA:84
HP:0000036	Abnormal penis morphology	2187	FANCB	ORPHA:84
HP:0000036	Abnormal penis morphology	2176	FANCC	ORPHA:84
HP:0000036	Abnormal penis morphology	2178	FANCE	ORPHA:84
HP:0000036	Abnormal penis morphology	2188	FANCF	ORPHA:84
HP:0000036	Abnormal penis morphology	2189	FANCG	ORPHA:84
HP:0000036	Abnormal penis morphology	5888	RAD51	ORPHA:84
HP:0000036	Abnormal penis morphology	5889	RAD51C	ORPHA:84
HP:0000036	Abnormal penis morphology	55159	RFWD3	ORPHA:84
HP:0000036	Abnormal penis morphology	83990	BRIP1	ORPHA:84
HP:0000036	Abnormal penis morphology	57697	FANCM	ORPHA:84
HP:0000036	Abnormal penis morphology	79728	PALB2	ORPHA:84
HP:0000036	Abnormal penis morphology	84464	SLX4	ORPHA:84
HP:0000036	Abnormal penis morphology	2072	ERCC4	ORPHA:84
HP:0000036	Abnormal penis morphology	55215	FANCI	ORPHA:84
HP:0000036	Abnormal penis morphology	80169	CTC1	ORPHA:1775
HP:0000036	Abnormal penis morphology	26277	TINF2	ORPHA:1775
HP:0000036	Abnormal penis morphology	55651	NHP2	ORPHA:1775
HP:0000036	Abnormal penis morphology	79650	USB1	ORPHA:1775
HP:0000036	Abnormal penis morphology	55135	WRAP53	ORPHA:1775
HP:0000036	Abnormal penis morphology	51750	RTEL1	ORPHA:1775
HP:0000036	Abnormal penis morphology	4869	NPM1	ORPHA:1775
HP:0000036	Abnormal penis morphology	7012	TERC	ORPHA:1775
HP:0000036	Abnormal penis morphology	55505	NOP10	ORPHA:1775
HP:0000036	Abnormal penis morphology	5073	PARN	ORPHA:1775
HP:0000036	Abnormal penis morphology	7015	TERT	ORPHA:1775
HP:0000036	Abnormal penis morphology	1736	DKC1	ORPHA:1775
HP:0000036	Abnormal penis morphology	7298	TYMS	ORPHA:1775
HP:0000036	Abnormal penis morphology	5080	PAX6	ORPHA:893
HP:0000036	Abnormal penis morphology	627	BDNF	ORPHA:893
HP:0000036	Abnormal penis morphology	7490	WT1	ORPHA:893
HP:0000036	Abnormal penis morphology	79827	CLMP	ORPHA:2301
HP:0000036	Abnormal penis morphology	2316	FLNA	ORPHA:2301
HP:0000036	Abnormal penis morphology	10908	PNPLA6	ORPHA:2377
HP:0000036	Abnormal penis morphology	10046	MAMLD1	ORPHA:95706
HP:0000036	Abnormal penis morphology	367	AR	ORPHA:95706
HP:0000036	Abnormal penis morphology	6899	TBX1	ORPHA:1727
HP:0000036	Abnormal penis morphology	2767	GNA11	ORPHA:1556
HP:0000036	Abnormal penis morphology	151188	ARL6IP6	ORPHA:1556
HP:0000036	Abnormal penis morphology	2626	GATA4	OMIM:615542
HP:0000037	Male pseudohermaphroditism	3293	HSD17B3	ORPHA:752
HP:0000037	Male pseudohermaphroditism	3293	HSD17B3	OMIM:264300
HP:0000037	Male pseudohermaphroditism	3284	HSD3B2	OMIM:201810
HP:0000037	Male pseudohermaphroditism	3284	HSD3B2	ORPHA:90791
HP:0000037	Male pseudohermaphroditism	7490	WT1	OMIM:608978
HP:0000037	Male pseudohermaphroditism	7490	WT1	OMIM:194080
HP:0000037	Male pseudohermaphroditism	7490	WT1	ORPHA:347
HP:0000037	Male pseudohermaphroditism	7490	WT1	OMIM:136680
HP:0000037	Male pseudohermaphroditism	7490	WT1	ORPHA:220
HP:0000037	Male pseudohermaphroditism	7490	WT1	ORPHA:242
HP:0000037	Male pseudohermaphroditism	55733	HHAT	ORPHA:1422
HP:0000037	Male pseudohermaphroditism	55733	HHAT	OMIM:600092
HP:0000037	Male pseudohermaphroditism	268	AMH	ORPHA:2856
HP:0000037	Male pseudohermaphroditism	269	AMHR2	ORPHA:2856
HP:0000037	Male pseudohermaphroditism	1583	CYP11A1	ORPHA:168558
HP:0000037	Male pseudohermaphroditism	1583	CYP11A1	ORPHA:289548
HP:0000037	Male pseudohermaphroditism	367	AR	OMIM:312300
HP:0000037	Male pseudohermaphroditism	546	ATRX	ORPHA:847
HP:0000037	Male pseudohermaphroditism	6736	SRY	OMIM:400044
HP:0000037	Male pseudohermaphroditism	6736	SRY	ORPHA:242
HP:0000037	Male pseudohermaphroditism	1528	CYB5A	OMIM:250790
HP:0000037	Male pseudohermaphroditism	1528	CYB5A	ORPHA:90796
HP:0000037	Male pseudohermaphroditism	54539	NDUFB11	ORPHA:2556
HP:0000037	Male pseudohermaphroditism	1349	COX7B	ORPHA:2556
HP:0000037	Male pseudohermaphroditism	3052	HCCS	ORPHA:2556
HP:0000037	Male pseudohermaphroditism	57647	DHX37	ORPHA:983
HP:0000037	Male pseudohermaphroditism	57647	DHX37	ORPHA:242
HP:0000037	Male pseudohermaphroditism	84314	TMEM107	ORPHA:564
HP:0000037	Male pseudohermaphroditism	26123	TCTN3	ORPHA:564
HP:0000037	Male pseudohermaphroditism	79867	TCTN2	ORPHA:564
HP:0000037	Male pseudohermaphroditism	80776	B9D2	ORPHA:564
HP:0000037	Male pseudohermaphroditism	79600	TCTN1	ORPHA:564
HP:0000037	Male pseudohermaphroditism	57096	RPGRIP1	ORPHA:564
HP:0000037	Male pseudohermaphroditism	79848	CSPP1	ORPHA:564
HP:0000037	Male pseudohermaphroditism	80184	CEP290	ORPHA:564
HP:0000037	Male pseudohermaphroditism	51259	TMEM216	ORPHA:564
HP:0000037	Male pseudohermaphroditism	57545	CC2D2A	ORPHA:564
HP:0000037	Male pseudohermaphroditism	79583	TMEM231	ORPHA:564
HP:0000037	Male pseudohermaphroditism	91147	TMEM67	ORPHA:564
HP:0000037	Male pseudohermaphroditism	79770	TXNDC15	ORPHA:564
HP:0000037	Male pseudohermaphroditism	27077	B9D1	ORPHA:564
HP:0000037	Male pseudohermaphroditism	23322	RPGRIP1L	ORPHA:564
HP:0000037	Male pseudohermaphroditism	54903	MKS1	ORPHA:564
HP:0000037	Male pseudohermaphroditism	65062	TMEM237	ORPHA:564
HP:0000037	Male pseudohermaphroditism	6662	SOX9	ORPHA:140
HP:0000037	Male pseudohermaphroditism	6662	SOX9	ORPHA:242
HP:0000037	Male pseudohermaphroditism	1761	DMRT1	ORPHA:242
HP:0000037	Male pseudohermaphroditism	84733	CBX2	ORPHA:242
HP:0000037	Male pseudohermaphroditism	50846	DHH	ORPHA:242
HP:0000037	Male pseudohermaphroditism	4214	MAP3K1	ORPHA:242
HP:0000037	Male pseudohermaphroditism	2516	NR5A1	ORPHA:242
HP:0000037	Male pseudohermaphroditism	190	NR0B1	ORPHA:242
HP:0000037	Male pseudohermaphroditism	1586	CYP17A1	OMIM:202110
HP:0000037	Male pseudohermaphroditism	1586	CYP17A1	ORPHA:90796
HP:0000037	Male pseudohermaphroditism	1646	AKR1C2	OMIM:614279
HP:0000037	Male pseudohermaphroditism	1109	AKR1C4	OMIM:614279
HP:0000037	Male pseudohermaphroditism	3110	MNX1	ORPHA:1552
HP:0000054	Micropenis	8450	CUL4B	OMIM:300354
HP:0000054	Micropenis	8294	H4C9	OMIM:619951
HP:0000054	Micropenis	10046	MAMLD1	ORPHA:456328
HP:0000054	Micropenis	10046	MAMLD1	ORPHA:95706
HP:0000054	Micropenis	4534	MTM1	ORPHA:456328
HP:0000054	Micropenis	4750	NEK1	OMIM:263520
HP:0000054	Micropenis	128674	PROKR2	OMIM:244200
HP:0000054	Micropenis	128674	PROKR2	ORPHA:478
HP:0000054	Micropenis	128674	PROKR2	ORPHA:432
HP:0000054	Micropenis	201595	STT3B	OMIM:615597
HP:0000054	Micropenis	201595	STT3B	ORPHA:370924
HP:0000054	Micropenis	6938	TCF12	OMIM:619718
HP:0000054	Micropenis	91801	ALKBH8	OMIM:618504
HP:0000054	Micropenis	3209	HOXA13	OMIM:140000
HP:0000054	Micropenis	80144	FRAS1	OMIM:219000
HP:0000054	Micropenis	5447	POR	ORPHA:95699
HP:0000054	Micropenis	5447	POR	OMIM:201750
HP:0000054	Micropenis	4983	OPHN1	OMIM:300486
HP:0000054	Micropenis	197131	UBR1	OMIM:243800
HP:0000054	Micropenis	4281	MID1	OMIM:300000
HP:0000054	Micropenis	6716	SRD5A2	OMIM:264600
HP:0000054	Micropenis	374654	KIF7	OMIM:200990
HP:0000054	Micropenis	9578	CDC42BPB	OMIM:619841
HP:0000054	Micropenis	1855	DVL1	OMIM:616331
HP:0000054	Micropenis	1855	DVL1	OMIM:180700
HP:0000054	Micropenis	58	ACTA1	ORPHA:171430
HP:0000054	Micropenis	4703	NEB	ORPHA:171430
HP:0000054	Micropenis	131377	KLHL40	ORPHA:171430
HP:0000054	Micropenis	10324	KLHL41	ORPHA:171430
HP:0000054	Micropenis	56203	LMOD3	ORPHA:171430
HP:0000054	Micropenis	1723	DHODH	OMIM:263750
HP:0000054	Micropenis	1528	CYB5A	ORPHA:90796
HP:0000054	Micropenis	1528	CYB5A	OMIM:250790
HP:0000054	Micropenis	1586	CYP17A1	ORPHA:90796
HP:0000054	Micropenis	1586	CYP17A1	ORPHA:90793
HP:0000054	Micropenis	1841	DTYMK	OMIM:619847
HP:0000054	Micropenis	4010	LMX1B	ORPHA:495818
HP:0000054	Micropenis	6812	STXBP1	ORPHA:495818
HP:0000054	Micropenis	367	AR	ORPHA:90797
HP:0000054	Micropenis	367	AR	OMIM:312300
HP:0000054	Micropenis	367	AR	ORPHA:95706
HP:0000054	Micropenis	79947	DHDDS	OMIM:613861
HP:0000054	Micropenis	56623	INPP5E	ORPHA:75858
HP:0000054	Micropenis	56623	INPP5E	OMIM:610156
HP:0000054	Micropenis	25782	RAB3GAP2	OMIM:212720
HP:0000054	Micropenis	25782	RAB3GAP2	OMIM:614225
HP:0000054	Micropenis	84634	KISS1R	OMIM:614837
HP:0000054	Micropenis	84634	KISS1R	ORPHA:432
HP:0000054	Micropenis	26012	NSMF	OMIM:614838
HP:0000054	Micropenis	26012	NSMF	ORPHA:432
HP:0000054	Micropenis	1161	ERCC8	OMIM:216400
HP:0000054	Micropenis	55636	CHD7	ORPHA:138
HP:0000054	Micropenis	55636	CHD7	OMIM:214800
HP:0000054	Micropenis	55636	CHD7	ORPHA:478
HP:0000054	Micropenis	55636	CHD7	ORPHA:432
HP:0000054	Micropenis	9723	SEMA3E	ORPHA:138
HP:0000054	Micropenis	9723	SEMA3E	OMIM:146110
HP:0000054	Micropenis	3703	STT3A	ORPHA:370921
HP:0000054	Micropenis	170302	ARX	OMIM:300215
HP:0000054	Micropenis	170302	ARX	ORPHA:1934
HP:0000054	Micropenis	170302	ARX	OMIM:308350
HP:0000054	Micropenis	10584	COLEC10	OMIM:248340
HP:0000054	Micropenis	6870	TACR3	OMIM:614840
HP:0000054	Micropenis	6870	TACR3	ORPHA:478
HP:0000054	Micropenis	6870	TACR3	ORPHA:432
HP:0000054	Micropenis	23522	KAT6B	OMIM:606170
HP:0000054	Micropenis	1889	ECE1	OMIM:613870
HP:0000054	Micropenis	3952	LEP	OMIM:614962
HP:0000054	Micropenis	2796	GNRH1	OMIM:614841
HP:0000054	Micropenis	2796	GNRH1	OMIM:146110
HP:0000054	Micropenis	2796	GNRH1	ORPHA:432
HP:0000054	Micropenis	2688	GH1	OMIM:612781
HP:0000054	Micropenis	815	CAMK2A	OMIM:617798
HP:0000054	Micropenis	5015	OTX2	OMIM:610125
HP:0000054	Micropenis	84100	ARL6	OMIM:209900
HP:0000054	Micropenis	79140	CCDC28B	OMIM:209900
HP:0000054	Micropenis	582	BBS1	OMIM:209900
HP:0000054	Micropenis	114034	TOE1	OMIM:614969
HP:0000054	Micropenis	114034	TOE1	ORPHA:284339
HP:0000054	Micropenis	79087	ALG12	OMIM:607143
HP:0000054	Micropenis	79087	ALG12	ORPHA:79324
HP:0000054	Micropenis	1717	DHCR7	OMIM:270400
HP:0000054	Micropenis	23116	TOGARAM1	OMIM:619185
HP:0000054	Micropenis	9839	ZEB2	ORPHA:261552
HP:0000054	Micropenis	9839	ZEB2	ORPHA:261537
HP:0000054	Micropenis	84823	LMNB2	OMIM:619180
HP:0000054	Micropenis	23347	SMCHD1	OMIM:603457
HP:0000054	Micropenis	6926	TBX3	OMIM:181450
HP:0000054	Micropenis	9896	FIG4	ORPHA:3472
HP:0000054	Micropenis	9896	FIG4	OMIM:216340
HP:0000054	Micropenis	55697	VAC14	ORPHA:3472
HP:0000054	Micropenis	283987	HID1	OMIM:619983
HP:0000054	Micropenis	1656	DDX6	OMIM:618653
HP:0000054	Micropenis	132158	GLYCTK	OMIM:220120
HP:0000054	Micropenis	80776	B9D2	OMIM:614175
HP:0000054	Micropenis	55148	UBR7	OMIM:619189
HP:0000054	Micropenis	558	AXL	OMIM:146110
HP:0000054	Micropenis	2798	GNRHR	OMIM:146110
HP:0000054	Micropenis	2798	GNRHR	ORPHA:432
HP:0000054	Micropenis	10011	SRA1	OMIM:146110
HP:0000054	Micropenis	55717	WDR11	OMIM:146110
HP:0000054	Micropenis	55717	WDR11	ORPHA:478
HP:0000054	Micropenis	55717	WDR11	ORPHA:432
HP:0000054	Micropenis	8822	FGF17	OMIM:146110
HP:0000054	Micropenis	8822	FGF17	ORPHA:478
HP:0000054	Micropenis	8822	FGF17	ORPHA:432
HP:0000054	Micropenis	1848	DUSP6	OMIM:146110
HP:0000054	Micropenis	1848	DUSP6	ORPHA:478
HP:0000054	Micropenis	1848	DUSP6	ORPHA:432
HP:0000054	Micropenis	81848	SPRY4	OMIM:146110
HP:0000054	Micropenis	81848	SPRY4	ORPHA:478
HP:0000054	Micropenis	81848	SPRY4	ORPHA:432
HP:0000054	Micropenis	285025	CCDC141	OMIM:146110
HP:0000054	Micropenis	285025	CCDC141	ORPHA:478
HP:0000054	Micropenis	389549	FEZF1	OMIM:146110
HP:0000054	Micropenis	389549	FEZF1	OMIM:616030
HP:0000054	Micropenis	389549	FEZF1	ORPHA:478
HP:0000054	Micropenis	79813	EHMT1	OMIM:610253
HP:0000054	Micropenis	1009	CDH11	ORPHA:1299
HP:0000054	Micropenis	1954	MEGF8	OMIM:614976
HP:0000054	Micropenis	2783	GNB2	OMIM:619503
HP:0000054	Micropenis	6662	SOX9	ORPHA:251510
HP:0000054	Micropenis	6845	VAMP7	ORPHA:251510
HP:0000054	Micropenis	51741	WWOX	ORPHA:251510
HP:0000054	Micropenis	4214	MAP3K1	ORPHA:251510
HP:0000054	Micropenis	2516	NR5A1	ORPHA:251510
HP:0000054	Micropenis	2516	NR5A1	OMIM:617480
HP:0000054	Micropenis	7490	WT1	ORPHA:251510
HP:0000054	Micropenis	58524	DMRT3	ORPHA:251510
HP:0000054	Micropenis	57647	DHX37	ORPHA:251510
HP:0000054	Micropenis	6736	SRY	ORPHA:251510
HP:0000054	Micropenis	6736	SRY	ORPHA:1772
HP:0000054	Micropenis	23414	ZFPM2	ORPHA:251510
HP:0000054	Micropenis	190	NR0B1	ORPHA:251510
HP:0000054	Micropenis	2626	GATA4	ORPHA:251510
HP:0000054	Micropenis	1028	CDKN1C	OMIM:614732
HP:0000054	Micropenis	26005	C2CD3	OMIM:615948
HP:0000054	Micropenis	26040	SETBP1	OMIM:269150
HP:0000054	Micropenis	26040	SETBP1	ORPHA:798
HP:0000054	Micropenis	63901	FAM111A	OMIM:602361
HP:0000054	Micropenis	7840	ALMS1	ORPHA:64
HP:0000054	Micropenis	79659	DYNC2H1	OMIM:613091
HP:0000054	Micropenis	253738	EBF3	OMIM:617330
HP:0000054	Micropenis	6905	TBCE	OMIM:241410
HP:0000054	Micropenis	1349	COX7B	OMIM:309801
HP:0000054	Micropenis	3052	HCCS	OMIM:309801
HP:0000054	Micropenis	54539	NDUFB11	OMIM:309801
HP:0000054	Micropenis	8879	SGPL1	OMIM:617575
HP:0000054	Micropenis	80067	DCAF17	ORPHA:3464
HP:0000054	Micropenis	80067	DCAF17	OMIM:241080
HP:0000054	Micropenis	1859	DYRK1A	ORPHA:464311
HP:0000054	Micropenis	1859	DYRK1A	ORPHA:268261
HP:0000054	Micropenis	2736	GLI2	OMIM:610829
HP:0000054	Micropenis	2736	GLI2	OMIM:615849
HP:0000054	Micropenis	10236	HNRNPR	OMIM:620073
HP:0000054	Micropenis	79718	TBL1XR1	OMIM:602342
HP:0000054	Micropenis	5700	PSMC1	OMIM:620071
HP:0000054	Micropenis	79228	THOC6	ORPHA:363444
HP:0000054	Micropenis	11041	B4GAT1	OMIM:615287
HP:0000054	Micropenis	3972	LHB	OMIM:228300
HP:0000054	Micropenis	59336	PRDM13	OMIM:619761
HP:0000054	Micropenis	5591	PRKDC	OMIM:615966
HP:0000054	Micropenis	6925	TCF4	OMIM:610954
HP:0000054	Micropenis	6925	TCF4	ORPHA:2896
HP:0000054	Micropenis	51085	MLXIPL	OMIM:194050
HP:0000054	Micropenis	2006	ELN	OMIM:194050
HP:0000054	Micropenis	3911	LAMA5	OMIM:620076
HP:0000054	Micropenis	2535	FZD2	OMIM:164745
HP:0000054	Micropenis	4920	ROR2	OMIM:268310
HP:0000054	Micropenis	4920	ROR2	OMIM:113000
HP:0000054	Micropenis	63895	PIEZO2	OMIM:248700
HP:0000054	Micropenis	8242	KDM5C	OMIM:300534
HP:0000054	Micropenis	55120	FANCL	OMIM:614083
HP:0000054	Micropenis	9968	MED12	OMIM:300895
HP:0000054	Micropenis	9394	HS6ST1	OMIM:614880
HP:0000054	Micropenis	9394	HS6ST1	ORPHA:478
HP:0000054	Micropenis	9394	HS6ST1	ORPHA:432
HP:0000054	Micropenis	10661	KLF1	OMIM:613673
HP:0000054	Micropenis	546	ATRX	OMIM:309580
HP:0000054	Micropenis	546	ATRX	OMIM:301040
HP:0000054	Micropenis	701	BUB1B	OMIM:257300
HP:0000054	Micropenis	3730	ANOS1	OMIM:308700
HP:0000054	Micropenis	3730	ANOS1	ORPHA:478
HP:0000054	Micropenis	5781	PTPN11	OMIM:151100
HP:0000054	Micropenis	54101	RIPK4	OMIM:263650
HP:0000054	Micropenis	129880	BBS5	OMIM:615983
HP:0000054	Micropenis	27152	INTU	OMIM:617925
HP:0000054	Micropenis	27152	INTU	OMIM:617926
HP:0000054	Micropenis	5426	POLE	OMIM:618336
HP:0000054	Micropenis	7319	UBE2A	ORPHA:163956
HP:0000054	Micropenis	7319	UBE2A	OMIM:300860
HP:0000054	Micropenis	10371	SEMA3A	OMIM:614897
HP:0000054	Micropenis	10371	SEMA3A	ORPHA:478
HP:0000054	Micropenis	10535	RNASEH2A	ORPHA:51
HP:0000054	Micropenis	84153	RNASEH2C	ORPHA:51
HP:0000054	Micropenis	25939	SAMHD1	ORPHA:51
HP:0000054	Micropenis	79621	RNASEH2B	ORPHA:51
HP:0000054	Micropenis	103	ADAR	ORPHA:51
HP:0000054	Micropenis	11277	TREX1	ORPHA:51
HP:0000054	Micropenis	100147744	RNU7-1	ORPHA:51
HP:0000054	Micropenis	100147744	RNU7-1	OMIM:619487
HP:0000054	Micropenis	134353	LSM11	ORPHA:51
HP:0000054	Micropenis	64135	IFIH1	ORPHA:51
HP:0000054	Micropenis	6792	CDKL5	ORPHA:1934
HP:0000054	Micropenis	3736	KCNA1	ORPHA:1934
HP:0000054	Micropenis	9091	PIGQ	ORPHA:1934
HP:0000054	Micropenis	2775	GNAO1	ORPHA:1934
HP:0000054	Micropenis	81603	TRIM8	ORPHA:1934
HP:0000054	Micropenis	2902	GRIN1	ORPHA:1934
HP:0000054	Micropenis	79751	SLC25A22	ORPHA:1934
HP:0000054	Micropenis	150094	SIK1	ORPHA:1934
HP:0000054	Micropenis	8573	CASK	ORPHA:1934
HP:0000054	Micropenis	23312	DMXL2	ORPHA:1934
HP:0000054	Micropenis	2917	GRM7	ORPHA:1934
HP:0000054	Micropenis	11284	PNKP	ORPHA:1934
HP:0000054	Micropenis	6326	SCN2A	ORPHA:1934
HP:0000054	Micropenis	51227	PIGP	ORPHA:1934
HP:0000054	Micropenis	6324	SCN1B	ORPHA:1934
HP:0000054	Micropenis	4761	NEUROD2	ORPHA:1934
HP:0000054	Micropenis	2260	FGFR1	ORPHA:478
HP:0000054	Micropenis	2260	FGFR1	ORPHA:432
HP:0000054	Micropenis	2260	FGFR1	OMIM:147950
HP:0000054	Micropenis	2260	FGFR1	OMIM:615465
HP:0000054	Micropenis	23767	FLRT3	ORPHA:478
HP:0000054	Micropenis	79625	NDNF	ORPHA:478
HP:0000054	Micropenis	79625	NDNF	OMIM:618841
HP:0000054	Micropenis	2253	FGF8	ORPHA:478
HP:0000054	Micropenis	2253	FGF8	ORPHA:432
HP:0000054	Micropenis	2253	FGF8	OMIM:612702
HP:0000054	Micropenis	1630	DCC	ORPHA:478
HP:0000054	Micropenis	54756	IL17RD	ORPHA:478
HP:0000054	Micropenis	6663	SOX10	ORPHA:478
HP:0000054	Micropenis	60675	PROK2	ORPHA:478
HP:0000054	Micropenis	60675	PROK2	ORPHA:432
HP:0000054	Micropenis	60675	PROK2	OMIM:610628
HP:0000054	Micropenis	8820	HESX1	ORPHA:478
HP:0000054	Micropenis	10075	HUWE1	OMIM:309590
HP:0000054	Micropenis	2737	GLI3	ORPHA:672
HP:0000054	Micropenis	2737	GLI3	OMIM:146510
HP:0000054	Micropenis	2074	ERCC6	OMIM:133540
HP:0000054	Micropenis	6866	TAC3	ORPHA:432
HP:0000054	Micropenis	3814	KISS1	ORPHA:432
HP:0000054	Micropenis	10466	COG5	ORPHA:263487
HP:0000054	Micropenis	56896	DPYSL5	OMIM:619435
HP:0000054	Micropenis	2187	FANCB	OMIM:300514
HP:0000054	Micropenis	100151683	RNU4ATAC	OMIM:210710
HP:0000054	Micropenis	54585	LZTFL1	OMIM:615994
HP:0000054	Micropenis	23314	SATB2	ORPHA:251028
HP:0000054	Micropenis	8626	TP63	OMIM:604292
HP:0000054	Micropenis	8626	TP63	OMIM:106260
HP:0000054	Micropenis	7681	MKRN3	OMIM:176270
HP:0000054	Micropenis	3653	IPW	OMIM:176270
HP:0000054	Micropenis	54551	MAGEL2	OMIM:176270
HP:0000054	Micropenis	54551	MAGEL2	ORPHA:398069
HP:0000054	Micropenis	54551	MAGEL2	OMIM:615547
HP:0000054	Micropenis	791114	PWRN1	OMIM:176270
HP:0000054	Micropenis	100033413	SNORD116-1	OMIM:176270
HP:0000054	Micropenis	8924	HERC2	OMIM:176270
HP:0000054	Micropenis	145624	PWAR1	OMIM:176270
HP:0000054	Micropenis	23742	NPAP1	OMIM:176270
HP:0000054	Micropenis	338433	SNORD115-1	OMIM:176270
HP:0000054	Micropenis	3981	LIG4	OMIM:606593
HP:0000054	Micropenis	55593	OTUD5	OMIM:301056
HP:0000054	Micropenis	55315	SLC29A3	OMIM:602782
HP:0000054	Micropenis	55315	SLC29A3	ORPHA:168569
HP:0000054	Micropenis	55869	HDAC8	OMIM:300882
HP:0000054	Micropenis	117581	TWIST2	OMIM:200110
HP:0000054	Micropenis	113179	ADAT3	ORPHA:363528
HP:0000054	Micropenis	8882	ZPR1	OMIM:619321
HP:0000054	Micropenis	84162	BLTP1	OMIM:617822
HP:0000054	Micropenis	6492	SIM1	ORPHA:398079
HP:0000054	Micropenis	55784	MCTP2	ORPHA:1596
HP:0000054	Micropenis	1363	CPE	OMIM:619326
HP:0000054	Micropenis	2068	ERCC2	OMIM:610756
HP:0000054	Micropenis	29925	GMPPB	ORPHA:370968
HP:0000054	Micropenis	79147	FKRP	ORPHA:370968
HP:0000054	Micropenis	29954	POMT2	ORPHA:370968
HP:0000054	Micropenis	29954	POMT2	OMIM:613156
HP:0000054	Micropenis	9215	LARGE1	ORPHA:370968
HP:0000054	Micropenis	10585	POMT1	ORPHA:370968
HP:0000054	Micropenis	55777	MBD5	OMIM:156200
HP:0000054	Micropenis	8925	HERC1	ORPHA:457359
HP:0000054	Micropenis	51132	RLIM	OMIM:300978
HP:0000054	Micropenis	4998	ORC1	OMIM:224690
HP:0000054	Micropenis	7874	USP7	OMIM:616863
HP:0000054	Micropenis	7874	USP7	ORPHA:500055
HP:0000054	Micropenis	1108	CHD4	OMIM:617159
HP:0000054	Micropenis	1000	CDH2	OMIM:618929
HP:0000054	Micropenis	80311	KLHL15	OMIM:300982
HP:0000054	Micropenis	10908	PNPLA6	OMIM:245800
HP:0000054	Micropenis	1641	DCX	OMIM:300067
HP:0000054	Micropenis	372	ARCN1	OMIM:617164
HP:0000054	Micropenis	7317	UBA1	OMIM:301830
HP:0000054	Micropenis	5277	PIGA	OMIM:300868
HP:0000054	Micropenis	128637	TBC1D20	OMIM:615663
HP:0000054	Micropenis	55210	ATAD3A	OMIM:618810
HP:0000054	Micropenis	79633	FAT4	OMIM:615546
HP:0000054	Micropenis	57187	THOC2	ORPHA:457240
HP:0000054	Micropenis	4990	SIX6	OMIM:206900
HP:0000054	Micropenis	6657	SOX2	OMIM:206900
HP:0000054	Micropenis	23594	ORC6	OMIM:613803
HP:0000054	Micropenis	990	CDC6	OMIM:613805
HP:0000054	Micropenis	60	ACTB	OMIM:243310
HP:0000054	Micropenis	26160	IFT172	OMIM:619471
HP:0000054	Micropenis	9851	KIAA0753	OMIM:619479
HP:0000054	Micropenis	2892	GRIA3	ORPHA:364028
HP:0000054	Micropenis	348180	CTU2	OMIM:618142
HP:0000054	Micropenis	340419	RSPO2	OMIM:618021
HP:0000054	Micropenis	7737	RNF113A	OMIM:300953
HP:0000054	Micropenis	6711	SPTBN1	OMIM:619475
HP:0000054	Micropenis	22931	RAB18	OMIM:614222
HP:0000054	Micropenis	95681	CEP41	OMIM:614464
HP:0000054	Micropenis	29957	SLC25A24	OMIM:612289
HP:0000054	Micropenis	4659	PPP1R12A	OMIM:618820
HP:0000054	Micropenis	6608	SMO	OMIM:241800
HP:0000054	Micropenis	80152	CENPT	OMIM:618702
HP:0000054	Micropenis	80036	TRPM3	OMIM:620224
HP:0000054	Micropenis	2132	EXT2	ORPHA:52022
HP:0000054	Micropenis	60529	ALX4	ORPHA:52022
HP:0000054	Micropenis	51317	PHF21A	ORPHA:52022
HP:0000054	Micropenis	8567	MADD	OMIM:619004
HP:0000054	Micropenis	8567	MADD	OMIM:619005
HP:0000054	Micropenis	8318	CDC45	OMIM:617063
HP:0000054	Micropenis	1857	DVL3	OMIM:616894
HP:0000054	Micropenis	202018	TAPT1	OMIM:616897
HP:0000054	Micropenis	745	MYRF	OMIM:618280
HP:0000054	Micropenis	3284	HSD3B2	OMIM:201810
HP:0000054	Micropenis	2177	FANCD2	OMIM:227646
HP:0000054	Micropenis	84295	PHF6	OMIM:301900
HP:0000054	Micropenis	4047	LSS	OMIM:618840
HP:0000054	Micropenis	23247	KATNIP	OMIM:616784
HP:0000054	Micropenis	7518	XRCC4	OMIM:616541
HP:0000054	Micropenis	9786	KIAA0586	OMIM:616546
HP:0000054	Micropenis	5718	PSMD12	OMIM:617516
HP:0000054	Micropenis	1968	EIF2S3	ORPHA:85282
HP:0000054	Micropenis	1968	EIF2S3	OMIM:300148
HP:0000054	Micropenis	6261	RYR1	ORPHA:98905
HP:0000054	Micropenis	7474	WNT5A	OMIM:180700
HP:0000054	Micropenis	9562	MINPP1	ORPHA:284339
HP:0000054	Micropenis	5087	PBX1	OMIM:617641
HP:0000054	Micropenis	523	ATP6V1A	OMIM:617403
HP:0000054	Micropenis	529	ATP6V1E1	OMIM:617402
HP:0000054	Micropenis	8085	KMT2D	OMIM:147920
HP:0000054	Micropenis	7403	KDM6A	OMIM:147920
HP:0000039	Epispadias	5566	PRKACA	ORPHA:289
HP:0000039	Epispadias	5567	PRKACB	ORPHA:289
HP:0000039	Epispadias	2735	GLI1	ORPHA:289
HP:0000039	Epispadias	2121	EVC	ORPHA:289
HP:0000039	Epispadias	2121	EVC	OMIM:225500
HP:0000039	Epispadias	51626	DYNC2LI1	ORPHA:289
HP:0000039	Epispadias	132884	EVC2	ORPHA:289
HP:0000039	Epispadias	132884	EVC2	OMIM:225500
HP:0000039	Epispadias	29123	ANKRD11	OMIM:148050
HP:0000039	Epispadias	26005	C2CD3	ORPHA:434179
HP:0000039	Epispadias	26005	C2CD3	OMIM:615948
HP:0000039	Epispadias	1857	DVL3	ORPHA:3107
HP:0000039	Epispadias	7474	WNT5A	ORPHA:3107
HP:0000039	Epispadias	1855	DVL1	ORPHA:3107
HP:0000039	Epispadias	2535	FZD2	ORPHA:3107
HP:0000039	Epispadias	3845	KRAS	ORPHA:3339
HP:0000039	Epispadias	9791	PTDSS1	ORPHA:2658
HP:0000039	Epispadias	6736	SRY	ORPHA:1772
HP:0000039	Epispadias	63895	PIEZO2	ORPHA:2461
HP:0000039	Epispadias	8626	TP63	ORPHA:93930
HP:0000039	Epispadias	3670	ISL1	ORPHA:93930
HP:0000039	Epispadias	81620	CDT1	ORPHA:2554
HP:0000039	Epispadias	5000	ORC4	ORPHA:2554
HP:0000039	Epispadias	23594	ORC6	ORPHA:2554
HP:0000039	Epispadias	8318	CDC45	ORPHA:2554
HP:0000039	Epispadias	990	CDC6	ORPHA:2554
HP:0000039	Epispadias	4998	ORC1	ORPHA:2554
HP:0000039	Epispadias	51053	GMNN	ORPHA:2554
HP:0000039	Epispadias	4089	SMAD4	ORPHA:2588
HP:0000039	Epispadias	54539	NDUFB11	ORPHA:2556
HP:0000039	Epispadias	1349	COX7B	ORPHA:2556
HP:0000039	Epispadias	3052	HCCS	ORPHA:2556
HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	8200	GDF5	ORPHA:93384
HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	415	ARSL	ORPHA:79345
HP:0030688	Increased glucagon level	2642	GCGR	OMIM:619290
HP:0030688	Increased glucagon level	2642	GCGR	ORPHA:438274
HP:0030688	Increased glucagon level	1027	CDKN1B	ORPHA:276152
HP:0030687	Abnormal glucagon level	2642	GCGR	OMIM:619290
HP:0030687	Abnormal glucagon level	2642	GCGR	ORPHA:438274
HP:0030687	Abnormal glucagon level	1027	CDKN1B	ORPHA:276152
HP:0030685	Decreased adiponectin level	63924	CIDEC	ORPHA:435651
HP:0030685	Decreased adiponectin level	63924	CIDEC	OMIM:615238
HP:0030685	Decreased adiponectin level	3991	LIPE	ORPHA:435660
HP:0030685	Decreased adiponectin level	4000	LMNA	ORPHA:280365
HP:0030685	Decreased adiponectin level	208	AKT2	ORPHA:79085
HP:0030684	Abnormal adiponectin level	63924	CIDEC	ORPHA:435651
HP:0030684	Abnormal adiponectin level	63924	CIDEC	OMIM:615238
HP:0030684	Abnormal adiponectin level	3991	LIPE	ORPHA:435660
HP:0030684	Abnormal adiponectin level	4000	LMNA	ORPHA:280365
HP:0030684	Abnormal adiponectin level	208	AKT2	ORPHA:79085
HP:0007201	Cerebral artery atherosclerosis	3949	LDLR	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	338	APOB	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0007204	Diffuse white matter abnormalities	5654	HTRA1	OMIM:600142
HP:0007204	Diffuse white matter abnormalities	29925	GMPPB	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	79147	FKRP	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	29954	POMT2	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	84197	POMK	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	55624	POMGNT1	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	10585	POMT1	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	8925	HERC1	ORPHA:457359
HP:0007204	Diffuse white matter abnormalities	54453	RIN2	OMIM:613075
HP:0007204	Diffuse white matter abnormalities	64857	PLEKHG2	OMIM:616763
HP:0007204	Diffuse white matter abnormalities	55823	VPS11	ORPHA:466934
HP:0007204	Diffuse white matter abnormalities	92609	TIMM50	ORPHA:505216
HP:0007204	Diffuse white matter abnormalities	220296	HEPACAM	OMIM:613925
HP:0007204	Diffuse white matter abnormalities	220296	HEPACAM	OMIM:613926
HP:0007204	Diffuse white matter abnormalities	2720	GLB1	ORPHA:79255
HP:0007204	Diffuse white matter abnormalities	6792	CDKL5	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	3736	KCNA1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	9091	PIGQ	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2775	GNAO1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	81603	TRIM8	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2902	GRIN1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2902	GRIN1	ORPHA:208447
HP:0007204	Diffuse white matter abnormalities	79751	SLC25A22	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	150094	SIK1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	8573	CASK	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	23312	DMXL2	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2917	GRM7	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	170302	ARX	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	11284	PNKP	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	6326	SCN2A	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	51227	PIGP	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	6324	SCN1B	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	4761	NEUROD2	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	9990	SLC12A6	OMIM:218000
HP:0007204	Diffuse white matter abnormalities	28962	OSTM1	OMIM:259720
HP:0007204	Diffuse white matter abnormalities	25915	NDUFAF3	ORPHA:70474
HP:0007204	Diffuse white matter abnormalities	4714	NDUFB8	ORPHA:70474
HP:0007204	Diffuse white matter abnormalities	4720	NDUFS2	ORPHA:70474
HP:0007204	Diffuse white matter abnormalities	9997	SCO2	ORPHA:70474
HP:0007204	Diffuse white matter abnormalities	6834	SURF1	ORPHA:70474
HP:0007204	Diffuse white matter abnormalities	5354	PLP1	ORPHA:280210
HP:0007204	Diffuse white matter abnormalities	5354	PLP1	ORPHA:280219
HP:0000040	Long penis	157570	ESCO2	OMIM:268300
HP:0000040	Long penis	157570	ESCO2	ORPHA:3103
HP:0000040	Long penis	3643	INSR	OMIM:262190
HP:0000040	Long penis	3643	INSR	OMIM:246200
HP:0000040	Long penis	3643	INSR	ORPHA:508
HP:0000040	Long penis	3643	INSR	ORPHA:769
HP:0000040	Long penis	1584	CYP11B1	OMIM:202010
HP:0000040	Long penis	1584	CYP11B1	ORPHA:90795
HP:0000040	Long penis	3756	KCNH1	OMIM:135500
HP:0000040	Long penis	2260	FGFR1	OMIM:190440
HP:0000040	Long penis	3973	LHCGR	ORPHA:3000
HP:0000040	Long penis	11128	POLR3A	OMIM:264090
HP:0000040	Long penis	83550	GPR101	ORPHA:963
HP:0000040	Long penis	9049	AIP	ORPHA:963
HP:0000040	Long penis	5728	PTEN	ORPHA:744
HP:0000040	Long penis	207	AKT1	ORPHA:744
HP:0000041	Chordee	9839	ZEB2	ORPHA:261537
HP:0000041	Chordee	9839	ZEB2	ORPHA:261552
HP:0000041	Chordee	9791	PTDSS1	OMIM:151050
HP:0000041	Chordee	5447	POR	OMIM:201750
HP:0000041	Chordee	374879	ZNF699	OMIM:619488
HP:0000041	Chordee	23028	KDM1A	ORPHA:477993
HP:0000041	Chordee	23028	KDM1A	OMIM:616728
HP:0000041	Chordee	7750	ZMYM2	OMIM:619522
HP:0000041	Chordee	9578	CDC42BPB	OMIM:619841
HP:0000041	Chordee	1349	COX7B	OMIM:309801
HP:0000041	Chordee	3052	HCCS	OMIM:309801
HP:0000041	Chordee	54539	NDUFB11	OMIM:309801
HP:0000041	Chordee	1859	DYRK1A	ORPHA:268261
HP:0000041	Chordee	833	CARS1	OMIM:618891
HP:0000041	Chordee	2260	FGFR1	OMIM:166250
HP:0000041	Chordee	4214	MAP3K1	OMIM:613762
HP:0000041	Chordee	6736	SRY	ORPHA:1772
HP:0000041	Chordee	4659	PPP1R12A	OMIM:618820
HP:0000041	Chordee	3209	HOXA13	OMIM:140000
HP:0000042	Absent external genitalia	1009	CDH11	ORPHA:1299
HP:0000042	Absent external genitalia	7473	WNT3	OMIM:273395
HP:0000042	Absent external genitalia	54101	RIPK4	OMIM:263650
HP:0000045	Abnormality of the scrotum	3481	IGF2	ORPHA:397590
HP:0000045	Abnormality of the scrotum	1028	CDKN1C	ORPHA:397590
HP:0000045	Abnormality of the scrotum	5324	PLAG1	ORPHA:397590
HP:0000045	Abnormality of the scrotum	8091	HMGA2	ORPHA:397590
HP:0000045	Abnormality of the scrotum	60	ACTB	ORPHA:64755
HP:0000045	Abnormality of the scrotum	6845	VAMP7	ORPHA:251510
HP:0000045	Abnormality of the scrotum	51741	WWOX	ORPHA:251510
HP:0000045	Abnormality of the scrotum	4214	MAP3K1	ORPHA:251510
HP:0000045	Abnormality of the scrotum	7490	WT1	ORPHA:251510
HP:0000045	Abnormality of the scrotum	58524	DMRT3	ORPHA:251510
HP:0000045	Abnormality of the scrotum	57647	DHX37	ORPHA:251510
HP:0000045	Abnormality of the scrotum	23414	ZFPM2	ORPHA:251510
HP:0000045	Abnormality of the scrotum	190	NR0B1	ORPHA:251510
HP:0000045	Abnormality of the scrotum	2626	GATA4	ORPHA:251510
HP:0000045	Abnormality of the scrotum	2737	GLI3	ORPHA:672
HP:0000045	Abnormality of the scrotum	341640	FREM2	ORPHA:2052
HP:0000045	Abnormality of the scrotum	80144	FRAS1	ORPHA:2052
HP:0000045	Abnormality of the scrotum	23426	GRIP1	ORPHA:2052
HP:0000045	Abnormality of the scrotum	23426	GRIP1	OMIM:617667
HP:0000045	Abnormality of the scrotum	5447	POR	OMIM:201750
HP:0000045	Abnormality of the scrotum	6662	SOX9	ORPHA:2138
HP:0000045	Abnormality of the scrotum	2516	NR5A1	ORPHA:2138
HP:0000045	Abnormality of the scrotum	6736	SRY	ORPHA:2138
HP:0000045	Abnormality of the scrotum	25782	RAB3GAP2	OMIM:614225
HP:0000045	Abnormality of the scrotum	201595	STT3B	OMIM:615597
HP:0000045	Abnormality of the scrotum	201595	STT3B	ORPHA:370924
HP:0000045	Abnormality of the scrotum	22931	RAB18	OMIM:614222
HP:0000045	Abnormality of the scrotum	29957	SLC25A24	OMIM:612289
HP:0000045	Abnormality of the scrotum	10056	FARSB	OMIM:613658
HP:0000045	Abnormality of the scrotum	7681	MKRN3	OMIM:176270
HP:0000045	Abnormality of the scrotum	3653	IPW	OMIM:176270
HP:0000045	Abnormality of the scrotum	54551	MAGEL2	OMIM:176270
HP:0000045	Abnormality of the scrotum	54551	MAGEL2	ORPHA:98754
HP:0000045	Abnormality of the scrotum	54551	MAGEL2	ORPHA:177904
HP:0000045	Abnormality of the scrotum	54551	MAGEL2	ORPHA:177901
HP:0000045	Abnormality of the scrotum	54551	MAGEL2	ORPHA:398069
HP:0000045	Abnormality of the scrotum	791114	PWRN1	OMIM:176270
HP:0000045	Abnormality of the scrotum	100033413	SNORD116-1	OMIM:176270
HP:0000045	Abnormality of the scrotum	8924	HERC2	OMIM:176270
HP:0000045	Abnormality of the scrotum	145624	PWAR1	OMIM:176270
HP:0000045	Abnormality of the scrotum	23742	NPAP1	OMIM:176270
HP:0000045	Abnormality of the scrotum	338433	SNORD115-1	OMIM:176270
HP:0000045	Abnormality of the scrotum	84172	POLR1B	ORPHA:861
HP:0000045	Abnormality of the scrotum	9533	POLR1C	ORPHA:861
HP:0000045	Abnormality of the scrotum	51082	POLR1D	ORPHA:861
HP:0000045	Abnormality of the scrotum	6949	TCOF1	ORPHA:861
HP:0000045	Abnormality of the scrotum	4983	OPHN1	OMIM:300486
HP:0000045	Abnormality of the scrotum	51124	IER3IP1	OMIM:614231
HP:0000045	Abnormality of the scrotum	23522	KAT6B	ORPHA:85201
HP:0000045	Abnormality of the scrotum	23522	KAT6B	OMIM:606170
HP:0000045	Abnormality of the scrotum	3664	IRF6	OMIM:119500
HP:0000045	Abnormality of the scrotum	3664	IRF6	ORPHA:1300
HP:0000045	Abnormality of the scrotum	84162	BLTP1	OMIM:617822
HP:0000045	Abnormality of the scrotum	4010	LMX1B	ORPHA:495818
HP:0000045	Abnormality of the scrotum	6812	STXBP1	ORPHA:495818
HP:0000045	Abnormality of the scrotum	6492	SIM1	ORPHA:398079
HP:0000045	Abnormality of the scrotum	22858	CILK1	OMIM:612651
HP:0000045	Abnormality of the scrotum	6595	SMARCA2	ORPHA:2728
HP:0000045	Abnormality of the scrotum	10982	MAPRE2	OMIM:616734
HP:0000045	Abnormality of the scrotum	10982	MAPRE2	ORPHA:2505
HP:0000045	Abnormality of the scrotum	5818	NECTIN1	ORPHA:3253
HP:0000045	Abnormality of the scrotum	2068	ERCC2	OMIM:610756
HP:0000045	Abnormality of the scrotum	6638	SNRPN	ORPHA:98754
HP:0000045	Abnormality of the scrotum	6638	SNRPN	ORPHA:177904
HP:0000045	Abnormality of the scrotum	6638	SNRPN	ORPHA:177901
HP:0000045	Abnormality of the scrotum	4692	NDN	ORPHA:98754
HP:0000045	Abnormality of the scrotum	4692	NDN	ORPHA:177904
HP:0000045	Abnormality of the scrotum	4692	NDN	ORPHA:177901
HP:0000045	Abnormality of the scrotum	4948	OCA2	ORPHA:98754
HP:0000045	Abnormality of the scrotum	4948	OCA2	ORPHA:177904
HP:0000045	Abnormality of the scrotum	4948	OCA2	ORPHA:177901
HP:0000045	Abnormality of the scrotum	3703	STT3A	ORPHA:370921
HP:0000045	Abnormality of the scrotum	7259	TSPYL1	ORPHA:168593
HP:0000045	Abnormality of the scrotum	9968	MED12	OMIM:300895
HP:0000045	Abnormality of the scrotum	546	ATRX	OMIM:309580
HP:0000045	Abnormality of the scrotum	6261	RYR1	ORPHA:98905
HP:0000045	Abnormality of the scrotum	7476	WNT7A	OMIM:276820
HP:0000045	Abnormality of the scrotum	4621	MYH3	ORPHA:2990
HP:0000045	Abnormality of the scrotum	1146	CHRNG	ORPHA:2990
HP:0000045	Abnormality of the scrotum	84295	PHF6	ORPHA:127
HP:0000045	Abnormality of the scrotum	79087	ALG12	OMIM:607143
HP:0000045	Abnormality of the scrotum	1717	DHCR7	OMIM:270400
HP:0000045	Abnormality of the scrotum	3730	ANOS1	OMIM:308700
HP:0000045	Abnormality of the scrotum	10908	PNPLA6	OMIM:245800
HP:0000045	Abnormality of the scrotum	6926	TBX3	OMIM:181450
HP:0000045	Abnormality of the scrotum	652	BMP4	OMIM:607932
HP:0000045	Abnormality of the scrotum	8295	TRRAP	OMIM:618454
HP:0000045	Abnormality of the scrotum	372	ARCN1	OMIM:617164
HP:0000045	Abnormality of the scrotum	60529	ALX4	ORPHA:228390
HP:0000045	Abnormality of the scrotum	128637	TBC1D20	OMIM:615663
HP:0000045	Abnormality of the scrotum	203068	TUBB	ORPHA:2505
HP:0000045	Abnormality of the scrotum	26040	SETBP1	OMIM:269150
HP:0000045	Abnormality of the scrotum	23594	ORC6	OMIM:613803
HP:0000045	Abnormality of the scrotum	6716	SRD5A2	ORPHA:753
HP:0000045	Abnormality of the scrotum	10046	MAMLD1	ORPHA:456328
HP:0000045	Abnormality of the scrotum	10046	MAMLD1	ORPHA:95706
HP:0000045	Abnormality of the scrotum	4534	MTM1	ORPHA:456328
HP:0000045	Abnormality of the scrotum	6711	SPTBN1	OMIM:619475
HP:0000045	Abnormality of the scrotum	367	AR	OMIM:312300
HP:0000045	Abnormality of the scrotum	367	AR	ORPHA:90797
HP:0000045	Abnormality of the scrotum	367	AR	ORPHA:95706
HP:0000045	Abnormality of the scrotum	3209	HOXA13	OMIM:140000
HP:0000045	Abnormality of the scrotum	9839	ZEB2	OMIM:235730
HP:0000045	Abnormality of the scrotum	9839	ZEB2	ORPHA:261537
HP:0000045	Abnormality of the scrotum	9839	ZEB2	ORPHA:261552
HP:0000045	Abnormality of the scrotum	6299	SALL1	OMIM:107480
HP:0000045	Abnormality of the scrotum	6299	SALL1	ORPHA:857
HP:0000045	Abnormality of the scrotum	3110	MNX1	ORPHA:1552
HP:0000045	Abnormality of the scrotum	51339	DACT1	ORPHA:857
HP:0000045	Abnormality of the scrotum	26128	KIFBP	ORPHA:66629
HP:0000045	Abnormality of the scrotum	55636	CHD7	ORPHA:138
HP:0000045	Abnormality of the scrotum	9723	SEMA3E	ORPHA:138
HP:0000045	Abnormality of the scrotum	1586	CYP17A1	ORPHA:90793
HP:0000045	Abnormality of the scrotum	745	MYRF	OMIM:618280
HP:0000045	Abnormality of the scrotum	10584	COLEC10	OMIM:248340
HP:0000045	Abnormality of the scrotum	1528	CYB5A	OMIM:250790
HP:0000045	Abnormality of the scrotum	1009	CDH11	OMIM:211380
HP:0000045	Abnormality of the scrotum	701	BUB1B	OMIM:257300
HP:0000045	Abnormality of the scrotum	3239	HOXD13	ORPHA:887
HP:0000045	Abnormality of the scrotum	51733	UPB1	OMIM:613161
HP:0000045	Abnormality of the scrotum	2535	FZD2	ORPHA:93328
HP:0000045	Abnormality of the scrotum	4281	MID1	ORPHA:2745
HP:0000045	Abnormality of the scrotum	79633	FAT4	OMIM:615546
HP:0000045	Abnormality of the scrotum	2245	FGD1	OMIM:305400
HP:0000045	Abnormality of the scrotum	2245	FGD1	ORPHA:915
HP:0000045	Abnormality of the scrotum	1947	EFNB1	OMIM:304110
HP:0000045	Abnormality of the scrotum	1947	EFNB1	ORPHA:1520
HP:0000045	Abnormality of the scrotum	51651	PTRH2	OMIM:616263
HP:0000045	Abnormality of the scrotum	51651	PTRH2	ORPHA:456312
HP:0000045	Abnormality of the scrotum	3975	LHX1	ORPHA:261265
HP:0000045	Abnormality of the scrotum	6928	HNF1B	ORPHA:261265
HP:0000045	Abnormality of the scrotum	54809	SAMD9	OMIM:617053
HP:0000045	Abnormality of the scrotum	340533	NEXMIF	ORPHA:85277
HP:0000045	Abnormality of the scrotum	4998	ORC1	OMIM:224690
HP:0000045	Abnormality of the scrotum	1859	DYRK1A	ORPHA:268261
HP:0000045	Abnormality of the scrotum	1387	CREBBP	OMIM:180849
HP:0000045	Abnormality of the scrotum	2033	EP300	OMIM:180849
HP:0000045	Abnormality of the scrotum	5718	PSMD12	OMIM:617516
HP:0000045	Abnormality of the scrotum	54499	TMCO1	OMIM:213980
HP:0000045	Abnormality of the scrotum	9496	TBX4	ORPHA:261279
HP:0000045	Abnormality of the scrotum	23384	SPECC1L	OMIM:145420
HP:0000045	Abnormality of the scrotum	23384	SPECC1L	ORPHA:1519
HP:0000045	Abnormality of the scrotum	1954	MEGF8	OMIM:614976
HP:0000045	Abnormality of the scrotum	117581	TWIST2	ORPHA:1231
HP:0000045	Abnormality of the scrotum	124512	METTL23	OMIM:615942
HP:0000045	Abnormality of the scrotum	3911	LAMA5	OMIM:620076
HP:0000045	Abnormality of the scrotum	2263	FGFR2	ORPHA:1555
HP:0000045	Abnormality of the scrotum	2263	FGFR2	OMIM:123790
HP:0000045	Abnormality of the scrotum	3284	HSD3B2	OMIM:201810
HP:0000045	Abnormality of the scrotum	4081	MAB21L1	OMIM:618479
HP:0000045	Abnormality of the scrotum	56983	POGLUT1	ORPHA:79145
HP:0000045	Abnormality of the scrotum	3852	KRT5	ORPHA:79145
HP:0000045	Abnormality of the scrotum	23509	POFUT1	ORPHA:79145
HP:0000045	Abnormality of the scrotum	55851	PSENEN	ORPHA:79145
HP:0000045	Abnormality of the scrotum	114034	TOE1	ORPHA:284339
HP:0000045	Abnormality of the scrotum	9562	MINPP1	ORPHA:284339
HP:0000045	Abnormality of the scrotum	207	AKT1	OMIM:615109
HP:0000045	Abnormality of the scrotum	5728	PTEN	OMIM:158350
HP:0000045	Abnormality of the scrotum	10847	SRCAP	ORPHA:2044
HP:0000045	Abnormality of the scrotum	10847	SRCAP	OMIM:136140
HP:0000045	Abnormality of the scrotum	2313	FLI1	ORPHA:370348
HP:0000047	Hypospadias	26235	FBXL4	OMIM:615471
HP:0000047	Hypospadias	1947	EFNB1	ORPHA:1520
HP:0000047	Hypospadias	1947	EFNB1	OMIM:304110
HP:0000047	Hypospadias	4204	MECP2	ORPHA:1762
HP:0000047	Hypospadias	4204	MECP2	OMIM:300260
HP:0000047	Hypospadias	6938	TCF12	OMIM:619718
HP:0000047	Hypospadias	9820	CUL7	ORPHA:2616
HP:0000047	Hypospadias	9820	CUL7	OMIM:273750
HP:0000047	Hypospadias	23363	OBSL1	ORPHA:2616
HP:0000047	Hypospadias	83987	CCDC8	ORPHA:2616
HP:0000047	Hypospadias	81857	MED25	OMIM:616449
HP:0000047	Hypospadias	81857	MED25	ORPHA:464738
HP:0000047	Hypospadias	1736	DKC1	OMIM:305000
HP:0000047	Hypospadias	79848	CSPP1	ORPHA:397715
HP:0000047	Hypospadias	9786	KIAA0586	ORPHA:397715
HP:0000047	Hypospadias	197131	UBR1	OMIM:243800
HP:0000047	Hypospadias	197131	UBR1	ORPHA:2315
HP:0000047	Hypospadias	267010	RNU12	OMIM:603116
HP:0000047	Hypospadias	5932	RBBP8	OMIM:606744
HP:0000047	Hypospadias	116931	MED12L	OMIM:618872
HP:0000047	Hypospadias	9578	CDC42BPB	OMIM:619841
HP:0000047	Hypospadias	1528	CYB5A	ORPHA:90796
HP:0000047	Hypospadias	1528	CYB5A	OMIM:250790
HP:0000047	Hypospadias	1586	CYP17A1	ORPHA:90796
HP:0000047	Hypospadias	1586	CYP17A1	ORPHA:90793
HP:0000047	Hypospadias	8239	USP9X	OMIM:300919
HP:0000047	Hypospadias	5189	PEX1	OMIM:214100
HP:0000047	Hypospadias	5189	PEX1	ORPHA:912
HP:0000047	Hypospadias	284058	KANSL1	ORPHA:363958
HP:0000047	Hypospadias	284058	KANSL1	ORPHA:363965
HP:0000047	Hypospadias	4853	NOTCH2	OMIM:102500
HP:0000047	Hypospadias	4853	NOTCH2	ORPHA:955
HP:0000047	Hypospadias	9968	MED12	ORPHA:93932
HP:0000047	Hypospadias	9968	MED12	OMIM:305450
HP:0000047	Hypospadias	7020	TFAP2A	OMIM:113620
HP:0000047	Hypospadias	5566	PRKACA	ORPHA:289
HP:0000047	Hypospadias	5567	PRKACB	ORPHA:289
HP:0000047	Hypospadias	2735	GLI1	ORPHA:289
HP:0000047	Hypospadias	2121	EVC	ORPHA:289
HP:0000047	Hypospadias	2121	EVC	OMIM:225500
HP:0000047	Hypospadias	51626	DYNC2LI1	ORPHA:289
HP:0000047	Hypospadias	132884	EVC2	ORPHA:289
HP:0000047	Hypospadias	132884	EVC2	OMIM:225500
HP:0000047	Hypospadias	1281	COL3A1	ORPHA:286
HP:0000047	Hypospadias	23347	SMCHD1	OMIM:603457
HP:0000047	Hypospadias	10815	CPLX1	ORPHA:280
HP:0000047	Hypospadias	10815	CPLX1	OMIM:194190
HP:0000047	Hypospadias	54872	PIGG	ORPHA:280
HP:0000047	Hypospadias	7469	NELFA	ORPHA:280
HP:0000047	Hypospadias	1487	CTBP1	ORPHA:280
HP:0000047	Hypospadias	1487	CTBP1	OMIM:194190
HP:0000047	Hypospadias	3954	LETM1	ORPHA:280
HP:0000047	Hypospadias	3954	LETM1	OMIM:194190
HP:0000047	Hypospadias	7468	NSD2	ORPHA:280
HP:0000047	Hypospadias	7468	NSD2	OMIM:194190
HP:0000047	Hypospadias	54968	TMEM70	OMIM:614052
HP:0000047	Hypospadias	54968	TMEM70	ORPHA:1194
HP:0000047	Hypospadias	833	CARS1	OMIM:618891
HP:0000047	Hypospadias	80776	B9D2	OMIM:614175
HP:0000047	Hypospadias	57178	ZMIZ1	OMIM:618659
HP:0000047	Hypospadias	8642	DCHS1	OMIM:601390
HP:0000047	Hypospadias	8642	DCHS1	ORPHA:314679
HP:0000047	Hypospadias	26040	SETBP1	OMIM:269150
HP:0000047	Hypospadias	26040	SETBP1	ORPHA:798
HP:0000047	Hypospadias	2316	FLNA	ORPHA:90652
HP:0000047	Hypospadias	2316	FLNA	OMIM:304120
HP:0000047	Hypospadias	3981	LIG4	ORPHA:235
HP:0000047	Hypospadias	54888	NSUN2	ORPHA:235
HP:0000047	Hypospadias	8260	NAA10	OMIM:309800
HP:0000047	Hypospadias	8260	NAA10	ORPHA:568
HP:0000047	Hypospadias	54880	BCOR	OMIM:309800
HP:0000047	Hypospadias	54880	BCOR	ORPHA:568
HP:0000047	Hypospadias	54880	BCOR	OMIM:300166
HP:0000047	Hypospadias	1349	COX7B	OMIM:309801
HP:0000047	Hypospadias	1349	COX7B	ORPHA:2556
HP:0000047	Hypospadias	3052	HCCS	OMIM:309801
HP:0000047	Hypospadias	3052	HCCS	ORPHA:2556
HP:0000047	Hypospadias	54539	NDUFB11	OMIM:309801
HP:0000047	Hypospadias	54539	NDUFB11	ORPHA:2556
HP:0000047	Hypospadias	54914	FOCAD	OMIM:619991
HP:0000047	Hypospadias	8363	H4C11	OMIM:619759
HP:0000047	Hypospadias	5590	PRKCZ	ORPHA:1606
HP:0000047	Hypospadias	2563	GABRD	ORPHA:1606
HP:0000047	Hypospadias	23013	SPEN	ORPHA:1606
HP:0000047	Hypospadias	8510	MMP23B	ORPHA:1606
HP:0000047	Hypospadias	7798	LUZP1	ORPHA:1606
HP:0000047	Hypospadias	6497	SKI	ORPHA:1606
HP:0000047	Hypospadias	10630	PDPN	ORPHA:1606
HP:0000047	Hypospadias	3339	HSPG2	ORPHA:1606
HP:0000047	Hypospadias	10277	UBE4B	ORPHA:1606
HP:0000047	Hypospadias	8514	KCNAB2	ORPHA:1606
HP:0000047	Hypospadias	473	RERE	ORPHA:1606
HP:0000047	Hypospadias	473	RERE	ORPHA:494344
HP:0000047	Hypospadias	473	RERE	OMIM:616975
HP:0000047	Hypospadias	63976	PRDM16	ORPHA:1606
HP:0000047	Hypospadias	54897	CASZ1	ORPHA:1606
HP:0000047	Hypospadias	6134	RPL10	ORPHA:459070
HP:0000047	Hypospadias	6134	RPL10	OMIM:300998
HP:0000047	Hypospadias	6134	RPL10	ORPHA:435938
HP:0000047	Hypospadias	1859	DYRK1A	ORPHA:464311
HP:0000047	Hypospadias	1859	DYRK1A	ORPHA:268261
HP:0000047	Hypospadias	7750	ZMYM2	OMIM:619522
HP:0000047	Hypospadias	51339	DACT1	OMIM:617466
HP:0000047	Hypospadias	51339	DACT1	ORPHA:857
HP:0000047	Hypospadias	9772	TMEM94	OMIM:618316
HP:0000047	Hypospadias	79633	FAT4	ORPHA:314679
HP:0000047	Hypospadias	79633	FAT4	OMIM:615546
HP:0000047	Hypospadias	2239	GPC4	ORPHA:373
HP:0000047	Hypospadias	2239	GPC4	OMIM:312870
HP:0000047	Hypospadias	2719	GPC3	ORPHA:373
HP:0000047	Hypospadias	2719	GPC3	OMIM:312870
HP:0000047	Hypospadias	2260	FGFR1	OMIM:166250
HP:0000047	Hypospadias	2260	FGFR1	OMIM:615465
HP:0000047	Hypospadias	25836	NIPBL	OMIM:122470
HP:0000047	Hypospadias	25836	NIPBL	ORPHA:199
HP:0000047	Hypospadias	9725	TMEM63A	OMIM:618688
HP:0000047	Hypospadias	7476	WNT7A	OMIM:276820
HP:0000047	Hypospadias	54361	WNT4	OMIM:611812
HP:0000047	Hypospadias	54361	WNT4	ORPHA:139466
HP:0000047	Hypospadias	79087	ALG12	ORPHA:79324
HP:0000047	Hypospadias	79087	ALG12	OMIM:607143
HP:0000047	Hypospadias	9896	FIG4	OMIM:216340
HP:0000047	Hypospadias	9896	FIG4	ORPHA:3472
HP:0000047	Hypospadias	6135	RPL11	ORPHA:124
HP:0000047	Hypospadias	6138	RPL15	ORPHA:124
HP:0000047	Hypospadias	6229	RPS24	ORPHA:124
HP:0000047	Hypospadias	6125	RPL5	ORPHA:124
HP:0000047	Hypospadias	6204	RPS10	ORPHA:124
HP:0000047	Hypospadias	6224	RPS20	ORPHA:124
HP:0000047	Hypospadias	6165	RPL35A	ORPHA:124
HP:0000047	Hypospadias	6165	RPL35A	OMIM:612528
HP:0000047	Hypospadias	2623	GATA1	ORPHA:124
HP:0000047	Hypospadias	6223	RPS19	ORPHA:124
HP:0000047	Hypospadias	6232	RPS27	ORPHA:124
HP:0000047	Hypospadias	6231	RPS26	ORPHA:124
HP:0000047	Hypospadias	11224	RPL35	ORPHA:124
HP:0000047	Hypospadias	6160	RPL31	ORPHA:124
HP:0000047	Hypospadias	6218	RPS17	ORPHA:124
HP:0000047	Hypospadias	6201	RPS7	ORPHA:124
HP:0000047	Hypospadias	6155	RPL27	ORPHA:124
HP:0000047	Hypospadias	6154	RPL26	ORPHA:124
HP:0000047	Hypospadias	6210	RPS15A	ORPHA:124
HP:0000047	Hypospadias	90121	TSR2	ORPHA:124
HP:0000047	Hypospadias	6141	RPL18	ORPHA:124
HP:0000047	Hypospadias	6235	RPS29	ORPHA:124
HP:0000047	Hypospadias	6234	RPS28	ORPHA:124
HP:0000047	Hypospadias	51816	ADA2	ORPHA:124
HP:0000047	Hypospadias	57539	WDR35	OMIM:614091
HP:0000047	Hypospadias	1523	CUX1	OMIM:618330
HP:0000047	Hypospadias	5426	POLE	OMIM:618336
HP:0000047	Hypospadias	5426	POLE	ORPHA:85173
HP:0000047	Hypospadias	81603	TRIM8	OMIM:619428
HP:0000047	Hypospadias	2737	GLI3	ORPHA:672
HP:0000047	Hypospadias	2737	GLI3	ORPHA:36
HP:0000047	Hypospadias	2737	GLI3	OMIM:175700
HP:0000047	Hypospadias	2737	GLI3	ORPHA:93322
HP:0000047	Hypospadias	22827	PUF60	ORPHA:508498
HP:0000047	Hypospadias	6477	SIAH1	OMIM:619314
HP:0000047	Hypospadias	8473	OGT	OMIM:300997
HP:0000047	Hypospadias	10765	KDM5B	OMIM:618109
HP:0000047	Hypospadias	5308	PITX2	ORPHA:782
HP:0000047	Hypospadias	5308	PITX2	OMIM:180500
HP:0000047	Hypospadias	2296	FOXC1	ORPHA:782
HP:0000047	Hypospadias	374654	KIF7	ORPHA:36
HP:0000047	Hypospadias	374654	KIF7	OMIM:200990
HP:0000047	Hypospadias	27125	AFF4	ORPHA:444077
HP:0000047	Hypospadias	6299	SALL1	OMIM:107480
HP:0000047	Hypospadias	6299	SALL1	ORPHA:857
HP:0000047	Hypospadias	1387	CREBBP	ORPHA:353281
HP:0000047	Hypospadias	1387	CREBBP	OMIM:180849
HP:0000047	Hypospadias	1387	CREBBP	ORPHA:353277
HP:0000047	Hypospadias	29998	BICRA	OMIM:619325
HP:0000047	Hypospadias	2033	EP300	ORPHA:353284
HP:0000047	Hypospadias	2033	EP300	OMIM:180849
HP:0000047	Hypospadias	26128	KIFBP	ORPHA:66629
HP:0000047	Hypospadias	8626	TP63	OMIM:106260
HP:0000047	Hypospadias	8626	TP63	OMIM:129400
HP:0000047	Hypospadias	8626	TP63	ORPHA:1896
HP:0000047	Hypospadias	3039	HBA1	ORPHA:98791
HP:0000047	Hypospadias	3040	HBA2	ORPHA:98791
HP:0000047	Hypospadias	4703	NEB	OMIM:619334
HP:0000047	Hypospadias	4703	NEB	ORPHA:171430
HP:0000047	Hypospadias	51132	RLIM	OMIM:300978
HP:0000047	Hypospadias	6928	HNF1B	OMIM:137920
HP:0000047	Hypospadias	6928	HNF1B	ORPHA:93111
HP:0000047	Hypospadias	284654	RSPO1	OMIM:610644
HP:0000047	Hypospadias	1312	COMT	ORPHA:567
HP:0000047	Hypospadias	221037	JMJD1C	ORPHA:567
HP:0000047	Hypospadias	2812	GP1BB	ORPHA:567
HP:0000047	Hypospadias	6239	RREB1	ORPHA:567
HP:0000047	Hypospadias	6899	TBX1	ORPHA:567
HP:0000047	Hypospadias	7290	HIRA	ORPHA:567
HP:0000047	Hypospadias	9632	SEC24C	ORPHA:567
HP:0000047	Hypospadias	7353	UFD1	ORPHA:567
HP:0000047	Hypospadias	421	ARVCF	ORPHA:567
HP:0000047	Hypospadias	25942	SIN3A	ORPHA:94065
HP:0000047	Hypospadias	25942	SIN3A	OMIM:613406
HP:0000047	Hypospadias	10524	KAT5	OMIM:619103
HP:0000047	Hypospadias	23522	KAT6B	OMIM:603736
HP:0000047	Hypospadias	7317	UBA1	OMIM:301830
HP:0000047	Hypospadias	8802	SUCLG1	ORPHA:17
HP:0000047	Hypospadias	4700	NDUFA6	OMIM:618253
HP:0000047	Hypospadias	5144	PDE4D	ORPHA:439822
HP:0000047	Hypospadias	5144	PDE4D	OMIM:614613
HP:0000047	Hypospadias	5144	PDE4D	ORPHA:280651
HP:0000047	Hypospadias	2475	MTOR	ORPHA:457485
HP:0000047	Hypospadias	4990	SIX6	OMIM:206900
HP:0000047	Hypospadias	6657	SOX2	OMIM:206900
HP:0000047	Hypospadias	6657	SOX2	ORPHA:77298
HP:0000047	Hypospadias	23594	ORC6	OMIM:613803
HP:0000047	Hypospadias	23594	ORC6	ORPHA:2554
HP:0000047	Hypospadias	9791	PTDSS1	OMIM:151050
HP:0000047	Hypospadias	9791	PTDSS1	ORPHA:2658
HP:0000047	Hypospadias	6611	SMS	ORPHA:3063
HP:0000047	Hypospadias	54809	SAMD9	OMIM:617053
HP:0000047	Hypospadias	9851	KIAA0753	OMIM:619479
HP:0000047	Hypospadias	145173	B3GLCT	OMIM:261540
HP:0000047	Hypospadias	145173	B3GLCT	ORPHA:709
HP:0000047	Hypospadias	6711	SPTBN1	OMIM:619475
HP:0000047	Hypospadias	5781	PTPN11	ORPHA:500
HP:0000047	Hypospadias	5781	PTPN11	OMIM:151100
HP:0000047	Hypospadias	5781	PTPN11	OMIM:163950
HP:0000047	Hypospadias	673	BRAF	ORPHA:500
HP:0000047	Hypospadias	673	BRAF	OMIM:163950
HP:0000047	Hypospadias	5894	RAF1	ORPHA:500
HP:0000047	Hypospadias	2887	GRB10	ORPHA:96182
HP:0000047	Hypospadias	51360	MBTPS2	OMIM:308205
HP:0000047	Hypospadias	2222	FDFT1	OMIM:618156
HP:0000047	Hypospadias	374879	ZNF699	OMIM:619488
HP:0000047	Hypospadias	8318	CDC45	OMIM:617063
HP:0000047	Hypospadias	8318	CDC45	ORPHA:2554
HP:0000047	Hypospadias	1028	CDKN1C	ORPHA:85173
HP:0000047	Hypospadias	1028	CDKN1C	OMIM:614732
HP:0000047	Hypospadias	1028	CDKN1C	ORPHA:397590
HP:0000047	Hypospadias	22995	CEP152	OMIM:613823
HP:0000047	Hypospadias	10084	PQBP1	OMIM:309500
HP:0000047	Hypospadias	6748	SSR4	OMIM:300934
HP:0000047	Hypospadias	219844	HYLS1	OMIM:236680
HP:0000047	Hypospadias	3239	HOXD13	ORPHA:887
HP:0000047	Hypospadias	9897	WASHC5	ORPHA:7
HP:0000047	Hypospadias	9897	WASHC5	OMIM:220210
HP:0000047	Hypospadias	28952	CCDC22	ORPHA:7
HP:0000047	Hypospadias	55181	SMG8	OMIM:619268
HP:0000047	Hypospadias	3735	KARS1	OMIM:619147
HP:0000047	Hypospadias	4713	NDUFB7	OMIM:620135
HP:0000047	Hypospadias	4702	NDUFA8	OMIM:619272
HP:0000047	Hypospadias	10128	LRPPRC	OMIM:220111
HP:0000047	Hypospadias	2294	FOXF1	OMIM:265380
HP:0000047	Hypospadias	8450	CUL4B	OMIM:300354
HP:0000047	Hypospadias	6770	STAR	OMIM:201710
HP:0000047	Hypospadias	341640	FREM2	ORPHA:2052
HP:0000047	Hypospadias	80144	FRAS1	ORPHA:2052
HP:0000047	Hypospadias	80144	FRAS1	OMIM:219000
HP:0000047	Hypospadias	23426	GRIP1	ORPHA:2052
HP:0000047	Hypospadias	23556	PIGN	ORPHA:2059
HP:0000047	Hypospadias	9839	ZEB2	OMIM:235730
HP:0000047	Hypospadias	9839	ZEB2	ORPHA:261552
HP:0000047	Hypospadias	9839	ZEB2	ORPHA:261537
HP:0000047	Hypospadias	64324	NSD1	ORPHA:821
HP:0000047	Hypospadias	29072	SETD2	ORPHA:821
HP:0000047	Hypospadias	10297	APC2	ORPHA:821
HP:0000047	Hypospadias	5447	POR	ORPHA:95699
HP:0000047	Hypospadias	5447	POR	OMIM:201750
HP:0000047	Hypospadias	4281	MID1	OMIM:300000
HP:0000047	Hypospadias	4281	MID1	ORPHA:2745
HP:0000047	Hypospadias	170302	ARX	OMIM:300004
HP:0000047	Hypospadias	170302	ARX	ORPHA:2508
HP:0000047	Hypospadias	58	ACTA1	ORPHA:171430
HP:0000047	Hypospadias	131377	KLHL40	ORPHA:171430
HP:0000047	Hypospadias	10324	KLHL41	ORPHA:171430
HP:0000047	Hypospadias	56203	LMOD3	ORPHA:171430
HP:0000047	Hypospadias	22858	CILK1	OMIM:612651
HP:0000047	Hypospadias	6662	SOX9	OMIM:114290
HP:0000047	Hypospadias	6662	SOX9	ORPHA:251510
HP:0000047	Hypospadias	6662	SOX9	ORPHA:2138
HP:0000047	Hypospadias	55780	ERMARD	ORPHA:75857
HP:0000047	Hypospadias	9382	COG1	OMIM:611209
HP:0000047	Hypospadias	6595	SMARCA2	OMIM:619293
HP:0000047	Hypospadias	1146	CHRNG	OMIM:265000
HP:0000047	Hypospadias	57492	ARID1B	OMIM:135900
HP:0000047	Hypospadias	57492	ARID1B	ORPHA:1465
HP:0000047	Hypospadias	1136	CHRNA3	OMIM:191800
HP:0000047	Hypospadias	672	BRCA1	ORPHA:84
HP:0000047	Hypospadias	10459	MAD2L2	ORPHA:84
HP:0000047	Hypospadias	7516	XRCC2	ORPHA:84
HP:0000047	Hypospadias	29089	UBE2T	ORPHA:84
HP:0000047	Hypospadias	675	BRCA2	ORPHA:84
HP:0000047	Hypospadias	55120	FANCL	ORPHA:84
HP:0000047	Hypospadias	2177	FANCD2	ORPHA:84
HP:0000047	Hypospadias	2175	FANCA	ORPHA:84
HP:0000047	Hypospadias	2187	FANCB	ORPHA:84
HP:0000047	Hypospadias	2176	FANCC	ORPHA:84
HP:0000047	Hypospadias	2178	FANCE	ORPHA:84
HP:0000047	Hypospadias	2188	FANCF	ORPHA:84
HP:0000047	Hypospadias	2189	FANCG	ORPHA:84
HP:0000047	Hypospadias	5888	RAD51	ORPHA:84
HP:0000047	Hypospadias	5889	RAD51C	ORPHA:84
HP:0000047	Hypospadias	55159	RFWD3	ORPHA:84
HP:0000047	Hypospadias	83990	BRIP1	ORPHA:84
HP:0000047	Hypospadias	57697	FANCM	ORPHA:84
HP:0000047	Hypospadias	79728	PALB2	ORPHA:84
HP:0000047	Hypospadias	84464	SLX4	ORPHA:84
HP:0000047	Hypospadias	2072	ERCC4	ORPHA:84
HP:0000047	Hypospadias	55215	FANCI	ORPHA:84
HP:0000047	Hypospadias	7080	NKX2-1	ORPHA:209905
HP:0000047	Hypospadias	222663	SCUBE3	OMIM:619184
HP:0000047	Hypospadias	55697	VAC14	ORPHA:3472
HP:0000047	Hypospadias	79813	EHMT1	OMIM:610253
HP:0000047	Hypospadias	4214	MAP3K1	OMIM:613762
HP:0000047	Hypospadias	4214	MAP3K1	ORPHA:251510
HP:0000047	Hypospadias	6845	VAMP7	ORPHA:251510
HP:0000047	Hypospadias	51741	WWOX	ORPHA:251510
HP:0000047	Hypospadias	7490	WT1	ORPHA:251510
HP:0000047	Hypospadias	7490	WT1	OMIM:194072
HP:0000047	Hypospadias	58524	DMRT3	ORPHA:251510
HP:0000047	Hypospadias	57647	DHX37	ORPHA:251510
HP:0000047	Hypospadias	23414	ZFPM2	ORPHA:251510
HP:0000047	Hypospadias	190	NR0B1	ORPHA:251510
HP:0000047	Hypospadias	83879	CDCA7	OMIM:616910
HP:0000047	Hypospadias	53834	FGFRL1	OMIM:194190
HP:0000047	Hypospadias	5080	PAX6	OMIM:194072
HP:0000047	Hypospadias	1857	DVL3	ORPHA:3107
HP:0000047	Hypospadias	7474	WNT5A	ORPHA:3107
HP:0000047	Hypospadias	1855	DVL1	ORPHA:3107
HP:0000047	Hypospadias	2535	FZD2	ORPHA:3107
HP:0000047	Hypospadias	2535	FZD2	OMIM:164745
HP:0000047	Hypospadias	5828	PEX2	OMIM:614866
HP:0000047	Hypospadias	5828	PEX2	ORPHA:912
HP:0000047	Hypospadias	11128	POLR3A	OMIM:264090
HP:0000047	Hypospadias	11128	POLR3A	ORPHA:3455
HP:0000047	Hypospadias	79228	THOC6	ORPHA:363444
HP:0000047	Hypospadias	57459	GATAD2B	ORPHA:363686
HP:0000047	Hypospadias	78989	COLEC11	OMIM:265050
HP:0000047	Hypospadias	5324	PLAG1	ORPHA:397590
HP:0000047	Hypospadias	8091	HMGA2	ORPHA:397590
HP:0000047	Hypospadias	3845	KRAS	ORPHA:3339
HP:0000047	Hypospadias	63895	PIEZO2	OMIM:248700
HP:0000047	Hypospadias	63895	PIEZO2	ORPHA:2461
HP:0000047	Hypospadias	9652	SKIC3	OMIM:222470
HP:0000047	Hypospadias	10661	KLF1	OMIM:613673
HP:0000047	Hypospadias	546	ATRX	OMIM:309580
HP:0000047	Hypospadias	546	ATRX	OMIM:301040
HP:0000047	Hypospadias	701	BUB1B	OMIM:257300
HP:0000047	Hypospadias	157570	ESCO2	OMIM:268300
HP:0000047	Hypospadias	157570	ESCO2	ORPHA:2319
HP:0000047	Hypospadias	5631	PRPS1	OMIM:300661
HP:0000047	Hypospadias	123016	TTC8	OMIM:615985
HP:0000047	Hypospadias	7319	UBE2A	ORPHA:163956
HP:0000047	Hypospadias	55670	PEX26	ORPHA:912
HP:0000047	Hypospadias	5824	PEX19	ORPHA:912
HP:0000047	Hypospadias	8504	PEX3	ORPHA:912
HP:0000047	Hypospadias	8799	PEX11B	ORPHA:912
HP:0000047	Hypospadias	9409	PEX16	ORPHA:912
HP:0000047	Hypospadias	5190	PEX6	ORPHA:912
HP:0000047	Hypospadias	5830	PEX5	ORPHA:912
HP:0000047	Hypospadias	5193	PEX12	ORPHA:912
HP:0000047	Hypospadias	5194	PEX13	ORPHA:912
HP:0000047	Hypospadias	5195	PEX14	ORPHA:912
HP:0000047	Hypospadias	5192	PEX10	ORPHA:912
HP:0000047	Hypospadias	4089	SMAD4	ORPHA:2588
HP:0000047	Hypospadias	10075	HUWE1	OMIM:309590
HP:0000047	Hypospadias	10159	ATP6AP2	OMIM:301045
HP:0000047	Hypospadias	10586	MAB21L2	OMIM:615877
HP:0000047	Hypospadias	55593	OTUD5	OMIM:301056
HP:0000047	Hypospadias	113179	ADAT3	ORPHA:363528
HP:0000047	Hypospadias	55209	SETD5	OMIM:615761
HP:0000047	Hypospadias	55784	MCTP2	ORPHA:1596
HP:0000047	Hypospadias	8085	KMT2D	ORPHA:2322
HP:0000047	Hypospadias	7403	KDM6A	ORPHA:2322
HP:0000047	Hypospadias	998	CDC42	OMIM:616737
HP:0000047	Hypospadias	998	CDC42	ORPHA:487796
HP:0000047	Hypospadias	10982	MAPRE2	OMIM:616734
HP:0000047	Hypospadias	10982	MAPRE2	ORPHA:2505
HP:0000047	Hypospadias	8831	SYNGAP1	ORPHA:544254
HP:0000047	Hypospadias	6597	SMARCA4	ORPHA:1465
HP:0000047	Hypospadias	6598	SMARCB1	ORPHA:1465
HP:0000047	Hypospadias	6659	SOX4	ORPHA:1465
HP:0000047	Hypospadias	8289	ARID1A	ORPHA:1465
HP:0000047	Hypospadias	5977	DPF2	ORPHA:1465
HP:0000047	Hypospadias	6601	SMARCC2	ORPHA:1465
HP:0000047	Hypospadias	6602	SMARCD1	ORPHA:1465
HP:0000047	Hypospadias	196528	ARID2	ORPHA:1465
HP:0000047	Hypospadias	6605	SMARCE1	ORPHA:1465
HP:0000047	Hypospadias	6664	SOX11	ORPHA:1465
HP:0000047	Hypospadias	134701	RIPPLY2	ORPHA:2311
HP:0000047	Hypospadias	10683	DLL3	ORPHA:2311
HP:0000047	Hypospadias	3955	LFNG	ORPHA:2311
HP:0000047	Hypospadias	84667	HES7	ORPHA:2311
HP:0000047	Hypospadias	145873	MESP2	ORPHA:2311
HP:0000047	Hypospadias	81620	CDT1	ORPHA:2554
HP:0000047	Hypospadias	5000	ORC4	ORPHA:2554
HP:0000047	Hypospadias	990	CDC6	ORPHA:2554
HP:0000047	Hypospadias	4998	ORC1	ORPHA:2554
HP:0000047	Hypospadias	51053	GMNN	ORPHA:2554
HP:0000047	Hypospadias	23028	KDM1A	ORPHA:477993
HP:0000047	Hypospadias	25	ABL1	OMIM:617602
HP:0000047	Hypospadias	545	ATR	OMIM:210600
HP:0000047	Hypospadias	5116	PCNT	OMIM:210720
HP:0000047	Hypospadias	5723	PSPH	ORPHA:79350
HP:0000047	Hypospadias	23476	BRD4	ORPHA:199
HP:0000047	Hypospadias	9126	SMC3	ORPHA:199
HP:0000047	Hypospadias	8243	SMC1A	ORPHA:199
HP:0000047	Hypospadias	55869	HDAC8	ORPHA:199
HP:0000047	Hypospadias	5885	RAD21	ORPHA:199
HP:0000047	Hypospadias	1589	CYP21A2	OMIM:201910
HP:0000047	Hypospadias	4659	PPP1R12A	OMIM:618820
HP:0000047	Hypospadias	25914	RTTN	ORPHA:468631
HP:0000047	Hypospadias	4796	TONSL	ORPHA:93357
HP:0000047	Hypospadias	202018	TAPT1	OMIM:616897
HP:0000047	Hypospadias	3110	MNX1	ORPHA:1552
HP:0000047	Hypospadias	4047	LSS	OMIM:618840
HP:0000047	Hypospadias	5879	RAC1	OMIM:617751
HP:0000047	Hypospadias	5879	RAC1	ORPHA:500159
HP:0000047	Hypospadias	51780	KDM3B	OMIM:618846
HP:0000047	Hypospadias	4724	NDUFS4	OMIM:252010
HP:0000047	Hypospadias	4000	LMNA	ORPHA:1662
HP:0000047	Hypospadias	10269	ZMPSTE24	ORPHA:1662
HP:0000047	Hypospadias	10269	ZMPSTE24	OMIM:275210
HP:0000047	Hypospadias	5718	PSMD12	OMIM:617516
HP:0000047	Hypospadias	5573	PRKAR1A	ORPHA:280651
HP:0000047	Hypospadias	1468	SLC25A10	OMIM:618972
HP:0000047	Hypospadias	203068	TUBB	ORPHA:2505
HP:0000047	Hypospadias	5604	MAP2K1	OMIM:163950
HP:0000047	Hypospadias	6716	SRD5A2	OMIM:264600
HP:0000047	Hypospadias	6716	SRD5A2	ORPHA:753
HP:0000047	Hypospadias	367	AR	OMIM:300633
HP:0000047	Hypospadias	367	AR	ORPHA:90797
HP:0000047	Hypospadias	367	AR	OMIM:312300
HP:0000047	Hypospadias	2626	GATA4	OMIM:615542
HP:0000047	Hypospadias	131118	DNAJC19	ORPHA:66634
HP:0000047	Hypospadias	3209	HOXA13	OMIM:176305
HP:0000047	Hypospadias	8195	MKKS	ORPHA:2473
HP:0000047	Hypospadias	10847	SRCAP	OMIM:136140
HP:0000047	Hypospadias	389827	MYMK	ORPHA:1358
HP:0000047	Hypospadias	101929726	MYMX	ORPHA:1358
HP:0000047	Hypospadias	745	MYRF	OMIM:618280
HP:0000047	Hypospadias	1717	DHCR7	OMIM:270400
HP:0000047	Hypospadias	3284	HSD3B2	OMIM:201810
HP:0000047	Hypospadias	3284	HSD3B2	ORPHA:90791
HP:0000047	Hypospadias	2516	NR5A1	OMIM:617480
HP:0000047	Hypospadias	2516	NR5A1	OMIM:612965
HP:0000047	Hypospadias	372	ARCN1	OMIM:617164
HP:0000047	Hypospadias	10584	COLEC10	OMIM:248340
HP:0000047	Hypospadias	10046	MAMLD1	ORPHA:456328
HP:0000047	Hypospadias	10046	MAMLD1	OMIM:300758
HP:0000047	Hypospadias	4534	MTM1	ORPHA:456328
HP:0000047	Hypospadias	3481	IGF2	OMIM:616489
HP:0000047	Hypospadias	1009	CDH11	ORPHA:1299
HP:0000047	Hypospadias	1009	CDH11	OMIM:211380
HP:0000047	Hypospadias	6736	SRY	ORPHA:1772
HP:0000047	Hypospadias	3187	HNRNPH1	OMIM:620083
HP:0000047	Hypospadias	57724	EPG5	OMIM:242840
HP:0000047	Hypospadias	10606	PAICS	OMIM:619859
HP:0000047	Hypospadias	2263	FGFR2	OMIM:149730
HP:0000047	Hypospadias	50945	TBX22	ORPHA:921
HP:0000047	Hypospadias	1583	CYP11A1	ORPHA:289548
HP:0000047	Hypospadias	1583	CYP11A1	ORPHA:168558
HP:0000048	Bifid scrotum	5447	POR	OMIM:201750
HP:0000048	Bifid scrotum	10046	MAMLD1	ORPHA:456328
HP:0000048	Bifid scrotum	10046	MAMLD1	ORPHA:95706
HP:0000048	Bifid scrotum	4534	MTM1	ORPHA:456328
HP:0000048	Bifid scrotum	6711	SPTBN1	OMIM:619475
HP:0000048	Bifid scrotum	6662	SOX9	ORPHA:2138
HP:0000048	Bifid scrotum	2516	NR5A1	ORPHA:2138
HP:0000048	Bifid scrotum	6736	SRY	ORPHA:2138
HP:0000048	Bifid scrotum	6736	SRY	ORPHA:1772
HP:0000048	Bifid scrotum	367	AR	OMIM:312300
HP:0000048	Bifid scrotum	367	AR	ORPHA:90797
HP:0000048	Bifid scrotum	367	AR	ORPHA:95706
HP:0000048	Bifid scrotum	3209	HOXA13	OMIM:140000
HP:0000048	Bifid scrotum	9839	ZEB2	OMIM:235730
HP:0000048	Bifid scrotum	9839	ZEB2	ORPHA:261537
HP:0000048	Bifid scrotum	9839	ZEB2	ORPHA:261552
HP:0000048	Bifid scrotum	6299	SALL1	OMIM:107480
HP:0000048	Bifid scrotum	6299	SALL1	ORPHA:857
HP:0000048	Bifid scrotum	6716	SRD5A2	OMIM:264600
HP:0000048	Bifid scrotum	6716	SRD5A2	ORPHA:753
HP:0000048	Bifid scrotum	3664	IRF6	OMIM:119500
HP:0000048	Bifid scrotum	3664	IRF6	ORPHA:1300
HP:0000048	Bifid scrotum	2263	FGFR2	ORPHA:1555
HP:0000048	Bifid scrotum	2263	FGFR2	OMIM:123790
HP:0000048	Bifid scrotum	3481	IGF2	ORPHA:397590
HP:0000048	Bifid scrotum	1028	CDKN1C	ORPHA:397590
HP:0000048	Bifid scrotum	5324	PLAG1	ORPHA:397590
HP:0000048	Bifid scrotum	8091	HMGA2	ORPHA:397590
HP:0000048	Bifid scrotum	3110	MNX1	ORPHA:1552
HP:0000048	Bifid scrotum	51339	DACT1	ORPHA:857
HP:0000048	Bifid scrotum	26128	KIFBP	ORPHA:66629
HP:0000048	Bifid scrotum	55636	CHD7	ORPHA:138
HP:0000048	Bifid scrotum	9723	SEMA3E	ORPHA:138
HP:0000048	Bifid scrotum	1586	CYP17A1	ORPHA:90793
HP:0000048	Bifid scrotum	745	MYRF	OMIM:618280
HP:0000048	Bifid scrotum	3284	HSD3B2	OMIM:201810
HP:0000048	Bifid scrotum	10584	COLEC10	OMIM:248340
HP:0000048	Bifid scrotum	1528	CYB5A	OMIM:250790
HP:0000048	Bifid scrotum	1009	CDH11	OMIM:211380
HP:0000048	Bifid scrotum	701	BUB1B	OMIM:257300
HP:0000048	Bifid scrotum	3239	HOXD13	ORPHA:887
HP:0000048	Bifid scrotum	1717	DHCR7	OMIM:270400
HP:0000048	Bifid scrotum	51733	UPB1	OMIM:613161
HP:0000048	Bifid scrotum	2535	FZD2	ORPHA:93328
HP:0000048	Bifid scrotum	4281	MID1	ORPHA:2745
HP:0000048	Bifid scrotum	79633	FAT4	OMIM:615546
HP:0000049	Shawl scrotum	2245	FGD1	OMIM:305400
HP:0000049	Shawl scrotum	2245	FGD1	ORPHA:915
HP:0000049	Shawl scrotum	1947	EFNB1	OMIM:304110
HP:0000049	Shawl scrotum	1947	EFNB1	ORPHA:1520
HP:0000049	Shawl scrotum	51651	PTRH2	OMIM:616263
HP:0000049	Shawl scrotum	51651	PTRH2	ORPHA:456312
HP:0000049	Shawl scrotum	3975	LHX1	ORPHA:261265
HP:0000049	Shawl scrotum	6928	HNF1B	ORPHA:261265
HP:0000049	Shawl scrotum	54809	SAMD9	OMIM:617053
HP:0000049	Shawl scrotum	9968	MED12	OMIM:300895
HP:0000049	Shawl scrotum	340533	NEXMIF	ORPHA:85277
HP:0000049	Shawl scrotum	4998	ORC1	OMIM:224690
HP:0000049	Shawl scrotum	1859	DYRK1A	ORPHA:268261
HP:0000049	Shawl scrotum	1387	CREBBP	OMIM:180849
HP:0000049	Shawl scrotum	2033	EP300	OMIM:180849
HP:0000049	Shawl scrotum	5718	PSMD12	OMIM:617516
HP:0000049	Shawl scrotum	54499	TMCO1	OMIM:213980
HP:0000049	Shawl scrotum	546	ATRX	OMIM:301040
HP:0000049	Shawl scrotum	6926	TBX3	OMIM:181450
HP:0000049	Shawl scrotum	9496	TBX4	ORPHA:261279
HP:0000049	Shawl scrotum	4281	MID1	ORPHA:2745
HP:0000049	Shawl scrotum	23384	SPECC1L	OMIM:145420
HP:0000049	Shawl scrotum	23384	SPECC1L	ORPHA:1519
HP:0000049	Shawl scrotum	1954	MEGF8	OMIM:614976
HP:0000049	Shawl scrotum	117581	TWIST2	ORPHA:1231
HP:0000049	Shawl scrotum	124512	METTL23	OMIM:615942
HP:0000049	Shawl scrotum	3911	LAMA5	OMIM:620076
HP:0010260	Enlarged epiphyses of the middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010264	Pseudoepiphyses of the middle phalanges of the hand	4883	NPR3	OMIM:619543
HP:0010267	Triangular epiphyses of the middle phalanges of the hand	8200	GDF5	OMIM:113100
HP:0007208	Irregular myelin loops	8898	MTMR2	OMIM:601382
HP:0007209	Facial paralysis	10312	TCIRG1	OMIM:259700
HP:0007209	Facial paralysis	79628	SH3TC2	ORPHA:99949
HP:0007209	Facial paralysis	27247	NFU1	OMIM:605711
HP:0007209	Facial paralysis	1282	COL4A1	OMIM:175780
HP:0007209	Facial paralysis	91574	MTRFR	OMIM:613559
HP:0007209	Facial paralysis	1186	CLCN7	OMIM:166600
HP:0007209	Facial paralysis	773	CACNA1A	ORPHA:569
HP:0007209	Facial paralysis	112476	PRRT2	ORPHA:569
HP:0007209	Facial paralysis	6323	SCN1A	ORPHA:569
HP:0007209	Facial paralysis	477	ATP1A2	ORPHA:569
HP:0007209	Facial paralysis	8600	TNFSF11	OMIM:259710
HP:0007206	Hemimegalencephaly	7249	TSC2	OMIM:613254
HP:0007206	Hemimegalencephaly	7249	TSC2	OMIM:607341
HP:0007206	Hemimegalencephaly	3458	IFNG	OMIM:613254
HP:0007206	Hemimegalencephaly	2475	MTOR	OMIM:616638
HP:0007206	Hemimegalencephaly	2475	MTOR	ORPHA:99802
HP:0007206	Hemimegalencephaly	2475	MTOR	OMIM:607341
HP:0007206	Hemimegalencephaly	5728	PTEN	OMIM:158350
HP:0007206	Hemimegalencephaly	7248	TSC1	OMIM:191100
HP:0007206	Hemimegalencephaly	7248	TSC1	OMIM:607341
HP:0007206	Hemimegalencephaly	10000	AKT3	OMIM:615937
HP:0007206	Hemimegalencephaly	10000	AKT3	ORPHA:99802
HP:0007206	Hemimegalencephaly	5290	PIK3CA	ORPHA:99802
HP:0007206	Hemimegalencephaly	9681	DEPDC5	OMIM:604364
HP:0007206	Hemimegalencephaly	9681	DEPDC5	ORPHA:98820
HP:0007206	Hemimegalencephaly	3845	KRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	4893	NRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	3265	HRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	6608	SMO	OMIM:601707
HP:0007206	Hemimegalencephaly	8131	NPRL3	ORPHA:98820
HP:0007206	Hemimegalencephaly	10641	NPRL2	ORPHA:98820
HP:0007207	Photosensitive tonic-clonic seizure	10479	SLC9A6	OMIM:300243
HP:0007207	Photosensitive tonic-clonic seizure	114327	EFHC1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2563	GABRD	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	1181	CLCN2	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2554	GABRA1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2554	GABRA1	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	3786	KCNQ3	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	22858	CILK1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	8629	JRK	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	785	CACNB4	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	6335	SCN9A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6326	SCN2A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6323	SCN1A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6324	SCN1B	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	57526	PCDH19	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	2566	GABRG2	ORPHA:33069
HP:0030692	Brain neoplasm	5925	RB1	OMIM:180200
HP:0030692	Brain neoplasm	324	APC	ORPHA:99818
HP:0030692	Brain neoplasm	324	APC	ORPHA:79665
HP:0030692	Brain neoplasm	5426	POLE	ORPHA:447877
HP:0030692	Brain neoplasm	5424	POLD1	ORPHA:447877
HP:0030692	Brain neoplasm	4763	NF1	ORPHA:97685
HP:0030692	Brain neoplasm	2313	FLI1	ORPHA:370348
HP:0030692	Brain neoplasm	7373	COL14A1	ORPHA:79501
HP:0030692	Brain neoplasm	79719	AAGAB	ORPHA:79501
HP:0030692	Brain neoplasm	25978	CHMP2B	ORPHA:100070
HP:0030692	Brain neoplasm	5663	PSEN1	ORPHA:100070
HP:0030692	Brain neoplasm	2896	GRN	ORPHA:100070
HP:0030692	Brain neoplasm	54664	TMEM106B	ORPHA:100070
HP:0030692	Brain neoplasm	4137	MAPT	ORPHA:100070
HP:0030692	Brain neoplasm	54209	TREM2	ORPHA:100070
HP:0030692	Brain neoplasm	7415	VCP	ORPHA:100070
HP:0030692	Brain neoplasm	65998	ZFTA	ORPHA:251636
HP:0030692	Brain neoplasm	5970	RELA	ORPHA:251636
HP:0007210	Lower limb amyotrophy	23299	BICD2	OMIM:615290
HP:0007210	Lower limb amyotrophy	340075	ARSI	ORPHA:401815
HP:0007210	Lower limb amyotrophy	9197	SLC33A1	ORPHA:171863
HP:0007210	Lower limb amyotrophy	340533	NEXMIF	OMIM:300912
HP:0007210	Lower limb amyotrophy	3920	LAMP2	OMIM:300257
HP:0007210	Lower limb amyotrophy	91574	MTRFR	OMIM:615035
HP:0007210	Lower limb amyotrophy	339855	KY	ORPHA:496689
HP:0007210	Lower limb amyotrophy	9420	CYP7B1	ORPHA:100986
HP:0007210	Lower limb amyotrophy	9420	CYP7B1	OMIM:270800
HP:0007210	Lower limb amyotrophy	84665	MYPN	ORPHA:171881
HP:0007210	Lower limb amyotrophy	7169	TPM2	ORPHA:171881
HP:0007210	Lower limb amyotrophy	7170	TPM3	ORPHA:171881
HP:0007210	Lower limb amyotrophy	81545	FBXO38	OMIM:615575
HP:0007210	Lower limb amyotrophy	9255	AIMP1	OMIM:260600
HP:0007210	Lower limb amyotrophy	7994	KAT6A	OMIM:616268
HP:0007210	Lower limb amyotrophy	4744	NEFH	OMIM:616924
HP:0007210	Lower limb amyotrophy	10342	TFG	OMIM:615658
HP:0007210	Lower limb amyotrophy	64856	VWA1	OMIM:619216
HP:0007210	Lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0007210	Lower limb amyotrophy	10020	GNE	ORPHA:602
HP:0007210	Lower limb amyotrophy	3098	HK1	ORPHA:99953
HP:0007210	Lower limb amyotrophy	6253	RTN2	ORPHA:100993
HP:0007210	Lower limb amyotrophy	51271	UBAP1	ORPHA:100993
HP:0007210	Lower limb amyotrophy	10397	NDRG1	ORPHA:99950
HP:0007210	Lower limb amyotrophy	5354	PLP1	ORPHA:280210
HP:0007210	Lower limb amyotrophy	55210	ATAD3A	ORPHA:496790
HP:0007210	Lower limb amyotrophy	9927	MFN2	OMIM:617087
HP:0007210	Lower limb amyotrophy	8566	PDXK	OMIM:618511
HP:0007210	Lower limb amyotrophy	4747	NEFL	OMIM:617882
HP:0007210	Lower limb amyotrophy	10667	FARS2	OMIM:617046
HP:0007210	Lower limb amyotrophy	10667	FARS2	ORPHA:466722
HP:0007210	Lower limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0007210	Lower limb amyotrophy	84668	HYCC1	OMIM:610532
HP:0007210	Lower limb amyotrophy	128486	FITM2	OMIM:618635
HP:0007210	Lower limb amyotrophy	547	KIF1A	OMIM:610357
HP:0007210	Lower limb amyotrophy	203859	ANO5	ORPHA:206549
HP:0007210	Lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0007210	Lower limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0007210	Lower limb amyotrophy	51062	ATL1	ORPHA:100984
HP:0007210	Lower limb amyotrophy	51062	ATL1	OMIM:613708
HP:0007210	Lower limb amyotrophy	51062	ATL1	OMIM:182600
HP:0007210	Lower limb amyotrophy	7528	YY1	ORPHA:506358
HP:0007210	Lower limb amyotrophy	8450	CUL4B	OMIM:300354
HP:0007210	Lower limb amyotrophy	23769	FLRT1	ORPHA:320406
HP:0007210	Lower limb amyotrophy	64837	KLC2	ORPHA:320406
HP:0007210	Lower limb amyotrophy	4099	MAG	OMIM:616680
HP:0007210	Lower limb amyotrophy	4099	MAG	ORPHA:459056
HP:0007210	Lower limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0007210	Lower limb amyotrophy	2318	FLNC	OMIM:614065
HP:0007210	Lower limb amyotrophy	26580	BSCL2	OMIM:619112
HP:0007210	Lower limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0007210	Lower limb amyotrophy	4311	MME	OMIM:617017
HP:0007210	Lower limb amyotrophy	57863	CADM3	OMIM:619519
HP:0007210	Lower limb amyotrophy	5165	PDK3	OMIM:300905
HP:0007210	Lower limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0007210	Lower limb amyotrophy	3315	HSPB1	OMIM:606595
HP:0007210	Lower limb amyotrophy	3315	HSPB1	ORPHA:99940
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276244
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276241
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276238
HP:0007210	Lower limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0007210	Lower limb amyotrophy	2705	GJB1	OMIM:302800
HP:0007210	Lower limb amyotrophy	2705	GJB1	ORPHA:1175
HP:0007210	Lower limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007210	Lower limb amyotrophy	4000	LMNA	OMIM:181350
HP:0007210	Lower limb amyotrophy	7879	RAB7A	OMIM:600882
HP:0007210	Lower limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0007210	Lower limb amyotrophy	8242	KDM5C	OMIM:300534
HP:0007210	Lower limb amyotrophy	3300	DNAJB2	OMIM:614881
HP:0007210	Lower limb amyotrophy	57679	ALS2	OMIM:205100
HP:0007210	Lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0007210	Lower limb amyotrophy	4556	MT-TE	ORPHA:2596
HP:0007210	Lower limb amyotrophy	126129	CPT1C	ORPHA:444099
HP:0007210	Lower limb amyotrophy	3798	KIF5A	ORPHA:100991
HP:0007210	Lower limb amyotrophy	59345	GNB4	OMIM:615185
HP:0007210	Lower limb amyotrophy	8557	TCAP	OMIM:601954
HP:0007210	Lower limb amyotrophy	64423	INF2	OMIM:614455
HP:0007210	Lower limb amyotrophy	16	AARS1	OMIM:613287
HP:0007210	Lower limb amyotrophy	7453	WARS1	OMIM:617721
HP:0007210	Lower limb amyotrophy	9131	AIFM1	OMIM:310490
HP:0007210	Lower limb amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0007210	Lower limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0007210	Lower limb amyotrophy	3852	KRT5	ORPHA:79396
HP:0007210	Lower limb amyotrophy	3861	KRT14	ORPHA:79396
HP:0007210	Lower limb amyotrophy	121512	FGD4	OMIM:609311
HP:0007210	Lower limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0007210	Lower limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0007210	Lower limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0007210	Lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0007210	Lower limb amyotrophy	4625	MYH7	OMIM:160500
HP:0000051	Perineal hypospadias	3284	HSD3B2	OMIM:201810
HP:0000051	Perineal hypospadias	6716	SRD5A2	OMIM:264600
HP:0000051	Perineal hypospadias	6716	SRD5A2	ORPHA:753
HP:0000051	Perineal hypospadias	367	AR	OMIM:300633
HP:0000051	Perineal hypospadias	367	AR	ORPHA:90797
HP:0000051	Perineal hypospadias	367	AR	OMIM:312300
HP:0000051	Perineal hypospadias	2626	GATA4	OMIM:615542
HP:0000051	Perineal hypospadias	131118	DNAJC19	ORPHA:66634
HP:0000053	Macroorchidism	4204	MECP2	OMIM:300055
HP:0000053	Macroorchidism	4204	MECP2	ORPHA:3077
HP:0000053	Macroorchidism	27316	RBMX	OMIM:300238
HP:0000053	Macroorchidism	8367	H4C5	OMIM:619950
HP:0000053	Macroorchidism	4763	NF1	ORPHA:139474
HP:0000053	Macroorchidism	2332	FMR1	ORPHA:908
HP:0000053	Macroorchidism	9968	MED12	OMIM:309520
HP:0000053	Macroorchidism	9968	MED12	ORPHA:776
HP:0000053	Macroorchidism	3973	LHCGR	ORPHA:3000
HP:0000053	Macroorchidism	5728	PTEN	ORPHA:744
HP:0000053	Macroorchidism	207	AKT1	ORPHA:744
HP:0000053	Macroorchidism	2778	GNAS	ORPHA:562
HP:0000053	Macroorchidism	170302	ARX	ORPHA:94083
HP:0000053	Macroorchidism	11141	IL1RAPL1	OMIM:300143
HP:0000053	Macroorchidism	1193	CLIC2	OMIM:300886
HP:0000053	Macroorchidism	1193	CLIC2	ORPHA:324410
HP:0000053	Macroorchidism	175	AGA	OMIM:208400
HP:0000053	Macroorchidism	175	AGA	ORPHA:93
HP:0000053	Macroorchidism	51114	ZDHHC9	ORPHA:776
HP:0000053	Macroorchidism	65109	UPF3B	ORPHA:776
HP:0000053	Macroorchidism	5573	PRKAR1A	ORPHA:1359
HP:0000053	Macroorchidism	50940	PDE11A	ORPHA:1359
HP:0000053	Macroorchidism	7252	TSHB	ORPHA:90674
HP:0000053	Macroorchidism	1588	CYP19A1	ORPHA:91
HP:0000055	Abnormality of female external genitalia	3981	LIG4	ORPHA:235
HP:0000055	Abnormality of female external genitalia	54888	NSUN2	ORPHA:235
HP:0000055	Abnormality of female external genitalia	5573	PRKAR1A	ORPHA:950
HP:0000055	Abnormality of female external genitalia	5144	PDE4D	ORPHA:950
HP:0000055	Abnormality of female external genitalia	84733	CBX2	OMIM:613080
HP:0000055	Abnormality of female external genitalia	7852	CXCR4	OMIM:193670
HP:0000055	Abnormality of female external genitalia	5116	PCNT	ORPHA:2637
HP:0000055	Abnormality of female external genitalia	5590	PRKCZ	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	2563	GABRD	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	23013	SPEN	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	8510	MMP23B	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	7798	LUZP1	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	6497	SKI	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	10630	PDPN	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	3339	HSPG2	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	10277	UBE4B	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	8514	KCNAB2	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	473	RERE	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	63976	PRDM16	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	54897	CASZ1	ORPHA:1606
HP:0000055	Abnormality of female external genitalia	50846	DHH	ORPHA:168563
HP:0000055	Abnormality of female external genitalia	6888	TALDO1	ORPHA:101028
HP:0000055	Abnormality of female external genitalia	3670	ISL1	ORPHA:93930
HP:0000055	Abnormality of female external genitalia	6662	SOX9	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	6845	VAMP7	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	51741	WWOX	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	4214	MAP3K1	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	58524	DMRT3	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	57647	DHX37	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	190	NR0B1	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	2626	GATA4	ORPHA:251510
HP:0000055	Abnormality of female external genitalia	23476	BRD4	ORPHA:199
HP:0000055	Abnormality of female external genitalia	9126	SMC3	ORPHA:199
HP:0000055	Abnormality of female external genitalia	8243	SMC1A	ORPHA:199
HP:0000055	Abnormality of female external genitalia	25836	NIPBL	ORPHA:199
HP:0000055	Abnormality of female external genitalia	25836	NIPBL	OMIM:122470
HP:0000055	Abnormality of female external genitalia	55869	HDAC8	ORPHA:199
HP:0000055	Abnormality of female external genitalia	5885	RAD21	ORPHA:199
HP:0000055	Abnormality of female external genitalia	10664	CTCF	ORPHA:363611
HP:0000055	Abnormality of female external genitalia	2100	ESR2	OMIM:618187
HP:0000055	Abnormality of female external genitalia	3664	IRF6	ORPHA:1300
HP:0000055	Abnormality of female external genitalia	3664	IRF6	OMIM:119500
HP:0000055	Abnormality of female external genitalia	29957	SLC25A24	OMIM:612289
HP:0000055	Abnormality of female external genitalia	8626	TP63	OMIM:129400
HP:0000055	Abnormality of female external genitalia	23347	SMCHD1	OMIM:603457
HP:0000055	Abnormality of female external genitalia	9896	FIG4	ORPHA:3472
HP:0000055	Abnormality of female external genitalia	55697	VAC14	ORPHA:3472
HP:0000055	Abnormality of female external genitalia	54101	RIPK4	OMIM:263650
HP:0000055	Abnormality of female external genitalia	89910	UBE3B	OMIM:244450
HP:0000055	Abnormality of female external genitalia	9427	ECEL1	OMIM:615065
HP:0000055	Abnormality of female external genitalia	4920	ROR2	OMIM:268310
HP:0000055	Abnormality of female external genitalia	145173	B3GLCT	OMIM:261540
HP:0000055	Abnormality of female external genitalia	145173	B3GLCT	ORPHA:709
HP:0000055	Abnormality of female external genitalia	55012	PPP2R3C	OMIM:618419
HP:0000055	Abnormality of female external genitalia	25886	POC1A	OMIM:614813
HP:0000055	Abnormality of female external genitalia	1718	DHCR24	OMIM:602398
HP:0000055	Abnormality of female external genitalia	7148	TNXB	OMIM:606408
HP:0000055	Abnormality of female external genitalia	6913	TBX15	OMIM:260660
HP:0000055	Abnormality of female external genitalia	54903	MKS1	OMIM:249000
HP:0000055	Abnormality of female external genitalia	1584	CYP11B1	OMIM:202010
HP:0000055	Abnormality of female external genitalia	1584	CYP11B1	ORPHA:90795
HP:0000055	Abnormality of female external genitalia	6736	SRY	ORPHA:1772
HP:0000055	Abnormality of female external genitalia	7490	WT1	OMIM:194080
HP:0000055	Abnormality of female external genitalia	3284	HSD3B2	ORPHA:90791
HP:0000055	Abnormality of female external genitalia	1588	CYP19A1	ORPHA:91
HP:0000055	Abnormality of female external genitalia	471	ATIC	ORPHA:250977
HP:0000055	Abnormality of female external genitalia	471	ATIC	OMIM:608688
HP:0000055	Abnormality of female external genitalia	2263	FGFR2	OMIM:207410
HP:0000055	Abnormality of female external genitalia	23414	ZFPM2	OMIM:616067
HP:0000055	Abnormality of female external genitalia	6638	SNRPN	ORPHA:177904
HP:0000055	Abnormality of female external genitalia	6638	SNRPN	ORPHA:177901
HP:0000055	Abnormality of female external genitalia	6638	SNRPN	ORPHA:98754
HP:0000055	Abnormality of female external genitalia	4692	NDN	ORPHA:177904
HP:0000055	Abnormality of female external genitalia	4692	NDN	ORPHA:177901
HP:0000055	Abnormality of female external genitalia	4692	NDN	ORPHA:98754
HP:0000055	Abnormality of female external genitalia	54551	MAGEL2	ORPHA:177904
HP:0000055	Abnormality of female external genitalia	54551	MAGEL2	ORPHA:177901
HP:0000055	Abnormality of female external genitalia	54551	MAGEL2	ORPHA:398069
HP:0000055	Abnormality of female external genitalia	54551	MAGEL2	OMIM:176270
HP:0000055	Abnormality of female external genitalia	54551	MAGEL2	ORPHA:98754
HP:0000055	Abnormality of female external genitalia	4948	OCA2	ORPHA:177904
HP:0000055	Abnormality of female external genitalia	4948	OCA2	ORPHA:177901
HP:0000055	Abnormality of female external genitalia	4948	OCA2	ORPHA:98754
HP:0000055	Abnormality of female external genitalia	2571	GAD1	OMIM:619124
HP:0000055	Abnormality of female external genitalia	4998	ORC1	OMIM:224690
HP:0000055	Abnormality of female external genitalia	4998	ORC1	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	1857	DVL3	ORPHA:3107
HP:0000055	Abnormality of female external genitalia	7474	WNT5A	ORPHA:3107
HP:0000055	Abnormality of female external genitalia	1855	DVL1	ORPHA:3107
HP:0000055	Abnormality of female external genitalia	22931	RAB18	OMIM:614222
HP:0000055	Abnormality of female external genitalia	22931	RAB18	ORPHA:2510
HP:0000055	Abnormality of female external genitalia	117581	TWIST2	OMIM:209885
HP:0000055	Abnormality of female external genitalia	6492	SIM1	ORPHA:398079
HP:0000055	Abnormality of female external genitalia	60	ACTB	ORPHA:64755
HP:0000055	Abnormality of female external genitalia	26040	SETBP1	OMIM:269150
HP:0000055	Abnormality of female external genitalia	23594	ORC6	OMIM:613803
HP:0000055	Abnormality of female external genitalia	23594	ORC6	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	81620	CDT1	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	8318	CDC45	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	990	CDC6	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	51053	GMNN	ORPHA:2554
HP:0000055	Abnormality of female external genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0000055	Abnormality of female external genitalia	25782	RAB3GAP2	ORPHA:2510
HP:0000055	Abnormality of female external genitalia	128637	TBC1D20	ORPHA:2510
HP:0000055	Abnormality of female external genitalia	7681	MKRN3	OMIM:176270
HP:0000055	Abnormality of female external genitalia	3653	IPW	OMIM:176270
HP:0000055	Abnormality of female external genitalia	791114	PWRN1	OMIM:176270
HP:0000055	Abnormality of female external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0000055	Abnormality of female external genitalia	8924	HERC2	OMIM:176270
HP:0000055	Abnormality of female external genitalia	145624	PWAR1	OMIM:176270
HP:0000055	Abnormality of female external genitalia	23742	NPAP1	OMIM:176270
HP:0000055	Abnormality of female external genitalia	338433	SNORD115-1	OMIM:176270
HP:0000055	Abnormality of female external genitalia	3643	INSR	ORPHA:508
HP:0000055	Abnormality of female external genitalia	57061	HYMAI	ORPHA:96191
HP:0000055	Abnormality of female external genitalia	5325	PLAGL1	ORPHA:96191
HP:0000055	Abnormality of female external genitalia	26580	BSCL2	OMIM:269700
HP:0000055	Abnormality of female external genitalia	10555	AGPAT2	OMIM:608594
HP:0000055	Abnormality of female external genitalia	2535	FZD2	OMIM:164745
HP:0000055	Abnormality of female external genitalia	10236	HNRNPR	OMIM:620073
HP:0000055	Abnormality of female external genitalia	6595	SMARCA2	OMIM:619293
HP:0000055	Abnormality of female external genitalia	64840	PORCN	OMIM:305600
HP:0000055	Abnormality of female external genitalia	367	AR	OMIM:300068
HP:0000055	Abnormality of female external genitalia	5447	POR	OMIM:201750
HP:0000055	Abnormality of female external genitalia	92002	CCNQ	ORPHA:140952
HP:0000055	Abnormality of female external genitalia	92002	CCNQ	OMIM:300707
HP:0000055	Abnormality of female external genitalia	23522	KAT6B	OMIM:606170
HP:0000055	Abnormality of female external genitalia	55636	CHD7	OMIM:214800
HP:0000055	Abnormality of female external genitalia	55636	CHD7	ORPHA:138
HP:0000055	Abnormality of female external genitalia	5000	ORC4	OMIM:613800
HP:0000055	Abnormality of female external genitalia	9723	SEMA3E	ORPHA:138
HP:0000055	Abnormality of female external genitalia	1349	COX7B	OMIM:309801
HP:0000055	Abnormality of female external genitalia	1349	COX7B	ORPHA:2556
HP:0000055	Abnormality of female external genitalia	3052	HCCS	OMIM:309801
HP:0000055	Abnormality of female external genitalia	3052	HCCS	ORPHA:2556
HP:0000055	Abnormality of female external genitalia	54539	NDUFB11	OMIM:309801
HP:0000055	Abnormality of female external genitalia	54539	NDUFB11	ORPHA:2556
HP:0000055	Abnormality of female external genitalia	4659	PPP1R12A	OMIM:618820
HP:0000055	Abnormality of female external genitalia	5828	PEX2	OMIM:614866
HP:0000055	Abnormality of female external genitalia	5828	PEX2	ORPHA:912
HP:0000055	Abnormality of female external genitalia	81857	MED25	OMIM:616449
HP:0000055	Abnormality of female external genitalia	5830	PEX5	OMIM:214110
HP:0000055	Abnormality of female external genitalia	5830	PEX5	ORPHA:912
HP:0000055	Abnormality of female external genitalia	197131	UBR1	OMIM:243800
HP:0000055	Abnormality of female external genitalia	2232	FDXR	ORPHA:543470
HP:0000055	Abnormality of female external genitalia	10293	TRAIP	OMIM:616777
HP:0000055	Abnormality of female external genitalia	1717	DHCR7	ORPHA:818
HP:0000055	Abnormality of female external genitalia	22995	CEP152	OMIM:613823
HP:0000055	Abnormality of female external genitalia	5189	PEX1	OMIM:214100
HP:0000055	Abnormality of female external genitalia	5189	PEX1	ORPHA:912
HP:0000055	Abnormality of female external genitalia	57492	ARID1B	OMIM:135900
HP:0000055	Abnormality of female external genitalia	1583	CYP11A1	ORPHA:168558
HP:0000055	Abnormality of female external genitalia	1583	CYP11A1	ORPHA:289548
HP:0000055	Abnormality of female external genitalia	284654	RSPO1	OMIM:610644
HP:0000055	Abnormality of female external genitalia	5468	PPARG	ORPHA:528
HP:0000055	Abnormality of female external genitalia	284119	CAVIN1	ORPHA:528
HP:0000055	Abnormality of female external genitalia	2353	FOS	ORPHA:528
HP:0000055	Abnormality of female external genitalia	857	CAV1	ORPHA:528
HP:0000055	Abnormality of female external genitalia	114034	TOE1	ORPHA:284339
HP:0000055	Abnormality of female external genitalia	9562	MINPP1	ORPHA:284339
HP:0000055	Abnormality of female external genitalia	545	ATR	OMIM:210600
HP:0000055	Abnormality of female external genitalia	55670	PEX26	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5824	PEX19	ORPHA:912
HP:0000055	Abnormality of female external genitalia	8504	PEX3	ORPHA:912
HP:0000055	Abnormality of female external genitalia	8799	PEX11B	ORPHA:912
HP:0000055	Abnormality of female external genitalia	9409	PEX16	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5190	PEX6	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5193	PEX12	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5194	PEX13	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5195	PEX14	ORPHA:912
HP:0000055	Abnormality of female external genitalia	5192	PEX10	ORPHA:912
HP:0000055	Abnormality of female external genitalia	157570	ESCO2	OMIM:268300
HP:0000055	Abnormality of female external genitalia	1146	CHRNG	OMIM:265000
HP:0000055	Abnormality of female external genitalia	1146	CHRNG	ORPHA:2990
HP:0000055	Abnormality of female external genitalia	4621	MYH3	ORPHA:2990
HP:0000055	Abnormality of female external genitalia	4000	LMNA	OMIM:151660
HP:0000055	Abnormality of female external genitalia	23384	SPECC1L	ORPHA:1519
HP:0000055	Abnormality of female external genitalia	341640	FREM2	ORPHA:2052
HP:0000055	Abnormality of female external genitalia	80144	FRAS1	ORPHA:2052
HP:0000055	Abnormality of female external genitalia	23426	GRIP1	ORPHA:2052
HP:0000055	Abnormality of female external genitalia	10225	CD96	ORPHA:1308
HP:0000055	Abnormality of female external genitalia	2908	NR3C1	ORPHA:786
HP:0000055	Abnormality of female external genitalia	64359	NXN	ORPHA:1507
HP:0000055	Abnormality of female external genitalia	7841	MOGS	OMIM:606056
HP:0000055	Abnormality of female external genitalia	5881	RAC3	OMIM:618577
HP:0000055	Abnormality of female external genitalia	3991	LIPE	ORPHA:435660
HP:0000055	Abnormality of female external genitalia	5373	PMM2	ORPHA:79318
HP:0000055	Abnormality of female external genitalia	2516	NR5A1	OMIM:617480
HP:0000056	Abnormality of the clitoris	6888	TALDO1	ORPHA:101028
HP:0000056	Abnormality of the clitoris	8626	TP63	ORPHA:93930
HP:0000056	Abnormality of the clitoris	3670	ISL1	ORPHA:93930
HP:0000056	Abnormality of the clitoris	2535	FZD2	OMIM:164745
HP:0000056	Abnormality of the clitoris	2535	FZD2	ORPHA:3107
HP:0000056	Abnormality of the clitoris	4920	ROR2	OMIM:268310
HP:0000056	Abnormality of the clitoris	64840	PORCN	OMIM:305600
HP:0000056	Abnormality of the clitoris	6638	SNRPN	ORPHA:177904
HP:0000056	Abnormality of the clitoris	6638	SNRPN	ORPHA:177901
HP:0000056	Abnormality of the clitoris	6638	SNRPN	ORPHA:98754
HP:0000056	Abnormality of the clitoris	4692	NDN	ORPHA:177904
HP:0000056	Abnormality of the clitoris	4692	NDN	ORPHA:177901
HP:0000056	Abnormality of the clitoris	4692	NDN	ORPHA:98754
HP:0000056	Abnormality of the clitoris	54551	MAGEL2	ORPHA:177904
HP:0000056	Abnormality of the clitoris	54551	MAGEL2	ORPHA:177901
HP:0000056	Abnormality of the clitoris	54551	MAGEL2	ORPHA:398069
HP:0000056	Abnormality of the clitoris	54551	MAGEL2	OMIM:176270
HP:0000056	Abnormality of the clitoris	54551	MAGEL2	ORPHA:98754
HP:0000056	Abnormality of the clitoris	4948	OCA2	ORPHA:177904
HP:0000056	Abnormality of the clitoris	4948	OCA2	ORPHA:177901
HP:0000056	Abnormality of the clitoris	4948	OCA2	ORPHA:98754
HP:0000056	Abnormality of the clitoris	1857	DVL3	OMIM:616894
HP:0000056	Abnormality of the clitoris	1857	DVL3	ORPHA:3107
HP:0000056	Abnormality of the clitoris	145173	B3GLCT	OMIM:261540
HP:0000056	Abnormality of the clitoris	145173	B3GLCT	ORPHA:709
HP:0000056	Abnormality of the clitoris	7474	WNT5A	ORPHA:3107
HP:0000056	Abnormality of the clitoris	7474	WNT5A	OMIM:180700
HP:0000056	Abnormality of the clitoris	1855	DVL1	ORPHA:3107
HP:0000056	Abnormality of the clitoris	1855	DVL1	OMIM:180700
HP:0000056	Abnormality of the clitoris	55012	PPP2R3C	OMIM:618419
HP:0000056	Abnormality of the clitoris	6492	SIM1	ORPHA:398079
HP:0000056	Abnormality of the clitoris	25886	POC1A	OMIM:614813
HP:0000056	Abnormality of the clitoris	81620	CDT1	ORPHA:2554
HP:0000056	Abnormality of the clitoris	5000	ORC4	ORPHA:2554
HP:0000056	Abnormality of the clitoris	23594	ORC6	ORPHA:2554
HP:0000056	Abnormality of the clitoris	8318	CDC45	ORPHA:2554
HP:0000056	Abnormality of the clitoris	990	CDC6	ORPHA:2554
HP:0000056	Abnormality of the clitoris	4998	ORC1	ORPHA:2554
HP:0000056	Abnormality of the clitoris	51053	GMNN	ORPHA:2554
HP:0000056	Abnormality of the clitoris	22930	RAB3GAP1	ORPHA:2510
HP:0000056	Abnormality of the clitoris	25782	RAB3GAP2	ORPHA:2510
HP:0000056	Abnormality of the clitoris	22931	RAB18	ORPHA:2510
HP:0000056	Abnormality of the clitoris	128637	TBC1D20	ORPHA:2510
HP:0000056	Abnormality of the clitoris	7681	MKRN3	OMIM:176270
HP:0000056	Abnormality of the clitoris	3653	IPW	OMIM:176270
HP:0000056	Abnormality of the clitoris	791114	PWRN1	OMIM:176270
HP:0000056	Abnormality of the clitoris	100033413	SNORD116-1	OMIM:176270
HP:0000056	Abnormality of the clitoris	8924	HERC2	OMIM:176270
HP:0000056	Abnormality of the clitoris	145624	PWAR1	OMIM:176270
HP:0000056	Abnormality of the clitoris	23742	NPAP1	OMIM:176270
HP:0000056	Abnormality of the clitoris	338433	SNORD115-1	OMIM:176270
HP:0000056	Abnormality of the clitoris	3643	INSR	OMIM:262190
HP:0000056	Abnormality of the clitoris	3643	INSR	ORPHA:508
HP:0000056	Abnormality of the clitoris	3643	INSR	OMIM:246200
HP:0000056	Abnormality of the clitoris	3643	INSR	ORPHA:769
HP:0000056	Abnormality of the clitoris	1349	COX7B	OMIM:309801
HP:0000056	Abnormality of the clitoris	1349	COX7B	ORPHA:2556
HP:0000056	Abnormality of the clitoris	3052	HCCS	OMIM:309801
HP:0000056	Abnormality of the clitoris	3052	HCCS	ORPHA:2556
HP:0000056	Abnormality of the clitoris	54539	NDUFB11	OMIM:309801
HP:0000056	Abnormality of the clitoris	54539	NDUFB11	ORPHA:2556
HP:0000056	Abnormality of the clitoris	26580	BSCL2	OMIM:269700
HP:0000056	Abnormality of the clitoris	26580	BSCL2	ORPHA:528
HP:0000056	Abnormality of the clitoris	471	ATIC	ORPHA:250977
HP:0000056	Abnormality of the clitoris	471	ATIC	OMIM:608688
HP:0000056	Abnormality of the clitoris	92002	CCNQ	OMIM:300707
HP:0000056	Abnormality of the clitoris	92002	CCNQ	ORPHA:140952
HP:0000056	Abnormality of the clitoris	4659	PPP1R12A	OMIM:618820
HP:0000056	Abnormality of the clitoris	5828	PEX2	OMIM:614866
HP:0000056	Abnormality of the clitoris	5828	PEX2	ORPHA:912
HP:0000056	Abnormality of the clitoris	81857	MED25	OMIM:616449
HP:0000056	Abnormality of the clitoris	2516	NR5A1	OMIM:612964
HP:0000056	Abnormality of the clitoris	2516	NR5A1	OMIM:612965
HP:0000056	Abnormality of the clitoris	2516	NR5A1	OMIM:617480
HP:0000056	Abnormality of the clitoris	2516	NR5A1	ORPHA:251510
HP:0000056	Abnormality of the clitoris	5830	PEX5	OMIM:214110
HP:0000056	Abnormality of the clitoris	5830	PEX5	ORPHA:912
HP:0000056	Abnormality of the clitoris	157570	ESCO2	ORPHA:3103
HP:0000056	Abnormality of the clitoris	157570	ESCO2	OMIM:268300
HP:0000056	Abnormality of the clitoris	80144	FRAS1	OMIM:219000
HP:0000056	Abnormality of the clitoris	6736	SRY	OMIM:400045
HP:0000056	Abnormality of the clitoris	6736	SRY	ORPHA:251510
HP:0000056	Abnormality of the clitoris	197131	UBR1	OMIM:243800
HP:0000056	Abnormality of the clitoris	2571	GAD1	OMIM:619124
HP:0000056	Abnormality of the clitoris	89910	UBE3B	OMIM:244450
HP:0000056	Abnormality of the clitoris	89910	UBE3B	ORPHA:2707
HP:0000056	Abnormality of the clitoris	2232	FDXR	ORPHA:543470
HP:0000056	Abnormality of the clitoris	1584	CYP11B1	OMIM:202010
HP:0000056	Abnormality of the clitoris	1584	CYP11B1	ORPHA:90795
HP:0000056	Abnormality of the clitoris	23522	KAT6B	ORPHA:85201
HP:0000056	Abnormality of the clitoris	23522	KAT6B	OMIM:606170
HP:0000056	Abnormality of the clitoris	2263	FGFR2	OMIM:614592
HP:0000056	Abnormality of the clitoris	2263	FGFR2	ORPHA:313855
HP:0000056	Abnormality of the clitoris	10293	TRAIP	OMIM:616777
HP:0000056	Abnormality of the clitoris	367	AR	ORPHA:90797
HP:0000056	Abnormality of the clitoris	1717	DHCR7	ORPHA:818
HP:0000056	Abnormality of the clitoris	22995	CEP152	OMIM:613823
HP:0000056	Abnormality of the clitoris	10225	CD96	OMIM:211750
HP:0000056	Abnormality of the clitoris	3284	HSD3B2	ORPHA:90791
HP:0000056	Abnormality of the clitoris	5189	PEX1	OMIM:214100
HP:0000056	Abnormality of the clitoris	5189	PEX1	ORPHA:912
HP:0000056	Abnormality of the clitoris	57492	ARID1B	OMIM:135900
HP:0000056	Abnormality of the clitoris	1583	CYP11A1	ORPHA:168558
HP:0000056	Abnormality of the clitoris	1583	CYP11A1	ORPHA:289548
HP:0000056	Abnormality of the clitoris	284654	RSPO1	OMIM:610644
HP:0000056	Abnormality of the clitoris	5468	PPARG	ORPHA:528
HP:0000056	Abnormality of the clitoris	10555	AGPAT2	ORPHA:528
HP:0000056	Abnormality of the clitoris	10555	AGPAT2	OMIM:608594
HP:0000056	Abnormality of the clitoris	284119	CAVIN1	ORPHA:528
HP:0000056	Abnormality of the clitoris	2353	FOS	ORPHA:528
HP:0000056	Abnormality of the clitoris	857	CAV1	ORPHA:528
HP:0000056	Abnormality of the clitoris	114034	TOE1	ORPHA:284339
HP:0000056	Abnormality of the clitoris	9562	MINPP1	ORPHA:284339
HP:0000056	Abnormality of the clitoris	9896	FIG4	ORPHA:3472
HP:0000056	Abnormality of the clitoris	55697	VAC14	ORPHA:3472
HP:0000056	Abnormality of the clitoris	545	ATR	OMIM:210600
HP:0000056	Abnormality of the clitoris	4214	MAP3K1	OMIM:613762
HP:0000056	Abnormality of the clitoris	4214	MAP3K1	ORPHA:251510
HP:0000056	Abnormality of the clitoris	6662	SOX9	ORPHA:251510
HP:0000056	Abnormality of the clitoris	6845	VAMP7	ORPHA:251510
HP:0000056	Abnormality of the clitoris	51741	WWOX	ORPHA:251510
HP:0000056	Abnormality of the clitoris	7490	WT1	ORPHA:251510
HP:0000056	Abnormality of the clitoris	58524	DMRT3	ORPHA:251510
HP:0000056	Abnormality of the clitoris	57647	DHX37	ORPHA:251510
HP:0000056	Abnormality of the clitoris	23414	ZFPM2	ORPHA:251510
HP:0000056	Abnormality of the clitoris	190	NR0B1	ORPHA:251510
HP:0000056	Abnormality of the clitoris	2626	GATA4	ORPHA:251510
HP:0000056	Abnormality of the clitoris	55670	PEX26	ORPHA:912
HP:0000056	Abnormality of the clitoris	5824	PEX19	ORPHA:912
HP:0000056	Abnormality of the clitoris	8504	PEX3	ORPHA:912
HP:0000056	Abnormality of the clitoris	8799	PEX11B	ORPHA:912
HP:0000056	Abnormality of the clitoris	9409	PEX16	ORPHA:912
HP:0000056	Abnormality of the clitoris	5190	PEX6	ORPHA:912
HP:0000056	Abnormality of the clitoris	5193	PEX12	ORPHA:912
HP:0000056	Abnormality of the clitoris	5194	PEX13	ORPHA:912
HP:0000056	Abnormality of the clitoris	5195	PEX14	ORPHA:912
HP:0000056	Abnormality of the clitoris	5192	PEX10	ORPHA:912
HP:0000056	Abnormality of the clitoris	5447	POR	ORPHA:95699
HP:0000058	Abnormal labia morphology	6662	SOX9	ORPHA:251510
HP:0000058	Abnormal labia morphology	6845	VAMP7	ORPHA:251510
HP:0000058	Abnormal labia morphology	51741	WWOX	ORPHA:251510
HP:0000058	Abnormal labia morphology	4214	MAP3K1	ORPHA:251510
HP:0000058	Abnormal labia morphology	7490	WT1	ORPHA:251510
HP:0000058	Abnormal labia morphology	58524	DMRT3	ORPHA:251510
HP:0000058	Abnormal labia morphology	57647	DHX37	ORPHA:251510
HP:0000058	Abnormal labia morphology	6736	SRY	ORPHA:251510
HP:0000058	Abnormal labia morphology	190	NR0B1	ORPHA:251510
HP:0000058	Abnormal labia morphology	2626	GATA4	ORPHA:251510
HP:0000058	Abnormal labia morphology	23476	BRD4	ORPHA:199
HP:0000058	Abnormal labia morphology	9126	SMC3	ORPHA:199
HP:0000058	Abnormal labia morphology	8243	SMC1A	ORPHA:199
HP:0000058	Abnormal labia morphology	25836	NIPBL	ORPHA:199
HP:0000058	Abnormal labia morphology	25836	NIPBL	OMIM:122470
HP:0000058	Abnormal labia morphology	55869	HDAC8	ORPHA:199
HP:0000058	Abnormal labia morphology	5885	RAD21	ORPHA:199
HP:0000058	Abnormal labia morphology	4920	ROR2	OMIM:268310
HP:0000058	Abnormal labia morphology	10664	CTCF	ORPHA:363611
HP:0000058	Abnormal labia morphology	2100	ESR2	OMIM:618187
HP:0000058	Abnormal labia morphology	145173	B3GLCT	OMIM:261540
HP:0000058	Abnormal labia morphology	3664	IRF6	ORPHA:1300
HP:0000058	Abnormal labia morphology	3664	IRF6	OMIM:119500
HP:0000058	Abnormal labia morphology	29957	SLC25A24	OMIM:612289
HP:0000058	Abnormal labia morphology	8626	TP63	OMIM:129400
HP:0000058	Abnormal labia morphology	23347	SMCHD1	OMIM:603457
HP:0000058	Abnormal labia morphology	9896	FIG4	ORPHA:3472
HP:0000058	Abnormal labia morphology	55697	VAC14	ORPHA:3472
HP:0000058	Abnormal labia morphology	54101	RIPK4	OMIM:263650
HP:0000058	Abnormal labia morphology	89910	UBE3B	OMIM:244450
HP:0000058	Abnormal labia morphology	9427	ECEL1	OMIM:615065
HP:0000058	Abnormal labia morphology	55012	PPP2R3C	OMIM:618419
HP:0000058	Abnormal labia morphology	471	ATIC	ORPHA:250977
HP:0000058	Abnormal labia morphology	471	ATIC	OMIM:608688
HP:0000058	Abnormal labia morphology	2263	FGFR2	OMIM:207410
HP:0000058	Abnormal labia morphology	23414	ZFPM2	OMIM:616067
HP:0000058	Abnormal labia morphology	6638	SNRPN	ORPHA:177904
HP:0000058	Abnormal labia morphology	6638	SNRPN	ORPHA:177901
HP:0000058	Abnormal labia morphology	6638	SNRPN	ORPHA:98754
HP:0000058	Abnormal labia morphology	4692	NDN	ORPHA:177904
HP:0000058	Abnormal labia morphology	4692	NDN	ORPHA:177901
HP:0000058	Abnormal labia morphology	4692	NDN	ORPHA:98754
HP:0000058	Abnormal labia morphology	54551	MAGEL2	ORPHA:177904
HP:0000058	Abnormal labia morphology	54551	MAGEL2	ORPHA:177901
HP:0000058	Abnormal labia morphology	54551	MAGEL2	ORPHA:398069
HP:0000058	Abnormal labia morphology	54551	MAGEL2	OMIM:176270
HP:0000058	Abnormal labia morphology	54551	MAGEL2	ORPHA:98754
HP:0000058	Abnormal labia morphology	4948	OCA2	ORPHA:177904
HP:0000058	Abnormal labia morphology	4948	OCA2	ORPHA:177901
HP:0000058	Abnormal labia morphology	4948	OCA2	ORPHA:98754
HP:0000058	Abnormal labia morphology	2571	GAD1	OMIM:619124
HP:0000058	Abnormal labia morphology	4998	ORC1	OMIM:224690
HP:0000058	Abnormal labia morphology	4998	ORC1	ORPHA:2554
HP:0000058	Abnormal labia morphology	1857	DVL3	ORPHA:3107
HP:0000058	Abnormal labia morphology	7474	WNT5A	ORPHA:3107
HP:0000058	Abnormal labia morphology	1855	DVL1	ORPHA:3107
HP:0000058	Abnormal labia morphology	22931	RAB18	OMIM:614222
HP:0000058	Abnormal labia morphology	22931	RAB18	ORPHA:2510
HP:0000058	Abnormal labia morphology	117581	TWIST2	OMIM:209885
HP:0000058	Abnormal labia morphology	6492	SIM1	ORPHA:398079
HP:0000058	Abnormal labia morphology	60	ACTB	ORPHA:64755
HP:0000058	Abnormal labia morphology	26040	SETBP1	OMIM:269150
HP:0000058	Abnormal labia morphology	23594	ORC6	OMIM:613803
HP:0000058	Abnormal labia morphology	23594	ORC6	ORPHA:2554
HP:0000058	Abnormal labia morphology	81620	CDT1	ORPHA:2554
HP:0000058	Abnormal labia morphology	8318	CDC45	ORPHA:2554
HP:0000058	Abnormal labia morphology	990	CDC6	ORPHA:2554
HP:0000058	Abnormal labia morphology	51053	GMNN	ORPHA:2554
HP:0000058	Abnormal labia morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000058	Abnormal labia morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000058	Abnormal labia morphology	128637	TBC1D20	ORPHA:2510
HP:0000058	Abnormal labia morphology	7681	MKRN3	OMIM:176270
HP:0000058	Abnormal labia morphology	3653	IPW	OMIM:176270
HP:0000058	Abnormal labia morphology	791114	PWRN1	OMIM:176270
HP:0000058	Abnormal labia morphology	100033413	SNORD116-1	OMIM:176270
HP:0000058	Abnormal labia morphology	8924	HERC2	OMIM:176270
HP:0000058	Abnormal labia morphology	145624	PWAR1	OMIM:176270
HP:0000058	Abnormal labia morphology	23742	NPAP1	OMIM:176270
HP:0000058	Abnormal labia morphology	338433	SNORD115-1	OMIM:176270
HP:0000058	Abnormal labia morphology	3643	INSR	ORPHA:508
HP:0000058	Abnormal labia morphology	57061	HYMAI	ORPHA:96191
HP:0000058	Abnormal labia morphology	5325	PLAGL1	ORPHA:96191
HP:0000058	Abnormal labia morphology	26580	BSCL2	OMIM:269700
HP:0000058	Abnormal labia morphology	10555	AGPAT2	OMIM:608594
HP:0000058	Abnormal labia morphology	2535	FZD2	OMIM:164745
HP:0000058	Abnormal labia morphology	10236	HNRNPR	OMIM:620073
HP:0000058	Abnormal labia morphology	6595	SMARCA2	OMIM:619293
HP:0000058	Abnormal labia morphology	64840	PORCN	OMIM:305600
HP:0000058	Abnormal labia morphology	367	AR	OMIM:300068
HP:0000058	Abnormal labia morphology	5447	POR	OMIM:201750
HP:0000058	Abnormal labia morphology	92002	CCNQ	ORPHA:140952
HP:0000058	Abnormal labia morphology	92002	CCNQ	OMIM:300707
HP:0000058	Abnormal labia morphology	23522	KAT6B	OMIM:606170
HP:0000058	Abnormal labia morphology	55636	CHD7	OMIM:214800
HP:0000058	Abnormal labia morphology	55636	CHD7	ORPHA:138
HP:0000058	Abnormal labia morphology	5000	ORC4	OMIM:613800
HP:0000058	Abnormal labia morphology	9723	SEMA3E	ORPHA:138
HP:0000058	Abnormal labia morphology	157570	ESCO2	OMIM:268300
HP:0000058	Abnormal labia morphology	1146	CHRNG	OMIM:265000
HP:0000058	Abnormal labia morphology	1146	CHRNG	ORPHA:2990
HP:0000058	Abnormal labia morphology	4621	MYH3	ORPHA:2990
HP:0000058	Abnormal labia morphology	4000	LMNA	OMIM:151660
HP:0000058	Abnormal labia morphology	3991	LIPE	ORPHA:435660
HP:0000058	Abnormal labia morphology	3284	HSD3B2	ORPHA:90791
HP:0000058	Abnormal labia morphology	5373	PMM2	ORPHA:79318
HP:0000058	Abnormal labia morphology	2516	NR5A1	OMIM:617480
HP:0000059	Hypoplastic labia majora	23476	BRD4	ORPHA:199
HP:0000059	Hypoplastic labia majora	9126	SMC3	ORPHA:199
HP:0000059	Hypoplastic labia majora	8243	SMC1A	ORPHA:199
HP:0000059	Hypoplastic labia majora	25836	NIPBL	ORPHA:199
HP:0000059	Hypoplastic labia majora	25836	NIPBL	OMIM:122470
HP:0000059	Hypoplastic labia majora	55869	HDAC8	ORPHA:199
HP:0000059	Hypoplastic labia majora	5885	RAD21	ORPHA:199
HP:0000059	Hypoplastic labia majora	4920	ROR2	OMIM:268310
HP:0000059	Hypoplastic labia majora	10664	CTCF	ORPHA:363611
HP:0000059	Hypoplastic labia majora	4998	ORC1	OMIM:224690
HP:0000059	Hypoplastic labia majora	4998	ORC1	ORPHA:2554
HP:0000059	Hypoplastic labia majora	2100	ESR2	OMIM:618187
HP:0000059	Hypoplastic labia majora	145173	B3GLCT	OMIM:261540
HP:0000059	Hypoplastic labia majora	1857	DVL3	ORPHA:3107
HP:0000059	Hypoplastic labia majora	7474	WNT5A	ORPHA:3107
HP:0000059	Hypoplastic labia majora	7474	WNT5A	OMIM:180700
HP:0000059	Hypoplastic labia majora	1855	DVL1	ORPHA:3107
HP:0000059	Hypoplastic labia majora	1855	DVL1	OMIM:180700
HP:0000059	Hypoplastic labia majora	2535	FZD2	ORPHA:3107
HP:0000059	Hypoplastic labia majora	25782	RAB3GAP2	OMIM:614225
HP:0000059	Hypoplastic labia majora	3664	IRF6	ORPHA:1300
HP:0000059	Hypoplastic labia majora	3664	IRF6	OMIM:119500
HP:0000059	Hypoplastic labia majora	29957	SLC25A24	OMIM:612289
HP:0000059	Hypoplastic labia majora	117581	TWIST2	OMIM:209885
HP:0000059	Hypoplastic labia majora	117581	TWIST2	OMIM:200110
HP:0000059	Hypoplastic labia majora	8626	TP63	OMIM:129400
HP:0000059	Hypoplastic labia majora	81620	CDT1	ORPHA:2554
HP:0000059	Hypoplastic labia majora	5000	ORC4	ORPHA:2554
HP:0000059	Hypoplastic labia majora	5000	ORC4	OMIM:613800
HP:0000059	Hypoplastic labia majora	23594	ORC6	ORPHA:2554
HP:0000059	Hypoplastic labia majora	8318	CDC45	ORPHA:2554
HP:0000059	Hypoplastic labia majora	990	CDC6	ORPHA:2554
HP:0000059	Hypoplastic labia majora	51053	GMNN	ORPHA:2554
HP:0000059	Hypoplastic labia majora	51053	GMNN	OMIM:616835
HP:0000059	Hypoplastic labia majora	23347	SMCHD1	OMIM:603457
HP:0000059	Hypoplastic labia majora	9896	FIG4	ORPHA:3472
HP:0000059	Hypoplastic labia majora	55697	VAC14	ORPHA:3472
HP:0000059	Hypoplastic labia majora	2571	GAD1	OMIM:619124
HP:0000059	Hypoplastic labia majora	54101	RIPK4	OMIM:263650
HP:0000059	Hypoplastic labia majora	89910	UBE3B	OMIM:244450
HP:0000059	Hypoplastic labia majora	9427	ECEL1	OMIM:615065
HP:0000059	Hypoplastic labia majora	55012	PPP2R3C	OMIM:618419
HP:0000059	Hypoplastic labia majora	5447	POR	OMIM:207410
HP:0000059	Hypoplastic labia majora	2263	FGFR2	OMIM:207410
HP:0000059	Hypoplastic labia majora	2263	FGFR2	OMIM:123790
HP:0000059	Hypoplastic labia majora	26040	SETBP1	OMIM:269150
HP:0010271	Enlarged epiphyses of the proximal phalanges of the hand	8200	GDF5	OMIM:113100
HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand	3549	IHH	OMIM:607778
HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand	4883	NPR3	OMIM:619543
HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand	51715	RAB23	OMIM:201000
HP:0010278	Triangular epiphyses of the proximal phalanges of the hand	8200	GDF5	OMIM:113100
HP:0007215	Periodic hyperkalemic paralysis	6329	SCN4A	ORPHA:682
HP:0007215	Periodic hyperkalemic paralysis	6329	SCN4A	OMIM:170500
HP:0007215	Periodic hyperkalemic paralysis	3762	KCNJ5	ORPHA:37553
HP:0007215	Periodic hyperkalemic paralysis	3759	KCNJ2	ORPHA:37553
HP:0030691	Divergence nystagmus	80055	PGAP1	OMIM:615802
HP:0007220	Demyelinating motor neuropathy	246243	RNASEH1	OMIM:616479
HP:0007220	Demyelinating motor neuropathy	85465	SELENOI	ORPHA:506353
HP:0007220	Demyelinating motor neuropathy	57165	GJC2	OMIM:608804
HP:0007220	Demyelinating motor neuropathy	10342	TFG	OMIM:615658
HP:0007220	Demyelinating motor neuropathy	4747	NEFL	ORPHA:99939
HP:0007220	Demyelinating motor neuropathy	4747	NEFL	ORPHA:101085
HP:0007221	Progressive truncal ataxia	154881	KCTD7	ORPHA:263516
HP:0007221	Progressive truncal ataxia	26278	SACS	OMIM:270550
HP:0007305	CNS demyelination	1161	ERCC8	OMIM:216400
HP:0007305	CNS demyelination	1161	ERCC8	ORPHA:90322
HP:0007305	CNS demyelination	2067	ERCC1	ORPHA:90322
HP:0007305	CNS demyelination	2670	GFAP	OMIM:203450
HP:0007305	CNS demyelination	5654	HTRA1	OMIM:600142
HP:0007305	CNS demyelination	113179	ADAT3	ORPHA:363528
HP:0007305	CNS demyelination	215	ABCD1	ORPHA:139396
HP:0007305	CNS demyelination	54872	PIGG	ORPHA:488635
HP:0007305	CNS demyelination	25974	MMACHC	ORPHA:79282
HP:0007305	CNS demyelination	29920	PYCR2	ORPHA:481152
HP:0007305	CNS demyelination	93587	TRMT10A	ORPHA:391408
HP:0007305	CNS demyelination	84919	PPP1R15B	ORPHA:391408
HP:0007305	CNS demyelination	79944	L2HGDH	OMIM:236792
HP:0007305	CNS demyelination	2074	ERCC6	OMIM:214150
HP:0007305	CNS demyelination	51	ACOX1	OMIM:264470
HP:0007305	CNS demyelination	10128	LRPPRC	OMIM:220111
HP:0007305	CNS demyelination	473	RERE	ORPHA:494344
HP:0007305	CNS demyelination	443	ASPA	OMIM:271900
HP:0007305	CNS demyelination	1436	CSF1R	OMIM:221820
HP:0007305	CNS demyelination	4547	MTTP	OMIM:200100
HP:0007305	CNS demyelination	7143	TNR	OMIM:619653
HP:0007305	CNS demyelination	1593	CYP27A1	ORPHA:909
HP:0007305	CNS demyelination	5173	PDYN	OMIM:610245
HP:0007305	CNS demyelination	5824	PEX19	OMIM:614886
HP:0007305	CNS demyelination	2744	GLS	OMIM:618328
HP:0007305	CNS demyelination	3643	INSR	ORPHA:769
HP:0007305	CNS demyelination	4143	MAT1A	OMIM:250850
HP:0007305	CNS demyelination	8496	PPFIBP1	OMIM:620024
HP:0007305	CNS demyelination	285362	SUMF1	OMIM:272200
HP:0007305	CNS demyelination	224	ALDH3A2	OMIM:270200
HP:0007305	CNS demyelination	1967	EIF2B1	OMIM:603896
HP:0007305	CNS demyelination	54209	TREM2	OMIM:618193
HP:0007305	CNS demyelination	5551	PRF1	OMIM:603553
HP:0007305	CNS demyelination	5660	PSAP	OMIM:249900
HP:0007305	CNS demyelination	5660	PSAP	OMIM:611721
HP:0007305	CNS demyelination	11277	TREX1	OMIM:225750
HP:0007305	CNS demyelination	2581	GALC	OMIM:245200
HP:0007305	CNS demyelination	2581	GALC	ORPHA:206448
HP:0007305	CNS demyelination	29078	NDUFAF4	OMIM:618237
HP:0007305	CNS demyelination	3119	HLA-DQB1	OMIM:126200
HP:0007305	CNS demyelination	5133	PDCD1	OMIM:126200
HP:0007305	CNS demyelination	3123	HLA-DRB1	OMIM:126200
HP:0007305	CNS demyelination	5631	PRPS1	ORPHA:1187
HP:0007305	CNS demyelination	5631	PRPS1	OMIM:301835
HP:0007305	CNS demyelination	6311	ATXN2	ORPHA:98756
HP:0000060	Clitoral hypoplasia	2535	FZD2	OMIM:164745
HP:0000060	Clitoral hypoplasia	2535	FZD2	ORPHA:3107
HP:0000060	Clitoral hypoplasia	4920	ROR2	OMIM:268310
HP:0000060	Clitoral hypoplasia	64840	PORCN	OMIM:305600
HP:0000060	Clitoral hypoplasia	6638	SNRPN	ORPHA:177904
HP:0000060	Clitoral hypoplasia	6638	SNRPN	ORPHA:177901
HP:0000060	Clitoral hypoplasia	6638	SNRPN	ORPHA:98754
HP:0000060	Clitoral hypoplasia	4692	NDN	ORPHA:177904
HP:0000060	Clitoral hypoplasia	4692	NDN	ORPHA:177901
HP:0000060	Clitoral hypoplasia	4692	NDN	ORPHA:98754
HP:0000060	Clitoral hypoplasia	54551	MAGEL2	ORPHA:177904
HP:0000060	Clitoral hypoplasia	54551	MAGEL2	ORPHA:177901
HP:0000060	Clitoral hypoplasia	54551	MAGEL2	ORPHA:398069
HP:0000060	Clitoral hypoplasia	54551	MAGEL2	OMIM:176270
HP:0000060	Clitoral hypoplasia	54551	MAGEL2	ORPHA:98754
HP:0000060	Clitoral hypoplasia	4948	OCA2	ORPHA:177904
HP:0000060	Clitoral hypoplasia	4948	OCA2	ORPHA:177901
HP:0000060	Clitoral hypoplasia	4948	OCA2	ORPHA:98754
HP:0000060	Clitoral hypoplasia	1857	DVL3	OMIM:616894
HP:0000060	Clitoral hypoplasia	1857	DVL3	ORPHA:3107
HP:0000060	Clitoral hypoplasia	145173	B3GLCT	OMIM:261540
HP:0000060	Clitoral hypoplasia	145173	B3GLCT	ORPHA:709
HP:0000060	Clitoral hypoplasia	7474	WNT5A	ORPHA:3107
HP:0000060	Clitoral hypoplasia	7474	WNT5A	OMIM:180700
HP:0000060	Clitoral hypoplasia	1855	DVL1	ORPHA:3107
HP:0000060	Clitoral hypoplasia	1855	DVL1	OMIM:180700
HP:0000060	Clitoral hypoplasia	55012	PPP2R3C	OMIM:618419
HP:0000060	Clitoral hypoplasia	6492	SIM1	ORPHA:398079
HP:0000060	Clitoral hypoplasia	25886	POC1A	OMIM:614813
HP:0000060	Clitoral hypoplasia	81620	CDT1	ORPHA:2554
HP:0000060	Clitoral hypoplasia	5000	ORC4	ORPHA:2554
HP:0000060	Clitoral hypoplasia	23594	ORC6	ORPHA:2554
HP:0000060	Clitoral hypoplasia	8318	CDC45	ORPHA:2554
HP:0000060	Clitoral hypoplasia	990	CDC6	ORPHA:2554
HP:0000060	Clitoral hypoplasia	4998	ORC1	ORPHA:2554
HP:0000060	Clitoral hypoplasia	51053	GMNN	ORPHA:2554
HP:0000060	Clitoral hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0000060	Clitoral hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0000060	Clitoral hypoplasia	22931	RAB18	ORPHA:2510
HP:0000060	Clitoral hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0000060	Clitoral hypoplasia	7681	MKRN3	OMIM:176270
HP:0000060	Clitoral hypoplasia	3653	IPW	OMIM:176270
HP:0000060	Clitoral hypoplasia	791114	PWRN1	OMIM:176270
HP:0000060	Clitoral hypoplasia	100033413	SNORD116-1	OMIM:176270
HP:0000060	Clitoral hypoplasia	8924	HERC2	OMIM:176270
HP:0000060	Clitoral hypoplasia	145624	PWAR1	OMIM:176270
HP:0000060	Clitoral hypoplasia	23742	NPAP1	OMIM:176270
HP:0000060	Clitoral hypoplasia	338433	SNORD115-1	OMIM:176270
HP:0000063	Fused labia minora	471	ATIC	ORPHA:250977
HP:0000063	Fused labia minora	471	ATIC	OMIM:608688
HP:0000063	Fused labia minora	5447	POR	OMIM:207410
HP:0000063	Fused labia minora	2263	FGFR2	OMIM:207410
HP:0000063	Fused labia minora	23414	ZFPM2	OMIM:616067
HP:0000064	Hypoplastic labia minora	6638	SNRPN	ORPHA:177904
HP:0000064	Hypoplastic labia minora	6638	SNRPN	ORPHA:177901
HP:0000064	Hypoplastic labia minora	6638	SNRPN	ORPHA:98754
HP:0000064	Hypoplastic labia minora	4692	NDN	ORPHA:177904
HP:0000064	Hypoplastic labia minora	4692	NDN	ORPHA:177901
HP:0000064	Hypoplastic labia minora	4692	NDN	ORPHA:98754
HP:0000064	Hypoplastic labia minora	54551	MAGEL2	ORPHA:177904
HP:0000064	Hypoplastic labia minora	54551	MAGEL2	ORPHA:177901
HP:0000064	Hypoplastic labia minora	54551	MAGEL2	ORPHA:398069
HP:0000064	Hypoplastic labia minora	54551	MAGEL2	OMIM:176270
HP:0000064	Hypoplastic labia minora	54551	MAGEL2	ORPHA:98754
HP:0000064	Hypoplastic labia minora	4948	OCA2	ORPHA:177904
HP:0000064	Hypoplastic labia minora	4948	OCA2	ORPHA:177901
HP:0000064	Hypoplastic labia minora	4948	OCA2	ORPHA:98754
HP:0000064	Hypoplastic labia minora	2571	GAD1	OMIM:619124
HP:0000064	Hypoplastic labia minora	4998	ORC1	OMIM:224690
HP:0000064	Hypoplastic labia minora	4998	ORC1	ORPHA:2554
HP:0000064	Hypoplastic labia minora	1857	DVL3	ORPHA:3107
HP:0000064	Hypoplastic labia minora	7474	WNT5A	ORPHA:3107
HP:0000064	Hypoplastic labia minora	1855	DVL1	ORPHA:3107
HP:0000064	Hypoplastic labia minora	2535	FZD2	ORPHA:3107
HP:0000064	Hypoplastic labia minora	22931	RAB18	OMIM:614222
HP:0000064	Hypoplastic labia minora	22931	RAB18	ORPHA:2510
HP:0000064	Hypoplastic labia minora	117581	TWIST2	OMIM:209885
HP:0000064	Hypoplastic labia minora	6492	SIM1	ORPHA:398079
HP:0000064	Hypoplastic labia minora	60	ACTB	ORPHA:64755
HP:0000064	Hypoplastic labia minora	26040	SETBP1	OMIM:269150
HP:0000064	Hypoplastic labia minora	23594	ORC6	OMIM:613803
HP:0000064	Hypoplastic labia minora	23594	ORC6	ORPHA:2554
HP:0000064	Hypoplastic labia minora	81620	CDT1	ORPHA:2554
HP:0000064	Hypoplastic labia minora	5000	ORC4	ORPHA:2554
HP:0000064	Hypoplastic labia minora	8318	CDC45	ORPHA:2554
HP:0000064	Hypoplastic labia minora	990	CDC6	ORPHA:2554
HP:0000064	Hypoplastic labia minora	51053	GMNN	ORPHA:2554
HP:0000064	Hypoplastic labia minora	22930	RAB3GAP1	ORPHA:2510
HP:0000064	Hypoplastic labia minora	25782	RAB3GAP2	ORPHA:2510
HP:0000064	Hypoplastic labia minora	128637	TBC1D20	ORPHA:2510
HP:0000064	Hypoplastic labia minora	7681	MKRN3	OMIM:176270
HP:0000064	Hypoplastic labia minora	3653	IPW	OMIM:176270
HP:0000064	Hypoplastic labia minora	791114	PWRN1	OMIM:176270
HP:0000064	Hypoplastic labia minora	100033413	SNORD116-1	OMIM:176270
HP:0000064	Hypoplastic labia minora	8924	HERC2	OMIM:176270
HP:0000064	Hypoplastic labia minora	145624	PWAR1	OMIM:176270
HP:0000064	Hypoplastic labia minora	23742	NPAP1	OMIM:176270
HP:0000064	Hypoplastic labia minora	338433	SNORD115-1	OMIM:176270
HP:0000065	Labial hypertrophy	3643	INSR	ORPHA:508
HP:0000065	Labial hypertrophy	57061	HYMAI	ORPHA:96191
HP:0000065	Labial hypertrophy	5325	PLAGL1	ORPHA:96191
HP:0000065	Labial hypertrophy	26580	BSCL2	OMIM:269700
HP:0000065	Labial hypertrophy	10555	AGPAT2	OMIM:608594
HP:0000065	Labial hypertrophy	23522	KAT6B	OMIM:606170
HP:0000065	Labial hypertrophy	157570	ESCO2	OMIM:268300
HP:0000065	Labial hypertrophy	4000	LMNA	OMIM:151660
HP:0000066	Labial hypoplasia	23476	BRD4	ORPHA:199
HP:0000066	Labial hypoplasia	9126	SMC3	ORPHA:199
HP:0000066	Labial hypoplasia	8243	SMC1A	ORPHA:199
HP:0000066	Labial hypoplasia	25836	NIPBL	ORPHA:199
HP:0000066	Labial hypoplasia	25836	NIPBL	OMIM:122470
HP:0000066	Labial hypoplasia	55869	HDAC8	ORPHA:199
HP:0000066	Labial hypoplasia	5885	RAD21	ORPHA:199
HP:0000066	Labial hypoplasia	4920	ROR2	OMIM:268310
HP:0000066	Labial hypoplasia	10664	CTCF	ORPHA:363611
HP:0000066	Labial hypoplasia	2100	ESR2	OMIM:618187
HP:0000066	Labial hypoplasia	145173	B3GLCT	OMIM:261540
HP:0000066	Labial hypoplasia	3664	IRF6	ORPHA:1300
HP:0000066	Labial hypoplasia	3664	IRF6	OMIM:119500
HP:0000066	Labial hypoplasia	29957	SLC25A24	OMIM:612289
HP:0000066	Labial hypoplasia	8626	TP63	OMIM:129400
HP:0000066	Labial hypoplasia	23347	SMCHD1	OMIM:603457
HP:0000066	Labial hypoplasia	9896	FIG4	ORPHA:3472
HP:0000066	Labial hypoplasia	55697	VAC14	ORPHA:3472
HP:0000066	Labial hypoplasia	54101	RIPK4	OMIM:263650
HP:0000066	Labial hypoplasia	89910	UBE3B	OMIM:244450
HP:0000066	Labial hypoplasia	9427	ECEL1	OMIM:615065
HP:0000066	Labial hypoplasia	55012	PPP2R3C	OMIM:618419
HP:0000066	Labial hypoplasia	2263	FGFR2	OMIM:207410
HP:0000066	Labial hypoplasia	2263	FGFR2	OMIM:123790
HP:0000066	Labial hypoplasia	6638	SNRPN	ORPHA:177904
HP:0000066	Labial hypoplasia	6638	SNRPN	ORPHA:177901
HP:0000066	Labial hypoplasia	6638	SNRPN	ORPHA:98754
HP:0000066	Labial hypoplasia	4692	NDN	ORPHA:177904
HP:0000066	Labial hypoplasia	4692	NDN	ORPHA:177901
HP:0000066	Labial hypoplasia	4692	NDN	ORPHA:98754
HP:0000066	Labial hypoplasia	54551	MAGEL2	ORPHA:177904
HP:0000066	Labial hypoplasia	54551	MAGEL2	ORPHA:177901
HP:0000066	Labial hypoplasia	54551	MAGEL2	ORPHA:398069
HP:0000066	Labial hypoplasia	54551	MAGEL2	OMIM:176270
HP:0000066	Labial hypoplasia	54551	MAGEL2	ORPHA:98754
HP:0000066	Labial hypoplasia	4948	OCA2	ORPHA:177904
HP:0000066	Labial hypoplasia	4948	OCA2	ORPHA:177901
HP:0000066	Labial hypoplasia	4948	OCA2	ORPHA:98754
HP:0000066	Labial hypoplasia	2571	GAD1	OMIM:619124
HP:0000066	Labial hypoplasia	4998	ORC1	OMIM:224690
HP:0000066	Labial hypoplasia	4998	ORC1	ORPHA:2554
HP:0000066	Labial hypoplasia	1857	DVL3	ORPHA:3107
HP:0000066	Labial hypoplasia	7474	WNT5A	ORPHA:3107
HP:0000066	Labial hypoplasia	1855	DVL1	ORPHA:3107
HP:0000066	Labial hypoplasia	22931	RAB18	OMIM:614222
HP:0000066	Labial hypoplasia	22931	RAB18	ORPHA:2510
HP:0000066	Labial hypoplasia	117581	TWIST2	OMIM:209885
HP:0000066	Labial hypoplasia	6492	SIM1	ORPHA:398079
HP:0000066	Labial hypoplasia	60	ACTB	ORPHA:64755
HP:0000066	Labial hypoplasia	26040	SETBP1	OMIM:269150
HP:0000066	Labial hypoplasia	23594	ORC6	OMIM:613803
HP:0000066	Labial hypoplasia	23594	ORC6	ORPHA:2554
HP:0000066	Labial hypoplasia	81620	CDT1	ORPHA:2554
HP:0000066	Labial hypoplasia	8318	CDC45	ORPHA:2554
HP:0000066	Labial hypoplasia	990	CDC6	ORPHA:2554
HP:0000066	Labial hypoplasia	51053	GMNN	ORPHA:2554
HP:0000066	Labial hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0000066	Labial hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0000066	Labial hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0000066	Labial hypoplasia	7681	MKRN3	OMIM:176270
HP:0000066	Labial hypoplasia	3653	IPW	OMIM:176270
HP:0000066	Labial hypoplasia	791114	PWRN1	OMIM:176270
HP:0000066	Labial hypoplasia	100033413	SNORD116-1	OMIM:176270
HP:0000066	Labial hypoplasia	8924	HERC2	OMIM:176270
HP:0000066	Labial hypoplasia	145624	PWAR1	OMIM:176270
HP:0000066	Labial hypoplasia	23742	NPAP1	OMIM:176270
HP:0000066	Labial hypoplasia	338433	SNORD115-1	OMIM:176270
HP:0000066	Labial hypoplasia	2535	FZD2	OMIM:164745
HP:0000066	Labial hypoplasia	10236	HNRNPR	OMIM:620073
HP:0000066	Labial hypoplasia	6595	SMARCA2	OMIM:619293
HP:0000066	Labial hypoplasia	64840	PORCN	OMIM:305600
HP:0000066	Labial hypoplasia	367	AR	OMIM:300068
HP:0000066	Labial hypoplasia	5447	POR	OMIM:201750
HP:0000066	Labial hypoplasia	92002	CCNQ	ORPHA:140952
HP:0000066	Labial hypoplasia	92002	CCNQ	OMIM:300707
HP:0000066	Labial hypoplasia	23522	KAT6B	OMIM:606170
HP:0000066	Labial hypoplasia	55636	CHD7	OMIM:214800
HP:0000066	Labial hypoplasia	55636	CHD7	ORPHA:138
HP:0000066	Labial hypoplasia	5000	ORC4	OMIM:613800
HP:0000066	Labial hypoplasia	9723	SEMA3E	ORPHA:138
HP:0000068	Urethral atresia	8626	TP63	ORPHA:1896
HP:0000068	Urethral atresia	84314	TMEM107	ORPHA:564
HP:0000068	Urethral atresia	26123	TCTN3	ORPHA:564
HP:0000068	Urethral atresia	79867	TCTN2	ORPHA:564
HP:0000068	Urethral atresia	80776	B9D2	ORPHA:564
HP:0000068	Urethral atresia	79600	TCTN1	ORPHA:564
HP:0000068	Urethral atresia	57096	RPGRIP1	ORPHA:564
HP:0000068	Urethral atresia	79848	CSPP1	ORPHA:564
HP:0000068	Urethral atresia	80184	CEP290	ORPHA:564
HP:0000068	Urethral atresia	51259	TMEM216	ORPHA:564
HP:0000068	Urethral atresia	57545	CC2D2A	ORPHA:564
HP:0000068	Urethral atresia	79583	TMEM231	ORPHA:564
HP:0000068	Urethral atresia	91147	TMEM67	ORPHA:564
HP:0000068	Urethral atresia	79770	TXNDC15	ORPHA:564
HP:0000068	Urethral atresia	27077	B9D1	ORPHA:564
HP:0000068	Urethral atresia	23322	RPGRIP1L	ORPHA:564
HP:0000068	Urethral atresia	54903	MKS1	ORPHA:564
HP:0000068	Urethral atresia	65062	TMEM237	ORPHA:564
HP:0000068	Urethral atresia	2187	FANCB	OMIM:314390
HP:0000068	Urethral atresia	7547	ZIC3	OMIM:314390
HP:0000068	Urethral atresia	341640	FREM2	ORPHA:2052
HP:0000068	Urethral atresia	80144	FRAS1	ORPHA:2052
HP:0000068	Urethral atresia	23426	GRIP1	ORPHA:2052
HP:0000068	Urethral atresia	7473	WNT3	OMIM:273395
HP:0010281	Cleft lower lip	9487	PIGL	OMIM:280000
HP:0010282	Thin lower lip vermilion	9653	HS2ST1	OMIM:619194
HP:0010282	Thin lower lip vermilion	79228	THOC6	ORPHA:363444
HP:0010282	Thin lower lip vermilion	23556	PIGN	ORPHA:280633
HP:0010282	Thin lower lip vermilion	90417	KNSTRN	OMIM:613328
HP:0010282	Thin lower lip vermilion	90417	KNSTRN	ORPHA:221139
HP:0010282	Thin lower lip vermilion	5293	PIK3CD	OMIM:613328
HP:0010282	Thin lower lip vermilion	5293	PIK3CD	ORPHA:221139
HP:0010280	Stomatitis	6774	STAT3	ORPHA:520
HP:0010280	Stomatitis	5371	PML	ORPHA:520
HP:0010280	Stomatitis	5914	RARA	ORPHA:520
HP:0010280	Stomatitis	359948	IRF2BP2	ORPHA:520
HP:0010280	Stomatitis	81608	FIP1L1	ORPHA:520
HP:0010280	Stomatitis	4869	NPM1	ORPHA:520
HP:0010280	Stomatitis	5573	PRKAR1A	ORPHA:520
HP:0010280	Stomatitis	54880	BCOR	ORPHA:520
HP:0010280	Stomatitis	64859	NABP1	ORPHA:520
HP:0010280	Stomatitis	6777	STAT5B	ORPHA:520
HP:0010280	Stomatitis	4926	NUMA1	ORPHA:520
HP:0010280	Stomatitis	7704	ZBTB16	ORPHA:520
HP:0010280	Stomatitis	79718	TBL1XR1	ORPHA:520
HP:0010280	Stomatitis	2642	GCGR	ORPHA:438274
HP:0010280	Stomatitis	3702	ITK	OMIM:613011
HP:0010280	Stomatitis	84876	ORAI1	OMIM:612782
HP:0010280	Stomatitis	399	RHOH	OMIM:618307
HP:0010280	Stomatitis	10379	IRF9	OMIM:618648
HP:0010280	Stomatitis	55788	LMBRD1	OMIM:277380
HP:0010280	Stomatitis	55788	LMBRD1	ORPHA:79284
HP:0010280	Stomatitis	3557	IL1RN	OMIM:612852
HP:0010280	Stomatitis	25974	MMACHC	ORPHA:79282
HP:0010280	Stomatitis	3117	HLA-DQA1	OMIM:212750
HP:0010280	Stomatitis	3119	HLA-DQB1	OMIM:212750
HP:0010280	Stomatitis	7535	ZAP70	ORPHA:911
HP:0010280	Stomatitis	8942	KYNU	ORPHA:79155
HP:0010280	Stomatitis	959	CD40LG	OMIM:308230
HP:0010280	Stomatitis	2542	SLC37A4	OMIM:232240
HP:0010280	Stomatitis	114548	NLRP3	ORPHA:575
HP:0010280	Stomatitis	114548	NLRP3	OMIM:191900
HP:0010280	Stomatitis	355	FAS	ORPHA:3261
HP:0010280	Stomatitis	355	FAS	ORPHA:117
HP:0010280	Stomatitis	356	FASLG	ORPHA:3261
HP:0010280	Stomatitis	5580	PRKCD	ORPHA:3261
HP:0010280	Stomatitis	843	CASP10	ORPHA:3261
HP:0010280	Stomatitis	10125	RASGRP1	ORPHA:3261
HP:0010280	Stomatitis	64421	DCLRE1C	ORPHA:275
HP:0010280	Stomatitis	1053	CEBPE	OMIM:260570
HP:0010280	Stomatitis	54941	RNF125	OMIM:616260
HP:0010280	Stomatitis	54453	RIN2	OMIM:613075
HP:0010280	Stomatitis	6097	RORC	OMIM:616622
HP:0010280	Stomatitis	84818	IL17RC	OMIM:616445
HP:0010280	Stomatitis	51311	TLR8	OMIM:301078
HP:0010280	Stomatitis	4598	MVK	ORPHA:343
HP:0010280	Stomatitis	10312	TCIRG1	ORPHA:486
HP:0010280	Stomatitis	1991	ELANE	ORPHA:486
HP:0010280	Stomatitis	2672	GFI1	ORPHA:486
HP:0010280	Stomatitis	6729	SRP54	ORPHA:486
HP:0010280	Stomatitis	81570	CLPB	ORPHA:486
HP:0010280	Stomatitis	3106	HLA-B	ORPHA:29207
HP:0010280	Stomatitis	3106	HLA-B	ORPHA:117
HP:0010280	Stomatitis	9948	WDR1	OMIM:150550
HP:0010280	Stomatitis	64127	NOD2	OMIM:266600
HP:0010280	Stomatitis	3569	IL6	OMIM:266600
HP:0010280	Stomatitis	146206	CARMIL2	OMIM:618131
HP:0010280	Stomatitis	10525	HYOU1	OMIM:233600
HP:0010280	Stomatitis	10892	MALT1	OMIM:615468
HP:0010280	Stomatitis	4689	NCF4	OMIM:613960
HP:0010280	Stomatitis	148022	TICAM1	OMIM:614850
HP:0010280	Stomatitis	5591	PRKDC	OMIM:615966
HP:0010280	Stomatitis	91662	NLRP12	OMIM:611762
HP:0010280	Stomatitis	149233	IL23R	ORPHA:117
HP:0010280	Stomatitis	6775	STAT4	ORPHA:117
HP:0010280	Stomatitis	3586	IL10	ORPHA:117
HP:0010280	Stomatitis	4210	MEFV	ORPHA:117
HP:0010280	Stomatitis	1230	CCR1	ORPHA:117
HP:0010280	Stomatitis	3592	IL12A	ORPHA:117
HP:0010280	Stomatitis	101928376	IL12A-AS1	ORPHA:117
HP:0010280	Stomatitis	7099	TLR4	ORPHA:117
HP:0010280	Stomatitis	3459	IFNGR1	ORPHA:117
HP:0010280	Stomatitis	720	C4A	ORPHA:117
HP:0010280	Stomatitis	337867	UBAC2	ORPHA:117
HP:0010280	Stomatitis	51752	ERAP1	ORPHA:117
HP:0010280	Stomatitis	8302	KLRC4	ORPHA:117
HP:0010285	Oral synechia	23483	TGDS	ORPHA:1388
HP:0010285	Oral synechia	54101	RIPK4	OMIM:263650
HP:0010285	Oral synechia	26123	TCTN3	ORPHA:2753
HP:0010286	Abnormal salivary gland morphology	6949	TCOF1	OMIM:154500
HP:0010286	Abnormal salivary gland morphology	2263	FGFR2	OMIM:149730
HP:0010286	Abnormal salivary gland morphology	8626	TP63	OMIM:604292
HP:0010286	Abnormal salivary gland morphology	4967	OGDH	ORPHA:31
HP:0010286	Abnormal salivary gland morphology	2261	FGFR3	ORPHA:2363
HP:0010286	Abnormal salivary gland morphology	2255	FGF10	ORPHA:2363
HP:0010286	Abnormal salivary gland morphology	64127	NOD2	ORPHA:90340
HP:0010286	Abnormal salivary gland morphology	567	B2M	ORPHA:314652
HP:0010286	Abnormal salivary gland morphology	3664	IRF6	ORPHA:888
HP:0010286	Abnormal salivary gland morphology	57822	GRHL3	ORPHA:888
HP:0010286	Abnormal salivary gland morphology	56244	BTNL2	ORPHA:797
HP:0010286	Abnormal salivary gland morphology	3123	HLA-DRB1	ORPHA:797
HP:0010286	Abnormal salivary gland morphology	488	ATP2A2	OMIM:124200
HP:0010286	Abnormal salivary gland morphology	7852	CXCR4	ORPHA:51636
HP:0010286	Abnormal salivary gland morphology	5696	PSMB8	OMIM:256040
HP:0010286	Abnormal salivary gland morphology	5324	PLAG1	OMIM:181030
HP:0010286	Abnormal salivary gland morphology	4292	MLH1	ORPHA:587
HP:0010286	Abnormal salivary gland morphology	2956	MSH6	ORPHA:587
HP:0010286	Abnormal salivary gland morphology	4436	MSH2	ORPHA:587
HP:0010289	Cleft maxillary alveolar ridge	9775	EIF4A3	OMIM:268305
HP:0010289	Cleft maxillary alveolar ridge	22827	PUF60	ORPHA:508488
HP:0010289	Cleft maxillary alveolar ridge	81788	NUAK2	OMIM:619452
HP:0010289	Cleft maxillary alveolar ridge	4750	NEK1	ORPHA:2751
HP:0010284	Intra-oral hyperpigmentation	84196	USP48	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	7157	TP53	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	9101	USP8	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	64072	CDH23	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	2908	NR3C1	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	673	BRAF	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	546	ATRX	ORPHA:96253
HP:0010284	Intra-oral hyperpigmentation	10651	MTX2	OMIM:619127
HP:0010284	Intra-oral hyperpigmentation	215	ABCD1	ORPHA:139399
HP:0007227	Macrogyria	8573	CASK	OMIM:300749
HP:0007227	Macrogyria	5354	PLP1	ORPHA:280210
HP:0007227	Macrogyria	5828	PEX2	OMIM:614866
HP:0007227	Macrogyria	4784	NFIX	OMIM:602535
HP:0007227	Macrogyria	1718	DHCR24	ORPHA:35107
HP:0007227	Macrogyria	71	ACTG1	ORPHA:2995
HP:0007227	Macrogyria	60	ACTB	ORPHA:2995
HP:0007227	Macrogyria	84892	POMGNT2	ORPHA:899
HP:0007227	Macrogyria	148789	B3GALNT2	ORPHA:899
HP:0007227	Macrogyria	79147	FKRP	ORPHA:899
HP:0007227	Macrogyria	29954	POMT2	ORPHA:899
HP:0007227	Macrogyria	9215	LARGE1	ORPHA:899
HP:0007227	Macrogyria	1282	COL4A1	ORPHA:899
HP:0007227	Macrogyria	729920	CRPPA	ORPHA:899
HP:0007227	Macrogyria	10329	RXYLT1	ORPHA:899
HP:0007227	Macrogyria	1605	DAG1	ORPHA:899
HP:0007227	Macrogyria	11041	B4GAT1	ORPHA:899
HP:0007227	Macrogyria	10585	POMT1	ORPHA:899
HP:0007227	Macrogyria	84197	POMK	ORPHA:899
HP:0007227	Macrogyria	2218	FKTN	ORPHA:899
HP:0007227	Macrogyria	55624	POMGNT1	ORPHA:899
HP:0007229	Intracerebral periventricular calcifications	727676	SNORD118	ORPHA:542310
HP:0007229	Intracerebral periventricular calcifications	1376	CPT2	OMIM:608836
HP:0007229	Intracerebral periventricular calcifications	1376	CPT2	ORPHA:228308
HP:0007229	Intracerebral periventricular calcifications	64135	IFIH1	OMIM:615846
HP:0007229	Intracerebral periventricular calcifications	25939	SAMHD1	OMIM:612952
HP:0007229	Intracerebral periventricular calcifications	6513	SLC2A1	OMIM:608885
HP:0007229	Intracerebral periventricular calcifications	6513	SLC2A1	ORPHA:168577
HP:0007229	Intracerebral periventricular calcifications	11277	TREX1	OMIM:225750
HP:0030690	Gingival cleft	219844	HYLS1	ORPHA:2189
HP:0030690	Gingival cleft	374654	KIF7	ORPHA:2189
HP:0030690	Gingival cleft	4089	SMAD4	ORPHA:2588
HP:0007230	Decreased distal sensory nerve action potential	59341	TRPV4	OMIM:606071
HP:0007230	Decreased distal sensory nerve action potential	22880	MORC2	ORPHA:466768
HP:0007230	Decreased distal sensory nerve action potential	54332	GDAP1	OMIM:607706
HP:0007230	Decreased distal sensory nerve action potential	5981	RFC1	OMIM:614575
HP:0007230	Decreased distal sensory nerve action potential	81846	SBF2	ORPHA:99956
HP:0007230	Decreased distal sensory nerve action potential	4747	NEFL	OMIM:607684
HP:0007230	Decreased distal sensory nerve action potential	4358	MPV17	OMIM:618400
HP:0007230	Decreased distal sensory nerve action potential	9516	LITAF	OMIM:601098
HP:0007230	Decreased distal sensory nerve action potential	3098	HK1	ORPHA:99953
HP:0007232	Spinocerebellar tract disease in lower limbs	4125	MAN2B1	OMIM:248500
HP:0007233	Clusters of axonal regeneration	4747	NEFL	OMIM:607734
HP:0007233	Clusters of axonal regeneration	4000	LMNA	ORPHA:98856
HP:0007233	Clusters of axonal regeneration	54332	GDAP1	ORPHA:101097
HP:0000070	Ureterocele	3655	ITGA6	ORPHA:79403
HP:0000070	Ureterocele	3691	ITGB4	ORPHA:79403
HP:0000070	Ureterocele	3691	ITGB4	ORPHA:158684
HP:0000070	Ureterocele	3909	LAMA3	ORPHA:79404
HP:0000070	Ureterocele	3918	LAMC2	ORPHA:79404
HP:0000070	Ureterocele	3914	LAMB3	ORPHA:79404
HP:0000070	Ureterocele	3975	LHX1	ORPHA:261265
HP:0000070	Ureterocele	6928	HNF1B	ORPHA:261265
HP:0000070	Ureterocele	5339	PLEC	ORPHA:158684
HP:0000070	Ureterocele	5190	PEX6	OMIM:614863
HP:0000070	Ureterocele	10982	MAPRE2	OMIM:616734
HP:0000070	Ureterocele	6792	CDKL5	ORPHA:1934
HP:0000070	Ureterocele	3736	KCNA1	ORPHA:1934
HP:0000070	Ureterocele	9091	PIGQ	ORPHA:1934
HP:0000070	Ureterocele	2775	GNAO1	ORPHA:1934
HP:0000070	Ureterocele	81603	TRIM8	ORPHA:1934
HP:0000070	Ureterocele	2902	GRIN1	ORPHA:1934
HP:0000070	Ureterocele	79751	SLC25A22	ORPHA:1934
HP:0000070	Ureterocele	150094	SIK1	ORPHA:1934
HP:0000070	Ureterocele	8573	CASK	ORPHA:1934
HP:0000070	Ureterocele	23312	DMXL2	ORPHA:1934
HP:0000070	Ureterocele	2917	GRM7	ORPHA:1934
HP:0000070	Ureterocele	170302	ARX	ORPHA:1934
HP:0000070	Ureterocele	11284	PNKP	ORPHA:1934
HP:0000070	Ureterocele	6326	SCN2A	ORPHA:1934
HP:0000070	Ureterocele	51227	PIGP	ORPHA:1934
HP:0000070	Ureterocele	6324	SCN1B	ORPHA:1934
HP:0000070	Ureterocele	4761	NEUROD2	ORPHA:1934
HP:0000070	Ureterocele	8626	TP63	OMIM:604292
HP:0000071	Ureteral stenosis	2316	FLNA	OMIM:309350
HP:0000071	Ureteral stenosis	1009	CDH11	ORPHA:1299
HP:0000071	Ureteral stenosis	1493	CTLA4	ORPHA:900
HP:0000071	Ureteral stenosis	26191	PTPN22	ORPHA:900
HP:0000071	Ureteral stenosis	3115	HLA-DPB1	ORPHA:900
HP:0000071	Ureteral stenosis	5657	PRTN3	ORPHA:900
HP:0000071	Ureteral stenosis	3113	HLA-DPA1	ORPHA:900
HP:0000071	Ureteral stenosis	26040	SETBP1	OMIM:269150
HP:0000071	Ureteral stenosis	4838	NODAL	OMIM:270100
HP:0000071	Ureteral stenosis	51604	PIGT	OMIM:615398
HP:0000071	Ureteral stenosis	7528	YY1	ORPHA:506358
HP:0000071	Ureteral stenosis	7528	YY1	OMIM:617557
HP:0000071	Ureteral stenosis	7355	SLC35A2	OMIM:300896
HP:0000071	Ureteral stenosis	6928	HNF1B	OMIM:137920
HP:0000071	Ureteral stenosis	9487	PIGL	OMIM:280000
HP:0000071	Ureteral stenosis	64321	SOX17	OMIM:613674
HP:0000071	Ureteral stenosis	3209	HOXA13	OMIM:140000
HP:0000071	Ureteral stenosis	3209	HOXA13	ORPHA:2438
HP:0000071	Ureteral stenosis	10992	SF3B2	OMIM:164210
HP:0000071	Ureteral stenosis	2138	EYA1	ORPHA:107
HP:0000071	Ureteral stenosis	147912	SIX5	ORPHA:107
HP:0000071	Ureteral stenosis	6495	SIX1	ORPHA:107
HP:0000071	Ureteral stenosis	64324	NSD1	ORPHA:821
HP:0000071	Ureteral stenosis	29072	SETD2	ORPHA:821
HP:0000071	Ureteral stenosis	10297	APC2	ORPHA:821
HP:0000071	Ureteral stenosis	25778	DSTYK	OMIM:610805
HP:0000071	Ureteral stenosis	1717	DHCR7	OMIM:270400
HP:0000071	Ureteral stenosis	1717	DHCR7	ORPHA:818
HP:0000071	Ureteral stenosis	2972	BRF1	ORPHA:444072
HP:0000071	Ureteral stenosis	7750	ZMYM2	OMIM:619522
HP:0000071	Ureteral stenosis	2782	GNB1	OMIM:616973
HP:0000071	Ureteral stenosis	10861	SLC26A1	OMIM:167030
HP:0000071	Ureteral stenosis	8085	KMT2D	ORPHA:2322
HP:0000071	Ureteral stenosis	8085	KMT2D	OMIM:147920
HP:0000071	Ureteral stenosis	7403	KDM6A	ORPHA:2322
HP:0000071	Ureteral stenosis	7403	KDM6A	OMIM:147920
HP:0000071	Ureteral stenosis	4654	MYOD1	OMIM:618975
HP:0000071	Ureteral stenosis	9096	TBX18	OMIM:143400
HP:0000073	Ureteral duplication	1376	CPT2	OMIM:608836
HP:0000073	Ureteral duplication	23556	PIGN	OMIM:614080
HP:0000073	Ureteral duplication	8312	AXIN1	OMIM:607864
HP:0000073	Ureteral duplication	2239	GPC4	ORPHA:373
HP:0000073	Ureteral duplication	2719	GPC3	ORPHA:373
HP:0000073	Ureteral duplication	388662	SLC6A17	ORPHA:457212
HP:0000073	Ureteral duplication	54892	NCAPG2	OMIM:618460
HP:0000073	Ureteral duplication	145173	B3GLCT	OMIM:261540
HP:0000073	Ureteral duplication	145173	B3GLCT	ORPHA:709
HP:0000073	Ureteral duplication	4000	LMNA	ORPHA:1662
HP:0000073	Ureteral duplication	10269	ZMPSTE24	ORPHA:1662
HP:0000073	Ureteral duplication	10269	ZMPSTE24	OMIM:275210
HP:0000073	Ureteral duplication	284252	KCTD1	ORPHA:2036
HP:0000073	Ureteral duplication	2627	GATA6	ORPHA:2255
HP:0000073	Ureteral duplication	2627	GATA6	OMIM:600001
HP:0000073	Ureteral duplication	5718	PSMD12	OMIM:617516
HP:0000073	Ureteral duplication	9939	RBM8A	OMIM:274000
HP:0000073	Ureteral duplication	4838	NODAL	OMIM:270100
HP:0000073	Ureteral duplication	81839	VANGL1	ORPHA:3027
HP:0000073	Ureteral duplication	80199	FUZ	ORPHA:3027
HP:0000073	Ureteral duplication	64324	NSD1	ORPHA:821
HP:0000073	Ureteral duplication	29072	SETD2	ORPHA:821
HP:0000073	Ureteral duplication	10297	APC2	ORPHA:821
HP:0000073	Ureteral duplication	10653	SPINT2	OMIM:270420
HP:0000073	Ureteral duplication	84314	TMEM107	ORPHA:564
HP:0000073	Ureteral duplication	26123	TCTN3	ORPHA:564
HP:0000073	Ureteral duplication	79867	TCTN2	ORPHA:564
HP:0000073	Ureteral duplication	80776	B9D2	ORPHA:564
HP:0000073	Ureteral duplication	79600	TCTN1	ORPHA:564
HP:0000073	Ureteral duplication	57096	RPGRIP1	ORPHA:564
HP:0000073	Ureteral duplication	79848	CSPP1	ORPHA:564
HP:0000073	Ureteral duplication	80184	CEP290	ORPHA:564
HP:0000073	Ureteral duplication	51259	TMEM216	ORPHA:564
HP:0000073	Ureteral duplication	57545	CC2D2A	ORPHA:564
HP:0000073	Ureteral duplication	79583	TMEM231	ORPHA:564
HP:0000073	Ureteral duplication	91147	TMEM67	ORPHA:564
HP:0000073	Ureteral duplication	79770	TXNDC15	ORPHA:564
HP:0000073	Ureteral duplication	27077	B9D1	ORPHA:564
HP:0000073	Ureteral duplication	23322	RPGRIP1L	ORPHA:564
HP:0000073	Ureteral duplication	54903	MKS1	ORPHA:564
HP:0000073	Ureteral duplication	65062	TMEM237	ORPHA:564
HP:0000073	Ureteral duplication	9742	IFT140	OMIM:266920
HP:0000073	Ureteral duplication	6654	SOS1	OMIM:610733
HP:0000073	Ureteral duplication	64321	SOX17	OMIM:613674
HP:0000073	Ureteral duplication	80781	COL18A1	OMIM:267750
HP:0000073	Ureteral duplication	80781	COL18A1	ORPHA:1571
HP:0000073	Ureteral duplication	9158	FIBP	OMIM:617107
HP:0000073	Ureteral duplication	9158	FIBP	ORPHA:500095
HP:0000073	Ureteral duplication	64840	PORCN	OMIM:305600
HP:0000073	Ureteral duplication	5062	PAK2	ORPHA:1571
HP:0000073	Ureteral duplication	5087	PBX1	OMIM:617641
HP:0000074	Ureteropelvic junction obstruction	7528	YY1	ORPHA:506358
HP:0000074	Ureteropelvic junction obstruction	7528	YY1	OMIM:617557
HP:0000074	Ureteropelvic junction obstruction	7355	SLC35A2	OMIM:300896
HP:0000074	Ureteropelvic junction obstruction	6928	HNF1B	OMIM:137920
HP:0000074	Ureteropelvic junction obstruction	9487	PIGL	OMIM:280000
HP:0000074	Ureteropelvic junction obstruction	64321	SOX17	OMIM:613674
HP:0000074	Ureteropelvic junction obstruction	3209	HOXA13	OMIM:140000
HP:0000074	Ureteropelvic junction obstruction	3209	HOXA13	ORPHA:2438
HP:0000074	Ureteropelvic junction obstruction	10992	SF3B2	OMIM:164210
HP:0000074	Ureteropelvic junction obstruction	2138	EYA1	ORPHA:107
HP:0000074	Ureteropelvic junction obstruction	147912	SIX5	ORPHA:107
HP:0000074	Ureteropelvic junction obstruction	6495	SIX1	ORPHA:107
HP:0000074	Ureteropelvic junction obstruction	64324	NSD1	ORPHA:821
HP:0000074	Ureteropelvic junction obstruction	29072	SETD2	ORPHA:821
HP:0000074	Ureteropelvic junction obstruction	10297	APC2	ORPHA:821
HP:0000074	Ureteropelvic junction obstruction	25778	DSTYK	OMIM:610805
HP:0000074	Ureteropelvic junction obstruction	1717	DHCR7	OMIM:270400
HP:0000074	Ureteropelvic junction obstruction	1717	DHCR7	ORPHA:818
HP:0000074	Ureteropelvic junction obstruction	2972	BRF1	ORPHA:444072
HP:0000074	Ureteropelvic junction obstruction	7750	ZMYM2	OMIM:619522
HP:0000074	Ureteropelvic junction obstruction	2782	GNB1	OMIM:616973
HP:0000074	Ureteropelvic junction obstruction	10861	SLC26A1	OMIM:167030
HP:0000074	Ureteropelvic junction obstruction	8085	KMT2D	ORPHA:2322
HP:0000074	Ureteropelvic junction obstruction	8085	KMT2D	OMIM:147920
HP:0000074	Ureteropelvic junction obstruction	7403	KDM6A	ORPHA:2322
HP:0000074	Ureteropelvic junction obstruction	7403	KDM6A	OMIM:147920
HP:0000074	Ureteropelvic junction obstruction	4654	MYOD1	OMIM:618975
HP:0000074	Ureteropelvic junction obstruction	9096	TBX18	OMIM:143400
HP:0000075	Renal duplication	3655	ITGA6	ORPHA:79403
HP:0000075	Renal duplication	3691	ITGB4	ORPHA:79403
HP:0000075	Renal duplication	3691	ITGB4	ORPHA:158684
HP:0000075	Renal duplication	80781	COL18A1	OMIM:267750
HP:0000075	Renal duplication	9839	ZEB2	ORPHA:261537
HP:0000075	Renal duplication	9839	ZEB2	ORPHA:261552
HP:0000075	Renal duplication	4920	ROR2	OMIM:268310
HP:0000075	Renal duplication	2177	FANCD2	OMIM:227646
HP:0000075	Renal duplication	284058	KANSL1	ORPHA:363965
HP:0000075	Renal duplication	284058	KANSL1	ORPHA:363958
HP:0000075	Renal duplication	5339	PLEC	ORPHA:158684
HP:0000075	Renal duplication	6804	STX1A	ORPHA:904
HP:0000075	Renal duplication	7461	CLIP2	ORPHA:904
HP:0000075	Renal duplication	84277	DNAJC30	ORPHA:904
HP:0000075	Renal duplication	8468	FKBP6	ORPHA:904
HP:0000075	Renal duplication	5982	RFC2	ORPHA:904
HP:0000075	Renal duplication	2969	GTF2I	ORPHA:904
HP:0000075	Renal duplication	3984	LIMK1	ORPHA:904
HP:0000075	Renal duplication	9569	GTF2IRD1	ORPHA:904
HP:0000075	Renal duplication	155382	VPS37D	ORPHA:904
HP:0000075	Renal duplication	155368	METTL27	ORPHA:904
HP:0000075	Renal duplication	114049	BUD23	ORPHA:904
HP:0000075	Renal duplication	7458	EIF4H	ORPHA:904
HP:0000075	Renal duplication	84163	GTF2IRD2	ORPHA:904
HP:0000075	Renal duplication	9275	BCL7B	ORPHA:904
HP:0000075	Renal duplication	26608	TBL2	ORPHA:904
HP:0000075	Renal duplication	653361	NCF1	ORPHA:904
HP:0000075	Renal duplication	135886	TMEM270	ORPHA:904
HP:0000075	Renal duplication	51085	MLXIPL	ORPHA:904
HP:0000075	Renal duplication	9031	BAZ1B	ORPHA:904
HP:0000075	Renal duplication	2006	ELN	ORPHA:904
HP:0000075	Renal duplication	145173	B3GLCT	ORPHA:709
HP:0000075	Renal duplication	2303	FOXC2	ORPHA:33001
HP:0000075	Renal duplication	6231	RPS26	OMIM:613309
HP:0000075	Renal duplication	7474	WNT5A	OMIM:180700
HP:0000075	Renal duplication	1855	DVL1	OMIM:180700
HP:0000075	Renal duplication	10653	SPINT2	OMIM:270420
HP:0000075	Renal duplication	284252	KCTD1	ORPHA:2036
HP:0000075	Renal duplication	2719	GPC3	OMIM:312870
HP:0000075	Renal duplication	2239	GPC4	OMIM:312870
HP:0000075	Renal duplication	388662	SLC6A17	ORPHA:457212
HP:0000075	Renal duplication	2811	GP1BA	ORPHA:274
HP:0000075	Renal duplication	2812	GP1BB	ORPHA:274
HP:0000075	Renal duplication	2815	GP9	ORPHA:274
HP:0000077	Abnormality of the kidney	49855	SCAPER	ORPHA:110
HP:0000077	Abnormality of the kidney	51057	WDPCP	ORPHA:110
HP:0000077	Abnormality of the kidney	84984	CEP19	ORPHA:110
HP:0000077	Abnormality of the kidney	583	BBS2	ORPHA:110
HP:0000077	Abnormality of the kidney	55212	BBS7	ORPHA:110
HP:0000077	Abnormality of the kidney	129880	BBS5	ORPHA:110
HP:0000077	Abnormality of the kidney	80173	IFT74	ORPHA:110
HP:0000077	Abnormality of the kidney	7473	WNT3	ORPHA:3301
HP:0000077	Abnormality of the kidney	340419	RSPO2	ORPHA:3301
HP:0000077	Abnormality of the kidney	8405	SPOP	OMIM:618829
HP:0000077	Abnormality of the kidney	11041	B4GAT1	OMIM:615287
HP:0000077	Abnormality of the kidney	23522	KAT6B	ORPHA:85201
HP:0000077	Abnormality of the kidney	23522	KAT6B	OMIM:606170
HP:0000077	Abnormality of the kidney	25802	LMOD1	ORPHA:2241
HP:0000077	Abnormality of the kidney	72	ACTG2	ORPHA:2241
HP:0000077	Abnormality of the kidney	4638	MYLK	ORPHA:2241
HP:0000077	Abnormality of the kidney	151188	ARL6IP6	ORPHA:1556
HP:0000077	Abnormality of the kidney	139285	AMER1	OMIM:300373
HP:0000077	Abnormality of the kidney	3978	LIG1	OMIM:619774
HP:0000077	Abnormality of the kidney	64359	NXN	ORPHA:1507
HP:0000077	Abnormality of the kidney	80776	B9D2	ORPHA:564
HP:0000077	Abnormality of the kidney	79600	TCTN1	ORPHA:564
HP:0000077	Abnormality of the kidney	57096	RPGRIP1	ORPHA:564
HP:0000077	Abnormality of the kidney	7020	TFAP2A	ORPHA:1297
HP:0000077	Abnormality of the kidney	55670	PEX26	ORPHA:912
HP:0000077	Abnormality of the kidney	8799	PEX11B	ORPHA:912
HP:0000077	Abnormality of the kidney	9409	PEX16	ORPHA:912
HP:0000077	Abnormality of the kidney	5190	PEX6	ORPHA:912
HP:0000077	Abnormality of the kidney	5195	PEX14	ORPHA:912
HP:0000077	Abnormality of the kidney	5192	PEX10	ORPHA:912
HP:0000077	Abnormality of the kidney	2313	FLI1	ORPHA:2308
HP:0000077	Abnormality of the kidney	3655	ITGA6	ORPHA:79403
HP:0000077	Abnormality of the kidney	4920	ROR2	OMIM:268310
HP:0000077	Abnormality of the kidney	284058	KANSL1	ORPHA:363965
HP:0000077	Abnormality of the kidney	284058	KANSL1	ORPHA:363958
HP:0000077	Abnormality of the kidney	7474	WNT5A	OMIM:180700
HP:0000077	Abnormality of the kidney	1855	DVL1	OMIM:180700
HP:0000077	Abnormality of the kidney	10653	SPINT2	OMIM:270420
HP:0000077	Abnormality of the kidney	3767	KCNJ11	ORPHA:552
HP:0000077	Abnormality of the kidney	3767	KCNJ11	ORPHA:99886
HP:0000077	Abnormality of the kidney	8462	KLF11	ORPHA:552
HP:0000077	Abnormality of the kidney	2645	GCK	ORPHA:552
HP:0000077	Abnormality of the kidney	26060	APPL1	ORPHA:552
HP:0000077	Abnormality of the kidney	640	BLK	ORPHA:552
HP:0000077	Abnormality of the kidney	1056	CEL	ORPHA:552
HP:0000077	Abnormality of the kidney	4760	NEUROD1	ORPHA:552
HP:0000077	Abnormality of the kidney	3651	PDX1	ORPHA:552
HP:0000077	Abnormality of the kidney	6833	ABCC8	ORPHA:552
HP:0000077	Abnormality of the kidney	6833	ABCC8	ORPHA:99886
HP:0000077	Abnormality of the kidney	5078	PAX4	ORPHA:552
HP:0000077	Abnormality of the kidney	3172	HNF4A	ORPHA:552
HP:0000077	Abnormality of the kidney	6927	HNF1A	ORPHA:552
HP:0000077	Abnormality of the kidney	3630	INS	ORPHA:552
HP:0000077	Abnormality of the kidney	25970	SH2B1	ORPHA:261222
HP:0000077	Abnormality of the kidney	324	APC	ORPHA:261584
HP:0000077	Abnormality of the kidney	85358	SHANK3	OMIM:606232
HP:0000077	Abnormality of the kidney	9839	ZEB2	OMIM:235730
HP:0000077	Abnormality of the kidney	4758	NEU1	ORPHA:93399
HP:0000077	Abnormality of the kidney	4758	NEU1	ORPHA:93400
HP:0000077	Abnormality of the kidney	6888	TALDO1	ORPHA:101028
HP:0000077	Abnormality of the kidney	54968	TMEM70	ORPHA:1194
HP:0000077	Abnormality of the kidney	1723	DHODH	OMIM:263750
HP:0000077	Abnormality of the kidney	123016	TTC8	OMIM:613464
HP:0000077	Abnormality of the kidney	6812	STXBP1	ORPHA:495818
HP:0000077	Abnormality of the kidney	2033	EP300	ORPHA:353284
HP:0000077	Abnormality of the kidney	2132	EXT2	ORPHA:466926
HP:0000077	Abnormality of the kidney	346171	ZFP57	ORPHA:99886
HP:0000077	Abnormality of the kidney	57061	HYMAI	ORPHA:99886
HP:0000077	Abnormality of the kidney	5325	PLAGL1	ORPHA:99886
HP:0000077	Abnormality of the kidney	79140	CCDC28B	OMIM:209900
HP:0000077	Abnormality of the kidney	582	BBS1	OMIM:209900
HP:0000077	Abnormality of the kidney	5566	PRKACA	ORPHA:289
HP:0000077	Abnormality of the kidney	5567	PRKACB	ORPHA:289
HP:0000077	Abnormality of the kidney	2735	GLI1	ORPHA:289
HP:0000077	Abnormality of the kidney	2121	EVC	ORPHA:289
HP:0000077	Abnormality of the kidney	132884	EVC2	ORPHA:289
HP:0000077	Abnormality of the kidney	10483	SEC23B	ORPHA:201
HP:0000077	Abnormality of the kidney	5728	PTEN	ORPHA:201
HP:0000077	Abnormality of the kidney	207	AKT1	ORPHA:201
HP:0000077	Abnormality of the kidney	205717	USF3	ORPHA:201
HP:0000077	Abnormality of the kidney	100144748	KLLN	ORPHA:201
HP:0000077	Abnormality of the kidney	9401	RECQL4	OMIM:218600
HP:0000077	Abnormality of the kidney	10815	CPLX1	ORPHA:280
HP:0000077	Abnormality of the kidney	54872	PIGG	ORPHA:280
HP:0000077	Abnormality of the kidney	7469	NELFA	ORPHA:280
HP:0000077	Abnormality of the kidney	1487	CTBP1	ORPHA:280
HP:0000077	Abnormality of the kidney	3954	LETM1	ORPHA:280
HP:0000077	Abnormality of the kidney	7468	NSD2	ORPHA:280
HP:0000077	Abnormality of the kidney	92949	ADAMTSL1	ORPHA:521445
HP:0000077	Abnormality of the kidney	6638	SNRPN	ORPHA:177907
HP:0000077	Abnormality of the kidney	392255	GDF6	OMIM:118100
HP:0000077	Abnormality of the kidney	2321	FLT1	ORPHA:275555
HP:0000077	Abnormality of the kidney	219736	STOX1	ORPHA:275555
HP:0000077	Abnormality of the kidney	10699	CORIN	ORPHA:275555
HP:0000077	Abnormality of the kidney	5590	PRKCZ	ORPHA:1606
HP:0000077	Abnormality of the kidney	2563	GABRD	ORPHA:1606
HP:0000077	Abnormality of the kidney	23013	SPEN	ORPHA:1606
HP:0000077	Abnormality of the kidney	8510	MMP23B	ORPHA:1606
HP:0000077	Abnormality of the kidney	7798	LUZP1	ORPHA:1606
HP:0000077	Abnormality of the kidney	6497	SKI	ORPHA:1606
HP:0000077	Abnormality of the kidney	10630	PDPN	ORPHA:1606
HP:0000077	Abnormality of the kidney	3339	HSPG2	ORPHA:1606
HP:0000077	Abnormality of the kidney	10277	UBE4B	ORPHA:1606
HP:0000077	Abnormality of the kidney	8514	KCNAB2	ORPHA:1606
HP:0000077	Abnormality of the kidney	473	RERE	ORPHA:1606
HP:0000077	Abnormality of the kidney	63976	PRDM16	ORPHA:1606
HP:0000077	Abnormality of the kidney	54897	CASZ1	ORPHA:1606
HP:0000077	Abnormality of the kidney	58508	KMT2C	ORPHA:261652
HP:0000077	Abnormality of the kidney	27086	FOXP1	ORPHA:391372
HP:0000077	Abnormality of the kidney	6288	SAA1	ORPHA:85445
HP:0000077	Abnormality of the kidney	91949	COG7	ORPHA:79333
HP:0000077	Abnormality of the kidney	4286	MITF	ORPHA:895
HP:0000077	Abnormality of the kidney	7299	TYR	ORPHA:895
HP:0000077	Abnormality of the kidney	6591	SNAI2	ORPHA:895
HP:0000077	Abnormality of the kidney	1910	EDNRB	ORPHA:895
HP:0000077	Abnormality of the kidney	4254	KITLG	ORPHA:895
HP:0000077	Abnormality of the kidney	6663	SOX10	ORPHA:895
HP:0000077	Abnormality of the kidney	4854	NOTCH3	ORPHA:2591
HP:0000077	Abnormality of the kidney	5159	PDGFRB	ORPHA:2591
HP:0000077	Abnormality of the kidney	1387	CREBBP	ORPHA:353277
HP:0000077	Abnormality of the kidney	5836	PYGL	ORPHA:369
HP:0000077	Abnormality of the kidney	10736	SIX2	ORPHA:488437
HP:0000077	Abnormality of the kidney	585	BBS4	OMIM:615982
HP:0000077	Abnormality of the kidney	55315	SLC29A3	ORPHA:168569
HP:0000077	Abnormality of the kidney	22954	TRIM32	OMIM:615988
HP:0000077	Abnormality of the kidney	1801	DPH1	ORPHA:459061
HP:0000077	Abnormality of the kidney	8036	SHOC2	OMIM:607721
HP:0000077	Abnormality of the kidney	3376	IARS1	OMIM:617093
HP:0000077	Abnormality of the kidney	3376	IARS1	ORPHA:541423
HP:0000077	Abnormality of the kidney	23126	POGZ	OMIM:616364
HP:0000077	Abnormality of the kidney	23126	POGZ	ORPHA:468678
HP:0000077	Abnormality of the kidney	9487	PIGL	OMIM:280000
HP:0000077	Abnormality of the kidney	9894	TELO2	ORPHA:488642
HP:0000077	Abnormality of the kidney	8626	TP63	OMIM:604292
HP:0000077	Abnormality of the kidney	55593	OTUD5	OMIM:301056
HP:0000077	Abnormality of the kidney	80781	COL18A1	OMIM:267750
HP:0000077	Abnormality of the kidney	3909	LAMA3	ORPHA:79404
HP:0000077	Abnormality of the kidney	3918	LAMC2	ORPHA:79404
HP:0000077	Abnormality of the kidney	3914	LAMB3	ORPHA:79404
HP:0000077	Abnormality of the kidney	5700	PSMC1	OMIM:620071
HP:0000077	Abnormality of the kidney	5594	MAPK1	OMIM:619087
HP:0000077	Abnormality of the kidney	7148	TNXB	OMIM:615963
HP:0000077	Abnormality of the kidney	8085	KMT2D	ORPHA:2322
HP:0000077	Abnormality of the kidney	26191	PTPN22	ORPHA:397
HP:0000077	Abnormality of the kidney	26191	PTPN22	ORPHA:900
HP:0000077	Abnormality of the kidney	3106	HLA-B	ORPHA:397
HP:0000077	Abnormality of the kidney	3106	HLA-B	ORPHA:117
HP:0000077	Abnormality of the kidney	3106	HLA-B	ORPHA:36426
HP:0000077	Abnormality of the kidney	3123	HLA-DRB1	ORPHA:397
HP:0000077	Abnormality of the kidney	3123	HLA-DRB1	ORPHA:797
HP:0000077	Abnormality of the kidney	3123	HLA-DRB1	ORPHA:220393
HP:0000077	Abnormality of the kidney	8974	P4HA2	ORPHA:397
HP:0000077	Abnormality of the kidney	51726	DNAJB11	OMIM:618061
HP:0000077	Abnormality of the kidney	51726	DNAJB11	ORPHA:730
HP:0000077	Abnormality of the kidney	4594	MMUT	ORPHA:289916
HP:0000077	Abnormality of the kidney	4594	MMUT	ORPHA:79312
HP:0000077	Abnormality of the kidney	1497	CTNS	OMIM:219800
HP:0000077	Abnormality of the kidney	1497	CTNS	ORPHA:411634
HP:0000077	Abnormality of the kidney	355	FAS	ORPHA:3261
HP:0000077	Abnormality of the kidney	355	FAS	ORPHA:117
HP:0000077	Abnormality of the kidney	356	FASLG	ORPHA:3261
HP:0000077	Abnormality of the kidney	5580	PRKCD	ORPHA:3261
HP:0000077	Abnormality of the kidney	843	CASP10	ORPHA:3261
HP:0000077	Abnormality of the kidney	10125	RASGRP1	ORPHA:3261
HP:0000077	Abnormality of the kidney	9860	LRIG2	OMIM:615112
HP:0000077	Abnormality of the kidney	9860	LRIG2	ORPHA:2704
HP:0000077	Abnormality of the kidney	8518	ELP1	ORPHA:1764
HP:0000077	Abnormality of the kidney	4010	LMX1B	ORPHA:2613
HP:0000077	Abnormality of the kidney	4010	LMX1B	ORPHA:2614
HP:0000077	Abnormality of the kidney	4010	LMX1B	OMIM:161200
HP:0000077	Abnormality of the kidney	4010	LMX1B	OMIM:256020
HP:0000077	Abnormality of the kidney	5631	PRPS1	ORPHA:411543
HP:0000077	Abnormality of the kidney	5631	PRPS1	ORPHA:411536
HP:0000077	Abnormality of the kidney	5631	PRPS1	OMIM:300661
HP:0000077	Abnormality of the kidney	3209	HOXA13	OMIM:140000
HP:0000077	Abnormality of the kidney	84942	WDR73	OMIM:251300
HP:0000077	Abnormality of the kidney	84942	WDR73	ORPHA:83472
HP:0000077	Abnormality of the kidney	1131	CHRM3	ORPHA:2970
HP:0000077	Abnormality of the kidney	1184	CLCN5	OMIM:308990
HP:0000077	Abnormality of the kidney	1184	CLCN5	OMIM:300009
HP:0000077	Abnormality of the kidney	1184	CLCN5	OMIM:300554
HP:0000077	Abnormality of the kidney	1184	CLCN5	OMIM:310468
HP:0000077	Abnormality of the kidney	81839	VANGL1	ORPHA:3027
HP:0000077	Abnormality of the kidney	80199	FUZ	ORPHA:3027
HP:0000077	Abnormality of the kidney	2072	ERCC4	ORPHA:90321
HP:0000077	Abnormality of the kidney	2072	ERCC4	ORPHA:84
HP:0000077	Abnormality of the kidney	2072	ERCC4	OMIM:610965
HP:0000077	Abnormality of the kidney	4867	NPHP1	OMIM:609583
HP:0000077	Abnormality of the kidney	4867	NPHP1	OMIM:266900
HP:0000077	Abnormality of the kidney	4867	NPHP1	ORPHA:220497
HP:0000077	Abnormality of the kidney	64324	NSD1	ORPHA:821
HP:0000077	Abnormality of the kidney	29072	SETD2	ORPHA:821
HP:0000077	Abnormality of the kidney	10297	APC2	ORPHA:821
HP:0000077	Abnormality of the kidney	79848	CSPP1	ORPHA:397715
HP:0000077	Abnormality of the kidney	9786	KIAA0586	ORPHA:397715
HP:0000077	Abnormality of the kidney	11136	SLC7A9	OMIM:220100
HP:0000077	Abnormality of the kidney	6519	SLC3A1	OMIM:220100
HP:0000077	Abnormality of the kidney	23607	CD2AP	OMIM:607832
HP:0000077	Abnormality of the kidney	4312	MMP1	ORPHA:79408
HP:0000077	Abnormality of the kidney	1294	COL7A1	ORPHA:79408
HP:0000077	Abnormality of the kidney	79577	CDC73	ORPHA:143
HP:0000077	Abnormality of the kidney	79577	CDC73	ORPHA:99880
HP:0000077	Abnormality of the kidney	79577	CDC73	ORPHA:99879
HP:0000077	Abnormality of the kidney	4311	MME	ORPHA:69063
HP:0000077	Abnormality of the kidney	9380	GRHPR	OMIM:260000
HP:0000077	Abnormality of the kidney	9380	GRHPR	ORPHA:93599
HP:0000077	Abnormality of the kidney	23322	RPGRIP1L	ORPHA:220497
HP:0000077	Abnormality of the kidney	23322	RPGRIP1L	ORPHA:1454
HP:0000077	Abnormality of the kidney	23322	RPGRIP1L	OMIM:619113
HP:0000077	Abnormality of the kidney	65062	TMEM237	ORPHA:220497
HP:0000077	Abnormality of the kidney	65062	TMEM237	ORPHA:2318
HP:0000077	Abnormality of the kidney	79947	DHDDS	OMIM:613861
HP:0000077	Abnormality of the kidney	9640	ZNF592	ORPHA:83472
HP:0000077	Abnormality of the kidney	6523	SLC5A1	ORPHA:35710
HP:0000077	Abnormality of the kidney	9382	COG1	OMIM:611209
HP:0000077	Abnormality of the kidney	4868	NPHS1	OMIM:256300
HP:0000077	Abnormality of the kidney	55034	MOCOS	OMIM:603592
HP:0000077	Abnormality of the kidney	23193	GANAB	ORPHA:730
HP:0000077	Abnormality of the kidney	5310	PKD1	ORPHA:730
HP:0000077	Abnormality of the kidney	5310	PKD1	OMIM:173900
HP:0000077	Abnormality of the kidney	5311	PKD2	ORPHA:730
HP:0000077	Abnormality of the kidney	5311	PKD2	OMIM:613095
HP:0000077	Abnormality of the kidney	29880	ALG5	ORPHA:730
HP:0000077	Abnormality of the kidney	29880	ALG5	OMIM:620056
HP:0000077	Abnormality of the kidney	9742	IFT140	ORPHA:730
HP:0000077	Abnormality of the kidney	9742	IFT140	ORPHA:474
HP:0000077	Abnormality of the kidney	79796	ALG9	ORPHA:730
HP:0000077	Abnormality of the kidney	80114	BICC1	ORPHA:730
HP:0000077	Abnormality of the kidney	80114	BICC1	OMIM:601331
HP:0000077	Abnormality of the kidney	9071	CLDN10	OMIM:617671
HP:0000077	Abnormality of the kidney	81693	AMN	OMIM:618882
HP:0000077	Abnormality of the kidney	3043	HBB	OMIM:603903
HP:0000077	Abnormality of the kidney	8029	CUBN	OMIM:618884
HP:0000077	Abnormality of the kidney	2859	GPR35	ORPHA:171
HP:0000077	Abnormality of the kidney	10507	SEMA4D	ORPHA:171
HP:0000077	Abnormality of the kidney	4485	MST1	ORPHA:171
HP:0000077	Abnormality of the kidney	6925	TCF4	ORPHA:171
HP:0000077	Abnormality of the kidney	54757	FAM20A	OMIM:204690
HP:0000077	Abnormality of the kidney	54757	FAM20A	ORPHA:1031
HP:0000077	Abnormality of the kidney	353	APRT	OMIM:614723
HP:0000077	Abnormality of the kidney	353	APRT	ORPHA:976
HP:0000077	Abnormality of the kidney	412	STS	ORPHA:281090
HP:0000077	Abnormality of the kidney	7840	ALMS1	OMIM:203800
HP:0000077	Abnormality of the kidney	672	BRCA1	ORPHA:84
HP:0000077	Abnormality of the kidney	10459	MAD2L2	ORPHA:84
HP:0000077	Abnormality of the kidney	7516	XRCC2	ORPHA:84
HP:0000077	Abnormality of the kidney	29089	UBE2T	ORPHA:84
HP:0000077	Abnormality of the kidney	675	BRCA2	ORPHA:84
HP:0000077	Abnormality of the kidney	2177	FANCD2	ORPHA:84
HP:0000077	Abnormality of the kidney	2175	FANCA	ORPHA:84
HP:0000077	Abnormality of the kidney	2187	FANCB	ORPHA:84
HP:0000077	Abnormality of the kidney	2176	FANCC	ORPHA:84
HP:0000077	Abnormality of the kidney	2178	FANCE	ORPHA:84
HP:0000077	Abnormality of the kidney	2189	FANCG	ORPHA:84
HP:0000077	Abnormality of the kidney	5888	RAD51	ORPHA:84
HP:0000077	Abnormality of the kidney	5889	RAD51C	ORPHA:84
HP:0000077	Abnormality of the kidney	83990	BRIP1	ORPHA:84
HP:0000077	Abnormality of the kidney	57697	FANCM	ORPHA:84
HP:0000077	Abnormality of the kidney	79728	PALB2	ORPHA:84
HP:0000077	Abnormality of the kidney	84464	SLX4	ORPHA:84
HP:0000077	Abnormality of the kidney	1175	AP2S1	OMIM:600740
HP:0000077	Abnormality of the kidney	203286	ANKS6	OMIM:615382
HP:0000077	Abnormality of the kidney	5224	PGAM2	OMIM:261670
HP:0000077	Abnormality of the kidney	60495	HPSE2	ORPHA:2704
HP:0000077	Abnormality of the kidney	950	SCARB2	OMIM:254900
HP:0000077	Abnormality of the kidney	5230	PGK1	ORPHA:713
HP:0000077	Abnormality of the kidney	5230	PGK1	OMIM:300653
HP:0000077	Abnormality of the kidney	3265	HRAS	OMIM:218040
HP:0000077	Abnormality of the kidney	7490	WT1	OMIM:194072
HP:0000077	Abnormality of the kidney	7490	WT1	ORPHA:347
HP:0000077	Abnormality of the kidney	7490	WT1	OMIM:256370
HP:0000077	Abnormality of the kidney	5080	PAX6	OMIM:194072
HP:0000077	Abnormality of the kidney	54345	SOX18	OMIM:137940
HP:0000077	Abnormality of the kidney	26160	IFT172	ORPHA:474
HP:0000077	Abnormality of the kidney	51626	DYNC2LI1	ORPHA:474
HP:0000077	Abnormality of the kidney	79809	TTC21B	ORPHA:474
HP:0000077	Abnormality of the kidney	1187	CLCNKA	OMIM:613090
HP:0000077	Abnormality of the kidney	1188	CLCNKB	OMIM:613090
HP:0000077	Abnormality of the kidney	5314	PKHD1	OMIM:263200
HP:0000077	Abnormality of the kidney	5314	PKHD1	ORPHA:731
HP:0000077	Abnormality of the kidney	114548	NLRP3	OMIM:191900
HP:0000077	Abnormality of the kidney	10908	PNPLA6	ORPHA:2377
HP:0000077	Abnormality of the kidney	1282	COL4A1	ORPHA:73229
HP:0000077	Abnormality of the kidney	1282	COL4A1	OMIM:611773
HP:0000077	Abnormality of the kidney	718	C3	OMIM:613779
HP:0000077	Abnormality of the kidney	1493	CTLA4	ORPHA:900
HP:0000077	Abnormality of the kidney	3115	HLA-DPB1	ORPHA:900
HP:0000077	Abnormality of the kidney	5657	PRTN3	ORPHA:900
HP:0000077	Abnormality of the kidney	3113	HLA-DPA1	ORPHA:900
HP:0000077	Abnormality of the kidney	8659	ALDH4A1	ORPHA:79101
HP:0000077	Abnormality of the kidney	3675	ITGA3	OMIM:614748
HP:0000077	Abnormality of the kidney	4952	OCRL	OMIM:309000
HP:0000077	Abnormality of the kidney	4952	OCRL	ORPHA:534
HP:0000077	Abnormality of the kidney	4567	MT-TL1	ORPHA:225
HP:0000077	Abnormality of the kidney	4556	MT-TE	ORPHA:225
HP:0000077	Abnormality of the kidney	4566	MT-TK	ORPHA:225
HP:0000077	Abnormality of the kidney	2138	EYA1	ORPHA:107
HP:0000077	Abnormality of the kidney	147912	SIX5	ORPHA:107
HP:0000077	Abnormality of the kidney	147912	SIX5	OMIM:610896
HP:0000077	Abnormality of the kidney	6495	SIX1	ORPHA:107
HP:0000077	Abnormality of the kidney	229	ALDOB	ORPHA:469
HP:0000077	Abnormality of the kidney	56052	ALG1	ORPHA:79327
HP:0000077	Abnormality of the kidney	554	AVPR2	ORPHA:223
HP:0000077	Abnormality of the kidney	359	AQP2	ORPHA:223
HP:0000077	Abnormality of the kidney	3931	LCAT	OMIM:245900
HP:0000077	Abnormality of the kidney	3251	HPRT1	OMIM:300323
HP:0000077	Abnormality of the kidney	3251	HPRT1	ORPHA:79233
HP:0000077	Abnormality of the kidney	3251	HPRT1	ORPHA:510
HP:0000077	Abnormality of the kidney	57169	ZNFX1	OMIM:619644
HP:0000077	Abnormality of the kidney	92002	CCNQ	ORPHA:140952
HP:0000077	Abnormality of the kidney	23175	LPIN1	ORPHA:99845
HP:0000077	Abnormality of the kidney	4512	MT-CO1	ORPHA:99845
HP:0000077	Abnormality of the kidney	4514	MT-CO3	ORPHA:99845
HP:0000077	Abnormality of the kidney	1962	EHHADH	OMIM:615605
HP:0000077	Abnormality of the kidney	9968	MED12	OMIM:301068
HP:0000077	Abnormality of the kidney	7369	UMOD	OMIM:162000
HP:0000077	Abnormality of the kidney	79989	IFT56	OMIM:619534
HP:0000077	Abnormality of the kidney	2717	GLA	OMIM:301500
HP:0000077	Abnormality of the kidney	2717	GLA	ORPHA:324
HP:0000077	Abnormality of the kidney	2625	GATA3	ORPHA:2237
HP:0000077	Abnormality of the kidney	54916	TMEM260	OMIM:617478
HP:0000077	Abnormality of the kidney	3458	IFNG	ORPHA:805
HP:0000077	Abnormality of the kidney	7248	TSC1	ORPHA:805
HP:0000077	Abnormality of the kidney	7249	TSC2	ORPHA:805
HP:0000077	Abnormality of the kidney	2184	FAH	OMIM:276700
HP:0000077	Abnormality of the kidney	2542	SLC37A4	OMIM:232240
HP:0000077	Abnormality of the kidney	286204	CRB2	OMIM:219730
HP:0000077	Abnormality of the kidney	4615	MYD88	ORPHA:33226
HP:0000077	Abnormality of the kidney	1376	CPT2	OMIM:255110
HP:0000077	Abnormality of the kidney	1376	CPT2	OMIM:608836
HP:0000077	Abnormality of the kidney	1376	CPT2	ORPHA:228302
HP:0000077	Abnormality of the kidney	1376	CPT2	ORPHA:228308
HP:0000077	Abnormality of the kidney	27241	BBS9	OMIM:615986
HP:0000077	Abnormality of the kidney	79738	BBS10	OMIM:615987
HP:0000077	Abnormality of the kidney	2934	GSN	OMIM:105120
HP:0000077	Abnormality of the kidney	149233	IL23R	ORPHA:117
HP:0000077	Abnormality of the kidney	6775	STAT4	ORPHA:117
HP:0000077	Abnormality of the kidney	6775	STAT4	ORPHA:93552
HP:0000077	Abnormality of the kidney	3586	IL10	ORPHA:117
HP:0000077	Abnormality of the kidney	4210	MEFV	ORPHA:117
HP:0000077	Abnormality of the kidney	4210	MEFV	OMIM:134610
HP:0000077	Abnormality of the kidney	1230	CCR1	ORPHA:117
HP:0000077	Abnormality of the kidney	3592	IL12A	ORPHA:117
HP:0000077	Abnormality of the kidney	101928376	IL12A-AS1	ORPHA:117
HP:0000077	Abnormality of the kidney	7099	TLR4	ORPHA:117
HP:0000077	Abnormality of the kidney	3459	IFNGR1	ORPHA:117
HP:0000077	Abnormality of the kidney	720	C4A	ORPHA:117
HP:0000077	Abnormality of the kidney	337867	UBAC2	ORPHA:117
HP:0000077	Abnormality of the kidney	51752	ERAP1	ORPHA:117
HP:0000077	Abnormality of the kidney	8302	KLRC4	ORPHA:117
HP:0000077	Abnormality of the kidney	80184	CEP290	OMIM:615991
HP:0000077	Abnormality of the kidney	80184	CEP290	ORPHA:2318
HP:0000077	Abnormality of the kidney	92482	BBIP1	OMIM:615995
HP:0000077	Abnormality of the kidney	10806	SDCCAG8	OMIM:615993
HP:0000077	Abnormality of the kidney	51259	TMEM216	OMIM:608091
HP:0000077	Abnormality of the kidney	51259	TMEM216	ORPHA:2318
HP:0000077	Abnormality of the kidney	3426	CFI	OMIM:610984
HP:0000077	Abnormality of the kidney	6696	SPP1	ORPHA:93552
HP:0000077	Abnormality of the kidney	3654	IRAK1	ORPHA:93552
HP:0000077	Abnormality of the kidney	79813	EHMT1	ORPHA:96147
HP:0000077	Abnormality of the kidney	1776	DNASE1L3	ORPHA:36412
HP:0000077	Abnormality of the kidney	81570	CLPB	ORPHA:445038
HP:0000077	Abnormality of the kidney	23729	SHPK	ORPHA:440713
HP:0000077	Abnormality of the kidney	3939	LDHA	OMIM:612933
HP:0000077	Abnormality of the kidney	1287	COL4A5	OMIM:301050
HP:0000077	Abnormality of the kidney	23005	MAPKBP1	OMIM:617271
HP:0000077	Abnormality of the kidney	10320	IKZF1	ORPHA:36426
HP:0000077	Abnormality of the kidney	486	FXYD2	OMIM:154020
HP:0000077	Abnormality of the kidney	1108	CHD4	OMIM:617159
HP:0000077	Abnormality of the kidney	4221	MEN1	ORPHA:99879
HP:0000077	Abnormality of the kidney	9247	GCM2	ORPHA:99879
HP:0000077	Abnormality of the kidney	79583	TMEM231	ORPHA:2318
HP:0000077	Abnormality of the kidney	51524	TMEM138	ORPHA:2318
HP:0000077	Abnormality of the kidney	23090	ZNF423	ORPHA:2318
HP:0000077	Abnormality of the kidney	57545	CC2D2A	ORPHA:2318
HP:0000077	Abnormality of the kidney	57545	CC2D2A	ORPHA:1454
HP:0000077	Abnormality of the kidney	5277	PIGA	ORPHA:447
HP:0000077	Abnormality of the kidney	3291	HSD11B2	ORPHA:320
HP:0000077	Abnormality of the kidney	7809	BSND	OMIM:602522
HP:0000077	Abnormality of the kidney	254428	SLC41A1	OMIM:619468
HP:0000077	Abnormality of the kidney	9451	EIF2AK3	OMIM:226980
HP:0000077	Abnormality of the kidney	9451	EIF2AK3	ORPHA:1667
HP:0000077	Abnormality of the kidney	56623	INPP5E	ORPHA:1454
HP:0000077	Abnormality of the kidney	27031	NPHP3	OMIM:604387
HP:0000077	Abnormality of the kidney	27031	NPHP3	OMIM:208540
HP:0000077	Abnormality of the kidney	151516	ASPRV1	ORPHA:313
HP:0000077	Abnormality of the kidney	242	ALOX12B	ORPHA:313
HP:0000077	Abnormality of the kidney	126410	CYP4F22	ORPHA:313
HP:0000077	Abnormality of the kidney	6820	SULT2B1	ORPHA:313
HP:0000077	Abnormality of the kidney	26154	ABCA12	ORPHA:313
HP:0000077	Abnormality of the kidney	643418	LIPN	ORPHA:313
HP:0000077	Abnormality of the kidney	59344	ALOXE3	ORPHA:313
HP:0000077	Abnormality of the kidney	348938	NIPAL4	ORPHA:313
HP:0000077	Abnormality of the kidney	121214	SDR9C7	ORPHA:313
HP:0000077	Abnormality of the kidney	7051	TGM1	ORPHA:313
HP:0000077	Abnormality of the kidney	56244	BTNL2	ORPHA:797
HP:0000077	Abnormality of the kidney	23476	BRD4	ORPHA:199
HP:0000077	Abnormality of the kidney	9126	SMC3	ORPHA:199
HP:0000077	Abnormality of the kidney	8243	SMC1A	ORPHA:199
HP:0000077	Abnormality of the kidney	55869	HDAC8	ORPHA:199
HP:0000077	Abnormality of the kidney	4613	MYCN	ORPHA:391641
HP:0000077	Abnormality of the kidney	6338	SCNN1B	OMIM:177200
HP:0000077	Abnormality of the kidney	6338	SCNN1B	ORPHA:526
HP:0000077	Abnormality of the kidney	3975	LHX1	ORPHA:261265
HP:0000077	Abnormality of the kidney	4576	MT-TT	ORPHA:254857
HP:0000077	Abnormality of the kidney	1285	COL4A3	OMIM:203780
HP:0000077	Abnormality of the kidney	1285	COL4A3	OMIM:104200
HP:0000077	Abnormality of the kidney	1286	COL4A4	OMIM:203780
HP:0000077	Abnormality of the kidney	189	AGXT	OMIM:259900
HP:0000077	Abnormality of the kidney	3257	HPS1	OMIM:203300
HP:0000077	Abnormality of the kidney	54796	BNC2	ORPHA:93110
HP:0000077	Abnormality of the kidney	2335	FN1	ORPHA:84090
HP:0000077	Abnormality of the kidney	2335	FN1	OMIM:601894
HP:0000077	Abnormality of the kidney	23630	KCNE5	ORPHA:86818
HP:0000077	Abnormality of the kidney	2182	ACSL4	ORPHA:86818
HP:0000077	Abnormality of the kidney	9949	AMMECR1	ORPHA:86818
HP:0000077	Abnormality of the kidney	100147744	RNU7-1	OMIM:619487
HP:0000077	Abnormality of the kidney	2628	GATM	OMIM:134600
HP:0000077	Abnormality of the kidney	6569	SLC34A1	OMIM:613388
HP:0000077	Abnormality of the kidney	100506658	OCLN	OMIM:251290
HP:0000077	Abnormality of the kidney	50485	SMARCAL1	OMIM:242900
HP:0000077	Abnormality of the kidney	199221	DZIP1L	ORPHA:731
HP:0000077	Abnormality of the kidney	5264	PHYH	ORPHA:773
HP:0000077	Abnormality of the kidney	5191	PEX7	ORPHA:773
HP:0000077	Abnormality of the kidney	348	APOE	OMIM:611771
HP:0000077	Abnormality of the kidney	25974	MMACHC	ORPHA:79282
HP:0000077	Abnormality of the kidney	25974	MMACHC	OMIM:277400
HP:0000077	Abnormality of the kidney	6340	SCNN1G	ORPHA:526
HP:0000077	Abnormality of the kidney	6337	SCNN1A	ORPHA:526
HP:0000077	Abnormality of the kidney	8481	OFD1	ORPHA:2750
HP:0000077	Abnormality of the kidney	81494	CFHR5	OMIM:614809
HP:0000077	Abnormality of the kidney	3735	KARS1	OMIM:619147
HP:0000077	Abnormality of the kidney	9054	NFS1	OMIM:619386
HP:0000077	Abnormality of the kidney	1235	CCR6	ORPHA:220393
HP:0000077	Abnormality of the kidney	1490	CCN2	ORPHA:220393
HP:0000077	Abnormality of the kidney	3663	IRF5	ORPHA:220393
HP:0000077	Abnormality of the kidney	857	CAV1	ORPHA:220393
HP:0000077	Abnormality of the kidney	4627	MYH9	ORPHA:182050
HP:0000077	Abnormality of the kidney	9935	MAFB	OMIM:166300
HP:0000077	Abnormality of the kidney	3145	HMBS	ORPHA:79276
HP:0000077	Abnormality of the kidney	5052	PRDX1	OMIM:277400
HP:0000077	Abnormality of the kidney	2137	EXTL3	ORPHA:508533
HP:0000077	Abnormality of the kidney	6309	SC5D	ORPHA:46059
HP:0000077	Abnormality of the kidney	6309	SC5D	OMIM:607330
HP:0000077	Abnormality of the kidney	10054	UBA2	OMIM:619959
HP:0000077	Abnormality of the kidney	6650	CAPN15	OMIM:619318
HP:0000077	Abnormality of the kidney	10274	STAG1	ORPHA:502434
HP:0000077	Abnormality of the kidney	1736	DKC1	OMIM:305000
HP:0000077	Abnormality of the kidney	27125	AFF4	ORPHA:444077
HP:0000077	Abnormality of the kidney	27125	AFF4	OMIM:616368
HP:0000077	Abnormality of the kidney	29998	BICRA	OMIM:619325
HP:0000077	Abnormality of the kidney	6651	SON	OMIM:617140
HP:0000077	Abnormality of the kidney	6651	SON	ORPHA:500150
HP:0000077	Abnormality of the kidney	65993	MRPS34	OMIM:617664
HP:0000077	Abnormality of the kidney	83479	DDX59	OMIM:174300
HP:0000077	Abnormality of the kidney	9723	SEMA3E	ORPHA:138
HP:0000077	Abnormality of the kidney	7547	ZIC3	OMIM:306955
HP:0000077	Abnormality of the kidney	10584	COLEC10	OMIM:248340
HP:0000077	Abnormality of the kidney	113189	CHST14	ORPHA:2953
HP:0000077	Abnormality of the kidney	29940	DSE	ORPHA:2953
HP:0000077	Abnormality of the kidney	6597	SMARCA4	ORPHA:1465
HP:0000077	Abnormality of the kidney	6598	SMARCB1	ORPHA:1465
HP:0000077	Abnormality of the kidney	6659	SOX4	ORPHA:1465
HP:0000077	Abnormality of the kidney	8289	ARID1A	ORPHA:1465
HP:0000077	Abnormality of the kidney	5977	DPF2	ORPHA:1465
HP:0000077	Abnormality of the kidney	6601	SMARCC2	ORPHA:1465
HP:0000077	Abnormality of the kidney	6602	SMARCD1	ORPHA:1465
HP:0000077	Abnormality of the kidney	196528	ARID2	ORPHA:1465
HP:0000077	Abnormality of the kidney	6605	SMARCE1	ORPHA:1465
HP:0000077	Abnormality of the kidney	6664	SOX11	ORPHA:1465
HP:0000077	Abnormality of the kidney	1147	CHUK	OMIM:613630
HP:0000077	Abnormality of the kidney	157570	ESCO2	ORPHA:2319
HP:0000077	Abnormality of the kidney	157570	ESCO2	OMIM:268300
HP:0000077	Abnormality of the kidney	157570	ESCO2	OMIM:216100
HP:0000077	Abnormality of the kidney	64093	SMOC1	ORPHA:1106
HP:0000077	Abnormality of the kidney	7319	UBE2A	OMIM:300860
HP:0000077	Abnormality of the kidney	10524	KAT5	OMIM:619103
HP:0000077	Abnormality of the kidney	7403	KDM6A	OMIM:300867
HP:0000077	Abnormality of the kidney	6885	MAP3K7	OMIM:157800
HP:0000077	Abnormality of the kidney	8241	RBM10	OMIM:311900
HP:0000077	Abnormality of the kidney	8241	RBM10	ORPHA:2886
HP:0000077	Abnormality of the kidney	3192	HNRNPU	ORPHA:238769
HP:0000077	Abnormality of the kidney	64840	PORCN	OMIM:305600
HP:0000077	Abnormality of the kidney	64840	PORCN	ORPHA:2092
HP:0000077	Abnormality of the kidney	5447	POR	OMIM:201750
HP:0000077	Abnormality of the kidney	6135	RPL11	OMIM:612562
HP:0000077	Abnormality of the kidney	6135	RPL11	ORPHA:124
HP:0000077	Abnormality of the kidney	10283	CWC27	OMIM:250410
HP:0000077	Abnormality of the kidney	10283	CWC27	ORPHA:166035
HP:0000077	Abnormality of the kidney	3845	KRAS	OMIM:163200
HP:0000077	Abnormality of the kidney	4893	NRAS	OMIM:163200
HP:0000077	Abnormality of the kidney	2887	GRB10	ORPHA:96182
HP:0000077	Abnormality of the kidney	79228	THOC6	ORPHA:363444
HP:0000077	Abnormality of the kidney	79228	THOC6	OMIM:613680
HP:0000077	Abnormality of the kidney	78989	COLEC11	OMIM:265050
HP:0000077	Abnormality of the kidney	3187	HNRNPH1	OMIM:620083
HP:0000077	Abnormality of the kidney	6748	SSR4	ORPHA:370927
HP:0000077	Abnormality of the kidney	9319	TRIP13	OMIM:617598
HP:0000077	Abnormality of the kidney	9939	RBM8A	ORPHA:3320
HP:0000077	Abnormality of the kidney	9939	RBM8A	OMIM:274000
HP:0000077	Abnormality of the kidney	3110	MNX1	OMIM:176450
HP:0000077	Abnormality of the kidney	10225	CD96	ORPHA:1308
HP:0000077	Abnormality of the kidney	6138	RPL15	ORPHA:124
HP:0000077	Abnormality of the kidney	6229	RPS24	ORPHA:124
HP:0000077	Abnormality of the kidney	6125	RPL5	ORPHA:124
HP:0000077	Abnormality of the kidney	6204	RPS10	ORPHA:124
HP:0000077	Abnormality of the kidney	6224	RPS20	ORPHA:124
HP:0000077	Abnormality of the kidney	6165	RPL35A	ORPHA:124
HP:0000077	Abnormality of the kidney	2623	GATA1	ORPHA:124
HP:0000077	Abnormality of the kidney	6232	RPS27	ORPHA:124
HP:0000077	Abnormality of the kidney	11224	RPL35	ORPHA:124
HP:0000077	Abnormality of the kidney	6160	RPL31	ORPHA:124
HP:0000077	Abnormality of the kidney	6218	RPS17	ORPHA:124
HP:0000077	Abnormality of the kidney	6201	RPS7	ORPHA:124
HP:0000077	Abnormality of the kidney	6155	RPL27	ORPHA:124
HP:0000077	Abnormality of the kidney	6154	RPL26	ORPHA:124
HP:0000077	Abnormality of the kidney	6210	RPS15A	ORPHA:124
HP:0000077	Abnormality of the kidney	90121	TSR2	ORPHA:124
HP:0000077	Abnormality of the kidney	6141	RPL18	ORPHA:124
HP:0000077	Abnormality of the kidney	6235	RPS29	ORPHA:124
HP:0000077	Abnormality of the kidney	6234	RPS28	ORPHA:124
HP:0000077	Abnormality of the kidney	51816	ADA2	ORPHA:124
HP:0000077	Abnormality of the kidney	6736	SRY	ORPHA:1772
HP:0000077	Abnormality of the kidney	1642	DDB1	OMIM:619426
HP:0000077	Abnormality of the kidney	157657	CFAP418	OMIM:617406
HP:0000077	Abnormality of the kidney	26123	TCTN3	OMIM:614815
HP:0000077	Abnormality of the kidney	80000	GREB1L	OMIM:617805
HP:0000077	Abnormality of the kidney	168667	BMPER	OMIM:608022
HP:0000077	Abnormality of the kidney	1123	CHN1	ORPHA:233
HP:0000077	Abnormality of the kidney	6611	SMS	ORPHA:3063
HP:0000077	Abnormality of the kidney	6628	SNRPB	OMIM:117650
HP:0000077	Abnormality of the kidney	83700	JAM3	OMIM:613730
HP:0000077	Abnormality of the kidney	54361	WNT4	ORPHA:3109
HP:0000077	Abnormality of the kidney	9508	ADAMTS3	ORPHA:2136
HP:0000077	Abnormality of the kidney	147372	CCBE1	ORPHA:2136
HP:0000077	Abnormality of the kidney	147372	CCBE1	OMIM:235510
HP:0000077	Abnormality of the kidney	10992	SF3B2	OMIM:164210
HP:0000077	Abnormality of the kidney	5932	RBBP8	OMIM:606744
HP:0000077	Abnormality of the kidney	8239	USP9X	OMIM:300919
HP:0000077	Abnormality of the kidney	23384	SPECC1L	ORPHA:1519
HP:0000077	Abnormality of the kidney	6231	RPS26	OMIM:613309
HP:0000077	Abnormality of the kidney	1763	DNA2	OMIM:615807
HP:0000077	Abnormality of the kidney	3239	HOXD13	ORPHA:887
HP:0000077	Abnormality of the kidney	54101	RIPK4	OMIM:263650
HP:0000077	Abnormality of the kidney	90417	KNSTRN	OMIM:613328
HP:0000077	Abnormality of the kidney	5293	PIK3CD	OMIM:613328
HP:0000077	Abnormality of the kidney	11005	SPINK5	ORPHA:634
HP:0000077	Abnormality of the kidney	5290	PIK3CA	OMIM:612918
HP:0000077	Abnormality of the kidney	22827	PUF60	ORPHA:508498
HP:0000077	Abnormality of the kidney	22827	PUF60	OMIM:615583
HP:0000077	Abnormality of the kidney	5076	PAX2	ORPHA:97362
HP:0000077	Abnormality of the kidney	5076	PAX2	ORPHA:1475
HP:0000077	Abnormality of the kidney	5076	PAX2	OMIM:616002
HP:0000077	Abnormality of the kidney	5076	PAX2	OMIM:120330
HP:0000077	Abnormality of the kidney	5087	PBX1	ORPHA:97362
HP:0000077	Abnormality of the kidney	5087	PBX1	OMIM:617641
HP:0000077	Abnormality of the kidney	341640	FREM2	ORPHA:2052
HP:0000077	Abnormality of the kidney	341640	FREM2	OMIM:617666
HP:0000077	Abnormality of the kidney	80144	FRAS1	ORPHA:2052
HP:0000077	Abnormality of the kidney	80144	FRAS1	OMIM:219000
HP:0000077	Abnormality of the kidney	23426	GRIP1	ORPHA:2052
HP:0000077	Abnormality of the kidney	54892	NCAPG2	OMIM:618460
HP:0000077	Abnormality of the kidney	11020	IFT27	OMIM:615996
HP:0000077	Abnormality of the kidney	1161	ERCC8	ORPHA:90324
HP:0000077	Abnormality of the kidney	2074	ERCC6	ORPHA:90324
HP:0000077	Abnormality of the kidney	100151683	RNU4ATAC	OMIM:210710
HP:0000077	Abnormality of the kidney	4774	NFIA	OMIM:613735
HP:0000077	Abnormality of the kidney	57167	SALL4	OMIM:607323
HP:0000077	Abnormality of the kidney	4838	NODAL	OMIM:270100
HP:0000077	Abnormality of the kidney	64220	STRA6	OMIM:601186
HP:0000077	Abnormality of the kidney	64220	STRA6	ORPHA:2470
HP:0000077	Abnormality of the kidney	6299	SALL1	OMIM:107480
HP:0000077	Abnormality of the kidney	6299	SALL1	ORPHA:857
HP:0000077	Abnormality of the kidney	55112	DYNC2I1	ORPHA:93271
HP:0000077	Abnormality of the kidney	57560	IFT80	ORPHA:93271
HP:0000077	Abnormality of the kidney	57539	WDR35	ORPHA:93271
HP:0000077	Abnormality of the kidney	57539	WDR35	OMIM:614091
HP:0000077	Abnormality of the kidney	79659	DYNC2H1	ORPHA:93271
HP:0000077	Abnormality of the kidney	89891	DYNC2I2	ORPHA:93271
HP:0000077	Abnormality of the kidney	23498	HAAO	OMIM:617660
HP:0000077	Abnormality of the kidney	55159	RFWD3	OMIM:617784
HP:0000077	Abnormality of the kidney	8942	KYNU	OMIM:617661
HP:0000077	Abnormality of the kidney	8882	ZPR1	OMIM:619321
HP:0000077	Abnormality of the kidney	3313	HSPA9	OMIM:616854
HP:0000077	Abnormality of the kidney	55215	FANCI	OMIM:609053
HP:0000077	Abnormality of the kidney	23291	FBXW11	OMIM:618914
HP:0000077	Abnormality of the kidney	6092	ROBO2	OMIM:610878
HP:0000077	Abnormality of the kidney	6926	TBX3	ORPHA:3138
HP:0000077	Abnormality of the kidney	2188	FANCF	OMIM:603467
HP:0000077	Abnormality of the kidney	84987	COX14	OMIM:619053
HP:0000077	Abnormality of the kidney	57492	ARID1B	OMIM:135900
HP:0000077	Abnormality of the kidney	3899	AFF3	OMIM:619297
HP:0000077	Abnormality of the kidney	54496	PRMT7	OMIM:617157
HP:0000077	Abnormality of the kidney	54496	PRMT7	ORPHA:464288
HP:0000077	Abnormality of the kidney	6928	HNF1B	OMIM:137920
HP:0000077	Abnormality of the kidney	54567	DLL4	OMIM:616589
HP:0000077	Abnormality of the kidney	1312	COMT	ORPHA:567
HP:0000077	Abnormality of the kidney	221037	JMJD1C	ORPHA:567
HP:0000077	Abnormality of the kidney	2812	GP1BB	ORPHA:567
HP:0000077	Abnormality of the kidney	6239	RREB1	ORPHA:567
HP:0000077	Abnormality of the kidney	6899	TBX1	ORPHA:567
HP:0000077	Abnormality of the kidney	7290	HIRA	ORPHA:567
HP:0000077	Abnormality of the kidney	9632	SEC24C	ORPHA:567
HP:0000077	Abnormality of the kidney	7353	UFD1	ORPHA:567
HP:0000077	Abnormality of the kidney	421	ARVCF	ORPHA:567
HP:0000077	Abnormality of the kidney	91647	ATPAF2	OMIM:604273
HP:0000077	Abnormality of the kidney	25778	DSTYK	OMIM:610805
HP:0000077	Abnormality of the kidney	1717	DHCR7	OMIM:270400
HP:0000077	Abnormality of the kidney	652	BMP4	OMIM:607932
HP:0000077	Abnormality of the kidney	8091	HMGA2	ORPHA:94063
HP:0000077	Abnormality of the kidney	23592	LEMD3	ORPHA:94063
HP:0000077	Abnormality of the kidney	1822	ATN1	OMIM:618494
HP:0000077	Abnormality of the kidney	5147	PDE6D	OMIM:615665
HP:0000077	Abnormality of the kidney	55636	CHD7	OMIM:214800
HP:0000077	Abnormality of the kidney	79633	FAT4	OMIM:615546
HP:0000077	Abnormality of the kidney	79633	FAT4	ORPHA:314679
HP:0000077	Abnormality of the kidney	4582	MUC1	OMIM:174000
HP:0000077	Abnormality of the kidney	8642	DCHS1	OMIM:601390
HP:0000077	Abnormality of the kidney	8642	DCHS1	ORPHA:314679
HP:0000077	Abnormality of the kidney	9096	TBX18	OMIM:143400
HP:0000077	Abnormality of the kidney	2737	GLI3	OMIM:146510
HP:0000077	Abnormality of the kidney	5972	REN	OMIM:613092
HP:0000077	Abnormality of the kidney	8260	NAA10	OMIM:309800
HP:0000077	Abnormality of the kidney	54880	BCOR	OMIM:309800
HP:0000077	Abnormality of the kidney	145173	B3GLCT	OMIM:261540
HP:0000077	Abnormality of the kidney	6804	STX1A	ORPHA:904
HP:0000077	Abnormality of the kidney	7461	CLIP2	ORPHA:904
HP:0000077	Abnormality of the kidney	84277	DNAJC30	ORPHA:904
HP:0000077	Abnormality of the kidney	8468	FKBP6	ORPHA:904
HP:0000077	Abnormality of the kidney	5982	RFC2	ORPHA:904
HP:0000077	Abnormality of the kidney	2969	GTF2I	ORPHA:904
HP:0000077	Abnormality of the kidney	3984	LIMK1	ORPHA:904
HP:0000077	Abnormality of the kidney	9569	GTF2IRD1	ORPHA:904
HP:0000077	Abnormality of the kidney	155382	VPS37D	ORPHA:904
HP:0000077	Abnormality of the kidney	155368	METTL27	ORPHA:904
HP:0000077	Abnormality of the kidney	114049	BUD23	ORPHA:904
HP:0000077	Abnormality of the kidney	7458	EIF4H	ORPHA:904
HP:0000077	Abnormality of the kidney	84163	GTF2IRD2	ORPHA:904
HP:0000077	Abnormality of the kidney	9275	BCL7B	ORPHA:904
HP:0000077	Abnormality of the kidney	26608	TBL2	ORPHA:904
HP:0000077	Abnormality of the kidney	653361	NCF1	ORPHA:904
HP:0000077	Abnormality of the kidney	135886	TMEM270	ORPHA:904
HP:0000077	Abnormality of the kidney	51085	MLXIPL	ORPHA:904
HP:0000077	Abnormality of the kidney	51085	MLXIPL	OMIM:194050
HP:0000077	Abnormality of the kidney	9031	BAZ1B	ORPHA:904
HP:0000077	Abnormality of the kidney	2006	ELN	ORPHA:904
HP:0000077	Abnormality of the kidney	2006	ELN	OMIM:194050
HP:0000077	Abnormality of the kidney	8364	H4C3	OMIM:619758
HP:0000077	Abnormality of the kidney	55165	CEP55	OMIM:236500
HP:0000077	Abnormality of the kidney	10907	TXNL4A	OMIM:608572
HP:0000077	Abnormality of the kidney	8204	NRIP1	OMIM:618270
HP:0000077	Abnormality of the kidney	284252	KCTD1	OMIM:181270
HP:0000077	Abnormality of the kidney	374879	ZNF699	OMIM:619488
HP:0000077	Abnormality of the kidney	9928	KIF14	OMIM:616258
HP:0000077	Abnormality of the kidney	9928	KIF14	OMIM:617914
HP:0000077	Abnormality of the kidney	51473	DCDC2	ORPHA:84081
HP:0000077	Abnormality of the kidney	91147	TMEM67	ORPHA:84081
HP:0000077	Abnormality of the kidney	182	JAG1	OMIM:118450
HP:0000077	Abnormality of the kidney	2263	FGFR2	ORPHA:2363
HP:0000077	Abnormality of the kidney	2261	FGFR3	ORPHA:2363
HP:0000077	Abnormality of the kidney	2255	FGF10	ORPHA:2363
HP:0000077	Abnormality of the kidney	51339	DACT1	ORPHA:857
HP:0000077	Abnormality of the kidney	84919	PPP1R15B	OMIM:616817
HP:0000077	Abnormality of the kidney	63895	PIEZO2	OMIM:248700
HP:0000077	Abnormality of the kidney	10084	PQBP1	OMIM:309500
HP:0000077	Abnormality of the kidney	5915	RARB	ORPHA:2470
HP:0000077	Abnormality of the kidney	55120	FANCL	OMIM:614083
HP:0000077	Abnormality of the kidney	153241	CEP120	OMIM:616300
HP:0000077	Abnormality of the kidney	7518	XRCC4	OMIM:616541
HP:0000077	Abnormality of the kidney	4193	MDM2	OMIM:618681
HP:0000077	Abnormality of the kidney	10463	SLC30A9	OMIM:617595
HP:0000077	Abnormality of the kidney	51360	MBTPS2	ORPHA:85284
HP:0000077	Abnormality of the kidney	546	ATRX	OMIM:309580
HP:0000077	Abnormality of the kidney	5885	RAD21	OMIM:611376
HP:0000077	Abnormality of the kidney	25836	NIPBL	OMIM:122470
HP:0000077	Abnormality of the kidney	50628	GEMIN4	OMIM:617913
HP:0000077	Abnormality of the kidney	55005	RMND1	OMIM:614922
HP:0000077	Abnormality of the kidney	5557	PRIM1	OMIM:620005
HP:0000077	Abnormality of the kidney	4853	NOTCH2	OMIM:610205
HP:0000077	Abnormality of the kidney	84100	ARL6	OMIM:600151
HP:0000077	Abnormality of the kidney	6223	RPS19	OMIM:105650
HP:0000077	Abnormality of the kidney	8295	TRRAP	OMIM:618454
HP:0000077	Abnormality of the kidney	9652	SKIC3	ORPHA:84064
HP:0000077	Abnormality of the kidney	6499	SKIC2	ORPHA:84064
HP:0000077	Abnormality of the kidney	57728	WDR19	OMIM:614376
HP:0000077	Abnormality of the kidney	57728	WDR19	OMIM:614377
HP:0000077	Abnormality of the kidney	4654	MYOD1	OMIM:618975
HP:0000077	Abnormality of the kidney	27152	INTU	OMIM:617926
HP:0000077	Abnormality of the kidney	3762	KCNJ5	ORPHA:37553
HP:0000077	Abnormality of the kidney	3759	KCNJ2	ORPHA:37553
HP:0000077	Abnormality of the kidney	4038	LRP4	OMIM:212780
HP:0000077	Abnormality of the kidney	261734	NPHP4	OMIM:606996
HP:0000077	Abnormality of the kidney	261734	NPHP4	OMIM:606966
HP:0000077	Abnormality of the kidney	261734	NPHP4	ORPHA:3156
HP:0000077	Abnormality of the kidney	95681	CEP41	OMIM:614464
HP:0000077	Abnormality of the kidney	63929	XPNPEP3	OMIM:613159
HP:0000077	Abnormality of the kidney	22897	CEP164	OMIM:614845
HP:0000077	Abnormality of the kidney	22897	CEP164	ORPHA:3156
HP:0000077	Abnormality of the kidney	84662	GLIS2	OMIM:611498
HP:0000077	Abnormality of the kidney	26146	TRAF3IP1	OMIM:616629
HP:0000077	Abnormality of the kidney	26146	TRAF3IP1	ORPHA:3156
HP:0000077	Abnormality of the kidney	54806	AHI1	OMIM:608629
HP:0000077	Abnormality of the kidney	9321	TRIP11	OMIM:184260
HP:0000077	Abnormality of the kidney	112752	IFT43	OMIM:614099
HP:0000077	Abnormality of the kidney	51134	CEP83	OMIM:615862
HP:0000077	Abnormality of the kidney	284086	NEK8	OMIM:613824
HP:0000077	Abnormality of the kidney	9657	IQCB1	ORPHA:3156
HP:0000077	Abnormality of the kidney	9657	IQCB1	OMIM:609254
HP:0000077	Abnormality of the kidney	27130	INVS	ORPHA:3156
HP:0000077	Abnormality of the kidney	27130	INVS	OMIM:602088
HP:0000077	Abnormality of the kidney	22909	FAN1	OMIM:614817
HP:0000077	Abnormality of the kidney	56945	MRPS22	OMIM:611719
HP:0000077	Abnormality of the kidney	5373	PMM2	ORPHA:79318
HP:0000077	Abnormality of the kidney	4536	MT-ND2	ORPHA:255210
HP:0000077	Abnormality of the kidney	4537	MT-ND3	ORPHA:255210
HP:0000077	Abnormality of the kidney	4577	MT-TV	ORPHA:255210
HP:0000077	Abnormality of the kidney	4508	MT-ATP6	ORPHA:255210
HP:0000077	Abnormality of the kidney	56606	SLC2A9	ORPHA:94088
HP:0000077	Abnormality of the kidney	116085	SLC22A12	ORPHA:94088
HP:0000077	Abnormality of the kidney	25915	NDUFAF3	ORPHA:70474
HP:0000077	Abnormality of the kidney	4714	NDUFB8	ORPHA:70474
HP:0000077	Abnormality of the kidney	4720	NDUFS2	ORPHA:70474
HP:0000077	Abnormality of the kidney	9997	SCO2	ORPHA:70474
HP:0000077	Abnormality of the kidney	6834	SURF1	ORPHA:70474
HP:0000077	Abnormality of the kidney	26276	VPS33B	OMIM:208085
HP:0000077	Abnormality of the kidney	11277	TREX1	ORPHA:247691
HP:0000077	Abnormality of the kidney	9722	NOS1AP	OMIM:619155
HP:0000077	Abnormality of the kidney	5339	PLEC	ORPHA:158684
HP:0000077	Abnormality of the kidney	3691	ITGB4	ORPHA:158684
HP:0000077	Abnormality of the kidney	7428	VHL	ORPHA:29072
HP:0000077	Abnormality of the kidney	7428	VHL	ORPHA:276621
HP:0000077	Abnormality of the kidney	1743	DLST	ORPHA:29072
HP:0000077	Abnormality of the kidney	4191	MDH2	ORPHA:29072
HP:0000077	Abnormality of the kidney	5979	RET	ORPHA:29072
HP:0000077	Abnormality of the kidney	5979	RET	ORPHA:276621
HP:0000077	Abnormality of the kidney	6389	SDHA	ORPHA:29072
HP:0000077	Abnormality of the kidney	23095	KIF1B	ORPHA:29072
HP:0000077	Abnormality of the kidney	2271	FH	ORPHA:29072
HP:0000077	Abnormality of the kidney	8402	SLC25A11	ORPHA:29072
HP:0000077	Abnormality of the kidney	54949	SDHAF2	ORPHA:29072
HP:0000077	Abnormality of the kidney	55654	TMEM127	ORPHA:29072
HP:0000077	Abnormality of the kidney	4763	NF1	ORPHA:29072
HP:0000077	Abnormality of the kidney	6391	SDHC	ORPHA:29072
HP:0000077	Abnormality of the kidney	6392	SDHD	ORPHA:29072
HP:0000077	Abnormality of the kidney	6392	SDHD	ORPHA:276621
HP:0000077	Abnormality of the kidney	6390	SDHB	ORPHA:29072
HP:0000077	Abnormality of the kidney	6390	SDHB	ORPHA:276621
HP:0000077	Abnormality of the kidney	4149	MAX	ORPHA:29072
HP:0000077	Abnormality of the kidney	1788	DNMT3A	ORPHA:276621
HP:0000077	Abnormality of the kidney	2034	EPAS1	ORPHA:276621
HP:0000077	Abnormality of the kidney	55644	OSGEP	OMIM:617729
HP:0000077	Abnormality of the kidney	7225	TRPC6	OMIM:603965
HP:0000077	Abnormality of the kidney	7225	TRPC6	ORPHA:656
HP:0000077	Abnormality of the kidney	4558	MT-TF	ORPHA:550
HP:0000077	Abnormality of the kidney	4572	MT-TQ	ORPHA:550
HP:0000077	Abnormality of the kidney	4513	MT-CO2	ORPHA:550
HP:0000077	Abnormality of the kidney	4578	MT-TW	ORPHA:550
HP:0000077	Abnormality of the kidney	4540	MT-ND5	ORPHA:550
HP:0000077	Abnormality of the kidney	4541	MT-ND6	ORPHA:550
HP:0000077	Abnormality of the kidney	4535	MT-ND1	ORPHA:550
HP:0000077	Abnormality of the kidney	4538	MT-ND4	ORPHA:550
HP:0000077	Abnormality of the kidney	4574	MT-TS1	ORPHA:550
HP:0000077	Abnormality of the kidney	4575	MT-TS2	ORPHA:550
HP:0000077	Abnormality of the kidney	4564	MT-TH	ORPHA:550
HP:0000077	Abnormality of the kidney	112858	TP53RK	OMIM:617730
HP:0000077	Abnormality of the kidney	8879	SGPL1	OMIM:617575
HP:0000077	Abnormality of the kidney	8270	LAGE3	OMIM:301006
HP:0000077	Abnormality of the kidney	29927	SEC61A1	OMIM:617056
HP:0000077	Abnormality of the kidney	51002	TPRKB	OMIM:617731
HP:0000077	Abnormality of the kidney	10785	WDR4	OMIM:618347
HP:0000077	Abnormality of the kidney	57122	NUP107	OMIM:618348
HP:0000077	Abnormality of the kidney	57122	NUP107	OMIM:616730
HP:0000077	Abnormality of the kidney	57122	NUP107	ORPHA:656
HP:0000077	Abnormality of the kidney	55746	NUP133	OMIM:618349
HP:0000077	Abnormality of the kidney	55746	NUP133	ORPHA:656
HP:0000077	Abnormality of the kidney	55746	NUP133	OMIM:618177
HP:0000077	Abnormality of the kidney	81	ACTN4	OMIM:603278
HP:0000077	Abnormality of the kidney	81	ACTN4	ORPHA:656
HP:0000077	Abnormality of the kidney	55243	KIRREL1	OMIM:619201
HP:0000077	Abnormality of the kidney	10651	MTX2	OMIM:619127
HP:0000077	Abnormality of the kidney	23165	NUP205	OMIM:616893
HP:0000077	Abnormality of the kidney	23165	NUP205	ORPHA:656
HP:0000077	Abnormality of the kidney	9688	NUP93	OMIM:616892
HP:0000077	Abnormality of the kidney	9688	NUP93	ORPHA:656
HP:0000077	Abnormality of the kidney	5800	PTPRO	OMIM:614196
HP:0000077	Abnormality of the kidney	5800	PTPRO	ORPHA:656
HP:0000077	Abnormality of the kidney	65082	VPS33A	OMIM:617303
HP:0000077	Abnormality of the kidney	84520	GON7	OMIM:619603
HP:0000077	Abnormality of the kidney	4643	MYO1E	ORPHA:656
HP:0000077	Abnormality of the kidney	4643	MYO1E	OMIM:614131
HP:0000077	Abnormality of the kidney	64423	INF2	ORPHA:656
HP:0000077	Abnormality of the kidney	64423	INF2	OMIM:613237
HP:0000077	Abnormality of the kidney	64423	INF2	OMIM:614455
HP:0000077	Abnormality of the kidney	26130	GAPVD1	ORPHA:656
HP:0000077	Abnormality of the kidney	51479	ANKFY1	ORPHA:656
HP:0000077	Abnormality of the kidney	54443	ANLN	ORPHA:656
HP:0000077	Abnormality of the kidney	54443	ANLN	OMIM:616032
HP:0000077	Abnormality of the kidney	2013	EMP2	ORPHA:656
HP:0000077	Abnormality of the kidney	79023	NUP37	ORPHA:656
HP:0000077	Abnormality of the kidney	51196	PLCE1	ORPHA:656
HP:0000077	Abnormality of the kidney	51196	PLCE1	OMIM:610725
HP:0000077	Abnormality of the kidney	79902	NUP85	ORPHA:656
HP:0000077	Abnormality of the kidney	79902	NUP85	OMIM:618176
HP:0000077	Abnormality of the kidney	396	ARHGDIA	ORPHA:656
HP:0000077	Abnormality of the kidney	79934	COQ8B	ORPHA:656
HP:0000077	Abnormality of the kidney	79934	COQ8B	OMIM:615573
HP:0000077	Abnormality of the kidney	23279	NUP160	ORPHA:656
HP:0000077	Abnormality of the kidney	23279	NUP160	OMIM:618178
HP:0000077	Abnormality of the kidney	9863	MAGI2	ORPHA:656
HP:0000077	Abnormality of the kidney	8542	APOL1	ORPHA:656
HP:0000077	Abnormality of the kidney	8542	APOL1	OMIM:612551
HP:0000077	Abnormality of the kidney	54885	TBC1D8B	ORPHA:656
HP:0000077	Abnormality of the kidney	54885	TBC1D8B	OMIM:301028
HP:0000077	Abnormality of the kidney	7827	NPHS2	ORPHA:656
HP:0000077	Abnormality of the kidney	7827	NPHS2	OMIM:600995
HP:0000077	Abnormality of the kidney	83478	ARHGAP24	ORPHA:656
HP:0000077	Abnormality of the kidney	23500	DAAM2	ORPHA:656
HP:0000077	Abnormality of the kidney	23500	DAAM2	OMIM:619263
HP:0000077	Abnormality of the kidney	27235	COQ2	OMIM:607426
HP:0000077	Abnormality of the kidney	2538	G6PC1	OMIM:232200
HP:0000077	Abnormality of the kidney	3911	LAMA5	OMIM:620049
HP:0000077	Abnormality of the kidney	51004	COQ6	OMIM:614650
HP:0000077	Abnormality of the kidney	79731	NARS2	OMIM:616239
HP:0000077	Abnormality of the kidney	6559	SLC12A3	ORPHA:358
HP:0000077	Abnormality of the kidney	9056	SLC7A7	ORPHA:470
HP:0000077	Abnormality of the kidney	8651	SOCS1	OMIM:619375
HP:0000077	Abnormality of the kidney	975	CD81	OMIM:613496
HP:0000077	Abnormality of the kidney	50943	FOXP3	OMIM:304790
HP:0000077	Abnormality of the kidney	81603	TRIM8	OMIM:619428
HP:0000077	Abnormality of the kidney	9342	SNAP29	ORPHA:66631
HP:0000077	Abnormality of the kidney	5921	RASA1	ORPHA:90307
HP:0000077	Abnormality of the kidney	708	C1QBP	OMIM:617713
HP:0000077	Abnormality of the kidney	79415	CYBC1	OMIM:618935
HP:0000077	Abnormality of the kidney	4069	LYZ	OMIM:105200
HP:0000077	Abnormality of the kidney	2243	FGA	OMIM:105200
HP:0000077	Abnormality of the kidney	335	APOA1	OMIM:105200
HP:0000077	Abnormality of the kidney	5265	SERPINA1	ORPHA:60
HP:0000077	Abnormality of the kidney	6023	RMRP	ORPHA:39041
HP:0000077	Abnormality of the kidney	5896	RAG1	ORPHA:39041
HP:0000077	Abnormality of the kidney	5897	RAG2	ORPHA:39041
HP:0000077	Abnormality of the kidney	64421	DCLRE1C	ORPHA:39041
HP:0000077	Abnormality of the kidney	3575	IL7R	ORPHA:39041
HP:0000077	Abnormality of the kidney	3561	IL2RG	ORPHA:39041
HP:0000077	Abnormality of the kidney	64135	IFIH1	OMIM:615846
HP:0000077	Abnormality of the kidney	4141	MARS1	ORPHA:401835
HP:0000077	Abnormality of the kidney	26503	SLC17A5	OMIM:269920
HP:0000077	Abnormality of the kidney	10916	MAGED2	OMIM:300971
HP:0000077	Abnormality of the kidney	9365	KL	OMIM:617994
HP:0000077	Abnormality of the kidney	3710	ITPR3	OMIM:222100
HP:0000077	Abnormality of the kidney	3569	IL6	OMIM:222100
HP:0000077	Abnormality of the kidney	7484	WNT9B	ORPHA:1848
HP:0000077	Abnormality of the kidney	28514	DLL1	ORPHA:280200
HP:0000077	Abnormality of the kidney	2253	FGF8	ORPHA:280200
HP:0000077	Abnormality of the kidney	2253	FGF8	ORPHA:478
HP:0000077	Abnormality of the kidney	6496	SIX3	ORPHA:280200
HP:0000077	Abnormality of the kidney	7050	TGIF1	ORPHA:280200
HP:0000077	Abnormality of the kidney	51684	SUFU	ORPHA:280200
HP:0000077	Abnormality of the kidney	7546	ZIC2	ORPHA:280200
HP:0000077	Abnormality of the kidney	2619	GAS1	ORPHA:280200
HP:0000077	Abnormality of the kidney	84976	DISP1	ORPHA:280200
HP:0000077	Abnormality of the kidney	2736	GLI2	ORPHA:280200
HP:0000077	Abnormality of the kidney	8928	FOXH1	ORPHA:280200
HP:0000077	Abnormality of the kidney	50937	CDON	ORPHA:280200
HP:0000077	Abnormality of the kidney	3640	INSL3	OMIM:219050
HP:0000077	Abnormality of the kidney	10371	SEMA3A	ORPHA:478
HP:0000077	Abnormality of the kidney	81848	SPRY4	ORPHA:478
HP:0000077	Abnormality of the kidney	23767	FLRT3	ORPHA:478
HP:0000077	Abnormality of the kidney	79625	NDNF	ORPHA:478
HP:0000077	Abnormality of the kidney	389549	FEZF1	ORPHA:478
HP:0000077	Abnormality of the kidney	54756	IL17RD	ORPHA:478
HP:0000077	Abnormality of the kidney	285025	CCDC141	ORPHA:478
HP:0000077	Abnormality of the kidney	60675	PROK2	ORPHA:478
HP:0000077	Abnormality of the kidney	1848	DUSP6	ORPHA:478
HP:0000077	Abnormality of the kidney	6870	TACR3	ORPHA:478
HP:0000077	Abnormality of the kidney	55717	WDR11	ORPHA:478
HP:0000077	Abnormality of the kidney	9394	HS6ST1	ORPHA:478
HP:0000077	Abnormality of the kidney	8820	HESX1	ORPHA:478
HP:0000077	Abnormality of the kidney	8822	FGF17	ORPHA:478
HP:0000077	Abnormality of the kidney	26227	PHGDH	OMIM:256520
HP:0000077	Abnormality of the kidney	51422	PRKAG2	OMIM:261740
HP:0000077	Abnormality of the kidney	23394	ADNP	OMIM:615873
HP:0000077	Abnormality of the kidney	11311	VPS45	OMIM:615285
HP:0000077	Abnormality of the kidney	79158	GNPTAB	OMIM:252500
HP:0000077	Abnormality of the kidney	745	MYRF	OMIM:618280
HP:0000077	Abnormality of the kidney	6718	AKR1D1	ORPHA:79303
HP:0000077	Abnormality of the kidney	7086	TKT	ORPHA:488618
HP:0000077	Abnormality of the kidney	4519	MT-CYB	ORPHA:137675
HP:0000077	Abnormality of the kidney	4437	MSH3	OMIM:617100
HP:0000077	Abnormality of the kidney	4437	MSH3	ORPHA:480536
HP:0000077	Abnormality of the kidney	79053	ALG8	OMIM:617874
HP:0000077	Abnormality of the kidney	3295	HSD17B4	OMIM:261515
HP:0000077	Abnormality of the kidney	83483	PLVAP	OMIM:618183
HP:0000077	Abnormality of the kidney	6608	SMO	OMIM:241800
HP:0000077	Abnormality of the kidney	7707	ZNF148	OMIM:617260
HP:0000077	Abnormality of the kidney	29954	POMT2	OMIM:236670
HP:0000077	Abnormality of the kidney	9215	LARGE1	OMIM:236670
HP:0000077	Abnormality of the kidney	79147	FKRP	OMIM:236670
HP:0000077	Abnormality of the kidney	10585	POMT1	OMIM:236670
HP:0000077	Abnormality of the kidney	2218	FKTN	OMIM:236670
HP:0000077	Abnormality of the kidney	26173	INTS1	OMIM:618571
HP:0000077	Abnormality of the kidney	6792	CDKL5	ORPHA:1934
HP:0000077	Abnormality of the kidney	3736	KCNA1	ORPHA:1934
HP:0000077	Abnormality of the kidney	2775	GNAO1	ORPHA:1934
HP:0000077	Abnormality of the kidney	2902	GRIN1	ORPHA:1934
HP:0000077	Abnormality of the kidney	79751	SLC25A22	ORPHA:1934
HP:0000077	Abnormality of the kidney	150094	SIK1	ORPHA:1934
HP:0000077	Abnormality of the kidney	8573	CASK	ORPHA:1934
HP:0000077	Abnormality of the kidney	23312	DMXL2	ORPHA:1934
HP:0000077	Abnormality of the kidney	2917	GRM7	ORPHA:1934
HP:0000077	Abnormality of the kidney	11284	PNKP	ORPHA:1934
HP:0000077	Abnormality of the kidney	6326	SCN2A	ORPHA:1934
HP:0000077	Abnormality of the kidney	51227	PIGP	ORPHA:1934
HP:0000077	Abnormality of the kidney	6324	SCN1B	ORPHA:1934
HP:0000077	Abnormality of the kidney	4761	NEUROD2	ORPHA:1934
HP:0000077	Abnormality of the kidney	493856	CISD2	ORPHA:3463
HP:0000077	Abnormality of the kidney	3766	KCNJ10	ORPHA:705
HP:0000077	Abnormality of the kidney	2299	FOXI1	ORPHA:705
HP:0000077	Abnormality of the kidney	5172	SLC26A4	ORPHA:705
HP:0000077	Abnormality of the kidney	5625	PRODH	ORPHA:419
HP:0000077	Abnormality of the kidney	3090	HIC1	ORPHA:531
HP:0000077	Abnormality of the kidney	5048	PAFAH1B1	ORPHA:531
HP:0000077	Abnormality of the kidney	7531	YWHAE	ORPHA:531
HP:0000077	Abnormality of the kidney	1371	CPOX	ORPHA:79273
HP:0000077	Abnormality of the kidney	4750	NEK1	OMIM:263520
HP:0000077	Abnormality of the kidney	79770	TXNDC15	OMIM:619879
HP:0000077	Abnormality of the kidney	5830	PEX5	OMIM:214110
HP:0000077	Abnormality of the kidney	219854	TMEM218	OMIM:619562
HP:0000077	Abnormality of the kidney	169792	GLIS3	OMIM:610199
HP:0000077	Abnormality of the kidney	84314	TMEM107	OMIM:617562
HP:0000077	Abnormality of the kidney	5193	PEX12	OMIM:614859
HP:0000077	Abnormality of the kidney	4351	MPI	OMIM:602579
HP:0000077	Abnormality of the kidney	54539	NDUFB11	ORPHA:2609
HP:0000077	Abnormality of the kidney	51103	NDUFAF1	ORPHA:2609
HP:0000077	Abnormality of the kidney	91942	NDUFAF2	ORPHA:2609
HP:0000077	Abnormality of the kidney	51300	TIMMDC1	ORPHA:2609
HP:0000077	Abnormality of the kidney	4716	NDUFB10	ORPHA:2609
HP:0000077	Abnormality of the kidney	4723	NDUFV1	ORPHA:2609
HP:0000077	Abnormality of the kidney	55572	FOXRED1	ORPHA:2609
HP:0000077	Abnormality of the kidney	284184	NDUFAF8	ORPHA:2609
HP:0000077	Abnormality of the kidney	4729	NDUFV2	ORPHA:2609
HP:0000077	Abnormality of the kidney	4694	NDUFA1	ORPHA:2609
HP:0000077	Abnormality of the kidney	4724	NDUFS4	ORPHA:2609
HP:0000077	Abnormality of the kidney	4726	NDUFS6	ORPHA:2609
HP:0000077	Abnormality of the kidney	4728	NDUFS8	ORPHA:2609
HP:0000077	Abnormality of the kidney	4722	NDUFS3	ORPHA:2609
HP:0000077	Abnormality of the kidney	79133	NDUFAF5	ORPHA:2609
HP:0000077	Abnormality of the kidney	126328	NDUFA11	ORPHA:2609
HP:0000077	Abnormality of the kidney	4709	NDUFB3	ORPHA:2609
HP:0000077	Abnormality of the kidney	80224	NUBPL	ORPHA:2609
HP:0000077	Abnormality of the kidney	29078	NDUFAF4	ORPHA:2609
HP:0000077	Abnormality of the kidney	374291	NDUFS7	ORPHA:2609
HP:0000077	Abnormality of the kidney	4700	NDUFA6	ORPHA:2609
HP:0000077	Abnormality of the kidney	4719	NDUFS1	ORPHA:2609
HP:0000077	Abnormality of the kidney	4715	NDUFB9	ORPHA:2609
HP:0000077	Abnormality of the kidney	8504	PEX3	OMIM:617370
HP:0000077	Abnormality of the kidney	51095	TRNT1	OMIM:616084
HP:0000077	Abnormality of the kidney	51604	PIGT	OMIM:615398
HP:0000077	Abnormality of the kidney	51604	PIGT	ORPHA:369837
HP:0000077	Abnormality of the kidney	6809	STX3	ORPHA:2290
HP:0000077	Abnormality of the kidney	4645	MYO5B	ORPHA:2290
HP:0000077	Abnormality of the kidney	92335	STRADA	ORPHA:500533
HP:0000077	Abnormality of the kidney	92335	STRADA	OMIM:611087
HP:0000077	Abnormality of the kidney	3643	INSR	ORPHA:508
HP:0000077	Abnormality of the kidney	3643	INSR	ORPHA:769
HP:0000077	Abnormality of the kidney	2767	GNA11	ORPHA:428
HP:0000077	Abnormality of the kidney	846	CASR	ORPHA:428
HP:0000077	Abnormality of the kidney	846	CASR	OMIM:601198
HP:0000077	Abnormality of the kidney	526	ATP6V1B2	ORPHA:79500
HP:0000077	Abnormality of the kidney	249	ALPL	OMIM:241500
HP:0000077	Abnormality of the kidney	51119	SBDS	OMIM:260400
HP:0000077	Abnormality of the kidney	134218	DNAJC21	OMIM:260400
HP:0000077	Abnormality of the kidney	6729	SRP54	OMIM:260400
HP:0000077	Abnormality of the kidney	6506	SLC1A2	OMIM:617105
HP:0000077	Abnormality of the kidney	476	ATP1A1	OMIM:618314
HP:0000077	Abnormality of the kidney	476	ATP1A1	ORPHA:564178
HP:0000077	Abnormality of the kidney	58528	RRAGD	OMIM:620152
HP:0000077	Abnormality of the kidney	5745	PTH1R	OMIM:156400
HP:0000077	Abnormality of the kidney	326	AIRE	OMIM:240300
HP:0000077	Abnormality of the kidney	2530	FUT8	OMIM:618005
HP:0000077	Abnormality of the kidney	5741	PTH	OMIM:146200
HP:0000077	Abnormality of the kidney	5286	PIK3C2A	ORPHA:557003
HP:0000077	Abnormality of the kidney	6557	SLC12A1	OMIM:601678
HP:0000077	Abnormality of the kidney	3758	KCNJ1	OMIM:241200
HP:0000077	Abnormality of the kidney	529	ATP6V1E1	OMIM:617402
HP:0000077	Abnormality of the kidney	1591	CYP24A1	OMIM:143880
HP:0000077	Abnormality of the kidney	57592	ZNF687	OMIM:616833
HP:0000077	Abnormality of the kidney	5518	PPP2R1A	OMIM:616362
HP:0000077	Abnormality of the kidney	5518	PPP2R1A	ORPHA:457284
HP:0000077	Abnormality of the kidney	8294	H4C9	OMIM:619951
HP:0000077	Abnormality of the kidney	128674	PROKR2	OMIM:244200
HP:0000077	Abnormality of the kidney	55503	TRPV6	OMIM:618188
HP:0000077	Abnormality of the kidney	998	CDC42	ORPHA:487796
HP:0000077	Abnormality of the kidney	998	CDC42	OMIM:616737
HP:0000077	Abnormality of the kidney	5832	ALDH18A1	OMIM:616603
HP:0000077	Abnormality of the kidney	5832	ALDH18A1	ORPHA:90348
HP:0000077	Abnormality of the kidney	91801	ALKBH8	OMIM:618504
HP:0000077	Abnormality of the kidney	54499	TMCO1	OMIM:213980
HP:0000077	Abnormality of the kidney	8496	PPFIBP1	OMIM:620024
HP:0000077	Abnormality of the kidney	3417	IDH1	ORPHA:99646
HP:0000077	Abnormality of the kidney	55252	ASXL2	OMIM:617190
HP:0000077	Abnormality of the kidney	50814	NSDHL	OMIM:308050
HP:0000077	Abnormality of the kidney	10516	FBLN5	ORPHA:90348
HP:0000077	Abnormality of the kidney	55788	LMBRD1	ORPHA:79284
HP:0000077	Abnormality of the kidney	9276	COPB2	ORPHA:2512
HP:0000077	Abnormality of the kidney	11113	CIT	ORPHA:2512
HP:0000077	Abnormality of the kidney	22995	CEP152	ORPHA:2512
HP:0000077	Abnormality of the kidney	284403	WDR62	ORPHA:2512
HP:0000077	Abnormality of the kidney	55262	TRAPPC14	ORPHA:2512
HP:0000077	Abnormality of the kidney	163786	SASS6	ORPHA:2512
HP:0000077	Abnormality of the kidney	29920	PYCR2	ORPHA:2512
HP:0000077	Abnormality of the kidney	84879	MFSD2A	ORPHA:2512
HP:0000077	Abnormality of the kidney	4176	MCM7	ORPHA:2512
HP:0000077	Abnormality of the kidney	80254	CEP63	ORPHA:2512
HP:0000077	Abnormality of the kidney	29081	METTL5	ORPHA:2512
HP:0000077	Abnormality of the kidney	23310	NCAPD3	ORPHA:2512
HP:0000077	Abnormality of the kidney	55755	CDK5RAP2	ORPHA:2512
HP:0000077	Abnormality of the kidney	79648	MCPH1	ORPHA:2512
HP:0000077	Abnormality of the kidney	6491	STIL	ORPHA:2512
HP:0000077	Abnormality of the kidney	23141	ANKLE2	ORPHA:2512
HP:0000077	Abnormality of the kidney	259266	ASPM	ORPHA:2512
HP:0000077	Abnormality of the kidney	7109	TRAPPC10	ORPHA:2512
HP:0000077	Abnormality of the kidney	1911	PHC1	ORPHA:2512
HP:0000077	Abnormality of the kidney	6884	TAF13	ORPHA:2512
HP:0000077	Abnormality of the kidney	9662	CEP135	ORPHA:2512
HP:0000077	Abnormality of the kidney	55835	CENPJ	ORPHA:2512
HP:0000077	Abnormality of the kidney	57082	KNL1	ORPHA:2512
HP:0000077	Abnormality of the kidney	1021	CDK6	ORPHA:2512
HP:0000077	Abnormality of the kidney	3730	ANOS1	OMIM:308700
HP:0000077	Abnormality of the kidney	57511	COG6	OMIM:614576
HP:0000077	Abnormality of the kidney	55012	PPP2R3C	OMIM:618419
HP:0000077	Abnormality of the kidney	51729	WBP11	OMIM:619227
HP:0000077	Abnormality of the kidney	2783	GNB2	OMIM:619503
HP:0000077	Abnormality of the kidney	26057	ANKRD17	OMIM:619504
HP:0000077	Abnormality of the kidney	5573	PRKAR1A	OMIM:101800
HP:0000077	Abnormality of the kidney	158326	FREM1	OMIM:608980
HP:0000077	Abnormality of the kidney	6862	TBXT	OMIM:615709
HP:0000077	Abnormality of the kidney	3162	HMOX1	OMIM:614034
HP:0000077	Abnormality of the kidney	5340	PLG	OMIM:217090
HP:0000077	Abnormality of the kidney	5251	PHEX	OMIM:307800
HP:0000077	Abnormality of the kidney	6524	SLC5A2	ORPHA:69076
HP:0000077	Abnormality of the kidney	4570	MT-TN	OMIM:220110
HP:0000077	Abnormality of the kidney	142680	SLC34A3	OMIM:241530
HP:0000077	Abnormality of the kidney	57570	TRMT5	OMIM:616539
HP:0000077	Abnormality of the kidney	5824	PEX19	OMIM:614886
HP:0000077	Abnormality of the kidney	84334	COA8	ORPHA:436271
HP:0000077	Abnormality of the kidney	540	ATP7B	OMIM:277900
HP:0000077	Abnormality of the kidney	6774	STAT3	ORPHA:99885
HP:0000077	Abnormality of the kidney	7750	ZMYM2	OMIM:619522
HP:0000077	Abnormality of the kidney	1656	DDX6	OMIM:618653
HP:0000077	Abnormality of the kidney	2260	FGFR1	OMIM:613001
HP:0000077	Abnormality of the kidney	6095	RORA	OMIM:618060
HP:0000077	Abnormality of the kidney	7528	YY1	ORPHA:506358
HP:0000077	Abnormality of the kidney	7528	YY1	OMIM:617557
HP:0000077	Abnormality of the kidney	8425	LTBP4	OMIM:613177
HP:0000077	Abnormality of the kidney	81857	MED25	OMIM:616449
HP:0000077	Abnormality of the kidney	81857	MED25	ORPHA:464738
HP:0000077	Abnormality of the kidney	538	ATP7A	OMIM:304150
HP:0000077	Abnormality of the kidney	10093	ARPC4	OMIM:620141
HP:0000077	Abnormality of the kidney	197131	UBR1	OMIM:243800
HP:0000077	Abnormality of the kidney	197131	UBR1	ORPHA:2315
HP:0000077	Abnormality of the kidney	2782	GNB1	ORPHA:488613
HP:0000077	Abnormality of the kidney	2782	GNB1	OMIM:616973
HP:0000077	Abnormality of the kidney	9915	ARNT2	OMIM:615926
HP:0000077	Abnormality of the kidney	84720	PIGO	ORPHA:247262
HP:0000077	Abnormality of the kidney	93210	PGAP3	ORPHA:247262
HP:0000077	Abnormality of the kidney	284098	PIGW	ORPHA:247262
HP:0000077	Abnormality of the kidney	27315	PGAP2	ORPHA:247262
HP:0000077	Abnormality of the kidney	55650	PIGV	ORPHA:247262
HP:0000077	Abnormality of the kidney	4001	LMNB1	OMIM:619179
HP:0000077	Abnormality of the kidney	815	CAMK2A	OMIM:617798
HP:0000077	Abnormality of the kidney	92579	G6PC3	OMIM:612541
HP:0000077	Abnormality of the kidney	7994	KAT6A	ORPHA:457193
HP:0000077	Abnormality of the kidney	7994	KAT6A	OMIM:616268
HP:0000077	Abnormality of the kidney	23116	TOGARAM1	OMIM:619185
HP:0000077	Abnormality of the kidney	7466	WFS1	OMIM:222300
HP:0000077	Abnormality of the kidney	2316	FLNA	ORPHA:90652
HP:0000077	Abnormality of the kidney	2316	FLNA	ORPHA:2484
HP:0000077	Abnormality of the kidney	2316	FLNA	OMIM:304120
HP:0000077	Abnormality of the kidney	2316	FLNA	ORPHA:1826
HP:0000077	Abnormality of the kidney	2316	FLNA	OMIM:309350
HP:0000077	Abnormality of the kidney	2316	FLNA	OMIM:305620
HP:0000077	Abnormality of the kidney	2316	FLNA	OMIM:300048
HP:0000077	Abnormality of the kidney	5337	PLD1	OMIM:212093
HP:0000077	Abnormality of the kidney	3981	LIG4	ORPHA:235
HP:0000077	Abnormality of the kidney	54888	NSUN2	ORPHA:235
HP:0000077	Abnormality of the kidney	79971	WLS	OMIM:619648
HP:0000077	Abnormality of the kidney	2065	ERBB3	OMIM:607598
HP:0000077	Abnormality of the kidney	64321	SOX17	OMIM:613674
HP:0000077	Abnormality of the kidney	6654	SOS1	OMIM:610733
HP:0000077	Abnormality of the kidney	4683	NBN	OMIM:251260
HP:0000077	Abnormality of the kidney	5648	MASP1	OMIM:257920
HP:0000077	Abnormality of the kidney	2972	BRF1	ORPHA:444072
HP:0000077	Abnormality of the kidney	388015	RTL1	ORPHA:254528
HP:0000077	Abnormality of the kidney	8788	DLK1	ORPHA:254528
HP:0000077	Abnormality of the kidney	55384	MEG3	ORPHA:254528
HP:0000077	Abnormality of the kidney	389827	MYMK	ORPHA:1358
HP:0000077	Abnormality of the kidney	101929726	MYMX	ORPHA:1358
HP:0000077	Abnormality of the kidney	56975	FAM20C	OMIM:259775
HP:0000077	Abnormality of the kidney	5604	MAP2K1	ORPHA:1340
HP:0000077	Abnormality of the kidney	5605	MAP2K2	ORPHA:1340
HP:0000077	Abnormality of the kidney	2019	EN1	OMIM:619218
HP:0000077	Abnormality of the kidney	6469	SHH	OMIM:142945
HP:0000077	Abnormality of the kidney	23111	SPART	ORPHA:101000
HP:0000077	Abnormality of the kidney	10526	IPO8	OMIM:619472
HP:0000077	Abnormality of the kidney	2892	GRIA3	ORPHA:364028
HP:0000077	Abnormality of the kidney	5530	PPP3CA	OMIM:618265
HP:0000077	Abnormality of the kidney	55617	TASP1	OMIM:618950
HP:0000077	Abnormality of the kidney	51715	RAB23	OMIM:201000
HP:0000077	Abnormality of the kidney	202018	TAPT1	OMIM:616897
HP:0000077	Abnormality of the kidney	5426	POLE	ORPHA:85173
HP:0000077	Abnormality of the kidney	9897	WASHC5	OMIM:220210
HP:0000077	Abnormality of the kidney	9897	WASHC5	ORPHA:7
HP:0000077	Abnormality of the kidney	10491	CRTAP	OMIM:610682
HP:0000077	Abnormality of the kidney	5236	PGM1	OMIM:614921
HP:0000077	Abnormality of the kidney	219844	HYLS1	OMIM:236680
HP:0000077	Abnormality of the kidney	71	ACTG1	ORPHA:2995
HP:0000077	Abnormality of the kidney	60	ACTB	ORPHA:2995
HP:0000077	Abnormality of the kidney	28952	CCDC22	ORPHA:7
HP:0000077	Abnormality of the kidney	6913	TBX15	OMIM:260660
HP:0000077	Abnormality of the kidney	375056	MIA3	OMIM:619269
HP:0000077	Abnormality of the kidney	4281	MID1	ORPHA:2745
HP:0000077	Abnormality of the kidney	7421	VDR	ORPHA:93160
HP:0000077	Abnormality of the kidney	776	CACNA1D	OMIM:615474
HP:0000077	Abnormality of the kidney	776	CACNA1D	ORPHA:369929
HP:0000077	Abnormality of the kidney	1119	CHKA	OMIM:620023
HP:0000077	Abnormality of the kidney	1491	CTH	ORPHA:212
HP:0000077	Abnormality of the kidney	153642	ARSK	OMIM:619698
HP:0000077	Abnormality of the kidney	3756	KCNH1	OMIM:135500
HP:0000077	Abnormality of the kidney	2200	FBN1	ORPHA:2833
HP:0000077	Abnormality of the kidney	3872	KRT17	ORPHA:841
HP:0000077	Abnormality of the kidney	10555	AGPAT2	OMIM:608594
HP:0000077	Abnormality of the kidney	5333	PLCD1	ORPHA:2387
HP:0000077	Abnormality of the kidney	9049	AIP	OMIM:219090
HP:0000077	Abnormality of the kidney	9101	USP8	OMIM:219090
HP:0000077	Abnormality of the kidney	6505	SLC1A1	OMIM:222730
HP:0000077	Abnormality of the kidney	26580	BSCL2	OMIM:269700
HP:0000077	Abnormality of the kidney	9368	NHERF1	OMIM:612287
HP:0000077	Abnormality of the kidney	8622	PDE8B	ORPHA:189439
HP:0000077	Abnormality of the kidney	50940	PDE11A	ORPHA:189439
HP:0000077	Abnormality of the kidney	92667	MGME1	ORPHA:352447
HP:0000077	Abnormality of the kidney	2947	GSTM3	ORPHA:586
HP:0000077	Abnormality of the kidney	7040	TGFB1	ORPHA:586
HP:0000077	Abnormality of the kidney	2729	GCLC	ORPHA:586
HP:0000077	Abnormality of the kidney	1084	CEACAM3	ORPHA:586
HP:0000077	Abnormality of the kidney	6556	SLC11A1	ORPHA:586
HP:0000077	Abnormality of the kidney	51164	DCTN4	ORPHA:586
HP:0000077	Abnormality of the kidney	3783	KCNN4	ORPHA:586
HP:0000077	Abnormality of the kidney	4282	MIF	ORPHA:586
HP:0000077	Abnormality of the kidney	1909	EDNRA	ORPHA:586
HP:0000077	Abnormality of the kidney	6550	SLC9A3	ORPHA:586
HP:0000077	Abnormality of the kidney	115019	SLC26A9	ORPHA:586
HP:0000077	Abnormality of the kidney	3077	HFE	ORPHA:586
HP:0000077	Abnormality of the kidney	11254	SLC6A14	ORPHA:586
HP:0000077	Abnormality of the kidney	22802	CLCA4	ORPHA:586
HP:0000077	Abnormality of the kidney	4680	CEACAM6	ORPHA:586
HP:0000077	Abnormality of the kidney	9581	PREPL	ORPHA:163690
HP:0000077	Abnormality of the kidney	9581	PREPL	ORPHA:163693
HP:0000077	Abnormality of the kidney	5495	PPM1B	ORPHA:163693
HP:0000077	Abnormality of the kidney	79823	CAMKMT	ORPHA:163693
HP:0000077	Abnormality of the kidney	1026	CDKN1A	ORPHA:652
HP:0000077	Abnormality of the kidney	1030	CDKN2B	ORPHA:652
HP:0000077	Abnormality of the kidney	1031	CDKN2C	ORPHA:652
HP:0000077	Abnormality of the kidney	9075	CLDN2	OMIM:301060
HP:0000077	Abnormality of the kidney	6476	SI	OMIM:222900
HP:0000077	Abnormality of the kidney	55367	PIDD1	OMIM:619827
HP:0000077	Abnormality of the kidney	871	SERPINH1	OMIM:613848
HP:0000077	Abnormality of the kidney	6720	SREBF1	OMIM:158310
HP:0000077	Abnormality of the kidney	23395	LARS2	OMIM:617021
HP:0000077	Abnormality of the kidney	10413	YAP1	ORPHA:1473
HP:0000077	Abnormality of the kidney	10413	YAP1	OMIM:120433
HP:0000077	Abnormality of the kidney	55109	AGGF1	ORPHA:90308
HP:0000077	Abnormality of the kidney	2159	F10	ORPHA:328
HP:0000077	Abnormality of the kidney	2153	F5	ORPHA:326
HP:0000077	Abnormality of the kidney	84818	IL17RC	ORPHA:1334
HP:0000077	Abnormality of the kidney	64581	CLEC7A	ORPHA:1334
HP:0000077	Abnormality of the kidney	23765	IL17RA	ORPHA:1334
HP:0000077	Abnormality of the kidney	10758	TRAF3IP2	ORPHA:1334
HP:0000077	Abnormality of the kidney	112744	IL17F	ORPHA:1334
HP:0000077	Abnormality of the kidney	6711	SPTBN1	OMIM:619475
HP:0000077	Abnormality of the kidney	5345	SERPINF2	ORPHA:79
HP:0000077	Abnormality of the kidney	3998	LMAN1	ORPHA:35909
HP:0000077	Abnormality of the kidney	90411	MCFD2	ORPHA:35909
HP:0000077	Abnormality of the kidney	6786	STIM1	OMIM:185070
HP:0000077	Abnormality of the kidney	3673	ITGA2	ORPHA:853
HP:0000077	Abnormality of the kidney	135228	CD109	ORPHA:853
HP:0000077	Abnormality of the kidney	2658	GDF2	ORPHA:774
HP:0000077	Abnormality of the kidney	94	ACVRL1	ORPHA:774
HP:0000077	Abnormality of the kidney	4089	SMAD4	ORPHA:774
HP:0000077	Abnormality of the kidney	2022	ENG	ORPHA:774
HP:0000077	Abnormality of the kidney	5213	PFKM	OMIM:232800
HP:0000077	Abnormality of the kidney	5371	PML	ORPHA:520
HP:0000077	Abnormality of the kidney	5914	RARA	ORPHA:520
HP:0000077	Abnormality of the kidney	359948	IRF2BP2	ORPHA:520
HP:0000077	Abnormality of the kidney	81608	FIP1L1	ORPHA:520
HP:0000077	Abnormality of the kidney	4869	NPM1	ORPHA:520
HP:0000077	Abnormality of the kidney	64859	NABP1	ORPHA:520
HP:0000077	Abnormality of the kidney	6777	STAT5B	ORPHA:520
HP:0000077	Abnormality of the kidney	4926	NUMA1	ORPHA:520
HP:0000077	Abnormality of the kidney	7704	ZBTB16	ORPHA:520
HP:0000077	Abnormality of the kidney	79718	TBL1XR1	ORPHA:520
HP:0000077	Abnormality of the kidney	2629	GBA1	ORPHA:77261
HP:0000077	Abnormality of the kidney	2629	GBA1	ORPHA:77259
HP:0000077	Abnormality of the kidney	7372	UMPS	OMIM:258900
HP:0000077	Abnormality of the kidney	1777	DNASE2	OMIM:619858
HP:0000077	Abnormality of the kidney	712	C1QA	OMIM:613652
HP:0000077	Abnormality of the kidney	5238	PGM3	ORPHA:443811
HP:0000077	Abnormality of the kidney	5238	PGM3	OMIM:615816
HP:0000077	Abnormality of the kidney	5105	PCK1	OMIM:261680
HP:0000077	Abnormality of the kidney	5106	PCK2	OMIM:261650
HP:0000077	Abnormality of the kidney	57465	TBC1D24	OMIM:220500
HP:0000077	Abnormality of the kidney	54903	MKS1	OMIM:249000
HP:0000077	Abnormality of the kidney	166379	BBS12	OMIM:615989
HP:0000077	Abnormality of the kidney	9526	MPDU1	OMIM:609180
HP:0000077	Abnormality of the kidney	9526	MPDU1	ORPHA:79323
HP:0000077	Abnormality of the kidney	9091	PIGQ	OMIM:618548
HP:0000077	Abnormality of the kidney	2108	ETFA	OMIM:231680
HP:0000077	Abnormality of the kidney	2109	ETFB	OMIM:231680
HP:0000077	Abnormality of the kidney	2110	ETFDH	OMIM:231680
HP:0000077	Abnormality of the kidney	1028	CDKN1C	OMIM:130650
HP:0000077	Abnormality of the kidney	10984	KCNQ1OT1	OMIM:130650
HP:0000077	Abnormality of the kidney	3481	IGF2	OMIM:130650
HP:0000077	Abnormality of the kidney	3784	KCNQ1	OMIM:130650
HP:0000077	Abnormality of the kidney	7498	XDH	OMIM:278300
HP:0000077	Abnormality of the kidney	4337	MOCS1	OMIM:252150
HP:0000077	Abnormality of the kidney	4338	MOCS2	OMIM:252160
HP:0000077	Abnormality of the kidney	779	CACNA1S	ORPHA:423
HP:0000077	Abnormality of the kidney	101101692	HELLPAR	ORPHA:244242
HP:0000077	Abnormality of the kidney	6948	TCN2	ORPHA:859
HP:0000077	Abnormality of the kidney	6773	STAT2	OMIM:618886
HP:0000077	Abnormality of the kidney	226	ALDOA	ORPHA:57
HP:0000077	Abnormality of the kidney	3949	LDLR	ORPHA:391665
HP:0000077	Abnormality of the kidney	255738	PCSK9	ORPHA:391665
HP:0000077	Abnormality of the kidney	26119	LDLRAP1	ORPHA:391665
HP:0000077	Abnormality of the kidney	338	APOB	ORPHA:391665
HP:0000077	Abnormality of the kidney	64240	ABCG5	ORPHA:391665
HP:0000077	Abnormality of the kidney	64241	ABCG8	ORPHA:391665
HP:0000077	Abnormality of the kidney	5456	POU3F4	ORPHA:1435
HP:0000077	Abnormality of the kidney	1374	CPT1A	ORPHA:156
HP:0000077	Abnormality of the kidney	1374	CPT1A	OMIM:255120
HP:0000077	Abnormality of the kidney	525	ATP6V1B1	OMIM:267300
HP:0000077	Abnormality of the kidney	57551	TAOK1	OMIM:619575
HP:0000077	Abnormality of the kidney	26235	FBXL4	OMIM:615471
HP:0000077	Abnormality of the kidney	133686	NADK2	ORPHA:431361
HP:0000077	Abnormality of the kidney	5257	PHKB	ORPHA:79240
HP:0000077	Abnormality of the kidney	5256	PHKA2	ORPHA:264580
HP:0000077	Abnormality of the kidney	5261	PHKG2	ORPHA:264580
HP:0000077	Abnormality of the kidney	790	CAD	OMIM:616457
HP:0000077	Abnormality of the kidney	63894	VIPAS39	OMIM:613404
HP:0000077	Abnormality of the kidney	6514	SLC2A2	ORPHA:2088
HP:0000077	Abnormality of the kidney	57724	EPG5	ORPHA:1493
HP:0000077	Abnormality of the kidney	100	ADA	OMIM:102700
HP:0000077	Abnormality of the kidney	57107	PDSS2	ORPHA:255249
HP:0000077	Abnormality of the kidney	11222	MRPL3	OMIM:614582
HP:0000077	Abnormality of the kidney	83480	PUS3	ORPHA:488627
HP:0000077	Abnormality of the kidney	617	BCS1L	OMIM:124000
HP:0000077	Abnormality of the kidney	84300	UQCC2	OMIM:615824
HP:0000077	Abnormality of the kidney	5091	PC	OMIM:266150
HP:0000077	Abnormality of the kidney	760	CA2	ORPHA:2785
HP:0000077	Abnormality of the kidney	11281	POU6F2	OMIM:601583
HP:0000077	Abnormality of the kidney	11281	POU6F2	ORPHA:654
HP:0000077	Abnormality of the kidney	716	C1S	OMIM:617174
HP:0000077	Abnormality of the kidney	9759	HDAC4	ORPHA:1001
HP:0000077	Abnormality of the kidney	5978	REST	OMIM:616806
HP:0000077	Abnormality of the kidney	5978	REST	ORPHA:654
HP:0000077	Abnormality of the kidney	60529	ALX4	ORPHA:52022
HP:0000077	Abnormality of the kidney	51317	PHF21A	ORPHA:52022
HP:0000077	Abnormality of the kidney	10155	TRIM28	ORPHA:654
HP:0000077	Abnormality of the kidney	283120	H19	ORPHA:654
HP:0000077	Abnormality of the kidney	283120	H19	ORPHA:2128
HP:0000077	Abnormality of the kidney	283120	H19	OMIM:194070
HP:0000077	Abnormality of the kidney	5727	PTCH1	ORPHA:77301
HP:0000077	Abnormality of the kidney	641	BLM	ORPHA:125
HP:0000077	Abnormality of the kidney	171023	ASXL1	ORPHA:97297
HP:0000077	Abnormality of the kidney	9184	BUB3	ORPHA:1052
HP:0000077	Abnormality of the kidney	9702	CEP57	ORPHA:1052
HP:0000077	Abnormality of the kidney	4591	TRIM37	OMIM:253250
HP:0000077	Abnormality of the kidney	6662	SOX9	ORPHA:251510
HP:0000077	Abnormality of the kidney	6845	VAMP7	ORPHA:251510
HP:0000077	Abnormality of the kidney	51741	WWOX	ORPHA:251510
HP:0000077	Abnormality of the kidney	4214	MAP3K1	ORPHA:251510
HP:0000077	Abnormality of the kidney	2516	NR5A1	ORPHA:251510
HP:0000077	Abnormality of the kidney	58524	DMRT3	ORPHA:251510
HP:0000077	Abnormality of the kidney	57647	DHX37	ORPHA:251510
HP:0000077	Abnormality of the kidney	23414	ZFPM2	ORPHA:251510
HP:0000077	Abnormality of the kidney	190	NR0B1	ORPHA:251510
HP:0000077	Abnormality of the kidney	2626	GATA4	ORPHA:251510
HP:0000077	Abnormality of the kidney	161742	SPRED1	ORPHA:137605
HP:0000077	Abnormality of the kidney	26040	SETBP1	ORPHA:798
HP:0000077	Abnormality of the kidney	2147	F2	ORPHA:325
HP:0000077	Abnormality of the kidney	54585	LZTFL1	OMIM:615994
HP:0000077	Abnormality of the kidney	10677	AVIL	OMIM:618594
HP:0000077	Abnormality of the kidney	137682	NDUFAF6	OMIM:618913
HP:0000077	Abnormality of the kidney	137682	NDUFAF6	ORPHA:3337
HP:0000077	Abnormality of the kidney	10847	SRCAP	ORPHA:2044
HP:0000077	Abnormality of the kidney	8526	DGKE	OMIM:615008
HP:0000077	Abnormality of the kidney	977	CD151	OMIM:609057
HP:0000077	Abnormality of the kidney	79693	YRDC	OMIM:619609
HP:0000077	Abnormality of the kidney	3913	LAMB2	OMIM:609049
HP:0000077	Abnormality of the kidney	3913	LAMB2	OMIM:614199
HP:0000077	Abnormality of the kidney	55764	IFT122	OMIM:218330
HP:0000077	Abnormality of the kidney	55863	TMEM126B	OMIM:618250
HP:0000077	Abnormality of the kidney	149461	CLDN19	OMIM:248190
HP:0000077	Abnormality of the kidney	10269	ZMPSTE24	OMIM:608612
HP:0000077	Abnormality of the kidney	10253	SPRY2	OMIM:616818
HP:0000077	Abnormality of the kidney	93649	MYOCD	OMIM:618719
HP:0000077	Abnormality of the kidney	50484	RRM2B	OMIM:268315
HP:0000077	Abnormality of the kidney	64127	NOD2	ORPHA:90340
HP:0000077	Abnormality of the kidney	1288	COL4A6	ORPHA:1018
HP:0000077	Abnormality of the kidney	9158	FIBP	OMIM:617107
HP:0000077	Abnormality of the kidney	9158	FIBP	ORPHA:500095
HP:0000077	Abnormality of the kidney	54914	FOCAD	OMIM:619991
HP:0000077	Abnormality of the kidney	22858	CILK1	OMIM:612651
HP:0000077	Abnormality of the kidney	79867	TCTN2	OMIM:613885
HP:0000077	Abnormality of the kidney	10568	SLC34A2	ORPHA:60025
HP:0000077	Abnormality of the kidney	5828	PEX2	OMIM:614866
HP:0000077	Abnormality of the kidney	5189	PEX1	OMIM:214100
HP:0000077	Abnormality of the kidney	10682	EBP	OMIM:300960
HP:0000077	Abnormality of the kidney	9578	CDC42BPB	OMIM:619841
HP:0000077	Abnormality of the kidney	348180	CTU2	OMIM:618142
HP:0000077	Abnormality of the kidney	23556	PIGN	ORPHA:280633
HP:0000077	Abnormality of the kidney	25914	RTTN	ORPHA:468631
HP:0000077	Abnormality of the kidney	8802	SUCLG1	ORPHA:17
HP:0000077	Abnormality of the kidney	84992	PIGY	OMIM:616809
HP:0000077	Abnormality of the kidney	3075	CFH	OMIM:609814
HP:0000077	Abnormality of the kidney	5194	PEX13	OMIM:614883
HP:0000077	Abnormality of the kidney	2317	FLNB	ORPHA:1190
HP:0000077	Abnormality of the kidney	11231	SEC63	ORPHA:2924
HP:0000077	Abnormality of the kidney	5589	PRKCSH	ORPHA:2924
HP:0000077	Abnormality of the kidney	4041	LRP5	ORPHA:2924
HP:0000077	Abnormality of the kidney	1186	CLCN7	OMIM:618541
HP:0000077	Abnormality of the kidney	8449	DHX16	OMIM:618733
HP:0000077	Abnormality of the kidney	10015	PDCD6IP	OMIM:620047
HP:0000077	Abnormality of the kidney	2591	GALNT3	OMIM:211900
HP:0000077	Abnormality of the kidney	4036	LRP2	OMIM:222448
HP:0000077	Abnormality of the kidney	11093	ADAMTS13	OMIM:274150
HP:0000077	Abnormality of the kidney	55858	TMEM165	OMIM:614727
HP:0000077	Abnormality of the kidney	4179	CD46	OMIM:612922
HP:0000077	Abnormality of the kidney	629	CFB	OMIM:612924
HP:0000077	Abnormality of the kidney	7056	THBD	OMIM:612926
HP:0000077	Abnormality of the kidney	3078	CFHR1	OMIM:235400
HP:0000077	Abnormality of the kidney	10878	CFHR3	OMIM:235400
HP:0000077	Abnormality of the kidney	54	ACP5	OMIM:607944
HP:0000077	Abnormality of the kidney	2632	GBE1	OMIM:232500
HP:0000077	Abnormality of the kidney	84168	ANTXR1	OMIM:230740
HP:0000077	Abnormality of the kidney	2719	GPC3	OMIM:312870
HP:0000077	Abnormality of the kidney	2239	GPC4	OMIM:312870
HP:0000077	Abnormality of the kidney	388662	SLC6A17	ORPHA:457212
HP:0000077	Abnormality of the kidney	595	CCND1	ORPHA:892
HP:0000077	Abnormality of the kidney	595	CCND1	OMIM:114500
HP:0000077	Abnormality of the kidney	595	CCND1	OMIM:193300
HP:0000077	Abnormality of the kidney	6714	SRC	OMIM:114500
HP:0000077	Abnormality of the kidney	10395	DLC1	OMIM:114500
HP:0000077	Abnormality of the kidney	8313	AXIN2	OMIM:114500
HP:0000077	Abnormality of the kidney	5782	PTPN12	OMIM:114500
HP:0000077	Abnormality of the kidney	5320	PLA2G2A	OMIM:114500
HP:0000077	Abnormality of the kidney	6790	AURKA	OMIM:114500
HP:0000077	Abnormality of the kidney	1630	DCC	OMIM:114500
HP:0000077	Abnormality of the kidney	27030	MLH3	OMIM:114500
HP:0000077	Abnormality of the kidney	581	BAX	OMIM:114500
HP:0000077	Abnormality of the kidney	25788	RAD54B	OMIM:114500
HP:0000077	Abnormality of the kidney	699	BUB1	OMIM:114500
HP:0000077	Abnormality of the kidney	701	BUB1B	OMIM:114500
HP:0000077	Abnormality of the kidney	7097	TLR2	OMIM:114500
HP:0000077	Abnormality of the kidney	1499	CTNNB1	OMIM:114500
HP:0000077	Abnormality of the kidney	4163	MCC	OMIM:114500
HP:0000077	Abnormality of the kidney	5157	PDGFRL	OMIM:114500
HP:0000077	Abnormality of the kidney	5795	PTPRJ	OMIM:114500
HP:0000077	Abnormality of the kidney	7030	TFE3	OMIM:300854
HP:0000077	Abnormality of the kidney	79798	ARMC5	ORPHA:189427
HP:0000077	Abnormality of the kidney	2778	GNAS	ORPHA:189427
HP:0000077	Abnormality of the kidney	8314	BAP1	OMIM:614327
HP:0000077	Abnormality of the kidney	6794	STK11	ORPHA:2869
HP:0000077	Abnormality of the kidney	4968	OGG1	OMIM:144700
HP:0000077	Abnormality of the kidney	11236	RNF139	OMIM:144700
HP:0000077	Abnormality of the kidney	55193	PBRM1	OMIM:144700
HP:0000077	Abnormality of the kidney	9817	KEAP1	ORPHA:276399
HP:0000077	Abnormality of the kidney	23405	DICER1	ORPHA:276399
HP:0000077	Abnormality of the kidney	7373	COL14A1	ORPHA:79501
HP:0000077	Abnormality of the kidney	79719	AAGAB	ORPHA:79501
HP:0000077	Abnormality of the kidney	10229	COQ7	OMIM:616733
HP:0000077	Abnormality of the kidney	11274	USP18	OMIM:617397
HP:0000077	Abnormality of the kidney	2304	FOXE1	ORPHA:319487
HP:0000077	Abnormality of the kidney	3026	HABP2	ORPHA:319487
HP:0000077	Abnormality of the kidney	9562	MINPP1	ORPHA:319487
HP:0000077	Abnormality of the kidney	4233	MET	OMIM:605074
HP:0000077	Abnormality of the kidney	5546	PRCC	OMIM:605074
HP:0000077	Abnormality of the kidney	4598	MVK	OMIM:260920
HP:0000077	Abnormality of the kidney	1027	CDKN1B	OMIM:610755
HP:0000077	Abnormality of the kidney	1027	CDKN1B	ORPHA:276152
HP:0000077	Abnormality of the kidney	50617	ATP6V0A4	OMIM:602722
HP:0000077	Abnormality of the kidney	129563	DIS3L2	OMIM:267000
HP:0000077	Abnormality of the kidney	1314	COPA	OMIM:616414
HP:0000077	Abnormality of the kidney	10861	SLC26A1	OMIM:167030
HP:0000077	Abnormality of the kidney	26873	OPLAH	OMIM:260005
HP:0000077	Abnormality of the kidney	55811	ADCY10	ORPHA:2197
HP:0000077	Abnormality of the kidney	55811	ADCY10	OMIM:143870
HP:0000077	Abnormality of the kidney	51256	TBC1D7	OMIM:248000
HP:0000077	Abnormality of the kidney	112817	HOGA1	OMIM:613616
HP:0000077	Abnormality of the kidney	112817	HOGA1	ORPHA:93600
HP:0000077	Abnormality of the kidney	153201	SLC36A2	OMIM:138500
HP:0000077	Abnormality of the kidney	27238	GPKOW	ORPHA:2570
HP:0000077	Abnormality of the kidney	1718	DHCR24	ORPHA:35107
HP:0000077	Abnormality of the kidney	8195	MKKS	ORPHA:2473
HP:0000077	Abnormality of the kidney	5075	PAX1	ORPHA:2792
HP:0000077	Abnormality of the kidney	10262	SF3B4	ORPHA:1788
HP:0000077	Abnormality of the kidney	10210	TOPORS	ORPHA:2754
HP:0000077	Abnormality of the kidney	9851	KIAA0753	ORPHA:2754
HP:0000077	Abnormality of the kidney	65250	CPLANE1	ORPHA:2754
HP:0000077	Abnormality of the kidney	317662	FAM149B1	ORPHA:2754
HP:0000077	Abnormality of the kidney	374654	KIF7	ORPHA:2754
HP:0000077	Abnormality of the kidney	9573	GDF3	ORPHA:2345
HP:0000077	Abnormality of the kidney	4222	MEOX1	ORPHA:2345
HP:0000077	Abnormality of the kidney	170302	ARX	ORPHA:2508
HP:0000077	Abnormality of the kidney	7355	SLC35A2	ORPHA:356961
HP:0000077	Abnormality of the kidney	2811	GP1BA	ORPHA:274
HP:0000077	Abnormality of the kidney	2815	GP9	ORPHA:274
HP:0000077	Abnormality of the kidney	4292	MLH1	ORPHA:587
HP:0000077	Abnormality of the kidney	2956	MSH6	ORPHA:587
HP:0000077	Abnormality of the kidney	4436	MSH2	ORPHA:587
HP:0000077	Abnormality of the kidney	126792	B3GALT6	ORPHA:536467
HP:0000077	Abnormality of the kidney	201163	FLCN	OMIM:135150
HP:0000077	Abnormality of the kidney	25913	POT1	OMIM:616568
HP:0000077	Abnormality of the kidney	64218	SEMA4A	ORPHA:440437
HP:0000077	Abnormality of the kidney	657	BMPR1A	ORPHA:440437
HP:0000077	Abnormality of the kidney	7486	WRN	ORPHA:902
HP:0000077	Abnormality of the kidney	7157	TP53	ORPHA:524
HP:0000077	Abnormality of the kidney	1029	CDKN2A	ORPHA:524
HP:0000077	Abnormality of the kidney	11200	CHEK2	ORPHA:524
HP:0000077	Abnormality of the kidney	2258	FGF13	OMIM:301058
HP:0000077	Abnormality of the kidney	1182	CLCN3	OMIM:619512
HP:0000077	Abnormality of the kidney	10398	MYL9	OMIM:619365
HP:0000077	Abnormality of the kidney	93627	TBCK	OMIM:616900
HP:0000077	Abnormality of the kidney	10472	ZBTB18	OMIM:612337
HP:0000077	Abnormality of the kidney	2294	FOXF1	OMIM:265380
HP:0000077	Abnormality of the kidney	27077	B9D1	OMIM:617120
HP:0000077	Abnormality of the kidney	3190	HNRNPK	OMIM:616580
HP:0000077	Abnormality of the kidney	91179	SCARF2	OMIM:600920
HP:0000077	Abnormality of the kidney	5297	PI4KA	OMIM:619708
HP:0000077	Abnormality of the kidney	1859	DYRK1A	ORPHA:268261
HP:0000077	Abnormality of the kidney	26281	FGF20	OMIM:615721
HP:0000077	Abnormality of the kidney	9653	HS2ST1	OMIM:619194
HP:0000077	Abnormality of the kidney	2674	GFRA1	OMIM:619887
HP:0000077	Abnormality of the kidney	55191	NADSYN1	OMIM:618845
HP:0000077	Abnormality of the kidney	8516	ITGA8	OMIM:191830
HP:0000077	Abnormality of the kidney	1758	DMP1	ORPHA:289176
HP:0000077	Abnormality of the kidney	5167	ENPP1	ORPHA:289176
HP:0000077	Abnormality of the kidney	4174	MCM5	OMIM:617564
HP:0000077	Abnormality of the kidney	10149	ADGRG2	ORPHA:48
HP:0000077	Abnormality of the kidney	1080	CFTR	ORPHA:48
HP:0000077	Abnormality of the kidney	11146	GLMN	ORPHA:83454
HP:0000077	Abnormality of the kidney	55690	PACS1	ORPHA:329224
HP:0000077	Abnormality of the kidney	5053	PAH	ORPHA:2209
HP:0000077	Abnormality of the kidney	5551	PRF1	ORPHA:540
HP:0000077	Abnormality of the kidney	8676	STX11	ORPHA:540
HP:0000077	Abnormality of the kidney	201294	UNC13D	ORPHA:540
HP:0000077	Abnormality of the kidney	6813	STXBP2	ORPHA:540
HP:0000077	Abnormality of the kidney	1019	CDK4	ORPHA:99971
HP:0000077	Abnormality of the kidney	7276	TTR	ORPHA:85447
HP:0000077	Abnormality of the kidney	1534	CYB561	OMIM:618182
HP:0000077	Abnormality of the kidney	3081	HGD	OMIM:203500
HP:0000077	Abnormality of the kidney	4052	LTBP1	ORPHA:90349
HP:0000077	Abnormality of the kidney	30008	EFEMP2	ORPHA:90349
HP:0000077	Abnormality of the kidney	113179	ADAT3	ORPHA:363528
HP:0000077	Abnormality of the kidney	8074	FGF23	OMIM:617993
HP:0000077	Abnormality of the kidney	1861	TOR1A	OMIM:618947
HP:0000077	Abnormality of the kidney	3716	JAK1	OMIM:618999
HP:0000077	Abnormality of the kidney	25959	KANK2	OMIM:617783
HP:0000077	Abnormality of the kidney	5361	PLXNA1	OMIM:619955
HP:0000077	Abnormality of the kidney	26005	C2CD3	OMIM:615948
HP:0000077	Abnormality of the kidney	8367	H4C5	OMIM:619950
HP:0000077	Abnormality of the kidney	1063	CENPF	OMIM:243605
HP:0000077	Abnormality of the kidney	57178	ZMIZ1	OMIM:618659
HP:0000077	Abnormality of the kidney	5081	PAX7	OMIM:618578
HP:0000077	Abnormality of the kidney	2157	F8	ORPHA:169802
HP:0000077	Abnormality of the kidney	3674	ITGA2B	ORPHA:849
HP:0000077	Abnormality of the kidney	3690	ITGB3	ORPHA:849
HP:0000077	Abnormality of the kidney	2639	GCDH	ORPHA:25
HP:0000077	Abnormality of the kidney	10686	CLDN16	OMIM:248250
HP:0000077	Abnormality of the kidney	5837	PYGM	ORPHA:368
HP:0000077	Abnormality of the kidney	4914	NTRK1	ORPHA:642
HP:0000077	Abnormality of the kidney	5498	PPOX	ORPHA:79473
HP:0000077	Abnormality of the kidney	54938	SARS2	OMIM:613845
HP:0000077	Abnormality of the kidney	567	B2M	ORPHA:314652
HP:0000077	Abnormality of the kidney	91461	PKDCC	OMIM:618821
HP:0000077	Abnormality of the kidney	1136	CHRNA3	OMIM:191800
HP:0000077	Abnormality of the kidney	6522	SLC4A2	OMIM:620366
HP:0000077	Abnormality of the kidney	5442	POLRMT	OMIM:619743
HP:0000077	Abnormality of the kidney	9361	LONP1	ORPHA:79243
HP:0000077	Abnormality of the kidney	5160	PDHA1	ORPHA:79243
HP:0000077	Abnormality of the kidney	340533	NEXMIF	OMIM:300912
HP:0000077	Abnormality of the kidney	403	ARL3	OMIM:618161
HP:0000077	Abnormality of the kidney	6521	SLC4A1	OMIM:179800
HP:0000077	Abnormality of the kidney	7535	ZAP70	OMIM:617006
HP:0000077	Abnormality of the kidney	57104	PNPLA2	ORPHA:565612
HP:0000077	Abnormality of the kidney	7289	TULP3	OMIM:619902
HP:0000077	Abnormality of the kidney	2212	FCGR2A	OMIM:152700
HP:0000077	Abnormality of the kidney	2213	FCGR2B	OMIM:152700
HP:0000077	Abnormality of the kidney	1773	DNASE1	OMIM:152700
HP:0000077	Abnormality of the kidney	54805	CNNM2	OMIM:613882
HP:0000077	Abnormality of the kidney	183	AGT	OMIM:267430
HP:0000077	Abnormality of the kidney	185	AGTR1	OMIM:267430
HP:0000077	Abnormality of the kidney	1636	ACE	OMIM:267430
HP:0000077	Abnormality of the kidney	4629	MYH11	OMIM:619351
HP:0000077	Abnormality of the kidney	6261	RYR1	ORPHA:466650
HP:0000077	Abnormality of the kidney	788	SLC25A20	ORPHA:159
HP:0000077	Abnormality of the kidney	894	CCND2	ORPHA:83473
HP:0000077	Abnormality of the kidney	5296	PIK3R2	ORPHA:83473
HP:0000077	Abnormality of the kidney	10000	AKT3	ORPHA:83473
HP:0000077	Abnormality of the kidney	55784	MCTP2	ORPHA:1596
HP:0000077	Abnormality of the kidney	2314	FLII	ORPHA:819
HP:0000077	Abnormality of the kidney	23096	IQSEC2	ORPHA:819
HP:0000077	Abnormality of the kidney	10743	RAI1	ORPHA:819
HP:0000077	Abnormality of the kidney	10522	DEAF1	ORPHA:819
HP:0000077	Abnormality of the kidney	22930	RAB3GAP1	ORPHA:2510
HP:0000077	Abnormality of the kidney	25782	RAB3GAP2	ORPHA:2510
HP:0000077	Abnormality of the kidney	22931	RAB18	ORPHA:2510
HP:0000077	Abnormality of the kidney	128637	TBC1D20	ORPHA:2510
HP:0000077	Abnormality of the kidney	5781	PTPN11	ORPHA:500
HP:0000077	Abnormality of the kidney	673	BRAF	ORPHA:500
HP:0000077	Abnormality of the kidney	5894	RAF1	ORPHA:500
HP:0000077	Abnormality of the kidney	50945	TBX22	ORPHA:921
HP:0000077	Abnormality of the kidney	51322	WAC	ORPHA:466950
HP:0000077	Abnormality of the kidney	4297	KMT2A	ORPHA:319182
HP:0000077	Abnormality of the kidney	11128	POLR3A	ORPHA:3455
HP:0000077	Abnormality of the kidney	55249	YY1AP1	OMIM:602531
HP:0000077	Abnormality of the kidney	1281	COL3A1	ORPHA:286
HP:0000077	Abnormality of the kidney	6772	STAT1	ORPHA:391487
HP:0000077	Abnormality of the kidney	10043	TOM1	ORPHA:391487
HP:0000077	Abnormality of the kidney	9896	FIG4	ORPHA:3472
HP:0000077	Abnormality of the kidney	55697	VAC14	ORPHA:3472
HP:0000077	Abnormality of the kidney	64131	XYLT1	OMIM:264800
HP:0000077	Abnormality of the kidney	64132	XYLT2	OMIM:264800
HP:0000077	Abnormality of the kidney	368	ABCC6	OMIM:264800
HP:0000077	Abnormality of the kidney	9663	LPIN2	ORPHA:77297
HP:0000077	Abnormality of the kidney	7454	WAS	ORPHA:906
HP:0000077	Abnormality of the kidney	7456	WIPF1	ORPHA:906
HP:0000077	Abnormality of the kidney	84823	LMNB2	ORPHA:79087
HP:0000077	Abnormality of the kidney	2303	FOXC2	ORPHA:33001
HP:0000077	Abnormality of the kidney	4552	MTRR	ORPHA:2169
HP:0000077	Abnormality of the kidney	4000	LMNA	ORPHA:2348
HP:0000077	Abnormality of the kidney	8671	SLC4A4	OMIM:604278
HP:0000078	Abnormality of the genital system	6911	TBX6	ORPHA:1797
HP:0000078	Abnormality of the genital system	7248	TSC1	ORPHA:538
HP:0000078	Abnormality of the genital system	7249	TSC2	ORPHA:538
HP:0000078	Abnormality of the genital system	5979	RET	ORPHA:1848
HP:0000078	Abnormality of the genital system	26281	FGF20	ORPHA:1848
HP:0000078	Abnormality of the genital system	2674	GFRA1	ORPHA:1848
HP:0000078	Abnormality of the genital system	7484	WNT9B	ORPHA:1848
HP:0000078	Abnormality of the genital system	128	ADH5	OMIM:619151
HP:0000078	Abnormality of the genital system	51199	NIN	OMIM:614851
HP:0000078	Abnormality of the genital system	3081	HGD	ORPHA:56
HP:0000078	Abnormality of the genital system	695	BTK	OMIM:300755
HP:0000078	Abnormality of the genital system	695	BTK	OMIM:307200
HP:0000078	Abnormality of the genital system	1493	CTLA4	ORPHA:900
HP:0000078	Abnormality of the genital system	26191	PTPN22	ORPHA:900
HP:0000078	Abnormality of the genital system	3115	HLA-DPB1	ORPHA:900
HP:0000078	Abnormality of the genital system	5657	PRTN3	ORPHA:900
HP:0000078	Abnormality of the genital system	3113	HLA-DPA1	ORPHA:900
HP:0000078	Abnormality of the genital system	1497	CTNS	OMIM:219800
HP:0000078	Abnormality of the genital system	326	AIRE	OMIM:240300
HP:0000078	Abnormality of the genital system	1770	DNAH9	OMIM:618300
HP:0000078	Abnormality of the genital system	84515	MCM8	OMIM:612885
HP:0000078	Abnormality of the genital system	4438	MSH4	OMIM:108420
HP:0000078	Abnormality of the genital system	317761	C14orf39	OMIM:619202
HP:0000078	Abnormality of the genital system	1080	CFTR	OMIM:277180
HP:0000078	Abnormality of the genital system	1080	CFTR	ORPHA:399805
HP:0000078	Abnormality of the genital system	6875	TAF4B	OMIM:615841
HP:0000078	Abnormality of the genital system	6875	TAF4B	ORPHA:399805
HP:0000078	Abnormality of the genital system	84225	ZMYND15	OMIM:615842
HP:0000078	Abnormality of the genital system	84225	ZMYND15	ORPHA:399805
HP:0000078	Abnormality of the genital system	56155	TEX14	OMIM:617707
HP:0000078	Abnormality of the genital system	56155	TEX14	ORPHA:399805
HP:0000078	Abnormality of the genital system	91057	CCDC34	ORPHA:399805
HP:0000078	Abnormality of the genital system	402381	SOHLH1	ORPHA:399805
HP:0000078	Abnormality of the genital system	317719	KLHL10	ORPHA:399805
HP:0000078	Abnormality of the genital system	154197	PNLDC1	ORPHA:399805
HP:0000078	Abnormality of the genital system	93426	SYCE1	ORPHA:399805
HP:0000078	Abnormality of the genital system	340719	NANOS1	ORPHA:399805
HP:0000078	Abnormality of the genital system	340719	NANOS1	OMIM:615413
HP:0000078	Abnormality of the genital system	50511	SYCP3	ORPHA:399805
HP:0000078	Abnormality of the genital system	50511	SYCP3	OMIM:270960
HP:0000078	Abnormality of the genital system	8915	BCL10	OMIM:273300
HP:0000078	Abnormality of the genital system	3815	KIT	OMIM:273300
HP:0000078	Abnormality of the genital system	2629	GBA1	ORPHA:2072
HP:0000078	Abnormality of the genital system	79184	BRCC3	ORPHA:280679
HP:0000078	Abnormality of the genital system	161497	STRC	ORPHA:94064
HP:0000078	Abnormality of the genital system	117155	CATSPER2	ORPHA:94064
HP:0000078	Abnormality of the genital system	93953	GCNA	OMIM:301077
HP:0000078	Abnormality of the genital system	10149	ADGRG2	OMIM:300985
HP:0000078	Abnormality of the genital system	5161	PDHA2	OMIM:619828
HP:0000078	Abnormality of the genital system	130951	M1AP	OMIM:619108
HP:0000078	Abnormality of the genital system	9082	XKRY	OMIM:415000
HP:0000078	Abnormality of the genital system	8284	KDM5D	OMIM:415000
HP:0000078	Abnormality of the genital system	442862	PRY2	OMIM:415000
HP:0000078	Abnormality of the genital system	9081	PRY	OMIM:415000
HP:0000078	Abnormality of the genital system	140032	RPS4Y2	OMIM:415000
HP:0000078	Abnormality of the genital system	9426	CDY2A	OMIM:415000
HP:0000078	Abnormality of the genital system	9083	BPY2	OMIM:415000
HP:0000078	Abnormality of the genital system	86614	HSFY1	OMIM:415000
HP:0000078	Abnormality of the genital system	9084	VCY	OMIM:415000
HP:0000078	Abnormality of the genital system	9085	CDY1	OMIM:415000
HP:0000078	Abnormality of the genital system	6342	SCP2	OMIM:613724
HP:0000078	Abnormality of the genital system	23394	ADNP	ORPHA:404448
HP:0000078	Abnormality of the genital system	23394	ADNP	OMIM:615873
HP:0000078	Abnormality of the genital system	23135	KDM6B	OMIM:618505
HP:0000078	Abnormality of the genital system	1024	CDK8	OMIM:618748
HP:0000078	Abnormality of the genital system	1788	DNMT3A	ORPHA:404443
HP:0000078	Abnormality of the genital system	7258	TSPY1	ORPHA:1646
HP:0000078	Abnormality of the genital system	57055	DAZ2	ORPHA:1646
HP:0000078	Abnormality of the genital system	57135	DAZ4	ORPHA:1646
HP:0000078	Abnormality of the genital system	8287	USP9Y	ORPHA:1646
HP:0000078	Abnormality of the genital system	5940	RBMY1A1	ORPHA:1646
HP:0000078	Abnormality of the genital system	57054	DAZ3	ORPHA:1646
HP:0000078	Abnormality of the genital system	8653	DDX3Y	ORPHA:1646
HP:0000078	Abnormality of the genital system	1617	DAZ1	ORPHA:1646
HP:0000078	Abnormality of the genital system	80816	ASXL3	OMIM:615485
HP:0000078	Abnormality of the genital system	55690	PACS1	OMIM:615009
HP:0000078	Abnormality of the genital system	55690	PACS1	ORPHA:329224
HP:0000078	Abnormality of the genital system	55904	KMT2E	OMIM:618512
HP:0000078	Abnormality of the genital system	2192	FBLN1	ORPHA:404451
HP:0000078	Abnormality of the genital system	284403	WDR62	OMIM:604317
HP:0000078	Abnormality of the genital system	3190	HNRNPK	OMIM:616580
HP:0000078	Abnormality of the genital system	3190	HNRNPK	ORPHA:453504
HP:0000078	Abnormality of the genital system	3190	HNRNPK	ORPHA:352665
HP:0000078	Abnormality of the genital system	54453	RIN2	OMIM:613075
HP:0000078	Abnormality of the genital system	54453	RIN2	ORPHA:217335
HP:0000078	Abnormality of the genital system	113189	CHST14	ORPHA:2953
HP:0000078	Abnormality of the genital system	113189	CHST14	OMIM:601776
HP:0000078	Abnormality of the genital system	29940	DSE	ORPHA:2953
HP:0000078	Abnormality of the genital system	7994	KAT6A	ORPHA:457193
HP:0000078	Abnormality of the genital system	55681	SCYL2	OMIM:618766
HP:0000078	Abnormality of the genital system	10484	SEC23A	OMIM:607812
HP:0000078	Abnormality of the genital system	23327	NEDD4L	OMIM:617201
HP:0000078	Abnormality of the genital system	8036	SHOC2	ORPHA:2701
HP:0000078	Abnormality of the genital system	8036	SHOC2	OMIM:607721
HP:0000078	Abnormality of the genital system	5500	PPP1CB	ORPHA:2701
HP:0000078	Abnormality of the genital system	5500	PPP1CB	OMIM:617506
HP:0000078	Abnormality of the genital system	9860	LRIG2	ORPHA:2704
HP:0000078	Abnormality of the genital system	60495	HPSE2	ORPHA:2704
HP:0000078	Abnormality of the genital system	60495	HPSE2	OMIM:236730
HP:0000078	Abnormality of the genital system	23512	SUZ12	OMIM:618786
HP:0000078	Abnormality of the genital system	23512	SUZ12	ORPHA:3447
HP:0000078	Abnormality of the genital system	51633	OTUD6B	OMIM:617452
HP:0000078	Abnormality of the genital system	51633	OTUD6B	ORPHA:505237
HP:0000078	Abnormality of the genital system	641	BLM	OMIM:210900
HP:0000078	Abnormality of the genital system	57688	ZSWIM6	OMIM:603671
HP:0000078	Abnormality of the genital system	57688	ZSWIM6	ORPHA:1827
HP:0000078	Abnormality of the genital system	23483	TGDS	OMIM:616145
HP:0000078	Abnormality of the genital system	5881	RAC3	OMIM:618577
HP:0000078	Abnormality of the genital system	5081	PAX7	OMIM:618578
HP:0000078	Abnormality of the genital system	389827	MYMK	OMIM:254940
HP:0000078	Abnormality of the genital system	7291	TWIST1	ORPHA:794
HP:0000078	Abnormality of the genital system	2261	FGFR3	ORPHA:794
HP:0000078	Abnormality of the genital system	2261	FGFR3	ORPHA:2363
HP:0000078	Abnormality of the genital system	1798	DPAGT1	OMIM:608093
HP:0000078	Abnormality of the genital system	2972	BRF1	ORPHA:444072
HP:0000078	Abnormality of the genital system	2972	BRF1	OMIM:616202
HP:0000078	Abnormality of the genital system	4952	OCRL	ORPHA:534
HP:0000078	Abnormality of the genital system	4952	OCRL	OMIM:309000
HP:0000078	Abnormality of the genital system	4784	NFIX	OMIM:602535
HP:0000078	Abnormality of the genital system	84340	GFM2	ORPHA:565624
HP:0000078	Abnormality of the genital system	4927	NUP88	ORPHA:994
HP:0000078	Abnormality of the genital system	4927	NUP88	OMIM:618393
HP:0000078	Abnormality of the genital system	7846	TUBA1A	ORPHA:994
HP:0000078	Abnormality of the genital system	4654	MYOD1	ORPHA:994
HP:0000078	Abnormality of the genital system	4593	MUSK	ORPHA:994
HP:0000078	Abnormality of the genital system	4593	MUSK	OMIM:208150
HP:0000078	Abnormality of the genital system	5913	RAPSN	ORPHA:994
HP:0000078	Abnormality of the genital system	5913	RAPSN	OMIM:618388
HP:0000078	Abnormality of the genital system	6572	SLC18A3	ORPHA:994
HP:0000078	Abnormality of the genital system	285489	DOK7	ORPHA:994
HP:0000078	Abnormality of the genital system	134218	DNAJC21	OMIM:617052
HP:0000078	Abnormality of the genital system	94005	PIGS	OMIM:618143
HP:0000078	Abnormality of the genital system	2317	FLNB	ORPHA:503
HP:0000078	Abnormality of the genital system	2317	FLNB	ORPHA:1263
HP:0000078	Abnormality of the genital system	2317	FLNB	OMIM:108720
HP:0000078	Abnormality of the genital system	2317	FLNB	OMIM:150250
HP:0000078	Abnormality of the genital system	10283	CWC27	ORPHA:166035
HP:0000078	Abnormality of the genital system	10682	EBP	OMIM:300960
HP:0000078	Abnormality of the genital system	10682	EBP	ORPHA:401973
HP:0000078	Abnormality of the genital system	4841	NONO	OMIM:300967
HP:0000078	Abnormality of the genital system	4841	NONO	ORPHA:466791
HP:0000078	Abnormality of the genital system	23112	TNRC6B	OMIM:619243
HP:0000078	Abnormality of the genital system	91875	TTC5	OMIM:619244
HP:0000078	Abnormality of the genital system	7169	TPM2	OMIM:108120
HP:0000078	Abnormality of the genital system	23133	PHF8	ORPHA:85287
HP:0000078	Abnormality of the genital system	5557	PRIM1	OMIM:620005
HP:0000078	Abnormality of the genital system	55294	FBXW7	OMIM:620012
HP:0000078	Abnormality of the genital system	9915	ARNT2	ORPHA:3157
HP:0000078	Abnormality of the genital system	9915	ARNT2	OMIM:615926
HP:0000078	Abnormality of the genital system	6095	RORA	OMIM:618060
HP:0000078	Abnormality of the genital system	23241	PACS2	OMIM:618067
HP:0000078	Abnormality of the genital system	10978	CLP1	OMIM:615803
HP:0000078	Abnormality of the genital system	10225	CD96	OMIM:211750
HP:0000078	Abnormality of the genital system	10225	CD96	ORPHA:1308
HP:0000078	Abnormality of the genital system	92579	G6PC3	OMIM:612541
HP:0000078	Abnormality of the genital system	23545	ATP6V0A2	OMIM:278250
HP:0000078	Abnormality of the genital system	23545	ATP6V0A2	ORPHA:2834
HP:0000078	Abnormality of the genital system	84300	UQCC2	OMIM:615824
HP:0000078	Abnormality of the genital system	79053	ALG8	OMIM:608104
HP:0000078	Abnormality of the genital system	54496	PRMT7	ORPHA:464288
HP:0000078	Abnormality of the genital system	165	AEBP1	ORPHA:536532
HP:0000078	Abnormality of the genital system	165	AEBP1	OMIM:618000
HP:0000078	Abnormality of the genital system	9653	HS2ST1	OMIM:619194
HP:0000078	Abnormality of the genital system	64327	LMBR1	ORPHA:2378
HP:0000078	Abnormality of the genital system	23345	SYNE1	ORPHA:319332
HP:0000078	Abnormality of the genital system	23345	SYNE1	OMIM:618484
HP:0000078	Abnormality of the genital system	6091	ROBO1	ORPHA:95496
HP:0000078	Abnormality of the genital system	23432	GPR161	ORPHA:95496
HP:0000078	Abnormality of the genital system	4094	MAF	ORPHA:1272
HP:0000078	Abnormality of the genital system	10436	EMG1	ORPHA:1270
HP:0000078	Abnormality of the genital system	2255	FGF10	ORPHA:2363
HP:0000078	Abnormality of the genital system	283120	H19	ORPHA:2128
HP:0000078	Abnormality of the genital system	147372	CCBE1	OMIM:235510
HP:0000078	Abnormality of the genital system	8726	EED	ORPHA:3447
HP:0000078	Abnormality of the genital system	8726	EED	OMIM:617561
HP:0000078	Abnormality of the genital system	6567	SLC16A2	ORPHA:59
HP:0000078	Abnormality of the genital system	55023	PHIP	ORPHA:589905
HP:0000078	Abnormality of the genital system	55023	PHIP	OMIM:617991
HP:0000078	Abnormality of the genital system	3640	INSL3	OMIM:219050
HP:0000078	Abnormality of the genital system	4854	NOTCH3	OMIM:130720
HP:0000078	Abnormality of the genital system	4854	NOTCH3	ORPHA:2789
HP:0000078	Abnormality of the genital system	2891	GRIA2	OMIM:618917
HP:0000078	Abnormality of the genital system	10560	SLC19A2	OMIM:249270
HP:0000078	Abnormality of the genital system	259232	NALCN	OMIM:615419
HP:0000078	Abnormality of the genital system	259232	NALCN	ORPHA:2053
HP:0000078	Abnormality of the genital system	79576	NKAP	OMIM:301039
HP:0000078	Abnormality of the genital system	2313	FLI1	ORPHA:2308
HP:0000078	Abnormality of the genital system	157680	VPS13B	ORPHA:193
HP:0000078	Abnormality of the genital system	55617	TASP1	OMIM:618950
HP:0000078	Abnormality of the genital system	28957	MRPS28	OMIM:618958
HP:0000078	Abnormality of the genital system	1748	DLX4	OMIM:616788
HP:0000078	Abnormality of the genital system	23389	MED13L	OMIM:616789
HP:0000078	Abnormality of the genital system	23389	MED13L	ORPHA:369891
HP:0000078	Abnormality of the genital system	246329	STAC3	OMIM:255995
HP:0000078	Abnormality of the genital system	246329	STAC3	ORPHA:168572
HP:0000078	Abnormality of the genital system	7528	YY1	ORPHA:506358
HP:0000078	Abnormality of the genital system	7528	YY1	OMIM:617557
HP:0000078	Abnormality of the genital system	23141	ANKLE2	OMIM:616681
HP:0000078	Abnormality of the genital system	3008	H1-4	OMIM:617537
HP:0000078	Abnormality of the genital system	64220	STRA6	OMIM:601186
HP:0000078	Abnormality of the genital system	64220	STRA6	ORPHA:2470
HP:0000078	Abnormality of the genital system	51111	KMT5B	OMIM:617788
HP:0000078	Abnormality of the genital system	129563	DIS3L2	ORPHA:2849
HP:0000078	Abnormality of the genital system	129563	DIS3L2	OMIM:267000
HP:0000078	Abnormality of the genital system	55870	ASH1L	OMIM:617796
HP:0000078	Abnormality of the genital system	1183	CLCN4	ORPHA:485350
HP:0000078	Abnormality of the genital system	64359	NXN	ORPHA:1507
HP:0000078	Abnormality of the genital system	93627	TBCK	ORPHA:488632
HP:0000078	Abnormality of the genital system	1182	CLCN3	OMIM:619512
HP:0000078	Abnormality of the genital system	5792	PTPRF	OMIM:616001
HP:0000078	Abnormality of the genital system	145258	GSC	OMIM:602471
HP:0000078	Abnormality of the genital system	2312	FLG	ORPHA:461
HP:0000078	Abnormality of the genital system	9993	DGCR2	OMIM:192430
HP:0000078	Abnormality of the genital system	8220	ESS2	OMIM:192430
HP:0000078	Abnormality of the genital system	8214	DGCR6	OMIM:192430
HP:0000078	Abnormality of the genital system	54487	DGCR8	OMIM:192430
HP:0000078	Abnormality of the genital system	5286	PIK3C2A	OMIM:618440
HP:0000078	Abnormality of the genital system	404672	GTF2H5	ORPHA:33364
HP:0000078	Abnormality of the genital system	6897	TARS1	ORPHA:33364
HP:0000078	Abnormality of the genital system	2961	GTF2E2	ORPHA:33364
HP:0000078	Abnormality of the genital system	6878	TAF6	OMIM:617126
HP:0000078	Abnormality of the genital system	5076	PAX2	ORPHA:97362
HP:0000078	Abnormality of the genital system	9759	HDAC4	OMIM:619797
HP:0000078	Abnormality of the genital system	6885	MAP3K7	OMIM:617137
HP:0000078	Abnormality of the genital system	26275	HIBCH	ORPHA:88639
HP:0000078	Abnormality of the genital system	2710	GK	OMIM:307030
HP:0000078	Abnormality of the genital system	84892	POMGNT2	ORPHA:899
HP:0000078	Abnormality of the genital system	148789	B3GALNT2	ORPHA:899
HP:0000078	Abnormality of the genital system	1282	COL4A1	ORPHA:899
HP:0000078	Abnormality of the genital system	729920	CRPPA	ORPHA:899
HP:0000078	Abnormality of the genital system	10329	RXYLT1	ORPHA:899
HP:0000078	Abnormality of the genital system	1605	DAG1	ORPHA:899
HP:0000078	Abnormality of the genital system	84197	POMK	ORPHA:899
HP:0000078	Abnormality of the genital system	79068	FTO	OMIM:612938
HP:0000078	Abnormality of the genital system	10082	GPC6	OMIM:258315
HP:0000078	Abnormality of the genital system	10082	GPC6	ORPHA:93329
HP:0000078	Abnormality of the genital system	3265	HRAS	ORPHA:3071
HP:0000078	Abnormality of the genital system	3265	HRAS	ORPHA:2874
HP:0000078	Abnormality of the genital system	1822	ATN1	OMIM:618494
HP:0000078	Abnormality of the genital system	29895	MYL11	OMIM:619110
HP:0000078	Abnormality of the genital system	1836	SLC26A2	ORPHA:628
HP:0000078	Abnormality of the genital system	90416	CCDC32	OMIM:619123
HP:0000078	Abnormality of the genital system	57020	VPS35L	OMIM:619135
HP:0000078	Abnormality of the genital system	1984	EIF5A	OMIM:619376
HP:0000078	Abnormality of the genital system	2733	GLE1	OMIM:611890
HP:0000078	Abnormality of the genital system	59	ACTA2	OMIM:613834
HP:0000078	Abnormality of the genital system	221692	PHACTR1	OMIM:618298
HP:0000078	Abnormality of the genital system	5605	MAP2K2	ORPHA:638
HP:0000078	Abnormality of the genital system	5605	MAP2K2	ORPHA:1340
HP:0000078	Abnormality of the genital system	9325	TRIP4	ORPHA:486815
HP:0000078	Abnormality of the genital system	83483	PLVAP	OMIM:618183
HP:0000078	Abnormality of the genital system	83700	JAM3	OMIM:613730
HP:0000078	Abnormality of the genital system	2904	GRIN2B	OMIM:613970
HP:0000078	Abnormality of the genital system	8854	ALDH1A2	OMIM:620025
HP:0000078	Abnormality of the genital system	3636	INPPL1	ORPHA:3144
HP:0000078	Abnormality of the genital system	23169	SLC35D1	ORPHA:3144
HP:0000078	Abnormality of the genital system	8496	PPFIBP1	OMIM:620024
HP:0000078	Abnormality of the genital system	26053	AUTS2	ORPHA:352490
HP:0000078	Abnormality of the genital system	5826	ABCD4	OMIM:614857
HP:0000078	Abnormality of the genital system	4953	ODC1	OMIM:619075
HP:0000078	Abnormality of the genital system	5594	MAPK1	OMIM:619087
HP:0000078	Abnormality of the genital system	25802	LMOD1	ORPHA:2241
HP:0000078	Abnormality of the genital system	4629	MYH11	ORPHA:2241
HP:0000078	Abnormality of the genital system	72	ACTG2	ORPHA:2241
HP:0000078	Abnormality of the genital system	4638	MYLK	ORPHA:2241
HP:0000078	Abnormality of the genital system	5832	ALDH18A1	OMIM:219150
HP:0000078	Abnormality of the genital system	84919	PPP1R15B	OMIM:616817
HP:0000078	Abnormality of the genital system	51244	CCDC174	OMIM:616816
HP:0000078	Abnormality of the genital system	5915	RARB	ORPHA:2470
HP:0000078	Abnormality of the genital system	5915	RARB	OMIM:615524
HP:0000078	Abnormality of the genital system	254065	BRWD3	OMIM:300659
HP:0000078	Abnormality of the genital system	2200	FBN1	ORPHA:2462
HP:0000078	Abnormality of the genital system	274	BIN1	ORPHA:169189
HP:0000078	Abnormality of the genital system	64419	MTMR14	ORPHA:169189
HP:0000078	Abnormality of the genital system	4618	MYF6	ORPHA:169189
HP:0000078	Abnormality of the genital system	1785	DNM2	ORPHA:169189
HP:0000078	Abnormality of the genital system	2702	GJA5	ORPHA:3303
HP:0000078	Abnormality of the genital system	1482	NKX2-5	ORPHA:3303
HP:0000078	Abnormality of the genital system	137814	NKX2-6	ORPHA:3303
HP:0000078	Abnormality of the genital system	3791	KDR	ORPHA:3303
HP:0000078	Abnormality of the genital system	2627	GATA6	ORPHA:3303
HP:0000078	Abnormality of the genital system	2657	GDF1	ORPHA:3303
HP:0000078	Abnormality of the genital system	182	JAG1	ORPHA:3303
HP:0000078	Abnormality of the genital system	140628	GATA5	ORPHA:3303
HP:0000078	Abnormality of the genital system	10370	CITED2	ORPHA:3303
HP:0000078	Abnormality of the genital system	5831	PYCR1	OMIM:614438
HP:0000078	Abnormality of the genital system	4297	KMT2A	OMIM:605130
HP:0000078	Abnormality of the genital system	2592	GALT	ORPHA:79239
HP:0000078	Abnormality of the genital system	10265	IRX5	OMIM:611174
HP:0000078	Abnormality of the genital system	64093	SMOC1	ORPHA:1106
HP:0000078	Abnormality of the genital system	7074	TIAM1	OMIM:619908
HP:0000078	Abnormality of the genital system	8905	AP1S2	ORPHA:1568
HP:0000078	Abnormality of the genital system	8241	RBM10	ORPHA:2886
HP:0000078	Abnormality of the genital system	5455	POU3F3	OMIM:618604
HP:0000078	Abnormality of the genital system	3251	HPRT1	OMIM:300322
HP:0000078	Abnormality of the genital system	56159	TEX11	OMIM:309120
HP:0000078	Abnormality of the genital system	7374	UNG	OMIM:608106
HP:0000078	Abnormality of the genital system	5696	PSMB8	OMIM:256040
HP:0000078	Abnormality of the genital system	3514	IGKC	ORPHA:183675
HP:0000078	Abnormality of the genital system	3501	IGHG2	ORPHA:183675
HP:0000078	Abnormality of the genital system	6309	SC5D	OMIM:607330
HP:0000078	Abnormality of the genital system	54345	SOX18	OMIM:137940
HP:0000078	Abnormality of the genital system	54345	SOX18	ORPHA:69735
HP:0000078	Abnormality of the genital system	54345	SOX18	OMIM:607823
HP:0000078	Abnormality of the genital system	1802	DPH2	OMIM:620062
HP:0000078	Abnormality of the genital system	9780	PIEZO1	OMIM:616843
HP:0000078	Abnormality of the genital system	2324	FLT4	OMIM:153100
HP:0000078	Abnormality of the genital system	2324	FLT4	ORPHA:79452
HP:0000078	Abnormality of the genital system	285	ANGPT2	OMIM:619369
HP:0000078	Abnormality of the genital system	9508	ADAMTS3	OMIM:618154
HP:0000078	Abnormality of the genital system	9739	SETD1A	OMIM:618832
HP:0000078	Abnormality of the genital system	57165	GJC2	ORPHA:79452
HP:0000078	Abnormality of the genital system	2122	MECOM	OMIM:616738
HP:0000078	Abnormality of the genital system	80267	EDEM3	OMIM:619493
HP:0000078	Abnormality of the genital system	9487	PIGL	OMIM:280000
HP:0000078	Abnormality of the genital system	2146	EZH2	OMIM:277590
HP:0000078	Abnormality of the genital system	55901	THSD1	OMIM:620244
HP:0000078	Abnormality of the genital system	29969	MDFIC	OMIM:620014
HP:0000078	Abnormality of the genital system	7424	VEGFC	OMIM:615907
HP:0000078	Abnormality of the genital system	472	ATM	ORPHA:100
HP:0000078	Abnormality of the genital system	80169	CTC1	ORPHA:1775
HP:0000078	Abnormality of the genital system	26277	TINF2	ORPHA:1775
HP:0000078	Abnormality of the genital system	55651	NHP2	ORPHA:1775
HP:0000078	Abnormality of the genital system	79650	USB1	ORPHA:1775
HP:0000078	Abnormality of the genital system	55135	WRAP53	ORPHA:1775
HP:0000078	Abnormality of the genital system	51750	RTEL1	ORPHA:1775
HP:0000078	Abnormality of the genital system	4869	NPM1	ORPHA:1775
HP:0000078	Abnormality of the genital system	7012	TERC	ORPHA:1775
HP:0000078	Abnormality of the genital system	55505	NOP10	ORPHA:1775
HP:0000078	Abnormality of the genital system	5073	PARN	ORPHA:1775
HP:0000078	Abnormality of the genital system	7298	TYMS	ORPHA:1775
HP:0000078	Abnormality of the genital system	2697	GJA1	ORPHA:317
HP:0000078	Abnormality of the genital system	2707	GJB3	ORPHA:317
HP:0000078	Abnormality of the genital system	2531	KDSR	ORPHA:317
HP:0000078	Abnormality of the genital system	127534	GJB4	ORPHA:317
HP:0000078	Abnormality of the genital system	10483	SEC23B	ORPHA:201
HP:0000078	Abnormality of the genital system	6390	SDHB	ORPHA:201
HP:0000078	Abnormality of the genital system	6392	SDHD	ORPHA:201
HP:0000078	Abnormality of the genital system	6391	SDHC	ORPHA:201
HP:0000078	Abnormality of the genital system	205717	USF3	ORPHA:201
HP:0000078	Abnormality of the genital system	100144748	KLLN	ORPHA:201
HP:0000078	Abnormality of the genital system	54361	WNT4	ORPHA:139466
HP:0000078	Abnormality of the genital system	63895	PIEZO2	ORPHA:2461
HP:0000078	Abnormality of the genital system	55733	HHAT	ORPHA:1422
HP:0000078	Abnormality of the genital system	55733	HHAT	OMIM:600092
HP:0000078	Abnormality of the genital system	268	AMH	ORPHA:2856
HP:0000078	Abnormality of the genital system	269	AMHR2	ORPHA:2856
HP:0000078	Abnormality of the genital system	1583	CYP11A1	ORPHA:168558
HP:0000078	Abnormality of the genital system	1583	CYP11A1	ORPHA:289548
HP:0000078	Abnormality of the genital system	5567	PRKACB	ORPHA:289
HP:0000078	Abnormality of the genital system	2735	GLI1	ORPHA:289
HP:0000078	Abnormality of the genital system	2121	EVC	ORPHA:289
HP:0000078	Abnormality of the genital system	2121	EVC	OMIM:225500
HP:0000078	Abnormality of the genital system	51626	DYNC2LI1	ORPHA:289
HP:0000078	Abnormality of the genital system	132884	EVC2	ORPHA:289
HP:0000078	Abnormality of the genital system	132884	EVC2	OMIM:225500
HP:0000078	Abnormality of the genital system	29123	ANKRD11	OMIM:148050
HP:0000078	Abnormality of the genital system	26005	C2CD3	ORPHA:434179
HP:0000078	Abnormality of the genital system	26005	C2CD3	OMIM:615948
HP:0000078	Abnormality of the genital system	3670	ISL1	ORPHA:93930
HP:0000078	Abnormality of the genital system	157570	ESCO2	OMIM:268300
HP:0000078	Abnormality of the genital system	157570	ESCO2	ORPHA:3103
HP:0000078	Abnormality of the genital system	3756	KCNH1	OMIM:135500
HP:0000078	Abnormality of the genital system	3973	LHCGR	ORPHA:3000
HP:0000078	Abnormality of the genital system	5728	PTEN	ORPHA:744
HP:0000078	Abnormality of the genital system	23028	KDM1A	ORPHA:477993
HP:0000078	Abnormality of the genital system	23028	KDM1A	OMIM:616728
HP:0000078	Abnormality of the genital system	7750	ZMYM2	OMIM:619522
HP:0000078	Abnormality of the genital system	9578	CDC42BPB	OMIM:619841
HP:0000078	Abnormality of the genital system	1859	DYRK1A	ORPHA:268261
HP:0000078	Abnormality of the genital system	833	CARS1	OMIM:618891
HP:0000078	Abnormality of the genital system	4659	PPP1R12A	OMIM:618820
HP:0000078	Abnormality of the genital system	3209	HOXA13	OMIM:140000
HP:0000078	Abnormality of the genital system	1009	CDH11	ORPHA:1299
HP:0000078	Abnormality of the genital system	7473	WNT3	OMIM:273395
HP:0000078	Abnormality of the genital system	81848	SPRY4	ORPHA:432
HP:0000078	Abnormality of the genital system	81848	SPRY4	OMIM:615266
HP:0000078	Abnormality of the genital system	81848	SPRY4	OMIM:146110
HP:0000078	Abnormality of the genital system	81848	SPRY4	ORPHA:478
HP:0000078	Abnormality of the genital system	128674	PROKR2	ORPHA:432
HP:0000078	Abnormality of the genital system	128674	PROKR2	OMIM:244200
HP:0000078	Abnormality of the genital system	128674	PROKR2	ORPHA:478
HP:0000078	Abnormality of the genital system	60675	PROK2	ORPHA:432
HP:0000078	Abnormality of the genital system	60675	PROK2	OMIM:610628
HP:0000078	Abnormality of the genital system	60675	PROK2	ORPHA:478
HP:0000078	Abnormality of the genital system	6870	TACR3	ORPHA:432
HP:0000078	Abnormality of the genital system	6870	TACR3	OMIM:614840
HP:0000078	Abnormality of the genital system	6870	TACR3	ORPHA:478
HP:0000078	Abnormality of the genital system	1848	DUSP6	ORPHA:432
HP:0000078	Abnormality of the genital system	1848	DUSP6	OMIM:615269
HP:0000078	Abnormality of the genital system	1848	DUSP6	OMIM:146110
HP:0000078	Abnormality of the genital system	1848	DUSP6	ORPHA:478
HP:0000078	Abnormality of the genital system	26012	NSMF	ORPHA:432
HP:0000078	Abnormality of the genital system	26012	NSMF	OMIM:614838
HP:0000078	Abnormality of the genital system	55717	WDR11	ORPHA:432
HP:0000078	Abnormality of the genital system	55717	WDR11	OMIM:146110
HP:0000078	Abnormality of the genital system	55717	WDR11	OMIM:614858
HP:0000078	Abnormality of the genital system	55717	WDR11	ORPHA:478
HP:0000078	Abnormality of the genital system	9394	HS6ST1	ORPHA:432
HP:0000078	Abnormality of the genital system	9394	HS6ST1	ORPHA:478
HP:0000078	Abnormality of the genital system	2796	GNRH1	ORPHA:432
HP:0000078	Abnormality of the genital system	2796	GNRH1	OMIM:614841
HP:0000078	Abnormality of the genital system	2796	GNRH1	OMIM:146110
HP:0000078	Abnormality of the genital system	2798	GNRHR	ORPHA:432
HP:0000078	Abnormality of the genital system	2798	GNRHR	OMIM:146110
HP:0000078	Abnormality of the genital system	84634	KISS1R	ORPHA:432
HP:0000078	Abnormality of the genital system	84634	KISS1R	OMIM:614837
HP:0000078	Abnormality of the genital system	6866	TAC3	ORPHA:432
HP:0000078	Abnormality of the genital system	6866	TAC3	OMIM:614839
HP:0000078	Abnormality of the genital system	8822	FGF17	ORPHA:432
HP:0000078	Abnormality of the genital system	8822	FGF17	OMIM:146110
HP:0000078	Abnormality of the genital system	8822	FGF17	ORPHA:478
HP:0000078	Abnormality of the genital system	3814	KISS1	ORPHA:432
HP:0000078	Abnormality of the genital system	3814	KISS1	OMIM:614842
HP:0000078	Abnormality of the genital system	10126	DNAL4	ORPHA:238722
HP:0000078	Abnormality of the genital system	9423	NTN1	ORPHA:238722
HP:0000078	Abnormality of the genital system	1630	DCC	ORPHA:238722
HP:0000078	Abnormality of the genital system	1630	DCC	ORPHA:478
HP:0000078	Abnormality of the genital system	4558	MT-TF	ORPHA:550
HP:0000078	Abnormality of the genital system	4572	MT-TQ	ORPHA:550
HP:0000078	Abnormality of the genital system	4512	MT-CO1	ORPHA:550
HP:0000078	Abnormality of the genital system	4513	MT-CO2	ORPHA:550
HP:0000078	Abnormality of the genital system	4514	MT-CO3	ORPHA:550
HP:0000078	Abnormality of the genital system	4578	MT-TW	ORPHA:550
HP:0000078	Abnormality of the genital system	4540	MT-ND5	ORPHA:550
HP:0000078	Abnormality of the genital system	4541	MT-ND6	ORPHA:550
HP:0000078	Abnormality of the genital system	4535	MT-ND1	ORPHA:550
HP:0000078	Abnormality of the genital system	4538	MT-ND4	ORPHA:550
HP:0000078	Abnormality of the genital system	4567	MT-TL1	ORPHA:550
HP:0000078	Abnormality of the genital system	4574	MT-TS1	ORPHA:550
HP:0000078	Abnormality of the genital system	4575	MT-TS2	ORPHA:550
HP:0000078	Abnormality of the genital system	4564	MT-TH	ORPHA:550
HP:0000078	Abnormality of the genital system	55703	POLR3B	OMIM:614381
HP:0000078	Abnormality of the genital system	55703	POLR3B	OMIM:607694
HP:0000078	Abnormality of the genital system	51728	POLR3K	OMIM:619310
HP:0000078	Abnormality of the genital system	6938	TCF12	OMIM:619718
HP:0000078	Abnormality of the genital system	100151683	RNU4ATAC	ORPHA:353298
HP:0000078	Abnormality of the genital system	148738	HJV	OMIM:602390
HP:0000078	Abnormality of the genital system	9150	CTDP1	OMIM:604168
HP:0000078	Abnormality of the genital system	9150	CTDP1	ORPHA:48431
HP:0000078	Abnormality of the genital system	2488	FSHB	ORPHA:52901
HP:0000078	Abnormality of the genital system	1363	CPE	OMIM:619326
HP:0000078	Abnormality of the genital system	54476	RNF216	OMIM:212840
HP:0000078	Abnormality of the genital system	54476	RNF216	ORPHA:1173
HP:0000078	Abnormality of the genital system	10908	PNPLA6	OMIM:275400
HP:0000078	Abnormality of the genital system	10908	PNPLA6	ORPHA:1180
HP:0000078	Abnormality of the genital system	10908	PNPLA6	ORPHA:1173
HP:0000078	Abnormality of the genital system	10908	PNPLA6	OMIM:215470
HP:0000078	Abnormality of the genital system	5428	POLG	ORPHA:298
HP:0000078	Abnormality of the genital system	1890	TYMP	ORPHA:298
HP:0000078	Abnormality of the genital system	3980	LIG3	ORPHA:298
HP:0000078	Abnormality of the genital system	50484	RRM2B	ORPHA:298
HP:0000078	Abnormality of the genital system	5980	REV3L	ORPHA:570
HP:0000078	Abnormality of the genital system	23129	PLXND1	ORPHA:570
HP:0000078	Abnormality of the genital system	55366	LGR4	OMIM:619613
HP:0000078	Abnormality of the genital system	83550	GPR101	ORPHA:963
HP:0000078	Abnormality of the genital system	5422	POLA1	OMIM:301030
HP:0000078	Abnormality of the genital system	23312	DMXL2	OMIM:616113
HP:0000078	Abnormality of the genital system	23312	DMXL2	ORPHA:453533
HP:0000078	Abnormality of the genital system	558	AXL	OMIM:146110
HP:0000078	Abnormality of the genital system	10011	SRA1	OMIM:146110
HP:0000078	Abnormality of the genital system	285025	CCDC141	OMIM:146110
HP:0000078	Abnormality of the genital system	285025	CCDC141	ORPHA:478
HP:0000078	Abnormality of the genital system	389549	FEZF1	OMIM:146110
HP:0000078	Abnormality of the genital system	389549	FEZF1	ORPHA:478
HP:0000078	Abnormality of the genital system	4990	SIX6	OMIM:206900
HP:0000078	Abnormality of the genital system	6657	SOX2	OMIM:206900
HP:0000078	Abnormality of the genital system	3077	HFE	OMIM:235200
HP:0000078	Abnormality of the genital system	3077	HFE	ORPHA:465508
HP:0000078	Abnormality of the genital system	650	BMP2	OMIM:235200
HP:0000078	Abnormality of the genital system	55131	RBM28	ORPHA:157954
HP:0000078	Abnormality of the genital system	55131	RBM28	OMIM:612079
HP:0000078	Abnormality of the genital system	5626	PROP1	ORPHA:226307
HP:0000078	Abnormality of the genital system	5626	PROP1	ORPHA:95494
HP:0000078	Abnormality of the genital system	5626	PROP1	ORPHA:90695
HP:0000078	Abnormality of the genital system	89884	LHX4	ORPHA:226307
HP:0000078	Abnormality of the genital system	89884	LHX4	ORPHA:95494
HP:0000078	Abnormality of the genital system	8022	LHX3	ORPHA:226307
HP:0000078	Abnormality of the genital system	5449	POU1F1	ORPHA:226307
HP:0000078	Abnormality of the genital system	5449	POU1F1	ORPHA:95494
HP:0000078	Abnormality of the genital system	8820	HESX1	ORPHA:226307
HP:0000078	Abnormality of the genital system	8820	HESX1	ORPHA:95494
HP:0000078	Abnormality of the genital system	8820	HESX1	ORPHA:478
HP:0000078	Abnormality of the genital system	6804	STX1A	ORPHA:904
HP:0000078	Abnormality of the genital system	7461	CLIP2	ORPHA:904
HP:0000078	Abnormality of the genital system	84277	DNAJC30	ORPHA:904
HP:0000078	Abnormality of the genital system	8468	FKBP6	ORPHA:904
HP:0000078	Abnormality of the genital system	5982	RFC2	ORPHA:904
HP:0000078	Abnormality of the genital system	2969	GTF2I	ORPHA:904
HP:0000078	Abnormality of the genital system	3984	LIMK1	ORPHA:904
HP:0000078	Abnormality of the genital system	9569	GTF2IRD1	ORPHA:904
HP:0000078	Abnormality of the genital system	155382	VPS37D	ORPHA:904
HP:0000078	Abnormality of the genital system	155368	METTL27	ORPHA:904
HP:0000078	Abnormality of the genital system	114049	BUD23	ORPHA:904
HP:0000078	Abnormality of the genital system	7458	EIF4H	ORPHA:904
HP:0000078	Abnormality of the genital system	84163	GTF2IRD2	ORPHA:904
HP:0000078	Abnormality of the genital system	9275	BCL7B	ORPHA:904
HP:0000078	Abnormality of the genital system	26608	TBL2	ORPHA:904
HP:0000078	Abnormality of the genital system	653361	NCF1	ORPHA:904
HP:0000078	Abnormality of the genital system	135886	TMEM270	ORPHA:904
HP:0000078	Abnormality of the genital system	51085	MLXIPL	ORPHA:904
HP:0000078	Abnormality of the genital system	9031	BAZ1B	ORPHA:904
HP:0000078	Abnormality of the genital system	2006	ELN	ORPHA:904
HP:0000078	Abnormality of the genital system	8314	BAP1	ORPHA:2495
HP:0000078	Abnormality of the genital system	4771	NF2	ORPHA:2495
HP:0000078	Abnormality of the genital system	6598	SMARCB1	ORPHA:2495
HP:0000078	Abnormality of the genital system	5155	PDGFB	ORPHA:2495
HP:0000078	Abnormality of the genital system	84231	TRAF7	ORPHA:2495
HP:0000078	Abnormality of the genital system	6608	SMO	ORPHA:2495
HP:0000078	Abnormality of the genital system	207	AKT1	ORPHA:2495
HP:0000078	Abnormality of the genital system	5290	PIK3CA	ORPHA:2495
HP:0000078	Abnormality of the genital system	6605	SMARCE1	ORPHA:2495
HP:0000078	Abnormality of the genital system	286	ANK1	ORPHA:251066
HP:0000078	Abnormality of the genital system	7036	TFR2	OMIM:604250
HP:0000078	Abnormality of the genital system	11128	POLR3A	ORPHA:447896
HP:0000078	Abnormality of the genital system	11128	POLR3A	ORPHA:3455
HP:0000078	Abnormality of the genital system	11128	POLR3A	OMIM:607694
HP:0000078	Abnormality of the genital system	3170	FOXA2	ORPHA:95494
HP:0000078	Abnormality of the genital system	5015	OTX2	ORPHA:95494
HP:0000078	Abnormality of the genital system	3972	LHB	OMIM:228300
HP:0000078	Abnormality of the genital system	59336	PRDM13	OMIM:619761
HP:0000078	Abnormality of the genital system	81887	LAS1L	ORPHA:3459
HP:0000078	Abnormality of the genital system	5373	PMM2	ORPHA:79318
HP:0000078	Abnormality of the genital system	8643	PTCH2	ORPHA:377
HP:0000078	Abnormality of the genital system	2706	GJB2	ORPHA:494
HP:0000078	Abnormality of the genital system	5122	PCSK1	OMIM:600955
HP:0000078	Abnormality of the genital system	654	BMP6	ORPHA:465508
HP:0000078	Abnormality of the genital system	3730	ANOS1	OMIM:308700
HP:0000078	Abnormality of the genital system	3730	ANOS1	ORPHA:478
HP:0000078	Abnormality of the genital system	1761	DMRT1	ORPHA:242
HP:0000078	Abnormality of the genital system	84733	CBX2	ORPHA:242
HP:0000078	Abnormality of the genital system	50846	DHH	ORPHA:242
HP:0000078	Abnormality of the genital system	80067	DCAF17	OMIM:241080
HP:0000078	Abnormality of the genital system	10371	SEMA3A	ORPHA:478
HP:0000078	Abnormality of the genital system	23767	FLRT3	ORPHA:478
HP:0000078	Abnormality of the genital system	79625	NDNF	ORPHA:478
HP:0000078	Abnormality of the genital system	54756	IL17RD	ORPHA:478
HP:0000078	Abnormality of the genital system	6663	SOX10	ORPHA:478
HP:0000078	Abnormality of the genital system	5324	PLAG1	ORPHA:397590
HP:0000078	Abnormality of the genital system	8091	HMGA2	ORPHA:397590
HP:0000078	Abnormality of the genital system	10056	FARSB	OMIM:613658
HP:0000078	Abnormality of the genital system	84172	POLR1B	ORPHA:861
HP:0000078	Abnormality of the genital system	9533	POLR1C	ORPHA:861
HP:0000078	Abnormality of the genital system	51082	POLR1D	ORPHA:861
HP:0000078	Abnormality of the genital system	6949	TCOF1	ORPHA:861
HP:0000078	Abnormality of the genital system	4983	OPHN1	OMIM:300486
HP:0000078	Abnormality of the genital system	84162	BLTP1	OMIM:617822
HP:0000078	Abnormality of the genital system	4010	LMX1B	ORPHA:495818
HP:0000078	Abnormality of the genital system	6812	STXBP1	ORPHA:495818
HP:0000078	Abnormality of the genital system	10982	MAPRE2	OMIM:616734
HP:0000078	Abnormality of the genital system	10982	MAPRE2	ORPHA:2505
HP:0000078	Abnormality of the genital system	5818	NECTIN1	ORPHA:3253
HP:0000078	Abnormality of the genital system	2068	ERCC2	OMIM:610756
HP:0000078	Abnormality of the genital system	3703	STT3A	ORPHA:370921
HP:0000078	Abnormality of the genital system	9968	MED12	OMIM:300895
HP:0000078	Abnormality of the genital system	6261	RYR1	ORPHA:98905
HP:0000078	Abnormality of the genital system	7476	WNT7A	OMIM:276820
HP:0000078	Abnormality of the genital system	4621	MYH3	ORPHA:2990
HP:0000078	Abnormality of the genital system	1146	CHRNG	ORPHA:2990
HP:0000078	Abnormality of the genital system	84295	PHF6	ORPHA:127
HP:0000078	Abnormality of the genital system	79087	ALG12	OMIM:607143
HP:0000078	Abnormality of the genital system	6926	TBX3	OMIM:181450
HP:0000078	Abnormality of the genital system	652	BMP4	OMIM:607932
HP:0000078	Abnormality of the genital system	8295	TRRAP	OMIM:618454
HP:0000078	Abnormality of the genital system	372	ARCN1	OMIM:617164
HP:0000078	Abnormality of the genital system	60529	ALX4	ORPHA:228390
HP:0000078	Abnormality of the genital system	203068	TUBB	ORPHA:2505
HP:0000078	Abnormality of the genital system	26235	FBXL4	OMIM:615471
HP:0000078	Abnormality of the genital system	1947	EFNB1	ORPHA:1520
HP:0000078	Abnormality of the genital system	1947	EFNB1	OMIM:304110
HP:0000078	Abnormality of the genital system	9820	CUL7	ORPHA:2616
HP:0000078	Abnormality of the genital system	9820	CUL7	OMIM:273750
HP:0000078	Abnormality of the genital system	23363	OBSL1	ORPHA:2616
HP:0000078	Abnormality of the genital system	83987	CCDC8	ORPHA:2616
HP:0000078	Abnormality of the genital system	81857	MED25	OMIM:616449
HP:0000078	Abnormality of the genital system	81857	MED25	ORPHA:464738
HP:0000078	Abnormality of the genital system	1736	DKC1	OMIM:305000
HP:0000078	Abnormality of the genital system	267010	RNU12	OMIM:603116
HP:0000078	Abnormality of the genital system	5932	RBBP8	OMIM:606744
HP:0000078	Abnormality of the genital system	116931	MED12L	OMIM:618872
HP:0000078	Abnormality of the genital system	8239	USP9X	OMIM:300919
HP:0000078	Abnormality of the genital system	284058	KANSL1	ORPHA:363958
HP:0000078	Abnormality of the genital system	284058	KANSL1	ORPHA:363965
HP:0000078	Abnormality of the genital system	4853	NOTCH2	OMIM:102500
HP:0000078	Abnormality of the genital system	4853	NOTCH2	ORPHA:955
HP:0000078	Abnormality of the genital system	7020	TFAP2A	OMIM:113620
HP:0000078	Abnormality of the genital system	54968	TMEM70	OMIM:614052
HP:0000078	Abnormality of the genital system	54968	TMEM70	ORPHA:1194
HP:0000078	Abnormality of the genital system	57178	ZMIZ1	OMIM:618659
HP:0000078	Abnormality of the genital system	8642	DCHS1	OMIM:601390
HP:0000078	Abnormality of the genital system	8642	DCHS1	ORPHA:314679
HP:0000078	Abnormality of the genital system	2316	FLNA	ORPHA:90652
HP:0000078	Abnormality of the genital system	2316	FLNA	OMIM:304120
HP:0000078	Abnormality of the genital system	8260	NAA10	OMIM:309800
HP:0000078	Abnormality of the genital system	8260	NAA10	ORPHA:568
HP:0000078	Abnormality of the genital system	54914	FOCAD	OMIM:619991
HP:0000078	Abnormality of the genital system	8363	H4C11	OMIM:619759
HP:0000078	Abnormality of the genital system	6134	RPL10	ORPHA:459070
HP:0000078	Abnormality of the genital system	6134	RPL10	OMIM:300998
HP:0000078	Abnormality of the genital system	6134	RPL10	ORPHA:435938
HP:0000078	Abnormality of the genital system	9772	TMEM94	OMIM:618316
HP:0000078	Abnormality of the genital system	2239	GPC4	ORPHA:373
HP:0000078	Abnormality of the genital system	2239	GPC4	OMIM:312870
HP:0000078	Abnormality of the genital system	2719	GPC3	ORPHA:373
HP:0000078	Abnormality of the genital system	2719	GPC3	OMIM:312870
HP:0000078	Abnormality of the genital system	9725	TMEM63A	OMIM:618688
HP:0000078	Abnormality of the genital system	6135	RPL11	ORPHA:124
HP:0000078	Abnormality of the genital system	6138	RPL15	ORPHA:124
HP:0000078	Abnormality of the genital system	6229	RPS24	ORPHA:124
HP:0000078	Abnormality of the genital system	6125	RPL5	ORPHA:124
HP:0000078	Abnormality of the genital system	6204	RPS10	ORPHA:124
HP:0000078	Abnormality of the genital system	6224	RPS20	ORPHA:124
HP:0000078	Abnormality of the genital system	6165	RPL35A	ORPHA:124
HP:0000078	Abnormality of the genital system	6165	RPL35A	OMIM:612528
HP:0000078	Abnormality of the genital system	2623	GATA1	ORPHA:124
HP:0000078	Abnormality of the genital system	6223	RPS19	ORPHA:124
HP:0000078	Abnormality of the genital system	6232	RPS27	ORPHA:124
HP:0000078	Abnormality of the genital system	6231	RPS26	ORPHA:124
HP:0000078	Abnormality of the genital system	11224	RPL35	ORPHA:124
HP:0000078	Abnormality of the genital system	6160	RPL31	ORPHA:124
HP:0000078	Abnormality of the genital system	6218	RPS17	ORPHA:124
HP:0000078	Abnormality of the genital system	6201	RPS7	ORPHA:124
HP:0000078	Abnormality of the genital system	6155	RPL27	ORPHA:124
HP:0000078	Abnormality of the genital system	6154	RPL26	ORPHA:124
HP:0000078	Abnormality of the genital system	6210	RPS15A	ORPHA:124
HP:0000078	Abnormality of the genital system	90121	TSR2	ORPHA:124
HP:0000078	Abnormality of the genital system	6141	RPL18	ORPHA:124
HP:0000078	Abnormality of the genital system	6235	RPS29	ORPHA:124
HP:0000078	Abnormality of the genital system	6234	RPS28	ORPHA:124
HP:0000078	Abnormality of the genital system	51816	ADA2	ORPHA:124
HP:0000078	Abnormality of the genital system	1523	CUX1	OMIM:618330
HP:0000078	Abnormality of the genital system	22827	PUF60	ORPHA:508498
HP:0000078	Abnormality of the genital system	6477	SIAH1	OMIM:619314
HP:0000078	Abnormality of the genital system	8473	OGT	OMIM:300997
HP:0000078	Abnormality of the genital system	10765	KDM5B	OMIM:618109
HP:0000078	Abnormality of the genital system	5308	PITX2	ORPHA:782
HP:0000078	Abnormality of the genital system	5308	PITX2	OMIM:180500
HP:0000078	Abnormality of the genital system	2296	FOXC1	ORPHA:782
HP:0000078	Abnormality of the genital system	27125	AFF4	ORPHA:444077
HP:0000078	Abnormality of the genital system	1387	CREBBP	ORPHA:353281
HP:0000078	Abnormality of the genital system	1387	CREBBP	OMIM:180849
HP:0000078	Abnormality of the genital system	1387	CREBBP	ORPHA:353277
HP:0000078	Abnormality of the genital system	29998	BICRA	OMIM:619325
HP:0000078	Abnormality of the genital system	2033	EP300	ORPHA:353284
HP:0000078	Abnormality of the genital system	2033	EP300	OMIM:180849
HP:0000078	Abnormality of the genital system	3039	HBA1	ORPHA:98791
HP:0000078	Abnormality of the genital system	3040	HBA2	ORPHA:98791
HP:0000078	Abnormality of the genital system	50945	TBX22	OMIM:302905
HP:0000078	Abnormality of the genital system	50945	TBX22	ORPHA:921
HP:0000078	Abnormality of the genital system	1312	COMT	ORPHA:567
HP:0000078	Abnormality of the genital system	221037	JMJD1C	ORPHA:567
HP:0000078	Abnormality of the genital system	2812	GP1BB	ORPHA:567
HP:0000078	Abnormality of the genital system	6239	RREB1	ORPHA:567
HP:0000078	Abnormality of the genital system	6899	TBX1	ORPHA:567
HP:0000078	Abnormality of the genital system	7290	HIRA	ORPHA:567
HP:0000078	Abnormality of the genital system	9632	SEC24C	ORPHA:567
HP:0000078	Abnormality of the genital system	7353	UFD1	ORPHA:567
HP:0000078	Abnormality of the genital system	421	ARVCF	ORPHA:567
HP:0000078	Abnormality of the genital system	25942	SIN3A	ORPHA:94065
HP:0000078	Abnormality of the genital system	25942	SIN3A	OMIM:613406
HP:0000078	Abnormality of the genital system	10524	KAT5	OMIM:619103
HP:0000078	Abnormality of the genital system	8802	SUCLG1	ORPHA:17
HP:0000078	Abnormality of the genital system	4700	NDUFA6	OMIM:618253
HP:0000078	Abnormality of the genital system	2475	MTOR	ORPHA:457485
HP:0000078	Abnormality of the genital system	6611	SMS	ORPHA:3063
HP:0000078	Abnormality of the genital system	54809	SAMD9	OMIM:617053
HP:0000078	Abnormality of the genital system	2887	GRB10	ORPHA:96182
HP:0000078	Abnormality of the genital system	51360	MBTPS2	OMIM:308205
HP:0000078	Abnormality of the genital system	2222	FDFT1	OMIM:618156
HP:0000078	Abnormality of the genital system	22995	CEP152	OMIM:613823
HP:0000078	Abnormality of the genital system	10084	PQBP1	OMIM:309500
HP:0000078	Abnormality of the genital system	6748	SSR4	OMIM:300934
HP:0000078	Abnormality of the genital system	219844	HYLS1	OMIM:236680
HP:0000078	Abnormality of the genital system	9897	WASHC5	ORPHA:7
HP:0000078	Abnormality of the genital system	9897	WASHC5	OMIM:220210
HP:0000078	Abnormality of the genital system	28952	CCDC22	ORPHA:7
HP:0000078	Abnormality of the genital system	55181	SMG8	OMIM:619268
HP:0000078	Abnormality of the genital system	3735	KARS1	OMIM:619147
HP:0000078	Abnormality of the genital system	4713	NDUFB7	OMIM:620135
HP:0000078	Abnormality of the genital system	4702	NDUFA8	OMIM:619272
HP:0000078	Abnormality of the genital system	10128	LRPPRC	OMIM:220111
HP:0000078	Abnormality of the genital system	2294	FOXF1	OMIM:265380
HP:0000078	Abnormality of the genital system	23556	PIGN	ORPHA:2059
HP:0000078	Abnormality of the genital system	55780	ERMARD	ORPHA:75857
HP:0000078	Abnormality of the genital system	9382	COG1	OMIM:611209
HP:0000078	Abnormality of the genital system	1136	CHRNA3	OMIM:191800
HP:0000078	Abnormality of the genital system	7080	NKX2-1	ORPHA:209905
HP:0000078	Abnormality of the genital system	222663	SCUBE3	OMIM:619184
HP:0000078	Abnormality of the genital system	83879	CDCA7	OMIM:616910
HP:0000078	Abnormality of the genital system	53834	FGFRL1	OMIM:194190
HP:0000078	Abnormality of the genital system	5828	PEX2	OMIM:614866
HP:0000078	Abnormality of the genital system	5828	PEX2	ORPHA:912
HP:0000078	Abnormality of the genital system	57459	GATAD2B	ORPHA:363686
HP:0000078	Abnormality of the genital system	78989	COLEC11	OMIM:265050
HP:0000078	Abnormality of the genital system	9652	SKIC3	OMIM:222470
HP:0000078	Abnormality of the genital system	5631	PRPS1	OMIM:300661
HP:0000078	Abnormality of the genital system	123016	TTC8	OMIM:615985
HP:0000078	Abnormality of the genital system	55670	PEX26	ORPHA:912
HP:0000078	Abnormality of the genital system	5824	PEX19	ORPHA:912
HP:0000078	Abnormality of the genital system	8504	PEX3	ORPHA:912
HP:0000078	Abnormality of the genital system	8799	PEX11B	ORPHA:912
HP:0000078	Abnormality of the genital system	9409	PEX16	ORPHA:912
HP:0000078	Abnormality of the genital system	5830	PEX5	ORPHA:912
HP:0000078	Abnormality of the genital system	5193	PEX12	ORPHA:912
HP:0000078	Abnormality of the genital system	5194	PEX13	ORPHA:912
HP:0000078	Abnormality of the genital system	5195	PEX14	ORPHA:912
HP:0000078	Abnormality of the genital system	5192	PEX10	ORPHA:912
HP:0000078	Abnormality of the genital system	10159	ATP6AP2	OMIM:301045
HP:0000078	Abnormality of the genital system	10586	MAB21L2	OMIM:615877
HP:0000078	Abnormality of the genital system	55209	SETD5	OMIM:615761
HP:0000078	Abnormality of the genital system	998	CDC42	OMIM:616737
HP:0000078	Abnormality of the genital system	998	CDC42	ORPHA:487796
HP:0000078	Abnormality of the genital system	8831	SYNGAP1	ORPHA:544254
HP:0000078	Abnormality of the genital system	6597	SMARCA4	ORPHA:1465
HP:0000078	Abnormality of the genital system	6659	SOX4	ORPHA:1465
HP:0000078	Abnormality of the genital system	8289	ARID1A	ORPHA:1465
HP:0000078	Abnormality of the genital system	5977	DPF2	ORPHA:1465
HP:0000078	Abnormality of the genital system	6601	SMARCC2	ORPHA:1465
HP:0000078	Abnormality of the genital system	6602	SMARCD1	ORPHA:1465
HP:0000078	Abnormality of the genital system	196528	ARID2	ORPHA:1465
HP:0000078	Abnormality of the genital system	6664	SOX11	ORPHA:1465
HP:0000078	Abnormality of the genital system	134701	RIPPLY2	ORPHA:2311
HP:0000078	Abnormality of the genital system	10683	DLL3	ORPHA:2311
HP:0000078	Abnormality of the genital system	3955	LFNG	ORPHA:2311
HP:0000078	Abnormality of the genital system	84667	HES7	ORPHA:2311
HP:0000078	Abnormality of the genital system	145873	MESP2	ORPHA:2311
HP:0000078	Abnormality of the genital system	25	ABL1	OMIM:617602
HP:0000078	Abnormality of the genital system	545	ATR	OMIM:210600
HP:0000078	Abnormality of the genital system	5723	PSPH	ORPHA:79350
HP:0000078	Abnormality of the genital system	1589	CYP21A2	OMIM:201910
HP:0000078	Abnormality of the genital system	25914	RTTN	ORPHA:468631
HP:0000078	Abnormality of the genital system	4796	TONSL	ORPHA:93357
HP:0000078	Abnormality of the genital system	5879	RAC1	OMIM:617751
HP:0000078	Abnormality of the genital system	5879	RAC1	ORPHA:500159
HP:0000078	Abnormality of the genital system	51780	KDM3B	OMIM:618846
HP:0000078	Abnormality of the genital system	4724	NDUFS4	OMIM:252010
HP:0000078	Abnormality of the genital system	1468	SLC25A10	OMIM:618972
HP:0000078	Abnormality of the genital system	5604	MAP2K1	OMIM:163950
HP:0000078	Abnormality of the genital system	6299	SALL1	OMIM:107480
HP:0000078	Abnormality of the genital system	6299	SALL1	ORPHA:857
HP:0000078	Abnormality of the genital system	51339	DACT1	ORPHA:857
HP:0000078	Abnormality of the genital system	26128	KIFBP	ORPHA:66629
HP:0000078	Abnormality of the genital system	51733	UPB1	OMIM:613161
HP:0000078	Abnormality of the genital system	2245	FGD1	OMIM:305400
HP:0000078	Abnormality of the genital system	2245	FGD1	ORPHA:915
HP:0000078	Abnormality of the genital system	51651	PTRH2	OMIM:616263
HP:0000078	Abnormality of the genital system	51651	PTRH2	ORPHA:456312
HP:0000078	Abnormality of the genital system	3975	LHX1	ORPHA:261265
HP:0000078	Abnormality of the genital system	340533	NEXMIF	ORPHA:85277
HP:0000078	Abnormality of the genital system	54499	TMCO1	OMIM:213980
HP:0000078	Abnormality of the genital system	9496	TBX4	ORPHA:261279
HP:0000078	Abnormality of the genital system	23384	SPECC1L	OMIM:145420
HP:0000078	Abnormality of the genital system	23384	SPECC1L	ORPHA:1519
HP:0000078	Abnormality of the genital system	124512	METTL23	OMIM:615942
HP:0000078	Abnormality of the genital system	4000	LMNA	ORPHA:740
HP:0000078	Abnormality of the genital system	10269	ZMPSTE24	ORPHA:740
HP:0000078	Abnormality of the genital system	8087	FXR1	OMIM:618823
HP:0000078	Abnormality of the genital system	10274	STAG1	ORPHA:502434
HP:0000078	Abnormality of the genital system	2218	FKTN	OMIM:236670
HP:0000078	Abnormality of the genital system	131118	DNAJC19	ORPHA:66634
HP:0000078	Abnormality of the genital system	4204	MECP2	OMIM:300055
HP:0000078	Abnormality of the genital system	4204	MECP2	ORPHA:3077
HP:0000078	Abnormality of the genital system	27316	RBMX	OMIM:300238
HP:0000078	Abnormality of the genital system	8367	H4C5	OMIM:619950
HP:0000078	Abnormality of the genital system	4763	NF1	ORPHA:139474
HP:0000078	Abnormality of the genital system	2332	FMR1	ORPHA:908
HP:0000078	Abnormality of the genital system	11141	IL1RAPL1	OMIM:300143
HP:0000078	Abnormality of the genital system	1193	CLIC2	OMIM:300886
HP:0000078	Abnormality of the genital system	1193	CLIC2	ORPHA:324410
HP:0000078	Abnormality of the genital system	175	AGA	OMIM:208400
HP:0000078	Abnormality of the genital system	175	AGA	ORPHA:93
HP:0000078	Abnormality of the genital system	51114	ZDHHC9	ORPHA:776
HP:0000078	Abnormality of the genital system	65109	UPF3B	ORPHA:776
HP:0000078	Abnormality of the genital system	7252	TSHB	ORPHA:90674
HP:0000078	Abnormality of the genital system	8450	CUL4B	OMIM:300354
HP:0000078	Abnormality of the genital system	8294	H4C9	OMIM:619951
HP:0000078	Abnormality of the genital system	91801	ALKBH8	OMIM:618504
HP:0000078	Abnormality of the genital system	4281	MID1	OMIM:300000
HP:0000078	Abnormality of the genital system	374654	KIF7	OMIM:200990
HP:0000078	Abnormality of the genital system	58	ACTA1	ORPHA:171430
HP:0000078	Abnormality of the genital system	4703	NEB	ORPHA:171430
HP:0000078	Abnormality of the genital system	131377	KLHL40	ORPHA:171430
HP:0000078	Abnormality of the genital system	10324	KLHL41	ORPHA:171430
HP:0000078	Abnormality of the genital system	56203	LMOD3	ORPHA:171430
HP:0000078	Abnormality of the genital system	1723	DHODH	OMIM:263750
HP:0000078	Abnormality of the genital system	1841	DTYMK	OMIM:619847
HP:0000078	Abnormality of the genital system	79947	DHDDS	OMIM:613861
HP:0000078	Abnormality of the genital system	56623	INPP5E	ORPHA:75858
HP:0000078	Abnormality of the genital system	56623	INPP5E	OMIM:610156
HP:0000078	Abnormality of the genital system	1161	ERCC8	OMIM:216400
HP:0000078	Abnormality of the genital system	10584	COLEC10	OMIM:248340
HP:0000078	Abnormality of the genital system	1889	ECE1	OMIM:613870
HP:0000078	Abnormality of the genital system	3952	LEP	OMIM:614962
HP:0000078	Abnormality of the genital system	2688	GH1	OMIM:612781
HP:0000078	Abnormality of the genital system	815	CAMK2A	OMIM:617798
HP:0000078	Abnormality of the genital system	79140	CCDC28B	OMIM:209900
HP:0000078	Abnormality of the genital system	582	BBS1	OMIM:209900
HP:0000078	Abnormality of the genital system	23116	TOGARAM1	OMIM:619185
HP:0000078	Abnormality of the genital system	84823	LMNB2	OMIM:619180
HP:0000078	Abnormality of the genital system	283987	HID1	OMIM:619983
HP:0000078	Abnormality of the genital system	1656	DDX6	OMIM:618653
HP:0000078	Abnormality of the genital system	132158	GLYCTK	OMIM:220120
HP:0000078	Abnormality of the genital system	55148	UBR7	OMIM:619189
HP:0000078	Abnormality of the genital system	2783	GNB2	OMIM:619503
HP:0000078	Abnormality of the genital system	63901	FAM111A	OMIM:602361
HP:0000078	Abnormality of the genital system	253738	EBF3	OMIM:617330
HP:0000078	Abnormality of the genital system	6905	TBCE	OMIM:241410
HP:0000078	Abnormality of the genital system	8879	SGPL1	OMIM:617575
HP:0000078	Abnormality of the genital system	79718	TBL1XR1	OMIM:602342
HP:0000078	Abnormality of the genital system	5700	PSMC1	OMIM:620071
HP:0000078	Abnormality of the genital system	79228	THOC6	ORPHA:363444
HP:0000078	Abnormality of the genital system	11041	B4GAT1	OMIM:615287
HP:0000078	Abnormality of the genital system	5591	PRKDC	OMIM:615966
HP:0000078	Abnormality of the genital system	6925	TCF4	OMIM:610954
HP:0000078	Abnormality of the genital system	6925	TCF4	ORPHA:2896
HP:0000078	Abnormality of the genital system	3911	LAMA5	OMIM:620076
HP:0000078	Abnormality of the genital system	8242	KDM5C	OMIM:300534
HP:0000078	Abnormality of the genital system	10661	KLF1	OMIM:613673
HP:0000078	Abnormality of the genital system	7319	UBE2A	ORPHA:163956
HP:0000078	Abnormality of the genital system	7319	UBE2A	OMIM:300860
HP:0000078	Abnormality of the genital system	10535	RNASEH2A	ORPHA:51
HP:0000078	Abnormality of the genital system	84153	RNASEH2C	ORPHA:51
HP:0000078	Abnormality of the genital system	25939	SAMHD1	ORPHA:51
HP:0000078	Abnormality of the genital system	79621	RNASEH2B	ORPHA:51
HP:0000078	Abnormality of the genital system	103	ADAR	ORPHA:51
HP:0000078	Abnormality of the genital system	11277	TREX1	ORPHA:51
HP:0000078	Abnormality of the genital system	100147744	RNU7-1	ORPHA:51
HP:0000078	Abnormality of the genital system	100147744	RNU7-1	OMIM:619487
HP:0000078	Abnormality of the genital system	134353	LSM11	ORPHA:51
HP:0000078	Abnormality of the genital system	64135	IFIH1	ORPHA:51
HP:0000078	Abnormality of the genital system	6792	CDKL5	ORPHA:1934
HP:0000078	Abnormality of the genital system	3736	KCNA1	ORPHA:1934
HP:0000078	Abnormality of the genital system	9091	PIGQ	ORPHA:1934
HP:0000078	Abnormality of the genital system	2775	GNAO1	ORPHA:1934
HP:0000078	Abnormality of the genital system	81603	TRIM8	ORPHA:1934
HP:0000078	Abnormality of the genital system	2902	GRIN1	ORPHA:1934
HP:0000078	Abnormality of the genital system	79751	SLC25A22	ORPHA:1934
HP:0000078	Abnormality of the genital system	150094	SIK1	ORPHA:1934
HP:0000078	Abnormality of the genital system	8573	CASK	ORPHA:1934
HP:0000078	Abnormality of the genital system	2917	GRM7	ORPHA:1934
HP:0000078	Abnormality of the genital system	11284	PNKP	ORPHA:1934
HP:0000078	Abnormality of the genital system	6326	SCN2A	ORPHA:1934
HP:0000078	Abnormality of the genital system	51227	PIGP	ORPHA:1934
HP:0000078	Abnormality of the genital system	6324	SCN1B	ORPHA:1934
HP:0000078	Abnormality of the genital system	4761	NEUROD2	ORPHA:1934
HP:0000078	Abnormality of the genital system	10075	HUWE1	OMIM:309590
HP:0000078	Abnormality of the genital system	2074	ERCC6	OMIM:133540
HP:0000078	Abnormality of the genital system	10466	COG5	ORPHA:263487
HP:0000078	Abnormality of the genital system	56896	DPYSL5	OMIM:619435
HP:0000078	Abnormality of the genital system	54585	LZTFL1	OMIM:615994
HP:0000078	Abnormality of the genital system	55593	OTUD5	OMIM:301056
HP:0000078	Abnormality of the genital system	55315	SLC29A3	OMIM:602782
HP:0000078	Abnormality of the genital system	55315	SLC29A3	ORPHA:168569
HP:0000078	Abnormality of the genital system	113179	ADAT3	ORPHA:363528
HP:0000078	Abnormality of the genital system	8882	ZPR1	OMIM:619321
HP:0000078	Abnormality of the genital system	55784	MCTP2	ORPHA:1596
HP:0000078	Abnormality of the genital system	29925	GMPPB	ORPHA:370968
HP:0000078	Abnormality of the genital system	79147	FKRP	ORPHA:370968
HP:0000078	Abnormality of the genital system	29954	POMT2	ORPHA:370968
HP:0000078	Abnormality of the genital system	29954	POMT2	OMIM:613156
HP:0000078	Abnormality of the genital system	9215	LARGE1	ORPHA:370968
HP:0000078	Abnormality of the genital system	10585	POMT1	ORPHA:370968
HP:0000078	Abnormality of the genital system	55777	MBD5	OMIM:156200
HP:0000078	Abnormality of the genital system	8925	HERC1	ORPHA:457359
HP:0000078	Abnormality of the genital system	51132	RLIM	OMIM:300978
HP:0000078	Abnormality of the genital system	7874	USP7	OMIM:616863
HP:0000078	Abnormality of the genital system	7874	USP7	ORPHA:500055
HP:0000078	Abnormality of the genital system	1000	CDH2	OMIM:618929
HP:0000078	Abnormality of the genital system	80311	KLHL15	OMIM:300982
HP:0000078	Abnormality of the genital system	1641	DCX	OMIM:300067
HP:0000078	Abnormality of the genital system	7317	UBA1	OMIM:301830
HP:0000078	Abnormality of the genital system	5277	PIGA	OMIM:300868
HP:0000078	Abnormality of the genital system	55210	ATAD3A	OMIM:618810
HP:0000078	Abnormality of the genital system	79633	FAT4	OMIM:615546
HP:0000078	Abnormality of the genital system	57187	THOC2	ORPHA:457240
HP:0000078	Abnormality of the genital system	26160	IFT172	OMIM:619471
HP:0000078	Abnormality of the genital system	9851	KIAA0753	OMIM:619479
HP:0000078	Abnormality of the genital system	2892	GRIA3	ORPHA:364028
HP:0000078	Abnormality of the genital system	340419	RSPO2	OMIM:618021
HP:0000078	Abnormality of the genital system	7737	RNF113A	OMIM:300953
HP:0000078	Abnormality of the genital system	6711	SPTBN1	OMIM:619475
HP:0000078	Abnormality of the genital system	80036	TRPM3	OMIM:620224
HP:0000078	Abnormality of the genital system	2132	EXT2	ORPHA:52022
HP:0000078	Abnormality of the genital system	51317	PHF21A	ORPHA:52022
HP:0000078	Abnormality of the genital system	8567	MADD	OMIM:619004
HP:0000078	Abnormality of the genital system	8567	MADD	OMIM:619005
HP:0000078	Abnormality of the genital system	202018	TAPT1	OMIM:616897
HP:0000078	Abnormality of the genital system	4047	LSS	OMIM:618840
HP:0000078	Abnormality of the genital system	23247	KATNIP	OMIM:616784
HP:0000078	Abnormality of the genital system	7518	XRCC4	OMIM:616541
HP:0000078	Abnormality of the genital system	9786	KIAA0586	OMIM:616546
HP:0000078	Abnormality of the genital system	5718	PSMD12	OMIM:617516
HP:0000078	Abnormality of the genital system	523	ATP6V1A	OMIM:617403
HP:0000078	Abnormality of the genital system	529	ATP6V1E1	OMIM:617402
HP:0000078	Abnormality of the genital system	8085	KMT2D	OMIM:147920
HP:0000078	Abnormality of the genital system	7403	KDM6A	OMIM:147920
HP:0000078	Abnormality of the genital system	3981	LIG4	ORPHA:235
HP:0000078	Abnormality of the genital system	54888	NSUN2	ORPHA:235
HP:0000078	Abnormality of the genital system	5144	PDE4D	ORPHA:950
HP:0000078	Abnormality of the genital system	7852	CXCR4	OMIM:193670
HP:0000078	Abnormality of the genital system	5116	PCNT	ORPHA:2637
HP:0000078	Abnormality of the genital system	5590	PRKCZ	ORPHA:1606
HP:0000078	Abnormality of the genital system	2563	GABRD	ORPHA:1606
HP:0000078	Abnormality of the genital system	23013	SPEN	ORPHA:1606
HP:0000078	Abnormality of the genital system	8510	MMP23B	ORPHA:1606
HP:0000078	Abnormality of the genital system	7798	LUZP1	ORPHA:1606
HP:0000078	Abnormality of the genital system	6497	SKI	ORPHA:1606
HP:0000078	Abnormality of the genital system	10630	PDPN	ORPHA:1606
HP:0000078	Abnormality of the genital system	10277	UBE4B	ORPHA:1606
HP:0000078	Abnormality of the genital system	8514	KCNAB2	ORPHA:1606
HP:0000078	Abnormality of the genital system	473	RERE	ORPHA:1606
HP:0000078	Abnormality of the genital system	63976	PRDM16	ORPHA:1606
HP:0000078	Abnormality of the genital system	54897	CASZ1	ORPHA:1606
HP:0000078	Abnormality of the genital system	6888	TALDO1	ORPHA:101028
HP:0000078	Abnormality of the genital system	23476	BRD4	ORPHA:199
HP:0000078	Abnormality of the genital system	9126	SMC3	ORPHA:199
HP:0000078	Abnormality of the genital system	8243	SMC1A	ORPHA:199
HP:0000078	Abnormality of the genital system	25836	NIPBL	ORPHA:199
HP:0000078	Abnormality of the genital system	25836	NIPBL	OMIM:122470
HP:0000078	Abnormality of the genital system	55869	HDAC8	ORPHA:199
HP:0000078	Abnormality of the genital system	5885	RAD21	ORPHA:199
HP:0000078	Abnormality of the genital system	10664	CTCF	ORPHA:363611
HP:0000078	Abnormality of the genital system	2100	ESR2	OMIM:618187
HP:0000078	Abnormality of the genital system	29957	SLC25A24	OMIM:612289
HP:0000078	Abnormality of the genital system	8626	TP63	OMIM:129400
HP:0000078	Abnormality of the genital system	9896	FIG4	ORPHA:3472
HP:0000078	Abnormality of the genital system	55697	VAC14	ORPHA:3472
HP:0000078	Abnormality of the genital system	89910	UBE3B	OMIM:244450
HP:0000078	Abnormality of the genital system	9427	ECEL1	OMIM:615065
HP:0000078	Abnormality of the genital system	4920	ROR2	OMIM:268310
HP:0000078	Abnormality of the genital system	145173	B3GLCT	OMIM:261540
HP:0000078	Abnormality of the genital system	145173	B3GLCT	ORPHA:709
HP:0000078	Abnormality of the genital system	55012	PPP2R3C	OMIM:618419
HP:0000078	Abnormality of the genital system	25886	POC1A	OMIM:614813
HP:0000078	Abnormality of the genital system	7148	TNXB	OMIM:606408
HP:0000078	Abnormality of the genital system	6913	TBX15	OMIM:260660
HP:0000078	Abnormality of the genital system	1588	CYP19A1	ORPHA:91
HP:0000078	Abnormality of the genital system	2737	GLI3	ORPHA:672
HP:0000078	Abnormality of the genital system	2737	GLI3	ORPHA:93322
HP:0000078	Abnormality of the genital system	6662	SOX9	ORPHA:393
HP:0000078	Abnormality of the genital system	6662	SOX9	ORPHA:140
HP:0000078	Abnormality of the genital system	6662	SOX9	ORPHA:251510
HP:0000078	Abnormality of the genital system	6662	SOX9	ORPHA:2138
HP:0000078	Abnormality of the genital system	6658	SOX3	ORPHA:393
HP:0000078	Abnormality of the genital system	6736	SRY	ORPHA:393
HP:0000078	Abnormality of the genital system	6736	SRY	ORPHA:251510
HP:0000078	Abnormality of the genital system	6736	SRY	ORPHA:2138
HP:0000078	Abnormality of the genital system	6736	SRY	OMIM:400044
HP:0000078	Abnormality of the genital system	6736	SRY	ORPHA:1772
HP:0000078	Abnormality of the genital system	190	NR0B1	ORPHA:393
HP:0000078	Abnormality of the genital system	190	NR0B1	ORPHA:251510
HP:0000078	Abnormality of the genital system	341640	FREM2	ORPHA:2052
HP:0000078	Abnormality of the genital system	341640	FREM2	OMIM:617666
HP:0000078	Abnormality of the genital system	80144	FRAS1	ORPHA:2052
HP:0000078	Abnormality of the genital system	23426	GRIP1	ORPHA:2052
HP:0000078	Abnormality of the genital system	28981	IFT81	OMIM:617895
HP:0000078	Abnormality of the genital system	4750	NEK1	OMIM:263520
HP:0000078	Abnormality of the genital system	7026	NR2F2	OMIM:618901
HP:0000078	Abnormality of the genital system	81839	VANGL1	ORPHA:3027
HP:0000078	Abnormality of the genital system	80199	FUZ	ORPHA:3027
HP:0000078	Abnormality of the genital system	7490	WT1	ORPHA:3097
HP:0000078	Abnormality of the genital system	7490	WT1	ORPHA:251510
HP:0000078	Abnormality of the genital system	7490	WT1	ORPHA:893
HP:0000078	Abnormality of the genital system	55112	DYNC2I1	ORPHA:93271
HP:0000078	Abnormality of the genital system	55112	DYNC2I1	OMIM:615503
HP:0000078	Abnormality of the genital system	57560	IFT80	ORPHA:93271
HP:0000078	Abnormality of the genital system	57539	WDR35	ORPHA:93271
HP:0000078	Abnormality of the genital system	79659	DYNC2H1	ORPHA:93271
HP:0000078	Abnormality of the genital system	79659	DYNC2H1	OMIM:613091
HP:0000078	Abnormality of the genital system	89891	DYNC2I2	ORPHA:93271
HP:0000078	Abnormality of the genital system	117581	TWIST2	OMIM:200110
HP:0000078	Abnormality of the genital system	117581	TWIST2	ORPHA:920
HP:0000078	Abnormality of the genital system	1646	AKR1C2	OMIM:614279
HP:0000078	Abnormality of the genital system	1109	AKR1C4	OMIM:614279
HP:0000078	Abnormality of the genital system	54101	RIPK4	ORPHA:1234
HP:0000078	Abnormality of the genital system	54101	RIPK4	OMIM:263650
HP:0000078	Abnormality of the genital system	22858	CILK1	OMIM:612651
HP:0000078	Abnormality of the genital system	1717	DHCR7	ORPHA:818
HP:0000078	Abnormality of the genital system	1717	DHCR7	OMIM:270400
HP:0000078	Abnormality of the genital system	1584	CYP11B1	ORPHA:90795
HP:0000078	Abnormality of the genital system	170302	ARX	ORPHA:452
HP:0000078	Abnormality of the genital system	170302	ARX	OMIM:300215
HP:0000078	Abnormality of the genital system	2260	FGFR1	ORPHA:280200
HP:0000078	Abnormality of the genital system	28514	DLL1	ORPHA:280200
HP:0000078	Abnormality of the genital system	2253	FGF8	ORPHA:280200
HP:0000078	Abnormality of the genital system	6496	SIX3	ORPHA:280200
HP:0000078	Abnormality of the genital system	7050	TGIF1	ORPHA:280200
HP:0000078	Abnormality of the genital system	4838	NODAL	ORPHA:280200
HP:0000078	Abnormality of the genital system	6469	SHH	ORPHA:280200
HP:0000078	Abnormality of the genital system	51684	SUFU	ORPHA:280200
HP:0000078	Abnormality of the genital system	7546	ZIC2	ORPHA:280200
HP:0000078	Abnormality of the genital system	2619	GAS1	ORPHA:280200
HP:0000078	Abnormality of the genital system	84976	DISP1	ORPHA:280200
HP:0000078	Abnormality of the genital system	2736	GLI2	ORPHA:280200
HP:0000078	Abnormality of the genital system	8928	FOXH1	ORPHA:280200
HP:0000078	Abnormality of the genital system	5727	PTCH1	ORPHA:280200
HP:0000078	Abnormality of the genital system	50937	CDON	ORPHA:280200
HP:0000078	Abnormality of the genital system	7259	TSPYL1	ORPHA:168593
HP:0000078	Abnormality of the genital system	23414	ZFPM2	OMIM:616067
HP:0000078	Abnormality of the genital system	23414	ZFPM2	ORPHA:251510
HP:0000078	Abnormality of the genital system	1108	CHD4	OMIM:617159
HP:0000078	Abnormality of the genital system	114034	TOE1	OMIM:614969
HP:0000078	Abnormality of the genital system	114034	TOE1	ORPHA:284339
HP:0000078	Abnormality of the genital system	27077	B9D1	OMIM:614209
HP:0000078	Abnormality of the genital system	27077	B9D1	ORPHA:564
HP:0000078	Abnormality of the genital system	1528	CYB5A	OMIM:250790
HP:0000078	Abnormality of the genital system	54539	NDUFB11	ORPHA:2556
HP:0000078	Abnormality of the genital system	1349	COX7B	ORPHA:2556
HP:0000078	Abnormality of the genital system	3052	HCCS	ORPHA:2556
HP:0000078	Abnormality of the genital system	84314	TMEM107	ORPHA:564
HP:0000078	Abnormality of the genital system	79867	TCTN2	ORPHA:564
HP:0000078	Abnormality of the genital system	79867	TCTN2	OMIM:613885
HP:0000078	Abnormality of the genital system	80776	B9D2	ORPHA:564
HP:0000078	Abnormality of the genital system	79600	TCTN1	ORPHA:564
HP:0000078	Abnormality of the genital system	57096	RPGRIP1	ORPHA:564
HP:0000078	Abnormality of the genital system	79848	CSPP1	ORPHA:564
HP:0000078	Abnormality of the genital system	80184	CEP290	ORPHA:564
HP:0000078	Abnormality of the genital system	51259	TMEM216	ORPHA:564
HP:0000078	Abnormality of the genital system	57545	CC2D2A	ORPHA:564
HP:0000078	Abnormality of the genital system	79583	TMEM231	ORPHA:564
HP:0000078	Abnormality of the genital system	91147	TMEM67	ORPHA:564
HP:0000078	Abnormality of the genital system	79770	TXNDC15	ORPHA:564
HP:0000078	Abnormality of the genital system	79770	TXNDC15	OMIM:619879
HP:0000078	Abnormality of the genital system	23322	RPGRIP1L	ORPHA:564
HP:0000078	Abnormality of the genital system	65062	TMEM237	ORPHA:564
HP:0000078	Abnormality of the genital system	9184	BUB3	ORPHA:1052
HP:0000078	Abnormality of the genital system	699	BUB1	ORPHA:1052
HP:0000078	Abnormality of the genital system	9702	CEP57	ORPHA:1052
HP:0000078	Abnormality of the genital system	9319	TRIP13	ORPHA:1052
HP:0000078	Abnormality of the genital system	701	BUB1B	ORPHA:1052
HP:0000078	Abnormality of the genital system	701	BUB1B	OMIM:257300
HP:0000078	Abnormality of the genital system	2626	GATA4	OMIM:615542
HP:0000078	Abnormality of the genital system	2626	GATA4	ORPHA:251510
HP:0000078	Abnormality of the genital system	6845	VAMP7	ORPHA:251510
HP:0000078	Abnormality of the genital system	51741	WWOX	ORPHA:251510
HP:0000078	Abnormality of the genital system	4214	MAP3K1	ORPHA:251510
HP:0000078	Abnormality of the genital system	58524	DMRT3	ORPHA:251510
HP:0000078	Abnormality of the genital system	57647	DHX37	ORPHA:251510
HP:0000078	Abnormality of the genital system	57647	DHX37	ORPHA:983
HP:0000078	Abnormality of the genital system	3293	HSD17B3	ORPHA:752
HP:0000078	Abnormality of the genital system	348180	CTU2	OMIM:618142
HP:0000078	Abnormality of the genital system	95681	CEP41	OMIM:614464
HP:0000078	Abnormality of the genital system	150468	CKAP2L	OMIM:272440
HP:0000078	Abnormality of the genital system	526	ATP6V1B2	ORPHA:79500
HP:0000078	Abnormality of the genital system	57465	TBC1D24	ORPHA:79500
HP:0000078	Abnormality of the genital system	1718	DHCR24	ORPHA:35107
HP:0000078	Abnormality of the genital system	374879	ZNF699	OMIM:619488
HP:0000078	Abnormality of the genital system	2232	FDXR	ORPHA:543470
HP:0000078	Abnormality of the genital system	10293	TRAIP	OMIM:616777
HP:0000078	Abnormality of the genital system	5080	PAX6	ORPHA:893
HP:0000078	Abnormality of the genital system	627	BDNF	ORPHA:893
HP:0000078	Abnormality of the genital system	745	MYRF	OMIM:618280
HP:0000078	Abnormality of the genital system	3284	HSD3B2	OMIM:201810
HP:0000078	Abnormality of the genital system	153241	CEP120	OMIM:616300
HP:0000078	Abnormality of the genital system	3664	IRF6	ORPHA:1300
HP:0000078	Abnormality of the genital system	3239	HOXD13	ORPHA:887
HP:0000078	Abnormality of the genital system	29893	PSMC3IP	ORPHA:243
HP:0000078	Abnormality of the genital system	171568	POLR3H	ORPHA:243
HP:0000078	Abnormality of the genital system	125150	ZSWIM7	ORPHA:243
HP:0000078	Abnormality of the genital system	9210	BMP15	ORPHA:243
HP:0000078	Abnormality of the genital system	57122	NUP107	ORPHA:243
HP:0000078	Abnormality of the genital system	23514	SPIDR	ORPHA:243
HP:0000078	Abnormality of the genital system	2492	FSHR	ORPHA:243
HP:0000078	Abnormality of the genital system	56945	MRPS22	ORPHA:243
HP:0000078	Abnormality of the genital system	646	BNC1	ORPHA:243
HP:0000078	Abnormality of the genital system	9562	MINPP1	ORPHA:284339
HP:0000078	Abnormality of the genital system	1586	CYP17A1	OMIM:202110
HP:0000078	Abnormality of the genital system	5087	PBX1	OMIM:617641
HP:0000078	Abnormality of the genital system	6716	SRD5A2	ORPHA:753
HP:0000078	Abnormality of the genital system	471	ATIC	ORPHA:250977
HP:0000078	Abnormality of the genital system	471	ATIC	OMIM:608688
HP:0000078	Abnormality of the genital system	2571	GAD1	OMIM:619124
HP:0000078	Abnormality of the genital system	4998	ORC1	OMIM:224690
HP:0000078	Abnormality of the genital system	4998	ORC1	ORPHA:2554
HP:0000078	Abnormality of the genital system	1857	DVL3	ORPHA:3107
HP:0000078	Abnormality of the genital system	7474	WNT5A	ORPHA:3107
HP:0000078	Abnormality of the genital system	1855	DVL1	ORPHA:3107
HP:0000078	Abnormality of the genital system	22931	RAB18	OMIM:614222
HP:0000078	Abnormality of the genital system	22931	RAB18	ORPHA:2510
HP:0000078	Abnormality of the genital system	60	ACTB	ORPHA:64755
HP:0000078	Abnormality of the genital system	23594	ORC6	OMIM:613803
HP:0000078	Abnormality of the genital system	23594	ORC6	ORPHA:2554
HP:0000078	Abnormality of the genital system	81620	CDT1	ORPHA:2554
HP:0000078	Abnormality of the genital system	8318	CDC45	ORPHA:2554
HP:0000078	Abnormality of the genital system	990	CDC6	ORPHA:2554
HP:0000078	Abnormality of the genital system	51053	GMNN	ORPHA:2554
HP:0000078	Abnormality of the genital system	25782	RAB3GAP2	ORPHA:2510
HP:0000078	Abnormality of the genital system	128637	TBC1D20	ORPHA:2510
HP:0000078	Abnormality of the genital system	57061	HYMAI	ORPHA:96191
HP:0000078	Abnormality of the genital system	5325	PLAGL1	ORPHA:96191
HP:0000078	Abnormality of the genital system	2535	FZD2	OMIM:164745
HP:0000078	Abnormality of the genital system	10236	HNRNPR	OMIM:620073
HP:0000078	Abnormality of the genital system	6595	SMARCA2	OMIM:619293
HP:0000078	Abnormality of the genital system	64840	PORCN	OMIM:305600
HP:0000078	Abnormality of the genital system	5447	POR	OMIM:201750
HP:0000078	Abnormality of the genital system	92002	CCNQ	ORPHA:140952
HP:0000078	Abnormality of the genital system	92002	CCNQ	OMIM:300707
HP:0000078	Abnormality of the genital system	23522	KAT6B	OMIM:606170
HP:0000078	Abnormality of the genital system	5000	ORC4	OMIM:613800
HP:0000078	Abnormality of the genital system	9723	SEMA3E	ORPHA:138
HP:0000078	Abnormality of the genital system	6660	SOX5	ORPHA:313892
HP:0000078	Abnormality of the genital system	201595	STT3B	ORPHA:370924
HP:0000078	Abnormality of the genital system	114548	NLRP3	ORPHA:575
HP:0000078	Abnormality of the genital system	22800	RRAS2	ORPHA:648
HP:0000078	Abnormality of the genital system	867	CBL	ORPHA:648
HP:0000078	Abnormality of the genital system	8216	LZTR1	ORPHA:648
HP:0000078	Abnormality of the genital system	6016	RIT1	ORPHA:648
HP:0000078	Abnormality of the genital system	6237	RRAS	ORPHA:648
HP:0000078	Abnormality of the genital system	5894	RAF1	ORPHA:648
HP:0000078	Abnormality of the genital system	5894	RAF1	ORPHA:500
HP:0000078	Abnormality of the genital system	22808	MRAS	ORPHA:648
HP:0000078	Abnormality of the genital system	3845	KRAS	ORPHA:648
HP:0000078	Abnormality of the genital system	200734	SPRED2	ORPHA:648
HP:0000078	Abnormality of the genital system	4893	NRAS	ORPHA:648
HP:0000078	Abnormality of the genital system	6654	SOS1	ORPHA:648
HP:0000078	Abnormality of the genital system	6655	SOS2	ORPHA:648
HP:0000078	Abnormality of the genital system	5781	PTPN11	ORPHA:648
HP:0000078	Abnormality of the genital system	5781	PTPN11	ORPHA:500
HP:0000078	Abnormality of the genital system	5922	RASA2	ORPHA:648
HP:0000078	Abnormality of the genital system	79813	EHMT1	ORPHA:261652
HP:0000078	Abnormality of the genital system	58508	KMT2C	ORPHA:261652
HP:0000078	Abnormality of the genital system	10815	CPLX1	ORPHA:280
HP:0000078	Abnormality of the genital system	54872	PIGG	ORPHA:280
HP:0000078	Abnormality of the genital system	7469	NELFA	ORPHA:280
HP:0000078	Abnormality of the genital system	1487	CTBP1	ORPHA:280
HP:0000078	Abnormality of the genital system	3954	LETM1	ORPHA:280
HP:0000078	Abnormality of the genital system	7468	NSD2	ORPHA:280
HP:0000078	Abnormality of the genital system	5426	POLE	ORPHA:85173
HP:0000078	Abnormality of the genital system	2108	ETFA	OMIM:231680
HP:0000078	Abnormality of the genital system	2109	ETFB	OMIM:231680
HP:0000078	Abnormality of the genital system	2110	ETFDH	OMIM:231680
HP:0000078	Abnormality of the genital system	2067	ERCC1	OMIM:610758
HP:0000078	Abnormality of the genital system	84133	ZNRF3	ORPHA:1501
HP:0000078	Abnormality of the genital system	7157	TP53	ORPHA:1501
HP:0000078	Abnormality of the genital system	5573	PRKAR1A	ORPHA:1501
HP:0000078	Abnormality of the genital system	1499	CTNNB1	ORPHA:1501
HP:0000078	Abnormality of the genital system	1029	CDKN2A	ORPHA:1501
HP:0000078	Abnormality of the genital system	7015	TERT	ORPHA:1501
HP:0000078	Abnormality of the genital system	80000	GREB1L	OMIM:617805
HP:0000078	Abnormality of the genital system	2157	F8	ORPHA:177926
HP:0000078	Abnormality of the genital system	2157	F8	ORPHA:169802
HP:0000078	Abnormality of the genital system	2811	GP1BA	OMIM:153670
HP:0000078	Abnormality of the genital system	2811	GP1BA	ORPHA:274
HP:0000078	Abnormality of the genital system	2811	GP1BA	OMIM:231200
HP:0000078	Abnormality of the genital system	2815	GP9	ORPHA:274
HP:0000078	Abnormality of the genital system	2815	GP9	OMIM:231200
HP:0000078	Abnormality of the genital system	7450	VWF	OMIM:193400
HP:0000078	Abnormality of the genital system	7450	VWF	OMIM:613554
HP:0000078	Abnormality of the genital system	7450	VWF	OMIM:277480
HP:0000078	Abnormality of the genital system	5054	SERPINE1	ORPHA:465
HP:0000078	Abnormality of the genital system	5054	SERPINE1	OMIM:613329
HP:0000078	Abnormality of the genital system	89781	HPS4	OMIM:614073
HP:0000078	Abnormality of the genital system	388552	BLOC1S3	OMIM:614077
HP:0000078	Abnormality of the genital system	3998	LMAN1	ORPHA:35909
HP:0000078	Abnormality of the genital system	90411	MCFD2	ORPHA:35909
HP:0000078	Abnormality of the genital system	90411	MCFD2	OMIM:613625
HP:0000078	Abnormality of the genital system	84062	DTNBP1	OMIM:614076
HP:0000078	Abnormality of the genital system	5568	PRKACG	OMIM:616176
HP:0000078	Abnormality of the genital system	10235	RASGRP2	OMIM:615888
HP:0000078	Abnormality of the genital system	2165	F13B	ORPHA:331
HP:0000078	Abnormality of the genital system	2162	F13A1	ORPHA:331
HP:0000078	Abnormality of the genital system	63915	BLOC1S5	OMIM:619172
HP:0000078	Abnormality of the genital system	2159	F10	OMIM:227600
HP:0000078	Abnormality of the genital system	2159	F10	ORPHA:328
HP:0000078	Abnormality of the genital system	51206	GP6	OMIM:614201
HP:0000078	Abnormality of the genital system	2147	F2	OMIM:613679
HP:0000078	Abnormality of the genital system	2147	F2	ORPHA:325
HP:0000078	Abnormality of the genital system	2160	F11	ORPHA:329
HP:0000078	Abnormality of the genital system	4627	MYH9	OMIM:155100
HP:0000078	Abnormality of the genital system	4627	MYH9	ORPHA:182050
HP:0000078	Abnormality of the genital system	5328	PLAU	OMIM:601709
HP:0000078	Abnormality of the genital system	342618	SLFN14	OMIM:616913
HP:0000078	Abnormality of the genital system	1729	DIAPH1	OMIM:124900
HP:0000078	Abnormality of the genital system	3295	HSD17B4	OMIM:233400
HP:0000078	Abnormality of the genital system	3479	IGF1	ORPHA:73272
HP:0000078	Abnormality of the genital system	27183	VPS4A	OMIM:619273
HP:0000078	Abnormality of the genital system	92840	REEP6	ORPHA:791
HP:0000078	Abnormality of the genital system	6094	ROM1	ORPHA:791
HP:0000078	Abnormality of the genital system	6017	RLBP1	ORPHA:791
HP:0000078	Abnormality of the genital system	7401	CLRN1	ORPHA:791
HP:0000078	Abnormality of the genital system	24	ABCA4	ORPHA:791
HP:0000078	Abnormality of the genital system	130557	ZNF513	ORPHA:791
HP:0000078	Abnormality of the genital system	92211	CDHR1	ORPHA:791
HP:0000078	Abnormality of the genital system	23568	ARL2BP	ORPHA:791
HP:0000078	Abnormality of the genital system	6121	RPE65	ORPHA:791
HP:0000078	Abnormality of the genital system	54806	AHI1	ORPHA:791
HP:0000078	Abnormality of the genital system	6101	RP1	ORPHA:791
HP:0000078	Abnormality of the genital system	3419	IDH3A	ORPHA:791
HP:0000078	Abnormality of the genital system	4751	NEK2	ORPHA:791
HP:0000078	Abnormality of the genital system	346007	EYS	ORPHA:791
HP:0000078	Abnormality of the genital system	8100	IFT88	ORPHA:791
HP:0000078	Abnormality of the genital system	23020	SNRNP200	ORPHA:791
HP:0000078	Abnormality of the genital system	762	CA4	ORPHA:791
HP:0000078	Abnormality of the genital system	138050	HGSNAT	ORPHA:791
HP:0000078	Abnormality of the genital system	196	AHR	ORPHA:791
HP:0000078	Abnormality of the genital system	3614	IMPDH1	ORPHA:791
HP:0000078	Abnormality of the genital system	6103	RPGR	ORPHA:791
HP:0000078	Abnormality of the genital system	1406	CRX	ORPHA:791
HP:0000078	Abnormality of the genital system	5148	PDE6G	ORPHA:791
HP:0000078	Abnormality of the genital system	26121	PRPF31	ORPHA:791
HP:0000078	Abnormality of the genital system	4117	MAK	ORPHA:791
HP:0000078	Abnormality of the genital system	25794	FSCN2	ORPHA:791
HP:0000078	Abnormality of the genital system	375298	CERKL	ORPHA:791
HP:0000078	Abnormality of the genital system	3420	IDH3B	ORPHA:791
HP:0000078	Abnormality of the genital system	57670	KIAA1549	ORPHA:791
HP:0000078	Abnormality of the genital system	7275	TUB	ORPHA:791
HP:0000078	Abnormality of the genital system	24148	PRPF6	ORPHA:791
HP:0000078	Abnormality of the genital system	23418	CRB1	ORPHA:791
HP:0000078	Abnormality of the genital system	10461	MERTK	ORPHA:791
HP:0000078	Abnormality of the genital system	57709	SLC7A14	ORPHA:791
HP:0000078	Abnormality of the genital system	768206	PRCD	ORPHA:791
HP:0000078	Abnormality of the genital system	7399	USH2A	ORPHA:791
HP:0000078	Abnormality of the genital system	23370	ARHGEF18	ORPHA:791
HP:0000078	Abnormality of the genital system	5949	RBP3	ORPHA:791
HP:0000078	Abnormality of the genital system	6010	RHO	ORPHA:791
HP:0000078	Abnormality of the genital system	6100	RP9	ORPHA:791
HP:0000078	Abnormality of the genital system	10002	NR2E3	ORPHA:791
HP:0000078	Abnormality of the genital system	9227	LRAT	ORPHA:791
HP:0000078	Abnormality of the genital system	84140	FAM161A	ORPHA:791
HP:0000078	Abnormality of the genital system	55812	SPATA7	ORPHA:791
HP:0000078	Abnormality of the genital system	55624	POMGNT1	ORPHA:791
HP:0000078	Abnormality of the genital system	79797	ZNF408	ORPHA:791
HP:0000078	Abnormality of the genital system	403	ARL3	ORPHA:791
HP:0000078	Abnormality of the genital system	5145	PDE6A	ORPHA:791
HP:0000078	Abnormality of the genital system	10210	TOPORS	ORPHA:791
HP:0000078	Abnormality of the genital system	8842	PROM1	ORPHA:791
HP:0000078	Abnormality of the genital system	9128	PRPF4	ORPHA:791
HP:0000078	Abnormality of the genital system	145226	RDH12	ORPHA:791
HP:0000078	Abnormality of the genital system	50939	IMPG2	ORPHA:791
HP:0000078	Abnormality of the genital system	8481	OFD1	ORPHA:791
HP:0000078	Abnormality of the genital system	49855	SCAPER	ORPHA:791
HP:0000078	Abnormality of the genital system	49855	SCAPER	ORPHA:110
HP:0000078	Abnormality of the genital system	9742	IFT140	ORPHA:791
HP:0000078	Abnormality of the genital system	2979	GUCA1B	ORPHA:791
HP:0000078	Abnormality of the genital system	1259	CNGA1	ORPHA:791
HP:0000078	Abnormality of the genital system	1258	CNGB1	ORPHA:791
HP:0000078	Abnormality of the genital system	60509	AGBL5	ORPHA:791
HP:0000078	Abnormality of the genital system	5961	PRPH2	ORPHA:791
HP:0000078	Abnormality of the genital system	388939	PCARE	ORPHA:791
HP:0000078	Abnormality of the genital system	7439	BEST1	ORPHA:791
HP:0000078	Abnormality of the genital system	9785	DHX38	ORPHA:791
HP:0000078	Abnormality of the genital system	7287	TULP1	ORPHA:791
HP:0000078	Abnormality of the genital system	5995	RGR	ORPHA:791
HP:0000078	Abnormality of the genital system	9129	PRPF3	ORPHA:791
HP:0000078	Abnormality of the genital system	55975	KLHL7	ORPHA:791
HP:0000078	Abnormality of the genital system	3617	IMPG1	ORPHA:791
HP:0000078	Abnormality of the genital system	94137	RP1L1	ORPHA:791
HP:0000078	Abnormality of the genital system	5158	PDE6B	ORPHA:791
HP:0000078	Abnormality of the genital system	6102	RP2	ORPHA:791
HP:0000078	Abnormality of the genital system	55857	KIZ	ORPHA:791
HP:0000078	Abnormality of the genital system	64218	SEMA4A	ORPHA:791
HP:0000078	Abnormality of the genital system	4901	NRL	ORPHA:791
HP:0000078	Abnormality of the genital system	157657	CFAP418	ORPHA:791
HP:0000078	Abnormality of the genital system	157657	CFAP418	ORPHA:110
HP:0000078	Abnormality of the genital system	10594	PRPF8	ORPHA:791
HP:0000078	Abnormality of the genital system	6295	SAG	ORPHA:791
HP:0000078	Abnormality of the genital system	83932	SPRTN	OMIM:616200
HP:0000078	Abnormality of the genital system	55240	STEAP3	OMIM:615234
HP:0000078	Abnormality of the genital system	55240	STEAP3	ORPHA:300298
HP:0000078	Abnormality of the genital system	7555	CNBP	OMIM:602668
HP:0000078	Abnormality of the genital system	9342	SNAP29	ORPHA:66631
HP:0000078	Abnormality of the genital system	10273	STUB1	OMIM:615768
HP:0000078	Abnormality of the genital system	10273	STUB1	ORPHA:412057
HP:0000078	Abnormality of the genital system	23600	AMACR	ORPHA:79095
HP:0000078	Abnormality of the genital system	1760	DMPK	OMIM:160900
HP:0000078	Abnormality of the genital system	10059	DNM1L	ORPHA:98673
HP:0000078	Abnormality of the genital system	4976	OPA1	ORPHA:98673
HP:0000078	Abnormality of the genital system	2073	ERCC5	ORPHA:1466
HP:0000078	Abnormality of the genital system	2073	ERCC5	ORPHA:910
HP:0000078	Abnormality of the genital system	412	STS	ORPHA:281090
HP:0000078	Abnormality of the genital system	26146	TRAF3IP1	OMIM:616629
HP:0000078	Abnormality of the genital system	56652	TWNK	OMIM:609286
HP:0000078	Abnormality of the genital system	55630	SLC39A4	OMIM:201100
HP:0000078	Abnormality of the genital system	617	BCS1L	OMIM:262000
HP:0000078	Abnormality of the genital system	617	BCS1L	ORPHA:123
HP:0000078	Abnormality of the genital system	2071	ERCC3	OMIM:610651
HP:0000078	Abnormality of the genital system	2071	ERCC3	ORPHA:910
HP:0000078	Abnormality of the genital system	57817	HAMP	ORPHA:79230
HP:0000078	Abnormality of the genital system	57817	HAMP	OMIM:613313
HP:0000078	Abnormality of the genital system	92482	BBIP1	ORPHA:110
HP:0000078	Abnormality of the genital system	4867	NPHP1	ORPHA:110
HP:0000078	Abnormality of the genital system	51057	WDPCP	ORPHA:110
HP:0000078	Abnormality of the genital system	27241	BBS9	ORPHA:110
HP:0000078	Abnormality of the genital system	84984	CEP19	ORPHA:110
HP:0000078	Abnormality of the genital system	22954	TRIM32	ORPHA:110
HP:0000078	Abnormality of the genital system	22954	TRIM32	OMIM:615988
HP:0000078	Abnormality of the genital system	79738	BBS10	ORPHA:110
HP:0000078	Abnormality of the genital system	79738	BBS10	OMIM:615987
HP:0000078	Abnormality of the genital system	55212	BBS7	ORPHA:110
HP:0000078	Abnormality of the genital system	55212	BBS7	OMIM:615984
HP:0000078	Abnormality of the genital system	166379	BBS12	ORPHA:110
HP:0000078	Abnormality of the genital system	166379	BBS12	OMIM:615989
HP:0000078	Abnormality of the genital system	80173	IFT74	ORPHA:110
HP:0000078	Abnormality of the genital system	80173	IFT74	OMIM:617119
HP:0000078	Abnormality of the genital system	493856	CISD2	ORPHA:3463
HP:0000078	Abnormality of the genital system	7466	WFS1	ORPHA:3463
HP:0000078	Abnormality of the genital system	7040	TGFB1	ORPHA:1328
HP:0000078	Abnormality of the genital system	3043	HBB	ORPHA:231222
HP:0000078	Abnormality of the genital system	5495	PPM1B	ORPHA:163693
HP:0000078	Abnormality of the genital system	6519	SLC3A1	ORPHA:163693
HP:0000078	Abnormality of the genital system	9581	PREPL	ORPHA:163693
HP:0000078	Abnormality of the genital system	79823	CAMKMT	ORPHA:163693
HP:0000078	Abnormality of the genital system	415	ARSL	OMIM:302950
HP:0000078	Abnormality of the genital system	26137	ZBTB20	ORPHA:3042
HP:0000078	Abnormality of the genital system	56052	ALG1	OMIM:608540
HP:0000078	Abnormality of the genital system	7507	XPA	ORPHA:910
HP:0000078	Abnormality of the genital system	7508	XPC	ORPHA:910
HP:0000078	Abnormality of the genital system	1643	DDB2	ORPHA:910
HP:0000078	Abnormality of the genital system	64682	ANAPC1	ORPHA:221008
HP:0000078	Abnormality of the genital system	26227	PHGDH	OMIM:256520
HP:0000078	Abnormality of the genital system	4609	MYC	ORPHA:543
HP:0000078	Abnormality of the genital system	5340	PLG	ORPHA:722
HP:0000078	Abnormality of the genital system	5295	PIK3R1	OMIM:269880
HP:0000078	Abnormality of the genital system	55503	TRPV6	OMIM:618188
HP:0000078	Abnormality of the genital system	6794	STK11	OMIM:175200
HP:0000078	Abnormality of the genital system	2155	F7	ORPHA:327
HP:0000078	Abnormality of the genital system	4437	MSH3	OMIM:617100
HP:0000078	Abnormality of the genital system	1277	COL1A1	ORPHA:287
HP:0000078	Abnormality of the genital system	1289	COL5A1	ORPHA:287
HP:0000078	Abnormality of the genital system	1290	COL5A2	ORPHA:287
HP:0000078	Abnormality of the genital system	4088	SMAD3	ORPHA:284984
HP:0000078	Abnormality of the genital system	4088	SMAD3	OMIM:613795
HP:0000078	Abnormality of the genital system	6197	RPS6KA3	OMIM:303600
HP:0000078	Abnormality of the genital system	540	ATP7B	ORPHA:905
HP:0000078	Abnormality of the genital system	54766	BTG4	OMIM:619009
HP:0000078	Abnormality of the genital system	55109	AGGF1	ORPHA:90308
HP:0000078	Abnormality of the genital system	7454	WAS	ORPHA:906
HP:0000078	Abnormality of the genital system	7456	WIPF1	ORPHA:906
HP:0000078	Abnormality of the genital system	23218	NBEAL2	ORPHA:721
HP:0000078	Abnormality of the genital system	5618	PRLR	ORPHA:397685
HP:0000078	Abnormality of the genital system	23438	HARS2	OMIM:614926
HP:0000078	Abnormality of the genital system	4439	MSH5	OMIM:617442
HP:0000078	Abnormality of the genital system	164045	HFM1	OMIM:615724
HP:0000078	Abnormality of the genital system	11232	POLG2	OMIM:619425
HP:0000078	Abnormality of the genital system	84168	ANTXR1	ORPHA:2067
HP:0000078	Abnormality of the genital system	84818	IL17RC	ORPHA:1334
HP:0000078	Abnormality of the genital system	64581	CLEC7A	ORPHA:1334
HP:0000078	Abnormality of the genital system	23765	IL17RA	ORPHA:1334
HP:0000078	Abnormality of the genital system	10758	TRAF3IP2	ORPHA:1334
HP:0000078	Abnormality of the genital system	112744	IL17F	ORPHA:1334
HP:0000078	Abnormality of the genital system	9361	LONP1	OMIM:600373
HP:0000078	Abnormality of the genital system	57167	SALL4	OMIM:147750
HP:0000078	Abnormality of the genital system	57167	SALL4	ORPHA:2307
HP:0000078	Abnormality of the genital system	3588	IL10RB	OMIM:612567
HP:0000078	Abnormality of the genital system	10653	SPINT2	OMIM:270420
HP:0000078	Abnormality of the genital system	9401	RECQL4	OMIM:218600
HP:0000078	Abnormality of the genital system	1642	DDB1	OMIM:619426
HP:0000078	Abnormality of the genital system	3718	JAK3	ORPHA:35078
HP:0000078	Abnormality of the genital system	158326	FREM1	OMIM:608980
HP:0000078	Abnormality of the genital system	5297	PI4KA	OMIM:619708
HP:0000078	Abnormality of the genital system	1131	CHRM3	ORPHA:2970
HP:0000078	Abnormality of the genital system	7486	WRN	ORPHA:902
HP:0000078	Abnormality of the genital system	136647	MPLKIP	OMIM:234050
HP:0000078	Abnormality of the genital system	10568	SLC34A2	ORPHA:60025
HP:0000078	Abnormality of the genital system	93233	ODAD1	OMIM:615067
HP:0000078	Abnormality of the genital system	668	FOXL2	ORPHA:572333
HP:0000078	Abnormality of the genital system	3991	LIPE	ORPHA:435660
HP:0000078	Abnormality of the genital system	4519	MT-CYB	ORPHA:137675
HP:0000078	Abnormality of the genital system	2321	FLT1	ORPHA:275555
HP:0000078	Abnormality of the genital system	219736	STOX1	ORPHA:275555
HP:0000078	Abnormality of the genital system	10699	CORIN	ORPHA:275555
HP:0000078	Abnormality of the genital system	118429	ANTXR2	ORPHA:2176
HP:0000078	Abnormality of the genital system	5346	PLIN1	ORPHA:280356
HP:0000078	Abnormality of the genital system	2099	ESR1	OMIM:615363
HP:0000078	Abnormality of the genital system	63924	CIDEC	ORPHA:435651
HP:0000078	Abnormality of the genital system	6927	HNF1A	OMIM:142330
HP:0000078	Abnormality of the genital system	2542	SLC37A4	ORPHA:79259
HP:0000078	Abnormality of the genital system	208	AKT2	ORPHA:79085
HP:0000078	Abnormality of the genital system	5257	PHKB	ORPHA:79240
HP:0000078	Abnormality of the genital system	4313	MMP2	ORPHA:371428
HP:0000078	Abnormality of the genital system	4323	MMP14	ORPHA:371428
HP:0000078	Abnormality of the genital system	5256	PHKA2	ORPHA:264580
HP:0000078	Abnormality of the genital system	5261	PHKG2	ORPHA:264580
HP:0000078	Abnormality of the genital system	4487	MSX1	ORPHA:2228
HP:0000078	Abnormality of the genital system	8516	ITGA8	OMIM:191830
HP:0000078	Abnormality of the genital system	9928	KIF14	OMIM:616258
HP:0000078	Abnormality of the genital system	9928	KIF14	OMIM:617914
HP:0000078	Abnormality of the genital system	9939	RBM8A	ORPHA:3320
HP:0000078	Abnormality of the genital system	9939	RBM8A	OMIM:274000
HP:0000078	Abnormality of the genital system	5518	PPP2R1A	ORPHA:457284
HP:0000078	Abnormality of the genital system	254394	MCM9	OMIM:616185
HP:0000078	Abnormality of the genital system	55154	MSTO1	OMIM:617675
HP:0000078	Abnormality of the genital system	55154	MSTO1	ORPHA:502423
HP:0000078	Abnormality of the genital system	2661	GDF9	OMIM:618014
HP:0000078	Abnormality of the genital system	8565	YARS1	OMIM:619418
HP:0000078	Abnormality of the genital system	93587	TRMT10A	OMIM:616033
HP:0000078	Abnormality of the genital system	353238	PADI6	OMIM:617234
HP:0000078	Abnormality of the genital system	3117	HLA-DQA1	OMIM:212750
HP:0000078	Abnormality of the genital system	3119	HLA-DQB1	OMIM:212750
HP:0000078	Abnormality of the genital system	8913	CACNA1G	ORPHA:458803
HP:0000078	Abnormality of the genital system	2982	GUCY1A1	OMIM:615750
HP:0000078	Abnormality of the genital system	7276	TTR	OMIM:105210
HP:0000078	Abnormality of the genital system	7276	TTR	ORPHA:85447
HP:0000078	Abnormality of the genital system	724066	ATXN8	ORPHA:98760
HP:0000078	Abnormality of the genital system	6315	ATXN8OS	ORPHA:98760
HP:0000078	Abnormality of the genital system	26278	SACS	ORPHA:98
HP:0000078	Abnormality of the genital system	3074	HEXB	OMIM:268800
HP:0000078	Abnormality of the genital system	30061	SLC40A1	OMIM:606069
HP:0000078	Abnormality of the genital system	101929726	MYMX	ORPHA:1358
HP:0000078	Abnormality of the genital system	3782	KCNN3	ORPHA:3473
HP:0000078	Abnormality of the genital system	1585	CYP11B2	ORPHA:556030
HP:0000078	Abnormality of the genital system	10262	SF3B4	OMIM:154400
HP:0000078	Abnormality of the genital system	4036	LRP2	OMIM:222448
HP:0000078	Abnormality of the genital system	4036	LRP2	ORPHA:2143
HP:0000078	Abnormality of the genital system	197	AHSG	ORPHA:2850
HP:0000078	Abnormality of the genital system	3694	ITGB6	ORPHA:2850
HP:0000078	Abnormality of the genital system	92667	MGME1	ORPHA:352447
HP:0000078	Abnormality of the genital system	92667	MGME1	OMIM:615084
HP:0000078	Abnormality of the genital system	8878	SQSTM1	OMIM:617145
HP:0000078	Abnormality of the genital system	51081	MRPS7	OMIM:617872
HP:0000078	Abnormality of the genital system	9692	PRORP	OMIM:619737
HP:0000078	Abnormality of the genital system	8192	CLPP	OMIM:614129
HP:0000078	Abnormality of the genital system	658	BMPR1B	OMIM:609441
HP:0000078	Abnormality of the genital system	50964	SOST	OMIM:269500
HP:0000078	Abnormality of the genital system	11077	HSF2BP	OMIM:619245
HP:0000078	Abnormality of the genital system	26284	ERAL1	OMIM:617565
HP:0000078	Abnormality of the genital system	55213	RCBTB1	OMIM:617175
HP:0000078	Abnormality of the genital system	1730	DIAPH2	OMIM:300511
HP:0000078	Abnormality of the genital system	9060	PAPSS2	OMIM:612847
HP:0000078	Abnormality of the genital system	1967	EIF2B1	OMIM:603896
HP:0000078	Abnormality of the genital system	6907	TBL1X	OMIM:301033
HP:0000078	Abnormality of the genital system	2186	BPTF	ORPHA:529962
HP:0000078	Abnormality of the genital system	344018	FIGLA	OMIM:612310
HP:0000078	Abnormality of the genital system	7086	TKT	ORPHA:488618
HP:0000078	Abnormality of the genital system	9563	H6PD	OMIM:604931
HP:0000078	Abnormality of the genital system	9839	ZEB2	ORPHA:261537
HP:0000078	Abnormality of the genital system	9839	ZEB2	ORPHA:261552
HP:0000078	Abnormality of the genital system	197131	UBR1	OMIM:243800
HP:0000078	Abnormality of the genital system	54880	BCOR	OMIM:300166
HP:0000078	Abnormality of the genital system	2625	GATA3	ORPHA:2237
HP:0000078	Abnormality of the genital system	2625	GATA3	OMIM:146255
HP:0000078	Abnormality of the genital system	27152	INTU	OMIM:617925
HP:0000078	Abnormality of the genital system	7355	SLC35A2	OMIM:300896
HP:0000078	Abnormality of the genital system	55612	FERMT1	OMIM:173650
HP:0000078	Abnormality of the genital system	55612	FERMT1	ORPHA:2908
HP:0000078	Abnormality of the genital system	6714	SRC	OMIM:114500
HP:0000078	Abnormality of the genital system	201163	FLCN	OMIM:114500
HP:0000078	Abnormality of the genital system	10395	DLC1	OMIM:114500
HP:0000078	Abnormality of the genital system	8313	AXIN2	OMIM:114500
HP:0000078	Abnormality of the genital system	5782	PTPN12	OMIM:114500
HP:0000078	Abnormality of the genital system	5320	PLA2G2A	OMIM:114500
HP:0000078	Abnormality of the genital system	6790	AURKA	OMIM:114500
HP:0000078	Abnormality of the genital system	581	BAX	OMIM:114500
HP:0000078	Abnormality of the genital system	25788	RAD54B	OMIM:114500
HP:0000078	Abnormality of the genital system	7097	TLR2	OMIM:114500
HP:0000078	Abnormality of the genital system	4163	MCC	OMIM:114500
HP:0000078	Abnormality of the genital system	5157	PDGFRL	OMIM:114500
HP:0000078	Abnormality of the genital system	5795	PTPRJ	OMIM:114500
HP:0000078	Abnormality of the genital system	242	ALOX12B	OMIM:242100
HP:0000078	Abnormality of the genital system	59344	ALOXE3	OMIM:242100
HP:0000078	Abnormality of the genital system	23347	SMCHD1	ORPHA:2250
HP:0000078	Abnormality of the genital system	11020	IFT27	OMIM:615996
HP:0000078	Abnormality of the genital system	10806	SDCCAG8	OMIM:615993
HP:0000078	Abnormality of the genital system	9791	PTDSS1	ORPHA:2658
HP:0000078	Abnormality of the genital system	23314	SATB2	ORPHA:251028
HP:0000078	Abnormality of the genital system	8818	DPM2	ORPHA:329178
HP:0000078	Abnormality of the genital system	80152	CENPT	OMIM:618702
HP:0000078	Abnormality of the genital system	5189	PEX1	ORPHA:3220
HP:0000078	Abnormality of the genital system	5190	PEX6	ORPHA:3220
HP:0000078	Abnormality of the genital system	7681	MKRN3	OMIM:176270
HP:0000078	Abnormality of the genital system	3653	IPW	OMIM:176270
HP:0000078	Abnormality of the genital system	54551	MAGEL2	OMIM:176270
HP:0000078	Abnormality of the genital system	54551	MAGEL2	ORPHA:98754
HP:0000078	Abnormality of the genital system	54551	MAGEL2	ORPHA:177904
HP:0000078	Abnormality of the genital system	54551	MAGEL2	ORPHA:177901
HP:0000078	Abnormality of the genital system	54551	MAGEL2	ORPHA:398069
HP:0000078	Abnormality of the genital system	54551	MAGEL2	ORPHA:177910
HP:0000078	Abnormality of the genital system	791114	PWRN1	OMIM:176270
HP:0000078	Abnormality of the genital system	100033413	SNORD116-1	OMIM:176270
HP:0000078	Abnormality of the genital system	8924	HERC2	OMIM:176270
HP:0000078	Abnormality of the genital system	145624	PWAR1	OMIM:176270
HP:0000078	Abnormality of the genital system	23742	NPAP1	OMIM:176270
HP:0000078	Abnormality of the genital system	338433	SNORD115-1	OMIM:176270
HP:0000078	Abnormality of the genital system	51715	RAB23	OMIM:201000
HP:0000078	Abnormality of the genital system	51715	RAB23	ORPHA:65759
HP:0000078	Abnormality of the genital system	51124	IER3IP1	OMIM:614231
HP:0000078	Abnormality of the genital system	6492	SIM1	ORPHA:398079
HP:0000078	Abnormality of the genital system	57492	ARID1B	ORPHA:251056
HP:0000078	Abnormality of the genital system	7841	MOGS	ORPHA:79330
HP:0000078	Abnormality of the genital system	388015	RTL1	ORPHA:96334
HP:0000078	Abnormality of the genital system	8788	DLK1	ORPHA:96334
HP:0000078	Abnormality of the genital system	55384	MEG3	ORPHA:96334
HP:0000078	Abnormality of the genital system	6638	SNRPN	ORPHA:98754
HP:0000078	Abnormality of the genital system	6638	SNRPN	ORPHA:177904
HP:0000078	Abnormality of the genital system	6638	SNRPN	ORPHA:177901
HP:0000078	Abnormality of the genital system	6638	SNRPN	ORPHA:177910
HP:0000078	Abnormality of the genital system	6638	SNRPN	ORPHA:177907
HP:0000078	Abnormality of the genital system	4692	NDN	ORPHA:98754
HP:0000078	Abnormality of the genital system	4692	NDN	ORPHA:177904
HP:0000078	Abnormality of the genital system	4692	NDN	ORPHA:177901
HP:0000078	Abnormality of the genital system	4692	NDN	ORPHA:177910
HP:0000078	Abnormality of the genital system	4948	OCA2	ORPHA:98754
HP:0000078	Abnormality of the genital system	4948	OCA2	ORPHA:177904
HP:0000078	Abnormality of the genital system	4948	OCA2	ORPHA:177901
HP:0000078	Abnormality of the genital system	5889	RAD51C	OMIM:613390
HP:0000078	Abnormality of the genital system	22930	RAB3GAP1	OMIM:600118
HP:0000078	Abnormality of the genital system	1968	EIF2S3	ORPHA:85282
HP:0000078	Abnormality of the genital system	284654	RSPO1	OMIM:610644
HP:0000078	Abnormality of the genital system	8813	DPM1	ORPHA:79322
HP:0000078	Abnormality of the genital system	84100	ARL6	OMIM:600151
HP:0000078	Abnormality of the genital system	54903	MKS1	OMIM:249000
HP:0000078	Abnormality of the genital system	583	BBS2	OMIM:615981
HP:0000078	Abnormality of the genital system	585	BBS4	OMIM:615982
HP:0000078	Abnormality of the genital system	129880	BBS5	OMIM:615983
HP:0000078	Abnormality of the genital system	55636	CHD7	OMIM:214800
HP:0000078	Abnormality of the genital system	1954	MEGF8	ORPHA:65759
HP:0000078	Abnormality of the genital system	8195	MKKS	OMIM:605231
HP:0000078	Abnormality of the genital system	64374	SIL1	ORPHA:559
HP:0000078	Abnormality of the genital system	51763	INPP5K	ORPHA:559
HP:0000078	Abnormality of the genital system	4089	SMAD4	ORPHA:2588
HP:0000078	Abnormality of the genital system	3187	HNRNPH1	OMIM:620083
HP:0000078	Abnormality of the genital system	57724	EPG5	OMIM:242840
HP:0000078	Abnormality of the genital system	10046	MAMLD1	ORPHA:456328
HP:0000078	Abnormality of the genital system	4534	MTM1	ORPHA:456328
HP:0000078	Abnormality of the genital system	2263	FGFR2	ORPHA:1555
HP:0000078	Abnormality of the genital system	2263	FGFR2	OMIM:123790
HP:0000078	Abnormality of the genital system	3643	INSR	ORPHA:508
HP:0000078	Abnormality of the genital system	5468	PPARG	ORPHA:528
HP:0000078	Abnormality of the genital system	10555	AGPAT2	ORPHA:528
HP:0000078	Abnormality of the genital system	284119	CAVIN1	ORPHA:528
HP:0000078	Abnormality of the genital system	26580	BSCL2	ORPHA:528
HP:0000078	Abnormality of the genital system	2353	FOS	ORPHA:528
HP:0000078	Abnormality of the genital system	857	CAV1	ORPHA:528
HP:0000078	Abnormality of the genital system	1028	CDKN1C	OMIM:130650
HP:0000078	Abnormality of the genital system	10984	KCNQ1OT1	OMIM:130650
HP:0000078	Abnormality of the genital system	3481	IGF2	OMIM:130650
HP:0000078	Abnormality of the genital system	3784	KCNQ1	OMIM:130650
HP:0000078	Abnormality of the genital system	7128	TNFAIP3	OMIM:616744
HP:0000078	Abnormality of the genital system	64421	DCLRE1C	OMIM:602450
HP:0000078	Abnormality of the genital system	5077	PAX3	OMIM:193500
HP:0000078	Abnormality of the genital system	374407	DNAJB13	OMIM:617091
HP:0000078	Abnormality of the genital system	374407	DNAJB13	ORPHA:244
HP:0000078	Abnormality of the genital system	139212	DNAAF6	OMIM:300991
HP:0000078	Abnormality of the genital system	139212	DNAAF6	ORPHA:244
HP:0000078	Abnormality of the genital system	84074	QRICH2	OMIM:618341
HP:0000078	Abnormality of the genital system	285498	RNF212	OMIM:619673
HP:0000078	Abnormality of the genital system	124404	SEPTIN12	OMIM:614822
HP:0000078	Abnormality of the genital system	11055	ZPBP	OMIM:619799
HP:0000078	Abnormality of the genital system	144132	DNHD1	OMIM:619712
HP:0000078	Abnormality of the genital system	83894	TTC29	OMIM:618745
HP:0000078	Abnormality of the genital system	8556	CDC14A	OMIM:608653
HP:0000078	Abnormality of the genital system	286464	CFAP47	OMIM:301059
HP:0000078	Abnormality of the genital system	83449	PMFBP1	OMIM:618112
HP:0000078	Abnormality of the genital system	83449	PMFBP1	ORPHA:529970
HP:0000078	Abnormality of the genital system	79925	SPEF2	OMIM:618751
HP:0000078	Abnormality of the genital system	79925	SPEF2	ORPHA:244
HP:0000078	Abnormality of the genital system	146845	CFAP52	OMIM:619607
HP:0000078	Abnormality of the genital system	2212	FCGR2A	OMIM:219700
HP:0000078	Abnormality of the genital system	286151	FBXO43	OMIM:619696
HP:0000078	Abnormality of the genital system	8632	DNAH17	OMIM:618643
HP:0000078	Abnormality of the genital system	140732	SUN5	ORPHA:529970
HP:0000078	Abnormality of the genital system	140732	SUN5	OMIM:617187
HP:0000078	Abnormality of the genital system	54970	TTC12	OMIM:618801
HP:0000078	Abnormality of the genital system	54970	TTC12	ORPHA:244
HP:0000078	Abnormality of the genital system	80726	IQCN	OMIM:620170
HP:0000078	Abnormality of the genital system	6691	SPINK2	OMIM:618091
HP:0000078	Abnormality of the genital system	22873	DZIP1	OMIM:619102
HP:0000078	Abnormality of the genital system	80705	TSGA10	OMIM:617961
HP:0000078	Abnormality of the genital system	122481	AK7	OMIM:617965
HP:0000078	Abnormality of the genital system	57728	WDR19	OMIM:619867
HP:0000078	Abnormality of the genital system	339829	CCDC39	OMIM:613807
HP:0000078	Abnormality of the genital system	339829	CCDC39	ORPHA:244
HP:0000078	Abnormality of the genital system	27019	DNAI1	OMIM:244400
HP:0000078	Abnormality of the genital system	27019	DNAI1	ORPHA:244
HP:0000078	Abnormality of the genital system	255101	CFAP65	OMIM:618664
HP:0000078	Abnormality of the genital system	25981	DNAH1	OMIM:617576
HP:0000078	Abnormality of the genital system	25981	DNAH1	ORPHA:244
HP:0000078	Abnormality of the genital system	199223	TTC21A	OMIM:618429
HP:0000078	Abnormality of the genital system	55329	MNS1	OMIM:618948
HP:0000078	Abnormality of the genital system	89869	PLCZ1	OMIM:617214
HP:0000078	Abnormality of the genital system	64446	DNAI2	OMIM:612444
HP:0000078	Abnormality of the genital system	64446	DNAI2	ORPHA:244
HP:0000078	Abnormality of the genital system	196385	DNAH10	OMIM:619515
HP:0000078	Abnormality of the genital system	54456	MOV10L1	OMIM:619878
HP:0000078	Abnormality of the genital system	92749	DRC1	OMIM:620222
HP:0000078	Abnormality of the genital system	92749	DRC1	ORPHA:244
HP:0000078	Abnormality of the genital system	84071	ARMC2	OMIM:618433
HP:0000078	Abnormality of the genital system	144406	CFAP251	OMIM:618152
HP:0000078	Abnormality of the genital system	401024	FSIP2	OMIM:618153
HP:0000078	Abnormality of the genital system	118491	CFAP70	OMIM:618670
HP:0000078	Abnormality of the genital system	84660	CCDC62	OMIM:619803
HP:0000078	Abnormality of the genital system	54919	DNAAF5	OMIM:614874
HP:0000078	Abnormality of the genital system	54919	DNAAF5	ORPHA:244
HP:0000078	Abnormality of the genital system	151254	C2CD6	OMIM:619805
HP:0000078	Abnormality of the genital system	145645	TERB2	OMIM:619645
HP:0000078	Abnormality of the genital system	283847	TERB1	OMIM:619646
HP:0000078	Abnormality of the genital system	85452	CFAP74	OMIM:620197
HP:0000078	Abnormality of the genital system	157855	KCNU1	OMIM:620196
HP:0000078	Abnormality of the genital system	146754	DNAH2	OMIM:619094
HP:0000078	Abnormality of the genital system	1769	DNAH8	OMIM:619095
HP:0000078	Abnormality of the genital system	55779	CFAP44	OMIM:617593
HP:0000078	Abnormality of the genital system	80217	CFAP43	OMIM:617592
HP:0000078	Abnormality of the genital system	284382	ACTL9	OMIM:619258
HP:0000078	Abnormality of the genital system	283417	DPY19L2	OMIM:613958
HP:0000078	Abnormality of the genital system	9247	GCM2	ORPHA:2239
HP:0000078	Abnormality of the genital system	115948	ODAD3	ORPHA:244
HP:0000078	Abnormality of the genital system	54768	HYDIN	ORPHA:244
HP:0000078	Abnormality of the genital system	352909	DNAAF3	ORPHA:244
HP:0000078	Abnormality of the genital system	27148	STK36	ORPHA:244
HP:0000078	Abnormality of the genital system	51314	NME8	ORPHA:244
HP:0000078	Abnormality of the genital system	152110	NEK10	ORPHA:244
HP:0000078	Abnormality of the genital system	2302	FOXJ1	ORPHA:244
HP:0000078	Abnormality of the genital system	221421	RSPH9	ORPHA:244
HP:0000078	Abnormality of the genital system	85478	CCDC65	ORPHA:244
HP:0000078	Abnormality of the genital system	55036	CCDC40	ORPHA:244
HP:0000078	Abnormality of the genital system	51364	ZMYND10	ORPHA:244
HP:0000078	Abnormality of the genital system	6674	SPAG1	ORPHA:244
HP:0000078	Abnormality of the genital system	83544	DNAL1	ORPHA:244
HP:0000078	Abnormality of the genital system	89765	RSPH1	ORPHA:244
HP:0000078	Abnormality of the genital system	83538	ODAD4	ORPHA:244
HP:0000078	Abnormality of the genital system	200373	CFAP221	ORPHA:244
HP:0000078	Abnormality of the genital system	55172	DNAAF2	ORPHA:244
HP:0000078	Abnormality of the genital system	161582	DNAAF4	ORPHA:244
HP:0000078	Abnormality of the genital system	2622	GAS8	ORPHA:244
HP:0000078	Abnormality of the genital system	23639	DNAAF11	ORPHA:244
HP:0000078	Abnormality of the genital system	23639	DNAAF11	OMIM:614935
HP:0000078	Abnormality of the genital system	345895	RSPH4A	ORPHA:244
HP:0000078	Abnormality of the genital system	388389	CCDC103	ORPHA:244
HP:0000078	Abnormality of the genital system	55130	ODAD2	ORPHA:244
HP:0000078	Abnormality of the genital system	1767	DNAH5	ORPHA:244
HP:0000078	Abnormality of the genital system	83861	RSPH3	ORPHA:244
HP:0000078	Abnormality of the genital system	345643	MCIDAS	ORPHA:244
HP:0000078	Abnormality of the genital system	56683	CFAP298	ORPHA:244
HP:0000078	Abnormality of the genital system	10309	CCNO	ORPHA:244
HP:0000078	Abnormality of the genital system	115399	LRRC56	ORPHA:244
HP:0000078	Abnormality of the genital system	123872	DNAAF1	ORPHA:244
HP:0000078	Abnormality of the genital system	85016	CFAP300	ORPHA:244
HP:0000078	Abnormality of the genital system	8701	DNAH11	ORPHA:244
HP:0000078	Abnormality of the genital system	246176	GAS2L2	ORPHA:244
HP:0000078	Abnormality of the genital system	200162	SPAG17	OMIM:619380
HP:0000078	Abnormality of the genital system	116369	SLC26A8	OMIM:606766
HP:0000078	Abnormality of the genital system	159686	CFAP58	OMIM:619144
HP:0000078	Abnormality of the genital system	199720	GGN	OMIM:619826
HP:0000078	Abnormality of the genital system	676	BRDT	OMIM:617644
HP:0000078	Abnormality of the genital system	158401	SHOC1	OMIM:619949
HP:0000078	Abnormality of the genital system	117144	CATSPER1	OMIM:612997
HP:0000078	Abnormality of the genital system	83893	SPATA16	OMIM:102530
HP:0000078	Abnormality of the genital system	8312	AXIN1	OMIM:607864
HP:0000078	Abnormality of the genital system	6650	CAPN15	OMIM:619318
HP:0000078	Abnormality of the genital system	356	FASLG	ORPHA:3261
HP:0000078	Abnormality of the genital system	5580	PRKCD	ORPHA:3261
HP:0000078	Abnormality of the genital system	843	CASP10	ORPHA:3261
HP:0000078	Abnormality of the genital system	10125	RASGRP1	ORPHA:3261
HP:0000078	Abnormality of the genital system	84570	COL25A1	ORPHA:91411
HP:0000078	Abnormality of the genital system	79776	ZFHX4	ORPHA:91411
HP:0000078	Abnormality of the genital system	57505	AARS2	OMIM:615889
HP:0000078	Abnormality of the genital system	11261	CHP1	OMIM:618438
HP:0000078	Abnormality of the genital system	8888	MCM3AP	OMIM:618124
HP:0000078	Abnormality of the genital system	51434	ANAPC7	OMIM:619699
HP:0000078	Abnormality of the genital system	55750	AGK	OMIM:212350
HP:0000078	Abnormality of the genital system	2583	B4GALNT1	ORPHA:101006
HP:0000078	Abnormality of the genital system	9657	IQCB1	ORPHA:3156
HP:0000078	Abnormality of the genital system	27130	INVS	ORPHA:3156
HP:0000078	Abnormality of the genital system	261734	NPHP4	ORPHA:3156
HP:0000078	Abnormality of the genital system	27031	NPHP3	ORPHA:3156
HP:0000078	Abnormality of the genital system	22897	CEP164	ORPHA:3156
HP:0000078	Abnormality of the genital system	2584	GALK1	ORPHA:79237
HP:0000078	Abnormality of the genital system	80185	TTI2	ORPHA:391307
HP:0000078	Abnormality of the genital system	283677	REC114	OMIM:619176
HP:0000078	Abnormality of the genital system	7784	ZP3	OMIM:617712
HP:0000078	Abnormality of the genital system	9453	GGPS1	OMIM:619518
HP:0000078	Abnormality of the genital system	22917	ZP1	OMIM:615774
HP:0000078	Abnormality of the genital system	150365	MEI1	OMIM:618431
HP:0000078	Abnormality of the genital system	79703	TOP6BL	OMIM:618432
HP:0000078	Abnormality of the genital system	431705	ASTL	OMIM:619643
HP:0000078	Abnormality of the genital system	79983	POF1B	OMIM:300604
HP:0000078	Abnormality of the genital system	7783	ZP2	OMIM:618353
HP:0000078	Abnormality of the genital system	79816	TLE6	OMIM:616814
HP:0000078	Abnormality of the genital system	5241	PGR	OMIM:264080
HP:0000078	Abnormality of the genital system	678	ZFP36L2	OMIM:620154
HP:0000078	Abnormality of the genital system	27235	COQ2	ORPHA:227510
HP:0000078	Abnormality of the genital system	27235	COQ2	ORPHA:98933
HP:0000078	Abnormality of the genital system	4001	LMNB1	OMIM:169500
HP:0000078	Abnormality of the genital system	3476	IGBP1	OMIM:300472
HP:0000078	Abnormality of the genital system	55610	VPS50	OMIM:619685
HP:0000078	Abnormality of the genital system	50485	SMARCAL1	OMIM:242900
HP:0000078	Abnormality of the genital system	10667	FARS2	ORPHA:466722
HP:0000078	Abnormality of the genital system	5648	MASP1	ORPHA:293843
HP:0000078	Abnormality of the genital system	5147	PDE6D	ORPHA:2754
HP:0000078	Abnormality of the genital system	65250	CPLANE1	ORPHA:2754
HP:0000078	Abnormality of the genital system	317662	FAM149B1	ORPHA:2754
HP:0000078	Abnormality of the genital system	22884	WDR37	OMIM:618652
HP:0000078	Abnormality of the genital system	4174	MCM5	OMIM:617564
HP:0000078	Abnormality of the genital system	4081	MAB21L1	OMIM:618479
HP:0000078	Abnormality of the genital system	79796	ALG9	ORPHA:79328
HP:0000078	Abnormality of the genital system	23395	LARS2	OMIM:615300
HP:0000078	Abnormality of the genital system	3763	KCNJ6	ORPHA:435628
HP:0000078	Abnormality of the genital system	201134	CEP112	OMIM:619044
HP:0000078	Abnormality of the genital system	140801	RPL10L	OMIM:619689
HP:0000078	Abnormality of the genital system	3953	LEPR	ORPHA:179494
HP:0000078	Abnormality of the genital system	57704	GBA2	ORPHA:320391
HP:0000078	Abnormality of the genital system	5396	PRRX1	ORPHA:990
HP:0000078	Abnormality of the genital system	5048	PAFAH1B1	ORPHA:217385
HP:0000078	Abnormality of the genital system	7531	YWHAE	ORPHA:217385
HP:0000078	Abnormality of the genital system	2690	GHR	ORPHA:633
HP:0000078	Abnormality of the genital system	10606	PAICS	OMIM:619859
HP:0000078	Abnormality of the genital system	392255	GDF6	OMIM:613094
HP:0000078	Abnormality of the genital system	79577	CDC73	ORPHA:143
HP:0000078	Abnormality of the genital system	79577	CDC73	ORPHA:99880
HP:0000078	Abnormality of the genital system	9049	AIP	ORPHA:2965
HP:0000078	Abnormality of the genital system	7840	ALMS1	ORPHA:64
HP:0000078	Abnormality of the genital system	672	BRCA1	ORPHA:84
HP:0000078	Abnormality of the genital system	10459	MAD2L2	ORPHA:84
HP:0000078	Abnormality of the genital system	7516	XRCC2	ORPHA:84
HP:0000078	Abnormality of the genital system	29089	UBE2T	ORPHA:84
HP:0000078	Abnormality of the genital system	675	BRCA2	ORPHA:84
HP:0000078	Abnormality of the genital system	55120	FANCL	ORPHA:84
HP:0000078	Abnormality of the genital system	2177	FANCD2	ORPHA:84
HP:0000078	Abnormality of the genital system	2175	FANCA	ORPHA:84
HP:0000078	Abnormality of the genital system	2187	FANCB	ORPHA:84
HP:0000078	Abnormality of the genital system	2176	FANCC	ORPHA:84
HP:0000078	Abnormality of the genital system	2178	FANCE	ORPHA:84
HP:0000078	Abnormality of the genital system	2188	FANCF	ORPHA:84
HP:0000078	Abnormality of the genital system	2189	FANCG	ORPHA:84
HP:0000078	Abnormality of the genital system	5888	RAD51	ORPHA:84
HP:0000078	Abnormality of the genital system	55159	RFWD3	ORPHA:84
HP:0000078	Abnormality of the genital system	83990	BRIP1	ORPHA:84
HP:0000078	Abnormality of the genital system	57697	FANCM	ORPHA:84
HP:0000078	Abnormality of the genital system	79728	PALB2	ORPHA:84
HP:0000078	Abnormality of the genital system	84464	SLX4	ORPHA:84
HP:0000078	Abnormality of the genital system	2072	ERCC4	ORPHA:84
HP:0000078	Abnormality of the genital system	55215	FANCI	ORPHA:84
HP:0000078	Abnormality of the genital system	4292	MLH1	ORPHA:587
HP:0000078	Abnormality of the genital system	2956	MSH6	ORPHA:587
HP:0000078	Abnormality of the genital system	2956	MSH6	OMIM:614350
HP:0000078	Abnormality of the genital system	2956	MSH6	OMIM:608089
HP:0000078	Abnormality of the genital system	4436	MSH2	ORPHA:587
HP:0000078	Abnormality of the genital system	388662	SLC6A17	ORPHA:457212
HP:0000078	Abnormality of the genital system	5424	POLD1	OMIM:612591
HP:0000078	Abnormality of the genital system	5424	POLD1	ORPHA:447877
HP:0000078	Abnormality of the genital system	4072	EPCAM	OMIM:613244
HP:0000078	Abnormality of the genital system	5395	PMS2	OMIM:614337
HP:0000078	Abnormality of the genital system	27030	MLH3	OMIM:608089
HP:0000078	Abnormality of the genital system	5892	RAD51D	ORPHA:145
HP:0000078	Abnormality of the genital system	10111	RAD50	ORPHA:145
HP:0000078	Abnormality of the genital system	580	BARD1	ORPHA:145
HP:0000078	Abnormality of the genital system	4683	NBN	ORPHA:145
HP:0000078	Abnormality of the genital system	4361	MRE11	ORPHA:145
HP:0000078	Abnormality of the genital system	11200	CHEK2	ORPHA:145
HP:0000078	Abnormality of the genital system	11200	CHEK2	OMIM:176807
HP:0000078	Abnormality of the genital system	11200	CHEK2	ORPHA:524
HP:0000078	Abnormality of the genital system	2048	EPHB2	OMIM:603688
HP:0000078	Abnormality of the genital system	463	ZFHX3	OMIM:176807
HP:0000078	Abnormality of the genital system	1316	KLF6	OMIM:176807
HP:0000078	Abnormality of the genital system	999	CDH1	OMIM:176807
HP:0000078	Abnormality of the genital system	4601	MXI1	OMIM:176807
HP:0000078	Abnormality of the genital system	8379	MAD1L1	OMIM:176807
HP:0000078	Abnormality of the genital system	54894	RNF43	ORPHA:157798
HP:0000078	Abnormality of the genital system	6041	RNASEL	OMIM:601518
HP:0000078	Abnormality of the genital system	26585	GREM1	ORPHA:157794
HP:0000078	Abnormality of the genital system	657	BMPR1A	ORPHA:157794
HP:0000078	Abnormality of the genital system	2304	FOXE1	OMIM:616534
HP:0000078	Abnormality of the genital system	4665	NAB2	ORPHA:2126
HP:0000078	Abnormality of the genital system	6778	STAT6	ORPHA:2126
HP:0000078	Abnormality of the genital system	4913	NTHL1	OMIM:616415
HP:0000078	Abnormality of the genital system	324	APC	ORPHA:79665
HP:0000078	Abnormality of the genital system	7373	COL14A1	ORPHA:79501
HP:0000078	Abnormality of the genital system	79719	AAGAB	ORPHA:79501
HP:0000078	Abnormality of the genital system	4193	MDM2	ORPHA:524
HP:0000078	Abnormality of the genital system	51726	DNAJB11	ORPHA:730
HP:0000078	Abnormality of the genital system	23193	GANAB	ORPHA:730
HP:0000078	Abnormality of the genital system	5310	PKD1	ORPHA:730
HP:0000078	Abnormality of the genital system	5311	PKD2	ORPHA:730
HP:0000078	Abnormality of the genital system	29880	ALG5	ORPHA:730
HP:0000078	Abnormality of the genital system	80114	BICC1	ORPHA:730
HP:0000078	Abnormality of the genital system	755	CFAP410	OMIM:602271
HP:0000078	Abnormality of the genital system	79846	CFAP69	OMIM:617959
HP:0000078	Abnormality of the genital system	56244	BTNL2	ORPHA:797
HP:0000078	Abnormality of the genital system	3123	HLA-DRB1	ORPHA:797
HP:0000078	Abnormality of the genital system	10165	SLC25A13	ORPHA:247585
HP:0000078	Abnormality of the genital system	51574	LARP7	OMIM:615071
HP:0000078	Abnormality of the genital system	6904	TBCD	OMIM:617193
HP:0000078	Abnormality of the genital system	64132	XYLT2	OMIM:605822
HP:0000078	Abnormality of the genital system	104	ADARB1	OMIM:618862
HP:0000078	Abnormality of the genital system	4781	NFIB	OMIM:618286
HP:0000078	Abnormality of the genital system	83479	DDX59	OMIM:174300
HP:0000078	Abnormality of the genital system	84282	RNF135	ORPHA:137634
HP:0000078	Abnormality of the genital system	56983	POGLUT1	ORPHA:79145
HP:0000078	Abnormality of the genital system	3852	KRT5	ORPHA:79145
HP:0000078	Abnormality of the genital system	23509	POFUT1	ORPHA:79145
HP:0000078	Abnormality of the genital system	55851	PSENEN	ORPHA:79145
HP:0000078	Abnormality of the genital system	2947	GSTM3	ORPHA:586
HP:0000078	Abnormality of the genital system	2729	GCLC	ORPHA:586
HP:0000078	Abnormality of the genital system	1084	CEACAM3	ORPHA:586
HP:0000078	Abnormality of the genital system	6556	SLC11A1	ORPHA:586
HP:0000078	Abnormality of the genital system	51164	DCTN4	ORPHA:586
HP:0000078	Abnormality of the genital system	3783	KCNN4	ORPHA:586
HP:0000078	Abnormality of the genital system	4282	MIF	ORPHA:586
HP:0000078	Abnormality of the genital system	1909	EDNRA	ORPHA:586
HP:0000078	Abnormality of the genital system	6550	SLC9A3	ORPHA:586
HP:0000078	Abnormality of the genital system	3162	HMOX1	ORPHA:586
HP:0000078	Abnormality of the genital system	115019	SLC26A9	ORPHA:586
HP:0000078	Abnormality of the genital system	11254	SLC6A14	ORPHA:586
HP:0000078	Abnormality of the genital system	5265	SERPINA1	ORPHA:586
HP:0000078	Abnormality of the genital system	22802	CLCA4	ORPHA:586
HP:0000078	Abnormality of the genital system	4680	CEACAM6	ORPHA:586
HP:0000078	Abnormality of the genital system	1621	DBH	ORPHA:230
HP:0000078	Abnormality of the genital system	1621	DBH	OMIM:223360
HP:0000078	Abnormality of the genital system	285282	RABL3	ORPHA:1333
HP:0000078	Abnormality of the genital system	23022	PALLD	ORPHA:1333
HP:0000078	Abnormality of the genital system	1294	COL7A1	ORPHA:79409
HP:0000078	Abnormality of the genital system	6795	AURKC	OMIM:243060
HP:0000078	Abnormality of the genital system	89876	CFAP91	OMIM:619177
HP:0000078	Abnormality of the genital system	56246	MRAP	ORPHA:361
HP:0000078	Abnormality of the genital system	6770	STAR	ORPHA:361
HP:0000078	Abnormality of the genital system	4158	MC2R	ORPHA:361
HP:0000078	Abnormality of the genital system	23530	NNT	ORPHA:361
HP:0000078	Abnormality of the genital system	10587	TXNRD2	ORPHA:361
HP:0000078	Abnormality of the genital system	57514	ARHGAP31	OMIM:100300
HP:0000078	Abnormality of the genital system	10320	IKZF1	ORPHA:36426
HP:0000078	Abnormality of the genital system	1235	CCR6	ORPHA:220393
HP:0000078	Abnormality of the genital system	1490	CCN2	ORPHA:220393
HP:0000078	Abnormality of the genital system	3663	IRF5	ORPHA:220393
HP:0000078	Abnormality of the genital system	1288	COL4A6	ORPHA:1018
HP:0000078	Abnormality of the genital system	1287	COL4A5	ORPHA:1018
HP:0000078	Abnormality of the genital system	81704	DOCK8	ORPHA:217390
HP:0000078	Abnormality of the genital system	7428	VHL	ORPHA:892
HP:0000078	Abnormality of the genital system	7428	VHL	OMIM:193300
HP:0000078	Abnormality of the genital system	595	CCND1	ORPHA:892
HP:0000078	Abnormality of the genital system	595	CCND1	OMIM:193300
HP:0000078	Abnormality of the genital system	10847	SRCAP	ORPHA:2044
HP:0000078	Abnormality of the genital system	10847	SRCAP	OMIM:136140
HP:0000078	Abnormality of the genital system	3110	MNX1	ORPHA:1552
HP:0000078	Abnormality of the genital system	26040	SETBP1	OMIM:269150
HP:0000078	Abnormality of the genital system	26040	SETBP1	ORPHA:798
HP:0000078	Abnormality of the genital system	64324	NSD1	ORPHA:821
HP:0000078	Abnormality of the genital system	29072	SETD2	ORPHA:821
HP:0000078	Abnormality of the genital system	10297	APC2	ORPHA:821
HP:0000078	Abnormality of the genital system	26123	TCTN3	ORPHA:2753
HP:0000078	Abnormality of the genital system	10388	SYCP2	OMIM:258150
HP:0000078	Abnormality of the genital system	375307	CATIP	OMIM:619379
HP:0000078	Abnormality of the genital system	254528	MEIOB	OMIM:617706
HP:0000078	Abnormality of the genital system	2516	NR5A1	OMIM:613957
HP:0000078	Abnormality of the genital system	56154	TEX15	OMIM:617960
HP:0000078	Abnormality of the genital system	122402	TDRD9	OMIM:618110
HP:0000078	Abnormality of the genital system	23405	DICER1	OMIM:180295
HP:0000078	Abnormality of the genital system	6928	HNF1B	OMIM:137920
HP:0000078	Abnormality of the genital system	24145	PANX1	ORPHA:488191
HP:0000078	Abnormality of the genital system	494551	WEE2	ORPHA:488191
HP:0000078	Abnormality of the genital system	197135	PATL2	ORPHA:488191
HP:0000078	Abnormality of the genital system	347688	TUBB8	ORPHA:488191
HP:0000078	Abnormality of the genital system	79798	ARMC5	ORPHA:189427
HP:0000078	Abnormality of the genital system	2778	GNAS	ORPHA:189427
HP:0000078	Abnormality of the genital system	3064	HTT	ORPHA:399
HP:0000078	Abnormality of the genital system	6515	SLC2A3	ORPHA:399
HP:0000078	Abnormality of the genital system	5566	PRKACA	ORPHA:189439
HP:0000078	Abnormality of the genital system	8622	PDE8B	ORPHA:189439
HP:0000078	Abnormality of the genital system	50940	PDE11A	ORPHA:189439
HP:0000078	Abnormality of the genital system	84196	USP48	ORPHA:96253
HP:0000078	Abnormality of the genital system	9101	USP8	ORPHA:96253
HP:0000078	Abnormality of the genital system	64072	CDH23	ORPHA:96253
HP:0000078	Abnormality of the genital system	2908	NR3C1	ORPHA:96253
HP:0000078	Abnormality of the genital system	673	BRAF	ORPHA:96253
HP:0000078	Abnormality of the genital system	546	ATRX	ORPHA:96253
HP:0000078	Abnormality of the genital system	8930	MBD4	OMIM:619975
HP:0000078	Abnormality of the genital system	2624	GATA2	OMIM:614172
HP:0000078	Abnormality of the genital system	135935	NOBOX	OMIM:611548
HP:0000078	Abnormality of the genital system	9075	CLDN2	OMIM:301060
HP:0000078	Abnormality of the genital system	25790	CFAP45	OMIM:619608
HP:0000078	Abnormality of the genital system	4221	MEN1	ORPHA:652
HP:0000078	Abnormality of the genital system	1027	CDKN1B	ORPHA:652
HP:0000078	Abnormality of the genital system	1026	CDKN1A	ORPHA:652
HP:0000078	Abnormality of the genital system	1030	CDKN2B	ORPHA:652
HP:0000078	Abnormality of the genital system	1031	CDKN2C	ORPHA:652
HP:0000078	Abnormality of the genital system	367	AR	ORPHA:90797
HP:0000078	Abnormality of the genital system	6253	RTN2	ORPHA:100993
HP:0000078	Abnormality of the genital system	51271	UBAP1	ORPHA:100993
HP:0000078	Abnormality of the genital system	54832	VPS13C	ORPHA:2828
HP:0000078	Abnormality of the genital system	11315	PARK7	ORPHA:2828
HP:0000078	Abnormality of the genital system	7345	UCHL1	ORPHA:2828
HP:0000078	Abnormality of the genital system	27429	HTRA2	ORPHA:2828
HP:0000078	Abnormality of the genital system	120892	LRRK2	ORPHA:2828
HP:0000078	Abnormality of the genital system	9829	DNAJC6	ORPHA:2828
HP:0000078	Abnormality of the genital system	6622	SNCA	ORPHA:2828
HP:0000078	Abnormality of the genital system	5420	PODXL	ORPHA:2828
HP:0000078	Abnormality of the genital system	65018	PINK1	ORPHA:2828
HP:0000078	Abnormality of the genital system	8867	SYNJ1	ORPHA:2828
HP:0000078	Abnormality of the genital system	5071	PRKN	ORPHA:2828
HP:0000078	Abnormality of the genital system	215	ABCD1	ORPHA:139399
HP:0000078	Abnormality of the genital system	6774	STAT3	ORPHA:520
HP:0000078	Abnormality of the genital system	5371	PML	ORPHA:520
HP:0000078	Abnormality of the genital system	5914	RARA	ORPHA:520
HP:0000078	Abnormality of the genital system	359948	IRF2BP2	ORPHA:520
HP:0000078	Abnormality of the genital system	81608	FIP1L1	ORPHA:520
HP:0000078	Abnormality of the genital system	64859	NABP1	ORPHA:520
HP:0000078	Abnormality of the genital system	6777	STAT5B	ORPHA:520
HP:0000078	Abnormality of the genital system	4926	NUMA1	ORPHA:520
HP:0000078	Abnormality of the genital system	7704	ZBTB16	ORPHA:520
HP:0000078	Abnormality of the genital system	11234	HPS5	OMIM:614074
HP:0000078	Abnormality of the genital system	2153	F5	ORPHA:326
HP:0000078	Abnormality of the genital system	22909	FAN1	ORPHA:144
HP:0000078	Abnormality of the genital system	5378	PMS1	ORPHA:144
HP:0000078	Abnormality of the genital system	80326	WNT10A	ORPHA:50944
HP:0000078	Abnormality of the genital system	2130	EWSR1	ORPHA:83469
HP:0000078	Abnormality of the genital system	65998	ZFTA	ORPHA:251636
HP:0000078	Abnormality of the genital system	5970	RELA	ORPHA:251636
HP:0000078	Abnormality of the genital system	3418	IDH2	ORPHA:163634
HP:0000078	Abnormality of the genital system	3417	IDH1	ORPHA:163634
HP:0000078	Abnormality of the genital system	10734	STAG3	OMIM:615723
HP:0000078	Abnormality of the genital system	161742	SPRED1	ORPHA:137605
HP:0000078	Abnormality of the genital system	9817	KEAP1	ORPHA:276399
HP:0000078	Abnormality of the genital system	4978	OPCML	OMIM:167000
HP:0000078	Abnormality of the genital system	2064	ERBB2	OMIM:167000
HP:0000078	Abnormality of the genital system	79827	CLMP	ORPHA:2301
HP:0000078	Abnormality of the genital system	2767	GNA11	ORPHA:1556
HP:0000078	Abnormality of the genital system	151188	ARL6IP6	ORPHA:1556
HP:0000078	Abnormality of the genital system	2581	GALC	ORPHA:206448
HP:0000078	Abnormality of the genital system	3662	IRF4	ORPHA:3452
HP:0000078	Abnormality of the genital system	2271	FH	ORPHA:523
HP:0000078	Abnormality of the genital system	1281	COL3A1	OMIM:130050
HP:0000078	Abnormality of the genital system	1281	COL3A1	ORPHA:286
HP:0000078	Abnormality of the genital system	7046	TGFBR1	ORPHA:60030
HP:0000078	Abnormality of the genital system	10526	IPO8	ORPHA:60030
HP:0000078	Abnormality of the genital system	7048	TGFBR2	ORPHA:60030
HP:0000078	Abnormality of the genital system	4693	NDP	ORPHA:649
HP:0000078	Abnormality of the genital system	4210	MEFV	ORPHA:342
HP:0000078	Abnormality of the genital system	4210	MEFV	OMIM:249100
HP:0000078	Abnormality of the genital system	4210	MEFV	ORPHA:117
HP:0000078	Abnormality of the genital system	7132	TNFRSF1A	ORPHA:32960
HP:0000078	Abnormality of the genital system	149233	IL23R	ORPHA:117
HP:0000078	Abnormality of the genital system	6775	STAT4	ORPHA:117
HP:0000078	Abnormality of the genital system	3586	IL10	ORPHA:117
HP:0000078	Abnormality of the genital system	1230	CCR1	ORPHA:117
HP:0000078	Abnormality of the genital system	355	FAS	ORPHA:117
HP:0000078	Abnormality of the genital system	3592	IL12A	ORPHA:117
HP:0000078	Abnormality of the genital system	101928376	IL12A-AS1	ORPHA:117
HP:0000078	Abnormality of the genital system	3106	HLA-B	ORPHA:117
HP:0000078	Abnormality of the genital system	7099	TLR4	ORPHA:117
HP:0000078	Abnormality of the genital system	3459	IFNGR1	ORPHA:117
HP:0000078	Abnormality of the genital system	720	C4A	ORPHA:117
HP:0000078	Abnormality of the genital system	337867	UBAC2	ORPHA:117
HP:0000078	Abnormality of the genital system	51752	ERAP1	ORPHA:117
HP:0000078	Abnormality of the genital system	8302	KLRC4	ORPHA:117
HP:0000078	Abnormality of the genital system	11285	B4GALT7	ORPHA:75496
HP:0000078	Abnormality of the genital system	3339	HSPG2	ORPHA:800
HP:0000078	Abnormality of the genital system	2243	FGA	ORPHA:98880
HP:0000078	Abnormality of the genital system	2244	FGB	ORPHA:98880
HP:0000078	Abnormality of the genital system	2266	FGG	ORPHA:98880
HP:0000078	Abnormality of the genital system	3674	ITGA2B	ORPHA:849
HP:0000078	Abnormality of the genital system	3690	ITGB3	ORPHA:849
HP:0000079	Abnormality of the urinary system	49855	SCAPER	ORPHA:110
HP:0000079	Abnormality of the urinary system	51057	WDPCP	ORPHA:110
HP:0000079	Abnormality of the urinary system	84984	CEP19	ORPHA:110
HP:0000079	Abnormality of the urinary system	583	BBS2	ORPHA:110
HP:0000079	Abnormality of the urinary system	55212	BBS7	ORPHA:110
HP:0000079	Abnormality of the urinary system	129880	BBS5	ORPHA:110
HP:0000079	Abnormality of the urinary system	80173	IFT74	ORPHA:110
HP:0000079	Abnormality of the urinary system	340419	RSPO2	ORPHA:3301
HP:0000079	Abnormality of the urinary system	11041	B4GAT1	OMIM:615287
HP:0000079	Abnormality of the urinary system	151188	ARL6IP6	ORPHA:1556
HP:0000079	Abnormality of the urinary system	139285	AMER1	OMIM:300373
HP:0000079	Abnormality of the urinary system	3978	LIG1	OMIM:619774
HP:0000079	Abnormality of the urinary system	64359	NXN	ORPHA:1507
HP:0000079	Abnormality of the urinary system	2313	FLI1	ORPHA:2308
HP:0000079	Abnormality of the urinary system	695	BTK	OMIM:300755
HP:0000079	Abnormality of the urinary system	695	BTK	OMIM:307200
HP:0000079	Abnormality of the urinary system	4860	PNP	OMIM:613179
HP:0000079	Abnormality of the urinary system	113235	SLC46A1	ORPHA:90045
HP:0000079	Abnormality of the urinary system	4125	MAN2B1	ORPHA:309282
HP:0000079	Abnormality of the urinary system	613	BCR	ORPHA:261330
HP:0000079	Abnormality of the urinary system	1399	CRKL	ORPHA:261330
HP:0000079	Abnormality of the urinary system	4478	MSN	OMIM:300988
HP:0000079	Abnormality of the urinary system	3560	IL2RB	OMIM:618495
HP:0000079	Abnormality of the urinary system	84818	IL17RC	ORPHA:1334
HP:0000079	Abnormality of the urinary system	64581	CLEC7A	ORPHA:1334
HP:0000079	Abnormality of the urinary system	23765	IL17RA	ORPHA:1334
HP:0000079	Abnormality of the urinary system	10758	TRAF3IP2	ORPHA:1334
HP:0000079	Abnormality of the urinary system	112744	IL17F	ORPHA:1334
HP:0000079	Abnormality of the urinary system	1380	CR2	OMIM:614699
HP:0000079	Abnormality of the urinary system	6304	SATB1	OMIM:619229
HP:0000079	Abnormality of the urinary system	8883	NAE1	OMIM:620210
HP:0000079	Abnormality of the urinary system	84265	POLR3GL	OMIM:619234
HP:0000079	Abnormality of the urinary system	4261	CIITA	OMIM:209920
HP:0000079	Abnormality of the urinary system	5994	RFXAP	OMIM:209920
HP:0000079	Abnormality of the urinary system	5993	RFX5	OMIM:209920
HP:0000079	Abnormality of the urinary system	8625	RFXANK	OMIM:209920
HP:0000079	Abnormality of the urinary system	10056	FARSB	OMIM:613658
HP:0000079	Abnormality of the urinary system	8936	WASF1	OMIM:618707
HP:0000079	Abnormality of the urinary system	5971	RELB	OMIM:617585
HP:0000079	Abnormality of the urinary system	10293	TRAIP	OMIM:616777
HP:0000079	Abnormality of the urinary system	9562	MINPP1	OMIM:619527
HP:0000079	Abnormality of the urinary system	5294	PIK3CG	OMIM:619802
HP:0000079	Abnormality of the urinary system	55343	SLC35C1	ORPHA:99843
HP:0000079	Abnormality of the urinary system	7994	KAT6A	OMIM:616268
HP:0000079	Abnormality of the urinary system	3514	IGKC	ORPHA:183675
HP:0000079	Abnormality of the urinary system	3501	IGHG2	ORPHA:183675
HP:0000079	Abnormality of the urinary system	641	BLM	ORPHA:125
HP:0000079	Abnormality of the urinary system	92935	MARS2	OMIM:611390
HP:0000079	Abnormality of the urinary system	55823	VPS11	OMIM:616683
HP:0000079	Abnormality of the urinary system	55823	VPS11	ORPHA:466934
HP:0000079	Abnormality of the urinary system	400916	CHCHD10	OMIM:615911
HP:0000079	Abnormality of the urinary system	4287	ATXN3	ORPHA:276244
HP:0000079	Abnormality of the urinary system	4287	ATXN3	ORPHA:276241
HP:0000079	Abnormality of the urinary system	4287	ATXN3	ORPHA:276238
HP:0000079	Abnormality of the urinary system	51112	TRAPPC12	ORPHA:500144
HP:0000079	Abnormality of the urinary system	51112	TRAPPC12	OMIM:617669
HP:0000079	Abnormality of the urinary system	2050	EPHB4	ORPHA:137667
HP:0000079	Abnormality of the urinary system	23499	MACF1	ORPHA:572013
HP:0000079	Abnormality of the urinary system	387119	CEP85L	ORPHA:572013
HP:0000079	Abnormality of the urinary system	1185	CLCN6	OMIM:619173
HP:0000079	Abnormality of the urinary system	64834	ELOVL1	OMIM:618527
HP:0000079	Abnormality of the urinary system	123263	MTFMT	OMIM:618248
HP:0000079	Abnormality of the urinary system	2019	EN1	OMIM:619218
HP:0000079	Abnormality of the urinary system	2697	GJA1	ORPHA:2710
HP:0000079	Abnormality of the urinary system	2697	GJA1	OMIM:164200
HP:0000079	Abnormality of the urinary system	3980	LIG3	OMIM:619780
HP:0000079	Abnormality of the urinary system	25793	FBXO7	ORPHA:171695
HP:0000079	Abnormality of the urinary system	55331	ACER3	OMIM:617762
HP:0000079	Abnormality of the urinary system	87178	PNPT1	ORPHA:101111
HP:0000079	Abnormality of the urinary system	87178	PNPT1	OMIM:608703
HP:0000079	Abnormality of the urinary system	65018	PINK1	OMIM:605909
HP:0000079	Abnormality of the urinary system	478	ATP1A3	OMIM:601338
HP:0000079	Abnormality of the urinary system	9442	MED27	OMIM:619286
HP:0000079	Abnormality of the urinary system	27102	EIF2AK1	OMIM:618878
HP:0000079	Abnormality of the urinary system	3839	KPNA3	ORPHA:171612
HP:0000079	Abnormality of the urinary system	84842	HPDL	OMIM:619027
HP:0000079	Abnormality of the urinary system	65055	REEP1	OMIM:610250
HP:0000079	Abnormality of the urinary system	1200	TPP1	OMIM:609270
HP:0000079	Abnormality of the urinary system	2783	GNB2	OMIM:619503
HP:0000079	Abnormality of the urinary system	2747	GLUD2	OMIM:168600
HP:0000079	Abnormality of the urinary system	126	ADH1C	OMIM:168600
HP:0000079	Abnormality of the urinary system	4137	MAPT	OMIM:168600
HP:0000079	Abnormality of the urinary system	4929	NR4A2	OMIM:168600
HP:0000079	Abnormality of the urinary system	9627	SNCAIP	OMIM:168600
HP:0000079	Abnormality of the urinary system	595	CCND1	ORPHA:29073
HP:0000079	Abnormality of the urinary system	11160	ERLIN2	ORPHA:247604
HP:0000079	Abnormality of the urinary system	1277	COL1A1	ORPHA:287
HP:0000079	Abnormality of the urinary system	1289	COL5A1	ORPHA:287
HP:0000079	Abnormality of the urinary system	1290	COL5A2	ORPHA:287
HP:0000079	Abnormality of the urinary system	538	ATP7A	ORPHA:565
HP:0000079	Abnormality of the urinary system	538	ATP7A	ORPHA:198
HP:0000079	Abnormality of the urinary system	538	ATP7A	OMIM:304150
HP:0000079	Abnormality of the urinary system	5351	PLOD1	OMIM:225400
HP:0000079	Abnormality of the urinary system	1278	COL1A2	OMIM:617821
HP:0000079	Abnormality of the urinary system	55033	FKBP14	OMIM:614557
HP:0000079	Abnormality of the urinary system	816	CAMK2B	OMIM:617799
HP:0000079	Abnormality of the urinary system	100134444	KCNJ18	ORPHA:79102
HP:0000079	Abnormality of the urinary system	2556	GABRA3	ORPHA:79102
HP:0000079	Abnormality of the urinary system	779	CACNA1S	ORPHA:79102
HP:0000079	Abnormality of the urinary system	3431	SP110	ORPHA:79124
HP:0000079	Abnormality of the urinary system	7040	TGFB1	ORPHA:1328
HP:0000079	Abnormality of the urinary system	5621	PRNP	OMIM:600072
HP:0000079	Abnormality of the urinary system	4665	NAB2	ORPHA:2126
HP:0000079	Abnormality of the urinary system	6778	STAT6	ORPHA:2126
HP:0000079	Abnormality of the urinary system	4001	LMNB1	ORPHA:99027
HP:0000079	Abnormality of the urinary system	291	SLC25A4	ORPHA:254892
HP:0000079	Abnormality of the urinary system	56652	TWNK	ORPHA:254892
HP:0000079	Abnormality of the urinary system	11232	POLG2	ORPHA:254892
HP:0000079	Abnormality of the urinary system	8398	PLA2G6	OMIM:612953
HP:0000079	Abnormality of the urinary system	1621	DBH	ORPHA:230
HP:0000079	Abnormality of the urinary system	1621	DBH	OMIM:223360
HP:0000079	Abnormality of the urinary system	55906	ZC4H2	OMIM:301041
HP:0000079	Abnormality of the urinary system	6513	SLC2A1	ORPHA:64280
HP:0000079	Abnormality of the urinary system	2562	GABRB3	ORPHA:64280
HP:0000079	Abnormality of the urinary system	2554	GABRA1	ORPHA:64280
HP:0000079	Abnormality of the urinary system	8912	CACNA1H	ORPHA:64280
HP:0000079	Abnormality of the urinary system	8629	JRK	ORPHA:64280
HP:0000079	Abnormality of the urinary system	2566	GABRG2	ORPHA:64280
HP:0000079	Abnormality of the urinary system	23394	ADNP	ORPHA:404448
HP:0000079	Abnormality of the urinary system	10466	COG5	ORPHA:263487
HP:0000079	Abnormality of the urinary system	340533	NEXMIF	OMIM:300912
HP:0000079	Abnormality of the urinary system	23345	SYNE1	ORPHA:88644
HP:0000079	Abnormality of the urinary system	123606	NIPA1	ORPHA:100988
HP:0000079	Abnormality of the urinary system	123606	NIPA1	OMIM:600363
HP:0000079	Abnormality of the urinary system	23446	SLC44A1	OMIM:618868
HP:0000079	Abnormality of the urinary system	59341	TRPV4	OMIM:606071
HP:0000079	Abnormality of the urinary system	22880	MORC2	OMIM:616688
HP:0000079	Abnormality of the urinary system	22880	MORC2	ORPHA:466768
HP:0000079	Abnormality of the urinary system	57704	GBA2	ORPHA:352641
HP:0000079	Abnormality of the urinary system	57704	GBA2	ORPHA:320391
HP:0000079	Abnormality of the urinary system	57704	GBA2	OMIM:614409
HP:0000079	Abnormality of the urinary system	1786	DNMT1	ORPHA:314404
HP:0000079	Abnormality of the urinary system	4803	NGF	OMIM:608654
HP:0000079	Abnormality of the urinary system	57216	VANGL2	OMIM:182940
HP:0000079	Abnormality of the urinary system	6347	CCL2	OMIM:182940
HP:0000079	Abnormality of the urinary system	6862	TBXT	OMIM:182940
HP:0000079	Abnormality of the urinary system	274	BIN1	ORPHA:169189
HP:0000079	Abnormality of the urinary system	64419	MTMR14	ORPHA:169189
HP:0000079	Abnormality of the urinary system	4618	MYF6	ORPHA:169189
HP:0000079	Abnormality of the urinary system	1785	DNM2	ORPHA:169189
HP:0000079	Abnormality of the urinary system	6261	RYR1	ORPHA:169189
HP:0000079	Abnormality of the urinary system	5660	PSAP	OMIM:249900
HP:0000079	Abnormality of the urinary system	5660	PSAP	ORPHA:309271
HP:0000079	Abnormality of the urinary system	5660	PSAP	ORPHA:309263
HP:0000079	Abnormality of the urinary system	5660	PSAP	ORPHA:309256
HP:0000079	Abnormality of the urinary system	3074	HEXB	ORPHA:309162
HP:0000079	Abnormality of the urinary system	3074	HEXB	OMIM:268800
HP:0000079	Abnormality of the urinary system	10479	SLC9A6	OMIM:300243
HP:0000079	Abnormality of the urinary system	81790	RNF170	OMIM:619686
HP:0000079	Abnormality of the urinary system	25814	ATXN10	OMIM:603516
HP:0000079	Abnormality of the urinary system	6311	ATXN2	OMIM:183090
HP:0000079	Abnormality of the urinary system	6335	SCN9A	OMIM:243000
HP:0000079	Abnormality of the urinary system	8878	SQSTM1	OMIM:617145
HP:0000079	Abnormality of the urinary system	5610	EIF2AK2	OMIM:618877
HP:0000079	Abnormality of the urinary system	128486	FITM2	OMIM:618635
HP:0000079	Abnormality of the urinary system	2581	GALC	ORPHA:206448
HP:0000079	Abnormality of the urinary system	3508	IGHMBP2	OMIM:604320
HP:0000079	Abnormality of the urinary system	100996717	NOTCH2NLC	OMIM:603472
HP:0000079	Abnormality of the urinary system	6904	TBCD	ORPHA:496641
HP:0000079	Abnormality of the urinary system	6904	TBCD	OMIM:617193
HP:0000079	Abnormality of the urinary system	90161	HS6ST2	OMIM:301025
HP:0000079	Abnormality of the urinary system	410	ARSA	ORPHA:309271
HP:0000079	Abnormality of the urinary system	410	ARSA	ORPHA:309263
HP:0000079	Abnormality of the urinary system	410	ARSA	ORPHA:309256
HP:0000079	Abnormality of the urinary system	410	ARSA	OMIM:250100
HP:0000079	Abnormality of the urinary system	2590	GALNT2	OMIM:618885
HP:0000079	Abnormality of the urinary system	5832	ALDH18A1	OMIM:616586
HP:0000079	Abnormality of the urinary system	5832	ALDH18A1	OMIM:601162
HP:0000079	Abnormality of the urinary system	5832	ALDH18A1	ORPHA:447753
HP:0000079	Abnormality of the urinary system	215	ABCD1	ORPHA:139399
HP:0000079	Abnormality of the urinary system	215	ABCD1	OMIM:300100
HP:0000079	Abnormality of the urinary system	51319	RSRC1	OMIM:618402
HP:0000079	Abnormality of the urinary system	54463	RETREG1	OMIM:613115
HP:0000079	Abnormality of the urinary system	6575	SLC20A2	OMIM:213600
HP:0000079	Abnormality of the urinary system	5155	PDGFB	OMIM:213600
HP:0000079	Abnormality of the urinary system	5155	PDGFB	ORPHA:2495
HP:0000079	Abnormality of the urinary system	549	AUH	OMIM:250950
HP:0000079	Abnormality of the urinary system	80208	SPG11	OMIM:602099
HP:0000079	Abnormality of the urinary system	80208	SPG11	ORPHA:300605
HP:0000079	Abnormality of the urinary system	80208	SPG11	OMIM:604360
HP:0000079	Abnormality of the urinary system	7276	TTR	OMIM:105210
HP:0000079	Abnormality of the urinary system	823	CAPN1	OMIM:616907
HP:0000079	Abnormality of the urinary system	10273	STUB1	OMIM:618093
HP:0000079	Abnormality of the urinary system	2632	GBE1	ORPHA:206583
HP:0000079	Abnormality of the urinary system	2632	GBE1	OMIM:263570
HP:0000079	Abnormality of the urinary system	1137	CHRNA4	ORPHA:98784
HP:0000079	Abnormality of the urinary system	1135	CHRNA2	ORPHA:98784
HP:0000079	Abnormality of the urinary system	57010	CABP4	ORPHA:98784
HP:0000079	Abnormality of the urinary system	1141	CHRNB2	ORPHA:98784
HP:0000079	Abnormality of the urinary system	57582	KCNT1	ORPHA:98784
HP:0000079	Abnormality of the urinary system	1392	CRH	ORPHA:98784
HP:0000079	Abnormality of the urinary system	9681	DEPDC5	ORPHA:98784
HP:0000079	Abnormality of the urinary system	57531	HACE1	ORPHA:464282
HP:0000079	Abnormality of the urinary system	6687	SPG7	OMIM:607259
HP:0000079	Abnormality of the urinary system	26278	SACS	ORPHA:98
HP:0000079	Abnormality of the urinary system	2332	FMR1	OMIM:300623
HP:0000079	Abnormality of the urinary system	23400	ATP13A2	ORPHA:306674
HP:0000079	Abnormality of the urinary system	9907	AP5Z1	OMIM:613647
HP:0000079	Abnormality of the urinary system	9907	AP5Z1	ORPHA:306511
HP:0000079	Abnormality of the urinary system	79152	FA2H	OMIM:612319
HP:0000079	Abnormality of the urinary system	79152	FA2H	ORPHA:171629
HP:0000079	Abnormality of the urinary system	4747	NEFL	ORPHA:101085
HP:0000079	Abnormality of the urinary system	6908	TBP	OMIM:607136
HP:0000079	Abnormality of the urinary system	28982	FLVCR1	OMIM:609033
HP:0000079	Abnormality of the urinary system	3752	KCND3	ORPHA:98772
HP:0000079	Abnormality of the urinary system	56978	PRDM8	OMIM:616640
HP:0000079	Abnormality of the urinary system	23259	DDHD2	OMIM:615033
HP:0000079	Abnormality of the urinary system	2548	GAA	OMIM:232300
HP:0000079	Abnormality of the urinary system	8314	BAP1	ORPHA:2495
HP:0000079	Abnormality of the urinary system	4771	NF2	ORPHA:2495
HP:0000079	Abnormality of the urinary system	84231	TRAF7	ORPHA:2495
HP:0000079	Abnormality of the urinary system	6608	SMO	ORPHA:2495
HP:0000079	Abnormality of the urinary system	51684	SUFU	ORPHA:2495
HP:0000079	Abnormality of the urinary system	3748	KCNC3	ORPHA:98768
HP:0000079	Abnormality of the urinary system	80025	PANK2	OMIM:234200
HP:0000079	Abnormality of the urinary system	724066	ATXN8	ORPHA:98760
HP:0000079	Abnormality of the urinary system	6315	ATXN8OS	ORPHA:98760
HP:0000079	Abnormality of the urinary system	23503	ZFYVE26	OMIM:270700
HP:0000079	Abnormality of the urinary system	51611	DPH5	OMIM:620070
HP:0000079	Abnormality of the urinary system	283446	MYO1H	OMIM:619482
HP:0000079	Abnormality of the urinary system	2521	FUS	ORPHA:300605
HP:0000079	Abnormality of the urinary system	10280	SIGMAR1	ORPHA:300605
HP:0000079	Abnormality of the urinary system	10558	SPTLC1	ORPHA:300605
HP:0000079	Abnormality of the urinary system	57679	ALS2	ORPHA:300605
HP:0000079	Abnormality of the urinary system	57679	ALS2	OMIM:205100
HP:0000079	Abnormality of the urinary system	57679	ALS2	OMIM:607225
HP:0000079	Abnormality of the urinary system	6305	SBF1	OMIM:615284
HP:0000079	Abnormality of the urinary system	7204	TRIO	ORPHA:476126
HP:0000079	Abnormality of the urinary system	6253	RTN2	OMIM:604805
HP:0000079	Abnormality of the urinary system	6253	RTN2	ORPHA:100993
HP:0000079	Abnormality of the urinary system	25978	CHMP2B	OMIM:600795
HP:0000079	Abnormality of the urinary system	8913	CACNA1G	ORPHA:458803
HP:0000079	Abnormality of the urinary system	8913	CACNA1G	OMIM:616795
HP:0000079	Abnormality of the urinary system	339855	KY	OMIM:617114
HP:0000079	Abnormality of the urinary system	1315	COPB1	OMIM:619255
HP:0000079	Abnormality of the urinary system	7415	VCP	ORPHA:329478
HP:0000079	Abnormality of the urinary system	22943	DKK1	ORPHA:268882
HP:0000079	Abnormality of the urinary system	2678	GGT1	OMIM:231950
HP:0000079	Abnormality of the urinary system	3329	HSPD1	OMIM:605280
HP:0000079	Abnormality of the urinary system	3329	HSPD1	ORPHA:100994
HP:0000079	Abnormality of the urinary system	9757	KMT2B	OMIM:619934
HP:0000079	Abnormality of the urinary system	6683	SPAST	OMIM:182601
HP:0000079	Abnormality of the urinary system	51062	ATL1	OMIM:182600
HP:0000079	Abnormality of the urinary system	6509	SLC1A4	ORPHA:447997
HP:0000079	Abnormality of the urinary system	84188	FAR1	ORPHA:447753
HP:0000079	Abnormality of the urinary system	84978	FRMD5	OMIM:620094
HP:0000079	Abnormality of the urinary system	51271	UBAP1	ORPHA:100993
HP:0000079	Abnormality of the urinary system	5654	HTRA1	OMIM:600142
HP:0000079	Abnormality of the urinary system	126129	CPT1C	ORPHA:444099
HP:0000079	Abnormality of the urinary system	80217	CFAP43	OMIM:236690
HP:0000079	Abnormality of the urinary system	7305	TYROBP	OMIM:221770
HP:0000079	Abnormality of the urinary system	57165	GJC2	OMIM:613206
HP:0000079	Abnormality of the urinary system	3798	KIF5A	OMIM:604187
HP:0000079	Abnormality of the urinary system	55081	IFT57	OMIM:617927
HP:0000079	Abnormality of the urinary system	3119	HLA-DQB1	OMIM:126200
HP:0000079	Abnormality of the urinary system	5133	PDCD1	OMIM:126200
HP:0000079	Abnormality of the urinary system	10398	MYL9	OMIM:619365
HP:0000079	Abnormality of the urinary system	29123	ANKRD11	OMIM:148050
HP:0000079	Abnormality of the urinary system	26005	C2CD3	ORPHA:434179
HP:0000079	Abnormality of the urinary system	26005	C2CD3	OMIM:615948
HP:0000079	Abnormality of the urinary system	2535	FZD2	ORPHA:3107
HP:0000079	Abnormality of the urinary system	9791	PTDSS1	ORPHA:2658
HP:0000079	Abnormality of the urinary system	81620	CDT1	ORPHA:2554
HP:0000079	Abnormality of the urinary system	5000	ORC4	ORPHA:2554
HP:0000079	Abnormality of the urinary system	23594	ORC6	ORPHA:2554
HP:0000079	Abnormality of the urinary system	990	CDC6	ORPHA:2554
HP:0000079	Abnormality of the urinary system	4998	ORC1	ORPHA:2554
HP:0000079	Abnormality of the urinary system	51053	GMNN	ORPHA:2554
HP:0000079	Abnormality of the urinary system	4089	SMAD4	ORPHA:2588
HP:0000079	Abnormality of the urinary system	54539	NDUFB11	ORPHA:2556
HP:0000079	Abnormality of the urinary system	1349	COX7B	ORPHA:2556
HP:0000079	Abnormality of the urinary system	3052	HCCS	ORPHA:2556
HP:0000079	Abnormality of the urinary system	26235	FBXL4	OMIM:615471
HP:0000079	Abnormality of the urinary system	1947	EFNB1	ORPHA:1520
HP:0000079	Abnormality of the urinary system	1947	EFNB1	OMIM:304110
HP:0000079	Abnormality of the urinary system	4204	MECP2	ORPHA:1762
HP:0000079	Abnormality of the urinary system	4204	MECP2	OMIM:300260
HP:0000079	Abnormality of the urinary system	6938	TCF12	OMIM:619718
HP:0000079	Abnormality of the urinary system	9820	CUL7	ORPHA:2616
HP:0000079	Abnormality of the urinary system	9820	CUL7	OMIM:273750
HP:0000079	Abnormality of the urinary system	23363	OBSL1	ORPHA:2616
HP:0000079	Abnormality of the urinary system	83987	CCDC8	ORPHA:2616
HP:0000079	Abnormality of the urinary system	81857	MED25	OMIM:616449
HP:0000079	Abnormality of the urinary system	81857	MED25	ORPHA:464738
HP:0000079	Abnormality of the urinary system	197131	UBR1	OMIM:243800
HP:0000079	Abnormality of the urinary system	197131	UBR1	ORPHA:2315
HP:0000079	Abnormality of the urinary system	267010	RNU12	OMIM:603116
HP:0000079	Abnormality of the urinary system	116931	MED12L	OMIM:618872
HP:0000079	Abnormality of the urinary system	9578	CDC42BPB	OMIM:619841
HP:0000079	Abnormality of the urinary system	1528	CYB5A	ORPHA:90796
HP:0000079	Abnormality of the urinary system	1528	CYB5A	OMIM:250790
HP:0000079	Abnormality of the urinary system	1586	CYP17A1	ORPHA:90796
HP:0000079	Abnormality of the urinary system	1586	CYP17A1	ORPHA:90793
HP:0000079	Abnormality of the urinary system	7020	TFAP2A	OMIM:113620
HP:0000079	Abnormality of the urinary system	1281	COL3A1	ORPHA:286
HP:0000079	Abnormality of the urinary system	23347	SMCHD1	OMIM:603457
HP:0000079	Abnormality of the urinary system	833	CARS1	OMIM:618891
HP:0000079	Abnormality of the urinary system	3981	LIG4	ORPHA:235
HP:0000079	Abnormality of the urinary system	54888	NSUN2	ORPHA:235
HP:0000079	Abnormality of the urinary system	8363	H4C11	OMIM:619759
HP:0000079	Abnormality of the urinary system	6134	RPL10	ORPHA:459070
HP:0000079	Abnormality of the urinary system	6134	RPL10	OMIM:300998
HP:0000079	Abnormality of the urinary system	6134	RPL10	ORPHA:435938
HP:0000079	Abnormality of the urinary system	1859	DYRK1A	ORPHA:464311
HP:0000079	Abnormality of the urinary system	1859	DYRK1A	ORPHA:268261
HP:0000079	Abnormality of the urinary system	9772	TMEM94	OMIM:618316
HP:0000079	Abnormality of the urinary system	2260	FGFR1	OMIM:166250
HP:0000079	Abnormality of the urinary system	2260	FGFR1	OMIM:615465
HP:0000079	Abnormality of the urinary system	9725	TMEM63A	OMIM:618688
HP:0000079	Abnormality of the urinary system	7476	WNT7A	OMIM:276820
HP:0000079	Abnormality of the urinary system	79087	ALG12	ORPHA:79324
HP:0000079	Abnormality of the urinary system	79087	ALG12	OMIM:607143
HP:0000079	Abnormality of the urinary system	9896	FIG4	OMIM:216340
HP:0000079	Abnormality of the urinary system	9896	FIG4	ORPHA:3472
HP:0000079	Abnormality of the urinary system	1523	CUX1	OMIM:618330
HP:0000079	Abnormality of the urinary system	5426	POLE	OMIM:618336
HP:0000079	Abnormality of the urinary system	5426	POLE	ORPHA:85173
HP:0000079	Abnormality of the urinary system	6477	SIAH1	OMIM:619314
HP:0000079	Abnormality of the urinary system	8473	OGT	OMIM:300997
HP:0000079	Abnormality of the urinary system	10765	KDM5B	OMIM:618109
HP:0000079	Abnormality of the urinary system	5308	PITX2	ORPHA:782
HP:0000079	Abnormality of the urinary system	5308	PITX2	OMIM:180500
HP:0000079	Abnormality of the urinary system	2296	FOXC1	ORPHA:782
HP:0000079	Abnormality of the urinary system	374654	KIF7	ORPHA:36
HP:0000079	Abnormality of the urinary system	374654	KIF7	OMIM:200990
HP:0000079	Abnormality of the urinary system	3039	HBA1	ORPHA:98791
HP:0000079	Abnormality of the urinary system	3040	HBA2	ORPHA:98791
HP:0000079	Abnormality of the urinary system	4703	NEB	OMIM:619334
HP:0000079	Abnormality of the urinary system	4703	NEB	ORPHA:171430
HP:0000079	Abnormality of the urinary system	51132	RLIM	OMIM:300978
HP:0000079	Abnormality of the urinary system	50945	TBX22	OMIM:302905
HP:0000079	Abnormality of the urinary system	50945	TBX22	ORPHA:921
HP:0000079	Abnormality of the urinary system	284654	RSPO1	OMIM:610644
HP:0000079	Abnormality of the urinary system	25942	SIN3A	ORPHA:94065
HP:0000079	Abnormality of the urinary system	25942	SIN3A	OMIM:613406
HP:0000079	Abnormality of the urinary system	23522	KAT6B	OMIM:603736
HP:0000079	Abnormality of the urinary system	7317	UBA1	OMIM:301830
HP:0000079	Abnormality of the urinary system	8802	SUCLG1	ORPHA:17
HP:0000079	Abnormality of the urinary system	4700	NDUFA6	OMIM:618253
HP:0000079	Abnormality of the urinary system	5144	PDE4D	ORPHA:439822
HP:0000079	Abnormality of the urinary system	5144	PDE4D	OMIM:614613
HP:0000079	Abnormality of the urinary system	5144	PDE4D	ORPHA:280651
HP:0000079	Abnormality of the urinary system	2475	MTOR	ORPHA:457485
HP:0000079	Abnormality of the urinary system	4990	SIX6	OMIM:206900
HP:0000079	Abnormality of the urinary system	6657	SOX2	OMIM:206900
HP:0000079	Abnormality of the urinary system	6657	SOX2	ORPHA:77298
HP:0000079	Abnormality of the urinary system	54809	SAMD9	OMIM:617053
HP:0000079	Abnormality of the urinary system	9851	KIAA0753	OMIM:619479
HP:0000079	Abnormality of the urinary system	6711	SPTBN1	OMIM:619475
HP:0000079	Abnormality of the urinary system	5781	PTPN11	ORPHA:500
HP:0000079	Abnormality of the urinary system	5781	PTPN11	OMIM:151100
HP:0000079	Abnormality of the urinary system	5781	PTPN11	OMIM:163950
HP:0000079	Abnormality of the urinary system	673	BRAF	ORPHA:500
HP:0000079	Abnormality of the urinary system	673	BRAF	OMIM:163950
HP:0000079	Abnormality of the urinary system	5894	RAF1	ORPHA:500
HP:0000079	Abnormality of the urinary system	2222	FDFT1	OMIM:618156
HP:0000079	Abnormality of the urinary system	219844	HYLS1	OMIM:236680
HP:0000079	Abnormality of the urinary system	9897	WASHC5	ORPHA:7
HP:0000079	Abnormality of the urinary system	9897	WASHC5	OMIM:220210
HP:0000079	Abnormality of the urinary system	28952	CCDC22	ORPHA:7
HP:0000079	Abnormality of the urinary system	55181	SMG8	OMIM:619268
HP:0000079	Abnormality of the urinary system	4713	NDUFB7	OMIM:620135
HP:0000079	Abnormality of the urinary system	4702	NDUFA8	OMIM:619272
HP:0000079	Abnormality of the urinary system	10128	LRPPRC	OMIM:220111
HP:0000079	Abnormality of the urinary system	8450	CUL4B	OMIM:300354
HP:0000079	Abnormality of the urinary system	6770	STAR	OMIM:201710
HP:0000079	Abnormality of the urinary system	58	ACTA1	ORPHA:171430
HP:0000079	Abnormality of the urinary system	131377	KLHL40	ORPHA:171430
HP:0000079	Abnormality of the urinary system	10324	KLHL41	ORPHA:171430
HP:0000079	Abnormality of the urinary system	56203	LMOD3	ORPHA:171430
HP:0000079	Abnormality of the urinary system	22858	CILK1	OMIM:612651
HP:0000079	Abnormality of the urinary system	10847	SRCAP	ORPHA:2044
HP:0000079	Abnormality of the urinary system	10847	SRCAP	OMIM:136140
HP:0000079	Abnormality of the urinary system	6662	SOX9	OMIM:114290
HP:0000079	Abnormality of the urinary system	6662	SOX9	ORPHA:251510
HP:0000079	Abnormality of the urinary system	6662	SOX9	ORPHA:2138
HP:0000079	Abnormality of the urinary system	55780	ERMARD	ORPHA:75857
HP:0000079	Abnormality of the urinary system	1146	CHRNG	OMIM:265000
HP:0000079	Abnormality of the urinary system	222663	SCUBE3	OMIM:619184
HP:0000079	Abnormality of the urinary system	55697	VAC14	ORPHA:3472
HP:0000079	Abnormality of the urinary system	4214	MAP3K1	OMIM:613762
HP:0000079	Abnormality of the urinary system	4214	MAP3K1	ORPHA:251510
HP:0000079	Abnormality of the urinary system	6845	VAMP7	ORPHA:251510
HP:0000079	Abnormality of the urinary system	51741	WWOX	ORPHA:251510
HP:0000079	Abnormality of the urinary system	2516	NR5A1	ORPHA:251510
HP:0000079	Abnormality of the urinary system	2516	NR5A1	ORPHA:2138
HP:0000079	Abnormality of the urinary system	58524	DMRT3	ORPHA:251510
HP:0000079	Abnormality of the urinary system	57647	DHX37	ORPHA:251510
HP:0000079	Abnormality of the urinary system	23414	ZFPM2	ORPHA:251510
HP:0000079	Abnormality of the urinary system	190	NR0B1	ORPHA:251510
HP:0000079	Abnormality of the urinary system	83879	CDCA7	OMIM:616910
HP:0000079	Abnormality of the urinary system	53834	FGFRL1	OMIM:194190
HP:0000079	Abnormality of the urinary system	5828	PEX2	OMIM:614866
HP:0000079	Abnormality of the urinary system	5828	PEX2	ORPHA:912
HP:0000079	Abnormality of the urinary system	57459	GATAD2B	ORPHA:363686
HP:0000079	Abnormality of the urinary system	5324	PLAG1	ORPHA:397590
HP:0000079	Abnormality of the urinary system	10661	KLF1	OMIM:613673
HP:0000079	Abnormality of the urinary system	701	BUB1B	OMIM:257300
HP:0000079	Abnormality of the urinary system	55670	PEX26	ORPHA:912
HP:0000079	Abnormality of the urinary system	5824	PEX19	ORPHA:912
HP:0000079	Abnormality of the urinary system	8504	PEX3	ORPHA:912
HP:0000079	Abnormality of the urinary system	8799	PEX11B	ORPHA:912
HP:0000079	Abnormality of the urinary system	9409	PEX16	ORPHA:912
HP:0000079	Abnormality of the urinary system	5193	PEX12	ORPHA:912
HP:0000079	Abnormality of the urinary system	5194	PEX13	ORPHA:912
HP:0000079	Abnormality of the urinary system	5195	PEX14	ORPHA:912
HP:0000079	Abnormality of the urinary system	5192	PEX10	ORPHA:912
HP:0000079	Abnormality of the urinary system	10075	HUWE1	OMIM:309590
HP:0000079	Abnormality of the urinary system	10159	ATP6AP2	OMIM:301045
HP:0000079	Abnormality of the urinary system	10586	MAB21L2	OMIM:615877
HP:0000079	Abnormality of the urinary system	113179	ADAT3	ORPHA:363528
HP:0000079	Abnormality of the urinary system	55209	SETD5	OMIM:615761
HP:0000079	Abnormality of the urinary system	55784	MCTP2	ORPHA:1596
HP:0000079	Abnormality of the urinary system	998	CDC42	OMIM:616737
HP:0000079	Abnormality of the urinary system	998	CDC42	ORPHA:487796
HP:0000079	Abnormality of the urinary system	8831	SYNGAP1	ORPHA:544254
HP:0000079	Abnormality of the urinary system	23028	KDM1A	ORPHA:477993
HP:0000079	Abnormality of the urinary system	25	ABL1	OMIM:617602
HP:0000079	Abnormality of the urinary system	545	ATR	OMIM:210600
HP:0000079	Abnormality of the urinary system	5116	PCNT	OMIM:210720
HP:0000079	Abnormality of the urinary system	5723	PSPH	ORPHA:79350
HP:0000079	Abnormality of the urinary system	1589	CYP21A2	OMIM:201910
HP:0000079	Abnormality of the urinary system	4659	PPP1R12A	OMIM:618820
HP:0000079	Abnormality of the urinary system	25914	RTTN	ORPHA:468631
HP:0000079	Abnormality of the urinary system	4796	TONSL	ORPHA:93357
HP:0000079	Abnormality of the urinary system	202018	TAPT1	OMIM:616897
HP:0000079	Abnormality of the urinary system	4047	LSS	OMIM:618840
HP:0000079	Abnormality of the urinary system	5879	RAC1	OMIM:617751
HP:0000079	Abnormality of the urinary system	5879	RAC1	ORPHA:500159
HP:0000079	Abnormality of the urinary system	51780	KDM3B	OMIM:618846
HP:0000079	Abnormality of the urinary system	4724	NDUFS4	OMIM:252010
HP:0000079	Abnormality of the urinary system	1468	SLC25A10	OMIM:618972
HP:0000079	Abnormality of the urinary system	203068	TUBB	ORPHA:2505
HP:0000079	Abnormality of the urinary system	5604	MAP2K1	OMIM:163950
HP:0000079	Abnormality of the urinary system	3284	HSD3B2	OMIM:201810
HP:0000079	Abnormality of the urinary system	6716	SRD5A2	OMIM:264600
HP:0000079	Abnormality of the urinary system	6716	SRD5A2	ORPHA:753
HP:0000079	Abnormality of the urinary system	367	AR	OMIM:300633
HP:0000079	Abnormality of the urinary system	367	AR	ORPHA:90797
HP:0000079	Abnormality of the urinary system	367	AR	OMIM:312300
HP:0000079	Abnormality of the urinary system	2626	GATA4	OMIM:615542
HP:0000079	Abnormality of the urinary system	84314	TMEM107	ORPHA:564
HP:0000079	Abnormality of the urinary system	79867	TCTN2	ORPHA:564
HP:0000079	Abnormality of the urinary system	80776	B9D2	ORPHA:564
HP:0000079	Abnormality of the urinary system	79600	TCTN1	ORPHA:564
HP:0000079	Abnormality of the urinary system	57096	RPGRIP1	ORPHA:564
HP:0000079	Abnormality of the urinary system	79770	TXNDC15	ORPHA:564
HP:0000079	Abnormality of the urinary system	27077	B9D1	ORPHA:564
HP:0000079	Abnormality of the urinary system	54903	MKS1	ORPHA:564
HP:0000079	Abnormality of the urinary system	7473	WNT3	OMIM:273395
HP:0000079	Abnormality of the urinary system	134701	RIPPLY2	ORPHA:2311
HP:0000079	Abnormality of the urinary system	10683	DLL3	ORPHA:2311
HP:0000079	Abnormality of the urinary system	3955	LFNG	ORPHA:2311
HP:0000079	Abnormality of the urinary system	84667	HES7	ORPHA:2311
HP:0000079	Abnormality of the urinary system	145873	MESP2	ORPHA:2311
HP:0000079	Abnormality of the urinary system	6794	STK11	OMIM:175200
HP:0000079	Abnormality of the urinary system	6794	STK11	ORPHA:2869
HP:0000079	Abnormality of the urinary system	2314	FLII	ORPHA:819
HP:0000079	Abnormality of the urinary system	23096	IQSEC2	ORPHA:819
HP:0000079	Abnormality of the urinary system	10522	DEAF1	ORPHA:819
HP:0000079	Abnormality of the urinary system	5818	NECTIN1	ORPHA:3253
HP:0000079	Abnormality of the urinary system	5190	PEX6	OMIM:614863
HP:0000079	Abnormality of the urinary system	10982	MAPRE2	OMIM:616734
HP:0000079	Abnormality of the urinary system	6792	CDKL5	ORPHA:1934
HP:0000079	Abnormality of the urinary system	3736	KCNA1	ORPHA:1934
HP:0000079	Abnormality of the urinary system	2775	GNAO1	ORPHA:1934
HP:0000079	Abnormality of the urinary system	2902	GRIN1	ORPHA:1934
HP:0000079	Abnormality of the urinary system	79751	SLC25A22	ORPHA:1934
HP:0000079	Abnormality of the urinary system	150094	SIK1	ORPHA:1934
HP:0000079	Abnormality of the urinary system	8573	CASK	ORPHA:1934
HP:0000079	Abnormality of the urinary system	23312	DMXL2	ORPHA:1934
HP:0000079	Abnormality of the urinary system	2917	GRM7	ORPHA:1934
HP:0000079	Abnormality of the urinary system	170302	ARX	ORPHA:1934
HP:0000079	Abnormality of the urinary system	11284	PNKP	ORPHA:1934
HP:0000079	Abnormality of the urinary system	6326	SCN2A	ORPHA:1934
HP:0000079	Abnormality of the urinary system	51227	PIGP	ORPHA:1934
HP:0000079	Abnormality of the urinary system	6324	SCN1B	ORPHA:1934
HP:0000079	Abnormality of the urinary system	4761	NEUROD2	ORPHA:1934
HP:0000079	Abnormality of the urinary system	1009	CDH11	ORPHA:1299
HP:0000079	Abnormality of the urinary system	5337	PLD1	OMIM:212093
HP:0000079	Abnormality of the urinary system	9653	HS2ST1	OMIM:619194
HP:0000079	Abnormality of the urinary system	2294	FOXF1	OMIM:265380
HP:0000079	Abnormality of the urinary system	4638	MYLK	OMIM:249210
HP:0000079	Abnormality of the urinary system	4638	MYLK	ORPHA:2241
HP:0000079	Abnormality of the urinary system	1909	EDNRA	OMIM:616367
HP:0000079	Abnormality of the urinary system	8195	MKKS	OMIM:236700
HP:0000079	Abnormality of the urinary system	51715	RAB23	OMIM:201000
HP:0000079	Abnormality of the urinary system	25802	LMOD1	OMIM:619362
HP:0000079	Abnormality of the urinary system	25802	LMOD1	ORPHA:2241
HP:0000079	Abnormality of the urinary system	4629	MYH11	ORPHA:2241
HP:0000079	Abnormality of the urinary system	56975	FAM20C	OMIM:259775
HP:0000079	Abnormality of the urinary system	64321	SOX17	OMIM:613674
HP:0000079	Abnormality of the urinary system	71	ACTG1	ORPHA:2995
HP:0000079	Abnormality of the urinary system	60	ACTB	ORPHA:2995
HP:0000079	Abnormality of the urinary system	166379	BBS12	OMIM:615989
HP:0000079	Abnormality of the urinary system	6655	SOS2	OMIM:616559
HP:0000079	Abnormality of the urinary system	26040	SETBP1	OMIM:269150
HP:0000079	Abnormality of the urinary system	8312	AXIN1	OMIM:607864
HP:0000079	Abnormality of the urinary system	2239	GPC4	ORPHA:373
HP:0000079	Abnormality of the urinary system	2719	GPC3	ORPHA:373
HP:0000079	Abnormality of the urinary system	388662	SLC6A17	ORPHA:457212
HP:0000079	Abnormality of the urinary system	4000	LMNA	ORPHA:1662
HP:0000079	Abnormality of the urinary system	10269	ZMPSTE24	ORPHA:1662
HP:0000079	Abnormality of the urinary system	10269	ZMPSTE24	OMIM:275210
HP:0000079	Abnormality of the urinary system	2627	GATA6	ORPHA:2255
HP:0000079	Abnormality of the urinary system	2627	GATA6	OMIM:600001
HP:0000079	Abnormality of the urinary system	10653	SPINT2	OMIM:270420
HP:0000079	Abnormality of the urinary system	6654	SOS1	OMIM:610733
HP:0000079	Abnormality of the urinary system	7528	YY1	ORPHA:506358
HP:0000079	Abnormality of the urinary system	7528	YY1	OMIM:617557
HP:0000079	Abnormality of the urinary system	7355	SLC35A2	OMIM:300896
HP:0000079	Abnormality of the urinary system	2972	BRF1	ORPHA:444072
HP:0000079	Abnormality of the urinary system	7750	ZMYM2	OMIM:619522
HP:0000079	Abnormality of the urinary system	2782	GNB1	OMIM:616973
HP:0000079	Abnormality of the urinary system	10861	SLC26A1	OMIM:167030
HP:0000079	Abnormality of the urinary system	3655	ITGA6	ORPHA:79403
HP:0000079	Abnormality of the urinary system	4920	ROR2	OMIM:268310
HP:0000079	Abnormality of the urinary system	7474	WNT5A	OMIM:180700
HP:0000079	Abnormality of the urinary system	1855	DVL1	OMIM:180700
HP:0000079	Abnormality of the urinary system	10617	STAMBP	OMIM:614261
HP:0000079	Abnormality of the urinary system	8294	H4C9	OMIM:619951
HP:0000079	Abnormality of the urinary system	26128	KIFBP	OMIM:609460
HP:0000079	Abnormality of the urinary system	23556	PIGN	ORPHA:2059
HP:0000079	Abnormality of the urinary system	23556	PIGN	OMIM:614080
HP:0000079	Abnormality of the urinary system	5361	PLXNA1	OMIM:619955
HP:0000079	Abnormality of the urinary system	3190	HNRNPK	ORPHA:453504
HP:0000079	Abnormality of the urinary system	3190	HNRNPK	OMIM:616580
HP:0000079	Abnormality of the urinary system	3190	HNRNPK	ORPHA:352665
HP:0000079	Abnormality of the urinary system	4281	MID1	OMIM:300000
HP:0000079	Abnormality of the urinary system	4281	MID1	ORPHA:2745
HP:0000079	Abnormality of the urinary system	51506	UFC1	OMIM:618076
HP:0000079	Abnormality of the urinary system	72	ACTG2	ORPHA:2604
HP:0000079	Abnormality of the urinary system	72	ACTG2	OMIM:155310
HP:0000079	Abnormality of the urinary system	9915	ARNT2	OMIM:615926
HP:0000079	Abnormality of the urinary system	284058	KANSL1	ORPHA:363958
HP:0000079	Abnormality of the urinary system	284058	KANSL1	ORPHA:363965
HP:0000079	Abnormality of the urinary system	284058	KANSL1	OMIM:610443
HP:0000079	Abnormality of the urinary system	1136	CHRNA3	OMIM:191800
HP:0000079	Abnormality of the urinary system	10616	RBCK1	OMIM:615895
HP:0000079	Abnormality of the urinary system	7080	NKX2-1	ORPHA:209905
HP:0000079	Abnormality of the urinary system	3670	ISL1	ORPHA:93930
HP:0000079	Abnormality of the urinary system	1656	DDX6	OMIM:618653
HP:0000079	Abnormality of the urinary system	5718	PSMD12	ORPHA:529962
HP:0000079	Abnormality of the urinary system	2186	BPTF	ORPHA:529962
HP:0000079	Abnormality of the urinary system	57178	ZMIZ1	OMIM:618659
HP:0000079	Abnormality of the urinary system	8550	MAPKAPK5	OMIM:619869
HP:0000079	Abnormality of the urinary system	5062	PAK2	ORPHA:1571
HP:0000079	Abnormality of the urinary system	253738	EBF3	OMIM:617330
HP:0000079	Abnormality of the urinary system	5530	PPP3CA	OMIM:618265
HP:0000079	Abnormality of the urinary system	9091	PIGQ	OMIM:618548
HP:0000079	Abnormality of the urinary system	84720	PIGO	OMIM:614749
HP:0000079	Abnormality of the urinary system	8405	SPOP	OMIM:618828
HP:0000079	Abnormality of the urinary system	2131	EXT1	ORPHA:502
HP:0000079	Abnormality of the urinary system	7227	TRPS1	ORPHA:502
HP:0000079	Abnormality of the urinary system	8318	CDC45	OMIM:617063
HP:0000079	Abnormality of the urinary system	253959	RALGAPA1	OMIM:618797
HP:0000079	Abnormality of the urinary system	1857	DVL3	OMIM:616894
HP:0000079	Abnormality of the urinary system	2316	FLNA	ORPHA:2484
HP:0000079	Abnormality of the urinary system	11128	POLR3A	ORPHA:3455
HP:0000079	Abnormality of the urinary system	1028	CDKN1C	OMIM:130650
HP:0000079	Abnormality of the urinary system	10984	KCNQ1OT1	OMIM:130650
HP:0000079	Abnormality of the urinary system	3481	IGF2	OMIM:130650
HP:0000079	Abnormality of the urinary system	3784	KCNQ1	OMIM:130650
HP:0000079	Abnormality of the urinary system	644096	SDHAF1	ORPHA:3208
HP:0000079	Abnormality of the urinary system	4052	LTBP1	ORPHA:90349
HP:0000079	Abnormality of the urinary system	30008	EFEMP2	ORPHA:90349
HP:0000079	Abnormality of the urinary system	10516	FBLN5	ORPHA:90349
HP:0000079	Abnormality of the urinary system	9276	COPB2	ORPHA:2512
HP:0000079	Abnormality of the urinary system	11113	CIT	ORPHA:2512
HP:0000079	Abnormality of the urinary system	22995	CEP152	ORPHA:2512
HP:0000079	Abnormality of the urinary system	284403	WDR62	ORPHA:2512
HP:0000079	Abnormality of the urinary system	55262	TRAPPC14	ORPHA:2512
HP:0000079	Abnormality of the urinary system	163786	SASS6	ORPHA:2512
HP:0000079	Abnormality of the urinary system	29920	PYCR2	ORPHA:2512
HP:0000079	Abnormality of the urinary system	84879	MFSD2A	ORPHA:2512
HP:0000079	Abnormality of the urinary system	4176	MCM7	ORPHA:2512
HP:0000079	Abnormality of the urinary system	80254	CEP63	ORPHA:2512
HP:0000079	Abnormality of the urinary system	29081	METTL5	ORPHA:2512
HP:0000079	Abnormality of the urinary system	23310	NCAPD3	ORPHA:2512
HP:0000079	Abnormality of the urinary system	55755	CDK5RAP2	ORPHA:2512
HP:0000079	Abnormality of the urinary system	79648	MCPH1	ORPHA:2512
HP:0000079	Abnormality of the urinary system	6491	STIL	ORPHA:2512
HP:0000079	Abnormality of the urinary system	23141	ANKLE2	ORPHA:2512
HP:0000079	Abnormality of the urinary system	259266	ASPM	ORPHA:2512
HP:0000079	Abnormality of the urinary system	7109	TRAPPC10	ORPHA:2512
HP:0000079	Abnormality of the urinary system	1911	PHC1	ORPHA:2512
HP:0000079	Abnormality of the urinary system	6884	TAF13	ORPHA:2512
HP:0000079	Abnormality of the urinary system	9662	CEP135	ORPHA:2512
HP:0000079	Abnormality of the urinary system	55835	CENPJ	ORPHA:2512
HP:0000079	Abnormality of the urinary system	57082	KNL1	ORPHA:2512
HP:0000079	Abnormality of the urinary system	1021	CDK6	ORPHA:2512
HP:0000079	Abnormality of the urinary system	171023	ASXL1	OMIM:605039
HP:0000079	Abnormality of the urinary system	3767	KCNJ11	ORPHA:552
HP:0000079	Abnormality of the urinary system	3767	KCNJ11	ORPHA:99886
HP:0000079	Abnormality of the urinary system	8462	KLF11	ORPHA:552
HP:0000079	Abnormality of the urinary system	2645	GCK	ORPHA:552
HP:0000079	Abnormality of the urinary system	26060	APPL1	ORPHA:552
HP:0000079	Abnormality of the urinary system	640	BLK	ORPHA:552
HP:0000079	Abnormality of the urinary system	1056	CEL	ORPHA:552
HP:0000079	Abnormality of the urinary system	4760	NEUROD1	ORPHA:552
HP:0000079	Abnormality of the urinary system	3651	PDX1	ORPHA:552
HP:0000079	Abnormality of the urinary system	6833	ABCC8	ORPHA:552
HP:0000079	Abnormality of the urinary system	6833	ABCC8	ORPHA:99886
HP:0000079	Abnormality of the urinary system	5078	PAX4	ORPHA:552
HP:0000079	Abnormality of the urinary system	6927	HNF1A	ORPHA:552
HP:0000079	Abnormality of the urinary system	3630	INS	ORPHA:552
HP:0000079	Abnormality of the urinary system	324	APC	ORPHA:261584
HP:0000079	Abnormality of the urinary system	85358	SHANK3	OMIM:606232
HP:0000079	Abnormality of the urinary system	9839	ZEB2	OMIM:235730
HP:0000079	Abnormality of the urinary system	6888	TALDO1	ORPHA:101028
HP:0000079	Abnormality of the urinary system	54968	TMEM70	ORPHA:1194
HP:0000079	Abnormality of the urinary system	1723	DHODH	OMIM:263750
HP:0000079	Abnormality of the urinary system	123016	TTC8	OMIM:613464
HP:0000079	Abnormality of the urinary system	6812	STXBP1	ORPHA:495818
HP:0000079	Abnormality of the urinary system	2033	EP300	ORPHA:353284
HP:0000079	Abnormality of the urinary system	346171	ZFP57	ORPHA:99886
HP:0000079	Abnormality of the urinary system	57061	HYMAI	ORPHA:99886
HP:0000079	Abnormality of the urinary system	5325	PLAGL1	ORPHA:99886
HP:0000079	Abnormality of the urinary system	79140	CCDC28B	OMIM:209900
HP:0000079	Abnormality of the urinary system	582	BBS1	OMIM:209900
HP:0000079	Abnormality of the urinary system	5566	PRKACA	ORPHA:289
HP:0000079	Abnormality of the urinary system	5567	PRKACB	ORPHA:289
HP:0000079	Abnormality of the urinary system	2735	GLI1	ORPHA:289
HP:0000079	Abnormality of the urinary system	2121	EVC	ORPHA:289
HP:0000079	Abnormality of the urinary system	132884	EVC2	ORPHA:289
HP:0000079	Abnormality of the urinary system	10483	SEC23B	ORPHA:201
HP:0000079	Abnormality of the urinary system	5728	PTEN	ORPHA:201
HP:0000079	Abnormality of the urinary system	207	AKT1	ORPHA:201
HP:0000079	Abnormality of the urinary system	205717	USF3	ORPHA:201
HP:0000079	Abnormality of the urinary system	100144748	KLLN	ORPHA:201
HP:0000079	Abnormality of the urinary system	9401	RECQL4	OMIM:218600
HP:0000079	Abnormality of the urinary system	10815	CPLX1	ORPHA:280
HP:0000079	Abnormality of the urinary system	54872	PIGG	ORPHA:280
HP:0000079	Abnormality of the urinary system	7469	NELFA	ORPHA:280
HP:0000079	Abnormality of the urinary system	1487	CTBP1	ORPHA:280
HP:0000079	Abnormality of the urinary system	3954	LETM1	ORPHA:280
HP:0000079	Abnormality of the urinary system	7468	NSD2	ORPHA:280
HP:0000079	Abnormality of the urinary system	92949	ADAMTSL1	ORPHA:521445
HP:0000079	Abnormality of the urinary system	6638	SNRPN	ORPHA:177907
HP:0000079	Abnormality of the urinary system	392255	GDF6	OMIM:118100
HP:0000079	Abnormality of the urinary system	5590	PRKCZ	ORPHA:1606
HP:0000079	Abnormality of the urinary system	2563	GABRD	ORPHA:1606
HP:0000079	Abnormality of the urinary system	23013	SPEN	ORPHA:1606
HP:0000079	Abnormality of the urinary system	8510	MMP23B	ORPHA:1606
HP:0000079	Abnormality of the urinary system	7798	LUZP1	ORPHA:1606
HP:0000079	Abnormality of the urinary system	6497	SKI	ORPHA:1606
HP:0000079	Abnormality of the urinary system	10630	PDPN	ORPHA:1606
HP:0000079	Abnormality of the urinary system	3339	HSPG2	ORPHA:1606
HP:0000079	Abnormality of the urinary system	10277	UBE4B	ORPHA:1606
HP:0000079	Abnormality of the urinary system	8514	KCNAB2	ORPHA:1606
HP:0000079	Abnormality of the urinary system	473	RERE	ORPHA:1606
HP:0000079	Abnormality of the urinary system	63976	PRDM16	ORPHA:1606
HP:0000079	Abnormality of the urinary system	54897	CASZ1	ORPHA:1606
HP:0000079	Abnormality of the urinary system	58508	KMT2C	ORPHA:261652
HP:0000079	Abnormality of the urinary system	27086	FOXP1	ORPHA:391372
HP:0000079	Abnormality of the urinary system	91949	COG7	ORPHA:79333
HP:0000079	Abnormality of the urinary system	4286	MITF	ORPHA:895
HP:0000079	Abnormality of the urinary system	7299	TYR	ORPHA:895
HP:0000079	Abnormality of the urinary system	6591	SNAI2	ORPHA:895
HP:0000079	Abnormality of the urinary system	1910	EDNRB	ORPHA:895
HP:0000079	Abnormality of the urinary system	4254	KITLG	ORPHA:895
HP:0000079	Abnormality of the urinary system	6663	SOX10	ORPHA:895
HP:0000079	Abnormality of the urinary system	4854	NOTCH3	ORPHA:2591
HP:0000079	Abnormality of the urinary system	5159	PDGFRB	ORPHA:2591
HP:0000079	Abnormality of the urinary system	1387	CREBBP	ORPHA:353277
HP:0000079	Abnormality of the urinary system	10736	SIX2	ORPHA:488437
HP:0000079	Abnormality of the urinary system	585	BBS4	OMIM:615982
HP:0000079	Abnormality of the urinary system	55315	SLC29A3	ORPHA:168569
HP:0000079	Abnormality of the urinary system	22954	TRIM32	OMIM:615988
HP:0000079	Abnormality of the urinary system	9420	CYP7B1	ORPHA:100986
HP:0000079	Abnormality of the urinary system	51604	PIGT	ORPHA:369837
HP:0000079	Abnormality of the urinary system	493856	CISD2	ORPHA:3463
HP:0000079	Abnormality of the urinary system	7466	WFS1	ORPHA:3463
HP:0000079	Abnormality of the urinary system	526	ATP6V1B2	ORPHA:79500
HP:0000079	Abnormality of the urinary system	57465	TBC1D24	ORPHA:79500
HP:0000079	Abnormality of the urinary system	1308	COL17A1	ORPHA:79406
HP:0000079	Abnormality of the urinary system	183	AGT	OMIM:267430
HP:0000079	Abnormality of the urinary system	185	AGTR1	OMIM:267430
HP:0000079	Abnormality of the urinary system	1636	ACE	OMIM:267430
HP:0000079	Abnormality of the urinary system	10342	TFG	ORPHA:90117
HP:0000079	Abnormality of the urinary system	10743	RAI1	OMIM:182290
HP:0000079	Abnormality of the urinary system	5921	RASA1	ORPHA:90307
HP:0000079	Abnormality of the urinary system	2583	B4GALNT1	ORPHA:101006
HP:0000079	Abnormality of the urinary system	1584	CYP11B1	OMIM:103900
HP:0000079	Abnormality of the urinary system	8036	SHOC2	OMIM:607721
HP:0000079	Abnormality of the urinary system	3376	IARS1	OMIM:617093
HP:0000079	Abnormality of the urinary system	3376	IARS1	ORPHA:541423
HP:0000079	Abnormality of the urinary system	23126	POGZ	OMIM:616364
HP:0000079	Abnormality of the urinary system	23126	POGZ	ORPHA:468678
HP:0000079	Abnormality of the urinary system	9487	PIGL	OMIM:280000
HP:0000079	Abnormality of the urinary system	9894	TELO2	ORPHA:488642
HP:0000079	Abnormality of the urinary system	8626	TP63	OMIM:604292
HP:0000079	Abnormality of the urinary system	55593	OTUD5	OMIM:301056
HP:0000079	Abnormality of the urinary system	80781	COL18A1	OMIM:267750
HP:0000079	Abnormality of the urinary system	3909	LAMA3	ORPHA:79404
HP:0000079	Abnormality of the urinary system	3918	LAMC2	ORPHA:79404
HP:0000079	Abnormality of the urinary system	3914	LAMB3	ORPHA:79404
HP:0000079	Abnormality of the urinary system	5700	PSMC1	OMIM:620071
HP:0000079	Abnormality of the urinary system	5594	MAPK1	OMIM:619087
HP:0000079	Abnormality of the urinary system	7148	TNXB	OMIM:615963
HP:0000079	Abnormality of the urinary system	8085	KMT2D	ORPHA:2322
HP:0000079	Abnormality of the urinary system	26191	PTPN22	ORPHA:397
HP:0000079	Abnormality of the urinary system	26191	PTPN22	ORPHA:900
HP:0000079	Abnormality of the urinary system	3106	HLA-B	ORPHA:397
HP:0000079	Abnormality of the urinary system	3106	HLA-B	ORPHA:117
HP:0000079	Abnormality of the urinary system	3106	HLA-B	ORPHA:36426
HP:0000079	Abnormality of the urinary system	3123	HLA-DRB1	ORPHA:397
HP:0000079	Abnormality of the urinary system	3123	HLA-DRB1	ORPHA:797
HP:0000079	Abnormality of the urinary system	3123	HLA-DRB1	ORPHA:220393
HP:0000079	Abnormality of the urinary system	8974	P4HA2	ORPHA:397
HP:0000079	Abnormality of the urinary system	51726	DNAJB11	OMIM:618061
HP:0000079	Abnormality of the urinary system	51726	DNAJB11	ORPHA:730
HP:0000079	Abnormality of the urinary system	4594	MMUT	ORPHA:289916
HP:0000079	Abnormality of the urinary system	4594	MMUT	ORPHA:79312
HP:0000079	Abnormality of the urinary system	355	FAS	ORPHA:3261
HP:0000079	Abnormality of the urinary system	355	FAS	ORPHA:117
HP:0000079	Abnormality of the urinary system	356	FASLG	ORPHA:3261
HP:0000079	Abnormality of the urinary system	5580	PRKCD	ORPHA:3261
HP:0000079	Abnormality of the urinary system	843	CASP10	ORPHA:3261
HP:0000079	Abnormality of the urinary system	10125	RASGRP1	ORPHA:3261
HP:0000079	Abnormality of the urinary system	9860	LRIG2	OMIM:615112
HP:0000079	Abnormality of the urinary system	9860	LRIG2	ORPHA:2704
HP:0000079	Abnormality of the urinary system	8518	ELP1	ORPHA:1764
HP:0000079	Abnormality of the urinary system	4010	LMX1B	ORPHA:2613
HP:0000079	Abnormality of the urinary system	4010	LMX1B	ORPHA:2614
HP:0000079	Abnormality of the urinary system	4010	LMX1B	OMIM:161200
HP:0000079	Abnormality of the urinary system	4010	LMX1B	OMIM:256020
HP:0000079	Abnormality of the urinary system	5631	PRPS1	ORPHA:411543
HP:0000079	Abnormality of the urinary system	5631	PRPS1	ORPHA:411536
HP:0000079	Abnormality of the urinary system	5631	PRPS1	OMIM:300661
HP:0000079	Abnormality of the urinary system	3209	HOXA13	OMIM:140000
HP:0000079	Abnormality of the urinary system	84942	WDR73	OMIM:251300
HP:0000079	Abnormality of the urinary system	84942	WDR73	ORPHA:83472
HP:0000079	Abnormality of the urinary system	1131	CHRM3	ORPHA:2970
HP:0000079	Abnormality of the urinary system	81839	VANGL1	ORPHA:3027
HP:0000079	Abnormality of the urinary system	80199	FUZ	ORPHA:3027
HP:0000079	Abnormality of the urinary system	4867	NPHP1	OMIM:609583
HP:0000079	Abnormality of the urinary system	4867	NPHP1	OMIM:266900
HP:0000079	Abnormality of the urinary system	4867	NPHP1	ORPHA:220497
HP:0000079	Abnormality of the urinary system	64324	NSD1	ORPHA:821
HP:0000079	Abnormality of the urinary system	29072	SETD2	ORPHA:821
HP:0000079	Abnormality of the urinary system	10297	APC2	ORPHA:821
HP:0000079	Abnormality of the urinary system	79848	CSPP1	ORPHA:397715
HP:0000079	Abnormality of the urinary system	9786	KIAA0586	ORPHA:397715
HP:0000079	Abnormality of the urinary system	11136	SLC7A9	OMIM:220100
HP:0000079	Abnormality of the urinary system	6519	SLC3A1	OMIM:220100
HP:0000079	Abnormality of the urinary system	23607	CD2AP	OMIM:607832
HP:0000079	Abnormality of the urinary system	4312	MMP1	ORPHA:79408
HP:0000079	Abnormality of the urinary system	1294	COL7A1	ORPHA:79408
HP:0000079	Abnormality of the urinary system	79577	CDC73	ORPHA:143
HP:0000079	Abnormality of the urinary system	79577	CDC73	ORPHA:99880
HP:0000079	Abnormality of the urinary system	79577	CDC73	ORPHA:99879
HP:0000079	Abnormality of the urinary system	4311	MME	ORPHA:69063
HP:0000079	Abnormality of the urinary system	9380	GRHPR	OMIM:260000
HP:0000079	Abnormality of the urinary system	9380	GRHPR	ORPHA:93599
HP:0000079	Abnormality of the urinary system	23322	RPGRIP1L	ORPHA:220497
HP:0000079	Abnormality of the urinary system	23322	RPGRIP1L	ORPHA:1454
HP:0000079	Abnormality of the urinary system	23322	RPGRIP1L	OMIM:619113
HP:0000079	Abnormality of the urinary system	65062	TMEM237	ORPHA:220497
HP:0000079	Abnormality of the urinary system	65062	TMEM237	ORPHA:2318
HP:0000079	Abnormality of the urinary system	79947	DHDDS	OMIM:613861
HP:0000079	Abnormality of the urinary system	9640	ZNF592	ORPHA:83472
HP:0000079	Abnormality of the urinary system	6523	SLC5A1	ORPHA:35710
HP:0000079	Abnormality of the urinary system	9382	COG1	OMIM:611209
HP:0000079	Abnormality of the urinary system	4868	NPHS1	OMIM:256300
HP:0000079	Abnormality of the urinary system	55034	MOCOS	OMIM:603592
HP:0000079	Abnormality of the urinary system	23193	GANAB	ORPHA:730
HP:0000079	Abnormality of the urinary system	5310	PKD1	ORPHA:730
HP:0000079	Abnormality of the urinary system	5310	PKD1	OMIM:173900
HP:0000079	Abnormality of the urinary system	5311	PKD2	ORPHA:730
HP:0000079	Abnormality of the urinary system	5311	PKD2	OMIM:613095
HP:0000079	Abnormality of the urinary system	29880	ALG5	ORPHA:730
HP:0000079	Abnormality of the urinary system	29880	ALG5	OMIM:620056
HP:0000079	Abnormality of the urinary system	9742	IFT140	ORPHA:730
HP:0000079	Abnormality of the urinary system	9742	IFT140	ORPHA:474
HP:0000079	Abnormality of the urinary system	79796	ALG9	ORPHA:730
HP:0000079	Abnormality of the urinary system	80114	BICC1	ORPHA:730
HP:0000079	Abnormality of the urinary system	80114	BICC1	OMIM:601331
HP:0000079	Abnormality of the urinary system	9071	CLDN10	OMIM:617671
HP:0000079	Abnormality of the urinary system	81693	AMN	OMIM:618882
HP:0000079	Abnormality of the urinary system	3043	HBB	OMIM:603903
HP:0000079	Abnormality of the urinary system	8029	CUBN	OMIM:618884
HP:0000079	Abnormality of the urinary system	2859	GPR35	ORPHA:171
HP:0000079	Abnormality of the urinary system	10507	SEMA4D	ORPHA:171
HP:0000079	Abnormality of the urinary system	4485	MST1	ORPHA:171
HP:0000079	Abnormality of the urinary system	6925	TCF4	ORPHA:171
HP:0000079	Abnormality of the urinary system	54757	FAM20A	OMIM:204690
HP:0000079	Abnormality of the urinary system	54757	FAM20A	ORPHA:1031
HP:0000079	Abnormality of the urinary system	353	APRT	OMIM:614723
HP:0000079	Abnormality of the urinary system	353	APRT	ORPHA:976
HP:0000079	Abnormality of the urinary system	412	STS	ORPHA:281090
HP:0000079	Abnormality of the urinary system	7840	ALMS1	OMIM:203800
HP:0000079	Abnormality of the urinary system	672	BRCA1	ORPHA:84
HP:0000079	Abnormality of the urinary system	10459	MAD2L2	ORPHA:84
HP:0000079	Abnormality of the urinary system	7516	XRCC2	ORPHA:84
HP:0000079	Abnormality of the urinary system	29089	UBE2T	ORPHA:84
HP:0000079	Abnormality of the urinary system	675	BRCA2	ORPHA:84
HP:0000079	Abnormality of the urinary system	2177	FANCD2	ORPHA:84
HP:0000079	Abnormality of the urinary system	2175	FANCA	ORPHA:84
HP:0000079	Abnormality of the urinary system	2187	FANCB	ORPHA:84
HP:0000079	Abnormality of the urinary system	2176	FANCC	ORPHA:84
HP:0000079	Abnormality of the urinary system	2178	FANCE	ORPHA:84
HP:0000079	Abnormality of the urinary system	2189	FANCG	ORPHA:84
HP:0000079	Abnormality of the urinary system	5888	RAD51	ORPHA:84
HP:0000079	Abnormality of the urinary system	5889	RAD51C	ORPHA:84
HP:0000079	Abnormality of the urinary system	83990	BRIP1	ORPHA:84
HP:0000079	Abnormality of the urinary system	57697	FANCM	ORPHA:84
HP:0000079	Abnormality of the urinary system	79728	PALB2	ORPHA:84
HP:0000079	Abnormality of the urinary system	84464	SLX4	ORPHA:84
HP:0000079	Abnormality of the urinary system	1175	AP2S1	OMIM:600740
HP:0000079	Abnormality of the urinary system	203286	ANKS6	OMIM:615382
HP:0000079	Abnormality of the urinary system	5224	PGAM2	OMIM:261670
HP:0000079	Abnormality of the urinary system	60495	HPSE2	ORPHA:2704
HP:0000079	Abnormality of the urinary system	950	SCARB2	OMIM:254900
HP:0000079	Abnormality of the urinary system	5230	PGK1	ORPHA:713
HP:0000079	Abnormality of the urinary system	5230	PGK1	OMIM:300653
HP:0000079	Abnormality of the urinary system	3265	HRAS	OMIM:218040
HP:0000079	Abnormality of the urinary system	7490	WT1	OMIM:194072
HP:0000079	Abnormality of the urinary system	7490	WT1	ORPHA:347
HP:0000079	Abnormality of the urinary system	7490	WT1	OMIM:256370
HP:0000079	Abnormality of the urinary system	5080	PAX6	OMIM:194072
HP:0000079	Abnormality of the urinary system	54345	SOX18	OMIM:137940
HP:0000079	Abnormality of the urinary system	26160	IFT172	ORPHA:474
HP:0000079	Abnormality of the urinary system	51626	DYNC2LI1	ORPHA:474
HP:0000079	Abnormality of the urinary system	79809	TTC21B	ORPHA:474
HP:0000079	Abnormality of the urinary system	1187	CLCNKA	OMIM:613090
HP:0000079	Abnormality of the urinary system	1188	CLCNKB	OMIM:613090
HP:0000079	Abnormality of the urinary system	5314	PKHD1	OMIM:263200
HP:0000079	Abnormality of the urinary system	5314	PKHD1	ORPHA:731
HP:0000079	Abnormality of the urinary system	114548	NLRP3	OMIM:191900
HP:0000079	Abnormality of the urinary system	10908	PNPLA6	ORPHA:2377
HP:0000079	Abnormality of the urinary system	1282	COL4A1	ORPHA:73229
HP:0000079	Abnormality of the urinary system	1282	COL4A1	OMIM:611773
HP:0000079	Abnormality of the urinary system	718	C3	OMIM:613779
HP:0000079	Abnormality of the urinary system	1493	CTLA4	ORPHA:900
HP:0000079	Abnormality of the urinary system	3115	HLA-DPB1	ORPHA:900
HP:0000079	Abnormality of the urinary system	5657	PRTN3	ORPHA:900
HP:0000079	Abnormality of the urinary system	3113	HLA-DPA1	ORPHA:900
HP:0000079	Abnormality of the urinary system	8659	ALDH4A1	ORPHA:79101
HP:0000079	Abnormality of the urinary system	3675	ITGA3	OMIM:614748
HP:0000079	Abnormality of the urinary system	4567	MT-TL1	ORPHA:225
HP:0000079	Abnormality of the urinary system	4556	MT-TE	ORPHA:225
HP:0000079	Abnormality of the urinary system	4566	MT-TK	ORPHA:225
HP:0000079	Abnormality of the urinary system	2138	EYA1	ORPHA:107
HP:0000079	Abnormality of the urinary system	147912	SIX5	ORPHA:107
HP:0000079	Abnormality of the urinary system	147912	SIX5	OMIM:610896
HP:0000079	Abnormality of the urinary system	6495	SIX1	ORPHA:107
HP:0000079	Abnormality of the urinary system	229	ALDOB	ORPHA:469
HP:0000079	Abnormality of the urinary system	56052	ALG1	ORPHA:79327
HP:0000079	Abnormality of the urinary system	554	AVPR2	ORPHA:223
HP:0000079	Abnormality of the urinary system	359	AQP2	ORPHA:223
HP:0000079	Abnormality of the urinary system	3931	LCAT	OMIM:245900
HP:0000079	Abnormality of the urinary system	3251	HPRT1	OMIM:300323
HP:0000079	Abnormality of the urinary system	3251	HPRT1	ORPHA:79233
HP:0000079	Abnormality of the urinary system	3251	HPRT1	ORPHA:510
HP:0000079	Abnormality of the urinary system	57169	ZNFX1	OMIM:619644
HP:0000079	Abnormality of the urinary system	92002	CCNQ	ORPHA:140952
HP:0000079	Abnormality of the urinary system	23175	LPIN1	ORPHA:99845
HP:0000079	Abnormality of the urinary system	4512	MT-CO1	ORPHA:99845
HP:0000079	Abnormality of the urinary system	4514	MT-CO3	ORPHA:99845
HP:0000079	Abnormality of the urinary system	9968	MED12	OMIM:301068
HP:0000079	Abnormality of the urinary system	7369	UMOD	OMIM:162000
HP:0000079	Abnormality of the urinary system	79989	IFT56	OMIM:619534
HP:0000079	Abnormality of the urinary system	2717	GLA	OMIM:301500
HP:0000079	Abnormality of the urinary system	2717	GLA	ORPHA:324
HP:0000079	Abnormality of the urinary system	2625	GATA3	ORPHA:2237
HP:0000079	Abnormality of the urinary system	54916	TMEM260	OMIM:617478
HP:0000079	Abnormality of the urinary system	3458	IFNG	ORPHA:805
HP:0000079	Abnormality of the urinary system	7248	TSC1	ORPHA:805
HP:0000079	Abnormality of the urinary system	7249	TSC2	ORPHA:805
HP:0000079	Abnormality of the urinary system	2184	FAH	OMIM:276700
HP:0000079	Abnormality of the urinary system	2542	SLC37A4	OMIM:232240
HP:0000079	Abnormality of the urinary system	286204	CRB2	OMIM:219730
HP:0000079	Abnormality of the urinary system	4615	MYD88	ORPHA:33226
HP:0000079	Abnormality of the urinary system	1376	CPT2	OMIM:255110
HP:0000079	Abnormality of the urinary system	1376	CPT2	OMIM:608836
HP:0000079	Abnormality of the urinary system	1376	CPT2	ORPHA:228302
HP:0000079	Abnormality of the urinary system	1376	CPT2	ORPHA:228308
HP:0000079	Abnormality of the urinary system	27241	BBS9	OMIM:615986
HP:0000079	Abnormality of the urinary system	79738	BBS10	OMIM:615987
HP:0000079	Abnormality of the urinary system	2934	GSN	OMIM:105120
HP:0000079	Abnormality of the urinary system	149233	IL23R	ORPHA:117
HP:0000079	Abnormality of the urinary system	6775	STAT4	ORPHA:117
HP:0000079	Abnormality of the urinary system	6775	STAT4	ORPHA:93552
HP:0000079	Abnormality of the urinary system	3586	IL10	ORPHA:117
HP:0000079	Abnormality of the urinary system	4210	MEFV	ORPHA:117
HP:0000079	Abnormality of the urinary system	4210	MEFV	OMIM:134610
HP:0000079	Abnormality of the urinary system	1230	CCR1	ORPHA:117
HP:0000079	Abnormality of the urinary system	3592	IL12A	ORPHA:117
HP:0000079	Abnormality of the urinary system	101928376	IL12A-AS1	ORPHA:117
HP:0000079	Abnormality of the urinary system	7099	TLR4	ORPHA:117
HP:0000079	Abnormality of the urinary system	3459	IFNGR1	ORPHA:117
HP:0000079	Abnormality of the urinary system	720	C4A	ORPHA:117
HP:0000079	Abnormality of the urinary system	337867	UBAC2	ORPHA:117
HP:0000079	Abnormality of the urinary system	51752	ERAP1	ORPHA:117
HP:0000079	Abnormality of the urinary system	8302	KLRC4	ORPHA:117
HP:0000079	Abnormality of the urinary system	80184	CEP290	OMIM:615991
HP:0000079	Abnormality of the urinary system	80184	CEP290	ORPHA:2318
HP:0000079	Abnormality of the urinary system	92482	BBIP1	OMIM:615995
HP:0000079	Abnormality of the urinary system	10806	SDCCAG8	OMIM:615993
HP:0000079	Abnormality of the urinary system	51259	TMEM216	OMIM:608091
HP:0000079	Abnormality of the urinary system	51259	TMEM216	ORPHA:2318
HP:0000079	Abnormality of the urinary system	3426	CFI	OMIM:610984
HP:0000079	Abnormality of the urinary system	6696	SPP1	ORPHA:93552
HP:0000079	Abnormality of the urinary system	3654	IRAK1	ORPHA:93552
HP:0000079	Abnormality of the urinary system	79813	EHMT1	ORPHA:96147
HP:0000079	Abnormality of the urinary system	1776	DNASE1L3	ORPHA:36412
HP:0000079	Abnormality of the urinary system	81570	CLPB	ORPHA:445038
HP:0000079	Abnormality of the urinary system	23729	SHPK	ORPHA:440713
HP:0000079	Abnormality of the urinary system	3939	LDHA	OMIM:612933
HP:0000079	Abnormality of the urinary system	1287	COL4A5	OMIM:301050
HP:0000079	Abnormality of the urinary system	23005	MAPKBP1	OMIM:617271
HP:0000079	Abnormality of the urinary system	10320	IKZF1	ORPHA:36426
HP:0000079	Abnormality of the urinary system	486	FXYD2	OMIM:154020
HP:0000079	Abnormality of the urinary system	1108	CHD4	OMIM:617159
HP:0000079	Abnormality of the urinary system	4221	MEN1	ORPHA:99879
HP:0000079	Abnormality of the urinary system	9247	GCM2	ORPHA:99879
HP:0000079	Abnormality of the urinary system	79583	TMEM231	ORPHA:2318
HP:0000079	Abnormality of the urinary system	51524	TMEM138	ORPHA:2318
HP:0000079	Abnormality of the urinary system	23090	ZNF423	ORPHA:2318
HP:0000079	Abnormality of the urinary system	57545	CC2D2A	ORPHA:2318
HP:0000079	Abnormality of the urinary system	57545	CC2D2A	ORPHA:1454
HP:0000079	Abnormality of the urinary system	5277	PIGA	ORPHA:447
HP:0000079	Abnormality of the urinary system	3291	HSD11B2	ORPHA:320
HP:0000079	Abnormality of the urinary system	7809	BSND	OMIM:602522
HP:0000079	Abnormality of the urinary system	254428	SLC41A1	OMIM:619468
HP:0000079	Abnormality of the urinary system	9451	EIF2AK3	OMIM:226980
HP:0000079	Abnormality of the urinary system	9451	EIF2AK3	ORPHA:1667
HP:0000079	Abnormality of the urinary system	56623	INPP5E	ORPHA:1454
HP:0000079	Abnormality of the urinary system	27031	NPHP3	OMIM:604387
HP:0000079	Abnormality of the urinary system	27031	NPHP3	OMIM:208540
HP:0000079	Abnormality of the urinary system	151516	ASPRV1	ORPHA:313
HP:0000079	Abnormality of the urinary system	242	ALOX12B	ORPHA:313
HP:0000079	Abnormality of the urinary system	126410	CYP4F22	ORPHA:313
HP:0000079	Abnormality of the urinary system	6820	SULT2B1	ORPHA:313
HP:0000079	Abnormality of the urinary system	26154	ABCA12	ORPHA:313
HP:0000079	Abnormality of the urinary system	643418	LIPN	ORPHA:313
HP:0000079	Abnormality of the urinary system	59344	ALOXE3	ORPHA:313
HP:0000079	Abnormality of the urinary system	348938	NIPAL4	ORPHA:313
HP:0000079	Abnormality of the urinary system	121214	SDR9C7	ORPHA:313
HP:0000079	Abnormality of the urinary system	7051	TGM1	ORPHA:313
HP:0000079	Abnormality of the urinary system	56244	BTNL2	ORPHA:797
HP:0000079	Abnormality of the urinary system	23476	BRD4	ORPHA:199
HP:0000079	Abnormality of the urinary system	9126	SMC3	ORPHA:199
HP:0000079	Abnormality of the urinary system	8243	SMC1A	ORPHA:199
HP:0000079	Abnormality of the urinary system	55869	HDAC8	ORPHA:199
HP:0000079	Abnormality of the urinary system	4613	MYCN	ORPHA:391641
HP:0000079	Abnormality of the urinary system	6338	SCNN1B	OMIM:177200
HP:0000079	Abnormality of the urinary system	6338	SCNN1B	ORPHA:526
HP:0000079	Abnormality of the urinary system	3975	LHX1	ORPHA:261265
HP:0000079	Abnormality of the urinary system	4576	MT-TT	ORPHA:254857
HP:0000079	Abnormality of the urinary system	1285	COL4A3	OMIM:203780
HP:0000079	Abnormality of the urinary system	1285	COL4A3	OMIM:104200
HP:0000079	Abnormality of the urinary system	1286	COL4A4	OMIM:203780
HP:0000079	Abnormality of the urinary system	189	AGXT	OMIM:259900
HP:0000079	Abnormality of the urinary system	3257	HPS1	OMIM:203300
HP:0000079	Abnormality of the urinary system	54796	BNC2	ORPHA:93110
HP:0000079	Abnormality of the urinary system	2335	FN1	ORPHA:84090
HP:0000079	Abnormality of the urinary system	2335	FN1	OMIM:601894
HP:0000079	Abnormality of the urinary system	23630	KCNE5	ORPHA:86818
HP:0000079	Abnormality of the urinary system	2182	ACSL4	ORPHA:86818
HP:0000079	Abnormality of the urinary system	9949	AMMECR1	ORPHA:86818
HP:0000079	Abnormality of the urinary system	100147744	RNU7-1	OMIM:619487
HP:0000079	Abnormality of the urinary system	6569	SLC34A1	OMIM:613388
HP:0000079	Abnormality of the urinary system	100506658	OCLN	OMIM:251290
HP:0000079	Abnormality of the urinary system	50485	SMARCAL1	OMIM:242900
HP:0000079	Abnormality of the urinary system	199221	DZIP1L	ORPHA:731
HP:0000079	Abnormality of the urinary system	5264	PHYH	ORPHA:773
HP:0000079	Abnormality of the urinary system	5191	PEX7	ORPHA:773
HP:0000079	Abnormality of the urinary system	348	APOE	OMIM:611771
HP:0000079	Abnormality of the urinary system	25974	MMACHC	ORPHA:79282
HP:0000079	Abnormality of the urinary system	25974	MMACHC	OMIM:277400
HP:0000079	Abnormality of the urinary system	6340	SCNN1G	ORPHA:526
HP:0000079	Abnormality of the urinary system	6337	SCNN1A	ORPHA:526
HP:0000079	Abnormality of the urinary system	8481	OFD1	ORPHA:2750
HP:0000079	Abnormality of the urinary system	81494	CFHR5	OMIM:614809
HP:0000079	Abnormality of the urinary system	3735	KARS1	OMIM:619147
HP:0000079	Abnormality of the urinary system	1235	CCR6	ORPHA:220393
HP:0000079	Abnormality of the urinary system	1490	CCN2	ORPHA:220393
HP:0000079	Abnormality of the urinary system	3663	IRF5	ORPHA:220393
HP:0000079	Abnormality of the urinary system	857	CAV1	ORPHA:220393
HP:0000079	Abnormality of the urinary system	4627	MYH9	ORPHA:182050
HP:0000079	Abnormality of the urinary system	9935	MAFB	OMIM:166300
HP:0000079	Abnormality of the urinary system	3145	HMBS	ORPHA:79276
HP:0000079	Abnormality of the urinary system	5052	PRDX1	OMIM:277400
HP:0000079	Abnormality of the urinary system	2137	EXTL3	ORPHA:508533
HP:0000079	Abnormality of the urinary system	6309	SC5D	ORPHA:46059
HP:0000079	Abnormality of the urinary system	6309	SC5D	OMIM:607330
HP:0000079	Abnormality of the urinary system	10054	UBA2	OMIM:619959
HP:0000079	Abnormality of the urinary system	6650	CAPN15	OMIM:619318
HP:0000079	Abnormality of the urinary system	10274	STAG1	ORPHA:502434
HP:0000079	Abnormality of the urinary system	1736	DKC1	OMIM:305000
HP:0000079	Abnormality of the urinary system	27125	AFF4	ORPHA:444077
HP:0000079	Abnormality of the urinary system	27125	AFF4	OMIM:616368
HP:0000079	Abnormality of the urinary system	29998	BICRA	OMIM:619325
HP:0000079	Abnormality of the urinary system	6651	SON	OMIM:617140
HP:0000079	Abnormality of the urinary system	6651	SON	ORPHA:500150
HP:0000079	Abnormality of the urinary system	65993	MRPS34	OMIM:617664
HP:0000079	Abnormality of the urinary system	83479	DDX59	OMIM:174300
HP:0000079	Abnormality of the urinary system	9723	SEMA3E	ORPHA:138
HP:0000079	Abnormality of the urinary system	7547	ZIC3	OMIM:306955
HP:0000079	Abnormality of the urinary system	10584	COLEC10	OMIM:248340
HP:0000079	Abnormality of the urinary system	113189	CHST14	ORPHA:2953
HP:0000079	Abnormality of the urinary system	29940	DSE	ORPHA:2953
HP:0000079	Abnormality of the urinary system	6597	SMARCA4	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6598	SMARCB1	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6659	SOX4	ORPHA:1465
HP:0000079	Abnormality of the urinary system	8289	ARID1A	ORPHA:1465
HP:0000079	Abnormality of the urinary system	5977	DPF2	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6601	SMARCC2	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6602	SMARCD1	ORPHA:1465
HP:0000079	Abnormality of the urinary system	196528	ARID2	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6605	SMARCE1	ORPHA:1465
HP:0000079	Abnormality of the urinary system	6664	SOX11	ORPHA:1465
HP:0000079	Abnormality of the urinary system	1147	CHUK	OMIM:613630
HP:0000079	Abnormality of the urinary system	157570	ESCO2	ORPHA:2319
HP:0000079	Abnormality of the urinary system	157570	ESCO2	OMIM:268300
HP:0000079	Abnormality of the urinary system	157570	ESCO2	OMIM:216100
HP:0000079	Abnormality of the urinary system	64093	SMOC1	ORPHA:1106
HP:0000079	Abnormality of the urinary system	7319	UBE2A	OMIM:300860
HP:0000079	Abnormality of the urinary system	10524	KAT5	OMIM:619103
HP:0000079	Abnormality of the urinary system	7403	KDM6A	OMIM:300867
HP:0000079	Abnormality of the urinary system	6885	MAP3K7	OMIM:157800
HP:0000079	Abnormality of the urinary system	8241	RBM10	OMIM:311900
HP:0000079	Abnormality of the urinary system	8241	RBM10	ORPHA:2886
HP:0000079	Abnormality of the urinary system	3192	HNRNPU	ORPHA:238769
HP:0000079	Abnormality of the urinary system	64840	PORCN	OMIM:305600
HP:0000079	Abnormality of the urinary system	64840	PORCN	ORPHA:2092
HP:0000079	Abnormality of the urinary system	5447	POR	OMIM:201750
HP:0000079	Abnormality of the urinary system	6135	RPL11	OMIM:612562
HP:0000079	Abnormality of the urinary system	6135	RPL11	ORPHA:124
HP:0000079	Abnormality of the urinary system	10283	CWC27	OMIM:250410
HP:0000079	Abnormality of the urinary system	10283	CWC27	ORPHA:166035
HP:0000079	Abnormality of the urinary system	3845	KRAS	OMIM:163200
HP:0000079	Abnormality of the urinary system	4893	NRAS	OMIM:163200
HP:0000079	Abnormality of the urinary system	2887	GRB10	ORPHA:96182
HP:0000079	Abnormality of the urinary system	79228	THOC6	ORPHA:363444
HP:0000079	Abnormality of the urinary system	79228	THOC6	OMIM:613680
HP:0000079	Abnormality of the urinary system	78989	COLEC11	OMIM:265050
HP:0000079	Abnormality of the urinary system	3187	HNRNPH1	OMIM:620083
HP:0000079	Abnormality of the urinary system	6748	SSR4	ORPHA:370927
HP:0000079	Abnormality of the urinary system	9319	TRIP13	OMIM:617598
HP:0000079	Abnormality of the urinary system	9939	RBM8A	ORPHA:3320
HP:0000079	Abnormality of the urinary system	9939	RBM8A	OMIM:274000
HP:0000079	Abnormality of the urinary system	3110	MNX1	OMIM:176450
HP:0000079	Abnormality of the urinary system	10225	CD96	ORPHA:1308
HP:0000079	Abnormality of the urinary system	6138	RPL15	ORPHA:124
HP:0000079	Abnormality of the urinary system	6229	RPS24	ORPHA:124
HP:0000079	Abnormality of the urinary system	6125	RPL5	ORPHA:124
HP:0000079	Abnormality of the urinary system	6204	RPS10	ORPHA:124
HP:0000079	Abnormality of the urinary system	6224	RPS20	ORPHA:124
HP:0000079	Abnormality of the urinary system	6165	RPL35A	ORPHA:124
HP:0000079	Abnormality of the urinary system	2623	GATA1	ORPHA:124
HP:0000079	Abnormality of the urinary system	6232	RPS27	ORPHA:124
HP:0000079	Abnormality of the urinary system	11224	RPL35	ORPHA:124
HP:0000079	Abnormality of the urinary system	6160	RPL31	ORPHA:124
HP:0000079	Abnormality of the urinary system	6218	RPS17	ORPHA:124
HP:0000079	Abnormality of the urinary system	6201	RPS7	ORPHA:124
HP:0000079	Abnormality of the urinary system	6155	RPL27	ORPHA:124
HP:0000079	Abnormality of the urinary system	6154	RPL26	ORPHA:124
HP:0000079	Abnormality of the urinary system	6210	RPS15A	ORPHA:124
HP:0000079	Abnormality of the urinary system	90121	TSR2	ORPHA:124
HP:0000079	Abnormality of the urinary system	6141	RPL18	ORPHA:124
HP:0000079	Abnormality of the urinary system	6235	RPS29	ORPHA:124
HP:0000079	Abnormality of the urinary system	6234	RPS28	ORPHA:124
HP:0000079	Abnormality of the urinary system	51816	ADA2	ORPHA:124
HP:0000079	Abnormality of the urinary system	6736	SRY	ORPHA:1772
HP:0000079	Abnormality of the urinary system	1642	DDB1	OMIM:619426
HP:0000079	Abnormality of the urinary system	157657	CFAP418	OMIM:617406
HP:0000079	Abnormality of the urinary system	26123	TCTN3	OMIM:614815
HP:0000079	Abnormality of the urinary system	80000	GREB1L	OMIM:617805
HP:0000079	Abnormality of the urinary system	168667	BMPER	OMIM:608022
HP:0000079	Abnormality of the urinary system	1123	CHN1	ORPHA:233
HP:0000079	Abnormality of the urinary system	6611	SMS	ORPHA:3063
HP:0000079	Abnormality of the urinary system	6628	SNRPB	OMIM:117650
HP:0000079	Abnormality of the urinary system	83700	JAM3	OMIM:613730
HP:0000079	Abnormality of the urinary system	54361	WNT4	ORPHA:3109
HP:0000079	Abnormality of the urinary system	9508	ADAMTS3	ORPHA:2136
HP:0000079	Abnormality of the urinary system	147372	CCBE1	ORPHA:2136
HP:0000079	Abnormality of the urinary system	147372	CCBE1	OMIM:235510
HP:0000079	Abnormality of the urinary system	10992	SF3B2	OMIM:164210
HP:0000079	Abnormality of the urinary system	5932	RBBP8	OMIM:606744
HP:0000079	Abnormality of the urinary system	8239	USP9X	OMIM:300919
HP:0000079	Abnormality of the urinary system	23384	SPECC1L	ORPHA:1519
HP:0000079	Abnormality of the urinary system	6231	RPS26	OMIM:613309
HP:0000079	Abnormality of the urinary system	1763	DNA2	OMIM:615807
HP:0000079	Abnormality of the urinary system	3239	HOXD13	ORPHA:887
HP:0000079	Abnormality of the urinary system	54101	RIPK4	OMIM:263650
HP:0000079	Abnormality of the urinary system	90417	KNSTRN	OMIM:613328
HP:0000079	Abnormality of the urinary system	5293	PIK3CD	OMIM:613328
HP:0000079	Abnormality of the urinary system	5290	PIK3CA	OMIM:612918
HP:0000079	Abnormality of the urinary system	22827	PUF60	ORPHA:508498
HP:0000079	Abnormality of the urinary system	22827	PUF60	OMIM:615583
HP:0000079	Abnormality of the urinary system	5076	PAX2	ORPHA:97362
HP:0000079	Abnormality of the urinary system	5076	PAX2	ORPHA:1475
HP:0000079	Abnormality of the urinary system	5076	PAX2	OMIM:616002
HP:0000079	Abnormality of the urinary system	5076	PAX2	OMIM:120330
HP:0000079	Abnormality of the urinary system	5087	PBX1	ORPHA:97362
HP:0000079	Abnormality of the urinary system	5087	PBX1	OMIM:617641
HP:0000079	Abnormality of the urinary system	341640	FREM2	ORPHA:2052
HP:0000079	Abnormality of the urinary system	341640	FREM2	OMIM:617666
HP:0000079	Abnormality of the urinary system	80144	FRAS1	ORPHA:2052
HP:0000079	Abnormality of the urinary system	80144	FRAS1	OMIM:219000
HP:0000079	Abnormality of the urinary system	23426	GRIP1	ORPHA:2052
HP:0000079	Abnormality of the urinary system	54892	NCAPG2	OMIM:618460
HP:0000079	Abnormality of the urinary system	11020	IFT27	OMIM:615996
HP:0000079	Abnormality of the urinary system	1161	ERCC8	ORPHA:90324
HP:0000079	Abnormality of the urinary system	2074	ERCC6	ORPHA:90324
HP:0000079	Abnormality of the urinary system	100151683	RNU4ATAC	OMIM:210710
HP:0000079	Abnormality of the urinary system	4774	NFIA	OMIM:613735
HP:0000079	Abnormality of the urinary system	57167	SALL4	OMIM:607323
HP:0000079	Abnormality of the urinary system	4838	NODAL	OMIM:270100
HP:0000079	Abnormality of the urinary system	64220	STRA6	OMIM:601186
HP:0000079	Abnormality of the urinary system	64220	STRA6	ORPHA:2470
HP:0000079	Abnormality of the urinary system	6299	SALL1	OMIM:107480
HP:0000079	Abnormality of the urinary system	6299	SALL1	ORPHA:857
HP:0000079	Abnormality of the urinary system	55112	DYNC2I1	ORPHA:93271
HP:0000079	Abnormality of the urinary system	57560	IFT80	ORPHA:93271
HP:0000079	Abnormality of the urinary system	57539	WDR35	ORPHA:93271
HP:0000079	Abnormality of the urinary system	57539	WDR35	OMIM:614091
HP:0000079	Abnormality of the urinary system	79659	DYNC2H1	ORPHA:93271
HP:0000079	Abnormality of the urinary system	89891	DYNC2I2	ORPHA:93271
HP:0000079	Abnormality of the urinary system	23498	HAAO	OMIM:617660
HP:0000079	Abnormality of the urinary system	55159	RFWD3	OMIM:617784
HP:0000079	Abnormality of the urinary system	8882	ZPR1	OMIM:619321
HP:0000079	Abnormality of the urinary system	3313	HSPA9	OMIM:616854
HP:0000079	Abnormality of the urinary system	55215	FANCI	OMIM:609053
HP:0000079	Abnormality of the urinary system	23291	FBXW11	OMIM:618914
HP:0000079	Abnormality of the urinary system	6092	ROBO2	OMIM:610878
HP:0000079	Abnormality of the urinary system	6926	TBX3	ORPHA:3138
HP:0000079	Abnormality of the urinary system	2188	FANCF	OMIM:603467
HP:0000079	Abnormality of the urinary system	84987	COX14	OMIM:619053
HP:0000079	Abnormality of the urinary system	57492	ARID1B	OMIM:135900
HP:0000079	Abnormality of the urinary system	3899	AFF3	OMIM:619297
HP:0000079	Abnormality of the urinary system	54496	PRMT7	OMIM:617157
HP:0000079	Abnormality of the urinary system	54496	PRMT7	ORPHA:464288
HP:0000079	Abnormality of the urinary system	6928	HNF1B	OMIM:137920
HP:0000079	Abnormality of the urinary system	54567	DLL4	OMIM:616589
HP:0000079	Abnormality of the urinary system	1312	COMT	ORPHA:567
HP:0000079	Abnormality of the urinary system	221037	JMJD1C	ORPHA:567
HP:0000079	Abnormality of the urinary system	2812	GP1BB	ORPHA:567
HP:0000079	Abnormality of the urinary system	6239	RREB1	ORPHA:567
HP:0000079	Abnormality of the urinary system	6899	TBX1	ORPHA:567
HP:0000079	Abnormality of the urinary system	7290	HIRA	ORPHA:567
HP:0000079	Abnormality of the urinary system	9632	SEC24C	ORPHA:567
HP:0000079	Abnormality of the urinary system	7353	UFD1	ORPHA:567
HP:0000079	Abnormality of the urinary system	421	ARVCF	ORPHA:567
HP:0000079	Abnormality of the urinary system	25778	DSTYK	OMIM:610805
HP:0000079	Abnormality of the urinary system	1717	DHCR7	OMIM:270400
HP:0000079	Abnormality of the urinary system	652	BMP4	OMIM:607932
HP:0000079	Abnormality of the urinary system	8091	HMGA2	ORPHA:94063
HP:0000079	Abnormality of the urinary system	23592	LEMD3	ORPHA:94063
HP:0000079	Abnormality of the urinary system	1822	ATN1	OMIM:618494
HP:0000079	Abnormality of the urinary system	5147	PDE6D	OMIM:615665
HP:0000079	Abnormality of the urinary system	55636	CHD7	OMIM:214800
HP:0000079	Abnormality of the urinary system	79633	FAT4	OMIM:615546
HP:0000079	Abnormality of the urinary system	79633	FAT4	ORPHA:314679
HP:0000079	Abnormality of the urinary system	4582	MUC1	OMIM:174000
HP:0000079	Abnormality of the urinary system	8642	DCHS1	OMIM:601390
HP:0000079	Abnormality of the urinary system	8642	DCHS1	ORPHA:314679
HP:0000079	Abnormality of the urinary system	9096	TBX18	OMIM:143400
HP:0000079	Abnormality of the urinary system	2737	GLI3	OMIM:146510
HP:0000079	Abnormality of the urinary system	5972	REN	OMIM:613092
HP:0000079	Abnormality of the urinary system	8260	NAA10	OMIM:309800
HP:0000079	Abnormality of the urinary system	54880	BCOR	OMIM:309800
HP:0000079	Abnormality of the urinary system	145173	B3GLCT	OMIM:261540
HP:0000079	Abnormality of the urinary system	6804	STX1A	ORPHA:904
HP:0000079	Abnormality of the urinary system	7461	CLIP2	ORPHA:904
HP:0000079	Abnormality of the urinary system	84277	DNAJC30	ORPHA:904
HP:0000079	Abnormality of the urinary system	8468	FKBP6	ORPHA:904
HP:0000079	Abnormality of the urinary system	5982	RFC2	ORPHA:904
HP:0000079	Abnormality of the urinary system	2969	GTF2I	ORPHA:904
HP:0000079	Abnormality of the urinary system	3984	LIMK1	ORPHA:904
HP:0000079	Abnormality of the urinary system	9569	GTF2IRD1	ORPHA:904
HP:0000079	Abnormality of the urinary system	155382	VPS37D	ORPHA:904
HP:0000079	Abnormality of the urinary system	155368	METTL27	ORPHA:904
HP:0000079	Abnormality of the urinary system	114049	BUD23	ORPHA:904
HP:0000079	Abnormality of the urinary system	7458	EIF4H	ORPHA:904
HP:0000079	Abnormality of the urinary system	84163	GTF2IRD2	ORPHA:904
HP:0000079	Abnormality of the urinary system	9275	BCL7B	ORPHA:904
HP:0000079	Abnormality of the urinary system	26608	TBL2	ORPHA:904
HP:0000079	Abnormality of the urinary system	653361	NCF1	ORPHA:904
HP:0000079	Abnormality of the urinary system	135886	TMEM270	ORPHA:904
HP:0000079	Abnormality of the urinary system	51085	MLXIPL	ORPHA:904
HP:0000079	Abnormality of the urinary system	51085	MLXIPL	OMIM:194050
HP:0000079	Abnormality of the urinary system	9031	BAZ1B	ORPHA:904
HP:0000079	Abnormality of the urinary system	2006	ELN	ORPHA:904
HP:0000079	Abnormality of the urinary system	2006	ELN	OMIM:194050
HP:0000079	Abnormality of the urinary system	8364	H4C3	OMIM:619758
HP:0000079	Abnormality of the urinary system	55165	CEP55	OMIM:236500
HP:0000079	Abnormality of the urinary system	10907	TXNL4A	OMIM:608572
HP:0000079	Abnormality of the urinary system	8204	NRIP1	OMIM:618270
HP:0000079	Abnormality of the urinary system	284252	KCTD1	OMIM:181270
HP:0000079	Abnormality of the urinary system	374879	ZNF699	OMIM:619488
HP:0000079	Abnormality of the urinary system	9928	KIF14	OMIM:616258
HP:0000079	Abnormality of the urinary system	9928	KIF14	OMIM:617914
HP:0000079	Abnormality of the urinary system	51473	DCDC2	ORPHA:84081
HP:0000079	Abnormality of the urinary system	91147	TMEM67	ORPHA:84081
HP:0000079	Abnormality of the urinary system	182	JAG1	OMIM:118450
HP:0000079	Abnormality of the urinary system	2263	FGFR2	ORPHA:2363
HP:0000079	Abnormality of the urinary system	2261	FGFR3	ORPHA:2363
HP:0000079	Abnormality of the urinary system	2255	FGF10	ORPHA:2363
HP:0000079	Abnormality of the urinary system	51339	DACT1	ORPHA:857
HP:0000079	Abnormality of the urinary system	84919	PPP1R15B	OMIM:616817
HP:0000079	Abnormality of the urinary system	63895	PIEZO2	OMIM:248700
HP:0000079	Abnormality of the urinary system	10084	PQBP1	OMIM:309500
HP:0000079	Abnormality of the urinary system	5915	RARB	ORPHA:2470
HP:0000079	Abnormality of the urinary system	55120	FANCL	OMIM:614083
HP:0000079	Abnormality of the urinary system	153241	CEP120	OMIM:616300
HP:0000079	Abnormality of the urinary system	7518	XRCC4	OMIM:616541
HP:0000079	Abnormality of the urinary system	4193	MDM2	OMIM:618681
HP:0000079	Abnormality of the urinary system	10463	SLC30A9	OMIM:617595
HP:0000079	Abnormality of the urinary system	51360	MBTPS2	ORPHA:85284
HP:0000079	Abnormality of the urinary system	546	ATRX	OMIM:309580
HP:0000079	Abnormality of the urinary system	5885	RAD21	OMIM:611376
HP:0000079	Abnormality of the urinary system	25836	NIPBL	OMIM:122470
HP:0000079	Abnormality of the urinary system	55005	RMND1	OMIM:614922
HP:0000079	Abnormality of the urinary system	5557	PRIM1	OMIM:620005
HP:0000079	Abnormality of the urinary system	4853	NOTCH2	OMIM:610205
HP:0000079	Abnormality of the urinary system	84100	ARL6	OMIM:600151
HP:0000079	Abnormality of the urinary system	6223	RPS19	OMIM:105650
HP:0000079	Abnormality of the urinary system	8295	TRRAP	OMIM:618454
HP:0000079	Abnormality of the urinary system	9652	SKIC3	ORPHA:84064
HP:0000079	Abnormality of the urinary system	6499	SKIC2	ORPHA:84064
HP:0000079	Abnormality of the urinary system	57728	WDR19	OMIM:614376
HP:0000079	Abnormality of the urinary system	57728	WDR19	OMIM:614377
HP:0000079	Abnormality of the urinary system	4654	MYOD1	OMIM:618975
HP:0000079	Abnormality of the urinary system	27152	INTU	OMIM:617926
HP:0000079	Abnormality of the urinary system	3762	KCNJ5	ORPHA:37553
HP:0000079	Abnormality of the urinary system	3759	KCNJ2	ORPHA:37553
HP:0000079	Abnormality of the urinary system	4038	LRP4	OMIM:212780
HP:0000079	Abnormality of the urinary system	261734	NPHP4	OMIM:606996
HP:0000079	Abnormality of the urinary system	261734	NPHP4	OMIM:606966
HP:0000079	Abnormality of the urinary system	261734	NPHP4	ORPHA:3156
HP:0000079	Abnormality of the urinary system	95681	CEP41	OMIM:614464
HP:0000079	Abnormality of the urinary system	63929	XPNPEP3	OMIM:613159
HP:0000079	Abnormality of the urinary system	22897	CEP164	OMIM:614845
HP:0000079	Abnormality of the urinary system	22897	CEP164	ORPHA:3156
HP:0000079	Abnormality of the urinary system	84662	GLIS2	OMIM:611498
HP:0000079	Abnormality of the urinary system	26146	TRAF3IP1	OMIM:616629
HP:0000079	Abnormality of the urinary system	26146	TRAF3IP1	ORPHA:3156
HP:0000079	Abnormality of the urinary system	54806	AHI1	OMIM:608629
HP:0000079	Abnormality of the urinary system	9321	TRIP11	OMIM:184260
HP:0000079	Abnormality of the urinary system	112752	IFT43	OMIM:614099
HP:0000079	Abnormality of the urinary system	51134	CEP83	OMIM:615862
HP:0000079	Abnormality of the urinary system	284086	NEK8	OMIM:613824
HP:0000079	Abnormality of the urinary system	9657	IQCB1	ORPHA:3156
HP:0000079	Abnormality of the urinary system	9657	IQCB1	OMIM:609254
HP:0000079	Abnormality of the urinary system	27130	INVS	ORPHA:3156
HP:0000079	Abnormality of the urinary system	27130	INVS	OMIM:602088
HP:0000079	Abnormality of the urinary system	22909	FAN1	OMIM:614817
HP:0000079	Abnormality of the urinary system	56945	MRPS22	OMIM:611719
HP:0000079	Abnormality of the urinary system	5373	PMM2	ORPHA:79318
HP:0000079	Abnormality of the urinary system	4536	MT-ND2	ORPHA:255210
HP:0000079	Abnormality of the urinary system	4537	MT-ND3	ORPHA:255210
HP:0000079	Abnormality of the urinary system	4577	MT-TV	ORPHA:255210
HP:0000079	Abnormality of the urinary system	4508	MT-ATP6	ORPHA:255210
HP:0000079	Abnormality of the urinary system	56606	SLC2A9	ORPHA:94088
HP:0000079	Abnormality of the urinary system	116085	SLC22A12	ORPHA:94088
HP:0000079	Abnormality of the urinary system	25915	NDUFAF3	ORPHA:70474
HP:0000079	Abnormality of the urinary system	4714	NDUFB8	ORPHA:70474
HP:0000079	Abnormality of the urinary system	4720	NDUFS2	ORPHA:70474
HP:0000079	Abnormality of the urinary system	9997	SCO2	ORPHA:70474
HP:0000079	Abnormality of the urinary system	25970	SH2B1	ORPHA:261222
HP:0000079	Abnormality of the urinary system	2132	EXT2	OMIM:616682
HP:0000079	Abnormality of the urinary system	3162	HMOX1	OMIM:614034
HP:0000079	Abnormality of the urinary system	25959	KANK2	OMIM:617783
HP:0000079	Abnormality of the urinary system	6595	SMARCA2	ORPHA:2728
HP:0000079	Abnormality of the urinary system	8526	DGKE	OMIM:615008
HP:0000079	Abnormality of the urinary system	79693	YRDC	OMIM:619609
HP:0000079	Abnormality of the urinary system	1777	DNASE2	OMIM:619858
HP:0000079	Abnormality of the urinary system	6773	STAT2	OMIM:618886
HP:0000079	Abnormality of the urinary system	1801	DPH1	OMIM:616901
HP:0000079	Abnormality of the urinary system	84823	LMNB2	ORPHA:79087
HP:0000079	Abnormality of the urinary system	84823	LMNB2	OMIM:608709
HP:0000079	Abnormality of the urinary system	83480	PUS3	ORPHA:488627
HP:0000079	Abnormality of the urinary system	4036	LRP2	ORPHA:2143
HP:0000079	Abnormality of the urinary system	4036	LRP2	OMIM:222448
HP:0000079	Abnormality of the urinary system	54	ACP5	ORPHA:1855
HP:0000079	Abnormality of the urinary system	4069	LYZ	OMIM:105200
HP:0000079	Abnormality of the urinary system	2243	FGA	OMIM:105200
HP:0000079	Abnormality of the urinary system	335	APOA1	OMIM:105200
HP:0000079	Abnormality of the urinary system	567	B2M	OMIM:105200
HP:0000079	Abnormality of the urinary system	2321	FLT1	ORPHA:275555
HP:0000079	Abnormality of the urinary system	219736	STOX1	ORPHA:275555
HP:0000079	Abnormality of the urinary system	10699	CORIN	ORPHA:275555
HP:0000079	Abnormality of the urinary system	4094	MAF	ORPHA:1272
HP:0000079	Abnormality of the urinary system	3913	LAMB2	OMIM:614199
HP:0000079	Abnormality of the urinary system	3913	LAMB2	OMIM:609049
HP:0000079	Abnormality of the urinary system	6288	SAA1	ORPHA:85445
HP:0000079	Abnormality of the urinary system	10253	SPRY2	OMIM:616818
HP:0000079	Abnormality of the urinary system	4846	NOS3	OMIM:189800
HP:0000079	Abnormality of the urinary system	2303	FOXC2	ORPHA:33001
HP:0000079	Abnormality of the urinary system	5836	PYGL	ORPHA:369
HP:0000079	Abnormality of the urinary system	2629	GBA1	ORPHA:77261
HP:0000079	Abnormality of the urinary system	2629	GBA1	ORPHA:77259
HP:0000079	Abnormality of the urinary system	7535	ZAP70	OMIM:617006
HP:0000079	Abnormality of the urinary system	57107	PDSS2	OMIM:614652
HP:0000079	Abnormality of the urinary system	1288	COL4A6	ORPHA:1018
HP:0000079	Abnormality of the urinary system	4179	CD46	OMIM:612922
HP:0000079	Abnormality of the urinary system	4179	CD46	ORPHA:244242
HP:0000079	Abnormality of the urinary system	629	CFB	OMIM:612924
HP:0000079	Abnormality of the urinary system	7056	THBD	OMIM:612926
HP:0000079	Abnormality of the urinary system	9342	SNAP29	ORPHA:66631
HP:0000079	Abnormality of the urinary system	11093	ADAMTS13	OMIM:274150
HP:0000079	Abnormality of the urinary system	9663	LPIN2	ORPHA:77297
HP:0000079	Abnormality of the urinary system	3075	CFH	ORPHA:244242
HP:0000079	Abnormality of the urinary system	101101692	HELLPAR	ORPHA:244242
HP:0000079	Abnormality of the urinary system	55898	UNC45A	OMIM:619377
HP:0000079	Abnormality of the urinary system	8516	ITGA8	OMIM:191830
HP:0000079	Abnormality of the urinary system	9051	PSTPIP1	ORPHA:69126
HP:0000079	Abnormality of the urinary system	54938	SARS2	OMIM:613845
HP:0000079	Abnormality of the urinary system	11277	TREX1	ORPHA:247691
HP:0000079	Abnormality of the urinary system	9722	NOS1AP	OMIM:619155
HP:0000079	Abnormality of the urinary system	5339	PLEC	ORPHA:158684
HP:0000079	Abnormality of the urinary system	3691	ITGB4	ORPHA:158684
HP:0000079	Abnormality of the urinary system	7428	VHL	ORPHA:29072
HP:0000079	Abnormality of the urinary system	7428	VHL	ORPHA:276621
HP:0000079	Abnormality of the urinary system	1743	DLST	ORPHA:29072
HP:0000079	Abnormality of the urinary system	4191	MDH2	ORPHA:29072
HP:0000079	Abnormality of the urinary system	5979	RET	ORPHA:29072
HP:0000079	Abnormality of the urinary system	5979	RET	ORPHA:276621
HP:0000079	Abnormality of the urinary system	6389	SDHA	ORPHA:29072
HP:0000079	Abnormality of the urinary system	23095	KIF1B	ORPHA:29072
HP:0000079	Abnormality of the urinary system	8402	SLC25A11	ORPHA:29072
HP:0000079	Abnormality of the urinary system	54949	SDHAF2	ORPHA:29072
HP:0000079	Abnormality of the urinary system	55654	TMEM127	ORPHA:29072
HP:0000079	Abnormality of the urinary system	4763	NF1	ORPHA:29072
HP:0000079	Abnormality of the urinary system	6391	SDHC	ORPHA:29072
HP:0000079	Abnormality of the urinary system	6392	SDHD	ORPHA:29072
HP:0000079	Abnormality of the urinary system	6392	SDHD	ORPHA:276621
HP:0000079	Abnormality of the urinary system	6390	SDHB	ORPHA:29072
HP:0000079	Abnormality of the urinary system	6390	SDHB	ORPHA:276621
HP:0000079	Abnormality of the urinary system	4149	MAX	ORPHA:29072
HP:0000079	Abnormality of the urinary system	1788	DNMT3A	ORPHA:276621
HP:0000079	Abnormality of the urinary system	2034	EPAS1	ORPHA:276621
HP:0000079	Abnormality of the urinary system	55644	OSGEP	OMIM:617729
HP:0000079	Abnormality of the urinary system	7225	TRPC6	OMIM:603965
HP:0000079	Abnormality of the urinary system	7225	TRPC6	ORPHA:656
HP:0000079	Abnormality of the urinary system	4558	MT-TF	ORPHA:550
HP:0000079	Abnormality of the urinary system	4572	MT-TQ	ORPHA:550
HP:0000079	Abnormality of the urinary system	4513	MT-CO2	ORPHA:550
HP:0000079	Abnormality of the urinary system	4578	MT-TW	ORPHA:550
HP:0000079	Abnormality of the urinary system	4540	MT-ND5	ORPHA:550
HP:0000079	Abnormality of the urinary system	4541	MT-ND6	ORPHA:550
HP:0000079	Abnormality of the urinary system	4535	MT-ND1	ORPHA:550
HP:0000079	Abnormality of the urinary system	4538	MT-ND4	ORPHA:550
HP:0000079	Abnormality of the urinary system	4575	MT-TS2	ORPHA:550
HP:0000079	Abnormality of the urinary system	4564	MT-TH	ORPHA:550
HP:0000079	Abnormality of the urinary system	112858	TP53RK	OMIM:617730
HP:0000079	Abnormality of the urinary system	8879	SGPL1	OMIM:617575
HP:0000079	Abnormality of the urinary system	8270	LAGE3	OMIM:301006
HP:0000079	Abnormality of the urinary system	29927	SEC61A1	OMIM:617056
HP:0000079	Abnormality of the urinary system	51002	TPRKB	OMIM:617731
HP:0000079	Abnormality of the urinary system	10785	WDR4	OMIM:618347
HP:0000079	Abnormality of the urinary system	57122	NUP107	OMIM:618348
HP:0000079	Abnormality of the urinary system	57122	NUP107	OMIM:616730
HP:0000079	Abnormality of the urinary system	57122	NUP107	ORPHA:656
HP:0000079	Abnormality of the urinary system	55746	NUP133	OMIM:618349
HP:0000079	Abnormality of the urinary system	55746	NUP133	ORPHA:656
HP:0000079	Abnormality of the urinary system	55746	NUP133	OMIM:618177
HP:0000079	Abnormality of the urinary system	81	ACTN4	OMIM:603278
HP:0000079	Abnormality of the urinary system	81	ACTN4	ORPHA:656
HP:0000079	Abnormality of the urinary system	55243	KIRREL1	OMIM:619201
HP:0000079	Abnormality of the urinary system	10651	MTX2	OMIM:619127
HP:0000079	Abnormality of the urinary system	23165	NUP205	OMIM:616893
HP:0000079	Abnormality of the urinary system	23165	NUP205	ORPHA:656
HP:0000079	Abnormality of the urinary system	9688	NUP93	OMIM:616892
HP:0000079	Abnormality of the urinary system	9688	NUP93	ORPHA:656
HP:0000079	Abnormality of the urinary system	5800	PTPRO	OMIM:614196
HP:0000079	Abnormality of the urinary system	5800	PTPRO	ORPHA:656
HP:0000079	Abnormality of the urinary system	65082	VPS33A	OMIM:617303
HP:0000079	Abnormality of the urinary system	84520	GON7	OMIM:619603
HP:0000079	Abnormality of the urinary system	4643	MYO1E	ORPHA:656
HP:0000079	Abnormality of the urinary system	4643	MYO1E	OMIM:614131
HP:0000079	Abnormality of the urinary system	64423	INF2	ORPHA:656
HP:0000079	Abnormality of the urinary system	64423	INF2	OMIM:613237
HP:0000079	Abnormality of the urinary system	64423	INF2	OMIM:614455
HP:0000079	Abnormality of the urinary system	26130	GAPVD1	ORPHA:656
HP:0000079	Abnormality of the urinary system	51479	ANKFY1	ORPHA:656
HP:0000079	Abnormality of the urinary system	54443	ANLN	ORPHA:656
HP:0000079	Abnormality of the urinary system	54443	ANLN	OMIM:616032
HP:0000079	Abnormality of the urinary system	2013	EMP2	ORPHA:656
HP:0000079	Abnormality of the urinary system	79023	NUP37	ORPHA:656
HP:0000079	Abnormality of the urinary system	51196	PLCE1	ORPHA:656
HP:0000079	Abnormality of the urinary system	51196	PLCE1	OMIM:610725
HP:0000079	Abnormality of the urinary system	79902	NUP85	ORPHA:656
HP:0000079	Abnormality of the urinary system	79902	NUP85	OMIM:618176
HP:0000079	Abnormality of the urinary system	396	ARHGDIA	ORPHA:656
HP:0000079	Abnormality of the urinary system	79934	COQ8B	ORPHA:656
HP:0000079	Abnormality of the urinary system	79934	COQ8B	OMIM:615573
HP:0000079	Abnormality of the urinary system	23279	NUP160	ORPHA:656
HP:0000079	Abnormality of the urinary system	23279	NUP160	OMIM:618178
HP:0000079	Abnormality of the urinary system	9863	MAGI2	ORPHA:656
HP:0000079	Abnormality of the urinary system	8542	APOL1	ORPHA:656
HP:0000079	Abnormality of the urinary system	8542	APOL1	OMIM:612551
HP:0000079	Abnormality of the urinary system	54885	TBC1D8B	ORPHA:656
HP:0000079	Abnormality of the urinary system	54885	TBC1D8B	OMIM:301028
HP:0000079	Abnormality of the urinary system	7827	NPHS2	ORPHA:656
HP:0000079	Abnormality of the urinary system	7827	NPHS2	OMIM:600995
HP:0000079	Abnormality of the urinary system	83478	ARHGAP24	ORPHA:656
HP:0000079	Abnormality of the urinary system	23500	DAAM2	ORPHA:656
HP:0000079	Abnormality of the urinary system	23500	DAAM2	OMIM:619263
HP:0000079	Abnormality of the urinary system	27235	COQ2	OMIM:607426
HP:0000079	Abnormality of the urinary system	2538	G6PC1	OMIM:232200
HP:0000079	Abnormality of the urinary system	3911	LAMA5	OMIM:620049
HP:0000079	Abnormality of the urinary system	51004	COQ6	OMIM:614650
HP:0000079	Abnormality of the urinary system	79731	NARS2	OMIM:616239
HP:0000079	Abnormality of the urinary system	6559	SLC12A3	ORPHA:358
HP:0000079	Abnormality of the urinary system	8651	SOCS1	OMIM:619375
HP:0000079	Abnormality of the urinary system	975	CD81	OMIM:613496
HP:0000079	Abnormality of the urinary system	50943	FOXP3	OMIM:304790
HP:0000079	Abnormality of the urinary system	81603	TRIM8	OMIM:619428
HP:0000079	Abnormality of the urinary system	708	C1QBP	OMIM:617713
HP:0000079	Abnormality of the urinary system	79415	CYBC1	OMIM:618935
HP:0000079	Abnormality of the urinary system	5265	SERPINA1	ORPHA:60
HP:0000079	Abnormality of the urinary system	5896	RAG1	ORPHA:39041
HP:0000079	Abnormality of the urinary system	5897	RAG2	ORPHA:39041
HP:0000079	Abnormality of the urinary system	64421	DCLRE1C	ORPHA:39041
HP:0000079	Abnormality of the urinary system	3575	IL7R	ORPHA:39041
HP:0000079	Abnormality of the urinary system	3561	IL2RG	ORPHA:39041
HP:0000079	Abnormality of the urinary system	64135	IFIH1	OMIM:615846
HP:0000079	Abnormality of the urinary system	26503	SLC17A5	OMIM:269920
HP:0000079	Abnormality of the urinary system	9365	KL	OMIM:617994
HP:0000079	Abnormality of the urinary system	3710	ITPR3	OMIM:222100
HP:0000079	Abnormality of the urinary system	3569	IL6	OMIM:222100
HP:0000079	Abnormality of the urinary system	7484	WNT9B	ORPHA:1848
HP:0000079	Abnormality of the urinary system	28514	DLL1	ORPHA:280200
HP:0000079	Abnormality of the urinary system	2253	FGF8	ORPHA:280200
HP:0000079	Abnormality of the urinary system	2253	FGF8	ORPHA:478
HP:0000079	Abnormality of the urinary system	6496	SIX3	ORPHA:280200
HP:0000079	Abnormality of the urinary system	7050	TGIF1	ORPHA:280200
HP:0000079	Abnormality of the urinary system	7546	ZIC2	ORPHA:280200
HP:0000079	Abnormality of the urinary system	2619	GAS1	ORPHA:280200
HP:0000079	Abnormality of the urinary system	84976	DISP1	ORPHA:280200
HP:0000079	Abnormality of the urinary system	2736	GLI2	ORPHA:280200
HP:0000079	Abnormality of the urinary system	8928	FOXH1	ORPHA:280200
HP:0000079	Abnormality of the urinary system	50937	CDON	ORPHA:280200
HP:0000079	Abnormality of the urinary system	3640	INSL3	OMIM:219050
HP:0000079	Abnormality of the urinary system	10371	SEMA3A	ORPHA:478
HP:0000079	Abnormality of the urinary system	81848	SPRY4	ORPHA:478
HP:0000079	Abnormality of the urinary system	23767	FLRT3	ORPHA:478
HP:0000079	Abnormality of the urinary system	79625	NDNF	ORPHA:478
HP:0000079	Abnormality of the urinary system	389549	FEZF1	ORPHA:478
HP:0000079	Abnormality of the urinary system	54756	IL17RD	ORPHA:478
HP:0000079	Abnormality of the urinary system	285025	CCDC141	ORPHA:478
HP:0000079	Abnormality of the urinary system	60675	PROK2	ORPHA:478
HP:0000079	Abnormality of the urinary system	1848	DUSP6	ORPHA:478
HP:0000079	Abnormality of the urinary system	6870	TACR3	ORPHA:478
HP:0000079	Abnormality of the urinary system	55717	WDR11	ORPHA:478
HP:0000079	Abnormality of the urinary system	9394	HS6ST1	ORPHA:478
HP:0000079	Abnormality of the urinary system	8820	HESX1	ORPHA:478
HP:0000079	Abnormality of the urinary system	8822	FGF17	ORPHA:478
HP:0000079	Abnormality of the urinary system	26227	PHGDH	OMIM:256520
HP:0000079	Abnormality of the urinary system	51422	PRKAG2	OMIM:261740
HP:0000079	Abnormality of the urinary system	11311	VPS45	OMIM:615285
HP:0000079	Abnormality of the urinary system	4519	MT-CYB	ORPHA:137675
HP:0000079	Abnormality of the urinary system	4437	MSH3	OMIM:617100
HP:0000079	Abnormality of the urinary system	4437	MSH3	ORPHA:480536
HP:0000079	Abnormality of the urinary system	79053	ALG8	OMIM:617874
HP:0000079	Abnormality of the urinary system	3295	HSD17B4	OMIM:261515
HP:0000079	Abnormality of the urinary system	83483	PLVAP	OMIM:618183
HP:0000079	Abnormality of the urinary system	7707	ZNF148	OMIM:617260
HP:0000079	Abnormality of the urinary system	29954	POMT2	OMIM:236670
HP:0000079	Abnormality of the urinary system	9215	LARGE1	OMIM:236670
HP:0000079	Abnormality of the urinary system	10585	POMT1	OMIM:236670
HP:0000079	Abnormality of the urinary system	2218	FKTN	OMIM:236670
HP:0000079	Abnormality of the urinary system	26173	INTS1	OMIM:618571
HP:0000079	Abnormality of the urinary system	2299	FOXI1	ORPHA:705
HP:0000079	Abnormality of the urinary system	5172	SLC26A4	ORPHA:705
HP:0000079	Abnormality of the urinary system	3090	HIC1	ORPHA:531
HP:0000079	Abnormality of the urinary system	5048	PAFAH1B1	ORPHA:531
HP:0000079	Abnormality of the urinary system	7531	YWHAE	ORPHA:531
HP:0000079	Abnormality of the urinary system	4750	NEK1	OMIM:263520
HP:0000079	Abnormality of the urinary system	219854	TMEM218	OMIM:619562
HP:0000079	Abnormality of the urinary system	169792	GLIS3	OMIM:610199
HP:0000079	Abnormality of the urinary system	4351	MPI	OMIM:602579
HP:0000079	Abnormality of the urinary system	51103	NDUFAF1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	91942	NDUFAF2	ORPHA:2609
HP:0000079	Abnormality of the urinary system	51300	TIMMDC1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4723	NDUFV1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	55572	FOXRED1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	284184	NDUFAF8	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4729	NDUFV2	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4694	NDUFA1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4726	NDUFS6	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4728	NDUFS8	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4722	NDUFS3	ORPHA:2609
HP:0000079	Abnormality of the urinary system	79133	NDUFAF5	ORPHA:2609
HP:0000079	Abnormality of the urinary system	126328	NDUFA11	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4709	NDUFB3	ORPHA:2609
HP:0000079	Abnormality of the urinary system	80224	NUBPL	ORPHA:2609
HP:0000079	Abnormality of the urinary system	29078	NDUFAF4	ORPHA:2609
HP:0000079	Abnormality of the urinary system	374291	NDUFS7	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4719	NDUFS1	ORPHA:2609
HP:0000079	Abnormality of the urinary system	4715	NDUFB9	ORPHA:2609
HP:0000079	Abnormality of the urinary system	3636	INPPL1	OMIM:258480
HP:0000079	Abnormality of the urinary system	92335	STRADA	ORPHA:500533
HP:0000079	Abnormality of the urinary system	92335	STRADA	OMIM:611087
HP:0000079	Abnormality of the urinary system	51119	SBDS	OMIM:260400
HP:0000079	Abnormality of the urinary system	134218	DNAJC21	OMIM:260400
HP:0000079	Abnormality of the urinary system	6729	SRP54	OMIM:260400
HP:0000079	Abnormality of the urinary system	6506	SLC1A2	OMIM:617105
HP:0000079	Abnormality of the urinary system	58528	RRAGD	OMIM:620152
HP:0000079	Abnormality of the urinary system	326	AIRE	OMIM:240300
HP:0000079	Abnormality of the urinary system	2530	FUT8	OMIM:618005
HP:0000079	Abnormality of the urinary system	5741	PTH	OMIM:146200
HP:0000079	Abnormality of the urinary system	529	ATP6V1E1	OMIM:617402
HP:0000079	Abnormality of the urinary system	57592	ZNF687	OMIM:616833
HP:0000079	Abnormality of the urinary system	5518	PPP2R1A	OMIM:616362
HP:0000079	Abnormality of the urinary system	5518	PPP2R1A	ORPHA:457284
HP:0000079	Abnormality of the urinary system	128674	PROKR2	OMIM:244200
HP:0000079	Abnormality of the urinary system	91801	ALKBH8	OMIM:618504
HP:0000079	Abnormality of the urinary system	54499	TMCO1	OMIM:213980
HP:0000079	Abnormality of the urinary system	8496	PPFIBP1	OMIM:620024
HP:0000079	Abnormality of the urinary system	3417	IDH1	ORPHA:99646
HP:0000079	Abnormality of the urinary system	55252	ASXL2	OMIM:617190
HP:0000079	Abnormality of the urinary system	50814	NSDHL	OMIM:308050
HP:0000079	Abnormality of the urinary system	3730	ANOS1	OMIM:308700
HP:0000079	Abnormality of the urinary system	57511	COG6	OMIM:614576
HP:0000079	Abnormality of the urinary system	55012	PPP2R3C	OMIM:618419
HP:0000079	Abnormality of the urinary system	51729	WBP11	OMIM:619227
HP:0000079	Abnormality of the urinary system	26057	ANKRD17	OMIM:619504
HP:0000079	Abnormality of the urinary system	158326	FREM1	OMIM:608980
HP:0000079	Abnormality of the urinary system	5340	PLG	OMIM:217090
HP:0000079	Abnormality of the urinary system	6095	RORA	OMIM:618060
HP:0000079	Abnormality of the urinary system	10093	ARPC4	OMIM:620141
HP:0000079	Abnormality of the urinary system	93210	PGAP3	ORPHA:247262
HP:0000079	Abnormality of the urinary system	284098	PIGW	ORPHA:247262
HP:0000079	Abnormality of the urinary system	27315	PGAP2	ORPHA:247262
HP:0000079	Abnormality of the urinary system	815	CAMK2A	OMIM:617798
HP:0000079	Abnormality of the urinary system	23116	TOGARAM1	OMIM:619185
HP:0000079	Abnormality of the urinary system	79971	WLS	OMIM:619648
HP:0000079	Abnormality of the urinary system	2065	ERBB3	OMIM:607598
HP:0000079	Abnormality of the urinary system	5648	MASP1	OMIM:257920
HP:0000079	Abnormality of the urinary system	388015	RTL1	ORPHA:254528
HP:0000079	Abnormality of the urinary system	8788	DLK1	ORPHA:254528
HP:0000079	Abnormality of the urinary system	55384	MEG3	ORPHA:254528
HP:0000079	Abnormality of the urinary system	5605	MAP2K2	ORPHA:1340
HP:0000079	Abnormality of the urinary system	6469	SHH	OMIM:142945
HP:0000079	Abnormality of the urinary system	10526	IPO8	OMIM:619472
HP:0000079	Abnormality of the urinary system	2892	GRIA3	ORPHA:364028
HP:0000079	Abnormality of the urinary system	55617	TASP1	OMIM:618950
HP:0000079	Abnormality of the urinary system	10491	CRTAP	OMIM:610682
HP:0000079	Abnormality of the urinary system	5236	PGM1	OMIM:614921
HP:0000079	Abnormality of the urinary system	6913	TBX15	OMIM:260660
HP:0000079	Abnormality of the urinary system	3773	KCNJ16	OMIM:619406
HP:0000079	Abnormality of the urinary system	7421	VDR	ORPHA:93160
HP:0000079	Abnormality of the urinary system	776	CACNA1D	OMIM:615474
HP:0000079	Abnormality of the urinary system	776	CACNA1D	ORPHA:369929
HP:0000079	Abnormality of the urinary system	1119	CHKA	OMIM:620023
HP:0000079	Abnormality of the urinary system	3756	KCNH1	OMIM:135500
HP:0000079	Abnormality of the urinary system	2200	FBN1	ORPHA:2833
HP:0000079	Abnormality of the urinary system	3872	KRT17	ORPHA:841
HP:0000079	Abnormality of the urinary system	10555	AGPAT2	OMIM:608594
HP:0000079	Abnormality of the urinary system	5333	PLCD1	ORPHA:2387
HP:0000079	Abnormality of the urinary system	9101	USP8	OMIM:219090
HP:0000079	Abnormality of the urinary system	26580	BSCL2	OMIM:269700
HP:0000079	Abnormality of the urinary system	8622	PDE8B	ORPHA:189439
HP:0000079	Abnormality of the urinary system	50940	PDE11A	ORPHA:189439
HP:0000079	Abnormality of the urinary system	92667	MGME1	ORPHA:352447
HP:0000079	Abnormality of the urinary system	2947	GSTM3	ORPHA:586
HP:0000079	Abnormality of the urinary system	1084	CEACAM3	ORPHA:586
HP:0000079	Abnormality of the urinary system	6556	SLC11A1	ORPHA:586
HP:0000079	Abnormality of the urinary system	51164	DCTN4	ORPHA:586
HP:0000079	Abnormality of the urinary system	3783	KCNN4	ORPHA:586
HP:0000079	Abnormality of the urinary system	4282	MIF	ORPHA:586
HP:0000079	Abnormality of the urinary system	6550	SLC9A3	ORPHA:586
HP:0000079	Abnormality of the urinary system	115019	SLC26A9	ORPHA:586
HP:0000079	Abnormality of the urinary system	11254	SLC6A14	ORPHA:586
HP:0000079	Abnormality of the urinary system	22802	CLCA4	ORPHA:586
HP:0000079	Abnormality of the urinary system	4680	CEACAM6	ORPHA:586
HP:0000079	Abnormality of the urinary system	9075	CLDN2	OMIM:301060
HP:0000079	Abnormality of the urinary system	6476	SI	OMIM:222900
HP:0000079	Abnormality of the urinary system	55367	PIDD1	OMIM:619827
HP:0000079	Abnormality of the urinary system	871	SERPINH1	OMIM:613848
HP:0000079	Abnormality of the urinary system	6720	SREBF1	OMIM:158310
HP:0000079	Abnormality of the urinary system	23395	LARS2	OMIM:617021
HP:0000079	Abnormality of the urinary system	10413	YAP1	ORPHA:1473
HP:0000079	Abnormality of the urinary system	10413	YAP1	OMIM:120433
HP:0000079	Abnormality of the urinary system	55109	AGGF1	ORPHA:90308
HP:0000079	Abnormality of the urinary system	2159	F10	ORPHA:328
HP:0000079	Abnormality of the urinary system	2153	F5	ORPHA:326
HP:0000079	Abnormality of the urinary system	5345	SERPINF2	ORPHA:79
HP:0000079	Abnormality of the urinary system	3998	LMAN1	ORPHA:35909
HP:0000079	Abnormality of the urinary system	90411	MCFD2	ORPHA:35909
HP:0000079	Abnormality of the urinary system	6786	STIM1	OMIM:185070
HP:0000079	Abnormality of the urinary system	3673	ITGA2	ORPHA:853
HP:0000079	Abnormality of the urinary system	135228	CD109	ORPHA:853
HP:0000079	Abnormality of the urinary system	2658	GDF2	ORPHA:774
HP:0000079	Abnormality of the urinary system	94	ACVRL1	ORPHA:774
HP:0000079	Abnormality of the urinary system	2022	ENG	ORPHA:774
HP:0000079	Abnormality of the urinary system	5371	PML	ORPHA:520
HP:0000079	Abnormality of the urinary system	5914	RARA	ORPHA:520
HP:0000079	Abnormality of the urinary system	359948	IRF2BP2	ORPHA:520
HP:0000079	Abnormality of the urinary system	81608	FIP1L1	ORPHA:520
HP:0000079	Abnormality of the urinary system	64859	NABP1	ORPHA:520
HP:0000079	Abnormality of the urinary system	6777	STAT5B	ORPHA:520
HP:0000079	Abnormality of the urinary system	4926	NUMA1	ORPHA:520
HP:0000079	Abnormality of the urinary system	7704	ZBTB16	ORPHA:520
HP:0000079	Abnormality of the urinary system	79718	TBL1XR1	ORPHA:520
HP:0000079	Abnormality of the urinary system	712	C1QA	OMIM:613652
HP:0000079	Abnormality of the urinary system	5238	PGM3	ORPHA:443811
HP:0000079	Abnormality of the urinary system	5238	PGM3	OMIM:615816
HP:0000079	Abnormality of the urinary system	3293	HSD17B3	ORPHA:752
HP:0000079	Abnormality of the urinary system	5106	PCK2	OMIM:261650
HP:0000079	Abnormality of the urinary system	9526	MPDU1	OMIM:609180
HP:0000079	Abnormality of the urinary system	9526	MPDU1	ORPHA:79323
HP:0000079	Abnormality of the urinary system	1741	DLG3	OMIM:300850
HP:0000079	Abnormality of the urinary system	54941	RNF125	OMIM:616260
HP:0000079	Abnormality of the urinary system	1760	DMPK	ORPHA:589821
HP:0000079	Abnormality of the urinary system	389827	MYMK	ORPHA:1358
HP:0000079	Abnormality of the urinary system	101929726	MYMX	ORPHA:1358
HP:0000079	Abnormality of the urinary system	372	ARCN1	OMIM:617164
HP:0000079	Abnormality of the urinary system	6948	TCN2	ORPHA:859
HP:0000079	Abnormality of the urinary system	226	ALDOA	ORPHA:57
HP:0000079	Abnormality of the urinary system	3949	LDLR	ORPHA:391665
HP:0000079	Abnormality of the urinary system	255738	PCSK9	ORPHA:391665
HP:0000079	Abnormality of the urinary system	26119	LDLRAP1	ORPHA:391665
HP:0000079	Abnormality of the urinary system	338	APOB	ORPHA:391665
HP:0000079	Abnormality of the urinary system	64240	ABCG5	ORPHA:391665
HP:0000079	Abnormality of the urinary system	64241	ABCG8	ORPHA:391665
HP:0000079	Abnormality of the urinary system	55249	YY1AP1	OMIM:602531
HP:0000079	Abnormality of the urinary system	6772	STAT1	ORPHA:391487
HP:0000079	Abnormality of the urinary system	10043	TOM1	ORPHA:391487
HP:0000079	Abnormality of the urinary system	5456	POU3F4	ORPHA:1435
HP:0000079	Abnormality of the urinary system	1374	CPT1A	ORPHA:156
HP:0000079	Abnormality of the urinary system	1374	CPT1A	OMIM:255120
HP:0000079	Abnormality of the urinary system	525	ATP6V1B1	OMIM:267300
HP:0000079	Abnormality of the urinary system	57551	TAOK1	OMIM:619575
HP:0000079	Abnormality of the urinary system	133686	NADK2	ORPHA:431361
HP:0000079	Abnormality of the urinary system	5257	PHKB	ORPHA:79240
HP:0000079	Abnormality of the urinary system	5256	PHKA2	ORPHA:264580
HP:0000079	Abnormality of the urinary system	5261	PHKG2	ORPHA:264580
HP:0000079	Abnormality of the urinary system	790	CAD	OMIM:616457
HP:0000079	Abnormality of the urinary system	100	ADA	OMIM:102700
HP:0000079	Abnormality of the urinary system	11222	MRPL3	OMIM:614582
HP:0000079	Abnormality of the urinary system	283209	PGM2L1	OMIM:620191
HP:0000079	Abnormality of the urinary system	51660	MPC1	OMIM:614741
HP:0000079	Abnormality of the urinary system	80308	FLAD1	OMIM:255100
HP:0000079	Abnormality of the urinary system	686	BTD	OMIM:253260
HP:0000079	Abnormality of the urinary system	686	BTD	ORPHA:79241
HP:0000079	Abnormality of the urinary system	60386	SLC25A19	ORPHA:99742
HP:0000079	Abnormality of the urinary system	79581	SLC52A2	OMIM:614707
HP:0000079	Abnormality of the urinary system	84300	UQCC2	OMIM:615824
HP:0000079	Abnormality of the urinary system	5091	PC	OMIM:266150
HP:0000079	Abnormality of the urinary system	760	CA2	ORPHA:2785
HP:0000079	Abnormality of the urinary system	3643	INSR	ORPHA:508
HP:0000079	Abnormality of the urinary system	249	ALPL	OMIM:241500
HP:0000079	Abnormality of the urinary system	1027	CDKN1B	ORPHA:652
HP:0000079	Abnormality of the urinary system	1026	CDKN1A	ORPHA:652
HP:0000079	Abnormality of the urinary system	1030	CDKN2B	ORPHA:652
HP:0000079	Abnormality of the urinary system	1031	CDKN2C	ORPHA:652
HP:0000079	Abnormality of the urinary system	444	ASPH	OMIM:601552
HP:0000079	Abnormality of the urinary system	4524	MTHFR	OMIM:236250
HP:0000079	Abnormality of the urinary system	4524	MTHFR	ORPHA:395
HP:0000079	Abnormality of the urinary system	3054	HCFC1	OMIM:309541
HP:0000079	Abnormality of the urinary system	875	CBS	OMIM:236200
HP:0000079	Abnormality of the urinary system	5826	ABCD4	OMIM:614857
HP:0000079	Abnormality of the urinary system	4548	MTR	OMIM:250940
HP:0000079	Abnormality of the urinary system	27249	MMADHC	OMIM:277410
HP:0000079	Abnormality of the urinary system	6448	SGSH	OMIM:252900
HP:0000079	Abnormality of the urinary system	138050	HGSNAT	OMIM:252930
HP:0000079	Abnormality of the urinary system	4669	NAGLU	OMIM:252920
HP:0000079	Abnormality of the urinary system	2799	GNS	OMIM:252940
HP:0000079	Abnormality of the urinary system	11281	POU6F2	OMIM:601583
HP:0000079	Abnormality of the urinary system	11281	POU6F2	ORPHA:654
HP:0000079	Abnormality of the urinary system	716	C1S	OMIM:617174
HP:0000079	Abnormality of the urinary system	9158	FIBP	ORPHA:500095
HP:0000079	Abnormality of the urinary system	9158	FIBP	OMIM:617107
HP:0000079	Abnormality of the urinary system	9759	HDAC4	ORPHA:1001
HP:0000079	Abnormality of the urinary system	5978	REST	OMIM:616806
HP:0000079	Abnormality of the urinary system	5978	REST	ORPHA:654
HP:0000079	Abnormality of the urinary system	60529	ALX4	ORPHA:52022
HP:0000079	Abnormality of the urinary system	51317	PHF21A	ORPHA:52022
HP:0000079	Abnormality of the urinary system	10155	TRIM28	ORPHA:654
HP:0000079	Abnormality of the urinary system	283120	H19	ORPHA:654
HP:0000079	Abnormality of the urinary system	283120	H19	ORPHA:2128
HP:0000079	Abnormality of the urinary system	283120	H19	OMIM:194070
HP:0000079	Abnormality of the urinary system	5727	PTCH1	ORPHA:77301
HP:0000079	Abnormality of the urinary system	9184	BUB3	ORPHA:1052
HP:0000079	Abnormality of the urinary system	9702	CEP57	ORPHA:1052
HP:0000079	Abnormality of the urinary system	4591	TRIM37	OMIM:253250
HP:0000079	Abnormality of the urinary system	51733	UPB1	OMIM:613161
HP:0000079	Abnormality of the urinary system	23533	PIK3R5	ORPHA:64753
HP:0000079	Abnormality of the urinary system	23064	SETX	ORPHA:64753
HP:0000079	Abnormality of the urinary system	1201	CLN3	ORPHA:228346
HP:0000079	Abnormality of the urinary system	51308	REEP2	ORPHA:401849
HP:0000079	Abnormality of the urinary system	51308	REEP2	OMIM:615625
HP:0000079	Abnormality of the urinary system	2670	GFAP	ORPHA:363722
HP:0000079	Abnormality of the urinary system	547	KIF1A	OMIM:610357
HP:0000079	Abnormality of the urinary system	2395	FXN	ORPHA:95
HP:0000079	Abnormality of the urinary system	6310	ATXN1	OMIM:164400
HP:0000079	Abnormality of the urinary system	5376	PMP22	ORPHA:3115
HP:0000079	Abnormality of the urinary system	4359	MPZ	ORPHA:3115
HP:0000079	Abnormality of the urinary system	3178	HNRNPA1	ORPHA:52430
HP:0000079	Abnormality of the urinary system	3181	HNRNPA2B1	ORPHA:52430
HP:0000079	Abnormality of the urinary system	2147	F2	ORPHA:325
HP:0000079	Abnormality of the urinary system	1594	CYP27B1	OMIM:264700
HP:0000079	Abnormality of the urinary system	1594	CYP27B1	ORPHA:289157
HP:0000079	Abnormality of the urinary system	120227	CYP2R1	ORPHA:289157
HP:0000079	Abnormality of the urinary system	1716	DGUOK	OMIM:251880
HP:0000079	Abnormality of the urinary system	23479	ISCU	OMIM:255125
HP:0000079	Abnormality of the urinary system	90523	MLIP	OMIM:620138
HP:0000079	Abnormality of the urinary system	6443	SGCB	ORPHA:119
HP:0000079	Abnormality of the urinary system	3030	HADHA	OMIM:609015
HP:0000079	Abnormality of the urinary system	203859	ANO5	ORPHA:206549
HP:0000079	Abnormality of the urinary system	38	ACAT1	ORPHA:134
HP:0000079	Abnormality of the urinary system	5105	PCK1	OMIM:261680
HP:0000079	Abnormality of the urinary system	1537	CYC1	OMIM:615453
HP:0000079	Abnormality of the urinary system	5019	OXCT1	OMIM:245050
HP:0000079	Abnormality of the urinary system	128989	TANGO2	ORPHA:480864
HP:0000079	Abnormality of the urinary system	128989	TANGO2	OMIM:616878
HP:0000079	Abnormality of the urinary system	6566	SLC16A1	OMIM:616095
HP:0000079	Abnormality of the urinary system	3034	HAL	OMIM:235800
HP:0000079	Abnormality of the urinary system	3034	HAL	ORPHA:2157
HP:0000079	Abnormality of the urinary system	286053	NSMCE2	OMIM:617253
HP:0000079	Abnormality of the urinary system	57570	TRMT5	OMIM:616539
HP:0000079	Abnormality of the urinary system	2998	GYS2	ORPHA:2089
HP:0000079	Abnormality of the urinary system	387700	SLC16A12	OMIM:612018
HP:0000079	Abnormality of the urinary system	8792	TNFRSF11A	OMIM:602080
HP:0000079	Abnormality of the urinary system	8792	TNFRSF11A	OMIM:174810
HP:0000079	Abnormality of the urinary system	5352	PLOD2	OMIM:609220
HP:0000079	Abnormality of the urinary system	2731	GLDC	OMIM:605899
HP:0000079	Abnormality of the urinary system	275	AMT	OMIM:605899
HP:0000079	Abnormality of the urinary system	3712	IVD	OMIM:243500
HP:0000079	Abnormality of the urinary system	153201	SLC36A2	OMIM:242600
HP:0000079	Abnormality of the urinary system	153201	SLC36A2	ORPHA:42062
HP:0000079	Abnormality of the urinary system	153201	SLC36A2	OMIM:138500
HP:0000079	Abnormality of the urinary system	27247	NFU1	OMIM:605711
HP:0000079	Abnormality of the urinary system	348932	SLC6A18	ORPHA:42062
HP:0000079	Abnormality of the urinary system	54716	SLC6A20	ORPHA:42062
HP:0000079	Abnormality of the urinary system	340024	SLC6A19	ORPHA:42062
HP:0000079	Abnormality of the urinary system	34	ACADM	OMIM:201450
HP:0000079	Abnormality of the urinary system	5625	PRODH	OMIM:239500
HP:0000079	Abnormality of the urinary system	64087	MCCC2	OMIM:210210
HP:0000079	Abnormality of the urinary system	5095	PCCA	OMIM:606054
HP:0000079	Abnormality of the urinary system	5096	PCCB	OMIM:606054
HP:0000079	Abnormality of the urinary system	8074	FGF23	ORPHA:89937
HP:0000079	Abnormality of the urinary system	5745	PTH1R	OMIM:156400
HP:0000079	Abnormality of the urinary system	142680	SLC34A3	ORPHA:157215
HP:0000079	Abnormality of the urinary system	1758	DMP1	ORPHA:289176
HP:0000079	Abnormality of the urinary system	5167	ENPP1	ORPHA:289176
HP:0000079	Abnormality of the urinary system	5167	ENPP1	ORPHA:51608
HP:0000079	Abnormality of the urinary system	5167	ENPP1	OMIM:613312
HP:0000079	Abnormality of the urinary system	368	ABCC6	ORPHA:51608
HP:0000079	Abnormality of the urinary system	9368	NHERF1	OMIM:612287
HP:0000079	Abnormality of the urinary system	2778	GNAS	ORPHA:562
HP:0000079	Abnormality of the urinary system	6514	SLC2A2	OMIM:227810
HP:0000079	Abnormality of the urinary system	6514	SLC2A2	ORPHA:2088
HP:0000079	Abnormality of the urinary system	51181	DCXR	OMIM:260800
HP:0000079	Abnormality of the urinary system	112817	HOGA1	ORPHA:93600
HP:0000079	Abnormality of the urinary system	84133	ZNRF3	ORPHA:1501
HP:0000079	Abnormality of the urinary system	7157	TP53	ORPHA:1501
HP:0000079	Abnormality of the urinary system	5573	PRKAR1A	ORPHA:1501
HP:0000079	Abnormality of the urinary system	1499	CTNNB1	ORPHA:1501
HP:0000079	Abnormality of the urinary system	1029	CDKN2A	ORPHA:1501
HP:0000079	Abnormality of the urinary system	7015	TERT	ORPHA:1501
HP:0000079	Abnormality of the urinary system	5251	PHEX	ORPHA:89936
HP:0000079	Abnormality of the urinary system	3766	KCNJ10	OMIM:612780
HP:0000079	Abnormality of the urinary system	10157	AASS	ORPHA:2203
HP:0000079	Abnormality of the urinary system	10157	AASS	ORPHA:3124
HP:0000079	Abnormality of the urinary system	9581	PREPL	OMIM:616224
HP:0000079	Abnormality of the urinary system	9581	PREPL	ORPHA:163690
HP:0000079	Abnormality of the urinary system	9581	PREPL	ORPHA:163693
HP:0000079	Abnormality of the urinary system	5495	PPM1B	ORPHA:163693
HP:0000079	Abnormality of the urinary system	79823	CAMKMT	ORPHA:163693
HP:0000079	Abnormality of the urinary system	26873	OPLAH	OMIM:260005
HP:0000079	Abnormality of the urinary system	79783	SUGCT	ORPHA:35706
HP:0000079	Abnormality of the urinary system	79783	SUGCT	OMIM:231690
HP:0000079	Abnormality of the urinary system	2639	GCDH	ORPHA:25
HP:0000079	Abnormality of the urinary system	2639	GCDH	OMIM:231670
HP:0000079	Abnormality of the urinary system	728294	D2HGDH	OMIM:600721
HP:0000079	Abnormality of the urinary system	2108	ETFA	OMIM:231680
HP:0000079	Abnormality of the urinary system	2109	ETFB	OMIM:231680
HP:0000079	Abnormality of the urinary system	2110	ETFDH	OMIM:231680
HP:0000079	Abnormality of the urinary system	1491	CTH	OMIM:219500
HP:0000079	Abnormality of the urinary system	1491	CTH	ORPHA:212
HP:0000079	Abnormality of the urinary system	55788	LMBRD1	OMIM:277380
HP:0000079	Abnormality of the urinary system	3242	HPD	OMIM:276710
HP:0000079	Abnormality of the urinary system	3242	HPD	OMIM:140350
HP:0000079	Abnormality of the urinary system	3242	HPD	ORPHA:2118
HP:0000079	Abnormality of the urinary system	6898	TAT	OMIM:276600
HP:0000079	Abnormality of the urinary system	7019	TFAM	OMIM:617156
HP:0000079	Abnormality of the urinary system	5498	PPOX	OMIM:176200
HP:0000079	Abnormality of the urinary system	5498	PPOX	ORPHA:79473
HP:0000079	Abnormality of the urinary system	3077	HFE	OMIM:176200
HP:0000079	Abnormality of the urinary system	10243	GPHN	OMIM:615501
HP:0000079	Abnormality of the urinary system	197322	ACSF3	ORPHA:289504
HP:0000079	Abnormality of the urinary system	3033	HADH	OMIM:231530
HP:0000079	Abnormality of the urinary system	3033	HADH	ORPHA:71212
HP:0000079	Abnormality of the urinary system	55065	SLC52A1	OMIM:615026
HP:0000079	Abnormality of the urinary system	28976	ACAD9	OMIM:611126
HP:0000079	Abnormality of the urinary system	28976	ACAD9	ORPHA:99901
HP:0000079	Abnormality of the urinary system	27034	ACAD8	ORPHA:79159
HP:0000079	Abnormality of the urinary system	6584	SLC22A5	OMIM:212140
HP:0000079	Abnormality of the urinary system	445	ASS1	OMIM:215700
HP:0000079	Abnormality of the urinary system	23474	ETHE1	ORPHA:51188
HP:0000079	Abnormality of the urinary system	23474	ETHE1	OMIM:602473
HP:0000079	Abnormality of the urinary system	10046	MAMLD1	ORPHA:456328
HP:0000079	Abnormality of the urinary system	4534	MTM1	ORPHA:456328
HP:0000079	Abnormality of the urinary system	3000	GUCY2D	OMIM:204000
HP:0000079	Abnormality of the urinary system	80207	OPA3	OMIM:258501
HP:0000079	Abnormality of the urinary system	131118	DNAJC19	OMIM:610198
HP:0000079	Abnormality of the urinary system	27429	HTRA2	OMIM:617248
HP:0000079	Abnormality of the urinary system	92609	TIMM50	OMIM:617698
HP:0000079	Abnormality of the urinary system	3155	HMGCL	ORPHA:20
HP:0000079	Abnormality of the urinary system	3155	HMGCL	OMIM:246450
HP:0000079	Abnormality of the urinary system	6530	SLC6A2	OMIM:604715
HP:0000079	Abnormality of the urinary system	435	ASL	ORPHA:23
HP:0000079	Abnormality of the urinary system	435	ASL	OMIM:207900
HP:0000079	Abnormality of the urinary system	1497	CTNS	OMIM:219800
HP:0000079	Abnormality of the urinary system	1497	CTNS	ORPHA:411629
HP:0000079	Abnormality of the urinary system	1497	CTNS	ORPHA:411634
HP:0000079	Abnormality of the urinary system	6505	SLC1A1	OMIM:222730
HP:0000079	Abnormality of the urinary system	4952	OCRL	OMIM:300555
HP:0000079	Abnormality of the urinary system	4952	OCRL	OMIM:309000
HP:0000079	Abnormality of the urinary system	4952	OCRL	ORPHA:534
HP:0000079	Abnormality of the urinary system	51095	TRNT1	OMIM:616084
HP:0000079	Abnormality of the urinary system	4574	MT-TS1	OMIM:220110
HP:0000079	Abnormality of the urinary system	4570	MT-TN	OMIM:220110
HP:0000079	Abnormality of the urinary system	6834	SURF1	OMIM:220110
HP:0000079	Abnormality of the urinary system	54914	FOCAD	OMIM:619991
HP:0000079	Abnormality of the urinary system	2592	GALT	OMIM:230400
HP:0000079	Abnormality of the urinary system	84334	COA8	ORPHA:436271
HP:0000079	Abnormality of the urinary system	10667	FARS2	OMIM:614946
HP:0000079	Abnormality of the urinary system	1184	CLCN5	OMIM:308990
HP:0000079	Abnormality of the urinary system	1184	CLCN5	OMIM:300009
HP:0000079	Abnormality of the urinary system	5830	PEX5	OMIM:214110
HP:0000079	Abnormality of the urinary system	1373	CPS1	ORPHA:147
HP:0000079	Abnormality of the urinary system	5009	OTC	ORPHA:664
HP:0000079	Abnormality of the urinary system	7372	UMPS	ORPHA:30
HP:0000079	Abnormality of the urinary system	617	BCS1L	OMIM:603358
HP:0000079	Abnormality of the urinary system	617	BCS1L	OMIM:124000
HP:0000079	Abnormality of the urinary system	4141	MARS1	OMIM:615486
HP:0000079	Abnormality of the urinary system	2628	GATM	OMIM:134600
HP:0000079	Abnormality of the urinary system	137682	NDUFAF6	OMIM:618913
HP:0000079	Abnormality of the urinary system	55503	TRPV6	ORPHA:417
HP:0000079	Abnormality of the urinary system	846	CASR	ORPHA:417
HP:0000079	Abnormality of the urinary system	846	CASR	OMIM:239200
HP:0000079	Abnormality of the urinary system	2729	GCLC	ORPHA:33574
HP:0000079	Abnormality of the urinary system	4758	NEU1	ORPHA:812
HP:0000079	Abnormality of the urinary system	1962	EHHADH	OMIM:615605
HP:0000079	Abnormality of the urinary system	540	ATP7B	OMIM:277900
HP:0000079	Abnormality of the urinary system	5189	PEX1	OMIM:214100
HP:0000079	Abnormality of the urinary system	4942	OAT	ORPHA:414
HP:0000079	Abnormality of the urinary system	2271	FH	OMIM:606812
HP:0000079	Abnormality of the urinary system	10559	SLC35A1	OMIM:603585
HP:0000079	Abnormality of the urinary system	100131801	PET100	OMIM:619055
HP:0000079	Abnormality of the urinary system	10841	FTCD	OMIM:229100
HP:0000079	Abnormality of the urinary system	10560	SLC19A2	OMIM:249270
HP:0000079	Abnormality of the urinary system	7084	TK2	OMIM:609560
HP:0000079	Abnormality of the urinary system	3172	HNF4A	OMIM:616026
HP:0000079	Abnormality of the urinary system	50628	GEMIN4	OMIM:617913
HP:0000079	Abnormality of the urinary system	8942	KYNU	OMIM:236800
HP:0000079	Abnormality of the urinary system	4668	NAGA	OMIM:609242
HP:0000079	Abnormality of the urinary system	91647	ATPAF2	OMIM:604273
HP:0000079	Abnormality of the urinary system	3081	HGD	ORPHA:56
HP:0000079	Abnormality of the urinary system	9056	SLC7A7	OMIM:222700
HP:0000079	Abnormality of the urinary system	26276	VPS33B	OMIM:208085
HP:0000079	Abnormality of the urinary system	8803	SUCLA2	OMIM:612073
HP:0000079	Abnormality of the urinary system	8803	SUCLA2	ORPHA:1933
HP:0000079	Abnormality of the urinary system	132158	GLYCTK	OMIM:220120
HP:0000079	Abnormality of the urinary system	9054	NFS1	OMIM:619386
HP:0000079	Abnormality of the urinary system	50484	RRM2B	OMIM:612075
HP:0000079	Abnormality of the urinary system	63894	VIPAS39	OMIM:613404
HP:0000079	Abnormality of the urinary system	26275	HIBCH	OMIM:250620
HP:0000079	Abnormality of the urinary system	2068	ERCC2	ORPHA:910
HP:0000079	Abnormality of the urinary system	7507	XPA	ORPHA:910
HP:0000079	Abnormality of the urinary system	2071	ERCC3	ORPHA:910
HP:0000079	Abnormality of the urinary system	7508	XPC	ORPHA:910
HP:0000079	Abnormality of the urinary system	1643	DDB2	ORPHA:910
HP:0000079	Abnormality of the urinary system	2072	ERCC4	ORPHA:910
HP:0000079	Abnormality of the urinary system	2073	ERCC5	ORPHA:910
HP:0000079	Abnormality of the urinary system	2582	GALE	OMIM:230350
HP:0000079	Abnormality of the urinary system	11005	SPINK5	ORPHA:634
HP:0000079	Abnormality of the urinary system	4337	MOCS1	OMIM:252150
HP:0000079	Abnormality of the urinary system	6821	SUOX	OMIM:272300
HP:0000079	Abnormality of the urinary system	6999	TDO2	OMIM:600627
HP:0000079	Abnormality of the urinary system	149775	GNAS-AS1	OMIM:603233
HP:0000079	Abnormality of the urinary system	8675	STX16	OMIM:603233
HP:0000079	Abnormality of the urinary system	8675	STX16	ORPHA:94089
HP:0000079	Abnormality of the urinary system	6557	SLC12A1	OMIM:601678
HP:0000079	Abnormality of the urinary system	3758	KCNJ1	OMIM:241200
HP:0000079	Abnormality of the urinary system	2767	GNA11	OMIM:145981
HP:0000079	Abnormality of the urinary system	55811	ADCY10	ORPHA:2197
HP:0000079	Abnormality of the urinary system	513	ATP5F1D	OMIM:618120
HP:0000079	Abnormality of the urinary system	125988	MICOS13	OMIM:618329
HP:0000079	Abnormality of the urinary system	125988	MICOS13	ORPHA:67047
HP:0000079	Abnormality of the urinary system	55750	AGK	OMIM:212350
HP:0000079	Abnormality of the urinary system	55210	ATAD3A	ORPHA:496790
HP:0000079	Abnormality of the urinary system	112812	FDX2	OMIM:251900
HP:0000079	Abnormality of the urinary system	514	ATP5F1E	OMIM:614053
HP:0000079	Abnormality of the urinary system	498	ATP5F1A	OMIM:615228
HP:0000079	Abnormality of the urinary system	6901	TAFAZZIN	OMIM:302060
HP:0000079	Abnormality of the urinary system	84947	SERAC1	OMIM:614739
HP:0000079	Abnormality of the urinary system	2990	GUSB	OMIM:253220
HP:0000079	Abnormality of the urinary system	3425	IDUA	OMIM:607014
HP:0000079	Abnormality of the urinary system	3423	IDS	OMIM:309900
HP:0000079	Abnormality of the urinary system	2328	FMO3	OMIM:602079
HP:0000079	Abnormality of the urinary system	2328	FMO3	ORPHA:468726
HP:0000079	Abnormality of the urinary system	2539	G6PD	OMIM:300908
HP:0000079	Abnormality of the urinary system	51251	NT5C3A	OMIM:266120
HP:0000079	Abnormality of the urinary system	9780	PIEZO1	OMIM:194380
HP:0000079	Abnormality of the urinary system	100303755	PET117	OMIM:619063
HP:0000079	Abnormality of the urinary system	4716	NDUFB10	OMIM:619003
HP:0000079	Abnormality of the urinary system	197257	LDHD	OMIM:245450
HP:0000079	Abnormality of the urinary system	4704	NDUFA9	OMIM:618247
HP:0000079	Abnormality of the urinary system	57128	LYRM4	OMIM:615595
HP:0000079	Abnormality of the urinary system	89874	SLC25A21	OMIM:618811
HP:0000079	Abnormality of the urinary system	54704	PDP1	ORPHA:79246
HP:0000079	Abnormality of the urinary system	54585	LZTFL1	OMIM:615994
HP:0000079	Abnormality of the urinary system	10677	AVIL	OMIM:618594
HP:0000079	Abnormality of the urinary system	977	CD151	OMIM:609057
HP:0000079	Abnormality of the urinary system	55764	IFT122	OMIM:218330
HP:0000079	Abnormality of the urinary system	55863	TMEM126B	OMIM:618250
HP:0000079	Abnormality of the urinary system	149461	CLDN19	OMIM:248190
HP:0000079	Abnormality of the urinary system	93649	MYOCD	OMIM:618719
HP:0000079	Abnormality of the urinary system	64127	NOD2	ORPHA:90340
HP:0000079	Abnormality of the urinary system	10568	SLC34A2	ORPHA:60025
HP:0000079	Abnormality of the urinary system	10682	EBP	OMIM:300960
HP:0000079	Abnormality of the urinary system	348180	CTU2	OMIM:618142
HP:0000079	Abnormality of the urinary system	84992	PIGY	OMIM:616809
HP:0000079	Abnormality of the urinary system	966	CD59	OMIM:612300
HP:0000079	Abnormality of the urinary system	55157	DARS2	ORPHA:137898
HP:0000079	Abnormality of the urinary system	23317	DNAJC13	ORPHA:411602
HP:0000079	Abnormality of the urinary system	1981	EIF4G1	ORPHA:411602
HP:0000079	Abnormality of the urinary system	55737	VPS35	ORPHA:411602
HP:0000079	Abnormality of the urinary system	120892	LRRK2	ORPHA:411602
HP:0000079	Abnormality of the urinary system	26058	GIGYF2	ORPHA:411602
HP:0000079	Abnormality of the urinary system	6622	SNCA	ORPHA:411602
HP:0000079	Abnormality of the urinary system	2317	FLNB	ORPHA:1190
HP:0000079	Abnormality of the urinary system	11231	SEC63	ORPHA:2924
HP:0000079	Abnormality of the urinary system	5589	PRKCSH	ORPHA:2924
HP:0000079	Abnormality of the urinary system	4041	LRP5	ORPHA:2924
HP:0000079	Abnormality of the urinary system	1186	CLCN7	OMIM:618541
HP:0000079	Abnormality of the urinary system	8449	DHX16	OMIM:618733
HP:0000079	Abnormality of the urinary system	10015	PDCD6IP	OMIM:620047
HP:0000079	Abnormality of the urinary system	476	ATP1A1	OMIM:618314
HP:0000079	Abnormality of the urinary system	476	ATP1A1	ORPHA:564178
HP:0000079	Abnormality of the urinary system	10686	CLDN16	OMIM:248250
HP:0000079	Abnormality of the urinary system	2591	GALNT3	OMIM:211900
HP:0000079	Abnormality of the urinary system	4552	MTRR	ORPHA:2169
HP:0000079	Abnormality of the urinary system	55858	TMEM165	OMIM:614727
HP:0000079	Abnormality of the urinary system	3078	CFHR1	OMIM:235400
HP:0000079	Abnormality of the urinary system	10878	CFHR3	OMIM:235400
HP:0000079	Abnormality of the urinary system	84168	ANTXR1	OMIM:230740
HP:0000079	Abnormality of the urinary system	6714	SRC	OMIM:114500
HP:0000079	Abnormality of the urinary system	10395	DLC1	OMIM:114500
HP:0000079	Abnormality of the urinary system	8313	AXIN2	OMIM:114500
HP:0000079	Abnormality of the urinary system	5782	PTPN12	OMIM:114500
HP:0000079	Abnormality of the urinary system	5320	PLA2G2A	OMIM:114500
HP:0000079	Abnormality of the urinary system	6790	AURKA	OMIM:114500
HP:0000079	Abnormality of the urinary system	1630	DCC	OMIM:114500
HP:0000079	Abnormality of the urinary system	27030	MLH3	OMIM:114500
HP:0000079	Abnormality of the urinary system	581	BAX	OMIM:114500
HP:0000079	Abnormality of the urinary system	25788	RAD54B	OMIM:114500
HP:0000079	Abnormality of the urinary system	699	BUB1	OMIM:114500
HP:0000079	Abnormality of the urinary system	7097	TLR2	OMIM:114500
HP:0000079	Abnormality of the urinary system	4163	MCC	OMIM:114500
HP:0000079	Abnormality of the urinary system	5157	PDGFRL	OMIM:114500
HP:0000079	Abnormality of the urinary system	5795	PTPRJ	OMIM:114500
HP:0000079	Abnormality of the urinary system	7030	TFE3	OMIM:300854
HP:0000079	Abnormality of the urinary system	79798	ARMC5	ORPHA:189427
HP:0000079	Abnormality of the urinary system	4968	OGG1	OMIM:144700
HP:0000079	Abnormality of the urinary system	11236	RNF139	OMIM:144700
HP:0000079	Abnormality of the urinary system	55193	PBRM1	OMIM:144700
HP:0000079	Abnormality of the urinary system	9817	KEAP1	ORPHA:276399
HP:0000079	Abnormality of the urinary system	23405	DICER1	ORPHA:276399
HP:0000079	Abnormality of the urinary system	7373	COL14A1	ORPHA:79501
HP:0000079	Abnormality of the urinary system	79719	AAGAB	ORPHA:79501
HP:0000079	Abnormality of the urinary system	10229	COQ7	OMIM:616733
HP:0000079	Abnormality of the urinary system	11274	USP18	OMIM:617397
HP:0000079	Abnormality of the urinary system	55191	NADSYN1	OMIM:618845
HP:0000079	Abnormality of the urinary system	57724	EPG5	ORPHA:1493
HP:0000079	Abnormality of the urinary system	2304	FOXE1	ORPHA:319487
HP:0000079	Abnormality of the urinary system	3026	HABP2	ORPHA:319487
HP:0000079	Abnormality of the urinary system	4233	MET	OMIM:605074
HP:0000079	Abnormality of the urinary system	5546	PRCC	OMIM:605074
HP:0000079	Abnormality of the urinary system	285362	SUMF1	ORPHA:585
HP:0000079	Abnormality of the urinary system	285362	SUMF1	OMIM:272200
HP:0000079	Abnormality of the urinary system	84572	GNPTG	OMIM:252605
HP:0000079	Abnormality of the urinary system	6023	RMRP	ORPHA:175
HP:0000079	Abnormality of the urinary system	5286	PIK3C2A	OMIM:618440
HP:0000079	Abnormality of the urinary system	79158	GNPTAB	OMIM:252600
HP:0000079	Abnormality of the urinary system	79158	GNPTAB	OMIM:252500
HP:0000079	Abnormality of the urinary system	51241	COX16	OMIM:619355
HP:0000079	Abnormality of the urinary system	55687	TRMU	OMIM:613070
HP:0000079	Abnormality of the urinary system	153642	ARSK	OMIM:619698
HP:0000079	Abnormality of the urinary system	411	ARSB	OMIM:253200
HP:0000079	Abnormality of the urinary system	5213	PFKM	OMIM:232800
HP:0000079	Abnormality of the urinary system	37	ACADVL	OMIM:201475
HP:0000079	Abnormality of the urinary system	729920	CRPPA	ORPHA:352479
HP:0000079	Abnormality of the urinary system	5255	PHKA1	OMIM:300559
HP:0000079	Abnormality of the urinary system	79147	FKRP	OMIM:607155
HP:0000079	Abnormality of the urinary system	383	ARG1	OMIM:207800
HP:0000079	Abnormality of the urinary system	383	ARG1	ORPHA:90
HP:0000079	Abnormality of the urinary system	50617	ATP6V0A4	OMIM:602722
HP:0000079	Abnormality of the urinary system	6521	SLC4A1	OMIM:611590
HP:0000079	Abnormality of the urinary system	6521	SLC4A1	OMIM:179800
HP:0000079	Abnormality of the urinary system	129563	DIS3L2	OMIM:267000
HP:0000079	Abnormality of the urinary system	1314	COPA	OMIM:616414
HP:0000079	Abnormality of the urinary system	54453	RIN2	OMIM:613075
HP:0000079	Abnormality of the urinary system	51256	TBC1D7	OMIM:248000
HP:0000079	Abnormality of the urinary system	27238	GPKOW	ORPHA:2570
HP:0000079	Abnormality of the urinary system	1718	DHCR24	ORPHA:35107
HP:0000079	Abnormality of the urinary system	5075	PAX1	ORPHA:2792
HP:0000079	Abnormality of the urinary system	10262	SF3B4	ORPHA:1788
HP:0000079	Abnormality of the urinary system	10210	TOPORS	ORPHA:2754
HP:0000079	Abnormality of the urinary system	317662	FAM149B1	ORPHA:2754
HP:0000079	Abnormality of the urinary system	9573	GDF3	ORPHA:2345
HP:0000079	Abnormality of the urinary system	4222	MEOX1	ORPHA:2345
HP:0000079	Abnormality of the urinary system	2811	GP1BA	ORPHA:274
HP:0000079	Abnormality of the urinary system	2815	GP9	ORPHA:274
HP:0000079	Abnormality of the urinary system	10606	PAICS	OMIM:619859
HP:0000079	Abnormality of the urinary system	4292	MLH1	ORPHA:587
HP:0000079	Abnormality of the urinary system	2956	MSH6	ORPHA:587
HP:0000079	Abnormality of the urinary system	4436	MSH2	ORPHA:587
HP:0000079	Abnormality of the urinary system	126792	B3GALT6	ORPHA:536467
HP:0000079	Abnormality of the urinary system	201163	FLCN	OMIM:135150
HP:0000079	Abnormality of the urinary system	25913	POT1	OMIM:616568
HP:0000079	Abnormality of the urinary system	64218	SEMA4A	ORPHA:440437
HP:0000079	Abnormality of the urinary system	657	BMPR1A	ORPHA:440437
HP:0000079	Abnormality of the urinary system	7486	WRN	ORPHA:902
HP:0000079	Abnormality of the urinary system	11200	CHEK2	ORPHA:524
HP:0000079	Abnormality of the urinary system	57231	SNX14	OMIM:616354
HP:0000079	Abnormality of the urinary system	57231	SNX14	ORPHA:397709
HP:0000079	Abnormality of the urinary system	745	MYRF	OMIM:618280
HP:0000079	Abnormality of the urinary system	5575	PRKAR1B	OMIM:619680
HP:0000079	Abnormality of the urinary system	649	BMP1	OMIM:614856
HP:0000079	Abnormality of the urinary system	165918	RNF168	ORPHA:420741
HP:0000079	Abnormality of the urinary system	6524	SLC5A2	OMIM:233100
HP:0000079	Abnormality of the urinary system	1757	SARDH	ORPHA:3129
HP:0000079	Abnormality of the urinary system	7498	XDH	OMIM:278300
HP:0000079	Abnormality of the urinary system	117581	TWIST2	ORPHA:1807
HP:0000079	Abnormality of the urinary system	6774	STAT3	ORPHA:99885
HP:0000079	Abnormality of the urinary system	5354	PLP1	ORPHA:280229
HP:0000079	Abnormality of the urinary system	3028	HSD17B10	ORPHA:391428
HP:0000079	Abnormality of the urinary system	2258	FGF13	OMIM:301058
HP:0000079	Abnormality of the urinary system	1182	CLCN3	OMIM:619512
HP:0000079	Abnormality of the urinary system	93627	TBCK	OMIM:616900
HP:0000079	Abnormality of the urinary system	10472	ZBTB18	OMIM:612337
HP:0000079	Abnormality of the urinary system	91179	SCARF2	OMIM:600920
HP:0000079	Abnormality of the urinary system	5297	PI4KA	OMIM:619708
HP:0000079	Abnormality of the urinary system	26281	FGF20	OMIM:615721
HP:0000079	Abnormality of the urinary system	2674	GFRA1	OMIM:619887
HP:0000079	Abnormality of the urinary system	4174	MCM5	OMIM:617564
HP:0000079	Abnormality of the urinary system	4338	MOCS2	OMIM:252160
HP:0000079	Abnormality of the urinary system	7153	TOP2A	ORPHA:635
HP:0000079	Abnormality of the urinary system	238	ALK	ORPHA:635
HP:0000079	Abnormality of the urinary system	389421	LIN28B	ORPHA:635
HP:0000079	Abnormality of the urinary system	4004	LMO1	ORPHA:635
HP:0000079	Abnormality of the urinary system	8929	PHOX2B	ORPHA:635
HP:0000079	Abnormality of the urinary system	6571	SLC18A2	OMIM:618049
HP:0000079	Abnormality of the urinary system	2584	GALK1	OMIM:230200
HP:0000079	Abnormality of the urinary system	4126	MANBA	OMIM:248510
HP:0000079	Abnormality of the urinary system	2517	FUCA1	OMIM:230000
HP:0000079	Abnormality of the urinary system	175	AGA	OMIM:208400
HP:0000079	Abnormality of the urinary system	175	AGA	ORPHA:93
HP:0000079	Abnormality of the urinary system	1280	COL2A1	ORPHA:485
HP:0000079	Abnormality of the urinary system	2720	GLB1	OMIM:253010
HP:0000079	Abnormality of the urinary system	2588	GALNS	OMIM:253000
HP:0000079	Abnormality of the urinary system	55768	NGLY1	OMIM:615273
HP:0000079	Abnormality of the urinary system	5428	POLG	OMIM:203700
HP:0000079	Abnormality of the urinary system	51116	MRPS2	OMIM:617950
HP:0000079	Abnormality of the urinary system	57393	CLTRN	ORPHA:2116
HP:0000079	Abnormality of the urinary system	1244	ABCC2	ORPHA:234
HP:0000079	Abnormality of the urinary system	1756	DMD	ORPHA:98895
HP:0000079	Abnormality of the urinary system	119559	SFXN4	OMIM:615578
HP:0000079	Abnormality of the urinary system	23417	MLYCD	OMIM:248360
HP:0000079	Abnormality of the urinary system	84693	MCEE	OMIM:251120
HP:0000079	Abnormality of the urinary system	51293	CD320	OMIM:613646
HP:0000079	Abnormality of the urinary system	326625	MMAB	OMIM:251110
HP:0000079	Abnormality of the urinary system	1806	DPYD	OMIM:274270
HP:0000079	Abnormality of the urinary system	1806	DPYD	ORPHA:1675
HP:0000079	Abnormality of the urinary system	1807	DPYS	OMIM:222748
HP:0000079	Abnormality of the urinary system	10149	ADGRG2	ORPHA:48
HP:0000079	Abnormality of the urinary system	1080	CFTR	ORPHA:48
HP:0000079	Abnormality of the urinary system	11146	GLMN	ORPHA:83454
HP:0000079	Abnormality of the urinary system	55690	PACS1	ORPHA:329224
HP:0000079	Abnormality of the urinary system	65250	CPLANE1	OMIM:614615
HP:0000079	Abnormality of the urinary system	55650	PIGV	OMIM:239300
HP:0000079	Abnormality of the urinary system	5551	PRF1	ORPHA:540
HP:0000079	Abnormality of the urinary system	8676	STX11	ORPHA:540
HP:0000079	Abnormality of the urinary system	201294	UNC13D	ORPHA:540
HP:0000079	Abnormality of the urinary system	6813	STXBP2	ORPHA:540
HP:0000079	Abnormality of the urinary system	1019	CDK4	ORPHA:99971
HP:0000079	Abnormality of the urinary system	6809	STX3	ORPHA:2290
HP:0000079	Abnormality of the urinary system	4645	MYO5B	ORPHA:2290
HP:0000079	Abnormality of the urinary system	1534	CYB561	OMIM:618182
HP:0000079	Abnormality of the urinary system	5422	POLA1	OMIM:301220
HP:0000079	Abnormality of the urinary system	5317	PKP1	ORPHA:158668
HP:0000079	Abnormality of the urinary system	2324	FLT4	OMIM:153100
HP:0000079	Abnormality of the urinary system	26277	TINF2	OMIM:613990
HP:0000079	Abnormality of the urinary system	131669	UROC1	OMIM:276880
HP:0000079	Abnormality of the urinary system	131669	UROC1	ORPHA:210128
HP:0000079	Abnormality of the urinary system	3418	IDH2	OMIM:613657
HP:0000079	Abnormality of the urinary system	866	SERPINA6	OMIM:611489
HP:0000079	Abnormality of the urinary system	4967	OGDH	ORPHA:31
HP:0000079	Abnormality of the urinary system	9488	PIGB	OMIM:618580
HP:0000079	Abnormality of the urinary system	2746	GLUD1	ORPHA:35878
HP:0000079	Abnormality of the urinary system	27010	TPK1	OMIM:614458
HP:0000079	Abnormality of the urinary system	1738	DLD	ORPHA:2394
HP:0000079	Abnormality of the urinary system	6576	SLC25A1	OMIM:615182
HP:0000079	Abnormality of the urinary system	10916	MAGED2	OMIM:300971
HP:0000079	Abnormality of the urinary system	1861	TOR1A	OMIM:618947
HP:0000079	Abnormality of the urinary system	1591	CYP24A1	OMIM:143880
HP:0000079	Abnormality of the urinary system	9493	KIF23	OMIM:105600
HP:0000079	Abnormality of the urinary system	3716	JAK1	OMIM:618999
HP:0000079	Abnormality of the urinary system	8367	H4C5	OMIM:619950
HP:0000079	Abnormality of the urinary system	1063	CENPF	OMIM:243605
HP:0000079	Abnormality of the urinary system	5081	PAX7	OMIM:618578
HP:0000079	Abnormality of the urinary system	2157	F8	ORPHA:169802
HP:0000079	Abnormality of the urinary system	3674	ITGA2B	ORPHA:849
HP:0000079	Abnormality of the urinary system	3690	ITGB3	ORPHA:849
HP:0000079	Abnormality of the urinary system	1650	DDOST	ORPHA:300536
HP:0000079	Abnormality of the urinary system	375056	MIA3	OMIM:619269
HP:0000079	Abnormality of the urinary system	51124	IER3IP1	OMIM:614231
HP:0000079	Abnormality of the urinary system	55610	VPS50	OMIM:619685
HP:0000079	Abnormality of the urinary system	56246	MRAP	ORPHA:361
HP:0000079	Abnormality of the urinary system	4158	MC2R	ORPHA:361
HP:0000079	Abnormality of the urinary system	23530	NNT	ORPHA:361
HP:0000079	Abnormality of the urinary system	10587	TXNRD2	ORPHA:361
HP:0000079	Abnormality of the urinary system	1585	CYP11B2	ORPHA:556030
HP:0000079	Abnormality of the urinary system	5880	RAC2	OMIM:608203
HP:0000079	Abnormality of the urinary system	8425	LTBP4	OMIM:613177
HP:0000079	Abnormality of the urinary system	4914	NTRK1	ORPHA:642
HP:0000079	Abnormality of the urinary system	91461	PKDCC	OMIM:618821
HP:0000079	Abnormality of the urinary system	6522	SLC4A2	OMIM:620366
HP:0000079	Abnormality of the urinary system	5442	POLRMT	OMIM:619743
HP:0000079	Abnormality of the urinary system	7381	UQCRB	OMIM:615158
HP:0000079	Abnormality of the urinary system	4329	ALDH6A1	OMIM:614105
HP:0000079	Abnormality of the urinary system	9361	LONP1	ORPHA:79243
HP:0000079	Abnormality of the urinary system	5160	PDHA1	ORPHA:79243
HP:0000079	Abnormality of the urinary system	51601	LIPT1	OMIM:616299
HP:0000079	Abnormality of the urinary system	4088	SMAD3	ORPHA:284984
HP:0000079	Abnormality of the urinary system	403	ARL3	OMIM:618161
HP:0000079	Abnormality of the urinary system	57104	PNPLA2	ORPHA:565612
HP:0000079	Abnormality of the urinary system	28234	SLCO1B3	ORPHA:3111
HP:0000079	Abnormality of the urinary system	10599	SLCO1B1	ORPHA:3111
HP:0000079	Abnormality of the urinary system	85007	PHYKPL	OMIM:615011
HP:0000079	Abnormality of the urinary system	29958	DMGDH	OMIM:605850
HP:0000079	Abnormality of the urinary system	3795	KHK	ORPHA:2056
HP:0000079	Abnormality of the urinary system	644	BLVRA	OMIM:614156
HP:0000079	Abnormality of the urinary system	161742	SPRED1	ORPHA:137605
HP:0000079	Abnormality of the urinary system	5792	PTPRF	OMIM:616001
HP:0000079	Abnormality of the urinary system	4882	NPR2	OMIM:615923
HP:0000079	Abnormality of the urinary system	443	ASPA	OMIM:271900
HP:0000079	Abnormality of the urinary system	64849	SLC13A3	OMIM:618384
HP:0000079	Abnormality of the urinary system	64902	AGXT2	OMIM:210100
HP:0000079	Abnormality of the urinary system	200205	IBA57	OMIM:615330
HP:0000079	Abnormality of the urinary system	9154	SLC28A1	OMIM:618477
HP:0000079	Abnormality of the urinary system	4598	MVK	OMIM:260920
HP:0000079	Abnormality of the urinary system	4598	MVK	OMIM:610377
HP:0000079	Abnormality of the urinary system	7289	TULP3	OMIM:619902
HP:0000079	Abnormality of the urinary system	6341	SCO1	OMIM:619048
HP:0000079	Abnormality of the urinary system	763	CA5A	OMIM:615751
HP:0000079	Abnormality of the urinary system	5184	PEPD	OMIM:170100
HP:0000079	Abnormality of the urinary system	36	ACADSB	OMIM:610006
HP:0000079	Abnormality of the urinary system	4982	TNFRSF11B	OMIM:239000
HP:0000079	Abnormality of the urinary system	5092	PCBD1	OMIM:264070
HP:0000079	Abnormality of the urinary system	3141	HLCS	OMIM:253270
HP:0000079	Abnormality of the urinary system	56922	MCCC1	OMIM:210200
HP:0000079	Abnormality of the urinary system	2212	FCGR2A	OMIM:152700
HP:0000079	Abnormality of the urinary system	2213	FCGR2B	OMIM:152700
HP:0000079	Abnormality of the urinary system	1773	DNASE1	OMIM:152700
HP:0000079	Abnormality of the urinary system	54805	CNNM2	OMIM:613882
HP:0000079	Abnormality of the urinary system	6578	SLCO2A1	OMIM:167100
HP:0000079	Abnormality of the urinary system	5053	PAH	OMIM:261600
HP:0000079	Abnormality of the urinary system	10166	SLC25A15	OMIM:238970
HP:0000079	Abnormality of the urinary system	55526	DHTKD1	OMIM:204750
HP:0000079	Abnormality of the urinary system	471	ATIC	OMIM:608688
HP:0000079	Abnormality of the urinary system	166785	MMAA	OMIM:251100
HP:0000079	Abnormality of the urinary system	79944	L2HGDH	OMIM:236792
HP:0000079	Abnormality of the urinary system	10165	SLC25A13	ORPHA:247598
HP:0000079	Abnormality of the urinary system	2203	FBP1	OMIM:229700
HP:0000079	Abnormality of the urinary system	2203	FBP1	ORPHA:348
HP:0000079	Abnormality of the urinary system	2710	GK	OMIM:307030
HP:0000079	Abnormality of the urinary system	7390	UROS	OMIM:263700
HP:0000079	Abnormality of the urinary system	7389	UROD	ORPHA:95159
HP:0000079	Abnormality of the urinary system	286410	ATP11C	OMIM:301015
HP:0000079	Abnormality of the urinary system	5837	PYGM	OMIM:232600
HP:0000079	Abnormality of the urinary system	5837	PYGM	ORPHA:368
HP:0000079	Abnormality of the urinary system	1371	CPOX	ORPHA:79273
HP:0000079	Abnormality of the urinary system	6718	AKR1D1	ORPHA:79303
HP:0000079	Abnormality of the urinary system	210	ALAD	ORPHA:100924
HP:0000079	Abnormality of the urinary system	8291	DYSF	ORPHA:268
HP:0000079	Abnormality of the urinary system	4683	NBN	ORPHA:647
HP:0000079	Abnormality of the urinary system	55612	FERMT1	ORPHA:2908
HP:0000079	Abnormality of the urinary system	83550	GPR101	ORPHA:963
HP:0000079	Abnormality of the urinary system	9049	AIP	ORPHA:963
HP:0000079	Abnormality of the urinary system	23111	SPART	ORPHA:101000
HP:0000079	Abnormality of the urinary system	146206	CARMIL2	OMIM:618131
HP:0000079	Abnormality of the urinary system	788	SLC25A20	ORPHA:159
HP:0000079	Abnormality of the urinary system	92579	G6PC3	OMIM:612541
HP:0000079	Abnormality of the urinary system	894	CCND2	ORPHA:83473
HP:0000079	Abnormality of the urinary system	5296	PIK3R2	ORPHA:83473
HP:0000079	Abnormality of the urinary system	10000	AKT3	ORPHA:83473
HP:0000079	Abnormality of the urinary system	22930	RAB3GAP1	ORPHA:2510
HP:0000079	Abnormality of the urinary system	25782	RAB3GAP2	ORPHA:2510
HP:0000079	Abnormality of the urinary system	22931	RAB18	ORPHA:2510
HP:0000079	Abnormality of the urinary system	128637	TBC1D20	ORPHA:2510
HP:0000079	Abnormality of the urinary system	51322	WAC	ORPHA:466950
HP:0000079	Abnormality of the urinary system	4297	KMT2A	ORPHA:319182
HP:0000079	Abnormality of the urinary system	80169	CTC1	ORPHA:1775
HP:0000079	Abnormality of the urinary system	55651	NHP2	ORPHA:1775
HP:0000079	Abnormality of the urinary system	79650	USB1	ORPHA:1775
HP:0000079	Abnormality of the urinary system	55135	WRAP53	ORPHA:1775
HP:0000079	Abnormality of the urinary system	51750	RTEL1	ORPHA:1775
HP:0000079	Abnormality of the urinary system	4869	NPM1	ORPHA:1775
HP:0000079	Abnormality of the urinary system	7012	TERC	ORPHA:1775
HP:0000079	Abnormality of the urinary system	55505	NOP10	ORPHA:1775
HP:0000079	Abnormality of the urinary system	5073	PARN	ORPHA:1775
HP:0000079	Abnormality of the urinary system	7298	TYMS	ORPHA:1775
HP:0000079	Abnormality of the urinary system	627	BDNF	ORPHA:893
HP:0000079	Abnormality of the urinary system	79827	CLMP	ORPHA:2301
HP:0000079	Abnormality of the urinary system	1583	CYP11A1	ORPHA:289548
HP:0000079	Abnormality of the urinary system	1583	CYP11A1	ORPHA:168558
HP:0000079	Abnormality of the urinary system	7026	NR2F2	OMIM:618901
HP:0000079	Abnormality of the urinary system	64131	XYLT1	OMIM:264800
HP:0000079	Abnormality of the urinary system	64132	XYLT2	OMIM:264800
HP:0000079	Abnormality of the urinary system	7454	WAS	ORPHA:906
HP:0000079	Abnormality of the urinary system	7456	WIPF1	ORPHA:906
HP:0000079	Abnormality of the urinary system	1629	DBT	OMIM:248600
HP:0000079	Abnormality of the urinary system	593	BCKDHA	OMIM:248600
HP:0000079	Abnormality of the urinary system	594	BCKDHB	OMIM:248600
HP:0000079	Abnormality of the urinary system	3553	IL1B	OMIM:613659
HP:0000079	Abnormality of the urinary system	4595	MUTYH	OMIM:613659
HP:0000079	Abnormality of the urinary system	3557	IL1RN	OMIM:613659
HP:0000079	Abnormality of the urinary system	3659	IRF1	OMIM:613659
HP:0000079	Abnormality of the urinary system	2064	ERBB2	OMIM:613659
HP:0000079	Abnormality of the urinary system	1316	KLF6	OMIM:613659
HP:0000079	Abnormality of the urinary system	3875	KRT18	OMIM:215600
HP:0000079	Abnormality of the urinary system	7086	TKT	ORPHA:488618
HP:0000079	Abnormality of the urinary system	22934	RPIA	OMIM:608611
HP:0000079	Abnormality of the urinary system	2937	GSS	OMIM:266130
HP:0000079	Abnormality of the urinary system	2937	GSS	OMIM:231900
HP:0000079	Abnormality of the urinary system	35	ACADS	ORPHA:26792
HP:0000079	Abnormality of the urinary system	10020	GNE	OMIM:269921
HP:0000079	Abnormality of the urinary system	7915	ALDH5A1	OMIM:271980
HP:0000079	Abnormality of the urinary system	8671	SLC4A4	OMIM:604278
HP:0010291	Prominent palatine ridges	10736	SIX2	ORPHA:488437
HP:0010291	Prominent palatine ridges	23556	PIGN	ORPHA:280633
HP:0010291	Prominent palatine ridges	171023	ASXL1	ORPHA:97297
HP:0010291	Prominent palatine ridges	374654	KIF7	OMIM:200990
HP:0010292	Absent uvula	4920	ROR2	OMIM:268310
HP:0010292	Absent uvula	64359	NXN	OMIM:618529
HP:0010292	Absent uvula	5297	PI4KA	OMIM:616531
HP:0010292	Absent uvula	5297	PI4KA	OMIM:619708
HP:0010293	Aplasia/Hypoplasia of the uvula	4920	ROR2	OMIM:268310
HP:0010293	Aplasia/Hypoplasia of the uvula	64359	NXN	OMIM:618529
HP:0010293	Aplasia/Hypoplasia of the uvula	5297	PI4KA	OMIM:616531
HP:0010293	Aplasia/Hypoplasia of the uvula	5297	PI4KA	OMIM:619708
HP:0010293	Aplasia/Hypoplasia of the uvula	672	BRCA1	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	10459	MAD2L2	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	7516	XRCC2	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	29089	UBE2T	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	675	BRCA2	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	55120	FANCL	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2177	FANCD2	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2175	FANCA	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2187	FANCB	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2176	FANCC	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2178	FANCE	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2188	FANCF	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2189	FANCG	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	5888	RAD51	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	5889	RAD51C	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	55159	RFWD3	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	83990	BRIP1	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	57697	FANCM	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	79728	PALB2	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	84464	SLX4	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	2072	ERCC4	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	55215	FANCI	ORPHA:84
HP:0010293	Aplasia/Hypoplasia of the uvula	57479	PRR12	OMIM:619539
HP:0010293	Aplasia/Hypoplasia of the uvula	57539	WDR35	OMIM:614091
HP:0010293	Aplasia/Hypoplasia of the uvula	6711	SPTBN1	OMIM:619475
HP:0010294	Palate fistula	1748	DLX4	OMIM:616788
HP:0010294	Palate fistula	1748	DLX4	ORPHA:199306
HP:0010294	Palate fistula	4487	MSX1	ORPHA:199306
HP:0010294	Palate fistula	5818	NECTIN1	ORPHA:199306
HP:0010294	Palate fistula	1739	DLG1	ORPHA:199306
HP:0010294	Palate fistula	652	BMP4	ORPHA:199306
HP:0010294	Palate fistula	8626	TP63	ORPHA:199306
HP:0010294	Palate fistula	999	CDH1	ORPHA:199306
HP:0010294	Palate fistula	5156	PDGFRA	ORPHA:199306
HP:0010294	Palate fistula	3664	IRF6	ORPHA:199306
HP:0010294	Palate fistula	9411	ARHGAP29	ORPHA:199306
HP:0010295	Aplasia/Hypoplasia of the tongue	1893	ECM1	ORPHA:530
HP:0010295	Aplasia/Hypoplasia of the tongue	2737	GLI3	ORPHA:672
HP:0010295	Aplasia/Hypoplasia of the tongue	2737	GLI3	OMIM:146510
HP:0010295	Aplasia/Hypoplasia of the tongue	9791	PTDSS1	OMIM:151050
HP:0010295	Aplasia/Hypoplasia of the tongue	5396	PRRX1	ORPHA:990
HP:0010295	Aplasia/Hypoplasia of the tongue	5396	PRRX1	OMIM:202650
HP:0010295	Aplasia/Hypoplasia of the tongue	5015	OTX2	ORPHA:990
HP:0010295	Aplasia/Hypoplasia of the tongue	84823	LMNB2	OMIM:616540
HP:0010295	Aplasia/Hypoplasia of the tongue	4750	NEK1	OMIM:263520
HP:0010295	Aplasia/Hypoplasia of the tongue	5332	PLCB4	OMIM:614669
HP:0010295	Aplasia/Hypoplasia of the tongue	5332	PLCB4	ORPHA:137888
HP:0010295	Aplasia/Hypoplasia of the tongue	6608	SMO	OMIM:241800
HP:0010295	Aplasia/Hypoplasia of the tongue	1717	DHCR7	OMIM:270400
HP:0010295	Aplasia/Hypoplasia of the tongue	1717	DHCR7	ORPHA:818
HP:0010295	Aplasia/Hypoplasia of the tongue	5932	RBBP8	OMIM:606744
HP:0010295	Aplasia/Hypoplasia of the tongue	652	BMP4	OMIM:607932
HP:0010295	Aplasia/Hypoplasia of the tongue	6913	TBX15	OMIM:260660
HP:0010295	Aplasia/Hypoplasia of the tongue	4591	TRIM37	OMIM:253250
HP:0010295	Aplasia/Hypoplasia of the tongue	1906	EDN1	ORPHA:137888
HP:0010295	Aplasia/Hypoplasia of the tongue	2773	GNAI3	ORPHA:137888
HP:0010295	Aplasia/Hypoplasia of the tongue	389827	MYMK	OMIM:254940
HP:0010295	Aplasia/Hypoplasia of the tongue	84314	TMEM107	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	26123	TCTN3	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	79867	TCTN2	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	80776	B9D2	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	79600	TCTN1	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	57096	RPGRIP1	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	79848	CSPP1	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	80184	CEP290	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	51259	TMEM216	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	57545	CC2D2A	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	79583	TMEM231	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	91147	TMEM67	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	79770	TXNDC15	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	27077	B9D1	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	23322	RPGRIP1L	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	54903	MKS1	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	65062	TMEM237	ORPHA:564
HP:0010295	Aplasia/Hypoplasia of the tongue	5980	REV3L	ORPHA:570
HP:0010295	Aplasia/Hypoplasia of the tongue	23129	PLXND1	ORPHA:570
HP:0010295	Aplasia/Hypoplasia of the tongue	157680	VPS13B	ORPHA:193
HP:0010295	Aplasia/Hypoplasia of the tongue	101929726	MYMX	ORPHA:1358
HP:0010296	Ankyloglossia	50945	TBX22	OMIM:303400
HP:0010296	Ankyloglossia	8367	H4C5	OMIM:619950
HP:0010296	Ankyloglossia	340419	RSPO2	OMIM:618021
HP:0010296	Ankyloglossia	5457	POU4F1	OMIM:619352
HP:0010296	Ankyloglossia	3899	AFF3	OMIM:619297
HP:0010296	Ankyloglossia	6711	SPTBN1	OMIM:619475
HP:0010296	Ankyloglossia	57479	PRR12	OMIM:619539
HP:0010296	Ankyloglossia	23394	ADNP	OMIM:615873
HP:0010296	Ankyloglossia	9894	TELO2	ORPHA:488642
HP:0010296	Ankyloglossia	64359	NXN	ORPHA:1507
HP:0010296	Ankyloglossia	4920	ROR2	ORPHA:1507
HP:0010296	Ankyloglossia	8085	KMT2D	OMIM:620186
HP:0010296	Ankyloglossia	4000	LMNA	ORPHA:740
HP:0010296	Ankyloglossia	10269	ZMPSTE24	ORPHA:740
HP:0010296	Ankyloglossia	4312	MMP1	ORPHA:79408
HP:0010296	Ankyloglossia	1294	COL7A1	ORPHA:79408
HP:0010296	Ankyloglossia	1294	COL7A1	ORPHA:89842
HP:0010296	Ankyloglossia	9578	CDC42BPB	OMIM:619841
HP:0010296	Ankyloglossia	613	BCR	ORPHA:261330
HP:0010296	Ankyloglossia	1399	CRKL	ORPHA:261330
HP:0010296	Ankyloglossia	5594	MAPK1	ORPHA:261330
HP:0010296	Ankyloglossia	26040	SETBP1	OMIM:616078
HP:0010296	Ankyloglossia	4281	MID1	ORPHA:2745
HP:0010296	Ankyloglossia	83479	DDX59	OMIM:174300
HP:0010296	Ankyloglossia	8481	OFD1	OMIM:311200
HP:0010296	Ankyloglossia	2542	SLC37A4	OMIM:619525
HP:0010296	Ankyloglossia	63901	FAM111A	OMIM:602361
HP:0010297	Bifid tongue	4920	ROR2	OMIM:268310
HP:0010297	Bifid tongue	4920	ROR2	ORPHA:1507
HP:0010297	Bifid tongue	79659	DYNC2H1	OMIM:613091
HP:0010297	Bifid tongue	79659	DYNC2H1	ORPHA:93271
HP:0010297	Bifid tongue	341640	FREM2	ORPHA:2052
HP:0010297	Bifid tongue	80144	FRAS1	ORPHA:2052
HP:0010297	Bifid tongue	23426	GRIP1	ORPHA:2052
HP:0010297	Bifid tongue	3190	HNRNPK	OMIM:616580
HP:0010297	Bifid tongue	3190	HNRNPK	ORPHA:352665
HP:0010297	Bifid tongue	3190	HNRNPK	ORPHA:453504
HP:0010297	Bifid tongue	153241	CEP120	OMIM:616300
HP:0010297	Bifid tongue	10526	IPO8	OMIM:619472
HP:0010297	Bifid tongue	26005	C2CD3	ORPHA:434179
HP:0010297	Bifid tongue	26005	C2CD3	OMIM:615948
HP:0010297	Bifid tongue	54101	RIPK4	ORPHA:1401
HP:0010297	Bifid tongue	1857	DVL3	ORPHA:3107
HP:0010297	Bifid tongue	1857	DVL3	OMIM:616894
HP:0010297	Bifid tongue	7474	WNT5A	ORPHA:3107
HP:0010297	Bifid tongue	7474	WNT5A	OMIM:180700
HP:0010297	Bifid tongue	1855	DVL1	ORPHA:3107
HP:0010297	Bifid tongue	1855	DVL1	OMIM:180700
HP:0010297	Bifid tongue	2535	FZD2	ORPHA:3107
HP:0010297	Bifid tongue	64359	NXN	ORPHA:1507
HP:0010297	Bifid tongue	4750	NEK1	ORPHA:2751
HP:0010297	Bifid tongue	257	ALX3	ORPHA:391474
HP:0010297	Bifid tongue	55112	DYNC2I1	ORPHA:93271
HP:0010297	Bifid tongue	57560	IFT80	ORPHA:93271
HP:0010297	Bifid tongue	57539	WDR35	ORPHA:93271
HP:0010297	Bifid tongue	89891	DYNC2I2	ORPHA:93271
HP:0010297	Bifid tongue	83479	DDX59	ORPHA:2919
HP:0010297	Bifid tongue	83479	DDX59	OMIM:174300
HP:0010297	Bifid tongue	55784	MCTP2	ORPHA:1596
HP:0010297	Bifid tongue	8481	OFD1	OMIM:311200
HP:0010297	Bifid tongue	1717	DHCR7	ORPHA:818
HP:0010298	Smooth tongue	3977	LIFR	ORPHA:3206
HP:0010298	Smooth tongue	3977	LIFR	OMIM:601559
HP:0010298	Smooth tongue	3852	KRT5	ORPHA:79396
HP:0010298	Smooth tongue	3861	KRT14	ORPHA:79396
HP:0010298	Smooth tongue	80326	WNT10A	OMIM:257980
HP:0010299	Abnormal dentin morphology	1834	DSPP	OMIM:125500
HP:0010299	Abnormal dentin morphology	5251	PHEX	ORPHA:89936
HP:0010299	Abnormal dentin morphology	9321	TRIP11	ORPHA:166272
HP:0010299	Abnormal dentin morphology	9321	TRIP11	OMIM:184260
HP:0010299	Abnormal dentin morphology	126792	B3GALT6	ORPHA:536467
HP:0010299	Abnormal dentin morphology	79879	CCDC134	OMIM:619795
HP:0010299	Abnormal dentin morphology	5034	P4HB	OMIM:112240
HP:0010299	Abnormal dentin morphology	84627	ZNF469	OMIM:229200
HP:0010299	Abnormal dentin morphology	10491	CRTAP	OMIM:610682
HP:0010299	Abnormal dentin morphology	5479	PPIB	OMIM:259440
HP:0010299	Abnormal dentin morphology	1277	COL1A1	OMIM:259420
HP:0010299	Abnormal dentin morphology	1277	COL1A1	OMIM:166220
HP:0010299	Abnormal dentin morphology	1277	COL1A1	OMIM:166200
HP:0010299	Abnormal dentin morphology	1278	COL1A2	OMIM:259420
HP:0010299	Abnormal dentin morphology	1278	COL1A2	OMIM:166220
HP:0010299	Abnormal dentin morphology	6678	SPARC	OMIM:616507
HP:0010299	Abnormal dentin morphology	387733	IFITM5	OMIM:610967
HP:0010299	Abnormal dentin morphology	60681	FKBP10	OMIM:610968
HP:0010299	Abnormal dentin morphology	51360	MBTPS2	OMIM:301014
HP:0010299	Abnormal dentin morphology	9871	SEC24D	OMIM:616294
HP:0010299	Abnormal dentin morphology	375056	MIA3	OMIM:619269
HP:0010299	Abnormal dentin morphology	5176	SERPINF1	OMIM:613982
HP:0010299	Abnormal dentin morphology	649	BMP1	OMIM:614856
HP:0010299	Abnormal dentin morphology	871	SERPINH1	OMIM:613848
HP:0010299	Abnormal dentin morphology	121340	SP7	OMIM:613849
HP:0010299	Abnormal dentin morphology	64175	P3H1	OMIM:610915
HP:0010299	Abnormal dentin morphology	265	AMELX	OMIM:301200
HP:0010299	Abnormal dentin morphology	1009	CDH11	ORPHA:1299
HP:0010299	Abnormal dentin morphology	93650	ACP4	OMIM:617297
HP:0010290	Short hard palate	2736	GLI2	OMIM:610829
HP:0010290	Short hard palate	6628	SNRPB	ORPHA:1393
HP:0010290	Short hard palate	6628	SNRPB	OMIM:117650
HP:0010290	Short hard palate	7474	WNT5A	OMIM:180700
HP:0010290	Short hard palate	1855	DVL1	OMIM:180700
HP:0007236	Recurrent subcortical infarcts	4854	NOTCH3	ORPHA:136
HP:0007236	Recurrent subcortical infarcts	4854	NOTCH3	OMIM:125310
HP:0007236	Recurrent subcortical infarcts	5654	HTRA1	OMIM:616779
HP:0007236	Recurrent subcortical infarcts	4763	NF1	ORPHA:97685
HP:0000080	Abnormality of reproductive system physiology	4204	MECP2	OMIM:300055
HP:0000080	Abnormality of reproductive system physiology	1968	EIF2S3	OMIM:300148
HP:0000080	Abnormality of reproductive system physiology	5424	POLD1	OMIM:615381
HP:0000080	Abnormality of reproductive system physiology	4952	OCRL	ORPHA:534
HP:0000080	Abnormality of reproductive system physiology	6794	STK11	OMIM:273300
HP:0000080	Abnormality of reproductive system physiology	8915	BCL10	OMIM:273300
HP:0000080	Abnormality of reproductive system physiology	3815	KIT	OMIM:273300
HP:0000080	Abnormality of reproductive system physiology	2629	GBA1	ORPHA:2072
HP:0000080	Abnormality of reproductive system physiology	56246	MRAP	ORPHA:361
HP:0000080	Abnormality of reproductive system physiology	6770	STAR	ORPHA:361
HP:0000080	Abnormality of reproductive system physiology	4158	MC2R	ORPHA:361
HP:0000080	Abnormality of reproductive system physiology	23530	NNT	ORPHA:361
HP:0000080	Abnormality of reproductive system physiology	10587	TXNRD2	ORPHA:361
HP:0000080	Abnormality of reproductive system physiology	2260	FGFR1	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	2260	FGFR1	OMIM:147950
HP:0000080	Abnormality of reproductive system physiology	2260	FGFR1	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	81848	SPRY4	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	81848	SPRY4	OMIM:615266
HP:0000080	Abnormality of reproductive system physiology	81848	SPRY4	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	81848	SPRY4	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	128674	PROKR2	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	128674	PROKR2	OMIM:244200
HP:0000080	Abnormality of reproductive system physiology	128674	PROKR2	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	2253	FGF8	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	2253	FGF8	OMIM:612702
HP:0000080	Abnormality of reproductive system physiology	2253	FGF8	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	60675	PROK2	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	60675	PROK2	OMIM:610628
HP:0000080	Abnormality of reproductive system physiology	60675	PROK2	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	55636	CHD7	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	55636	CHD7	OMIM:612370
HP:0000080	Abnormality of reproductive system physiology	55636	CHD7	ORPHA:138
HP:0000080	Abnormality of reproductive system physiology	55636	CHD7	OMIM:214800
HP:0000080	Abnormality of reproductive system physiology	55636	CHD7	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	6870	TACR3	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	6870	TACR3	OMIM:614840
HP:0000080	Abnormality of reproductive system physiology	6870	TACR3	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	1848	DUSP6	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	1848	DUSP6	OMIM:615269
HP:0000080	Abnormality of reproductive system physiology	1848	DUSP6	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	1848	DUSP6	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	26012	NSMF	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	26012	NSMF	OMIM:614838
HP:0000080	Abnormality of reproductive system physiology	55717	WDR11	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	55717	WDR11	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	55717	WDR11	OMIM:614858
HP:0000080	Abnormality of reproductive system physiology	55717	WDR11	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	9394	HS6ST1	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	9394	HS6ST1	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	2796	GNRH1	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	2796	GNRH1	OMIM:614841
HP:0000080	Abnormality of reproductive system physiology	2796	GNRH1	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	2798	GNRHR	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	2798	GNRHR	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	84634	KISS1R	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	84634	KISS1R	OMIM:614837
HP:0000080	Abnormality of reproductive system physiology	6866	TAC3	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	6866	TAC3	OMIM:614839
HP:0000080	Abnormality of reproductive system physiology	8822	FGF17	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	8822	FGF17	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	8822	FGF17	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	3814	KISS1	ORPHA:432
HP:0000080	Abnormality of reproductive system physiology	3814	KISS1	OMIM:614842
HP:0000080	Abnormality of reproductive system physiology	5888	RAD51	ORPHA:238722
HP:0000080	Abnormality of reproductive system physiology	10126	DNAL4	ORPHA:238722
HP:0000080	Abnormality of reproductive system physiology	9423	NTN1	ORPHA:238722
HP:0000080	Abnormality of reproductive system physiology	1630	DCC	ORPHA:238722
HP:0000080	Abnormality of reproductive system physiology	1630	DCC	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	4558	MT-TF	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4572	MT-TQ	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4512	MT-CO1	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4513	MT-CO2	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4514	MT-CO3	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4578	MT-TW	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4540	MT-ND5	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4541	MT-ND6	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4535	MT-ND1	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4538	MT-ND4	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4567	MT-TL1	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4574	MT-TS1	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4575	MT-TS2	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	4564	MT-TH	ORPHA:550
HP:0000080	Abnormality of reproductive system physiology	55703	POLR3B	OMIM:614381
HP:0000080	Abnormality of reproductive system physiology	55703	POLR3B	OMIM:607694
HP:0000080	Abnormality of reproductive system physiology	51728	POLR3K	OMIM:619310
HP:0000080	Abnormality of reproductive system physiology	6938	TCF12	OMIM:619718
HP:0000080	Abnormality of reproductive system physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0000080	Abnormality of reproductive system physiology	148738	HJV	OMIM:602390
HP:0000080	Abnormality of reproductive system physiology	8626	TP63	OMIM:604292
HP:0000080	Abnormality of reproductive system physiology	7681	MKRN3	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	3653	IPW	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	54551	MAGEL2	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	54551	MAGEL2	ORPHA:177904
HP:0000080	Abnormality of reproductive system physiology	54551	MAGEL2	ORPHA:177901
HP:0000080	Abnormality of reproductive system physiology	54551	MAGEL2	ORPHA:177910
HP:0000080	Abnormality of reproductive system physiology	54551	MAGEL2	ORPHA:98754
HP:0000080	Abnormality of reproductive system physiology	791114	PWRN1	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	100033413	SNORD116-1	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	8924	HERC2	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	145624	PWAR1	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	23742	NPAP1	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	338433	SNORD115-1	OMIM:176270
HP:0000080	Abnormality of reproductive system physiology	9150	CTDP1	OMIM:604168
HP:0000080	Abnormality of reproductive system physiology	9150	CTDP1	ORPHA:48431
HP:0000080	Abnormality of reproductive system physiology	2488	FSHB	ORPHA:52901
HP:0000080	Abnormality of reproductive system physiology	4221	MEN1	ORPHA:2965
HP:0000080	Abnormality of reproductive system physiology	64072	CDH23	ORPHA:2965
HP:0000080	Abnormality of reproductive system physiology	64072	CDH23	ORPHA:91347
HP:0000080	Abnormality of reproductive system physiology	9049	AIP	ORPHA:2965
HP:0000080	Abnormality of reproductive system physiology	9049	AIP	ORPHA:963
HP:0000080	Abnormality of reproductive system physiology	6492	SIM1	ORPHA:398079
HP:0000080	Abnormality of reproductive system physiology	1363	CPE	OMIM:619326
HP:0000080	Abnormality of reproductive system physiology	54476	RNF216	OMIM:212840
HP:0000080	Abnormality of reproductive system physiology	54476	RNF216	ORPHA:1173
HP:0000080	Abnormality of reproductive system physiology	25782	RAB3GAP2	OMIM:212720
HP:0000080	Abnormality of reproductive system physiology	25782	RAB3GAP2	ORPHA:1387
HP:0000080	Abnormality of reproductive system physiology	10908	PNPLA6	OMIM:275400
HP:0000080	Abnormality of reproductive system physiology	10908	PNPLA6	ORPHA:1180
HP:0000080	Abnormality of reproductive system physiology	10908	PNPLA6	ORPHA:1173
HP:0000080	Abnormality of reproductive system physiology	10908	PNPLA6	OMIM:215470
HP:0000080	Abnormality of reproductive system physiology	9723	SEMA3E	ORPHA:138
HP:0000080	Abnormality of reproductive system physiology	9723	SEMA3E	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	5428	POLG	ORPHA:298
HP:0000080	Abnormality of reproductive system physiology	1890	TYMP	ORPHA:298
HP:0000080	Abnormality of reproductive system physiology	3980	LIG3	ORPHA:298
HP:0000080	Abnormality of reproductive system physiology	50484	RRM2B	ORPHA:298
HP:0000080	Abnormality of reproductive system physiology	5980	REV3L	ORPHA:570
HP:0000080	Abnormality of reproductive system physiology	23129	PLXND1	ORPHA:570
HP:0000080	Abnormality of reproductive system physiology	6638	SNRPN	ORPHA:177904
HP:0000080	Abnormality of reproductive system physiology	6638	SNRPN	ORPHA:177901
HP:0000080	Abnormality of reproductive system physiology	6638	SNRPN	ORPHA:177910
HP:0000080	Abnormality of reproductive system physiology	6638	SNRPN	ORPHA:177907
HP:0000080	Abnormality of reproductive system physiology	6638	SNRPN	ORPHA:98754
HP:0000080	Abnormality of reproductive system physiology	4692	NDN	ORPHA:177904
HP:0000080	Abnormality of reproductive system physiology	4692	NDN	ORPHA:177901
HP:0000080	Abnormality of reproductive system physiology	4692	NDN	ORPHA:177910
HP:0000080	Abnormality of reproductive system physiology	4692	NDN	ORPHA:98754
HP:0000080	Abnormality of reproductive system physiology	4948	OCA2	ORPHA:177904
HP:0000080	Abnormality of reproductive system physiology	4948	OCA2	ORPHA:177901
HP:0000080	Abnormality of reproductive system physiology	4948	OCA2	ORPHA:98754
HP:0000080	Abnormality of reproductive system physiology	1108	CHD4	OMIM:617159
HP:0000080	Abnormality of reproductive system physiology	55366	LGR4	OMIM:619613
HP:0000080	Abnormality of reproductive system physiology	83550	GPR101	ORPHA:963
HP:0000080	Abnormality of reproductive system physiology	5422	POLA1	OMIM:301030
HP:0000080	Abnormality of reproductive system physiology	23347	SMCHD1	OMIM:603457
HP:0000080	Abnormality of reproductive system physiology	23312	DMXL2	OMIM:616113
HP:0000080	Abnormality of reproductive system physiology	23312	DMXL2	ORPHA:453533
HP:0000080	Abnormality of reproductive system physiology	558	AXL	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	10011	SRA1	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	285025	CCDC141	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	285025	CCDC141	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	389549	FEZF1	OMIM:146110
HP:0000080	Abnormality of reproductive system physiology	389549	FEZF1	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	4990	SIX6	OMIM:206900
HP:0000080	Abnormality of reproductive system physiology	6657	SOX2	OMIM:206900
HP:0000080	Abnormality of reproductive system physiology	3077	HFE	OMIM:235200
HP:0000080	Abnormality of reproductive system physiology	3077	HFE	ORPHA:465508
HP:0000080	Abnormality of reproductive system physiology	650	BMP2	OMIM:235200
HP:0000080	Abnormality of reproductive system physiology	1499	CTNNB1	ORPHA:54595
HP:0000080	Abnormality of reproductive system physiology	673	BRAF	ORPHA:54595
HP:0000080	Abnormality of reproductive system physiology	3293	HSD17B3	ORPHA:752
HP:0000080	Abnormality of reproductive system physiology	55131	RBM28	ORPHA:157954
HP:0000080	Abnormality of reproductive system physiology	55131	RBM28	OMIM:612079
HP:0000080	Abnormality of reproductive system physiology	5626	PROP1	ORPHA:226307
HP:0000080	Abnormality of reproductive system physiology	5626	PROP1	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	5626	PROP1	ORPHA:90695
HP:0000080	Abnormality of reproductive system physiology	89884	LHX4	ORPHA:226307
HP:0000080	Abnormality of reproductive system physiology	89884	LHX4	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	8022	LHX3	ORPHA:226307
HP:0000080	Abnormality of reproductive system physiology	5449	POU1F1	ORPHA:226307
HP:0000080	Abnormality of reproductive system physiology	5449	POU1F1	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	8820	HESX1	ORPHA:226307
HP:0000080	Abnormality of reproductive system physiology	8820	HESX1	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	8820	HESX1	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	6804	STX1A	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	7461	CLIP2	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	84277	DNAJC30	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	8468	FKBP6	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	5982	RFC2	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	2969	GTF2I	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	3984	LIMK1	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	9569	GTF2IRD1	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	155382	VPS37D	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	155368	METTL27	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	114049	BUD23	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	7458	EIF4H	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	84163	GTF2IRD2	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	9275	BCL7B	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	26608	TBL2	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	653361	NCF1	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	135886	TMEM270	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	51085	MLXIPL	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	9031	BAZ1B	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	2006	ELN	ORPHA:904
HP:0000080	Abnormality of reproductive system physiology	8314	BAP1	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	4771	NF2	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	6598	SMARCB1	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	5155	PDGFB	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	84231	TRAF7	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	6608	SMO	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	207	AKT1	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	5290	PIK3CA	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	7015	TERT	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	51684	SUFU	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	51684	SUFU	ORPHA:377
HP:0000080	Abnormality of reproductive system physiology	6605	SMARCE1	ORPHA:2495
HP:0000080	Abnormality of reproductive system physiology	286	ANK1	ORPHA:251066
HP:0000080	Abnormality of reproductive system physiology	7036	TFR2	OMIM:604250
HP:0000080	Abnormality of reproductive system physiology	11128	POLR3A	ORPHA:447896
HP:0000080	Abnormality of reproductive system physiology	11128	POLR3A	ORPHA:3455
HP:0000080	Abnormality of reproductive system physiology	11128	POLR3A	OMIM:607694
HP:0000080	Abnormality of reproductive system physiology	2736	GLI2	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	3170	FOXA2	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	5015	OTX2	ORPHA:95494
HP:0000080	Abnormality of reproductive system physiology	190	NR0B1	OMIM:300200
HP:0000080	Abnormality of reproductive system physiology	190	NR0B1	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	3972	LHB	OMIM:228300
HP:0000080	Abnormality of reproductive system physiology	59336	PRDM13	OMIM:619761
HP:0000080	Abnormality of reproductive system physiology	81887	LAS1L	ORPHA:3459
HP:0000080	Abnormality of reproductive system physiology	55869	HDAC8	ORPHA:3459
HP:0000080	Abnormality of reproductive system physiology	5373	PMM2	ORPHA:79318
HP:0000080	Abnormality of reproductive system physiology	5727	PTCH1	ORPHA:377
HP:0000080	Abnormality of reproductive system physiology	8643	PTCH2	ORPHA:377
HP:0000080	Abnormality of reproductive system physiology	2706	GJB2	ORPHA:494
HP:0000080	Abnormality of reproductive system physiology	5122	PCSK1	OMIM:600955
HP:0000080	Abnormality of reproductive system physiology	22930	RAB3GAP1	ORPHA:1387
HP:0000080	Abnormality of reproductive system physiology	22930	RAB3GAP1	OMIM:619420
HP:0000080	Abnormality of reproductive system physiology	654	BMP6	ORPHA:465508
HP:0000080	Abnormality of reproductive system physiology	22800	RRAS2	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	867	CBL	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	8216	LZTR1	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	6016	RIT1	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	6237	RRAS	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	5894	RAF1	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	22808	MRAS	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	3845	KRAS	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	200734	SPRED2	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	4893	NRAS	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	6654	SOS1	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	6655	SOS2	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	5781	PTPN11	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	5922	RASA2	ORPHA:648
HP:0000080	Abnormality of reproductive system physiology	3730	ANOS1	OMIM:308700
HP:0000080	Abnormality of reproductive system physiology	3730	ANOS1	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	1761	DMRT1	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	6662	SOX9	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	84733	CBX2	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	50846	DHH	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	4214	MAP3K1	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	2516	NR5A1	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	7490	WT1	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	57647	DHX37	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	6736	SRY	ORPHA:242
HP:0000080	Abnormality of reproductive system physiology	80067	DCAF17	OMIM:241080
HP:0000080	Abnormality of reproductive system physiology	10371	SEMA3A	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	23767	FLRT3	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	79625	NDNF	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	54756	IL17RD	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	6663	SOX10	ORPHA:478
HP:0000080	Abnormality of reproductive system physiology	6658	SOX3	ORPHA:90695
HP:0000080	Abnormality of reproductive system physiology	84133	ZNRF3	ORPHA:1501
HP:0000080	Abnormality of reproductive system physiology	7157	TP53	ORPHA:1501
HP:0000080	Abnormality of reproductive system physiology	5573	PRKAR1A	ORPHA:1501
HP:0000080	Abnormality of reproductive system physiology	1029	CDKN2A	ORPHA:1501
HP:0000080	Abnormality of reproductive system physiology	3690	ITGB3	OMIM:619271
HP:0000080	Abnormality of reproductive system physiology	3690	ITGB3	ORPHA:849
HP:0000080	Abnormality of reproductive system physiology	3690	ITGB3	OMIM:619267
HP:0000080	Abnormality of reproductive system physiology	3674	ITGA2B	OMIM:273800
HP:0000080	Abnormality of reproductive system physiology	3674	ITGA2B	ORPHA:849
HP:0000080	Abnormality of reproductive system physiology	2157	F8	ORPHA:177926
HP:0000080	Abnormality of reproductive system physiology	2157	F8	ORPHA:169802
HP:0000080	Abnormality of reproductive system physiology	2811	GP1BA	OMIM:153670
HP:0000080	Abnormality of reproductive system physiology	2811	GP1BA	ORPHA:274
HP:0000080	Abnormality of reproductive system physiology	2811	GP1BA	OMIM:231200
HP:0000080	Abnormality of reproductive system physiology	2812	GP1BB	ORPHA:274
HP:0000080	Abnormality of reproductive system physiology	2812	GP1BB	OMIM:231200
HP:0000080	Abnormality of reproductive system physiology	2815	GP9	ORPHA:274
HP:0000080	Abnormality of reproductive system physiology	2815	GP9	OMIM:231200
HP:0000080	Abnormality of reproductive system physiology	7450	VWF	OMIM:193400
HP:0000080	Abnormality of reproductive system physiology	7450	VWF	OMIM:613554
HP:0000080	Abnormality of reproductive system physiology	7450	VWF	OMIM:277480
HP:0000080	Abnormality of reproductive system physiology	2155	F7	OMIM:227500
HP:0000080	Abnormality of reproductive system physiology	2155	F7	ORPHA:327
HP:0000080	Abnormality of reproductive system physiology	5054	SERPINE1	ORPHA:465
HP:0000080	Abnormality of reproductive system physiology	5054	SERPINE1	OMIM:613329
HP:0000080	Abnormality of reproductive system physiology	89781	HPS4	OMIM:614073
HP:0000080	Abnormality of reproductive system physiology	388552	BLOC1S3	OMIM:614077
HP:0000080	Abnormality of reproductive system physiology	3998	LMAN1	ORPHA:35909
HP:0000080	Abnormality of reproductive system physiology	90411	MCFD2	ORPHA:35909
HP:0000080	Abnormality of reproductive system physiology	90411	MCFD2	OMIM:613625
HP:0000080	Abnormality of reproductive system physiology	84062	DTNBP1	OMIM:614076
HP:0000080	Abnormality of reproductive system physiology	5568	PRKACG	OMIM:616176
HP:0000080	Abnormality of reproductive system physiology	10235	RASGRP2	OMIM:615888
HP:0000080	Abnormality of reproductive system physiology	2542	SLC37A4	ORPHA:79259
HP:0000080	Abnormality of reproductive system physiology	23218	NBEAL2	OMIM:139090
HP:0000080	Abnormality of reproductive system physiology	2165	F13B	ORPHA:331
HP:0000080	Abnormality of reproductive system physiology	2162	F13A1	ORPHA:331
HP:0000080	Abnormality of reproductive system physiology	63915	BLOC1S5	OMIM:619172
HP:0000080	Abnormality of reproductive system physiology	2159	F10	OMIM:227600
HP:0000080	Abnormality of reproductive system physiology	2159	F10	ORPHA:328
HP:0000080	Abnormality of reproductive system physiology	51206	GP6	OMIM:614201
HP:0000080	Abnormality of reproductive system physiology	2147	F2	OMIM:613679
HP:0000080	Abnormality of reproductive system physiology	2147	F2	ORPHA:325
HP:0000080	Abnormality of reproductive system physiology	2160	F11	ORPHA:329
HP:0000080	Abnormality of reproductive system physiology	4627	MYH9	OMIM:155100
HP:0000080	Abnormality of reproductive system physiology	4627	MYH9	ORPHA:182050
HP:0000080	Abnormality of reproductive system physiology	5328	PLAU	OMIM:601709
HP:0000080	Abnormality of reproductive system physiology	342618	SLFN14	OMIM:616913
HP:0000080	Abnormality of reproductive system physiology	1729	DIAPH1	OMIM:124900
HP:0000080	Abnormality of reproductive system physiology	10269	ZMPSTE24	ORPHA:740
HP:0000080	Abnormality of reproductive system physiology	472	ATM	OMIM:208900
HP:0000080	Abnormality of reproductive system physiology	652	BMP4	OMIM:607932
HP:0000080	Abnormality of reproductive system physiology	3479	IGF1	ORPHA:73272
HP:0000080	Abnormality of reproductive system physiology	27183	VPS4A	OMIM:619273
HP:0000080	Abnormality of reproductive system physiology	8450	CUL4B	OMIM:300354
HP:0000080	Abnormality of reproductive system physiology	8450	CUL4B	ORPHA:85293
HP:0000080	Abnormality of reproductive system physiology	92840	REEP6	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6094	ROM1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6017	RLBP1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	7401	CLRN1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	24	ABCA4	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	130557	ZNF513	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	582	BBS1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	582	BBS1	OMIM:209900
HP:0000080	Abnormality of reproductive system physiology	582	BBS1	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	92211	CDHR1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6121	RPE65	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	54806	AHI1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6101	RP1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	3419	IDH3A	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	4751	NEK2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	346007	EYS	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	8100	IFT88	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	23020	SNRNP200	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	762	CA4	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	138050	HGSNAT	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	196	AHR	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	3614	IMPDH1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	123016	TTC8	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	123016	TTC8	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	123016	TTC8	OMIM:615985
HP:0000080	Abnormality of reproductive system physiology	1406	CRX	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5148	PDE6G	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	26160	IFT172	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	26160	IFT172	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	26121	PRPF31	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	583	BBS2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	583	BBS2	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	583	BBS2	OMIM:615981
HP:0000080	Abnormality of reproductive system physiology	4117	MAK	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	25794	FSCN2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	375298	CERKL	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	3420	IDH3B	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	57670	KIAA1549	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	7275	TUB	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	24148	PRPF6	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	23418	CRB1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	10461	MERTK	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	57709	SLC7A14	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	768206	PRCD	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	7399	USH2A	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	23370	ARHGEF18	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5949	RBP3	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6010	RHO	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6100	RP9	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	10002	NR2E3	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	9227	LRAT	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	84140	FAM161A	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	55812	SPATA7	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	55624	POMGNT1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	79797	ZNF408	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	403	ARL3	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5145	PDE6A	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	10210	TOPORS	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	8842	PROM1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	9128	PRPF4	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	145226	RDH12	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	50939	IMPG2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	49855	SCAPER	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	49855	SCAPER	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	2979	GUCA1B	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	1259	CNGA1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	1258	CNGB1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	60509	AGBL5	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5961	PRPH2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	388939	PCARE	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	7439	BEST1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	9785	DHX38	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	7287	TULP1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5995	RGR	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	9129	PRPF3	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	55975	KLHL7	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	3617	IMPG1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	94137	RP1L1	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	5158	PDE6B	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	6102	RP2	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	55857	KIZ	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	64218	SEMA4A	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	4901	NRL	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	157657	CFAP418	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	157657	CFAP418	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	10594	PRPF8	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	84100	ARL6	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	84100	ARL6	OMIM:209900
HP:0000080	Abnormality of reproductive system physiology	84100	ARL6	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	6295	SAG	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	79947	DHDDS	ORPHA:791
HP:0000080	Abnormality of reproductive system physiology	83932	SPRTN	OMIM:616200
HP:0000080	Abnormality of reproductive system physiology	11020	IFT27	OMIM:615996
HP:0000080	Abnormality of reproductive system physiology	11020	IFT27	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	55240	STEAP3	OMIM:615234
HP:0000080	Abnormality of reproductive system physiology	55240	STEAP3	ORPHA:300298
HP:0000080	Abnormality of reproductive system physiology	54585	LZTFL1	OMIM:615994
HP:0000080	Abnormality of reproductive system physiology	54585	LZTFL1	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	9401	RECQL4	OMIM:268400
HP:0000080	Abnormality of reproductive system physiology	9342	SNAP29	ORPHA:66631
HP:0000080	Abnormality of reproductive system physiology	5818	NECTIN1	ORPHA:3253
HP:0000080	Abnormality of reproductive system physiology	1760	DMPK	OMIM:160900
HP:0000080	Abnormality of reproductive system physiology	4976	OPA1	ORPHA:98673
HP:0000080	Abnormality of reproductive system physiology	2068	ERCC2	ORPHA:1466
HP:0000080	Abnormality of reproductive system physiology	2068	ERCC2	OMIM:601675
HP:0000080	Abnormality of reproductive system physiology	2068	ERCC2	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	2067	ERCC1	ORPHA:1466
HP:0000080	Abnormality of reproductive system physiology	2073	ERCC5	ORPHA:1466
HP:0000080	Abnormality of reproductive system physiology	2073	ERCC5	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	412	STS	ORPHA:281090
HP:0000080	Abnormality of reproductive system physiology	79140	CCDC28B	OMIM:209900
HP:0000080	Abnormality of reproductive system physiology	672	BRCA1	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	10459	MAD2L2	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	29089	UBE2T	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	675	BRCA2	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	55120	FANCL	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	2188	FANCF	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	2189	FANCG	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	5889	RAD51C	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	55159	RFWD3	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	83990	BRIP1	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	79728	PALB2	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	84464	SLX4	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	55215	FANCI	ORPHA:84
HP:0000080	Abnormality of reproductive system physiology	55630	SLC39A4	OMIM:201100
HP:0000080	Abnormality of reproductive system physiology	617	BCS1L	OMIM:262000
HP:0000080	Abnormality of reproductive system physiology	617	BCS1L	ORPHA:123
HP:0000080	Abnormality of reproductive system physiology	2071	ERCC3	OMIM:610651
HP:0000080	Abnormality of reproductive system physiology	2071	ERCC3	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	26227	PHGDH	ORPHA:79351
HP:0000080	Abnormality of reproductive system physiology	51763	INPP5K	ORPHA:559
HP:0000080	Abnormality of reproductive system physiology	92482	BBIP1	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	51057	WDPCP	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	22954	TRIM32	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	22954	TRIM32	OMIM:615988
HP:0000080	Abnormality of reproductive system physiology	54903	MKS1	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	79738	BBS10	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	79738	BBS10	OMIM:615987
HP:0000080	Abnormality of reproductive system physiology	585	BBS4	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	585	BBS4	OMIM:615982
HP:0000080	Abnormality of reproductive system physiology	8195	MKKS	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	55212	BBS7	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	55212	BBS7	OMIM:615984
HP:0000080	Abnormality of reproductive system physiology	166379	BBS12	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	166379	BBS12	OMIM:615989
HP:0000080	Abnormality of reproductive system physiology	129880	BBS5	ORPHA:110
HP:0000080	Abnormality of reproductive system physiology	129880	BBS5	OMIM:615983
HP:0000080	Abnormality of reproductive system physiology	7874	USP7	ORPHA:500055
HP:0000080	Abnormality of reproductive system physiology	8879	SGPL1	OMIM:617575
HP:0000080	Abnormality of reproductive system physiology	9791	PTDSS1	ORPHA:2658
HP:0000080	Abnormality of reproductive system physiology	5189	PEX1	ORPHA:3220
HP:0000080	Abnormality of reproductive system physiology	5190	PEX6	ORPHA:3220
HP:0000080	Abnormality of reproductive system physiology	5590	PRKCZ	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	2563	GABRD	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	23013	SPEN	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	8510	MMP23B	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	7798	LUZP1	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	6497	SKI	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	10630	PDPN	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	3339	HSPG2	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	10277	UBE4B	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	8514	KCNAB2	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	473	RERE	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	63976	PRDM16	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	54897	CASZ1	ORPHA:1606
HP:0000080	Abnormality of reproductive system physiology	7466	WFS1	ORPHA:3463
HP:0000080	Abnormality of reproductive system physiology	51124	IER3IP1	OMIM:614231
HP:0000080	Abnormality of reproductive system physiology	5426	POLE	ORPHA:85173
HP:0000080	Abnormality of reproductive system physiology	5495	PPM1B	ORPHA:163693
HP:0000080	Abnormality of reproductive system physiology	6519	SLC3A1	ORPHA:163693
HP:0000080	Abnormality of reproductive system physiology	9581	PREPL	ORPHA:163693
HP:0000080	Abnormality of reproductive system physiology	79823	CAMKMT	ORPHA:163693
HP:0000080	Abnormality of reproductive system physiology	415	ARSL	OMIM:302950
HP:0000080	Abnormality of reproductive system physiology	4193	MDM2	OMIM:618681
HP:0000080	Abnormality of reproductive system physiology	4621	MYH3	ORPHA:2990
HP:0000080	Abnormality of reproductive system physiology	1146	CHRNG	ORPHA:2990
HP:0000080	Abnormality of reproductive system physiology	84295	PHF6	ORPHA:127
HP:0000080	Abnormality of reproductive system physiology	60529	ALX4	ORPHA:228390
HP:0000080	Abnormality of reproductive system physiology	56052	ALG1	OMIM:608540
HP:0000080	Abnormality of reproductive system physiology	4089	SMAD4	ORPHA:2588
HP:0000080	Abnormality of reproductive system physiology	7507	XPA	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	7508	XPC	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	1643	DDB2	ORPHA:910
HP:0000080	Abnormality of reproductive system physiology	540	ATP7B	ORPHA:905
HP:0000080	Abnormality of reproductive system physiology	54766	BTG4	OMIM:619009
HP:0000080	Abnormality of reproductive system physiology	55109	AGGF1	ORPHA:90308
HP:0000080	Abnormality of reproductive system physiology	7454	WAS	ORPHA:906
HP:0000080	Abnormality of reproductive system physiology	7456	WIPF1	ORPHA:906
HP:0000080	Abnormality of reproductive system physiology	7476	WNT7A	OMIM:228930
HP:0000080	Abnormality of reproductive system physiology	23438	HARS2	OMIM:614926
HP:0000080	Abnormality of reproductive system physiology	3981	LIG4	OMIM:606593
HP:0000080	Abnormality of reproductive system physiology	55315	SLC29A3	ORPHA:168569
HP:0000080	Abnormality of reproductive system physiology	2245	FGD1	OMIM:305400
HP:0000080	Abnormality of reproductive system physiology	1583	CYP11A1	ORPHA:168558
HP:0000080	Abnormality of reproductive system physiology	1583	CYP11A1	ORPHA:289548
HP:0000080	Abnormality of reproductive system physiology	9820	CUL7	ORPHA:2616
HP:0000080	Abnormality of reproductive system physiology	23363	OBSL1	ORPHA:2616
HP:0000080	Abnormality of reproductive system physiology	83987	CCDC8	ORPHA:2616
HP:0000080	Abnormality of reproductive system physiology	1131	CHRM3	ORPHA:2970
HP:0000080	Abnormality of reproductive system physiology	7486	WRN	ORPHA:902
HP:0000080	Abnormality of reproductive system physiology	64324	NSD1	ORPHA:821
HP:0000080	Abnormality of reproductive system physiology	29072	SETD2	ORPHA:821
HP:0000080	Abnormality of reproductive system physiology	10297	APC2	ORPHA:821
HP:0000080	Abnormality of reproductive system physiology	136647	MPLKIP	OMIM:234050
HP:0000080	Abnormality of reproductive system physiology	10568	SLC34A2	ORPHA:60025
HP:0000080	Abnormality of reproductive system physiology	93233	ODAD1	OMIM:615067
HP:0000080	Abnormality of reproductive system physiology	6716	SRD5A2	ORPHA:753
HP:0000080	Abnormality of reproductive system physiology	6926	TBX3	ORPHA:3138
HP:0000080	Abnormality of reproductive system physiology	2100	ESR2	OMIM:618187
HP:0000080	Abnormality of reproductive system physiology	2099	ESR1	ORPHA:785
HP:0000080	Abnormality of reproductive system physiology	2099	ESR1	OMIM:615363
HP:0000080	Abnormality of reproductive system physiology	254394	MCM9	OMIM:616185
HP:0000080	Abnormality of reproductive system physiology	55154	MSTO1	OMIM:617675
HP:0000080	Abnormality of reproductive system physiology	55154	MSTO1	ORPHA:502423
HP:0000080	Abnormality of reproductive system physiology	54361	WNT4	OMIM:158330
HP:0000080	Abnormality of reproductive system physiology	54361	WNT4	ORPHA:247768
HP:0000080	Abnormality of reproductive system physiology	2661	GDF9	OMIM:618014
HP:0000080	Abnormality of reproductive system physiology	51199	NIN	OMIM:614851
HP:0000080	Abnormality of reproductive system physiology	51199	NIN	ORPHA:319675
HP:0000080	Abnormality of reproductive system physiology	23476	BRD4	ORPHA:199
HP:0000080	Abnormality of reproductive system physiology	9126	SMC3	ORPHA:199
HP:0000080	Abnormality of reproductive system physiology	8243	SMC1A	ORPHA:199
HP:0000080	Abnormality of reproductive system physiology	25836	NIPBL	ORPHA:199
HP:0000080	Abnormality of reproductive system physiology	5885	RAD21	ORPHA:199
HP:0000080	Abnormality of reproductive system physiology	6091	ROBO1	ORPHA:95496
HP:0000080	Abnormality of reproductive system physiology	50937	CDON	ORPHA:95496
HP:0000080	Abnormality of reproductive system physiology	23432	GPR161	ORPHA:95496
HP:0000080	Abnormality of reproductive system physiology	2625	GATA3	OMIM:146255
HP:0000080	Abnormality of reproductive system physiology	3295	HSD17B4	OMIM:233400
HP:0000080	Abnormality of reproductive system physiology	8565	YARS1	OMIM:619418
HP:0000080	Abnormality of reproductive system physiology	8516	ITGA8	OMIM:191830
HP:0000080	Abnormality of reproductive system physiology	93587	TRMT10A	OMIM:616033
HP:0000080	Abnormality of reproductive system physiology	353238	PADI6	OMIM:617234
HP:0000080	Abnormality of reproductive system physiology	3117	HLA-DQA1	OMIM:212750
HP:0000080	Abnormality of reproductive system physiology	3119	HLA-DQB1	OMIM:212750
HP:0000080	Abnormality of reproductive system physiology	91057	CCDC34	OMIM:620084
HP:0000080	Abnormality of reproductive system physiology	10149	ADGRG2	ORPHA:48
HP:0000080	Abnormality of reproductive system physiology	1080	CFTR	ORPHA:48
HP:0000080	Abnormality of reproductive system physiology	7840	ALMS1	ORPHA:64
HP:0000080	Abnormality of reproductive system physiology	286151	FBXO43	OMIM:619696
HP:0000080	Abnormality of reproductive system physiology	255101	CFAP65	OMIM:618664
HP:0000080	Abnormality of reproductive system physiology	8632	DNAH17	OMIM:618643
HP:0000080	Abnormality of reproductive system physiology	140732	SUN5	ORPHA:529970
HP:0000080	Abnormality of reproductive system physiology	83449	PMFBP1	ORPHA:529970
HP:0000080	Abnormality of reproductive system physiology	89876	CFAP91	OMIM:619177
HP:0000080	Abnormality of reproductive system physiology	124404	SEPTIN12	OMIM:614822
HP:0000080	Abnormality of reproductive system physiology	144132	DNHD1	OMIM:619712
HP:0000080	Abnormality of reproductive system physiology	196385	DNAH10	OMIM:619515
HP:0000080	Abnormality of reproductive system physiology	3973	LHCGR	ORPHA:3000
HP:0000080	Abnormality of reproductive system physiology	92749	DRC1	OMIM:620222
HP:0000080	Abnormality of reproductive system physiology	4438	MSH4	OMIM:108420
HP:0000080	Abnormality of reproductive system physiology	7258	TSPY1	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	57055	DAZ2	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	57135	DAZ4	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	8287	USP9Y	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	5940	RBMY1A1	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	57054	DAZ3	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	8653	DDX3Y	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	1617	DAZ1	ORPHA:1646
HP:0000080	Abnormality of reproductive system physiology	5447	POR	ORPHA:95699
HP:0000080	Abnormality of reproductive system physiology	286464	CFAP47	OMIM:301059
HP:0000080	Abnormality of reproductive system physiology	317719	KLHL10	OMIM:615081
HP:0000080	Abnormality of reproductive system physiology	7555	CNBP	OMIM:602668
HP:0000080	Abnormality of reproductive system physiology	22873	DZIP1	OMIM:619102
HP:0000080	Abnormality of reproductive system physiology	84071	ARMC2	OMIM:618433
HP:0000080	Abnormality of reproductive system physiology	118491	CFAP70	OMIM:618670
HP:0000080	Abnormality of reproductive system physiology	80173	IFT74	OMIM:619585
HP:0000080	Abnormality of reproductive system physiology	5161	PDHA2	OMIM:619828
HP:0000080	Abnormality of reproductive system physiology	140801	RPL10L	OMIM:619689
HP:0000080	Abnormality of reproductive system physiology	84984	CEP19	OMIM:615703
HP:0000080	Abnormality of reproductive system physiology	117155	CATSPER2	OMIM:612997
HP:0000080	Abnormality of reproductive system physiology	161497	STRC	OMIM:612997
HP:0000080	Abnormality of reproductive system physiology	117144	CATSPER1	OMIM:612997
HP:0000080	Abnormality of reproductive system physiology	130951	M1AP	OMIM:619108
HP:0000080	Abnormality of reproductive system physiology	25886	POC1A	OMIM:614813
HP:0000080	Abnormality of reproductive system physiology	50940	PDE11A	ORPHA:1359
HP:0000080	Abnormality of reproductive system physiology	157855	KCNU1	OMIM:620196
HP:0000080	Abnormality of reproductive system physiology	1027	CDKN1B	ORPHA:652
HP:0000080	Abnormality of reproductive system physiology	1026	CDKN1A	ORPHA:652
HP:0000080	Abnormality of reproductive system physiology	1030	CDKN2B	ORPHA:652
HP:0000080	Abnormality of reproductive system physiology	1031	CDKN2C	ORPHA:652
HP:0000080	Abnormality of reproductive system physiology	8913	CACNA1G	ORPHA:458803
HP:0000080	Abnormality of reproductive system physiology	2982	GUCY1A1	OMIM:615750
HP:0000080	Abnormality of reproductive system physiology	7276	TTR	OMIM:105210
HP:0000080	Abnormality of reproductive system physiology	7276	TTR	ORPHA:85447
HP:0000080	Abnormality of reproductive system physiology	5277	PIGA	ORPHA:447
HP:0000080	Abnormality of reproductive system physiology	724066	ATXN8	ORPHA:98760
HP:0000080	Abnormality of reproductive system physiology	6315	ATXN8OS	ORPHA:98760
HP:0000080	Abnormality of reproductive system physiology	26278	SACS	ORPHA:98
HP:0000080	Abnormality of reproductive system physiology	3074	HEXB	OMIM:268800
HP:0000080	Abnormality of reproductive system physiology	57817	HAMP	ORPHA:79230
HP:0000080	Abnormality of reproductive system physiology	30061	SLC40A1	OMIM:606069
HP:0000080	Abnormality of reproductive system physiology	64374	SIL1	OMIM:248800
HP:0000080	Abnormality of reproductive system physiology	54809	SAMD9	OMIM:617053
HP:0000080	Abnormality of reproductive system physiology	2187	FANCB	OMIM:300514
HP:0000080	Abnormality of reproductive system physiology	4361	MRE11	ORPHA:251347
HP:0000080	Abnormality of reproductive system physiology	23600	AMACR	OMIM:614307
HP:0000080	Abnormality of reproductive system physiology	4047	LSS	ORPHA:2850
HP:0000080	Abnormality of reproductive system physiology	197	AHSG	ORPHA:2850
HP:0000080	Abnormality of reproductive system physiology	3694	ITGB6	ORPHA:2850
HP:0000080	Abnormality of reproductive system physiology	92667	MGME1	ORPHA:352447
HP:0000080	Abnormality of reproductive system physiology	92667	MGME1	OMIM:615084
HP:0000080	Abnormality of reproductive system physiology	26137	ZBTB20	OMIM:259050
HP:0000080	Abnormality of reproductive system physiology	9533	POLR1C	ORPHA:88637
HP:0000080	Abnormality of reproductive system physiology	8878	SQSTM1	OMIM:617145
HP:0000080	Abnormality of reproductive system physiology	3952	LEP	ORPHA:66628
HP:0000080	Abnormality of reproductive system physiology	2177	FANCD2	OMIM:227646
HP:0000080	Abnormality of reproductive system physiology	2176	FANCC	OMIM:227645
HP:0000080	Abnormality of reproductive system physiology	51081	MRPS7	OMIM:617872
HP:0000080	Abnormality of reproductive system physiology	9692	PRORP	OMIM:619737
HP:0000080	Abnormality of reproductive system physiology	8192	CLPP	OMIM:614129
HP:0000080	Abnormality of reproductive system physiology	3953	LEPR	OMIM:614963
HP:0000080	Abnormality of reproductive system physiology	3953	LEPR	ORPHA:179494
HP:0000080	Abnormality of reproductive system physiology	79184	BRCC3	ORPHA:280679
HP:0000080	Abnormality of reproductive system physiology	658	BMPR1B	OMIM:609441
HP:0000080	Abnormality of reproductive system physiology	2178	FANCE	OMIM:600901
HP:0000080	Abnormality of reproductive system physiology	6342	SCP2	OMIM:613724
HP:0000080	Abnormality of reproductive system physiology	50964	SOST	OMIM:269500
HP:0000080	Abnormality of reproductive system physiology	5144	PDE4D	ORPHA:950
HP:0000080	Abnormality of reproductive system physiology	2261	FGFR3	OMIM:616482
HP:0000080	Abnormality of reproductive system physiology	27241	BBS9	OMIM:615986
HP:0000080	Abnormality of reproductive system physiology	5696	PSMB8	OMIM:256040
HP:0000080	Abnormality of reproductive system physiology	1161	ERCC8	OMIM:216400
HP:0000080	Abnormality of reproductive system physiology	1584	CYP11B1	ORPHA:90795
HP:0000080	Abnormality of reproductive system physiology	9060	PAPSS2	OMIM:612847
HP:0000080	Abnormality of reproductive system physiology	6907	TBL1X	OMIM:301033
HP:0000080	Abnormality of reproductive system physiology	5718	PSMD12	ORPHA:529962
HP:0000080	Abnormality of reproductive system physiology	2186	BPTF	ORPHA:529962
HP:0000080	Abnormality of reproductive system physiology	7086	TKT	ORPHA:488618
HP:0000080	Abnormality of reproductive system physiology	9563	H6PD	OMIM:604931
HP:0000080	Abnormality of reproductive system physiology	84196	USP48	ORPHA:96253
HP:0000080	Abnormality of reproductive system physiology	9101	USP8	ORPHA:96253
HP:0000080	Abnormality of reproductive system physiology	9101	USP8	OMIM:219090
HP:0000080	Abnormality of reproductive system physiology	2908	NR3C1	ORPHA:96253
HP:0000080	Abnormality of reproductive system physiology	2908	NR3C1	ORPHA:786
HP:0000080	Abnormality of reproductive system physiology	546	ATRX	ORPHA:96253
HP:0000080	Abnormality of reproductive system physiology	5618	PRLR	ORPHA:397685
HP:0000080	Abnormality of reproductive system physiology	5618	PRLR	OMIM:615555
HP:0000080	Abnormality of reproductive system physiology	10273	STUB1	ORPHA:412057
HP:0000080	Abnormality of reproductive system physiology	3991	LIPE	ORPHA:435660
HP:0000080	Abnormality of reproductive system physiology	2074	ERCC6	OMIM:616946
HP:0000080	Abnormality of reproductive system physiology	5468	PPARG	ORPHA:79083
HP:0000080	Abnormality of reproductive system physiology	5468	PPARG	ORPHA:528
HP:0000080	Abnormality of reproductive system physiology	5468	PPARG	OMIM:604367
HP:0000080	Abnormality of reproductive system physiology	208	AKT2	ORPHA:79085
HP:0000080	Abnormality of reproductive system physiology	5346	PLIN1	OMIM:613877
HP:0000080	Abnormality of reproductive system physiology	5346	PLIN1	ORPHA:280356
HP:0000080	Abnormality of reproductive system physiology	5257	PHKB	ORPHA:79240
HP:0000080	Abnormality of reproductive system physiology	10555	AGPAT2	ORPHA:528
HP:0000080	Abnormality of reproductive system physiology	284119	CAVIN1	ORPHA:528
HP:0000080	Abnormality of reproductive system physiology	26580	BSCL2	ORPHA:528
HP:0000080	Abnormality of reproductive system physiology	2353	FOS	ORPHA:528
HP:0000080	Abnormality of reproductive system physiology	2778	GNAS	ORPHA:79443
HP:0000080	Abnormality of reproductive system physiology	2778	GNAS	ORPHA:79444
HP:0000080	Abnormality of reproductive system physiology	57697	FANCM	OMIM:618096
HP:0000080	Abnormality of reproductive system physiology	493856	CISD2	OMIM:604928
HP:0000080	Abnormality of reproductive system physiology	4439	MSH5	OMIM:617442
HP:0000080	Abnormality of reproductive system physiology	5256	PHKA2	ORPHA:264580
HP:0000080	Abnormality of reproductive system physiology	5261	PHKG2	ORPHA:264580
HP:0000080	Abnormality of reproductive system physiology	63924	CIDEC	ORPHA:435651
HP:0000080	Abnormality of reproductive system physiology	374407	DNAJB13	OMIM:617091
HP:0000080	Abnormality of reproductive system physiology	374407	DNAJB13	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	139212	DNAAF6	OMIM:300991
HP:0000080	Abnormality of reproductive system physiology	139212	DNAAF6	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	1497	CTNS	OMIM:219800
HP:0000080	Abnormality of reproductive system physiology	84074	QRICH2	OMIM:618341
HP:0000080	Abnormality of reproductive system physiology	11055	ZPBP	OMIM:619799
HP:0000080	Abnormality of reproductive system physiology	83894	TTC29	OMIM:618745
HP:0000080	Abnormality of reproductive system physiology	8556	CDC14A	OMIM:608653
HP:0000080	Abnormality of reproductive system physiology	79925	SPEF2	OMIM:618751
HP:0000080	Abnormality of reproductive system physiology	79925	SPEF2	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	201134	CEP112	OMIM:619044
HP:0000080	Abnormality of reproductive system physiology	2175	FANCA	OMIM:227650
HP:0000080	Abnormality of reproductive system physiology	146845	CFAP52	OMIM:619607
HP:0000080	Abnormality of reproductive system physiology	2212	FCGR2A	OMIM:219700
HP:0000080	Abnormality of reproductive system physiology	7040	TGFB1	OMIM:219700
HP:0000080	Abnormality of reproductive system physiology	54970	TTC12	OMIM:618801
HP:0000080	Abnormality of reproductive system physiology	54970	TTC12	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	80726	IQCN	OMIM:620170
HP:0000080	Abnormality of reproductive system physiology	6795	AURKC	OMIM:243060
HP:0000080	Abnormality of reproductive system physiology	80705	TSGA10	OMIM:617961
HP:0000080	Abnormality of reproductive system physiology	269	AMHR2	OMIM:261550
HP:0000080	Abnormality of reproductive system physiology	268	AMH	OMIM:261550
HP:0000080	Abnormality of reproductive system physiology	122481	AK7	OMIM:617965
HP:0000080	Abnormality of reproductive system physiology	6845	VAMP7	ORPHA:251510
HP:0000080	Abnormality of reproductive system physiology	51741	WWOX	ORPHA:251510
HP:0000080	Abnormality of reproductive system physiology	58524	DMRT3	ORPHA:251510
HP:0000080	Abnormality of reproductive system physiology	23414	ZFPM2	ORPHA:251510
HP:0000080	Abnormality of reproductive system physiology	2626	GATA4	ORPHA:251510
HP:0000080	Abnormality of reproductive system physiology	9082	XKRY	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	8284	KDM5D	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	442862	PRY2	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	9081	PRY	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	140032	RPS4Y2	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	9426	CDY2A	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	9083	BPY2	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	86614	HSFY1	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	9084	VCY	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	9085	CDY1	OMIM:415000
HP:0000080	Abnormality of reproductive system physiology	1588	CYP19A1	ORPHA:91
HP:0000080	Abnormality of reproductive system physiology	339829	CCDC39	OMIM:613807
HP:0000080	Abnormality of reproductive system physiology	339829	CCDC39	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	27019	DNAI1	OMIM:244400
HP:0000080	Abnormality of reproductive system physiology	27019	DNAI1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	55012	PPP2R3C	OMIM:618420
HP:0000080	Abnormality of reproductive system physiology	25981	DNAH1	OMIM:617576
HP:0000080	Abnormality of reproductive system physiology	25981	DNAH1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	199223	TTC21A	OMIM:618429
HP:0000080	Abnormality of reproductive system physiology	55329	MNS1	OMIM:618948
HP:0000080	Abnormality of reproductive system physiology	89869	PLCZ1	OMIM:617214
HP:0000080	Abnormality of reproductive system physiology	64446	DNAI2	OMIM:612444
HP:0000080	Abnormality of reproductive system physiology	64446	DNAI2	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	144406	CFAP251	OMIM:618152
HP:0000080	Abnormality of reproductive system physiology	401024	FSIP2	OMIM:618153
HP:0000080	Abnormality of reproductive system physiology	84660	CCDC62	OMIM:619803
HP:0000080	Abnormality of reproductive system physiology	54919	DNAAF5	OMIM:614874
HP:0000080	Abnormality of reproductive system physiology	54919	DNAAF5	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	151254	C2CD6	OMIM:619805
HP:0000080	Abnormality of reproductive system physiology	85452	CFAP74	OMIM:620197
HP:0000080	Abnormality of reproductive system physiology	146754	DNAH2	OMIM:619094
HP:0000080	Abnormality of reproductive system physiology	1769	DNAH8	OMIM:619095
HP:0000080	Abnormality of reproductive system physiology	55779	CFAP44	OMIM:617593
HP:0000080	Abnormality of reproductive system physiology	80217	CFAP43	OMIM:617592
HP:0000080	Abnormality of reproductive system physiology	284382	ACTL9	OMIM:619258
HP:0000080	Abnormality of reproductive system physiology	283417	DPY19L2	OMIM:613958
HP:0000080	Abnormality of reproductive system physiology	9247	GCM2	ORPHA:2239
HP:0000080	Abnormality of reproductive system physiology	115948	ODAD3	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	54768	HYDIN	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	352909	DNAAF3	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	27148	STK36	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	51314	NME8	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	152110	NEK10	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	8481	OFD1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	2302	FOXJ1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	221421	RSPH9	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	85478	CCDC65	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	55036	CCDC40	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	51364	ZMYND10	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	6674	SPAG1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	83544	DNAL1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	89765	RSPH1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	83538	ODAD4	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	200373	CFAP221	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	55172	DNAAF2	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	161582	DNAAF4	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	2622	GAS8	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	23639	DNAAF11	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	23639	DNAAF11	OMIM:614935
HP:0000080	Abnormality of reproductive system physiology	345895	RSPH4A	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	6103	RPGR	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	388389	CCDC103	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	55130	ODAD2	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	1767	DNAH5	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	83861	RSPH3	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	345643	MCIDAS	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	56683	CFAP298	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	10309	CCNO	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	115399	LRRC56	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	123872	DNAAF1	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	85016	CFAP300	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	8701	DNAH11	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	1770	DNAH9	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	246176	GAS2L2	ORPHA:244
HP:0000080	Abnormality of reproductive system physiology	200162	SPAG17	OMIM:619380
HP:0000080	Abnormality of reproductive system physiology	93953	GCNA	OMIM:301077
HP:0000080	Abnormality of reproductive system physiology	116369	SLC26A8	OMIM:606766
HP:0000080	Abnormality of reproductive system physiology	159686	CFAP58	OMIM:619144
HP:0000080	Abnormality of reproductive system physiology	199720	GGN	OMIM:619826
HP:0000080	Abnormality of reproductive system physiology	676	BRDT	OMIM:617644
HP:0000080	Abnormality of reproductive system physiology	83893	SPATA16	OMIM:102530
HP:0000080	Abnormality of reproductive system physiology	5604	MAP2K1	OMIM:163950
HP:0000080	Abnormality of reproductive system physiology	668	FOXL2	OMIM:110100
HP:0000080	Abnormality of reproductive system physiology	668	FOXL2	ORPHA:572333
HP:0000080	Abnormality of reproductive system physiology	668	FOXL2	OMIM:608996
HP:0000080	Abnormality of reproductive system physiology	355	FAS	ORPHA:3261
HP:0000080	Abnormality of reproductive system physiology	356	FASLG	ORPHA:3261
HP:0000080	Abnormality of reproductive system physiology	5580	PRKCD	ORPHA:3261
HP:0000080	Abnormality of reproductive system physiology	843	CASP10	ORPHA:3261
HP:0000080	Abnormality of reproductive system physiology	10125	RASGRP1	ORPHA:3261
HP:0000080	Abnormality of reproductive system physiology	55213	RCBTB1	OMIM:617175
HP:0000080	Abnormality of reproductive system physiology	1730	DIAPH2	OMIM:300511
HP:0000080	Abnormality of reproductive system physiology	9210	BMP15	OMIM:300510
HP:0000080	Abnormality of reproductive system physiology	9210	BMP15	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	4683	NBN	OMIM:251260
HP:0000080	Abnormality of reproductive system physiology	9453	GGPS1	OMIM:619518
HP:0000080	Abnormality of reproductive system physiology	84515	MCM8	OMIM:612885
HP:0000080	Abnormality of reproductive system physiology	2592	GALT	OMIM:230400
HP:0000080	Abnormality of reproductive system physiology	2592	GALT	ORPHA:79239
HP:0000080	Abnormality of reproductive system physiology	125150	ZSWIM7	OMIM:619834
HP:0000080	Abnormality of reproductive system physiology	125150	ZSWIM7	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	64682	ANAPC1	OMIM:618625
HP:0000080	Abnormality of reproductive system physiology	64682	ANAPC1	ORPHA:221008
HP:0000080	Abnormality of reproductive system physiology	84570	COL25A1	ORPHA:91411
HP:0000080	Abnormality of reproductive system physiology	79776	ZFHX4	ORPHA:91411
HP:0000080	Abnormality of reproductive system physiology	79228	THOC6	ORPHA:363444
HP:0000080	Abnormality of reproductive system physiology	79228	THOC6	OMIM:613680
HP:0000080	Abnormality of reproductive system physiology	11077	HSF2BP	OMIM:619245
HP:0000080	Abnormality of reproductive system physiology	54453	RIN2	ORPHA:217335
HP:0000080	Abnormality of reproductive system physiology	317761	C14orf39	OMIM:619203
HP:0000080	Abnormality of reproductive system physiology	79983	POF1B	OMIM:300604
HP:0000080	Abnormality of reproductive system physiology	2332	FMR1	OMIM:311360
HP:0000080	Abnormality of reproductive system physiology	2332	FMR1	ORPHA:261483
HP:0000080	Abnormality of reproductive system physiology	2332	FMR1	OMIM:300623
HP:0000080	Abnormality of reproductive system physiology	57505	AARS2	OMIM:615889
HP:0000080	Abnormality of reproductive system physiology	164045	HFM1	OMIM:615724
HP:0000080	Abnormality of reproductive system physiology	10734	STAG3	OMIM:615723
HP:0000080	Abnormality of reproductive system physiology	11261	CHP1	OMIM:618438
HP:0000080	Abnormality of reproductive system physiology	8888	MCM3AP	OMIM:618124
HP:0000080	Abnormality of reproductive system physiology	326	AIRE	OMIM:240300
HP:0000080	Abnormality of reproductive system physiology	51434	ANAPC7	OMIM:619699
HP:0000080	Abnormality of reproductive system physiology	646	BNC1	OMIM:618723
HP:0000080	Abnormality of reproductive system physiology	646	BNC1	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	2072	ERCC4	OMIM:610965
HP:0000080	Abnormality of reproductive system physiology	55750	AGK	OMIM:212350
HP:0000080	Abnormality of reproductive system physiology	56652	TWNK	OMIM:609286
HP:0000080	Abnormality of reproductive system physiology	1967	EIF2B1	OMIM:603896
HP:0000080	Abnormality of reproductive system physiology	29893	PSMC3IP	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	171568	POLR3H	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	57122	NUP107	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	23514	SPIDR	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	23514	SPIDR	OMIM:619665
HP:0000080	Abnormality of reproductive system physiology	2492	FSHR	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	56945	MRPS22	ORPHA:243
HP:0000080	Abnormality of reproductive system physiology	641	BLM	ORPHA:125
HP:0000080	Abnormality of reproductive system physiology	2583	B4GALNT1	ORPHA:101006
HP:0000080	Abnormality of reproductive system physiology	7516	XRCC2	OMIM:619146
HP:0000080	Abnormality of reproductive system physiology	26284	ERAL1	OMIM:617565
HP:0000080	Abnormality of reproductive system physiology	23395	LARS2	OMIM:615300
HP:0000080	Abnormality of reproductive system physiology	344018	FIGLA	OMIM:612310
HP:0000080	Abnormality of reproductive system physiology	11232	POLG2	OMIM:619425
HP:0000080	Abnormality of reproductive system physiology	4000	LMNA	ORPHA:79474
HP:0000080	Abnormality of reproductive system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	9657	IQCB1	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	10806	SDCCAG8	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	27130	INVS	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	80184	CEP290	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	4867	NPHP1	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	261734	NPHP4	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	57728	WDR19	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	27031	NPHP3	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	22897	CEP164	ORPHA:3156
HP:0000080	Abnormality of reproductive system physiology	135935	NOBOX	OMIM:611548
HP:0000080	Abnormality of reproductive system physiology	2584	GALK1	ORPHA:79237
HP:0000080	Abnormality of reproductive system physiology	80185	TTI2	ORPHA:391307
HP:0000080	Abnormality of reproductive system physiology	283677	REC114	OMIM:619176
HP:0000080	Abnormality of reproductive system physiology	7784	ZP3	OMIM:617712
HP:0000080	Abnormality of reproductive system physiology	22917	ZP1	OMIM:615774
HP:0000080	Abnormality of reproductive system physiology	150365	MEI1	OMIM:618431
HP:0000080	Abnormality of reproductive system physiology	79703	TOP6BL	OMIM:618432
HP:0000080	Abnormality of reproductive system physiology	431705	ASTL	OMIM:619643
HP:0000080	Abnormality of reproductive system physiology	7783	ZP2	OMIM:618353
HP:0000080	Abnormality of reproductive system physiology	79816	TLE6	OMIM:616814
HP:0000080	Abnormality of reproductive system physiology	5241	PGR	OMIM:264080
HP:0000080	Abnormality of reproductive system physiology	678	ZFP36L2	OMIM:620154
HP:0000080	Abnormality of reproductive system physiology	4001	LMNB1	OMIM:169500
HP:0000080	Abnormality of reproductive system physiology	340719	NANOS1	ORPHA:399808
HP:0000080	Abnormality of reproductive system physiology	340719	NANOS1	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	6691	SPINK2	OMIM:618091
HP:0000080	Abnormality of reproductive system physiology	402381	SOHLH1	OMIM:618115
HP:0000080	Abnormality of reproductive system physiology	402381	SOHLH1	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	285498	RNF212	OMIM:619673
HP:0000080	Abnormality of reproductive system physiology	158401	SHOC1	OMIM:619949
HP:0000080	Abnormality of reproductive system physiology	6875	TAF4B	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	56155	TEX14	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	84225	ZMYND15	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	50511	SYCP3	ORPHA:399805
HP:0000080	Abnormality of reproductive system physiology	9075	CLDN2	OMIM:301060
HP:0000080	Abnormality of reproductive system physiology	3284	HSD3B2	ORPHA:90791
HP:0000080	Abnormality of reproductive system physiology	51726	DNAJB11	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	23193	GANAB	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	5310	PKD1	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	5311	PKD2	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	29880	ALG5	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	9742	IFT140	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	79796	ALG9	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	80114	BICC1	ORPHA:730
HP:0000080	Abnormality of reproductive system physiology	6928	HNF1B	OMIM:137920
HP:0000080	Abnormality of reproductive system physiology	23568	ARL2BP	OMIM:615434
HP:0000080	Abnormality of reproductive system physiology	755	CFAP410	OMIM:602271
HP:0000080	Abnormality of reproductive system physiology	79846	CFAP69	OMIM:617959
HP:0000080	Abnormality of reproductive system physiology	57704	GBA2	ORPHA:320391
HP:0000080	Abnormality of reproductive system physiology	5192	PEX10	OMIM:614871
HP:0000080	Abnormality of reproductive system physiology	10165	SLC25A13	ORPHA:247585
HP:0000080	Abnormality of reproductive system physiology	10059	DNM1L	ORPHA:330050
HP:0000080	Abnormality of reproductive system physiology	2690	GHR	OMIM:262500
HP:0000080	Abnormality of reproductive system physiology	1621	DBH	ORPHA:230
HP:0000080	Abnormality of reproductive system physiology	1621	DBH	OMIM:223360
HP:0000080	Abnormality of reproductive system physiology	6253	RTN2	ORPHA:100993
HP:0000080	Abnormality of reproductive system physiology	51271	UBAP1	ORPHA:100993
HP:0000080	Abnormality of reproductive system physiology	54832	VPS13C	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	11315	PARK7	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	7345	UCHL1	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	27429	HTRA2	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	120892	LRRK2	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	9829	DNAJC6	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	6622	SNCA	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	5420	PODXL	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	65018	PINK1	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	8867	SYNJ1	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	5071	PRKN	ORPHA:2828
HP:0000080	Abnormality of reproductive system physiology	215	ABCD1	ORPHA:139399
HP:0000080	Abnormality of reproductive system physiology	27235	COQ2	ORPHA:227510
HP:0000080	Abnormality of reproductive system physiology	27235	COQ2	ORPHA:98933
HP:0000080	Abnormality of reproductive system physiology	2535	FZD2	OMIM:164745
HP:0000080	Abnormality of reproductive system physiology	3106	HLA-B	ORPHA:36426
HP:0000080	Abnormality of reproductive system physiology	10320	IKZF1	ORPHA:36426
HP:0000080	Abnormality of reproductive system physiology	84818	IL17RC	ORPHA:1334
HP:0000080	Abnormality of reproductive system physiology	64581	CLEC7A	ORPHA:1334
HP:0000080	Abnormality of reproductive system physiology	23765	IL17RA	ORPHA:1334
HP:0000080	Abnormality of reproductive system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0000080	Abnormality of reproductive system physiology	112744	IL17F	ORPHA:1334
HP:0000080	Abnormality of reproductive system physiology	1235	CCR6	ORPHA:220393
HP:0000080	Abnormality of reproductive system physiology	1490	CCN2	ORPHA:220393
HP:0000080	Abnormality of reproductive system physiology	3663	IRF5	ORPHA:220393
HP:0000080	Abnormality of reproductive system physiology	857	CAV1	ORPHA:220393
HP:0000080	Abnormality of reproductive system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0000080	Abnormality of reproductive system physiology	10388	SYCP2	OMIM:258150
HP:0000080	Abnormality of reproductive system physiology	375307	CATIP	OMIM:619379
HP:0000080	Abnormality of reproductive system physiology	254528	MEIOB	OMIM:617706
HP:0000080	Abnormality of reproductive system physiology	56154	TEX15	OMIM:617960
HP:0000080	Abnormality of reproductive system physiology	122402	TDRD9	OMIM:618110
HP:0000080	Abnormality of reproductive system physiology	154197	PNLDC1	OMIM:619528
HP:0000080	Abnormality of reproductive system physiology	93426	SYCE1	OMIM:616950
HP:0000080	Abnormality of reproductive system physiology	145645	TERB2	OMIM:619645
HP:0000080	Abnormality of reproductive system physiology	283847	TERB1	OMIM:619646
HP:0000080	Abnormality of reproductive system physiology	54456	MOV10L1	OMIM:619878
HP:0000080	Abnormality of reproductive system physiology	56159	TEX11	OMIM:309120
HP:0000080	Abnormality of reproductive system physiology	24145	PANX1	ORPHA:488191
HP:0000080	Abnormality of reproductive system physiology	494551	WEE2	ORPHA:488191
HP:0000080	Abnormality of reproductive system physiology	197135	PATL2	ORPHA:488191
HP:0000080	Abnormality of reproductive system physiology	347688	TUBB8	ORPHA:488191
HP:0000080	Abnormality of reproductive system physiology	9319	TRIP13	OMIM:619011
HP:0000080	Abnormality of reproductive system physiology	79798	ARMC5	ORPHA:189427
HP:0000080	Abnormality of reproductive system physiology	3064	HTT	ORPHA:399
HP:0000080	Abnormality of reproductive system physiology	6515	SLC2A3	ORPHA:399
HP:0000080	Abnormality of reproductive system physiology	5566	PRKACA	ORPHA:189439
HP:0000080	Abnormality of reproductive system physiology	8622	PDE8B	ORPHA:189439
HP:0000080	Abnormality of reproductive system physiology	25790	CFAP45	OMIM:619608
HP:0000080	Abnormality of reproductive system physiology	367	AR	ORPHA:90797
HP:0000080	Abnormality of reproductive system physiology	1528	CYB5A	ORPHA:90796
HP:0000080	Abnormality of reproductive system physiology	1586	CYP17A1	ORPHA:90796
HP:0000080	Abnormality of reproductive system physiology	3481	IGF2	ORPHA:397590
HP:0000080	Abnormality of reproductive system physiology	1028	CDKN1C	ORPHA:397590
HP:0000080	Abnormality of reproductive system physiology	5324	PLAG1	ORPHA:397590
HP:0000080	Abnormality of reproductive system physiology	8091	HMGA2	ORPHA:397590
HP:0000080	Abnormality of reproductive system physiology	84168	ANTXR1	ORPHA:2067
HP:0000080	Abnormality of reproductive system physiology	6774	STAT3	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	5371	PML	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	5914	RARA	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	359948	IRF2BP2	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	81608	FIP1L1	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	4869	NPM1	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	54880	BCOR	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	64859	NABP1	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	6777	STAT5B	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	4926	NUMA1	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	7704	ZBTB16	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	79718	TBL1XR1	ORPHA:520
HP:0000080	Abnormality of reproductive system physiology	11234	HPS5	OMIM:614074
HP:0000080	Abnormality of reproductive system physiology	2313	FLI1	ORPHA:370348
HP:0000080	Abnormality of reproductive system physiology	2153	F5	ORPHA:326
HP:0000080	Abnormality of reproductive system physiology	2581	GALC	ORPHA:206448
HP:0000080	Abnormality of reproductive system physiology	3662	IRF4	ORPHA:3452
HP:0000080	Abnormality of reproductive system physiology	4693	NDP	ORPHA:649
HP:0000080	Abnormality of reproductive system physiology	3043	HBB	OMIM:603903
HP:0000080	Abnormality of reproductive system physiology	2243	FGA	ORPHA:98880
HP:0000080	Abnormality of reproductive system physiology	2244	FGB	ORPHA:98880
HP:0000080	Abnormality of reproductive system physiology	2266	FGG	ORPHA:98880
HP:0000081	Duplicated collecting system	8036	SHOC2	OMIM:607721
HP:0000081	Duplicated collecting system	2177	FANCD2	OMIM:227646
HP:0000081	Duplicated collecting system	3376	IARS1	OMIM:617093
HP:0000081	Duplicated collecting system	3376	IARS1	ORPHA:541423
HP:0000081	Duplicated collecting system	2176	FANCC	OMIM:227645
HP:0000081	Duplicated collecting system	23126	POGZ	OMIM:616364
HP:0000081	Duplicated collecting system	23126	POGZ	ORPHA:468678
HP:0000081	Duplicated collecting system	9487	PIGL	OMIM:280000
HP:0000081	Duplicated collecting system	9894	TELO2	ORPHA:488642
HP:0000081	Duplicated collecting system	8626	TP63	OMIM:604292
HP:0000081	Duplicated collecting system	55593	OTUD5	OMIM:301056
HP:0000081	Duplicated collecting system	80781	COL18A1	OMIM:267750
HP:0000081	Duplicated collecting system	3909	LAMA3	ORPHA:79404
HP:0000081	Duplicated collecting system	3918	LAMC2	ORPHA:79404
HP:0000081	Duplicated collecting system	3914	LAMB3	ORPHA:79404
HP:0000081	Duplicated collecting system	1717	DHCR7	OMIM:270400
HP:0000081	Duplicated collecting system	5700	PSMC1	OMIM:620071
HP:0000081	Duplicated collecting system	2178	FANCE	OMIM:600901
HP:0000081	Duplicated collecting system	5594	MAPK1	OMIM:619087
HP:0000081	Duplicated collecting system	5277	PIGA	OMIM:300868
HP:0000081	Duplicated collecting system	2175	FANCA	OMIM:227650
HP:0000081	Duplicated collecting system	7148	TNXB	OMIM:615963
HP:0000081	Duplicated collecting system	8085	KMT2D	ORPHA:2322
HP:0000081	Duplicated collecting system	7403	KDM6A	ORPHA:2322
HP:0000081	Duplicated collecting system	182	JAG1	OMIM:118450
HP:0000085	Horseshoe kidney	2137	EXTL3	ORPHA:508533
HP:0000085	Horseshoe kidney	22827	PUF60	ORPHA:508498
HP:0000085	Horseshoe kidney	6309	SC5D	ORPHA:46059
HP:0000085	Horseshoe kidney	6309	SC5D	OMIM:607330
HP:0000085	Horseshoe kidney	10054	UBA2	OMIM:619959
HP:0000085	Horseshoe kidney	6650	CAPN15	OMIM:619318
HP:0000085	Horseshoe kidney	10274	STAG1	ORPHA:502434
HP:0000085	Horseshoe kidney	1736	DKC1	OMIM:305000
HP:0000085	Horseshoe kidney	57167	SALL4	OMIM:607323
HP:0000085	Horseshoe kidney	57167	SALL4	ORPHA:959
HP:0000085	Horseshoe kidney	64220	STRA6	OMIM:601186
HP:0000085	Horseshoe kidney	64220	STRA6	ORPHA:2470
HP:0000085	Horseshoe kidney	27125	AFF4	ORPHA:444077
HP:0000085	Horseshoe kidney	27125	AFF4	OMIM:616368
HP:0000085	Horseshoe kidney	7490	WT1	ORPHA:3097
HP:0000085	Horseshoe kidney	7490	WT1	OMIM:608978
HP:0000085	Horseshoe kidney	29998	BICRA	OMIM:619325
HP:0000085	Horseshoe kidney	6651	SON	OMIM:617140
HP:0000085	Horseshoe kidney	6651	SON	ORPHA:500150
HP:0000085	Horseshoe kidney	65993	MRPS34	OMIM:617664
HP:0000085	Horseshoe kidney	2175	FANCA	OMIM:227650
HP:0000085	Horseshoe kidney	55215	FANCI	OMIM:609053
HP:0000085	Horseshoe kidney	83479	DDX59	OMIM:174300
HP:0000085	Horseshoe kidney	55636	CHD7	ORPHA:138
HP:0000085	Horseshoe kidney	55636	CHD7	OMIM:214800
HP:0000085	Horseshoe kidney	9723	SEMA3E	ORPHA:138
HP:0000085	Horseshoe kidney	7547	ZIC3	OMIM:306955
HP:0000085	Horseshoe kidney	2263	FGFR2	ORPHA:93260
HP:0000085	Horseshoe kidney	10584	COLEC10	OMIM:248340
HP:0000085	Horseshoe kidney	3899	AFF3	OMIM:619297
HP:0000085	Horseshoe kidney	113189	CHST14	ORPHA:2953
HP:0000085	Horseshoe kidney	29940	DSE	ORPHA:2953
HP:0000085	Horseshoe kidney	6597	SMARCA4	ORPHA:1465
HP:0000085	Horseshoe kidney	6598	SMARCB1	ORPHA:1465
HP:0000085	Horseshoe kidney	6659	SOX4	ORPHA:1465
HP:0000085	Horseshoe kidney	8289	ARID1A	ORPHA:1465
HP:0000085	Horseshoe kidney	5977	DPF2	ORPHA:1465
HP:0000085	Horseshoe kidney	6601	SMARCC2	ORPHA:1465
HP:0000085	Horseshoe kidney	6602	SMARCD1	ORPHA:1465
HP:0000085	Horseshoe kidney	57492	ARID1B	ORPHA:1465
HP:0000085	Horseshoe kidney	196528	ARID2	ORPHA:1465
HP:0000085	Horseshoe kidney	6605	SMARCE1	ORPHA:1465
HP:0000085	Horseshoe kidney	6664	SOX11	ORPHA:1465
HP:0000085	Horseshoe kidney	1147	CHUK	OMIM:613630
HP:0000085	Horseshoe kidney	157570	ESCO2	ORPHA:2319
HP:0000085	Horseshoe kidney	157570	ESCO2	OMIM:268300
HP:0000085	Horseshoe kidney	157570	ESCO2	OMIM:216100
HP:0000085	Horseshoe kidney	64093	SMOC1	ORPHA:1106
HP:0000085	Horseshoe kidney	25778	DSTYK	ORPHA:101003
HP:0000085	Horseshoe kidney	7319	UBE2A	OMIM:300860
HP:0000085	Horseshoe kidney	8091	HMGA2	ORPHA:94063
HP:0000085	Horseshoe kidney	23592	LEMD3	ORPHA:94063
HP:0000085	Horseshoe kidney	2178	FANCE	OMIM:600901
HP:0000085	Horseshoe kidney	10524	KAT5	OMIM:619103
HP:0000085	Horseshoe kidney	7403	KDM6A	OMIM:300867
HP:0000085	Horseshoe kidney	6885	MAP3K7	OMIM:157800
HP:0000085	Horseshoe kidney	8241	RBM10	OMIM:311900
HP:0000085	Horseshoe kidney	8241	RBM10	ORPHA:2886
HP:0000085	Horseshoe kidney	3192	HNRNPU	ORPHA:238769
HP:0000085	Horseshoe kidney	64840	PORCN	OMIM:305600
HP:0000085	Horseshoe kidney	64840	PORCN	ORPHA:2092
HP:0000085	Horseshoe kidney	4613	MYCN	ORPHA:391641
HP:0000085	Horseshoe kidney	5447	POR	OMIM:201750
HP:0000085	Horseshoe kidney	6628	SNRPB	OMIM:117650
HP:0000085	Horseshoe kidney	57545	CC2D2A	OMIM:612284
HP:0000085	Horseshoe kidney	6135	RPL11	OMIM:612562
HP:0000085	Horseshoe kidney	6135	RPL11	ORPHA:124
HP:0000085	Horseshoe kidney	54361	WNT4	ORPHA:3109
HP:0000085	Horseshoe kidney	9508	ADAMTS3	ORPHA:2136
HP:0000085	Horseshoe kidney	147372	CCBE1	ORPHA:2136
HP:0000085	Horseshoe kidney	147372	CCBE1	OMIM:235510
HP:0000085	Horseshoe kidney	79633	FAT4	ORPHA:2136
HP:0000085	Horseshoe kidney	10283	CWC27	OMIM:250410
HP:0000085	Horseshoe kidney	10283	CWC27	ORPHA:166035
HP:0000085	Horseshoe kidney	3845	KRAS	OMIM:163200
HP:0000085	Horseshoe kidney	4893	NRAS	OMIM:163200
HP:0000085	Horseshoe kidney	3265	HRAS	OMIM:163200
HP:0000085	Horseshoe kidney	6928	HNF1B	ORPHA:93111
HP:0000085	Horseshoe kidney	2887	GRB10	ORPHA:96182
HP:0000085	Horseshoe kidney	79228	THOC6	ORPHA:363444
HP:0000085	Horseshoe kidney	79228	THOC6	OMIM:613680
HP:0000085	Horseshoe kidney	78989	COLEC11	OMIM:265050
HP:0000085	Horseshoe kidney	92002	CCNQ	ORPHA:140952
HP:0000085	Horseshoe kidney	3187	HNRNPH1	OMIM:620083
HP:0000085	Horseshoe kidney	6748	SSR4	ORPHA:370927
HP:0000085	Horseshoe kidney	2177	FANCD2	OMIM:227646
HP:0000085	Horseshoe kidney	2176	FANCC	OMIM:227645
HP:0000085	Horseshoe kidney	5915	RARB	ORPHA:2470
HP:0000085	Horseshoe kidney	9319	TRIP13	OMIM:617598
HP:0000085	Horseshoe kidney	84464	SLX4	OMIM:613951
HP:0000085	Horseshoe kidney	9939	RBM8A	ORPHA:3320
HP:0000085	Horseshoe kidney	9939	RBM8A	OMIM:274000
HP:0000085	Horseshoe kidney	3110	MNX1	OMIM:176450
HP:0000085	Horseshoe kidney	10225	CD96	ORPHA:1308
HP:0000085	Horseshoe kidney	5076	PAX2	OMIM:120330
HP:0000085	Horseshoe kidney	6138	RPL15	ORPHA:124
HP:0000085	Horseshoe kidney	6229	RPS24	ORPHA:124
HP:0000085	Horseshoe kidney	6125	RPL5	ORPHA:124
HP:0000085	Horseshoe kidney	6204	RPS10	ORPHA:124
HP:0000085	Horseshoe kidney	6224	RPS20	ORPHA:124
HP:0000085	Horseshoe kidney	6165	RPL35A	ORPHA:124
HP:0000085	Horseshoe kidney	2623	GATA1	ORPHA:124
HP:0000085	Horseshoe kidney	6223	RPS19	ORPHA:124
HP:0000085	Horseshoe kidney	6232	RPS27	ORPHA:124
HP:0000085	Horseshoe kidney	6231	RPS26	ORPHA:124
HP:0000085	Horseshoe kidney	11224	RPL35	ORPHA:124
HP:0000085	Horseshoe kidney	6160	RPL31	ORPHA:124
HP:0000085	Horseshoe kidney	6218	RPS17	ORPHA:124
HP:0000085	Horseshoe kidney	6201	RPS7	ORPHA:124
HP:0000085	Horseshoe kidney	6155	RPL27	ORPHA:124
HP:0000085	Horseshoe kidney	6154	RPL26	ORPHA:124
HP:0000085	Horseshoe kidney	6210	RPS15A	ORPHA:124
HP:0000085	Horseshoe kidney	90121	TSR2	ORPHA:124
HP:0000085	Horseshoe kidney	6141	RPL18	ORPHA:124
HP:0000085	Horseshoe kidney	6235	RPS29	ORPHA:124
HP:0000085	Horseshoe kidney	6234	RPS28	ORPHA:124
HP:0000085	Horseshoe kidney	51816	ADA2	ORPHA:124
HP:0000085	Horseshoe kidney	51626	DYNC2LI1	OMIM:617088
HP:0000085	Horseshoe kidney	5087	PBX1	OMIM:617641
HP:0000085	Horseshoe kidney	6736	SRY	ORPHA:1772
HP:0000085	Horseshoe kidney	1642	DDB1	OMIM:619426
HP:0000085	Horseshoe kidney	157657	CFAP418	OMIM:617406
HP:0000085	Horseshoe kidney	26123	TCTN3	OMIM:614815
HP:0000085	Horseshoe kidney	80000	GREB1L	OMIM:617805
HP:0000085	Horseshoe kidney	168667	BMPER	OMIM:608022
HP:0000086	Ectopic kidney	57167	SALL4	ORPHA:233
HP:0000086	Ectopic kidney	9935	MAFB	ORPHA:233
HP:0000086	Ectopic kidney	1123	CHN1	ORPHA:233
HP:0000086	Ectopic kidney	2737	GLI3	ORPHA:672
HP:0000086	Ectopic kidney	2737	GLI3	OMIM:146510
HP:0000086	Ectopic kidney	6611	SMS	ORPHA:3063
HP:0000086	Ectopic kidney	6628	SNRPB	OMIM:117650
HP:0000086	Ectopic kidney	83700	JAM3	OMIM:613730
HP:0000086	Ectopic kidney	54361	WNT4	ORPHA:3109
HP:0000086	Ectopic kidney	9508	ADAMTS3	ORPHA:2136
HP:0000086	Ectopic kidney	147372	CCBE1	ORPHA:2136
HP:0000086	Ectopic kidney	147372	CCBE1	OMIM:235510
HP:0000086	Ectopic kidney	79633	FAT4	ORPHA:2136
HP:0000086	Ectopic kidney	10992	SF3B2	OMIM:164210
HP:0000086	Ectopic kidney	81839	VANGL1	ORPHA:3027
HP:0000086	Ectopic kidney	80199	FUZ	ORPHA:3027
HP:0000086	Ectopic kidney	8204	NRIP1	OMIM:618270
HP:0000086	Ectopic kidney	5932	RBBP8	OMIM:606744
HP:0000086	Ectopic kidney	2175	FANCA	OMIM:227650
HP:0000086	Ectopic kidney	92002	CCNQ	ORPHA:140952
HP:0000086	Ectopic kidney	8239	USP9X	OMIM:300919
HP:0000086	Ectopic kidney	23384	SPECC1L	ORPHA:1519
HP:0000086	Ectopic kidney	6299	SALL1	ORPHA:857
HP:0000086	Ectopic kidney	51339	DACT1	ORPHA:857
HP:0000086	Ectopic kidney	6231	RPS26	OMIM:613309
HP:0000086	Ectopic kidney	1763	DNA2	OMIM:615807
HP:0000086	Ectopic kidney	2177	FANCD2	OMIM:227646
HP:0000086	Ectopic kidney	2176	FANCC	OMIM:227645
HP:0000086	Ectopic kidney	57492	ARID1B	OMIM:135900
HP:0000086	Ectopic kidney	7518	XRCC4	OMIM:616541
HP:0000086	Ectopic kidney	25836	NIPBL	OMIM:122470
HP:0000086	Ectopic kidney	3239	HOXD13	ORPHA:887
HP:0000086	Ectopic kidney	8091	HMGA2	ORPHA:94063
HP:0000086	Ectopic kidney	23592	LEMD3	ORPHA:94063
HP:0000086	Ectopic kidney	2178	FANCE	OMIM:600901
HP:0000086	Ectopic kidney	54101	RIPK4	OMIM:263650
HP:0000086	Ectopic kidney	5087	PBX1	OMIM:617641
HP:0000086	Ectopic kidney	7516	XRCC2	OMIM:617247
HP:0000086	Ectopic kidney	90417	KNSTRN	OMIM:613328
HP:0000086	Ectopic kidney	5293	PIK3CD	OMIM:613328
HP:0000086	Ectopic kidney	4038	LRP4	OMIM:212780
HP:0000086	Ectopic kidney	11005	SPINK5	ORPHA:634
HP:0000086	Ectopic kidney	2188	FANCF	OMIM:603467
HP:0000086	Ectopic kidney	22827	PUF60	ORPHA:508498
HP:0000086	Ectopic kidney	22827	PUF60	ORPHA:508488
HP:0000086	Ectopic kidney	84464	SLX4	OMIM:613951
HP:0000086	Ectopic kidney	6804	STX1A	ORPHA:904
HP:0000086	Ectopic kidney	7461	CLIP2	ORPHA:904
HP:0000086	Ectopic kidney	84277	DNAJC30	ORPHA:904
HP:0000086	Ectopic kidney	8468	FKBP6	ORPHA:904
HP:0000086	Ectopic kidney	5982	RFC2	ORPHA:904
HP:0000086	Ectopic kidney	2969	GTF2I	ORPHA:904
HP:0000086	Ectopic kidney	3984	LIMK1	ORPHA:904
HP:0000086	Ectopic kidney	9569	GTF2IRD1	ORPHA:904
HP:0000086	Ectopic kidney	155382	VPS37D	ORPHA:904
HP:0000086	Ectopic kidney	155368	METTL27	ORPHA:904
HP:0000086	Ectopic kidney	114049	BUD23	ORPHA:904
HP:0000086	Ectopic kidney	7458	EIF4H	ORPHA:904
HP:0000086	Ectopic kidney	84163	GTF2IRD2	ORPHA:904
HP:0000086	Ectopic kidney	9275	BCL7B	ORPHA:904
HP:0000086	Ectopic kidney	26608	TBL2	ORPHA:904
HP:0000086	Ectopic kidney	653361	NCF1	ORPHA:904
HP:0000086	Ectopic kidney	135886	TMEM270	ORPHA:904
HP:0000086	Ectopic kidney	51085	MLXIPL	ORPHA:904
HP:0000086	Ectopic kidney	51085	MLXIPL	OMIM:194050
HP:0000086	Ectopic kidney	9031	BAZ1B	ORPHA:904
HP:0000086	Ectopic kidney	2006	ELN	ORPHA:904
HP:0000086	Ectopic kidney	2006	ELN	OMIM:194050
HP:0000086	Ectopic kidney	51322	WAC	ORPHA:466950
HP:0000086	Ectopic kidney	25914	RTTN	ORPHA:468631
HP:0000086	Ectopic kidney	64220	STRA6	OMIM:601186
HP:0000086	Ectopic kidney	1859	DYRK1A	ORPHA:464311
HP:0000086	Ectopic kidney	9839	ZEB2	ORPHA:261537
HP:0000086	Ectopic kidney	9839	ZEB2	ORPHA:261552
HP:0000086	Ectopic kidney	7750	ZMYM2	OMIM:619522
HP:0000086	Ectopic kidney	1656	DDX6	OMIM:618653
HP:0000086	Ectopic kidney	5888	RAD51	OMIM:617244
HP:0000086	Ectopic kidney	2260	FGFR1	OMIM:613001
HP:0000086	Ectopic kidney	2783	GNB2	OMIM:619503
HP:0000086	Ectopic kidney	10682	EBP	OMIM:300960
HP:0000086	Ectopic kidney	7490	WT1	ORPHA:3097
HP:0000086	Ectopic kidney	83479	DDX59	ORPHA:2919
HP:0000086	Ectopic kidney	9578	CDC42BPB	OMIM:619841
HP:0000086	Ectopic kidney	348180	CTU2	OMIM:618142
HP:0000086	Ectopic kidney	8085	KMT2D	ORPHA:2322
HP:0000086	Ectopic kidney	8085	KMT2D	OMIM:147920
HP:0000086	Ectopic kidney	7403	KDM6A	ORPHA:2322
HP:0000086	Ectopic kidney	7403	KDM6A	OMIM:147920
HP:0000086	Ectopic kidney	324	APC	ORPHA:3258
HP:0000107	Renal cyst	23476	BRD4	ORPHA:199
HP:0000107	Renal cyst	9126	SMC3	ORPHA:199
HP:0000107	Renal cyst	8243	SMC1A	ORPHA:199
HP:0000107	Renal cyst	55869	HDAC8	ORPHA:199
HP:0000107	Renal cyst	5885	RAD21	ORPHA:199
HP:0000107	Renal cyst	92482	BBIP1	ORPHA:110
HP:0000107	Renal cyst	11020	IFT27	ORPHA:110
HP:0000107	Renal cyst	582	BBS1	ORPHA:110
HP:0000107	Renal cyst	49855	SCAPER	ORPHA:110
HP:0000107	Renal cyst	51057	WDPCP	ORPHA:110
HP:0000107	Renal cyst	27241	BBS9	ORPHA:110
HP:0000107	Renal cyst	84984	CEP19	ORPHA:110
HP:0000107	Renal cyst	22954	TRIM32	ORPHA:110
HP:0000107	Renal cyst	123016	TTC8	ORPHA:110
HP:0000107	Renal cyst	26160	IFT172	ORPHA:110
HP:0000107	Renal cyst	583	BBS2	ORPHA:110
HP:0000107	Renal cyst	55212	BBS7	ORPHA:110
HP:0000107	Renal cyst	157657	CFAP418	ORPHA:110
HP:0000107	Renal cyst	84100	ARL6	ORPHA:110
HP:0000107	Renal cyst	129880	BBS5	ORPHA:110
HP:0000107	Renal cyst	80173	IFT74	ORPHA:110
HP:0000107	Renal cyst	341640	FREM2	ORPHA:2052
HP:0000107	Renal cyst	80144	FRAS1	ORPHA:2052
HP:0000107	Renal cyst	23426	GRIP1	ORPHA:2052
HP:0000107	Renal cyst	3975	LHX1	ORPHA:261265
HP:0000107	Renal cyst	64840	PORCN	ORPHA:2092
HP:0000107	Renal cyst	23556	PIGN	ORPHA:2059
HP:0000107	Renal cyst	9759	HDAC4	ORPHA:1001
HP:0000107	Renal cyst	145173	B3GLCT	ORPHA:709
HP:0000107	Renal cyst	10992	SF3B2	OMIM:164210
HP:0000107	Renal cyst	1131	CHRM3	ORPHA:2970
HP:0000107	Renal cyst	7473	WNT3	ORPHA:3301
HP:0000107	Renal cyst	340419	RSPO2	ORPHA:3301
HP:0000107	Renal cyst	8405	SPOP	OMIM:618829
HP:0000107	Renal cyst	2138	EYA1	ORPHA:107
HP:0000107	Renal cyst	147912	SIX5	ORPHA:107
HP:0000107	Renal cyst	6495	SIX1	ORPHA:107
HP:0000107	Renal cyst	9839	ZEB2	ORPHA:261537
HP:0000107	Renal cyst	9839	ZEB2	ORPHA:261552
HP:0000107	Renal cyst	8204	NRIP1	OMIM:618270
HP:0000107	Renal cyst	51360	MBTPS2	OMIM:308205
HP:0000107	Renal cyst	11041	B4GAT1	OMIM:615287
HP:0000107	Renal cyst	23522	KAT6B	ORPHA:85201
HP:0000107	Renal cyst	23522	KAT6B	OMIM:606170
HP:0000107	Renal cyst	55784	MCTP2	ORPHA:1596
HP:0000107	Renal cyst	25802	LMOD1	ORPHA:2241
HP:0000107	Renal cyst	4629	MYH11	ORPHA:2241
HP:0000107	Renal cyst	72	ACTG2	ORPHA:2241
HP:0000107	Renal cyst	4638	MYLK	ORPHA:2241
HP:0000107	Renal cyst	2767	GNA11	ORPHA:1556
HP:0000107	Renal cyst	151188	ARL6IP6	ORPHA:1556
HP:0000107	Renal cyst	139285	AMER1	OMIM:300373
HP:0000107	Renal cyst	403	ARL3	OMIM:618161
HP:0000107	Renal cyst	3978	LIG1	OMIM:619774
HP:0000107	Renal cyst	64359	NXN	ORPHA:1507
HP:0000107	Renal cyst	4920	ROR2	ORPHA:1507
HP:0000107	Renal cyst	27077	B9D1	OMIM:614209
HP:0000107	Renal cyst	27077	B9D1	ORPHA:564
HP:0000107	Renal cyst	8481	OFD1	ORPHA:2750
HP:0000107	Renal cyst	3239	HOXD13	ORPHA:887
HP:0000107	Renal cyst	84314	TMEM107	ORPHA:564
HP:0000107	Renal cyst	79867	TCTN2	ORPHA:564
HP:0000107	Renal cyst	79600	TCTN1	ORPHA:564
HP:0000107	Renal cyst	57096	RPGRIP1	ORPHA:564
HP:0000107	Renal cyst	79770	TXNDC15	ORPHA:564
HP:0000107	Renal cyst	25970	SH2B1	ORPHA:261197
HP:0000107	Renal cyst	9184	BUB3	ORPHA:1052
HP:0000107	Renal cyst	699	BUB1	ORPHA:1052
HP:0000107	Renal cyst	9702	CEP57	ORPHA:1052
HP:0000107	Renal cyst	9319	TRIP13	ORPHA:1052
HP:0000107	Renal cyst	63895	PIEZO2	ORPHA:2461
HP:0000107	Renal cyst	55670	PEX26	ORPHA:912
HP:0000107	Renal cyst	5824	PEX19	ORPHA:912
HP:0000107	Renal cyst	8504	PEX3	ORPHA:912
HP:0000107	Renal cyst	8799	PEX11B	ORPHA:912
HP:0000107	Renal cyst	9409	PEX16	ORPHA:912
HP:0000107	Renal cyst	5830	PEX5	ORPHA:912
HP:0000107	Renal cyst	5193	PEX12	ORPHA:912
HP:0000107	Renal cyst	5195	PEX14	ORPHA:912
HP:0000107	Renal cyst	80000	GREB1L	OMIM:617805
HP:0000107	Renal cyst	2313	FLI1	ORPHA:2308
HP:0000107	Renal cyst	3767	KCNJ11	ORPHA:552
HP:0000107	Renal cyst	8462	KLF11	ORPHA:552
HP:0000107	Renal cyst	2645	GCK	ORPHA:552
HP:0000107	Renal cyst	26060	APPL1	ORPHA:552
HP:0000107	Renal cyst	640	BLK	ORPHA:552
HP:0000107	Renal cyst	1056	CEL	ORPHA:552
HP:0000107	Renal cyst	4760	NEUROD1	ORPHA:552
HP:0000107	Renal cyst	3651	PDX1	ORPHA:552
HP:0000107	Renal cyst	6833	ABCC8	ORPHA:552
HP:0000107	Renal cyst	5078	PAX4	ORPHA:552
HP:0000107	Renal cyst	3172	HNF4A	ORPHA:552
HP:0000107	Renal cyst	6927	HNF1A	ORPHA:552
HP:0000107	Renal cyst	3630	INS	ORPHA:552
HP:0000107	Renal cyst	5076	PAX2	ORPHA:97362
HP:0000107	Renal cyst	5076	PAX2	OMIM:120330
HP:0000107	Renal cyst	5087	PBX1	ORPHA:97362
HP:0000107	Renal cyst	54892	NCAPG2	OMIM:618460
HP:0000107	Renal cyst	100151683	RNU4ATAC	OMIM:210710
HP:0000107	Renal cyst	10806	SDCCAG8	OMIM:615993
HP:0000107	Renal cyst	54585	LZTFL1	OMIM:615994
HP:0000107	Renal cyst	57539	WDR35	OMIM:613610
HP:0000107	Renal cyst	57539	WDR35	ORPHA:93271
HP:0000107	Renal cyst	57539	WDR35	OMIM:614091
HP:0000107	Renal cyst	65062	TMEM237	OMIM:614424
HP:0000107	Renal cyst	51259	TMEM216	OMIM:608091
HP:0000107	Renal cyst	51259	TMEM216	OMIM:603194
HP:0000107	Renal cyst	56623	INPP5E	OMIM:213300
HP:0000107	Renal cyst	81570	CLPB	ORPHA:445038
HP:0000107	Renal cyst	6718	AKR1D1	ORPHA:79303
HP:0000107	Renal cyst	3909	LAMA3	ORPHA:79404
HP:0000107	Renal cyst	3918	LAMC2	ORPHA:79404
HP:0000107	Renal cyst	3914	LAMB3	ORPHA:79404
HP:0000107	Renal cyst	91147	TMEM67	OMIM:216360
HP:0000107	Renal cyst	7707	ZNF148	OMIM:617260
HP:0000107	Renal cyst	79577	CDC73	ORPHA:143
HP:0000107	Renal cyst	79577	CDC73	ORPHA:99880
HP:0000107	Renal cyst	55112	DYNC2I1	ORPHA:93271
HP:0000107	Renal cyst	57560	IFT80	ORPHA:93271
HP:0000107	Renal cyst	79659	DYNC2H1	ORPHA:93271
HP:0000107	Renal cyst	89891	DYNC2I2	ORPHA:93271
HP:0000107	Renal cyst	473	RERE	OMIM:616975
HP:0000107	Renal cyst	473	RERE	ORPHA:1606
HP:0000107	Renal cyst	23322	RPGRIP1L	OMIM:611561
HP:0000107	Renal cyst	23322	RPGRIP1L	OMIM:611560
HP:0000107	Renal cyst	169792	GLIS3	OMIM:610199
HP:0000107	Renal cyst	10847	SRCAP	ORPHA:2044
HP:0000107	Renal cyst	7086	TKT	ORPHA:488618
HP:0000107	Renal cyst	51726	DNAJB11	ORPHA:730
HP:0000107	Renal cyst	23193	GANAB	ORPHA:730
HP:0000107	Renal cyst	5310	PKD1	ORPHA:730
HP:0000107	Renal cyst	9742	IFT140	ORPHA:730
HP:0000107	Renal cyst	9742	IFT140	OMIM:266920
HP:0000107	Renal cyst	79796	ALG9	ORPHA:730
HP:0000107	Renal cyst	80114	BICC1	ORPHA:730
HP:0000107	Renal cyst	23005	MAPKBP1	OMIM:617271
HP:0000107	Renal cyst	6928	HNF1B	OMIM:137920
HP:0000107	Renal cyst	7020	TFAP2A	OMIM:113620
HP:0000107	Renal cyst	1717	DHCR7	OMIM:270400
HP:0000107	Renal cyst	80776	B9D2	OMIM:614175
HP:0000107	Renal cyst	7289	TULP3	OMIM:619902
HP:0000107	Renal cyst	79583	TMEM231	OMIM:614970
HP:0000107	Renal cyst	8195	MKKS	OMIM:605231
HP:0000107	Renal cyst	26040	SETBP1	ORPHA:798
HP:0000107	Renal cyst	2737	GLI3	OMIM:146510
HP:0000107	Renal cyst	6628	SNRPB	OMIM:117650
HP:0000107	Renal cyst	51604	PIGT	OMIM:615398
HP:0000107	Renal cyst	51604	PIGT	ORPHA:369837
HP:0000107	Renal cyst	5314	PKHD1	OMIM:263200
HP:0000107	Renal cyst	57545	CC2D2A	OMIM:612284
HP:0000107	Renal cyst	29927	SEC61A1	OMIM:617056
HP:0000107	Renal cyst	5190	PEX6	OMIM:614862
HP:0000107	Renal cyst	3458	IFNG	OMIM:613254
HP:0000107	Renal cyst	3458	IFNG	ORPHA:805
HP:0000107	Renal cyst	51524	TMEM138	OMIM:614465
HP:0000107	Renal cyst	4519	MT-CYB	ORPHA:137675
HP:0000107	Renal cyst	5828	PEX2	OMIM:614866
HP:0000107	Renal cyst	10283	CWC27	OMIM:250410
HP:0000107	Renal cyst	10283	CWC27	ORPHA:166035
HP:0000107	Renal cyst	5590	PRKCZ	ORPHA:1606
HP:0000107	Renal cyst	2563	GABRD	ORPHA:1606
HP:0000107	Renal cyst	23013	SPEN	ORPHA:1606
HP:0000107	Renal cyst	8510	MMP23B	ORPHA:1606
HP:0000107	Renal cyst	7798	LUZP1	ORPHA:1606
HP:0000107	Renal cyst	6497	SKI	ORPHA:1606
HP:0000107	Renal cyst	10630	PDPN	ORPHA:1606
HP:0000107	Renal cyst	3339	HSPG2	ORPHA:1606
HP:0000107	Renal cyst	10277	UBE4B	ORPHA:1606
HP:0000107	Renal cyst	8514	KCNAB2	ORPHA:1606
HP:0000107	Renal cyst	63976	PRDM16	ORPHA:1606
HP:0000107	Renal cyst	54897	CASZ1	ORPHA:1606
HP:0000107	Renal cyst	55165	CEP55	OMIM:236500
HP:0000107	Renal cyst	1859	DYRK1A	ORPHA:464311
HP:0000107	Renal cyst	5728	PTEN	ORPHA:744
HP:0000107	Renal cyst	207	AKT1	ORPHA:744
HP:0000107	Renal cyst	5189	PEX1	OMIM:601539
HP:0000107	Renal cyst	5192	PEX10	OMIM:614870
HP:0000107	Renal cyst	5075	PAX1	OMIM:615560
HP:0000107	Renal cyst	4437	MSH3	OMIM:617100
HP:0000107	Renal cyst	4437	MSH3	ORPHA:480536
HP:0000107	Renal cyst	9158	FIBP	OMIM:617107
HP:0000107	Renal cyst	4351	MPI	OMIM:602579
HP:0000107	Renal cyst	5889	RAD51C	OMIM:613390
HP:0000107	Renal cyst	57107	PDSS2	ORPHA:255249
HP:0000107	Renal cyst	27235	COQ2	ORPHA:255249
HP:0000107	Renal cyst	153241	CEP120	OMIM:616300
HP:0000107	Renal cyst	79053	ALG8	OMIM:617874
HP:0000107	Renal cyst	54916	TMEM260	OMIM:617478
HP:0000107	Renal cyst	25836	NIPBL	OMIM:122470
HP:0000107	Renal cyst	55005	RMND1	OMIM:614922
HP:0000107	Renal cyst	3295	HSD17B4	OMIM:261515
HP:0000107	Renal cyst	701	BUB1B	OMIM:257300
HP:0000107	Renal cyst	201163	FLCN	OMIM:135150
HP:0000107	Renal cyst	8295	TRRAP	OMIM:618454
HP:0000107	Renal cyst	22827	PUF60	OMIM:615583
HP:0000107	Renal cyst	585	BBS4	OMIM:615982
HP:0000107	Renal cyst	2719	GPC3	OMIM:312870
HP:0000107	Renal cyst	2239	GPC4	OMIM:312870
HP:0000107	Renal cyst	79738	BBS10	OMIM:615987
HP:0000107	Renal cyst	26123	TCTN3	OMIM:614815
HP:0000107	Renal cyst	286204	CRB2	OMIM:219730
HP:0000107	Renal cyst	261734	NPHP4	OMIM:606966
HP:0000107	Renal cyst	51473	DCDC2	ORPHA:84081
HP:0000107	Renal cyst	63929	XPNPEP3	OMIM:613159
HP:0000107	Renal cyst	4582	MUC1	OMIM:174000
HP:0000107	Renal cyst	27031	NPHP3	OMIM:604387
HP:0000107	Renal cyst	4867	NPHP1	OMIM:256100
HP:0000107	Renal cyst	4750	NEK1	OMIM:263520
HP:0000107	Renal cyst	199221	DZIP1L	OMIM:617610
HP:0000107	Renal cyst	199221	DZIP1L	ORPHA:731
HP:0000107	Renal cyst	85358	SHANK3	OMIM:606232
HP:0000107	Renal cyst	157570	ESCO2	ORPHA:3103
HP:0000107	Renal cyst	157570	ESCO2	OMIM:268300
HP:0000107	Renal cyst	9321	TRIP11	OMIM:184260
HP:0000107	Renal cyst	219854	TMEM218	OMIM:619562
HP:0000107	Renal cyst	112752	IFT43	OMIM:617866
HP:0000107	Renal cyst	8260	NAA10	OMIM:300855
HP:0000107	Renal cyst	2625	GATA3	ORPHA:2237
HP:0000107	Renal cyst	23090	ZNF423	OMIM:614844
HP:0000107	Renal cyst	203286	ANKS6	OMIM:615382
HP:0000107	Renal cyst	9652	SKIC3	ORPHA:84064
HP:0000107	Renal cyst	6499	SKIC2	ORPHA:84064
HP:0000107	Renal cyst	57465	TBC1D24	OMIM:220500
HP:0000107	Renal cyst	54903	MKS1	OMIM:249000
HP:0000107	Renal cyst	83700	JAM3	OMIM:613730
HP:0000107	Renal cyst	166379	BBS12	OMIM:615989
HP:0000107	Renal cyst	284086	NEK8	OMIM:615415
HP:0000107	Renal cyst	1376	CPT2	ORPHA:228308
HP:0000107	Renal cyst	79848	CSPP1	ORPHA:397715
HP:0000107	Renal cyst	9786	KIAA0586	ORPHA:397715
HP:0000107	Renal cyst	80184	CEP290	OMIM:610188
HP:0000107	Renal cyst	9526	MPDU1	OMIM:609180
HP:0000107	Renal cyst	9526	MPDU1	ORPHA:79323
HP:0000107	Renal cyst	9091	PIGQ	OMIM:618548
HP:0000107	Renal cyst	10225	CD96	OMIM:211750
HP:0000107	Renal cyst	2108	ETFA	OMIM:231680
HP:0000107	Renal cyst	2109	ETFB	OMIM:231680
HP:0000107	Renal cyst	2110	ETFDH	OMIM:231680
HP:0000107	Renal cyst	1028	CDKN1C	OMIM:130650
HP:0000107	Renal cyst	10984	KCNQ1OT1	OMIM:130650
HP:0000107	Renal cyst	3481	IGF2	OMIM:130650
HP:0000107	Renal cyst	3784	KCNQ1	OMIM:130650
HP:0000107	Renal cyst	27130	INVS	OMIM:602088
HP:0000107	Renal cyst	7428	VHL	ORPHA:892
HP:0000107	Renal cyst	7428	VHL	OMIM:193300
HP:0000107	Renal cyst	595	CCND1	ORPHA:892
HP:0000107	Renal cyst	595	CCND1	OMIM:193300
HP:0000107	Renal cyst	5373	PMM2	ORPHA:79318
HP:0000107	Renal cyst	5311	PKD2	OMIM:613095
HP:0000107	Renal cyst	5194	PEX13	OMIM:614883
HP:0000107	Renal cyst	168667	BMPER	ORPHA:66637
HP:0000107	Renal cyst	1282	COL4A1	ORPHA:73229
HP:0000107	Renal cyst	6804	STX1A	ORPHA:904
HP:0000107	Renal cyst	7461	CLIP2	ORPHA:904
HP:0000107	Renal cyst	84277	DNAJC30	ORPHA:904
HP:0000107	Renal cyst	8468	FKBP6	ORPHA:904
HP:0000107	Renal cyst	5982	RFC2	ORPHA:904
HP:0000107	Renal cyst	2969	GTF2I	ORPHA:904
HP:0000107	Renal cyst	3984	LIMK1	ORPHA:904
HP:0000107	Renal cyst	9569	GTF2IRD1	ORPHA:904
HP:0000107	Renal cyst	155382	VPS37D	ORPHA:904
HP:0000107	Renal cyst	155368	METTL27	ORPHA:904
HP:0000107	Renal cyst	114049	BUD23	ORPHA:904
HP:0000107	Renal cyst	7458	EIF4H	ORPHA:904
HP:0000107	Renal cyst	84163	GTF2IRD2	ORPHA:904
HP:0000107	Renal cyst	9275	BCL7B	ORPHA:904
HP:0000107	Renal cyst	26608	TBL2	ORPHA:904
HP:0000107	Renal cyst	653361	NCF1	ORPHA:904
HP:0000107	Renal cyst	135886	TMEM270	ORPHA:904
HP:0000107	Renal cyst	51085	MLXIPL	ORPHA:904
HP:0000107	Renal cyst	9031	BAZ1B	ORPHA:904
HP:0000107	Renal cyst	2006	ELN	ORPHA:904
HP:0000107	Renal cyst	1312	COMT	ORPHA:567
HP:0000107	Renal cyst	221037	JMJD1C	ORPHA:567
HP:0000107	Renal cyst	2812	GP1BB	ORPHA:567
HP:0000107	Renal cyst	6239	RREB1	ORPHA:567
HP:0000107	Renal cyst	6899	TBX1	ORPHA:567
HP:0000107	Renal cyst	7290	HIRA	ORPHA:567
HP:0000107	Renal cyst	9632	SEC24C	ORPHA:567
HP:0000107	Renal cyst	7353	UFD1	ORPHA:567
HP:0000107	Renal cyst	421	ARVCF	ORPHA:567
HP:0000107	Renal cyst	2317	FLNB	ORPHA:1190
HP:0000107	Renal cyst	6794	STK11	ORPHA:2869
HP:0000107	Renal cyst	11231	SEC63	ORPHA:2924
HP:0000107	Renal cyst	5589	PRKCSH	ORPHA:2924
HP:0000107	Renal cyst	4041	LRP5	ORPHA:2924
HP:0000107	Renal cyst	8449	DHX16	OMIM:618733
HP:0000107	Renal cyst	7248	TSC1	ORPHA:538
HP:0000107	Renal cyst	7249	TSC2	ORPHA:538
HP:0000107	Renal cyst	6299	SALL1	ORPHA:857
HP:0000107	Renal cyst	51339	DACT1	ORPHA:857
HP:0000107	Renal cyst	4853	NOTCH2	ORPHA:955
HP:0000107	Renal cyst	29880	ALG5	OMIM:620056
HP:0000107	Renal cyst	4952	OCRL	ORPHA:534
HP:0000107	Renal cyst	182	JAG1	OMIM:118450
HP:0000107	Renal cyst	1175	AP2S1	OMIM:600740
HP:0000107	Renal cyst	22909	FAN1	OMIM:614817
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4803	NGF	ORPHA:64752
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4914	NTRK1	ORPHA:64752
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4914	NTRK1	OMIM:256800
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	54332	GDAP1	ORPHA:101097
HP:0030693	Supratentorial neoplasm	5925	RB1	OMIM:180200
HP:0030693	Supratentorial neoplasm	65998	ZFTA	ORPHA:251636
HP:0030693	Supratentorial neoplasm	5970	RELA	ORPHA:251636
HP:0033100	Increased proteinogenic amino acid level in urine	444	ASPH	OMIM:601552
HP:0033100	Increased proteinogenic amino acid level in urine	4552	MTRR	OMIM:236270
HP:0033100	Increased proteinogenic amino acid level in urine	4524	MTHFR	OMIM:236250
HP:0033100	Increased proteinogenic amino acid level in urine	4524	MTHFR	ORPHA:395
HP:0033100	Increased proteinogenic amino acid level in urine	55788	LMBRD1	OMIM:277380
HP:0033100	Increased proteinogenic amino acid level in urine	3054	HCFC1	OMIM:309541
HP:0033100	Increased proteinogenic amino acid level in urine	875	CBS	OMIM:236200
HP:0033100	Increased proteinogenic amino acid level in urine	5826	ABCD4	OMIM:614857
HP:0033100	Increased proteinogenic amino acid level in urine	4548	MTR	OMIM:250940
HP:0033100	Increased proteinogenic amino acid level in urine	27249	MMADHC	OMIM:277410
HP:0033100	Increased proteinogenic amino acid level in urine	25974	MMACHC	OMIM:277400
HP:0033100	Increased proteinogenic amino acid level in urine	5052	PRDX1	OMIM:277400
HP:0033100	Increased proteinogenic amino acid level in urine	3034	HAL	OMIM:235800
HP:0033100	Increased proteinogenic amino acid level in urine	3034	HAL	ORPHA:2157
HP:0033100	Increased proteinogenic amino acid level in urine	2731	GLDC	OMIM:605899
HP:0033100	Increased proteinogenic amino acid level in urine	275	AMT	OMIM:605899
HP:0033100	Increased proteinogenic amino acid level in urine	3712	IVD	OMIM:243500
HP:0033100	Increased proteinogenic amino acid level in urine	27247	NFU1	OMIM:605711
HP:0033100	Increased proteinogenic amino acid level in urine	34	ACADM	OMIM:201450
HP:0033100	Increased proteinogenic amino acid level in urine	64087	MCCC2	OMIM:210210
HP:0033100	Increased proteinogenic amino acid level in urine	132158	GLYCTK	ORPHA:941
HP:0033100	Increased proteinogenic amino acid level in urine	5095	PCCA	OMIM:606054
HP:0033100	Increased proteinogenic amino acid level in urine	5096	PCCB	OMIM:606054
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	OMIM:616224
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	ORPHA:163690
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	5495	PPM1B	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	79823	CAMKMT	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	26873	OPLAH	OMIM:260005
HP:0033100	Increased proteinogenic amino acid level in urine	153201	SLC36A2	OMIM:242600
HP:0033100	Increased proteinogenic amino acid level in urine	153201	SLC36A2	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	5625	PRODH	OMIM:239500
HP:0033100	Increased proteinogenic amino acid level in urine	5625	PRODH	ORPHA:419
HP:0033100	Increased proteinogenic amino acid level in urine	348932	SLC6A18	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	54716	SLC6A20	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	340024	SLC6A19	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	8659	ALDH4A1	ORPHA:79101
HP:0033100	Increased proteinogenic amino acid level in urine	8659	ALDH4A1	OMIM:239510
HP:0033100	Increased proteinogenic amino acid level in urine	3000	GUCY2D	OMIM:204000
HP:0033100	Increased proteinogenic amino acid level in urine	9056	SLC7A7	OMIM:222700
HP:0033100	Increased proteinogenic amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033100	Increased proteinogenic amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033100	Increased proteinogenic amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033100	Increased proteinogenic amino acid level in urine	133686	NADK2	OMIM:616034
HP:0033100	Increased proteinogenic amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033100	Increased proteinogenic amino acid level in urine	10157	AASS	OMIM:238700
HP:0033100	Increased proteinogenic amino acid level in urine	10157	AASS	ORPHA:3124
HP:0033100	Increased proteinogenic amino acid level in urine	6999	TDO2	OMIM:600627
HP:0033100	Increased proteinogenic amino acid level in urine	383	ARG1	OMIM:207800
HP:0033100	Increased proteinogenic amino acid level in urine	383	ARG1	ORPHA:90
HP:0033100	Increased proteinogenic amino acid level in urine	57393	CLTRN	ORPHA:2116
HP:0033100	Increased proteinogenic amino acid level in urine	1757	SARDH	ORPHA:3129
HP:0033100	Increased proteinogenic amino acid level in urine	7381	UQCRB	OMIM:615158
HP:0033100	Increased proteinogenic amino acid level in urine	51601	LIPT1	OMIM:616299
HP:0033100	Increased proteinogenic amino acid level in urine	6821	SUOX	OMIM:272300
HP:0033100	Increased proteinogenic amino acid level in urine	6505	SLC1A1	OMIM:222730
HP:0000091	Abnormal renal tubule morphology	56945	MRPS22	OMIM:611719
HP:0000091	Abnormal renal tubule morphology	5373	PMM2	ORPHA:79318
HP:0000091	Abnormal renal tubule morphology	4535	MT-ND1	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4536	MT-ND2	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4537	MT-ND3	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4538	MT-ND4	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4567	MT-TL1	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4578	MT-TW	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4577	MT-TV	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4508	MT-ATP6	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4540	MT-ND5	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4541	MT-ND6	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4566	MT-TK	ORPHA:255210
HP:0000091	Abnormal renal tubule morphology	4868	NPHS1	ORPHA:839
HP:0000091	Abnormal renal tubule morphology	23729	SHPK	ORPHA:440713
HP:0000091	Abnormal renal tubule morphology	56606	SLC2A9	ORPHA:94088
HP:0000091	Abnormal renal tubule morphology	116085	SLC22A12	ORPHA:94088
HP:0000091	Abnormal renal tubule morphology	4952	OCRL	ORPHA:534
HP:0000091	Abnormal renal tubule morphology	2717	GLA	ORPHA:324
HP:0000091	Abnormal renal tubule morphology	25915	NDUFAF3	ORPHA:70474
HP:0000091	Abnormal renal tubule morphology	4714	NDUFB8	ORPHA:70474
HP:0000091	Abnormal renal tubule morphology	4720	NDUFS2	ORPHA:70474
HP:0000091	Abnormal renal tubule morphology	9997	SCO2	ORPHA:70474
HP:0000091	Abnormal renal tubule morphology	6834	SURF1	ORPHA:70474
HP:0000091	Abnormal renal tubule morphology	7369	UMOD	OMIM:162000
HP:0000091	Abnormal renal tubule morphology	23322	RPGRIP1L	OMIM:619113
HP:0000091	Abnormal renal tubule morphology	84662	GLIS2	OMIM:611498
HP:0000091	Abnormal renal tubule morphology	57122	NUP107	OMIM:618348
HP:0000091	Abnormal renal tubule morphology	57122	NUP107	OMIM:616730
HP:0000091	Abnormal renal tubule morphology	55746	NUP133	OMIM:618349
HP:0000091	Abnormal renal tubule morphology	3675	ITGA3	OMIM:614748
HP:0000091	Abnormal renal tubule morphology	26276	VPS33B	OMIM:208085
HP:0000091	Abnormal renal tubule morphology	4643	MYO1E	OMIM:614131
HP:0000091	Abnormal renal tubule morphology	65082	VPS33A	OMIM:617303
HP:0000091	Abnormal renal tubule morphology	6804	STX1A	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	7461	CLIP2	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	84277	DNAJC30	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	8468	FKBP6	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	5982	RFC2	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	2969	GTF2I	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	3984	LIMK1	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	9569	GTF2IRD1	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	155382	VPS37D	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	155368	METTL27	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	114049	BUD23	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	7458	EIF4H	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	84163	GTF2IRD2	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	9275	BCL7B	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	26608	TBL2	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	653361	NCF1	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	135886	TMEM270	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	51085	MLXIPL	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	9031	BAZ1B	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	2006	ELN	ORPHA:904
HP:0000091	Abnormal renal tubule morphology	1497	CTNS	ORPHA:411629
HP:0000091	Abnormal renal tubule morphology	9056	SLC7A7	ORPHA:470
HP:0000091	Abnormal renal tubule morphology	57107	PDSS2	ORPHA:255249
HP:0000091	Abnormal renal tubule morphology	27235	COQ2	ORPHA:255249
HP:0000091	Abnormal renal tubule morphology	10463	SLC30A9	OMIM:617595
HP:0000091	Abnormal renal tubule morphology	11222	MRPL3	OMIM:614582
HP:0000091	Abnormal renal tubule morphology	50943	FOXP3	ORPHA:37042
HP:0000091	Abnormal renal tubule morphology	1801	DPH1	OMIM:616901
HP:0000091	Abnormal renal tubule morphology	1801	DPH1	ORPHA:459061
HP:0000091	Abnormal renal tubule morphology	1376	CPT2	ORPHA:228302
HP:0000091	Abnormal renal tubule morphology	1376	CPT2	ORPHA:228308
HP:0000091	Abnormal renal tubule morphology	2303	FOXC2	ORPHA:33001
HP:0000091	Abnormal renal tubule morphology	26146	TRAF3IP1	OMIM:616629
HP:0000091	Abnormal renal tubule morphology	7840	ALMS1	OMIM:203800
HP:0000091	Abnormal renal tubule morphology	4594	MMUT	OMIM:251000
HP:0000091	Abnormal renal tubule morphology	83480	PUS3	ORPHA:488627
HP:0000091	Abnormal renal tubule morphology	55764	IFT122	OMIM:218330
HP:0000091	Abnormal renal tubule morphology	51134	CEP83	OMIM:615862
HP:0000091	Abnormal renal tubule morphology	4582	MUC1	OMIM:174000
HP:0000091	Abnormal renal tubule morphology	1188	CLCNKB	ORPHA:358
HP:0000091	Abnormal renal tubule morphology	6559	SLC12A3	ORPHA:358
HP:0000091	Abnormal renal tubule morphology	617	BCS1L	OMIM:124000
HP:0000091	Abnormal renal tubule morphology	56244	BTNL2	ORPHA:797
HP:0000091	Abnormal renal tubule morphology	3123	HLA-DRB1	ORPHA:797
HP:0000091	Abnormal renal tubule morphology	22909	FAN1	OMIM:614817
HP:0000091	Abnormal renal tubule morphology	57728	WDR19	OMIM:614376
HP:0000091	Abnormal renal tubule morphology	27130	INVS	OMIM:602088
HP:0000091	Abnormal renal tubule morphology	261734	NPHP4	OMIM:606966
HP:0000091	Abnormal renal tubule morphology	54	ACP5	OMIM:607944
HP:0000091	Abnormal renal tubule morphology	7809	BSND	OMIM:602522
HP:0000091	Abnormal renal tubule morphology	4867	NPHP1	OMIM:266900
HP:0000091	Abnormal renal tubule morphology	4867	NPHP1	OMIM:256100
HP:0000091	Abnormal renal tubule morphology	5972	REN	OMIM:613092
HP:0000091	Abnormal renal tubule morphology	5800	PTPRO	OMIM:614196
HP:0000091	Abnormal renal tubule morphology	5314	PKHD1	OMIM:263200
HP:0000091	Abnormal renal tubule morphology	137682	NDUFAF6	OMIM:618913
HP:0000091	Abnormal renal tubule morphology	2632	GBE1	OMIM:232500
HP:0000091	Abnormal renal tubule morphology	84168	ANTXR1	OMIM:230740
HP:0000091	Abnormal renal tubule morphology	1184	CLCN5	OMIM:310468
HP:0000091	Abnormal renal tubule morphology	27031	NPHP3	OMIM:604387
HP:0000091	Abnormal renal tubule morphology	2542	SLC37A4	ORPHA:79259
HP:0000091	Abnormal renal tubule morphology	63929	XPNPEP3	OMIM:613159
HP:0000091	Abnormal renal tubule morphology	183	AGT	OMIM:267430
HP:0000091	Abnormal renal tubule morphology	185	AGTR1	OMIM:267430
HP:0000091	Abnormal renal tubule morphology	1636	ACE	OMIM:267430
HP:0000091	Abnormal renal tubule morphology	3909	LAMA3	ORPHA:79404
HP:0000091	Abnormal renal tubule morphology	3918	LAMC2	ORPHA:79404
HP:0000091	Abnormal renal tubule morphology	3914	LAMB3	ORPHA:79404
HP:0000091	Abnormal renal tubule morphology	51473	DCDC2	ORPHA:84081
HP:0000091	Abnormal renal tubule morphology	91147	TMEM67	ORPHA:84081
HP:0000091	Abnormal renal tubule morphology	286204	CRB2	OMIM:219730
HP:0000091	Abnormal renal tubule morphology	7289	TULP3	OMIM:619902
HP:0000091	Abnormal renal tubule morphology	254428	SLC41A1	OMIM:619468
HP:0000093	Proteinuria	25970	SH2B1	ORPHA:261222
HP:0000093	Proteinuria	4574	MT-TS1	OMIM:220110
HP:0000093	Proteinuria	4574	MT-TS1	ORPHA:550
HP:0000093	Proteinuria	4570	MT-TN	OMIM:220110
HP:0000093	Proteinuria	6834	SURF1	OMIM:220110
HP:0000093	Proteinuria	2132	EXT2	OMIM:616682
HP:0000093	Proteinuria	8029	CUBN	OMIM:261100
HP:0000093	Proteinuria	8029	CUBN	ORPHA:35858
HP:0000093	Proteinuria	8029	CUBN	OMIM:618884
HP:0000093	Proteinuria	4010	LMX1B	ORPHA:2613
HP:0000093	Proteinuria	4010	LMX1B	ORPHA:2614
HP:0000093	Proteinuria	4010	LMX1B	OMIM:161200
HP:0000093	Proteinuria	4010	LMX1B	OMIM:256020
HP:0000093	Proteinuria	55654	TMEM127	OMIM:171300
HP:0000093	Proteinuria	55654	TMEM127	ORPHA:29072
HP:0000093	Proteinuria	5979	RET	OMIM:171300
HP:0000093	Proteinuria	5979	RET	ORPHA:276621
HP:0000093	Proteinuria	5979	RET	ORPHA:29072
HP:0000093	Proteinuria	6390	SDHB	OMIM:171300
HP:0000093	Proteinuria	6390	SDHB	ORPHA:276621
HP:0000093	Proteinuria	6390	SDHB	ORPHA:29072
HP:0000093	Proteinuria	6392	SDHD	OMIM:171300
HP:0000093	Proteinuria	6392	SDHD	ORPHA:276621
HP:0000093	Proteinuria	6392	SDHD	ORPHA:29072
HP:0000093	Proteinuria	4149	MAX	OMIM:171300
HP:0000093	Proteinuria	4149	MAX	ORPHA:29072
HP:0000093	Proteinuria	7428	VHL	OMIM:171300
HP:0000093	Proteinuria	7428	VHL	ORPHA:276621
HP:0000093	Proteinuria	7428	VHL	ORPHA:29072
HP:0000093	Proteinuria	84334	COA8	ORPHA:436271
HP:0000093	Proteinuria	84942	WDR73	OMIM:251300
HP:0000093	Proteinuria	84942	WDR73	ORPHA:2065
HP:0000093	Proteinuria	4758	NEU1	OMIM:256550
HP:0000093	Proteinuria	2542	SLC37A4	OMIM:232220
HP:0000093	Proteinuria	2542	SLC37A4	OMIM:232240
HP:0000093	Proteinuria	2542	SLC37A4	ORPHA:79259
HP:0000093	Proteinuria	1161	ERCC8	ORPHA:90321
HP:0000093	Proteinuria	1161	ERCC8	OMIM:216400
HP:0000093	Proteinuria	2072	ERCC4	ORPHA:90321
HP:0000093	Proteinuria	2072	ERCC4	OMIM:610965
HP:0000093	Proteinuria	2074	ERCC6	ORPHA:90321
HP:0000093	Proteinuria	2074	ERCC6	OMIM:133540
HP:0000093	Proteinuria	23607	CD2AP	OMIM:607832
HP:0000093	Proteinuria	23607	CD2AP	ORPHA:656
HP:0000093	Proteinuria	396	ARHGDIA	OMIM:615244
HP:0000093	Proteinuria	396	ARHGDIA	ORPHA:656
HP:0000093	Proteinuria	3162	HMOX1	OMIM:614034
HP:0000093	Proteinuria	25959	KANK2	OMIM:617783
HP:0000093	Proteinuria	6595	SMARCA2	ORPHA:2728
HP:0000093	Proteinuria	8526	DGKE	OMIM:615008
HP:0000093	Proteinuria	79693	YRDC	OMIM:619609
HP:0000093	Proteinuria	4868	NPHS1	OMIM:256300
HP:0000093	Proteinuria	4868	NPHS1	ORPHA:839
HP:0000093	Proteinuria	4868	NPHS1	ORPHA:656
HP:0000093	Proteinuria	81693	AMN	ORPHA:35858
HP:0000093	Proteinuria	81693	AMN	OMIM:618882
HP:0000093	Proteinuria	10559	SLC35A1	OMIM:603585
HP:0000093	Proteinuria	7827	NPHS2	OMIM:600995
HP:0000093	Proteinuria	7827	NPHS2	ORPHA:656
HP:0000093	Proteinuria	1777	DNASE2	OMIM:619858
HP:0000093	Proteinuria	2538	G6PC1	OMIM:232200
HP:0000093	Proteinuria	6773	STAT2	OMIM:618886
HP:0000093	Proteinuria	1801	DPH1	OMIM:616901
HP:0000093	Proteinuria	84823	LMNB2	ORPHA:79087
HP:0000093	Proteinuria	84823	LMNB2	OMIM:608709
HP:0000093	Proteinuria	1788	DNMT3A	ORPHA:276621
HP:0000093	Proteinuria	2034	EPAS1	ORPHA:276621
HP:0000093	Proteinuria	83480	PUS3	ORPHA:488627
HP:0000093	Proteinuria	7490	WT1	OMIM:136680
HP:0000093	Proteinuria	7490	WT1	ORPHA:347
HP:0000093	Proteinuria	7490	WT1	ORPHA:220
HP:0000093	Proteinuria	7490	WT1	ORPHA:656
HP:0000093	Proteinuria	63894	VIPAS39	OMIM:613404
HP:0000093	Proteinuria	4036	LRP2	ORPHA:2143
HP:0000093	Proteinuria	4036	LRP2	OMIM:222448
HP:0000093	Proteinuria	950	SCARB2	OMIM:254900
HP:0000093	Proteinuria	950	SCARB2	ORPHA:77259
HP:0000093	Proteinuria	54	ACP5	ORPHA:1855
HP:0000093	Proteinuria	5373	PMM2	OMIM:212065
HP:0000093	Proteinuria	5373	PMM2	ORPHA:79318
HP:0000093	Proteinuria	4069	LYZ	OMIM:105200
HP:0000093	Proteinuria	2243	FGA	OMIM:105200
HP:0000093	Proteinuria	335	APOA1	OMIM:105200
HP:0000093	Proteinuria	567	B2M	OMIM:105200
HP:0000093	Proteinuria	9056	SLC7A7	ORPHA:470
HP:0000093	Proteinuria	5972	REN	OMIM:613092
HP:0000093	Proteinuria	8879	SGPL1	OMIM:617575
HP:0000093	Proteinuria	11277	TREX1	OMIM:192315
HP:0000093	Proteinuria	11277	TREX1	ORPHA:247691
HP:0000093	Proteinuria	1743	DLST	ORPHA:29072
HP:0000093	Proteinuria	4191	MDH2	ORPHA:29072
HP:0000093	Proteinuria	6389	SDHA	ORPHA:29072
HP:0000093	Proteinuria	23095	KIF1B	ORPHA:29072
HP:0000093	Proteinuria	2271	FH	ORPHA:29072
HP:0000093	Proteinuria	8402	SLC25A11	ORPHA:29072
HP:0000093	Proteinuria	54949	SDHAF2	ORPHA:29072
HP:0000093	Proteinuria	4763	NF1	ORPHA:29072
HP:0000093	Proteinuria	6391	SDHC	ORPHA:29072
HP:0000093	Proteinuria	2321	FLT1	ORPHA:275555
HP:0000093	Proteinuria	219736	STOX1	ORPHA:275555
HP:0000093	Proteinuria	10699	CORIN	ORPHA:275555
HP:0000093	Proteinuria	6804	STX1A	ORPHA:904
HP:0000093	Proteinuria	7461	CLIP2	ORPHA:904
HP:0000093	Proteinuria	84277	DNAJC30	ORPHA:904
HP:0000093	Proteinuria	8468	FKBP6	ORPHA:904
HP:0000093	Proteinuria	5982	RFC2	ORPHA:904
HP:0000093	Proteinuria	2969	GTF2I	ORPHA:904
HP:0000093	Proteinuria	3984	LIMK1	ORPHA:904
HP:0000093	Proteinuria	9569	GTF2IRD1	ORPHA:904
HP:0000093	Proteinuria	155382	VPS37D	ORPHA:904
HP:0000093	Proteinuria	155368	METTL27	ORPHA:904
HP:0000093	Proteinuria	114049	BUD23	ORPHA:904
HP:0000093	Proteinuria	7458	EIF4H	ORPHA:904
HP:0000093	Proteinuria	84163	GTF2IRD2	ORPHA:904
HP:0000093	Proteinuria	9275	BCL7B	ORPHA:904
HP:0000093	Proteinuria	26608	TBL2	ORPHA:904
HP:0000093	Proteinuria	653361	NCF1	ORPHA:904
HP:0000093	Proteinuria	135886	TMEM270	ORPHA:904
HP:0000093	Proteinuria	51085	MLXIPL	ORPHA:904
HP:0000093	Proteinuria	9031	BAZ1B	ORPHA:904
HP:0000093	Proteinuria	2006	ELN	ORPHA:904
HP:0000093	Proteinuria	1493	CTLA4	ORPHA:900
HP:0000093	Proteinuria	26191	PTPN22	ORPHA:900
HP:0000093	Proteinuria	3115	HLA-DPB1	ORPHA:900
HP:0000093	Proteinuria	5657	PRTN3	ORPHA:900
HP:0000093	Proteinuria	3113	HLA-DPA1	ORPHA:900
HP:0000093	Proteinuria	3675	ITGA3	OMIM:614748
HP:0000093	Proteinuria	4567	MT-TL1	ORPHA:225
HP:0000093	Proteinuria	4567	MT-TL1	ORPHA:550
HP:0000093	Proteinuria	4556	MT-TE	ORPHA:225
HP:0000093	Proteinuria	4566	MT-TK	ORPHA:225
HP:0000093	Proteinuria	4210	MEFV	ORPHA:342
HP:0000093	Proteinuria	4210	MEFV	OMIM:134610
HP:0000093	Proteinuria	3931	LCAT	OMIM:245900
HP:0000093	Proteinuria	4094	MAF	ORPHA:1272
HP:0000093	Proteinuria	2934	GSN	ORPHA:85448
HP:0000093	Proteinuria	3913	LAMB2	OMIM:614199
HP:0000093	Proteinuria	3913	LAMB2	OMIM:609049
HP:0000093	Proteinuria	5800	PTPRO	OMIM:614196
HP:0000093	Proteinuria	5800	PTPRO	ORPHA:656
HP:0000093	Proteinuria	6288	SAA1	ORPHA:85445
HP:0000093	Proteinuria	8481	OFD1	OMIM:311200
HP:0000093	Proteinuria	8481	OFD1	ORPHA:2750
HP:0000093	Proteinuria	10253	SPRY2	OMIM:616818
HP:0000093	Proteinuria	540	ATP7B	OMIM:277900
HP:0000093	Proteinuria	4846	NOS3	OMIM:189800
HP:0000093	Proteinuria	2717	GLA	OMIM:301500
HP:0000093	Proteinuria	2717	GLA	ORPHA:324
HP:0000093	Proteinuria	3172	HNF4A	OMIM:616026
HP:0000093	Proteinuria	3172	HNF4A	ORPHA:263455
HP:0000093	Proteinuria	25836	NIPBL	OMIM:122470
HP:0000093	Proteinuria	2303	FOXC2	ORPHA:33001
HP:0000093	Proteinuria	5836	PYGL	ORPHA:369
HP:0000093	Proteinuria	51196	PLCE1	OMIM:610725
HP:0000093	Proteinuria	51196	PLCE1	ORPHA:656
HP:0000093	Proteinuria	2629	GBA1	ORPHA:77261
HP:0000093	Proteinuria	2629	GBA1	ORPHA:77259
HP:0000093	Proteinuria	54443	ANLN	OMIM:616032
HP:0000093	Proteinuria	54443	ANLN	ORPHA:656
HP:0000093	Proteinuria	51004	COQ6	OMIM:614650
HP:0000093	Proteinuria	7535	ZAP70	OMIM:617006
HP:0000093	Proteinuria	81603	TRIM8	OMIM:619428
HP:0000093	Proteinuria	1188	CLCNKB	ORPHA:358
HP:0000093	Proteinuria	6559	SLC12A3	ORPHA:358
HP:0000093	Proteinuria	1288	COL4A6	ORPHA:1018
HP:0000093	Proteinuria	1287	COL4A5	ORPHA:1018
HP:0000093	Proteinuria	1287	COL4A5	OMIM:301050
HP:0000093	Proteinuria	4558	MT-TF	ORPHA:550
HP:0000093	Proteinuria	4572	MT-TQ	ORPHA:550
HP:0000093	Proteinuria	4512	MT-CO1	ORPHA:550
HP:0000093	Proteinuria	4513	MT-CO2	ORPHA:550
HP:0000093	Proteinuria	4514	MT-CO3	ORPHA:550
HP:0000093	Proteinuria	4578	MT-TW	ORPHA:550
HP:0000093	Proteinuria	4540	MT-ND5	ORPHA:550
HP:0000093	Proteinuria	4541	MT-ND6	ORPHA:550
HP:0000093	Proteinuria	4535	MT-ND1	ORPHA:550
HP:0000093	Proteinuria	4538	MT-ND4	ORPHA:550
HP:0000093	Proteinuria	4575	MT-TS2	ORPHA:550
HP:0000093	Proteinuria	4564	MT-TH	ORPHA:550
HP:0000093	Proteinuria	5087	PBX1	ORPHA:97362
HP:0000093	Proteinuria	10785	WDR4	OMIM:618347
HP:0000093	Proteinuria	10785	WDR4	ORPHA:2065
HP:0000093	Proteinuria	57122	NUP107	OMIM:618348
HP:0000093	Proteinuria	57122	NUP107	OMIM:616730
HP:0000093	Proteinuria	57122	NUP107	ORPHA:656
HP:0000093	Proteinuria	57122	NUP107	ORPHA:2065
HP:0000093	Proteinuria	55746	NUP133	OMIM:618349
HP:0000093	Proteinuria	55746	NUP133	ORPHA:656
HP:0000093	Proteinuria	55746	NUP133	OMIM:618177
HP:0000093	Proteinuria	55746	NUP133	ORPHA:2065
HP:0000093	Proteinuria	4179	CD46	OMIM:612922
HP:0000093	Proteinuria	4179	CD46	ORPHA:244242
HP:0000093	Proteinuria	6775	STAT4	ORPHA:93552
HP:0000093	Proteinuria	6696	SPP1	ORPHA:93552
HP:0000093	Proteinuria	3654	IRAK1	ORPHA:93552
HP:0000093	Proteinuria	629	CFB	OMIM:612924
HP:0000093	Proteinuria	3426	CFI	OMIM:612923
HP:0000093	Proteinuria	3426	CFI	ORPHA:244242
HP:0000093	Proteinuria	1776	DNASE1L3	ORPHA:36412
HP:0000093	Proteinuria	7056	THBD	OMIM:612926
HP:0000093	Proteinuria	718	C3	OMIM:612925
HP:0000093	Proteinuria	55243	KIRREL1	OMIM:619201
HP:0000093	Proteinuria	6514	SLC2A2	OMIM:227810
HP:0000093	Proteinuria	9342	SNAP29	ORPHA:66631
HP:0000093	Proteinuria	11093	ADAMTS13	OMIM:274150
HP:0000093	Proteinuria	5625	PRODH	ORPHA:419
HP:0000093	Proteinuria	9688	NUP93	ORPHA:656
HP:0000093	Proteinuria	4643	MYO1E	ORPHA:656
HP:0000093	Proteinuria	4643	MYO1E	OMIM:614131
HP:0000093	Proteinuria	64423	INF2	ORPHA:656
HP:0000093	Proteinuria	64423	INF2	OMIM:613237
HP:0000093	Proteinuria	64423	INF2	OMIM:614455
HP:0000093	Proteinuria	26130	GAPVD1	ORPHA:656
HP:0000093	Proteinuria	51479	ANKFY1	ORPHA:656
HP:0000093	Proteinuria	286204	CRB2	ORPHA:656
HP:0000093	Proteinuria	23165	NUP205	ORPHA:656
HP:0000093	Proteinuria	2013	EMP2	ORPHA:656
HP:0000093	Proteinuria	79023	NUP37	ORPHA:656
HP:0000093	Proteinuria	79902	NUP85	ORPHA:656
HP:0000093	Proteinuria	79902	NUP85	OMIM:618176
HP:0000093	Proteinuria	1285	COL4A3	ORPHA:656
HP:0000093	Proteinuria	1285	COL4A3	OMIM:203780
HP:0000093	Proteinuria	1285	COL4A3	OMIM:104200
HP:0000093	Proteinuria	79934	COQ8B	ORPHA:656
HP:0000093	Proteinuria	79934	COQ8B	OMIM:615573
HP:0000093	Proteinuria	23279	NUP160	ORPHA:656
HP:0000093	Proteinuria	23279	NUP160	OMIM:618178
HP:0000093	Proteinuria	9863	MAGI2	ORPHA:656
HP:0000093	Proteinuria	9863	MAGI2	OMIM:617609
HP:0000093	Proteinuria	81	ACTN4	ORPHA:656
HP:0000093	Proteinuria	81	ACTN4	OMIM:603278
HP:0000093	Proteinuria	7225	TRPC6	ORPHA:656
HP:0000093	Proteinuria	7225	TRPC6	OMIM:603965
HP:0000093	Proteinuria	8542	APOL1	ORPHA:656
HP:0000093	Proteinuria	54885	TBC1D8B	ORPHA:656
HP:0000093	Proteinuria	54885	TBC1D8B	OMIM:301028
HP:0000093	Proteinuria	83478	ARHGAP24	ORPHA:656
HP:0000093	Proteinuria	23500	DAAM2	ORPHA:656
HP:0000093	Proteinuria	9663	LPIN2	ORPHA:77297
HP:0000093	Proteinuria	6928	HNF1B	OMIM:137920
HP:0000093	Proteinuria	5277	PIGA	ORPHA:447
HP:0000093	Proteinuria	55644	OSGEP	OMIM:617729
HP:0000093	Proteinuria	55644	OSGEP	ORPHA:2065
HP:0000093	Proteinuria	27031	NPHP3	OMIM:604387
HP:0000093	Proteinuria	26160	IFT172	OMIM:619471
HP:0000093	Proteinuria	112858	TP53RK	OMIM:617730
HP:0000093	Proteinuria	112858	TP53RK	ORPHA:2065
HP:0000093	Proteinuria	8270	LAGE3	OMIM:301006
HP:0000093	Proteinuria	8270	LAGE3	ORPHA:2065
HP:0000093	Proteinuria	1286	COL4A4	OMIM:203780
HP:0000093	Proteinuria	51002	TPRKB	OMIM:617731
HP:0000093	Proteinuria	51002	TPRKB	ORPHA:2065
HP:0000093	Proteinuria	2335	FN1	ORPHA:84090
HP:0000093	Proteinuria	2335	FN1	OMIM:601894
HP:0000093	Proteinuria	9935	MAFB	ORPHA:2774
HP:0000093	Proteinuria	9935	MAFB	OMIM:166300
HP:0000093	Proteinuria	23630	KCNE5	ORPHA:86818
HP:0000093	Proteinuria	2182	ACSL4	ORPHA:86818
HP:0000093	Proteinuria	9949	AMMECR1	ORPHA:86818
HP:0000093	Proteinuria	100147744	RNU7-1	OMIM:619487
HP:0000093	Proteinuria	10651	MTX2	OMIM:619127
HP:0000093	Proteinuria	3075	CFH	ORPHA:244242
HP:0000093	Proteinuria	101101692	HELLPAR	ORPHA:244242
HP:0000093	Proteinuria	2625	GATA3	OMIM:146255
HP:0000093	Proteinuria	353	APRT	ORPHA:976
HP:0000093	Proteinuria	55898	UNC45A	OMIM:619377
HP:0000093	Proteinuria	348	APOE	OMIM:611771
HP:0000093	Proteinuria	4853	NOTCH2	OMIM:610205
HP:0000093	Proteinuria	8516	ITGA8	OMIM:191830
HP:0000093	Proteinuria	9051	PSTPIP1	ORPHA:69126
HP:0000093	Proteinuria	4627	MYH9	ORPHA:182050
HP:0000093	Proteinuria	54938	SARS2	OMIM:613845
HP:0000093	Proteinuria	26276	VPS33B	OMIM:620010
HP:0000093	Proteinuria	25974	MMACHC	OMIM:277400
HP:0000093	Proteinuria	5052	PRDX1	OMIM:277400
HP:0000093	Proteinuria	22909	FAN1	OMIM:614817
HP:0000093	Proteinuria	1497	CTNS	OMIM:219800
HP:0000093	Proteinuria	1497	CTNS	ORPHA:411634
HP:0000093	Proteinuria	1497	CTNS	ORPHA:411629
HP:0000093	Proteinuria	4952	OCRL	OMIM:300555
HP:0000093	Proteinuria	4952	OCRL	OMIM:309000
HP:0000093	Proteinuria	1184	CLCN5	OMIM:300554
HP:0000093	Proteinuria	1184	CLCN5	OMIM:300009
HP:0000093	Proteinuria	1184	CLCN5	OMIM:310468
HP:0000093	Proteinuria	1184	CLCN5	OMIM:308990
HP:0000093	Proteinuria	2628	GATM	OMIM:134600
HP:0000093	Proteinuria	2628	GATM	ORPHA:3337
HP:0000093	Proteinuria	1962	EHHADH	OMIM:615605
HP:0000093	Proteinuria	1962	EHHADH	ORPHA:3337
HP:0000093	Proteinuria	137682	NDUFAF6	ORPHA:3337
HP:0000093	Proteinuria	6569	SLC34A1	ORPHA:3337
HP:0000093	Proteinuria	50485	SMARCAL1	ORPHA:1830
HP:0000093	Proteinuria	975	CD81	OMIM:613496
HP:0000093	Proteinuria	1650	DDOST	ORPHA:300536
HP:0000093	Proteinuria	9722	NOS1AP	OMIM:619155
HP:0000093	Proteinuria	57728	WDR19	OMIM:614377
HP:0000093	Proteinuria	55610	VPS50	OMIM:619685
HP:0000093	Proteinuria	3735	KARS1	OMIM:619147
HP:0000093	Proteinuria	56606	SLC2A9	ORPHA:94088
HP:0000093	Proteinuria	116085	SLC22A12	ORPHA:94088
HP:0000093	Proteinuria	5076	PAX2	OMIM:120330
HP:0000093	Proteinuria	65082	VPS33A	ORPHA:505248
HP:0000093	Proteinuria	57107	PDSS2	ORPHA:255249
HP:0000093	Proteinuria	27235	COQ2	ORPHA:255249
HP:0000095	Abnormal renal glomerulus morphology	54345	SOX18	OMIM:137940
HP:0000095	Abnormal renal glomerulus morphology	8518	ELP1	OMIM:223900
HP:0000095	Abnormal renal glomerulus morphology	100147744	RNU7-1	OMIM:619487
HP:0000095	Abnormal renal glomerulus morphology	9722	NOS1AP	OMIM:619155
HP:0000095	Abnormal renal glomerulus morphology	5339	PLEC	ORPHA:158684
HP:0000095	Abnormal renal glomerulus morphology	3691	ITGB4	ORPHA:158684
HP:0000095	Abnormal renal glomerulus morphology	7428	VHL	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	7428	VHL	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	1743	DLST	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	4191	MDH2	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	5979	RET	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	5979	RET	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	6389	SDHA	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	23095	KIF1B	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	2271	FH	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	8402	SLC25A11	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	54949	SDHAF2	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	55654	TMEM127	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	4763	NF1	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	6391	SDHC	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	6392	SDHD	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	6392	SDHD	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	6390	SDHB	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	6390	SDHB	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	4149	MAX	ORPHA:29072
HP:0000095	Abnormal renal glomerulus morphology	4582	MUC1	OMIM:174000
HP:0000095	Abnormal renal glomerulus morphology	1788	DNMT3A	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	2034	EPAS1	ORPHA:276621
HP:0000095	Abnormal renal glomerulus morphology	2184	FAH	OMIM:276700
HP:0000095	Abnormal renal glomerulus morphology	4558	MT-TF	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4572	MT-TQ	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4512	MT-CO1	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4513	MT-CO2	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4514	MT-CO3	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4578	MT-TW	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4540	MT-ND5	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4541	MT-ND6	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4535	MT-ND1	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4538	MT-ND4	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4567	MT-TL1	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4574	MT-TS1	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4575	MT-TS2	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	4564	MT-TH	ORPHA:550
HP:0000095	Abnormal renal glomerulus morphology	5972	REN	OMIM:613092
HP:0000095	Abnormal renal glomerulus morphology	8270	LAGE3	OMIM:301006
HP:0000095	Abnormal renal glomerulus morphology	29927	SEC61A1	OMIM:617056
HP:0000095	Abnormal renal glomerulus morphology	51002	TPRKB	OMIM:617731
HP:0000095	Abnormal renal glomerulus morphology	10785	WDR4	OMIM:618347
HP:0000095	Abnormal renal glomerulus morphology	3675	ITGA3	OMIM:614748
HP:0000095	Abnormal renal glomerulus morphology	1184	CLCN5	OMIM:308990
HP:0000095	Abnormal renal glomerulus morphology	2542	SLC37A4	OMIM:232220
HP:0000095	Abnormal renal glomerulus morphology	2542	SLC37A4	OMIM:232240
HP:0000095	Abnormal renal glomerulus morphology	55243	KIRREL1	OMIM:619201
HP:0000095	Abnormal renal glomerulus morphology	10651	MTX2	OMIM:619127
HP:0000095	Abnormal renal glomerulus morphology	50485	SMARCAL1	ORPHA:1830
HP:0000095	Abnormal renal glomerulus morphology	50485	SMARCAL1	OMIM:242900
HP:0000095	Abnormal renal glomerulus morphology	65082	VPS33A	OMIM:617303
HP:0000095	Abnormal renal glomerulus morphology	182	JAG1	OMIM:118450
HP:0000095	Abnormal renal glomerulus morphology	27235	COQ2	OMIM:607426
HP:0000095	Abnormal renal glomerulus morphology	2538	G6PC1	OMIM:232200
HP:0000095	Abnormal renal glomerulus morphology	3911	LAMA5	OMIM:620049
HP:0000095	Abnormal renal glomerulus morphology	79731	NARS2	OMIM:616239
HP:0000095	Abnormal renal glomerulus morphology	950	SCARB2	OMIM:254900
HP:0000095	Abnormal renal glomerulus morphology	1188	CLCNKB	ORPHA:358
HP:0000095	Abnormal renal glomerulus morphology	6559	SLC12A3	ORPHA:358
HP:0000095	Abnormal renal glomerulus morphology	7840	ALMS1	ORPHA:64
HP:0000095	Abnormal renal glomerulus morphology	9056	SLC7A7	ORPHA:470
HP:0000095	Abnormal renal glomerulus morphology	355	FAS	ORPHA:3261
HP:0000095	Abnormal renal glomerulus morphology	356	FASLG	ORPHA:3261
HP:0000095	Abnormal renal glomerulus morphology	5580	PRKCD	ORPHA:3261
HP:0000095	Abnormal renal glomerulus morphology	843	CASP10	ORPHA:3261
HP:0000095	Abnormal renal glomerulus morphology	10125	RASGRP1	ORPHA:3261
HP:0000095	Abnormal renal glomerulus morphology	720	C4A	OMIM:614380
HP:0000095	Abnormal renal glomerulus morphology	8651	SOCS1	OMIM:619375
HP:0000095	Abnormal renal glomerulus morphology	3426	CFI	OMIM:610984
HP:0000095	Abnormal renal glomerulus morphology	50943	FOXP3	OMIM:304790
HP:0000095	Abnormal renal glomerulus morphology	81494	CFHR5	OMIM:614809
HP:0000095	Abnormal renal glomerulus morphology	4010	LMX1B	OMIM:161200
HP:0000095	Abnormal renal glomerulus morphology	4312	MMP1	ORPHA:79408
HP:0000095	Abnormal renal glomerulus morphology	1294	COL7A1	ORPHA:79408
HP:0000095	Abnormal renal glomerulus morphology	4311	MME	ORPHA:69063
HP:0000095	Abnormal renal glomerulus morphology	81603	TRIM8	OMIM:619428
HP:0000095	Abnormal renal glomerulus morphology	6557	SLC12A1	OMIM:601678
HP:0000095	Abnormal renal glomerulus morphology	3758	KCNJ1	OMIM:241200
HP:0000095	Abnormal renal glomerulus morphology	57169	ZNFX1	OMIM:619644
HP:0000095	Abnormal renal glomerulus morphology	1777	DNASE2	OMIM:619858
HP:0000095	Abnormal renal glomerulus morphology	712	C1QA	OMIM:613652
HP:0000095	Abnormal renal glomerulus morphology	5238	PGM3	ORPHA:443811
HP:0000095	Abnormal renal glomerulus morphology	5238	PGM3	OMIM:615816
HP:0000095	Abnormal renal glomerulus morphology	718	C3	OMIM:613779
HP:0000095	Abnormal renal glomerulus morphology	2335	FN1	ORPHA:84090
HP:0000095	Abnormal renal glomerulus morphology	112858	TP53RK	OMIM:617730
HP:0000095	Abnormal renal glomerulus morphology	396	ARHGDIA	OMIM:615244
HP:0000095	Abnormal renal glomerulus morphology	396	ARHGDIA	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	8879	SGPL1	OMIM:617575
HP:0000095	Abnormal renal glomerulus morphology	51004	COQ6	OMIM:614650
HP:0000095	Abnormal renal glomerulus morphology	9688	NUP93	OMIM:616892
HP:0000095	Abnormal renal glomerulus morphology	9688	NUP93	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	10677	AVIL	OMIM:618594
HP:0000095	Abnormal renal glomerulus morphology	100	ADA	OMIM:102700
HP:0000095	Abnormal renal glomerulus morphology	57122	NUP107	OMIM:616730
HP:0000095	Abnormal renal glomerulus morphology	57122	NUP107	OMIM:618348
HP:0000095	Abnormal renal glomerulus morphology	57122	NUP107	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	84520	GON7	OMIM:619603
HP:0000095	Abnormal renal glomerulus morphology	7490	WT1	OMIM:256370
HP:0000095	Abnormal renal glomerulus morphology	7490	WT1	OMIM:194080
HP:0000095	Abnormal renal glomerulus morphology	7490	WT1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	84942	WDR73	OMIM:251300
HP:0000095	Abnormal renal glomerulus morphology	55644	OSGEP	OMIM:617729
HP:0000095	Abnormal renal glomerulus morphology	3913	LAMB2	OMIM:609049
HP:0000095	Abnormal renal glomerulus morphology	51196	PLCE1	OMIM:610725
HP:0000095	Abnormal renal glomerulus morphology	51196	PLCE1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	79693	YRDC	OMIM:619609
HP:0000095	Abnormal renal glomerulus morphology	4868	NPHS1	OMIM:256300
HP:0000095	Abnormal renal glomerulus morphology	4868	NPHS1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	23607	CD2AP	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	4643	MYO1E	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	64423	INF2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	26130	GAPVD1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	51479	ANKFY1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	54443	ANLN	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	5800	PTPRO	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	286204	CRB2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	23165	NUP205	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	2013	EMP2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	79023	NUP37	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	79902	NUP85	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	1285	COL4A3	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	79934	COQ8B	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	23279	NUP160	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	9863	MAGI2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	81	ACTN4	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	7225	TRPC6	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	8542	APOL1	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	54885	TBC1D8B	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	7827	NPHS2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	83478	ARHGAP24	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	23500	DAAM2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	5076	PAX2	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	55746	NUP133	ORPHA:656
HP:0000095	Abnormal renal glomerulus morphology	3075	CFH	OMIM:609814
HP:0000095	Abnormal renal glomerulus morphology	2625	GATA3	OMIM:146255
HP:0000095	Abnormal renal glomerulus morphology	51134	CEP83	OMIM:615862
HP:0000095	Abnormal renal glomerulus morphology	8526	DGKE	OMIM:615008
HP:0000095	Abnormal renal glomerulus morphology	1287	COL4A5	OMIM:301050
HP:0000095	Abnormal renal glomerulus morphology	977	CD151	OMIM:609057
HP:0000095	Abnormal renal glomerulus morphology	7809	BSND	OMIM:602522
HP:0000095	Abnormal renal glomerulus morphology	8260	NAA10	OMIM:300855
HP:0000095	Abnormal renal glomerulus morphology	1314	COPA	OMIM:616414
HP:0000095	Abnormal renal glomerulus morphology	10253	SPRY2	OMIM:616818
HP:0000095	Abnormal renal glomerulus morphology	1286	COL4A4	OMIM:141200
HP:0000095	Abnormal renal glomerulus morphology	3716	JAK1	OMIM:618999
HP:0000095	Abnormal renal glomerulus morphology	25959	KANK2	OMIM:617783
HP:0000095	Abnormal renal glomerulus morphology	7535	ZAP70	OMIM:617006
HP:0000095	Abnormal renal glomerulus morphology	975	CD81	OMIM:613496
HP:0000095	Abnormal renal glomerulus morphology	57728	WDR19	OMIM:614377
HP:0000095	Abnormal renal glomerulus morphology	57728	WDR19	OMIM:616307
HP:0000095	Abnormal renal glomerulus morphology	2212	FCGR2A	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	2213	FCGR2B	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	26191	PTPN22	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	11277	TREX1	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	1493	CTLA4	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	1773	DNASE1	OMIM:152700
HP:0000095	Abnormal renal glomerulus morphology	1776	DNASE1L3	OMIM:614420
HP:0000095	Abnormal renal glomerulus morphology	4536	MT-ND2	ORPHA:255210
HP:0000095	Abnormal renal glomerulus morphology	4537	MT-ND3	ORPHA:255210
HP:0000095	Abnormal renal glomerulus morphology	4577	MT-TV	ORPHA:255210
HP:0000095	Abnormal renal glomerulus morphology	4508	MT-ATP6	ORPHA:255210
HP:0000095	Abnormal renal glomerulus morphology	27031	NPHP3	OMIM:267010
HP:0000095	Abnormal renal glomerulus morphology	93649	MYOCD	OMIM:618719
HP:0000095	Abnormal renal glomerulus morphology	9663	LPIN2	ORPHA:77297
HP:0000095	Abnormal renal glomerulus morphology	348	APOE	OMIM:611771
HP:0000095	Abnormal renal glomerulus morphology	25974	MMACHC	ORPHA:79282
HP:0000095	Abnormal renal glomerulus morphology	7454	WAS	ORPHA:906
HP:0000095	Abnormal renal glomerulus morphology	7456	WIPF1	ORPHA:906
HP:0000095	Abnormal renal glomerulus morphology	84823	LMNB2	ORPHA:79087
HP:0000095	Abnormal renal glomerulus morphology	3115	HLA-DPB1	ORPHA:900
HP:0000095	Abnormal renal glomerulus morphology	5657	PRTN3	ORPHA:900
HP:0000095	Abnormal renal glomerulus morphology	3113	HLA-DPA1	ORPHA:900
HP:0000095	Abnormal renal glomerulus morphology	2303	FOXC2	ORPHA:33001
HP:0000095	Abnormal renal glomerulus morphology	6928	HNF1B	ORPHA:93111
HP:0000095	Abnormal renal glomerulus morphology	2717	GLA	ORPHA:324
HP:0000095	Abnormal renal glomerulus morphology	4556	MT-TE	ORPHA:225
HP:0000095	Abnormal renal glomerulus morphology	4566	MT-TK	ORPHA:225
HP:0000095	Abnormal renal glomerulus morphology	23630	KCNE5	ORPHA:86818
HP:0000095	Abnormal renal glomerulus morphology	2182	ACSL4	ORPHA:86818
HP:0000095	Abnormal renal glomerulus morphology	9949	AMMECR1	ORPHA:86818
HP:0000095	Abnormal renal glomerulus morphology	4552	MTRR	ORPHA:2169
HP:0000095	Abnormal renal glomerulus morphology	4952	OCRL	ORPHA:534
HP:0000095	Abnormal renal glomerulus morphology	149233	IL23R	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	6775	STAT4	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	3586	IL10	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	4210	MEFV	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	1230	CCR1	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	3592	IL12A	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	3106	HLA-B	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	7099	TLR4	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	3459	IFNGR1	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	337867	UBAC2	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	51752	ERAP1	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	8302	KLRC4	ORPHA:117
HP:0000095	Abnormal renal glomerulus morphology	4000	LMNA	ORPHA:2348
HP:0000096	Glomerular sclerosis	8518	ELP1	OMIM:223900
HP:0000096	Glomerular sclerosis	11277	TREX1	ORPHA:247691
HP:0000096	Glomerular sclerosis	100147744	RNU7-1	OMIM:619487
HP:0000096	Glomerular sclerosis	9722	NOS1AP	OMIM:619155
HP:0000096	Glomerular sclerosis	5339	PLEC	ORPHA:158684
HP:0000096	Glomerular sclerosis	3691	ITGB4	ORPHA:158684
HP:0000096	Glomerular sclerosis	57728	WDR19	OMIM:614377
HP:0000096	Glomerular sclerosis	7428	VHL	ORPHA:29072
HP:0000096	Glomerular sclerosis	7428	VHL	ORPHA:276621
HP:0000096	Glomerular sclerosis	1743	DLST	ORPHA:29072
HP:0000096	Glomerular sclerosis	4191	MDH2	ORPHA:29072
HP:0000096	Glomerular sclerosis	5979	RET	ORPHA:29072
HP:0000096	Glomerular sclerosis	5979	RET	ORPHA:276621
HP:0000096	Glomerular sclerosis	6389	SDHA	ORPHA:29072
HP:0000096	Glomerular sclerosis	23095	KIF1B	ORPHA:29072
HP:0000096	Glomerular sclerosis	2271	FH	ORPHA:29072
HP:0000096	Glomerular sclerosis	8402	SLC25A11	ORPHA:29072
HP:0000096	Glomerular sclerosis	54949	SDHAF2	ORPHA:29072
HP:0000096	Glomerular sclerosis	55654	TMEM127	ORPHA:29072
HP:0000096	Glomerular sclerosis	4763	NF1	ORPHA:29072
HP:0000096	Glomerular sclerosis	6391	SDHC	ORPHA:29072
HP:0000096	Glomerular sclerosis	6392	SDHD	ORPHA:29072
HP:0000096	Glomerular sclerosis	6392	SDHD	ORPHA:276621
HP:0000096	Glomerular sclerosis	6390	SDHB	ORPHA:29072
HP:0000096	Glomerular sclerosis	6390	SDHB	ORPHA:276621
HP:0000096	Glomerular sclerosis	4149	MAX	ORPHA:29072
HP:0000096	Glomerular sclerosis	4582	MUC1	OMIM:174000
HP:0000096	Glomerular sclerosis	81603	TRIM8	OMIM:619428
HP:0000096	Glomerular sclerosis	1788	DNMT3A	ORPHA:276621
HP:0000096	Glomerular sclerosis	2034	EPAS1	ORPHA:276621
HP:0000096	Glomerular sclerosis	2184	FAH	OMIM:276700
HP:0000096	Glomerular sclerosis	55644	OSGEP	OMIM:617729
HP:0000096	Glomerular sclerosis	7225	TRPC6	OMIM:603965
HP:0000096	Glomerular sclerosis	7225	TRPC6	ORPHA:656
HP:0000096	Glomerular sclerosis	4558	MT-TF	ORPHA:550
HP:0000096	Glomerular sclerosis	4572	MT-TQ	ORPHA:550
HP:0000096	Glomerular sclerosis	4512	MT-CO1	ORPHA:550
HP:0000096	Glomerular sclerosis	4513	MT-CO2	ORPHA:550
HP:0000096	Glomerular sclerosis	4514	MT-CO3	ORPHA:550
HP:0000096	Glomerular sclerosis	4578	MT-TW	ORPHA:550
HP:0000096	Glomerular sclerosis	4540	MT-ND5	ORPHA:550
HP:0000096	Glomerular sclerosis	4541	MT-ND6	ORPHA:550
HP:0000096	Glomerular sclerosis	4535	MT-ND1	ORPHA:550
HP:0000096	Glomerular sclerosis	4538	MT-ND4	ORPHA:550
HP:0000096	Glomerular sclerosis	4567	MT-TL1	ORPHA:550
HP:0000096	Glomerular sclerosis	4574	MT-TS1	ORPHA:550
HP:0000096	Glomerular sclerosis	4575	MT-TS2	ORPHA:550
HP:0000096	Glomerular sclerosis	4564	MT-TH	ORPHA:550
HP:0000096	Glomerular sclerosis	5972	REN	OMIM:613092
HP:0000096	Glomerular sclerosis	112858	TP53RK	OMIM:617730
HP:0000096	Glomerular sclerosis	8879	SGPL1	OMIM:617575
HP:0000096	Glomerular sclerosis	8270	LAGE3	OMIM:301006
HP:0000096	Glomerular sclerosis	5076	PAX2	OMIM:616002
HP:0000096	Glomerular sclerosis	5076	PAX2	ORPHA:656
HP:0000096	Glomerular sclerosis	29927	SEC61A1	OMIM:617056
HP:0000096	Glomerular sclerosis	51002	TPRKB	OMIM:617731
HP:0000096	Glomerular sclerosis	10785	WDR4	OMIM:618347
HP:0000096	Glomerular sclerosis	57122	NUP107	OMIM:618348
HP:0000096	Glomerular sclerosis	57122	NUP107	OMIM:616730
HP:0000096	Glomerular sclerosis	57122	NUP107	ORPHA:656
HP:0000096	Glomerular sclerosis	55746	NUP133	OMIM:618349
HP:0000096	Glomerular sclerosis	55746	NUP133	ORPHA:656
HP:0000096	Glomerular sclerosis	55746	NUP133	OMIM:618177
HP:0000096	Glomerular sclerosis	84942	WDR73	OMIM:251300
HP:0000096	Glomerular sclerosis	3675	ITGA3	OMIM:614748
HP:0000096	Glomerular sclerosis	1184	CLCN5	OMIM:308990
HP:0000096	Glomerular sclerosis	7490	WT1	ORPHA:347
HP:0000096	Glomerular sclerosis	7490	WT1	ORPHA:656
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:256370
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:194080
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:136680
HP:0000096	Glomerular sclerosis	2542	SLC37A4	OMIM:232220
HP:0000096	Glomerular sclerosis	2542	SLC37A4	OMIM:232240
HP:0000096	Glomerular sclerosis	81	ACTN4	OMIM:603278
HP:0000096	Glomerular sclerosis	81	ACTN4	ORPHA:656
HP:0000096	Glomerular sclerosis	23607	CD2AP	OMIM:607832
HP:0000096	Glomerular sclerosis	23607	CD2AP	ORPHA:656
HP:0000096	Glomerular sclerosis	55243	KIRREL1	OMIM:619201
HP:0000096	Glomerular sclerosis	10651	MTX2	OMIM:619127
HP:0000096	Glomerular sclerosis	23165	NUP205	OMIM:616893
HP:0000096	Glomerular sclerosis	23165	NUP205	ORPHA:656
HP:0000096	Glomerular sclerosis	9688	NUP93	OMIM:616892
HP:0000096	Glomerular sclerosis	9688	NUP93	ORPHA:656
HP:0000096	Glomerular sclerosis	5800	PTPRO	OMIM:614196
HP:0000096	Glomerular sclerosis	5800	PTPRO	ORPHA:656
HP:0000096	Glomerular sclerosis	50485	SMARCAL1	ORPHA:1830
HP:0000096	Glomerular sclerosis	50485	SMARCAL1	OMIM:242900
HP:0000096	Glomerular sclerosis	65082	VPS33A	OMIM:617303
HP:0000096	Glomerular sclerosis	182	JAG1	OMIM:118450
HP:0000096	Glomerular sclerosis	84520	GON7	OMIM:619603
HP:0000096	Glomerular sclerosis	4010	LMX1B	OMIM:256020
HP:0000096	Glomerular sclerosis	4868	NPHS1	ORPHA:656
HP:0000096	Glomerular sclerosis	4643	MYO1E	ORPHA:656
HP:0000096	Glomerular sclerosis	4643	MYO1E	OMIM:614131
HP:0000096	Glomerular sclerosis	64423	INF2	ORPHA:656
HP:0000096	Glomerular sclerosis	64423	INF2	OMIM:613237
HP:0000096	Glomerular sclerosis	64423	INF2	OMIM:614455
HP:0000096	Glomerular sclerosis	26130	GAPVD1	ORPHA:656
HP:0000096	Glomerular sclerosis	51479	ANKFY1	ORPHA:656
HP:0000096	Glomerular sclerosis	54443	ANLN	ORPHA:656
HP:0000096	Glomerular sclerosis	54443	ANLN	OMIM:616032
HP:0000096	Glomerular sclerosis	286204	CRB2	ORPHA:656
HP:0000096	Glomerular sclerosis	286204	CRB2	OMIM:616220
HP:0000096	Glomerular sclerosis	2013	EMP2	ORPHA:656
HP:0000096	Glomerular sclerosis	79023	NUP37	ORPHA:656
HP:0000096	Glomerular sclerosis	51196	PLCE1	ORPHA:656
HP:0000096	Glomerular sclerosis	51196	PLCE1	OMIM:610725
HP:0000096	Glomerular sclerosis	79902	NUP85	ORPHA:656
HP:0000096	Glomerular sclerosis	79902	NUP85	OMIM:618176
HP:0000096	Glomerular sclerosis	1285	COL4A3	ORPHA:656
HP:0000096	Glomerular sclerosis	396	ARHGDIA	ORPHA:656
HP:0000096	Glomerular sclerosis	79934	COQ8B	ORPHA:656
HP:0000096	Glomerular sclerosis	79934	COQ8B	OMIM:615573
HP:0000096	Glomerular sclerosis	23279	NUP160	ORPHA:656
HP:0000096	Glomerular sclerosis	23279	NUP160	OMIM:618178
HP:0000096	Glomerular sclerosis	9863	MAGI2	ORPHA:656
HP:0000096	Glomerular sclerosis	8542	APOL1	ORPHA:656
HP:0000096	Glomerular sclerosis	8542	APOL1	OMIM:612551
HP:0000096	Glomerular sclerosis	54885	TBC1D8B	ORPHA:656
HP:0000096	Glomerular sclerosis	54885	TBC1D8B	OMIM:301028
HP:0000096	Glomerular sclerosis	7827	NPHS2	ORPHA:656
HP:0000096	Glomerular sclerosis	7827	NPHS2	OMIM:600995
HP:0000096	Glomerular sclerosis	83478	ARHGAP24	ORPHA:656
HP:0000096	Glomerular sclerosis	23500	DAAM2	ORPHA:656
HP:0000096	Glomerular sclerosis	23500	DAAM2	OMIM:619263
HP:0000096	Glomerular sclerosis	27235	COQ2	OMIM:607426
HP:0000096	Glomerular sclerosis	2538	G6PC1	OMIM:232200
HP:0000096	Glomerular sclerosis	3911	LAMA5	OMIM:620049
HP:0000096	Glomerular sclerosis	51004	COQ6	OMIM:614650
HP:0000096	Glomerular sclerosis	79731	NARS2	OMIM:616239
HP:0000096	Glomerular sclerosis	950	SCARB2	OMIM:254900
HP:0000096	Glomerular sclerosis	1188	CLCNKB	ORPHA:358
HP:0000096	Glomerular sclerosis	6559	SLC12A3	ORPHA:358
HP:0000096	Glomerular sclerosis	7809	BSND	OMIM:602522
HP:0000096	Glomerular sclerosis	8260	NAA10	OMIM:300855
HP:0000099	Glomerulonephritis	7840	ALMS1	ORPHA:64
HP:0000099	Glomerulonephritis	9056	SLC7A7	ORPHA:470
HP:0000099	Glomerulonephritis	355	FAS	ORPHA:3261
HP:0000099	Glomerulonephritis	356	FASLG	ORPHA:3261
HP:0000099	Glomerulonephritis	5580	PRKCD	ORPHA:3261
HP:0000099	Glomerulonephritis	843	CASP10	ORPHA:3261
HP:0000099	Glomerulonephritis	10125	RASGRP1	ORPHA:3261
HP:0000099	Glomerulonephritis	720	C4A	OMIM:614380
HP:0000099	Glomerulonephritis	8651	SOCS1	OMIM:619375
HP:0000099	Glomerulonephritis	975	CD81	OMIM:613496
HP:0000099	Glomerulonephritis	3426	CFI	OMIM:610984
HP:0000099	Glomerulonephritis	1285	COL4A3	OMIM:104200
HP:0000099	Glomerulonephritis	50943	FOXP3	OMIM:304790
HP:0000099	Glomerulonephritis	81494	CFHR5	OMIM:614809
HP:0000099	Glomerulonephritis	4010	LMX1B	OMIM:161200
HP:0000099	Glomerulonephritis	4312	MMP1	ORPHA:79408
HP:0000099	Glomerulonephritis	1294	COL7A1	ORPHA:79408
HP:0000099	Glomerulonephritis	4311	MME	ORPHA:69063
HP:0000099	Glomerulonephritis	57728	WDR19	OMIM:614376
HP:0000099	Glomerulonephritis	81603	TRIM8	OMIM:619428
HP:0000099	Glomerulonephritis	54345	SOX18	OMIM:137940
HP:0000099	Glomerulonephritis	57169	ZNFX1	OMIM:619644
HP:0000099	Glomerulonephritis	84823	LMNB2	OMIM:608709
HP:0000099	Glomerulonephritis	1777	DNASE2	OMIM:619858
HP:0000099	Glomerulonephritis	712	C1QA	OMIM:613652
HP:0000099	Glomerulonephritis	5238	PGM3	ORPHA:443811
HP:0000099	Glomerulonephritis	5238	PGM3	OMIM:615816
HP:0000099	Glomerulonephritis	2542	SLC37A4	OMIM:619525
HP:0000099	Glomerulonephritis	8526	DGKE	OMIM:615008
HP:0000099	Glomerulonephritis	718	C3	OMIM:613779
HP:0000099	Glomerulonephritis	1314	COPA	OMIM:616414
HP:0000099	Glomerulonephritis	3716	JAK1	OMIM:618999
HP:0000099	Glomerulonephritis	55243	KIRREL1	OMIM:619201
HP:0000099	Glomerulonephritis	8270	LAGE3	OMIM:301006
HP:0000099	Glomerulonephritis	25959	KANK2	OMIM:617783
HP:0000099	Glomerulonephritis	5800	PTPRO	OMIM:614196
HP:0000099	Glomerulonephritis	5800	PTPRO	ORPHA:656
HP:0000099	Glomerulonephritis	50485	SMARCAL1	ORPHA:1830
HP:0000099	Glomerulonephritis	2013	EMP2	OMIM:615861
HP:0000099	Glomerulonephritis	2013	EMP2	ORPHA:656
HP:0000099	Glomerulonephritis	7535	ZAP70	OMIM:617006
HP:0000099	Glomerulonephritis	57122	NUP107	OMIM:616730
HP:0000099	Glomerulonephritis	57122	NUP107	OMIM:618348
HP:0000099	Glomerulonephritis	57122	NUP107	ORPHA:656
HP:0000099	Glomerulonephritis	9863	MAGI2	OMIM:617609
HP:0000099	Glomerulonephritis	9863	MAGI2	ORPHA:656
HP:0000099	Glomerulonephritis	4868	NPHS1	ORPHA:656
HP:0000099	Glomerulonephritis	23607	CD2AP	ORPHA:656
HP:0000099	Glomerulonephritis	9688	NUP93	ORPHA:656
HP:0000099	Glomerulonephritis	4643	MYO1E	ORPHA:656
HP:0000099	Glomerulonephritis	64423	INF2	ORPHA:656
HP:0000099	Glomerulonephritis	26130	GAPVD1	ORPHA:656
HP:0000099	Glomerulonephritis	7490	WT1	ORPHA:656
HP:0000099	Glomerulonephritis	51479	ANKFY1	ORPHA:656
HP:0000099	Glomerulonephritis	54443	ANLN	ORPHA:656
HP:0000099	Glomerulonephritis	286204	CRB2	ORPHA:656
HP:0000099	Glomerulonephritis	23165	NUP205	ORPHA:656
HP:0000099	Glomerulonephritis	79023	NUP37	ORPHA:656
HP:0000099	Glomerulonephritis	51196	PLCE1	ORPHA:656
HP:0000099	Glomerulonephritis	79902	NUP85	ORPHA:656
HP:0000099	Glomerulonephritis	396	ARHGDIA	ORPHA:656
HP:0000099	Glomerulonephritis	79934	COQ8B	ORPHA:656
HP:0000099	Glomerulonephritis	23279	NUP160	ORPHA:656
HP:0000099	Glomerulonephritis	81	ACTN4	ORPHA:656
HP:0000099	Glomerulonephritis	7225	TRPC6	ORPHA:656
HP:0000099	Glomerulonephritis	8542	APOL1	ORPHA:656
HP:0000099	Glomerulonephritis	54885	TBC1D8B	ORPHA:656
HP:0000099	Glomerulonephritis	7827	NPHS2	ORPHA:656
HP:0000099	Glomerulonephritis	83478	ARHGAP24	ORPHA:656
HP:0000099	Glomerulonephritis	23500	DAAM2	ORPHA:656
HP:0000099	Glomerulonephritis	5076	PAX2	ORPHA:656
HP:0000099	Glomerulonephritis	55746	NUP133	ORPHA:656
HP:0000099	Glomerulonephritis	2212	FCGR2A	OMIM:152700
HP:0000099	Glomerulonephritis	2213	FCGR2B	OMIM:152700
HP:0000099	Glomerulonephritis	26191	PTPN22	OMIM:152700
HP:0000099	Glomerulonephritis	11277	TREX1	OMIM:152700
HP:0000099	Glomerulonephritis	1493	CTLA4	OMIM:152700
HP:0000099	Glomerulonephritis	1773	DNASE1	OMIM:152700
HP:0000099	Glomerulonephritis	1776	DNASE1L3	OMIM:614420
HP:0007258	Severe demyelination of the white matter	54872	PIGG	ORPHA:488635
HP:0007258	Severe demyelination of the white matter	25974	MMACHC	ORPHA:79282
HP:0007258	Severe demyelination of the white matter	5631	PRPS1	ORPHA:1187
HP:0007258	Severe demyelination of the white matter	29920	PYCR2	ORPHA:481152
HP:0007258	Severe demyelination of the white matter	93587	TRMT10A	ORPHA:391408
HP:0007258	Severe demyelination of the white matter	84919	PPP1R15B	ORPHA:391408
HP:0007258	Severe demyelination of the white matter	79944	L2HGDH	OMIM:236792
HP:0033102	Monkey wrench femoral neck	64131	XYLT1	OMIM:615777
HP:0033102	Monkey wrench femoral neck	124583	CANT1	OMIM:617719
HP:0033102	Monkey wrench femoral neck	124583	CANT1	OMIM:251450
HP:0033102	Monkey wrench femoral neck	55790	CSGALNACT1	OMIM:618870
HP:0033105	Interhypothalamic adhesion	1000	CDH2	OMIM:618929
HP:0033104	Inappropriate absence of fever	3570	IL6R	OMIM:618944
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2731	GLDC	OMIM:605899
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	275	AMT	OMIM:605899
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8802	SUCLG1	OMIM:245400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	100303755	PET117	OMIM:619063
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27247	NFU1	OMIM:605711
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1351	COX8A	OMIM:619059
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9054	NFS1	OMIM:619386
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	200205	IBA57	OMIM:615330
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55532	SLC30A10	ORPHA:309854
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	388962	BOLA3	OMIM:614299
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51218	GLRX5	OMIM:616859
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	326625	MMAB	OMIM:251110
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4594	MMUT	OMIM:251000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	166785	MMAA	OMIM:251100
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5095	PCCA	OMIM:606054
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5096	PCCB	OMIM:606054
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4552	MTRR	OMIM:236270
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4552	MTRR	ORPHA:2169
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4524	MTHFR	OMIM:236250
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4524	MTHFR	ORPHA:395
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6573	SLC19A1	OMIM:601775
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4522	MTHFD1	OMIM:617780
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55788	LMBRD1	OMIM:277380
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55788	LMBRD1	ORPHA:79284
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	25974	MMACHC	ORPHA:79282
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	25974	MMACHC	OMIM:277400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3054	HCFC1	OMIM:309541
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51293	CD320	OMIM:613646
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5826	ABCD4	OMIM:614857
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4548	MTR	OMIM:250940
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27249	MMADHC	OMIM:277410
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5052	PRDX1	OMIM:277400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	84693	MCEE	OMIM:251120
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	133686	NADK2	ORPHA:431361
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	133686	NADK2	OMIM:616034
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5009	OTC	OMIM:311250
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2744	GLS	OMIM:618412
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3242	HPD	OMIM:276710
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3242	HPD	OMIM:140350
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6898	TAT	OMIM:276600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	617	BCS1L	OMIM:124000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	191	AHCY	OMIM:613752
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	191	AHCY	ORPHA:88618
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	132	ADK	OMIM:614300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	875	CBS	OMIM:236200
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4143	MAT1A	OMIM:250850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2184	FAH	OMIM:276700
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27232	GNMT	OMIM:606664
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9652	SKIC3	OMIM:222470
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	7019	TFAM	OMIM:617156
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3000	GUCY2D	OMIM:204000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	56922	MCCC1	ORPHA:6
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8942	KYNU	ORPHA:79155
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5805	PTS	OMIM:261640
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5860	QDPR	OMIM:261630
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	435	ASL	ORPHA:23
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	435	ASL	OMIM:207900
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1373	CPS1	ORPHA:147
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1373	CPS1	OMIM:237300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	445	ASS1	OMIM:215700
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3664	IRF6	ORPHA:1300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2643	GCH1	ORPHA:98808
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2643	GCH1	OMIM:128230
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4929	NR4A2	ORPHA:98808
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3615	IMPDH2	ORPHA:98808
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5092	PCBD1	OMIM:264070
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6697	SPR	OMIM:612716
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1629	DBT	OMIM:248600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	593	BCKDHA	OMIM:248600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	594	BCKDHB	OMIM:248600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9377	COX5A	OMIM:619064
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	OMIM:600850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	OMIM:239500
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	ORPHA:419
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51241	COX16	OMIM:619355
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51601	LIPT1	OMIM:616299
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1352	COX10	OMIM:619046
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	763	CA5A	OMIM:615751
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	54704	PDP1	ORPHA:79246
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	80222	TARS2	OMIM:615918
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10295	BCKDK	OMIM:614923
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1757	SARDH	ORPHA:3129
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1757	SARDH	OMIM:268900
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6888	TALDO1	ORPHA:101028
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10841	FTCD	ORPHA:51208
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	131669	UROC1	ORPHA:210128
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3034	HAL	OMIM:235800
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3034	HAL	ORPHA:2157
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10367	MICU1	OMIM:615673
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	64087	MCCC2	OMIM:210210
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	152926	PPM1K	OMIM:615135
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1738	DLD	ORPHA:2394
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	587	BCAT2	OMIM:618850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	506	ATP5F1B	OMIM:620085
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55163	PNPO	ORPHA:79096
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	29968	PSAT1	OMIM:610992
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	26227	PHGDH	ORPHA:79351
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5723	PSPH	ORPHA:79350
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5723	PSPH	OMIM:614023
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5053	PAH	OMIM:261600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6999	TDO2	OMIM:600627
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2752	GLUL	OMIM:610015
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4190	MDH1	OMIM:618959
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	162417	NAGS	OMIM:237310
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10157	AASS	ORPHA:3124
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4780	NFE2L2	OMIM:617744
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10243	GPHN	OMIM:615501
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	383	ARG1	OMIM:207800
HP:0033106	Elevated circulating D-dimer concentration	6773	STAT2	OMIM:618886
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	763	CA5A	OMIM:615751
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5009	OTC	OMIM:311250
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4535	MT-ND1	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4536	MT-ND2	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4537	MT-ND3	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4538	MT-ND4	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4567	MT-TL1	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4578	MT-TW	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4577	MT-TV	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4540	MT-ND5	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4541	MT-ND6	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4566	MT-TK	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	29960	MRM2	OMIM:618567
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	1373	CPS1	OMIM:237300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5105	PCK1	OMIM:261680
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247585
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	OMIM:603471
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	445	ASS1	OMIM:215700
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4942	OAT	OMIM:258870
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4942	OAT	ORPHA:414
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10166	SLC25A15	ORPHA:415
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10166	SLC25A15	OMIM:238970
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	29958	DMGDH	OMIM:605850
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	51733	UPB1	OMIM:613161
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	132	ADK	OMIM:614300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	54532	USP53	OMIM:619658
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	7915	ALDH5A1	OMIM:271980
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4353	MPO	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4846	NOS3	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	3077	HFE	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	351	APP	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5328	PLAU	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10157	AASS	ORPHA:2203
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1491	CTH	ORPHA:212
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55788	LMBRD1	OMIM:277380
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4524	MTHFR	ORPHA:395
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	25974	MMACHC	OMIM:277400
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5052	PRDX1	OMIM:277400
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9056	SLC7A7	ORPHA:470
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5091	PC	OMIM:266150
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51241	COX16	OMIM:619355
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55768	NGLY1	OMIM:615273
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	26235	FBXL4	OMIM:615471
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54914	FOCAD	OMIM:619991
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	498	ATP5F1A	OMIM:616045
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	498	ATP5F1A	OMIM:620358
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	11222	MRPL3	OMIM:614582
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	763	CA5A	OMIM:615751
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	10059	DNM1L	OMIM:614388
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	25821	MTO1	OMIM:614702
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	90624	LYRM7	OMIM:615838
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	8659	ALDH4A1	ORPHA:79101
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	57176	VARS2	OMIM:615917
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	2203	FBP1	ORPHA:348
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	80222	TARS2	OMIM:615918
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4535	MT-ND1	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4536	MT-ND2	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4537	MT-ND3	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4538	MT-ND4	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4567	MT-TL1	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4578	MT-TW	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4577	MT-TV	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4508	MT-ATP6	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4540	MT-ND5	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4541	MT-ND6	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4566	MT-TK	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4716	NDUFB10	OMIM:619003
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	6341	SCO1	OMIM:619048
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	7385	UQCRC2	OMIM:615160
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5160	PDHA1	OMIM:312170
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1352	COX10	OMIM:619046
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	387787	LIPT2	OMIM:617668
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1841	DTYMK	OMIM:619847
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4285	MIPEP	OMIM:617228
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54931	TRMT10C	OMIM:616974
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5428	POLG	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1890	TYMP	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	3980	LIG3	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	50484	RRM2B	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1340	COX6B1	OMIM:619051
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	90161	HS6ST2	OMIM:301025
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4718	NDUFC2	OMIM:619170
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1351	COX8A	OMIM:619059
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51116	MRPS2	OMIM:617950
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	125988	MICOS13	OMIM:618329
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4724	NDUFS4	OMIM:252010
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	162417	NAGS	ORPHA:927
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51079	NDUFA13	OMIM:618249
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	291	SLC25A4	OMIM:615418
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54704	PDP1	ORPHA:79246
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9377	COX5A	OMIM:619064
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55863	TMEM126B	OMIM:618250
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54968	TMEM70	OMIM:614052
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	3735	KARS1	OMIM:619147
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	63931	MRPS14	OMIM:618378
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9054	NFS1	OMIM:619386
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	57017	COQ9	OMIM:614654
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	84947	SERAC1	OMIM:614739
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	8050	PDHX	ORPHA:255182
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	10165	SLC25A13	ORPHA:247598
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	443	ASPA	OMIM:271900
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1629	DBT	OMIM:248600
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	593	BCKDHA	OMIM:248600
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	594	BCKDHB	OMIM:248600
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	2593	GAMT	OMIM:612736
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	6323	SCN1A	OMIM:619317
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3778	KCNMA1	OMIM:609446
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3778	KCNMA1	ORPHA:79137
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	114327	EFHC1	OMIM:607631
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	2566	GABRG2	OMIM:607681
HP:0007262	Symmetric peripheral demyelination	2639	GCDH	OMIM:231670
HP:0007262	Symmetric peripheral demyelination	4001	LMNB1	OMIM:169500
HP:0007263	Spinocerebellar atrophy	10908	PNPLA6	OMIM:215470
HP:0007263	Spinocerebellar atrophy	5190	PEX6	ORPHA:95433
HP:0007263	Spinocerebellar atrophy	6310	ATXN1	OMIM:164400
HP:0007269	Spinal muscular atrophy	427	ASAH1	OMIM:159950
HP:0007269	Spinal muscular atrophy	59341	TRPV4	OMIM:600175
HP:0007269	Spinal muscular atrophy	10280	SIGMAR1	OMIM:605726
HP:0007269	Spinal muscular atrophy	23299	BICD2	OMIM:615290
HP:0007269	Spinal muscular atrophy	11340	EXOSC8	OMIM:616081
HP:0007269	Spinal muscular atrophy	7084	TK2	ORPHA:254875
HP:0007269	Spinal muscular atrophy	1778	DYNC1H1	OMIM:158600
HP:0007269	Spinal muscular atrophy	3300	DNAJB2	OMIM:614881
HP:0007269	Spinal muscular atrophy	81545	FBXO38	OMIM:615575
HP:0007269	Spinal muscular atrophy	7317	UBA1	ORPHA:1145
HP:0007269	Spinal muscular atrophy	7317	UBA1	OMIM:301830
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:271150
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253300
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253400
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253550
HP:0007269	Spinal muscular atrophy	51008	ASCC1	OMIM:616867
HP:0007269	Spinal muscular atrophy	9325	TRIP4	OMIM:616866
HP:0007269	Spinal muscular atrophy	6607	SMN2	OMIM:253400
HP:0007269	Spinal muscular atrophy	9217	VAPB	OMIM:182980
HP:0007269	Spinal muscular atrophy	538	ATP7A	OMIM:300489
HP:0007269	Spinal muscular atrophy	6905	TBCE	ORPHA:496756
HP:0007269	Spinal muscular atrophy	6905	TBCE	OMIM:617207
HP:0007269	Spinal muscular atrophy	51305	KCNK9	ORPHA:166108
HP:0007269	Spinal muscular atrophy	57449	PLEKHG5	OMIM:611067
HP:0007269	Spinal muscular atrophy	22880	MORC2	ORPHA:466768
HP:0007269	Spinal muscular atrophy	400916	CHCHD10	OMIM:615048
HP:0007269	Spinal muscular atrophy	7443	VRK1	OMIM:607596
HP:0007269	Spinal muscular atrophy	3508	IGHMBP2	OMIM:604320
HP:0033111	3-hydroxyisovaleric aciduria	763	CA5A	OMIM:615751
HP:0033111	3-hydroxyisovaleric aciduria	3141	HLCS	OMIM:253270
HP:0033111	3-hydroxyisovaleric aciduria	56922	MCCC1	OMIM:210200
HP:0033113	Gallop rhythm	7092	TLL1	ORPHA:99106
HP:0033113	Gallop rhythm	4625	MYH7	OMIM:255160
HP:0033118	Abnormal right ventricular function	4920	ROR2	OMIM:268310
HP:0033118	Abnormal right ventricular function	7474	WNT5A	OMIM:180700
HP:0033118	Abnormal right ventricular function	1855	DVL1	OMIM:180700
HP:0033118	Abnormal right ventricular function	7092	TLL1	ORPHA:99103
HP:0033118	Abnormal right ventricular function	57057	TBX20	ORPHA:99103
HP:0033118	Abnormal right ventricular function	4624	MYH6	ORPHA:99103
HP:0033118	Abnormal right ventricular function	1482	NKX2-5	ORPHA:99103
HP:0033118	Abnormal right ventricular function	70	ACTC1	ORPHA:99103
HP:0033118	Abnormal right ventricular function	10370	CITED2	ORPHA:99103
HP:0033118	Abnormal right ventricular function	2626	GATA4	ORPHA:99103
HP:0033118	Abnormal right ventricular function	2627	GATA6	ORPHA:99103
HP:0033118	Abnormal right ventricular function	57190	SELENON	ORPHA:324604
HP:0033118	Abnormal right ventricular function	4625	MYH7	ORPHA:324604
HP:0033118	Abnormal right ventricular function	7273	TTN	ORPHA:324604
HP:0033118	Abnormal right ventricular function	79572	ATP13A3	OMIM:265400
HP:0033118	Abnormal right ventricular function	1616	DAXX	ORPHA:100075
HP:0033118	Abnormal right ventricular function	546	ATRX	ORPHA:100075
HP:0033118	Abnormal right ventricular function	440275	EIF2AK4	ORPHA:199241
HP:0033118	Abnormal right ventricular function	10568	SLC34A2	ORPHA:60025
HP:0033118	Abnormal right ventricular function	659	BMPR2	OMIM:178600
HP:0033118	Abnormal right ventricular function	6392	SDHD	ORPHA:100093
HP:0033117	Duodenitis	6868	ADAM17	OMIM:614328
HP:0033117	Duodenitis	10526	IPO8	OMIM:619472
HP:0033117	Duodenitis	22900	CARD8	OMIM:619079
HP:0007270	Atypical absence seizure	57526	PCDH19	ORPHA:101039
HP:0007270	Atypical absence seizure	57526	PCDH19	ORPHA:33069
HP:0007270	Atypical absence seizure	7337	UBE3A	ORPHA:98795
HP:0007270	Atypical absence seizure	3192	HNRNPU	OMIM:617391
HP:0007270	Atypical absence seizure	6324	SCN1B	OMIM:617350
HP:0007270	Atypical absence seizure	6324	SCN1B	ORPHA:33069
HP:0007270	Atypical absence seizure	1173	AP2M1	OMIM:618587
HP:0007270	Atypical absence seizure	2562	GABRB3	OMIM:617113
HP:0007270	Atypical absence seizure	2562	GABRB3	ORPHA:2382
HP:0007270	Atypical absence seizure	343450	KCNT2	OMIM:617771
HP:0007270	Atypical absence seizure	5530	PPP3CA	OMIM:617711
HP:0007270	Atypical absence seizure	1759	DNM1	OMIM:616346
HP:0007270	Atypical absence seizure	1759	DNM1	ORPHA:2382
HP:0007270	Atypical absence seizure	23334	SZT2	OMIM:615476
HP:0007270	Atypical absence seizure	785	CACNB4	OMIM:613855
HP:0007270	Atypical absence seizure	785	CACNB4	OMIM:607682
HP:0007270	Atypical absence seizure	81570	CLPB	OMIM:619835
HP:0007270	Atypical absence seizure	23732	FRRS1L	ORPHA:725
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:725
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:1945
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:98818
HP:0007270	Atypical absence seizure	5048	PAFAH1B1	ORPHA:95232
HP:0007270	Atypical absence seizure	27286	SRPX2	ORPHA:1945
HP:0007270	Atypical absence seizure	2566	GABRG2	ORPHA:1945
HP:0007270	Atypical absence seizure	2566	GABRG2	ORPHA:33069
HP:0007270	Atypical absence seizure	2566	GABRG2	OMIM:618396
HP:0007270	Atypical absence seizure	6335	SCN9A	ORPHA:33069
HP:0007270	Atypical absence seizure	6326	SCN2A	ORPHA:33069
HP:0007270	Atypical absence seizure	2554	GABRA1	ORPHA:33069
HP:0007270	Atypical absence seizure	6323	SCN1A	ORPHA:33069
HP:0007270	Atypical absence seizure	6323	SCN1A	ORPHA:2382
HP:0007270	Atypical absence seizure	378884	NHLRC1	ORPHA:501
HP:0007270	Atypical absence seizure	7957	EPM2A	ORPHA:501
HP:0007270	Atypical absence seizure	9839	ZEB2	ORPHA:261537
HP:0007270	Atypical absence seizure	9839	ZEB2	ORPHA:261552
HP:0007270	Atypical absence seizure	3778	KCNMA1	OMIM:618596
HP:0007270	Atypical absence seizure	5602	MAPK10	ORPHA:2382
HP:0007270	Atypical absence seizure	773	CACNA1A	ORPHA:2382
HP:0007270	Atypical absence seizure	23316	CUX2	ORPHA:2382
HP:0007270	Atypical absence seizure	1106	CHD2	ORPHA:2382
HP:0007270	Atypical absence seizure	387119	CEP85L	OMIM:618873
HP:0007270	Atypical absence seizure	3745	KCNB1	OMIM:616056
HP:0007270	Atypical absence seizure	81603	TRIM8	OMIM:619428
HP:0007271	Occipital myelomeningocele	56623	INPP5E	OMIM:213300
HP:0007271	Occipital myelomeningocele	1312	COMT	ORPHA:567
HP:0007271	Occipital myelomeningocele	221037	JMJD1C	ORPHA:567
HP:0007271	Occipital myelomeningocele	2812	GP1BB	ORPHA:567
HP:0007271	Occipital myelomeningocele	6239	RREB1	ORPHA:567
HP:0007271	Occipital myelomeningocele	6899	TBX1	ORPHA:567
HP:0007271	Occipital myelomeningocele	7290	HIRA	ORPHA:567
HP:0007271	Occipital myelomeningocele	9632	SEC24C	ORPHA:567
HP:0007271	Occipital myelomeningocele	7353	UFD1	ORPHA:567
HP:0007271	Occipital myelomeningocele	421	ARVCF	ORPHA:567
HP:0000609	Optic nerve hypoplasia	50801	KCNK4	OMIM:618381
HP:0000609	Optic nerve hypoplasia	22827	PUF60	ORPHA:508498
HP:0000609	Optic nerve hypoplasia	22827	PUF60	ORPHA:508488
HP:0000609	Optic nerve hypoplasia	22827	PUF60	OMIM:615583
HP:0000609	Optic nerve hypoplasia	2077	ERF	OMIM:600775
HP:0000609	Optic nerve hypoplasia	7025	NR2F1	ORPHA:401777
HP:0000609	Optic nerve hypoplasia	23126	POGZ	OMIM:616364
HP:0000609	Optic nerve hypoplasia	23259	DDHD2	OMIM:615033
HP:0000609	Optic nerve hypoplasia	7737	RNF113A	OMIM:300953
HP:0000609	Optic nerve hypoplasia	8022	LHX3	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	220	ALDH1A3	OMIM:615113
HP:0000609	Optic nerve hypoplasia	8573	CASK	OMIM:300749
HP:0000609	Optic nerve hypoplasia	8573	CASK	ORPHA:163937
HP:0000609	Optic nerve hypoplasia	775	CACNA1C	OMIM:620029
HP:0000609	Optic nerve hypoplasia	84282	RNF135	ORPHA:137634
HP:0000609	Optic nerve hypoplasia	6334	SCN8A	OMIM:614306
HP:0000609	Optic nerve hypoplasia	1788	DNMT3A	OMIM:615879
HP:0000609	Optic nerve hypoplasia	51807	TUBA8	ORPHA:250972
HP:0000609	Optic nerve hypoplasia	54820	NDE1	ORPHA:2177
HP:0000609	Optic nerve hypoplasia	8854	ALDH1A2	OMIM:620025
HP:0000609	Optic nerve hypoplasia	25914	RTTN	ORPHA:468631
HP:0000609	Optic nerve hypoplasia	25914	RTTN	OMIM:614833
HP:0000609	Optic nerve hypoplasia	8405	SPOP	OMIM:618828
HP:0000609	Optic nerve hypoplasia	5293	PIK3CD	ORPHA:221139
HP:0000609	Optic nerve hypoplasia	90417	KNSTRN	ORPHA:221139
HP:0000609	Optic nerve hypoplasia	415	ARSL	ORPHA:79345
HP:0000609	Optic nerve hypoplasia	256297	PTF1A	OMIM:609069
HP:0000609	Optic nerve hypoplasia	256297	PTF1A	ORPHA:65288
HP:0000609	Optic nerve hypoplasia	55593	OTUD5	OMIM:301056
HP:0000609	Optic nerve hypoplasia	3190	HNRNPK	ORPHA:453504
HP:0000609	Optic nerve hypoplasia	3190	HNRNPK	ORPHA:352665
HP:0000609	Optic nerve hypoplasia	55210	ATAD3A	ORPHA:496790
HP:0000609	Optic nerve hypoplasia	57459	GATAD2B	ORPHA:363686
HP:0000609	Optic nerve hypoplasia	29925	GMPPB	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	79147	FKRP	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	79147	FKRP	OMIM:236670
HP:0000609	Optic nerve hypoplasia	29954	POMT2	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	29954	POMT2	OMIM:236670
HP:0000609	Optic nerve hypoplasia	84197	POMK	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	10585	POMT1	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	10585	POMT1	OMIM:236670
HP:0000609	Optic nerve hypoplasia	5605	MAP2K2	OMIM:615280
HP:0000609	Optic nerve hypoplasia	8443	GNPAT	OMIM:222765
HP:0000609	Optic nerve hypoplasia	2222	FDFT1	OMIM:618156
HP:0000609	Optic nerve hypoplasia	29123	ANKRD11	ORPHA:261250
HP:0000609	Optic nerve hypoplasia	8882	ZPR1	OMIM:619321
HP:0000609	Optic nerve hypoplasia	55215	FANCI	OMIM:609053
HP:0000609	Optic nerve hypoplasia	2893	GRIA4	OMIM:617864
HP:0000609	Optic nerve hypoplasia	10730	YME1L1	OMIM:617302
HP:0000609	Optic nerve hypoplasia	5500	PPP1CB	OMIM:617506
HP:0000609	Optic nerve hypoplasia	5080	PAX6	OMIM:165550
HP:0000609	Optic nerve hypoplasia	5080	PAX6	ORPHA:137902
HP:0000609	Optic nerve hypoplasia	5080	PAX6	OMIM:106210
HP:0000609	Optic nerve hypoplasia	29072	SETD2	OMIM:620157
HP:0000609	Optic nerve hypoplasia	29072	SETD2	OMIM:620155
HP:0000609	Optic nerve hypoplasia	57688	ZSWIM6	OMIM:603671
HP:0000609	Optic nerve hypoplasia	9215	LARGE1	OMIM:236670
HP:0000609	Optic nerve hypoplasia	2218	FKTN	OMIM:236670
HP:0000609	Optic nerve hypoplasia	23499	MACF1	ORPHA:572013
HP:0000609	Optic nerve hypoplasia	387119	CEP85L	ORPHA:572013
HP:0000609	Optic nerve hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0000609	Optic nerve hypoplasia	4208	MEF2C	ORPHA:228384
HP:0000609	Optic nerve hypoplasia	4784	NFIX	OMIM:602535
HP:0000609	Optic nerve hypoplasia	6651	SON	ORPHA:500150
HP:0000609	Optic nerve hypoplasia	51360	MBTPS2	ORPHA:85284
HP:0000609	Optic nerve hypoplasia	729920	CRPPA	OMIM:614643
HP:0000609	Optic nerve hypoplasia	9968	MED12	ORPHA:93932
HP:0000609	Optic nerve hypoplasia	10381	TUBB3	ORPHA:300570
HP:0000609	Optic nerve hypoplasia	9928	KIF14	OMIM:617914
HP:0000609	Optic nerve hypoplasia	1063	CENPF	OMIM:243605
HP:0000609	Optic nerve hypoplasia	9401	RECQL4	OMIM:218600
HP:0000609	Optic nerve hypoplasia	148789	B3GALNT2	OMIM:615181
HP:0000609	Optic nerve hypoplasia	80173	IFT74	OMIM:619582
HP:0000609	Optic nerve hypoplasia	25930	PTPN23	OMIM:618890
HP:0000609	Optic nerve hypoplasia	132158	GLYCTK	OMIM:220120
HP:0000609	Optic nerve hypoplasia	7545	ZIC1	OMIM:618736
HP:0000609	Optic nerve hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0000609	Optic nerve hypoplasia	4990	SIX6	OMIM:206900
HP:0000609	Optic nerve hypoplasia	4747	NEFL	ORPHA:101085
HP:0000609	Optic nerve hypoplasia	7490	WT1	OMIM:106210
HP:0000609	Optic nerve hypoplasia	5626	PROP1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	2736	GLI2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	89884	LHX4	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	89884	LHX4	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	3170	FOXA2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	5449	POU1F1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	5015	OTX2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	5015	OTX2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	10735	STAG2	OMIM:301043
HP:0000609	Optic nerve hypoplasia	128674	PROKR2	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	128674	PROKR2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	55717	WDR11	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	6091	ROBO1	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	50937	CDON	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	23432	GPR161	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0000609	Optic nerve hypoplasia	2260	FGFR1	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	6657	SOX2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	6658	SOX3	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	9915	ARNT2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	7473	WNT3	ORPHA:3301
HP:0000609	Optic nerve hypoplasia	340419	RSPO2	ORPHA:3301
HP:0007274	Recurrent bacterial meningitis	3561	IL2RG	OMIM:300400
HP:0007277	Paucity of anterior horn motor neurons	2733	GLE1	OMIM:611890
HP:0007277	Paucity of anterior horn motor neurons	2733	GLE1	OMIM:253310
HP:0033122	Absent P wave	4878	NPPA	OMIM:615745
HP:0033122	Absent P wave	6331	SCN5A	OMIM:608567
HP:0033122	Absent P wave	2010	EMD	OMIM:310300
HP:0033124	Increased serum sorbitol concentration	6652	SORD	OMIM:618912
HP:0033127	Abnormality of the musculoskeletal system	268	AMH	ORPHA:2856
HP:0033127	Abnormality of the musculoskeletal system	268	AMH	OMIM:261550
HP:0033127	Abnormality of the musculoskeletal system	269	AMHR2	ORPHA:2856
HP:0033127	Abnormality of the musculoskeletal system	269	AMHR2	OMIM:261550
HP:0033127	Abnormality of the musculoskeletal system	57589	RIC1	OMIM:618761
HP:0033127	Abnormality of the musculoskeletal system	3670	ISL1	ORPHA:93930
HP:0033127	Abnormality of the musculoskeletal system	5337	PLD1	OMIM:212093
HP:0033127	Abnormality of the musculoskeletal system	6935	ZEB1	OMIM:609141
HP:0033127	Abnormality of the musculoskeletal system	6499	SKIC2	ORPHA:84064
HP:0033127	Abnormality of the musculoskeletal system	29969	MDFIC	OMIM:620014
HP:0033127	Abnormality of the musculoskeletal system	197257	LDHD	OMIM:245450
HP:0033127	Abnormality of the musculoskeletal system	10907	TXNL4A	OMIM:608572
HP:0033127	Abnormality of the musculoskeletal system	3070	HELLS	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	1789	DNMT3B	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	1789	DNMT3B	OMIM:242860
HP:0033127	Abnormality of the musculoskeletal system	9841	ZBTB24	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	3975	LHX1	ORPHA:261265
HP:0033127	Abnormality of the musculoskeletal system	3115	HLA-DPB1	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	5657	PRTN3	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	3113	HLA-DPA1	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	4689	NCF4	ORPHA:379
HP:0033127	Abnormality of the musculoskeletal system	79415	CYBC1	ORPHA:379
HP:0033127	Abnormality of the musculoskeletal system	5994	RFXAP	ORPHA:572
HP:0033127	Abnormality of the musculoskeletal system	5993	RFX5	ORPHA:572
HP:0033127	Abnormality of the musculoskeletal system	8625	RFXANK	ORPHA:572
HP:0033127	Abnormality of the musculoskeletal system	7852	CXCR4	ORPHA:51636
HP:0033127	Abnormality of the musculoskeletal system	3321	IGSF3	OMIM:149700
HP:0033127	Abnormality of the musculoskeletal system	23495	TNFRSF13B	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	4790	NFKB1	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	4791	NFKB2	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	115650	TNFRSF13C	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	1380	CR2	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	8742	TNFSF12	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	930	CD19	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	29851	ICOS	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	931	MS4A1	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	975	CD81	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	154881	KCTD7	OMIM:611726
HP:0033127	Abnormality of the musculoskeletal system	154881	KCTD7	ORPHA:263516
HP:0033127	Abnormality of the musculoskeletal system	3431	SP110	OMIM:235550
HP:0033127	Abnormality of the musculoskeletal system	3431	SP110	ORPHA:79124
HP:0033127	Abnormality of the musculoskeletal system	8452	CUL3	OMIM:619239
HP:0033127	Abnormality of the musculoskeletal system	338657	CENATAC	OMIM:620153
HP:0033127	Abnormality of the musculoskeletal system	54084	TSPEAR	OMIM:620173
HP:0033127	Abnormality of the musculoskeletal system	9837	GINS1	OMIM:617827
HP:0033127	Abnormality of the musculoskeletal system	79840	NHEJ1	ORPHA:169079
HP:0033127	Abnormality of the musculoskeletal system	5361	PLXNA1	OMIM:619955
HP:0033127	Abnormality of the musculoskeletal system	80153	EDC3	OMIM:616460
HP:0033127	Abnormality of the musculoskeletal system	7385	UQCRC2	OMIM:615160
HP:0033127	Abnormality of the musculoskeletal system	340665	CYP26C1	ORPHA:398189
HP:0033127	Abnormality of the musculoskeletal system	10524	KAT5	OMIM:619103
HP:0033127	Abnormality of the musculoskeletal system	10134	BCAP31	OMIM:300475
HP:0033127	Abnormality of the musculoskeletal system	10134	BCAP31	ORPHA:369939
HP:0033127	Abnormality of the musculoskeletal system	5591	PRKDC	OMIM:615966
HP:0033127	Abnormality of the musculoskeletal system	92154	MTSS2	OMIM:620086
HP:0033127	Abnormality of the musculoskeletal system	1828	DSG1	OMIM:615508
HP:0033127	Abnormality of the musculoskeletal system	55997	CFC1	OMIM:605376
HP:0033127	Abnormality of the musculoskeletal system	81614	NIPA2	ORPHA:261183
HP:0033127	Abnormality of the musculoskeletal system	27341	RRP7A	OMIM:619453
HP:0033127	Abnormality of the musculoskeletal system	3176	HNMT	OMIM:616739
HP:0033127	Abnormality of the musculoskeletal system	7991	TUSC3	OMIM:611093
HP:0033127	Abnormality of the musculoskeletal system	8192	CLPP	OMIM:614129
HP:0033127	Abnormality of the musculoskeletal system	55367	PIDD1	OMIM:619827
HP:0033127	Abnormality of the musculoskeletal system	3781	KCNN2	OMIM:619725
HP:0033127	Abnormality of the musculoskeletal system	51728	POLR3K	OMIM:619310
HP:0033127	Abnormality of the musculoskeletal system	81555	YIPF5	OMIM:619278
HP:0033127	Abnormality of the musculoskeletal system	4173	MCM4	OMIM:609981
HP:0033127	Abnormality of the musculoskeletal system	5429	POLH	OMIM:278750
HP:0033127	Abnormality of the musculoskeletal system	2584	GALK1	ORPHA:79237
HP:0033127	Abnormality of the musculoskeletal system	23397	NCAPH	OMIM:617985
HP:0033127	Abnormality of the musculoskeletal system	23001	WDFY3	OMIM:617520
HP:0033127	Abnormality of the musculoskeletal system	54862	CC2D1A	OMIM:608443
HP:0033127	Abnormality of the musculoskeletal system	91801	ALKBH8	OMIM:618504
HP:0033127	Abnormality of the musculoskeletal system	51111	KMT5B	OMIM:617788
HP:0033127	Abnormality of the musculoskeletal system	100128927	ZBTB42	OMIM:616248
HP:0033127	Abnormality of the musculoskeletal system	10653	SPINT2	OMIM:270420
HP:0033127	Abnormality of the musculoskeletal system	6853	SYN1	ORPHA:85294
HP:0033127	Abnormality of the musculoskeletal system	6853	SYN1	OMIM:300491
HP:0033127	Abnormality of the musculoskeletal system	23590	PDSS1	OMIM:614651
HP:0033127	Abnormality of the musculoskeletal system	6907	TBL1X	OMIM:301033
HP:0033127	Abnormality of the musculoskeletal system	6888	TALDO1	OMIM:606003
HP:0033127	Abnormality of the musculoskeletal system	7174	TPP2	OMIM:619220
HP:0033127	Abnormality of the musculoskeletal system	2296	FOXC1	OMIM:602482
HP:0033127	Abnormality of the musculoskeletal system	90161	HS6ST2	OMIM:301025
HP:0033127	Abnormality of the musculoskeletal system	6898	TAT	ORPHA:28378
HP:0033127	Abnormality of the musculoskeletal system	9130	FAM50A	OMIM:300261
HP:0033127	Abnormality of the musculoskeletal system	23265	EXOC7	OMIM:619072
HP:0033127	Abnormality of the musculoskeletal system	147912	SIX5	ORPHA:107
HP:0033127	Abnormality of the musculoskeletal system	79791	FBXO31	OMIM:615979
HP:0033127	Abnormality of the musculoskeletal system	54796	BNC2	ORPHA:93110
HP:0033127	Abnormality of the musculoskeletal system	8516	ITGA8	OMIM:191830
HP:0033127	Abnormality of the musculoskeletal system	388662	SLC6A17	ORPHA:457212
HP:0033127	Abnormality of the musculoskeletal system	388662	SLC6A17	OMIM:616269
HP:0033127	Abnormality of the musculoskeletal system	5521	PPP2R2B	OMIM:604326
HP:0033127	Abnormality of the musculoskeletal system	5308	PITX2	ORPHA:782
HP:0033127	Abnormality of the musculoskeletal system	5308	PITX2	OMIM:180500
HP:0033127	Abnormality of the musculoskeletal system	7314	UBB	ORPHA:99772
HP:0033127	Abnormality of the musculoskeletal system	57822	GRHL3	ORPHA:99772
HP:0033127	Abnormality of the musculoskeletal system	1739	DLG1	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	5156	PDGFRA	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	9411	ARHGAP29	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	1748	DLX4	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	10935	PRDX3	OMIM:619862
HP:0033127	Abnormality of the musculoskeletal system	199221	DZIP1L	ORPHA:731
HP:0033127	Abnormality of the musculoskeletal system	5314	PKHD1	ORPHA:731
HP:0033127	Abnormality of the musculoskeletal system	3211	HOXB1	OMIM:614744
HP:0033127	Abnormality of the musculoskeletal system	4174	MCM5	OMIM:617564
HP:0033127	Abnormality of the musculoskeletal system	83483	PLVAP	OMIM:618183
HP:0033127	Abnormality of the musculoskeletal system	2774	GNAL	OMIM:615073
HP:0033127	Abnormality of the musculoskeletal system	2774	GNAL	ORPHA:329466
HP:0033127	Abnormality of the musculoskeletal system	3208	HPCA	ORPHA:99657
HP:0033127	Abnormality of the musculoskeletal system	3208	HPCA	OMIM:224500
HP:0033127	Abnormality of the musculoskeletal system	63982	ANO3	ORPHA:420485
HP:0033127	Abnormality of the musculoskeletal system	63982	ANO3	OMIM:615034
HP:0033127	Abnormality of the musculoskeletal system	343641	TGM6	OMIM:613908
HP:0033127	Abnormality of the musculoskeletal system	343641	TGM6	ORPHA:276193
HP:0033127	Abnormality of the musculoskeletal system	64601	VPS16	OMIM:619291
HP:0033127	Abnormality of the musculoskeletal system	1813	DRD2	ORPHA:36899
HP:0033127	Abnormality of the musculoskeletal system	79734	KCTD17	ORPHA:36899
HP:0033127	Abnormality of the musculoskeletal system	79734	KCTD17	OMIM:616398
HP:0033127	Abnormality of the musculoskeletal system	55145	THAP1	ORPHA:98806
HP:0033127	Abnormality of the musculoskeletal system	55145	THAP1	OMIM:602629
HP:0033127	Abnormality of the musculoskeletal system	256472	TMEM151A	OMIM:620245
HP:0033127	Abnormality of the musculoskeletal system	6342	SCP2	OMIM:613724
HP:0033127	Abnormality of the musculoskeletal system	59335	PRDM12	OMIM:616488
HP:0033127	Abnormality of the musculoskeletal system	7045	TGFBI	OMIM:602082
HP:0033127	Abnormality of the musculoskeletal system	7045	TGFBI	ORPHA:98964
HP:0033127	Abnormality of the musculoskeletal system	7399	USH2A	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	79955	PDZD7	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	4647	MYO7A	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	4647	MYO7A	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	25861	WHRN	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	84059	ADGRV1	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	9871	SEC24D	ORPHA:2050
HP:0033127	Abnormality of the musculoskeletal system	5034	P4HB	ORPHA:2050
HP:0033127	Abnormality of the musculoskeletal system	8517	IKBKG	ORPHA:464
HP:0033127	Abnormality of the musculoskeletal system	84172	POLR1B	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	9533	POLR1C	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	51082	POLR1D	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	6949	TCOF1	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	63916	ELMO2	ORPHA:3019
HP:0033127	Abnormality of the musculoskeletal system	26504	CNNM4	ORPHA:1873
HP:0033127	Abnormality of the musculoskeletal system	224	ALDH3A2	ORPHA:816
HP:0033127	Abnormality of the musculoskeletal system	54757	FAM20A	ORPHA:1031
HP:0033127	Abnormality of the musculoskeletal system	5818	NECTIN1	ORPHA:3253
HP:0033127	Abnormality of the musculoskeletal system	9076	CLDN1	ORPHA:59303
HP:0033127	Abnormality of the musculoskeletal system	324	APC	ORPHA:3258
HP:0033127	Abnormality of the musculoskeletal system	4763	NF1	ORPHA:139474
HP:0033127	Abnormality of the musculoskeletal system	55315	SLC29A3	ORPHA:1782
HP:0033127	Abnormality of the musculoskeletal system	2248	FGF3	ORPHA:2791
HP:0033127	Abnormality of the musculoskeletal system	79641	ROGDI	ORPHA:1946
HP:0033127	Abnormality of the musculoskeletal system	10083	USH1C	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	124590	USH1G	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	83715	ESPN	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	10518	CIB2	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	65217	PCDH15	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	84818	IL17RC	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	64581	CLEC7A	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	23765	IL17RA	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	10758	TRAF3IP2	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	112744	IL17F	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	2720	GLB1	OMIM:253010
HP:0033127	Abnormality of the musculoskeletal system	2588	GALNS	OMIM:253000
HP:0033127	Abnormality of the musculoskeletal system	1834	DSPP	OMIM:125500
HP:0033127	Abnormality of the musculoskeletal system	5251	PHEX	ORPHA:89936
HP:0033127	Abnormality of the musculoskeletal system	5176	SERPINF1	OMIM:613982
HP:0033127	Abnormality of the musculoskeletal system	265	AMELX	OMIM:301200
HP:0033127	Abnormality of the musculoskeletal system	93650	ACP4	OMIM:617297
HP:0033127	Abnormality of the musculoskeletal system	84957	RELT	OMIM:618386
HP:0033127	Abnormality of the musculoskeletal system	256764	WDR72	OMIM:613211
HP:0033127	Abnormality of the musculoskeletal system	8111	GPR68	OMIM:617217
HP:0033127	Abnormality of the musculoskeletal system	10117	ENAM	OMIM:204650
HP:0033127	Abnormality of the musculoskeletal system	10117	ENAM	OMIM:104500
HP:0033127	Abnormality of the musculoskeletal system	286077	FAM83H	OMIM:130900
HP:0033127	Abnormality of the musculoskeletal system	80320	SP6	OMIM:620104
HP:0033127	Abnormality of the musculoskeletal system	9313	MMP20	OMIM:612529
HP:0033127	Abnormality of the musculoskeletal system	258	AMBN	OMIM:616270
HP:0033127	Abnormality of the musculoskeletal system	149461	CLDN19	OMIM:248190
HP:0033127	Abnormality of the musculoskeletal system	123041	SLC24A4	OMIM:615887
HP:0033127	Abnormality of the musculoskeletal system	152816	ODAPH	OMIM:614832
HP:0033127	Abnormality of the musculoskeletal system	9622	KLK4	OMIM:204700
HP:0033127	Abnormality of the musculoskeletal system	1747	DLX3	OMIM:104510
HP:0033127	Abnormality of the musculoskeletal system	401138	AMTN	OMIM:617607
HP:0033127	Abnormality of the musculoskeletal system	1589	CYP21A2	OMIM:201910
HP:0033127	Abnormality of the musculoskeletal system	6440	SFTPC	ORPHA:70587
HP:0033127	Abnormality of the musculoskeletal system	21	ABCA3	ORPHA:70587
HP:0033127	Abnormality of the musculoskeletal system	6439	SFTPB	ORPHA:70587
HP:0033127	Abnormality of the musculoskeletal system	5978	REST	OMIM:617626
HP:0033127	Abnormality of the musculoskeletal system	3476	IGBP1	ORPHA:52055
HP:0033127	Abnormality of the musculoskeletal system	3476	IGBP1	OMIM:300472
HP:0033127	Abnormality of the musculoskeletal system	51729	WBP11	OMIM:619227
HP:0033127	Abnormality of the musculoskeletal system	23405	DICER1	OMIM:618272
HP:0033127	Abnormality of the musculoskeletal system	374354	NHLRC2	OMIM:618278
HP:0033127	Abnormality of the musculoskeletal system	10220	GDF11	OMIM:619122
HP:0033127	Abnormality of the musculoskeletal system	4617	MYF5	OMIM:618155
HP:0033127	Abnormality of the musculoskeletal system	10491	CRTAP	OMIM:610682
HP:0033127	Abnormality of the musculoskeletal system	9780	PIEZO1	OMIM:616843
HP:0033127	Abnormality of the musculoskeletal system	55969	RAB5IF	OMIM:616994
HP:0033127	Abnormality of the musculoskeletal system	79875	THSD4	OMIM:619825
HP:0033127	Abnormality of the musculoskeletal system	5352	PLOD2	OMIM:609220
HP:0033127	Abnormality of the musculoskeletal system	64412	GZF1	OMIM:617662
HP:0033127	Abnormality of the musculoskeletal system	84572	GNPTG	OMIM:252605
HP:0033127	Abnormality of the musculoskeletal system	60681	FKBP10	OMIM:259450
HP:0033127	Abnormality of the musculoskeletal system	203190	LGI3	OMIM:620007
HP:0033127	Abnormality of the musculoskeletal system	1131	CHRM3	ORPHA:2970
HP:0033127	Abnormality of the musculoskeletal system	6911	TBX6	ORPHA:1797
HP:0033127	Abnormality of the musculoskeletal system	23184	MESD	OMIM:618644
HP:0033127	Abnormality of the musculoskeletal system	5111	PCNA	OMIM:615919
HP:0033127	Abnormality of the musculoskeletal system	5111	PCNA	ORPHA:438134
HP:0033127	Abnormality of the musculoskeletal system	4036	LRP2	ORPHA:2143
HP:0033127	Abnormality of the musculoskeletal system	4036	LRP2	OMIM:222448
HP:0033127	Abnormality of the musculoskeletal system	57216	VANGL2	ORPHA:563609
HP:0033127	Abnormality of the musculoskeletal system	745	MYRF	OMIM:618280
HP:0033127	Abnormality of the musculoskeletal system	4281	MID1	ORPHA:2745
HP:0033127	Abnormality of the musculoskeletal system	6909	TBX2	OMIM:618223
HP:0033127	Abnormality of the musculoskeletal system	1000	CDH2	OMIM:618929
HP:0033127	Abnormality of the musculoskeletal system	10801	SEPTIN9	ORPHA:2901
HP:0033127	Abnormality of the musculoskeletal system	28234	SLCO1B3	OMIM:237450
HP:0033127	Abnormality of the musculoskeletal system	10599	SLCO1B1	OMIM:237450
HP:0033127	Abnormality of the musculoskeletal system	3229	HOXC13	OMIM:614931
HP:0033127	Abnormality of the musculoskeletal system	5476	CTSA	ORPHA:351
HP:0033127	Abnormality of the musculoskeletal system	60561	RINT1	OMIM:618641
HP:0033127	Abnormality of the musculoskeletal system	50485	SMARCAL1	ORPHA:1830
HP:0033127	Abnormality of the musculoskeletal system	50485	SMARCAL1	OMIM:242900
HP:0033127	Abnormality of the musculoskeletal system	100	ADA	OMIM:102700
HP:0033127	Abnormality of the musculoskeletal system	55109	AGGF1	ORPHA:90308
HP:0033127	Abnormality of the musculoskeletal system	486	FXYD2	OMIM:154020
HP:0033127	Abnormality of the musculoskeletal system	10043	TOM1	ORPHA:391487
HP:0033127	Abnormality of the musculoskeletal system	80067	DCAF17	ORPHA:3464
HP:0033127	Abnormality of the musculoskeletal system	9247	GCM2	OMIM:617343
HP:0033127	Abnormality of the musculoskeletal system	9247	GCM2	ORPHA:99879
HP:0033127	Abnormality of the musculoskeletal system	2672	GFI1	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	6809	STX3	OMIM:619445
HP:0033127	Abnormality of the musculoskeletal system	6809	STX3	OMIM:619446
HP:0033127	Abnormality of the musculoskeletal system	551	AVP	OMIM:125700
HP:0033127	Abnormality of the musculoskeletal system	5205	ATP8B1	OMIM:211600
HP:0033127	Abnormality of the musculoskeletal system	6554	SLC10A1	OMIM:619256
HP:0033127	Abnormality of the musculoskeletal system	4194	MDM4	OMIM:618849
HP:0033127	Abnormality of the musculoskeletal system	2100	ESR2	OMIM:618187
HP:0033127	Abnormality of the musculoskeletal system	80270	HSD3B7	ORPHA:79301
HP:0033127	Abnormality of the musculoskeletal system	26012	NSMF	OMIM:614838
HP:0033127	Abnormality of the musculoskeletal system	26012	NSMF	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	6845	VAMP7	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	4214	MAP3K1	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	58524	DMRT3	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	190	NR0B1	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	799	CALCR	OMIM:166710
HP:0033127	Abnormality of the musculoskeletal system	8572	PDLIM4	OMIM:166710
HP:0033127	Abnormality of the musculoskeletal system	2947	GSTM3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	1084	CEACAM3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	6556	SLC11A1	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	51164	DCTN4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	3783	KCNN4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	1909	EDNRA	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	6550	SLC9A3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	3162	HMOX1	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	115019	SLC26A9	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	11254	SLC6A14	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	5265	SERPINA1	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	22802	CLCA4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	4680	CEACAM6	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	6714	SRC	OMIM:616937
HP:0033127	Abnormality of the musculoskeletal system	5618	PRLR	ORPHA:397685
HP:0033127	Abnormality of the musculoskeletal system	2796	GNRH1	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	2798	GNRHR	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	84634	KISS1R	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	6866	TAC3	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	3814	KISS1	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	23395	LARS2	OMIM:615300
HP:0033127	Abnormality of the musculoskeletal system	6689	SPIB	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	5450	POU2AF1	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	9966	TNFSF15	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	79258	MMEL1	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	79983	POF1B	OMIM:300604
HP:0033127	Abnormality of the musculoskeletal system	55811	ADCY10	ORPHA:2197
HP:0033127	Abnormality of the musculoskeletal system	3575	IL7R	ORPHA:39041
HP:0033127	Abnormality of the musculoskeletal system	3561	IL2RG	ORPHA:39041
HP:0033127	Abnormality of the musculoskeletal system	6650	CAPN15	OMIM:619318
HP:0033127	Abnormality of the musculoskeletal system	79783	SUGCT	ORPHA:35706
HP:0033127	Abnormality of the musculoskeletal system	23137	SMC5	OMIM:620185
HP:0033127	Abnormality of the musculoskeletal system	92840	REEP6	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6094	ROM1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6017	RLBP1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	7401	CLRN1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	24	ABCA4	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	130557	ZNF513	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	92211	CDHR1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	23568	ARL2BP	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6101	RP1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	3419	IDH3A	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	4751	NEK2	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	346007	EYS	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	8100	IFT88	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	23020	SNRNP200	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	762	CA4	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	196	AHR	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5148	PDE6G	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	26121	PRPF31	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	4117	MAK	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	25794	FSCN2	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	375298	CERKL	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	3420	IDH3B	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	57670	KIAA1549	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	7275	TUB	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	24148	PRPF6	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	10461	MERTK	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	57709	SLC7A14	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	768206	PRCD	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	23370	ARHGEF18	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5949	RBP3	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6010	RHO	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6100	RP9	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	10002	NR2E3	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	84140	FAM161A	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5145	PDE6A	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	8842	PROM1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	9128	PRPF4	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	50939	IMPG2	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	2979	GUCA1B	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	1259	CNGA1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	1258	CNGB1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	60509	AGBL5	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5961	PRPH2	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	388939	PCARE	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	7439	BEST1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	9785	DHX38	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5995	RGR	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	9129	PRPF3	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	3617	IMPG1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	94137	RP1L1	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	5158	PDE6B	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6102	RP2	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	55857	KIZ	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	4901	NRL	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	10594	PRPF8	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	6295	SAG	ORPHA:791
HP:0033127	Abnormality of the musculoskeletal system	23385	NCSTN	OMIM:142690
HP:0033127	Abnormality of the musculoskeletal system	57538	ALPK3	OMIM:618052
HP:0033127	Abnormality of the musculoskeletal system	4035	LRP1	ORPHA:79100
HP:0033127	Abnormality of the musculoskeletal system	10617	STAMBP	OMIM:614261
HP:0033127	Abnormality of the musculoskeletal system	28981	IFT81	OMIM:617895
HP:0033127	Abnormality of the musculoskeletal system	392255	GDF6	OMIM:617898
HP:0033127	Abnormality of the musculoskeletal system	5238	PGM3	ORPHA:443811
HP:0033127	Abnormality of the musculoskeletal system	55733	HHAT	OMIM:600092
HP:0033127	Abnormality of the musculoskeletal system	1836	SLC26A2	ORPHA:56304
HP:0033127	Abnormality of the musculoskeletal system	1836	SLC26A2	OMIM:226900
HP:0033127	Abnormality of the musculoskeletal system	1836	SLC26A2	ORPHA:93307
HP:0033127	Abnormality of the musculoskeletal system	9786	KIAA0586	ORPHA:397715
HP:0033127	Abnormality of the musculoskeletal system	114803	MYSM1	ORPHA:508542
HP:0033127	Abnormality of the musculoskeletal system	149775	GNAS-AS1	OMIM:603233
HP:0033127	Abnormality of the musculoskeletal system	8675	STX16	OMIM:603233
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	OMIM:603233
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	ORPHA:79443
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	ORPHA:79444
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	ORPHA:79445
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	OMIM:612463
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	OMIM:612462
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	ORPHA:2762
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	OMIM:103580
HP:0033127	Abnormality of the musculoskeletal system	10026	PIGK	OMIM:618879
HP:0033127	Abnormality of the musculoskeletal system	28960	DCPS	OMIM:616459
HP:0033127	Abnormality of the musculoskeletal system	57231	SNX14	ORPHA:397709
HP:0033127	Abnormality of the musculoskeletal system	57231	SNX14	OMIM:616354
HP:0033127	Abnormality of the musculoskeletal system	1513	CTSK	OMIM:265800
HP:0033127	Abnormality of the musculoskeletal system	1513	CTSK	ORPHA:763
HP:0033127	Abnormality of the musculoskeletal system	818	CAMK2G	OMIM:618522
HP:0033127	Abnormality of the musculoskeletal system	54453	RIN2	OMIM:613075
HP:0033127	Abnormality of the musculoskeletal system	54453	RIN2	ORPHA:217335
HP:0033127	Abnormality of the musculoskeletal system	170691	ADAMTS17	OMIM:613195
HP:0033127	Abnormality of the musculoskeletal system	9469	CHST3	OMIM:143095
HP:0033127	Abnormality of the musculoskeletal system	9469	CHST3	ORPHA:263463
HP:0033127	Abnormality of the musculoskeletal system	7994	KAT6A	ORPHA:457193
HP:0033127	Abnormality of the musculoskeletal system	7994	KAT6A	OMIM:616268
HP:0033127	Abnormality of the musculoskeletal system	84100	ARL6	OMIM:209900
HP:0033127	Abnormality of the musculoskeletal system	84100	ARL6	OMIM:600151
HP:0033127	Abnormality of the musculoskeletal system	79140	CCDC28B	OMIM:209900
HP:0033127	Abnormality of the musculoskeletal system	582	BBS1	OMIM:209900
HP:0033127	Abnormality of the musculoskeletal system	8036	SHOC2	ORPHA:2701
HP:0033127	Abnormality of the musculoskeletal system	5500	PPP1CB	ORPHA:2701
HP:0033127	Abnormality of the musculoskeletal system	63901	FAM111A	OMIM:602361
HP:0033127	Abnormality of the musculoskeletal system	81794	ADAMTS10	OMIM:277600
HP:0033127	Abnormality of the musculoskeletal system	81794	ADAMTS10	ORPHA:3449
HP:0033127	Abnormality of the musculoskeletal system	26160	IFT172	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	26160	IFT172	OMIM:615630
HP:0033127	Abnormality of the musculoskeletal system	153241	CEP120	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	51626	DYNC2LI1	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	51626	DYNC2LI1	OMIM:617088
HP:0033127	Abnormality of the musculoskeletal system	79809	TTC21B	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	79809	TTC21B	OMIM:613819
HP:0033127	Abnormality of the musculoskeletal system	8493	PPM1D	OMIM:617450
HP:0033127	Abnormality of the musculoskeletal system	56006	SMG9	OMIM:619995
HP:0033127	Abnormality of the musculoskeletal system	23126	POGZ	OMIM:616364
HP:0033127	Abnormality of the musculoskeletal system	27125	AFF4	OMIM:616368
HP:0033127	Abnormality of the musculoskeletal system	27125	AFF4	ORPHA:444077
HP:0033127	Abnormality of the musculoskeletal system	1311	COMP	OMIM:177170
HP:0033127	Abnormality of the musculoskeletal system	1311	COMP	ORPHA:750
HP:0033127	Abnormality of the musculoskeletal system	1311	COMP	ORPHA:93308
HP:0033127	Abnormality of the musculoskeletal system	4247	MGAT2	ORPHA:79329
HP:0033127	Abnormality of the musculoskeletal system	8314	BAP1	OMIM:619762
HP:0033127	Abnormality of the musculoskeletal system	54928	BPNT2	OMIM:614078
HP:0033127	Abnormality of the musculoskeletal system	3930	LBR	OMIM:215140
HP:0033127	Abnormality of the musculoskeletal system	3930	LBR	OMIM:618019
HP:0033127	Abnormality of the musculoskeletal system	3930	LBR	ORPHA:1426
HP:0033127	Abnormality of the musculoskeletal system	4488	MSX2	OMIM:604757
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	ORPHA:377
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	OMIM:109400
HP:0033127	Abnormality of the musculoskeletal system	8643	PTCH2	ORPHA:377
HP:0033127	Abnormality of the musculoskeletal system	51684	SUFU	ORPHA:377
HP:0033127	Abnormality of the musculoskeletal system	6603	SMARCD2	OMIM:617475
HP:0033127	Abnormality of the musculoskeletal system	23219	FBXO28	OMIM:619777
HP:0033127	Abnormality of the musculoskeletal system	51322	WAC	ORPHA:466950
HP:0033127	Abnormality of the musculoskeletal system	29929	ALG6	ORPHA:79320
HP:0033127	Abnormality of the musculoskeletal system	79053	ALG8	ORPHA:79325
HP:0033127	Abnormality of the musculoskeletal system	257	ALX3	OMIM:136760
HP:0033127	Abnormality of the musculoskeletal system	257	ALX3	ORPHA:391474
HP:0033127	Abnormality of the musculoskeletal system	2879	GPX4	OMIM:250220
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	OMIM:132450
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	OMIM:619248
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	ORPHA:166011
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	OMIM:271700
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	OMIM:151210
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	OMIM:184250
HP:0033127	Abnormality of the musculoskeletal system	2623	GATA1	OMIM:190685
HP:0033127	Abnormality of the musculoskeletal system	176	ACAN	OMIM:612813
HP:0033127	Abnormality of the musculoskeletal system	176	ACAN	ORPHA:171866
HP:0033127	Abnormality of the musculoskeletal system	176	ACAN	ORPHA:435804
HP:0033127	Abnormality of the musculoskeletal system	176	ACAN	OMIM:165800
HP:0033127	Abnormality of the musculoskeletal system	51114	ZDHHC9	ORPHA:776
HP:0033127	Abnormality of the musculoskeletal system	65109	UPF3B	ORPHA:776
HP:0033127	Abnormality of the musculoskeletal system	79068	FTO	OMIM:612938
HP:0033127	Abnormality of the musculoskeletal system	56975	FAM20C	OMIM:259775
HP:0033127	Abnormality of the musculoskeletal system	55249	YY1AP1	OMIM:602531
HP:0033127	Abnormality of the musculoskeletal system	10940	POP1	OMIM:617396
HP:0033127	Abnormality of the musculoskeletal system	51132	RLIM	OMIM:300978
HP:0033127	Abnormality of the musculoskeletal system	4141	MARS1	OMIM:619692
HP:0033127	Abnormality of the musculoskeletal system	1621	DBH	OMIM:223360
HP:0033127	Abnormality of the musculoskeletal system	54496	PRMT7	OMIM:617157
HP:0033127	Abnormality of the musculoskeletal system	54496	PRMT7	ORPHA:464288
HP:0033127	Abnormality of the musculoskeletal system	2316	FLNA	ORPHA:88630
HP:0033127	Abnormality of the musculoskeletal system	2316	FLNA	OMIM:300244
HP:0033127	Abnormality of the musculoskeletal system	5077	PAX3	OMIM:148820
HP:0033127	Abnormality of the musculoskeletal system	10483	SEC23B	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	6390	SDHB	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	6392	SDHD	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	6391	SDHC	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	205717	USF3	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	5290	PIK3CA	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	100144748	KLLN	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	633	BGN	OMIM:300989
HP:0033127	Abnormality of the musculoskeletal system	633	BGN	OMIM:300106
HP:0033127	Abnormality of the musculoskeletal system	10297	APC2	OMIM:617169
HP:0033127	Abnormality of the musculoskeletal system	7403	KDM6A	OMIM:300867
HP:0033127	Abnormality of the musculoskeletal system	5144	PDE4D	ORPHA:439822
HP:0033127	Abnormality of the musculoskeletal system	5144	PDE4D	ORPHA:950
HP:0033127	Abnormality of the musculoskeletal system	5144	PDE4D	OMIM:614613
HP:0033127	Abnormality of the musculoskeletal system	5144	PDE4D	ORPHA:280651
HP:0033127	Abnormality of the musculoskeletal system	6023	RMRP	OMIM:607095
HP:0033127	Abnormality of the musculoskeletal system	5573	PRKAR1A	OMIM:101800
HP:0033127	Abnormality of the musculoskeletal system	5573	PRKAR1A	ORPHA:950
HP:0033127	Abnormality of the musculoskeletal system	5573	PRKAR1A	ORPHA:280651
HP:0033127	Abnormality of the musculoskeletal system	64374	SIL1	ORPHA:559
HP:0033127	Abnormality of the musculoskeletal system	51763	INPP5K	ORPHA:559
HP:0033127	Abnormality of the musculoskeletal system	9851	KIAA0753	OMIM:619479
HP:0033127	Abnormality of the musculoskeletal system	9851	KIAA0753	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	5530	PPP3CA	OMIM:618265
HP:0033127	Abnormality of the musculoskeletal system	10283	CWC27	OMIM:250410
HP:0033127	Abnormality of the musculoskeletal system	10283	CWC27	ORPHA:166035
HP:0033127	Abnormality of the musculoskeletal system	6513	SLC2A1	ORPHA:168577
HP:0033127	Abnormality of the musculoskeletal system	9060	PAPSS2	OMIM:612847
HP:0033127	Abnormality of the musculoskeletal system	4796	TONSL	OMIM:271510
HP:0033127	Abnormality of the musculoskeletal system	4796	TONSL	ORPHA:93357
HP:0033127	Abnormality of the musculoskeletal system	2131	EXT1	ORPHA:502
HP:0033127	Abnormality of the musculoskeletal system	8720	MBTPS1	OMIM:618392
HP:0033127	Abnormality of the musculoskeletal system	2077	ERF	OMIM:617180
HP:0033127	Abnormality of the musculoskeletal system	5130	PCYT1A	ORPHA:85167
HP:0033127	Abnormality of the musculoskeletal system	5130	PCYT1A	OMIM:608940
HP:0033127	Abnormality of the musculoskeletal system	23169	SLC35D1	OMIM:269250
HP:0033127	Abnormality of the musculoskeletal system	407975	MIR17HG	ORPHA:391646
HP:0033127	Abnormality of the musculoskeletal system	5295	PIK3R1	ORPHA:3163
HP:0033127	Abnormality of the musculoskeletal system	51371	POMP	OMIM:618048
HP:0033127	Abnormality of the musculoskeletal system	57152	SLURP1	OMIM:248300
HP:0033127	Abnormality of the musculoskeletal system	51594	NBAS	OMIM:614800
HP:0033127	Abnormality of the musculoskeletal system	9897	WASHC5	ORPHA:7
HP:0033127	Abnormality of the musculoskeletal system	11011	TLK2	OMIM:618050
HP:0033127	Abnormality of the musculoskeletal system	51109	RDH11	ORPHA:436245
HP:0033127	Abnormality of the musculoskeletal system	25886	POC1A	OMIM:614813
HP:0033127	Abnormality of the musculoskeletal system	4053	LTBP2	OMIM:614819
HP:0033127	Abnormality of the musculoskeletal system	4053	LTBP2	ORPHA:3449
HP:0033127	Abnormality of the musculoskeletal system	2690	GHR	ORPHA:633
HP:0033127	Abnormality of the musculoskeletal system	9131	AIFM1	OMIM:300232
HP:0033127	Abnormality of the musculoskeletal system	118429	ANTXR2	ORPHA:2176
HP:0033127	Abnormality of the musculoskeletal system	5447	POR	ORPHA:95699
HP:0033127	Abnormality of the musculoskeletal system	22858	CILK1	OMIM:612651
HP:0033127	Abnormality of the musculoskeletal system	26153	KIF26A	OMIM:620156
HP:0033127	Abnormality of the musculoskeletal system	56992	KIF15	ORPHA:261323
HP:0033127	Abnormality of the musculoskeletal system	8289	ARID1A	OMIM:614607
HP:0033127	Abnormality of the musculoskeletal system	4054	LTBP3	ORPHA:969
HP:0033127	Abnormality of the musculoskeletal system	4054	LTBP3	OMIM:617809
HP:0033127	Abnormality of the musculoskeletal system	222663	SCUBE3	OMIM:619184
HP:0033127	Abnormality of the musculoskeletal system	6885	MAP3K7	OMIM:157800
HP:0033127	Abnormality of the musculoskeletal system	6885	MAP3K7	ORPHA:3238
HP:0033127	Abnormality of the musculoskeletal system	51021	MRPS16	OMIM:610498
HP:0033127	Abnormality of the musculoskeletal system	1302	COL11A2	ORPHA:2021
HP:0033127	Abnormality of the musculoskeletal system	1302	COL11A2	ORPHA:1427
HP:0033127	Abnormality of the musculoskeletal system	4853	NOTCH2	ORPHA:955
HP:0033127	Abnormality of the musculoskeletal system	2254	FGF9	ORPHA:3237
HP:0033127	Abnormality of the musculoskeletal system	55343	SLC35C1	OMIM:266265
HP:0033127	Abnormality of the musculoskeletal system	4089	SMAD4	OMIM:139210
HP:0033127	Abnormality of the musculoskeletal system	4089	SMAD4	ORPHA:2588
HP:0033127	Abnormality of the musculoskeletal system	9321	TRIP11	OMIM:184260
HP:0033127	Abnormality of the musculoskeletal system	5159	PDGFRB	OMIM:601812
HP:0033127	Abnormality of the musculoskeletal system	5139	PDE3A	ORPHA:1276
HP:0033127	Abnormality of the musculoskeletal system	7048	TGFBR2	OMIM:610168
HP:0033127	Abnormality of the musculoskeletal system	8195	MKKS	ORPHA:2473
HP:0033127	Abnormality of the musculoskeletal system	4882	NPR2	ORPHA:40
HP:0033127	Abnormality of the musculoskeletal system	50945	TBX22	ORPHA:921
HP:0033127	Abnormality of the musculoskeletal system	585	BBS4	OMIM:615982
HP:0033127	Abnormality of the musculoskeletal system	129880	BBS5	OMIM:615983
HP:0033127	Abnormality of the musculoskeletal system	27241	BBS9	OMIM:615986
HP:0033127	Abnormality of the musculoskeletal system	196528	ARID2	OMIM:617808
HP:0033127	Abnormality of the musculoskeletal system	55081	IFT57	OMIM:617927
HP:0033127	Abnormality of the musculoskeletal system	6938	TCF12	ORPHA:35099
HP:0033127	Abnormality of the musculoskeletal system	6938	TCF12	OMIM:615314
HP:0033127	Abnormality of the musculoskeletal system	7545	ZIC1	ORPHA:35099
HP:0033127	Abnormality of the musculoskeletal system	92482	BBIP1	OMIM:615995
HP:0033127	Abnormality of the musculoskeletal system	54585	LZTFL1	OMIM:615994
HP:0033127	Abnormality of the musculoskeletal system	23291	FBXW11	OMIM:618914
HP:0033127	Abnormality of the musculoskeletal system	5053	PAH	ORPHA:2209
HP:0033127	Abnormality of the musculoskeletal system	101929726	MYMX	ORPHA:1358
HP:0033127	Abnormality of the musculoskeletal system	114548	NLRP3	ORPHA:1451
HP:0033127	Abnormality of the musculoskeletal system	9419	CRIPT	OMIM:615789
HP:0033127	Abnormality of the musculoskeletal system	9361	LONP1	ORPHA:1458
HP:0033127	Abnormality of the musculoskeletal system	8092	ALX1	ORPHA:306542
HP:0033127	Abnormality of the musculoskeletal system	54361	WNT4	ORPHA:247768
HP:0033127	Abnormality of the musculoskeletal system	55617	TASP1	OMIM:618950
HP:0033127	Abnormality of the musculoskeletal system	5744	PTHLH	OMIM:613382
HP:0033127	Abnormality of the musculoskeletal system	113246	C12orf57	OMIM:218340
HP:0033127	Abnormality of the musculoskeletal system	5331	PLCB3	OMIM:618961
HP:0033127	Abnormality of the musculoskeletal system	387	RHOA	OMIM:618727
HP:0033127	Abnormality of the musculoskeletal system	10210	TOPORS	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	5147	PDE6D	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	317662	FAM149B1	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	23404	EXOSC2	OMIM:617763
HP:0033127	Abnormality of the musculoskeletal system	406932	MIR140	OMIM:618618
HP:0033127	Abnormality of the musculoskeletal system	25871	NEPRO	OMIM:618853
HP:0033127	Abnormality of the musculoskeletal system	255758	DYNLT2B	OMIM:617405
HP:0033127	Abnormality of the musculoskeletal system	5604	MAP2K1	OMIM:163950
HP:0033127	Abnormality of the musculoskeletal system	50964	SOST	OMIM:269500
HP:0033127	Abnormality of the musculoskeletal system	84529	CDIN1	OMIM:615631
HP:0033127	Abnormality of the musculoskeletal system	7681	MKRN3	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	3653	IPW	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	791114	PWRN1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	100033413	SNORD116-1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	8924	HERC2	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	145624	PWAR1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	23742	NPAP1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	338433	SNORD115-1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	1723	DHODH	OMIM:263750
HP:0033127	Abnormality of the musculoskeletal system	4552	MTRR	ORPHA:2169
HP:0033127	Abnormality of the musculoskeletal system	2192	FBLN1	ORPHA:404451
HP:0033127	Abnormality of the musculoskeletal system	8913	CACNA1G	OMIM:618087
HP:0033127	Abnormality of the musculoskeletal system	50814	NSDHL	OMIM:308050
HP:0033127	Abnormality of the musculoskeletal system	23389	MED13L	ORPHA:369891
HP:0033127	Abnormality of the musculoskeletal system	8550	MAPKAPK5	OMIM:619869
HP:0033127	Abnormality of the musculoskeletal system	79633	FAT4	OMIM:616006
HP:0033127	Abnormality of the musculoskeletal system	79633	FAT4	ORPHA:314679
HP:0033127	Abnormality of the musculoskeletal system	29957	SLC25A24	OMIM:612289
HP:0033127	Abnormality of the musculoskeletal system	4659	PPP1R12A	OMIM:618820
HP:0033127	Abnormality of the musculoskeletal system	6305	SBF1	OMIM:615284
HP:0033127	Abnormality of the musculoskeletal system	8642	DCHS1	ORPHA:314679
HP:0033127	Abnormality of the musculoskeletal system	79989	IFT56	OMIM:619534
HP:0033127	Abnormality of the musculoskeletal system	775	CACNA1C	OMIM:618447
HP:0033127	Abnormality of the musculoskeletal system	8831	SYNGAP1	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	1173	AP2M1	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	6323	SCN1A	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	1106	CHD2	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	6529	SLC6A1	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	3914	LAMB3	OMIM:226700
HP:0033127	Abnormality of the musculoskeletal system	3909	LAMA3	OMIM:226700
HP:0033127	Abnormality of the musculoskeletal system	3918	LAMC2	OMIM:226700
HP:0033127	Abnormality of the musculoskeletal system	54101	RIPK4	OMIM:263650
HP:0033127	Abnormality of the musculoskeletal system	92935	MARS2	OMIM:616430
HP:0033127	Abnormality of the musculoskeletal system	146059	CDAN1	OMIM:224120
HP:0033127	Abnormality of the musculoskeletal system	4038	LRP4	OMIM:212780
HP:0033127	Abnormality of the musculoskeletal system	54806	AHI1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	54806	AHI1	ORPHA:220493
HP:0033127	Abnormality of the musculoskeletal system	200894	ARL13B	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	9731	CEP104	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	23247	KATNIP	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	219854	TMEM218	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	95681	CEP41	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	95681	CEP41	ORPHA:220493
HP:0033127	Abnormality of the musculoskeletal system	10464	PIBF1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	23116	TOGARAM1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	25776	CBY1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	403	ARL3	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	10682	EBP	ORPHA:401973
HP:0033127	Abnormality of the musculoskeletal system	5626	PROP1	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	89884	LHX4	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	8022	LHX3	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	5449	POU1F1	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	8820	HESX1	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	51	ACOX1	ORPHA:2971
HP:0033127	Abnormality of the musculoskeletal system	7547	ZIC3	OMIM:314390
HP:0033127	Abnormality of the musculoskeletal system	26154	ABCA12	ORPHA:457
HP:0033127	Abnormality of the musculoskeletal system	8241	RBM10	ORPHA:2886
HP:0033127	Abnormality of the musculoskeletal system	51524	TMEM138	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	23090	ZNF423	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	5566	PRKACA	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	2313	FLI1	ORPHA:2308
HP:0033127	Abnormality of the musculoskeletal system	6309	SC5D	ORPHA:46059
HP:0033127	Abnormality of the musculoskeletal system	6309	SC5D	OMIM:607330
HP:0033127	Abnormality of the musculoskeletal system	894	CCND2	ORPHA:83473
HP:0033127	Abnormality of the musculoskeletal system	894	CCND2	OMIM:615938
HP:0033127	Abnormality of the musculoskeletal system	5296	PIK3R2	ORPHA:83473
HP:0033127	Abnormality of the musculoskeletal system	10000	AKT3	ORPHA:83473
HP:0033127	Abnormality of the musculoskeletal system	10000	AKT3	OMIM:615937
HP:0033127	Abnormality of the musculoskeletal system	56623	INPP5E	OMIM:213300
HP:0033127	Abnormality of the musculoskeletal system	56623	INPP5E	ORPHA:1454
HP:0033127	Abnormality of the musculoskeletal system	55593	OTUD5	OMIM:301056
HP:0033127	Abnormality of the musculoskeletal system	83479	DDX59	OMIM:174300
HP:0033127	Abnormality of the musculoskeletal system	83479	DDX59	ORPHA:2919
HP:0033127	Abnormality of the musculoskeletal system	51057	WDPCP	OMIM:217085
HP:0033127	Abnormality of the musculoskeletal system	51057	WDPCP	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	285600	KIAA0825	OMIM:618498
HP:0033127	Abnormality of the musculoskeletal system	26005	C2CD3	OMIM:615948
HP:0033127	Abnormality of the musculoskeletal system	26005	C2CD3	ORPHA:434179
HP:0033127	Abnormality of the musculoskeletal system	26040	SETBP1	OMIM:269150
HP:0033127	Abnormality of the musculoskeletal system	11020	IFT27	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	49855	SCAPER	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	4867	NPHP1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	84984	CEP19	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	22954	TRIM32	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	79738	BBS10	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	123016	TTC8	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	583	BBS2	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	583	BBS2	OMIM:615981
HP:0033127	Abnormality of the musculoskeletal system	55212	BBS7	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	166379	BBS12	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	166379	BBS12	OMIM:615989
HP:0033127	Abnormality of the musculoskeletal system	10806	SDCCAG8	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	157657	CFAP418	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	157657	CFAP418	OMIM:617406
HP:0033127	Abnormality of the musculoskeletal system	80173	IFT74	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	79005	SCNM1	OMIM:620107
HP:0033127	Abnormality of the musculoskeletal system	2736	GLI2	OMIM:610829
HP:0033127	Abnormality of the musculoskeletal system	51360	MBTPS2	OMIM:308205
HP:0033127	Abnormality of the musculoskeletal system	51360	MBTPS2	ORPHA:85284
HP:0033127	Abnormality of the musculoskeletal system	80210	ARMC9	OMIM:617622
HP:0033127	Abnormality of the musculoskeletal system	23288	IQCE	OMIM:617642
HP:0033127	Abnormality of the musculoskeletal system	137392	CIBAR1	OMIM:618219
HP:0033127	Abnormality of the musculoskeletal system	7700	ZNF141	OMIM:615226
HP:0033127	Abnormality of the musculoskeletal system	4088	SMAD3	ORPHA:284984
HP:0033127	Abnormality of the musculoskeletal system	4088	SMAD3	OMIM:613795
HP:0033127	Abnormality of the musculoskeletal system	4088	SMAD3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	875	CBS	ORPHA:394
HP:0033127	Abnormality of the musculoskeletal system	875	CBS	OMIM:236200
HP:0033127	Abnormality of the musculoskeletal system	25970	SH2B1	ORPHA:261222
HP:0033127	Abnormality of the musculoskeletal system	199857	ALG14	OMIM:619036
HP:0033127	Abnormality of the musculoskeletal system	8925	HERC1	OMIM:617011
HP:0033127	Abnormality of the musculoskeletal system	8925	HERC1	ORPHA:457359
HP:0033127	Abnormality of the musculoskeletal system	1075	CTSC	OMIM:245010
HP:0033127	Abnormality of the musculoskeletal system	1075	CTSC	ORPHA:678
HP:0033127	Abnormality of the musculoskeletal system	5351	PLOD1	OMIM:225400
HP:0033127	Abnormality of the musculoskeletal system	8076	MFAP5	OMIM:616166
HP:0033127	Abnormality of the musculoskeletal system	8076	MFAP5	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	80816	ASXL3	OMIM:615485
HP:0033127	Abnormality of the musculoskeletal system	80816	ASXL3	ORPHA:352577
HP:0033127	Abnormality of the musculoskeletal system	72	ACTG2	ORPHA:2604
HP:0033127	Abnormality of the musculoskeletal system	30008	EFEMP2	OMIM:614437
HP:0033127	Abnormality of the musculoskeletal system	79693	YRDC	OMIM:619609
HP:0033127	Abnormality of the musculoskeletal system	1146	CHRNG	OMIM:265000
HP:0033127	Abnormality of the musculoskeletal system	284058	KANSL1	ORPHA:363958
HP:0033127	Abnormality of the musculoskeletal system	284058	KANSL1	ORPHA:363965
HP:0033127	Abnormality of the musculoskeletal system	1272	CNTN1	OMIM:612540
HP:0033127	Abnormality of the musculoskeletal system	29920	PYCR2	ORPHA:481152
HP:0033127	Abnormality of the musculoskeletal system	29920	PYCR2	OMIM:616420
HP:0033127	Abnormality of the musculoskeletal system	1312	COMT	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	221037	JMJD1C	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	2812	GP1BB	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	6239	RREB1	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	7290	HIRA	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	9632	SEC24C	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	7353	UFD1	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	421	ARVCF	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	444	ASPH	OMIM:601552
HP:0033127	Abnormality of the musculoskeletal system	79576	NKAP	OMIM:301039
HP:0033127	Abnormality of the musculoskeletal system	3188	HNRNPH2	OMIM:300986
HP:0033127	Abnormality of the musculoskeletal system	23152	CIC	OMIM:617600
HP:0033127	Abnormality of the musculoskeletal system	649	BMP1	OMIM:614856
HP:0033127	Abnormality of the musculoskeletal system	165	AEBP1	ORPHA:536532
HP:0033127	Abnormality of the musculoskeletal system	11285	B4GALT7	ORPHA:75496
HP:0033127	Abnormality of the musculoskeletal system	11285	B4GALT7	OMIM:130070
HP:0033127	Abnormality of the musculoskeletal system	10526	IPO8	OMIM:619472
HP:0033127	Abnormality of the musculoskeletal system	10526	IPO8	ORPHA:60030
HP:0033127	Abnormality of the musculoskeletal system	4534	MTM1	OMIM:310400
HP:0033127	Abnormality of the musculoskeletal system	5184	PEPD	ORPHA:742
HP:0033127	Abnormality of the musculoskeletal system	715	C1R	OMIM:130080
HP:0033127	Abnormality of the musculoskeletal system	60676	PAPPA2	OMIM:619489
HP:0033127	Abnormality of the musculoskeletal system	1742	DLG4	OMIM:618793
HP:0033127	Abnormality of the musculoskeletal system	6605	SMARCE1	OMIM:616938
HP:0033127	Abnormality of the musculoskeletal system	11107	PRDM5	ORPHA:90354
HP:0033127	Abnormality of the musculoskeletal system	84627	ZNF469	ORPHA:90354
HP:0033127	Abnormality of the musculoskeletal system	4677	NARS1	OMIM:619092
HP:0033127	Abnormality of the musculoskeletal system	6651	SON	ORPHA:500150
HP:0033127	Abnormality of the musculoskeletal system	2193	FARSA	OMIM:619013
HP:0033127	Abnormality of the musculoskeletal system	4087	SMAD2	OMIM:619656
HP:0033127	Abnormality of the musculoskeletal system	4087	SMAD2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	29893	PSMC3IP	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	171568	POLR3H	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	2516	NR5A1	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	125150	ZSWIM7	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	9210	BMP15	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	23514	SPIDR	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	2492	FSHR	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	56945	MRPS22	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	646	BNC1	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	4883	NPR3	OMIM:619543
HP:0033127	Abnormality of the musculoskeletal system	7043	TGFB3	OMIM:615582
HP:0033127	Abnormality of the musculoskeletal system	7043	TGFB3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	7046	TGFBR1	ORPHA:60030
HP:0033127	Abnormality of the musculoskeletal system	7046	TGFBR1	OMIM:609192
HP:0033127	Abnormality of the musculoskeletal system	7046	TGFBR1	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	56603	CYP26B1	OMIM:614416
HP:0033127	Abnormality of the musculoskeletal system	7042	TGFB2	OMIM:614816
HP:0033127	Abnormality of the musculoskeletal system	7042	TGFB2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4629	MYH11	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4015	LOX	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	59	ACTA2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	5592	PRKG1	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	2301	FOXE3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4144	MAT2A	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	23493	HEY2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4638	MYLK	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	1593	CYP27A1	ORPHA:909
HP:0033127	Abnormality of the musculoskeletal system	134218	DNAJC21	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	79631	EFL1	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	51119	SBDS	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	6729	SRP54	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	6926	TBX3	ORPHA:3138
HP:0033127	Abnormality of the musculoskeletal system	64840	PORCN	OMIM:305600
HP:0033127	Abnormality of the musculoskeletal system	64840	PORCN	ORPHA:2092
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	OMIM:118300
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	OMIM:118220
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	ORPHA:90658
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	OMIM:145900
HP:0033127	Abnormality of the musculoskeletal system	6910	TBX5	ORPHA:392
HP:0033127	Abnormality of the musculoskeletal system	3094	HINT1	ORPHA:324442
HP:0033127	Abnormality of the musculoskeletal system	22880	MORC2	OMIM:616688
HP:0033127	Abnormality of the musculoskeletal system	1001	CDH3	OMIM:225280
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	OMIM:604292
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	OMIM:103285
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	OMIM:603543
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	OMIM:605289
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	ORPHA:1896
HP:0033127	Abnormality of the musculoskeletal system	4047	LSS	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	197	AHSG	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	3694	ITGB6	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	79581	SLC52A2	OMIM:614707
HP:0033127	Abnormality of the musculoskeletal system	411	ARSB	OMIM:253200
HP:0033127	Abnormality of the musculoskeletal system	9150	CTDP1	OMIM:604168
HP:0033127	Abnormality of the musculoskeletal system	54332	GDAP1	OMIM:607831
HP:0033127	Abnormality of the musculoskeletal system	54332	GDAP1	ORPHA:101097
HP:0033127	Abnormality of the musculoskeletal system	56704	JPH1	OMIM:607831
HP:0033127	Abnormality of the musculoskeletal system	51776	MAP3K20	OMIM:616890
HP:0033127	Abnormality of the musculoskeletal system	1750	DLX6	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	7979	SEM1	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	8945	BTRC	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	58513	EPS15L1	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	6468	FBXW4	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	7480	WNT10B	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	7480	WNT10B	OMIM:225300
HP:0033127	Abnormality of the musculoskeletal system	1749	DLX5	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	1749	DLX5	OMIM:183600
HP:0033127	Abnormality of the musculoskeletal system	1749	DLX5	OMIM:220600
HP:0033127	Abnormality of the musculoskeletal system	1717	DHCR7	ORPHA:818
HP:0033127	Abnormality of the musculoskeletal system	81846	SBF2	OMIM:604563
HP:0033127	Abnormality of the musculoskeletal system	79158	GNPTAB	OMIM:252500
HP:0033127	Abnormality of the musculoskeletal system	79158	GNPTAB	OMIM:252600
HP:0033127	Abnormality of the musculoskeletal system	3516	RBPJ	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	4851	NOTCH1	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	57514	ARHGAP31	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	57572	DOCK6	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	285203	EOGT	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	54567	DLL4	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	8888	MCM3AP	OMIM:618124
HP:0033127	Abnormality of the musculoskeletal system	4359	MPZ	OMIM:118200
HP:0033127	Abnormality of the musculoskeletal system	4359	MPZ	OMIM:145900
HP:0033127	Abnormality of the musculoskeletal system	3423	IDS	OMIM:309900
HP:0033127	Abnormality of the musculoskeletal system	3664	IRF6	ORPHA:1300
HP:0033127	Abnormality of the musculoskeletal system	374969	SVBP	OMIM:618569
HP:0033127	Abnormality of the musculoskeletal system	3295	HSD17B4	OMIM:261515
HP:0033127	Abnormality of the musculoskeletal system	7476	WNT7A	OMIM:276820
HP:0033127	Abnormality of the musculoskeletal system	1509	CTSD	OMIM:610127
HP:0033127	Abnormality of the musculoskeletal system	64359	NXN	ORPHA:1507
HP:0033127	Abnormality of the musculoskeletal system	4920	ROR2	ORPHA:1507
HP:0033127	Abnormality of the musculoskeletal system	26580	BSCL2	OMIM:270685
HP:0033127	Abnormality of the musculoskeletal system	26580	BSCL2	ORPHA:100998
HP:0033127	Abnormality of the musculoskeletal system	4313	MMP2	OMIM:259600
HP:0033127	Abnormality of the musculoskeletal system	2260	FGFR1	ORPHA:2117
HP:0033127	Abnormality of the musculoskeletal system	10397	NDRG1	ORPHA:99950
HP:0033127	Abnormality of the musculoskeletal system	4747	NEFL	OMIM:617882
HP:0033127	Abnormality of the musculoskeletal system	1959	EGR2	OMIM:145900
HP:0033127	Abnormality of the musculoskeletal system	57716	PRX	OMIM:145900
HP:0033127	Abnormality of the musculoskeletal system	2189	FANCG	OMIM:614082
HP:0033127	Abnormality of the musculoskeletal system	2189	FANCG	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	80207	OPA3	ORPHA:67036
HP:0033127	Abnormality of the musculoskeletal system	9158	FIBP	ORPHA:500095
HP:0033127	Abnormality of the musculoskeletal system	9968	MED12	ORPHA:93932
HP:0033127	Abnormality of the musculoskeletal system	8200	GDF5	ORPHA:2639
HP:0033127	Abnormality of the musculoskeletal system	658	BMPR1B	ORPHA:2639
HP:0033127	Abnormality of the musculoskeletal system	672	BRCA1	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	10459	MAD2L2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	7516	XRCC2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	29089	UBE2T	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	675	BRCA2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	55120	FANCL	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2175	FANCA	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2187	FANCB	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2176	FANCC	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2178	FANCE	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2188	FANCF	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	5888	RAD51	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	5889	RAD51C	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	55159	RFWD3	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	83990	BRIP1	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	57697	FANCM	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	79728	PALB2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	84464	SLX4	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2072	ERCC4	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	55215	FANCI	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	64093	SMOC1	ORPHA:1106
HP:0033127	Abnormality of the musculoskeletal system	2261	FGFR3	OMIM:620192
HP:0033127	Abnormality of the musculoskeletal system	2261	FGFR3	ORPHA:2363
HP:0033127	Abnormality of the musculoskeletal system	23111	SPART	ORPHA:101000
HP:0033127	Abnormality of the musculoskeletal system	25942	SIN3A	ORPHA:94065
HP:0033127	Abnormality of the musculoskeletal system	1193	CLIC2	ORPHA:324410
HP:0033127	Abnormality of the musculoskeletal system	860	RUNX2	ORPHA:1452
HP:0033127	Abnormality of the musculoskeletal system	2255	FGF10	ORPHA:2363
HP:0033127	Abnormality of the musculoskeletal system	6469	SHH	ORPHA:93321
HP:0033127	Abnormality of the musculoskeletal system	57167	SALL4	ORPHA:233
HP:0033127	Abnormality of the musculoskeletal system	57167	SALL4	ORPHA:959
HP:0033127	Abnormality of the musculoskeletal system	57167	SALL4	ORPHA:2307
HP:0033127	Abnormality of the musculoskeletal system	9935	MAFB	ORPHA:233
HP:0033127	Abnormality of the musculoskeletal system	1123	CHN1	ORPHA:233
HP:0033127	Abnormality of the musculoskeletal system	2137	EXTL3	ORPHA:508533
HP:0033127	Abnormality of the musculoskeletal system	22827	PUF60	ORPHA:508498
HP:0033127	Abnormality of the musculoskeletal system	65250	CPLANE1	OMIM:277170
HP:0033127	Abnormality of the musculoskeletal system	6608	SMO	OMIM:601707
HP:0033127	Abnormality of the musculoskeletal system	6608	SMO	ORPHA:1553
HP:0033127	Abnormality of the musculoskeletal system	4750	NEK1	OMIM:263520
HP:0033127	Abnormality of the musculoskeletal system	2737	GLI3	OMIM:175700
HP:0033127	Abnormality of the musculoskeletal system	2737	GLI3	ORPHA:380
HP:0033127	Abnormality of the musculoskeletal system	2737	GLI3	OMIM:174200
HP:0033127	Abnormality of the musculoskeletal system	64327	LMBR1	ORPHA:2378
HP:0033127	Abnormality of the musculoskeletal system	64327	LMBR1	OMIM:174500
HP:0033127	Abnormality of the musculoskeletal system	55027	HEATR3	OMIM:620072
HP:0033127	Abnormality of the musculoskeletal system	6299	SALL1	OMIM:107480
HP:0033127	Abnormality of the musculoskeletal system	6299	SALL1	ORPHA:857
HP:0033127	Abnormality of the musculoskeletal system	55112	DYNC2I1	ORPHA:93271
HP:0033127	Abnormality of the musculoskeletal system	57560	IFT80	ORPHA:93271
HP:0033127	Abnormality of the musculoskeletal system	57539	WDR35	ORPHA:93271
HP:0033127	Abnormality of the musculoskeletal system	79659	DYNC2H1	ORPHA:93271
HP:0033127	Abnormality of the musculoskeletal system	89891	DYNC2I2	ORPHA:93271
HP:0033127	Abnormality of the musculoskeletal system	374879	ZNF699	OMIM:619488
HP:0033127	Abnormality of the musculoskeletal system	374654	KIF7	OMIM:200990
HP:0033127	Abnormality of the musculoskeletal system	8318	CDC45	OMIM:617063
HP:0033127	Abnormality of the musculoskeletal system	51339	DACT1	ORPHA:857
HP:0033127	Abnormality of the musculoskeletal system	2177	FANCD2	OMIM:227646
HP:0033127	Abnormality of the musculoskeletal system	727857	BHLHA9	ORPHA:3329
HP:0033127	Abnormality of the musculoskeletal system	23133	PHF8	ORPHA:85287
HP:0033127	Abnormality of the musculoskeletal system	8481	OFD1	ORPHA:2750
HP:0033127	Abnormality of the musculoskeletal system	219844	HYLS1	OMIM:236680
HP:0033127	Abnormality of the musculoskeletal system	26123	TCTN3	ORPHA:2753
HP:0033127	Abnormality of the musculoskeletal system	26123	TCTN3	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	2697	GJA1	ORPHA:2710
HP:0033127	Abnormality of the musculoskeletal system	3239	HOXD13	ORPHA:887
HP:0033127	Abnormality of the musculoskeletal system	7020	TFAP2A	OMIM:113620
HP:0033127	Abnormality of the musculoskeletal system	7020	TFAP2A	ORPHA:1297
HP:0033127	Abnormality of the musculoskeletal system	84314	TMEM107	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79867	TCTN2	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	80776	B9D2	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79600	TCTN1	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	57096	RPGRIP1	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79848	CSPP1	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	80184	CEP290	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	51259	TMEM216	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	57545	CC2D2A	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79583	TMEM231	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	91147	TMEM67	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79770	TXNDC15	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	27077	B9D1	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	23322	RPGRIP1L	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	54903	MKS1	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	65062	TMEM237	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	10815	CPLX1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	10815	CPLX1	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	54872	PIGG	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	7469	NELFA	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	1487	CTBP1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	1487	CTBP1	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	3954	LETM1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	3954	LETM1	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	7468	NSD2	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	7468	NSD2	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	2735	GLI1	OMIM:174400
HP:0033127	Abnormality of the musculoskeletal system	53834	FGFRL1	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	9343	EFTUD2	OMIM:610536
HP:0033127	Abnormality of the musculoskeletal system	9343	EFTUD2	ORPHA:79113
HP:0033127	Abnormality of the musculoskeletal system	2263	FGFR2	OMIM:101200
HP:0033127	Abnormality of the musculoskeletal system	157570	ESCO2	OMIM:268300
HP:0033127	Abnormality of the musculoskeletal system	9401	RECQL4	ORPHA:1225
HP:0033127	Abnormality of the musculoskeletal system	25836	NIPBL	OMIM:122470
HP:0033127	Abnormality of the musculoskeletal system	6154	RPL26	OMIM:614900
HP:0033127	Abnormality of the musculoskeletal system	10262	SF3B4	ORPHA:1788
HP:0033127	Abnormality of the musculoskeletal system	1802	DPH2	OMIM:620062
HP:0033127	Abnormality of the musculoskeletal system	91949	COG7	OMIM:608779
HP:0033127	Abnormality of the musculoskeletal system	91949	COG7	ORPHA:79333
HP:0033127	Abnormality of the musculoskeletal system	27238	GPKOW	ORPHA:2570
HP:0033127	Abnormality of the musculoskeletal system	23141	ANKLE2	OMIM:616681
HP:0033127	Abnormality of the musculoskeletal system	29895	MYL11	OMIM:619110
HP:0033127	Abnormality of the musculoskeletal system	5393	EXOSC9	OMIM:618065
HP:0033127	Abnormality of the musculoskeletal system	1861	TOR1A	OMIM:618947
HP:0033127	Abnormality of the musculoskeletal system	55627	SMPD4	OMIM:618622
HP:0033127	Abnormality of the musculoskeletal system	6804	STX1A	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	7461	CLIP2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	84277	DNAJC30	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	8468	FKBP6	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	5982	RFC2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	2969	GTF2I	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	3984	LIMK1	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	9569	GTF2IRD1	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	155382	VPS37D	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	155368	METTL27	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	114049	BUD23	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	7458	EIF4H	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	84163	GTF2IRD2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	9275	BCL7B	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	26608	TBL2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	653361	NCF1	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	135886	TMEM270	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	51085	MLXIPL	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	9031	BAZ1B	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	2006	ELN	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	2006	ELN	ORPHA:90348
HP:0033127	Abnormality of the musculoskeletal system	5832	ALDH18A1	OMIM:616603
HP:0033127	Abnormality of the musculoskeletal system	5832	ALDH18A1	OMIM:219150
HP:0033127	Abnormality of the musculoskeletal system	5832	ALDH18A1	ORPHA:90348
HP:0033127	Abnormality of the musculoskeletal system	347734	SLC35B2	OMIM:620269
HP:0033127	Abnormality of the musculoskeletal system	23345	SYNE1	ORPHA:319332
HP:0033127	Abnormality of the musculoskeletal system	23345	SYNE1	OMIM:618484
HP:0033127	Abnormality of the musculoskeletal system	84992	PIGY	OMIM:616809
HP:0033127	Abnormality of the musculoskeletal system	1291	COL6A1	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	1292	COL6A2	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	1293	COL6A3	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	9839	ZEB2	ORPHA:261537
HP:0033127	Abnormality of the musculoskeletal system	9839	ZEB2	ORPHA:261552
HP:0033127	Abnormality of the musculoskeletal system	215	ABCD1	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	5979	RET	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	2668	GDNF	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	6720	SREBF1	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	1908	EDN3	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	223117	SEMA3D	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	538	ATP7A	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	1910	EDNRB	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	10512	SEMA3C	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	2064	ERBB2	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	2065	ERBB3	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	4902	NRTN	ORPHA:388
HP:0033127	Abnormality of the musculoskeletal system	10479	SLC9A6	OMIM:300243
HP:0033127	Abnormality of the musculoskeletal system	10479	SLC9A6	ORPHA:85278
HP:0033127	Abnormality of the musculoskeletal system	91754	NEK9	OMIM:617022
HP:0033127	Abnormality of the musculoskeletal system	5649	RELN	ORPHA:89844
HP:0033127	Abnormality of the musculoskeletal system	54820	NDE1	ORPHA:89844
HP:0033127	Abnormality of the musculoskeletal system	6472	SHMT2	OMIM:619121
HP:0033127	Abnormality of the musculoskeletal system	58	ACTA1	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	4703	NEB	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	4703	NEB	OMIM:619334
HP:0033127	Abnormality of the musculoskeletal system	131377	KLHL40	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	10324	KLHL41	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	56203	LMOD3	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	26227	PHGDH	OMIM:601815
HP:0033127	Abnormality of the musculoskeletal system	26227	PHGDH	ORPHA:79351
HP:0033127	Abnormality of the musculoskeletal system	84162	BLTP1	OMIM:617822
HP:0033127	Abnormality of the musculoskeletal system	202018	TAPT1	OMIM:616897
HP:0033127	Abnormality of the musculoskeletal system	2201	FBN2	OMIM:121050
HP:0033127	Abnormality of the musculoskeletal system	91869	RFT1	OMIM:612015
HP:0033127	Abnormality of the musculoskeletal system	2033	EP300	ORPHA:353284
HP:0033127	Abnormality of the musculoskeletal system	4621	MYH3	OMIM:618436
HP:0033127	Abnormality of the musculoskeletal system	4621	MYH3	OMIM:193700
HP:0033127	Abnormality of the musculoskeletal system	4621	MYH3	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	4621	MYH3	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	3897	L1CAM	ORPHA:306617
HP:0033127	Abnormality of the musculoskeletal system	3897	L1CAM	OMIM:303350
HP:0033127	Abnormality of the musculoskeletal system	3897	L1CAM	OMIM:307000
HP:0033127	Abnormality of the musculoskeletal system	3897	L1CAM	ORPHA:2182
HP:0033127	Abnormality of the musculoskeletal system	388015	RTL1	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	8788	DLK1	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	55384	MEG3	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	2067	ERCC1	OMIM:610758
HP:0033127	Abnormality of the musculoskeletal system	9179	AP4M1	OMIM:612936
HP:0033127	Abnormality of the musculoskeletal system	7169	TPM2	OMIM:108120
HP:0033127	Abnormality of the musculoskeletal system	7169	TPM2	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	7169	TPM2	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	126792	B3GALT6	ORPHA:536467
HP:0033127	Abnormality of the musculoskeletal system	50515	CHST11	OMIM:618167
HP:0033127	Abnormality of the musculoskeletal system	79868	ALG13	ORPHA:324422
HP:0033127	Abnormality of the musculoskeletal system	259232	NALCN	OMIM:616266
HP:0033127	Abnormality of the musculoskeletal system	259232	NALCN	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	259232	NALCN	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	23483	TGDS	OMIM:616145
HP:0033127	Abnormality of the musculoskeletal system	729920	CRPPA	OMIM:614643
HP:0033127	Abnormality of the musculoskeletal system	7136	TNNI2	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	7136	TNNI2	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	10273	STUB1	ORPHA:412057
HP:0033127	Abnormality of the musculoskeletal system	1387	CREBBP	ORPHA:353277
HP:0033127	Abnormality of the musculoskeletal system	4604	MYBPC1	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	10516	FBLN5	ORPHA:90348
HP:0033127	Abnormality of the musculoskeletal system	81857	MED25	ORPHA:464738
HP:0033127	Abnormality of the musculoskeletal system	57211	ADGRG6	OMIM:616503
HP:0033127	Abnormality of the musculoskeletal system	9939	RBM8A	ORPHA:3320
HP:0033127	Abnormality of the musculoskeletal system	9939	RBM8A	OMIM:274000
HP:0033127	Abnormality of the musculoskeletal system	23299	BICD2	OMIM:618291
HP:0033127	Abnormality of the musculoskeletal system	10195	ALG3	OMIM:601110
HP:0033127	Abnormality of the musculoskeletal system	10943	MSL3	OMIM:301032
HP:0033127	Abnormality of the musculoskeletal system	3977	LIFR	OMIM:601559
HP:0033127	Abnormality of the musculoskeletal system	9427	ECEL1	OMIM:615065
HP:0033127	Abnormality of the musculoskeletal system	6999	TDO2	OMIM:600627
HP:0033127	Abnormality of the musculoskeletal system	84896	ATAD1	OMIM:618011
HP:0033127	Abnormality of the musculoskeletal system	2036	EPB41L1	OMIM:614257
HP:0033127	Abnormality of the musculoskeletal system	51002	TPRKB	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	84942	WDR73	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	55644	OSGEP	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	57122	NUP107	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	10785	WDR4	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	55746	NUP133	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	8270	LAGE3	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	8367	H4C5	OMIM:619950
HP:0033127	Abnormality of the musculoskeletal system	9853	RUSC2	OMIM:617773
HP:0033127	Abnormality of the musculoskeletal system	23019	CNOT1	OMIM:619033
HP:0033127	Abnormality of the musculoskeletal system	26128	KIFBP	OMIM:609460
HP:0033127	Abnormality of the musculoskeletal system	2972	BRF1	OMIM:616202
HP:0033127	Abnormality of the musculoskeletal system	2972	BRF1	ORPHA:444072
HP:0033127	Abnormality of the musculoskeletal system	56916	SMARCAD1	OMIM:129200
HP:0033127	Abnormality of the musculoskeletal system	56916	SMARCAD1	OMIM:181600
HP:0033127	Abnormality of the musculoskeletal system	9578	CDC42BPB	OMIM:619841
HP:0033127	Abnormality of the musculoskeletal system	3020	H3-3A	OMIM:619720
HP:0033127	Abnormality of the musculoskeletal system	170302	ARX	OMIM:300004
HP:0033127	Abnormality of the musculoskeletal system	3021	H3-3B	OMIM:619721
HP:0033127	Abnormality of the musculoskeletal system	10300	KATNB1	OMIM:616212
HP:0033127	Abnormality of the musculoskeletal system	2624	GATA2	OMIM:614038
HP:0033127	Abnormality of the musculoskeletal system	55904	KMT2E	OMIM:618512
HP:0033127	Abnormality of the musculoskeletal system	10978	CLP1	OMIM:615803
HP:0033127	Abnormality of the musculoskeletal system	55650	PIGV	OMIM:239300
HP:0033127	Abnormality of the musculoskeletal system	6335	SCN9A	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	65125	WNK1	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	54463	RETREG1	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	547	KIF1A	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	547	KIF1A	ORPHA:2836
HP:0033127	Abnormality of the musculoskeletal system	6595	SMARCA2	OMIM:619293
HP:0033127	Abnormality of the musculoskeletal system	80204	FBXO11	OMIM:618089
HP:0033127	Abnormality of the musculoskeletal system	113189	CHST14	ORPHA:2953
HP:0033127	Abnormality of the musculoskeletal system	29940	DSE	ORPHA:2953
HP:0033127	Abnormality of the musculoskeletal system	1889	ECE1	OMIM:613870
HP:0033127	Abnormality of the musculoskeletal system	9326	ZNHIT3	ORPHA:2836
HP:0033127	Abnormality of the musculoskeletal system	9326	ZNHIT3	OMIM:260565
HP:0033127	Abnormality of the musculoskeletal system	2770	GNAI1	OMIM:619854
HP:0033127	Abnormality of the musculoskeletal system	83550	GPR101	ORPHA:963
HP:0033127	Abnormality of the musculoskeletal system	9049	AIP	ORPHA:963
HP:0033127	Abnormality of the musculoskeletal system	157680	VPS13B	OMIM:216550
HP:0033127	Abnormality of the musculoskeletal system	157680	VPS13B	ORPHA:193
HP:0033127	Abnormality of the musculoskeletal system	2626	GATA4	ORPHA:251071
HP:0033127	Abnormality of the musculoskeletal system	84823	LMNB2	OMIM:619180
HP:0033127	Abnormality of the musculoskeletal system	9896	FIG4	ORPHA:3472
HP:0033127	Abnormality of the musculoskeletal system	9896	FIG4	OMIM:216340
HP:0033127	Abnormality of the musculoskeletal system	55697	VAC14	ORPHA:3472
HP:0033127	Abnormality of the musculoskeletal system	1656	DDX6	OMIM:618653
HP:0033127	Abnormality of the musculoskeletal system	4297	KMT2A	ORPHA:319182
HP:0033127	Abnormality of the musculoskeletal system	4297	KMT2A	OMIM:605130
HP:0033127	Abnormality of the musculoskeletal system	57178	ZMIZ1	OMIM:618659
HP:0033127	Abnormality of the musculoskeletal system	6792	CDKL5	OMIM:300672
HP:0033127	Abnormality of the musculoskeletal system	7025	NR2F1	ORPHA:401777
HP:0033127	Abnormality of the musculoskeletal system	7025	NR2F1	OMIM:615722
HP:0033127	Abnormality of the musculoskeletal system	253738	EBF3	OMIM:617330
HP:0033127	Abnormality of the musculoskeletal system	55699	IARS2	OMIM:616007
HP:0033127	Abnormality of the musculoskeletal system	8239	USP9X	ORPHA:480880
HP:0033127	Abnormality of the musculoskeletal system	8239	USP9X	OMIM:300968
HP:0033127	Abnormality of the musculoskeletal system	285175	UNC80	OMIM:616801
HP:0033127	Abnormality of the musculoskeletal system	79753	SNIP1	OMIM:614501
HP:0033127	Abnormality of the musculoskeletal system	6134	RPL10	ORPHA:459070
HP:0033127	Abnormality of the musculoskeletal system	6134	RPL10	OMIM:300998
HP:0033127	Abnormality of the musculoskeletal system	6134	RPL10	ORPHA:435938
HP:0033127	Abnormality of the musculoskeletal system	1859	DYRK1A	ORPHA:464311
HP:0033127	Abnormality of the musculoskeletal system	1859	DYRK1A	ORPHA:268261
HP:0033127	Abnormality of the musculoskeletal system	1303	COL12A1	ORPHA:536516
HP:0033127	Abnormality of the musculoskeletal system	51611	DPH5	OMIM:620070
HP:0033127	Abnormality of the musculoskeletal system	79813	EHMT1	ORPHA:261652
HP:0033127	Abnormality of the musculoskeletal system	58508	KMT2C	ORPHA:261652
HP:0033127	Abnormality of the musculoskeletal system	4094	MAF	ORPHA:1272
HP:0033127	Abnormality of the musculoskeletal system	4094	MAF	OMIM:601088
HP:0033127	Abnormality of the musculoskeletal system	7750	ZMYM2	OMIM:619522
HP:0033127	Abnormality of the musculoskeletal system	5594	MAPK1	OMIM:619087
HP:0033127	Abnormality of the musculoskeletal system	4849	CNOT3	OMIM:618672
HP:0033127	Abnormality of the musculoskeletal system	6942	TCF20	OMIM:618430
HP:0033127	Abnormality of the musculoskeletal system	81887	LAS1L	ORPHA:3459
HP:0033127	Abnormality of the musculoskeletal system	81887	LAS1L	OMIM:309585
HP:0033127	Abnormality of the musculoskeletal system	55869	HDAC8	ORPHA:3459
HP:0033127	Abnormality of the musculoskeletal system	7140	TNNT3	OMIM:618435
HP:0033127	Abnormality of the musculoskeletal system	6925	TCF4	OMIM:610954
HP:0033127	Abnormality of the musculoskeletal system	6925	TCF4	ORPHA:2896
HP:0033127	Abnormality of the musculoskeletal system	7030	TFE3	OMIM:301066
HP:0033127	Abnormality of the musculoskeletal system	546	ATRX	OMIM:309580
HP:0033127	Abnormality of the musculoskeletal system	546	ATRX	OMIM:301040
HP:0033127	Abnormality of the musculoskeletal system	84295	PHF6	ORPHA:127
HP:0033127	Abnormality of the musculoskeletal system	84295	PHF6	OMIM:301900
HP:0033127	Abnormality of the musculoskeletal system	91252	SLC39A13	ORPHA:157965
HP:0033127	Abnormality of the musculoskeletal system	91252	SLC39A13	OMIM:612350
HP:0033127	Abnormality of the musculoskeletal system	171023	ASXL1	OMIM:605039
HP:0033127	Abnormality of the musculoskeletal system	55023	PHIP	ORPHA:589905
HP:0033127	Abnormality of the musculoskeletal system	55023	PHIP	OMIM:617991
HP:0033127	Abnormality of the musculoskeletal system	22907	DHX30	OMIM:617804
HP:0033127	Abnormality of the musculoskeletal system	9230	RAB11B	OMIM:617807
HP:0033127	Abnormality of the musculoskeletal system	5277	PIGA	OMIM:301072
HP:0033127	Abnormality of the musculoskeletal system	389827	MYMK	OMIM:254940
HP:0033127	Abnormality of the musculoskeletal system	10075	HUWE1	OMIM:309590
HP:0033127	Abnormality of the musculoskeletal system	9488	PIGB	OMIM:618580
HP:0033127	Abnormality of the musculoskeletal system	8243	SMC1A	OMIM:301044
HP:0033127	Abnormality of the musculoskeletal system	23013	SPEN	OMIM:619312
HP:0033127	Abnormality of the musculoskeletal system	56896	DPYSL5	OMIM:619435
HP:0033127	Abnormality of the musculoskeletal system	9698	PUM1	OMIM:617931
HP:0033127	Abnormality of the musculoskeletal system	23394	ADNP	OMIM:615873
HP:0033127	Abnormality of the musculoskeletal system	23028	KDM1A	OMIM:616728
HP:0033127	Abnormality of the musculoskeletal system	23028	KDM1A	ORPHA:477993
HP:0033127	Abnormality of the musculoskeletal system	5575	PRKAR1B	OMIM:619680
HP:0033127	Abnormality of the musculoskeletal system	91179	SCARF2	OMIM:600920
HP:0033127	Abnormality of the musculoskeletal system	6492	SIM1	ORPHA:171829
HP:0033127	Abnormality of the musculoskeletal system	2782	GNB1	OMIM:616973
HP:0033127	Abnormality of the musculoskeletal system	4953	ODC1	ORPHA:544488
HP:0033127	Abnormality of the musculoskeletal system	998	CDC42	OMIM:616737
HP:0033127	Abnormality of the musculoskeletal system	998	CDC42	ORPHA:487796
HP:0033127	Abnormality of the musculoskeletal system	3097	HIVEP2	OMIM:616977
HP:0033127	Abnormality of the musculoskeletal system	10982	MAPRE2	OMIM:616734
HP:0033127	Abnormality of the musculoskeletal system	4131	MAP1B	OMIM:618918
HP:0033127	Abnormality of the musculoskeletal system	56915	EXOSC5	OMIM:619576
HP:0033127	Abnormality of the musculoskeletal system	10588	MTHFS	OMIM:618367
HP:0033127	Abnormality of the musculoskeletal system	63035	BCORL1	OMIM:301029
HP:0033127	Abnormality of the musculoskeletal system	10265	IRX5	OMIM:611174
HP:0033127	Abnormality of the musculoskeletal system	1108	CHD4	OMIM:617159
HP:0033127	Abnormality of the musculoskeletal system	91137	SLC25A46	OMIM:616505
HP:0033127	Abnormality of the musculoskeletal system	8604	SLC25A12	OMIM:612949
HP:0033127	Abnormality of the musculoskeletal system	7703	PCGF2	OMIM:618371
HP:0033127	Abnormality of the musculoskeletal system	83696	TRAPPC9	ORPHA:352530
HP:0033127	Abnormality of the musculoskeletal system	92949	ADAMTSL1	ORPHA:521445
HP:0033127	Abnormality of the musculoskeletal system	54551	MAGEL2	OMIM:615547
HP:0033127	Abnormality of the musculoskeletal system	2707	GJB3	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	2531	KDSR	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	127534	GJB4	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	9244	CRLF1	OMIM:272430
HP:0033127	Abnormality of the musculoskeletal system	8812	CCNK	OMIM:618147
HP:0033127	Abnormality of the musculoskeletal system	112858	TP53RK	OMIM:617730
HP:0033127	Abnormality of the musculoskeletal system	7204	TRIO	OMIM:618825
HP:0033127	Abnormality of the musculoskeletal system	7204	TRIO	OMIM:617061
HP:0033127	Abnormality of the musculoskeletal system	7204	TRIO	ORPHA:476126
HP:0033127	Abnormality of the musculoskeletal system	9894	TELO2	ORPHA:488642
HP:0033127	Abnormality of the musculoskeletal system	80036	TRPM3	OMIM:620224
HP:0033127	Abnormality of the musculoskeletal system	8936	WASF1	OMIM:618707
HP:0033127	Abnormality of the musculoskeletal system	8405	SPOP	OMIM:618829
HP:0033127	Abnormality of the musculoskeletal system	23630	KCNE5	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	2182	ACSL4	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	9949	AMMECR1	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	11198	SUPT16H	OMIM:619480
HP:0033127	Abnormality of the musculoskeletal system	23556	PIGN	ORPHA:280633
HP:0033127	Abnormality of the musculoskeletal system	23067	SETD1B	OMIM:619000
HP:0033127	Abnormality of the musculoskeletal system	23233	EXOC6B	OMIM:618395
HP:0033127	Abnormality of the musculoskeletal system	5075	PAX1	OMIM:615560
HP:0033127	Abnormality of the musculoskeletal system	55704	CCDC88A	OMIM:617507
HP:0033127	Abnormality of the musculoskeletal system	1376	CPT2	OMIM:608836
HP:0033127	Abnormality of the musculoskeletal system	8242	KDM5C	ORPHA:85279
HP:0033127	Abnormality of the musculoskeletal system	1315	COPB1	OMIM:619255
HP:0033127	Abnormality of the musculoskeletal system	51317	PHF21A	OMIM:618725
HP:0033127	Abnormality of the musculoskeletal system	1968	EIF2S3	ORPHA:85282
HP:0033127	Abnormality of the musculoskeletal system	5557	PRIM1	OMIM:620005
HP:0033127	Abnormality of the musculoskeletal system	1795	DOCK3	OMIM:618292
HP:0033127	Abnormality of the musculoskeletal system	3636	INPPL1	ORPHA:2746
HP:0033127	Abnormality of the musculoskeletal system	4654	MYOD1	OMIM:618975
HP:0033127	Abnormality of the musculoskeletal system	11342	RNF13	ORPHA:544503
HP:0033127	Abnormality of the musculoskeletal system	9990	SLC12A6	OMIM:218000
HP:0033127	Abnormality of the musculoskeletal system	6197	RPS6KA3	OMIM:303600
HP:0033127	Abnormality of the musculoskeletal system	9791	PTDSS1	OMIM:151050
HP:0033127	Abnormality of the musculoskeletal system	2245	FGD1	OMIM:305400
HP:0033127	Abnormality of the musculoskeletal system	9759	HDAC4	OMIM:619797
HP:0033127	Abnormality of the musculoskeletal system	3756	KCNH1	OMIM:135500
HP:0033127	Abnormality of the musculoskeletal system	57479	PRR12	OMIM:619539
HP:0033127	Abnormality of the musculoskeletal system	6611	SMS	OMIM:309583
HP:0033127	Abnormality of the musculoskeletal system	673	BRAF	OMIM:115150
HP:0033127	Abnormality of the musculoskeletal system	91461	PKDCC	OMIM:618821
HP:0033127	Abnormality of the musculoskeletal system	92344	GORAB	OMIM:231070
HP:0033127	Abnormality of the musculoskeletal system	54499	TMCO1	OMIM:213980
HP:0033127	Abnormality of the musculoskeletal system	387733	IFITM5	OMIM:610967
HP:0033127	Abnormality of the musculoskeletal system	51633	OTUD6B	ORPHA:505237
HP:0033127	Abnormality of the musculoskeletal system	23114	NFASC	OMIM:618356
HP:0033127	Abnormality of the musculoskeletal system	1289	COL5A1	OMIM:130000
HP:0033127	Abnormality of the musculoskeletal system	1278	COL1A2	OMIM:617821
HP:0033127	Abnormality of the musculoskeletal system	427	ASAH1	OMIM:228000
HP:0033127	Abnormality of the musculoskeletal system	9373	PLAA	ORPHA:521426
HP:0033127	Abnormality of the musculoskeletal system	2783	GNB2	OMIM:619503
HP:0033127	Abnormality of the musculoskeletal system	3265	HRAS	OMIM:218040
HP:0033127	Abnormality of the musculoskeletal system	2200	FBN1	OMIM:616914
HP:0033127	Abnormality of the musculoskeletal system	121340	SP7	OMIM:613849
HP:0033127	Abnormality of the musculoskeletal system	3782	KCNN3	OMIM:618658
HP:0033127	Abnormality of the musculoskeletal system	94	ACVRL1	OMIM:600376
HP:0033127	Abnormality of the musculoskeletal system	6340	SCNN1G	ORPHA:60033
HP:0033127	Abnormality of the musculoskeletal system	1080	CFTR	ORPHA:60033
HP:0033127	Abnormality of the musculoskeletal system	6337	SCNN1A	ORPHA:60033
HP:0033127	Abnormality of the musculoskeletal system	6338	SCNN1B	ORPHA:60033
HP:0033127	Abnormality of the musculoskeletal system	2022	ENG	OMIM:187300
HP:0033127	Abnormality of the musculoskeletal system	653509	SFTPA1	OMIM:619611
HP:0033127	Abnormality of the musculoskeletal system	6794	STK11	OMIM:175200
HP:0033127	Abnormality of the musculoskeletal system	3858	KRT10	OMIM:609165
HP:0033127	Abnormality of the musculoskeletal system	25981	DNAH1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	115948	ODAD3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54768	HYDIN	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	352909	DNAAF3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	27148	STK36	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	51314	NME8	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	92749	DRC1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54970	TTC12	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	152110	NEK10	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	2302	FOXJ1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	221421	RSPH9	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	85478	CCDC65	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55036	CCDC40	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	51364	ZMYND10	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	64446	DNAI2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	6674	SPAG1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83544	DNAL1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	89765	RSPH1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83538	ODAD4	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	200373	CFAP221	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	374407	DNAJB13	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55172	DNAAF2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	161582	DNAAF4	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	2622	GAS8	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	23639	DNAAF11	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	27019	DNAI1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	345895	RSPH4A	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54919	DNAAF5	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	6103	RPGR	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	388389	CCDC103	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	93233	ODAD1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55130	ODAD2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	1767	DNAH5	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83861	RSPH3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	345643	MCIDAS	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	56683	CFAP298	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	79925	SPEF2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	10309	CCNO	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	115399	LRRC56	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	139212	DNAAF6	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	123872	DNAAF1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	85016	CFAP300	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	339829	CCDC39	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	8701	DNAH11	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	1770	DNAH9	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	246176	GAS2L2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	1604	CD55	OMIM:226300
HP:0033127	Abnormality of the musculoskeletal system	10892	MALT1	OMIM:615468
HP:0033127	Abnormality of the musculoskeletal system	3868	KRT16	ORPHA:2199
HP:0033127	Abnormality of the musculoskeletal system	3857	KRT9	ORPHA:2199
HP:0033127	Abnormality of the musculoskeletal system	3848	KRT1	ORPHA:2199
HP:0033127	Abnormality of the musculoskeletal system	10216	PRG4	ORPHA:2848
HP:0033127	Abnormality of the musculoskeletal system	4323	MMP14	ORPHA:371428
HP:0033127	Abnormality of the musculoskeletal system	4323	MMP14	OMIM:277950
HP:0033127	Abnormality of the musculoskeletal system	3955	LFNG	OMIM:609813
HP:0033127	Abnormality of the musculoskeletal system	10525	HYOU1	OMIM:233600
HP:0033127	Abnormality of the musculoskeletal system	57222	ERGIC1	ORPHA:1143
HP:0033127	Abnormality of the musculoskeletal system	55209	SETD5	ORPHA:404440
HP:0033127	Abnormality of the musculoskeletal system	283489	CHAMP1	OMIM:616579
HP:0033127	Abnormality of the musculoskeletal system	27245	AHDC1	ORPHA:412069
HP:0033127	Abnormality of the musculoskeletal system	27245	AHDC1	OMIM:615829
HP:0033127	Abnormality of the musculoskeletal system	7253	TSHR	ORPHA:90673
HP:0033127	Abnormality of the musculoskeletal system	7253	TSHR	ORPHA:95720
HP:0033127	Abnormality of the musculoskeletal system	7253	TSHR	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	7252	TSHB	ORPHA:90674
HP:0033127	Abnormality of the musculoskeletal system	7252	TSHB	OMIM:275100
HP:0033127	Abnormality of the musculoskeletal system	8029	CUBN	ORPHA:35858
HP:0033127	Abnormality of the musculoskeletal system	81693	AMN	ORPHA:35858
HP:0033127	Abnormality of the musculoskeletal system	79029	AFG2B	OMIM:619616
HP:0033127	Abnormality of the musculoskeletal system	7386	UQCRFS1	OMIM:618775
HP:0033127	Abnormality of the musculoskeletal system	790955	UQCC3	OMIM:616111
HP:0033127	Abnormality of the musculoskeletal system	3340	NDST1	OMIM:616116
HP:0033127	Abnormality of the musculoskeletal system	6602	SMARCD1	OMIM:618779
HP:0033127	Abnormality of the musculoskeletal system	55621	TRMT1	OMIM:618302
HP:0033127	Abnormality of the musculoskeletal system	9354	UBE4A	OMIM:619639
HP:0033127	Abnormality of the musculoskeletal system	55280	CWF19L1	OMIM:616127
HP:0033127	Abnormality of the musculoskeletal system	2517	FUCA1	ORPHA:349
HP:0033127	Abnormality of the musculoskeletal system	2203	FBP1	ORPHA:348
HP:0033127	Abnormality of the musculoskeletal system	2203	FBP1	OMIM:229700
HP:0033127	Abnormality of the musculoskeletal system	54828	BCAS3	OMIM:619641
HP:0033127	Abnormality of the musculoskeletal system	113179	ADAT3	OMIM:615286
HP:0033127	Abnormality of the musculoskeletal system	197258	FCSK	OMIM:618324
HP:0033127	Abnormality of the musculoskeletal system	23499	MACF1	OMIM:618325
HP:0033127	Abnormality of the musculoskeletal system	2744	GLS	OMIM:618328
HP:0033127	Abnormality of the musculoskeletal system	1523	CUX1	OMIM:618330
HP:0033127	Abnormality of the musculoskeletal system	3155	HMGCL	ORPHA:20
HP:0033127	Abnormality of the musculoskeletal system	3155	HMGCL	OMIM:246450
HP:0033127	Abnormality of the musculoskeletal system	5515	PPP2CA	OMIM:618354
HP:0033127	Abnormality of the musculoskeletal system	3767	KCNJ11	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	3767	KCNJ11	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	6774	STAT3	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	2645	GCK	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	3651	PDX1	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	3630	INS	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	346171	ZFP57	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	57061	HYMAI	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	5325	PLAGL1	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	79709	COLGALT1	OMIM:618360
HP:0033127	Abnormality of the musculoskeletal system	347733	TUBB2B	ORPHA:467166
HP:0033127	Abnormality of the musculoskeletal system	347733	TUBB2B	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	22930	RAB3GAP1	OMIM:600118
HP:0033127	Abnormality of the musculoskeletal system	22930	RAB3GAP1	ORPHA:2510
HP:0033127	Abnormality of the musculoskeletal system	51434	ANAPC7	OMIM:619699
HP:0033127	Abnormality of the musculoskeletal system	6601	SMARCC2	OMIM:618362
HP:0033127	Abnormality of the musculoskeletal system	3054	HCFC1	OMIM:309541
HP:0033127	Abnormality of the musculoskeletal system	51608	GET4	OMIM:620200
HP:0033127	Abnormality of the musculoskeletal system	7086	TKT	OMIM:617044
HP:0033127	Abnormality of the musculoskeletal system	7086	TKT	ORPHA:488618
HP:0033127	Abnormality of the musculoskeletal system	84705	GTPBP3	OMIM:616198
HP:0033127	Abnormality of the musculoskeletal system	8883	NAE1	OMIM:620210
HP:0033127	Abnormality of the musculoskeletal system	27107	ZBTB11	OMIM:618383
HP:0033127	Abnormality of the musculoskeletal system	23112	TNRC6B	OMIM:619243
HP:0033127	Abnormality of the musculoskeletal system	91875	TTC5	OMIM:619244
HP:0033127	Abnormality of the musculoskeletal system	10551	AGR2	OMIM:620233
HP:0033127	Abnormality of the musculoskeletal system	81615	TMEM163	OMIM:620243
HP:0033127	Abnormality of the musculoskeletal system	10079	ATP9A	OMIM:620242
HP:0033127	Abnormality of the musculoskeletal system	124093	CCDC78	OMIM:614807
HP:0033127	Abnormality of the musculoskeletal system	2801	GOLGA2	OMIM:620240
HP:0033127	Abnormality of the musculoskeletal system	5256	PHKA2	OMIM:306000
HP:0033127	Abnormality of the musculoskeletal system	5256	PHKA2	ORPHA:264580
HP:0033127	Abnormality of the musculoskeletal system	2294	FOXF1	OMIM:265380
HP:0033127	Abnormality of the musculoskeletal system	26960	NBEA	OMIM:619157
HP:0033127	Abnormality of the musculoskeletal system	25821	MTO1	OMIM:614702
HP:0033127	Abnormality of the musculoskeletal system	9640	ZNF592	ORPHA:83472
HP:0033127	Abnormality of the musculoskeletal system	429	ASCL1	ORPHA:99803
HP:0033127	Abnormality of the musculoskeletal system	8929	PHOX2B	ORPHA:99803
HP:0033127	Abnormality of the musculoskeletal system	8929	PHOX2B	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	7125	TNNC2	OMIM:620161
HP:0033127	Abnormality of the musculoskeletal system	5080	PAX6	ORPHA:1065
HP:0033127	Abnormality of the musculoskeletal system	55858	TMEM165	OMIM:614727
HP:0033127	Abnormality of the musculoskeletal system	54675	CRLS1	OMIM:620167
HP:0033127	Abnormality of the musculoskeletal system	55148	UBR7	OMIM:619189
HP:0033127	Abnormality of the musculoskeletal system	1591	CYP24A1	OMIM:143880
HP:0033127	Abnormality of the musculoskeletal system	3769	KCNJ13	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	343035	RD3	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	145226	RDH12	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	1406	CRX	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	10383	TUBB4B	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	85015	USP45	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	6121	RPE65	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	23418	CRB1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	9657	IQCB1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	23746	AIPL1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	3000	GUCY2D	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	9227	LRAT	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	55812	SPATA7	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	7287	TULP1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	167691	LCA5	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	3614	IMPDH1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	3675	ITGA3	OMIM:614748
HP:0033127	Abnormality of the musculoskeletal system	283209	PGM2L1	OMIM:620191
HP:0033127	Abnormality of the musculoskeletal system	57724	EPG5	ORPHA:1493
HP:0033127	Abnormality of the musculoskeletal system	57724	EPG5	OMIM:242840
HP:0033127	Abnormality of the musculoskeletal system	6569	SLC34A1	OMIM:616963
HP:0033127	Abnormality of the musculoskeletal system	132	ADK	OMIM:614300
HP:0033127	Abnormality of the musculoskeletal system	27034	ACAD8	OMIM:611283
HP:0033127	Abnormality of the musculoskeletal system	27034	ACAD8	ORPHA:79159
HP:0033127	Abnormality of the musculoskeletal system	54931	TRMT10C	OMIM:616974
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:177904
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:177901
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:98754
HP:0033127	Abnormality of the musculoskeletal system	2332	FMR1	ORPHA:449291
HP:0033127	Abnormality of the musculoskeletal system	2332	FMR1	ORPHA:261483
HP:0033127	Abnormality of the musculoskeletal system	2332	FMR1	ORPHA:908
HP:0033127	Abnormality of the musculoskeletal system	23732	FRRS1L	OMIM:616981
HP:0033127	Abnormality of the musculoskeletal system	388753	COA6	OMIM:616501
HP:0033127	Abnormality of the musculoskeletal system	6678	SPARC	OMIM:616507
HP:0033127	Abnormality of the musculoskeletal system	4982	TNFRSF11B	OMIM:239000
HP:0033127	Abnormality of the musculoskeletal system	4854	NOTCH3	ORPHA:2789
HP:0033127	Abnormality of the musculoskeletal system	4854	NOTCH3	OMIM:130720
HP:0033127	Abnormality of the musculoskeletal system	55180	LINS1	OMIM:614340
HP:0033127	Abnormality of the musculoskeletal system	85440	DOCK7	ORPHA:411986
HP:0033127	Abnormality of the musculoskeletal system	85440	DOCK7	OMIM:615859
HP:0033127	Abnormality of the musculoskeletal system	122553	TRAPPC6B	OMIM:617862
HP:0033127	Abnormality of the musculoskeletal system	5261	PHKG2	OMIM:613027
HP:0033127	Abnormality of the musculoskeletal system	5261	PHKG2	ORPHA:264580
HP:0033127	Abnormality of the musculoskeletal system	10577	NPC2	OMIM:607625
HP:0033127	Abnormality of the musculoskeletal system	8777	MPDZ	OMIM:615219
HP:0033127	Abnormality of the musculoskeletal system	246329	STAC3	OMIM:255995
HP:0033127	Abnormality of the musculoskeletal system	246329	STAC3	ORPHA:168572
HP:0033127	Abnormality of the musculoskeletal system	343450	KCNT2	OMIM:617771
HP:0033127	Abnormality of the musculoskeletal system	1355	COX15	OMIM:615119
HP:0033127	Abnormality of the musculoskeletal system	1355	COX15	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	790	CAD	OMIM:616457
HP:0033127	Abnormality of the musculoskeletal system	65082	VPS33A	OMIM:617303
HP:0033127	Abnormality of the musculoskeletal system	65082	VPS33A	ORPHA:505248
HP:0033127	Abnormality of the musculoskeletal system	10730	YME1L1	OMIM:617302
HP:0033127	Abnormality of the musculoskeletal system	129563	DIS3L2	ORPHA:2849
HP:0033127	Abnormality of the musculoskeletal system	55870	ASH1L	OMIM:617796
HP:0033127	Abnormality of the musculoskeletal system	283987	HID1	OMIM:619983
HP:0033127	Abnormality of the musculoskeletal system	1501	CTNND2	ORPHA:281
HP:0033127	Abnormality of the musculoskeletal system	9037	SEMA5A	ORPHA:281
HP:0033127	Abnormality of the musculoskeletal system	497661	C18orf32	OMIM:619985
HP:0033127	Abnormality of the musculoskeletal system	7862	BRPF1	OMIM:617333
HP:0033127	Abnormality of the musculoskeletal system	54914	FOCAD	OMIM:619991
HP:0033127	Abnormality of the musculoskeletal system	22	ABCB7	ORPHA:2802
HP:0033127	Abnormality of the musculoskeletal system	1107	CHD3	OMIM:618205
HP:0033127	Abnormality of the musculoskeletal system	23189	KANK1	OMIM:612900
HP:0033127	Abnormality of the musculoskeletal system	8621	CDK13	OMIM:617360
HP:0033127	Abnormality of the musculoskeletal system	3912	LAMB1	OMIM:615191
HP:0033127	Abnormality of the musculoskeletal system	55628	ZNF407	OMIM:619557
HP:0033127	Abnormality of the musculoskeletal system	627	BDNF	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	283446	MYO1H	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	283446	MYO1H	OMIM:619482
HP:0033127	Abnormality of the musculoskeletal system	137682	NDUFAF6	OMIM:618239
HP:0033127	Abnormality of the musculoskeletal system	137682	NDUFAF6	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	1741	DLG3	OMIM:300850
HP:0033127	Abnormality of the musculoskeletal system	57551	TAOK1	OMIM:619575
HP:0033127	Abnormality of the musculoskeletal system	22796	COG2	OMIM:617395
HP:0033127	Abnormality of the musculoskeletal system	123263	MTFMT	OMIM:618248
HP:0033127	Abnormality of the musculoskeletal system	123263	MTFMT	OMIM:614947
HP:0033127	Abnormality of the musculoskeletal system	123263	MTFMT	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	9509	ADAMTS2	ORPHA:1901
HP:0033127	Abnormality of the musculoskeletal system	5250	SLC25A3	OMIM:610773
HP:0033127	Abnormality of the musculoskeletal system	5250	SLC25A3	ORPHA:91130
HP:0033127	Abnormality of the musculoskeletal system	10771	ZMYND11	OMIM:616083
HP:0033127	Abnormality of the musculoskeletal system	23287	AGTPBP1	OMIM:618276
HP:0033127	Abnormality of the musculoskeletal system	23287	AGTPBP1	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	8911	CACNA1I	OMIM:620114
HP:0033127	Abnormality of the musculoskeletal system	11014	KDELR2	OMIM:619131
HP:0033127	Abnormality of the musculoskeletal system	4781	NFIB	OMIM:618286
HP:0033127	Abnormality of the musculoskeletal system	8665	EIF3F	OMIM:618295
HP:0033127	Abnormality of the musculoskeletal system	54938	SARS2	OMIM:613845
HP:0033127	Abnormality of the musculoskeletal system	26275	HIBCH	OMIM:250620
HP:0033127	Abnormality of the musculoskeletal system	26275	HIBCH	ORPHA:88639
HP:0033127	Abnormality of the musculoskeletal system	79717	PPCS	OMIM:618189
HP:0033127	Abnormality of the musculoskeletal system	7109	TRAPPC10	OMIM:620027
HP:0033127	Abnormality of the musculoskeletal system	55325	UFSP2	OMIM:620028
HP:0033127	Abnormality of the musculoskeletal system	501	ALDH7A1	OMIM:266100
HP:0033127	Abnormality of the musculoskeletal system	5689	PSMB1	OMIM:620038
HP:0033127	Abnormality of the musculoskeletal system	63908	NAPB	OMIM:620033
HP:0033127	Abnormality of the musculoskeletal system	686	BTD	OMIM:253260
HP:0033127	Abnormality of the musculoskeletal system	686	BTD	ORPHA:79241
HP:0033127	Abnormality of the musculoskeletal system	55107	ANO1	OMIM:620045
HP:0033127	Abnormality of the musculoskeletal system	6597	SMARCA4	OMIM:614609
HP:0033127	Abnormality of the musculoskeletal system	9377	COX5A	OMIM:619064
HP:0033127	Abnormality of the musculoskeletal system	4591	TRIM37	OMIM:253250
HP:0033127	Abnormality of the musculoskeletal system	124512	METTL23	OMIM:615942
HP:0033127	Abnormality of the musculoskeletal system	10382	TUBB4A	OMIM:612438
HP:0033127	Abnormality of the musculoskeletal system	1174	AP1S1	OMIM:609313
HP:0033127	Abnormality of the musculoskeletal system	112755	STX1B	ORPHA:36387
HP:0033127	Abnormality of the musculoskeletal system	5091	PC	OMIM:266150
HP:0033127	Abnormality of the musculoskeletal system	22859	ADGRL1	OMIM:620065
HP:0033127	Abnormality of the musculoskeletal system	83475	DOHH	OMIM:620066
HP:0033127	Abnormality of the musculoskeletal system	6609	SMPD1	OMIM:257200
HP:0033127	Abnormality of the musculoskeletal system	5915	RARB	ORPHA:2470
HP:0033127	Abnormality of the musculoskeletal system	84978	FRMD5	OMIM:620094
HP:0033127	Abnormality of the musculoskeletal system	3720	JARID2	OMIM:620098
HP:0033127	Abnormality of the musculoskeletal system	51124	IER3IP1	OMIM:614231
HP:0033127	Abnormality of the musculoskeletal system	6519	SLC3A1	ORPHA:163690
HP:0033127	Abnormality of the musculoskeletal system	6519	SLC3A1	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	6591	SNAI2	ORPHA:2884
HP:0033127	Abnormality of the musculoskeletal system	3815	KIT	ORPHA:2884
HP:0033127	Abnormality of the musculoskeletal system	5495	PPM1B	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	79823	CAMKMT	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	9320	TRIP12	OMIM:617752
HP:0033127	Abnormality of the musculoskeletal system	5879	RAC1	OMIM:617751
HP:0033127	Abnormality of the musculoskeletal system	8803	SUCLA2	OMIM:612073
HP:0033127	Abnormality of the musculoskeletal system	26235	FBXL4	OMIM:615471
HP:0033127	Abnormality of the musculoskeletal system	55823	VPS11	ORPHA:466934
HP:0033127	Abnormality of the musculoskeletal system	55823	VPS11	OMIM:616683
HP:0033127	Abnormality of the musculoskeletal system	4897	NRCAM	OMIM:619833
HP:0033127	Abnormality of the musculoskeletal system	1373	CPS1	ORPHA:147
HP:0033127	Abnormality of the musculoskeletal system	65993	MRPS34	OMIM:617664
HP:0033127	Abnormality of the musculoskeletal system	6487	ST3GAL3	OMIM:615006
HP:0033127	Abnormality of the musculoskeletal system	318	NUDT2	OMIM:619844
HP:0033127	Abnormality of the musculoskeletal system	23321	TRIM2	OMIM:615490
HP:0033127	Abnormality of the musculoskeletal system	55065	SLC52A1	OMIM:615026
HP:0033127	Abnormality of the musculoskeletal system	26038	CHD5	OMIM:619873
HP:0033127	Abnormality of the musculoskeletal system	57680	CHD8	OMIM:615032
HP:0033127	Abnormality of the musculoskeletal system	51692	CPSF3	OMIM:619876
HP:0033127	Abnormality of the musculoskeletal system	2990	GUSB	ORPHA:584
HP:0033127	Abnormality of the musculoskeletal system	27068	PPA2	OMIM:617222
HP:0033127	Abnormality of the musculoskeletal system	38	ACAT1	ORPHA:134
HP:0033127	Abnormality of the musculoskeletal system	26173	INTS1	OMIM:618571
HP:0033127	Abnormality of the musculoskeletal system	6418	SET	OMIM:618106
HP:0033127	Abnormality of the musculoskeletal system	128869	PIGU	OMIM:618590
HP:0033127	Abnormality of the musculoskeletal system	3039	HBA1	ORPHA:98791
HP:0033127	Abnormality of the musculoskeletal system	3040	HBA2	ORPHA:98791
HP:0033127	Abnormality of the musculoskeletal system	537	ATP6AP1	OMIM:300972
HP:0033127	Abnormality of the musculoskeletal system	3376	IARS1	ORPHA:541423
HP:0033127	Abnormality of the musculoskeletal system	3376	IARS1	OMIM:617093
HP:0033127	Abnormality of the musculoskeletal system	6045	RNF2	OMIM:619460
HP:0033127	Abnormality of the musculoskeletal system	51102	MECR	OMIM:617282
HP:0033127	Abnormality of the musculoskeletal system	51102	MECR	ORPHA:508093
HP:0033127	Abnormality of the musculoskeletal system	8567	MADD	OMIM:619004
HP:0033127	Abnormality of the musculoskeletal system	80267	EDEM3	OMIM:619493
HP:0033127	Abnormality of the musculoskeletal system	63899	NSUN3	OMIM:619012
HP:0033127	Abnormality of the musculoskeletal system	5831	PYCR1	ORPHA:2078
HP:0033127	Abnormality of the musculoskeletal system	8910	SGCE	OMIM:159900
HP:0033127	Abnormality of the musculoskeletal system	55294	FBXW7	OMIM:620012
HP:0033127	Abnormality of the musculoskeletal system	10466	COG5	OMIM:613612
HP:0033127	Abnormality of the musculoskeletal system	80232	WDR26	ORPHA:513456
HP:0033127	Abnormality of the musculoskeletal system	80232	WDR26	OMIM:617616
HP:0033127	Abnormality of the musculoskeletal system	64207	IRF2BPL	OMIM:618088
HP:0033127	Abnormality of the musculoskeletal system	23325	WASHC4	OMIM:615817
HP:0033127	Abnormality of the musculoskeletal system	80856	LNPK	OMIM:618090
HP:0033127	Abnormality of the musculoskeletal system	84300	UQCC2	OMIM:615824
HP:0033127	Abnormality of the musculoskeletal system	5063	PAK3	OMIM:300558
HP:0033127	Abnormality of the musculoskeletal system	3418	IDH2	OMIM:613657
HP:0033127	Abnormality of the musculoskeletal system	50506	DUOX2	ORPHA:226316
HP:0033127	Abnormality of the musculoskeletal system	50506	DUOX2	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	57393	CLTRN	ORPHA:2116
HP:0033127	Abnormality of the musculoskeletal system	3242	HPD	ORPHA:2118
HP:0033127	Abnormality of the musculoskeletal system	6948	TCN2	OMIM:275350
HP:0033127	Abnormality of the musculoskeletal system	79644	SRD5A3	OMIM:612379
HP:0033127	Abnormality of the musculoskeletal system	50	ACO2	OMIM:614559
HP:0033127	Abnormality of the musculoskeletal system	27235	COQ2	OMIM:607426
HP:0033127	Abnormality of the musculoskeletal system	56479	KCNQ5	OMIM:617601
HP:0033127	Abnormality of the musculoskeletal system	3425	IDUA	ORPHA:93473
HP:0033127	Abnormality of the musculoskeletal system	60528	ELAC2	OMIM:615440
HP:0033127	Abnormality of the musculoskeletal system	5294	PIK3CG	OMIM:619802
HP:0033127	Abnormality of the musculoskeletal system	4695	NDUFA2	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	4697	NDUFA4	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	4704	NDUFA9	ORPHA:255241
HP:0033127	Abnormality of the musculoskeletal system	51761	ATP8A2	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	767	CA8	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	OMIM:218700
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	ORPHA:95720
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	ORPHA:95712
HP:0033127	Abnormality of the musculoskeletal system	249	ALPL	OMIM:241500
HP:0033127	Abnormality of the musculoskeletal system	1630	DCC	OMIM:617542
HP:0033127	Abnormality of the musculoskeletal system	1630	DCC	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	4056	LTC4S	OMIM:614037
HP:0033127	Abnormality of the musculoskeletal system	27102	EIF2AK1	OMIM:618878
HP:0033127	Abnormality of the musculoskeletal system	51319	RSRC1	OMIM:618402
HP:0033127	Abnormality of the musculoskeletal system	142680	SLC34A3	OMIM:241530
HP:0033127	Abnormality of the musculoskeletal system	8363	H4C11	OMIM:619759
HP:0033127	Abnormality of the musculoskeletal system	9993	DGCR2	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	8220	ESS2	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	8214	DGCR6	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	54487	DGCR8	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	51341	ZBTB7A	OMIM:619769
HP:0033127	Abnormality of the musculoskeletal system	9338	TCEAL1	OMIM:301094
HP:0033127	Abnormality of the musculoskeletal system	54941	RNF125	OMIM:616260
HP:0033127	Abnormality of the musculoskeletal system	4509	MT-ATP8	ORPHA:480
HP:0033127	Abnormality of the musculoskeletal system	51117	COQ4	OMIM:616276
HP:0033127	Abnormality of the musculoskeletal system	51013	EXOSC1	OMIM:619304
HP:0033127	Abnormality of the musculoskeletal system	10371	SEMA3A	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	81848	SPRY4	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	23767	FLRT3	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	128674	PROKR2	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	79625	NDNF	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	389549	FEZF1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	3730	ANOS1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	54756	IL17RD	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	285025	CCDC141	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	60675	PROK2	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	1848	DUSP6	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	6870	TACR3	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	9394	HS6ST1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	8822	FGF17	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	5898	RALA	OMIM:619311
HP:0033127	Abnormality of the musculoskeletal system	112	ADCY6	OMIM:616287
HP:0033127	Abnormality of the musculoskeletal system	112	ADCY6	ORPHA:2680
HP:0033127	Abnormality of the musculoskeletal system	10329	RXYLT1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	8869	ST3GAL5	OMIM:609056
HP:0033127	Abnormality of the musculoskeletal system	25929	GEMIN5	OMIM:619333
HP:0033127	Abnormality of the musculoskeletal system	2560	GABRB1	OMIM:617153
HP:0033127	Abnormality of the musculoskeletal system	23221	RHOBTB2	OMIM:618004
HP:0033127	Abnormality of the musculoskeletal system	2530	FUT8	OMIM:618005
HP:0033127	Abnormality of the musculoskeletal system	9969	MED13	OMIM:618009
HP:0033127	Abnormality of the musculoskeletal system	1822	ATN1	OMIM:618494
HP:0033127	Abnormality of the musculoskeletal system	5457	POU4F1	OMIM:619352
HP:0033127	Abnormality of the musculoskeletal system	8086	AAAS	ORPHA:869
HP:0033127	Abnormality of the musculoskeletal system	128240	NAXE	OMIM:617186
HP:0033127	Abnormality of the musculoskeletal system	539	ATP5PO	OMIM:620359
HP:0033127	Abnormality of the musculoskeletal system	5426	POLE	ORPHA:85173
HP:0033127	Abnormality of the musculoskeletal system	1984	EIF5A	OMIM:619376
HP:0033127	Abnormality of the musculoskeletal system	5236	PGM1	OMIM:614921
HP:0033127	Abnormality of the musculoskeletal system	55074	OXR1	OMIM:213000
HP:0033127	Abnormality of the musculoskeletal system	129285	PPP1R21	OMIM:619383
HP:0033127	Abnormality of the musculoskeletal system	27072	VPS41	OMIM:619389
HP:0033127	Abnormality of the musculoskeletal system	9054	NFS1	OMIM:619386
HP:0033127	Abnormality of the musculoskeletal system	27183	VPS4A	OMIM:619273
HP:0033127	Abnormality of the musculoskeletal system	9442	MED27	OMIM:619286
HP:0033127	Abnormality of the musculoskeletal system	132158	GLYCTK	OMIM:220120
HP:0033127	Abnormality of the musculoskeletal system	5826	ABCD4	OMIM:614857
HP:0033127	Abnormality of the musculoskeletal system	93210	PGAP3	OMIM:615716
HP:0033127	Abnormality of the musculoskeletal system	728294	D2HGDH	OMIM:600721
HP:0033127	Abnormality of the musculoskeletal system	471	ATIC	OMIM:608688
HP:0033127	Abnormality of the musculoskeletal system	254065	BRWD3	OMIM:300659
HP:0033127	Abnormality of the musculoskeletal system	1384	CRAT	OMIM:617917
HP:0033127	Abnormality of the musculoskeletal system	85021	REPS1	OMIM:617916
HP:0033127	Abnormality of the musculoskeletal system	5859	QARS1	OMIM:615760
HP:0033127	Abnormality of the musculoskeletal system	5172	SLC26A4	ORPHA:95720
HP:0033127	Abnormality of the musculoskeletal system	5172	SLC26A4	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	51116	MRPS2	OMIM:617950
HP:0033127	Abnormality of the musculoskeletal system	405753	DUOXA2	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	6528	SLC5A5	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	7038	TG	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	7173	TPO	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	389434	IYD	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	2304	FOXE1	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	9056	SLC7A7	OMIM:222700
HP:0033127	Abnormality of the musculoskeletal system	1729	DIAPH1	OMIM:616632
HP:0033127	Abnormality of the musculoskeletal system	27010	TPK1	OMIM:614458
HP:0033127	Abnormality of the musculoskeletal system	56270	WDR45B	OMIM:617977
HP:0033127	Abnormality of the musculoskeletal system	100506658	OCLN	OMIM:251290
HP:0033127	Abnormality of the musculoskeletal system	51733	UPB1	OMIM:613161
HP:0033127	Abnormality of the musculoskeletal system	9181	ARHGEF2	OMIM:617523
HP:0033127	Abnormality of the musculoskeletal system	2108	ETFA	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	2109	ETFB	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	2110	ETFDH	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	10749	KIF1C	ORPHA:397946
HP:0033127	Abnormality of the musculoskeletal system	10749	KIF1C	OMIM:611302
HP:0033127	Abnormality of the musculoskeletal system	55703	POLR3B	OMIM:614381
HP:0033127	Abnormality of the musculoskeletal system	55703	POLR3B	OMIM:619742
HP:0033127	Abnormality of the musculoskeletal system	55703	POLR3B	OMIM:607694
HP:0033127	Abnormality of the musculoskeletal system	10159	ATP6AP2	OMIM:300911
HP:0033127	Abnormality of the musculoskeletal system	10159	ATP6AP2	OMIM:300423
HP:0033127	Abnormality of the musculoskeletal system	10159	ATP6AP2	ORPHA:363654
HP:0033127	Abnormality of the musculoskeletal system	6873	TAF2	OMIM:615599
HP:0033127	Abnormality of the musculoskeletal system	6873	TAF2	ORPHA:397951
HP:0033127	Abnormality of the musculoskeletal system	7360	UGP2	OMIM:618744
HP:0033127	Abnormality of the musculoskeletal system	7343	UBTF	OMIM:617672
HP:0033127	Abnormality of the musculoskeletal system	7343	UBTF	ORPHA:500180
HP:0033127	Abnormality of the musculoskeletal system	10111	RAD50	OMIM:613078
HP:0033127	Abnormality of the musculoskeletal system	55681	SCYL2	OMIM:618766
HP:0033127	Abnormality of the musculoskeletal system	8560	DEGS1	OMIM:618404
HP:0033127	Abnormality of the musculoskeletal system	4571	MT-TP	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4565	MT-TI	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	5833	PCYT2	OMIM:618770
HP:0033127	Abnormality of the musculoskeletal system	5654	HTRA1	ORPHA:199354
HP:0033127	Abnormality of the musculoskeletal system	5654	HTRA1	OMIM:600142
HP:0033127	Abnormality of the musculoskeletal system	472	ATM	ORPHA:100
HP:0033127	Abnormality of the musculoskeletal system	79991	STN1	OMIM:617341
HP:0033127	Abnormality of the musculoskeletal system	9276	COPB2	OMIM:619884
HP:0033127	Abnormality of the musculoskeletal system	9276	COPB2	OMIM:617800
HP:0033127	Abnormality of the musculoskeletal system	146227	BEAN1	ORPHA:217012
HP:0033127	Abnormality of the musculoskeletal system	1203	CLN5	ORPHA:228360
HP:0033127	Abnormality of the musculoskeletal system	387119	CEP85L	ORPHA:572013
HP:0033127	Abnormality of the musculoskeletal system	92255	LMBRD2	OMIM:619694
HP:0033127	Abnormality of the musculoskeletal system	23258	DENND5A	OMIM:617281
HP:0033127	Abnormality of the musculoskeletal system	2009	EML1	OMIM:600348
HP:0033127	Abnormality of the musculoskeletal system	9758	FRMPD4	OMIM:300983
HP:0033127	Abnormality of the musculoskeletal system	8635	RNASET2	OMIM:612951
HP:0033127	Abnormality of the musculoskeletal system	6697	SPR	OMIM:612716
HP:0033127	Abnormality of the musculoskeletal system	378884	NHLRC1	ORPHA:501
HP:0033127	Abnormality of the musculoskeletal system	7957	EPM2A	ORPHA:501
HP:0033127	Abnormality of the musculoskeletal system	7284	TUFM	OMIM:610678
HP:0033127	Abnormality of the musculoskeletal system	5216	PFN1	OMIM:614808
HP:0033127	Abnormality of the musculoskeletal system	5216	PFN1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	23236	PLCB1	OMIM:613722
HP:0033127	Abnormality of the musculoskeletal system	375	ARF1	OMIM:618185
HP:0033127	Abnormality of the musculoskeletal system	83700	JAM3	OMIM:613730
HP:0033127	Abnormality of the musculoskeletal system	51112	TRAPPC12	ORPHA:500144
HP:0033127	Abnormality of the musculoskeletal system	9915	ARNT2	OMIM:615926
HP:0033127	Abnormality of the musculoskeletal system	4718	NDUFC2	OMIM:619170
HP:0033127	Abnormality of the musculoskeletal system	1351	COX8A	OMIM:619059
HP:0033127	Abnormality of the musculoskeletal system	7276	TTR	OMIM:105210
HP:0033127	Abnormality of the musculoskeletal system	1678	TIMM8A	OMIM:304700
HP:0033127	Abnormality of the musculoskeletal system	26090	ABHD12	OMIM:612674
HP:0033127	Abnormality of the musculoskeletal system	2395	FXN	ORPHA:95
HP:0033127	Abnormality of the musculoskeletal system	2512	FTL	OMIM:606159
HP:0033127	Abnormality of the musculoskeletal system	27286	SRPX2	ORPHA:98889
HP:0033127	Abnormality of the musculoskeletal system	80025	PANK2	OMIM:234200
HP:0033127	Abnormality of the musculoskeletal system	80025	PANK2	OMIM:607236
HP:0033127	Abnormality of the musculoskeletal system	80025	PANK2	ORPHA:216873
HP:0033127	Abnormality of the musculoskeletal system	80025	PANK2	ORPHA:216866
HP:0033127	Abnormality of the musculoskeletal system	6908	TBP	ORPHA:98759
HP:0033127	Abnormality of the musculoskeletal system	25978	CHMP2B	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	8148	TAF15	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5445	PON2	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5630	PRPH	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5630	PRPH	OMIM:105400
HP:0033127	Abnormality of the musculoskeletal system	55830	GLT8D1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	755	CFAP410	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	10891	PPARGC1A	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	10133	OPTN	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5444	PON1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5446	PON3	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	29978	UBQLN2	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	2043	EPHA4	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	1610	DAO	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	2066	ERBB4	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	23025	UNC13A	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	899	CCNF	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	25793	FBXO7	ORPHA:171695
HP:0033127	Abnormality of the musculoskeletal system	7507	XPA	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	7507	XPA	OMIM:278700
HP:0033127	Abnormality of the musculoskeletal system	7508	XPC	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	1643	DDB2	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	23600	AMACR	OMIM:614307
HP:0033127	Abnormality of the musculoskeletal system	57505	AARS2	OMIM:615889
HP:0033127	Abnormality of the musculoskeletal system	2891	GRIA2	OMIM:618917
HP:0033127	Abnormality of the musculoskeletal system	6314	ATXN7	OMIM:164500
HP:0033127	Abnormality of the musculoskeletal system	2058	EPRS1	OMIM:617951
HP:0033127	Abnormality of the musculoskeletal system	84693	MCEE	OMIM:251120
HP:0033127	Abnormality of the musculoskeletal system	1641	DCX	OMIM:300067
HP:0033127	Abnormality of the musculoskeletal system	81689	ISCA1	OMIM:617613
HP:0033127	Abnormality of the musculoskeletal system	7305	TYROBP	ORPHA:2770
HP:0033127	Abnormality of the musculoskeletal system	7305	TYROBP	OMIM:221770
HP:0033127	Abnormality of the musculoskeletal system	22934	RPIA	OMIM:608611
HP:0033127	Abnormality of the musculoskeletal system	23209	MLC1	OMIM:604004
HP:0033127	Abnormality of the musculoskeletal system	10613	ERLIN1	OMIM:615681
HP:0033127	Abnormality of the musculoskeletal system	6785	ELOVL4	OMIM:133190
HP:0033127	Abnormality of the musculoskeletal system	84628	NTNG2	OMIM:618718
HP:0033127	Abnormality of the musculoskeletal system	9439	MED23	OMIM:614249
HP:0033127	Abnormality of the musculoskeletal system	10844	TUBGCP2	OMIM:618737
HP:0033127	Abnormality of the musculoskeletal system	55753	OGDHL	OMIM:619701
HP:0033127	Abnormality of the musculoskeletal system	3119	HLA-DQB1	OMIM:126200
HP:0033127	Abnormality of the musculoskeletal system	5133	PDCD1	OMIM:126200
HP:0033127	Abnormality of the musculoskeletal system	123606	NIPA1	ORPHA:100988
HP:0033127	Abnormality of the musculoskeletal system	123606	NIPA1	OMIM:600363
HP:0033127	Abnormality of the musculoskeletal system	80821	DDHD1	OMIM:609340
HP:0033127	Abnormality of the musculoskeletal system	55182	RNF220	OMIM:619688
HP:0033127	Abnormality of the musculoskeletal system	518	ATP5MC3	OMIM:619681
HP:0033127	Abnormality of the musculoskeletal system	25778	DSTYK	OMIM:270750
HP:0033127	Abnormality of the musculoskeletal system	25778	DSTYK	ORPHA:101003
HP:0033127	Abnormality of the musculoskeletal system	64834	ELOVL1	OMIM:618527
HP:0033127	Abnormality of the musculoskeletal system	118813	ZFYVE27	OMIM:610244
HP:0033127	Abnormality of the musculoskeletal system	823	CAPN1	OMIM:616907
HP:0033127	Abnormality of the musculoskeletal system	57599	WDR48	ORPHA:401800
HP:0033127	Abnormality of the musculoskeletal system	776	CACNA1D	ORPHA:369929
HP:0033127	Abnormality of the musculoskeletal system	9907	AP5Z1	OMIM:613647
HP:0033127	Abnormality of the musculoskeletal system	113612	CYP2U1	OMIM:615030
HP:0033127	Abnormality of the musculoskeletal system	113612	CYP2U1	ORPHA:320411
HP:0033127	Abnormality of the musculoskeletal system	22948	CCT5	ORPHA:139578
HP:0033127	Abnormality of the musculoskeletal system	22948	CCT5	OMIM:256840
HP:0033127	Abnormality of the musculoskeletal system	64837	KLC2	OMIM:609541
HP:0033127	Abnormality of the musculoskeletal system	22978	NT5C2	ORPHA:320396
HP:0033127	Abnormality of the musculoskeletal system	22978	NT5C2	OMIM:613162
HP:0033127	Abnormality of the musculoskeletal system	953	ENTPD1	OMIM:615683
HP:0033127	Abnormality of the musculoskeletal system	23204	ARL6IP1	OMIM:615685
HP:0033127	Abnormality of the musculoskeletal system	84842	HPDL	OMIM:619026
HP:0033127	Abnormality of the musculoskeletal system	84842	HPDL	OMIM:619027
HP:0033127	Abnormality of the musculoskeletal system	55656	INTS8	OMIM:618572
HP:0033127	Abnormality of the musculoskeletal system	51308	REEP2	OMIM:615625
HP:0033127	Abnormality of the musculoskeletal system	8050	PDHX	ORPHA:255182
HP:0033127	Abnormality of the musculoskeletal system	1615	DARS1	OMIM:615281
HP:0033127	Abnormality of the musculoskeletal system	120	ADD3	OMIM:617008
HP:0033127	Abnormality of the musculoskeletal system	11113	CIT	OMIM:617090
HP:0033127	Abnormality of the musculoskeletal system	6535	SLC6A8	OMIM:300352
HP:0033127	Abnormality of the musculoskeletal system	6535	SLC6A8	ORPHA:52503
HP:0033127	Abnormality of the musculoskeletal system	5723	PSPH	OMIM:614023
HP:0033127	Abnormality of the musculoskeletal system	5723	PSPH	ORPHA:79350
HP:0033127	Abnormality of the musculoskeletal system	55532	SLC30A10	ORPHA:309854
HP:0033127	Abnormality of the musculoskeletal system	3008	H1-4	OMIM:617537
HP:0033127	Abnormality of the musculoskeletal system	1119	CHKA	OMIM:620023
HP:0033127	Abnormality of the musculoskeletal system	57176	VARS2	OMIM:615917
HP:0033127	Abnormality of the musculoskeletal system	4072	EPCAM	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	4292	MLH1	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	5395	PMS2	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	27030	MLH3	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	22909	FAN1	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	2956	MSH6	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	5378	PMS1	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	4436	MSH2	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	6531	SLC6A3	ORPHA:238455
HP:0033127	Abnormality of the musculoskeletal system	6531	SLC6A3	OMIM:613135
HP:0033127	Abnormality of the musculoskeletal system	6536	SLC6A9	OMIM:617301
HP:0033127	Abnormality of the musculoskeletal system	10528	NOP56	OMIM:614153
HP:0033127	Abnormality of the musculoskeletal system	64218	SEMA4A	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	1841	DTYMK	OMIM:619847
HP:0033127	Abnormality of the musculoskeletal system	166378	AFG2A	OMIM:616577
HP:0033127	Abnormality of the musculoskeletal system	5610	EIF2AK2	OMIM:618877
HP:0033127	Abnormality of the musculoskeletal system	5610	EIF2AK2	ORPHA:256
HP:0033127	Abnormality of the musculoskeletal system	55163	PNPO	ORPHA:79096
HP:0033127	Abnormality of the musculoskeletal system	55163	PNPO	OMIM:610090
HP:0033127	Abnormality of the musculoskeletal system	271	AMPD2	OMIM:615809
HP:0033127	Abnormality of the musculoskeletal system	271	AMPD2	ORPHA:401805
HP:0033127	Abnormality of the musculoskeletal system	271	AMPD2	OMIM:615686
HP:0033127	Abnormality of the musculoskeletal system	51324	SPG21	OMIM:248900
HP:0033127	Abnormality of the musculoskeletal system	284403	WDR62	OMIM:604317
HP:0033127	Abnormality of the musculoskeletal system	9289	ADGRG1	OMIM:606854
HP:0033127	Abnormality of the musculoskeletal system	9692	PRORP	OMIM:619737
HP:0033127	Abnormality of the musculoskeletal system	3064	HTT	OMIM:617435
HP:0033127	Abnormality of the musculoskeletal system	340024	SLC6A19	OMIM:234500
HP:0033127	Abnormality of the musculoskeletal system	114034	TOE1	OMIM:614969
HP:0033127	Abnormality of the musculoskeletal system	114034	TOE1	ORPHA:284339
HP:0033127	Abnormality of the musculoskeletal system	22872	SEC31A	OMIM:618651
HP:0033127	Abnormality of the musculoskeletal system	5297	PI4KA	OMIM:619621
HP:0033127	Abnormality of the musculoskeletal system	25930	PTPN23	OMIM:618890
HP:0033127	Abnormality of the musculoskeletal system	4338	MOCS2	OMIM:252160
HP:0033127	Abnormality of the musculoskeletal system	9152	SLC6A5	OMIM:614618
HP:0033127	Abnormality of the musculoskeletal system	9152	SLC6A5	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	2743	GLRB	OMIM:614619
HP:0033127	Abnormality of the musculoskeletal system	2743	GLRB	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	1267	CNP	OMIM:619071
HP:0033127	Abnormality of the musculoskeletal system	1727	CYB5R3	OMIM:250800
HP:0033127	Abnormality of the musculoskeletal system	1727	CYB5R3	ORPHA:621
HP:0033127	Abnormality of the musculoskeletal system	149371	EXOC8	OMIM:619076
HP:0033127	Abnormality of the musculoskeletal system	80704	SLC19A3	OMIM:607483
HP:0033127	Abnormality of the musculoskeletal system	55719	SLF2	OMIM:620184
HP:0033127	Abnormality of the musculoskeletal system	3800	KIF5C	OMIM:615282
HP:0033127	Abnormality of the musculoskeletal system	2232	FDXR	ORPHA:543470
HP:0033127	Abnormality of the musculoskeletal system	4285	MIPEP	OMIM:617228
HP:0033127	Abnormality of the musculoskeletal system	9440	MED17	OMIM:613668
HP:0033127	Abnormality of the musculoskeletal system	55164	SHQ1	ORPHA:256
HP:0033127	Abnormality of the musculoskeletal system	55275	VPS53	OMIM:615851
HP:0033127	Abnormality of the musculoskeletal system	65057	ACD	ORPHA:3322
HP:0033127	Abnormality of the musculoskeletal system	6509	SLC1A4	ORPHA:447997
HP:0033127	Abnormality of the musculoskeletal system	9526	MPDU1	ORPHA:79323
HP:0033127	Abnormality of the musculoskeletal system	9526	MPDU1	OMIM:609180
HP:0033127	Abnormality of the musculoskeletal system	51645	PPIL1	OMIM:619301
HP:0033127	Abnormality of the musculoskeletal system	51362	CDC40	OMIM:619302
HP:0033127	Abnormality of the musculoskeletal system	9445	ITM2B	OMIM:176500
HP:0033127	Abnormality of the musculoskeletal system	10535	RNASEH2A	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	79621	RNASEH2B	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	103	ADAR	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	103	ADAR	ORPHA:225154
HP:0033127	Abnormality of the musculoskeletal system	134353	LSM11	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	4001	LMNB1	ORPHA:99027
HP:0033127	Abnormality of the musculoskeletal system	84894	LINGO1	OMIM:618103
HP:0033127	Abnormality of the musculoskeletal system	30000	TNPO2	OMIM:619556
HP:0033127	Abnormality of the musculoskeletal system	54892	NCAPG2	OMIM:618460
HP:0033127	Abnormality of the musculoskeletal system	85476	GFM1	OMIM:609060
HP:0033127	Abnormality of the musculoskeletal system	3785	KCNQ2	ORPHA:306
HP:0033127	Abnormality of the musculoskeletal system	3786	KCNQ3	ORPHA:306
HP:0033127	Abnormality of the musculoskeletal system	5309	PITX3	OMIM:610623
HP:0033127	Abnormality of the musculoskeletal system	81570	CLPB	ORPHA:445038
HP:0033127	Abnormality of the musculoskeletal system	6647	SOD1	OMIM:618598
HP:0033127	Abnormality of the musculoskeletal system	1806	DPYD	OMIM:274270
HP:0033127	Abnormality of the musculoskeletal system	1806	DPYD	ORPHA:1675
HP:0033127	Abnormality of the musculoskeletal system	63925	ZNF335	OMIM:615095
HP:0033127	Abnormality of the musculoskeletal system	23229	ARHGEF9	ORPHA:163985
HP:0033127	Abnormality of the musculoskeletal system	23229	ARHGEF9	OMIM:300607
HP:0033127	Abnormality of the musculoskeletal system	2138	EYA1	ORPHA:2792
HP:0033127	Abnormality of the musculoskeletal system	1737	DLAT	ORPHA:79244
HP:0033127	Abnormality of the musculoskeletal system	91647	ATPAF2	OMIM:604273
HP:0033127	Abnormality of the musculoskeletal system	27031	NPHP3	OMIM:267010
HP:0033127	Abnormality of the musculoskeletal system	5903	RANBP2	ORPHA:88619
HP:0033127	Abnormality of the musculoskeletal system	5903	RANBP2	OMIM:608033
HP:0033127	Abnormality of the musculoskeletal system	2741	GLRA1	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	2741	GLRA1	OMIM:149400
HP:0033127	Abnormality of the musculoskeletal system	54664	TMEM106B	OMIM:617964
HP:0033127	Abnormality of the musculoskeletal system	5873	RAB27A	ORPHA:79477
HP:0033127	Abnormality of the musculoskeletal system	11212	PLPBP	OMIM:617290
HP:0033127	Abnormality of the musculoskeletal system	51501	HIKESHI	OMIM:616881
HP:0033127	Abnormality of the musculoskeletal system	58494	JAM2	OMIM:618824
HP:0033127	Abnormality of the musculoskeletal system	1528	CYB5A	ORPHA:621
HP:0033127	Abnormality of the musculoskeletal system	1718	DHCR24	ORPHA:35107
HP:0033127	Abnormality of the musculoskeletal system	2571	GAD1	OMIM:619124
HP:0033127	Abnormality of the musculoskeletal system	440138	ALG11	ORPHA:280071
HP:0033127	Abnormality of the musculoskeletal system	2893	GRIA4	OMIM:617864
HP:0033127	Abnormality of the musculoskeletal system	3832	KIF11	ORPHA:2526
HP:0033127	Abnormality of the musculoskeletal system	4190	MDH1	OMIM:618959
HP:0033127	Abnormality of the musculoskeletal system	57570	TRMT5	OMIM:616539
HP:0033127	Abnormality of the musculoskeletal system	2593	GAMT	OMIM:612736
HP:0033127	Abnormality of the musculoskeletal system	55691	FRMD4A	ORPHA:466688
HP:0033127	Abnormality of the musculoskeletal system	23636	NUP62	ORPHA:225154
HP:0033127	Abnormality of the musculoskeletal system	3739	KCNA4	OMIM:618284
HP:0033127	Abnormality of the musculoskeletal system	84231	TRAF7	OMIM:618164
HP:0033127	Abnormality of the musculoskeletal system	85378	TUBGCP6	ORPHA:2518
HP:0033127	Abnormality of the musculoskeletal system	27229	TUBGCP4	ORPHA:2518
HP:0033127	Abnormality of the musculoskeletal system	4693	NDP	ORPHA:649
HP:0033127	Abnormality of the musculoskeletal system	23529	CLCF1	ORPHA:1545
HP:0033127	Abnormality of the musculoskeletal system	9562	MINPP1	ORPHA:284339
HP:0033127	Abnormality of the musculoskeletal system	5860	QDPR	OMIM:261630
HP:0033127	Abnormality of the musculoskeletal system	51075	TMX2	OMIM:618730
HP:0033127	Abnormality of the musculoskeletal system	1496	CTNNA2	OMIM:618174
HP:0033127	Abnormality of the musculoskeletal system	35	ACADS	ORPHA:26792
HP:0033127	Abnormality of the musculoskeletal system	8942	KYNU	ORPHA:79155
HP:0033127	Abnormality of the musculoskeletal system	140803	TRPM6	OMIM:602014
HP:0033127	Abnormality of the musculoskeletal system	6557	SLC12A1	OMIM:601678
HP:0033127	Abnormality of the musculoskeletal system	3758	KCNJ1	OMIM:241200
HP:0033127	Abnormality of the musculoskeletal system	5741	PTH	OMIM:146200
HP:0033127	Abnormality of the musculoskeletal system	2625	GATA3	OMIM:146255
HP:0033127	Abnormality of the musculoskeletal system	10686	CLDN16	OMIM:248250
HP:0033127	Abnormality of the musculoskeletal system	58528	RRAGD	OMIM:620152
HP:0033127	Abnormality of the musculoskeletal system	367	AR	OMIM:313200
HP:0033127	Abnormality of the musculoskeletal system	54822	TRPM7	OMIM:105500
HP:0033127	Abnormality of the musculoskeletal system	2934	GSN	OMIM:105120
HP:0033127	Abnormality of the musculoskeletal system	84065	TMEM222	OMIM:619470
HP:0033127	Abnormality of the musculoskeletal system	51399	TRAPPC4	OMIM:618741
HP:0033127	Abnormality of the musculoskeletal system	4337	MOCS1	OMIM:252150
HP:0033127	Abnormality of the musculoskeletal system	60558	GUF1	OMIM:617065
HP:0033127	Abnormality of the musculoskeletal system	51601	LIPT1	OMIM:616299
HP:0033127	Abnormality of the musculoskeletal system	549	AUH	ORPHA:67046
HP:0033127	Abnormality of the musculoskeletal system	387787	LIPT2	OMIM:617668
HP:0033127	Abnormality of the musculoskeletal system	6812	STXBP1	ORPHA:495818
HP:0033127	Abnormality of the musculoskeletal system	498	ATP5F1A	OMIM:620358
HP:0033127	Abnormality of the musculoskeletal system	79944	L2HGDH	OMIM:236792
HP:0033127	Abnormality of the musculoskeletal system	79944	L2HGDH	ORPHA:79314
HP:0033127	Abnormality of the musculoskeletal system	51204	TACO1	OMIM:619052
HP:0033127	Abnormality of the musculoskeletal system	2937	GSS	OMIM:266130
HP:0033127	Abnormality of the musculoskeletal system	7143	TNR	OMIM:619653
HP:0033127	Abnormality of the musculoskeletal system	3899	AFF3	OMIM:619297
HP:0033127	Abnormality of the musculoskeletal system	29960	MRM2	OMIM:618567
HP:0033127	Abnormality of the musculoskeletal system	56978	PRDM8	ORPHA:324290
HP:0033127	Abnormality of the musculoskeletal system	104	ADARB1	OMIM:618862
HP:0033127	Abnormality of the musculoskeletal system	50651	SLC45A1	OMIM:617532
HP:0033127	Abnormality of the musculoskeletal system	51569	UFM1	OMIM:617899
HP:0033127	Abnormality of the musculoskeletal system	4860	PNP	OMIM:613179
HP:0033127	Abnormality of the musculoskeletal system	6228	RPS23	OMIM:617412
HP:0033127	Abnormality of the musculoskeletal system	9254	CACNA2D2	OMIM:618501
HP:0033127	Abnormality of the musculoskeletal system	23417	MLYCD	OMIM:248360
HP:0033127	Abnormality of the musculoskeletal system	84334	COA8	ORPHA:436271
HP:0033127	Abnormality of the musculoskeletal system	64220	STRA6	OMIM:601186
HP:0033127	Abnormality of the musculoskeletal system	2731	GLDC	OMIM:605899
HP:0033127	Abnormality of the musculoskeletal system	275	AMT	OMIM:605899
HP:0033127	Abnormality of the musculoskeletal system	116931	MED12L	OMIM:618872
HP:0033127	Abnormality of the musculoskeletal system	120227	CYP2R1	OMIM:600081
HP:0033127	Abnormality of the musculoskeletal system	120227	CYP2R1	ORPHA:289157
HP:0033127	Abnormality of the musculoskeletal system	23474	ETHE1	ORPHA:51188
HP:0033127	Abnormality of the musculoskeletal system	10559	SLC35A1	OMIM:603585
HP:0033127	Abnormality of the musculoskeletal system	288	ANK3	OMIM:615493
HP:0033127	Abnormality of the musculoskeletal system	2590	GALNT2	OMIM:618885
HP:0033127	Abnormality of the musculoskeletal system	7436	VLDLR	OMIM:224050
HP:0033127	Abnormality of the musculoskeletal system	83480	PUS3	ORPHA:488627
HP:0033127	Abnormality of the musculoskeletal system	6872	TAF1	ORPHA:480907
HP:0033127	Abnormality of the musculoskeletal system	6872	TAF1	OMIM:300966
HP:0033127	Abnormality of the musculoskeletal system	54968	TMEM70	OMIM:614052
HP:0033127	Abnormality of the musculoskeletal system	4330	MN1	OMIM:618774
HP:0033127	Abnormality of the musculoskeletal system	5528	PPP2R5D	OMIM:616355
HP:0033127	Abnormality of the musculoskeletal system	5528	PPP2R5D	ORPHA:457279
HP:0033127	Abnormality of the musculoskeletal system	39	ACAT2	OMIM:614055
HP:0033127	Abnormality of the musculoskeletal system	1187	CLCNKA	OMIM:613090
HP:0033127	Abnormality of the musculoskeletal system	339983	NAT8L	OMIM:614063
HP:0033127	Abnormality of the musculoskeletal system	29081	METTL5	OMIM:618665
HP:0033127	Abnormality of the musculoskeletal system	8879	SGPL1	OMIM:617575
HP:0033127	Abnormality of the musculoskeletal system	84504	NKX6-2	ORPHA:527497
HP:0033127	Abnormality of the musculoskeletal system	55773	TBC1D23	OMIM:617695
HP:0033127	Abnormality of the musculoskeletal system	8558	CDK10	OMIM:617694
HP:0033127	Abnormality of the musculoskeletal system	92609	TIMM50	OMIM:617698
HP:0033127	Abnormality of the musculoskeletal system	8021	NUP214	OMIM:618426
HP:0033127	Abnormality of the musculoskeletal system	166785	MMAA	OMIM:251100
HP:0033127	Abnormality of the musculoskeletal system	5551	PRF1	OMIM:603553
HP:0033127	Abnormality of the musculoskeletal system	122961	ISCA2	OMIM:616370
HP:0033127	Abnormality of the musculoskeletal system	8733	GPAA1	ORPHA:529665
HP:0033127	Abnormality of the musculoskeletal system	7358	UGDH	OMIM:618792
HP:0033127	Abnormality of the musculoskeletal system	59336	PRDM13	OMIM:619761
HP:0033127	Abnormality of the musculoskeletal system	200424	TET3	OMIM:618798
HP:0033127	Abnormality of the musculoskeletal system	9772	TMEM94	OMIM:618316
HP:0033127	Abnormality of the musculoskeletal system	51567	TDP2	ORPHA:404493
HP:0033127	Abnormality of the musculoskeletal system	51567	TDP2	OMIM:616949
HP:0033127	Abnormality of the musculoskeletal system	4351	MPI	OMIM:602579
HP:0033127	Abnormality of the musculoskeletal system	9922	IQSEC1	OMIM:618687
HP:0033127	Abnormality of the musculoskeletal system	2562	GABRB3	OMIM:617113
HP:0033127	Abnormality of the musculoskeletal system	64919	BCL11B	OMIM:617237
HP:0033127	Abnormality of the musculoskeletal system	57192	MCOLN1	OMIM:252650
HP:0033127	Abnormality of the musculoskeletal system	1967	EIF2B1	OMIM:603896
HP:0033127	Abnormality of the musculoskeletal system	1892	ECHS1	OMIM:616277
HP:0033127	Abnormality of the musculoskeletal system	27429	HTRA2	OMIM:617248
HP:0033127	Abnormality of the musculoskeletal system	7080	NKX2-1	OMIM:610978
HP:0033127	Abnormality of the musculoskeletal system	8506	CNTNAP1	OMIM:616286
HP:0033127	Abnormality of the musculoskeletal system	54517	PUS7	OMIM:618342
HP:0033127	Abnormality of the musculoskeletal system	57102	C12orf4	OMIM:618221
HP:0033127	Abnormality of the musculoskeletal system	10564	ARFGEF2	OMIM:608097
HP:0033127	Abnormality of the musculoskeletal system	9256	TSPOAP1	ORPHA:101150
HP:0033127	Abnormality of the musculoskeletal system	7054	TH	ORPHA:101150
HP:0033127	Abnormality of the musculoskeletal system	10102	TSFM	OMIM:610505
HP:0033127	Abnormality of the musculoskeletal system	3708	ITPR1	ORPHA:208513
HP:0033127	Abnormality of the musculoskeletal system	3708	ITPR1	OMIM:206700
HP:0033127	Abnormality of the musculoskeletal system	1120	CHKB	OMIM:602541
HP:0033127	Abnormality of the musculoskeletal system	56521	DNAJC12	OMIM:617384
HP:0033127	Abnormality of the musculoskeletal system	57520	HECW2	OMIM:617268
HP:0033127	Abnormality of the musculoskeletal system	1654	DDX3X	ORPHA:457260
HP:0033127	Abnormality of the musculoskeletal system	10166	SLC25A15	ORPHA:415
HP:0033127	Abnormality of the musculoskeletal system	3192	HNRNPU	OMIM:617391
HP:0033127	Abnormality of the musculoskeletal system	55967	NDUFA12	OMIM:618244
HP:0033127	Abnormality of the musculoskeletal system	11274	USP18	OMIM:617397
HP:0033127	Abnormality of the musculoskeletal system	201163	FLCN	OMIM:610883
HP:0033127	Abnormality of the musculoskeletal system	2019	EN1	OMIM:619218
HP:0033127	Abnormality of the musculoskeletal system	23203	PMPCA	OMIM:213200
HP:0033127	Abnormality of the musculoskeletal system	4864	NPC1	OMIM:257220
HP:0033127	Abnormality of the musculoskeletal system	6821	SUOX	OMIM:272300
HP:0033127	Abnormality of the musculoskeletal system	2898	GRIK2	OMIM:619580
HP:0033127	Abnormality of the musculoskeletal system	1781	DYNC1I2	OMIM:618492
HP:0033127	Abnormality of the musculoskeletal system	56776	FMN2	OMIM:616193
HP:0033127	Abnormality of the musculoskeletal system	7809	BSND	OMIM:602522
HP:0033127	Abnormality of the musculoskeletal system	26276	VPS33B	OMIM:208085
HP:0033127	Abnormality of the musculoskeletal system	63931	MRPS14	OMIM:618378
HP:0033127	Abnormality of the musculoskeletal system	54681	P4HTM	OMIM:618493
HP:0033127	Abnormality of the musculoskeletal system	4714	NDUFB8	OMIM:618252
HP:0033127	Abnormality of the musculoskeletal system	4126	MANBA	OMIM:248510
HP:0033127	Abnormality of the musculoskeletal system	4990	SIX6	OMIM:206900
HP:0033127	Abnormality of the musculoskeletal system	6657	SOX2	OMIM:206900
HP:0033127	Abnormality of the musculoskeletal system	4548	MTR	OMIM:250940
HP:0033127	Abnormality of the musculoskeletal system	139411	PTCHD1	OMIM:300830
HP:0033127	Abnormality of the musculoskeletal system	51095	TRNT1	OMIM:616084
HP:0033127	Abnormality of the musculoskeletal system	64849	SLC13A3	OMIM:618384
HP:0033127	Abnormality of the musculoskeletal system	348180	CTU2	OMIM:618142
HP:0033127	Abnormality of the musculoskeletal system	4361	MRE11	ORPHA:251347
HP:0033127	Abnormality of the musculoskeletal system	788	SLC25A20	OMIM:212138
HP:0033127	Abnormality of the musculoskeletal system	4983	OPHN1	ORPHA:137831
HP:0033127	Abnormality of the musculoskeletal system	4983	OPHN1	OMIM:300486
HP:0033127	Abnormality of the musculoskeletal system	31	ACACA	OMIM:613933
HP:0033127	Abnormality of the musculoskeletal system	90522	YIF1B	OMIM:619125
HP:0033127	Abnormality of the musculoskeletal system	5058	PAK1	OMIM:618158
HP:0033127	Abnormality of the musculoskeletal system	22983	MAST1	OMIM:618273
HP:0033127	Abnormality of the musculoskeletal system	79143	MBOAT7	OMIM:617188
HP:0033127	Abnormality of the musculoskeletal system	5625	PRODH	OMIM:239500
HP:0033127	Abnormality of the musculoskeletal system	201595	STT3B	ORPHA:370924
HP:0033127	Abnormality of the musculoskeletal system	1650	DDOST	ORPHA:300536
HP:0033127	Abnormality of the musculoskeletal system	6748	SSR4	ORPHA:370927
HP:0033127	Abnormality of the musculoskeletal system	6748	SSR4	OMIM:300934
HP:0033127	Abnormality of the musculoskeletal system	9895	TECPR2	ORPHA:320385
HP:0033127	Abnormality of the musculoskeletal system	84153	RNASEH2C	OMIM:610329
HP:0033127	Abnormality of the musculoskeletal system	871	SERPINH1	OMIM:613848
HP:0033127	Abnormality of the musculoskeletal system	168667	BMPER	OMIM:608022
HP:0033127	Abnormality of the musculoskeletal system	6095	RORA	OMIM:618060
HP:0033127	Abnormality of the musculoskeletal system	158	ADSL	OMIM:103050
HP:0033127	Abnormality of the musculoskeletal system	158	ADSL	ORPHA:46
HP:0033127	Abnormality of the musculoskeletal system	1183	CLCN4	OMIM:300114
HP:0033127	Abnormality of the musculoskeletal system	10046	MAMLD1	ORPHA:456328
HP:0033127	Abnormality of the musculoskeletal system	6834	SURF1	OMIM:220110
HP:0033127	Abnormality of the musculoskeletal system	2904	GRIN2B	OMIM:613970
HP:0033127	Abnormality of the musculoskeletal system	85300	ATCAY	ORPHA:94122
HP:0033127	Abnormality of the musculoskeletal system	4758	NEU1	OMIM:256550
HP:0033127	Abnormality of the musculoskeletal system	8443	GNPAT	OMIM:222765
HP:0033127	Abnormality of the musculoskeletal system	6341	SCO1	OMIM:619048
HP:0033127	Abnormality of the musculoskeletal system	6311	ATXN2	OMIM:183090
HP:0033127	Abnormality of the musculoskeletal system	6311	ATXN2	ORPHA:98756
HP:0033127	Abnormality of the musculoskeletal system	1352	COX10	OMIM:619046
HP:0033127	Abnormality of the musculoskeletal system	55788	LMBRD1	OMIM:277380
HP:0033127	Abnormality of the musculoskeletal system	3141	HLCS	OMIM:253270
HP:0033127	Abnormality of the musculoskeletal system	57582	KCNT1	OMIM:614959
HP:0033127	Abnormality of the musculoskeletal system	9382	COG1	ORPHA:263508
HP:0033127	Abnormality of the musculoskeletal system	1340	COX6B1	OMIM:619051
HP:0033127	Abnormality of the musculoskeletal system	1185	CLCN6	OMIM:619173
HP:0033127	Abnormality of the musculoskeletal system	1738	DLD	ORPHA:2394
HP:0033127	Abnormality of the musculoskeletal system	3766	KCNJ10	OMIM:612780
HP:0033127	Abnormality of the musculoskeletal system	9739	SETD1A	OMIM:619056
HP:0033127	Abnormality of the musculoskeletal system	5119	CHMP1A	OMIM:614961
HP:0033127	Abnormality of the musculoskeletal system	966	CD59	OMIM:612300
HP:0033127	Abnormality of the musculoskeletal system	7841	MOGS	OMIM:606056
HP:0033127	Abnormality of the musculoskeletal system	64087	MCCC2	OMIM:210210
HP:0033127	Abnormality of the musculoskeletal system	1339	COX6A2	OMIM:619062
HP:0033127	Abnormality of the musculoskeletal system	4598	MVK	OMIM:610377
HP:0033127	Abnormality of the musculoskeletal system	56922	MCCC1	OMIM:210200
HP:0033127	Abnormality of the musculoskeletal system	113235	SLC46A1	OMIM:229050
HP:0033127	Abnormality of the musculoskeletal system	63894	VIPAS39	OMIM:613404
HP:0033127	Abnormality of the musculoskeletal system	2752	GLUL	OMIM:610015
HP:0033127	Abnormality of the musculoskeletal system	84947	SERAC1	OMIM:614739
HP:0033127	Abnormality of the musculoskeletal system	28976	ACAD9	ORPHA:99901
HP:0033127	Abnormality of the musculoskeletal system	28976	ACAD9	OMIM:611126
HP:0033127	Abnormality of the musculoskeletal system	7915	ALDH5A1	OMIM:271980
HP:0033127	Abnormality of the musculoskeletal system	2615	LRRC32	OMIM:619074
HP:0033127	Abnormality of the musculoskeletal system	1629	DBT	OMIM:248600
HP:0033127	Abnormality of the musculoskeletal system	593	BCKDHA	OMIM:248600
HP:0033127	Abnormality of the musculoskeletal system	594	BCKDHB	OMIM:248600
HP:0033127	Abnormality of the musculoskeletal system	51660	MPC1	OMIM:614741
HP:0033127	Abnormality of the musculoskeletal system	6660	SOX5	OMIM:616803
HP:0033127	Abnormality of the musculoskeletal system	90624	LYRM7	OMIM:615838
HP:0033127	Abnormality of the musculoskeletal system	10056	FARSB	OMIM:613658
HP:0033127	Abnormality of the musculoskeletal system	5582	PRKCG	ORPHA:98763
HP:0033127	Abnormality of the musculoskeletal system	6558	SLC12A2	OMIM:619083
HP:0033127	Abnormality of the musculoskeletal system	6558	SLC12A2	OMIM:619080
HP:0033127	Abnormality of the musculoskeletal system	25814	ATXN10	ORPHA:98761
HP:0033127	Abnormality of the musculoskeletal system	8905	AP1S2	ORPHA:85329
HP:0033127	Abnormality of the musculoskeletal system	284217	LAMA1	OMIM:615960
HP:0033127	Abnormality of the musculoskeletal system	5340	PLG	OMIM:217090
HP:0033127	Abnormality of the musculoskeletal system	10472	ZBTB18	OMIM:612337
HP:0033127	Abnormality of the musculoskeletal system	25828	TXN2	OMIM:616811
HP:0033127	Abnormality of the musculoskeletal system	5092	PCBD1	OMIM:264070
HP:0033127	Abnormality of the musculoskeletal system	9147	NEMF	OMIM:619099
HP:0033127	Abnormality of the musculoskeletal system	27086	FOXP1	OMIM:613670
HP:0033127	Abnormality of the musculoskeletal system	26047	CNTNAP2	OMIM:610042
HP:0033127	Abnormality of the musculoskeletal system	1374	CPT1A	OMIM:255120
HP:0033127	Abnormality of the musculoskeletal system	9928	KIF14	OMIM:617914
HP:0033127	Abnormality of the musculoskeletal system	147007	TMEM199	OMIM:616829
HP:0033127	Abnormality of the musculoskeletal system	84317	CCDC115	OMIM:616828
HP:0033127	Abnormality of the musculoskeletal system	667	DST	OMIM:614653
HP:0033127	Abnormality of the musculoskeletal system	57017	COQ9	OMIM:614654
HP:0033127	Abnormality of the musculoskeletal system	56052	ALG1	OMIM:608540
HP:0033127	Abnormality of the musculoskeletal system	54704	PDP1	OMIM:608782
HP:0033127	Abnormality of the musculoskeletal system	3033	HADH	OMIM:231530
HP:0033127	Abnormality of the musculoskeletal system	2632	GBE1	OMIM:232500
HP:0033127	Abnormality of the musculoskeletal system	7167	TPI1	OMIM:615512
HP:0033127	Abnormality of the musculoskeletal system	29926	GMPPA	OMIM:615510
HP:0033127	Abnormality of the musculoskeletal system	2290	FOXG1	OMIM:613454
HP:0033127	Abnormality of the musculoskeletal system	53616	ADAM22	OMIM:617933
HP:0033127	Abnormality of the musculoskeletal system	27249	MMADHC	OMIM:277410
HP:0033127	Abnormality of the musculoskeletal system	26115	TANC2	OMIM:618906
HP:0033127	Abnormality of the musculoskeletal system	4618	MYF6	ORPHA:169189
HP:0033127	Abnormality of the musculoskeletal system	5160	PDHA1	OMIM:312170
HP:0033127	Abnormality of the musculoskeletal system	10229	COQ7	OMIM:616733
HP:0033127	Abnormality of the musculoskeletal system	7280	TUBB2A	OMIM:615763
HP:0033127	Abnormality of the musculoskeletal system	64221	ROBO3	OMIM:607313
HP:0033127	Abnormality of the musculoskeletal system	3778	KCNMA1	ORPHA:79137
HP:0033127	Abnormality of the musculoskeletal system	3778	KCNMA1	OMIM:617643
HP:0033127	Abnormality of the musculoskeletal system	2895	GRID2	ORPHA:363432
HP:0033127	Abnormality of the musculoskeletal system	6709	SPTAN1	OMIM:613477
HP:0033127	Abnormality of the musculoskeletal system	9378	NRXN1	OMIM:614325
HP:0033127	Abnormality of the musculoskeletal system	4594	MMUT	OMIM:251000
HP:0033127	Abnormality of the musculoskeletal system	1105	CHD1	ORPHA:529965
HP:0033127	Abnormality of the musculoskeletal system	57511	COG6	OMIM:614576
HP:0033127	Abnormality of the musculoskeletal system	23065	EMC1	OMIM:616875
HP:0033127	Abnormality of the musculoskeletal system	128637	TBC1D20	OMIM:615663
HP:0033127	Abnormality of the musculoskeletal system	175	AGA	OMIM:208400
HP:0033127	Abnormality of the musculoskeletal system	128989	TANGO2	OMIM:616878
HP:0033127	Abnormality of the musculoskeletal system	57531	HACE1	OMIM:616756
HP:0033127	Abnormality of the musculoskeletal system	4644	MYO5A	ORPHA:79476
HP:0033127	Abnormality of the musculoskeletal system	326625	MMAB	OMIM:251110
HP:0033127	Abnormality of the musculoskeletal system	2464	FRA16E	OMIM:136570
HP:0033127	Abnormality of the musculoskeletal system	11019	LIAS	OMIM:614462
HP:0033127	Abnormality of the musculoskeletal system	23443	SLC35A3	OMIM:615553
HP:0033127	Abnormality of the musculoskeletal system	64857	PLEKHG2	OMIM:616763
HP:0033127	Abnormality of the musculoskeletal system	51520	LARS1	OMIM:615438
HP:0033127	Abnormality of the musculoskeletal system	10128	LRPPRC	ORPHA:70472
HP:0033127	Abnormality of the musculoskeletal system	26503	SLC17A5	OMIM:604369
HP:0033127	Abnormality of the musculoskeletal system	26503	SLC17A5	OMIM:269920
HP:0033127	Abnormality of the musculoskeletal system	5162	PDHB	OMIM:614111
HP:0033127	Abnormality of the musculoskeletal system	83737	ITCH	OMIM:613385
HP:0033127	Abnormality of the musculoskeletal system	2670	GFAP	ORPHA:363717
HP:0033127	Abnormality of the musculoskeletal system	617	BCS1L	OMIM:124000
HP:0033127	Abnormality of the musculoskeletal system	95	ACY1	OMIM:609924
HP:0033127	Abnormality of the musculoskeletal system	54802	TRIT1	OMIM:617873
HP:0033127	Abnormality of the musculoskeletal system	51780	KDM3B	OMIM:618846
HP:0033127	Abnormality of the musculoskeletal system	5538	PPT1	OMIM:256730
HP:0033127	Abnormality of the musculoskeletal system	5455	POU3F3	OMIM:618604
HP:0033127	Abnormality of the musculoskeletal system	738	VPS51	OMIM:618606
HP:0033127	Abnormality of the musculoskeletal system	5430	POLR2A	OMIM:618603
HP:0033127	Abnormality of the musculoskeletal system	1585	CYP11B2	ORPHA:556030
HP:0033127	Abnormality of the musculoskeletal system	1468	SLC25A10	OMIM:618972
HP:0033127	Abnormality of the musculoskeletal system	5087	PBX1	OMIM:617641
HP:0033127	Abnormality of the musculoskeletal system	115286	SLC25A26	OMIM:616794
HP:0033127	Abnormality of the musculoskeletal system	6833	ABCC8	OMIM:618857
HP:0033127	Abnormality of the musculoskeletal system	4858	NOVA2	OMIM:618859
HP:0033127	Abnormality of the musculoskeletal system	1460	CSNK2B	OMIM:618732
HP:0033127	Abnormality of the musculoskeletal system	22868	FASTKD2	OMIM:618855
HP:0033127	Abnormality of the musculoskeletal system	25974	MMACHC	OMIM:277400
HP:0033127	Abnormality of the musculoskeletal system	5052	PRDX1	OMIM:277400
HP:0033127	Abnormality of the musculoskeletal system	2582	GALE	OMIM:230350
HP:0033127	Abnormality of the musculoskeletal system	4081	MAB21L1	OMIM:618479
HP:0033127	Abnormality of the musculoskeletal system	375748	ERCC6L2	OMIM:615715
HP:0033127	Abnormality of the musculoskeletal system	54916	TMEM260	OMIM:617478
HP:0033127	Abnormality of the musculoskeletal system	6927	HNF1A	ORPHA:324575
HP:0033127	Abnormality of the musculoskeletal system	57107	PDSS2	OMIM:614652
HP:0033127	Abnormality of the musculoskeletal system	51807	TUBA8	ORPHA:250972
HP:0033127	Abnormality of the musculoskeletal system	7707	ZNF148	OMIM:617260
HP:0033127	Abnormality of the musculoskeletal system	3172	HNF4A	ORPHA:263455
HP:0033127	Abnormality of the musculoskeletal system	23040	MYT1L	OMIM:616521
HP:0033127	Abnormality of the musculoskeletal system	6772	STAT1	OMIM:614162
HP:0033127	Abnormality of the musculoskeletal system	84133	ZNRF3	ORPHA:1501
HP:0033127	Abnormality of the musculoskeletal system	1029	CDKN2A	ORPHA:1501
HP:0033127	Abnormality of the musculoskeletal system	54840	APTX	OMIM:208920
HP:0033127	Abnormality of the musculoskeletal system	54902	TTC19	OMIM:615157
HP:0033127	Abnormality of the musculoskeletal system	513	ATP5F1D	OMIM:618120
HP:0033127	Abnormality of the musculoskeletal system	212	ALAS2	ORPHA:75563
HP:0033127	Abnormality of the musculoskeletal system	54800	KLHL24	OMIM:620236
HP:0033127	Abnormality of the musculoskeletal system	1181	CLCN2	ORPHA:404
HP:0033127	Abnormality of the musculoskeletal system	54936	ADPRS	OMIM:618170
HP:0033127	Abnormality of the musculoskeletal system	5371	PML	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	5914	RARA	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	359948	IRF2BP2	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	81608	FIP1L1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	64859	NABP1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	6777	STAT5B	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	4926	NUMA1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	7704	ZBTB16	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	57562	CEP126	ORPHA:65684
HP:0033127	Abnormality of the musculoskeletal system	1175	AP2S1	OMIM:600740
HP:0033127	Abnormality of the musculoskeletal system	54805	CNNM2	OMIM:613882
HP:0033127	Abnormality of the musculoskeletal system	374393	FAM111B	OMIM:615704
HP:0033127	Abnormality of the musculoskeletal system	3475	IFRD1	ORPHA:98771
HP:0033127	Abnormality of the musculoskeletal system	8074	FGF23	ORPHA:89937
HP:0033127	Abnormality of the musculoskeletal system	7234	TRU-TCA1-1	OMIM:620198
HP:0033127	Abnormality of the musculoskeletal system	710	SERPING1	OMIM:106100
HP:0033127	Abnormality of the musculoskeletal system	7200	TRH	OMIM:275120
HP:0033127	Abnormality of the musculoskeletal system	6301	SARS1	OMIM:617709
HP:0033127	Abnormality of the musculoskeletal system	2821	GPI	OMIM:613470
HP:0033127	Abnormality of the musculoskeletal system	79572	ATP13A3	OMIM:265400
HP:0033127	Abnormality of the musculoskeletal system	20	ABCA2	OMIM:618808
HP:0033127	Abnormality of the musculoskeletal system	11280	SCN11A	OMIM:615548
HP:0033127	Abnormality of the musculoskeletal system	5498	PPOX	ORPHA:79473
HP:0033127	Abnormality of the musculoskeletal system	203228	C9orf72	OMIM:105550
HP:0033127	Abnormality of the musculoskeletal system	6182	MRPL12	OMIM:618951
HP:0033127	Abnormality of the musculoskeletal system	4780	NFE2L2	OMIM:617744
HP:0033127	Abnormality of the musculoskeletal system	23533	PIK3R5	OMIM:615217
HP:0033127	Abnormality of the musculoskeletal system	57502	NLGN4X	OMIM:300495
HP:0033127	Abnormality of the musculoskeletal system	1807	DPYS	OMIM:222748
HP:0033127	Abnormality of the musculoskeletal system	57647	DHX37	OMIM:618731
HP:0033127	Abnormality of the musculoskeletal system	284361	EMC10	OMIM:619264
HP:0033127	Abnormality of the musculoskeletal system	10584	COLEC10	ORPHA:293843
HP:0033127	Abnormality of the musculoskeletal system	8974	P4HA2	ORPHA:397
HP:0033127	Abnormality of the musculoskeletal system	356	FASLG	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	5580	PRKCD	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	5580	PRKCD	OMIM:615559
HP:0033127	Abnormality of the musculoskeletal system	843	CASP10	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	10125	RASGRP1	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	987	LRBA	OMIM:614700
HP:0033127	Abnormality of the musculoskeletal system	6696	SPP1	ORPHA:93552
HP:0033127	Abnormality of the musculoskeletal system	3654	IRAK1	ORPHA:93552
HP:0033127	Abnormality of the musculoskeletal system	50943	FOXP3	OMIM:304790
HP:0033127	Abnormality of the musculoskeletal system	56983	POGLUT1	ORPHA:79145
HP:0033127	Abnormality of the musculoskeletal system	23509	POFUT1	ORPHA:79145
HP:0033127	Abnormality of the musculoskeletal system	55851	PSENEN	ORPHA:79145
HP:0033127	Abnormality of the musculoskeletal system	5896	RAG1	OMIM:601457
HP:0033127	Abnormality of the musculoskeletal system	5897	RAG2	OMIM:601457
HP:0033127	Abnormality of the musculoskeletal system	7018	TF	ORPHA:1195
HP:0033127	Abnormality of the musculoskeletal system	105371045	PERCC1	ORPHA:92050
HP:0033127	Abnormality of the musculoskeletal system	1493	CTLA4	OMIM:616100
HP:0033127	Abnormality of the musculoskeletal system	1493	CTLA4	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	3107	HLA-C	OMIM:177900
HP:0033127	Abnormality of the musculoskeletal system	30011	SH3KBP1	OMIM:300310
HP:0033127	Abnormality of the musculoskeletal system	3236	HOXD10	OMIM:192950
HP:0033127	Abnormality of the musculoskeletal system	540	ATP7B	ORPHA:905
HP:0033127	Abnormality of the musculoskeletal system	7456	WIPF1	ORPHA:906
HP:0033127	Abnormality of the musculoskeletal system	7036	TFR2	OMIM:604250
HP:0033127	Abnormality of the musculoskeletal system	1314	COPA	OMIM:616414
HP:0033127	Abnormality of the musculoskeletal system	91662	NLRP12	OMIM:611762
HP:0033127	Abnormality of the musculoskeletal system	3662	IRF4	ORPHA:3452
HP:0033127	Abnormality of the musculoskeletal system	695	BTK	ORPHA:47
HP:0033127	Abnormality of the musculoskeletal system	3593	IL12B	ORPHA:3287
HP:0033127	Abnormality of the musculoskeletal system	6945	MLX	ORPHA:3287
HP:0033127	Abnormality of the musculoskeletal system	6850	SYK	OMIM:619381
HP:0033127	Abnormality of the musculoskeletal system	2000	ELF4	OMIM:301074
HP:0033127	Abnormality of the musculoskeletal system	2212	FCGR2A	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	2213	FCGR2B	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	1773	DNASE1	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	165918	RNF168	ORPHA:420741
HP:0033127	Abnormality of the musculoskeletal system	6929	TCF3	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	973	CD79A	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	974	CD79B	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	3543	IGLL1	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	3507	IGHM	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	29760	BLNK	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	56262	LRRC8A	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	4929	NR4A2	ORPHA:98808
HP:0033127	Abnormality of the musculoskeletal system	3615	IMPDH2	ORPHA:98808
HP:0033127	Abnormality of the musculoskeletal system	3514	IGKC	ORPHA:183675
HP:0033127	Abnormality of the musculoskeletal system	3501	IGHG2	ORPHA:183675
HP:0033127	Abnormality of the musculoskeletal system	4312	MMP1	ORPHA:79408
HP:0033127	Abnormality of the musculoskeletal system	4312	MMP1	OMIM:226600
HP:0033127	Abnormality of the musculoskeletal system	23250	ATP11A	OMIM:619851
HP:0033127	Abnormality of the musculoskeletal system	8882	ZPR1	OMIM:619321
HP:0033127	Abnormality of the musculoskeletal system	23729	SHPK	ORPHA:440713
HP:0033127	Abnormality of the musculoskeletal system	6331	SCN5A	ORPHA:1344
HP:0033127	Abnormality of the musculoskeletal system	4878	NPPA	ORPHA:1344
HP:0033127	Abnormality of the musculoskeletal system	7965	AIMP2	OMIM:618006
HP:0033127	Abnormality of the musculoskeletal system	84081	NSRP1	OMIM:620001
HP:0033127	Abnormality of the musculoskeletal system	1776	DNASE1L3	ORPHA:36412
HP:0033127	Abnormality of the musculoskeletal system	6495	SIX1	OMIM:113650
HP:0033127	Abnormality of the musculoskeletal system	7067	THRA	OMIM:614450
HP:0033127	Abnormality of the musculoskeletal system	30061	SLC40A1	ORPHA:139491
HP:0033127	Abnormality of the musculoskeletal system	242	ALOX12B	ORPHA:281122
HP:0033127	Abnormality of the musculoskeletal system	59344	ALOXE3	ORPHA:281122
HP:0033127	Abnormality of the musculoskeletal system	7051	TGM1	ORPHA:281122
HP:0033127	Abnormality of the musculoskeletal system	9051	PSTPIP1	ORPHA:69126
HP:0033127	Abnormality of the musculoskeletal system	26057	ANKRD17	OMIM:619504
HP:0033127	Abnormality of the musculoskeletal system	53335	BCL11A	OMIM:617101
HP:0033127	Abnormality of the musculoskeletal system	84905	ZNF341	OMIM:618282
HP:0033127	Abnormality of the musculoskeletal system	11141	IL1RAPL1	OMIM:300143
HP:0033127	Abnormality of the musculoskeletal system	23309	SIN3B	ORPHA:500166
HP:0033127	Abnormality of the musculoskeletal system	7372	UMPS	ORPHA:30
HP:0033127	Abnormality of the musculoskeletal system	153642	ARSK	OMIM:619698
HP:0033127	Abnormality of the musculoskeletal system	2799	GNS	OMIM:252940
HP:0033127	Abnormality of the musculoskeletal system	11200	CHEK2	ORPHA:668
HP:0033127	Abnormality of the musculoskeletal system	2243	FGA	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	2244	FGB	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	2266	FGG	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	3557	IL1RN	OMIM:612852
HP:0033127	Abnormality of the musculoskeletal system	54507	ADAMTSL4	ORPHA:1885
HP:0033127	Abnormality of the musculoskeletal system	340061	STING1	OMIM:615934
HP:0033127	Abnormality of the musculoskeletal system	25953	PNKD	ORPHA:98810
HP:0033127	Abnormality of the musculoskeletal system	493856	CISD2	ORPHA:3463
HP:0033127	Abnormality of the musculoskeletal system	7466	WFS1	ORPHA:3463
HP:0033127	Abnormality of the musculoskeletal system	6448	SGSH	OMIM:252900
HP:0033127	Abnormality of the musculoskeletal system	3889	KRT83	OMIM:617756
HP:0033127	Abnormality of the musculoskeletal system	138050	HGSNAT	OMIM:252930
HP:0033127	Abnormality of the musculoskeletal system	54829	ASPN	OMIM:607850
HP:0033127	Abnormality of the musculoskeletal system	4669	NAGLU	OMIM:252920
HP:0033127	Abnormality of the musculoskeletal system	55084	SOBP	OMIM:613671
HP:0033127	Abnormality of the musculoskeletal system	6857	SYT1	OMIM:618218
HP:0033127	Abnormality of the musculoskeletal system	6857	SYT1	ORPHA:522077
HP:0033127	Abnormality of the musculoskeletal system	55603	TENT5A	OMIM:617952
HP:0033127	Abnormality of the musculoskeletal system	401	PHOX2A	OMIM:602078
HP:0033127	Abnormality of the musculoskeletal system	55605	KIF21A	OMIM:135700
HP:0033127	Abnormality of the musculoskeletal system	25802	LMOD1	ORPHA:2241
HP:0033127	Abnormality of the musculoskeletal system	6049	RNF6	ORPHA:99977
HP:0033127	Abnormality of the musculoskeletal system	9940	DLEC1	ORPHA:99977
HP:0033127	Abnormality of the musculoskeletal system	51726	DNAJB11	OMIM:618061
HP:0033127	Abnormality of the musculoskeletal system	7369	UMOD	OMIM:162000
HP:0033127	Abnormality of the musculoskeletal system	6928	HNF1B	OMIM:137920
HP:0033127	Abnormality of the musculoskeletal system	29927	SEC61A1	OMIM:617056
HP:0033127	Abnormality of the musculoskeletal system	2538	G6PC1	OMIM:232200
HP:0033127	Abnormality of the musculoskeletal system	4582	MUC1	OMIM:174000
HP:0033127	Abnormality of the musculoskeletal system	1188	CLCNKB	ORPHA:358
HP:0033127	Abnormality of the musculoskeletal system	6559	SLC12A3	ORPHA:358
HP:0033127	Abnormality of the musculoskeletal system	2542	SLC37A4	OMIM:232220
HP:0033127	Abnormality of the musculoskeletal system	2542	SLC37A4	OMIM:232240
HP:0033127	Abnormality of the musculoskeletal system	2542	SLC37A4	ORPHA:79259
HP:0033127	Abnormality of the musculoskeletal system	2038	EPB42	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6521	SLC4A1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6710	SPTB	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6708	SPTA1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	286	ANK1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	4040	LRP6	OMIM:610947
HP:0033127	Abnormality of the musculoskeletal system	2035	EPB41	ORPHA:288
HP:0033127	Abnormality of the musculoskeletal system	2995	GYPC	ORPHA:288
HP:0033127	Abnormality of the musculoskeletal system	116442	RAB39B	OMIM:311510
HP:0033127	Abnormality of the musculoskeletal system	116442	RAB39B	ORPHA:2379
HP:0033127	Abnormality of the musculoskeletal system	55181	SMG8	OMIM:619268
HP:0033127	Abnormality of the musculoskeletal system	4792	NFKBIA	OMIM:612132
HP:0033127	Abnormality of the musculoskeletal system	10913	EDAR	OMIM:224900
HP:0033127	Abnormality of the musculoskeletal system	84520	GON7	OMIM:619603
HP:0033127	Abnormality of the musculoskeletal system	200403	VWA3B	OMIM:616948
HP:0033127	Abnormality of the musculoskeletal system	84274	COQ5	OMIM:619028
HP:0033127	Abnormality of the musculoskeletal system	7384	UQCRC1	OMIM:619279
HP:0033127	Abnormality of the musculoskeletal system	4016	LOXL1	OMIM:177650
HP:0033127	Abnormality of the musculoskeletal system	10501	SEMA6B	OMIM:618876
HP:0033127	Abnormality of the musculoskeletal system	11152	WDR45	ORPHA:329284
HP:0033127	Abnormality of the musculoskeletal system	11152	WDR45	OMIM:300894
HP:0033127	Abnormality of the musculoskeletal system	55037	PTCD3	OMIM:619057
HP:0033127	Abnormality of the musculoskeletal system	339453	TMEM240	ORPHA:98773
HP:0033127	Abnormality of the musculoskeletal system	1356	CP	ORPHA:48818
HP:0033127	Abnormality of the musculoskeletal system	51142	CHCHD2	OMIM:616710
HP:0033127	Abnormality of the musculoskeletal system	2747	GLUD2	OMIM:168600
HP:0033127	Abnormality of the musculoskeletal system	126	ADH1C	OMIM:168600
HP:0033127	Abnormality of the musculoskeletal system	9627	SNCAIP	OMIM:168600
HP:0033127	Abnormality of the musculoskeletal system	51663	ZFR	ORPHA:401840
HP:0033127	Abnormality of the musculoskeletal system	9636	ISG15	OMIM:616126
HP:0033127	Abnormality of the musculoskeletal system	84138	SLC7A6OS	OMIM:619191
HP:0033127	Abnormality of the musculoskeletal system	146057	TTBK2	ORPHA:98767
HP:0033127	Abnormality of the musculoskeletal system	2259	FGF14	ORPHA:98764
HP:0033127	Abnormality of the musculoskeletal system	5317	PKP1	ORPHA:158668
HP:0033127	Abnormality of the musculoskeletal system	10299	MARCHF6	OMIM:613608
HP:0033127	Abnormality of the musculoskeletal system	8996	NOL3	OMIM:614937
HP:0033127	Abnormality of the musculoskeletal system	3752	KCND3	ORPHA:98772
HP:0033127	Abnormality of the musculoskeletal system	3752	KCND3	OMIM:607346
HP:0033127	Abnormality of the musculoskeletal system	1600	DAB1	ORPHA:363710
HP:0033127	Abnormality of the musculoskeletal system	4702	NDUFA8	OMIM:619272
HP:0033127	Abnormality of the musculoskeletal system	25915	NDUFAF3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	51103	NDUFAF1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	91942	NDUFAF2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	51300	TIMMDC1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4716	NDUFB10	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4723	NDUFV1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	55572	FOXRED1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	284184	NDUFAF8	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	55863	TMEM126B	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4535	MT-ND1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4537	MT-ND3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4729	NDUFV2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4694	NDUFA1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4720	NDUFS2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4724	NDUFS4	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4724	NDUFS4	OMIM:252010
HP:0033127	Abnormality of the musculoskeletal system	4728	NDUFS8	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4722	NDUFS3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	79133	NDUFAF5	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	126328	NDUFA11	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	80224	NUBPL	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	29078	NDUFAF4	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	374291	NDUFS7	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4700	NDUFA6	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4536	MT-ND2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4719	NDUFS1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4715	NDUFB9	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	2775	GNAO1	OMIM:617493
HP:0033127	Abnormality of the musculoskeletal system	2775	GNAO1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	57128	LYRM4	OMIM:615595
HP:0033127	Abnormality of the musculoskeletal system	781	CACNA2D1	OMIM:620149
HP:0033127	Abnormality of the musculoskeletal system	781	CACNA2D1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6571	SLC18A2	ORPHA:352649
HP:0033127	Abnormality of the musculoskeletal system	6571	SLC18A2	OMIM:618049
HP:0033127	Abnormality of the musculoskeletal system	1605	DAG1	ORPHA:370997
HP:0033127	Abnormality of the musculoskeletal system	1605	DAG1	OMIM:616538
HP:0033127	Abnormality of the musculoskeletal system	3073	HEXA	OMIM:272800
HP:0033127	Abnormality of the musculoskeletal system	57165	GJC2	OMIM:608804
HP:0033127	Abnormality of the musculoskeletal system	55610	VPS50	OMIM:619685
HP:0033127	Abnormality of the musculoskeletal system	10659	CELF2	OMIM:619561
HP:0033127	Abnormality of the musculoskeletal system	10659	CELF2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51506	UFC1	OMIM:618076
HP:0033127	Abnormality of the musculoskeletal system	9342	SNAP29	ORPHA:66631
HP:0033127	Abnormality of the musculoskeletal system	9342	SNAP29	OMIM:609528
HP:0033127	Abnormality of the musculoskeletal system	443	ASPA	ORPHA:314918
HP:0033127	Abnormality of the musculoskeletal system	443	ASPA	ORPHA:314911
HP:0033127	Abnormality of the musculoskeletal system	84466	MEGF10	OMIM:614399
HP:0033127	Abnormality of the musculoskeletal system	84197	POMK	OMIM:615249
HP:0033127	Abnormality of the musculoskeletal system	51010	EXOSC3	OMIM:614678
HP:0033127	Abnormality of the musculoskeletal system	55768	NGLY1	ORPHA:404454
HP:0033127	Abnormality of the musculoskeletal system	55250	ELP2	OMIM:617270
HP:0033127	Abnormality of the musculoskeletal system	84340	GFM2	ORPHA:565624
HP:0033127	Abnormality of the musculoskeletal system	112939	NACC1	OMIM:617393
HP:0033127	Abnormality of the musculoskeletal system	100131801	PET100	OMIM:619055
HP:0033127	Abnormality of the musculoskeletal system	4705	NDUFA10	OMIM:618243
HP:0033127	Abnormality of the musculoskeletal system	9512	PMPCB	OMIM:617954
HP:0033127	Abnormality of the musculoskeletal system	816	CAMK2B	OMIM:617799
HP:0033127	Abnormality of the musculoskeletal system	191	AHCY	OMIM:613752
HP:0033127	Abnormality of the musculoskeletal system	191	AHCY	ORPHA:88618
HP:0033127	Abnormality of the musculoskeletal system	51079	NDUFA13	OMIM:618249
HP:0033127	Abnormality of the musculoskeletal system	819	CAMLG	OMIM:620201
HP:0033127	Abnormality of the musculoskeletal system	5805	PTS	ORPHA:13
HP:0033127	Abnormality of the musculoskeletal system	8802	SUCLG1	OMIM:245400
HP:0033127	Abnormality of the musculoskeletal system	6712	SPTBN2	OMIM:600224
HP:0033127	Abnormality of the musculoskeletal system	1327	COX4I1	OMIM:619060
HP:0033127	Abnormality of the musculoskeletal system	4633	MYL2	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	3679	ITGA7	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	9200	HACD1	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	2903	GRIN2A	ORPHA:289266
HP:0033127	Abnormality of the musculoskeletal system	388962	BOLA3	OMIM:614299
HP:0033127	Abnormality of the musculoskeletal system	10352	WARS2	ORPHA:572798
HP:0033127	Abnormality of the musculoskeletal system	84342	COG8	ORPHA:95428
HP:0033127	Abnormality of the musculoskeletal system	3737	KCNA2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1759	DNM1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1759	DNM1	OMIM:620352
HP:0033127	Abnormality of the musculoskeletal system	8120	AP3B2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	523	ATP6V1A	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	10991	SLC38A3	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51343	FZR1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	22906	TRAK1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2566	GABRG2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1917	EEF1A2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2561	GABRB2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	7532	YWHAG	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	79876	UBA5	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6328	SCN3A	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2558	GABRA5	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2906	GRIN2D	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	116150	NUS1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	774	CACNA1B	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1213	CLTC	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51741	WWOX	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	23334	SZT2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	348980	HCN1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6506	SLC1A2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	8867	SYNJ1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2258	FGF13	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3745	KCNB1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	284111	SLC13A5	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	25977	NECAP1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6334	SCN8A	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	22866	CNKSR2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	9568	GABBR2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	9568	GABBR2	OMIM:617904
HP:0033127	Abnormality of the musculoskeletal system	2555	GABRA2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	55152	DALRD3	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	26999	CYFIP2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	4915	NTRK2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	25973	PARS2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	23097	CDK19	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	64801	ARV1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	79947	DHDDS	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2257	FGF12	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3028	HSD17B10	ORPHA:391428
HP:0033127	Abnormality of the musculoskeletal system	8943	AP3D1	OMIM:617050
HP:0033127	Abnormality of the musculoskeletal system	84879	MFSD2A	OMIM:616486
HP:0033127	Abnormality of the musculoskeletal system	3747	KCNC2	OMIM:619913
HP:0033127	Abnormality of the musculoskeletal system	116115	ZNF526	OMIM:619877
HP:0033127	Abnormality of the musculoskeletal system	4191	MDH2	OMIM:617339
HP:0033127	Abnormality of the musculoskeletal system	9091	PIGQ	OMIM:618548
HP:0033127	Abnormality of the musculoskeletal system	9091	PIGQ	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	3251	HPRT1	OMIM:300322
HP:0033127	Abnormality of the musculoskeletal system	253959	RALGAPA1	OMIM:618797
HP:0033127	Abnormality of the musculoskeletal system	163175	LGI4	OMIM:617468
HP:0033127	Abnormality of the musculoskeletal system	4649	MYO9A	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	1103	CHAT	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	6572	SLC18A3	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	6616	SNAP25	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	57038	RARS2	OMIM:611523
HP:0033127	Abnormality of the musculoskeletal system	10681	GNB5	ORPHA:542306
HP:0033127	Abnormality of the musculoskeletal system	7355	SLC35A2	OMIM:300896
HP:0033127	Abnormality of the musculoskeletal system	111	ADCY5	OMIM:619651
HP:0033127	Abnormality of the musculoskeletal system	125988	MICOS13	OMIM:618329
HP:0033127	Abnormality of the musculoskeletal system	51227	PIGP	OMIM:617599
HP:0033127	Abnormality of the musculoskeletal system	51227	PIGP	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	9725	TMEM63A	OMIM:618688
HP:0033127	Abnormality of the musculoskeletal system	50628	GEMIN4	OMIM:617913
HP:0033127	Abnormality of the musculoskeletal system	2581	GALC	ORPHA:206436
HP:0033127	Abnormality of the musculoskeletal system	124454	EARS2	OMIM:614924
HP:0033127	Abnormality of the musculoskeletal system	1719	DHFR	OMIM:613839
HP:0033127	Abnormality of the musculoskeletal system	28962	OSTM1	OMIM:259720
HP:0033127	Abnormality of the musculoskeletal system	6567	SLC16A2	ORPHA:59
HP:0033127	Abnormality of the musculoskeletal system	64432	MRPS25	OMIM:619025
HP:0033127	Abnormality of the musculoskeletal system	8884	SLC5A6	OMIM:618973
HP:0033127	Abnormality of the musculoskeletal system	3658	IREB2	OMIM:618451
HP:0033127	Abnormality of the musculoskeletal system	221692	PHACTR1	OMIM:618298
HP:0033127	Abnormality of the musculoskeletal system	10243	GPHN	OMIM:615501
HP:0033127	Abnormality of the musculoskeletal system	3329	HSPD1	OMIM:612233
HP:0033127	Abnormality of the musculoskeletal system	8449	DHX16	OMIM:618733
HP:0033127	Abnormality of the musculoskeletal system	7407	VARS1	OMIM:617802
HP:0033127	Abnormality of the musculoskeletal system	27445	PCLO	OMIM:608027
HP:0033127	Abnormality of the musculoskeletal system	81603	TRIM8	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	79751	SLC25A22	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	150094	SIK1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	8573	CASK	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	2917	GRM7	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	6326	SCN2A	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	6324	SCN1B	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	4761	NEUROD2	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	7072	TIA1	OMIM:604454
HP:0033127	Abnormality of the musculoskeletal system	1410	CRYAB	OMIM:608810
HP:0033127	Abnormality of the musculoskeletal system	9782	MATR3	OMIM:606070
HP:0033127	Abnormality of the musculoskeletal system	9782	MATR3	ORPHA:600
HP:0033127	Abnormality of the musculoskeletal system	8291	DYSF	OMIM:254130
HP:0033127	Abnormality of the musculoskeletal system	50717	DCAF8	OMIM:610100
HP:0033127	Abnormality of the musculoskeletal system	2521	FUS	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	2521	FUS	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	8878	SQSTM1	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	7415	VCP	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	7415	VCP	ORPHA:52430
HP:0033127	Abnormality of the musculoskeletal system	7415	VCP	ORPHA:329478
HP:0033127	Abnormality of the musculoskeletal system	7415	VCP	ORPHA:435387
HP:0033127	Abnormality of the musculoskeletal system	23435	TARDBP	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	29110	TBK1	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	400916	CHCHD10	ORPHA:275872
HP:0033127	Abnormality of the musculoskeletal system	4625	MYH7	ORPHA:59135
HP:0033127	Abnormality of the musculoskeletal system	4625	MYH7	OMIM:160500
HP:0033127	Abnormality of the musculoskeletal system	9499	MYOT	ORPHA:266
HP:0033127	Abnormality of the musculoskeletal system	7879	RAB7A	OMIM:600882
HP:0033127	Abnormality of the musculoskeletal system	2617	GARS1	OMIM:619042
HP:0033127	Abnormality of the musculoskeletal system	2617	GARS1	OMIM:601472
HP:0033127	Abnormality of the musculoskeletal system	2617	GARS1	OMIM:600794
HP:0033127	Abnormality of the musculoskeletal system	3074	HEXB	ORPHA:309162
HP:0033127	Abnormality of the musculoskeletal system	7273	TTN	OMIM:608807
HP:0033127	Abnormality of the musculoskeletal system	7273	TTN	ORPHA:178464
HP:0033127	Abnormality of the musculoskeletal system	101060691	NUTM2B-AS1	OMIM:618637
HP:0033127	Abnormality of the musculoskeletal system	3508	IGHMBP2	OMIM:604320
HP:0033127	Abnormality of the musculoskeletal system	29925	GMPPB	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	2673	GFPT1	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	85365	ALG2	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	ORPHA:298
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	OMIM:607459
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	OMIM:258450
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	OMIM:603041
HP:0033127	Abnormality of the musculoskeletal system	1890	TYMP	ORPHA:298
HP:0033127	Abnormality of the musculoskeletal system	1890	TYMP	OMIM:603041
HP:0033127	Abnormality of the musculoskeletal system	3980	LIG3	ORPHA:298
HP:0033127	Abnormality of the musculoskeletal system	50484	RRM2B	ORPHA:298
HP:0033127	Abnormality of the musculoskeletal system	60482	SLC5A7	OMIM:158580
HP:0033127	Abnormality of the musculoskeletal system	2892	GRIA3	OMIM:300699
HP:0033127	Abnormality of the musculoskeletal system	2892	GRIA3	ORPHA:364028
HP:0033127	Abnormality of the musculoskeletal system	4358	MPV17	OMIM:618400
HP:0033127	Abnormality of the musculoskeletal system	4358	MPV17	OMIM:256810
HP:0033127	Abnormality of the musculoskeletal system	57449	PLEKHG5	OMIM:615376
HP:0033127	Abnormality of the musculoskeletal system	57449	PLEKHG5	OMIM:611067
HP:0033127	Abnormality of the musculoskeletal system	274	BIN1	OMIM:255200
HP:0033127	Abnormality of the musculoskeletal system	55157	DARS2	ORPHA:137898
HP:0033127	Abnormality of the musculoskeletal system	7920	ABHD16A	OMIM:619735
HP:0033127	Abnormality of the musculoskeletal system	29967	LRP12	OMIM:164310
HP:0033127	Abnormality of the musculoskeletal system	4620	MYH2	OMIM:605637
HP:0033127	Abnormality of the musculoskeletal system	51651	PTRH2	ORPHA:456312
HP:0033127	Abnormality of the musculoskeletal system	51651	PTRH2	OMIM:616263
HP:0033127	Abnormality of the musculoskeletal system	88	ACTN2	OMIM:618654
HP:0033127	Abnormality of the musculoskeletal system	88	ACTN2	OMIM:618655
HP:0033127	Abnormality of the musculoskeletal system	83636	C19orf12	OMIM:614298
HP:0033127	Abnormality of the musculoskeletal system	9517	SPTLC2	OMIM:613640
HP:0033127	Abnormality of the musculoskeletal system	9517	SPTLC2	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	65998	ZFTA	ORPHA:251636
HP:0033127	Abnormality of the musculoskeletal system	5970	RELA	ORPHA:251636
HP:0033127	Abnormality of the musculoskeletal system	23230	VPS13A	ORPHA:2388
HP:0033127	Abnormality of the musculoskeletal system	9927	MFN2	OMIM:601152
HP:0033127	Abnormality of the musculoskeletal system	9927	MFN2	OMIM:609260
HP:0033127	Abnormality of the musculoskeletal system	10558	SPTLC1	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	10558	SPTLC1	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	10558	SPTLC1	OMIM:162400
HP:0033127	Abnormality of the musculoskeletal system	25923	ATL3	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	51062	ATL1	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	5255	PHKA1	OMIM:300559
HP:0033127	Abnormality of the musculoskeletal system	60481	ELOVL5	OMIM:615957
HP:0033127	Abnormality of the musculoskeletal system	60481	ELOVL5	ORPHA:423296
HP:0033127	Abnormality of the musculoskeletal system	8898	MTMR2	OMIM:601382
HP:0033127	Abnormality of the musculoskeletal system	80208	SPG11	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	80208	SPG11	OMIM:602099
HP:0033127	Abnormality of the musculoskeletal system	10280	SIGMAR1	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	10280	SIGMAR1	OMIM:605726
HP:0033127	Abnormality of the musculoskeletal system	23095	KIF1B	OMIM:118210
HP:0033127	Abnormality of the musculoskeletal system	11261	CHP1	OMIM:618438
HP:0033127	Abnormality of the musculoskeletal system	5191	PEX7	OMIM:614879
HP:0033127	Abnormality of the musculoskeletal system	8106	PABPN1	OMIM:164300
HP:0033127	Abnormality of the musculoskeletal system	8565	YARS1	OMIM:608323
HP:0033127	Abnormality of the musculoskeletal system	19	ABCA1	ORPHA:31150
HP:0033127	Abnormality of the musculoskeletal system	3178	HNRNPA1	ORPHA:52430
HP:0033127	Abnormality of the musculoskeletal system	3181	HNRNPA2B1	ORPHA:52430
HP:0033127	Abnormality of the musculoskeletal system	5981	RFC1	ORPHA:504476
HP:0033127	Abnormality of the musculoskeletal system	3300	DNAJB2	OMIM:614881
HP:0033127	Abnormality of the musculoskeletal system	26353	HSPB8	OMIM:608673
HP:0033127	Abnormality of the musculoskeletal system	26353	HSPB8	OMIM:158590
HP:0033127	Abnormality of the musculoskeletal system	23479	ISCU	OMIM:255125
HP:0033127	Abnormality of the musculoskeletal system	3098	HK1	OMIM:605285
HP:0033127	Abnormality of the musculoskeletal system	79628	SH3TC2	OMIM:601596
HP:0033127	Abnormality of the musculoskeletal system	79628	SH3TC2	ORPHA:99949
HP:0033127	Abnormality of the musculoskeletal system	9217	VAPB	OMIM:182980
HP:0033127	Abnormality of the musculoskeletal system	9217	VAPB	OMIM:608627
HP:0033127	Abnormality of the musculoskeletal system	56652	TWNK	OMIM:607459
HP:0033127	Abnormality of the musculoskeletal system	57410	SCYL1	OMIM:616719
HP:0033127	Abnormality of the musculoskeletal system	23534	TNPO3	OMIM:608423
HP:0033127	Abnormality of the musculoskeletal system	23064	SETX	OMIM:606002
HP:0033127	Abnormality of the musculoskeletal system	23064	SETX	OMIM:602433
HP:0033127	Abnormality of the musculoskeletal system	23064	SETX	ORPHA:357043
HP:0033127	Abnormality of the musculoskeletal system	6310	ATXN1	OMIM:164400
HP:0033127	Abnormality of the musculoskeletal system	1785	DNM2	OMIM:606482
HP:0033127	Abnormality of the musculoskeletal system	8729	GBF1	OMIM:606483
HP:0033127	Abnormality of the musculoskeletal system	353116	RILPL1	OMIM:619790
HP:0033127	Abnormality of the musculoskeletal system	10020	GNE	OMIM:605820
HP:0033127	Abnormality of the musculoskeletal system	127833	SYT2	OMIM:616040
HP:0033127	Abnormality of the musculoskeletal system	1305	COL13A1	OMIM:616720
HP:0033127	Abnormality of the musculoskeletal system	3315	HSPB1	OMIM:606595
HP:0033127	Abnormality of the musculoskeletal system	55187	VPS13D	OMIM:607317
HP:0033127	Abnormality of the musculoskeletal system	90678	LRSAM1	OMIM:614436
HP:0033127	Abnormality of the musculoskeletal system	7084	TK2	ORPHA:254875
HP:0033127	Abnormality of the musculoskeletal system	5631	PRPS1	OMIM:311070
HP:0033127	Abnormality of the musculoskeletal system	3035	HARS1	OMIM:616625
HP:0033127	Abnormality of the musculoskeletal system	2992	GYG1	OMIM:616199
HP:0033127	Abnormality of the musculoskeletal system	64423	INF2	OMIM:614455
HP:0033127	Abnormality of the musculoskeletal system	89874	SLC25A21	OMIM:618811
HP:0033127	Abnormality of the musculoskeletal system	9531	BAG3	OMIM:612954
HP:0033127	Abnormality of the musculoskeletal system	28982	FLVCR1	OMIM:609033
HP:0033127	Abnormality of the musculoskeletal system	11284	PNKP	OMIM:605589
HP:0033127	Abnormality of the musculoskeletal system	65260	COA7	OMIM:618387
HP:0033127	Abnormality of the musculoskeletal system	10755	GIPC1	OMIM:618940
HP:0033127	Abnormality of the musculoskeletal system	1778	DYNC1H1	OMIM:614228
HP:0033127	Abnormality of the musculoskeletal system	1639	DCTN1	OMIM:607641
HP:0033127	Abnormality of the musculoskeletal system	4287	ATXN3	ORPHA:276244
HP:0033127	Abnormality of the musculoskeletal system	476	ATP1A1	OMIM:618036
HP:0033127	Abnormality of the musculoskeletal system	5375	PMP2	OMIM:618279
HP:0033127	Abnormality of the musculoskeletal system	1674	DES	OMIM:601419
HP:0033127	Abnormality of the musculoskeletal system	8292	COLQ	ORPHA:98915
HP:0033127	Abnormality of the musculoskeletal system	3913	LAMB2	ORPHA:98915
HP:0033127	Abnormality of the musculoskeletal system	1786	DNMT1	OMIM:614116
HP:0033127	Abnormality of the musculoskeletal system	54676	GTPBP2	OMIM:617988
HP:0033127	Abnormality of the musculoskeletal system	93587	TRMT10A	ORPHA:391408
HP:0033127	Abnormality of the musculoskeletal system	84919	PPP1R15B	ORPHA:391408
HP:0033127	Abnormality of the musculoskeletal system	6663	SOX10	OMIM:609136
HP:0033127	Abnormality of the musculoskeletal system	3710	ITPR3	OMIM:620111
HP:0033127	Abnormality of the musculoskeletal system	9516	LITAF	OMIM:601098
HP:0033127	Abnormality of the musculoskeletal system	26278	SACS	OMIM:270550
HP:0033127	Abnormality of the musculoskeletal system	26092	TOR1AIP1	OMIM:617072
HP:0033127	Abnormality of the musculoskeletal system	3920	LAMP2	OMIM:300257
HP:0033127	Abnormality of the musculoskeletal system	7515	XRCC1	OMIM:617633
HP:0033127	Abnormality of the musculoskeletal system	60386	SLC25A19	OMIM:613710
HP:0033127	Abnormality of the musculoskeletal system	283	ANG	OMIM:611895
HP:0033127	Abnormality of the musculoskeletal system	79784	MYH14	OMIM:614369
HP:0033127	Abnormality of the musculoskeletal system	8139	GAN	ORPHA:643
HP:0033127	Abnormality of the musculoskeletal system	8139	GAN	OMIM:256850
HP:0033127	Abnormality of the musculoskeletal system	4668	NAGA	OMIM:609242
HP:0033127	Abnormality of the musculoskeletal system	16	AARS1	OMIM:613287
HP:0033127	Abnormality of the musculoskeletal system	1371	CPOX	ORPHA:79273
HP:0033127	Abnormality of the musculoskeletal system	3145	HMBS	ORPHA:79276
HP:0033127	Abnormality of the musculoskeletal system	65055	REEP1	OMIM:620011
HP:0033127	Abnormality of the musculoskeletal system	50846	DHH	ORPHA:168563
HP:0033127	Abnormality of the musculoskeletal system	1161	ERCC8	ORPHA:90324
HP:0033127	Abnormality of the musculoskeletal system	2074	ERCC6	ORPHA:90324
HP:0033127	Abnormality of the musculoskeletal system	727676	SNORD118	ORPHA:542310
HP:0033127	Abnormality of the musculoskeletal system	6575	SLC20A2	OMIM:213600
HP:0033127	Abnormality of the musculoskeletal system	5155	PDGFB	OMIM:213600
HP:0033127	Abnormality of the musculoskeletal system	25782	RAB3GAP2	ORPHA:401830
HP:0033127	Abnormality of the musculoskeletal system	5621	PRNP	ORPHA:282166
HP:0033127	Abnormality of the musculoskeletal system	10717	AP4B1	ORPHA:280763
HP:0033127	Abnormality of the musculoskeletal system	11154	AP4S1	ORPHA:280763
HP:0033127	Abnormality of the musculoskeletal system	23431	AP4E1	ORPHA:280763
HP:0033127	Abnormality of the musculoskeletal system	87178	PNPT1	ORPHA:101111
HP:0033127	Abnormality of the musculoskeletal system	4099	MAG	OMIM:616680
HP:0033127	Abnormality of the musculoskeletal system	4137	MAPT	ORPHA:240094
HP:0033127	Abnormality of the musculoskeletal system	57704	GBA2	ORPHA:352641
HP:0033127	Abnormality of the musculoskeletal system	57704	GBA2	ORPHA:320391
HP:0033127	Abnormality of the musculoskeletal system	55775	TDP1	ORPHA:94124
HP:0033127	Abnormality of the musculoskeletal system	5190	PEX6	ORPHA:95433
HP:0033127	Abnormality of the musculoskeletal system	11160	ERLIN2	ORPHA:247604
HP:0033127	Abnormality of the musculoskeletal system	10939	AFG3L2	ORPHA:313772
HP:0033127	Abnormality of the musculoskeletal system	6843	VAMP1	ORPHA:251282
HP:0033127	Abnormality of the musculoskeletal system	84188	FAR1	ORPHA:447753
HP:0033127	Abnormality of the musculoskeletal system	11128	POLR3A	ORPHA:447896
HP:0033127	Abnormality of the musculoskeletal system	724066	ATXN8	ORPHA:98760
HP:0033127	Abnormality of the musculoskeletal system	6315	ATXN8OS	ORPHA:98760
HP:0033127	Abnormality of the musculoskeletal system	51218	GLRX5	ORPHA:401866
HP:0033127	Abnormality of the musculoskeletal system	6687	SPG7	ORPHA:35689
HP:0033127	Abnormality of the musculoskeletal system	2705	GJB1	ORPHA:1175
HP:0033127	Abnormality of the musculoskeletal system	492	ATP2B3	ORPHA:314978
HP:0033127	Abnormality of the musculoskeletal system	410	ARSA	ORPHA:309271
HP:0033127	Abnormality of the musculoskeletal system	5660	PSAP	ORPHA:309271
HP:0033127	Abnormality of the musculoskeletal system	23400	ATP13A2	ORPHA:513436
HP:0033127	Abnormality of the musculoskeletal system	5354	PLP1	ORPHA:280234
HP:0033127	Abnormality of the musculoskeletal system	5354	PLP1	OMIM:312080
HP:0033127	Abnormality of the musculoskeletal system	54	ACP5	OMIM:607944
HP:0033127	Abnormality of the musculoskeletal system	2760	GM2A	ORPHA:309246
HP:0033127	Abnormality of the musculoskeletal system	79152	FA2H	ORPHA:329308
HP:0033127	Abnormality of the musculoskeletal system	6711	SPTBN1	OMIM:619475
HP:0033127	Abnormality of the musculoskeletal system	133686	NADK2	ORPHA:431361
HP:0033127	Abnormality of the musculoskeletal system	383	ARG1	OMIM:207800
HP:0033127	Abnormality of the musculoskeletal system	383	ARG1	ORPHA:90
HP:0033127	Abnormality of the musculoskeletal system	487	ATP2A1	OMIM:601003
HP:0033127	Abnormality of the musculoskeletal system	5213	PFKM	ORPHA:371
HP:0033127	Abnormality of the musculoskeletal system	7345	UCHL1	OMIM:615491
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:170400
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:170500
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:608390
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:99735
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:99736
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:684
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:682
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:681
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:613345
HP:0033127	Abnormality of the musculoskeletal system	779	CACNA1S	OMIM:170400
HP:0033127	Abnormality of the musculoskeletal system	779	CACNA1S	ORPHA:79102
HP:0033127	Abnormality of the musculoskeletal system	779	CACNA1S	ORPHA:681
HP:0033127	Abnormality of the musculoskeletal system	203547	VMA21	OMIM:310440
HP:0033127	Abnormality of the musculoskeletal system	7555	CNBP	ORPHA:606
HP:0033127	Abnormality of the musculoskeletal system	7555	CNBP	OMIM:602668
HP:0033127	Abnormality of the musculoskeletal system	1180	CLCN1	OMIM:255700
HP:0033127	Abnormality of the musculoskeletal system	1180	CLCN1	ORPHA:614
HP:0033127	Abnormality of the musculoskeletal system	1180	CLCN1	OMIM:160800
HP:0033127	Abnormality of the musculoskeletal system	100134444	KCNJ18	ORPHA:79102
HP:0033127	Abnormality of the musculoskeletal system	2556	GABRA3	ORPHA:79102
HP:0033127	Abnormality of the musculoskeletal system	2273	FHL1	ORPHA:98863
HP:0033127	Abnormality of the musculoskeletal system	2010	EMD	ORPHA:98863
HP:0033127	Abnormality of the musculoskeletal system	773	CACNA1A	OMIM:108500
HP:0033127	Abnormality of the musculoskeletal system	10008	KCNE3	ORPHA:681
HP:0033127	Abnormality of the musculoskeletal system	1760	DMPK	ORPHA:589821
HP:0033127	Abnormality of the musculoskeletal system	1760	DMPK	OMIM:160900
HP:0033127	Abnormality of the musculoskeletal system	4000	LMNA	ORPHA:98855
HP:0033127	Abnormality of the musculoskeletal system	4000	LMNA	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	3736	KCNA1	ORPHA:37612
HP:0033127	Abnormality of the musculoskeletal system	79188	TMEM43	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	23224	SYNE2	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	80185	TTI2	ORPHA:391307
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	OMIM:205100
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	OMIM:606353
HP:0033127	Abnormality of the musculoskeletal system	80222	TARS2	OMIM:615918
HP:0033127	Abnormality of the musculoskeletal system	23310	NCAPD3	OMIM:617984
HP:0033127	Abnormality of the musculoskeletal system	1644	DDC	OMIM:608643
HP:0033127	Abnormality of the musculoskeletal system	10463	SLC30A9	OMIM:617595
HP:0033127	Abnormality of the musculoskeletal system	5095	PCCA	OMIM:606054
HP:0033127	Abnormality of the musculoskeletal system	5096	PCCB	OMIM:606054
HP:0033127	Abnormality of the musculoskeletal system	80347	COASY	OMIM:615643
HP:0033127	Abnormality of the musculoskeletal system	535	ATP6V0A1	OMIM:619971
HP:0033127	Abnormality of the musculoskeletal system	7283	TUBG1	OMIM:615412
HP:0033127	Abnormality of the musculoskeletal system	3796	KIF2A	OMIM:615411
HP:0033127	Abnormality of the musculoskeletal system	170825	GSX2	OMIM:618646
HP:0033127	Abnormality of the musculoskeletal system	5700	PSMC1	OMIM:620071
HP:0033127	Abnormality of the musculoskeletal system	55739	NAXD	OMIM:618321
HP:0033127	Abnormality of the musculoskeletal system	440	ASNS	OMIM:615574
HP:0033127	Abnormality of the musculoskeletal system	777	CACNA1E	OMIM:618285
HP:0033127	Abnormality of the musculoskeletal system	1284	COL4A2	OMIM:614483
HP:0033127	Abnormality of the musculoskeletal system	2806	GOT2	OMIM:618721
HP:0033127	Abnormality of the musculoskeletal system	51294	PCDH12	OMIM:251280
HP:0033127	Abnormality of the musculoskeletal system	2055	CLN8	ORPHA:1947
HP:0033127	Abnormality of the musculoskeletal system	55770	EXOC2	OMIM:619306
HP:0033127	Abnormality of the musculoskeletal system	10695	CNPY3	OMIM:617929
HP:0033127	Abnormality of the musculoskeletal system	8671	SLC4A4	OMIM:604278
HP:0033127	Abnormality of the musculoskeletal system	3394	IRF8	OMIM:226990
HP:0033127	Abnormality of the musculoskeletal system	6773	STAT2	OMIM:618886
HP:0033127	Abnormality of the musculoskeletal system	9213	XPR1	ORPHA:1980
HP:0033127	Abnormality of the musculoskeletal system	57462	MYORG	ORPHA:1980
HP:0033127	Abnormality of the musculoskeletal system	3117	HLA-DQA1	OMIM:212750
HP:0033127	Abnormality of the musculoskeletal system	7249	TSC2	OMIM:613254
HP:0033127	Abnormality of the musculoskeletal system	3458	IFNG	OMIM:613254
HP:0033127	Abnormality of the musculoskeletal system	2776	GNAQ	ORPHA:624
HP:0033127	Abnormality of the musculoskeletal system	2776	GNAQ	ORPHA:3205
HP:0033127	Abnormality of the musculoskeletal system	57169	ZNFX1	OMIM:619644
HP:0033127	Abnormality of the musculoskeletal system	7248	TSC1	OMIM:191100
HP:0033127	Abnormality of the musculoskeletal system	326	AIRE	ORPHA:3453
HP:0033127	Abnormality of the musculoskeletal system	56160	NSMCE3	OMIM:617241
HP:0033127	Abnormality of the musculoskeletal system	8575	PRKRA	OMIM:612067
HP:0033127	Abnormality of the musculoskeletal system	219972	MPEG1	OMIM:619223
HP:0033127	Abnormality of the musculoskeletal system	54832	VPS13C	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	11315	PARK7	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	120892	LRRK2	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	9829	DNAJC6	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	6622	SNCA	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	5420	PODXL	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	65018	PINK1	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	5071	PRKN	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	23005	MAPKBP1	OMIM:617271
HP:0033127	Abnormality of the musculoskeletal system	55975	KLHL7	OMIM:617055
HP:0033127	Abnormality of the musculoskeletal system	11235	PDCD10	ORPHA:221061
HP:0033127	Abnormality of the musculoskeletal system	83605	CCM2	ORPHA:221061
HP:0033127	Abnormality of the musculoskeletal system	80152	CENPT	OMIM:618702
HP:0033127	Abnormality of the musculoskeletal system	1804	DPP6	OMIM:616311
HP:0033127	Abnormality of the musculoskeletal system	23769	FLRT1	ORPHA:320406
HP:0033127	Abnormality of the musculoskeletal system	118987	PDZD8	OMIM:620021
HP:0033127	Abnormality of the musculoskeletal system	861	RUNX1	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	3026	HABP2	ORPHA:319487
HP:0033127	Abnormality of the musculoskeletal system	1991	ELANE	ORPHA:2686
HP:0033127	Abnormality of the musculoskeletal system	7010	TEK	ORPHA:1059
HP:0033127	Abnormality of the musculoskeletal system	89780	WNT3A	ORPHA:85193
HP:0033127	Abnormality of the musculoskeletal system	5345	SERPINF2	ORPHA:79
HP:0033127	Abnormality of the musculoskeletal system	57592	ZNF687	OMIM:616833
HP:0033127	Abnormality of the musculoskeletal system	3313	HSPA9	OMIM:616854
HP:0033127	Abnormality of the musculoskeletal system	9368	NHERF1	OMIM:612287
HP:0033127	Abnormality of the musculoskeletal system	54790	TET2	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	6427	SRSF2	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	1962	EHHADH	ORPHA:3337
HP:0033127	Abnormality of the musculoskeletal system	2628	GATM	ORPHA:3337
HP:0033127	Abnormality of the musculoskeletal system	55151	TMEM38B	OMIM:615066
HP:0033127	Abnormality of the musculoskeletal system	85446	ZFHX2	OMIM:147430
HP:0033127	Abnormality of the musculoskeletal system	23761	PISD	OMIM:618889
HP:0033127	Abnormality of the musculoskeletal system	4193	MDM2	ORPHA:524
HP:0033127	Abnormality of the musculoskeletal system	166929	SGMS2	OMIM:126550
HP:0033127	Abnormality of the musculoskeletal system	29899	GPSM2	OMIM:604213
HP:0033127	Abnormality of the musculoskeletal system	570	BAAT	OMIM:619232
HP:0033127	Abnormality of the musculoskeletal system	6718	AKR1D1	ORPHA:79303
HP:0033127	Abnormality of the musculoskeletal system	9414	TJP2	OMIM:607748
HP:0033127	Abnormality of the musculoskeletal system	50617	ATP6V0A4	OMIM:602722
HP:0033127	Abnormality of the musculoskeletal system	2693	GHSR	OMIM:615925
HP:0033127	Abnormality of the musculoskeletal system	2693	GHSR	ORPHA:314811
HP:0033127	Abnormality of the musculoskeletal system	3483	IGFALS	ORPHA:140941
HP:0033127	Abnormality of the musculoskeletal system	55366	LGR4	OMIM:619613
HP:0033127	Abnormality of the musculoskeletal system	402381	SOHLH1	OMIM:617690
HP:0033127	Abnormality of the musculoskeletal system	7201	TRHR	ORPHA:99832
HP:0033127	Abnormality of the musculoskeletal system	7201	TRHR	OMIM:618573
HP:0033127	Abnormality of the musculoskeletal system	6307	MSMO1	OMIM:616834
HP:0033127	Abnormality of the musculoskeletal system	254394	MCM9	OMIM:616185
HP:0033127	Abnormality of the musculoskeletal system	2692	GHRHR	OMIM:618157
HP:0033127	Abnormality of the musculoskeletal system	55599	RNPC3	OMIM:618160
HP:0033127	Abnormality of the musculoskeletal system	3149	HMGB3	OMIM:300915
HP:0033127	Abnormality of the musculoskeletal system	3689	ITGB2	OMIM:116920
HP:0033127	Abnormality of the musculoskeletal system	4688	NCF2	OMIM:233710
HP:0033127	Abnormality of the musculoskeletal system	5966	REL	OMIM:619652
HP:0033127	Abnormality of the musculoskeletal system	1535	CYBA	OMIM:233690
HP:0033127	Abnormality of the musculoskeletal system	1536	CYBB	OMIM:306400
HP:0033127	Abnormality of the musculoskeletal system	2158	F9	OMIM:306900
HP:0033127	Abnormality of the musculoskeletal system	1020	CDK5	OMIM:616342
HP:0033127	Abnormality of the musculoskeletal system	4157	MC1R	ORPHA:626
HP:0033127	Abnormality of the musculoskeletal system	284086	NEK8	OMIM:615415
HP:0033127	Abnormality of the musculoskeletal system	889	KRIT1	OMIM:116860
HP:0033127	Abnormality of the musculoskeletal system	4683	NBN	ORPHA:647
HP:0033127	Abnormality of the musculoskeletal system	2303	FOXC2	OMIM:153400
HP:0033127	Abnormality of the musculoskeletal system	7454	WAS	OMIM:313900
HP:0033127	Abnormality of the musculoskeletal system	4626	MYH8	ORPHA:3377
HP:0033127	Abnormality of the musculoskeletal system	1576	CYP3A4	OMIM:619073
HP:0033127	Abnormality of the musculoskeletal system	286053	NSMCE2	OMIM:617253
HP:0033127	Abnormality of the musculoskeletal system	6424	SFRP4	OMIM:265900
HP:0033127	Abnormality of the musculoskeletal system	4318	MMP9	OMIM:613073
HP:0033127	Abnormality of the musculoskeletal system	1294	COL7A1	ORPHA:89843
HP:0033127	Abnormality of the musculoskeletal system	1758	DMP1	ORPHA:289176
HP:0033127	Abnormality of the musculoskeletal system	567	B2M	OMIM:241600
HP:0033127	Abnormality of the musculoskeletal system	5479	PPIB	OMIM:259440
HP:0033127	Abnormality of the musculoskeletal system	7471	WNT1	OMIM:615220
HP:0033127	Abnormality of the musculoskeletal system	9663	LPIN2	ORPHA:77297
HP:0033127	Abnormality of the musculoskeletal system	90993	CREB3L1	OMIM:616229
HP:0033127	Abnormality of the musculoskeletal system	55191	NADSYN1	OMIM:618845
HP:0033127	Abnormality of the musculoskeletal system	51025	PAM16	OMIM:613320
HP:0033127	Abnormality of the musculoskeletal system	3560	IL2RB	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	79722	ANKRD55	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	26191	PTPN22	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	919	CD247	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	3559	IL2RA	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	5771	PTPN2	ORPHA:85410
HP:0033127	Abnormality of the musculoskeletal system	1184	CLCN5	OMIM:300554
HP:0033127	Abnormality of the musculoskeletal system	1184	CLCN5	OMIM:300009
HP:0033127	Abnormality of the musculoskeletal system	760	CA2	OMIM:259730
HP:0033127	Abnormality of the musculoskeletal system	4233	MET	OMIM:607278
HP:0033127	Abnormality of the musculoskeletal system	56172	ANKH	OMIM:118600
HP:0033127	Abnormality of the musculoskeletal system	2157	F8	ORPHA:169805
HP:0033127	Abnormality of the musculoskeletal system	1777	DNASE2	OMIM:619858
HP:0033127	Abnormality of the musculoskeletal system	654	BMP6	ORPHA:465508
HP:0033127	Abnormality of the musculoskeletal system	3077	HFE	ORPHA:465508
HP:0033127	Abnormality of the musculoskeletal system	3077	HFE	OMIM:235200
HP:0033127	Abnormality of the musculoskeletal system	57817	HAMP	ORPHA:79230
HP:0033127	Abnormality of the musculoskeletal system	148738	HJV	ORPHA:79230
HP:0033127	Abnormality of the musculoskeletal system	4803	NGF	OMIM:608654
HP:0033127	Abnormality of the musculoskeletal system	6137	RPL13	OMIM:618728
HP:0033127	Abnormality of the musculoskeletal system	7473	WNT3	OMIM:273395
HP:0033127	Abnormality of the musculoskeletal system	7473	WNT3	ORPHA:3301
HP:0033127	Abnormality of the musculoskeletal system	340419	RSPO2	ORPHA:3301
HP:0033127	Abnormality of the musculoskeletal system	10804	GJB6	ORPHA:477
HP:0033127	Abnormality of the musculoskeletal system	2706	GJB2	ORPHA:477
HP:0033127	Abnormality of the musculoskeletal system	10082	GPC6	OMIM:258315
HP:0033127	Abnormality of the musculoskeletal system	2554	GABRA1	ORPHA:33069
HP:0033127	Abnormality of the musculoskeletal system	57526	PCDH19	ORPHA:33069
HP:0033127	Abnormality of the musculoskeletal system	145258	GSC	OMIM:602471
HP:0033127	Abnormality of the musculoskeletal system	65992	DDRGK1	ORPHA:93352
HP:0033127	Abnormality of the musculoskeletal system	4522	MTHFD1	OMIM:617780
HP:0033127	Abnormality of the musculoskeletal system	4615	MYD88	OMIM:612260
HP:0033127	Abnormality of the musculoskeletal system	3426	CFI	OMIM:610984
HP:0033127	Abnormality of the musculoskeletal system	2222	FDFT1	OMIM:618156
HP:0033127	Abnormality of the musculoskeletal system	51574	LARP7	ORPHA:319671
HP:0033127	Abnormality of the musculoskeletal system	341208	HEPHL1	OMIM:261990
HP:0033127	Abnormality of the musculoskeletal system	6916	TBXAS1	ORPHA:1802
HP:0033127	Abnormality of the musculoskeletal system	4176	MCM7	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	259266	ASPM	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	1911	PHC1	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	6884	TAF13	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	1308	COL17A1	ORPHA:251393
HP:0033127	Abnormality of the musculoskeletal system	83879	CDCA7	OMIM:616910
HP:0033127	Abnormality of the musculoskeletal system	9015	TAF1A	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7112	TMPO	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9464	HAND2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	10486	CAP2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7168	TPM1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7414	VCL	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	70	ACTC1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	27063	ANKRD1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	8048	CSRP3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7139	TNNT2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	1829	DSG2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	3910	LAMA4	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	10587	TXNRD2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	5350	PLN	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	91624	NEXN	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	4624	MYH6	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9529	BAG5	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	4607	MYBPC3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	4607	MYBPC3	OMIM:115197
HP:0033127	Abnormality of the musculoskeletal system	282996	RBM20	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7137	TNNI3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	2274	FHL2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	57798	GATAD1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7134	TNNC1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7498	XDH	OMIM:278300
HP:0033127	Abnormality of the musculoskeletal system	4539	MT-ND4L	ORPHA:104
HP:0033127	Abnormality of the musculoskeletal system	4539	MT-ND4L	OMIM:535000
HP:0033127	Abnormality of the musculoskeletal system	2729	GCLC	ORPHA:33574
HP:0033127	Abnormality of the musculoskeletal system	2729	GCLC	OMIM:230450
HP:0033127	Abnormality of the musculoskeletal system	51128	SAR1B	ORPHA:71
HP:0033127	Abnormality of the musculoskeletal system	178	AGL	ORPHA:366
HP:0033127	Abnormality of the musculoskeletal system	178	AGL	OMIM:232400
HP:0033127	Abnormality of the musculoskeletal system	4549	MT-RNR1	ORPHA:551
HP:0033127	Abnormality of the musculoskeletal system	4564	MT-TH	ORPHA:551
HP:0033127	Abnormality of the musculoskeletal system	4564	MT-TH	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	51422	PRKAG2	OMIM:261740
HP:0033127	Abnormality of the musculoskeletal system	26007	TKFC	ORPHA:1369
HP:0033127	Abnormality of the musculoskeletal system	2710	GK	OMIM:307030
HP:0033127	Abnormality of the musculoskeletal system	708	C1QBP	OMIM:617713
HP:0033127	Abnormality of the musculoskeletal system	1063	CENPF	OMIM:243605
HP:0033127	Abnormality of the musculoskeletal system	7504	XK	OMIM:300842
HP:0033127	Abnormality of the musculoskeletal system	2488	FSHB	OMIM:229070
HP:0033127	Abnormality of the musculoskeletal system	27089	UQCRQ	OMIM:615159
HP:0033127	Abnormality of the musculoskeletal system	125170	MIEF2	OMIM:619024
HP:0033127	Abnormality of the musculoskeletal system	81034	SLC25A32	OMIM:616839
HP:0033127	Abnormality of the musculoskeletal system	51693	TRAPPC2L	OMIM:618331
HP:0033127	Abnormality of the musculoskeletal system	22947	DUX4L1	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	100288687	DUX4	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	23396	PIP5K1C	OMIM:611369
HP:0033127	Abnormality of the musculoskeletal system	940	CD28	ORPHA:3162
HP:0033127	Abnormality of the musculoskeletal system	7133	TNFRSF1B	ORPHA:3162
HP:0033127	Abnormality of the musculoskeletal system	6515	SLC2A3	ORPHA:399
HP:0033127	Abnormality of the musculoskeletal system	10058	ABCB6	OMIM:609153
HP:0033127	Abnormality of the musculoskeletal system	10661	KLF1	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	3047	HBG1	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	3048	HBG2	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	10126	DNAL4	ORPHA:238722
HP:0033127	Abnormality of the musculoskeletal system	9423	NTN1	ORPHA:238722
HP:0033127	Abnormality of the musculoskeletal system	811	CALR	ORPHA:824
HP:0033127	Abnormality of the musculoskeletal system	3717	JAK2	ORPHA:824
HP:0033127	Abnormality of the musculoskeletal system	23317	DNAJC13	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	1981	EIF4G1	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	55737	VPS35	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	26058	GIGYF2	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	146206	CARMIL2	OMIM:618131
HP:0033127	Abnormality of the musculoskeletal system	8659	ALDH4A1	ORPHA:79101
HP:0033127	Abnormality of the musculoskeletal system	5589	PRKCSH	OMIM:174050
HP:0033127	Abnormality of the musculoskeletal system	5589	PRKCSH	ORPHA:2924
HP:0033127	Abnormality of the musculoskeletal system	56606	SLC2A9	ORPHA:94088
HP:0033127	Abnormality of the musculoskeletal system	116085	SLC22A12	ORPHA:94088
HP:0033127	Abnormality of the musculoskeletal system	3075	CFH	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	4179	CD46	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	101101692	HELLPAR	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	11231	SEC63	ORPHA:2924
HP:0033127	Abnormality of the musculoskeletal system	285282	RABL3	ORPHA:1333
HP:0033127	Abnormality of the musculoskeletal system	23022	PALLD	ORPHA:1333
HP:0033127	Abnormality of the musculoskeletal system	9096	TBX18	OMIM:143400
HP:0033127	Abnormality of the musculoskeletal system	4665	NAB2	ORPHA:2126
HP:0033127	Abnormality of the musculoskeletal system	6778	STAT6	ORPHA:2126
HP:0033127	Abnormality of the musculoskeletal system	1200	TPP1	ORPHA:284324
HP:0033127	Abnormality of the musculoskeletal system	84909	AOPEP	OMIM:619565
HP:0033127	Abnormality of the musculoskeletal system	28958	COA3	OMIM:619058
HP:0033127	Abnormality of the musculoskeletal system	65080	MRPL44	OMIM:615395
HP:0033127	Abnormality of the musculoskeletal system	4927	NUP88	ORPHA:994
HP:0033127	Abnormality of the musculoskeletal system	7846	TUBA1A	ORPHA:994
HP:0033127	Abnormality of the musculoskeletal system	4967	OGDH	OMIM:203740
HP:0033127	Abnormality of the musculoskeletal system	92667	MGME1	ORPHA:352447
HP:0033127	Abnormality of the musculoskeletal system	92667	MGME1	OMIM:615084
HP:0033127	Abnormality of the musculoskeletal system	80055	PGAP1	ORPHA:401820
HP:0033127	Abnormality of the musculoskeletal system	81790	RNF170	OMIM:619686
HP:0033127	Abnormality of the musculoskeletal system	2859	GPR35	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	10507	SEMA4D	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	4485	MST1	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	131118	DNAJC19	ORPHA:66634
HP:0033127	Abnormality of the musculoskeletal system	36	ACADSB	OMIM:610006
HP:0033127	Abnormality of the musculoskeletal system	205327	C2orf69	OMIM:619423
HP:0033127	Abnormality of the musculoskeletal system	91452	ACBD5	OMIM:618863
HP:0033127	Abnormality of the musculoskeletal system	80308	FLAD1	OMIM:255100
HP:0033127	Abnormality of the musculoskeletal system	56997	COQ8A	ORPHA:139485
HP:0033127	Abnormality of the musculoskeletal system	56997	COQ8A	OMIM:612016
HP:0033127	Abnormality of the musculoskeletal system	9581	PREPL	OMIM:616224
HP:0033127	Abnormality of the musculoskeletal system	9570	GOSR2	OMIM:620166
HP:0033127	Abnormality of the musculoskeletal system	5442	POLRMT	OMIM:619743
HP:0033127	Abnormality of the musculoskeletal system	844	CASQ1	OMIM:616231
HP:0033127	Abnormality of the musculoskeletal system	4632	MYL1	OMIM:618414
HP:0033127	Abnormality of the musculoskeletal system	79731	NARS2	OMIM:616239
HP:0033127	Abnormality of the musculoskeletal system	284439	SLC25A42	OMIM:618416
HP:0033127	Abnormality of the musculoskeletal system	113278	SLC52A3	OMIM:211530
HP:0033127	Abnormality of the musculoskeletal system	8622	PDE8B	ORPHA:189439
HP:0033127	Abnormality of the musculoskeletal system	50940	PDE11A	ORPHA:189439
HP:0033127	Abnormality of the musculoskeletal system	79798	ARMC5	ORPHA:189427
HP:0033127	Abnormality of the musculoskeletal system	11149	BVES	OMIM:616812
HP:0033127	Abnormality of the musculoskeletal system	34	ACADM	ORPHA:42
HP:0033127	Abnormality of the musculoskeletal system	4942	OAT	OMIM:258870
HP:0033127	Abnormality of the musculoskeletal system	3991	LIPE	OMIM:615980
HP:0033127	Abnormality of the musculoskeletal system	284119	CAVIN1	OMIM:613327
HP:0033127	Abnormality of the musculoskeletal system	10616	RBCK1	OMIM:615895
HP:0033127	Abnormality of the musculoskeletal system	84892	POMGNT2	OMIM:618135
HP:0033127	Abnormality of the musculoskeletal system	4507	MTAP	OMIM:112250
HP:0033127	Abnormality of the musculoskeletal system	56244	BTNL2	ORPHA:797
HP:0033127	Abnormality of the musculoskeletal system	84265	POLR3GL	OMIM:619234
HP:0033127	Abnormality of the musculoskeletal system	10345	TRDN	OMIM:615441
HP:0033127	Abnormality of the musculoskeletal system	6584	SLC22A5	OMIM:212140
HP:0033127	Abnormality of the musculoskeletal system	5224	PGAM2	OMIM:261670
HP:0033127	Abnormality of the musculoskeletal system	5836	PYGL	ORPHA:369
HP:0033127	Abnormality of the musculoskeletal system	3703	STT3A	OMIM:619714
HP:0033127	Abnormality of the musculoskeletal system	2660	MSTN	OMIM:614160
HP:0033127	Abnormality of the musculoskeletal system	2353	FOS	ORPHA:528
HP:0033127	Abnormality of the musculoskeletal system	372	ARCN1	OMIM:617164
HP:0033127	Abnormality of the musculoskeletal system	246243	RNASEH1	ORPHA:329336
HP:0033127	Abnormality of the musculoskeletal system	2483	FRG1	OMIM:158900
HP:0033127	Abnormality of the musculoskeletal system	6445	SGCG	ORPHA:353
HP:0033127	Abnormality of the musculoskeletal system	291	SLC25A4	ORPHA:254892
HP:0033127	Abnormality of the musculoskeletal system	11232	POLG2	ORPHA:254892
HP:0033127	Abnormality of the musculoskeletal system	1756	DMD	ORPHA:206546
HP:0033127	Abnormality of the musculoskeletal system	4512	MT-CO1	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4513	MT-CO2	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4514	MT-CO3	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4519	MT-CYB	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4511	MT-TC	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4575	MT-TS2	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4558	MT-TF	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4541	MT-ND6	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4541	MT-ND6	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4540	MT-ND5	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4540	MT-ND5	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4566	MT-TK	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4566	MT-TK	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4572	MT-TQ	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4577	MT-TV	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4577	MT-TV	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4578	MT-TW	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4578	MT-TW	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4538	MT-ND4	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	112812	FDX2	OMIM:251900
HP:0033127	Abnormality of the musculoskeletal system	50640	PNPLA8	OMIM:251950
HP:0033127	Abnormality of the musculoskeletal system	55750	AGK	OMIM:212350
HP:0033127	Abnormality of the musculoskeletal system	4976	OPA1	ORPHA:1215
HP:0033127	Abnormality of the musculoskeletal system	23347	SMCHD1	OMIM:158901
HP:0033127	Abnormality of the musculoskeletal system	1763	DNA2	OMIM:615156
HP:0033127	Abnormality of the musculoskeletal system	5257	PHKB	ORPHA:79240
HP:0033127	Abnormality of the musculoskeletal system	10049	DNAJB6	OMIM:603511
HP:0033127	Abnormality of the musculoskeletal system	54344	DPM3	ORPHA:263494
HP:0033127	Abnormality of the musculoskeletal system	6443	SGCB	ORPHA:119
HP:0033127	Abnormality of the musculoskeletal system	9987	HNRNPDL	OMIM:609115
HP:0033127	Abnormality of the musculoskeletal system	270	AMPD1	OMIM:615511
HP:0033127	Abnormality of the musculoskeletal system	29958	DMGDH	ORPHA:243343
HP:0033127	Abnormality of the musculoskeletal system	29958	DMGDH	OMIM:605850
HP:0033127	Abnormality of the musculoskeletal system	866	SERPINA6	OMIM:611489
HP:0033127	Abnormality of the musculoskeletal system	6786	STIM1	OMIM:185070
HP:0033127	Abnormality of the musculoskeletal system	3762	KCNJ5	ORPHA:37553
HP:0033127	Abnormality of the musculoskeletal system	226	ALDOA	ORPHA:57
HP:0033127	Abnormality of the musculoskeletal system	6901	TAFAZZIN	OMIM:302060
HP:0033127	Abnormality of the musculoskeletal system	54345	SOX18	OMIM:137940
HP:0033127	Abnormality of the musculoskeletal system	2271	FH	OMIM:606812
HP:0033127	Abnormality of the musculoskeletal system	7040	TGFB1	OMIM:131300
HP:0033127	Abnormality of the musculoskeletal system	3643	INSR	ORPHA:508
HP:0033127	Abnormality of the musculoskeletal system	3643	INSR	ORPHA:769
HP:0033127	Abnormality of the musculoskeletal system	256297	PTF1A	OMIM:609069
HP:0033127	Abnormality of the musculoskeletal system	5346	PLIN1	ORPHA:280356
HP:0033127	Abnormality of the musculoskeletal system	5468	PPARG	OMIM:604367
HP:0033127	Abnormality of the musculoskeletal system	6514	SLC2A2	OMIM:227810
HP:0033127	Abnormality of the musculoskeletal system	7156	TOP3A	OMIM:618097
HP:0033127	Abnormality of the musculoskeletal system	529	ATP6V1E1	OMIM:617402
HP:0033127	Abnormality of the musculoskeletal system	55131	RBM28	OMIM:612079
HP:0033127	Abnormality of the musculoskeletal system	2591	GALNT3	OMIM:211900
HP:0033127	Abnormality of the musculoskeletal system	54809	SAMD9	OMIM:610455
HP:0033127	Abnormality of the musculoskeletal system	846	CASR	OMIM:239200
HP:0033127	Abnormality of the musculoskeletal system	189	AGXT	ORPHA:93598
HP:0033127	Abnormality of the musculoskeletal system	5332	PLCB4	OMIM:614669
HP:0033127	Abnormality of the musculoskeletal system	3166	HMX1	OMIM:612109
HP:0033127	Abnormality of the musculoskeletal system	64175	P3H1	OMIM:610915
HP:0033127	Abnormality of the musculoskeletal system	6261	RYR1	OMIM:255320
HP:0033127	Abnormality of the musculoskeletal system	6261	RYR1	ORPHA:424107
HP:0033127	Abnormality of the musculoskeletal system	6261	RYR1	OMIM:619542
HP:0033127	Abnormality of the musculoskeletal system	57190	SELENON	OMIM:602771
HP:0033127	Abnormality of the musculoskeletal system	8087	FXR1	OMIM:618823
HP:0033127	Abnormality of the musculoskeletal system	1073	CFL2	OMIM:610687
HP:0033127	Abnormality of the musculoskeletal system	5663	PSEN1	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	5664	PSEN2	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	10452	TOMM40	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	351	APP	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	54209	TREM2	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	10347	ABCA7	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	6653	SORL1	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	3417	IDH1	ORPHA:99646
HP:0033127	Abnormality of the musculoskeletal system	1716	DGUOK	ORPHA:329314
HP:0033127	Abnormality of the musculoskeletal system	79147	FKRP	ORPHA:370980
HP:0033127	Abnormality of the musculoskeletal system	2218	FKTN	ORPHA:370980
HP:0033127	Abnormality of the musculoskeletal system	10585	POMT1	ORPHA:370980
HP:0033127	Abnormality of the musculoskeletal system	6442	SGCA	OMIM:608099
HP:0033127	Abnormality of the musculoskeletal system	4709	NDUFB3	OMIM:618246
HP:0033127	Abnormality of the musculoskeletal system	339855	KY	OMIM:617114
HP:0033127	Abnormality of the musculoskeletal system	84665	MYPN	OMIM:617336
HP:0033127	Abnormality of the musculoskeletal system	84665	MYPN	ORPHA:171439
HP:0033127	Abnormality of the musculoskeletal system	79912	PYROXD1	OMIM:617258
HP:0033127	Abnormality of the musculoskeletal system	84700	MYO18B	OMIM:616549
HP:0033127	Abnormality of the musculoskeletal system	390594	KBTBD13	ORPHA:171439
HP:0033127	Abnormality of the musculoskeletal system	390594	KBTBD13	OMIM:609273
HP:0033127	Abnormality of the musculoskeletal system	7138	TNNT1	OMIM:605355
HP:0033127	Abnormality of the musculoskeletal system	2099	ESR1	ORPHA:785
HP:0033127	Abnormality of the musculoskeletal system	9453	GGPS1	OMIM:619518
HP:0033127	Abnormality of the musculoskeletal system	160418	TMTC3	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	55780	ERMARD	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	26175	LYSET	OMIM:619345
HP:0033127	Abnormality of the musculoskeletal system	11253	MAN1B1	ORPHA:397941
HP:0033127	Abnormality of the musculoskeletal system	11253	MAN1B1	OMIM:614202
HP:0033127	Abnormality of the musculoskeletal system	340533	NEXMIF	OMIM:300912
HP:0033127	Abnormality of the musculoskeletal system	1139	CHRNA7	ORPHA:199318
HP:0033127	Abnormality of the musculoskeletal system	1139	CHRNA7	OMIM:612001
HP:0033127	Abnormality of the musculoskeletal system	2132	EXT2	OMIM:616682
HP:0033127	Abnormality of the musculoskeletal system	23135	KDM6B	OMIM:618505
HP:0033127	Abnormality of the musculoskeletal system	6659	SOX4	OMIM:618506
HP:0033127	Abnormality of the musculoskeletal system	1947	EFNB1	ORPHA:1520
HP:0033127	Abnormality of the musculoskeletal system	1947	EFNB1	OMIM:304110
HP:0033127	Abnormality of the musculoskeletal system	4010	LMX1B	ORPHA:2614
HP:0033127	Abnormality of the musculoskeletal system	4010	LMX1B	OMIM:161200
HP:0033127	Abnormality of the musculoskeletal system	10054	UBA2	OMIM:619959
HP:0033127	Abnormality of the musculoskeletal system	51126	NAA20	OMIM:619717
HP:0033127	Abnormality of the musculoskeletal system	9820	CUL7	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	9820	CUL7	OMIM:273750
HP:0033127	Abnormality of the musculoskeletal system	23363	OBSL1	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	83987	CCDC8	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	83987	CCDC8	OMIM:614205
HP:0033127	Abnormality of the musculoskeletal system	7021	TFAP2B	OMIM:169100
HP:0033127	Abnormality of the musculoskeletal system	7021	TFAP2B	ORPHA:46627
HP:0033127	Abnormality of the musculoskeletal system	7021	TFAP2B	OMIM:617035
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	ORPHA:231140
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	ORPHA:231144
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	OMIM:616489
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	OMIM:180860
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	ORPHA:397590
HP:0033127	Abnormality of the musculoskeletal system	283120	H19	ORPHA:231140
HP:0033127	Abnormality of the musculoskeletal system	283120	H19	ORPHA:231144
HP:0033127	Abnormality of the musculoskeletal system	197131	UBR1	OMIM:243800
HP:0033127	Abnormality of the musculoskeletal system	5932	RBBP8	OMIM:606744
HP:0033127	Abnormality of the musculoskeletal system	5932	RBBP8	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	4286	MITF	OMIM:617306
HP:0033127	Abnormality of the musculoskeletal system	23384	SPECC1L	ORPHA:1519
HP:0033127	Abnormality of the musculoskeletal system	112752	IFT43	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	51098	IFT52	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	55764	IFT122	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	57728	WDR19	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	55636	CHD7	ORPHA:138
HP:0033127	Abnormality of the musculoskeletal system	9723	SEMA3E	ORPHA:138
HP:0033127	Abnormality of the musculoskeletal system	90	ACVR1	OMIM:135100
HP:0033127	Abnormality of the musculoskeletal system	90	ACVR1	ORPHA:337
HP:0033127	Abnormality of the musculoskeletal system	3190	HNRNPK	OMIM:616580
HP:0033127	Abnormality of the musculoskeletal system	54880	BCOR	ORPHA:2712
HP:0033127	Abnormality of the musculoskeletal system	54880	BCOR	ORPHA:568
HP:0033127	Abnormality of the musculoskeletal system	10606	PAICS	OMIM:619859
HP:0033127	Abnormality of the musculoskeletal system	1009	CDH11	OMIM:619736
HP:0033127	Abnormality of the musculoskeletal system	652	BMP4	OMIM:607932
HP:0033127	Abnormality of the musculoskeletal system	1301	COL11A1	OMIM:228520
HP:0033127	Abnormality of the musculoskeletal system	1301	COL11A1	OMIM:154780
HP:0033127	Abnormality of the musculoskeletal system	23327	NEDD4L	OMIM:617201
HP:0033127	Abnormality of the musculoskeletal system	7291	TWIST1	OMIM:101400
HP:0033127	Abnormality of the musculoskeletal system	7291	TWIST1	ORPHA:794
HP:0033127	Abnormality of the musculoskeletal system	3981	LIG4	ORPHA:235
HP:0033127	Abnormality of the musculoskeletal system	3981	LIG4	ORPHA:99812
HP:0033127	Abnormality of the musculoskeletal system	3981	LIG4	OMIM:606593
HP:0033127	Abnormality of the musculoskeletal system	54888	NSUN2	ORPHA:235
HP:0033127	Abnormality of the musculoskeletal system	1182	CLCN3	OMIM:619512
HP:0033127	Abnormality of the musculoskeletal system	85301	COL27A1	OMIM:615155
HP:0033127	Abnormality of the musculoskeletal system	5048	PAFAH1B1	ORPHA:217385
HP:0033127	Abnormality of the musculoskeletal system	5048	PAFAH1B1	ORPHA:531
HP:0033127	Abnormality of the musculoskeletal system	7531	YWHAE	ORPHA:217385
HP:0033127	Abnormality of the musculoskeletal system	7531	YWHAE	ORPHA:531
HP:0033127	Abnormality of the musculoskeletal system	2121	EVC	OMIM:193530
HP:0033127	Abnormality of the musculoskeletal system	2121	EVC	ORPHA:952
HP:0033127	Abnormality of the musculoskeletal system	132884	EVC2	OMIM:193530
HP:0033127	Abnormality of the musculoskeletal system	132884	EVC2	ORPHA:952
HP:0033127	Abnormality of the musculoskeletal system	8364	H4C3	OMIM:619758
HP:0033127	Abnormality of the musculoskeletal system	5590	PRKCZ	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	2563	GABRD	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	8510	MMP23B	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	7798	LUZP1	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	6497	SKI	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	10630	PDPN	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	3339	HSPG2	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	10277	UBE4B	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	8514	KCNAB2	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	473	RERE	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	473	RERE	OMIM:616975
HP:0033127	Abnormality of the musculoskeletal system	63976	PRDM16	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	54897	CASZ1	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	641	BLM	OMIM:210900
HP:0033127	Abnormality of the musculoskeletal system	57492	ARID1B	ORPHA:251056
HP:0033127	Abnormality of the musculoskeletal system	57492	ARID1B	OMIM:135900
HP:0033127	Abnormality of the musculoskeletal system	63895	PIEZO2	ORPHA:376
HP:0033127	Abnormality of the musculoskeletal system	23314	SATB2	ORPHA:576283
HP:0033127	Abnormality of the musculoskeletal system	23314	SATB2	ORPHA:251028
HP:0033127	Abnormality of the musculoskeletal system	23314	SATB2	ORPHA:251019
HP:0033127	Abnormality of the musculoskeletal system	2239	GPC4	ORPHA:373
HP:0033127	Abnormality of the musculoskeletal system	2239	GPC4	ORPHA:2662
HP:0033127	Abnormality of the musculoskeletal system	2719	GPC3	ORPHA:373
HP:0033127	Abnormality of the musculoskeletal system	23162	MAPK8IP3	OMIM:618443
HP:0033127	Abnormality of the musculoskeletal system	2317	FLNB	OMIM:272460
HP:0033127	Abnormality of the musculoskeletal system	79087	ALG12	ORPHA:79324
HP:0033127	Abnormality of the musculoskeletal system	6473	SHOX	ORPHA:240
HP:0033127	Abnormality of the musculoskeletal system	26100	WIPI2	OMIM:618453
HP:0033127	Abnormality of the musculoskeletal system	10533	ATG7	OMIM:619422
HP:0033127	Abnormality of the musculoskeletal system	8295	TRRAP	OMIM:618454
HP:0033127	Abnormality of the musculoskeletal system	9742	IFT140	OMIM:266920
HP:0033127	Abnormality of the musculoskeletal system	7227	TRPS1	ORPHA:77258
HP:0033127	Abnormality of the musculoskeletal system	3479	IGF1	ORPHA:73272
HP:0033127	Abnormality of the musculoskeletal system	3479	IGF1	OMIM:608747
HP:0033127	Abnormality of the musculoskeletal system	650	BMP2	OMIM:112600
HP:0033127	Abnormality of the musculoskeletal system	650	BMP2	ORPHA:93396
HP:0033127	Abnormality of the musculoskeletal system	650	BMP2	OMIM:617877
HP:0033127	Abnormality of the musculoskeletal system	6477	SIAH1	OMIM:619314
HP:0033127	Abnormality of the musculoskeletal system	8473	OGT	OMIM:300997
HP:0033127	Abnormality of the musculoskeletal system	1798	DPAGT1	OMIM:608093
HP:0033127	Abnormality of the musculoskeletal system	100151683	RNU4ATAC	ORPHA:353298
HP:0033127	Abnormality of the musculoskeletal system	100151683	RNU4ATAC	OMIM:226960
HP:0033127	Abnormality of the musculoskeletal system	100151683	RNU4ATAC	OMIM:616651
HP:0033127	Abnormality of the musculoskeletal system	100151683	RNU4ATAC	ORPHA:2636
HP:0033127	Abnormality of the musculoskeletal system	117581	TWIST2	OMIM:200110
HP:0033127	Abnormality of the musculoskeletal system	117581	TWIST2	OMIM:209885
HP:0033127	Abnormality of the musculoskeletal system	23030	KDM4B	OMIM:619320
HP:0033127	Abnormality of the musculoskeletal system	9126	SMC3	OMIM:610759
HP:0033127	Abnormality of the musculoskeletal system	9126	SMC3	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	1725	DHPS	OMIM:618480
HP:0033127	Abnormality of the musculoskeletal system	55777	MBD5	OMIM:156200
HP:0033127	Abnormality of the musculoskeletal system	55777	MBD5	ORPHA:228402
HP:0033127	Abnormality of the musculoskeletal system	5980	REV3L	ORPHA:570
HP:0033127	Abnormality of the musculoskeletal system	23129	PLXND1	ORPHA:570
HP:0033127	Abnormality of the musculoskeletal system	4784	NFIX	OMIM:602535
HP:0033127	Abnormality of the musculoskeletal system	4998	ORC1	OMIM:224690
HP:0033127	Abnormality of the musculoskeletal system	4998	ORC1	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	4052	LTBP1	OMIM:619451
HP:0033127	Abnormality of the musculoskeletal system	8260	NAA10	OMIM:300855
HP:0033127	Abnormality of the musculoskeletal system	8260	NAA10	ORPHA:568
HP:0033127	Abnormality of the musculoskeletal system	9496	TBX4	ORPHA:261279
HP:0033127	Abnormality of the musculoskeletal system	8091	HMGA2	ORPHA:94063
HP:0033127	Abnormality of the musculoskeletal system	8091	HMGA2	ORPHA:397590
HP:0033127	Abnormality of the musculoskeletal system	164	AP1G1	OMIM:619467
HP:0033127	Abnormality of the musculoskeletal system	5283	PIGH	OMIM:618010
HP:0033127	Abnormality of the musculoskeletal system	50801	KCNK4	OMIM:618381
HP:0033127	Abnormality of the musculoskeletal system	9757	KMT2B	ORPHA:589618
HP:0033127	Abnormality of the musculoskeletal system	4613	MYCN	ORPHA:391641
HP:0033127	Abnormality of the musculoskeletal system	57003	CCDC47	OMIM:618268
HP:0033127	Abnormality of the musculoskeletal system	5977	DPF2	OMIM:618027
HP:0033127	Abnormality of the musculoskeletal system	94005	PIGS	OMIM:618143
HP:0033127	Abnormality of the musculoskeletal system	145173	B3GLCT	OMIM:261540
HP:0033127	Abnormality of the musculoskeletal system	145173	B3GLCT	ORPHA:709
HP:0033127	Abnormality of the musculoskeletal system	92002	CCNQ	OMIM:300707
HP:0033127	Abnormality of the musculoskeletal system	92002	CCNQ	ORPHA:140952
HP:0033127	Abnormality of the musculoskeletal system	285590	SH3PXD2B	ORPHA:137834
HP:0033127	Abnormality of the musculoskeletal system	526	ATP6V1B2	ORPHA:79500
HP:0033127	Abnormality of the musculoskeletal system	57465	TBC1D24	ORPHA:79500
HP:0033127	Abnormality of the musculoskeletal system	57465	TBC1D24	OMIM:220500
HP:0033127	Abnormality of the musculoskeletal system	5728	PTEN	ORPHA:744
HP:0033127	Abnormality of the musculoskeletal system	207	AKT1	ORPHA:744
HP:0033127	Abnormality of the musculoskeletal system	2887	GRB10	ORPHA:96182
HP:0033127	Abnormality of the musculoskeletal system	1457	CSNK2A1	OMIM:617062
HP:0033127	Abnormality of the musculoskeletal system	51715	RAB23	OMIM:201000
HP:0033127	Abnormality of the musculoskeletal system	28952	CCDC22	OMIM:300963
HP:0033127	Abnormality of the musculoskeletal system	90416	CCDC32	OMIM:619123
HP:0033127	Abnormality of the musculoskeletal system	8450	CUL4B	ORPHA:85293
HP:0033127	Abnormality of the musculoskeletal system	55717	WDR11	OMIM:620237
HP:0033127	Abnormality of the musculoskeletal system	118924	FRA10AC1	OMIM:620113
HP:0033127	Abnormality of the musculoskeletal system	22995	CEP152	OMIM:613823
HP:0033127	Abnormality of the musculoskeletal system	22995	CEP152	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	3549	IHH	OMIM:112500
HP:0033127	Abnormality of the musculoskeletal system	3549	IHH	ORPHA:93388
HP:0033127	Abnormality of the musculoskeletal system	3090	HIC1	ORPHA:531
HP:0033127	Abnormality of the musculoskeletal system	10436	EMG1	OMIM:211180
HP:0033127	Abnormality of the musculoskeletal system	10436	EMG1	ORPHA:1270
HP:0033127	Abnormality of the musculoskeletal system	23387	SIK3	OMIM:618162
HP:0033127	Abnormality of the musculoskeletal system	10084	PQBP1	OMIM:309500
HP:0033127	Abnormality of the musculoskeletal system	5745	PTH1R	OMIM:156400
HP:0033127	Abnormality of the musculoskeletal system	89970	RSPRY1	ORPHA:457395
HP:0033127	Abnormality of the musculoskeletal system	9487	PIGL	OMIM:280000
HP:0033127	Abnormality of the musculoskeletal system	22800	RRAS2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	867	CBL	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	8216	LZTR1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6016	RIT1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6237	RRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	5894	RAF1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	22808	MRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	3845	KRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	200734	SPRED2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	4893	NRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6654	SOS1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6655	SOS2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	5781	PTPN11	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	5922	RASA2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	23522	KAT6B	ORPHA:3047
HP:0033127	Abnormality of the musculoskeletal system	6913	TBX15	OMIM:260660
HP:0033127	Abnormality of the musculoskeletal system	79023	NUP37	OMIM:618179
HP:0033127	Abnormality of the musculoskeletal system	375056	MIA3	OMIM:619269
HP:0033127	Abnormality of the musculoskeletal system	27161	AGO2	OMIM:619149
HP:0033127	Abnormality of the musculoskeletal system	5567	PRKACB	OMIM:619143
HP:0033127	Abnormality of the musculoskeletal system	221927	BRAT1	OMIM:618056
HP:0033127	Abnormality of the musculoskeletal system	8823	FGF16	OMIM:309630
HP:0033127	Abnormality of the musculoskeletal system	5518	PPP2R1A	ORPHA:457284
HP:0033127	Abnormality of the musculoskeletal system	161742	SPRED1	ORPHA:137605
HP:0033127	Abnormality of the musculoskeletal system	7337	UBE3A	ORPHA:238446
HP:0033127	Abnormality of the musculoskeletal system	1832	DSP	ORPHA:158687
HP:0033127	Abnormality of the musculoskeletal system	1832	DSP	OMIM:609638
HP:0033127	Abnormality of the musculoskeletal system	3728	JUP	ORPHA:158687
HP:0033127	Abnormality of the musculoskeletal system	23241	PACS2	OMIM:618067
HP:0033127	Abnormality of the musculoskeletal system	5885	RAD21	OMIM:614701
HP:0033127	Abnormality of the musculoskeletal system	5885	RAD21	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	7518	XRCC4	ORPHA:99812
HP:0033127	Abnormality of the musculoskeletal system	3209	HOXA13	OMIM:140000
HP:0033127	Abnormality of the musculoskeletal system	3209	HOXA13	ORPHA:2438
HP:0033127	Abnormality of the musculoskeletal system	8854	ALDH1A2	OMIM:620025
HP:0033127	Abnormality of the musculoskeletal system	10274	STAG1	ORPHA:502434
HP:0033127	Abnormality of the musculoskeletal system	9241	NOG	ORPHA:3250
HP:0033127	Abnormality of the musculoskeletal system	9241	NOG	OMIM:186500
HP:0033127	Abnormality of the musculoskeletal system	613	BCR	ORPHA:261330
HP:0033127	Abnormality of the musculoskeletal system	1399	CRKL	ORPHA:261330
HP:0033127	Abnormality of the musculoskeletal system	89910	UBE3B	OMIM:244450
HP:0033127	Abnormality of the musculoskeletal system	2314	FLII	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	23096	IQSEC2	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	10743	RAI1	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	10522	DEAF1	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	150468	CKAP2L	ORPHA:3255
HP:0033127	Abnormality of the musculoskeletal system	9184	BUB3	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	699	BUB1	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	699	BUB1	OMIM:620183
HP:0033127	Abnormality of the musculoskeletal system	9702	CEP57	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	9702	CEP57	OMIM:614114
HP:0033127	Abnormality of the musculoskeletal system	9319	TRIP13	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	701	BUB1B	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	54476	RNF216	ORPHA:1173
HP:0033127	Abnormality of the musculoskeletal system	10908	PNPLA6	ORPHA:1173
HP:0033127	Abnormality of the musculoskeletal system	23036	ZNF292	OMIM:619188
HP:0033127	Abnormality of the musculoskeletal system	51199	NIN	OMIM:614851
HP:0033127	Abnormality of the musculoskeletal system	51199	NIN	ORPHA:319675
HP:0033127	Abnormality of the musculoskeletal system	1954	MEGF8	OMIM:614976
HP:0033127	Abnormality of the musculoskeletal system	1857	DVL3	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	7474	WNT5A	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	1855	DVL1	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	2535	FZD2	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	2535	FZD2	OMIM:164745
HP:0033127	Abnormality of the musculoskeletal system	26053	AUTS2	OMIM:615834
HP:0033127	Abnormality of the musculoskeletal system	2122	MECOM	ORPHA:71289
HP:0033127	Abnormality of the musculoskeletal system	3207	HOXA11	ORPHA:71289
HP:0033127	Abnormality of the musculoskeletal system	3207	HOXA11	OMIM:605432
HP:0033127	Abnormality of the musculoskeletal system	81031	SLC2A10	ORPHA:3342
HP:0033127	Abnormality of the musculoskeletal system	55165	CEP55	OMIM:236500
HP:0033127	Abnormality of the musculoskeletal system	10236	HNRNPR	OMIM:620073
HP:0033127	Abnormality of the musculoskeletal system	6628	SNRPB	ORPHA:1393
HP:0033127	Abnormality of the musculoskeletal system	6628	SNRPB	OMIM:117650
HP:0033127	Abnormality of the musculoskeletal system	1028	CDKN1C	ORPHA:397590
HP:0033127	Abnormality of the musculoskeletal system	5324	PLAG1	ORPHA:397590
HP:0033127	Abnormality of the musculoskeletal system	9555	MACROH2A1	ORPHA:1275
HP:0033127	Abnormality of the musculoskeletal system	5307	PITX1	ORPHA:1275
HP:0033127	Abnormality of the musculoskeletal system	5422	POLA1	ORPHA:163976
HP:0033127	Abnormality of the musculoskeletal system	5422	POLA1	OMIM:301030
HP:0033127	Abnormality of the musculoskeletal system	55906	ZC4H2	ORPHA:3454
HP:0033127	Abnormality of the musculoskeletal system	10430	TMEM147	OMIM:620075
HP:0033127	Abnormality of the musculoskeletal system	3187	HNRNPH1	OMIM:620083
HP:0033127	Abnormality of the musculoskeletal system	23414	ZFPM2	OMIM:187500
HP:0033127	Abnormality of the musculoskeletal system	23414	ZFPM2	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	1482	NKX2-5	OMIM:187500
HP:0033127	Abnormality of the musculoskeletal system	1482	NKX2-5	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	182	JAG1	OMIM:187500
HP:0033127	Abnormality of the musculoskeletal system	182	JAG1	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	6899	TBX1	OMIM:187500
HP:0033127	Abnormality of the musculoskeletal system	6899	TBX1	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	2627	GATA6	OMIM:187500
HP:0033127	Abnormality of the musculoskeletal system	2627	GATA6	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	545	ATR	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	545	ATR	OMIM:210600
HP:0033127	Abnormality of the musculoskeletal system	1062	CENPE	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	5116	PCNT	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	5116	PCNT	OMIM:210720
HP:0033127	Abnormality of the musculoskeletal system	5116	PCNT	ORPHA:2637
HP:0033127	Abnormality of the musculoskeletal system	79902	NUP85	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	84126	ATRIP	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	55835	CENPJ	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	10293	TRAIP	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	10733	PLK4	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	29123	ANKRD11	OMIM:148050
HP:0033127	Abnormality of the musculoskeletal system	9775	EIF4A3	OMIM:268305
HP:0033127	Abnormality of the musculoskeletal system	2702	GJA5	OMIM:612474
HP:0033127	Abnormality of the musculoskeletal system	2702	GJA5	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	2703	GJA8	OMIM:612474
HP:0033127	Abnormality of the musculoskeletal system	4208	MEF2C	OMIM:613443
HP:0033127	Abnormality of the musculoskeletal system	55690	PACS1	ORPHA:329224
HP:0033127	Abnormality of the musculoskeletal system	22856	CHSY1	ORPHA:363417
HP:0033127	Abnormality of the musculoskeletal system	51621	KLF13	OMIM:612001
HP:0033127	Abnormality of the musculoskeletal system	5648	MASP1	OMIM:257920
HP:0033127	Abnormality of the musculoskeletal system	11133	KPTN	OMIM:615637
HP:0033127	Abnormality of the musculoskeletal system	11133	KPTN	ORPHA:397612
HP:0033127	Abnormality of the musculoskeletal system	85358	SHANK3	OMIM:606232
HP:0033127	Abnormality of the musculoskeletal system	85358	SHANK3	ORPHA:48652
HP:0033127	Abnormality of the musculoskeletal system	137814	NKX2-6	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	3791	KDR	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	2657	GDF1	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	140628	GATA5	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	2324	FLT4	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	10370	CITED2	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	2334	AFF2	ORPHA:100973
HP:0033127	Abnormality of the musculoskeletal system	10847	SRCAP	OMIM:136140
HP:0033127	Abnormality of the musculoskeletal system	54808	DYM	OMIM:223800
HP:0033127	Abnormality of the musculoskeletal system	84679	SLC9A7	OMIM:301024
HP:0033127	Abnormality of the musculoskeletal system	10735	STAG2	OMIM:301022
HP:0033127	Abnormality of the musculoskeletal system	5925	RB1	ORPHA:1587
HP:0033127	Abnormality of the musculoskeletal system	7874	USP7	OMIM:616863
HP:0033127	Abnormality of the musculoskeletal system	3759	KCNJ2	OMIM:170390
HP:0033127	Abnormality of the musculoskeletal system	81620	CDT1	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	5000	ORC4	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	23594	ORC6	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	990	CDC6	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	51053	GMNN	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	25	ABL1	OMIM:617602
HP:0033127	Abnormality of the musculoskeletal system	29980	DONSON	OMIM:617604
HP:0033127	Abnormality of the musculoskeletal system	6638	SNRPN	ORPHA:177907
HP:0033127	Abnormality of the musculoskeletal system	23476	BRD4	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	10664	CTCF	ORPHA:363611
HP:0033127	Abnormality of the musculoskeletal system	22931	RAB18	OMIM:614222
HP:0033127	Abnormality of the musculoskeletal system	490	ATP2B1	OMIM:619910
HP:0033127	Abnormality of the musculoskeletal system	284252	KCTD1	OMIM:181270
HP:0033127	Abnormality of the musculoskeletal system	54870	QRICH1	OMIM:617982
HP:0033127	Abnormality of the musculoskeletal system	139285	AMER1	OMIM:300373
HP:0033127	Abnormality of the musculoskeletal system	4841	NONO	ORPHA:466791
HP:0033127	Abnormality of the musculoskeletal system	1663	DDX11	OMIM:613398
HP:0033127	Abnormality of the musculoskeletal system	2186	BPTF	OMIM:617755
HP:0033127	Abnormality of the musculoskeletal system	59341	TRPV4	ORPHA:2635
HP:0033127	Abnormality of the musculoskeletal system	10225	CD96	ORPHA:1308
HP:0033127	Abnormality of the musculoskeletal system	4848	CNOT2	OMIM:618608
HP:0033127	Abnormality of the musculoskeletal system	64131	XYLT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	124583	CANT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	55790	CSGALNACT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	4204	MECP2	OMIM:300260
HP:0033127	Abnormality of the musculoskeletal system	55553	SOX6	OMIM:618971
HP:0033127	Abnormality of the musculoskeletal system	84148	KAT8	OMIM:618974
HP:0033127	Abnormality of the musculoskeletal system	58499	ZNF462	OMIM:618619
HP:0033127	Abnormality of the musculoskeletal system	84068	SLC10A7	OMIM:618363
HP:0033127	Abnormality of the musculoskeletal system	29072	SETD2	OMIM:616831
HP:0033127	Abnormality of the musculoskeletal system	54187	NANS	OMIM:610442
HP:0033127	Abnormality of the musculoskeletal system	9451	EIF2AK3	OMIM:226980
HP:0033127	Abnormality of the musculoskeletal system	10568	SLC34A2	ORPHA:60025
HP:0033127	Abnormality of the musculoskeletal system	8838	CCN6	ORPHA:1159
HP:0033127	Abnormality of the musculoskeletal system	4148	MATN3	ORPHA:93311
HP:0033127	Abnormality of the musculoskeletal system	3480	IGF1R	ORPHA:73273
HP:0033127	Abnormality of the musculoskeletal system	4921	DDR2	OMIM:271665
HP:0033127	Abnormality of the musculoskeletal system	124997	WDR81	OMIM:610185
HP:0033127	Abnormality of the musculoskeletal system	79639	TMEM53	OMIM:619727
HP:0033127	Abnormality of the musculoskeletal system	80311	KLHL15	OMIM:300982
HP:0033127	Abnormality of the musculoskeletal system	55012	PPP2R3C	OMIM:618419
HP:0033127	Abnormality of the musculoskeletal system	6905	TBCE	OMIM:241410
HP:0033127	Abnormality of the musculoskeletal system	6905	TBCE	OMIM:244460
HP:0033127	Abnormality of the musculoskeletal system	10013	HDAC6	ORPHA:163966
HP:0033127	Abnormality of the musculoskeletal system	9719	ADAMTSL2	OMIM:231050
HP:0033127	Abnormality of the musculoskeletal system	79718	TBL1XR1	OMIM:602342
HP:0033127	Abnormality of the musculoskeletal system	1298	COL9A2	OMIM:600204
HP:0033127	Abnormality of the musculoskeletal system	28957	MRPS28	OMIM:618958
HP:0033127	Abnormality of the musculoskeletal system	23261	CAMTA1	OMIM:614756
HP:0033127	Abnormality of the musculoskeletal system	25839	COG4	ORPHA:85172
HP:0033127	Abnormality of the musculoskeletal system	8813	DPM1	OMIM:608799
HP:0033127	Abnormality of the musculoskeletal system	147372	CCBE1	OMIM:235510
HP:0033127	Abnormality of the musculoskeletal system	579	NKX3-2	OMIM:613330
HP:0033127	Abnormality of the musculoskeletal system	6683	SPAST	ORPHA:100985
HP:0033127	Abnormality of the musculoskeletal system	8676	STX11	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	201294	UNC13D	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	6813	STXBP2	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	22854	NTNG1	ORPHA:3095
HP:0033127	Abnormality of the musculoskeletal system	2050	EPHB4	ORPHA:137667
HP:0033127	Abnormality of the musculoskeletal system	5921	RASA1	ORPHA:137667
HP:0033127	Abnormality of the musculoskeletal system	440193	CCDC88C	ORPHA:423275
HP:0033127	Abnormality of the musculoskeletal system	4948	OCA2	ORPHA:98794
HP:0033127	Abnormality of the musculoskeletal system	210	ALAD	ORPHA:100924
HP:0033127	Abnormality of the musculoskeletal system	2911	GRM1	ORPHA:324262
HP:0033127	Abnormality of the musculoskeletal system	79184	BRCC3	ORPHA:280679
HP:0033127	Abnormality of the musculoskeletal system	80199	FUZ	ORPHA:1136
HP:0033127	Abnormality of the musculoskeletal system	57338	JPH3	ORPHA:98934
HP:0033127	Abnormality of the musculoskeletal system	7187	TRAF3	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	81622	UNC93B1	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	148022	TICAM1	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	7098	TLR3	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	5934	RBL2	OMIM:619690
HP:0033127	Abnormality of the musculoskeletal system	1436	CSF1R	OMIM:618476
HP:0033127	Abnormality of the musculoskeletal system	10484	SEC23A	ORPHA:50814
HP:0033127	Abnormality of the musculoskeletal system	4352	MPL	ORPHA:3319
HP:0033127	Abnormality of the musculoskeletal system	7066	THPO	ORPHA:3319
HP:0033127	Abnormality of the musculoskeletal system	84168	ANTXR1	ORPHA:2067
HP:0033127	Abnormality of the musculoskeletal system	26146	TRAF3IP1	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	27130	INVS	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	261734	NPHP4	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	22897	CEP164	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	79879	CCDC134	OMIM:619795
HP:0033127	Abnormality of the musculoskeletal system	29887	SNX10	ORPHA:667
HP:0033127	Abnormality of the musculoskeletal system	1586	CYP17A1	ORPHA:90796
HP:0033127	Abnormality of the musculoskeletal system	7486	WRN	OMIM:277700
HP:0033127	Abnormality of the musculoskeletal system	4773	NFATC2	OMIM:620232
HP:0033127	Abnormality of the musculoskeletal system	2592	GALT	ORPHA:79239
HP:0033127	Abnormality of the musculoskeletal system	1027	CDKN1B	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1026	CDKN1A	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1030	CDKN2B	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1031	CDKN2C	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	23554	TSPAN12	ORPHA:891
HP:0033127	Abnormality of the musculoskeletal system	79797	ZNF408	ORPHA:891
HP:0033127	Abnormality of the musculoskeletal system	8322	FZD4	ORPHA:891
HP:0033127	Abnormality of the musculoskeletal system	55898	UNC45A	OMIM:619377
HP:0033127	Abnormality of the musculoskeletal system	1583	CYP11A1	ORPHA:168558
HP:0033127	Abnormality of the musculoskeletal system	1583	CYP11A1	ORPHA:289548
HP:0033127	Abnormality of the musculoskeletal system	2717	GLA	ORPHA:324
HP:0033127	Abnormality of the musculoskeletal system	23586	RIGI	OMIM:616298
HP:0033127	Abnormality of the musculoskeletal system	4091	SMAD6	ORPHA:402075
HP:0033127	Abnormality of the musculoskeletal system	169792	GLIS3	OMIM:610199
HP:0033127	Abnormality of the musculoskeletal system	55331	ACER3	OMIM:617762
HP:0033127	Abnormality of the musculoskeletal system	57194	ATP10A	ORPHA:411515
HP:0033127	Abnormality of the musculoskeletal system	84701	COX4I2	OMIM:612714
HP:0033127	Abnormality of the musculoskeletal system	183	AGT	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	5972	REN	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	185	AGTR1	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	1636	ACE	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	126695	KDF1	OMIM:617337
HP:0033127	Abnormality of the musculoskeletal system	7389	UROD	ORPHA:95159
HP:0033127	Abnormality of the musculoskeletal system	26281	FGF20	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	2674	GFRA1	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	7484	WNT9B	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	80000	GREB1L	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	ORPHA:103918
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	ORPHA:103918
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	OMIM:608189
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	5644	PRSS1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	5644	PRSS1	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	5645	PRSS2	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	5645	PRSS2	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	1357	CPA1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	7450	VWF	OMIM:193400
HP:0033127	Abnormality of the musculoskeletal system	7450	VWF	OMIM:277480
HP:0033127	Abnormality of the musculoskeletal system	2160	F11	ORPHA:329
HP:0033127	Abnormality of the musculoskeletal system	2153	F5	ORPHA:326
HP:0033127	Abnormality of the musculoskeletal system	3998	LMAN1	ORPHA:35909
HP:0033127	Abnormality of the musculoskeletal system	90411	MCFD2	ORPHA:35909
HP:0033127	Abnormality of the musculoskeletal system	5328	PLAU	OMIM:601709
HP:0033127	Abnormality of the musculoskeletal system	22884	WDR37	OMIM:618652
HP:0033127	Abnormality of the musculoskeletal system	57468	SLC12A5	OMIM:616645
HP:0033127	Abnormality of the musculoskeletal system	7840	ALMS1	ORPHA:64
HP:0033127	Abnormality of the musculoskeletal system	7840	ALMS1	OMIM:203800
HP:0033127	Abnormality of the musculoskeletal system	4158	MC2R	OMIM:202200
HP:0033127	Abnormality of the musculoskeletal system	3290	HSD11B1	OMIM:614662
HP:0033127	Abnormality of the musculoskeletal system	84282	RNF135	ORPHA:137634
HP:0033127	Abnormality of the musculoskeletal system	1584	CYP11B1	OMIM:202010
HP:0033127	Abnormality of the musculoskeletal system	1584	CYP11B1	ORPHA:90795
HP:0033127	Abnormality of the musculoskeletal system	3952	LEP	ORPHA:66628
HP:0033127	Abnormality of the musculoskeletal system	4221	MEN1	ORPHA:99725
HP:0033127	Abnormality of the musculoskeletal system	1588	CYP19A1	OMIM:139300
HP:0033127	Abnormality of the musculoskeletal system	10984	KCNQ1OT1	OMIM:130650
HP:0033127	Abnormality of the musculoskeletal system	3784	KCNQ1	OMIM:130650
HP:0033127	Abnormality of the musculoskeletal system	3973	LHCGR	ORPHA:3000
HP:0033127	Abnormality of the musculoskeletal system	3953	LEPR	ORPHA:179494
HP:0033127	Abnormality of the musculoskeletal system	3170	FOXA2	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	6658	SOX3	ORPHA:90695
HP:0033127	Abnormality of the musculoskeletal system	4222	MEOX1	ORPHA:2345
HP:0033127	Abnormality of the musculoskeletal system	3081	HGD	ORPHA:56
HP:0033127	Abnormality of the musculoskeletal system	4907	NT5E	OMIM:211800
HP:0033127	Abnormality of the musculoskeletal system	1297	COL9A1	OMIM:614135
HP:0033127	Abnormality of the musculoskeletal system	1147	CHUK	OMIM:619339
HP:0033127	Abnormality of the musculoskeletal system	6522	SLC4A2	OMIM:620366
HP:0033127	Abnormality of the musculoskeletal system	83932	SPRTN	OMIM:616200
HP:0033127	Abnormality of the musculoskeletal system	3594	IL12RB1	ORPHA:319552
HP:0033127	Abnormality of the musculoskeletal system	64802	NMNAT1	OMIM:619260
HP:0033127	Abnormality of the musculoskeletal system	1893	ECM1	OMIM:247100
HP:0033127	Abnormality of the musculoskeletal system	64421	DCLRE1C	ORPHA:275
HP:0033127	Abnormality of the musculoskeletal system	144811	LACC1	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	4282	MIF	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	3569	IL6	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	342035	GLDN	OMIM:617194
HP:0033127	Abnormality of the musculoskeletal system	23118	TAB2	ORPHA:228410
HP:0033127	Abnormality of the musculoskeletal system	5076	PAX2	ORPHA:1475
HP:0033127	Abnormality of the musculoskeletal system	716	C1S	ORPHA:75392
HP:0033127	Abnormality of the musculoskeletal system	80781	COL18A1	ORPHA:1571
HP:0033127	Abnormality of the musculoskeletal system	5062	PAK2	ORPHA:1571
HP:0033127	Abnormality of the musculoskeletal system	84695	LOXL3	ORPHA:250984
HP:0033127	Abnormality of the musculoskeletal system	5167	ENPP1	ORPHA:758
HP:0033127	Abnormality of the musculoskeletal system	368	ABCC6	ORPHA:758
HP:0033127	Abnormality of the musculoskeletal system	81607	NECTIN4	OMIM:613573
HP:0033127	Abnormality of the musculoskeletal system	9652	SKIC3	OMIM:222470
HP:0033127	Abnormality of the musculoskeletal system	7128	TNFAIP3	OMIM:616744
HP:0033127	Abnormality of the musculoskeletal system	7132	TNFRSF1A	OMIM:142680
HP:0033127	Abnormality of the musculoskeletal system	26525	IL36RN	OMIM:614204
HP:0033127	Abnormality of the musculoskeletal system	6583	SLC22A4	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	4261	CIITA	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	51744	CD244	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	4795	NFKBIL1	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	8540	AGPS	OMIM:600121
HP:0033127	Abnormality of the musculoskeletal system	9365	KL	OMIM:617994
HP:0033127	Abnormality of the musculoskeletal system	10586	MAB21L2	OMIM:615877
HP:0033127	Abnormality of the musculoskeletal system	341640	FREM2	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	80144	FRAS1	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	23426	GRIP1	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	9790	BMS1	ORPHA:1114
HP:0033127	Abnormality of the musculoskeletal system	3691	ITGB4	ORPHA:1114
HP:0033127	Abnormality of the musculoskeletal system	1500	CTNND1	ORPHA:1997
HP:0033127	Abnormality of the musculoskeletal system	999	CDH1	ORPHA:1997
HP:0033127	Abnormality of the musculoskeletal system	134701	RIPPLY2	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	10683	DLL3	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	84667	HES7	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	145873	MESP2	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	9508	ADAMTS3	ORPHA:2136
HP:0033127	Abnormality of the musculoskeletal system	2767	GNA11	ORPHA:1556
HP:0033127	Abnormality of the musculoskeletal system	151188	ARL6IP6	ORPHA:1556
HP:0033127	Abnormality of the musculoskeletal system	284098	PIGW	ORPHA:247262
HP:0033127	Abnormality of the musculoskeletal system	64094	SMOC2	OMIM:125400
HP:0033127	Abnormality of the musculoskeletal system	3655	ITGA6	ORPHA:79403
HP:0033127	Abnormality of the musculoskeletal system	57217	TTC7A	OMIM:243150
HP:0033127	Abnormality of the musculoskeletal system	79977	GRHL2	OMIM:616029
HP:0033127	Abnormality of the musculoskeletal system	128178	EDARADD	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	5083	PAX9	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	7341	SUMO1	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	80326	WNT10A	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	8313	AXIN2	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	7039	TGFA	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	2184	FAH	ORPHA:882
HP:0033127	Abnormality of the musculoskeletal system	10861	SLC26A1	OMIM:620372
HP:0033127	Abnormality of the musculoskeletal system	5002	SLC22A18	OMIM:268210
HP:0033127	Abnormality of the musculoskeletal system	8013	NR4A3	OMIM:612237
HP:0033127	Abnormality of the musculoskeletal system	2308	FOXO1	OMIM:268220
HP:0033127	Abnormality of the musculoskeletal system	9817	KEAP1	ORPHA:276399
HP:0033127	Abnormality of the musculoskeletal system	2639	GCDH	ORPHA:25
HP:0033127	Abnormality of the musculoskeletal system	23312	DMXL2	OMIM:618663
HP:0033127	Abnormality of the musculoskeletal system	92335	STRADA	ORPHA:500533
HP:0033127	Abnormality of the musculoskeletal system	3704	ITPA	OMIM:616647
HP:0033127	Abnormality of the musculoskeletal system	2643	GCH1	OMIM:233910
HP:0033127	Abnormality of the musculoskeletal system	55624	POMGNT1	OMIM:253280
HP:0033127	Abnormality of the musculoskeletal system	22845	DOLK	ORPHA:91131
HP:0033127	Abnormality of the musculoskeletal system	136647	MPLKIP	OMIM:234050
HP:0033127	Abnormality of the musculoskeletal system	8818	DPM2	OMIM:615042
HP:0033127	Abnormality of the musculoskeletal system	7170	TPM3	ORPHA:171433
HP:0033127	Abnormality of the musculoskeletal system	11041	B4GAT1	OMIM:615287
HP:0033127	Abnormality of the musculoskeletal system	4726	NDUFS6	OMIM:618232
HP:0033127	Abnormality of the musculoskeletal system	55670	PEX26	OMIM:614872
HP:0033127	Abnormality of the musculoskeletal system	55670	PEX26	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	51244	CCDC174	OMIM:616816
HP:0033127	Abnormality of the musculoskeletal system	29954	POMT2	OMIM:236670
HP:0033127	Abnormality of the musculoskeletal system	29954	POMT2	OMIM:613150
HP:0033127	Abnormality of the musculoskeletal system	9215	LARGE1	OMIM:236670
HP:0033127	Abnormality of the musculoskeletal system	9215	LARGE1	OMIM:613154
HP:0033127	Abnormality of the musculoskeletal system	55033	FKBP14	ORPHA:300179
HP:0033127	Abnormality of the musculoskeletal system	200205	IBA57	OMIM:615330
HP:0033127	Abnormality of the musculoskeletal system	5194	PEX13	OMIM:614883
HP:0033127	Abnormality of the musculoskeletal system	5194	PEX13	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	27315	PGAP2	OMIM:614207
HP:0033127	Abnormality of the musculoskeletal system	55005	RMND1	OMIM:614922
HP:0033127	Abnormality of the musculoskeletal system	93627	TBCK	OMIM:616900
HP:0033127	Abnormality of the musculoskeletal system	93627	TBCK	ORPHA:488632
HP:0033127	Abnormality of the musculoskeletal system	51008	ASCC1	OMIM:616867
HP:0033127	Abnormality of the musculoskeletal system	9325	TRIP4	OMIM:616866
HP:0033127	Abnormality of the musculoskeletal system	64116	SLC39A8	ORPHA:468699
HP:0033127	Abnormality of the musculoskeletal system	57731	SPTBN4	OMIM:617519
HP:0033127	Abnormality of the musculoskeletal system	148789	B3GALNT2	OMIM:615181
HP:0033127	Abnormality of the musculoskeletal system	84706	GPT2	ORPHA:477673
HP:0033127	Abnormality of the musculoskeletal system	6576	SLC25A1	OMIM:615182
HP:0033127	Abnormality of the musculoskeletal system	7317	UBA1	OMIM:301830
HP:0033127	Abnormality of the musculoskeletal system	2902	GRIN1	OMIM:614254
HP:0033127	Abnormality of the musculoskeletal system	79587	CARS2	OMIM:616672
HP:0033127	Abnormality of the musculoskeletal system	5813	PURA	ORPHA:438216
HP:0033127	Abnormality of the musculoskeletal system	5813	PURA	ORPHA:314655
HP:0033127	Abnormality of the musculoskeletal system	5824	PEX19	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5828	PEX2	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	8504	PEX3	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	8799	PEX11B	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	9409	PEX16	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5830	PEX5	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5189	PEX1	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5193	PEX12	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5195	PEX14	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5192	PEX10	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	6507	SLC1A3	OMIM:612656
HP:0033127	Abnormality of the musculoskeletal system	478	ATP1A3	OMIM:601338
HP:0033127	Abnormality of the musculoskeletal system	57688	ZSWIM6	ORPHA:1827
HP:0033127	Abnormality of the musculoskeletal system	57498	KIDINS220	OMIM:617296
HP:0033127	Abnormality of the musculoskeletal system	9197	SLC33A1	ORPHA:171863
HP:0033127	Abnormality of the musculoskeletal system	23516	SLC39A14	OMIM:617013
HP:0033127	Abnormality of the musculoskeletal system	55149	MTPAP	OMIM:613672
HP:0033127	Abnormality of the musculoskeletal system	55149	MTPAP	ORPHA:254343
HP:0033127	Abnormality of the musculoskeletal system	6389	SDHA	ORPHA:3208
HP:0033127	Abnormality of the musculoskeletal system	644096	SDHAF1	ORPHA:3208
HP:0033127	Abnormality of the musculoskeletal system	54834	GDAP2	OMIM:618369
HP:0033127	Abnormality of the musculoskeletal system	100147744	RNU7-1	OMIM:619487
HP:0033127	Abnormality of the musculoskeletal system	5917	RARS1	ORPHA:438114
HP:0033127	Abnormality of the musculoskeletal system	283989	TSEN54	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	116461	TSEN15	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	79042	TSEN34	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	80746	TSEN2	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	51091	SEPSECS	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	5010	CLDN11	OMIM:619328
HP:0033127	Abnormality of the musculoskeletal system	137492	VPS37A	OMIM:614898
HP:0033127	Abnormality of the musculoskeletal system	3798	KIF5A	OMIM:604187
HP:0033127	Abnormality of the musculoskeletal system	6904	TBCD	OMIM:617193
HP:0033127	Abnormality of the musculoskeletal system	85465	SELENOI	OMIM:618768
HP:0033127	Abnormality of the musculoskeletal system	23503	ZFYVE26	ORPHA:100996
HP:0033127	Abnormality of the musculoskeletal system	2583	B4GALNT1	OMIM:609195
HP:0033127	Abnormality of the musculoskeletal system	6304	SATB1	OMIM:619229
HP:0033127	Abnormality of the musculoskeletal system	57156	TMEM63C	OMIM:619966
HP:0033127	Abnormality of the musculoskeletal system	57187	THOC2	ORPHA:457240
HP:0033127	Abnormality of the musculoskeletal system	220296	HEPACAM	OMIM:613925
HP:0033127	Abnormality of the musculoskeletal system	1201	CLN3	ORPHA:228346
HP:0033127	Abnormality of the musculoskeletal system	27247	NFU1	OMIM:605711
HP:0033127	Abnormality of the musculoskeletal system	1282	COL4A1	OMIM:175780
HP:0033127	Abnormality of the musculoskeletal system	112476	PRRT2	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	477	ATP1A2	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	8600	TNFSF11	OMIM:259710
HP:0033127	Abnormality of the musculoskeletal system	340075	ARSI	ORPHA:401815
HP:0033127	Abnormality of the musculoskeletal system	9420	CYP7B1	ORPHA:100986
HP:0033127	Abnormality of the musculoskeletal system	9420	CYP7B1	OMIM:270800
HP:0033127	Abnormality of the musculoskeletal system	9255	AIMP1	OMIM:260600
HP:0033127	Abnormality of the musculoskeletal system	4744	NEFH	OMIM:616924
HP:0033127	Abnormality of the musculoskeletal system	10342	TFG	OMIM:615658
HP:0033127	Abnormality of the musculoskeletal system	64856	VWA1	OMIM:619216
HP:0033127	Abnormality of the musculoskeletal system	122622	ADSS1	ORPHA:482601
HP:0033127	Abnormality of the musculoskeletal system	6253	RTN2	ORPHA:100993
HP:0033127	Abnormality of the musculoskeletal system	51271	UBAP1	ORPHA:100993
HP:0033127	Abnormality of the musculoskeletal system	55210	ATAD3A	ORPHA:496790
HP:0033127	Abnormality of the musculoskeletal system	8566	PDXK	OMIM:618511
HP:0033127	Abnormality of the musculoskeletal system	10667	FARS2	OMIM:617046
HP:0033127	Abnormality of the musculoskeletal system	10667	FARS2	ORPHA:466722
HP:0033127	Abnormality of the musculoskeletal system	84668	HYCC1	OMIM:610532
HP:0033127	Abnormality of the musculoskeletal system	128486	FITM2	OMIM:618635
HP:0033127	Abnormality of the musculoskeletal system	64135	IFIH1	OMIM:615846
HP:0033127	Abnormality of the musculoskeletal system	25939	SAMHD1	OMIM:612952
HP:0033127	Abnormality of the musculoskeletal system	11277	TREX1	OMIM:225750
HP:0033127	Abnormality of the musculoskeletal system	11340	EXOSC8	OMIM:616081
HP:0033127	Abnormality of the musculoskeletal system	81545	FBXO38	OMIM:615575
HP:0033127	Abnormality of the musculoskeletal system	6607	SMN2	OMIM:253400
HP:0033127	Abnormality of the musculoskeletal system	51305	KCNK9	ORPHA:166108
HP:0033127	Abnormality of the musculoskeletal system	7443	VRK1	OMIM:607596
HP:0033127	Abnormality of the musculoskeletal system	2073	ERCC5	OMIM:616570
HP:0033127	Abnormality of the musculoskeletal system	30813	VSX1	OMIM:614195
HP:0033127	Abnormality of the musculoskeletal system	18	ABAT	OMIM:613163
HP:0033127	Abnormality of the musculoskeletal system	1801	DPH1	ORPHA:459061
HP:0033127	Abnormality of the musculoskeletal system	81839	VANGL1	OMIM:600145
HP:0033127	Abnormality of the musculoskeletal system	3110	MNX1	OMIM:176450
HP:0033127	Abnormality of the musculoskeletal system	4524	MTHFR	ORPHA:395
HP:0033127	Abnormality of the musculoskeletal system	3839	KPNA3	OMIM:620106
HP:0033127	Abnormality of the musculoskeletal system	3839	KPNA3	ORPHA:171612
HP:0033127	Abnormality of the musculoskeletal system	5165	PDK3	ORPHA:352675
HP:0033127	Abnormality of the musculoskeletal system	23175	LPIN1	ORPHA:99845
HP:0033127	Abnormality of the musculoskeletal system	5702	PSMC3	OMIM:619354
HP:0033127	Abnormality of the musculoskeletal system	57477	SHROOM4	ORPHA:85288
HP:0033127	Abnormality of the musculoskeletal system	8218	CLTCL1	ORPHA:453510
HP:0033127	Abnormality of the musculoskeletal system	29928	TIMM22	OMIM:618851
HP:0033127	Abnormality of the musculoskeletal system	25885	POLR1A	OMIM:616462
HP:0033127	Abnormality of the musculoskeletal system	8546	AP3B1	OMIM:608233
HP:0033127	Abnormality of the musculoskeletal system	2487	FRZB	OMIM:165720
HP:0033127	Abnormality of the musculoskeletal system	5138	PDE2A	OMIM:619150
HP:0033127	Abnormality of the musculoskeletal system	375387	NRROS	OMIM:618875
HP:0033127	Abnormality of the musculoskeletal system	10565	ARFGEF1	OMIM:619964
HP:0033127	Abnormality of the musculoskeletal system	6844	VAMP2	OMIM:618760
HP:0033127	Abnormality of the musculoskeletal system	10087	CERT1	OMIM:616351
HP:0033127	Abnormality of the musculoskeletal system	7701	ZNF142	OMIM:618425
HP:0033127	Abnormality of the musculoskeletal system	10846	PDE10A	OMIM:616921
HP:0033127	Abnormality of the musculoskeletal system	10846	PDE10A	ORPHA:494526
HP:0033127	Abnormality of the musculoskeletal system	197322	ACSF3	ORPHA:289504
HP:0033127	Abnormality of the musculoskeletal system	2664	GDI1	OMIM:300849
HP:0033127	Abnormality of the musculoskeletal system	7074	TIAM1	OMIM:619908
HP:0033127	Abnormality of the musculoskeletal system	1363	CPE	OMIM:619326
HP:0033127	Abnormality of the musculoskeletal system	1757	SARDH	ORPHA:3129
HP:0033127	Abnormality of the musculoskeletal system	54658	UGT1A1	ORPHA:79234
HP:0033127	Abnormality of the musculoskeletal system	162417	NAGS	ORPHA:927
HP:0033127	Abnormality of the musculoskeletal system	79796	ALG9	ORPHA:79328
HP:0033127	Abnormality of the musculoskeletal system	78989	COLEC11	OMIM:265050
HP:0033127	Abnormality of the musculoskeletal system	55640	FLVCR2	OMIM:225790
HP:0033127	Abnormality of the musculoskeletal system	23545	ATP6V0A2	OMIM:278250
HP:0033127	Abnormality of the musculoskeletal system	2733	GLE1	OMIM:253310
HP:0033127	Abnormality of the musculoskeletal system	63924	CIDEC	ORPHA:435651
HP:0033127	Abnormality of the musculoskeletal system	272	AMPD3	ORPHA:45
HP:0033127	Abnormality of the musculoskeletal system	5230	PGK1	ORPHA:713
HP:0033127	Abnormality of the musculoskeletal system	6566	SLC16A1	OMIM:245340
HP:0033127	Abnormality of the musculoskeletal system	1594	CYP27B1	OMIM:264700
HP:0033127	Abnormality of the musculoskeletal system	7421	VDR	OMIM:277440
HP:0033127	Abnormality of the musculoskeletal system	5605	MAP2K2	ORPHA:638
HP:0033127	Abnormality of the musculoskeletal system	7148	TNXB	OMIM:606408
HP:0033127	Abnormality of the musculoskeletal system	55679	LIMS2	OMIM:616827
HP:0033127	Abnormality of the musculoskeletal system	7390	UROS	ORPHA:79277
HP:0033127	Abnormality of the musculoskeletal system	84876	ORAI1	OMIM:615883
HP:0033127	Abnormality of the musculoskeletal system	1130	LYST	OMIM:214500
HP:0033127	Abnormality of the musculoskeletal system	116228	COX20	OMIM:619054
HP:0033127	Abnormality of the musculoskeletal system	3735	KARS1	OMIM:613641
HP:0033127	Abnormality of the musculoskeletal system	57863	CADM3	OMIM:619519
HP:0033127	Abnormality of the musculoskeletal system	1337	COX6A1	OMIM:616039
HP:0033127	Abnormality of the musculoskeletal system	4771	NF2	ORPHA:637
HP:0033127	Abnormality of the musculoskeletal system	37	ACADVL	ORPHA:26793
HP:0033127	Abnormality of the musculoskeletal system	37	ACADVL	OMIM:201475
HP:0033127	Abnormality of the musculoskeletal system	3939	LDHA	ORPHA:284426
HP:0033127	Abnormality of the musculoskeletal system	10290	SPEG	ORPHA:169186
HP:0033127	Abnormality of the musculoskeletal system	10367	MICU1	OMIM:615673
HP:0033127	Abnormality of the musculoskeletal system	10367	MICU1	ORPHA:401768
HP:0033127	Abnormality of the musculoskeletal system	3748	KCNC3	ORPHA:98768
HP:0033127	Abnormality of the musculoskeletal system	119559	SFXN4	OMIM:615578
HP:0033127	Abnormality of the musculoskeletal system	64208	POPDC3	OMIM:618848
HP:0033127	Abnormality of the musculoskeletal system	3908	LAMA2	OMIM:618138
HP:0033127	Abnormality of the musculoskeletal system	2548	GAA	OMIM:232300
HP:0033127	Abnormality of the musculoskeletal system	55687	TRMU	ORPHA:254864
HP:0033127	Abnormality of the musculoskeletal system	55154	MSTO1	ORPHA:502423
HP:0033127	Abnormality of the musculoskeletal system	2027	ENO3	OMIM:612932
HP:0033127	Abnormality of the musculoskeletal system	4311	MME	OMIM:617017
HP:0033127	Abnormality of the musculoskeletal system	4311	MME	ORPHA:497764
HP:0033127	Abnormality of the musculoskeletal system	4508	MT-ATP6	ORPHA:320360
HP:0033127	Abnormality of the musculoskeletal system	3714	JAG2	OMIM:619566
HP:0033127	Abnormality of the musculoskeletal system	6652	SORD	OMIM:618912
HP:0033127	Abnormality of the musculoskeletal system	79048	SECISBP2	ORPHA:171706
HP:0033127	Abnormality of the musculoskeletal system	4547	MTTP	ORPHA:14
HP:0033127	Abnormality of the musculoskeletal system	8557	TCAP	OMIM:601954
HP:0033127	Abnormality of the musculoskeletal system	7453	WARS1	OMIM:617721
HP:0033127	Abnormality of the musculoskeletal system	55526	DHTKD1	OMIM:615025
HP:0033127	Abnormality of the musculoskeletal system	121512	FGD4	OMIM:609311
HP:0033127	Abnormality of the musculoskeletal system	23259	DDHD2	OMIM:615033
HP:0033127	Abnormality of the musculoskeletal system	8988	HSPB3	OMIM:613376
HP:0033127	Abnormality of the musculoskeletal system	2318	FLNC	ORPHA:63273
HP:0033127	Abnormality of the musculoskeletal system	64419	MTMR14	OMIM:160150
HP:0033127	Abnormality of the musculoskeletal system	7428	VHL	ORPHA:892
HP:0033127	Abnormality of the musculoskeletal system	595	CCND1	ORPHA:892
HP:0033127	Abnormality of the musculoskeletal system	11117	EMILIN1	OMIM:620080
HP:0033127	Abnormality of the musculoskeletal system	126129	CPT1C	ORPHA:444099
HP:0033127	Abnormality of the musculoskeletal system	23676	SMPX	OMIM:301075
HP:0033127	Abnormality of the musculoskeletal system	59345	GNB4	OMIM:615185
HP:0033127	Abnormality of the musculoskeletal system	80324	PUS1	OMIM:600462
HP:0033127	Abnormality of the musculoskeletal system	80324	PUS1	ORPHA:2598
HP:0033127	Abnormality of the musculoskeletal system	9997	SCO2	ORPHA:521411
HP:0033127	Abnormality of the musculoskeletal system	6444	SGCD	ORPHA:219
HP:0033127	Abnormality of the musculoskeletal system	51067	YARS2	ORPHA:2598
HP:0033127	Abnormality of the musculoskeletal system	84570	COL25A1	ORPHA:91411
HP:0033127	Abnormality of the musculoskeletal system	79776	ZFHX4	ORPHA:91411
HP:0033127	Abnormality of the musculoskeletal system	825	CAPN3	ORPHA:267
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	815	CAMK2A	OMIM:617798
HP:0033127	Abnormality of the musculoskeletal system	10381	TUBB3	ORPHA:300570
HP:0033127	Abnormality of the musculoskeletal system	2671	GFER	ORPHA:330054
HP:0033127	Abnormality of the musculoskeletal system	25914	RTTN	ORPHA:468631
HP:0033127	Abnormality of the musculoskeletal system	29968	PSAT1	ORPHA:284417
HP:0033127	Abnormality of the musculoskeletal system	56947	MFF	ORPHA:485421
HP:0033127	Abnormality of the musculoskeletal system	58497	PRUNE1	ORPHA:544469
HP:0033127	Abnormality of the musculoskeletal system	5081	PAX7	OMIM:618578
HP:0033127	Abnormality of the musculoskeletal system	23007	PLCH1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2683	B4GALT1	ORPHA:79332
HP:0033127	Abnormality of the musculoskeletal system	267010	RNU12	ORPHA:512260
HP:0033127	Abnormality of the musculoskeletal system	55958	KLHL9	ORPHA:399081
HP:0033127	Abnormality of the musculoskeletal system	3032	HADHB	ORPHA:746
HP:0033127	Abnormality of the musculoskeletal system	3030	HADHA	ORPHA:746
HP:0033127	Abnormality of the musculoskeletal system	56984	PSMG2	OMIM:619183
HP:0033127	Abnormality of the musculoskeletal system	3763	KCNJ6	OMIM:614098
HP:0033127	Abnormality of the musculoskeletal system	4576	MT-TT	OMIM:551000
HP:0033127	Abnormality of the musculoskeletal system	859	CAV3	OMIM:123320
HP:0033127	Abnormality of the musculoskeletal system	5339	PLEC	ORPHA:254361
HP:0033127	Abnormality of the musculoskeletal system	4568	MT-TL2	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	4567	MT-TL1	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	4570	MT-TN	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	4574	MT-TS1	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	203859	ANO5	ORPHA:399096
HP:0033127	Abnormality of the musculoskeletal system	60684	TRAPPC11	ORPHA:369847
HP:0033127	Abnormality of the musculoskeletal system	51099	ABHD5	ORPHA:98907
HP:0033127	Abnormality of the musculoskeletal system	57104	PNPLA2	ORPHA:98908
HP:0033127	Abnormality of the musculoskeletal system	90523	MLIP	OMIM:620138
HP:0033127	Abnormality of the musculoskeletal system	11155	LDB3	ORPHA:98912
HP:0033127	Abnormality of the musculoskeletal system	11155	LDB3	OMIM:609452
HP:0033127	Abnormality of the musculoskeletal system	4556	MT-TE	ORPHA:2596
HP:0033127	Abnormality of the musculoskeletal system	5837	PYGM	ORPHA:368
HP:0033127	Abnormality of the musculoskeletal system	100996717	NOTCH2NLC	ORPHA:98897
HP:0033127	Abnormality of the musculoskeletal system	1134	CHRNA1	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	1140	CHRNB1	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	1144	CHRND	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	1145	CHRNE	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	4593	MUSK	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	5913	RAPSN	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	375790	AGRN	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	221264	AK9	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	285489	DOK7	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	8985	PLOD3	OMIM:612394
HP:0033127	Abnormality of the musculoskeletal system	7026	NR2F2	OMIM:618901
HP:0033127	Abnormality of the musculoskeletal system	90268	OTULIN	OMIM:617099
HP:0033127	Abnormality of the musculoskeletal system	213	ALB	OMIM:616000
HP:0033127	Abnormality of the musculoskeletal system	213	ALB	ORPHA:86816
HP:0033127	Abnormality of the musculoskeletal system	208	AKT2	ORPHA:79085
HP:0033127	Abnormality of the musculoskeletal system	5424	POLD1	OMIM:615381
HP:0033127	Abnormality of the musculoskeletal system	64788	LMF1	OMIM:246650
HP:0033127	Abnormality of the musculoskeletal system	5122	PCSK1	ORPHA:71528
HP:0033127	Abnormality of the musculoskeletal system	4160	MC4R	ORPHA:71529
HP:0033127	Abnormality of the musculoskeletal system	5443	POMC	ORPHA:71526
HP:0033127	Abnormality of the musculoskeletal system	7019	TFAM	OMIM:617156
HP:0033127	Abnormality of the musculoskeletal system	10765	KDM5B	OMIM:618109
HP:0033127	Abnormality of the musculoskeletal system	10093	ARPC4	OMIM:620141
HP:0033127	Abnormality of the musculoskeletal system	26229	B3GAT3	OMIM:245600
HP:0033127	Abnormality of the musculoskeletal system	2335	FN1	ORPHA:93315
HP:0033127	Abnormality of the musculoskeletal system	51412	ACTL6B	OMIM:618470
HP:0033127	Abnormality of the musculoskeletal system	55784	MCTP2	ORPHA:1596
HP:0033127	Abnormality of the musculoskeletal system	10651	MTX2	ORPHA:90153
HP:0033127	Abnormality of the musculoskeletal system	24140	FTSJ1	OMIM:309549
HP:0033127	Abnormality of the musculoskeletal system	2475	MTOR	OMIM:616638
HP:0033127	Abnormality of the musculoskeletal system	1300	COL10A1	OMIM:156500
HP:0033127	Abnormality of the musculoskeletal system	5281	PIGF	OMIM:619356
HP:0033127	Abnormality of the musculoskeletal system	2677	GGCX	OMIM:277450
HP:0033127	Abnormality of the musculoskeletal system	415	ARSL	ORPHA:79345
HP:0033127	Abnormality of the musculoskeletal system	415	ARSL	OMIM:302950
HP:0033127	Abnormality of the musculoskeletal system	26137	ZBTB20	OMIM:259050
HP:0033127	Abnormality of the musculoskeletal system	60401	EDA2R	ORPHA:181
HP:0033127	Abnormality of the musculoskeletal system	1896	EDA	ORPHA:181
HP:0033127	Abnormality of the musculoskeletal system	4256	MGP	ORPHA:85202
HP:0033127	Abnormality of the musculoskeletal system	4256	MGP	OMIM:245150
HP:0033127	Abnormality of the musculoskeletal system	6664	SOX11	OMIM:615866
HP:0033127	Abnormality of the musculoskeletal system	865	CBFB	OMIM:620099
HP:0033127	Abnormality of the musculoskeletal system	1906	EDN1	ORPHA:137888
HP:0033127	Abnormality of the musculoskeletal system	2773	GNAI3	ORPHA:137888
HP:0033127	Abnormality of the musculoskeletal system	63932	STEEP1	OMIM:301013
HP:0033127	Abnormality of the musculoskeletal system	9653	HS2ST1	OMIM:619194
HP:0033127	Abnormality of the musculoskeletal system	9573	GDF3	OMIM:613703
HP:0033127	Abnormality of the musculoskeletal system	5396	PRRX1	OMIM:202650
HP:0033127	Abnormality of the musculoskeletal system	5396	PRRX1	ORPHA:990
HP:0033127	Abnormality of the musculoskeletal system	5015	OTX2	ORPHA:990
HP:0033127	Abnormality of the musculoskeletal system	54539	NDUFB11	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	1349	COX7B	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	3052	HCCS	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	71	ACTG1	ORPHA:2995
HP:0033127	Abnormality of the musculoskeletal system	6135	RPL11	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6138	RPL15	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6229	RPS24	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6125	RPL5	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6204	RPS10	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6224	RPS20	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6165	RPL35A	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6223	RPS19	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6223	RPS19	OMIM:105650
HP:0033127	Abnormality of the musculoskeletal system	6232	RPS27	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	11224	RPL35	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6160	RPL31	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6218	RPS17	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6201	RPS7	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6155	RPL27	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6210	RPS15A	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	90121	TSR2	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6141	RPL18	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6235	RPS29	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6234	RPS28	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	51816	ADA2	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	10992	SF3B2	OMIM:164210
HP:0033127	Abnormality of the musculoskeletal system	27152	INTU	OMIM:617926
HP:0033127	Abnormality of the musculoskeletal system	57020	VPS35L	OMIM:619135
HP:0033127	Abnormality of the musculoskeletal system	6662	SOX9	OMIM:114290
HP:0033127	Abnormality of the musculoskeletal system	3911	LAMA5	OMIM:620076
HP:0033127	Abnormality of the musculoskeletal system	6736	SRY	ORPHA:1772
HP:0033127	Abnormality of the musculoskeletal system	26224	FBXL3	OMIM:606220
HP:0033127	Abnormality of the musculoskeletal system	55612	FERMT1	ORPHA:2908
HP:0033127	Abnormality of the musculoskeletal system	5593	PRKG2	OMIM:619636
HP:0033127	Abnormality of the musculoskeletal system	4810	NHS	ORPHA:627
HP:0033127	Abnormality of the musculoskeletal system	1299	COL9A3	OMIM:600969
HP:0033127	Abnormality of the musculoskeletal system	55252	ASXL2	OMIM:617190
HP:0033127	Abnormality of the musculoskeletal system	5264	PHYH	ORPHA:773
HP:0033127	Abnormality of the musculoskeletal system	1788	DNMT3A	OMIM:618724
HP:0033127	Abnormality of the musculoskeletal system	83452	RAB33B	OMIM:615222
HP:0033127	Abnormality of the musculoskeletal system	90417	KNSTRN	OMIM:613328
HP:0033127	Abnormality of the musculoskeletal system	5293	PIK3CD	OMIM:613328
HP:0033127	Abnormality of the musculoskeletal system	64682	ANAPC1	ORPHA:221008
HP:0033127	Abnormality of the musculoskeletal system	3590	IL11RA	OMIM:614188
HP:0033127	Abnormality of the musculoskeletal system	10059	DNM1L	OMIM:614388
HP:0033127	Abnormality of the musculoskeletal system	4329	ALDH6A1	OMIM:614105
HP:0033127	Abnormality of the musculoskeletal system	84720	PIGO	OMIM:614749
HP:0033127	Abnormality of the musculoskeletal system	8085	KMT2D	OMIM:620186
HP:0033127	Abnormality of the musculoskeletal system	7319	UBE2A	OMIM:300860
HP:0033127	Abnormality of the musculoskeletal system	4212	MEIS2	OMIM:600987
HP:0033127	Abnormality of the musculoskeletal system	6878	TAF6	OMIM:617126
HP:0033127	Abnormality of the musculoskeletal system	285362	SUMF1	ORPHA:585
HP:0033127	Abnormality of the musculoskeletal system	3764	KCNJ8	ORPHA:1517
HP:0033127	Abnormality of the musculoskeletal system	60	ACTB	OMIM:243310
HP:0033127	Abnormality of the musculoskeletal system	10060	ABCC9	OMIM:239850
HP:0033127	Abnormality of the musculoskeletal system	10716	TBR1	ORPHA:1617
HP:0033127	Abnormality of the musculoskeletal system	23498	HAAO	OMIM:617660
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	OMIM:278000
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	ORPHA:75233
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	ORPHA:75234
HP:0033127	Abnormality of the musculoskeletal system	7373	COL14A1	ORPHA:79501
HP:0033127	Abnormality of the musculoskeletal system	79719	AAGAB	ORPHA:79501
HP:0033127	Abnormality of the musculoskeletal system	84617	TUBB6	OMIM:617732
HP:0033127	Abnormality of the musculoskeletal system	7068	THRB	OMIM:274300
HP:0033127	Abnormality of the musculoskeletal system	220202	ATOH7	ORPHA:91495
HP:0033127	Abnormality of the musculoskeletal system	3949	LDLR	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	3949	LDLR	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	255738	PCSK9	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	255738	PCSK9	OMIM:603776
HP:0033127	Abnormality of the musculoskeletal system	26119	LDLRAP1	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	26119	LDLRAP1	OMIM:603813
HP:0033127	Abnormality of the musculoskeletal system	338	APOB	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	64240	ABCG5	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	64240	ABCG5	OMIM:618666
HP:0033127	Abnormality of the musculoskeletal system	64241	ABCG8	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	336	APOA2	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	2053	EPHX2	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	10842	PPP1R17	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	1071	CETP	ORPHA:79506
HP:0033127	Abnormality of the musculoskeletal system	345	APOC3	ORPHA:79506
HP:0033127	Abnormality of the musculoskeletal system	7274	TTPA	OMIM:277460
HP:0033127	Abnormality of the musculoskeletal system	348	APOE	ORPHA:412
HP:0033127	Abnormality of the musculoskeletal system	335	APOA1	OMIM:618463
HP:0033127	Abnormality of the musculoskeletal system	3043	HBB	ORPHA:232
HP:0033127	Abnormality of the musculoskeletal system	84196	USP48	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	7157	TP53	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	9101	USP8	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	64072	CDH23	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	2908	NR3C1	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	3572	IL6ST	OMIM:619750
HP:0033127	Abnormality of the musculoskeletal system	8518	ELP1	ORPHA:1764
HP:0033127	Abnormality of the musculoskeletal system	3248	HPGD	ORPHA:2796
HP:0033127	Abnormality of the musculoskeletal system	6578	SLCO2A1	ORPHA:2796
HP:0033127	Abnormality of the musculoskeletal system	4914	NTRK1	ORPHA:642
HP:0033127	Abnormality of the musculoskeletal system	4125	MAN2B1	ORPHA:309282
HP:0033127	Abnormality of the musculoskeletal system	10269	ZMPSTE24	ORPHA:740
HP:0033127	Abnormality of the musculoskeletal system	1186	CLCN7	ORPHA:53
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	ORPHA:77261
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	OMIM:230800
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	ORPHA:77259
HP:0033127	Abnormality of the musculoskeletal system	80169	CTC1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	26277	TINF2	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55651	NHP2	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	79650	USB1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55135	WRAP53	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	51750	RTEL1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	4869	NPM1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7012	TERC	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55505	NOP10	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	5073	PARN	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7015	TERT	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7015	TERT	OMIM:613989
HP:0033127	Abnormality of the musculoskeletal system	1736	DKC1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7298	TYMS	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	950	SCARB2	ORPHA:77259
HP:0033127	Abnormality of the musculoskeletal system	149233	IL23R	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	6775	STAT4	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3586	IL10	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	4210	MEFV	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	1230	CCR1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	355	FAS	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3592	IL12A	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	101928376	IL12A-AS1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3106	HLA-B	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	7099	TLR4	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3459	IFNGR1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	720	C4A	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	337867	UBAC2	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	51752	ERAP1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	8302	KLRC4	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	4322	MMP13	OMIM:250400
HP:0033127	Abnormality of the musculoskeletal system	1499	CTNNB1	ORPHA:54595
HP:0033127	Abnormality of the musculoskeletal system	6496	SIX3	OMIM:157170
HP:0033127	Abnormality of the musculoskeletal system	60529	ALX4	OMIM:613451
HP:0033127	Abnormality of the musculoskeletal system	83706	FERMT3	OMIM:612840
HP:0033127	Abnormality of the musculoskeletal system	5880	RAC2	OMIM:618986
HP:0033127	Abnormality of the musculoskeletal system	9094	UNC119	OMIM:615518
HP:0033127	Abnormality of the musculoskeletal system	50615	IL21R	OMIM:615207
HP:0033127	Abnormality of the musculoskeletal system	85452	CFAP74	OMIM:620197
HP:0033127	Abnormality of the musculoskeletal system	8382	NME5	OMIM:620032
HP:0033127	Abnormality of the musculoskeletal system	84061	MAGT1	OMIM:300853
HP:0033127	Abnormality of the musculoskeletal system	10625	IVNS1ABP	OMIM:618969
HP:0033127	Abnormality of the musculoskeletal system	3551	IKBKB	OMIM:618204
HP:0033127	Abnormality of the musculoskeletal system	81704	DOCK8	OMIM:243700
HP:0033127	Abnormality of the musculoskeletal system	81704	DOCK8	ORPHA:217390
HP:0033127	Abnormality of the musculoskeletal system	721	C4B	OMIM:614379
HP:0033127	Abnormality of the musculoskeletal system	6688	SPI1	OMIM:619707
HP:0033127	Abnormality of the musculoskeletal system	2214	FCGR3A	OMIM:615707
HP:0033127	Abnormality of the musculoskeletal system	6890	TAP1	OMIM:604571
HP:0033127	Abnormality of the musculoskeletal system	6891	TAP2	OMIM:604571
HP:0033127	Abnormality of the musculoskeletal system	6892	TAPBP	OMIM:604571
HP:0033127	Abnormality of the musculoskeletal system	54440	SASH3	OMIM:301082
HP:0033127	Abnormality of the musculoskeletal system	146845	CFAP52	OMIM:619607
HP:0033127	Abnormality of the musculoskeletal system	25790	CFAP45	OMIM:619608
HP:0033127	Abnormality of the musculoskeletal system	11146	GLMN	ORPHA:83454
HP:0033127	Abnormality of the musculoskeletal system	29998	BICRA	OMIM:619325
HP:0033127	Abnormality of the musculoskeletal system	92579	G6PC3	OMIM:612541
HP:0033127	Abnormality of the musculoskeletal system	8726	EED	OMIM:617561
HP:0033127	Abnormality of the musculoskeletal system	8726	EED	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	5718	PSMD12	ORPHA:529962
HP:0033127	Abnormality of the musculoskeletal system	657	BMPR1A	ORPHA:79076
HP:0033127	Abnormality of the musculoskeletal system	79759	ZNF668	OMIM:620194
HP:0033127	Abnormality of the musculoskeletal system	4123	MAN2C1	OMIM:619775
HP:0033127	Abnormality of the musculoskeletal system	2146	EZH2	OMIM:277590
HP:0033127	Abnormality of the musculoskeletal system	2146	EZH2	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	64324	NSD1	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	23512	SUZ12	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	5587	PRKD1	OMIM:617364
HP:0033127	Abnormality of the musculoskeletal system	1497	CTNS	ORPHA:411634
HP:0033127	Abnormality of the musculoskeletal system	8294	H4C9	OMIM:619951
HP:0033127	Abnormality of the musculoskeletal system	5881	RAC3	OMIM:618577
HP:0033127	Abnormality of the musculoskeletal system	2890	GRIA1	OMIM:619927
HP:0033127	Abnormality of the musculoskeletal system	51604	PIGT	OMIM:615398
HP:0033127	Abnormality of the musculoskeletal system	158326	FREM1	OMIM:614485
HP:0033127	Abnormality of the musculoskeletal system	1024	CDK8	OMIM:618748
HP:0033127	Abnormality of the musculoskeletal system	4774	NFIA	OMIM:613735
HP:0033127	Abnormality of the musculoskeletal system	8496	PPFIBP1	OMIM:620024
HP:0033127	Abnormality of the musculoskeletal system	56098	PCDHGC4	OMIM:619880
HP:0033127	Abnormality of the musculoskeletal system	10736	SIX2	ORPHA:488437
HP:0033127	Abnormality of the musculoskeletal system	1642	DDB1	OMIM:619426
HP:0033127	Abnormality of the musculoskeletal system	91574	MTRFR	OMIM:615035
HP:0033127	Abnormality of the musculoskeletal system	959	CD40LG	OMIM:308230
HP:0033127	Abnormality of the musculoskeletal system	5456	POU3F4	ORPHA:1435
HP:0033127	Abnormality of the musculoskeletal system	55129	ANO10	ORPHA:284289
HP:0033127	Abnormality of the musculoskeletal system	219285	SAMD9L	OMIM:159550
HP:0033127	Abnormality of the musculoskeletal system	1021	CDK6	OMIM:616080
HP:0033127	Abnormality of the musculoskeletal system	163786	SASS6	OMIM:616402
HP:0033127	Abnormality of the musculoskeletal system	9918	NCAPD2	OMIM:617983
HP:0033127	Abnormality of the musculoskeletal system	55755	CDK5RAP2	OMIM:604804
HP:0033127	Abnormality of the musculoskeletal system	55262	TRAPPC14	OMIM:618351
HP:0033127	Abnormality of the musculoskeletal system	9662	CEP135	OMIM:614673
HP:0033127	Abnormality of the musculoskeletal system	27185	DISC1	ORPHA:171703
HP:0033127	Abnormality of the musculoskeletal system	8320	EOMES	ORPHA:171703
HP:0033127	Abnormality of the musculoskeletal system	57082	KNL1	OMIM:604321
HP:0033127	Abnormality of the musculoskeletal system	23511	NUP188	OMIM:618804
HP:0033127	Abnormality of the musculoskeletal system	10015	PDCD6IP	OMIM:620047
HP:0033127	Abnormality of the musculoskeletal system	80254	CEP63	OMIM:614728
HP:0033127	Abnormality of the musculoskeletal system	79648	MCPH1	OMIM:251200
HP:0033127	Abnormality of the musculoskeletal system	4905	NSF	OMIM:619340
HP:0033127	Abnormality of the musculoskeletal system	79577	CDC73	ORPHA:143
HP:0033127	Abnormality of the musculoskeletal system	79577	CDC73	ORPHA:99880
HP:0033127	Abnormality of the musculoskeletal system	6347	CCL2	OMIM:182940
HP:0033127	Abnormality of the musculoskeletal system	6862	TBXT	OMIM:182940
HP:0033127	Abnormality of the musculoskeletal system	6452	SH3BP2	ORPHA:184
HP:0033127	Abnormality of the musculoskeletal system	2165	F13B	ORPHA:331
HP:0033127	Abnormality of the musculoskeletal system	2162	F13A1	ORPHA:331
HP:0033127	Abnormality of the musculoskeletal system	5054	SERPINE1	ORPHA:465
HP:0033127	Abnormality of the musculoskeletal system	2159	F10	OMIM:227600
HP:0033127	Abnormality of the musculoskeletal system	2159	F10	ORPHA:328
HP:0033127	Abnormality of the musculoskeletal system	2155	F7	OMIM:227500
HP:0033127	Abnormality of the musculoskeletal system	2147	F2	ORPHA:325
HP:0033127	Abnormality of the musculoskeletal system	2997	GYS1	OMIM:611556
HP:0033127	Abnormality of the musculoskeletal system	96459	FNIP1	OMIM:619705
HP:0033127	Abnormality of the musculoskeletal system	84868	HAVCR2	OMIM:618398
HP:0033127	Abnormality of the musculoskeletal system	84868	HAVCR2	ORPHA:86884
HP:0033127	Abnormality of the musculoskeletal system	3932	LCK	OMIM:615758
HP:0033127	Abnormality of the musculoskeletal system	6840	SVIL	OMIM:619040
HP:0033127	Abnormality of the musculoskeletal system	25792	CIZ1	ORPHA:420492
HP:0033127	Abnormality of the musculoskeletal system	146862	UNC45B	OMIM:619178
HP:0033127	Abnormality of the musculoskeletal system	10555	AGPAT2	OMIM:608594
HP:0033127	Abnormality of the musculoskeletal system	6399	TRAPPC2	ORPHA:93284
HP:0033127	Abnormality of the musculoskeletal system	5696	PSMB8	OMIM:256040
HP:0033127	Abnormality of the musculoskeletal system	5692	PSMB4	OMIM:617591
HP:0033127	Abnormality of the musculoskeletal system	5698	PSMB9	OMIM:617591
HP:0033127	Abnormality of the musculoskeletal system	4952	OCRL	OMIM:309000
HP:0033127	Abnormality of the musculoskeletal system	7490	WT1	OMIM:194080
HP:0033127	Abnormality of the musculoskeletal system	8425	LTBP4	OMIM:613177
HP:0033127	Abnormality of the musculoskeletal system	6231	RPS26	OMIM:613309
HP:0033127	Abnormality of the musculoskeletal system	6598	SMARCB1	OMIM:614608
HP:0033127	Abnormality of the musculoskeletal system	64127	NOD2	OMIM:186580
HP:0033127	Abnormality of the musculoskeletal system	3852	KRT5	ORPHA:79400
HP:0033127	Abnormality of the musculoskeletal system	3861	KRT14	ORPHA:79400
HP:0033127	Abnormality of the musculoskeletal system	22943	DKK1	ORPHA:268882
HP:0033127	Abnormality of the musculoskeletal system	8398	PLA2G6	ORPHA:199351
HP:0033127	Abnormality of the musculoskeletal system	11043	MID2	OMIM:300928
HP:0033127	Abnormality of the musculoskeletal system	3872	KRT17	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	3853	KRT6A	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	3854	KRT6B	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	51256	TBC1D7	OMIM:248000
HP:0033127	Abnormality of the musculoskeletal system	55623	THUMPD1	OMIM:619989
HP:0033127	Abnormality of the musculoskeletal system	162514	TRPV3	ORPHA:659
HP:0033127	Abnormality of the musculoskeletal system	64065	PERP	ORPHA:659
HP:0033127	Abnormality of the musculoskeletal system	64132	XYLT2	OMIM:605822
HP:0033127	Abnormality of the musculoskeletal system	10312	TCIRG1	OMIM:259700
HP:0033127	Abnormality of the musculoskeletal system	8792	TNFRSF11A	OMIM:612301
HP:0033127	Abnormality of the musculoskeletal system	221496	LEMD2	OMIM:619322
HP:0033127	Abnormality of the musculoskeletal system	10157	AASS	ORPHA:2203
HP:0033127	Abnormality of the musculoskeletal system	1277	COL1A1	OMIM:619115
HP:0033127	Abnormality of the musculoskeletal system	1290	COL5A2	OMIM:130010
HP:0033127	Abnormality of the musculoskeletal system	2688	GH1	OMIM:612781
HP:0033127	Abnormality of the musculoskeletal system	128	ADH5	OMIM:619151
HP:0033127	Abnormality of the musculoskeletal system	442721	LMOD2	OMIM:619897
HP:0033127	Abnormality of the musculoskeletal system	8651	SOCS1	OMIM:619375
HP:0033127	Abnormality of the musculoskeletal system	3373	HYAL1	OMIM:601492
HP:0033127	Abnormality of the musculoskeletal system	311	ANXA11	OMIM:619733
HP:0033127	Abnormality of the musculoskeletal system	6606	SMN1	OMIM:271150
HP:0033127	Abnormality of the musculoskeletal system	55791	LRIF1	OMIM:619477
HP:0033127	Abnormality of the musculoskeletal system	8815	BANF1	OMIM:614008
HP:0033127	Abnormality of the musculoskeletal system	129685	TAF8	OMIM:619972
HP:0033127	Abnormality of the musculoskeletal system	8738	CRADD	OMIM:614499
HP:0033127	Abnormality of the musculoskeletal system	79228	THOC6	ORPHA:363444
HP:0033127	Abnormality of the musculoskeletal system	55503	TRPV6	OMIM:618188
HP:0033127	Abnormality of the musculoskeletal system	23102	TBC1D2B	ORPHA:397973
HP:0033127	Abnormality of the musculoskeletal system	3835	KIF22	ORPHA:93360
HP:0033127	Abnormality of the musculoskeletal system	9371	KIF3B	OMIM:618955
HP:0033127	Abnormality of the musculoskeletal system	286204	CRB2	OMIM:219730
HP:0033127	Abnormality of the musculoskeletal system	79827	CLMP	ORPHA:2301
HP:0033127	Abnormality of the musculoskeletal system	3570	IL6R	OMIM:618944
HP:0033127	Abnormality of the musculoskeletal system	5336	PLCG2	OMIM:614878
HP:0033127	Abnormality of the musculoskeletal system	10095	ARPC1B	OMIM:617718
HP:0033127	Abnormality of the musculoskeletal system	7424	VEGFC	OMIM:615907
HP:0033127	Abnormality of the musculoskeletal system	3071	NCKAP1L	OMIM:618982
HP:0033127	Abnormality of the musculoskeletal system	729238	SFTPA2	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	729238	SFTPA2	OMIM:178500
HP:0033127	Abnormality of the musculoskeletal system	727897	MUC5B	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	727897	MUC5B	OMIM:178500
HP:0033127	Abnormality of the musculoskeletal system	10144	FAM13A	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	91039	DPP9	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	440275	EIF2AK4	ORPHA:199241
HP:0033127	Abnormality of the musculoskeletal system	59067	IL21	OMIM:615767
HP:0033127	Abnormality of the musculoskeletal system	79651	RHBDF2	ORPHA:2198
HP:0033127	Abnormality of the musculoskeletal system	7092	TLL1	ORPHA:99106
HP:0033127	Abnormality of the musculoskeletal system	57459	GATAD2B	OMIM:615074
HP:0033127	Abnormality of the musculoskeletal system	57459	GATAD2B	ORPHA:363686
HP:0033127	Abnormality of the musculoskeletal system	1281	COL3A1	OMIM:618343
HP:0033127	Abnormality of the musculoskeletal system	203068	TUBB	OMIM:156610
HP:0033127	Abnormality of the musculoskeletal system	79971	WLS	OMIM:619648
HP:0033127	Abnormality of the musculoskeletal system	5373	PMM2	ORPHA:79318
HP:0033127	Abnormality of the musculoskeletal system	7528	YY1	OMIM:617557
HP:0033127	Abnormality of the musculoskeletal system	22861	NLRP1	OMIM:618803
HP:0033127	Abnormality of the musculoskeletal system	5286	PIK3C2A	OMIM:618440
HP:0033127	Abnormality of the musculoskeletal system	4041	LRP5	ORPHA:2790
HP:0033127	Abnormality of the musculoskeletal system	4041	LRP5	OMIM:144750
HP:0033127	Abnormality of the musculoskeletal system	79705	LRRK1	OMIM:615198
HP:0033127	Abnormality of the musculoskeletal system	23592	LEMD3	ORPHA:166119
HP:0033127	Abnormality of the musculoskeletal system	1235	CCR6	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	1235	CCR6	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	1490	CCN2	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	1490	CCN2	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	3663	IRF5	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	3663	IRF5	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	857	CAV1	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	857	CAV1	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	3123	HLA-DRB1	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	3123	HLA-DRB1	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	79932	KIAA0319L	ORPHA:220402
HP:0033127	Abnormality of the musculoskeletal system	9842	PLEKHM1	OMIM:611497
HP:0033127	Abnormality of the musculoskeletal system	3105	HLA-A	ORPHA:179
HP:0033127	Abnormality of the musculoskeletal system	4487	MSX1	ORPHA:141291
HP:0033127	Abnormality of the musculoskeletal system	404672	GTF2H5	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	833	CARS1	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2068	ERCC2	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	7737	RNF113A	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	6897	TARS1	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2071	ERCC3	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2961	GTF2E2	ORPHA:33364
HP:0033129	Abnormal shoulder physiology	1311	COMP	OMIM:177170
HP:0033129	Abnormal shoulder physiology	79158	GNPTAB	ORPHA:576
HP:0033129	Abnormal shoulder physiology	4000	LMNA	ORPHA:740
HP:0033129	Abnormal shoulder physiology	10269	ZMPSTE24	ORPHA:740
HP:0033129	Abnormal shoulder physiology	9401	RECQL4	OMIM:218600
HP:0033129	Abnormal shoulder physiology	55906	ZC4H2	OMIM:301041
HP:0033129	Abnormal shoulder physiology	6399	TRAPPC2	ORPHA:93284
HP:0033129	Abnormal shoulder physiology	4625	MYH7	ORPHA:437572
HP:0033129	Abnormal shoulder physiology	9427	ECEL1	OMIM:615065
HP:0033129	Abnormal shoulder physiology	91461	PKDCC	OMIM:618821
HP:0033129	Abnormal shoulder physiology	3081	HGD	OMIM:203500
HP:0033129	Abnormal shoulder physiology	6442	SGCA	ORPHA:62
HP:0033129	Abnormal shoulder physiology	10020	GNE	ORPHA:602
HP:0033129	Abnormal shoulder physiology	2200	FBN1	OMIM:184900
HP:0033129	Abnormal shoulder physiology	7169	TPM2	OMIM:108120
HP:0033128	Delayed ability to crawl	5934	RBL2	OMIM:619690
HP:0033128	Delayed ability to crawl	80055	PGAP1	OMIM:615802
HP:0033128	Delayed ability to crawl	3097	HIVEP2	OMIM:616977
HP:0033128	Delayed ability to crawl	4191	MDH2	OMIM:617339
HP:0033128	Delayed ability to crawl	64432	MRPS25	OMIM:619025
HP:0033128	Delayed ability to crawl	1499	CTNNB1	OMIM:615075
HP:0033128	Delayed ability to crawl	6651	SON	OMIM:617140
HP:0033128	Delayed ability to crawl	10659	CELF2	OMIM:619561
HP:0033130	Abnormal renal echogenicity	5972	REN	OMIM:613092
HP:0033130	Abnormal renal echogenicity	79989	IFT56	OMIM:619534
HP:0033130	Abnormal renal echogenicity	5314	PKHD1	OMIM:263200
HP:0033130	Abnormal renal echogenicity	57545	CC2D2A	OMIM:619111
HP:0033130	Abnormal renal echogenicity	54914	FOCAD	OMIM:619991
HP:0033130	Abnormal renal echogenicity	10463	SLC30A9	OMIM:617595
HP:0033130	Abnormal renal echogenicity	7468	NSD2	OMIM:619695
HP:0033130	Abnormal renal echogenicity	199221	DZIP1L	OMIM:617610
HP:0033130	Abnormal renal echogenicity	79848	CSPP1	OMIM:615636
HP:0033130	Abnormal renal echogenicity	79848	CSPP1	ORPHA:397715
HP:0033130	Abnormal renal echogenicity	9928	KIF14	OMIM:617914
HP:0033130	Abnormal renal echogenicity	63929	XPNPEP3	OMIM:613159
HP:0033130	Abnormal renal echogenicity	10015	PDCD6IP	OMIM:620047
HP:0033130	Abnormal renal echogenicity	3913	LAMB2	OMIM:609049
HP:0033130	Abnormal renal echogenicity	84992	PIGY	OMIM:616809
HP:0033130	Abnormal renal echogenicity	286204	CRB2	OMIM:219730
HP:0033130	Abnormal renal echogenicity	81	ACTN4	OMIM:603278
HP:0033130	Abnormal renal echogenicity	9786	KIAA0586	ORPHA:397715
HP:0033130	Abnormal renal echogenicity	80114	BICC1	OMIM:601331
HP:0033130	Abnormal renal echogenicity	100147744	RNU7-1	OMIM:619487
HP:0033130	Abnormal renal echogenicity	5087	PBX1	OMIM:617641
HP:0033130	Abnormal renal echogenicity	112752	IFT43	OMIM:617866
HP:0033130	Abnormal renal echogenicity	57511	COG6	OMIM:614576
HP:0033130	Abnormal renal echogenicity	7289	TULP3	OMIM:619902
HP:0033130	Abnormal renal echogenicity	22858	CILK1	OMIM:612651
HP:0033130	Abnormal renal echogenicity	51473	DCDC2	ORPHA:84081
HP:0033130	Abnormal renal echogenicity	51473	DCDC2	OMIM:616217
HP:0033130	Abnormal renal echogenicity	91147	TMEM67	ORPHA:84081
HP:0033130	Abnormal renal echogenicity	79867	TCTN2	OMIM:613885
HP:0033130	Abnormal renal echogenicity	9096	TBX18	OMIM:143400
HP:0033130	Abnormal renal echogenicity	54938	SARS2	OMIM:613845
HP:0033130	Abnormal renal echogenicity	27130	INVS	OMIM:602088
HP:0033130	Abnormal renal echogenicity	93649	MYOCD	OMIM:618719
HP:0033130	Abnormal renal echogenicity	116085	SLC22A12	OMIM:220150
HP:0033130	Abnormal renal echogenicity	23500	DAAM2	OMIM:619263
HP:0033130	Abnormal renal echogenicity	4629	MYH11	OMIM:619351
HP:0007285	Facial palsy secondary to cranial hyperostosis	50964	SOST	OMIM:269500
HP:0007286	Horizontal jerk nystagmus	6712	SPTBN2	OMIM:600224
HP:0007286	Horizontal jerk nystagmus	4361	MRE11	OMIM:604391
HP:0007286	Horizontal jerk nystagmus	221927	BRAT1	OMIM:618056
HP:0033132	Renal cortical hyperechogenicity	116085	SLC22A12	OMIM:220150
HP:0033132	Renal cortical hyperechogenicity	23500	DAAM2	OMIM:619263
HP:0033132	Renal cortical hyperechogenicity	4629	MYH11	OMIM:619351
HP:0033134	Abdominal adhesions	404672	GTF2H5	OMIM:616395
HP:0033137	Abnormal pulmonary alveolar system morphology	10568	SLC34A2	OMIM:265100
HP:0033137	Abnormal pulmonary alveolar system morphology	2294	FOXF1	OMIM:265380
HP:0033137	Abnormal pulmonary alveolar system morphology	64220	STRA6	OMIM:601186
HP:0033137	Abnormal pulmonary alveolar system morphology	6440	SFTPC	OMIM:610913
HP:0033137	Abnormal pulmonary alveolar system morphology	60558	GUF1	OMIM:617065
HP:0033139	Elevated circulating uracil concentration	5009	OTC	OMIM:311250
HP:0033139	Elevated circulating uracil concentration	1807	DPYS	OMIM:222748
HP:0033140	Blake's pouch cyst	8496	PPFIBP1	OMIM:620024
HP:0007293	Anterior sacral meningocele	81839	VANGL1	OMIM:600145
HP:0007293	Anterior sacral meningocele	3110	MNX1	OMIM:176450
HP:0007351	Upper limb postural tremor	10382	TUBB4A	ORPHA:98805
HP:0007351	Upper limb postural tremor	8398	PLA2G6	OMIM:612953
HP:0007351	Upper limb postural tremor	1293	COL6A3	ORPHA:464440
HP:0007351	Upper limb postural tremor	3708	ITPR1	ORPHA:98769
HP:0007351	Upper limb postural tremor	8913	CACNA1G	ORPHA:458803
HP:0007351	Upper limb postural tremor	79587	CARS2	ORPHA:477774
HP:0007351	Upper limb postural tremor	4001	LMNB1	ORPHA:99027
HP:0007351	Upper limb postural tremor	63982	ANO3	ORPHA:420485
HP:0007351	Upper limb postural tremor	4359	MPZ	OMIM:180800
HP:0007351	Upper limb postural tremor	5376	PMP22	OMIM:180800
HP:0007299	Dysfunction of lateral corticospinal tracts	5080	PAX6	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	627	BDNF	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	7490	WT1	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	5832	ALDH18A1	OMIM:601162
HP:0033141	Severe SARS-CoV-2 infection	51284	TLR7	OMIM:301051
HP:0033142	Long nasal bridge	7169	TPM2	OMIM:108120
HP:0033142	Long nasal bridge	2186	BPTF	OMIM:617755
HP:0033142	Long nasal bridge	5700	PSMC1	OMIM:620071
HP:0033142	Long nasal bridge	10801	SEPTIN9	OMIM:162100
HP:0033142	Long nasal bridge	4621	MYH3	OMIM:178110
HP:0033144	Abnormal circulating ceruloplasmin concentration	1356	CP	ORPHA:48818
HP:0033144	Abnormal circulating ceruloplasmin concentration	538	ATP7A	OMIM:309400
HP:0033144	Abnormal circulating ceruloplasmin concentration	538	ATP7A	OMIM:304150
HP:0033144	Abnormal circulating ceruloplasmin concentration	22796	COG2	ORPHA:435934
HP:0033144	Abnormal circulating ceruloplasmin concentration	22796	COG2	OMIM:617395
HP:0033144	Abnormal circulating ceruloplasmin concentration	147007	TMEM199	OMIM:616829
HP:0033144	Abnormal circulating ceruloplasmin concentration	84317	CCDC115	OMIM:616828
HP:0033144	Abnormal circulating ceruloplasmin concentration	540	ATP7B	OMIM:277900
HP:0033144	Abnormal circulating ceruloplasmin concentration	162	AP1B1	ORPHA:171851
HP:0033144	Abnormal circulating ceruloplasmin concentration	162	AP1B1	OMIM:242150
HP:0033144	Abnormal circulating ceruloplasmin concentration	1174	AP1S1	ORPHA:171851
HP:0033144	Abnormal circulating ceruloplasmin concentration	9197	SLC33A1	OMIM:614482
HP:0033144	Abnormal circulating ceruloplasmin concentration	2495	FTH1	OMIM:615517
HP:0033146	Elevated circulating methylsuccinic acid concentration	2222	FDFT1	OMIM:618156
HP:0033149	Intrahepatic bile duct dilatation	9968	MED12	OMIM:301068
HP:0033149	Intrahepatic bile duct dilatation	91147	TMEM67	OMIM:216360
HP:0033149	Intrahepatic bile duct dilatation	57728	WDR19	OMIM:614377
HP:0033149	Intrahepatic bile duct dilatation	57728	WDR19	OMIM:616307
HP:0033149	Intrahepatic bile duct dilatation	9371	KIF3B	OMIM:618955
HP:0033149	Intrahepatic bile duct dilatation	79989	IFT56	OMIM:619534
HP:0033151	Abnormal pharynx morphology	2697	GJA1	OMIM:218400
HP:0033151	Abnormal pharynx morphology	6469	SHH	OMIM:147250
HP:0033151	Abnormal pharynx morphology	4281	MID1	OMIM:300000
HP:0033151	Abnormal pharynx morphology	26040	SETBP1	OMIM:269150
HP:0033151	Abnormal pharynx morphology	57167	SALL4	OMIM:607323
HP:0033151	Abnormal pharynx morphology	8626	TP63	OMIM:604292
HP:0033151	Abnormal pharynx morphology	100	ADA	ORPHA:277
HP:0033151	Abnormal pharynx morphology	83483	PLVAP	OMIM:618183
HP:0033151	Abnormal pharynx morphology	6448	SGSH	OMIM:252900
HP:0033151	Abnormal pharynx morphology	23394	ADNP	ORPHA:404448
HP:0033151	Abnormal pharynx morphology	4860	PNP	OMIM:613179
HP:0033151	Abnormal pharynx morphology	3932	LCK	OMIM:615758
HP:0033151	Abnormal pharynx morphology	411	ARSB	OMIM:253200
HP:0033151	Abnormal pharynx morphology	114803	MYSM1	ORPHA:508542
HP:0033151	Abnormal pharynx morphology	3718	JAK3	OMIM:600802
HP:0033151	Abnormal pharynx morphology	6809	STX3	OMIM:619446
HP:0033151	Abnormal pharynx morphology	11151	CORO1A	OMIM:615401
HP:0033151	Abnormal pharynx morphology	57465	TBC1D24	ORPHA:352596
HP:0033151	Abnormal pharynx morphology	10525	HYOU1	OMIM:233600
HP:0033151	Abnormal pharynx morphology	3952	LEP	ORPHA:66628
HP:0033151	Abnormal pharynx morphology	3952	LEP	OMIM:614962
HP:0033151	Abnormal pharynx morphology	6662	SOX9	OMIM:114290
HP:0033151	Abnormal pharynx morphology	427	ASAH1	ORPHA:333
HP:0033151	Abnormal pharynx morphology	25839	COG4	ORPHA:263501
HP:0033151	Abnormal pharynx morphology	4784	NFIX	OMIM:602535
HP:0033151	Abnormal pharynx morphology	1493	CTLA4	OMIM:616100
HP:0033151	Abnormal pharynx morphology	6597	SMARCA4	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6598	SMARCB1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6659	SOX4	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	8289	ARID1A	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	5977	DPF2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6601	SMARCC2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6602	SMARCD1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	57492	ARID1B	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	196528	ARID2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6605	SMARCE1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6664	SOX11	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	92579	G6PC3	OMIM:612541
HP:0033151	Abnormal pharynx morphology	5631	PRPS1	ORPHA:1187
HP:0033151	Abnormal pharynx morphology	5631	PRPS1	OMIM:301835
HP:0033151	Abnormal pharynx morphology	5426	POLE	OMIM:615139
HP:0033151	Abnormal pharynx morphology	3953	LEPR	OMIM:614963
HP:0033151	Abnormal pharynx morphology	3953	LEPR	ORPHA:179494
HP:0033151	Abnormal pharynx morphology	8456	FOXN1	OMIM:618806
HP:0033151	Abnormal pharynx morphology	146206	CARMIL2	OMIM:618131
HP:0033151	Abnormal pharynx morphology	2720	GLB1	OMIM:253010
HP:0033151	Abnormal pharynx morphology	6772	STAT1	ORPHA:391487
HP:0033151	Abnormal pharynx morphology	10043	TOM1	ORPHA:391487
HP:0033151	Abnormal pharynx morphology	3572	IL6ST	OMIM:619752
HP:0033151	Abnormal pharynx morphology	3852	KRT5	OMIM:619599
HP:0033151	Abnormal pharynx morphology	1387	CREBBP	OMIM:180849
HP:0033151	Abnormal pharynx morphology	1387	CREBBP	OMIM:618332
HP:0033151	Abnormal pharynx morphology	2033	EP300	OMIM:180849
HP:0033151	Abnormal pharynx morphology	2033	EP300	OMIM:618333
HP:0033151	Abnormal pharynx morphology	4261	CIITA	OMIM:209920
HP:0033151	Abnormal pharynx morphology	5994	RFXAP	OMIM:209920
HP:0033151	Abnormal pharynx morphology	5993	RFX5	OMIM:209920
HP:0033151	Abnormal pharynx morphology	8625	RFXANK	OMIM:209920
HP:0033151	Abnormal pharynx morphology	2588	GALNS	OMIM:253000
HP:0033151	Abnormal pharynx morphology	6774	STAT3	OMIM:615952
HP:0033151	Abnormal pharynx morphology	5295	PIK3R1	OMIM:616005
HP:0033151	Abnormal pharynx morphology	9841	ZBTB24	OMIM:614069
HP:0033151	Abnormal pharynx morphology	920	CD4	OMIM:619238
HP:0033151	Abnormal pharynx morphology	3570	IL6R	OMIM:618944
HP:0033151	Abnormal pharynx morphology	3575	IL7R	ORPHA:169154
HP:0033151	Abnormal pharynx morphology	51360	MBTPS2	OMIM:308205
HP:0033151	Abnormal pharynx morphology	27086	FOXP1	ORPHA:391372
HP:0033151	Abnormal pharynx morphology	8481	OFD1	OMIM:300209
HP:0033151	Abnormal pharynx morphology	5971	RELB	OMIM:617585
HP:0033151	Abnormal pharynx morphology	79803	HPS6	OMIM:614075
HP:0033151	Abnormal pharynx morphology	641	BLM	OMIM:210900
HP:0033151	Abnormal pharynx morphology	5340	PLG	OMIM:217090
HP:0033151	Abnormal pharynx morphology	2799	GNS	OMIM:252940
HP:0033151	Abnormal pharynx morphology	8242	KDM5C	OMIM:300534
HP:0033151	Abnormal pharynx morphology	23247	KATNIP	OMIM:616784
HP:0033151	Abnormal pharynx morphology	2990	GUSB	OMIM:253220
HP:0033151	Abnormal pharynx morphology	138050	HGSNAT	OMIM:252930
HP:0033151	Abnormal pharynx morphology	3514	IGKC	ORPHA:183675
HP:0033151	Abnormal pharynx morphology	3501	IGHG2	ORPHA:183675
HP:0033151	Abnormal pharynx morphology	2542	SLC37A4	OMIM:232240
HP:0033151	Abnormal pharynx morphology	55023	PHIP	ORPHA:589905
HP:0033151	Abnormal pharynx morphology	2302	FOXJ1	OMIM:618699
HP:0033151	Abnormal pharynx morphology	7388	UQCRH	OMIM:620137
HP:0033151	Abnormal pharynx morphology	9138	ARHGEF1	OMIM:618459
HP:0033151	Abnormal pharynx morphology	4669	NAGLU	OMIM:252920
HP:0033151	Abnormal pharynx morphology	54808	DYM	ORPHA:239
HP:0033151	Abnormal pharynx morphology	27019	DNAI1	OMIM:244400
HP:0033151	Abnormal pharynx morphology	374407	DNAJB13	OMIM:617091
HP:0033151	Abnormal pharynx morphology	6595	SMARCA2	OMIM:619293
HP:0033151	Abnormal pharynx morphology	4791	NFKB2	ORPHA:293978
HP:0033151	Abnormal pharynx morphology	4791	NFKB2	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	23495	TNFRSF13B	OMIM:240500
HP:0033151	Abnormal pharynx morphology	23495	TNFRSF13B	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	115650	TNFRSF13C	OMIM:240500
HP:0033151	Abnormal pharynx morphology	115650	TNFRSF13C	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	1380	CR2	OMIM:240500
HP:0033151	Abnormal pharynx morphology	1380	CR2	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	29851	ICOS	OMIM:240500
HP:0033151	Abnormal pharynx morphology	29851	ICOS	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	29851	ICOS	OMIM:607594
HP:0033151	Abnormal pharynx morphology	930	CD19	OMIM:240500
HP:0033151	Abnormal pharynx morphology	930	CD19	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	84061	MAGT1	OMIM:300853
HP:0033151	Abnormal pharynx morphology	4256	MGP	OMIM:245150
HP:0033151	Abnormal pharynx morphology	6103	RPGR	OMIM:300455
HP:0033151	Abnormal pharynx morphology	123872	DNAAF1	OMIM:613193
HP:0033151	Abnormal pharynx morphology	4683	NBN	OMIM:251260
HP:0033151	Abnormal pharynx morphology	2622	GAS8	OMIM:616726
HP:0033151	Abnormal pharynx morphology	23765	IL17RA	OMIM:613953
HP:0033151	Abnormal pharynx morphology	3588	IL10RB	OMIM:612567
HP:0033151	Abnormal pharynx morphology	6890	TAP1	OMIM:604571
HP:0033151	Abnormal pharynx morphology	6891	TAP2	OMIM:604571
HP:0033151	Abnormal pharynx morphology	6892	TAPBP	OMIM:604571
HP:0033151	Abnormal pharynx morphology	3561	IL2RG	OMIM:312863
HP:0033151	Abnormal pharynx morphology	974	CD79B	OMIM:612692
HP:0033151	Abnormal pharynx morphology	472	ATM	OMIM:208900
HP:0033151	Abnormal pharynx morphology	973	CD79A	OMIM:613501
HP:0033151	Abnormal pharynx morphology	4790	NFKB1	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	8742	TNFSF12	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	5580	PRKCD	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	931	MS4A1	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	975	CD81	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	359948	IRF2BP2	ORPHA:1572
HP:0033151	Abnormal pharynx morphology	6901	TAFAZZIN	OMIM:302060
HP:0033151	Abnormal pharynx morphology	79158	GNPTAB	OMIM:252500
HP:0033151	Abnormal pharynx morphology	6949	TCOF1	OMIM:154500
HP:0033151	Abnormal pharynx morphology	139212	DNAAF6	OMIM:300991
HP:0033151	Abnormal pharynx morphology	7840	ALMS1	ORPHA:64
HP:0033151	Abnormal pharynx morphology	30011	SH3KBP1	OMIM:300310
HP:0033151	Abnormal pharynx morphology	7454	WAS	OMIM:301000
HP:0033151	Abnormal pharynx morphology	695	BTK	OMIM:300755
HP:0033151	Abnormal pharynx morphology	152110	NEK10	OMIM:618781
HP:0033151	Abnormal pharynx morphology	27148	STK36	OMIM:619436
HP:0033151	Abnormal pharynx morphology	5880	RAC2	OMIM:618986
HP:0033151	Abnormal pharynx morphology	64446	DNAI2	OMIM:612444
HP:0033151	Abnormal pharynx morphology	987	LRBA	OMIM:614700
HP:0033151	Abnormal pharynx morphology	3426	CFI	OMIM:610984
HP:0033151	Abnormal pharynx morphology	54440	SASH3	OMIM:301082
HP:0033151	Abnormal pharynx morphology	345895	RSPH4A	OMIM:612649
HP:0033151	Abnormal pharynx morphology	54499	TMCO1	OMIM:213980
HP:0033151	Abnormal pharynx morphology	9094	UNC119	OMIM:615518
HP:0033151	Abnormal pharynx morphology	79650	USB1	OMIM:604173
HP:0033151	Abnormal pharynx morphology	5293	PIK3CD	OMIM:619281
HP:0033151	Abnormal pharynx morphology	3507	IGHM	OMIM:601495
HP:0033151	Abnormal pharynx morphology	54768	HYDIN	OMIM:608647
HP:0033151	Abnormal pharynx morphology	89765	RSPH1	OMIM:615481
HP:0033151	Abnormal pharynx morphology	161582	DNAAF4	OMIM:615482
HP:0033151	Abnormal pharynx morphology	1289	COL5A1	OMIM:130000
HP:0033151	Abnormal pharynx morphology	6813	STXBP2	OMIM:613101
HP:0033151	Abnormal pharynx morphology	51816	ADA2	OMIM:615688
HP:0033151	Abnormal pharynx morphology	54919	DNAAF5	OMIM:614874
HP:0033151	Abnormal pharynx morphology	51364	ZMYND10	OMIM:615444
HP:0033151	Abnormal pharynx morphology	50615	IL21R	OMIM:615207
HP:0033151	Abnormal pharynx morphology	1767	DNAH5	OMIM:608644
HP:0033151	Abnormal pharynx morphology	85452	CFAP74	OMIM:620197
HP:0033151	Abnormal pharynx morphology	8382	NME5	OMIM:620032
HP:0033151	Abnormal pharynx morphology	84905	ZNF341	OMIM:618282
HP:0033151	Abnormal pharynx morphology	54	ACP5	OMIM:607944
HP:0033151	Abnormal pharynx morphology	1290	COL5A2	OMIM:130010
HP:0033151	Abnormal pharynx morphology	55130	ODAD2	OMIM:615451
HP:0033151	Abnormal pharynx morphology	10625	IVNS1ABP	OMIM:618969
HP:0033151	Abnormal pharynx morphology	4194	MDM4	OMIM:618849
HP:0033151	Abnormal pharynx morphology	3551	IKBKB	OMIM:618204
HP:0033151	Abnormal pharynx morphology	246176	GAS2L2	OMIM:618449
HP:0033151	Abnormal pharynx morphology	6899	TBX1	OMIM:188400
HP:0033151	Abnormal pharynx morphology	81704	DOCK8	OMIM:243700
HP:0033151	Abnormal pharynx morphology	81704	DOCK8	ORPHA:217390
HP:0033151	Abnormal pharynx morphology	345643	MCIDAS	OMIM:618695
HP:0033151	Abnormal pharynx morphology	93233	ODAD1	OMIM:615067
HP:0033151	Abnormal pharynx morphology	56683	CFAP298	OMIM:615500
HP:0033151	Abnormal pharynx morphology	721	C4B	OMIM:614379
HP:0033151	Abnormal pharynx morphology	4689	NCF4	OMIM:613960
HP:0033151	Abnormal pharynx morphology	6688	SPI1	OMIM:619707
HP:0033151	Abnormal pharynx morphology	85478	CCDC65	OMIM:615504
HP:0033151	Abnormal pharynx morphology	6674	SPAG1	OMIM:615505
HP:0033151	Abnormal pharynx morphology	51314	NME8	OMIM:610852
HP:0033151	Abnormal pharynx morphology	5696	PSMB8	OMIM:256040
HP:0033151	Abnormal pharynx morphology	2214	FCGR3A	OMIM:615707
HP:0033151	Abnormal pharynx morphology	165918	RNF168	ORPHA:420741
HP:0033151	Abnormal pharynx morphology	23639	DNAAF11	OMIM:614935
HP:0033151	Abnormal pharynx morphology	55172	DNAAF2	OMIM:612518
HP:0033151	Abnormal pharynx morphology	7512	XPNPEP2	ORPHA:100057
HP:0033151	Abnormal pharynx morphology	710	SERPING1	ORPHA:100050
HP:0033151	Abnormal pharynx morphology	710	SERPING1	OMIM:106100
HP:0033151	Abnormal pharynx morphology	2161	F12	OMIM:610618
HP:0033151	Abnormal pharynx morphology	6794	STK11	ORPHA:2869
HP:0033151	Abnormal pharynx morphology	10312	TCIRG1	ORPHA:486
HP:0033151	Abnormal pharynx morphology	1991	ELANE	ORPHA:486
HP:0033151	Abnormal pharynx morphology	1991	ELANE	ORPHA:2686
HP:0033151	Abnormal pharynx morphology	2672	GFI1	ORPHA:486
HP:0033151	Abnormal pharynx morphology	6729	SRP54	ORPHA:486
HP:0033151	Abnormal pharynx morphology	81570	CLPB	ORPHA:486
HP:0033151	Abnormal pharynx morphology	3115	HLA-DPB1	ORPHA:133
HP:0033151	Abnormal pharynx morphology	7852	CXCR4	ORPHA:51636
HP:0033151	Abnormal pharynx morphology	64135	IFIH1	OMIM:619773
HP:0033151	Abnormal pharynx morphology	89970	RSPRY1	ORPHA:457395
HP:0033151	Abnormal pharynx morphology	3423	IDS	ORPHA:217085
HP:0033151	Abnormal pharynx morphology	3423	IDS	ORPHA:217093
HP:0033151	Abnormal pharynx morphology	51341	ZBTB7A	OMIM:619769
HP:0033151	Abnormal pharynx morphology	23149	FCHO1	OMIM:619164
HP:0033151	Abnormal pharynx morphology	1956	EGFR	OMIM:616069
HP:0033151	Abnormal pharynx morphology	7157	TP53	OMIM:607107
HP:0033151	Abnormal pharynx morphology	4486	MST1R	OMIM:617075
HP:0033151	Abnormal pharynx morphology	5573	PRKAR1A	ORPHA:1359
HP:0033151	Abnormal pharynx morphology	50940	PDE11A	ORPHA:1359
HP:0033151	Abnormal pharynx morphology	26191	PTPN22	ORPHA:397
HP:0033151	Abnormal pharynx morphology	3106	HLA-B	ORPHA:397
HP:0033151	Abnormal pharynx morphology	3123	HLA-DRB1	ORPHA:397
HP:0033151	Abnormal pharynx morphology	8974	P4HA2	ORPHA:397
HP:0033151	Abnormal pharynx morphology	55315	SLC29A3	ORPHA:168569
HP:0033151	Abnormal pharynx morphology	7132	TNFRSF1A	ORPHA:32960
HP:0033151	Abnormal pharynx morphology	331	XIAP	OMIM:308240
HP:0033151	Abnormal pharynx morphology	4068	SH2D1A	OMIM:308240
HP:0033151	Abnormal pharynx morphology	79087	ALG12	ORPHA:79324
HP:0033151	Abnormal pharynx morphology	2737	GLI3	ORPHA:672
HP:0033151	Abnormal pharynx morphology	5896	RAG1	ORPHA:331206
HP:0033151	Abnormal pharynx morphology	5897	RAG2	ORPHA:331206
HP:0033151	Abnormal pharynx morphology	4247	MGAT2	ORPHA:79329
HP:0033151	Abnormal pharynx morphology	8239	USP9X	ORPHA:480880
HP:0033151	Abnormal pharynx morphology	57379	AICDA	OMIM:605258
HP:0033151	Abnormal pharynx morphology	64421	DCLRE1C	ORPHA:275
HP:0033151	Abnormal pharynx morphology	7374	UNG	OMIM:608106
HP:0033151	Abnormal pharynx morphology	6340	SCNN1G	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	6337	SCNN1A	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	6338	SCNN1B	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	29969	MDFIC	OMIM:620014
HP:0033151	Abnormal pharynx morphology	7535	ZAP70	ORPHA:911
HP:0033151	Abnormal pharynx morphology	5354	PLP1	ORPHA:280210
HP:0033151	Abnormal pharynx morphology	9782	MATR3	ORPHA:600
HP:0033151	Abnormal pharynx morphology	10755	GIPC1	ORPHA:98897
HP:0033151	Abnormal pharynx morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0033152	Abnormal pharynx physiology	91662	NLRP12	OMIM:611762
HP:0033152	Abnormal pharynx physiology	1380	CR2	OMIM:614699
HP:0033155	Elevated circulating L-alloisoleucine concentration	1629	DBT	OMIM:248600
HP:0033155	Elevated circulating L-alloisoleucine concentration	593	BCKDHA	OMIM:248600
HP:0033155	Elevated circulating L-alloisoleucine concentration	594	BCKDHB	OMIM:248600
HP:0033158	Reduced respiratory ciliary beating frequency	374407	DNAJB13	OMIM:617091
HP:0033158	Reduced respiratory ciliary beating frequency	1770	DNAH9	OMIM:618300
HP:0033161	Abnormal urinary purine level	1147	CHUK	OMIM:613630
HP:0033161	Abnormal urinary purine level	471	ATIC	OMIM:608688
HP:0033162	Abnormal urinary pyrimidine level	1806	DPYD	OMIM:274270
HP:0033162	Abnormal urinary pyrimidine level	1806	DPYD	ORPHA:1675
HP:0033162	Abnormal urinary pyrimidine level	1807	DPYS	OMIM:222748
HP:0033162	Abnormal urinary pyrimidine level	9154	SLC28A1	OMIM:618477
HP:0033164	Focal active colitis	1794	DOCK2	OMIM:616433
HP:0033165	Necrotizing enterocolitis	8547	FCN3	OMIM:613860
HP:0033165	Necrotizing enterocolitis	2271	FH	OMIM:606812
HP:0033165	Necrotizing enterocolitis	4629	MYH11	OMIM:619350
HP:0033165	Necrotizing enterocolitis	37	ACADVL	OMIM:201475
HP:0033165	Necrotizing enterocolitis	84992	PIGY	OMIM:616809
HP:0033165	Necrotizing enterocolitis	50619	DEF6	OMIM:619573
HP:0033166	Recurrent viral upper respiratory tract infections	4791	NFKB2	OMIM:615577
HP:0033166	Recurrent viral upper respiratory tract infections	64135	IFIH1	OMIM:619773
HP:0033166	Recurrent viral upper respiratory tract infections	2214	FCGR3A	OMIM:615707
HP:0033176	Submandibular lymph node enlargement	6452	SH3BP2	OMIM:118400
HP:0033177	Elevated circulating suberic acid concentration	7385	UQCRC2	OMIM:615160
HP:0033178	Increased circulating interleukin 8 concentration	5422	POLA1	OMIM:301220
HP:0033178	Increased circulating interleukin 8 concentration	5696	PSMB8	OMIM:256040
HP:0033183	Bilobed right lung	57545	CC2D2A	OMIM:612284
HP:0033186	Misalignment of the pulmonary veins	6439	SFTPB	OMIM:265120
HP:0033186	Misalignment of the pulmonary veins	2294	FOXF1	OMIM:265380
HP:0033187	Hyperimidodipeptiduria	5184	PEPD	OMIM:170100
HP:0033188	Cystic acne	9051	PSTPIP1	OMIM:604416
HP:0033188	Cystic acne	4210	MEFV	OMIM:608068
HP:0033189	Radiculomegaly	54880	BCOR	OMIM:300166
HP:0033190	Hypertrichotic hyperpigmented patch	55315	SLC29A3	OMIM:602782
HP:0033192	Decreased circulating selenium concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033193	Ballooning hepatocyte degeneration	54914	FOCAD	OMIM:619991
HP:0033193	Ballooning hepatocyte degeneration	10165	SLC25A13	OMIM:603471
HP:0033194	Perioral erythema	6868	ADAM17	OMIM:614328
HP:0033194	Perioral erythema	55630	SLC39A4	OMIM:201100
HP:0033194	Perioral erythema	6720	SREBF1	OMIM:619016
HP:0033194	Perioral erythema	57152	SLURP1	OMIM:248300
HP:0033195	Perianal erythema	51360	MBTPS2	OMIM:308205
HP:0033195	Perianal erythema	6868	ADAM17	OMIM:614328
HP:0033195	Perianal erythema	55630	SLC39A4	OMIM:201100
HP:0033196	Portal inflammation	9968	MED12	OMIM:301068
HP:0033196	Portal inflammation	5244	ABCB4	OMIM:602347
HP:0033196	Portal inflammation	5244	ABCB4	OMIM:600803
HP:0033196	Portal inflammation	8772	FADD	OMIM:613759
HP:0033196	Portal inflammation	54914	FOCAD	OMIM:619991
HP:0033196	Portal inflammation	10165	SLC25A13	OMIM:603471
HP:0033199	Increased circulating interleukin 10 concentration	8772	FADD	OMIM:613759
HP:0004802	Episodic hemolytic anemia	6573	SLC19A1	OMIM:601775
HP:0004802	Episodic hemolytic anemia	10058	ABCB6	ORPHA:90044
HP:0004802	Episodic hemolytic anemia	64241	ABCG8	OMIM:210250
HP:0004804	Congenital hemolytic anemia	2035	EPB41	ORPHA:288
HP:0004804	Congenital hemolytic anemia	2995	GYPC	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6710	SPTB	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6708	SPTA1	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6521	SLC4A1	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	9780	PIEZO1	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	3783	KCNN4	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	5313	PKLR	ORPHA:766
HP:0004839	Pyropoikilocytosis	6708	SPTA1	OMIM:266140
HP:0004839	Pyropoikilocytosis	6710	SPTB	OMIM:617948
HP:0004809	Neonatal alloimmune thrombocytopenia	10535	RNASEH2A	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	84153	RNASEH2C	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	25939	SAMHD1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	79621	RNASEH2B	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	103	ADAR	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	11277	TREX1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	100147744	RNU7-1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	134353	LSM11	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	64135	IFIH1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	2811	GP1BA	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	2812	GP1BB	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3674	ITGA2B	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3673	ITGA2	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	135228	CD109	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3690	ITGB3	ORPHA:853
HP:0004812	B Acute Lymphoblastic Leukemia	2120	ETV6	OMIM:616216
HP:0004812	B Acute Lymphoblastic Leukemia	675	BRCA2	OMIM:613029
HP:0004812	B Acute Lymphoblastic Leukemia	6929	TCF3	OMIM:619824
HP:0004814	Fava bean-induced hemolytic anemia	8573	CASK	OMIM:300908
HP:0004814	Fava bean-induced hemolytic anemia	2539	G6PD	OMIM:300908
HP:0004814	Fava bean-induced hemolytic anemia	2936	GSR	OMIM:618660
HP:0004870	Chronic hemolytic anemia	5313	PKLR	OMIM:266200
HP:0004870	Chronic hemolytic anemia	5313	PKLR	ORPHA:766
HP:0004870	Chronic hemolytic anemia	7167	TPI1	OMIM:615512
HP:0004870	Chronic hemolytic anemia	3043	HBB	ORPHA:232
HP:0004870	Chronic hemolytic anemia	374354	NHLRC2	OMIM:618278
HP:0004870	Chronic hemolytic anemia	6710	SPTB	OMIM:617948
HP:0004870	Chronic hemolytic anemia	64241	ABCG8	OMIM:210250
HP:0004817	Drug-sensitive hemolytic anemia	3043	HBB	ORPHA:2133
HP:0004818	Paroxysmal nocturnal hemoglobinuria	5277	PIGA	OMIM:300818
HP:0004818	Paroxysmal nocturnal hemoglobinuria	51604	PIGT	OMIM:615399
HP:0004818	Paroxysmal nocturnal hemoglobinuria	966	CD59	OMIM:612300
HP:0004819	Normocytic hypoplastic anemia	4598	MVK	OMIM:610377
HP:0004820	Acute myelomonocytic leukemia	219285	SAMD9L	OMIM:159550
HP:0004820	Acute myelomonocytic leukemia	219285	SAMD9L	ORPHA:2585
HP:0004820	Acute myelomonocytic leukemia	3417	IDH1	ORPHA:99646
HP:0004821	Hypersegmentation of neutrophil nuclei	10841	FTCD	OMIM:229100
HP:0004821	Hypersegmentation of neutrophil nuclei	119559	SFXN4	OMIM:615578
HP:0004821	Hypersegmentation of neutrophil nuclei	8029	CUBN	ORPHA:35858
HP:0004821	Hypersegmentation of neutrophil nuclei	81693	AMN	ORPHA:35858
HP:0004821	Hypersegmentation of neutrophil nuclei	6573	SLC19A1	OMIM:601775
HP:0004821	Hypersegmentation of neutrophil nuclei	4522	MTHFD1	OMIM:617780
HP:0004823	Anisopoikilocytosis	3783	KCNN4	OMIM:616689
HP:0004823	Anisopoikilocytosis	790	CAD	OMIM:616457
HP:0004823	Anisopoikilocytosis	8029	CUBN	ORPHA:35858
HP:0004823	Anisopoikilocytosis	81693	AMN	ORPHA:35858
HP:0004823	Anisopoikilocytosis	9419	CRIPT	OMIM:615789
HP:0004823	Anisopoikilocytosis	81570	CLPB	OMIM:619835
HP:0004823	Anisopoikilocytosis	6309	SC5D	ORPHA:46059
HP:0004823	Anisopoikilocytosis	6309	SC5D	OMIM:607330
HP:0004823	Anisopoikilocytosis	3043	HBB	ORPHA:231214
HP:0004823	Anisopoikilocytosis	55240	STEAP3	ORPHA:300298
HP:0004823	Anisopoikilocytosis	80739	MPIG6B	OMIM:617441
HP:0004826	Folate-unresponsive megaloblastic anemia	7372	UMPS	OMIM:258900
HP:0004828	Refractory anemia with ringed sideroblasts	2065	ERBB3	OMIM:133180
HP:0004828	Refractory anemia with ringed sideroblasts	150274	HSCB	OMIM:619523
HP:0004828	Refractory anemia with ringed sideroblasts	3313	HSPA9	OMIM:182170
HP:0004828	Refractory anemia with ringed sideroblasts	54790	TET2	ORPHA:75564
HP:0004828	Refractory anemia with ringed sideroblasts	23451	SF3B1	ORPHA:75564
HP:0004831	Recurrent thromboembolism	3273	HRG	OMIM:613116
HP:0004831	Recurrent thromboembolism	462	SERPINC1	ORPHA:82
HP:0004845	Acute monocytic leukemia	861	RUNX1	OMIM:601399
HP:0004845	Acute monocytic leukemia	161742	SPRED1	ORPHA:137605
HP:0004845	Acute monocytic leukemia	1991	ELANE	OMIM:202700
HP:0004835	Microspherocytosis	6708	SPTA1	OMIM:266140
HP:0004836	Acute promyelocytic leukemia	4926	NUMA1	OMIM:612376
HP:0004836	Acute promyelocytic leukemia	5914	RARA	OMIM:612376
HP:0004836	Acute promyelocytic leukemia	6609	SMPD1	ORPHA:77293
HP:0004840	Hypochromic microcytic anemia	212	ALAS2	OMIM:300751
HP:0004840	Hypochromic microcytic anemia	9663	LPIN2	ORPHA:77297
HP:0004840	Hypochromic microcytic anemia	29775	CARD10	OMIM:619632
HP:0004840	Hypochromic microcytic anemia	51095	TRNT1	OMIM:616084
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:231214
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:2133
HP:0004840	Hypochromic microcytic anemia	3043	HBB	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:231226
HP:0004840	Hypochromic microcytic anemia	3043	HBB	OMIM:613985
HP:0004840	Hypochromic microcytic anemia	131118	DNAJC19	ORPHA:66634
HP:0004840	Hypochromic microcytic anemia	3040	HBA2	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	3039	HBA1	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	546	ATRX	OMIM:301040
HP:0004840	Hypochromic microcytic anemia	546	ATRX	OMIM:300448
HP:0004840	Hypochromic microcytic anemia	53335	BCL11A	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	10661	KLF1	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3047	HBG1	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3048	HBG2	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	28962	OSTM1	OMIM:259720
HP:0004840	Hypochromic microcytic anemia	22	ABCB7	OMIM:301310
HP:0004840	Hypochromic microcytic anemia	3735	KARS1	OMIM:619147
HP:0004840	Hypochromic microcytic anemia	205327	C2orf69	OMIM:619423
HP:0004840	Hypochromic microcytic anemia	150274	HSCB	OMIM:619523
HP:0004840	Hypochromic microcytic anemia	164656	TMPRSS6	OMIM:206200
HP:0004840	Hypochromic microcytic anemia	1356	CP	ORPHA:48818
HP:0004840	Hypochromic microcytic anemia	23729	SHPK	ORPHA:440713
HP:0004840	Hypochromic microcytic anemia	6901	TAFAZZIN	OMIM:302060
HP:0004846	Prolonged bleeding after surgery	2165	F13B	ORPHA:331
HP:0004846	Prolonged bleeding after surgery	2165	F13B	OMIM:613235
HP:0004846	Prolonged bleeding after surgery	2162	F13A1	ORPHA:331
HP:0004846	Prolonged bleeding after surgery	5054	SERPINE1	ORPHA:465
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:177926
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:169805
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:169802
HP:0004846	Prolonged bleeding after surgery	2811	GP1BA	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2811	GP1BA	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2812	GP1BB	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2812	GP1BB	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2815	GP9	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2815	GP9	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2159	F10	OMIM:227600
HP:0004846	Prolonged bleeding after surgery	2159	F10	ORPHA:328
HP:0004846	Prolonged bleeding after surgery	3690	ITGB3	OMIM:619267
HP:0004846	Prolonged bleeding after surgery	3690	ITGB3	ORPHA:849
HP:0004846	Prolonged bleeding after surgery	7450	VWF	OMIM:193400
HP:0004846	Prolonged bleeding after surgery	7450	VWF	OMIM:277480
HP:0004846	Prolonged bleeding after surgery	3998	LMAN1	ORPHA:35909
HP:0004846	Prolonged bleeding after surgery	90411	MCFD2	ORPHA:35909
HP:0004846	Prolonged bleeding after surgery	3674	ITGA2B	ORPHA:849
HP:0004846	Prolonged bleeding after surgery	64805	P2RY12	OMIM:609821
HP:0004846	Prolonged bleeding after surgery	2155	F7	ORPHA:327
HP:0004846	Prolonged bleeding after surgery	2153	F5	ORPHA:326
HP:0004848	Ph-positive acute lymphoblastic leukemia	25	ABL1	OMIM:608232
HP:0004848	Ph-positive acute lymphoblastic leukemia	613	BCR	OMIM:608232
HP:0004850	Recurrent deep vein thrombosis	3053	SERPIND1	OMIM:612356
HP:0004850	Recurrent deep vein thrombosis	5624	PROC	OMIM:612304
HP:0004851	Folate-responsive megaloblastic anemia	113235	SLC46A1	OMIM:229050
HP:0004851	Folate-responsive megaloblastic anemia	6573	SLC19A1	OMIM:601775
HP:0004852	Reduced leukocyte alkaline phosphatase	25	ABL1	OMIM:608232
HP:0004852	Reduced leukocyte alkaline phosphatase	613	BCR	OMIM:608232
HP:0004854	Intermittent thrombocytopenia	92579	G6PC3	OMIM:612541
HP:0004854	Intermittent thrombocytopenia	7454	WAS	OMIM:313900
HP:0004854	Intermittent thrombocytopenia	9948	WDR1	OMIM:150550
HP:0004854	Intermittent thrombocytopenia	7037	TFRC	OMIM:616740
HP:0004854	Intermittent thrombocytopenia	2811	GP1BA	OMIM:177820
HP:0004855	Reduced protein S activity	2677	GGCX	OMIM:277450
HP:0004855	Reduced protein S activity	4351	MPI	ORPHA:79319
HP:0004855	Reduced protein S activity	5627	PROS1	OMIM:614514
HP:0004855	Reduced protein S activity	5627	PROS1	OMIM:612336
HP:0004855	Reduced protein S activity	1798	DPAGT1	ORPHA:86309
HP:0004855	Reduced protein S activity	8813	DPM1	OMIM:608799
HP:0004855	Reduced protein S activity	8813	DPM1	ORPHA:79322
HP:0004855	Reduced protein S activity	29929	ALG6	ORPHA:79320
HP:0004855	Reduced protein S activity	2683	B4GALT1	ORPHA:79332
HP:0004855	Reduced protein S activity	79087	ALG12	ORPHA:79324
HP:0004856	Normochromic microcytic anemia	131118	DNAJC19	OMIM:610198
HP:0004856	Normochromic microcytic anemia	131118	DNAJC19	ORPHA:66634
HP:0004859	Amegakaryocytic thrombocytopenia	4352	MPL	OMIM:604498
HP:0004859	Amegakaryocytic thrombocytopenia	2122	MECOM	ORPHA:71289
HP:0004859	Amegakaryocytic thrombocytopenia	3207	HOXA11	ORPHA:71289
HP:0004859	Amegakaryocytic thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0004859	Amegakaryocytic thrombocytopenia	5604	MAP2K1	OMIM:163950
HP:0004859	Amegakaryocytic thrombocytopenia	5781	PTPN11	OMIM:163950
HP:0004859	Amegakaryocytic thrombocytopenia	673	BRAF	OMIM:163950
HP:0030708	Myeloschisis	81839	VANGL1	OMIM:600145
HP:0030707	Unilateral lung agenesis	6651	SON	OMIM:617140
HP:0030707	Unilateral lung agenesis	6651	SON	ORPHA:500150
HP:0004860	Thiamine-responsive megaloblastic anemia	10560	SLC19A2	OMIM:249270
HP:0004861	Refractory macrocytic anemia	6208	RPS14	OMIM:153550
HP:0004863	Compensated hemolytic anemia	2876	GPX1	OMIM:614164
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	OMIM:619267
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0004866	Impaired ADP-induced platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0004866	Impaired ADP-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0004866	Impaired ADP-induced platelet aggregation	64376	IKZF5	OMIM:619130
HP:0004866	Impaired ADP-induced platelet aggregation	4627	MYH9	OMIM:155100
HP:0004866	Impaired ADP-induced platelet aggregation	2811	GP1BA	OMIM:153670
HP:0004866	Impaired ADP-induced platelet aggregation	10019	SH2B3	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	811	CALR	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	7066	THPO	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	11234	HPS5	OMIM:614074
HP:0004866	Impaired ADP-induced platelet aggregation	87	ACTN1	OMIM:615193
HP:0004866	Impaired ADP-induced platelet aggregation	2313	FLI1	OMIM:617443
HP:0004866	Impaired ADP-induced platelet aggregation	79803	HPS6	OMIM:614075
HP:0004866	Impaired ADP-induced platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0004866	Impaired ADP-induced platelet aggregation	64805	P2RY12	OMIM:609821
HP:0004866	Impaired ADP-induced platelet aggregation	8546	AP3B1	OMIM:608233
HP:0030718	Right atrial enlargement	6123	RPL3L	OMIM:619371
HP:0030718	Right atrial enlargement	7092	TLL1	ORPHA:99103
HP:0030718	Right atrial enlargement	7092	TLL1	ORPHA:99106
HP:0030718	Right atrial enlargement	57057	TBX20	ORPHA:99103
HP:0030718	Right atrial enlargement	4624	MYH6	ORPHA:99103
HP:0030718	Right atrial enlargement	1482	NKX2-5	ORPHA:99103
HP:0030718	Right atrial enlargement	70	ACTC1	ORPHA:99103
HP:0030718	Right atrial enlargement	10370	CITED2	ORPHA:99103
HP:0030718	Right atrial enlargement	2626	GATA4	ORPHA:99103
HP:0030718	Right atrial enlargement	2627	GATA6	ORPHA:99103
HP:0030718	Right atrial enlargement	2316	FLNA	ORPHA:555877
HP:0030718	Right atrial enlargement	55388	MCM10	OMIM:619313
HP:0030718	Right atrial enlargement	4607	MYBPC3	OMIM:115197
HP:0030718	Right atrial enlargement	4633	MYL2	OMIM:619424
HP:0030718	Right atrial enlargement	368	ABCC6	OMIM:614473
HP:0030718	Right atrial enlargement	2318	FLNC	OMIM:617047
HP:0030718	Right atrial enlargement	2318	FLNC	ORPHA:75249
HP:0030718	Right atrial enlargement	4851	NOTCH1	OMIM:616028
HP:0030718	Right atrial enlargement	8815	BANF1	OMIM:614008
HP:0030718	Right atrial enlargement	8777	MPDZ	OMIM:615219
HP:0030718	Right atrial enlargement	7139	TNNT2	OMIM:612422
HP:0030718	Right atrial enlargement	7139	TNNT2	ORPHA:75249
HP:0030718	Right atrial enlargement	84665	MYPN	ORPHA:75249
HP:0030718	Right atrial enlargement	7137	TNNI3	ORPHA:75249
HP:0030718	Right atrial enlargement	10112	KIF20A	ORPHA:75249
HP:0030718	Right atrial enlargement	10551	AGR2	OMIM:620233
HP:0030717	Meconium peritonitis	8318	CDC45	OMIM:617063
HP:0030716	Acrania	4659	PPP1R12A	OMIM:618820
HP:0030713	Vein of Galen aneurysmal malformation	2050	EPHB4	ORPHA:137667
HP:0030713	Vein of Galen aneurysmal malformation	2050	EPHB4	OMIM:618196
HP:0030713	Vein of Galen aneurysmal malformation	5921	RASA1	ORPHA:137667
HP:0030713	Vein of Galen aneurysmal malformation	1906	EDN1	ORPHA:137888
HP:0030713	Vein of Galen aneurysmal malformation	5332	PLCB4	ORPHA:137888
HP:0030713	Vein of Galen aneurysmal malformation	2773	GNAI3	ORPHA:137888
HP:0004871	Perineal fistula	1024	CDK8	OMIM:618748
HP:0004871	Perineal fistula	6299	SALL1	OMIM:107480
HP:0004871	Perineal fistula	6299	SALL1	ORPHA:857
HP:0004871	Perineal fistula	51339	DACT1	ORPHA:857
HP:0004871	Perineal fistula	9401	RECQL4	OMIM:218600
HP:0004871	Perineal fistula	26123	TCTN3	ORPHA:2753
HP:0004871	Perineal fistula	6850	SYK	OMIM:619381
HP:0004871	Perineal fistula	4689	NCF4	OMIM:613960
HP:0004871	Perineal fistula	2000	ELF4	OMIM:301074
HP:0004871	Perineal fistula	917	CD3G	OMIM:615607
HP:0004871	Perineal fistula	5317	PKP1	ORPHA:158668
HP:0004871	Perineal fistula	7040	TGFB1	OMIM:618213
HP:0004871	Perineal fistula	8085	KMT2D	OMIM:147920
HP:0004871	Perineal fistula	7403	KDM6A	OMIM:147920
HP:0004872	Incisional hernia	1277	COL1A1	ORPHA:287
HP:0004872	Incisional hernia	1289	COL5A1	ORPHA:287
HP:0004872	Incisional hernia	1290	COL5A2	ORPHA:287
HP:0004872	Incisional hernia	2200	FBN1	OMIM:154700
HP:0004875	Neonatal inspiratory stridor	6329	SCN4A	ORPHA:684
HP:0004875	Neonatal inspiratory stridor	3835	KIF22	ORPHA:93360
HP:0004876	Spontaneous neonatal pneumothorax	6439	SFTPB	ORPHA:217563
HP:0004876	Spontaneous neonatal pneumothorax	9509	ADAMTS2	OMIM:225410
HP:0004878	Intercostal muscle weakness	59341	TRPV4	OMIM:606071
HP:0004878	Intercostal muscle weakness	57190	SELENON	ORPHA:2020
HP:0004878	Intercostal muscle weakness	58	ACTA1	ORPHA:2020
HP:0004878	Intercostal muscle weakness	4633	MYL2	ORPHA:2020
HP:0004878	Intercostal muscle weakness	3679	ITGA7	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7169	TPM2	ORPHA:2020
HP:0004878	Intercostal muscle weakness	9200	HACD1	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7170	TPM3	ORPHA:2020
HP:0004878	Intercostal muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7443	VRK1	OMIM:607596
HP:0004878	Intercostal muscle weakness	3908	LAMA2	ORPHA:258
HP:0004879	Intermittent hyperventilation	8573	CASK	OMIM:300749
HP:0004879	Intermittent hyperventilation	4204	MECP2	OMIM:312750
HP:0004879	Intermittent hyperventilation	6925	TCF4	OMIM:610954
HP:0004879	Intermittent hyperventilation	26047	CNTNAP2	ORPHA:163681
HP:0004879	Intermittent hyperventilation	2203	FBP1	ORPHA:348
HP:0030721	Tetraphocomelia	157570	ESCO2	OMIM:268300
HP:0030721	Tetraphocomelia	3930	LBR	OMIM:215140
HP:0030724	Central nervous system cyst	10682	EBP	ORPHA:401973
HP:0030724	Central nervous system cyst	10682	EBP	OMIM:300960
HP:0030724	Central nervous system cyst	10682	EBP	OMIM:302960
HP:0030724	Central nervous system cyst	56896	DPYSL5	OMIM:619435
HP:0030724	Central nervous system cyst	3265	HRAS	ORPHA:2612
HP:0030724	Central nervous system cyst	4893	NRAS	ORPHA:2612
HP:0030724	Central nervous system cyst	4893	NRAS	OMIM:249400
HP:0030724	Central nervous system cyst	23556	PIGN	ORPHA:2059
HP:0030724	Central nervous system cyst	7355	SLC35A2	ORPHA:356961
HP:0030724	Central nervous system cyst	65062	TMEM237	OMIM:614424
HP:0030724	Central nervous system cyst	65062	TMEM237	ORPHA:564
HP:0030724	Central nervous system cyst	7545	ZIC1	OMIM:616602
HP:0030724	Central nervous system cyst	7545	ZIC1	OMIM:618736
HP:0030724	Central nervous system cyst	84942	WDR73	OMIM:251300
HP:0030724	Central nervous system cyst	2737	GLI3	ORPHA:36
HP:0030724	Central nervous system cyst	9786	KIAA0586	ORPHA:397715
HP:0030724	Central nervous system cyst	57465	TBC1D24	OMIM:220500
HP:0030724	Central nervous system cyst	57465	TBC1D24	ORPHA:79500
HP:0030724	Central nervous system cyst	55112	DYNC2I1	ORPHA:93271
HP:0030724	Central nervous system cyst	57560	IFT80	ORPHA:93271
HP:0030724	Central nervous system cyst	57539	WDR35	ORPHA:93271
HP:0030724	Central nervous system cyst	89891	DYNC2I2	ORPHA:93271
HP:0030724	Central nervous system cyst	1436	CSF1R	OMIM:618476
HP:0030724	Central nervous system cyst	84162	BLTP1	OMIM:617822
HP:0030724	Central nervous system cyst	4081	MAB21L1	OMIM:618479
HP:0030724	Central nervous system cyst	51259	TMEM216	OMIM:603194
HP:0030724	Central nervous system cyst	51259	TMEM216	ORPHA:564
HP:0030724	Central nervous system cyst	55636	CHD7	ORPHA:138
HP:0030724	Central nervous system cyst	9723	SEMA3E	ORPHA:138
HP:0030724	Central nervous system cyst	84892	POMGNT2	ORPHA:899
HP:0030724	Central nervous system cyst	1282	COL4A1	ORPHA:899
HP:0030724	Central nervous system cyst	10329	RXYLT1	ORPHA:899
HP:0030724	Central nervous system cyst	11041	B4GAT1	ORPHA:899
HP:0030724	Central nervous system cyst	11041	B4GAT1	OMIM:615287
HP:0030724	Central nervous system cyst	79068	FTO	OMIM:612938
HP:0030724	Central nervous system cyst	57492	ARID1B	OMIM:135900
HP:0030724	Central nervous system cyst	57492	ARID1B	ORPHA:1465
HP:0030724	Central nervous system cyst	3899	AFF3	OMIM:619297
HP:0030724	Central nervous system cyst	6597	SMARCA4	ORPHA:1465
HP:0030724	Central nervous system cyst	6597	SMARCA4	OMIM:614609
HP:0030724	Central nervous system cyst	6598	SMARCB1	ORPHA:1465
HP:0030724	Central nervous system cyst	6598	SMARCB1	OMIM:614608
HP:0030724	Central nervous system cyst	6659	SOX4	ORPHA:1465
HP:0030724	Central nervous system cyst	8289	ARID1A	ORPHA:1465
HP:0030724	Central nervous system cyst	8289	ARID1A	OMIM:614607
HP:0030724	Central nervous system cyst	5977	DPF2	ORPHA:1465
HP:0030724	Central nervous system cyst	6601	SMARCC2	ORPHA:1465
HP:0030724	Central nervous system cyst	6602	SMARCD1	ORPHA:1465
HP:0030724	Central nervous system cyst	196528	ARID2	ORPHA:1465
HP:0030724	Central nervous system cyst	6605	SMARCE1	ORPHA:1465
HP:0030724	Central nervous system cyst	6605	SMARCE1	OMIM:616938
HP:0030724	Central nervous system cyst	6664	SOX11	ORPHA:1465
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	ORPHA:2834
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	OMIM:219200
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	ORPHA:357074
HP:0030724	Central nervous system cyst	27315	PGAP2	OMIM:614207
HP:0030724	Central nervous system cyst	157570	ESCO2	ORPHA:2319
HP:0030724	Central nervous system cyst	5340	PLG	ORPHA:722
HP:0030724	Central nervous system cyst	5340	PLG	OMIM:217090
HP:0030724	Central nervous system cyst	1717	DHCR7	OMIM:270400
HP:0030724	Central nervous system cyst	84314	TMEM107	ORPHA:564
HP:0030724	Central nervous system cyst	26123	TCTN3	ORPHA:564
HP:0030724	Central nervous system cyst	79867	TCTN2	ORPHA:564
HP:0030724	Central nervous system cyst	80776	B9D2	ORPHA:564
HP:0030724	Central nervous system cyst	80776	B9D2	OMIM:614175
HP:0030724	Central nervous system cyst	79600	TCTN1	ORPHA:564
HP:0030724	Central nervous system cyst	57096	RPGRIP1	ORPHA:564
HP:0030724	Central nervous system cyst	80184	CEP290	ORPHA:564
HP:0030724	Central nervous system cyst	80184	CEP290	OMIM:611134
HP:0030724	Central nervous system cyst	57545	CC2D2A	ORPHA:564
HP:0030724	Central nervous system cyst	91147	TMEM67	ORPHA:564
HP:0030724	Central nervous system cyst	91147	TMEM67	OMIM:607361
HP:0030724	Central nervous system cyst	79770	TXNDC15	ORPHA:564
HP:0030724	Central nervous system cyst	27077	B9D1	ORPHA:564
HP:0030724	Central nervous system cyst	23322	RPGRIP1L	ORPHA:564
HP:0030724	Central nervous system cyst	54903	MKS1	ORPHA:564
HP:0030724	Central nervous system cyst	54903	MKS1	OMIM:249000
HP:0030724	Central nervous system cyst	27031	NPHP3	OMIM:267010
HP:0030724	Central nervous system cyst	27031	NPHP3	OMIM:208540
HP:0030724	Central nervous system cyst	27031	NPHP3	ORPHA:3032
HP:0030724	Central nervous system cyst	23258	DENND5A	OMIM:617281
HP:0030724	Central nervous system cyst	171023	ASXL1	ORPHA:97297
HP:0030724	Central nervous system cyst	171023	ASXL1	OMIM:605039
HP:0030724	Central nervous system cyst	9184	BUB3	ORPHA:1052
HP:0030724	Central nervous system cyst	699	BUB1	ORPHA:1052
HP:0030724	Central nervous system cyst	9702	CEP57	ORPHA:1052
HP:0030724	Central nervous system cyst	9319	TRIP13	ORPHA:1052
HP:0030724	Central nervous system cyst	701	BUB1B	ORPHA:1052
HP:0030724	Central nervous system cyst	701	BUB1B	OMIM:257300
HP:0030724	Central nervous system cyst	84188	FAR1	ORPHA:438178
HP:0030724	Central nervous system cyst	84188	FAR1	OMIM:616154
HP:0030724	Central nervous system cyst	2260	FGFR1	OMIM:613001
HP:0030724	Central nervous system cyst	124997	WDR81	OMIM:617967
HP:0030724	Central nervous system cyst	2683	B4GALT1	OMIM:607091
HP:0030724	Central nervous system cyst	2683	B4GALT1	ORPHA:79332
HP:0030724	Central nervous system cyst	26005	C2CD3	OMIM:615948
HP:0030724	Central nervous system cyst	26005	C2CD3	ORPHA:434179
HP:0030724	Central nervous system cyst	26227	PHGDH	OMIM:256520
HP:0030724	Central nervous system cyst	10804	GJB6	ORPHA:477
HP:0030724	Central nervous system cyst	2706	GJB2	ORPHA:477
HP:0030724	Central nervous system cyst	4927	NUP88	ORPHA:994
HP:0030724	Central nervous system cyst	7846	TUBA1A	ORPHA:994
HP:0030724	Central nervous system cyst	4654	MYOD1	ORPHA:994
HP:0030724	Central nervous system cyst	4593	MUSK	ORPHA:994
HP:0030724	Central nervous system cyst	5913	RAPSN	ORPHA:994
HP:0030724	Central nervous system cyst	6572	SLC18A3	ORPHA:994
HP:0030724	Central nervous system cyst	285489	DOK7	ORPHA:994
HP:0030724	Central nervous system cyst	7737	RNF113A	OMIM:300953
HP:0030724	Central nervous system cyst	56006	SMG9	OMIM:616920
HP:0030724	Central nervous system cyst	998	CDC42	ORPHA:487796
HP:0030724	Central nervous system cyst	51524	TMEM138	OMIM:614465
HP:0030724	Central nervous system cyst	8239	USP9X	ORPHA:480880
HP:0030724	Central nervous system cyst	8239	USP9X	OMIM:300968
HP:0030724	Central nervous system cyst	11128	POLR3A	OMIM:264090
HP:0030724	Central nervous system cyst	4534	MTM1	OMIM:310400
HP:0030724	Central nervous system cyst	526	ATP6V1B2	ORPHA:79500
HP:0030724	Central nervous system cyst	54880	BCOR	OMIM:300166
HP:0030724	Central nervous system cyst	203068	TUBB	OMIM:156610
HP:0030724	Central nervous system cyst	55640	FLVCR2	OMIM:225790
HP:0030724	Central nervous system cyst	28952	CCDC22	OMIM:300963
HP:0030724	Central nervous system cyst	28952	CCDC22	ORPHA:7
HP:0030724	Central nervous system cyst	80210	ARMC9	OMIM:617622
HP:0030724	Central nervous system cyst	5500	PPP1CB	OMIM:617506
HP:0030724	Central nervous system cyst	54676	GTPBP2	OMIM:617988
HP:0030724	Central nervous system cyst	5373	PMM2	ORPHA:79318
HP:0030724	Central nervous system cyst	63895	PIEZO2	OMIM:248700
HP:0030724	Central nervous system cyst	2239	GPC4	ORPHA:373
HP:0030724	Central nervous system cyst	2719	GPC3	ORPHA:373
HP:0030724	Central nervous system cyst	2121	EVC	OMIM:225500
HP:0030724	Central nervous system cyst	132884	EVC2	OMIM:225500
HP:0030724	Central nervous system cyst	153241	CEP120	OMIM:616300
HP:0030724	Central nervous system cyst	523	ATP6V1A	ORPHA:357074
HP:0030724	Central nervous system cyst	529	ATP6V1E1	ORPHA:357074
HP:0030724	Central nervous system cyst	3798	KIF5A	OMIM:617235
HP:0030724	Central nervous system cyst	1028	CDKN1C	OMIM:130650
HP:0030724	Central nervous system cyst	10984	KCNQ1OT1	OMIM:130650
HP:0030724	Central nervous system cyst	3481	IGF2	OMIM:130650
HP:0030724	Central nervous system cyst	3784	KCNQ1	OMIM:130650
HP:0030724	Central nervous system cyst	738	VPS51	OMIM:618606
HP:0030724	Central nervous system cyst	1376	CPT2	ORPHA:228305
HP:0030724	Central nervous system cyst	10195	ALG3	ORPHA:79321
HP:0030724	Central nervous system cyst	219844	HYLS1	OMIM:236680
HP:0030724	Central nervous system cyst	4281	MID1	ORPHA:2745
HP:0030724	Central nervous system cyst	8905	AP1S2	OMIM:304340
HP:0030724	Central nervous system cyst	29925	GMPPB	ORPHA:370959
HP:0030724	Central nervous system cyst	79147	FKRP	ORPHA:370959
HP:0030724	Central nervous system cyst	79147	FKRP	OMIM:606612
HP:0030724	Central nervous system cyst	79147	FKRP	OMIM:613153
HP:0030724	Central nervous system cyst	79147	FKRP	ORPHA:370980
HP:0030724	Central nervous system cyst	29954	POMT2	ORPHA:370959
HP:0030724	Central nervous system cyst	29954	POMT2	OMIM:613150
HP:0030724	Central nervous system cyst	84197	POMK	ORPHA:370959
HP:0030724	Central nervous system cyst	55624	POMGNT1	ORPHA:370959
HP:0030724	Central nervous system cyst	55624	POMGNT1	OMIM:613151
HP:0030724	Central nervous system cyst	55624	POMGNT1	OMIM:253280
HP:0030724	Central nervous system cyst	10585	POMT1	ORPHA:370959
HP:0030724	Central nervous system cyst	10585	POMT1	ORPHA:370980
HP:0030724	Central nervous system cyst	148789	B3GALNT2	OMIM:615181
HP:0030724	Central nervous system cyst	79659	DYNC2H1	OMIM:613091
HP:0030724	Central nervous system cyst	1281	COL3A1	OMIM:618343
HP:0030724	Central nervous system cyst	283989	TSEN54	ORPHA:2524
HP:0030724	Central nervous system cyst	116461	TSEN15	ORPHA:2524
HP:0030724	Central nervous system cyst	79042	TSEN34	ORPHA:2524
HP:0030724	Central nervous system cyst	80746	TSEN2	ORPHA:2524
HP:0030724	Central nervous system cyst	51091	SEPSECS	ORPHA:2524
HP:0030724	Central nervous system cyst	284217	LAMA1	OMIM:615960
HP:0030724	Central nervous system cyst	284217	LAMA1	ORPHA:370022
HP:0030724	Central nervous system cyst	8481	OFD1	OMIM:311200
HP:0030724	Central nervous system cyst	1605	DAG1	OMIM:616538
HP:0030724	Central nervous system cyst	1605	DAG1	ORPHA:370997
HP:0030724	Central nervous system cyst	11340	EXOSC8	ORPHA:2254
HP:0030724	Central nervous system cyst	5393	EXOSC9	ORPHA:2254
HP:0030724	Central nervous system cyst	23287	AGTPBP1	ORPHA:2254
HP:0030724	Central nervous system cyst	51010	EXOSC3	ORPHA:2254
HP:0030724	Central nervous system cyst	51010	EXOSC3	OMIM:614678
HP:0030724	Central nervous system cyst	7443	VRK1	ORPHA:2254
HP:0030724	Central nervous system cyst	91137	SLC25A46	ORPHA:2254
HP:0030724	Central nervous system cyst	2218	FKTN	ORPHA:370980
HP:0030724	Central nervous system cyst	2218	FKTN	OMIM:253800
HP:0030724	Central nervous system cyst	729920	CRPPA	ORPHA:370980
HP:0030724	Central nervous system cyst	9361	LONP1	ORPHA:79243
HP:0030724	Central nervous system cyst	5160	PDHA1	ORPHA:79243
HP:0030724	Central nervous system cyst	10844	TUBGCP2	OMIM:618737
HP:0030724	Central nervous system cyst	728294	D2HGDH	OMIM:600721
HP:0030724	Central nervous system cyst	2752	GLUL	OMIM:610015
HP:0030724	Central nervous system cyst	25828	TXN2	OMIM:616811
HP:0030724	Central nervous system cyst	25828	TXN2	ORPHA:478029
HP:0030724	Central nervous system cyst	5189	PEX1	OMIM:214100
HP:0030724	Central nervous system cyst	85476	GFM1	OMIM:609060
HP:0030724	Central nervous system cyst	4508	MT-ATP6	ORPHA:225154
HP:0030724	Central nervous system cyst	23636	NUP62	ORPHA:225154
HP:0030724	Central nervous system cyst	103	ADAR	ORPHA:225154
HP:0030724	Central nervous system cyst	4983	OPHN1	OMIM:300486
HP:0030724	Central nervous system cyst	4983	OPHN1	ORPHA:137831
HP:0030724	Central nervous system cyst	2892	GRIA3	ORPHA:364028
HP:0030724	Central nervous system cyst	160418	TMTC3	OMIM:617255
HP:0030724	Central nervous system cyst	27245	AHDC1	ORPHA:412069
HP:0030724	Central nervous system cyst	27245	AHDC1	OMIM:615829
HP:0030724	Central nervous system cyst	2911	GRM1	OMIM:614831
HP:0030724	Central nervous system cyst	57688	ZSWIM6	ORPHA:1827
HP:0030724	Central nervous system cyst	57688	ZSWIM6	OMIM:603671
HP:0030724	Central nervous system cyst	57572	DOCK6	OMIM:614219
HP:0030724	Central nervous system cyst	57231	SNX14	ORPHA:397709
HP:0030724	Central nervous system cyst	387787	LIPT2	OMIM:617668
HP:0030724	Central nervous system cyst	4953	ODC1	OMIM:619075
HP:0030724	Central nervous system cyst	4953	ODC1	ORPHA:544488
HP:0030724	Central nervous system cyst	5162	PDHB	ORPHA:255138
HP:0030724	Central nervous system cyst	53834	FGFRL1	OMIM:194190
HP:0030724	Central nervous system cyst	1487	CTBP1	OMIM:194190
HP:0030724	Central nervous system cyst	3954	LETM1	OMIM:194190
HP:0030724	Central nervous system cyst	7468	NSD2	OMIM:194190
HP:0030724	Central nervous system cyst	10815	CPLX1	OMIM:194190
HP:0030724	Central nervous system cyst	2670	GFAP	ORPHA:363722
HP:0030724	Central nervous system cyst	4952	OCRL	OMIM:309000
HP:0030724	Central nervous system cyst	8050	PDHX	ORPHA:255182
HP:0030724	Central nervous system cyst	790955	UQCC3	OMIM:616111
HP:0030724	Central nervous system cyst	2193	FARSA	OMIM:619013
HP:0030724	Central nervous system cyst	9897	WASHC5	OMIM:220210
HP:0030724	Central nervous system cyst	2073	ERCC5	OMIM:616570
HP:0030724	Central nervous system cyst	30813	VSX1	OMIM:614195
HP:0030724	Central nervous system cyst	23007	PLCH1	OMIM:619895
HP:0030724	Central nervous system cyst	392255	GDF6	OMIM:118100
HP:0030724	Central nervous system cyst	5159	PDGFRB	OMIM:601812
HP:0030724	Central nervous system cyst	18	ABAT	OMIM:613163
HP:0030724	Central nervous system cyst	79848	CSPP1	OMIM:615636
HP:0030724	Central nervous system cyst	1801	DPH1	ORPHA:459061
HP:0030724	Central nervous system cyst	9215	LARGE1	OMIM:236670
HP:0030724	Central nervous system cyst	2263	FGFR2	OMIM:101200
HP:0030724	Central nervous system cyst	727676	SNORD118	ORPHA:542310
HP:0030724	Central nervous system cyst	374654	KIF7	OMIM:200990
HP:0030724	Central nervous system cyst	1499	CTNNB1	ORPHA:54595
HP:0030724	Central nervous system cyst	673	BRAF	ORPHA:54595
HP:0030724	Central nervous system cyst	3417	IDH1	ORPHA:99646
HP:0030724	Central nervous system cyst	22827	PUF60	ORPHA:508498
HP:0030724	Central nervous system cyst	79971	WLS	OMIM:619648
HP:0030724	Central nervous system cyst	79583	TMEM231	ORPHA:2752
HP:0030724	Central nervous system cyst	57104	PNPLA2	ORPHA:98908
HP:0030724	Central nervous system cyst	23394	ADNP	OMIM:615873
HP:0030724	Central nervous system cyst	5718	PSMD12	OMIM:617516
HP:0030724	Central nervous system cyst	5718	PSMD12	ORPHA:529962
HP:0030724	Central nervous system cyst	80232	WDR26	ORPHA:513456
HP:0030724	Central nervous system cyst	3845	KRAS	OMIM:600268
HP:0030724	Central nervous system cyst	284058	KANSL1	ORPHA:363965
HP:0030724	Central nervous system cyst	284058	KANSL1	ORPHA:363958
HP:0030724	Central nervous system cyst	4841	NONO	OMIM:300967
HP:0030724	Central nervous system cyst	2590	GALNT2	OMIM:618885
HP:0030724	Central nervous system cyst	2186	BPTF	ORPHA:529962
HP:0030724	Central nervous system cyst	23395	LARS2	OMIM:615300
HP:0030724	Central nervous system cyst	55770	EXOC2	OMIM:619306
HP:0004887	Respiratory failure requiring assisted ventilation	4534	MTM1	ORPHA:596
HP:0004887	Respiratory failure requiring assisted ventilation	4534	MTM1	OMIM:310400
HP:0004887	Respiratory failure requiring assisted ventilation	6904	TBCD	ORPHA:496641
HP:0004887	Respiratory failure requiring assisted ventilation	79158	GNPTAB	ORPHA:576
HP:0004887	Respiratory failure requiring assisted ventilation	590	BCHE	ORPHA:132
HP:0004887	Respiratory failure requiring assisted ventilation	1439	CSF2RB	ORPHA:264675
HP:0004887	Respiratory failure requiring assisted ventilation	1438	CSF2RA	ORPHA:264675
HP:0004887	Respiratory failure requiring assisted ventilation	6609	SMPD1	ORPHA:77293
HP:0004887	Respiratory failure requiring assisted ventilation	4629	MYH11	OMIM:619351
HP:0004887	Respiratory failure requiring assisted ventilation	5631	PRPS1	ORPHA:1187
HP:0004887	Respiratory failure requiring assisted ventilation	415	ARSL	ORPHA:79345
HP:0004887	Respiratory failure requiring assisted ventilation	283989	TSEN54	ORPHA:166063
HP:0004887	Respiratory failure requiring assisted ventilation	84842	HPDL	OMIM:619026
HP:0004887	Respiratory failure requiring assisted ventilation	2548	GAA	ORPHA:308552
HP:0004887	Respiratory failure requiring assisted ventilation	91137	SLC25A46	OMIM:619303
HP:0004887	Respiratory failure requiring assisted ventilation	27245	AHDC1	ORPHA:412069
HP:0004887	Respiratory failure requiring assisted ventilation	1806	DPYD	ORPHA:1675
HP:0004887	Respiratory failure requiring assisted ventilation	10342	TFG	ORPHA:90117
HP:0004887	Respiratory failure requiring assisted ventilation	284184	NDUFAF8	OMIM:618776
HP:0004887	Respiratory failure requiring assisted ventilation	113278	SLC52A3	OMIM:211530
HP:0004887	Respiratory failure requiring assisted ventilation	84172	POLR1B	OMIM:618939
HP:0004887	Respiratory failure requiring assisted ventilation	7187	TRAF3	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	81622	UNC93B1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	148022	TICAM1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	7098	TLR3	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	29110	TBK1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	7084	TK2	ORPHA:254875
HP:0004887	Respiratory failure requiring assisted ventilation	4556	MT-TE	ORPHA:254864
HP:0004887	Respiratory failure requiring assisted ventilation	55687	TRMU	ORPHA:254864
HP:0004887	Respiratory failure requiring assisted ventilation	210	ALAD	ORPHA:100924
HP:0004887	Respiratory failure requiring assisted ventilation	3508	IGHMBP2	OMIM:604320
HP:0004887	Respiratory failure requiring assisted ventilation	5557	PRIM1	OMIM:620005
HP:0004887	Respiratory failure requiring assisted ventilation	11274	USP18	OMIM:617397
HP:0004885	Episodic respiratory distress	4535	MT-ND1	ORPHA:255210
HP:0004885	Episodic respiratory distress	4536	MT-ND2	ORPHA:255210
HP:0004885	Episodic respiratory distress	4537	MT-ND3	ORPHA:255210
HP:0004885	Episodic respiratory distress	4538	MT-ND4	ORPHA:255210
HP:0004885	Episodic respiratory distress	4567	MT-TL1	ORPHA:255210
HP:0004885	Episodic respiratory distress	4578	MT-TW	ORPHA:255210
HP:0004885	Episodic respiratory distress	4577	MT-TV	ORPHA:255210
HP:0004885	Episodic respiratory distress	4508	MT-ATP6	ORPHA:255210
HP:0004885	Episodic respiratory distress	4540	MT-ND5	ORPHA:255210
HP:0004885	Episodic respiratory distress	4541	MT-ND6	ORPHA:255210
HP:0004885	Episodic respiratory distress	4566	MT-TK	ORPHA:255210
HP:0004885	Episodic respiratory distress	60482	SLC5A7	ORPHA:98914
HP:0004885	Episodic respiratory distress	4649	MYO9A	ORPHA:98914
HP:0004885	Episodic respiratory distress	1305	COL13A1	ORPHA:98914
HP:0004885	Episodic respiratory distress	1103	CHAT	ORPHA:98914
HP:0004885	Episodic respiratory distress	6576	SLC25A1	ORPHA:98914
HP:0004885	Episodic respiratory distress	6843	VAMP1	ORPHA:98914
HP:0004885	Episodic respiratory distress	375790	AGRN	ORPHA:98914
HP:0004885	Episodic respiratory distress	127833	SYT2	ORPHA:98914
HP:0004885	Episodic respiratory distress	6572	SLC18A3	ORPHA:98914
HP:0004885	Episodic respiratory distress	6616	SNAP25	ORPHA:98914
HP:0004886	Congenital laryngeal stridor	11340	EXOSC8	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	5393	EXOSC9	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	23287	AGTPBP1	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	51010	EXOSC3	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	7443	VRK1	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	91137	SLC25A46	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	5354	PLP1	OMIM:312080
HP:0004886	Congenital laryngeal stridor	23114	NFASC	OMIM:618356
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1134	CHRNA1	OMIM:601462
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	57190	SELENON	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	4625	MYH7	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	7273	TTN	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	4649	MYO9A	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1305	COL13A1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1103	CHAT	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6843	VAMP1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	375790	AGRN	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	127833	SYT2	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6616	SNAP25	ORPHA:98914
HP:0030732	Dysplastic tricuspid valve	745	MYRF	OMIM:618280
HP:0030732	Dysplastic tricuspid valve	2294	FOXF1	OMIM:265380
HP:0030732	Dysplastic tricuspid valve	55636	CHD7	OMIM:214800
HP:0030732	Dysplastic tricuspid valve	6885	MAP3K7	OMIM:157800
HP:0010300	Abnormally low-pitched voice	23476	BRD4	ORPHA:199
HP:0010300	Abnormally low-pitched voice	9126	SMC3	ORPHA:199
HP:0010300	Abnormally low-pitched voice	8243	SMC1A	ORPHA:199
HP:0010300	Abnormally low-pitched voice	25836	NIPBL	ORPHA:199
HP:0010300	Abnormally low-pitched voice	55869	HDAC8	ORPHA:199
HP:0010300	Abnormally low-pitched voice	5885	RAD21	ORPHA:199
HP:0010300	Abnormally low-pitched voice	27286	SRPX2	ORPHA:163721
HP:0010300	Abnormally low-pitched voice	2903	GRIN2A	ORPHA:163721
HP:0010300	Abnormally low-pitched voice	7227	TRPS1	OMIM:190350
HP:0010300	Abnormally low-pitched voice	2146	EZH2	OMIM:277590
HP:0010300	Abnormally low-pitched voice	2146	EZH2	ORPHA:3447
HP:0010300	Abnormally low-pitched voice	64324	NSD1	ORPHA:3447
HP:0010300	Abnormally low-pitched voice	8726	EED	ORPHA:3447
HP:0010300	Abnormally low-pitched voice	23512	SUZ12	ORPHA:3447
HP:0010301	Spinal dysraphism	11198	SUPT16H	OMIM:619480
HP:0010301	Spinal dysraphism	4010	LMX1B	OMIM:161200
HP:0010301	Spinal dysraphism	284058	KANSL1	ORPHA:363965
HP:0010301	Spinal dysraphism	284058	KANSL1	ORPHA:363958
HP:0010301	Spinal dysraphism	6628	SNRPB	ORPHA:1393
HP:0010301	Spinal dysraphism	2187	FANCB	ORPHA:3412
HP:0010301	Spinal dysraphism	2187	FANCB	ORPHA:84
HP:0010301	Spinal dysraphism	5077	PAX3	ORPHA:894
HP:0010301	Spinal dysraphism	5077	PAX3	OMIM:193500
HP:0010301	Spinal dysraphism	4763	NF1	OMIM:162200
HP:0010301	Spinal dysraphism	672	BRCA1	ORPHA:84
HP:0010301	Spinal dysraphism	10459	MAD2L2	ORPHA:84
HP:0010301	Spinal dysraphism	7516	XRCC2	ORPHA:84
HP:0010301	Spinal dysraphism	29089	UBE2T	ORPHA:84
HP:0010301	Spinal dysraphism	675	BRCA2	ORPHA:84
HP:0010301	Spinal dysraphism	55120	FANCL	ORPHA:84
HP:0010301	Spinal dysraphism	2177	FANCD2	ORPHA:84
HP:0010301	Spinal dysraphism	2175	FANCA	ORPHA:84
HP:0010301	Spinal dysraphism	2176	FANCC	ORPHA:84
HP:0010301	Spinal dysraphism	2178	FANCE	ORPHA:84
HP:0010301	Spinal dysraphism	2188	FANCF	ORPHA:84
HP:0010301	Spinal dysraphism	2189	FANCG	ORPHA:84
HP:0010301	Spinal dysraphism	5888	RAD51	ORPHA:84
HP:0010301	Spinal dysraphism	5889	RAD51C	ORPHA:84
HP:0010301	Spinal dysraphism	55159	RFWD3	ORPHA:84
HP:0010301	Spinal dysraphism	83990	BRIP1	ORPHA:84
HP:0010301	Spinal dysraphism	57697	FANCM	ORPHA:84
HP:0010301	Spinal dysraphism	79728	PALB2	ORPHA:84
HP:0010301	Spinal dysraphism	84464	SLX4	ORPHA:84
HP:0010301	Spinal dysraphism	2072	ERCC4	ORPHA:84
HP:0010301	Spinal dysraphism	55215	FANCI	ORPHA:84
HP:0010301	Spinal dysraphism	9939	RBM8A	OMIM:274000
HP:0010301	Spinal dysraphism	1312	COMT	ORPHA:567
HP:0010301	Spinal dysraphism	221037	JMJD1C	ORPHA:567
HP:0010301	Spinal dysraphism	2812	GP1BB	ORPHA:567
HP:0010301	Spinal dysraphism	6239	RREB1	ORPHA:567
HP:0010301	Spinal dysraphism	6899	TBX1	ORPHA:567
HP:0010301	Spinal dysraphism	7290	HIRA	ORPHA:567
HP:0010301	Spinal dysraphism	9632	SEC24C	ORPHA:567
HP:0010301	Spinal dysraphism	7353	UFD1	ORPHA:567
HP:0010301	Spinal dysraphism	421	ARVCF	ORPHA:567
HP:0010301	Spinal dysraphism	3265	HRAS	ORPHA:2874
HP:0010301	Spinal dysraphism	9573	GDF3	ORPHA:2345
HP:0010301	Spinal dysraphism	392255	GDF6	ORPHA:2345
HP:0010301	Spinal dysraphism	4222	MEOX1	ORPHA:2345
HP:0010301	Spinal dysraphism	29968	PSAT1	OMIM:616038
HP:0010301	Spinal dysraphism	55521	TRIM36	OMIM:206500
HP:0010301	Spinal dysraphism	2313	FLI1	ORPHA:2308
HP:0010301	Spinal dysraphism	60386	SLC25A19	ORPHA:99742
HP:0010301	Spinal dysraphism	26227	PHGDH	OMIM:256520
HP:0010301	Spinal dysraphism	5727	PTCH1	OMIM:109400
HP:0010301	Spinal dysraphism	57167	SALL4	ORPHA:233
HP:0010301	Spinal dysraphism	57167	SALL4	OMIM:607323
HP:0010301	Spinal dysraphism	9935	MAFB	ORPHA:233
HP:0010301	Spinal dysraphism	1123	CHN1	ORPHA:233
HP:0010301	Spinal dysraphism	6095	RORA	OMIM:618060
HP:0010301	Spinal dysraphism	3981	LIG4	ORPHA:235
HP:0010301	Spinal dysraphism	54888	NSUN2	ORPHA:235
HP:0010301	Spinal dysraphism	64840	PORCN	OMIM:305600
HP:0010301	Spinal dysraphism	9791	PTDSS1	OMIM:151050
HP:0010301	Spinal dysraphism	9158	FIBP	ORPHA:500095
HP:0010301	Spinal dysraphism	1387	CREBBP	OMIM:180849
HP:0010301	Spinal dysraphism	2033	EP300	OMIM:180849
HP:0010301	Spinal dysraphism	7148	TNXB	ORPHA:230839
HP:0010301	Spinal dysraphism	92002	CCNQ	OMIM:300707
HP:0010301	Spinal dysraphism	5648	MASP1	OMIM:257920
HP:0010301	Spinal dysraphism	5648	MASP1	ORPHA:293843
HP:0010301	Spinal dysraphism	91754	NEK9	ORPHA:64754
HP:0010301	Spinal dysraphism	60	ACTB	ORPHA:64755
HP:0010301	Spinal dysraphism	6804	STX1A	ORPHA:904
HP:0010301	Spinal dysraphism	7461	CLIP2	ORPHA:904
HP:0010301	Spinal dysraphism	84277	DNAJC30	ORPHA:904
HP:0010301	Spinal dysraphism	8468	FKBP6	ORPHA:904
HP:0010301	Spinal dysraphism	5982	RFC2	ORPHA:904
HP:0010301	Spinal dysraphism	2969	GTF2I	ORPHA:904
HP:0010301	Spinal dysraphism	3984	LIMK1	ORPHA:904
HP:0010301	Spinal dysraphism	9569	GTF2IRD1	ORPHA:904
HP:0010301	Spinal dysraphism	155382	VPS37D	ORPHA:904
HP:0010301	Spinal dysraphism	155368	METTL27	ORPHA:904
HP:0010301	Spinal dysraphism	114049	BUD23	ORPHA:904
HP:0010301	Spinal dysraphism	7458	EIF4H	ORPHA:904
HP:0010301	Spinal dysraphism	84163	GTF2IRD2	ORPHA:904
HP:0010301	Spinal dysraphism	9275	BCL7B	ORPHA:904
HP:0010301	Spinal dysraphism	26608	TBL2	ORPHA:904
HP:0010301	Spinal dysraphism	653361	NCF1	ORPHA:904
HP:0010301	Spinal dysraphism	135886	TMEM270	ORPHA:904
HP:0010301	Spinal dysraphism	51085	MLXIPL	ORPHA:904
HP:0010301	Spinal dysraphism	9031	BAZ1B	ORPHA:904
HP:0010301	Spinal dysraphism	2006	ELN	ORPHA:904
HP:0010301	Spinal dysraphism	145173	B3GLCT	ORPHA:709
HP:0010301	Spinal dysraphism	7545	ZIC1	OMIM:616602
HP:0010301	Spinal dysraphism	7545	ZIC1	OMIM:618736
HP:0010301	Spinal dysraphism	57216	VANGL2	OMIM:182940
HP:0010301	Spinal dysraphism	6347	CCL2	OMIM:182940
HP:0010301	Spinal dysraphism	81839	VANGL1	OMIM:182940
HP:0010301	Spinal dysraphism	6862	TBXT	OMIM:182940
HP:0010301	Spinal dysraphism	80199	FUZ	OMIM:182940
HP:0010301	Spinal dysraphism	5781	PTPN11	ORPHA:500
HP:0010301	Spinal dysraphism	5781	PTPN11	OMIM:151100
HP:0010301	Spinal dysraphism	673	BRAF	ORPHA:500
HP:0010301	Spinal dysraphism	5894	RAF1	ORPHA:500
HP:0010301	Spinal dysraphism	526	ATP6V1B2	ORPHA:79500
HP:0010301	Spinal dysraphism	57465	TBC1D24	ORPHA:79500
HP:0010301	Spinal dysraphism	80781	COL18A1	OMIM:267750
HP:0010301	Spinal dysraphism	8517	IKBKG	ORPHA:464
HP:0010301	Spinal dysraphism	1615	DARS1	OMIM:615281
HP:0010301	Spinal dysraphism	51715	RAB23	OMIM:201000
HP:0010301	Spinal dysraphism	51339	DACT1	OMIM:617466
HP:0010301	Spinal dysraphism	3664	IRF6	OMIM:119500
HP:0010301	Spinal dysraphism	6911	TBX6	ORPHA:1797
HP:0010301	Spinal dysraphism	100996717	NOTCH2NLC	ORPHA:2289
HP:0010301	Spinal dysraphism	139285	AMER1	OMIM:300373
HP:0010301	Spinal dysraphism	139285	AMER1	ORPHA:2780
HP:0010301	Spinal dysraphism	4621	MYH3	OMIM:193700
HP:0010301	Spinal dysraphism	4621	MYH3	ORPHA:2990
HP:0010301	Spinal dysraphism	57492	ARID1B	OMIM:135900
HP:0010301	Spinal dysraphism	3756	KCNH1	OMIM:135500
HP:0010301	Spinal dysraphism	650	BMP2	OMIM:617877
HP:0010301	Spinal dysraphism	134701	RIPPLY2	ORPHA:2311
HP:0010301	Spinal dysraphism	10683	DLL3	ORPHA:2311
HP:0010301	Spinal dysraphism	3955	LFNG	ORPHA:2311
HP:0010301	Spinal dysraphism	84667	HES7	ORPHA:2311
HP:0010301	Spinal dysraphism	84667	HES7	OMIM:613686
HP:0010301	Spinal dysraphism	145873	MESP2	ORPHA:2311
HP:0010301	Spinal dysraphism	10584	COLEC10	ORPHA:293843
HP:0010301	Spinal dysraphism	78989	COLEC11	ORPHA:293843
HP:0010301	Spinal dysraphism	9820	CUL7	OMIM:273750
HP:0010301	Spinal dysraphism	2316	FLNA	ORPHA:1826
HP:0010301	Spinal dysraphism	6885	MAP3K7	ORPHA:1826
HP:0010301	Spinal dysraphism	1146	CHRNG	ORPHA:2990
HP:0010301	Spinal dysraphism	3166	HMX1	OMIM:612109
HP:0010301	Spinal dysraphism	147372	CCBE1	OMIM:235510
HP:0010301	Spinal dysraphism	6223	RPS19	OMIM:105650
HP:0010301	Spinal dysraphism	23299	BICD2	OMIM:618291
HP:0010301	Spinal dysraphism	22827	PUF60	ORPHA:508488
HP:0010301	Spinal dysraphism	9401	RECQL4	OMIM:218600
HP:0010301	Spinal dysraphism	5422	POLA1	OMIM:301030
HP:0010301	Spinal dysraphism	2317	FLNB	OMIM:150250
HP:0010301	Spinal dysraphism	8621	CDK13	OMIM:617360
HP:0010301	Spinal dysraphism	860	RUNX2	ORPHA:1452
HP:0010301	Spinal dysraphism	51729	WBP11	OMIM:619227
HP:0010301	Spinal dysraphism	5290	PIK3CA	OMIM:612918
HP:0010301	Spinal dysraphism	4548	MTR	OMIM:601634
HP:0010301	Spinal dysraphism	4552	MTRR	OMIM:601634
HP:0010301	Spinal dysraphism	4524	MTHFR	OMIM:601634
HP:0010301	Spinal dysraphism	4522	MTHFD1	OMIM:601634
HP:0010301	Spinal dysraphism	3835	KIF22	OMIM:603546
HP:0010301	Spinal dysraphism	6023	RMRP	ORPHA:175
HP:0010301	Spinal dysraphism	23498	HAAO	OMIM:617660
HP:0010301	Spinal dysraphism	9790	BMS1	ORPHA:1114
HP:0010301	Spinal dysraphism	5339	PLEC	ORPHA:1114
HP:0010301	Spinal dysraphism	10054	UBA2	ORPHA:1114
HP:0010301	Spinal dysraphism	3691	ITGB4	ORPHA:1114
HP:0010301	Spinal dysraphism	54567	DLL4	ORPHA:1114
HP:0010301	Spinal dysraphism	6662	SOX9	OMIM:114290
HP:0010301	Spinal dysraphism	388015	RTL1	ORPHA:96334
HP:0010301	Spinal dysraphism	8788	DLK1	ORPHA:96334
HP:0010301	Spinal dysraphism	55384	MEG3	ORPHA:96334
HP:0010303	Abnormal spinal meningeal morphology	2303	FOXC2	ORPHA:33001
HP:0010303	Abnormal spinal meningeal morphology	4088	SMAD3	ORPHA:284984
HP:0010303	Abnormal spinal meningeal morphology	4088	SMAD3	OMIM:613795
HP:0010303	Abnormal spinal meningeal morphology	4088	SMAD3	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	284058	KANSL1	ORPHA:363965
HP:0010303	Abnormal spinal meningeal morphology	284058	KANSL1	ORPHA:363958
HP:0010303	Abnormal spinal meningeal morphology	4854	NOTCH3	OMIM:130720
HP:0010303	Abnormal spinal meningeal morphology	4854	NOTCH3	ORPHA:2789
HP:0010303	Abnormal spinal meningeal morphology	2200	FBN1	OMIM:604308
HP:0010303	Abnormal spinal meningeal morphology	2200	FBN1	OMIM:154700
HP:0010303	Abnormal spinal meningeal morphology	2200	FBN1	OMIM:616914
HP:0010303	Abnormal spinal meningeal morphology	2200	FBN1	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4015	LOX	OMIM:617168
HP:0010303	Abnormal spinal meningeal morphology	4015	LOX	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	8076	MFAP5	OMIM:616166
HP:0010303	Abnormal spinal meningeal morphology	8076	MFAP5	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	7048	TGFBR2	OMIM:610168
HP:0010303	Abnormal spinal meningeal morphology	7048	TGFBR2	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	5921	RASA1	ORPHA:90307
HP:0010303	Abnormal spinal meningeal morphology	7042	TGFB2	OMIM:614816
HP:0010303	Abnormal spinal meningeal morphology	7042	TGFB2	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4763	NF1	ORPHA:97685
HP:0010303	Abnormal spinal meningeal morphology	4629	MYH11	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	7046	TGFBR1	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4087	SMAD2	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	7043	TGFB3	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4089	SMAD4	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	59	ACTA2	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	5592	PRKG1	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	2301	FOXE3	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4144	MAT2A	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	23493	HEY2	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	4638	MYLK	ORPHA:91387
HP:0010303	Abnormal spinal meningeal morphology	2006	ELN	ORPHA:91387
HP:0010305	Absence of the sacrum	5745	PTH1R	ORPHA:79106
HP:0010305	Absence of the sacrum	81839	VANGL1	OMIM:600145
HP:0010305	Absence of the sacrum	81839	VANGL1	OMIM:182940
HP:0010305	Absence of the sacrum	7547	ZIC3	OMIM:306955
HP:0010305	Absence of the sacrum	23498	HAAO	OMIM:617660
HP:0010305	Absence of the sacrum	3110	MNX1	OMIM:176450
HP:0010305	Absence of the sacrum	57216	VANGL2	OMIM:182940
HP:0010305	Absence of the sacrum	6347	CCL2	OMIM:182940
HP:0010305	Absence of the sacrum	6862	TBXT	OMIM:182940
HP:0010305	Absence of the sacrum	6862	TBXT	OMIM:615709
HP:0010305	Absence of the sacrum	80199	FUZ	OMIM:182940
HP:0010305	Absence of the sacrum	4838	NODAL	OMIM:270100
HP:0010305	Absence of the sacrum	2187	FANCB	ORPHA:3412
HP:0010306	Short thorax	55112	DYNC2I1	ORPHA:474
HP:0010306	Short thorax	55112	DYNC2I1	ORPHA:93271
HP:0010306	Short thorax	26160	IFT172	ORPHA:474
HP:0010306	Short thorax	153241	CEP120	ORPHA:474
HP:0010306	Short thorax	57560	IFT80	ORPHA:474
HP:0010306	Short thorax	57560	IFT80	ORPHA:93271
HP:0010306	Short thorax	51626	DYNC2LI1	ORPHA:474
HP:0010306	Short thorax	51626	DYNC2LI1	ORPHA:289
HP:0010306	Short thorax	79659	DYNC2H1	ORPHA:474
HP:0010306	Short thorax	79659	DYNC2H1	ORPHA:93271
HP:0010306	Short thorax	9742	IFT140	ORPHA:474
HP:0010306	Short thorax	9742	IFT140	OMIM:266920
HP:0010306	Short thorax	57728	WDR19	ORPHA:474
HP:0010306	Short thorax	89891	DYNC2I2	ORPHA:474
HP:0010306	Short thorax	89891	DYNC2I2	ORPHA:93271
HP:0010306	Short thorax	79809	TTC21B	ORPHA:474
HP:0010306	Short thorax	176	ACAN	ORPHA:93283
HP:0010306	Short thorax	55699	IARS2	OMIM:616007
HP:0010306	Short thorax	9820	CUL7	ORPHA:2616
HP:0010306	Short thorax	9820	CUL7	OMIM:273750
HP:0010306	Short thorax	23363	OBSL1	ORPHA:2616
HP:0010306	Short thorax	23363	OBSL1	OMIM:612921
HP:0010306	Short thorax	83987	CCDC8	ORPHA:2616
HP:0010306	Short thorax	83987	CCDC8	OMIM:614205
HP:0010306	Short thorax	6513	SLC2A1	ORPHA:168577
HP:0010306	Short thorax	2261	FGFR3	ORPHA:93274
HP:0010306	Short thorax	57539	WDR35	ORPHA:93271
HP:0010306	Short thorax	51098	IFT52	OMIM:617102
HP:0010306	Short thorax	6911	TBX6	ORPHA:1797
HP:0010306	Short thorax	341640	FREM2	OMIM:617666
HP:0010306	Short thorax	59341	TRPV4	ORPHA:93304
HP:0010306	Short thorax	2316	FLNA	ORPHA:2484
HP:0010306	Short thorax	2316	FLNA	ORPHA:88630
HP:0010306	Short thorax	4758	NEU1	ORPHA:812
HP:0010306	Short thorax	55777	MBD5	OMIM:156200
HP:0010306	Short thorax	9321	TRIP11	OMIM:200600
HP:0010306	Short thorax	9321	TRIP11	ORPHA:93299
HP:0010306	Short thorax	6023	RMRP	ORPHA:175
HP:0010306	Short thorax	3549	IHH	ORPHA:63446
HP:0010306	Short thorax	4052	LTBP1	OMIM:619451
HP:0010306	Short thorax	84068	SLC10A7	OMIM:618363
HP:0010306	Short thorax	134701	RIPPLY2	ORPHA:2311
HP:0010306	Short thorax	10683	DLL3	ORPHA:2311
HP:0010306	Short thorax	3955	LFNG	ORPHA:2311
HP:0010306	Short thorax	84667	HES7	ORPHA:2311
HP:0010306	Short thorax	84667	HES7	OMIM:613686
HP:0010306	Short thorax	145873	MESP2	ORPHA:2311
HP:0010306	Short thorax	1280	COL2A1	ORPHA:85166
HP:0010306	Short thorax	1280	COL2A1	ORPHA:485
HP:0010306	Short thorax	168667	BMPER	ORPHA:66637
HP:0010306	Short thorax	55191	NADSYN1	OMIM:618845
HP:0010306	Short thorax	1836	SLC26A2	ORPHA:93298
HP:0010306	Short thorax	55764	IFT122	OMIM:218330
HP:0010306	Short thorax	5566	PRKACA	ORPHA:289
HP:0010306	Short thorax	5567	PRKACB	ORPHA:289
HP:0010306	Short thorax	2735	GLI1	ORPHA:289
HP:0010306	Short thorax	2121	EVC	ORPHA:289
HP:0010306	Short thorax	132884	EVC2	ORPHA:289
HP:0010306	Short thorax	5745	PTH1R	ORPHA:50945
HP:0010306	Short thorax	23594	ORC6	OMIM:613803
HP:0010306	Short thorax	54808	DYM	ORPHA:239
HP:0010307	Stridor	3835	KIF22	ORPHA:93360
HP:0010307	Stridor	11340	EXOSC8	ORPHA:2254
HP:0010307	Stridor	5393	EXOSC9	ORPHA:2254
HP:0010307	Stridor	23287	AGTPBP1	ORPHA:2254
HP:0010307	Stridor	51010	EXOSC3	ORPHA:2254
HP:0010307	Stridor	7443	VRK1	ORPHA:2254
HP:0010307	Stridor	91137	SLC25A46	ORPHA:2254
HP:0010307	Stridor	5354	PLP1	OMIM:312080
HP:0010307	Stridor	23114	NFASC	OMIM:618356
HP:0010307	Stridor	80199	FUZ	ORPHA:1136
HP:0010307	Stridor	406932	MIR140	OMIM:618618
HP:0010307	Stridor	9997	SCO2	OMIM:604377
HP:0010307	Stridor	6329	SCN4A	OMIM:168300
HP:0010307	Stridor	728294	D2HGDH	OMIM:600721
HP:0010307	Stridor	710	SERPING1	ORPHA:100050
HP:0010307	Stridor	3508	IGHMBP2	OMIM:604320
HP:0010307	Stridor	113278	SLC52A3	OMIM:211500
HP:0010307	Stridor	79158	GNPTAB	ORPHA:576
HP:0010307	Stridor	4784	NFIX	OMIM:602535
HP:0010307	Stridor	2316	FLNA	OMIM:305620
HP:0010307	Stridor	65082	VPS33A	ORPHA:505248
HP:0010307	Stridor	57128	LYRM4	OMIM:615595
HP:0010307	Stridor	182	JAG1	OMIM:619574
HP:0010307	Stridor	59341	TRPV4	OMIM:606071
HP:0010307	Stridor	59341	TRPV4	OMIM:181405
HP:0010307	Stridor	6885	MAP3K7	OMIM:617137
HP:0010307	Stridor	775	CACNA1C	OMIM:620029
HP:0010307	Stridor	27235	COQ2	ORPHA:227510
HP:0010307	Stridor	27235	COQ2	ORPHA:98933
HP:0010307	Stridor	6571	SLC18A2	ORPHA:352649
HP:0010307	Stridor	3909	LAMA3	ORPHA:79404
HP:0010307	Stridor	3918	LAMC2	ORPHA:79404
HP:0010307	Stridor	3914	LAMB3	ORPHA:79404
HP:0010307	Stridor	1513	CTSK	ORPHA:763
HP:0010307	Stridor	7849	PAX8	OMIM:218700
HP:0010307	Stridor	7259	TSPYL1	OMIM:608800
HP:0010307	Stridor	2629	GBA1	OMIM:230900
HP:0010307	Stridor	60482	SLC5A7	OMIM:617143
HP:0010307	Stridor	60482	SLC5A7	ORPHA:98914
HP:0010307	Stridor	6576	SLC25A1	OMIM:615182
HP:0010307	Stridor	6576	SLC25A1	ORPHA:98914
HP:0010307	Stridor	91179	SCARF2	OMIM:600920
HP:0010307	Stridor	667	DST	OMIM:614653
HP:0010307	Stridor	4281	MID1	ORPHA:2745
HP:0010307	Stridor	2782	GNB1	OMIM:616973
HP:0010307	Stridor	4649	MYO9A	ORPHA:98914
HP:0010307	Stridor	1305	COL13A1	ORPHA:98914
HP:0010307	Stridor	1103	CHAT	ORPHA:98914
HP:0010307	Stridor	6843	VAMP1	ORPHA:98914
HP:0010307	Stridor	375790	AGRN	ORPHA:98914
HP:0010307	Stridor	127833	SYT2	ORPHA:98914
HP:0010307	Stridor	6572	SLC18A3	ORPHA:98914
HP:0010307	Stridor	6616	SNAP25	ORPHA:98914
HP:0010307	Stridor	6662	SOX9	OMIM:114290
HP:0010307	Stridor	84705	GTPBP3	ORPHA:444013
HP:0010309	Bifid sternum	6197	RPS6KA3	OMIM:303600
HP:0010309	Bifid sternum	51339	DACT1	ORPHA:63260
HP:0030731	Carcinoma	22861	NLRP1	OMIM:615225
HP:0030731	Carcinoma	5728	PTEN	OMIM:158350
HP:0030731	Carcinoma	324	APC	OMIM:175100
HP:0030731	Carcinoma	284654	RSPO1	OMIM:610644
HP:0030731	Carcinoma	1027	CDKN1B	OMIM:610755
HP:0030731	Carcinoma	1736	DKC1	OMIM:305000
HP:0030731	Carcinoma	5426	POLE	OMIM:615083
HP:0030736	Sacrococcygeal teratoma	3110	MNX1	OMIM:176450
HP:0030736	Sacrococcygeal teratoma	26040	SETBP1	OMIM:269150
HP:0030736	Sacrococcygeal teratoma	26040	SETBP1	ORPHA:798
HP:0030736	Sacrococcygeal teratoma	64324	NSD1	ORPHA:821
HP:0030736	Sacrococcygeal teratoma	29072	SETD2	ORPHA:821
HP:0030736	Sacrococcygeal teratoma	10297	APC2	ORPHA:821
HP:0004890	Elevated pulmonary artery pressure	94	ACVRL1	OMIM:600376
HP:0004890	Elevated pulmonary artery pressure	94	ACVRL1	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	4702	NDUFA8	OMIM:619272
HP:0004890	Elevated pulmonary artery pressure	4352	MPL	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	7066	THPO	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	3717	JAK2	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	2294	FOXF1	OMIM:265380
HP:0004890	Elevated pulmonary artery pressure	2294	FOXF1	ORPHA:210122
HP:0004890	Elevated pulmonary artery pressure	4558	MT-TF	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4572	MT-TQ	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4512	MT-CO1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4513	MT-CO2	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4514	MT-CO3	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4578	MT-TW	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4540	MT-ND5	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4541	MT-ND6	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4535	MT-ND1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4538	MT-ND4	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4567	MT-TL1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4574	MT-TS1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4575	MT-TS2	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4564	MT-TH	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	7428	VHL	OMIM:263400
HP:0004890	Elevated pulmonary artery pressure	79717	PPCS	OMIM:618189
HP:0004890	Elevated pulmonary artery pressure	776	CACNA1D	OMIM:615474
HP:0004890	Elevated pulmonary artery pressure	776	CACNA1D	ORPHA:369929
HP:0004890	Elevated pulmonary artery pressure	498	ATP5F1A	OMIM:616045
HP:0004890	Elevated pulmonary artery pressure	775	CACNA1C	OMIM:620029
HP:0004890	Elevated pulmonary artery pressure	775	CACNA1C	OMIM:601005
HP:0004890	Elevated pulmonary artery pressure	81857	MED25	OMIM:616449
HP:0004890	Elevated pulmonary artery pressure	81857	MED25	ORPHA:464738
HP:0004890	Elevated pulmonary artery pressure	3875	KRT18	OMIM:215600
HP:0004890	Elevated pulmonary artery pressure	8854	ALDH1A2	OMIM:620025
HP:0004890	Elevated pulmonary artery pressure	1277	COL1A1	OMIM:259420
HP:0004890	Elevated pulmonary artery pressure	1278	COL1A2	OMIM:259420
HP:0004890	Elevated pulmonary artery pressure	1235	CCR6	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1235	CCR6	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	79932	KIAA0319L	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1490	CCN2	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1490	CCN2	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	3663	IRF5	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	3663	IRF5	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	3123	HLA-DRB1	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	3123	HLA-DRB1	OMIM:181000
HP:0004890	Elevated pulmonary artery pressure	3123	HLA-DRB1	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	411	ARSB	OMIM:253200
HP:0004890	Elevated pulmonary artery pressure	10312	TCIRG1	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	1186	CLCN7	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	29887	SNX10	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	8600	TNFSF11	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	27125	AFF4	ORPHA:444077
HP:0004890	Elevated pulmonary artery pressure	4784	NFIX	ORPHA:447980
HP:0004890	Elevated pulmonary artery pressure	4784	NFIX	OMIM:602535
HP:0004890	Elevated pulmonary artery pressure	55315	SLC29A3	OMIM:602782
HP:0004890	Elevated pulmonary artery pressure	1349	COX7B	OMIM:300887
HP:0004890	Elevated pulmonary artery pressure	23395	LARS2	OMIM:617021
HP:0004890	Elevated pulmonary artery pressure	6440	SFTPC	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	6440	SFTPC	OMIM:610913
HP:0004890	Elevated pulmonary artery pressure	727897	MUC5B	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	729238	SFTPA2	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	7015	TERT	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	51601	LIPT1	OMIM:616299
HP:0004890	Elevated pulmonary artery pressure	3908	LAMA2	ORPHA:258
HP:0004890	Elevated pulmonary artery pressure	9382	COG1	ORPHA:263508
HP:0004890	Elevated pulmonary artery pressure	6439	SFTPB	OMIM:265120
HP:0004890	Elevated pulmonary artery pressure	6439	SFTPB	ORPHA:217563
HP:0004890	Elevated pulmonary artery pressure	1340	COX6B1	OMIM:619051
HP:0004890	Elevated pulmonary artery pressure	2022	ENG	OMIM:187300
HP:0004890	Elevated pulmonary artery pressure	2022	ENG	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	65082	VPS33A	ORPHA:505248
HP:0004890	Elevated pulmonary artery pressure	1351	COX8A	OMIM:619059
HP:0004890	Elevated pulmonary artery pressure	50619	DEF6	OMIM:619573
HP:0004890	Elevated pulmonary artery pressure	79572	ATP13A3	OMIM:265400
HP:0004890	Elevated pulmonary artery pressure	8260	NAA10	OMIM:300855
HP:0004890	Elevated pulmonary artery pressure	9469	CHST3	OMIM:143095
HP:0004890	Elevated pulmonary artery pressure	9968	MED12	ORPHA:93932
HP:0004890	Elevated pulmonary artery pressure	92579	G6PC3	OMIM:612541
HP:0004890	Elevated pulmonary artery pressure	56244	BTNL2	OMIM:612387
HP:0004890	Elevated pulmonary artery pressure	2260	FGFR1	ORPHA:2396
HP:0004890	Elevated pulmonary artery pressure	3845	KRAS	ORPHA:2396
HP:0004890	Elevated pulmonary artery pressure	7080	NKX2-1	ORPHA:209905
HP:0004890	Elevated pulmonary artery pressure	55750	AGK	OMIM:212350
HP:0004890	Elevated pulmonary artery pressure	9377	COX5A	OMIM:619064
HP:0004890	Elevated pulmonary artery pressure	9496	TBX4	ORPHA:261279
HP:0004890	Elevated pulmonary artery pressure	9896	FIG4	ORPHA:3472
HP:0004890	Elevated pulmonary artery pressure	9896	FIG4	OMIM:216340
HP:0004890	Elevated pulmonary artery pressure	55697	VAC14	ORPHA:3472
HP:0004890	Elevated pulmonary artery pressure	3977	LIFR	OMIM:601559
HP:0004890	Elevated pulmonary artery pressure	659	BMPR2	OMIM:178600
HP:0004890	Elevated pulmonary artery pressure	659	BMPR2	OMIM:265450
HP:0004890	Elevated pulmonary artery pressure	5826	ABCD4	OMIM:614857
HP:0004890	Elevated pulmonary artery pressure	3425	IDUA	OMIM:607015
HP:0004890	Elevated pulmonary artery pressure	4763	NF1	ORPHA:97685
HP:0004890	Elevated pulmonary artery pressure	760	CA2	ORPHA:2785
HP:0004890	Elevated pulmonary artery pressure	10370	CITED2	ORPHA:99105
HP:0004890	Elevated pulmonary artery pressure	10370	CITED2	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	7092	TLL1	ORPHA:99106
HP:0004890	Elevated pulmonary artery pressure	7092	TLL1	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	57057	TBX20	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	4624	MYH6	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	1482	NKX2-5	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	70	ACTC1	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2626	GATA4	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2627	GATA6	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2627	GATA6	OMIM:614475
HP:0004890	Elevated pulmonary artery pressure	7840	ALMS1	ORPHA:64
HP:0004890	Elevated pulmonary artery pressure	6772	STAT1	ORPHA:391487
HP:0004890	Elevated pulmonary artery pressure	10043	TOM1	ORPHA:391487
HP:0004890	Elevated pulmonary artery pressure	3572	IL6ST	OMIM:619751
HP:0004890	Elevated pulmonary artery pressure	2261	FGFR3	OMIM:616482
HP:0004890	Elevated pulmonary artery pressure	10664	CTCF	ORPHA:363611
HP:0004890	Elevated pulmonary artery pressure	10526	IPO8	OMIM:619472
HP:0004890	Elevated pulmonary artery pressure	5167	ENPP1	ORPHA:51608
HP:0004890	Elevated pulmonary artery pressure	368	ABCC6	ORPHA:51608
HP:0004890	Elevated pulmonary artery pressure	2200	FBN1	OMIM:614185
HP:0004890	Elevated pulmonary artery pressure	4607	MYBPC3	OMIM:615396
HP:0004890	Elevated pulmonary artery pressure	7414	VCL	OMIM:613255
HP:0004890	Elevated pulmonary artery pressure	29957	SLC25A24	OMIM:612289
HP:0004890	Elevated pulmonary artery pressure	57514	ARHGAP31	OMIM:100300
HP:0004890	Elevated pulmonary artery pressure	57514	ARHGAP31	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	8085	KMT2D	OMIM:620186
HP:0004890	Elevated pulmonary artery pressure	8517	IKBKG	ORPHA:464
HP:0004890	Elevated pulmonary artery pressure	4000	LMNA	ORPHA:740
HP:0004890	Elevated pulmonary artery pressure	10269	ZMPSTE24	ORPHA:740
HP:0004890	Elevated pulmonary artery pressure	23556	PIGN	ORPHA:280633
HP:0004890	Elevated pulmonary artery pressure	3043	HBB	ORPHA:231222
HP:0004890	Elevated pulmonary artery pressure	4716	NDUFB10	OMIM:619003
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	OMIM:230800
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:2072
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:77261
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:77259
HP:0004890	Elevated pulmonary artery pressure	374879	ZNF699	OMIM:619488
HP:0004890	Elevated pulmonary artery pressure	27086	FOXP1	ORPHA:391372
HP:0004890	Elevated pulmonary artery pressure	4256	MGP	ORPHA:85202
HP:0004890	Elevated pulmonary artery pressure	50485	SMARCAL1	ORPHA:1830
HP:0004890	Elevated pulmonary artery pressure	50485	SMARCAL1	OMIM:242900
HP:0004890	Elevated pulmonary artery pressure	8292	COLQ	ORPHA:98915
HP:0004890	Elevated pulmonary artery pressure	3913	LAMB2	ORPHA:98915
HP:0004890	Elevated pulmonary artery pressure	4625	MYH7	OMIM:613426
HP:0004890	Elevated pulmonary artery pressure	388015	RTL1	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	8788	DLK1	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	55384	MEG3	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	10551	AGR2	OMIM:620233
HP:0004890	Elevated pulmonary artery pressure	3516	RBPJ	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	4851	NOTCH1	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	4851	NOTCH1	OMIM:616028
HP:0004890	Elevated pulmonary artery pressure	57572	DOCK6	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	285203	EOGT	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	54567	DLL4	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	2658	GDF2	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	4089	SMAD4	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	6123	RPL3L	OMIM:619371
HP:0004890	Elevated pulmonary artery pressure	79989	IFT56	OMIM:619534
HP:0004890	Elevated pulmonary artery pressure	8815	BANF1	OMIM:614008
HP:0004890	Elevated pulmonary artery pressure	5236	PGM1	OMIM:614921
HP:0004890	Elevated pulmonary artery pressure	25974	MMACHC	ORPHA:79282
HP:0004890	Elevated pulmonary artery pressure	5557	PRIM1	OMIM:620005
HP:0004890	Elevated pulmonary artery pressure	59	ACTA2	OMIM:613834
HP:0004890	Elevated pulmonary artery pressure	3593	IL12B	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	3106	HLA-B	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	6945	MLX	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	64127	NOD2	ORPHA:90340
HP:0004890	Elevated pulmonary artery pressure	55901	THSD1	OMIM:620244
HP:0004890	Elevated pulmonary artery pressure	3339	HSPG2	ORPHA:800
HP:0004890	Elevated pulmonary artery pressure	2542	SLC37A4	OMIM:232240
HP:0004890	Elevated pulmonary artery pressure	27247	NFU1	OMIM:605711
HP:0004890	Elevated pulmonary artery pressure	8295	TRRAP	OMIM:618454
HP:0004890	Elevated pulmonary artery pressure	93233	ODAD1	OMIM:615067
HP:0004890	Elevated pulmonary artery pressure	4093	SMAD9	OMIM:615342
HP:0004890	Elevated pulmonary artery pressure	51025	PAM16	OMIM:613320
HP:0004890	Elevated pulmonary artery pressure	2316	FLNA	OMIM:309350
HP:0004890	Elevated pulmonary artery pressure	23590	PDSS1	OMIM:614651
HP:0004890	Elevated pulmonary artery pressure	7319	UBE2A	ORPHA:163956
HP:0004890	Elevated pulmonary artery pressure	54938	SARS2	OMIM:613845
HP:0004890	Elevated pulmonary artery pressure	389827	MYMK	OMIM:254940
HP:0004890	Elevated pulmonary artery pressure	950	SCARB2	ORPHA:77259
HP:0004890	Elevated pulmonary artery pressure	3777	KCNK3	OMIM:615344
HP:0004890	Elevated pulmonary artery pressure	440275	EIF2AK4	ORPHA:199241
HP:0004890	Elevated pulmonary artery pressure	4629	MYH11	OMIM:619351
HP:0004890	Elevated pulmonary artery pressure	857	CAV1	OMIM:615343
HP:0004891	Recurrent infections due to aspiration	8518	ELP1	OMIM:223900
HP:0004891	Recurrent infections due to aspiration	57731	SPTBN4	OMIM:617519
HP:0004894	Laryngotracheal stenosis	2137	EXTL3	ORPHA:508533
HP:0004894	Laryngotracheal stenosis	1836	SLC26A2	OMIM:222600
HP:0004894	Laryngotracheal stenosis	4089	SMAD4	OMIM:139210
HP:0004894	Laryngotracheal stenosis	2317	FLNB	ORPHA:1190
HP:0004897	Stress/infection-induced lactic acidosis	133686	NADK2	ORPHA:431361
HP:0004897	Stress/infection-induced lactic acidosis	7386	UQCRFS1	OMIM:618775
HP:0004897	Stress/infection-induced lactic acidosis	6389	SDHA	OMIM:252011
HP:0004898	Persistent lactic acidosis	10128	LRPPRC	OMIM:220111
HP:0004925	Chronic lactic acidosis	617	BCS1L	OMIM:603358
HP:0004925	Chronic lactic acidosis	5160	PDHA1	OMIM:312170
HP:0030744	Hyaloid vascular remnant and retrolental mass	4693	NDP	ORPHA:91495
HP:0030744	Hyaloid vascular remnant and retrolental mass	220202	ATOH7	ORPHA:91495
HP:0030744	Hyaloid vascular remnant and retrolental mass	8322	FZD4	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	4693	NDP	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	220202	ATOH7	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	8322	FZD4	ORPHA:91495
HP:0010310	Chylothorax	199857	ALG14	OMIM:619036
HP:0010310	Chylothorax	2050	EPHB4	OMIM:617300
HP:0010310	Chylothorax	2050	EPHB4	ORPHA:137667
HP:0010310	Chylothorax	2303	FOXC2	OMIM:153400
HP:0010310	Chylothorax	9780	PIEZO1	OMIM:616843
HP:0010310	Chylothorax	867	CBL	OMIM:613563
HP:0010310	Chylothorax	3832	KIF11	ORPHA:2526
HP:0010310	Chylothorax	9508	ADAMTS3	ORPHA:2136
HP:0010310	Chylothorax	147372	CCBE1	ORPHA:2136
HP:0010310	Chylothorax	79633	FAT4	ORPHA:2136
HP:0010310	Chylothorax	5921	RASA1	ORPHA:137667
HP:0010310	Chylothorax	7248	TSC1	ORPHA:538
HP:0010310	Chylothorax	7249	TSC2	ORPHA:538
HP:0010310	Chylothorax	56244	BTNL2	ORPHA:797
HP:0010310	Chylothorax	3123	HLA-DRB1	ORPHA:797
HP:0010310	Chylothorax	5604	MAP2K1	OMIM:163950
HP:0010310	Chylothorax	5781	PTPN11	OMIM:163950
HP:0010310	Chylothorax	673	BRAF	OMIM:163950
HP:0010311	Aplasia/Hypoplasia of the breasts	2099	ESR1	ORPHA:785
HP:0010311	Aplasia/Hypoplasia of the breasts	2260	FGFR1	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	2260	FGFR1	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	81848	SPRY4	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	81848	SPRY4	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	128674	PROKR2	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	128674	PROKR2	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	2253	FGF8	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	2253	FGF8	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	60675	PROK2	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	60675	PROK2	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	55636	CHD7	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	55636	CHD7	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	6870	TACR3	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	6870	TACR3	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	1848	DUSP6	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	1848	DUSP6	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	26012	NSMF	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	55717	WDR11	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	55717	WDR11	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	9394	HS6ST1	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	9394	HS6ST1	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	2796	GNRH1	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	2798	GNRHR	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	84634	KISS1R	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	6866	TAC3	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	8822	FGF17	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	8822	FGF17	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	3814	KISS1	ORPHA:432
HP:0010311	Aplasia/Hypoplasia of the breasts	7528	YY1	ORPHA:506358
HP:0010311	Aplasia/Hypoplasia of the breasts	1947	EFNB1	OMIM:304110
HP:0010311	Aplasia/Hypoplasia of the breasts	6926	TBX3	OMIM:181450
HP:0010311	Aplasia/Hypoplasia of the breasts	4094	MAF	ORPHA:1272
HP:0010311	Aplasia/Hypoplasia of the breasts	4998	ORC1	OMIM:224690
HP:0010311	Aplasia/Hypoplasia of the breasts	84168	ANTXR1	OMIM:230740
HP:0010311	Aplasia/Hypoplasia of the breasts	5000	ORC4	OMIM:613800
HP:0010311	Aplasia/Hypoplasia of the breasts	8517	IKBKG	OMIM:308300
HP:0010311	Aplasia/Hypoplasia of the breasts	8626	TP63	ORPHA:978
HP:0010311	Aplasia/Hypoplasia of the breasts	8626	TP63	OMIM:103285
HP:0010311	Aplasia/Hypoplasia of the breasts	25886	POC1A	OMIM:614813
HP:0010311	Aplasia/Hypoplasia of the breasts	81620	CDT1	OMIM:613804
HP:0010311	Aplasia/Hypoplasia of the breasts	23594	ORC6	OMIM:613803
HP:0010311	Aplasia/Hypoplasia of the breasts	10371	SEMA3A	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	23767	FLRT3	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	79625	NDNF	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	389549	FEZF1	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	1630	DCC	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	3730	ANOS1	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	54756	IL17RD	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	6663	SOX10	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	285025	CCDC141	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	8820	HESX1	ORPHA:478
HP:0010311	Aplasia/Hypoplasia of the breasts	117581	TWIST2	ORPHA:920
HP:0010311	Aplasia/Hypoplasia of the breasts	29893	PSMC3IP	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	171568	POLR3H	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	2516	NR5A1	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	125150	ZSWIM7	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	9210	BMP15	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	57122	NUP107	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	23514	SPIDR	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	2492	FSHR	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	56945	MRPS22	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	646	BNC1	ORPHA:243
HP:0010311	Aplasia/Hypoplasia of the breasts	60	ACTB	ORPHA:64755
HP:0010311	Aplasia/Hypoplasia of the breasts	5626	PROP1	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	5626	PROP1	ORPHA:90695
HP:0010311	Aplasia/Hypoplasia of the breasts	2736	GLI2	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	89884	LHX4	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	3170	FOXA2	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	5449	POU1F1	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	5015	OTX2	ORPHA:95494
HP:0010311	Aplasia/Hypoplasia of the breasts	6658	SOX3	ORPHA:90695
HP:0010311	Aplasia/Hypoplasia of the breasts	8239	USP9X	OMIM:300968
HP:0010311	Aplasia/Hypoplasia of the breasts	2488	FSHB	ORPHA:52901
HP:0010311	Aplasia/Hypoplasia of the breasts	51199	NIN	ORPHA:319675
HP:0010311	Aplasia/Hypoplasia of the breasts	284252	KCTD1	OMIM:181270
HP:0010311	Aplasia/Hypoplasia of the breasts	284252	KCTD1	ORPHA:2036
HP:0010311	Aplasia/Hypoplasia of the breasts	5980	REV3L	ORPHA:570
HP:0010311	Aplasia/Hypoplasia of the breasts	23129	PLXND1	ORPHA:570
HP:0010311	Aplasia/Hypoplasia of the breasts	8318	CDC45	OMIM:617063
HP:0010311	Aplasia/Hypoplasia of the breasts	8318	CDC45	ORPHA:2554
HP:0010311	Aplasia/Hypoplasia of the breasts	1859	DYRK1A	ORPHA:268261
HP:0010311	Aplasia/Hypoplasia of the breasts	4000	LMNA	ORPHA:90153
HP:0010311	Aplasia/Hypoplasia of the breasts	10651	MTX2	ORPHA:90153
HP:0010311	Aplasia/Hypoplasia of the breasts	990	CDC6	ORPHA:2554
HP:0010311	Aplasia/Hypoplasia of the breasts	51053	GMNN	ORPHA:2554
HP:0010314	Premature thelarche	7681	MKRN3	OMIM:615346
HP:0010314	Premature thelarche	4313	MMP2	ORPHA:371428
HP:0010314	Premature thelarche	4323	MMP14	ORPHA:371428
HP:0010314	Premature thelarche	1387	CREBBP	OMIM:180849
HP:0010314	Premature thelarche	2033	EP300	OMIM:180849
HP:0010314	Premature thelarche	128989	TANGO2	OMIM:616878
HP:0010314	Premature thelarche	1859	DYRK1A	ORPHA:268261
HP:0010314	Premature thelarche	8085	KMT2D	OMIM:147920
HP:0010314	Premature thelarche	7403	KDM6A	OMIM:147920
HP:0010314	Premature thelarche	1584	CYP11B1	ORPHA:90795
HP:0010314	Premature thelarche	1984	EIF5A	OMIM:619376
HP:0010315	Aplasia/Hypoplasia of the diaphragm	219844	HYLS1	OMIM:236680
HP:0010315	Aplasia/Hypoplasia of the diaphragm	23414	ZFPM2	ORPHA:2140
HP:0010315	Aplasia/Hypoplasia of the diaphragm	9361	LONP1	ORPHA:2140
HP:0010315	Aplasia/Hypoplasia of the diaphragm	2627	GATA6	ORPHA:2140
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1131	CHRM3	ORPHA:2970
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1131	CHRM3	OMIM:100100
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	78989	COLEC11	OMIM:265050
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	129563	DIS3L2	OMIM:267000
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	29957	SLC25A24	OMIM:612289
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	4126	MANBA	ORPHA:118
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	538	ATP7A	ORPHA:565
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1281	COL3A1	ORPHA:286
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2239	GPC4	ORPHA:373
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2719	GPC3	ORPHA:373
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6023	RMRP	ORPHA:175
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	72	ACTG2	ORPHA:2604
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2317	FLNB	ORPHA:1263
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2200	FBN1	ORPHA:2462
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6497	SKI	ORPHA:2462
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	22800	RRAS2	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	867	CBL	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	8216	LZTR1	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6016	RIT1	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6237	RRAS	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	5894	RAF1	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	5894	RAF1	ORPHA:500
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	22808	MRAS	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	3845	KRAS	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	200734	SPRED2	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	4893	NRAS	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6654	SOS1	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	6655	SOS2	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	5781	PTPN11	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	5781	PTPN11	ORPHA:500
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	5922	RASA2	ORPHA:648
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	4621	MYH3	ORPHA:2990
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1146	CHRNG	ORPHA:2990
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	10225	CD96	ORPHA:1308
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	57192	MCOLN1	ORPHA:578
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	673	BRAF	ORPHA:500
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	64131	XYLT1	ORPHA:1425
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	124583	CANT1	ORPHA:1425
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	55790	CSGALNACT1	ORPHA:1425
HP:0010319	Abnormal second toe morphology	10236	HNRNPR	OMIM:620073
HP:0010319	Abnormal second toe morphology	658	BMPR1B	OMIM:112600
HP:0010319	Abnormal second toe morphology	8200	GDF5	OMIM:112600
HP:0010319	Abnormal second toe morphology	650	BMP2	OMIM:112600
HP:0010319	Abnormal second toe morphology	54880	BCOR	ORPHA:2712
HP:0010319	Abnormal second toe morphology	526	ATP6V1B2	ORPHA:79500
HP:0010319	Abnormal second toe morphology	57465	TBC1D24	ORPHA:79500
HP:0010319	Abnormal second toe morphology	51776	MAP3K20	ORPHA:488232
HP:0010319	Abnormal second toe morphology	3782	KCNN3	OMIM:618658
HP:0010319	Abnormal second toe morphology	9487	PIGL	OMIM:280000
HP:0010319	Abnormal second toe morphology	6595	SMARCA2	OMIM:601358
HP:0010319	Abnormal second toe morphology	23102	TBC1D2B	ORPHA:397973
HP:0010319	Abnormal second toe morphology	22856	CHSY1	ORPHA:363417
HP:0010319	Abnormal second toe morphology	10526	IPO8	OMIM:619472
HP:0030746	Intraventricular hemorrhage	2157	F8	ORPHA:169805
HP:0030746	Intraventricular hemorrhage	4774	NFIA	ORPHA:401986
HP:0030746	Intraventricular hemorrhage	55788	LMBRD1	ORPHA:79284
HP:0030746	Intraventricular hemorrhage	284058	KANSL1	ORPHA:363965
HP:0030746	Intraventricular hemorrhage	284058	KANSL1	ORPHA:363958
HP:0030746	Intraventricular hemorrhage	6678	SPARC	OMIM:616507
HP:0030746	Intraventricular hemorrhage	165918	RNF168	ORPHA:420741
HP:0030746	Intraventricular hemorrhage	100131801	PET100	OMIM:619055
HP:0030746	Intraventricular hemorrhage	92935	MARS2	OMIM:616430
HP:0030745	Dilatation of the ductus arteriosus	7046	TGFBR1	OMIM:609192
HP:0030745	Dilatation of the ductus arteriosus	7048	TGFBR2	OMIM:610168
HP:0030752	Dacryocystocele	3321	IGSF3	OMIM:149700
HP:0030752	Dacryocystocele	23137	SMC5	OMIM:620185
HP:0000787	Nephrolithiasis	1497	CTNS	OMIM:219800
HP:0000787	Nephrolithiasis	7421	VDR	ORPHA:93160
HP:0000787	Nephrolithiasis	776	CACNA1D	OMIM:615474
HP:0000787	Nephrolithiasis	776	CACNA1D	ORPHA:369929
HP:0000787	Nephrolithiasis	3081	HGD	OMIM:203500
HP:0000787	Nephrolithiasis	3081	HGD	ORPHA:56
HP:0000787	Nephrolithiasis	1119	CHKA	OMIM:620023
HP:0000787	Nephrolithiasis	2542	SLC37A4	OMIM:232220
HP:0000787	Nephrolithiasis	2542	SLC37A4	ORPHA:79259
HP:0000787	Nephrolithiasis	11136	SLC7A9	OMIM:220100
HP:0000787	Nephrolithiasis	6519	SLC3A1	OMIM:220100
HP:0000787	Nephrolithiasis	6519	SLC3A1	ORPHA:163690
HP:0000787	Nephrolithiasis	6519	SLC3A1	ORPHA:163693
HP:0000787	Nephrolithiasis	79577	CDC73	ORPHA:143
HP:0000787	Nephrolithiasis	79577	CDC73	OMIM:145001
HP:0000787	Nephrolithiasis	79577	CDC73	ORPHA:99880
HP:0000787	Nephrolithiasis	1387	CREBBP	ORPHA:353281
HP:0000787	Nephrolithiasis	1387	CREBBP	ORPHA:353277
HP:0000787	Nephrolithiasis	1184	CLCN5	OMIM:300009
HP:0000787	Nephrolithiasis	1184	CLCN5	OMIM:300554
HP:0000787	Nephrolithiasis	1184	CLCN5	OMIM:310468
HP:0000787	Nephrolithiasis	10686	CLDN16	OMIM:248250
HP:0000787	Nephrolithiasis	2033	EP300	ORPHA:353284
HP:0000787	Nephrolithiasis	6523	SLC5A1	ORPHA:35710
HP:0000787	Nephrolithiasis	4952	OCRL	ORPHA:534
HP:0000787	Nephrolithiasis	55034	MOCOS	OMIM:603592
HP:0000787	Nephrolithiasis	525	ATP6V1B1	OMIM:267300
HP:0000787	Nephrolithiasis	51726	DNAJB11	ORPHA:730
HP:0000787	Nephrolithiasis	23193	GANAB	ORPHA:730
HP:0000787	Nephrolithiasis	5310	PKD1	ORPHA:730
HP:0000787	Nephrolithiasis	5311	PKD2	ORPHA:730
HP:0000787	Nephrolithiasis	29880	ALG5	ORPHA:730
HP:0000787	Nephrolithiasis	9742	IFT140	ORPHA:730
HP:0000787	Nephrolithiasis	79796	ALG9	ORPHA:730
HP:0000787	Nephrolithiasis	80114	BICC1	ORPHA:730
HP:0000787	Nephrolithiasis	1491	CTH	ORPHA:212
HP:0000787	Nephrolithiasis	9071	CLDN10	OMIM:617671
HP:0000787	Nephrolithiasis	153642	ARSK	OMIM:619698
HP:0000787	Nephrolithiasis	6521	SLC4A1	OMIM:179800
HP:0000787	Nephrolithiasis	6928	HNF1B	OMIM:137920
HP:0000787	Nephrolithiasis	6928	HNF1B	ORPHA:1309
HP:0000787	Nephrolithiasis	3756	KCNH1	OMIM:135500
HP:0000787	Nephrolithiasis	113189	CHST14	ORPHA:2953
HP:0000787	Nephrolithiasis	29940	DSE	ORPHA:2953
HP:0000787	Nephrolithiasis	2200	FBN1	ORPHA:2833
HP:0000787	Nephrolithiasis	2538	G6PC1	OMIM:232200
HP:0000787	Nephrolithiasis	3872	KRT17	ORPHA:841
HP:0000787	Nephrolithiasis	5340	PLG	ORPHA:722
HP:0000787	Nephrolithiasis	5340	PLG	OMIM:217090
HP:0000787	Nephrolithiasis	10555	AGPAT2	OMIM:608594
HP:0000787	Nephrolithiasis	1175	AP2S1	OMIM:600740
HP:0000787	Nephrolithiasis	64127	NOD2	OMIM:617321
HP:0000787	Nephrolithiasis	92949	ADAMTSL1	ORPHA:521445
HP:0000787	Nephrolithiasis	149461	CLDN19	OMIM:248190
HP:0000787	Nephrolithiasis	149461	CLDN19	ORPHA:2196
HP:0000787	Nephrolithiasis	1591	CYP24A1	OMIM:143880
HP:0000787	Nephrolithiasis	5333	PLCD1	ORPHA:2387
HP:0000787	Nephrolithiasis	9049	AIP	OMIM:219090
HP:0000787	Nephrolithiasis	9101	USP8	OMIM:219090
HP:0000787	Nephrolithiasis	26040	SETBP1	ORPHA:798
HP:0000787	Nephrolithiasis	760	CA2	ORPHA:2785
HP:0000787	Nephrolithiasis	56244	BTNL2	ORPHA:797
HP:0000787	Nephrolithiasis	3123	HLA-DRB1	ORPHA:797
HP:0000787	Nephrolithiasis	6505	SLC1A1	OMIM:222730
HP:0000787	Nephrolithiasis	26580	BSCL2	OMIM:269700
HP:0000787	Nephrolithiasis	9368	NHERF1	OMIM:612287
HP:0000787	Nephrolithiasis	6569	SLC34A1	OMIM:612286
HP:0000787	Nephrolithiasis	6569	SLC34A1	ORPHA:157215
HP:0000787	Nephrolithiasis	5566	PRKACA	ORPHA:189439
HP:0000787	Nephrolithiasis	8622	PDE8B	ORPHA:189439
HP:0000787	Nephrolithiasis	5573	PRKAR1A	ORPHA:189439
HP:0000787	Nephrolithiasis	50940	PDE11A	ORPHA:189439
HP:0000787	Nephrolithiasis	6804	STX1A	ORPHA:904
HP:0000787	Nephrolithiasis	6804	STX1A	ORPHA:586
HP:0000787	Nephrolithiasis	7461	CLIP2	ORPHA:904
HP:0000787	Nephrolithiasis	84277	DNAJC30	ORPHA:904
HP:0000787	Nephrolithiasis	8468	FKBP6	ORPHA:904
HP:0000787	Nephrolithiasis	5982	RFC2	ORPHA:904
HP:0000787	Nephrolithiasis	2969	GTF2I	ORPHA:904
HP:0000787	Nephrolithiasis	3984	LIMK1	ORPHA:904
HP:0000787	Nephrolithiasis	9569	GTF2IRD1	ORPHA:904
HP:0000787	Nephrolithiasis	155382	VPS37D	ORPHA:904
HP:0000787	Nephrolithiasis	155368	METTL27	ORPHA:904
HP:0000787	Nephrolithiasis	114049	BUD23	ORPHA:904
HP:0000787	Nephrolithiasis	7458	EIF4H	ORPHA:904
HP:0000787	Nephrolithiasis	84163	GTF2IRD2	ORPHA:904
HP:0000787	Nephrolithiasis	9275	BCL7B	ORPHA:904
HP:0000787	Nephrolithiasis	26608	TBL2	ORPHA:904
HP:0000787	Nephrolithiasis	653361	NCF1	ORPHA:904
HP:0000787	Nephrolithiasis	135886	TMEM270	ORPHA:904
HP:0000787	Nephrolithiasis	51085	MLXIPL	ORPHA:904
HP:0000787	Nephrolithiasis	9031	BAZ1B	ORPHA:904
HP:0000787	Nephrolithiasis	2006	ELN	ORPHA:904
HP:0000787	Nephrolithiasis	92667	MGME1	ORPHA:352447
HP:0000787	Nephrolithiasis	2947	GSTM3	ORPHA:586
HP:0000787	Nephrolithiasis	7040	TGFB1	ORPHA:586
HP:0000787	Nephrolithiasis	2729	GCLC	ORPHA:586
HP:0000787	Nephrolithiasis	1084	CEACAM3	ORPHA:586
HP:0000787	Nephrolithiasis	6556	SLC11A1	ORPHA:586
HP:0000787	Nephrolithiasis	51164	DCTN4	ORPHA:586
HP:0000787	Nephrolithiasis	3783	KCNN4	ORPHA:586
HP:0000787	Nephrolithiasis	4282	MIF	ORPHA:586
HP:0000787	Nephrolithiasis	1909	EDNRA	ORPHA:586
HP:0000787	Nephrolithiasis	6550	SLC9A3	ORPHA:586
HP:0000787	Nephrolithiasis	3162	HMOX1	ORPHA:586
HP:0000787	Nephrolithiasis	115019	SLC26A9	ORPHA:586
HP:0000787	Nephrolithiasis	3077	HFE	ORPHA:586
HP:0000787	Nephrolithiasis	11254	SLC6A14	ORPHA:586
HP:0000787	Nephrolithiasis	5265	SERPINA1	ORPHA:586
HP:0000787	Nephrolithiasis	1080	CFTR	ORPHA:586
HP:0000787	Nephrolithiasis	22802	CLCA4	ORPHA:586
HP:0000787	Nephrolithiasis	4680	CEACAM6	ORPHA:586
HP:0000787	Nephrolithiasis	9247	GCM2	OMIM:617343
HP:0000787	Nephrolithiasis	10398	MYL9	OMIM:619365
HP:0000787	Nephrolithiasis	79798	ARMC5	ORPHA:189427
HP:0000787	Nephrolithiasis	2778	GNAS	ORPHA:189427
HP:0000787	Nephrolithiasis	9581	PREPL	ORPHA:163690
HP:0000787	Nephrolithiasis	9581	PREPL	ORPHA:163693
HP:0000787	Nephrolithiasis	540	ATP7B	OMIM:277900
HP:0000787	Nephrolithiasis	5495	PPM1B	ORPHA:163693
HP:0000787	Nephrolithiasis	79823	CAMKMT	ORPHA:163693
HP:0000787	Nephrolithiasis	4920	ROR2	OMIM:268310
HP:0000787	Nephrolithiasis	2658	GDF2	ORPHA:774
HP:0000787	Nephrolithiasis	94	ACVRL1	ORPHA:774
HP:0000787	Nephrolithiasis	4089	SMAD4	ORPHA:774
HP:0000787	Nephrolithiasis	2022	ENG	ORPHA:774
HP:0000787	Nephrolithiasis	4221	MEN1	ORPHA:652
HP:0000787	Nephrolithiasis	1027	CDKN1B	ORPHA:652
HP:0000787	Nephrolithiasis	1026	CDKN1A	ORPHA:652
HP:0000787	Nephrolithiasis	1030	CDKN2B	ORPHA:652
HP:0000787	Nephrolithiasis	1031	CDKN2C	ORPHA:652
HP:0000787	Nephrolithiasis	9365	KL	OMIM:617994
HP:0000787	Nephrolithiasis	1028	CDKN1C	OMIM:130650
HP:0000787	Nephrolithiasis	10984	KCNQ1OT1	OMIM:130650
HP:0000787	Nephrolithiasis	3481	IGF2	OMIM:130650
HP:0000787	Nephrolithiasis	3784	KCNQ1	OMIM:130650
HP:0000787	Nephrolithiasis	9075	CLDN2	OMIM:301060
HP:0000787	Nephrolithiasis	5076	PAX2	OMIM:120330
HP:0000787	Nephrolithiasis	3339	HSPG2	ORPHA:800
HP:0000787	Nephrolithiasis	846	CASR	OMIM:601198
HP:0000787	Nephrolithiasis	846	CASR	OMIM:145980
HP:0000787	Nephrolithiasis	6476	SI	OMIM:222900
HP:0000787	Nephrolithiasis	51004	COQ6	OMIM:614650
HP:0000787	Nephrolithiasis	55367	PIDD1	OMIM:619827
HP:0000787	Nephrolithiasis	2767	GNA11	OMIM:145981
HP:0000787	Nephrolithiasis	84168	ANTXR1	ORPHA:2067
HP:0000787	Nephrolithiasis	161742	SPRED1	ORPHA:137605
HP:0000787	Nephrolithiasis	871	SERPINH1	OMIM:613848
HP:0000787	Nephrolithiasis	5631	PRPS1	ORPHA:411543
HP:0000787	Nephrolithiasis	5631	PRPS1	ORPHA:411536
HP:0000787	Nephrolithiasis	5631	PRPS1	OMIM:300661
HP:0000787	Nephrolithiasis	116085	SLC22A12	OMIM:220150
HP:0000787	Nephrolithiasis	3251	HPRT1	ORPHA:79233
HP:0000787	Nephrolithiasis	353	APRT	ORPHA:976
HP:0000787	Nephrolithiasis	7498	XDH	OMIM:278300
HP:0000787	Nephrolithiasis	4337	MOCS1	OMIM:252150
HP:0000787	Nephrolithiasis	4338	MOCS2	OMIM:252160
HP:0000787	Nephrolithiasis	10568	SLC34A2	ORPHA:60025
HP:0000787	Nephrolithiasis	142680	SLC34A3	OMIM:241530
HP:0000787	Nephrolithiasis	56606	SLC2A9	ORPHA:94088
HP:0000787	Nephrolithiasis	10861	SLC26A1	OMIM:167030
HP:0000787	Nephrolithiasis	26873	OPLAH	OMIM:260005
HP:0000787	Nephrolithiasis	189	AGXT	OMIM:259900
HP:0000787	Nephrolithiasis	55811	ADCY10	ORPHA:2197
HP:0000787	Nephrolithiasis	55811	ADCY10	OMIM:143870
HP:0000787	Nephrolithiasis	9380	GRHPR	OMIM:260000
HP:0000787	Nephrolithiasis	51256	TBC1D7	OMIM:248000
HP:0000787	Nephrolithiasis	112817	HOGA1	OMIM:613616
HP:0000787	Nephrolithiasis	112817	HOGA1	ORPHA:93600
HP:0000787	Nephrolithiasis	153201	SLC36A2	OMIM:138500
HP:0000103	Polyuria	83483	PLVAP	OMIM:618183
HP:0000103	Polyuria	10916	MAGED2	OMIM:300971
HP:0000103	Polyuria	261734	NPHP4	OMIM:606996
HP:0000103	Polyuria	261734	NPHP4	OMIM:606966
HP:0000103	Polyuria	1497	CTNS	OMIM:219800
HP:0000103	Polyuria	1187	CLCNKA	OMIM:613090
HP:0000103	Polyuria	1188	CLCNKB	OMIM:613090
HP:0000103	Polyuria	1188	CLCNKB	OMIM:607364
HP:0000103	Polyuria	9071	CLDN10	OMIM:617671
HP:0000103	Polyuria	9365	KL	OMIM:617994
HP:0000103	Polyuria	54757	FAM20A	OMIM:204690
HP:0000103	Polyuria	91147	TMEM67	OMIM:613550
HP:0000103	Polyuria	3766	KCNJ10	OMIM:612780
HP:0000103	Polyuria	6569	SLC34A1	OMIM:616963
HP:0000103	Polyuria	359	AQP2	OMIM:125800
HP:0000103	Polyuria	54585	LZTFL1	OMIM:615994
HP:0000103	Polyuria	3762	KCNJ5	OMIM:613677
HP:0000103	Polyuria	857	CAV1	OMIM:606721
HP:0000103	Polyuria	6557	SLC12A1	OMIM:601678
HP:0000103	Polyuria	7809	BSND	OMIM:602522
HP:0000103	Polyuria	4867	NPHP1	OMIM:266900
HP:0000103	Polyuria	4867	NPHP1	OMIM:256100
HP:0000103	Polyuria	26191	PTPN22	OMIM:222100
HP:0000103	Polyuria	3710	ITPR3	OMIM:222100
HP:0000103	Polyuria	3569	IL6	OMIM:222100
HP:0000103	Polyuria	6927	HNF1A	OMIM:222100
HP:0000103	Polyuria	254428	SLC41A1	OMIM:619468
HP:0000103	Polyuria	6651	SON	OMIM:617140
HP:0000103	Polyuria	554	AVPR2	OMIM:304800
HP:0000103	Polyuria	3758	KCNJ1	OMIM:241200
HP:0000103	Polyuria	1591	CYP24A1	OMIM:143880
HP:0000103	Polyuria	476	ATP1A1	OMIM:618314
HP:0000103	Polyuria	10686	CLDN16	OMIM:248250
HP:0000103	Polyuria	6559	SLC12A3	OMIM:263800
HP:0000103	Polyuria	54938	SARS2	OMIM:613845
HP:0000103	Polyuria	27031	NPHP3	OMIM:604387
HP:0000103	Polyuria	846	CASR	OMIM:239200
HP:0000103	Polyuria	6524	SLC5A2	OMIM:233100
HP:0000103	Polyuria	58528	RRAGD	OMIM:620152
HP:0000105	Enlarged kidney	5290	PIK3CA	ORPHA:276280
HP:0000105	Enlarged kidney	7490	WT1	OMIM:608978
HP:0000105	Enlarged kidney	7490	WT1	OMIM:194080
HP:0000105	Enlarged kidney	79659	DYNC2H1	OMIM:613091
HP:0000105	Enlarged kidney	51422	PRKAG2	OMIM:261740
HP:0000105	Enlarged kidney	9158	FIBP	ORPHA:500095
HP:0000105	Enlarged kidney	5314	PKHD1	OMIM:263200
HP:0000105	Enlarged kidney	5314	PKHD1	ORPHA:731
HP:0000105	Enlarged kidney	55503	TRPV6	OMIM:618188
HP:0000105	Enlarged kidney	975	CD81	OMIM:613496
HP:0000105	Enlarged kidney	199221	DZIP1L	OMIM:617610
HP:0000105	Enlarged kidney	199221	DZIP1L	ORPHA:731
HP:0000105	Enlarged kidney	23394	ADNP	OMIM:615873
HP:0000105	Enlarged kidney	3643	INSR	ORPHA:508
HP:0000105	Enlarged kidney	2542	SLC37A4	OMIM:232220
HP:0000105	Enlarged kidney	2542	SLC37A4	ORPHA:79259
HP:0000105	Enlarged kidney	79796	ALG9	ORPHA:79328
HP:0000105	Enlarged kidney	79796	ALG9	ORPHA:730
HP:0000105	Enlarged kidney	23405	DICER1	OMIM:618272
HP:0000105	Enlarged kidney	2187	FANCB	OMIM:314390
HP:0000105	Enlarged kidney	7547	ZIC3	OMIM:314390
HP:0000105	Enlarged kidney	7547	ZIC3	OMIM:306955
HP:0000105	Enlarged kidney	27031	NPHP3	OMIM:208540
HP:0000105	Enlarged kidney	11311	VPS45	OMIM:615285
HP:0000105	Enlarged kidney	6288	SAA1	ORPHA:85445
HP:0000105	Enlarged kidney	65082	VPS33A	OMIM:617303
HP:0000105	Enlarged kidney	65082	VPS33A	ORPHA:505248
HP:0000105	Enlarged kidney	22858	CILK1	OMIM:612651
HP:0000105	Enlarged kidney	79158	GNPTAB	OMIM:252500
HP:0000105	Enlarged kidney	745	MYRF	OMIM:618280
HP:0000105	Enlarged kidney	51726	DNAJB11	ORPHA:730
HP:0000105	Enlarged kidney	23193	GANAB	ORPHA:730
HP:0000105	Enlarged kidney	5310	PKD1	ORPHA:730
HP:0000105	Enlarged kidney	5311	PKD2	ORPHA:730
HP:0000105	Enlarged kidney	29880	ALG5	ORPHA:730
HP:0000105	Enlarged kidney	9742	IFT140	ORPHA:730
HP:0000105	Enlarged kidney	80114	BICC1	ORPHA:730
HP:0000105	Enlarged kidney	1376	CPT2	OMIM:608836
HP:0000105	Enlarged kidney	1028	CDKN1C	OMIM:130650
HP:0000105	Enlarged kidney	10984	KCNQ1OT1	OMIM:130650
HP:0000105	Enlarged kidney	3481	IGF2	OMIM:130650
HP:0000105	Enlarged kidney	3784	KCNQ1	OMIM:130650
HP:0000105	Enlarged kidney	8260	NAA10	OMIM:300855
HP:0000105	Enlarged kidney	2538	G6PC1	OMIM:232200
HP:0000105	Enlarged kidney	284086	NEK8	OMIM:615415
HP:0000105	Enlarged kidney	2184	FAH	OMIM:276700
HP:0000105	Enlarged kidney	203286	ANKS6	OMIM:615382
HP:0000105	Enlarged kidney	7289	TULP3	OMIM:619902
HP:0000105	Enlarged kidney	55315	SLC29A3	ORPHA:168569
HP:0000105	Enlarged kidney	79867	TCTN2	OMIM:613885
HP:0000105	Enlarged kidney	2719	GPC3	OMIM:312870
HP:0000105	Enlarged kidney	2239	GPC4	OMIM:312870
HP:0000105	Enlarged kidney	27130	INVS	OMIM:602088
HP:0000105	Enlarged kidney	168667	BMPER	OMIM:608022
HP:0000108	Renal corticomedullary cysts	286204	CRB2	OMIM:219730
HP:0000108	Renal corticomedullary cysts	261734	NPHP4	OMIM:606966
HP:0000108	Renal corticomedullary cysts	51473	DCDC2	ORPHA:84081
HP:0000108	Renal corticomedullary cysts	91147	TMEM67	ORPHA:84081
HP:0000108	Renal corticomedullary cysts	91147	TMEM67	OMIM:613550
HP:0000108	Renal corticomedullary cysts	63929	XPNPEP3	OMIM:613159
HP:0000108	Renal corticomedullary cysts	4582	MUC1	OMIM:174000
HP:0000108	Renal corticomedullary cysts	27031	NPHP3	OMIM:604387
HP:0000108	Renal corticomedullary cysts	4867	NPHP1	OMIM:256100
HP:0010321	Abnormal fourth toe morphology	54880	BCOR	ORPHA:2712
HP:0010321	Abnormal fourth toe morphology	51776	MAP3K20	ORPHA:488232
HP:0010321	Abnormal fourth toe morphology	9241	NOG	OMIM:186500
HP:0010321	Abnormal fourth toe morphology	25782	RAB3GAP2	OMIM:614225
HP:0010321	Abnormal fourth toe morphology	118924	FRA10AC1	OMIM:620113
HP:0010321	Abnormal fourth toe morphology	84342	COG8	OMIM:611182
HP:0010321	Abnormal fourth toe morphology	341208	HEPHL1	OMIM:261990
HP:0010321	Abnormal fourth toe morphology	23102	TBC1D2B	ORPHA:397973
HP:0010321	Abnormal fourth toe morphology	5528	PPP2R5D	ORPHA:457279
HP:0010321	Abnormal fourth toe morphology	285203	EOGT	OMIM:615297
HP:0010322	Abnormal fifth toe morphology	2137	EXTL3	ORPHA:508533
HP:0010322	Abnormal fifth toe morphology	55112	DYNC2I1	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	26160	IFT172	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	153241	CEP120	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	57560	IFT80	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	51626	DYNC2LI1	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	79659	DYNC2H1	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	9742	IFT140	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	57728	WDR19	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	89891	DYNC2I2	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	79809	TTC21B	ORPHA:474
HP:0010322	Abnormal fifth toe morphology	6309	SC5D	ORPHA:46059
HP:0010322	Abnormal fifth toe morphology	6309	SC5D	OMIM:607330
HP:0010322	Abnormal fifth toe morphology	57545	CC2D2A	OMIM:612284
HP:0010322	Abnormal fifth toe morphology	57545	CC2D2A	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	26005	C2CD3	ORPHA:434179
HP:0010322	Abnormal fifth toe morphology	2737	GLI3	OMIM:175700
HP:0010322	Abnormal fifth toe morphology	2737	GLI3	ORPHA:380
HP:0010322	Abnormal fifth toe morphology	2737	GLI3	OMIM:174200
HP:0010322	Abnormal fifth toe morphology	2737	GLI3	OMIM:146510
HP:0010322	Abnormal fifth toe morphology	54585	LZTFL1	OMIM:615994
HP:0010322	Abnormal fifth toe morphology	2121	EVC	OMIM:193530
HP:0010322	Abnormal fifth toe morphology	2121	EVC	OMIM:225500
HP:0010322	Abnormal fifth toe morphology	132884	EVC2	OMIM:193530
HP:0010322	Abnormal fifth toe morphology	132884	EVC2	OMIM:225500
HP:0010322	Abnormal fifth toe morphology	79005	SCNM1	OMIM:620107
HP:0010322	Abnormal fifth toe morphology	6608	SMO	OMIM:241800
HP:0010322	Abnormal fifth toe morphology	51259	TMEM216	OMIM:608091
HP:0010322	Abnormal fifth toe morphology	51259	TMEM216	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	79770	TXNDC15	OMIM:619879
HP:0010322	Abnormal fifth toe morphology	79770	TXNDC15	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	56623	INPP5E	OMIM:213300
HP:0010322	Abnormal fifth toe morphology	91147	TMEM67	OMIM:607361
HP:0010322	Abnormal fifth toe morphology	91147	TMEM67	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	55209	SETD5	ORPHA:404440
HP:0010322	Abnormal fifth toe morphology	55593	OTUD5	OMIM:301056
HP:0010322	Abnormal fifth toe morphology	3239	HOXD13	OMIM:186000
HP:0010322	Abnormal fifth toe morphology	374654	KIF7	OMIM:200990
HP:0010322	Abnormal fifth toe morphology	374654	KIF7	OMIM:614120
HP:0010322	Abnormal fifth toe morphology	23322	RPGRIP1L	OMIM:611561
HP:0010322	Abnormal fifth toe morphology	23322	RPGRIP1L	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	64327	LMBR1	OMIM:174500
HP:0010322	Abnormal fifth toe morphology	79867	TCTN2	OMIM:616654
HP:0010322	Abnormal fifth toe morphology	79867	TCTN2	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	9373	PLAA	ORPHA:521426
HP:0010322	Abnormal fifth toe morphology	64093	SMOC1	OMIM:206920
HP:0010322	Abnormal fifth toe morphology	64093	SMOC1	ORPHA:1106
HP:0010322	Abnormal fifth toe morphology	1717	DHCR7	ORPHA:818
HP:0010322	Abnormal fifth toe morphology	1717	DHCR7	OMIM:270400
HP:0010322	Abnormal fifth toe morphology	10225	CD96	OMIM:211750
HP:0010322	Abnormal fifth toe morphology	3930	LBR	OMIM:215140
HP:0010322	Abnormal fifth toe morphology	652	BMP4	ORPHA:139471
HP:0010322	Abnormal fifth toe morphology	8195	MKKS	ORPHA:2473
HP:0010322	Abnormal fifth toe morphology	84100	ARL6	OMIM:209900
HP:0010322	Abnormal fifth toe morphology	79140	CCDC28B	OMIM:209900
HP:0010322	Abnormal fifth toe morphology	582	BBS1	OMIM:209900
HP:0010322	Abnormal fifth toe morphology	51684	SUFU	OMIM:617757
HP:0010322	Abnormal fifth toe morphology	80173	IFT74	OMIM:617119
HP:0010322	Abnormal fifth toe morphology	79583	TMEM231	ORPHA:2752
HP:0010322	Abnormal fifth toe morphology	79583	TMEM231	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	84314	TMEM107	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	84314	TMEM107	OMIM:617563
HP:0010322	Abnormal fifth toe morphology	26123	TCTN3	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	80776	B9D2	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	80776	B9D2	OMIM:614175
HP:0010322	Abnormal fifth toe morphology	79600	TCTN1	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	57096	RPGRIP1	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	79848	CSPP1	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	80184	CEP290	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	27077	B9D1	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	54903	MKS1	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	54903	MKS1	OMIM:249000
HP:0010322	Abnormal fifth toe morphology	65062	TMEM237	ORPHA:564
HP:0010322	Abnormal fifth toe morphology	27031	NPHP3	OMIM:267010
HP:0010322	Abnormal fifth toe morphology	285600	KIAA0825	OMIM:618498
HP:0010322	Abnormal fifth toe morphology	23288	IQCE	OMIM:617642
HP:0010322	Abnormal fifth toe morphology	583	BBS2	OMIM:615981
HP:0010322	Abnormal fifth toe morphology	5567	PRKACB	OMIM:619143
HP:0010322	Abnormal fifth toe morphology	5147	PDE6D	OMIM:615665
HP:0010322	Abnormal fifth toe morphology	137392	CIBAR1	OMIM:618219
HP:0010322	Abnormal fifth toe morphology	7700	ZNF141	OMIM:615226
HP:0010322	Abnormal fifth toe morphology	166379	BBS12	OMIM:615989
HP:0010322	Abnormal fifth toe morphology	27241	BBS9	OMIM:615986
HP:0010322	Abnormal fifth toe morphology	255758	DYNLT2B	OMIM:617405
HP:0010322	Abnormal fifth toe morphology	10195	ALG3	OMIM:601110
HP:0010322	Abnormal fifth toe morphology	6299	SALL1	OMIM:107480
HP:0010322	Abnormal fifth toe morphology	5283	PIGH	OMIM:618010
HP:0010322	Abnormal fifth toe morphology	341208	HEPHL1	OMIM:261990
HP:0010322	Abnormal fifth toe morphology	25782	RAB3GAP2	OMIM:614225
HP:0010322	Abnormal fifth toe morphology	6049	RNF6	ORPHA:99977
HP:0010322	Abnormal fifth toe morphology	7048	TGFBR2	ORPHA:99977
HP:0010322	Abnormal fifth toe morphology	51741	WWOX	ORPHA:99977
HP:0010322	Abnormal fifth toe morphology	9940	DLEC1	ORPHA:99977
HP:0010322	Abnormal fifth toe morphology	118924	FRA10AC1	OMIM:620113
HP:0010322	Abnormal fifth toe morphology	150468	CKAP2L	ORPHA:3255
HP:0010322	Abnormal fifth toe morphology	3759	KCNJ2	OMIM:170390
HP:0010322	Abnormal fifth toe morphology	3759	KCNJ2	ORPHA:37553
HP:0010322	Abnormal fifth toe morphology	3762	KCNJ5	ORPHA:37553
HP:0010322	Abnormal fifth toe morphology	83479	DDX59	ORPHA:2919
HP:0010322	Abnormal fifth toe morphology	4750	NEK1	OMIM:263520
HP:0010322	Abnormal fifth toe morphology	158326	FREM1	ORPHA:217266
HP:0010322	Abnormal fifth toe morphology	93587	TRMT10A	ORPHA:391408
HP:0010322	Abnormal fifth toe morphology	84919	PPP1R15B	ORPHA:391408
HP:0010322	Abnormal fifth toe morphology	51776	MAP3K20	ORPHA:488232
HP:0010322	Abnormal fifth toe morphology	22856	CHSY1	ORPHA:363417
HP:0010322	Abnormal fifth toe morphology	6597	SMARCA4	OMIM:614609
HP:0010322	Abnormal fifth toe morphology	3782	KCNN3	OMIM:618658
HP:0010322	Abnormal fifth toe morphology	57492	ARID1B	OMIM:135900
HP:0010322	Abnormal fifth toe morphology	9241	NOG	OMIM:186500
HP:0010323	Abnormality of the epiphyses of the 2nd toe	23102	TBC1D2B	ORPHA:397973
HP:0010324	Abnormal morphology of phalanx of the 2nd toe	526	ATP6V1B2	ORPHA:79500
HP:0010324	Abnormal morphology of phalanx of the 2nd toe	57465	TBC1D24	ORPHA:79500
HP:0010324	Abnormal morphology of phalanx of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0010324	Abnormal morphology of phalanx of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010325	Aplasia/Hypoplasia of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010325	Aplasia/Hypoplasia of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0010326	Deviation of the 2nd toe	10236	HNRNPR	OMIM:620073
HP:0010326	Deviation of the 2nd toe	658	BMPR1B	OMIM:112600
HP:0010326	Deviation of the 2nd toe	8200	GDF5	OMIM:112600
HP:0010326	Deviation of the 2nd toe	650	BMP2	OMIM:112600
HP:0010326	Deviation of the 2nd toe	22856	CHSY1	ORPHA:363417
HP:0010327	Flexion contracture of the 2nd toe	54880	BCOR	OMIM:300166
HP:0010327	Flexion contracture of the 2nd toe	10526	IPO8	OMIM:619472
HP:0010329	Abnormality of the epiphyses of the 3rd toe	23102	TBC1D2B	ORPHA:397973
HP:0010320	Abnormal third toe morphology	84342	COG8	OMIM:611182
HP:0010320	Abnormal third toe morphology	6299	SALL1	OMIM:107480
HP:0010320	Abnormal third toe morphology	6299	SALL1	ORPHA:857
HP:0010320	Abnormal third toe morphology	51339	DACT1	ORPHA:857
HP:0010320	Abnormal third toe morphology	51776	MAP3K20	ORPHA:488232
HP:0010320	Abnormal third toe morphology	23102	TBC1D2B	ORPHA:397973
HP:0010320	Abnormal third toe morphology	54880	BCOR	OMIM:300166
HP:0010320	Abnormal third toe morphology	4000	LMNA	ORPHA:2229
HP:0010320	Abnormal third toe morphology	285203	EOGT	OMIM:615297
HP:0010320	Abnormal third toe morphology	9241	NOG	OMIM:186500
HP:0030758	Periapical tooth abscess	1747	DLX3	ORPHA:3352
HP:0030757	Tooth abscess	4914	NTRK1	ORPHA:642
HP:0030757	Tooth abscess	5251	PHEX	ORPHA:89936
HP:0030757	Tooth abscess	8074	FGF23	ORPHA:89937
HP:0030757	Tooth abscess	1758	DMP1	ORPHA:289176
HP:0030757	Tooth abscess	5167	ENPP1	ORPHA:289176
HP:0030757	Tooth abscess	1991	ELANE	ORPHA:2686
HP:0030757	Tooth abscess	1747	DLX3	ORPHA:3352
HP:0030756	Erythrodontia	7390	UROS	OMIM:263700
HP:0030756	Erythrodontia	7390	UROS	ORPHA:79277
HP:0030756	Erythrodontia	2623	GATA1	ORPHA:79277
HP:0030756	Erythrodontia	7389	UROD	ORPHA:95159
HP:0030760	Renal fibrosis	261734	NPHP4	OMIM:606966
HP:0030760	Renal fibrosis	54	ACP5	OMIM:607944
HP:0030760	Renal fibrosis	7809	BSND	OMIM:602522
HP:0030760	Renal fibrosis	4867	NPHP1	OMIM:266900
HP:0030760	Renal fibrosis	4867	NPHP1	OMIM:256100
HP:0030760	Renal fibrosis	5972	REN	OMIM:613092
HP:0030760	Renal fibrosis	5800	PTPRO	OMIM:614196
HP:0030760	Renal fibrosis	5314	PKHD1	OMIM:263200
HP:0030760	Renal fibrosis	137682	NDUFAF6	OMIM:618913
HP:0030760	Renal fibrosis	2632	GBE1	OMIM:232500
HP:0030760	Renal fibrosis	84168	ANTXR1	OMIM:230740
HP:0030760	Renal fibrosis	4582	MUC1	OMIM:174000
HP:0030760	Renal fibrosis	1184	CLCN5	OMIM:310468
HP:0030760	Renal fibrosis	27031	NPHP3	OMIM:604387
HP:0030760	Renal fibrosis	2542	SLC37A4	ORPHA:79259
HP:0030760	Renal fibrosis	403	ARL3	OMIM:618161
HP:0030760	Renal fibrosis	9056	SLC7A7	ORPHA:470
HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	6557	SLC12A1	OMIM:601678
HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	3758	KCNJ1	OMIM:241200
HP:0000112	Nephropathy	3767	KCNJ11	ORPHA:552
HP:0000112	Nephropathy	8462	KLF11	ORPHA:552
HP:0000112	Nephropathy	2645	GCK	ORPHA:552
HP:0000112	Nephropathy	26060	APPL1	ORPHA:552
HP:0000112	Nephropathy	640	BLK	ORPHA:552
HP:0000112	Nephropathy	1056	CEL	ORPHA:552
HP:0000112	Nephropathy	4760	NEUROD1	ORPHA:552
HP:0000112	Nephropathy	3651	PDX1	ORPHA:552
HP:0000112	Nephropathy	6833	ABCC8	ORPHA:552
HP:0000112	Nephropathy	5078	PAX4	ORPHA:552
HP:0000112	Nephropathy	3172	HNF4A	ORPHA:552
HP:0000112	Nephropathy	6927	HNF1A	ORPHA:552
HP:0000112	Nephropathy	3630	INS	ORPHA:552
HP:0000112	Nephropathy	55112	DYNC2I1	ORPHA:474
HP:0000112	Nephropathy	26160	IFT172	ORPHA:474
HP:0000112	Nephropathy	153241	CEP120	ORPHA:474
HP:0000112	Nephropathy	57560	IFT80	ORPHA:474
HP:0000112	Nephropathy	51626	DYNC2LI1	ORPHA:474
HP:0000112	Nephropathy	79659	DYNC2H1	ORPHA:474
HP:0000112	Nephropathy	9742	IFT140	ORPHA:474
HP:0000112	Nephropathy	57728	WDR19	ORPHA:474
HP:0000112	Nephropathy	89891	DYNC2I2	ORPHA:474
HP:0000112	Nephropathy	79809	TTC21B	ORPHA:474
HP:0000112	Nephropathy	4558	MT-TF	ORPHA:550
HP:0000112	Nephropathy	4572	MT-TQ	ORPHA:550
HP:0000112	Nephropathy	4512	MT-CO1	ORPHA:550
HP:0000112	Nephropathy	4513	MT-CO2	ORPHA:550
HP:0000112	Nephropathy	4514	MT-CO3	ORPHA:550
HP:0000112	Nephropathy	4578	MT-TW	ORPHA:550
HP:0000112	Nephropathy	4540	MT-ND5	ORPHA:550
HP:0000112	Nephropathy	4541	MT-ND6	ORPHA:550
HP:0000112	Nephropathy	4535	MT-ND1	ORPHA:550
HP:0000112	Nephropathy	4538	MT-ND4	ORPHA:550
HP:0000112	Nephropathy	4567	MT-TL1	ORPHA:550
HP:0000112	Nephropathy	4574	MT-TS1	ORPHA:550
HP:0000112	Nephropathy	4575	MT-TS2	ORPHA:550
HP:0000112	Nephropathy	4564	MT-TH	ORPHA:550
HP:0000112	Nephropathy	7454	WAS	OMIM:301000
HP:0000112	Nephropathy	7454	WAS	ORPHA:906
HP:0000112	Nephropathy	595	CCND1	ORPHA:29073
HP:0000112	Nephropathy	29927	SEC61A1	OMIM:617056
HP:0000112	Nephropathy	7456	WIPF1	ORPHA:906
HP:0000112	Nephropathy	56623	INPP5E	OMIM:213300
HP:0000112	Nephropathy	56623	INPP5E	ORPHA:1454
HP:0000112	Nephropathy	493856	CISD2	ORPHA:3463
HP:0000112	Nephropathy	7466	WFS1	ORPHA:3463
HP:0000112	Nephropathy	3766	KCNJ10	ORPHA:705
HP:0000112	Nephropathy	2299	FOXI1	ORPHA:705
HP:0000112	Nephropathy	5172	SLC26A4	ORPHA:705
HP:0000112	Nephropathy	51816	ADA2	ORPHA:820
HP:0000112	Nephropathy	9935	MAFB	ORPHA:2774
HP:0000112	Nephropathy	4210	MEFV	ORPHA:342
HP:0000112	Nephropathy	7490	WT1	ORPHA:220
HP:0000112	Nephropathy	7490	WT1	OMIM:194080
HP:0000112	Nephropathy	7490	WT1	OMIM:194072
HP:0000112	Nephropathy	7276	TTR	ORPHA:85447
HP:0000112	Nephropathy	6288	SAA1	ORPHA:85445
HP:0000112	Nephropathy	50485	SMARCAL1	ORPHA:1830
HP:0000112	Nephropathy	23322	RPGRIP1L	ORPHA:220497
HP:0000112	Nephropathy	23322	RPGRIP1L	ORPHA:1454
HP:0000112	Nephropathy	4867	NPHP1	ORPHA:220497
HP:0000112	Nephropathy	65062	TMEM237	ORPHA:220497
HP:0000112	Nephropathy	65062	TMEM237	ORPHA:2318
HP:0000112	Nephropathy	6514	SLC2A2	ORPHA:2088
HP:0000112	Nephropathy	54757	FAM20A	ORPHA:1031
HP:0000112	Nephropathy	5625	PRODH	ORPHA:419
HP:0000112	Nephropathy	114548	NLRP3	ORPHA:575
HP:0000112	Nephropathy	3090	HIC1	ORPHA:531
HP:0000112	Nephropathy	5048	PAFAH1B1	ORPHA:531
HP:0000112	Nephropathy	7531	YWHAE	ORPHA:531
HP:0000112	Nephropathy	7369	UMOD	OMIM:162000
HP:0000112	Nephropathy	6524	SLC5A2	ORPHA:69076
HP:0000112	Nephropathy	149461	CLDN19	ORPHA:2196
HP:0000112	Nephropathy	6340	SCNN1G	ORPHA:526
HP:0000112	Nephropathy	6338	SCNN1B	ORPHA:526
HP:0000112	Nephropathy	6337	SCNN1A	ORPHA:526
HP:0000112	Nephropathy	64127	NOD2	ORPHA:90340
HP:0000112	Nephropathy	79583	TMEM231	ORPHA:2318
HP:0000112	Nephropathy	51524	TMEM138	ORPHA:2318
HP:0000112	Nephropathy	23090	ZNF423	ORPHA:2318
HP:0000112	Nephropathy	80184	CEP290	ORPHA:2318
HP:0000112	Nephropathy	51259	TMEM216	ORPHA:2318
HP:0000112	Nephropathy	57545	CC2D2A	ORPHA:2318
HP:0000112	Nephropathy	57545	CC2D2A	ORPHA:1454
HP:0000112	Nephropathy	2717	GLA	ORPHA:324
HP:0000112	Nephropathy	11277	TREX1	ORPHA:247691
HP:0000112	Nephropathy	26276	VPS33B	OMIM:208085
HP:0000112	Nephropathy	91147	TMEM67	ORPHA:1454
HP:0000112	Nephropathy	63894	VIPAS39	OMIM:613404
HP:0000112	Nephropathy	4627	MYH9	ORPHA:182050
HP:0000112	Nephropathy	1371	CPOX	ORPHA:79273
HP:0000112	Nephropathy	51002	TPRKB	ORPHA:2065
HP:0000112	Nephropathy	84942	WDR73	ORPHA:2065
HP:0000112	Nephropathy	55644	OSGEP	ORPHA:2065
HP:0000112	Nephropathy	57122	NUP107	ORPHA:2065
HP:0000112	Nephropathy	10785	WDR4	ORPHA:2065
HP:0000112	Nephropathy	55746	NUP133	ORPHA:2065
HP:0000112	Nephropathy	112858	TP53RK	ORPHA:2065
HP:0000112	Nephropathy	8270	LAGE3	ORPHA:2065
HP:0000112	Nephropathy	950	SCARB2	OMIM:254900
HP:0000112	Nephropathy	3251	HPRT1	ORPHA:79233
HP:0000112	Nephropathy	5080	PAX6	OMIM:194072
HP:0000112	Nephropathy	25974	MMACHC	OMIM:277400
HP:0000112	Nephropathy	5052	PRDX1	OMIM:277400
HP:0000112	Nephropathy	1288	COL4A6	ORPHA:1018
HP:0000112	Nephropathy	1287	COL4A5	ORPHA:1018
HP:0000112	Nephropathy	4069	LYZ	OMIM:105200
HP:0000112	Nephropathy	2243	FGA	OMIM:105200
HP:0000112	Nephropathy	335	APOA1	OMIM:105200
HP:0000112	Nephropathy	567	B2M	OMIM:105200
HP:0000114	Proximal tubulopathy	4351	MPI	OMIM:602579
HP:0000114	Proximal tubulopathy	4558	MT-TF	ORPHA:550
HP:0000114	Proximal tubulopathy	4572	MT-TQ	ORPHA:550
HP:0000114	Proximal tubulopathy	4512	MT-CO1	ORPHA:550
HP:0000114	Proximal tubulopathy	4513	MT-CO2	ORPHA:550
HP:0000114	Proximal tubulopathy	4514	MT-CO3	ORPHA:550
HP:0000114	Proximal tubulopathy	4578	MT-TW	ORPHA:550
HP:0000114	Proximal tubulopathy	4540	MT-ND5	ORPHA:550
HP:0000114	Proximal tubulopathy	4541	MT-ND6	ORPHA:550
HP:0000114	Proximal tubulopathy	4535	MT-ND1	ORPHA:550
HP:0000114	Proximal tubulopathy	4535	MT-ND1	ORPHA:2609
HP:0000114	Proximal tubulopathy	4538	MT-ND4	ORPHA:550
HP:0000114	Proximal tubulopathy	4567	MT-TL1	ORPHA:550
HP:0000114	Proximal tubulopathy	4574	MT-TS1	ORPHA:550
HP:0000114	Proximal tubulopathy	4575	MT-TS2	ORPHA:550
HP:0000114	Proximal tubulopathy	4564	MT-TH	ORPHA:550
HP:0000114	Proximal tubulopathy	3043	HBB	ORPHA:231222
HP:0000114	Proximal tubulopathy	54539	NDUFB11	ORPHA:2609
HP:0000114	Proximal tubulopathy	25915	NDUFAF3	ORPHA:2609
HP:0000114	Proximal tubulopathy	51103	NDUFAF1	ORPHA:2609
HP:0000114	Proximal tubulopathy	91942	NDUFAF2	ORPHA:2609
HP:0000114	Proximal tubulopathy	51300	TIMMDC1	ORPHA:2609
HP:0000114	Proximal tubulopathy	4716	NDUFB10	ORPHA:2609
HP:0000114	Proximal tubulopathy	4723	NDUFV1	ORPHA:2609
HP:0000114	Proximal tubulopathy	55572	FOXRED1	ORPHA:2609
HP:0000114	Proximal tubulopathy	284184	NDUFAF8	ORPHA:2609
HP:0000114	Proximal tubulopathy	55863	TMEM126B	ORPHA:2609
HP:0000114	Proximal tubulopathy	4537	MT-ND3	ORPHA:2609
HP:0000114	Proximal tubulopathy	4729	NDUFV2	ORPHA:2609
HP:0000114	Proximal tubulopathy	4694	NDUFA1	ORPHA:2609
HP:0000114	Proximal tubulopathy	4720	NDUFS2	ORPHA:2609
HP:0000114	Proximal tubulopathy	4724	NDUFS4	ORPHA:2609
HP:0000114	Proximal tubulopathy	4726	NDUFS6	ORPHA:2609
HP:0000114	Proximal tubulopathy	4728	NDUFS8	ORPHA:2609
HP:0000114	Proximal tubulopathy	4722	NDUFS3	ORPHA:2609
HP:0000114	Proximal tubulopathy	79133	NDUFAF5	ORPHA:2609
HP:0000114	Proximal tubulopathy	126328	NDUFA11	ORPHA:2609
HP:0000114	Proximal tubulopathy	4709	NDUFB3	ORPHA:2609
HP:0000114	Proximal tubulopathy	80224	NUBPL	ORPHA:2609
HP:0000114	Proximal tubulopathy	29078	NDUFAF4	ORPHA:2609
HP:0000114	Proximal tubulopathy	374291	NDUFS7	ORPHA:2609
HP:0000114	Proximal tubulopathy	4700	NDUFA6	ORPHA:2609
HP:0000114	Proximal tubulopathy	4536	MT-ND2	ORPHA:2609
HP:0000114	Proximal tubulopathy	4719	NDUFS1	ORPHA:2609
HP:0000114	Proximal tubulopathy	4715	NDUFB9	ORPHA:2609
HP:0000114	Proximal tubulopathy	4952	OCRL	OMIM:300555
HP:0000114	Proximal tubulopathy	229	ALDOB	OMIM:229600
HP:0000114	Proximal tubulopathy	1184	CLCN5	OMIM:300554
HP:0000114	Proximal tubulopathy	1184	CLCN5	OMIM:300009
HP:0000114	Proximal tubulopathy	1184	CLCN5	OMIM:310468
HP:0000114	Proximal tubulopathy	1184	CLCN5	OMIM:308990
HP:0000114	Proximal tubulopathy	5442	POLRMT	OMIM:619743
HP:0000114	Proximal tubulopathy	50484	RRM2B	OMIM:612075
HP:0000114	Proximal tubulopathy	57511	COG6	OMIM:614576
HP:0000114	Proximal tubulopathy	6569	SLC34A1	OMIM:613388
HP:0000114	Proximal tubulopathy	1497	CTNS	ORPHA:411634
HP:0000114	Proximal tubulopathy	2108	ETFA	OMIM:231680
HP:0000114	Proximal tubulopathy	2109	ETFB	OMIM:231680
HP:0000114	Proximal tubulopathy	2110	ETFDH	OMIM:231680
HP:0000114	Proximal tubulopathy	5373	PMM2	OMIM:212065
HP:0000114	Proximal tubulopathy	4036	LRP2	OMIM:222448
HP:0000117	Renal phosphate wasting	2778	GNAS	ORPHA:562
HP:0000117	Renal phosphate wasting	5251	PHEX	OMIM:307800
HP:0000117	Renal phosphate wasting	5251	PHEX	ORPHA:89936
HP:0000117	Renal phosphate wasting	3636	INPPL1	OMIM:258480
HP:0000117	Renal phosphate wasting	1184	CLCN5	OMIM:300554
HP:0000117	Renal phosphate wasting	1184	CLCN5	OMIM:300009
HP:0000117	Renal phosphate wasting	1758	DMP1	ORPHA:289176
HP:0000117	Renal phosphate wasting	5167	ENPP1	ORPHA:289176
HP:0000117	Renal phosphate wasting	142680	SLC34A3	OMIM:241530
HP:0000117	Renal phosphate wasting	9368	NHERF1	OMIM:612287
HP:0000117	Renal phosphate wasting	6569	SLC34A1	OMIM:616963
HP:0000117	Renal phosphate wasting	6569	SLC34A1	OMIM:612286
HP:0000117	Renal phosphate wasting	6569	SLC34A1	OMIM:613388
HP:0000117	Renal phosphate wasting	6569	SLC34A1	ORPHA:3337
HP:0000117	Renal phosphate wasting	1497	CTNS	ORPHA:411634
HP:0000117	Renal phosphate wasting	8074	FGF23	OMIM:193100
HP:0000117	Renal phosphate wasting	1962	EHHADH	ORPHA:3337
HP:0000117	Renal phosphate wasting	2628	GATM	ORPHA:3337
HP:0000117	Renal phosphate wasting	137682	NDUFAF6	ORPHA:3337
HP:0000118	Phenotypic abnormality	6911	TBX6	ORPHA:1797
HP:0000118	Phenotypic abnormality	4478	MSN	OMIM:300988
HP:0000118	Phenotypic abnormality	5971	RELB	OMIM:617585
HP:0000118	Phenotypic abnormality	26284	ERAL1	OMIM:617565
HP:0000118	Phenotypic abnormality	4439	MSH5	OMIM:617442
HP:0000118	Phenotypic abnormality	344018	FIGLA	OMIM:612310
HP:0000118	Phenotypic abnormality	10398	MYL9	OMIM:619365
HP:0000118	Phenotypic abnormality	29969	MDFIC	OMIM:620014
HP:0000118	Phenotypic abnormality	55240	STEAP3	OMIM:615234
HP:0000118	Phenotypic abnormality	55240	STEAP3	ORPHA:300298
HP:0000118	Phenotypic abnormality	84515	MCM8	OMIM:612885
HP:0000118	Phenotypic abnormality	4438	MSH4	OMIM:108420
HP:0000118	Phenotypic abnormality	317761	C14orf39	OMIM:619202
HP:0000118	Phenotypic abnormality	6875	TAF4B	OMIM:615841
HP:0000118	Phenotypic abnormality	6875	TAF4B	ORPHA:399805
HP:0000118	Phenotypic abnormality	84225	ZMYND15	OMIM:615842
HP:0000118	Phenotypic abnormality	84225	ZMYND15	ORPHA:399805
HP:0000118	Phenotypic abnormality	56155	TEX14	OMIM:617707
HP:0000118	Phenotypic abnormality	56155	TEX14	ORPHA:399805
HP:0000118	Phenotypic abnormality	56154	TEX15	ORPHA:399805
HP:0000118	Phenotypic abnormality	254528	MEIOB	ORPHA:399805
HP:0000118	Phenotypic abnormality	91057	CCDC34	ORPHA:399805
HP:0000118	Phenotypic abnormality	402381	SOHLH1	ORPHA:399805
HP:0000118	Phenotypic abnormality	317719	KLHL10	ORPHA:399805
HP:0000118	Phenotypic abnormality	154197	PNLDC1	ORPHA:399805
HP:0000118	Phenotypic abnormality	93426	SYCE1	ORPHA:399805
HP:0000118	Phenotypic abnormality	340719	NANOS1	ORPHA:399805
HP:0000118	Phenotypic abnormality	340719	NANOS1	OMIM:615413
HP:0000118	Phenotypic abnormality	50511	SYCP3	ORPHA:399805
HP:0000118	Phenotypic abnormality	50511	SYCP3	OMIM:270960
HP:0000118	Phenotypic abnormality	161497	STRC	ORPHA:94064
HP:0000118	Phenotypic abnormality	117155	CATSPER2	ORPHA:94064
HP:0000118	Phenotypic abnormality	93953	GCNA	OMIM:301077
HP:0000118	Phenotypic abnormality	10149	ADGRG2	OMIM:300985
HP:0000118	Phenotypic abnormality	5161	PDHA2	OMIM:619828
HP:0000118	Phenotypic abnormality	130951	M1AP	OMIM:619108
HP:0000118	Phenotypic abnormality	9082	XKRY	OMIM:415000
HP:0000118	Phenotypic abnormality	8284	KDM5D	OMIM:415000
HP:0000118	Phenotypic abnormality	442862	PRY2	OMIM:415000
HP:0000118	Phenotypic abnormality	9081	PRY	OMIM:415000
HP:0000118	Phenotypic abnormality	140032	RPS4Y2	OMIM:415000
HP:0000118	Phenotypic abnormality	9426	CDY2A	OMIM:415000
HP:0000118	Phenotypic abnormality	9083	BPY2	OMIM:415000
HP:0000118	Phenotypic abnormality	86614	HSFY1	OMIM:415000
HP:0000118	Phenotypic abnormality	9084	VCY	OMIM:415000
HP:0000118	Phenotypic abnormality	9085	CDY1	OMIM:415000
HP:0000118	Phenotypic abnormality	7258	TSPY1	ORPHA:1646
HP:0000118	Phenotypic abnormality	57055	DAZ2	ORPHA:1646
HP:0000118	Phenotypic abnormality	57135	DAZ4	ORPHA:1646
HP:0000118	Phenotypic abnormality	8287	USP9Y	ORPHA:1646
HP:0000118	Phenotypic abnormality	5940	RBMY1A1	ORPHA:1646
HP:0000118	Phenotypic abnormality	57054	DAZ3	ORPHA:1646
HP:0000118	Phenotypic abnormality	8653	DDX3Y	ORPHA:1646
HP:0000118	Phenotypic abnormality	1617	DAZ1	ORPHA:1646
HP:0000118	Phenotypic abnormality	122402	TDRD9	OMIM:618110
HP:0000118	Phenotypic abnormality	3640	INSL3	OMIM:219050
HP:0000118	Phenotypic abnormality	1748	DLX4	OMIM:616788
HP:0000118	Phenotypic abnormality	2312	FLG	ORPHA:461
HP:0000118	Phenotypic abnormality	8854	ALDH1A2	OMIM:620025
HP:0000118	Phenotypic abnormality	56159	TEX11	OMIM:309120
HP:0000118	Phenotypic abnormality	7374	UNG	OMIM:608106
HP:0000118	Phenotypic abnormality	285	ANGPT2	OMIM:619369
HP:0000118	Phenotypic abnormality	7424	VEGFC	OMIM:615907
HP:0000118	Phenotypic abnormality	268	AMH	ORPHA:2856
HP:0000118	Phenotypic abnormality	269	AMHR2	ORPHA:2856
HP:0000118	Phenotypic abnormality	2488	FSHB	ORPHA:52901
HP:0000118	Phenotypic abnormality	55366	LGR4	OMIM:619613
HP:0000118	Phenotypic abnormality	558	AXL	OMIM:146110
HP:0000118	Phenotypic abnormality	10011	SRA1	OMIM:146110
HP:0000118	Phenotypic abnormality	3972	LHB	OMIM:228300
HP:0000118	Phenotypic abnormality	1761	DMRT1	ORPHA:242
HP:0000118	Phenotypic abnormality	84733	CBX2	ORPHA:242
HP:0000118	Phenotypic abnormality	2296	FOXC1	ORPHA:782
HP:0000118	Phenotypic abnormality	4713	NDUFB7	OMIM:620135
HP:0000118	Phenotypic abnormality	1589	CYP21A2	OMIM:201910
HP:0000118	Phenotypic abnormality	27316	RBMX	OMIM:300238
HP:0000118	Phenotypic abnormality	2688	GH1	OMIM:612781
HP:0000118	Phenotypic abnormality	10661	KLF1	OMIM:613673
HP:0000118	Phenotypic abnormality	190	NR0B1	ORPHA:393
HP:0000118	Phenotypic abnormality	190	NR0B1	ORPHA:251510
HP:0000118	Phenotypic abnormality	7026	NR2F2	OMIM:618901
HP:0000118	Phenotypic abnormality	1646	AKR1C2	OMIM:614279
HP:0000118	Phenotypic abnormality	1109	AKR1C4	OMIM:614279
HP:0000118	Phenotypic abnormality	284654	RSPO1	OMIM:610644
HP:0000118	Phenotypic abnormality	6845	VAMP7	ORPHA:251510
HP:0000118	Phenotypic abnormality	4214	MAP3K1	ORPHA:251510
HP:0000118	Phenotypic abnormality	58524	DMRT3	ORPHA:251510
HP:0000118	Phenotypic abnormality	3293	HSD17B3	ORPHA:752
HP:0000118	Phenotypic abnormality	6716	SRD5A2	ORPHA:753
HP:0000118	Phenotypic abnormality	5337	PLD1	OMIM:212093
HP:0000118	Phenotypic abnormality	64321	SOX17	OMIM:613674
HP:0000118	Phenotypic abnormality	10861	SLC26A1	OMIM:167030
HP:0000118	Phenotypic abnormality	3655	ITGA6	ORPHA:79403
HP:0000118	Phenotypic abnormality	183	AGT	OMIM:267430
HP:0000118	Phenotypic abnormality	185	AGTR1	OMIM:267430
HP:0000118	Phenotypic abnormality	1636	ACE	OMIM:267430
HP:0000118	Phenotypic abnormality	9860	LRIG2	OMIM:615112
HP:0000118	Phenotypic abnormality	9860	LRIG2	ORPHA:2704
HP:0000118	Phenotypic abnormality	11136	SLC7A9	OMIM:220100
HP:0000118	Phenotypic abnormality	4312	MMP1	ORPHA:79408
HP:0000118	Phenotypic abnormality	9380	GRHPR	OMIM:260000
HP:0000118	Phenotypic abnormality	9380	GRHPR	ORPHA:93599
HP:0000118	Phenotypic abnormality	6523	SLC5A1	ORPHA:35710
HP:0000118	Phenotypic abnormality	55034	MOCOS	OMIM:603592
HP:0000118	Phenotypic abnormality	9071	CLDN10	OMIM:617671
HP:0000118	Phenotypic abnormality	54757	FAM20A	OMIM:204690
HP:0000118	Phenotypic abnormality	54757	FAM20A	ORPHA:1031
HP:0000118	Phenotypic abnormality	1175	AP2S1	OMIM:600740
HP:0000118	Phenotypic abnormality	60495	HPSE2	ORPHA:2704
HP:0000118	Phenotypic abnormality	147912	SIX5	ORPHA:107
HP:0000118	Phenotypic abnormality	147912	SIX5	OMIM:610896
HP:0000118	Phenotypic abnormality	3931	LCAT	OMIM:245900
HP:0000118	Phenotypic abnormality	7369	UMOD	OMIM:162000
HP:0000118	Phenotypic abnormality	54916	TMEM260	OMIM:617478
HP:0000118	Phenotypic abnormality	3426	CFI	OMIM:610984
HP:0000118	Phenotypic abnormality	9247	GCM2	ORPHA:99879
HP:0000118	Phenotypic abnormality	4627	MYH9	ORPHA:182050
HP:0000118	Phenotypic abnormality	1147	CHUK	OMIM:613630
HP:0000118	Phenotypic abnormality	6092	ROBO2	OMIM:610878
HP:0000118	Phenotypic abnormality	9096	TBX18	OMIM:143400
HP:0000118	Phenotypic abnormality	5972	REN	OMIM:613092
HP:0000118	Phenotypic abnormality	10907	TXNL4A	OMIM:608572
HP:0000118	Phenotypic abnormality	8204	NRIP1	OMIM:618270
HP:0000118	Phenotypic abnormality	56606	SLC2A9	ORPHA:94088
HP:0000118	Phenotypic abnormality	116085	SLC22A12	ORPHA:94088
HP:0000118	Phenotypic abnormality	25959	KANK2	OMIM:617783
HP:0000118	Phenotypic abnormality	4069	LYZ	OMIM:105200
HP:0000118	Phenotypic abnormality	2243	FGA	OMIM:105200
HP:0000118	Phenotypic abnormality	2321	FLT1	ORPHA:275555
HP:0000118	Phenotypic abnormality	219736	STOX1	ORPHA:275555
HP:0000118	Phenotypic abnormality	10699	CORIN	ORPHA:275555
HP:0000118	Phenotypic abnormality	6288	SAA1	ORPHA:85445
HP:0000118	Phenotypic abnormality	4179	CD46	OMIM:612922
HP:0000118	Phenotypic abnormality	4179	CD46	ORPHA:244242
HP:0000118	Phenotypic abnormality	7056	THBD	OMIM:612926
HP:0000118	Phenotypic abnormality	101101692	HELLPAR	ORPHA:244242
HP:0000118	Phenotypic abnormality	29927	SEC61A1	OMIM:617056
HP:0000118	Phenotypic abnormality	55243	KIRREL1	OMIM:619201
HP:0000118	Phenotypic abnormality	3973	LHCGR	ORPHA:3000
HP:0000118	Phenotypic abnormality	8651	SOCS1	OMIM:619375
HP:0000118	Phenotypic abnormality	3716	JAK1	OMIM:618999
HP:0000118	Phenotypic abnormality	708	C1QBP	OMIM:617713
HP:0000118	Phenotypic abnormality	10916	MAGED2	OMIM:300971
HP:0000118	Phenotypic abnormality	11181	TREH	ORPHA:103909
HP:0000118	Phenotypic abnormality	84548	TMEM185A	ORPHA:100974
HP:0000118	Phenotypic abnormality	50617	ATP6V0A4	OMIM:602722
HP:0000118	Phenotypic abnormality	112817	HOGA1	ORPHA:93600
HP:0000118	Phenotypic abnormality	55191	NADSYN1	OMIM:618845
HP:0000118	Phenotypic abnormality	7498	XDH	OMIM:278300
HP:0000118	Phenotypic abnormality	5054	SERPINE1	ORPHA:465
HP:0000118	Phenotypic abnormality	5054	SERPINE1	OMIM:613329
HP:0000118	Phenotypic abnormality	3998	LMAN1	ORPHA:35909
HP:0000118	Phenotypic abnormality	90411	MCFD2	ORPHA:35909
HP:0000118	Phenotypic abnormality	90411	MCFD2	OMIM:613625
HP:0000118	Phenotypic abnormality	5568	PRKACG	OMIM:616176
HP:0000118	Phenotypic abnormality	10235	RASGRP2	OMIM:615888
HP:0000118	Phenotypic abnormality	51206	GP6	OMIM:614201
HP:0000118	Phenotypic abnormality	2160	F11	ORPHA:329
HP:0000118	Phenotypic abnormality	342618	SLFN14	OMIM:616913
HP:0000118	Phenotypic abnormality	83932	SPRTN	OMIM:616200
HP:0000118	Phenotypic abnormality	2155	F7	ORPHA:327
HP:0000118	Phenotypic abnormality	23438	HARS2	OMIM:614926
HP:0000118	Phenotypic abnormality	164045	HFM1	OMIM:615724
HP:0000118	Phenotypic abnormality	3588	IL10RB	OMIM:612567
HP:0000118	Phenotypic abnormality	24145	PANX1	ORPHA:488191
HP:0000118	Phenotypic abnormality	494551	WEE2	ORPHA:488191
HP:0000118	Phenotypic abnormality	197135	PATL2	ORPHA:488191
HP:0000118	Phenotypic abnormality	347688	TUBB8	ORPHA:488191
HP:0000118	Phenotypic abnormality	4174	MCM5	OMIM:617564
HP:0000118	Phenotypic abnormality	81788	NUAK2	OMIM:619452
HP:0000118	Phenotypic abnormality	147495	APCDD1	OMIM:605389
HP:0000118	Phenotypic abnormality	1825	DSC3	OMIM:613102
HP:0000118	Phenotypic abnormality	79983	POF1B	OMIM:300604
HP:0000118	Phenotypic abnormality	3229	HOXC13	OMIM:614931
HP:0000118	Phenotypic abnormality	1739	DLG1	ORPHA:199306
HP:0000118	Phenotypic abnormality	9411	ARHGAP29	ORPHA:199306
HP:0000118	Phenotypic abnormality	25885	POLR1A	OMIM:616462
HP:0000118	Phenotypic abnormality	7314	UBB	ORPHA:99772
HP:0000118	Phenotypic abnormality	57822	GRHL3	ORPHA:99772
HP:0000118	Phenotypic abnormality	3373	HYAL1	OMIM:601492
HP:0000118	Phenotypic abnormality	100128927	ZBTB42	OMIM:616248
HP:0000118	Phenotypic abnormality	170692	ADAMTS18	OMIM:615458
HP:0000118	Phenotypic abnormality	117531	TMC1	OMIM:606705
HP:0000118	Phenotypic abnormality	56616	DIABLO	OMIM:614152
HP:0000118	Phenotypic abnormality	9885	OSBPL2	OMIM:616340
HP:0000118	Phenotypic abnormality	407053	MIR96	OMIM:613074
HP:0000118	Phenotypic abnormality	125336	LOXHD1	OMIM:613079
HP:0000118	Phenotypic abnormality	80736	SLC44A4	OMIM:617606
HP:0000118	Phenotypic abnormality	152137	CCDC50	OMIM:607453
HP:0000118	Phenotypic abnormality	22953	P2RX2	OMIM:608224
HP:0000118	Phenotypic abnormality	9132	KCNQ4	OMIM:600101
HP:0000118	Phenotypic abnormality	253827	MSRB3	OMIM:613718
HP:0000118	Phenotypic abnormality	23558	WBP2	OMIM:617639
HP:0000118	Phenotypic abnormality	64787	EPS8L2	OMIM:617637
HP:0000118	Phenotypic abnormality	389207	GRXCR1	OMIM:613285
HP:0000118	Phenotypic abnormality	23562	CLDN14	OMIM:614035
HP:0000118	Phenotypic abnormality	5459	POU4F3	OMIM:602459
HP:0000118	Phenotypic abnormality	51475	CABP2	OMIM:614899
HP:0000118	Phenotypic abnormality	491	ATP2B2	OMIM:601386
HP:0000118	Phenotypic abnormality	153562	MARVELD2	OMIM:610153
HP:0000118	Phenotypic abnormality	107	ADCY1	OMIM:610154
HP:0000118	Phenotypic abnormality	3082	HGF	OMIM:608265
HP:0000118	Phenotypic abnormality	144568	A2ML1	OMIM:166760
HP:0000118	Phenotypic abnormality	10194	TSHZ1	OMIM:607842
HP:0000118	Phenotypic abnormality	2549	GAB1	OMIM:605428
HP:0000118	Phenotypic abnormality	1428	CRYM	OMIM:616357
HP:0000118	Phenotypic abnormality	5357	PLS1	OMIM:618787
HP:0000118	Phenotypic abnormality	7007	TECTA	OMIM:603629
HP:0000118	Phenotypic abnormality	7007	TECTA	OMIM:601543
HP:0000118	Phenotypic abnormality	9294	S1PR2	OMIM:610419
HP:0000118	Phenotypic abnormality	5137	PDE1C	OMIM:618140
HP:0000118	Phenotypic abnormality	100127206	MINAR2	OMIM:620238
HP:0000118	Phenotypic abnormality	283310	OTOGL	OMIM:614944
HP:0000118	Phenotypic abnormality	146183	OTOA	OMIM:607039
HP:0000118	Phenotypic abnormality	375611	SLC26A5	OMIM:613865
HP:0000118	Phenotypic abnormality	645104	CLRN2	OMIM:619174
HP:0000118	Phenotypic abnormality	90665	TBL1Y	OMIM:400047
HP:0000118	Phenotypic abnormality	2103	ESRRB	OMIM:608565
HP:0000118	Phenotypic abnormality	286676	ILDR1	OMIM:609646
HP:0000118	Phenotypic abnormality	9455	HOMER2	OMIM:616707
HP:0000118	Phenotypic abnormality	3371	TNC	OMIM:615629
HP:0000118	Phenotypic abnormality	8763	CD164	OMIM:616969
HP:0000118	Phenotypic abnormality	9381	OTOF	OMIM:601071
HP:0000118	Phenotypic abnormality	64699	TMPRSS3	OMIM:601072
HP:0000118	Phenotypic abnormality	388551	CEACAM16	OMIM:618410
HP:0000118	Phenotypic abnormality	388551	CEACAM16	OMIM:614614
HP:0000118	Phenotypic abnormality	84173	ELMOD3	OMIM:619500
HP:0000118	Phenotypic abnormality	23262	PPIP5K2	OMIM:618422
HP:0000118	Phenotypic abnormality	10750	GRAP	OMIM:618456
HP:0000118	Phenotypic abnormality	124976	SPNS2	OMIM:618457
HP:0000118	Phenotypic abnormality	53405	CLIC5	OMIM:616042
HP:0000118	Phenotypic abnormality	124842	TMEM132E	OMIM:618481
HP:0000118	Phenotypic abnormality	55814	BDP1	OMIM:618257
HP:0000118	Phenotypic abnormality	494513	PJVK	OMIM:610220
HP:0000118	Phenotypic abnormality	222662	LHFPL5	OMIM:610265
HP:0000118	Phenotypic abnormality	246213	SLC17A8	OMIM:605583
HP:0000118	Phenotypic abnormality	1687	GSDME	OMIM:600994
HP:0000118	Phenotypic abnormality	10205	MPZL2	OMIM:618145
HP:0000118	Phenotypic abnormality	4171	MCM2	OMIM:616968
HP:0000118	Phenotypic abnormality	53904	MYO3A	OMIM:607101
HP:0000118	Phenotypic abnormality	79966	SCD5	OMIM:619086
HP:0000118	Phenotypic abnormality	4646	MYO6	OMIM:606346
HP:0000118	Phenotypic abnormality	163183	SYNE4	OMIM:615540
HP:0000118	Phenotypic abnormality	387700	SLC16A12	OMIM:612018
HP:0000118	Phenotypic abnormality	402	ARL2	OMIM:619082
HP:0000118	Phenotypic abnormality	7003	TEAD1	OMIM:108985
HP:0000118	Phenotypic abnormality	57007	ACKR3	OMIM:619215
HP:0000118	Phenotypic abnormality	2250	FGF5	OMIM:190330
HP:0000118	Phenotypic abnormality	1412	CRYBA2	OMIM:115900
HP:0000118	Phenotypic abnormality	23424	TDRD7	OMIM:613887
HP:0000118	Phenotypic abnormality	1417	CRYBB3	OMIM:609741
HP:0000118	Phenotypic abnormality	23094	SIPA1L3	OMIM:616851
HP:0000118	Phenotypic abnormality	8419	BFSP2	OMIM:611597
HP:0000118	Phenotypic abnormality	2651	GCNT2	OMIM:116700
HP:0000118	Phenotypic abnormality	735	C9	OMIM:615591
HP:0000118	Phenotypic abnormality	83872	HMCN1	OMIM:603075
HP:0000118	Phenotypic abnormality	220	ALDH1A3	ORPHA:35612
HP:0000118	Phenotypic abnormality	8754	ADAM9	ORPHA:1872
HP:0000118	Phenotypic abnormality	128338	DRAM2	ORPHA:1872
HP:0000118	Phenotypic abnormality	128338	DRAM2	OMIM:616502
HP:0000118	Phenotypic abnormality	2978	GUCA1A	ORPHA:1872
HP:0000118	Phenotypic abnormality	2978	GUCA1A	ORPHA:1871
HP:0000118	Phenotypic abnormality	2978	GUCA1A	OMIM:602093
HP:0000118	Phenotypic abnormality	83394	PITPNM3	ORPHA:1872
HP:0000118	Phenotypic abnormality	83394	PITPNM3	OMIM:600977
HP:0000118	Phenotypic abnormality	23093	TTLL5	ORPHA:1872
HP:0000118	Phenotypic abnormality	169522	KCNV2	OMIM:610356
HP:0000118	Phenotypic abnormality	200576	PIKFYVE	OMIM:121850
HP:0000118	Phenotypic abnormality	3850	KRT3	OMIM:618767
HP:0000118	Phenotypic abnormality	11190	CEP250	OMIM:618358
HP:0000118	Phenotypic abnormality	388531	RGS9BP	ORPHA:75374
HP:0000118	Phenotypic abnormality	23155	CLCC1	OMIM:609913
HP:0000118	Phenotypic abnormality	726	CAPN5	OMIM:193235
HP:0000118	Phenotypic abnormality	3982	LIM2	OMIM:615277
HP:0000118	Phenotypic abnormality	440435	GPR179	OMIM:614565
HP:0000118	Phenotypic abnormality	440435	GPR179	ORPHA:215
HP:0000118	Phenotypic abnormality	345193	LRIT3	ORPHA:215
HP:0000118	Phenotypic abnormality	9187	SLC24A1	ORPHA:215
HP:0000118	Phenotypic abnormality	54765	TRIM44	OMIM:617142
HP:0000118	Phenotypic abnormality	54765	TRIM44	ORPHA:250923
HP:0000118	Phenotypic abnormality	55229	PANK4	OMIM:619593
HP:0000118	Phenotypic abnormality	1816	DRD5	OMIM:606798
HP:0000118	Phenotypic abnormality	646960	PRSS56	OMIM:613517
HP:0000118	Phenotypic abnormality	7837	PXDN	OMIM:269400
HP:0000118	Phenotypic abnormality	30062	RAX	OMIM:611038
HP:0000118	Phenotypic abnormality	6742	SSBP1	OMIM:165510
HP:0000118	Phenotypic abnormality	7123	CLEC3B	OMIM:619977
HP:0000118	Phenotypic abnormality	4140	MARK3	OMIM:618283
HP:0000118	Phenotypic abnormality	9622	KLK4	OMIM:204700
HP:0000118	Phenotypic abnormality	64388	GREM2	OMIM:617275
HP:0000118	Phenotypic abnormality	10117	ENAM	OMIM:204650
HP:0000118	Phenotypic abnormality	64094	SMOC2	OMIM:125400
HP:0000118	Phenotypic abnormality	93650	ACP4	OMIM:617297
HP:0000118	Phenotypic abnormality	286077	FAM83H	OMIM:130900
HP:0000118	Phenotypic abnormality	7341	SUMO1	ORPHA:99798
HP:0000118	Phenotypic abnormality	7039	TGFA	ORPHA:99798
HP:0000118	Phenotypic abnormality	256764	WDR72	OMIM:613211
HP:0000118	Phenotypic abnormality	80320	SP6	OMIM:620104
HP:0000118	Phenotypic abnormality	258	AMBN	OMIM:616270
HP:0000118	Phenotypic abnormality	152816	ODAPH	OMIM:614832
HP:0000118	Phenotypic abnormality	401138	AMTN	OMIM:617607
HP:0000118	Phenotypic abnormality	2289	FKBP5	OMIM:608516
HP:0000118	Phenotypic abnormality	8863	PER3	OMIM:616882
HP:0000118	Phenotypic abnormality	8864	PER2	OMIM:604348
HP:0000118	Phenotypic abnormality	340990	OTOG	OMIM:614945
HP:0000118	Phenotypic abnormality	286262	TPRN	OMIM:613307
HP:0000118	Phenotypic abnormality	1815	DRD4	OMIM:143465
HP:0000118	Phenotypic abnormality	2661	GDF9	OMIM:618014
HP:0000118	Phenotypic abnormality	135935	NOBOX	OMIM:611548
HP:0000118	Phenotypic abnormality	9075	CLDN2	OMIM:301060
HP:0000118	Phenotypic abnormality	353238	PADI6	OMIM:617234
HP:0000118	Phenotypic abnormality	255101	CFAP65	OMIM:618664
HP:0000118	Phenotypic abnormality	8632	DNAH17	OMIM:618643
HP:0000118	Phenotypic abnormality	140732	SUN5	ORPHA:529970
HP:0000118	Phenotypic abnormality	83449	PMFBP1	ORPHA:529970
HP:0000118	Phenotypic abnormality	124404	SEPTIN12	OMIM:614822
HP:0000118	Phenotypic abnormality	286464	CFAP47	OMIM:301059
HP:0000118	Phenotypic abnormality	22873	DZIP1	OMIM:619102
HP:0000118	Phenotypic abnormality	84071	ARMC2	OMIM:618433
HP:0000118	Phenotypic abnormality	118491	CFAP70	OMIM:618670
HP:0000118	Phenotypic abnormality	117144	CATSPER1	OMIM:612997
HP:0000118	Phenotypic abnormality	157855	KCNU1	OMIM:620196
HP:0000118	Phenotypic abnormality	3547	IGSF1	OMIM:300888
HP:0000118	Phenotypic abnormality	3290	HSD11B1	OMIM:614662
HP:0000118	Phenotypic abnormality	11077	HSF2BP	OMIM:619245
HP:0000118	Phenotypic abnormality	1730	DIAPH2	OMIM:300511
HP:0000118	Phenotypic abnormality	799	CALCR	OMIM:166710
HP:0000118	Phenotypic abnormality	8572	PDLIM4	OMIM:166710
HP:0000118	Phenotypic abnormality	7780	SLC30A2	OMIM:608118
HP:0000118	Phenotypic abnormality	1508	CTSB	ORPHA:50943
HP:0000118	Phenotypic abnormality	6915	TBXA2R	OMIM:614009
HP:0000118	Phenotypic abnormality	23385	NCSTN	OMIM:142690
HP:0000118	Phenotypic abnormality	362	AQP5	ORPHA:2337
HP:0000118	Phenotypic abnormality	64377	CHST8	OMIM:616265
HP:0000118	Phenotypic abnormality	133396	IL31RA	OMIM:613955
HP:0000118	Phenotypic abnormality	2224	FDPS	ORPHA:79152
HP:0000118	Phenotypic abnormality	63910	SLC17A9	ORPHA:79152
HP:0000118	Phenotypic abnormality	4308	TRPM1	OMIM:613216
HP:0000118	Phenotypic abnormality	5784	PTPN14	OMIM:613611
HP:0000118	Phenotypic abnormality	7075	TIE1	OMIM:619401
HP:0000118	Phenotypic abnormality	1638	DCT	OMIM:619165
HP:0000118	Phenotypic abnormality	83938	LRMDA	OMIM:615179
HP:0000118	Phenotypic abnormality	1369	CPN1	OMIM:212070
HP:0000118	Phenotypic abnormality	23086	EXPH5	OMIM:615028
HP:0000118	Phenotypic abnormality	10457	GPNMB	OMIM:617920
HP:0000118	Phenotypic abnormality	388698	FLG2	OMIM:618084
HP:0000118	Phenotypic abnormality	10654	PMVK	OMIM:175800
HP:0000118	Phenotypic abnormality	4597	MVD	OMIM:614714
HP:0000118	Phenotypic abnormality	30817	ADGRE2	OMIM:125630
HP:0000118	Phenotypic abnormality	27022	FOXD3	OMIM:607836
HP:0000118	Phenotypic abnormality	28234	SLCO1B3	ORPHA:3111
HP:0000118	Phenotypic abnormality	10599	SLCO1B1	ORPHA:3111
HP:0000118	Phenotypic abnormality	79755	ZNF750	OMIM:610227
HP:0000118	Phenotypic abnormality	9563	H6PD	OMIM:604931
HP:0000118	Phenotypic abnormality	11081	KERA	OMIM:217300
HP:0000118	Phenotypic abnormality	8787	RGS9	OMIM:608415
HP:0000118	Phenotypic abnormality	6591	SNAI2	ORPHA:895
HP:0000118	Phenotypic abnormality	6591	SNAI2	ORPHA:2884
HP:0000118	Phenotypic abnormality	4254	KITLG	ORPHA:895
HP:0000118	Phenotypic abnormality	4254	KITLG	OMIM:619947
HP:0000118	Phenotypic abnormality	80153	EDC3	OMIM:616460
HP:0000118	Phenotypic abnormality	8518	ELP1	ORPHA:1764
HP:0000118	Phenotypic abnormality	71	ACTG1	ORPHA:2995
HP:0000118	Phenotypic abnormality	60	ACTB	ORPHA:2995
HP:0000118	Phenotypic abnormality	4157	MC1R	ORPHA:79432
HP:0000118	Phenotypic abnormality	4982	TNFRSF11B	OMIM:239000
HP:0000118	Phenotypic abnormality	2677	GGCX	OMIM:610842
HP:0000118	Phenotypic abnormality	2677	GGCX	ORPHA:91135
HP:0000118	Phenotypic abnormality	6609	SMPD1	OMIM:607616
HP:0000118	Phenotypic abnormality	22926	ATF6	ORPHA:49382
HP:0000118	Phenotypic abnormality	5146	PDE6C	ORPHA:49382
HP:0000118	Phenotypic abnormality	5149	PDE6H	ORPHA:49382
HP:0000118	Phenotypic abnormality	2780	GNAT2	ORPHA:49382
HP:0000118	Phenotypic abnormality	1261	CNGA3	ORPHA:49382
HP:0000118	Phenotypic abnormality	8813	DPM1	OMIM:608799
HP:0000118	Phenotypic abnormality	4286	MITF	ORPHA:897
HP:0000118	Phenotypic abnormality	9382	COG1	ORPHA:263508
HP:0000118	Phenotypic abnormality	1806	DPYD	ORPHA:1675
HP:0000118	Phenotypic abnormality	5080	PAX6	ORPHA:2334
HP:0000118	Phenotypic abnormality	220202	ATOH7	ORPHA:91495
HP:0000118	Phenotypic abnormality	3166	HMX1	OMIM:612109
HP:0000118	Phenotypic abnormality	406987	MIR204	OMIM:616722
HP:0000118	Phenotypic abnormality	84131	CEP78	OMIM:617236
HP:0000118	Phenotypic abnormality	6247	RS1	OMIM:312700
HP:0000118	Phenotypic abnormality	284217	LAMA1	OMIM:615960
HP:0000118	Phenotypic abnormality	284217	LAMA1	ORPHA:370022
HP:0000118	Phenotypic abnormality	57709	SLC7A14	OMIM:615725
HP:0000118	Phenotypic abnormality	51095	TRNT1	OMIM:616959
HP:0000118	Phenotypic abnormality	760	CA2	ORPHA:2785
HP:0000118	Phenotypic abnormality	128178	EDARADD	OMIM:224900
HP:0000118	Phenotypic abnormality	10913	EDAR	OMIM:224900
HP:0000118	Phenotypic abnormality	1896	EDA	OMIM:305100
HP:0000118	Phenotypic abnormality	63915	BLOC1S5	OMIM:619172
HP:0000118	Phenotypic abnormality	57724	EPG5	OMIM:242840
HP:0000118	Phenotypic abnormality	8943	AP3D1	OMIM:617050
HP:0000118	Phenotypic abnormality	8943	AP3D1	ORPHA:1000
HP:0000118	Phenotypic abnormality	8943	AP3D1	ORPHA:54
HP:0000118	Phenotypic abnormality	7299	TYR	OMIM:203100
HP:0000118	Phenotypic abnormality	7299	TYR	ORPHA:79431
HP:0000118	Phenotypic abnormality	8546	AP3B1	OMIM:608233
HP:0000118	Phenotypic abnormality	1130	LYST	ORPHA:352723
HP:0000118	Phenotypic abnormality	1130	LYST	OMIM:214500
HP:0000118	Phenotypic abnormality	4935	GPR143	ORPHA:54
HP:0000118	Phenotypic abnormality	4935	GPR143	OMIM:300500
HP:0000118	Phenotypic abnormality	89781	HPS4	OMIM:614073
HP:0000118	Phenotypic abnormality	11234	HPS5	OMIM:614074
HP:0000118	Phenotypic abnormality	26258	BLOC1S6	OMIM:614171
HP:0000118	Phenotypic abnormality	388552	BLOC1S3	OMIM:614077
HP:0000118	Phenotypic abnormality	79803	HPS6	OMIM:614075
HP:0000118	Phenotypic abnormality	84062	DTNBP1	OMIM:614076
HP:0000118	Phenotypic abnormality	51151	SLC45A2	ORPHA:79435
HP:0000118	Phenotypic abnormality	4007	PRICKLE3	OMIM:308905
HP:0000118	Phenotypic abnormality	336	APOA2	OMIM:143890
HP:0000118	Phenotypic abnormality	2053	EPHX2	OMIM:143890
HP:0000118	Phenotypic abnormality	10842	PPP1R17	OMIM:143890
HP:0000118	Phenotypic abnormality	2538	G6PC1	OMIM:232200
HP:0000118	Phenotypic abnormality	4023	LPL	OMIM:144250
HP:0000118	Phenotypic abnormality	7274	TTPA	OMIM:277460
HP:0000118	Phenotypic abnormality	161742	SPRED1	ORPHA:137605
HP:0000118	Phenotypic abnormality	348	APOE	ORPHA:412
HP:0000118	Phenotypic abnormality	335	APOA1	ORPHA:425
HP:0000118	Phenotypic abnormality	5309	PITX3	OMIM:107250
HP:0000118	Phenotypic abnormality	26137	ZBTB20	OMIM:259050
HP:0000118	Phenotypic abnormality	9445	ITM2B	OMIM:117300
HP:0000118	Phenotypic abnormality	7431	VIM	OMIM:116300
HP:0000118	Phenotypic abnormality	55714	TENM3	OMIM:615145
HP:0000118	Phenotypic abnormality	9785	DHX38	OMIM:618220
HP:0000118	Phenotypic abnormality	25974	MMACHC	ORPHA:79282
HP:0000118	Phenotypic abnormality	7053	TGM3	OMIM:617251
HP:0000118	Phenotypic abnormality	112939	NACC1	ORPHA:500545
HP:0000118	Phenotypic abnormality	221496	LEMD2	OMIM:212500
HP:0000118	Phenotypic abnormality	64682	ANAPC1	OMIM:618625
HP:0000118	Phenotypic abnormality	64682	ANAPC1	ORPHA:221008
HP:0000118	Phenotypic abnormality	8974	P4HA2	ORPHA:397
HP:0000118	Phenotypic abnormality	7399	USH2A	OMIM:613809
HP:0000118	Phenotypic abnormality	7066	THPO	ORPHA:71493
HP:0000118	Phenotypic abnormality	4117	MAK	OMIM:614181
HP:0000118	Phenotypic abnormality	51816	ADA2	ORPHA:820
HP:0000118	Phenotypic abnormality	4292	MLH1	ORPHA:144
HP:0000118	Phenotypic abnormality	5395	PMS2	ORPHA:144
HP:0000118	Phenotypic abnormality	27030	MLH3	ORPHA:144
HP:0000118	Phenotypic abnormality	2956	MSH6	ORPHA:144
HP:0000118	Phenotypic abnormality	5378	PMS1	ORPHA:144
HP:0000118	Phenotypic abnormality	4436	MSH2	ORPHA:144
HP:0000118	Phenotypic abnormality	6011	GRK1	ORPHA:75382
HP:0000118	Phenotypic abnormality	64218	SEMA4A	ORPHA:440437
HP:0000118	Phenotypic abnormality	657	BMPR1A	ORPHA:440437
HP:0000118	Phenotypic abnormality	6224	RPS20	ORPHA:440437
HP:0000118	Phenotypic abnormality	84196	USP48	ORPHA:96253
HP:0000118	Phenotypic abnormality	9101	USP8	ORPHA:96253
HP:0000118	Phenotypic abnormality	64072	CDH23	ORPHA:96253
HP:0000118	Phenotypic abnormality	2908	NR3C1	ORPHA:96253
HP:0000118	Phenotypic abnormality	23370	ARHGEF18	OMIM:617433
HP:0000118	Phenotypic abnormality	4327	MMP19	OMIM:611543
HP:0000118	Phenotypic abnormality	1462	VCAN	OMIM:143200
HP:0000118	Phenotypic abnormality	55901	THSD1	ORPHA:231160
HP:0000118	Phenotypic abnormality	7049	TGFBR3	ORPHA:231160
HP:0000118	Phenotypic abnormality	1281	COL3A1	ORPHA:231160
HP:0000118	Phenotypic abnormality	83854	ANGPTL6	ORPHA:231160
HP:0000118	Phenotypic abnormality	2022	ENG	ORPHA:231160
HP:0000118	Phenotypic abnormality	23426	GRIP1	OMIM:617667
HP:0000118	Phenotypic abnormality	23426	GRIP1	ORPHA:2052
HP:0000118	Phenotypic abnormality	341640	FREM2	OMIM:617666
HP:0000118	Phenotypic abnormality	341640	FREM2	OMIM:123570
HP:0000118	Phenotypic abnormality	341640	FREM2	ORPHA:2052
HP:0000118	Phenotypic abnormality	158326	FREM1	ORPHA:2717
HP:0000118	Phenotypic abnormality	158326	FREM1	OMIM:248450
HP:0000118	Phenotypic abnormality	10586	MAB21L2	OMIM:615877
HP:0000118	Phenotypic abnormality	80144	FRAS1	ORPHA:2052
HP:0000118	Phenotypic abnormality	80144	FRAS1	OMIM:219000
HP:0000118	Phenotypic abnormality	2706	GJB2	OMIM:148210
HP:0000118	Phenotypic abnormality	54892	NCAPG2	OMIM:618460
HP:0000118	Phenotypic abnormality	7078	TIMP3	ORPHA:59181
HP:0000118	Phenotypic abnormality	6017	RLBP1	ORPHA:85128
HP:0000118	Phenotypic abnormality	83959	SLC4A11	OMIM:217400
HP:0000118	Phenotypic abnormality	83959	SLC4A11	OMIM:217700
HP:0000118	Phenotypic abnormality	83959	SLC4A11	ORPHA:1490
HP:0000118	Phenotypic abnormality	83959	SLC4A11	OMIM:613268
HP:0000118	Phenotypic abnormality	4166	CHST6	OMIM:217800
HP:0000118	Phenotypic abnormality	6935	ZEB1	OMIM:613270
HP:0000118	Phenotypic abnormality	6935	ZEB1	OMIM:609141
HP:0000118	Phenotypic abnormality	4070	TACSTD2	OMIM:204870
HP:0000118	Phenotypic abnormality	1296	COL8A2	OMIM:609140
HP:0000118	Phenotypic abnormality	1296	COL8A2	OMIM:136800
HP:0000118	Phenotypic abnormality	1634	DCN	OMIM:610048
HP:0000118	Phenotypic abnormality	29914	UBIAD1	OMIM:121800
HP:0000118	Phenotypic abnormality	1308	COL17A1	ORPHA:293381
HP:0000118	Phenotypic abnormality	26007	TKFC	ORPHA:1369
HP:0000118	Phenotypic abnormality	55750	AGK	ORPHA:1369
HP:0000118	Phenotypic abnormality	2776	GNAQ	ORPHA:3205
HP:0000118	Phenotypic abnormality	2652	OPN1MW	ORPHA:16
HP:0000118	Phenotypic abnormality	5956	OPN1LW	ORPHA:16
HP:0000118	Phenotypic abnormality	3859	KRT12	OMIM:122100
HP:0000118	Phenotypic abnormality	123624	AGBL1	OMIM:615523
HP:0000118	Phenotypic abnormality	4591	TRIM37	OMIM:253250
HP:0000118	Phenotypic abnormality	1413	CRYBA4	ORPHA:1377
HP:0000118	Phenotypic abnormality	1409	CRYAA	ORPHA:1377
HP:0000118	Phenotypic abnormality	1415	CRYBB2	ORPHA:1377
HP:0000118	Phenotypic abnormality	1414	CRYBB1	ORPHA:1377
HP:0000118	Phenotypic abnormality	1420	CRYGC	ORPHA:1377
HP:0000118	Phenotypic abnormality	1421	CRYGD	ORPHA:1377
HP:0000118	Phenotypic abnormality	80781	COL18A1	OMIM:267750
HP:0000118	Phenotypic abnormality	4016	LOXL1	OMIM:177650
HP:0000118	Phenotypic abnormality	26610	ELP4	OMIM:617141
HP:0000118	Phenotypic abnormality	55214	P3H2	OMIM:614292
HP:0000118	Phenotypic abnormality	91851	CHRDL1	OMIM:309300
HP:0000118	Phenotypic abnormality	6297	SALL2	OMIM:216820
HP:0000118	Phenotypic abnormality	7287	TULP1	OMIM:600132
HP:0000118	Phenotypic abnormality	7287	TULP1	OMIM:613843
HP:0000118	Phenotypic abnormality	26121	PRPF31	OMIM:600138
HP:0000118	Phenotypic abnormality	10594	PRPF8	OMIM:600059
HP:0000118	Phenotypic abnormality	1121	CHM	OMIM:303100
HP:0000118	Phenotypic abnormality	5949	RBP3	OMIM:615233
HP:0000118	Phenotypic abnormality	5949	RBP3	OMIM:268000
HP:0000118	Phenotypic abnormality	22901	ARSG	OMIM:618144
HP:0000118	Phenotypic abnormality	285440	CYP4V2	ORPHA:41751
HP:0000118	Phenotypic abnormality	285440	CYP4V2	OMIM:210370
HP:0000118	Phenotypic abnormality	6295	SAG	OMIM:620228
HP:0000118	Phenotypic abnormality	84839	RAX2	OMIM:620102
HP:0000118	Phenotypic abnormality	23600	AMACR	OMIM:614307
HP:0000118	Phenotypic abnormality	6094	ROM1	OMIM:608133
HP:0000118	Phenotypic abnormality	6094	ROM1	OMIM:268000
HP:0000118	Phenotypic abnormality	9227	LRAT	OMIM:268000
HP:0000118	Phenotypic abnormality	7401	CLRN1	OMIM:268000
HP:0000118	Phenotypic abnormality	5148	PDE6G	OMIM:268000
HP:0000118	Phenotypic abnormality	5148	PDE6G	OMIM:613582
HP:0000118	Phenotypic abnormality	1259	CNGA1	OMIM:268000
HP:0000118	Phenotypic abnormality	23746	AIPL1	OMIM:268000
HP:0000118	Phenotypic abnormality	1406	CRX	OMIM:268000
HP:0000118	Phenotypic abnormality	1406	CRX	OMIM:120970
HP:0000118	Phenotypic abnormality	6101	RP1	OMIM:180100
HP:0000118	Phenotypic abnormality	92211	CDHR1	OMIM:613660
HP:0000118	Phenotypic abnormality	3420	IDH3B	OMIM:612572
HP:0000118	Phenotypic abnormality	24148	PRPF6	OMIM:613983
HP:0000118	Phenotypic abnormality	92840	REEP6	OMIM:617304
HP:0000118	Phenotypic abnormality	10461	MERTK	OMIM:613862
HP:0000118	Phenotypic abnormality	79947	DHDDS	OMIM:613861
HP:0000118	Phenotypic abnormality	9128	PRPF4	OMIM:615922
HP:0000118	Phenotypic abnormality	3419	IDH3A	OMIM:619007
HP:0000118	Phenotypic abnormality	9371	KIF3B	OMIM:618955
HP:0000118	Phenotypic abnormality	93589	CACNA2D4	OMIM:610478
HP:0000118	Phenotypic abnormality	84140	FAM161A	OMIM:606068
HP:0000118	Phenotypic abnormality	5191	PEX7	OMIM:614879
HP:0000118	Phenotypic abnormality	4942	OAT	ORPHA:414
HP:0000118	Phenotypic abnormality	55670	PEX26	ORPHA:772
HP:0000118	Phenotypic abnormality	5824	PEX19	ORPHA:772
HP:0000118	Phenotypic abnormality	8504	PEX3	ORPHA:772
HP:0000118	Phenotypic abnormality	9409	PEX16	ORPHA:772
HP:0000118	Phenotypic abnormality	8799	PEX11B	ORPHA:772
HP:0000118	Phenotypic abnormality	5830	PEX5	ORPHA:772
HP:0000118	Phenotypic abnormality	5193	PEX12	ORPHA:772
HP:0000118	Phenotypic abnormality	5194	PEX13	ORPHA:772
HP:0000118	Phenotypic abnormality	5195	PEX14	ORPHA:772
HP:0000118	Phenotypic abnormality	346007	EYS	OMIM:602772
HP:0000118	Phenotypic abnormality	6452	SH3BP2	OMIM:118400
HP:0000118	Phenotypic abnormality	326	AIRE	OMIM:240300
HP:0000118	Phenotypic abnormality	282809	POC1B	OMIM:615973
HP:0000118	Phenotypic abnormality	4901	NRL	OMIM:613750
HP:0000118	Phenotypic abnormality	10002	NR2E3	OMIM:611131
HP:0000118	Phenotypic abnormality	8565	YARS1	OMIM:619418
HP:0000118	Phenotypic abnormality	64834	ELOVL1	OMIM:618527
HP:0000118	Phenotypic abnormality	138050	HGSNAT	OMIM:616544
HP:0000118	Phenotypic abnormality	2779	GNAT1	OMIM:616389
HP:0000118	Phenotypic abnormality	80201	HKDC1	OMIM:619614
HP:0000118	Phenotypic abnormality	6100	RP9	OMIM:180104
HP:0000118	Phenotypic abnormality	55812	SPATA7	OMIM:604232
HP:0000118	Phenotypic abnormality	6102	RP2	OMIM:312600
HP:0000118	Phenotypic abnormality	84233	TMEM126A	OMIM:612989
HP:0000118	Phenotypic abnormality	3614	IMPDH1	OMIM:180105
HP:0000118	Phenotypic abnormality	1678	TIMM8A	OMIM:304700
HP:0000118	Phenotypic abnormality	6103	RPGR	OMIM:300029
HP:0000118	Phenotypic abnormality	24	ABCA4	OMIM:601718
HP:0000118	Phenotypic abnormality	55857	KIZ	OMIM:615780
HP:0000118	Phenotypic abnormality	55624	POMGNT1	OMIM:617123
HP:0000118	Phenotypic abnormality	375298	CERKL	OMIM:608380
HP:0000118	Phenotypic abnormality	5995	RGR	OMIM:613769
HP:0000118	Phenotypic abnormality	4976	OPA1	ORPHA:1215
HP:0000118	Phenotypic abnormality	9653	HS2ST1	OMIM:619194
HP:0000118	Phenotypic abnormality	3299	HSF4	OMIM:116800
HP:0000118	Phenotypic abnormality	406960	MIR184	OMIM:614303
HP:0000118	Phenotypic abnormality	1285	COL4A3	OMIM:104200
HP:0000118	Phenotypic abnormality	57551	TAOK1	OMIM:619575
HP:0000118	Phenotypic abnormality	1419	CRYGB	OMIM:615188
HP:0000118	Phenotypic abnormality	84168	ANTXR1	OMIM:230740
HP:0000118	Phenotypic abnormality	1282	COL4A1	OMIM:180000
HP:0000118	Phenotypic abnormality	1282	COL4A1	OMIM:611773
HP:0000118	Phenotypic abnormality	1282	COL4A1	OMIM:175780
HP:0000118	Phenotypic abnormality	1804	DPP6	ORPHA:2514
HP:0000118	Phenotypic abnormality	1185	CLCN6	OMIM:619173
HP:0000118	Phenotypic abnormality	8777	MPDZ	OMIM:615219
HP:0000118	Phenotypic abnormality	324	APC	ORPHA:99818
HP:0000118	Phenotypic abnormality	146167	SLC38A8	OMIM:609218
HP:0000118	Phenotypic abnormality	92255	LMBRD2	OMIM:619694
HP:0000118	Phenotypic abnormality	3949	LDLR	ORPHA:391665
HP:0000118	Phenotypic abnormality	255738	PCSK9	ORPHA:391665
HP:0000118	Phenotypic abnormality	26119	LDLRAP1	ORPHA:391665
HP:0000118	Phenotypic abnormality	338	APOB	ORPHA:391665
HP:0000118	Phenotypic abnormality	64240	ABCG5	ORPHA:391665
HP:0000118	Phenotypic abnormality	64241	ABCG8	ORPHA:391665
HP:0000118	Phenotypic abnormality	493856	CISD2	OMIM:604928
HP:0000118	Phenotypic abnormality	91574	MTRFR	ORPHA:320375
HP:0000118	Phenotypic abnormality	1181	CLCN2	OMIM:615651
HP:0000118	Phenotypic abnormality	79639	TMEM53	OMIM:619727
HP:0000118	Phenotypic abnormality	189	AGXT	OMIM:259900
HP:0000118	Phenotypic abnormality	686	BTD	ORPHA:79241
HP:0000118	Phenotypic abnormality	2202	EFEMP1	ORPHA:98977
HP:0000118	Phenotypic abnormality	1545	CYP1B1	ORPHA:98977
HP:0000118	Phenotypic abnormality	4653	MYOC	ORPHA:98977
HP:0000118	Phenotypic abnormality	4519	MT-CYB	OMIM:535000
HP:0000118	Phenotypic abnormality	4539	MT-ND4L	OMIM:535000
HP:0000118	Phenotypic abnormality	10102	TSFM	OMIM:610505
HP:0000118	Phenotypic abnormality	7439	BEST1	ORPHA:1243
HP:0000118	Phenotypic abnormality	7439	BEST1	ORPHA:99000
HP:0000118	Phenotypic abnormality	50939	IMPG2	ORPHA:99000
HP:0000118	Phenotypic abnormality	3617	IMPG1	ORPHA:99000
HP:0000118	Phenotypic abnormality	1969	EPHA2	OMIM:116600
HP:0000118	Phenotypic abnormality	5456	POU3F4	ORPHA:1435
HP:0000118	Phenotypic abnormality	10992	SF3B2	OMIM:164210
HP:0000118	Phenotypic abnormality	261734	NPHP4	OMIM:606996
HP:0000118	Phenotypic abnormality	3769	KCNJ13	ORPHA:65
HP:0000118	Phenotypic abnormality	343035	RD3	ORPHA:65
HP:0000118	Phenotypic abnormality	145226	RDH12	ORPHA:65
HP:0000118	Phenotypic abnormality	64802	NMNAT1	ORPHA:65
HP:0000118	Phenotypic abnormality	10383	TUBB4B	ORPHA:65
HP:0000118	Phenotypic abnormality	85015	USP45	ORPHA:65
HP:0000118	Phenotypic abnormality	6121	RPE65	ORPHA:65
HP:0000118	Phenotypic abnormality	6121	RPE65	OMIM:613794
HP:0000118	Phenotypic abnormality	23418	CRB1	ORPHA:65
HP:0000118	Phenotypic abnormality	9657	IQCB1	ORPHA:65
HP:0000118	Phenotypic abnormality	3000	GUCY2D	ORPHA:65
HP:0000118	Phenotypic abnormality	167691	LCA5	ORPHA:65
HP:0000118	Phenotypic abnormality	4693	NDP	ORPHA:891
HP:0000118	Phenotypic abnormality	3257	HPS1	OMIM:203300
HP:0000118	Phenotypic abnormality	130557	ZNF513	OMIM:613617
HP:0000118	Phenotypic abnormality	4810	NHS	OMIM:302200
HP:0000118	Phenotypic abnormality	54714	CNGB3	OMIM:262300
HP:0000118	Phenotypic abnormality	114902	C1QTNF5	ORPHA:67042
HP:0000118	Phenotypic abnormality	778	CACNA1F	OMIM:300600
HP:0000118	Phenotypic abnormality	6809	STX3	OMIM:619446
HP:0000118	Phenotypic abnormality	8842	PROM1	OMIM:612095
HP:0000118	Phenotypic abnormality	7466	WFS1	OMIM:614296
HP:0000118	Phenotypic abnormality	6010	RHO	ORPHA:52427
HP:0000118	Phenotypic abnormality	5959	RDH5	ORPHA:52427
HP:0000118	Phenotypic abnormality	1287	COL4A5	OMIM:301050
HP:0000118	Phenotypic abnormality	5076	PAX2	OMIM:120330
HP:0000118	Phenotypic abnormality	23554	TSPAN12	OMIM:613310
HP:0000118	Phenotypic abnormality	8322	FZD4	OMIM:133780
HP:0000118	Phenotypic abnormality	79797	ZNF408	OMIM:616468
HP:0000118	Phenotypic abnormality	11277	TREX1	OMIM:192315
HP:0000118	Phenotypic abnormality	7045	TGFBI	OMIM:608471
HP:0000118	Phenotypic abnormality	7045	TGFBI	OMIM:607541
HP:0000118	Phenotypic abnormality	7045	TGFBI	OMIM:122200
HP:0000118	Phenotypic abnormality	7045	TGFBI	ORPHA:98964
HP:0000118	Phenotypic abnormality	5981	RFC1	OMIM:614575
HP:0000118	Phenotypic abnormality	4287	ATXN3	OMIM:109150
HP:0000118	Phenotypic abnormality	1938	EEF2	OMIM:609306
HP:0000118	Phenotypic abnormality	1938	EEF2	ORPHA:101112
HP:0000118	Phenotypic abnormality	55703	POLR3B	OMIM:614381
HP:0000118	Phenotypic abnormality	6311	ATXN2	OMIM:183090
HP:0000118	Phenotypic abnormality	6812	STXBP1	OMIM:612164
HP:0000118	Phenotypic abnormality	1200	TPP1	ORPHA:284324
HP:0000118	Phenotypic abnormality	1200	TPP1	OMIM:609270
HP:0000118	Phenotypic abnormality	55129	ANO10	ORPHA:284289
HP:0000118	Phenotypic abnormality	8913	CACNA1G	ORPHA:458803
HP:0000118	Phenotypic abnormality	8913	CACNA1G	OMIM:616795
HP:0000118	Phenotypic abnormality	7515	XRCC1	OMIM:617633
HP:0000118	Phenotypic abnormality	23533	PIK3R5	ORPHA:64753
HP:0000118	Phenotypic abnormality	23064	SETX	ORPHA:64753
HP:0000118	Phenotypic abnormality	23064	SETX	OMIM:606002
HP:0000118	Phenotypic abnormality	3752	KCND3	OMIM:607346
HP:0000118	Phenotypic abnormality	23203	PMPCA	OMIM:213200
HP:0000118	Phenotypic abnormality	57410	SCYL1	ORPHA:466794
HP:0000118	Phenotypic abnormality	5582	PRKCG	ORPHA:98763
HP:0000118	Phenotypic abnormality	1822	ATN1	ORPHA:101
HP:0000118	Phenotypic abnormality	2332	FMR1	OMIM:300623
HP:0000118	Phenotypic abnormality	81790	RNF170	OMIM:619686
HP:0000118	Phenotypic abnormality	10935	PRDX3	OMIM:619862
HP:0000118	Phenotypic abnormality	23503	ZFYVE26	ORPHA:100996
HP:0000118	Phenotypic abnormality	54664	TMEM106B	OMIM:617964
HP:0000118	Phenotypic abnormality	2705	GJB1	ORPHA:1175
HP:0000118	Phenotypic abnormality	492	ATP2B3	ORPHA:314978
HP:0000118	Phenotypic abnormality	9711	RUBCN	OMIM:615705
HP:0000118	Phenotypic abnormality	9711	RUBCN	ORPHA:404499
HP:0000118	Phenotypic abnormality	7490	WT1	OMIM:608978
HP:0000118	Phenotypic abnormality	7490	WT1	OMIM:194080
HP:0000118	Phenotypic abnormality	197131	UBR1	OMIM:243800
HP:0000118	Phenotypic abnormality	2625	GATA3	ORPHA:2237
HP:0000118	Phenotypic abnormality	2625	GATA3	OMIM:146255
HP:0000118	Phenotypic abnormality	92002	CCNQ	OMIM:300707
HP:0000118	Phenotypic abnormality	27152	INTU	OMIM:617925
HP:0000118	Phenotypic abnormality	3110	MNX1	OMIM:176450
HP:0000118	Phenotypic abnormality	1593	CYP27A1	ORPHA:909
HP:0000118	Phenotypic abnormality	7355	SLC35A2	ORPHA:356961
HP:0000118	Phenotypic abnormality	540	ATP7B	ORPHA:905
HP:0000118	Phenotypic abnormality	56983	POGLUT1	ORPHA:79145
HP:0000118	Phenotypic abnormality	3852	KRT5	ORPHA:79145
HP:0000118	Phenotypic abnormality	23509	POFUT1	ORPHA:79145
HP:0000118	Phenotypic abnormality	55851	PSENEN	ORPHA:79145
HP:0000118	Phenotypic abnormality	6775	STAT4	ORPHA:85408
HP:0000118	Phenotypic abnormality	3560	IL2RB	ORPHA:85408
HP:0000118	Phenotypic abnormality	79722	ANKRD55	ORPHA:85408
HP:0000118	Phenotypic abnormality	26191	PTPN22	ORPHA:85408
HP:0000118	Phenotypic abnormality	919	CD247	ORPHA:85408
HP:0000118	Phenotypic abnormality	3559	IL2RA	ORPHA:85408
HP:0000118	Phenotypic abnormality	5771	PTPN2	ORPHA:85408
HP:0000118	Phenotypic abnormality	57152	SLURP1	ORPHA:87503
HP:0000118	Phenotypic abnormality	9993	DGCR2	OMIM:192430
HP:0000118	Phenotypic abnormality	8220	ESS2	OMIM:192430
HP:0000118	Phenotypic abnormality	8214	DGCR6	OMIM:192430
HP:0000118	Phenotypic abnormality	54487	DGCR8	OMIM:192430
HP:0000118	Phenotypic abnormality	6899	TBX1	OMIM:192430
HP:0000118	Phenotypic abnormality	23314	SATB2	ORPHA:576283
HP:0000118	Phenotypic abnormality	5428	POLG	ORPHA:298
HP:0000118	Phenotypic abnormality	1890	TYMP	ORPHA:298
HP:0000118	Phenotypic abnormality	3980	LIG3	ORPHA:298
HP:0000118	Phenotypic abnormality	50484	RRM2B	ORPHA:298
HP:0000118	Phenotypic abnormality	84572	GNPTG	OMIM:252605
HP:0000118	Phenotypic abnormality	51360	MBTPS2	ORPHA:2273
HP:0000118	Phenotypic abnormality	2717	GLA	OMIM:301500
HP:0000118	Phenotypic abnormality	22930	RAB3GAP1	ORPHA:1387
HP:0000118	Phenotypic abnormality	25782	RAB3GAP2	ORPHA:1387
HP:0000118	Phenotypic abnormality	4210	MEFV	ORPHA:3243
HP:0000118	Phenotypic abnormality	7840	ALMS1	OMIM:203800
HP:0000118	Phenotypic abnormality	23389	MED13L	ORPHA:369891
HP:0000118	Phenotypic abnormality	10804	GJB6	OMIM:129500
HP:0000118	Phenotypic abnormality	3098	HK1	ORPHA:99953
HP:0000118	Phenotypic abnormality	10908	PNPLA6	OMIM:245800
HP:0000118	Phenotypic abnormality	652	BMP4	OMIM:607932
HP:0000118	Phenotypic abnormality	51651	PTRH2	ORPHA:456312
HP:0000118	Phenotypic abnormality	7305	TYROBP	OMIM:221770
HP:0000118	Phenotypic abnormality	9927	MFN2	ORPHA:99947
HP:0000118	Phenotypic abnormality	10617	STAMBP	OMIM:614261
HP:0000118	Phenotypic abnormality	28981	IFT81	OMIM:617895
HP:0000118	Phenotypic abnormality	392255	GDF6	OMIM:617898
HP:0000118	Phenotypic abnormality	1947	EFNB1	ORPHA:1520
HP:0000118	Phenotypic abnormality	1947	EFNB1	OMIM:304110
HP:0000118	Phenotypic abnormality	5238	PGM3	ORPHA:443811
HP:0000118	Phenotypic abnormality	55733	HHAT	OMIM:600092
HP:0000118	Phenotypic abnormality	1836	SLC26A2	ORPHA:56304
HP:0000118	Phenotypic abnormality	1836	SLC26A2	OMIM:226900
HP:0000118	Phenotypic abnormality	1836	SLC26A2	ORPHA:93307
HP:0000118	Phenotypic abnormality	9786	KIAA0586	ORPHA:397715
HP:0000118	Phenotypic abnormality	114803	MYSM1	ORPHA:508542
HP:0000118	Phenotypic abnormality	149775	GNAS-AS1	OMIM:603233
HP:0000118	Phenotypic abnormality	8675	STX16	OMIM:603233
HP:0000118	Phenotypic abnormality	2778	GNAS	OMIM:603233
HP:0000118	Phenotypic abnormality	2778	GNAS	ORPHA:79443
HP:0000118	Phenotypic abnormality	2778	GNAS	ORPHA:79444
HP:0000118	Phenotypic abnormality	2778	GNAS	ORPHA:79445
HP:0000118	Phenotypic abnormality	2778	GNAS	OMIM:612463
HP:0000118	Phenotypic abnormality	2778	GNAS	OMIM:612462
HP:0000118	Phenotypic abnormality	2778	GNAS	ORPHA:2762
HP:0000118	Phenotypic abnormality	2778	GNAS	OMIM:103580
HP:0000118	Phenotypic abnormality	1855	DVL1	OMIM:616331
HP:0000118	Phenotypic abnormality	1855	DVL1	OMIM:180700
HP:0000118	Phenotypic abnormality	1855	DVL1	ORPHA:3107
HP:0000118	Phenotypic abnormality	55790	CSGALNACT1	OMIM:618870
HP:0000118	Phenotypic abnormality	10026	PIGK	OMIM:618879
HP:0000118	Phenotypic abnormality	28960	DCPS	OMIM:616459
HP:0000118	Phenotypic abnormality	112752	IFT43	ORPHA:1515
HP:0000118	Phenotypic abnormality	112752	IFT43	OMIM:614099
HP:0000118	Phenotypic abnormality	112752	IFT43	OMIM:617866
HP:0000118	Phenotypic abnormality	51098	IFT52	ORPHA:1515
HP:0000118	Phenotypic abnormality	51098	IFT52	OMIM:617102
HP:0000118	Phenotypic abnormality	55764	IFT122	ORPHA:1515
HP:0000118	Phenotypic abnormality	55764	IFT122	OMIM:218330
HP:0000118	Phenotypic abnormality	57728	WDR19	ORPHA:1515
HP:0000118	Phenotypic abnormality	57728	WDR19	ORPHA:474
HP:0000118	Phenotypic abnormality	57728	WDR19	OMIM:614376
HP:0000118	Phenotypic abnormality	55636	CHD7	ORPHA:138
HP:0000118	Phenotypic abnormality	9723	SEMA3E	ORPHA:138
HP:0000118	Phenotypic abnormality	57231	SNX14	ORPHA:397709
HP:0000118	Phenotypic abnormality	57231	SNX14	OMIM:616354
HP:0000118	Phenotypic abnormality	1513	CTSK	OMIM:265800
HP:0000118	Phenotypic abnormality	1513	CTSK	ORPHA:763
HP:0000118	Phenotypic abnormality	818	CAMK2G	OMIM:618522
HP:0000118	Phenotypic abnormality	54453	RIN2	OMIM:613075
HP:0000118	Phenotypic abnormality	54453	RIN2	ORPHA:217335
HP:0000118	Phenotypic abnormality	170691	ADAMTS17	OMIM:613195
HP:0000118	Phenotypic abnormality	9469	CHST3	OMIM:143095
HP:0000118	Phenotypic abnormality	9469	CHST3	ORPHA:263463
HP:0000118	Phenotypic abnormality	7994	KAT6A	ORPHA:457193
HP:0000118	Phenotypic abnormality	7994	KAT6A	OMIM:616268
HP:0000118	Phenotypic abnormality	84100	ARL6	OMIM:209900
HP:0000118	Phenotypic abnormality	84100	ARL6	OMIM:600151
HP:0000118	Phenotypic abnormality	79140	CCDC28B	OMIM:209900
HP:0000118	Phenotypic abnormality	582	BBS1	OMIM:209900
HP:0000118	Phenotypic abnormality	8036	SHOC2	ORPHA:2701
HP:0000118	Phenotypic abnormality	5500	PPP1CB	ORPHA:2701
HP:0000118	Phenotypic abnormality	7291	TWIST1	OMIM:101400
HP:0000118	Phenotypic abnormality	7291	TWIST1	ORPHA:794
HP:0000118	Phenotypic abnormality	7291	TWIST1	ORPHA:35099
HP:0000118	Phenotypic abnormality	63901	FAM111A	OMIM:602361
HP:0000118	Phenotypic abnormality	26160	IFT172	ORPHA:474
HP:0000118	Phenotypic abnormality	26160	IFT172	OMIM:615630
HP:0000118	Phenotypic abnormality	153241	CEP120	ORPHA:474
HP:0000118	Phenotypic abnormality	9742	IFT140	ORPHA:474
HP:0000118	Phenotypic abnormality	79809	TTC21B	ORPHA:474
HP:0000118	Phenotypic abnormality	79809	TTC21B	OMIM:613819
HP:0000118	Phenotypic abnormality	54888	NSUN2	ORPHA:235
HP:0000118	Phenotypic abnormality	8493	PPM1D	OMIM:617450
HP:0000118	Phenotypic abnormality	23126	POGZ	OMIM:616364
HP:0000118	Phenotypic abnormality	27125	AFF4	OMIM:616368
HP:0000118	Phenotypic abnormality	27125	AFF4	ORPHA:444077
HP:0000118	Phenotypic abnormality	5590	PRKCZ	ORPHA:1606
HP:0000118	Phenotypic abnormality	2563	GABRD	ORPHA:1606
HP:0000118	Phenotypic abnormality	8510	MMP23B	ORPHA:1606
HP:0000118	Phenotypic abnormality	7798	LUZP1	ORPHA:1606
HP:0000118	Phenotypic abnormality	6497	SKI	ORPHA:1606
HP:0000118	Phenotypic abnormality	10630	PDPN	ORPHA:1606
HP:0000118	Phenotypic abnormality	10277	UBE4B	ORPHA:1606
HP:0000118	Phenotypic abnormality	8514	KCNAB2	ORPHA:1606
HP:0000118	Phenotypic abnormality	473	RERE	ORPHA:1606
HP:0000118	Phenotypic abnormality	63976	PRDM16	ORPHA:1606
HP:0000118	Phenotypic abnormality	54897	CASZ1	ORPHA:1606
HP:0000118	Phenotypic abnormality	1311	COMP	OMIM:177170
HP:0000118	Phenotypic abnormality	1311	COMP	ORPHA:750
HP:0000118	Phenotypic abnormality	1311	COMP	ORPHA:93308
HP:0000118	Phenotypic abnormality	4247	MGAT2	ORPHA:79329
HP:0000118	Phenotypic abnormality	54928	BPNT2	OMIM:614078
HP:0000118	Phenotypic abnormality	124583	CANT1	OMIM:251450
HP:0000118	Phenotypic abnormality	1301	COL11A1	ORPHA:440354
HP:0000118	Phenotypic abnormality	1301	COL11A1	ORPHA:2021
HP:0000118	Phenotypic abnormality	4488	MSX2	OMIM:604757
HP:0000118	Phenotypic abnormality	5727	PTCH1	ORPHA:377
HP:0000118	Phenotypic abnormality	5727	PTCH1	OMIM:109400
HP:0000118	Phenotypic abnormality	8643	PTCH2	ORPHA:377
HP:0000118	Phenotypic abnormality	51684	SUFU	ORPHA:377
HP:0000118	Phenotypic abnormality	6603	SMARCD2	OMIM:617475
HP:0000118	Phenotypic abnormality	23219	FBXO28	OMIM:619777
HP:0000118	Phenotypic abnormality	51322	WAC	ORPHA:466950
HP:0000118	Phenotypic abnormality	29929	ALG6	ORPHA:79320
HP:0000118	Phenotypic abnormality	79053	ALG8	ORPHA:79325
HP:0000118	Phenotypic abnormality	257	ALX3	OMIM:136760
HP:0000118	Phenotypic abnormality	257	ALX3	ORPHA:391474
HP:0000118	Phenotypic abnormality	6473	SHOX	ORPHA:240
HP:0000118	Phenotypic abnormality	7227	TRPS1	OMIM:190351
HP:0000118	Phenotypic abnormality	7227	TRPS1	ORPHA:502
HP:0000118	Phenotypic abnormality	2879	GPX4	OMIM:250220
HP:0000118	Phenotypic abnormality	59341	TRPV4	OMIM:156530
HP:0000118	Phenotypic abnormality	59341	TRPV4	ORPHA:85169
HP:0000118	Phenotypic abnormality	59341	TRPV4	ORPHA:93314
HP:0000118	Phenotypic abnormality	176	ACAN	OMIM:612813
HP:0000118	Phenotypic abnormality	176	ACAN	ORPHA:171866
HP:0000118	Phenotypic abnormality	176	ACAN	ORPHA:435804
HP:0000118	Phenotypic abnormality	176	ACAN	OMIM:165800
HP:0000118	Phenotypic abnormality	51114	ZDHHC9	ORPHA:776
HP:0000118	Phenotypic abnormality	65109	UPF3B	ORPHA:776
HP:0000118	Phenotypic abnormality	9126	SMC3	OMIM:610759
HP:0000118	Phenotypic abnormality	79068	FTO	OMIM:612938
HP:0000118	Phenotypic abnormality	56975	FAM20C	OMIM:259775
HP:0000118	Phenotypic abnormality	55249	YY1AP1	OMIM:602531
HP:0000118	Phenotypic abnormality	5980	REV3L	ORPHA:570
HP:0000118	Phenotypic abnormality	23129	PLXND1	ORPHA:570
HP:0000118	Phenotypic abnormality	10940	POP1	OMIM:617396
HP:0000118	Phenotypic abnormality	51132	RLIM	OMIM:300978
HP:0000118	Phenotypic abnormality	4141	MARS1	OMIM:619692
HP:0000118	Phenotypic abnormality	1621	DBH	OMIM:223360
HP:0000118	Phenotypic abnormality	4052	LTBP1	OMIM:619451
HP:0000118	Phenotypic abnormality	54496	PRMT7	OMIM:617157
HP:0000118	Phenotypic abnormality	54496	PRMT7	ORPHA:464288
HP:0000118	Phenotypic abnormality	2316	FLNA	ORPHA:88630
HP:0000118	Phenotypic abnormality	2316	FLNA	OMIM:300244
HP:0000118	Phenotypic abnormality	1009	CDH11	OMIM:211380
HP:0000118	Phenotypic abnormality	5077	PAX3	OMIM:148820
HP:0000118	Phenotypic abnormality	10483	SEC23B	ORPHA:201
HP:0000118	Phenotypic abnormality	5728	PTEN	ORPHA:201
HP:0000118	Phenotypic abnormality	6392	SDHD	ORPHA:201
HP:0000118	Phenotypic abnormality	207	AKT1	ORPHA:201
HP:0000118	Phenotypic abnormality	205717	USF3	ORPHA:201
HP:0000118	Phenotypic abnormality	5290	PIK3CA	ORPHA:201
HP:0000118	Phenotypic abnormality	100144748	KLLN	ORPHA:201
HP:0000118	Phenotypic abnormality	633	BGN	OMIM:300989
HP:0000118	Phenotypic abnormality	633	BGN	OMIM:300106
HP:0000118	Phenotypic abnormality	7403	KDM6A	OMIM:300867
HP:0000118	Phenotypic abnormality	5144	PDE4D	ORPHA:439822
HP:0000118	Phenotypic abnormality	5144	PDE4D	ORPHA:950
HP:0000118	Phenotypic abnormality	5144	PDE4D	OMIM:614613
HP:0000118	Phenotypic abnormality	5144	PDE4D	ORPHA:280651
HP:0000118	Phenotypic abnormality	6023	RMRP	OMIM:607095
HP:0000118	Phenotypic abnormality	51715	RAB23	ORPHA:65759
HP:0000118	Phenotypic abnormality	51715	RAB23	OMIM:201000
HP:0000118	Phenotypic abnormality	1954	MEGF8	ORPHA:65759
HP:0000118	Phenotypic abnormality	1954	MEGF8	OMIM:614976
HP:0000118	Phenotypic abnormality	64374	SIL1	ORPHA:559
HP:0000118	Phenotypic abnormality	51763	INPP5K	ORPHA:559
HP:0000118	Phenotypic abnormality	50801	KCNK4	OMIM:618381
HP:0000118	Phenotypic abnormality	9851	KIAA0753	OMIM:619479
HP:0000118	Phenotypic abnormality	9851	KIAA0753	ORPHA:2754
HP:0000118	Phenotypic abnormality	5977	DPF2	OMIM:618027
HP:0000118	Phenotypic abnormality	94005	PIGS	OMIM:618143
HP:0000118	Phenotypic abnormality	5530	PPP3CA	OMIM:618265
HP:0000118	Phenotypic abnormality	285590	SH3PXD2B	ORPHA:137834
HP:0000118	Phenotypic abnormality	10283	CWC27	OMIM:250410
HP:0000118	Phenotypic abnormality	10283	CWC27	ORPHA:166035
HP:0000118	Phenotypic abnormality	6513	SLC2A1	ORPHA:168577
HP:0000118	Phenotypic abnormality	9060	PAPSS2	OMIM:612847
HP:0000118	Phenotypic abnormality	2131	EXT1	ORPHA:502
HP:0000118	Phenotypic abnormality	2887	GRB10	ORPHA:96182
HP:0000118	Phenotypic abnormality	8720	MBTPS1	OMIM:618392
HP:0000118	Phenotypic abnormality	1457	CSNK2A1	OMIM:617062
HP:0000118	Phenotypic abnormality	2077	ERF	OMIM:617180
HP:0000118	Phenotypic abnormality	5130	PCYT1A	ORPHA:85167
HP:0000118	Phenotypic abnormality	5130	PCYT1A	OMIM:608940
HP:0000118	Phenotypic abnormality	90416	CCDC32	OMIM:619123
HP:0000118	Phenotypic abnormality	55717	WDR11	OMIM:620237
HP:0000118	Phenotypic abnormality	23169	SLC35D1	OMIM:269250
HP:0000118	Phenotypic abnormality	407975	MIR17HG	ORPHA:391646
HP:0000118	Phenotypic abnormality	23387	SIK3	OMIM:618162
HP:0000118	Phenotypic abnormality	5295	PIK3R1	ORPHA:3163
HP:0000118	Phenotypic abnormality	51371	POMP	OMIM:618048
HP:0000118	Phenotypic abnormality	89970	RSPRY1	ORPHA:457395
HP:0000118	Phenotypic abnormality	51594	NBAS	OMIM:614800
HP:0000118	Phenotypic abnormality	22800	RRAS2	ORPHA:648
HP:0000118	Phenotypic abnormality	8216	LZTR1	ORPHA:648
HP:0000118	Phenotypic abnormality	6016	RIT1	ORPHA:648
HP:0000118	Phenotypic abnormality	6237	RRAS	ORPHA:648
HP:0000118	Phenotypic abnormality	5894	RAF1	ORPHA:648
HP:0000118	Phenotypic abnormality	22808	MRAS	ORPHA:648
HP:0000118	Phenotypic abnormality	3845	KRAS	ORPHA:648
HP:0000118	Phenotypic abnormality	3845	KRAS	ORPHA:3339
HP:0000118	Phenotypic abnormality	200734	SPRED2	ORPHA:648
HP:0000118	Phenotypic abnormality	4893	NRAS	ORPHA:648
HP:0000118	Phenotypic abnormality	6654	SOS1	ORPHA:648
HP:0000118	Phenotypic abnormality	6655	SOS2	ORPHA:648
HP:0000118	Phenotypic abnormality	5781	PTPN11	ORPHA:648
HP:0000118	Phenotypic abnormality	5781	PTPN11	OMIM:163950
HP:0000118	Phenotypic abnormality	5922	RASA2	ORPHA:648
HP:0000118	Phenotypic abnormality	7474	WNT5A	OMIM:180700
HP:0000118	Phenotypic abnormality	7474	WNT5A	ORPHA:3107
HP:0000118	Phenotypic abnormality	9897	WASHC5	ORPHA:7
HP:0000118	Phenotypic abnormality	28952	CCDC22	ORPHA:7
HP:0000118	Phenotypic abnormality	11011	TLK2	OMIM:618050
HP:0000118	Phenotypic abnormality	51109	RDH11	ORPHA:436245
HP:0000118	Phenotypic abnormality	25886	POC1A	OMIM:614813
HP:0000118	Phenotypic abnormality	4053	LTBP2	OMIM:614819
HP:0000118	Phenotypic abnormality	4053	LTBP2	ORPHA:3449
HP:0000118	Phenotypic abnormality	2690	GHR	ORPHA:633
HP:0000118	Phenotypic abnormality	8450	CUL4B	OMIM:300354
HP:0000118	Phenotypic abnormality	5885	RAD21	OMIM:614701
HP:0000118	Phenotypic abnormality	118429	ANTXR2	ORPHA:2176
HP:0000118	Phenotypic abnormality	3209	HOXA13	OMIM:140000
HP:0000118	Phenotypic abnormality	9241	NOG	ORPHA:3250
HP:0000118	Phenotypic abnormality	9241	NOG	OMIM:186570
HP:0000118	Phenotypic abnormality	9241	NOG	ORPHA:3237
HP:0000118	Phenotypic abnormality	9241	NOG	OMIM:186500
HP:0000118	Phenotypic abnormality	22858	CILK1	OMIM:612651
HP:0000118	Phenotypic abnormality	2314	FLII	ORPHA:819
HP:0000118	Phenotypic abnormality	10522	DEAF1	ORPHA:819
HP:0000118	Phenotypic abnormality	10847	SRCAP	ORPHA:2044
HP:0000118	Phenotypic abnormality	10847	SRCAP	OMIM:136140
HP:0000118	Phenotypic abnormality	26153	KIF26A	OMIM:620156
HP:0000118	Phenotypic abnormality	56992	KIF15	ORPHA:261323
HP:0000118	Phenotypic abnormality	23522	KAT6B	OMIM:606170
HP:0000118	Phenotypic abnormality	8289	ARID1A	OMIM:614607
HP:0000118	Phenotypic abnormality	4054	LTBP3	ORPHA:969
HP:0000118	Phenotypic abnormality	4054	LTBP3	OMIM:617809
HP:0000118	Phenotypic abnormality	222663	SCUBE3	OMIM:619184
HP:0000118	Phenotypic abnormality	6885	MAP3K7	OMIM:157800
HP:0000118	Phenotypic abnormality	6885	MAP3K7	ORPHA:3238
HP:0000118	Phenotypic abnormality	51021	MRPS16	OMIM:610498
HP:0000118	Phenotypic abnormality	1302	COL11A2	ORPHA:2021
HP:0000118	Phenotypic abnormality	1302	COL11A2	ORPHA:1427
HP:0000118	Phenotypic abnormality	4853	NOTCH2	ORPHA:955
HP:0000118	Phenotypic abnormality	2254	FGF9	ORPHA:3237
HP:0000118	Phenotypic abnormality	5307	PITX1	OMIM:186550
HP:0000118	Phenotypic abnormality	5307	PITX1	ORPHA:1275
HP:0000118	Phenotypic abnormality	1857	DVL3	ORPHA:3107
HP:0000118	Phenotypic abnormality	1857	DVL3	OMIM:616894
HP:0000118	Phenotypic abnormality	2535	FZD2	ORPHA:3107
HP:0000118	Phenotypic abnormality	55165	CEP55	OMIM:236500
HP:0000118	Phenotypic abnormality	10236	HNRNPR	OMIM:620073
HP:0000118	Phenotypic abnormality	4089	SMAD4	OMIM:139210
HP:0000118	Phenotypic abnormality	4089	SMAD4	ORPHA:2588
HP:0000118	Phenotypic abnormality	9321	TRIP11	OMIM:184260
HP:0000118	Phenotypic abnormality	5159	PDGFRB	OMIM:601812
HP:0000118	Phenotypic abnormality	5139	PDE3A	ORPHA:1276
HP:0000118	Phenotypic abnormality	9555	MACROH2A1	ORPHA:1275
HP:0000118	Phenotypic abnormality	7048	TGFBR2	OMIM:610168
HP:0000118	Phenotypic abnormality	8195	MKKS	ORPHA:2473
HP:0000118	Phenotypic abnormality	4882	NPR2	ORPHA:40
HP:0000118	Phenotypic abnormality	22856	CHSY1	OMIM:605282
HP:0000118	Phenotypic abnormality	22856	CHSY1	ORPHA:363417
HP:0000118	Phenotypic abnormality	50945	TBX22	ORPHA:921
HP:0000118	Phenotypic abnormality	2702	GJA5	OMIM:612474
HP:0000118	Phenotypic abnormality	2702	GJA5	ORPHA:3303
HP:0000118	Phenotypic abnormality	2703	GJA8	OMIM:612474
HP:0000118	Phenotypic abnormality	585	BBS4	OMIM:615982
HP:0000118	Phenotypic abnormality	129880	BBS5	OMIM:615983
HP:0000118	Phenotypic abnormality	27241	BBS9	OMIM:615986
HP:0000118	Phenotypic abnormality	196528	ARID2	OMIM:617808
HP:0000118	Phenotypic abnormality	55081	IFT57	OMIM:617927
HP:0000118	Phenotypic abnormality	6938	TCF12	ORPHA:35099
HP:0000118	Phenotypic abnormality	6938	TCF12	OMIM:615314
HP:0000118	Phenotypic abnormality	7545	ZIC1	ORPHA:35099
HP:0000118	Phenotypic abnormality	92482	BBIP1	OMIM:615995
HP:0000118	Phenotypic abnormality	51621	KLF13	OMIM:612001
HP:0000118	Phenotypic abnormality	1139	CHRNA7	OMIM:612001
HP:0000118	Phenotypic abnormality	54585	LZTFL1	OMIM:615994
HP:0000118	Phenotypic abnormality	1482	NKX2-5	ORPHA:3303
HP:0000118	Phenotypic abnormality	137814	NKX2-6	ORPHA:3303
HP:0000118	Phenotypic abnormality	23414	ZFPM2	ORPHA:3303
HP:0000118	Phenotypic abnormality	3791	KDR	ORPHA:3303
HP:0000118	Phenotypic abnormality	2627	GATA6	ORPHA:3303
HP:0000118	Phenotypic abnormality	2657	GDF1	ORPHA:3303
HP:0000118	Phenotypic abnormality	182	JAG1	ORPHA:3303
HP:0000118	Phenotypic abnormality	140628	GATA5	ORPHA:3303
HP:0000118	Phenotypic abnormality	2324	FLT4	ORPHA:3303
HP:0000118	Phenotypic abnormality	10370	CITED2	ORPHA:3303
HP:0000118	Phenotypic abnormality	23291	FBXW11	OMIM:618914
HP:0000118	Phenotypic abnormality	5053	PAH	ORPHA:2209
HP:0000118	Phenotypic abnormality	101929726	MYMX	ORPHA:1358
HP:0000118	Phenotypic abnormality	5925	RB1	ORPHA:1587
HP:0000118	Phenotypic abnormality	3759	KCNJ2	OMIM:170390
HP:0000118	Phenotypic abnormality	29980	DONSON	OMIM:617604
HP:0000118	Phenotypic abnormality	5116	PCNT	OMIM:210720
HP:0000118	Phenotypic abnormality	5116	PCNT	ORPHA:2637
HP:0000118	Phenotypic abnormality	9419	CRIPT	OMIM:615789
HP:0000118	Phenotypic abnormality	6638	SNRPN	ORPHA:177907
HP:0000118	Phenotypic abnormality	9361	LONP1	ORPHA:1458
HP:0000118	Phenotypic abnormality	8092	ALX1	ORPHA:306542
HP:0000118	Phenotypic abnormality	117581	TWIST2	OMIM:209885
HP:0000118	Phenotypic abnormality	54361	WNT4	ORPHA:247768
HP:0000118	Phenotypic abnormality	55617	TASP1	OMIM:618950
HP:0000118	Phenotypic abnormality	5744	PTHLH	OMIM:613382
HP:0000118	Phenotypic abnormality	526	ATP6V1B2	OMIM:124480
HP:0000118	Phenotypic abnormality	113246	C12orf57	OMIM:218340
HP:0000118	Phenotypic abnormality	5331	PLCB3	OMIM:618961
HP:0000118	Phenotypic abnormality	387	RHOA	OMIM:618727
HP:0000118	Phenotypic abnormality	6913	TBX15	ORPHA:93333
HP:0000118	Phenotypic abnormality	10210	TOPORS	ORPHA:2754
HP:0000118	Phenotypic abnormality	5147	PDE6D	ORPHA:2754
HP:0000118	Phenotypic abnormality	317662	FAM149B1	ORPHA:2754
HP:0000118	Phenotypic abnormality	23404	EXOSC2	OMIM:617763
HP:0000118	Phenotypic abnormality	406932	MIR140	OMIM:618618
HP:0000118	Phenotypic abnormality	25871	NEPRO	OMIM:618853
HP:0000118	Phenotypic abnormality	255758	DYNLT2B	OMIM:617405
HP:0000118	Phenotypic abnormality	5604	MAP2K1	OMIM:163950
HP:0000118	Phenotypic abnormality	50964	SOST	OMIM:269500
HP:0000118	Phenotypic abnormality	84529	CDIN1	OMIM:615631
HP:0000118	Phenotypic abnormality	7681	MKRN3	OMIM:176270
HP:0000118	Phenotypic abnormality	3653	IPW	OMIM:176270
HP:0000118	Phenotypic abnormality	791114	PWRN1	OMIM:176270
HP:0000118	Phenotypic abnormality	100033413	SNORD116-1	OMIM:176270
HP:0000118	Phenotypic abnormality	8924	HERC2	OMIM:176270
HP:0000118	Phenotypic abnormality	145624	PWAR1	OMIM:176270
HP:0000118	Phenotypic abnormality	23742	NPAP1	OMIM:176270
HP:0000118	Phenotypic abnormality	338433	SNORD115-1	OMIM:176270
HP:0000118	Phenotypic abnormality	1723	DHODH	OMIM:263750
HP:0000118	Phenotypic abnormality	2192	FBLN1	ORPHA:404451
HP:0000118	Phenotypic abnormality	50814	NSDHL	OMIM:308050
HP:0000118	Phenotypic abnormality	3481	IGF2	OMIM:180860
HP:0000118	Phenotypic abnormality	3481	IGF2	OMIM:616489
HP:0000118	Phenotypic abnormality	3481	IGF2	ORPHA:397590
HP:0000118	Phenotypic abnormality	8550	MAPKAPK5	OMIM:619869
HP:0000118	Phenotypic abnormality	8260	NAA10	OMIM:309800
HP:0000118	Phenotypic abnormality	79633	FAT4	OMIM:616006
HP:0000118	Phenotypic abnormality	79633	FAT4	ORPHA:314679
HP:0000118	Phenotypic abnormality	29957	SLC25A24	OMIM:612289
HP:0000118	Phenotypic abnormality	4659	PPP1R12A	OMIM:618820
HP:0000118	Phenotypic abnormality	6305	SBF1	OMIM:615284
HP:0000118	Phenotypic abnormality	1028	CDKN1C	ORPHA:397590
HP:0000118	Phenotypic abnormality	5324	PLAG1	ORPHA:397590
HP:0000118	Phenotypic abnormality	8091	HMGA2	ORPHA:397590
HP:0000118	Phenotypic abnormality	8642	DCHS1	ORPHA:314679
HP:0000118	Phenotypic abnormality	57688	ZSWIM6	OMIM:603671
HP:0000118	Phenotypic abnormality	775	CACNA1C	OMIM:618447
HP:0000118	Phenotypic abnormality	8831	SYNGAP1	ORPHA:1942
HP:0000118	Phenotypic abnormality	1173	AP2M1	ORPHA:1942
HP:0000118	Phenotypic abnormality	340533	NEXMIF	ORPHA:1942
HP:0000118	Phenotypic abnormality	1106	CHD2	ORPHA:1942
HP:0000118	Phenotypic abnormality	6529	SLC6A1	ORPHA:1942
HP:0000118	Phenotypic abnormality	1832	DSP	OMIM:609638
HP:0000118	Phenotypic abnormality	3914	LAMB3	OMIM:226700
HP:0000118	Phenotypic abnormality	3909	LAMA3	OMIM:226700
HP:0000118	Phenotypic abnormality	3918	LAMC2	OMIM:226700
HP:0000118	Phenotypic abnormality	29123	ANKRD11	OMIM:148050
HP:0000118	Phenotypic abnormality	54101	RIPK4	OMIM:263650
HP:0000118	Phenotypic abnormality	146059	CDAN1	OMIM:224120
HP:0000118	Phenotypic abnormality	3207	HOXA11	OMIM:605432
HP:0000118	Phenotypic abnormality	54806	AHI1	ORPHA:475
HP:0000118	Phenotypic abnormality	54806	AHI1	ORPHA:220493
HP:0000118	Phenotypic abnormality	200894	ARL13B	ORPHA:475
HP:0000118	Phenotypic abnormality	9731	CEP104	ORPHA:475
HP:0000118	Phenotypic abnormality	23247	KATNIP	ORPHA:475
HP:0000118	Phenotypic abnormality	219854	TMEM218	ORPHA:475
HP:0000118	Phenotypic abnormality	95681	CEP41	ORPHA:475
HP:0000118	Phenotypic abnormality	95681	CEP41	ORPHA:220493
HP:0000118	Phenotypic abnormality	10464	PIBF1	ORPHA:475
HP:0000118	Phenotypic abnormality	23116	TOGARAM1	ORPHA:475
HP:0000118	Phenotypic abnormality	25776	CBY1	ORPHA:475
HP:0000118	Phenotypic abnormality	403	ARL3	ORPHA:475
HP:0000118	Phenotypic abnormality	10682	EBP	ORPHA:401973
HP:0000118	Phenotypic abnormality	5626	PROP1	ORPHA:226307
HP:0000118	Phenotypic abnormality	89884	LHX4	ORPHA:226307
HP:0000118	Phenotypic abnormality	8022	LHX3	ORPHA:226307
HP:0000118	Phenotypic abnormality	5449	POU1F1	ORPHA:226307
HP:0000118	Phenotypic abnormality	8820	HESX1	ORPHA:226307
HP:0000118	Phenotypic abnormality	51	ACOX1	ORPHA:2971
HP:0000118	Phenotypic abnormality	7547	ZIC3	OMIM:314390
HP:0000118	Phenotypic abnormality	641	BLM	OMIM:210900
HP:0000118	Phenotypic abnormality	26154	ABCA12	ORPHA:457
HP:0000118	Phenotypic abnormality	8241	RBM10	ORPHA:2886
HP:0000118	Phenotypic abnormality	7021	TFAP2B	ORPHA:46627
HP:0000118	Phenotypic abnormality	51524	TMEM138	ORPHA:2318
HP:0000118	Phenotypic abnormality	23090	ZNF423	ORPHA:2318
HP:0000118	Phenotypic abnormality	2313	FLI1	ORPHA:2308
HP:0000118	Phenotypic abnormality	6309	SC5D	ORPHA:46059
HP:0000118	Phenotypic abnormality	6309	SC5D	OMIM:607330
HP:0000118	Phenotypic abnormality	894	CCND2	ORPHA:83473
HP:0000118	Phenotypic abnormality	894	CCND2	OMIM:615938
HP:0000118	Phenotypic abnormality	5296	PIK3R2	ORPHA:83473
HP:0000118	Phenotypic abnormality	10000	AKT3	ORPHA:83473
HP:0000118	Phenotypic abnormality	10000	AKT3	OMIM:615937
HP:0000118	Phenotypic abnormality	56623	INPP5E	OMIM:213300
HP:0000118	Phenotypic abnormality	56623	INPP5E	ORPHA:1454
HP:0000118	Phenotypic abnormality	55593	OTUD5	OMIM:301056
HP:0000118	Phenotypic abnormality	83479	DDX59	OMIM:174300
HP:0000118	Phenotypic abnormality	83479	DDX59	ORPHA:2919
HP:0000118	Phenotypic abnormality	10225	CD96	OMIM:211750
HP:0000118	Phenotypic abnormality	51057	WDPCP	OMIM:217085
HP:0000118	Phenotypic abnormality	51057	WDPCP	ORPHA:110
HP:0000118	Phenotypic abnormality	285600	KIAA0825	OMIM:618498
HP:0000118	Phenotypic abnormality	26005	C2CD3	OMIM:615948
HP:0000118	Phenotypic abnormality	26005	C2CD3	ORPHA:434179
HP:0000118	Phenotypic abnormality	26040	SETBP1	OMIM:269150
HP:0000118	Phenotypic abnormality	11020	IFT27	ORPHA:110
HP:0000118	Phenotypic abnormality	49855	SCAPER	ORPHA:110
HP:0000118	Phenotypic abnormality	4867	NPHP1	ORPHA:110
HP:0000118	Phenotypic abnormality	84984	CEP19	ORPHA:110
HP:0000118	Phenotypic abnormality	22954	TRIM32	ORPHA:110
HP:0000118	Phenotypic abnormality	79738	BBS10	ORPHA:110
HP:0000118	Phenotypic abnormality	123016	TTC8	ORPHA:110
HP:0000118	Phenotypic abnormality	583	BBS2	ORPHA:110
HP:0000118	Phenotypic abnormality	583	BBS2	OMIM:615981
HP:0000118	Phenotypic abnormality	55212	BBS7	ORPHA:110
HP:0000118	Phenotypic abnormality	166379	BBS12	ORPHA:110
HP:0000118	Phenotypic abnormality	166379	BBS12	OMIM:615989
HP:0000118	Phenotypic abnormality	10806	SDCCAG8	ORPHA:110
HP:0000118	Phenotypic abnormality	80173	IFT74	ORPHA:110
HP:0000118	Phenotypic abnormality	79005	SCNM1	OMIM:620107
HP:0000118	Phenotypic abnormality	2736	GLI2	OMIM:610829
HP:0000118	Phenotypic abnormality	80210	ARMC9	OMIM:617622
HP:0000118	Phenotypic abnormality	23288	IQCE	OMIM:617642
HP:0000118	Phenotypic abnormality	137392	CIBAR1	OMIM:618219
HP:0000118	Phenotypic abnormality	7700	ZNF141	OMIM:615226
HP:0000118	Phenotypic abnormality	64132	XYLT2	OMIM:605822
HP:0000118	Phenotypic abnormality	4088	SMAD3	ORPHA:284984
HP:0000118	Phenotypic abnormality	4088	SMAD3	OMIM:613795
HP:0000118	Phenotypic abnormality	4088	SMAD3	ORPHA:91387
HP:0000118	Phenotypic abnormality	875	CBS	ORPHA:394
HP:0000118	Phenotypic abnormality	875	CBS	OMIM:236200
HP:0000118	Phenotypic abnormality	25970	SH2B1	ORPHA:261222
HP:0000118	Phenotypic abnormality	199857	ALG14	OMIM:619036
HP:0000118	Phenotypic abnormality	1075	CTSC	OMIM:245010
HP:0000118	Phenotypic abnormality	1075	CTSC	ORPHA:678
HP:0000118	Phenotypic abnormality	5351	PLOD1	OMIM:225400
HP:0000118	Phenotypic abnormality	8076	MFAP5	OMIM:616166
HP:0000118	Phenotypic abnormality	8076	MFAP5	ORPHA:91387
HP:0000118	Phenotypic abnormality	613	BCR	ORPHA:261330
HP:0000118	Phenotypic abnormality	1399	CRKL	ORPHA:261330
HP:0000118	Phenotypic abnormality	63895	PIEZO2	OMIM:617146
HP:0000118	Phenotypic abnormality	63895	PIEZO2	OMIM:108145
HP:0000118	Phenotypic abnormality	63895	PIEZO2	ORPHA:1154
HP:0000118	Phenotypic abnormality	63895	PIEZO2	OMIM:248700
HP:0000118	Phenotypic abnormality	63895	PIEZO2	ORPHA:2461
HP:0000118	Phenotypic abnormality	72	ACTG2	ORPHA:2604
HP:0000118	Phenotypic abnormality	30008	EFEMP2	OMIM:614437
HP:0000118	Phenotypic abnormality	10084	PQBP1	ORPHA:93946
HP:0000118	Phenotypic abnormality	79693	YRDC	OMIM:619609
HP:0000118	Phenotypic abnormality	1146	CHRNG	OMIM:265000
HP:0000118	Phenotypic abnormality	284058	KANSL1	ORPHA:363958
HP:0000118	Phenotypic abnormality	284058	KANSL1	ORPHA:363965
HP:0000118	Phenotypic abnormality	1272	CNTN1	OMIM:612540
HP:0000118	Phenotypic abnormality	1312	COMT	ORPHA:567
HP:0000118	Phenotypic abnormality	221037	JMJD1C	ORPHA:567
HP:0000118	Phenotypic abnormality	2812	GP1BB	ORPHA:567
HP:0000118	Phenotypic abnormality	6239	RREB1	ORPHA:567
HP:0000118	Phenotypic abnormality	7290	HIRA	ORPHA:567
HP:0000118	Phenotypic abnormality	9632	SEC24C	ORPHA:567
HP:0000118	Phenotypic abnormality	7353	UFD1	ORPHA:567
HP:0000118	Phenotypic abnormality	421	ARVCF	ORPHA:567
HP:0000118	Phenotypic abnormality	444	ASPH	OMIM:601552
HP:0000118	Phenotypic abnormality	79576	NKAP	OMIM:301039
HP:0000118	Phenotypic abnormality	3188	HNRNPH2	OMIM:300986
HP:0000118	Phenotypic abnormality	25	ABL1	OMIM:617602
HP:0000118	Phenotypic abnormality	23152	CIC	OMIM:617600
HP:0000118	Phenotypic abnormality	649	BMP1	OMIM:614856
HP:0000118	Phenotypic abnormality	89910	UBE3B	ORPHA:2707
HP:0000118	Phenotypic abnormality	165	AEBP1	ORPHA:536532
HP:0000118	Phenotypic abnormality	11285	B4GALT7	ORPHA:75496
HP:0000118	Phenotypic abnormality	11285	B4GALT7	OMIM:130070
HP:0000118	Phenotypic abnormality	1798	DPAGT1	ORPHA:86309
HP:0000118	Phenotypic abnormality	490	ATP2B1	OMIM:619910
HP:0000118	Phenotypic abnormality	81031	SLC2A10	ORPHA:3342
HP:0000118	Phenotypic abnormality	81031	SLC2A10	OMIM:208050
HP:0000118	Phenotypic abnormality	4534	MTM1	OMIM:310400
HP:0000118	Phenotypic abnormality	5184	PEPD	ORPHA:742
HP:0000118	Phenotypic abnormality	715	C1R	OMIM:130080
HP:0000118	Phenotypic abnormality	60676	PAPPA2	OMIM:619489
HP:0000118	Phenotypic abnormality	1742	DLG4	OMIM:618793
HP:0000118	Phenotypic abnormality	6605	SMARCE1	OMIM:616938
HP:0000118	Phenotypic abnormality	11107	PRDM5	ORPHA:90354
HP:0000118	Phenotypic abnormality	84627	ZNF469	ORPHA:90354
HP:0000118	Phenotypic abnormality	139285	AMER1	OMIM:300373
HP:0000118	Phenotypic abnormality	4677	NARS1	OMIM:619092
HP:0000118	Phenotypic abnormality	2193	FARSA	OMIM:619013
HP:0000118	Phenotypic abnormality	4087	SMAD2	OMIM:619656
HP:0000118	Phenotypic abnormality	4087	SMAD2	ORPHA:91387
HP:0000118	Phenotypic abnormality	29893	PSMC3IP	ORPHA:243
HP:0000118	Phenotypic abnormality	171568	POLR3H	ORPHA:243
HP:0000118	Phenotypic abnormality	2516	NR5A1	ORPHA:243
HP:0000118	Phenotypic abnormality	125150	ZSWIM7	ORPHA:243
HP:0000118	Phenotypic abnormality	9210	BMP15	ORPHA:243
HP:0000118	Phenotypic abnormality	23514	SPIDR	ORPHA:243
HP:0000118	Phenotypic abnormality	2492	FSHR	ORPHA:243
HP:0000118	Phenotypic abnormality	56945	MRPS22	ORPHA:243
HP:0000118	Phenotypic abnormality	646	BNC1	ORPHA:243
HP:0000118	Phenotypic abnormality	55553	SOX6	OMIM:618971
HP:0000118	Phenotypic abnormality	4883	NPR3	OMIM:619543
HP:0000118	Phenotypic abnormality	7043	TGFB3	OMIM:615582
HP:0000118	Phenotypic abnormality	7043	TGFB3	ORPHA:91387
HP:0000118	Phenotypic abnormality	7046	TGFBR1	ORPHA:60030
HP:0000118	Phenotypic abnormality	7046	TGFBR1	OMIM:609192
HP:0000118	Phenotypic abnormality	7046	TGFBR1	ORPHA:91387
HP:0000118	Phenotypic abnormality	56603	CYP26B1	OMIM:614416
HP:0000118	Phenotypic abnormality	7042	TGFB2	OMIM:614816
HP:0000118	Phenotypic abnormality	7042	TGFB2	ORPHA:91387
HP:0000118	Phenotypic abnormality	4629	MYH11	ORPHA:91387
HP:0000118	Phenotypic abnormality	4015	LOX	ORPHA:91387
HP:0000118	Phenotypic abnormality	59	ACTA2	ORPHA:91387
HP:0000118	Phenotypic abnormality	5592	PRKG1	ORPHA:91387
HP:0000118	Phenotypic abnormality	2301	FOXE3	ORPHA:91387
HP:0000118	Phenotypic abnormality	4144	MAT2A	ORPHA:91387
HP:0000118	Phenotypic abnormality	23493	HEY2	ORPHA:91387
HP:0000118	Phenotypic abnormality	4638	MYLK	ORPHA:91387
HP:0000118	Phenotypic abnormality	57465	TBC1D24	ORPHA:79500
HP:0000118	Phenotypic abnormality	134218	DNAJC21	ORPHA:811
HP:0000118	Phenotypic abnormality	79631	EFL1	ORPHA:811
HP:0000118	Phenotypic abnormality	51119	SBDS	ORPHA:811
HP:0000118	Phenotypic abnormality	6729	SRP54	ORPHA:811
HP:0000118	Phenotypic abnormality	6926	TBX3	ORPHA:3138
HP:0000118	Phenotypic abnormality	54808	DYM	OMIM:223800
HP:0000118	Phenotypic abnormality	1280	COL2A1	OMIM:271700
HP:0000118	Phenotypic abnormality	3930	LBR	OMIM:215140
HP:0000118	Phenotypic abnormality	4921	DDR2	OMIM:271665
HP:0000118	Phenotypic abnormality	3549	IHH	OMIM:112500
HP:0000118	Phenotypic abnormality	2245	FGD1	OMIM:305400
HP:0000118	Phenotypic abnormality	2245	FGD1	ORPHA:915
HP:0000118	Phenotypic abnormality	9131	AIFM1	OMIM:300232
HP:0000118	Phenotypic abnormality	10743	RAI1	OMIM:182290
HP:0000118	Phenotypic abnormality	145173	B3GLCT	OMIM:261540
HP:0000118	Phenotypic abnormality	23135	KDM6B	OMIM:618505
HP:0000118	Phenotypic abnormality	54880	BCOR	ORPHA:2712
HP:0000118	Phenotypic abnormality	1778	DYNC1H1	OMIM:614563
HP:0000118	Phenotypic abnormality	4796	TONSL	ORPHA:93357
HP:0000118	Phenotypic abnormality	5745	PTH1R	ORPHA:79106
HP:0000118	Phenotypic abnormality	79718	TBL1XR1	OMIM:602342
HP:0000118	Phenotypic abnormality	2200	FBN1	OMIM:608328
HP:0000118	Phenotypic abnormality	2623	GATA1	OMIM:190685
HP:0000118	Phenotypic abnormality	5277	PIGA	OMIM:300868
HP:0000118	Phenotypic abnormality	55012	PPP2R3C	OMIM:618419
HP:0000118	Phenotypic abnormality	23384	SPECC1L	OMIM:145420
HP:0000118	Phenotypic abnormality	22907	DHX30	OMIM:617804
HP:0000118	Phenotypic abnormality	2719	GPC3	OMIM:312870
HP:0000118	Phenotypic abnormality	2239	GPC4	OMIM:312870
HP:0000118	Phenotypic abnormality	5573	PRKAR1A	OMIM:101800
HP:0000118	Phenotypic abnormality	2799	GNS	OMIM:252940
HP:0000118	Phenotypic abnormality	2273	FHL1	OMIM:300280
HP:0000118	Phenotypic abnormality	55343	SLC35C1	ORPHA:99843
HP:0000118	Phenotypic abnormality	81794	ADAMTS10	OMIM:277600
HP:0000118	Phenotypic abnormality	64840	PORCN	OMIM:305600
HP:0000118	Phenotypic abnormality	64840	PORCN	ORPHA:2092
HP:0000118	Phenotypic abnormality	6910	TBX5	ORPHA:392
HP:0000118	Phenotypic abnormality	3094	HINT1	ORPHA:324442
HP:0000118	Phenotypic abnormality	22880	MORC2	OMIM:616688
HP:0000118	Phenotypic abnormality	1001	CDH3	OMIM:225280
HP:0000118	Phenotypic abnormality	8626	TP63	OMIM:604292
HP:0000118	Phenotypic abnormality	8626	TP63	ORPHA:2440
HP:0000118	Phenotypic abnormality	8626	TP63	OMIM:103285
HP:0000118	Phenotypic abnormality	8626	TP63	OMIM:603543
HP:0000118	Phenotypic abnormality	8626	TP63	OMIM:605289
HP:0000118	Phenotypic abnormality	8626	TP63	ORPHA:1896
HP:0000118	Phenotypic abnormality	4047	LSS	ORPHA:2850
HP:0000118	Phenotypic abnormality	197	AHSG	ORPHA:2850
HP:0000118	Phenotypic abnormality	3694	ITGB6	ORPHA:2850
HP:0000118	Phenotypic abnormality	79581	SLC52A2	OMIM:614707
HP:0000118	Phenotypic abnormality	411	ARSB	OMIM:253200
HP:0000118	Phenotypic abnormality	9150	CTDP1	OMIM:604168
HP:0000118	Phenotypic abnormality	56704	JPH1	OMIM:607831
HP:0000118	Phenotypic abnormality	51776	MAP3K20	OMIM:616890
HP:0000118	Phenotypic abnormality	1750	DLX6	ORPHA:2440
HP:0000118	Phenotypic abnormality	7979	SEM1	ORPHA:2440
HP:0000118	Phenotypic abnormality	8945	BTRC	ORPHA:2440
HP:0000118	Phenotypic abnormality	58513	EPS15L1	ORPHA:2440
HP:0000118	Phenotypic abnormality	6468	FBXW4	ORPHA:2440
HP:0000118	Phenotypic abnormality	7480	WNT10B	ORPHA:2440
HP:0000118	Phenotypic abnormality	7480	WNT10B	OMIM:225300
HP:0000118	Phenotypic abnormality	1749	DLX5	ORPHA:2440
HP:0000118	Phenotypic abnormality	1749	DLX5	OMIM:183600
HP:0000118	Phenotypic abnormality	1749	DLX5	OMIM:220600
HP:0000118	Phenotypic abnormality	1717	DHCR7	ORPHA:818
HP:0000118	Phenotypic abnormality	79158	GNPTAB	OMIM:252500
HP:0000118	Phenotypic abnormality	79158	GNPTAB	OMIM:252600
HP:0000118	Phenotypic abnormality	3516	RBPJ	ORPHA:974
HP:0000118	Phenotypic abnormality	4851	NOTCH1	ORPHA:974
HP:0000118	Phenotypic abnormality	57514	ARHGAP31	ORPHA:974
HP:0000118	Phenotypic abnormality	57572	DOCK6	ORPHA:974
HP:0000118	Phenotypic abnormality	285203	EOGT	ORPHA:974
HP:0000118	Phenotypic abnormality	54567	DLL4	ORPHA:974
HP:0000118	Phenotypic abnormality	8888	MCM3AP	OMIM:618124
HP:0000118	Phenotypic abnormality	3423	IDS	OMIM:309900
HP:0000118	Phenotypic abnormality	3664	IRF6	ORPHA:1300
HP:0000118	Phenotypic abnormality	374969	SVBP	OMIM:618569
HP:0000118	Phenotypic abnormality	3295	HSD17B4	OMIM:261515
HP:0000118	Phenotypic abnormality	7476	WNT7A	OMIM:276820
HP:0000118	Phenotypic abnormality	1509	CTSD	OMIM:610127
HP:0000118	Phenotypic abnormality	64359	NXN	ORPHA:1507
HP:0000118	Phenotypic abnormality	4920	ROR2	ORPHA:1507
HP:0000118	Phenotypic abnormality	4313	MMP2	OMIM:259600
HP:0000118	Phenotypic abnormality	2260	FGFR1	ORPHA:2117
HP:0000118	Phenotypic abnormality	10397	NDRG1	ORPHA:99950
HP:0000118	Phenotypic abnormality	2189	FANCG	OMIM:614082
HP:0000118	Phenotypic abnormality	2189	FANCG	ORPHA:84
HP:0000118	Phenotypic abnormality	80207	OPA3	ORPHA:67036
HP:0000118	Phenotypic abnormality	9968	MED12	ORPHA:93932
HP:0000118	Phenotypic abnormality	8200	GDF5	ORPHA:2639
HP:0000118	Phenotypic abnormality	658	BMPR1B	ORPHA:2639
HP:0000118	Phenotypic abnormality	672	BRCA1	ORPHA:84
HP:0000118	Phenotypic abnormality	10459	MAD2L2	ORPHA:84
HP:0000118	Phenotypic abnormality	7516	XRCC2	ORPHA:84
HP:0000118	Phenotypic abnormality	29089	UBE2T	ORPHA:84
HP:0000118	Phenotypic abnormality	675	BRCA2	ORPHA:84
HP:0000118	Phenotypic abnormality	55120	FANCL	ORPHA:84
HP:0000118	Phenotypic abnormality	2175	FANCA	ORPHA:84
HP:0000118	Phenotypic abnormality	2187	FANCB	ORPHA:84
HP:0000118	Phenotypic abnormality	2176	FANCC	ORPHA:84
HP:0000118	Phenotypic abnormality	2178	FANCE	ORPHA:84
HP:0000118	Phenotypic abnormality	2188	FANCF	ORPHA:84
HP:0000118	Phenotypic abnormality	5888	RAD51	ORPHA:84
HP:0000118	Phenotypic abnormality	5889	RAD51C	ORPHA:84
HP:0000118	Phenotypic abnormality	55159	RFWD3	ORPHA:84
HP:0000118	Phenotypic abnormality	83990	BRIP1	ORPHA:84
HP:0000118	Phenotypic abnormality	57697	FANCM	ORPHA:84
HP:0000118	Phenotypic abnormality	79728	PALB2	ORPHA:84
HP:0000118	Phenotypic abnormality	84464	SLX4	ORPHA:84
HP:0000118	Phenotypic abnormality	2072	ERCC4	ORPHA:84
HP:0000118	Phenotypic abnormality	55215	FANCI	ORPHA:84
HP:0000118	Phenotypic abnormality	64093	SMOC1	ORPHA:1106
HP:0000118	Phenotypic abnormality	2261	FGFR3	OMIM:620192
HP:0000118	Phenotypic abnormality	2261	FGFR3	ORPHA:2363
HP:0000118	Phenotypic abnormality	23111	SPART	ORPHA:101000
HP:0000118	Phenotypic abnormality	25942	SIN3A	ORPHA:94065
HP:0000118	Phenotypic abnormality	1193	CLIC2	ORPHA:324410
HP:0000118	Phenotypic abnormality	860	RUNX2	ORPHA:1452
HP:0000118	Phenotypic abnormality	2255	FGF10	ORPHA:2363
HP:0000118	Phenotypic abnormality	6469	SHH	ORPHA:93321
HP:0000118	Phenotypic abnormality	6197	RPS6KA3	ORPHA:192
HP:0000118	Phenotypic abnormality	6197	RPS6KA3	ORPHA:276630
HP:0000118	Phenotypic abnormality	8925	HERC1	OMIM:617011
HP:0000118	Phenotypic abnormality	5447	POR	OMIM:201750
HP:0000118	Phenotypic abnormality	23512	SUZ12	OMIM:618786
HP:0000118	Phenotypic abnormality	23512	SUZ12	ORPHA:3447
HP:0000118	Phenotypic abnormality	9158	FIBP	ORPHA:500095
HP:0000118	Phenotypic abnormality	9158	FIBP	OMIM:617107
HP:0000118	Phenotypic abnormality	26580	BSCL2	OMIM:269700
HP:0000118	Phenotypic abnormality	26580	BSCL2	ORPHA:528
HP:0000118	Phenotypic abnormality	100151683	RNU4ATAC	OMIM:210710
HP:0000118	Phenotypic abnormality	100151683	RNU4ATAC	ORPHA:2636
HP:0000118	Phenotypic abnormality	3643	INSR	ORPHA:508
HP:0000118	Phenotypic abnormality	3643	INSR	OMIM:246200
HP:0000118	Phenotypic abnormality	5189	PEX1	ORPHA:3220
HP:0000118	Phenotypic abnormality	5190	PEX6	ORPHA:3220
HP:0000118	Phenotypic abnormality	85358	SHANK3	OMIM:606232
HP:0000118	Phenotypic abnormality	85358	SHANK3	ORPHA:48652
HP:0000118	Phenotypic abnormality	11128	POLR3A	OMIM:264090
HP:0000118	Phenotypic abnormality	64324	NSD1	ORPHA:821
HP:0000118	Phenotypic abnormality	64324	NSD1	OMIM:117550
HP:0000118	Phenotypic abnormality	64324	NSD1	ORPHA:3447
HP:0000118	Phenotypic abnormality	29072	SETD2	ORPHA:821
HP:0000118	Phenotypic abnormality	10297	APC2	ORPHA:821
HP:0000118	Phenotypic abnormality	55690	PACS1	OMIM:615009
HP:0000118	Phenotypic abnormality	4221	MEN1	ORPHA:99725
HP:0000118	Phenotypic abnormality	9049	AIP	ORPHA:99725
HP:0000118	Phenotypic abnormality	9049	AIP	ORPHA:963
HP:0000118	Phenotypic abnormality	8242	KDM5C	OMIM:300534
HP:0000118	Phenotypic abnormality	440	ASNS	OMIM:615574
HP:0000118	Phenotypic abnormality	9487	PIGL	OMIM:280000
HP:0000118	Phenotypic abnormality	2146	EZH2	OMIM:277590
HP:0000118	Phenotypic abnormality	2146	EZH2	ORPHA:3447
HP:0000118	Phenotypic abnormality	5468	PPARG	ORPHA:528
HP:0000118	Phenotypic abnormality	10555	AGPAT2	ORPHA:528
HP:0000118	Phenotypic abnormality	10555	AGPAT2	OMIM:608594
HP:0000118	Phenotypic abnormality	284119	CAVIN1	ORPHA:528
HP:0000118	Phenotypic abnormality	2353	FOS	ORPHA:528
HP:0000118	Phenotypic abnormality	857	CAV1	ORPHA:528
HP:0000118	Phenotypic abnormality	83550	GPR101	ORPHA:963
HP:0000118	Phenotypic abnormality	8726	EED	ORPHA:3447
HP:0000118	Phenotypic abnormality	8726	EED	OMIM:617561
HP:0000118	Phenotypic abnormality	6390	SDHB	OMIM:606764
HP:0000118	Phenotypic abnormality	6391	SDHC	OMIM:606764
HP:0000118	Phenotypic abnormality	3815	KIT	OMIM:606764
HP:0000118	Phenotypic abnormality	4763	NF1	ORPHA:363700
HP:0000118	Phenotypic abnormality	4763	NF1	ORPHA:97685
HP:0000118	Phenotypic abnormality	372	ARCN1	OMIM:617164
HP:0000118	Phenotypic abnormality	57167	SALL4	ORPHA:233
HP:0000118	Phenotypic abnormality	57167	SALL4	ORPHA:959
HP:0000118	Phenotypic abnormality	57167	SALL4	ORPHA:2307
HP:0000118	Phenotypic abnormality	9935	MAFB	ORPHA:233
HP:0000118	Phenotypic abnormality	1123	CHN1	ORPHA:233
HP:0000118	Phenotypic abnormality	2137	EXTL3	ORPHA:508533
HP:0000118	Phenotypic abnormality	22827	PUF60	ORPHA:508498
HP:0000118	Phenotypic abnormality	65250	CPLANE1	OMIM:277170
HP:0000118	Phenotypic abnormality	6608	SMO	OMIM:601707
HP:0000118	Phenotypic abnormality	6608	SMO	ORPHA:1553
HP:0000118	Phenotypic abnormality	4750	NEK1	OMIM:263520
HP:0000118	Phenotypic abnormality	2737	GLI3	OMIM:175700
HP:0000118	Phenotypic abnormality	2737	GLI3	ORPHA:380
HP:0000118	Phenotypic abnormality	2737	GLI3	OMIM:174200
HP:0000118	Phenotypic abnormality	64327	LMBR1	ORPHA:2378
HP:0000118	Phenotypic abnormality	64327	LMBR1	OMIM:174500
HP:0000118	Phenotypic abnormality	55027	HEATR3	OMIM:620072
HP:0000118	Phenotypic abnormality	6299	SALL1	OMIM:107480
HP:0000118	Phenotypic abnormality	6299	SALL1	ORPHA:857
HP:0000118	Phenotypic abnormality	55112	DYNC2I1	ORPHA:93271
HP:0000118	Phenotypic abnormality	57560	IFT80	ORPHA:93271
HP:0000118	Phenotypic abnormality	57539	WDR35	ORPHA:93271
HP:0000118	Phenotypic abnormality	79659	DYNC2H1	ORPHA:93271
HP:0000118	Phenotypic abnormality	89891	DYNC2I2	ORPHA:93271
HP:0000118	Phenotypic abnormality	374879	ZNF699	OMIM:619488
HP:0000118	Phenotypic abnormality	374654	KIF7	OMIM:200990
HP:0000118	Phenotypic abnormality	8318	CDC45	OMIM:617063
HP:0000118	Phenotypic abnormality	51339	DACT1	ORPHA:857
HP:0000118	Phenotypic abnormality	2177	FANCD2	OMIM:227646
HP:0000118	Phenotypic abnormality	727857	BHLHA9	ORPHA:3329
HP:0000118	Phenotypic abnormality	23133	PHF8	ORPHA:85287
HP:0000118	Phenotypic abnormality	8481	OFD1	ORPHA:2750
HP:0000118	Phenotypic abnormality	219844	HYLS1	OMIM:236680
HP:0000118	Phenotypic abnormality	26123	TCTN3	ORPHA:2753
HP:0000118	Phenotypic abnormality	26123	TCTN3	ORPHA:564
HP:0000118	Phenotypic abnormality	2697	GJA1	ORPHA:2710
HP:0000118	Phenotypic abnormality	3239	HOXD13	ORPHA:887
HP:0000118	Phenotypic abnormality	7020	TFAP2A	OMIM:113620
HP:0000118	Phenotypic abnormality	7020	TFAP2A	ORPHA:1297
HP:0000118	Phenotypic abnormality	84314	TMEM107	ORPHA:564
HP:0000118	Phenotypic abnormality	79867	TCTN2	ORPHA:564
HP:0000118	Phenotypic abnormality	80776	B9D2	ORPHA:564
HP:0000118	Phenotypic abnormality	79600	TCTN1	ORPHA:564
HP:0000118	Phenotypic abnormality	57096	RPGRIP1	ORPHA:564
HP:0000118	Phenotypic abnormality	79848	CSPP1	ORPHA:564
HP:0000118	Phenotypic abnormality	80184	CEP290	ORPHA:564
HP:0000118	Phenotypic abnormality	51259	TMEM216	ORPHA:564
HP:0000118	Phenotypic abnormality	57545	CC2D2A	ORPHA:564
HP:0000118	Phenotypic abnormality	79583	TMEM231	ORPHA:564
HP:0000118	Phenotypic abnormality	91147	TMEM67	ORPHA:564
HP:0000118	Phenotypic abnormality	79770	TXNDC15	ORPHA:564
HP:0000118	Phenotypic abnormality	27077	B9D1	ORPHA:564
HP:0000118	Phenotypic abnormality	23322	RPGRIP1L	ORPHA:564
HP:0000118	Phenotypic abnormality	54903	MKS1	ORPHA:564
HP:0000118	Phenotypic abnormality	65062	TMEM237	ORPHA:564
HP:0000118	Phenotypic abnormality	10815	CPLX1	ORPHA:280
HP:0000118	Phenotypic abnormality	10815	CPLX1	OMIM:194190
HP:0000118	Phenotypic abnormality	54872	PIGG	ORPHA:280
HP:0000118	Phenotypic abnormality	7469	NELFA	ORPHA:280
HP:0000118	Phenotypic abnormality	1487	CTBP1	ORPHA:280
HP:0000118	Phenotypic abnormality	1487	CTBP1	OMIM:194190
HP:0000118	Phenotypic abnormality	3954	LETM1	ORPHA:280
HP:0000118	Phenotypic abnormality	3954	LETM1	OMIM:194190
HP:0000118	Phenotypic abnormality	7468	NSD2	ORPHA:280
HP:0000118	Phenotypic abnormality	7468	NSD2	OMIM:194190
HP:0000118	Phenotypic abnormality	2735	GLI1	OMIM:174400
HP:0000118	Phenotypic abnormality	53834	FGFRL1	OMIM:194190
HP:0000118	Phenotypic abnormality	9343	EFTUD2	OMIM:610536
HP:0000118	Phenotypic abnormality	9343	EFTUD2	ORPHA:79113
HP:0000118	Phenotypic abnormality	2263	FGFR2	OMIM:101200
HP:0000118	Phenotypic abnormality	54332	GDAP1	OMIM:607706
HP:0000118	Phenotypic abnormality	54332	GDAP1	OMIM:214400
HP:0000118	Phenotypic abnormality	54332	GDAP1	OMIM:608340
HP:0000118	Phenotypic abnormality	5376	PMP22	OMIM:118220
HP:0000118	Phenotypic abnormality	5376	PMP22	OMIM:145900
HP:0000118	Phenotypic abnormality	4747	NEFL	OMIM:607684
HP:0000118	Phenotypic abnormality	3315	HSPB1	OMIM:606595
HP:0000118	Phenotypic abnormality	4359	MPZ	OMIM:118200
HP:0000118	Phenotypic abnormality	4359	MPZ	OMIM:145900
HP:0000118	Phenotypic abnormality	1959	EGR2	OMIM:145900
HP:0000118	Phenotypic abnormality	57716	PRX	OMIM:145900
HP:0000118	Phenotypic abnormality	4358	MPV17	OMIM:618400
HP:0000118	Phenotypic abnormality	81846	SBF2	OMIM:604563
HP:0000118	Phenotypic abnormality	157570	ESCO2	OMIM:268300
HP:0000118	Phenotypic abnormality	9401	RECQL4	ORPHA:1225
HP:0000118	Phenotypic abnormality	25836	NIPBL	OMIM:122470
HP:0000118	Phenotypic abnormality	6154	RPL26	OMIM:614900
HP:0000118	Phenotypic abnormality	10262	SF3B4	ORPHA:1788
HP:0000118	Phenotypic abnormality	1802	DPH2	OMIM:620062
HP:0000118	Phenotypic abnormality	91949	COG7	OMIM:608779
HP:0000118	Phenotypic abnormality	91949	COG7	ORPHA:79333
HP:0000118	Phenotypic abnormality	27238	GPKOW	ORPHA:2570
HP:0000118	Phenotypic abnormality	23141	ANKLE2	OMIM:616681
HP:0000118	Phenotypic abnormality	29895	MYL11	OMIM:619110
HP:0000118	Phenotypic abnormality	5393	EXOSC9	OMIM:618065
HP:0000118	Phenotypic abnormality	55627	SMPD4	OMIM:618622
HP:0000118	Phenotypic abnormality	6804	STX1A	ORPHA:904
HP:0000118	Phenotypic abnormality	7461	CLIP2	ORPHA:904
HP:0000118	Phenotypic abnormality	84277	DNAJC30	ORPHA:904
HP:0000118	Phenotypic abnormality	8468	FKBP6	ORPHA:904
HP:0000118	Phenotypic abnormality	5982	RFC2	ORPHA:904
HP:0000118	Phenotypic abnormality	2969	GTF2I	ORPHA:904
HP:0000118	Phenotypic abnormality	3984	LIMK1	ORPHA:904
HP:0000118	Phenotypic abnormality	9569	GTF2IRD1	ORPHA:904
HP:0000118	Phenotypic abnormality	155382	VPS37D	ORPHA:904
HP:0000118	Phenotypic abnormality	155368	METTL27	ORPHA:904
HP:0000118	Phenotypic abnormality	114049	BUD23	ORPHA:904
HP:0000118	Phenotypic abnormality	7458	EIF4H	ORPHA:904
HP:0000118	Phenotypic abnormality	84163	GTF2IRD2	ORPHA:904
HP:0000118	Phenotypic abnormality	9275	BCL7B	ORPHA:904
HP:0000118	Phenotypic abnormality	26608	TBL2	ORPHA:904
HP:0000118	Phenotypic abnormality	653361	NCF1	ORPHA:904
HP:0000118	Phenotypic abnormality	135886	TMEM270	ORPHA:904
HP:0000118	Phenotypic abnormality	51085	MLXIPL	ORPHA:904
HP:0000118	Phenotypic abnormality	9031	BAZ1B	ORPHA:904
HP:0000118	Phenotypic abnormality	2006	ELN	ORPHA:904
HP:0000118	Phenotypic abnormality	2006	ELN	ORPHA:90348
HP:0000118	Phenotypic abnormality	5832	ALDH18A1	OMIM:616603
HP:0000118	Phenotypic abnormality	5832	ALDH18A1	OMIM:219150
HP:0000118	Phenotypic abnormality	5832	ALDH18A1	ORPHA:90348
HP:0000118	Phenotypic abnormality	347734	SLC35B2	OMIM:620269
HP:0000118	Phenotypic abnormality	84992	PIGY	OMIM:616809
HP:0000118	Phenotypic abnormality	1291	COL6A1	ORPHA:75840
HP:0000118	Phenotypic abnormality	1292	COL6A2	ORPHA:75840
HP:0000118	Phenotypic abnormality	1293	COL6A3	ORPHA:75840
HP:0000118	Phenotypic abnormality	9839	ZEB2	ORPHA:261537
HP:0000118	Phenotypic abnormality	9839	ZEB2	ORPHA:261552
HP:0000118	Phenotypic abnormality	215	ABCD1	ORPHA:388
HP:0000118	Phenotypic abnormality	5979	RET	ORPHA:388
HP:0000118	Phenotypic abnormality	2668	GDNF	ORPHA:388
HP:0000118	Phenotypic abnormality	6720	SREBF1	ORPHA:388
HP:0000118	Phenotypic abnormality	1908	EDN3	ORPHA:388
HP:0000118	Phenotypic abnormality	223117	SEMA3D	ORPHA:388
HP:0000118	Phenotypic abnormality	538	ATP7A	ORPHA:388
HP:0000118	Phenotypic abnormality	1910	EDNRB	ORPHA:388
HP:0000118	Phenotypic abnormality	10512	SEMA3C	ORPHA:388
HP:0000118	Phenotypic abnormality	2064	ERBB2	ORPHA:388
HP:0000118	Phenotypic abnormality	2065	ERBB3	ORPHA:388
HP:0000118	Phenotypic abnormality	4902	NRTN	ORPHA:388
HP:0000118	Phenotypic abnormality	10479	SLC9A6	OMIM:300243
HP:0000118	Phenotypic abnormality	10479	SLC9A6	ORPHA:85278
HP:0000118	Phenotypic abnormality	91754	NEK9	OMIM:617022
HP:0000118	Phenotypic abnormality	5649	RELN	ORPHA:89844
HP:0000118	Phenotypic abnormality	54820	NDE1	ORPHA:89844
HP:0000118	Phenotypic abnormality	6472	SHMT2	OMIM:619121
HP:0000118	Phenotypic abnormality	58	ACTA1	ORPHA:171430
HP:0000118	Phenotypic abnormality	131377	KLHL40	ORPHA:171430
HP:0000118	Phenotypic abnormality	10324	KLHL41	ORPHA:171430
HP:0000118	Phenotypic abnormality	56203	LMOD3	ORPHA:171430
HP:0000118	Phenotypic abnormality	26227	PHGDH	OMIM:601815
HP:0000118	Phenotypic abnormality	26227	PHGDH	ORPHA:79351
HP:0000118	Phenotypic abnormality	202018	TAPT1	OMIM:616897
HP:0000118	Phenotypic abnormality	2201	FBN2	OMIM:121050
HP:0000118	Phenotypic abnormality	91869	RFT1	OMIM:612015
HP:0000118	Phenotypic abnormality	2033	EP300	ORPHA:353284
HP:0000118	Phenotypic abnormality	4621	MYH3	OMIM:618436
HP:0000118	Phenotypic abnormality	4621	MYH3	OMIM:193700
HP:0000118	Phenotypic abnormality	4621	MYH3	ORPHA:1147
HP:0000118	Phenotypic abnormality	4621	MYH3	ORPHA:1146
HP:0000118	Phenotypic abnormality	388015	RTL1	ORPHA:96334
HP:0000118	Phenotypic abnormality	8788	DLK1	ORPHA:96334
HP:0000118	Phenotypic abnormality	55384	MEG3	ORPHA:96334
HP:0000118	Phenotypic abnormality	2067	ERCC1	OMIM:610758
HP:0000118	Phenotypic abnormality	9179	AP4M1	OMIM:612936
HP:0000118	Phenotypic abnormality	126792	B3GALT6	ORPHA:536467
HP:0000118	Phenotypic abnormality	50515	CHST11	OMIM:618167
HP:0000118	Phenotypic abnormality	79868	ALG13	ORPHA:324422
HP:0000118	Phenotypic abnormality	259232	NALCN	OMIM:616266
HP:0000118	Phenotypic abnormality	259232	NALCN	ORPHA:1147
HP:0000118	Phenotypic abnormality	259232	NALCN	ORPHA:1146
HP:0000118	Phenotypic abnormality	23483	TGDS	OMIM:616145
HP:0000118	Phenotypic abnormality	729920	CRPPA	OMIM:614643
HP:0000118	Phenotypic abnormality	7136	TNNI2	ORPHA:1147
HP:0000118	Phenotypic abnormality	7136	TNNI2	ORPHA:1146
HP:0000118	Phenotypic abnormality	10273	STUB1	ORPHA:412057
HP:0000118	Phenotypic abnormality	1387	CREBBP	ORPHA:353277
HP:0000118	Phenotypic abnormality	4604	MYBPC1	ORPHA:1146
HP:0000118	Phenotypic abnormality	10516	FBLN5	ORPHA:90348
HP:0000118	Phenotypic abnormality	81857	MED25	ORPHA:464738
HP:0000118	Phenotypic abnormality	57211	ADGRG6	OMIM:616503
HP:0000118	Phenotypic abnormality	9939	RBM8A	ORPHA:3320
HP:0000118	Phenotypic abnormality	9939	RBM8A	OMIM:274000
HP:0000118	Phenotypic abnormality	10195	ALG3	OMIM:601110
HP:0000118	Phenotypic abnormality	10943	MSL3	OMIM:301032
HP:0000118	Phenotypic abnormality	3977	LIFR	OMIM:601559
HP:0000118	Phenotypic abnormality	9427	ECEL1	OMIM:615065
HP:0000118	Phenotypic abnormality	6999	TDO2	OMIM:600627
HP:0000118	Phenotypic abnormality	84896	ATAD1	OMIM:618011
HP:0000118	Phenotypic abnormality	2036	EPB41L1	OMIM:614257
HP:0000118	Phenotypic abnormality	51002	TPRKB	ORPHA:2065
HP:0000118	Phenotypic abnormality	55644	OSGEP	ORPHA:2065
HP:0000118	Phenotypic abnormality	57122	NUP107	ORPHA:2065
HP:0000118	Phenotypic abnormality	10785	WDR4	ORPHA:2065
HP:0000118	Phenotypic abnormality	55746	NUP133	ORPHA:2065
HP:0000118	Phenotypic abnormality	8270	LAGE3	ORPHA:2065
HP:0000118	Phenotypic abnormality	8367	H4C5	OMIM:619950
HP:0000118	Phenotypic abnormality	9853	RUSC2	OMIM:617773
HP:0000118	Phenotypic abnormality	23019	CNOT1	OMIM:619033
HP:0000118	Phenotypic abnormality	26128	KIFBP	OMIM:609460
HP:0000118	Phenotypic abnormality	2972	BRF1	OMIM:616202
HP:0000118	Phenotypic abnormality	2972	BRF1	ORPHA:444072
HP:0000118	Phenotypic abnormality	56916	SMARCAD1	OMIM:129200
HP:0000118	Phenotypic abnormality	56916	SMARCAD1	OMIM:181600
HP:0000118	Phenotypic abnormality	9578	CDC42BPB	OMIM:619841
HP:0000118	Phenotypic abnormality	3020	H3-3A	OMIM:619720
HP:0000118	Phenotypic abnormality	170302	ARX	OMIM:300004
HP:0000118	Phenotypic abnormality	3021	H3-3B	OMIM:619721
HP:0000118	Phenotypic abnormality	10300	KATNB1	OMIM:616212
HP:0000118	Phenotypic abnormality	2624	GATA2	OMIM:614038
HP:0000118	Phenotypic abnormality	55904	KMT2E	OMIM:618512
HP:0000118	Phenotypic abnormality	10978	CLP1	OMIM:615803
HP:0000118	Phenotypic abnormality	55650	PIGV	OMIM:239300
HP:0000118	Phenotypic abnormality	6335	SCN9A	ORPHA:970
HP:0000118	Phenotypic abnormality	65125	WNK1	ORPHA:970
HP:0000118	Phenotypic abnormality	54463	RETREG1	ORPHA:970
HP:0000118	Phenotypic abnormality	547	KIF1A	ORPHA:970
HP:0000118	Phenotypic abnormality	547	KIF1A	ORPHA:2836
HP:0000118	Phenotypic abnormality	6595	SMARCA2	OMIM:619293
HP:0000118	Phenotypic abnormality	80204	FBXO11	OMIM:618089
HP:0000118	Phenotypic abnormality	113189	CHST14	ORPHA:2953
HP:0000118	Phenotypic abnormality	29940	DSE	ORPHA:2953
HP:0000118	Phenotypic abnormality	1889	ECE1	OMIM:613870
HP:0000118	Phenotypic abnormality	9326	ZNHIT3	ORPHA:2836
HP:0000118	Phenotypic abnormality	9326	ZNHIT3	OMIM:260565
HP:0000118	Phenotypic abnormality	2770	GNAI1	OMIM:619854
HP:0000118	Phenotypic abnormality	157680	VPS13B	OMIM:216550
HP:0000118	Phenotypic abnormality	157680	VPS13B	ORPHA:193
HP:0000118	Phenotypic abnormality	2626	GATA4	ORPHA:251071
HP:0000118	Phenotypic abnormality	84823	LMNB2	OMIM:619180
HP:0000118	Phenotypic abnormality	9896	FIG4	ORPHA:3472
HP:0000118	Phenotypic abnormality	9896	FIG4	OMIM:216340
HP:0000118	Phenotypic abnormality	55697	VAC14	ORPHA:3472
HP:0000118	Phenotypic abnormality	1656	DDX6	OMIM:618653
HP:0000118	Phenotypic abnormality	4297	KMT2A	ORPHA:319182
HP:0000118	Phenotypic abnormality	4297	KMT2A	OMIM:605130
HP:0000118	Phenotypic abnormality	57178	ZMIZ1	OMIM:618659
HP:0000118	Phenotypic abnormality	6792	CDKL5	OMIM:300672
HP:0000118	Phenotypic abnormality	7025	NR2F1	ORPHA:401777
HP:0000118	Phenotypic abnormality	7025	NR2F1	OMIM:615722
HP:0000118	Phenotypic abnormality	253738	EBF3	OMIM:617330
HP:0000118	Phenotypic abnormality	55699	IARS2	OMIM:616007
HP:0000118	Phenotypic abnormality	8239	USP9X	ORPHA:480880
HP:0000118	Phenotypic abnormality	8239	USP9X	OMIM:300968
HP:0000118	Phenotypic abnormality	285175	UNC80	OMIM:616801
HP:0000118	Phenotypic abnormality	79753	SNIP1	OMIM:614501
HP:0000118	Phenotypic abnormality	6134	RPL10	ORPHA:459070
HP:0000118	Phenotypic abnormality	6134	RPL10	OMIM:300998
HP:0000118	Phenotypic abnormality	6134	RPL10	ORPHA:435938
HP:0000118	Phenotypic abnormality	1859	DYRK1A	ORPHA:464311
HP:0000118	Phenotypic abnormality	1859	DYRK1A	ORPHA:268261
HP:0000118	Phenotypic abnormality	1303	COL12A1	ORPHA:536516
HP:0000118	Phenotypic abnormality	51611	DPH5	OMIM:620070
HP:0000118	Phenotypic abnormality	79813	EHMT1	ORPHA:261652
HP:0000118	Phenotypic abnormality	58508	KMT2C	ORPHA:261652
HP:0000118	Phenotypic abnormality	4094	MAF	ORPHA:1272
HP:0000118	Phenotypic abnormality	4094	MAF	OMIM:601088
HP:0000118	Phenotypic abnormality	7750	ZMYM2	OMIM:619522
HP:0000118	Phenotypic abnormality	5594	MAPK1	OMIM:619087
HP:0000118	Phenotypic abnormality	4849	CNOT3	OMIM:618672
HP:0000118	Phenotypic abnormality	6942	TCF20	OMIM:618430
HP:0000118	Phenotypic abnormality	81887	LAS1L	ORPHA:3459
HP:0000118	Phenotypic abnormality	81887	LAS1L	OMIM:309585
HP:0000118	Phenotypic abnormality	55869	HDAC8	ORPHA:3459
HP:0000118	Phenotypic abnormality	7140	TNNT3	OMIM:618435
HP:0000118	Phenotypic abnormality	6925	TCF4	OMIM:610954
HP:0000118	Phenotypic abnormality	6925	TCF4	ORPHA:2896
HP:0000118	Phenotypic abnormality	7030	TFE3	OMIM:301066
HP:0000118	Phenotypic abnormality	546	ATRX	OMIM:309580
HP:0000118	Phenotypic abnormality	546	ATRX	OMIM:301040
HP:0000118	Phenotypic abnormality	84295	PHF6	ORPHA:127
HP:0000118	Phenotypic abnormality	84295	PHF6	OMIM:301900
HP:0000118	Phenotypic abnormality	91252	SLC39A13	ORPHA:157965
HP:0000118	Phenotypic abnormality	91252	SLC39A13	OMIM:612350
HP:0000118	Phenotypic abnormality	55023	PHIP	ORPHA:589905
HP:0000118	Phenotypic abnormality	55023	PHIP	OMIM:617991
HP:0000118	Phenotypic abnormality	9230	RAB11B	OMIM:617807
HP:0000118	Phenotypic abnormality	389827	MYMK	OMIM:254940
HP:0000118	Phenotypic abnormality	10075	HUWE1	OMIM:309590
HP:0000118	Phenotypic abnormality	9488	PIGB	OMIM:618580
HP:0000118	Phenotypic abnormality	8243	SMC1A	OMIM:301044
HP:0000118	Phenotypic abnormality	23013	SPEN	OMIM:619312
HP:0000118	Phenotypic abnormality	56896	DPYSL5	OMIM:619435
HP:0000118	Phenotypic abnormality	9698	PUM1	OMIM:617931
HP:0000118	Phenotypic abnormality	23394	ADNP	OMIM:615873
HP:0000118	Phenotypic abnormality	23028	KDM1A	OMIM:616728
HP:0000118	Phenotypic abnormality	23028	KDM1A	ORPHA:477993
HP:0000118	Phenotypic abnormality	5575	PRKAR1B	OMIM:619680
HP:0000118	Phenotypic abnormality	91179	SCARF2	OMIM:600920
HP:0000118	Phenotypic abnormality	6492	SIM1	ORPHA:171829
HP:0000118	Phenotypic abnormality	4953	ODC1	ORPHA:544488
HP:0000118	Phenotypic abnormality	998	CDC42	OMIM:616737
HP:0000118	Phenotypic abnormality	998	CDC42	ORPHA:487796
HP:0000118	Phenotypic abnormality	3097	HIVEP2	OMIM:616977
HP:0000118	Phenotypic abnormality	10982	MAPRE2	OMIM:616734
HP:0000118	Phenotypic abnormality	4131	MAP1B	OMIM:618918
HP:0000118	Phenotypic abnormality	56915	EXOSC5	OMIM:619576
HP:0000118	Phenotypic abnormality	10588	MTHFS	OMIM:618367
HP:0000118	Phenotypic abnormality	63035	BCORL1	OMIM:301029
HP:0000118	Phenotypic abnormality	10265	IRX5	OMIM:611174
HP:0000118	Phenotypic abnormality	1108	CHD4	OMIM:617159
HP:0000118	Phenotypic abnormality	91137	SLC25A46	OMIM:616505
HP:0000118	Phenotypic abnormality	8604	SLC25A12	OMIM:612949
HP:0000118	Phenotypic abnormality	7703	PCGF2	OMIM:618371
HP:0000118	Phenotypic abnormality	83696	TRAPPC9	ORPHA:352530
HP:0000118	Phenotypic abnormality	92949	ADAMTSL1	ORPHA:521445
HP:0000118	Phenotypic abnormality	54551	MAGEL2	OMIM:615547
HP:0000118	Phenotypic abnormality	2707	GJB3	ORPHA:317
HP:0000118	Phenotypic abnormality	2531	KDSR	ORPHA:317
HP:0000118	Phenotypic abnormality	127534	GJB4	ORPHA:317
HP:0000118	Phenotypic abnormality	9244	CRLF1	OMIM:272430
HP:0000118	Phenotypic abnormality	8812	CCNK	OMIM:618147
HP:0000118	Phenotypic abnormality	112858	TP53RK	OMIM:617730
HP:0000118	Phenotypic abnormality	7204	TRIO	OMIM:618825
HP:0000118	Phenotypic abnormality	7204	TRIO	OMIM:617061
HP:0000118	Phenotypic abnormality	7204	TRIO	ORPHA:476126
HP:0000118	Phenotypic abnormality	9894	TELO2	ORPHA:488642
HP:0000118	Phenotypic abnormality	80036	TRPM3	OMIM:620224
HP:0000118	Phenotypic abnormality	8936	WASF1	OMIM:618707
HP:0000118	Phenotypic abnormality	8405	SPOP	OMIM:618829
HP:0000118	Phenotypic abnormality	23630	KCNE5	ORPHA:86818
HP:0000118	Phenotypic abnormality	2182	ACSL4	ORPHA:86818
HP:0000118	Phenotypic abnormality	9949	AMMECR1	ORPHA:86818
HP:0000118	Phenotypic abnormality	11198	SUPT16H	OMIM:619480
HP:0000118	Phenotypic abnormality	23556	PIGN	ORPHA:280633
HP:0000118	Phenotypic abnormality	23067	SETD1B	OMIM:619000
HP:0000118	Phenotypic abnormality	23233	EXOC6B	OMIM:618395
HP:0000118	Phenotypic abnormality	5075	PAX1	OMIM:615560
HP:0000118	Phenotypic abnormality	55704	CCDC88A	OMIM:617507
HP:0000118	Phenotypic abnormality	1376	CPT2	OMIM:608836
HP:0000118	Phenotypic abnormality	1315	COPB1	OMIM:619255
HP:0000118	Phenotypic abnormality	51317	PHF21A	OMIM:618725
HP:0000118	Phenotypic abnormality	1968	EIF2S3	ORPHA:85282
HP:0000118	Phenotypic abnormality	5557	PRIM1	OMIM:620005
HP:0000118	Phenotypic abnormality	1795	DOCK3	OMIM:618292
HP:0000118	Phenotypic abnormality	3636	INPPL1	ORPHA:2746
HP:0000118	Phenotypic abnormality	11342	RNF13	ORPHA:544503
HP:0000118	Phenotypic abnormality	9990	SLC12A6	OMIM:218000
HP:0000118	Phenotypic abnormality	9791	PTDSS1	OMIM:151050
HP:0000118	Phenotypic abnormality	9759	HDAC4	OMIM:619797
HP:0000118	Phenotypic abnormality	3756	KCNH1	OMIM:135500
HP:0000118	Phenotypic abnormality	57479	PRR12	OMIM:619539
HP:0000118	Phenotypic abnormality	6611	SMS	OMIM:309583
HP:0000118	Phenotypic abnormality	673	BRAF	OMIM:115150
HP:0000118	Phenotypic abnormality	91461	PKDCC	OMIM:618821
HP:0000118	Phenotypic abnormality	92344	GORAB	OMIM:231070
HP:0000118	Phenotypic abnormality	54499	TMCO1	OMIM:213980
HP:0000118	Phenotypic abnormality	387733	IFITM5	OMIM:610967
HP:0000118	Phenotypic abnormality	51633	OTUD6B	ORPHA:505237
HP:0000118	Phenotypic abnormality	23114	NFASC	OMIM:618356
HP:0000118	Phenotypic abnormality	1289	COL5A1	OMIM:130000
HP:0000118	Phenotypic abnormality	1278	COL1A2	OMIM:617821
HP:0000118	Phenotypic abnormality	427	ASAH1	OMIM:228000
HP:0000118	Phenotypic abnormality	9373	PLAA	ORPHA:521426
HP:0000118	Phenotypic abnormality	2783	GNB2	OMIM:619503
HP:0000118	Phenotypic abnormality	3265	HRAS	OMIM:218040
HP:0000118	Phenotypic abnormality	121340	SP7	OMIM:613849
HP:0000118	Phenotypic abnormality	7169	TPM2	OMIM:108120
HP:0000118	Phenotypic abnormality	3187	HNRNPH1	OMIM:620083
HP:0000118	Phenotypic abnormality	8506	CNTNAP1	OMIM:618186
HP:0000118	Phenotypic abnormality	1020	CDK5	OMIM:616342
HP:0000118	Phenotypic abnormality	56006	SMG9	OMIM:616920
HP:0000118	Phenotypic abnormality	2733	GLE1	OMIM:611890
HP:0000118	Phenotypic abnormality	1861	TOR1A	OMIM:618947
HP:0000118	Phenotypic abnormality	55681	SCYL2	OMIM:618766
HP:0000118	Phenotypic abnormality	84942	WDR73	OMIM:251300
HP:0000118	Phenotypic abnormality	7841	MOGS	OMIM:606056
HP:0000118	Phenotypic abnormality	4703	NEB	OMIM:256030
HP:0000118	Phenotypic abnormality	23345	SYNE1	ORPHA:319332
HP:0000118	Phenotypic abnormality	23299	BICD2	OMIM:618291
HP:0000118	Phenotypic abnormality	2317	FLNB	ORPHA:56305
HP:0000118	Phenotypic abnormality	2898	GRIK2	OMIM:619580
HP:0000118	Phenotypic abnormality	57498	KIDINS220	OMIM:619501
HP:0000118	Phenotypic abnormality	80816	ASXL3	OMIM:615485
HP:0000118	Phenotypic abnormality	6536	SLC6A9	OMIM:617301
HP:0000118	Phenotypic abnormality	51741	WWOX	OMIM:616211
HP:0000118	Phenotypic abnormality	84162	BLTP1	OMIM:617822
HP:0000118	Phenotypic abnormality	667	DST	OMIM:614653
HP:0000118	Phenotypic abnormality	2782	GNB1	OMIM:616973
HP:0000118	Phenotypic abnormality	3897	L1CAM	ORPHA:2466
HP:0000118	Phenotypic abnormality	529	ATP6V1E1	OMIM:617402
HP:0000118	Phenotypic abnormality	4654	MYOD1	OMIM:618975
HP:0000118	Phenotypic abnormality	54676	GTPBP2	OMIM:617988
HP:0000118	Phenotypic abnormality	4137	MAPT	ORPHA:240103
HP:0000118	Phenotypic abnormality	10716	TBR1	ORPHA:1617
HP:0000118	Phenotypic abnormality	3736	KCNA1	ORPHA:37612
HP:0000118	Phenotypic abnormality	51199	NIN	OMIM:614851
HP:0000118	Phenotypic abnormality	51199	NIN	ORPHA:319675
HP:0000118	Phenotypic abnormality	9652	SKIC3	OMIM:222470
HP:0000118	Phenotypic abnormality	2294	FOXF1	OMIM:265380
HP:0000118	Phenotypic abnormality	2294	FOXF1	ORPHA:210122
HP:0000118	Phenotypic abnormality	54870	QRICH1	OMIM:617982
HP:0000118	Phenotypic abnormality	55784	MCTP2	ORPHA:1596
HP:0000118	Phenotypic abnormality	84720	PIGO	ORPHA:247262
HP:0000118	Phenotypic abnormality	93210	PGAP3	ORPHA:247262
HP:0000118	Phenotypic abnormality	284098	PIGW	ORPHA:247262
HP:0000118	Phenotypic abnormality	27315	PGAP2	ORPHA:247262
HP:0000118	Phenotypic abnormality	84231	TRAF7	OMIM:618164
HP:0000118	Phenotypic abnormality	10463	SLC30A9	OMIM:617595
HP:0000118	Phenotypic abnormality	10274	STAG1	OMIM:617635
HP:0000118	Phenotypic abnormality	7473	WNT3	OMIM:273395
HP:0000118	Phenotypic abnormality	5062	PAK2	OMIM:618458
HP:0000118	Phenotypic abnormality	4593	MUSK	OMIM:208150
HP:0000118	Phenotypic abnormality	801	CALM1	ORPHA:101016
HP:0000118	Phenotypic abnormality	3753	KCNE1	ORPHA:101016
HP:0000118	Phenotypic abnormality	805	CALM2	ORPHA:101016
HP:0000118	Phenotypic abnormality	6336	SCN10A	ORPHA:101016
HP:0000118	Phenotypic abnormality	3757	KCNH2	ORPHA:101016
HP:0000118	Phenotypic abnormality	9992	KCNE2	ORPHA:101016
HP:0000118	Phenotypic abnormality	10142	AKAP9	ORPHA:101016
HP:0000118	Phenotypic abnormality	3784	KCNQ1	ORPHA:101016
HP:0000118	Phenotypic abnormality	10345	TRDN	ORPHA:101016
HP:0000118	Phenotypic abnormality	6331	SCN5A	ORPHA:101016
HP:0000118	Phenotypic abnormality	6330	SCN4B	ORPHA:101016
HP:0000118	Phenotypic abnormality	808	CALM3	ORPHA:101016
HP:0000118	Phenotypic abnormality	6640	SNTA1	ORPHA:101016
HP:0000118	Phenotypic abnormality	859	CAV3	ORPHA:101016
HP:0000118	Phenotypic abnormality	287	ANK2	ORPHA:101016
HP:0000118	Phenotypic abnormality	1583	CYP11A1	ORPHA:289548
HP:0000118	Phenotypic abnormality	1583	CYP11A1	ORPHA:168558
HP:0000118	Phenotypic abnormality	6304	SATB1	OMIM:619229
HP:0000118	Phenotypic abnormality	404672	GTF2H5	ORPHA:33364
HP:0000118	Phenotypic abnormality	833	CARS1	ORPHA:33364
HP:0000118	Phenotypic abnormality	7737	RNF113A	ORPHA:33364
HP:0000118	Phenotypic abnormality	136647	MPLKIP	ORPHA:33364
HP:0000118	Phenotypic abnormality	6897	TARS1	ORPHA:33364
HP:0000118	Phenotypic abnormality	2071	ERCC3	ORPHA:33364
HP:0000118	Phenotypic abnormality	2961	GTF2E2	ORPHA:33364
HP:0000118	Phenotypic abnormality	6138	RPL15	OMIM:615550
HP:0000118	Phenotypic abnormality	6138	RPL15	ORPHA:124
HP:0000118	Phenotypic abnormality	6125	RPL5	OMIM:612561
HP:0000118	Phenotypic abnormality	6125	RPL5	ORPHA:124
HP:0000118	Phenotypic abnormality	6223	RPS19	OMIM:105650
HP:0000118	Phenotypic abnormality	6223	RPS19	ORPHA:124
HP:0000118	Phenotypic abnormality	6229	RPS24	ORPHA:124
HP:0000118	Phenotypic abnormality	6204	RPS10	ORPHA:124
HP:0000118	Phenotypic abnormality	6165	RPL35A	ORPHA:124
HP:0000118	Phenotypic abnormality	6232	RPS27	ORPHA:124
HP:0000118	Phenotypic abnormality	11224	RPL35	ORPHA:124
HP:0000118	Phenotypic abnormality	6160	RPL31	ORPHA:124
HP:0000118	Phenotypic abnormality	6218	RPS17	ORPHA:124
HP:0000118	Phenotypic abnormality	6201	RPS7	ORPHA:124
HP:0000118	Phenotypic abnormality	6155	RPL27	ORPHA:124
HP:0000118	Phenotypic abnormality	6210	RPS15A	ORPHA:124
HP:0000118	Phenotypic abnormality	90121	TSR2	ORPHA:124
HP:0000118	Phenotypic abnormality	6141	RPL18	ORPHA:124
HP:0000118	Phenotypic abnormality	6235	RPS29	ORPHA:124
HP:0000118	Phenotypic abnormality	6234	RPS28	ORPHA:124
HP:0000118	Phenotypic abnormality	3782	KCNN3	OMIM:618658
HP:0000118	Phenotypic abnormality	8838	CCN6	ORPHA:1159
HP:0000118	Phenotypic abnormality	23451	SF3B1	ORPHA:75564
HP:0000118	Phenotypic abnormality	284252	KCTD1	ORPHA:2036
HP:0000118	Phenotypic abnormality	3248	HPGD	ORPHA:2796
HP:0000118	Phenotypic abnormality	6578	SLCO2A1	ORPHA:2796
HP:0000118	Phenotypic abnormality	5083	PAX9	OMIM:604625
HP:0000118	Phenotypic abnormality	5333	PLCD1	ORPHA:2387
HP:0000118	Phenotypic abnormality	7189	TRAF6	ORPHA:1810
HP:0000118	Phenotypic abnormality	126695	KDF1	ORPHA:1810
HP:0000118	Phenotypic abnormality	4487	MSX1	ORPHA:2228
HP:0000118	Phenotypic abnormality	1300	COL10A1	ORPHA:174
HP:0000118	Phenotypic abnormality	401474	SAMD12	OMIM:601068
HP:0000118	Phenotypic abnormality	401474	SAMD12	ORPHA:86814
HP:0000118	Phenotypic abnormality	6844	VAMP2	OMIM:618760
HP:0000118	Phenotypic abnormality	4323	MMP14	ORPHA:371428
HP:0000118	Phenotypic abnormality	9211	LGI1	ORPHA:101046
HP:0000118	Phenotypic abnormality	23568	ARL2BP	ORPHA:791
HP:0000118	Phenotypic abnormality	4751	NEK2	ORPHA:791
HP:0000118	Phenotypic abnormality	8100	IFT88	ORPHA:791
HP:0000118	Phenotypic abnormality	23020	SNRNP200	ORPHA:791
HP:0000118	Phenotypic abnormality	762	CA4	ORPHA:791
HP:0000118	Phenotypic abnormality	196	AHR	ORPHA:791
HP:0000118	Phenotypic abnormality	25794	FSCN2	ORPHA:791
HP:0000118	Phenotypic abnormality	7275	TUB	ORPHA:791
HP:0000118	Phenotypic abnormality	768206	PRCD	ORPHA:791
HP:0000118	Phenotypic abnormality	5145	PDE6A	ORPHA:791
HP:0000118	Phenotypic abnormality	2979	GUCA1B	ORPHA:791
HP:0000118	Phenotypic abnormality	1258	CNGB1	ORPHA:791
HP:0000118	Phenotypic abnormality	60509	AGBL5	ORPHA:791
HP:0000118	Phenotypic abnormality	388939	PCARE	ORPHA:791
HP:0000118	Phenotypic abnormality	9129	PRPF3	ORPHA:791
HP:0000118	Phenotypic abnormality	55975	KLHL7	ORPHA:791
HP:0000118	Phenotypic abnormality	55975	KLHL7	OMIM:617055
HP:0000118	Phenotypic abnormality	94137	RP1L1	ORPHA:791
HP:0000118	Phenotypic abnormality	5158	PDE6B	ORPHA:791
HP:0000118	Phenotypic abnormality	114327	EFHC1	ORPHA:307
HP:0000118	Phenotypic abnormality	114327	EFHC1	OMIM:254770
HP:0000118	Phenotypic abnormality	8629	JRK	ORPHA:307
HP:0000118	Phenotypic abnormality	8629	JRK	ORPHA:64280
HP:0000118	Phenotypic abnormality	23043	TNIK	OMIM:617028
HP:0000118	Phenotypic abnormality	162	AP1B1	ORPHA:171851
HP:0000118	Phenotypic abnormality	162	AP1B1	OMIM:242150
HP:0000118	Phenotypic abnormality	128	ADH5	OMIM:619151
HP:0000118	Phenotypic abnormality	83879	CDCA7	OMIM:616910
HP:0000118	Phenotypic abnormality	83879	CDCA7	ORPHA:2268
HP:0000118	Phenotypic abnormality	6949	TCOF1	OMIM:154500
HP:0000118	Phenotypic abnormality	1062	CENPE	ORPHA:808
HP:0000118	Phenotypic abnormality	5932	RBBP8	ORPHA:808
HP:0000118	Phenotypic abnormality	5932	RBBP8	OMIM:251255
HP:0000118	Phenotypic abnormality	84126	ATRIP	ORPHA:808
HP:0000118	Phenotypic abnormality	10293	TRAIP	ORPHA:808
HP:0000118	Phenotypic abnormality	10413	YAP1	ORPHA:1473
HP:0000118	Phenotypic abnormality	10413	YAP1	OMIM:120433
HP:0000118	Phenotypic abnormality	7200	TRH	OMIM:275120
HP:0000118	Phenotypic abnormality	23040	MYT1L	OMIM:616521
HP:0000118	Phenotypic abnormality	9076	CLDN1	OMIM:607626
HP:0000118	Phenotypic abnormality	83452	RAB33B	OMIM:615222
HP:0000118	Phenotypic abnormality	109	ADCY3	OMIM:617885
HP:0000118	Phenotypic abnormality	2746	GLUD1	OMIM:606762
HP:0000118	Phenotypic abnormality	51111	KMT5B	OMIM:617788
HP:0000118	Phenotypic abnormality	129685	TAF8	OMIM:619972
HP:0000118	Phenotypic abnormality	10584	COLEC10	OMIM:248340
HP:0000118	Phenotypic abnormality	10584	COLEC10	ORPHA:293843
HP:0000118	Phenotypic abnormality	55109	AGGF1	ORPHA:90308
HP:0000118	Phenotypic abnormality	3612	IMPA1	OMIM:617323
HP:0000118	Phenotypic abnormality	153201	SLC36A2	OMIM:242600
HP:0000118	Phenotypic abnormality	79048	SECISBP2	ORPHA:171706
HP:0000118	Phenotypic abnormality	164656	TMPRSS6	ORPHA:209981
HP:0000118	Phenotypic abnormality	9820	CUL7	OMIM:273750
HP:0000118	Phenotypic abnormality	81620	CDT1	OMIM:613804
HP:0000118	Phenotypic abnormality	81620	CDT1	ORPHA:2554
HP:0000118	Phenotypic abnormality	57020	VPS35L	OMIM:619135
HP:0000118	Phenotypic abnormality	11117	EMILIN1	OMIM:620080
HP:0000118	Phenotypic abnormality	79791	FBXO31	OMIM:615979
HP:0000118	Phenotypic abnormality	10841	FTCD	OMIM:229100
HP:0000118	Phenotypic abnormality	3034	HAL	OMIM:235800
HP:0000118	Phenotypic abnormality	10082	GPC6	ORPHA:93329
HP:0000118	Phenotypic abnormality	23498	HAAO	OMIM:617660
HP:0000118	Phenotypic abnormality	24137	KIF4A	OMIM:300923
HP:0000118	Phenotypic abnormality	64412	GZF1	OMIM:617662
HP:0000118	Phenotypic abnormality	3149	HMGB3	OMIM:300915
HP:0000118	Phenotypic abnormality	8473	OGT	OMIM:300997
HP:0000118	Phenotypic abnormality	3892	KRT86	ORPHA:573
HP:0000118	Phenotypic abnormality	3889	KRT83	ORPHA:573
HP:0000118	Phenotypic abnormality	3887	KRT81	ORPHA:573
HP:0000118	Phenotypic abnormality	27341	RRP7A	OMIM:619453
HP:0000118	Phenotypic abnormality	389856	USP27X	OMIM:300984
HP:0000118	Phenotypic abnormality	55651	NHP2	OMIM:224230
HP:0000118	Phenotypic abnormality	55651	NHP2	OMIM:613987
HP:0000118	Phenotypic abnormality	55505	NOP10	OMIM:224230
HP:0000118	Phenotypic abnormality	10491	CRTAP	OMIM:610682
HP:0000118	Phenotypic abnormality	3953	LEPR	OMIM:614963
HP:0000118	Phenotypic abnormality	79228	THOC6	OMIM:613680
HP:0000118	Phenotypic abnormality	5000	ORC4	ORPHA:2554
HP:0000118	Phenotypic abnormality	990	CDC6	ORPHA:2554
HP:0000118	Phenotypic abnormality	84061	MAGT1	OMIM:301031
HP:0000118	Phenotypic abnormality	84172	POLR1B	OMIM:618939
HP:0000118	Phenotypic abnormality	114928	GPRASP2	OMIM:301018
HP:0000118	Phenotypic abnormality	7991	TUSC3	OMIM:611093
HP:0000118	Phenotypic abnormality	8912	CACNA1H	ORPHA:64280
HP:0000118	Phenotypic abnormality	9524	TECR	OMIM:614020
HP:0000118	Phenotypic abnormality	23761	PISD	OMIM:618889
HP:0000118	Phenotypic abnormality	514	ATP5F1E	OMIM:614053
HP:0000118	Phenotypic abnormality	1789	DNMT3B	OMIM:242860
HP:0000118	Phenotypic abnormality	1789	DNMT3B	ORPHA:2268
HP:0000118	Phenotypic abnormality	145258	GSC	OMIM:602471
HP:0000118	Phenotypic abnormality	53335	BCL11A	OMIM:617101
HP:0000118	Phenotypic abnormality	79882	ZC3H14	OMIM:617125
HP:0000118	Phenotypic abnormality	23154	NCDN	OMIM:619373
HP:0000118	Phenotypic abnormality	23118	TAB2	ORPHA:228410
HP:0000118	Phenotypic abnormality	7102	TSPAN7	OMIM:300210
HP:0000118	Phenotypic abnormality	197257	LDHD	OMIM:245450
HP:0000118	Phenotypic abnormality	78989	COLEC11	OMIM:265050
HP:0000118	Phenotypic abnormality	78989	COLEC11	ORPHA:293843
HP:0000118	Phenotypic abnormality	8671	SLC4A4	OMIM:604278
HP:0000118	Phenotypic abnormality	338917	VSX2	OMIM:610093
HP:0000118	Phenotypic abnormality	6505	SLC1A1	OMIM:222730
HP:0000118	Phenotypic abnormality	151	ADRA2B	ORPHA:86814
HP:0000118	Phenotypic abnormality	10299	MARCHF6	ORPHA:86814
HP:0000118	Phenotypic abnormality	6900	CNTN2	ORPHA:86814
HP:0000118	Phenotypic abnormality	7360	UGP2	OMIM:618744
HP:0000118	Phenotypic abnormality	55209	SETD5	ORPHA:404440
HP:0000118	Phenotypic abnormality	2348	FOLR1	OMIM:613068
HP:0000118	Phenotypic abnormality	5476	CTSA	ORPHA:351
HP:0000118	Phenotypic abnormality	5476	CTSA	OMIM:256540
HP:0000118	Phenotypic abnormality	9636	ISG15	OMIM:616126
HP:0000118	Phenotypic abnormality	57609	DIP2B	OMIM:136630
HP:0000118	Phenotypic abnormality	120	ADD3	OMIM:617008
HP:0000118	Phenotypic abnormality	5426	POLE	OMIM:618336
HP:0000118	Phenotypic abnormality	6448	SGSH	OMIM:252900
HP:0000118	Phenotypic abnormality	1950	EGF	OMIM:611718
HP:0000118	Phenotypic abnormality	6096	RORB	OMIM:618357
HP:0000118	Phenotypic abnormality	346171	ZFP57	ORPHA:99886
HP:0000118	Phenotypic abnormality	57061	HYMAI	ORPHA:99886
HP:0000118	Phenotypic abnormality	5325	PLAGL1	ORPHA:99886
HP:0000118	Phenotypic abnormality	79709	COLGALT1	OMIM:618360
HP:0000118	Phenotypic abnormality	486	FXYD2	OMIM:154020
HP:0000118	Phenotypic abnormality	24140	FTSJ1	OMIM:309549
HP:0000118	Phenotypic abnormality	3054	HCFC1	OMIM:309541
HP:0000118	Phenotypic abnormality	8883	NAE1	OMIM:620210
HP:0000118	Phenotypic abnormality	57477	SHROOM4	ORPHA:85288
HP:0000118	Phenotypic abnormality	23112	TNRC6B	OMIM:619243
HP:0000118	Phenotypic abnormality	2658	GDF2	ORPHA:774
HP:0000118	Phenotypic abnormality	81615	TMEM163	OMIM:620243
HP:0000118	Phenotypic abnormality	1893	ECM1	OMIM:247100
HP:0000118	Phenotypic abnormality	1893	ECM1	ORPHA:530
HP:0000118	Phenotypic abnormality	26960	NBEA	OMIM:619157
HP:0000118	Phenotypic abnormality	224	ALDH3A2	ORPHA:816
HP:0000118	Phenotypic abnormality	224	ALDH3A2	OMIM:270200
HP:0000118	Phenotypic abnormality	429	ASCL1	ORPHA:99803
HP:0000118	Phenotypic abnormality	8929	PHOX2B	ORPHA:99803
HP:0000118	Phenotypic abnormality	8929	PHOX2B	ORPHA:661
HP:0000118	Phenotypic abnormality	8929	PHOX2B	ORPHA:2151
HP:0000118	Phenotypic abnormality	4718	NDUFC2	OMIM:619170
HP:0000118	Phenotypic abnormality	55858	TMEM165	OMIM:614727
HP:0000118	Phenotypic abnormality	54675	CRLS1	OMIM:620167
HP:0000118	Phenotypic abnormality	9184	BUB3	ORPHA:1052
HP:0000118	Phenotypic abnormality	9319	TRIP13	ORPHA:1052
HP:0000118	Phenotypic abnormality	9319	TRIP13	OMIM:617598
HP:0000118	Phenotypic abnormality	55148	UBR7	OMIM:619189
HP:0000118	Phenotypic abnormality	6091	ROBO1	ORPHA:95496
HP:0000118	Phenotypic abnormality	23432	GPR161	ORPHA:95496
HP:0000118	Phenotypic abnormality	79759	ZNF668	OMIM:620194
HP:0000118	Phenotypic abnormality	283209	PGM2L1	OMIM:620191
HP:0000118	Phenotypic abnormality	1013	CDH15	OMIM:612580
HP:0000118	Phenotypic abnormality	11235	PDCD10	OMIM:603285
HP:0000118	Phenotypic abnormality	11235	PDCD10	ORPHA:221061
HP:0000118	Phenotypic abnormality	3661	IRF3	OMIM:616532
HP:0000118	Phenotypic abnormality	10577	NPC2	OMIM:607625
HP:0000118	Phenotypic abnormality	2806	GOT2	OMIM:618721
HP:0000118	Phenotypic abnormality	57647	DHX37	OMIM:618731
HP:0000118	Phenotypic abnormality	2212	FCGR2A	OMIM:152700
HP:0000118	Phenotypic abnormality	2213	FCGR2B	OMIM:152700
HP:0000118	Phenotypic abnormality	1773	DNASE1	OMIM:152700
HP:0000118	Phenotypic abnormality	2811	GP1BA	ORPHA:274
HP:0000118	Phenotypic abnormality	2815	GP9	ORPHA:274
HP:0000118	Phenotypic abnormality	343450	KCNT2	OMIM:617771
HP:0000118	Phenotypic abnormality	6855	SYP	OMIM:300802
HP:0000118	Phenotypic abnormality	55689	YEATS2	OMIM:615127
HP:0000118	Phenotypic abnormality	55870	ASH1L	OMIM:617796
HP:0000118	Phenotypic abnormality	9213	XPR1	ORPHA:1980
HP:0000118	Phenotypic abnormality	9213	XPR1	OMIM:616413
HP:0000118	Phenotypic abnormality	22884	WDR37	OMIM:618652
HP:0000118	Phenotypic abnormality	7862	BRPF1	OMIM:617333
HP:0000118	Phenotypic abnormality	131405	TRIM71	OMIM:618667
HP:0000118	Phenotypic abnormality	8676	STX11	OMIM:603552
HP:0000118	Phenotypic abnormality	8676	STX11	ORPHA:540
HP:0000118	Phenotypic abnormality	554	AVPR2	ORPHA:223
HP:0000118	Phenotypic abnormality	554	AVPR2	OMIM:304800
HP:0000118	Phenotypic abnormality	359	AQP2	ORPHA:223
HP:0000118	Phenotypic abnormality	359	AQP2	OMIM:125800
HP:0000118	Phenotypic abnormality	2157	F8	ORPHA:169805
HP:0000118	Phenotypic abnormality	55217	TMLHE	OMIM:300872
HP:0000118	Phenotypic abnormality	627	BDNF	ORPHA:661
HP:0000118	Phenotypic abnormality	650	BMP2	ORPHA:261295
HP:0000118	Phenotypic abnormality	162514	TRPV3	ORPHA:659
HP:0000118	Phenotypic abnormality	1491	CTH	ORPHA:212
HP:0000118	Phenotypic abnormality	6898	TAT	ORPHA:28378
HP:0000118	Phenotypic abnormality	57003	CCDC47	OMIM:618268
HP:0000118	Phenotypic abnormality	8915	BCL10	OMIM:616098
HP:0000118	Phenotypic abnormality	7504	XK	OMIM:300842
HP:0000118	Phenotypic abnormality	8911	CACNA1I	OMIM:620114
HP:0000118	Phenotypic abnormality	3593	IL12B	ORPHA:3287
HP:0000118	Phenotypic abnormality	6945	MLX	ORPHA:3287
HP:0000118	Phenotypic abnormality	8665	EIF3F	OMIM:618295
HP:0000118	Phenotypic abnormality	375	ARF1	OMIM:618185
HP:0000118	Phenotypic abnormality	83700	JAM3	OMIM:613730
HP:0000118	Phenotypic abnormality	118987	PDZD8	OMIM:620021
HP:0000118	Phenotypic abnormality	80222	TARS2	OMIM:615918
HP:0000118	Phenotypic abnormality	63908	NAPB	OMIM:620033
HP:0000118	Phenotypic abnormality	10015	PDCD6IP	OMIM:620047
HP:0000118	Phenotypic abnormality	23461	ABCA5	ORPHA:2026
HP:0000118	Phenotypic abnormality	9719	ADAMTSL2	OMIM:231050
HP:0000118	Phenotypic abnormality	22859	ADGRL1	OMIM:620065
HP:0000118	Phenotypic abnormality	5591	PRKDC	OMIM:615966
HP:0000118	Phenotypic abnormality	6253	RTN2	ORPHA:100993
HP:0000118	Phenotypic abnormality	54413	NLGN3	OMIM:300425
HP:0000118	Phenotypic abnormality	6683	SPAST	ORPHA:100985
HP:0000118	Phenotypic abnormality	471	ATIC	ORPHA:250977
HP:0000118	Phenotypic abnormality	471	ATIC	OMIM:608688
HP:0000118	Phenotypic abnormality	5498	PPOX	ORPHA:79473
HP:0000118	Phenotypic abnormality	81562	LMAN2L	OMIM:616887
HP:0000118	Phenotypic abnormality	51124	IER3IP1	OMIM:614231
HP:0000118	Phenotypic abnormality	5495	PPM1B	ORPHA:163693
HP:0000118	Phenotypic abnormality	6519	SLC3A1	ORPHA:163693
HP:0000118	Phenotypic abnormality	79823	CAMKMT	ORPHA:163693
HP:0000118	Phenotypic abnormality	10369	CACNG2	OMIM:614256
HP:0000118	Phenotypic abnormality	91801	ALKBH8	OMIM:618504
HP:0000118	Phenotypic abnormality	4571	MT-TP	OMIM:545000
HP:0000118	Phenotypic abnormality	4565	MT-TI	OMIM:545000
HP:0000118	Phenotypic abnormality	23327	NEDD4L	OMIM:617201
HP:0000118	Phenotypic abnormality	3590	IL11RA	OMIM:614188
HP:0000118	Phenotypic abnormality	56098	PCDHGC4	OMIM:619880
HP:0000118	Phenotypic abnormality	27068	PPA2	OMIM:617222
HP:0000118	Phenotypic abnormality	3773	KCNJ16	OMIM:619406
HP:0000118	Phenotypic abnormality	1758	DMP1	ORPHA:289176
HP:0000118	Phenotypic abnormality	55656	INTS8	OMIM:618572
HP:0000118	Phenotypic abnormality	4212	MEIS2	ORPHA:261190
HP:0000118	Phenotypic abnormality	160418	TMTC3	OMIM:617255
HP:0000118	Phenotypic abnormality	201294	UNC13D	ORPHA:540
HP:0000118	Phenotypic abnormality	6813	STXBP2	ORPHA:540
HP:0000118	Phenotypic abnormality	3376	IARS1	ORPHA:541423
HP:0000118	Phenotypic abnormality	3376	IARS1	OMIM:617093
HP:0000118	Phenotypic abnormality	80311	KLHL15	OMIM:300982
HP:0000118	Phenotypic abnormality	6045	RNF2	OMIM:619460
HP:0000118	Phenotypic abnormality	9758	FRMPD4	OMIM:300983
HP:0000118	Phenotypic abnormality	2222	FDFT1	OMIM:618156
HP:0000118	Phenotypic abnormality	3090	HIC1	ORPHA:531
HP:0000118	Phenotypic abnormality	7531	YWHAE	ORPHA:531
HP:0000118	Phenotypic abnormality	63899	NSUN3	OMIM:619012
HP:0000118	Phenotypic abnormality	84081	NSRP1	OMIM:620001
HP:0000118	Phenotypic abnormality	55294	FBXW7	OMIM:620012
HP:0000118	Phenotypic abnormality	23241	PACS2	OMIM:618067
HP:0000118	Phenotypic abnormality	9693	RAPGEF2	OMIM:618075
HP:0000118	Phenotypic abnormality	63916	ELMO2	ORPHA:3019
HP:0000118	Phenotypic abnormality	5624	PROC	OMIM:612304
HP:0000118	Phenotypic abnormality	3418	IDH2	OMIM:613657
HP:0000118	Phenotypic abnormality	10436	EMG1	ORPHA:1270
HP:0000118	Phenotypic abnormality	5627	PROS1	OMIM:614514
HP:0000118	Phenotypic abnormality	57393	CLTRN	ORPHA:2116
HP:0000118	Phenotypic abnormality	440193	CCDC88C	OMIM:236600
HP:0000118	Phenotypic abnormality	80331	DNAJC5	OMIM:162350
HP:0000118	Phenotypic abnormality	57674	RNF213	ORPHA:2573
HP:0000118	Phenotypic abnormality	889	KRIT1	ORPHA:221061
HP:0000118	Phenotypic abnormality	889	KRIT1	OMIM:116860
HP:0000118	Phenotypic abnormality	3796	KIF2A	OMIM:615411
HP:0000118	Phenotypic abnormality	100506658	OCLN	ORPHA:1229
HP:0000118	Phenotypic abnormality	100506658	OCLN	OMIM:251290
HP:0000118	Phenotypic abnormality	63932	STEEP1	OMIM:301013
HP:0000118	Phenotypic abnormality	6182	MRPL12	OMIM:618951
HP:0000118	Phenotypic abnormality	8192	CLPP	OMIM:614129
HP:0000118	Phenotypic abnormality	11141	IL1RAPL1	OMIM:300143
HP:0000118	Phenotypic abnormality	55367	PIDD1	OMIM:619827
HP:0000118	Phenotypic abnormality	84148	KAT8	OMIM:618974
HP:0000118	Phenotypic abnormality	79776	ZFHX4	ORPHA:91411
HP:0000118	Phenotypic abnormality	3158	HMGCS2	ORPHA:35701
HP:0000118	Phenotypic abnormality	249	ALPL	OMIM:241500
HP:0000118	Phenotypic abnormality	249	ALPL	OMIM:241510
HP:0000118	Phenotypic abnormality	375387	NRROS	OMIM:618875
HP:0000118	Phenotypic abnormality	8364	H4C3	OMIM:619758
HP:0000118	Phenotypic abnormality	51117	COQ4	OMIM:616276
HP:0000118	Phenotypic abnormality	5898	RALA	OMIM:619311
HP:0000118	Phenotypic abnormality	1725	DHPS	OMIM:618480
HP:0000118	Phenotypic abnormality	2560	GABRB1	OMIM:617153
HP:0000118	Phenotypic abnormality	2530	FUT8	OMIM:618005
HP:0000118	Phenotypic abnormality	3198	HOXA1	OMIM:601536
HP:0000118	Phenotypic abnormality	10295	BCKDK	OMIM:614923
HP:0000118	Phenotypic abnormality	55074	OXR1	OMIM:213000
HP:0000118	Phenotypic abnormality	9095	TBX19	OMIM:201400
HP:0000118	Phenotypic abnormality	51574	LARP7	ORPHA:319671
HP:0000118	Phenotypic abnormality	10695	CNPY3	OMIM:617929
HP:0000118	Phenotypic abnormality	1643	DDB2	ORPHA:910
HP:0000118	Phenotypic abnormality	56270	WDR45B	OMIM:617977
HP:0000118	Phenotypic abnormality	51294	PCDH12	OMIM:251280
HP:0000118	Phenotypic abnormality	9130	FAM50A	OMIM:300261
HP:0000118	Phenotypic abnormality	8738	CRADD	OMIM:614499
HP:0000118	Phenotypic abnormality	10111	RAD50	OMIM:613078
HP:0000118	Phenotypic abnormality	4549	MT-RNR1	ORPHA:551
HP:0000118	Phenotypic abnormality	144165	PRICKLE1	ORPHA:308
HP:0000118	Phenotypic abnormality	144165	PRICKLE1	OMIM:612437
HP:0000118	Phenotypic abnormality	785	CACNB4	OMIM:613855
HP:0000118	Phenotypic abnormality	785	CACNB4	ORPHA:211067
HP:0000118	Phenotypic abnormality	823	CAPN1	OMIM:616907
HP:0000118	Phenotypic abnormality	823	CAPN1	ORPHA:488594
HP:0000118	Phenotypic abnormality	51308	REEP2	OMIM:615625
HP:0000118	Phenotypic abnormality	2821	GPI	OMIM:613470
HP:0000118	Phenotypic abnormality	131669	UROC1	OMIM:276880
HP:0000118	Phenotypic abnormality	131669	UROC1	ORPHA:210128
HP:0000118	Phenotypic abnormality	56910	STARD7	OMIM:607876
HP:0000118	Phenotypic abnormality	9699	RIMS2	OMIM:618970
HP:0000118	Phenotypic abnormality	27089	UQCRQ	OMIM:615159
HP:0000118	Phenotypic abnormality	9474	ATG5	OMIM:617584
HP:0000118	Phenotypic abnormality	1356	CP	ORPHA:48818
HP:0000118	Phenotypic abnormality	1356	CP	OMIM:604290
HP:0000118	Phenotypic abnormality	8996	NOL3	OMIM:614937
HP:0000118	Phenotypic abnormality	2299	FOXI1	ORPHA:705
HP:0000118	Phenotypic abnormality	6301	SARS1	OMIM:617709
HP:0000118	Phenotypic abnormality	79955	PDZD7	ORPHA:231178
HP:0000118	Phenotypic abnormality	25861	WHRN	ORPHA:231178
HP:0000118	Phenotypic abnormality	124590	USH1G	ORPHA:231169
HP:0000118	Phenotypic abnormality	83715	ESPN	ORPHA:231169
HP:0000118	Phenotypic abnormality	55753	OGDHL	OMIM:619701
HP:0000118	Phenotypic abnormality	5593	PRKG2	OMIM:619638
HP:0000118	Phenotypic abnormality	5593	PRKG2	OMIM:619636
HP:0000118	Phenotypic abnormality	9354	UBE4A	OMIM:619639
HP:0000118	Phenotypic abnormality	5605	MAP2K2	OMIM:615280
HP:0000118	Phenotypic abnormality	5605	MAP2K2	ORPHA:1340
HP:0000118	Phenotypic abnormality	2671	GFER	ORPHA:330054
HP:0000118	Phenotypic abnormality	5515	PPP2CA	OMIM:618354
HP:0000118	Phenotypic abnormality	64856	VWA1	OMIM:619216
HP:0000118	Phenotypic abnormality	27107	ZBTB11	OMIM:618383
HP:0000118	Phenotypic abnormality	5264	PHYH	ORPHA:773
HP:0000118	Phenotypic abnormality	2801	GOLGA2	OMIM:620240
HP:0000118	Phenotypic abnormality	3675	ITGA3	OMIM:614748
HP:0000118	Phenotypic abnormality	27034	ACAD8	OMIM:611283
HP:0000118	Phenotypic abnormality	27034	ACAD8	ORPHA:79159
HP:0000118	Phenotypic abnormality	388753	COA6	OMIM:616501
HP:0000118	Phenotypic abnormality	6678	SPARC	OMIM:616507
HP:0000118	Phenotypic abnormality	55180	LINS1	OMIM:614340
HP:0000118	Phenotypic abnormality	8294	H4C9	OMIM:619951
HP:0000118	Phenotypic abnormality	1501	CTNND2	ORPHA:281
HP:0000118	Phenotypic abnormality	9037	SEMA5A	ORPHA:281
HP:0000118	Phenotypic abnormality	497661	C18orf32	OMIM:619985
HP:0000118	Phenotypic abnormality	23189	KANK1	OMIM:612900
HP:0000118	Phenotypic abnormality	55628	ZNF407	OMIM:619557
HP:0000118	Phenotypic abnormality	22796	COG2	OMIM:617395
HP:0000118	Phenotypic abnormality	5250	SLC25A3	OMIM:610773
HP:0000118	Phenotypic abnormality	5250	SLC25A3	ORPHA:91130
HP:0000118	Phenotypic abnormality	2683	B4GALT1	OMIM:607091
HP:0000118	Phenotypic abnormality	55526	DHTKD1	OMIM:204750
HP:0000118	Phenotypic abnormality	54938	SARS2	OMIM:613845
HP:0000118	Phenotypic abnormality	79717	PPCS	OMIM:618189
HP:0000118	Phenotypic abnormality	9871	SEC24D	ORPHA:2050
HP:0000118	Phenotypic abnormality	9871	SEC24D	OMIM:616294
HP:0000118	Phenotypic abnormality	5034	P4HB	ORPHA:2050
HP:0000118	Phenotypic abnormality	55325	UFSP2	OMIM:620028
HP:0000118	Phenotypic abnormality	112755	STX1B	ORPHA:36387
HP:0000118	Phenotypic abnormality	84059	ADGRV1	ORPHA:36387
HP:0000118	Phenotypic abnormality	1642	DDB1	OMIM:619426
HP:0000118	Phenotypic abnormality	3039	HBA1	ORPHA:98791
HP:0000118	Phenotypic abnormality	3040	HBA2	ORPHA:98791
HP:0000118	Phenotypic abnormality	80267	EDEM3	OMIM:619493
HP:0000118	Phenotypic abnormality	23325	WASHC4	OMIM:615817
HP:0000118	Phenotypic abnormality	4329	ALDH6A1	OMIM:614105
HP:0000118	Phenotypic abnormality	3425	IDUA	ORPHA:93473
HP:0000118	Phenotypic abnormality	60528	ELAC2	OMIM:615440
HP:0000118	Phenotypic abnormality	4056	LTC4S	OMIM:614037
HP:0000118	Phenotypic abnormality	27102	EIF2AK1	OMIM:618878
HP:0000118	Phenotypic abnormality	142680	SLC34A3	OMIM:241530
HP:0000118	Phenotypic abnormality	8363	H4C11	OMIM:619759
HP:0000118	Phenotypic abnormality	4509	MT-ATP8	ORPHA:480
HP:0000118	Phenotypic abnormality	51013	EXOSC1	OMIM:619304
HP:0000118	Phenotypic abnormality	8869	ST3GAL5	OMIM:609056
HP:0000118	Phenotypic abnormality	9969	MED13	OMIM:618009
HP:0000118	Phenotypic abnormality	1984	EIF5A	OMIM:619376
HP:0000118	Phenotypic abnormality	5859	QARS1	OMIM:615760
HP:0000118	Phenotypic abnormality	5172	SLC26A4	ORPHA:95720
HP:0000118	Phenotypic abnormality	5172	SLC26A4	ORPHA:95713
HP:0000118	Phenotypic abnormality	2304	FOXE1	ORPHA:95713
HP:0000118	Phenotypic abnormality	2108	ETFA	OMIM:231680
HP:0000118	Phenotypic abnormality	2109	ETFB	OMIM:231680
HP:0000118	Phenotypic abnormality	2110	ETFDH	OMIM:231680
HP:0000118	Phenotypic abnormality	229	ALDOB	OMIM:229600
HP:0000118	Phenotypic abnormality	229	ALDOB	ORPHA:469
HP:0000118	Phenotypic abnormality	148738	HJV	OMIM:602390
HP:0000118	Phenotypic abnormality	148738	HJV	ORPHA:79230
HP:0000118	Phenotypic abnormality	79783	SUGCT	ORPHA:35706
HP:0000118	Phenotypic abnormality	7849	PAX8	OMIM:218700
HP:0000118	Phenotypic abnormality	5095	PCCA	OMIM:606054
HP:0000118	Phenotypic abnormality	5096	PCCB	OMIM:606054
HP:0000118	Phenotypic abnormality	9377	COX5A	OMIM:619064
HP:0000118	Phenotypic abnormality	55065	SLC52A1	OMIM:615026
HP:0000118	Phenotypic abnormality	1591	CYP24A1	OMIM:143880
HP:0000118	Phenotypic abnormality	50506	DUOX2	ORPHA:226316
HP:0000118	Phenotypic abnormality	50506	DUOX2	ORPHA:95716
HP:0000118	Phenotypic abnormality	84833	ATP5MK	OMIM:618683
HP:0000118	Phenotypic abnormality	654	BMP6	ORPHA:465508
HP:0000118	Phenotypic abnormality	7201	TRHR	ORPHA:99832
HP:0000118	Phenotypic abnormality	7201	TRHR	OMIM:618573
HP:0000118	Phenotypic abnormality	6528	SLC5A5	OMIM:274400
HP:0000118	Phenotypic abnormality	6528	SLC5A5	ORPHA:95716
HP:0000118	Phenotypic abnormality	6948	TCN2	OMIM:275350
HP:0000118	Phenotypic abnormality	3875	KRT18	OMIM:215600
HP:0000118	Phenotypic abnormality	2710	GK	OMIM:307030
HP:0000118	Phenotypic abnormality	7019	TFAM	OMIM:617156
HP:0000118	Phenotypic abnormality	405753	DUOXA2	ORPHA:95716
HP:0000118	Phenotypic abnormality	7038	TG	ORPHA:95716
HP:0000118	Phenotypic abnormality	7173	TPO	ORPHA:95716
HP:0000118	Phenotypic abnormality	389434	IYD	ORPHA:95716
HP:0000118	Phenotypic abnormality	3712	IVD	OMIM:243500
HP:0000118	Phenotypic abnormality	3172	HNF4A	ORPHA:263455
HP:0000118	Phenotypic abnormality	57817	HAMP	ORPHA:79230
HP:0000118	Phenotypic abnormality	435	ASL	OMIM:207900
HP:0000118	Phenotypic abnormality	2998	GYS2	ORPHA:2089
HP:0000118	Phenotypic abnormality	2203	FBP1	OMIM:229700
HP:0000118	Phenotypic abnormality	551	AVP	ORPHA:30925
HP:0000118	Phenotypic abnormality	1807	DPYS	OMIM:222748
HP:0000118	Phenotypic abnormality	9054	NFS1	OMIM:619386
HP:0000118	Phenotypic abnormality	51256	TBC1D7	OMIM:248000
HP:0000118	Phenotypic abnormality	4522	MTHFD1	OMIM:617780
HP:0000118	Phenotypic abnormality	8309	ACOX2	OMIM:617308
HP:0000118	Phenotypic abnormality	57156	TMEM63C	OMIM:619966
HP:0000118	Phenotypic abnormality	7086	TKT	ORPHA:488618
HP:0000118	Phenotypic abnormality	90	ACVR1	OMIM:135100
HP:0000118	Phenotypic abnormality	178	AGL	ORPHA:366
HP:0000118	Phenotypic abnormality	2742	GLRA2	OMIM:301076
HP:0000118	Phenotypic abnormality	3242	HPD	OMIM:276710
HP:0000118	Phenotypic abnormality	3242	HPD	OMIM:140350
HP:0000118	Phenotypic abnormality	4568	MT-TL2	ORPHA:663
HP:0000118	Phenotypic abnormality	537	ATP6AP1	OMIM:300972
HP:0000118	Phenotypic abnormality	4998	ORC1	OMIM:224690
HP:0000118	Phenotypic abnormality	2664	GDI1	OMIM:300849
HP:0000118	Phenotypic abnormality	10013	HDAC6	OMIM:300863
HP:0000118	Phenotypic abnormality	10013	HDAC6	ORPHA:163966
HP:0000118	Phenotypic abnormality	4613	MYCN	OMIM:164280
HP:0000118	Phenotypic abnormality	55213	RCBTB1	OMIM:617175
HP:0000118	Phenotypic abnormality	84905	ZNF341	OMIM:618282
HP:0000118	Phenotypic abnormality	4256	MGP	OMIM:245150
HP:0000118	Phenotypic abnormality	4256	MGP	ORPHA:85202
HP:0000118	Phenotypic abnormality	375056	MIA3	OMIM:619269
HP:0000118	Phenotypic abnormality	6853	SYN1	OMIM:300115
HP:0000118	Phenotypic abnormality	84282	RNF135	ORPHA:137634
HP:0000118	Phenotypic abnormality	55780	ERMARD	ORPHA:75857
HP:0000118	Phenotypic abnormality	124512	METTL23	OMIM:615942
HP:0000118	Phenotypic abnormality	254065	BRWD3	OMIM:300659
HP:0000118	Phenotypic abnormality	92154	MTSS2	OMIM:620086
HP:0000118	Phenotypic abnormality	5648	MASP1	OMIM:257920
HP:0000118	Phenotypic abnormality	84816	RTN4IP1	OMIM:616732
HP:0000118	Phenotypic abnormality	169792	GLIS3	OMIM:610199
HP:0000118	Phenotypic abnormality	2122	MECOM	OMIM:616738
HP:0000118	Phenotypic abnormality	20	ABCA2	OMIM:618808
HP:0000118	Phenotypic abnormality	51185	CRBN	OMIM:607417
HP:0000118	Phenotypic abnormality	57599	WDR48	ORPHA:401800
HP:0000118	Phenotypic abnormality	4780	NFE2L2	OMIM:617744
HP:0000118	Phenotypic abnormality	57502	NLGN4X	OMIM:300495
HP:0000118	Phenotypic abnormality	119559	SFXN4	OMIM:615578
HP:0000118	Phenotypic abnormality	51663	ZFR	ORPHA:401840
HP:0000118	Phenotypic abnormality	23309	SIN3B	ORPHA:500166
HP:0000118	Phenotypic abnormality	23001	WDFY3	OMIM:617520
HP:0000118	Phenotypic abnormality	23236	PLCB1	OMIM:613722
HP:0000118	Phenotypic abnormality	8148	TAF15	ORPHA:803
HP:0000118	Phenotypic abnormality	5445	PON2	ORPHA:803
HP:0000118	Phenotypic abnormality	55830	GLT8D1	ORPHA:803
HP:0000118	Phenotypic abnormality	755	CFAP410	ORPHA:803
HP:0000118	Phenotypic abnormality	10891	PPARGC1A	ORPHA:803
HP:0000118	Phenotypic abnormality	5444	PON1	ORPHA:803
HP:0000118	Phenotypic abnormality	5446	PON3	ORPHA:803
HP:0000118	Phenotypic abnormality	2043	EPHA4	ORPHA:803
HP:0000118	Phenotypic abnormality	1610	DAO	ORPHA:803
HP:0000118	Phenotypic abnormality	2066	ERBB4	ORPHA:803
HP:0000118	Phenotypic abnormality	23025	UNC13A	ORPHA:803
HP:0000118	Phenotypic abnormality	5133	PDCD1	OMIM:126200
HP:0000118	Phenotypic abnormality	80821	DDHD1	OMIM:609340
HP:0000118	Phenotypic abnormality	518	ATP5MC3	OMIM:619681
HP:0000118	Phenotypic abnormality	118813	ZFYVE27	OMIM:610244
HP:0000118	Phenotypic abnormality	58472	SQOR	OMIM:619221
HP:0000118	Phenotypic abnormality	10068	IL18BP	OMIM:618549
HP:0000118	Phenotypic abnormality	5010	CLDN11	OMIM:619328
HP:0000118	Phenotypic abnormality	29978	UBQLN2	OMIM:300857
HP:0000118	Phenotypic abnormality	1814	DRD3	OMIM:190300
HP:0000118	Phenotypic abnormality	5216	PFN1	OMIM:614808
HP:0000118	Phenotypic abnormality	899	CCNF	OMIM:619141
HP:0000118	Phenotypic abnormality	25793	FBXO7	OMIM:260300
HP:0000118	Phenotypic abnormality	2747	GLUD2	OMIM:168600
HP:0000118	Phenotypic abnormality	126	ADH1C	OMIM:168600
HP:0000118	Phenotypic abnormality	9627	SNCAIP	OMIM:168600
HP:0000118	Phenotypic abnormality	23769	FLRT1	ORPHA:320406
HP:0000118	Phenotypic abnormality	3211	HOXB1	OMIM:614744
HP:0000118	Phenotypic abnormality	10133	OPTN	OMIM:613435
HP:0000118	Phenotypic abnormality	5630	PRPH	OMIM:105400
HP:0000118	Phenotypic abnormality	11311	VPS45	OMIM:615285
HP:0000118	Phenotypic abnormality	6888	TALDO1	ORPHA:101028
HP:0000118	Phenotypic abnormality	7372	UMPS	ORPHA:30
HP:0000118	Phenotypic abnormality	7372	UMPS	OMIM:258900
HP:0000118	Phenotypic abnormality	84068	SLC10A7	OMIM:618363
HP:0000118	Phenotypic abnormality	51729	WBP11	OMIM:619227
HP:0000118	Phenotypic abnormality	55181	SMG8	OMIM:619268
HP:0000118	Phenotypic abnormality	415	ARSL	OMIM:302950
HP:0000118	Phenotypic abnormality	415	ARSL	ORPHA:79345
HP:0000118	Phenotypic abnormality	121278	TPH2	OMIM:613003
HP:0000118	Phenotypic abnormality	80152	CENPT	OMIM:618702
HP:0000118	Phenotypic abnormality	10736	SIX2	ORPHA:488437
HP:0000118	Phenotypic abnormality	10565	ARFGEF1	OMIM:619964
HP:0000118	Phenotypic abnormality	3284	HSD3B2	ORPHA:90791
HP:0000118	Phenotypic abnormality	23184	MESD	OMIM:618644
HP:0000118	Phenotypic abnormality	79184	BRCC3	ORPHA:280679
HP:0000118	Phenotypic abnormality	85301	COL27A1	OMIM:615155
HP:0000118	Phenotypic abnormality	213	ALB	OMIM:616000
HP:0000118	Phenotypic abnormality	7385	UQCRC2	OMIM:615160
HP:0000118	Phenotypic abnormality	23405	DICER1	OMIM:618272
HP:0000118	Phenotypic abnormality	28958	COA3	OMIM:619058
HP:0000118	Phenotypic abnormality	23265	EXOC7	OMIM:619072
HP:0000118	Phenotypic abnormality	51244	CCDC174	OMIM:616816
HP:0000118	Phenotypic abnormality	54862	CC2D1A	OMIM:608443
HP:0000118	Phenotypic abnormality	9080	CLDN9	OMIM:619093
HP:0000118	Phenotypic abnormality	9775	EIF4A3	OMIM:268305
HP:0000118	Phenotypic abnormality	51025	PAM16	OMIM:613320
HP:0000118	Phenotypic abnormality	865	CBFB	OMIM:620099
HP:0000118	Phenotypic abnormality	10765	KDM5B	OMIM:618109
HP:0000118	Phenotypic abnormality	23258	DENND5A	OMIM:617281
HP:0000118	Phenotypic abnormality	3988	LIPA	ORPHA:75233
HP:0000118	Phenotypic abnormality	11151	CORO1A	OMIM:615401
HP:0000118	Phenotypic abnormality	8985	PLOD3	OMIM:612394
HP:0000118	Phenotypic abnormality	11222	MRPL3	OMIM:614582
HP:0000118	Phenotypic abnormality	10319	LAMC3	OMIM:614115
HP:0000118	Phenotypic abnormality	6650	CAPN15	OMIM:619318
HP:0000118	Phenotypic abnormality	4081	MAB21L1	OMIM:618479
HP:0000118	Phenotypic abnormality	84701	COX4I2	OMIM:612714
HP:0000118	Phenotypic abnormality	3674	ITGA2B	ORPHA:853
HP:0000118	Phenotypic abnormality	3673	ITGA2	ORPHA:853
HP:0000118	Phenotypic abnormality	135228	CD109	ORPHA:853
HP:0000118	Phenotypic abnormality	3690	ITGB3	ORPHA:853
HP:0000118	Phenotypic abnormality	81555	YIPF5	OMIM:619278
HP:0000118	Phenotypic abnormality	4645	MYO5B	ORPHA:2290
HP:0000118	Phenotypic abnormality	22871	NLGN1	OMIM:618830
HP:0000118	Phenotypic abnormality	1284	COL4A2	OMIM:614483
HP:0000118	Phenotypic abnormality	79650	USB1	ORPHA:1775
HP:0000118	Phenotypic abnormality	55135	WRAP53	ORPHA:1775
HP:0000118	Phenotypic abnormality	4869	NPM1	ORPHA:1775
HP:0000118	Phenotypic abnormality	7298	TYMS	ORPHA:1775
HP:0000118	Phenotypic abnormality	96459	FNIP1	OMIM:619705
HP:0000118	Phenotypic abnormality	7259	TSPYL1	ORPHA:168593
HP:0000118	Phenotypic abnormality	7453	WARS1	OMIM:617721
HP:0000118	Phenotypic abnormality	256472	TMEM151A	OMIM:620245
HP:0000118	Phenotypic abnormality	6515	SLC2A3	ORPHA:399
HP:0000118	Phenotypic abnormality	54982	CLN6	OMIM:204300
HP:0000118	Phenotypic abnormality	1476	CSTB	OMIM:254800
HP:0000118	Phenotypic abnormality	23317	DNAJC13	ORPHA:411602
HP:0000118	Phenotypic abnormality	1981	EIF4G1	ORPHA:411602
HP:0000118	Phenotypic abnormality	55737	VPS35	ORPHA:411602
HP:0000118	Phenotypic abnormality	26058	GIGYF2	ORPHA:411602
HP:0000118	Phenotypic abnormality	10157	AASS	ORPHA:3124
HP:0000118	Phenotypic abnormality	51271	UBAP1	OMIM:618418
HP:0000118	Phenotypic abnormality	9907	AP5Z1	OMIM:613647
HP:0000118	Phenotypic abnormality	84138	SLC7A6OS	OMIM:619191
HP:0000118	Phenotypic abnormality	80067	DCAF17	ORPHA:3464
HP:0000118	Phenotypic abnormality	378884	NHLRC1	ORPHA:501
HP:0000118	Phenotypic abnormality	7957	EPM2A	ORPHA:501
HP:0000118	Phenotypic abnormality	7507	XPA	OMIM:278700
HP:0000118	Phenotypic abnormality	57462	MYORG	OMIM:618317
HP:0000118	Phenotypic abnormality	79641	ROGDI	ORPHA:1946
HP:0000118	Phenotypic abnormality	3075	CFH	OMIM:235400
HP:0000118	Phenotypic abnormality	3078	CFHR1	OMIM:235400
HP:0000118	Phenotypic abnormality	10878	CFHR3	OMIM:235400
HP:0000118	Phenotypic abnormality	29899	GPSM2	OMIM:604213
HP:0000118	Phenotypic abnormality	10054	UBA2	OMIM:619959
HP:0000118	Phenotypic abnormality	4919	ROR1	OMIM:617654
HP:0000118	Phenotypic abnormality	4897	NRCAM	OMIM:619833
HP:0000118	Phenotypic abnormality	7552	ZNF711	OMIM:300803
HP:0000118	Phenotypic abnormality	283489	CHAMP1	OMIM:616579
HP:0000118	Phenotypic abnormality	80155	NAA15	OMIM:617787
HP:0000118	Phenotypic abnormality	1777	DNASE2	OMIM:619858
HP:0000118	Phenotypic abnormality	283987	HID1	OMIM:619983
HP:0000118	Phenotypic abnormality	7386	UQCRFS1	OMIM:618775
HP:0000118	Phenotypic abnormality	26057	ANKRD17	OMIM:619504
HP:0000118	Phenotypic abnormality	3572	IL6ST	OMIM:619751
HP:0000118	Phenotypic abnormality	26038	CHD5	OMIM:619873
HP:0000118	Phenotypic abnormality	57680	CHD8	OMIM:615032
HP:0000118	Phenotypic abnormality	9453	GGPS1	OMIM:619518
HP:0000118	Phenotypic abnormality	9841	ZBTB24	OMIM:614069
HP:0000118	Phenotypic abnormality	51692	CPSF3	OMIM:619876
HP:0000118	Phenotypic abnormality	1615	DARS1	OMIM:615281
HP:0000118	Phenotypic abnormality	51341	ZBTB7A	OMIM:619769
HP:0000118	Phenotypic abnormality	38	ACAT1	ORPHA:134
HP:0000118	Phenotypic abnormality	7143	TNR	OMIM:619653
HP:0000118	Phenotypic abnormality	3978	LIG1	OMIM:619774
HP:0000118	Phenotypic abnormality	54941	RNF125	OMIM:616260
HP:0000118	Phenotypic abnormality	1523	CUX1	OMIM:618330
HP:0000118	Phenotypic abnormality	55151	TMEM38B	OMIM:615066
HP:0000118	Phenotypic abnormality	3479	IGF1	ORPHA:73272
HP:0000118	Phenotypic abnormality	3479	IGF1	OMIM:608747
HP:0000118	Phenotypic abnormality	3912	LAMB1	OMIM:615191
HP:0000118	Phenotypic abnormality	6477	SIAH1	OMIM:619314
HP:0000118	Phenotypic abnormality	7283	TUBG1	ORPHA:261183
HP:0000118	Phenotypic abnormality	81614	NIPA2	ORPHA:261183
HP:0000118	Phenotypic abnormality	7253	TSHR	ORPHA:424
HP:0000118	Phenotypic abnormality	7253	TSHR	OMIM:609152
HP:0000118	Phenotypic abnormality	7253	TSHR	ORPHA:99819
HP:0000118	Phenotypic abnormality	55182	RNF220	OMIM:619688
HP:0000118	Phenotypic abnormality	1363	CPE	OMIM:619326
HP:0000118	Phenotypic abnormality	3767	KCNJ11	ORPHA:99885
HP:0000118	Phenotypic abnormality	6774	STAT3	ORPHA:99885
HP:0000118	Phenotypic abnormality	2645	GCK	ORPHA:99885
HP:0000118	Phenotypic abnormality	3630	INS	ORPHA:99885
HP:0000118	Phenotypic abnormality	1741	DLG3	OMIM:300850
HP:0000118	Phenotypic abnormality	51434	ANAPC7	OMIM:619699
HP:0000118	Phenotypic abnormality	4128	MAOA	OMIM:300615
HP:0000118	Phenotypic abnormality	4647	MYO7A	OMIM:276900
HP:0000118	Phenotypic abnormality	10083	USH1C	OMIM:276900
HP:0000118	Phenotypic abnormality	549	AUH	OMIM:250950
HP:0000118	Phenotypic abnormality	9509	ADAMTS2	OMIM:225410
HP:0000118	Phenotypic abnormality	23594	ORC6	OMIM:613803
HP:0000118	Phenotypic abnormality	84065	TMEM222	OMIM:619470
HP:0000118	Phenotypic abnormality	10771	ZMYND11	OMIM:616083
HP:0000118	Phenotypic abnormality	3839	KPNA3	OMIM:620106
HP:0000118	Phenotypic abnormality	8452	CUL3	OMIM:619239
HP:0000118	Phenotypic abnormality	246329	STAC3	ORPHA:168572
HP:0000118	Phenotypic abnormality	246329	STAC3	OMIM:255995
HP:0000118	Phenotypic abnormality	25839	COG4	OMIM:618150
HP:0000118	Phenotypic abnormality	22978	NT5C2	ORPHA:320396
HP:0000118	Phenotypic abnormality	22978	NT5C2	OMIM:613162
HP:0000118	Phenotypic abnormality	8567	MADD	OMIM:619004
HP:0000118	Phenotypic abnormality	8567	MADD	OMIM:619005
HP:0000118	Phenotypic abnormality	4322	MMP13	OMIM:250400
HP:0000118	Phenotypic abnormality	745	MYRF	OMIM:618280
HP:0000118	Phenotypic abnormality	11014	KDELR2	OMIM:619131
HP:0000118	Phenotypic abnormality	5236	PGM1	OMIM:614921
HP:0000118	Phenotypic abnormality	51082	POLR1D	OMIM:613717
HP:0000118	Phenotypic abnormality	10079	ATP9A	OMIM:620242
HP:0000118	Phenotypic abnormality	124093	CCDC78	OMIM:614807
HP:0000118	Phenotypic abnormality	27161	AGO2	OMIM:619149
HP:0000118	Phenotypic abnormality	27183	VPS4A	OMIM:619273
HP:0000118	Phenotypic abnormality	27178	IL37	OMIM:619398
HP:0000118	Phenotypic abnormality	9640	ZNF592	ORPHA:83472
HP:0000118	Phenotypic abnormality	5689	PSMB1	OMIM:620038
HP:0000118	Phenotypic abnormality	7125	TNNC2	OMIM:620161
HP:0000118	Phenotypic abnormality	56984	PSMG2	OMIM:619183
HP:0000118	Phenotypic abnormality	3070	HELLS	OMIM:616911
HP:0000118	Phenotypic abnormality	121512	FGD4	OMIM:609311
HP:0000118	Phenotypic abnormality	11340	EXOSC8	ORPHA:2254
HP:0000118	Phenotypic abnormality	7443	VRK1	ORPHA:2254
HP:0000118	Phenotypic abnormality	7443	VRK1	OMIM:607596
HP:0000118	Phenotypic abnormality	10518	CIB2	OMIM:614869
HP:0000118	Phenotypic abnormality	64837	KLC2	OMIM:609541
HP:0000118	Phenotypic abnormality	5165	PDK3	ORPHA:352675
HP:0000118	Phenotypic abnormality	10430	TMEM147	OMIM:620075
HP:0000118	Phenotypic abnormality	84978	FRMD5	OMIM:620094
HP:0000118	Phenotypic abnormality	4208	MEF2C	OMIM:613443
HP:0000118	Phenotypic abnormality	51053	GMNN	OMIM:616835
HP:0000118	Phenotypic abnormality	579	NKX3-2	OMIM:613330
HP:0000118	Phenotypic abnormality	11133	KPTN	OMIM:615637
HP:0000118	Phenotypic abnormality	3176	HNMT	OMIM:616739
HP:0000118	Phenotypic abnormality	55603	TENT5A	OMIM:617952
HP:0000118	Phenotypic abnormality	54974	THG1L	OMIM:618800
HP:0000118	Phenotypic abnormality	84693	MCEE	OMIM:251120
HP:0000118	Phenotypic abnormality	23395	LARS2	OMIM:615300
HP:0000118	Phenotypic abnormality	11280	SCN11A	OMIM:615548
HP:0000118	Phenotypic abnormality	65217	PCDH15	OMIM:602083
HP:0000118	Phenotypic abnormality	2584	GALK1	ORPHA:79237
HP:0000118	Phenotypic abnormality	2588	GALNS	OMIM:253000
HP:0000118	Phenotypic abnormality	6697	SPR	ORPHA:70594
HP:0000118	Phenotypic abnormality	23209	MLC1	OMIM:604004
HP:0000118	Phenotypic abnormality	2890	GRIA1	OMIM:619927
HP:0000118	Phenotypic abnormality	374462	PTPRQ	OMIM:613391
HP:0000118	Phenotypic abnormality	9320	TRIP12	OMIM:617752
HP:0000118	Phenotypic abnormality	5718	PSMD12	OMIM:617516
HP:0000118	Phenotypic abnormality	166929	SGMS2	OMIM:126550
HP:0000118	Phenotypic abnormality	51733	UPB1	OMIM:613161
HP:0000118	Phenotypic abnormality	9181	ARHGEF2	OMIM:617523
HP:0000118	Phenotypic abnormality	7252	TSHB	OMIM:275100
HP:0000118	Phenotypic abnormality	7384	UQCRC1	OMIM:619279
HP:0000118	Phenotypic abnormality	5702	PSMC3	OMIM:619354
HP:0000118	Phenotypic abnormality	2517	FUCA1	OMIM:230000
HP:0000118	Phenotypic abnormality	22934	RPIA	OMIM:608611
HP:0000118	Phenotypic abnormality	2729	GCLC	OMIM:230450
HP:0000118	Phenotypic abnormality	23204	ARL6IP1	ORPHA:401780
HP:0000118	Phenotypic abnormality	210	ALAD	ORPHA:100924
HP:0000118	Phenotypic abnormality	3117	HLA-DQA1	OMIM:212750
HP:0000118	Phenotypic abnormality	10801	SEPTIN9	ORPHA:2901
HP:0000118	Phenotypic abnormality	51399	TRAPPC4	OMIM:618741
HP:0000118	Phenotypic abnormality	23446	SLC44A1	OMIM:618868
HP:0000118	Phenotypic abnormality	10159	ATP6AP2	ORPHA:93952
HP:0000118	Phenotypic abnormality	10159	ATP6AP2	OMIM:300423
HP:0000118	Phenotypic abnormality	10501	SEMA6B	OMIM:618876
HP:0000118	Phenotypic abnormality	146057	TTBK2	OMIM:604432
HP:0000118	Phenotypic abnormality	219285	SAMD9L	OMIM:159550
HP:0000118	Phenotypic abnormality	219285	SAMD9L	ORPHA:2585
HP:0000118	Phenotypic abnormality	219285	SAMD9L	OMIM:619806
HP:0000118	Phenotypic abnormality	535	ATP6V0A1	OMIM:619971
HP:0000118	Phenotypic abnormality	7343	UBTF	OMIM:617672
HP:0000118	Phenotypic abnormality	8560	DEGS1	OMIM:618404
HP:0000118	Phenotypic abnormality	343641	TGM6	ORPHA:276193
HP:0000118	Phenotypic abnormality	343641	TGM6	OMIM:613908
HP:0000118	Phenotypic abnormality	10715	CERS1	OMIM:616230
HP:0000118	Phenotypic abnormality	2744	GLS	OMIM:618412
HP:0000118	Phenotypic abnormality	51761	ATP8A2	OMIM:615268
HP:0000118	Phenotypic abnormality	54840	APTX	OMIM:208920
HP:0000118	Phenotypic abnormality	950	SCARB2	OMIM:254900
HP:0000118	Phenotypic abnormality	55621	TRMT1	OMIM:618302
HP:0000118	Phenotypic abnormality	54902	TTC19	OMIM:615157
HP:0000118	Phenotypic abnormality	285362	SUMF1	OMIM:272200
HP:0000118	Phenotypic abnormality	10531	PITRM1	OMIM:619405
HP:0000118	Phenotypic abnormality	256471	MFSD8	OMIM:610951
HP:0000118	Phenotypic abnormality	23162	MAPK8IP3	OMIM:618443
HP:0000118	Phenotypic abnormality	197258	FCSK	OMIM:618324
HP:0000118	Phenotypic abnormality	29960	MRM2	OMIM:618567
HP:0000118	Phenotypic abnormality	2055	CLN8	ORPHA:1947
HP:0000118	Phenotypic abnormality	2055	CLN8	OMIM:600143
HP:0000118	Phenotypic abnormality	2055	CLN8	OMIM:610003
HP:0000118	Phenotypic abnormality	58497	PRUNE1	OMIM:617481
HP:0000118	Phenotypic abnormality	58497	PRUNE1	ORPHA:544469
HP:0000118	Phenotypic abnormality	5111	PCNA	ORPHA:438134
HP:0000118	Phenotypic abnormality	5111	PCNA	OMIM:615919
HP:0000118	Phenotypic abnormality	10466	COG5	ORPHA:263487
HP:0000118	Phenotypic abnormality	10466	COG5	OMIM:613612
HP:0000118	Phenotypic abnormality	51728	POLR3K	OMIM:619310
HP:0000118	Phenotypic abnormality	128869	PIGU	OMIM:618590
HP:0000118	Phenotypic abnormality	6548	SLC9A1	OMIM:616291
HP:0000118	Phenotypic abnormality	23102	TBC1D2B	OMIM:619323
HP:0000118	Phenotypic abnormality	154881	KCTD7	OMIM:611726
HP:0000118	Phenotypic abnormality	154881	KCTD7	ORPHA:263516
HP:0000118	Phenotypic abnormality	79944	L2HGDH	OMIM:236792
HP:0000118	Phenotypic abnormality	5934	RBL2	OMIM:619690
HP:0000118	Phenotypic abnormality	25929	GEMIN5	OMIM:619333
HP:0000118	Phenotypic abnormality	3746	KCNC1	OMIM:616187
HP:0000118	Phenotypic abnormality	1201	CLN3	ORPHA:228346
HP:0000118	Phenotypic abnormality	5611	DNAJC3	OMIM:616192
HP:0000118	Phenotypic abnormality	5611	DNAJC3	ORPHA:445062
HP:0000118	Phenotypic abnormality	23287	AGTPBP1	OMIM:618276
HP:0000118	Phenotypic abnormality	79644	SRD5A3	ORPHA:324737
HP:0000118	Phenotypic abnormality	64858	DCLRE1B	OMIM:620133
HP:0000118	Phenotypic abnormality	9442	MED27	OMIM:619286
HP:0000118	Phenotypic abnormality	54476	RNF216	OMIM:212840
HP:0000118	Phenotypic abnormality	4884	NPTX1	OMIM:620158
HP:0000118	Phenotypic abnormality	5173	PDYN	OMIM:610245
HP:0000118	Phenotypic abnormality	80856	LNPK	OMIM:618090
HP:0000118	Phenotypic abnormality	26090	ABHD12	OMIM:612674
HP:0000118	Phenotypic abnormality	3475	IFRD1	ORPHA:98771
HP:0000118	Phenotypic abnormality	83475	DOHH	OMIM:620066
HP:0000118	Phenotypic abnormality	255928	SYT14	ORPHA:284271
HP:0000118	Phenotypic abnormality	255928	SYT14	OMIM:614229
HP:0000118	Phenotypic abnormality	1384	CRAT	OMIM:617917
HP:0000118	Phenotypic abnormality	200403	VWA3B	OMIM:616948
HP:0000118	Phenotypic abnormality	6314	ATXN7	ORPHA:94147
HP:0000118	Phenotypic abnormality	339453	TMEM240	OMIM:607454
HP:0000118	Phenotypic abnormality	124997	WDR81	OMIM:610185
HP:0000118	Phenotypic abnormality	57505	AARS2	OMIM:615889
HP:0000118	Phenotypic abnormality	50	ACO2	OMIM:614559
HP:0000118	Phenotypic abnormality	2891	GRIA2	OMIM:618917
HP:0000118	Phenotypic abnormality	122553	TRAPPC6B	OMIM:617862
HP:0000118	Phenotypic abnormality	7222	TRPC3	OMIM:616410
HP:0000118	Phenotypic abnormality	6785	ELOVL4	OMIM:133190
HP:0000118	Phenotypic abnormality	9197	SLC33A1	OMIM:614482
HP:0000118	Phenotypic abnormality	79587	CARS2	OMIM:616672
HP:0000118	Phenotypic abnormality	2196	FAT2	OMIM:617769
HP:0000118	Phenotypic abnormality	267010	RNU12	ORPHA:512260
HP:0000118	Phenotypic abnormality	3476	IGBP1	OMIM:300472
HP:0000118	Phenotypic abnormality	3476	IGBP1	ORPHA:52055
HP:0000118	Phenotypic abnormality	5361	PLXNA1	OMIM:619955
HP:0000118	Phenotypic abnormality	4774	NFIA	OMIM:613735
HP:0000118	Phenotypic abnormality	2018	EMX2	OMIM:269160
HP:0000118	Phenotypic abnormality	6597	SMARCA4	OMIM:614609
HP:0000118	Phenotypic abnormality	6597	SMARCA4	ORPHA:1465
HP:0000118	Phenotypic abnormality	6602	SMARCD1	OMIM:618779
HP:0000118	Phenotypic abnormality	6602	SMARCD1	ORPHA:1465
HP:0000118	Phenotypic abnormality	55623	THUMPD1	OMIM:619989
HP:0000118	Phenotypic abnormality	129563	DIS3L2	OMIM:267000
HP:0000118	Phenotypic abnormality	1349	COX7B	OMIM:309801
HP:0000118	Phenotypic abnormality	1349	COX7B	OMIM:300887
HP:0000118	Phenotypic abnormality	1349	COX7B	ORPHA:2556
HP:0000118	Phenotypic abnormality	3052	HCCS	OMIM:309801
HP:0000118	Phenotypic abnormality	3052	HCCS	ORPHA:2556
HP:0000118	Phenotypic abnormality	4036	LRP2	OMIM:222448
HP:0000118	Phenotypic abnormality	3170	FOXA2	ORPHA:95494
HP:0000118	Phenotypic abnormality	11041	B4GAT1	OMIM:615287
HP:0000118	Phenotypic abnormality	11041	B4GAT1	ORPHA:899
HP:0000118	Phenotypic abnormality	113179	ADAT3	OMIM:615286
HP:0000118	Phenotypic abnormality	113179	ADAT3	ORPHA:363528
HP:0000118	Phenotypic abnormality	57492	ARID1B	ORPHA:251056
HP:0000118	Phenotypic abnormality	57492	ARID1B	ORPHA:1465
HP:0000118	Phenotypic abnormality	2678	GGT1	OMIM:231950
HP:0000118	Phenotypic abnormality	11023	VAX1	OMIM:614402
HP:0000118	Phenotypic abnormality	5881	RAC3	OMIM:618577
HP:0000118	Phenotypic abnormality	164	AP1G1	OMIM:619548
HP:0000118	Phenotypic abnormality	1801	DPH1	ORPHA:459061
HP:0000118	Phenotypic abnormality	51807	TUBA8	ORPHA:250972
HP:0000118	Phenotypic abnormality	340419	RSPO2	ORPHA:3301
HP:0000118	Phenotypic abnormality	3313	HSPA9	OMIM:616854
HP:0000118	Phenotypic abnormality	27185	DISC1	ORPHA:171703
HP:0000118	Phenotypic abnormality	8320	EOMES	ORPHA:171703
HP:0000118	Phenotypic abnormality	55997	CFC1	OMIM:605376
HP:0000118	Phenotypic abnormality	10329	RXYLT1	ORPHA:899
HP:0000118	Phenotypic abnormality	6601	SMARCC2	ORPHA:1465
HP:0000118	Phenotypic abnormality	6664	SOX11	ORPHA:1465
HP:0000118	Phenotypic abnormality	5831	PYCR1	OMIM:612940
HP:0000118	Phenotypic abnormality	1063	CENPF	OMIM:243605
HP:0000118	Phenotypic abnormality	51608	GET4	OMIM:620200
HP:0000118	Phenotypic abnormality	1000	CDH2	OMIM:618929
HP:0000118	Phenotypic abnormality	7161	TP73	OMIM:619466
HP:0000118	Phenotypic abnormality	2009	EML1	OMIM:600348
HP:0000118	Phenotypic abnormality	55640	FLVCR2	OMIM:225790
HP:0000118	Phenotypic abnormality	91875	TTC5	OMIM:619244
HP:0000118	Phenotypic abnormality	118924	FRA10AC1	OMIM:620113
HP:0000118	Phenotypic abnormality	4781	NFIB	OMIM:618286
HP:0000118	Phenotypic abnormality	9276	COPB2	ORPHA:2512
HP:0000118	Phenotypic abnormality	22995	CEP152	ORPHA:2512
HP:0000118	Phenotypic abnormality	55262	TRAPPC14	ORPHA:2512
HP:0000118	Phenotypic abnormality	4176	MCM7	ORPHA:2512
HP:0000118	Phenotypic abnormality	80254	CEP63	ORPHA:2512
HP:0000118	Phenotypic abnormality	23310	NCAPD3	ORPHA:2512
HP:0000118	Phenotypic abnormality	1911	PHC1	ORPHA:2512
HP:0000118	Phenotypic abnormality	6884	TAF13	ORPHA:2512
HP:0000118	Phenotypic abnormality	9662	CEP135	ORPHA:2512
HP:0000118	Phenotypic abnormality	57082	KNL1	ORPHA:2512
HP:0000118	Phenotypic abnormality	1021	CDK6	ORPHA:2512
HP:0000118	Phenotypic abnormality	6658	SOX3	ORPHA:3157
HP:0000118	Phenotypic abnormality	9915	ARNT2	ORPHA:3157
HP:0000118	Phenotypic abnormality	11113	CIT	OMIM:617090
HP:0000118	Phenotypic abnormality	3763	KCNJ6	ORPHA:435628
HP:0000118	Phenotypic abnormality	3763	KCNJ6	OMIM:614098
HP:0000118	Phenotypic abnormality	6535	SLC6A8	OMIM:300352
HP:0000118	Phenotypic abnormality	6535	SLC6A8	ORPHA:52503
HP:0000118	Phenotypic abnormality	5723	PSPH	OMIM:614023
HP:0000118	Phenotypic abnormality	5723	PSPH	ORPHA:79350
HP:0000118	Phenotypic abnormality	1119	CHKA	OMIM:620023
HP:0000118	Phenotypic abnormality	8496	PPFIBP1	OMIM:620024
HP:0000118	Phenotypic abnormality	57176	VARS2	OMIM:615917
HP:0000118	Phenotypic abnormality	166378	AFG2A	OMIM:616577
HP:0000118	Phenotypic abnormality	271	AMPD2	OMIM:615809
HP:0000118	Phenotypic abnormality	271	AMPD2	ORPHA:401805
HP:0000118	Phenotypic abnormality	271	AMPD2	OMIM:615686
HP:0000118	Phenotypic abnormality	284403	WDR62	OMIM:604317
HP:0000118	Phenotypic abnormality	340024	SLC6A19	OMIM:234500
HP:0000118	Phenotypic abnormality	114034	TOE1	OMIM:614969
HP:0000118	Phenotypic abnormality	114034	TOE1	ORPHA:284339
HP:0000118	Phenotypic abnormality	22872	SEC31A	OMIM:618651
HP:0000118	Phenotypic abnormality	23036	ZNF292	OMIM:619188
HP:0000118	Phenotypic abnormality	9152	SLC6A5	OMIM:614618
HP:0000118	Phenotypic abnormality	9152	SLC6A5	ORPHA:3197
HP:0000118	Phenotypic abnormality	2743	GLRB	OMIM:614619
HP:0000118	Phenotypic abnormality	2743	GLRB	ORPHA:3197
HP:0000118	Phenotypic abnormality	1267	CNP	OMIM:619071
HP:0000118	Phenotypic abnormality	55719	SLF2	OMIM:620184
HP:0000118	Phenotypic abnormality	3800	KIF5C	OMIM:615282
HP:0000118	Phenotypic abnormality	4285	MIPEP	OMIM:617228
HP:0000118	Phenotypic abnormality	9440	MED17	OMIM:613668
HP:0000118	Phenotypic abnormality	55164	SHQ1	ORPHA:256
HP:0000118	Phenotypic abnormality	26277	TINF2	ORPHA:3322
HP:0000118	Phenotypic abnormality	26277	TINF2	OMIM:268130
HP:0000118	Phenotypic abnormality	1736	DKC1	ORPHA:3322
HP:0000118	Phenotypic abnormality	9526	MPDU1	ORPHA:79323
HP:0000118	Phenotypic abnormality	9526	MPDU1	OMIM:609180
HP:0000118	Phenotypic abnormality	84894	LINGO1	OMIM:618103
HP:0000118	Phenotypic abnormality	30000	TNPO2	OMIM:619556
HP:0000118	Phenotypic abnormality	3786	KCNQ3	ORPHA:306
HP:0000118	Phenotypic abnormality	2073	ERCC5	ORPHA:1466
HP:0000118	Phenotypic abnormality	23229	ARHGEF9	ORPHA:163985
HP:0000118	Phenotypic abnormality	23229	ARHGEF9	OMIM:300607
HP:0000118	Phenotypic abnormality	2138	EYA1	ORPHA:2792
HP:0000118	Phenotypic abnormality	2741	GLRA1	ORPHA:3197
HP:0000118	Phenotypic abnormality	2741	GLRA1	OMIM:149400
HP:0000118	Phenotypic abnormality	220296	HEPACAM	OMIM:613925
HP:0000118	Phenotypic abnormality	5873	RAB27A	ORPHA:79477
HP:0000118	Phenotypic abnormality	23476	BRD4	ORPHA:199
HP:0000118	Phenotypic abnormality	1718	DHCR24	ORPHA:35107
HP:0000118	Phenotypic abnormality	440138	ALG11	ORPHA:280071
HP:0000118	Phenotypic abnormality	2893	GRIA4	OMIM:617864
HP:0000118	Phenotypic abnormality	3832	KIF11	ORPHA:2526
HP:0000118	Phenotypic abnormality	4190	MDH1	OMIM:618959
HP:0000118	Phenotypic abnormality	3739	KCNA4	OMIM:618284
HP:0000118	Phenotypic abnormality	85378	TUBGCP6	ORPHA:2518
HP:0000118	Phenotypic abnormality	27229	TUBGCP4	ORPHA:2518
HP:0000118	Phenotypic abnormality	10733	PLK4	ORPHA:2518
HP:0000118	Phenotypic abnormality	23529	CLCF1	ORPHA:1545
HP:0000118	Phenotypic abnormality	9562	MINPP1	ORPHA:284339
HP:0000118	Phenotypic abnormality	1496	CTNNA2	OMIM:618174
HP:0000118	Phenotypic abnormality	1534	CYB561	OMIM:618182
HP:0000118	Phenotypic abnormality	1136	CHRNA3	OMIM:191800
HP:0000118	Phenotypic abnormality	8086	AAAS	OMIM:231550
HP:0000118	Phenotypic abnormality	3594	IL12RB1	ORPHA:186
HP:0000118	Phenotypic abnormality	3592	IL12A	ORPHA:186
HP:0000118	Phenotypic abnormality	6689	SPIB	ORPHA:186
HP:0000118	Phenotypic abnormality	5450	POU2AF1	ORPHA:186
HP:0000118	Phenotypic abnormality	9966	TNFSF15	ORPHA:186
HP:0000118	Phenotypic abnormality	79258	MMEL1	ORPHA:186
HP:0000118	Phenotypic abnormality	51142	CHCHD2	OMIM:616710
HP:0000118	Phenotypic abnormality	253017	TECRL	OMIM:614021
HP:0000118	Phenotypic abnormality	253017	TECRL	ORPHA:3286
HP:0000118	Phenotypic abnormality	10021	HCN4	OMIM:163800
HP:0000118	Phenotypic abnormality	10021	HCN4	ORPHA:130
HP:0000118	Phenotypic abnormality	3728	JUP	OMIM:601214
HP:0000118	Phenotypic abnormality	3728	JUP	OMIM:611528
HP:0000118	Phenotypic abnormality	1824	DSC2	OMIM:610476
HP:0000118	Phenotypic abnormality	54795	TRPM4	OMIM:604559
HP:0000118	Phenotypic abnormality	54795	TRPM4	ORPHA:871
HP:0000118	Phenotypic abnormality	54795	TRPM4	ORPHA:130
HP:0000118	Phenotypic abnormality	79572	ATP13A3	OMIM:265400
HP:0000118	Phenotypic abnormality	5318	PKP2	OMIM:609040
HP:0000118	Phenotypic abnormality	5318	PKP2	ORPHA:130
HP:0000118	Phenotypic abnormality	7134	TNNC1	OMIM:613243
HP:0000118	Phenotypic abnormality	6508	SLC4A3	ORPHA:51083
HP:0000118	Phenotypic abnormality	6508	SLC4A3	OMIM:620231
HP:0000118	Phenotypic abnormality	51422	PRKAG2	OMIM:600858
HP:0000118	Phenotypic abnormality	51422	PRKAG2	OMIM:194200
HP:0000118	Phenotypic abnormality	783	CACNB2	OMIM:611876
HP:0000118	Phenotypic abnormality	783	CACNB2	ORPHA:130
HP:0000118	Phenotypic abnormality	6262	RYR2	OMIM:604772
HP:0000118	Phenotypic abnormality	6262	RYR2	ORPHA:3286
HP:0000118	Phenotypic abnormality	845	CASQ2	OMIM:604772
HP:0000118	Phenotypic abnormality	845	CASQ2	ORPHA:3286
HP:0000118	Phenotypic abnormality	845	CASQ2	OMIM:611938
HP:0000118	Phenotypic abnormality	3764	KCNJ8	ORPHA:130
HP:0000118	Phenotypic abnormality	7871	SLMAP	ORPHA:130
HP:0000118	Phenotypic abnormality	29098	RANGRF	ORPHA:130
HP:0000118	Phenotypic abnormality	55800	SCN3B	ORPHA:130
HP:0000118	Phenotypic abnormality	6327	SCN2B	ORPHA:130
HP:0000118	Phenotypic abnormality	23171	GPD1L	ORPHA:130
HP:0000118	Phenotypic abnormality	23171	GPD1L	OMIM:611777
HP:0000118	Phenotypic abnormality	51778	MYOZ2	OMIM:613838
HP:0000118	Phenotypic abnormality	6927	HNF1A	ORPHA:324575
HP:0000118	Phenotypic abnormality	776	CACNA1D	OMIM:614896
HP:0000118	Phenotypic abnormality	144245	ALG10B	OMIM:613688
HP:0000118	Phenotypic abnormality	7351	UCP2	ORPHA:276556
HP:0000118	Phenotypic abnormality	140803	TRPM6	OMIM:602014
HP:0000118	Phenotypic abnormality	6557	SLC12A1	OMIM:601678
HP:0000118	Phenotypic abnormality	3758	KCNJ1	OMIM:241200
HP:0000118	Phenotypic abnormality	5741	PTH	OMIM:146200
HP:0000118	Phenotypic abnormality	10686	CLDN16	OMIM:248250
HP:0000118	Phenotypic abnormality	6559	SLC12A3	OMIM:263800
HP:0000118	Phenotypic abnormality	58528	RRAGD	OMIM:620152
HP:0000118	Phenotypic abnormality	54822	TRPM7	OMIM:105500
HP:0000118	Phenotypic abnormality	23321	TRIM2	OMIM:615490
HP:0000118	Phenotypic abnormality	311	ANXA11	OMIM:619733
HP:0000118	Phenotypic abnormality	57863	CADM3	OMIM:619519
HP:0000118	Phenotypic abnormality	10613	ERLIN1	ORPHA:401785
HP:0000118	Phenotypic abnormality	4311	MME	ORPHA:497764
HP:0000118	Phenotypic abnormality	4311	MME	OMIM:617017
HP:0000118	Phenotypic abnormality	84570	COL25A1	ORPHA:1143
HP:0000118	Phenotypic abnormality	57222	ERGIC1	ORPHA:1143
HP:0000118	Phenotypic abnormality	1337	COX6A1	OMIM:616039
HP:0000118	Phenotypic abnormality	23590	PDSS1	OMIM:614651
HP:0000118	Phenotypic abnormality	112	ADCY6	OMIM:616287
HP:0000118	Phenotypic abnormality	340075	ARSI	ORPHA:401815
HP:0000118	Phenotypic abnormality	4576	MT-TT	ORPHA:254857
HP:0000118	Phenotypic abnormality	283446	MYO1H	OMIM:619482
HP:0000118	Phenotypic abnormality	51099	ABHD5	ORPHA:98907
HP:0000118	Phenotypic abnormality	129285	PPP1R21	OMIM:619383
HP:0000118	Phenotypic abnormality	60558	GUF1	OMIM:617065
HP:0000118	Phenotypic abnormality	2937	GSS	OMIM:266130
HP:0000118	Phenotypic abnormality	64170	CARD9	OMIM:212050
HP:0000118	Phenotypic abnormality	596	BCL2	ORPHA:545
HP:0000118	Phenotypic abnormality	3492	IGH	ORPHA:545
HP:0000118	Phenotypic abnormality	604	BCL6	ORPHA:545
HP:0000118	Phenotypic abnormality	58484	NLRC4	OMIM:616050
HP:0000118	Phenotypic abnormality	3718	JAK3	OMIM:600802
HP:0000118	Phenotypic abnormality	629	CFB	OMIM:615561
HP:0000118	Phenotypic abnormality	732	C8B	OMIM:613789
HP:0000118	Phenotypic abnormality	23495	TNFRSF13B	OMIM:240500
HP:0000118	Phenotypic abnormality	115650	TNFRSF13C	OMIM:240500
HP:0000118	Phenotypic abnormality	1380	CR2	OMIM:240500
HP:0000118	Phenotypic abnormality	29851	ICOS	OMIM:240500
HP:0000118	Phenotypic abnormality	930	CD19	OMIM:240500
HP:0000118	Phenotypic abnormality	731	C8A	OMIM:613790
HP:0000118	Phenotypic abnormality	721	C4B	OMIM:614379
HP:0000118	Phenotypic abnormality	767	CA8	ORPHA:1766
HP:0000118	Phenotypic abnormality	57589	RIC1	OMIM:618761
HP:0000118	Phenotypic abnormality	7471	WNT1	ORPHA:85193
HP:0000118	Phenotypic abnormality	89780	WNT3A	ORPHA:85193
HP:0000118	Phenotypic abnormality	472	ATM	ORPHA:100
HP:0000118	Phenotypic abnormality	9338	TCEAL1	OMIM:301094
HP:0000118	Phenotypic abnormality	26173	INTS1	OMIM:618571
HP:0000118	Phenotypic abnormality	165918	RNF168	ORPHA:420741
HP:0000118	Phenotypic abnormality	10371	SEMA3A	ORPHA:478
HP:0000118	Phenotypic abnormality	23767	FLRT3	ORPHA:478
HP:0000118	Phenotypic abnormality	79625	NDNF	ORPHA:478
HP:0000118	Phenotypic abnormality	389549	FEZF1	ORPHA:478
HP:0000118	Phenotypic abnormality	54756	IL17RD	ORPHA:478
HP:0000118	Phenotypic abnormality	285025	CCDC141	ORPHA:478
HP:0000118	Phenotypic abnormality	23259	DDHD2	ORPHA:320380
HP:0000118	Phenotypic abnormality	80217	CFAP43	OMIM:236690
HP:0000118	Phenotypic abnormality	60681	FKBP10	ORPHA:1149
HP:0000118	Phenotypic abnormality	3720	JARID2	OMIM:620098
HP:0000118	Phenotypic abnormality	4148	MATN3	ORPHA:93311
HP:0000118	Phenotypic abnormality	953	ENTPD1	ORPHA:401810
HP:0000118	Phenotypic abnormality	953	ENTPD1	OMIM:615683
HP:0000118	Phenotypic abnormality	22948	CCT5	ORPHA:139578
HP:0000118	Phenotypic abnormality	7388	UQCRH	OMIM:620137
HP:0000118	Phenotypic abnormality	104	ADARB1	OMIM:618862
HP:0000118	Phenotypic abnormality	50651	SLC45A1	OMIM:617532
HP:0000118	Phenotypic abnormality	51569	UFM1	OMIM:617899
HP:0000118	Phenotypic abnormality	1024	CDK8	OMIM:618748
HP:0000118	Phenotypic abnormality	6659	SOX4	OMIM:618506
HP:0000118	Phenotypic abnormality	6228	RPS23	OMIM:617412
HP:0000118	Phenotypic abnormality	9254	CACNA2D2	OMIM:618501
HP:0000118	Phenotypic abnormality	23417	MLYCD	OMIM:248360
HP:0000118	Phenotypic abnormality	2720	GLB1	OMIM:230600
HP:0000118	Phenotypic abnormality	64220	STRA6	OMIM:601186
HP:0000118	Phenotypic abnormality	116931	MED12L	OMIM:618872
HP:0000118	Phenotypic abnormality	120227	CYP2R1	OMIM:600081
HP:0000118	Phenotypic abnormality	120227	CYP2R1	ORPHA:289157
HP:0000118	Phenotypic abnormality	55687	TRMU	OMIM:613070
HP:0000118	Phenotypic abnormality	55687	TRMU	ORPHA:254864
HP:0000118	Phenotypic abnormality	2590	GALNT2	OMIM:618885
HP:0000118	Phenotypic abnormality	4330	MN1	OMIM:618774
HP:0000118	Phenotypic abnormality	1594	CYP27B1	OMIM:264700
HP:0000118	Phenotypic abnormality	1594	CYP27B1	ORPHA:289157
HP:0000118	Phenotypic abnormality	39	ACAT2	OMIM:614055
HP:0000118	Phenotypic abnormality	339983	NAT8L	OMIM:614063
HP:0000118	Phenotypic abnormality	29081	METTL5	OMIM:618665
HP:0000118	Phenotypic abnormality	51604	PIGT	OMIM:615398
HP:0000118	Phenotypic abnormality	55773	TBC1D23	OMIM:617695
HP:0000118	Phenotypic abnormality	8558	CDK10	OMIM:617694
HP:0000118	Phenotypic abnormality	8021	NUP214	OMIM:618426
HP:0000118	Phenotypic abnormality	166785	MMAA	OMIM:251100
HP:0000118	Phenotypic abnormality	8733	GPAA1	ORPHA:529665
HP:0000118	Phenotypic abnormality	7358	UGDH	OMIM:618792
HP:0000118	Phenotypic abnormality	59336	PRDM13	OMIM:619761
HP:0000118	Phenotypic abnormality	200424	TET3	OMIM:618798
HP:0000118	Phenotypic abnormality	9772	TMEM94	OMIM:618316
HP:0000118	Phenotypic abnormality	51567	TDP2	ORPHA:404493
HP:0000118	Phenotypic abnormality	51567	TDP2	OMIM:616949
HP:0000118	Phenotypic abnormality	4351	MPI	OMIM:602579
HP:0000118	Phenotypic abnormality	3835	KIF22	OMIM:603546
HP:0000118	Phenotypic abnormality	9922	IQSEC1	OMIM:618687
HP:0000118	Phenotypic abnormality	57192	MCOLN1	OMIM:252650
HP:0000118	Phenotypic abnormality	1967	EIF2B1	OMIM:603896
HP:0000118	Phenotypic abnormality	5587	PRKD1	OMIM:617364
HP:0000118	Phenotypic abnormality	5081	PAX7	OMIM:618578
HP:0000118	Phenotypic abnormality	10564	ARFGEF2	OMIM:608097
HP:0000118	Phenotypic abnormality	56521	DNAJC12	OMIM:617384
HP:0000118	Phenotypic abnormality	57520	HECW2	OMIM:617268
HP:0000118	Phenotypic abnormality	1654	DDX3X	ORPHA:457260
HP:0000118	Phenotypic abnormality	3192	HNRNPU	OMIM:617391
HP:0000118	Phenotypic abnormality	4125	MAN2B1	OMIM:248500
HP:0000118	Phenotypic abnormality	2019	EN1	OMIM:619218
HP:0000118	Phenotypic abnormality	4864	NPC1	OMIM:257220
HP:0000118	Phenotypic abnormality	6821	SUOX	OMIM:272300
HP:0000118	Phenotypic abnormality	1781	DYNC1I2	OMIM:618492
HP:0000118	Phenotypic abnormality	26276	VPS33B	OMIM:208085
HP:0000118	Phenotypic abnormality	63931	MRPS14	OMIM:618378
HP:0000118	Phenotypic abnormality	54681	P4HTM	OMIM:618493
HP:0000118	Phenotypic abnormality	4126	MANBA	OMIM:248510
HP:0000118	Phenotypic abnormality	4548	MTR	OMIM:250940
HP:0000118	Phenotypic abnormality	139411	PTCHD1	OMIM:300830
HP:0000118	Phenotypic abnormality	348180	CTU2	OMIM:618142
HP:0000118	Phenotypic abnormality	31	ACACA	OMIM:613933
HP:0000118	Phenotypic abnormality	10651	MTX2	OMIM:619127
HP:0000118	Phenotypic abnormality	22983	MAST1	OMIM:618273
HP:0000118	Phenotypic abnormality	79143	MBOAT7	OMIM:617188
HP:0000118	Phenotypic abnormality	5625	PRODH	OMIM:239500
HP:0000118	Phenotypic abnormality	201595	STT3B	ORPHA:370924
HP:0000118	Phenotypic abnormality	1650	DDOST	ORPHA:300536
HP:0000118	Phenotypic abnormality	6748	SSR4	ORPHA:370927
HP:0000118	Phenotypic abnormality	6748	SSR4	OMIM:300934
HP:0000118	Phenotypic abnormality	9895	TECPR2	ORPHA:320385
HP:0000118	Phenotypic abnormality	54187	NANS	OMIM:610442
HP:0000118	Phenotypic abnormality	871	SERPINH1	OMIM:613848
HP:0000118	Phenotypic abnormality	6095	RORA	OMIM:618060
HP:0000118	Phenotypic abnormality	158	ADSL	OMIM:103050
HP:0000118	Phenotypic abnormality	158	ADSL	ORPHA:46
HP:0000118	Phenotypic abnormality	1183	CLCN4	OMIM:300114
HP:0000118	Phenotypic abnormality	10046	MAMLD1	ORPHA:456328
HP:0000118	Phenotypic abnormality	2904	GRIN2B	OMIM:613970
HP:0000118	Phenotypic abnormality	4758	NEU1	OMIM:256550
HP:0000118	Phenotypic abnormality	8443	GNPAT	OMIM:222765
HP:0000118	Phenotypic abnormality	6341	SCO1	OMIM:619048
HP:0000118	Phenotypic abnormality	55788	LMBRD1	OMIM:277380
HP:0000118	Phenotypic abnormality	3141	HLCS	OMIM:253270
HP:0000118	Phenotypic abnormality	3766	KCNJ10	OMIM:612780
HP:0000118	Phenotypic abnormality	9739	SETD1A	OMIM:619056
HP:0000118	Phenotypic abnormality	966	CD59	OMIM:612300
HP:0000118	Phenotypic abnormality	5015	OTX2	OMIM:610125
HP:0000118	Phenotypic abnormality	64087	MCCC2	OMIM:210210
HP:0000118	Phenotypic abnormality	1339	COX6A2	OMIM:619062
HP:0000118	Phenotypic abnormality	56922	MCCC1	OMIM:210200
HP:0000118	Phenotypic abnormality	113235	SLC46A1	OMIM:229050
HP:0000118	Phenotypic abnormality	63894	VIPAS39	OMIM:613404
HP:0000118	Phenotypic abnormality	2615	LRRC32	OMIM:619074
HP:0000118	Phenotypic abnormality	1629	DBT	OMIM:248600
HP:0000118	Phenotypic abnormality	593	BCKDHA	OMIM:248600
HP:0000118	Phenotypic abnormality	594	BCKDHB	OMIM:248600
HP:0000118	Phenotypic abnormality	6660	SOX5	OMIM:616803
HP:0000118	Phenotypic abnormality	10056	FARSB	OMIM:613658
HP:0000118	Phenotypic abnormality	6558	SLC12A2	OMIM:619083
HP:0000118	Phenotypic abnormality	6558	SLC12A2	OMIM:619080
HP:0000118	Phenotypic abnormality	25814	ATXN10	ORPHA:98761
HP:0000118	Phenotypic abnormality	5340	PLG	OMIM:217090
HP:0000118	Phenotypic abnormality	5092	PCBD1	OMIM:264070
HP:0000118	Phenotypic abnormality	9147	NEMF	OMIM:619099
HP:0000118	Phenotypic abnormality	1374	CPT1A	OMIM:255120
HP:0000118	Phenotypic abnormality	147007	TMEM199	OMIM:616829
HP:0000118	Phenotypic abnormality	84317	CCDC115	OMIM:616828
HP:0000118	Phenotypic abnormality	56052	ALG1	OMIM:608540
HP:0000118	Phenotypic abnormality	54704	PDP1	OMIM:608782
HP:0000118	Phenotypic abnormality	2632	GBE1	OMIM:232500
HP:0000118	Phenotypic abnormality	7167	TPI1	OMIM:615512
HP:0000118	Phenotypic abnormality	29926	GMPPA	OMIM:615510
HP:0000118	Phenotypic abnormality	53616	ADAM22	OMIM:617933
HP:0000118	Phenotypic abnormality	10229	COQ7	OMIM:616733
HP:0000118	Phenotypic abnormality	7280	TUBB2A	OMIM:615763
HP:0000118	Phenotypic abnormality	64221	ROBO3	OMIM:607313
HP:0000118	Phenotypic abnormality	2895	GRID2	ORPHA:363432
HP:0000118	Phenotypic abnormality	6709	SPTAN1	OMIM:613477
HP:0000118	Phenotypic abnormality	9378	NRXN1	OMIM:614325
HP:0000118	Phenotypic abnormality	51008	ASCC1	OMIM:616867
HP:0000118	Phenotypic abnormality	1105	CHD1	ORPHA:529965
HP:0000118	Phenotypic abnormality	57511	COG6	OMIM:614576
HP:0000118	Phenotypic abnormality	23065	EMC1	OMIM:616875
HP:0000118	Phenotypic abnormality	7421	VDR	OMIM:277440
HP:0000118	Phenotypic abnormality	128637	TBC1D20	OMIM:615663
HP:0000118	Phenotypic abnormality	175	AGA	OMIM:208400
HP:0000118	Phenotypic abnormality	57531	HACE1	OMIM:616756
HP:0000118	Phenotypic abnormality	4644	MYO5A	ORPHA:79476
HP:0000118	Phenotypic abnormality	326625	MMAB	OMIM:251110
HP:0000118	Phenotypic abnormality	2464	FRA16E	OMIM:136570
HP:0000118	Phenotypic abnormality	23443	SLC35A3	OMIM:615553
HP:0000118	Phenotypic abnormality	51520	LARS1	OMIM:615438
HP:0000118	Phenotypic abnormality	26503	SLC17A5	OMIM:604369
HP:0000118	Phenotypic abnormality	26503	SLC17A5	OMIM:269920
HP:0000118	Phenotypic abnormality	5162	PDHB	OMIM:614111
HP:0000118	Phenotypic abnormality	83737	ITCH	OMIM:613385
HP:0000118	Phenotypic abnormality	28957	MRPS28	OMIM:618958
HP:0000118	Phenotypic abnormality	54802	TRIT1	OMIM:617873
HP:0000118	Phenotypic abnormality	51780	KDM3B	OMIM:618846
HP:0000118	Phenotypic abnormality	5538	PPT1	OMIM:256730
HP:0000118	Phenotypic abnormality	1663	DDX11	OMIM:613398
HP:0000118	Phenotypic abnormality	5455	POU3F3	OMIM:618604
HP:0000118	Phenotypic abnormality	2186	BPTF	OMIM:617755
HP:0000118	Phenotypic abnormality	738	VPS51	OMIM:618606
HP:0000118	Phenotypic abnormality	1585	CYP11B2	ORPHA:556030
HP:0000118	Phenotypic abnormality	4848	CNOT2	OMIM:618608
HP:0000118	Phenotypic abnormality	26229	B3GAT3	OMIM:245600
HP:0000118	Phenotypic abnormality	1468	SLC25A10	OMIM:618972
HP:0000118	Phenotypic abnormality	5087	PBX1	OMIM:617641
HP:0000118	Phenotypic abnormality	115286	SLC25A26	OMIM:616794
HP:0000118	Phenotypic abnormality	6833	ABCC8	OMIM:618857
HP:0000118	Phenotypic abnormality	4858	NOVA2	OMIM:618859
HP:0000118	Phenotypic abnormality	1460	CSNK2B	OMIM:618732
HP:0000118	Phenotypic abnormality	22868	FASTKD2	OMIM:618855
HP:0000118	Phenotypic abnormality	58499	ZNF462	OMIM:618619
HP:0000118	Phenotypic abnormality	5052	PRDX1	OMIM:277400
HP:0000118	Phenotypic abnormality	2582	GALE	OMIM:230350
HP:0000118	Phenotypic abnormality	5396	PRRX1	ORPHA:990
HP:0000118	Phenotypic abnormality	56172	ANKH	ORPHA:1522
HP:0000118	Phenotypic abnormality	1027	CDKN1B	ORPHA:652
HP:0000118	Phenotypic abnormality	1026	CDKN1A	ORPHA:652
HP:0000118	Phenotypic abnormality	1031	CDKN2C	ORPHA:652
HP:0000118	Phenotypic abnormality	10312	TCIRG1	ORPHA:210110
HP:0000118	Phenotypic abnormality	1186	CLCN7	ORPHA:210110
HP:0000118	Phenotypic abnormality	22943	DKK1	ORPHA:268882
HP:0000118	Phenotypic abnormality	8600	TNFSF11	OMIM:259710
HP:0000118	Phenotypic abnormality	7428	VHL	OMIM:263400
HP:0000118	Phenotypic abnormality	7428	VHL	ORPHA:892
HP:0000118	Phenotypic abnormality	55503	TRPV6	OMIM:618188
HP:0000118	Phenotypic abnormality	5009	OTC	OMIM:311250
HP:0000118	Phenotypic abnormality	2997	GYS1	OMIM:611556
HP:0000118	Phenotypic abnormality	7174	TPP2	ORPHA:444463
HP:0000118	Phenotypic abnormality	10560	SLC19A2	ORPHA:49827
HP:0000118	Phenotypic abnormality	10560	SLC19A2	OMIM:249270
HP:0000118	Phenotypic abnormality	11093	ADAMTS13	OMIM:274150
HP:0000118	Phenotypic abnormality	3043	HBB	OMIM:603903
HP:0000118	Phenotypic abnormality	9149	DYRK1B	OMIM:615812
HP:0000118	Phenotypic abnormality	128989	TANGO2	ORPHA:480864
HP:0000118	Phenotypic abnormality	3291	HSD11B2	ORPHA:320
HP:0000118	Phenotypic abnormality	1471	CST3	OMIM:105150
HP:0000118	Phenotypic abnormality	1471	CST3	ORPHA:100008
HP:0000118	Phenotypic abnormality	7092	TLL1	ORPHA:99103
HP:0000118	Phenotypic abnormality	57057	TBX20	ORPHA:99103
HP:0000118	Phenotypic abnormality	4624	MYH6	ORPHA:99103
HP:0000118	Phenotypic abnormality	70	ACTC1	ORPHA:99103
HP:0000118	Phenotypic abnormality	4607	MYBPC3	OMIM:115197
HP:0000118	Phenotypic abnormality	7139	TNNT2	ORPHA:75249
HP:0000118	Phenotypic abnormality	7137	TNNI3	ORPHA:75249
HP:0000118	Phenotypic abnormality	10112	KIF20A	ORPHA:75249
HP:0000118	Phenotypic abnormality	83605	CCM2	OMIM:603284
HP:0000118	Phenotypic abnormality	80206	FHOD3	OMIM:619402
HP:0000118	Phenotypic abnormality	2982	GUCY1A1	ORPHA:401945
HP:0000118	Phenotypic abnormality	595	CCND1	ORPHA:892
HP:0000118	Phenotypic abnormality	2147	F2	OMIM:601367
HP:0000118	Phenotypic abnormality	5583	PRKCH	OMIM:601367
HP:0000118	Phenotypic abnormality	2153	F5	OMIM:601367
HP:0000118	Phenotypic abnormality	241	ALOX5AP	OMIM:601367
HP:0000118	Phenotypic abnormality	445	ASS1	OMIM:215700
HP:0000118	Phenotypic abnormality	5286	PIK3C2A	ORPHA:557003
HP:0000118	Phenotypic abnormality	4860	PNP	ORPHA:760
HP:0000118	Phenotypic abnormality	4615	MYD88	ORPHA:33226
HP:0000118	Phenotypic abnormality	1373	CPS1	OMIM:237300
HP:0000118	Phenotypic abnormality	7535	ZAP70	ORPHA:911
HP:0000118	Phenotypic abnormality	5274	SERPINI1	OMIM:604218
HP:0000118	Phenotypic abnormality	84706	GPT2	OMIM:616281
HP:0000118	Phenotypic abnormality	3155	HMGCL	ORPHA:20
HP:0000118	Phenotypic abnormality	763	CA5A	OMIM:615751
HP:0000118	Phenotypic abnormality	95	ACY1	ORPHA:137754
HP:0000118	Phenotypic abnormality	2731	GLDC	OMIM:605899
HP:0000118	Phenotypic abnormality	275	AMT	OMIM:605899
HP:0000118	Phenotypic abnormality	26275	HIBCH	ORPHA:88639
HP:0000118	Phenotypic abnormality	387787	LIPT2	OMIM:617668
HP:0000118	Phenotypic abnormality	23474	ETHE1	ORPHA:51188
HP:0000118	Phenotypic abnormality	23474	ETHE1	OMIM:602473
HP:0000118	Phenotypic abnormality	2592	GALT	ORPHA:79239
HP:0000118	Phenotypic abnormality	513	ATP5F1D	OMIM:618120
HP:0000118	Phenotypic abnormality	8772	FADD	OMIM:613759
HP:0000118	Phenotypic abnormality	8772	FADD	ORPHA:306550
HP:0000118	Phenotypic abnormality	54968	TMEM70	OMIM:614052
HP:0000118	Phenotypic abnormality	2562	GABRB3	ORPHA:2382
HP:0000118	Phenotypic abnormality	5602	MAPK10	ORPHA:2382
HP:0000118	Phenotypic abnormality	23316	CUX2	ORPHA:2382
HP:0000118	Phenotypic abnormality	25930	PTPN23	OMIM:618890
HP:0000118	Phenotypic abnormality	84947	SERAC1	OMIM:614739
HP:0000118	Phenotypic abnormality	28976	ACAD9	ORPHA:99901
HP:0000118	Phenotypic abnormality	28976	ACAD9	OMIM:611126
HP:0000118	Phenotypic abnormality	788	SLC25A20	ORPHA:159
HP:0000118	Phenotypic abnormality	51241	COX16	OMIM:619355
HP:0000118	Phenotypic abnormality	51660	MPC1	OMIM:614741
HP:0000118	Phenotypic abnormality	3704	ITPA	OMIM:616647
HP:0000118	Phenotypic abnormality	23137	SMC5	OMIM:620185
HP:0000118	Phenotypic abnormality	55739	NAXD	OMIM:618321
HP:0000118	Phenotypic abnormality	1537	CYC1	OMIM:615453
HP:0000118	Phenotypic abnormality	197322	ACSF3	ORPHA:289504
HP:0000118	Phenotypic abnormality	54658	UGT1A1	OMIM:218800
HP:0000118	Phenotypic abnormality	57017	COQ9	OMIM:614654
HP:0000118	Phenotypic abnormality	6620	SNCB	OMIM:127750
HP:0000118	Phenotypic abnormality	375748	ERCC6L2	OMIM:615715
HP:0000118	Phenotypic abnormality	212	ALAS2	ORPHA:75563
HP:0000118	Phenotypic abnormality	54800	KLHL24	OMIM:620236
HP:0000118	Phenotypic abnormality	5371	PML	ORPHA:520
HP:0000118	Phenotypic abnormality	5914	RARA	ORPHA:520
HP:0000118	Phenotypic abnormality	81608	FIP1L1	ORPHA:520
HP:0000118	Phenotypic abnormality	64859	NABP1	ORPHA:520
HP:0000118	Phenotypic abnormality	6777	STAT5B	ORPHA:520
HP:0000118	Phenotypic abnormality	4926	NUMA1	ORPHA:520
HP:0000118	Phenotypic abnormality	7704	ZBTB16	ORPHA:520
HP:0000118	Phenotypic abnormality	57562	CEP126	ORPHA:65684
HP:0000118	Phenotypic abnormality	8074	FGF23	ORPHA:89937
HP:0000118	Phenotypic abnormality	7234	TRU-TCA1-1	OMIM:620198
HP:0000118	Phenotypic abnormality	55679	LIMS2	OMIM:616827
HP:0000118	Phenotypic abnormality	9948	WDR1	OMIM:150550
HP:0000118	Phenotypic abnormality	55037	PTCD3	OMIM:619057
HP:0000118	Phenotypic abnormality	2057	EPOR	OMIM:133100
HP:0000118	Phenotypic abnormality	442721	LMOD2	OMIM:619897
HP:0000118	Phenotypic abnormality	9103	FCGR2C	ORPHA:3002
HP:0000118	Phenotypic abnormality	6007	RHD	OMIM:619462
HP:0000118	Phenotypic abnormality	55969	RAB5IF	OMIM:616994
HP:0000118	Phenotypic abnormality	9918	NCAPD2	OMIM:617983
HP:0000118	Phenotypic abnormality	587	BCAT2	OMIM:618850
HP:0000118	Phenotypic abnormality	3199	HOXA2	ORPHA:83463
HP:0000118	Phenotypic abnormality	9790	BMS1	ORPHA:1114
HP:0000118	Phenotypic abnormality	29887	SNX10	ORPHA:667
HP:0000118	Phenotypic abnormality	4091	SMAD6	OMIM:617439
HP:0000118	Phenotypic abnormality	30011	SH3KBP1	OMIM:300310
HP:0000118	Phenotypic abnormality	3236	HOXD10	OMIM:192950
HP:0000118	Phenotypic abnormality	1314	COPA	OMIM:616414
HP:0000118	Phenotypic abnormality	91662	NLRP12	OMIM:611762
HP:0000118	Phenotypic abnormality	79875	THSD4	OMIM:619825
HP:0000118	Phenotypic abnormality	6583	SLC22A4	OMIM:180300
HP:0000118	Phenotypic abnormality	51744	CD244	OMIM:180300
HP:0000118	Phenotypic abnormality	4795	NFKBIL1	OMIM:180300
HP:0000118	Phenotypic abnormality	5352	PLOD2	OMIM:609220
HP:0000118	Phenotypic abnormality	342035	GLDN	OMIM:617194
HP:0000118	Phenotypic abnormality	8815	BANF1	OMIM:614008
HP:0000118	Phenotypic abnormality	716	C1S	OMIM:617174
HP:0000118	Phenotypic abnormality	3081	HGD	ORPHA:56
HP:0000118	Phenotypic abnormality	23363	OBSL1	ORPHA:2616
HP:0000118	Phenotypic abnormality	83987	CCDC8	ORPHA:2616
HP:0000118	Phenotypic abnormality	7067	THRA	OMIM:614450
HP:0000118	Phenotypic abnormality	4626	MYH8	ORPHA:3377
HP:0000118	Phenotypic abnormality	6424	SFRP4	OMIM:265900
HP:0000118	Phenotypic abnormality	90268	OTULIN	OMIM:617099
HP:0000118	Phenotypic abnormality	144811	LACC1	ORPHA:85414
HP:0000118	Phenotypic abnormality	11200	CHEK2	ORPHA:668
HP:0000118	Phenotypic abnormality	2244	FGB	ORPHA:98880
HP:0000118	Phenotypic abnormality	2266	FGG	ORPHA:98880
HP:0000118	Phenotypic abnormality	54507	ADAMTSL4	ORPHA:1885
HP:0000118	Phenotypic abnormality	340061	STING1	OMIM:615934
HP:0000118	Phenotypic abnormality	54829	ASPN	OMIM:607850
HP:0000118	Phenotypic abnormality	5176	SERPINF1	OMIM:613982
HP:0000118	Phenotypic abnormality	10484	SEC23A	OMIM:607812
HP:0000118	Phenotypic abnormality	1244	ABCC2	ORPHA:234
HP:0000118	Phenotypic abnormality	4609	MYC	ORPHA:543
HP:0000118	Phenotypic abnormality	590	BCHE	ORPHA:132
HP:0000118	Phenotypic abnormality	7018	TF	OMIM:209300
HP:0000118	Phenotypic abnormality	8742	TNFSF12	ORPHA:1572
HP:0000118	Phenotypic abnormality	931	MS4A1	ORPHA:1572
HP:0000118	Phenotypic abnormality	8647	ABCB11	OMIM:601847
HP:0000118	Phenotypic abnormality	7036	TFR2	OMIM:604250
HP:0000118	Phenotypic abnormality	7389	UROD	OMIM:176100
HP:0000118	Phenotypic abnormality	4233	MET	ORPHA:33402
HP:0000118	Phenotypic abnormality	644	BLVRA	OMIM:614156
HP:0000118	Phenotypic abnormality	54532	USP53	OMIM:619658
HP:0000118	Phenotypic abnormality	113220	KIF12	OMIM:619662
HP:0000118	Phenotypic abnormality	286053	NSMCE2	OMIM:617253
HP:0000118	Phenotypic abnormality	286053	NSMCE2	ORPHA:436182
HP:0000118	Phenotypic abnormality	30061	SLC40A1	ORPHA:139491
HP:0000118	Phenotypic abnormality	30061	SLC40A1	OMIM:606069
HP:0000118	Phenotypic abnormality	208	AKT2	ORPHA:79085
HP:0000118	Phenotypic abnormality	1581	CYP7A1	ORPHA:209902
HP:0000118	Phenotypic abnormality	5424	POLD1	OMIM:615381
HP:0000118	Phenotypic abnormality	5106	PCK2	OMIM:261650
HP:0000118	Phenotypic abnormality	2819	GPD1	OMIM:614480
HP:0000118	Phenotypic abnormality	51081	MRPS7	OMIM:617872
HP:0000118	Phenotypic abnormality	2235	FECH	OMIM:177000
HP:0000118	Phenotypic abnormality	2165	F13B	ORPHA:331
HP:0000118	Phenotypic abnormality	2162	F13A1	ORPHA:331
HP:0000118	Phenotypic abnormality	9971	NR1H4	OMIM:617049
HP:0000118	Phenotypic abnormality	570	BAAT	OMIM:619232
HP:0000118	Phenotypic abnormality	50615	IL21R	OMIM:615207
HP:0000118	Phenotypic abnormality	5157	PDGFRL	OMIM:114550
HP:0000118	Phenotypic abnormality	3482	IGF2R	OMIM:114550
HP:0000118	Phenotypic abnormality	1794	DOCK2	OMIM:616433
HP:0000118	Phenotypic abnormality	200931	SLC51A	OMIM:619484
HP:0000118	Phenotypic abnormality	84936	ZFYVE19	OMIM:619849
HP:0000118	Phenotypic abnormality	93183	PIGM	OMIM:610293
HP:0000118	Phenotypic abnormality	55340	GIMAP5	OMIM:619463
HP:0000118	Phenotypic abnormality	55278	QRSL1	OMIM:618835
HP:0000118	Phenotypic abnormality	51649	MRPS23	OMIM:618952
HP:0000118	Phenotypic abnormality	283459	GATC	OMIM:618839
HP:0000118	Phenotypic abnormality	2954	GSTZ1	OMIM:617596
HP:0000118	Phenotypic abnormality	65080	MRPL44	OMIM:615395
HP:0000118	Phenotypic abnormality	3071	NCKAP1L	OMIM:618982
HP:0000118	Phenotypic abnormality	57654	UVSSA	OMIM:614640
HP:0000118	Phenotypic abnormality	23328	SASH1	OMIM:618373
HP:0000118	Phenotypic abnormality	401	PHOX2A	OMIM:602078
HP:0000118	Phenotypic abnormality	55605	KIF21A	OMIM:135700
HP:0000118	Phenotypic abnormality	343637	RSPO4	OMIM:206800
HP:0000118	Phenotypic abnormality	8540	AGPS	OMIM:600121
HP:0000118	Phenotypic abnormality	4808	NHLH2	OMIM:619755
HP:0000118	Phenotypic abnormality	155	ADRB3	OMIM:601665
HP:0000118	Phenotypic abnormality	7352	UCP3	OMIM:601665
HP:0000118	Phenotypic abnormality	8431	NR0B2	OMIM:601665
HP:0000118	Phenotypic abnormality	9607	CARTPT	OMIM:601665
HP:0000118	Phenotypic abnormality	51738	GHRL	OMIM:601665
HP:0000118	Phenotypic abnormality	9672	SDC3	OMIM:601665
HP:0000118	Phenotypic abnormality	181	AGRP	OMIM:601665
HP:0000118	Phenotypic abnormality	493753	COA5	OMIM:616500
HP:0000118	Phenotypic abnormality	93166	PRDM6	OMIM:617039
HP:0000118	Phenotypic abnormality	55329	MNS1	OMIM:618948
HP:0000118	Phenotypic abnormality	5269	SERPINB6	OMIM:613453
HP:0000118	Phenotypic abnormality	3921	RPSA	OMIM:271400
HP:0000118	Phenotypic abnormality	643226	GRXCR2	OMIM:615837
HP:0000118	Phenotypic abnormality	220074	LRTOMT	OMIM:611451
HP:0000118	Phenotypic abnormality	1559	CYP2C9	OMIM:122700
HP:0000118	Phenotypic abnormality	1548	CYP2A6	OMIM:122700
HP:0000118	Phenotypic abnormality	54205	CYCS	OMIM:612004
HP:0000118	Phenotypic abnormality	203	AK1	OMIM:612631
HP:0000118	Phenotypic abnormality	196527	ANO6	OMIM:262890
HP:0000118	Phenotypic abnormality	79001	VKORC1	OMIM:607473
HP:0000118	Phenotypic abnormality	669	BPGM	OMIM:222800
HP:0000118	Phenotypic abnormality	2056	EPO	OMIM:617907
HP:0000118	Phenotypic abnormality	54583	EGLN1	OMIM:609820
HP:0000118	Phenotypic abnormality	948	CD36	OMIM:608404
HP:0000118	Phenotypic abnormality	6731	SRP72	OMIM:614675
HP:0000118	Phenotypic abnormality	3045	HBD	ORPHA:231237
HP:0000118	Phenotypic abnormality	5199	CFP	OMIM:312060
HP:0000118	Phenotypic abnormality	7172	TPMT	OMIM:610460
HP:0000118	Phenotypic abnormality	10	NAT2	OMIM:243400
HP:0000118	Phenotypic abnormality	5241	PGR	OMIM:264080
HP:0000118	Phenotypic abnormality	5188	GATB	OMIM:618838
HP:0000118	Phenotypic abnormality	525	ATP6V1B1	OMIM:267300
HP:0000118	Phenotypic abnormality	1811	SLC26A3	OMIM:214700
HP:0000118	Phenotypic abnormality	1837	DTNA	OMIM:604169
HP:0000118	Phenotypic abnormality	4634	MYL3	OMIM:608751
HP:0000118	Phenotypic abnormality	81624	DIAPH3	OMIM:609129
HP:0000118	Phenotypic abnormality	22852	ANKRD26	OMIM:188000
HP:0000118	Phenotypic abnormality	126326	GIPC3	OMIM:601869
HP:0000118	Phenotypic abnormality	6714	SRC	OMIM:616937
HP:0000118	Phenotypic abnormality	1747	DLX3	OMIM:190320
HP:0000118	Phenotypic abnormality	1747	DLX3	ORPHA:3352
HP:0000118	Phenotypic abnormality	5651	TMPRSS15	OMIM:226200
HP:0000118	Phenotypic abnormality	8694	DGAT1	OMIM:615863
HP:0000118	Phenotypic abnormality	7482	WNT2B	OMIM:618168
HP:0000118	Phenotypic abnormality	7124	TNF	OMIM:157300
HP:0000118	Phenotypic abnormality	6907	TBL1X	OMIM:301033
HP:0000118	Phenotypic abnormality	115908	CTHRC1	OMIM:614266
HP:0000118	Phenotypic abnormality	4481	MSR1	OMIM:614266
HP:0000118	Phenotypic abnormality	4842	NOS1	ORPHA:930
HP:0000118	Phenotypic abnormality	6476	SI	OMIM:222900
HP:0000118	Phenotypic abnormality	2642	GCGR	OMIM:619290
HP:0000118	Phenotypic abnormality	2642	GCGR	ORPHA:438274
HP:0000118	Phenotypic abnormality	2984	GUCY2C	OMIM:614616
HP:0000118	Phenotypic abnormality	22900	CARD8	OMIM:619079
HP:0000118	Phenotypic abnormality	3047	HBG1	ORPHA:251380
HP:0000118	Phenotypic abnormality	5774	PTPN3	ORPHA:70567
HP:0000118	Phenotypic abnormality	1357	CPA1	ORPHA:676
HP:0000118	Phenotypic abnormality	4792	NFKBIA	OMIM:612132
HP:0000118	Phenotypic abnormality	5243	ABCB1	OMIM:612244
HP:0000118	Phenotypic abnormality	345611	IRGM	OMIM:612278
HP:0000118	Phenotypic abnormality	59067	IL21	OMIM:615767
HP:0000118	Phenotypic abnormality	3709	ITPR2	OMIM:106190
HP:0000118	Phenotypic abnormality	610	HCN2	OMIM:602477
HP:0000118	Phenotypic abnormality	135	ADORA2A	ORPHA:363549
HP:0000118	Phenotypic abnormality	3350	HTR1A	OMIM:614674
HP:0000118	Phenotypic abnormality	80216	ALPK1	OMIM:614979
HP:0000118	Phenotypic abnormality	26011	TENM4	OMIM:616736
HP:0000118	Phenotypic abnormality	1453	CSNK1D	OMIM:615224
HP:0000118	Phenotypic abnormality	338567	KCNK18	OMIM:613656
HP:0000118	Phenotypic abnormality	7414	VCL	OMIM:613255
HP:0000118	Phenotypic abnormality	6123	RPL3L	OMIM:619371
HP:0000118	Phenotypic abnormality	4093	SMAD9	OMIM:615342
HP:0000118	Phenotypic abnormality	3777	KCNK3	OMIM:615344
HP:0000118	Phenotypic abnormality	23396	PIP5K1C	OMIM:611369
HP:0000118	Phenotypic abnormality	4938	OAS1	OMIM:618042
HP:0000118	Phenotypic abnormality	57158	JPH2	OMIM:613873
HP:0000118	Phenotypic abnormality	399	RHOH	OMIM:618307
HP:0000118	Phenotypic abnormality	6890	TAP1	OMIM:604571
HP:0000118	Phenotypic abnormality	6891	TAP2	OMIM:604571
HP:0000118	Phenotypic abnormality	6892	TAPBP	OMIM:604571
HP:0000118	Phenotypic abnormality	154	ADRB2	OMIM:600807
HP:0000118	Phenotypic abnormality	240	ALOX5	OMIM:600807
HP:0000118	Phenotypic abnormality	7941	PLA2G7	OMIM:600807
HP:0000118	Phenotypic abnormality	7941	PLA2G7	OMIM:147050
HP:0000118	Phenotypic abnormality	6356	CCL11	OMIM:600807
HP:0000118	Phenotypic abnormality	4589	MUC7	OMIM:600807
HP:0000118	Phenotypic abnormality	117156	SCGB3A2	OMIM:600807
HP:0000118	Phenotypic abnormality	3135	HLA-G	OMIM:600807
HP:0000118	Phenotypic abnormality	3596	IL13	OMIM:600807
HP:0000118	Phenotypic abnormality	3566	IL4R	OMIM:147050
HP:0000118	Phenotypic abnormality	2206	MS4A2	OMIM:147050
HP:0000118	Phenotypic abnormality	8382	NME5	OMIM:620032
HP:0000118	Phenotypic abnormality	10379	IRF9	OMIM:618648
HP:0000118	Phenotypic abnormality	7277	TUBA4A	OMIM:616208
HP:0000118	Phenotypic abnormality	55811	ADCY10	OMIM:143870
HP:0000118	Phenotypic abnormality	55811	ADCY10	ORPHA:2197
HP:0000118	Phenotypic abnormality	7381	UQCRB	OMIM:615158
HP:0000118	Phenotypic abnormality	771	CA12	OMIM:143860
HP:0000118	Phenotypic abnormality	65266	WNK4	OMIM:614491
HP:0000118	Phenotypic abnormality	26249	KLHL3	OMIM:614495
HP:0000118	Phenotypic abnormality	348932	SLC6A18	ORPHA:42062
HP:0000118	Phenotypic abnormality	54716	SLC6A20	ORPHA:42062
HP:0000118	Phenotypic abnormality	84699	CREB3L3	OMIM:619324
HP:0000118	Phenotypic abnormality	5699	PSMB10	OMIM:619175
HP:0000118	Phenotypic abnormality	344	APOC2	OMIM:207750
HP:0000118	Phenotypic abnormality	8323	FZD6	OMIM:161050
HP:0000118	Phenotypic abnormality	123041	SLC24A4	OMIM:615887
HP:0000118	Phenotypic abnormality	10203	CALCRL	OMIM:618773
HP:0000118	Phenotypic abnormality	55596	ZCCHC8	OMIM:618674
HP:0000118	Phenotypic abnormality	54084	TSPEAR	OMIM:618180
HP:0000118	Phenotypic abnormality	79669	C3orf52	OMIM:620177
HP:0000118	Phenotypic abnormality	3122	HLA-DRA	ORPHA:505
HP:0000118	Phenotypic abnormality	1474	CST6	OMIM:618535
HP:0000118	Phenotypic abnormality	8313	AXIN2	OMIM:608615
HP:0000118	Phenotypic abnormality	84946	LTV1	OMIM:620199
HP:0000118	Phenotypic abnormality	112802	KRT71	ORPHA:170
HP:0000118	Phenotypic abnormality	112802	KRT71	OMIM:615896
HP:0000118	Phenotypic abnormality	147183	KRT25	ORPHA:170
HP:0000118	Phenotypic abnormality	120766137	HRURF	OMIM:146550
HP:0000118	Phenotypic abnormality	7062	TCHH	OMIM:617252
HP:0000118	Phenotypic abnormality	8482	SEMA7A	OMIM:619874
HP:0000118	Phenotypic abnormality	6097	RORC	OMIM:616622
HP:0000118	Phenotypic abnormality	27232	GNMT	OMIM:606664
HP:0000118	Phenotypic abnormality	283652	SLC24A5	OMIM:113750
HP:0000118	Phenotypic abnormality	83999	KREMEN1	OMIM:617392
HP:0000118	Phenotypic abnormality	1690	COCH	OMIM:601369
HP:0000118	Phenotypic abnormality	23397	NCAPH	OMIM:617985
HP:0000118	Phenotypic abnormality	3067	HDC	OMIM:137580
HP:0000118	Phenotypic abnormality	5373	PMM2	OMIM:212065
HP:0000118	Phenotypic abnormality	23646	PLD3	OMIM:617770
HP:0000118	Phenotypic abnormality	64207	IRF2BPL	OMIM:618088
HP:0000118	Phenotypic abnormality	8566	PDXK	OMIM:618511
HP:0000118	Phenotypic abnormality	9750	RIPOR2	OMIM:616515
HP:0000118	Phenotypic abnormality	6908	TBP	OMIM:607136
HP:0000118	Phenotypic abnormality	5521	PPP2R2B	ORPHA:98762
HP:0000118	Phenotypic abnormality	3748	KCNC3	OMIM:605259
HP:0000118	Phenotypic abnormality	2911	GRM1	ORPHA:324262
HP:0000118	Phenotypic abnormality	1600	DAB1	ORPHA:363710
HP:0000118	Phenotypic abnormality	3569	IL6	OMIM:108010
HP:0000118	Phenotypic abnormality	94	ACVRL1	OMIM:600376
HP:0000118	Phenotypic abnormality	6599	SMARCC1	OMIM:620241
HP:0000118	Phenotypic abnormality	6647	SOD1	OMIM:618598
HP:0000118	Phenotypic abnormality	203190	LGI3	OMIM:620007
HP:0000118	Phenotypic abnormality	6662	SOX9	OMIM:114290
HP:0000118	Phenotypic abnormality	9573	GDF3	ORPHA:2345
HP:0000118	Phenotypic abnormality	4222	MEOX1	ORPHA:2345
HP:0000118	Phenotypic abnormality	29968	PSAT1	OMIM:616038
HP:0000118	Phenotypic abnormality	55521	TRIM36	OMIM:206500
HP:0000118	Phenotypic abnormality	3735	KARS1	OMIM:619196
HP:0000118	Phenotypic abnormality	5091	PC	OMIM:266150
HP:0000118	Phenotypic abnormality	26235	FBXL4	OMIM:615471
HP:0000118	Phenotypic abnormality	11019	LIAS	OMIM:614462
HP:0000118	Phenotypic abnormality	51501	HIKESHI	OMIM:616881
HP:0000118	Phenotypic abnormality	81689	ISCA1	OMIM:617613
HP:0000118	Phenotypic abnormality	9255	AIMP1	OMIM:260600
HP:0000118	Phenotypic abnormality	64857	PLEKHG2	OMIM:616763
HP:0000118	Phenotypic abnormality	100996717	NOTCH2NLC	OMIM:618866
HP:0000118	Phenotypic abnormality	9533	POLR1C	OMIM:616494
HP:0000118	Phenotypic abnormality	122961	ISCA2	OMIM:616370
HP:0000118	Phenotypic abnormality	7284	TUFM	OMIM:610678
HP:0000118	Phenotypic abnormality	2058	EPRS1	OMIM:617951
HP:0000118	Phenotypic abnormality	7965	AIMP2	OMIM:618006
HP:0000118	Phenotypic abnormality	85021	REPS1	OMIM:617916
HP:0000118	Phenotypic abnormality	3431	SP110	ORPHA:79124
HP:0000118	Phenotypic abnormality	8789	FBP2	OMIM:619864
HP:0000118	Phenotypic abnormality	18	ABAT	OMIM:613163
HP:0000118	Phenotypic abnormality	55331	ACER3	OMIM:617762
HP:0000118	Phenotypic abnormality	80169	CTC1	OMIM:612199
HP:0000118	Phenotypic abnormality	10535	RNASEH2A	OMIM:610333
HP:0000118	Phenotypic abnormality	10535	RNASEH2A	ORPHA:51
HP:0000118	Phenotypic abnormality	84668	HYCC1	OMIM:610532
HP:0000118	Phenotypic abnormality	25939	SAMHD1	OMIM:612952
HP:0000118	Phenotypic abnormality	25939	SAMHD1	ORPHA:51
HP:0000118	Phenotypic abnormality	84153	RNASEH2C	ORPHA:51
HP:0000118	Phenotypic abnormality	79621	RNASEH2B	ORPHA:51
HP:0000118	Phenotypic abnormality	134353	LSM11	ORPHA:51
HP:0000118	Phenotypic abnormality	84705	GTPBP3	ORPHA:444013
HP:0000118	Phenotypic abnormality	10844	TUBGCP2	OMIM:618737
HP:0000118	Phenotypic abnormality	728294	D2HGDH	OMIM:600721
HP:0000118	Phenotypic abnormality	2752	GLUL	OMIM:610015
HP:0000118	Phenotypic abnormality	55770	EXOC2	OMIM:619306
HP:0000118	Phenotypic abnormality	1144	CHRND	OMIM:616321
HP:0000118	Phenotypic abnormality	781	CACNA2D1	OMIM:620149
HP:0000118	Phenotypic abnormality	781	CACNA2D1	ORPHA:442835
HP:0000118	Phenotypic abnormality	3073	HEXA	OMIM:272800
HP:0000118	Phenotypic abnormality	55610	VPS50	OMIM:619685
HP:0000118	Phenotypic abnormality	10659	CELF2	OMIM:619561
HP:0000118	Phenotypic abnormality	10659	CELF2	ORPHA:442835
HP:0000118	Phenotypic abnormality	51506	UFC1	OMIM:618076
HP:0000118	Phenotypic abnormality	9342	SNAP29	ORPHA:66631
HP:0000118	Phenotypic abnormality	9342	SNAP29	OMIM:609528
HP:0000118	Phenotypic abnormality	5917	RARS1	ORPHA:438114
HP:0000118	Phenotypic abnormality	5917	RARS1	OMIM:616140
HP:0000118	Phenotypic abnormality	84466	MEGF10	OMIM:614399
HP:0000118	Phenotypic abnormality	51010	EXOSC3	OMIM:614678
HP:0000118	Phenotypic abnormality	55033	FKBP14	OMIM:614557
HP:0000118	Phenotypic abnormality	55033	FKBP14	ORPHA:300179
HP:0000118	Phenotypic abnormality	55250	ELP2	OMIM:617270
HP:0000118	Phenotypic abnormality	9512	PMPCB	OMIM:617954
HP:0000118	Phenotypic abnormality	191	AHCY	OMIM:613752
HP:0000118	Phenotypic abnormality	191	AHCY	ORPHA:88618
HP:0000118	Phenotypic abnormality	819	CAMLG	OMIM:620201
HP:0000118	Phenotypic abnormality	6606	SMN1	OMIM:253300
HP:0000118	Phenotypic abnormality	4633	MYL2	ORPHA:2020
HP:0000118	Phenotypic abnormality	3679	ITGA7	ORPHA:2020
HP:0000118	Phenotypic abnormality	9200	HACD1	ORPHA:2020
HP:0000118	Phenotypic abnormality	388962	BOLA3	OMIM:614299
HP:0000118	Phenotypic abnormality	3737	KCNA2	ORPHA:442835
HP:0000118	Phenotypic abnormality	1759	DNM1	ORPHA:442835
HP:0000118	Phenotypic abnormality	1759	DNM1	OMIM:620352
HP:0000118	Phenotypic abnormality	8120	AP3B2	ORPHA:442835
HP:0000118	Phenotypic abnormality	10991	SLC38A3	ORPHA:442835
HP:0000118	Phenotypic abnormality	51343	FZR1	ORPHA:442835
HP:0000118	Phenotypic abnormality	22906	TRAK1	ORPHA:442835
HP:0000118	Phenotypic abnormality	1917	EEF1A2	ORPHA:442835
HP:0000118	Phenotypic abnormality	2561	GABRB2	ORPHA:442835
HP:0000118	Phenotypic abnormality	7532	YWHAG	ORPHA:442835
HP:0000118	Phenotypic abnormality	79876	UBA5	ORPHA:442835
HP:0000118	Phenotypic abnormality	6328	SCN3A	ORPHA:442835
HP:0000118	Phenotypic abnormality	2906	GRIN2D	ORPHA:442835
HP:0000118	Phenotypic abnormality	116150	NUS1	ORPHA:442835
HP:0000118	Phenotypic abnormality	1213	CLTC	ORPHA:442835
HP:0000118	Phenotypic abnormality	23334	SZT2	ORPHA:442835
HP:0000118	Phenotypic abnormality	51412	ACTL6B	ORPHA:442835
HP:0000118	Phenotypic abnormality	348980	HCN1	ORPHA:442835
HP:0000118	Phenotypic abnormality	6506	SLC1A2	ORPHA:442835
HP:0000118	Phenotypic abnormality	8867	SYNJ1	ORPHA:442835
HP:0000118	Phenotypic abnormality	2258	FGF13	ORPHA:442835
HP:0000118	Phenotypic abnormality	3745	KCNB1	ORPHA:442835
HP:0000118	Phenotypic abnormality	284111	SLC13A5	ORPHA:442835
HP:0000118	Phenotypic abnormality	25977	NECAP1	ORPHA:442835
HP:0000118	Phenotypic abnormality	22866	CNKSR2	ORPHA:442835
HP:0000118	Phenotypic abnormality	9568	GABBR2	ORPHA:442835
HP:0000118	Phenotypic abnormality	9568	GABBR2	OMIM:617904
HP:0000118	Phenotypic abnormality	2555	GABRA2	ORPHA:442835
HP:0000118	Phenotypic abnormality	55152	DALRD3	ORPHA:442835
HP:0000118	Phenotypic abnormality	26999	CYFIP2	ORPHA:442835
HP:0000118	Phenotypic abnormality	4915	NTRK2	ORPHA:442835
HP:0000118	Phenotypic abnormality	25973	PARS2	ORPHA:442835
HP:0000118	Phenotypic abnormality	23097	CDK19	ORPHA:442835
HP:0000118	Phenotypic abnormality	64801	ARV1	ORPHA:442835
HP:0000118	Phenotypic abnormality	5281	PIGF	OMIM:619356
HP:0000118	Phenotypic abnormality	84879	MFSD2A	OMIM:616486
HP:0000118	Phenotypic abnormality	3747	KCNC2	OMIM:619913
HP:0000118	Phenotypic abnormality	116115	ZNF526	OMIM:619877
HP:0000118	Phenotypic abnormality	9091	PIGQ	OMIM:618548
HP:0000118	Phenotypic abnormality	9091	PIGQ	ORPHA:1934
HP:0000118	Phenotypic abnormality	3251	HPRT1	OMIM:300322
HP:0000118	Phenotypic abnormality	253959	RALGAPA1	OMIM:618797
HP:0000118	Phenotypic abnormality	163175	LGI4	OMIM:617468
HP:0000118	Phenotypic abnormality	4649	MYO9A	ORPHA:98914
HP:0000118	Phenotypic abnormality	1103	CHAT	ORPHA:98914
HP:0000118	Phenotypic abnormality	6576	SLC25A1	ORPHA:98914
HP:0000118	Phenotypic abnormality	375790	AGRN	ORPHA:98914
HP:0000118	Phenotypic abnormality	6572	SLC18A3	ORPHA:98914
HP:0000118	Phenotypic abnormality	10681	GNB5	ORPHA:542306
HP:0000118	Phenotypic abnormality	111	ADCY5	OMIM:619651
HP:0000118	Phenotypic abnormality	125988	MICOS13	OMIM:618329
HP:0000118	Phenotypic abnormality	51227	PIGP	OMIM:617599
HP:0000118	Phenotypic abnormality	51227	PIGP	ORPHA:1934
HP:0000118	Phenotypic abnormality	9725	TMEM63A	OMIM:618688
HP:0000118	Phenotypic abnormality	50628	GEMIN4	OMIM:617913
HP:0000118	Phenotypic abnormality	57731	SPTBN4	OMIM:617519
HP:0000118	Phenotypic abnormality	124454	EARS2	OMIM:614924
HP:0000118	Phenotypic abnormality	1719	DHFR	OMIM:613839
HP:0000118	Phenotypic abnormality	6567	SLC16A2	ORPHA:59
HP:0000118	Phenotypic abnormality	64432	MRPS25	OMIM:619025
HP:0000118	Phenotypic abnormality	8884	SLC5A6	OMIM:618973
HP:0000118	Phenotypic abnormality	221692	PHACTR1	OMIM:618298
HP:0000118	Phenotypic abnormality	10243	GPHN	OMIM:615501
HP:0000118	Phenotypic abnormality	1140	CHRNB1	OMIM:616313
HP:0000118	Phenotypic abnormality	3329	HSPD1	OMIM:612233
HP:0000118	Phenotypic abnormality	8449	DHX16	OMIM:618733
HP:0000118	Phenotypic abnormality	7407	VARS1	OMIM:617802
HP:0000118	Phenotypic abnormality	27445	PCLO	OMIM:608027
HP:0000118	Phenotypic abnormality	81603	TRIM8	ORPHA:1934
HP:0000118	Phenotypic abnormality	79751	SLC25A22	ORPHA:1934
HP:0000118	Phenotypic abnormality	150094	SIK1	ORPHA:1934
HP:0000118	Phenotypic abnormality	23312	DMXL2	ORPHA:1934
HP:0000118	Phenotypic abnormality	4353	MPO	OMIM:104300
HP:0000118	Phenotypic abnormality	4846	NOS3	OMIM:104300
HP:0000118	Phenotypic abnormality	3077	HFE	OMIM:104300
HP:0000118	Phenotypic abnormality	5328	PLAU	OMIM:104300
HP:0000118	Phenotypic abnormality	9829	DNAJC6	ORPHA:391411
HP:0000118	Phenotypic abnormality	5420	PODXL	ORPHA:391411
HP:0000118	Phenotypic abnormality	8131	NPRL3	ORPHA:98820
HP:0000118	Phenotypic abnormality	10641	NPRL2	ORPHA:98820
HP:0000118	Phenotypic abnormality	9681	DEPDC5	ORPHA:98820
HP:0000118	Phenotypic abnormality	134701	RIPPLY2	ORPHA:2311
HP:0000118	Phenotypic abnormality	10683	DLL3	ORPHA:2311
HP:0000118	Phenotypic abnormality	3955	LFNG	ORPHA:2311
HP:0000118	Phenotypic abnormality	145873	MESP2	ORPHA:2311
HP:0000118	Phenotypic abnormality	148789	B3GALNT2	ORPHA:588
HP:0000118	Phenotypic abnormality	1540	CYLD	OMIM:619132
HP:0000118	Phenotypic abnormality	6736	SRY	ORPHA:1772
HP:0000118	Phenotypic abnormality	203228	C9orf72	OMIM:105550
HP:0000118	Phenotypic abnormality	64601	VPS16	OMIM:619291
HP:0000118	Phenotypic abnormality	4990	SIX6	OMIM:206900
HP:0000118	Phenotypic abnormality	6657	SOX2	OMIM:206900
HP:0000118	Phenotypic abnormality	4123	MAN2C1	OMIM:619775
HP:0000118	Phenotypic abnormality	7074	TIAM1	OMIM:619908
HP:0000118	Phenotypic abnormality	10134	BCAP31	OMIM:300475
HP:0000118	Phenotypic abnormality	10134	BCAP31	ORPHA:369939
HP:0000118	Phenotypic abnormality	22845	DOLK	OMIM:610768
HP:0000118	Phenotypic abnormality	701	BUB1B	OMIM:257300
HP:0000118	Phenotypic abnormality	5903	RANBP2	OMIM:608033
HP:0000118	Phenotypic abnormality	5551	PRF1	OMIM:603553
HP:0000118	Phenotypic abnormality	56246	MRAP	ORPHA:361
HP:0000118	Phenotypic abnormality	6770	STAR	ORPHA:361
HP:0000118	Phenotypic abnormality	4158	MC2R	ORPHA:361
HP:0000118	Phenotypic abnormality	23530	NNT	ORPHA:361
HP:0000118	Phenotypic abnormality	10587	TXNRD2	ORPHA:361
HP:0000118	Phenotypic abnormality	374354	NHLRC2	OMIM:618278
HP:0000118	Phenotypic abnormality	51693	TRAPPC2L	OMIM:618331
HP:0000118	Phenotypic abnormality	64135	IFIH1	OMIM:615846
HP:0000118	Phenotypic abnormality	57582	KCNT1	OMIM:614959
HP:0000118	Phenotypic abnormality	23636	NUP62	ORPHA:225154
HP:0000118	Phenotypic abnormality	103	ADAR	ORPHA:225154
HP:0000118	Phenotypic abnormality	92335	STRADA	OMIM:611087
HP:0000118	Phenotypic abnormality	3908	LAMA2	ORPHA:258
HP:0000118	Phenotypic abnormality	8942	KYNU	ORPHA:79155
HP:0000118	Phenotypic abnormality	132158	GLYCTK	ORPHA:941
HP:0000118	Phenotypic abnormality	2774	GNAL	OMIM:615073
HP:0000118	Phenotypic abnormality	2774	GNAL	ORPHA:329466
HP:0000118	Phenotypic abnormality	51102	MECR	ORPHA:508093
HP:0000118	Phenotypic abnormality	58494	JAM2	OMIM:618824
HP:0000118	Phenotypic abnormality	54832	VPS13C	OMIM:616840
HP:0000118	Phenotypic abnormality	55145	THAP1	ORPHA:98806
HP:0000118	Phenotypic abnormality	55145	THAP1	OMIM:602629
HP:0000118	Phenotypic abnormality	6571	SLC18A2	ORPHA:352649
HP:0000118	Phenotypic abnormality	6872	TAF1	ORPHA:53351
HP:0000118	Phenotypic abnormality	3208	HPCA	ORPHA:99657
HP:0000118	Phenotypic abnormality	90522	YIF1B	OMIM:619125
HP:0000118	Phenotypic abnormality	5610	EIF2AK2	OMIM:619687
HP:0000118	Phenotypic abnormality	1841	DTYMK	OMIM:619847
HP:0000118	Phenotypic abnormality	128486	FITM2	OMIM:618635
HP:0000118	Phenotypic abnormality	150468	CKAP2L	ORPHA:3255
HP:0000118	Phenotypic abnormality	63982	ANO3	ORPHA:420485
HP:0000118	Phenotypic abnormality	8575	PRKRA	ORPHA:210571
HP:0000118	Phenotypic abnormality	8575	PRKRA	OMIM:612067
HP:0000118	Phenotypic abnormality	84504	NKX6-2	OMIM:617560
HP:0000118	Phenotypic abnormality	3785	KCNQ2	ORPHA:439218
HP:0000118	Phenotypic abnormality	5430	POLR2A	OMIM:618603
HP:0000118	Phenotypic abnormality	113612	CYP2U1	ORPHA:320411
HP:0000118	Phenotypic abnormality	55532	SLC30A10	ORPHA:309854
HP:0000118	Phenotypic abnormality	80347	COASY	ORPHA:397725
HP:0000118	Phenotypic abnormality	2512	FTL	ORPHA:157846
HP:0000118	Phenotypic abnormality	318	NUDT2	OMIM:619844
HP:0000118	Phenotypic abnormality	7072	TIA1	OMIM:604454
HP:0000118	Phenotypic abnormality	1410	CRYAB	OMIM:608810
HP:0000118	Phenotypic abnormality	8291	DYSF	OMIM:254130
HP:0000118	Phenotypic abnormality	50717	DCAF8	OMIM:610100
HP:0000118	Phenotypic abnormality	23435	TARDBP	ORPHA:275872
HP:0000118	Phenotypic abnormality	4625	MYH7	ORPHA:59135
HP:0000118	Phenotypic abnormality	4625	MYH7	OMIM:160500
HP:0000118	Phenotypic abnormality	9499	MYOT	ORPHA:266
HP:0000118	Phenotypic abnormality	7879	RAB7A	OMIM:600882
HP:0000118	Phenotypic abnormality	7273	TTN	OMIM:608807
HP:0000118	Phenotypic abnormality	7273	TTN	ORPHA:178464
HP:0000118	Phenotypic abnormality	101060691	NUTM2B-AS1	OMIM:618637
HP:0000118	Phenotypic abnormality	3508	IGHMBP2	OMIM:604320
HP:0000118	Phenotypic abnormality	2673	GFPT1	ORPHA:353327
HP:0000118	Phenotypic abnormality	85365	ALG2	ORPHA:353327
HP:0000118	Phenotypic abnormality	60482	SLC5A7	OMIM:158580
HP:0000118	Phenotypic abnormality	2892	GRIA3	OMIM:300699
HP:0000118	Phenotypic abnormality	2892	GRIA3	ORPHA:364028
HP:0000118	Phenotypic abnormality	57449	PLEKHG5	OMIM:615376
HP:0000118	Phenotypic abnormality	57449	PLEKHG5	OMIM:611067
HP:0000118	Phenotypic abnormality	274	BIN1	OMIM:255200
HP:0000118	Phenotypic abnormality	7920	ABHD16A	OMIM:619735
HP:0000118	Phenotypic abnormality	29967	LRP12	OMIM:164310
HP:0000118	Phenotypic abnormality	4620	MYH2	OMIM:605637
HP:0000118	Phenotypic abnormality	88	ACTN2	OMIM:618654
HP:0000118	Phenotypic abnormality	88	ACTN2	OMIM:618655
HP:0000118	Phenotypic abnormality	83636	C19orf12	OMIM:614298
HP:0000118	Phenotypic abnormality	9517	SPTLC2	OMIM:613640
HP:0000118	Phenotypic abnormality	9517	SPTLC2	ORPHA:36386
HP:0000118	Phenotypic abnormality	65998	ZFTA	ORPHA:251636
HP:0000118	Phenotypic abnormality	5970	RELA	ORPHA:251636
HP:0000118	Phenotypic abnormality	25923	ATL3	ORPHA:36386
HP:0000118	Phenotypic abnormality	5255	PHKA1	OMIM:300559
HP:0000118	Phenotypic abnormality	60481	ELOVL5	OMIM:615957
HP:0000118	Phenotypic abnormality	60481	ELOVL5	ORPHA:423296
HP:0000118	Phenotypic abnormality	8898	MTMR2	OMIM:601382
HP:0000118	Phenotypic abnormality	23095	KIF1B	OMIM:118210
HP:0000118	Phenotypic abnormality	11261	CHP1	OMIM:618438
HP:0000118	Phenotypic abnormality	8106	PABPN1	OMIM:164300
HP:0000118	Phenotypic abnormality	19	ABCA1	ORPHA:31150
HP:0000118	Phenotypic abnormality	3300	DNAJB2	OMIM:614881
HP:0000118	Phenotypic abnormality	7317	UBA1	ORPHA:1145
HP:0000118	Phenotypic abnormality	26353	HSPB8	OMIM:608673
HP:0000118	Phenotypic abnormality	26353	HSPB8	OMIM:158590
HP:0000118	Phenotypic abnormality	23479	ISCU	OMIM:255125
HP:0000118	Phenotypic abnormality	79628	SH3TC2	OMIM:601596
HP:0000118	Phenotypic abnormality	79628	SH3TC2	ORPHA:99949
HP:0000118	Phenotypic abnormality	23534	TNPO3	OMIM:608423
HP:0000118	Phenotypic abnormality	1785	DNM2	OMIM:606482
HP:0000118	Phenotypic abnormality	8729	GBF1	OMIM:606483
HP:0000118	Phenotypic abnormality	55906	ZC4H2	OMIM:301041
HP:0000118	Phenotypic abnormality	127833	SYT2	OMIM:616040
HP:0000118	Phenotypic abnormality	1305	COL13A1	OMIM:616720
HP:0000118	Phenotypic abnormality	90678	LRSAM1	OMIM:614436
HP:0000118	Phenotypic abnormality	7084	TK2	ORPHA:254875
HP:0000118	Phenotypic abnormality	3035	HARS1	OMIM:616625
HP:0000118	Phenotypic abnormality	2992	GYG1	OMIM:616199
HP:0000118	Phenotypic abnormality	64423	INF2	OMIM:614455
HP:0000118	Phenotypic abnormality	89874	SLC25A21	OMIM:618811
HP:0000118	Phenotypic abnormality	9531	BAG3	OMIM:612954
HP:0000118	Phenotypic abnormality	28982	FLVCR1	OMIM:609033
HP:0000118	Phenotypic abnormality	65260	COA7	OMIM:618387
HP:0000118	Phenotypic abnormality	10755	GIPC1	OMIM:618940
HP:0000118	Phenotypic abnormality	1639	DCTN1	OMIM:607641
HP:0000118	Phenotypic abnormality	5375	PMP2	OMIM:618279
HP:0000118	Phenotypic abnormality	1674	DES	OMIM:601419
HP:0000118	Phenotypic abnormality	8292	COLQ	ORPHA:98915
HP:0000118	Phenotypic abnormality	3913	LAMB2	ORPHA:98915
HP:0000118	Phenotypic abnormality	6663	SOX10	OMIM:609136
HP:0000118	Phenotypic abnormality	3710	ITPR3	OMIM:620111
HP:0000118	Phenotypic abnormality	9516	LITAF	OMIM:601098
HP:0000118	Phenotypic abnormality	26092	TOR1AIP1	OMIM:617072
HP:0000118	Phenotypic abnormality	3920	LAMP2	OMIM:300257
HP:0000118	Phenotypic abnormality	283	ANG	OMIM:611895
HP:0000118	Phenotypic abnormality	79784	MYH14	OMIM:614369
HP:0000118	Phenotypic abnormality	8139	GAN	ORPHA:643
HP:0000118	Phenotypic abnormality	8139	GAN	OMIM:256850
HP:0000118	Phenotypic abnormality	4668	NAGA	OMIM:609242
HP:0000118	Phenotypic abnormality	16	AARS1	OMIM:613287
HP:0000118	Phenotypic abnormality	1371	CPOX	ORPHA:79273
HP:0000118	Phenotypic abnormality	3145	HMBS	ORPHA:79276
HP:0000118	Phenotypic abnormality	50846	DHH	ORPHA:168563
HP:0000118	Phenotypic abnormality	1161	ERCC8	ORPHA:90324
HP:0000118	Phenotypic abnormality	2074	ERCC6	ORPHA:90324
HP:0000118	Phenotypic abnormality	727676	SNORD118	ORPHA:542310
HP:0000118	Phenotypic abnormality	6575	SLC20A2	OMIM:213600
HP:0000118	Phenotypic abnormality	5155	PDGFB	OMIM:213600
HP:0000118	Phenotypic abnormality	1203	CLN5	ORPHA:228360
HP:0000118	Phenotypic abnormality	3975	LHX1	ORPHA:261265
HP:0000118	Phenotypic abnormality	6928	HNF1B	ORPHA:261265
HP:0000118	Phenotypic abnormality	79853	TM4SF20	OMIM:615432
HP:0000118	Phenotypic abnormality	6696	SPP1	ORPHA:93552
HP:0000118	Phenotypic abnormality	3654	IRAK1	ORPHA:93552
HP:0000118	Phenotypic abnormality	27286	SRPX2	ORPHA:98889
HP:0000118	Phenotypic abnormality	5631	PRPS1	ORPHA:99014
HP:0000118	Phenotypic abnormality	4854	NOTCH3	ORPHA:136
HP:0000118	Phenotypic abnormality	55777	MBD5	OMIM:156200
HP:0000118	Phenotypic abnormality	27086	FOXP1	OMIM:613670
HP:0000118	Phenotypic abnormality	201163	FLCN	OMIM:610883
HP:0000118	Phenotypic abnormality	5664	PSEN2	ORPHA:1020
HP:0000118	Phenotypic abnormality	10452	TOMM40	ORPHA:1020
HP:0000118	Phenotypic abnormality	351	APP	ORPHA:1020
HP:0000118	Phenotypic abnormality	10347	ABCA7	ORPHA:1020
HP:0000118	Phenotypic abnormality	6653	SORL1	ORPHA:1020
HP:0000118	Phenotypic abnormality	1641	DCX	ORPHA:2148
HP:0000118	Phenotypic abnormality	5621	PRNP	ORPHA:282166
HP:0000118	Phenotypic abnormality	11160	ERLIN2	ORPHA:247604
HP:0000118	Phenotypic abnormality	84188	FAR1	ORPHA:447753
HP:0000118	Phenotypic abnormality	353116	RILPL1	OMIM:619790
HP:0000118	Phenotypic abnormality	11253	MAN1B1	ORPHA:397941
HP:0000118	Phenotypic abnormality	57459	GATAD2B	OMIM:615074
HP:0000118	Phenotypic abnormality	57459	GATAD2B	ORPHA:363686
HP:0000118	Phenotypic abnormality	55823	VPS11	OMIM:616683
HP:0000118	Phenotypic abnormality	55823	VPS11	ORPHA:466934
HP:0000118	Phenotypic abnormality	2132	EXT2	OMIM:616682
HP:0000118	Phenotypic abnormality	51126	NAA20	OMIM:619717
HP:0000118	Phenotypic abnormality	132	ADK	OMIM:614300
HP:0000118	Phenotypic abnormality	25821	MTO1	OMIM:614702
HP:0000118	Phenotypic abnormality	6418	SET	OMIM:618106
HP:0000118	Phenotypic abnormality	7109	TRAPPC10	OMIM:620027
HP:0000118	Phenotypic abnormality	79796	ALG9	OMIM:608776
HP:0000118	Phenotypic abnormality	5279	PIGC	OMIM:617816
HP:0000118	Phenotypic abnormality	3190	HNRNPK	ORPHA:453504
HP:0000118	Phenotypic abnormality	3190	HNRNPK	OMIM:616580
HP:0000118	Phenotypic abnormality	3190	HNRNPK	ORPHA:352665
HP:0000118	Phenotypic abnormality	1120	CHKB	OMIM:602541
HP:0000118	Phenotypic abnormality	57165	GJC2	OMIM:608804
HP:0000118	Phenotypic abnormality	7707	ZNF148	OMIM:617260
HP:0000118	Phenotypic abnormality	2593	GAMT	ORPHA:382
HP:0000118	Phenotypic abnormality	6873	TAF2	ORPHA:397951
HP:0000118	Phenotypic abnormality	1436	CSF1R	OMIM:618476
HP:0000118	Phenotypic abnormality	6616	SNAP25	OMIM:616330
HP:0000118	Phenotypic abnormality	790	CAD	OMIM:616457
HP:0000118	Phenotypic abnormality	84197	POMK	OMIM:615249
HP:0000118	Phenotypic abnormality	11152	WDR45	ORPHA:329284
HP:0000118	Phenotypic abnormality	11152	WDR45	OMIM:300894
HP:0000118	Phenotypic abnormality	26224	FBXL3	OMIM:606220
HP:0000118	Phenotypic abnormality	6904	TBCD	ORPHA:496641
HP:0000118	Phenotypic abnormality	90161	HS6ST2	OMIM:301025
HP:0000118	Phenotypic abnormality	29925	GMPPB	ORPHA:370968
HP:0000118	Phenotypic abnormality	79147	FKRP	ORPHA:370968
HP:0000118	Phenotypic abnormality	29954	POMT2	ORPHA:370968
HP:0000118	Phenotypic abnormality	9215	LARGE1	ORPHA:370968
HP:0000118	Phenotypic abnormality	10585	POMT1	ORPHA:370968
HP:0000118	Phenotypic abnormality	7337	UBE3A	ORPHA:98794
HP:0000118	Phenotypic abnormality	7337	UBE3A	ORPHA:98795
HP:0000118	Phenotypic abnormality	7337	UBE3A	ORPHA:411515
HP:0000118	Phenotypic abnormality	4948	OCA2	ORPHA:98794
HP:0000118	Phenotypic abnormality	10559	SLC35A1	OMIM:603585
HP:0000118	Phenotypic abnormality	51116	MRPS2	OMIM:617950
HP:0000118	Phenotypic abnormality	5119	CHMP1A	OMIM:614961
HP:0000118	Phenotypic abnormality	1757	SARDH	ORPHA:3129
HP:0000118	Phenotypic abnormality	7436	VLDLR	OMIM:224050
HP:0000118	Phenotypic abnormality	93986	FOXP2	ORPHA:209908
HP:0000118	Phenotypic abnormality	93627	TBCK	OMIM:616900
HP:0000118	Phenotypic abnormality	116442	RAB39B	OMIM:311510
HP:0000118	Phenotypic abnormality	83480	PUS3	ORPHA:488627
HP:0000118	Phenotypic abnormality	56776	FMN2	OMIM:616193
HP:0000118	Phenotypic abnormality	7319	UBE2A	OMIM:300860
HP:0000118	Phenotypic abnormality	7319	UBE2A	ORPHA:163956
HP:0000118	Phenotypic abnormality	1605	DAG1	ORPHA:280333
HP:0000118	Phenotypic abnormality	5283	PIGH	OMIM:618010
HP:0000118	Phenotypic abnormality	2257	FGF12	OMIM:617166
HP:0000118	Phenotypic abnormality	3340	NDST1	OMIM:616116
HP:0000118	Phenotypic abnormality	1729	DIAPH1	OMIM:616632
HP:0000118	Phenotypic abnormality	84342	COG8	ORPHA:95428
HP:0000118	Phenotypic abnormality	28514	DLL1	ORPHA:93926
HP:0000118	Phenotypic abnormality	28514	DLL1	ORPHA:93924
HP:0000118	Phenotypic abnormality	28514	DLL1	ORPHA:93925
HP:0000118	Phenotypic abnormality	28514	DLL1	ORPHA:220386
HP:0000118	Phenotypic abnormality	2253	FGF8	ORPHA:93926
HP:0000118	Phenotypic abnormality	2253	FGF8	ORPHA:93924
HP:0000118	Phenotypic abnormality	2253	FGF8	ORPHA:93925
HP:0000118	Phenotypic abnormality	2253	FGF8	ORPHA:220386
HP:0000118	Phenotypic abnormality	6496	SIX3	ORPHA:93926
HP:0000118	Phenotypic abnormality	6496	SIX3	ORPHA:93924
HP:0000118	Phenotypic abnormality	6496	SIX3	ORPHA:93925
HP:0000118	Phenotypic abnormality	6496	SIX3	ORPHA:220386
HP:0000118	Phenotypic abnormality	7050	TGIF1	ORPHA:93926
HP:0000118	Phenotypic abnormality	7050	TGIF1	ORPHA:93924
HP:0000118	Phenotypic abnormality	7050	TGIF1	ORPHA:93925
HP:0000118	Phenotypic abnormality	7050	TGIF1	ORPHA:220386
HP:0000118	Phenotypic abnormality	4838	NODAL	ORPHA:93926
HP:0000118	Phenotypic abnormality	4838	NODAL	ORPHA:93924
HP:0000118	Phenotypic abnormality	4838	NODAL	ORPHA:93925
HP:0000118	Phenotypic abnormality	4838	NODAL	ORPHA:220386
HP:0000118	Phenotypic abnormality	7546	ZIC2	ORPHA:93926
HP:0000118	Phenotypic abnormality	7546	ZIC2	ORPHA:93924
HP:0000118	Phenotypic abnormality	7546	ZIC2	ORPHA:93925
HP:0000118	Phenotypic abnormality	7546	ZIC2	ORPHA:220386
HP:0000118	Phenotypic abnormality	6491	STIL	ORPHA:93926
HP:0000118	Phenotypic abnormality	6491	STIL	ORPHA:93924
HP:0000118	Phenotypic abnormality	6491	STIL	ORPHA:93925
HP:0000118	Phenotypic abnormality	6491	STIL	ORPHA:220386
HP:0000118	Phenotypic abnormality	2619	GAS1	ORPHA:93926
HP:0000118	Phenotypic abnormality	2619	GAS1	ORPHA:93924
HP:0000118	Phenotypic abnormality	2619	GAS1	ORPHA:93925
HP:0000118	Phenotypic abnormality	2619	GAS1	ORPHA:220386
HP:0000118	Phenotypic abnormality	84976	DISP1	ORPHA:93926
HP:0000118	Phenotypic abnormality	84976	DISP1	ORPHA:93924
HP:0000118	Phenotypic abnormality	84976	DISP1	ORPHA:93925
HP:0000118	Phenotypic abnormality	84976	DISP1	ORPHA:220386
HP:0000118	Phenotypic abnormality	8928	FOXH1	ORPHA:93926
HP:0000118	Phenotypic abnormality	8928	FOXH1	ORPHA:93924
HP:0000118	Phenotypic abnormality	8928	FOXH1	ORPHA:93925
HP:0000118	Phenotypic abnormality	8928	FOXH1	ORPHA:220386
HP:0000118	Phenotypic abnormality	50937	CDON	ORPHA:93926
HP:0000118	Phenotypic abnormality	50937	CDON	ORPHA:93924
HP:0000118	Phenotypic abnormality	50937	CDON	ORPHA:93925
HP:0000118	Phenotypic abnormality	50937	CDON	ORPHA:220386
HP:0000118	Phenotypic abnormality	8635	RNASET2	OMIM:612951
HP:0000118	Phenotypic abnormality	23007	PLCH1	ORPHA:93925
HP:0000118	Phenotypic abnormality	10735	STAG2	ORPHA:93925
HP:0000118	Phenotypic abnormality	10735	STAG2	ORPHA:220386
HP:0000118	Phenotypic abnormality	10382	TUBB4A	OMIM:612438
HP:0000118	Phenotypic abnormality	388662	SLC6A17	ORPHA:457212
HP:0000118	Phenotypic abnormality	5063	PAK3	OMIM:300558
HP:0000118	Phenotypic abnormality	163786	SASS6	OMIM:616402
HP:0000118	Phenotypic abnormality	4983	OPHN1	ORPHA:137831
HP:0000118	Phenotypic abnormality	85440	DOCK7	ORPHA:411986
HP:0000118	Phenotypic abnormality	26047	CNTNAP2	ORPHA:163681
HP:0000118	Phenotypic abnormality	26047	CNTNAP2	OMIM:610042
HP:0000118	Phenotypic abnormality	1737	DLAT	OMIM:245348
HP:0000118	Phenotypic abnormality	5058	PAK1	OMIM:618158
HP:0000118	Phenotypic abnormality	2232	FDXR	ORPHA:543470
HP:0000118	Phenotypic abnormality	57570	TRMT5	OMIM:616539
HP:0000118	Phenotypic abnormality	54112	GPR88	OMIM:616939
HP:0000118	Phenotypic abnormality	93587	TRMT10A	ORPHA:391408
HP:0000118	Phenotypic abnormality	84919	PPP1R15B	ORPHA:391408
HP:0000118	Phenotypic abnormality	55691	FRMD4A	ORPHA:466688
HP:0000118	Phenotypic abnormality	10717	AP4B1	ORPHA:280763
HP:0000118	Phenotypic abnormality	11154	AP4S1	ORPHA:280763
HP:0000118	Phenotypic abnormality	23431	AP4E1	ORPHA:280763
HP:0000118	Phenotypic abnormality	4841	NONO	ORPHA:466791
HP:0000118	Phenotypic abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0000118	Phenotypic abnormality	523	ATP6V1A	ORPHA:357074
HP:0000118	Phenotypic abnormality	5528	PPP2R5D	ORPHA:457279
HP:0000118	Phenotypic abnormality	55084	SOBP	OMIM:613671
HP:0000118	Phenotypic abnormality	476	ATP1A1	ORPHA:564178
HP:0000118	Phenotypic abnormality	2990	GUSB	OMIM:253220
HP:0000118	Phenotypic abnormality	9928	KIF14	OMIM:617914
HP:0000118	Phenotypic abnormality	5879	RAC1	ORPHA:500159
HP:0000118	Phenotypic abnormality	162417	NAGS	ORPHA:927
HP:0000118	Phenotypic abnormality	3458	IFNG	ORPHA:805
HP:0000118	Phenotypic abnormality	7248	TSC1	ORPHA:805
HP:0000118	Phenotypic abnormality	7249	TSC2	ORPHA:805
HP:0000118	Phenotypic abnormality	11043	MID2	OMIM:300928
HP:0000118	Phenotypic abnormality	9757	KMT2B	OMIM:619934
HP:0000118	Phenotypic abnormality	54936	ADPRS	OMIM:618170
HP:0000118	Phenotypic abnormality	26100	WIPI2	OMIM:618453
HP:0000118	Phenotypic abnormality	8295	TRRAP	OMIM:618454
HP:0000118	Phenotypic abnormality	341208	HEPHL1	OMIM:261990
HP:0000118	Phenotypic abnormality	4281	MID1	ORPHA:2745
HP:0000118	Phenotypic abnormality	6878	TAF6	OMIM:617126
HP:0000118	Phenotypic abnormality	5518	PPP2R1A	ORPHA:457284
HP:0000118	Phenotypic abnormality	57194	ATP10A	ORPHA:411515
HP:0000118	Phenotypic abnormality	22	ABCB7	OMIM:301310
HP:0000118	Phenotypic abnormality	131118	DNAJC19	OMIM:610198
HP:0000118	Phenotypic abnormality	3708	ITPR1	OMIM:117360
HP:0000118	Phenotypic abnormality	5457	POU4F1	ORPHA:314647
HP:0000118	Phenotypic abnormality	23261	CAMTA1	ORPHA:314647
HP:0000118	Phenotypic abnormality	85300	ATCAY	ORPHA:94122
HP:0000118	Phenotypic abnormality	55280	CWF19L1	ORPHA:453521
HP:0000118	Phenotypic abnormality	55835	CENPJ	OMIM:608393
HP:0000118	Phenotypic abnormality	259266	ASPM	OMIM:608716
HP:0000118	Phenotypic abnormality	8621	CDK13	OMIM:617360
HP:0000118	Phenotypic abnormality	55755	CDK5RAP2	OMIM:604804
HP:0000118	Phenotypic abnormality	79648	MCPH1	OMIM:251200
HP:0000118	Phenotypic abnormality	63925	ZNF335	ORPHA:329228
HP:0000118	Phenotypic abnormality	644096	SDHAF1	ORPHA:3208
HP:0000118	Phenotypic abnormality	9439	MED23	OMIM:614249
HP:0000118	Phenotypic abnormality	8085	KMT2D	OMIM:620186
HP:0000118	Phenotypic abnormality	27245	AHDC1	ORPHA:412069
HP:0000118	Phenotypic abnormality	55186	SLC25A36	OMIM:620211
HP:0000118	Phenotypic abnormality	60529	ALX4	ORPHA:60015
HP:0000118	Phenotypic abnormality	168667	BMPER	ORPHA:66637
HP:0000118	Phenotypic abnormality	57216	VANGL2	OMIM:182940
HP:0000118	Phenotypic abnormality	6347	CCL2	OMIM:182940
HP:0000118	Phenotypic abnormality	81839	VANGL1	OMIM:182940
HP:0000118	Phenotypic abnormality	81839	VANGL1	OMIM:600145
HP:0000118	Phenotypic abnormality	6862	TBXT	OMIM:182940
HP:0000118	Phenotypic abnormality	80199	FUZ	OMIM:182940
HP:0000118	Phenotypic abnormality	80199	FUZ	ORPHA:1136
HP:0000118	Phenotypic abnormality	10093	ARPC4	OMIM:620141
HP:0000118	Phenotypic abnormality	6628	SNRPB	ORPHA:1393
HP:0000118	Phenotypic abnormality	84667	HES7	OMIM:613686
HP:0000118	Phenotypic abnormality	10984	KCNQ1OT1	ORPHA:2128
HP:0000118	Phenotypic abnormality	283120	H19	ORPHA:2128
HP:0000118	Phenotypic abnormality	51324	SPG21	OMIM:248900
HP:0000118	Phenotypic abnormality	51324	SPG21	ORPHA:101001
HP:0000118	Phenotypic abnormality	8818	DPM2	OMIM:615042
HP:0000118	Phenotypic abnormality	8722	CTSF	OMIM:615362
HP:0000118	Phenotypic abnormality	6487	ST3GAL3	OMIM:615006
HP:0000118	Phenotypic abnormality	22931	RAB18	OMIM:614222
HP:0000118	Phenotypic abnormality	57338	JPH3	ORPHA:98934
HP:0000118	Phenotypic abnormality	23400	ATP13A2	ORPHA:513436
HP:0000118	Phenotypic abnormality	5354	PLP1	ORPHA:280234
HP:0000118	Phenotypic abnormality	5354	PLP1	OMIM:312080
HP:0000118	Phenotypic abnormality	54	ACP5	OMIM:607944
HP:0000118	Phenotypic abnormality	2760	GM2A	ORPHA:309246
HP:0000118	Phenotypic abnormality	79152	FA2H	ORPHA:329308
HP:0000118	Phenotypic abnormality	6711	SPTBN1	OMIM:619475
HP:0000118	Phenotypic abnormality	133686	NADK2	ORPHA:431361
HP:0000118	Phenotypic abnormality	383	ARG1	OMIM:207800
HP:0000118	Phenotypic abnormality	383	ARG1	ORPHA:90
HP:0000118	Phenotypic abnormality	5048	PAFAH1B1	ORPHA:95232
HP:0000118	Phenotypic abnormality	1738	DLD	ORPHA:2394
HP:0000118	Phenotypic abnormality	60561	RINT1	OMIM:618641
HP:0000118	Phenotypic abnormality	57169	ZNFX1	OMIM:619644
HP:0000118	Phenotypic abnormality	5105	PCK1	OMIM:261680
HP:0000118	Phenotypic abnormality	54914	FOCAD	OMIM:619991
HP:0000118	Phenotypic abnormality	7289	TULP3	OMIM:619902
HP:0000118	Phenotypic abnormality	10165	SLC25A13	ORPHA:247585
HP:0000118	Phenotypic abnormality	331	XIAP	OMIM:308240
HP:0000118	Phenotypic abnormality	4068	SH2D1A	OMIM:308240
HP:0000118	Phenotypic abnormality	9451	EIF2AK3	ORPHA:1667
HP:0000118	Phenotypic abnormality	410	ARSA	ORPHA:309271
HP:0000118	Phenotypic abnormality	6261	RYR1	ORPHA:597
HP:0000118	Phenotypic abnormality	65055	REEP1	ORPHA:101011
HP:0000118	Phenotypic abnormality	9782	MATR3	OMIM:606070
HP:0000118	Phenotypic abnormality	84665	MYPN	ORPHA:171439
HP:0000118	Phenotypic abnormality	390594	KBTBD13	ORPHA:171439
HP:0000118	Phenotypic abnormality	7170	TPM3	ORPHA:171439
HP:0000118	Phenotypic abnormality	6507	SLC1A3	ORPHA:2131
HP:0000118	Phenotypic abnormality	477	ATP1A2	ORPHA:2131
HP:0000118	Phenotypic abnormality	478	ATP1A3	ORPHA:2131
HP:0000118	Phenotypic abnormality	478	ATP1A3	OMIM:128235
HP:0000118	Phenotypic abnormality	8398	PLA2G6	ORPHA:35069
HP:0000118	Phenotypic abnormality	80208	SPG11	OMIM:602099
HP:0000118	Phenotypic abnormality	80208	SPG11	ORPHA:300605
HP:0000118	Phenotypic abnormality	9217	VAPB	OMIM:608627
HP:0000118	Phenotypic abnormality	4535	MT-ND1	ORPHA:255210
HP:0000118	Phenotypic abnormality	4536	MT-ND2	ORPHA:255210
HP:0000118	Phenotypic abnormality	4537	MT-ND3	ORPHA:255210
HP:0000118	Phenotypic abnormality	4538	MT-ND4	ORPHA:255210
HP:0000118	Phenotypic abnormality	4567	MT-TL1	ORPHA:255210
HP:0000118	Phenotypic abnormality	4578	MT-TW	ORPHA:255210
HP:0000118	Phenotypic abnormality	4577	MT-TV	ORPHA:255210
HP:0000118	Phenotypic abnormality	4508	MT-ATP6	ORPHA:255210
HP:0000118	Phenotypic abnormality	4540	MT-ND5	ORPHA:255210
HP:0000118	Phenotypic abnormality	4541	MT-ND6	ORPHA:255210
HP:0000118	Phenotypic abnormality	4566	MT-TK	ORPHA:255210
HP:0000118	Phenotypic abnormality	2521	FUS	ORPHA:300605
HP:0000118	Phenotypic abnormality	10280	SIGMAR1	ORPHA:300605
HP:0000118	Phenotypic abnormality	10558	SPTLC1	ORPHA:300605
HP:0000118	Phenotypic abnormality	57679	ALS2	ORPHA:300605
HP:0000118	Phenotypic abnormality	2629	GBA1	OMIM:230900
HP:0000118	Phenotypic abnormality	2934	GSN	ORPHA:85448
HP:0000118	Phenotypic abnormality	2670	GFAP	OMIM:203450
HP:0000118	Phenotypic abnormality	10342	TFG	ORPHA:90117
HP:0000118	Phenotypic abnormality	400916	CHCHD10	ORPHA:276435
HP:0000118	Phenotypic abnormality	23516	SLC39A14	ORPHA:521406
HP:0000118	Phenotypic abnormality	6310	ATXN1	ORPHA:98755
HP:0000118	Phenotypic abnormality	487	ATP2A1	OMIM:601003
HP:0000118	Phenotypic abnormality	5213	PFKM	ORPHA:371
HP:0000118	Phenotypic abnormality	7345	UCHL1	OMIM:615491
HP:0000118	Phenotypic abnormality	6329	SCN4A	OMIM:170400
HP:0000118	Phenotypic abnormality	6329	SCN4A	OMIM:170500
HP:0000118	Phenotypic abnormality	6329	SCN4A	OMIM:608390
HP:0000118	Phenotypic abnormality	6329	SCN4A	ORPHA:99735
HP:0000118	Phenotypic abnormality	6329	SCN4A	ORPHA:99736
HP:0000118	Phenotypic abnormality	6329	SCN4A	ORPHA:684
HP:0000118	Phenotypic abnormality	6329	SCN4A	ORPHA:682
HP:0000118	Phenotypic abnormality	6329	SCN4A	ORPHA:681
HP:0000118	Phenotypic abnormality	6329	SCN4A	OMIM:613345
HP:0000118	Phenotypic abnormality	779	CACNA1S	OMIM:170400
HP:0000118	Phenotypic abnormality	779	CACNA1S	ORPHA:79102
HP:0000118	Phenotypic abnormality	779	CACNA1S	ORPHA:681
HP:0000118	Phenotypic abnormality	203547	VMA21	OMIM:310440
HP:0000118	Phenotypic abnormality	7555	CNBP	ORPHA:606
HP:0000118	Phenotypic abnormality	7555	CNBP	OMIM:602668
HP:0000118	Phenotypic abnormality	1180	CLCN1	OMIM:255700
HP:0000118	Phenotypic abnormality	1180	CLCN1	ORPHA:614
HP:0000118	Phenotypic abnormality	1180	CLCN1	OMIM:160800
HP:0000118	Phenotypic abnormality	100134444	KCNJ18	ORPHA:79102
HP:0000118	Phenotypic abnormality	2556	GABRA3	ORPHA:79102
HP:0000118	Phenotypic abnormality	2010	EMD	ORPHA:98863
HP:0000118	Phenotypic abnormality	773	CACNA1A	OMIM:108500
HP:0000118	Phenotypic abnormality	3339	HSPG2	ORPHA:800
HP:0000118	Phenotypic abnormality	10008	KCNE3	ORPHA:681
HP:0000118	Phenotypic abnormality	1760	DMPK	ORPHA:589821
HP:0000118	Phenotypic abnormality	1760	DMPK	OMIM:160900
HP:0000118	Phenotypic abnormality	4000	LMNA	ORPHA:98855
HP:0000118	Phenotypic abnormality	4000	LMNA	ORPHA:98853
HP:0000118	Phenotypic abnormality	79188	TMEM43	ORPHA:98853
HP:0000118	Phenotypic abnormality	23224	SYNE2	ORPHA:98853
HP:0000118	Phenotypic abnormality	80185	TTI2	ORPHA:391307
HP:0000118	Phenotypic abnormality	55768	NGLY1	OMIM:615273
HP:0000118	Phenotypic abnormality	55768	NGLY1	ORPHA:404454
HP:0000118	Phenotypic abnormality	2775	GNAO1	OMIM:617493
HP:0000118	Phenotypic abnormality	57187	THOC2	OMIM:300957
HP:0000118	Phenotypic abnormality	57187	THOC2	ORPHA:457240
HP:0000118	Phenotypic abnormality	60684	TRAPPC11	OMIM:615356
HP:0000118	Phenotypic abnormality	60684	TRAPPC11	ORPHA:369847
HP:0000118	Phenotypic abnormality	6531	SLC6A3	OMIM:613135
HP:0000118	Phenotypic abnormality	7701	ZNF142	OMIM:618425
HP:0000118	Phenotypic abnormality	6323	SCN1A	OMIM:619317
HP:0000118	Phenotypic abnormality	2643	GCH1	OMIM:233910
HP:0000118	Phenotypic abnormality	10846	PDE10A	OMIM:616921
HP:0000118	Phenotypic abnormality	25914	RTTN	ORPHA:468631
HP:0000118	Phenotypic abnormality	4552	MTRR	OMIM:236270
HP:0000118	Phenotypic abnormality	2571	GAD1	OMIM:619124
HP:0000118	Phenotypic abnormality	6857	SYT1	ORPHA:522077
HP:0000118	Phenotypic abnormality	6857	SYT1	OMIM:618218
HP:0000118	Phenotypic abnormality	10730	YME1L1	OMIM:617302
HP:0000118	Phenotypic abnormality	5660	PSAP	OMIM:611721
HP:0000118	Phenotypic abnormality	29920	PYCR2	OMIM:616420
HP:0000118	Phenotypic abnormality	23732	FRRS1L	OMIM:616981
HP:0000118	Phenotypic abnormality	23732	FRRS1L	ORPHA:725
HP:0000118	Phenotypic abnormality	777	CACNA1E	OMIM:618285
HP:0000118	Phenotypic abnormality	816	CAMK2B	OMIM:617799
HP:0000118	Phenotypic abnormality	10352	WARS2	OMIM:619738
HP:0000118	Phenotypic abnormality	2903	GRIN2A	ORPHA:725
HP:0000118	Phenotypic abnormality	10020	GNE	ORPHA:3166
HP:0000118	Phenotypic abnormality	5805	PTS	ORPHA:13
HP:0000118	Phenotypic abnormality	23096	IQSEC2	ORPHA:397933
HP:0000118	Phenotypic abnormality	774	CACNA1B	OMIM:618497
HP:0000118	Phenotypic abnormality	81570	CLPB	OMIM:616271
HP:0000118	Phenotypic abnormality	8802	SUCLG1	ORPHA:17
HP:0000118	Phenotypic abnormality	2902	GRIN1	OMIM:614254
HP:0000118	Phenotypic abnormality	8803	SUCLA2	OMIM:612073
HP:0000118	Phenotypic abnormality	4761	NEUROD2	OMIM:618374
HP:0000118	Phenotypic abnormality	23230	VPS13A	ORPHA:2388
HP:0000118	Phenotypic abnormality	6326	SCN2A	OMIM:613721
HP:0000118	Phenotypic abnormality	7915	ALDH5A1	OMIM:271980
HP:0000118	Phenotypic abnormality	112476	PRRT2	ORPHA:98810
HP:0000118	Phenotypic abnormality	25953	PNKD	ORPHA:98810
HP:0000118	Phenotypic abnormality	3028	HSD17B10	ORPHA:391428
HP:0000118	Phenotypic abnormality	5566	PRKACA	ORPHA:289
HP:0000118	Phenotypic abnormality	5567	PRKACB	ORPHA:289
HP:0000118	Phenotypic abnormality	2121	EVC	ORPHA:289
HP:0000118	Phenotypic abnormality	51626	DYNC2LI1	ORPHA:289
HP:0000118	Phenotypic abnormality	132884	EVC2	ORPHA:289
HP:0000118	Phenotypic abnormality	10019	SH2B3	ORPHA:3318
HP:0000118	Phenotypic abnormality	412	STS	ORPHA:281090
HP:0000118	Phenotypic abnormality	7454	WAS	ORPHA:906
HP:0000118	Phenotypic abnormality	7456	WIPF1	ORPHA:906
HP:0000118	Phenotypic abnormality	7518	XRCC4	ORPHA:99812
HP:0000118	Phenotypic abnormality	3981	LIG4	ORPHA:99812
HP:0000118	Phenotypic abnormality	54209	TREM2	ORPHA:2770
HP:0000118	Phenotypic abnormality	4683	NBN	ORPHA:647
HP:0000118	Phenotypic abnormality	4702	NDUFA8	OMIM:619272
HP:0000118	Phenotypic abnormality	9997	SCO2	OMIM:604377
HP:0000118	Phenotypic abnormality	9997	SCO2	ORPHA:70474
HP:0000118	Phenotypic abnormality	4558	MT-TF	ORPHA:550
HP:0000118	Phenotypic abnormality	4572	MT-TQ	ORPHA:550
HP:0000118	Phenotypic abnormality	4512	MT-CO1	ORPHA:550
HP:0000118	Phenotypic abnormality	4513	MT-CO2	ORPHA:550
HP:0000118	Phenotypic abnormality	4514	MT-CO3	ORPHA:550
HP:0000118	Phenotypic abnormality	4574	MT-TS1	ORPHA:550
HP:0000118	Phenotypic abnormality	4574	MT-TS1	OMIM:220110
HP:0000118	Phenotypic abnormality	4575	MT-TS2	ORPHA:550
HP:0000118	Phenotypic abnormality	4564	MT-TH	ORPHA:550
HP:0000118	Phenotypic abnormality	57128	LYRM4	OMIM:615595
HP:0000118	Phenotypic abnormality	4570	MT-TN	OMIM:220110
HP:0000118	Phenotypic abnormality	6834	SURF1	OMIM:220110
HP:0000118	Phenotypic abnormality	6834	SURF1	ORPHA:70474
HP:0000118	Phenotypic abnormality	6834	SURF1	ORPHA:255241
HP:0000118	Phenotypic abnormality	64849	SLC13A3	OMIM:618384
HP:0000118	Phenotypic abnormality	92609	TIMM50	OMIM:617698
HP:0000118	Phenotypic abnormality	10059	DNM1L	OMIM:614388
HP:0000118	Phenotypic abnormality	85476	GFM1	OMIM:609060
HP:0000118	Phenotypic abnormality	4191	MDH2	OMIM:617339
HP:0000118	Phenotypic abnormality	84334	COA8	ORPHA:436271
HP:0000118	Phenotypic abnormality	90624	LYRM7	OMIM:615838
HP:0000118	Phenotypic abnormality	123263	MTFMT	OMIM:614947
HP:0000118	Phenotypic abnormality	123263	MTFMT	ORPHA:255241
HP:0000118	Phenotypic abnormality	8659	ALDH4A1	ORPHA:79101
HP:0000118	Phenotypic abnormality	10667	FARS2	OMIM:614946
HP:0000118	Phenotypic abnormality	8050	PDHX	ORPHA:255182
HP:0000118	Phenotypic abnormality	4714	NDUFB8	ORPHA:70474
HP:0000118	Phenotypic abnormality	4714	NDUFB8	OMIM:618252
HP:0000118	Phenotypic abnormality	51112	TRAPPC12	ORPHA:500144
HP:0000118	Phenotypic abnormality	128240	NAXE	OMIM:617186
HP:0000118	Phenotypic abnormality	291	SLC25A4	OMIM:617184
HP:0000118	Phenotypic abnormality	291	SLC25A4	OMIM:615418
HP:0000118	Phenotypic abnormality	65993	MRPS34	OMIM:617664
HP:0000118	Phenotypic abnormality	25828	TXN2	ORPHA:478029
HP:0000118	Phenotypic abnormality	25828	TXN2	OMIM:616811
HP:0000118	Phenotypic abnormality	5160	PDHA1	OMIM:312170
HP:0000118	Phenotypic abnormality	5160	PDHA1	ORPHA:255241
HP:0000118	Phenotypic abnormality	5160	PDHA1	ORPHA:79243
HP:0000118	Phenotypic abnormality	56997	COQ8A	ORPHA:139485
HP:0000118	Phenotypic abnormality	56997	COQ8A	OMIM:612016
HP:0000118	Phenotypic abnormality	1352	COX10	OMIM:619046
HP:0000118	Phenotypic abnormality	84340	GFM2	OMIM:618397
HP:0000118	Phenotypic abnormality	84340	GFM2	ORPHA:565624
HP:0000118	Phenotypic abnormality	54931	TRMT10C	OMIM:616974
HP:0000118	Phenotypic abnormality	539	ATP5PO	OMIM:620359
HP:0000118	Phenotypic abnormality	57038	RARS2	OMIM:611523
HP:0000118	Phenotypic abnormality	4204	MECP2	ORPHA:778
HP:0000118	Phenotypic abnormality	87178	PNPT1	ORPHA:319514
HP:0000118	Phenotypic abnormality	87178	PNPT1	OMIM:614932
HP:0000118	Phenotypic abnormality	1340	COX6B1	OMIM:619051
HP:0000118	Phenotypic abnormality	6389	SDHA	ORPHA:255241
HP:0000118	Phenotypic abnormality	80704	SLC19A3	ORPHA:255241
HP:0000118	Phenotypic abnormality	55967	NDUFA12	ORPHA:255241
HP:0000118	Phenotypic abnormality	55967	NDUFA12	OMIM:618244
HP:0000118	Phenotypic abnormality	51204	TACO1	ORPHA:255241
HP:0000118	Phenotypic abnormality	137682	NDUFAF6	ORPHA:255241
HP:0000118	Phenotypic abnormality	100131801	PET100	ORPHA:255241
HP:0000118	Phenotypic abnormality	100131801	PET100	OMIM:619055
HP:0000118	Phenotypic abnormality	1355	COX15	ORPHA:255241
HP:0000118	Phenotypic abnormality	1892	ECHS1	ORPHA:255241
HP:0000118	Phenotypic abnormality	1892	ECHS1	OMIM:616277
HP:0000118	Phenotypic abnormality	51079	NDUFA13	ORPHA:255241
HP:0000118	Phenotypic abnormality	51601	LIPT1	ORPHA:255241
HP:0000118	Phenotypic abnormality	4695	NDUFA2	ORPHA:255241
HP:0000118	Phenotypic abnormality	4697	NDUFA4	ORPHA:255241
HP:0000118	Phenotypic abnormality	4697	NDUFA4	OMIM:619065
HP:0000118	Phenotypic abnormality	4704	NDUFA9	ORPHA:255241
HP:0000118	Phenotypic abnormality	84987	COX14	OMIM:619053
HP:0000118	Phenotypic abnormality	1351	COX8A	OMIM:619059
HP:0000118	Phenotypic abnormality	116228	COX20	OMIM:619054
HP:0000118	Phenotypic abnormality	200205	IBA57	OMIM:615330
HP:0000118	Phenotypic abnormality	60386	SLC25A19	OMIM:613710
HP:0000118	Phenotypic abnormality	55005	RMND1	OMIM:614922
HP:0000118	Phenotypic abnormality	64116	SLC39A8	ORPHA:468699
HP:0000118	Phenotypic abnormality	91647	ATPAF2	OMIM:604273
HP:0000118	Phenotypic abnormality	100303755	PET117	OMIM:619063
HP:0000118	Phenotypic abnormality	27247	NFU1	OMIM:605711
HP:0000118	Phenotypic abnormality	1327	COX4I1	OMIM:619060
HP:0000118	Phenotypic abnormality	84842	HPDL	OMIM:619026
HP:0000118	Phenotypic abnormality	790955	UQCC3	OMIM:616111
HP:0000118	Phenotypic abnormality	27429	HTRA2	OMIM:617248
HP:0000118	Phenotypic abnormality	84300	UQCC2	OMIM:615824
HP:0000118	Phenotypic abnormality	79731	NARS2	OMIM:616239
HP:0000118	Phenotypic abnormality	27010	TPK1	OMIM:614458
HP:0000118	Phenotypic abnormality	10126	DNAL4	ORPHA:238722
HP:0000118	Phenotypic abnormality	9423	NTN1	ORPHA:238722
HP:0000118	Phenotypic abnormality	1630	DCC	ORPHA:238722
HP:0000118	Phenotypic abnormality	2581	GALC	ORPHA:206448
HP:0000118	Phenotypic abnormality	85465	SELENOI	ORPHA:506353
HP:0000118	Phenotypic abnormality	4524	MTHFR	ORPHA:395
HP:0000118	Phenotypic abnormality	80025	PANK2	ORPHA:216873
HP:0000118	Phenotypic abnormality	55187	VPS13D	ORPHA:95434
HP:0000118	Phenotypic abnormality	27072	VPS41	ORPHA:95434
HP:0000118	Phenotypic abnormality	3798	KIF5A	ORPHA:100991
HP:0000118	Phenotypic abnormality	54828	BCAS3	OMIM:619641
HP:0000118	Phenotypic abnormality	3074	HEXB	OMIM:268800
HP:0000118	Phenotypic abnormality	443	ASPA	ORPHA:314918
HP:0000118	Phenotypic abnormality	55131	RBM28	OMIM:612079
HP:0000118	Phenotypic abnormality	25978	CHMP2B	ORPHA:275864
HP:0000118	Phenotypic abnormality	5663	PSEN1	ORPHA:275864
HP:0000118	Phenotypic abnormality	2896	GRN	ORPHA:275864
HP:0000118	Phenotypic abnormality	8878	SQSTM1	ORPHA:275864
HP:0000118	Phenotypic abnormality	7415	VCP	ORPHA:275864
HP:0000118	Phenotypic abnormality	7415	VCP	ORPHA:52430
HP:0000118	Phenotypic abnormality	4001	LMNB1	ORPHA:99027
HP:0000118	Phenotypic abnormality	3178	HNRNPA1	ORPHA:52430
HP:0000118	Phenotypic abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0000118	Phenotypic abnormality	3060	HCRT	OMIM:161400
HP:0000118	Phenotypic abnormality	3060	HCRT	ORPHA:2073
HP:0000118	Phenotypic abnormality	1512	CTSH	ORPHA:2073
HP:0000118	Phenotypic abnormality	5032	P2RY11	ORPHA:2073
HP:0000118	Phenotypic abnormality	4340	MOG	ORPHA:2073
HP:0000118	Phenotypic abnormality	3119	HLA-DQB1	ORPHA:2073
HP:0000118	Phenotypic abnormality	22891	ZNF365	ORPHA:2073
HP:0000118	Phenotypic abnormality	7292	TNFSF4	ORPHA:2073
HP:0000118	Phenotypic abnormality	3123	HLA-DRB1	ORPHA:2073
HP:0000118	Phenotypic abnormality	27235	COQ2	ORPHA:227510
HP:0000118	Phenotypic abnormality	27235	COQ2	ORPHA:98933
HP:0000118	Phenotypic abnormality	1786	DNMT1	OMIM:604121
HP:0000118	Phenotypic abnormality	7528	YY1	ORPHA:97279
HP:0000118	Phenotypic abnormality	51128	SAR1B	OMIM:246700
HP:0000118	Phenotypic abnormality	51062	ATL1	ORPHA:100984
HP:0000118	Phenotypic abnormality	9420	CYP7B1	ORPHA:100986
HP:0000118	Phenotypic abnormality	123606	NIPA1	ORPHA:100988
HP:0000118	Phenotypic abnormality	59335	PRDM12	OMIM:616488
HP:0000118	Phenotypic abnormality	4744	NEFH	OMIM:616924
HP:0000118	Phenotypic abnormality	2617	GARS1	ORPHA:139536
HP:0000118	Phenotypic abnormality	4803	NGF	OMIM:608654
HP:0000118	Phenotypic abnormality	25894	PLEKHG4	ORPHA:98765
HP:0000118	Phenotypic abnormality	56652	TWNK	ORPHA:70595
HP:0000118	Phenotypic abnormality	724066	ATXN8	ORPHA:98760
HP:0000118	Phenotypic abnormality	6315	ATXN8OS	ORPHA:98760
HP:0000118	Phenotypic abnormality	4669	NAGLU	OMIM:616491
HP:0000118	Phenotypic abnormality	10528	NOP56	OMIM:614153
HP:0000118	Phenotypic abnormality	6652	SORD	OMIM:618912
HP:0000118	Phenotypic abnormality	5192	PEX10	OMIM:614871
HP:0000118	Phenotypic abnormality	2259	FGF14	OMIM:193003
HP:0000118	Phenotypic abnormality	146227	BEAN1	ORPHA:217012
HP:0000118	Phenotypic abnormality	10166	SLC25A15	ORPHA:415
HP:0000118	Phenotypic abnormality	10166	SLC25A15	OMIM:238970
HP:0000118	Phenotypic abnormality	137492	VPS37A	ORPHA:319199
HP:0000118	Phenotypic abnormality	137492	VPS37A	OMIM:614898
HP:0000118	Phenotypic abnormality	11284	PNKP	OMIM:616267
HP:0000118	Phenotypic abnormality	2395	FXN	OMIM:229300
HP:0000118	Phenotypic abnormality	9692	PRORP	OMIM:619737
HP:0000118	Phenotypic abnormality	4099	MAG	ORPHA:459056
HP:0000118	Phenotypic abnormality	57704	GBA2	OMIM:614409
HP:0000118	Phenotypic abnormality	4556	MT-TE	ORPHA:2596
HP:0000118	Phenotypic abnormality	4547	MTTP	ORPHA:14
HP:0000118	Phenotypic abnormality	6712	SPTBN2	OMIM:600224
HP:0000118	Phenotypic abnormality	59345	GNB4	OMIM:615185
HP:0000118	Phenotypic abnormality	5297	PI4KA	OMIM:619621
HP:0000118	Phenotypic abnormality	55775	TDP1	OMIM:607250
HP:0000118	Phenotypic abnormality	2583	B4GALNT1	OMIM:609195
HP:0000118	Phenotypic abnormality	6342	SCP2	OMIM:613724
HP:0000118	Phenotypic abnormality	10456	HAX1	OMIM:610738
HP:0000118	Phenotypic abnormality	10749	KIF1C	ORPHA:397946
HP:0000118	Phenotypic abnormality	10749	KIF1C	OMIM:611302
HP:0000118	Phenotypic abnormality	5654	HTRA1	ORPHA:199354
HP:0000118	Phenotypic abnormality	92935	MARS2	OMIM:611390
HP:0000118	Phenotypic abnormality	92935	MARS2	ORPHA:314603
HP:0000118	Phenotypic abnormality	56978	PRDM8	OMIM:616640
HP:0000118	Phenotypic abnormality	55149	MTPAP	OMIM:613672
HP:0000118	Phenotypic abnormality	10381	TUBB3	ORPHA:300570
HP:0000118	Phenotypic abnormality	10939	AFG3L2	OMIM:614487
HP:0000118	Phenotypic abnormality	4038	LRP4	OMIM:614305
HP:0000118	Phenotypic abnormality	54834	GDAP2	OMIM:618369
HP:0000118	Phenotypic abnormality	55157	DARS2	ORPHA:137898
HP:0000118	Phenotypic abnormality	6843	VAMP1	OMIM:108600
HP:0000118	Phenotypic abnormality	6843	VAMP1	ORPHA:251282
HP:0000118	Phenotypic abnormality	27249	MMADHC	OMIM:277410
HP:0000118	Phenotypic abnormality	26115	TANC2	OMIM:618906
HP:0000118	Phenotypic abnormality	6687	SPG7	OMIM:607259
HP:0000118	Phenotypic abnormality	6905	TBCE	ORPHA:496756
HP:0000118	Phenotypic abnormality	498	ATP5F1A	OMIM:620358
HP:0000118	Phenotypic abnormality	51218	GLRX5	OMIM:616859
HP:0000118	Phenotypic abnormality	26278	SACS	OMIM:270550
HP:0000118	Phenotypic abnormality	55958	KLHL9	ORPHA:399081
HP:0000118	Phenotypic abnormality	9365	KL	OMIM:617994
HP:0000118	Phenotypic abnormality	56160	NSMCE3	OMIM:617241
HP:0000118	Phenotypic abnormality	1297	COL9A1	ORPHA:166002
HP:0000118	Phenotypic abnormality	8557	TCAP	OMIM:601954
HP:0000118	Phenotypic abnormality	374393	FAM111B	OMIM:615704
HP:0000118	Phenotypic abnormality	84909	AOPEP	OMIM:619565
HP:0000118	Phenotypic abnormality	170825	GSX2	OMIM:618646
HP:0000118	Phenotypic abnormality	5700	PSMC1	OMIM:620071
HP:0000118	Phenotypic abnormality	1041	CDSN	ORPHA:90368
HP:0000118	Phenotypic abnormality	121391	KRT74	ORPHA:90368
HP:0000118	Phenotypic abnormality	51702	PADI3	ORPHA:1410
HP:0000118	Phenotypic abnormality	668	FOXL2	ORPHA:572333
HP:0000118	Phenotypic abnormality	668	FOXL2	OMIM:110100
HP:0000118	Phenotypic abnormality	23511	NUP188	OMIM:618804
HP:0000118	Phenotypic abnormality	3691	ITGB4	OMIM:619816
HP:0000118	Phenotypic abnormality	79574	EPS8L3	OMIM:612841
HP:0000118	Phenotypic abnormality	55806	HR	OMIM:203655
HP:0000118	Phenotypic abnormality	1586	CYP17A1	ORPHA:90793
HP:0000118	Phenotypic abnormality	3858	KRT10	OMIM:609165
HP:0000118	Phenotypic abnormality	10220	GDF11	OMIM:619122
HP:0000118	Phenotypic abnormality	5792	PTPRF	OMIM:616001
HP:0000118	Phenotypic abnormality	10216	PRG4	OMIM:208250
HP:0000118	Phenotypic abnormality	6495	SIX1	OMIM:113650
HP:0000118	Phenotypic abnormality	8882	ZPR1	OMIM:619321
HP:0000118	Phenotypic abnormality	25790	CFAP45	OMIM:619608
HP:0000118	Phenotypic abnormality	118856	MMP21	OMIM:616749
HP:0000118	Phenotypic abnormality	3670	ISL1	ORPHA:93930
HP:0000118	Phenotypic abnormality	10653	SPINT2	OMIM:270420
HP:0000118	Phenotypic abnormality	9414	TJP2	OMIM:607748
HP:0000118	Phenotypic abnormality	80270	HSD3B7	OMIM:607765
HP:0000118	Phenotypic abnormality	6555	SLC10A2	OMIM:613291
HP:0000118	Phenotypic abnormality	6718	AKR1D1	OMIM:235555
HP:0000118	Phenotypic abnormality	6718	AKR1D1	ORPHA:79303
HP:0000118	Phenotypic abnormality	11330	CTRC	OMIM:167800
HP:0000118	Phenotypic abnormality	6690	SPINK1	OMIM:167800
HP:0000118	Phenotypic abnormality	5645	PRSS2	OMIM:167800
HP:0000118	Phenotypic abnormality	5644	PRSS1	OMIM:167800
HP:0000118	Phenotypic abnormality	123264	SLC51B	OMIM:619481
HP:0000118	Phenotypic abnormality	2947	GSTM3	ORPHA:586
HP:0000118	Phenotypic abnormality	1084	CEACAM3	ORPHA:586
HP:0000118	Phenotypic abnormality	6556	SLC11A1	ORPHA:586
HP:0000118	Phenotypic abnormality	51164	DCTN4	ORPHA:586
HP:0000118	Phenotypic abnormality	3783	KCNN4	ORPHA:586
HP:0000118	Phenotypic abnormality	4282	MIF	ORPHA:586
HP:0000118	Phenotypic abnormality	1909	EDNRA	ORPHA:586
HP:0000118	Phenotypic abnormality	6550	SLC9A3	ORPHA:586
HP:0000118	Phenotypic abnormality	115019	SLC26A9	ORPHA:586
HP:0000118	Phenotypic abnormality	11254	SLC6A14	ORPHA:586
HP:0000118	Phenotypic abnormality	5265	SERPINA1	ORPHA:586
HP:0000118	Phenotypic abnormality	22802	CLCA4	ORPHA:586
HP:0000118	Phenotypic abnormality	4680	CEACAM6	ORPHA:586
HP:0000118	Phenotypic abnormality	5406	PNLIP	OMIM:614338
HP:0000118	Phenotypic abnormality	64711	HS3ST6	OMIM:619367
HP:0000118	Phenotypic abnormality	10660	LBX1	OMIM:619483
HP:0000118	Phenotypic abnormality	57107	PDSS2	ORPHA:255249
HP:0000118	Phenotypic abnormality	83483	PLVAP	OMIM:618183
HP:0000118	Phenotypic abnormality	79577	CDC73	ORPHA:99880
HP:0000118	Phenotypic abnormality	79577	CDC73	ORPHA:143
HP:0000118	Phenotypic abnormality	1616	DAXX	ORPHA:100075
HP:0000118	Phenotypic abnormality	2161	F12	OMIM:610618
HP:0000118	Phenotypic abnormality	8516	ITGA8	ORPHA:1848
HP:0000118	Phenotypic abnormality	26281	FGF20	ORPHA:1848
HP:0000118	Phenotypic abnormality	2674	GFRA1	ORPHA:1848
HP:0000118	Phenotypic abnormality	7484	WNT9B	ORPHA:1848
HP:0000118	Phenotypic abnormality	80000	GREB1L	ORPHA:1848
HP:0000118	Phenotypic abnormality	10606	PAICS	OMIM:619859
HP:0000118	Phenotypic abnormality	26585	GREM1	ORPHA:157794
HP:0000118	Phenotypic abnormality	219972	MPEG1	OMIM:619223
HP:0000118	Phenotypic abnormality	4193	MDM2	ORPHA:99971
HP:0000118	Phenotypic abnormality	1649	DDIT3	ORPHA:99967
HP:0000118	Phenotypic abnormality	1131	CHRM3	ORPHA:2970
HP:0000118	Phenotypic abnormality	1174	AP1S1	OMIM:609313
HP:0000118	Phenotypic abnormality	4790	NFKB1	OMIM:616576
HP:0000118	Phenotypic abnormality	999	CDH1	OMIM:137215
HP:0000118	Phenotypic abnormality	9051	PSTPIP1	OMIM:604416
HP:0000118	Phenotypic abnormality	7128	TNFAIP3	OMIM:616744
HP:0000118	Phenotypic abnormality	4261	CIITA	OMIM:209920
HP:0000118	Phenotypic abnormality	5994	RFXAP	OMIM:209920
HP:0000118	Phenotypic abnormality	5993	RFX5	OMIM:209920
HP:0000118	Phenotypic abnormality	8625	RFXANK	OMIM:209920
HP:0000118	Phenotypic abnormality	6850	SYK	OMIM:619381
HP:0000118	Phenotypic abnormality	23149	FCHO1	OMIM:619164
HP:0000118	Phenotypic abnormality	60468	BACH2	OMIM:618394
HP:0000118	Phenotypic abnormality	3587	IL10RA	OMIM:613148
HP:0000118	Phenotypic abnormality	5294	PIK3CG	OMIM:619802
HP:0000118	Phenotypic abnormality	338328	GPIHBP1	OMIM:615947
HP:0000118	Phenotypic abnormality	7010	TEK	ORPHA:1059
HP:0000118	Phenotypic abnormality	7010	TEK	OMIM:600195
HP:0000118	Phenotypic abnormality	4665	NAB2	ORPHA:2126
HP:0000118	Phenotypic abnormality	6778	STAT6	ORPHA:2126
HP:0000118	Phenotypic abnormality	2130	EWSR1	ORPHA:83469
HP:0000118	Phenotypic abnormality	7132	TNFRSF1A	ORPHA:32960
HP:0000118	Phenotypic abnormality	79827	CLMP	OMIM:615237
HP:0000118	Phenotypic abnormality	29928	TIMM22	OMIM:618851
HP:0000118	Phenotypic abnormality	55107	ANO1	OMIM:620045
HP:0000118	Phenotypic abnormality	5122	PCSK1	ORPHA:71528
HP:0000118	Phenotypic abnormality	4160	MC4R	ORPHA:71529
HP:0000118	Phenotypic abnormality	4160	MC4R	OMIM:618406
HP:0000118	Phenotypic abnormality	5443	POMC	ORPHA:71526
HP:0000118	Phenotypic abnormality	5443	POMC	OMIM:609734
HP:0000118	Phenotypic abnormality	3952	LEP	ORPHA:66628
HP:0000118	Phenotypic abnormality	3952	LEP	OMIM:614962
HP:0000118	Phenotypic abnormality	506	ATP5F1B	OMIM:620085
HP:0000118	Phenotypic abnormality	6524	SLC5A2	OMIM:233100
HP:0000118	Phenotypic abnormality	5321	PLA2G4A	OMIM:618372
HP:0000118	Phenotypic abnormality	9780	PIEZO1	OMIM:616843
HP:0000118	Phenotypic abnormality	1604	CD55	OMIM:226300
HP:0000118	Phenotypic abnormality	8462	KLF11	ORPHA:552
HP:0000118	Phenotypic abnormality	26060	APPL1	ORPHA:552
HP:0000118	Phenotypic abnormality	640	BLK	ORPHA:552
HP:0000118	Phenotypic abnormality	1056	CEL	ORPHA:552
HP:0000118	Phenotypic abnormality	4760	NEUROD1	ORPHA:552
HP:0000118	Phenotypic abnormality	5078	PAX4	ORPHA:552
HP:0000118	Phenotypic abnormality	222546	RFX6	OMIM:615710
HP:0000118	Phenotypic abnormality	4306	NR3C2	OMIM:177735
HP:0000118	Phenotypic abnormality	54538	ROBO4	OMIM:618496
HP:0000118	Phenotypic abnormality	11231	SEC63	ORPHA:2924
HP:0000118	Phenotypic abnormality	5589	PRKCSH	ORPHA:2924
HP:0000118	Phenotypic abnormality	2158	F9	OMIM:300807
HP:0000118	Phenotypic abnormality	78987	CRELD1	OMIM:606217
HP:0000118	Phenotypic abnormality	11146	GLMN	ORPHA:83454
HP:0000118	Phenotypic abnormality	847	CAT	ORPHA:926
HP:0000118	Phenotypic abnormality	10999	SLC27A4	ORPHA:88621
HP:0000118	Phenotypic abnormality	4905	NSF	OMIM:619340
HP:0000118	Phenotypic abnormality	6916	TBXAS1	ORPHA:1802
HP:0000118	Phenotypic abnormality	79879	CCDC134	OMIM:619795
HP:0000118	Phenotypic abnormality	4617	MYF5	OMIM:618155
HP:0000118	Phenotypic abnormality	6909	TBX2	OMIM:618223
HP:0000118	Phenotypic abnormality	23586	RIGI	OMIM:616298
HP:0000118	Phenotypic abnormality	5479	PPIB	OMIM:259440
HP:0000118	Phenotypic abnormality	3026	HABP2	ORPHA:319487
HP:0000118	Phenotypic abnormality	5345	SERPINF2	ORPHA:79
HP:0000118	Phenotypic abnormality	57592	ZNF687	OMIM:616833
HP:0000118	Phenotypic abnormality	84695	LOXL3	ORPHA:250984
HP:0000118	Phenotypic abnormality	9368	NHERF1	OMIM:612287
HP:0000118	Phenotypic abnormality	85446	ZFHX2	OMIM:147430
HP:0000118	Phenotypic abnormality	5978	REST	ORPHA:654
HP:0000118	Phenotypic abnormality	10155	TRIM28	ORPHA:654
HP:0000118	Phenotypic abnormality	11281	POU6F2	ORPHA:654
HP:0000118	Phenotypic abnormality	1565	CYP2D6	OMIM:608902
HP:0000118	Phenotypic abnormality	256646	NUTM1	ORPHA:443167
HP:0000118	Phenotypic abnormality	8438	RAD54L	OMIM:605027
HP:0000118	Phenotypic abnormality	25788	RAD54B	OMIM:605027
HP:0000118	Phenotypic abnormality	940	CD28	ORPHA:3162
HP:0000118	Phenotypic abnormality	940	CD28	ORPHA:2584
HP:0000118	Phenotypic abnormality	7133	TNFRSF1B	ORPHA:3162
HP:0000118	Phenotypic abnormality	7133	TNFRSF1B	ORPHA:2584
HP:0000118	Phenotypic abnormality	51428	DDX41	OMIM:616871
HP:0000118	Phenotypic abnormality	10519	CIB1	OMIM:618267
HP:0000118	Phenotypic abnormality	11322	TMC6	OMIM:226400
HP:0000118	Phenotypic abnormality	4913	NTHL1	OMIM:616415
HP:0000118	Phenotypic abnormality	4913	NTHL1	ORPHA:454840
HP:0000118	Phenotypic abnormality	9817	KEAP1	ORPHA:276399
HP:0000118	Phenotypic abnormality	7097	TLR2	OMIM:246300
HP:0000118	Phenotypic abnormality	3574	IL7	ORPHA:302
HP:0000118	Phenotypic abnormality	147138	TMC8	ORPHA:302
HP:0000118	Phenotypic abnormality	56259	CTNNBL1	OMIM:619846
HP:0000118	Phenotypic abnormality	28755	TRAC	OMIM:615387
HP:0000118	Phenotypic abnormality	6049	RNF6	ORPHA:99977
HP:0000118	Phenotypic abnormality	9940	DLEC1	ORPHA:99977
HP:0000118	Phenotypic abnormality	4173	MCM4	OMIM:609981
HP:0000118	Phenotypic abnormality	6789	STK4	OMIM:614868
HP:0000118	Phenotypic abnormality	79840	NHEJ1	ORPHA:169079
HP:0000118	Phenotypic abnormality	925	CD8A	OMIM:608957
HP:0000118	Phenotypic abnormality	7922	SLC39A7	OMIM:619693
HP:0000118	Phenotypic abnormality	84522	JAGN1	OMIM:616022
HP:0000118	Phenotypic abnormality	1675	CFD	OMIM:613912
HP:0000118	Phenotypic abnormality	958	CD40	OMIM:606843
HP:0000118	Phenotypic abnormality	1053	CEBPE	OMIM:245480
HP:0000118	Phenotypic abnormality	3551	IKBKB	OMIM:615592
HP:0000118	Phenotypic abnormality	712	C1QA	OMIM:613652
HP:0000118	Phenotypic abnormality	9837	GINS1	OMIM:617827
HP:0000118	Phenotypic abnormality	55388	MCM10	OMIM:619313
HP:0000118	Phenotypic abnormality	7293	TNFRSF4	OMIM:615593
HP:0000118	Phenotypic abnormality	79083	MLPH	OMIM:609227
HP:0000118	Phenotypic abnormality	3665	IRF7	OMIM:616345
HP:0000118	Phenotypic abnormality	28956	LAMTOR2	ORPHA:90023
HP:0000118	Phenotypic abnormality	28956	LAMTOR2	OMIM:610798
HP:0000118	Phenotypic abnormality	7297	TYK2	OMIM:611521
HP:0000118	Phenotypic abnormality	917	CD3G	OMIM:615607
HP:0000118	Phenotypic abnormality	3460	IFNGR2	OMIM:614889
HP:0000118	Phenotypic abnormality	10747	MASP2	OMIM:613791
HP:0000118	Phenotypic abnormality	717	C2	OMIM:217000
HP:0000118	Phenotypic abnormality	4153	MBL2	OMIM:614372
HP:0000118	Phenotypic abnormality	3851	KRT4	OMIM:193900
HP:0000118	Phenotypic abnormality	286887	KRT6C	OMIM:615735
HP:0000118	Phenotypic abnormality	6117	RPA1	OMIM:619767
HP:0000118	Phenotypic abnormality	2693	GHSR	OMIM:615925
HP:0000118	Phenotypic abnormality	2693	GHSR	ORPHA:314811
HP:0000118	Phenotypic abnormality	3483	IGFALS	ORPHA:140941
HP:0000118	Phenotypic abnormality	254394	MCM9	OMIM:616185
HP:0000118	Phenotypic abnormality	2692	GHRHR	OMIM:618157
HP:0000118	Phenotypic abnormality	55599	RNPC3	OMIM:618160
HP:0000118	Phenotypic abnormality	3689	ITGB2	OMIM:116920
HP:0000118	Phenotypic abnormality	6522	SLC4A2	OMIM:620366
HP:0000118	Phenotypic abnormality	29775	CARD10	OMIM:619632
HP:0000118	Phenotypic abnormality	8547	FCN3	OMIM:613860
HP:0000118	Phenotypic abnormality	9094	UNC119	OMIM:615518
HP:0000118	Phenotypic abnormality	8456	FOXN1	OMIM:618806
HP:0000118	Phenotypic abnormality	920	CD4	OMIM:619238
HP:0000118	Phenotypic abnormality	3570	IL6R	OMIM:618944
HP:0000118	Phenotypic abnormality	5019	OXCT1	OMIM:245050
HP:0000118	Phenotypic abnormality	439	GET3	OMIM:620203
HP:0000118	Phenotypic abnormality	3621	ING1	OMIM:275355
HP:0000118	Phenotypic abnormality	8795	TNFRSF10B	OMIM:275355
HP:0000118	Phenotypic abnormality	10395	DLC1	OMIM:114500
HP:0000118	Phenotypic abnormality	5782	PTPN12	OMIM:114500
HP:0000118	Phenotypic abnormality	5320	PLA2G2A	OMIM:114500
HP:0000118	Phenotypic abnormality	6790	AURKA	OMIM:114500
HP:0000118	Phenotypic abnormality	581	BAX	OMIM:114500
HP:0000118	Phenotypic abnormality	4163	MCC	OMIM:114500
HP:0000118	Phenotypic abnormality	5795	PTPRJ	OMIM:114500
HP:0000118	Phenotypic abnormality	57522	SRGAP1	OMIM:188470
HP:0000118	Phenotypic abnormality	29071	C1GALT1C1	OMIM:300622
HP:0000118	Phenotypic abnormality	5002	SLC22A18	OMIM:114480
HP:0000118	Phenotypic abnormality	4835	NQO2	OMIM:114480
HP:0000118	Phenotypic abnormality	5245	PHB1	OMIM:114480
HP:0000118	Phenotypic abnormality	3161	HMMR	OMIM:114480
HP:0000118	Phenotypic abnormality	7517	XRCC3	OMIM:114480
HP:0000118	Phenotypic abnormality	9821	RB1CC1	OMIM:114480
HP:0000118	Phenotypic abnormality	4092	SMAD7	OMIM:612229
HP:0000118	Phenotypic abnormality	89869	PLCZ1	OMIM:617214
HP:0000118	Phenotypic abnormality	3029	HAGH	OMIM:614033
HP:0000118	Phenotypic abnormality	22947	DUX4L1	ORPHA:269
HP:0000118	Phenotypic abnormality	100288687	DUX4	ORPHA:269
HP:0000118	Phenotypic abnormality	2027	ENO3	OMIM:612932
HP:0000118	Phenotypic abnormality	4194	MDM4	OMIM:618849
HP:0000118	Phenotypic abnormality	125170	MIEF2	OMIM:619024
HP:0000118	Phenotypic abnormality	8328	GFI1B	OMIM:187900
HP:0000118	Phenotypic abnormality	116519	APOA5	OMIM:145750
HP:0000118	Phenotypic abnormality	116519	APOA5	OMIM:144650
HP:0000118	Phenotypic abnormality	146845	CFAP52	OMIM:619607
HP:0000118	Phenotypic abnormality	8988	HSPB3	OMIM:613376
HP:0000118	Phenotypic abnormality	9639	ARHGEF10	OMIM:608236
HP:0000118	Phenotypic abnormality	9630	GNA14	ORPHA:1063
HP:0000118	Phenotypic abnormality	2495	FTH1	OMIM:615517
HP:0000118	Phenotypic abnormality	8492	PRSS12	OMIM:249500
HP:0000118	Phenotypic abnormality	84888	SPPL2A	OMIM:619549
HP:0000118	Phenotypic abnormality	217	ALDH2	OMIM:610251
HP:0000118	Phenotypic abnormality	84343	HPS3	OMIM:614072
HP:0000118	Phenotypic abnormality	81027	TUBB1	OMIM:613112
HP:0000118	Phenotypic abnormality	81034	SLC25A32	OMIM:616839
HP:0000118	Phenotypic abnormality	9620	CELSR1	OMIM:619319
HP:0000118	Phenotypic abnormality	51251	NT5C3A	OMIM:266120
HP:0000118	Phenotypic abnormality	3818	KLKB1	OMIM:612423
HP:0000118	Phenotypic abnormality	3827	KNG1	OMIM:228960
HP:0000118	Phenotypic abnormality	4927	NUP88	ORPHA:994
HP:0000118	Phenotypic abnormality	4967	OGDH	OMIM:203740
HP:0000118	Phenotypic abnormality	92667	MGME1	ORPHA:352447
HP:0000118	Phenotypic abnormality	92667	MGME1	OMIM:615084
HP:0000118	Phenotypic abnormality	2859	GPR35	ORPHA:171
HP:0000118	Phenotypic abnormality	10507	SEMA4D	ORPHA:171
HP:0000118	Phenotypic abnormality	4485	MST1	ORPHA:171
HP:0000118	Phenotypic abnormality	36	ACADSB	OMIM:610006
HP:0000118	Phenotypic abnormality	205327	C2orf69	OMIM:619423
HP:0000118	Phenotypic abnormality	91452	ACBD5	OMIM:618863
HP:0000118	Phenotypic abnormality	80308	FLAD1	OMIM:255100
HP:0000118	Phenotypic abnormality	7148	TNXB	ORPHA:230839
HP:0000118	Phenotypic abnormality	7148	TNXB	OMIM:606408
HP:0000118	Phenotypic abnormality	825	CAPN3	ORPHA:267
HP:0000118	Phenotypic abnormality	825	CAPN3	OMIM:618129
HP:0000118	Phenotypic abnormality	6444	SGCD	OMIM:601287
HP:0000118	Phenotypic abnormality	84876	ORAI1	OMIM:612782
HP:0000118	Phenotypic abnormality	84876	ORAI1	OMIM:615883
HP:0000118	Phenotypic abnormality	9581	PREPL	OMIM:616224
HP:0000118	Phenotypic abnormality	10367	MICU1	ORPHA:401768
HP:0000118	Phenotypic abnormality	10367	MICU1	OMIM:615673
HP:0000118	Phenotypic abnormality	5442	POLRMT	OMIM:619743
HP:0000118	Phenotypic abnormality	844	CASQ1	OMIM:616231
HP:0000118	Phenotypic abnormality	4632	MYL1	OMIM:618414
HP:0000118	Phenotypic abnormality	113278	SLC52A3	OMIM:211530
HP:0000118	Phenotypic abnormality	8622	PDE8B	ORPHA:189439
HP:0000118	Phenotypic abnormality	50940	PDE11A	ORPHA:189439
HP:0000118	Phenotypic abnormality	10290	SPEG	OMIM:615959
HP:0000118	Phenotypic abnormality	1299	COL9A3	OMIM:600969
HP:0000118	Phenotypic abnormality	79798	ARMC5	ORPHA:189427
HP:0000118	Phenotypic abnormality	11149	BVES	OMIM:616812
HP:0000118	Phenotypic abnormality	3991	LIPE	OMIM:615980
HP:0000118	Phenotypic abnormality	126129	CPT1C	OMIM:616282
HP:0000118	Phenotypic abnormality	84679	SLC9A7	OMIM:301024
HP:0000118	Phenotypic abnormality	10616	RBCK1	OMIM:615895
HP:0000118	Phenotypic abnormality	84892	POMGNT2	OMIM:618135
HP:0000118	Phenotypic abnormality	4507	MTAP	OMIM:112250
HP:0000118	Phenotypic abnormality	56244	BTNL2	ORPHA:797
HP:0000118	Phenotypic abnormality	84265	POLR3GL	OMIM:619234
HP:0000118	Phenotypic abnormality	55791	LRIF1	OMIM:619477
HP:0000118	Phenotypic abnormality	64208	POPDC3	OMIM:618848
HP:0000118	Phenotypic abnormality	81545	FBXO38	OMIM:615575
HP:0000118	Phenotypic abnormality	6584	SLC22A5	OMIM:212140
HP:0000118	Phenotypic abnormality	6566	SLC16A1	OMIM:245340
HP:0000118	Phenotypic abnormality	5836	PYGL	ORPHA:369
HP:0000118	Phenotypic abnormality	3703	STT3A	OMIM:619714
HP:0000118	Phenotypic abnormality	3714	JAG2	OMIM:619566
HP:0000118	Phenotypic abnormality	63924	CIDEC	ORPHA:435651
HP:0000118	Phenotypic abnormality	2660	MSTN	OMIM:614160
HP:0000118	Phenotypic abnormality	246243	RNASEH1	ORPHA:329336
HP:0000118	Phenotypic abnormality	1134	CHRNA1	ORPHA:98913
HP:0000118	Phenotypic abnormality	1145	CHRNE	ORPHA:98913
HP:0000118	Phenotypic abnormality	5913	RAPSN	ORPHA:98913
HP:0000118	Phenotypic abnormality	221264	AK9	ORPHA:98913
HP:0000118	Phenotypic abnormality	285489	DOK7	ORPHA:98913
HP:0000118	Phenotypic abnormality	2483	FRG1	OMIM:158900
HP:0000118	Phenotypic abnormality	146862	UNC45B	OMIM:619178
HP:0000118	Phenotypic abnormality	2548	GAA	OMIM:232300
HP:0000118	Phenotypic abnormality	695	BTK	OMIM:300755
HP:0000118	Phenotypic abnormality	695	BTK	OMIM:307200
HP:0000118	Phenotypic abnormality	11232	POLG2	ORPHA:254892
HP:0000118	Phenotypic abnormality	122622	ADSS1	ORPHA:482601
HP:0000118	Phenotypic abnormality	1756	DMD	ORPHA:206546
HP:0000118	Phenotypic abnormality	11155	LDB3	OMIM:609452
HP:0000118	Phenotypic abnormality	4511	MT-TC	OMIM:540000
HP:0000118	Phenotypic abnormality	112812	FDX2	OMIM:251900
HP:0000118	Phenotypic abnormality	55154	MSTO1	ORPHA:502423
HP:0000118	Phenotypic abnormality	50640	PNPLA8	OMIM:251950
HP:0000118	Phenotypic abnormality	80324	PUS1	ORPHA:2598
HP:0000118	Phenotypic abnormality	51067	YARS2	ORPHA:2598
HP:0000118	Phenotypic abnormality	272	AMPD3	ORPHA:45
HP:0000118	Phenotypic abnormality	34	ACADM	ORPHA:42
HP:0000118	Phenotypic abnormality	3939	LDHA	ORPHA:284426
HP:0000118	Phenotypic abnormality	37	ACADVL	OMIM:201475
HP:0000118	Phenotypic abnormality	2318	FLNC	ORPHA:63273
HP:0000118	Phenotypic abnormality	5837	PYGM	OMIM:232600
HP:0000118	Phenotypic abnormality	5837	PYGM	ORPHA:368
HP:0000118	Phenotypic abnormality	64419	MTMR14	ORPHA:169189
HP:0000118	Phenotypic abnormality	4618	MYF6	ORPHA:169189
HP:0000118	Phenotypic abnormality	5224	PGAM2	OMIM:261670
HP:0000118	Phenotypic abnormality	90523	MLIP	OMIM:620138
HP:0000118	Phenotypic abnormality	284439	SLC25A42	OMIM:618416
HP:0000118	Phenotypic abnormality	23175	LPIN1	ORPHA:99845
HP:0000118	Phenotypic abnormality	5230	PGK1	ORPHA:713
HP:0000118	Phenotypic abnormality	4337	MOCS1	OMIM:252150
HP:0000118	Phenotypic abnormality	221927	BRAT1	OMIM:614498
HP:0000118	Phenotypic abnormality	4338	MOCS2	OMIM:252160
HP:0000118	Phenotypic abnormality	6509	SLC1A4	ORPHA:447997
HP:0000118	Phenotypic abnormality	23347	SMCHD1	OMIM:158901
HP:0000118	Phenotypic abnormality	1763	DNA2	OMIM:615156
HP:0000118	Phenotypic abnormality	57104	PNPLA2	ORPHA:98908
HP:0000118	Phenotypic abnormality	5257	PHKB	ORPHA:79240
HP:0000118	Phenotypic abnormality	6607	SMN2	OMIM:253400
HP:0000118	Phenotypic abnormality	10049	DNAJB6	OMIM:603511
HP:0000118	Phenotypic abnormality	5339	PLEC	ORPHA:254361
HP:0000118	Phenotypic abnormality	54344	DPM3	ORPHA:263494
HP:0000118	Phenotypic abnormality	6443	SGCB	ORPHA:119
HP:0000118	Phenotypic abnormality	203859	ANO5	OMIM:611307
HP:0000118	Phenotypic abnormality	9987	HNRNPDL	OMIM:609115
HP:0000118	Phenotypic abnormality	270	AMPD1	OMIM:615511
HP:0000118	Phenotypic abnormality	29958	DMGDH	ORPHA:243343
HP:0000118	Phenotypic abnormality	29958	DMGDH	OMIM:605850
HP:0000118	Phenotypic abnormality	866	SERPINA6	OMIM:611489
HP:0000118	Phenotypic abnormality	6786	STIM1	OMIM:185070
HP:0000118	Phenotypic abnormality	226	ALDOA	ORPHA:57
HP:0000118	Phenotypic abnormality	6901	TAFAZZIN	OMIM:302060
HP:0000118	Phenotypic abnormality	54345	SOX18	OMIM:137940
HP:0000118	Phenotypic abnormality	256297	PTF1A	OMIM:609069
HP:0000118	Phenotypic abnormality	5346	PLIN1	ORPHA:280356
HP:0000118	Phenotypic abnormality	6514	SLC2A2	OMIM:227810
HP:0000118	Phenotypic abnormality	51305	KCNK9	OMIM:612292
HP:0000118	Phenotypic abnormality	7156	TOP3A	OMIM:618097
HP:0000118	Phenotypic abnormality	3480	IGF1R	OMIM:270450
HP:0000118	Phenotypic abnormality	54809	SAMD9	OMIM:610455
HP:0000118	Phenotypic abnormality	846	CASR	OMIM:239200
HP:0000118	Phenotypic abnormality	8312	AXIN1	OMIM:607864
HP:0000118	Phenotypic abnormality	5138	PDE2A	OMIM:619150
HP:0000118	Phenotypic abnormality	288	ANK3	OMIM:615493
HP:0000118	Phenotypic abnormality	288	ANK3	ORPHA:356996
HP:0000118	Phenotypic abnormality	23221	RHOBTB2	OMIM:618004
HP:0000118	Phenotypic abnormality	3899	AFF3	OMIM:619297
HP:0000118	Phenotypic abnormality	54517	PUS7	OMIM:618342
HP:0000118	Phenotypic abnormality	3064	HTT	OMIM:617435
HP:0000118	Phenotypic abnormality	10087	CERT1	OMIM:616351
HP:0000118	Phenotypic abnormality	10533	ATG7	OMIM:619422
HP:0000118	Phenotypic abnormality	10472	ZBTB18	OMIM:612337
HP:0000118	Phenotypic abnormality	84628	NTNG2	OMIM:618718
HP:0000118	Phenotypic abnormality	3861	KRT14	ORPHA:89838
HP:0000118	Phenotypic abnormality	3008	H1-4	OMIM:617537
HP:0000118	Phenotypic abnormality	1854	DUT	OMIM:620044
HP:0000118	Phenotypic abnormality	1294	COL7A1	ORPHA:89842
HP:0000118	Phenotypic abnormality	1019	CDK4	ORPHA:618
HP:0000118	Phenotypic abnormality	4255	MGMT	ORPHA:618
HP:0000118	Phenotypic abnormality	54386	TERF2IP	ORPHA:618
HP:0000118	Phenotypic abnormality	65057	ACD	ORPHA:618
HP:0000118	Phenotypic abnormality	25913	POT1	ORPHA:618
HP:0000118	Phenotypic abnormality	1030	CDKN2B	ORPHA:618
HP:0000118	Phenotypic abnormality	4791	NFKB2	ORPHA:293978
HP:0000118	Phenotypic abnormality	4791	NFKB2	OMIM:615577
HP:0000118	Phenotypic abnormality	57217	TTC7A	OMIM:243150
HP:0000118	Phenotypic abnormality	57217	TTC7A	ORPHA:436252
HP:0000118	Phenotypic abnormality	1493	CTLA4	OMIM:616100
HP:0000118	Phenotypic abnormality	3107	HLA-C	OMIM:177900
HP:0000118	Phenotypic abnormality	130340	AP1S3	OMIM:616106
HP:0000118	Phenotypic abnormality	50943	FOXP3	ORPHA:37042
HP:0000118	Phenotypic abnormality	64919	BCL11B	OMIM:617237
HP:0000118	Phenotypic abnormality	26525	IL36RN	OMIM:614204
HP:0000118	Phenotypic abnormality	5293	PIK3CD	ORPHA:221139
HP:0000118	Phenotypic abnormality	90417	KNSTRN	ORPHA:221139
HP:0000118	Phenotypic abnormality	3514	IGKC	ORPHA:183675
HP:0000118	Phenotypic abnormality	3501	IGHG2	ORPHA:183675
HP:0000118	Phenotypic abnormality	3106	HLA-B	OMIM:106300
HP:0000118	Phenotypic abnormality	359948	IRF2BP2	OMIM:617765
HP:0000118	Phenotypic abnormality	55315	SLC29A3	ORPHA:168569
HP:0000118	Phenotypic abnormality	6307	MSMO1	OMIM:616834
HP:0000118	Phenotypic abnormality	6868	ADAM17	ORPHA:294023
HP:0000118	Phenotypic abnormality	1956	EGFR	ORPHA:294023
HP:0000118	Phenotypic abnormality	10058	ABCB6	OMIM:609153
HP:0000118	Phenotypic abnormality	2184	FAH	OMIM:276700
HP:0000118	Phenotypic abnormality	3762	KCNJ5	ORPHA:37553
HP:0000118	Phenotypic abnormality	1277	COL1A1	ORPHA:287
HP:0000118	Phenotypic abnormality	1290	COL5A2	ORPHA:287
HP:0000118	Phenotypic abnormality	2591	GALNT3	OMIM:211900
HP:0000118	Phenotypic abnormality	2248	FGF3	ORPHA:2791
HP:0000118	Phenotypic abnormality	1834	DSPP	OMIM:125420
HP:0000118	Phenotypic abnormality	51726	DNAJB11	OMIM:618061
HP:0000118	Phenotypic abnormality	51726	DNAJB11	ORPHA:730
HP:0000118	Phenotypic abnormality	1497	CTNS	OMIM:219800
HP:0000118	Phenotypic abnormality	1497	CTNS	OMIM:219900
HP:0000118	Phenotypic abnormality	1497	CTNS	ORPHA:411634
HP:0000118	Phenotypic abnormality	9722	NOS1AP	OMIM:619155
HP:0000118	Phenotypic abnormality	4010	LMX1B	ORPHA:2614
HP:0000118	Phenotypic abnormality	4010	LMX1B	OMIM:256020
HP:0000118	Phenotypic abnormality	718	C3	OMIM:612925
HP:0000118	Phenotypic abnormality	396	ARHGDIA	OMIM:615244
HP:0000118	Phenotypic abnormality	396	ARHGDIA	ORPHA:656
HP:0000118	Phenotypic abnormality	1184	CLCN5	OMIM:300009
HP:0000118	Phenotypic abnormality	10677	AVIL	OMIM:618594
HP:0000118	Phenotypic abnormality	84520	GON7	OMIM:619603
HP:0000118	Phenotypic abnormality	8526	DGKE	OMIM:615008
HP:0000118	Phenotypic abnormality	51473	DCDC2	OMIM:616217
HP:0000118	Phenotypic abnormality	51473	DCDC2	ORPHA:84081
HP:0000118	Phenotypic abnormality	977	CD151	OMIM:609057
HP:0000118	Phenotypic abnormality	2542	SLC37A4	ORPHA:79259
HP:0000118	Phenotypic abnormality	4868	NPHS1	ORPHA:656
HP:0000118	Phenotypic abnormality	23607	CD2AP	ORPHA:656
HP:0000118	Phenotypic abnormality	9688	NUP93	ORPHA:656
HP:0000118	Phenotypic abnormality	9688	NUP93	OMIM:616892
HP:0000118	Phenotypic abnormality	4643	MYO1E	ORPHA:656
HP:0000118	Phenotypic abnormality	4643	MYO1E	OMIM:614131
HP:0000118	Phenotypic abnormality	26130	GAPVD1	ORPHA:656
HP:0000118	Phenotypic abnormality	51479	ANKFY1	ORPHA:656
HP:0000118	Phenotypic abnormality	54443	ANLN	ORPHA:656
HP:0000118	Phenotypic abnormality	54443	ANLN	OMIM:616032
HP:0000118	Phenotypic abnormality	5800	PTPRO	ORPHA:656
HP:0000118	Phenotypic abnormality	5800	PTPRO	OMIM:614196
HP:0000118	Phenotypic abnormality	286204	CRB2	ORPHA:656
HP:0000118	Phenotypic abnormality	23165	NUP205	ORPHA:656
HP:0000118	Phenotypic abnormality	23165	NUP205	OMIM:616893
HP:0000118	Phenotypic abnormality	2013	EMP2	ORPHA:656
HP:0000118	Phenotypic abnormality	79023	NUP37	ORPHA:656
HP:0000118	Phenotypic abnormality	51196	PLCE1	ORPHA:656
HP:0000118	Phenotypic abnormality	51196	PLCE1	OMIM:610725
HP:0000118	Phenotypic abnormality	79902	NUP85	ORPHA:656
HP:0000118	Phenotypic abnormality	79902	NUP85	OMIM:618176
HP:0000118	Phenotypic abnormality	79934	COQ8B	ORPHA:656
HP:0000118	Phenotypic abnormality	79934	COQ8B	OMIM:615573
HP:0000118	Phenotypic abnormality	23279	NUP160	ORPHA:656
HP:0000118	Phenotypic abnormality	9863	MAGI2	ORPHA:656
HP:0000118	Phenotypic abnormality	9863	MAGI2	OMIM:617609
HP:0000118	Phenotypic abnormality	81	ACTN4	ORPHA:656
HP:0000118	Phenotypic abnormality	81	ACTN4	OMIM:603278
HP:0000118	Phenotypic abnormality	7225	TRPC6	ORPHA:656
HP:0000118	Phenotypic abnormality	7225	TRPC6	OMIM:603965
HP:0000118	Phenotypic abnormality	8542	APOL1	ORPHA:656
HP:0000118	Phenotypic abnormality	8542	APOL1	OMIM:612551
HP:0000118	Phenotypic abnormality	54885	TBC1D8B	ORPHA:656
HP:0000118	Phenotypic abnormality	54885	TBC1D8B	OMIM:301028
HP:0000118	Phenotypic abnormality	7827	NPHS2	ORPHA:656
HP:0000118	Phenotypic abnormality	7827	NPHS2	OMIM:600995
HP:0000118	Phenotypic abnormality	83478	ARHGAP24	ORPHA:656
HP:0000118	Phenotypic abnormality	23500	DAAM2	ORPHA:656
HP:0000118	Phenotypic abnormality	23193	GANAB	ORPHA:730
HP:0000118	Phenotypic abnormality	5310	PKD1	ORPHA:730
HP:0000118	Phenotypic abnormality	5311	PKD2	ORPHA:730
HP:0000118	Phenotypic abnormality	5311	PKD2	OMIM:613095
HP:0000118	Phenotypic abnormality	29880	ALG5	ORPHA:730
HP:0000118	Phenotypic abnormality	29880	ALG5	OMIM:620056
HP:0000118	Phenotypic abnormality	80114	BICC1	ORPHA:730
HP:0000118	Phenotypic abnormality	23005	MAPKBP1	OMIM:617271
HP:0000118	Phenotypic abnormality	3911	LAMA5	OMIM:620049
HP:0000118	Phenotypic abnormality	26146	TRAF3IP1	OMIM:616629
HP:0000118	Phenotypic abnormality	26146	TRAF3IP1	ORPHA:3156
HP:0000118	Phenotypic abnormality	4594	MMUT	OMIM:251000
HP:0000118	Phenotypic abnormality	25778	DSTYK	OMIM:610805
HP:0000118	Phenotypic abnormality	9056	SLC7A7	OMIM:222700
HP:0000118	Phenotypic abnormality	27031	NPHP3	OMIM:267010
HP:0000118	Phenotypic abnormality	27031	NPHP3	OMIM:604387
HP:0000118	Phenotypic abnormality	27031	NPHP3	OMIM:208540
HP:0000118	Phenotypic abnormality	27031	NPHP3	ORPHA:3156
HP:0000118	Phenotypic abnormality	203286	ANKS6	OMIM:615382
HP:0000118	Phenotypic abnormality	254428	SLC41A1	OMIM:619468
HP:0000118	Phenotypic abnormality	149461	CLDN19	OMIM:248190
HP:0000118	Phenotypic abnormality	4582	MUC1	OMIM:174000
HP:0000118	Phenotypic abnormality	27130	INVS	OMIM:602088
HP:0000118	Phenotypic abnormality	27130	INVS	ORPHA:3156
HP:0000118	Phenotypic abnormality	7809	BSND	ORPHA:89938
HP:0000118	Phenotypic abnormality	1188	CLCNKB	ORPHA:89938
HP:0000118	Phenotypic abnormality	1187	CLCNKA	ORPHA:89938
HP:0000118	Phenotypic abnormality	10269	ZMPSTE24	OMIM:608612
HP:0000118	Phenotypic abnormality	8879	SGPL1	OMIM:617575
HP:0000118	Phenotypic abnormality	975	CD81	OMIM:613496
HP:0000118	Phenotypic abnormality	1286	COL4A4	OMIM:203780
HP:0000118	Phenotypic abnormality	199221	DZIP1L	OMIM:617610
HP:0000118	Phenotypic abnormality	199221	DZIP1L	ORPHA:731
HP:0000118	Phenotypic abnormality	5580	PRKCD	OMIM:615559
HP:0000118	Phenotypic abnormality	54796	BNC2	ORPHA:93110
HP:0000118	Phenotypic abnormality	2335	FN1	OMIM:601894
HP:0000118	Phenotypic abnormality	100147744	RNU7-1	OMIM:619487
HP:0000118	Phenotypic abnormality	50485	SMARCAL1	ORPHA:1830
HP:0000118	Phenotypic abnormality	50485	SMARCAL1	OMIM:242900
HP:0000118	Phenotypic abnormality	10253	SPRY2	OMIM:616818
HP:0000118	Phenotypic abnormality	284086	NEK8	OMIM:613824
HP:0000118	Phenotypic abnormality	93649	MYOCD	OMIM:618719
HP:0000118	Phenotypic abnormality	353	APRT	ORPHA:976
HP:0000118	Phenotypic abnormality	1962	EHHADH	ORPHA:3337
HP:0000118	Phenotypic abnormality	2628	GATM	ORPHA:3337
HP:0000118	Phenotypic abnormality	6569	SLC34A1	ORPHA:3337
HP:0000118	Phenotypic abnormality	63929	XPNPEP3	OMIM:613159
HP:0000118	Phenotypic abnormality	84662	GLIS2	OMIM:611498
HP:0000118	Phenotypic abnormality	64127	NOD2	ORPHA:90340
HP:0000118	Phenotypic abnormality	81494	CFHR5	OMIM:614809
HP:0000118	Phenotypic abnormality	51004	COQ6	OMIM:614650
HP:0000118	Phenotypic abnormality	51134	CEP83	OMIM:615862
HP:0000118	Phenotypic abnormality	22897	CEP164	ORPHA:3156
HP:0000118	Phenotypic abnormality	22909	FAN1	OMIM:614817
HP:0000118	Phenotypic abnormality	1288	COL4A6	ORPHA:1018
HP:0000118	Phenotypic abnormality	6768	ST14	OMIM:602400
HP:0000118	Phenotypic abnormality	147409	DSG4	OMIM:607903
HP:0000118	Phenotypic abnormality	2068	ERCC2	OMIM:601675
HP:0000118	Phenotypic abnormality	617	BCS1L	OMIM:262000
HP:0000118	Phenotypic abnormality	81607	NECTIN4	OMIM:613573
HP:0000118	Phenotypic abnormality	5818	NECTIN1	ORPHA:3253
HP:0000118	Phenotypic abnormality	7486	WRN	ORPHA:902
HP:0000118	Phenotypic abnormality	3891	KRT85	OMIM:602032
HP:0000118	Phenotypic abnormality	5332	PLCB4	OMIM:614669
HP:0000118	Phenotypic abnormality	4784	NFIX	OMIM:602535
HP:0000118	Phenotypic abnormality	5860	QDPR	OMIM:261630
HP:0000118	Phenotypic abnormality	2290	FOXG1	ORPHA:261144
HP:0000118	Phenotypic abnormality	57468	SLC12A5	OMIM:616645
HP:0000118	Phenotypic abnormality	81848	SPRY4	ORPHA:432
HP:0000118	Phenotypic abnormality	128674	PROKR2	ORPHA:432
HP:0000118	Phenotypic abnormality	60675	PROK2	ORPHA:432
HP:0000118	Phenotypic abnormality	6870	TACR3	ORPHA:432
HP:0000118	Phenotypic abnormality	1848	DUSP6	ORPHA:432
HP:0000118	Phenotypic abnormality	26012	NSMF	ORPHA:432
HP:0000118	Phenotypic abnormality	9394	HS6ST1	ORPHA:432
HP:0000118	Phenotypic abnormality	2796	GNRH1	ORPHA:432
HP:0000118	Phenotypic abnormality	2798	GNRHR	ORPHA:432
HP:0000118	Phenotypic abnormality	84634	KISS1R	ORPHA:432
HP:0000118	Phenotypic abnormality	6866	TAC3	ORPHA:432
HP:0000118	Phenotypic abnormality	8822	FGF17	ORPHA:432
HP:0000118	Phenotypic abnormality	3814	KISS1	ORPHA:432
HP:0000118	Phenotypic abnormality	3730	ANOS1	OMIM:308700
HP:0000118	Phenotypic abnormality	2100	ESR2	OMIM:618187
HP:0000118	Phenotypic abnormality	1588	CYP19A1	ORPHA:91
HP:0000118	Phenotypic abnormality	64175	P3H1	OMIM:610915
HP:0000118	Phenotypic abnormality	4929	NR4A2	ORPHA:98808
HP:0000118	Phenotypic abnormality	4929	NR4A2	OMIM:619911
HP:0000118	Phenotypic abnormality	3615	IMPDH2	ORPHA:98808
HP:0000118	Phenotypic abnormality	7054	TH	OMIM:605407
HP:0000118	Phenotypic abnormality	7054	TH	ORPHA:101150
HP:0000118	Phenotypic abnormality	55163	PNPO	ORPHA:79096
HP:0000118	Phenotypic abnormality	55163	PNPO	OMIM:610090
HP:0000118	Phenotypic abnormality	1644	DDC	OMIM:608643
HP:0000118	Phenotypic abnormality	9256	TSPOAP1	ORPHA:101150
HP:0000118	Phenotypic abnormality	57190	SELENON	OMIM:602771
HP:0000118	Phenotypic abnormality	8087	FXR1	OMIM:618823
HP:0000118	Phenotypic abnormality	1073	CFL2	OMIM:610687
HP:0000118	Phenotypic abnormality	9325	TRIP4	ORPHA:486815
HP:0000118	Phenotypic abnormality	3417	IDH1	ORPHA:99646
HP:0000118	Phenotypic abnormality	1716	DGUOK	ORPHA:329314
HP:0000118	Phenotypic abnormality	2218	FKTN	ORPHA:370980
HP:0000118	Phenotypic abnormality	6442	SGCA	OMIM:608099
HP:0000118	Phenotypic abnormality	339855	KY	OMIM:617114
HP:0000118	Phenotypic abnormality	79912	PYROXD1	OMIM:617258
HP:0000118	Phenotypic abnormality	84700	MYO18B	OMIM:616549
HP:0000118	Phenotypic abnormality	7138	TNNT1	OMIM:605355
HP:0000118	Phenotypic abnormality	23676	SMPX	OMIM:301075
HP:0000118	Phenotypic abnormality	6137	RPL13	OMIM:618728
HP:0000118	Phenotypic abnormality	5251	PHEX	ORPHA:89936
HP:0000118	Phenotypic abnormality	90993	CREB3L1	OMIM:616229
HP:0000118	Phenotypic abnormality	26175	LYSET	OMIM:619345
HP:0000118	Phenotypic abnormality	151648	SGO1	OMIM:616201
HP:0000118	Phenotypic abnormality	2771	GNAI2	OMIM:192605
HP:0000118	Phenotypic abnormality	9631	NUP155	OMIM:615770
HP:0000118	Phenotypic abnormality	29119	CTNNA3	OMIM:615616
HP:0000118	Phenotypic abnormality	4635	MYL4	OMIM:617280
HP:0000118	Phenotypic abnormality	3741	KCNA5	OMIM:612240
HP:0000118	Phenotypic abnormality	3053	SERPIND1	OMIM:612356
HP:0000118	Phenotypic abnormality	51086	TNNI3K	OMIM:616117
HP:0000118	Phenotypic abnormality	26511	CHIC2	OMIM:601626
HP:0000118	Phenotypic abnormality	1050	CEBPA	OMIM:601626
HP:0000118	Phenotypic abnormality	2322	FLT3	OMIM:601626
HP:0000118	Phenotypic abnormality	6455	SH3GL1	OMIM:601626
HP:0000118	Phenotypic abnormality	8028	MLLT10	OMIM:601626
HP:0000118	Phenotypic abnormality	8301	PICALM	OMIM:601626
HP:0000118	Phenotypic abnormality	4026	LPP	OMIM:601626
HP:0000118	Phenotypic abnormality	8930	MBD4	OMIM:619975
HP:0000118	Phenotypic abnormality	2120	ETV6	OMIM:616216
HP:0000118	Phenotypic abnormality	2936	GSR	OMIM:618660
HP:0000118	Phenotypic abnormality	80739	MPIG6B	OMIM:617441
HP:0000118	Phenotypic abnormality	150274	HSCB	OMIM:619523
HP:0000118	Phenotypic abnormality	2876	GPX1	OMIM:614164
HP:0000118	Phenotypic abnormality	64376	IKZF5	OMIM:619130
HP:0000118	Phenotypic abnormality	87	ACTN1	OMIM:615193
HP:0000118	Phenotypic abnormality	64805	P2RY12	OMIM:609821
HP:0000118	Phenotypic abnormality	53630	BCO1	OMIM:115300
HP:0000118	Phenotypic abnormality	1577	CYP3A5	OMIM:145500
HP:0000118	Phenotypic abnormality	2784	GNB3	OMIM:145500
HP:0000118	Phenotypic abnormality	8490	RGS5	OMIM:145500
HP:0000118	Phenotypic abnormality	5740	PTGIS	OMIM:145500
HP:0000118	Phenotypic abnormality	118	ADD1	OMIM:145500
HP:0000118	Phenotypic abnormality	481	ATP1B1	OMIM:145500
HP:0000118	Phenotypic abnormality	4009	LMX1A	OMIM:601412
HP:0000118	Phenotypic abnormality	4968	OGG1	OMIM:144700
HP:0000118	Phenotypic abnormality	11236	RNF139	OMIM:144700
HP:0000118	Phenotypic abnormality	55193	PBRM1	OMIM:144700
HP:0000118	Phenotypic abnormality	63036	CELA2A	OMIM:618620
HP:0000118	Phenotypic abnormality	4040	LRP6	OMIM:610947
HP:0000118	Phenotypic abnormality	6934	TCF7L2	OMIM:125853
HP:0000118	Phenotypic abnormality	9479	MAPK8IP1	OMIM:125853
HP:0000118	Phenotypic abnormality	56729	RETN	OMIM:125853
HP:0000118	Phenotypic abnormality	4544	MTNR1B	OMIM:125853
HP:0000118	Phenotypic abnormality	5506	PPP1R3A	OMIM:125853
HP:0000118	Phenotypic abnormality	10644	IGF2BP2	OMIM:125853
HP:0000118	Phenotypic abnormality	5770	PTPN1	OMIM:125853
HP:0000118	Phenotypic abnormality	8660	IRS2	OMIM:125853
HP:0000118	Phenotypic abnormality	3159	HMGA1	OMIM:125853
HP:0000118	Phenotypic abnormality	3667	IRS1	OMIM:125853
HP:0000118	Phenotypic abnormality	169026	SLC30A8	OMIM:125853
HP:0000118	Phenotypic abnormality	2820	GPD2	OMIM:125853
HP:0000118	Phenotypic abnormality	64788	LMF1	OMIM:246650
HP:0000118	Phenotypic abnormality	8471	IRS4	OMIM:301035
HP:0000118	Phenotypic abnormality	6886	TAL1	OMIM:613065
HP:0000118	Phenotypic abnormality	6887	TAL2	OMIM:613065
HP:0000118	Phenotypic abnormality	8013	NR4A3	OMIM:612237
HP:0000118	Phenotypic abnormality	5546	PRCC	OMIM:605074
HP:0000118	Phenotypic abnormality	2308	FOXO1	OMIM:268220
HP:0000118	Phenotypic abnormality	145264	SERPINA12	ORPHA:86923
HP:0000118	Phenotypic abnormality	1411	CRYBA1	OMIM:600881
HP:0000118	Phenotypic abnormality	7784	ZP3	OMIM:617712
HP:0000118	Phenotypic abnormality	22917	ZP1	OMIM:615774
HP:0000118	Phenotypic abnormality	150365	MEI1	OMIM:618431
HP:0000118	Phenotypic abnormality	79703	TOP6BL	OMIM:618432
HP:0000118	Phenotypic abnormality	431705	ASTL	OMIM:619643
HP:0000118	Phenotypic abnormality	7783	ZP2	OMIM:618353
HP:0000118	Phenotypic abnormality	79816	TLE6	OMIM:616814
HP:0000118	Phenotypic abnormality	11078	TRIOBP	OMIM:609823
HP:0000118	Phenotypic abnormality	2487	FRZB	OMIM:165720
HP:0000118	Phenotypic abnormality	265	AMELX	OMIM:301200
HP:0000118	Phenotypic abnormality	84957	RELT	OMIM:618386
HP:0000118	Phenotypic abnormality	8111	GPR68	OMIM:617217
HP:0000118	Phenotypic abnormality	9313	MMP20	OMIM:612529
HP:0000118	Phenotypic abnormality	8823	FGF16	OMIM:309630
HP:0000118	Phenotypic abnormality	152926	PPM1K	OMIM:615135
HP:0000118	Phenotypic abnormality	2700	GJA3	OMIM:601885
HP:0000118	Phenotypic abnormality	1427	CRYGS	OMIM:116100
HP:0000118	Phenotypic abnormality	128866	CHMP4B	OMIM:605387
HP:0000118	Phenotypic abnormality	84189	SLITRK6	OMIM:221200
HP:0000118	Phenotypic abnormality	84146	ZNF644	OMIM:614167
HP:0000118	Phenotypic abnormality	201973	PRIMPOL	OMIM:615420
HP:0000118	Phenotypic abnormality	283375	SLC39A5	OMIM:615946
HP:0000118	Phenotypic abnormality	4043	LRPAP1	OMIM:615431
HP:0000118	Phenotypic abnormality	29894	CPSF1	OMIM:618827
HP:0000118	Phenotypic abnormality	407	ARR3	OMIM:301010
HP:0000118	Phenotypic abnormality	51181	DCXR	ORPHA:2843
HP:0000118	Phenotypic abnormality	51163	DBR1	OMIM:619441
HP:0000118	Phenotypic abnormality	338657	CENATAC	OMIM:620153
HP:0000118	Phenotypic abnormality	54845	ESRP1	OMIM:618013
HP:0000118	Phenotypic abnormality	4363	ABCC1	OMIM:618915
HP:0000118	Phenotypic abnormality	259236	TMIE	OMIM:600971
HP:0000118	Phenotypic abnormality	11178	LZTS1	OMIM:133239
HP:0000118	Phenotypic abnormality	5962	RDX	OMIM:611022
HP:0000118	Phenotypic abnormality	51168	MYO15A	OMIM:600316
HP:0000118	Phenotypic abnormality	7867	MAPKAPK3	OMIM:617111
HP:0000118	Phenotypic abnormality	1495	CTNNA1	OMIM:608970
HP:0000118	Phenotypic abnormality	57534	MIB1	OMIM:615092
HP:0000118	Phenotypic abnormality	85366	MYLK2	OMIM:192600
HP:0000118	Phenotypic abnormality	7153	TOP2A	ORPHA:635
HP:0000118	Phenotypic abnormality	238	ALK	ORPHA:635
HP:0000118	Phenotypic abnormality	389421	LIN28B	ORPHA:635
HP:0000118	Phenotypic abnormality	4004	LMO1	ORPHA:635
HP:0000118	Phenotypic abnormality	64780	MICAL1	OMIM:600512
HP:0000118	Phenotypic abnormality	51083	GAL	OMIM:616461
HP:0000118	Phenotypic abnormality	168507	PKD1L1	OMIM:617205
HP:0000118	Phenotypic abnormality	93	ACVR2B	OMIM:613751
HP:0000118	Phenotypic abnormality	220136	CFAP53	OMIM:614779
HP:0000118	Phenotypic abnormality	100128908	CIROP	OMIM:619702
HP:0000118	Phenotypic abnormality	7512	XPNPEP2	ORPHA:100057
HP:0000118	Phenotypic abnormality	30009	TBX21	OMIM:208550
HP:0000118	Phenotypic abnormality	5732	PTGER2	OMIM:208550
HP:0000118	Phenotypic abnormality	611	OPN1SW	ORPHA:88629
HP:0000118	Phenotypic abnormality	26504	CNNM4	OMIM:217080
HP:0000118	Phenotypic abnormality	90167	FRMD7	OMIM:310700
HP:0000118	Phenotypic abnormality	23268	DNMBP	OMIM:618415
HP:0000118	Phenotypic abnormality	8218	CLTCL1	ORPHA:453510
HP:0000118	Phenotypic abnormality	22999	RIMS1	OMIM:603649
HP:0000118	Phenotypic abnormality	5322	PLA2G5	OMIM:228980
HP:0000118	Phenotypic abnormality	2916	GRM6	OMIM:257270
HP:0000118	Phenotypic abnormality	60506	NYX	OMIM:310500
HP:0000118	Phenotypic abnormality	1576	CYP3A4	OMIM:619073
HP:0000118	Phenotypic abnormality	57105	CYSLTR2	ORPHA:39044
HP:0000118	Phenotypic abnormality	5429	POLH	OMIM:278750
HP:0000118	Phenotypic abnormality	4909	NTF4	OMIM:613100
HP:0000118	Phenotypic abnormality	134430	WDR36	OMIM:609887
HP:0000118	Phenotypic abnormality	136371	ASB10	OMIM:603383
HP:0000118	Phenotypic abnormality	26022	TMEM98	OMIM:615972
HP:0000118	Phenotypic abnormality	3048	HBG2	OMIM:613977
HP:0000118	Phenotypic abnormality	51293	CD320	OMIM:613646
HP:0000118	Phenotypic abnormality	5892	RAD51D	ORPHA:145
HP:0000118	Phenotypic abnormality	580	BARD1	ORPHA:145
HP:0000118	Phenotypic abnormality	2048	EPHB2	OMIM:603688
HP:0000118	Phenotypic abnormality	463	ZFHX3	OMIM:176807
HP:0000118	Phenotypic abnormality	1316	KLF6	OMIM:176807
HP:0000118	Phenotypic abnormality	4601	MXI1	OMIM:176807
HP:0000118	Phenotypic abnormality	8379	MAD1L1	OMIM:176807
HP:0000118	Phenotypic abnormality	6041	RNASEL	OMIM:601518
HP:0000118	Phenotypic abnormality	3553	IL1B	OMIM:613659
HP:0000118	Phenotypic abnormality	3659	IRF1	OMIM:613659
HP:0000118	Phenotypic abnormality	4891	SLC11A2	OMIM:206100
HP:0000118	Phenotypic abnormality	1441	CSF3R	OMIM:162830
HP:0000118	Phenotypic abnormality	2533	FYB1	OMIM:273900
HP:0000118	Phenotypic abnormality	7450	VWF	OMIM:193400
HP:0000118	Phenotypic abnormality	23218	NBEAL2	OMIM:139090
HP:0000118	Phenotypic abnormality	6208	RPS14	ORPHA:86841
HP:0000118	Phenotypic abnormality	83552	MFRP	OMIM:611040
HP:0000118	Phenotypic abnormality	27329	ANGPTL3	OMIM:605019
HP:0000118	Phenotypic abnormality	51311	TLR8	OMIM:301078
HP:0000118	Phenotypic abnormality	6532	SLC6A4	OMIM:164230
HP:0000118	Phenotypic abnormality	114798	SLITRK1	OMIM:613229
HP:0000118	Phenotypic abnormality	6530	SLC6A2	OMIM:604715
HP:0000118	Phenotypic abnormality	27040	LAT	OMIM:617514
HP:0000118	Phenotypic abnormality	916	CD3E	OMIM:615615
HP:0000118	Phenotypic abnormality	915	CD3D	OMIM:615617
HP:0000118	Phenotypic abnormality	2214	FCGR3A	OMIM:615707
HP:0000118	Phenotypic abnormality	3990	LIPC	OMIM:614025
HP:0000118	Phenotypic abnormality	3990	LIPC	ORPHA:140905
HP:0000118	Phenotypic abnormality	1071	CETP	ORPHA:79506
HP:0000118	Phenotypic abnormality	1071	CETP	OMIM:143470
HP:0000118	Phenotypic abnormality	345	APOC3	ORPHA:79506
HP:0000118	Phenotypic abnormality	345	APOC3	OMIM:614028
HP:0000118	Phenotypic abnormality	10845	CLPX	OMIM:618015
HP:0000118	Phenotypic abnormality	7390	UROS	ORPHA:79277
HP:0000118	Phenotypic abnormality	200942	KLHDC8B	OMIM:236000
HP:0000118	Phenotypic abnormality	330	BIRC3	ORPHA:52417
HP:0000118	Phenotypic abnormality	3702	ITK	OMIM:613011
HP:0000118	Phenotypic abnormality	5788	PTPRC	OMIM:619924
HP:0000118	Phenotypic abnormality	22806	IKZF3	OMIM:619437
HP:0000118	Phenotypic abnormality	4773	NFATC2	OMIM:620232
HP:0000118	Phenotypic abnormality	389692	MAFA	OMIM:147630
HP:0000118	Phenotypic abnormality	84660	CCDC62	OMIM:619803
HP:0000118	Phenotypic abnormality	199720	GGN	OMIM:619826
HP:0000118	Phenotypic abnormality	151254	C2CD6	OMIM:619805
HP:0000118	Phenotypic abnormality	11055	ZPBP	OMIM:619799
HP:0000118	Phenotypic abnormality	283417	DPY19L2	OMIM:613958
HP:0000118	Phenotypic abnormality	83893	SPATA16	OMIM:102530
HP:0000118	Phenotypic abnormality	146754	DNAH2	OMIM:619094
HP:0000118	Phenotypic abnormality	1769	DNAH8	OMIM:619095
HP:0000118	Phenotypic abnormality	199223	TTC21A	OMIM:618429
HP:0000118	Phenotypic abnormality	83894	TTC29	OMIM:618745
HP:0000118	Phenotypic abnormality	79846	CFAP69	OMIM:617959
HP:0000118	Phenotypic abnormality	200162	SPAG17	OMIM:619380
HP:0000118	Phenotypic abnormality	116369	SLC26A8	OMIM:606766
HP:0000118	Phenotypic abnormality	144406	CFAP251	OMIM:618152
HP:0000118	Phenotypic abnormality	401024	FSIP2	OMIM:618153
HP:0000118	Phenotypic abnormality	159686	CFAP58	OMIM:619144
HP:0000118	Phenotypic abnormality	122481	AK7	OMIM:617965
HP:0000118	Phenotypic abnormality	6691	SPINK2	OMIM:618091
HP:0000118	Phenotypic abnormality	23092	ARHGAP26	OMIM:607785
HP:0000118	Phenotypic abnormality	79058	ASPSCR1	OMIM:606243
HP:0000118	Phenotypic abnormality	677814	SNORA31	OMIM:619396
HP:0000118	Phenotypic abnormality	1385	CREB1	OMIM:612160
HP:0000118	Phenotypic abnormality	3795	KHK	ORPHA:2056
HP:0000118	Phenotypic abnormality	6757	SSX2	OMIM:300813
HP:0000118	Phenotypic abnormality	7716	VEZF1	OMIM:620247
HP:0000118	Phenotypic abnormality	2059	EPS8	OMIM:615974
HP:0000118	Phenotypic abnormality	102	ADAM10	OMIM:615537
HP:0000118	Phenotypic abnormality	9333	TGM5	ORPHA:263534
HP:0000118	Phenotypic abnormality	8556	CDC14A	OMIM:608653
HP:0000118	Phenotypic abnormality	676	BRDT	OMIM:617644
HP:0000118	Phenotypic abnormality	80705	TSGA10	OMIM:617961
HP:0000118	Phenotypic abnormality	201134	CEP112	OMIM:619044
HP:0000118	Phenotypic abnormality	3455	IFNAR2	OMIM:616669
HP:0000118	Phenotypic abnormality	1066	CES1	OMIM:618057
HP:0000118	Phenotypic abnormality	9364	RAB28	OMIM:615374
HP:0000118	Phenotypic abnormality	54977	SLC25A38	OMIM:205950
HP:0000118	Phenotypic abnormality	5271	SERPINB8	OMIM:617115
HP:0000118	Phenotypic abnormality	3860	KRT13	OMIM:615785
HP:0000118	Phenotypic abnormality	23499	MACF1	ORPHA:572013
HP:0000118	Phenotypic abnormality	387119	CEP85L	ORPHA:572013
HP:0000118	Phenotypic abnormality	2554	GABRA1	ORPHA:33069
HP:0000118	Phenotypic abnormality	6324	SCN1B	ORPHA:33069
HP:0000118	Phenotypic abnormality	57526	PCDH19	ORPHA:33069
HP:0000118	Phenotypic abnormality	2566	GABRG2	ORPHA:33069
HP:0000118	Phenotypic abnormality	23030	KDM4B	OMIM:619320
HP:0000118	Phenotypic abnormality	7846	TUBA1A	ORPHA:171680
HP:0000118	Phenotypic abnormality	347733	TUBB2B	ORPHA:300573
HP:0000118	Phenotypic abnormality	203068	TUBB	OMIM:615771
HP:0000118	Phenotypic abnormality	55252	ASXL2	OMIM:617190
HP:0000118	Phenotypic abnormality	2475	MTOR	ORPHA:457485
HP:0000118	Phenotypic abnormality	2050	EPHB4	ORPHA:137667
HP:0000118	Phenotypic abnormality	2050	EPHB4	OMIM:618196
HP:0000118	Phenotypic abnormality	5921	RASA1	ORPHA:137667
HP:0000118	Phenotypic abnormality	5921	RASA1	ORPHA:90307
HP:0000118	Phenotypic abnormality	5921	RASA1	OMIM:608354
HP:0000118	Phenotypic abnormality	440275	EIF2AK4	ORPHA:199241
HP:0000118	Phenotypic abnormality	5313	PKLR	OMIM:266200
HP:0000118	Phenotypic abnormality	5313	PKLR	ORPHA:766
HP:0000118	Phenotypic abnormality	56947	MFF	ORPHA:485421
HP:0000118	Phenotypic abnormality	26053	AUTS2	OMIM:615834
HP:0000118	Phenotypic abnormality	26053	AUTS2	ORPHA:352490
HP:0000118	Phenotypic abnormality	242	ALOX12B	OMIM:242100
HP:0000118	Phenotypic abnormality	59344	ALOXE3	OMIM:242100
HP:0000118	Phenotypic abnormality	4014	LORICRIN	OMIM:604117
HP:0000118	Phenotypic abnormality	4014	LORICRIN	ORPHA:79395
HP:0000118	Phenotypic abnormality	204219	CERS3	OMIM:615023
HP:0000118	Phenotypic abnormality	285848	PNPLA1	OMIM:615024
HP:0000118	Phenotypic abnormality	121214	SDR9C7	OMIM:617574
HP:0000118	Phenotypic abnormality	79092	CARD14	OMIM:173200
HP:0000118	Phenotypic abnormality	8710	SERPINB7	OMIM:615598
HP:0000118	Phenotypic abnormality	3868	KRT16	ORPHA:2199
HP:0000118	Phenotypic abnormality	3857	KRT9	ORPHA:2199
HP:0000118	Phenotypic abnormality	3848	KRT1	ORPHA:2199
HP:0000118	Phenotypic abnormality	488	ATP2A2	ORPHA:79151
HP:0000118	Phenotypic abnormality	643418	LIPN	OMIM:613943
HP:0000118	Phenotypic abnormality	1828	DSG1	OMIM:615508
HP:0000118	Phenotypic abnormality	1828	DSG1	OMIM:148700
HP:0000118	Phenotypic abnormality	80326	WNT10A	OMIM:257980
HP:0000118	Phenotypic abnormality	79719	AAGAB	OMIM:148600
HP:0000118	Phenotypic abnormality	79719	AAGAB	ORPHA:79501
HP:0000118	Phenotypic abnormality	7373	COL14A1	ORPHA:79501
HP:0000118	Phenotypic abnormality	64131	XYLT1	OMIM:264800
HP:0000118	Phenotypic abnormality	699	BUB1	OMIM:620183
HP:0000118	Phenotypic abnormality	10128	LRPPRC	OMIM:220111
HP:0000118	Phenotypic abnormality	11212	PLPBP	OMIM:617290
HP:0000118	Phenotypic abnormality	11212	PLPBP	ORPHA:3006
HP:0000118	Phenotypic abnormality	54539	NDUFB11	ORPHA:2609
HP:0000118	Phenotypic abnormality	25915	NDUFAF3	ORPHA:2609
HP:0000118	Phenotypic abnormality	51103	NDUFAF1	ORPHA:2609
HP:0000118	Phenotypic abnormality	91942	NDUFAF2	ORPHA:2609
HP:0000118	Phenotypic abnormality	51300	TIMMDC1	ORPHA:2609
HP:0000118	Phenotypic abnormality	4716	NDUFB10	ORPHA:2609
HP:0000118	Phenotypic abnormality	4723	NDUFV1	ORPHA:2609
HP:0000118	Phenotypic abnormality	55572	FOXRED1	ORPHA:2609
HP:0000118	Phenotypic abnormality	284184	NDUFAF8	ORPHA:2609
HP:0000118	Phenotypic abnormality	55863	TMEM126B	ORPHA:2609
HP:0000118	Phenotypic abnormality	4729	NDUFV2	ORPHA:2609
HP:0000118	Phenotypic abnormality	4694	NDUFA1	ORPHA:2609
HP:0000118	Phenotypic abnormality	4720	NDUFS2	ORPHA:2609
HP:0000118	Phenotypic abnormality	4724	NDUFS4	ORPHA:2609
HP:0000118	Phenotypic abnormality	4726	NDUFS6	ORPHA:2609
HP:0000118	Phenotypic abnormality	4728	NDUFS8	ORPHA:2609
HP:0000118	Phenotypic abnormality	4722	NDUFS3	ORPHA:2609
HP:0000118	Phenotypic abnormality	79133	NDUFAF5	ORPHA:2609
HP:0000118	Phenotypic abnormality	126328	NDUFA11	ORPHA:2609
HP:0000118	Phenotypic abnormality	4709	NDUFB3	ORPHA:2609
HP:0000118	Phenotypic abnormality	80224	NUBPL	ORPHA:2609
HP:0000118	Phenotypic abnormality	29078	NDUFAF4	ORPHA:2609
HP:0000118	Phenotypic abnormality	374291	NDUFS7	ORPHA:2609
HP:0000118	Phenotypic abnormality	4700	NDUFA6	ORPHA:2609
HP:0000118	Phenotypic abnormality	4719	NDUFS1	ORPHA:2609
HP:0000118	Phenotypic abnormality	4715	NDUFB9	ORPHA:2609
HP:0000118	Phenotypic abnormality	10664	CTCF	ORPHA:363611
HP:0000118	Phenotypic abnormality	79989	IFT56	OMIM:619534
HP:0000118	Phenotypic abnormality	2334	AFF2	OMIM:309548
HP:0000118	Phenotypic abnormality	10526	IPO8	OMIM:619472
HP:0000118	Phenotypic abnormality	6651	SON	ORPHA:500150
HP:0000118	Phenotypic abnormality	5167	ENPP1	ORPHA:51608
HP:0000118	Phenotypic abnormality	5167	ENPP1	OMIM:208000
HP:0000118	Phenotypic abnormality	368	ABCC6	ORPHA:51608
HP:0000118	Phenotypic abnormality	28962	OSTM1	ORPHA:85179
HP:0000118	Phenotypic abnormality	4705	NDUFA10	OMIM:618243
HP:0000118	Phenotypic abnormality	11274	USP18	OMIM:617397
HP:0000118	Phenotypic abnormality	6135	RPL11	OMIM:612562
HP:0000118	Phenotypic abnormality	5828	PEX2	OMIM:614866
HP:0000118	Phenotypic abnormality	1788	DNMT3A	OMIM:615879
HP:0000118	Phenotypic abnormality	9570	GOSR2	OMIM:620166
HP:0000118	Phenotypic abnormality	501	ALDH7A1	ORPHA:3006
HP:0000118	Phenotypic abnormality	501	ALDH7A1	OMIM:266100
HP:0000118	Phenotypic abnormality	5205	ATP8B1	OMIM:147480
HP:0000118	Phenotypic abnormality	284361	EMC10	OMIM:619264
HP:0000118	Phenotypic abnormality	5244	ABCB4	OMIM:614972
HP:0000118	Phenotypic abnormality	56479	KCNQ5	OMIM:617601
HP:0000118	Phenotypic abnormality	10320	IKZF1	OMIM:616873
HP:0000118	Phenotypic abnormality	3557	IL1RN	OMIM:612852
HP:0000118	Phenotypic abnormality	55210	ATAD3A	OMIM:618810
HP:0000118	Phenotypic abnormality	5826	ABCD4	OMIM:614857
HP:0000118	Phenotypic abnormality	8905	AP1S2	OMIM:304340
HP:0000118	Phenotypic abnormality	1528	CYB5A	ORPHA:621
HP:0000118	Phenotypic abnormality	1727	CYB5R3	ORPHA:621
HP:0000118	Phenotypic abnormality	8792	TNFRSF11A	OMIM:174810
HP:0000118	Phenotypic abnormality	545	ATR	OMIM:614564
HP:0000118	Phenotypic abnormality	7508	XPC	OMIM:278720
HP:0000118	Phenotypic abnormality	4072	EPCAM	ORPHA:92050
HP:0000118	Phenotypic abnormality	105371045	PERCC1	ORPHA:92050
HP:0000118	Phenotypic abnormality	3938	LCT	OMIM:223000
HP:0000118	Phenotypic abnormality	4175	MCM6	OMIM:223100
HP:0000118	Phenotypic abnormality	6399	TRAPPC2	ORPHA:93284
HP:0000118	Phenotypic abnormality	5696	PSMB8	OMIM:256040
HP:0000118	Phenotypic abnormality	5692	PSMB4	OMIM:617591
HP:0000118	Phenotypic abnormality	5698	PSMB9	OMIM:617591
HP:0000118	Phenotypic abnormality	4952	OCRL	OMIM:309000
HP:0000118	Phenotypic abnormality	367	AR	ORPHA:90797
HP:0000118	Phenotypic abnormality	54766	BTG4	OMIM:619009
HP:0000118	Phenotypic abnormality	2099	ESR1	OMIM:615363
HP:0000118	Phenotypic abnormality	84133	ZNRF3	ORPHA:1501
HP:0000118	Phenotypic abnormality	7157	TP53	ORPHA:1501
HP:0000118	Phenotypic abnormality	1499	CTNNB1	ORPHA:1501
HP:0000118	Phenotypic abnormality	1029	CDKN2A	ORPHA:1501
HP:0000118	Phenotypic abnormality	7015	TERT	ORPHA:1501
HP:0000118	Phenotypic abnormality	171023	ASXL1	ORPHA:98850
HP:0000118	Phenotypic abnormality	54790	TET2	ORPHA:98850
HP:0000118	Phenotypic abnormality	54790	TET2	ORPHA:824
HP:0000118	Phenotypic abnormality	867	CBL	ORPHA:98850
HP:0000118	Phenotypic abnormality	861	RUNX1	ORPHA:98850
HP:0000118	Phenotypic abnormality	6427	SRSF2	ORPHA:98850
HP:0000118	Phenotypic abnormality	811	CALR	ORPHA:824
HP:0000118	Phenotypic abnormality	4352	MPL	ORPHA:824
HP:0000118	Phenotypic abnormality	3717	JAK2	ORPHA:824
HP:0000118	Phenotypic abnormality	8314	BAP1	ORPHA:50251
HP:0000118	Phenotypic abnormality	84868	HAVCR2	ORPHA:86884
HP:0000118	Phenotypic abnormality	4598	MVK	OMIM:260920
HP:0000118	Phenotypic abnormality	5314	PKHD1	ORPHA:53035
HP:0000118	Phenotypic abnormality	2038	EPB42	ORPHA:822
HP:0000118	Phenotypic abnormality	6521	SLC4A1	ORPHA:822
HP:0000118	Phenotypic abnormality	6710	SPTB	ORPHA:822
HP:0000118	Phenotypic abnormality	6710	SPTB	ORPHA:288
HP:0000118	Phenotypic abnormality	6708	SPTA1	ORPHA:822
HP:0000118	Phenotypic abnormality	6708	SPTA1	ORPHA:288
HP:0000118	Phenotypic abnormality	286	ANK1	ORPHA:822
HP:0000118	Phenotypic abnormality	2035	EPB41	ORPHA:288
HP:0000118	Phenotypic abnormality	2995	GYPC	ORPHA:288
HP:0000118	Phenotypic abnormality	114548	NLRP3	OMIM:120100
HP:0000118	Phenotypic abnormality	7187	TRAF3	ORPHA:1930
HP:0000118	Phenotypic abnormality	81622	UNC93B1	ORPHA:1930
HP:0000118	Phenotypic abnormality	148022	TICAM1	ORPHA:1930
HP:0000118	Phenotypic abnormality	7098	TLR3	ORPHA:1930
HP:0000118	Phenotypic abnormality	29110	TBK1	ORPHA:1930
HP:0000118	Phenotypic abnormality	1135	CHRNA2	OMIM:610353
HP:0000118	Phenotypic abnormality	3032	HADHB	ORPHA:746
HP:0000118	Phenotypic abnormality	3030	HADHA	ORPHA:746
HP:0000118	Phenotypic abnormality	157657	CFAP418	OMIM:614500
HP:0000118	Phenotypic abnormality	5961	PRPH2	OMIM:169150
HP:0000118	Phenotypic abnormality	6499	SKIC2	ORPHA:84064
HP:0000118	Phenotypic abnormality	23729	SHPK	OMIM:617213
HP:0000118	Phenotypic abnormality	57670	KIAA1549	OMIM:618613
HP:0000118	Phenotypic abnormality	83723	TLCD3B	OMIM:619531
HP:0000118	Phenotypic abnormality	4692	NDN	ORPHA:177904
HP:0000118	Phenotypic abnormality	4692	NDN	ORPHA:177901
HP:0000118	Phenotypic abnormality	4692	NDN	ORPHA:98754
HP:0000118	Phenotypic abnormality	7874	USP7	ORPHA:500055
HP:0000118	Phenotypic abnormality	10524	KAT5	OMIM:619103
HP:0000118	Phenotypic abnormality	1182	CLCN3	OMIM:619512
HP:0000118	Phenotypic abnormality	51319	RSRC1	OMIM:618402
HP:0000118	Phenotypic abnormality	6334	SCN8A	OMIM:614306
HP:0000118	Phenotypic abnormality	340665	CYP26C1	ORPHA:398189
HP:0000118	Phenotypic abnormality	57538	ALPK3	OMIM:618052
HP:0000118	Phenotypic abnormality	171019	ADAMTS19	OMIM:620067
HP:0000118	Phenotypic abnormality	6445	SGCG	ORPHA:353
HP:0000118	Phenotypic abnormality	282996	RBM20	OMIM:613172
HP:0000118	Phenotypic abnormality	6533	SLC6A6	OMIM:145350
HP:0000118	Phenotypic abnormality	10060	ABCC9	OMIM:619719
HP:0000118	Phenotypic abnormality	6440	SFTPC	ORPHA:2032
HP:0000118	Phenotypic abnormality	729238	SFTPA2	ORPHA:2032
HP:0000118	Phenotypic abnormality	79991	STN1	ORPHA:2032
HP:0000118	Phenotypic abnormality	653509	SFTPA1	ORPHA:2032
HP:0000118	Phenotypic abnormality	21	ABCA3	ORPHA:2032
HP:0000118	Phenotypic abnormality	21	ABCA3	OMIM:610921
HP:0000118	Phenotypic abnormality	727897	MUC5B	ORPHA:2032
HP:0000118	Phenotypic abnormality	10144	FAM13A	ORPHA:2032
HP:0000118	Phenotypic abnormality	23250	ATP11A	ORPHA:2032
HP:0000118	Phenotypic abnormality	91039	DPP9	ORPHA:2032
HP:0000118	Phenotypic abnormality	51750	RTEL1	ORPHA:2032
HP:0000118	Phenotypic abnormality	7012	TERC	ORPHA:2032
HP:0000118	Phenotypic abnormality	5073	PARN	ORPHA:2032
HP:0000118	Phenotypic abnormality	5073	PARN	OMIM:616371
HP:0000118	Phenotypic abnormality	25981	DNAH1	ORPHA:244
HP:0000118	Phenotypic abnormality	115948	ODAD3	ORPHA:244
HP:0000118	Phenotypic abnormality	54768	HYDIN	ORPHA:244
HP:0000118	Phenotypic abnormality	352909	DNAAF3	ORPHA:244
HP:0000118	Phenotypic abnormality	27148	STK36	ORPHA:244
HP:0000118	Phenotypic abnormality	51314	NME8	ORPHA:244
HP:0000118	Phenotypic abnormality	92749	DRC1	ORPHA:244
HP:0000118	Phenotypic abnormality	54970	TTC12	ORPHA:244
HP:0000118	Phenotypic abnormality	152110	NEK10	ORPHA:244
HP:0000118	Phenotypic abnormality	2302	FOXJ1	ORPHA:244
HP:0000118	Phenotypic abnormality	221421	RSPH9	ORPHA:244
HP:0000118	Phenotypic abnormality	85478	CCDC65	ORPHA:244
HP:0000118	Phenotypic abnormality	55036	CCDC40	ORPHA:244
HP:0000118	Phenotypic abnormality	51364	ZMYND10	ORPHA:244
HP:0000118	Phenotypic abnormality	64446	DNAI2	ORPHA:244
HP:0000118	Phenotypic abnormality	6674	SPAG1	ORPHA:244
HP:0000118	Phenotypic abnormality	83544	DNAL1	ORPHA:244
HP:0000118	Phenotypic abnormality	89765	RSPH1	ORPHA:244
HP:0000118	Phenotypic abnormality	83538	ODAD4	ORPHA:244
HP:0000118	Phenotypic abnormality	200373	CFAP221	ORPHA:244
HP:0000118	Phenotypic abnormality	374407	DNAJB13	ORPHA:244
HP:0000118	Phenotypic abnormality	55172	DNAAF2	ORPHA:244
HP:0000118	Phenotypic abnormality	161582	DNAAF4	ORPHA:244
HP:0000118	Phenotypic abnormality	2622	GAS8	ORPHA:244
HP:0000118	Phenotypic abnormality	23639	DNAAF11	ORPHA:244
HP:0000118	Phenotypic abnormality	27019	DNAI1	ORPHA:244
HP:0000118	Phenotypic abnormality	345895	RSPH4A	ORPHA:244
HP:0000118	Phenotypic abnormality	54919	DNAAF5	ORPHA:244
HP:0000118	Phenotypic abnormality	388389	CCDC103	ORPHA:244
HP:0000118	Phenotypic abnormality	93233	ODAD1	ORPHA:244
HP:0000118	Phenotypic abnormality	55130	ODAD2	ORPHA:244
HP:0000118	Phenotypic abnormality	1767	DNAH5	ORPHA:244
HP:0000118	Phenotypic abnormality	83861	RSPH3	ORPHA:244
HP:0000118	Phenotypic abnormality	345643	MCIDAS	ORPHA:244
HP:0000118	Phenotypic abnormality	56683	CFAP298	ORPHA:244
HP:0000118	Phenotypic abnormality	79925	SPEF2	ORPHA:244
HP:0000118	Phenotypic abnormality	10309	CCNO	ORPHA:244
HP:0000118	Phenotypic abnormality	115399	LRRC56	ORPHA:244
HP:0000118	Phenotypic abnormality	139212	DNAAF6	ORPHA:244
HP:0000118	Phenotypic abnormality	123872	DNAAF1	ORPHA:244
HP:0000118	Phenotypic abnormality	85016	CFAP300	ORPHA:244
HP:0000118	Phenotypic abnormality	339829	CCDC39	ORPHA:244
HP:0000118	Phenotypic abnormality	8701	DNAH11	ORPHA:244
HP:0000118	Phenotypic abnormality	1770	DNAH9	ORPHA:244
HP:0000118	Phenotypic abnormality	246176	GAS2L2	ORPHA:244
HP:0000118	Phenotypic abnormality	6439	SFTPB	OMIM:265120
HP:0000118	Phenotypic abnormality	3115	HLA-DPB1	ORPHA:133
HP:0000118	Phenotypic abnormality	1438	CSF2RA	OMIM:300770
HP:0000118	Phenotypic abnormality	1439	CSF2RB	OMIM:614370
HP:0000118	Phenotypic abnormality	10568	SLC34A2	ORPHA:60025
HP:0000118	Phenotypic abnormality	10551	AGR2	OMIM:620233
HP:0000118	Phenotypic abnormality	7080	NKX2-1	OMIM:610978
HP:0000118	Phenotypic abnormality	659	BMPR2	OMIM:265450
HP:0000118	Phenotypic abnormality	80232	WDR26	OMIM:617616
HP:0000118	Phenotypic abnormality	80232	WDR26	ORPHA:513456
HP:0000118	Phenotypic abnormality	10625	IVNS1ABP	OMIM:618969
HP:0000118	Phenotypic abnormality	3932	LCK	OMIM:615758
HP:0000118	Phenotypic abnormality	149371	EXOC8	OMIM:619076
HP:0000118	Phenotypic abnormality	55275	VPS53	OMIM:615851
HP:0000118	Phenotypic abnormality	3778	KCNMA1	OMIM:609446
HP:0000118	Phenotypic abnormality	51075	TMX2	OMIM:618730
HP:0000118	Phenotypic abnormality	84274	COQ5	OMIM:619028
HP:0000118	Phenotypic abnormality	5833	PCYT2	OMIM:618770
HP:0000118	Phenotypic abnormality	3658	IREB2	OMIM:618451
HP:0000118	Phenotypic abnormality	283989	TSEN54	ORPHA:2524
HP:0000118	Phenotypic abnormality	116461	TSEN15	ORPHA:2524
HP:0000118	Phenotypic abnormality	79042	TSEN34	ORPHA:2524
HP:0000118	Phenotypic abnormality	80746	TSEN2	ORPHA:2524
HP:0000118	Phenotypic abnormality	51091	SEPSECS	ORPHA:2524
HP:0000118	Phenotypic abnormality	23031	MAST3	OMIM:620115
HP:0000118	Phenotypic abnormality	2558	GABRA5	OMIM:618559
HP:0000118	Phenotypic abnormality	5813	PURA	ORPHA:314655
HP:0000118	Phenotypic abnormality	8425	LTBP4	OMIM:613177
HP:0000118	Phenotypic abnormality	6231	RPS26	OMIM:613309
HP:0000118	Phenotypic abnormality	6598	SMARCB1	OMIM:614608
HP:0000118	Phenotypic abnormality	9493	KIF23	ORPHA:98870
HP:0000118	Phenotypic abnormality	29127	RACGAP1	ORPHA:98870
HP:0000118	Phenotypic abnormality	5825	ABCD3	OMIM:616278
HP:0000118	Phenotypic abnormality	1137	CHRNA4	ORPHA:98784
HP:0000118	Phenotypic abnormality	57010	CABP4	ORPHA:98784
HP:0000118	Phenotypic abnormality	1141	CHRNB2	ORPHA:98784
HP:0000118	Phenotypic abnormality	1392	CRH	ORPHA:98784
HP:0000118	Phenotypic abnormality	1298	COL9A2	OMIM:600204
HP:0000118	Phenotypic abnormality	3872	KRT17	ORPHA:2309
HP:0000118	Phenotypic abnormality	3853	KRT6A	ORPHA:2309
HP:0000118	Phenotypic abnormality	3854	KRT6B	ORPHA:2309
HP:0000118	Phenotypic abnormality	4035	LRP1	OMIM:604093
HP:0000118	Phenotypic abnormality	10161	LPAR6	OMIM:278150
HP:0000118	Phenotypic abnormality	200879	LIPH	OMIM:604379
HP:0000118	Phenotypic abnormality	1906	EDN1	ORPHA:137888
HP:0000118	Phenotypic abnormality	2773	GNAI3	ORPHA:137888
HP:0000118	Phenotypic abnormality	2773	GNAI3	OMIM:602483
HP:0000118	Phenotypic abnormality	1107	CHD3	OMIM:618205
HP:0000118	Phenotypic abnormality	25792	CIZ1	ORPHA:420492
HP:0000118	Phenotypic abnormality	22854	NTNG1	ORPHA:3095
HP:0000118	Phenotypic abnormality	1813	DRD2	ORPHA:36899
HP:0000118	Phenotypic abnormality	8910	SGCE	ORPHA:36899
HP:0000118	Phenotypic abnormality	8910	SGCE	OMIM:159900
HP:0000118	Phenotypic abnormality	79734	KCTD17	ORPHA:36899
HP:0000118	Phenotypic abnormality	1743	DLST	ORPHA:29072
HP:0000118	Phenotypic abnormality	8402	SLC25A11	ORPHA:29072
HP:0000118	Phenotypic abnormality	54949	SDHAF2	ORPHA:29072
HP:0000118	Phenotypic abnormality	55654	TMEM127	ORPHA:29072
HP:0000118	Phenotypic abnormality	4149	MAX	ORPHA:29072
HP:0000118	Phenotypic abnormality	11315	PARK7	ORPHA:2828
HP:0000118	Phenotypic abnormality	120892	LRRK2	ORPHA:2828
HP:0000118	Phenotypic abnormality	6622	SNCA	ORPHA:2828
HP:0000118	Phenotypic abnormality	65018	PINK1	ORPHA:2828
HP:0000118	Phenotypic abnormality	5071	PRKN	ORPHA:2828
HP:0000118	Phenotypic abnormality	3781	KCNN2	OMIM:619725
HP:0000118	Phenotypic abnormality	2034	EPAS1	ORPHA:276621
HP:0000118	Phenotypic abnormality	79651	RHBDF2	ORPHA:2198
HP:0000118	Phenotypic abnormality	4437	MSH3	ORPHA:480536
HP:0000118	Phenotypic abnormality	51284	TLR7	OMIM:301080
HP:0000118	Phenotypic abnormality	285282	RABL3	ORPHA:1333
HP:0000118	Phenotypic abnormality	23022	PALLD	ORPHA:1333
HP:0000118	Phenotypic abnormality	462	SERPINC1	OMIM:613118
HP:0000118	Phenotypic abnormality	4907	NT5E	ORPHA:289601
HP:0000118	Phenotypic abnormality	2159	F10	ORPHA:328
HP:0000118	Phenotypic abnormality	5308	PITX2	OMIM:180550
HP:0000118	Phenotypic abnormality	710	SERPING1	ORPHA:100050
HP:0000118	Phenotypic abnormality	50674	NEUROG3	ORPHA:83620
HP:0000118	Phenotypic abnormality	3490	IGFBP7	OMIM:614224
HP:0000118	Phenotypic abnormality	58495	OVOL2	OMIM:122000
HP:0000118	Phenotypic abnormality	58495	OVOL2	ORPHA:98973
HP:0000118	Phenotypic abnormality	27151	CPAMD8	OMIM:617319
HP:0000118	Phenotypic abnormality	30813	VSX1	ORPHA:98973
HP:0000118	Phenotypic abnormality	79977	GRHL2	ORPHA:98973
HP:0000118	Phenotypic abnormality	7068	THRB	OMIM:274300
HP:0000118	Phenotypic abnormality	1584	CYP11B1	OMIM:202010
HP:0000118	Phenotypic abnormality	1584	CYP11B1	ORPHA:90795
HP:0000118	Phenotypic abnormality	727	C5	OMIM:609536
HP:0000118	Phenotypic abnormality	729	C6	OMIM:612446
HP:0000118	Phenotypic abnormality	6573	SLC19A1	OMIM:601775
HP:0000118	Phenotypic abnormality	2694	CBLIF	OMIM:261000
HP:0000118	Phenotypic abnormality	6005	RHAG	ORPHA:3203
HP:0000118	Phenotypic abnormality	6005	RHAG	ORPHA:71275
HP:0000118	Phenotypic abnormality	6006	RHCE	ORPHA:71275
HP:0000118	Phenotypic abnormality	6795	AURKC	OMIM:243060
HP:0000118	Phenotypic abnormality	89876	CFAP91	OMIM:619177
HP:0000118	Phenotypic abnormality	2672	GFI1	ORPHA:486
HP:0000118	Phenotypic abnormality	5950	RBP4	OMIM:616428
HP:0000118	Phenotypic abnormality	7286	TUFT1	OMIM:607655
HP:0000118	Phenotypic abnormality	5519	PPP2R1B	OMIM:211980
HP:0000118	Phenotypic abnormality	1326	MAP3K8	OMIM:211980
HP:0000118	Phenotypic abnormality	50833	TAS2R16	OMIM:103780
HP:0000118	Phenotypic abnormality	125	ADH1B	OMIM:103780
HP:0000118	Phenotypic abnormality	10388	SYCP2	OMIM:258150
HP:0000118	Phenotypic abnormality	375307	CATIP	OMIM:619379
HP:0000118	Phenotypic abnormality	145645	TERB2	OMIM:619645
HP:0000118	Phenotypic abnormality	283847	TERB1	OMIM:619646
HP:0000118	Phenotypic abnormality	54456	MOV10L1	OMIM:619878
HP:0000118	Phenotypic abnormality	158401	SHOC1	OMIM:619949
HP:0000118	Phenotypic abnormality	285498	RNF212	OMIM:619673
HP:0000118	Phenotypic abnormality	1407	CRY1	OMIM:614163
HP:0000118	Phenotypic abnormality	85007	PHYKPL	OMIM:615011
HP:0000118	Phenotypic abnormality	8914	TIMELESS	OMIM:620015
HP:0000118	Phenotypic abnormality	8989	TRPA1	OMIM:615040
HP:0000118	Phenotypic abnormality	199713	NLRP7	OMIM:231090
HP:0000118	Phenotypic abnormality	154288	KHDC3L	OMIM:614293
HP:0000118	Phenotypic abnormality	64902	AGXT2	OMIM:210100
HP:0000118	Phenotypic abnormality	55779	CFAP44	OMIM:617593
HP:0000118	Phenotypic abnormality	284382	ACTL9	OMIM:619258
HP:0000118	Phenotypic abnormality	9154	SLC28A1	OMIM:618477
HP:0000118	Phenotypic abnormality	27327	TNRC6A	OMIM:618074
HP:0000118	Phenotypic abnormality	730	C7	OMIM:610102
HP:0000118	Phenotypic abnormality	153	ADRB1	OMIM:618591
HP:0000118	Phenotypic abnormality	84074	QRICH2	OMIM:618341
HP:0000118	Phenotypic abnormality	80726	IQCN	OMIM:620170
HP:0000118	Phenotypic abnormality	678	ZFP36L2	OMIM:620154
HP:0000118	Phenotypic abnormality	283677	REC114	OMIM:619176
HP:0000118	Phenotypic abnormality	140801	RPL10L	OMIM:619689
HP:0000118	Phenotypic abnormality	144132	DNHD1	OMIM:619712
HP:0000118	Phenotypic abnormality	196385	DNAH10	OMIM:619515
HP:0000118	Phenotypic abnormality	286151	FBXO43	OMIM:619696
HP:0000118	Phenotypic abnormality	8288	EPX	OMIM:261500
HP:0000118	Phenotypic abnormality	1733	DIO1	OMIM:619855
HP:0000118	Phenotypic abnormality	3454	IFNAR1	OMIM:619935
HP:0000118	Phenotypic abnormality	10621	POLR3F	OMIM:619872
HP:0000118	Phenotypic abnormality	23581	CASP14	OMIM:617320
HP:0000118	Phenotypic abnormality	2070	EYA4	ORPHA:217622
HP:0000118	Phenotypic abnormality	286410	ATP11C	OMIM:301015
HP:0000118	Phenotypic abnormality	3945	LDHB	OMIM:614128
HP:0000118	Phenotypic abnormality	174	AFP	OMIM:615969
HP:0000118	Phenotypic abnormality	631	BFSP1	OMIM:611391
HP:0000118	Phenotypic abnormality	4284	MIP	OMIM:615274
HP:0000118	Phenotypic abnormality	79443	FYCO1	OMIM:610019
HP:0000118	Phenotypic abnormality	55765	INAVA	OMIM:618077
HP:0000118	Phenotypic abnormality	6554	SLC10A1	OMIM:619256
HP:0000118	Phenotypic abnormality	3321	IGSF3	OMIM:149700
HP:0000118	Phenotypic abnormality	10137	RBM12	OMIM:617629
HP:0000118	Phenotypic abnormality	9015	TAF1A	ORPHA:154
HP:0000118	Phenotypic abnormality	7112	TMPO	ORPHA:154
HP:0000118	Phenotypic abnormality	9464	HAND2	ORPHA:154
HP:0000118	Phenotypic abnormality	10486	CAP2	ORPHA:154
HP:0000118	Phenotypic abnormality	7168	TPM1	ORPHA:154
HP:0000118	Phenotypic abnormality	27063	ANKRD1	ORPHA:154
HP:0000118	Phenotypic abnormality	8048	CSRP3	ORPHA:154
HP:0000118	Phenotypic abnormality	3910	LAMA4	ORPHA:154
HP:0000118	Phenotypic abnormality	5350	PLN	ORPHA:154
HP:0000118	Phenotypic abnormality	91624	NEXN	ORPHA:154
HP:0000118	Phenotypic abnormality	9529	BAG5	ORPHA:154
HP:0000118	Phenotypic abnormality	2274	FHL2	ORPHA:154
HP:0000118	Phenotypic abnormality	57798	GATAD1	ORPHA:154
HP:0000118	Phenotypic abnormality	85452	CFAP74	OMIM:620197
HP:0000118	Phenotypic abnormality	10734	STAG3	OMIM:615723
HP:0000118	Phenotypic abnormality	4978	OPCML	OMIM:167000
HP:0000118	Phenotypic abnormality	4486	MST1R	OMIM:617075
HP:0000118	Phenotypic abnormality	57623	ZFAT	OMIM:608175
HP:0000118	Phenotypic abnormality	284	ANGPT1	OMIM:619361
HP:0000118	Phenotypic abnormality	26509	MYOF	OMIM:619366
HP:0000118	Phenotypic abnormality	113457	TUBA3D	OMIM:617928
HP:0000118	Phenotypic abnormality	3273	HRG	OMIM:613116
HP:0000118	Phenotypic abnormality	9180	OSMR	OMIM:105250
HP:0000118	Phenotypic abnormality	1475	CSTA	OMIM:607936
HP:0000118	Phenotypic abnormality	4205	MEF2A	OMIM:608320
HP:0000118	Phenotypic abnormality	3849	KRT2	ORPHA:455
HP:0000118	Phenotypic abnormality	27032	ATP2C1	ORPHA:2841
HP:0000118	Phenotypic abnormality	5915	RARB	ORPHA:2470
HP:0000118	Phenotypic abnormality	3651	PDX1	OMIM:260370
HP:0000118	Phenotypic abnormality	3561	IL2RG	ORPHA:276
HP:0000118	Phenotypic abnormality	3561	IL2RG	ORPHA:39041
HP:0000118	Phenotypic abnormality	5880	RAC2	OMIM:618986
HP:0000118	Phenotypic abnormality	939	CD27	OMIM:615122
HP:0000118	Phenotypic abnormality	3162	HMOX1	OMIM:614034
HP:0000118	Phenotypic abnormality	10525	HYOU1	OMIM:233600
HP:0000118	Phenotypic abnormality	65082	VPS33A	OMIM:617303
HP:0000118	Phenotypic abnormality	65082	VPS33A	ORPHA:505248
HP:0000118	Phenotypic abnormality	1536	CYBB	ORPHA:379
HP:0000118	Phenotypic abnormality	4688	NCF2	ORPHA:379
HP:0000118	Phenotypic abnormality	1535	CYBA	ORPHA:379
HP:0000118	Phenotypic abnormality	4689	NCF4	ORPHA:379
HP:0000118	Phenotypic abnormality	79415	CYBC1	ORPHA:379
HP:0000118	Phenotypic abnormality	1991	ELANE	ORPHA:2686
HP:0000118	Phenotypic abnormality	7037	TFRC	OMIM:616740
HP:0000118	Phenotypic abnormality	50619	DEF6	OMIM:619573
HP:0000118	Phenotypic abnormality	92579	G6PC3	OMIM:612541
HP:0000118	Phenotypic abnormality	130589	GALM	ORPHA:570422
HP:0000118	Phenotypic abnormality	7852	CXCR4	ORPHA:51636
HP:0000118	Phenotypic abnormality	151516	ASPRV1	ORPHA:313
HP:0000118	Phenotypic abnormality	126410	CYP4F22	ORPHA:313
HP:0000118	Phenotypic abnormality	6820	SULT2B1	ORPHA:313
HP:0000118	Phenotypic abnormality	348938	NIPAL4	ORPHA:313
HP:0000118	Phenotypic abnormality	7051	TGM1	ORPHA:313
HP:0000118	Phenotypic abnormality	83706	FERMT3	OMIM:612840
HP:0000118	Phenotypic abnormality	54440	SASH3	OMIM:301082
HP:0000118	Phenotypic abnormality	5896	RAG1	ORPHA:39041
HP:0000118	Phenotypic abnormality	5896	RAG1	ORPHA:231154
HP:0000118	Phenotypic abnormality	5897	RAG2	ORPHA:39041
HP:0000118	Phenotypic abnormality	64421	DCLRE1C	ORPHA:39041
HP:0000118	Phenotypic abnormality	64421	DCLRE1C	OMIM:602450
HP:0000118	Phenotypic abnormality	100	ADA	ORPHA:39041
HP:0000118	Phenotypic abnormality	3575	IL7R	ORPHA:39041
HP:0000118	Phenotypic abnormality	25802	LMOD1	OMIM:619362
HP:0000118	Phenotypic abnormality	25802	LMOD1	ORPHA:2241
HP:0000118	Phenotypic abnormality	11005	SPINK5	OMIM:256500
HP:0000118	Phenotypic abnormality	2215	FCGR3B	ORPHA:464370
HP:0000118	Phenotypic abnormality	5317	PKP1	ORPHA:158668
HP:0000118	Phenotypic abnormality	204	AK2	OMIM:267500
HP:0000118	Phenotypic abnormality	204	AK2	ORPHA:33355
HP:0000118	Phenotypic abnormality	57591	MRTFA	OMIM:618847
HP:0000118	Phenotypic abnormality	6929	TCF3	ORPHA:33110
HP:0000118	Phenotypic abnormality	973	CD79A	ORPHA:33110
HP:0000118	Phenotypic abnormality	974	CD79B	ORPHA:33110
HP:0000118	Phenotypic abnormality	3543	IGLL1	ORPHA:33110
HP:0000118	Phenotypic abnormality	3507	IGHM	ORPHA:33110
HP:0000118	Phenotypic abnormality	29760	BLNK	ORPHA:33110
HP:0000118	Phenotypic abnormality	56262	LRRC8A	ORPHA:33110
HP:0000118	Phenotypic abnormality	79971	WLS	OMIM:619648
HP:0000118	Phenotypic abnormality	9496	TBX4	ORPHA:261279
HP:0000118	Phenotypic abnormality	54894	RNF43	ORPHA:157798
HP:0000118	Phenotypic abnormality	4143	MAT1A	OMIM:250850
HP:0000118	Phenotypic abnormality	8991	SELENBP1	OMIM:618148
HP:0000118	Phenotypic abnormality	6340	SCNN1G	ORPHA:60033
HP:0000118	Phenotypic abnormality	1080	CFTR	ORPHA:60033
HP:0000118	Phenotypic abnormality	6337	SCNN1A	ORPHA:60033
HP:0000118	Phenotypic abnormality	6338	SCNN1B	ORPHA:60033
HP:0000118	Phenotypic abnormality	815	CAMK2A	OMIM:617798
HP:0000118	Phenotypic abnormality	7306	TYRP1	ORPHA:79433
HP:0000118	Phenotypic abnormality	2767	GNA11	ORPHA:1556
HP:0000118	Phenotypic abnormality	151188	ARL6IP6	ORPHA:1556
HP:0000118	Phenotypic abnormality	6772	STAT1	ORPHA:391487
HP:0000118	Phenotypic abnormality	10043	TOM1	ORPHA:391487
HP:0000118	Phenotypic abnormality	9663	LPIN2	ORPHA:77297
HP:0000118	Phenotypic abnormality	5657	PRTN3	ORPHA:900
HP:0000118	Phenotypic abnormality	3113	HLA-DPA1	ORPHA:900
HP:0000118	Phenotypic abnormality	2303	FOXC2	ORPHA:33001
HP:0000118	Phenotypic abnormality	1776	DNASE1L3	ORPHA:36412
HP:0000118	Phenotypic abnormality	149233	IL23R	ORPHA:117
HP:0000118	Phenotypic abnormality	3586	IL10	ORPHA:117
HP:0000118	Phenotypic abnormality	1230	CCR1	ORPHA:117
HP:0000118	Phenotypic abnormality	355	FAS	ORPHA:117
HP:0000118	Phenotypic abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0000118	Phenotypic abnormality	7099	TLR4	ORPHA:117
HP:0000118	Phenotypic abnormality	3459	IFNGR1	ORPHA:117
HP:0000118	Phenotypic abnormality	720	C4A	ORPHA:117
HP:0000118	Phenotypic abnormality	337867	UBAC2	ORPHA:117
HP:0000118	Phenotypic abnormality	51752	ERAP1	ORPHA:117
HP:0000118	Phenotypic abnormality	8302	KLRC4	ORPHA:117
HP:0000118	Phenotypic abnormality	55630	SLC39A4	ORPHA:37
HP:0000118	Phenotypic abnormality	831	CAST	OMIM:616295
HP:0000118	Phenotypic abnormality	55612	FERMT1	ORPHA:2908
HP:0000118	Phenotypic abnormality	10892	MALT1	OMIM:615468
HP:0000118	Phenotypic abnormality	84818	IL17RC	ORPHA:1334
HP:0000118	Phenotypic abnormality	64581	CLEC7A	ORPHA:1334
HP:0000118	Phenotypic abnormality	23765	IL17RA	ORPHA:1334
HP:0000118	Phenotypic abnormality	10758	TRAF3IP2	ORPHA:1334
HP:0000118	Phenotypic abnormality	10758	TRAF3IP2	OMIM:615527
HP:0000118	Phenotypic abnormality	112744	IL17F	ORPHA:1334
HP:0000118	Phenotypic abnormality	64065	PERP	OMIM:619208
HP:0000118	Phenotypic abnormality	2000	ELF4	OMIM:301074
HP:0000118	Phenotypic abnormality	356	FASLG	ORPHA:3261
HP:0000118	Phenotypic abnormality	843	CASP10	ORPHA:3261
HP:0000118	Phenotypic abnormality	10125	RASGRP1	ORPHA:3261
HP:0000118	Phenotypic abnormality	5966	REL	OMIM:619652
HP:0000118	Phenotypic abnormality	10095	ARPC1B	OMIM:617718
HP:0000118	Phenotypic abnormality	5618	PRLR	ORPHA:397685
HP:0000118	Phenotypic abnormality	5618	PRLR	OMIM:615555
HP:0000118	Phenotypic abnormality	3662	IRF4	ORPHA:3452
HP:0000118	Phenotypic abnormality	9702	CEP57	OMIM:614114
HP:0000118	Phenotypic abnormality	3105	HLA-A	ORPHA:179
HP:0000118	Phenotypic abnormality	153642	ARSK	OMIM:619698
HP:0000118	Phenotypic abnormality	6794	STK11	ORPHA:2869
HP:0000118	Phenotypic abnormality	5156	PDGFRA	ORPHA:44890
HP:0000118	Phenotypic abnormality	9508	ADAMTS3	ORPHA:2136
HP:0000118	Phenotypic abnormality	147372	CCBE1	ORPHA:2136
HP:0000118	Phenotypic abnormality	22861	NLRP1	OMIM:618803
HP:0000118	Phenotypic abnormality	146206	CARMIL2	OMIM:618131
HP:0000118	Phenotypic abnormality	3937	LCP2	OMIM:619374
HP:0000118	Phenotypic abnormality	6635	SNRPE	OMIM:615059
HP:0000118	Phenotypic abnormality	60401	EDA2R	ORPHA:181
HP:0000118	Phenotypic abnormality	6144	RPL21	OMIM:615885
HP:0000118	Phenotypic abnormality	65992	DDRGK1	OMIM:602557
HP:0000118	Phenotypic abnormality	4318	MMP9	OMIM:613073
HP:0000118	Phenotypic abnormality	4595	MUTYH	ORPHA:247798
HP:0000118	Phenotypic abnormality	4041	LRP5	ORPHA:2790
HP:0000118	Phenotypic abnormality	4041	LRP5	OMIM:144750
HP:0000118	Phenotypic abnormality	79705	LRRK1	OMIM:615198
HP:0000118	Phenotypic abnormality	23592	LEMD3	ORPHA:166119
HP:0000118	Phenotypic abnormality	3033	HADH	OMIM:231530
HP:0000118	Phenotypic abnormality	3033	HADH	ORPHA:71212
HP:0000118	Phenotypic abnormality	79029	AFG2B	OMIM:619616
HP:0000118	Phenotypic abnormality	9289	ADGRG1	OMIM:615752
HP:0000118	Phenotypic abnormality	80055	PGAP1	OMIM:615802
HP:0000118	Phenotypic abnormality	4361	MRE11	ORPHA:251347
HP:0000118	Phenotypic abnormality	2271	FH	OMIM:606812
HP:0000118	Phenotypic abnormality	2639	GCDH	ORPHA:25
HP:0000118	Phenotypic abnormality	54805	CNNM2	OMIM:616418
HP:0000118	Phenotypic abnormality	1235	CCR6	ORPHA:220393
HP:0000118	Phenotypic abnormality	1235	CCR6	ORPHA:220402
HP:0000118	Phenotypic abnormality	1490	CCN2	ORPHA:220393
HP:0000118	Phenotypic abnormality	1490	CCN2	ORPHA:220402
HP:0000118	Phenotypic abnormality	3663	IRF5	ORPHA:220393
HP:0000118	Phenotypic abnormality	3663	IRF5	ORPHA:220402
HP:0000118	Phenotypic abnormality	79932	KIAA0319L	ORPHA:220402
HP:0000118	Phenotypic abnormality	9842	PLEKHM1	OMIM:611497
HP:0000118	Phenotypic abnormality	5422	POLA1	OMIM:301030
HP:0000118	Phenotypic abnormality	57102	C12orf4	OMIM:618221
HP:0000118	Phenotypic abnormality	4914	NTRK1	ORPHA:642
HP:0000118	Phenotypic abnormality	4771	NF2	ORPHA:637
HP:0000118	Phenotypic abnormality	1830	DSG3	OMIM:619226
HP:0000118	Phenotypic abnormality	2328	FMO3	ORPHA:468726
HP:0000118	Phenotypic abnormality	1500	CTNND1	OMIM:617681
HP:0000118	Phenotypic abnormality	26873	OPLAH	OMIM:260005
HP:0000118	Phenotypic abnormality	5336	PLCG2	OMIM:614468
HP:0000118	Phenotypic abnormality	81704	DOCK8	OMIM:243700
HP:0000118	Phenotypic abnormality	7040	TGFB1	OMIM:618213
HP:0000118	Phenotypic abnormality	35	ACADS	ORPHA:26792
HP:0000118	Phenotypic abnormality	2917	GRM7	OMIM:618922
HP:0000118	Phenotypic abnormality	57094	CPA6	OMIM:614418
HP:0000118	Phenotypic abnormality	29998	BICRA	OMIM:619325
HP:0000118	Phenotypic abnormality	6840	SVIL	OMIM:619040
HP:0000118	Phenotypic abnormality	1829	DSG2	OMIM:610193
HP:0000118	Phenotypic abnormality	4878	NPPA	ORPHA:1344
HP:0000118	Phenotypic abnormality	7276	TTR	ORPHA:85451
HP:0000118	Phenotypic abnormality	5256	PHKA2	ORPHA:264580
HP:0000118	Phenotypic abnormality	5261	PHKG2	ORPHA:264580
HP:0000118	Phenotypic abnormality	8573	CASK	OMIM:300908
HP:0000118	Phenotypic abnormality	2539	G6PD	OMIM:300908
HP:0000118	Phenotypic abnormality	55898	UNC45A	OMIM:619377
HP:0000118	Phenotypic abnormality	8029	CUBN	ORPHA:35858
HP:0000118	Phenotypic abnormality	81693	AMN	ORPHA:35858
HP:0000118	Phenotypic abnormality	6773	STAT2	OMIM:616636
HP:0000118	Phenotypic abnormality	8517	IKBKG	OMIM:300291
HP:0000118	Phenotypic abnormality	79087	ALG12	ORPHA:79324
HP:0000118	Phenotypic abnormality	3394	IRF8	OMIM:226990
HP:0000118	Phenotypic abnormality	567	B2M	OMIM:241600
HP:0000118	Phenotypic abnormality	959	CD40LG	OMIM:308230
HP:0000118	Phenotypic abnormality	3579	CXCR2	OMIM:619407
HP:0000118	Phenotypic abnormality	987	LRBA	OMIM:614700
HP:0000118	Phenotypic abnormality	51645	PPIL1	OMIM:619301
HP:0000118	Phenotypic abnormality	51362	CDC40	OMIM:619302
HP:0000118	Phenotypic abnormality	6688	SPI1	OMIM:619707
HP:0000118	Phenotypic abnormality	51135	IRAK4	OMIM:607676
HP:0000118	Phenotypic abnormality	84617	TUBB6	OMIM:617732
HP:0000118	Phenotypic abnormality	23780	APOL2	OMIM:181500
HP:0000118	Phenotypic abnormality	267012	DAOA	OMIM:181500
HP:0000118	Phenotypic abnormality	3356	HTR2A	OMIM:181500
HP:0000118	Phenotypic abnormality	6854	SYN2	OMIM:181500
HP:0000118	Phenotypic abnormality	27184	DISC2	OMIM:181500
HP:0000118	Phenotypic abnormality	65078	RTN4R	OMIM:181500
HP:0000118	Phenotypic abnormality	80832	APOL4	OMIM:181500
HP:0000118	Phenotypic abnormality	1116	CHI3L1	OMIM:181500
HP:0000118	Phenotypic abnormality	57379	AICDA	OMIM:605258
HP:0000118	Phenotypic abnormality	9138	ARHGEF1	OMIM:618459
HP:0000118	Phenotypic abnormality	1503	CTPS1	OMIM:615897
HP:0000118	Phenotypic abnormality	970	CD70	OMIM:618261
HP:0000118	Phenotypic abnormality	8737	RIPK1	OMIM:618108
HP:0000118	Phenotypic abnormality	84433	CARD11	OMIM:616452
HP:0000118	Phenotypic abnormality	841	CASP8	OMIM:607271
HP:0010330	Abnormality of the phalanges of the 3rd toe	51776	MAP3K20	ORPHA:488232
HP:0010330	Abnormality of the phalanges of the 3rd toe	4000	LMNA	ORPHA:2229
HP:0010330	Abnormality of the phalanges of the 3rd toe	285203	EOGT	OMIM:615297
HP:0010330	Abnormality of the phalanges of the 3rd toe	9241	NOG	OMIM:186500
HP:0010333	Flexion contracture of 3rd toe	54880	BCOR	OMIM:300166
HP:0010335	Abnormality of the epiphyses of the 4th toe	23102	TBC1D2B	ORPHA:397973
HP:0010332	Deviation of the 3rd toe	84342	COG8	OMIM:611182
HP:0010337	Aplasia/Hypoplasia of the 4th toe	285203	EOGT	OMIM:615297
HP:0010338	Deviation of the 4th toe	9241	NOG	OMIM:186500
HP:0010338	Deviation of the 4th toe	25782	RAB3GAP2	OMIM:614225
HP:0010338	Deviation of the 4th toe	118924	FRA10AC1	OMIM:620113
HP:0010338	Deviation of the 4th toe	84342	COG8	OMIM:611182
HP:0010338	Deviation of the 4th toe	341208	HEPHL1	OMIM:261990
HP:0010339	Flexion contracture of the 4th toe	54880	BCOR	ORPHA:2712
HP:0010339	Flexion contracture of the 4th toe	5528	PPP2R5D	ORPHA:457279
HP:0010336	Abnormality of the phalanges of the 4th toe	51776	MAP3K20	ORPHA:488232
HP:0010336	Abnormality of the phalanges of the 4th toe	285203	EOGT	OMIM:615297
HP:0010336	Abnormality of the phalanges of the 4th toe	9241	NOG	OMIM:186500
HP:0030766	Ear pain	8314	BAP1	ORPHA:2495
HP:0030766	Ear pain	4771	NF2	ORPHA:2495
HP:0030766	Ear pain	6598	SMARCB1	ORPHA:2495
HP:0030766	Ear pain	5155	PDGFB	ORPHA:2495
HP:0030766	Ear pain	84231	TRAF7	ORPHA:2495
HP:0030766	Ear pain	6608	SMO	ORPHA:2495
HP:0030766	Ear pain	207	AKT1	ORPHA:2495
HP:0030766	Ear pain	5290	PIK3CA	ORPHA:2495
HP:0030766	Ear pain	7015	TERT	ORPHA:2495
HP:0030766	Ear pain	51684	SUFU	ORPHA:2495
HP:0030766	Ear pain	6605	SMARCE1	ORPHA:2495
HP:0030766	Ear pain	3868	KRT16	ORPHA:2309
HP:0030766	Ear pain	3872	KRT17	ORPHA:2309
HP:0030766	Ear pain	3853	KRT6A	ORPHA:2309
HP:0030766	Ear pain	3854	KRT6B	ORPHA:2309
HP:0030765	Sleep terror	10165	SLC25A13	ORPHA:247585
HP:0030765	Sleep terror	6608	SMO	OMIM:241800
HP:0030765	Sleep terror	123263	MTFMT	OMIM:614947
HP:0030764	Ochronosis	3081	HGD	OMIM:203500
HP:0030769	Exencephaly	95681	CEP41	OMIM:614464
HP:0030771	Mallet finger	4883	NPR3	OMIM:619543
HP:0000121	Nephrocalcinosis	9949	AMMECR1	OMIM:300990
HP:0000121	Nephrocalcinosis	8504	PEX3	OMIM:617370
HP:0000121	Nephrocalcinosis	7809	BSND	ORPHA:89938
HP:0000121	Nephrocalcinosis	1188	CLCNKB	ORPHA:89938
HP:0000121	Nephrocalcinosis	1188	CLCNKB	OMIM:607364
HP:0000121	Nephrocalcinosis	1187	CLCNKA	ORPHA:89938
HP:0000121	Nephrocalcinosis	4952	OCRL	OMIM:300555
HP:0000121	Nephrocalcinosis	4952	OCRL	ORPHA:534
HP:0000121	Nephrocalcinosis	1184	CLCN5	OMIM:300554
HP:0000121	Nephrocalcinosis	1184	CLCN5	OMIM:308990
HP:0000121	Nephrocalcinosis	1184	CLCN5	OMIM:300009
HP:0000121	Nephrocalcinosis	1184	CLCN5	OMIM:310468
HP:0000121	Nephrocalcinosis	51095	TRNT1	OMIM:616084
HP:0000121	Nephrocalcinosis	6521	SLC4A1	OMIM:611590
HP:0000121	Nephrocalcinosis	6521	SLC4A1	OMIM:179800
HP:0000121	Nephrocalcinosis	51604	PIGT	OMIM:615398
HP:0000121	Nephrocalcinosis	51604	PIGT	ORPHA:369837
HP:0000121	Nephrocalcinosis	5167	ENPP1	ORPHA:51608
HP:0000121	Nephrocalcinosis	5167	ENPP1	ORPHA:758
HP:0000121	Nephrocalcinosis	368	ABCC6	ORPHA:51608
HP:0000121	Nephrocalcinosis	368	ABCC6	OMIM:614473
HP:0000121	Nephrocalcinosis	368	ABCC6	ORPHA:758
HP:0000121	Nephrocalcinosis	6809	STX3	ORPHA:2290
HP:0000121	Nephrocalcinosis	4645	MYO5B	ORPHA:2290
HP:0000121	Nephrocalcinosis	6569	SLC34A1	OMIM:616963
HP:0000121	Nephrocalcinosis	89891	DYNC2I2	OMIM:615633
HP:0000121	Nephrocalcinosis	189	AGXT	OMIM:259900
HP:0000121	Nephrocalcinosis	189	AGXT	ORPHA:93598
HP:0000121	Nephrocalcinosis	92335	STRADA	ORPHA:500533
HP:0000121	Nephrocalcinosis	92335	STRADA	OMIM:611087
HP:0000121	Nephrocalcinosis	3643	INSR	ORPHA:508
HP:0000121	Nephrocalcinosis	3643	INSR	ORPHA:769
HP:0000121	Nephrocalcinosis	6804	STX1A	ORPHA:904
HP:0000121	Nephrocalcinosis	7461	CLIP2	ORPHA:904
HP:0000121	Nephrocalcinosis	84277	DNAJC30	ORPHA:904
HP:0000121	Nephrocalcinosis	8468	FKBP6	ORPHA:904
HP:0000121	Nephrocalcinosis	5982	RFC2	ORPHA:904
HP:0000121	Nephrocalcinosis	2969	GTF2I	ORPHA:904
HP:0000121	Nephrocalcinosis	3984	LIMK1	ORPHA:904
HP:0000121	Nephrocalcinosis	9569	GTF2IRD1	ORPHA:904
HP:0000121	Nephrocalcinosis	155382	VPS37D	ORPHA:904
HP:0000121	Nephrocalcinosis	155368	METTL27	ORPHA:904
HP:0000121	Nephrocalcinosis	114049	BUD23	ORPHA:904
HP:0000121	Nephrocalcinosis	7458	EIF4H	ORPHA:904
HP:0000121	Nephrocalcinosis	84163	GTF2IRD2	ORPHA:904
HP:0000121	Nephrocalcinosis	9275	BCL7B	ORPHA:904
HP:0000121	Nephrocalcinosis	26608	TBL2	ORPHA:904
HP:0000121	Nephrocalcinosis	653361	NCF1	ORPHA:904
HP:0000121	Nephrocalcinosis	135886	TMEM270	ORPHA:904
HP:0000121	Nephrocalcinosis	51085	MLXIPL	ORPHA:904
HP:0000121	Nephrocalcinosis	51085	MLXIPL	OMIM:194050
HP:0000121	Nephrocalcinosis	9031	BAZ1B	ORPHA:904
HP:0000121	Nephrocalcinosis	2006	ELN	ORPHA:904
HP:0000121	Nephrocalcinosis	2006	ELN	OMIM:194050
HP:0000121	Nephrocalcinosis	2767	GNA11	ORPHA:428
HP:0000121	Nephrocalcinosis	846	CASR	ORPHA:428
HP:0000121	Nephrocalcinosis	846	CASR	OMIM:601198
HP:0000121	Nephrocalcinosis	9380	GRHPR	ORPHA:93599
HP:0000121	Nephrocalcinosis	9380	GRHPR	OMIM:260000
HP:0000121	Nephrocalcinosis	526	ATP6V1B2	ORPHA:79500
HP:0000121	Nephrocalcinosis	57465	TBC1D24	ORPHA:79500
HP:0000121	Nephrocalcinosis	81570	CLPB	ORPHA:445038
HP:0000121	Nephrocalcinosis	4210	MEFV	ORPHA:342
HP:0000121	Nephrocalcinosis	3251	HPRT1	OMIM:300322
HP:0000121	Nephrocalcinosis	79577	CDC73	ORPHA:143
HP:0000121	Nephrocalcinosis	79577	CDC73	ORPHA:99880
HP:0000121	Nephrocalcinosis	79577	CDC73	ORPHA:99879
HP:0000121	Nephrocalcinosis	10847	SRCAP	OMIM:136140
HP:0000121	Nephrocalcinosis	10847	SRCAP	ORPHA:2044
HP:0000121	Nephrocalcinosis	249	ALPL	OMIM:241500
HP:0000121	Nephrocalcinosis	51119	SBDS	OMIM:260400
HP:0000121	Nephrocalcinosis	134218	DNAJC21	OMIM:260400
HP:0000121	Nephrocalcinosis	6729	SRP54	OMIM:260400
HP:0000121	Nephrocalcinosis	6506	SLC1A2	OMIM:617105
HP:0000121	Nephrocalcinosis	2625	GATA3	OMIM:146255
HP:0000121	Nephrocalcinosis	476	ATP1A1	OMIM:618314
HP:0000121	Nephrocalcinosis	476	ATP1A1	ORPHA:564178
HP:0000121	Nephrocalcinosis	10686	CLDN16	OMIM:248250
HP:0000121	Nephrocalcinosis	6514	SLC2A2	ORPHA:2088
HP:0000121	Nephrocalcinosis	54757	FAM20A	ORPHA:1031
HP:0000121	Nephrocalcinosis	54757	FAM20A	OMIM:204690
HP:0000121	Nephrocalcinosis	2542	SLC37A4	ORPHA:79259
HP:0000121	Nephrocalcinosis	58528	RRAGD	OMIM:620152
HP:0000121	Nephrocalcinosis	4920	ROR2	OMIM:268310
HP:0000121	Nephrocalcinosis	5745	PTH1R	OMIM:156400
HP:0000121	Nephrocalcinosis	326	AIRE	OMIM:240300
HP:0000121	Nephrocalcinosis	2530	FUT8	OMIM:618005
HP:0000121	Nephrocalcinosis	1028	CDKN1C	OMIM:130650
HP:0000121	Nephrocalcinosis	10984	KCNQ1OT1	OMIM:130650
HP:0000121	Nephrocalcinosis	3481	IGF2	OMIM:130650
HP:0000121	Nephrocalcinosis	3784	KCNQ1	OMIM:130650
HP:0000121	Nephrocalcinosis	5741	PTH	OMIM:146200
HP:0000121	Nephrocalcinosis	2591	GALNT3	OMIM:211900
HP:0000121	Nephrocalcinosis	3172	HNF4A	OMIM:616026
HP:0000121	Nephrocalcinosis	50628	GEMIN4	OMIM:617913
HP:0000121	Nephrocalcinosis	1285	COL4A3	OMIM:104200
HP:0000121	Nephrocalcinosis	2184	FAH	OMIM:276700
HP:0000121	Nephrocalcinosis	4221	MEN1	ORPHA:99879
HP:0000121	Nephrocalcinosis	9247	GCM2	ORPHA:99879
HP:0000121	Nephrocalcinosis	5286	PIK3C2A	ORPHA:557003
HP:0000121	Nephrocalcinosis	3291	HSD11B2	ORPHA:320
HP:0000121	Nephrocalcinosis	50617	ATP6V0A4	OMIM:602722
HP:0000121	Nephrocalcinosis	6557	SLC12A1	OMIM:601678
HP:0000121	Nephrocalcinosis	26276	VPS33B	OMIM:208085
HP:0000121	Nephrocalcinosis	3758	KCNJ1	OMIM:241200
HP:0000121	Nephrocalcinosis	149461	CLDN19	OMIM:248190
HP:0000121	Nephrocalcinosis	529	ATP6V1E1	OMIM:617402
HP:0000121	Nephrocalcinosis	1591	CYP24A1	OMIM:143880
HP:0000121	Nephrocalcinosis	63894	VIPAS39	OMIM:613404
HP:0000121	Nephrocalcinosis	57592	ZNF687	OMIM:616833
HP:0000121	Nephrocalcinosis	112817	HOGA1	ORPHA:93600
HP:0000121	Nephrocalcinosis	56244	BTNL2	ORPHA:797
HP:0000121	Nephrocalcinosis	3123	HLA-DRB1	ORPHA:797
HP:0000121	Nephrocalcinosis	10916	MAGED2	OMIM:300971
HP:0000121	Nephrocalcinosis	1497	CTNS	OMIM:219800
HP:0000121	Nephrocalcinosis	142680	SLC34A3	ORPHA:157215
HP:0000121	Nephrocalcinosis	79989	IFT56	OMIM:619534
HP:0000121	Nephrocalcinosis	5442	POLRMT	OMIM:619743
HP:0000121	Nephrocalcinosis	113179	ADAT3	ORPHA:363528
HP:0000121	Nephrocalcinosis	8074	FGF23	OMIM:617993
HP:0000121	Nephrocalcinosis	1861	TOR1A	OMIM:618947
HP:0000122	Unilateral renal agenesis	2737	GLI3	ORPHA:672
HP:0000122	Unilateral renal agenesis	9653	HS2ST1	OMIM:619194
HP:0000122	Unilateral renal agenesis	5518	PPP2R1A	OMIM:616362
HP:0000122	Unilateral renal agenesis	5518	PPP2R1A	ORPHA:457284
HP:0000122	Unilateral renal agenesis	10262	SF3B4	OMIM:154400
HP:0000122	Unilateral renal agenesis	10262	SF3B4	ORPHA:245
HP:0000122	Unilateral renal agenesis	8294	H4C9	OMIM:619951
HP:0000122	Unilateral renal agenesis	392255	GDF6	OMIM:118100
HP:0000122	Unilateral renal agenesis	2138	EYA1	OMIM:113650
HP:0000122	Unilateral renal agenesis	6495	SIX1	OMIM:113650
HP:0000122	Unilateral renal agenesis	348180	CTU2	OMIM:618142
HP:0000122	Unilateral renal agenesis	1859	DYRK1A	ORPHA:268261
HP:0000122	Unilateral renal agenesis	1859	DYRK1A	ORPHA:464311
HP:0000122	Unilateral renal agenesis	128674	PROKR2	OMIM:244200
HP:0000122	Unilateral renal agenesis	55503	TRPV6	OMIM:618188
HP:0000122	Unilateral renal agenesis	1161	ERCC8	ORPHA:90324
HP:0000122	Unilateral renal agenesis	2074	ERCC6	ORPHA:90324
HP:0000122	Unilateral renal agenesis	54361	WNT4	ORPHA:3109
HP:0000122	Unilateral renal agenesis	54361	WNT4	OMIM:158330
HP:0000122	Unilateral renal agenesis	998	CDC42	ORPHA:487796
HP:0000122	Unilateral renal agenesis	998	CDC42	OMIM:616737
HP:0000122	Unilateral renal agenesis	6154	RPL26	OMIM:614900
HP:0000122	Unilateral renal agenesis	5832	ALDH18A1	OMIM:616603
HP:0000122	Unilateral renal agenesis	5832	ALDH18A1	ORPHA:90348
HP:0000122	Unilateral renal agenesis	91801	ALKBH8	OMIM:618504
HP:0000122	Unilateral renal agenesis	54499	TMCO1	OMIM:213980
HP:0000122	Unilateral renal agenesis	25914	RTTN	ORPHA:468631
HP:0000122	Unilateral renal agenesis	8496	PPFIBP1	OMIM:620024
HP:0000122	Unilateral renal agenesis	5293	PIK3CD	ORPHA:221139
HP:0000122	Unilateral renal agenesis	90417	KNSTRN	ORPHA:221139
HP:0000122	Unilateral renal agenesis	10907	TXNL4A	OMIM:608572
HP:0000122	Unilateral renal agenesis	5447	POR	ORPHA:95699
HP:0000122	Unilateral renal agenesis	91147	TMEM67	OMIM:216360
HP:0000122	Unilateral renal agenesis	284252	KCTD1	OMIM:181270
HP:0000122	Unilateral renal agenesis	79228	THOC6	ORPHA:363444
HP:0000122	Unilateral renal agenesis	79228	THOC6	OMIM:613680
HP:0000122	Unilateral renal agenesis	51360	MBTPS2	OMIM:308205
HP:0000122	Unilateral renal agenesis	6651	SON	OMIM:617140
HP:0000122	Unilateral renal agenesis	6651	SON	ORPHA:500150
HP:0000122	Unilateral renal agenesis	8942	KYNU	OMIM:617661
HP:0000122	Unilateral renal agenesis	341640	FREM2	OMIM:617666
HP:0000122	Unilateral renal agenesis	3417	IDH1	ORPHA:99646
HP:0000122	Unilateral renal agenesis	55252	ASXL2	OMIM:617190
HP:0000122	Unilateral renal agenesis	55120	FANCL	OMIM:614083
HP:0000122	Unilateral renal agenesis	7518	XRCC4	OMIM:616541
HP:0000122	Unilateral renal agenesis	6928	HNF1B	OMIM:137920
HP:0000122	Unilateral renal agenesis	50814	NSDHL	OMIM:308050
HP:0000122	Unilateral renal agenesis	2625	GATA3	ORPHA:2237
HP:0000122	Unilateral renal agenesis	2006	ELN	ORPHA:90348
HP:0000122	Unilateral renal agenesis	10516	FBLN5	ORPHA:90348
HP:0000122	Unilateral renal agenesis	412	STS	ORPHA:281090
HP:0000122	Unilateral renal agenesis	55191	NADSYN1	OMIM:618845
HP:0000122	Unilateral renal agenesis	55788	LMBRD1	ORPHA:79284
HP:0000122	Unilateral renal agenesis	9276	COPB2	ORPHA:2512
HP:0000122	Unilateral renal agenesis	11113	CIT	ORPHA:2512
HP:0000122	Unilateral renal agenesis	9928	KIF14	ORPHA:2512
HP:0000122	Unilateral renal agenesis	22995	CEP152	ORPHA:2512
HP:0000122	Unilateral renal agenesis	284403	WDR62	ORPHA:2512
HP:0000122	Unilateral renal agenesis	55262	TRAPPC14	ORPHA:2512
HP:0000122	Unilateral renal agenesis	163786	SASS6	ORPHA:2512
HP:0000122	Unilateral renal agenesis	29920	PYCR2	ORPHA:2512
HP:0000122	Unilateral renal agenesis	84879	MFSD2A	ORPHA:2512
HP:0000122	Unilateral renal agenesis	4176	MCM7	ORPHA:2512
HP:0000122	Unilateral renal agenesis	80254	CEP63	ORPHA:2512
HP:0000122	Unilateral renal agenesis	29081	METTL5	ORPHA:2512
HP:0000122	Unilateral renal agenesis	23310	NCAPD3	ORPHA:2512
HP:0000122	Unilateral renal agenesis	55755	CDK5RAP2	ORPHA:2512
HP:0000122	Unilateral renal agenesis	79648	MCPH1	ORPHA:2512
HP:0000122	Unilateral renal agenesis	6491	STIL	ORPHA:2512
HP:0000122	Unilateral renal agenesis	23141	ANKLE2	ORPHA:2512
HP:0000122	Unilateral renal agenesis	259266	ASPM	ORPHA:2512
HP:0000122	Unilateral renal agenesis	7109	TRAPPC10	ORPHA:2512
HP:0000122	Unilateral renal agenesis	1911	PHC1	ORPHA:2512
HP:0000122	Unilateral renal agenesis	6884	TAF13	ORPHA:2512
HP:0000122	Unilateral renal agenesis	9662	CEP135	ORPHA:2512
HP:0000122	Unilateral renal agenesis	55835	CENPJ	ORPHA:2512
HP:0000122	Unilateral renal agenesis	57082	KNL1	ORPHA:2512
HP:0000122	Unilateral renal agenesis	1021	CDK6	ORPHA:2512
HP:0000122	Unilateral renal agenesis	25778	DSTYK	OMIM:610805
HP:0000122	Unilateral renal agenesis	22827	PUF60	ORPHA:508488
HP:0000122	Unilateral renal agenesis	1717	DHCR7	OMIM:270400
HP:0000122	Unilateral renal agenesis	7148	TNXB	OMIM:606408
HP:0000122	Unilateral renal agenesis	3730	ANOS1	OMIM:308700
HP:0000122	Unilateral renal agenesis	6899	TBX1	OMIM:188400
HP:0000122	Unilateral renal agenesis	5781	PTPN11	OMIM:151100
HP:0000122	Unilateral renal agenesis	5087	PBX1	OMIM:617641
HP:0000122	Unilateral renal agenesis	1822	ATN1	OMIM:618494
HP:0000122	Unilateral renal agenesis	57511	COG6	OMIM:614576
HP:0000122	Unilateral renal agenesis	55012	PPP2R3C	OMIM:618419
HP:0000122	Unilateral renal agenesis	51729	WBP11	OMIM:619227
HP:0000122	Unilateral renal agenesis	2783	GNB2	OMIM:619503
HP:0000122	Unilateral renal agenesis	26057	ANKRD17	OMIM:619504
HP:0000122	Unilateral renal agenesis	5573	PRKAR1A	OMIM:101800
HP:0000122	Unilateral renal agenesis	158326	FREM1	OMIM:608980
HP:0000122	Unilateral renal agenesis	6862	TBXT	OMIM:615709
HP:0000124	Renal tubular dysfunction	4351	MPI	OMIM:602579
HP:0000124	Renal tubular dysfunction	4558	MT-TF	ORPHA:550
HP:0000124	Renal tubular dysfunction	4572	MT-TQ	ORPHA:550
HP:0000124	Renal tubular dysfunction	4512	MT-CO1	ORPHA:550
HP:0000124	Renal tubular dysfunction	4513	MT-CO2	ORPHA:550
HP:0000124	Renal tubular dysfunction	4514	MT-CO3	ORPHA:550
HP:0000124	Renal tubular dysfunction	4578	MT-TW	ORPHA:550
HP:0000124	Renal tubular dysfunction	4540	MT-ND5	ORPHA:550
HP:0000124	Renal tubular dysfunction	4541	MT-ND6	ORPHA:550
HP:0000124	Renal tubular dysfunction	4535	MT-ND1	ORPHA:550
HP:0000124	Renal tubular dysfunction	4535	MT-ND1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4538	MT-ND4	ORPHA:550
HP:0000124	Renal tubular dysfunction	4567	MT-TL1	ORPHA:550
HP:0000124	Renal tubular dysfunction	4574	MT-TS1	ORPHA:550
HP:0000124	Renal tubular dysfunction	4575	MT-TS2	ORPHA:550
HP:0000124	Renal tubular dysfunction	4564	MT-TH	ORPHA:550
HP:0000124	Renal tubular dysfunction	3043	HBB	ORPHA:231222
HP:0000124	Renal tubular dysfunction	54539	NDUFB11	ORPHA:2609
HP:0000124	Renal tubular dysfunction	51103	NDUFAF1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	91942	NDUFAF2	ORPHA:2609
HP:0000124	Renal tubular dysfunction	51300	TIMMDC1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4716	NDUFB10	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4723	NDUFV1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	55572	FOXRED1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	284184	NDUFAF8	ORPHA:2609
HP:0000124	Renal tubular dysfunction	55863	TMEM126B	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4537	MT-ND3	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4729	NDUFV2	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4694	NDUFA1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4724	NDUFS4	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4726	NDUFS6	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4728	NDUFS8	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4722	NDUFS3	ORPHA:2609
HP:0000124	Renal tubular dysfunction	79133	NDUFAF5	ORPHA:2609
HP:0000124	Renal tubular dysfunction	126328	NDUFA11	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4709	NDUFB3	ORPHA:2609
HP:0000124	Renal tubular dysfunction	80224	NUBPL	ORPHA:2609
HP:0000124	Renal tubular dysfunction	29078	NDUFAF4	ORPHA:2609
HP:0000124	Renal tubular dysfunction	374291	NDUFS7	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4700	NDUFA6	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4536	MT-ND2	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4719	NDUFS1	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4715	NDUFB9	ORPHA:2609
HP:0000124	Renal tubular dysfunction	4952	OCRL	OMIM:300555
HP:0000124	Renal tubular dysfunction	229	ALDOB	OMIM:229600
HP:0000124	Renal tubular dysfunction	1184	CLCN5	OMIM:300554
HP:0000124	Renal tubular dysfunction	1184	CLCN5	OMIM:300009
HP:0000124	Renal tubular dysfunction	1184	CLCN5	OMIM:310468
HP:0000124	Renal tubular dysfunction	1184	CLCN5	OMIM:308990
HP:0000124	Renal tubular dysfunction	5442	POLRMT	OMIM:619743
HP:0000124	Renal tubular dysfunction	50484	RRM2B	OMIM:612075
HP:0000124	Renal tubular dysfunction	57511	COG6	OMIM:614576
HP:0000124	Renal tubular dysfunction	6569	SLC34A1	OMIM:613388
HP:0000124	Renal tubular dysfunction	1497	CTNS	ORPHA:411634
HP:0000124	Renal tubular dysfunction	2108	ETFA	OMIM:231680
HP:0000124	Renal tubular dysfunction	2109	ETFB	OMIM:231680
HP:0000124	Renal tubular dysfunction	2110	ETFDH	OMIM:231680
HP:0000124	Renal tubular dysfunction	5373	PMM2	OMIM:212065
HP:0000124	Renal tubular dysfunction	2778	GNAS	ORPHA:562
HP:0000124	Renal tubular dysfunction	5251	PHEX	OMIM:307800
HP:0000124	Renal tubular dysfunction	4594	MMUT	ORPHA:289916
HP:0000124	Renal tubular dysfunction	6524	SLC5A2	ORPHA:69076
HP:0000124	Renal tubular dysfunction	4570	MT-TN	OMIM:220110
HP:0000124	Renal tubular dysfunction	142680	SLC34A3	OMIM:241530
HP:0000124	Renal tubular dysfunction	57570	TRMT5	OMIM:616539
HP:0000124	Renal tubular dysfunction	5824	PEX19	OMIM:614886
HP:0000124	Renal tubular dysfunction	84334	COA8	ORPHA:436271
HP:0000124	Renal tubular dysfunction	540	ATP7B	OMIM:277900
HP:0000124	Renal tubular dysfunction	3767	KCNJ11	ORPHA:99885
HP:0000124	Renal tubular dysfunction	6774	STAT3	ORPHA:99885
HP:0000124	Renal tubular dysfunction	2645	GCK	ORPHA:99885
HP:0000124	Renal tubular dysfunction	3651	PDX1	ORPHA:99885
HP:0000124	Renal tubular dysfunction	6833	ABCC8	ORPHA:99885
HP:0000124	Renal tubular dysfunction	3630	INS	ORPHA:99885
HP:0000124	Renal tubular dysfunction	3762	KCNJ5	ORPHA:37553
HP:0000124	Renal tubular dysfunction	3759	KCNJ2	ORPHA:37553
HP:0000124	Renal tubular dysfunction	1374	CPT1A	ORPHA:156
HP:0000124	Renal tubular dysfunction	1374	CPT1A	OMIM:255120
HP:0000124	Renal tubular dysfunction	525	ATP6V1B1	OMIM:267300
HP:0000124	Renal tubular dysfunction	57551	TAOK1	OMIM:619575
HP:0000124	Renal tubular dysfunction	26235	FBXL4	OMIM:615471
HP:0000124	Renal tubular dysfunction	57107	PDSS2	ORPHA:255249
HP:0000124	Renal tubular dysfunction	27235	COQ2	ORPHA:255249
HP:0000124	Renal tubular dysfunction	133686	NADK2	ORPHA:431361
HP:0000124	Renal tubular dysfunction	55005	RMND1	OMIM:614922
HP:0000124	Renal tubular dysfunction	5257	PHKB	ORPHA:79240
HP:0000124	Renal tubular dysfunction	4853	NOTCH2	OMIM:610205
HP:0000124	Renal tubular dysfunction	25915	NDUFAF3	ORPHA:70474
HP:0000124	Renal tubular dysfunction	4714	NDUFB8	ORPHA:70474
HP:0000124	Renal tubular dysfunction	4720	NDUFS2	ORPHA:70474
HP:0000124	Renal tubular dysfunction	9997	SCO2	ORPHA:70474
HP:0000124	Renal tubular dysfunction	6834	SURF1	ORPHA:70474
HP:0000124	Renal tubular dysfunction	26276	VPS33B	OMIM:208085
HP:0000124	Renal tubular dysfunction	5256	PHKA2	ORPHA:264580
HP:0000124	Renal tubular dysfunction	5261	PHKG2	ORPHA:264580
HP:0000124	Renal tubular dysfunction	790	CAD	OMIM:616457
HP:0000124	Renal tubular dysfunction	182	JAG1	OMIM:118450
HP:0000124	Renal tubular dysfunction	63894	VIPAS39	OMIM:613404
HP:0000124	Renal tubular dysfunction	6514	SLC2A2	ORPHA:2088
HP:0000124	Renal tubular dysfunction	57724	EPG5	ORPHA:1493
HP:0000124	Renal tubular dysfunction	8942	KYNU	ORPHA:79155
HP:0000124	Renal tubular dysfunction	6559	SLC12A3	ORPHA:358
HP:0000124	Renal tubular dysfunction	3172	HNF4A	ORPHA:263455
HP:0000124	Renal tubular dysfunction	2184	FAH	OMIM:276700
HP:0000124	Renal tubular dysfunction	617	BCS1L	ORPHA:53693
HP:0000124	Renal tubular dysfunction	5277	PIGA	ORPHA:447
HP:0000124	Renal tubular dysfunction	84300	UQCC2	OMIM:615824
HP:0000124	Renal tubular dysfunction	5091	PC	OMIM:266150
HP:0000124	Renal tubular dysfunction	1962	EHHADH	ORPHA:3337
HP:0000124	Renal tubular dysfunction	137682	NDUFAF6	ORPHA:3337
HP:0000124	Renal tubular dysfunction	80184	CEP290	OMIM:610188
HP:0000124	Renal tubular dysfunction	7809	BSND	ORPHA:89938
HP:0000124	Renal tubular dysfunction	7809	BSND	OMIM:602522
HP:0000124	Renal tubular dysfunction	1187	CLCNKA	ORPHA:89938
HP:0000124	Renal tubular dysfunction	54757	FAM20A	ORPHA:1031
HP:0000124	Renal tubular dysfunction	54757	FAM20A	OMIM:204690
HP:0000124	Renal tubular dysfunction	4867	NPHP1	OMIM:266900
HP:0000124	Renal tubular dysfunction	2591	GALNT3	OMIM:211900
HP:0000124	Renal tubular dysfunction	4036	LRP2	OMIM:222448
HP:0000124	Renal tubular dysfunction	1188	CLCNKB	OMIM:607364
HP:0000124	Renal tubular dysfunction	2625	GATA3	OMIM:146255
HP:0000124	Renal tubular dysfunction	50617	ATP6V0A4	OMIM:602722
HP:0000124	Renal tubular dysfunction	10686	CLDN16	OMIM:248250
HP:0000124	Renal tubular dysfunction	6928	HNF1B	ORPHA:1309
HP:0000124	Renal tubular dysfunction	6521	SLC4A1	OMIM:611590
HP:0000124	Renal tubular dysfunction	6521	SLC4A1	OMIM:179800
HP:0000124	Renal tubular dysfunction	760	CA2	OMIM:259730
HP:0000124	Renal tubular dysfunction	760	CA2	ORPHA:2785
HP:0000124	Renal tubular dysfunction	54805	CNNM2	OMIM:613882
HP:0000124	Renal tubular dysfunction	2628	GATM	OMIM:134600
HP:0000124	Renal tubular dysfunction	8671	SLC4A4	OMIM:604278
HP:0000125	Pelvic kidney	2188	FANCF	OMIM:603467
HP:0000125	Pelvic kidney	22827	PUF60	ORPHA:508498
HP:0000125	Pelvic kidney	22827	PUF60	ORPHA:508488
HP:0000125	Pelvic kidney	2177	FANCD2	OMIM:227646
HP:0000125	Pelvic kidney	92002	CCNQ	OMIM:300707
HP:0000125	Pelvic kidney	84464	SLX4	OMIM:613951
HP:0000125	Pelvic kidney	6804	STX1A	ORPHA:904
HP:0000125	Pelvic kidney	7461	CLIP2	ORPHA:904
HP:0000125	Pelvic kidney	84277	DNAJC30	ORPHA:904
HP:0000125	Pelvic kidney	8468	FKBP6	ORPHA:904
HP:0000125	Pelvic kidney	5982	RFC2	ORPHA:904
HP:0000125	Pelvic kidney	2969	GTF2I	ORPHA:904
HP:0000125	Pelvic kidney	3984	LIMK1	ORPHA:904
HP:0000125	Pelvic kidney	9569	GTF2IRD1	ORPHA:904
HP:0000125	Pelvic kidney	155382	VPS37D	ORPHA:904
HP:0000125	Pelvic kidney	155368	METTL27	ORPHA:904
HP:0000125	Pelvic kidney	114049	BUD23	ORPHA:904
HP:0000125	Pelvic kidney	7458	EIF4H	ORPHA:904
HP:0000125	Pelvic kidney	84163	GTF2IRD2	ORPHA:904
HP:0000125	Pelvic kidney	9275	BCL7B	ORPHA:904
HP:0000125	Pelvic kidney	26608	TBL2	ORPHA:904
HP:0000125	Pelvic kidney	653361	NCF1	ORPHA:904
HP:0000125	Pelvic kidney	135886	TMEM270	ORPHA:904
HP:0000125	Pelvic kidney	51085	MLXIPL	ORPHA:904
HP:0000125	Pelvic kidney	51085	MLXIPL	OMIM:194050
HP:0000125	Pelvic kidney	9031	BAZ1B	ORPHA:904
HP:0000125	Pelvic kidney	2006	ELN	ORPHA:904
HP:0000125	Pelvic kidney	2006	ELN	OMIM:194050
HP:0000125	Pelvic kidney	51322	WAC	ORPHA:466950
HP:0000125	Pelvic kidney	25914	RTTN	ORPHA:468631
HP:0000125	Pelvic kidney	64220	STRA6	OMIM:601186
HP:0000125	Pelvic kidney	1859	DYRK1A	ORPHA:464311
HP:0000125	Pelvic kidney	9839	ZEB2	ORPHA:261537
HP:0000125	Pelvic kidney	9839	ZEB2	ORPHA:261552
HP:0000125	Pelvic kidney	7750	ZMYM2	OMIM:619522
HP:0000125	Pelvic kidney	1656	DDX6	OMIM:618653
HP:0000125	Pelvic kidney	5888	RAD51	OMIM:617244
HP:0000125	Pelvic kidney	2260	FGFR1	OMIM:613001
HP:0000125	Pelvic kidney	2783	GNB2	OMIM:619503
HP:0000126	Hydronephrosis	6095	RORA	OMIM:618060
HP:0000126	Hydronephrosis	7528	YY1	ORPHA:506358
HP:0000126	Hydronephrosis	7528	YY1	OMIM:617557
HP:0000126	Hydronephrosis	2294	FOXF1	OMIM:265380
HP:0000126	Hydronephrosis	2294	FOXF1	ORPHA:210122
HP:0000126	Hydronephrosis	3376	IARS1	OMIM:617093
HP:0000126	Hydronephrosis	3376	IARS1	ORPHA:541423
HP:0000126	Hydronephrosis	9860	LRIG2	OMIM:615112
HP:0000126	Hydronephrosis	9860	LRIG2	ORPHA:2704
HP:0000126	Hydronephrosis	5339	PLEC	ORPHA:158684
HP:0000126	Hydronephrosis	3691	ITGB4	ORPHA:158684
HP:0000126	Hydronephrosis	3691	ITGB4	ORPHA:79403
HP:0000126	Hydronephrosis	8425	LTBP4	OMIM:613177
HP:0000126	Hydronephrosis	1161	ERCC8	ORPHA:90324
HP:0000126	Hydronephrosis	2074	ERCC6	ORPHA:90324
HP:0000126	Hydronephrosis	23556	PIGN	ORPHA:2059
HP:0000126	Hydronephrosis	23556	PIGN	OMIM:614080
HP:0000126	Hydronephrosis	23556	PIGN	ORPHA:280633
HP:0000126	Hydronephrosis	673	BRAF	OMIM:115150
HP:0000126	Hydronephrosis	673	BRAF	ORPHA:1340
HP:0000126	Hydronephrosis	8195	MKKS	OMIM:236700
HP:0000126	Hydronephrosis	8195	MKKS	ORPHA:2473
HP:0000126	Hydronephrosis	81857	MED25	OMIM:616449
HP:0000126	Hydronephrosis	81857	MED25	ORPHA:464738
HP:0000126	Hydronephrosis	145173	B3GLCT	ORPHA:709
HP:0000126	Hydronephrosis	145173	B3GLCT	OMIM:261540
HP:0000126	Hydronephrosis	4774	NFIA	OMIM:613735
HP:0000126	Hydronephrosis	538	ATP7A	OMIM:304150
HP:0000126	Hydronephrosis	64220	STRA6	OMIM:601186
HP:0000126	Hydronephrosis	126792	B3GALT6	OMIM:609465
HP:0000126	Hydronephrosis	1131	CHRM3	OMIM:100100
HP:0000126	Hydronephrosis	64324	NSD1	ORPHA:821
HP:0000126	Hydronephrosis	29072	SETD2	ORPHA:821
HP:0000126	Hydronephrosis	10297	APC2	ORPHA:821
HP:0000126	Hydronephrosis	10093	ARPC4	OMIM:620141
HP:0000126	Hydronephrosis	3655	ITGA6	ORPHA:79403
HP:0000126	Hydronephrosis	3190	HNRNPK	ORPHA:453504
HP:0000126	Hydronephrosis	3190	HNRNPK	OMIM:616580
HP:0000126	Hydronephrosis	3190	HNRNPK	ORPHA:352665
HP:0000126	Hydronephrosis	3909	LAMA3	ORPHA:79404
HP:0000126	Hydronephrosis	3918	LAMC2	ORPHA:79404
HP:0000126	Hydronephrosis	3914	LAMB3	ORPHA:79404
HP:0000126	Hydronephrosis	6662	SOX9	ORPHA:140
HP:0000126	Hydronephrosis	6662	SOX9	OMIM:114290
HP:0000126	Hydronephrosis	197131	UBR1	OMIM:243800
HP:0000126	Hydronephrosis	197131	UBR1	ORPHA:2315
HP:0000126	Hydronephrosis	55112	DYNC2I1	ORPHA:93271
HP:0000126	Hydronephrosis	57560	IFT80	ORPHA:93271
HP:0000126	Hydronephrosis	57539	WDR35	ORPHA:93271
HP:0000126	Hydronephrosis	79659	DYNC2H1	ORPHA:93271
HP:0000126	Hydronephrosis	89891	DYNC2I2	ORPHA:93271
HP:0000126	Hydronephrosis	2782	GNB1	ORPHA:488613
HP:0000126	Hydronephrosis	2782	GNB1	OMIM:616973
HP:0000126	Hydronephrosis	10847	SRCAP	ORPHA:2044
HP:0000126	Hydronephrosis	10847	SRCAP	OMIM:136140
HP:0000126	Hydronephrosis	1717	DHCR7	ORPHA:818
HP:0000126	Hydronephrosis	1717	DHCR7	OMIM:270400
HP:0000126	Hydronephrosis	9915	ARNT2	OMIM:615926
HP:0000126	Hydronephrosis	55636	CHD7	ORPHA:138
HP:0000126	Hydronephrosis	55636	CHD7	OMIM:214800
HP:0000126	Hydronephrosis	9723	SEMA3E	ORPHA:138
HP:0000126	Hydronephrosis	9382	COG1	OMIM:611209
HP:0000126	Hydronephrosis	5189	PEX1	OMIM:214100
HP:0000126	Hydronephrosis	5189	PEX1	ORPHA:912
HP:0000126	Hydronephrosis	2263	FGFR2	ORPHA:93260
HP:0000126	Hydronephrosis	2263	FGFR2	ORPHA:2363
HP:0000126	Hydronephrosis	2263	FGFR2	OMIM:101200
HP:0000126	Hydronephrosis	84992	PIGY	ORPHA:247262
HP:0000126	Hydronephrosis	84720	PIGO	ORPHA:247262
HP:0000126	Hydronephrosis	93210	PGAP3	ORPHA:247262
HP:0000126	Hydronephrosis	284098	PIGW	ORPHA:247262
HP:0000126	Hydronephrosis	27315	PGAP2	ORPHA:247262
HP:0000126	Hydronephrosis	55650	PIGV	ORPHA:247262
HP:0000126	Hydronephrosis	9487	PIGL	ORPHA:247262
HP:0000126	Hydronephrosis	9487	PIGL	ORPHA:3474
HP:0000126	Hydronephrosis	9487	PIGL	OMIM:280000
HP:0000126	Hydronephrosis	4001	LMNB1	OMIM:619179
HP:0000126	Hydronephrosis	51360	MBTPS2	ORPHA:2273
HP:0000126	Hydronephrosis	57492	ARID1B	OMIM:135900
HP:0000126	Hydronephrosis	284058	KANSL1	ORPHA:363958
HP:0000126	Hydronephrosis	284058	KANSL1	ORPHA:363965
HP:0000126	Hydronephrosis	284058	KANSL1	OMIM:610443
HP:0000126	Hydronephrosis	1136	CHRNA3	OMIM:191800
HP:0000126	Hydronephrosis	113189	CHST14	ORPHA:2953
HP:0000126	Hydronephrosis	113189	CHST14	OMIM:601776
HP:0000126	Hydronephrosis	29940	DSE	ORPHA:2953
HP:0000126	Hydronephrosis	50814	NSDHL	OMIM:308050
HP:0000126	Hydronephrosis	23522	KAT6B	OMIM:606170
HP:0000126	Hydronephrosis	23522	KAT6B	ORPHA:85201
HP:0000126	Hydronephrosis	815	CAMK2A	OMIM:617798
HP:0000126	Hydronephrosis	92579	G6PC3	OMIM:612541
HP:0000126	Hydronephrosis	7994	KAT6A	ORPHA:457193
HP:0000126	Hydronephrosis	7994	KAT6A	OMIM:616268
HP:0000126	Hydronephrosis	64359	NXN	ORPHA:1507
HP:0000126	Hydronephrosis	4920	ROR2	ORPHA:1507
HP:0000126	Hydronephrosis	4920	ROR2	OMIM:268310
HP:0000126	Hydronephrosis	546	ATRX	ORPHA:847
HP:0000126	Hydronephrosis	546	ATRX	OMIM:301040
HP:0000126	Hydronephrosis	23116	TOGARAM1	OMIM:619185
HP:0000126	Hydronephrosis	6899	TBX1	OMIM:188400
HP:0000126	Hydronephrosis	6899	TBX1	ORPHA:1727
HP:0000126	Hydronephrosis	7466	WFS1	OMIM:222300
HP:0000126	Hydronephrosis	9839	ZEB2	ORPHA:261552
HP:0000126	Hydronephrosis	9839	ZEB2	ORPHA:261537
HP:0000126	Hydronephrosis	4763	NF1	ORPHA:363700
HP:0000126	Hydronephrosis	1656	DDX6	OMIM:618653
HP:0000126	Hydronephrosis	10682	EBP	ORPHA:35173
HP:0000126	Hydronephrosis	10682	EBP	OMIM:302960
HP:0000126	Hydronephrosis	60495	HPSE2	ORPHA:2704
HP:0000126	Hydronephrosis	60495	HPSE2	OMIM:236730
HP:0000126	Hydronephrosis	7020	TFAP2A	ORPHA:1297
HP:0000126	Hydronephrosis	9096	TBX18	OMIM:143400
HP:0000126	Hydronephrosis	26040	SETBP1	OMIM:269150
HP:0000126	Hydronephrosis	26040	SETBP1	ORPHA:798
HP:0000126	Hydronephrosis	2316	FLNA	ORPHA:90652
HP:0000126	Hydronephrosis	2316	FLNA	ORPHA:2484
HP:0000126	Hydronephrosis	2316	FLNA	OMIM:304120
HP:0000126	Hydronephrosis	2316	FLNA	ORPHA:1826
HP:0000126	Hydronephrosis	2316	FLNA	OMIM:309350
HP:0000126	Hydronephrosis	2316	FLNA	OMIM:305620
HP:0000126	Hydronephrosis	2316	FLNA	OMIM:300048
HP:0000126	Hydronephrosis	8241	RBM10	OMIM:311900
HP:0000126	Hydronephrosis	8241	RBM10	ORPHA:2886
HP:0000126	Hydronephrosis	5337	PLD1	OMIM:212093
HP:0000126	Hydronephrosis	3981	LIG4	ORPHA:235
HP:0000126	Hydronephrosis	54888	NSUN2	ORPHA:235
HP:0000126	Hydronephrosis	54914	FOCAD	OMIM:619991
HP:0000126	Hydronephrosis	7498	XDH	OMIM:278300
HP:0000126	Hydronephrosis	8239	USP9X	ORPHA:480880
HP:0000126	Hydronephrosis	8239	USP9X	OMIM:300968
HP:0000126	Hydronephrosis	5590	PRKCZ	ORPHA:1606
HP:0000126	Hydronephrosis	2563	GABRD	ORPHA:1606
HP:0000126	Hydronephrosis	23013	SPEN	ORPHA:1606
HP:0000126	Hydronephrosis	8510	MMP23B	ORPHA:1606
HP:0000126	Hydronephrosis	7798	LUZP1	ORPHA:1606
HP:0000126	Hydronephrosis	6497	SKI	ORPHA:1606
HP:0000126	Hydronephrosis	10630	PDPN	ORPHA:1606
HP:0000126	Hydronephrosis	3339	HSPG2	ORPHA:1606
HP:0000126	Hydronephrosis	10277	UBE4B	ORPHA:1606
HP:0000126	Hydronephrosis	8514	KCNAB2	ORPHA:1606
HP:0000126	Hydronephrosis	473	RERE	ORPHA:1606
HP:0000126	Hydronephrosis	63976	PRDM16	ORPHA:1606
HP:0000126	Hydronephrosis	54897	CASZ1	ORPHA:1606
HP:0000126	Hydronephrosis	1493	CTLA4	ORPHA:900
HP:0000126	Hydronephrosis	26191	PTPN22	ORPHA:900
HP:0000126	Hydronephrosis	3115	HLA-DPB1	ORPHA:900
HP:0000126	Hydronephrosis	5657	PRTN3	ORPHA:900
HP:0000126	Hydronephrosis	3113	HLA-DPA1	ORPHA:900
HP:0000126	Hydronephrosis	1859	DYRK1A	ORPHA:464311
HP:0000126	Hydronephrosis	2138	EYA1	ORPHA:107
HP:0000126	Hydronephrosis	147912	SIX5	ORPHA:107
HP:0000126	Hydronephrosis	6495	SIX1	ORPHA:107
HP:0000126	Hydronephrosis	79796	ALG9	ORPHA:79328
HP:0000126	Hydronephrosis	2187	FANCB	OMIM:314390
HP:0000126	Hydronephrosis	7547	ZIC3	OMIM:314390
HP:0000126	Hydronephrosis	8314	BAP1	OMIM:619762
HP:0000126	Hydronephrosis	7750	ZMYM2	OMIM:619522
HP:0000126	Hydronephrosis	11041	B4GAT1	OMIM:615287
HP:0000126	Hydronephrosis	2261	FGFR3	ORPHA:2363
HP:0000126	Hydronephrosis	2255	FGF10	ORPHA:2363
HP:0000126	Hydronephrosis	79971	WLS	OMIM:619648
HP:0000126	Hydronephrosis	2065	ERBB3	OMIM:607598
HP:0000126	Hydronephrosis	11128	POLR3A	ORPHA:3455
HP:0000126	Hydronephrosis	9968	MED12	OMIM:301068
HP:0000126	Hydronephrosis	2239	GPC4	ORPHA:373
HP:0000126	Hydronephrosis	2239	GPC4	OMIM:312870
HP:0000126	Hydronephrosis	2719	GPC3	ORPHA:373
HP:0000126	Hydronephrosis	2719	GPC3	OMIM:312870
HP:0000126	Hydronephrosis	79989	IFT56	OMIM:619534
HP:0000126	Hydronephrosis	2625	GATA3	ORPHA:2237
HP:0000126	Hydronephrosis	64321	SOX17	OMIM:613674
HP:0000126	Hydronephrosis	50628	GEMIN4	OMIM:617913
HP:0000126	Hydronephrosis	6885	MAP3K7	ORPHA:1826
HP:0000126	Hydronephrosis	147372	CCBE1	OMIM:235510
HP:0000126	Hydronephrosis	8295	TRRAP	OMIM:618454
HP:0000126	Hydronephrosis	9851	KIAA0753	OMIM:617127
HP:0000126	Hydronephrosis	5081	PAX7	OMIM:618578
HP:0000126	Hydronephrosis	166379	BBS12	OMIM:615989
HP:0000126	Hydronephrosis	1642	DDB1	OMIM:619426
HP:0000126	Hydronephrosis	63895	PIEZO2	ORPHA:2461
HP:0000126	Hydronephrosis	55670	PEX26	ORPHA:912
HP:0000126	Hydronephrosis	5824	PEX19	ORPHA:912
HP:0000126	Hydronephrosis	5828	PEX2	ORPHA:912
HP:0000126	Hydronephrosis	8504	PEX3	ORPHA:912
HP:0000126	Hydronephrosis	8799	PEX11B	ORPHA:912
HP:0000126	Hydronephrosis	9409	PEX16	ORPHA:912
HP:0000126	Hydronephrosis	5190	PEX6	ORPHA:912
HP:0000126	Hydronephrosis	5830	PEX5	ORPHA:912
HP:0000126	Hydronephrosis	5193	PEX12	ORPHA:912
HP:0000126	Hydronephrosis	5194	PEX13	ORPHA:912
HP:0000126	Hydronephrosis	5195	PEX14	ORPHA:912
HP:0000126	Hydronephrosis	5192	PEX10	ORPHA:912
HP:0000126	Hydronephrosis	6654	SOS1	OMIM:610733
HP:0000126	Hydronephrosis	80000	GREB1L	OMIM:617805
HP:0000126	Hydronephrosis	91949	COG7	OMIM:608779
HP:0000126	Hydronephrosis	9759	HDAC4	OMIM:619797
HP:0000126	Hydronephrosis	54892	NCAPG2	OMIM:618460
HP:0000126	Hydronephrosis	72	ACTG2	OMIM:619431
HP:0000126	Hydronephrosis	72	ACTG2	OMIM:155310
HP:0000126	Hydronephrosis	4683	NBN	OMIM:251260
HP:0000126	Hydronephrosis	11020	IFT27	OMIM:615996
HP:0000126	Hydronephrosis	5648	MASP1	OMIM:257920
HP:0000126	Hydronephrosis	57167	SALL4	OMIM:607323
HP:0000126	Hydronephrosis	8626	TP63	OMIM:604292
HP:0000126	Hydronephrosis	8626	TP63	ORPHA:1896
HP:0000126	Hydronephrosis	55593	OTUD5	OMIM:301056
HP:0000126	Hydronephrosis	2972	BRF1	ORPHA:444072
HP:0000126	Hydronephrosis	1387	CREBBP	ORPHA:353281
HP:0000126	Hydronephrosis	1387	CREBBP	OMIM:180849
HP:0000126	Hydronephrosis	1387	CREBBP	ORPHA:353277
HP:0000126	Hydronephrosis	388015	RTL1	ORPHA:254528
HP:0000126	Hydronephrosis	8788	DLK1	ORPHA:254528
HP:0000126	Hydronephrosis	55384	MEG3	ORPHA:254528
HP:0000126	Hydronephrosis	8085	KMT2D	ORPHA:2322
HP:0000126	Hydronephrosis	8085	KMT2D	OMIM:147920
HP:0000126	Hydronephrosis	7403	KDM6A	ORPHA:2322
HP:0000126	Hydronephrosis	7403	KDM6A	OMIM:147920
HP:0000126	Hydronephrosis	998	CDC42	OMIM:616737
HP:0000126	Hydronephrosis	998	CDC42	ORPHA:487796
HP:0000126	Hydronephrosis	2033	EP300	ORPHA:353284
HP:0000126	Hydronephrosis	2033	EP300	OMIM:180849
HP:0000126	Hydronephrosis	389827	MYMK	ORPHA:1358
HP:0000126	Hydronephrosis	101929726	MYMX	ORPHA:1358
HP:0000126	Hydronephrosis	56975	FAM20C	OMIM:259775
HP:0000126	Hydronephrosis	25915	NDUFAF3	OMIM:618240
HP:0000126	Hydronephrosis	85358	SHANK3	ORPHA:48652
HP:0000126	Hydronephrosis	9401	RECQL4	ORPHA:1225
HP:0000126	Hydronephrosis	5604	MAP2K1	ORPHA:1340
HP:0000126	Hydronephrosis	5605	MAP2K2	ORPHA:1340
HP:0000126	Hydronephrosis	3845	KRAS	ORPHA:1340
HP:0000126	Hydronephrosis	2019	EN1	OMIM:619218
HP:0000126	Hydronephrosis	1063	CENPF	OMIM:243605
HP:0000126	Hydronephrosis	8260	NAA10	ORPHA:568
HP:0000126	Hydronephrosis	54880	BCOR	ORPHA:568
HP:0000126	Hydronephrosis	6469	SHH	OMIM:142945
HP:0000126	Hydronephrosis	23111	SPART	ORPHA:101000
HP:0000126	Hydronephrosis	1822	ATN1	OMIM:618494
HP:0000126	Hydronephrosis	2260	FGFR1	OMIM:613001
HP:0000126	Hydronephrosis	2313	FLI1	ORPHA:2308
HP:0000126	Hydronephrosis	2737	GLI3	OMIM:146510
HP:0000126	Hydronephrosis	760	CA2	ORPHA:2785
HP:0000126	Hydronephrosis	1499	CTNNB1	ORPHA:873
HP:0000126	Hydronephrosis	324	APC	ORPHA:873
HP:0000126	Hydronephrosis	64840	PORCN	OMIM:305600
HP:0000126	Hydronephrosis	64840	PORCN	ORPHA:2092
HP:0000126	Hydronephrosis	4613	MYCN	ORPHA:391641
HP:0000126	Hydronephrosis	10526	IPO8	OMIM:619472
HP:0000126	Hydronephrosis	2892	GRIA3	ORPHA:364028
HP:0000126	Hydronephrosis	5530	PPP3CA	OMIM:618265
HP:0000126	Hydronephrosis	975	CD81	OMIM:613496
HP:0000126	Hydronephrosis	92002	CCNQ	OMIM:300707
HP:0000126	Hydronephrosis	54796	BNC2	ORPHA:93110
HP:0000126	Hydronephrosis	526	ATP6V1B2	ORPHA:79500
HP:0000126	Hydronephrosis	57465	TBC1D24	ORPHA:79500
HP:0000126	Hydronephrosis	80781	COL18A1	OMIM:267750
HP:0000126	Hydronephrosis	8204	NRIP1	OMIM:618270
HP:0000126	Hydronephrosis	55617	TASP1	OMIM:618950
HP:0000126	Hydronephrosis	51715	RAB23	OMIM:201000
HP:0000126	Hydronephrosis	25802	LMOD1	OMIM:619362
HP:0000126	Hydronephrosis	202018	TAPT1	OMIM:616897
HP:0000126	Hydronephrosis	1028	CDKN1C	ORPHA:85173
HP:0000126	Hydronephrosis	5426	POLE	ORPHA:85173
HP:0000126	Hydronephrosis	1376	CPT2	OMIM:608836
HP:0000126	Hydronephrosis	403	ARL3	OMIM:618161
HP:0000126	Hydronephrosis	9897	WASHC5	OMIM:220210
HP:0000126	Hydronephrosis	9897	WASHC5	ORPHA:7
HP:0000126	Hydronephrosis	5889	RAD51C	OMIM:613390
HP:0000126	Hydronephrosis	100151683	RNU4ATAC	ORPHA:2636
HP:0000126	Hydronephrosis	10491	CRTAP	OMIM:610682
HP:0000126	Hydronephrosis	5236	PGM1	OMIM:614921
HP:0000126	Hydronephrosis	8481	OFD1	ORPHA:2750
HP:0000126	Hydronephrosis	219844	HYLS1	OMIM:236680
HP:0000126	Hydronephrosis	22930	RAB3GAP1	ORPHA:2510
HP:0000126	Hydronephrosis	25782	RAB3GAP2	ORPHA:2510
HP:0000126	Hydronephrosis	22931	RAB18	ORPHA:2510
HP:0000126	Hydronephrosis	128637	TBC1D20	ORPHA:2510
HP:0000126	Hydronephrosis	71	ACTG1	ORPHA:2995
HP:0000126	Hydronephrosis	60	ACTB	ORPHA:2995
HP:0000126	Hydronephrosis	7474	WNT5A	OMIM:180700
HP:0000126	Hydronephrosis	1855	DVL1	OMIM:180700
HP:0000126	Hydronephrosis	3239	HOXD13	ORPHA:887
HP:0000126	Hydronephrosis	28952	CCDC22	ORPHA:7
HP:0000126	Hydronephrosis	6913	TBX15	OMIM:260660
HP:0000126	Hydronephrosis	375056	MIA3	OMIM:619269
HP:0000126	Hydronephrosis	4281	MID1	ORPHA:2745
HP:0000126	Hydronephrosis	4654	MYOD1	OMIM:618975
HP:0000126	Hydronephrosis	11005	SPINK5	ORPHA:634
HP:0000127	Renal salt wasting	6337	SCNN1A	OMIM:264350
HP:0000127	Renal salt wasting	1589	CYP21A2	OMIM:201910
HP:0000127	Renal salt wasting	6770	STAR	OMIM:201710
HP:0000127	Renal salt wasting	6770	STAR	ORPHA:361
HP:0000127	Renal salt wasting	7809	BSND	ORPHA:89938
HP:0000127	Renal salt wasting	7809	BSND	OMIM:602522
HP:0000127	Renal salt wasting	1188	CLCNKB	ORPHA:89938
HP:0000127	Renal salt wasting	1188	CLCNKB	OMIM:613090
HP:0000127	Renal salt wasting	1188	CLCNKB	OMIM:607364
HP:0000127	Renal salt wasting	1187	CLCNKA	ORPHA:89938
HP:0000127	Renal salt wasting	1187	CLCNKA	OMIM:613090
HP:0000127	Renal salt wasting	3766	KCNJ10	OMIM:612780
HP:0000127	Renal salt wasting	3766	KCNJ10	ORPHA:199343
HP:0000127	Renal salt wasting	1583	CYP11A1	ORPHA:168558
HP:0000127	Renal salt wasting	1583	CYP11A1	ORPHA:289548
HP:0000127	Renal salt wasting	1583	CYP11A1	OMIM:613743
HP:0000127	Renal salt wasting	1585	CYP11B2	OMIM:203400
HP:0000127	Renal salt wasting	1585	CYP11B2	OMIM:610600
HP:0000127	Renal salt wasting	56246	MRAP	ORPHA:361
HP:0000127	Renal salt wasting	4158	MC2R	ORPHA:361
HP:0000127	Renal salt wasting	23530	NNT	ORPHA:361
HP:0000127	Renal salt wasting	23530	NNT	OMIM:614736
HP:0000127	Renal salt wasting	10587	TXNRD2	ORPHA:361
HP:0000127	Renal salt wasting	190	NR0B1	OMIM:300200
HP:0000127	Renal salt wasting	6557	SLC12A1	OMIM:601678
HP:0000127	Renal salt wasting	3758	KCNJ1	OMIM:241200
HP:0000127	Renal salt wasting	4582	MUC1	OMIM:174000
HP:0000127	Renal salt wasting	3773	KCNJ16	OMIM:619406
HP:0000127	Renal salt wasting	54938	SARS2	OMIM:613845
HP:0000127	Renal salt wasting	3284	HSD3B2	ORPHA:90791
HP:0000127	Renal salt wasting	1584	CYP11B1	ORPHA:90795
HP:0000128	Renal potassium wasting	476	ATP1A1	OMIM:618314
HP:0000128	Renal potassium wasting	476	ATP1A1	ORPHA:564178
HP:0000128	Renal potassium wasting	6557	SLC12A1	OMIM:601678
HP:0000128	Renal potassium wasting	6559	SLC12A3	OMIM:263800
HP:0000128	Renal potassium wasting	6559	SLC12A3	ORPHA:358
HP:0000128	Renal potassium wasting	1188	CLCNKB	ORPHA:358
HP:0000128	Renal potassium wasting	1188	CLCNKB	OMIM:607364
HP:0000128	Renal potassium wasting	3758	KCNJ1	OMIM:241200
HP:0000128	Renal potassium wasting	3766	KCNJ10	OMIM:612780
HP:0010342	Abnormality of the phalanges of the 5th toe	51776	MAP3K20	ORPHA:488232
HP:0010342	Abnormality of the phalanges of the 5th toe	6597	SMARCA4	OMIM:614609
HP:0010342	Abnormality of the phalanges of the 5th toe	3782	KCNN3	OMIM:618658
HP:0010342	Abnormality of the phalanges of the 5th toe	57492	ARID1B	OMIM:135900
HP:0010342	Abnormality of the phalanges of the 5th toe	9241	NOG	OMIM:186500
HP:0010343	Aplasia/Hypoplasia of the 5th toe	6597	SMARCA4	OMIM:614609
HP:0010343	Aplasia/Hypoplasia of the 5th toe	3782	KCNN3	OMIM:618658
HP:0010343	Aplasia/Hypoplasia of the 5th toe	57492	ARID1B	OMIM:135900
HP:0010343	Aplasia/Hypoplasia of the 5th toe	9241	NOG	OMIM:186500
HP:0010344	Deviation of the 5th toe	10195	ALG3	OMIM:601110
HP:0010344	Deviation of the 5th toe	6299	SALL1	OMIM:107480
HP:0010344	Deviation of the 5th toe	5283	PIGH	OMIM:618010
HP:0010344	Deviation of the 5th toe	341208	HEPHL1	OMIM:261990
HP:0010344	Deviation of the 5th toe	25782	RAB3GAP2	OMIM:614225
HP:0010344	Deviation of the 5th toe	6049	RNF6	ORPHA:99977
HP:0010344	Deviation of the 5th toe	7048	TGFBR2	ORPHA:99977
HP:0010344	Deviation of the 5th toe	51741	WWOX	ORPHA:99977
HP:0010344	Deviation of the 5th toe	9940	DLEC1	ORPHA:99977
HP:0010344	Deviation of the 5th toe	118924	FRA10AC1	OMIM:620113
HP:0010344	Deviation of the 5th toe	150468	CKAP2L	ORPHA:3255
HP:0010344	Deviation of the 5th toe	3759	KCNJ2	OMIM:170390
HP:0010344	Deviation of the 5th toe	3759	KCNJ2	ORPHA:37553
HP:0010344	Deviation of the 5th toe	3762	KCNJ5	ORPHA:37553
HP:0010344	Deviation of the 5th toe	93587	TRMT10A	ORPHA:391408
HP:0010344	Deviation of the 5th toe	84919	PPP1R15B	ORPHA:391408
HP:0010344	Deviation of the 5th toe	22856	CHSY1	ORPHA:363417
HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	526	ATP6V1B2	ORPHA:79500
HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	57465	TBC1D24	ORPHA:79500
HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0030774	Mitochondrial swelling	2271	FH	OMIM:606812
HP:0030774	Mitochondrial swelling	55863	TMEM126B	OMIM:618250
HP:0030774	Mitochondrial swelling	79784	MYH14	ORPHA:397744
HP:0030774	Mitochondrial swelling	57128	LYRM4	OMIM:615595
HP:0030780	Abnormality of the protein C anticoagulant pathway	5627	PROS1	OMIM:614514
HP:0030780	Abnormality of the protein C anticoagulant pathway	5627	PROS1	OMIM:612336
HP:0030780	Abnormality of the protein C anticoagulant pathway	1798	DPAGT1	ORPHA:86309
HP:0030780	Abnormality of the protein C anticoagulant pathway	4351	MPI	ORPHA:79319
HP:0030780	Abnormality of the protein C anticoagulant pathway	8813	DPM1	OMIM:608799
HP:0030780	Abnormality of the protein C anticoagulant pathway	8813	DPM1	ORPHA:79322
HP:0030780	Abnormality of the protein C anticoagulant pathway	2677	GGCX	OMIM:277450
HP:0030780	Abnormality of the protein C anticoagulant pathway	5624	PROC	OMIM:612304
HP:0030780	Abnormality of the protein C anticoagulant pathway	5624	PROC	OMIM:176860
HP:0030780	Abnormality of the protein C anticoagulant pathway	29929	ALG6	ORPHA:79320
HP:0030780	Abnormality of the protein C anticoagulant pathway	55768	NGLY1	ORPHA:404454
HP:0030780	Abnormality of the protein C anticoagulant pathway	2683	B4GALT1	ORPHA:79332
HP:0030780	Abnormality of the protein C anticoagulant pathway	79087	ALG12	ORPHA:79324
HP:0030780	Abnormality of the protein C anticoagulant pathway	79053	ALG8	ORPHA:79325
HP:0030780	Abnormality of the protein C anticoagulant pathway	2153	F5	OMIM:188055
HP:0030781	Increased circulating free fatty acid level	37	ACADVL	ORPHA:26793
HP:0030781	Increased circulating free fatty acid level	208	AKT2	ORPHA:293964
HP:0030781	Increased circulating free fatty acid level	3033	HADH	ORPHA:71212
HP:0030781	Increased circulating free fatty acid level	22845	DOLK	OMIM:610768
HP:0030781	Increased circulating free fatty acid level	132158	GLYCTK	ORPHA:941
HP:0030782	Abnormal circulating interleukin concentration	355	FAS	ORPHA:3261
HP:0030782	Abnormal circulating interleukin concentration	356	FASLG	ORPHA:3261
HP:0030782	Abnormal circulating interleukin concentration	5580	PRKCD	ORPHA:3261
HP:0030782	Abnormal circulating interleukin concentration	843	CASP10	ORPHA:3261
HP:0030782	Abnormal circulating interleukin concentration	10125	RASGRP1	ORPHA:3261
HP:0030782	Abnormal circulating interleukin concentration	3594	IL12RB1	ORPHA:319552
HP:0030782	Abnormal circulating interleukin concentration	3431	SP110	ORPHA:79124
HP:0030782	Abnormal circulating interleukin concentration	6775	STAT4	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	3560	IL2RB	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	79722	ANKRD55	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	26191	PTPN22	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	919	CD247	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	3559	IL2RA	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	5771	PTPN2	ORPHA:85410
HP:0030782	Abnormal circulating interleukin concentration	5205	ATP8B1	ORPHA:69665
HP:0030782	Abnormal circulating interleukin concentration	8647	ABCB11	ORPHA:69665
HP:0030782	Abnormal circulating interleukin concentration	5244	ABCB4	ORPHA:69665
HP:0030782	Abnormal circulating interleukin concentration	9971	NR1H4	ORPHA:69665
HP:0030782	Abnormal circulating interleukin concentration	5551	PRF1	ORPHA:540
HP:0030782	Abnormal circulating interleukin concentration	8676	STX11	ORPHA:540
HP:0030782	Abnormal circulating interleukin concentration	201294	UNC13D	ORPHA:540
HP:0030782	Abnormal circulating interleukin concentration	6813	STXBP2	ORPHA:540
HP:0030782	Abnormal circulating interleukin concentration	2000	ELF4	OMIM:301074
HP:0030782	Abnormal circulating interleukin concentration	3162	HMOX1	OMIM:614034
HP:0030782	Abnormal circulating interleukin concentration	3570	IL6R	OMIM:618944
HP:0030782	Abnormal circulating interleukin concentration	54440	SASH3	OMIM:301082
HP:0030782	Abnormal circulating interleukin concentration	4210	MEFV	ORPHA:3243
HP:0030782	Abnormal circulating interleukin concentration	4210	MEFV	OMIM:608068
HP:0030782	Abnormal circulating interleukin concentration	5422	POLA1	OMIM:301220
HP:0030782	Abnormal circulating interleukin concentration	5696	PSMB8	OMIM:256040
HP:0030782	Abnormal circulating interleukin concentration	8772	FADD	OMIM:613759
HP:0030782	Abnormal circulating interleukin concentration	29775	CARD10	OMIM:619632
HP:0030783	Increased circulating interleukin 6 concentration	5551	PRF1	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	8676	STX11	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	201294	UNC13D	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	6813	STXBP2	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	2000	ELF4	OMIM:301074
HP:0030783	Increased circulating interleukin 6 concentration	3162	HMOX1	OMIM:614034
HP:0030783	Increased circulating interleukin 6 concentration	3570	IL6R	OMIM:618944
HP:0030783	Increased circulating interleukin 6 concentration	5696	PSMB8	OMIM:256040
HP:0030783	Increased circulating interleukin 6 concentration	54440	SASH3	OMIM:301082
HP:0030783	Increased circulating interleukin 6 concentration	4210	MEFV	ORPHA:3243
HP:0030783	Increased circulating interleukin 6 concentration	4210	MEFV	OMIM:608068
HP:0000133	Gonadal dysgenesis	23414	ZFPM2	OMIM:616067
HP:0000133	Gonadal dysgenesis	23414	ZFPM2	ORPHA:251510
HP:0000133	Gonadal dysgenesis	4659	PPP1R12A	OMIM:618820
HP:0000133	Gonadal dysgenesis	2516	NR5A1	OMIM:612964
HP:0000133	Gonadal dysgenesis	2516	NR5A1	OMIM:612965
HP:0000133	Gonadal dysgenesis	2516	NR5A1	ORPHA:243
HP:0000133	Gonadal dysgenesis	2516	NR5A1	OMIM:617480
HP:0000133	Gonadal dysgenesis	2516	NR5A1	ORPHA:251510
HP:0000133	Gonadal dysgenesis	50846	DHH	OMIM:607080
HP:0000133	Gonadal dysgenesis	50846	DHH	ORPHA:168563
HP:0000133	Gonadal dysgenesis	7490	WT1	OMIM:194080
HP:0000133	Gonadal dysgenesis	7490	WT1	OMIM:136680
HP:0000133	Gonadal dysgenesis	7490	WT1	ORPHA:220
HP:0000133	Gonadal dysgenesis	7490	WT1	ORPHA:251510
HP:0000133	Gonadal dysgenesis	404672	GTF2H5	ORPHA:33364
HP:0000133	Gonadal dysgenesis	833	CARS1	ORPHA:33364
HP:0000133	Gonadal dysgenesis	2068	ERCC2	ORPHA:33364
HP:0000133	Gonadal dysgenesis	7737	RNF113A	ORPHA:33364
HP:0000133	Gonadal dysgenesis	136647	MPLKIP	ORPHA:33364
HP:0000133	Gonadal dysgenesis	6897	TARS1	ORPHA:33364
HP:0000133	Gonadal dysgenesis	2071	ERCC3	ORPHA:33364
HP:0000133	Gonadal dysgenesis	2961	GTF2E2	ORPHA:33364
HP:0000133	Gonadal dysgenesis	6736	SRY	OMIM:400044
HP:0000133	Gonadal dysgenesis	6736	SRY	ORPHA:251510
HP:0000133	Gonadal dysgenesis	29893	PSMC3IP	ORPHA:243
HP:0000133	Gonadal dysgenesis	171568	POLR3H	ORPHA:243
HP:0000133	Gonadal dysgenesis	125150	ZSWIM7	ORPHA:243
HP:0000133	Gonadal dysgenesis	9210	BMP15	ORPHA:243
HP:0000133	Gonadal dysgenesis	57122	NUP107	ORPHA:243
HP:0000133	Gonadal dysgenesis	23514	SPIDR	ORPHA:243
HP:0000133	Gonadal dysgenesis	2492	FSHR	ORPHA:243
HP:0000133	Gonadal dysgenesis	2492	FSHR	OMIM:233300
HP:0000133	Gonadal dysgenesis	56945	MRPS22	ORPHA:243
HP:0000133	Gonadal dysgenesis	646	BNC1	ORPHA:243
HP:0000133	Gonadal dysgenesis	114034	TOE1	ORPHA:284339
HP:0000133	Gonadal dysgenesis	9562	MINPP1	ORPHA:284339
HP:0000133	Gonadal dysgenesis	10329	RXYLT1	OMIM:615041
HP:0000133	Gonadal dysgenesis	56652	TWNK	OMIM:616138
HP:0000133	Gonadal dysgenesis	55012	PPP2R3C	OMIM:618419
HP:0000133	Gonadal dysgenesis	4214	MAP3K1	OMIM:613762
HP:0000133	Gonadal dysgenesis	4214	MAP3K1	ORPHA:251510
HP:0000133	Gonadal dysgenesis	3295	HSD17B4	OMIM:233400
HP:0000133	Gonadal dysgenesis	6662	SOX9	ORPHA:251510
HP:0000133	Gonadal dysgenesis	6845	VAMP7	ORPHA:251510
HP:0000133	Gonadal dysgenesis	51741	WWOX	ORPHA:251510
HP:0000133	Gonadal dysgenesis	58524	DMRT3	ORPHA:251510
HP:0000133	Gonadal dysgenesis	57647	DHX37	ORPHA:251510
HP:0000133	Gonadal dysgenesis	190	NR0B1	ORPHA:251510
HP:0000133	Gonadal dysgenesis	2626	GATA4	ORPHA:251510
HP:0000134	Female hypogonadism	64072	CDH23	ORPHA:91347
HP:0000134	Female hypogonadism	64072	CDH23	ORPHA:2965
HP:0000134	Female hypogonadism	4221	MEN1	ORPHA:2965
HP:0000134	Female hypogonadism	9049	AIP	ORPHA:2965
HP:0000134	Female hypogonadism	4000	LMNA	ORPHA:740
HP:0000134	Female hypogonadism	10269	ZMPSTE24	ORPHA:740
HP:0000134	Female hypogonadism	2260	FGFR1	ORPHA:432
HP:0000134	Female hypogonadism	81848	SPRY4	ORPHA:432
HP:0000134	Female hypogonadism	128674	PROKR2	ORPHA:432
HP:0000134	Female hypogonadism	2253	FGF8	ORPHA:432
HP:0000134	Female hypogonadism	60675	PROK2	ORPHA:432
HP:0000134	Female hypogonadism	55636	CHD7	ORPHA:432
HP:0000134	Female hypogonadism	6870	TACR3	ORPHA:432
HP:0000134	Female hypogonadism	1848	DUSP6	ORPHA:432
HP:0000134	Female hypogonadism	26012	NSMF	ORPHA:432
HP:0000134	Female hypogonadism	55717	WDR11	ORPHA:432
HP:0000134	Female hypogonadism	9394	HS6ST1	ORPHA:432
HP:0000134	Female hypogonadism	2796	GNRH1	ORPHA:432
HP:0000134	Female hypogonadism	2798	GNRHR	ORPHA:432
HP:0000134	Female hypogonadism	84634	KISS1R	ORPHA:432
HP:0000134	Female hypogonadism	6866	TAC3	ORPHA:432
HP:0000134	Female hypogonadism	8822	FGF17	ORPHA:432
HP:0000134	Female hypogonadism	3814	KISS1	ORPHA:432
HP:0000134	Female hypogonadism	472	ATM	OMIM:208900
HP:0000134	Female hypogonadism	652	BMP4	OMIM:607932
HP:0000134	Female hypogonadism	2488	FSHB	ORPHA:52901
HP:0000134	Female hypogonadism	5618	PRLR	ORPHA:397685
HP:0000134	Female hypogonadism	326	AIRE	OMIM:240300
HP:0000135	Hypogonadism	26160	IFT172	OMIM:619471
HP:0000135	Hypogonadism	1497	CTNS	OMIM:219800
HP:0000135	Hypogonadism	4204	MECP2	OMIM:300055
HP:0000135	Hypogonadism	215	ABCD1	ORPHA:139396
HP:0000135	Hypogonadism	64682	ANAPC1	OMIM:618625
HP:0000135	Hypogonadism	493856	CISD2	ORPHA:3463
HP:0000135	Hypogonadism	7466	WFS1	ORPHA:3463
HP:0000135	Hypogonadism	7466	WFS1	ORPHA:411590
HP:0000135	Hypogonadism	1161	ERCC8	ORPHA:90321
HP:0000135	Hypogonadism	1161	ERCC8	ORPHA:90322
HP:0000135	Hypogonadism	2072	ERCC4	ORPHA:90321
HP:0000135	Hypogonadism	2074	ERCC6	ORPHA:90321
HP:0000135	Hypogonadism	2074	ERCC6	ORPHA:90322
HP:0000135	Hypogonadism	2067	ERCC1	ORPHA:90322
HP:0000135	Hypogonadism	1968	EIF2S3	OMIM:300148
HP:0000135	Hypogonadism	5424	POLD1	OMIM:615381
HP:0000135	Hypogonadism	2260	FGFR1	ORPHA:432
HP:0000135	Hypogonadism	2260	FGFR1	OMIM:147950
HP:0000135	Hypogonadism	2260	FGFR1	ORPHA:478
HP:0000135	Hypogonadism	81848	SPRY4	ORPHA:432
HP:0000135	Hypogonadism	81848	SPRY4	OMIM:615266
HP:0000135	Hypogonadism	81848	SPRY4	OMIM:146110
HP:0000135	Hypogonadism	81848	SPRY4	ORPHA:478
HP:0000135	Hypogonadism	128674	PROKR2	ORPHA:432
HP:0000135	Hypogonadism	128674	PROKR2	OMIM:244200
HP:0000135	Hypogonadism	128674	PROKR2	ORPHA:478
HP:0000135	Hypogonadism	2253	FGF8	ORPHA:432
HP:0000135	Hypogonadism	2253	FGF8	OMIM:612702
HP:0000135	Hypogonadism	2253	FGF8	ORPHA:478
HP:0000135	Hypogonadism	60675	PROK2	ORPHA:432
HP:0000135	Hypogonadism	60675	PROK2	OMIM:610628
HP:0000135	Hypogonadism	60675	PROK2	ORPHA:478
HP:0000135	Hypogonadism	55636	CHD7	ORPHA:432
HP:0000135	Hypogonadism	55636	CHD7	OMIM:612370
HP:0000135	Hypogonadism	55636	CHD7	ORPHA:138
HP:0000135	Hypogonadism	55636	CHD7	OMIM:214800
HP:0000135	Hypogonadism	55636	CHD7	ORPHA:478
HP:0000135	Hypogonadism	6870	TACR3	ORPHA:432
HP:0000135	Hypogonadism	6870	TACR3	OMIM:614840
HP:0000135	Hypogonadism	6870	TACR3	ORPHA:478
HP:0000135	Hypogonadism	1848	DUSP6	ORPHA:432
HP:0000135	Hypogonadism	1848	DUSP6	OMIM:615269
HP:0000135	Hypogonadism	1848	DUSP6	OMIM:146110
HP:0000135	Hypogonadism	1848	DUSP6	ORPHA:478
HP:0000135	Hypogonadism	26012	NSMF	ORPHA:432
HP:0000135	Hypogonadism	26012	NSMF	OMIM:614838
HP:0000135	Hypogonadism	55717	WDR11	ORPHA:432
HP:0000135	Hypogonadism	55717	WDR11	OMIM:146110
HP:0000135	Hypogonadism	55717	WDR11	OMIM:614858
HP:0000135	Hypogonadism	55717	WDR11	ORPHA:478
HP:0000135	Hypogonadism	9394	HS6ST1	ORPHA:432
HP:0000135	Hypogonadism	9394	HS6ST1	ORPHA:478
HP:0000135	Hypogonadism	2796	GNRH1	ORPHA:432
HP:0000135	Hypogonadism	2796	GNRH1	OMIM:614841
HP:0000135	Hypogonadism	2796	GNRH1	OMIM:146110
HP:0000135	Hypogonadism	2798	GNRHR	ORPHA:432
HP:0000135	Hypogonadism	2798	GNRHR	OMIM:146110
HP:0000135	Hypogonadism	84634	KISS1R	ORPHA:432
HP:0000135	Hypogonadism	84634	KISS1R	OMIM:614837
HP:0000135	Hypogonadism	6866	TAC3	ORPHA:432
HP:0000135	Hypogonadism	6866	TAC3	OMIM:614839
HP:0000135	Hypogonadism	8822	FGF17	ORPHA:432
HP:0000135	Hypogonadism	8822	FGF17	OMIM:146110
HP:0000135	Hypogonadism	8822	FGF17	ORPHA:478
HP:0000135	Hypogonadism	3814	KISS1	ORPHA:432
HP:0000135	Hypogonadism	3814	KISS1	OMIM:614842
HP:0000135	Hypogonadism	5888	RAD51	ORPHA:238722
HP:0000135	Hypogonadism	10126	DNAL4	ORPHA:238722
HP:0000135	Hypogonadism	9423	NTN1	ORPHA:238722
HP:0000135	Hypogonadism	1630	DCC	ORPHA:238722
HP:0000135	Hypogonadism	1630	DCC	ORPHA:478
HP:0000135	Hypogonadism	4558	MT-TF	ORPHA:550
HP:0000135	Hypogonadism	4572	MT-TQ	ORPHA:550
HP:0000135	Hypogonadism	4512	MT-CO1	ORPHA:550
HP:0000135	Hypogonadism	4513	MT-CO2	ORPHA:550
HP:0000135	Hypogonadism	4514	MT-CO3	ORPHA:550
HP:0000135	Hypogonadism	4578	MT-TW	ORPHA:550
HP:0000135	Hypogonadism	4540	MT-ND5	ORPHA:550
HP:0000135	Hypogonadism	4541	MT-ND6	ORPHA:550
HP:0000135	Hypogonadism	4535	MT-ND1	ORPHA:550
HP:0000135	Hypogonadism	4538	MT-ND4	ORPHA:550
HP:0000135	Hypogonadism	4567	MT-TL1	ORPHA:550
HP:0000135	Hypogonadism	4574	MT-TS1	ORPHA:550
HP:0000135	Hypogonadism	4575	MT-TS2	ORPHA:550
HP:0000135	Hypogonadism	4564	MT-TH	ORPHA:550
HP:0000135	Hypogonadism	55703	POLR3B	OMIM:614381
HP:0000135	Hypogonadism	55703	POLR3B	OMIM:607694
HP:0000135	Hypogonadism	51728	POLR3K	OMIM:619310
HP:0000135	Hypogonadism	6938	TCF12	OMIM:619718
HP:0000135	Hypogonadism	100151683	RNU4ATAC	ORPHA:353298
HP:0000135	Hypogonadism	148738	HJV	OMIM:602390
HP:0000135	Hypogonadism	8626	TP63	OMIM:604292
HP:0000135	Hypogonadism	7681	MKRN3	OMIM:176270
HP:0000135	Hypogonadism	3653	IPW	OMIM:176270
HP:0000135	Hypogonadism	54551	MAGEL2	OMIM:176270
HP:0000135	Hypogonadism	54551	MAGEL2	ORPHA:177904
HP:0000135	Hypogonadism	54551	MAGEL2	ORPHA:177901
HP:0000135	Hypogonadism	54551	MAGEL2	ORPHA:177910
HP:0000135	Hypogonadism	54551	MAGEL2	ORPHA:98754
HP:0000135	Hypogonadism	791114	PWRN1	OMIM:176270
HP:0000135	Hypogonadism	100033413	SNORD116-1	OMIM:176270
HP:0000135	Hypogonadism	8924	HERC2	OMIM:176270
HP:0000135	Hypogonadism	145624	PWAR1	OMIM:176270
HP:0000135	Hypogonadism	23742	NPAP1	OMIM:176270
HP:0000135	Hypogonadism	338433	SNORD115-1	OMIM:176270
HP:0000135	Hypogonadism	9150	CTDP1	OMIM:604168
HP:0000135	Hypogonadism	9150	CTDP1	ORPHA:48431
HP:0000135	Hypogonadism	2488	FSHB	ORPHA:52901
HP:0000135	Hypogonadism	4221	MEN1	ORPHA:2965
HP:0000135	Hypogonadism	64072	CDH23	ORPHA:2965
HP:0000135	Hypogonadism	64072	CDH23	ORPHA:91347
HP:0000135	Hypogonadism	9049	AIP	ORPHA:2965
HP:0000135	Hypogonadism	9049	AIP	ORPHA:963
HP:0000135	Hypogonadism	6492	SIM1	ORPHA:398079
HP:0000135	Hypogonadism	1363	CPE	OMIM:619326
HP:0000135	Hypogonadism	54476	RNF216	OMIM:212840
HP:0000135	Hypogonadism	54476	RNF216	ORPHA:1173
HP:0000135	Hypogonadism	25782	RAB3GAP2	OMIM:212720
HP:0000135	Hypogonadism	25782	RAB3GAP2	ORPHA:1387
HP:0000135	Hypogonadism	10908	PNPLA6	OMIM:275400
HP:0000135	Hypogonadism	10908	PNPLA6	ORPHA:1180
HP:0000135	Hypogonadism	10908	PNPLA6	ORPHA:1173
HP:0000135	Hypogonadism	10908	PNPLA6	OMIM:215470
HP:0000135	Hypogonadism	9723	SEMA3E	ORPHA:138
HP:0000135	Hypogonadism	9723	SEMA3E	OMIM:146110
HP:0000135	Hypogonadism	5428	POLG	ORPHA:298
HP:0000135	Hypogonadism	1890	TYMP	ORPHA:298
HP:0000135	Hypogonadism	3980	LIG3	ORPHA:298
HP:0000135	Hypogonadism	50484	RRM2B	ORPHA:298
HP:0000135	Hypogonadism	5980	REV3L	ORPHA:570
HP:0000135	Hypogonadism	23129	PLXND1	ORPHA:570
HP:0000135	Hypogonadism	6638	SNRPN	ORPHA:177904
HP:0000135	Hypogonadism	6638	SNRPN	ORPHA:177901
HP:0000135	Hypogonadism	6638	SNRPN	ORPHA:177910
HP:0000135	Hypogonadism	6638	SNRPN	ORPHA:177907
HP:0000135	Hypogonadism	6638	SNRPN	ORPHA:98754
HP:0000135	Hypogonadism	4692	NDN	ORPHA:177904
HP:0000135	Hypogonadism	4692	NDN	ORPHA:177901
HP:0000135	Hypogonadism	4692	NDN	ORPHA:177910
HP:0000135	Hypogonadism	4692	NDN	ORPHA:98754
HP:0000135	Hypogonadism	4948	OCA2	ORPHA:177904
HP:0000135	Hypogonadism	4948	OCA2	ORPHA:177901
HP:0000135	Hypogonadism	4948	OCA2	ORPHA:98754
HP:0000135	Hypogonadism	1108	CHD4	OMIM:617159
HP:0000135	Hypogonadism	55366	LGR4	OMIM:619613
HP:0000135	Hypogonadism	83550	GPR101	ORPHA:963
HP:0000135	Hypogonadism	5422	POLA1	OMIM:301030
HP:0000135	Hypogonadism	23347	SMCHD1	OMIM:603457
HP:0000135	Hypogonadism	23312	DMXL2	OMIM:616113
HP:0000135	Hypogonadism	23312	DMXL2	ORPHA:453533
HP:0000135	Hypogonadism	558	AXL	OMIM:146110
HP:0000135	Hypogonadism	10011	SRA1	OMIM:146110
HP:0000135	Hypogonadism	285025	CCDC141	OMIM:146110
HP:0000135	Hypogonadism	285025	CCDC141	ORPHA:478
HP:0000135	Hypogonadism	389549	FEZF1	OMIM:146110
HP:0000135	Hypogonadism	389549	FEZF1	ORPHA:478
HP:0000135	Hypogonadism	4990	SIX6	OMIM:206900
HP:0000135	Hypogonadism	6657	SOX2	OMIM:206900
HP:0000135	Hypogonadism	3077	HFE	OMIM:235200
HP:0000135	Hypogonadism	3077	HFE	ORPHA:465508
HP:0000135	Hypogonadism	650	BMP2	OMIM:235200
HP:0000135	Hypogonadism	1499	CTNNB1	ORPHA:54595
HP:0000135	Hypogonadism	673	BRAF	ORPHA:54595
HP:0000135	Hypogonadism	3293	HSD17B3	ORPHA:752
HP:0000135	Hypogonadism	55131	RBM28	ORPHA:157954
HP:0000135	Hypogonadism	55131	RBM28	OMIM:612079
HP:0000135	Hypogonadism	5626	PROP1	ORPHA:226307
HP:0000135	Hypogonadism	5626	PROP1	ORPHA:95494
HP:0000135	Hypogonadism	5626	PROP1	ORPHA:90695
HP:0000135	Hypogonadism	89884	LHX4	ORPHA:226307
HP:0000135	Hypogonadism	89884	LHX4	ORPHA:95494
HP:0000135	Hypogonadism	8022	LHX3	ORPHA:226307
HP:0000135	Hypogonadism	5449	POU1F1	ORPHA:226307
HP:0000135	Hypogonadism	5449	POU1F1	ORPHA:95494
HP:0000135	Hypogonadism	8820	HESX1	ORPHA:226307
HP:0000135	Hypogonadism	8820	HESX1	ORPHA:95494
HP:0000135	Hypogonadism	8820	HESX1	ORPHA:478
HP:0000135	Hypogonadism	6804	STX1A	ORPHA:904
HP:0000135	Hypogonadism	7461	CLIP2	ORPHA:904
HP:0000135	Hypogonadism	84277	DNAJC30	ORPHA:904
HP:0000135	Hypogonadism	8468	FKBP6	ORPHA:904
HP:0000135	Hypogonadism	5982	RFC2	ORPHA:904
HP:0000135	Hypogonadism	2969	GTF2I	ORPHA:904
HP:0000135	Hypogonadism	3984	LIMK1	ORPHA:904
HP:0000135	Hypogonadism	9569	GTF2IRD1	ORPHA:904
HP:0000135	Hypogonadism	155382	VPS37D	ORPHA:904
HP:0000135	Hypogonadism	155368	METTL27	ORPHA:904
HP:0000135	Hypogonadism	114049	BUD23	ORPHA:904
HP:0000135	Hypogonadism	7458	EIF4H	ORPHA:904
HP:0000135	Hypogonadism	84163	GTF2IRD2	ORPHA:904
HP:0000135	Hypogonadism	9275	BCL7B	ORPHA:904
HP:0000135	Hypogonadism	26608	TBL2	ORPHA:904
HP:0000135	Hypogonadism	653361	NCF1	ORPHA:904
HP:0000135	Hypogonadism	135886	TMEM270	ORPHA:904
HP:0000135	Hypogonadism	51085	MLXIPL	ORPHA:904
HP:0000135	Hypogonadism	9031	BAZ1B	ORPHA:904
HP:0000135	Hypogonadism	2006	ELN	ORPHA:904
HP:0000135	Hypogonadism	8314	BAP1	ORPHA:2495
HP:0000135	Hypogonadism	4771	NF2	ORPHA:2495
HP:0000135	Hypogonadism	6598	SMARCB1	ORPHA:2495
HP:0000135	Hypogonadism	5155	PDGFB	ORPHA:2495
HP:0000135	Hypogonadism	84231	TRAF7	ORPHA:2495
HP:0000135	Hypogonadism	6608	SMO	ORPHA:2495
HP:0000135	Hypogonadism	207	AKT1	ORPHA:2495
HP:0000135	Hypogonadism	5290	PIK3CA	ORPHA:2495
HP:0000135	Hypogonadism	7015	TERT	ORPHA:2495
HP:0000135	Hypogonadism	51684	SUFU	ORPHA:2495
HP:0000135	Hypogonadism	51684	SUFU	ORPHA:377
HP:0000135	Hypogonadism	6605	SMARCE1	ORPHA:2495
HP:0000135	Hypogonadism	286	ANK1	ORPHA:251066
HP:0000135	Hypogonadism	7036	TFR2	OMIM:604250
HP:0000135	Hypogonadism	11128	POLR3A	ORPHA:447896
HP:0000135	Hypogonadism	11128	POLR3A	ORPHA:3455
HP:0000135	Hypogonadism	11128	POLR3A	OMIM:607694
HP:0000135	Hypogonadism	2736	GLI2	ORPHA:95494
HP:0000135	Hypogonadism	3170	FOXA2	ORPHA:95494
HP:0000135	Hypogonadism	5015	OTX2	ORPHA:95494
HP:0000135	Hypogonadism	190	NR0B1	OMIM:300200
HP:0000135	Hypogonadism	190	NR0B1	ORPHA:242
HP:0000135	Hypogonadism	3972	LHB	OMIM:228300
HP:0000135	Hypogonadism	59336	PRDM13	OMIM:619761
HP:0000135	Hypogonadism	81887	LAS1L	ORPHA:3459
HP:0000135	Hypogonadism	55869	HDAC8	ORPHA:3459
HP:0000135	Hypogonadism	5373	PMM2	ORPHA:79318
HP:0000135	Hypogonadism	5727	PTCH1	ORPHA:377
HP:0000135	Hypogonadism	8643	PTCH2	ORPHA:377
HP:0000135	Hypogonadism	2706	GJB2	ORPHA:494
HP:0000135	Hypogonadism	5122	PCSK1	OMIM:600955
HP:0000135	Hypogonadism	22930	RAB3GAP1	ORPHA:1387
HP:0000135	Hypogonadism	22930	RAB3GAP1	OMIM:619420
HP:0000135	Hypogonadism	654	BMP6	ORPHA:465508
HP:0000135	Hypogonadism	22800	RRAS2	ORPHA:648
HP:0000135	Hypogonadism	867	CBL	ORPHA:648
HP:0000135	Hypogonadism	8216	LZTR1	ORPHA:648
HP:0000135	Hypogonadism	6016	RIT1	ORPHA:648
HP:0000135	Hypogonadism	6237	RRAS	ORPHA:648
HP:0000135	Hypogonadism	5894	RAF1	ORPHA:648
HP:0000135	Hypogonadism	22808	MRAS	ORPHA:648
HP:0000135	Hypogonadism	3845	KRAS	ORPHA:648
HP:0000135	Hypogonadism	200734	SPRED2	ORPHA:648
HP:0000135	Hypogonadism	4893	NRAS	ORPHA:648
HP:0000135	Hypogonadism	6654	SOS1	ORPHA:648
HP:0000135	Hypogonadism	6655	SOS2	ORPHA:648
HP:0000135	Hypogonadism	5781	PTPN11	ORPHA:648
HP:0000135	Hypogonadism	5922	RASA2	ORPHA:648
HP:0000135	Hypogonadism	3730	ANOS1	OMIM:308700
HP:0000135	Hypogonadism	3730	ANOS1	ORPHA:478
HP:0000135	Hypogonadism	1761	DMRT1	ORPHA:242
HP:0000135	Hypogonadism	6662	SOX9	ORPHA:242
HP:0000135	Hypogonadism	84733	CBX2	ORPHA:242
HP:0000135	Hypogonadism	50846	DHH	ORPHA:242
HP:0000135	Hypogonadism	4214	MAP3K1	ORPHA:242
HP:0000135	Hypogonadism	2516	NR5A1	ORPHA:242
HP:0000135	Hypogonadism	7490	WT1	ORPHA:242
HP:0000135	Hypogonadism	57647	DHX37	ORPHA:242
HP:0000135	Hypogonadism	6736	SRY	ORPHA:242
HP:0000135	Hypogonadism	80067	DCAF17	OMIM:241080
HP:0000135	Hypogonadism	10371	SEMA3A	ORPHA:478
HP:0000135	Hypogonadism	23767	FLRT3	ORPHA:478
HP:0000135	Hypogonadism	79625	NDNF	ORPHA:478
HP:0000135	Hypogonadism	54756	IL17RD	ORPHA:478
HP:0000135	Hypogonadism	6663	SOX10	ORPHA:478
HP:0000135	Hypogonadism	6658	SOX3	ORPHA:90695
HP:0000135	Hypogonadism	4000	LMNA	ORPHA:740
HP:0000135	Hypogonadism	10269	ZMPSTE24	ORPHA:740
HP:0000135	Hypogonadism	472	ATM	OMIM:208900
HP:0000135	Hypogonadism	652	BMP4	OMIM:607932
HP:0000135	Hypogonadism	5618	PRLR	ORPHA:397685
HP:0000135	Hypogonadism	326	AIRE	OMIM:240300
HP:0000135	Hypogonadism	3479	IGF1	ORPHA:73272
HP:0000135	Hypogonadism	5573	PRKAR1A	ORPHA:950
HP:0000135	Hypogonadism	5573	PRKAR1A	OMIM:101800
HP:0000135	Hypogonadism	5573	PRKAR1A	ORPHA:280651
HP:0000135	Hypogonadism	5144	PDE4D	ORPHA:950
HP:0000135	Hypogonadism	5144	PDE4D	ORPHA:280651
HP:0000135	Hypogonadism	27183	VPS4A	OMIM:619273
HP:0000135	Hypogonadism	8450	CUL4B	OMIM:300354
HP:0000135	Hypogonadism	8450	CUL4B	ORPHA:85293
HP:0000135	Hypogonadism	92840	REEP6	ORPHA:791
HP:0000135	Hypogonadism	6094	ROM1	ORPHA:791
HP:0000135	Hypogonadism	6017	RLBP1	ORPHA:791
HP:0000135	Hypogonadism	7401	CLRN1	ORPHA:791
HP:0000135	Hypogonadism	24	ABCA4	ORPHA:791
HP:0000135	Hypogonadism	130557	ZNF513	ORPHA:791
HP:0000135	Hypogonadism	582	BBS1	ORPHA:791
HP:0000135	Hypogonadism	582	BBS1	OMIM:209900
HP:0000135	Hypogonadism	582	BBS1	ORPHA:110
HP:0000135	Hypogonadism	92211	CDHR1	ORPHA:791
HP:0000135	Hypogonadism	23568	ARL2BP	ORPHA:791
HP:0000135	Hypogonadism	6121	RPE65	ORPHA:791
HP:0000135	Hypogonadism	54806	AHI1	ORPHA:791
HP:0000135	Hypogonadism	6101	RP1	ORPHA:791
HP:0000135	Hypogonadism	3419	IDH3A	ORPHA:791
HP:0000135	Hypogonadism	4751	NEK2	ORPHA:791
HP:0000135	Hypogonadism	346007	EYS	ORPHA:791
HP:0000135	Hypogonadism	8100	IFT88	ORPHA:791
HP:0000135	Hypogonadism	23020	SNRNP200	ORPHA:791
HP:0000135	Hypogonadism	762	CA4	ORPHA:791
HP:0000135	Hypogonadism	138050	HGSNAT	ORPHA:791
HP:0000135	Hypogonadism	196	AHR	ORPHA:791
HP:0000135	Hypogonadism	3614	IMPDH1	ORPHA:791
HP:0000135	Hypogonadism	123016	TTC8	ORPHA:791
HP:0000135	Hypogonadism	123016	TTC8	ORPHA:110
HP:0000135	Hypogonadism	123016	TTC8	OMIM:615985
HP:0000135	Hypogonadism	6103	RPGR	ORPHA:791
HP:0000135	Hypogonadism	1406	CRX	ORPHA:791
HP:0000135	Hypogonadism	5148	PDE6G	ORPHA:791
HP:0000135	Hypogonadism	26121	PRPF31	ORPHA:791
HP:0000135	Hypogonadism	583	BBS2	ORPHA:791
HP:0000135	Hypogonadism	583	BBS2	ORPHA:110
HP:0000135	Hypogonadism	583	BBS2	OMIM:615981
HP:0000135	Hypogonadism	4117	MAK	ORPHA:791
HP:0000135	Hypogonadism	25794	FSCN2	ORPHA:791
HP:0000135	Hypogonadism	375298	CERKL	ORPHA:791
HP:0000135	Hypogonadism	3420	IDH3B	ORPHA:791
HP:0000135	Hypogonadism	57670	KIAA1549	ORPHA:791
HP:0000135	Hypogonadism	7275	TUB	ORPHA:791
HP:0000135	Hypogonadism	24148	PRPF6	ORPHA:791
HP:0000135	Hypogonadism	23418	CRB1	ORPHA:791
HP:0000135	Hypogonadism	10461	MERTK	ORPHA:791
HP:0000135	Hypogonadism	57709	SLC7A14	ORPHA:791
HP:0000135	Hypogonadism	768206	PRCD	ORPHA:791
HP:0000135	Hypogonadism	7399	USH2A	ORPHA:791
HP:0000135	Hypogonadism	23370	ARHGEF18	ORPHA:791
HP:0000135	Hypogonadism	5949	RBP3	ORPHA:791
HP:0000135	Hypogonadism	6010	RHO	ORPHA:791
HP:0000135	Hypogonadism	6100	RP9	ORPHA:791
HP:0000135	Hypogonadism	10002	NR2E3	ORPHA:791
HP:0000135	Hypogonadism	9227	LRAT	ORPHA:791
HP:0000135	Hypogonadism	84140	FAM161A	ORPHA:791
HP:0000135	Hypogonadism	55812	SPATA7	ORPHA:791
HP:0000135	Hypogonadism	55624	POMGNT1	ORPHA:791
HP:0000135	Hypogonadism	79797	ZNF408	ORPHA:791
HP:0000135	Hypogonadism	403	ARL3	ORPHA:791
HP:0000135	Hypogonadism	5145	PDE6A	ORPHA:791
HP:0000135	Hypogonadism	10210	TOPORS	ORPHA:791
HP:0000135	Hypogonadism	8842	PROM1	ORPHA:791
HP:0000135	Hypogonadism	9128	PRPF4	ORPHA:791
HP:0000135	Hypogonadism	145226	RDH12	ORPHA:791
HP:0000135	Hypogonadism	50939	IMPG2	ORPHA:791
HP:0000135	Hypogonadism	8481	OFD1	ORPHA:791
HP:0000135	Hypogonadism	49855	SCAPER	ORPHA:791
HP:0000135	Hypogonadism	49855	SCAPER	ORPHA:110
HP:0000135	Hypogonadism	9742	IFT140	ORPHA:791
HP:0000135	Hypogonadism	2979	GUCA1B	ORPHA:791
HP:0000135	Hypogonadism	1259	CNGA1	ORPHA:791
HP:0000135	Hypogonadism	1258	CNGB1	ORPHA:791
HP:0000135	Hypogonadism	60509	AGBL5	ORPHA:791
HP:0000135	Hypogonadism	5961	PRPH2	ORPHA:791
HP:0000135	Hypogonadism	388939	PCARE	ORPHA:791
HP:0000135	Hypogonadism	7439	BEST1	ORPHA:791
HP:0000135	Hypogonadism	9785	DHX38	ORPHA:791
HP:0000135	Hypogonadism	7287	TULP1	ORPHA:791
HP:0000135	Hypogonadism	5995	RGR	ORPHA:791
HP:0000135	Hypogonadism	9129	PRPF3	ORPHA:791
HP:0000135	Hypogonadism	55975	KLHL7	ORPHA:791
HP:0000135	Hypogonadism	3617	IMPG1	ORPHA:791
HP:0000135	Hypogonadism	94137	RP1L1	ORPHA:791
HP:0000135	Hypogonadism	5158	PDE6B	ORPHA:791
HP:0000135	Hypogonadism	6102	RP2	ORPHA:791
HP:0000135	Hypogonadism	55857	KIZ	ORPHA:791
HP:0000135	Hypogonadism	64218	SEMA4A	ORPHA:791
HP:0000135	Hypogonadism	4901	NRL	ORPHA:791
HP:0000135	Hypogonadism	157657	CFAP418	ORPHA:791
HP:0000135	Hypogonadism	157657	CFAP418	ORPHA:110
HP:0000135	Hypogonadism	10594	PRPF8	ORPHA:791
HP:0000135	Hypogonadism	84100	ARL6	ORPHA:791
HP:0000135	Hypogonadism	84100	ARL6	OMIM:209900
HP:0000135	Hypogonadism	84100	ARL6	ORPHA:110
HP:0000135	Hypogonadism	6295	SAG	ORPHA:791
HP:0000135	Hypogonadism	79947	DHDDS	ORPHA:791
HP:0000135	Hypogonadism	83932	SPRTN	OMIM:616200
HP:0000135	Hypogonadism	11020	IFT27	OMIM:615996
HP:0000135	Hypogonadism	11020	IFT27	ORPHA:110
HP:0000135	Hypogonadism	55240	STEAP3	OMIM:615234
HP:0000135	Hypogonadism	55240	STEAP3	ORPHA:300298
HP:0000135	Hypogonadism	10806	SDCCAG8	OMIM:615993
HP:0000135	Hypogonadism	10806	SDCCAG8	ORPHA:110
HP:0000135	Hypogonadism	54585	LZTFL1	OMIM:615994
HP:0000135	Hypogonadism	54585	LZTFL1	ORPHA:110
HP:0000135	Hypogonadism	9401	RECQL4	OMIM:268400
HP:0000135	Hypogonadism	7555	CNBP	OMIM:602668
HP:0000135	Hypogonadism	9342	SNAP29	ORPHA:66631
HP:0000135	Hypogonadism	10273	STUB1	OMIM:615768
HP:0000135	Hypogonadism	10273	STUB1	ORPHA:412057
HP:0000135	Hypogonadism	7486	WRN	OMIM:277700
HP:0000135	Hypogonadism	7486	WRN	ORPHA:902
HP:0000135	Hypogonadism	5818	NECTIN1	ORPHA:3253
HP:0000135	Hypogonadism	1760	DMPK	OMIM:160900
HP:0000135	Hypogonadism	10059	DNM1L	ORPHA:98673
HP:0000135	Hypogonadism	4976	OPA1	ORPHA:98673
HP:0000135	Hypogonadism	2068	ERCC2	ORPHA:1466
HP:0000135	Hypogonadism	2068	ERCC2	OMIM:601675
HP:0000135	Hypogonadism	2068	ERCC2	ORPHA:910
HP:0000135	Hypogonadism	2073	ERCC5	ORPHA:1466
HP:0000135	Hypogonadism	2073	ERCC5	ORPHA:910
HP:0000135	Hypogonadism	412	STS	ORPHA:281090
HP:0000135	Hypogonadism	79140	CCDC28B	OMIM:209900
HP:0000135	Hypogonadism	26146	TRAF3IP1	OMIM:616629
HP:0000135	Hypogonadism	672	BRCA1	ORPHA:84
HP:0000135	Hypogonadism	10459	MAD2L2	ORPHA:84
HP:0000135	Hypogonadism	7516	XRCC2	ORPHA:84
HP:0000135	Hypogonadism	29089	UBE2T	ORPHA:84
HP:0000135	Hypogonadism	675	BRCA2	ORPHA:84
HP:0000135	Hypogonadism	55120	FANCL	ORPHA:84
HP:0000135	Hypogonadism	2188	FANCF	ORPHA:84
HP:0000135	Hypogonadism	2189	FANCG	ORPHA:84
HP:0000135	Hypogonadism	5889	RAD51C	ORPHA:84
HP:0000135	Hypogonadism	55159	RFWD3	ORPHA:84
HP:0000135	Hypogonadism	83990	BRIP1	ORPHA:84
HP:0000135	Hypogonadism	57697	FANCM	ORPHA:84
HP:0000135	Hypogonadism	79728	PALB2	ORPHA:84
HP:0000135	Hypogonadism	84464	SLX4	ORPHA:84
HP:0000135	Hypogonadism	55215	FANCI	ORPHA:84
HP:0000135	Hypogonadism	55630	SLC39A4	OMIM:201100
HP:0000135	Hypogonadism	617	BCS1L	OMIM:262000
HP:0000135	Hypogonadism	617	BCS1L	ORPHA:123
HP:0000135	Hypogonadism	2071	ERCC3	OMIM:610651
HP:0000135	Hypogonadism	2071	ERCC3	ORPHA:910
HP:0000135	Hypogonadism	26227	PHGDH	ORPHA:79351
HP:0000135	Hypogonadism	57817	HAMP	ORPHA:79230
HP:0000135	Hypogonadism	57817	HAMP	OMIM:613313
HP:0000135	Hypogonadism	51763	INPP5K	ORPHA:559
HP:0000135	Hypogonadism	92482	BBIP1	ORPHA:110
HP:0000135	Hypogonadism	80184	CEP290	ORPHA:110
HP:0000135	Hypogonadism	4867	NPHP1	ORPHA:110
HP:0000135	Hypogonadism	51057	WDPCP	ORPHA:110
HP:0000135	Hypogonadism	27241	BBS9	ORPHA:110
HP:0000135	Hypogonadism	84984	CEP19	ORPHA:110
HP:0000135	Hypogonadism	22954	TRIM32	ORPHA:110
HP:0000135	Hypogonadism	22954	TRIM32	OMIM:615988
HP:0000135	Hypogonadism	54903	MKS1	ORPHA:110
HP:0000135	Hypogonadism	79738	BBS10	ORPHA:110
HP:0000135	Hypogonadism	79738	BBS10	OMIM:615987
HP:0000135	Hypogonadism	585	BBS4	ORPHA:110
HP:0000135	Hypogonadism	585	BBS4	OMIM:615982
HP:0000135	Hypogonadism	8195	MKKS	ORPHA:110
HP:0000135	Hypogonadism	55212	BBS7	ORPHA:110
HP:0000135	Hypogonadism	55212	BBS7	OMIM:615984
HP:0000135	Hypogonadism	166379	BBS12	ORPHA:110
HP:0000135	Hypogonadism	166379	BBS12	OMIM:615989
HP:0000135	Hypogonadism	129880	BBS5	ORPHA:110
HP:0000135	Hypogonadism	129880	BBS5	OMIM:615983
HP:0000135	Hypogonadism	80173	IFT74	ORPHA:110
HP:0000135	Hypogonadism	80173	IFT74	OMIM:617119
HP:0000135	Hypogonadism	7874	USP7	ORPHA:500055
HP:0000135	Hypogonadism	8879	SGPL1	OMIM:617575
HP:0000135	Hypogonadism	9791	PTDSS1	ORPHA:2658
HP:0000135	Hypogonadism	367	AR	OMIM:312300
HP:0000135	Hypogonadism	5189	PEX1	ORPHA:3220
HP:0000135	Hypogonadism	5190	PEX6	ORPHA:3220
HP:0000135	Hypogonadism	5590	PRKCZ	ORPHA:1606
HP:0000135	Hypogonadism	2563	GABRD	ORPHA:1606
HP:0000135	Hypogonadism	23013	SPEN	ORPHA:1606
HP:0000135	Hypogonadism	8510	MMP23B	ORPHA:1606
HP:0000135	Hypogonadism	7798	LUZP1	ORPHA:1606
HP:0000135	Hypogonadism	6497	SKI	ORPHA:1606
HP:0000135	Hypogonadism	10630	PDPN	ORPHA:1606
HP:0000135	Hypogonadism	3339	HSPG2	ORPHA:1606
HP:0000135	Hypogonadism	10277	UBE4B	ORPHA:1606
HP:0000135	Hypogonadism	8514	KCNAB2	ORPHA:1606
HP:0000135	Hypogonadism	473	RERE	ORPHA:1606
HP:0000135	Hypogonadism	63976	PRDM16	ORPHA:1606
HP:0000135	Hypogonadism	54897	CASZ1	ORPHA:1606
HP:0000135	Hypogonadism	7040	TGFB1	ORPHA:1328
HP:0000135	Hypogonadism	3043	HBB	ORPHA:231222
HP:0000135	Hypogonadism	51124	IER3IP1	OMIM:614231
HP:0000135	Hypogonadism	1028	CDKN1C	ORPHA:85173
HP:0000135	Hypogonadism	5426	POLE	ORPHA:85173
HP:0000135	Hypogonadism	5495	PPM1B	ORPHA:163693
HP:0000135	Hypogonadism	6519	SLC3A1	ORPHA:163693
HP:0000135	Hypogonadism	9581	PREPL	ORPHA:163693
HP:0000135	Hypogonadism	79823	CAMKMT	ORPHA:163693
HP:0000135	Hypogonadism	415	ARSL	OMIM:302950
HP:0000135	Hypogonadism	2332	FMR1	ORPHA:261483
HP:0000135	Hypogonadism	4193	MDM2	OMIM:618681
HP:0000135	Hypogonadism	7157	TP53	OMIM:618165
HP:0000135	Hypogonadism	546	ATRX	OMIM:309580
HP:0000135	Hypogonadism	4621	MYH3	ORPHA:2990
HP:0000135	Hypogonadism	1146	CHRNG	ORPHA:2990
HP:0000135	Hypogonadism	84295	PHF6	ORPHA:127
HP:0000135	Hypogonadism	60529	ALX4	ORPHA:228390
HP:0000135	Hypogonadism	84168	ANTXR1	ORPHA:2067
HP:0000135	Hypogonadism	56052	ALG1	OMIM:608540
HP:0000135	Hypogonadism	5604	MAP2K1	OMIM:163950
HP:0000135	Hypogonadism	4089	SMAD4	ORPHA:2588
HP:0000135	Hypogonadism	7507	XPA	ORPHA:910
HP:0000135	Hypogonadism	7508	XPC	ORPHA:910
HP:0000135	Hypogonadism	1643	DDB2	ORPHA:910
HP:0000135	Hypogonadism	64374	SIL1	OMIM:248800
HP:0000135	Hypogonadism	7840	ALMS1	ORPHA:64
HP:0000135	Hypogonadism	7840	ALMS1	OMIM:203800
HP:0000135	Hypogonadism	54809	SAMD9	OMIM:617053
HP:0000135	Hypogonadism	9210	BMP15	OMIM:300510
HP:0000135	Hypogonadism	2187	FANCB	OMIM:300514
HP:0000135	Hypogonadism	4361	MRE11	ORPHA:251347
HP:0000135	Hypogonadism	2592	GALT	OMIM:230400
HP:0000135	Hypogonadism	23600	AMACR	OMIM:614307
HP:0000135	Hypogonadism	4047	LSS	ORPHA:2850
HP:0000135	Hypogonadism	197	AHSG	ORPHA:2850
HP:0000135	Hypogonadism	3694	ITGB6	ORPHA:2850
HP:0000135	Hypogonadism	3973	LHCGR	OMIM:238320
HP:0000135	Hypogonadism	92667	MGME1	ORPHA:352447
HP:0000135	Hypogonadism	92667	MGME1	OMIM:615084
HP:0000135	Hypogonadism	55315	SLC29A3	OMIM:602782
HP:0000135	Hypogonadism	26137	ZBTB20	OMIM:259050
HP:0000135	Hypogonadism	54453	RIN2	ORPHA:217335
HP:0000135	Hypogonadism	54453	RIN2	OMIM:613075
HP:0000135	Hypogonadism	9533	POLR1C	ORPHA:88637
HP:0000135	Hypogonadism	8878	SQSTM1	OMIM:617145
HP:0000135	Hypogonadism	2175	FANCA	OMIM:227650
HP:0000135	Hypogonadism	57122	NUP107	OMIM:618078
HP:0000135	Hypogonadism	1528	CYB5A	ORPHA:90796
HP:0000135	Hypogonadism	1586	CYP17A1	ORPHA:90796
HP:0000135	Hypogonadism	56652	TWNK	OMIM:616138
HP:0000135	Hypogonadism	56652	TWNK	OMIM:271245
HP:0000135	Hypogonadism	3952	LEP	ORPHA:66628
HP:0000135	Hypogonadism	1588	CYP19A1	OMIM:613546
HP:0000135	Hypogonadism	1588	CYP19A1	ORPHA:91
HP:0000135	Hypogonadism	668	FOXL2	ORPHA:572333
HP:0000135	Hypogonadism	2177	FANCD2	OMIM:227646
HP:0000135	Hypogonadism	27235	COQ2	OMIM:607426
HP:0000135	Hypogonadism	2176	FANCC	OMIM:227645
HP:0000135	Hypogonadism	51081	MRPS7	OMIM:617872
HP:0000135	Hypogonadism	9692	PRORP	OMIM:619737
HP:0000135	Hypogonadism	8192	CLPP	OMIM:614129
HP:0000135	Hypogonadism	3953	LEPR	OMIM:614963
HP:0000135	Hypogonadism	3953	LEPR	ORPHA:179494
HP:0000135	Hypogonadism	79184	BRCC3	ORPHA:280679
HP:0000135	Hypogonadism	2778	GNAS	ORPHA:79443
HP:0000135	Hypogonadism	2778	GNAS	ORPHA:79444
HP:0000135	Hypogonadism	658	BMPR1B	OMIM:609441
HP:0000135	Hypogonadism	2178	FANCE	OMIM:600901
HP:0000135	Hypogonadism	6845	VAMP7	ORPHA:251510
HP:0000135	Hypogonadism	51741	WWOX	ORPHA:251510
HP:0000135	Hypogonadism	58524	DMRT3	ORPHA:251510
HP:0000135	Hypogonadism	23414	ZFPM2	ORPHA:251510
HP:0000135	Hypogonadism	2626	GATA4	ORPHA:251510
HP:0000135	Hypogonadism	6342	SCP2	OMIM:613724
HP:0000135	Hypogonadism	2584	GALK1	ORPHA:79237
HP:0000136	Bifid uterus	6299	SALL1	OMIM:107480
HP:0000136	Bifid uterus	219844	HYLS1	OMIM:236680
HP:0000136	Bifid uterus	51339	DACT1	OMIM:617466
HP:0000136	Bifid uterus	26227	PHGDH	OMIM:256520
HP:0000137	Abnormality of the ovary	4609	MYC	ORPHA:543
HP:0000137	Abnormality of the ovary	54361	WNT4	ORPHA:247768
HP:0000137	Abnormality of the ovary	84100	ARL6	OMIM:209900
HP:0000137	Abnormality of the ovary	79140	CCDC28B	OMIM:209900
HP:0000137	Abnormality of the ovary	582	BBS1	OMIM:209900
HP:0000137	Abnormality of the ovary	5340	PLG	ORPHA:722
HP:0000137	Abnormality of the ovary	5295	PIK3R1	OMIM:269880
HP:0000137	Abnormality of the ovary	4913	NTHL1	ORPHA:454840
HP:0000137	Abnormality of the ovary	3643	INSR	OMIM:246200
HP:0000137	Abnormality of the ovary	55503	TRPV6	OMIM:618188
HP:0000137	Abnormality of the ovary	2155	F7	ORPHA:327
HP:0000137	Abnormality of the ovary	2778	GNAS	ORPHA:562
HP:0000137	Abnormality of the ovary	6899	TBX1	OMIM:188400
HP:0000137	Abnormality of the ovary	3972	LHB	OMIM:228300
HP:0000137	Abnormality of the ovary	4437	MSH3	OMIM:617100
HP:0000137	Abnormality of the ovary	8481	OFD1	OMIM:311200
HP:0000137	Abnormality of the ovary	7840	ALMS1	ORPHA:64
HP:0000137	Abnormality of the ovary	6658	SOX3	ORPHA:393
HP:0000137	Abnormality of the ovary	26580	BSCL2	OMIM:269700
HP:0000137	Abnormality of the ovary	26580	BSCL2	ORPHA:528
HP:0000137	Abnormality of the ovary	3991	LIPE	ORPHA:435660
HP:0000137	Abnormality of the ovary	4519	MT-CYB	ORPHA:137675
HP:0000137	Abnormality of the ovary	2321	FLT1	ORPHA:275555
HP:0000137	Abnormality of the ovary	219736	STOX1	ORPHA:275555
HP:0000137	Abnormality of the ovary	10699	CORIN	ORPHA:275555
HP:0000137	Abnormality of the ovary	6804	STX1A	ORPHA:904
HP:0000137	Abnormality of the ovary	7461	CLIP2	ORPHA:904
HP:0000137	Abnormality of the ovary	84277	DNAJC30	ORPHA:904
HP:0000137	Abnormality of the ovary	8468	FKBP6	ORPHA:904
HP:0000137	Abnormality of the ovary	5982	RFC2	ORPHA:904
HP:0000137	Abnormality of the ovary	2969	GTF2I	ORPHA:904
HP:0000137	Abnormality of the ovary	3984	LIMK1	ORPHA:904
HP:0000137	Abnormality of the ovary	9569	GTF2IRD1	ORPHA:904
HP:0000137	Abnormality of the ovary	155382	VPS37D	ORPHA:904
HP:0000137	Abnormality of the ovary	155368	METTL27	ORPHA:904
HP:0000137	Abnormality of the ovary	114049	BUD23	ORPHA:904
HP:0000137	Abnormality of the ovary	7458	EIF4H	ORPHA:904
HP:0000137	Abnormality of the ovary	84163	GTF2IRD2	ORPHA:904
HP:0000137	Abnormality of the ovary	9275	BCL7B	ORPHA:904
HP:0000137	Abnormality of the ovary	26608	TBL2	ORPHA:904
HP:0000137	Abnormality of the ovary	653361	NCF1	ORPHA:904
HP:0000137	Abnormality of the ovary	135886	TMEM270	ORPHA:904
HP:0000137	Abnormality of the ovary	51085	MLXIPL	ORPHA:904
HP:0000137	Abnormality of the ovary	9031	BAZ1B	ORPHA:904
HP:0000137	Abnormality of the ovary	2006	ELN	ORPHA:904
HP:0000137	Abnormality of the ovary	118429	ANTXR2	ORPHA:2176
HP:0000137	Abnormality of the ovary	472	ATM	ORPHA:100
HP:0000137	Abnormality of the ovary	5346	PLIN1	ORPHA:280356
HP:0000137	Abnormality of the ovary	5468	PPARG	OMIM:604367
HP:0000137	Abnormality of the ovary	5468	PPARG	ORPHA:79083
HP:0000137	Abnormality of the ovary	5468	PPARG	ORPHA:528
HP:0000137	Abnormality of the ovary	63924	CIDEC	ORPHA:435651
HP:0000137	Abnormality of the ovary	6927	HNF1A	OMIM:142330
HP:0000137	Abnormality of the ovary	2542	SLC37A4	ORPHA:79259
HP:0000137	Abnormality of the ovary	1584	CYP11B1	ORPHA:90795
HP:0000137	Abnormality of the ovary	208	AKT2	ORPHA:79085
HP:0000137	Abnormality of the ovary	5257	PHKB	ORPHA:79240
HP:0000137	Abnormality of the ovary	10555	AGPAT2	ORPHA:528
HP:0000137	Abnormality of the ovary	10555	AGPAT2	OMIM:608594
HP:0000137	Abnormality of the ovary	284119	CAVIN1	ORPHA:528
HP:0000137	Abnormality of the ovary	2353	FOS	ORPHA:528
HP:0000137	Abnormality of the ovary	857	CAV1	ORPHA:528
HP:0000137	Abnormality of the ovary	4313	MMP2	ORPHA:371428
HP:0000137	Abnormality of the ovary	4323	MMP14	ORPHA:371428
HP:0000137	Abnormality of the ovary	1761	DMRT1	ORPHA:242
HP:0000137	Abnormality of the ovary	84733	CBX2	ORPHA:242
HP:0000137	Abnormality of the ovary	5256	PHKA2	ORPHA:264580
HP:0000137	Abnormality of the ovary	5261	PHKG2	ORPHA:264580
HP:0000137	Abnormality of the ovary	24145	PANX1	ORPHA:488191
HP:0000137	Abnormality of the ovary	494551	WEE2	ORPHA:488191
HP:0000137	Abnormality of the ovary	197135	PATL2	ORPHA:488191
HP:0000137	Abnormality of the ovary	347688	TUBB8	ORPHA:488191
HP:0000137	Abnormality of the ovary	84823	LMNB2	OMIM:608709
HP:0000137	Abnormality of the ovary	29072	SETD2	OMIM:616831
HP:0000137	Abnormality of the ovary	4487	MSX1	ORPHA:2228
HP:0000137	Abnormality of the ovary	1528	CYB5A	ORPHA:90796
HP:0000137	Abnormality of the ovary	1586	CYP17A1	ORPHA:90796
HP:0000137	Abnormality of the ovary	2099	ESR1	ORPHA:785
HP:0000137	Abnormality of the ovary	10483	SEC23B	ORPHA:201
HP:0000137	Abnormality of the ovary	5728	PTEN	ORPHA:201
HP:0000137	Abnormality of the ovary	5728	PTEN	ORPHA:744
HP:0000137	Abnormality of the ovary	6390	SDHB	ORPHA:201
HP:0000137	Abnormality of the ovary	6392	SDHD	ORPHA:201
HP:0000137	Abnormality of the ovary	6391	SDHC	ORPHA:201
HP:0000137	Abnormality of the ovary	205717	USF3	ORPHA:201
HP:0000137	Abnormality of the ovary	100144748	KLLN	ORPHA:201
HP:0000137	Abnormality of the ovary	6794	STK11	ORPHA:2869
HP:0000137	Abnormality of the ovary	1588	CYP19A1	ORPHA:91
HP:0000137	Abnormality of the ovary	5447	POR	ORPHA:95699
HP:0000137	Abnormality of the ovary	79796	ALG9	ORPHA:79328
HP:0000137	Abnormality of the ovary	2260	FGFR1	ORPHA:432
HP:0000137	Abnormality of the ovary	81848	SPRY4	ORPHA:432
HP:0000137	Abnormality of the ovary	128674	PROKR2	ORPHA:432
HP:0000137	Abnormality of the ovary	2253	FGF8	ORPHA:432
HP:0000137	Abnormality of the ovary	60675	PROK2	ORPHA:432
HP:0000137	Abnormality of the ovary	55636	CHD7	ORPHA:432
HP:0000137	Abnormality of the ovary	6870	TACR3	ORPHA:432
HP:0000137	Abnormality of the ovary	1848	DUSP6	ORPHA:432
HP:0000137	Abnormality of the ovary	26012	NSMF	ORPHA:432
HP:0000137	Abnormality of the ovary	55717	WDR11	ORPHA:432
HP:0000137	Abnormality of the ovary	9394	HS6ST1	ORPHA:432
HP:0000137	Abnormality of the ovary	2796	GNRH1	ORPHA:432
HP:0000137	Abnormality of the ovary	2796	GNRH1	OMIM:614841
HP:0000137	Abnormality of the ovary	2798	GNRHR	ORPHA:432
HP:0000137	Abnormality of the ovary	84634	KISS1R	ORPHA:432
HP:0000137	Abnormality of the ovary	6866	TAC3	ORPHA:432
HP:0000137	Abnormality of the ovary	8822	FGF17	ORPHA:432
HP:0000137	Abnormality of the ovary	3814	KISS1	ORPHA:432
HP:0000137	Abnormality of the ovary	92482	BBIP1	ORPHA:110
HP:0000137	Abnormality of the ovary	80184	CEP290	ORPHA:110
HP:0000137	Abnormality of the ovary	11020	IFT27	ORPHA:110
HP:0000137	Abnormality of the ovary	49855	SCAPER	ORPHA:110
HP:0000137	Abnormality of the ovary	4867	NPHP1	ORPHA:110
HP:0000137	Abnormality of the ovary	51057	WDPCP	ORPHA:110
HP:0000137	Abnormality of the ovary	27241	BBS9	ORPHA:110
HP:0000137	Abnormality of the ovary	84984	CEP19	ORPHA:110
HP:0000137	Abnormality of the ovary	22954	TRIM32	ORPHA:110
HP:0000137	Abnormality of the ovary	54903	MKS1	ORPHA:110
HP:0000137	Abnormality of the ovary	79738	BBS10	ORPHA:110
HP:0000137	Abnormality of the ovary	123016	TTC8	ORPHA:110
HP:0000137	Abnormality of the ovary	26160	IFT172	ORPHA:110
HP:0000137	Abnormality of the ovary	583	BBS2	ORPHA:110
HP:0000137	Abnormality of the ovary	585	BBS4	ORPHA:110
HP:0000137	Abnormality of the ovary	8195	MKKS	ORPHA:110
HP:0000137	Abnormality of the ovary	54585	LZTFL1	ORPHA:110
HP:0000137	Abnormality of the ovary	55212	BBS7	ORPHA:110
HP:0000137	Abnormality of the ovary	166379	BBS12	ORPHA:110
HP:0000137	Abnormality of the ovary	10806	SDCCAG8	ORPHA:110
HP:0000137	Abnormality of the ovary	157657	CFAP418	ORPHA:110
HP:0000137	Abnormality of the ovary	129880	BBS5	ORPHA:110
HP:0000137	Abnormality of the ovary	80173	IFT74	ORPHA:110
HP:0000137	Abnormality of the ovary	317761	C14orf39	OMIM:619203
HP:0000137	Abnormality of the ovary	79625	NDNF	OMIM:618841
HP:0000137	Abnormality of the ovary	8882	ZPR1	OMIM:619321
HP:0000137	Abnormality of the ovary	23395	LARS2	OMIM:615300
HP:0000137	Abnormality of the ovary	164045	HFM1	OMIM:615724
HP:0000137	Abnormality of the ovary	84515	MCM8	OMIM:612885
HP:0000137	Abnormality of the ovary	3953	LEPR	ORPHA:179494
HP:0000137	Abnormality of the ovary	3952	LEP	ORPHA:66628
HP:0000137	Abnormality of the ovary	367	AR	ORPHA:90797
HP:0000137	Abnormality of the ovary	5373	PMM2	ORPHA:79318
HP:0000137	Abnormality of the ovary	8626	TP63	ORPHA:69085
HP:0000137	Abnormality of the ovary	5781	PTPN11	OMIM:151100
HP:0000137	Abnormality of the ovary	29893	PSMC3IP	ORPHA:243
HP:0000137	Abnormality of the ovary	171568	POLR3H	ORPHA:243
HP:0000137	Abnormality of the ovary	2516	NR5A1	ORPHA:243
HP:0000137	Abnormality of the ovary	2516	NR5A1	ORPHA:251510
HP:0000137	Abnormality of the ovary	125150	ZSWIM7	ORPHA:243
HP:0000137	Abnormality of the ovary	125150	ZSWIM7	OMIM:619834
HP:0000137	Abnormality of the ovary	9210	BMP15	ORPHA:243
HP:0000137	Abnormality of the ovary	9210	BMP15	OMIM:300510
HP:0000137	Abnormality of the ovary	57122	NUP107	ORPHA:243
HP:0000137	Abnormality of the ovary	23514	SPIDR	ORPHA:243
HP:0000137	Abnormality of the ovary	2492	FSHR	ORPHA:243
HP:0000137	Abnormality of the ovary	56945	MRPS22	ORPHA:243
HP:0000137	Abnormality of the ovary	646	BNC1	ORPHA:243
HP:0000137	Abnormality of the ovary	26284	ERAL1	OMIM:617565
HP:0000137	Abnormality of the ovary	344018	FIGLA	OMIM:612310
HP:0000137	Abnormality of the ovary	6736	SRY	ORPHA:1772
HP:0000137	Abnormality of the ovary	6736	SRY	ORPHA:251510
HP:0000137	Abnormality of the ovary	4659	PPP1R12A	OMIM:618820
HP:0000137	Abnormality of the ovary	8192	CLPP	OMIM:614129
HP:0000137	Abnormality of the ovary	6662	SOX9	ORPHA:251510
HP:0000137	Abnormality of the ovary	6845	VAMP7	ORPHA:251510
HP:0000137	Abnormality of the ovary	51741	WWOX	ORPHA:251510
HP:0000137	Abnormality of the ovary	4214	MAP3K1	ORPHA:251510
HP:0000137	Abnormality of the ovary	7490	WT1	ORPHA:251510
HP:0000137	Abnormality of the ovary	7490	WT1	OMIM:194072
HP:0000137	Abnormality of the ovary	7490	WT1	ORPHA:347
HP:0000137	Abnormality of the ovary	58524	DMRT3	ORPHA:251510
HP:0000137	Abnormality of the ovary	57647	DHX37	ORPHA:251510
HP:0000137	Abnormality of the ovary	23414	ZFPM2	ORPHA:251510
HP:0000137	Abnormality of the ovary	190	NR0B1	ORPHA:251510
HP:0000137	Abnormality of the ovary	2626	GATA4	ORPHA:251510
HP:0000137	Abnormality of the ovary	10734	STAG3	OMIM:615723
HP:0000137	Abnormality of the ovary	23438	HARS2	OMIM:614926
HP:0000137	Abnormality of the ovary	80067	DCAF17	ORPHA:3464
HP:0000137	Abnormality of the ovary	135935	NOBOX	OMIM:611548
HP:0000137	Abnormality of the ovary	5080	PAX6	OMIM:194072
HP:0000137	Abnormality of the ovary	26040	SETBP1	ORPHA:798
HP:0000137	Abnormality of the ovary	668	FOXL2	ORPHA:572333
HP:0000137	Abnormality of the ovary	50846	DHH	OMIM:233420
HP:0000137	Abnormality of the ovary	50846	DHH	ORPHA:168563
HP:0000137	Abnormality of the ovary	5618	PRLR	ORPHA:397685
HP:0000137	Abnormality of the ovary	5290	PIK3CA	ORPHA:276280
HP:0000137	Abnormality of the ovary	5573	PRKAR1A	ORPHA:1359
HP:0000137	Abnormality of the ovary	50940	PDE11A	ORPHA:1359
HP:0000137	Abnormality of the ovary	672	BRCA1	ORPHA:1333
HP:0000137	Abnormality of the ovary	672	BRCA1	OMIM:617883
HP:0000137	Abnormality of the ovary	285282	RABL3	ORPHA:1333
HP:0000137	Abnormality of the ovary	7157	TP53	ORPHA:1333
HP:0000137	Abnormality of the ovary	675	BRCA2	ORPHA:1333
HP:0000137	Abnormality of the ovary	3845	KRAS	ORPHA:1333
HP:0000137	Abnormality of the ovary	1029	CDKN2A	ORPHA:1333
HP:0000137	Abnormality of the ovary	79728	PALB2	ORPHA:1333
HP:0000137	Abnormality of the ovary	4089	SMAD4	ORPHA:1333
HP:0000137	Abnormality of the ovary	23022	PALLD	ORPHA:1333
HP:0000137	Abnormality of the ovary	5889	RAD51C	OMIM:613399
HP:0000137	Abnormality of the ovary	5727	PTCH1	OMIM:109400
HP:0000137	Abnormality of the ovary	23405	DICER1	OMIM:180295
HP:0000137	Abnormality of the ovary	8930	MBD4	OMIM:619975
HP:0000137	Abnormality of the ovary	4292	MLH1	OMIM:158320
HP:0000137	Abnormality of the ovary	4292	MLH1	ORPHA:144
HP:0000137	Abnormality of the ovary	4436	MSH2	OMIM:158320
HP:0000137	Abnormality of the ovary	4436	MSH2	ORPHA:144
HP:0000137	Abnormality of the ovary	54894	RNF43	ORPHA:157798
HP:0000137	Abnormality of the ovary	7486	WRN	ORPHA:902
HP:0000137	Abnormality of the ovary	4193	MDM2	ORPHA:524
HP:0000137	Abnormality of the ovary	11200	CHEK2	ORPHA:524
HP:0000137	Abnormality of the ovary	11200	CHEK2	ORPHA:145
HP:0000137	Abnormality of the ovary	5892	RAD51D	ORPHA:145
HP:0000137	Abnormality of the ovary	10111	RAD50	ORPHA:145
HP:0000137	Abnormality of the ovary	580	BARD1	ORPHA:145
HP:0000137	Abnormality of the ovary	5888	RAD51	ORPHA:145
HP:0000137	Abnormality of the ovary	4683	NBN	ORPHA:145
HP:0000137	Abnormality of the ovary	83990	BRIP1	ORPHA:145
HP:0000137	Abnormality of the ovary	4361	MRE11	ORPHA:145
HP:0000137	Abnormality of the ovary	4072	EPCAM	ORPHA:144
HP:0000137	Abnormality of the ovary	5395	PMS2	ORPHA:144
HP:0000137	Abnormality of the ovary	5395	PMS2	OMIM:614337
HP:0000137	Abnormality of the ovary	27030	MLH3	ORPHA:144
HP:0000137	Abnormality of the ovary	22909	FAN1	ORPHA:144
HP:0000137	Abnormality of the ovary	7048	TGFBR2	ORPHA:144
HP:0000137	Abnormality of the ovary	2956	MSH6	ORPHA:144
HP:0000137	Abnormality of the ovary	2956	MSH6	OMIM:614350
HP:0000137	Abnormality of the ovary	5378	PMS1	ORPHA:144
HP:0000137	Abnormality of the ovary	80326	WNT10A	ORPHA:50944
HP:0000137	Abnormality of the ovary	2130	EWSR1	ORPHA:83469
HP:0000137	Abnormality of the ovary	64218	SEMA4A	ORPHA:440437
HP:0000137	Abnormality of the ovary	657	BMPR1A	ORPHA:440437
HP:0000137	Abnormality of the ovary	6224	RPS20	ORPHA:440437
HP:0000137	Abnormality of the ovary	2304	FOXE1	OMIM:616534
HP:0000137	Abnormality of the ovary	65998	ZFTA	ORPHA:251636
HP:0000137	Abnormality of the ovary	5970	RELA	ORPHA:251636
HP:0000137	Abnormality of the ovary	3418	IDH2	ORPHA:163634
HP:0000137	Abnormality of the ovary	3417	IDH1	ORPHA:163634
HP:0000137	Abnormality of the ovary	161742	SPRED1	ORPHA:137605
HP:0000137	Abnormality of the ovary	4000	LMNA	ORPHA:79474
HP:0000137	Abnormality of the ovary	9817	KEAP1	ORPHA:276399
HP:0000137	Abnormality of the ovary	2313	FLI1	ORPHA:370348
HP:0000137	Abnormality of the ovary	999	CDH1	OMIM:167000
HP:0000137	Abnormality of the ovary	5071	PRKN	OMIM:167000
HP:0000137	Abnormality of the ovary	4978	OPCML	OMIM:167000
HP:0000137	Abnormality of the ovary	207	AKT1	OMIM:167000
HP:0000137	Abnormality of the ovary	2064	ERBB2	OMIM:167000
HP:0000137	Abnormality of the ovary	1499	CTNNB1	OMIM:167000
HP:0000137	Abnormality of the ovary	2263	FGFR2	OMIM:123500
HP:0000137	Abnormality of the ovary	4281	MID1	ORPHA:2745
HP:0000138	Ovarian cyst	5295	PIK3R1	OMIM:269880
HP:0000138	Ovarian cyst	4913	NTHL1	ORPHA:454840
HP:0000138	Ovarian cyst	3643	INSR	OMIM:246200
HP:0000138	Ovarian cyst	55503	TRPV6	OMIM:618188
HP:0000138	Ovarian cyst	2155	F7	ORPHA:327
HP:0000138	Ovarian cyst	2778	GNAS	ORPHA:562
HP:0000138	Ovarian cyst	6899	TBX1	OMIM:188400
HP:0000138	Ovarian cyst	3972	LHB	OMIM:228300
HP:0000138	Ovarian cyst	8481	OFD1	OMIM:311200
HP:0000138	Ovarian cyst	7840	ALMS1	ORPHA:64
HP:0000138	Ovarian cyst	6662	SOX9	ORPHA:393
HP:0000138	Ovarian cyst	6662	SOX9	ORPHA:2138
HP:0000138	Ovarian cyst	6662	SOX9	ORPHA:242
HP:0000138	Ovarian cyst	6658	SOX3	ORPHA:393
HP:0000138	Ovarian cyst	2516	NR5A1	ORPHA:393
HP:0000138	Ovarian cyst	2516	NR5A1	ORPHA:2138
HP:0000138	Ovarian cyst	2516	NR5A1	ORPHA:242
HP:0000138	Ovarian cyst	6736	SRY	ORPHA:393
HP:0000138	Ovarian cyst	6736	SRY	ORPHA:2138
HP:0000138	Ovarian cyst	6736	SRY	ORPHA:242
HP:0000138	Ovarian cyst	190	NR0B1	ORPHA:393
HP:0000138	Ovarian cyst	190	NR0B1	ORPHA:242
HP:0000138	Ovarian cyst	26580	BSCL2	OMIM:269700
HP:0000138	Ovarian cyst	26580	BSCL2	ORPHA:528
HP:0000138	Ovarian cyst	3991	LIPE	ORPHA:435660
HP:0000138	Ovarian cyst	4519	MT-CYB	ORPHA:137675
HP:0000138	Ovarian cyst	2321	FLT1	ORPHA:275555
HP:0000138	Ovarian cyst	219736	STOX1	ORPHA:275555
HP:0000138	Ovarian cyst	10699	CORIN	ORPHA:275555
HP:0000138	Ovarian cyst	6804	STX1A	ORPHA:904
HP:0000138	Ovarian cyst	7461	CLIP2	ORPHA:904
HP:0000138	Ovarian cyst	84277	DNAJC30	ORPHA:904
HP:0000138	Ovarian cyst	8468	FKBP6	ORPHA:904
HP:0000138	Ovarian cyst	5982	RFC2	ORPHA:904
HP:0000138	Ovarian cyst	2969	GTF2I	ORPHA:904
HP:0000138	Ovarian cyst	3984	LIMK1	ORPHA:904
HP:0000138	Ovarian cyst	9569	GTF2IRD1	ORPHA:904
HP:0000138	Ovarian cyst	155382	VPS37D	ORPHA:904
HP:0000138	Ovarian cyst	155368	METTL27	ORPHA:904
HP:0000138	Ovarian cyst	114049	BUD23	ORPHA:904
HP:0000138	Ovarian cyst	7458	EIF4H	ORPHA:904
HP:0000138	Ovarian cyst	84163	GTF2IRD2	ORPHA:904
HP:0000138	Ovarian cyst	9275	BCL7B	ORPHA:904
HP:0000138	Ovarian cyst	26608	TBL2	ORPHA:904
HP:0000138	Ovarian cyst	653361	NCF1	ORPHA:904
HP:0000138	Ovarian cyst	135886	TMEM270	ORPHA:904
HP:0000138	Ovarian cyst	51085	MLXIPL	ORPHA:904
HP:0000138	Ovarian cyst	9031	BAZ1B	ORPHA:904
HP:0000138	Ovarian cyst	2006	ELN	ORPHA:904
HP:0000138	Ovarian cyst	118429	ANTXR2	ORPHA:2176
HP:0000138	Ovarian cyst	472	ATM	ORPHA:100
HP:0000138	Ovarian cyst	5346	PLIN1	ORPHA:280356
HP:0000138	Ovarian cyst	5468	PPARG	OMIM:604367
HP:0000138	Ovarian cyst	5468	PPARG	ORPHA:79083
HP:0000138	Ovarian cyst	5468	PPARG	ORPHA:528
HP:0000138	Ovarian cyst	63924	CIDEC	ORPHA:435651
HP:0000138	Ovarian cyst	6927	HNF1A	OMIM:142330
HP:0000138	Ovarian cyst	668	FOXL2	ORPHA:572333
HP:0000138	Ovarian cyst	2542	SLC37A4	ORPHA:79259
HP:0000138	Ovarian cyst	1584	CYP11B1	ORPHA:90795
HP:0000138	Ovarian cyst	4000	LMNA	ORPHA:280365
HP:0000138	Ovarian cyst	4000	LMNA	ORPHA:79084
HP:0000138	Ovarian cyst	4000	LMNA	OMIM:151660
HP:0000138	Ovarian cyst	4000	LMNA	ORPHA:2229
HP:0000138	Ovarian cyst	4000	LMNA	ORPHA:2348
HP:0000138	Ovarian cyst	208	AKT2	ORPHA:79085
HP:0000138	Ovarian cyst	5257	PHKB	ORPHA:79240
HP:0000138	Ovarian cyst	10555	AGPAT2	ORPHA:528
HP:0000138	Ovarian cyst	10555	AGPAT2	OMIM:608594
HP:0000138	Ovarian cyst	284119	CAVIN1	ORPHA:528
HP:0000138	Ovarian cyst	2353	FOS	ORPHA:528
HP:0000138	Ovarian cyst	857	CAV1	ORPHA:528
HP:0000138	Ovarian cyst	4313	MMP2	ORPHA:371428
HP:0000138	Ovarian cyst	4323	MMP14	ORPHA:371428
HP:0000138	Ovarian cyst	1761	DMRT1	ORPHA:242
HP:0000138	Ovarian cyst	84733	CBX2	ORPHA:242
HP:0000138	Ovarian cyst	50846	DHH	ORPHA:242
HP:0000138	Ovarian cyst	4214	MAP3K1	ORPHA:242
HP:0000138	Ovarian cyst	7490	WT1	ORPHA:242
HP:0000138	Ovarian cyst	57647	DHX37	ORPHA:242
HP:0000138	Ovarian cyst	5256	PHKA2	ORPHA:264580
HP:0000138	Ovarian cyst	5261	PHKG2	ORPHA:264580
HP:0000138	Ovarian cyst	24145	PANX1	ORPHA:488191
HP:0000138	Ovarian cyst	494551	WEE2	ORPHA:488191
HP:0000138	Ovarian cyst	197135	PATL2	ORPHA:488191
HP:0000138	Ovarian cyst	347688	TUBB8	ORPHA:488191
HP:0000138	Ovarian cyst	84823	LMNB2	OMIM:608709
HP:0000138	Ovarian cyst	29072	SETD2	OMIM:616831
HP:0000138	Ovarian cyst	4487	MSX1	ORPHA:2228
HP:0000138	Ovarian cyst	1528	CYB5A	ORPHA:90796
HP:0000138	Ovarian cyst	1586	CYP17A1	ORPHA:90796
HP:0000138	Ovarian cyst	2099	ESR1	ORPHA:785
HP:0000138	Ovarian cyst	10483	SEC23B	ORPHA:201
HP:0000138	Ovarian cyst	5728	PTEN	ORPHA:201
HP:0000138	Ovarian cyst	5728	PTEN	ORPHA:744
HP:0000138	Ovarian cyst	6390	SDHB	ORPHA:201
HP:0000138	Ovarian cyst	6392	SDHD	ORPHA:201
HP:0000138	Ovarian cyst	6391	SDHC	ORPHA:201
HP:0000138	Ovarian cyst	207	AKT1	ORPHA:201
HP:0000138	Ovarian cyst	207	AKT1	ORPHA:744
HP:0000138	Ovarian cyst	205717	USF3	ORPHA:201
HP:0000138	Ovarian cyst	5290	PIK3CA	ORPHA:201
HP:0000138	Ovarian cyst	100144748	KLLN	ORPHA:201
HP:0000138	Ovarian cyst	6794	STK11	ORPHA:2869
HP:0000138	Ovarian cyst	2492	FSHR	ORPHA:64739
HP:0000138	Ovarian cyst	1588	CYP19A1	ORPHA:91
HP:0000138	Ovarian cyst	5447	POR	ORPHA:95699
HP:0000138	Ovarian cyst	5618	PRLR	ORPHA:397685
HP:0000138	Ovarian cyst	4437	MSH3	ORPHA:480536
HP:0000138	Ovarian cyst	5573	PRKAR1A	ORPHA:1359
HP:0000138	Ovarian cyst	50940	PDE11A	ORPHA:1359
HP:0010353	Second toe symphalangism	51776	MAP3K20	ORPHA:488232
HP:0010356	Abnormality of the distal phalanx of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010356	Abnormality of the distal phalanx of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0010358	Abnormal morphology of the proximal phalanx of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	51776	MAP3K20	ORPHA:488232
HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	4000	LMNA	ORPHA:2229
HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	285203	EOGT	OMIM:615297
HP:0030786	Photopsia	138050	HGSNAT	OMIM:616544
HP:0030786	Photopsia	23370	ARHGEF18	OMIM:617433
HP:0030786	Photopsia	8314	BAP1	ORPHA:39044
HP:0030786	Photopsia	57105	CYSLTR2	ORPHA:39044
HP:0030786	Photopsia	2776	GNAQ	ORPHA:39044
HP:0030786	Photopsia	2767	GNA11	ORPHA:39044
HP:0030786	Photopsia	23451	SF3B1	ORPHA:39044
HP:0030786	Photopsia	773	CACNA1A	ORPHA:569
HP:0030786	Photopsia	112476	PRRT2	ORPHA:569
HP:0030786	Photopsia	6323	SCN1A	ORPHA:569
HP:0030786	Photopsia	477	ATP1A2	ORPHA:569
HP:0030784	Anomic aphasia	25978	CHMP2B	ORPHA:100069
HP:0030784	Anomic aphasia	5663	PSEN1	ORPHA:100069
HP:0030784	Anomic aphasia	2896	GRN	ORPHA:100069
HP:0030784	Anomic aphasia	54664	TMEM106B	ORPHA:100069
HP:0030784	Anomic aphasia	4137	MAPT	ORPHA:100069
HP:0030784	Anomic aphasia	4137	MAPT	ORPHA:240112
HP:0030784	Anomic aphasia	54209	TREM2	ORPHA:100069
HP:0030784	Anomic aphasia	5354	PLP1	ORPHA:280229
HP:0007301	Oromotor apraxia	1213	CLTC	OMIM:617854
HP:0007301	Oromotor apraxia	2260	FGFR1	ORPHA:220386
HP:0007301	Oromotor apraxia	2260	FGFR1	ORPHA:93924
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:220386
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93926
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93924
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93925
HP:0007301	Oromotor apraxia	10735	STAG2	ORPHA:220386
HP:0007301	Oromotor apraxia	10735	STAG2	ORPHA:93925
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:220386
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93926
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93924
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93925
HP:0007301	Oromotor apraxia	8243	SMC1A	ORPHA:220386
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:220386
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93926
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93924
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93925
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:220386
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93926
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93924
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93925
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:220386
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93926
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93924
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93925
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:220386
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93926
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93924
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93925
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:220386
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93926
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93924
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93925
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:220386
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93926
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93924
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93925
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:220386
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93926
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93924
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93925
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:220386
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93926
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93924
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93925
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:220386
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93926
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93924
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93925
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:220386
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93926
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93924
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93925
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:220386
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93926
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93924
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93925
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:220386
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93926
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93924
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93925
HP:0007301	Oromotor apraxia	55823	VPS11	ORPHA:466934
HP:0007301	Oromotor apraxia	1650	DDOST	ORPHA:300536
HP:0007301	Oromotor apraxia	23007	PLCH1	ORPHA:93925
HP:0007301	Oromotor apraxia	9289	ADGRG1	ORPHA:98889
HP:0007301	Oromotor apraxia	5297	PI4KA	ORPHA:98889
HP:0007301	Oromotor apraxia	27286	SRPX2	ORPHA:98889
HP:0007301	Oromotor apraxia	93986	FOXP2	OMIM:602081
HP:0007301	Oromotor apraxia	27086	FOXP1	ORPHA:391372
HP:0007301	Oromotor apraxia	347733	TUBB2B	ORPHA:300573
HP:0007302	Bipolar affective disorder	291	SLC25A4	ORPHA:254892
HP:0007302	Bipolar affective disorder	5428	POLG	ORPHA:254892
HP:0007302	Bipolar affective disorder	56652	TWNK	ORPHA:254892
HP:0007302	Bipolar affective disorder	11232	POLG2	ORPHA:254892
HP:0007302	Bipolar affective disorder	50484	RRM2B	ORPHA:254892
HP:0007302	Bipolar affective disorder	4558	MT-TF	ORPHA:550
HP:0007302	Bipolar affective disorder	4572	MT-TQ	ORPHA:550
HP:0007302	Bipolar affective disorder	4512	MT-CO1	ORPHA:550
HP:0007302	Bipolar affective disorder	4513	MT-CO2	ORPHA:550
HP:0007302	Bipolar affective disorder	4514	MT-CO3	ORPHA:550
HP:0007302	Bipolar affective disorder	4578	MT-TW	ORPHA:550
HP:0007302	Bipolar affective disorder	4540	MT-ND5	ORPHA:550
HP:0007302	Bipolar affective disorder	4541	MT-ND6	ORPHA:550
HP:0007302	Bipolar affective disorder	4535	MT-ND1	ORPHA:550
HP:0007302	Bipolar affective disorder	4538	MT-ND4	ORPHA:550
HP:0007302	Bipolar affective disorder	4567	MT-TL1	ORPHA:550
HP:0007302	Bipolar affective disorder	4574	MT-TS1	ORPHA:550
HP:0007302	Bipolar affective disorder	4575	MT-TS2	ORPHA:550
HP:0007302	Bipolar affective disorder	4564	MT-TH	ORPHA:550
HP:0007302	Bipolar affective disorder	64601	VPS16	OMIM:619291
HP:0007302	Bipolar affective disorder	6609	SMPD1	ORPHA:77293
HP:0007302	Bipolar affective disorder	1183	CLCN4	OMIM:300114
HP:0007302	Bipolar affective disorder	1183	CLCN4	ORPHA:485350
HP:0007302	Bipolar affective disorder	1139	CHRNA7	ORPHA:199318
HP:0007302	Bipolar affective disorder	1788	DNMT3A	ORPHA:404443
HP:0007302	Bipolar affective disorder	1312	COMT	ORPHA:567
HP:0007302	Bipolar affective disorder	221037	JMJD1C	ORPHA:567
HP:0007302	Bipolar affective disorder	2812	GP1BB	ORPHA:567
HP:0007302	Bipolar affective disorder	6239	RREB1	ORPHA:567
HP:0007302	Bipolar affective disorder	6899	TBX1	ORPHA:567
HP:0007302	Bipolar affective disorder	6899	TBX1	OMIM:188400
HP:0007302	Bipolar affective disorder	7290	HIRA	ORPHA:567
HP:0007302	Bipolar affective disorder	9632	SEC24C	ORPHA:567
HP:0007302	Bipolar affective disorder	7353	UFD1	ORPHA:567
HP:0007302	Bipolar affective disorder	421	ARVCF	ORPHA:567
HP:0007302	Bipolar affective disorder	387119	CEP85L	OMIM:618873
HP:0007302	Bipolar affective disorder	79152	FA2H	ORPHA:329308
HP:0007302	Bipolar affective disorder	93627	TBCK	ORPHA:488632
HP:0007302	Bipolar affective disorder	2890	GRIA1	OMIM:619927
HP:0007302	Bipolar affective disorder	5159	PDGFRB	OMIM:615007
HP:0007302	Bipolar affective disorder	4204	MECP2	ORPHA:3077
HP:0007302	Bipolar affective disorder	10137	RBM12	OMIM:617629
HP:0007302	Bipolar affective disorder	6197	RPS6KA3	ORPHA:276630
HP:0007302	Bipolar affective disorder	2313	FLI1	ORPHA:2308
HP:0007302	Bipolar affective disorder	488	ATP2A2	OMIM:124200
HP:0000140	Abnormality of the menstrual cycle	3690	ITGB3	OMIM:619271
HP:0000140	Abnormality of the menstrual cycle	3690	ITGB3	ORPHA:849
HP:0000140	Abnormality of the menstrual cycle	3690	ITGB3	OMIM:619267
HP:0000140	Abnormality of the menstrual cycle	3674	ITGA2B	OMIM:273800
HP:0000140	Abnormality of the menstrual cycle	3674	ITGA2B	ORPHA:849
HP:0000140	Abnormality of the menstrual cycle	2157	F8	ORPHA:177926
HP:0000140	Abnormality of the menstrual cycle	2157	F8	ORPHA:169802
HP:0000140	Abnormality of the menstrual cycle	2811	GP1BA	OMIM:153670
HP:0000140	Abnormality of the menstrual cycle	2811	GP1BA	ORPHA:274
HP:0000140	Abnormality of the menstrual cycle	2811	GP1BA	OMIM:231200
HP:0000140	Abnormality of the menstrual cycle	2812	GP1BB	ORPHA:274
HP:0000140	Abnormality of the menstrual cycle	2812	GP1BB	OMIM:231200
HP:0000140	Abnormality of the menstrual cycle	2815	GP9	ORPHA:274
HP:0000140	Abnormality of the menstrual cycle	2815	GP9	OMIM:231200
HP:0000140	Abnormality of the menstrual cycle	7450	VWF	OMIM:193400
HP:0000140	Abnormality of the menstrual cycle	7450	VWF	OMIM:613554
HP:0000140	Abnormality of the menstrual cycle	7450	VWF	OMIM:277480
HP:0000140	Abnormality of the menstrual cycle	2155	F7	OMIM:227500
HP:0000140	Abnormality of the menstrual cycle	2155	F7	ORPHA:327
HP:0000140	Abnormality of the menstrual cycle	5618	PRLR	OMIM:615555
HP:0000140	Abnormality of the menstrual cycle	5618	PRLR	ORPHA:397685
HP:0000140	Abnormality of the menstrual cycle	5054	SERPINE1	ORPHA:465
HP:0000140	Abnormality of the menstrual cycle	5054	SERPINE1	OMIM:613329
HP:0000140	Abnormality of the menstrual cycle	89781	HPS4	OMIM:614073
HP:0000140	Abnormality of the menstrual cycle	11234	HPS5	OMIM:614074
HP:0000140	Abnormality of the menstrual cycle	388552	BLOC1S3	OMIM:614077
HP:0000140	Abnormality of the menstrual cycle	3998	LMAN1	ORPHA:35909
HP:0000140	Abnormality of the menstrual cycle	90411	MCFD2	ORPHA:35909
HP:0000140	Abnormality of the menstrual cycle	90411	MCFD2	OMIM:613625
HP:0000140	Abnormality of the menstrual cycle	84062	DTNBP1	OMIM:614076
HP:0000140	Abnormality of the menstrual cycle	5568	PRKACG	OMIM:616176
HP:0000140	Abnormality of the menstrual cycle	10235	RASGRP2	OMIM:615888
HP:0000140	Abnormality of the menstrual cycle	2542	SLC37A4	ORPHA:79259
HP:0000140	Abnormality of the menstrual cycle	23218	NBEAL2	OMIM:139090
HP:0000140	Abnormality of the menstrual cycle	2165	F13B	ORPHA:331
HP:0000140	Abnormality of the menstrual cycle	2162	F13A1	ORPHA:331
HP:0000140	Abnormality of the menstrual cycle	63915	BLOC1S5	OMIM:619172
HP:0000140	Abnormality of the menstrual cycle	2159	F10	OMIM:227600
HP:0000140	Abnormality of the menstrual cycle	2159	F10	ORPHA:328
HP:0000140	Abnormality of the menstrual cycle	2153	F5	OMIM:227400
HP:0000140	Abnormality of the menstrual cycle	2153	F5	ORPHA:326
HP:0000140	Abnormality of the menstrual cycle	51206	GP6	OMIM:614201
HP:0000140	Abnormality of the menstrual cycle	2147	F2	OMIM:613679
HP:0000140	Abnormality of the menstrual cycle	2147	F2	ORPHA:325
HP:0000140	Abnormality of the menstrual cycle	2160	F11	ORPHA:329
HP:0000140	Abnormality of the menstrual cycle	4627	MYH9	OMIM:155100
HP:0000140	Abnormality of the menstrual cycle	4627	MYH9	ORPHA:182050
HP:0000140	Abnormality of the menstrual cycle	2313	FLI1	OMIM:617443
HP:0000140	Abnormality of the menstrual cycle	5328	PLAU	OMIM:601709
HP:0000140	Abnormality of the menstrual cycle	342618	SLFN14	OMIM:616913
HP:0000140	Abnormality of the menstrual cycle	1729	DIAPH1	OMIM:124900
HP:0000140	Abnormality of the menstrual cycle	9319	TRIP13	OMIM:619011
HP:0000140	Abnormality of the menstrual cycle	540	ATP7B	ORPHA:905
HP:0000140	Abnormality of the menstrual cycle	54766	BTG4	OMIM:619009
HP:0000140	Abnormality of the menstrual cycle	55109	AGGF1	ORPHA:90308
HP:0000140	Abnormality of the menstrual cycle	7454	WAS	ORPHA:906
HP:0000140	Abnormality of the menstrual cycle	7456	WIPF1	ORPHA:906
HP:0000140	Abnormality of the menstrual cycle	6736	SRY	OMIM:400044
HP:0000140	Abnormality of the menstrual cycle	1027	CDKN1B	ORPHA:652
HP:0000140	Abnormality of the menstrual cycle	1026	CDKN1A	ORPHA:652
HP:0000140	Abnormality of the menstrual cycle	1030	CDKN2B	ORPHA:652
HP:0000140	Abnormality of the menstrual cycle	1031	CDKN2C	ORPHA:652
HP:0000140	Abnormality of the menstrual cycle	7476	WNT7A	OMIM:228930
HP:0000140	Abnormality of the menstrual cycle	654	BMP6	ORPHA:465508
HP:0000140	Abnormality of the menstrual cycle	3077	HFE	ORPHA:465508
HP:0000140	Abnormality of the menstrual cycle	3077	HFE	OMIM:235200
HP:0000140	Abnormality of the menstrual cycle	8314	BAP1	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	4771	NF2	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	6598	SMARCB1	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	5155	PDGFB	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	84231	TRAF7	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	6608	SMO	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	207	AKT1	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	5290	PIK3CA	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	7015	TERT	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	51684	SUFU	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	6605	SMARCE1	ORPHA:2495
HP:0000140	Abnormality of the menstrual cycle	23438	HARS2	OMIM:614926
HP:0000140	Abnormality of the menstrual cycle	148738	HJV	OMIM:602390
HP:0000140	Abnormality of the menstrual cycle	10555	AGPAT2	ORPHA:528
HP:0000140	Abnormality of the menstrual cycle	284119	CAVIN1	ORPHA:528
HP:0000140	Abnormality of the menstrual cycle	26580	BSCL2	ORPHA:528
HP:0000140	Abnormality of the menstrual cycle	2353	FOS	ORPHA:528
HP:0000140	Abnormality of the menstrual cycle	857	CAV1	ORPHA:528
HP:0000140	Abnormality of the menstrual cycle	7036	TFR2	OMIM:604250
HP:0000140	Abnormality of the menstrual cycle	3981	LIG4	OMIM:606593
HP:0000140	Abnormality of the menstrual cycle	5626	PROP1	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	5626	PROP1	ORPHA:90695
HP:0000140	Abnormality of the menstrual cycle	2736	GLI2	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	89884	LHX4	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	3170	FOXA2	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	5449	POU1F1	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	8820	HESX1	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	5015	OTX2	ORPHA:95494
HP:0000140	Abnormality of the menstrual cycle	4439	MSH5	OMIM:617442
HP:0000140	Abnormality of the menstrual cycle	55315	SLC29A3	ORPHA:168569
HP:0000140	Abnormality of the menstrual cycle	164045	HFM1	OMIM:615724
HP:0000140	Abnormality of the menstrual cycle	11232	POLG2	OMIM:619425
HP:0000140	Abnormality of the menstrual cycle	84168	ANTXR1	ORPHA:2067
HP:0000140	Abnormality of the menstrual cycle	6658	SOX3	ORPHA:90695
HP:0000140	Abnormality of the menstrual cycle	650	BMP2	OMIM:235200
HP:0000140	Abnormality of the menstrual cycle	2100	ESR2	OMIM:618187
HP:0000140	Abnormality of the menstrual cycle	84515	MCM8	OMIM:612885
HP:0000140	Abnormality of the menstrual cycle	5447	POR	ORPHA:95699
HP:0000140	Abnormality of the menstrual cycle	5447	POR	OMIM:201750
HP:0000140	Abnormality of the menstrual cycle	2099	ESR1	ORPHA:785
HP:0000140	Abnormality of the menstrual cycle	2099	ESR1	OMIM:615363
HP:0000140	Abnormality of the menstrual cycle	9150	CTDP1	OMIM:604168
HP:0000140	Abnormality of the menstrual cycle	367	AR	ORPHA:90797
HP:0000140	Abnormality of the menstrual cycle	367	AR	OMIM:300068
HP:0000140	Abnormality of the menstrual cycle	367	AR	ORPHA:99429
HP:0000140	Abnormality of the menstrual cycle	6492	SIM1	ORPHA:398079
HP:0000140	Abnormality of the menstrual cycle	1363	CPE	OMIM:619326
HP:0000140	Abnormality of the menstrual cycle	3952	LEP	ORPHA:66628
HP:0000140	Abnormality of the menstrual cycle	3952	LEP	OMIM:614962
HP:0000140	Abnormality of the menstrual cycle	6638	SNRPN	ORPHA:177904
HP:0000140	Abnormality of the menstrual cycle	6638	SNRPN	ORPHA:177901
HP:0000140	Abnormality of the menstrual cycle	6638	SNRPN	ORPHA:98754
HP:0000140	Abnormality of the menstrual cycle	4692	NDN	ORPHA:177904
HP:0000140	Abnormality of the menstrual cycle	4692	NDN	ORPHA:177901
HP:0000140	Abnormality of the menstrual cycle	4692	NDN	ORPHA:98754
HP:0000140	Abnormality of the menstrual cycle	4948	OCA2	ORPHA:177904
HP:0000140	Abnormality of the menstrual cycle	4948	OCA2	ORPHA:177901
HP:0000140	Abnormality of the menstrual cycle	4948	OCA2	ORPHA:98754
HP:0000140	Abnormality of the menstrual cycle	254394	MCM9	OMIM:616185
HP:0000140	Abnormality of the menstrual cycle	55154	MSTO1	OMIM:617675
HP:0000140	Abnormality of the menstrual cycle	55154	MSTO1	ORPHA:502423
HP:0000140	Abnormality of the menstrual cycle	9692	PRORP	OMIM:619737
HP:0000140	Abnormality of the menstrual cycle	658	BMPR1B	OMIM:609441
HP:0000140	Abnormality of the menstrual cycle	7490	WT1	OMIM:136680
HP:0000140	Abnormality of the menstrual cycle	7490	WT1	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	7490	WT1	ORPHA:347
HP:0000140	Abnormality of the menstrual cycle	54361	WNT4	OMIM:158330
HP:0000140	Abnormality of the menstrual cycle	54361	WNT4	ORPHA:247768
HP:0000140	Abnormality of the menstrual cycle	23347	SMCHD1	OMIM:603457
HP:0000140	Abnormality of the menstrual cycle	2661	GDF9	OMIM:618014
HP:0000140	Abnormality of the menstrual cycle	51199	NIN	OMIM:614851
HP:0000140	Abnormality of the menstrual cycle	51199	NIN	ORPHA:319675
HP:0000140	Abnormality of the menstrual cycle	9723	SEMA3E	OMIM:146110
HP:0000140	Abnormality of the menstrual cycle	558	AXL	OMIM:146110
HP:0000140	Abnormality of the menstrual cycle	10011	SRA1	OMIM:146110
HP:0000140	Abnormality of the menstrual cycle	285025	CCDC141	OMIM:146110
HP:0000140	Abnormality of the menstrual cycle	285025	CCDC141	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	389549	FEZF1	OMIM:146110
HP:0000140	Abnormality of the menstrual cycle	389549	FEZF1	OMIM:616030
HP:0000140	Abnormality of the menstrual cycle	389549	FEZF1	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	3953	LEPR	ORPHA:179494
HP:0000140	Abnormality of the menstrual cycle	6662	SOX9	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	6845	VAMP7	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	51741	WWOX	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	4214	MAP3K1	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	58524	DMRT3	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	57647	DHX37	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	57647	DHX37	OMIM:273250
HP:0000140	Abnormality of the menstrual cycle	23414	ZFPM2	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	190	NR0B1	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	2626	GATA4	ORPHA:251510
HP:0000140	Abnormality of the menstrual cycle	50846	DHH	OMIM:233420
HP:0000140	Abnormality of the menstrual cycle	50846	DHH	OMIM:607080
HP:0000140	Abnormality of the menstrual cycle	50846	DHH	ORPHA:168563
HP:0000140	Abnormality of the menstrual cycle	1588	CYP19A1	ORPHA:91
HP:0000140	Abnormality of the menstrual cycle	1588	CYP19A1	OMIM:613546
HP:0000140	Abnormality of the menstrual cycle	23476	BRD4	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	9126	SMC3	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	8243	SMC1A	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	25836	NIPBL	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	55869	HDAC8	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	5885	RAD21	ORPHA:199
HP:0000140	Abnormality of the menstrual cycle	402381	SOHLH1	OMIM:617690
HP:0000140	Abnormality of the menstrual cycle	5189	PEX1	ORPHA:3220
HP:0000140	Abnormality of the menstrual cycle	5190	PEX6	ORPHA:3220
HP:0000140	Abnormality of the menstrual cycle	6091	ROBO1	ORPHA:95496
HP:0000140	Abnormality of the menstrual cycle	50937	CDON	ORPHA:95496
HP:0000140	Abnormality of the menstrual cycle	23432	GPR161	ORPHA:95496
HP:0000140	Abnormality of the menstrual cycle	79983	POF1B	OMIM:300604
HP:0000140	Abnormality of the menstrual cycle	56652	TWNK	OMIM:616138
HP:0000140	Abnormality of the menstrual cycle	2625	GATA3	OMIM:146255
HP:0000140	Abnormality of the menstrual cycle	3295	HSD17B4	OMIM:233400
HP:0000140	Abnormality of the menstrual cycle	10734	STAG3	OMIM:615723
HP:0000140	Abnormality of the menstrual cycle	5122	PCSK1	OMIM:600955
HP:0000140	Abnormality of the menstrual cycle	79625	NDNF	OMIM:618841
HP:0000140	Abnormality of the menstrual cycle	79625	NDNF	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	8565	YARS1	OMIM:619418
HP:0000140	Abnormality of the menstrual cycle	8192	CLPP	OMIM:614129
HP:0000140	Abnormality of the menstrual cycle	93426	SYCE1	OMIM:616947
HP:0000140	Abnormality of the menstrual cycle	8626	TP63	ORPHA:69085
HP:0000140	Abnormality of the menstrual cycle	8516	ITGA8	OMIM:191830
HP:0000140	Abnormality of the menstrual cycle	93587	TRMT10A	OMIM:616033
HP:0000140	Abnormality of the menstrual cycle	10371	SEMA3A	OMIM:614897
HP:0000140	Abnormality of the menstrual cycle	10371	SEMA3A	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	23767	FLRT3	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	1630	DCC	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	3730	ANOS1	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	54756	IL17RD	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	6663	SOX10	ORPHA:478
HP:0000140	Abnormality of the menstrual cycle	668	FOXL2	OMIM:110100
HP:0000140	Abnormality of the menstrual cycle	50964	SOST	OMIM:269500
HP:0000140	Abnormality of the menstrual cycle	5573	PRKAR1A	ORPHA:950
HP:0000140	Abnormality of the menstrual cycle	5573	PRKAR1A	ORPHA:189439
HP:0000140	Abnormality of the menstrual cycle	5573	PRKAR1A	OMIM:101800
HP:0000140	Abnormality of the menstrual cycle	5144	PDE4D	ORPHA:950
HP:0000140	Abnormality of the menstrual cycle	7840	ALMS1	ORPHA:64
HP:0000140	Abnormality of the menstrual cycle	7840	ALMS1	OMIM:203800
HP:0000140	Abnormality of the menstrual cycle	2261	FGFR3	OMIM:616482
HP:0000140	Abnormality of the menstrual cycle	5566	PRKACA	ORPHA:189439
HP:0000140	Abnormality of the menstrual cycle	8622	PDE8B	ORPHA:189439
HP:0000140	Abnormality of the menstrual cycle	50940	PDE11A	ORPHA:189439
HP:0000140	Abnormality of the menstrual cycle	63924	CIDEC	OMIM:615238
HP:0000140	Abnormality of the menstrual cycle	5257	PHKB	ORPHA:79240
HP:0000140	Abnormality of the menstrual cycle	9049	AIP	OMIM:102200
HP:0000140	Abnormality of the menstrual cycle	9049	AIP	ORPHA:2965
HP:0000140	Abnormality of the menstrual cycle	2778	GNAS	ORPHA:562
HP:0000140	Abnormality of the menstrual cycle	2778	GNAS	ORPHA:189427
HP:0000140	Abnormality of the menstrual cycle	57697	FANCM	OMIM:618096
HP:0000140	Abnormality of the menstrual cycle	11077	HSF2BP	OMIM:619245
HP:0000140	Abnormality of the menstrual cycle	317761	C14orf39	OMIM:619203
HP:0000140	Abnormality of the menstrual cycle	26284	ERAL1	OMIM:617565
HP:0000140	Abnormality of the menstrual cycle	5256	PHKA2	ORPHA:264580
HP:0000140	Abnormality of the menstrual cycle	5261	PHKG2	ORPHA:264580
HP:0000140	Abnormality of the menstrual cycle	64072	CDH23	ORPHA:91347
HP:0000140	Abnormality of the menstrual cycle	64072	CDH23	ORPHA:2965
HP:0000140	Abnormality of the menstrual cycle	2908	NR3C1	OMIM:615962
HP:0000140	Abnormality of the menstrual cycle	29072	SETD2	OMIM:616831
HP:0000140	Abnormality of the menstrual cycle	4221	MEN1	ORPHA:2965
HP:0000140	Abnormality of the menstrual cycle	79798	ARMC5	ORPHA:189427
HP:0000140	Abnormality of the menstrual cycle	2332	FMR1	OMIM:311360
HP:0000140	Abnormality of the menstrual cycle	27241	BBS9	OMIM:615986
HP:0000140	Abnormality of the menstrual cycle	5696	PSMB8	OMIM:256040
HP:0000140	Abnormality of the menstrual cycle	1161	ERCC8	OMIM:216400
HP:0000140	Abnormality of the menstrual cycle	1586	CYP17A1	ORPHA:90793
HP:0000140	Abnormality of the menstrual cycle	1584	CYP11B1	ORPHA:90795
HP:0000140	Abnormality of the menstrual cycle	2592	GALT	ORPHA:79239
HP:0000140	Abnormality of the menstrual cycle	4000	LMNA	ORPHA:280365
HP:0000140	Abnormality of the menstrual cycle	4000	LMNA	ORPHA:79474
HP:0000140	Abnormality of the menstrual cycle	4000	LMNA	ORPHA:2348
HP:0000140	Abnormality of the menstrual cycle	2260	FGFR1	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	81848	SPRY4	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	128674	PROKR2	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	2253	FGF8	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	60675	PROK2	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	55636	CHD7	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	6870	TACR3	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	1848	DUSP6	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	26012	NSMF	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	55717	WDR11	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	9394	HS6ST1	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	2796	GNRH1	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	2798	GNRHR	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	84634	KISS1R	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	6866	TAC3	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	8822	FGF17	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	3814	KISS1	ORPHA:432
HP:0000140	Abnormality of the menstrual cycle	84196	USP48	ORPHA:96253
HP:0000140	Abnormality of the menstrual cycle	7157	TP53	ORPHA:96253
HP:0000140	Abnormality of the menstrual cycle	9101	USP8	ORPHA:96253
HP:0000140	Abnormality of the menstrual cycle	673	BRAF	ORPHA:96253
HP:0000140	Abnormality of the menstrual cycle	546	ATRX	ORPHA:96253
HP:0000140	Abnormality of the menstrual cycle	55213	RCBTB1	OMIM:617175
HP:0000140	Abnormality of the menstrual cycle	1730	DIAPH2	OMIM:300511
HP:0000140	Abnormality of the menstrual cycle	9210	BMP15	OMIM:300510
HP:0000140	Abnormality of the menstrual cycle	9210	BMP15	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	4438	MSH4	OMIM:619938
HP:0000140	Abnormality of the menstrual cycle	2074	ERCC6	OMIM:616946
HP:0000140	Abnormality of the menstrual cycle	5468	PPARG	ORPHA:79083
HP:0000140	Abnormality of the menstrual cycle	57817	HAMP	OMIM:613313
HP:0000140	Abnormality of the menstrual cycle	2516	NR5A1	OMIM:612964
HP:0000140	Abnormality of the menstrual cycle	2516	NR5A1	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	5428	POLG	OMIM:258450
HP:0000140	Abnormality of the menstrual cycle	5428	POLG	OMIM:157640
HP:0000140	Abnormality of the menstrual cycle	9060	PAPSS2	OMIM:612847
HP:0000140	Abnormality of the menstrual cycle	7486	WRN	ORPHA:902
HP:0000140	Abnormality of the menstrual cycle	1967	EIF2B1	OMIM:603896
HP:0000140	Abnormality of the menstrual cycle	29893	PSMC3IP	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	171568	POLR3H	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	125150	ZSWIM7	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	57122	NUP107	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	23514	SPIDR	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	2492	FSHR	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	56945	MRPS22	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	646	BNC1	ORPHA:243
HP:0000140	Abnormality of the menstrual cycle	6907	TBL1X	OMIM:301033
HP:0000140	Abnormality of the menstrual cycle	5718	PSMD12	ORPHA:529962
HP:0000140	Abnormality of the menstrual cycle	2186	BPTF	ORPHA:529962
HP:0000140	Abnormality of the menstrual cycle	3972	LHB	OMIM:228300
HP:0000140	Abnormality of the menstrual cycle	23395	LARS2	OMIM:615300
HP:0000140	Abnormality of the menstrual cycle	344018	FIGLA	OMIM:612310
HP:0000140	Abnormality of the menstrual cycle	54476	RNF216	OMIM:212840
HP:0000140	Abnormality of the menstrual cycle	7086	TKT	ORPHA:488618
HP:0000140	Abnormality of the menstrual cycle	135935	NOBOX	OMIM:611548
HP:0000140	Abnormality of the menstrual cycle	9563	H6PD	OMIM:604931
HP:0000140	Abnormality of the menstrual cycle	3991	LIPE	ORPHA:435660
HP:0000140	Abnormality of the menstrual cycle	208	AKT2	ORPHA:79085
HP:0000140	Abnormality of the menstrual cycle	5346	PLIN1	OMIM:613877
HP:0000140	Abnormality of the menstrual cycle	5346	PLIN1	ORPHA:280356
HP:0000140	Abnormality of the menstrual cycle	7681	MKRN3	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	3653	IPW	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	54551	MAGEL2	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	791114	PWRN1	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	100033413	SNORD116-1	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	8924	HERC2	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	145624	PWAR1	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	23742	NPAP1	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	338433	SNORD115-1	OMIM:176270
HP:0000140	Abnormality of the menstrual cycle	493856	CISD2	OMIM:604928
HP:0000140	Abnormality of the menstrual cycle	10273	STUB1	ORPHA:412057
HP:0000140	Abnormality of the menstrual cycle	5192	PEX10	OMIM:614871
HP:0000140	Abnormality of the menstrual cycle	10269	ZMPSTE24	ORPHA:740
HP:0000140	Abnormality of the menstrual cycle	10165	SLC25A13	ORPHA:247585
HP:0000140	Abnormality of the menstrual cycle	10059	DNM1L	ORPHA:330050
HP:0000140	Abnormality of the menstrual cycle	2488	FSHB	ORPHA:52901
HP:0000140	Abnormality of the menstrual cycle	2690	GHR	OMIM:262500
HP:0000140	Abnormality of the menstrual cycle	5781	PTPN11	OMIM:151100
HP:0000140	Abnormality of the menstrual cycle	1528	CYB5A	ORPHA:90796
HP:0000140	Abnormality of the menstrual cycle	3481	IGF2	ORPHA:397590
HP:0000140	Abnormality of the menstrual cycle	1028	CDKN1C	ORPHA:397590
HP:0000140	Abnormality of the menstrual cycle	5324	PLAG1	ORPHA:397590
HP:0000140	Abnormality of the menstrual cycle	8091	HMGA2	ORPHA:397590
HP:0000140	Abnormality of the menstrual cycle	83550	GPR101	ORPHA:963
HP:0000140	Abnormality of the menstrual cycle	6774	STAT3	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	5371	PML	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	5914	RARA	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	359948	IRF2BP2	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	81608	FIP1L1	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	4869	NPM1	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	54880	BCOR	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	64859	NABP1	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	6777	STAT5B	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	4926	NUMA1	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	7704	ZBTB16	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	79718	TBL1XR1	ORPHA:520
HP:0000140	Abnormality of the menstrual cycle	2243	FGA	ORPHA:98880
HP:0000140	Abnormality of the menstrual cycle	2244	FGB	ORPHA:98880
HP:0000140	Abnormality of the menstrual cycle	2266	FGG	ORPHA:98880
HP:0000141	Amenorrhea	4221	MEN1	ORPHA:652
HP:0000141	Amenorrhea	4221	MEN1	ORPHA:2965
HP:0000141	Amenorrhea	4221	MEN1	ORPHA:99725
HP:0000141	Amenorrhea	1027	CDKN1B	ORPHA:652
HP:0000141	Amenorrhea	1026	CDKN1A	ORPHA:652
HP:0000141	Amenorrhea	1030	CDKN2B	ORPHA:652
HP:0000141	Amenorrhea	1031	CDKN2C	ORPHA:652
HP:0000141	Amenorrhea	5618	PRLR	ORPHA:397685
HP:0000141	Amenorrhea	7476	WNT7A	OMIM:228930
HP:0000141	Amenorrhea	654	BMP6	ORPHA:465508
HP:0000141	Amenorrhea	3077	HFE	ORPHA:465508
HP:0000141	Amenorrhea	3077	HFE	OMIM:235200
HP:0000141	Amenorrhea	8314	BAP1	ORPHA:2495
HP:0000141	Amenorrhea	4771	NF2	ORPHA:2495
HP:0000141	Amenorrhea	6598	SMARCB1	ORPHA:2495
HP:0000141	Amenorrhea	5155	PDGFB	ORPHA:2495
HP:0000141	Amenorrhea	84231	TRAF7	ORPHA:2495
HP:0000141	Amenorrhea	6608	SMO	ORPHA:2495
HP:0000141	Amenorrhea	207	AKT1	ORPHA:2495
HP:0000141	Amenorrhea	5290	PIK3CA	ORPHA:2495
HP:0000141	Amenorrhea	7015	TERT	ORPHA:2495
HP:0000141	Amenorrhea	51684	SUFU	ORPHA:2495
HP:0000141	Amenorrhea	6605	SMARCE1	ORPHA:2495
HP:0000141	Amenorrhea	23438	HARS2	OMIM:614926
HP:0000141	Amenorrhea	148738	HJV	OMIM:602390
HP:0000141	Amenorrhea	10555	AGPAT2	ORPHA:528
HP:0000141	Amenorrhea	284119	CAVIN1	ORPHA:528
HP:0000141	Amenorrhea	26580	BSCL2	ORPHA:528
HP:0000141	Amenorrhea	2353	FOS	ORPHA:528
HP:0000141	Amenorrhea	857	CAV1	ORPHA:528
HP:0000141	Amenorrhea	7036	TFR2	OMIM:604250
HP:0000141	Amenorrhea	3981	LIG4	OMIM:606593
HP:0000141	Amenorrhea	5626	PROP1	ORPHA:95494
HP:0000141	Amenorrhea	5626	PROP1	ORPHA:90695
HP:0000141	Amenorrhea	2736	GLI2	ORPHA:95494
HP:0000141	Amenorrhea	89884	LHX4	ORPHA:95494
HP:0000141	Amenorrhea	3170	FOXA2	ORPHA:95494
HP:0000141	Amenorrhea	5449	POU1F1	ORPHA:95494
HP:0000141	Amenorrhea	8820	HESX1	ORPHA:95494
HP:0000141	Amenorrhea	5015	OTX2	ORPHA:95494
HP:0000141	Amenorrhea	4439	MSH5	OMIM:617442
HP:0000141	Amenorrhea	9049	AIP	ORPHA:2965
HP:0000141	Amenorrhea	9049	AIP	ORPHA:99725
HP:0000141	Amenorrhea	55315	SLC29A3	ORPHA:168569
HP:0000141	Amenorrhea	164045	HFM1	OMIM:615724
HP:0000141	Amenorrhea	11232	POLG2	OMIM:619425
HP:0000141	Amenorrhea	84168	ANTXR1	ORPHA:2067
HP:0000141	Amenorrhea	6658	SOX3	ORPHA:90695
HP:0000141	Amenorrhea	650	BMP2	OMIM:235200
HP:0000141	Amenorrhea	2100	ESR2	OMIM:618187
HP:0000141	Amenorrhea	84515	MCM8	OMIM:612885
HP:0000141	Amenorrhea	7681	MKRN3	OMIM:176270
HP:0000141	Amenorrhea	3653	IPW	OMIM:176270
HP:0000141	Amenorrhea	54551	MAGEL2	OMIM:176270
HP:0000141	Amenorrhea	54551	MAGEL2	ORPHA:177904
HP:0000141	Amenorrhea	54551	MAGEL2	ORPHA:177901
HP:0000141	Amenorrhea	54551	MAGEL2	ORPHA:398069
HP:0000141	Amenorrhea	54551	MAGEL2	ORPHA:98754
HP:0000141	Amenorrhea	791114	PWRN1	OMIM:176270
HP:0000141	Amenorrhea	100033413	SNORD116-1	OMIM:176270
HP:0000141	Amenorrhea	8924	HERC2	OMIM:176270
HP:0000141	Amenorrhea	145624	PWAR1	OMIM:176270
HP:0000141	Amenorrhea	23742	NPAP1	OMIM:176270
HP:0000141	Amenorrhea	338433	SNORD115-1	OMIM:176270
HP:0000141	Amenorrhea	5447	POR	ORPHA:95699
HP:0000141	Amenorrhea	5447	POR	OMIM:201750
HP:0000141	Amenorrhea	2099	ESR1	ORPHA:785
HP:0000141	Amenorrhea	2099	ESR1	OMIM:615363
HP:0000141	Amenorrhea	9150	CTDP1	OMIM:604168
HP:0000141	Amenorrhea	2488	FSHB	ORPHA:52901
HP:0000141	Amenorrhea	2488	FSHB	OMIM:229070
HP:0000141	Amenorrhea	1528	CYB5A	ORPHA:90796
HP:0000141	Amenorrhea	1586	CYP17A1	ORPHA:90796
HP:0000141	Amenorrhea	1586	CYP17A1	ORPHA:90793
HP:0000141	Amenorrhea	1586	CYP17A1	OMIM:202110
HP:0000141	Amenorrhea	367	AR	ORPHA:90797
HP:0000141	Amenorrhea	367	AR	OMIM:300068
HP:0000141	Amenorrhea	367	AR	ORPHA:99429
HP:0000141	Amenorrhea	6492	SIM1	ORPHA:398079
HP:0000141	Amenorrhea	1363	CPE	OMIM:619326
HP:0000141	Amenorrhea	3952	LEP	ORPHA:66628
HP:0000141	Amenorrhea	3952	LEP	OMIM:614962
HP:0000141	Amenorrhea	6638	SNRPN	ORPHA:177904
HP:0000141	Amenorrhea	6638	SNRPN	ORPHA:177901
HP:0000141	Amenorrhea	6638	SNRPN	ORPHA:98754
HP:0000141	Amenorrhea	4692	NDN	ORPHA:177904
HP:0000141	Amenorrhea	4692	NDN	ORPHA:177901
HP:0000141	Amenorrhea	4692	NDN	ORPHA:98754
HP:0000141	Amenorrhea	4948	OCA2	ORPHA:177904
HP:0000141	Amenorrhea	4948	OCA2	ORPHA:177901
HP:0000141	Amenorrhea	4948	OCA2	ORPHA:98754
HP:0000141	Amenorrhea	254394	MCM9	OMIM:616185
HP:0000141	Amenorrhea	55154	MSTO1	OMIM:617675
HP:0000141	Amenorrhea	55154	MSTO1	ORPHA:502423
HP:0000141	Amenorrhea	9692	PRORP	OMIM:619737
HP:0000141	Amenorrhea	658	BMPR1B	OMIM:609441
HP:0000141	Amenorrhea	7490	WT1	OMIM:136680
HP:0000141	Amenorrhea	7490	WT1	ORPHA:251510
HP:0000141	Amenorrhea	7490	WT1	ORPHA:347
HP:0000141	Amenorrhea	54361	WNT4	OMIM:158330
HP:0000141	Amenorrhea	54361	WNT4	ORPHA:247768
HP:0000141	Amenorrhea	23347	SMCHD1	OMIM:603457
HP:0000141	Amenorrhea	2661	GDF9	OMIM:618014
HP:0000141	Amenorrhea	51199	NIN	OMIM:614851
HP:0000141	Amenorrhea	51199	NIN	ORPHA:319675
HP:0000141	Amenorrhea	9723	SEMA3E	OMIM:146110
HP:0000141	Amenorrhea	558	AXL	OMIM:146110
HP:0000141	Amenorrhea	10011	SRA1	OMIM:146110
HP:0000141	Amenorrhea	285025	CCDC141	OMIM:146110
HP:0000141	Amenorrhea	285025	CCDC141	ORPHA:478
HP:0000141	Amenorrhea	389549	FEZF1	OMIM:146110
HP:0000141	Amenorrhea	389549	FEZF1	OMIM:616030
HP:0000141	Amenorrhea	389549	FEZF1	ORPHA:478
HP:0000141	Amenorrhea	3953	LEPR	ORPHA:179494
HP:0000141	Amenorrhea	6662	SOX9	ORPHA:251510
HP:0000141	Amenorrhea	6845	VAMP7	ORPHA:251510
HP:0000141	Amenorrhea	51741	WWOX	ORPHA:251510
HP:0000141	Amenorrhea	4214	MAP3K1	ORPHA:251510
HP:0000141	Amenorrhea	58524	DMRT3	ORPHA:251510
HP:0000141	Amenorrhea	57647	DHX37	ORPHA:251510
HP:0000141	Amenorrhea	57647	DHX37	OMIM:273250
HP:0000141	Amenorrhea	6736	SRY	ORPHA:251510
HP:0000141	Amenorrhea	6736	SRY	OMIM:400044
HP:0000141	Amenorrhea	23414	ZFPM2	ORPHA:251510
HP:0000141	Amenorrhea	190	NR0B1	ORPHA:251510
HP:0000141	Amenorrhea	2626	GATA4	ORPHA:251510
HP:0000141	Amenorrhea	50846	DHH	OMIM:233420
HP:0000141	Amenorrhea	50846	DHH	OMIM:607080
HP:0000141	Amenorrhea	50846	DHH	ORPHA:168563
HP:0000141	Amenorrhea	1588	CYP19A1	ORPHA:91
HP:0000141	Amenorrhea	1588	CYP19A1	OMIM:613546
HP:0000141	Amenorrhea	23476	BRD4	ORPHA:199
HP:0000141	Amenorrhea	9126	SMC3	ORPHA:199
HP:0000141	Amenorrhea	8243	SMC1A	ORPHA:199
HP:0000141	Amenorrhea	25836	NIPBL	ORPHA:199
HP:0000141	Amenorrhea	55869	HDAC8	ORPHA:199
HP:0000141	Amenorrhea	5885	RAD21	ORPHA:199
HP:0000141	Amenorrhea	402381	SOHLH1	OMIM:617690
HP:0000141	Amenorrhea	5189	PEX1	ORPHA:3220
HP:0000141	Amenorrhea	5190	PEX6	ORPHA:3220
HP:0000141	Amenorrhea	6091	ROBO1	ORPHA:95496
HP:0000141	Amenorrhea	50937	CDON	ORPHA:95496
HP:0000141	Amenorrhea	23432	GPR161	ORPHA:95496
HP:0000141	Amenorrhea	493856	CISD2	OMIM:604928
HP:0000141	Amenorrhea	79983	POF1B	OMIM:300604
HP:0000141	Amenorrhea	56652	TWNK	OMIM:616138
HP:0000141	Amenorrhea	2625	GATA3	OMIM:146255
HP:0000141	Amenorrhea	3295	HSD17B4	OMIM:233400
HP:0000141	Amenorrhea	10734	STAG3	OMIM:615723
HP:0000141	Amenorrhea	5122	PCSK1	OMIM:600955
HP:0000141	Amenorrhea	79625	NDNF	OMIM:618841
HP:0000141	Amenorrhea	79625	NDNF	ORPHA:478
HP:0000141	Amenorrhea	8565	YARS1	OMIM:619418
HP:0000141	Amenorrhea	8192	CLPP	OMIM:614129
HP:0000141	Amenorrhea	93426	SYCE1	OMIM:616947
HP:0000141	Amenorrhea	8626	TP63	ORPHA:69085
HP:0000141	Amenorrhea	8516	ITGA8	OMIM:191830
HP:0000141	Amenorrhea	93587	TRMT10A	OMIM:616033
HP:0000141	Amenorrhea	10371	SEMA3A	OMIM:614897
HP:0000141	Amenorrhea	10371	SEMA3A	ORPHA:478
HP:0000141	Amenorrhea	23767	FLRT3	ORPHA:478
HP:0000141	Amenorrhea	1630	DCC	ORPHA:478
HP:0000141	Amenorrhea	3730	ANOS1	ORPHA:478
HP:0000141	Amenorrhea	54756	IL17RD	ORPHA:478
HP:0000141	Amenorrhea	6663	SOX10	ORPHA:478
HP:0000141	Amenorrhea	2592	GALT	ORPHA:79239
HP:0000141	Amenorrhea	4000	LMNA	ORPHA:280365
HP:0000141	Amenorrhea	4000	LMNA	ORPHA:79474
HP:0000141	Amenorrhea	4000	LMNA	ORPHA:2348
HP:0000141	Amenorrhea	2260	FGFR1	ORPHA:432
HP:0000141	Amenorrhea	81848	SPRY4	ORPHA:432
HP:0000141	Amenorrhea	128674	PROKR2	ORPHA:432
HP:0000141	Amenorrhea	2253	FGF8	ORPHA:432
HP:0000141	Amenorrhea	60675	PROK2	ORPHA:432
HP:0000141	Amenorrhea	55636	CHD7	ORPHA:432
HP:0000141	Amenorrhea	6870	TACR3	ORPHA:432
HP:0000141	Amenorrhea	1848	DUSP6	ORPHA:432
HP:0000141	Amenorrhea	26012	NSMF	ORPHA:432
HP:0000141	Amenorrhea	55717	WDR11	ORPHA:432
HP:0000141	Amenorrhea	9394	HS6ST1	ORPHA:432
HP:0000141	Amenorrhea	2796	GNRH1	ORPHA:432
HP:0000141	Amenorrhea	2798	GNRHR	ORPHA:432
HP:0000141	Amenorrhea	84634	KISS1R	ORPHA:432
HP:0000141	Amenorrhea	6866	TAC3	ORPHA:432
HP:0000141	Amenorrhea	8822	FGF17	ORPHA:432
HP:0000141	Amenorrhea	3814	KISS1	ORPHA:432
HP:0000141	Amenorrhea	84196	USP48	ORPHA:96253
HP:0000141	Amenorrhea	7157	TP53	ORPHA:96253
HP:0000141	Amenorrhea	9101	USP8	ORPHA:96253
HP:0000141	Amenorrhea	64072	CDH23	ORPHA:96253
HP:0000141	Amenorrhea	2908	NR3C1	ORPHA:96253
HP:0000141	Amenorrhea	673	BRAF	ORPHA:96253
HP:0000141	Amenorrhea	546	ATRX	ORPHA:96253
HP:0000141	Amenorrhea	55213	RCBTB1	OMIM:617175
HP:0000141	Amenorrhea	1730	DIAPH2	OMIM:300511
HP:0000141	Amenorrhea	9210	BMP15	OMIM:300510
HP:0000141	Amenorrhea	9210	BMP15	ORPHA:243
HP:0000141	Amenorrhea	4438	MSH4	OMIM:619938
HP:0000141	Amenorrhea	2074	ERCC6	OMIM:616946
HP:0000141	Amenorrhea	5468	PPARG	ORPHA:79083
HP:0000141	Amenorrhea	57817	HAMP	OMIM:613313
HP:0000141	Amenorrhea	2516	NR5A1	OMIM:612964
HP:0000141	Amenorrhea	2516	NR5A1	ORPHA:243
HP:0000141	Amenorrhea	5573	PRKAR1A	OMIM:610489
HP:0000141	Amenorrhea	5428	POLG	OMIM:258450
HP:0000141	Amenorrhea	5428	POLG	OMIM:157640
HP:0000141	Amenorrhea	668	FOXL2	OMIM:608996
HP:0000141	Amenorrhea	668	FOXL2	ORPHA:572333
HP:0000141	Amenorrhea	9060	PAPSS2	OMIM:612847
HP:0000141	Amenorrhea	7486	WRN	ORPHA:902
HP:0000141	Amenorrhea	1967	EIF2B1	OMIM:603896
HP:0000141	Amenorrhea	29893	PSMC3IP	ORPHA:243
HP:0000141	Amenorrhea	171568	POLR3H	ORPHA:243
HP:0000141	Amenorrhea	125150	ZSWIM7	ORPHA:243
HP:0000141	Amenorrhea	57122	NUP107	ORPHA:243
HP:0000141	Amenorrhea	23514	SPIDR	ORPHA:243
HP:0000141	Amenorrhea	2492	FSHR	ORPHA:243
HP:0000141	Amenorrhea	56945	MRPS22	ORPHA:243
HP:0000141	Amenorrhea	646	BNC1	ORPHA:243
HP:0000141	Amenorrhea	57697	FANCM	OMIM:618096
HP:0000141	Amenorrhea	6907	TBL1X	OMIM:301033
HP:0000141	Amenorrhea	11077	HSF2BP	OMIM:619245
HP:0000141	Amenorrhea	317761	C14orf39	OMIM:619203
HP:0000141	Amenorrhea	5718	PSMD12	ORPHA:529962
HP:0000141	Amenorrhea	2186	BPTF	ORPHA:529962
HP:0000141	Amenorrhea	26284	ERAL1	OMIM:617565
HP:0000141	Amenorrhea	3972	LHB	OMIM:228300
HP:0000141	Amenorrhea	23395	LARS2	OMIM:615300
HP:0000141	Amenorrhea	344018	FIGLA	OMIM:612310
HP:0000141	Amenorrhea	54476	RNF216	OMIM:212840
HP:0000141	Amenorrhea	7086	TKT	ORPHA:488618
HP:0000141	Amenorrhea	135935	NOBOX	OMIM:611548
HP:0000143	Rectovaginal fistula	9361	LONP1	OMIM:600373
HP:0000143	Rectovaginal fistula	57167	SALL4	OMIM:147750
HP:0000143	Rectovaginal fistula	57167	SALL4	ORPHA:2307
HP:0000143	Rectovaginal fistula	92002	CCNQ	OMIM:300707
HP:0000143	Rectovaginal fistula	8195	MKKS	OMIM:236700
HP:0000143	Rectovaginal fistula	3588	IL10RB	OMIM:612567
HP:0000143	Rectovaginal fistula	3110	MNX1	OMIM:176450
HP:0000143	Rectovaginal fistula	26123	TCTN3	ORPHA:2753
HP:0000143	Rectovaginal fistula	10653	SPINT2	OMIM:270420
HP:0000143	Rectovaginal fistula	84172	POLR1B	ORPHA:861
HP:0000143	Rectovaginal fistula	9533	POLR1C	ORPHA:861
HP:0000143	Rectovaginal fistula	51082	POLR1D	ORPHA:861
HP:0000143	Rectovaginal fistula	6949	TCOF1	ORPHA:861
HP:0000143	Rectovaginal fistula	9401	RECQL4	OMIM:218600
HP:0000143	Rectovaginal fistula	197131	UBR1	OMIM:243800
HP:0000143	Rectovaginal fistula	6299	SALL1	OMIM:107480
HP:0000143	Rectovaginal fistula	6299	SALL1	ORPHA:857
HP:0000143	Rectovaginal fistula	267010	RNU12	OMIM:603116
HP:0000143	Rectovaginal fistula	374654	KIF7	OMIM:200990
HP:0000143	Rectovaginal fistula	51339	DACT1	OMIM:617466
HP:0000143	Rectovaginal fistula	51339	DACT1	ORPHA:857
HP:0000143	Rectovaginal fistula	1642	DDB1	OMIM:619426
HP:0000143	Rectovaginal fistula	3718	JAK3	ORPHA:35078
HP:0000143	Rectovaginal fistula	158326	FREM1	OMIM:608980
HP:0000143	Rectovaginal fistula	5297	PI4KA	OMIM:619708
HP:0000144	Decreased fertility	2245	FGD1	OMIM:305400
HP:0000144	Decreased fertility	26580	BSCL2	OMIM:269700
HP:0000144	Decreased fertility	6662	SOX9	ORPHA:2138
HP:0000144	Decreased fertility	2516	NR5A1	ORPHA:2138
HP:0000144	Decreased fertility	2516	NR5A1	ORPHA:243
HP:0000144	Decreased fertility	6736	SRY	ORPHA:2138
HP:0000144	Decreased fertility	1583	CYP11A1	ORPHA:168558
HP:0000144	Decreased fertility	1583	CYP11A1	ORPHA:289548
HP:0000144	Decreased fertility	9820	CUL7	ORPHA:2616
HP:0000144	Decreased fertility	23363	OBSL1	ORPHA:2616
HP:0000144	Decreased fertility	83987	CCDC8	ORPHA:2616
HP:0000144	Decreased fertility	1131	CHRM3	ORPHA:2970
HP:0000144	Decreased fertility	7486	WRN	ORPHA:902
HP:0000144	Decreased fertility	5781	PTPN11	ORPHA:500
HP:0000144	Decreased fertility	673	BRAF	ORPHA:500
HP:0000144	Decreased fertility	5894	RAF1	ORPHA:500
HP:0000144	Decreased fertility	64324	NSD1	ORPHA:821
HP:0000144	Decreased fertility	29072	SETD2	ORPHA:821
HP:0000144	Decreased fertility	10297	APC2	ORPHA:821
HP:0000144	Decreased fertility	5447	POR	ORPHA:95699
HP:0000144	Decreased fertility	29893	PSMC3IP	ORPHA:243
HP:0000144	Decreased fertility	171568	POLR3H	ORPHA:243
HP:0000144	Decreased fertility	125150	ZSWIM7	ORPHA:243
HP:0000144	Decreased fertility	9210	BMP15	ORPHA:243
HP:0000144	Decreased fertility	57122	NUP107	ORPHA:243
HP:0000144	Decreased fertility	23514	SPIDR	ORPHA:243
HP:0000144	Decreased fertility	2492	FSHR	ORPHA:243
HP:0000144	Decreased fertility	56945	MRPS22	ORPHA:243
HP:0000144	Decreased fertility	646	BNC1	ORPHA:243
HP:0000144	Decreased fertility	2778	GNAS	ORPHA:562
HP:0000144	Decreased fertility	57647	DHX37	ORPHA:983
HP:0000144	Decreased fertility	136647	MPLKIP	OMIM:234050
HP:0000144	Decreased fertility	367	AR	ORPHA:481
HP:0000144	Decreased fertility	367	AR	OMIM:313200
HP:0000144	Decreased fertility	54476	RNF216	ORPHA:1173
HP:0000144	Decreased fertility	10908	PNPLA6	ORPHA:1173
HP:0000144	Decreased fertility	10568	SLC34A2	ORPHA:60025
HP:0000144	Decreased fertility	93233	ODAD1	OMIM:615067
HP:0000144	Decreased fertility	1528	CYB5A	ORPHA:90796
HP:0000144	Decreased fertility	1586	CYP17A1	ORPHA:90796
HP:0000144	Decreased fertility	1586	CYP17A1	ORPHA:90793
HP:0000144	Decreased fertility	4000	LMNA	ORPHA:79474
HP:0000144	Decreased fertility	6716	SRD5A2	ORPHA:753
HP:0000144	Decreased fertility	2260	FGFR1	ORPHA:478
HP:0000144	Decreased fertility	10371	SEMA3A	ORPHA:478
HP:0000144	Decreased fertility	81848	SPRY4	ORPHA:478
HP:0000144	Decreased fertility	23767	FLRT3	ORPHA:478
HP:0000144	Decreased fertility	128674	PROKR2	ORPHA:478
HP:0000144	Decreased fertility	79625	NDNF	ORPHA:478
HP:0000144	Decreased fertility	2253	FGF8	ORPHA:478
HP:0000144	Decreased fertility	389549	FEZF1	ORPHA:478
HP:0000144	Decreased fertility	1630	DCC	ORPHA:478
HP:0000144	Decreased fertility	3730	ANOS1	ORPHA:478
HP:0000144	Decreased fertility	54756	IL17RD	ORPHA:478
HP:0000144	Decreased fertility	6663	SOX10	ORPHA:478
HP:0000144	Decreased fertility	285025	CCDC141	ORPHA:478
HP:0000144	Decreased fertility	60675	PROK2	ORPHA:478
HP:0000144	Decreased fertility	55636	CHD7	ORPHA:478
HP:0000144	Decreased fertility	1848	DUSP6	ORPHA:478
HP:0000144	Decreased fertility	6870	TACR3	ORPHA:478
HP:0000144	Decreased fertility	55717	WDR11	ORPHA:478
HP:0000144	Decreased fertility	9394	HS6ST1	ORPHA:478
HP:0000144	Decreased fertility	8820	HESX1	ORPHA:478
HP:0000144	Decreased fertility	8822	FGF17	ORPHA:478
HP:0000144	Decreased fertility	668	FOXL2	ORPHA:572333
HP:0000144	Decreased fertility	6926	TBX3	ORPHA:3138
HP:0000144	Decreased fertility	9563	H6PD	OMIM:604931
HP:0000144	Decreased fertility	3293	HSD17B3	ORPHA:752
HP:0000144	Decreased fertility	3293	HSD17B3	OMIM:264300
HP:0000144	Decreased fertility	148738	HJV	OMIM:602390
HP:0000144	Decreased fertility	2908	NR3C1	ORPHA:786
HP:0000144	Decreased fertility	2908	NR3C1	OMIM:615962
HP:0000144	Decreased fertility	7681	MKRN3	OMIM:176270
HP:0000144	Decreased fertility	3653	IPW	OMIM:176270
HP:0000144	Decreased fertility	54551	MAGEL2	OMIM:176270
HP:0000144	Decreased fertility	54551	MAGEL2	ORPHA:98754
HP:0000144	Decreased fertility	54551	MAGEL2	ORPHA:177904
HP:0000144	Decreased fertility	54551	MAGEL2	ORPHA:177901
HP:0000144	Decreased fertility	54551	MAGEL2	ORPHA:398069
HP:0000144	Decreased fertility	791114	PWRN1	OMIM:176270
HP:0000144	Decreased fertility	100033413	SNORD116-1	OMIM:176270
HP:0000144	Decreased fertility	8924	HERC2	OMIM:176270
HP:0000144	Decreased fertility	145624	PWAR1	OMIM:176270
HP:0000144	Decreased fertility	23742	NPAP1	OMIM:176270
HP:0000144	Decreased fertility	338433	SNORD115-1	OMIM:176270
HP:0000144	Decreased fertility	5626	PROP1	ORPHA:95494
HP:0000144	Decreased fertility	5626	PROP1	ORPHA:90695
HP:0000144	Decreased fertility	2736	GLI2	ORPHA:95494
HP:0000144	Decreased fertility	89884	LHX4	ORPHA:95494
HP:0000144	Decreased fertility	3170	FOXA2	ORPHA:95494
HP:0000144	Decreased fertility	5449	POU1F1	ORPHA:95494
HP:0000144	Decreased fertility	5015	OTX2	ORPHA:95494
HP:0000144	Decreased fertility	5346	PLIN1	ORPHA:280356
HP:0000144	Decreased fertility	6492	SIM1	ORPHA:398079
HP:0000144	Decreased fertility	57704	GBA2	ORPHA:320391
HP:0000144	Decreased fertility	57704	GBA2	OMIM:614409
HP:0000144	Decreased fertility	2488	FSHB	OMIM:229070
HP:0000144	Decreased fertility	6638	SNRPN	ORPHA:98754
HP:0000144	Decreased fertility	6638	SNRPN	ORPHA:177904
HP:0000144	Decreased fertility	6638	SNRPN	ORPHA:177901
HP:0000144	Decreased fertility	4692	NDN	ORPHA:98754
HP:0000144	Decreased fertility	4692	NDN	ORPHA:177904
HP:0000144	Decreased fertility	4692	NDN	ORPHA:177901
HP:0000144	Decreased fertility	4948	OCA2	ORPHA:98754
HP:0000144	Decreased fertility	4948	OCA2	ORPHA:177904
HP:0000144	Decreased fertility	4948	OCA2	ORPHA:177901
HP:0000144	Decreased fertility	353238	PADI6	OMIM:617234
HP:0000144	Decreased fertility	340719	NANOS1	OMIM:615413
HP:0000144	Decreased fertility	10273	STUB1	ORPHA:412057
HP:0000144	Decreased fertility	654	BMP6	ORPHA:465508
HP:0000144	Decreased fertility	3077	HFE	ORPHA:465508
HP:0000144	Decreased fertility	3117	HLA-DQA1	OMIM:212750
HP:0000144	Decreased fertility	3119	HLA-DQB1	OMIM:212750
HP:0000144	Decreased fertility	9723	SEMA3E	OMIM:146110
HP:0000144	Decreased fertility	558	AXL	OMIM:146110
HP:0000144	Decreased fertility	2798	GNRHR	OMIM:146110
HP:0000144	Decreased fertility	2796	GNRH1	OMIM:146110
HP:0000144	Decreased fertility	10011	SRA1	OMIM:146110
HP:0000144	Decreased fertility	84984	CEP19	OMIM:615703
HP:0000144	Decreased fertility	50846	DHH	ORPHA:168563
HP:0000144	Decreased fertility	6658	SOX3	ORPHA:90695
HP:0000144	Decreased fertility	10555	AGPAT2	OMIM:608594
HP:0000144	Decreased fertility	374407	DNAJB13	OMIM:617091
HP:0000144	Decreased fertility	374407	DNAJB13	ORPHA:244
HP:0000144	Decreased fertility	139212	DNAAF6	OMIM:300991
HP:0000144	Decreased fertility	139212	DNAAF6	ORPHA:244
HP:0000144	Decreased fertility	1497	CTNS	OMIM:219800
HP:0000144	Decreased fertility	84074	QRICH2	OMIM:618341
HP:0000144	Decreased fertility	10734	STAG3	OMIM:619672
HP:0000144	Decreased fertility	285498	RNF212	OMIM:619673
HP:0000144	Decreased fertility	124404	SEPTIN12	OMIM:614822
HP:0000144	Decreased fertility	11055	ZPBP	OMIM:619799
HP:0000144	Decreased fertility	144132	DNHD1	OMIM:619712
HP:0000144	Decreased fertility	83894	TTC29	OMIM:618745
HP:0000144	Decreased fertility	8556	CDC14A	OMIM:608653
HP:0000144	Decreased fertility	7258	TSPY1	ORPHA:1646
HP:0000144	Decreased fertility	57055	DAZ2	ORPHA:1646
HP:0000144	Decreased fertility	57055	DAZ2	OMIM:415000
HP:0000144	Decreased fertility	57135	DAZ4	ORPHA:1646
HP:0000144	Decreased fertility	8287	USP9Y	ORPHA:1646
HP:0000144	Decreased fertility	8287	USP9Y	OMIM:415000
HP:0000144	Decreased fertility	5940	RBMY1A1	ORPHA:1646
HP:0000144	Decreased fertility	5940	RBMY1A1	OMIM:415000
HP:0000144	Decreased fertility	57054	DAZ3	ORPHA:1646
HP:0000144	Decreased fertility	57054	DAZ3	OMIM:415000
HP:0000144	Decreased fertility	8653	DDX3Y	ORPHA:1646
HP:0000144	Decreased fertility	8653	DDX3Y	OMIM:415000
HP:0000144	Decreased fertility	1617	DAZ1	ORPHA:1646
HP:0000144	Decreased fertility	1617	DAZ1	OMIM:415000
HP:0000144	Decreased fertility	286464	CFAP47	OMIM:301059
HP:0000144	Decreased fertility	317719	KLHL10	OMIM:615081
HP:0000144	Decreased fertility	83449	PMFBP1	OMIM:618112
HP:0000144	Decreased fertility	83449	PMFBP1	ORPHA:529970
HP:0000144	Decreased fertility	317761	C14orf39	OMIM:619202
HP:0000144	Decreased fertility	79925	SPEF2	OMIM:618751
HP:0000144	Decreased fertility	79925	SPEF2	ORPHA:244
HP:0000144	Decreased fertility	402381	SOHLH1	OMIM:618115
HP:0000144	Decreased fertility	201134	CEP112	OMIM:619044
HP:0000144	Decreased fertility	122402	TDRD9	OMIM:618110
HP:0000144	Decreased fertility	146845	CFAP52	OMIM:619607
HP:0000144	Decreased fertility	140801	RPL10L	OMIM:619689
HP:0000144	Decreased fertility	56155	TEX14	OMIM:617707
HP:0000144	Decreased fertility	254528	MEIOB	OMIM:617706
HP:0000144	Decreased fertility	2592	GALT	ORPHA:79239
HP:0000144	Decreased fertility	2212	FCGR2A	OMIM:219700
HP:0000144	Decreased fertility	7040	TGFB1	OMIM:219700
HP:0000144	Decreased fertility	1080	CFTR	OMIM:219700
HP:0000144	Decreased fertility	1080	CFTR	OMIM:277180
HP:0000144	Decreased fertility	1080	CFTR	ORPHA:48
HP:0000144	Decreased fertility	10388	SYCP2	OMIM:258150
HP:0000144	Decreased fertility	286151	FBXO43	OMIM:619696
HP:0000144	Decreased fertility	8632	DNAH17	OMIM:618643
HP:0000144	Decreased fertility	140732	SUN5	ORPHA:529970
HP:0000144	Decreased fertility	140732	SUN5	OMIM:617187
HP:0000144	Decreased fertility	54970	TTC12	OMIM:618801
HP:0000144	Decreased fertility	54970	TTC12	ORPHA:244
HP:0000144	Decreased fertility	3973	LHCGR	ORPHA:3000
HP:0000144	Decreased fertility	80726	IQCN	OMIM:620170
HP:0000144	Decreased fertility	161497	STRC	ORPHA:94064
HP:0000144	Decreased fertility	161497	STRC	OMIM:611102
HP:0000144	Decreased fertility	161497	STRC	OMIM:612997
HP:0000144	Decreased fertility	117155	CATSPER2	ORPHA:94064
HP:0000144	Decreased fertility	117155	CATSPER2	OMIM:611102
HP:0000144	Decreased fertility	117155	CATSPER2	OMIM:612997
HP:0000144	Decreased fertility	6691	SPINK2	OMIM:618091
HP:0000144	Decreased fertility	6795	AURKC	OMIM:243060
HP:0000144	Decreased fertility	22873	DZIP1	OMIM:619102
HP:0000144	Decreased fertility	80705	TSGA10	OMIM:617961
HP:0000144	Decreased fertility	56154	TEX15	OMIM:617960
HP:0000144	Decreased fertility	10149	ADGRG2	OMIM:300985
HP:0000144	Decreased fertility	10149	ADGRG2	ORPHA:48
HP:0000144	Decreased fertility	269	AMHR2	OMIM:261550
HP:0000144	Decreased fertility	268	AMH	OMIM:261550
HP:0000144	Decreased fertility	80173	IFT74	OMIM:619585
HP:0000144	Decreased fertility	122481	AK7	OMIM:617965
HP:0000144	Decreased fertility	6845	VAMP7	ORPHA:251510
HP:0000144	Decreased fertility	51741	WWOX	ORPHA:251510
HP:0000144	Decreased fertility	4214	MAP3K1	ORPHA:251510
HP:0000144	Decreased fertility	7490	WT1	ORPHA:251510
HP:0000144	Decreased fertility	58524	DMRT3	ORPHA:251510
HP:0000144	Decreased fertility	23414	ZFPM2	ORPHA:251510
HP:0000144	Decreased fertility	190	NR0B1	ORPHA:251510
HP:0000144	Decreased fertility	2626	GATA4	ORPHA:251510
HP:0000144	Decreased fertility	130951	M1AP	OMIM:619108
HP:0000144	Decreased fertility	9082	XKRY	OMIM:415000
HP:0000144	Decreased fertility	8284	KDM5D	OMIM:415000
HP:0000144	Decreased fertility	442862	PRY2	OMIM:415000
HP:0000144	Decreased fertility	9081	PRY	OMIM:415000
HP:0000144	Decreased fertility	140032	RPS4Y2	OMIM:415000
HP:0000144	Decreased fertility	9426	CDY2A	OMIM:415000
HP:0000144	Decreased fertility	9083	BPY2	OMIM:415000
HP:0000144	Decreased fertility	86614	HSFY1	OMIM:415000
HP:0000144	Decreased fertility	9084	VCY	OMIM:415000
HP:0000144	Decreased fertility	9085	CDY1	OMIM:415000
HP:0000144	Decreased fertility	57728	WDR19	OMIM:619867
HP:0000144	Decreased fertility	1588	CYP19A1	ORPHA:91
HP:0000144	Decreased fertility	339829	CCDC39	OMIM:613807
HP:0000144	Decreased fertility	339829	CCDC39	ORPHA:244
HP:0000144	Decreased fertility	27019	DNAI1	OMIM:244400
HP:0000144	Decreased fertility	27019	DNAI1	ORPHA:244
HP:0000144	Decreased fertility	55012	PPP2R3C	OMIM:618420
HP:0000144	Decreased fertility	255101	CFAP65	OMIM:618664
HP:0000144	Decreased fertility	25981	DNAH1	OMIM:617576
HP:0000144	Decreased fertility	25981	DNAH1	ORPHA:244
HP:0000144	Decreased fertility	199223	TTC21A	OMIM:618429
HP:0000144	Decreased fertility	55329	MNS1	OMIM:618948
HP:0000144	Decreased fertility	89869	PLCZ1	OMIM:617214
HP:0000144	Decreased fertility	64446	DNAI2	OMIM:612444
HP:0000144	Decreased fertility	64446	DNAI2	ORPHA:244
HP:0000144	Decreased fertility	196385	DNAH10	OMIM:619515
HP:0000144	Decreased fertility	54456	MOV10L1	OMIM:619878
HP:0000144	Decreased fertility	8468	FKBP6	OMIM:620103
HP:0000144	Decreased fertility	92749	DRC1	OMIM:620222
HP:0000144	Decreased fertility	92749	DRC1	ORPHA:244
HP:0000144	Decreased fertility	4438	MSH4	OMIM:108420
HP:0000144	Decreased fertility	56159	TEX11	OMIM:309120
HP:0000144	Decreased fertility	84071	ARMC2	OMIM:618433
HP:0000144	Decreased fertility	144406	CFAP251	OMIM:618152
HP:0000144	Decreased fertility	401024	FSIP2	OMIM:618153
HP:0000144	Decreased fertility	118491	CFAP70	OMIM:618670
HP:0000144	Decreased fertility	154197	PNLDC1	OMIM:619528
HP:0000144	Decreased fertility	84660	CCDC62	OMIM:619803
HP:0000144	Decreased fertility	84225	ZMYND15	OMIM:615842
HP:0000144	Decreased fertility	54919	DNAAF5	OMIM:614874
HP:0000144	Decreased fertility	54919	DNAAF5	ORPHA:244
HP:0000144	Decreased fertility	151254	C2CD6	OMIM:619805
HP:0000144	Decreased fertility	145645	TERB2	OMIM:619645
HP:0000144	Decreased fertility	283847	TERB1	OMIM:619646
HP:0000144	Decreased fertility	85452	CFAP74	OMIM:620197
HP:0000144	Decreased fertility	157855	KCNU1	OMIM:620196
HP:0000144	Decreased fertility	146754	DNAH2	OMIM:619094
HP:0000144	Decreased fertility	91057	CCDC34	OMIM:620084
HP:0000144	Decreased fertility	1769	DNAH8	OMIM:619095
HP:0000144	Decreased fertility	55779	CFAP44	OMIM:617593
HP:0000144	Decreased fertility	80217	CFAP43	OMIM:617592
HP:0000144	Decreased fertility	284382	ACTL9	OMIM:619258
HP:0000144	Decreased fertility	375307	CATIP	OMIM:619379
HP:0000144	Decreased fertility	4439	MSH5	OMIM:619937
HP:0000144	Decreased fertility	9075	CLDN2	OMIM:301060
HP:0000144	Decreased fertility	283417	DPY19L2	OMIM:613958
HP:0000144	Decreased fertility	50511	SYCP3	OMIM:270960
HP:0000144	Decreased fertility	9247	GCM2	ORPHA:2239
HP:0000144	Decreased fertility	115948	ODAD3	ORPHA:244
HP:0000144	Decreased fertility	54768	HYDIN	ORPHA:244
HP:0000144	Decreased fertility	352909	DNAAF3	ORPHA:244
HP:0000144	Decreased fertility	27148	STK36	ORPHA:244
HP:0000144	Decreased fertility	51314	NME8	ORPHA:244
HP:0000144	Decreased fertility	152110	NEK10	ORPHA:244
HP:0000144	Decreased fertility	8481	OFD1	ORPHA:244
HP:0000144	Decreased fertility	2302	FOXJ1	ORPHA:244
HP:0000144	Decreased fertility	221421	RSPH9	ORPHA:244
HP:0000144	Decreased fertility	85478	CCDC65	ORPHA:244
HP:0000144	Decreased fertility	55036	CCDC40	ORPHA:244
HP:0000144	Decreased fertility	51364	ZMYND10	ORPHA:244
HP:0000144	Decreased fertility	6674	SPAG1	ORPHA:244
HP:0000144	Decreased fertility	83544	DNAL1	ORPHA:244
HP:0000144	Decreased fertility	89765	RSPH1	ORPHA:244
HP:0000144	Decreased fertility	83538	ODAD4	ORPHA:244
HP:0000144	Decreased fertility	200373	CFAP221	ORPHA:244
HP:0000144	Decreased fertility	55172	DNAAF2	ORPHA:244
HP:0000144	Decreased fertility	161582	DNAAF4	ORPHA:244
HP:0000144	Decreased fertility	2622	GAS8	ORPHA:244
HP:0000144	Decreased fertility	23639	DNAAF11	ORPHA:244
HP:0000144	Decreased fertility	23639	DNAAF11	OMIM:614935
HP:0000144	Decreased fertility	345895	RSPH4A	ORPHA:244
HP:0000144	Decreased fertility	6103	RPGR	ORPHA:244
HP:0000144	Decreased fertility	388389	CCDC103	ORPHA:244
HP:0000144	Decreased fertility	55130	ODAD2	ORPHA:244
HP:0000144	Decreased fertility	1767	DNAH5	ORPHA:244
HP:0000144	Decreased fertility	83861	RSPH3	ORPHA:244
HP:0000144	Decreased fertility	345643	MCIDAS	ORPHA:244
HP:0000144	Decreased fertility	56683	CFAP298	ORPHA:244
HP:0000144	Decreased fertility	10309	CCNO	ORPHA:244
HP:0000144	Decreased fertility	115399	LRRC56	ORPHA:244
HP:0000144	Decreased fertility	123872	DNAAF1	ORPHA:244
HP:0000144	Decreased fertility	85016	CFAP300	ORPHA:244
HP:0000144	Decreased fertility	8701	DNAH11	ORPHA:244
HP:0000144	Decreased fertility	1770	DNAH9	ORPHA:244
HP:0000144	Decreased fertility	246176	GAS2L2	ORPHA:244
HP:0000144	Decreased fertility	200162	SPAG17	OMIM:619380
HP:0000144	Decreased fertility	641	BLM	ORPHA:125
HP:0000144	Decreased fertility	93953	GCNA	OMIM:301077
HP:0000144	Decreased fertility	116369	SLC26A8	OMIM:606766
HP:0000144	Decreased fertility	159686	CFAP58	OMIM:619144
HP:0000144	Decreased fertility	199720	GGN	OMIM:619826
HP:0000144	Decreased fertility	676	BRDT	OMIM:617644
HP:0000144	Decreased fertility	93426	SYCE1	OMIM:616950
HP:0000144	Decreased fertility	158401	SHOC1	OMIM:619949
HP:0000144	Decreased fertility	5161	PDHA2	OMIM:619828
HP:0000144	Decreased fertility	117144	CATSPER1	OMIM:612997
HP:0000144	Decreased fertility	83893	SPATA16	OMIM:102530
HP:0000144	Decreased fertility	5604	MAP2K1	OMIM:163950
HP:0000144	Decreased fertility	347688	TUBB8	OMIM:616780
HP:0000144	Decreased fertility	347688	TUBB8	ORPHA:488191
HP:0000144	Decreased fertility	283677	REC114	OMIM:619176
HP:0000144	Decreased fertility	9319	TRIP13	OMIM:619011
HP:0000144	Decreased fertility	7784	ZP3	OMIM:617712
HP:0000144	Decreased fertility	5618	PRLR	OMIM:615555
HP:0000144	Decreased fertility	9453	GGPS1	OMIM:619518
HP:0000144	Decreased fertility	494551	WEE2	OMIM:617996
HP:0000144	Decreased fertility	494551	WEE2	ORPHA:488191
HP:0000144	Decreased fertility	22917	ZP1	OMIM:615774
HP:0000144	Decreased fertility	11077	HSF2BP	OMIM:619245
HP:0000144	Decreased fertility	150365	MEI1	OMIM:618431
HP:0000144	Decreased fertility	79703	TOP6BL	OMIM:618432
HP:0000144	Decreased fertility	431705	ASTL	OMIM:619643
HP:0000144	Decreased fertility	79983	POF1B	OMIM:300604
HP:0000144	Decreased fertility	24145	PANX1	OMIM:618550
HP:0000144	Decreased fertility	24145	PANX1	ORPHA:488191
HP:0000144	Decreased fertility	197135	PATL2	ORPHA:488191
HP:0000144	Decreased fertility	197135	PATL2	OMIM:617743
HP:0000144	Decreased fertility	7783	ZP2	OMIM:618353
HP:0000144	Decreased fertility	344018	FIGLA	OMIM:612310
HP:0000144	Decreased fertility	79816	TLE6	OMIM:616814
HP:0000144	Decreased fertility	54766	BTG4	OMIM:619009
HP:0000144	Decreased fertility	5241	PGR	OMIM:264080
HP:0000144	Decreased fertility	678	ZFP36L2	OMIM:620154
HP:0000144	Decreased fertility	64072	CDH23	ORPHA:91347
HP:0000144	Decreased fertility	64072	CDH23	ORPHA:2965
HP:0000144	Decreased fertility	4221	MEN1	ORPHA:2965
HP:0000144	Decreased fertility	9049	AIP	ORPHA:2965
HP:0000144	Decreased fertility	7840	ALMS1	ORPHA:64
HP:0000144	Decreased fertility	672	BRCA1	ORPHA:84
HP:0000144	Decreased fertility	10459	MAD2L2	ORPHA:84
HP:0000144	Decreased fertility	7516	XRCC2	ORPHA:84
HP:0000144	Decreased fertility	29089	UBE2T	ORPHA:84
HP:0000144	Decreased fertility	675	BRCA2	ORPHA:84
HP:0000144	Decreased fertility	55120	FANCL	ORPHA:84
HP:0000144	Decreased fertility	2177	FANCD2	ORPHA:84
HP:0000144	Decreased fertility	2175	FANCA	ORPHA:84
HP:0000144	Decreased fertility	2187	FANCB	ORPHA:84
HP:0000144	Decreased fertility	2176	FANCC	ORPHA:84
HP:0000144	Decreased fertility	2178	FANCE	ORPHA:84
HP:0000144	Decreased fertility	2188	FANCF	ORPHA:84
HP:0000144	Decreased fertility	2189	FANCG	ORPHA:84
HP:0000144	Decreased fertility	5888	RAD51	ORPHA:84
HP:0000144	Decreased fertility	5889	RAD51C	ORPHA:84
HP:0000144	Decreased fertility	55159	RFWD3	ORPHA:84
HP:0000144	Decreased fertility	83990	BRIP1	ORPHA:84
HP:0000144	Decreased fertility	57697	FANCM	ORPHA:84
HP:0000144	Decreased fertility	79728	PALB2	ORPHA:84
HP:0000144	Decreased fertility	84464	SLX4	ORPHA:84
HP:0000144	Decreased fertility	2072	ERCC4	ORPHA:84
HP:0000144	Decreased fertility	55215	FANCI	ORPHA:84
HP:0000144	Decreased fertility	3284	HSD3B2	ORPHA:90791
HP:0000144	Decreased fertility	5573	PRKAR1A	ORPHA:1359
HP:0000144	Decreased fertility	50940	PDE11A	ORPHA:1359
HP:0000145	Transverse vaginal septum	8195	MKKS	OMIM:236700
HP:0000145	Transverse vaginal septum	8626	TP63	OMIM:604292
HP:0000148	Vaginal atresia	7490	WT1	ORPHA:3097
HP:0000148	Vaginal atresia	51626	DYNC2LI1	OMIM:617088
HP:0000148	Vaginal atresia	341640	FREM2	ORPHA:2052
HP:0000148	Vaginal atresia	80144	FRAS1	ORPHA:2052
HP:0000148	Vaginal atresia	80144	FRAS1	OMIM:219000
HP:0000148	Vaginal atresia	23426	GRIP1	ORPHA:2052
HP:0000148	Vaginal atresia	8516	ITGA8	OMIM:191830
HP:0000148	Vaginal atresia	158326	FREM1	OMIM:248450
HP:0000148	Vaginal atresia	2625	GATA3	ORPHA:2237
HP:0000148	Vaginal atresia	9928	KIF14	OMIM:616258
HP:0000148	Vaginal atresia	9928	KIF14	OMIM:617914
HP:0000148	Vaginal atresia	5447	POR	OMIM:207410
HP:0000148	Vaginal atresia	2263	FGFR2	OMIM:207410
HP:0000148	Vaginal atresia	2263	FGFR2	OMIM:101200
HP:0000148	Vaginal atresia	166379	BBS12	OMIM:615989
HP:0000148	Vaginal atresia	8195	MKKS	OMIM:236700
HP:0000148	Vaginal atresia	8195	MKKS	OMIM:605231
HP:0000148	Vaginal atresia	84100	ARL6	OMIM:209900
HP:0000148	Vaginal atresia	79140	CCDC28B	OMIM:209900
HP:0000148	Vaginal atresia	582	BBS1	OMIM:209900
HP:0000148	Vaginal atresia	7473	WNT3	OMIM:273395
HP:0000148	Vaginal atresia	7473	WNT3	ORPHA:3301
HP:0000148	Vaginal atresia	340419	RSPO2	ORPHA:3301
HP:0000149	Ovarian gonadoblastoma	7490	WT1	OMIM:136680
HP:0000149	Ovarian gonadoblastoma	7490	WT1	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	7490	WT1	OMIM:194080
HP:0000149	Ovarian gonadoblastoma	6662	SOX9	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	6845	VAMP7	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	51741	WWOX	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	4214	MAP3K1	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	2516	NR5A1	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	58524	DMRT3	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	57647	DHX37	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	6736	SRY	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	23414	ZFPM2	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	190	NR0B1	ORPHA:251510
HP:0000149	Ovarian gonadoblastoma	2626	GATA4	ORPHA:251510
HP:0010366	Triangular shaped phalanges of the 3rd toe	9241	NOG	OMIM:186500
HP:0010369	Abnormality of the middle phalanx of the 3rd toe	285203	EOGT	OMIM:615297
HP:0007307	Rapid neurologic deterioration	285362	SUMF1	ORPHA:585
HP:0007307	Rapid neurologic deterioration	285362	SUMF1	OMIM:272200
HP:0007308	Extrapyramidal dyskinesia	38	ACAT1	ORPHA:134
HP:0007308	Extrapyramidal dyskinesia	80746	TSEN2	OMIM:612389
HP:0007308	Extrapyramidal dyskinesia	283989	TSEN54	OMIM:277470
HP:0007308	Extrapyramidal dyskinesia	1807	DPYS	OMIM:222748
HP:0007308	Extrapyramidal dyskinesia	203228	C9orf72	OMIM:105550
HP:0007308	Extrapyramidal dyskinesia	6513	SLC2A1	ORPHA:71277
HP:0030791	Abnormal jaw morphology	4626	MYH8	OMIM:158300
HP:0030791	Abnormal jaw morphology	4626	MYH8	OMIM:608837
HP:0030791	Abnormal jaw morphology	1280	COL2A1	OMIM:616583
HP:0030791	Abnormal jaw morphology	3977	LIFR	ORPHA:3206
HP:0030791	Abnormal jaw morphology	3747	KCNC2	OMIM:619913
HP:0030791	Abnormal jaw morphology	1909	EDNRA	OMIM:616367
HP:0030791	Abnormal jaw morphology	3339	HSPG2	ORPHA:800
HP:0030791	Abnormal jaw morphology	81570	CLPB	OMIM:616271
HP:0030791	Abnormal jaw morphology	112476	PRRT2	ORPHA:98810
HP:0030791	Abnormal jaw morphology	25953	PNKD	ORPHA:98810
HP:0030791	Abnormal jaw morphology	5295	PIK3R1	ORPHA:3163
HP:0030791	Abnormal jaw morphology	4853	NOTCH2	ORPHA:955
HP:0030791	Abnormal jaw morphology	3476	IGBP1	OMIM:300472
HP:0030791	Abnormal jaw morphology	3476	IGBP1	ORPHA:52055
HP:0030791	Abnormal jaw morphology	2294	FOXF1	OMIM:265380
HP:0030791	Abnormal jaw morphology	2077	ERF	OMIM:600775
HP:0030791	Abnormal jaw morphology	10262	SF3B4	OMIM:154400
HP:0030791	Abnormal jaw morphology	8367	H4C5	OMIM:619950
HP:0030791	Abnormal jaw morphology	10046	MAMLD1	ORPHA:456328
HP:0030791	Abnormal jaw morphology	4534	MTM1	ORPHA:456328
HP:0030791	Abnormal jaw morphology	8506	CNTNAP1	OMIM:618186
HP:0030791	Abnormal jaw morphology	8425	LTBP4	OMIM:613177
HP:0030791	Abnormal jaw morphology	10054	UBA2	OMIM:619959
HP:0030791	Abnormal jaw morphology	57539	WDR35	OMIM:613610
HP:0030791	Abnormal jaw morphology	81857	MED25	OMIM:616449
HP:0030791	Abnormal jaw morphology	81857	MED25	ORPHA:464738
HP:0030791	Abnormal jaw morphology	347734	SLC35B2	OMIM:620269
HP:0030791	Abnormal jaw morphology	2629	GBA1	OMIM:608013
HP:0030791	Abnormal jaw morphology	54968	TMEM70	ORPHA:1194
HP:0030791	Abnormal jaw morphology	80816	ASXL3	OMIM:615485
HP:0030791	Abnormal jaw morphology	6536	SLC6A9	OMIM:617301
HP:0030791	Abnormal jaw morphology	318	NUDT2	OMIM:619844
HP:0030791	Abnormal jaw morphology	129563	DIS3L2	ORPHA:2849
HP:0030791	Abnormal jaw morphology	9915	ARNT2	OMIM:615926
HP:0030791	Abnormal jaw morphology	29072	SETD2	OMIM:620157
HP:0030791	Abnormal jaw morphology	29072	SETD2	OMIM:620155
HP:0030791	Abnormal jaw morphology	26153	KIF26A	OMIM:620156
HP:0030791	Abnormal jaw morphology	25778	DSTYK	OMIM:270750
HP:0030791	Abnormal jaw morphology	3190	HNRNPK	OMIM:616580
HP:0030791	Abnormal jaw morphology	57492	ARID1B	OMIM:135900
HP:0030791	Abnormal jaw morphology	25885	POLR1A	OMIM:616462
HP:0030791	Abnormal jaw morphology	23184	MESD	OMIM:618644
HP:0030791	Abnormal jaw morphology	51319	RSRC1	OMIM:618402
HP:0030791	Abnormal jaw morphology	79184	BRCC3	ORPHA:280679
HP:0030791	Abnormal jaw morphology	7841	MOGS	OMIM:606056
HP:0030791	Abnormal jaw morphology	7841	MOGS	ORPHA:79330
HP:0030791	Abnormal jaw morphology	171023	ASXL1	ORPHA:97297
HP:0030791	Abnormal jaw morphology	171023	ASXL1	OMIM:605039
HP:0030791	Abnormal jaw morphology	652	BMP4	OMIM:607932
HP:0030791	Abnormal jaw morphology	8726	EED	OMIM:617561
HP:0030791	Abnormal jaw morphology	8726	EED	ORPHA:3447
HP:0030791	Abnormal jaw morphology	26053	AUTS2	ORPHA:352490
HP:0030791	Abnormal jaw morphology	84314	TMEM107	OMIM:617563
HP:0030791	Abnormal jaw morphology	56992	KIF15	OMIM:619981
HP:0030791	Abnormal jaw morphology	8550	MAPKAPK5	OMIM:619869
HP:0030791	Abnormal jaw morphology	1954	MEGF8	OMIM:614976
HP:0030791	Abnormal jaw morphology	89910	UBE3B	ORPHA:2707
HP:0030791	Abnormal jaw morphology	1906	EDN1	OMIM:615706
HP:0030791	Abnormal jaw morphology	4247	MGAT2	OMIM:212066
HP:0030791	Abnormal jaw morphology	54496	PRMT7	ORPHA:464288
HP:0030791	Abnormal jaw morphology	54496	PRMT7	OMIM:617157
HP:0030791	Abnormal jaw morphology	2200	FBN1	OMIM:616914
HP:0030791	Abnormal jaw morphology	2200	FBN1	ORPHA:2462
HP:0030791	Abnormal jaw morphology	2200	FBN1	OMIM:154700
HP:0030791	Abnormal jaw morphology	2200	FBN1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	23265	EXOC7	OMIM:619072
HP:0030791	Abnormal jaw morphology	9653	HS2ST1	OMIM:619194
HP:0030791	Abnormal jaw morphology	51633	OTUD6B	OMIM:617452
HP:0030791	Abnormal jaw morphology	51633	OTUD6B	ORPHA:505237
HP:0030791	Abnormal jaw morphology	1857	DVL3	ORPHA:3107
HP:0030791	Abnormal jaw morphology	7474	WNT5A	ORPHA:3107
HP:0030791	Abnormal jaw morphology	7474	WNT5A	OMIM:180700
HP:0030791	Abnormal jaw morphology	1855	DVL1	ORPHA:3107
HP:0030791	Abnormal jaw morphology	1855	DVL1	OMIM:180700
HP:0030791	Abnormal jaw morphology	2535	FZD2	ORPHA:3107
HP:0030791	Abnormal jaw morphology	6125	RPL5	OMIM:612561
HP:0030791	Abnormal jaw morphology	3481	IGF2	OMIM:616489
HP:0030791	Abnormal jaw morphology	9508	ADAMTS3	ORPHA:2136
HP:0030791	Abnormal jaw morphology	147372	CCBE1	ORPHA:2136
HP:0030791	Abnormal jaw morphology	147372	CCBE1	OMIM:235510
HP:0030791	Abnormal jaw morphology	79633	FAT4	ORPHA:2136
HP:0030791	Abnormal jaw morphology	9841	ZBTB24	OMIM:614069
HP:0030791	Abnormal jaw morphology	79770	TXNDC15	OMIM:619879
HP:0030791	Abnormal jaw morphology	8364	H4C3	OMIM:619758
HP:0030791	Abnormal jaw morphology	10290	SPEG	OMIM:615959
HP:0030791	Abnormal jaw morphology	10290	SPEG	ORPHA:169186
HP:0030791	Abnormal jaw morphology	58	ACTA1	OMIM:161800
HP:0030791	Abnormal jaw morphology	2138	EYA1	ORPHA:107
HP:0030791	Abnormal jaw morphology	2138	EYA1	OMIM:602588
HP:0030791	Abnormal jaw morphology	147912	SIX5	ORPHA:107
HP:0030791	Abnormal jaw morphology	6495	SIX1	ORPHA:107
HP:0030791	Abnormal jaw morphology	79228	THOC6	ORPHA:363444
HP:0030791	Abnormal jaw morphology	5159	PDGFRB	OMIM:601812
HP:0030791	Abnormal jaw morphology	27086	FOXP1	ORPHA:391372
HP:0030791	Abnormal jaw morphology	27086	FOXP1	OMIM:613670
HP:0030791	Abnormal jaw morphology	53335	BCL11A	OMIM:617101
HP:0030791	Abnormal jaw morphology	4784	NFIX	OMIM:614753
HP:0030791	Abnormal jaw morphology	4784	NFIX	OMIM:602535
HP:0030791	Abnormal jaw morphology	4784	NFIX	ORPHA:561
HP:0030791	Abnormal jaw morphology	163175	LGI4	OMIM:617468
HP:0030791	Abnormal jaw morphology	7025	NR2F1	OMIM:615722
HP:0030791	Abnormal jaw morphology	9993	DGCR2	OMIM:192430
HP:0030791	Abnormal jaw morphology	8220	ESS2	OMIM:192430
HP:0030791	Abnormal jaw morphology	8214	DGCR6	OMIM:192430
HP:0030791	Abnormal jaw morphology	54487	DGCR8	OMIM:192430
HP:0030791	Abnormal jaw morphology	6899	TBX1	OMIM:192430
HP:0030791	Abnormal jaw morphology	5422	POLA1	ORPHA:163976
HP:0030791	Abnormal jaw morphology	5422	POLA1	OMIM:301030
HP:0030791	Abnormal jaw morphology	388015	RTL1	ORPHA:96334
HP:0030791	Abnormal jaw morphology	388015	RTL1	ORPHA:254528
HP:0030791	Abnormal jaw morphology	8788	DLK1	ORPHA:96334
HP:0030791	Abnormal jaw morphology	8788	DLK1	ORPHA:254528
HP:0030791	Abnormal jaw morphology	55384	MEG3	ORPHA:96334
HP:0030791	Abnormal jaw morphology	55384	MEG3	ORPHA:254528
HP:0030791	Abnormal jaw morphology	91949	COG7	ORPHA:79333
HP:0030791	Abnormal jaw morphology	91949	COG7	OMIM:608779
HP:0030791	Abnormal jaw morphology	10667	FARS2	ORPHA:466722
HP:0030791	Abnormal jaw morphology	11128	POLR3A	ORPHA:3455
HP:0030791	Abnormal jaw morphology	23065	EMC1	ORPHA:480898
HP:0030791	Abnormal jaw morphology	23065	EMC1	OMIM:616875
HP:0030791	Abnormal jaw morphology	2556	GABRA3	OMIM:301091
HP:0030791	Abnormal jaw morphology	3187	HNRNPH1	OMIM:620083
HP:0030791	Abnormal jaw morphology	3930	LBR	OMIM:215140
HP:0030791	Abnormal jaw morphology	4920	ROR2	OMIM:268310
HP:0030791	Abnormal jaw morphology	5373	PMM2	ORPHA:79318
HP:0030791	Abnormal jaw morphology	4677	NARS1	OMIM:619092
HP:0030791	Abnormal jaw morphology	57479	PRR12	OMIM:619539
HP:0030791	Abnormal jaw morphology	729920	CRPPA	OMIM:614643
HP:0030791	Abnormal jaw morphology	4088	SMAD3	OMIM:613795
HP:0030791	Abnormal jaw morphology	4088	SMAD3	ORPHA:284984
HP:0030791	Abnormal jaw morphology	4088	SMAD3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2146	EZH2	OMIM:277590
HP:0030791	Abnormal jaw morphology	2146	EZH2	ORPHA:3447
HP:0030791	Abnormal jaw morphology	55835	CENPJ	OMIM:613676
HP:0030791	Abnormal jaw morphology	7048	TGFBR2	OMIM:610168
HP:0030791	Abnormal jaw morphology	7048	TGFBR2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	404672	GTF2H5	ORPHA:33364
HP:0030791	Abnormal jaw morphology	833	CARS1	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2068	ERCC2	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2068	ERCC2	OMIM:601675
HP:0030791	Abnormal jaw morphology	7737	RNF113A	ORPHA:33364
HP:0030791	Abnormal jaw morphology	136647	MPLKIP	ORPHA:33364
HP:0030791	Abnormal jaw morphology	136647	MPLKIP	OMIM:234050
HP:0030791	Abnormal jaw morphology	6897	TARS1	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2071	ERCC3	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2961	GTF2E2	ORPHA:33364
HP:0030791	Abnormal jaw morphology	79791	FBXO31	OMIM:615979
HP:0030791	Abnormal jaw morphology	1487	CTBP1	OMIM:617915
HP:0030791	Abnormal jaw morphology	64324	NSD1	ORPHA:3447
HP:0030791	Abnormal jaw morphology	23512	SUZ12	ORPHA:3447
HP:0030791	Abnormal jaw morphology	641	BLM	ORPHA:125
HP:0030791	Abnormal jaw morphology	10533	ATG7	OMIM:619422
HP:0030791	Abnormal jaw morphology	2033	EP300	OMIM:613684
HP:0030791	Abnormal jaw morphology	2033	EP300	OMIM:180849
HP:0030791	Abnormal jaw morphology	867	CBL	OMIM:613563
HP:0030791	Abnormal jaw morphology	7046	TGFBR1	OMIM:609192
HP:0030791	Abnormal jaw morphology	7046	TGFBR1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	51013	EXOSC1	OMIM:619304
HP:0030791	Abnormal jaw morphology	1642	DDB1	OMIM:619426
HP:0030791	Abnormal jaw morphology	6497	SKI	ORPHA:2462
HP:0030791	Abnormal jaw morphology	63895	PIEZO2	ORPHA:2461
HP:0030791	Abnormal jaw morphology	196528	ARID2	OMIM:617808
HP:0030791	Abnormal jaw morphology	27152	INTU	OMIM:617926
HP:0030791	Abnormal jaw morphology	389827	MYMK	OMIM:254940
HP:0030791	Abnormal jaw morphology	3720	JARID2	OMIM:620098
HP:0030791	Abnormal jaw morphology	274	BIN1	ORPHA:169186
HP:0030791	Abnormal jaw morphology	6261	RYR1	ORPHA:169186
HP:0030791	Abnormal jaw morphology	7273	TTN	ORPHA:169186
HP:0030791	Abnormal jaw morphology	8243	SMC1A	OMIM:301044
HP:0030791	Abnormal jaw morphology	1281	COL3A1	OMIM:618343
HP:0030791	Abnormal jaw morphology	10466	COG5	ORPHA:263487
HP:0030791	Abnormal jaw morphology	23013	SPEN	OMIM:619312
HP:0030791	Abnormal jaw morphology	30000	TNPO2	OMIM:619556
HP:0030791	Abnormal jaw morphology	1859	DYRK1A	ORPHA:268261
HP:0030791	Abnormal jaw morphology	54517	PUS7	OMIM:618342
HP:0030791	Abnormal jaw morphology	1305	COL13A1	OMIM:616720
HP:0030791	Abnormal jaw morphology	11133	KPTN	OMIM:615637
HP:0030791	Abnormal jaw morphology	79650	USB1	OMIM:604173
HP:0030791	Abnormal jaw morphology	55593	OTUD5	OMIM:301056
HP:0030791	Abnormal jaw morphology	56945	MRPS22	OMIM:611719
HP:0030791	Abnormal jaw morphology	55315	SLC29A3	OMIM:602782
HP:0030791	Abnormal jaw morphology	55869	HDAC8	OMIM:300882
HP:0030791	Abnormal jaw morphology	6492	SIM1	ORPHA:171829
HP:0030791	Abnormal jaw morphology	23291	FBXW11	OMIM:618914
HP:0030791	Abnormal jaw morphology	9662	CEP135	OMIM:614673
HP:0030791	Abnormal jaw morphology	4953	ODC1	ORPHA:544488
HP:0030791	Abnormal jaw morphology	5915	RARB	OMIM:615524
HP:0030791	Abnormal jaw morphology	2187	FANCB	ORPHA:3412
HP:0030791	Abnormal jaw morphology	5932	RBBP8	OMIM:251255
HP:0030791	Abnormal jaw morphology	79068	FTO	OMIM:612938
HP:0030791	Abnormal jaw morphology	3417	IDH1	ORPHA:99646
HP:0030791	Abnormal jaw morphology	16	AARS1	OMIM:619691
HP:0030791	Abnormal jaw morphology	55777	MBD5	OMIM:156200
HP:0030791	Abnormal jaw morphology	3039	HBA1	ORPHA:98791
HP:0030791	Abnormal jaw morphology	3040	HBA2	ORPHA:98791
HP:0030791	Abnormal jaw morphology	56915	EXOSC5	OMIM:619576
HP:0030791	Abnormal jaw morphology	2530	FUT8	OMIM:618005
HP:0030791	Abnormal jaw morphology	55906	ZC4H2	OMIM:314580
HP:0030791	Abnormal jaw morphology	23511	NUP188	OMIM:618804
HP:0030791	Abnormal jaw morphology	4000	LMNA	OMIM:212112
HP:0030791	Abnormal jaw morphology	4000	LMNA	ORPHA:740
HP:0030791	Abnormal jaw morphology	9719	ADAMTSL2	ORPHA:1901
HP:0030791	Abnormal jaw morphology	91647	ATPAF2	OMIM:604273
HP:0030791	Abnormal jaw morphology	2304	FOXE1	ORPHA:1226
HP:0030791	Abnormal jaw morphology	444	ASPH	OMIM:601552
HP:0030791	Abnormal jaw morphology	10943	MSL3	OMIM:301032
HP:0030791	Abnormal jaw morphology	372	ARCN1	OMIM:617164
HP:0030791	Abnormal jaw morphology	9758	FRMPD4	OMIM:300983
HP:0030791	Abnormal jaw morphology	79796	ALG9	OMIM:263210
HP:0030791	Abnormal jaw morphology	57511	COG6	OMIM:614576
HP:0030791	Abnormal jaw morphology	51729	WBP11	OMIM:619227
HP:0030791	Abnormal jaw morphology	5116	PCNT	OMIM:210720
HP:0030791	Abnormal jaw morphology	5116	PCNT	ORPHA:2637
HP:0030791	Abnormal jaw morphology	54551	MAGEL2	OMIM:615547
HP:0030791	Abnormal jaw morphology	139285	AMER1	ORPHA:2780
HP:0030791	Abnormal jaw morphology	6638	SNRPN	ORPHA:177907
HP:0030791	Abnormal jaw morphology	9244	CRLF1	OMIM:272430
HP:0030791	Abnormal jaw morphology	26040	SETBP1	ORPHA:798
HP:0030791	Abnormal jaw morphology	760	CA2	ORPHA:2785
HP:0030791	Abnormal jaw morphology	60	ACTB	OMIM:243310
HP:0030791	Abnormal jaw morphology	60	ACTB	ORPHA:2995
HP:0030791	Abnormal jaw morphology	9321	TRIP11	ORPHA:166272
HP:0030791	Abnormal jaw morphology	8943	AP3D1	OMIM:617050
HP:0030791	Abnormal jaw morphology	50814	NSDHL	OMIM:300831
HP:0030791	Abnormal jaw morphology	71	ACTG1	OMIM:614583
HP:0030791	Abnormal jaw morphology	71	ACTG1	ORPHA:2995
HP:0030791	Abnormal jaw morphology	57061	HYMAI	ORPHA:96191
HP:0030791	Abnormal jaw morphology	5325	PLAGL1	ORPHA:96191
HP:0030791	Abnormal jaw morphology	10526	IPO8	OMIM:619472
HP:0030791	Abnormal jaw morphology	29895	MYL11	OMIM:619110
HP:0030791	Abnormal jaw morphology	348180	CTU2	OMIM:618142
HP:0030791	Abnormal jaw morphology	10847	SRCAP	OMIM:619595
HP:0030791	Abnormal jaw morphology	340419	RSPO2	OMIM:618022
HP:0030791	Abnormal jaw morphology	5530	PPP3CA	OMIM:618265
HP:0030791	Abnormal jaw morphology	1387	CREBBP	OMIM:180849
HP:0030791	Abnormal jaw morphology	29957	SLC25A24	OMIM:612289
HP:0030791	Abnormal jaw morphology	79005	SCNM1	OMIM:620107
HP:0030791	Abnormal jaw morphology	54796	BNC2	ORPHA:93110
HP:0030791	Abnormal jaw morphology	25914	RTTN	ORPHA:468631
HP:0030791	Abnormal jaw morphology	10269	ZMPSTE24	ORPHA:740
HP:0030791	Abnormal jaw morphology	84172	POLR1B	ORPHA:861
HP:0030791	Abnormal jaw morphology	9533	POLR1C	ORPHA:861
HP:0030791	Abnormal jaw morphology	51082	POLR1D	ORPHA:861
HP:0030791	Abnormal jaw morphology	51082	POLR1D	OMIM:613717
HP:0030791	Abnormal jaw morphology	6949	TCOF1	ORPHA:861
HP:0030791	Abnormal jaw morphology	4927	NUP88	OMIM:618393
HP:0030791	Abnormal jaw morphology	7204	TRIO	OMIM:617061
HP:0030791	Abnormal jaw morphology	1718	DHCR24	ORPHA:35107
HP:0030791	Abnormal jaw morphology	2222	FDFT1	OMIM:618156
HP:0030791	Abnormal jaw morphology	8567	MADD	OMIM:619004
HP:0030791	Abnormal jaw morphology	374879	ZNF699	OMIM:619488
HP:0030791	Abnormal jaw morphology	440138	ALG11	ORPHA:280071
HP:0030791	Abnormal jaw morphology	9326	ZNHIT3	OMIM:260565
HP:0030791	Abnormal jaw morphology	1806	DPYD	ORPHA:1675
HP:0030791	Abnormal jaw morphology	55704	CCDC88A	OMIM:617507
HP:0030791	Abnormal jaw morphology	55717	WDR11	OMIM:620237
HP:0030791	Abnormal jaw morphology	118924	FRA10AC1	OMIM:620113
HP:0030791	Abnormal jaw morphology	6519	SLC3A1	ORPHA:163690
HP:0030791	Abnormal jaw morphology	9581	PREPL	ORPHA:163690
HP:0030791	Abnormal jaw morphology	22995	CEP152	OMIM:613823
HP:0030791	Abnormal jaw morphology	2273	FHL1	OMIM:300280
HP:0030791	Abnormal jaw morphology	7169	TPM2	OMIM:108120
HP:0030791	Abnormal jaw morphology	55252	ASXL2	OMIM:617190
HP:0030791	Abnormal jaw morphology	80267	EDEM3	OMIM:619493
HP:0030791	Abnormal jaw morphology	342035	GLDN	OMIM:617194
HP:0030791	Abnormal jaw morphology	200205	IBA57	OMIM:615330
HP:0030791	Abnormal jaw morphology	2733	GLE1	OMIM:611890
HP:0030791	Abnormal jaw morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0030791	Abnormal jaw morphology	5718	PSMD12	OMIM:617516
HP:0030791	Abnormal jaw morphology	3295	HSD17B4	OMIM:261515
HP:0030791	Abnormal jaw morphology	9757	KMT2B	OMIM:619934
HP:0030791	Abnormal jaw morphology	4683	NBN	ORPHA:647
HP:0030791	Abnormal jaw morphology	23522	KAT6B	ORPHA:3047
HP:0030791	Abnormal jaw morphology	26123	TCTN3	ORPHA:2753
HP:0030791	Abnormal jaw morphology	26123	TCTN3	OMIM:614815
HP:0030791	Abnormal jaw morphology	5286	PIK3C2A	ORPHA:557003
HP:0030791	Abnormal jaw morphology	6223	RPS19	OMIM:105650
HP:0030791	Abnormal jaw morphology	84842	HPDL	OMIM:619026
HP:0030791	Abnormal jaw morphology	8516	ITGA8	OMIM:191830
HP:0030791	Abnormal jaw morphology	375056	MIA3	OMIM:619269
HP:0030791	Abnormal jaw morphology	18	ABAT	OMIM:613163
HP:0030791	Abnormal jaw morphology	7043	TGFB3	OMIM:615582
HP:0030791	Abnormal jaw morphology	7043	TGFB3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	22827	PUF60	OMIM:615583
HP:0030791	Abnormal jaw morphology	523	ATP6V1A	OMIM:617403
HP:0030791	Abnormal jaw morphology	25871	NEPRO	OMIM:618853
HP:0030791	Abnormal jaw morphology	219844	HYLS1	ORPHA:2189
HP:0030791	Abnormal jaw morphology	374654	KIF7	ORPHA:2189
HP:0030791	Abnormal jaw morphology	7042	TGFB2	OMIM:614816
HP:0030791	Abnormal jaw morphology	7042	TGFB2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	3480	IGF1R	OMIM:270450
HP:0030791	Abnormal jaw morphology	4629	MYH11	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4015	LOX	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4087	SMAD2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4089	SMAD4	ORPHA:91387
HP:0030791	Abnormal jaw morphology	59	ACTA2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	5592	PRKG1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2301	FOXE3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4144	MAT2A	ORPHA:91387
HP:0030791	Abnormal jaw morphology	23493	HEY2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	8076	MFAP5	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4638	MYLK	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2006	ELN	ORPHA:91387
HP:0030791	Abnormal jaw morphology	1278	COL1A2	ORPHA:1899
HP:0030791	Abnormal jaw morphology	1277	COL1A1	ORPHA:1899
HP:0030791	Abnormal jaw morphology	50964	SOST	OMIM:269500
HP:0030791	Abnormal jaw morphology	50964	SOST	ORPHA:3416
HP:0030791	Abnormal jaw morphology	50964	SOST	OMIM:122860
HP:0030791	Abnormal jaw morphology	199857	ALG14	OMIM:619031
HP:0030791	Abnormal jaw morphology	8450	CUL4B	OMIM:300354
HP:0030791	Abnormal jaw morphology	2673	GFPT1	OMIM:608931
HP:0030791	Abnormal jaw morphology	1145	CHRNE	OMIM:608931
HP:0030791	Abnormal jaw morphology	6535	SLC6A8	OMIM:300352
HP:0030791	Abnormal jaw morphology	324	APC	ORPHA:261584
HP:0030791	Abnormal jaw morphology	51256	TBC1D7	OMIM:248000
HP:0030791	Abnormal jaw morphology	340533	NEXMIF	OMIM:300912
HP:0030791	Abnormal jaw morphology	1183	CLCN4	OMIM:300114
HP:0030791	Abnormal jaw morphology	9853	RUSC2	OMIM:617773
HP:0030791	Abnormal jaw morphology	54507	ADAMTSL4	ORPHA:1885
HP:0030791	Abnormal jaw morphology	23135	KDM6B	OMIM:618505
HP:0030791	Abnormal jaw morphology	5894	RAF1	OMIM:611554
HP:0030791	Abnormal jaw morphology	5894	RAF1	OMIM:611553
HP:0030791	Abnormal jaw morphology	55627	SMPD4	OMIM:618622
HP:0030791	Abnormal jaw morphology	3703	STT3A	OMIM:619714
HP:0030791	Abnormal jaw morphology	1788	DNMT3A	ORPHA:404443
HP:0030791	Abnormal jaw morphology	1161	ERCC8	ORPHA:90321
HP:0030791	Abnormal jaw morphology	1161	ERCC8	ORPHA:90322
HP:0030791	Abnormal jaw morphology	1161	ERCC8	OMIM:216400
HP:0030791	Abnormal jaw morphology	2072	ERCC4	ORPHA:90321
HP:0030791	Abnormal jaw morphology	2074	ERCC6	ORPHA:90321
HP:0030791	Abnormal jaw morphology	2074	ERCC6	ORPHA:90322
HP:0030791	Abnormal jaw morphology	2074	ERCC6	OMIM:133540
HP:0030791	Abnormal jaw morphology	2067	ERCC1	ORPHA:90322
HP:0030791	Abnormal jaw morphology	9401	RECQL4	OMIM:268400
HP:0030791	Abnormal jaw morphology	6840	SVIL	OMIM:619040
HP:0030791	Abnormal jaw morphology	4125	MAN2B1	ORPHA:309282
HP:0030791	Abnormal jaw morphology	4125	MAN2B1	OMIM:248500
HP:0030791	Abnormal jaw morphology	4983	OPHN1	OMIM:300486
HP:0030791	Abnormal jaw morphology	4983	OPHN1	ORPHA:137831
HP:0030791	Abnormal jaw morphology	10479	SLC9A6	OMIM:300243
HP:0030791	Abnormal jaw morphology	10479	SLC9A6	ORPHA:85278
HP:0030791	Abnormal jaw morphology	9578	CDC42BPB	OMIM:619841
HP:0030791	Abnormal jaw morphology	3020	H3-3A	OMIM:619720
HP:0030791	Abnormal jaw morphology	3021	H3-3B	OMIM:619721
HP:0030791	Abnormal jaw morphology	2314	FLII	ORPHA:819
HP:0030791	Abnormal jaw morphology	23096	IQSEC2	ORPHA:819
HP:0030791	Abnormal jaw morphology	10743	RAI1	ORPHA:819
HP:0030791	Abnormal jaw morphology	10743	RAI1	OMIM:182290
HP:0030791	Abnormal jaw morphology	10522	DEAF1	ORPHA:819
HP:0030791	Abnormal jaw morphology	10522	DEAF1	OMIM:615828
HP:0030791	Abnormal jaw morphology	55650	PIGV	OMIM:239300
HP:0030791	Abnormal jaw morphology	55650	PIGV	ORPHA:247262
HP:0030791	Abnormal jaw morphology	284403	WDR62	OMIM:604317
HP:0030791	Abnormal jaw morphology	84992	PIGY	ORPHA:247262
HP:0030791	Abnormal jaw morphology	84720	PIGO	ORPHA:247262
HP:0030791	Abnormal jaw morphology	93210	PGAP3	ORPHA:247262
HP:0030791	Abnormal jaw morphology	284098	PIGW	ORPHA:247262
HP:0030791	Abnormal jaw morphology	27315	PGAP2	ORPHA:247262
HP:0030791	Abnormal jaw morphology	9487	PIGL	ORPHA:247262
HP:0030791	Abnormal jaw morphology	535	ATP6V0A1	OMIM:619971
HP:0030791	Abnormal jaw morphology	55154	MSTO1	OMIM:617675
HP:0030791	Abnormal jaw morphology	8913	CACNA1G	OMIM:618087
HP:0030791	Abnormal jaw morphology	3899	AFF3	OMIM:619297
HP:0030791	Abnormal jaw morphology	7040	TGFB1	OMIM:131300
HP:0030791	Abnormal jaw morphology	56172	ANKH	OMIM:123000
HP:0030791	Abnormal jaw morphology	10555	AGPAT2	OMIM:608594
HP:0030791	Abnormal jaw morphology	10555	AGPAT2	ORPHA:528
HP:0030791	Abnormal jaw morphology	1193	CLIC2	ORPHA:324410
HP:0030791	Abnormal jaw morphology	2720	GLB1	OMIM:253010
HP:0030791	Abnormal jaw morphology	3340	NDST1	OMIM:616116
HP:0030791	Abnormal jaw morphology	79813	EHMT1	OMIM:610253
HP:0030791	Abnormal jaw morphology	93627	TBCK	ORPHA:488632
HP:0030791	Abnormal jaw morphology	2783	GNB2	OMIM:619503
HP:0030791	Abnormal jaw morphology	55623	THUMPD1	OMIM:619989
HP:0030791	Abnormal jaw morphology	79158	GNPTAB	OMIM:252600
HP:0030791	Abnormal jaw morphology	175	AGA	ORPHA:93
HP:0030791	Abnormal jaw morphology	3425	IDUA	OMIM:607016
HP:0030791	Abnormal jaw morphology	54345	SOX18	OMIM:137940
HP:0030791	Abnormal jaw morphology	1182	CLCN3	OMIM:619512
HP:0030791	Abnormal jaw morphology	388662	SLC6A17	ORPHA:457212
HP:0030791	Abnormal jaw morphology	388662	SLC6A17	OMIM:616269
HP:0030791	Abnormal jaw morphology	23126	POGZ	OMIM:616364
HP:0030791	Abnormal jaw morphology	3572	IL6ST	OMIM:619750
HP:0030791	Abnormal jaw morphology	55699	IARS2	OMIM:616007
HP:0030791	Abnormal jaw morphology	2332	FMR1	ORPHA:908
HP:0030791	Abnormal jaw morphology	2332	FMR1	ORPHA:449291
HP:0030791	Abnormal jaw morphology	2332	FMR1	OMIM:300624
HP:0030791	Abnormal jaw morphology	5593	PRKG2	OMIM:619636
HP:0030791	Abnormal jaw morphology	10907	TXNL4A	OMIM:608572
HP:0030791	Abnormal jaw morphology	55210	ATAD3A	ORPHA:496790
HP:0030791	Abnormal jaw morphology	55210	ATAD3A	OMIM:617183
HP:0030791	Abnormal jaw morphology	6558	SLC12A2	OMIM:619080
HP:0030791	Abnormal jaw morphology	56098	PCDHGC4	OMIM:619880
HP:0030791	Abnormal jaw morphology	4849	CNOT3	OMIM:618672
HP:0030791	Abnormal jaw morphology	6901	TAFAZZIN	OMIM:302060
HP:0030791	Abnormal jaw morphology	4221	MEN1	ORPHA:99725
HP:0030791	Abnormal jaw morphology	55343	SLC35C1	ORPHA:99843
HP:0030791	Abnormal jaw morphology	8643	PTCH2	ORPHA:377
HP:0030791	Abnormal jaw morphology	51684	SUFU	ORPHA:377
HP:0030791	Abnormal jaw morphology	2719	GPC3	ORPHA:373
HP:0030791	Abnormal jaw morphology	2719	GPC3	OMIM:312870
HP:0030791	Abnormal jaw morphology	7355	SLC35A2	OMIM:300896
HP:0030791	Abnormal jaw morphology	54941	RNF125	OMIM:616260
HP:0030791	Abnormal jaw morphology	10735	STAG2	ORPHA:521258
HP:0030791	Abnormal jaw morphology	6611	SMS	OMIM:309583
HP:0030791	Abnormal jaw morphology	6611	SMS	ORPHA:3063
HP:0030791	Abnormal jaw morphology	5781	PTPN11	OMIM:151100
HP:0030791	Abnormal jaw morphology	2702	GJA5	OMIM:612474
HP:0030791	Abnormal jaw morphology	2703	GJA8	OMIM:612474
HP:0030791	Abnormal jaw morphology	22907	DHX30	OMIM:617804
HP:0030791	Abnormal jaw morphology	8905	AP1S2	OMIM:304340
HP:0030791	Abnormal jaw morphology	8925	HERC1	OMIM:617011
HP:0030791	Abnormal jaw morphology	8925	HERC1	ORPHA:457359
HP:0030791	Abnormal jaw morphology	4038	LRP4	OMIM:614305
HP:0030791	Abnormal jaw morphology	8924	HERC2	OMIM:615516
HP:0030791	Abnormal jaw morphology	546	ATRX	OMIM:301040
HP:0030791	Abnormal jaw morphology	176	ACAN	OMIM:612813
HP:0030791	Abnormal jaw morphology	176	ACAN	OMIM:165800
HP:0030791	Abnormal jaw morphology	176	ACAN	ORPHA:171866
HP:0030791	Abnormal jaw morphology	4952	OCRL	ORPHA:534
HP:0030791	Abnormal jaw morphology	9179	AP4M1	OMIM:612936
HP:0030791	Abnormal jaw morphology	54808	DYM	OMIM:223800
HP:0030791	Abnormal jaw morphology	90161	HS6ST2	OMIM:301025
HP:0030791	Abnormal jaw morphology	4948	OCA2	ORPHA:98794
HP:0030791	Abnormal jaw morphology	4621	MYH3	OMIM:193700
HP:0030791	Abnormal jaw morphology	3756	KCNH1	OMIM:135500
HP:0030791	Abnormal jaw morphology	7965	AIMP2	OMIM:618006
HP:0030791	Abnormal jaw morphology	201163	FLCN	OMIM:610883
HP:0030791	Abnormal jaw morphology	9820	CUL7	OMIM:273750
HP:0030791	Abnormal jaw morphology	23389	MED13L	ORPHA:369891
HP:0030791	Abnormal jaw morphology	7136	TNNI2	OMIM:601680
HP:0030791	Abnormal jaw morphology	7703	PCGF2	OMIM:618371
HP:0030791	Abnormal jaw morphology	10524	KAT5	OMIM:619103
HP:0030791	Abnormal jaw morphology	54681	P4HTM	OMIM:618493
HP:0030791	Abnormal jaw morphology	10297	APC2	OMIM:617169
HP:0030791	Abnormal jaw morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030791	Abnormal jaw morphology	6023	RMRP	OMIM:607095
HP:0030791	Abnormal jaw morphology	9791	PTDSS1	OMIM:151050
HP:0030791	Abnormal jaw morphology	9791	PTDSS1	ORPHA:2658
HP:0030791	Abnormal jaw morphology	3643	INSR	OMIM:262190
HP:0030791	Abnormal jaw morphology	3643	INSR	ORPHA:769
HP:0030791	Abnormal jaw morphology	2290	FOXG1	ORPHA:261144
HP:0030791	Abnormal jaw morphology	6424	SFRP4	OMIM:265900
HP:0030791	Abnormal jaw morphology	2892	GRIA3	ORPHA:364028
HP:0030791	Abnormal jaw morphology	26580	BSCL2	OMIM:269700
HP:0030791	Abnormal jaw morphology	26580	BSCL2	ORPHA:528
HP:0030791	Abnormal jaw morphology	2588	GALNS	OMIM:253000
HP:0030791	Abnormal jaw morphology	51002	TPRKB	OMIM:617731
HP:0030791	Abnormal jaw morphology	285590	SH3PXD2B	ORPHA:137834
HP:0030791	Abnormal jaw morphology	4810	NHS	ORPHA:627
HP:0030791	Abnormal jaw morphology	6928	HNF1B	ORPHA:93111
HP:0030791	Abnormal jaw morphology	63932	STEEP1	OMIM:301013
HP:0030791	Abnormal jaw morphology	284252	KCTD1	OMIM:181270
HP:0030791	Abnormal jaw morphology	2893	GRIA4	OMIM:617864
HP:0030791	Abnormal jaw morphology	8292	COLQ	ORPHA:98915
HP:0030791	Abnormal jaw morphology	3913	LAMB2	ORPHA:98915
HP:0030791	Abnormal jaw morphology	4094	MAF	OMIM:601088
HP:0030791	Abnormal jaw morphology	5831	PYCR1	ORPHA:2078
HP:0030791	Abnormal jaw morphology	84081	NSRP1	OMIM:620001
HP:0030791	Abnormal jaw morphology	5468	PPARG	ORPHA:528
HP:0030791	Abnormal jaw morphology	284119	CAVIN1	ORPHA:528
HP:0030791	Abnormal jaw morphology	2353	FOS	ORPHA:528
HP:0030791	Abnormal jaw morphology	857	CAV1	ORPHA:528
HP:0030791	Abnormal jaw morphology	1795	DOCK3	OMIM:618292
HP:0030791	Abnormal jaw morphology	11141	IL1RAPL1	OMIM:300143
HP:0030791	Abnormal jaw morphology	3832	KIF11	OMIM:152950
HP:0030791	Abnormal jaw morphology	83452	RAB33B	OMIM:615222
HP:0030791	Abnormal jaw morphology	5567	PRKACB	OMIM:619143
HP:0030791	Abnormal jaw morphology	1460	CSNK2B	OMIM:618732
HP:0030791	Abnormal jaw morphology	84168	ANTXR1	ORPHA:2067
HP:0030791	Abnormal jaw morphology	57194	ATP10A	ORPHA:411515
HP:0030791	Abnormal jaw morphology	25886	POC1A	OMIM:614813
HP:0030791	Abnormal jaw morphology	2737	GLI3	ORPHA:672
HP:0030791	Abnormal jaw morphology	57190	SELENON	ORPHA:324604
HP:0030791	Abnormal jaw morphology	4625	MYH7	ORPHA:324604
HP:0030791	Abnormal jaw morphology	6134	RPL10	OMIM:300998
HP:0030791	Abnormal jaw morphology	6134	RPL10	ORPHA:459070
HP:0030791	Abnormal jaw morphology	286053	NSMCE2	OMIM:617253
HP:0030791	Abnormal jaw morphology	9871	SEC24D	OMIM:616294
HP:0030791	Abnormal jaw morphology	79868	ALG13	OMIM:300884
HP:0030791	Abnormal jaw morphology	5649	RELN	ORPHA:89844
HP:0030791	Abnormal jaw morphology	10300	KATNB1	ORPHA:89844
HP:0030791	Abnormal jaw morphology	54820	NDE1	ORPHA:89844
HP:0030791	Abnormal jaw morphology	55790	CSGALNACT1	OMIM:618870
HP:0030791	Abnormal jaw morphology	26224	FBXL3	OMIM:606220
HP:0030791	Abnormal jaw morphology	84068	SLC10A7	OMIM:618363
HP:0030791	Abnormal jaw morphology	8260	NAA10	OMIM:300855
HP:0030791	Abnormal jaw morphology	8260	NAA10	ORPHA:276432
HP:0030791	Abnormal jaw morphology	113189	CHST14	ORPHA:2953
HP:0030791	Abnormal jaw morphology	113189	CHST14	OMIM:601776
HP:0030791	Abnormal jaw morphology	29940	DSE	ORPHA:2953
HP:0030791	Abnormal jaw morphology	9692	PRORP	OMIM:619737
HP:0030791	Abnormal jaw morphology	7994	KAT6A	ORPHA:457193
HP:0030791	Abnormal jaw morphology	7994	KAT6A	OMIM:616268
HP:0030791	Abnormal jaw morphology	90993	CREB3L1	OMIM:616229
HP:0030791	Abnormal jaw morphology	9325	TRIP4	OMIM:616866
HP:0030791	Abnormal jaw morphology	1717	DHCR7	OMIM:270400
HP:0030791	Abnormal jaw morphology	1501	CTNND2	ORPHA:281
HP:0030791	Abnormal jaw morphology	9037	SEMA5A	ORPHA:281
HP:0030791	Abnormal jaw morphology	23327	NEDD4L	OMIM:617201
HP:0030791	Abnormal jaw morphology	23545	ATP6V0A2	OMIM:278250
HP:0030791	Abnormal jaw morphology	9419	CRIPT	OMIM:615789
HP:0030791	Abnormal jaw morphology	25942	SIN3A	OMIM:613406
HP:0030791	Abnormal jaw morphology	26005	C2CD3	OMIM:615948
HP:0030791	Abnormal jaw morphology	26005	C2CD3	ORPHA:434179
HP:0030791	Abnormal jaw morphology	59336	PRDM13	OMIM:619909
HP:0030791	Abnormal jaw morphology	23443	SLC35A3	OMIM:615553
HP:0030791	Abnormal jaw morphology	9894	TELO2	ORPHA:488642
HP:0030791	Abnormal jaw morphology	55165	CEP55	OMIM:236500
HP:0030791	Abnormal jaw morphology	10682	EBP	OMIM:300960
HP:0030791	Abnormal jaw morphology	23556	PIGN	ORPHA:280633
HP:0030791	Abnormal jaw morphology	2571	GAD1	OMIM:619124
HP:0030791	Abnormal jaw morphology	6872	TAF1	OMIM:300966
HP:0030791	Abnormal jaw morphology	55617	TASP1	OMIM:618950
HP:0030791	Abnormal jaw morphology	51305	KCNK9	OMIM:612292
HP:0030791	Abnormal jaw morphology	5075	PAX1	OMIM:615560
HP:0030791	Abnormal jaw morphology	8481	OFD1	OMIM:311200
HP:0030791	Abnormal jaw morphology	100506658	OCLN	OMIM:251290
HP:0030791	Abnormal jaw morphology	124583	CANT1	OMIM:251450
HP:0030791	Abnormal jaw morphology	7846	TUBA1A	ORPHA:171680
HP:0030791	Abnormal jaw morphology	153241	CEP120	OMIM:616300
HP:0030791	Abnormal jaw morphology	8565	YARS1	OMIM:619418
HP:0030791	Abnormal jaw morphology	9469	CHST3	OMIM:245600
HP:0030791	Abnormal jaw morphology	26229	B3GAT3	OMIM:245600
HP:0030791	Abnormal jaw morphology	26173	INTS1	OMIM:618571
HP:0030791	Abnormal jaw morphology	2248	FGF3	ORPHA:2791
HP:0030791	Abnormal jaw morphology	7291	TWIST1	ORPHA:794
HP:0030791	Abnormal jaw morphology	7291	TWIST1	OMIM:101400
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:794
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:123500
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:87
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:207
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:101400
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:1540
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:101600
HP:0030791	Abnormal jaw morphology	2261	FGFR3	ORPHA:794
HP:0030791	Abnormal jaw morphology	2261	FGFR3	ORPHA:93262
HP:0030791	Abnormal jaw morphology	5573	PRKAR1A	ORPHA:950
HP:0030791	Abnormal jaw morphology	5573	PRKAR1A	OMIM:101800
HP:0030791	Abnormal jaw morphology	5144	PDE4D	ORPHA:950
HP:0030791	Abnormal jaw morphology	5144	PDE4D	ORPHA:439822
HP:0030791	Abnormal jaw morphology	2245	FGD1	OMIM:305400
HP:0030791	Abnormal jaw morphology	2245	FGD1	ORPHA:915
HP:0030791	Abnormal jaw morphology	10617	STAMBP	OMIM:614261
HP:0030791	Abnormal jaw morphology	22856	CHSY1	ORPHA:363417
HP:0030791	Abnormal jaw morphology	26128	KIFBP	OMIM:609460
HP:0030791	Abnormal jaw morphology	5077	PAX3	ORPHA:1529
HP:0030791	Abnormal jaw morphology	5077	PAX3	OMIM:122880
HP:0030791	Abnormal jaw morphology	10992	SF3B2	OMIM:164210
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:604292
HP:0030791	Abnormal jaw morphology	8626	TP63	ORPHA:199306
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:106260
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:129400
HP:0030791	Abnormal jaw morphology	10084	PQBP1	ORPHA:93950
HP:0030791	Abnormal jaw morphology	10084	PQBP1	ORPHA:93945
HP:0030791	Abnormal jaw morphology	5308	PITX2	ORPHA:782
HP:0030791	Abnormal jaw morphology	5308	PITX2	OMIM:180500
HP:0030791	Abnormal jaw morphology	2296	FOXC1	ORPHA:782
HP:0030791	Abnormal jaw morphology	7314	UBB	ORPHA:99772
HP:0030791	Abnormal jaw morphology	57822	GRHL3	ORPHA:99772
HP:0030791	Abnormal jaw morphology	4054	LTBP3	OMIM:601216
HP:0030791	Abnormal jaw morphology	650	BMP2	ORPHA:261295
HP:0030791	Abnormal jaw morphology	91179	SCARF2	OMIM:600920
HP:0030791	Abnormal jaw morphology	6651	SON	OMIM:617140
HP:0030791	Abnormal jaw morphology	6651	SON	ORPHA:500150
HP:0030791	Abnormal jaw morphology	4487	MSX1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	5818	NECTIN1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	1739	DLG1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	999	CDH1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	5156	PDGFRA	ORPHA:199306
HP:0030791	Abnormal jaw morphology	3664	IRF6	ORPHA:199306
HP:0030791	Abnormal jaw morphology	9411	ARHGAP29	ORPHA:199306
HP:0030791	Abnormal jaw morphology	1748	DLX4	ORPHA:199306
HP:0030791	Abnormal jaw morphology	25782	RAB3GAP2	OMIM:212720
HP:0030791	Abnormal jaw morphology	51114	ZDHHC9	ORPHA:776
HP:0030791	Abnormal jaw morphology	65109	UPF3B	ORPHA:776
HP:0030791	Abnormal jaw morphology	65109	UPF3B	OMIM:300676
HP:0030791	Abnormal jaw morphology	9968	MED12	ORPHA:776
HP:0030791	Abnormal jaw morphology	9968	MED12	OMIM:309520
HP:0030791	Abnormal jaw morphology	64135	IFIH1	OMIM:182250
HP:0030791	Abnormal jaw morphology	1896	EDA	OMIM:305100
HP:0030791	Abnormal jaw morphology	10484	SEC23A	ORPHA:50814
HP:0030791	Abnormal jaw morphology	29920	PYCR2	ORPHA:481152
HP:0030791	Abnormal jaw morphology	92344	GORAB	OMIM:231070
HP:0030791	Abnormal jaw morphology	2317	FLNB	OMIM:108721
HP:0030791	Abnormal jaw morphology	3759	KCNJ2	OMIM:170390
HP:0030791	Abnormal jaw morphology	3759	KCNJ2	ORPHA:37553
HP:0030791	Abnormal jaw morphology	1009	CDH11	OMIM:211380
HP:0030791	Abnormal jaw morphology	1009	CDH11	ORPHA:1299
HP:0030791	Abnormal jaw morphology	157680	VPS13B	OMIM:216550
HP:0030791	Abnormal jaw morphology	157680	VPS13B	ORPHA:193
HP:0030791	Abnormal jaw morphology	1301	COL11A1	ORPHA:560
HP:0030791	Abnormal jaw morphology	633	BGN	OMIM:300106
HP:0030791	Abnormal jaw morphology	8642	DCHS1	OMIM:601390
HP:0030791	Abnormal jaw morphology	8642	DCHS1	ORPHA:314679
HP:0030791	Abnormal jaw morphology	2239	GPC4	ORPHA:2662
HP:0030791	Abnormal jaw morphology	9343	EFTUD2	ORPHA:79113
HP:0030791	Abnormal jaw morphology	2697	GJA1	OMIM:257850
HP:0030791	Abnormal jaw morphology	81794	ADAMTS10	OMIM:277600
HP:0030791	Abnormal jaw morphology	6197	RPS6KA3	ORPHA:192
HP:0030791	Abnormal jaw morphology	55621	TRMT1	OMIM:618302
HP:0030791	Abnormal jaw morphology	3590	IL11RA	OMIM:614188
HP:0030791	Abnormal jaw morphology	8092	ALX1	ORPHA:306542
HP:0030791	Abnormal jaw morphology	145173	B3GLCT	OMIM:261540
HP:0030791	Abnormal jaw morphology	117581	TWIST2	OMIM:209885
HP:0030791	Abnormal jaw morphology	117581	TWIST2	ORPHA:920
HP:0030791	Abnormal jaw morphology	7337	UBE3A	OMIM:105830
HP:0030791	Abnormal jaw morphology	54499	TMCO1	OMIM:213980
HP:0030791	Abnormal jaw morphology	415	ARSL	ORPHA:79345
HP:0030791	Abnormal jaw morphology	5728	PTEN	OMIM:158350
HP:0030791	Abnormal jaw morphology	51715	RAB23	OMIM:201000
HP:0030791	Abnormal jaw morphology	8242	KDM5C	OMIM:300534
HP:0030791	Abnormal jaw morphology	8242	KDM5C	ORPHA:85279
HP:0030791	Abnormal jaw morphology	2260	FGFR1	OMIM:166250
HP:0030791	Abnormal jaw morphology	2260	FGFR1	OMIM:101600
HP:0030791	Abnormal jaw morphology	4313	MMP2	OMIM:259600
HP:0030791	Abnormal jaw morphology	1513	CTSK	ORPHA:763
HP:0030791	Abnormal jaw morphology	257	ALX3	OMIM:136760
HP:0030791	Abnormal jaw morphology	257	ALX3	ORPHA:391474
HP:0030791	Abnormal jaw morphology	23102	TBC1D2B	ORPHA:397973
HP:0030791	Abnormal jaw morphology	860	RUNX2	OMIM:156510
HP:0030791	Abnormal jaw morphology	54101	RIPK4	OMIM:263650
HP:0030791	Abnormal jaw morphology	5566	PRKACA	OMIM:619142
HP:0030791	Abnormal jaw morphology	80169	CTC1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	26277	TINF2	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55651	NHP2	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55135	WRAP53	ORPHA:1775
HP:0030791	Abnormal jaw morphology	51750	RTEL1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	4869	NPM1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7012	TERC	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55505	NOP10	ORPHA:1775
HP:0030791	Abnormal jaw morphology	5073	PARN	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7015	TERT	ORPHA:1775
HP:0030791	Abnormal jaw morphology	1736	DKC1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7298	TYMS	ORPHA:1775
HP:0030791	Abnormal jaw morphology	10844	TUBGCP2	OMIM:618737
HP:0030791	Abnormal jaw morphology	529	ATP6V1E1	OMIM:617402
HP:0030791	Abnormal jaw morphology	5290	PIK3CA	OMIM:615108
HP:0030791	Abnormal jaw morphology	207	AKT1	OMIM:615109
HP:0030791	Abnormal jaw morphology	9935	MAFB	OMIM:166300
HP:0030791	Abnormal jaw morphology	3762	KCNJ5	ORPHA:37553
HP:0030791	Abnormal jaw morphology	865	CBFB	OMIM:620099
HP:0030791	Abnormal jaw morphology	9990	SLC12A6	OMIM:218000
HP:0030791	Abnormal jaw morphology	4897	NRCAM	OMIM:619833
HP:0030791	Abnormal jaw morphology	1134	CHRNA1	OMIM:608930
HP:0030791	Abnormal jaw morphology	1134	CHRNA1	OMIM:253290
HP:0030791	Abnormal jaw morphology	55209	SETD5	ORPHA:404440
HP:0030791	Abnormal jaw morphology	55209	SETD5	OMIM:615761
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:56304
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	OMIM:256050
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:93298
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:628
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:93307
HP:0030791	Abnormal jaw morphology	6662	SOX9	ORPHA:140
HP:0030791	Abnormal jaw morphology	6662	SOX9	OMIM:114290
HP:0030791	Abnormal jaw morphology	6662	SOX9	ORPHA:718
HP:0030791	Abnormal jaw morphology	2073	ERCC5	OMIM:616570
HP:0030791	Abnormal jaw morphology	2073	ERCC5	ORPHA:1466
HP:0030791	Abnormal jaw morphology	27245	AHDC1	ORPHA:412069
HP:0030791	Abnormal jaw morphology	27245	AHDC1	OMIM:615829
HP:0030791	Abnormal jaw morphology	23426	GRIP1	OMIM:617667
HP:0030791	Abnormal jaw morphology	5184	PEPD	OMIM:170100
HP:0030791	Abnormal jaw morphology	5184	PEPD	ORPHA:742
HP:0030791	Abnormal jaw morphology	57082	KNL1	OMIM:604321
HP:0030791	Abnormal jaw morphology	54453	RIN2	OMIM:613075
HP:0030791	Abnormal jaw morphology	1020	CDK5	OMIM:616342
HP:0030791	Abnormal jaw morphology	79029	AFG2B	OMIM:619616
HP:0030791	Abnormal jaw morphology	64359	NXN	OMIM:618529
HP:0030791	Abnormal jaw morphology	64359	NXN	ORPHA:1507
HP:0030791	Abnormal jaw morphology	55681	SCYL2	OMIM:618766
HP:0030791	Abnormal jaw morphology	55681	SCYL2	ORPHA:1143
HP:0030791	Abnormal jaw morphology	4604	MYBPC1	OMIM:618524
HP:0030791	Abnormal jaw morphology	5191	PEX7	OMIM:215100
HP:0030791	Abnormal jaw morphology	11285	B4GALT7	OMIM:130070
HP:0030791	Abnormal jaw morphology	26038	CHD5	OMIM:619873
HP:0030791	Abnormal jaw morphology	5034	P4HB	OMIM:112240
HP:0030791	Abnormal jaw morphology	5034	P4HB	ORPHA:2050
HP:0030791	Abnormal jaw morphology	6905	TBCE	OMIM:241410
HP:0030791	Abnormal jaw morphology	6905	TBCE	ORPHA:2323
HP:0030791	Abnormal jaw morphology	9091	PIGQ	OMIM:618548
HP:0030791	Abnormal jaw morphology	8818	DPM2	OMIM:615042
HP:0030791	Abnormal jaw morphology	8818	DPM2	ORPHA:329178
HP:0030791	Abnormal jaw morphology	4285	MIPEP	OMIM:617228
HP:0030791	Abnormal jaw morphology	79971	WLS	OMIM:619648
HP:0030791	Abnormal jaw morphology	23483	TGDS	OMIM:616145
HP:0030791	Abnormal jaw morphology	23483	TGDS	ORPHA:1388
HP:0030791	Abnormal jaw morphology	64919	BCL11B	OMIM:617237
HP:0030791	Abnormal jaw morphology	25836	NIPBL	OMIM:122470
HP:0030791	Abnormal jaw morphology	25836	NIPBL	ORPHA:199
HP:0030791	Abnormal jaw morphology	6885	MAP3K7	ORPHA:1826
HP:0030791	Abnormal jaw morphology	6135	RPL11	ORPHA:124
HP:0030791	Abnormal jaw morphology	6138	RPL15	ORPHA:124
HP:0030791	Abnormal jaw morphology	6229	RPS24	ORPHA:124
HP:0030791	Abnormal jaw morphology	6204	RPS10	ORPHA:124
HP:0030791	Abnormal jaw morphology	6224	RPS20	ORPHA:124
HP:0030791	Abnormal jaw morphology	6165	RPL35A	ORPHA:124
HP:0030791	Abnormal jaw morphology	2623	GATA1	ORPHA:124
HP:0030791	Abnormal jaw morphology	6232	RPS27	ORPHA:124
HP:0030791	Abnormal jaw morphology	6231	RPS26	ORPHA:124
HP:0030791	Abnormal jaw morphology	6231	RPS26	OMIM:613309
HP:0030791	Abnormal jaw morphology	11224	RPL35	ORPHA:124
HP:0030791	Abnormal jaw morphology	6160	RPL31	ORPHA:124
HP:0030791	Abnormal jaw morphology	6218	RPS17	ORPHA:124
HP:0030791	Abnormal jaw morphology	6201	RPS7	ORPHA:124
HP:0030791	Abnormal jaw morphology	6155	RPL27	ORPHA:124
HP:0030791	Abnormal jaw morphology	6154	RPL26	ORPHA:124
HP:0030791	Abnormal jaw morphology	6210	RPS15A	ORPHA:124
HP:0030791	Abnormal jaw morphology	90121	TSR2	ORPHA:124
HP:0030791	Abnormal jaw morphology	90121	TSR2	OMIM:300946
HP:0030791	Abnormal jaw morphology	6141	RPL18	ORPHA:124
HP:0030791	Abnormal jaw morphology	6235	RPS29	ORPHA:124
HP:0030791	Abnormal jaw morphology	6234	RPS28	ORPHA:124
HP:0030791	Abnormal jaw morphology	6234	RPS28	OMIM:606164
HP:0030791	Abnormal jaw morphology	51816	ADA2	ORPHA:124
HP:0030791	Abnormal jaw morphology	25970	SH2B1	ORPHA:261197
HP:0030791	Abnormal jaw morphology	9742	IFT140	OMIM:266920
HP:0030791	Abnormal jaw morphology	5881	RAC3	OMIM:618577
HP:0030791	Abnormal jaw morphology	9427	ECEL1	OMIM:615065
HP:0030791	Abnormal jaw morphology	5426	POLE	OMIM:618336
HP:0030791	Abnormal jaw morphology	5081	PAX7	OMIM:618578
HP:0030791	Abnormal jaw morphology	5813	PURA	ORPHA:314655
HP:0030791	Abnormal jaw morphology	9949	AMMECR1	OMIM:300990
HP:0030791	Abnormal jaw morphology	3479	IGF1	ORPHA:73272
HP:0030791	Abnormal jaw morphology	3479	IGF1	OMIM:608747
HP:0030791	Abnormal jaw morphology	4921	DDR2	OMIM:271665
HP:0030791	Abnormal jaw morphology	9488	PIGB	OMIM:618580
HP:0030791	Abnormal jaw morphology	8573	CASK	OMIM:300749
HP:0030791	Abnormal jaw morphology	8573	CASK	ORPHA:163937
HP:0030791	Abnormal jaw morphology	79912	PYROXD1	OMIM:617258
HP:0030791	Abnormal jaw morphology	1798	DPAGT1	OMIM:608093
HP:0030791	Abnormal jaw morphology	57122	NUP107	OMIM:618348
HP:0030791	Abnormal jaw morphology	57122	NUP107	ORPHA:2065
HP:0030791	Abnormal jaw morphology	57122	NUP107	OMIM:616730
HP:0030791	Abnormal jaw morphology	27125	AFF4	ORPHA:444077
HP:0030791	Abnormal jaw morphology	10733	PLK4	OMIM:616171
HP:0030791	Abnormal jaw morphology	10733	PLK4	ORPHA:808
HP:0030791	Abnormal jaw morphology	2972	BRF1	ORPHA:444072
HP:0030791	Abnormal jaw morphology	91754	NEK9	OMIM:617022
HP:0030791	Abnormal jaw morphology	23114	NFASC	OMIM:618356
HP:0030791	Abnormal jaw morphology	29954	POMT2	OMIM:236670
HP:0030791	Abnormal jaw morphology	9215	LARGE1	OMIM:236670
HP:0030791	Abnormal jaw morphology	79147	FKRP	OMIM:236670
HP:0030791	Abnormal jaw morphology	10585	POMT1	OMIM:236670
HP:0030791	Abnormal jaw morphology	2218	FKTN	OMIM:236670
HP:0030791	Abnormal jaw morphology	473	RERE	ORPHA:494344
HP:0030791	Abnormal jaw morphology	473	RERE	OMIM:616975
HP:0030791	Abnormal jaw morphology	5980	REV3L	ORPHA:570
HP:0030791	Abnormal jaw morphology	23129	PLXND1	ORPHA:570
HP:0030791	Abnormal jaw morphology	51132	RLIM	OMIM:300978
HP:0030791	Abnormal jaw morphology	63925	ZNF335	OMIM:615095
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	OMIM:600118
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	ORPHA:2510
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	ORPHA:1387
HP:0030791	Abnormal jaw morphology	51434	ANAPC7	OMIM:619699
HP:0030791	Abnormal jaw morphology	92255	LMBRD2	OMIM:619694
HP:0030791	Abnormal jaw morphology	7468	NSD2	OMIM:619695
HP:0030791	Abnormal jaw morphology	7468	NSD2	OMIM:194190
HP:0030791	Abnormal jaw morphology	7468	NSD2	ORPHA:280
HP:0030791	Abnormal jaw morphology	1312	COMT	ORPHA:567
HP:0030791	Abnormal jaw morphology	221037	JMJD1C	ORPHA:567
HP:0030791	Abnormal jaw morphology	2812	GP1BB	ORPHA:567
HP:0030791	Abnormal jaw morphology	6239	RREB1	ORPHA:567
HP:0030791	Abnormal jaw morphology	7290	HIRA	ORPHA:567
HP:0030791	Abnormal jaw morphology	9632	SEC24C	ORPHA:567
HP:0030791	Abnormal jaw morphology	7353	UFD1	ORPHA:567
HP:0030791	Abnormal jaw morphology	421	ARVCF	ORPHA:567
HP:0030791	Abnormal jaw morphology	538	ATP7A	ORPHA:565
HP:0030791	Abnormal jaw morphology	79867	TCTN2	ORPHA:564
HP:0030791	Abnormal jaw morphology	80776	B9D2	ORPHA:564
HP:0030791	Abnormal jaw morphology	79600	TCTN1	ORPHA:564
HP:0030791	Abnormal jaw morphology	57096	RPGRIP1	ORPHA:564
HP:0030791	Abnormal jaw morphology	79848	CSPP1	ORPHA:564
HP:0030791	Abnormal jaw morphology	79848	CSPP1	ORPHA:397715
HP:0030791	Abnormal jaw morphology	80184	CEP290	ORPHA:564
HP:0030791	Abnormal jaw morphology	51259	TMEM216	ORPHA:564
HP:0030791	Abnormal jaw morphology	51259	TMEM216	ORPHA:2754
HP:0030791	Abnormal jaw morphology	57545	CC2D2A	ORPHA:564
HP:0030791	Abnormal jaw morphology	79583	TMEM231	ORPHA:564
HP:0030791	Abnormal jaw morphology	91147	TMEM67	ORPHA:564
HP:0030791	Abnormal jaw morphology	27077	B9D1	ORPHA:564
HP:0030791	Abnormal jaw morphology	23322	RPGRIP1L	ORPHA:564
HP:0030791	Abnormal jaw morphology	54903	MKS1	ORPHA:564
HP:0030791	Abnormal jaw morphology	54903	MKS1	OMIM:249000
HP:0030791	Abnormal jaw morphology	65062	TMEM237	ORPHA:564
HP:0030791	Abnormal jaw morphology	7317	UBA1	OMIM:301830
HP:0030791	Abnormal jaw morphology	3188	HNRNPH2	OMIM:300986
HP:0030791	Abnormal jaw morphology	4613	MYCN	OMIM:164280
HP:0030791	Abnormal jaw morphology	4613	MYCN	ORPHA:391641
HP:0030791	Abnormal jaw morphology	4593	MUSK	ORPHA:994
HP:0030791	Abnormal jaw morphology	4593	MUSK	OMIM:208150
HP:0030791	Abnormal jaw morphology	5913	RAPSN	ORPHA:994
HP:0030791	Abnormal jaw morphology	5913	RAPSN	OMIM:618388
HP:0030791	Abnormal jaw morphology	285489	DOK7	ORPHA:994
HP:0030791	Abnormal jaw morphology	285489	DOK7	OMIM:618389
HP:0030791	Abnormal jaw morphology	50801	KCNK4	OMIM:618381
HP:0030791	Abnormal jaw morphology	65250	CPLANE1	OMIM:277170
HP:0030791	Abnormal jaw morphology	65250	CPLANE1	ORPHA:2754
HP:0030791	Abnormal jaw morphology	134218	DNAJC21	OMIM:617052
HP:0030791	Abnormal jaw morphology	6608	SMO	OMIM:241800
HP:0030791	Abnormal jaw morphology	80036	TRPM3	OMIM:620224
HP:0030791	Abnormal jaw morphology	10283	CWC27	ORPHA:166035
HP:0030791	Abnormal jaw morphology	10283	CWC27	OMIM:250410
HP:0030791	Abnormal jaw morphology	2887	GRB10	ORPHA:96182
HP:0030791	Abnormal jaw morphology	25839	COG4	OMIM:618150
HP:0030791	Abnormal jaw morphology	1457	CSNK2A1	OMIM:617062
HP:0030791	Abnormal jaw morphology	203068	TUBB	OMIM:156610
HP:0030791	Abnormal jaw morphology	203068	TUBB	ORPHA:2505
HP:0030791	Abnormal jaw morphology	55640	FLVCR2	OMIM:225790
HP:0030791	Abnormal jaw morphology	23112	TNRC6B	OMIM:619243
HP:0030791	Abnormal jaw morphology	9373	PLAA	ORPHA:521426
HP:0030791	Abnormal jaw morphology	9373	PLAA	OMIM:617527
HP:0030791	Abnormal jaw morphology	93587	TRMT10A	ORPHA:391408
HP:0030791	Abnormal jaw morphology	84919	PPP1R15B	ORPHA:391408
HP:0030791	Abnormal jaw morphology	84919	PPP1R15B	OMIM:616817
HP:0030791	Abnormal jaw morphology	199221	DZIP1L	ORPHA:731
HP:0030791	Abnormal jaw morphology	5314	PKHD1	ORPHA:731
HP:0030791	Abnormal jaw morphology	60386	SLC25A19	OMIM:607196
HP:0030791	Abnormal jaw morphology	60386	SLC25A19	ORPHA:99742
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	OMIM:271640
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	OMIM:609465
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	ORPHA:93359
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	ORPHA:536467
HP:0030791	Abnormal jaw morphology	10436	EMG1	OMIM:211180
HP:0030791	Abnormal jaw morphology	10436	EMG1	ORPHA:1270
HP:0030791	Abnormal jaw morphology	5745	PTH1R	OMIM:156400
HP:0030791	Abnormal jaw morphology	5745	PTH1R	OMIM:215045
HP:0030791	Abnormal jaw morphology	5745	PTH1R	ORPHA:50945
HP:0030791	Abnormal jaw morphology	6748	SSR4	OMIM:300934
HP:0030791	Abnormal jaw morphology	84464	SLX4	OMIM:613951
HP:0030791	Abnormal jaw morphology	84464	SLX4	ORPHA:84
HP:0030791	Abnormal jaw morphology	5557	PRIM1	OMIM:620005
HP:0030791	Abnormal jaw morphology	2801	GOLGA2	OMIM:620240
HP:0030791	Abnormal jaw morphology	9897	WASHC5	ORPHA:7
HP:0030791	Abnormal jaw morphology	9897	WASHC5	OMIM:220210
HP:0030791	Abnormal jaw morphology	28952	CCDC22	ORPHA:7
HP:0030791	Abnormal jaw morphology	114034	TOE1	ORPHA:284339
HP:0030791	Abnormal jaw morphology	114034	TOE1	OMIM:614969
HP:0030791	Abnormal jaw morphology	9562	MINPP1	ORPHA:284339
HP:0030791	Abnormal jaw morphology	55181	SMG8	OMIM:619268
HP:0030791	Abnormal jaw morphology	51109	RDH11	ORPHA:436245
HP:0030791	Abnormal jaw morphology	84942	WDR73	ORPHA:2065
HP:0030791	Abnormal jaw morphology	84942	WDR73	OMIM:251300
HP:0030791	Abnormal jaw morphology	55644	OSGEP	ORPHA:2065
HP:0030791	Abnormal jaw morphology	55644	OSGEP	OMIM:617729
HP:0030791	Abnormal jaw morphology	10785	WDR4	ORPHA:2065
HP:0030791	Abnormal jaw morphology	55746	NUP133	ORPHA:2065
HP:0030791	Abnormal jaw morphology	112858	TP53RK	ORPHA:2065
HP:0030791	Abnormal jaw morphology	8270	LAGE3	ORPHA:2065
HP:0030791	Abnormal jaw morphology	8270	LAGE3	OMIM:301006
HP:0030791	Abnormal jaw morphology	8085	KMT2D	OMIM:147920
HP:0030791	Abnormal jaw morphology	8085	KMT2D	OMIM:620186
HP:0030791	Abnormal jaw morphology	7403	KDM6A	OMIM:147920
HP:0030791	Abnormal jaw morphology	7403	KDM6A	OMIM:300867
HP:0030791	Abnormal jaw morphology	168667	BMPER	OMIM:608022
HP:0030791	Abnormal jaw morphology	6309	SC5D	ORPHA:46059
HP:0030791	Abnormal jaw morphology	6309	SC5D	OMIM:607330
HP:0030791	Abnormal jaw morphology	161742	SPRED1	OMIM:611431
HP:0030791	Abnormal jaw morphology	673	BRAF	OMIM:115150
HP:0030791	Abnormal jaw morphology	673	BRAF	OMIM:163950
HP:0030791	Abnormal jaw morphology	7518	XRCC4	ORPHA:99812
HP:0030791	Abnormal jaw morphology	7518	XRCC4	ORPHA:436182
HP:0030791	Abnormal jaw morphology	3981	LIG4	ORPHA:99812
HP:0030791	Abnormal jaw morphology	3981	LIG4	ORPHA:235
HP:0030791	Abnormal jaw morphology	1303	COL12A1	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1303	COL12A1	ORPHA:536516
HP:0030791	Abnormal jaw morphology	1291	COL6A1	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1292	COL6A2	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1293	COL6A3	ORPHA:75840
HP:0030791	Abnormal jaw morphology	55112	DYNC2I1	ORPHA:93271
HP:0030791	Abnormal jaw morphology	57560	IFT80	ORPHA:93271
HP:0030791	Abnormal jaw morphology	79659	DYNC2H1	ORPHA:93271
HP:0030791	Abnormal jaw morphology	89891	DYNC2I2	ORPHA:93271
HP:0030791	Abnormal jaw morphology	55780	ERMARD	ORPHA:75857
HP:0030791	Abnormal jaw morphology	10225	CD96	OMIM:211750
HP:0030791	Abnormal jaw morphology	10225	CD96	ORPHA:1308
HP:0030791	Abnormal jaw morphology	9382	COG1	OMIM:611209
HP:0030791	Abnormal jaw morphology	9382	COG1	ORPHA:263508
HP:0030791	Abnormal jaw morphology	1763	DNA2	OMIM:615807
HP:0030791	Abnormal jaw morphology	1801	DPH1	OMIM:616901
HP:0030791	Abnormal jaw morphology	1801	DPH1	ORPHA:459061
HP:0030791	Abnormal jaw morphology	672	BRCA1	ORPHA:84
HP:0030791	Abnormal jaw morphology	10459	MAD2L2	ORPHA:84
HP:0030791	Abnormal jaw morphology	7516	XRCC2	ORPHA:84
HP:0030791	Abnormal jaw morphology	29089	UBE2T	ORPHA:84
HP:0030791	Abnormal jaw morphology	675	BRCA2	ORPHA:84
HP:0030791	Abnormal jaw morphology	55120	FANCL	ORPHA:84
HP:0030791	Abnormal jaw morphology	55120	FANCL	OMIM:614083
HP:0030791	Abnormal jaw morphology	2177	FANCD2	ORPHA:84
HP:0030791	Abnormal jaw morphology	2175	FANCA	ORPHA:84
HP:0030791	Abnormal jaw morphology	2176	FANCC	ORPHA:84
HP:0030791	Abnormal jaw morphology	2178	FANCE	ORPHA:84
HP:0030791	Abnormal jaw morphology	2188	FANCF	ORPHA:84
HP:0030791	Abnormal jaw morphology	2189	FANCG	ORPHA:84
HP:0030791	Abnormal jaw morphology	5888	RAD51	ORPHA:84
HP:0030791	Abnormal jaw morphology	5889	RAD51C	ORPHA:84
HP:0030791	Abnormal jaw morphology	55159	RFWD3	ORPHA:84
HP:0030791	Abnormal jaw morphology	83990	BRIP1	ORPHA:84
HP:0030791	Abnormal jaw morphology	57697	FANCM	ORPHA:84
HP:0030791	Abnormal jaw morphology	79728	PALB2	ORPHA:84
HP:0030791	Abnormal jaw morphology	55215	FANCI	ORPHA:84
HP:0030791	Abnormal jaw morphology	9896	FIG4	ORPHA:3472
HP:0030791	Abnormal jaw morphology	9896	FIG4	OMIM:216340
HP:0030791	Abnormal jaw morphology	55697	VAC14	ORPHA:3472
HP:0030791	Abnormal jaw morphology	9184	BUB3	ORPHA:1052
HP:0030791	Abnormal jaw morphology	699	BUB1	ORPHA:1052
HP:0030791	Abnormal jaw morphology	9702	CEP57	ORPHA:1052
HP:0030791	Abnormal jaw morphology	9702	CEP57	OMIM:614114
HP:0030791	Abnormal jaw morphology	9319	TRIP13	ORPHA:1052
HP:0030791	Abnormal jaw morphology	701	BUB1B	ORPHA:1052
HP:0030791	Abnormal jaw morphology	701	BUB1B	OMIM:257300
HP:0030791	Abnormal jaw morphology	23036	ZNF292	OMIM:619188
HP:0030791	Abnormal jaw morphology	23314	SATB2	OMIM:612313
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:576283
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:251028
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:251019
HP:0030791	Abnormal jaw morphology	55636	CHD7	OMIM:214800
HP:0030791	Abnormal jaw morphology	526	ATP6V1B2	ORPHA:3473
HP:0030791	Abnormal jaw morphology	3782	KCNN3	ORPHA:3473
HP:0030791	Abnormal jaw morphology	53834	FGFRL1	OMIM:194190
HP:0030791	Abnormal jaw morphology	3954	LETM1	OMIM:194190
HP:0030791	Abnormal jaw morphology	3954	LETM1	ORPHA:280
HP:0030791	Abnormal jaw morphology	3954	LETM1	OMIM:620089
HP:0030791	Abnormal jaw morphology	10815	CPLX1	OMIM:194190
HP:0030791	Abnormal jaw morphology	10815	CPLX1	ORPHA:280
HP:0030791	Abnormal jaw morphology	165	AEBP1	ORPHA:536532
HP:0030791	Abnormal jaw morphology	165	AEBP1	OMIM:618000
HP:0030791	Abnormal jaw morphology	3192	HNRNPU	ORPHA:238769
HP:0030791	Abnormal jaw morphology	10013	HDAC6	ORPHA:163966
HP:0030791	Abnormal jaw morphology	3211	HOXB1	OMIM:614744
HP:0030791	Abnormal jaw morphology	23137	SMC5	OMIM:620185
HP:0030791	Abnormal jaw morphology	57459	GATAD2B	ORPHA:363686
HP:0030791	Abnormal jaw morphology	6473	SHOX	OMIM:249700
HP:0030791	Abnormal jaw morphology	6473	SHOX	ORPHA:314795
HP:0030791	Abnormal jaw morphology	81887	LAS1L	ORPHA:3459
HP:0030791	Abnormal jaw morphology	23261	CAMTA1	OMIM:614756
HP:0030791	Abnormal jaw morphology	10472	ZBTB18	OMIM:612337
HP:0030791	Abnormal jaw morphology	10472	ZBTB18	ORPHA:36367
HP:0030791	Abnormal jaw morphology	2255	FGF10	ORPHA:2363
HP:0030791	Abnormal jaw morphology	8813	DPM1	OMIM:608799
HP:0030791	Abnormal jaw morphology	8813	DPM1	ORPHA:79322
HP:0030791	Abnormal jaw morphology	55275	VPS53	OMIM:615851
HP:0030791	Abnormal jaw morphology	545	ATR	ORPHA:808
HP:0030791	Abnormal jaw morphology	545	ATR	OMIM:210600
HP:0030791	Abnormal jaw morphology	1062	CENPE	ORPHA:808
HP:0030791	Abnormal jaw morphology	1062	CENPE	OMIM:616051
HP:0030791	Abnormal jaw morphology	79902	NUP85	ORPHA:808
HP:0030791	Abnormal jaw morphology	84126	ATRIP	ORPHA:808
HP:0030791	Abnormal jaw morphology	10293	TRAIP	ORPHA:808
HP:0030791	Abnormal jaw morphology	10293	TRAIP	OMIM:616777
HP:0030791	Abnormal jaw morphology	1302	COL11A2	OMIM:614524
HP:0030791	Abnormal jaw morphology	1302	COL11A2	ORPHA:1427
HP:0030791	Abnormal jaw morphology	1302	COL11A2	ORPHA:166100
HP:0030791	Abnormal jaw morphology	1302	COL11A2	OMIM:215150
HP:0030791	Abnormal jaw morphology	80324	PUS1	ORPHA:2598
HP:0030791	Abnormal jaw morphology	80324	PUS1	OMIM:600462
HP:0030791	Abnormal jaw morphology	51067	YARS2	ORPHA:2598
HP:0030791	Abnormal jaw morphology	28962	OSTM1	OMIM:259720
HP:0030791	Abnormal jaw morphology	2303	FOXC2	OMIM:153400
HP:0030791	Abnormal jaw morphology	7407	VARS1	OMIM:617802
HP:0030791	Abnormal jaw morphology	8216	LZTR1	OMIM:605275
HP:0030791	Abnormal jaw morphology	8216	LZTR1	ORPHA:648
HP:0030791	Abnormal jaw morphology	56052	ALG1	OMIM:608540
HP:0030791	Abnormal jaw morphology	10075	HUWE1	OMIM:309590
HP:0030791	Abnormal jaw morphology	10159	ATP6AP2	OMIM:301045
HP:0030791	Abnormal jaw morphology	27238	GPKOW	ORPHA:2570
HP:0030791	Abnormal jaw morphology	4854	NOTCH3	OMIM:130720
HP:0030791	Abnormal jaw morphology	4854	NOTCH3	ORPHA:2789
HP:0030791	Abnormal jaw morphology	84162	BLTP1	OMIM:617822
HP:0030791	Abnormal jaw morphology	10982	MAPRE2	OMIM:616734
HP:0030791	Abnormal jaw morphology	10982	MAPRE2	ORPHA:2505
HP:0030791	Abnormal jaw morphology	57211	ADGRG6	OMIM:616503
HP:0030791	Abnormal jaw morphology	259232	NALCN	OMIM:615419
HP:0030791	Abnormal jaw morphology	259232	NALCN	OMIM:616266
HP:0030791	Abnormal jaw morphology	259232	NALCN	ORPHA:1147
HP:0030791	Abnormal jaw morphology	259232	NALCN	ORPHA:371364
HP:0030791	Abnormal jaw morphology	5723	PSPH	ORPHA:79350
HP:0030791	Abnormal jaw morphology	23476	BRD4	ORPHA:199
HP:0030791	Abnormal jaw morphology	9126	SMC3	ORPHA:199
HP:0030791	Abnormal jaw morphology	9126	SMC3	OMIM:610759
HP:0030791	Abnormal jaw morphology	5885	RAD21	ORPHA:199
HP:0030791	Abnormal jaw morphology	9150	CTDP1	ORPHA:48431
HP:0030791	Abnormal jaw morphology	1861	TOR1A	OMIM:618947
HP:0030791	Abnormal jaw morphology	5297	PI4KA	OMIM:616531
HP:0030791	Abnormal jaw morphology	5297	PI4KA	ORPHA:98889
HP:0030791	Abnormal jaw morphology	5297	PI4KA	OMIM:619708
HP:0030791	Abnormal jaw morphology	112752	IFT43	OMIM:617866
HP:0030791	Abnormal jaw morphology	112752	IFT43	OMIM:614099
HP:0030791	Abnormal jaw morphology	113246	C12orf57	OMIM:218340
HP:0030791	Abnormal jaw morphology	84700	MYO18B	OMIM:616549
HP:0030791	Abnormal jaw morphology	1146	CHRNG	ORPHA:2990
HP:0030791	Abnormal jaw morphology	1146	CHRNG	OMIM:265000
HP:0030791	Abnormal jaw morphology	1146	CHRNG	OMIM:253290
HP:0030791	Abnormal jaw morphology	9939	RBM8A	OMIM:274000
HP:0030791	Abnormal jaw morphology	9939	RBM8A	ORPHA:3320
HP:0030791	Abnormal jaw morphology	7473	WNT3	OMIM:273395
HP:0030791	Abnormal jaw morphology	7473	WNT3	ORPHA:3301
HP:0030791	Abnormal jaw morphology	4750	NEK1	ORPHA:2751
HP:0030791	Abnormal jaw morphology	22931	RAB18	ORPHA:2510
HP:0030791	Abnormal jaw morphology	22931	RAB18	OMIM:614222
HP:0030791	Abnormal jaw morphology	128637	TBC1D20	ORPHA:2510
HP:0030791	Abnormal jaw morphology	10210	TOPORS	ORPHA:2754
HP:0030791	Abnormal jaw morphology	9851	KIAA0753	ORPHA:2754
HP:0030791	Abnormal jaw morphology	5147	PDE6D	ORPHA:2754
HP:0030791	Abnormal jaw morphology	317662	FAM149B1	ORPHA:2754
HP:0030791	Abnormal jaw morphology	55553	SOX6	OMIM:618971
HP:0030791	Abnormal jaw morphology	4281	MID1	ORPHA:2745
HP:0030791	Abnormal jaw morphology	8398	PLA2G6	OMIM:256600
HP:0030791	Abnormal jaw morphology	246329	STAC3	OMIM:255995
HP:0030791	Abnormal jaw morphology	246329	STAC3	ORPHA:168572
HP:0030791	Abnormal jaw morphology	2137	EXTL3	ORPHA:508533
HP:0030791	Abnormal jaw morphology	7528	YY1	ORPHA:506358
HP:0030791	Abnormal jaw morphology	7528	YY1	OMIM:617557
HP:0030791	Abnormal jaw morphology	23141	ANKLE2	OMIM:616681
HP:0030791	Abnormal jaw morphology	8294	H4C9	OMIM:619951
HP:0030791	Abnormal jaw morphology	83932	SPRTN	OMIM:616200
HP:0030791	Abnormal jaw morphology	5830	PEX5	OMIM:214110
HP:0030791	Abnormal jaw morphology	5830	PEX5	ORPHA:912
HP:0030791	Abnormal jaw morphology	64220	STRA6	OMIM:601186
HP:0030791	Abnormal jaw morphology	9786	KIAA0586	ORPHA:397715
HP:0030791	Abnormal jaw morphology	1723	DHODH	OMIM:263750
HP:0030791	Abnormal jaw morphology	1723	DHODH	ORPHA:246
HP:0030791	Abnormal jaw morphology	72	ACTG2	ORPHA:2604
HP:0030791	Abnormal jaw morphology	2201	FBN2	OMIM:121050
HP:0030791	Abnormal jaw morphology	4286	MITF	OMIM:617306
HP:0030791	Abnormal jaw morphology	5189	PEX1	OMIM:214100
HP:0030791	Abnormal jaw morphology	5189	PEX1	ORPHA:912
HP:0030791	Abnormal jaw morphology	716	C1S	ORPHA:75392
HP:0030791	Abnormal jaw morphology	715	C1R	ORPHA:75392
HP:0030791	Abnormal jaw morphology	10381	TUBB3	ORPHA:300570
HP:0030791	Abnormal jaw morphology	2626	GATA4	ORPHA:251071
HP:0030791	Abnormal jaw morphology	7020	TFAP2A	OMIM:113620
HP:0030791	Abnormal jaw morphology	54872	PIGG	ORPHA:280
HP:0030791	Abnormal jaw morphology	7469	NELFA	ORPHA:280
HP:0030791	Abnormal jaw morphology	22872	SEC31A	OMIM:618651
HP:0030791	Abnormal jaw morphology	4763	NF1	ORPHA:363700
HP:0030791	Abnormal jaw morphology	5424	POLD1	OMIM:615381
HP:0030791	Abnormal jaw morphology	57498	KIDINS220	OMIM:619501
HP:0030791	Abnormal jaw morphology	4174	MCM5	OMIM:617564
HP:0030791	Abnormal jaw morphology	57178	ZMIZ1	OMIM:618659
HP:0030791	Abnormal jaw morphology	8241	RBM10	OMIM:311900
HP:0030791	Abnormal jaw morphology	8241	RBM10	ORPHA:2886
HP:0030791	Abnormal jaw morphology	57167	SALL4	ORPHA:233
HP:0030791	Abnormal jaw morphology	1123	CHN1	ORPHA:233
HP:0030791	Abnormal jaw morphology	1789	DNMT3B	OMIM:242860
HP:0030791	Abnormal jaw morphology	1789	DNMT3B	ORPHA:2268
HP:0030791	Abnormal jaw morphology	54888	NSUN2	ORPHA:235
HP:0030791	Abnormal jaw morphology	54914	FOCAD	OMIM:619991
HP:0030791	Abnormal jaw morphology	286	ANK1	ORPHA:251066
HP:0030791	Abnormal jaw morphology	145258	GSC	OMIM:602471
HP:0030791	Abnormal jaw morphology	54928	BPNT2	OMIM:614078
HP:0030791	Abnormal jaw morphology	9928	KIF14	OMIM:616258
HP:0030791	Abnormal jaw morphology	2542	SLC37A4	OMIM:619525
HP:0030791	Abnormal jaw morphology	57724	EPG5	OMIM:242840
HP:0030791	Abnormal jaw morphology	23162	MAPK8IP3	OMIM:618443
HP:0030791	Abnormal jaw morphology	4123	MAN2C1	OMIM:619775
HP:0030791	Abnormal jaw morphology	8218	CLTCL1	ORPHA:453510
HP:0030791	Abnormal jaw morphology	23219	FBXO28	OMIM:619777
HP:0030791	Abnormal jaw morphology	9496	TBX4	OMIM:147891
HP:0030791	Abnormal jaw morphology	79087	ALG12	ORPHA:79324
HP:0030791	Abnormal jaw morphology	8295	TRRAP	OMIM:618454
HP:0030791	Abnormal jaw morphology	3763	KCNJ6	OMIM:614098
HP:0030791	Abnormal jaw morphology	3763	KCNJ6	ORPHA:435628
HP:0030791	Abnormal jaw morphology	29968	PSAT1	OMIM:616038
HP:0030791	Abnormal jaw morphology	29968	PSAT1	ORPHA:284417
HP:0030791	Abnormal jaw morphology	58497	PRUNE1	ORPHA:544469
HP:0030791	Abnormal jaw morphology	5062	PAK2	OMIM:618458
HP:0030791	Abnormal jaw morphology	54892	NCAPG2	OMIM:618460
HP:0030791	Abnormal jaw morphology	221496	LEMD2	OMIM:619322
HP:0030791	Abnormal jaw morphology	29998	BICRA	OMIM:619325
HP:0030791	Abnormal jaw morphology	23030	KDM4B	OMIM:619320
HP:0030791	Abnormal jaw morphology	1363	CPE	OMIM:619326
HP:0030791	Abnormal jaw morphology	6904	TBCD	ORPHA:496641
HP:0030791	Abnormal jaw morphology	6904	TBCD	OMIM:617193
HP:0030791	Abnormal jaw morphology	170302	ARX	ORPHA:452
HP:0030791	Abnormal jaw morphology	170302	ARX	OMIM:300215
HP:0030791	Abnormal jaw morphology	23221	RHOBTB2	OMIM:618004
HP:0030791	Abnormal jaw morphology	10082	GPC6	OMIM:258315
HP:0030791	Abnormal jaw morphology	10082	GPC6	ORPHA:93329
HP:0030791	Abnormal jaw morphology	1147	CHUK	OMIM:619339
HP:0030791	Abnormal jaw morphology	8091	HMGA2	ORPHA:94063
HP:0030791	Abnormal jaw morphology	8091	HMGA2	ORPHA:397590
HP:0030791	Abnormal jaw morphology	23592	LEMD3	ORPHA:94063
HP:0030791	Abnormal jaw morphology	26276	VPS33B	OMIM:208085
HP:0030791	Abnormal jaw morphology	5277	PIGA	OMIM:300868
HP:0030791	Abnormal jaw morphology	23384	SPECC1L	OMIM:145420
HP:0030791	Abnormal jaw morphology	80347	COASY	OMIM:618266
HP:0030791	Abnormal jaw morphology	5281	PIGF	OMIM:619356
HP:0030791	Abnormal jaw morphology	51604	PIGT	ORPHA:369837
HP:0030791	Abnormal jaw morphology	2132	EXT2	ORPHA:52022
HP:0030791	Abnormal jaw morphology	60529	ALX4	ORPHA:52022
HP:0030791	Abnormal jaw morphology	51317	PHF21A	ORPHA:52022
HP:0030791	Abnormal jaw morphology	23405	DICER1	OMIM:618272
HP:0030791	Abnormal jaw morphology	10651	MTX2	OMIM:619127
HP:0030791	Abnormal jaw morphology	29123	ANKRD11	ORPHA:261250
HP:0030791	Abnormal jaw morphology	10220	GDF11	OMIM:619122
HP:0030791	Abnormal jaw morphology	90416	CCDC32	OMIM:619123
HP:0030791	Abnormal jaw morphology	5080	PAX6	ORPHA:893
HP:0030791	Abnormal jaw morphology	627	BDNF	ORPHA:893
HP:0030791	Abnormal jaw morphology	7490	WT1	ORPHA:893
HP:0030791	Abnormal jaw morphology	84905	ZNF341	OMIM:618282
HP:0030791	Abnormal jaw morphology	57020	VPS35L	OMIM:619135
HP:0030791	Abnormal jaw morphology	1984	EIF5A	OMIM:619376
HP:0030791	Abnormal jaw morphology	5236	PGM1	OMIM:614921
HP:0030791	Abnormal jaw morphology	22800	RRAS2	ORPHA:648
HP:0030791	Abnormal jaw morphology	6016	RIT1	ORPHA:648
HP:0030791	Abnormal jaw morphology	6237	RRAS	ORPHA:648
HP:0030791	Abnormal jaw morphology	22808	MRAS	ORPHA:648
HP:0030791	Abnormal jaw morphology	200734	SPRED2	ORPHA:648
HP:0030791	Abnormal jaw morphology	6654	SOS1	ORPHA:648
HP:0030791	Abnormal jaw morphology	6655	SOS2	ORPHA:648
HP:0030791	Abnormal jaw morphology	5922	RASA2	ORPHA:648
HP:0030791	Abnormal jaw morphology	23299	BICD2	OMIM:618291
HP:0030791	Abnormal jaw morphology	6913	TBX15	OMIM:260660
HP:0030791	Abnormal jaw morphology	871	SERPINH1	OMIM:613848
HP:0030791	Abnormal jaw morphology	2690	GHR	ORPHA:633
HP:0030791	Abnormal jaw morphology	121340	SP7	OMIM:613849
HP:0030791	Abnormal jaw morphology	83483	PLVAP	OMIM:618183
HP:0030791	Abnormal jaw morphology	10128	LRPPRC	OMIM:220111
HP:0030791	Abnormal jaw morphology	775	CACNA1C	OMIM:620029
HP:0030791	Abnormal jaw morphology	55624	POMGNT1	OMIM:253280
HP:0030791	Abnormal jaw morphology	8854	ALDH1A2	OMIM:620025
HP:0030791	Abnormal jaw morphology	10274	STAG1	ORPHA:502434
HP:0030791	Abnormal jaw morphology	23118	TAB2	ORPHA:228410
HP:0030791	Abnormal jaw morphology	8443	GNPAT	OMIM:222765
HP:0030791	Abnormal jaw morphology	4703	NEB	ORPHA:171436
HP:0030791	Abnormal jaw morphology	4703	NEB	ORPHA:171439
HP:0030791	Abnormal jaw morphology	10324	KLHL41	ORPHA:171436
HP:0030791	Abnormal jaw morphology	10324	KLHL41	OMIM:615731
HP:0030791	Abnormal jaw morphology	10324	KLHL41	ORPHA:171439
HP:0030791	Abnormal jaw morphology	56203	LMOD3	ORPHA:171436
HP:0030791	Abnormal jaw morphology	1073	CFL2	ORPHA:171436
HP:0030791	Abnormal jaw morphology	22858	CILK1	OMIM:612651
HP:0030791	Abnormal jaw morphology	3483	IGFALS	ORPHA:140941
HP:0030791	Abnormal jaw morphology	283989	TSEN54	ORPHA:166063
HP:0030791	Abnormal jaw morphology	4633	MYL2	ORPHA:2020
HP:0030791	Abnormal jaw morphology	3679	ITGA7	ORPHA:2020
HP:0030791	Abnormal jaw morphology	9200	HACD1	ORPHA:2020
HP:0030791	Abnormal jaw morphology	7170	TPM3	ORPHA:2020
HP:0030791	Abnormal jaw morphology	7170	TPM3	ORPHA:171439
HP:0030791	Abnormal jaw morphology	51776	MAP3K20	ORPHA:2020
HP:0030791	Abnormal jaw morphology	3070	HELLS	ORPHA:2268
HP:0030791	Abnormal jaw morphology	83879	CDCA7	ORPHA:2268
HP:0030791	Abnormal jaw morphology	5826	ABCD4	OMIM:614857
HP:0030791	Abnormal jaw morphology	26227	PHGDH	OMIM:256520
HP:0030791	Abnormal jaw morphology	2615	LRRC32	OMIM:619074
HP:0030791	Abnormal jaw morphology	5828	PEX2	OMIM:614866
HP:0030791	Abnormal jaw morphology	5828	PEX2	ORPHA:912
HP:0030791	Abnormal jaw morphology	6804	STX1A	ORPHA:904
HP:0030791	Abnormal jaw morphology	7461	CLIP2	ORPHA:904
HP:0030791	Abnormal jaw morphology	84277	DNAJC30	ORPHA:904
HP:0030791	Abnormal jaw morphology	8468	FKBP6	ORPHA:904
HP:0030791	Abnormal jaw morphology	5982	RFC2	ORPHA:904
HP:0030791	Abnormal jaw morphology	2969	GTF2I	ORPHA:904
HP:0030791	Abnormal jaw morphology	3984	LIMK1	ORPHA:904
HP:0030791	Abnormal jaw morphology	9569	GTF2IRD1	ORPHA:904
HP:0030791	Abnormal jaw morphology	155382	VPS37D	ORPHA:904
HP:0030791	Abnormal jaw morphology	155368	METTL27	ORPHA:904
HP:0030791	Abnormal jaw morphology	114049	BUD23	ORPHA:904
HP:0030791	Abnormal jaw morphology	7458	EIF4H	ORPHA:904
HP:0030791	Abnormal jaw morphology	84163	GTF2IRD2	ORPHA:904
HP:0030791	Abnormal jaw morphology	9275	BCL7B	ORPHA:904
HP:0030791	Abnormal jaw morphology	26608	TBL2	ORPHA:904
HP:0030791	Abnormal jaw morphology	653361	NCF1	ORPHA:904
HP:0030791	Abnormal jaw morphology	135886	TMEM270	ORPHA:904
HP:0030791	Abnormal jaw morphology	51085	MLXIPL	ORPHA:904
HP:0030791	Abnormal jaw morphology	9031	BAZ1B	ORPHA:904
HP:0030791	Abnormal jaw morphology	9289	ADGRG1	ORPHA:98889
HP:0030791	Abnormal jaw morphology	27286	SRPX2	ORPHA:98889
HP:0030791	Abnormal jaw morphology	55027	HEATR3	OMIM:620072
HP:0030791	Abnormal jaw morphology	10236	HNRNPR	OMIM:620073
HP:0030791	Abnormal jaw morphology	51611	DPH5	OMIM:620070
HP:0030791	Abnormal jaw morphology	5700	PSMC1	OMIM:620071
HP:0030791	Abnormal jaw morphology	728294	D2HGDH	OMIM:600721
HP:0030791	Abnormal jaw morphology	6628	SNRPB	ORPHA:1393
HP:0030791	Abnormal jaw morphology	6628	SNRPB	OMIM:117650
HP:0030791	Abnormal jaw morphology	5594	MAPK1	OMIM:619087
HP:0030791	Abnormal jaw morphology	1028	CDKN1C	ORPHA:397590
HP:0030791	Abnormal jaw morphology	5324	PLAG1	ORPHA:397590
HP:0030791	Abnormal jaw morphology	2065	ERBB3	OMIM:607598
HP:0030791	Abnormal jaw morphology	81031	SLC2A10	OMIM:208050
HP:0030791	Abnormal jaw morphology	7140	TNNT3	ORPHA:1147
HP:0030791	Abnormal jaw morphology	8504	PEX3	OMIM:614882
HP:0030791	Abnormal jaw morphology	8504	PEX3	ORPHA:912
HP:0030791	Abnormal jaw morphology	84665	MYPN	ORPHA:171439
HP:0030791	Abnormal jaw morphology	390594	KBTBD13	ORPHA:171439
HP:0030791	Abnormal jaw morphology	50628	GEMIN4	OMIM:617913
HP:0030791	Abnormal jaw morphology	84570	COL25A1	ORPHA:1143
HP:0030791	Abnormal jaw morphology	57222	ERGIC1	ORPHA:1143
HP:0030791	Abnormal jaw morphology	5195	PEX14	OMIM:614887
HP:0030791	Abnormal jaw morphology	5195	PEX14	ORPHA:912
HP:0030791	Abnormal jaw morphology	1297	COL9A1	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1298	COL9A2	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1299	COL9A3	ORPHA:250984
HP:0030791	Abnormal jaw morphology	84695	LOXL3	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1144	CHRND	OMIM:253290
HP:0030791	Abnormal jaw morphology	55670	PEX26	ORPHA:912
HP:0030791	Abnormal jaw morphology	8799	PEX11B	ORPHA:912
HP:0030791	Abnormal jaw morphology	9409	PEX16	ORPHA:912
HP:0030791	Abnormal jaw morphology	5190	PEX6	ORPHA:912
HP:0030791	Abnormal jaw morphology	5193	PEX12	ORPHA:912
HP:0030791	Abnormal jaw morphology	5194	PEX13	ORPHA:912
HP:0030791	Abnormal jaw morphology	5192	PEX10	ORPHA:912
HP:0030791	Abnormal jaw morphology	9780	PIEZO1	OMIM:616843
HP:0030791	Abnormal jaw morphology	85358	SHANK3	OMIM:606232
HP:0030791	Abnormal jaw morphology	113179	ADAT3	ORPHA:363528
HP:0030791	Abnormal jaw morphology	10525	HYOU1	OMIM:233600
HP:0030791	Abnormal jaw morphology	55784	MCTP2	ORPHA:1596
HP:0030791	Abnormal jaw morphology	91869	RFT1	OMIM:612015
HP:0030791	Abnormal jaw morphology	5053	PAH	ORPHA:2209
HP:0030791	Abnormal jaw morphology	4297	KMT2A	OMIM:605130
HP:0030791	Abnormal jaw morphology	101929726	MYMX	ORPHA:1358
HP:0030791	Abnormal jaw morphology	101929726	MYMX	OMIM:619941
HP:0030791	Abnormal jaw morphology	4204	MECP2	OMIM:300055
HP:0030791	Abnormal jaw morphology	10265	IRX5	OMIM:611174
HP:0030791	Abnormal jaw morphology	5925	RB1	ORPHA:1587
HP:0030791	Abnormal jaw morphology	55603	TENT5A	OMIM:617952
HP:0030791	Abnormal jaw morphology	1063	CENPF	OMIM:243605
HP:0030791	Abnormal jaw morphology	2186	BPTF	ORPHA:529962
HP:0030791	Abnormal jaw morphology	2186	BPTF	OMIM:617755
HP:0030791	Abnormal jaw morphology	84342	COG8	OMIM:611182
HP:0030791	Abnormal jaw morphology	57572	DOCK6	OMIM:614219
HP:0030791	Abnormal jaw morphology	29980	DONSON	OMIM:251230
HP:0030791	Abnormal jaw morphology	23233	EXOC6B	ORPHA:93359
HP:0030791	Abnormal jaw morphology	4659	PPP1R12A	OMIM:618820
HP:0030791	Abnormal jaw morphology	91461	PKDCC	OMIM:618821
HP:0030791	Abnormal jaw morphology	285175	UNC80	ORPHA:371364
HP:0030791	Abnormal jaw morphology	8405	SPOP	OMIM:618829
HP:0030791	Abnormal jaw morphology	202018	TAPT1	OMIM:616897
HP:0030791	Abnormal jaw morphology	2767	GNA11	ORPHA:1556
HP:0030791	Abnormal jaw morphology	151188	ARL6IP6	ORPHA:1556
HP:0030791	Abnormal jaw morphology	440	ASNS	OMIM:615574
HP:0030791	Abnormal jaw morphology	55023	PHIP	OMIM:617991
HP:0030791	Abnormal jaw morphology	7476	WNT7A	ORPHA:2879
HP:0030791	Abnormal jaw morphology	4848	CNOT2	OMIM:618608
HP:0030791	Abnormal jaw morphology	23529	CLCF1	ORPHA:1545
HP:0030791	Abnormal jaw morphology	221927	BRAT1	OMIM:614498
HP:0030791	Abnormal jaw morphology	6736	SRY	ORPHA:1772
HP:0030791	Abnormal jaw morphology	5604	MAP2K1	OMIM:163950
HP:0030791	Abnormal jaw morphology	25	ABL1	OMIM:617602
HP:0030791	Abnormal jaw morphology	3166	HMX1	OMIM:612109
HP:0030791	Abnormal jaw morphology	9509	ADAMTS2	OMIM:225410
HP:0030791	Abnormal jaw morphology	4796	TONSL	ORPHA:93357
HP:0030791	Abnormal jaw morphology	203859	ANO5	ORPHA:53697
HP:0030791	Abnormal jaw morphology	1186	CLCN7	ORPHA:53
HP:0030791	Abnormal jaw morphology	1186	CLCN7	OMIM:166600
HP:0030791	Abnormal jaw morphology	8600	TNFSF11	OMIM:259710
HP:0030791	Abnormal jaw morphology	5332	PLCB4	OMIM:614669
HP:0030791	Abnormal jaw morphology	5332	PLCB4	ORPHA:137888
HP:0030791	Abnormal jaw morphology	2773	GNAI3	ORPHA:137888
HP:0030791	Abnormal jaw morphology	2773	GNAI3	OMIM:602483
HP:0030791	Abnormal jaw morphology	2131	EXT1	ORPHA:502
HP:0030791	Abnormal jaw morphology	7227	TRPS1	ORPHA:502
HP:0030791	Abnormal jaw morphology	5396	PRRX1	OMIM:202650
HP:0030791	Abnormal jaw morphology	5396	PRRX1	ORPHA:990
HP:0030791	Abnormal jaw morphology	5015	OTX2	ORPHA:990
HP:0030791	Abnormal jaw morphology	81620	CDT1	ORPHA:2554
HP:0030791	Abnormal jaw morphology	5000	ORC4	ORPHA:2554
HP:0030791	Abnormal jaw morphology	23594	ORC6	ORPHA:2554
HP:0030791	Abnormal jaw morphology	8318	CDC45	ORPHA:2554
HP:0030791	Abnormal jaw morphology	990	CDC6	ORPHA:2554
HP:0030791	Abnormal jaw morphology	4998	ORC1	ORPHA:2554
HP:0030791	Abnormal jaw morphology	51053	GMNN	ORPHA:2554
HP:0030791	Abnormal jaw morphology	56975	FAM20C	ORPHA:1832
HP:0030791	Abnormal jaw morphology	54539	NDUFB11	ORPHA:2556
HP:0030791	Abnormal jaw morphology	1349	COX7B	ORPHA:2556
HP:0030791	Abnormal jaw morphology	3052	HCCS	ORPHA:2556
HP:0030791	Abnormal jaw morphology	5727	PTCH1	OMIM:610828
HP:0030791	Abnormal jaw morphology	2736	GLI2	OMIM:610829
HP:0030791	Abnormal jaw morphology	64093	SMOC1	ORPHA:1106
HP:0030791	Abnormal jaw morphology	9775	EIF4A3	OMIM:268305
HP:0030791	Abnormal jaw morphology	1289	COL5A1	ORPHA:287
HP:0030791	Abnormal jaw morphology	1290	COL5A2	ORPHA:287
HP:0030791	Abnormal jaw morphology	6775	STAT4	ORPHA:85408
HP:0030791	Abnormal jaw morphology	3560	IL2RB	ORPHA:85408
HP:0030791	Abnormal jaw morphology	79722	ANKRD55	ORPHA:85408
HP:0030791	Abnormal jaw morphology	26191	PTPN22	ORPHA:85408
HP:0030791	Abnormal jaw morphology	919	CD247	ORPHA:85408
HP:0030791	Abnormal jaw morphology	3559	IL2RA	ORPHA:85408
HP:0030791	Abnormal jaw morphology	5771	PTPN2	ORPHA:85408
HP:0030791	Abnormal jaw morphology	3908	LAMA2	ORPHA:258
HP:0030791	Abnormal jaw morphology	6496	SIX3	OMIM:157170
HP:0030791	Abnormal jaw morphology	78989	COLEC11	OMIM:265050
HP:0030791	Abnormal jaw morphology	30008	EFEMP2	OMIM:614437
HP:0030791	Abnormal jaw morphology	4893	NRAS	OMIM:137550
HP:0030791	Abnormal jaw morphology	3265	HRAS	OMIM:137550
HP:0030791	Abnormal jaw morphology	5824	PEX19	OMIM:614886
HP:0030791	Abnormal jaw morphology	3423	IDS	ORPHA:217085
HP:0030791	Abnormal jaw morphology	3423	IDS	ORPHA:217093
HP:0030791	Abnormal jaw morphology	23230	VPS13A	ORPHA:2388
HP:0030791	Abnormal jaw morphology	60482	SLC5A7	ORPHA:98914
HP:0030791	Abnormal jaw morphology	4649	MYO9A	ORPHA:98914
HP:0030791	Abnormal jaw morphology	1103	CHAT	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6576	SLC25A1	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6843	VAMP1	ORPHA:98914
HP:0030791	Abnormal jaw morphology	375790	AGRN	ORPHA:98914
HP:0030791	Abnormal jaw morphology	127833	SYT2	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6572	SLC18A3	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6616	SNAP25	ORPHA:98914
HP:0030791	Abnormal jaw morphology	4654	MYOD1	OMIM:618975
HP:0030791	Abnormal jaw morphology	8812	CCNK	OMIM:618147
HP:0030791	Abnormal jaw morphology	79753	SNIP1	OMIM:614501
HP:0030791	Abnormal jaw morphology	83550	GPR101	ORPHA:963
HP:0030791	Abnormal jaw morphology	9049	AIP	ORPHA:963
HP:0030791	Abnormal jaw morphology	9839	ZEB2	ORPHA:261552
HP:0030791	Abnormal jaw morphology	6452	SH3BP2	OMIM:118400
HP:0030791	Abnormal jaw morphology	1272	CNTN1	OMIM:612540
HP:0030791	Abnormal jaw morphology	8815	BANF1	OMIM:614008
HP:0030791	Abnormal jaw morphology	26137	ZBTB20	OMIM:259050
HP:0030791	Abnormal jaw morphology	2316	FLNA	OMIM:300048
HP:0030791	Abnormal jaw morphology	3845	KRAS	OMIM:600268
HP:0030791	Abnormal jaw morphology	4041	LRP5	OMIM:607634
HP:0030791	Abnormal jaw morphology	79577	CDC73	ORPHA:143
HP:0030791	Abnormal jaw morphology	79577	CDC73	ORPHA:99880
HP:0030791	Abnormal jaw morphology	6335	SCN9A	OMIM:167400
HP:0030791	Abnormal jaw morphology	157570	ESCO2	OMIM:268300
HP:0030791	Abnormal jaw morphology	79759	ZNF668	OMIM:620194
HP:0030791	Abnormal jaw morphology	6660	SOX5	ORPHA:313892
HP:0030791	Abnormal jaw morphology	80232	WDR26	ORPHA:513456
HP:0030791	Abnormal jaw morphology	80232	WDR26	OMIM:617616
HP:0030791	Abnormal jaw morphology	1173	AP2M1	OMIM:618587
HP:0030791	Abnormal jaw morphology	3043	HBB	ORPHA:231226
HP:0030791	Abnormal jaw morphology	3043	HBB	ORPHA:231214
HP:0030791	Abnormal jaw morphology	27107	ZBTB11	OMIM:618383
HP:0030791	Abnormal jaw morphology	55084	SOBP	OMIM:613671
HP:0007311	Short stepped shuffling gait	4137	MAPT	ORPHA:240094
HP:0007311	Short stepped shuffling gait	4137	MAPT	OMIM:168600
HP:0007311	Short stepped shuffling gait	9829	DNAJC6	ORPHA:391411
HP:0007311	Short stepped shuffling gait	5420	PODXL	ORPHA:391411
HP:0007311	Short stepped shuffling gait	8867	SYNJ1	ORPHA:391411
HP:0007311	Short stepped shuffling gait	8867	SYNJ1	OMIM:615530
HP:0007311	Short stepped shuffling gait	2747	GLUD2	OMIM:168600
HP:0007311	Short stepped shuffling gait	126	ADH1C	OMIM:168600
HP:0007311	Short stepped shuffling gait	2629	GBA1	OMIM:168600
HP:0007311	Short stepped shuffling gait	4929	NR4A2	OMIM:168600
HP:0007311	Short stepped shuffling gait	6908	TBP	OMIM:168600
HP:0007311	Short stepped shuffling gait	4576	MT-TT	OMIM:168600
HP:0007311	Short stepped shuffling gait	9627	SNCAIP	OMIM:168600
HP:0007311	Short stepped shuffling gait	6311	ATXN2	OMIM:168600
HP:0007311	Short stepped shuffling gait	6315	ATXN8OS	OMIM:168600
HP:0007311	Short stepped shuffling gait	1639	DCTN1	OMIM:168605
HP:0007311	Short stepped shuffling gait	59341	TRPV4	ORPHA:86820
HP:0007311	Short stepped shuffling gait	1280	COL2A1	ORPHA:86820
HP:0007311	Short stepped shuffling gait	5575	PRKAR1B	ORPHA:412066
HP:0000151	Aplasia of the uterus	745	MYRF	OMIM:618280
HP:0000151	Aplasia of the uterus	55120	FANCL	OMIM:614083
HP:0000151	Aplasia of the uterus	57492	ARID1B	OMIM:135900
HP:0000151	Aplasia of the uterus	2625	GATA3	ORPHA:2237
HP:0000151	Aplasia of the uterus	2625	GATA3	OMIM:146255
HP:0000151	Aplasia of the uterus	54361	WNT4	ORPHA:3109
HP:0000151	Aplasia of the uterus	54361	WNT4	OMIM:158330
HP:0000151	Aplasia of the uterus	7476	WNT7A	ORPHA:2879
HP:0000151	Aplasia of the uterus	7476	WNT7A	OMIM:276820
HP:0000151	Aplasia of the uterus	1583	CYP11A1	ORPHA:168558
HP:0000151	Aplasia of the uterus	1583	CYP11A1	ORPHA:289548
HP:0000151	Aplasia of the uterus	57647	DHX37	OMIM:273250
HP:0000151	Aplasia of the uterus	79770	TXNDC15	OMIM:619879
HP:0000151	Aplasia of the uterus	9939	RBM8A	ORPHA:3320
HP:0000151	Aplasia of the uterus	9939	RBM8A	OMIM:274000
HP:0000151	Aplasia of the uterus	114034	TOE1	ORPHA:284339
HP:0000151	Aplasia of the uterus	9562	MINPP1	ORPHA:284339
HP:0000151	Aplasia of the uterus	8626	TP63	ORPHA:69085
HP:0000151	Aplasia of the uterus	367	AR	ORPHA:90797
HP:0000151	Aplasia of the uterus	367	AR	ORPHA:99429
HP:0000151	Aplasia of the uterus	5518	PPP2R1A	ORPHA:457284
HP:0000151	Aplasia of the uterus	53834	FGFRL1	OMIM:194190
HP:0000151	Aplasia of the uterus	1487	CTBP1	OMIM:194190
HP:0000151	Aplasia of the uterus	3954	LETM1	OMIM:194190
HP:0000151	Aplasia of the uterus	7468	NSD2	OMIM:194190
HP:0000151	Aplasia of the uterus	10815	CPLX1	OMIM:194190
HP:0000151	Aplasia of the uterus	1586	CYP17A1	ORPHA:90793
HP:0000152	Abnormality of head or neck	6948	TCN2	OMIM:275350
HP:0000152	Abnormality of head or neck	114327	EFHC1	ORPHA:307
HP:0000152	Abnormality of head or neck	114327	EFHC1	ORPHA:1941
HP:0000152	Abnormality of head or neck	3786	KCNQ3	ORPHA:307
HP:0000152	Abnormality of head or neck	8629	JRK	ORPHA:307
HP:0000152	Abnormality of head or neck	785	CACNB4	ORPHA:307
HP:0000152	Abnormality of head or neck	9378	NRXN1	OMIM:614325
HP:0000152	Abnormality of head or neck	5970	RELA	OMIM:618287
HP:0000152	Abnormality of head or neck	7128	TNFAIP3	OMIM:616744
HP:0000152	Abnormality of head or neck	6696	SPP1	ORPHA:93552
HP:0000152	Abnormality of head or neck	3654	IRAK1	ORPHA:93552
HP:0000152	Abnormality of head or neck	3575	IL7R	OMIM:608971
HP:0000152	Abnormality of head or neck	3575	IL7R	ORPHA:169154
HP:0000152	Abnormality of head or neck	51284	TLR7	OMIM:301080
HP:0000152	Abnormality of head or neck	2000	ELF4	OMIM:301074
HP:0000152	Abnormality of head or neck	8737	RIPK1	OMIM:618852
HP:0000152	Abnormality of head or neck	939	CD27	OMIM:615122
HP:0000152	Abnormality of head or neck	3587	IL10RA	OMIM:613148
HP:0000152	Abnormality of head or neck	51422	PRKAG2	OMIM:261740
HP:0000152	Abnormality of head or neck	346171	ZFP57	ORPHA:99886
HP:0000152	Abnormality of head or neck	112812	FDX2	OMIM:251900
HP:0000152	Abnormality of head or neck	57570	TRMT5	OMIM:616539
HP:0000152	Abnormality of head or neck	11107	PRDM5	ORPHA:90354
HP:0000152	Abnormality of head or neck	23586	RIGI	OMIM:616298
HP:0000152	Abnormality of head or neck	189	AGXT	ORPHA:93598
HP:0000152	Abnormality of head or neck	79983	POF1B	OMIM:300604
HP:0000152	Abnormality of head or neck	4014	LORICRIN	OMIM:604117
HP:0000152	Abnormality of head or neck	3229	HOXC13	OMIM:614931
HP:0000152	Abnormality of head or neck	1027	CDKN1B	ORPHA:652
HP:0000152	Abnormality of head or neck	1026	CDKN1A	ORPHA:652
HP:0000152	Abnormality of head or neck	1030	CDKN2B	ORPHA:652
HP:0000152	Abnormality of head or neck	1031	CDKN2C	ORPHA:652
HP:0000152	Abnormality of head or neck	50619	DEF6	OMIM:619573
HP:0000152	Abnormality of head or neck	8883	NAE1	OMIM:620210
HP:0000152	Abnormality of head or neck	124454	EARS2	OMIM:614924
HP:0000152	Abnormality of head or neck	2625	GATA3	ORPHA:2237
HP:0000152	Abnormality of head or neck	2122	MECOM	OMIM:616738
HP:0000152	Abnormality of head or neck	23395	LARS2	OMIM:615300
HP:0000152	Abnormality of head or neck	367	AR	ORPHA:95706
HP:0000152	Abnormality of head or neck	3199	HOXA2	OMIM:612290
HP:0000152	Abnormality of head or neck	93986	FOXP2	ORPHA:209908
HP:0000152	Abnormality of head or neck	55149	MTPAP	ORPHA:254343
HP:0000152	Abnormality of head or neck	9524	TECR	OMIM:614020
HP:0000152	Abnormality of head or neck	1460	CSNK2B	OMIM:618732
HP:0000152	Abnormality of head or neck	5236	PGM1	OMIM:614921
HP:0000152	Abnormality of head or neck	81839	VANGL1	ORPHA:3027
HP:0000152	Abnormality of head or neck	2767	GNA11	ORPHA:1556
HP:0000152	Abnormality of head or neck	151188	ARL6IP6	ORPHA:1556
HP:0000152	Abnormality of head or neck	10413	YAP1	OMIM:120433
HP:0000152	Abnormality of head or neck	11023	VAX1	OMIM:614402
HP:0000152	Abnormality of head or neck	113235	SLC46A1	ORPHA:90045
HP:0000152	Abnormality of head or neck	716	C1S	ORPHA:75392
HP:0000152	Abnormality of head or neck	715	C1R	ORPHA:75392
HP:0000152	Abnormality of head or neck	54757	FAM20A	OMIM:204690
HP:0000152	Abnormality of head or neck	54757	FAM20A	ORPHA:1031
HP:0000152	Abnormality of head or neck	5978	REST	ORPHA:2024
HP:0000152	Abnormality of head or neck	9071	CLDN10	OMIM:617671
HP:0000152	Abnormality of head or neck	64834	ELOVL1	OMIM:618527
HP:0000152	Abnormality of head or neck	25978	CHMP2B	ORPHA:803
HP:0000152	Abnormality of head or neck	8148	TAF15	ORPHA:803
HP:0000152	Abnormality of head or neck	5445	PON2	ORPHA:803
HP:0000152	Abnormality of head or neck	9217	VAPB	ORPHA:803
HP:0000152	Abnormality of head or neck	5630	PRPH	ORPHA:803
HP:0000152	Abnormality of head or neck	55830	GLT8D1	ORPHA:803
HP:0000152	Abnormality of head or neck	755	CFAP410	ORPHA:803
HP:0000152	Abnormality of head or neck	10891	PPARGC1A	ORPHA:803
HP:0000152	Abnormality of head or neck	6647	SOD1	ORPHA:803
HP:0000152	Abnormality of head or neck	5444	PON1	ORPHA:803
HP:0000152	Abnormality of head or neck	5446	PON3	ORPHA:803
HP:0000152	Abnormality of head or neck	4744	NEFH	ORPHA:803
HP:0000152	Abnormality of head or neck	5216	PFN1	ORPHA:803
HP:0000152	Abnormality of head or neck	9782	MATR3	ORPHA:803
HP:0000152	Abnormality of head or neck	54209	TREM2	ORPHA:803
HP:0000152	Abnormality of head or neck	283	ANG	ORPHA:803
HP:0000152	Abnormality of head or neck	23435	TARDBP	ORPHA:803
HP:0000152	Abnormality of head or neck	29978	UBQLN2	ORPHA:803
HP:0000152	Abnormality of head or neck	2043	EPHA4	ORPHA:803
HP:0000152	Abnormality of head or neck	1610	DAO	ORPHA:803
HP:0000152	Abnormality of head or neck	2066	ERBB4	ORPHA:803
HP:0000152	Abnormality of head or neck	23025	UNC13A	ORPHA:803
HP:0000152	Abnormality of head or neck	899	CCNF	ORPHA:803
HP:0000152	Abnormality of head or neck	1131	CHRM3	OMIM:100100
HP:0000152	Abnormality of head or neck	1235	CCR6	ORPHA:220393
HP:0000152	Abnormality of head or neck	1490	CCN2	ORPHA:220393
HP:0000152	Abnormality of head or neck	3663	IRF5	ORPHA:220393
HP:0000152	Abnormality of head or neck	23259	DDHD2	OMIM:615033
HP:0000152	Abnormality of head or neck	23259	DDHD2	ORPHA:320380
HP:0000152	Abnormality of head or neck	51434	ANAPC7	OMIM:619699
HP:0000152	Abnormality of head or neck	84068	SLC10A7	OMIM:618363
HP:0000152	Abnormality of head or neck	55687	TRMU	ORPHA:254864
HP:0000152	Abnormality of head or neck	9325	TRIP4	OMIM:617066
HP:0000152	Abnormality of head or neck	9325	TRIP4	ORPHA:486815
HP:0000152	Abnormality of head or neck	9325	TRIP4	OMIM:616866
HP:0000152	Abnormality of head or neck	65055	REEP1	OMIM:620011
HP:0000152	Abnormality of head or neck	5784	PTPN14	OMIM:613611
HP:0000152	Abnormality of head or neck	79875	THSD4	OMIM:619825
HP:0000152	Abnormality of head or neck	4053	LTBP2	OMIM:251750
HP:0000152	Abnormality of head or neck	5283	PIGH	OMIM:618010
HP:0000152	Abnormality of head or neck	84896	ATAD1	OMIM:618011
HP:0000152	Abnormality of head or neck	84905	ZNF341	OMIM:618282
HP:0000152	Abnormality of head or neck	84987	COX14	OMIM:619053
HP:0000152	Abnormality of head or neck	667	DST	OMIM:614653
HP:0000152	Abnormality of head or neck	9698	PUM1	OMIM:617931
HP:0000152	Abnormality of head or neck	2335	FN1	ORPHA:93315
HP:0000152	Abnormality of head or neck	1185	CLCN6	OMIM:619173
HP:0000152	Abnormality of head or neck	10352	WARS2	ORPHA:572798
HP:0000152	Abnormality of head or neck	4692	NDN	ORPHA:177901
HP:0000152	Abnormality of head or neck	10551	AGR2	OMIM:620233
HP:0000152	Abnormality of head or neck	51780	KDM3B	OMIM:618846
HP:0000152	Abnormality of head or neck	26525	IL36RN	OMIM:614204
HP:0000152	Abnormality of head or neck	8518	ELP1	OMIM:223900
HP:0000152	Abnormality of head or neck	2243	FGA	OMIM:202400
HP:0000152	Abnormality of head or neck	2243	FGA	ORPHA:98880
HP:0000152	Abnormality of head or neck	2243	FGA	ORPHA:98881
HP:0000152	Abnormality of head or neck	2243	FGA	ORPHA:101041
HP:0000152	Abnormality of head or neck	2244	FGB	OMIM:202400
HP:0000152	Abnormality of head or neck	2244	FGB	ORPHA:98880
HP:0000152	Abnormality of head or neck	2244	FGB	ORPHA:98881
HP:0000152	Abnormality of head or neck	2244	FGB	ORPHA:101041
HP:0000152	Abnormality of head or neck	2266	FGG	OMIM:202400
HP:0000152	Abnormality of head or neck	2266	FGG	ORPHA:98880
HP:0000152	Abnormality of head or neck	2266	FGG	ORPHA:98881
HP:0000152	Abnormality of head or neck	2266	FGG	ORPHA:101041
HP:0000152	Abnormality of head or neck	10068	IL18BP	OMIM:618549
HP:0000152	Abnormality of head or neck	3257	HPS1	OMIM:203300
HP:0000152	Abnormality of head or neck	5345	SERPINF2	ORPHA:79
HP:0000152	Abnormality of head or neck	388552	BLOC1S3	OMIM:614077
HP:0000152	Abnormality of head or neck	3998	LMAN1	ORPHA:35909
HP:0000152	Abnormality of head or neck	90411	MCFD2	ORPHA:35909
HP:0000152	Abnormality of head or neck	2162	F13A1	OMIM:613225
HP:0000152	Abnormality of head or neck	2162	F13A1	ORPHA:331
HP:0000152	Abnormality of head or neck	2165	F13B	ORPHA:331
HP:0000152	Abnormality of head or neck	9493	KIF23	ORPHA:98870
HP:0000152	Abnormality of head or neck	29127	RACGAP1	ORPHA:98870
HP:0000152	Abnormality of head or neck	63915	BLOC1S5	OMIM:619172
HP:0000152	Abnormality of head or neck	5551	PRF1	ORPHA:88
HP:0000152	Abnormality of head or neck	2159	F10	OMIM:227600
HP:0000152	Abnormality of head or neck	2159	F10	ORPHA:328
HP:0000152	Abnormality of head or neck	2157	F8	ORPHA:169805
HP:0000152	Abnormality of head or neck	3717	JAK2	ORPHA:729
HP:0000152	Abnormality of head or neck	54790	TET2	ORPHA:729
HP:0000152	Abnormality of head or neck	2147	F2	OMIM:613679
HP:0000152	Abnormality of head or neck	9103	FCGR2C	ORPHA:3002
HP:0000152	Abnormality of head or neck	2155	F7	ORPHA:327
HP:0000152	Abnormality of head or neck	2153	F5	ORPHA:326
HP:0000152	Abnormality of head or neck	950	SCARB2	ORPHA:77259
HP:0000152	Abnormality of head or neck	3689	ITGB2	OMIM:116920
HP:0000152	Abnormality of head or neck	340024	SLC6A19	ORPHA:2116
HP:0000152	Abnormality of head or neck	57393	CLTRN	ORPHA:2116
HP:0000152	Abnormality of head or neck	847	CAT	ORPHA:926
HP:0000152	Abnormality of head or neck	2672	GFI1	ORPHA:486
HP:0000152	Abnormality of head or neck	54809	SAMD9	OMIM:610455
HP:0000152	Abnormality of head or neck	1075	CTSC	ORPHA:678
HP:0000152	Abnormality of head or neck	151516	ASPRV1	ORPHA:313
HP:0000152	Abnormality of head or neck	242	ALOX12B	ORPHA:313
HP:0000152	Abnormality of head or neck	242	ALOX12B	OMIM:242100
HP:0000152	Abnormality of head or neck	126410	CYP4F22	ORPHA:313
HP:0000152	Abnormality of head or neck	6820	SULT2B1	ORPHA:313
HP:0000152	Abnormality of head or neck	643418	LIPN	ORPHA:313
HP:0000152	Abnormality of head or neck	348938	NIPAL4	ORPHA:313
HP:0000152	Abnormality of head or neck	121214	SDR9C7	ORPHA:313
HP:0000152	Abnormality of head or neck	65992	DDRGK1	OMIM:602557
HP:0000152	Abnormality of head or neck	2735	GLI1	ORPHA:289
HP:0000152	Abnormality of head or neck	79577	CDC73	OMIM:145001
HP:0000152	Abnormality of head or neck	23114	NFASC	OMIM:618356
HP:0000152	Abnormality of head or neck	60386	SLC25A19	OMIM:607196
HP:0000152	Abnormality of head or neck	3975	LHX1	ORPHA:261265
HP:0000152	Abnormality of head or neck	6928	HNF1B	ORPHA:261265
HP:0000152	Abnormality of head or neck	79053	ALG8	OMIM:608104
HP:0000152	Abnormality of head or neck	56052	ALG1	OMIM:608540
HP:0000152	Abnormality of head or neck	23229	ARHGEF9	ORPHA:163985
HP:0000152	Abnormality of head or neck	23229	ARHGEF9	OMIM:300607
HP:0000152	Abnormality of head or neck	84823	LMNB2	OMIM:619180
HP:0000152	Abnormality of head or neck	100	ADA	ORPHA:277
HP:0000152	Abnormality of head or neck	100	ADA	OMIM:102700
HP:0000152	Abnormality of head or neck	4860	PNP	OMIM:613179
HP:0000152	Abnormality of head or neck	3561	IL2RG	OMIM:312863
HP:0000152	Abnormality of head or neck	1536	CYBB	ORPHA:379
HP:0000152	Abnormality of head or neck	4688	NCF2	ORPHA:379
HP:0000152	Abnormality of head or neck	1535	CYBA	ORPHA:379
HP:0000152	Abnormality of head or neck	4689	NCF4	ORPHA:379
HP:0000152	Abnormality of head or neck	79415	CYBC1	ORPHA:379
HP:0000152	Abnormality of head or neck	51119	SBDS	ORPHA:811
HP:0000152	Abnormality of head or neck	6729	SRP54	ORPHA:811
HP:0000152	Abnormality of head or neck	695	BTK	ORPHA:47
HP:0000152	Abnormality of head or neck	695	BTK	OMIM:307200
HP:0000152	Abnormality of head or neck	5994	RFXAP	ORPHA:572
HP:0000152	Abnormality of head or neck	4261	CIITA	ORPHA:572
HP:0000152	Abnormality of head or neck	5993	RFX5	ORPHA:572
HP:0000152	Abnormality of head or neck	8625	RFXANK	ORPHA:572
HP:0000152	Abnormality of head or neck	3394	IRF8	OMIM:226990
HP:0000152	Abnormality of head or neck	7852	CXCR4	ORPHA:51636
HP:0000152	Abnormality of head or neck	54476	RNF216	ORPHA:1173
HP:0000152	Abnormality of head or neck	60681	FKBP10	OMIM:610968
HP:0000152	Abnormality of head or neck	23495	TNFRSF13B	ORPHA:1572
HP:0000152	Abnormality of head or neck	4790	NFKB1	ORPHA:1572
HP:0000152	Abnormality of head or neck	115650	TNFRSF13C	ORPHA:1572
HP:0000152	Abnormality of head or neck	1380	CR2	ORPHA:1572
HP:0000152	Abnormality of head or neck	8742	TNFSF12	ORPHA:1572
HP:0000152	Abnormality of head or neck	5580	PRKCD	ORPHA:1572
HP:0000152	Abnormality of head or neck	930	CD19	ORPHA:1572
HP:0000152	Abnormality of head or neck	29851	ICOS	ORPHA:1572
HP:0000152	Abnormality of head or neck	931	MS4A1	ORPHA:1572
HP:0000152	Abnormality of head or neck	975	CD81	ORPHA:1572
HP:0000152	Abnormality of head or neck	10771	ZMYND11	OMIM:616083
HP:0000152	Abnormality of head or neck	51399	TRAPPC4	OMIM:618741
HP:0000152	Abnormality of head or neck	51569	UFM1	OMIM:617899
HP:0000152	Abnormality of head or neck	166378	AFG2A	OMIM:616577
HP:0000152	Abnormality of head or neck	84520	GON7	OMIM:619603
HP:0000152	Abnormality of head or neck	79693	YRDC	OMIM:619609
HP:0000152	Abnormality of head or neck	6884	TAF13	OMIM:617432
HP:0000152	Abnormality of head or neck	6884	TAF13	ORPHA:2512
HP:0000152	Abnormality of head or neck	10111	RAD50	OMIM:613078
HP:0000152	Abnormality of head or neck	55131	RBM28	ORPHA:157954
HP:0000152	Abnormality of head or neck	55131	RBM28	OMIM:612079
HP:0000152	Abnormality of head or neck	55621	TRMT1	OMIM:618302
HP:0000152	Abnormality of head or neck	6305	SBF1	OMIM:615284
HP:0000152	Abnormality of head or neck	3800	KIF5C	OMIM:615282
HP:0000152	Abnormality of head or neck	2232	FDXR	ORPHA:543470
HP:0000152	Abnormality of head or neck	2904	GRIN2B	OMIM:616139
HP:0000152	Abnormality of head or neck	2904	GRIN2B	OMIM:613970
HP:0000152	Abnormality of head or neck	5917	RARS1	OMIM:616140
HP:0000152	Abnormality of head or neck	5917	RARS1	ORPHA:438114
HP:0000152	Abnormality of head or neck	54916	TMEM260	OMIM:617478
HP:0000152	Abnormality of head or neck	120	ADD3	OMIM:617008
HP:0000152	Abnormality of head or neck	3155	HMGCL	ORPHA:20
HP:0000152	Abnormality of head or neck	3155	HMGCL	OMIM:246450
HP:0000152	Abnormality of head or neck	154881	KCTD7	OMIM:611726
HP:0000152	Abnormality of head or neck	154881	KCTD7	ORPHA:263516
HP:0000152	Abnormality of head or neck	3054	HCFC1	OMIM:309541
HP:0000152	Abnormality of head or neck	2019	EN1	OMIM:619218
HP:0000152	Abnormality of head or neck	3431	SP110	OMIM:235550
HP:0000152	Abnormality of head or neck	3431	SP110	ORPHA:79124
HP:0000152	Abnormality of head or neck	51608	GET4	OMIM:620200
HP:0000152	Abnormality of head or neck	8802	SUCLG1	ORPHA:17
HP:0000152	Abnormality of head or neck	2707	GJB3	ORPHA:317
HP:0000152	Abnormality of head or neck	2531	KDSR	ORPHA:317
HP:0000152	Abnormality of head or neck	127534	GJB4	ORPHA:317
HP:0000152	Abnormality of head or neck	3028	HSD17B10	ORPHA:391428
HP:0000152	Abnormality of head or neck	84265	POLR3GL	OMIM:619234
HP:0000152	Abnormality of head or neck	8452	CUL3	OMIM:619239
HP:0000152	Abnormality of head or neck	201595	STT3B	ORPHA:370924
HP:0000152	Abnormality of head or neck	201595	STT3B	OMIM:615597
HP:0000152	Abnormality of head or neck	10436	EMG1	OMIM:211180
HP:0000152	Abnormality of head or neck	10436	EMG1	ORPHA:1270
HP:0000152	Abnormality of head or neck	6748	SSR4	ORPHA:370927
HP:0000152	Abnormality of head or neck	6748	SSR4	OMIM:300934
HP:0000152	Abnormality of head or neck	1315	COPB1	OMIM:619255
HP:0000152	Abnormality of head or neck	81615	TMEM163	OMIM:620243
HP:0000152	Abnormality of head or neck	116150	NUS1	OMIM:617082
HP:0000152	Abnormality of head or neck	116150	NUS1	ORPHA:442835
HP:0000152	Abnormality of head or neck	64374	SIL1	OMIM:248800
HP:0000152	Abnormality of head or neck	64374	SIL1	ORPHA:559
HP:0000152	Abnormality of head or neck	26960	NBEA	OMIM:619157
HP:0000152	Abnormality of head or neck	781	CACNA2D1	OMIM:620149
HP:0000152	Abnormality of head or neck	781	CACNA2D1	ORPHA:442835
HP:0000152	Abnormality of head or neck	10093	ARPC4	OMIM:620141
HP:0000152	Abnormality of head or neck	9640	ZNF592	ORPHA:83472
HP:0000152	Abnormality of head or neck	224	ALDH3A2	ORPHA:816
HP:0000152	Abnormality of head or neck	3242	HPD	OMIM:140350
HP:0000152	Abnormality of head or neck	338657	CENATAC	OMIM:620153
HP:0000152	Abnormality of head or neck	1738	DLD	ORPHA:2394
HP:0000152	Abnormality of head or neck	1738	DLD	OMIM:246900
HP:0000152	Abnormality of head or neck	92579	G6PC3	OMIM:612541
HP:0000152	Abnormality of head or neck	63894	VIPAS39	OMIM:613404
HP:0000152	Abnormality of head or neck	84947	SERAC1	OMIM:614739
HP:0000152	Abnormality of head or neck	1737	DLAT	OMIM:245348
HP:0000152	Abnormality of head or neck	1737	DLAT	ORPHA:79244
HP:0000152	Abnormality of head or neck	51567	TDP2	OMIM:616949
HP:0000152	Abnormality of head or neck	9276	COPB2	OMIM:617800
HP:0000152	Abnormality of head or neck	9276	COPB2	OMIM:619884
HP:0000152	Abnormality of head or neck	9276	COPB2	ORPHA:2512
HP:0000152	Abnormality of head or neck	3097	HIVEP2	OMIM:616977
HP:0000152	Abnormality of head or neck	9837	GINS1	OMIM:617827
HP:0000152	Abnormality of head or neck	79840	NHEJ1	ORPHA:169079
HP:0000152	Abnormality of head or neck	26227	PHGDH	ORPHA:79351
HP:0000152	Abnormality of head or neck	6697	SPR	ORPHA:70594
HP:0000152	Abnormality of head or neck	6697	SPR	OMIM:612716
HP:0000152	Abnormality of head or neck	953	ENTPD1	OMIM:615683
HP:0000152	Abnormality of head or neck	953	ENTPD1	ORPHA:401810
HP:0000152	Abnormality of head or neck	54802	TRIT1	OMIM:617873
HP:0000152	Abnormality of head or neck	55733	HHAT	ORPHA:1422
HP:0000152	Abnormality of head or neck	55733	HHAT	OMIM:600092
HP:0000152	Abnormality of head or neck	84700	MYO18B	OMIM:616549
HP:0000152	Abnormality of head or neck	8086	AAAS	OMIM:231550
HP:0000152	Abnormality of head or neck	8086	AAAS	ORPHA:869
HP:0000152	Abnormality of head or neck	51075	TMX2	OMIM:618730
HP:0000152	Abnormality of head or neck	51763	INPP5K	OMIM:617404
HP:0000152	Abnormality of head or neck	51763	INPP5K	ORPHA:559
HP:0000152	Abnormality of head or neck	6873	TAF2	OMIM:615599
HP:0000152	Abnormality of head or neck	10559	SLC35A1	OMIM:603585
HP:0000152	Abnormality of head or neck	80153	EDC3	OMIM:616460
HP:0000152	Abnormality of head or neck	91869	RFT1	ORPHA:244310
HP:0000152	Abnormality of head or neck	91869	RFT1	OMIM:612015
HP:0000152	Abnormality of head or neck	9213	XPR1	ORPHA:1980
HP:0000152	Abnormality of head or neck	57462	MYORG	ORPHA:1980
HP:0000152	Abnormality of head or neck	58494	JAM2	ORPHA:1980
HP:0000152	Abnormality of head or neck	3737	KCNA2	ORPHA:442835
HP:0000152	Abnormality of head or neck	10991	SLC38A3	ORPHA:442835
HP:0000152	Abnormality of head or neck	10991	SLC38A3	OMIM:619881
HP:0000152	Abnormality of head or neck	51343	FZR1	ORPHA:442835
HP:0000152	Abnormality of head or neck	22906	TRAK1	ORPHA:442835
HP:0000152	Abnormality of head or neck	22906	TRAK1	OMIM:618201
HP:0000152	Abnormality of head or neck	2566	GABRG2	ORPHA:442835
HP:0000152	Abnormality of head or neck	2561	GABRB2	ORPHA:442835
HP:0000152	Abnormality of head or neck	7532	YWHAG	ORPHA:442835
HP:0000152	Abnormality of head or neck	2558	GABRA5	ORPHA:442835
HP:0000152	Abnormality of head or neck	2906	GRIN2D	ORPHA:442835
HP:0000152	Abnormality of head or neck	2906	GRIN2D	OMIM:617162
HP:0000152	Abnormality of head or neck	10659	CELF2	ORPHA:442835
HP:0000152	Abnormality of head or neck	774	CACNA1B	ORPHA:442835
HP:0000152	Abnormality of head or neck	1213	CLTC	ORPHA:442835
HP:0000152	Abnormality of head or neck	23334	SZT2	ORPHA:442835
HP:0000152	Abnormality of head or neck	51412	ACTL6B	ORPHA:442835
HP:0000152	Abnormality of head or neck	51412	ACTL6B	OMIM:618468
HP:0000152	Abnormality of head or neck	51412	ACTL6B	OMIM:618470
HP:0000152	Abnormality of head or neck	348980	HCN1	ORPHA:442835
HP:0000152	Abnormality of head or neck	348980	HCN1	OMIM:618482
HP:0000152	Abnormality of head or neck	6506	SLC1A2	ORPHA:442835
HP:0000152	Abnormality of head or neck	6506	SLC1A2	OMIM:617105
HP:0000152	Abnormality of head or neck	2258	FGF13	ORPHA:442835
HP:0000152	Abnormality of head or neck	3745	KCNB1	ORPHA:442835
HP:0000152	Abnormality of head or neck	284111	SLC13A5	ORPHA:442835
HP:0000152	Abnormality of head or neck	284111	SLC13A5	OMIM:615905
HP:0000152	Abnormality of head or neck	25977	NECAP1	ORPHA:442835
HP:0000152	Abnormality of head or neck	22866	CNKSR2	ORPHA:442835
HP:0000152	Abnormality of head or neck	2555	GABRA2	ORPHA:442835
HP:0000152	Abnormality of head or neck	2555	GABRA2	OMIM:618557
HP:0000152	Abnormality of head or neck	55152	DALRD3	ORPHA:442835
HP:0000152	Abnormality of head or neck	55152	DALRD3	OMIM:618910
HP:0000152	Abnormality of head or neck	4915	NTRK2	ORPHA:442835
HP:0000152	Abnormality of head or neck	64801	ARV1	ORPHA:442835
HP:0000152	Abnormality of head or neck	79947	DHDDS	ORPHA:442835
HP:0000152	Abnormality of head or neck	2257	FGF12	ORPHA:442835
HP:0000152	Abnormality of head or neck	7862	BRPF1	OMIM:617333
HP:0000152	Abnormality of head or neck	7385	UQCRC2	OMIM:615160
HP:0000152	Abnormality of head or neck	9922	IQSEC1	OMIM:618687
HP:0000152	Abnormality of head or neck	29893	PSMC3IP	ORPHA:243
HP:0000152	Abnormality of head or neck	171568	POLR3H	ORPHA:243
HP:0000152	Abnormality of head or neck	2516	NR5A1	ORPHA:243
HP:0000152	Abnormality of head or neck	125150	ZSWIM7	ORPHA:243
HP:0000152	Abnormality of head or neck	9210	BMP15	ORPHA:243
HP:0000152	Abnormality of head or neck	23514	SPIDR	ORPHA:243
HP:0000152	Abnormality of head or neck	2492	FSHR	ORPHA:243
HP:0000152	Abnormality of head or neck	646	BNC1	ORPHA:243
HP:0000152	Abnormality of head or neck	133686	NADK2	OMIM:616034
HP:0000152	Abnormality of head or neck	133686	NADK2	ORPHA:431361
HP:0000152	Abnormality of head or neck	498	ATP5F1A	OMIM:616045
HP:0000152	Abnormality of head or neck	4729	NDUFV2	OMIM:618229
HP:0000152	Abnormality of head or neck	4729	NDUFV2	ORPHA:2609
HP:0000152	Abnormality of head or neck	4695	NDUFA2	OMIM:618235
HP:0000152	Abnormality of head or neck	11274	USP18	OMIM:617397
HP:0000152	Abnormality of head or neck	2898	GRIK2	OMIM:619580
HP:0000152	Abnormality of head or neck	55526	DHTKD1	OMIM:204750
HP:0000152	Abnormality of head or neck	90522	YIF1B	OMIM:619125
HP:0000152	Abnormality of head or neck	55755	CDK5RAP2	OMIM:604804
HP:0000152	Abnormality of head or neck	55755	CDK5RAP2	ORPHA:2512
HP:0000152	Abnormality of head or neck	90416	CCDC32	OMIM:619123
HP:0000152	Abnormality of head or neck	3739	KCNA4	OMIM:618284
HP:0000152	Abnormality of head or neck	3735	KARS1	OMIM:619147
HP:0000152	Abnormality of head or neck	8665	EIF3F	OMIM:618295
HP:0000152	Abnormality of head or neck	221692	PHACTR1	OMIM:618298
HP:0000152	Abnormality of head or neck	10134	BCAP31	OMIM:300475
HP:0000152	Abnormality of head or neck	10134	BCAP31	ORPHA:369939
HP:0000152	Abnormality of head or neck	7109	TRAPPC10	OMIM:620027
HP:0000152	Abnormality of head or neck	7109	TRAPPC10	ORPHA:2512
HP:0000152	Abnormality of head or neck	55325	UFSP2	OMIM:620028
HP:0000152	Abnormality of head or neck	1119	CHKA	OMIM:620023
HP:0000152	Abnormality of head or neck	5111	PCNA	OMIM:615919
HP:0000152	Abnormality of head or neck	5111	PCNA	ORPHA:438134
HP:0000152	Abnormality of head or neck	57176	VARS2	OMIM:615917
HP:0000152	Abnormality of head or neck	5689	PSMB1	OMIM:620038
HP:0000152	Abnormality of head or neck	1351	COX8A	OMIM:619059
HP:0000152	Abnormality of head or neck	100131801	PET100	OMIM:619055
HP:0000152	Abnormality of head or neck	5591	PRKDC	OMIM:615966
HP:0000152	Abnormality of head or neck	25828	TXN2	OMIM:616811
HP:0000152	Abnormality of head or neck	197322	ACSF3	ORPHA:289504
HP:0000152	Abnormality of head or neck	63925	ZNF335	ORPHA:329228
HP:0000152	Abnormality of head or neck	1828	DSG1	OMIM:615508
HP:0000152	Abnormality of head or neck	549	AUH	ORPHA:67046
HP:0000152	Abnormality of head or neck	6301	SARS1	OMIM:617709
HP:0000152	Abnormality of head or neck	55997	CFC1	OMIM:605376
HP:0000152	Abnormality of head or neck	26224	FBXL3	OMIM:606220
HP:0000152	Abnormality of head or neck	80185	TTI2	OMIM:615541
HP:0000152	Abnormality of head or neck	80185	TTI2	ORPHA:391307
HP:0000152	Abnormality of head or neck	23443	SLC35A3	OMIM:615553
HP:0000152	Abnormality of head or neck	54805	CNNM2	OMIM:616418
HP:0000152	Abnormality of head or neck	1376	CPT2	OMIM:608836
HP:0000152	Abnormality of head or neck	9439	MED23	OMIM:614249
HP:0000152	Abnormality of head or neck	6777	STAT5B	OMIM:618985
HP:0000152	Abnormality of head or neck	23498	HAAO	OMIM:617660
HP:0000152	Abnormality of head or neck	387787	LIPT2	OMIM:617668
HP:0000152	Abnormality of head or neck	3149	HMGB3	OMIM:300915
HP:0000152	Abnormality of head or neck	51112	TRAPPC12	OMIM:617669
HP:0000152	Abnormality of head or neck	284403	WDR62	OMIM:604317
HP:0000152	Abnormality of head or neck	284403	WDR62	ORPHA:2512
HP:0000152	Abnormality of head or neck	23250	ATP11A	OMIM:619851
HP:0000152	Abnormality of head or neck	1716	DGUOK	OMIM:251880
HP:0000152	Abnormality of head or neck	788	SLC25A20	ORPHA:159
HP:0000152	Abnormality of head or neck	55773	TBC1D23	OMIM:617695
HP:0000152	Abnormality of head or neck	116115	ZNF526	OMIM:619877
HP:0000152	Abnormality of head or neck	3798	KIF5A	OMIM:617235
HP:0000152	Abnormality of head or neck	165918	RNF168	OMIM:611943
HP:0000152	Abnormality of head or neck	165918	RNF168	ORPHA:420741
HP:0000152	Abnormality of head or neck	84894	LINGO1	OMIM:618103
HP:0000152	Abnormality of head or neck	123606	NIPA1	ORPHA:261183
HP:0000152	Abnormality of head or neck	7283	TUBG1	ORPHA:261183
HP:0000152	Abnormality of head or neck	7283	TUBG1	OMIM:615412
HP:0000152	Abnormality of head or neck	81614	NIPA2	ORPHA:261183
HP:0000152	Abnormality of head or neck	3778	KCNMA1	OMIM:618596
HP:0000152	Abnormality of head or neck	112939	NACC1	ORPHA:500545
HP:0000152	Abnormality of head or neck	27341	RRP7A	OMIM:619453
HP:0000152	Abnormality of head or neck	6821	SUOX	OMIM:272300
HP:0000152	Abnormality of head or neck	92949	ADAMTSL1	ORPHA:521445
HP:0000152	Abnormality of head or neck	84065	TMEM222	OMIM:619470
HP:0000152	Abnormality of head or neck	60676	PAPPA2	OMIM:619489
HP:0000152	Abnormality of head or neck	7284	TUFM	OMIM:610678
HP:0000152	Abnormality of head or neck	407975	MIR17HG	ORPHA:391646
HP:0000152	Abnormality of head or neck	63899	NSUN3	OMIM:619012
HP:0000152	Abnormality of head or neck	54936	ADPRS	OMIM:618170
HP:0000152	Abnormality of head or neck	64432	MRPS25	OMIM:619025
HP:0000152	Abnormality of head or neck	8270	LAGE3	ORPHA:2065
HP:0000152	Abnormality of head or neck	123263	MTFMT	OMIM:614947
HP:0000152	Abnormality of head or neck	4552	MTRR	ORPHA:2169
HP:0000152	Abnormality of head or neck	57582	KCNT1	OMIM:614959
HP:0000152	Abnormality of head or neck	1509	CTSD	OMIM:610127
HP:0000152	Abnormality of head or neck	23325	WASHC4	OMIM:615817
HP:0000152	Abnormality of head or neck	57531	HACE1	ORPHA:464282
HP:0000152	Abnormality of head or neck	57531	HACE1	OMIM:616756
HP:0000152	Abnormality of head or neck	7156	TOP3A	OMIM:618097
HP:0000152	Abnormality of head or neck	10056	FARSB	OMIM:613658
HP:0000152	Abnormality of head or neck	219285	SAMD9L	ORPHA:2585
HP:0000152	Abnormality of head or neck	27238	GPKOW	ORPHA:2570
HP:0000152	Abnormality of head or neck	3176	HNMT	OMIM:616739
HP:0000152	Abnormality of head or neck	3796	KIF2A	OMIM:615411
HP:0000152	Abnormality of head or neck	1911	PHC1	OMIM:615414
HP:0000152	Abnormality of head or neck	1911	PHC1	ORPHA:2512
HP:0000152	Abnormality of head or neck	100506658	OCLN	ORPHA:1229
HP:0000152	Abnormality of head or neck	100506658	OCLN	OMIM:251290
HP:0000152	Abnormality of head or neck	81689	ISCA1	OMIM:617613
HP:0000152	Abnormality of head or neck	64857	PLEKHG2	OMIM:616763
HP:0000152	Abnormality of head or neck	7343	UBTF	ORPHA:500180
HP:0000152	Abnormality of head or neck	60528	ELAC2	OMIM:615440
HP:0000152	Abnormality of head or neck	28957	MRPS28	OMIM:618958
HP:0000152	Abnormality of head or neck	259266	ASPM	OMIM:608716
HP:0000152	Abnormality of head or neck	259266	ASPM	ORPHA:2512
HP:0000152	Abnormality of head or neck	7991	TUSC3	OMIM:611093
HP:0000152	Abnormality of head or neck	1804	DPP6	ORPHA:2514
HP:0000152	Abnormality of head or neck	1804	DPP6	OMIM:616311
HP:0000152	Abnormality of head or neck	8192	CLPP	OMIM:614129
HP:0000152	Abnormality of head or neck	9928	KIF14	ORPHA:2512
HP:0000152	Abnormality of head or neck	9928	KIF14	OMIM:616258
HP:0000152	Abnormality of head or neck	9928	KIF14	OMIM:617914
HP:0000152	Abnormality of head or neck	55262	TRAPPC14	ORPHA:2512
HP:0000152	Abnormality of head or neck	163786	SASS6	ORPHA:2512
HP:0000152	Abnormality of head or neck	4176	MCM7	ORPHA:2512
HP:0000152	Abnormality of head or neck	80254	CEP63	ORPHA:2512
HP:0000152	Abnormality of head or neck	23310	NCAPD3	ORPHA:2512
HP:0000152	Abnormality of head or neck	23310	NCAPD3	OMIM:617984
HP:0000152	Abnormality of head or neck	79648	MCPH1	ORPHA:2512
HP:0000152	Abnormality of head or neck	23141	ANKLE2	ORPHA:2512
HP:0000152	Abnormality of head or neck	57082	KNL1	ORPHA:2512
HP:0000152	Abnormality of head or neck	1021	CDK6	ORPHA:2512
HP:0000152	Abnormality of head or neck	10749	KIF1C	ORPHA:397946
HP:0000152	Abnormality of head or neck	51103	NDUFAF1	ORPHA:2609
HP:0000152	Abnormality of head or neck	91942	NDUFAF2	ORPHA:2609
HP:0000152	Abnormality of head or neck	55572	FOXRED1	ORPHA:2609
HP:0000152	Abnormality of head or neck	284184	NDUFAF8	ORPHA:2609
HP:0000152	Abnormality of head or neck	55863	TMEM126B	ORPHA:2609
HP:0000152	Abnormality of head or neck	4537	MT-ND3	ORPHA:2609
HP:0000152	Abnormality of head or neck	4694	NDUFA1	ORPHA:2609
HP:0000152	Abnormality of head or neck	4720	NDUFS2	ORPHA:2609
HP:0000152	Abnormality of head or neck	4726	NDUFS6	ORPHA:2609
HP:0000152	Abnormality of head or neck	4728	NDUFS8	ORPHA:2609
HP:0000152	Abnormality of head or neck	4722	NDUFS3	ORPHA:2609
HP:0000152	Abnormality of head or neck	79133	NDUFAF5	ORPHA:2609
HP:0000152	Abnormality of head or neck	126328	NDUFA11	ORPHA:2609
HP:0000152	Abnormality of head or neck	4709	NDUFB3	ORPHA:2609
HP:0000152	Abnormality of head or neck	80224	NUBPL	ORPHA:2609
HP:0000152	Abnormality of head or neck	29078	NDUFAF4	ORPHA:2609
HP:0000152	Abnormality of head or neck	374291	NDUFS7	ORPHA:2609
HP:0000152	Abnormality of head or neck	4700	NDUFA6	ORPHA:2609
HP:0000152	Abnormality of head or neck	4715	NDUFB9	ORPHA:2609
HP:0000152	Abnormality of head or neck	60684	TRAPPC11	OMIM:615356
HP:0000152	Abnormality of head or neck	60684	TRAPPC11	ORPHA:869
HP:0000152	Abnormality of head or neck	60684	TRAPPC11	ORPHA:369840
HP:0000152	Abnormality of head or neck	4056	LTC4S	OMIM:614037
HP:0000152	Abnormality of head or neck	72	ACTG2	ORPHA:2604
HP:0000152	Abnormality of head or neck	472	ATM	OMIM:208900
HP:0000152	Abnormality of head or neck	3781	KCNN2	OMIM:619725
HP:0000152	Abnormality of head or neck	137492	VPS37A	ORPHA:319199
HP:0000152	Abnormality of head or neck	23761	PISD	OMIM:618889
HP:0000152	Abnormality of head or neck	55703	POLR3B	OMIM:619742
HP:0000152	Abnormality of head or neck	25930	PTPN23	OMIM:618890
HP:0000152	Abnormality of head or neck	339983	NAT8L	OMIM:614063
HP:0000152	Abnormality of head or neck	8879	SGPL1	OMIM:617575
HP:0000152	Abnormality of head or neck	8021	NUP214	OMIM:618426
HP:0000152	Abnormality of head or neck	51728	POLR3K	OMIM:619310
HP:0000152	Abnormality of head or neck	85476	GFM1	OMIM:609060
HP:0000152	Abnormality of head or neck	6650	CAPN15	OMIM:619318
HP:0000152	Abnormality of head or neck	256297	PTF1A	OMIM:609069
HP:0000152	Abnormality of head or neck	8869	ST3GAL5	OMIM:609056
HP:0000152	Abnormality of head or neck	79641	ROGDI	OMIM:226750
HP:0000152	Abnormality of head or neck	1781	DYNC1I2	OMIM:618492
HP:0000152	Abnormality of head or neck	191	AHCY	ORPHA:88618
HP:0000152	Abnormality of head or neck	26276	VPS33B	OMIM:208085
HP:0000152	Abnormality of head or neck	10681	GNB5	OMIM:617182
HP:0000152	Abnormality of head or neck	79143	MBOAT7	OMIM:617188
HP:0000152	Abnormality of head or neck	627	BDNF	ORPHA:893
HP:0000152	Abnormality of head or neck	23554	TSPAN12	ORPHA:891
HP:0000152	Abnormality of head or neck	79797	ZNF408	ORPHA:891
HP:0000152	Abnormality of head or neck	4702	NDUFA8	OMIM:619272
HP:0000152	Abnormality of head or neck	27183	VPS4A	OMIM:619273
HP:0000152	Abnormality of head or neck	81555	YIPF5	OMIM:619278
HP:0000152	Abnormality of head or neck	55532	SLC30A10	ORPHA:309854
HP:0000152	Abnormality of head or neck	36	ACADSB	OMIM:610006
HP:0000152	Abnormality of head or neck	51199	NIN	OMIM:614851
HP:0000152	Abnormality of head or neck	51199	NIN	ORPHA:319675
HP:0000152	Abnormality of head or neck	197257	LDHD	OMIM:245450
HP:0000152	Abnormality of head or neck	375748	ERCC6L2	OMIM:615715
HP:0000152	Abnormality of head or neck	2521	FUS	ORPHA:300605
HP:0000152	Abnormality of head or neck	80208	SPG11	ORPHA:300605
HP:0000152	Abnormality of head or neck	10280	SIGMAR1	ORPHA:300605
HP:0000152	Abnormality of head or neck	10558	SPTLC1	ORPHA:300605
HP:0000152	Abnormality of head or neck	162417	NAGS	ORPHA:927
HP:0000152	Abnormality of head or neck	50628	GEMIN4	OMIM:617913
HP:0000152	Abnormality of head or neck	4173	MCM4	OMIM:609981
HP:0000152	Abnormality of head or neck	55187	VPS13D	OMIM:607317
HP:0000152	Abnormality of head or neck	79631	EFL1	OMIM:617941
HP:0000152	Abnormality of head or neck	2058	EPRS1	OMIM:617951
HP:0000152	Abnormality of head or neck	20	ABCA2	OMIM:618808
HP:0000152	Abnormality of head or neck	1729	DIAPH1	OMIM:616632
HP:0000152	Abnormality of head or neck	6785	ELOVL4	OMIM:614457
HP:0000152	Abnormality of head or neck	27010	TPK1	OMIM:614458
HP:0000152	Abnormality of head or neck	2584	GALK1	ORPHA:79237
HP:0000152	Abnormality of head or neck	11019	LIAS	OMIM:614462
HP:0000152	Abnormality of head or neck	3704	ITPA	OMIM:616647
HP:0000152	Abnormality of head or neck	56270	WDR45B	OMIM:617977
HP:0000152	Abnormality of head or neck	54870	QRICH1	OMIM:617982
HP:0000152	Abnormality of head or neck	23397	NCAPH	OMIM:617985
HP:0000152	Abnormality of head or neck	51733	UPB1	OMIM:613161
HP:0000152	Abnormality of head or neck	23001	WDFY3	OMIM:617520
HP:0000152	Abnormality of head or neck	79587	CARS2	OMIM:616672
HP:0000152	Abnormality of head or neck	91452	ACBD5	OMIM:618863
HP:0000152	Abnormality of head or neck	84879	MFSD2A	OMIM:616486
HP:0000152	Abnormality of head or neck	10564	ARFGEF2	OMIM:608097
HP:0000152	Abnormality of head or neck	4719	NDUFS1	OMIM:618226
HP:0000152	Abnormality of head or neck	23287	AGTPBP1	ORPHA:2254
HP:0000152	Abnormality of head or neck	91137	SLC25A46	ORPHA:2254
HP:0000152	Abnormality of head or neck	51091	SEPSECS	OMIM:613811
HP:0000152	Abnormality of head or neck	51091	SEPSECS	ORPHA:2524
HP:0000152	Abnormality of head or neck	22845	DOLK	ORPHA:91131
HP:0000152	Abnormality of head or neck	132158	GLYCTK	ORPHA:941
HP:0000152	Abnormality of head or neck	122553	TRAPPC6B	OMIM:617862
HP:0000152	Abnormality of head or neck	116461	TSEN15	OMIM:617026
HP:0000152	Abnormality of head or neck	116461	TSEN15	ORPHA:2524
HP:0000152	Abnormality of head or neck	79042	TSEN34	ORPHA:2524
HP:0000152	Abnormality of head or neck	80746	TSEN2	ORPHA:2524
HP:0000152	Abnormality of head or neck	80746	TSEN2	OMIM:612389
HP:0000152	Abnormality of head or neck	6334	SCN8A	OMIM:614558
HP:0000152	Abnormality of head or neck	50	ACO2	OMIM:614559
HP:0000152	Abnormality of head or neck	57038	RARS2	OMIM:611523
HP:0000152	Abnormality of head or neck	54862	CC2D1A	OMIM:608443
HP:0000152	Abnormality of head or neck	2891	GRIA2	OMIM:618917
HP:0000152	Abnormality of head or neck	63908	NAPB	OMIM:620033
HP:0000152	Abnormality of head or neck	440	ASNS	OMIM:615574
HP:0000152	Abnormality of head or neck	5538	PPT1	OMIM:256730
HP:0000152	Abnormality of head or neck	6709	SPTAN1	OMIM:613477
HP:0000152	Abnormality of head or neck	203190	LGI3	OMIM:620007
HP:0000152	Abnormality of head or neck	2806	GOT2	OMIM:618721
HP:0000152	Abnormality of head or neck	51294	PCDH12	OMIM:251280
HP:0000152	Abnormality of head or neck	55163	PNPO	OMIM:610090
HP:0000152	Abnormality of head or neck	91801	ALKBH8	OMIM:618504
HP:0000152	Abnormality of head or neck	3703	STT3A	OMIM:619714
HP:0000152	Abnormality of head or neck	84100	ARL6	OMIM:209900
HP:0000152	Abnormality of head or neck	79140	CCDC28B	OMIM:209900
HP:0000152	Abnormality of head or neck	582	BBS1	OMIM:209900
HP:0000152	Abnormality of head or neck	55109	AGGF1	ORPHA:90308
HP:0000152	Abnormality of head or neck	28514	DLL1	ORPHA:93926
HP:0000152	Abnormality of head or neck	28514	DLL1	ORPHA:93924
HP:0000152	Abnormality of head or neck	28514	DLL1	ORPHA:93925
HP:0000152	Abnormality of head or neck	28514	DLL1	OMIM:618709
HP:0000152	Abnormality of head or neck	28514	DLL1	ORPHA:220386
HP:0000152	Abnormality of head or neck	6496	SIX3	ORPHA:93926
HP:0000152	Abnormality of head or neck	6496	SIX3	ORPHA:93924
HP:0000152	Abnormality of head or neck	6496	SIX3	ORPHA:93925
HP:0000152	Abnormality of head or neck	6496	SIX3	ORPHA:220386
HP:0000152	Abnormality of head or neck	7050	TGIF1	ORPHA:93926
HP:0000152	Abnormality of head or neck	7050	TGIF1	ORPHA:93924
HP:0000152	Abnormality of head or neck	7050	TGIF1	ORPHA:93925
HP:0000152	Abnormality of head or neck	7050	TGIF1	ORPHA:220386
HP:0000152	Abnormality of head or neck	4838	NODAL	ORPHA:93926
HP:0000152	Abnormality of head or neck	4838	NODAL	ORPHA:93924
HP:0000152	Abnormality of head or neck	4838	NODAL	ORPHA:93925
HP:0000152	Abnormality of head or neck	4838	NODAL	ORPHA:220386
HP:0000152	Abnormality of head or neck	6491	STIL	ORPHA:93926
HP:0000152	Abnormality of head or neck	6491	STIL	ORPHA:93924
HP:0000152	Abnormality of head or neck	6491	STIL	ORPHA:93925
HP:0000152	Abnormality of head or neck	6491	STIL	ORPHA:220386
HP:0000152	Abnormality of head or neck	2619	GAS1	ORPHA:93926
HP:0000152	Abnormality of head or neck	2619	GAS1	ORPHA:93924
HP:0000152	Abnormality of head or neck	2619	GAS1	ORPHA:93925
HP:0000152	Abnormality of head or neck	2619	GAS1	ORPHA:220386
HP:0000152	Abnormality of head or neck	84976	DISP1	ORPHA:93926
HP:0000152	Abnormality of head or neck	84976	DISP1	ORPHA:93924
HP:0000152	Abnormality of head or neck	84976	DISP1	ORPHA:93925
HP:0000152	Abnormality of head or neck	84976	DISP1	ORPHA:220386
HP:0000152	Abnormality of head or neck	2736	GLI2	ORPHA:93926
HP:0000152	Abnormality of head or neck	2736	GLI2	ORPHA:93924
HP:0000152	Abnormality of head or neck	2736	GLI2	ORPHA:93925
HP:0000152	Abnormality of head or neck	2736	GLI2	ORPHA:220386
HP:0000152	Abnormality of head or neck	8928	FOXH1	ORPHA:93926
HP:0000152	Abnormality of head or neck	8928	FOXH1	ORPHA:93924
HP:0000152	Abnormality of head or neck	8928	FOXH1	ORPHA:93925
HP:0000152	Abnormality of head or neck	8928	FOXH1	ORPHA:220386
HP:0000152	Abnormality of head or neck	50937	CDON	ORPHA:93926
HP:0000152	Abnormality of head or neck	50937	CDON	ORPHA:93924
HP:0000152	Abnormality of head or neck	50937	CDON	ORPHA:93925
HP:0000152	Abnormality of head or neck	50937	CDON	ORPHA:220386
HP:0000152	Abnormality of head or neck	26057	ANKRD17	OMIM:619504
HP:0000152	Abnormality of head or neck	57680	CHD8	OMIM:615032
HP:0000152	Abnormality of head or neck	100128927	ZBTB42	OMIM:616248
HP:0000152	Abnormality of head or neck	51341	ZBTB7A	OMIM:619769
HP:0000152	Abnormality of head or neck	80173	IFT74	OMIM:617119
HP:0000152	Abnormality of head or neck	1967	EIF2B1	OMIM:603896
HP:0000152	Abnormality of head or neck	79944	L2HGDH	ORPHA:79314
HP:0000152	Abnormality of head or neck	3912	LAMB1	OMIM:615191
HP:0000152	Abnormality of head or neck	4723	NDUFV1	OMIM:618225
HP:0000152	Abnormality of head or neck	443	ASPA	ORPHA:314918
HP:0000152	Abnormality of head or neck	443	ASPA	ORPHA:314911
HP:0000152	Abnormality of head or neck	443	ASPA	OMIM:271900
HP:0000152	Abnormality of head or neck	23729	SHPK	ORPHA:440713
HP:0000152	Abnormality of head or neck	51114	ZDHHC9	ORPHA:776
HP:0000152	Abnormality of head or neck	65109	UPF3B	ORPHA:776
HP:0000152	Abnormality of head or neck	65109	UPF3B	OMIM:300676
HP:0000152	Abnormality of head or neck	84892	POMGNT2	ORPHA:899
HP:0000152	Abnormality of head or neck	148789	B3GALNT2	ORPHA:899
HP:0000152	Abnormality of head or neck	10329	RXYLT1	ORPHA:899
HP:0000152	Abnormality of head or neck	1605	DAG1	ORPHA:899
HP:0000152	Abnormality of head or neck	1605	DAG1	OMIM:616538
HP:0000152	Abnormality of head or neck	11041	B4GAT1	ORPHA:899
HP:0000152	Abnormality of head or neck	84197	POMK	ORPHA:899
HP:0000152	Abnormality of head or neck	55624	POMGNT1	ORPHA:899
HP:0000152	Abnormality of head or neck	347733	TUBB2B	ORPHA:467166
HP:0000152	Abnormality of head or neck	7846	TUBA1A	ORPHA:467166
HP:0000152	Abnormality of head or neck	3549	IHH	ORPHA:63446
HP:0000152	Abnormality of head or neck	10483	SEC23B	ORPHA:201
HP:0000152	Abnormality of head or neck	10483	SEC23B	OMIM:616858
HP:0000152	Abnormality of head or neck	6390	SDHB	ORPHA:201
HP:0000152	Abnormality of head or neck	6392	SDHD	ORPHA:201
HP:0000152	Abnormality of head or neck	6391	SDHC	ORPHA:201
HP:0000152	Abnormality of head or neck	205717	USF3	ORPHA:201
HP:0000152	Abnormality of head or neck	100144748	KLLN	ORPHA:201
HP:0000152	Abnormality of head or neck	100144748	KLLN	OMIM:615107
HP:0000152	Abnormality of head or neck	2009	EML1	OMIM:600348
HP:0000152	Abnormality of head or neck	220296	HEPACAM	OMIM:613925
HP:0000152	Abnormality of head or neck	220296	HEPACAM	OMIM:613926
HP:0000152	Abnormality of head or neck	220296	HEPACAM	OMIM:604004
HP:0000152	Abnormality of head or neck	8812	CCNK	OMIM:618147
HP:0000152	Abnormality of head or neck	10653	SPINT2	OMIM:270420
HP:0000152	Abnormality of head or neck	2571	GAD1	OMIM:619124
HP:0000152	Abnormality of head or neck	23112	TNRC6B	OMIM:619243
HP:0000152	Abnormality of head or neck	288	ANK3	ORPHA:356996
HP:0000152	Abnormality of head or neck	6853	SYN1	ORPHA:85294
HP:0000152	Abnormality of head or neck	6853	SYN1	OMIM:300491
HP:0000152	Abnormality of head or neck	23169	SLC35D1	OMIM:269250
HP:0000152	Abnormality of head or neck	23169	SLC35D1	ORPHA:3144
HP:0000152	Abnormality of head or neck	777	CACNA1E	OMIM:618285
HP:0000152	Abnormality of head or neck	4781	NFIB	OMIM:618286
HP:0000152	Abnormality of head or neck	23299	BICD2	OMIM:618291
HP:0000152	Abnormality of head or neck	1496	CTNNA2	OMIM:618174
HP:0000152	Abnormality of head or neck	25886	POC1A	OMIM:614813
HP:0000152	Abnormality of head or neck	55294	FBXW7	OMIM:620012
HP:0000152	Abnormality of head or neck	894	CCND2	ORPHA:83473
HP:0000152	Abnormality of head or neck	894	CCND2	OMIM:615938
HP:0000152	Abnormality of head or neck	10000	AKT3	ORPHA:83473
HP:0000152	Abnormality of head or neck	10000	AKT3	ORPHA:99802
HP:0000152	Abnormality of head or neck	10000	AKT3	OMIM:615937
HP:0000152	Abnormality of head or neck	84282	RNF135	ORPHA:137634
HP:0000152	Abnormality of head or neck	8854	ALDH1A2	OMIM:620025
HP:0000152	Abnormality of head or neck	80204	FBXO11	OMIM:618089
HP:0000152	Abnormality of head or neck	1802	DPH2	OMIM:620062
HP:0000152	Abnormality of head or neck	81031	SLC2A10	ORPHA:3342
HP:0000152	Abnormality of head or neck	22859	ADGRL1	OMIM:620065
HP:0000152	Abnormality of head or neck	6609	SMPD1	OMIM:257200
HP:0000152	Abnormality of head or neck	6558	SLC12A2	OMIM:619081
HP:0000152	Abnormality of head or neck	9568	GABBR2	OMIM:617903
HP:0000152	Abnormality of head or neck	9555	MACROH2A1	ORPHA:1275
HP:0000152	Abnormality of head or neck	34	ACADM	ORPHA:42
HP:0000152	Abnormality of head or neck	63901	FAM111A	OMIM:127000
HP:0000152	Abnormality of head or neck	2776	GNAQ	ORPHA:3205
HP:0000152	Abnormality of head or neck	2776	GNAQ	OMIM:185300
HP:0000152	Abnormality of head or neck	23590	PDSS1	OMIM:614651
HP:0000152	Abnormality of head or neck	10075	HUWE1	OMIM:309590
HP:0000152	Abnormality of head or neck	579	NKX3-2	OMIM:613330
HP:0000152	Abnormality of head or neck	84162	BLTP1	OMIM:617822
HP:0000152	Abnormality of head or neck	2782	GNB1	OMIM:616973
HP:0000152	Abnormality of head or neck	5339	PLEC	OMIM:612138
HP:0000152	Abnormality of head or neck	64221	ROBO3	OMIM:607313
HP:0000152	Abnormality of head or neck	134701	RIPPLY2	ORPHA:2311
HP:0000152	Abnormality of head or neck	10683	DLL3	ORPHA:2311
HP:0000152	Abnormality of head or neck	3955	LFNG	ORPHA:2311
HP:0000152	Abnormality of head or neck	84667	HES7	ORPHA:2311
HP:0000152	Abnormality of head or neck	145873	MESP2	ORPHA:2311
HP:0000152	Abnormality of head or neck	6907	TBL1X	OMIM:301033
HP:0000152	Abnormality of head or neck	3747	KCNC2	OMIM:619913
HP:0000152	Abnormality of head or neck	91461	PKDCC	OMIM:618821
HP:0000152	Abnormality of head or neck	23209	MLC1	OMIM:604004
HP:0000152	Abnormality of head or neck	6911	TBX6	ORPHA:1797
HP:0000152	Abnormality of head or neck	5879	RAC1	OMIM:617751
HP:0000152	Abnormality of head or neck	5879	RAC1	ORPHA:500159
HP:0000152	Abnormality of head or neck	8139	GAN	OMIM:256850
HP:0000152	Abnormality of head or neck	2639	GCDH	OMIM:231670
HP:0000152	Abnormality of head or neck	37	ACADVL	ORPHA:26793
HP:0000152	Abnormality of head or neck	9526	MPDU1	OMIM:609180
HP:0000152	Abnormality of head or neck	9526	MPDU1	ORPHA:79323
HP:0000152	Abnormality of head or neck	64175	P3H1	OMIM:610915
HP:0000152	Abnormality of head or neck	25915	NDUFAF3	OMIM:618240
HP:0000152	Abnormality of head or neck	1147	CHUK	OMIM:619339
HP:0000152	Abnormality of head or neck	4036	LRP2	ORPHA:2143
HP:0000152	Abnormality of head or neck	4036	LRP2	OMIM:222448
HP:0000152	Abnormality of head or neck	56006	SMG9	OMIM:616920
HP:0000152	Abnormality of head or neck	57020	VPS35L	OMIM:619135
HP:0000152	Abnormality of head or neck	10491	CRTAP	OMIM:610682
HP:0000152	Abnormality of head or neck	56160	NSMCE3	OMIM:617241
HP:0000152	Abnormality of head or neck	2108	ETFA	OMIM:231680
HP:0000152	Abnormality of head or neck	2109	ETFB	OMIM:231680
HP:0000152	Abnormality of head or neck	2110	ETFDH	OMIM:231680
HP:0000152	Abnormality of head or neck	865	CBFB	OMIM:620099
HP:0000152	Abnormality of head or neck	55612	FERMT1	ORPHA:2908
HP:0000152	Abnormality of head or neck	2879	GPX4	ORPHA:93317
HP:0000152	Abnormality of head or neck	2879	GPX4	OMIM:250220
HP:0000152	Abnormality of head or neck	4330	MN1	OMIM:618774
HP:0000152	Abnormality of head or neck	10892	MALT1	OMIM:615468
HP:0000152	Abnormality of head or neck	7174	TPP2	OMIM:619220
HP:0000152	Abnormality of head or neck	128	ADH5	OMIM:619151
HP:0000152	Abnormality of head or neck	28981	IFT81	OMIM:617895
HP:0000152	Abnormality of head or neck	4598	MVK	OMIM:610377
HP:0000152	Abnormality of head or neck	4598	MVK	ORPHA:29
HP:0000152	Abnormality of head or neck	7701	ZNF142	OMIM:618425
HP:0000152	Abnormality of head or neck	5700	PSMC1	OMIM:620071
HP:0000152	Abnormality of head or neck	10765	KDM5B	OMIM:618109
HP:0000152	Abnormality of head or neck	7681	MKRN3	OMIM:176270
HP:0000152	Abnormality of head or neck	3653	IPW	OMIM:176270
HP:0000152	Abnormality of head or neck	791114	PWRN1	OMIM:176270
HP:0000152	Abnormality of head or neck	100033413	SNORD116-1	OMIM:176270
HP:0000152	Abnormality of head or neck	8924	HERC2	OMIM:176270
HP:0000152	Abnormality of head or neck	145624	PWAR1	OMIM:176270
HP:0000152	Abnormality of head or neck	23742	NPAP1	OMIM:176270
HP:0000152	Abnormality of head or neck	338433	SNORD115-1	OMIM:176270
HP:0000152	Abnormality of head or neck	137814	NKX2-6	ORPHA:3303
HP:0000152	Abnormality of head or neck	23414	ZFPM2	ORPHA:3303
HP:0000152	Abnormality of head or neck	3791	KDR	ORPHA:3303
HP:0000152	Abnormality of head or neck	2627	GATA6	ORPHA:3303
HP:0000152	Abnormality of head or neck	2657	GDF1	ORPHA:3303
HP:0000152	Abnormality of head or neck	140628	GATA5	ORPHA:3303
HP:0000152	Abnormality of head or neck	10370	CITED2	ORPHA:3303
HP:0000152	Abnormality of head or neck	2254	FGF9	OMIM:612961
HP:0000152	Abnormality of head or neck	23233	EXOC6B	OMIM:618395
HP:0000152	Abnormality of head or neck	1861	TOR1A	OMIM:618947
HP:0000152	Abnormality of head or neck	7874	USP7	OMIM:616863
HP:0000152	Abnormality of head or neck	4487	MSX1	ORPHA:141291
HP:0000152	Abnormality of head or neck	3664	IRF6	ORPHA:141291
HP:0000152	Abnormality of head or neck	57647	DHX37	ORPHA:983
HP:0000152	Abnormality of head or neck	1644	DDC	OMIM:608643
HP:0000152	Abnormality of head or neck	1493	CTLA4	ORPHA:3162
HP:0000152	Abnormality of head or neck	940	CD28	ORPHA:3162
HP:0000152	Abnormality of head or neck	7133	TNFRSF1B	ORPHA:3162
HP:0000152	Abnormality of head or neck	4210	MEFV	ORPHA:3243
HP:0000152	Abnormality of head or neck	54507	ADAMTSL4	ORPHA:1885
HP:0000152	Abnormality of head or neck	118987	PDZD8	OMIM:620021
HP:0000152	Abnormality of head or neck	1723	DHODH	OMIM:263750
HP:0000152	Abnormality of head or neck	1723	DHODH	ORPHA:246
HP:0000152	Abnormality of head or neck	7021	TFAP2B	ORPHA:46627
HP:0000152	Abnormality of head or neck	51109	RDH11	OMIM:616108
HP:0000152	Abnormality of head or neck	51109	RDH11	ORPHA:436245
HP:0000152	Abnormality of head or neck	55858	TMEM165	OMIM:614727
HP:0000152	Abnormality of head or neck	2296	FOXC1	OMIM:602482
HP:0000152	Abnormality of head or neck	4803	NGF	ORPHA:64752
HP:0000152	Abnormality of head or neck	145258	GSC	OMIM:602471
HP:0000152	Abnormality of head or neck	4849	CNOT3	OMIM:618672
HP:0000152	Abnormality of head or neck	3835	KIF22	OMIM:603546
HP:0000152	Abnormality of head or neck	22930	RAB3GAP1	ORPHA:1387
HP:0000152	Abnormality of head or neck	51574	LARP7	ORPHA:319671
HP:0000152	Abnormality of head or neck	51574	LARP7	OMIM:615071
HP:0000152	Abnormality of head or neck	4883	NPR3	OMIM:619543
HP:0000152	Abnormality of head or neck	55212	BBS7	OMIM:615984
HP:0000152	Abnormality of head or neck	1297	COL9A1	ORPHA:250984
HP:0000152	Abnormality of head or neck	1299	COL9A3	ORPHA:250984
HP:0000152	Abnormality of head or neck	84695	LOXL3	ORPHA:250984
HP:0000152	Abnormality of head or neck	1741	DLG3	OMIM:300850
HP:0000152	Abnormality of head or neck	92344	GORAB	OMIM:231070
HP:0000152	Abnormality of head or neck	92344	GORAB	ORPHA:2078
HP:0000152	Abnormality of head or neck	6898	TAT	ORPHA:28378
HP:0000152	Abnormality of head or neck	5702	PSMC3	OMIM:619354
HP:0000152	Abnormality of head or neck	23630	KCNE5	ORPHA:86818
HP:0000152	Abnormality of head or neck	2182	ACSL4	ORPHA:86818
HP:0000152	Abnormality of head or neck	29920	PYCR2	OMIM:616420
HP:0000152	Abnormality of head or neck	9939	RBM8A	OMIM:274000
HP:0000152	Abnormality of head or neck	9130	FAM50A	OMIM:300261
HP:0000152	Abnormality of head or neck	871	SERPINH1	OMIM:613848
HP:0000152	Abnormality of head or neck	121340	SP7	OMIM:613849
HP:0000152	Abnormality of head or neck	724066	ATXN8	ORPHA:98760
HP:0000152	Abnormality of head or neck	5138	PDE2A	OMIM:619150
HP:0000152	Abnormality of head or neck	25953	PNKD	OMIM:118800
HP:0000152	Abnormality of head or neck	9860	LRIG2	OMIM:615112
HP:0000152	Abnormality of head or neck	1356	CP	ORPHA:48818
HP:0000152	Abnormality of head or neck	501	ALDH7A1	ORPHA:3006
HP:0000152	Abnormality of head or neck	11212	PLPBP	ORPHA:3006
HP:0000152	Abnormality of head or neck	2690	GHR	OMIM:262500
HP:0000152	Abnormality of head or neck	6328	SCN3A	OMIM:617935
HP:0000152	Abnormality of head or neck	10716	TBR1	ORPHA:1617
HP:0000152	Abnormality of head or neck	9382	COG1	OMIM:611209
HP:0000152	Abnormality of head or neck	10479	SLC9A6	OMIM:300243
HP:0000152	Abnormality of head or neck	10479	SLC9A6	ORPHA:85278
HP:0000152	Abnormality of head or neck	10525	HYOU1	OMIM:233600
HP:0000152	Abnormality of head or neck	4810	NHS	OMIM:302350
HP:0000152	Abnormality of head or neck	7102	TSPAN7	OMIM:300210
HP:0000152	Abnormality of head or neck	51132	RLIM	OMIM:300978
HP:0000152	Abnormality of head or neck	54880	BCOR	ORPHA:2712
HP:0000152	Abnormality of head or neck	54880	BCOR	OMIM:300166
HP:0000152	Abnormality of head or neck	9241	NOG	OMIM:186500
HP:0000152	Abnormality of head or neck	80152	CENPT	OMIM:618702
HP:0000152	Abnormality of head or neck	7486	WRN	ORPHA:902
HP:0000152	Abnormality of head or neck	63932	STEEP1	OMIM:301013
HP:0000152	Abnormality of head or neck	7140	TNNT3	ORPHA:1147
HP:0000152	Abnormality of head or neck	7136	TNNI2	ORPHA:1147
HP:0000152	Abnormality of head or neck	1062	CENPE	ORPHA:808
HP:0000152	Abnormality of head or neck	79902	NUP85	ORPHA:808
HP:0000152	Abnormality of head or neck	84126	ATRIP	ORPHA:808
HP:0000152	Abnormality of head or neck	6567	SLC16A2	ORPHA:59
HP:0000152	Abnormality of head or neck	1140	CHRNB1	OMIM:616313
HP:0000152	Abnormality of head or neck	10382	TUBB4A	OMIM:128101
HP:0000152	Abnormality of head or neck	2673	GFPT1	OMIM:608931
HP:0000152	Abnormality of head or neck	9853	RUSC2	OMIM:617773
HP:0000152	Abnormality of head or neck	5913	RAPSN	OMIM:616326
HP:0000152	Abnormality of head or neck	2067	ERCC1	ORPHA:90322
HP:0000152	Abnormality of head or neck	23118	TAB2	ORPHA:228410
HP:0000152	Abnormality of head or neck	613	BCR	ORPHA:261330
HP:0000152	Abnormality of head or neck	1399	CRKL	ORPHA:261330
HP:0000152	Abnormality of head or neck	10026	PIGK	OMIM:618879
HP:0000152	Abnormality of head or neck	2590	GALNT2	OMIM:618885
HP:0000152	Abnormality of head or neck	222663	SCUBE3	OMIM:619184
HP:0000152	Abnormality of head or neck	23327	NEDD4L	OMIM:617201
HP:0000152	Abnormality of head or neck	6445	SGCG	ORPHA:353
HP:0000152	Abnormality of head or neck	51692	CPSF3	OMIM:619876
HP:0000152	Abnormality of head or neck	55719	SLF2	OMIM:620184
HP:0000152	Abnormality of head or neck	51244	CCDC174	OMIM:616816
HP:0000152	Abnormality of head or neck	9342	SNAP29	OMIM:609528
HP:0000152	Abnormality of head or neck	9342	SNAP29	ORPHA:66631
HP:0000152	Abnormality of head or neck	84317	CCDC115	OMIM:616828
HP:0000152	Abnormality of head or neck	79912	PYROXD1	OMIM:617258
HP:0000152	Abnormality of head or neck	84679	SLC9A7	OMIM:301024
HP:0000152	Abnormality of head or neck	22808	MRAS	OMIM:618499
HP:0000152	Abnormality of head or neck	79576	NKAP	OMIM:301039
HP:0000152	Abnormality of head or neck	1654	DDX3X	OMIM:300958
HP:0000152	Abnormality of head or neck	23133	PHF8	ORPHA:85287
HP:0000152	Abnormality of head or neck	23133	PHF8	OMIM:300263
HP:0000152	Abnormality of head or neck	25974	MMACHC	ORPHA:79282
HP:0000152	Abnormality of head or neck	25974	MMACHC	OMIM:277400
HP:0000152	Abnormality of head or neck	11043	MID2	OMIM:300928
HP:0000152	Abnormality of head or neck	5566	PRKACA	OMIM:619142
HP:0000152	Abnormality of head or neck	5052	PRDX1	OMIM:277400
HP:0000152	Abnormality of head or neck	3476	IGBP1	OMIM:300472
HP:0000152	Abnormality of head or neck	3476	IGBP1	ORPHA:52055
HP:0000152	Abnormality of head or neck	2294	FOXF1	OMIM:265380
HP:0000152	Abnormality of head or neck	10262	SF3B4	OMIM:154400
HP:0000152	Abnormality of head or neck	10046	MAMLD1	ORPHA:456328
HP:0000152	Abnormality of head or neck	4534	MTM1	ORPHA:456328
HP:0000152	Abnormality of head or neck	8425	LTBP4	OMIM:613177
HP:0000152	Abnormality of head or neck	10054	UBA2	OMIM:619959
HP:0000152	Abnormality of head or neck	347734	SLC35B2	OMIM:620269
HP:0000152	Abnormality of head or neck	2629	GBA1	OMIM:608013
HP:0000152	Abnormality of head or neck	54968	TMEM70	ORPHA:1194
HP:0000152	Abnormality of head or neck	6536	SLC6A9	OMIM:617301
HP:0000152	Abnormality of head or neck	318	NUDT2	OMIM:619844
HP:0000152	Abnormality of head or neck	26153	KIF26A	OMIM:620156
HP:0000152	Abnormality of head or neck	25778	DSTYK	OMIM:270750
HP:0000152	Abnormality of head or neck	25885	POLR1A	OMIM:616462
HP:0000152	Abnormality of head or neck	23184	MESD	OMIM:618644
HP:0000152	Abnormality of head or neck	51319	RSRC1	OMIM:618402
HP:0000152	Abnormality of head or neck	79184	BRCC3	ORPHA:280679
HP:0000152	Abnormality of head or neck	7841	MOGS	OMIM:606056
HP:0000152	Abnormality of head or neck	7841	MOGS	ORPHA:79330
HP:0000152	Abnormality of head or neck	84314	TMEM107	OMIM:617563
HP:0000152	Abnormality of head or neck	8550	MAPKAPK5	OMIM:619869
HP:0000152	Abnormality of head or neck	1906	EDN1	OMIM:615706
HP:0000152	Abnormality of head or neck	4247	MGAT2	OMIM:212066
HP:0000152	Abnormality of head or neck	23265	EXOC7	OMIM:619072
HP:0000152	Abnormality of head or neck	51633	OTUD6B	OMIM:617452
HP:0000152	Abnormality of head or neck	51633	OTUD6B	ORPHA:505237
HP:0000152	Abnormality of head or neck	79770	TXNDC15	OMIM:619879
HP:0000152	Abnormality of head or neck	8364	H4C3	OMIM:619758
HP:0000152	Abnormality of head or neck	10290	SPEG	OMIM:615959
HP:0000152	Abnormality of head or neck	10290	SPEG	ORPHA:169186
HP:0000152	Abnormality of head or neck	58	ACTA1	OMIM:161800
HP:0000152	Abnormality of head or neck	147912	SIX5	ORPHA:107
HP:0000152	Abnormality of head or neck	27086	FOXP1	ORPHA:391372
HP:0000152	Abnormality of head or neck	27086	FOXP1	OMIM:613670
HP:0000152	Abnormality of head or neck	163175	LGI4	OMIM:617468
HP:0000152	Abnormality of head or neck	9993	DGCR2	OMIM:192430
HP:0000152	Abnormality of head or neck	8220	ESS2	OMIM:192430
HP:0000152	Abnormality of head or neck	8214	DGCR6	OMIM:192430
HP:0000152	Abnormality of head or neck	54487	DGCR8	OMIM:192430
HP:0000152	Abnormality of head or neck	10667	FARS2	ORPHA:466722
HP:0000152	Abnormality of head or neck	23065	EMC1	ORPHA:480898
HP:0000152	Abnormality of head or neck	23065	EMC1	OMIM:616875
HP:0000152	Abnormality of head or neck	56975	FAM20C	ORPHA:1832
HP:0000152	Abnormality of head or neck	2556	GABRA3	OMIM:301091
HP:0000152	Abnormality of head or neck	3187	HNRNPH1	OMIM:620083
HP:0000152	Abnormality of head or neck	4677	NARS1	OMIM:619092
HP:0000152	Abnormality of head or neck	57479	PRR12	OMIM:619539
HP:0000152	Abnormality of head or neck	4088	SMAD3	OMIM:613795
HP:0000152	Abnormality of head or neck	4088	SMAD3	ORPHA:284984
HP:0000152	Abnormality of head or neck	4088	SMAD3	ORPHA:91387
HP:0000152	Abnormality of head or neck	55835	CENPJ	OMIM:613676
HP:0000152	Abnormality of head or neck	7048	TGFBR2	OMIM:610168
HP:0000152	Abnormality of head or neck	7048	TGFBR2	ORPHA:91387
HP:0000152	Abnormality of head or neck	641	BLM	ORPHA:125
HP:0000152	Abnormality of head or neck	10533	ATG7	OMIM:619422
HP:0000152	Abnormality of head or neck	7046	TGFBR1	OMIM:609192
HP:0000152	Abnormality of head or neck	7046	TGFBR1	ORPHA:91387
HP:0000152	Abnormality of head or neck	51013	EXOSC1	OMIM:619304
HP:0000152	Abnormality of head or neck	274	BIN1	ORPHA:169186
HP:0000152	Abnormality of head or neck	8243	SMC1A	OMIM:301044
HP:0000152	Abnormality of head or neck	10466	COG5	ORPHA:263487
HP:0000152	Abnormality of head or neck	1859	DYRK1A	ORPHA:268261
HP:0000152	Abnormality of head or neck	55869	HDAC8	OMIM:300882
HP:0000152	Abnormality of head or neck	6492	SIM1	ORPHA:171829
HP:0000152	Abnormality of head or neck	23291	FBXW11	OMIM:618914
HP:0000152	Abnormality of head or neck	9662	CEP135	OMIM:614673
HP:0000152	Abnormality of head or neck	5915	RARB	OMIM:615524
HP:0000152	Abnormality of head or neck	5932	RBBP8	OMIM:251255
HP:0000152	Abnormality of head or neck	3417	IDH1	ORPHA:99646
HP:0000152	Abnormality of head or neck	16	AARS1	OMIM:619691
HP:0000152	Abnormality of head or neck	56915	EXOSC5	OMIM:619576
HP:0000152	Abnormality of head or neck	2530	FUT8	OMIM:618005
HP:0000152	Abnormality of head or neck	55906	ZC4H2	OMIM:314580
HP:0000152	Abnormality of head or neck	81620	CDT1	ORPHA:2554
HP:0000152	Abnormality of head or neck	5000	ORC4	ORPHA:2554
HP:0000152	Abnormality of head or neck	23594	ORC6	ORPHA:2554
HP:0000152	Abnormality of head or neck	990	CDC6	ORPHA:2554
HP:0000152	Abnormality of head or neck	91647	ATPAF2	OMIM:604273
HP:0000152	Abnormality of head or neck	54539	NDUFB11	ORPHA:2556
HP:0000152	Abnormality of head or neck	1349	COX7B	ORPHA:2556
HP:0000152	Abnormality of head or neck	3052	HCCS	ORPHA:2556
HP:0000152	Abnormality of head or neck	444	ASPH	OMIM:601552
HP:0000152	Abnormality of head or neck	372	ARCN1	OMIM:617164
HP:0000152	Abnormality of head or neck	9758	FRMPD4	OMIM:300983
HP:0000152	Abnormality of head or neck	51729	WBP11	OMIM:619227
HP:0000152	Abnormality of head or neck	5116	PCNT	OMIM:210720
HP:0000152	Abnormality of head or neck	5116	PCNT	ORPHA:2637
HP:0000152	Abnormality of head or neck	6638	SNRPN	ORPHA:177907
HP:0000152	Abnormality of head or neck	9244	CRLF1	OMIM:272430
HP:0000152	Abnormality of head or neck	8943	AP3D1	OMIM:617050
HP:0000152	Abnormality of head or neck	57061	HYMAI	ORPHA:96191
HP:0000152	Abnormality of head or neck	5325	PLAGL1	ORPHA:96191
HP:0000152	Abnormality of head or neck	29895	MYL11	OMIM:619110
HP:0000152	Abnormality of head or neck	348180	CTU2	OMIM:618142
HP:0000152	Abnormality of head or neck	340419	RSPO2	OMIM:618022
HP:0000152	Abnormality of head or neck	54796	BNC2	ORPHA:93110
HP:0000152	Abnormality of head or neck	4927	NUP88	OMIM:618393
HP:0000152	Abnormality of head or neck	440138	ALG11	ORPHA:280071
HP:0000152	Abnormality of head or neck	55717	WDR11	OMIM:620237
HP:0000152	Abnormality of head or neck	118924	FRA10AC1	OMIM:620113
HP:0000152	Abnormality of head or neck	22995	CEP152	OMIM:613823
HP:0000152	Abnormality of head or neck	7169	TPM2	OMIM:108120
HP:0000152	Abnormality of head or neck	342035	GLDN	OMIM:617194
HP:0000152	Abnormality of head or neck	200205	IBA57	OMIM:615330
HP:0000152	Abnormality of head or neck	2733	GLE1	OMIM:611890
HP:0000152	Abnormality of head or neck	100151683	RNU4ATAC	ORPHA:2636
HP:0000152	Abnormality of head or neck	5718	PSMD12	OMIM:617516
HP:0000152	Abnormality of head or neck	84842	HPDL	OMIM:619026
HP:0000152	Abnormality of head or neck	375056	MIA3	OMIM:619269
HP:0000152	Abnormality of head or neck	18	ABAT	OMIM:613163
HP:0000152	Abnormality of head or neck	25871	NEPRO	OMIM:618853
HP:0000152	Abnormality of head or neck	7042	TGFB2	OMIM:614816
HP:0000152	Abnormality of head or neck	7042	TGFB2	ORPHA:91387
HP:0000152	Abnormality of head or neck	3480	IGF1R	OMIM:270450
HP:0000152	Abnormality of head or neck	4629	MYH11	ORPHA:91387
HP:0000152	Abnormality of head or neck	4015	LOX	ORPHA:91387
HP:0000152	Abnormality of head or neck	4087	SMAD2	ORPHA:91387
HP:0000152	Abnormality of head or neck	4089	SMAD4	ORPHA:91387
HP:0000152	Abnormality of head or neck	59	ACTA2	ORPHA:91387
HP:0000152	Abnormality of head or neck	5592	PRKG1	ORPHA:91387
HP:0000152	Abnormality of head or neck	2301	FOXE3	ORPHA:91387
HP:0000152	Abnormality of head or neck	4144	MAT2A	ORPHA:91387
HP:0000152	Abnormality of head or neck	23493	HEY2	ORPHA:91387
HP:0000152	Abnormality of head or neck	8076	MFAP5	ORPHA:91387
HP:0000152	Abnormality of head or neck	4638	MYLK	ORPHA:91387
HP:0000152	Abnormality of head or neck	199857	ALG14	OMIM:619031
HP:0000152	Abnormality of head or neck	9131	AIFM1	OMIM:300232
HP:0000152	Abnormality of head or neck	27316	RBMX	OMIM:300238
HP:0000152	Abnormality of head or neck	51256	TBC1D7	OMIM:248000
HP:0000152	Abnormality of head or neck	1183	CLCN4	OMIM:300114
HP:0000152	Abnormality of head or neck	23241	PACS2	OMIM:618067
HP:0000152	Abnormality of head or neck	55823	VPS11	ORPHA:466934
HP:0000152	Abnormality of head or neck	118429	ANTXR2	ORPHA:2176
HP:0000152	Abnormality of head or neck	118429	ANTXR2	OMIM:228600
HP:0000152	Abnormality of head or neck	29072	SETD2	ORPHA:821
HP:0000152	Abnormality of head or neck	10297	APC2	ORPHA:821
HP:0000152	Abnormality of head or neck	114803	MYSM1	ORPHA:508542
HP:0000152	Abnormality of head or neck	80232	WDR26	ORPHA:513456
HP:0000152	Abnormality of head or neck	80232	WDR26	OMIM:617616
HP:0000152	Abnormality of head or neck	170302	ARX	OMIM:300004
HP:0000152	Abnormality of head or neck	170302	ARX	ORPHA:2508
HP:0000152	Abnormality of head or neck	65993	MRPS34	OMIM:617664
HP:0000152	Abnormality of head or neck	23431	AP4E1	OMIM:613744
HP:0000152	Abnormality of head or neck	23431	AP4E1	ORPHA:280763
HP:0000152	Abnormality of head or neck	5476	CTSA	OMIM:256540
HP:0000152	Abnormality of head or neck	5476	CTSA	ORPHA:351
HP:0000152	Abnormality of head or neck	84572	GNPTG	OMIM:252605
HP:0000152	Abnormality of head or neck	56992	KIF15	ORPHA:261323
HP:0000152	Abnormality of head or neck	3074	HEXB	ORPHA:309155
HP:0000152	Abnormality of head or neck	3074	HEXB	OMIM:268800
HP:0000152	Abnormality of head or neck	3423	IDS	ORPHA:217085
HP:0000152	Abnormality of head or neck	3423	IDS	OMIM:309900
HP:0000152	Abnormality of head or neck	3423	IDS	ORPHA:217093
HP:0000152	Abnormality of head or neck	8289	ARID1A	OMIM:614607
HP:0000152	Abnormality of head or neck	8289	ARID1A	ORPHA:1465
HP:0000152	Abnormality of head or neck	4323	MMP14	OMIM:277950
HP:0000152	Abnormality of head or neck	83480	PUS3	ORPHA:488627
HP:0000152	Abnormality of head or neck	83480	PUS3	OMIM:617051
HP:0000152	Abnormality of head or neck	6598	SMARCB1	OMIM:614608
HP:0000152	Abnormality of head or neck	6598	SMARCB1	ORPHA:1465
HP:0000152	Abnormality of head or neck	6597	SMARCA4	OMIM:614609
HP:0000152	Abnormality of head or neck	6597	SMARCA4	ORPHA:1465
HP:0000152	Abnormality of head or neck	1193	CLIC2	ORPHA:324410
HP:0000152	Abnormality of head or neck	79813	EHMT1	OMIM:610253
HP:0000152	Abnormality of head or neck	3782	KCNN3	OMIM:618658
HP:0000152	Abnormality of head or neck	1267	CNP	OMIM:619071
HP:0000152	Abnormality of head or neck	10717	AP4B1	OMIM:614066
HP:0000152	Abnormality of head or neck	10717	AP4B1	ORPHA:280763
HP:0000152	Abnormality of head or neck	11154	AP4S1	OMIM:614067
HP:0000152	Abnormality of head or neck	11154	AP4S1	ORPHA:280763
HP:0000152	Abnormality of head or neck	8905	AP1S2	ORPHA:85335
HP:0000152	Abnormality of head or neck	8905	AP1S2	OMIM:304340
HP:0000152	Abnormality of head or neck	27125	AFF4	OMIM:616368
HP:0000152	Abnormality of head or neck	9255	AIMP1	OMIM:260600
HP:0000152	Abnormality of head or neck	9091	PIGQ	OMIM:618548
HP:0000152	Abnormality of head or neck	2990	GUSB	ORPHA:584
HP:0000152	Abnormality of head or neck	2990	GUSB	OMIM:253220
HP:0000152	Abnormality of head or neck	6605	SMARCE1	OMIM:616938
HP:0000152	Abnormality of head or neck	6605	SMARCE1	ORPHA:1465
HP:0000152	Abnormality of head or neck	10984	KCNQ1OT1	OMIM:130650
HP:0000152	Abnormality of head or neck	3784	KCNQ1	OMIM:130650
HP:0000152	Abnormality of head or neck	26047	CNTNAP2	OMIM:610042
HP:0000152	Abnormality of head or neck	79791	FBXO31	OMIM:615979
HP:0000152	Abnormality of head or neck	84295	PHF6	ORPHA:127
HP:0000152	Abnormality of head or neck	84295	PHF6	OMIM:301900
HP:0000152	Abnormality of head or neck	84188	FAR1	OMIM:616154
HP:0000152	Abnormality of head or neck	4352	MPL	ORPHA:3319
HP:0000152	Abnormality of head or neck	7066	THPO	ORPHA:3319
HP:0000152	Abnormality of head or neck	5277	PIGA	OMIM:301072
HP:0000152	Abnormality of head or neck	5277	PIGA	OMIM:300868
HP:0000152	Abnormality of head or neck	54808	DYM	ORPHA:239
HP:0000152	Abnormality of head or neck	54808	DYM	OMIM:223800
HP:0000152	Abnormality of head or neck	9488	PIGB	OMIM:618580
HP:0000152	Abnormality of head or neck	6448	SGSH	OMIM:252900
HP:0000152	Abnormality of head or neck	30000	TNPO2	OMIM:619556
HP:0000152	Abnormality of head or neck	411	ARSB	OMIM:253200
HP:0000152	Abnormality of head or neck	26580	BSCL2	ORPHA:363400
HP:0000152	Abnormality of head or neck	23102	TBC1D2B	OMIM:619323
HP:0000152	Abnormality of head or neck	79868	ALG13	OMIM:300884
HP:0000152	Abnormality of head or neck	55784	MCTP2	ORPHA:1596
HP:0000152	Abnormality of head or neck	9179	AP4M1	OMIM:612936
HP:0000152	Abnormality of head or neck	9179	AP4M1	ORPHA:280763
HP:0000152	Abnormality of head or neck	7849	PAX8	ORPHA:95720
HP:0000152	Abnormality of head or neck	7849	PAX8	ORPHA:95713
HP:0000152	Abnormality of head or neck	7849	PAX8	ORPHA:95712
HP:0000152	Abnormality of head or neck	7253	TSHR	ORPHA:95720
HP:0000152	Abnormality of head or neck	7253	TSHR	ORPHA:95713
HP:0000152	Abnormality of head or neck	5172	SLC26A4	ORPHA:95720
HP:0000152	Abnormality of head or neck	5172	SLC26A4	ORPHA:95713
HP:0000152	Abnormality of head or neck	79068	FTO	OMIM:612938
HP:0000152	Abnormality of head or neck	153642	ARSK	OMIM:619698
HP:0000152	Abnormality of head or neck	63035	BCORL1	OMIM:301029
HP:0000152	Abnormality of head or neck	5530	PPP3CA	OMIM:617711
HP:0000152	Abnormality of head or neck	6601	SMARCC2	ORPHA:1465
HP:0000152	Abnormality of head or neck	6664	SOX11	ORPHA:1465
HP:0000152	Abnormality of head or neck	7080	NKX2-1	ORPHA:95713
HP:0000152	Abnormality of head or neck	1482	NKX2-5	ORPHA:95713
HP:0000152	Abnormality of head or neck	1482	NKX2-5	ORPHA:95712
HP:0000152	Abnormality of head or neck	2304	FOXE1	ORPHA:95713
HP:0000152	Abnormality of head or neck	28956	LAMTOR2	ORPHA:90023
HP:0000152	Abnormality of head or neck	28956	LAMTOR2	OMIM:610798
HP:0000152	Abnormality of head or neck	2717	GLA	ORPHA:324
HP:0000152	Abnormality of head or neck	3248	HPGD	ORPHA:2796
HP:0000152	Abnormality of head or neck	3248	HPGD	OMIM:259100
HP:0000152	Abnormality of head or neck	6578	SLCO2A1	ORPHA:2796
HP:0000152	Abnormality of head or neck	80311	KLHL15	OMIM:300982
HP:0000152	Abnormality of head or neck	26175	LYSET	OMIM:619345
HP:0000152	Abnormality of head or neck	54681	P4HTM	OMIM:618493
HP:0000152	Abnormality of head or neck	5281	PIGF	OMIM:619356
HP:0000152	Abnormality of head or neck	2588	GALNS	OMIM:253000
HP:0000152	Abnormality of head or neck	374879	ZNF699	OMIM:619488
HP:0000152	Abnormality of head or neck	57688	ZSWIM6	OMIM:617865
HP:0000152	Abnormality of head or neck	4668	NAGA	ORPHA:79280
HP:0000152	Abnormality of head or neck	4668	NAGA	OMIM:609242
HP:0000152	Abnormality of head or neck	138050	HGSNAT	OMIM:252930
HP:0000152	Abnormality of head or neck	55901	THSD1	OMIM:620244
HP:0000152	Abnormality of head or neck	64802	NMNAT1	OMIM:619260
HP:0000152	Abnormality of head or neck	3897	L1CAM	ORPHA:2182
HP:0000152	Abnormality of head or neck	83452	RAB33B	OMIM:615222
HP:0000152	Abnormality of head or neck	55331	ACER3	OMIM:617762
HP:0000152	Abnormality of head or neck	9373	PLAA	OMIM:617527
HP:0000152	Abnormality of head or neck	4669	NAGLU	OMIM:252920
HP:0000152	Abnormality of head or neck	5626	PROP1	ORPHA:226307
HP:0000152	Abnormality of head or neck	89884	LHX4	ORPHA:226307
HP:0000152	Abnormality of head or neck	8022	LHX3	ORPHA:226307
HP:0000152	Abnormality of head or neck	8820	HESX1	ORPHA:226307
HP:0000152	Abnormality of head or neck	405753	DUOXA2	ORPHA:95716
HP:0000152	Abnormality of head or neck	6528	SLC5A5	ORPHA:95716
HP:0000152	Abnormality of head or neck	7038	TG	ORPHA:95716
HP:0000152	Abnormality of head or neck	7173	TPO	ORPHA:95716
HP:0000152	Abnormality of head or neck	389434	IYD	ORPHA:95716
HP:0000152	Abnormality of head or neck	50506	DUOX2	ORPHA:95716
HP:0000152	Abnormality of head or neck	2050	EPHB4	ORPHA:90186
HP:0000152	Abnormality of head or neck	2050	EPHB4	OMIM:617300
HP:0000152	Abnormality of head or neck	5340	PLG	OMIM:619360
HP:0000152	Abnormality of head or neck	284	ANGPT1	OMIM:619361
HP:0000152	Abnormality of head or neck	213	ALB	ORPHA:86816
HP:0000152	Abnormality of head or neck	84868	HAVCR2	OMIM:618398
HP:0000152	Abnormality of head or neck	26509	MYOF	OMIM:619366
HP:0000152	Abnormality of head or neck	64711	HS3ST6	OMIM:619367
HP:0000152	Abnormality of head or neck	3827	KNG1	OMIM:619363
HP:0000152	Abnormality of head or neck	7252	TSHB	ORPHA:90674
HP:0000152	Abnormality of head or neck	2161	F12	OMIM:610618
HP:0000152	Abnormality of head or neck	7552	ZNF711	OMIM:300803
HP:0000152	Abnormality of head or neck	7043	TGFB3	OMIM:615582
HP:0000152	Abnormality of head or neck	175	AGA	OMIM:208400
HP:0000152	Abnormality of head or neck	1759	DNM1	OMIM:620352
HP:0000152	Abnormality of head or neck	26235	FBXL4	OMIM:615471
HP:0000152	Abnormality of head or neck	23019	CNOT1	OMIM:618500
HP:0000152	Abnormality of head or neck	8216	LZTR1	OMIM:616564
HP:0000152	Abnormality of head or neck	8216	LZTR1	OMIM:605275
HP:0000152	Abnormality of head or neck	23135	KDM6B	OMIM:618505
HP:0000152	Abnormality of head or neck	6016	RIT1	OMIM:615355
HP:0000152	Abnormality of head or neck	4204	MECP2	ORPHA:1762
HP:0000152	Abnormality of head or neck	4204	MECP2	OMIM:300260
HP:0000152	Abnormality of head or neck	6228	RPS23	OMIM:617412
HP:0000152	Abnormality of head or neck	84942	WDR73	OMIM:251300
HP:0000152	Abnormality of head or neck	51741	WWOX	OMIM:616211
HP:0000152	Abnormality of head or neck	283489	CHAMP1	OMIM:616579
HP:0000152	Abnormality of head or neck	51111	KMT5B	OMIM:617788
HP:0000152	Abnormality of head or neck	2624	GATA2	OMIM:614038
HP:0000152	Abnormality of head or neck	79639	TMEM53	OMIM:619727
HP:0000152	Abnormality of head or neck	129563	DIS3L2	ORPHA:2849
HP:0000152	Abnormality of head or neck	10084	PQBP1	ORPHA:93947
HP:0000152	Abnormality of head or neck	10084	PQBP1	OMIM:309500
HP:0000152	Abnormality of head or neck	3764	KCNJ8	ORPHA:1517
HP:0000152	Abnormality of head or neck	10060	ABCC9	ORPHA:1517
HP:0000152	Abnormality of head or neck	10060	ABCC9	OMIM:239850
HP:0000152	Abnormality of head or neck	79158	GNPTAB	OMIM:252500
HP:0000152	Abnormality of head or neck	79158	GNPTAB	ORPHA:576
HP:0000152	Abnormality of head or neck	55636	CHD7	ORPHA:138
HP:0000152	Abnormality of head or neck	9723	SEMA3E	ORPHA:138
HP:0000152	Abnormality of head or neck	6023	RMRP	ORPHA:175
HP:0000152	Abnormality of head or neck	57589	RIC1	OMIM:618761
HP:0000152	Abnormality of head or neck	284058	KANSL1	ORPHA:363958
HP:0000152	Abnormality of head or neck	284058	KANSL1	OMIM:610443
HP:0000152	Abnormality of head or neck	284058	KANSL1	ORPHA:363965
HP:0000152	Abnormality of head or neck	54453	RIN2	OMIM:613075
HP:0000152	Abnormality of head or neck	9692	PRORP	OMIM:619737
HP:0000152	Abnormality of head or neck	815	CAMK2A	OMIM:617798
HP:0000152	Abnormality of head or neck	10381	TUBB3	ORPHA:300570
HP:0000152	Abnormality of head or neck	1290	COL5A2	ORPHA:287
HP:0000152	Abnormality of head or neck	1290	COL5A2	OMIM:130010
HP:0000152	Abnormality of head or neck	6872	TAF1	ORPHA:480907
HP:0000152	Abnormality of head or neck	1281	COL3A1	ORPHA:286
HP:0000152	Abnormality of head or neck	10087	CERT1	OMIM:616351
HP:0000152	Abnormality of head or neck	4763	NF1	ORPHA:363700
HP:0000152	Abnormality of head or neck	4763	NF1	OMIM:193520
HP:0000152	Abnormality of head or neck	4763	NF1	OMIM:601321
HP:0000152	Abnormality of head or neck	1501	CTNND2	ORPHA:281
HP:0000152	Abnormality of head or neck	9037	SEMA5A	ORPHA:281
HP:0000152	Abnormality of head or neck	5442	POLRMT	OMIM:619743
HP:0000152	Abnormality of head or neck	3340	NDST1	OMIM:616116
HP:0000152	Abnormality of head or neck	55012	PPP2R3C	OMIM:618419
HP:0000152	Abnormality of head or neck	200734	SPRED2	OMIM:619745
HP:0000152	Abnormality of head or neck	89910	UBE3B	ORPHA:2707
HP:0000152	Abnormality of head or neck	89910	UBE3B	OMIM:244450
HP:0000152	Abnormality of head or neck	8642	DCHS1	OMIM:601390
HP:0000152	Abnormality of head or neck	8642	DCHS1	ORPHA:314679
HP:0000152	Abnormality of head or neck	54345	SOX18	OMIM:137940
HP:0000152	Abnormality of head or neck	1789	DNMT3B	OMIM:242860
HP:0000152	Abnormality of head or neck	1789	DNMT3B	ORPHA:2268
HP:0000152	Abnormality of head or neck	54888	NSUN2	ORPHA:235
HP:0000152	Abnormality of head or neck	23312	DMXL2	OMIM:618663
HP:0000152	Abnormality of head or neck	23461	ABCA5	OMIM:135400
HP:0000152	Abnormality of head or neck	54914	FOCAD	OMIM:619991
HP:0000152	Abnormality of head or neck	8558	CDK10	OMIM:617694
HP:0000152	Abnormality of head or neck	79633	FAT4	OMIM:616006
HP:0000152	Abnormality of head or neck	79633	FAT4	ORPHA:314679
HP:0000152	Abnormality of head or neck	79633	FAT4	ORPHA:2136
HP:0000152	Abnormality of head or neck	79633	FAT4	OMIM:615546
HP:0000152	Abnormality of head or neck	9841	ZBTB24	OMIM:614069
HP:0000152	Abnormality of head or neck	9841	ZBTB24	ORPHA:2268
HP:0000152	Abnormality of head or neck	5979	RET	ORPHA:1848
HP:0000152	Abnormality of head or neck	7484	WNT9B	ORPHA:1848
HP:0000152	Abnormality of head or neck	80000	GREB1L	ORPHA:1848
HP:0000152	Abnormality of head or neck	6899	TBX1	ORPHA:1727
HP:0000152	Abnormality of head or neck	6899	TBX1	ORPHA:567
HP:0000152	Abnormality of head or neck	6134	RPL10	ORPHA:459070
HP:0000152	Abnormality of head or neck	6134	RPL10	OMIM:300998
HP:0000152	Abnormality of head or neck	286	ANK1	ORPHA:251066
HP:0000152	Abnormality of head or neck	85365	ALG2	ORPHA:79326
HP:0000152	Abnormality of head or neck	85365	ALG2	OMIM:607906
HP:0000152	Abnormality of head or neck	54828	BCAS3	OMIM:619641
HP:0000152	Abnormality of head or neck	7750	ZMYM2	OMIM:619522
HP:0000152	Abnormality of head or neck	56098	PCDHGC4	OMIM:619880
HP:0000152	Abnormality of head or neck	7358	UGDH	OMIM:618792
HP:0000152	Abnormality of head or neck	53335	BCL11A	OMIM:617101
HP:0000152	Abnormality of head or neck	113179	ADAT3	OMIM:615286
HP:0000152	Abnormality of head or neck	113179	ADAT3	ORPHA:363528
HP:0000152	Abnormality of head or neck	59336	PRDM13	OMIM:619761
HP:0000152	Abnormality of head or neck	59336	PRDM13	OMIM:619909
HP:0000152	Abnormality of head or neck	9158	FIBP	OMIM:617107
HP:0000152	Abnormality of head or neck	9158	FIBP	ORPHA:500095
HP:0000152	Abnormality of head or neck	2324	FLT4	ORPHA:79452
HP:0000152	Abnormality of head or neck	57165	GJC2	ORPHA:79452
HP:0000152	Abnormality of head or neck	5373	PMM2	ORPHA:79318
HP:0000152	Abnormality of head or neck	57724	EPG5	OMIM:242840
HP:0000152	Abnormality of head or neck	7030	TFE3	OMIM:301066
HP:0000152	Abnormality of head or neck	2719	GPC3	ORPHA:373
HP:0000152	Abnormality of head or neck	2719	GPC3	OMIM:312870
HP:0000152	Abnormality of head or neck	5286	PIK3C2A	OMIM:618440
HP:0000152	Abnormality of head or neck	5286	PIK3C2A	ORPHA:557003
HP:0000152	Abnormality of head or neck	8565	YARS1	OMIM:619418
HP:0000152	Abnormality of head or neck	23499	MACF1	OMIM:618325
HP:0000152	Abnormality of head or neck	374969	SVBP	OMIM:618569
HP:0000152	Abnormality of head or neck	7476	WNT7A	OMIM:276820
HP:0000152	Abnormality of head or neck	51322	WAC	ORPHA:466950
HP:0000152	Abnormality of head or neck	404672	GTF2H5	ORPHA:33364
HP:0000152	Abnormality of head or neck	833	CARS1	ORPHA:33364
HP:0000152	Abnormality of head or neck	2068	ERCC2	ORPHA:33364
HP:0000152	Abnormality of head or neck	7737	RNF113A	ORPHA:33364
HP:0000152	Abnormality of head or neck	136647	MPLKIP	ORPHA:33364
HP:0000152	Abnormality of head or neck	136647	MPLKIP	OMIM:234050
HP:0000152	Abnormality of head or neck	6897	TARS1	ORPHA:33364
HP:0000152	Abnormality of head or neck	2071	ERCC3	ORPHA:33364
HP:0000152	Abnormality of head or neck	10195	ALG3	OMIM:601110
HP:0000152	Abnormality of head or neck	6135	RPL11	ORPHA:124
HP:0000152	Abnormality of head or neck	6138	RPL15	ORPHA:124
HP:0000152	Abnormality of head or neck	6229	RPS24	ORPHA:124
HP:0000152	Abnormality of head or neck	6125	RPL5	ORPHA:124
HP:0000152	Abnormality of head or neck	6204	RPS10	ORPHA:124
HP:0000152	Abnormality of head or neck	6224	RPS20	ORPHA:124
HP:0000152	Abnormality of head or neck	6165	RPL35A	ORPHA:124
HP:0000152	Abnormality of head or neck	6223	RPS19	ORPHA:124
HP:0000152	Abnormality of head or neck	6223	RPS19	OMIM:105650
HP:0000152	Abnormality of head or neck	6232	RPS27	ORPHA:124
HP:0000152	Abnormality of head or neck	6231	RPS26	ORPHA:124
HP:0000152	Abnormality of head or neck	11224	RPL35	ORPHA:124
HP:0000152	Abnormality of head or neck	6160	RPL31	ORPHA:124
HP:0000152	Abnormality of head or neck	6218	RPS17	ORPHA:124
HP:0000152	Abnormality of head or neck	6201	RPS7	ORPHA:124
HP:0000152	Abnormality of head or neck	6155	RPL27	ORPHA:124
HP:0000152	Abnormality of head or neck	6154	RPL26	ORPHA:124
HP:0000152	Abnormality of head or neck	6210	RPS15A	ORPHA:124
HP:0000152	Abnormality of head or neck	90121	TSR2	ORPHA:124
HP:0000152	Abnormality of head or neck	6141	RPL18	ORPHA:124
HP:0000152	Abnormality of head or neck	6235	RPS29	ORPHA:124
HP:0000152	Abnormality of head or neck	6234	RPS28	ORPHA:124
HP:0000152	Abnormality of head or neck	6234	RPS28	OMIM:606164
HP:0000152	Abnormality of head or neck	51816	ADA2	ORPHA:124
HP:0000152	Abnormality of head or neck	117581	TWIST2	ORPHA:1807
HP:0000152	Abnormality of head or neck	117581	TWIST2	OMIM:227260
HP:0000152	Abnormality of head or neck	1917	EEF1A2	OMIM:616393
HP:0000152	Abnormality of head or neck	51117	COQ4	OMIM:616276
HP:0000152	Abnormality of head or neck	1642	DDB1	OMIM:619426
HP:0000152	Abnormality of head or neck	6857	SYT1	OMIM:618218
HP:0000152	Abnormality of head or neck	6857	SYT1	ORPHA:522077
HP:0000152	Abnormality of head or neck	6654	SOS1	OMIM:610733
HP:0000152	Abnormality of head or neck	389827	MYMK	OMIM:254940
HP:0000152	Abnormality of head or neck	389827	MYMK	ORPHA:1358
HP:0000152	Abnormality of head or neck	6929	TCF3	ORPHA:33110
HP:0000152	Abnormality of head or neck	973	CD79A	ORPHA:33110
HP:0000152	Abnormality of head or neck	974	CD79B	ORPHA:33110
HP:0000152	Abnormality of head or neck	3543	IGLL1	ORPHA:33110
HP:0000152	Abnormality of head or neck	3507	IGHM	ORPHA:33110
HP:0000152	Abnormality of head or neck	29760	BLNK	ORPHA:33110
HP:0000152	Abnormality of head or neck	56262	LRRC8A	ORPHA:33110
HP:0000152	Abnormality of head or neck	56262	LRRC8A	OMIM:613506
HP:0000152	Abnormality of head or neck	84706	GPT2	OMIM:616281
HP:0000152	Abnormality of head or neck	6909	TBX2	OMIM:618223
HP:0000152	Abnormality of head or neck	5351	PLOD1	OMIM:225400
HP:0000152	Abnormality of head or neck	6477	SIAH1	OMIM:619314
HP:0000152	Abnormality of head or neck	54517	PUS7	OMIM:618342
HP:0000152	Abnormality of head or neck	57102	C12orf4	OMIM:618221
HP:0000152	Abnormality of head or neck	8573	CASK	OMIM:300749
HP:0000152	Abnormality of head or neck	10785	WDR4	OMIM:618347
HP:0000152	Abnormality of head or neck	55628	ZNF407	OMIM:619557
HP:0000152	Abnormality of head or neck	50814	NSDHL	ORPHA:251383
HP:0000152	Abnormality of head or neck	50814	NSDHL	OMIM:300831
HP:0000152	Abnormality of head or neck	128869	PIGU	OMIM:618590
HP:0000152	Abnormality of head or neck	5575	PRKAR1B	OMIM:619680
HP:0000152	Abnormality of head or neck	26275	HIBCH	ORPHA:88639
HP:0000152	Abnormality of head or neck	26275	HIBCH	OMIM:250620
HP:0000152	Abnormality of head or neck	650	BMP2	ORPHA:261295
HP:0000152	Abnormality of head or neck	1436	CSF1R	OMIM:618476
HP:0000152	Abnormality of head or neck	57520	HECW2	OMIM:617268
HP:0000152	Abnormality of head or neck	5980	REV3L	ORPHA:570
HP:0000152	Abnormality of head or neck	23129	PLXND1	ORPHA:570
HP:0000152	Abnormality of head or neck	23221	RHOBTB2	OMIM:618004
HP:0000152	Abnormality of head or neck	2334	AFF2	OMIM:309548
HP:0000152	Abnormality of head or neck	2334	AFF2	ORPHA:100973
HP:0000152	Abnormality of head or neck	4141	MARS1	OMIM:619692
HP:0000152	Abnormality of head or neck	1108	CHD4	OMIM:617159
HP:0000152	Abnormality of head or neck	9719	ADAMTSL2	ORPHA:1901
HP:0000152	Abnormality of head or neck	9509	ADAMTS2	ORPHA:1901
HP:0000152	Abnormality of head or neck	9509	ADAMTS2	OMIM:225410
HP:0000152	Abnormality of head or neck	1312	COMT	ORPHA:567
HP:0000152	Abnormality of head or neck	221037	JMJD1C	ORPHA:567
HP:0000152	Abnormality of head or neck	2812	GP1BB	ORPHA:567
HP:0000152	Abnormality of head or neck	6239	RREB1	ORPHA:567
HP:0000152	Abnormality of head or neck	7290	HIRA	ORPHA:567
HP:0000152	Abnormality of head or neck	9632	SEC24C	ORPHA:567
HP:0000152	Abnormality of head or neck	7353	UFD1	ORPHA:567
HP:0000152	Abnormality of head or neck	421	ARVCF	ORPHA:567
HP:0000152	Abnormality of head or neck	22827	PUF60	ORPHA:508488
HP:0000152	Abnormality of head or neck	23111	SPART	ORPHA:101000
HP:0000152	Abnormality of head or neck	1822	ATN1	OMIM:618494
HP:0000152	Abnormality of head or neck	3188	HNRNPH2	OMIM:300986
HP:0000152	Abnormality of head or neck	4613	MYCN	OMIM:164280
HP:0000152	Abnormality of head or neck	5573	PRKAR1A	OMIM:101800
HP:0000152	Abnormality of head or neck	5573	PRKAR1A	ORPHA:950
HP:0000152	Abnormality of head or neck	2290	FOXG1	ORPHA:261144
HP:0000152	Abnormality of head or neck	57003	CCDC47	OMIM:618268
HP:0000152	Abnormality of head or neck	134218	DNAJC21	OMIM:617052
HP:0000152	Abnormality of head or neck	10847	SRCAP	OMIM:619595
HP:0000152	Abnormality of head or neck	51317	PHF21A	ORPHA:52022
HP:0000152	Abnormality of head or neck	1457	CSNK2A1	OMIM:617062
HP:0000152	Abnormality of head or neck	2222	FDFT1	OMIM:618156
HP:0000152	Abnormality of head or neck	203068	TUBB	OMIM:156610
HP:0000152	Abnormality of head or neck	203068	TUBB	ORPHA:2505
HP:0000152	Abnormality of head or neck	57477	SHROOM4	ORPHA:85288
HP:0000152	Abnormality of head or neck	10220	GDF11	OMIM:619122
HP:0000152	Abnormality of head or neck	226	ALDOA	OMIM:611881
HP:0000152	Abnormality of head or neck	93587	TRMT10A	ORPHA:391408
HP:0000152	Abnormality of head or neck	84919	PPP1R15B	ORPHA:391408
HP:0000152	Abnormality of head or neck	84919	PPP1R15B	OMIM:616817
HP:0000152	Abnormality of head or neck	55252	ASXL2	OMIM:617190
HP:0000152	Abnormality of head or neck	3090	HIC1	ORPHA:531
HP:0000152	Abnormality of head or neck	80267	EDEM3	OMIM:619493
HP:0000152	Abnormality of head or neck	23154	NCDN	OMIM:619373
HP:0000152	Abnormality of head or neck	51594	NBAS	OMIM:614800
HP:0000152	Abnormality of head or neck	54187	NANS	OMIM:610442
HP:0000152	Abnormality of head or neck	10079	ATP9A	OMIM:620242
HP:0000152	Abnormality of head or neck	1795	DOCK3	OMIM:618292
HP:0000152	Abnormality of head or neck	11011	TLK2	OMIM:618050
HP:0000152	Abnormality of head or neck	129285	PPP1R21	OMIM:619383
HP:0000152	Abnormality of head or neck	9562	MINPP1	ORPHA:284339
HP:0000152	Abnormality of head or neck	51626	DYNC2LI1	OMIM:617088
HP:0000152	Abnormality of head or neck	221927	BRAT1	OMIM:618056
HP:0000152	Abnormality of head or neck	168667	BMPER	OMIM:608022
HP:0000152	Abnormality of head or neck	7337	UBE3A	ORPHA:238446
HP:0000152	Abnormality of head or neck	8506	CNTNAP1	OMIM:618186
HP:0000152	Abnormality of head or neck	5393	EXOSC9	OMIM:618065
HP:0000152	Abnormality of head or neck	161742	SPRED1	OMIM:611431
HP:0000152	Abnormality of head or neck	5894	RAF1	OMIM:611554
HP:0000152	Abnormality of head or neck	5894	RAF1	OMIM:611553
HP:0000152	Abnormality of head or neck	51506	UFC1	OMIM:618076
HP:0000152	Abnormality of head or neck	55788	LMBRD1	OMIM:277380
HP:0000152	Abnormality of head or neck	25782	RAB3GAP2	OMIM:212720
HP:0000152	Abnormality of head or neck	10472	ZBTB18	ORPHA:36367
HP:0000152	Abnormality of head or neck	10472	ZBTB18	OMIM:612337
HP:0000152	Abnormality of head or neck	1146	CHRNG	OMIM:265000
HP:0000152	Abnormality of head or neck	1146	CHRNG	OMIM:253290
HP:0000152	Abnormality of head or neck	1146	CHRNG	ORPHA:2990
HP:0000152	Abnormality of head or neck	84992	PIGY	ORPHA:247262
HP:0000152	Abnormality of head or neck	84720	PIGO	ORPHA:247262
HP:0000152	Abnormality of head or neck	93210	PGAP3	ORPHA:247262
HP:0000152	Abnormality of head or neck	284098	PIGW	ORPHA:247262
HP:0000152	Abnormality of head or neck	27315	PGAP2	ORPHA:247262
HP:0000152	Abnormality of head or neck	55650	PIGV	ORPHA:247262
HP:0000152	Abnormality of head or neck	28958	COA3	OMIM:619058
HP:0000152	Abnormality of head or neck	9739	SETD1A	OMIM:619056
HP:0000152	Abnormality of head or neck	7490	WT1	OMIM:194080
HP:0000152	Abnormality of head or neck	546	ATRX	ORPHA:847
HP:0000152	Abnormality of head or neck	546	ATRX	OMIM:309580
HP:0000152	Abnormality of head or neck	546	ATRX	OMIM:301040
HP:0000152	Abnormality of head or neck	8546	AP3B1	OMIM:608233
HP:0000152	Abnormality of head or neck	64919	BCL11B	OMIM:618092
HP:0000152	Abnormality of head or neck	23036	ZNF292	OMIM:619188
HP:0000152	Abnormality of head or neck	3070	HELLS	ORPHA:2268
HP:0000152	Abnormality of head or neck	3070	HELLS	OMIM:616911
HP:0000152	Abnormality of head or neck	83879	CDCA7	ORPHA:2268
HP:0000152	Abnormality of head or neck	83879	CDCA7	OMIM:616910
HP:0000152	Abnormality of head or neck	84300	UQCC2	OMIM:615824
HP:0000152	Abnormality of head or neck	53834	FGFRL1	OMIM:194190
HP:0000152	Abnormality of head or neck	10801	SEPTIN9	OMIM:162100
HP:0000152	Abnormality of head or neck	7025	NR2F1	ORPHA:401777
HP:0000152	Abnormality of head or neck	7025	NR2F1	OMIM:615722
HP:0000152	Abnormality of head or neck	51660	MPC1	OMIM:614741
HP:0000152	Abnormality of head or neck	9508	ADAMTS3	ORPHA:2136
HP:0000152	Abnormality of head or neck	10908	PNPLA6	ORPHA:2377
HP:0000152	Abnormality of head or neck	5828	PEX2	OMIM:614866
HP:0000152	Abnormality of head or neck	5828	PEX2	ORPHA:912
HP:0000152	Abnormality of head or neck	3211	HOXB1	OMIM:614744
HP:0000152	Abnormality of head or neck	54499	TMCO1	OMIM:213980
HP:0000152	Abnormality of head or neck	54499	TMCO1	ORPHA:1394
HP:0000152	Abnormality of head or neck	283209	PGM2L1	OMIM:620191
HP:0000152	Abnormality of head or neck	51611	DPH5	OMIM:620070
HP:0000152	Abnormality of head or neck	79228	THOC6	ORPHA:363444
HP:0000152	Abnormality of head or neck	8050	PDHX	OMIM:245349
HP:0000152	Abnormality of head or neck	5594	MAPK1	OMIM:619087
HP:0000152	Abnormality of head or neck	10430	TMEM147	OMIM:620075
HP:0000152	Abnormality of head or neck	8504	PEX3	OMIM:614882
HP:0000152	Abnormality of head or neck	8504	PEX3	ORPHA:912
HP:0000152	Abnormality of head or neck	55275	VPS53	OMIM:615851
HP:0000152	Abnormality of head or neck	5824	PEX19	OMIM:614886
HP:0000152	Abnormality of head or neck	5824	PEX19	ORPHA:912
HP:0000152	Abnormality of head or neck	50945	TBX22	ORPHA:921
HP:0000152	Abnormality of head or neck	92154	MTSS2	OMIM:620086
HP:0000152	Abnormality of head or neck	5631	PRPS1	OMIM:300661
HP:0000152	Abnormality of head or neck	171023	ASXL1	OMIM:605039
HP:0000152	Abnormality of head or neck	55023	PHIP	ORPHA:589905
HP:0000152	Abnormality of head or neck	55023	PHIP	OMIM:617991
HP:0000152	Abnormality of head or neck	5781	PTPN11	OMIM:151100
HP:0000152	Abnormality of head or neck	5781	PTPN11	OMIM:163950
HP:0000152	Abnormality of head or neck	22907	DHX30	OMIM:617804
HP:0000152	Abnormality of head or neck	2245	FGD1	ORPHA:915
HP:0000152	Abnormality of head or neck	1144	CHRND	OMIM:253290
HP:0000152	Abnormality of head or neck	1134	CHRNA1	OMIM:253290
HP:0000152	Abnormality of head or neck	55670	PEX26	ORPHA:912
HP:0000152	Abnormality of head or neck	8799	PEX11B	ORPHA:912
HP:0000152	Abnormality of head or neck	9409	PEX16	ORPHA:912
HP:0000152	Abnormality of head or neck	5190	PEX6	ORPHA:912
HP:0000152	Abnormality of head or neck	5193	PEX12	ORPHA:912
HP:0000152	Abnormality of head or neck	5194	PEX13	ORPHA:912
HP:0000152	Abnormality of head or neck	5195	PEX14	ORPHA:912
HP:0000152	Abnormality of head or neck	5192	PEX10	ORPHA:912
HP:0000152	Abnormality of head or neck	84627	ZNF469	OMIM:229200
HP:0000152	Abnormality of head or neck	9780	PIEZO1	OMIM:616843
HP:0000152	Abnormality of head or neck	23394	ADNP	OMIM:615873
HP:0000152	Abnormality of head or neck	10586	MAB21L2	OMIM:615877
HP:0000152	Abnormality of head or neck	85358	SHANK3	OMIM:606232
HP:0000152	Abnormality of head or neck	85358	SHANK3	ORPHA:48652
HP:0000152	Abnormality of head or neck	5859	QARS1	OMIM:615760
HP:0000152	Abnormality of head or neck	10982	MAPRE2	OMIM:616734
HP:0000152	Abnormality of head or neck	10982	MAPRE2	ORPHA:2505
HP:0000152	Abnormality of head or neck	55033	FKBP14	OMIM:614557
HP:0000152	Abnormality of head or neck	5053	PAH	ORPHA:2209
HP:0000152	Abnormality of head or neck	4131	MAP1B	OMIM:618918
HP:0000152	Abnormality of head or neck	101929726	MYMX	ORPHA:1358
HP:0000152	Abnormality of head or neck	5925	RB1	ORPHA:1587
HP:0000152	Abnormality of head or neck	23511	NUP188	OMIM:618804
HP:0000152	Abnormality of head or neck	64131	XYLT1	OMIM:615777
HP:0000152	Abnormality of head or neck	10943	MSL3	OMIM:301032
HP:0000152	Abnormality of head or neck	84342	COG8	OMIM:611182
HP:0000152	Abnormality of head or neck	57511	COG6	OMIM:614576
HP:0000152	Abnormality of head or neck	83696	TRAPPC9	ORPHA:352530
HP:0000152	Abnormality of head or neck	4854	NOTCH3	ORPHA:2789
HP:0000152	Abnormality of head or neck	80781	COL18A1	ORPHA:1571
HP:0000152	Abnormality of head or neck	80781	COL18A1	OMIM:267750
HP:0000152	Abnormality of head or neck	5062	PAK2	ORPHA:1571
HP:0000152	Abnormality of head or neck	9361	LONP1	ORPHA:1458
HP:0000152	Abnormality of head or neck	6628	SNRPB	OMIM:117650
HP:0000152	Abnormality of head or neck	10367	MICU1	OMIM:615673
HP:0000152	Abnormality of head or neck	51002	TPRKB	OMIM:617731
HP:0000152	Abnormality of head or neck	4659	PPP1R12A	OMIM:618820
HP:0000152	Abnormality of head or neck	55617	TASP1	OMIM:618950
HP:0000152	Abnormality of head or neck	6182	MRPL12	OMIM:618951
HP:0000152	Abnormality of head or neck	55704	CCDC88A	OMIM:617507
HP:0000152	Abnormality of head or neck	26503	SLC17A5	OMIM:269920
HP:0000152	Abnormality of head or neck	1748	DLX4	OMIM:616788
HP:0000152	Abnormality of head or neck	1663	DDX11	OMIM:613398
HP:0000152	Abnormality of head or neck	5455	POU3F3	OMIM:618604
HP:0000152	Abnormality of head or neck	2186	BPTF	OMIM:617755
HP:0000152	Abnormality of head or neck	738	VPS51	OMIM:618606
HP:0000152	Abnormality of head or neck	6736	SRY	ORPHA:1772
HP:0000152	Abnormality of head or neck	84148	KAT8	OMIM:618974
HP:0000152	Abnormality of head or neck	8449	DHX16	OMIM:618733
HP:0000152	Abnormality of head or neck	5818	NECTIN1	OMIM:225060
HP:0000152	Abnormality of head or neck	4094	MAF	OMIM:601088
HP:0000152	Abnormality of head or neck	55107	ANO1	OMIM:620045
HP:0000152	Abnormality of head or neck	1009	CDH11	OMIM:211380
HP:0000152	Abnormality of head or neck	6513	SLC2A1	ORPHA:1942
HP:0000152	Abnormality of head or neck	1173	AP2M1	ORPHA:1942
HP:0000152	Abnormality of head or neck	6323	SCN1A	ORPHA:1942
HP:0000152	Abnormality of head or neck	340533	NEXMIF	ORPHA:1942
HP:0000152	Abnormality of head or neck	1106	CHD2	ORPHA:1942
HP:0000152	Abnormality of head or neck	6529	SLC6A1	ORPHA:1942
HP:0000152	Abnormality of head or neck	78989	COLEC11	OMIM:265050
HP:0000152	Abnormality of head or neck	5881	RAC3	OMIM:618577
HP:0000152	Abnormality of head or neck	51305	KCNK9	ORPHA:166108
HP:0000152	Abnormality of head or neck	4665	NAB2	ORPHA:2126
HP:0000152	Abnormality of head or neck	6778	STAT6	ORPHA:2126
HP:0000152	Abnormality of head or neck	63924	CIDEC	ORPHA:435651
HP:0000152	Abnormality of head or neck	2074	ERCC6	OMIM:133540
HP:0000152	Abnormality of head or neck	5468	PPARG	ORPHA:79083
HP:0000152	Abnormality of head or neck	5696	PSMB8	OMIM:256040
HP:0000152	Abnormality of head or neck	1161	ERCC8	OMIM:216400
HP:0000152	Abnormality of head or neck	3376	IARS1	OMIM:617093
HP:0000152	Abnormality of head or neck	3376	IARS1	ORPHA:541423
HP:0000152	Abnormality of head or neck	91754	NEK9	OMIM:614262
HP:0000152	Abnormality of head or neck	3008	H1-4	OMIM:617537
HP:0000152	Abnormality of head or neck	8675	STX16	ORPHA:94089
HP:0000152	Abnormality of head or neck	8882	ZPR1	OMIM:619321
HP:0000152	Abnormality of head or neck	63916	ELMO2	ORPHA:3019
HP:0000152	Abnormality of head or neck	1841	DTYMK	OMIM:619847
HP:0000152	Abnormality of head or neck	1363	CPE	OMIM:619326
HP:0000152	Abnormality of head or neck	55904	KMT2E	OMIM:618512
HP:0000152	Abnormality of head or neck	2542	SLC37A4	ORPHA:79259
HP:0000152	Abnormality of head or neck	10588	MTHFS	OMIM:618367
HP:0000152	Abnormality of head or neck	1020	CDK5	OMIM:616342
HP:0000152	Abnormality of head or neck	2248	FGF3	ORPHA:2791
HP:0000152	Abnormality of head or neck	5075	PAX1	ORPHA:2792
HP:0000152	Abnormality of head or neck	57096	RPGRIP1	ORPHA:564
HP:0000152	Abnormality of head or neck	5723	PSPH	ORPHA:79350
HP:0000152	Abnormality of head or neck	5332	PLCB4	ORPHA:137888
HP:0000152	Abnormality of head or neck	55975	KLHL7	OMIM:617055
HP:0000152	Abnormality of head or neck	55027	HEATR3	OMIM:620072
HP:0000152	Abnormality of head or neck	6452	SH3BP2	ORPHA:184
HP:0000152	Abnormality of head or neck	51124	IER3IP1	OMIM:614231
HP:0000152	Abnormality of head or neck	23067	SETD1B	OMIM:619000
HP:0000152	Abnormality of head or neck	6901	TAFAZZIN	OMIM:302060
HP:0000152	Abnormality of head or neck	9895	TECPR2	ORPHA:320385
HP:0000152	Abnormality of head or neck	23162	MAPK8IP3	OMIM:618443
HP:0000152	Abnormality of head or neck	23483	TGDS	OMIM:616145
HP:0000152	Abnormality of head or neck	23483	TGDS	ORPHA:1388
HP:0000152	Abnormality of head or neck	1968	EIF2S3	ORPHA:85282
HP:0000152	Abnormality of head or neck	8813	DPM1	ORPHA:79322
HP:0000152	Abnormality of head or neck	23529	CLCF1	ORPHA:1545
HP:0000152	Abnormality of head or neck	178	AGL	ORPHA:366
HP:0000152	Abnormality of head or neck	27445	PCLO	OMIM:608027
HP:0000152	Abnormality of head or neck	4054	LTBP3	OMIM:617809
HP:0000152	Abnormality of head or neck	3479	IGF1	ORPHA:73272
HP:0000152	Abnormality of head or neck	11113	CIT	OMIM:617090
HP:0000152	Abnormality of head or neck	10128	LRPPRC	OMIM:220111
HP:0000152	Abnormality of head or neck	25970	SH2B1	ORPHA:261222
HP:0000152	Abnormality of head or neck	55690	PACS1	OMIM:615009
HP:0000152	Abnormality of head or neck	55690	PACS1	ORPHA:329224
HP:0000152	Abnormality of head or neck	4081	MAB21L1	OMIM:618479
HP:0000152	Abnormality of head or neck	80055	PGAP1	OMIM:615802
HP:0000152	Abnormality of head or neck	55780	ERMARD	ORPHA:75857
HP:0000152	Abnormality of head or neck	5934	RBL2	OMIM:619690
HP:0000152	Abnormality of head or neck	83999	KREMEN1	OMIM:617392
HP:0000152	Abnormality of head or neck	55870	ASH1L	OMIM:617796
HP:0000152	Abnormality of head or neck	79029	AFG2B	OMIM:619616
HP:0000152	Abnormality of head or neck	128637	TBC1D20	OMIM:615663
HP:0000152	Abnormality of head or neck	57572	DOCK6	OMIM:614219
HP:0000152	Abnormality of head or neck	23476	BRD4	ORPHA:199
HP:0000152	Abnormality of head or neck	25836	NIPBL	ORPHA:199
HP:0000152	Abnormality of head or neck	5885	RAD21	ORPHA:199
HP:0000152	Abnormality of head or neck	22931	RAB18	OMIM:614222
HP:0000152	Abnormality of head or neck	85440	DOCK7	ORPHA:411986
HP:0000152	Abnormality of head or neck	85440	DOCK7	OMIM:615859
HP:0000152	Abnormality of head or neck	80036	TRPM3	OMIM:620224
HP:0000152	Abnormality of head or neck	5184	PEPD	ORPHA:742
HP:0000152	Abnormality of head or neck	253959	RALGAPA1	OMIM:618797
HP:0000152	Abnormality of head or neck	91875	TTC5	OMIM:619244
HP:0000152	Abnormality of head or neck	55691	FRMD4A	OMIM:616819
HP:0000152	Abnormality of head or neck	55691	FRMD4A	ORPHA:466688
HP:0000152	Abnormality of head or neck	10555	AGPAT2	ORPHA:528
HP:0000152	Abnormality of head or neck	284119	CAVIN1	ORPHA:528
HP:0000152	Abnormality of head or neck	2353	FOS	ORPHA:528
HP:0000152	Abnormality of head or neck	857	CAV1	ORPHA:528
HP:0000152	Abnormality of head or neck	6878	TAF6	OMIM:617126
HP:0000152	Abnormality of head or neck	9990	SLC12A6	OMIM:218000
HP:0000152	Abnormality of head or neck	2538	G6PC1	OMIM:232200
HP:0000152	Abnormality of head or neck	8635	RNASET2	OMIM:612951
HP:0000152	Abnormality of head or neck	6514	SLC2A2	ORPHA:2088
HP:0000152	Abnormality of head or neck	7528	YY1	ORPHA:506358
HP:0000152	Abnormality of head or neck	7528	YY1	OMIM:617557
HP:0000152	Abnormality of head or neck	5518	PPP2R1A	OMIM:616362
HP:0000152	Abnormality of head or neck	5518	PPP2R1A	ORPHA:457284
HP:0000152	Abnormality of head or neck	55768	NGLY1	OMIM:615273
HP:0000152	Abnormality of head or neck	55768	NGLY1	ORPHA:404454
HP:0000152	Abnormality of head or neck	27107	ZBTB11	OMIM:618383
HP:0000152	Abnormality of head or neck	2892	GRIA3	ORPHA:364028
HP:0000152	Abnormality of head or neck	23126	POGZ	OMIM:616364
HP:0000152	Abnormality of head or neck	23126	POGZ	ORPHA:468678
HP:0000152	Abnormality of head or neck	6418	SET	OMIM:618106
HP:0000152	Abnormality of head or neck	9499	MYOT	ORPHA:266
HP:0000152	Abnormality of head or neck	2548	GAA	ORPHA:308552
HP:0000152	Abnormality of head or neck	23030	KDM4B	OMIM:619320
HP:0000152	Abnormality of head or neck	200424	TET3	OMIM:618798
HP:0000152	Abnormality of head or neck	271	AMPD2	OMIM:615809
HP:0000152	Abnormality of head or neck	8242	KDM5C	OMIM:300534
HP:0000152	Abnormality of head or neck	10463	SLC30A9	OMIM:617595
HP:0000152	Abnormality of head or neck	1778	DYNC1H1	OMIM:614563
HP:0000152	Abnormality of head or neck	157680	VPS13B	OMIM:216550
HP:0000152	Abnormality of head or neck	1760	DMPK	ORPHA:589821
HP:0000152	Abnormality of head or neck	5081	PAX7	OMIM:618578
HP:0000152	Abnormality of head or neck	64132	XYLT2	ORPHA:85194
HP:0000152	Abnormality of head or neck	9230	RAB11B	OMIM:617807
HP:0000152	Abnormality of head or neck	2218	FKTN	ORPHA:272
HP:0000152	Abnormality of head or neck	2218	FKTN	OMIM:236670
HP:0000152	Abnormality of head or neck	3763	KCNJ6	ORPHA:435628
HP:0000152	Abnormality of head or neck	79876	UBA5	OMIM:617132
HP:0000152	Abnormality of head or neck	10159	ATP6AP2	ORPHA:363654
HP:0000152	Abnormality of head or neck	8106	PABPN1	ORPHA:270
HP:0000152	Abnormality of head or neck	8106	PABPN1	OMIM:164300
HP:0000152	Abnormality of head or neck	4361	MRE11	ORPHA:251347
HP:0000152	Abnormality of head or neck	22947	DUX4L1	ORPHA:269
HP:0000152	Abnormality of head or neck	2483	FRG1	ORPHA:269
HP:0000152	Abnormality of head or neck	23347	SMCHD1	ORPHA:269
HP:0000152	Abnormality of head or neck	100288687	DUX4	ORPHA:269
HP:0000152	Abnormality of head or neck	6535	SLC6A8	ORPHA:52503
HP:0000152	Abnormality of head or neck	7084	TK2	ORPHA:254886
HP:0000152	Abnormality of head or neck	5428	POLG	ORPHA:254886
HP:0000152	Abnormality of head or neck	5621	PRNP	ORPHA:157941
HP:0000152	Abnormality of head or neck	79152	FA2H	ORPHA:171629
HP:0000152	Abnormality of head or neck	5610	EIF2AK2	OMIM:618877
HP:0000152	Abnormality of head or neck	22954	TRIM32	ORPHA:1878
HP:0000152	Abnormality of head or neck	29954	POMT2	OMIM:236670
HP:0000152	Abnormality of head or neck	9215	LARGE1	OMIM:236670
HP:0000152	Abnormality of head or neck	79147	FKRP	OMIM:236670
HP:0000152	Abnormality of head or neck	10585	POMT1	OMIM:236670
HP:0000152	Abnormality of head or neck	7054	TH	OMIM:605407
HP:0000152	Abnormality of head or neck	5080	PAX6	ORPHA:1065
HP:0000152	Abnormality of head or neck	3708	ITPR1	ORPHA:1065
HP:0000152	Abnormality of head or neck	6575	SLC20A2	OMIM:213600
HP:0000152	Abnormality of head or neck	5155	PDGFB	OMIM:213600
HP:0000152	Abnormality of head or neck	23400	ATP13A2	OMIM:606693
HP:0000152	Abnormality of head or neck	538	ATP7A	ORPHA:565
HP:0000152	Abnormality of head or neck	80025	PANK2	ORPHA:216866
HP:0000152	Abnormality of head or neck	2747	GLUD2	OMIM:168600
HP:0000152	Abnormality of head or neck	126	ADH1C	OMIM:168600
HP:0000152	Abnormality of head or neck	4137	MAPT	OMIM:168600
HP:0000152	Abnormality of head or neck	4929	NR4A2	OMIM:168600
HP:0000152	Abnormality of head or neck	6908	TBP	OMIM:168600
HP:0000152	Abnormality of head or neck	4576	MT-TT	OMIM:168600
HP:0000152	Abnormality of head or neck	9627	SNCAIP	OMIM:168600
HP:0000152	Abnormality of head or neck	6311	ATXN2	OMIM:168600
HP:0000152	Abnormality of head or neck	6315	ATXN8OS	OMIM:168600
HP:0000152	Abnormality of head or neck	1639	DCTN1	OMIM:168605
HP:0000152	Abnormality of head or neck	535	ATP6V0A1	OMIM:619971
HP:0000152	Abnormality of head or neck	5521	PPP2R2B	OMIM:604326
HP:0000152	Abnormality of head or neck	111	ADCY5	OMIM:606703
HP:0000152	Abnormality of head or neck	111	ADCY5	ORPHA:324588
HP:0000152	Abnormality of head or neck	6712	SPTBN2	OMIM:600224
HP:0000152	Abnormality of head or neck	5582	PRKCG	OMIM:605361
HP:0000152	Abnormality of head or neck	208	AKT2	OMIM:240900
HP:0000152	Abnormality of head or neck	7809	BSND	ORPHA:89938
HP:0000152	Abnormality of head or neck	1188	CLCNKB	ORPHA:89938
HP:0000152	Abnormality of head or neck	1187	CLCNKA	ORPHA:89938
HP:0000152	Abnormality of head or neck	9630	GNA14	ORPHA:1063
HP:0000152	Abnormality of head or neck	388753	COA6	OMIM:616501
HP:0000152	Abnormality of head or neck	9338	TCEAL1	OMIM:301094
HP:0000152	Abnormality of head or neck	6531	SLC6A3	OMIM:613135
HP:0000152	Abnormality of head or neck	6531	SLC6A3	ORPHA:238455
HP:0000152	Abnormality of head or neck	25793	FBXO7	ORPHA:171695
HP:0000152	Abnormality of head or neck	25793	FBXO7	OMIM:260300
HP:0000152	Abnormality of head or neck	80347	COASY	OMIM:618266
HP:0000152	Abnormality of head or neck	9918	NCAPD2	OMIM:617983
HP:0000152	Abnormality of head or neck	3483	IGFALS	ORPHA:140941
HP:0000152	Abnormality of head or neck	5826	ABCD4	OMIM:614857
HP:0000152	Abnormality of head or neck	2065	ERBB3	OMIM:607598
HP:0000152	Abnormality of head or neck	537	ATP6AP1	OMIM:300972
HP:0000152	Abnormality of head or neck	3081	HGD	ORPHA:56
HP:0000152	Abnormality of head or neck	87	ACTN1	OMIM:615193
HP:0000152	Abnormality of head or neck	2057	EPOR	ORPHA:90042
HP:0000152	Abnormality of head or neck	5568	PRKACG	OMIM:616176
HP:0000152	Abnormality of head or neck	2120	ETV6	OMIM:616216
HP:0000152	Abnormality of head or neck	10235	RASGRP2	OMIM:615888
HP:0000152	Abnormality of head or neck	23218	NBEAL2	OMIM:139090
HP:0000152	Abnormality of head or neck	23218	NBEAL2	ORPHA:721
HP:0000152	Abnormality of head or neck	2533	FYB1	OMIM:273900
HP:0000152	Abnormality of head or neck	51206	GP6	OMIM:614201
HP:0000152	Abnormality of head or neck	2160	F11	ORPHA:329
HP:0000152	Abnormality of head or neck	861	RUNX1	OMIM:601399
HP:0000152	Abnormality of head or neck	776	CACNA1D	ORPHA:369929
HP:0000152	Abnormality of head or neck	55340	GIMAP5	OMIM:619463
HP:0000152	Abnormality of head or neck	5328	PLAU	OMIM:601709
HP:0000152	Abnormality of head or neck	342618	SLFN14	OMIM:616913
HP:0000152	Abnormality of head or neck	7450	VWF	OMIM:193400
HP:0000152	Abnormality of head or neck	7450	VWF	OMIM:613554
HP:0000152	Abnormality of head or neck	7450	VWF	OMIM:277480
HP:0000152	Abnormality of head or neck	83706	FERMT3	OMIM:612840
HP:0000152	Abnormality of head or neck	5205	ATP8B1	OMIM:211600
HP:0000152	Abnormality of head or neck	64805	P2RY12	OMIM:609821
HP:0000152	Abnormality of head or neck	5054	SERPINE1	ORPHA:465
HP:0000152	Abnormality of head or neck	89781	HPS4	OMIM:614073
HP:0000152	Abnormality of head or neck	11234	HPS5	OMIM:614074
HP:0000152	Abnormality of head or neck	79803	HPS6	OMIM:614075
HP:0000152	Abnormality of head or neck	84062	DTNBP1	OMIM:614076
HP:0000152	Abnormality of head or neck	5921	RASA1	ORPHA:137667
HP:0000152	Abnormality of head or neck	6915	TBXA2R	OMIM:614009
HP:0000152	Abnormality of head or neck	1181	CLCN2	ORPHA:404
HP:0000152	Abnormality of head or neck	1584	CYP11B1	ORPHA:403
HP:0000152	Abnormality of head or neck	1585	CYP11B2	ORPHA:403
HP:0000152	Abnormality of head or neck	8328	GFI1B	OMIM:187900
HP:0000152	Abnormality of head or neck	64220	STRA6	OMIM:601186
HP:0000152	Abnormality of head or neck	745	MYRF	OMIM:618280
HP:0000152	Abnormality of head or neck	114928	GPRASP2	OMIM:301018
HP:0000152	Abnormality of head or neck	95	ACY1	ORPHA:137754
HP:0000152	Abnormality of head or neck	4193	MDM2	OMIM:618681
HP:0000152	Abnormality of head or neck	658	BMPR1B	ORPHA:2639
HP:0000152	Abnormality of head or neck	6786	STIM1	OMIM:185070
HP:0000152	Abnormality of head or neck	8218	CLTCL1	ORPHA:453510
HP:0000152	Abnormality of head or neck	4072	EPCAM	ORPHA:92050
HP:0000152	Abnormality of head or neck	105371045	PERCC1	ORPHA:92050
HP:0000152	Abnormality of head or neck	170692	ADAMTS18	OMIM:615458
HP:0000152	Abnormality of head or neck	3170	FOXA2	ORPHA:95494
HP:0000152	Abnormality of head or neck	199221	DZIP1L	ORPHA:731
HP:0000152	Abnormality of head or neck	4808	NHLH2	OMIM:619755
HP:0000152	Abnormality of head or neck	5264	PHYH	OMIM:266500
HP:0000152	Abnormality of head or neck	5264	PHYH	ORPHA:773
HP:0000152	Abnormality of head or neck	9927	MFN2	OMIM:601152
HP:0000152	Abnormality of head or neck	5792	PTPRF	OMIM:616001
HP:0000152	Abnormality of head or neck	8733	GPAA1	ORPHA:529665
HP:0000152	Abnormality of head or neck	8733	GPAA1	OMIM:617810
HP:0000152	Abnormality of head or neck	92840	REEP6	ORPHA:791
HP:0000152	Abnormality of head or neck	6094	ROM1	ORPHA:791
HP:0000152	Abnormality of head or neck	6017	RLBP1	ORPHA:791
HP:0000152	Abnormality of head or neck	7401	CLRN1	ORPHA:791
HP:0000152	Abnormality of head or neck	24	ABCA4	ORPHA:791
HP:0000152	Abnormality of head or neck	130557	ZNF513	ORPHA:791
HP:0000152	Abnormality of head or neck	92211	CDHR1	ORPHA:791
HP:0000152	Abnormality of head or neck	23568	ARL2BP	ORPHA:791
HP:0000152	Abnormality of head or neck	6101	RP1	ORPHA:791
HP:0000152	Abnormality of head or neck	3419	IDH3A	ORPHA:791
HP:0000152	Abnormality of head or neck	4751	NEK2	ORPHA:791
HP:0000152	Abnormality of head or neck	346007	EYS	ORPHA:791
HP:0000152	Abnormality of head or neck	8100	IFT88	ORPHA:791
HP:0000152	Abnormality of head or neck	23020	SNRNP200	ORPHA:791
HP:0000152	Abnormality of head or neck	762	CA4	ORPHA:791
HP:0000152	Abnormality of head or neck	196	AHR	ORPHA:791
HP:0000152	Abnormality of head or neck	5148	PDE6G	ORPHA:791
HP:0000152	Abnormality of head or neck	26121	PRPF31	ORPHA:791
HP:0000152	Abnormality of head or neck	4117	MAK	ORPHA:791
HP:0000152	Abnormality of head or neck	25794	FSCN2	ORPHA:791
HP:0000152	Abnormality of head or neck	375298	CERKL	ORPHA:791
HP:0000152	Abnormality of head or neck	3420	IDH3B	ORPHA:791
HP:0000152	Abnormality of head or neck	57670	KIAA1549	ORPHA:791
HP:0000152	Abnormality of head or neck	7275	TUB	ORPHA:791
HP:0000152	Abnormality of head or neck	24148	PRPF6	ORPHA:791
HP:0000152	Abnormality of head or neck	10461	MERTK	ORPHA:791
HP:0000152	Abnormality of head or neck	57709	SLC7A14	ORPHA:791
HP:0000152	Abnormality of head or neck	768206	PRCD	ORPHA:791
HP:0000152	Abnormality of head or neck	7399	USH2A	ORPHA:791
HP:0000152	Abnormality of head or neck	23370	ARHGEF18	ORPHA:791
HP:0000152	Abnormality of head or neck	5949	RBP3	ORPHA:791
HP:0000152	Abnormality of head or neck	6010	RHO	ORPHA:791
HP:0000152	Abnormality of head or neck	6100	RP9	ORPHA:791
HP:0000152	Abnormality of head or neck	10002	NR2E3	ORPHA:791
HP:0000152	Abnormality of head or neck	84140	FAM161A	ORPHA:791
HP:0000152	Abnormality of head or neck	5145	PDE6A	ORPHA:791
HP:0000152	Abnormality of head or neck	8842	PROM1	ORPHA:791
HP:0000152	Abnormality of head or neck	9128	PRPF4	ORPHA:791
HP:0000152	Abnormality of head or neck	50939	IMPG2	ORPHA:791
HP:0000152	Abnormality of head or neck	2979	GUCA1B	ORPHA:791
HP:0000152	Abnormality of head or neck	1259	CNGA1	ORPHA:791
HP:0000152	Abnormality of head or neck	1258	CNGB1	ORPHA:791
HP:0000152	Abnormality of head or neck	60509	AGBL5	ORPHA:791
HP:0000152	Abnormality of head or neck	5961	PRPH2	ORPHA:791
HP:0000152	Abnormality of head or neck	388939	PCARE	ORPHA:791
HP:0000152	Abnormality of head or neck	9785	DHX38	ORPHA:791
HP:0000152	Abnormality of head or neck	5995	RGR	ORPHA:791
HP:0000152	Abnormality of head or neck	9129	PRPF3	ORPHA:791
HP:0000152	Abnormality of head or neck	3617	IMPG1	ORPHA:791
HP:0000152	Abnormality of head or neck	94137	RP1L1	ORPHA:791
HP:0000152	Abnormality of head or neck	5158	PDE6B	ORPHA:791
HP:0000152	Abnormality of head or neck	6102	RP2	ORPHA:791
HP:0000152	Abnormality of head or neck	55857	KIZ	ORPHA:791
HP:0000152	Abnormality of head or neck	64218	SEMA4A	ORPHA:791
HP:0000152	Abnormality of head or neck	4901	NRL	ORPHA:791
HP:0000152	Abnormality of head or neck	10594	PRPF8	ORPHA:791
HP:0000152	Abnormality of head or neck	6295	SAG	ORPHA:791
HP:0000152	Abnormality of head or neck	5119	CHMP1A	OMIM:614961
HP:0000152	Abnormality of head or neck	4848	CNOT2	OMIM:618608
HP:0000152	Abnormality of head or neck	2010	EMD	OMIM:310300
HP:0000152	Abnormality of head or neck	56983	POGLUT1	ORPHA:79145
HP:0000152	Abnormality of head or neck	23509	POFUT1	ORPHA:79145
HP:0000152	Abnormality of head or neck	55851	PSENEN	ORPHA:79145
HP:0000152	Abnormality of head or neck	8838	CCN6	ORPHA:1159
HP:0000152	Abnormality of head or neck	2554	GABRA1	ORPHA:33069
HP:0000152	Abnormality of head or neck	57526	PCDH19	ORPHA:33069
HP:0000152	Abnormality of head or neck	3991	LIPE	ORPHA:435660
HP:0000152	Abnormality of head or neck	5010	CLDN11	OMIM:619328
HP:0000152	Abnormality of head or neck	6399	TRAPPC2	ORPHA:93284
HP:0000152	Abnormality of head or neck	6399	TRAPPC2	OMIM:313400
HP:0000152	Abnormality of head or neck	25792	CIZ1	ORPHA:420492
HP:0000152	Abnormality of head or neck	2774	GNAL	OMIM:615073
HP:0000152	Abnormality of head or neck	2774	GNAL	ORPHA:329466
HP:0000152	Abnormality of head or neck	81790	RNF170	OMIM:619686
HP:0000152	Abnormality of head or neck	387119	CEP85L	OMIM:618873
HP:0000152	Abnormality of head or neck	343641	TGM6	OMIM:613908
HP:0000152	Abnormality of head or neck	343641	TGM6	ORPHA:276193
HP:0000152	Abnormality of head or neck	8575	PRKRA	ORPHA:210571
HP:0000152	Abnormality of head or neck	64601	VPS16	OMIM:619291
HP:0000152	Abnormality of head or neck	116228	COX20	OMIM:619054
HP:0000152	Abnormality of head or neck	54834	GDAP2	OMIM:618369
HP:0000152	Abnormality of head or neck	1813	DRD2	ORPHA:36899
HP:0000152	Abnormality of head or neck	8910	SGCE	ORPHA:36899
HP:0000152	Abnormality of head or neck	8910	SGCE	OMIM:159900
HP:0000152	Abnormality of head or neck	84504	NKX6-2	OMIM:617560
HP:0000152	Abnormality of head or neck	10935	PRDX3	OMIM:619862
HP:0000152	Abnormality of head or neck	3615	IMPDH2	ORPHA:98808
HP:0000152	Abnormality of head or neck	3748	KCNC3	ORPHA:98768
HP:0000152	Abnormality of head or neck	128240	NAXE	OMIM:617186
HP:0000152	Abnormality of head or neck	4617	MYF5	OMIM:618155
HP:0000152	Abnormality of head or neck	256472	TMEM151A	OMIM:620245
HP:0000152	Abnormality of head or neck	5663	PSEN1	ORPHA:275864
HP:0000152	Abnormality of head or neck	5663	PSEN1	ORPHA:100070
HP:0000152	Abnormality of head or neck	2896	GRN	ORPHA:275864
HP:0000152	Abnormality of head or neck	2896	GRN	ORPHA:100070
HP:0000152	Abnormality of head or neck	54664	TMEM106B	ORPHA:275864
HP:0000152	Abnormality of head or neck	54664	TMEM106B	ORPHA:100070
HP:0000152	Abnormality of head or neck	6840	SVIL	OMIM:619040
HP:0000152	Abnormality of head or neck	55640	FLVCR2	OMIM:225790
HP:0000152	Abnormality of head or neck	92482	BBIP1	ORPHA:110
HP:0000152	Abnormality of head or neck	49855	SCAPER	ORPHA:110
HP:0000152	Abnormality of head or neck	27241	BBS9	ORPHA:110
HP:0000152	Abnormality of head or neck	84984	CEP19	ORPHA:110
HP:0000152	Abnormality of head or neck	79738	BBS10	ORPHA:110
HP:0000152	Abnormality of head or neck	123016	TTC8	ORPHA:110
HP:0000152	Abnormality of head or neck	26160	IFT172	ORPHA:110
HP:0000152	Abnormality of head or neck	583	BBS2	ORPHA:110
HP:0000152	Abnormality of head or neck	585	BBS4	ORPHA:110
HP:0000152	Abnormality of head or neck	8195	MKKS	ORPHA:110
HP:0000152	Abnormality of head or neck	166379	BBS12	ORPHA:110
HP:0000152	Abnormality of head or neck	10806	SDCCAG8	ORPHA:110
HP:0000152	Abnormality of head or neck	157657	CFAP418	ORPHA:110
HP:0000152	Abnormality of head or neck	129880	BBS5	ORPHA:110
HP:0000152	Abnormality of head or neck	7372	UMPS	ORPHA:30
HP:0000152	Abnormality of head or neck	55148	UBR7	OMIM:619189
HP:0000152	Abnormality of head or neck	8929	PHOX2B	OMIM:209880
HP:0000152	Abnormality of head or neck	9181	ARHGEF2	OMIM:617523
HP:0000152	Abnormality of head or neck	348	APOE	ORPHA:158029
HP:0000152	Abnormality of head or neck	6868	ADAM17	OMIM:614328
HP:0000152	Abnormality of head or neck	6868	ADAM17	ORPHA:294023
HP:0000152	Abnormality of head or neck	7454	WAS	ORPHA:906
HP:0000152	Abnormality of head or neck	7456	WIPF1	ORPHA:906
HP:0000152	Abnormality of head or neck	10095	ARPC1B	OMIM:617718
HP:0000152	Abnormality of head or neck	6768	ST14	OMIM:602400
HP:0000152	Abnormality of head or neck	55630	SLC39A4	ORPHA:37
HP:0000152	Abnormality of head or neck	10758	TRAF3IP2	OMIM:615527
HP:0000152	Abnormality of head or neck	1474	CST6	OMIM:618535
HP:0000152	Abnormality of head or neck	6307	MSMO1	OMIM:616834
HP:0000152	Abnormality of head or neck	1956	EGFR	ORPHA:294023
HP:0000152	Abnormality of head or neck	7507	XPA	ORPHA:910
HP:0000152	Abnormality of head or neck	7508	XPC	ORPHA:910
HP:0000152	Abnormality of head or neck	1643	DDB2	ORPHA:910
HP:0000152	Abnormality of head or neck	2073	ERCC5	ORPHA:910
HP:0000152	Abnormality of head or neck	147409	DSG4	ORPHA:573
HP:0000152	Abnormality of head or neck	3892	KRT86	ORPHA:573
HP:0000152	Abnormality of head or neck	3889	KRT83	ORPHA:573
HP:0000152	Abnormality of head or neck	3887	KRT81	ORPHA:573
HP:0000152	Abnormality of head or neck	1041	CDSN	ORPHA:90368
HP:0000152	Abnormality of head or neck	121391	KRT74	ORPHA:90368
HP:0000152	Abnormality of head or neck	121391	KRT74	OMIM:194300
HP:0000152	Abnormality of head or neck	121391	KRT74	OMIM:613981
HP:0000152	Abnormality of head or neck	124583	CANT1	ORPHA:1425
HP:0000152	Abnormality of head or neck	80169	CTC1	ORPHA:1775
HP:0000152	Abnormality of head or neck	26277	TINF2	ORPHA:1775
HP:0000152	Abnormality of head or neck	55651	NHP2	ORPHA:1775
HP:0000152	Abnormality of head or neck	55135	WRAP53	ORPHA:1775
HP:0000152	Abnormality of head or neck	51750	RTEL1	ORPHA:1775
HP:0000152	Abnormality of head or neck	4869	NPM1	ORPHA:1775
HP:0000152	Abnormality of head or neck	7012	TERC	ORPHA:1775
HP:0000152	Abnormality of head or neck	55505	NOP10	ORPHA:1775
HP:0000152	Abnormality of head or neck	5073	PARN	ORPHA:1775
HP:0000152	Abnormality of head or neck	1736	DKC1	ORPHA:1775
HP:0000152	Abnormality of head or neck	7298	TYMS	ORPHA:1775
HP:0000152	Abnormality of head or neck	355	FAS	ORPHA:3437
HP:0000152	Abnormality of head or neck	26191	PTPN22	ORPHA:3437
HP:0000152	Abnormality of head or neck	5333	PLCD1	ORPHA:2387
HP:0000152	Abnormality of head or neck	3851	KRT4	OMIM:193900
HP:0000152	Abnormality of head or neck	55129	ANO10	ORPHA:284289
HP:0000152	Abnormality of head or neck	55129	ANO10	OMIM:613728
HP:0000152	Abnormality of head or neck	7299	TYR	ORPHA:895
HP:0000152	Abnormality of head or neck	4254	KITLG	ORPHA:895
HP:0000152	Abnormality of head or neck	4254	KITLG	OMIM:619947
HP:0000152	Abnormality of head or neck	1776	DNASE1L3	ORPHA:36412
HP:0000152	Abnormality of head or neck	8676	STX11	OMIM:603552
HP:0000152	Abnormality of head or neck	162	AP1B1	OMIM:242150
HP:0000152	Abnormality of head or neck	7086	TKT	ORPHA:488618
HP:0000152	Abnormality of head or neck	7037	TFRC	OMIM:616740
HP:0000152	Abnormality of head or neck	686	BTD	OMIM:253260
HP:0000152	Abnormality of head or neck	686	BTD	ORPHA:79241
HP:0000152	Abnormality of head or neck	3978	LIG1	OMIM:619774
HP:0000152	Abnormality of head or neck	23064	SETX	OMIM:606002
HP:0000152	Abnormality of head or neck	2250	FGF5	OMIM:190330
HP:0000152	Abnormality of head or neck	1174	AP1S1	OMIM:609313
HP:0000152	Abnormality of head or neck	51116	MRPS2	OMIM:617950
HP:0000152	Abnormality of head or neck	330	BIRC3	ORPHA:52417
HP:0000152	Abnormality of head or neck	3492	IGH	ORPHA:52417
HP:0000152	Abnormality of head or neck	8915	BCL10	ORPHA:52417
HP:0000152	Abnormality of head or neck	220	ALDH1A3	OMIM:615113
HP:0000152	Abnormality of head or neck	5429	POLH	OMIM:278750
HP:0000152	Abnormality of head or neck	8363	H4C11	OMIM:619759
HP:0000152	Abnormality of head or neck	9969	MED13	OMIM:618009
HP:0000152	Abnormality of head or neck	81570	CLPB	OMIM:616271
HP:0000152	Abnormality of head or neck	368	ABCC6	ORPHA:51608
HP:0000152	Abnormality of head or neck	24140	FTSJ1	OMIM:309549
HP:0000152	Abnormality of head or neck	8120	AP3B2	OMIM:617276
HP:0000152	Abnormality of head or neck	649	BMP1	OMIM:614856
HP:0000152	Abnormality of head or neck	1816	DRD5	OMIM:606798
HP:0000152	Abnormality of head or neck	2512	FTL	OMIM:606159
HP:0000152	Abnormality of head or neck	2512	FTL	ORPHA:157846
HP:0000152	Abnormality of head or neck	63982	ANO3	OMIM:615034
HP:0000152	Abnormality of head or neck	63982	ANO3	ORPHA:420485
HP:0000152	Abnormality of head or neck	55145	THAP1	ORPHA:98806
HP:0000152	Abnormality of head or neck	3208	HPCA	ORPHA:99657
HP:0000152	Abnormality of head or neck	3208	HPCA	OMIM:224500
HP:0000152	Abnormality of head or neck	51102	MECR	OMIM:617282
HP:0000152	Abnormality of head or neck	56910	STARD7	OMIM:607876
HP:0000152	Abnormality of head or neck	79734	KCTD17	OMIM:616398
HP:0000152	Abnormality of head or neck	7286	TUFT1	OMIM:607655
HP:0000152	Abnormality of head or neck	374393	FAM111B	OMIM:615704
HP:0000152	Abnormality of head or neck	79092	CARD14	OMIM:173200
HP:0000152	Abnormality of head or neck	285848	PNPLA1	ORPHA:79394
HP:0000152	Abnormality of head or neck	283987	HID1	OMIM:619983
HP:0000152	Abnormality of head or neck	55280	CWF19L1	OMIM:616127
HP:0000152	Abnormality of head or neck	55280	CWF19L1	ORPHA:453521
HP:0000152	Abnormality of head or neck	229	ALDOB	OMIM:229600
HP:0000152	Abnormality of head or neck	123041	SLC24A4	OMIM:615887
HP:0000152	Abnormality of head or neck	162514	TRPV3	ORPHA:659
HP:0000152	Abnormality of head or neck	64065	PERP	ORPHA:659
HP:0000152	Abnormality of head or neck	9622	KLK4	OMIM:204700
HP:0000152	Abnormality of head or neck	4322	MMP13	ORPHA:2501
HP:0000152	Abnormality of head or neck	80067	DCAF17	OMIM:241080
HP:0000152	Abnormality of head or neck	80067	DCAF17	ORPHA:3464
HP:0000152	Abnormality of head or neck	5424	POLD1	OMIM:615381
HP:0000152	Abnormality of head or neck	10117	ENAM	OMIM:204650
HP:0000152	Abnormality of head or neck	64094	SMOC2	OMIM:125400
HP:0000152	Abnormality of head or neck	79955	PDZD7	ORPHA:231178
HP:0000152	Abnormality of head or neck	4647	MYO7A	ORPHA:231178
HP:0000152	Abnormality of head or neck	4647	MYO7A	ORPHA:231169
HP:0000152	Abnormality of head or neck	25861	WHRN	ORPHA:231178
HP:0000152	Abnormality of head or neck	84059	ADGRV1	ORPHA:231178
HP:0000152	Abnormality of head or neck	26504	CNNM4	ORPHA:1873
HP:0000152	Abnormality of head or neck	10083	USH1C	ORPHA:231169
HP:0000152	Abnormality of head or neck	83715	ESPN	ORPHA:231169
HP:0000152	Abnormality of head or neck	10518	CIB2	ORPHA:231169
HP:0000152	Abnormality of head or neck	65217	PCDH15	ORPHA:231169
HP:0000152	Abnormality of head or neck	64581	CLEC7A	ORPHA:1334
HP:0000152	Abnormality of head or neck	112744	IL17F	ORPHA:1334
HP:0000152	Abnormality of head or neck	8200	GDF5	ORPHA:63442
HP:0000152	Abnormality of head or neck	79977	GRHL2	OMIM:616029
HP:0000152	Abnormality of head or neck	1476	CSTB	ORPHA:248
HP:0000152	Abnormality of head or neck	286077	FAM83H	OMIM:130900
HP:0000152	Abnormality of head or neck	6603	SMARCD2	OMIM:617475
HP:0000152	Abnormality of head or neck	55081	IFT57	OMIM:617927
HP:0000152	Abnormality of head or neck	6678	SPARC	OMIM:616507
HP:0000152	Abnormality of head or neck	5176	SERPINF1	OMIM:613982
HP:0000152	Abnormality of head or neck	149461	CLDN19	OMIM:248190
HP:0000152	Abnormality of head or neck	3141	HLCS	ORPHA:79242
HP:0000152	Abnormality of head or neck	326	AIRE	OMIM:240300
HP:0000152	Abnormality of head or neck	4547	MTTP	ORPHA:14
HP:0000152	Abnormality of head or neck	255738	PCSK9	OMIM:603776
HP:0000152	Abnormality of head or neck	338	APOB	OMIM:144010
HP:0000152	Abnormality of head or neck	336	APOA2	OMIM:143890
HP:0000152	Abnormality of head or neck	2053	EPHX2	OMIM:143890
HP:0000152	Abnormality of head or neck	10842	PPP1R17	OMIM:143890
HP:0000152	Abnormality of head or neck	3949	LDLR	OMIM:143890
HP:0000152	Abnormality of head or neck	1593	CYP27A1	OMIM:213700
HP:0000152	Abnormality of head or neck	4023	LPL	OMIM:144250
HP:0000152	Abnormality of head or neck	7274	TTPA	OMIM:277460
HP:0000152	Abnormality of head or neck	64241	ABCG8	OMIM:210250
HP:0000152	Abnormality of head or neck	335	APOA1	ORPHA:425
HP:0000152	Abnormality of head or neck	158326	FREM1	ORPHA:2717
HP:0000152	Abnormality of head or neck	158326	FREM1	OMIM:248450
HP:0000152	Abnormality of head or neck	2706	GJB2	OMIM:148210
HP:0000152	Abnormality of head or neck	1282	COL4A1	OMIM:180000
HP:0000152	Abnormality of head or neck	1282	COL4A1	OMIM:611773
HP:0000152	Abnormality of head or neck	1282	COL4A1	OMIM:175780
HP:0000152	Abnormality of head or neck	4693	NDP	ORPHA:90050
HP:0000152	Abnormality of head or neck	8322	FZD4	ORPHA:90050
HP:0000152	Abnormality of head or neck	4508	MT-ATP6	ORPHA:644
HP:0000152	Abnormality of head or neck	207	AKT1	OMIM:176920
HP:0000152	Abnormality of head or neck	6299	SALL1	ORPHA:857
HP:0000152	Abnormality of head or neck	51339	DACT1	ORPHA:857
HP:0000152	Abnormality of head or neck	64856	VWA1	OMIM:619216
HP:0000152	Abnormality of head or neck	55005	RMND1	OMIM:614922
HP:0000152	Abnormality of head or neck	6606	SMN1	OMIM:271150
HP:0000152	Abnormality of head or neck	6606	SMN1	OMIM:253300
HP:0000152	Abnormality of head or neck	6606	SMN1	OMIM:253400
HP:0000152	Abnormality of head or neck	6606	SMN1	OMIM:253550
HP:0000152	Abnormality of head or neck	8087	FXR1	OMIM:618822
HP:0000152	Abnormality of head or neck	8087	FXR1	OMIM:618823
HP:0000152	Abnormality of head or neck	6607	SMN2	OMIM:253400
HP:0000152	Abnormality of head or neck	7259	TSPYL1	OMIM:608800
HP:0000152	Abnormality of head or neck	1959	EGR2	OMIM:145900
HP:0000152	Abnormality of head or neck	291	SLC25A4	ORPHA:254892
HP:0000152	Abnormality of head or neck	11232	POLG2	ORPHA:254892
HP:0000152	Abnormality of head or neck	4359	MPZ	OMIM:618184
HP:0000152	Abnormality of head or neck	91574	MTRFR	ORPHA:254930
HP:0000152	Abnormality of head or neck	91574	MTRFR	OMIM:613559
HP:0000152	Abnormality of head or neck	112	ADCY6	OMIM:616287
HP:0000152	Abnormality of head or neck	1410	CRYAB	ORPHA:399058
HP:0000152	Abnormality of head or neck	84665	MYPN	ORPHA:171439
HP:0000152	Abnormality of head or neck	390594	KBTBD13	ORPHA:171439
HP:0000152	Abnormality of head or neck	10324	KLHL41	ORPHA:171439
HP:0000152	Abnormality of head or neck	10324	KLHL41	ORPHA:171436
HP:0000152	Abnormality of head or neck	10324	KLHL41	ORPHA:171433
HP:0000152	Abnormality of head or neck	10324	KLHL41	ORPHA:171430
HP:0000152	Abnormality of head or neck	19	ABCA1	OMIM:205400
HP:0000152	Abnormality of head or neck	19	ABCA1	ORPHA:31150
HP:0000152	Abnormality of head or neck	113278	SLC52A3	OMIM:211500
HP:0000152	Abnormality of head or neck	9997	SCO2	ORPHA:521411
HP:0000152	Abnormality of head or neck	56203	LMOD3	ORPHA:171436
HP:0000152	Abnormality of head or neck	56203	LMOD3	ORPHA:171430
HP:0000152	Abnormality of head or neck	8803	SUCLA2	OMIM:612073
HP:0000152	Abnormality of head or neck	6472	SHMT2	OMIM:619121
HP:0000152	Abnormality of head or neck	131377	KLHL40	ORPHA:171430
HP:0000152	Abnormality of head or neck	10730	YME1L1	OMIM:617302
HP:0000152	Abnormality of head or neck	104	ADARB1	OMIM:618862
HP:0000152	Abnormality of head or neck	56896	DPYSL5	OMIM:619435
HP:0000152	Abnormality of head or neck	26999	CYFIP2	OMIM:618008
HP:0000152	Abnormality of head or neck	9935	MAFB	ORPHA:233
HP:0000152	Abnormality of head or neck	1123	CHN1	ORPHA:233
HP:0000152	Abnormality of head or neck	112858	TP53RK	OMIM:617730
HP:0000152	Abnormality of head or neck	490	ATP2B1	OMIM:619910
HP:0000152	Abnormality of head or neck	58508	KMT2C	ORPHA:261652
HP:0000152	Abnormality of head or neck	58508	KMT2C	OMIM:617768
HP:0000152	Abnormality of head or neck	57502	NLGN4X	OMIM:300495
HP:0000152	Abnormality of head or neck	5430	POLR2A	OMIM:618603
HP:0000152	Abnormality of head or neck	1807	DPYS	OMIM:222748
HP:0000152	Abnormality of head or neck	58497	PRUNE1	OMIM:617481
HP:0000152	Abnormality of head or neck	58497	PRUNE1	ORPHA:544469
HP:0000152	Abnormality of head or neck	10535	RNASEH2A	ORPHA:51
HP:0000152	Abnormality of head or neck	84153	RNASEH2C	ORPHA:51
HP:0000152	Abnormality of head or neck	25939	SAMHD1	ORPHA:51
HP:0000152	Abnormality of head or neck	79621	RNASEH2B	ORPHA:51
HP:0000152	Abnormality of head or neck	103	ADAR	ORPHA:51
HP:0000152	Abnormality of head or neck	100147744	RNU7-1	ORPHA:51
HP:0000152	Abnormality of head or neck	134353	LSM11	ORPHA:51
HP:0000152	Abnormality of head or neck	54567	DLL4	OMIM:616589
HP:0000152	Abnormality of head or neck	54567	DLL4	ORPHA:1114
HP:0000152	Abnormality of head or neck	54567	DLL4	ORPHA:974
HP:0000152	Abnormality of head or neck	57514	ARHGAP31	OMIM:100300
HP:0000152	Abnormality of head or neck	57514	ARHGAP31	ORPHA:974
HP:0000152	Abnormality of head or neck	197131	UBR1	OMIM:243800
HP:0000152	Abnormality of head or neck	9790	BMS1	ORPHA:1114
HP:0000152	Abnormality of head or neck	3691	ITGB4	ORPHA:1114
HP:0000152	Abnormality of head or neck	3516	RBPJ	ORPHA:974
HP:0000152	Abnormality of head or neck	4851	NOTCH1	ORPHA:974
HP:0000152	Abnormality of head or neck	285203	EOGT	ORPHA:974
HP:0000152	Abnormality of head or neck	64116	SLC39A8	OMIM:616721
HP:0000152	Abnormality of head or neck	64116	SLC39A8	ORPHA:468699
HP:0000152	Abnormality of head or neck	26115	TANC2	OMIM:618906
HP:0000152	Abnormality of head or neck	27245	AHDC1	ORPHA:412069
HP:0000152	Abnormality of head or neck	10157	AASS	ORPHA:2203
HP:0000152	Abnormality of head or neck	10265	IRX5	OMIM:611174
HP:0000152	Abnormality of head or neck	4091	SMAD6	OMIM:617439
HP:0000152	Abnormality of head or neck	29968	PSAT1	ORPHA:284417
HP:0000152	Abnormality of head or neck	29980	DONSON	OMIM:251230
HP:0000152	Abnormality of head or neck	149371	EXOC8	OMIM:619076
HP:0000152	Abnormality of head or neck	92002	CCNQ	OMIM:300707
HP:0000152	Abnormality of head or neck	157570	ESCO2	ORPHA:3103
HP:0000152	Abnormality of head or neck	157570	ESCO2	OMIM:268300
HP:0000152	Abnormality of head or neck	56603	CYP26B1	OMIM:614416
HP:0000152	Abnormality of head or neck	3852	KRT5	ORPHA:79396
HP:0000152	Abnormality of head or neck	3861	KRT14	ORPHA:79396
HP:0000152	Abnormality of head or neck	401	PHOX2A	OMIM:602078
HP:0000152	Abnormality of head or neck	7480	WNT10B	OMIM:617073
HP:0000152	Abnormality of head or neck	64388	GREM2	OMIM:617275
HP:0000152	Abnormality of head or neck	545	ATR	OMIM:210600
HP:0000152	Abnormality of head or neck	5294	PIK3CG	OMIM:619802
HP:0000152	Abnormality of head or neck	4312	MMP1	ORPHA:79408
HP:0000152	Abnormality of head or neck	1294	COL7A1	ORPHA:79408
HP:0000152	Abnormality of head or neck	1294	COL7A1	ORPHA:79409
HP:0000152	Abnormality of head or neck	1294	COL7A1	ORPHA:79410
HP:0000152	Abnormality of head or neck	1294	COL7A1	ORPHA:79411
HP:0000152	Abnormality of head or neck	126326	GIPC3	OMIM:601869
HP:0000152	Abnormality of head or neck	9254	CACNA2D2	OMIM:618501
HP:0000152	Abnormality of head or neck	24137	KIF4A	OMIM:300923
HP:0000152	Abnormality of head or neck	3718	JAK3	ORPHA:35078
HP:0000152	Abnormality of head or neck	29929	ALG6	ORPHA:79320
HP:0000152	Abnormality of head or neck	4126	MANBA	ORPHA:118
HP:0000152	Abnormality of head or neck	4126	MANBA	OMIM:248510
HP:0000152	Abnormality of head or neck	51621	KLF13	OMIM:612001
HP:0000152	Abnormality of head or neck	2464	FRA16E	OMIM:136570
HP:0000152	Abnormality of head or neck	22796	COG2	ORPHA:435934
HP:0000152	Abnormality of head or neck	131118	DNAJC19	ORPHA:66634
HP:0000152	Abnormality of head or neck	23309	SIN3B	ORPHA:500166
HP:0000152	Abnormality of head or neck	55777	MBD5	OMIM:156200
HP:0000152	Abnormality of head or neck	10664	CTCF	ORPHA:363611
HP:0000152	Abnormality of head or neck	4123	MAN2C1	OMIM:619775
HP:0000152	Abnormality of head or neck	259232	NALCN	OMIM:616266
HP:0000152	Abnormality of head or neck	64327	LMBR1	ORPHA:2378
HP:0000152	Abnormality of head or neck	79005	SCNM1	OMIM:620107
HP:0000152	Abnormality of head or neck	1063	CENPF	OMIM:243605
HP:0000152	Abnormality of head or neck	415	ARSL	ORPHA:79345
HP:0000152	Abnormality of head or neck	71	ACTG1	ORPHA:2995
HP:0000152	Abnormality of head or neck	60	ACTB	ORPHA:2995
HP:0000152	Abnormality of head or neck	3756	KCNH1	OMIM:611816
HP:0000152	Abnormality of head or neck	6469	SHH	OMIM:142945
HP:0000152	Abnormality of head or neck	284252	KCTD1	OMIM:181270
HP:0000152	Abnormality of head or neck	113189	CHST14	OMIM:601776
HP:0000152	Abnormality of head or neck	80816	ASXL3	OMIM:615485
HP:0000152	Abnormality of head or neck	7403	KDM6A	OMIM:300867
HP:0000152	Abnormality of head or neck	7403	KDM6A	ORPHA:2322
HP:0000152	Abnormality of head or neck	8085	KMT2D	ORPHA:2322
HP:0000152	Abnormality of head or neck	55623	THUMPD1	OMIM:619989
HP:0000152	Abnormality of head or neck	9653	HS2ST1	OMIM:619194
HP:0000152	Abnormality of head or neck	50801	KCNK4	OMIM:618381
HP:0000152	Abnormality of head or neck	253738	EBF3	OMIM:617330
HP:0000152	Abnormality of head or neck	8367	H4C5	OMIM:619950
HP:0000152	Abnormality of head or neck	8294	H4C9	OMIM:619951
HP:0000152	Abnormality of head or neck	94005	PIGS	OMIM:618143
HP:0000152	Abnormality of head or neck	3572	IL6ST	OMIM:619750
HP:0000152	Abnormality of head or neck	4683	NBN	OMIM:251260
HP:0000152	Abnormality of head or neck	4683	NBN	ORPHA:647
HP:0000152	Abnormality of head or neck	51126	NAA20	OMIM:619717
HP:0000152	Abnormality of head or neck	6885	MAP3K7	OMIM:617137
HP:0000152	Abnormality of head or neck	26053	AUTS2	OMIM:615834
HP:0000152	Abnormality of head or neck	55627	SMPD4	OMIM:618622
HP:0000152	Abnormality of head or neck	8818	DPM2	ORPHA:329178
HP:0000152	Abnormality of head or neck	9968	MED12	OMIM:309520
HP:0000152	Abnormality of head or neck	2131	EXT1	ORPHA:502
HP:0000152	Abnormality of head or neck	7227	TRPS1	ORPHA:502
HP:0000152	Abnormality of head or neck	7227	TRPS1	OMIM:190350
HP:0000152	Abnormality of head or neck	55209	SETD5	ORPHA:404440
HP:0000152	Abnormality of head or neck	7707	ZNF148	OMIM:617260
HP:0000152	Abnormality of head or neck	1806	DPYD	ORPHA:1675
HP:0000152	Abnormality of head or neck	5500	PPP1CB	OMIM:617506
HP:0000152	Abnormality of head or neck	5500	PPP1CB	ORPHA:2701
HP:0000152	Abnormality of head or neck	64093	SMOC1	OMIM:206920
HP:0000152	Abnormality of head or neck	9915	ARNT2	OMIM:615926
HP:0000152	Abnormality of head or neck	6925	TCF4	OMIM:610954
HP:0000152	Abnormality of head or neck	4952	OCRL	ORPHA:534
HP:0000152	Abnormality of head or neck	57231	SNX14	ORPHA:397709
HP:0000152	Abnormality of head or neck	55343	SLC35C1	ORPHA:99843
HP:0000152	Abnormality of head or neck	4626	MYH8	OMIM:158300
HP:0000152	Abnormality of head or neck	4256	MGP	OMIM:245150
HP:0000152	Abnormality of head or neck	8260	NAA10	OMIM:300855
HP:0000152	Abnormality of head or neck	3339	HSPG2	OMIM:255800
HP:0000152	Abnormality of head or neck	22856	CHSY1	OMIM:605282
HP:0000152	Abnormality of head or neck	64324	NSD1	ORPHA:3447
HP:0000152	Abnormality of head or neck	8726	EED	ORPHA:3447
HP:0000152	Abnormality of head or neck	23512	SUZ12	ORPHA:3447
HP:0000152	Abnormality of head or neck	2146	EZH2	ORPHA:3447
HP:0000152	Abnormality of head or neck	7546	ZIC2	OMIM:609637
HP:0000152	Abnormality of head or neck	6792	CDKL5	ORPHA:505652
HP:0000152	Abnormality of head or neck	1387	CREBBP	OMIM:618332
HP:0000152	Abnormality of head or neck	6261	RYR1	OMIM:619542
HP:0000152	Abnormality of head or neck	2033	EP300	OMIM:618333
HP:0000152	Abnormality of head or neck	3832	KIF11	OMIM:152950
HP:0000152	Abnormality of head or neck	5087	PBX1	OMIM:617641
HP:0000152	Abnormality of head or neck	5567	PRKACB	OMIM:619143
HP:0000152	Abnormality of head or neck	26173	INTS1	OMIM:618571
HP:0000152	Abnormality of head or neck	867	CBL	OMIM:613563
HP:0000152	Abnormality of head or neck	8036	SHOC2	ORPHA:2701
HP:0000152	Abnormality of head or neck	51025	PAM16	OMIM:613320
HP:0000152	Abnormality of head or neck	4858	NOVA2	OMIM:618859
HP:0000152	Abnormality of head or neck	7020	TFAP2A	ORPHA:1297
HP:0000152	Abnormality of head or neck	7319	UBE2A	ORPHA:163956
HP:0000152	Abnormality of head or neck	9343	EFTUD2	OMIM:610536
HP:0000152	Abnormality of head or neck	2200	FBN1	OMIM:102370
HP:0000152	Abnormality of head or neck	6888	TALDO1	OMIM:606003
HP:0000152	Abnormality of head or neck	5813	PURA	ORPHA:314655
HP:0000152	Abnormality of head or neck	9949	AMMECR1	OMIM:300990
HP:0000152	Abnormality of head or neck	90161	HS6ST2	OMIM:301025
HP:0000152	Abnormality of head or neck	55217	TMLHE	OMIM:300872
HP:0000152	Abnormality of head or neck	57551	TAOK1	OMIM:619575
HP:0000152	Abnormality of head or neck	55898	UNC45A	OMIM:619377
HP:0000152	Abnormality of head or neck	54941	RNF125	OMIM:616260
HP:0000152	Abnormality of head or neck	2332	FMR1	ORPHA:908
HP:0000152	Abnormality of head or neck	2332	FMR1	OMIM:300624
HP:0000152	Abnormality of head or neck	114034	TOE1	OMIM:614969
HP:0000152	Abnormality of head or neck	5457	POU4F1	ORPHA:314647
HP:0000152	Abnormality of head or neck	23261	CAMTA1	ORPHA:314647
HP:0000152	Abnormality of head or neck	23261	CAMTA1	OMIM:614756
HP:0000152	Abnormality of head or neck	8405	SPOP	OMIM:618829
HP:0000152	Abnormality of head or neck	285362	SUMF1	OMIM:272200
HP:0000152	Abnormality of head or neck	221496	LEMD2	OMIM:619322
HP:0000152	Abnormality of head or neck	4212	MEIS2	OMIM:600987
HP:0000152	Abnormality of head or neck	92335	STRADA	OMIM:611087
HP:0000152	Abnormality of head or neck	5144	PDE4D	ORPHA:439822
HP:0000152	Abnormality of head or neck	4010	LMX1B	ORPHA:495818
HP:0000152	Abnormality of head or neck	6812	STXBP1	ORPHA:495818
HP:0000152	Abnormality of head or neck	65082	VPS33A	OMIM:617303
HP:0000152	Abnormality of head or neck	4953	ODC1	ORPHA:544488
HP:0000152	Abnormality of head or neck	2783	GNB2	OMIM:619503
HP:0000152	Abnormality of head or neck	196528	ARID2	OMIM:617808
HP:0000152	Abnormality of head or neck	5728	PTEN	ORPHA:79076
HP:0000152	Abnormality of head or neck	657	BMPR1A	ORPHA:79076
HP:0000152	Abnormality of head or neck	6714	SRC	OMIM:616937
HP:0000152	Abnormality of head or neck	10584	COLEC10	OMIM:248340
HP:0000152	Abnormality of head or neck	54101	RIPK4	OMIM:263650
HP:0000152	Abnormality of head or neck	2121	EVC	ORPHA:952
HP:0000152	Abnormality of head or neck	132884	EVC2	ORPHA:952
HP:0000152	Abnormality of head or neck	2137	EXTL3	ORPHA:508533
HP:0000152	Abnormality of head or neck	1718	DHCR24	OMIM:602398
HP:0000152	Abnormality of head or neck	1718	DHCR24	ORPHA:35107
HP:0000152	Abnormality of head or neck	1497	CTNS	OMIM:219800
HP:0000152	Abnormality of head or neck	11253	MAN1B1	ORPHA:397941
HP:0000152	Abnormality of head or neck	1139	CHRNA7	ORPHA:199318
HP:0000152	Abnormality of head or neck	83932	SPRTN	OMIM:616200
HP:0000152	Abnormality of head or neck	9820	CUL7	ORPHA:2616
HP:0000152	Abnormality of head or neck	9820	CUL7	OMIM:273750
HP:0000152	Abnormality of head or neck	23363	OBSL1	ORPHA:2616
HP:0000152	Abnormality of head or neck	23363	OBSL1	OMIM:612921
HP:0000152	Abnormality of head or neck	83987	CCDC8	ORPHA:2616
HP:0000152	Abnormality of head or neck	83987	CCDC8	OMIM:614205
HP:0000152	Abnormality of head or neck	7360	UGP2	OMIM:618744
HP:0000152	Abnormality of head or neck	9578	CDC42BPB	OMIM:619841
HP:0000152	Abnormality of head or neck	2737	GLI3	ORPHA:380
HP:0000152	Abnormality of head or neck	2737	GLI3	OMIM:175700
HP:0000152	Abnormality of head or neck	3021	H3-3B	OMIM:619721
HP:0000152	Abnormality of head or neck	1855	DVL1	OMIM:616331
HP:0000152	Abnormality of head or neck	1855	DVL1	OMIM:180700
HP:0000152	Abnormality of head or neck	1855	DVL1	ORPHA:3107
HP:0000152	Abnormality of head or neck	8942	KYNU	OMIM:617661
HP:0000152	Abnormality of head or neck	55790	CSGALNACT1	OMIM:618870
HP:0000152	Abnormality of head or neck	5830	PEX5	OMIM:202370
HP:0000152	Abnormality of head or neck	2201	FBN2	OMIM:121050
HP:0000152	Abnormality of head or neck	4286	MITF	OMIM:617306
HP:0000152	Abnormality of head or neck	120227	CYP2R1	OMIM:600081
HP:0000152	Abnormality of head or neck	120227	CYP2R1	ORPHA:289157
HP:0000152	Abnormality of head or neck	57539	WDR35	ORPHA:1515
HP:0000152	Abnormality of head or neck	57539	WDR35	OMIM:613610
HP:0000152	Abnormality of head or neck	57539	WDR35	ORPHA:93271
HP:0000152	Abnormality of head or neck	51098	IFT52	ORPHA:1515
HP:0000152	Abnormality of head or neck	6660	SOX5	ORPHA:313892
HP:0000152	Abnormality of head or neck	6660	SOX5	OMIM:616803
HP:0000152	Abnormality of head or neck	1896	EDA	OMIM:305100
HP:0000152	Abnormality of head or neck	1896	EDA	ORPHA:181
HP:0000152	Abnormality of head or neck	54	ACP5	OMIM:607944
HP:0000152	Abnormality of head or neck	5191	PEX7	OMIM:215100
HP:0000152	Abnormality of head or neck	2035	EPB41	ORPHA:288
HP:0000152	Abnormality of head or neck	2995	GYPC	ORPHA:288
HP:0000152	Abnormality of head or neck	6710	SPTB	ORPHA:288
HP:0000152	Abnormality of head or neck	6708	SPTA1	ORPHA:288
HP:0000152	Abnormality of head or neck	10484	SEC23A	OMIM:607812
HP:0000152	Abnormality of head or neck	10484	SEC23A	ORPHA:50814
HP:0000152	Abnormality of head or neck	1105	CHD1	OMIM:617682
HP:0000152	Abnormality of head or neck	1105	CHD1	ORPHA:529965
HP:0000152	Abnormality of head or neck	10815	CPLX1	ORPHA:280
HP:0000152	Abnormality of head or neck	54872	PIGG	ORPHA:280
HP:0000152	Abnormality of head or neck	7469	NELFA	ORPHA:280
HP:0000152	Abnormality of head or neck	1487	CTBP1	ORPHA:280
HP:0000152	Abnormality of head or neck	1487	CTBP1	OMIM:617915
HP:0000152	Abnormality of head or neck	3954	LETM1	ORPHA:280
HP:0000152	Abnormality of head or neck	7468	NSD2	ORPHA:280
HP:0000152	Abnormality of head or neck	1656	DDX6	OMIM:618653
HP:0000152	Abnormality of head or neck	1594	CYP27B1	OMIM:264700
HP:0000152	Abnormality of head or neck	1594	CYP27B1	ORPHA:289157
HP:0000152	Abnormality of head or neck	1301	COL11A1	OMIM:228520
HP:0000152	Abnormality of head or neck	1301	COL11A1	ORPHA:440354
HP:0000152	Abnormality of head or neck	1301	COL11A1	ORPHA:560
HP:0000152	Abnormality of head or neck	6602	SMARCD1	OMIM:618779
HP:0000152	Abnormality of head or neck	26038	CHD5	OMIM:619873
HP:0000152	Abnormality of head or neck	3043	HBB	ORPHA:231214
HP:0000152	Abnormality of head or neck	3043	HBB	ORPHA:231226
HP:0000152	Abnormality of head or neck	6905	TBCE	OMIM:241410
HP:0000152	Abnormality of head or neck	142680	SLC34A3	OMIM:241530
HP:0000152	Abnormality of head or neck	57167	SALL4	OMIM:147750
HP:0000152	Abnormality of head or neck	5048	PAFAH1B1	ORPHA:217385
HP:0000152	Abnormality of head or neck	7531	YWHAE	ORPHA:217385
HP:0000152	Abnormality of head or neck	3481	IGF2	OMIM:616489
HP:0000152	Abnormality of head or neck	3481	IGF2	OMIM:180860
HP:0000152	Abnormality of head or neck	3481	IGF2	ORPHA:397590
HP:0000152	Abnormality of head or neck	92609	TIMM50	OMIM:617698
HP:0000152	Abnormality of head or neck	3098	HK1	OMIM:618547
HP:0000152	Abnormality of head or neck	5590	PRKCZ	ORPHA:1606
HP:0000152	Abnormality of head or neck	2563	GABRD	ORPHA:1606
HP:0000152	Abnormality of head or neck	23013	SPEN	ORPHA:1606
HP:0000152	Abnormality of head or neck	23013	SPEN	OMIM:619312
HP:0000152	Abnormality of head or neck	8510	MMP23B	ORPHA:1606
HP:0000152	Abnormality of head or neck	7798	LUZP1	ORPHA:1606
HP:0000152	Abnormality of head or neck	6497	SKI	ORPHA:1606
HP:0000152	Abnormality of head or neck	6497	SKI	ORPHA:2462
HP:0000152	Abnormality of head or neck	6497	SKI	OMIM:182212
HP:0000152	Abnormality of head or neck	10630	PDPN	ORPHA:1606
HP:0000152	Abnormality of head or neck	10277	UBE4B	ORPHA:1606
HP:0000152	Abnormality of head or neck	8514	KCNAB2	ORPHA:1606
HP:0000152	Abnormality of head or neck	473	RERE	ORPHA:1606
HP:0000152	Abnormality of head or neck	473	RERE	ORPHA:494344
HP:0000152	Abnormality of head or neck	473	RERE	OMIM:616975
HP:0000152	Abnormality of head or neck	63976	PRDM16	ORPHA:1606
HP:0000152	Abnormality of head or neck	54897	CASZ1	ORPHA:1606
HP:0000152	Abnormality of head or neck	5727	PTCH1	OMIM:610828
HP:0000152	Abnormality of head or neck	5727	PTCH1	ORPHA:377
HP:0000152	Abnormality of head or neck	5727	PTCH1	OMIM:109400
HP:0000152	Abnormality of head or neck	79796	ALG9	ORPHA:79328
HP:0000152	Abnormality of head or neck	79796	ALG9	OMIM:608776
HP:0000152	Abnormality of head or neck	8314	BAP1	OMIM:619762
HP:0000152	Abnormality of head or neck	83479	DDX59	ORPHA:2919
HP:0000152	Abnormality of head or neck	83479	DDX59	OMIM:174300
HP:0000152	Abnormality of head or neck	6942	TCF20	OMIM:618430
HP:0000152	Abnormality of head or neck	2271	FH	OMIM:606812
HP:0000152	Abnormality of head or neck	4488	MSX2	OMIM:604757
HP:0000152	Abnormality of head or neck	8643	PTCH2	ORPHA:377
HP:0000152	Abnormality of head or neck	23556	PIGN	OMIM:614080
HP:0000152	Abnormality of head or neck	23007	PLCH1	OMIM:619895
HP:0000152	Abnormality of head or neck	249	ALPL	OMIM:241510
HP:0000152	Abnormality of head or neck	79989	IFT56	OMIM:619534
HP:0000152	Abnormality of head or neck	84168	ANTXR1	OMIM:230740
HP:0000152	Abnormality of head or neck	84168	ANTXR1	ORPHA:2067
HP:0000152	Abnormality of head or neck	7994	KAT6A	OMIM:616268
HP:0000152	Abnormality of head or neck	2720	GLB1	OMIM:230500
HP:0000152	Abnormality of head or neck	2720	GLB1	ORPHA:79255
HP:0000152	Abnormality of head or neck	3930	LBR	OMIM:169400
HP:0000152	Abnormality of head or neck	3930	LBR	OMIM:618019
HP:0000152	Abnormality of head or neck	1107	CHD3	OMIM:618205
HP:0000152	Abnormality of head or neck	2317	FLNB	OMIM:272460
HP:0000152	Abnormality of head or neck	2317	FLNB	OMIM:108721
HP:0000152	Abnormality of head or neck	2317	FLNB	OMIM:108720
HP:0000152	Abnormality of head or neck	2317	FLNB	OMIM:150250
HP:0000152	Abnormality of head or neck	1749	DLX5	OMIM:220600
HP:0000152	Abnormality of head or neck	9742	IFT140	OMIM:266920
HP:0000152	Abnormality of head or neck	1523	CUX1	OMIM:618330
HP:0000152	Abnormality of head or neck	5587	PRKD1	OMIM:617364
HP:0000152	Abnormality of head or neck	5426	POLE	OMIM:618336
HP:0000152	Abnormality of head or neck	5426	POLE	ORPHA:85173
HP:0000152	Abnormality of head or neck	4921	DDR2	OMIM:271665
HP:0000152	Abnormality of head or neck	8925	HERC1	OMIM:617011
HP:0000152	Abnormality of head or neck	54892	NCAPG2	OMIM:618460
HP:0000152	Abnormality of head or neck	23314	SATB2	ORPHA:251028
HP:0000152	Abnormality of head or neck	23314	SATB2	OMIM:612313
HP:0000152	Abnormality of head or neck	1277	COL1A1	OMIM:259420
HP:0000152	Abnormality of head or neck	1278	COL1A2	OMIM:259420
HP:0000152	Abnormality of head or neck	5515	PPP2CA	OMIM:618354
HP:0000152	Abnormality of head or neck	29998	BICRA	OMIM:619325
HP:0000152	Abnormality of head or neck	2710	GK	OMIM:307030
HP:0000152	Abnormality of head or neck	9126	SMC3	OMIM:610759
HP:0000152	Abnormality of head or neck	4784	NFIX	OMIM:602535
HP:0000152	Abnormality of head or neck	4784	NFIX	ORPHA:420179
HP:0000152	Abnormality of head or neck	3039	HBA1	ORPHA:98791
HP:0000152	Abnormality of head or neck	3040	HBA2	ORPHA:98791
HP:0000152	Abnormality of head or neck	4998	ORC1	OMIM:224690
HP:0000152	Abnormality of head or neck	10082	GPC6	OMIM:258315
HP:0000152	Abnormality of head or neck	10082	GPC6	ORPHA:93329
HP:0000152	Abnormality of head or neck	5831	PYCR1	OMIM:612940
HP:0000152	Abnormality of head or neck	116442	RAB39B	OMIM:311510
HP:0000152	Abnormality of head or neck	116442	RAB39B	ORPHA:2379
HP:0000152	Abnormality of head or neck	7703	PCGF2	OMIM:618371
HP:0000152	Abnormality of head or neck	23258	DENND5A	OMIM:617281
HP:0000152	Abnormality of head or neck	9496	TBX4	ORPHA:261279
HP:0000152	Abnormality of head or neck	8091	HMGA2	ORPHA:94063
HP:0000152	Abnormality of head or neck	8091	HMGA2	ORPHA:397590
HP:0000152	Abnormality of head or neck	23592	LEMD3	ORPHA:94063
HP:0000152	Abnormality of head or neck	10013	HDAC6	OMIM:300863
HP:0000152	Abnormality of head or neck	10013	HDAC6	ORPHA:163966
HP:0000152	Abnormality of head or neck	633	BGN	OMIM:300989
HP:0000152	Abnormality of head or neck	164	AP1G1	OMIM:619467
HP:0000152	Abnormality of head or neck	3977	LIFR	OMIM:601559
HP:0000152	Abnormality of head or neck	26040	SETBP1	OMIM:616078
HP:0000152	Abnormality of head or neck	26040	SETBP1	ORPHA:798
HP:0000152	Abnormality of head or neck	2475	MTOR	ORPHA:457485
HP:0000152	Abnormality of head or neck	2475	MTOR	OMIM:616638
HP:0000152	Abnormality of head or neck	4990	SIX6	OMIM:206900
HP:0000152	Abnormality of head or neck	6657	SOX2	OMIM:206900
HP:0000152	Abnormality of head or neck	9321	TRIP11	ORPHA:166272
HP:0000152	Abnormality of head or neck	9321	TRIP11	ORPHA:93299
HP:0000152	Abnormality of head or neck	4882	NPR2	OMIM:602875
HP:0000152	Abnormality of head or neck	4882	NPR2	ORPHA:40
HP:0000152	Abnormality of head or neck	57498	KIDINS220	OMIM:617296
HP:0000152	Abnormality of head or neck	10526	IPO8	OMIM:619472
HP:0000152	Abnormality of head or neck	10283	CWC27	OMIM:250410
HP:0000152	Abnormality of head or neck	10283	CWC27	ORPHA:166035
HP:0000152	Abnormality of head or neck	4796	TONSL	OMIM:271510
HP:0000152	Abnormality of head or neck	4796	TONSL	ORPHA:93357
HP:0000152	Abnormality of head or neck	2887	GRB10	ORPHA:96182
HP:0000152	Abnormality of head or neck	84172	POLR1B	ORPHA:861
HP:0000152	Abnormality of head or neck	9533	POLR1C	ORPHA:861
HP:0000152	Abnormality of head or neck	51082	POLR1D	ORPHA:861
HP:0000152	Abnormality of head or neck	6949	TCOF1	ORPHA:861
HP:0000152	Abnormality of head or neck	23405	DICER1	OMIM:618272
HP:0000152	Abnormality of head or neck	55210	ATAD3A	OMIM:617183
HP:0000152	Abnormality of head or neck	1298	COL9A2	OMIM:600204
HP:0000152	Abnormality of head or neck	3636	INPPL1	OMIM:258480
HP:0000152	Abnormality of head or neck	3636	INPPL1	ORPHA:2746
HP:0000152	Abnormality of head or neck	4841	NONO	OMIM:300967
HP:0000152	Abnormality of head or neck	4841	NONO	ORPHA:466791
HP:0000152	Abnormality of head or neck	8567	MADD	OMIM:619005
HP:0000152	Abnormality of head or neck	5058	PAK1	OMIM:618158
HP:0000152	Abnormality of head or neck	10651	MTX2	OMIM:619127
HP:0000152	Abnormality of head or neck	25839	COG4	ORPHA:85172
HP:0000152	Abnormality of head or neck	1028	CDKN1C	ORPHA:85173
HP:0000152	Abnormality of head or neck	1028	CDKN1C	ORPHA:397590
HP:0000152	Abnormality of head or neck	2799	GNS	OMIM:252940
HP:0000152	Abnormality of head or neck	55599	RNPC3	OMIM:618160
HP:0000152	Abnormality of head or neck	23387	SIK3	OMIM:618162
HP:0000152	Abnormality of head or neck	6904	TBCD	OMIM:617193
HP:0000152	Abnormality of head or neck	1984	EIF5A	OMIM:619376
HP:0000152	Abnormality of head or neck	89970	RSPRY1	ORPHA:457395
HP:0000152	Abnormality of head or neck	89970	RSPRY1	OMIM:616723
HP:0000152	Abnormality of head or neck	9487	PIGL	OMIM:280000
HP:0000152	Abnormality of head or neck	5557	PRIM1	OMIM:620005
HP:0000152	Abnormality of head or neck	3295	HSD17B4	OMIM:261515
HP:0000152	Abnormality of head or neck	83737	ITCH	ORPHA:228426
HP:0000152	Abnormality of head or neck	83737	ITCH	OMIM:613385
HP:0000152	Abnormality of head or neck	7474	WNT5A	OMIM:180700
HP:0000152	Abnormality of head or neck	7474	WNT5A	ORPHA:3107
HP:0000152	Abnormality of head or neck	9897	WASHC5	ORPHA:7
HP:0000152	Abnormality of head or neck	28952	CCDC22	ORPHA:7
HP:0000152	Abnormality of head or neck	55181	SMG8	OMIM:619268
HP:0000152	Abnormality of head or neck	27161	AGO2	OMIM:619149
HP:0000152	Abnormality of head or neck	284361	EMC10	OMIM:619264
HP:0000152	Abnormality of head or neck	7421	VDR	ORPHA:93160
HP:0000152	Abnormality of head or neck	7421	VDR	OMIM:277440
HP:0000152	Abnormality of head or neck	55503	TRPV6	OMIM:618188
HP:0000152	Abnormality of head or neck	775	CACNA1C	OMIM:620029
HP:0000152	Abnormality of head or neck	4983	OPHN1	OMIM:300486
HP:0000152	Abnormality of head or neck	4774	NFIA	ORPHA:401986
HP:0000152	Abnormality of head or neck	55112	DYNC2I1	ORPHA:93271
HP:0000152	Abnormality of head or neck	57560	IFT80	ORPHA:93271
HP:0000152	Abnormality of head or neck	79659	DYNC2H1	ORPHA:93271
HP:0000152	Abnormality of head or neck	89891	DYNC2I2	ORPHA:93271
HP:0000152	Abnormality of head or neck	4281	MID1	OMIM:300000
HP:0000152	Abnormality of head or neck	2314	FLII	ORPHA:819
HP:0000152	Abnormality of head or neck	23096	IQSEC2	ORPHA:819
HP:0000152	Abnormality of head or neck	10743	RAI1	ORPHA:819
HP:0000152	Abnormality of head or neck	10522	DEAF1	ORPHA:819
HP:0000152	Abnormality of head or neck	10522	DEAF1	OMIM:615828
HP:0000152	Abnormality of head or neck	6662	SOX9	OMIM:114290
HP:0000152	Abnormality of head or neck	5744	PTHLH	ORPHA:93387
HP:0000152	Abnormality of head or neck	3239	HOXD13	ORPHA:93387
HP:0000152	Abnormality of head or neck	4758	NEU1	ORPHA:812
HP:0000152	Abnormality of head or neck	150468	CKAP2L	ORPHA:3255
HP:0000152	Abnormality of head or neck	4038	LRP4	ORPHA:3258
HP:0000152	Abnormality of head or neck	4038	LRP4	OMIM:614305
HP:0000152	Abnormality of head or neck	324	APC	ORPHA:3258
HP:0000152	Abnormality of head or neck	51360	MBTPS2	ORPHA:2273
HP:0000152	Abnormality of head or neck	57492	ARID1B	OMIM:135900
HP:0000152	Abnormality of head or neck	672	BRCA1	ORPHA:84
HP:0000152	Abnormality of head or neck	10459	MAD2L2	ORPHA:84
HP:0000152	Abnormality of head or neck	7516	XRCC2	ORPHA:84
HP:0000152	Abnormality of head or neck	29089	UBE2T	ORPHA:84
HP:0000152	Abnormality of head or neck	675	BRCA2	ORPHA:84
HP:0000152	Abnormality of head or neck	55120	FANCL	ORPHA:84
HP:0000152	Abnormality of head or neck	2177	FANCD2	ORPHA:84
HP:0000152	Abnormality of head or neck	2175	FANCA	ORPHA:84
HP:0000152	Abnormality of head or neck	2187	FANCB	ORPHA:84
HP:0000152	Abnormality of head or neck	2176	FANCC	ORPHA:84
HP:0000152	Abnormality of head or neck	2178	FANCE	ORPHA:84
HP:0000152	Abnormality of head or neck	2188	FANCF	ORPHA:84
HP:0000152	Abnormality of head or neck	2189	FANCG	ORPHA:84
HP:0000152	Abnormality of head or neck	5888	RAD51	ORPHA:84
HP:0000152	Abnormality of head or neck	5889	RAD51C	ORPHA:84
HP:0000152	Abnormality of head or neck	55159	RFWD3	ORPHA:84
HP:0000152	Abnormality of head or neck	83990	BRIP1	ORPHA:84
HP:0000152	Abnormality of head or neck	57697	FANCM	ORPHA:84
HP:0000152	Abnormality of head or neck	79728	PALB2	ORPHA:84
HP:0000152	Abnormality of head or neck	84464	SLX4	ORPHA:84
HP:0000152	Abnormality of head or neck	2072	ERCC4	ORPHA:84
HP:0000152	Abnormality of head or neck	55215	FANCI	ORPHA:84
HP:0000152	Abnormality of head or neck	83550	GPR101	ORPHA:963
HP:0000152	Abnormality of head or neck	9049	AIP	ORPHA:963
HP:0000152	Abnormality of head or neck	9049	AIP	ORPHA:99725
HP:0000152	Abnormality of head or neck	9377	COX5A	OMIM:619064
HP:0000152	Abnormality of head or neck	9839	ZEB2	ORPHA:261552
HP:0000152	Abnormality of head or neck	1327	COX4I1	OMIM:619060
HP:0000152	Abnormality of head or neck	860	RUNX2	OMIM:119600
HP:0000152	Abnormality of head or neck	860	RUNX2	ORPHA:1452
HP:0000152	Abnormality of head or neck	9184	BUB3	ORPHA:1052
HP:0000152	Abnormality of head or neck	699	BUB1	ORPHA:1052
HP:0000152	Abnormality of head or neck	9702	CEP57	ORPHA:1052
HP:0000152	Abnormality of head or neck	9702	CEP57	OMIM:614114
HP:0000152	Abnormality of head or neck	9319	TRIP13	ORPHA:1052
HP:0000152	Abnormality of head or neck	701	BUB1B	ORPHA:1052
HP:0000152	Abnormality of head or neck	4591	TRIM37	OMIM:253250
HP:0000152	Abnormality of head or neck	1954	MEGF8	OMIM:614976
HP:0000152	Abnormality of head or neck	4338	MOCS2	OMIM:252160
HP:0000152	Abnormality of head or neck	25942	SIN3A	OMIM:613406
HP:0000152	Abnormality of head or neck	6197	RPS6KA3	ORPHA:276630
HP:0000152	Abnormality of head or neck	6197	RPS6KA3	ORPHA:192
HP:0000152	Abnormality of head or neck	1857	DVL3	ORPHA:3107
HP:0000152	Abnormality of head or neck	1857	DVL3	OMIM:616894
HP:0000152	Abnormality of head or neck	2535	FZD2	ORPHA:3107
HP:0000152	Abnormality of head or neck	2535	FZD2	OMIM:164745
HP:0000152	Abnormality of head or neck	2535	FZD2	ORPHA:93328
HP:0000152	Abnormality of head or neck	285175	UNC80	OMIM:616801
HP:0000152	Abnormality of head or neck	285175	UNC80	ORPHA:371364
HP:0000152	Abnormality of head or neck	11128	POLR3A	OMIM:264090
HP:0000152	Abnormality of head or neck	11128	POLR3A	ORPHA:3455
HP:0000152	Abnormality of head or neck	57459	GATAD2B	ORPHA:363686
HP:0000152	Abnormality of head or neck	728294	D2HGDH	OMIM:600721
HP:0000152	Abnormality of head or neck	6774	STAT3	OMIM:147060
HP:0000152	Abnormality of head or neck	5159	PDGFRB	OMIM:601812
HP:0000152	Abnormality of head or neck	5324	PLAG1	ORPHA:397590
HP:0000152	Abnormality of head or neck	182	JAG1	OMIM:118450
HP:0000152	Abnormality of head or neck	4221	MEN1	ORPHA:99725
HP:0000152	Abnormality of head or neck	471	ATIC	OMIM:608688
HP:0000152	Abnormality of head or neck	114548	NLRP3	OMIM:607115
HP:0000152	Abnormality of head or neck	114548	NLRP3	ORPHA:1451
HP:0000152	Abnormality of head or neck	5295	PIK3R1	OMIM:269880
HP:0000152	Abnormality of head or neck	254065	BRWD3	OMIM:300659
HP:0000152	Abnormality of head or neck	9652	SKIC3	OMIM:222470
HP:0000152	Abnormality of head or neck	10661	KLF1	OMIM:613673
HP:0000152	Abnormality of head or neck	729920	CRPPA	OMIM:614643
HP:0000152	Abnormality of head or neck	1302	COL11A2	OMIM:614524
HP:0000152	Abnormality of head or neck	4313	MMP2	OMIM:259600
HP:0000152	Abnormality of head or neck	91252	SLC39A13	OMIM:612350
HP:0000152	Abnormality of head or neck	2702	GJA5	OMIM:612474
HP:0000152	Abnormality of head or neck	2703	GJA8	OMIM:612474
HP:0000152	Abnormality of head or neck	27152	INTU	OMIM:617925
HP:0000152	Abnormality of head or neck	51053	GMNN	OMIM:616835
HP:0000152	Abnormality of head or neck	132	ADK	OMIM:614300
HP:0000152	Abnormality of head or neck	9759	HDAC4	ORPHA:1001
HP:0000152	Abnormality of head or neck	11133	KPTN	OMIM:615637
HP:0000152	Abnormality of head or neck	11133	KPTN	ORPHA:397612
HP:0000152	Abnormality of head or neck	23028	KDM1A	OMIM:616728
HP:0000152	Abnormality of head or neck	79650	USB1	OMIM:604173
HP:0000152	Abnormality of head or neck	5160	PDHA1	OMIM:312170
HP:0000152	Abnormality of head or neck	4792	NFKBIA	OMIM:612132
HP:0000152	Abnormality of head or neck	2902	GRIN1	OMIM:617820
HP:0000152	Abnormality of head or neck	10735	STAG2	OMIM:301022
HP:0000152	Abnormality of head or neck	29940	DSE	OMIM:615539
HP:0000152	Abnormality of head or neck	8517	IKBKG	OMIM:300291
HP:0000152	Abnormality of head or neck	1000	CDH2	OMIM:618929
HP:0000152	Abnormality of head or neck	176	ACAN	OMIM:165800
HP:0000152	Abnormality of head or neck	3758	KCNJ1	OMIM:241200
HP:0000152	Abnormality of head or neck	54551	MAGEL2	OMIM:615547
HP:0000152	Abnormality of head or neck	9419	CRIPT	OMIM:615789
HP:0000152	Abnormality of head or neck	139285	AMER1	ORPHA:2780
HP:0000152	Abnormality of head or neck	139285	AMER1	OMIM:300373
HP:0000152	Abnormality of head or neck	55644	OSGEP	OMIM:617729
HP:0000152	Abnormality of head or neck	2313	FLI1	ORPHA:2308
HP:0000152	Abnormality of head or neck	2517	FUCA1	OMIM:230000
HP:0000152	Abnormality of head or neck	7204	TRIO	OMIM:618825
HP:0000152	Abnormality of head or neck	4337	MOCS1	OMIM:252150
HP:0000152	Abnormality of head or neck	51520	LARS1	OMIM:615438
HP:0000152	Abnormality of head or neck	4329	ALDH6A1	OMIM:614105
HP:0000152	Abnormality of head or neck	7040	TGFB1	ORPHA:1328
HP:0000152	Abnormality of head or neck	5293	PIK3CD	ORPHA:221139
HP:0000152	Abnormality of head or neck	90417	KNSTRN	ORPHA:221139
HP:0000152	Abnormality of head or neck	128178	EDARADD	OMIM:224900
HP:0000152	Abnormality of head or neck	10913	EDAR	OMIM:224900
HP:0000152	Abnormality of head or neck	60401	EDA2R	ORPHA:181
HP:0000152	Abnormality of head or neck	6519	SLC3A1	ORPHA:163690
HP:0000152	Abnormality of head or neck	6519	SLC3A1	ORPHA:163693
HP:0000152	Abnormality of head or neck	9581	PREPL	ORPHA:163690
HP:0000152	Abnormality of head or neck	9581	PREPL	ORPHA:163693
HP:0000152	Abnormality of head or neck	84628	NTNG2	OMIM:618718
HP:0000152	Abnormality of head or neck	113246	C12orf57	OMIM:218340
HP:0000152	Abnormality of head or neck	5495	PPM1B	ORPHA:163693
HP:0000152	Abnormality of head or neck	79823	CAMKMT	ORPHA:163693
HP:0000152	Abnormality of head or neck	51	ACOX1	OMIM:264470
HP:0000152	Abnormality of head or neck	5296	PIK3R2	OMIM:603387
HP:0000152	Abnormality of head or neck	126792	B3GALT6	ORPHA:536467
HP:0000152	Abnormality of head or neck	126792	B3GALT6	OMIM:615349
HP:0000152	Abnormality of head or neck	10020	GNE	OMIM:269921
HP:0000152	Abnormality of head or neck	8777	MPDZ	OMIM:615219
HP:0000152	Abnormality of head or neck	5449	POU1F1	OMIM:613038
HP:0000152	Abnormality of head or neck	23389	MED13L	OMIM:616789
HP:0000152	Abnormality of head or neck	9757	KMT2B	OMIM:619934
HP:0000152	Abnormality of head or neck	9469	CHST3	OMIM:245600
HP:0000152	Abnormality of head or neck	26229	B3GAT3	OMIM:245600
HP:0000152	Abnormality of head or neck	1280	COL2A1	OMIM:200610
HP:0000152	Abnormality of head or neck	2036	EPB41L1	OMIM:614257
HP:0000152	Abnormality of head or neck	10736	SIX2	ORPHA:488437
HP:0000152	Abnormality of head or neck	8398	PLA2G6	OMIM:256600
HP:0000152	Abnormality of head or neck	26281	FGF20	OMIM:615721
HP:0000152	Abnormality of head or neck	183	AGT	OMIM:267430
HP:0000152	Abnormality of head or neck	5972	REN	OMIM:267430
HP:0000152	Abnormality of head or neck	185	AGTR1	OMIM:267430
HP:0000152	Abnormality of head or neck	1636	ACE	OMIM:267430
HP:0000152	Abnormality of head or neck	7317	UBA1	ORPHA:1145
HP:0000152	Abnormality of head or neck	2674	GFRA1	OMIM:619887
HP:0000152	Abnormality of head or neck	5076	PAX2	ORPHA:97362
HP:0000152	Abnormality of head or neck	8516	ITGA8	OMIM:191830
HP:0000152	Abnormality of head or neck	27031	NPHP3	OMIM:208540
HP:0000152	Abnormality of head or neck	5314	PKHD1	OMIM:263200
HP:0000152	Abnormality of head or neck	25	ABL1	OMIM:617602
HP:0000152	Abnormality of head or neck	1289	COL5A1	OMIM:130000
HP:0000152	Abnormality of head or neck	55656	INTS8	OMIM:618572
HP:0000152	Abnormality of head or neck	84340	GFM2	OMIM:618397
HP:0000152	Abnormality of head or neck	84340	GFM2	ORPHA:565624
HP:0000152	Abnormality of head or neck	3908	LAMA2	ORPHA:258
HP:0000152	Abnormality of head or neck	29967	LRP12	OMIM:164310
HP:0000152	Abnormality of head or neck	9570	GOSR2	OMIM:620166
HP:0000152	Abnormality of head or neck	57731	SPTBN4	OMIM:617519
HP:0000152	Abnormality of head or neck	4620	MYH2	OMIM:605637
HP:0000152	Abnormality of head or neck	27072	VPS41	OMIM:619389
HP:0000152	Abnormality of head or neck	128989	TANGO2	OMIM:616878
HP:0000152	Abnormality of head or neck	6443	SGCB	ORPHA:119
HP:0000152	Abnormality of head or neck	3769	KCNJ13	ORPHA:65
HP:0000152	Abnormality of head or neck	343035	RD3	ORPHA:65
HP:0000152	Abnormality of head or neck	145226	RDH12	ORPHA:65
HP:0000152	Abnormality of head or neck	1406	CRX	ORPHA:65
HP:0000152	Abnormality of head or neck	10383	TUBB4B	ORPHA:65
HP:0000152	Abnormality of head or neck	85015	USP45	ORPHA:65
HP:0000152	Abnormality of head or neck	6121	RPE65	ORPHA:65
HP:0000152	Abnormality of head or neck	23418	CRB1	ORPHA:65
HP:0000152	Abnormality of head or neck	5130	PCYT1A	ORPHA:65
HP:0000152	Abnormality of head or neck	9657	IQCB1	ORPHA:65
HP:0000152	Abnormality of head or neck	23746	AIPL1	ORPHA:65
HP:0000152	Abnormality of head or neck	3000	GUCY2D	ORPHA:65
HP:0000152	Abnormality of head or neck	9227	LRAT	ORPHA:65
HP:0000152	Abnormality of head or neck	55812	SPATA7	ORPHA:65
HP:0000152	Abnormality of head or neck	7287	TULP1	ORPHA:65
HP:0000152	Abnormality of head or neck	167691	LCA5	ORPHA:65
HP:0000152	Abnormality of head or neck	3614	IMPDH1	ORPHA:65
HP:0000152	Abnormality of head or neck	160418	TMTC3	OMIM:617255
HP:0000152	Abnormality of head or neck	29925	GMPPB	ORPHA:370959
HP:0000152	Abnormality of head or neck	875	CBS	ORPHA:394
HP:0000152	Abnormality of head or neck	54084	TSPEAR	OMIM:618180
HP:0000152	Abnormality of head or neck	81607	NECTIN4	OMIM:613573
HP:0000152	Abnormality of head or neck	4047	LSS	ORPHA:2850
HP:0000152	Abnormality of head or neck	4047	LSS	ORPHA:55654
HP:0000152	Abnormality of head or neck	197	AHSG	ORPHA:2850
HP:0000152	Abnormality of head or neck	3694	ITGB6	ORPHA:2850
HP:0000152	Abnormality of head or neck	26128	KIFBP	ORPHA:66629
HP:0000152	Abnormality of head or neck	9076	CLDN1	ORPHA:59303
HP:0000152	Abnormality of head or neck	80326	WNT10A	OMIM:257980
HP:0000152	Abnormality of head or neck	80326	WNT10A	OMIM:150400
HP:0000152	Abnormality of head or neck	79669	C3orf52	OMIM:620177
HP:0000152	Abnormality of head or neck	200879	LIPH	OMIM:604379
HP:0000152	Abnormality of head or neck	200879	LIPH	ORPHA:55654
HP:0000152	Abnormality of head or neck	147183	KRT25	OMIM:616760
HP:0000152	Abnormality of head or neck	3122	HLA-DRA	ORPHA:505
HP:0000152	Abnormality of head or neck	3675	ITGA3	OMIM:614748
HP:0000152	Abnormality of head or neck	147495	APCDD1	ORPHA:55654
HP:0000152	Abnormality of head or neck	10161	LPAR6	ORPHA:55654
HP:0000152	Abnormality of head or neck	10161	LPAR6	OMIM:278150
HP:0000152	Abnormality of head or neck	25959	KANK2	OMIM:616099
HP:0000152	Abnormality of head or neck	79971	WLS	OMIM:619648
HP:0000152	Abnormality of head or neck	8815	BANF1	OMIM:614008
HP:0000152	Abnormality of head or neck	65057	ACD	ORPHA:3322
HP:0000152	Abnormality of head or neck	120766137	HRURF	OMIM:146550
HP:0000152	Abnormality of head or neck	64858	DCLRE1B	OMIM:620133
HP:0000152	Abnormality of head or neck	5317	PKP1	OMIM:604536
HP:0000152	Abnormality of head or neck	8313	AXIN2	OMIM:608615
HP:0000152	Abnormality of head or neck	1832	DSP	ORPHA:158687
HP:0000152	Abnormality of head or neck	3728	JUP	ORPHA:158687
HP:0000152	Abnormality of head or neck	64682	ANAPC1	OMIM:618625
HP:0000152	Abnormality of head or neck	3891	KRT85	OMIM:602032
HP:0000152	Abnormality of head or neck	55806	HR	ORPHA:701
HP:0000152	Abnormality of head or neck	55806	HR	OMIM:203655
HP:0000152	Abnormality of head or neck	10804	GJB6	ORPHA:189
HP:0000152	Abnormality of head or neck	10269	ZMPSTE24	ORPHA:740
HP:0000152	Abnormality of head or neck	84946	LTV1	OMIM:620199
HP:0000152	Abnormality of head or neck	5297	PI4KA	ORPHA:436252
HP:0000152	Abnormality of head or neck	57217	TTC7A	ORPHA:436252
HP:0000152	Abnormality of head or neck	1001	CDH3	ORPHA:1897
HP:0000152	Abnormality of head or neck	5077	PAX3	ORPHA:894
HP:0000152	Abnormality of head or neck	5077	PAX3	OMIM:193500
HP:0000152	Abnormality of head or neck	1910	EDNRB	OMIM:600501
HP:0000152	Abnormality of head or neck	1910	EDNRB	OMIM:277580
HP:0000152	Abnormality of head or neck	1910	EDNRB	ORPHA:897
HP:0000152	Abnormality of head or neck	1908	EDN3	OMIM:613265
HP:0000152	Abnormality of head or neck	1908	EDN3	ORPHA:897
HP:0000152	Abnormality of head or neck	79083	MLPH	OMIM:609227
HP:0000152	Abnormality of head or neck	4157	MC1R	ORPHA:79432
HP:0000152	Abnormality of head or neck	4948	OCA2	ORPHA:79432
HP:0000152	Abnormality of head or neck	7306	TYRP1	ORPHA:79433
HP:0000152	Abnormality of head or neck	6591	SNAI2	ORPHA:2884
HP:0000152	Abnormality of head or neck	3815	KIT	ORPHA:2884
HP:0000152	Abnormality of head or neck	4644	MYO5A	OMIM:214450
HP:0000152	Abnormality of head or neck	27019	DNAI1	OMIM:244400
HP:0000152	Abnormality of head or neck	27019	DNAI1	ORPHA:244
HP:0000152	Abnormality of head or neck	374407	DNAJB13	OMIM:617091
HP:0000152	Abnormality of head or neck	374407	DNAJB13	ORPHA:244
HP:0000152	Abnormality of head or neck	83538	ODAD4	OMIM:617092
HP:0000152	Abnormality of head or neck	83538	ODAD4	ORPHA:244
HP:0000152	Abnormality of head or neck	1770	DNAH9	OMIM:618300
HP:0000152	Abnormality of head or neck	1770	DNAH9	ORPHA:244
HP:0000152	Abnormality of head or neck	83861	RSPH3	OMIM:616481
HP:0000152	Abnormality of head or neck	83861	RSPH3	ORPHA:244
HP:0000152	Abnormality of head or neck	55130	ODAD2	OMIM:615451
HP:0000152	Abnormality of head or neck	55130	ODAD2	ORPHA:244
HP:0000152	Abnormality of head or neck	25981	DNAH1	OMIM:617577
HP:0000152	Abnormality of head or neck	25981	DNAH1	ORPHA:244
HP:0000152	Abnormality of head or neck	2622	GAS8	OMIM:616726
HP:0000152	Abnormality of head or neck	2622	GAS8	ORPHA:244
HP:0000152	Abnormality of head or neck	64446	DNAI2	OMIM:612444
HP:0000152	Abnormality of head or neck	64446	DNAI2	ORPHA:244
HP:0000152	Abnormality of head or neck	54970	TTC12	OMIM:618801
HP:0000152	Abnormality of head or neck	54970	TTC12	ORPHA:244
HP:0000152	Abnormality of head or neck	54440	SASH3	OMIM:301082
HP:0000152	Abnormality of head or neck	345895	RSPH4A	OMIM:612649
HP:0000152	Abnormality of head or neck	345895	RSPH4A	ORPHA:244
HP:0000152	Abnormality of head or neck	79087	ALG12	ORPHA:79324
HP:0000152	Abnormality of head or neck	29887	SNX10	ORPHA:667
HP:0000152	Abnormality of head or neck	115948	ODAD3	ORPHA:244
HP:0000152	Abnormality of head or neck	54768	HYDIN	ORPHA:244
HP:0000152	Abnormality of head or neck	54768	HYDIN	OMIM:608647
HP:0000152	Abnormality of head or neck	352909	DNAAF3	ORPHA:244
HP:0000152	Abnormality of head or neck	27148	STK36	ORPHA:244
HP:0000152	Abnormality of head or neck	51314	NME8	ORPHA:244
HP:0000152	Abnormality of head or neck	92749	DRC1	ORPHA:244
HP:0000152	Abnormality of head or neck	152110	NEK10	ORPHA:244
HP:0000152	Abnormality of head or neck	2302	FOXJ1	ORPHA:244
HP:0000152	Abnormality of head or neck	2302	FOXJ1	OMIM:618699
HP:0000152	Abnormality of head or neck	221421	RSPH9	ORPHA:244
HP:0000152	Abnormality of head or neck	221421	RSPH9	OMIM:612650
HP:0000152	Abnormality of head or neck	85478	CCDC65	ORPHA:244
HP:0000152	Abnormality of head or neck	55036	CCDC40	ORPHA:244
HP:0000152	Abnormality of head or neck	51364	ZMYND10	ORPHA:244
HP:0000152	Abnormality of head or neck	6674	SPAG1	ORPHA:244
HP:0000152	Abnormality of head or neck	83544	DNAL1	ORPHA:244
HP:0000152	Abnormality of head or neck	83544	DNAL1	OMIM:614017
HP:0000152	Abnormality of head or neck	89765	RSPH1	ORPHA:244
HP:0000152	Abnormality of head or neck	89765	RSPH1	OMIM:615481
HP:0000152	Abnormality of head or neck	200373	CFAP221	ORPHA:244
HP:0000152	Abnormality of head or neck	55172	DNAAF2	ORPHA:244
HP:0000152	Abnormality of head or neck	161582	DNAAF4	ORPHA:244
HP:0000152	Abnormality of head or neck	161582	DNAAF4	OMIM:615482
HP:0000152	Abnormality of head or neck	23639	DNAAF11	ORPHA:244
HP:0000152	Abnormality of head or neck	54919	DNAAF5	ORPHA:244
HP:0000152	Abnormality of head or neck	6103	RPGR	ORPHA:244
HP:0000152	Abnormality of head or neck	388389	CCDC103	ORPHA:244
HP:0000152	Abnormality of head or neck	388389	CCDC103	OMIM:614679
HP:0000152	Abnormality of head or neck	93233	ODAD1	ORPHA:244
HP:0000152	Abnormality of head or neck	1767	DNAH5	ORPHA:244
HP:0000152	Abnormality of head or neck	345643	MCIDAS	ORPHA:244
HP:0000152	Abnormality of head or neck	345643	MCIDAS	OMIM:618695
HP:0000152	Abnormality of head or neck	56683	CFAP298	ORPHA:244
HP:0000152	Abnormality of head or neck	79925	SPEF2	ORPHA:244
HP:0000152	Abnormality of head or neck	10309	CCNO	ORPHA:244
HP:0000152	Abnormality of head or neck	115399	LRRC56	ORPHA:244
HP:0000152	Abnormality of head or neck	139212	DNAAF6	ORPHA:244
HP:0000152	Abnormality of head or neck	123872	DNAAF1	ORPHA:244
HP:0000152	Abnormality of head or neck	85016	CFAP300	ORPHA:244
HP:0000152	Abnormality of head or neck	339829	CCDC39	ORPHA:244
HP:0000152	Abnormality of head or neck	8701	DNAH11	ORPHA:244
HP:0000152	Abnormality of head or neck	8701	DNAH11	OMIM:611884
HP:0000152	Abnormality of head or neck	246176	GAS2L2	ORPHA:244
HP:0000152	Abnormality of head or neck	22861	NLRP1	OMIM:615225
HP:0000152	Abnormality of head or neck	11005	SPINK5	OMIM:256500
HP:0000152	Abnormality of head or neck	55315	SLC29A3	ORPHA:168569
HP:0000152	Abnormality of head or neck	3192	HNRNPU	ORPHA:238769
HP:0000152	Abnormality of head or neck	6595	SMARCA2	OMIM:619293
HP:0000152	Abnormality of head or neck	2239	GPC4	OMIM:301026
HP:0000152	Abnormality of head or neck	2239	GPC4	ORPHA:2662
HP:0000152	Abnormality of head or neck	5898	RALA	OMIM:619311
HP:0000152	Abnormality of head or neck	7355	SLC35A2	OMIM:300896
HP:0000152	Abnormality of head or neck	1182	CLCN3	OMIM:619512
HP:0000152	Abnormality of head or neck	9320	TRIP12	OMIM:617752
HP:0000152	Abnormality of head or neck	145173	B3GLCT	OMIM:261540
HP:0000152	Abnormality of head or neck	145173	B3GLCT	ORPHA:709
HP:0000152	Abnormality of head or neck	6659	SOX4	OMIM:618506
HP:0000152	Abnormality of head or neck	81857	MED25	ORPHA:464738
HP:0000152	Abnormality of head or neck	4897	NRCAM	OMIM:619833
HP:0000152	Abnormality of head or neck	93627	TBCK	OMIM:616900
HP:0000152	Abnormality of head or neck	79753	SNIP1	OMIM:614501
HP:0000152	Abnormality of head or neck	773	CACNA1A	ORPHA:2131
HP:0000152	Abnormality of head or neck	6507	SLC1A3	ORPHA:2131
HP:0000152	Abnormality of head or neck	477	ATP1A2	ORPHA:2131
HP:0000152	Abnormality of head or neck	478	ATP1A3	ORPHA:2131
HP:0000152	Abnormality of head or neck	64359	NXN	ORPHA:1507
HP:0000152	Abnormality of head or neck	4920	ROR2	ORPHA:1507
HP:0000152	Abnormality of head or neck	11198	SUPT16H	OMIM:619480
HP:0000152	Abnormality of head or neck	374654	KIF7	OMIM:200990
HP:0000152	Abnormality of head or neck	3020	H3-3A	OMIM:619720
HP:0000152	Abnormality of head or neck	388015	RTL1	ORPHA:254528
HP:0000152	Abnormality of head or neck	8788	DLK1	ORPHA:254528
HP:0000152	Abnormality of head or neck	55384	MEG3	ORPHA:254528
HP:0000152	Abnormality of head or neck	9442	MED27	OMIM:619286
HP:0000152	Abnormality of head or neck	57178	ZMIZ1	OMIM:618659
HP:0000152	Abnormality of head or neck	9772	TMEM94	OMIM:618316
HP:0000152	Abnormality of head or neck	3720	JARID2	OMIM:620098
HP:0000152	Abnormality of head or neck	58499	ZNF462	OMIM:618619
HP:0000152	Abnormality of head or neck	4297	KMT2A	OMIM:605130
HP:0000152	Abnormality of head or neck	11340	EXOSC8	OMIM:616081
HP:0000152	Abnormality of head or neck	7443	VRK1	OMIM:607596
HP:0000152	Abnormality of head or neck	4718	NDUFC2	OMIM:619170
HP:0000152	Abnormality of head or neck	3899	AFF3	OMIM:619297
HP:0000152	Abnormality of head or neck	23219	FBXO28	OMIM:619777
HP:0000152	Abnormality of head or neck	284086	NEK8	OMIM:615415
HP:0000152	Abnormality of head or neck	8884	SLC5A6	OMIM:618973
HP:0000152	Abnormality of head or neck	23203	PMPCA	ORPHA:1170
HP:0000152	Abnormality of head or neck	51300	TIMMDC1	OMIM:618251
HP:0000152	Abnormality of head or neck	57716	PRX	OMIM:614895
HP:0000152	Abnormality of head or neck	1893	ECM1	ORPHA:530
HP:0000152	Abnormality of head or neck	5654	HTRA1	ORPHA:199354
HP:0000152	Abnormality of head or neck	54800	KLHL24	OMIM:617294
HP:0000152	Abnormality of head or neck	23328	SASH1	OMIM:618373
HP:0000152	Abnormality of head or neck	2192	FBLN1	ORPHA:404451
HP:0000152	Abnormality of head or neck	80856	LNPK	OMIM:618090
HP:0000152	Abnormality of head or neck	10846	PDE10A	ORPHA:494526
HP:0000152	Abnormality of head or neck	10846	PDE10A	OMIM:616921
HP:0000152	Abnormality of head or neck	55739	NAXD	OMIM:618321
HP:0000152	Abnormality of head or neck	57679	ALS2	OMIM:205100
HP:0000152	Abnormality of head or neck	57679	ALS2	OMIM:606353
HP:0000152	Abnormality of head or neck	6329	SCN4A	ORPHA:99734
HP:0000152	Abnormality of head or neck	79879	CCDC134	OMIM:619795
HP:0000152	Abnormality of head or neck	5593	PRKG2	OMIM:619638
HP:0000152	Abnormality of head or neck	5352	PLOD2	ORPHA:2771
HP:0000152	Abnormality of head or neck	5352	PLOD2	OMIM:609220
HP:0000152	Abnormality of head or neck	65125	WNK1	ORPHA:970
HP:0000152	Abnormality of head or neck	54463	RETREG1	ORPHA:970
HP:0000152	Abnormality of head or neck	11014	KDELR2	OMIM:619131
HP:0000152	Abnormality of head or neck	55603	TENT5A	OMIM:617952
HP:0000152	Abnormality of head or neck	90993	CREB3L1	OMIM:616229
HP:0000152	Abnormality of head or neck	5479	PPIB	OMIM:259440
HP:0000152	Abnormality of head or neck	387733	IFITM5	OMIM:610967
HP:0000152	Abnormality of head or neck	10273	STUB1	ORPHA:412057
HP:0000152	Abnormality of head or neck	10940	POP1	OMIM:617396
HP:0000152	Abnormality of head or neck	8985	PLOD3	OMIM:612394
HP:0000152	Abnormality of head or neck	81794	ADAMTS10	OMIM:277600
HP:0000152	Abnormality of head or neck	6473	SHOX	ORPHA:240
HP:0000152	Abnormality of head or neck	4524	MTHFR	ORPHA:563612
HP:0000152	Abnormality of head or neck	57216	VANGL2	ORPHA:563612
HP:0000152	Abnormality of head or neck	5162	PDHB	ORPHA:255138
HP:0000152	Abnormality of head or neck	5649	RELN	ORPHA:89844
HP:0000152	Abnormality of head or neck	10300	KATNB1	ORPHA:89844
HP:0000152	Abnormality of head or neck	54820	NDE1	ORPHA:89844
HP:0000152	Abnormality of head or neck	3178	HNRNPA1	ORPHA:52430
HP:0000152	Abnormality of head or neck	7415	VCP	ORPHA:52430
HP:0000152	Abnormality of head or neck	3181	HNRNPA2B1	ORPHA:52430
HP:0000152	Abnormality of head or neck	6424	SFRP4	OMIM:265900
HP:0000152	Abnormality of head or neck	64135	IFIH1	OMIM:182250
HP:0000152	Abnormality of head or neck	6611	SMS	OMIM:309583
HP:0000152	Abnormality of head or neck	166929	SGMS2	OMIM:126550
HP:0000152	Abnormality of head or neck	84196	USP48	ORPHA:96253
HP:0000152	Abnormality of head or neck	7157	TP53	ORPHA:96253
HP:0000152	Abnormality of head or neck	9101	USP8	ORPHA:96253
HP:0000152	Abnormality of head or neck	64072	CDH23	ORPHA:96253
HP:0000152	Abnormality of head or neck	2908	NR3C1	ORPHA:96253
HP:0000152	Abnormality of head or neck	8493	PPM1D	OMIM:617450
HP:0000152	Abnormality of head or neck	29899	GPSM2	OMIM:604213
HP:0000152	Abnormality of head or neck	137682	NDUFAF6	OMIM:618239
HP:0000152	Abnormality of head or neck	8888	MCM3AP	OMIM:618124
HP:0000152	Abnormality of head or neck	388662	SLC6A17	ORPHA:457212
HP:0000152	Abnormality of head or neck	6522	SLC4A2	OMIM:620366
HP:0000152	Abnormality of head or neck	79651	RHBDF2	OMIM:148500
HP:0000152	Abnormality of head or neck	286887	KRT6C	OMIM:615735
HP:0000152	Abnormality of head or neck	6117	RPA1	OMIM:619767
HP:0000152	Abnormality of head or neck	83483	PLVAP	OMIM:618183
HP:0000152	Abnormality of head or neck	3932	LCK	OMIM:615758
HP:0000152	Abnormality of head or neck	6809	STX3	OMIM:619446
HP:0000152	Abnormality of head or neck	11151	CORO1A	OMIM:615401
HP:0000152	Abnormality of head or neck	3952	LEP	ORPHA:66628
HP:0000152	Abnormality of head or neck	3952	LEP	OMIM:614962
HP:0000152	Abnormality of head or neck	3953	LEPR	OMIM:614963
HP:0000152	Abnormality of head or neck	3953	LEPR	ORPHA:179494
HP:0000152	Abnormality of head or neck	8456	FOXN1	OMIM:618806
HP:0000152	Abnormality of head or neck	6772	STAT1	ORPHA:391487
HP:0000152	Abnormality of head or neck	10043	TOM1	ORPHA:391487
HP:0000152	Abnormality of head or neck	920	CD4	OMIM:619238
HP:0000152	Abnormality of head or neck	3570	IL6R	OMIM:618944
HP:0000152	Abnormality of head or neck	5971	RELB	OMIM:617585
HP:0000152	Abnormality of head or neck	7388	UQCRH	OMIM:620137
HP:0000152	Abnormality of head or neck	9138	ARHGEF1	OMIM:618459
HP:0000152	Abnormality of head or neck	3588	IL10RB	OMIM:612567
HP:0000152	Abnormality of head or neck	64840	PORCN	OMIM:305600
HP:0000152	Abnormality of head or neck	10999	SLC27A4	OMIM:608649
HP:0000152	Abnormality of head or neck	1369	CPN1	OMIM:212070
HP:0000152	Abnormality of head or neck	7941	PLA2G7	OMIM:147050
HP:0000152	Abnormality of head or neck	50615	IL21R	OMIM:147050
HP:0000152	Abnormality of head or neck	3566	IL4R	OMIM:147050
HP:0000152	Abnormality of head or neck	2206	MS4A2	OMIM:147050
HP:0000152	Abnormality of head or neck	146206	CARMIL2	OMIM:618131
HP:0000152	Abnormality of head or neck	5238	PGM3	ORPHA:443811
HP:0000152	Abnormality of head or neck	5238	PGM3	OMIM:615816
HP:0000152	Abnormality of head or neck	5336	PLCG2	OMIM:614468
HP:0000152	Abnormality of head or neck	84701	COX4I2	OMIM:612714
HP:0000152	Abnormality of head or neck	3514	IGKC	ORPHA:183675
HP:0000152	Abnormality of head or neck	3501	IGHG2	ORPHA:183675
HP:0000152	Abnormality of head or neck	10617	STAMBP	OMIM:614261
HP:0000152	Abnormality of head or neck	28960	DCPS	OMIM:616459
HP:0000152	Abnormality of head or neck	10606	PAICS	OMIM:619859
HP:0000152	Abnormality of head or neck	2770	GNAI1	OMIM:619854
HP:0000152	Abnormality of head or neck	2903	GRIN2A	ORPHA:289266
HP:0000152	Abnormality of head or neck	2903	GRIN2A	OMIM:245570
HP:0000152	Abnormality of head or neck	25973	PARS2	OMIM:618437
HP:0000152	Abnormality of head or neck	4208	MEF2C	ORPHA:228384
HP:0000152	Abnormality of head or neck	4208	MEF2C	OMIM:613443
HP:0000152	Abnormality of head or neck	551	AVP	OMIM:125700
HP:0000152	Abnormality of head or neck	11342	RNF13	OMIM:618379
HP:0000152	Abnormality of head or neck	11342	RNF13	ORPHA:544503
HP:0000152	Abnormality of head or neck	158	ADSL	OMIM:103050
HP:0000152	Abnormality of head or neck	158	ADSL	ORPHA:46
HP:0000152	Abnormality of head or neck	10978	CLP1	OMIM:615803
HP:0000152	Abnormality of head or neck	4001	LMNB1	OMIM:619179
HP:0000152	Abnormality of head or neck	8913	CACNA1G	OMIM:618087
HP:0000152	Abnormality of head or neck	1889	ECE1	OMIM:613870
HP:0000152	Abnormality of head or neck	2752	GLUL	OMIM:610015
HP:0000152	Abnormality of head or neck	5063	PAK3	OMIM:300558
HP:0000152	Abnormality of head or neck	2677	GGCX	OMIM:277450
HP:0000152	Abnormality of head or neck	80324	PUS1	ORPHA:2598
HP:0000152	Abnormality of head or neck	51067	YARS2	ORPHA:2598
HP:0000152	Abnormality of head or neck	7407	VARS1	OMIM:617802
HP:0000152	Abnormality of head or neck	3313	HSPA9	OMIM:616854
HP:0000152	Abnormality of head or neck	3767	KCNJ11	ORPHA:79134
HP:0000152	Abnormality of head or neck	6833	ABCC8	ORPHA:79134
HP:0000152	Abnormality of head or neck	10907	TXNL4A	ORPHA:1200
HP:0000152	Abnormality of head or neck	202018	TAPT1	OMIM:616897
HP:0000152	Abnormality of head or neck	54676	GTPBP2	OMIM:617988
HP:0000152	Abnormality of head or neck	5331	PLCB3	OMIM:618961
HP:0000152	Abnormality of head or neck	11141	IL1RAPL1	OMIM:300143
HP:0000152	Abnormality of head or neck	92935	MARS2	OMIM:616430
HP:0000152	Abnormality of head or neck	406932	MIR140	OMIM:618618
HP:0000152	Abnormality of head or neck	2591	GALNT3	OMIM:211900
HP:0000152	Abnormality of head or neck	1834	DSPP	OMIM:125420
HP:0000152	Abnormality of head or neck	3166	HMX1	OMIM:612109
HP:0000152	Abnormality of head or neck	5805	PTS	ORPHA:13
HP:0000152	Abnormality of head or neck	5805	PTS	OMIM:261640
HP:0000152	Abnormality of head or neck	3106	HLA-B	ORPHA:36426
HP:0000152	Abnormality of head or neck	10320	IKZF1	ORPHA:36426
HP:0000152	Abnormality of head or neck	5860	QDPR	OMIM:261630
HP:0000152	Abnormality of head or neck	57468	SLC12A5	OMIM:616645
HP:0000152	Abnormality of head or neck	2643	GCH1	OMIM:233910
HP:0000152	Abnormality of head or neck	9256	TSPOAP1	ORPHA:101150
HP:0000152	Abnormality of head or neck	94	ACVRL1	OMIM:600376
HP:0000152	Abnormality of head or neck	2022	ENG	OMIM:187300
HP:0000152	Abnormality of head or neck	2811	GP1BA	ORPHA:274
HP:0000152	Abnormality of head or neck	2815	GP9	ORPHA:274
HP:0000152	Abnormality of head or neck	84343	HPS3	OMIM:614072
HP:0000152	Abnormality of head or neck	3674	ITGA2B	ORPHA:849
HP:0000152	Abnormality of head or neck	3690	ITGB3	ORPHA:849
HP:0000152	Abnormality of head or neck	4627	MYH9	ORPHA:182050
HP:0000152	Abnormality of head or neck	1130	LYST	OMIM:214500
HP:0000152	Abnormality of head or neck	2658	GDF2	OMIM:615506
HP:0000152	Abnormality of head or neck	3064	HTT	ORPHA:399
HP:0000152	Abnormality of head or neck	6515	SLC2A3	ORPHA:399
HP:0000152	Abnormality of head or neck	3972	LHB	OMIM:228300
HP:0000152	Abnormality of head or neck	558	AXL	OMIM:146110
HP:0000152	Abnormality of head or neck	2798	GNRHR	OMIM:146110
HP:0000152	Abnormality of head or neck	2796	GNRH1	OMIM:146110
HP:0000152	Abnormality of head or neck	10011	SRA1	OMIM:146110
HP:0000152	Abnormality of head or neck	4771	NF2	ORPHA:2495
HP:0000152	Abnormality of head or neck	6608	SMO	ORPHA:2495
HP:0000152	Abnormality of head or neck	7015	TERT	ORPHA:2495
HP:0000152	Abnormality of head or neck	2488	FSHB	OMIM:229070
HP:0000152	Abnormality of head or neck	10194	TSHZ1	OMIM:607842
HP:0000152	Abnormality of head or neck	23767	FLRT3	OMIM:615271
HP:0000152	Abnormality of head or neck	23767	FLRT3	ORPHA:478
HP:0000152	Abnormality of head or neck	128674	PROKR2	OMIM:244200
HP:0000152	Abnormality of head or neck	128674	PROKR2	ORPHA:478
HP:0000152	Abnormality of head or neck	11020	IFT27	OMIM:615996
HP:0000152	Abnormality of head or neck	120892	LRRK2	OMIM:607060
HP:0000152	Abnormality of head or neck	120892	LRRK2	ORPHA:411602
HP:0000152	Abnormality of head or neck	120892	LRRK2	ORPHA:2828
HP:0000152	Abnormality of head or neck	59335	PRDM12	OMIM:616488
HP:0000152	Abnormality of head or neck	54585	LZTFL1	OMIM:615994
HP:0000152	Abnormality of head or neck	23317	DNAJC13	ORPHA:411602
HP:0000152	Abnormality of head or neck	1981	EIF4G1	ORPHA:411602
HP:0000152	Abnormality of head or neck	55737	VPS35	ORPHA:411602
HP:0000152	Abnormality of head or neck	26058	GIGYF2	ORPHA:411602
HP:0000152	Abnormality of head or neck	6622	SNCA	ORPHA:411602
HP:0000152	Abnormality of head or neck	6622	SNCA	ORPHA:2828
HP:0000152	Abnormality of head or neck	2253	FGF8	OMIM:612702
HP:0000152	Abnormality of head or neck	2253	FGF8	ORPHA:478
HP:0000152	Abnormality of head or neck	60675	PROK2	OMIM:610628
HP:0000152	Abnormality of head or neck	60675	PROK2	ORPHA:478
HP:0000152	Abnormality of head or neck	3730	ANOS1	OMIM:308700
HP:0000152	Abnormality of head or neck	3730	ANOS1	ORPHA:478
HP:0000152	Abnormality of head or neck	81848	SPRY4	OMIM:615266
HP:0000152	Abnormality of head or neck	81848	SPRY4	ORPHA:478
HP:0000152	Abnormality of head or neck	6335	SCN9A	OMIM:243000
HP:0000152	Abnormality of head or neck	109	ADCY3	OMIM:617885
HP:0000152	Abnormality of head or neck	10371	SEMA3A	OMIM:614897
HP:0000152	Abnormality of head or neck	10371	SEMA3A	ORPHA:478
HP:0000152	Abnormality of head or neck	54832	VPS13C	ORPHA:2828
HP:0000152	Abnormality of head or neck	11315	PARK7	ORPHA:2828
HP:0000152	Abnormality of head or neck	7345	UCHL1	ORPHA:2828
HP:0000152	Abnormality of head or neck	27429	HTRA2	ORPHA:2828
HP:0000152	Abnormality of head or neck	9829	DNAJC6	ORPHA:2828
HP:0000152	Abnormality of head or neck	5420	PODXL	ORPHA:2828
HP:0000152	Abnormality of head or neck	65018	PINK1	ORPHA:2828
HP:0000152	Abnormality of head or neck	8867	SYNJ1	ORPHA:2828
HP:0000152	Abnormality of head or neck	5071	PRKN	ORPHA:2828
HP:0000152	Abnormality of head or neck	6342	SCP2	OMIM:613724
HP:0000152	Abnormality of head or neck	26012	NSMF	OMIM:614838
HP:0000152	Abnormality of head or neck	540	ATP7B	OMIM:277900
HP:0000152	Abnormality of head or neck	79625	NDNF	ORPHA:478
HP:0000152	Abnormality of head or neck	389549	FEZF1	ORPHA:478
HP:0000152	Abnormality of head or neck	1630	DCC	ORPHA:478
HP:0000152	Abnormality of head or neck	54756	IL17RD	ORPHA:478
HP:0000152	Abnormality of head or neck	6663	SOX10	ORPHA:478
HP:0000152	Abnormality of head or neck	285025	CCDC141	ORPHA:478
HP:0000152	Abnormality of head or neck	1848	DUSP6	ORPHA:478
HP:0000152	Abnormality of head or neck	6870	TACR3	ORPHA:478
HP:0000152	Abnormality of head or neck	9394	HS6ST1	ORPHA:478
HP:0000152	Abnormality of head or neck	8822	FGF17	ORPHA:478
HP:0000152	Abnormality of head or neck	79600	TCTN1	ORPHA:475
HP:0000152	Abnormality of head or neck	79848	CSPP1	ORPHA:475
HP:0000152	Abnormality of head or neck	51684	SUFU	ORPHA:475
HP:0000152	Abnormality of head or neck	54806	AHI1	ORPHA:475
HP:0000152	Abnormality of head or neck	54806	AHI1	ORPHA:220493
HP:0000152	Abnormality of head or neck	153241	CEP120	ORPHA:475
HP:0000152	Abnormality of head or neck	153241	CEP120	ORPHA:220493
HP:0000152	Abnormality of head or neck	65250	CPLANE1	ORPHA:475
HP:0000152	Abnormality of head or neck	65250	CPLANE1	ORPHA:2754
HP:0000152	Abnormality of head or neck	91147	TMEM67	ORPHA:475
HP:0000152	Abnormality of head or neck	91147	TMEM67	ORPHA:1454
HP:0000152	Abnormality of head or neck	200894	ARL13B	ORPHA:475
HP:0000152	Abnormality of head or neck	9731	CEP104	ORPHA:475
HP:0000152	Abnormality of head or neck	219844	HYLS1	ORPHA:475
HP:0000152	Abnormality of head or neck	23247	KATNIP	ORPHA:475
HP:0000152	Abnormality of head or neck	219854	TMEM218	ORPHA:475
HP:0000152	Abnormality of head or neck	54903	MKS1	ORPHA:475
HP:0000152	Abnormality of head or neck	54903	MKS1	ORPHA:220493
HP:0000152	Abnormality of head or neck	95681	CEP41	ORPHA:475
HP:0000152	Abnormality of head or neck	95681	CEP41	ORPHA:220493
HP:0000152	Abnormality of head or neck	9786	KIAA0586	ORPHA:475
HP:0000152	Abnormality of head or neck	56623	INPP5E	ORPHA:475
HP:0000152	Abnormality of head or neck	56623	INPP5E	ORPHA:1454
HP:0000152	Abnormality of head or neck	56623	INPP5E	ORPHA:220493
HP:0000152	Abnormality of head or neck	79867	TCTN2	ORPHA:475
HP:0000152	Abnormality of head or neck	80776	B9D2	ORPHA:475
HP:0000152	Abnormality of head or neck	10464	PIBF1	ORPHA:475
HP:0000152	Abnormality of head or neck	80210	ARMC9	ORPHA:475
HP:0000152	Abnormality of head or neck	23116	TOGARAM1	ORPHA:475
HP:0000152	Abnormality of head or neck	25776	CBY1	ORPHA:475
HP:0000152	Abnormality of head or neck	27077	B9D1	ORPHA:475
HP:0000152	Abnormality of head or neck	403	ARL3	ORPHA:475
HP:0000152	Abnormality of head or neck	65062	TMEM237	ORPHA:475
HP:0000152	Abnormality of head or neck	65062	TMEM237	ORPHA:2318
HP:0000152	Abnormality of head or neck	65062	TMEM237	ORPHA:220497
HP:0000152	Abnormality of head or neck	6309	SC5D	ORPHA:46059
HP:0000152	Abnormality of head or neck	3265	HRAS	ORPHA:2612
HP:0000152	Abnormality of head or neck	4893	NRAS	ORPHA:2612
HP:0000152	Abnormality of head or neck	9326	ZNHIT3	ORPHA:2836
HP:0000152	Abnormality of head or neck	547	KIF1A	ORPHA:2836
HP:0000152	Abnormality of head or neck	85378	TUBGCP6	ORPHA:2518
HP:0000152	Abnormality of head or neck	27229	TUBGCP4	ORPHA:2518
HP:0000152	Abnormality of head or neck	10733	PLK4	ORPHA:2518
HP:0000152	Abnormality of head or neck	5604	MAP2K1	ORPHA:1340
HP:0000152	Abnormality of head or neck	5605	MAP2K2	ORPHA:1340
HP:0000152	Abnormality of head or neck	673	BRAF	ORPHA:1340
HP:0000152	Abnormality of head or neck	7518	XRCC4	ORPHA:99812
HP:0000152	Abnormality of head or neck	3981	LIG4	ORPHA:99812
HP:0000152	Abnormality of head or neck	10225	CD96	ORPHA:1308
HP:0000152	Abnormality of head or neck	79583	TMEM231	ORPHA:2318
HP:0000152	Abnormality of head or neck	51524	TMEM138	ORPHA:2318
HP:0000152	Abnormality of head or neck	23090	ZNF423	ORPHA:2318
HP:0000152	Abnormality of head or neck	80184	CEP290	ORPHA:2318
HP:0000152	Abnormality of head or neck	51259	TMEM216	ORPHA:2318
HP:0000152	Abnormality of head or neck	51259	TMEM216	ORPHA:2754
HP:0000152	Abnormality of head or neck	57545	CC2D2A	ORPHA:2318
HP:0000152	Abnormality of head or neck	57545	CC2D2A	ORPHA:1454
HP:0000152	Abnormality of head or neck	10210	TOPORS	ORPHA:2754
HP:0000152	Abnormality of head or neck	9851	KIAA0753	ORPHA:2754
HP:0000152	Abnormality of head or neck	26123	TCTN3	ORPHA:2754
HP:0000152	Abnormality of head or neck	5147	PDE6D	ORPHA:2754
HP:0000152	Abnormality of head or neck	8481	OFD1	ORPHA:2754
HP:0000152	Abnormality of head or neck	317662	FAM149B1	ORPHA:2754
HP:0000152	Abnormality of head or neck	2626	GATA4	ORPHA:251071
HP:0000152	Abnormality of head or neck	29123	ANKRD11	ORPHA:261250
HP:0000152	Abnormality of head or neck	23322	RPGRIP1L	ORPHA:220497
HP:0000152	Abnormality of head or neck	23322	RPGRIP1L	ORPHA:1454
HP:0000152	Abnormality of head or neck	4867	NPHP1	ORPHA:220497
HP:0000152	Abnormality of head or neck	8450	CUL4B	ORPHA:85293
HP:0000152	Abnormality of head or neck	1717	DHCR7	ORPHA:818
HP:0000152	Abnormality of head or neck	57192	MCOLN1	ORPHA:578
HP:0000152	Abnormality of head or neck	257	ALX3	OMIM:136760
HP:0000152	Abnormality of head or neck	257	ALX3	ORPHA:391474
HP:0000152	Abnormality of head or neck	8092	ALX1	ORPHA:306542
HP:0000152	Abnormality of head or neck	91949	COG7	OMIM:608779
HP:0000152	Abnormality of head or neck	11285	B4GALT7	OMIM:130070
HP:0000152	Abnormality of head or neck	818	CAMK2G	OMIM:618522
HP:0000152	Abnormality of head or neck	55699	IARS2	OMIM:616007
HP:0000152	Abnormality of head or neck	2132	EXT2	ORPHA:466926
HP:0000152	Abnormality of head or neck	340665	CYP26C1	ORPHA:398189
HP:0000152	Abnormality of head or neck	4052	LTBP1	ORPHA:90349
HP:0000152	Abnormality of head or neck	30008	EFEMP2	ORPHA:90349
HP:0000152	Abnormality of head or neck	4035	LRP1	ORPHA:79100
HP:0000152	Abnormality of head or neck	23522	KAT6B	ORPHA:3047
HP:0000152	Abnormality of head or neck	6804	STX1A	ORPHA:904
HP:0000152	Abnormality of head or neck	7461	CLIP2	ORPHA:904
HP:0000152	Abnormality of head or neck	84277	DNAJC30	ORPHA:904
HP:0000152	Abnormality of head or neck	8468	FKBP6	ORPHA:904
HP:0000152	Abnormality of head or neck	5982	RFC2	ORPHA:904
HP:0000152	Abnormality of head or neck	2969	GTF2I	ORPHA:904
HP:0000152	Abnormality of head or neck	3984	LIMK1	ORPHA:904
HP:0000152	Abnormality of head or neck	9569	GTF2IRD1	ORPHA:904
HP:0000152	Abnormality of head or neck	155382	VPS37D	ORPHA:904
HP:0000152	Abnormality of head or neck	155368	METTL27	ORPHA:904
HP:0000152	Abnormality of head or neck	114049	BUD23	ORPHA:904
HP:0000152	Abnormality of head or neck	7458	EIF4H	ORPHA:904
HP:0000152	Abnormality of head or neck	84163	GTF2IRD2	ORPHA:904
HP:0000152	Abnormality of head or neck	9275	BCL7B	ORPHA:904
HP:0000152	Abnormality of head or neck	26608	TBL2	ORPHA:904
HP:0000152	Abnormality of head or neck	653361	NCF1	ORPHA:904
HP:0000152	Abnormality of head or neck	135886	TMEM270	ORPHA:904
HP:0000152	Abnormality of head or neck	51085	MLXIPL	ORPHA:904
HP:0000152	Abnormality of head or neck	9031	BAZ1B	ORPHA:904
HP:0000152	Abnormality of head or neck	341208	HEPHL1	OMIM:261990
HP:0000152	Abnormality of head or neck	2193	FARSA	OMIM:619013
HP:0000152	Abnormality of head or neck	3643	INSR	OMIM:246200
HP:0000152	Abnormality of head or neck	5290	PIK3CA	OMIM:612918
HP:0000152	Abnormality of head or neck	4125	MAN2B1	ORPHA:309282
HP:0000152	Abnormality of head or neck	50964	SOST	ORPHA:3416
HP:0000152	Abnormality of head or neck	4041	LRP5	ORPHA:3416
HP:0000152	Abnormality of head or neck	4982	TNFRSF11B	ORPHA:2801
HP:0000152	Abnormality of head or neck	8792	TNFRSF11A	ORPHA:2801
HP:0000152	Abnormality of head or neck	9791	PTDSS1	ORPHA:2658
HP:0000152	Abnormality of head or neck	56172	ANKH	OMIM:123000
HP:0000152	Abnormality of head or neck	57187	THOC2	ORPHA:457240
HP:0000152	Abnormality of head or neck	3425	IDUA	OMIM:607014
HP:0000152	Abnormality of head or neck	760	CA2	OMIM:259730
HP:0000152	Abnormality of head or neck	8600	TNFSF11	OMIM:259710
HP:0000152	Abnormality of head or neck	2697	GJA1	ORPHA:2710
HP:0000152	Abnormality of head or neck	28962	OSTM1	OMIM:259720
HP:0000152	Abnormality of head or neck	7840	ALMS1	ORPHA:64
HP:0000152	Abnormality of head or neck	7840	ALMS1	OMIM:203800
HP:0000152	Abnormality of head or neck	2778	GNAS	ORPHA:79443
HP:0000152	Abnormality of head or neck	1947	EFNB1	OMIM:304110
HP:0000152	Abnormality of head or neck	29957	SLC25A24	ORPHA:2095
HP:0000152	Abnormality of head or neck	29957	SLC25A24	OMIM:612289
HP:0000152	Abnormality of head or neck	5034	P4HB	OMIM:112240
HP:0000152	Abnormality of head or neck	2961	GTF2E2	OMIM:616943
HP:0000152	Abnormality of head or neck	2261	FGFR3	ORPHA:53271
HP:0000152	Abnormality of head or neck	2261	FGFR3	OMIM:602849
HP:0000152	Abnormality of head or neck	147372	CCBE1	OMIM:235510
HP:0000152	Abnormality of head or neck	1513	CTSK	ORPHA:763
HP:0000152	Abnormality of head or neck	60529	ALX4	ORPHA:228390
HP:0000152	Abnormality of head or neck	54928	BPNT2	OMIM:614078
HP:0000152	Abnormality of head or neck	2260	FGFR1	OMIM:101600
HP:0000152	Abnormality of head or neck	2260	FGFR1	OMIM:123150
HP:0000152	Abnormality of head or neck	5422	POLA1	ORPHA:163976
HP:0000152	Abnormality of head or neck	5977	DPF2	OMIM:618027
HP:0000152	Abnormality of head or neck	6651	SON	ORPHA:500150
HP:0000152	Abnormality of head or neck	6938	TCF12	OMIM:615314
HP:0000152	Abnormality of head or neck	1801	DPH1	OMIM:616901
HP:0000152	Abnormality of head or neck	1801	DPH1	ORPHA:459061
HP:0000152	Abnormality of head or neck	1788	DNMT3A	OMIM:615879
HP:0000152	Abnormality of head or neck	3845	KRAS	OMIM:609942
HP:0000152	Abnormality of head or neck	526	ATP6V1B2	ORPHA:79500
HP:0000152	Abnormality of head or neck	57465	TBC1D24	ORPHA:79500
HP:0000152	Abnormality of head or neck	55764	IFT122	OMIM:218330
HP:0000152	Abnormality of head or neck	8318	CDC45	OMIM:617063
HP:0000152	Abnormality of head or neck	112752	IFT43	OMIM:614099
HP:0000152	Abnormality of head or neck	57728	WDR19	OMIM:614378
HP:0000152	Abnormality of head or neck	23384	SPECC1L	OMIM:145420
HP:0000152	Abnormality of head or neck	169792	GLIS3	OMIM:610199
HP:0000152	Abnormality of head or neck	3190	HNRNPK	ORPHA:453504
HP:0000152	Abnormality of head or neck	3190	HNRNPK	ORPHA:352665
HP:0000152	Abnormality of head or neck	9401	RECQL4	OMIM:218600
HP:0000152	Abnormality of head or neck	2077	ERF	OMIM:600775
HP:0000152	Abnormality of head or neck	267010	RNU12	OMIM:603116
HP:0000152	Abnormality of head or neck	652	BMP4	OMIM:607932
HP:0000152	Abnormality of head or neck	9871	SEC24D	OMIM:616294
HP:0000152	Abnormality of head or neck	51715	RAB23	OMIM:201000
HP:0000152	Abnormality of head or neck	3590	IL11RA	OMIM:614188
HP:0000152	Abnormality of head or neck	51604	PIGT	OMIM:615398
HP:0000152	Abnormality of head or neck	7545	ZIC1	OMIM:618736
HP:0000152	Abnormality of head or neck	5648	MASP1	OMIM:257920
HP:0000152	Abnormality of head or neck	5447	POR	OMIM:207410
HP:0000152	Abnormality of head or neck	2263	FGFR2	OMIM:207410
HP:0000152	Abnormality of head or neck	2263	FGFR2	OMIM:101400
HP:0000152	Abnormality of head or neck	2263	FGFR2	OMIM:123500
HP:0000152	Abnormality of head or neck	2263	FGFR2	OMIM:101200
HP:0000152	Abnormality of head or neck	7291	TWIST1	OMIM:101400
HP:0000152	Abnormality of head or neck	2773	GNAI3	OMIM:602483
HP:0000152	Abnormality of head or neck	6850	SYK	OMIM:619381
HP:0000152	Abnormality of head or neck	1909	EDNRA	OMIM:616367
HP:0000152	Abnormality of head or neck	9451	EIF2AK3	OMIM:226980
HP:0000152	Abnormality of head or neck	2688	GH1	OMIM:262400
HP:0000152	Abnormality of head or neck	4724	NDUFS4	OMIM:252010
HP:0000152	Abnormality of head or neck	2670	GFAP	OMIM:203450
HP:0000152	Abnormality of head or neck	2670	GFAP	ORPHA:363717
HP:0000152	Abnormality of head or neck	3911	LAMA5	OMIM:620076
HP:0000152	Abnormality of head or neck	7067	THRA	OMIM:614450
HP:0000152	Abnormality of head or neck	57194	ATP10A	ORPHA:411515
HP:0000152	Abnormality of head or neck	4618	MYF6	ORPHA:169189
HP:0000152	Abnormality of head or neck	6916	TBXAS1	ORPHA:1802
HP:0000152	Abnormality of head or neck	124590	USH1G	OMIM:606943
HP:0000152	Abnormality of head or neck	10992	SF3B2	OMIM:164210
HP:0000152	Abnormality of head or neck	60482	SLC5A7	ORPHA:98914
HP:0000152	Abnormality of head or neck	4649	MYO9A	ORPHA:98914
HP:0000152	Abnormality of head or neck	1305	COL13A1	ORPHA:98914
HP:0000152	Abnormality of head or neck	1103	CHAT	ORPHA:98914
HP:0000152	Abnormality of head or neck	6576	SLC25A1	ORPHA:98914
HP:0000152	Abnormality of head or neck	6843	VAMP1	ORPHA:98914
HP:0000152	Abnormality of head or neck	375790	AGRN	ORPHA:98914
HP:0000152	Abnormality of head or neck	127833	SYT2	ORPHA:98914
HP:0000152	Abnormality of head or neck	6572	SLC18A3	ORPHA:98914
HP:0000152	Abnormality of head or neck	6616	SNAP25	ORPHA:98914
HP:0000152	Abnormality of head or neck	1836	SLC26A2	ORPHA:56304
HP:0000152	Abnormality of head or neck	1763	DNA2	ORPHA:352470
HP:0000152	Abnormality of head or neck	1763	DNA2	OMIM:615156
HP:0000152	Abnormality of head or neck	63895	PIEZO2	OMIM:108145
HP:0000152	Abnormality of head or neck	5745	PTH1R	OMIM:156400
HP:0000152	Abnormality of head or neck	5837	PYGM	ORPHA:368
HP:0000152	Abnormality of head or neck	4604	MYBPC1	OMIM:618524
HP:0000152	Abnormality of head or neck	201163	FLCN	OMIM:610883
HP:0000152	Abnormality of head or neck	50651	SLC45A1	OMIM:617532
HP:0000152	Abnormality of head or neck	116931	MED12L	OMIM:618872
HP:0000152	Abnormality of head or neck	50485	SMARCAL1	ORPHA:1830
HP:0000152	Abnormality of head or neck	50485	SMARCAL1	OMIM:242900
HP:0000152	Abnormality of head or neck	3373	HYAL1	OMIM:601492
HP:0000152	Abnormality of head or neck	3736	KCNA1	ORPHA:1934
HP:0000152	Abnormality of head or neck	2775	GNAO1	ORPHA:1934
HP:0000152	Abnormality of head or neck	81603	TRIM8	ORPHA:1934
HP:0000152	Abnormality of head or neck	79751	SLC25A22	ORPHA:1934
HP:0000152	Abnormality of head or neck	150094	SIK1	ORPHA:1934
HP:0000152	Abnormality of head or neck	2917	GRM7	ORPHA:1934
HP:0000152	Abnormality of head or neck	11284	PNKP	ORPHA:1934
HP:0000152	Abnormality of head or neck	6326	SCN2A	ORPHA:1934
HP:0000152	Abnormality of head or neck	51227	PIGP	ORPHA:1934
HP:0000152	Abnormality of head or neck	6324	SCN1B	ORPHA:1934
HP:0000152	Abnormality of head or neck	4761	NEUROD2	ORPHA:1934
HP:0000152	Abnormality of head or neck	84634	KISS1R	ORPHA:432
HP:0000152	Abnormality of head or neck	6866	TAC3	ORPHA:432
HP:0000152	Abnormality of head or neck	3814	KISS1	ORPHA:432
HP:0000152	Abnormality of head or neck	6045	RNF2	OMIM:619460
HP:0000152	Abnormality of head or neck	84081	NSRP1	OMIM:620001
HP:0000152	Abnormality of head or neck	2801	GOLGA2	OMIM:620240
HP:0000152	Abnormality of head or neck	6499	SKIC2	OMIM:614602
HP:0000152	Abnormality of head or neck	124512	METTL23	OMIM:615942
HP:0000152	Abnormality of head or neck	10236	HNRNPR	OMIM:620073
HP:0000152	Abnormality of head or neck	6509	SLC1A4	ORPHA:447997
HP:0000152	Abnormality of head or neck	79644	SRD5A3	OMIM:612379
HP:0000152	Abnormality of head or neck	57211	ADGRG6	OMIM:616503
HP:0000152	Abnormality of head or neck	4190	MDH1	OMIM:618959
HP:0000152	Abnormality of head or neck	3198	HOXA1	OMIM:601536
HP:0000152	Abnormality of head or neck	1371	CPOX	ORPHA:79273
HP:0000152	Abnormality of head or neck	10015	PDCD6IP	OMIM:620047
HP:0000152	Abnormality of head or neck	3119	HLA-DQB1	OMIM:123400
HP:0000152	Abnormality of head or neck	5376	PMP22	ORPHA:98916
HP:0000152	Abnormality of head or neck	1785	DNM2	OMIM:160150
HP:0000152	Abnormality of head or neck	64419	MTMR14	OMIM:160150
HP:0000152	Abnormality of head or neck	126695	KDF1	OMIM:617337
HP:0000152	Abnormality of head or neck	5361	PLXNA1	OMIM:619955
HP:0000152	Abnormality of head or neck	112802	KRT71	ORPHA:170
HP:0000152	Abnormality of head or neck	92255	LMBRD2	OMIM:619694
HP:0000152	Abnormality of head or neck	6926	TBX3	OMIM:181450
HP:0000152	Abnormality of head or neck	10524	KAT5	OMIM:619103
HP:0000152	Abnormality of head or neck	60495	HPSE2	OMIM:236730
HP:0000152	Abnormality of head or neck	7280	TUBB2A	OMIM:615763
HP:0000152	Abnormality of head or neck	9365	KL	OMIM:617994
HP:0000152	Abnormality of head or neck	83700	JAM3	OMIM:613730
HP:0000152	Abnormality of head or neck	6571	SLC18A2	ORPHA:352649
HP:0000152	Abnormality of head or neck	22854	NTNG1	ORPHA:3095
HP:0000152	Abnormality of head or neck	55610	VPS50	OMIM:619685
HP:0000152	Abnormality of head or neck	9512	PMPCB	OMIM:617954
HP:0000152	Abnormality of head or neck	8560	DEGS1	OMIM:618404
HP:0000152	Abnormality of head or neck	54675	CRLS1	OMIM:620167
HP:0000152	Abnormality of head or neck	1641	DCX	ORPHA:2148
HP:0000152	Abnormality of head or neck	51501	HIKESHI	OMIM:616881
HP:0000152	Abnormality of head or neck	56947	MFF	ORPHA:485421
HP:0000152	Abnormality of head or neck	56947	MFF	OMIM:617086
HP:0000152	Abnormality of head or neck	539	ATP5PO	OMIM:620359
HP:0000152	Abnormality of head or neck	9440	MED17	OMIM:613668
HP:0000152	Abnormality of head or neck	125988	MICOS13	OMIM:618329
HP:0000152	Abnormality of head or neck	1719	DHFR	OMIM:613839
HP:0000152	Abnormality of head or neck	205327	C2orf69	OMIM:619423
HP:0000152	Abnormality of head or neck	51693	TRAPPC2L	OMIM:618331
HP:0000152	Abnormality of head or neck	57017	COQ9	OMIM:614654
HP:0000152	Abnormality of head or neck	3329	HSPD1	OMIM:612233
HP:0000152	Abnormality of head or neck	2744	GLS	OMIM:618339
HP:0000152	Abnormality of head or neck	2645	GCK	ORPHA:99885
HP:0000152	Abnormality of head or neck	3651	PDX1	ORPHA:99885
HP:0000152	Abnormality of head or neck	3630	INS	ORPHA:99885
HP:0000152	Abnormality of head or neck	10312	TCIRG1	ORPHA:210110
HP:0000152	Abnormality of head or neck	1186	CLCN7	ORPHA:210110
HP:0000152	Abnormality of head or neck	9842	PLEKHM1	ORPHA:210110
HP:0000152	Abnormality of head or neck	23516	SLC39A14	OMIM:144755
HP:0000152	Abnormality of head or neck	22943	DKK1	ORPHA:268882
HP:0000152	Abnormality of head or neck	4853	NOTCH2	OMIM:102500
HP:0000152	Abnormality of head or neck	90	ACVR1	OMIM:135100
HP:0000152	Abnormality of head or neck	1303	COL12A1	ORPHA:536516
HP:0000152	Abnormality of head or neck	9573	GDF3	ORPHA:2345
HP:0000152	Abnormality of head or neck	392255	GDF6	ORPHA:2345
HP:0000152	Abnormality of head or neck	392255	GDF6	OMIM:118100
HP:0000152	Abnormality of head or neck	4222	MEOX1	ORPHA:2345
HP:0000152	Abnormality of head or neck	8831	SYNGAP1	OMIM:612621
HP:0000152	Abnormality of head or neck	5528	PPP2R5D	OMIM:616355
HP:0000152	Abnormality of head or neck	5528	PPP2R5D	ORPHA:457279
HP:0000152	Abnormality of head or neck	1291	COL6A1	OMIM:158810
HP:0000152	Abnormality of head or neck	1293	COL6A3	OMIM:158810
HP:0000152	Abnormality of head or neck	23545	ATP6V0A2	ORPHA:357074
HP:0000152	Abnormality of head or neck	523	ATP6V1A	ORPHA:357074
HP:0000152	Abnormality of head or neck	529	ATP6V1E1	ORPHA:357074
HP:0000152	Abnormality of head or neck	84231	TRAF7	OMIM:618164
HP:0000152	Abnormality of head or neck	54496	PRMT7	OMIM:617157
HP:0000152	Abnormality of head or neck	2006	ELN	ORPHA:90348
HP:0000152	Abnormality of head or neck	10516	FBLN5	ORPHA:90348
HP:0000152	Abnormality of head or neck	5832	ALDH18A1	ORPHA:90348
HP:0000152	Abnormality of head or neck	55165	CEP55	OMIM:236500
HP:0000152	Abnormality of head or neck	6913	TBX15	ORPHA:93333
HP:0000152	Abnormality of head or neck	55593	OTUD5	OMIM:301056
HP:0000152	Abnormality of head or neck	56945	MRPS22	OMIM:611719
HP:0000152	Abnormality of head or neck	10682	EBP	OMIM:300960
HP:0000152	Abnormality of head or neck	4716	NDUFB10	OMIM:619003
HP:0000152	Abnormality of head or neck	285590	SH3PXD2B	OMIM:249420
HP:0000152	Abnormality of head or neck	22884	WDR37	OMIM:618652
HP:0000152	Abnormality of head or neck	8621	CDK13	OMIM:617360
HP:0000152	Abnormality of head or neck	51021	MRPS16	OMIM:610498
HP:0000152	Abnormality of head or neck	124997	WDR81	OMIM:617967
HP:0000152	Abnormality of head or neck	2683	B4GALT1	ORPHA:79332
HP:0000152	Abnormality of head or neck	5189	PEX1	OMIM:214100
HP:0000152	Abnormality of head or neck	57190	SELENON	OMIM:602771
HP:0000152	Abnormality of head or neck	57190	SELENON	ORPHA:324604
HP:0000152	Abnormality of head or neck	4625	MYH7	ORPHA:324604
HP:0000152	Abnormality of head or neck	4625	MYH7	ORPHA:437572
HP:0000152	Abnormality of head or neck	7273	TTN	ORPHA:324604
HP:0000152	Abnormality of head or neck	2273	FHL1	OMIM:300696
HP:0000152	Abnormality of head or neck	4000	LMNA	OMIM:181350
HP:0000152	Abnormality of head or neck	11160	ERLIN2	ORPHA:209951
HP:0000152	Abnormality of head or neck	4621	MYH3	OMIM:193700
HP:0000152	Abnormality of head or neck	1292	COL6A2	OMIM:255600
HP:0000152	Abnormality of head or neck	401138	AMTN	OMIM:617607
HP:0000152	Abnormality of head or neck	152816	ODAPH	OMIM:614832
HP:0000152	Abnormality of head or neck	80320	SP6	OMIM:620104
HP:0000152	Abnormality of head or neck	284654	RSPO1	OMIM:610644
HP:0000152	Abnormality of head or neck	7700	ZNF141	OMIM:615226
HP:0000152	Abnormality of head or neck	27247	NFU1	OMIM:605711
HP:0000152	Abnormality of head or neck	727676	SNORD118	ORPHA:542310
HP:0000152	Abnormality of head or neck	977	CD151	OMIM:609057
HP:0000152	Abnormality of head or neck	8626	TP63	ORPHA:69085
HP:0000152	Abnormality of head or neck	85465	SELENOI	ORPHA:506353
HP:0000152	Abnormality of head or neck	4514	MT-CO3	OMIM:535000
HP:0000152	Abnormality of head or neck	4519	MT-CYB	OMIM:535000
HP:0000152	Abnormality of head or neck	4541	MT-ND6	OMIM:535000
HP:0000152	Abnormality of head or neck	4540	MT-ND5	OMIM:535000
HP:0000152	Abnormality of head or neck	4539	MT-ND4L	OMIM:535000
HP:0000152	Abnormality of head or neck	4535	MT-ND1	OMIM:535000
HP:0000152	Abnormality of head or neck	4536	MT-ND2	OMIM:535000
HP:0000152	Abnormality of head or neck	4538	MT-ND4	OMIM:535000
HP:0000152	Abnormality of head or neck	2255	FGF10	OMIM:620193
HP:0000152	Abnormality of head or neck	2255	FGF10	ORPHA:2363
HP:0000152	Abnormality of head or neck	341640	FREM2	ORPHA:2052
HP:0000152	Abnormality of head or neck	80144	FRAS1	ORPHA:2052
HP:0000152	Abnormality of head or neck	80144	FRAS1	OMIM:219000
HP:0000152	Abnormality of head or neck	23426	GRIP1	ORPHA:2052
HP:0000152	Abnormality of head or neck	8295	TRRAP	OMIM:618454
HP:0000152	Abnormality of head or neck	2138	EYA1	OMIM:113650
HP:0000152	Abnormality of head or neck	6495	SIX1	OMIM:113650
HP:0000152	Abnormality of head or neck	387	RHOA	OMIM:618727
HP:0000152	Abnormality of head or neck	79718	TBL1XR1	OMIM:602342
HP:0000152	Abnormality of head or neck	84570	COL25A1	ORPHA:91411
HP:0000152	Abnormality of head or neck	79776	ZFHX4	ORPHA:91411
HP:0000152	Abnormality of head or neck	7439	BEST1	OMIM:193220
HP:0000152	Abnormality of head or neck	1890	TYMP	ORPHA:298
HP:0000152	Abnormality of head or neck	3980	LIG3	ORPHA:298
HP:0000152	Abnormality of head or neck	2972	BRF1	ORPHA:444072
HP:0000152	Abnormality of head or neck	8241	RBM10	ORPHA:2886
HP:0000152	Abnormality of head or neck	9775	EIF4A3	OMIM:268305
HP:0000152	Abnormality of head or neck	5307	PITX1	OMIM:119800
HP:0000152	Abnormality of head or neck	81788	NUAK2	OMIM:619452
HP:0000152	Abnormality of head or neck	22858	CILK1	OMIM:612651
HP:0000152	Abnormality of head or neck	8111	GPR68	OMIM:617217
HP:0000152	Abnormality of head or neck	7428	VHL	ORPHA:892
HP:0000152	Abnormality of head or neck	7428	VHL	ORPHA:29072
HP:0000152	Abnormality of head or neck	7428	VHL	OMIM:193300
HP:0000152	Abnormality of head or neck	595	CCND1	ORPHA:892
HP:0000152	Abnormality of head or neck	595	CCND1	OMIM:193300
HP:0000152	Abnormality of head or neck	1743	DLST	ORPHA:29072
HP:0000152	Abnormality of head or neck	4191	MDH2	ORPHA:29072
HP:0000152	Abnormality of head or neck	6389	SDHA	ORPHA:29072
HP:0000152	Abnormality of head or neck	23095	KIF1B	ORPHA:29072
HP:0000152	Abnormality of head or neck	8402	SLC25A11	ORPHA:29072
HP:0000152	Abnormality of head or neck	54949	SDHAF2	ORPHA:29072
HP:0000152	Abnormality of head or neck	55654	TMEM127	ORPHA:29072
HP:0000152	Abnormality of head or neck	4149	MAX	ORPHA:29072
HP:0000152	Abnormality of head or neck	4292	MLH1	OMIM:158320
HP:0000152	Abnormality of head or neck	4292	MLH1	ORPHA:587
HP:0000152	Abnormality of head or neck	4436	MSH2	OMIM:158320
HP:0000152	Abnormality of head or neck	4436	MSH2	ORPHA:587
HP:0000152	Abnormality of head or neck	7249	TSC2	OMIM:613254
HP:0000152	Abnormality of head or neck	3458	IFNG	OMIM:613254
HP:0000152	Abnormality of head or neck	7248	TSC1	OMIM:191100
HP:0000152	Abnormality of head or neck	258	AMBN	OMIM:616270
HP:0000152	Abnormality of head or neck	3914	LAMB3	OMIM:104530
HP:0000152	Abnormality of head or neck	1308	COL17A1	OMIM:619787
HP:0000152	Abnormality of head or neck	1308	COL17A1	ORPHA:251393
HP:0000152	Abnormality of head or neck	2956	MSH6	OMIM:619097
HP:0000152	Abnormality of head or neck	2303	FOXC2	OMIM:153400
HP:0000152	Abnormality of head or neck	2303	FOXC2	ORPHA:33001
HP:0000152	Abnormality of head or neck	30062	RAX	OMIM:611038
HP:0000152	Abnormality of head or neck	29926	GMPPA	OMIM:615510
HP:0000152	Abnormality of head or neck	54361	WNT4	ORPHA:247768
HP:0000152	Abnormality of head or neck	4654	MYOD1	OMIM:618975
HP:0000152	Abnormality of head or neck	7473	WNT3	OMIM:273395
HP:0000152	Abnormality of head or neck	165	AEBP1	ORPHA:536532
HP:0000152	Abnormality of head or neck	5396	PRRX1	OMIM:202650
HP:0000152	Abnormality of head or neck	5396	PRRX1	ORPHA:990
HP:0000152	Abnormality of head or neck	5015	OTX2	ORPHA:990
HP:0000152	Abnormality of head or neck	5371	PML	ORPHA:520
HP:0000152	Abnormality of head or neck	5914	RARA	ORPHA:520
HP:0000152	Abnormality of head or neck	359948	IRF2BP2	ORPHA:520
HP:0000152	Abnormality of head or neck	81608	FIP1L1	ORPHA:520
HP:0000152	Abnormality of head or neck	64859	NABP1	ORPHA:520
HP:0000152	Abnormality of head or neck	4926	NUMA1	ORPHA:520
HP:0000152	Abnormality of head or neck	7704	ZBTB16	ORPHA:520
HP:0000152	Abnormality of head or neck	2642	GCGR	ORPHA:438274
HP:0000152	Abnormality of head or neck	3702	ITK	OMIM:613011
HP:0000152	Abnormality of head or neck	84876	ORAI1	OMIM:612782
HP:0000152	Abnormality of head or neck	399	RHOH	OMIM:618307
HP:0000152	Abnormality of head or neck	10379	IRF9	OMIM:618648
HP:0000152	Abnormality of head or neck	3557	IL1RN	OMIM:612852
HP:0000152	Abnormality of head or neck	3117	HLA-DQA1	OMIM:212750
HP:0000152	Abnormality of head or neck	959	CD40LG	OMIM:308230
HP:0000152	Abnormality of head or neck	215	ABCD1	ORPHA:139399
HP:0000152	Abnormality of head or neck	4967	OGDH	ORPHA:31
HP:0000152	Abnormality of head or neck	567	B2M	ORPHA:314652
HP:0000152	Abnormality of head or neck	9894	TELO2	ORPHA:488642
HP:0000152	Abnormality of head or neck	265	AMELX	OMIM:301200
HP:0000152	Abnormality of head or neck	93650	ACP4	OMIM:617297
HP:0000152	Abnormality of head or neck	81887	LAS1L	ORPHA:3459
HP:0000152	Abnormality of head or neck	9150	CTDP1	OMIM:604168
HP:0000152	Abnormality of head or neck	9150	CTDP1	ORPHA:48431
HP:0000152	Abnormality of head or neck	286053	NSMCE2	ORPHA:436182
HP:0000152	Abnormality of head or neck	825	CAPN3	OMIM:253600
HP:0000152	Abnormality of head or neck	79581	SLC52A2	OMIM:614707
HP:0000152	Abnormality of head or neck	10049	DNAJB6	OMIM:603511
HP:0000152	Abnormality of head or neck	1120	CHKB	OMIM:602541
HP:0000152	Abnormality of head or neck	84466	MEGF10	OMIM:614399
HP:0000152	Abnormality of head or neck	1798	DPAGT1	ORPHA:353327
HP:0000152	Abnormality of head or neck	8878	SQSTM1	OMIM:617158
HP:0000152	Abnormality of head or neck	9531	BAG3	OMIM:612954
HP:0000152	Abnormality of head or neck	84617	TUBB6	OMIM:617732
HP:0000152	Abnormality of head or neck	80704	SLC19A3	OMIM:607483
HP:0000152	Abnormality of head or neck	8898	MTMR2	OMIM:601382
HP:0000152	Abnormality of head or neck	2934	GSN	ORPHA:85448
HP:0000152	Abnormality of head or neck	8292	COLQ	ORPHA:98915
HP:0000152	Abnormality of head or neck	3913	LAMB2	ORPHA:98915
HP:0000152	Abnormality of head or neck	6444	SGCD	ORPHA:219
HP:0000152	Abnormality of head or neck	339855	KY	OMIM:617114
HP:0000152	Abnormality of head or neck	64127	NOD2	ORPHA:90340
HP:0000152	Abnormality of head or neck	203859	ANO5	OMIM:611307
HP:0000152	Abnormality of head or neck	203859	ANO5	ORPHA:206549
HP:0000152	Abnormality of head or neck	59341	TRPV4	OMIM:181405
HP:0000152	Abnormality of head or neck	11146	GLMN	ORPHA:83454
HP:0000152	Abnormality of head or neck	427	ASAH1	ORPHA:333
HP:0000152	Abnormality of head or neck	427	ASAH1	OMIM:228000
HP:0000152	Abnormality of head or neck	2581	GALC	ORPHA:206436
HP:0000152	Abnormality of head or neck	5660	PSAP	ORPHA:206436
HP:0000152	Abnormality of head or neck	3073	HEXA	OMIM:272800
HP:0000152	Abnormality of head or neck	1615	DARS1	OMIM:615281
HP:0000152	Abnormality of head or neck	2760	GM2A	ORPHA:309246
HP:0000152	Abnormality of head or neck	54840	APTX	ORPHA:1168
HP:0000152	Abnormality of head or neck	3560	IL2RB	ORPHA:85408
HP:0000152	Abnormality of head or neck	79722	ANKRD55	ORPHA:85408
HP:0000152	Abnormality of head or neck	919	CD247	ORPHA:85408
HP:0000152	Abnormality of head or neck	5771	PTPN2	ORPHA:85408
HP:0000152	Abnormality of head or neck	1725	DHPS	OMIM:618480
HP:0000152	Abnormality of head or neck	10274	STAG1	OMIM:617635
HP:0000152	Abnormality of head or neck	83475	DOHH	OMIM:620066
HP:0000152	Abnormality of head or neck	1499	CTNNB1	ORPHA:54595
HP:0000152	Abnormality of head or neck	84957	RELT	OMIM:618386
HP:0000152	Abnormality of head or neck	256764	WDR72	OMIM:613211
HP:0000152	Abnormality of head or neck	356	FASLG	ORPHA:3261
HP:0000152	Abnormality of head or neck	843	CASP10	ORPHA:3261
HP:0000152	Abnormality of head or neck	10125	RASGRP1	ORPHA:3261
HP:0000152	Abnormality of head or neck	1053	CEBPE	OMIM:260570
HP:0000152	Abnormality of head or neck	6097	RORC	OMIM:616622
HP:0000152	Abnormality of head or neck	84818	IL17RC	OMIM:616445
HP:0000152	Abnormality of head or neck	51311	TLR8	OMIM:301078
HP:0000152	Abnormality of head or neck	9948	WDR1	OMIM:150550
HP:0000152	Abnormality of head or neck	3569	IL6	OMIM:266600
HP:0000152	Abnormality of head or neck	91662	NLRP12	OMIM:611762
HP:0000152	Abnormality of head or neck	149233	IL23R	ORPHA:117
HP:0000152	Abnormality of head or neck	6775	STAT4	ORPHA:117
HP:0000152	Abnormality of head or neck	3586	IL10	ORPHA:117
HP:0000152	Abnormality of head or neck	1230	CCR1	ORPHA:117
HP:0000152	Abnormality of head or neck	3592	IL12A	ORPHA:117
HP:0000152	Abnormality of head or neck	101928376	IL12A-AS1	ORPHA:117
HP:0000152	Abnormality of head or neck	7099	TLR4	ORPHA:117
HP:0000152	Abnormality of head or neck	3459	IFNGR1	ORPHA:117
HP:0000152	Abnormality of head or neck	720	C4A	ORPHA:117
HP:0000152	Abnormality of head or neck	337867	UBAC2	ORPHA:117
HP:0000152	Abnormality of head or neck	51752	ERAP1	ORPHA:117
HP:0000152	Abnormality of head or neck	8302	KLRC4	ORPHA:117
HP:0000152	Abnormality of head or neck	30011	SH3KBP1	OMIM:300310
HP:0000152	Abnormality of head or neck	5880	RAC2	OMIM:618986
HP:0000152	Abnormality of head or neck	987	LRBA	OMIM:614700
HP:0000152	Abnormality of head or neck	3426	CFI	OMIM:610984
HP:0000152	Abnormality of head or neck	6813	STXBP2	OMIM:613101
HP:0000152	Abnormality of head or neck	8382	NME5	OMIM:620032
HP:0000152	Abnormality of head or neck	84061	MAGT1	OMIM:300853
HP:0000152	Abnormality of head or neck	10625	IVNS1ABP	OMIM:618969
HP:0000152	Abnormality of head or neck	4194	MDM4	OMIM:618849
HP:0000152	Abnormality of head or neck	3551	IKBKB	OMIM:618204
HP:0000152	Abnormality of head or neck	23765	IL17RA	OMIM:613953
HP:0000152	Abnormality of head or neck	81704	DOCK8	OMIM:243700
HP:0000152	Abnormality of head or neck	81704	DOCK8	ORPHA:217390
HP:0000152	Abnormality of head or neck	721	C4B	OMIM:614379
HP:0000152	Abnormality of head or neck	6688	SPI1	OMIM:619707
HP:0000152	Abnormality of head or neck	146845	CFAP52	OMIM:619607
HP:0000152	Abnormality of head or neck	25790	CFAP45	OMIM:619608
HP:0000152	Abnormality of head or neck	3559	IL2RA	OMIM:606367
HP:0000152	Abnormality of head or neck	64780	MICAL1	OMIM:600512
HP:0000152	Abnormality of head or neck	9211	LGI1	OMIM:600512
HP:0000152	Abnormality of head or neck	8720	MBTPS1	OMIM:618392
HP:0000152	Abnormality of head or neck	1024	CDK8	OMIM:618748
HP:0000152	Abnormality of head or neck	8604	SLC25A12	OMIM:612949
HP:0000152	Abnormality of head or neck	27185	DISC1	ORPHA:171703
HP:0000152	Abnormality of head or neck	8320	EOMES	ORPHA:171703
HP:0000152	Abnormality of head or neck	4905	NSF	OMIM:619340
HP:0000152	Abnormality of head or neck	87178	PNPT1	OMIM:608703
HP:0000152	Abnormality of head or neck	87178	PNPT1	ORPHA:101111
HP:0000152	Abnormality of head or neck	3785	KCNQ2	ORPHA:1949
HP:0000152	Abnormality of head or neck	7276	TTR	OMIM:105210
HP:0000152	Abnormality of head or neck	1355	COX15	OMIM:615119
HP:0000152	Abnormality of head or neck	283120	H19	ORPHA:231144
HP:0000152	Abnormality of head or neck	8443	GNPAT	OMIM:222765
HP:0000152	Abnormality of head or neck	816	CAMK2B	OMIM:617799
HP:0000152	Abnormality of head or neck	283989	TSEN54	ORPHA:166063
HP:0000152	Abnormality of head or neck	2615	LRRC32	OMIM:619074
HP:0000152	Abnormality of head or neck	5311	PKD2	OMIM:613095
HP:0000152	Abnormality of head or neck	85301	COL27A1	OMIM:615155
HP:0000152	Abnormality of head or neck	4285	MIPEP	OMIM:617228
HP:0000152	Abnormality of head or neck	5354	PLP1	ORPHA:280229
HP:0000152	Abnormality of head or neck	51651	PTRH2	OMIM:616263
HP:0000152	Abnormality of head or neck	3658	IREB2	OMIM:618451
HP:0000152	Abnormality of head or neck	5308	PITX2	ORPHA:782
HP:0000152	Abnormality of head or neck	998	CDC42	OMIM:616737
HP:0000152	Abnormality of head or neck	998	CDC42	ORPHA:487796
HP:0000152	Abnormality of head or neck	23097	CDK19	OMIM:618916
HP:0000152	Abnormality of head or neck	63931	MRPS14	OMIM:618378
HP:0000152	Abnormality of head or neck	6304	SATB1	OMIM:619229
HP:0000152	Abnormality of head or neck	55180	LINS1	OMIM:614340
HP:0000152	Abnormality of head or neck	8936	WASF1	OMIM:618707
HP:0000152	Abnormality of head or neck	2893	GRIA4	OMIM:617864
HP:0000152	Abnormality of head or neck	22800	RRAS2	ORPHA:648
HP:0000152	Abnormality of head or neck	6237	RRAS	ORPHA:648
HP:0000152	Abnormality of head or neck	6655	SOS2	ORPHA:648
HP:0000152	Abnormality of head or neck	5922	RASA2	ORPHA:648
HP:0000152	Abnormality of head or neck	10844	TUBGCP2	OMIM:618737
HP:0000152	Abnormality of head or neck	56244	BTNL2	ORPHA:797
HP:0000152	Abnormality of head or neck	3123	HLA-DRB1	ORPHA:797
HP:0000152	Abnormality of head or neck	488	ATP2A2	OMIM:124200
HP:0000152	Abnormality of head or neck	26005	C2CD3	ORPHA:434179
HP:0000152	Abnormality of head or neck	26005	C2CD3	OMIM:615948
HP:0000152	Abnormality of head or neck	51057	WDPCP	OMIM:217085
HP:0000152	Abnormality of head or neck	51057	WDPCP	ORPHA:1338
HP:0000152	Abnormality of head or neck	30813	VSX1	OMIM:614195
HP:0000152	Abnormality of head or neck	7314	UBB	ORPHA:99771
HP:0000152	Abnormality of head or neck	57822	GRHL3	ORPHA:99771
HP:0000152	Abnormality of head or neck	246329	STAC3	ORPHA:168572
HP:0000152	Abnormality of head or neck	4750	NEK1	ORPHA:2751
HP:0000152	Abnormality of head or neck	6288	SAA1	ORPHA:85445
HP:0000152	Abnormality of head or neck	5083	PAX9	OMIM:604625
HP:0000152	Abnormality of head or neck	55605	KIF21A	OMIM:135700
HP:0000152	Abnormality of head or neck	9896	FIG4	ORPHA:3472
HP:0000152	Abnormality of head or neck	55697	VAC14	ORPHA:3472
HP:0000152	Abnormality of head or neck	25914	RTTN	ORPHA:468631
HP:0000152	Abnormality of head or neck	4148	MATN3	ORPHA:156728
HP:0000152	Abnormality of head or neck	4148	MATN3	OMIM:608728
HP:0000152	Abnormality of head or neck	8473	OGT	OMIM:300997
HP:0000152	Abnormality of head or neck	53616	ADAM22	OMIM:617933
HP:0000152	Abnormality of head or neck	7965	AIMP2	OMIM:618006
HP:0000152	Abnormality of head or neck	22872	SEC31A	OMIM:618651
HP:0000152	Abnormality of head or neck	4174	MCM5	OMIM:617564
HP:0000152	Abnormality of head or neck	2890	GRIA1	OMIM:619927
HP:0000152	Abnormality of head or neck	8911	CACNA1I	OMIM:620114
HP:0000152	Abnormality of head or neck	55367	PIDD1	OMIM:619827
HP:0000152	Abnormality of head or neck	7189	TRAF6	ORPHA:1810
HP:0000152	Abnormality of head or neck	51099	ABHD5	ORPHA:98907
HP:0000152	Abnormality of head or neck	59344	ALOXE3	OMIM:606545
HP:0000152	Abnormality of head or neck	204219	CERS3	OMIM:615023
HP:0000152	Abnormality of head or neck	26154	ABCA12	ORPHA:457
HP:0000152	Abnormality of head or neck	4040	LRP6	ORPHA:99798
HP:0000152	Abnormality of head or neck	7039	TGFA	ORPHA:99798
HP:0000152	Abnormality of head or neck	7051	TGM1	ORPHA:100976
HP:0000152	Abnormality of head or neck	9427	ECEL1	OMIM:615065
HP:0000152	Abnormality of head or neck	3508	IGHMBP2	OMIM:616155
HP:0000152	Abnormality of head or neck	10528	NOP56	OMIM:614153
HP:0000152	Abnormality of head or neck	10528	NOP56	ORPHA:276198
HP:0000152	Abnormality of head or neck	22880	MORC2	ORPHA:466768
HP:0000152	Abnormality of head or neck	10133	OPTN	OMIM:613435
HP:0000152	Abnormality of head or neck	51010	EXOSC3	OMIM:614678
HP:0000152	Abnormality of head or neck	23230	VPS13A	ORPHA:2388
HP:0000152	Abnormality of head or neck	23404	EXOSC2	OMIM:617763
HP:0000152	Abnormality of head or neck	23040	MYT1L	OMIM:616521
HP:0000152	Abnormality of head or neck	29081	METTL5	OMIM:618665
HP:0000152	Abnormality of head or neck	999	CDH1	OMIM:119580
HP:0000152	Abnormality of head or neck	999	CDH1	ORPHA:1997
HP:0000152	Abnormality of head or neck	1500	CTNND1	OMIM:617681
HP:0000152	Abnormality of head or neck	1500	CTNND1	ORPHA:1997
HP:0000152	Abnormality of head or neck	1528	CYB5A	ORPHA:621
HP:0000152	Abnormality of head or neck	1727	CYB5R3	ORPHA:621
HP:0000152	Abnormality of head or neck	2202	EFEMP1	ORPHA:98977
HP:0000152	Abnormality of head or neck	1545	CYP1B1	ORPHA:98977
HP:0000152	Abnormality of head or neck	4653	MYOC	ORPHA:98977
HP:0000152	Abnormality of head or neck	3490	IGFBP7	OMIM:614224
HP:0000152	Abnormality of head or neck	55770	EXOC2	OMIM:619306
HP:0000152	Abnormality of head or neck	6711	SPTBN1	OMIM:619475
HP:0000152	Abnormality of head or neck	668	FOXL2	ORPHA:572333
HP:0000152	Abnormality of head or neck	1180	CLCN1	OMIM:160800
HP:0000152	Abnormality of head or neck	1180	CLCN1	OMIM:255700
HP:0000152	Abnormality of head or neck	55679	LIMS2	OMIM:616827
HP:0000152	Abnormality of head or neck	8029	CUBN	ORPHA:35858
HP:0000152	Abnormality of head or neck	81693	AMN	ORPHA:35858
HP:0000152	Abnormality of head or neck	1825	DSC3	OMIM:613102
HP:0000152	Abnormality of head or neck	3872	KRT17	OMIM:167210
HP:0000152	Abnormality of head or neck	3872	KRT17	ORPHA:2309
HP:0000152	Abnormality of head or neck	831	CAST	OMIM:616295
HP:0000152	Abnormality of head or neck	3868	KRT16	ORPHA:2309
HP:0000152	Abnormality of head or neck	3853	KRT6A	ORPHA:2309
HP:0000152	Abnormality of head or neck	3854	KRT6B	ORPHA:2309
HP:0000152	Abnormality of head or neck	6720	SREBF1	OMIM:619016
HP:0000152	Abnormality of head or neck	353116	RILPL1	OMIM:619790
HP:0000152	Abnormality of head or neck	55791	LRIF1	OMIM:619477
HP:0000152	Abnormality of head or neck	10755	GIPC1	OMIM:618940
HP:0000152	Abnormality of head or neck	10755	GIPC1	ORPHA:98897
HP:0000152	Abnormality of head or neck	4574	MT-TS1	OMIM:220110
HP:0000152	Abnormality of head or neck	4570	MT-TN	OMIM:220110
HP:0000152	Abnormality of head or neck	6834	SURF1	OMIM:220110
HP:0000152	Abnormality of head or neck	100996717	NOTCH2NLC	OMIM:619473
HP:0000152	Abnormality of head or neck	100996717	NOTCH2NLC	ORPHA:98897
HP:0000152	Abnormality of head or neck	35	ACADS	OMIM:201470
HP:0000152	Abnormality of head or neck	50484	RRM2B	ORPHA:329336
HP:0000152	Abnormality of head or neck	246243	RNASEH1	ORPHA:329336
HP:0000152	Abnormality of head or neck	1145	CHRNE	OMIM:616324
HP:0000152	Abnormality of head or neck	57863	CADM3	OMIM:619519
HP:0000152	Abnormality of head or neck	2318	FLNC	ORPHA:63273
HP:0000152	Abnormality of head or neck	400916	CHCHD10	ORPHA:457050
HP:0000152	Abnormality of head or neck	9289	ADGRG1	ORPHA:98889
HP:0000152	Abnormality of head or neck	27286	SRPX2	ORPHA:98889
HP:0000152	Abnormality of head or neck	4703	NEB	OMIM:256030
HP:0000152	Abnormality of head or neck	4703	NEB	ORPHA:399103
HP:0000152	Abnormality of head or neck	92667	MGME1	ORPHA:352447
HP:0000152	Abnormality of head or neck	7555	CNBP	OMIM:602668
HP:0000152	Abnormality of head or neck	3714	JAG2	OMIM:619566
HP:0000152	Abnormality of head or neck	101060691	NUTM2B-AS1	OMIM:618637
HP:0000152	Abnormality of head or neck	9200	HACD1	OMIM:619967
HP:0000152	Abnormality of head or neck	9200	HACD1	ORPHA:2020
HP:0000152	Abnormality of head or neck	7125	TNNC2	OMIM:620161
HP:0000152	Abnormality of head or neck	10059	DNM1L	ORPHA:98673
HP:0000152	Abnormality of head or neck	4976	OPA1	ORPHA:98673
HP:0000152	Abnormality of head or neck	122622	ADSS1	OMIM:617030
HP:0000152	Abnormality of head or neck	122622	ADSS1	ORPHA:482601
HP:0000152	Abnormality of head or neck	1621	DBH	OMIM:223360
HP:0000152	Abnormality of head or neck	64207	IRF2BPL	OMIM:618088
HP:0000152	Abnormality of head or neck	23345	SYNE1	OMIM:618484
HP:0000152	Abnormality of head or neck	1674	DES	ORPHA:98909
HP:0000152	Abnormality of head or neck	1674	DES	OMIM:181400
HP:0000152	Abnormality of head or neck	311	ANXA11	OMIM:619733
HP:0000152	Abnormality of head or neck	1073	CFL2	OMIM:610687
HP:0000152	Abnormality of head or neck	81846	SBF2	ORPHA:99956
HP:0000152	Abnormality of head or neck	4556	MT-TE	ORPHA:2596
HP:0000152	Abnormality of head or neck	1339	COX6A2	OMIM:619062
HP:0000152	Abnormality of head or neck	56652	TWNK	OMIM:607459
HP:0000152	Abnormality of head or neck	4633	MYL2	ORPHA:2020
HP:0000152	Abnormality of head or neck	3679	ITGA7	ORPHA:2020
HP:0000152	Abnormality of head or neck	7170	TPM3	ORPHA:2020
HP:0000152	Abnormality of head or neck	51776	MAP3K20	ORPHA:2020
HP:0000152	Abnormality of head or neck	11277	TREX1	ORPHA:247691
HP:0000152	Abnormality of head or neck	88	ACTN2	OMIM:618654
HP:0000152	Abnormality of head or neck	54332	GDAP1	ORPHA:99948
HP:0000152	Abnormality of head or neck	79628	SH3TC2	ORPHA:99949
HP:0000152	Abnormality of head or neck	4632	MYL1	OMIM:618414
HP:0000152	Abnormality of head or neck	89874	SLC25A21	OMIM:618811
HP:0000152	Abnormality of head or neck	79731	NARS2	OMIM:616239
HP:0000152	Abnormality of head or neck	284439	SLC25A42	OMIM:618416
HP:0000152	Abnormality of head or neck	55154	MSTO1	ORPHA:502423
HP:0000152	Abnormality of head or neck	4747	NEFL	ORPHA:101085
HP:0000152	Abnormality of head or neck	285489	DOK7	OMIM:254300
HP:0000152	Abnormality of head or neck	3321	IGSF3	OMIM:149700
HP:0000152	Abnormality of head or neck	23137	SMC5	OMIM:620185
HP:0000152	Abnormality of head or neck	7390	UROS	OMIM:263700
HP:0000152	Abnormality of head or neck	7390	UROS	ORPHA:79277
HP:0000152	Abnormality of head or neck	2623	GATA1	ORPHA:79277
HP:0000152	Abnormality of head or neck	7389	UROD	ORPHA:95159
HP:0000152	Abnormality of head or neck	4914	NTRK1	ORPHA:642
HP:0000152	Abnormality of head or neck	5251	PHEX	ORPHA:89936
HP:0000152	Abnormality of head or neck	8074	FGF23	ORPHA:89937
HP:0000152	Abnormality of head or neck	1758	DMP1	ORPHA:289176
HP:0000152	Abnormality of head or neck	5167	ENPP1	ORPHA:289176
HP:0000152	Abnormality of head or neck	1991	ELANE	ORPHA:2686
HP:0000152	Abnormality of head or neck	1747	DLX3	ORPHA:3352
HP:0000152	Abnormality of head or neck	1272	CNTN1	OMIM:612540
HP:0000152	Abnormality of head or neck	55681	SCYL2	ORPHA:1143
HP:0000152	Abnormality of head or neck	57222	ERGIC1	ORPHA:1143
HP:0000152	Abnormality of head or neck	55553	SOX6	OMIM:618971
HP:0000152	Abnormality of head or neck	91179	SCARF2	OMIM:600920
HP:0000152	Abnormality of head or neck	10293	TRAIP	OMIM:616777
HP:0000152	Abnormality of head or neck	55753	OGDHL	OMIM:619701
HP:0000152	Abnormality of head or neck	3762	KCNJ5	ORPHA:37553
HP:0000152	Abnormality of head or neck	3759	KCNJ2	ORPHA:37553
HP:0000152	Abnormality of head or neck	3661	IRF3	OMIM:616532
HP:0000152	Abnormality of head or neck	112476	PRRT2	ORPHA:569
HP:0000152	Abnormality of head or neck	7187	TRAF3	ORPHA:1930
HP:0000152	Abnormality of head or neck	81622	UNC93B1	ORPHA:1930
HP:0000152	Abnormality of head or neck	148022	TICAM1	ORPHA:1930
HP:0000152	Abnormality of head or neck	7098	TLR3	ORPHA:1930
HP:0000152	Abnormality of head or neck	29110	TBK1	ORPHA:1930
HP:0000152	Abnormality of head or neck	28234	SLCO1B3	ORPHA:3111
HP:0000152	Abnormality of head or neck	10599	SLCO1B1	ORPHA:3111
HP:0000152	Abnormality of head or neck	59067	IL21	OMIM:615767
HP:0000152	Abnormality of head or neck	8496	PPFIBP1	OMIM:620024
HP:0000152	Abnormality of head or neck	2214	FCGR3A	OMIM:615707
HP:0000152	Abnormality of head or neck	340061	STING1	OMIM:615934
HP:0000152	Abnormality of head or neck	9313	MMP20	OMIM:612529
HP:0000152	Abnormality of head or neck	80199	FUZ	ORPHA:1136
HP:0000152	Abnormality of head or neck	129685	TAF8	OMIM:619972
HP:0000152	Abnormality of head or neck	6658	SOX3	ORPHA:67045
HP:0000152	Abnormality of head or neck	8738	CRADD	OMIM:614499
HP:0000152	Abnormality of head or neck	644096	SDHAF1	ORPHA:3208
HP:0000152	Abnormality of head or neck	26137	ZBTB20	OMIM:259050
HP:0000152	Abnormality of head or neck	2316	FLNA	OMIM:300048
HP:0000152	Abnormality of head or neck	7512	XPNPEP2	ORPHA:100057
HP:0000152	Abnormality of head or neck	710	SERPING1	ORPHA:100050
HP:0000152	Abnormality of head or neck	5896	RAG1	OMIM:601457
HP:0000152	Abnormality of head or neck	5897	RAG2	OMIM:601457
HP:0000152	Abnormality of head or neck	55714	TENM3	OMIM:615145
HP:0000152	Abnormality of head or neck	23175	LPIN1	ORPHA:99845
HP:0000152	Abnormality of head or neck	4512	MT-CO1	ORPHA:99845
HP:0000152	Abnormality of head or neck	7341	SUMO1	OMIM:613705
HP:0000152	Abnormality of head or neck	55969	RAB5IF	OMIM:616994
HP:0000152	Abnormality of head or neck	23149	FCHO1	OMIM:619164
HP:0000152	Abnormality of head or neck	51371	POMP	OMIM:618048
HP:0000152	Abnormality of head or neck	5692	PSMB4	OMIM:617591
HP:0000152	Abnormality of head or neck	5698	PSMB9	OMIM:617591
HP:0000152	Abnormality of head or neck	3115	HLA-DPB1	ORPHA:900
HP:0000152	Abnormality of head or neck	5657	PRTN3	ORPHA:900
HP:0000152	Abnormality of head or neck	3113	HLA-DPA1	ORPHA:900
HP:0000152	Abnormality of head or neck	4615	MYD88	ORPHA:33226
HP:0000152	Abnormality of head or neck	4868	NPHS1	ORPHA:656
HP:0000152	Abnormality of head or neck	23607	CD2AP	ORPHA:656
HP:0000152	Abnormality of head or neck	9688	NUP93	ORPHA:656
HP:0000152	Abnormality of head or neck	4643	MYO1E	ORPHA:656
HP:0000152	Abnormality of head or neck	64423	INF2	ORPHA:656
HP:0000152	Abnormality of head or neck	26130	GAPVD1	ORPHA:656
HP:0000152	Abnormality of head or neck	57122	NUP107	ORPHA:656
HP:0000152	Abnormality of head or neck	51479	ANKFY1	ORPHA:656
HP:0000152	Abnormality of head or neck	54443	ANLN	ORPHA:656
HP:0000152	Abnormality of head or neck	5800	PTPRO	ORPHA:656
HP:0000152	Abnormality of head or neck	286204	CRB2	ORPHA:656
HP:0000152	Abnormality of head or neck	23165	NUP205	ORPHA:656
HP:0000152	Abnormality of head or neck	2013	EMP2	ORPHA:656
HP:0000152	Abnormality of head or neck	79023	NUP37	ORPHA:656
HP:0000152	Abnormality of head or neck	51196	PLCE1	ORPHA:656
HP:0000152	Abnormality of head or neck	1285	COL4A3	ORPHA:656
HP:0000152	Abnormality of head or neck	396	ARHGDIA	ORPHA:656
HP:0000152	Abnormality of head or neck	79934	COQ8B	ORPHA:656
HP:0000152	Abnormality of head or neck	23279	NUP160	ORPHA:656
HP:0000152	Abnormality of head or neck	9863	MAGI2	ORPHA:656
HP:0000152	Abnormality of head or neck	81	ACTN4	ORPHA:656
HP:0000152	Abnormality of head or neck	7225	TRPC6	ORPHA:656
HP:0000152	Abnormality of head or neck	8542	APOL1	ORPHA:656
HP:0000152	Abnormality of head or neck	54885	TBC1D8B	ORPHA:656
HP:0000152	Abnormality of head or neck	7827	NPHS2	ORPHA:656
HP:0000152	Abnormality of head or neck	83478	ARHGAP24	ORPHA:656
HP:0000152	Abnormality of head or neck	23500	DAAM2	ORPHA:656
HP:0000152	Abnormality of head or neck	55746	NUP133	ORPHA:656
HP:0000152	Abnormality of head or neck	7045	TGFBI	OMIM:608470
HP:0000152	Abnormality of head or neck	2947	GSTM3	ORPHA:586
HP:0000152	Abnormality of head or neck	2729	GCLC	ORPHA:586
HP:0000152	Abnormality of head or neck	1084	CEACAM3	ORPHA:586
HP:0000152	Abnormality of head or neck	6556	SLC11A1	ORPHA:586
HP:0000152	Abnormality of head or neck	51164	DCTN4	ORPHA:586
HP:0000152	Abnormality of head or neck	3783	KCNN4	ORPHA:586
HP:0000152	Abnormality of head or neck	4282	MIF	ORPHA:586
HP:0000152	Abnormality of head or neck	6550	SLC9A3	ORPHA:586
HP:0000152	Abnormality of head or neck	3162	HMOX1	ORPHA:586
HP:0000152	Abnormality of head or neck	115019	SLC26A9	ORPHA:586
HP:0000152	Abnormality of head or neck	3077	HFE	ORPHA:586
HP:0000152	Abnormality of head or neck	11254	SLC6A14	ORPHA:586
HP:0000152	Abnormality of head or neck	5265	SERPINA1	ORPHA:586
HP:0000152	Abnormality of head or neck	1080	CFTR	ORPHA:586
HP:0000152	Abnormality of head or neck	1080	CFTR	OMIM:219700
HP:0000152	Abnormality of head or neck	22802	CLCA4	ORPHA:586
HP:0000152	Abnormality of head or neck	4680	CEACAM6	ORPHA:586
HP:0000152	Abnormality of head or neck	2212	FCGR2A	OMIM:219700
HP:0000152	Abnormality of head or neck	30009	TBX21	OMIM:208550
HP:0000152	Abnormality of head or neck	5732	PTGER2	OMIM:208550
HP:0000152	Abnormality of head or neck	6794	STK11	ORPHA:2869
HP:0000152	Abnormality of head or neck	6794	STK11	OMIM:175200
HP:0000152	Abnormality of head or neck	6890	TAP1	OMIM:604571
HP:0000152	Abnormality of head or neck	6891	TAP2	OMIM:604571
HP:0000152	Abnormality of head or neck	6892	TAPBP	OMIM:604571
HP:0000152	Abnormality of head or neck	9094	UNC119	OMIM:615518
HP:0000152	Abnormality of head or neck	85452	CFAP74	OMIM:620197
HP:0000152	Abnormality of head or neck	4486	MST1R	OMIM:617075
HP:0000152	Abnormality of head or neck	4609	MYC	ORPHA:543
HP:0000152	Abnormality of head or neck	50940	PDE11A	ORPHA:1359
HP:0000152	Abnormality of head or neck	8974	P4HA2	ORPHA:397
HP:0000152	Abnormality of head or neck	4791	NFKB2	ORPHA:293978
HP:0000152	Abnormality of head or neck	7132	TNFRSF1A	ORPHA:32960
HP:0000152	Abnormality of head or neck	331	XIAP	OMIM:308240
HP:0000152	Abnormality of head or neck	4068	SH2D1A	OMIM:308240
HP:0000152	Abnormality of head or neck	3858	KRT10	ORPHA:312
HP:0000152	Abnormality of head or neck	3848	KRT1	ORPHA:312
HP:0000152	Abnormality of head or neck	4143	MAT1A	OMIM:250850
HP:0000152	Abnormality of head or neck	8991	SELENBP1	OMIM:618148
HP:0000152	Abnormality of head or neck	3655	ITGA6	OMIM:619817
HP:0000152	Abnormality of head or neck	3655	ITGA6	ORPHA:79403
HP:0000152	Abnormality of head or neck	3909	LAMA3	ORPHA:79402
HP:0000152	Abnormality of head or neck	3909	LAMA3	OMIM:619784
HP:0000152	Abnormality of head or neck	3909	LAMA3	OMIM:619783
HP:0000152	Abnormality of head or neck	3918	LAMC2	ORPHA:79402
HP:0000152	Abnormality of head or neck	3918	LAMC2	OMIM:619785
HP:0000152	Abnormality of head or neck	3918	LAMC2	OMIM:619786
HP:0000152	Abnormality of head or neck	1830	DSG3	OMIM:619226
HP:0000152	Abnormality of head or neck	79574	EPS8L3	ORPHA:444
HP:0000152	Abnormality of head or neck	6144	RPL21	OMIM:615885
HP:0000152	Abnormality of head or neck	6635	SNRPE	OMIM:615059
HP:0000152	Abnormality of head or neck	8239	USP9X	ORPHA:480880
HP:0000152	Abnormality of head or neck	57379	AICDA	OMIM:605258
HP:0000152	Abnormality of head or neck	64421	DCLRE1C	ORPHA:275
HP:0000152	Abnormality of head or neck	7374	UNG	OMIM:608106
HP:0000152	Abnormality of head or neck	6340	SCNN1G	ORPHA:171876
HP:0000152	Abnormality of head or neck	6337	SCNN1A	ORPHA:171876
HP:0000152	Abnormality of head or neck	6338	SCNN1B	ORPHA:171876
HP:0000152	Abnormality of head or neck	29969	MDFIC	OMIM:620014
HP:0000152	Abnormality of head or neck	7535	ZAP70	ORPHA:911
HP:0000152	Abnormality of head or neck	1739	DLG1	ORPHA:199306
HP:0000152	Abnormality of head or neck	5156	PDGFRA	ORPHA:199306
HP:0000152	Abnormality of head or neck	9411	ARHGAP29	ORPHA:199306
HP:0000152	Abnormality of head or neck	4593	MUSK	ORPHA:98913
HP:0000152	Abnormality of head or neck	221264	AK9	ORPHA:98913
HP:0000152	Abnormality of head or neck	6310	ATXN1	ORPHA:98755
HP:0000152	Abnormality of head or neck	79759	ZNF668	OMIM:620194
HP:0000152	Abnormality of head or neck	55084	SOBP	OMIM:613671
HP:0000152	Abnormality of head or neck	79798	ARMC5	ORPHA:189427
HP:0000152	Abnormality of head or neck	8622	PDE8B	ORPHA:189439
HP:0000152	Abnormality of head or neck	779	CACNA1S	ORPHA:423
HP:0000152	Abnormality of head or neck	3026	HABP2	ORPHA:319487
HP:0000152	Abnormality of head or neck	26119	LDLRAP1	ORPHA:391665
HP:0000152	Abnormality of head or neck	64240	ABCG5	ORPHA:391665
HP:0000153	Abnormality of the mouth	3479	IGF1	ORPHA:73272
HP:0000153	Abnormality of the mouth	6948	TCN2	OMIM:275350
HP:0000153	Abnormality of the mouth	114327	EFHC1	ORPHA:307
HP:0000153	Abnormality of the mouth	114327	EFHC1	ORPHA:1941
HP:0000153	Abnormality of the mouth	1181	CLCN2	ORPHA:307
HP:0000153	Abnormality of the mouth	2554	GABRA1	ORPHA:307
HP:0000153	Abnormality of the mouth	3786	KCNQ3	ORPHA:307
HP:0000153	Abnormality of the mouth	8629	JRK	ORPHA:307
HP:0000153	Abnormality of the mouth	785	CACNB4	ORPHA:307
HP:0000153	Abnormality of the mouth	158	ADSL	OMIM:103050
HP:0000153	Abnormality of the mouth	23241	PACS2	OMIM:618067
HP:0000153	Abnormality of the mouth	10274	STAG1	ORPHA:502434
HP:0000153	Abnormality of the mouth	10274	STAG1	OMIM:617635
HP:0000153	Abnormality of the mouth	54968	TMEM70	ORPHA:1194
HP:0000153	Abnormality of the mouth	9578	CDC42BPB	OMIM:619841
HP:0000153	Abnormality of the mouth	10300	KATNB1	OMIM:616212
HP:0000153	Abnormality of the mouth	55690	PACS1	OMIM:615009
HP:0000153	Abnormality of the mouth	55690	PACS1	ORPHA:329224
HP:0000153	Abnormality of the mouth	10847	SRCAP	ORPHA:2044
HP:0000153	Abnormality of the mouth	10847	SRCAP	OMIM:136140
HP:0000153	Abnormality of the mouth	10847	SRCAP	OMIM:619595
HP:0000153	Abnormality of the mouth	23431	AP4E1	OMIM:613744
HP:0000153	Abnormality of the mouth	23431	AP4E1	ORPHA:280763
HP:0000153	Abnormality of the mouth	3764	KCNJ8	ORPHA:1517
HP:0000153	Abnormality of the mouth	9739	SETD1A	OMIM:619056
HP:0000153	Abnormality of the mouth	815	CAMK2A	OMIM:617798
HP:0000153	Abnormality of the mouth	55623	THUMPD1	OMIM:619989
HP:0000153	Abnormality of the mouth	8493	PPM1D	OMIM:617450
HP:0000153	Abnormality of the mouth	10717	AP4B1	OMIM:614066
HP:0000153	Abnormality of the mouth	10717	AP4B1	ORPHA:280763
HP:0000153	Abnormality of the mouth	11154	AP4S1	OMIM:614067
HP:0000153	Abnormality of the mouth	11154	AP4S1	ORPHA:280763
HP:0000153	Abnormality of the mouth	8363	H4C11	OMIM:619759
HP:0000153	Abnormality of the mouth	10013	HDAC6	ORPHA:163966
HP:0000153	Abnormality of the mouth	116115	ZNF526	OMIM:619877
HP:0000153	Abnormality of the mouth	8364	H4C3	OMIM:619758
HP:0000153	Abnormality of the mouth	9719	ADAMTSL2	OMIM:231050
HP:0000153	Abnormality of the mouth	57459	GATAD2B	ORPHA:363686
HP:0000153	Abnormality of the mouth	57459	GATAD2B	OMIM:615074
HP:0000153	Abnormality of the mouth	6558	SLC12A2	OMIM:619080
HP:0000153	Abnormality of the mouth	253959	RALGAPA1	OMIM:618797
HP:0000153	Abnormality of the mouth	4285	MIPEP	OMIM:617228
HP:0000153	Abnormality of the mouth	7025	NR2F1	OMIM:615722
HP:0000153	Abnormality of the mouth	79971	WLS	OMIM:619648
HP:0000153	Abnormality of the mouth	471	ATIC	OMIM:608688
HP:0000153	Abnormality of the mouth	471	ATIC	ORPHA:250977
HP:0000153	Abnormality of the mouth	5373	PMM2	ORPHA:79318
HP:0000153	Abnormality of the mouth	51574	LARP7	ORPHA:319671
HP:0000153	Abnormality of the mouth	51574	LARP7	OMIM:615071
HP:0000153	Abnormality of the mouth	51322	WAC	ORPHA:466950
HP:0000153	Abnormality of the mouth	5631	PRPS1	OMIM:300661
HP:0000153	Abnormality of the mouth	1642	DDB1	OMIM:619426
HP:0000153	Abnormality of the mouth	9488	PIGB	OMIM:618580
HP:0000153	Abnormality of the mouth	128869	PIGU	OMIM:618590
HP:0000153	Abnormality of the mouth	51412	ACTL6B	OMIM:618470
HP:0000153	Abnormality of the mouth	998	CDC42	OMIM:616737
HP:0000153	Abnormality of the mouth	998	CDC42	ORPHA:487796
HP:0000153	Abnormality of the mouth	23097	CDK19	OMIM:618916
HP:0000153	Abnormality of the mouth	9179	AP4M1	OMIM:612936
HP:0000153	Abnormality of the mouth	9179	AP4M1	ORPHA:280763
HP:0000153	Abnormality of the mouth	4948	OCA2	ORPHA:98794
HP:0000153	Abnormality of the mouth	56915	EXOSC5	OMIM:619576
HP:0000153	Abnormality of the mouth	10265	IRX5	OMIM:611174
HP:0000153	Abnormality of the mouth	201163	FLCN	OMIM:610883
HP:0000153	Abnormality of the mouth	9378	NRXN1	OMIM:614325
HP:0000153	Abnormality of the mouth	9969	MED13	OMIM:618009
HP:0000153	Abnormality of the mouth	91647	ATPAF2	OMIM:604273
HP:0000153	Abnormality of the mouth	80311	KLHL15	OMIM:300982
HP:0000153	Abnormality of the mouth	3188	HNRNPH2	OMIM:300986
HP:0000153	Abnormality of the mouth	5723	PSPH	ORPHA:79350
HP:0000153	Abnormality of the mouth	10771	ZMYND11	OMIM:616083
HP:0000153	Abnormality of the mouth	71	ACTG1	OMIM:614583
HP:0000153	Abnormality of the mouth	71	ACTG1	ORPHA:2995
HP:0000153	Abnormality of the mouth	7737	RNF113A	OMIM:300953
HP:0000153	Abnormality of the mouth	2588	GALNS	OMIM:253000
HP:0000153	Abnormality of the mouth	23040	MYT1L	OMIM:616521
HP:0000153	Abnormality of the mouth	80036	TRPM3	OMIM:620224
HP:0000153	Abnormality of the mouth	374879	ZNF699	OMIM:619488
HP:0000153	Abnormality of the mouth	54870	QRICH1	OMIM:617982
HP:0000153	Abnormality of the mouth	6299	SALL1	ORPHA:857
HP:0000153	Abnormality of the mouth	51339	DACT1	ORPHA:857
HP:0000153	Abnormality of the mouth	6748	SSR4	ORPHA:370927
HP:0000153	Abnormality of the mouth	6748	SSR4	OMIM:300934
HP:0000153	Abnormality of the mouth	51780	KDM3B	OMIM:618846
HP:0000153	Abnormality of the mouth	1663	DDX11	OMIM:613398
HP:0000153	Abnormality of the mouth	9757	KMT2B	OMIM:619934
HP:0000153	Abnormality of the mouth	64802	NMNAT1	OMIM:619260
HP:0000153	Abnormality of the mouth	57194	ATP10A	ORPHA:411515
HP:0000153	Abnormality of the mouth	134218	DNAJC21	OMIM:617052
HP:0000153	Abnormality of the mouth	134218	DNAJC21	ORPHA:811
HP:0000153	Abnormality of the mouth	5970	RELA	OMIM:618287
HP:0000153	Abnormality of the mouth	7128	TNFAIP3	OMIM:616744
HP:0000153	Abnormality of the mouth	4598	MVK	OMIM:260920
HP:0000153	Abnormality of the mouth	6775	STAT4	ORPHA:93552
HP:0000153	Abnormality of the mouth	6775	STAT4	ORPHA:117
HP:0000153	Abnormality of the mouth	6696	SPP1	ORPHA:93552
HP:0000153	Abnormality of the mouth	3654	IRAK1	ORPHA:93552
HP:0000153	Abnormality of the mouth	3575	IL7R	OMIM:608971
HP:0000153	Abnormality of the mouth	3575	IL7R	ORPHA:169154
HP:0000153	Abnormality of the mouth	959	CD40LG	OMIM:308230
HP:0000153	Abnormality of the mouth	64421	DCLRE1C	OMIM:602450
HP:0000153	Abnormality of the mouth	51284	TLR7	OMIM:301080
HP:0000153	Abnormality of the mouth	2672	GFI1	ORPHA:486
HP:0000153	Abnormality of the mouth	6729	SRP54	ORPHA:486
HP:0000153	Abnormality of the mouth	6729	SRP54	ORPHA:811
HP:0000153	Abnormality of the mouth	81570	CLPB	ORPHA:486
HP:0000153	Abnormality of the mouth	6850	SYK	OMIM:619381
HP:0000153	Abnormality of the mouth	2000	ELF4	OMIM:301074
HP:0000153	Abnormality of the mouth	8737	RIPK1	OMIM:618852
HP:0000153	Abnormality of the mouth	939	CD27	OMIM:615122
HP:0000153	Abnormality of the mouth	64127	NOD2	OMIM:617321
HP:0000153	Abnormality of the mouth	79415	CYBC1	OMIM:618935
HP:0000153	Abnormality of the mouth	3587	IL10RA	OMIM:613148
HP:0000153	Abnormality of the mouth	79631	EFL1	ORPHA:811
HP:0000153	Abnormality of the mouth	51119	SBDS	ORPHA:811
HP:0000153	Abnormality of the mouth	149233	IL23R	ORPHA:117
HP:0000153	Abnormality of the mouth	3586	IL10	ORPHA:117
HP:0000153	Abnormality of the mouth	4210	MEFV	ORPHA:117
HP:0000153	Abnormality of the mouth	1230	CCR1	ORPHA:117
HP:0000153	Abnormality of the mouth	355	FAS	ORPHA:117
HP:0000153	Abnormality of the mouth	3592	IL12A	ORPHA:117
HP:0000153	Abnormality of the mouth	101928376	IL12A-AS1	ORPHA:117
HP:0000153	Abnormality of the mouth	3106	HLA-B	ORPHA:117
HP:0000153	Abnormality of the mouth	7099	TLR4	ORPHA:117
HP:0000153	Abnormality of the mouth	3459	IFNGR1	ORPHA:117
HP:0000153	Abnormality of the mouth	720	C4A	ORPHA:117
HP:0000153	Abnormality of the mouth	337867	UBAC2	ORPHA:117
HP:0000153	Abnormality of the mouth	51752	ERAP1	ORPHA:117
HP:0000153	Abnormality of the mouth	8302	KLRC4	ORPHA:117
HP:0000153	Abnormality of the mouth	55670	PEX26	ORPHA:912
HP:0000153	Abnormality of the mouth	5824	PEX19	ORPHA:912
HP:0000153	Abnormality of the mouth	5828	PEX2	ORPHA:912
HP:0000153	Abnormality of the mouth	8504	PEX3	ORPHA:912
HP:0000153	Abnormality of the mouth	8799	PEX11B	ORPHA:912
HP:0000153	Abnormality of the mouth	5830	PEX5	ORPHA:912
HP:0000153	Abnormality of the mouth	5193	PEX12	ORPHA:912
HP:0000153	Abnormality of the mouth	5194	PEX13	ORPHA:912
HP:0000153	Abnormality of the mouth	5195	PEX14	ORPHA:912
HP:0000153	Abnormality of the mouth	5192	PEX10	ORPHA:912
HP:0000153	Abnormality of the mouth	567	B2M	ORPHA:314652
HP:0000153	Abnormality of the mouth	80025	PANK2	ORPHA:216866
HP:0000153	Abnormality of the mouth	11160	ERLIN2	ORPHA:280384
HP:0000153	Abnormality of the mouth	11160	ERLIN2	ORPHA:209951
HP:0000153	Abnormality of the mouth	51422	PRKAG2	OMIM:261740
HP:0000153	Abnormality of the mouth	9158	FIBP	ORPHA:500095
HP:0000153	Abnormality of the mouth	9158	FIBP	OMIM:617107
HP:0000153	Abnormality of the mouth	56623	INPP5E	OMIM:213300
HP:0000153	Abnormality of the mouth	411	ARSB	OMIM:253200
HP:0000153	Abnormality of the mouth	4125	MAN2B1	ORPHA:309282
HP:0000153	Abnormality of the mouth	4125	MAN2B1	ORPHA:309288
HP:0000153	Abnormality of the mouth	4125	MAN2B1	OMIM:248500
HP:0000153	Abnormality of the mouth	7849	PAX8	OMIM:218700
HP:0000153	Abnormality of the mouth	7849	PAX8	ORPHA:95720
HP:0000153	Abnormality of the mouth	7849	PAX8	ORPHA:95713
HP:0000153	Abnormality of the mouth	7849	PAX8	ORPHA:95712
HP:0000153	Abnormality of the mouth	3074	HEXB	OMIM:268800
HP:0000153	Abnormality of the mouth	65082	VPS33A	OMIM:617303
HP:0000153	Abnormality of the mouth	65082	VPS33A	ORPHA:505248
HP:0000153	Abnormality of the mouth	79158	GNPTAB	OMIM:252500
HP:0000153	Abnormality of the mouth	3767	KCNJ11	ORPHA:99886
HP:0000153	Abnormality of the mouth	346171	ZFP57	ORPHA:99886
HP:0000153	Abnormality of the mouth	57061	HYMAI	ORPHA:99886
HP:0000153	Abnormality of the mouth	57061	HYMAI	ORPHA:96191
HP:0000153	Abnormality of the mouth	6833	ABCC8	ORPHA:99886
HP:0000153	Abnormality of the mouth	5325	PLAGL1	ORPHA:99886
HP:0000153	Abnormality of the mouth	5325	PLAGL1	ORPHA:96191
HP:0000153	Abnormality of the mouth	7253	TSHR	ORPHA:90673
HP:0000153	Abnormality of the mouth	7253	TSHR	ORPHA:95720
HP:0000153	Abnormality of the mouth	7253	TSHR	ORPHA:95713
HP:0000153	Abnormality of the mouth	5172	SLC26A4	ORPHA:95720
HP:0000153	Abnormality of the mouth	5172	SLC26A4	ORPHA:95713
HP:0000153	Abnormality of the mouth	7252	TSHB	ORPHA:90674
HP:0000153	Abnormality of the mouth	7252	TSHB	OMIM:275100
HP:0000153	Abnormality of the mouth	10940	POP1	OMIM:617396
HP:0000153	Abnormality of the mouth	405753	DUOXA2	ORPHA:95716
HP:0000153	Abnormality of the mouth	6528	SLC5A5	ORPHA:95716
HP:0000153	Abnormality of the mouth	6528	SLC5A5	OMIM:274400
HP:0000153	Abnormality of the mouth	7038	TG	ORPHA:95716
HP:0000153	Abnormality of the mouth	7173	TPO	ORPHA:95716
HP:0000153	Abnormality of the mouth	389434	IYD	ORPHA:95716
HP:0000153	Abnormality of the mouth	50506	DUOX2	ORPHA:95716
HP:0000153	Abnormality of the mouth	50506	DUOX2	ORPHA:226316
HP:0000153	Abnormality of the mouth	7080	NKX2-1	ORPHA:95713
HP:0000153	Abnormality of the mouth	1482	NKX2-5	ORPHA:95713
HP:0000153	Abnormality of the mouth	1482	NKX2-5	ORPHA:95712
HP:0000153	Abnormality of the mouth	2304	FOXE1	ORPHA:95713
HP:0000153	Abnormality of the mouth	60	ACTB	ORPHA:79107
HP:0000153	Abnormality of the mouth	10483	SEC23B	ORPHA:201
HP:0000153	Abnormality of the mouth	6390	SDHB	ORPHA:201
HP:0000153	Abnormality of the mouth	6392	SDHD	ORPHA:201
HP:0000153	Abnormality of the mouth	6391	SDHC	ORPHA:201
HP:0000153	Abnormality of the mouth	205717	USF3	ORPHA:201
HP:0000153	Abnormality of the mouth	100144748	KLLN	ORPHA:201
HP:0000153	Abnormality of the mouth	112812	FDX2	OMIM:251900
HP:0000153	Abnormality of the mouth	4556	MT-TE	ORPHA:254864
HP:0000153	Abnormality of the mouth	55687	TRMU	ORPHA:254864
HP:0000153	Abnormality of the mouth	7067	THRA	OMIM:614450
HP:0000153	Abnormality of the mouth	3070	HELLS	ORPHA:2268
HP:0000153	Abnormality of the mouth	1789	DNMT3B	ORPHA:2268
HP:0000153	Abnormality of the mouth	1789	DNMT3B	OMIM:242860
HP:0000153	Abnormality of the mouth	83879	CDCA7	ORPHA:2268
HP:0000153	Abnormality of the mouth	9841	ZBTB24	ORPHA:2268
HP:0000153	Abnormality of the mouth	6023	RMRP	OMIM:607095
HP:0000153	Abnormality of the mouth	3425	IDUA	OMIM:607014
HP:0000153	Abnormality of the mouth	3425	IDUA	ORPHA:93473
HP:0000153	Abnormality of the mouth	6445	SGCG	ORPHA:353
HP:0000153	Abnormality of the mouth	2290	FOXG1	ORPHA:261144
HP:0000153	Abnormality of the mouth	57003	CCDC47	OMIM:618268
HP:0000153	Abnormality of the mouth	5626	PROP1	ORPHA:226307
HP:0000153	Abnormality of the mouth	89884	LHX4	ORPHA:226307
HP:0000153	Abnormality of the mouth	8022	LHX3	ORPHA:226307
HP:0000153	Abnormality of the mouth	5449	POU1F1	ORPHA:226307
HP:0000153	Abnormality of the mouth	5449	POU1F1	OMIM:613038
HP:0000153	Abnormality of the mouth	8820	HESX1	ORPHA:226307
HP:0000153	Abnormality of the mouth	51692	CPSF3	OMIM:619876
HP:0000153	Abnormality of the mouth	7337	UBE3A	OMIM:105830
HP:0000153	Abnormality of the mouth	29925	GMPPB	ORPHA:370959
HP:0000153	Abnormality of the mouth	4123	MAN2C1	OMIM:619775
HP:0000153	Abnormality of the mouth	54941	RNF125	OMIM:616260
HP:0000153	Abnormality of the mouth	10020	GNE	OMIM:269921
HP:0000153	Abnormality of the mouth	1028	CDKN1C	OMIM:130650
HP:0000153	Abnormality of the mouth	3784	KCNQ1	OMIM:130650
HP:0000153	Abnormality of the mouth	2990	GUSB	OMIM:253220
HP:0000153	Abnormality of the mouth	55679	LIMS2	OMIM:616827
HP:0000153	Abnormality of the mouth	29929	ALG6	ORPHA:79320
HP:0000153	Abnormality of the mouth	5468	PPARG	ORPHA:528
HP:0000153	Abnormality of the mouth	10555	AGPAT2	ORPHA:528
HP:0000153	Abnormality of the mouth	284119	CAVIN1	ORPHA:528
HP:0000153	Abnormality of the mouth	26580	BSCL2	ORPHA:528
HP:0000153	Abnormality of the mouth	2353	FOS	ORPHA:528
HP:0000153	Abnormality of the mouth	3778	KCNMA1	OMIM:618729
HP:0000153	Abnormality of the mouth	79053	ALG8	ORPHA:79325
HP:0000153	Abnormality of the mouth	54453	RIN2	ORPHA:217335
HP:0000153	Abnormality of the mouth	25970	SH2B1	ORPHA:261222
HP:0000153	Abnormality of the mouth	894	CCND2	ORPHA:83473
HP:0000153	Abnormality of the mouth	5296	PIK3R2	ORPHA:83473
HP:0000153	Abnormality of the mouth	10000	AKT3	ORPHA:83473
HP:0000153	Abnormality of the mouth	775	CACNA1C	OMIM:620029
HP:0000153	Abnormality of the mouth	2720	GLB1	OMIM:230600
HP:0000153	Abnormality of the mouth	5077	PAX3	ORPHA:1529
HP:0000153	Abnormality of the mouth	4774	NFIA	OMIM:613735
HP:0000153	Abnormality of the mouth	5447	POR	ORPHA:95699
HP:0000153	Abnormality of the mouth	4312	MMP1	ORPHA:79408
HP:0000153	Abnormality of the mouth	4312	MMP1	OMIM:226600
HP:0000153	Abnormality of the mouth	1294	COL7A1	ORPHA:79408
HP:0000153	Abnormality of the mouth	1294	COL7A1	OMIM:226600
HP:0000153	Abnormality of the mouth	1294	COL7A1	ORPHA:89842
HP:0000153	Abnormality of the mouth	613	BCR	ORPHA:261330
HP:0000153	Abnormality of the mouth	1399	CRKL	ORPHA:261330
HP:0000153	Abnormality of the mouth	5594	MAPK1	ORPHA:261330
HP:0000153	Abnormality of the mouth	89910	UBE3B	OMIM:244450
HP:0000153	Abnormality of the mouth	51506	UFC1	OMIM:618076
HP:0000153	Abnormality of the mouth	4010	LMX1B	ORPHA:495818
HP:0000153	Abnormality of the mouth	6812	STXBP1	ORPHA:495818
HP:0000153	Abnormality of the mouth	341640	FREM2	OMIM:617666
HP:0000153	Abnormality of the mouth	25914	RTTN	OMIM:614833
HP:0000153	Abnormality of the mouth	25914	RTTN	ORPHA:468631
HP:0000153	Abnormality of the mouth	10084	PQBP1	ORPHA:93946
HP:0000153	Abnormality of the mouth	10084	PQBP1	OMIM:309500
HP:0000153	Abnormality of the mouth	6662	SOX9	OMIM:114290
HP:0000153	Abnormality of the mouth	28960	DCPS	OMIM:616459
HP:0000153	Abnormality of the mouth	9723	SEMA3E	ORPHA:138
HP:0000153	Abnormality of the mouth	9382	COG1	OMIM:611209
HP:0000153	Abnormality of the mouth	9382	COG1	ORPHA:263508
HP:0000153	Abnormality of the mouth	1146	CHRNG	OMIM:265000
HP:0000153	Abnormality of the mouth	113189	CHST14	ORPHA:2953
HP:0000153	Abnormality of the mouth	113189	CHST14	OMIM:601776
HP:0000153	Abnormality of the mouth	29940	DSE	ORPHA:2953
HP:0000153	Abnormality of the mouth	29940	DSE	OMIM:615539
HP:0000153	Abnormality of the mouth	55681	SCYL2	OMIM:618766
HP:0000153	Abnormality of the mouth	55699	IARS2	ORPHA:436174
HP:0000153	Abnormality of the mouth	55699	IARS2	OMIM:616007
HP:0000153	Abnormality of the mouth	4604	MYBPC1	OMIM:618524
HP:0000153	Abnormality of the mouth	4604	MYBPC1	ORPHA:1146
HP:0000153	Abnormality of the mouth	857	CAV1	OMIM:606721
HP:0000153	Abnormality of the mouth	64919	BCL11B	OMIM:618092
HP:0000153	Abnormality of the mouth	5424	POLD1	OMIM:615381
HP:0000153	Abnormality of the mouth	4174	MCM5	OMIM:617564
HP:0000153	Abnormality of the mouth	23327	NEDD4L	OMIM:617201
HP:0000153	Abnormality of the mouth	657	BMPR1A	ORPHA:79076
HP:0000153	Abnormality of the mouth	10801	SEPTIN9	OMIM:162100
HP:0000153	Abnormality of the mouth	10801	SEPTIN9	ORPHA:2901
HP:0000153	Abnormality of the mouth	4593	MUSK	OMIM:208150
HP:0000153	Abnormality of the mouth	7862	BRPF1	OMIM:617333
HP:0000153	Abnormality of the mouth	5048	PAFAH1B1	ORPHA:217385
HP:0000153	Abnormality of the mouth	7531	YWHAE	ORPHA:217385
HP:0000153	Abnormality of the mouth	5590	PRKCZ	ORPHA:1606
HP:0000153	Abnormality of the mouth	2563	GABRD	ORPHA:1606
HP:0000153	Abnormality of the mouth	23013	SPEN	ORPHA:1606
HP:0000153	Abnormality of the mouth	8510	MMP23B	ORPHA:1606
HP:0000153	Abnormality of the mouth	7798	LUZP1	ORPHA:1606
HP:0000153	Abnormality of the mouth	10630	PDPN	ORPHA:1606
HP:0000153	Abnormality of the mouth	10277	UBE4B	ORPHA:1606
HP:0000153	Abnormality of the mouth	8514	KCNAB2	ORPHA:1606
HP:0000153	Abnormality of the mouth	63976	PRDM16	ORPHA:1606
HP:0000153	Abnormality of the mouth	54897	CASZ1	ORPHA:1606
HP:0000153	Abnormality of the mouth	6134	RPL10	ORPHA:459070
HP:0000153	Abnormality of the mouth	6134	RPL10	OMIM:300998
HP:0000153	Abnormality of the mouth	3675	ITGA3	OMIM:614748
HP:0000153	Abnormality of the mouth	145258	GSC	OMIM:602471
HP:0000153	Abnormality of the mouth	55027	HEATR3	OMIM:620072
HP:0000153	Abnormality of the mouth	54928	BPNT2	OMIM:614078
HP:0000153	Abnormality of the mouth	7140	TNNT3	OMIM:618435
HP:0000153	Abnormality of the mouth	7140	TNNT3	ORPHA:1146
HP:0000153	Abnormality of the mouth	8642	DCHS1	ORPHA:314679
HP:0000153	Abnormality of the mouth	5832	ALDH18A1	OMIM:219150
HP:0000153	Abnormality of the mouth	84919	PPP1R15B	OMIM:616817
HP:0000153	Abnormality of the mouth	84919	PPP1R15B	ORPHA:391408
HP:0000153	Abnormality of the mouth	91949	COG7	ORPHA:79333
HP:0000153	Abnormality of the mouth	91949	COG7	OMIM:608779
HP:0000153	Abnormality of the mouth	124583	CANT1	OMIM:251450
HP:0000153	Abnormality of the mouth	2556	GABRA3	OMIM:301091
HP:0000153	Abnormality of the mouth	23162	MAPK8IP3	OMIM:618443
HP:0000153	Abnormality of the mouth	4193	MDM2	OMIM:618681
HP:0000153	Abnormality of the mouth	7169	TPM2	ORPHA:1146
HP:0000153	Abnormality of the mouth	7169	TPM2	OMIM:108120
HP:0000153	Abnormality of the mouth	7136	TNNI2	ORPHA:1146
HP:0000153	Abnormality of the mouth	7136	TNNI2	OMIM:601680
HP:0000153	Abnormality of the mouth	7994	KAT6A	OMIM:616268
HP:0000153	Abnormality of the mouth	8621	CDK13	OMIM:617360
HP:0000153	Abnormality of the mouth	55212	BBS7	OMIM:615984
HP:0000153	Abnormality of the mouth	6878	TAF6	OMIM:617126
HP:0000153	Abnormality of the mouth	55217	TMLHE	OMIM:300872
HP:0000153	Abnormality of the mouth	5396	PRRX1	OMIM:202650
HP:0000153	Abnormality of the mouth	5396	PRRX1	ORPHA:990
HP:0000153	Abnormality of the mouth	4703	NEB	OMIM:256030
HP:0000153	Abnormality of the mouth	7473	WNT3	ORPHA:3301
HP:0000153	Abnormality of the mouth	340419	RSPO2	ORPHA:3301
HP:0000153	Abnormality of the mouth	221496	LEMD2	OMIM:619322
HP:0000153	Abnormality of the mouth	650	BMP2	ORPHA:261295
HP:0000153	Abnormality of the mouth	91179	SCARF2	OMIM:600920
HP:0000153	Abnormality of the mouth	10982	MAPRE2	OMIM:616734
HP:0000153	Abnormality of the mouth	56975	FAM20C	OMIM:259775
HP:0000153	Abnormality of the mouth	51132	RLIM	OMIM:300978
HP:0000153	Abnormality of the mouth	22930	RAB3GAP1	OMIM:600118
HP:0000153	Abnormality of the mouth	9325	TRIP4	OMIM:616866
HP:0000153	Abnormality of the mouth	6045	RNF2	OMIM:619460
HP:0000153	Abnormality of the mouth	9496	TBX4	ORPHA:261279
HP:0000153	Abnormality of the mouth	5277	PIGA	OMIM:300868
HP:0000153	Abnormality of the mouth	128637	TBC1D20	OMIM:615663
HP:0000153	Abnormality of the mouth	55210	ATAD3A	OMIM:618810
HP:0000153	Abnormality of the mouth	9244	CRLF1	OMIM:272430
HP:0000153	Abnormality of the mouth	9244	CRLF1	ORPHA:1545
HP:0000153	Abnormality of the mouth	29980	DONSON	OMIM:251230
HP:0000153	Abnormality of the mouth	5015	OTX2	ORPHA:990
HP:0000153	Abnormality of the mouth	80152	CENPT	OMIM:618702
HP:0000153	Abnormality of the mouth	23545	ATP6V0A2	OMIM:219200
HP:0000153	Abnormality of the mouth	203068	TUBB	OMIM:156610
HP:0000153	Abnormality of the mouth	9702	CEP57	OMIM:614114
HP:0000153	Abnormality of the mouth	57570	TRMT5	OMIM:616539
HP:0000153	Abnormality of the mouth	93587	TRMT10A	ORPHA:391408
HP:0000153	Abnormality of the mouth	2186	BPTF	OMIM:617755
HP:0000153	Abnormality of the mouth	203190	LGI3	OMIM:620007
HP:0000153	Abnormality of the mouth	23529	CLCF1	ORPHA:1545
HP:0000153	Abnormality of the mouth	11011	TLK2	OMIM:618050
HP:0000153	Abnormality of the mouth	9469	CHST3	OMIM:245600
HP:0000153	Abnormality of the mouth	26229	B3GAT3	OMIM:245600
HP:0000153	Abnormality of the mouth	55553	SOX6	OMIM:618971
HP:0000153	Abnormality of the mouth	3735	KARS1	OMIM:619147
HP:0000153	Abnormality of the mouth	221692	PHACTR1	OMIM:618298
HP:0000153	Abnormality of the mouth	529	ATP6V1E1	OMIM:617402
HP:0000153	Abnormality of the mouth	5290	PIK3CA	OMIM:615108
HP:0000153	Abnormality of the mouth	3480	IGF1R	OMIM:270450
HP:0000153	Abnormality of the mouth	121340	SP7	OMIM:613849
HP:0000153	Abnormality of the mouth	57724	EPG5	OMIM:242840
HP:0000153	Abnormality of the mouth	81788	NUAK2	OMIM:619452
HP:0000153	Abnormality of the mouth	6608	SMO	OMIM:241800
HP:0000153	Abnormality of the mouth	257	ALX3	OMIM:136760
HP:0000153	Abnormality of the mouth	22858	CILK1	OMIM:612651
HP:0000153	Abnormality of the mouth	27152	INTU	OMIM:617926
HP:0000153	Abnormality of the mouth	695	BTK	ORPHA:47
HP:0000153	Abnormality of the mouth	1909	EDNRA	OMIM:616367
HP:0000153	Abnormality of the mouth	347734	SLC35B2	OMIM:620269
HP:0000153	Abnormality of the mouth	27125	AFF4	ORPHA:444077
HP:0000153	Abnormality of the mouth	23114	NFASC	OMIM:618356
HP:0000153	Abnormality of the mouth	9409	PEX16	OMIM:614876
HP:0000153	Abnormality of the mouth	389827	MYMK	OMIM:254940
HP:0000153	Abnormality of the mouth	389827	MYMK	ORPHA:1358
HP:0000153	Abnormality of the mouth	1493	CTLA4	ORPHA:900
HP:0000153	Abnormality of the mouth	26191	PTPN22	ORPHA:900
HP:0000153	Abnormality of the mouth	3115	HLA-DPB1	ORPHA:900
HP:0000153	Abnormality of the mouth	5657	PRTN3	ORPHA:900
HP:0000153	Abnormality of the mouth	3113	HLA-DPA1	ORPHA:900
HP:0000153	Abnormality of the mouth	79092	CARD14	ORPHA:2897
HP:0000153	Abnormality of the mouth	7421	VDR	ORPHA:93160
HP:0000153	Abnormality of the mouth	4621	MYH3	ORPHA:2053
HP:0000153	Abnormality of the mouth	259232	NALCN	ORPHA:2053
HP:0000153	Abnormality of the mouth	1947	EFNB1	ORPHA:1520
HP:0000153	Abnormality of the mouth	1947	EFNB1	OMIM:304110
HP:0000153	Abnormality of the mouth	3891	KRT85	OMIM:602032
HP:0000153	Abnormality of the mouth	1161	ERCC8	ORPHA:90321
HP:0000153	Abnormality of the mouth	2072	ERCC4	ORPHA:90321
HP:0000153	Abnormality of the mouth	2072	ERCC4	ORPHA:910
HP:0000153	Abnormality of the mouth	2074	ERCC6	ORPHA:90321
HP:0000153	Abnormality of the mouth	29072	SETD2	ORPHA:821
HP:0000153	Abnormality of the mouth	249	ALPL	OMIM:241500
HP:0000153	Abnormality of the mouth	121391	KRT74	OMIM:613981
HP:0000153	Abnormality of the mouth	121391	KRT74	ORPHA:90368
HP:0000153	Abnormality of the mouth	121391	KRT74	OMIM:614929
HP:0000153	Abnormality of the mouth	5818	NECTIN1	ORPHA:3253
HP:0000153	Abnormality of the mouth	7015	TERT	OMIM:613989
HP:0000153	Abnormality of the mouth	7015	TERT	ORPHA:1775
HP:0000153	Abnormality of the mouth	112752	IFT43	ORPHA:1515
HP:0000153	Abnormality of the mouth	51098	IFT52	ORPHA:1515
HP:0000153	Abnormality of the mouth	55764	IFT122	ORPHA:1515
HP:0000153	Abnormality of the mouth	57728	WDR19	ORPHA:1515
HP:0000153	Abnormality of the mouth	7298	TYMS	OMIM:620040
HP:0000153	Abnormality of the mouth	7298	TYMS	ORPHA:1775
HP:0000153	Abnormality of the mouth	54345	SOX18	OMIM:607823
HP:0000153	Abnormality of the mouth	191	AHCY	OMIM:613752
HP:0000153	Abnormality of the mouth	191	AHCY	ORPHA:88618
HP:0000153	Abnormality of the mouth	5339	PLEC	ORPHA:79401
HP:0000153	Abnormality of the mouth	81848	SPRY4	OMIM:615266
HP:0000153	Abnormality of the mouth	81848	SPRY4	ORPHA:432
HP:0000153	Abnormality of the mouth	1848	DUSP6	OMIM:615269
HP:0000153	Abnormality of the mouth	1848	DUSP6	ORPHA:432
HP:0000153	Abnormality of the mouth	54756	IL17RD	OMIM:615267
HP:0000153	Abnormality of the mouth	23461	ABCA5	ORPHA:2026
HP:0000153	Abnormality of the mouth	4853	NOTCH2	ORPHA:955
HP:0000153	Abnormality of the mouth	4053	LTBP2	OMIM:251750
HP:0000153	Abnormality of the mouth	3981	LIG4	ORPHA:235
HP:0000153	Abnormality of the mouth	54888	NSUN2	ORPHA:235
HP:0000153	Abnormality of the mouth	10804	GJB6	ORPHA:477
HP:0000153	Abnormality of the mouth	10804	GJB6	OMIM:129500
HP:0000153	Abnormality of the mouth	2706	GJB2	ORPHA:477
HP:0000153	Abnormality of the mouth	3043	HBB	ORPHA:231214
HP:0000153	Abnormality of the mouth	3043	HBB	ORPHA:231226
HP:0000153	Abnormality of the mouth	6774	STAT3	OMIM:615952
HP:0000153	Abnormality of the mouth	6774	STAT3	ORPHA:2314
HP:0000153	Abnormality of the mouth	1041	CDSN	ORPHA:90368
HP:0000153	Abnormality of the mouth	1041	CDSN	OMIM:146520
HP:0000153	Abnormality of the mouth	4803	NGF	ORPHA:64752
HP:0000153	Abnormality of the mouth	5189	PEX1	ORPHA:3220
HP:0000153	Abnormality of the mouth	5190	PEX6	ORPHA:3220
HP:0000153	Abnormality of the mouth	79228	THOC6	ORPHA:363444
HP:0000153	Abnormality of the mouth	9533	POLR1C	OMIM:616494
HP:0000153	Abnormality of the mouth	9533	POLR1C	ORPHA:861
HP:0000153	Abnormality of the mouth	4982	TNFRSF11B	ORPHA:2801
HP:0000153	Abnormality of the mouth	11128	POLR3A	ORPHA:3455
HP:0000153	Abnormality of the mouth	11107	PRDM5	ORPHA:90354
HP:0000153	Abnormality of the mouth	84627	ZNF469	ORPHA:90354
HP:0000153	Abnormality of the mouth	3481	IGF2	ORPHA:2128
HP:0000153	Abnormality of the mouth	10984	KCNQ1OT1	ORPHA:2128
HP:0000153	Abnormality of the mouth	283120	H19	ORPHA:2128
HP:0000153	Abnormality of the mouth	5308	PITX2	OMIM:137600
HP:0000153	Abnormality of the mouth	3977	LIFR	ORPHA:3206
HP:0000153	Abnormality of the mouth	3930	LBR	OMIM:169400
HP:0000153	Abnormality of the mouth	1832	DSP	OMIM:612908
HP:0000153	Abnormality of the mouth	1186	CLCN7	ORPHA:53
HP:0000153	Abnormality of the mouth	1186	CLCN7	ORPHA:210110
HP:0000153	Abnormality of the mouth	60529	ALX4	ORPHA:228390
HP:0000153	Abnormality of the mouth	585	BBS4	OMIM:615982
HP:0000153	Abnormality of the mouth	4212	MEIS2	ORPHA:261190
HP:0000153	Abnormality of the mouth	2245	FGD1	ORPHA:915
HP:0000153	Abnormality of the mouth	4204	MECP2	OMIM:312750
HP:0000153	Abnormality of the mouth	7189	TRAF6	ORPHA:1810
HP:0000153	Abnormality of the mouth	126695	KDF1	ORPHA:1810
HP:0000153	Abnormality of the mouth	10913	EDAR	ORPHA:1810
HP:0000153	Abnormality of the mouth	2068	ERCC2	ORPHA:910
HP:0000153	Abnormality of the mouth	7507	XPA	ORPHA:910
HP:0000153	Abnormality of the mouth	2071	ERCC3	ORPHA:910
HP:0000153	Abnormality of the mouth	7508	XPC	ORPHA:910
HP:0000153	Abnormality of the mouth	1643	DDB2	ORPHA:910
HP:0000153	Abnormality of the mouth	2073	ERCC5	ORPHA:910
HP:0000153	Abnormality of the mouth	64132	XYLT2	OMIM:605822
HP:0000153	Abnormality of the mouth	128674	PROKR2	ORPHA:432
HP:0000153	Abnormality of the mouth	60675	PROK2	ORPHA:432
HP:0000153	Abnormality of the mouth	55636	CHD7	ORPHA:432
HP:0000153	Abnormality of the mouth	6870	TACR3	ORPHA:432
HP:0000153	Abnormality of the mouth	26012	NSMF	ORPHA:432
HP:0000153	Abnormality of the mouth	55717	WDR11	ORPHA:432
HP:0000153	Abnormality of the mouth	9394	HS6ST1	ORPHA:432
HP:0000153	Abnormality of the mouth	2796	GNRH1	ORPHA:432
HP:0000153	Abnormality of the mouth	2798	GNRHR	ORPHA:432
HP:0000153	Abnormality of the mouth	84634	KISS1R	ORPHA:432
HP:0000153	Abnormality of the mouth	6866	TAC3	ORPHA:432
HP:0000153	Abnormality of the mouth	8822	FGF17	ORPHA:432
HP:0000153	Abnormality of the mouth	3814	KISS1	ORPHA:432
HP:0000153	Abnormality of the mouth	147495	APCDD1	OMIM:605389
HP:0000153	Abnormality of the mouth	2335	FN1	ORPHA:93315
HP:0000153	Abnormality of the mouth	9150	CTDP1	OMIM:604168
HP:0000153	Abnormality of the mouth	113179	ADAT3	ORPHA:363528
HP:0000153	Abnormality of the mouth	23586	RIGI	OMIM:616298
HP:0000153	Abnormality of the mouth	9342	SNAP29	ORPHA:66631
HP:0000153	Abnormality of the mouth	6144	RPL21	OMIM:615885
HP:0000153	Abnormality of the mouth	55784	MCTP2	ORPHA:1596
HP:0000153	Abnormality of the mouth	1825	DSC3	OMIM:613102
HP:0000153	Abnormality of the mouth	162514	TRPV3	ORPHA:659
HP:0000153	Abnormality of the mouth	10651	MTX2	ORPHA:90153
HP:0000153	Abnormality of the mouth	51114	ZDHHC9	ORPHA:776
HP:0000153	Abnormality of the mouth	65109	UPF3B	ORPHA:776
HP:0000153	Abnormality of the mouth	147409	DSG4	ORPHA:573
HP:0000153	Abnormality of the mouth	3892	KRT86	ORPHA:573
HP:0000153	Abnormality of the mouth	3889	KRT83	ORPHA:573
HP:0000153	Abnormality of the mouth	3889	KRT83	OMIM:617756
HP:0000153	Abnormality of the mouth	3887	KRT81	ORPHA:573
HP:0000153	Abnormality of the mouth	55603	TENT5A	OMIM:617952
HP:0000153	Abnormality of the mouth	92344	GORAB	OMIM:231070
HP:0000153	Abnormality of the mouth	1312	COMT	ORPHA:567
HP:0000153	Abnormality of the mouth	221037	JMJD1C	ORPHA:567
HP:0000153	Abnormality of the mouth	2812	GP1BB	ORPHA:567
HP:0000153	Abnormality of the mouth	6239	RREB1	ORPHA:567
HP:0000153	Abnormality of the mouth	7290	HIRA	ORPHA:567
HP:0000153	Abnormality of the mouth	9632	SEC24C	ORPHA:567
HP:0000153	Abnormality of the mouth	7353	UFD1	ORPHA:567
HP:0000153	Abnormality of the mouth	421	ARVCF	ORPHA:567
HP:0000153	Abnormality of the mouth	197131	UBR1	ORPHA:2315
HP:0000153	Abnormality of the mouth	1001	CDH3	OMIM:601553
HP:0000153	Abnormality of the mouth	7703	PCGF2	OMIM:618371
HP:0000153	Abnormality of the mouth	8985	PLOD3	OMIM:612394
HP:0000153	Abnormality of the mouth	151516	ASPRV1	ORPHA:313
HP:0000153	Abnormality of the mouth	242	ALOX12B	ORPHA:313
HP:0000153	Abnormality of the mouth	126410	CYP4F22	ORPHA:313
HP:0000153	Abnormality of the mouth	6820	SULT2B1	ORPHA:313
HP:0000153	Abnormality of the mouth	26154	ABCA12	ORPHA:313
HP:0000153	Abnormality of the mouth	643418	LIPN	ORPHA:313
HP:0000153	Abnormality of the mouth	59344	ALOXE3	ORPHA:313
HP:0000153	Abnormality of the mouth	348938	NIPAL4	ORPHA:313
HP:0000153	Abnormality of the mouth	121214	SDR9C7	ORPHA:313
HP:0000153	Abnormality of the mouth	7051	TGM1	ORPHA:313
HP:0000153	Abnormality of the mouth	1075	CTSC	ORPHA:678
HP:0000153	Abnormality of the mouth	80185	TTI2	ORPHA:391307
HP:0000153	Abnormality of the mouth	10312	TCIRG1	ORPHA:210110
HP:0000153	Abnormality of the mouth	9842	PLEKHM1	ORPHA:210110
HP:0000153	Abnormality of the mouth	200879	LIPH	OMIM:604379
HP:0000153	Abnormality of the mouth	29957	SLC25A24	ORPHA:2095
HP:0000153	Abnormality of the mouth	64840	PORCN	ORPHA:2092
HP:0000153	Abnormality of the mouth	79574	EPS8L3	OMIM:612841
HP:0000153	Abnormality of the mouth	4796	TONSL	OMIM:271510
HP:0000153	Abnormality of the mouth	189	AGXT	ORPHA:93598
HP:0000153	Abnormality of the mouth	84172	POLR1B	ORPHA:861
HP:0000153	Abnormality of the mouth	51082	POLR1D	ORPHA:861
HP:0000153	Abnormality of the mouth	79983	POF1B	OMIM:300604
HP:0000153	Abnormality of the mouth	7204	TRIO	ORPHA:476126
HP:0000153	Abnormality of the mouth	10161	LPAR6	OMIM:278150
HP:0000153	Abnormality of the mouth	60681	FKBP10	OMIM:259450
HP:0000153	Abnormality of the mouth	4014	LORICRIN	OMIM:604117
HP:0000153	Abnormality of the mouth	4094	MAF	OMIM:601088
HP:0000153	Abnormality of the mouth	84905	ZNF341	OMIM:618282
HP:0000153	Abnormality of the mouth	5295	PIK3R1	ORPHA:3163
HP:0000153	Abnormality of the mouth	89970	RSPRY1	ORPHA:457395
HP:0000153	Abnormality of the mouth	23592	LEMD3	ORPHA:1306
HP:0000153	Abnormality of the mouth	5286	PIK3C2A	ORPHA:557003
HP:0000153	Abnormality of the mouth	23309	SIN3B	ORPHA:500166
HP:0000153	Abnormality of the mouth	65057	ACD	OMIM:616553
HP:0000153	Abnormality of the mouth	80169	CTC1	ORPHA:1775
HP:0000153	Abnormality of the mouth	26277	TINF2	ORPHA:1775
HP:0000153	Abnormality of the mouth	55651	NHP2	ORPHA:1775
HP:0000153	Abnormality of the mouth	79650	USB1	ORPHA:1775
HP:0000153	Abnormality of the mouth	55135	WRAP53	ORPHA:1775
HP:0000153	Abnormality of the mouth	51750	RTEL1	ORPHA:1775
HP:0000153	Abnormality of the mouth	4869	NPM1	ORPHA:1775
HP:0000153	Abnormality of the mouth	7012	TERC	ORPHA:1775
HP:0000153	Abnormality of the mouth	55505	NOP10	ORPHA:1775
HP:0000153	Abnormality of the mouth	5073	PARN	ORPHA:1775
HP:0000153	Abnormality of the mouth	1736	DKC1	ORPHA:1775
HP:0000153	Abnormality of the mouth	157657	CFAP418	OMIM:617406
HP:0000153	Abnormality of the mouth	3229	HOXC13	OMIM:614931
HP:0000153	Abnormality of the mouth	51002	TPRKB	ORPHA:2065
HP:0000153	Abnormality of the mouth	84942	WDR73	ORPHA:2065
HP:0000153	Abnormality of the mouth	55644	OSGEP	ORPHA:2065
HP:0000153	Abnormality of the mouth	57122	NUP107	ORPHA:2065
HP:0000153	Abnormality of the mouth	10785	WDR4	ORPHA:2065
HP:0000153	Abnormality of the mouth	55746	NUP133	ORPHA:2065
HP:0000153	Abnormality of the mouth	112858	TP53RK	ORPHA:2065
HP:0000153	Abnormality of the mouth	8270	LAGE3	ORPHA:2065
HP:0000153	Abnormality of the mouth	3852	KRT5	ORPHA:79397
HP:0000153	Abnormality of the mouth	3852	KRT5	ORPHA:79399
HP:0000153	Abnormality of the mouth	25886	POC1A	OMIM:614813
HP:0000153	Abnormality of the mouth	4322	MMP13	ORPHA:2501
HP:0000153	Abnormality of the mouth	64682	ANAPC1	ORPHA:221008
HP:0000153	Abnormality of the mouth	847	CAT	ORPHA:926
HP:0000153	Abnormality of the mouth	7852	CXCR4	ORPHA:51636
HP:0000153	Abnormality of the mouth	4221	MEN1	ORPHA:652
HP:0000153	Abnormality of the mouth	1027	CDKN1B	ORPHA:652
HP:0000153	Abnormality of the mouth	1026	CDKN1A	ORPHA:652
HP:0000153	Abnormality of the mouth	1030	CDKN2B	ORPHA:652
HP:0000153	Abnormality of the mouth	1031	CDKN2C	ORPHA:652
HP:0000153	Abnormality of the mouth	5159	PDGFRB	ORPHA:2591
HP:0000153	Abnormality of the mouth	118429	ANTXR2	OMIM:228600
HP:0000153	Abnormality of the mouth	118429	ANTXR2	ORPHA:2028
HP:0000153	Abnormality of the mouth	7249	TSC2	OMIM:613254
HP:0000153	Abnormality of the mouth	3458	IFNG	OMIM:613254
HP:0000153	Abnormality of the mouth	5978	REST	ORPHA:2024
HP:0000153	Abnormality of the mouth	5978	REST	OMIM:617626
HP:0000153	Abnormality of the mouth	7248	TSC1	OMIM:191100
HP:0000153	Abnormality of the mouth	84823	LMNB2	OMIM:616540
HP:0000153	Abnormality of the mouth	5932	RBBP8	OMIM:606744
HP:0000153	Abnormality of the mouth	4591	TRIM37	OMIM:253250
HP:0000153	Abnormality of the mouth	123606	NIPA1	ORPHA:261183
HP:0000153	Abnormality of the mouth	7283	TUBG1	ORPHA:261183
HP:0000153	Abnormality of the mouth	81614	NIPA2	ORPHA:261183
HP:0000153	Abnormality of the mouth	1303	COL12A1	ORPHA:75840
HP:0000153	Abnormality of the mouth	1291	COL6A1	ORPHA:75840
HP:0000153	Abnormality of the mouth	1292	COL6A2	ORPHA:75840
HP:0000153	Abnormality of the mouth	1293	COL6A3	ORPHA:75840
HP:0000153	Abnormality of the mouth	114548	NLRP3	ORPHA:575
HP:0000153	Abnormality of the mouth	538	ATP7A	ORPHA:565
HP:0000153	Abnormality of the mouth	2313	FLI1	ORPHA:2308
HP:0000153	Abnormality of the mouth	10617	STAMBP	OMIM:614261
HP:0000153	Abnormality of the mouth	91452	ACBD5	OMIM:618863
HP:0000153	Abnormality of the mouth	1836	SLC26A2	ORPHA:56304
HP:0000153	Abnormality of the mouth	1836	SLC26A2	ORPHA:628
HP:0000153	Abnormality of the mouth	1836	SLC26A2	OMIM:256050
HP:0000153	Abnormality of the mouth	1836	SLC26A2	ORPHA:93307
HP:0000153	Abnormality of the mouth	1836	SLC26A2	OMIM:222600
HP:0000153	Abnormality of the mouth	267010	RNU12	OMIM:603116
HP:0000153	Abnormality of the mouth	1739	DLG1	ORPHA:199306
HP:0000153	Abnormality of the mouth	999	CDH1	ORPHA:199306
HP:0000153	Abnormality of the mouth	999	CDH1	OMIM:137215
HP:0000153	Abnormality of the mouth	5156	PDGFRA	ORPHA:199306
HP:0000153	Abnormality of the mouth	9411	ARHGAP29	ORPHA:199306
HP:0000153	Abnormality of the mouth	1748	DLX4	ORPHA:199306
HP:0000153	Abnormality of the mouth	1723	DHODH	OMIM:263750
HP:0000153	Abnormality of the mouth	1723	DHODH	ORPHA:246
HP:0000153	Abnormality of the mouth	2782	GNB1	ORPHA:488613
HP:0000153	Abnormality of the mouth	2782	GNB1	OMIM:616973
HP:0000153	Abnormality of the mouth	23322	RPGRIP1L	ORPHA:220497
HP:0000153	Abnormality of the mouth	23322	RPGRIP1L	ORPHA:564
HP:0000153	Abnormality of the mouth	23322	RPGRIP1L	OMIM:611561
HP:0000153	Abnormality of the mouth	4867	NPHP1	ORPHA:220497
HP:0000153	Abnormality of the mouth	84466	MEGF10	OMIM:614399
HP:0000153	Abnormality of the mouth	126792	B3GALT6	ORPHA:2725
HP:0000153	Abnormality of the mouth	126792	B3GALT6	OMIM:271640
HP:0000153	Abnormality of the mouth	126792	B3GALT6	ORPHA:93359
HP:0000153	Abnormality of the mouth	126792	B3GALT6	OMIM:615349
HP:0000153	Abnormality of the mouth	72	ACTG2	ORPHA:2604
HP:0000153	Abnormality of the mouth	95681	CEP41	ORPHA:220493
HP:0000153	Abnormality of the mouth	51684	SUFU	ORPHA:280200
HP:0000153	Abnormality of the mouth	10584	COLEC10	OMIM:248340
HP:0000153	Abnormality of the mouth	25885	POLR1A	OMIM:616462
HP:0000153	Abnormality of the mouth	5191	PEX7	OMIM:215100
HP:0000153	Abnormality of the mouth	26057	ANKRD17	OMIM:619504
HP:0000153	Abnormality of the mouth	57167	SALL4	ORPHA:233
HP:0000153	Abnormality of the mouth	9935	MAFB	ORPHA:233
HP:0000153	Abnormality of the mouth	1123	CHN1	ORPHA:233
HP:0000153	Abnormality of the mouth	79659	DYNC2H1	OMIM:613091
HP:0000153	Abnormality of the mouth	1349	COX7B	OMIM:309801
HP:0000153	Abnormality of the mouth	3052	HCCS	OMIM:309801
HP:0000153	Abnormality of the mouth	54539	NDUFB11	OMIM:309801
HP:0000153	Abnormality of the mouth	8516	ITGA8	ORPHA:1848
HP:0000153	Abnormality of the mouth	26281	FGF20	ORPHA:1848
HP:0000153	Abnormality of the mouth	2674	GFRA1	ORPHA:1848
HP:0000153	Abnormality of the mouth	7484	WNT9B	ORPHA:1848
HP:0000153	Abnormality of the mouth	80000	GREB1L	ORPHA:1848
HP:0000153	Abnormality of the mouth	5925	RB1	OMIM:180200
HP:0000153	Abnormality of the mouth	147912	SIX5	ORPHA:107
HP:0000153	Abnormality of the mouth	1749	DLX5	OMIM:183600
HP:0000153	Abnormality of the mouth	55120	FANCL	OMIM:614083
HP:0000153	Abnormality of the mouth	55120	FANCL	ORPHA:84
HP:0000153	Abnormality of the mouth	9319	TRIP13	OMIM:617598
HP:0000153	Abnormality of the mouth	9319	TRIP13	ORPHA:1052
HP:0000153	Abnormality of the mouth	25836	NIPBL	OMIM:122470
HP:0000153	Abnormality of the mouth	25836	NIPBL	ORPHA:199
HP:0000153	Abnormality of the mouth	2303	FOXC2	ORPHA:33001
HP:0000153	Abnormality of the mouth	2303	FOXC2	OMIM:153400
HP:0000153	Abnormality of the mouth	2317	FLNB	OMIM:272460
HP:0000153	Abnormality of the mouth	2317	FLNB	ORPHA:503
HP:0000153	Abnormality of the mouth	2317	FLNB	ORPHA:1190
HP:0000153	Abnormality of the mouth	2317	FLNB	OMIM:108721
HP:0000153	Abnormality of the mouth	2317	FLNB	OMIM:108720
HP:0000153	Abnormality of the mouth	2317	FLNB	OMIM:150250
HP:0000153	Abnormality of the mouth	54361	WNT4	OMIM:611812
HP:0000153	Abnormality of the mouth	54361	WNT4	ORPHA:247768
HP:0000153	Abnormality of the mouth	10262	SF3B4	ORPHA:245
HP:0000153	Abnormality of the mouth	10262	SF3B4	OMIM:154400
HP:0000153	Abnormality of the mouth	8295	TRRAP	OMIM:618454
HP:0000153	Abnormality of the mouth	29968	PSAT1	OMIM:616038
HP:0000153	Abnormality of the mouth	3736	KCNA1	ORPHA:1934
HP:0000153	Abnormality of the mouth	9091	PIGQ	ORPHA:1934
HP:0000153	Abnormality of the mouth	2775	GNAO1	ORPHA:1934
HP:0000153	Abnormality of the mouth	81603	TRIM8	ORPHA:1934
HP:0000153	Abnormality of the mouth	2902	GRIN1	ORPHA:1934
HP:0000153	Abnormality of the mouth	79751	SLC25A22	ORPHA:1934
HP:0000153	Abnormality of the mouth	150094	SIK1	ORPHA:1934
HP:0000153	Abnormality of the mouth	8573	CASK	ORPHA:1934
HP:0000153	Abnormality of the mouth	23312	DMXL2	ORPHA:1934
HP:0000153	Abnormality of the mouth	2917	GRM7	ORPHA:1934
HP:0000153	Abnormality of the mouth	11284	PNKP	ORPHA:1934
HP:0000153	Abnormality of the mouth	6326	SCN2A	ORPHA:1934
HP:0000153	Abnormality of the mouth	51227	PIGP	ORPHA:1934
HP:0000153	Abnormality of the mouth	6324	SCN1B	ORPHA:1934
HP:0000153	Abnormality of the mouth	4761	NEUROD2	ORPHA:1934
HP:0000153	Abnormality of the mouth	1801	DPH1	ORPHA:459061
HP:0000153	Abnormality of the mouth	10371	SEMA3A	ORPHA:478
HP:0000153	Abnormality of the mouth	23767	FLRT3	ORPHA:478
HP:0000153	Abnormality of the mouth	79625	NDNF	ORPHA:478
HP:0000153	Abnormality of the mouth	389549	FEZF1	ORPHA:478
HP:0000153	Abnormality of the mouth	1630	DCC	ORPHA:478
HP:0000153	Abnormality of the mouth	3730	ANOS1	ORPHA:478
HP:0000153	Abnormality of the mouth	6663	SOX10	ORPHA:478
HP:0000153	Abnormality of the mouth	285025	CCDC141	ORPHA:478
HP:0000153	Abnormality of the mouth	23384	SPECC1L	OMIM:600251
HP:0000153	Abnormality of the mouth	55869	HDAC8	OMIM:300882
HP:0000153	Abnormality of the mouth	55869	HDAC8	ORPHA:199
HP:0000153	Abnormality of the mouth	26128	KIFBP	ORPHA:66629
HP:0000153	Abnormality of the mouth	9126	SMC3	OMIM:610759
HP:0000153	Abnormality of the mouth	9126	SMC3	ORPHA:199
HP:0000153	Abnormality of the mouth	84068	SLC10A7	OMIM:618363
HP:0000153	Abnormality of the mouth	50619	DEF6	OMIM:619573
HP:0000153	Abnormality of the mouth	340665	CYP26C1	ORPHA:398189
HP:0000153	Abnormality of the mouth	84314	TMEM107	ORPHA:564
HP:0000153	Abnormality of the mouth	79867	TCTN2	ORPHA:564
HP:0000153	Abnormality of the mouth	79867	TCTN2	OMIM:613885
HP:0000153	Abnormality of the mouth	79600	TCTN1	ORPHA:564
HP:0000153	Abnormality of the mouth	57096	RPGRIP1	ORPHA:564
HP:0000153	Abnormality of the mouth	79848	CSPP1	ORPHA:564
HP:0000153	Abnormality of the mouth	80184	CEP290	ORPHA:564
HP:0000153	Abnormality of the mouth	80184	CEP290	OMIM:611134
HP:0000153	Abnormality of the mouth	80184	CEP290	OMIM:610188
HP:0000153	Abnormality of the mouth	57545	CC2D2A	ORPHA:564
HP:0000153	Abnormality of the mouth	57545	CC2D2A	OMIM:612284
HP:0000153	Abnormality of the mouth	91147	TMEM67	ORPHA:564
HP:0000153	Abnormality of the mouth	91147	TMEM67	OMIM:607361
HP:0000153	Abnormality of the mouth	79770	TXNDC15	ORPHA:564
HP:0000153	Abnormality of the mouth	372	ARCN1	OMIM:617164
HP:0000153	Abnormality of the mouth	8883	NAE1	OMIM:620210
HP:0000153	Abnormality of the mouth	4927	NUP88	ORPHA:994
HP:0000153	Abnormality of the mouth	7846	TUBA1A	ORPHA:994
HP:0000153	Abnormality of the mouth	4654	MYOD1	ORPHA:994
HP:0000153	Abnormality of the mouth	4654	MYOD1	OMIM:618975
HP:0000153	Abnormality of the mouth	5913	RAPSN	ORPHA:994
HP:0000153	Abnormality of the mouth	5913	RAPSN	OMIM:618388
HP:0000153	Abnormality of the mouth	6572	SLC18A3	ORPHA:994
HP:0000153	Abnormality of the mouth	285489	DOK7	ORPHA:994
HP:0000153	Abnormality of the mouth	5530	PPP3CA	OMIM:618265
HP:0000153	Abnormality of the mouth	57514	ARHGAP31	OMIM:100300
HP:0000153	Abnormality of the mouth	2254	FGF9	OMIM:612961
HP:0000153	Abnormality of the mouth	10413	YAP1	OMIM:120433
HP:0000153	Abnormality of the mouth	10653	SPINT2	OMIM:270420
HP:0000153	Abnormality of the mouth	2571	GAD1	OMIM:619124
HP:0000153	Abnormality of the mouth	55640	FLVCR2	OMIM:225790
HP:0000153	Abnormality of the mouth	90416	CCDC32	OMIM:619123
HP:0000153	Abnormality of the mouth	23169	SLC35D1	OMIM:269250
HP:0000153	Abnormality of the mouth	23169	SLC35D1	ORPHA:3144
HP:0000153	Abnormality of the mouth	22995	CEP152	OMIM:613823
HP:0000153	Abnormality of the mouth	4222	MEOX1	OMIM:214300
HP:0000153	Abnormality of the mouth	4222	MEOX1	ORPHA:2345
HP:0000153	Abnormality of the mouth	80267	EDEM3	OMIM:619493
HP:0000153	Abnormality of the mouth	1984	EIF5A	OMIM:619376
HP:0000153	Abnormality of the mouth	168667	BMPER	ORPHA:66637
HP:0000153	Abnormality of the mouth	168667	BMPER	OMIM:608022
HP:0000153	Abnormality of the mouth	124454	EARS2	OMIM:614924
HP:0000153	Abnormality of the mouth	3239	HOXD13	ORPHA:887
HP:0000153	Abnormality of the mouth	9897	WASHC5	ORPHA:7
HP:0000153	Abnormality of the mouth	9897	WASHC5	OMIM:220210
HP:0000153	Abnormality of the mouth	28952	CCDC22	ORPHA:7
HP:0000153	Abnormality of the mouth	6913	TBX15	OMIM:260660
HP:0000153	Abnormality of the mouth	6657	SOX2	ORPHA:3157
HP:0000153	Abnormality of the mouth	6658	SOX3	ORPHA:3157
HP:0000153	Abnormality of the mouth	10682	EBP	ORPHA:401973
HP:0000153	Abnormality of the mouth	2294	FOXF1	OMIM:265380
HP:0000153	Abnormality of the mouth	6399	TRAPPC2	ORPHA:93284
HP:0000153	Abnormality of the mouth	3728	JUP	ORPHA:158687
HP:0000153	Abnormality of the mouth	3636	INPPL1	ORPHA:3144
HP:0000153	Abnormality of the mouth	10992	SF3B2	OMIM:164210
HP:0000153	Abnormality of the mouth	4281	MID1	OMIM:300000
HP:0000153	Abnormality of the mouth	4281	MID1	ORPHA:2745
HP:0000153	Abnormality of the mouth	80232	WDR26	ORPHA:513456
HP:0000153	Abnormality of the mouth	80232	WDR26	OMIM:617616
HP:0000153	Abnormality of the mouth	92579	G6PC3	OMIM:612541
HP:0000153	Abnormality of the mouth	10459	MAD2L2	ORPHA:84
HP:0000153	Abnormality of the mouth	7516	XRCC2	ORPHA:84
HP:0000153	Abnormality of the mouth	29089	UBE2T	ORPHA:84
HP:0000153	Abnormality of the mouth	675	BRCA2	ORPHA:84
HP:0000153	Abnormality of the mouth	2177	FANCD2	ORPHA:84
HP:0000153	Abnormality of the mouth	2175	FANCA	ORPHA:84
HP:0000153	Abnormality of the mouth	2187	FANCB	ORPHA:84
HP:0000153	Abnormality of the mouth	2176	FANCC	ORPHA:84
HP:0000153	Abnormality of the mouth	2178	FANCE	ORPHA:84
HP:0000153	Abnormality of the mouth	2188	FANCF	ORPHA:84
HP:0000153	Abnormality of the mouth	2189	FANCG	ORPHA:84
HP:0000153	Abnormality of the mouth	5888	RAD51	ORPHA:84
HP:0000153	Abnormality of the mouth	5889	RAD51C	ORPHA:84
HP:0000153	Abnormality of the mouth	55159	RFWD3	ORPHA:84
HP:0000153	Abnormality of the mouth	83990	BRIP1	ORPHA:84
HP:0000153	Abnormality of the mouth	57697	FANCM	ORPHA:84
HP:0000153	Abnormality of the mouth	79728	PALB2	ORPHA:84
HP:0000153	Abnormality of the mouth	84464	SLX4	ORPHA:84
HP:0000153	Abnormality of the mouth	55215	FANCI	ORPHA:84
HP:0000153	Abnormality of the mouth	9184	BUB3	ORPHA:1052
HP:0000153	Abnormality of the mouth	701	BUB1B	ORPHA:1052
HP:0000153	Abnormality of the mouth	701	BUB1B	OMIM:257300
HP:0000153	Abnormality of the mouth	2615	LRRC32	OMIM:619074
HP:0000153	Abnormality of the mouth	392255	GDF6	OMIM:118100
HP:0000153	Abnormality of the mouth	392255	GDF6	ORPHA:2345
HP:0000153	Abnormality of the mouth	4519	MT-CYB	ORPHA:137675
HP:0000153	Abnormality of the mouth	54499	TMCO1	OMIM:213980
HP:0000153	Abnormality of the mouth	54499	TMCO1	ORPHA:1394
HP:0000153	Abnormality of the mouth	157570	ESCO2	ORPHA:3103
HP:0000153	Abnormality of the mouth	157570	ESCO2	OMIM:268300
HP:0000153	Abnormality of the mouth	78989	COLEC11	OMIM:265050
HP:0000153	Abnormality of the mouth	5324	PLAG1	ORPHA:397590
HP:0000153	Abnormality of the mouth	8091	HMGA2	ORPHA:397590
HP:0000153	Abnormality of the mouth	10324	KLHL41	OMIM:615731
HP:0000153	Abnormality of the mouth	2625	GATA3	ORPHA:2237
HP:0000153	Abnormality of the mouth	11023	VAX1	OMIM:614402
HP:0000153	Abnormality of the mouth	8195	MKKS	ORPHA:2473
HP:0000153	Abnormality of the mouth	9939	RBM8A	ORPHA:3320
HP:0000153	Abnormality of the mouth	9939	RBM8A	OMIM:274000
HP:0000153	Abnormality of the mouth	9573	GDF3	ORPHA:2345
HP:0000153	Abnormality of the mouth	1297	COL9A1	ORPHA:250984
HP:0000153	Abnormality of the mouth	1298	COL9A2	ORPHA:250984
HP:0000153	Abnormality of the mouth	1299	COL9A3	ORPHA:250984
HP:0000153	Abnormality of the mouth	84695	LOXL3	ORPHA:250984
HP:0000153	Abnormality of the mouth	1144	CHRND	OMIM:253290
HP:0000153	Abnormality of the mouth	1134	CHRNA1	OMIM:253290
HP:0000153	Abnormality of the mouth	5648	MASP1	OMIM:257920
HP:0000153	Abnormality of the mouth	29123	ANKRD11	ORPHA:2332
HP:0000153	Abnormality of the mouth	8092	ALX1	OMIM:613456
HP:0000153	Abnormality of the mouth	8092	ALX1	ORPHA:306542
HP:0000153	Abnormality of the mouth	4854	NOTCH3	OMIM:130720
HP:0000153	Abnormality of the mouth	5915	RARB	OMIM:615524
HP:0000153	Abnormality of the mouth	2122	MECOM	OMIM:616738
HP:0000153	Abnormality of the mouth	134701	RIPPLY2	ORPHA:2311
HP:0000153	Abnormality of the mouth	10683	DLL3	ORPHA:2311
HP:0000153	Abnormality of the mouth	3955	LFNG	ORPHA:2311
HP:0000153	Abnormality of the mouth	84667	HES7	ORPHA:2311
HP:0000153	Abnormality of the mouth	145873	MESP2	ORPHA:2311
HP:0000153	Abnormality of the mouth	1063	CENPF	OMIM:243605
HP:0000153	Abnormality of the mouth	23395	LARS2	OMIM:615300
HP:0000153	Abnormality of the mouth	10046	MAMLD1	ORPHA:95706
HP:0000153	Abnormality of the mouth	367	AR	ORPHA:95706
HP:0000153	Abnormality of the mouth	23476	BRD4	ORPHA:199
HP:0000153	Abnormality of the mouth	23233	EXOC6B	ORPHA:93359
HP:0000153	Abnormality of the mouth	3199	HOXA2	OMIM:612290
HP:0000153	Abnormality of the mouth	6911	TBX6	ORPHA:1797
HP:0000153	Abnormality of the mouth	202018	TAPT1	OMIM:616897
HP:0000153	Abnormality of the mouth	23247	KATNIP	OMIM:616784
HP:0000153	Abnormality of the mouth	59341	TRPV4	ORPHA:2635
HP:0000153	Abnormality of the mouth	55788	LMBRD1	ORPHA:79284
HP:0000153	Abnormality of the mouth	5430	POLR2A	OMIM:618603
HP:0000153	Abnormality of the mouth	23133	PHF8	OMIM:300263
HP:0000153	Abnormality of the mouth	9130	FAM50A	OMIM:300261
HP:0000153	Abnormality of the mouth	5885	RAD21	OMIM:614701
HP:0000153	Abnormality of the mouth	6418	SET	OMIM:618106
HP:0000153	Abnormality of the mouth	5575	PRKAR1B	OMIM:619680
HP:0000153	Abnormality of the mouth	8443	GNPAT	OMIM:222765
HP:0000153	Abnormality of the mouth	29998	BICRA	OMIM:619325
HP:0000153	Abnormality of the mouth	10220	GDF11	OMIM:619122
HP:0000153	Abnormality of the mouth	93986	FOXP2	ORPHA:209908
HP:0000153	Abnormality of the mouth	5604	MAP2K1	ORPHA:1340
HP:0000153	Abnormality of the mouth	5605	MAP2K2	ORPHA:1340
HP:0000153	Abnormality of the mouth	833	CARS1	OMIM:618891
HP:0000153	Abnormality of the mouth	51729	WBP11	OMIM:619227
HP:0000153	Abnormality of the mouth	3090	HIC1	ORPHA:531
HP:0000153	Abnormality of the mouth	5979	RET	OMIM:162300
HP:0000153	Abnormality of the mouth	7528	YY1	ORPHA:506358
HP:0000153	Abnormality of the mouth	7528	YY1	OMIM:617557
HP:0000153	Abnormality of the mouth	8450	CUL4B	OMIM:300354
HP:0000153	Abnormality of the mouth	8450	CUL4B	ORPHA:85293
HP:0000153	Abnormality of the mouth	23394	ADNP	ORPHA:404448
HP:0000153	Abnormality of the mouth	23394	ADNP	OMIM:615873
HP:0000153	Abnormality of the mouth	27316	RBMX	OMIM:300238
HP:0000153	Abnormality of the mouth	9759	HDAC4	OMIM:619797
HP:0000153	Abnormality of the mouth	6228	RPS23	OMIM:617412
HP:0000153	Abnormality of the mouth	5894	RAF1	OMIM:611554
HP:0000153	Abnormality of the mouth	5894	RAF1	ORPHA:648
HP:0000153	Abnormality of the mouth	84282	RNF135	ORPHA:137634
HP:0000153	Abnormality of the mouth	5457	POU4F1	ORPHA:314647
HP:0000153	Abnormality of the mouth	23261	CAMTA1	ORPHA:314647
HP:0000153	Abnormality of the mouth	23261	CAMTA1	OMIM:614756
HP:0000153	Abnormality of the mouth	5745	PTH1R	OMIM:600002
HP:0000153	Abnormality of the mouth	57520	HECW2	OMIM:617268
HP:0000153	Abnormality of the mouth	79639	TMEM53	OMIM:619727
HP:0000153	Abnormality of the mouth	4758	NEU1	ORPHA:812
HP:0000153	Abnormality of the mouth	1301	COL11A1	OMIM:154780
HP:0000153	Abnormality of the mouth	1301	COL11A1	ORPHA:560
HP:0000153	Abnormality of the mouth	56992	KIF15	ORPHA:261323
HP:0000153	Abnormality of the mouth	23221	RHOBTB2	OMIM:618004
HP:0000153	Abnormality of the mouth	57492	ARID1B	OMIM:135900
HP:0000153	Abnormality of the mouth	57492	ARID1B	ORPHA:1465
HP:0000153	Abnormality of the mouth	24140	FTSJ1	OMIM:309549
HP:0000153	Abnormality of the mouth	6601	SMARCC2	OMIM:618362
HP:0000153	Abnormality of the mouth	6601	SMARCC2	ORPHA:1465
HP:0000153	Abnormality of the mouth	4052	LTBP1	OMIM:619451
HP:0000153	Abnormality of the mouth	3899	AFF3	OMIM:619297
HP:0000153	Abnormality of the mouth	3643	INSR	OMIM:246200
HP:0000153	Abnormality of the mouth	6597	SMARCA4	ORPHA:1465
HP:0000153	Abnormality of the mouth	6597	SMARCA4	OMIM:614609
HP:0000153	Abnormality of the mouth	6598	SMARCB1	ORPHA:1465
HP:0000153	Abnormality of the mouth	8289	ARID1A	ORPHA:1465
HP:0000153	Abnormality of the mouth	8289	ARID1A	OMIM:614607
HP:0000153	Abnormality of the mouth	5977	DPF2	ORPHA:1465
HP:0000153	Abnormality of the mouth	5977	DPF2	OMIM:618027
HP:0000153	Abnormality of the mouth	6605	SMARCE1	ORPHA:1465
HP:0000153	Abnormality of the mouth	6605	SMARCE1	OMIM:616938
HP:0000153	Abnormality of the mouth	6664	SOX11	ORPHA:1465
HP:0000153	Abnormality of the mouth	2770	GNAI1	OMIM:619854
HP:0000153	Abnormality of the mouth	9820	CUL7	OMIM:273750
HP:0000153	Abnormality of the mouth	4054	LTBP3	ORPHA:969
HP:0000153	Abnormality of the mouth	83550	GPR101	ORPHA:963
HP:0000153	Abnormality of the mouth	9049	AIP	ORPHA:963
HP:0000153	Abnormality of the mouth	2717	GLA	ORPHA:324
HP:0000153	Abnormality of the mouth	1009	CDH11	OMIM:211380
HP:0000153	Abnormality of the mouth	25942	SIN3A	ORPHA:94065
HP:0000153	Abnormality of the mouth	25942	SIN3A	OMIM:613406
HP:0000153	Abnormality of the mouth	9839	ZEB2	ORPHA:261552
HP:0000153	Abnormality of the mouth	9839	ZEB2	ORPHA:261537
HP:0000153	Abnormality of the mouth	10524	KAT5	OMIM:619103
HP:0000153	Abnormality of the mouth	175	AGA	OMIM:208400
HP:0000153	Abnormality of the mouth	3782	KCNN3	OMIM:618658
HP:0000153	Abnormality of the mouth	10522	DEAF1	OMIM:615828
HP:0000153	Abnormality of the mouth	81620	CDT1	OMIM:613804
HP:0000153	Abnormality of the mouth	760	CA2	ORPHA:2785
HP:0000153	Abnormality of the mouth	26227	PHGDH	OMIM:256520
HP:0000153	Abnormality of the mouth	6611	SMS	ORPHA:3063
HP:0000153	Abnormality of the mouth	6611	SMS	OMIM:309583
HP:0000153	Abnormality of the mouth	56006	SMG9	OMIM:616920
HP:0000153	Abnormality of the mouth	2517	FUCA1	OMIM:230000
HP:0000153	Abnormality of the mouth	6804	STX1A	ORPHA:904
HP:0000153	Abnormality of the mouth	7461	CLIP2	ORPHA:904
HP:0000153	Abnormality of the mouth	84277	DNAJC30	ORPHA:904
HP:0000153	Abnormality of the mouth	8468	FKBP6	ORPHA:904
HP:0000153	Abnormality of the mouth	5982	RFC2	ORPHA:904
HP:0000153	Abnormality of the mouth	2969	GTF2I	ORPHA:904
HP:0000153	Abnormality of the mouth	3984	LIMK1	ORPHA:904
HP:0000153	Abnormality of the mouth	9569	GTF2IRD1	ORPHA:904
HP:0000153	Abnormality of the mouth	155382	VPS37D	ORPHA:904
HP:0000153	Abnormality of the mouth	155368	METTL27	ORPHA:904
HP:0000153	Abnormality of the mouth	114049	BUD23	ORPHA:904
HP:0000153	Abnormality of the mouth	7458	EIF4H	ORPHA:904
HP:0000153	Abnormality of the mouth	84163	GTF2IRD2	ORPHA:904
HP:0000153	Abnormality of the mouth	9275	BCL7B	ORPHA:904
HP:0000153	Abnormality of the mouth	26608	TBL2	ORPHA:904
HP:0000153	Abnormality of the mouth	653361	NCF1	ORPHA:904
HP:0000153	Abnormality of the mouth	135886	TMEM270	ORPHA:904
HP:0000153	Abnormality of the mouth	51085	MLXIPL	ORPHA:904
HP:0000153	Abnormality of the mouth	51085	MLXIPL	OMIM:194050
HP:0000153	Abnormality of the mouth	9031	BAZ1B	ORPHA:904
HP:0000153	Abnormality of the mouth	2006	ELN	ORPHA:904
HP:0000153	Abnormality of the mouth	2006	ELN	OMIM:194050
HP:0000153	Abnormality of the mouth	10060	ABCC9	OMIM:239850
HP:0000153	Abnormality of the mouth	23137	SMC5	OMIM:620185
HP:0000153	Abnormality of the mouth	26137	ZBTB20	OMIM:259050
HP:0000153	Abnormality of the mouth	79813	EHMT1	ORPHA:261652
HP:0000153	Abnormality of the mouth	58508	KMT2C	ORPHA:261652
HP:0000153	Abnormality of the mouth	55617	TASP1	OMIM:618950
HP:0000153	Abnormality of the mouth	23067	SETD1B	OMIM:619000
HP:0000153	Abnormality of the mouth	7358	UGDH	OMIM:618792
HP:0000153	Abnormality of the mouth	92335	STRADA	OMIM:611087
HP:0000153	Abnormality of the mouth	55691	FRMD4A	ORPHA:466688
HP:0000153	Abnormality of the mouth	10430	TMEM147	OMIM:620075
HP:0000153	Abnormality of the mouth	139285	AMER1	OMIM:300373
HP:0000153	Abnormality of the mouth	1893	ECM1	ORPHA:530
HP:0000153	Abnormality of the mouth	3423	IDS	OMIM:309900
HP:0000153	Abnormality of the mouth	9487	PIGL	OMIM:280000
HP:0000153	Abnormality of the mouth	84168	ANTXR1	OMIM:230740
HP:0000153	Abnormality of the mouth	54187	NANS	OMIM:610442
HP:0000153	Abnormality of the mouth	22800	RRAS2	ORPHA:648
HP:0000153	Abnormality of the mouth	8216	LZTR1	ORPHA:648
HP:0000153	Abnormality of the mouth	6016	RIT1	ORPHA:648
HP:0000153	Abnormality of the mouth	6237	RRAS	ORPHA:648
HP:0000153	Abnormality of the mouth	22808	MRAS	ORPHA:648
HP:0000153	Abnormality of the mouth	3845	KRAS	ORPHA:648
HP:0000153	Abnormality of the mouth	200734	SPRED2	ORPHA:648
HP:0000153	Abnormality of the mouth	6654	SOS1	ORPHA:648
HP:0000153	Abnormality of the mouth	6655	SOS2	ORPHA:648
HP:0000153	Abnormality of the mouth	5781	PTPN11	ORPHA:648
HP:0000153	Abnormality of the mouth	5922	RASA2	ORPHA:648
HP:0000153	Abnormality of the mouth	6513	SLC2A1	ORPHA:1942
HP:0000153	Abnormality of the mouth	8831	SYNGAP1	ORPHA:1942
HP:0000153	Abnormality of the mouth	1173	AP2M1	ORPHA:1942
HP:0000153	Abnormality of the mouth	6323	SCN1A	ORPHA:1942
HP:0000153	Abnormality of the mouth	340533	NEXMIF	ORPHA:1942
HP:0000153	Abnormality of the mouth	1106	CHD2	ORPHA:1942
HP:0000153	Abnormality of the mouth	6529	SLC6A1	ORPHA:1942
HP:0000153	Abnormality of the mouth	4668	NAGA	OMIM:609242
HP:0000153	Abnormality of the mouth	27077	B9D1	OMIM:617120
HP:0000153	Abnormality of the mouth	55331	ACER3	OMIM:617762
HP:0000153	Abnormality of the mouth	2702	GJA5	OMIM:612474
HP:0000153	Abnormality of the mouth	2703	GJA8	OMIM:612474
HP:0000153	Abnormality of the mouth	5696	PSMB8	OMIM:256040
HP:0000153	Abnormality of the mouth	10075	HUWE1	OMIM:309590
HP:0000153	Abnormality of the mouth	65250	CPLANE1	OMIM:277170
HP:0000153	Abnormality of the mouth	65250	CPLANE1	ORPHA:2754
HP:0000153	Abnormality of the mouth	54903	MKS1	OMIM:249000
HP:0000153	Abnormality of the mouth	153241	CEP120	OMIM:616300
HP:0000153	Abnormality of the mouth	26005	C2CD3	ORPHA:434179
HP:0000153	Abnormality of the mouth	26005	C2CD3	OMIM:615948
HP:0000153	Abnormality of the mouth	9851	KIAA0753	OMIM:617127
HP:0000153	Abnormality of the mouth	9851	KIAA0753	ORPHA:2754
HP:0000153	Abnormality of the mouth	4208	MEF2C	OMIM:613443
HP:0000153	Abnormality of the mouth	26123	TCTN3	OMIM:614815
HP:0000153	Abnormality of the mouth	26123	TCTN3	OMIM:258860
HP:0000153	Abnormality of the mouth	26123	TCTN3	ORPHA:2754
HP:0000153	Abnormality of the mouth	79583	TMEM231	ORPHA:2752
HP:0000153	Abnormality of the mouth	10210	TOPORS	ORPHA:2754
HP:0000153	Abnormality of the mouth	5147	PDE6D	ORPHA:2754
HP:0000153	Abnormality of the mouth	51259	TMEM216	ORPHA:2754
HP:0000153	Abnormality of the mouth	317662	FAM149B1	ORPHA:2754
HP:0000153	Abnormality of the mouth	55149	MTPAP	ORPHA:254343
HP:0000153	Abnormality of the mouth	10382	TUBB4A	ORPHA:98805
HP:0000153	Abnormality of the mouth	2548	GAA	ORPHA:308552
HP:0000153	Abnormality of the mouth	23400	ATP13A2	ORPHA:306674
HP:0000153	Abnormality of the mouth	57679	ALS2	OMIM:205100
HP:0000153	Abnormality of the mouth	57679	ALS2	OMIM:606353
HP:0000153	Abnormality of the mouth	79628	SH3TC2	ORPHA:99949
HP:0000153	Abnormality of the mouth	1906	EDN1	ORPHA:137888
HP:0000153	Abnormality of the mouth	5332	PLCB4	ORPHA:137888
HP:0000153	Abnormality of the mouth	2773	GNAI3	ORPHA:137888
HP:0000153	Abnormality of the mouth	81846	SBF2	ORPHA:99956
HP:0000153	Abnormality of the mouth	80144	FRAS1	OMIM:219000
HP:0000153	Abnormality of the mouth	10755	GIPC1	ORPHA:98897
HP:0000153	Abnormality of the mouth	100996717	NOTCH2NLC	ORPHA:98897
HP:0000153	Abnormality of the mouth	699	BUB1	OMIM:620183
HP:0000153	Abnormality of the mouth	4488	MSX2	OMIM:604757
HP:0000153	Abnormality of the mouth	6628	SNRPB	OMIM:117650
HP:0000153	Abnormality of the mouth	10526	IPO8	OMIM:619472
HP:0000153	Abnormality of the mouth	1859	DYRK1A	ORPHA:268261
HP:0000153	Abnormality of the mouth	6949	TCOF1	OMIM:154500
HP:0000153	Abnormality of the mouth	1280	COL2A1	ORPHA:93316
HP:0000153	Abnormality of the mouth	7314	UBB	ORPHA:99772
HP:0000153	Abnormality of the mouth	57822	GRHL3	ORPHA:99772
HP:0000153	Abnormality of the mouth	6135	RPL11	ORPHA:124
HP:0000153	Abnormality of the mouth	6138	RPL15	ORPHA:124
HP:0000153	Abnormality of the mouth	6229	RPS24	ORPHA:124
HP:0000153	Abnormality of the mouth	6125	RPL5	ORPHA:124
HP:0000153	Abnormality of the mouth	6204	RPS10	ORPHA:124
HP:0000153	Abnormality of the mouth	6224	RPS20	ORPHA:124
HP:0000153	Abnormality of the mouth	6165	RPL35A	ORPHA:124
HP:0000153	Abnormality of the mouth	2623	GATA1	ORPHA:124
HP:0000153	Abnormality of the mouth	6223	RPS19	ORPHA:124
HP:0000153	Abnormality of the mouth	6232	RPS27	ORPHA:124
HP:0000153	Abnormality of the mouth	6231	RPS26	ORPHA:124
HP:0000153	Abnormality of the mouth	11224	RPL35	ORPHA:124
HP:0000153	Abnormality of the mouth	6160	RPL31	ORPHA:124
HP:0000153	Abnormality of the mouth	6218	RPS17	ORPHA:124
HP:0000153	Abnormality of the mouth	6201	RPS7	ORPHA:124
HP:0000153	Abnormality of the mouth	6155	RPL27	ORPHA:124
HP:0000153	Abnormality of the mouth	6154	RPL26	ORPHA:124
HP:0000153	Abnormality of the mouth	6210	RPS15A	ORPHA:124
HP:0000153	Abnormality of the mouth	90121	TSR2	ORPHA:124
HP:0000153	Abnormality of the mouth	6141	RPL18	ORPHA:124
HP:0000153	Abnormality of the mouth	6235	RPS29	ORPHA:124
HP:0000153	Abnormality of the mouth	6234	RPS28	ORPHA:124
HP:0000153	Abnormality of the mouth	51816	ADA2	ORPHA:124
HP:0000153	Abnormality of the mouth	83479	DDX59	ORPHA:2919
HP:0000153	Abnormality of the mouth	7043	TGFB3	OMIM:615582
HP:0000153	Abnormality of the mouth	8882	ZPR1	OMIM:619321
HP:0000153	Abnormality of the mouth	55033	FKBP14	OMIM:614557
HP:0000153	Abnormality of the mouth	6602	SMARCD1	OMIM:618779
HP:0000153	Abnormality of the mouth	60386	SLC25A19	ORPHA:99742
HP:0000153	Abnormality of the mouth	9896	FIG4	OMIM:216340
HP:0000153	Abnormality of the mouth	1717	DHCR7	OMIM:270400
HP:0000153	Abnormality of the mouth	2697	GJA1	OMIM:218400
HP:0000153	Abnormality of the mouth	2697	GJA1	OMIM:164200
HP:0000153	Abnormality of the mouth	2697	GJA1	ORPHA:2710
HP:0000153	Abnormality of the mouth	171023	ASXL1	OMIM:605039
HP:0000153	Abnormality of the mouth	285590	SH3PXD2B	OMIM:249420
HP:0000153	Abnormality of the mouth	170302	ARX	OMIM:300004
HP:0000153	Abnormality of the mouth	55906	ZC4H2	OMIM:314580
HP:0000153	Abnormality of the mouth	473	RERE	OMIM:616975
HP:0000153	Abnormality of the mouth	129563	DIS3L2	ORPHA:2849
HP:0000153	Abnormality of the mouth	8481	OFD1	ORPHA:2750
HP:0000153	Abnormality of the mouth	2799	GNS	OMIM:252940
HP:0000153	Abnormality of the mouth	26040	SETBP1	ORPHA:798
HP:0000153	Abnormality of the mouth	526	ATP6V1B2	ORPHA:79500
HP:0000153	Abnormality of the mouth	57465	TBC1D24	ORPHA:79500
HP:0000153	Abnormality of the mouth	546	ATRX	OMIM:309580
HP:0000153	Abnormality of the mouth	23065	EMC1	OMIM:616875
HP:0000153	Abnormality of the mouth	55697	VAC14	ORPHA:3472
HP:0000153	Abnormality of the mouth	53834	FGFRL1	OMIM:194190
HP:0000153	Abnormality of the mouth	1487	CTBP1	OMIM:194190
HP:0000153	Abnormality of the mouth	3954	LETM1	OMIM:194190
HP:0000153	Abnormality of the mouth	7468	NSD2	OMIM:194190
HP:0000153	Abnormality of the mouth	10815	CPLX1	OMIM:194190
HP:0000153	Abnormality of the mouth	117581	TWIST2	OMIM:200110
HP:0000153	Abnormality of the mouth	271	AMPD2	OMIM:615809
HP:0000153	Abnormality of the mouth	7291	TWIST1	ORPHA:794
HP:0000153	Abnormality of the mouth	7291	TWIST1	OMIM:101400
HP:0000153	Abnormality of the mouth	2263	FGFR2	ORPHA:794
HP:0000153	Abnormality of the mouth	2263	FGFR2	ORPHA:1555
HP:0000153	Abnormality of the mouth	2263	FGFR2	OMIM:123790
HP:0000153	Abnormality of the mouth	2263	FGFR2	ORPHA:87
HP:0000153	Abnormality of the mouth	2263	FGFR2	ORPHA:207
HP:0000153	Abnormality of the mouth	2263	FGFR2	OMIM:101400
HP:0000153	Abnormality of the mouth	2263	FGFR2	OMIM:101200
HP:0000153	Abnormality of the mouth	2261	FGFR3	ORPHA:794
HP:0000153	Abnormality of the mouth	6197	RPS6KA3	ORPHA:192
HP:0000153	Abnormality of the mouth	6197	RPS6KA3	OMIM:303600
HP:0000153	Abnormality of the mouth	6909	TBX2	OMIM:618223
HP:0000153	Abnormality of the mouth	56896	DPYSL5	OMIM:619435
HP:0000153	Abnormality of the mouth	2892	GRIA3	ORPHA:364028
HP:0000153	Abnormality of the mouth	3590	IL11RA	OMIM:614188
HP:0000153	Abnormality of the mouth	8506	CNTNAP1	OMIM:618186
HP:0000153	Abnormality of the mouth	9524	TECR	OMIM:614020
HP:0000153	Abnormality of the mouth	1387	CREBBP	OMIM:180849
HP:0000153	Abnormality of the mouth	1387	CREBBP	ORPHA:353281
HP:0000153	Abnormality of the mouth	1387	CREBBP	ORPHA:353277
HP:0000153	Abnormality of the mouth	22931	RAB18	OMIM:614222
HP:0000153	Abnormality of the mouth	8924	HERC2	OMIM:615516
HP:0000153	Abnormality of the mouth	79005	SCNM1	OMIM:620107
HP:0000153	Abnormality of the mouth	5728	PTEN	ORPHA:109
HP:0000153	Abnormality of the mouth	2200	FBN1	OMIM:608328
HP:0000153	Abnormality of the mouth	2200	FBN1	OMIM:154700
HP:0000153	Abnormality of the mouth	91754	NEK9	OMIM:617022
HP:0000153	Abnormality of the mouth	8567	MADD	OMIM:619004
HP:0000153	Abnormality of the mouth	63916	ELMO2	ORPHA:3019
HP:0000153	Abnormality of the mouth	57038	RARS2	OMIM:611523
HP:0000153	Abnormality of the mouth	4952	OCRL	ORPHA:534
HP:0000153	Abnormality of the mouth	55343	SLC35C1	ORPHA:99843
HP:0000153	Abnormality of the mouth	6660	SOX5	ORPHA:313892
HP:0000153	Abnormality of the mouth	1376	CPT2	OMIM:608836
HP:0000153	Abnormality of the mouth	6497	SKI	OMIM:182212
HP:0000153	Abnormality of the mouth	6452	SH3BP2	OMIM:118400
HP:0000153	Abnormality of the mouth	1513	CTSK	OMIM:265800
HP:0000153	Abnormality of the mouth	64324	NSD1	OMIM:117550
HP:0000153	Abnormality of the mouth	8260	NAA10	OMIM:300855
HP:0000153	Abnormality of the mouth	23184	MESD	OMIM:618644
HP:0000153	Abnormality of the mouth	91137	SLC25A46	OMIM:616505
HP:0000153	Abnormality of the mouth	284058	KANSL1	OMIM:610443
HP:0000153	Abnormality of the mouth	7476	WNT7A	OMIM:276820
HP:0000153	Abnormality of the mouth	2077	ERF	ORPHA:207
HP:0000153	Abnormality of the mouth	147372	CCBE1	OMIM:235510
HP:0000153	Abnormality of the mouth	7474	WNT5A	OMIM:180700
HP:0000153	Abnormality of the mouth	1855	DVL1	OMIM:180700
HP:0000153	Abnormality of the mouth	8604	SLC25A12	OMIM:612949
HP:0000153	Abnormality of the mouth	3265	HRAS	ORPHA:3071
HP:0000153	Abnormality of the mouth	2316	FLNA	ORPHA:555877
HP:0000153	Abnormality of the mouth	860	RUNX2	OMIM:119600
HP:0000153	Abnormality of the mouth	58497	PRUNE1	OMIM:617481
HP:0000153	Abnormality of the mouth	10297	APC2	OMIM:617169
HP:0000153	Abnormality of the mouth	672	BRCA1	OMIM:617883
HP:0000153	Abnormality of the mouth	1954	MEGF8	OMIM:614976
HP:0000153	Abnormality of the mouth	7227	TRPS1	OMIM:190350
HP:0000153	Abnormality of the mouth	2719	GPC3	OMIM:312870
HP:0000153	Abnormality of the mouth	165	AEBP1	ORPHA:536532
HP:0000153	Abnormality of the mouth	81794	ADAMTS10	OMIM:277600
HP:0000153	Abnormality of the mouth	5566	PRKACA	ORPHA:289
HP:0000153	Abnormality of the mouth	2735	GLI1	ORPHA:289
HP:0000153	Abnormality of the mouth	2121	EVC	ORPHA:289
HP:0000153	Abnormality of the mouth	2121	EVC	ORPHA:952
HP:0000153	Abnormality of the mouth	51626	DYNC2LI1	ORPHA:289
HP:0000153	Abnormality of the mouth	132884	EVC2	ORPHA:289
HP:0000153	Abnormality of the mouth	132884	EVC2	ORPHA:952
HP:0000153	Abnormality of the mouth	1281	COL3A1	ORPHA:286
HP:0000153	Abnormality of the mouth	54101	RIPK4	ORPHA:1401
HP:0000153	Abnormality of the mouth	10716	TBR1	ORPHA:1617
HP:0000153	Abnormality of the mouth	9786	KIAA0586	OMIM:616546
HP:0000153	Abnormality of the mouth	1147	CHUK	OMIM:619339
HP:0000153	Abnormality of the mouth	9894	TELO2	OMIM:616954
HP:0000153	Abnormality of the mouth	55081	IFT57	OMIM:617927
HP:0000153	Abnormality of the mouth	10225	CD96	ORPHA:1308
HP:0000153	Abnormality of the mouth	10225	CD96	OMIM:211750
HP:0000153	Abnormality of the mouth	3476	IGBP1	OMIM:300472
HP:0000153	Abnormality of the mouth	9949	AMMECR1	OMIM:300990
HP:0000153	Abnormality of the mouth	2737	GLI3	ORPHA:672
HP:0000153	Abnormality of the mouth	4088	SMAD3	ORPHA:284984
HP:0000153	Abnormality of the mouth	4088	SMAD3	OMIM:613795
HP:0000153	Abnormality of the mouth	274	BIN1	ORPHA:169186
HP:0000153	Abnormality of the mouth	10290	SPEG	ORPHA:169186
HP:0000153	Abnormality of the mouth	10290	SPEG	OMIM:615959
HP:0000153	Abnormality of the mouth	7273	TTN	ORPHA:169186
HP:0000153	Abnormality of the mouth	85465	SELENOI	ORPHA:506353
HP:0000153	Abnormality of the mouth	85465	SELENOI	OMIM:618768
HP:0000153	Abnormality of the mouth	6477	SIAH1	OMIM:619314
HP:0000153	Abnormality of the mouth	23135	KDM6B	OMIM:618505
HP:0000153	Abnormality of the mouth	23498	HAAO	OMIM:617660
HP:0000153	Abnormality of the mouth	6651	SON	OMIM:617140
HP:0000153	Abnormality of the mouth	6651	SON	ORPHA:500150
HP:0000153	Abnormality of the mouth	3664	IRF6	OMIM:119500
HP:0000153	Abnormality of the mouth	3664	IRF6	OMIM:119300
HP:0000153	Abnormality of the mouth	80055	PGAP1	OMIM:615802
HP:0000153	Abnormality of the mouth	84892	POMGNT2	ORPHA:899
HP:0000153	Abnormality of the mouth	148789	B3GALNT2	ORPHA:899
HP:0000153	Abnormality of the mouth	79147	FKRP	ORPHA:899
HP:0000153	Abnormality of the mouth	9215	LARGE1	ORPHA:899
HP:0000153	Abnormality of the mouth	1282	COL4A1	ORPHA:899
HP:0000153	Abnormality of the mouth	729920	CRPPA	ORPHA:899
HP:0000153	Abnormality of the mouth	10329	RXYLT1	ORPHA:899
HP:0000153	Abnormality of the mouth	1605	DAG1	ORPHA:899
HP:0000153	Abnormality of the mouth	11041	B4GAT1	ORPHA:899
HP:0000153	Abnormality of the mouth	10585	POMT1	ORPHA:899
HP:0000153	Abnormality of the mouth	84197	POMK	ORPHA:899
HP:0000153	Abnormality of the mouth	2218	FKTN	ORPHA:899
HP:0000153	Abnormality of the mouth	55624	POMGNT1	ORPHA:899
HP:0000153	Abnormality of the mouth	79068	FTO	OMIM:612938
HP:0000153	Abnormality of the mouth	1741	DLG3	OMIM:300850
HP:0000153	Abnormality of the mouth	10735	STAG2	OMIM:301022
HP:0000153	Abnormality of the mouth	10735	STAG2	ORPHA:93925
HP:0000153	Abnormality of the mouth	10735	STAG2	ORPHA:220386
HP:0000153	Abnormality of the mouth	84992	PIGY	ORPHA:247262
HP:0000153	Abnormality of the mouth	84720	PIGO	ORPHA:247262
HP:0000153	Abnormality of the mouth	93210	PGAP3	ORPHA:247262
HP:0000153	Abnormality of the mouth	284098	PIGW	ORPHA:247262
HP:0000153	Abnormality of the mouth	27315	PGAP2	ORPHA:247262
HP:0000153	Abnormality of the mouth	55650	PIGV	ORPHA:247262
HP:0000153	Abnormality of the mouth	80204	FBXO11	OMIM:618089
HP:0000153	Abnormality of the mouth	1108	CHD4	OMIM:617159
HP:0000153	Abnormality of the mouth	64131	XYLT1	OMIM:615777
HP:0000153	Abnormality of the mouth	5000	ORC4	ORPHA:2554
HP:0000153	Abnormality of the mouth	23594	ORC6	ORPHA:2554
HP:0000153	Abnormality of the mouth	8318	CDC45	ORPHA:2554
HP:0000153	Abnormality of the mouth	990	CDC6	ORPHA:2554
HP:0000153	Abnormality of the mouth	4998	ORC1	ORPHA:2554
HP:0000153	Abnormality of the mouth	51053	GMNN	ORPHA:2554
HP:0000153	Abnormality of the mouth	444	ASPH	OMIM:601552
HP:0000153	Abnormality of the mouth	6469	SHH	OMIM:142945
HP:0000153	Abnormality of the mouth	6469	SHH	ORPHA:93926
HP:0000153	Abnormality of the mouth	6469	SHH	ORPHA:93924
HP:0000153	Abnormality of the mouth	6469	SHH	ORPHA:93925
HP:0000153	Abnormality of the mouth	6469	SHH	ORPHA:220386
HP:0000153	Abnormality of the mouth	9401	RECQL4	OMIM:218600
HP:0000153	Abnormality of the mouth	5422	POLA1	OMIM:301030
HP:0000153	Abnormality of the mouth	10484	SEC23A	OMIM:607812
HP:0000153	Abnormality of the mouth	652	BMP4	OMIM:607932
HP:0000153	Abnormality of the mouth	633	BGN	OMIM:300989
HP:0000153	Abnormality of the mouth	80776	B9D2	OMIM:614175
HP:0000153	Abnormality of the mouth	28514	DLL1	ORPHA:93926
HP:0000153	Abnormality of the mouth	28514	DLL1	ORPHA:93924
HP:0000153	Abnormality of the mouth	28514	DLL1	ORPHA:93925
HP:0000153	Abnormality of the mouth	28514	DLL1	ORPHA:220386
HP:0000153	Abnormality of the mouth	2253	FGF8	ORPHA:93926
HP:0000153	Abnormality of the mouth	2253	FGF8	ORPHA:93924
HP:0000153	Abnormality of the mouth	2253	FGF8	ORPHA:93925
HP:0000153	Abnormality of the mouth	2253	FGF8	ORPHA:220386
HP:0000153	Abnormality of the mouth	6496	SIX3	ORPHA:93926
HP:0000153	Abnormality of the mouth	6496	SIX3	ORPHA:93924
HP:0000153	Abnormality of the mouth	6496	SIX3	ORPHA:93925
HP:0000153	Abnormality of the mouth	6496	SIX3	ORPHA:220386
HP:0000153	Abnormality of the mouth	6496	SIX3	OMIM:157170
HP:0000153	Abnormality of the mouth	7050	TGIF1	ORPHA:93926
HP:0000153	Abnormality of the mouth	7050	TGIF1	ORPHA:93924
HP:0000153	Abnormality of the mouth	7050	TGIF1	ORPHA:93925
HP:0000153	Abnormality of the mouth	7050	TGIF1	ORPHA:220386
HP:0000153	Abnormality of the mouth	4838	NODAL	ORPHA:93926
HP:0000153	Abnormality of the mouth	4838	NODAL	ORPHA:93924
HP:0000153	Abnormality of the mouth	4838	NODAL	ORPHA:93925
HP:0000153	Abnormality of the mouth	4838	NODAL	ORPHA:220386
HP:0000153	Abnormality of the mouth	6491	STIL	ORPHA:93926
HP:0000153	Abnormality of the mouth	6491	STIL	ORPHA:93924
HP:0000153	Abnormality of the mouth	6491	STIL	ORPHA:93925
HP:0000153	Abnormality of the mouth	6491	STIL	ORPHA:220386
HP:0000153	Abnormality of the mouth	2619	GAS1	ORPHA:93926
HP:0000153	Abnormality of the mouth	2619	GAS1	ORPHA:93924
HP:0000153	Abnormality of the mouth	2619	GAS1	ORPHA:93925
HP:0000153	Abnormality of the mouth	2619	GAS1	ORPHA:220386
HP:0000153	Abnormality of the mouth	84976	DISP1	ORPHA:93926
HP:0000153	Abnormality of the mouth	84976	DISP1	ORPHA:93924
HP:0000153	Abnormality of the mouth	84976	DISP1	ORPHA:93925
HP:0000153	Abnormality of the mouth	84976	DISP1	ORPHA:220386
HP:0000153	Abnormality of the mouth	2736	GLI2	ORPHA:93926
HP:0000153	Abnormality of the mouth	2736	GLI2	ORPHA:93924
HP:0000153	Abnormality of the mouth	2736	GLI2	ORPHA:93925
HP:0000153	Abnormality of the mouth	2736	GLI2	ORPHA:220386
HP:0000153	Abnormality of the mouth	8928	FOXH1	ORPHA:93926
HP:0000153	Abnormality of the mouth	8928	FOXH1	ORPHA:93924
HP:0000153	Abnormality of the mouth	8928	FOXH1	ORPHA:93925
HP:0000153	Abnormality of the mouth	8928	FOXH1	ORPHA:220386
HP:0000153	Abnormality of the mouth	5727	PTCH1	ORPHA:93926
HP:0000153	Abnormality of the mouth	5727	PTCH1	ORPHA:93924
HP:0000153	Abnormality of the mouth	5727	PTCH1	ORPHA:93925
HP:0000153	Abnormality of the mouth	5727	PTCH1	ORPHA:220386
HP:0000153	Abnormality of the mouth	50937	CDON	ORPHA:93926
HP:0000153	Abnormality of the mouth	50937	CDON	ORPHA:93924
HP:0000153	Abnormality of the mouth	50937	CDON	ORPHA:93925
HP:0000153	Abnormality of the mouth	50937	CDON	ORPHA:220386
HP:0000153	Abnormality of the mouth	2260	FGFR1	ORPHA:93924
HP:0000153	Abnormality of the mouth	2260	FGFR1	ORPHA:220386
HP:0000153	Abnormality of the mouth	124512	METTL23	OMIM:615942
HP:0000153	Abnormality of the mouth	23007	PLCH1	ORPHA:93925
HP:0000153	Abnormality of the mouth	6638	SNRPN	ORPHA:177907
HP:0000153	Abnormality of the mouth	11285	B4GALT7	OMIM:130070
HP:0000153	Abnormality of the mouth	23347	SMCHD1	ORPHA:2250
HP:0000153	Abnormality of the mouth	6905	TBCE	OMIM:241410
HP:0000153	Abnormality of the mouth	63895	PIEZO2	OMIM:114300
HP:0000153	Abnormality of the mouth	63895	PIEZO2	ORPHA:2461
HP:0000153	Abnormality of the mouth	29895	MYL11	OMIM:619110
HP:0000153	Abnormality of the mouth	9791	PTDSS1	ORPHA:2658
HP:0000153	Abnormality of the mouth	8452	CUL3	OMIM:619239
HP:0000153	Abnormality of the mouth	246329	STAC3	ORPHA:168572
HP:0000153	Abnormality of the mouth	8085	KMT2D	OMIM:620186
HP:0000153	Abnormality of the mouth	10907	TXNL4A	OMIM:608572
HP:0000153	Abnormality of the mouth	79796	ALG9	ORPHA:79328
HP:0000153	Abnormality of the mouth	284252	KCTD1	OMIM:181270
HP:0000153	Abnormality of the mouth	1718	DHCR24	ORPHA:35107
HP:0000153	Abnormality of the mouth	8239	USP9X	OMIM:300968
HP:0000153	Abnormality of the mouth	6472	SHMT2	OMIM:619121
HP:0000153	Abnormality of the mouth	9928	KIF14	OMIM:616258
HP:0000153	Abnormality of the mouth	1654	DDX3X	OMIM:300958
HP:0000153	Abnormality of the mouth	2255	FGF10	ORPHA:2363
HP:0000153	Abnormality of the mouth	3373	HYAL1	OMIM:601492
HP:0000153	Abnormality of the mouth	50945	TBX22	OMIM:303400
HP:0000153	Abnormality of the mouth	23314	SATB2	ORPHA:576283
HP:0000153	Abnormality of the mouth	81031	SLC2A10	OMIM:208050
HP:0000153	Abnormality of the mouth	23483	TGDS	OMIM:616145
HP:0000153	Abnormality of the mouth	9652	SKIC3	OMIM:222470
HP:0000153	Abnormality of the mouth	8243	SMC1A	ORPHA:220386
HP:0000153	Abnormality of the mouth	100151683	RNU4ATAC	ORPHA:2636
HP:0000153	Abnormality of the mouth	5236	PGM1	OMIM:614921
HP:0000153	Abnormality of the mouth	7048	TGFBR2	OMIM:610168
HP:0000153	Abnormality of the mouth	7048	TGFBR2	ORPHA:60030
HP:0000153	Abnormality of the mouth	23522	KAT6B	ORPHA:3047
HP:0000153	Abnormality of the mouth	1302	COL11A2	ORPHA:1427
HP:0000153	Abnormality of the mouth	10195	ALG3	OMIM:601110
HP:0000153	Abnormality of the mouth	9742	IFT140	OMIM:266920
HP:0000153	Abnormality of the mouth	9775	EIF4A3	OMIM:268305
HP:0000153	Abnormality of the mouth	91252	SLC39A13	OMIM:612350
HP:0000153	Abnormality of the mouth	7046	TGFBR1	ORPHA:60030
HP:0000153	Abnormality of the mouth	7046	TGFBR1	OMIM:609192
HP:0000153	Abnormality of the mouth	219844	HYLS1	ORPHA:2189
HP:0000153	Abnormality of the mouth	7042	TGFB2	OMIM:614816
HP:0000153	Abnormality of the mouth	4089	SMAD4	ORPHA:2588
HP:0000153	Abnormality of the mouth	2137	EXTL3	ORPHA:508533
HP:0000153	Abnormality of the mouth	5144	PDE4D	ORPHA:950
HP:0000153	Abnormality of the mouth	3763	KCNJ6	ORPHA:435628
HP:0000153	Abnormality of the mouth	3763	KCNJ6	OMIM:614098
HP:0000153	Abnormality of the mouth	23141	ANKLE2	OMIM:616681
HP:0000153	Abnormality of the mouth	8473	OGT	OMIM:300997
HP:0000153	Abnormality of the mouth	65062	TMEM237	OMIM:614424
HP:0000153	Abnormality of the mouth	53616	ADAM22	OMIM:617933
HP:0000153	Abnormality of the mouth	55777	MBD5	ORPHA:228402
HP:0000153	Abnormality of the mouth	55777	MBD5	OMIM:156200
HP:0000153	Abnormality of the mouth	118987	PDZD8	OMIM:620021
HP:0000153	Abnormality of the mouth	2629	GBA1	OMIM:608013
HP:0000153	Abnormality of the mouth	23126	POGZ	ORPHA:468678
HP:0000153	Abnormality of the mouth	10479	SLC9A6	OMIM:300243
HP:0000153	Abnormality of the mouth	6535	SLC6A8	ORPHA:52503
HP:0000153	Abnormality of the mouth	116931	MED12L	OMIM:618872
HP:0000153	Abnormality of the mouth	283489	CHAMP1	OMIM:616579
HP:0000153	Abnormality of the mouth	2314	FLII	ORPHA:819
HP:0000153	Abnormality of the mouth	23096	IQSEC2	ORPHA:819
HP:0000153	Abnormality of the mouth	10743	RAI1	ORPHA:819
HP:0000153	Abnormality of the mouth	3908	LAMA2	ORPHA:258
HP:0000153	Abnormality of the mouth	5980	REV3L	ORPHA:570
HP:0000153	Abnormality of the mouth	23129	PLXND1	ORPHA:570
HP:0000153	Abnormality of the mouth	84340	GFM2	ORPHA:565624
HP:0000153	Abnormality of the mouth	55870	ASH1L	OMIM:617796
HP:0000153	Abnormality of the mouth	9326	ZNHIT3	ORPHA:2836
HP:0000153	Abnormality of the mouth	9326	ZNHIT3	OMIM:260565
HP:0000153	Abnormality of the mouth	547	KIF1A	ORPHA:2836
HP:0000153	Abnormality of the mouth	23389	MED13L	ORPHA:369891
HP:0000153	Abnormality of the mouth	23389	MED13L	OMIM:616789
HP:0000153	Abnormality of the mouth	157680	VPS13B	OMIM:216550
HP:0000153	Abnormality of the mouth	157680	VPS13B	ORPHA:193
HP:0000153	Abnormality of the mouth	54806	AHI1	OMIM:608629
HP:0000153	Abnormality of the mouth	23258	DENND5A	OMIM:617281
HP:0000153	Abnormality of the mouth	4784	NFIX	ORPHA:561
HP:0000153	Abnormality of the mouth	5442	POLRMT	OMIM:619743
HP:0000153	Abnormality of the mouth	5528	PPP2R5D	OMIM:616355
HP:0000153	Abnormality of the mouth	79576	NKAP	OMIM:301039
HP:0000153	Abnormality of the mouth	1822	ATN1	OMIM:618494
HP:0000153	Abnormality of the mouth	2475	MTOR	ORPHA:457485
HP:0000153	Abnormality of the mouth	2475	MTOR	OMIM:616638
HP:0000153	Abnormality of the mouth	54551	MAGEL2	OMIM:615547
HP:0000153	Abnormality of the mouth	4247	MGAT2	OMIM:212066
HP:0000153	Abnormality of the mouth	4247	MGAT2	ORPHA:79329
HP:0000153	Abnormality of the mouth	5518	PPP2R1A	OMIM:616362
HP:0000153	Abnormality of the mouth	5518	PPP2R1A	ORPHA:457284
HP:0000153	Abnormality of the mouth	55768	NGLY1	OMIM:615273
HP:0000153	Abnormality of the mouth	5281	PIGF	OMIM:619356
HP:0000153	Abnormality of the mouth	57680	CHD8	OMIM:615032
HP:0000153	Abnormality of the mouth	5063	PAK3	OMIM:300558
HP:0000153	Abnormality of the mouth	1213	CLTC	OMIM:617854
HP:0000153	Abnormality of the mouth	285175	UNC80	OMIM:616801
HP:0000153	Abnormality of the mouth	3211	HOXB1	OMIM:614744
HP:0000153	Abnormality of the mouth	8905	AP1S2	ORPHA:85329
HP:0000153	Abnormality of the mouth	54828	BCAS3	OMIM:619641
HP:0000153	Abnormality of the mouth	4841	NONO	OMIM:300967
HP:0000153	Abnormality of the mouth	4841	NONO	ORPHA:466791
HP:0000153	Abnormality of the mouth	27086	FOXP1	ORPHA:391372
HP:0000153	Abnormality of the mouth	27086	FOXP1	OMIM:613670
HP:0000153	Abnormality of the mouth	6942	TCF20	OMIM:618430
HP:0000153	Abnormality of the mouth	57688	ZSWIM6	OMIM:617865
HP:0000153	Abnormality of the mouth	207	AKT1	OMIM:176920
HP:0000153	Abnormality of the mouth	55704	CCDC88A	OMIM:617507
HP:0000153	Abnormality of the mouth	200424	TET3	OMIM:618798
HP:0000153	Abnormality of the mouth	25973	PARS2	OMIM:618437
HP:0000153	Abnormality of the mouth	9993	DGCR2	OMIM:192430
HP:0000153	Abnormality of the mouth	8220	ESS2	OMIM:192430
HP:0000153	Abnormality of the mouth	8214	DGCR6	OMIM:192430
HP:0000153	Abnormality of the mouth	54487	DGCR8	OMIM:192430
HP:0000153	Abnormality of the mouth	6899	TBX1	OMIM:192430
HP:0000153	Abnormality of the mouth	8911	CACNA1I	OMIM:620114
HP:0000153	Abnormality of the mouth	51244	CCDC174	OMIM:616816
HP:0000153	Abnormality of the mouth	3756	KCNH1	ORPHA:420561
HP:0000153	Abnormality of the mouth	23556	PIGN	OMIM:614080
HP:0000153	Abnormality of the mouth	7030	TFE3	OMIM:301066
HP:0000153	Abnormality of the mouth	5879	RAC1	OMIM:617751
HP:0000153	Abnormality of the mouth	5879	RAC1	ORPHA:500159
HP:0000153	Abnormality of the mouth	29954	POMT2	OMIM:613156
HP:0000153	Abnormality of the mouth	11141	IL1RAPL1	OMIM:300143
HP:0000153	Abnormality of the mouth	1968	EIF2S3	OMIM:300148
HP:0000153	Abnormality of the mouth	27161	AGO2	OMIM:619149
HP:0000153	Abnormality of the mouth	9427	ECEL1	OMIM:615065
HP:0000153	Abnormality of the mouth	667	DST	OMIM:614653
HP:0000153	Abnormality of the mouth	22907	DHX30	OMIM:617804
HP:0000153	Abnormality of the mouth	1460	CSNK2B	OMIM:618732
HP:0000153	Abnormality of the mouth	80816	ASXL3	ORPHA:352577
HP:0000153	Abnormality of the mouth	7403	KDM6A	OMIM:300867
HP:0000153	Abnormality of the mouth	8626	TP63	OMIM:604292
HP:0000153	Abnormality of the mouth	5573	PRKAR1A	ORPHA:1359
HP:0000153	Abnormality of the mouth	50940	PDE11A	ORPHA:1359
HP:0000153	Abnormality of the mouth	8241	RBM10	ORPHA:2886
HP:0000153	Abnormality of the mouth	8241	RBM10	OMIM:311900
HP:0000153	Abnormality of the mouth	200894	ARL13B	ORPHA:475
HP:0000153	Abnormality of the mouth	9731	CEP104	ORPHA:475
HP:0000153	Abnormality of the mouth	219854	TMEM218	ORPHA:475
HP:0000153	Abnormality of the mouth	10464	PIBF1	ORPHA:475
HP:0000153	Abnormality of the mouth	80210	ARMC9	ORPHA:475
HP:0000153	Abnormality of the mouth	25776	CBY1	ORPHA:475
HP:0000153	Abnormality of the mouth	403	ARL3	ORPHA:475
HP:0000153	Abnormality of the mouth	26160	IFT172	OMIM:615630
HP:0000153	Abnormality of the mouth	81839	VANGL1	ORPHA:3027
HP:0000153	Abnormality of the mouth	80199	FUZ	ORPHA:3027
HP:0000153	Abnormality of the mouth	10436	EMG1	ORPHA:1270
HP:0000153	Abnormality of the mouth	2767	GNA11	ORPHA:1556
HP:0000153	Abnormality of the mouth	151188	ARL6IP6	ORPHA:1556
HP:0000153	Abnormality of the mouth	4072	EPCAM	ORPHA:92050
HP:0000153	Abnormality of the mouth	105371045	PERCC1	ORPHA:92050
HP:0000153	Abnormality of the mouth	84295	PHF6	ORPHA:127
HP:0000153	Abnormality of the mouth	8802	SUCLG1	ORPHA:17
HP:0000153	Abnormality of the mouth	54676	GTPBP2	OMIM:617988
HP:0000153	Abnormality of the mouth	114803	MYSM1	ORPHA:508542
HP:0000153	Abnormality of the mouth	4323	MMP14	OMIM:277950
HP:0000153	Abnormality of the mouth	4313	MMP2	OMIM:259600
HP:0000153	Abnormality of the mouth	2776	GNAQ	ORPHA:3205
HP:0000153	Abnormality of the mouth	55315	SLC29A3	ORPHA:168569
HP:0000153	Abnormality of the mouth	9071	CLDN10	OMIM:617671
HP:0000153	Abnormality of the mouth	64834	ELOVL1	OMIM:618527
HP:0000153	Abnormality of the mouth	25978	CHMP2B	ORPHA:803
HP:0000153	Abnormality of the mouth	3178	HNRNPA1	ORPHA:803
HP:0000153	Abnormality of the mouth	8148	TAF15	ORPHA:803
HP:0000153	Abnormality of the mouth	5445	PON2	ORPHA:803
HP:0000153	Abnormality of the mouth	9217	VAPB	ORPHA:803
HP:0000153	Abnormality of the mouth	8878	SQSTM1	ORPHA:803
HP:0000153	Abnormality of the mouth	5630	PRPH	ORPHA:803
HP:0000153	Abnormality of the mouth	29110	TBK1	ORPHA:803
HP:0000153	Abnormality of the mouth	55830	GLT8D1	ORPHA:803
HP:0000153	Abnormality of the mouth	755	CFAP410	ORPHA:803
HP:0000153	Abnormality of the mouth	10891	PPARGC1A	ORPHA:803
HP:0000153	Abnormality of the mouth	6647	SOD1	ORPHA:803
HP:0000153	Abnormality of the mouth	1639	DCTN1	ORPHA:803
HP:0000153	Abnormality of the mouth	5444	PON1	ORPHA:803
HP:0000153	Abnormality of the mouth	5446	PON3	ORPHA:803
HP:0000153	Abnormality of the mouth	4744	NEFH	ORPHA:803
HP:0000153	Abnormality of the mouth	5216	PFN1	ORPHA:803
HP:0000153	Abnormality of the mouth	9782	MATR3	ORPHA:803
HP:0000153	Abnormality of the mouth	54209	TREM2	ORPHA:803
HP:0000153	Abnormality of the mouth	7415	VCP	ORPHA:803
HP:0000153	Abnormality of the mouth	283	ANG	ORPHA:803
HP:0000153	Abnormality of the mouth	23435	TARDBP	ORPHA:803
HP:0000153	Abnormality of the mouth	29978	UBQLN2	ORPHA:803
HP:0000153	Abnormality of the mouth	2733	GLE1	ORPHA:803
HP:0000153	Abnormality of the mouth	2521	FUS	ORPHA:803
HP:0000153	Abnormality of the mouth	2043	EPHA4	ORPHA:803
HP:0000153	Abnormality of the mouth	6311	ATXN2	ORPHA:803
HP:0000153	Abnormality of the mouth	1610	DAO	ORPHA:803
HP:0000153	Abnormality of the mouth	2066	ERBB4	ORPHA:803
HP:0000153	Abnormality of the mouth	23025	UNC13A	ORPHA:803
HP:0000153	Abnormality of the mouth	899	CCNF	ORPHA:803
HP:0000153	Abnormality of the mouth	400916	CHCHD10	ORPHA:803
HP:0000153	Abnormality of the mouth	1131	CHRM3	OMIM:100100
HP:0000153	Abnormality of the mouth	6492	SIM1	ORPHA:398079
HP:0000153	Abnormality of the mouth	1235	CCR6	ORPHA:220393
HP:0000153	Abnormality of the mouth	1490	CCN2	ORPHA:220393
HP:0000153	Abnormality of the mouth	3663	IRF5	ORPHA:220393
HP:0000153	Abnormality of the mouth	875	CBS	ORPHA:394
HP:0000153	Abnormality of the mouth	875	CBS	OMIM:236200
HP:0000153	Abnormality of the mouth	2673	GFPT1	OMIM:608931
HP:0000153	Abnormality of the mouth	2673	GFPT1	ORPHA:353327
HP:0000153	Abnormality of the mouth	1145	CHRNE	OMIM:608931
HP:0000153	Abnormality of the mouth	1145	CHRNE	ORPHA:98913
HP:0000153	Abnormality of the mouth	5238	PGM3	ORPHA:443811
HP:0000153	Abnormality of the mouth	5238	PGM3	OMIM:615816
HP:0000153	Abnormality of the mouth	5184	PEPD	OMIM:170100
HP:0000153	Abnormality of the mouth	4625	MYH7	OMIM:160500
HP:0000153	Abnormality of the mouth	4625	MYH7	ORPHA:324604
HP:0000153	Abnormality of the mouth	4625	MYH7	OMIM:255160
HP:0000153	Abnormality of the mouth	4625	MYH7	ORPHA:59135
HP:0000153	Abnormality of the mouth	55154	MSTO1	OMIM:617675
HP:0000153	Abnormality of the mouth	55154	MSTO1	ORPHA:502423
HP:0000153	Abnormality of the mouth	79029	AFG2B	OMIM:619616
HP:0000153	Abnormality of the mouth	4620	MYH2	OMIM:605637
HP:0000153	Abnormality of the mouth	4330	MN1	OMIM:618774
HP:0000153	Abnormality of the mouth	8550	MAPKAPK5	OMIM:619869
HP:0000153	Abnormality of the mouth	4534	MTM1	ORPHA:596
HP:0000153	Abnormality of the mouth	4534	MTM1	OMIM:310400
HP:0000153	Abnormality of the mouth	4534	MTM1	ORPHA:456328
HP:0000153	Abnormality of the mouth	23259	DDHD2	OMIM:615033
HP:0000153	Abnormality of the mouth	23259	DDHD2	ORPHA:320380
HP:0000153	Abnormality of the mouth	92609	TIMM50	OMIM:617698
HP:0000153	Abnormality of the mouth	6329	SCN4A	OMIM:614198
HP:0000153	Abnormality of the mouth	6329	SCN4A	ORPHA:98913
HP:0000153	Abnormality of the mouth	56652	TWNK	OMIM:616138
HP:0000153	Abnormality of the mouth	163175	LGI4	OMIM:617468
HP:0000153	Abnormality of the mouth	8565	YARS1	OMIM:619418
HP:0000153	Abnormality of the mouth	10533	ATG7	OMIM:619422
HP:0000153	Abnormality of the mouth	5081	PAX7	OMIM:618578
HP:0000153	Abnormality of the mouth	2201	FBN2	ORPHA:115
HP:0000153	Abnormality of the mouth	2201	FBN2	OMIM:121050
HP:0000153	Abnormality of the mouth	50814	NSDHL	ORPHA:251383
HP:0000153	Abnormality of the mouth	50814	NSDHL	OMIM:300831
HP:0000153	Abnormality of the mouth	5515	PPP2CA	OMIM:618354
HP:0000153	Abnormality of the mouth	3039	HBA1	ORPHA:98791
HP:0000153	Abnormality of the mouth	3040	HBA2	ORPHA:98791
HP:0000153	Abnormality of the mouth	51434	ANAPC7	OMIM:619699
HP:0000153	Abnormality of the mouth	1621	DBH	OMIM:223360
HP:0000153	Abnormality of the mouth	9758	FRMPD4	OMIM:300983
HP:0000153	Abnormality of the mouth	55975	KLHL7	OMIM:617055
HP:0000153	Abnormality of the mouth	348180	CTU2	OMIM:618142
HP:0000153	Abnormality of the mouth	3248	HPGD	OMIM:259100
HP:0000153	Abnormality of the mouth	23387	SIK3	OMIM:618162
HP:0000153	Abnormality of the mouth	1073	CFL2	OMIM:610687
HP:0000153	Abnormality of the mouth	1073	CFL2	ORPHA:171436
HP:0000153	Abnormality of the mouth	779	CACNA1S	OMIM:620246
HP:0000153	Abnormality of the mouth	9562	MINPP1	ORPHA:284339
HP:0000153	Abnormality of the mouth	65055	REEP1	OMIM:620011
HP:0000153	Abnormality of the mouth	50484	RRM2B	ORPHA:329336
HP:0000153	Abnormality of the mouth	246243	RNASEH1	ORPHA:329336
HP:0000153	Abnormality of the mouth	5784	PTPN14	OMIM:613611
HP:0000153	Abnormality of the mouth	29967	LRP12	OMIM:164310
HP:0000153	Abnormality of the mouth	23116	TOGARAM1	OMIM:619185
HP:0000153	Abnormality of the mouth	10056	FARSB	OMIM:613658
HP:0000153	Abnormality of the mouth	79759	ZNF668	OMIM:620194
HP:0000153	Abnormality of the mouth	8050	PDHX	OMIM:245349
HP:0000153	Abnormality of the mouth	1305	COL13A1	OMIM:616720
HP:0000153	Abnormality of the mouth	1305	COL13A1	ORPHA:98914
HP:0000153	Abnormality of the mouth	1305	COL13A1	ORPHA:98913
HP:0000153	Abnormality of the mouth	11133	KPTN	OMIM:615637
HP:0000153	Abnormality of the mouth	11133	KPTN	ORPHA:397612
HP:0000153	Abnormality of the mouth	6473	SHOX	OMIM:127300
HP:0000153	Abnormality of the mouth	6473	SHOX	ORPHA:314795
HP:0000153	Abnormality of the mouth	6473	SHOX	ORPHA:2632
HP:0000153	Abnormality of the mouth	84162	BLTP1	OMIM:617822
HP:0000153	Abnormality of the mouth	5075	PAX1	ORPHA:2792
HP:0000153	Abnormality of the mouth	25	ABL1	OMIM:617602
HP:0000153	Abnormality of the mouth	9997	SCO2	OMIM:604377
HP:0000153	Abnormality of the mouth	6182	MRPL12	OMIM:618951
HP:0000153	Abnormality of the mouth	60482	SLC5A7	ORPHA:98914
HP:0000153	Abnormality of the mouth	4649	MYO9A	ORPHA:98914
HP:0000153	Abnormality of the mouth	1103	CHAT	ORPHA:98914
HP:0000153	Abnormality of the mouth	6576	SLC25A1	ORPHA:98914
HP:0000153	Abnormality of the mouth	6843	VAMP1	ORPHA:98914
HP:0000153	Abnormality of the mouth	375790	AGRN	ORPHA:98914
HP:0000153	Abnormality of the mouth	375790	AGRN	ORPHA:98913
HP:0000153	Abnormality of the mouth	375790	AGRN	OMIM:615120
HP:0000153	Abnormality of the mouth	6616	SNAP25	ORPHA:98914
HP:0000153	Abnormality of the mouth	1140	CHRNB1	ORPHA:98913
HP:0000153	Abnormality of the mouth	1140	CHRNB1	OMIM:616313
HP:0000153	Abnormality of the mouth	221264	AK9	ORPHA:98913
HP:0000153	Abnormality of the mouth	26503	SLC17A5	OMIM:269920
HP:0000153	Abnormality of the mouth	79875	THSD4	OMIM:619825
HP:0000153	Abnormality of the mouth	9853	RUSC2	OMIM:617773
HP:0000153	Abnormality of the mouth	85365	ALG2	OMIM:616228
HP:0000153	Abnormality of the mouth	85365	ALG2	OMIM:607906
HP:0000153	Abnormality of the mouth	85365	ALG2	ORPHA:353327
HP:0000153	Abnormality of the mouth	2626	GATA4	ORPHA:251071
HP:0000153	Abnormality of the mouth	1656	DDX6	OMIM:618653
HP:0000153	Abnormality of the mouth	1501	CTNND2	ORPHA:281
HP:0000153	Abnormality of the mouth	9037	SEMA5A	ORPHA:281
HP:0000153	Abnormality of the mouth	88	ACTN2	OMIM:618654
HP:0000153	Abnormality of the mouth	4632	MYL1	OMIM:618414
HP:0000153	Abnormality of the mouth	84665	MYPN	OMIM:617336
HP:0000153	Abnormality of the mouth	84665	MYPN	ORPHA:171881
HP:0000153	Abnormality of the mouth	84665	MYPN	ORPHA:171439
HP:0000153	Abnormality of the mouth	286	ANK1	ORPHA:251066
HP:0000153	Abnormality of the mouth	7841	MOGS	ORPHA:79330
HP:0000153	Abnormality of the mouth	7841	MOGS	OMIM:606056
HP:0000153	Abnormality of the mouth	2271	FH	OMIM:606812
HP:0000153	Abnormality of the mouth	3897	L1CAM	OMIM:304100
HP:0000153	Abnormality of the mouth	973	CD79A	ORPHA:33110
HP:0000153	Abnormality of the mouth	974	CD79B	ORPHA:33110
HP:0000153	Abnormality of the mouth	3543	IGLL1	ORPHA:33110
HP:0000153	Abnormality of the mouth	3507	IGHM	ORPHA:33110
HP:0000153	Abnormality of the mouth	29760	BLNK	ORPHA:33110
HP:0000153	Abnormality of the mouth	56262	LRRC8A	ORPHA:33110
HP:0000153	Abnormality of the mouth	56262	LRRC8A	OMIM:613506
HP:0000153	Abnormality of the mouth	353116	RILPL1	OMIM:619790
HP:0000153	Abnormality of the mouth	10466	COG5	ORPHA:263487
HP:0000153	Abnormality of the mouth	2530	FUT8	OMIM:618005
HP:0000153	Abnormality of the mouth	9451	EIF2AK3	OMIM:226980
HP:0000153	Abnormality of the mouth	5283	PIGH	OMIM:618010
HP:0000153	Abnormality of the mouth	84896	ATAD1	OMIM:618011
HP:0000153	Abnormality of the mouth	57187	THOC2	ORPHA:457240
HP:0000153	Abnormality of the mouth	668	FOXL2	OMIM:110100
HP:0000153	Abnormality of the mouth	23154	NCDN	OMIM:619373
HP:0000153	Abnormality of the mouth	1795	DOCK3	OMIM:618292
HP:0000153	Abnormality of the mouth	4702	NDUFA8	OMIM:619272
HP:0000153	Abnormality of the mouth	4574	MT-TS1	OMIM:220110
HP:0000153	Abnormality of the mouth	4570	MT-TN	OMIM:220110
HP:0000153	Abnormality of the mouth	6834	SURF1	OMIM:220110
HP:0000153	Abnormality of the mouth	1119	CHKA	OMIM:620023
HP:0000153	Abnormality of the mouth	23118	TAB2	ORPHA:228410
HP:0000153	Abnormality of the mouth	56203	LMOD3	ORPHA:171436
HP:0000153	Abnormality of the mouth	1798	DPAGT1	ORPHA:353327
HP:0000153	Abnormality of the mouth	199857	ALG14	ORPHA:353327
HP:0000153	Abnormality of the mouth	84987	COX14	OMIM:619053
HP:0000153	Abnormality of the mouth	1339	COX6A2	OMIM:619062
HP:0000153	Abnormality of the mouth	390594	KBTBD13	ORPHA:171439
HP:0000153	Abnormality of the mouth	50628	GEMIN4	OMIM:617913
HP:0000153	Abnormality of the mouth	9698	PUM1	OMIM:617931
HP:0000153	Abnormality of the mouth	5859	QARS1	OMIM:615760
HP:0000153	Abnormality of the mouth	3313	HSPA9	OMIM:616854
HP:0000153	Abnormality of the mouth	10525	HYOU1	OMIM:233600
HP:0000153	Abnormality of the mouth	10157	AASS	ORPHA:2203
HP:0000153	Abnormality of the mouth	30008	EFEMP2	OMIM:614437
HP:0000153	Abnormality of the mouth	26224	FBXL3	OMIM:606220
HP:0000153	Abnormality of the mouth	23511	NUP188	OMIM:618804
HP:0000153	Abnormality of the mouth	8405	SPOP	OMIM:618829
HP:0000153	Abnormality of the mouth	200205	IBA57	OMIM:615330
HP:0000153	Abnormality of the mouth	57731	SPTBN4	OMIM:617519
HP:0000153	Abnormality of the mouth	6736	SRY	ORPHA:1772
HP:0000153	Abnormality of the mouth	55753	OGDHL	OMIM:619701
HP:0000153	Abnormality of the mouth	9990	SLC12A6	OMIM:218000
HP:0000153	Abnormality of the mouth	104	ADARB1	OMIM:618862
HP:0000153	Abnormality of the mouth	3703	STT3A	OMIM:619714
HP:0000153	Abnormality of the mouth	4983	OPHN1	OMIM:300486
HP:0000153	Abnormality of the mouth	10026	PIGK	OMIM:618879
HP:0000153	Abnormality of the mouth	10978	CLP1	OMIM:615803
HP:0000153	Abnormality of the mouth	23325	WASHC4	OMIM:615817
HP:0000153	Abnormality of the mouth	79087	ALG12	OMIM:607143
HP:0000153	Abnormality of the mouth	79087	ALG12	ORPHA:79324
HP:0000153	Abnormality of the mouth	51651	PTRH2	ORPHA:456312
HP:0000153	Abnormality of the mouth	51651	PTRH2	OMIM:616263
HP:0000153	Abnormality of the mouth	23036	ZNF292	OMIM:619188
HP:0000153	Abnormality of the mouth	4953	ODC1	OMIM:619075
HP:0000153	Abnormality of the mouth	3098	HK1	OMIM:618547
HP:0000153	Abnormality of the mouth	53335	BCL11A	OMIM:617101
HP:0000153	Abnormality of the mouth	92002	CCNQ	ORPHA:140952
HP:0000153	Abnormality of the mouth	92002	CCNQ	OMIM:300707
HP:0000153	Abnormality of the mouth	81887	LAS1L	ORPHA:3459
HP:0000153	Abnormality of the mouth	10472	ZBTB18	OMIM:612337
HP:0000153	Abnormality of the mouth	1523	CUX1	OMIM:618330
HP:0000153	Abnormality of the mouth	6857	SYT1	OMIM:618218
HP:0000153	Abnormality of the mouth	6857	SYT1	ORPHA:522077
HP:0000153	Abnormality of the mouth	55628	ZNF407	OMIM:619557
HP:0000153	Abnormality of the mouth	7681	MKRN3	OMIM:176270
HP:0000153	Abnormality of the mouth	3653	IPW	OMIM:176270
HP:0000153	Abnormality of the mouth	791114	PWRN1	OMIM:176270
HP:0000153	Abnormality of the mouth	100033413	SNORD116-1	OMIM:176270
HP:0000153	Abnormality of the mouth	145624	PWAR1	OMIM:176270
HP:0000153	Abnormality of the mouth	23742	NPAP1	OMIM:176270
HP:0000153	Abnormality of the mouth	338433	SNORD115-1	OMIM:176270
HP:0000153	Abnormality of the mouth	1725	DHPS	OMIM:618480
HP:0000153	Abnormality of the mouth	4692	NDN	ORPHA:177901
HP:0000153	Abnormality of the mouth	57211	ADGRG6	OMIM:616503
HP:0000153	Abnormality of the mouth	5718	PSMD12	ORPHA:529962
HP:0000153	Abnormality of the mouth	83696	TRAPPC9	ORPHA:352530
HP:0000153	Abnormality of the mouth	63932	STEEP1	OMIM:301013
HP:0000153	Abnormality of the mouth	23112	TNRC6B	OMIM:619243
HP:0000153	Abnormality of the mouth	10551	AGR2	OMIM:620233
HP:0000153	Abnormality of the mouth	55252	ASXL2	OMIM:617190
HP:0000153	Abnormality of the mouth	57020	VPS35L	OMIM:619135
HP:0000153	Abnormality of the mouth	178	AGL	OMIM:232400
HP:0000153	Abnormality of the mouth	4848	CNOT2	OMIM:618608
HP:0000153	Abnormality of the mouth	10079	ATP9A	OMIM:620242
HP:0000153	Abnormality of the mouth	9276	COPB2	ORPHA:2512
HP:0000153	Abnormality of the mouth	284403	WDR62	ORPHA:2512
HP:0000153	Abnormality of the mouth	55262	TRAPPC14	ORPHA:2512
HP:0000153	Abnormality of the mouth	163786	SASS6	ORPHA:2512
HP:0000153	Abnormality of the mouth	84879	MFSD2A	ORPHA:2512
HP:0000153	Abnormality of the mouth	4176	MCM7	ORPHA:2512
HP:0000153	Abnormality of the mouth	80254	CEP63	ORPHA:2512
HP:0000153	Abnormality of the mouth	23310	NCAPD3	ORPHA:2512
HP:0000153	Abnormality of the mouth	55755	CDK5RAP2	ORPHA:2512
HP:0000153	Abnormality of the mouth	79648	MCPH1	ORPHA:2512
HP:0000153	Abnormality of the mouth	259266	ASPM	ORPHA:2512
HP:0000153	Abnormality of the mouth	7109	TRAPPC10	ORPHA:2512
HP:0000153	Abnormality of the mouth	1911	PHC1	ORPHA:2512
HP:0000153	Abnormality of the mouth	6884	TAF13	ORPHA:2512
HP:0000153	Abnormality of the mouth	9662	CEP135	ORPHA:2512
HP:0000153	Abnormality of the mouth	57082	KNL1	ORPHA:2512
HP:0000153	Abnormality of the mouth	1021	CDK6	ORPHA:2512
HP:0000153	Abnormality of the mouth	84617	TUBB6	OMIM:617732
HP:0000153	Abnormality of the mouth	8242	KDM5C	OMIM:300534
HP:0000153	Abnormality of the mouth	8518	ELP1	OMIM:223900
HP:0000153	Abnormality of the mouth	54463	RETREG1	OMIM:201300
HP:0000153	Abnormality of the mouth	65125	WNK1	OMIM:201300
HP:0000153	Abnormality of the mouth	3674	ITGA2B	OMIM:273800
HP:0000153	Abnormality of the mouth	3674	ITGA2B	ORPHA:849
HP:0000153	Abnormality of the mouth	2811	GP1BA	OMIM:153670
HP:0000153	Abnormality of the mouth	2811	GP1BA	ORPHA:274
HP:0000153	Abnormality of the mouth	2811	GP1BA	OMIM:231200
HP:0000153	Abnormality of the mouth	7454	WAS	OMIM:301000
HP:0000153	Abnormality of the mouth	7454	WAS	ORPHA:906
HP:0000153	Abnormality of the mouth	2815	GP9	ORPHA:274
HP:0000153	Abnormality of the mouth	2815	GP9	OMIM:231200
HP:0000153	Abnormality of the mouth	2243	FGA	OMIM:202400
HP:0000153	Abnormality of the mouth	2243	FGA	ORPHA:98880
HP:0000153	Abnormality of the mouth	2243	FGA	ORPHA:98881
HP:0000153	Abnormality of the mouth	2243	FGA	ORPHA:101041
HP:0000153	Abnormality of the mouth	2244	FGB	OMIM:202400
HP:0000153	Abnormality of the mouth	2244	FGB	ORPHA:98880
HP:0000153	Abnormality of the mouth	2244	FGB	ORPHA:98881
HP:0000153	Abnormality of the mouth	2244	FGB	ORPHA:101041
HP:0000153	Abnormality of the mouth	2266	FGG	OMIM:202400
HP:0000153	Abnormality of the mouth	2266	FGG	ORPHA:98880
HP:0000153	Abnormality of the mouth	2266	FGG	ORPHA:98881
HP:0000153	Abnormality of the mouth	2266	FGG	ORPHA:101041
HP:0000153	Abnormality of the mouth	10068	IL18BP	OMIM:618549
HP:0000153	Abnormality of the mouth	3257	HPS1	OMIM:203300
HP:0000153	Abnormality of the mouth	7456	WIPF1	ORPHA:906
HP:0000153	Abnormality of the mouth	5345	SERPINF2	ORPHA:79
HP:0000153	Abnormality of the mouth	84343	HPS3	OMIM:614072
HP:0000153	Abnormality of the mouth	388552	BLOC1S3	OMIM:614077
HP:0000153	Abnormality of the mouth	3998	LMAN1	ORPHA:35909
HP:0000153	Abnormality of the mouth	90411	MCFD2	ORPHA:35909
HP:0000153	Abnormality of the mouth	2162	F13A1	OMIM:613225
HP:0000153	Abnormality of the mouth	2162	F13A1	ORPHA:331
HP:0000153	Abnormality of the mouth	2165	F13B	ORPHA:331
HP:0000153	Abnormality of the mouth	9493	KIF23	ORPHA:98870
HP:0000153	Abnormality of the mouth	29127	RACGAP1	ORPHA:98870
HP:0000153	Abnormality of the mouth	63915	BLOC1S5	OMIM:619172
HP:0000153	Abnormality of the mouth	5551	PRF1	ORPHA:88
HP:0000153	Abnormality of the mouth	2159	F10	OMIM:227600
HP:0000153	Abnormality of the mouth	2159	F10	ORPHA:328
HP:0000153	Abnormality of the mouth	2157	F8	ORPHA:169805
HP:0000153	Abnormality of the mouth	4352	MPL	ORPHA:729
HP:0000153	Abnormality of the mouth	3717	JAK2	ORPHA:729
HP:0000153	Abnormality of the mouth	54790	TET2	ORPHA:729
HP:0000153	Abnormality of the mouth	3690	ITGB3	ORPHA:849
HP:0000153	Abnormality of the mouth	2147	F2	OMIM:613679
HP:0000153	Abnormality of the mouth	9103	FCGR2C	ORPHA:3002
HP:0000153	Abnormality of the mouth	2155	F7	ORPHA:327
HP:0000153	Abnormality of the mouth	2153	F5	ORPHA:326
HP:0000153	Abnormality of the mouth	4615	MYD88	ORPHA:33226
HP:0000153	Abnormality of the mouth	950	SCARB2	ORPHA:77259
HP:0000153	Abnormality of the mouth	340024	SLC6A19	ORPHA:2116
HP:0000153	Abnormality of the mouth	57393	CLTRN	ORPHA:2116
HP:0000153	Abnormality of the mouth	6785	ELOVL4	OMIM:614457
HP:0000153	Abnormality of the mouth	54809	SAMD9	OMIM:610455
HP:0000153	Abnormality of the mouth	1536	CYBB	ORPHA:379
HP:0000153	Abnormality of the mouth	4688	NCF2	ORPHA:379
HP:0000153	Abnormality of the mouth	1535	CYBA	ORPHA:379
HP:0000153	Abnormality of the mouth	4689	NCF4	ORPHA:379
HP:0000153	Abnormality of the mouth	26235	FBXL4	OMIM:615471
HP:0000153	Abnormality of the mouth	2296	FOXC1	ORPHA:782
HP:0000153	Abnormality of the mouth	4190	MDH1	OMIM:618959
HP:0000153	Abnormality of the mouth	57192	MCOLN1	ORPHA:578
HP:0000153	Abnormality of the mouth	5080	PAX6	ORPHA:893
HP:0000153	Abnormality of the mouth	627	BDNF	ORPHA:893
HP:0000153	Abnormality of the mouth	7490	WT1	ORPHA:893
HP:0000153	Abnormality of the mouth	79989	IFT56	OMIM:619534
HP:0000153	Abnormality of the mouth	138050	HGSNAT	OMIM:252930
HP:0000153	Abnormality of the mouth	65992	DDRGK1	OMIM:602557
HP:0000153	Abnormality of the mouth	50651	SLC45A1	OMIM:617532
HP:0000153	Abnormality of the mouth	10765	KDM5B	OMIM:618109
HP:0000153	Abnormality of the mouth	9526	MPDU1	OMIM:609180
HP:0000153	Abnormality of the mouth	9526	MPDU1	ORPHA:79323
HP:0000153	Abnormality of the mouth	7518	XRCC4	ORPHA:99812
HP:0000153	Abnormality of the mouth	137814	NKX2-6	ORPHA:3303
HP:0000153	Abnormality of the mouth	23414	ZFPM2	ORPHA:3303
HP:0000153	Abnormality of the mouth	3791	KDR	ORPHA:3303
HP:0000153	Abnormality of the mouth	2627	GATA6	ORPHA:3303
HP:0000153	Abnormality of the mouth	2657	GDF1	ORPHA:3303
HP:0000153	Abnormality of the mouth	182	JAG1	ORPHA:3303
HP:0000153	Abnormality of the mouth	140628	GATA5	ORPHA:3303
HP:0000153	Abnormality of the mouth	2324	FLT4	ORPHA:3303
HP:0000153	Abnormality of the mouth	10370	CITED2	ORPHA:3303
HP:0000153	Abnormality of the mouth	90161	HS6ST2	OMIM:301025
HP:0000153	Abnormality of the mouth	9692	PRORP	OMIM:619737
HP:0000153	Abnormality of the mouth	2752	GLUL	OMIM:610015
HP:0000153	Abnormality of the mouth	2332	FMR1	ORPHA:261483
HP:0000153	Abnormality of the mouth	8815	BANF1	OMIM:614008
HP:0000153	Abnormality of the mouth	4693	NDP	ORPHA:649
HP:0000153	Abnormality of the mouth	56052	ALG1	OMIM:608540
HP:0000153	Abnormality of the mouth	54872	PIGG	ORPHA:280
HP:0000153	Abnormality of the mouth	7469	NELFA	ORPHA:280
HP:0000153	Abnormality of the mouth	6711	SPTBN1	OMIM:619475
HP:0000153	Abnormality of the mouth	55107	ANO1	OMIM:620045
HP:0000153	Abnormality of the mouth	79718	TBL1XR1	OMIM:602342
HP:0000153	Abnormality of the mouth	79718	TBL1XR1	ORPHA:487825
HP:0000153	Abnormality of the mouth	5881	RAC3	OMIM:618577
HP:0000153	Abnormality of the mouth	55780	ERMARD	ORPHA:75857
HP:0000153	Abnormality of the mouth	22884	WDR37	OMIM:618652
HP:0000153	Abnormality of the mouth	5792	PTPRF	OMIM:616001
HP:0000153	Abnormality of the mouth	285362	SUMF1	ORPHA:585
HP:0000153	Abnormality of the mouth	8943	AP3D1	OMIM:617050
HP:0000153	Abnormality of the mouth	84265	POLR3GL	OMIM:619234
HP:0000153	Abnormality of the mouth	5052	PRDX1	OMIM:277400
HP:0000153	Abnormality of the mouth	10559	SLC35A1	OMIM:603585
HP:0000153	Abnormality of the mouth	26038	CHD5	OMIM:619873
HP:0000153	Abnormality of the mouth	4849	CNOT3	OMIM:618672
HP:0000153	Abnormality of the mouth	3658	IREB2	OMIM:618451
HP:0000153	Abnormality of the mouth	29926	GMPPA	OMIM:615510
HP:0000153	Abnormality of the mouth	5702	PSMC3	OMIM:619354
HP:0000153	Abnormality of the mouth	51317	PHF21A	ORPHA:52022
HP:0000153	Abnormality of the mouth	83737	ITCH	OMIM:613385
HP:0000153	Abnormality of the mouth	2893	GRIA4	OMIM:617864
HP:0000153	Abnormality of the mouth	11043	MID2	OMIM:300928
HP:0000153	Abnormality of the mouth	2036	EPB41L1	OMIM:614257
HP:0000153	Abnormality of the mouth	51399	TRAPPC4	OMIM:618741
HP:0000153	Abnormality of the mouth	28981	IFT81	OMIM:617895
HP:0000153	Abnormality of the mouth	8425	LTBP4	OMIM:613177
HP:0000153	Abnormality of the mouth	7360	UGP2	OMIM:618744
HP:0000153	Abnormality of the mouth	3021	H3-3B	OMIM:619721
HP:0000153	Abnormality of the mouth	51741	WWOX	OMIM:616211
HP:0000153	Abnormality of the mouth	55790	CSGALNACT1	OMIM:618870
HP:0000153	Abnormality of the mouth	79868	ALG13	ORPHA:324422
HP:0000153	Abnormality of the mouth	818	CAMK2G	OMIM:618522
HP:0000153	Abnormality of the mouth	79184	BRCC3	ORPHA:280679
HP:0000153	Abnormality of the mouth	55714	TENM3	OMIM:615145
HP:0000153	Abnormality of the mouth	55012	PPP2R3C	OMIM:618419
HP:0000153	Abnormality of the mouth	1499	CTNNB1	ORPHA:404473
HP:0000153	Abnormality of the mouth	1499	CTNNB1	OMIM:615075
HP:0000153	Abnormality of the mouth	29081	METTL5	OMIM:618665
HP:0000153	Abnormality of the mouth	51633	OTUD6B	OMIM:617452
HP:0000153	Abnormality of the mouth	51633	OTUD6B	ORPHA:505237
HP:0000153	Abnormality of the mouth	2683	B4GALT1	ORPHA:79332
HP:0000153	Abnormality of the mouth	84188	FAR1	OMIM:616154
HP:0000153	Abnormality of the mouth	84188	FAR1	ORPHA:438178
HP:0000153	Abnormality of the mouth	4921	DDR2	OMIM:271665
HP:0000153	Abnormality of the mouth	30000	TNPO2	OMIM:619556
HP:0000153	Abnormality of the mouth	3417	IDH1	ORPHA:99646
HP:0000153	Abnormality of the mouth	16	AARS1	OMIM:619691
HP:0000153	Abnormality of the mouth	54496	PRMT7	OMIM:617157
HP:0000153	Abnormality of the mouth	54496	PRMT7	ORPHA:464288
HP:0000153	Abnormality of the mouth	10082	GPC6	OMIM:258315
HP:0000153	Abnormality of the mouth	10082	GPC6	ORPHA:93329
HP:0000153	Abnormality of the mouth	551	AVP	OMIM:125700
HP:0000153	Abnormality of the mouth	5831	PYCR1	OMIM:612940
HP:0000153	Abnormality of the mouth	29920	PYCR2	ORPHA:481152
HP:0000153	Abnormality of the mouth	29920	PYCR2	OMIM:616420
HP:0000153	Abnormality of the mouth	164	AP1G1	OMIM:619467
HP:0000153	Abnormality of the mouth	11212	PLPBP	OMIM:617290
HP:0000153	Abnormality of the mouth	8812	CCNK	OMIM:618147
HP:0000153	Abnormality of the mouth	440138	ALG11	ORPHA:280071
HP:0000153	Abnormality of the mouth	4781	NFIB	OMIM:618286
HP:0000153	Abnormality of the mouth	51594	NBAS	OMIM:614800
HP:0000153	Abnormality of the mouth	3295	HSD17B4	OMIM:261515
HP:0000153	Abnormality of the mouth	55901	THSD1	OMIM:620244
HP:0000153	Abnormality of the mouth	6309	SC5D	ORPHA:46059
HP:0000153	Abnormality of the mouth	6309	SC5D	OMIM:607330
HP:0000153	Abnormality of the mouth	25782	RAB3GAP2	OMIM:212720
HP:0000153	Abnormality of the mouth	1185	CLCN6	OMIM:619173
HP:0000153	Abnormality of the mouth	55148	UBR7	OMIM:619189
HP:0000153	Abnormality of the mouth	23265	EXOC7	OMIM:619072
HP:0000153	Abnormality of the mouth	51660	MPC1	OMIM:614741
HP:0000153	Abnormality of the mouth	23345	SYNE1	ORPHA:319332
HP:0000153	Abnormality of the mouth	55719	SLF2	OMIM:620184
HP:0000153	Abnormality of the mouth	283209	PGM2L1	OMIM:620191
HP:0000153	Abnormality of the mouth	5591	PRKDC	OMIM:615966
HP:0000153	Abnormality of the mouth	80324	PUS1	ORPHA:2598
HP:0000153	Abnormality of the mouth	51067	YARS2	ORPHA:2598
HP:0000153	Abnormality of the mouth	28962	OSTM1	OMIM:259720
HP:0000153	Abnormality of the mouth	55023	PHIP	ORPHA:589905
HP:0000153	Abnormality of the mouth	55023	PHIP	OMIM:617991
HP:0000153	Abnormality of the mouth	10586	MAB21L2	OMIM:615877
HP:0000153	Abnormality of the mouth	85358	SHANK3	OMIM:606232
HP:0000153	Abnormality of the mouth	5160	PDHA1	OMIM:312170
HP:0000153	Abnormality of the mouth	169792	GLIS3	OMIM:610199
HP:0000153	Abnormality of the mouth	79731	NARS2	ORPHA:79134
HP:0000153	Abnormality of the mouth	5053	PAH	ORPHA:2209
HP:0000153	Abnormality of the mouth	10352	WARS2	OMIM:617710
HP:0000153	Abnormality of the mouth	1000	CDH2	OMIM:618929
HP:0000153	Abnormality of the mouth	1861	TOR1A	OMIM:618947
HP:0000153	Abnormality of the mouth	4659	PPP1R12A	OMIM:618820
HP:0000153	Abnormality of the mouth	91461	PKDCC	OMIM:618821
HP:0000153	Abnormality of the mouth	28957	MRPS28	OMIM:618958
HP:0000153	Abnormality of the mouth	113246	C12orf57	OMIM:218340
HP:0000153	Abnormality of the mouth	6591	SNAI2	ORPHA:2884
HP:0000153	Abnormality of the mouth	3815	KIT	ORPHA:2884
HP:0000153	Abnormality of the mouth	523	ATP6V1A	ORPHA:357074
HP:0000153	Abnormality of the mouth	84700	MYO18B	OMIM:616549
HP:0000153	Abnormality of the mouth	23404	EXOSC2	OMIM:617763
HP:0000153	Abnormality of the mouth	92935	MARS2	OMIM:616430
HP:0000153	Abnormality of the mouth	22861	NLRP1	OMIM:615225
HP:0000153	Abnormality of the mouth	9181	ARHGEF2	OMIM:617523
HP:0000153	Abnormality of the mouth	10749	KIF1C	ORPHA:397946
HP:0000153	Abnormality of the mouth	51728	POLR3K	OMIM:619310
HP:0000153	Abnormality of the mouth	51	ACOX1	ORPHA:2971
HP:0000153	Abnormality of the mouth	55593	OTUD5	OMIM:301056
HP:0000153	Abnormality of the mouth	387119	CEP85L	OMIM:618873
HP:0000153	Abnormality of the mouth	6926	TBX3	ORPHA:3138
HP:0000153	Abnormality of the mouth	6926	TBX3	OMIM:181450
HP:0000153	Abnormality of the mouth	3737	KCNA2	ORPHA:442835
HP:0000153	Abnormality of the mouth	8120	AP3B2	ORPHA:442835
HP:0000153	Abnormality of the mouth	10991	SLC38A3	ORPHA:442835
HP:0000153	Abnormality of the mouth	51343	FZR1	ORPHA:442835
HP:0000153	Abnormality of the mouth	22906	TRAK1	ORPHA:442835
HP:0000153	Abnormality of the mouth	2561	GABRB2	ORPHA:442835
HP:0000153	Abnormality of the mouth	7532	YWHAG	ORPHA:442835
HP:0000153	Abnormality of the mouth	79876	UBA5	ORPHA:442835
HP:0000153	Abnormality of the mouth	6328	SCN3A	ORPHA:442835
HP:0000153	Abnormality of the mouth	2558	GABRA5	ORPHA:442835
HP:0000153	Abnormality of the mouth	116150	NUS1	ORPHA:442835
HP:0000153	Abnormality of the mouth	10659	CELF2	ORPHA:442835
HP:0000153	Abnormality of the mouth	774	CACNA1B	ORPHA:442835
HP:0000153	Abnormality of the mouth	23334	SZT2	ORPHA:442835
HP:0000153	Abnormality of the mouth	348980	HCN1	ORPHA:442835
HP:0000153	Abnormality of the mouth	8867	SYNJ1	ORPHA:442835
HP:0000153	Abnormality of the mouth	2258	FGF13	ORPHA:442835
HP:0000153	Abnormality of the mouth	3745	KCNB1	ORPHA:442835
HP:0000153	Abnormality of the mouth	25977	NECAP1	ORPHA:442835
HP:0000153	Abnormality of the mouth	6334	SCN8A	ORPHA:442835
HP:0000153	Abnormality of the mouth	22866	CNKSR2	ORPHA:442835
HP:0000153	Abnormality of the mouth	2555	GABRA2	ORPHA:442835
HP:0000153	Abnormality of the mouth	55152	DALRD3	ORPHA:442835
HP:0000153	Abnormality of the mouth	4915	NTRK2	ORPHA:442835
HP:0000153	Abnormality of the mouth	64801	ARV1	ORPHA:442835
HP:0000153	Abnormality of the mouth	79947	DHDDS	ORPHA:442835
HP:0000153	Abnormality of the mouth	2257	FGF12	ORPHA:442835
HP:0000153	Abnormality of the mouth	11342	RNF13	ORPHA:544503
HP:0000153	Abnormality of the mouth	229	ALDOB	OMIM:229600
HP:0000153	Abnormality of the mouth	84701	COX4I2	OMIM:612714
HP:0000153	Abnormality of the mouth	8643	PTCH2	ORPHA:377
HP:0000153	Abnormality of the mouth	166929	SGMS2	OMIM:126550
HP:0000153	Abnormality of the mouth	80067	DCAF17	OMIM:241080
HP:0000153	Abnormality of the mouth	80067	DCAF17	ORPHA:3464
HP:0000153	Abnormality of the mouth	25871	NEPRO	OMIM:618853
HP:0000153	Abnormality of the mouth	56172	ANKH	OMIM:123000
HP:0000153	Abnormality of the mouth	9895	TECPR2	OMIM:615031
HP:0000153	Abnormality of the mouth	9895	TECPR2	ORPHA:320385
HP:0000153	Abnormality of the mouth	57498	KIDINS220	OMIM:617296
HP:0000153	Abnormality of the mouth	284361	EMC10	OMIM:619264
HP:0000153	Abnormality of the mouth	816	CAMK2B	OMIM:617799
HP:0000153	Abnormality of the mouth	10083	USH1C	ORPHA:231169
HP:0000153	Abnormality of the mouth	124590	USH1G	ORPHA:231169
HP:0000153	Abnormality of the mouth	83715	ESPN	ORPHA:231169
HP:0000153	Abnormality of the mouth	10518	CIB2	ORPHA:231169
HP:0000153	Abnormality of the mouth	65217	PCDH15	ORPHA:231169
HP:0000153	Abnormality of the mouth	8200	GDF5	ORPHA:63442
HP:0000153	Abnormality of the mouth	6821	SUOX	OMIM:272300
HP:0000153	Abnormality of the mouth	54	ACP5	ORPHA:1855
HP:0000153	Abnormality of the mouth	7040	TGFB1	ORPHA:1328
HP:0000153	Abnormality of the mouth	60676	PAPPA2	OMIM:619489
HP:0000153	Abnormality of the mouth	5744	PTHLH	OMIM:613382
HP:0000153	Abnormality of the mouth	6506	SLC1A2	OMIM:617105
HP:0000153	Abnormality of the mouth	26115	TANC2	OMIM:618906
HP:0000153	Abnormality of the mouth	90	ACVR1	OMIM:135100
HP:0000153	Abnormality of the mouth	3340	NDST1	OMIM:616116
HP:0000153	Abnormality of the mouth	4677	NARS1	OMIM:619092
HP:0000153	Abnormality of the mouth	7102	TSPAN7	OMIM:300210
HP:0000153	Abnormality of the mouth	5130	PCYT1A	OMIM:608940
HP:0000153	Abnormality of the mouth	5361	PLXNA1	OMIM:619955
HP:0000153	Abnormality of the mouth	92255	LMBRD2	OMIM:619694
HP:0000153	Abnormality of the mouth	341208	HEPHL1	OMIM:261990
HP:0000153	Abnormality of the mouth	50964	SOST	OMIM:269500
HP:0000153	Abnormality of the mouth	7407	VARS1	OMIM:617802
HP:0000153	Abnormality of the mouth	4868	NPHS1	ORPHA:839
HP:0000153	Abnormality of the mouth	4792	NFKBIA	OMIM:612132
HP:0000153	Abnormality of the mouth	51109	RDH11	ORPHA:436245
HP:0000153	Abnormality of the mouth	79879	CCDC134	OMIM:619795
HP:0000153	Abnormality of the mouth	5034	P4HB	OMIM:112240
HP:0000153	Abnormality of the mouth	10491	CRTAP	OMIM:610682
HP:0000153	Abnormality of the mouth	5479	PPIB	OMIM:259440
HP:0000153	Abnormality of the mouth	1278	COL1A2	OMIM:259420
HP:0000153	Abnormality of the mouth	1278	COL1A2	OMIM:166220
HP:0000153	Abnormality of the mouth	6678	SPARC	OMIM:616507
HP:0000153	Abnormality of the mouth	387733	IFITM5	OMIM:610967
HP:0000153	Abnormality of the mouth	9871	SEC24D	OMIM:616294
HP:0000153	Abnormality of the mouth	5176	SERPINF1	OMIM:613982
HP:0000153	Abnormality of the mouth	649	BMP1	OMIM:614856
HP:0000153	Abnormality of the mouth	871	SERPINH1	OMIM:613848
HP:0000153	Abnormality of the mouth	64175	P3H1	OMIM:610915
HP:0000153	Abnormality of the mouth	3689	ITGB2	OMIM:116920
HP:0000153	Abnormality of the mouth	8546	AP3B1	OMIM:608233
HP:0000153	Abnormality of the mouth	5340	PLG	ORPHA:722
HP:0000153	Abnormality of the mouth	5340	PLG	OMIM:217090
HP:0000153	Abnormality of the mouth	6603	SMARCD2	OMIM:617475
HP:0000153	Abnormality of the mouth	84876	ORAI1	OMIM:612782
HP:0000153	Abnormality of the mouth	6786	STIM1	OMIM:612783
HP:0000153	Abnormality of the mouth	55858	TMEM165	OMIM:614727
HP:0000153	Abnormality of the mouth	149461	CLDN19	OMIM:248190
HP:0000153	Abnormality of the mouth	9131	AIFM1	ORPHA:238329
HP:0000153	Abnormality of the mouth	9131	AIFM1	OMIM:300816
HP:0000153	Abnormality of the mouth	10558	SPTLC1	OMIM:162400
HP:0000153	Abnormality of the mouth	427	ASAH1	OMIM:159950
HP:0000153	Abnormality of the mouth	6904	TBCD	OMIM:617193
HP:0000153	Abnormality of the mouth	11340	EXOSC8	OMIM:616081
HP:0000153	Abnormality of the mouth	11340	EXOSC8	ORPHA:2254
HP:0000153	Abnormality of the mouth	23250	ATP11A	OMIM:619851
HP:0000153	Abnormality of the mouth	5393	EXOSC9	OMIM:618065
HP:0000153	Abnormality of the mouth	5393	EXOSC9	ORPHA:2254
HP:0000153	Abnormality of the mouth	4724	NDUFS4	OMIM:252010
HP:0000153	Abnormality of the mouth	7317	UBA1	ORPHA:1145
HP:0000153	Abnormality of the mouth	7317	UBA1	OMIM:301830
HP:0000153	Abnormality of the mouth	64856	VWA1	OMIM:619216
HP:0000153	Abnormality of the mouth	55005	RMND1	OMIM:614922
HP:0000153	Abnormality of the mouth	23287	AGTPBP1	ORPHA:2254
HP:0000153	Abnormality of the mouth	23287	AGTPBP1	OMIM:618276
HP:0000153	Abnormality of the mouth	7443	VRK1	ORPHA:2254
HP:0000153	Abnormality of the mouth	7443	VRK1	OMIM:607596
HP:0000153	Abnormality of the mouth	6606	SMN1	OMIM:271150
HP:0000153	Abnormality of the mouth	6606	SMN1	OMIM:253300
HP:0000153	Abnormality of the mouth	6606	SMN1	OMIM:253400
HP:0000153	Abnormality of the mouth	6606	SMN1	OMIM:253550
HP:0000153	Abnormality of the mouth	8087	FXR1	OMIM:618822
HP:0000153	Abnormality of the mouth	8087	FXR1	OMIM:618823
HP:0000153	Abnormality of the mouth	6607	SMN2	OMIM:253400
HP:0000153	Abnormality of the mouth	79581	SLC52A2	OMIM:614707
HP:0000153	Abnormality of the mouth	112476	PRRT2	ORPHA:569
HP:0000153	Abnormality of the mouth	54936	ADPRS	OMIM:618170
HP:0000153	Abnormality of the mouth	7259	TSPYL1	OMIM:608800
HP:0000153	Abnormality of the mouth	127833	SYT2	OMIM:619461
HP:0000153	Abnormality of the mouth	89874	SLC25A21	OMIM:618811
HP:0000153	Abnormality of the mouth	4359	MPZ	OMIM:145900
HP:0000153	Abnormality of the mouth	1959	EGR2	OMIM:145900
HP:0000153	Abnormality of the mouth	57716	PRX	OMIM:145900
HP:0000153	Abnormality of the mouth	158326	FREM1	OMIM:608980
HP:0000153	Abnormality of the mouth	738	VPS51	OMIM:618606
HP:0000153	Abnormality of the mouth	64388	GREM2	OMIM:617275
HP:0000153	Abnormality of the mouth	9653	HS2ST1	OMIM:619194
HP:0000153	Abnormality of the mouth	50801	KCNK4	OMIM:618381
HP:0000153	Abnormality of the mouth	253738	EBF3	OMIM:617330
HP:0000153	Abnormality of the mouth	8367	H4C5	OMIM:619950
HP:0000153	Abnormality of the mouth	8294	H4C9	OMIM:619951
HP:0000153	Abnormality of the mouth	94005	PIGS	OMIM:618143
HP:0000153	Abnormality of the mouth	3572	IL6ST	OMIM:619750
HP:0000153	Abnormality of the mouth	4683	NBN	OMIM:251260
HP:0000153	Abnormality of the mouth	4683	NBN	ORPHA:647
HP:0000153	Abnormality of the mouth	51126	NAA20	OMIM:619717
HP:0000153	Abnormality of the mouth	6885	MAP3K7	OMIM:617137
HP:0000153	Abnormality of the mouth	26053	AUTS2	OMIM:615834
HP:0000153	Abnormality of the mouth	673	BRAF	OMIM:115150
HP:0000153	Abnormality of the mouth	55627	SMPD4	OMIM:618622
HP:0000153	Abnormality of the mouth	8818	DPM2	ORPHA:329178
HP:0000153	Abnormality of the mouth	2131	EXT1	ORPHA:502
HP:0000153	Abnormality of the mouth	55209	SETD5	ORPHA:404440
HP:0000153	Abnormality of the mouth	7707	ZNF148	OMIM:617260
HP:0000153	Abnormality of the mouth	4893	NRAS	OMIM:137550
HP:0000153	Abnormality of the mouth	1806	DPYD	ORPHA:1675
HP:0000153	Abnormality of the mouth	5500	PPP1CB	OMIM:617506
HP:0000153	Abnormality of the mouth	5500	PPP1CB	ORPHA:2701
HP:0000153	Abnormality of the mouth	64093	SMOC1	OMIM:206920
HP:0000153	Abnormality of the mouth	9915	ARNT2	OMIM:615926
HP:0000153	Abnormality of the mouth	6925	TCF4	OMIM:610954
HP:0000153	Abnormality of the mouth	57231	SNX14	ORPHA:397709
HP:0000153	Abnormality of the mouth	4626	MYH8	OMIM:158300
HP:0000153	Abnormality of the mouth	4256	MGP	OMIM:245150
HP:0000153	Abnormality of the mouth	114034	TOE1	OMIM:614969
HP:0000153	Abnormality of the mouth	3339	HSPG2	OMIM:255800
HP:0000153	Abnormality of the mouth	22856	CHSY1	OMIM:605282
HP:0000153	Abnormality of the mouth	8726	EED	ORPHA:3447
HP:0000153	Abnormality of the mouth	23512	SUZ12	ORPHA:3447
HP:0000153	Abnormality of the mouth	2146	EZH2	ORPHA:3447
HP:0000153	Abnormality of the mouth	7546	ZIC2	OMIM:609637
HP:0000153	Abnormality of the mouth	6792	CDKL5	ORPHA:505652
HP:0000153	Abnormality of the mouth	6261	RYR1	OMIM:619542
HP:0000153	Abnormality of the mouth	3832	KIF11	OMIM:152950
HP:0000153	Abnormality of the mouth	5087	PBX1	OMIM:617641
HP:0000153	Abnormality of the mouth	5567	PRKACB	OMIM:619143
HP:0000153	Abnormality of the mouth	26173	INTS1	OMIM:618571
HP:0000153	Abnormality of the mouth	867	CBL	OMIM:613563
HP:0000153	Abnormality of the mouth	8036	SHOC2	ORPHA:2701
HP:0000153	Abnormality of the mouth	51025	PAM16	OMIM:613320
HP:0000153	Abnormality of the mouth	4858	NOVA2	OMIM:618859
HP:0000153	Abnormality of the mouth	7020	TFAP2A	ORPHA:1297
HP:0000153	Abnormality of the mouth	2783	GNB2	OMIM:619503
HP:0000153	Abnormality of the mouth	7319	UBE2A	ORPHA:163956
HP:0000153	Abnormality of the mouth	196528	ARID2	OMIM:617808
HP:0000153	Abnormality of the mouth	9343	EFTUD2	OMIM:610536
HP:0000153	Abnormality of the mouth	6888	TALDO1	OMIM:606003
HP:0000153	Abnormality of the mouth	5813	PURA	ORPHA:314655
HP:0000153	Abnormality of the mouth	3192	HNRNPU	ORPHA:238769
HP:0000153	Abnormality of the mouth	6595	SMARCA2	OMIM:619293
HP:0000153	Abnormality of the mouth	2239	GPC4	OMIM:301026
HP:0000153	Abnormality of the mouth	2239	GPC4	ORPHA:2662
HP:0000153	Abnormality of the mouth	5898	RALA	OMIM:619311
HP:0000153	Abnormality of the mouth	7355	SLC35A2	OMIM:300896
HP:0000153	Abnormality of the mouth	1182	CLCN3	OMIM:619512
HP:0000153	Abnormality of the mouth	9320	TRIP12	OMIM:617752
HP:0000153	Abnormality of the mouth	51604	PIGT	ORPHA:369837
HP:0000153	Abnormality of the mouth	145173	B3GLCT	OMIM:261540
HP:0000153	Abnormality of the mouth	145173	B3GLCT	ORPHA:709
HP:0000153	Abnormality of the mouth	6659	SOX4	OMIM:618506
HP:0000153	Abnormality of the mouth	81857	MED25	ORPHA:464738
HP:0000153	Abnormality of the mouth	1788	DNMT3A	OMIM:615879
HP:0000153	Abnormality of the mouth	4897	NRCAM	OMIM:619833
HP:0000153	Abnormality of the mouth	93627	TBCK	OMIM:616900
HP:0000153	Abnormality of the mouth	79753	SNIP1	OMIM:614501
HP:0000153	Abnormality of the mouth	773	CACNA1A	ORPHA:2131
HP:0000153	Abnormality of the mouth	6507	SLC1A3	ORPHA:2131
HP:0000153	Abnormality of the mouth	477	ATP1A2	ORPHA:2131
HP:0000153	Abnormality of the mouth	478	ATP1A3	ORPHA:2131
HP:0000153	Abnormality of the mouth	64359	NXN	ORPHA:1507
HP:0000153	Abnormality of the mouth	4920	ROR2	ORPHA:1507
HP:0000153	Abnormality of the mouth	3190	HNRNPK	ORPHA:352665
HP:0000153	Abnormality of the mouth	3190	HNRNPK	ORPHA:453504
HP:0000153	Abnormality of the mouth	11198	SUPT16H	OMIM:619480
HP:0000153	Abnormality of the mouth	374654	KIF7	OMIM:200990
HP:0000153	Abnormality of the mouth	3020	H3-3A	OMIM:619720
HP:0000153	Abnormality of the mouth	388015	RTL1	ORPHA:254528
HP:0000153	Abnormality of the mouth	8788	DLK1	ORPHA:254528
HP:0000153	Abnormality of the mouth	55384	MEG3	ORPHA:254528
HP:0000153	Abnormality of the mouth	9442	MED27	OMIM:619286
HP:0000153	Abnormality of the mouth	57178	ZMIZ1	OMIM:618659
HP:0000153	Abnormality of the mouth	9772	TMEM94	OMIM:618316
HP:0000153	Abnormality of the mouth	55770	EXOC2	OMIM:619306
HP:0000153	Abnormality of the mouth	3720	JARID2	OMIM:620098
HP:0000153	Abnormality of the mouth	58499	ZNF462	OMIM:618619
HP:0000153	Abnormality of the mouth	4297	KMT2A	OMIM:605130
HP:0000153	Abnormality of the mouth	84706	GPT2	OMIM:616281
HP:0000153	Abnormality of the mouth	84706	GPT2	ORPHA:477673
HP:0000153	Abnormality of the mouth	10059	DNM1L	OMIM:614388
HP:0000153	Abnormality of the mouth	10159	ATP6AP2	ORPHA:93952
HP:0000153	Abnormality of the mouth	10159	ATP6AP2	OMIM:300423
HP:0000153	Abnormality of the mouth	6567	SLC16A2	OMIM:300523
HP:0000153	Abnormality of the mouth	5010	CLDN11	OMIM:619328
HP:0000153	Abnormality of the mouth	2192	FBLN1	ORPHA:404451
HP:0000153	Abnormality of the mouth	84679	SLC9A7	OMIM:301024
HP:0000153	Abnormality of the mouth	8925	HERC1	ORPHA:457359
HP:0000153	Abnormality of the mouth	10588	MTHFS	OMIM:618367
HP:0000153	Abnormality of the mouth	63035	BCORL1	OMIM:301029
HP:0000153	Abnormality of the mouth	51319	RSRC1	OMIM:618402
HP:0000153	Abnormality of the mouth	311	ANXA11	OMIM:619733
HP:0000153	Abnormality of the mouth	8398	PLA2G6	ORPHA:35069
HP:0000153	Abnormality of the mouth	80856	LNPK	OMIM:618090
HP:0000153	Abnormality of the mouth	10087	CERT1	OMIM:616351
HP:0000153	Abnormality of the mouth	2906	GRIN2D	OMIM:617162
HP:0000153	Abnormality of the mouth	128989	TANGO2	OMIM:616878
HP:0000153	Abnormality of the mouth	27107	ZBTB11	OMIM:618383
HP:0000153	Abnormality of the mouth	10846	PDE10A	ORPHA:494526
HP:0000153	Abnormality of the mouth	10846	PDE10A	OMIM:616921
HP:0000153	Abnormality of the mouth	3747	KCNC2	OMIM:619913
HP:0000153	Abnormality of the mouth	2903	GRIN2A	ORPHA:163721
HP:0000153	Abnormality of the mouth	2903	GRIN2A	ORPHA:1945
HP:0000153	Abnormality of the mouth	4361	MRE11	ORPHA:251347
HP:0000153	Abnormality of the mouth	6335	SCN9A	ORPHA:33069
HP:0000153	Abnormality of the mouth	57526	PCDH19	ORPHA:33069
HP:0000153	Abnormality of the mouth	2566	GABRG2	ORPHA:33069
HP:0000153	Abnormality of the mouth	2566	GABRG2	ORPHA:1945
HP:0000153	Abnormality of the mouth	1737	DLAT	OMIM:245348
HP:0000153	Abnormality of the mouth	347733	TUBB2B	OMIM:610031
HP:0000153	Abnormality of the mouth	5376	PMP22	ORPHA:98916
HP:0000153	Abnormality of the mouth	6509	SLC1A4	OMIM:616657
HP:0000153	Abnormality of the mouth	540	ATP7B	OMIM:277900
HP:0000153	Abnormality of the mouth	9568	GABBR2	OMIM:617904
HP:0000153	Abnormality of the mouth	84628	NTNG2	OMIM:618718
HP:0000153	Abnormality of the mouth	55739	NAXD	OMIM:618321
HP:0000153	Abnormality of the mouth	5455	POU3F3	OMIM:618604
HP:0000153	Abnormality of the mouth	84842	HPDL	OMIM:619026
HP:0000153	Abnormality of the mouth	55703	POLR3B	OMIM:607694
HP:0000153	Abnormality of the mouth	161742	SPRED1	OMIM:611431
HP:0000153	Abnormality of the mouth	137682	NDUFAF6	OMIM:618239
HP:0000153	Abnormality of the mouth	26153	KIF26A	OMIM:620156
HP:0000153	Abnormality of the mouth	57551	TAOK1	OMIM:619575
HP:0000153	Abnormality of the mouth	8888	MCM3AP	OMIM:618124
HP:0000153	Abnormality of the mouth	4141	MARS1	OMIM:619692
HP:0000153	Abnormality of the mouth	1272	CNTN1	OMIM:612540
HP:0000153	Abnormality of the mouth	84100	ARL6	OMIM:209900
HP:0000153	Abnormality of the mouth	79140	CCDC28B	OMIM:209900
HP:0000153	Abnormality of the mouth	582	BBS1	OMIM:209900
HP:0000153	Abnormality of the mouth	5351	PLOD1	ORPHA:1900
HP:0000153	Abnormality of the mouth	388662	SLC6A17	ORPHA:457212
HP:0000153	Abnormality of the mouth	8558	CDK10	OMIM:617694
HP:0000153	Abnormality of the mouth	368	ABCC6	OMIM:177850
HP:0000153	Abnormality of the mouth	56098	PCDHGC4	OMIM:619880
HP:0000153	Abnormality of the mouth	1315	COPB1	OMIM:619255
HP:0000153	Abnormality of the mouth	404672	GTF2H5	ORPHA:33364
HP:0000153	Abnormality of the mouth	136647	MPLKIP	ORPHA:33364
HP:0000153	Abnormality of the mouth	6897	TARS1	ORPHA:33364
HP:0000153	Abnormality of the mouth	2961	GTF2E2	ORPHA:33364
HP:0000153	Abnormality of the mouth	27445	PCLO	OMIM:608027
HP:0000153	Abnormality of the mouth	4629	MYH11	ORPHA:91387
HP:0000153	Abnormality of the mouth	4015	LOX	ORPHA:91387
HP:0000153	Abnormality of the mouth	59	ACTA2	ORPHA:91387
HP:0000153	Abnormality of the mouth	5592	PRKG1	ORPHA:91387
HP:0000153	Abnormality of the mouth	2301	FOXE3	ORPHA:91387
HP:0000153	Abnormality of the mouth	4144	MAT2A	ORPHA:91387
HP:0000153	Abnormality of the mouth	23493	HEY2	ORPHA:91387
HP:0000153	Abnormality of the mouth	8076	MFAP5	ORPHA:91387
HP:0000153	Abnormality of the mouth	4638	MYLK	ORPHA:91387
HP:0000153	Abnormality of the mouth	94	ACVRL1	OMIM:600376
HP:0000153	Abnormality of the mouth	2022	ENG	OMIM:187300
HP:0000153	Abnormality of the mouth	1020	CDK5	OMIM:616342
HP:0000153	Abnormality of the mouth	57531	HACE1	ORPHA:464282
HP:0000153	Abnormality of the mouth	64327	LMBR1	ORPHA:2378
HP:0000153	Abnormality of the mouth	2645	GCK	ORPHA:99885
HP:0000153	Abnormality of the mouth	3651	PDX1	ORPHA:99885
HP:0000153	Abnormality of the mouth	3630	INS	ORPHA:99885
HP:0000153	Abnormality of the mouth	2710	GK	OMIM:307030
HP:0000153	Abnormality of the mouth	3851	KRT4	OMIM:193900
HP:0000153	Abnormality of the mouth	79651	RHBDF2	OMIM:148500
HP:0000153	Abnormality of the mouth	286887	KRT6C	OMIM:615735
HP:0000153	Abnormality of the mouth	6117	RPA1	OMIM:619767
HP:0000153	Abnormality of the mouth	64858	DCLRE1B	OMIM:620133
HP:0000153	Abnormality of the mouth	1277	COL1A1	ORPHA:287
HP:0000153	Abnormality of the mouth	1289	COL5A1	ORPHA:287
HP:0000153	Abnormality of the mouth	1290	COL5A2	ORPHA:287
HP:0000153	Abnormality of the mouth	2591	GALNT3	OMIM:211900
HP:0000153	Abnormality of the mouth	3166	HMX1	OMIM:612109
HP:0000153	Abnormality of the mouth	5805	PTS	ORPHA:13
HP:0000153	Abnormality of the mouth	5805	PTS	OMIM:261640
HP:0000153	Abnormality of the mouth	10320	IKZF1	ORPHA:36426
HP:0000153	Abnormality of the mouth	5860	QDPR	OMIM:261630
HP:0000153	Abnormality of the mouth	57468	SLC12A5	OMIM:616645
HP:0000153	Abnormality of the mouth	2643	GCH1	OMIM:233910
HP:0000153	Abnormality of the mouth	9256	TSPOAP1	ORPHA:101150
HP:0000153	Abnormality of the mouth	7054	TH	ORPHA:101150
HP:0000153	Abnormality of the mouth	8974	P4HA2	ORPHA:397
HP:0000153	Abnormality of the mouth	91574	MTRFR	ORPHA:254930
HP:0000153	Abnormality of the mouth	91574	MTRFR	OMIM:613559
HP:0000153	Abnormality of the mouth	23516	SLC39A14	OMIM:617013
HP:0000153	Abnormality of the mouth	10381	TUBB3	ORPHA:300570
HP:0000153	Abnormality of the mouth	79912	PYROXD1	OMIM:617258
HP:0000153	Abnormality of the mouth	122622	ADSS1	ORPHA:482601
HP:0000153	Abnormality of the mouth	5837	PYGM	ORPHA:368
HP:0000153	Abnormality of the mouth	57190	SELENON	ORPHA:2020
HP:0000153	Abnormality of the mouth	58	ACTA1	ORPHA:2020
HP:0000153	Abnormality of the mouth	4633	MYL2	ORPHA:2020
HP:0000153	Abnormality of the mouth	3679	ITGA7	ORPHA:2020
HP:0000153	Abnormality of the mouth	9200	HACD1	ORPHA:2020
HP:0000153	Abnormality of the mouth	7170	TPM3	ORPHA:2020
HP:0000153	Abnormality of the mouth	51776	MAP3K20	ORPHA:2020
HP:0000153	Abnormality of the mouth	8292	COLQ	ORPHA:98915
HP:0000153	Abnormality of the mouth	3913	LAMB2	ORPHA:98915
HP:0000153	Abnormality of the mouth	23175	LPIN1	ORPHA:99845
HP:0000153	Abnormality of the mouth	4512	MT-CO1	ORPHA:99845
HP:0000153	Abnormality of the mouth	4514	MT-CO3	ORPHA:99845
HP:0000153	Abnormality of the mouth	10667	FARS2	ORPHA:466722
HP:0000153	Abnormality of the mouth	10015	PDCD6IP	OMIM:620047
HP:0000153	Abnormality of the mouth	2132	EXT2	OMIM:616682
HP:0000153	Abnormality of the mouth	401138	AMTN	OMIM:617607
HP:0000153	Abnormality of the mouth	123041	SLC24A4	OMIM:615887
HP:0000153	Abnormality of the mouth	9361	LONP1	OMIM:600373
HP:0000153	Abnormality of the mouth	81607	NECTIN4	OMIM:613573
HP:0000153	Abnormality of the mouth	2778	GNAS	ORPHA:94089
HP:0000153	Abnormality of the mouth	2778	GNAS	OMIM:612463
HP:0000153	Abnormality of the mouth	2778	GNAS	OMIM:612462
HP:0000153	Abnormality of the mouth	2778	GNAS	ORPHA:79443
HP:0000153	Abnormality of the mouth	2778	GNAS	ORPHA:79444
HP:0000153	Abnormality of the mouth	2778	GNAS	OMIM:103580
HP:0000153	Abnormality of the mouth	8675	STX16	ORPHA:94089
HP:0000153	Abnormality of the mouth	3655	ITGA6	ORPHA:79403
HP:0000153	Abnormality of the mouth	3909	LAMA3	ORPHA:79404
HP:0000153	Abnormality of the mouth	3909	LAMA3	OMIM:245660
HP:0000153	Abnormality of the mouth	3909	LAMA3	ORPHA:79402
HP:0000153	Abnormality of the mouth	3909	LAMA3	OMIM:226700
HP:0000153	Abnormality of the mouth	3918	LAMC2	ORPHA:79404
HP:0000153	Abnormality of the mouth	3918	LAMC2	ORPHA:79402
HP:0000153	Abnormality of the mouth	3918	LAMC2	OMIM:226700
HP:0000153	Abnormality of the mouth	57511	COG6	ORPHA:363523
HP:0000153	Abnormality of the mouth	57511	COG6	OMIM:614576
HP:0000153	Abnormality of the mouth	57511	COG6	OMIM:615328
HP:0000153	Abnormality of the mouth	152816	ODAPH	OMIM:614832
HP:0000153	Abnormality of the mouth	3117	HLA-DQA1	OMIM:212750
HP:0000153	Abnormality of the mouth	3119	HLA-DQB1	OMIM:212750
HP:0000153	Abnormality of the mouth	1594	CYP27B1	OMIM:264700
HP:0000153	Abnormality of the mouth	1594	CYP27B1	ORPHA:289157
HP:0000153	Abnormality of the mouth	6304	SATB1	OMIM:619229
HP:0000153	Abnormality of the mouth	57217	TTC7A	OMIM:243150
HP:0000153	Abnormality of the mouth	120227	CYP2R1	ORPHA:289157
HP:0000153	Abnormality of the mouth	80320	SP6	OMIM:620104
HP:0000153	Abnormality of the mouth	9076	CLDN1	OMIM:607626
HP:0000153	Abnormality of the mouth	326	AIRE	OMIM:240300
HP:0000153	Abnormality of the mouth	79977	GRHL2	OMIM:616029
HP:0000153	Abnormality of the mouth	1107	CHD3	OMIM:618205
HP:0000153	Abnormality of the mouth	224	ALDH3A2	OMIM:270200
HP:0000153	Abnormality of the mouth	5062	PAK2	OMIM:618458
HP:0000153	Abnormality of the mouth	10844	TUBGCP2	OMIM:618737
HP:0000153	Abnormality of the mouth	3149	HMGB3	OMIM:300915
HP:0000153	Abnormality of the mouth	1130	LYST	ORPHA:167
HP:0000153	Abnormality of the mouth	23019	CNOT1	ORPHA:556955
HP:0000153	Abnormality of the mouth	4087	SMAD2	OMIM:619657
HP:0000153	Abnormality of the mouth	5587	PRKD1	OMIM:617364
HP:0000153	Abnormality of the mouth	1476	CSTB	ORPHA:248
HP:0000153	Abnormality of the mouth	29887	SNX10	ORPHA:667
HP:0000153	Abnormality of the mouth	23102	TBC1D2B	ORPHA:397973
HP:0000153	Abnormality of the mouth	2067	ERCC1	ORPHA:90322
HP:0000153	Abnormality of the mouth	6424	SFRP4	OMIM:265900
HP:0000153	Abnormality of the mouth	7021	TFAP2B	ORPHA:46627
HP:0000153	Abnormality of the mouth	387	RHOA	OMIM:618727
HP:0000153	Abnormality of the mouth	51341	ZBTB7A	OMIM:619769
HP:0000153	Abnormality of the mouth	63901	FAM111A	ORPHA:93325
HP:0000153	Abnormality of the mouth	8600	TNFSF11	OMIM:259710
HP:0000153	Abnormality of the mouth	50485	SMARCAL1	ORPHA:1830
HP:0000153	Abnormality of the mouth	716	C1S	ORPHA:75392
HP:0000153	Abnormality of the mouth	715	C1R	ORPHA:75392
HP:0000153	Abnormality of the mouth	51715	RAB23	OMIM:201000
HP:0000153	Abnormality of the mouth	64094	SMOC2	OMIM:125400
HP:0000153	Abnormality of the mouth	64135	IFIH1	OMIM:182250
HP:0000153	Abnormality of the mouth	284654	RSPO1	OMIM:610644
HP:0000153	Abnormality of the mouth	4038	LRP4	OMIM:212780
HP:0000153	Abnormality of the mouth	4763	NF1	ORPHA:363700
HP:0000153	Abnormality of the mouth	55131	RBM28	ORPHA:157954
HP:0000153	Abnormality of the mouth	1593	CYP27A1	ORPHA:909
HP:0000153	Abnormality of the mouth	375056	MIA3	OMIM:619269
HP:0000153	Abnormality of the mouth	23328	SASH1	OMIM:618373
HP:0000153	Abnormality of the mouth	112802	KRT71	OMIM:615896
HP:0000153	Abnormality of the mouth	7700	ZNF141	OMIM:615226
HP:0000153	Abnormality of the mouth	3170	FOXA2	ORPHA:95494
HP:0000153	Abnormality of the mouth	51611	DPH5	OMIM:620070
HP:0000153	Abnormality of the mouth	2972	BRF1	ORPHA:444072
HP:0000153	Abnormality of the mouth	5307	PITX1	OMIM:119800
HP:0000153	Abnormality of the mouth	8111	GPR68	OMIM:617217
HP:0000153	Abnormality of the mouth	10117	ENAM	OMIM:204650
HP:0000153	Abnormality of the mouth	286077	FAM83H	OMIM:130900
HP:0000153	Abnormality of the mouth	9622	KLK4	OMIM:204700
HP:0000153	Abnormality of the mouth	9313	MMP20	OMIM:612529
HP:0000153	Abnormality of the mouth	3914	LAMB3	OMIM:104530
HP:0000153	Abnormality of the mouth	3694	ITGB6	OMIM:616221
HP:0000153	Abnormality of the mouth	1804	DPP6	ORPHA:2514
HP:0000153	Abnormality of the mouth	5116	PCNT	ORPHA:2637
HP:0000153	Abnormality of the mouth	5116	PCNT	ORPHA:808
HP:0000153	Abnormality of the mouth	90993	CREB3L1	OMIM:616229
HP:0000153	Abnormality of the mouth	1062	CENPE	ORPHA:808
HP:0000153	Abnormality of the mouth	79902	NUP85	ORPHA:808
HP:0000153	Abnormality of the mouth	84126	ATRIP	ORPHA:808
HP:0000153	Abnormality of the mouth	55835	CENPJ	ORPHA:808
HP:0000153	Abnormality of the mouth	10293	TRAIP	ORPHA:808
HP:0000153	Abnormality of the mouth	10733	PLK4	ORPHA:808
HP:0000153	Abnormality of the mouth	57647	DHX37	OMIM:618731
HP:0000153	Abnormality of the mouth	2690	GHR	ORPHA:633
HP:0000153	Abnormality of the mouth	9241	NOG	OMIM:186500
HP:0000153	Abnormality of the mouth	5371	PML	ORPHA:520
HP:0000153	Abnormality of the mouth	5914	RARA	ORPHA:520
HP:0000153	Abnormality of the mouth	359948	IRF2BP2	ORPHA:520
HP:0000153	Abnormality of the mouth	81608	FIP1L1	ORPHA:520
HP:0000153	Abnormality of the mouth	64859	NABP1	ORPHA:520
HP:0000153	Abnormality of the mouth	6777	STAT5B	ORPHA:520
HP:0000153	Abnormality of the mouth	4926	NUMA1	ORPHA:520
HP:0000153	Abnormality of the mouth	7704	ZBTB16	ORPHA:520
HP:0000153	Abnormality of the mouth	2642	GCGR	ORPHA:438274
HP:0000153	Abnormality of the mouth	3702	ITK	OMIM:613011
HP:0000153	Abnormality of the mouth	399	RHOH	OMIM:618307
HP:0000153	Abnormality of the mouth	10379	IRF9	OMIM:618648
HP:0000153	Abnormality of the mouth	3557	IL1RN	OMIM:612852
HP:0000153	Abnormality of the mouth	25974	MMACHC	ORPHA:79282
HP:0000153	Abnormality of the mouth	7535	ZAP70	ORPHA:911
HP:0000153	Abnormality of the mouth	8942	KYNU	ORPHA:79155
HP:0000153	Abnormality of the mouth	90417	KNSTRN	OMIM:613328
HP:0000153	Abnormality of the mouth	90417	KNSTRN	ORPHA:221139
HP:0000153	Abnormality of the mouth	5293	PIK3CD	OMIM:613328
HP:0000153	Abnormality of the mouth	5293	PIK3CD	ORPHA:221139
HP:0000153	Abnormality of the mouth	84196	USP48	ORPHA:96253
HP:0000153	Abnormality of the mouth	7157	TP53	ORPHA:96253
HP:0000153	Abnormality of the mouth	9101	USP8	ORPHA:96253
HP:0000153	Abnormality of the mouth	64072	CDH23	ORPHA:96253
HP:0000153	Abnormality of the mouth	2908	NR3C1	ORPHA:96253
HP:0000153	Abnormality of the mouth	4967	OGDH	ORPHA:31
HP:0000153	Abnormality of the mouth	10736	SIX2	ORPHA:488437
HP:0000153	Abnormality of the mouth	23426	GRIP1	ORPHA:2052
HP:0000153	Abnormality of the mouth	55112	DYNC2I1	ORPHA:93271
HP:0000153	Abnormality of the mouth	57560	IFT80	ORPHA:93271
HP:0000153	Abnormality of the mouth	89891	DYNC2I2	ORPHA:93271
HP:0000153	Abnormality of the mouth	265	AMELX	OMIM:301200
HP:0000153	Abnormality of the mouth	60401	EDA2R	ORPHA:181
HP:0000153	Abnormality of the mouth	6929	TCF3	OMIM:619824
HP:0000153	Abnormality of the mouth	4131	MAP1B	OMIM:618918
HP:0000153	Abnormality of the mouth	54892	NCAPG2	OMIM:618460
HP:0000153	Abnormality of the mouth	781	CACNA2D1	OMIM:620149
HP:0000153	Abnormality of the mouth	1436	CSF1R	OMIM:618476
HP:0000153	Abnormality of the mouth	23030	KDM4B	OMIM:619320
HP:0000153	Abnormality of the mouth	129685	TAF8	OMIM:619972
HP:0000153	Abnormality of the mouth	2590	GALNT2	OMIM:618885
HP:0000153	Abnormality of the mouth	5119	CHMP1A	OMIM:614961
HP:0000153	Abnormality of the mouth	9581	PREPL	OMIM:616224
HP:0000153	Abnormality of the mouth	26999	CYFIP2	OMIM:618008
HP:0000153	Abnormality of the mouth	10943	MSL3	OMIM:301032
HP:0000153	Abnormality of the mouth	1760	DMPK	ORPHA:589821
HP:0000153	Abnormality of the mouth	92949	ADAMTSL1	ORPHA:521445
HP:0000153	Abnormality of the mouth	10367	MICU1	OMIM:615673
HP:0000153	Abnormality of the mouth	4329	ALDH6A1	OMIM:614105
HP:0000153	Abnormality of the mouth	51124	IER3IP1	OMIM:614231
HP:0000153	Abnormality of the mouth	91875	TTC5	OMIM:619244
HP:0000153	Abnormality of the mouth	9373	PLAA	ORPHA:521426
HP:0000153	Abnormality of the mouth	9373	PLAA	OMIM:617527
HP:0000153	Abnormality of the mouth	23219	FBXO28	OMIM:619777
HP:0000153	Abnormality of the mouth	84081	NSRP1	OMIM:620001
HP:0000153	Abnormality of the mouth	8813	DPM1	ORPHA:79322
HP:0000153	Abnormality of the mouth	2801	GOLGA2	OMIM:620240
HP:0000153	Abnormality of the mouth	129285	PPP1R21	OMIM:619383
HP:0000153	Abnormality of the mouth	1917	EEF1A2	OMIM:616393
HP:0000153	Abnormality of the mouth	221927	BRAT1	OMIM:618056
HP:0000153	Abnormality of the mouth	9230	RAB11B	OMIM:617807
HP:0000153	Abnormality of the mouth	3187	HNRNPH1	OMIM:620083
HP:0000153	Abnormality of the mouth	153642	ARSK	OMIM:619698
HP:0000153	Abnormality of the mouth	55084	SOBP	OMIM:613671
HP:0000153	Abnormality of the mouth	9321	TRIP11	OMIM:200600
HP:0000153	Abnormality of the mouth	4001	LMNB1	OMIM:619179
HP:0000153	Abnormality of the mouth	9289	ADGRG1	ORPHA:98889
HP:0000153	Abnormality of the mouth	5297	PI4KA	ORPHA:98889
HP:0000153	Abnormality of the mouth	27286	SRPX2	ORPHA:98889
HP:0000153	Abnormality of the mouth	6872	TAF1	ORPHA:53351
HP:0000153	Abnormality of the mouth	2898	GRIK2	OMIM:619580
HP:0000153	Abnormality of the mouth	1457	CSNK2A1	OMIM:617062
HP:0000153	Abnormality of the mouth	1193	CLIC2	ORPHA:324410
HP:0000153	Abnormality of the mouth	23230	VPS13A	ORPHA:2388
HP:0000153	Abnormality of the mouth	1759	DNM1	OMIM:620352
HP:0000153	Abnormality of the mouth	1834	DSPP	OMIM:125420
HP:0000153	Abnormality of the mouth	222663	SCUBE3	OMIM:619184
HP:0000153	Abnormality of the mouth	545	ATR	OMIM:614564
HP:0000153	Abnormality of the mouth	8517	IKBKG	OMIM:300291
HP:0000153	Abnormality of the mouth	22827	PUF60	ORPHA:508488
HP:0000153	Abnormality of the mouth	1857	DVL3	ORPHA:3107
HP:0000153	Abnormality of the mouth	2535	FZD2	ORPHA:3107
HP:0000153	Abnormality of the mouth	9508	ADAMTS3	ORPHA:2136
HP:0000153	Abnormality of the mouth	79633	FAT4	ORPHA:2136
HP:0000153	Abnormality of the mouth	6938	TCF12	OMIM:619718
HP:0000153	Abnormality of the mouth	324	APC	OMIM:175100
HP:0000153	Abnormality of the mouth	324	APC	ORPHA:247806
HP:0000153	Abnormality of the mouth	324	APC	ORPHA:79665
HP:0000153	Abnormality of the mouth	23630	KCNE5	ORPHA:86818
HP:0000153	Abnormality of the mouth	2182	ACSL4	ORPHA:86818
HP:0000153	Abnormality of the mouth	2542	SLC37A4	OMIM:619525
HP:0000153	Abnormality of the mouth	2248	FGF3	ORPHA:90024
HP:0000153	Abnormality of the mouth	3861	KRT14	ORPHA:69087
HP:0000153	Abnormality of the mouth	865	CBFB	OMIM:620099
HP:0000153	Abnormality of the mouth	258	AMBN	OMIM:616270
HP:0000153	Abnormality of the mouth	7840	ALMS1	ORPHA:64
HP:0000153	Abnormality of the mouth	7399	USH2A	ORPHA:231178
HP:0000153	Abnormality of the mouth	79955	PDZD7	ORPHA:231178
HP:0000153	Abnormality of the mouth	4647	MYO7A	ORPHA:231178
HP:0000153	Abnormality of the mouth	25861	WHRN	ORPHA:231178
HP:0000153	Abnormality of the mouth	84059	ADGRV1	ORPHA:231178
HP:0000153	Abnormality of the mouth	26504	CNNM4	ORPHA:1873
HP:0000153	Abnormality of the mouth	54757	FAM20A	ORPHA:1031
HP:0000153	Abnormality of the mouth	284111	SLC13A5	ORPHA:1946
HP:0000153	Abnormality of the mouth	79641	ROGDI	ORPHA:1946
HP:0000153	Abnormality of the mouth	1308	COL17A1	ORPHA:251393
HP:0000153	Abnormality of the mouth	3691	ITGB4	ORPHA:251393
HP:0000153	Abnormality of the mouth	3762	KCNJ5	ORPHA:37553
HP:0000153	Abnormality of the mouth	3759	KCNJ2	ORPHA:37553
HP:0000153	Abnormality of the mouth	23028	KDM1A	ORPHA:477993
HP:0000153	Abnormality of the mouth	4487	MSX1	ORPHA:99798
HP:0000153	Abnormality of the mouth	128178	EDARADD	ORPHA:99798
HP:0000153	Abnormality of the mouth	5083	PAX9	ORPHA:99798
HP:0000153	Abnormality of the mouth	7341	SUMO1	ORPHA:99798
HP:0000153	Abnormality of the mouth	80326	WNT10A	ORPHA:99798
HP:0000153	Abnormality of the mouth	1896	EDA	ORPHA:99798
HP:0000153	Abnormality of the mouth	8313	AXIN2	ORPHA:99798
HP:0000153	Abnormality of the mouth	4040	LRP6	ORPHA:99798
HP:0000153	Abnormality of the mouth	7039	TGFA	ORPHA:99798
HP:0000153	Abnormality of the mouth	7480	WNT10B	ORPHA:99798
HP:0000153	Abnormality of the mouth	4000	LMNA	ORPHA:740
HP:0000153	Abnormality of the mouth	10269	ZMPSTE24	ORPHA:740
HP:0000153	Abnormality of the mouth	51305	KCNK9	ORPHA:166108
HP:0000153	Abnormality of the mouth	10664	CTCF	OMIM:615502
HP:0000153	Abnormality of the mouth	6768	ST14	OMIM:602400
HP:0000153	Abnormality of the mouth	84957	RELT	OMIM:618386
HP:0000153	Abnormality of the mouth	256764	WDR72	OMIM:613211
HP:0000153	Abnormality of the mouth	4750	NEK1	ORPHA:2751
HP:0000153	Abnormality of the mouth	54880	BCOR	ORPHA:2712
HP:0000153	Abnormality of the mouth	54880	BCOR	OMIM:300166
HP:0000153	Abnormality of the mouth	9968	MED12	ORPHA:93932
HP:0000153	Abnormality of the mouth	57539	WDR35	OMIM:614091
HP:0000153	Abnormality of the mouth	57539	WDR35	OMIM:613610
HP:0000153	Abnormality of the mouth	4810	NHS	OMIM:302350
HP:0000153	Abnormality of the mouth	2887	GRB10	ORPHA:96182
HP:0000153	Abnormality of the mouth	23111	SPART	ORPHA:101000
HP:0000153	Abnormality of the mouth	57589	RIC1	OMIM:618761
HP:0000153	Abnormality of the mouth	93650	ACP4	OMIM:617297
HP:0000153	Abnormality of the mouth	101929726	MYMX	OMIM:619941
HP:0000153	Abnormality of the mouth	2138	EYA1	OMIM:113650
HP:0000153	Abnormality of the mouth	6495	SIX1	OMIM:113650
HP:0000153	Abnormality of the mouth	2033	EP300	OMIM:613684
HP:0000153	Abnormality of the mouth	57479	PRR12	OMIM:619539
HP:0000153	Abnormality of the mouth	3097	HIVEP2	OMIM:616977
HP:0000153	Abnormality of the mouth	91801	ALKBH8	OMIM:618504
HP:0000153	Abnormality of the mouth	54517	PUS7	OMIM:618342
HP:0000153	Abnormality of the mouth	1053	CEBPE	OMIM:260570
HP:0000153	Abnormality of the mouth	6097	RORC	OMIM:616622
HP:0000153	Abnormality of the mouth	51311	TLR8	OMIM:301078
HP:0000153	Abnormality of the mouth	9948	WDR1	OMIM:150550
HP:0000153	Abnormality of the mouth	146206	CARMIL2	OMIM:618131
HP:0000153	Abnormality of the mouth	148022	TICAM1	OMIM:614850
HP:0000153	Abnormality of the mouth	91662	NLRP12	OMIM:611762
HP:0000153	Abnormality of the mouth	56244	BTNL2	ORPHA:797
HP:0000153	Abnormality of the mouth	3123	HLA-DRB1	ORPHA:797
HP:0000153	Abnormality of the mouth	488	ATP2A2	OMIM:124200
HP:0000153	Abnormality of the mouth	51057	WDPCP	OMIM:217085
HP:0000153	Abnormality of the mouth	51057	WDPCP	ORPHA:1338
HP:0000153	Abnormality of the mouth	4081	MAB21L1	OMIM:618479
HP:0000153	Abnormality of the mouth	55181	SMG8	OMIM:619268
HP:0000153	Abnormality of the mouth	6288	SAA1	ORPHA:85445
HP:0000153	Abnormality of the mouth	1802	DPH2	OMIM:620062
HP:0000153	Abnormality of the mouth	11113	CIT	OMIM:617090
HP:0000153	Abnormality of the mouth	11253	MAN1B1	ORPHA:397941
HP:0000153	Abnormality of the mouth	54084	TSPEAR	OMIM:618180
HP:0000153	Abnormality of the mouth	23363	OBSL1	OMIM:612921
HP:0000153	Abnormality of the mouth	2334	AFF2	ORPHA:100973
HP:0000153	Abnormality of the mouth	2334	AFF2	OMIM:309548
HP:0000153	Abnormality of the mouth	5934	RBL2	OMIM:619690
HP:0000153	Abnormality of the mouth	83999	KREMEN1	OMIM:617392
HP:0000153	Abnormality of the mouth	7965	AIMP2	OMIM:618006
HP:0000153	Abnormality of the mouth	83987	CCDC8	OMIM:614205
HP:0000153	Abnormality of the mouth	22872	SEC31A	OMIM:618651
HP:0000153	Abnormality of the mouth	54681	P4HTM	OMIM:618493
HP:0000153	Abnormality of the mouth	4613	MYCN	OMIM:164280
HP:0000153	Abnormality of the mouth	4338	MOCS2	OMIM:252160
HP:0000153	Abnormality of the mouth	79644	SRD5A3	OMIM:612713
HP:0000153	Abnormality of the mouth	4337	MOCS1	OMIM:252150
HP:0000153	Abnormality of the mouth	85440	DOCK7	ORPHA:411986
HP:0000153	Abnormality of the mouth	85440	DOCK7	OMIM:615859
HP:0000153	Abnormality of the mouth	10283	CWC27	OMIM:250410
HP:0000153	Abnormality of the mouth	7750	ZMYM2	OMIM:619522
HP:0000153	Abnormality of the mouth	2890	GRIA1	OMIM:619927
HP:0000153	Abnormality of the mouth	118924	FRA10AC1	OMIM:620113
HP:0000153	Abnormality of the mouth	2273	FHL1	OMIM:300280
HP:0000153	Abnormality of the mouth	5557	PRIM1	OMIM:620005
HP:0000153	Abnormality of the mouth	79791	FBXO31	OMIM:615979
HP:0000153	Abnormality of the mouth	55367	PIDD1	OMIM:619827
HP:0000153	Abnormality of the mouth	84148	KAT8	OMIM:618974
HP:0000153	Abnormality of the mouth	51013	EXOSC1	OMIM:619304
HP:0000153	Abnormality of the mouth	51099	ABHD5	ORPHA:98907
HP:0000153	Abnormality of the mouth	204219	CERS3	OMIM:615023
HP:0000153	Abnormality of the mouth	2483	FRG1	OMIM:158900
HP:0000153	Abnormality of the mouth	2934	GSN	ORPHA:85448
HP:0000153	Abnormality of the mouth	339855	KY	OMIM:617114
HP:0000153	Abnormality of the mouth	339855	KY	ORPHA:496689
HP:0000153	Abnormality of the mouth	3508	IGHMBP2	OMIM:616155
HP:0000153	Abnormality of the mouth	10528	NOP56	OMIM:614153
HP:0000153	Abnormality of the mouth	10528	NOP56	ORPHA:276198
HP:0000153	Abnormality of the mouth	22880	MORC2	ORPHA:466768
HP:0000153	Abnormality of the mouth	10133	OPTN	OMIM:613435
HP:0000153	Abnormality of the mouth	51010	EXOSC3	OMIM:614678
HP:0000153	Abnormality of the mouth	4747	NEFL	ORPHA:101085
HP:0000153	Abnormality of the mouth	113278	SLC52A3	OMIM:211530
HP:0000153	Abnormality of the mouth	1528	CYB5A	ORPHA:621
HP:0000153	Abnormality of the mouth	1727	CYB5R3	ORPHA:621
HP:0000153	Abnormality of the mouth	8792	TNFRSF11A	OMIM:174810
HP:0000153	Abnormality of the mouth	26525	IL36RN	OMIM:614204
HP:0000153	Abnormality of the mouth	8029	CUBN	ORPHA:35858
HP:0000153	Abnormality of the mouth	81693	AMN	ORPHA:35858
HP:0000153	Abnormality of the mouth	3872	KRT17	OMIM:167210
HP:0000153	Abnormality of the mouth	3872	KRT17	ORPHA:2309
HP:0000153	Abnormality of the mouth	3868	KRT16	ORPHA:2309
HP:0000153	Abnormality of the mouth	3853	KRT6A	ORPHA:2309
HP:0000153	Abnormality of the mouth	3854	KRT6B	ORPHA:2309
HP:0000153	Abnormality of the mouth	6720	SREBF1	OMIM:619016
HP:0000153	Abnormality of the mouth	4194	MDM4	OMIM:618849
HP:0000153	Abnormality of the mouth	7390	UROS	OMIM:263700
HP:0000153	Abnormality of the mouth	7390	UROS	ORPHA:79277
HP:0000153	Abnormality of the mouth	7389	UROD	ORPHA:95159
HP:0000153	Abnormality of the mouth	4914	NTRK1	ORPHA:642
HP:0000153	Abnormality of the mouth	5251	PHEX	ORPHA:89936
HP:0000153	Abnormality of the mouth	8074	FGF23	ORPHA:89937
HP:0000153	Abnormality of the mouth	1758	DMP1	ORPHA:289176
HP:0000153	Abnormality of the mouth	5167	ENPP1	ORPHA:289176
HP:0000153	Abnormality of the mouth	1991	ELANE	ORPHA:2686
HP:0000153	Abnormality of the mouth	1747	DLX3	ORPHA:3352
HP:0000153	Abnormality of the mouth	284	ANGPT1	OMIM:619361
HP:0000153	Abnormality of the mouth	26509	MYOF	OMIM:619366
HP:0000153	Abnormality of the mouth	64711	HS3ST6	OMIM:619367
HP:0000153	Abnormality of the mouth	3827	KNG1	OMIM:619363
HP:0000153	Abnormality of the mouth	11146	GLMN	ORPHA:83454
HP:0000153	Abnormality of the mouth	9630	GNA14	ORPHA:1063
HP:0000153	Abnormality of the mouth	59067	IL21	OMIM:615767
HP:0000153	Abnormality of the mouth	54440	SASH3	OMIM:301082
HP:0000153	Abnormality of the mouth	3569	IL6	OMIM:266600
HP:0000153	Abnormality of the mouth	150468	CKAP2L	OMIM:272440
HP:0000153	Abnormality of the mouth	6868	ADAM17	ORPHA:294023
HP:0000153	Abnormality of the mouth	1956	EGFR	ORPHA:294023
HP:0000153	Abnormality of the mouth	5054	SERPINE1	ORPHA:465
HP:0000153	Abnormality of the mouth	7512	XPNPEP2	ORPHA:100057
HP:0000153	Abnormality of the mouth	710	SERPING1	ORPHA:100050
HP:0000153	Abnormality of the mouth	55969	RAB5IF	OMIM:616994
HP:0000153	Abnormality of the mouth	356	FASLG	ORPHA:3261
HP:0000153	Abnormality of the mouth	5580	PRKCD	ORPHA:3261
HP:0000153	Abnormality of the mouth	843	CASP10	ORPHA:3261
HP:0000153	Abnormality of the mouth	10125	RASGRP1	ORPHA:3261
HP:0000153	Abnormality of the mouth	8314	BAP1	ORPHA:2495
HP:0000153	Abnormality of the mouth	4771	NF2	ORPHA:2495
HP:0000153	Abnormality of the mouth	5155	PDGFB	ORPHA:2495
HP:0000153	Abnormality of the mouth	84231	TRAF7	ORPHA:2495
HP:0000153	Abnormality of the mouth	4609	MYC	ORPHA:543
HP:0000153	Abnormality of the mouth	7486	WRN	ORPHA:902
HP:0000153	Abnormality of the mouth	6794	STK11	ORPHA:2869
HP:0000153	Abnormality of the mouth	4292	MLH1	ORPHA:587
HP:0000153	Abnormality of the mouth	2956	MSH6	ORPHA:587
HP:0000153	Abnormality of the mouth	4436	MSH2	ORPHA:587
HP:0000153	Abnormality of the mouth	4041	LRP5	OMIM:607634
HP:0000153	Abnormality of the mouth	4041	LRP5	ORPHA:2790
HP:0000153	Abnormality of the mouth	4041	LRP5	OMIM:144750
HP:0000153	Abnormality of the mouth	4143	MAT1A	OMIM:250850
HP:0000153	Abnormality of the mouth	8991	SELENBP1	OMIM:618148
HP:0000153	Abnormality of the mouth	6340	SCNN1G	ORPHA:60033
HP:0000153	Abnormality of the mouth	1080	CFTR	ORPHA:60033
HP:0000153	Abnormality of the mouth	6337	SCNN1A	ORPHA:60033
HP:0000153	Abnormality of the mouth	6338	SCNN1B	ORPHA:60033
HP:0000153	Abnormality of the mouth	215	ABCD1	ORPHA:139399
HP:0000153	Abnormality of the mouth	641	BLM	ORPHA:125
HP:0000153	Abnormality of the mouth	55630	SLC39A4	ORPHA:37
HP:0000153	Abnormality of the mouth	51360	MBTPS2	ORPHA:2273
HP:0000153	Abnormality of the mouth	5317	PKP1	ORPHA:158668
HP:0000153	Abnormality of the mouth	831	CAST	OMIM:616295
HP:0000153	Abnormality of the mouth	55612	FERMT1	ORPHA:2908
HP:0000153	Abnormality of the mouth	10892	MALT1	OMIM:615468
HP:0000153	Abnormality of the mouth	84818	IL17RC	ORPHA:1334
HP:0000153	Abnormality of the mouth	64581	CLEC7A	ORPHA:1334
HP:0000153	Abnormality of the mouth	23765	IL17RA	ORPHA:1334
HP:0000153	Abnormality of the mouth	10758	TRAF3IP2	ORPHA:1334
HP:0000153	Abnormality of the mouth	10758	TRAF3IP2	OMIM:615527
HP:0000153	Abnormality of the mouth	112744	IL17F	ORPHA:1334
HP:0000153	Abnormality of the mouth	64065	PERP	OMIM:619208
HP:0000153	Abnormality of the mouth	113235	SLC46A1	ORPHA:90045
HP:0000153	Abnormality of the mouth	9509	ADAMTS2	OMIM:225410
HP:0000153	Abnormality of the mouth	1830	DSG3	OMIM:619226
HP:0000153	Abnormality of the mouth	100506658	OCLN	OMIM:251290
HP:0000153	Abnormality of the mouth	1500	CTNND1	OMIM:617681
HP:0000153	Abnormality of the mouth	4524	MTHFR	ORPHA:563609
HP:0000153	Abnormality of the mouth	57216	VANGL2	ORPHA:563609
HP:0000155	Oral ulcer	134218	DNAJC21	OMIM:617052
HP:0000155	Oral ulcer	134218	DNAJC21	ORPHA:811
HP:0000155	Oral ulcer	5970	RELA	OMIM:618287
HP:0000155	Oral ulcer	7128	TNFAIP3	OMIM:616744
HP:0000155	Oral ulcer	4598	MVK	OMIM:260920
HP:0000155	Oral ulcer	92579	G6PC3	OMIM:612541
HP:0000155	Oral ulcer	847	CAT	ORPHA:926
HP:0000155	Oral ulcer	847	CAT	OMIM:614097
HP:0000155	Oral ulcer	6775	STAT4	ORPHA:93552
HP:0000155	Oral ulcer	6775	STAT4	ORPHA:117
HP:0000155	Oral ulcer	6696	SPP1	ORPHA:93552
HP:0000155	Oral ulcer	3654	IRAK1	ORPHA:93552
HP:0000155	Oral ulcer	3575	IL7R	OMIM:608971
HP:0000155	Oral ulcer	3575	IL7R	ORPHA:169154
HP:0000155	Oral ulcer	959	CD40LG	OMIM:308230
HP:0000155	Oral ulcer	2542	SLC37A4	OMIM:232220
HP:0000155	Oral ulcer	2542	SLC37A4	ORPHA:79259
HP:0000155	Oral ulcer	64421	DCLRE1C	OMIM:602450
HP:0000155	Oral ulcer	51284	TLR7	OMIM:301080
HP:0000155	Oral ulcer	10312	TCIRG1	ORPHA:486
HP:0000155	Oral ulcer	1991	ELANE	ORPHA:486
HP:0000155	Oral ulcer	1991	ELANE	OMIM:162800
HP:0000155	Oral ulcer	1991	ELANE	ORPHA:2686
HP:0000155	Oral ulcer	2672	GFI1	ORPHA:486
HP:0000155	Oral ulcer	6729	SRP54	ORPHA:486
HP:0000155	Oral ulcer	6729	SRP54	ORPHA:811
HP:0000155	Oral ulcer	81570	CLPB	ORPHA:486
HP:0000155	Oral ulcer	6850	SYK	OMIM:619381
HP:0000155	Oral ulcer	2000	ELF4	OMIM:301074
HP:0000155	Oral ulcer	8737	RIPK1	OMIM:618852
HP:0000155	Oral ulcer	939	CD27	OMIM:615122
HP:0000155	Oral ulcer	64127	NOD2	OMIM:617321
HP:0000155	Oral ulcer	79415	CYBC1	OMIM:618935
HP:0000155	Oral ulcer	51816	ADA2	OMIM:615688
HP:0000155	Oral ulcer	3587	IL10RA	OMIM:613148
HP:0000155	Oral ulcer	113235	SLC46A1	OMIM:229050
HP:0000155	Oral ulcer	79631	EFL1	ORPHA:811
HP:0000155	Oral ulcer	51119	SBDS	ORPHA:811
HP:0000155	Oral ulcer	149233	IL23R	ORPHA:117
HP:0000155	Oral ulcer	3586	IL10	ORPHA:117
HP:0000155	Oral ulcer	4210	MEFV	ORPHA:117
HP:0000155	Oral ulcer	1230	CCR1	ORPHA:117
HP:0000155	Oral ulcer	355	FAS	ORPHA:117
HP:0000155	Oral ulcer	3592	IL12A	ORPHA:117
HP:0000155	Oral ulcer	101928376	IL12A-AS1	ORPHA:117
HP:0000155	Oral ulcer	3106	HLA-B	ORPHA:117
HP:0000155	Oral ulcer	7099	TLR4	ORPHA:117
HP:0000155	Oral ulcer	3459	IFNGR1	ORPHA:117
HP:0000155	Oral ulcer	720	C4A	ORPHA:117
HP:0000155	Oral ulcer	337867	UBAC2	ORPHA:117
HP:0000155	Oral ulcer	51752	ERAP1	ORPHA:117
HP:0000155	Oral ulcer	8302	KLRC4	ORPHA:117
HP:0000157	Abnormality of the tongue	55630	SLC39A4	ORPHA:37
HP:0000157	Abnormality of the tongue	51360	MBTPS2	ORPHA:659
HP:0000157	Abnormality of the tongue	162514	TRPV3	ORPHA:659
HP:0000157	Abnormality of the tongue	64065	PERP	ORPHA:659
HP:0000157	Abnormality of the tongue	55670	PEX26	ORPHA:912
HP:0000157	Abnormality of the tongue	5824	PEX19	ORPHA:912
HP:0000157	Abnormality of the tongue	5828	PEX2	ORPHA:912
HP:0000157	Abnormality of the tongue	8504	PEX3	ORPHA:912
HP:0000157	Abnormality of the tongue	8799	PEX11B	ORPHA:912
HP:0000157	Abnormality of the tongue	5190	PEX6	ORPHA:912
HP:0000157	Abnormality of the tongue	5830	PEX5	ORPHA:912
HP:0000157	Abnormality of the tongue	5193	PEX12	ORPHA:912
HP:0000157	Abnormality of the tongue	5194	PEX13	ORPHA:912
HP:0000157	Abnormality of the tongue	5195	PEX14	ORPHA:912
HP:0000157	Abnormality of the tongue	5192	PEX10	ORPHA:912
HP:0000157	Abnormality of the tongue	4621	MYH3	ORPHA:2990
HP:0000157	Abnormality of the tongue	1146	CHRNG	ORPHA:2990
HP:0000157	Abnormality of the tongue	567	B2M	ORPHA:314652
HP:0000157	Abnormality of the tongue	11160	ERLIN2	ORPHA:280384
HP:0000157	Abnormality of the tongue	11160	ERLIN2	ORPHA:209951
HP:0000157	Abnormality of the tongue	8450	CUL4B	OMIM:300354
HP:0000157	Abnormality of the tongue	51422	PRKAG2	OMIM:261740
HP:0000157	Abnormality of the tongue	9158	FIBP	ORPHA:500095
HP:0000157	Abnormality of the tongue	9158	FIBP	OMIM:617107
HP:0000157	Abnormality of the tongue	411	ARSB	OMIM:253200
HP:0000157	Abnormality of the tongue	4125	MAN2B1	ORPHA:309282
HP:0000157	Abnormality of the tongue	4125	MAN2B1	ORPHA:309288
HP:0000157	Abnormality of the tongue	4125	MAN2B1	OMIM:248500
HP:0000157	Abnormality of the tongue	7849	PAX8	OMIM:218700
HP:0000157	Abnormality of the tongue	7849	PAX8	ORPHA:95720
HP:0000157	Abnormality of the tongue	7849	PAX8	ORPHA:95713
HP:0000157	Abnormality of the tongue	7849	PAX8	ORPHA:95712
HP:0000157	Abnormality of the tongue	91754	NEK9	OMIM:617022
HP:0000157	Abnormality of the tongue	729920	CRPPA	OMIM:616052
HP:0000157	Abnormality of the tongue	729920	CRPPA	ORPHA:352479
HP:0000157	Abnormality of the tongue	388015	RTL1	ORPHA:254528
HP:0000157	Abnormality of the tongue	388015	RTL1	ORPHA:96334
HP:0000157	Abnormality of the tongue	8788	DLK1	ORPHA:254528
HP:0000157	Abnormality of the tongue	8788	DLK1	ORPHA:96334
HP:0000157	Abnormality of the tongue	55384	MEG3	ORPHA:254528
HP:0000157	Abnormality of the tongue	55384	MEG3	ORPHA:96334
HP:0000157	Abnormality of the tongue	3074	HEXB	OMIM:268800
HP:0000157	Abnormality of the tongue	65082	VPS33A	OMIM:617303
HP:0000157	Abnormality of the tongue	65082	VPS33A	ORPHA:505248
HP:0000157	Abnormality of the tongue	526	ATP6V1B2	OMIM:616455
HP:0000157	Abnormality of the tongue	526	ATP6V1B2	ORPHA:3473
HP:0000157	Abnormality of the tongue	10758	TRAF3IP2	OMIM:615527
HP:0000157	Abnormality of the tongue	10084	PQBP1	ORPHA:93947
HP:0000157	Abnormality of the tongue	79158	GNPTAB	OMIM:252500
HP:0000157	Abnormality of the tongue	271	AMPD2	OMIM:615809
HP:0000157	Abnormality of the tongue	57231	SNX14	ORPHA:397709
HP:0000157	Abnormality of the tongue	57231	SNX14	OMIM:616354
HP:0000157	Abnormality of the tongue	3767	KCNJ11	ORPHA:99886
HP:0000157	Abnormality of the tongue	346171	ZFP57	ORPHA:99886
HP:0000157	Abnormality of the tongue	57061	HYMAI	ORPHA:99886
HP:0000157	Abnormality of the tongue	57061	HYMAI	ORPHA:96191
HP:0000157	Abnormality of the tongue	6833	ABCC8	ORPHA:99886
HP:0000157	Abnormality of the tongue	5325	PLAGL1	ORPHA:99886
HP:0000157	Abnormality of the tongue	5325	PLAGL1	ORPHA:96191
HP:0000157	Abnormality of the tongue	7253	TSHR	ORPHA:90673
HP:0000157	Abnormality of the tongue	7253	TSHR	ORPHA:95720
HP:0000157	Abnormality of the tongue	7253	TSHR	ORPHA:95713
HP:0000157	Abnormality of the tongue	79147	FKRP	OMIM:607155
HP:0000157	Abnormality of the tongue	79147	FKRP	OMIM:606612
HP:0000157	Abnormality of the tongue	79147	FKRP	ORPHA:370959
HP:0000157	Abnormality of the tongue	5172	SLC26A4	ORPHA:95720
HP:0000157	Abnormality of the tongue	5172	SLC26A4	ORPHA:95713
HP:0000157	Abnormality of the tongue	7252	TSHB	ORPHA:90674
HP:0000157	Abnormality of the tongue	7252	TSHB	OMIM:275100
HP:0000157	Abnormality of the tongue	55777	MBD5	OMIM:156200
HP:0000157	Abnormality of the tongue	10940	POP1	OMIM:617396
HP:0000157	Abnormality of the tongue	405753	DUOXA2	ORPHA:95716
HP:0000157	Abnormality of the tongue	6528	SLC5A5	ORPHA:95716
HP:0000157	Abnormality of the tongue	6528	SLC5A5	OMIM:274400
HP:0000157	Abnormality of the tongue	7038	TG	ORPHA:95716
HP:0000157	Abnormality of the tongue	7173	TPO	ORPHA:95716
HP:0000157	Abnormality of the tongue	389434	IYD	ORPHA:95716
HP:0000157	Abnormality of the tongue	50506	DUOX2	ORPHA:95716
HP:0000157	Abnormality of the tongue	50506	DUOX2	ORPHA:226316
HP:0000157	Abnormality of the tongue	7080	NKX2-1	ORPHA:95713
HP:0000157	Abnormality of the tongue	1482	NKX2-5	ORPHA:95713
HP:0000157	Abnormality of the tongue	1482	NKX2-5	ORPHA:95712
HP:0000157	Abnormality of the tongue	2304	FOXE1	ORPHA:95713
HP:0000157	Abnormality of the tongue	3423	IDS	ORPHA:217085
HP:0000157	Abnormality of the tongue	3423	IDS	ORPHA:217093
HP:0000157	Abnormality of the tongue	3423	IDS	OMIM:309900
HP:0000157	Abnormality of the tongue	3572	IL6ST	OMIM:618523
HP:0000157	Abnormality of the tongue	93627	TBCK	OMIM:616900
HP:0000157	Abnormality of the tongue	93627	TBCK	ORPHA:488632
HP:0000157	Abnormality of the tongue	8289	ARID1A	OMIM:614607
HP:0000157	Abnormality of the tongue	23389	MED13L	ORPHA:369891
HP:0000157	Abnormality of the tongue	23389	MED13L	OMIM:616789
HP:0000157	Abnormality of the tongue	83550	GPR101	ORPHA:963
HP:0000157	Abnormality of the tongue	9049	AIP	ORPHA:963
HP:0000157	Abnormality of the tongue	6597	SMARCA4	OMIM:614609
HP:0000157	Abnormality of the tongue	60	ACTB	ORPHA:79107
HP:0000157	Abnormality of the tongue	3265	HRAS	ORPHA:3071
HP:0000157	Abnormality of the tongue	3265	HRAS	OMIM:218040
HP:0000157	Abnormality of the tongue	10483	SEC23B	ORPHA:201
HP:0000157	Abnormality of the tongue	5728	PTEN	ORPHA:201
HP:0000157	Abnormality of the tongue	5728	PTEN	ORPHA:65285
HP:0000157	Abnormality of the tongue	6390	SDHB	ORPHA:201
HP:0000157	Abnormality of the tongue	6392	SDHD	ORPHA:201
HP:0000157	Abnormality of the tongue	6391	SDHC	ORPHA:201
HP:0000157	Abnormality of the tongue	205717	USF3	ORPHA:201
HP:0000157	Abnormality of the tongue	100144748	KLLN	ORPHA:201
HP:0000157	Abnormality of the tongue	112812	FDX2	OMIM:251900
HP:0000157	Abnormality of the tongue	4556	MT-TE	ORPHA:254864
HP:0000157	Abnormality of the tongue	55687	TRMU	ORPHA:254864
HP:0000157	Abnormality of the tongue	7067	THRA	OMIM:614450
HP:0000157	Abnormality of the tongue	6023	RMRP	OMIM:607095
HP:0000157	Abnormality of the tongue	175	AGA	OMIM:208400
HP:0000157	Abnormality of the tongue	175	AGA	ORPHA:93
HP:0000157	Abnormality of the tongue	3756	KCNH1	ORPHA:3473
HP:0000157	Abnormality of the tongue	3782	KCNN3	ORPHA:3473
HP:0000157	Abnormality of the tongue	3425	IDUA	OMIM:607014
HP:0000157	Abnormality of the tongue	3425	IDUA	ORPHA:93473
HP:0000157	Abnormality of the tongue	6445	SGCG	ORPHA:353
HP:0000157	Abnormality of the tongue	9653	HS2ST1	OMIM:619194
HP:0000157	Abnormality of the tongue	2290	FOXG1	ORPHA:261144
HP:0000157	Abnormality of the tongue	57003	CCDC47	OMIM:618268
HP:0000157	Abnormality of the tongue	94005	PIGS	OMIM:618143
HP:0000157	Abnormality of the tongue	5626	PROP1	ORPHA:226307
HP:0000157	Abnormality of the tongue	89884	LHX4	ORPHA:226307
HP:0000157	Abnormality of the tongue	8022	LHX3	ORPHA:226307
HP:0000157	Abnormality of the tongue	5449	POU1F1	ORPHA:226307
HP:0000157	Abnormality of the tongue	5449	POU1F1	OMIM:613038
HP:0000157	Abnormality of the tongue	8820	HESX1	ORPHA:226307
HP:0000157	Abnormality of the tongue	2517	FUCA1	OMIM:230000
HP:0000157	Abnormality of the tongue	2548	GAA	OMIM:232300
HP:0000157	Abnormality of the tongue	2548	GAA	ORPHA:308552
HP:0000157	Abnormality of the tongue	51692	CPSF3	OMIM:619876
HP:0000157	Abnormality of the tongue	6804	STX1A	ORPHA:904
HP:0000157	Abnormality of the tongue	7461	CLIP2	ORPHA:904
HP:0000157	Abnormality of the tongue	84277	DNAJC30	ORPHA:904
HP:0000157	Abnormality of the tongue	8468	FKBP6	ORPHA:904
HP:0000157	Abnormality of the tongue	5982	RFC2	ORPHA:904
HP:0000157	Abnormality of the tongue	2969	GTF2I	ORPHA:904
HP:0000157	Abnormality of the tongue	3984	LIMK1	ORPHA:904
HP:0000157	Abnormality of the tongue	9569	GTF2IRD1	ORPHA:904
HP:0000157	Abnormality of the tongue	155382	VPS37D	ORPHA:904
HP:0000157	Abnormality of the tongue	155368	METTL27	ORPHA:904
HP:0000157	Abnormality of the tongue	114049	BUD23	ORPHA:904
HP:0000157	Abnormality of the tongue	7458	EIF4H	ORPHA:904
HP:0000157	Abnormality of the tongue	84163	GTF2IRD2	ORPHA:904
HP:0000157	Abnormality of the tongue	9275	BCL7B	ORPHA:904
HP:0000157	Abnormality of the tongue	26608	TBL2	ORPHA:904
HP:0000157	Abnormality of the tongue	653361	NCF1	ORPHA:904
HP:0000157	Abnormality of the tongue	135886	TMEM270	ORPHA:904
HP:0000157	Abnormality of the tongue	51085	MLXIPL	ORPHA:904
HP:0000157	Abnormality of the tongue	9031	BAZ1B	ORPHA:904
HP:0000157	Abnormality of the tongue	2006	ELN	ORPHA:904
HP:0000157	Abnormality of the tongue	79753	SNIP1	OMIM:614501
HP:0000157	Abnormality of the tongue	29925	GMPPB	ORPHA:370959
HP:0000157	Abnormality of the tongue	29954	POMT2	ORPHA:370959
HP:0000157	Abnormality of the tongue	29954	POMT2	OMIM:613150
HP:0000157	Abnormality of the tongue	29954	POMT2	OMIM:613156
HP:0000157	Abnormality of the tongue	84197	POMK	ORPHA:370959
HP:0000157	Abnormality of the tongue	55624	POMGNT1	ORPHA:370959
HP:0000157	Abnormality of the tongue	10585	POMT1	ORPHA:370959
HP:0000157	Abnormality of the tongue	10585	POMT1	OMIM:613155
HP:0000157	Abnormality of the tongue	2799	GNS	OMIM:252940
HP:0000157	Abnormality of the tongue	9215	LARGE1	OMIM:608840
HP:0000157	Abnormality of the tongue	2239	GPC4	ORPHA:373
HP:0000157	Abnormality of the tongue	2239	GPC4	OMIM:312870
HP:0000157	Abnormality of the tongue	2719	GPC3	ORPHA:373
HP:0000157	Abnormality of the tongue	2719	GPC3	OMIM:312870
HP:0000157	Abnormality of the tongue	4123	MAN2C1	OMIM:619775
HP:0000157	Abnormality of the tongue	54941	RNF125	OMIM:616260
HP:0000157	Abnormality of the tongue	284098	PIGW	OMIM:616025
HP:0000157	Abnormality of the tongue	10020	GNE	OMIM:269921
HP:0000157	Abnormality of the tongue	1028	CDKN1C	OMIM:130650
HP:0000157	Abnormality of the tongue	10984	KCNQ1OT1	OMIM:130650
HP:0000157	Abnormality of the tongue	3481	IGF2	OMIM:130650
HP:0000157	Abnormality of the tongue	3784	KCNQ1	OMIM:130650
HP:0000157	Abnormality of the tongue	5286	PIK3C2A	OMIM:618440
HP:0000157	Abnormality of the tongue	2990	GUSB	OMIM:253220
HP:0000157	Abnormality of the tongue	3643	INSR	ORPHA:769
HP:0000157	Abnormality of the tongue	55679	LIMS2	OMIM:616827
HP:0000157	Abnormality of the tongue	29929	ALG6	ORPHA:79320
HP:0000157	Abnormality of the tongue	10195	ALG3	ORPHA:79321
HP:0000157	Abnormality of the tongue	5468	PPARG	ORPHA:528
HP:0000157	Abnormality of the tongue	10555	AGPAT2	ORPHA:528
HP:0000157	Abnormality of the tongue	284119	CAVIN1	ORPHA:528
HP:0000157	Abnormality of the tongue	26580	BSCL2	ORPHA:528
HP:0000157	Abnormality of the tongue	2353	FOS	ORPHA:528
HP:0000157	Abnormality of the tongue	857	CAV1	ORPHA:528
HP:0000157	Abnormality of the tongue	3778	KCNMA1	OMIM:618729
HP:0000157	Abnormality of the tongue	79053	ALG8	ORPHA:79325
HP:0000157	Abnormality of the tongue	9742	IFT140	OMIM:266920
HP:0000157	Abnormality of the tongue	5696	PSMB8	OMIM:256040
HP:0000157	Abnormality of the tongue	695	BTK	ORPHA:47
HP:0000157	Abnormality of the tongue	6628	SNRPB	OMIM:117650
HP:0000157	Abnormality of the tongue	6628	SNRPB	ORPHA:1393
HP:0000157	Abnormality of the tongue	340419	RSPO2	OMIM:618021
HP:0000157	Abnormality of the tongue	23483	TGDS	OMIM:616145
HP:0000157	Abnormality of the tongue	23483	TGDS	ORPHA:1388
HP:0000157	Abnormality of the tongue	1909	EDNRA	OMIM:616367
HP:0000157	Abnormality of the tongue	5332	PLCB4	OMIM:614669
HP:0000157	Abnormality of the tongue	5332	PLCB4	ORPHA:137888
HP:0000157	Abnormality of the tongue	347734	SLC35B2	OMIM:620269
HP:0000157	Abnormality of the tongue	1280	COL2A1	ORPHA:94068
HP:0000157	Abnormality of the tongue	1280	COL2A1	ORPHA:166100
HP:0000157	Abnormality of the tongue	1280	COL2A1	ORPHA:93346
HP:0000157	Abnormality of the tongue	1302	COL11A2	ORPHA:1427
HP:0000157	Abnormality of the tongue	1302	COL11A2	ORPHA:166100
HP:0000157	Abnormality of the tongue	27125	AFF4	ORPHA:444077
HP:0000157	Abnormality of the tongue	84172	POLR1B	ORPHA:861
HP:0000157	Abnormality of the tongue	9533	POLR1C	ORPHA:861
HP:0000157	Abnormality of the tongue	51082	POLR1D	ORPHA:861
HP:0000157	Abnormality of the tongue	6949	TCOF1	ORPHA:861
HP:0000157	Abnormality of the tongue	9896	FIG4	ORPHA:3472
HP:0000157	Abnormality of the tongue	55697	VAC14	ORPHA:3472
HP:0000157	Abnormality of the tongue	23114	NFASC	OMIM:618356
HP:0000157	Abnormality of the tongue	860	RUNX2	ORPHA:1452
HP:0000157	Abnormality of the tongue	6662	SOX9	ORPHA:718
HP:0000157	Abnormality of the tongue	9409	PEX16	OMIM:614876
HP:0000157	Abnormality of the tongue	1906	EDN1	ORPHA:137888
HP:0000157	Abnormality of the tongue	1906	EDN1	OMIM:615706
HP:0000157	Abnormality of the tongue	2773	GNAI3	ORPHA:137888
HP:0000157	Abnormality of the tongue	2773	GNAI3	OMIM:602483
HP:0000157	Abnormality of the tongue	389827	MYMK	OMIM:254940
HP:0000157	Abnormality of the tongue	389827	MYMK	ORPHA:1358
HP:0000157	Abnormality of the tongue	9382	COG1	OMIM:611209
HP:0000157	Abnormality of the tongue	1301	COL11A1	ORPHA:440354
HP:0000157	Abnormality of the tongue	2316	FLNA	ORPHA:90652
HP:0000157	Abnormality of the tongue	8241	RBM10	ORPHA:2886
HP:0000157	Abnormality of the tongue	8241	RBM10	OMIM:311900
HP:0000157	Abnormality of the tongue	101929726	MYMX	ORPHA:1358
HP:0000157	Abnormality of the tongue	1893	ECM1	ORPHA:530
HP:0000157	Abnormality of the tongue	2737	GLI3	ORPHA:672
HP:0000157	Abnormality of the tongue	2737	GLI3	OMIM:146510
HP:0000157	Abnormality of the tongue	9791	PTDSS1	OMIM:151050
HP:0000157	Abnormality of the tongue	5396	PRRX1	ORPHA:990
HP:0000157	Abnormality of the tongue	5396	PRRX1	OMIM:202650
HP:0000157	Abnormality of the tongue	5015	OTX2	ORPHA:990
HP:0000157	Abnormality of the tongue	84823	LMNB2	OMIM:616540
HP:0000157	Abnormality of the tongue	5932	RBBP8	OMIM:606744
HP:0000157	Abnormality of the tongue	652	BMP4	OMIM:607932
HP:0000157	Abnormality of the tongue	6913	TBX15	OMIM:260660
HP:0000157	Abnormality of the tongue	4591	TRIM37	OMIM:253250
HP:0000157	Abnormality of the tongue	4208	MEF2C	OMIM:613443
HP:0000157	Abnormality of the tongue	79005	SCNM1	OMIM:620107
HP:0000157	Abnormality of the tongue	55149	MTPAP	ORPHA:254343
HP:0000157	Abnormality of the tongue	10382	TUBB4A	ORPHA:98805
HP:0000157	Abnormality of the tongue	23400	ATP13A2	ORPHA:306674
HP:0000157	Abnormality of the tongue	57679	ALS2	OMIM:205100
HP:0000157	Abnormality of the tongue	57679	ALS2	OMIM:606353
HP:0000157	Abnormality of the tongue	10755	GIPC1	ORPHA:98897
HP:0000157	Abnormality of the tongue	100996717	NOTCH2NLC	ORPHA:98897
HP:0000157	Abnormality of the tongue	5573	PRKAR1A	ORPHA:1359
HP:0000157	Abnormality of the tongue	50940	PDE11A	ORPHA:1359
HP:0000157	Abnormality of the tongue	26191	PTPN22	ORPHA:397
HP:0000157	Abnormality of the tongue	3106	HLA-B	ORPHA:397
HP:0000157	Abnormality of the tongue	3123	HLA-DRB1	ORPHA:397
HP:0000157	Abnormality of the tongue	8974	P4HA2	ORPHA:397
HP:0000157	Abnormality of the tongue	8029	CUBN	ORPHA:35858
HP:0000157	Abnormality of the tongue	81693	AMN	ORPHA:35858
HP:0000157	Abnormality of the tongue	340024	SLC6A19	ORPHA:2116
HP:0000157	Abnormality of the tongue	340024	SLC6A19	OMIM:234500
HP:0000157	Abnormality of the tongue	57393	CLTRN	ORPHA:2116
HP:0000157	Abnormality of the tongue	55788	LMBRD1	OMIM:277380
HP:0000157	Abnormality of the tongue	55788	LMBRD1	ORPHA:79284
HP:0000157	Abnormality of the tongue	25974	MMACHC	ORPHA:79282
HP:0000157	Abnormality of the tongue	113235	SLC46A1	ORPHA:90045
HP:0000157	Abnormality of the tongue	8242	KDM5C	OMIM:300534
HP:0000157	Abnormality of the tongue	22930	RAB3GAP1	ORPHA:1387
HP:0000157	Abnormality of the tongue	25782	RAB3GAP2	ORPHA:1387
HP:0000157	Abnormality of the tongue	81857	MED25	ORPHA:464738
HP:0000157	Abnormality of the tongue	81857	MED25	OMIM:616449
HP:0000157	Abnormality of the tongue	6720	SREBF1	OMIM:158310
HP:0000157	Abnormality of the tongue	473	RERE	OMIM:616975
HP:0000157	Abnormality of the tongue	3853	KRT6A	OMIM:615726
HP:0000157	Abnormality of the tongue	8518	ELP1	OMIM:223900
HP:0000157	Abnormality of the tongue	54463	RETREG1	OMIM:201300
HP:0000157	Abnormality of the tongue	65125	WNK1	OMIM:201300
HP:0000157	Abnormality of the tongue	6335	SCN9A	OMIM:201300
HP:0000157	Abnormality of the tongue	547	KIF1A	OMIM:201300
HP:0000157	Abnormality of the tongue	94	ACVRL1	OMIM:600376
HP:0000157	Abnormality of the tongue	2022	ENG	OMIM:187300
HP:0000157	Abnormality of the tongue	9131	AIFM1	ORPHA:238329
HP:0000157	Abnormality of the tongue	9131	AIFM1	OMIM:300816
HP:0000157	Abnormality of the tongue	10558	SPTLC1	OMIM:162400
HP:0000157	Abnormality of the tongue	427	ASAH1	OMIM:159950
HP:0000157	Abnormality of the tongue	6904	TBCD	OMIM:617193
HP:0000157	Abnormality of the tongue	11340	EXOSC8	OMIM:616081
HP:0000157	Abnormality of the tongue	11340	EXOSC8	ORPHA:2254
HP:0000157	Abnormality of the tongue	23250	ATP11A	OMIM:619851
HP:0000157	Abnormality of the tongue	5393	EXOSC9	OMIM:618065
HP:0000157	Abnormality of the tongue	5393	EXOSC9	ORPHA:2254
HP:0000157	Abnormality of the tongue	4724	NDUFS4	OMIM:252010
HP:0000157	Abnormality of the tongue	7317	UBA1	ORPHA:1145
HP:0000157	Abnormality of the tongue	7317	UBA1	OMIM:301830
HP:0000157	Abnormality of the tongue	64856	VWA1	OMIM:619216
HP:0000157	Abnormality of the tongue	203190	LGI3	OMIM:620007
HP:0000157	Abnormality of the tongue	55005	RMND1	OMIM:614922
HP:0000157	Abnormality of the tongue	7415	VCP	ORPHA:329475
HP:0000157	Abnormality of the tongue	23287	AGTPBP1	ORPHA:2254
HP:0000157	Abnormality of the tongue	23287	AGTPBP1	OMIM:618276
HP:0000157	Abnormality of the tongue	7443	VRK1	ORPHA:2254
HP:0000157	Abnormality of the tongue	7443	VRK1	OMIM:607596
HP:0000157	Abnormality of the tongue	91137	SLC25A46	ORPHA:2254
HP:0000157	Abnormality of the tongue	6606	SMN1	OMIM:271150
HP:0000157	Abnormality of the tongue	6606	SMN1	OMIM:253300
HP:0000157	Abnormality of the tongue	6606	SMN1	OMIM:253400
HP:0000157	Abnormality of the tongue	6606	SMN1	OMIM:253550
HP:0000157	Abnormality of the tongue	8087	FXR1	OMIM:618822
HP:0000157	Abnormality of the tongue	8087	FXR1	OMIM:618823
HP:0000157	Abnormality of the tongue	114034	TOE1	OMIM:614969
HP:0000157	Abnormality of the tongue	6607	SMN2	OMIM:253400
HP:0000157	Abnormality of the tongue	79581	SLC52A2	OMIM:614707
HP:0000157	Abnormality of the tongue	773	CACNA1A	ORPHA:569
HP:0000157	Abnormality of the tongue	112476	PRRT2	ORPHA:569
HP:0000157	Abnormality of the tongue	6323	SCN1A	ORPHA:569
HP:0000157	Abnormality of the tongue	477	ATP1A2	ORPHA:569
HP:0000157	Abnormality of the tongue	54936	ADPRS	OMIM:618170
HP:0000157	Abnormality of the tongue	7259	TSPYL1	OMIM:608800
HP:0000157	Abnormality of the tongue	127833	SYT2	OMIM:619461
HP:0000157	Abnormality of the tongue	51305	KCNK9	ORPHA:166108
HP:0000157	Abnormality of the tongue	84466	MEGF10	OMIM:614399
HP:0000157	Abnormality of the tongue	58497	PRUNE1	ORPHA:544469
HP:0000157	Abnormality of the tongue	400916	CHCHD10	ORPHA:276435
HP:0000157	Abnormality of the tongue	89874	SLC25A21	OMIM:618811
HP:0000157	Abnormality of the tongue	4359	MPZ	OMIM:145900
HP:0000157	Abnormality of the tongue	5376	PMP22	OMIM:145900
HP:0000157	Abnormality of the tongue	1959	EGR2	OMIM:145900
HP:0000157	Abnormality of the tongue	57716	PRX	OMIM:145900
HP:0000157	Abnormality of the tongue	6660	SOX5	ORPHA:313892
HP:0000157	Abnormality of the tongue	84314	TMEM107	ORPHA:564
HP:0000157	Abnormality of the tongue	26123	TCTN3	ORPHA:564
HP:0000157	Abnormality of the tongue	79867	TCTN2	ORPHA:564
HP:0000157	Abnormality of the tongue	80776	B9D2	ORPHA:564
HP:0000157	Abnormality of the tongue	79600	TCTN1	ORPHA:564
HP:0000157	Abnormality of the tongue	57096	RPGRIP1	ORPHA:564
HP:0000157	Abnormality of the tongue	79848	CSPP1	ORPHA:564
HP:0000157	Abnormality of the tongue	80184	CEP290	ORPHA:564
HP:0000157	Abnormality of the tongue	51259	TMEM216	ORPHA:564
HP:0000157	Abnormality of the tongue	57545	CC2D2A	ORPHA:564
HP:0000157	Abnormality of the tongue	79583	TMEM231	ORPHA:564
HP:0000157	Abnormality of the tongue	91147	TMEM67	ORPHA:564
HP:0000157	Abnormality of the tongue	79770	TXNDC15	ORPHA:564
HP:0000157	Abnormality of the tongue	27077	B9D1	ORPHA:564
HP:0000157	Abnormality of the tongue	23322	RPGRIP1L	ORPHA:564
HP:0000157	Abnormality of the tongue	54903	MKS1	ORPHA:564
HP:0000157	Abnormality of the tongue	65062	TMEM237	ORPHA:564
HP:0000157	Abnormality of the tongue	5980	REV3L	ORPHA:570
HP:0000157	Abnormality of the tongue	23129	PLXND1	ORPHA:570
HP:0000157	Abnormality of the tongue	157680	VPS13B	ORPHA:193
HP:0000157	Abnormality of the tongue	50945	TBX22	OMIM:303400
HP:0000157	Abnormality of the tongue	8367	H4C5	OMIM:619950
HP:0000157	Abnormality of the tongue	5457	POU4F1	OMIM:619352
HP:0000157	Abnormality of the tongue	3899	AFF3	OMIM:619297
HP:0000157	Abnormality of the tongue	6711	SPTBN1	OMIM:619475
HP:0000157	Abnormality of the tongue	57479	PRR12	OMIM:619539
HP:0000157	Abnormality of the tongue	23394	ADNP	OMIM:615873
HP:0000157	Abnormality of the tongue	9894	TELO2	ORPHA:488642
HP:0000157	Abnormality of the tongue	8085	KMT2D	OMIM:620186
HP:0000157	Abnormality of the tongue	4000	LMNA	ORPHA:740
HP:0000157	Abnormality of the tongue	10269	ZMPSTE24	ORPHA:740
HP:0000157	Abnormality of the tongue	4312	MMP1	ORPHA:79408
HP:0000157	Abnormality of the tongue	1294	COL7A1	ORPHA:79408
HP:0000157	Abnormality of the tongue	1294	COL7A1	ORPHA:89842
HP:0000157	Abnormality of the tongue	9578	CDC42BPB	OMIM:619841
HP:0000157	Abnormality of the tongue	613	BCR	ORPHA:261330
HP:0000157	Abnormality of the tongue	1399	CRKL	ORPHA:261330
HP:0000157	Abnormality of the tongue	5594	MAPK1	ORPHA:261330
HP:0000157	Abnormality of the tongue	26040	SETBP1	OMIM:616078
HP:0000157	Abnormality of the tongue	4281	MID1	ORPHA:2745
HP:0000157	Abnormality of the tongue	2542	SLC37A4	OMIM:619525
HP:0000157	Abnormality of the tongue	63901	FAM111A	OMIM:602361
HP:0000157	Abnormality of the tongue	4920	ROR2	OMIM:268310
HP:0000157	Abnormality of the tongue	4920	ROR2	ORPHA:1507
HP:0000157	Abnormality of the tongue	79659	DYNC2H1	OMIM:613091
HP:0000157	Abnormality of the tongue	79659	DYNC2H1	ORPHA:93271
HP:0000157	Abnormality of the tongue	341640	FREM2	ORPHA:2052
HP:0000157	Abnormality of the tongue	80144	FRAS1	ORPHA:2052
HP:0000157	Abnormality of the tongue	23426	GRIP1	ORPHA:2052
HP:0000157	Abnormality of the tongue	3190	HNRNPK	OMIM:616580
HP:0000157	Abnormality of the tongue	3190	HNRNPK	ORPHA:352665
HP:0000157	Abnormality of the tongue	3190	HNRNPK	ORPHA:453504
HP:0000157	Abnormality of the tongue	153241	CEP120	OMIM:616300
HP:0000157	Abnormality of the tongue	10526	IPO8	OMIM:619472
HP:0000157	Abnormality of the tongue	26005	C2CD3	ORPHA:434179
HP:0000157	Abnormality of the tongue	26005	C2CD3	OMIM:615948
HP:0000157	Abnormality of the tongue	54101	RIPK4	ORPHA:1401
HP:0000157	Abnormality of the tongue	1857	DVL3	ORPHA:3107
HP:0000157	Abnormality of the tongue	1857	DVL3	OMIM:616894
HP:0000157	Abnormality of the tongue	7474	WNT5A	ORPHA:3107
HP:0000157	Abnormality of the tongue	7474	WNT5A	OMIM:180700
HP:0000157	Abnormality of the tongue	1855	DVL1	ORPHA:3107
HP:0000157	Abnormality of the tongue	1855	DVL1	OMIM:180700
HP:0000157	Abnormality of the tongue	2535	FZD2	ORPHA:3107
HP:0000157	Abnormality of the tongue	64359	NXN	ORPHA:1507
HP:0000157	Abnormality of the tongue	4750	NEK1	ORPHA:2751
HP:0000157	Abnormality of the tongue	257	ALX3	ORPHA:391474
HP:0000157	Abnormality of the tongue	55112	DYNC2I1	ORPHA:93271
HP:0000157	Abnormality of the tongue	57560	IFT80	ORPHA:93271
HP:0000157	Abnormality of the tongue	57539	WDR35	ORPHA:93271
HP:0000157	Abnormality of the tongue	89891	DYNC2I2	ORPHA:93271
HP:0000157	Abnormality of the tongue	83479	DDX59	ORPHA:2919
HP:0000157	Abnormality of the tongue	83479	DDX59	OMIM:174300
HP:0000157	Abnormality of the tongue	55784	MCTP2	ORPHA:1596
HP:0000157	Abnormality of the tongue	8481	OFD1	OMIM:311200
HP:0000157	Abnormality of the tongue	1717	DHCR7	ORPHA:818
HP:0000157	Abnormality of the tongue	3977	LIFR	ORPHA:3206
HP:0000157	Abnormality of the tongue	3977	LIFR	OMIM:601559
HP:0000157	Abnormality of the tongue	3852	KRT5	ORPHA:79396
HP:0000157	Abnormality of the tongue	3861	KRT14	ORPHA:79396
HP:0000157	Abnormality of the tongue	80326	WNT10A	OMIM:257980
HP:0000157	Abnormality of the tongue	1789	DNMT3B	OMIM:242860
HP:0000157	Abnormality of the tongue	1789	DNMT3B	ORPHA:2268
HP:0000157	Abnormality of the tongue	7337	UBE3A	ORPHA:98794
HP:0000157	Abnormality of the tongue	7337	UBE3A	ORPHA:98795
HP:0000157	Abnormality of the tongue	7337	UBE3A	OMIM:105830
HP:0000157	Abnormality of the tongue	7337	UBE3A	ORPHA:411511
HP:0000157	Abnormality of the tongue	4948	OCA2	ORPHA:98794
HP:0000157	Abnormality of the tongue	9488	PIGB	OMIM:618580
HP:0000157	Abnormality of the tongue	9321	TRIP11	OMIM:200600
HP:0000157	Abnormality of the tongue	91949	COG7	OMIM:608779
HP:0000157	Abnormality of the tongue	4001	LMNB1	OMIM:619179
HP:0000157	Abnormality of the tongue	546	ATRX	OMIM:309580
HP:0000157	Abnormality of the tongue	546	ATRX	OMIM:301040
HP:0000157	Abnormality of the tongue	29957	SLC25A24	OMIM:612289
HP:0000157	Abnormality of the tongue	23219	FBXO28	OMIM:619777
HP:0000157	Abnormality of the tongue	6418	SET	OMIM:618106
HP:0000157	Abnormality of the tongue	9378	NRXN1	OMIM:614325
HP:0000157	Abnormality of the tongue	2720	GLB1	OMIM:230600
HP:0000157	Abnormality of the tongue	56623	INPP5E	OMIM:213300
HP:0000157	Abnormality of the tongue	79813	EHMT1	ORPHA:96147
HP:0000157	Abnormality of the tongue	79813	EHMT1	OMIM:610253
HP:0000157	Abnormality of the tongue	9289	ADGRG1	ORPHA:98889
HP:0000157	Abnormality of the tongue	5297	PI4KA	ORPHA:98889
HP:0000157	Abnormality of the tongue	27286	SRPX2	ORPHA:98889
HP:0000157	Abnormality of the tongue	6638	SNRPN	OMIM:105830
HP:0000157	Abnormality of the tongue	6872	TAF1	ORPHA:53351
HP:0000157	Abnormality of the tongue	4758	NEU1	ORPHA:93399
HP:0000157	Abnormality of the tongue	4758	NEU1	ORPHA:93400
HP:0000157	Abnormality of the tongue	2898	GRIK2	OMIM:619580
HP:0000157	Abnormality of the tongue	1457	CSNK2A1	OMIM:617062
HP:0000157	Abnormality of the tongue	4784	NFIX	ORPHA:561
HP:0000157	Abnormality of the tongue	374879	ZNF699	OMIM:619488
HP:0000157	Abnormality of the tongue	1193	CLIC2	ORPHA:324410
HP:0000157	Abnormality of the tongue	374654	KIF7	OMIM:200990
HP:0000157	Abnormality of the tongue	5745	PTH1R	ORPHA:50945
HP:0000157	Abnormality of the tongue	2623	GATA1	OMIM:190685
HP:0000157	Abnormality of the tongue	253959	RALGAPA1	OMIM:618797
HP:0000157	Abnormality of the tongue	28952	CCDC22	OMIM:300963
HP:0000157	Abnormality of the tongue	3070	HELLS	ORPHA:2268
HP:0000157	Abnormality of the tongue	83879	CDCA7	ORPHA:2268
HP:0000157	Abnormality of the tongue	9841	ZBTB24	ORPHA:2268
HP:0000157	Abnormality of the tongue	23230	VPS13A	ORPHA:2388
HP:0000157	Abnormality of the tongue	22907	DHX30	OMIM:617804
HP:0000157	Abnormality of the tongue	1460	CSNK2B	OMIM:618732
HP:0000157	Abnormality of the tongue	4247	MGAT2	OMIM:212066
HP:0000157	Abnormality of the tongue	3908	LAMA2	ORPHA:258
HP:0000157	Abnormality of the tongue	5189	PEX1	OMIM:214100
HP:0000157	Abnormality of the tongue	1759	DNM1	OMIM:620352
HP:0000157	Abnormality of the tongue	55343	SLC35C1	ORPHA:99843
HP:0000157	Abnormality of the tongue	79068	FTO	OMIM:612938
HP:0000157	Abnormality of the tongue	56975	FAM20C	OMIM:259775
HP:0000157	Abnormality of the tongue	65250	CPLANE1	OMIM:277170
HP:0000157	Abnormality of the tongue	65250	CPLANE1	ORPHA:2754
HP:0000157	Abnormality of the tongue	9786	KIAA0586	OMIM:616546
HP:0000157	Abnormality of the tongue	27152	INTU	OMIM:617925
HP:0000157	Abnormality of the tongue	51057	WDPCP	OMIM:217085
HP:0000157	Abnormality of the tongue	51057	WDPCP	ORPHA:1338
HP:0000157	Abnormality of the tongue	10210	TOPORS	ORPHA:2754
HP:0000157	Abnormality of the tongue	9851	KIAA0753	ORPHA:2754
HP:0000157	Abnormality of the tongue	5147	PDE6D	ORPHA:2754
HP:0000157	Abnormality of the tongue	317662	FAM149B1	ORPHA:2754
HP:0000157	Abnormality of the tongue	79628	SH3TC2	OMIM:601596
HP:0000157	Abnormality of the tongue	79628	SH3TC2	ORPHA:99949
HP:0000157	Abnormality of the tongue	2483	FRG1	OMIM:158900
HP:0000157	Abnormality of the tongue	80025	PANK2	ORPHA:216873
HP:0000157	Abnormality of the tongue	2934	GSN	ORPHA:85448
HP:0000157	Abnormality of the tongue	339855	KY	OMIM:617114
HP:0000157	Abnormality of the tongue	339855	KY	ORPHA:496689
HP:0000157	Abnormality of the tongue	9427	ECEL1	OMIM:615065
HP:0000157	Abnormality of the tongue	3508	IGHMBP2	OMIM:616155
HP:0000157	Abnormality of the tongue	10528	NOP56	OMIM:614153
HP:0000157	Abnormality of the tongue	10528	NOP56	ORPHA:276198
HP:0000157	Abnormality of the tongue	22880	MORC2	ORPHA:466768
HP:0000157	Abnormality of the tongue	10133	OPTN	OMIM:613435
HP:0000157	Abnormality of the tongue	51010	EXOSC3	OMIM:614678
HP:0000157	Abnormality of the tongue	81846	SBF2	ORPHA:99956
HP:0000157	Abnormality of the tongue	4747	NEFL	ORPHA:101085
HP:0000157	Abnormality of the tongue	113278	SLC52A3	OMIM:211530
HP:0000157	Abnormality of the tongue	285489	DOK7	OMIM:254300
HP:0000157	Abnormality of the tongue	26525	IL36RN	OMIM:614204
HP:0000157	Abnormality of the tongue	4194	MDM4	OMIM:618849
HP:0000157	Abnormality of the tongue	55135	WRAP53	OMIM:613988
HP:0000157	Abnormality of the tongue	5317	PKP1	ORPHA:158668
HP:0000157	Abnormality of the tongue	8831	SYNGAP1	ORPHA:544254
HP:0000157	Abnormality of the tongue	4914	NTRK1	ORPHA:642
HP:0000157	Abnormality of the tongue	7512	XPNPEP2	ORPHA:100057
HP:0000157	Abnormality of the tongue	710	SERPING1	ORPHA:100050
HP:0000157	Abnormality of the tongue	10804	GJB6	ORPHA:477
HP:0000157	Abnormality of the tongue	2706	GJB2	ORPHA:477
HP:0000157	Abnormality of the tongue	355	FAS	ORPHA:3261
HP:0000157	Abnormality of the tongue	356	FASLG	ORPHA:3261
HP:0000157	Abnormality of the tongue	5580	PRKCD	ORPHA:3261
HP:0000157	Abnormality of the tongue	843	CASP10	ORPHA:3261
HP:0000157	Abnormality of the tongue	10125	RASGRP1	ORPHA:3261
HP:0000157	Abnormality of the tongue	8314	BAP1	ORPHA:2495
HP:0000157	Abnormality of the tongue	4771	NF2	ORPHA:2495
HP:0000157	Abnormality of the tongue	6598	SMARCB1	ORPHA:2495
HP:0000157	Abnormality of the tongue	5155	PDGFB	ORPHA:2495
HP:0000157	Abnormality of the tongue	84231	TRAF7	ORPHA:2495
HP:0000157	Abnormality of the tongue	6608	SMO	ORPHA:2495
HP:0000157	Abnormality of the tongue	207	AKT1	ORPHA:2495
HP:0000157	Abnormality of the tongue	5290	PIK3CA	ORPHA:2495
HP:0000157	Abnormality of the tongue	7015	TERT	ORPHA:2495
HP:0000157	Abnormality of the tongue	51684	SUFU	ORPHA:2495
HP:0000157	Abnormality of the tongue	6605	SMARCE1	ORPHA:2495
HP:0000157	Abnormality of the tongue	23522	KAT6B	ORPHA:3047
HP:0000158	Macroglossia	11160	ERLIN2	ORPHA:280384
HP:0000158	Macroglossia	11160	ERLIN2	ORPHA:209951
HP:0000158	Macroglossia	8450	CUL4B	OMIM:300354
HP:0000158	Macroglossia	51422	PRKAG2	OMIM:261740
HP:0000158	Macroglossia	9158	FIBP	ORPHA:500095
HP:0000158	Macroglossia	9158	FIBP	OMIM:617107
HP:0000158	Macroglossia	56623	INPP5E	OMIM:213300
HP:0000158	Macroglossia	79813	EHMT1	ORPHA:96147
HP:0000158	Macroglossia	79813	EHMT1	OMIM:610253
HP:0000158	Macroglossia	546	ATRX	OMIM:301040
HP:0000158	Macroglossia	546	ATRX	ORPHA:847
HP:0000158	Macroglossia	546	ATRX	OMIM:309580
HP:0000158	Macroglossia	411	ARSB	OMIM:253200
HP:0000158	Macroglossia	3190	HNRNPK	ORPHA:453504
HP:0000158	Macroglossia	3190	HNRNPK	ORPHA:352665
HP:0000158	Macroglossia	4125	MAN2B1	ORPHA:309282
HP:0000158	Macroglossia	4125	MAN2B1	ORPHA:309288
HP:0000158	Macroglossia	4125	MAN2B1	OMIM:248500
HP:0000158	Macroglossia	27125	AFF4	ORPHA:444077
HP:0000158	Macroglossia	7849	PAX8	OMIM:218700
HP:0000158	Macroglossia	7849	PAX8	ORPHA:95720
HP:0000158	Macroglossia	7849	PAX8	ORPHA:95713
HP:0000158	Macroglossia	7849	PAX8	ORPHA:95712
HP:0000158	Macroglossia	91754	NEK9	OMIM:617022
HP:0000158	Macroglossia	729920	CRPPA	OMIM:616052
HP:0000158	Macroglossia	729920	CRPPA	ORPHA:352479
HP:0000158	Macroglossia	2623	GATA1	OMIM:190685
HP:0000158	Macroglossia	388015	RTL1	ORPHA:254528
HP:0000158	Macroglossia	388015	RTL1	ORPHA:96334
HP:0000158	Macroglossia	8788	DLK1	ORPHA:254528
HP:0000158	Macroglossia	8788	DLK1	ORPHA:96334
HP:0000158	Macroglossia	55384	MEG3	ORPHA:254528
HP:0000158	Macroglossia	55384	MEG3	ORPHA:96334
HP:0000158	Macroglossia	3074	HEXB	OMIM:268800
HP:0000158	Macroglossia	65082	VPS33A	OMIM:617303
HP:0000158	Macroglossia	65082	VPS33A	ORPHA:505248
HP:0000158	Macroglossia	526	ATP6V1B2	OMIM:616455
HP:0000158	Macroglossia	526	ATP6V1B2	ORPHA:3473
HP:0000158	Macroglossia	10758	TRAF3IP2	OMIM:615527
HP:0000158	Macroglossia	10084	PQBP1	ORPHA:93947
HP:0000158	Macroglossia	2720	GLB1	ORPHA:79255
HP:0000158	Macroglossia	79158	GNPTAB	OMIM:252500
HP:0000158	Macroglossia	271	AMPD2	OMIM:615809
HP:0000158	Macroglossia	3908	LAMA2	ORPHA:258
HP:0000158	Macroglossia	57231	SNX14	ORPHA:397709
HP:0000158	Macroglossia	57231	SNX14	OMIM:616354
HP:0000158	Macroglossia	5189	PEX1	OMIM:214100
HP:0000158	Macroglossia	3767	KCNJ11	ORPHA:99886
HP:0000158	Macroglossia	346171	ZFP57	ORPHA:99886
HP:0000158	Macroglossia	57061	HYMAI	ORPHA:99886
HP:0000158	Macroglossia	57061	HYMAI	ORPHA:96191
HP:0000158	Macroglossia	6833	ABCC8	ORPHA:99886
HP:0000158	Macroglossia	5325	PLAGL1	ORPHA:99886
HP:0000158	Macroglossia	5325	PLAGL1	ORPHA:96191
HP:0000158	Macroglossia	7253	TSHR	ORPHA:90673
HP:0000158	Macroglossia	7253	TSHR	ORPHA:95720
HP:0000158	Macroglossia	7253	TSHR	ORPHA:95713
HP:0000158	Macroglossia	79147	FKRP	OMIM:607155
HP:0000158	Macroglossia	79147	FKRP	OMIM:606612
HP:0000158	Macroglossia	79147	FKRP	ORPHA:370959
HP:0000158	Macroglossia	5172	SLC26A4	ORPHA:95720
HP:0000158	Macroglossia	5172	SLC26A4	ORPHA:95713
HP:0000158	Macroglossia	7252	TSHB	ORPHA:90674
HP:0000158	Macroglossia	7252	TSHB	OMIM:275100
HP:0000158	Macroglossia	55777	MBD5	OMIM:156200
HP:0000158	Macroglossia	10940	POP1	OMIM:617396
HP:0000158	Macroglossia	405753	DUOXA2	ORPHA:95716
HP:0000158	Macroglossia	6528	SLC5A5	ORPHA:95716
HP:0000158	Macroglossia	6528	SLC5A5	OMIM:274400
HP:0000158	Macroglossia	7038	TG	ORPHA:95716
HP:0000158	Macroglossia	7173	TPO	ORPHA:95716
HP:0000158	Macroglossia	389434	IYD	ORPHA:95716
HP:0000158	Macroglossia	50506	DUOX2	ORPHA:95716
HP:0000158	Macroglossia	50506	DUOX2	ORPHA:226316
HP:0000158	Macroglossia	7080	NKX2-1	ORPHA:95713
HP:0000158	Macroglossia	1482	NKX2-5	ORPHA:95713
HP:0000158	Macroglossia	1482	NKX2-5	ORPHA:95712
HP:0000158	Macroglossia	2304	FOXE1	ORPHA:95713
HP:0000158	Macroglossia	3423	IDS	ORPHA:217085
HP:0000158	Macroglossia	3423	IDS	ORPHA:217093
HP:0000158	Macroglossia	3423	IDS	OMIM:309900
HP:0000158	Macroglossia	3572	IL6ST	OMIM:618523
HP:0000158	Macroglossia	93627	TBCK	OMIM:616900
HP:0000158	Macroglossia	93627	TBCK	ORPHA:488632
HP:0000158	Macroglossia	8289	ARID1A	OMIM:614607
HP:0000158	Macroglossia	23389	MED13L	ORPHA:369891
HP:0000158	Macroglossia	23389	MED13L	OMIM:616789
HP:0000158	Macroglossia	83550	GPR101	ORPHA:963
HP:0000158	Macroglossia	9049	AIP	ORPHA:963
HP:0000158	Macroglossia	6598	SMARCB1	OMIM:614608
HP:0000158	Macroglossia	6597	SMARCA4	OMIM:614609
HP:0000158	Macroglossia	60	ACTB	ORPHA:79107
HP:0000158	Macroglossia	3265	HRAS	ORPHA:3071
HP:0000158	Macroglossia	3265	HRAS	OMIM:218040
HP:0000158	Macroglossia	10483	SEC23B	ORPHA:201
HP:0000158	Macroglossia	5728	PTEN	ORPHA:201
HP:0000158	Macroglossia	5728	PTEN	ORPHA:65285
HP:0000158	Macroglossia	6390	SDHB	ORPHA:201
HP:0000158	Macroglossia	6392	SDHD	ORPHA:201
HP:0000158	Macroglossia	6391	SDHC	ORPHA:201
HP:0000158	Macroglossia	207	AKT1	ORPHA:201
HP:0000158	Macroglossia	205717	USF3	ORPHA:201
HP:0000158	Macroglossia	5290	PIK3CA	ORPHA:201
HP:0000158	Macroglossia	100144748	KLLN	ORPHA:201
HP:0000158	Macroglossia	112812	FDX2	OMIM:251900
HP:0000158	Macroglossia	4556	MT-TE	ORPHA:254864
HP:0000158	Macroglossia	55687	TRMU	ORPHA:254864
HP:0000158	Macroglossia	7067	THRA	OMIM:614450
HP:0000158	Macroglossia	3070	HELLS	ORPHA:2268
HP:0000158	Macroglossia	1789	DNMT3B	ORPHA:2268
HP:0000158	Macroglossia	1789	DNMT3B	OMIM:242860
HP:0000158	Macroglossia	83879	CDCA7	ORPHA:2268
HP:0000158	Macroglossia	9841	ZBTB24	ORPHA:2268
HP:0000158	Macroglossia	6023	RMRP	OMIM:607095
HP:0000158	Macroglossia	175	AGA	OMIM:208400
HP:0000158	Macroglossia	175	AGA	ORPHA:93
HP:0000158	Macroglossia	3756	KCNH1	ORPHA:3473
HP:0000158	Macroglossia	3782	KCNN3	ORPHA:3473
HP:0000158	Macroglossia	3425	IDUA	OMIM:607014
HP:0000158	Macroglossia	3425	IDUA	ORPHA:93473
HP:0000158	Macroglossia	26040	SETBP1	OMIM:269150
HP:0000158	Macroglossia	26040	SETBP1	ORPHA:798
HP:0000158	Macroglossia	6445	SGCG	ORPHA:353
HP:0000158	Macroglossia	9653	HS2ST1	OMIM:619194
HP:0000158	Macroglossia	2290	FOXG1	ORPHA:261144
HP:0000158	Macroglossia	57003	CCDC47	OMIM:618268
HP:0000158	Macroglossia	10526	IPO8	OMIM:619472
HP:0000158	Macroglossia	94005	PIGS	OMIM:618143
HP:0000158	Macroglossia	5626	PROP1	ORPHA:226307
HP:0000158	Macroglossia	89884	LHX4	ORPHA:226307
HP:0000158	Macroglossia	8022	LHX3	ORPHA:226307
HP:0000158	Macroglossia	5449	POU1F1	ORPHA:226307
HP:0000158	Macroglossia	5449	POU1F1	OMIM:613038
HP:0000158	Macroglossia	8820	HESX1	ORPHA:226307
HP:0000158	Macroglossia	2517	FUCA1	OMIM:230000
HP:0000158	Macroglossia	2548	GAA	OMIM:232300
HP:0000158	Macroglossia	2548	GAA	ORPHA:308552
HP:0000158	Macroglossia	51692	CPSF3	OMIM:619876
HP:0000158	Macroglossia	6804	STX1A	ORPHA:904
HP:0000158	Macroglossia	7461	CLIP2	ORPHA:904
HP:0000158	Macroglossia	84277	DNAJC30	ORPHA:904
HP:0000158	Macroglossia	8468	FKBP6	ORPHA:904
HP:0000158	Macroglossia	5982	RFC2	ORPHA:904
HP:0000158	Macroglossia	2969	GTF2I	ORPHA:904
HP:0000158	Macroglossia	3984	LIMK1	ORPHA:904
HP:0000158	Macroglossia	9569	GTF2IRD1	ORPHA:904
HP:0000158	Macroglossia	155382	VPS37D	ORPHA:904
HP:0000158	Macroglossia	155368	METTL27	ORPHA:904
HP:0000158	Macroglossia	114049	BUD23	ORPHA:904
HP:0000158	Macroglossia	7458	EIF4H	ORPHA:904
HP:0000158	Macroglossia	84163	GTF2IRD2	ORPHA:904
HP:0000158	Macroglossia	9275	BCL7B	ORPHA:904
HP:0000158	Macroglossia	26608	TBL2	ORPHA:904
HP:0000158	Macroglossia	653361	NCF1	ORPHA:904
HP:0000158	Macroglossia	135886	TMEM270	ORPHA:904
HP:0000158	Macroglossia	51085	MLXIPL	ORPHA:904
HP:0000158	Macroglossia	9031	BAZ1B	ORPHA:904
HP:0000158	Macroglossia	2006	ELN	ORPHA:904
HP:0000158	Macroglossia	79753	SNIP1	OMIM:614501
HP:0000158	Macroglossia	6638	SNRPN	OMIM:105830
HP:0000158	Macroglossia	7337	UBE3A	OMIM:105830
HP:0000158	Macroglossia	29925	GMPPB	ORPHA:370959
HP:0000158	Macroglossia	29954	POMT2	ORPHA:370959
HP:0000158	Macroglossia	29954	POMT2	OMIM:613150
HP:0000158	Macroglossia	29954	POMT2	OMIM:613156
HP:0000158	Macroglossia	84197	POMK	ORPHA:370959
HP:0000158	Macroglossia	55624	POMGNT1	ORPHA:370959
HP:0000158	Macroglossia	10585	POMT1	ORPHA:370959
HP:0000158	Macroglossia	10585	POMT1	OMIM:613155
HP:0000158	Macroglossia	2799	GNS	OMIM:252940
HP:0000158	Macroglossia	9215	LARGE1	OMIM:608840
HP:0000158	Macroglossia	4920	ROR2	OMIM:268310
HP:0000158	Macroglossia	2239	GPC4	ORPHA:373
HP:0000158	Macroglossia	2239	GPC4	OMIM:312870
HP:0000158	Macroglossia	2719	GPC3	ORPHA:373
HP:0000158	Macroglossia	2719	GPC3	OMIM:312870
HP:0000158	Macroglossia	4123	MAN2C1	OMIM:619775
HP:0000158	Macroglossia	54941	RNF125	OMIM:616260
HP:0000158	Macroglossia	284098	PIGW	OMIM:616025
HP:0000158	Macroglossia	10020	GNE	OMIM:269921
HP:0000158	Macroglossia	1028	CDKN1C	OMIM:130650
HP:0000158	Macroglossia	10984	KCNQ1OT1	OMIM:130650
HP:0000158	Macroglossia	3481	IGF2	OMIM:130650
HP:0000158	Macroglossia	3784	KCNQ1	OMIM:130650
HP:0000158	Macroglossia	5286	PIK3C2A	OMIM:618440
HP:0000158	Macroglossia	2990	GUSB	OMIM:253220
HP:0000158	Macroglossia	3643	INSR	ORPHA:769
HP:0000158	Macroglossia	29929	ALG6	ORPHA:79320
HP:0000158	Macroglossia	10195	ALG3	ORPHA:79321
HP:0000158	Macroglossia	5468	PPARG	ORPHA:528
HP:0000158	Macroglossia	10555	AGPAT2	ORPHA:528
HP:0000158	Macroglossia	284119	CAVIN1	ORPHA:528
HP:0000158	Macroglossia	26580	BSCL2	ORPHA:528
HP:0000158	Macroglossia	2353	FOS	ORPHA:528
HP:0000158	Macroglossia	857	CAV1	ORPHA:528
HP:0000158	Macroglossia	3778	KCNMA1	OMIM:618729
HP:0000158	Macroglossia	7474	WNT5A	OMIM:180700
HP:0000158	Macroglossia	1855	DVL1	OMIM:180700
HP:0000158	Macroglossia	79053	ALG8	ORPHA:79325
HP:0000158	Macroglossia	9742	IFT140	OMIM:266920
HP:0000158	Macroglossia	5696	PSMB8	OMIM:256040
HP:0000158	Macroglossia	55679	LIMS2	OMIM:616827
HP:0000159	Abnormal lip morphology	84818	IL17RC	ORPHA:1334
HP:0000159	Abnormal lip morphology	64581	CLEC7A	ORPHA:1334
HP:0000159	Abnormal lip morphology	23765	IL17RA	ORPHA:1334
HP:0000159	Abnormal lip morphology	10758	TRAF3IP2	ORPHA:1334
HP:0000159	Abnormal lip morphology	112744	IL17F	ORPHA:1334
HP:0000159	Abnormal lip morphology	10735	STAG2	OMIM:301043
HP:0000159	Abnormal lip morphology	10735	STAG2	ORPHA:220386
HP:0000159	Abnormal lip morphology	10735	STAG2	ORPHA:93925
HP:0000159	Abnormal lip morphology	23007	PLCH1	OMIM:619895
HP:0000159	Abnormal lip morphology	23007	PLCH1	ORPHA:93925
HP:0000159	Abnormal lip morphology	4750	NEK1	OMIM:263520
HP:0000159	Abnormal lip morphology	4750	NEK1	ORPHA:2751
HP:0000159	Abnormal lip morphology	81788	NUAK2	OMIM:619452
HP:0000159	Abnormal lip morphology	8243	SMC1A	ORPHA:220386
HP:0000159	Abnormal lip morphology	6491	STIL	ORPHA:220386
HP:0000159	Abnormal lip morphology	6491	STIL	ORPHA:93926
HP:0000159	Abnormal lip morphology	6491	STIL	ORPHA:93924
HP:0000159	Abnormal lip morphology	6491	STIL	ORPHA:93925
HP:0000159	Abnormal lip morphology	6608	SMO	OMIM:241800
HP:0000159	Abnormal lip morphology	57688	ZSWIM6	ORPHA:1827
HP:0000159	Abnormal lip morphology	8481	OFD1	ORPHA:2750
HP:0000159	Abnormal lip morphology	8481	OFD1	OMIM:311200
HP:0000159	Abnormal lip morphology	219844	HYLS1	OMIM:236680
HP:0000159	Abnormal lip morphology	26123	TCTN3	ORPHA:2753
HP:0000159	Abnormal lip morphology	2697	GJA1	ORPHA:2710
HP:0000159	Abnormal lip morphology	257	ALX3	OMIM:136760
HP:0000159	Abnormal lip morphology	51626	DYNC2LI1	OMIM:617088
HP:0000159	Abnormal lip morphology	54101	RIPK4	ORPHA:1234
HP:0000159	Abnormal lip morphology	22858	CILK1	OMIM:612651
HP:0000159	Abnormal lip morphology	27152	INTU	OMIM:617926
HP:0000159	Abnormal lip morphology	3090	HIC1	ORPHA:531
HP:0000159	Abnormal lip morphology	5048	PAFAH1B1	ORPHA:531
HP:0000159	Abnormal lip morphology	7531	YWHAE	ORPHA:531
HP:0000159	Abnormal lip morphology	547	KIF1A	ORPHA:2836
HP:0000159	Abnormal lip morphology	27316	RBMX	OMIM:300238
HP:0000159	Abnormal lip morphology	9759	HDAC4	OMIM:619797
HP:0000159	Abnormal lip morphology	6228	RPS23	OMIM:617412
HP:0000159	Abnormal lip morphology	57520	HECW2	OMIM:617268
HP:0000159	Abnormal lip morphology	4758	NEU1	ORPHA:812
HP:0000159	Abnormal lip morphology	6197	RPS6KA3	OMIM:303600
HP:0000159	Abnormal lip morphology	6197	RPS6KA3	ORPHA:192
HP:0000159	Abnormal lip morphology	6197	RPS6KA3	OMIM:300844
HP:0000159	Abnormal lip morphology	24140	FTSJ1	OMIM:309549
HP:0000159	Abnormal lip morphology	83550	GPR101	ORPHA:963
HP:0000159	Abnormal lip morphology	9049	AIP	ORPHA:963
HP:0000159	Abnormal lip morphology	2717	GLA	ORPHA:324
HP:0000159	Abnormal lip morphology	3782	KCNN3	OMIM:618658
HP:0000159	Abnormal lip morphology	760	CA2	ORPHA:2785
HP:0000159	Abnormal lip morphology	56006	SMG9	OMIM:616920
HP:0000159	Abnormal lip morphology	2517	FUCA1	OMIM:230000
HP:0000159	Abnormal lip morphology	23137	SMC5	OMIM:620185
HP:0000159	Abnormal lip morphology	26137	ZBTB20	OMIM:259050
HP:0000159	Abnormal lip morphology	58508	KMT2C	ORPHA:261652
HP:0000159	Abnormal lip morphology	23067	SETD1B	OMIM:619000
HP:0000159	Abnormal lip morphology	55691	FRMD4A	ORPHA:466688
HP:0000159	Abnormal lip morphology	1893	ECM1	ORPHA:530
HP:0000159	Abnormal lip morphology	22800	RRAS2	ORPHA:648
HP:0000159	Abnormal lip morphology	8216	LZTR1	ORPHA:648
HP:0000159	Abnormal lip morphology	6016	RIT1	ORPHA:648
HP:0000159	Abnormal lip morphology	6237	RRAS	ORPHA:648
HP:0000159	Abnormal lip morphology	6655	SOS2	ORPHA:648
HP:0000159	Abnormal lip morphology	5781	PTPN11	ORPHA:648
HP:0000159	Abnormal lip morphology	5922	RASA2	ORPHA:648
HP:0000159	Abnormal lip morphology	27077	B9D1	OMIM:617120
HP:0000159	Abnormal lip morphology	5696	PSMB8	OMIM:256040
HP:0000159	Abnormal lip morphology	271	AMPD2	OMIM:615809
HP:0000159	Abnormal lip morphology	341640	FREM2	ORPHA:2052
HP:0000159	Abnormal lip morphology	80144	FRAS1	ORPHA:2052
HP:0000159	Abnormal lip morphology	80144	FRAS1	OMIM:219000
HP:0000159	Abnormal lip morphology	23426	GRIP1	ORPHA:2052
HP:0000159	Abnormal lip morphology	128674	PROKR2	OMIM:244200
HP:0000159	Abnormal lip morphology	5648	MASP1	OMIM:257920
HP:0000159	Abnormal lip morphology	10992	SF3B2	OMIM:164210
HP:0000159	Abnormal lip morphology	23384	SPECC1L	OMIM:600251
HP:0000159	Abnormal lip morphology	4010	LMX1B	OMIM:161200
HP:0000159	Abnormal lip morphology	55112	DYNC2I1	ORPHA:93271
HP:0000159	Abnormal lip morphology	57560	IFT80	ORPHA:93271
HP:0000159	Abnormal lip morphology	79659	DYNC2H1	ORPHA:93271
HP:0000159	Abnormal lip morphology	79659	DYNC2H1	OMIM:613091
HP:0000159	Abnormal lip morphology	89891	DYNC2I2	ORPHA:93271
HP:0000159	Abnormal lip morphology	3728	JUP	ORPHA:34217
HP:0000159	Abnormal lip morphology	23322	RPGRIP1L	OMIM:611561
HP:0000159	Abnormal lip morphology	55636	CHD7	ORPHA:138
HP:0000159	Abnormal lip morphology	55636	CHD7	OMIM:214800
HP:0000159	Abnormal lip morphology	9723	SEMA3E	ORPHA:138
HP:0000159	Abnormal lip morphology	29954	POMT2	OMIM:236670
HP:0000159	Abnormal lip morphology	29954	POMT2	OMIM:613150
HP:0000159	Abnormal lip morphology	9215	LARGE1	OMIM:236670
HP:0000159	Abnormal lip morphology	79147	FKRP	OMIM:236670
HP:0000159	Abnormal lip morphology	10585	POMT1	OMIM:236670
HP:0000159	Abnormal lip morphology	2218	FKTN	OMIM:236670
HP:0000159	Abnormal lip morphology	10584	COLEC10	OMIM:248340
HP:0000159	Abnormal lip morphology	50814	NSDHL	OMIM:308050
HP:0000159	Abnormal lip morphology	340665	CYP26C1	ORPHA:398189
HP:0000159	Abnormal lip morphology	64093	SMOC1	ORPHA:1106
HP:0000159	Abnormal lip morphology	64093	SMOC1	OMIM:206920
HP:0000159	Abnormal lip morphology	60	ACTB	OMIM:607371
HP:0000159	Abnormal lip morphology	60	ACTB	OMIM:243310
HP:0000159	Abnormal lip morphology	79867	TCTN2	OMIM:613885
HP:0000159	Abnormal lip morphology	2737	GLI3	OMIM:146510
HP:0000159	Abnormal lip morphology	26227	PHGDH	OMIM:256520
HP:0000159	Abnormal lip morphology	64840	PORCN	OMIM:305600
HP:0000159	Abnormal lip morphology	1947	EFNB1	OMIM:304110
HP:0000159	Abnormal lip morphology	54880	BCOR	OMIM:309800
HP:0000159	Abnormal lip morphology	57545	CC2D2A	OMIM:612284
HP:0000159	Abnormal lip morphology	6125	RPL5	OMIM:612561
HP:0000159	Abnormal lip morphology	57514	ARHGAP31	OMIM:100300
HP:0000159	Abnormal lip morphology	157570	ESCO2	ORPHA:3103
HP:0000159	Abnormal lip morphology	157570	ESCO2	OMIM:268300
HP:0000159	Abnormal lip morphology	157570	ESCO2	OMIM:216100
HP:0000159	Abnormal lip morphology	84172	POLR1B	ORPHA:861
HP:0000159	Abnormal lip morphology	9533	POLR1C	ORPHA:861
HP:0000159	Abnormal lip morphology	51082	POLR1D	ORPHA:861
HP:0000159	Abnormal lip morphology	6949	TCOF1	ORPHA:861
HP:0000159	Abnormal lip morphology	1654	DDX3X	OMIM:300958
HP:0000159	Abnormal lip morphology	4488	MSX2	OMIM:168500
HP:0000159	Abnormal lip morphology	4222	MEOX1	OMIM:214300
HP:0000159	Abnormal lip morphology	139285	AMER1	OMIM:300373
HP:0000159	Abnormal lip morphology	2121	EVC	OMIM:225500
HP:0000159	Abnormal lip morphology	132884	EVC2	OMIM:225500
HP:0000159	Abnormal lip morphology	23483	TGDS	OMIM:616145
HP:0000159	Abnormal lip morphology	23133	PHF8	ORPHA:85287
HP:0000159	Abnormal lip morphology	25836	NIPBL	OMIM:122470
HP:0000159	Abnormal lip morphology	284058	KANSL1	OMIM:610443
HP:0000159	Abnormal lip morphology	11023	VAX1	OMIM:614402
HP:0000159	Abnormal lip morphology	2303	FOXC2	ORPHA:33001
HP:0000159	Abnormal lip morphology	2303	FOXC2	OMIM:153400
HP:0000159	Abnormal lip morphology	7473	WNT3	OMIM:273395
HP:0000159	Abnormal lip morphology	6223	RPS19	OMIM:105650
HP:0000159	Abnormal lip morphology	171023	ASXL1	OMIM:605039
HP:0000159	Abnormal lip morphology	2317	FLNB	OMIM:150250
HP:0000159	Abnormal lip morphology	55315	SLC29A3	ORPHA:168569
HP:0000159	Abnormal lip morphology	94	ACVRL1	OMIM:600376
HP:0000159	Abnormal lip morphology	2022	ENG	OMIM:187300
HP:0000159	Abnormal lip morphology	3930	LBR	OMIM:613471
HP:0000159	Abnormal lip morphology	79029	AFG2B	OMIM:619616
HP:0000159	Abnormal lip morphology	6201	RPS7	OMIM:612563
HP:0000159	Abnormal lip morphology	9562	MINPP1	ORPHA:284339
HP:0000159	Abnormal lip morphology	672	BRCA1	OMIM:617883
HP:0000159	Abnormal lip morphology	104	ADARB1	OMIM:618862
HP:0000159	Abnormal lip morphology	23241	PACS2	OMIM:618067
HP:0000159	Abnormal lip morphology	775	CACNA1C	OMIM:620029
HP:0000159	Abnormal lip morphology	775	CACNA1C	OMIM:601005
HP:0000159	Abnormal lip morphology	3703	STT3A	OMIM:619714
HP:0000159	Abnormal lip morphology	4774	NFIA	OMIM:613735
HP:0000159	Abnormal lip morphology	10300	KATNB1	OMIM:616212
HP:0000159	Abnormal lip morphology	80816	ASXL3	OMIM:615485
HP:0000159	Abnormal lip morphology	10026	PIGK	OMIM:618879
HP:0000159	Abnormal lip morphology	55788	LMBRD1	OMIM:277380
HP:0000159	Abnormal lip morphology	28960	DCPS	OMIM:616459
HP:0000159	Abnormal lip morphology	10978	CLP1	OMIM:615803
HP:0000159	Abnormal lip morphology	23325	WASHC4	OMIM:615817
HP:0000159	Abnormal lip morphology	5159	PDGFRB	OMIM:616592
HP:0000159	Abnormal lip morphology	51651	PTRH2	ORPHA:456312
HP:0000159	Abnormal lip morphology	51651	PTRH2	OMIM:616263
HP:0000159	Abnormal lip morphology	699	BUB1	OMIM:620183
HP:0000159	Abnormal lip morphology	4953	ODC1	OMIM:619075
HP:0000159	Abnormal lip morphology	8493	PPM1D	OMIM:617450
HP:0000159	Abnormal lip morphology	5063	PAK3	OMIM:300558
HP:0000159	Abnormal lip morphology	116115	ZNF526	OMIM:619877
HP:0000159	Abnormal lip morphology	3098	HK1	OMIM:618547
HP:0000159	Abnormal lip morphology	53335	BCL11A	OMIM:617101
HP:0000159	Abnormal lip morphology	92002	CCNQ	ORPHA:140952
HP:0000159	Abnormal lip morphology	92002	CCNQ	OMIM:300707
HP:0000159	Abnormal lip morphology	81887	LAS1L	ORPHA:3459
HP:0000159	Abnormal lip morphology	471	ATIC	OMIM:608688
HP:0000159	Abnormal lip morphology	471	ATIC	ORPHA:250977
HP:0000159	Abnormal lip morphology	1523	CUX1	OMIM:618330
HP:0000159	Abnormal lip morphology	55628	ZNF407	OMIM:619557
HP:0000159	Abnormal lip morphology	23028	KDM1A	OMIM:616728
HP:0000159	Abnormal lip morphology	23028	KDM1A	ORPHA:477993
HP:0000159	Abnormal lip morphology	7681	MKRN3	OMIM:176270
HP:0000159	Abnormal lip morphology	3653	IPW	OMIM:176270
HP:0000159	Abnormal lip morphology	791114	PWRN1	OMIM:176270
HP:0000159	Abnormal lip morphology	100033413	SNORD116-1	OMIM:176270
HP:0000159	Abnormal lip morphology	8924	HERC2	OMIM:176270
HP:0000159	Abnormal lip morphology	145624	PWAR1	OMIM:176270
HP:0000159	Abnormal lip morphology	23742	NPAP1	OMIM:176270
HP:0000159	Abnormal lip morphology	338433	SNORD115-1	OMIM:176270
HP:0000159	Abnormal lip morphology	5575	PRKAR1B	OMIM:619680
HP:0000159	Abnormal lip morphology	6492	SIM1	ORPHA:398079
HP:0000159	Abnormal lip morphology	6638	SNRPN	ORPHA:177901
HP:0000159	Abnormal lip morphology	6638	SNRPN	ORPHA:177907
HP:0000159	Abnormal lip morphology	4692	NDN	ORPHA:177901
HP:0000159	Abnormal lip morphology	4948	OCA2	ORPHA:177901
HP:0000159	Abnormal lip morphology	57211	ADGRG6	OMIM:616503
HP:0000159	Abnormal lip morphology	3759	KCNJ2	OMIM:170390
HP:0000159	Abnormal lip morphology	3759	KCNJ2	ORPHA:37553
HP:0000159	Abnormal lip morphology	7703	PCGF2	OMIM:618371
HP:0000159	Abnormal lip morphology	1457	CSNK2A1	OMIM:617062
HP:0000159	Abnormal lip morphology	23112	TNRC6B	OMIM:619243
HP:0000159	Abnormal lip morphology	112752	IFT43	OMIM:617866
HP:0000159	Abnormal lip morphology	10551	AGR2	OMIM:620233
HP:0000159	Abnormal lip morphology	55252	ASXL2	OMIM:617190
HP:0000159	Abnormal lip morphology	57020	VPS35L	OMIM:619135
HP:0000159	Abnormal lip morphology	1984	EIF5A	OMIM:619376
HP:0000159	Abnormal lip morphology	178	AGL	OMIM:232400
HP:0000159	Abnormal lip morphology	51780	KDM3B	OMIM:618846
HP:0000159	Abnormal lip morphology	3778	KCNMA1	OMIM:618729
HP:0000159	Abnormal lip morphology	4848	CNOT2	OMIM:618608
HP:0000159	Abnormal lip morphology	9276	COPB2	ORPHA:2512
HP:0000159	Abnormal lip morphology	9928	KIF14	ORPHA:2512
HP:0000159	Abnormal lip morphology	22995	CEP152	ORPHA:2512
HP:0000159	Abnormal lip morphology	284403	WDR62	ORPHA:2512
HP:0000159	Abnormal lip morphology	55262	TRAPPC14	ORPHA:2512
HP:0000159	Abnormal lip morphology	163786	SASS6	ORPHA:2512
HP:0000159	Abnormal lip morphology	84879	MFSD2A	ORPHA:2512
HP:0000159	Abnormal lip morphology	4176	MCM7	ORPHA:2512
HP:0000159	Abnormal lip morphology	80254	CEP63	ORPHA:2512
HP:0000159	Abnormal lip morphology	23310	NCAPD3	ORPHA:2512
HP:0000159	Abnormal lip morphology	55755	CDK5RAP2	ORPHA:2512
HP:0000159	Abnormal lip morphology	79648	MCPH1	ORPHA:2512
HP:0000159	Abnormal lip morphology	23141	ANKLE2	ORPHA:2512
HP:0000159	Abnormal lip morphology	259266	ASPM	ORPHA:2512
HP:0000159	Abnormal lip morphology	7109	TRAPPC10	ORPHA:2512
HP:0000159	Abnormal lip morphology	1911	PHC1	ORPHA:2512
HP:0000159	Abnormal lip morphology	6884	TAF13	ORPHA:2512
HP:0000159	Abnormal lip morphology	9662	CEP135	ORPHA:2512
HP:0000159	Abnormal lip morphology	55835	CENPJ	ORPHA:2512
HP:0000159	Abnormal lip morphology	57082	KNL1	ORPHA:2512
HP:0000159	Abnormal lip morphology	1021	CDK6	ORPHA:2512
HP:0000159	Abnormal lip morphology	11011	TLK2	OMIM:618050
HP:0000159	Abnormal lip morphology	27161	AGO2	OMIM:619149
HP:0000159	Abnormal lip morphology	3762	KCNJ5	ORPHA:37553
HP:0000159	Abnormal lip morphology	26235	FBXL4	OMIM:615471
HP:0000159	Abnormal lip morphology	55624	POMGNT1	OMIM:253280
HP:0000159	Abnormal lip morphology	2296	FOXC1	ORPHA:782
HP:0000159	Abnormal lip morphology	91179	SCARF2	OMIM:600920
HP:0000159	Abnormal lip morphology	55764	IFT122	ORPHA:1515
HP:0000159	Abnormal lip morphology	55764	IFT122	OMIM:218330
HP:0000159	Abnormal lip morphology	5980	REV3L	ORPHA:570
HP:0000159	Abnormal lip morphology	23129	PLXND1	ORPHA:570
HP:0000159	Abnormal lip morphology	2068	ERCC2	ORPHA:1466
HP:0000159	Abnormal lip morphology	2073	ERCC5	ORPHA:1466
HP:0000159	Abnormal lip morphology	151516	ASPRV1	ORPHA:313
HP:0000159	Abnormal lip morphology	242	ALOX12B	ORPHA:313
HP:0000159	Abnormal lip morphology	242	ALOX12B	OMIM:242100
HP:0000159	Abnormal lip morphology	126410	CYP4F22	ORPHA:313
HP:0000159	Abnormal lip morphology	6820	SULT2B1	ORPHA:313
HP:0000159	Abnormal lip morphology	643418	LIPN	ORPHA:313
HP:0000159	Abnormal lip morphology	348938	NIPAL4	ORPHA:313
HP:0000159	Abnormal lip morphology	121214	SDR9C7	ORPHA:313
HP:0000159	Abnormal lip morphology	57167	SALL4	ORPHA:233
HP:0000159	Abnormal lip morphology	9935	MAFB	ORPHA:233
HP:0000159	Abnormal lip morphology	1123	CHN1	ORPHA:233
HP:0000159	Abnormal lip morphology	1909	EDNRA	OMIM:616367
HP:0000159	Abnormal lip morphology	4190	MDH1	OMIM:618959
HP:0000159	Abnormal lip morphology	57192	MCOLN1	ORPHA:578
HP:0000159	Abnormal lip morphology	5080	PAX6	ORPHA:893
HP:0000159	Abnormal lip morphology	627	BDNF	ORPHA:893
HP:0000159	Abnormal lip morphology	7490	WT1	ORPHA:893
HP:0000159	Abnormal lip morphology	79989	IFT56	OMIM:619534
HP:0000159	Abnormal lip morphology	23389	MED13L	OMIM:616789
HP:0000159	Abnormal lip morphology	138050	HGSNAT	OMIM:252930
HP:0000159	Abnormal lip morphology	65992	DDRGK1	OMIM:602557
HP:0000159	Abnormal lip morphology	9526	MPDU1	OMIM:609180
HP:0000159	Abnormal lip morphology	9526	MPDU1	ORPHA:79323
HP:0000159	Abnormal lip morphology	7518	XRCC4	ORPHA:99812
HP:0000159	Abnormal lip morphology	3981	LIG4	ORPHA:99812
HP:0000159	Abnormal lip morphology	1482	NKX2-5	ORPHA:3303
HP:0000159	Abnormal lip morphology	137814	NKX2-6	ORPHA:3303
HP:0000159	Abnormal lip morphology	23414	ZFPM2	ORPHA:3303
HP:0000159	Abnormal lip morphology	2626	GATA4	ORPHA:3303
HP:0000159	Abnormal lip morphology	2626	GATA4	ORPHA:251071
HP:0000159	Abnormal lip morphology	3791	KDR	ORPHA:3303
HP:0000159	Abnormal lip morphology	2627	GATA6	ORPHA:3303
HP:0000159	Abnormal lip morphology	2657	GDF1	ORPHA:3303
HP:0000159	Abnormal lip morphology	182	JAG1	ORPHA:3303
HP:0000159	Abnormal lip morphology	140628	GATA5	ORPHA:3303
HP:0000159	Abnormal lip morphology	2324	FLT4	ORPHA:3303
HP:0000159	Abnormal lip morphology	10370	CITED2	ORPHA:3303
HP:0000159	Abnormal lip morphology	6812	STXBP1	ORPHA:495818
HP:0000159	Abnormal lip morphology	79068	FTO	OMIM:612938
HP:0000159	Abnormal lip morphology	90161	HS6ST2	OMIM:301025
HP:0000159	Abnormal lip morphology	9692	PRORP	OMIM:619737
HP:0000159	Abnormal lip morphology	55681	SCYL2	OMIM:618766
HP:0000159	Abnormal lip morphology	2735	GLI1	ORPHA:289
HP:0000159	Abnormal lip morphology	8091	HMGA2	ORPHA:94063
HP:0000159	Abnormal lip morphology	23592	LEMD3	ORPHA:94063
HP:0000159	Abnormal lip morphology	3977	LIFR	OMIM:601559
HP:0000159	Abnormal lip morphology	8550	MAPKAPK5	OMIM:619869
HP:0000159	Abnormal lip morphology	2752	GLUL	OMIM:610015
HP:0000159	Abnormal lip morphology	4000	LMNA	ORPHA:79474
HP:0000159	Abnormal lip morphology	4000	LMNA	ORPHA:740
HP:0000159	Abnormal lip morphology	80185	TTI2	ORPHA:391307
HP:0000159	Abnormal lip morphology	29895	MYL11	OMIM:619110
HP:0000159	Abnormal lip morphology	2887	GRB10	ORPHA:96182
HP:0000159	Abnormal lip morphology	10269	ZMPSTE24	ORPHA:740
HP:0000159	Abnormal lip morphology	2332	FMR1	ORPHA:261483
HP:0000159	Abnormal lip morphology	8815	BANF1	OMIM:614008
HP:0000159	Abnormal lip morphology	4693	NDP	ORPHA:649
HP:0000159	Abnormal lip morphology	56052	ALG1	OMIM:608540
HP:0000159	Abnormal lip morphology	10815	CPLX1	ORPHA:280
HP:0000159	Abnormal lip morphology	54872	PIGG	ORPHA:280
HP:0000159	Abnormal lip morphology	7469	NELFA	ORPHA:280
HP:0000159	Abnormal lip morphology	1487	CTBP1	ORPHA:280
HP:0000159	Abnormal lip morphology	3954	LETM1	ORPHA:280
HP:0000159	Abnormal lip morphology	7468	NSD2	ORPHA:280
HP:0000159	Abnormal lip morphology	83479	DDX59	ORPHA:2919
HP:0000159	Abnormal lip morphology	5818	NECTIN1	OMIM:225060
HP:0000159	Abnormal lip morphology	54551	MAGEL2	OMIM:615547
HP:0000159	Abnormal lip morphology	2245	FGD1	OMIM:305400
HP:0000159	Abnormal lip morphology	5977	DPF2	OMIM:618027
HP:0000159	Abnormal lip morphology	5977	DPF2	ORPHA:1465
HP:0000159	Abnormal lip morphology	60529	ALX4	OMIM:613451
HP:0000159	Abnormal lip morphology	60529	ALX4	ORPHA:228390
HP:0000159	Abnormal lip morphology	6601	SMARCC2	ORPHA:1465
HP:0000159	Abnormal lip morphology	6602	SMARCD1	ORPHA:1465
HP:0000159	Abnormal lip morphology	57492	ARID1B	ORPHA:1465
HP:0000159	Abnormal lip morphology	196528	ARID2	ORPHA:1465
HP:0000159	Abnormal lip morphology	6605	SMARCE1	ORPHA:1465
HP:0000159	Abnormal lip morphology	55107	ANO1	OMIM:620045
HP:0000159	Abnormal lip morphology	1009	CDH11	OMIM:211380
HP:0000159	Abnormal lip morphology	6513	SLC2A1	ORPHA:1942
HP:0000159	Abnormal lip morphology	8831	SYNGAP1	ORPHA:1942
HP:0000159	Abnormal lip morphology	1173	AP2M1	ORPHA:1942
HP:0000159	Abnormal lip morphology	6323	SCN1A	ORPHA:1942
HP:0000159	Abnormal lip morphology	1106	CHD2	ORPHA:1942
HP:0000159	Abnormal lip morphology	6529	SLC6A1	ORPHA:1942
HP:0000159	Abnormal lip morphology	78989	COLEC11	OMIM:265050
HP:0000159	Abnormal lip morphology	5881	RAC3	OMIM:618577
HP:0000159	Abnormal lip morphology	54499	TMCO1	ORPHA:1394
HP:0000159	Abnormal lip morphology	158	ADSL	OMIM:103050
HP:0000159	Abnormal lip morphology	158	ADSL	ORPHA:46
HP:0000159	Abnormal lip morphology	11253	MAN1B1	ORPHA:397941
HP:0000159	Abnormal lip morphology	11253	MAN1B1	OMIM:614202
HP:0000159	Abnormal lip morphology	23394	ADNP	ORPHA:404448
HP:0000159	Abnormal lip morphology	23394	ADNP	OMIM:615873
HP:0000159	Abnormal lip morphology	8367	H4C5	OMIM:619950
HP:0000159	Abnormal lip morphology	50651	SLC45A1	OMIM:617532
HP:0000159	Abnormal lip morphology	5885	RAD21	OMIM:614701
HP:0000159	Abnormal lip morphology	57539	WDR35	OMIM:613610
HP:0000159	Abnormal lip morphology	55209	SETD5	ORPHA:404440
HP:0000159	Abnormal lip morphology	55209	SETD5	OMIM:615761
HP:0000159	Abnormal lip morphology	9578	CDC42BPB	OMIM:619841
HP:0000159	Abnormal lip morphology	613	BCR	ORPHA:261330
HP:0000159	Abnormal lip morphology	1399	CRKL	ORPHA:261330
HP:0000159	Abnormal lip morphology	89910	UBE3B	OMIM:244450
HP:0000159	Abnormal lip morphology	89910	UBE3B	ORPHA:2707
HP:0000159	Abnormal lip morphology	55690	PACS1	OMIM:615009
HP:0000159	Abnormal lip morphology	55690	PACS1	ORPHA:329224
HP:0000159	Abnormal lip morphology	10472	ZBTB18	ORPHA:36367
HP:0000159	Abnormal lip morphology	10472	ZBTB18	OMIM:612337
HP:0000159	Abnormal lip morphology	26153	KIF26A	OMIM:620156
HP:0000159	Abnormal lip morphology	9382	COG1	OMIM:611209
HP:0000159	Abnormal lip morphology	9382	COG1	ORPHA:263508
HP:0000159	Abnormal lip morphology	56992	KIF15	ORPHA:261323
HP:0000159	Abnormal lip morphology	83696	TRAPPC9	OMIM:613192
HP:0000159	Abnormal lip morphology	55870	ASH1L	OMIM:617796
HP:0000159	Abnormal lip morphology	3899	AFF3	OMIM:619297
HP:0000159	Abnormal lip morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000159	Abnormal lip morphology	23545	ATP6V0A2	OMIM:278250
HP:0000159	Abnormal lip morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000159	Abnormal lip morphology	8546	AP3B1	OMIM:608233
HP:0000159	Abnormal lip morphology	10484	SEC23A	OMIM:607812
HP:0000159	Abnormal lip morphology	10484	SEC23A	ORPHA:50814
HP:0000159	Abnormal lip morphology	10087	CERT1	OMIM:616351
HP:0000159	Abnormal lip morphology	22884	WDR37	OMIM:618652
HP:0000159	Abnormal lip morphology	1193	CLIC2	ORPHA:324410
HP:0000159	Abnormal lip morphology	1656	DDX6	OMIM:618653
HP:0000159	Abnormal lip morphology	23036	ZNF292	OMIM:619188
HP:0000159	Abnormal lip morphology	55012	PPP2R3C	OMIM:618419
HP:0000159	Abnormal lip morphology	26057	ANKRD17	OMIM:619504
HP:0000159	Abnormal lip morphology	55623	THUMPD1	OMIM:619989
HP:0000159	Abnormal lip morphology	25942	SIN3A	OMIM:613406
HP:0000159	Abnormal lip morphology	25942	SIN3A	ORPHA:94065
HP:0000159	Abnormal lip morphology	1499	CTNNB1	ORPHA:404473
HP:0000159	Abnormal lip morphology	253738	EBF3	OMIM:617330
HP:0000159	Abnormal lip morphology	2200	FBN1	OMIM:614185
HP:0000159	Abnormal lip morphology	5792	PTPRF	OMIM:616001
HP:0000159	Abnormal lip morphology	8558	CDK10	OMIM:617694
HP:0000159	Abnormal lip morphology	9091	PIGQ	OMIM:618548
HP:0000159	Abnormal lip morphology	6899	TBX1	ORPHA:1727
HP:0000159	Abnormal lip morphology	6134	RPL10	ORPHA:459070
HP:0000159	Abnormal lip morphology	6134	RPL10	OMIM:300998
HP:0000159	Abnormal lip morphology	9719	ADAMTSL2	OMIM:231050
HP:0000159	Abnormal lip morphology	11128	POLR3A	OMIM:264090
HP:0000159	Abnormal lip morphology	285362	SUMF1	ORPHA:585
HP:0000159	Abnormal lip morphology	79796	ALG9	ORPHA:79328
HP:0000159	Abnormal lip morphology	79796	ALG9	OMIM:263210
HP:0000159	Abnormal lip morphology	283209	PGM2L1	OMIM:620191
HP:0000159	Abnormal lip morphology	79718	TBL1XR1	OMIM:602342
HP:0000159	Abnormal lip morphology	79718	TBL1XR1	ORPHA:487825
HP:0000159	Abnormal lip morphology	79228	THOC6	ORPHA:363444
HP:0000159	Abnormal lip morphology	7358	UGDH	OMIM:618792
HP:0000159	Abnormal lip morphology	124583	CANT1	OMIM:251450
HP:0000159	Abnormal lip morphology	8242	KDM5C	OMIM:300534
HP:0000159	Abnormal lip morphology	6611	SMS	OMIM:309583
HP:0000159	Abnormal lip morphology	6611	SMS	ORPHA:3063
HP:0000159	Abnormal lip morphology	147372	CCBE1	OMIM:235510
HP:0000159	Abnormal lip morphology	10533	ATG7	OMIM:619422
HP:0000159	Abnormal lip morphology	8295	TRRAP	OMIM:618454
HP:0000159	Abnormal lip morphology	9742	IFT140	OMIM:266920
HP:0000159	Abnormal lip morphology	54903	MKS1	OMIM:249000
HP:0000159	Abnormal lip morphology	8621	CDK13	OMIM:617360
HP:0000159	Abnormal lip morphology	2702	GJA5	OMIM:612474
HP:0000159	Abnormal lip morphology	2703	GJA8	OMIM:612474
HP:0000159	Abnormal lip morphology	22907	DHX30	OMIM:617804
HP:0000159	Abnormal lip morphology	51013	EXOSC1	OMIM:619304
HP:0000159	Abnormal lip morphology	7227	TRPS1	OMIM:190351
HP:0000159	Abnormal lip morphology	6857	SYT1	OMIM:618218
HP:0000159	Abnormal lip morphology	6857	SYT1	ORPHA:522077
HP:0000159	Abnormal lip morphology	81603	TRIM8	OMIM:619428
HP:0000159	Abnormal lip morphology	3480	IGF1R	ORPHA:73273
HP:0000159	Abnormal lip morphology	3480	IGF1R	OMIM:270450
HP:0000159	Abnormal lip morphology	91949	COG7	OMIM:608779
HP:0000159	Abnormal lip morphology	1281	COL3A1	OMIM:618343
HP:0000159	Abnormal lip morphology	54517	PUS7	OMIM:618342
HP:0000159	Abnormal lip morphology	10765	KDM5B	OMIM:618109
HP:0000159	Abnormal lip morphology	8573	CASK	OMIM:300749
HP:0000159	Abnormal lip morphology	57122	NUP107	OMIM:618348
HP:0000159	Abnormal lip morphology	57122	NUP107	OMIM:616730
HP:0000159	Abnormal lip morphology	128869	PIGU	OMIM:618590
HP:0000159	Abnormal lip morphology	7707	ZNF148	OMIM:617260
HP:0000159	Abnormal lip morphology	221496	LEMD2	OMIM:619322
HP:0000159	Abnormal lip morphology	4854	NOTCH3	OMIM:130720
HP:0000159	Abnormal lip morphology	4854	NOTCH3	ORPHA:2789
HP:0000159	Abnormal lip morphology	8882	ZPR1	OMIM:619321
HP:0000159	Abnormal lip morphology	473	RERE	OMIM:616975
HP:0000159	Abnormal lip morphology	10157	AASS	ORPHA:2203
HP:0000159	Abnormal lip morphology	4081	MAB21L1	OMIM:618479
HP:0000159	Abnormal lip morphology	9126	SMC3	OMIM:610759
HP:0000159	Abnormal lip morphology	64135	IFIH1	OMIM:182250
HP:0000159	Abnormal lip morphology	1725	DHPS	OMIM:618480
HP:0000159	Abnormal lip morphology	23221	RHOBTB2	OMIM:618004
HP:0000159	Abnormal lip morphology	10265	IRX5	OMIM:611174
HP:0000159	Abnormal lip morphology	201163	FLCN	OMIM:610883
HP:0000159	Abnormal lip morphology	29920	PYCR2	ORPHA:481152
HP:0000159	Abnormal lip morphology	29920	PYCR2	OMIM:616420
HP:0000159	Abnormal lip morphology	9969	MED13	OMIM:618009
HP:0000159	Abnormal lip morphology	1000	CDH2	OMIM:618929
HP:0000159	Abnormal lip morphology	22827	PUF60	ORPHA:508488
HP:0000159	Abnormal lip morphology	84188	FAR1	ORPHA:438178
HP:0000159	Abnormal lip morphology	25	ABL1	OMIM:617602
HP:0000159	Abnormal lip morphology	2475	MTOR	OMIM:616638
HP:0000159	Abnormal lip morphology	5000	ORC4	OMIM:613800
HP:0000159	Abnormal lip morphology	6304	SATB1	OMIM:619229
HP:0000159	Abnormal lip morphology	2313	FLI1	ORPHA:2308
HP:0000159	Abnormal lip morphology	8943	AP3D1	OMIM:617050
HP:0000159	Abnormal lip morphology	84265	POLR3GL	OMIM:619234
HP:0000159	Abnormal lip morphology	6711	SPTBN1	OMIM:619475
HP:0000159	Abnormal lip morphology	2033	EP300	OMIM:180849
HP:0000159	Abnormal lip morphology	1859	DYRK1A	OMIM:614104
HP:0000159	Abnormal lip morphology	29957	SLC25A24	OMIM:612289
HP:0000159	Abnormal lip morphology	91461	PKDCC	OMIM:618821
HP:0000159	Abnormal lip morphology	25914	RTTN	ORPHA:468631
HP:0000159	Abnormal lip morphology	8405	SPOP	OMIM:618828
HP:0000159	Abnormal lip morphology	63932	STEEP1	OMIM:301013
HP:0000159	Abnormal lip morphology	10682	EBP	OMIM:300960
HP:0000159	Abnormal lip morphology	5290	PIK3CA	OMIM:602501
HP:0000159	Abnormal lip morphology	2571	GAD1	OMIM:619124
HP:0000159	Abnormal lip morphology	374879	ZNF699	OMIM:619488
HP:0000159	Abnormal lip morphology	55617	TASP1	OMIM:618950
HP:0000159	Abnormal lip morphology	2316	FLNA	OMIM:300048
HP:0000159	Abnormal lip morphology	8239	USP9X	OMIM:300968
HP:0000159	Abnormal lip morphology	54870	QRICH1	OMIM:617982
HP:0000159	Abnormal lip morphology	5500	PPP1CB	OMIM:617506
HP:0000159	Abnormal lip morphology	118924	FRA10AC1	OMIM:620113
HP:0000159	Abnormal lip morphology	4094	MAF	OMIM:601088
HP:0000159	Abnormal lip morphology	54888	NSUN2	OMIM:611091
HP:0000159	Abnormal lip morphology	523	ATP6V1A	ORPHA:357074
HP:0000159	Abnormal lip morphology	529	ATP6V1E1	ORPHA:357074
HP:0000159	Abnormal lip morphology	10020	GNE	OMIM:269921
HP:0000159	Abnormal lip morphology	10020	GNE	ORPHA:3166
HP:0000159	Abnormal lip morphology	6651	SON	ORPHA:500150
HP:0000159	Abnormal lip morphology	25974	MMACHC	ORPHA:79282
HP:0000159	Abnormal lip morphology	25974	MMACHC	OMIM:277400
HP:0000159	Abnormal lip morphology	5557	PRIM1	OMIM:620005
HP:0000159	Abnormal lip morphology	10225	CD96	ORPHA:1308
HP:0000159	Abnormal lip morphology	55901	THSD1	OMIM:620244
HP:0000159	Abnormal lip morphology	10079	ATP9A	OMIM:620242
HP:0000159	Abnormal lip morphology	55181	SMG8	OMIM:619268
HP:0000159	Abnormal lip morphology	55331	ACER3	OMIM:617762
HP:0000159	Abnormal lip morphology	92935	MARS2	OMIM:616430
HP:0000159	Abnormal lip morphology	57728	WDR19	OMIM:614378
HP:0000159	Abnormal lip morphology	10844	TUBGCP2	OMIM:618737
HP:0000159	Abnormal lip morphology	1460	CSNK2B	OMIM:618732
HP:0000159	Abnormal lip morphology	5052	PRDX1	OMIM:277400
HP:0000159	Abnormal lip morphology	23126	POGZ	ORPHA:468678
HP:0000159	Abnormal lip morphology	23126	POGZ	OMIM:616364
HP:0000159	Abnormal lip morphology	4983	OPHN1	OMIM:300486
HP:0000159	Abnormal lip morphology	23118	TAB2	ORPHA:228410
HP:0000159	Abnormal lip morphology	116931	MED12L	OMIM:618872
HP:0000159	Abnormal lip morphology	54968	TMEM70	ORPHA:1194
HP:0000159	Abnormal lip morphology	10084	PQBP1	ORPHA:93945
HP:0000159	Abnormal lip morphology	10084	PQBP1	OMIM:309500
HP:0000159	Abnormal lip morphology	10847	SRCAP	ORPHA:2044
HP:0000159	Abnormal lip morphology	10847	SRCAP	OMIM:136140
HP:0000159	Abnormal lip morphology	25782	RAB3GAP2	OMIM:212720
HP:0000159	Abnormal lip morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000159	Abnormal lip morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000159	Abnormal lip morphology	150468	CKAP2L	ORPHA:3255
HP:0000159	Abnormal lip morphology	150468	CKAP2L	OMIM:272440
HP:0000159	Abnormal lip morphology	4038	LRP4	ORPHA:3258
HP:0000159	Abnormal lip morphology	324	APC	ORPHA:3258
HP:0000159	Abnormal lip morphology	10559	SLC35A1	OMIM:603585
HP:0000159	Abnormal lip morphology	7102	TSPAN7	OMIM:300210
HP:0000159	Abnormal lip morphology	157680	VPS13B	OMIM:216550
HP:0000159	Abnormal lip morphology	157680	VPS13B	ORPHA:193
HP:0000159	Abnormal lip morphology	79087	ALG12	OMIM:607143
HP:0000159	Abnormal lip morphology	79087	ALG12	ORPHA:79324
HP:0000159	Abnormal lip morphology	9839	ZEB2	ORPHA:261552
HP:0000159	Abnormal lip morphology	9839	ZEB2	ORPHA:261537
HP:0000159	Abnormal lip morphology	9896	FIG4	ORPHA:3472
HP:0000159	Abnormal lip morphology	9896	FIG4	OMIM:216340
HP:0000159	Abnormal lip morphology	55697	VAC14	ORPHA:3472
HP:0000159	Abnormal lip morphology	53834	FGFRL1	OMIM:194190
HP:0000159	Abnormal lip morphology	10716	TBR1	ORPHA:1617
HP:0000159	Abnormal lip morphology	2615	LRRC32	OMIM:619074
HP:0000159	Abnormal lip morphology	26038	CHD5	OMIM:619873
HP:0000159	Abnormal lip morphology	7862	BRPF1	OMIM:617333
HP:0000159	Abnormal lip morphology	1857	DVL3	ORPHA:3107
HP:0000159	Abnormal lip morphology	7474	WNT5A	ORPHA:3107
HP:0000159	Abnormal lip morphology	1855	DVL1	ORPHA:3107
HP:0000159	Abnormal lip morphology	8363	H4C11	OMIM:619759
HP:0000159	Abnormal lip morphology	9508	ADAMTS3	ORPHA:2136
HP:0000159	Abnormal lip morphology	10013	HDAC6	ORPHA:163966
HP:0000159	Abnormal lip morphology	10907	TXNL4A	OMIM:608572
HP:0000159	Abnormal lip morphology	57459	GATAD2B	ORPHA:363686
HP:0000159	Abnormal lip morphology	57459	GATAD2B	OMIM:615074
HP:0000159	Abnormal lip morphology	4849	CNOT3	OMIM:618672
HP:0000159	Abnormal lip morphology	25973	PARS2	OMIM:618437
HP:0000159	Abnormal lip morphology	23065	EMC1	ORPHA:480898
HP:0000159	Abnormal lip morphology	23065	EMC1	OMIM:616875
HP:0000159	Abnormal lip morphology	668	FOXL2	ORPHA:572333
HP:0000159	Abnormal lip morphology	4208	MEF2C	ORPHA:228384
HP:0000159	Abnormal lip morphology	4208	MEF2C	OMIM:613443
HP:0000159	Abnormal lip morphology	23162	MAPK8IP3	OMIM:618443
HP:0000159	Abnormal lip morphology	64919	BCL11B	OMIM:617237
HP:0000159	Abnormal lip morphology	7994	KAT6A	OMIM:616268
HP:0000159	Abnormal lip morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000159	Abnormal lip morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000159	Abnormal lip morphology	117581	TWIST2	ORPHA:1807
HP:0000159	Abnormal lip morphology	3658	IREB2	OMIM:618451
HP:0000159	Abnormal lip morphology	55081	IFT57	OMIM:617927
HP:0000159	Abnormal lip morphology	6888	TALDO1	OMIM:606003
HP:0000159	Abnormal lip morphology	10075	HUWE1	OMIM:309590
HP:0000159	Abnormal lip morphology	11160	ERLIN2	ORPHA:280384
HP:0000159	Abnormal lip morphology	11160	ERLIN2	ORPHA:209951
HP:0000159	Abnormal lip morphology	55217	TMLHE	OMIM:300872
HP:0000159	Abnormal lip morphology	30000	TNPO2	OMIM:619556
HP:0000159	Abnormal lip morphology	29926	GMPPA	OMIM:615510
HP:0000159	Abnormal lip morphology	6885	MAP3K7	OMIM:617137
HP:0000159	Abnormal lip morphology	5745	PTH1R	OMIM:600002
HP:0000159	Abnormal lip morphology	5515	PPP2CA	OMIM:618354
HP:0000159	Abnormal lip morphology	2782	GNB1	OMIM:616973
HP:0000159	Abnormal lip morphology	55784	MCTP2	ORPHA:1596
HP:0000159	Abnormal lip morphology	3097	HIVEP2	OMIM:616977
HP:0000159	Abnormal lip morphology	51114	ZDHHC9	ORPHA:776
HP:0000159	Abnormal lip morphology	65109	UPF3B	ORPHA:776
HP:0000159	Abnormal lip morphology	2067	ERCC1	OMIM:610758
HP:0000159	Abnormal lip morphology	57551	TAOK1	OMIM:619575
HP:0000159	Abnormal lip morphology	5308	PITX2	OMIM:180500
HP:0000159	Abnormal lip morphology	1312	COMT	ORPHA:567
HP:0000159	Abnormal lip morphology	221037	JMJD1C	ORPHA:567
HP:0000159	Abnormal lip morphology	2812	GP1BB	ORPHA:567
HP:0000159	Abnormal lip morphology	6239	RREB1	ORPHA:567
HP:0000159	Abnormal lip morphology	7290	HIRA	ORPHA:567
HP:0000159	Abnormal lip morphology	9632	SEC24C	ORPHA:567
HP:0000159	Abnormal lip morphology	7353	UFD1	ORPHA:567
HP:0000159	Abnormal lip morphology	421	ARVCF	ORPHA:567
HP:0000159	Abnormal lip morphology	9241	NOG	OMIM:186500
HP:0000159	Abnormal lip morphology	5718	PSMD12	ORPHA:529962
HP:0000159	Abnormal lip morphology	2186	BPTF	ORPHA:529962
HP:0000159	Abnormal lip morphology	79576	NKAP	OMIM:301039
HP:0000159	Abnormal lip morphology	5144	PDE4D	ORPHA:439822
HP:0000159	Abnormal lip morphology	158326	FREM1	OMIM:608980
HP:0000159	Abnormal lip morphology	57498	KIDINS220	OMIM:617296
HP:0000159	Abnormal lip morphology	10664	CTCF	ORPHA:363611
HP:0000159	Abnormal lip morphology	5702	PSMC3	OMIM:619354
HP:0000159	Abnormal lip morphology	54361	WNT4	ORPHA:247768
HP:0000159	Abnormal lip morphology	80036	TRPM3	OMIM:620224
HP:0000159	Abnormal lip morphology	2132	EXT2	ORPHA:52022
HP:0000159	Abnormal lip morphology	51317	PHF21A	ORPHA:52022
HP:0000159	Abnormal lip morphology	10651	MTX2	OMIM:619127
HP:0000159	Abnormal lip morphology	6472	SHMT2	OMIM:619121
HP:0000159	Abnormal lip morphology	83737	ITCH	OMIM:613385
HP:0000159	Abnormal lip morphology	28952	CCDC22	OMIM:300963
HP:0000159	Abnormal lip morphology	6786	STIM1	OMIM:185070
HP:0000159	Abnormal lip morphology	2893	GRIA4	OMIM:617864
HP:0000159	Abnormal lip morphology	8450	CUL4B	ORPHA:85293
HP:0000159	Abnormal lip morphology	7291	TWIST1	OMIM:617746
HP:0000159	Abnormal lip morphology	93587	TRMT10A	ORPHA:391408
HP:0000159	Abnormal lip morphology	84919	PPP1R15B	ORPHA:391408
HP:0000159	Abnormal lip morphology	55023	PHIP	OMIM:617991
HP:0000159	Abnormal lip morphology	738	VPS51	OMIM:618606
HP:0000159	Abnormal lip morphology	11043	MID2	OMIM:300928
HP:0000159	Abnormal lip morphology	22931	RAB18	ORPHA:2510
HP:0000159	Abnormal lip morphology	128637	TBC1D20	ORPHA:2510
HP:0000159	Abnormal lip morphology	860	RUNX2	OMIM:156510
HP:0000159	Abnormal lip morphology	57647	DHX37	OMIM:618731
HP:0000159	Abnormal lip morphology	5566	PRKACA	OMIM:619142
HP:0000159	Abnormal lip morphology	2036	EPB41L1	OMIM:614257
HP:0000159	Abnormal lip morphology	2137	EXTL3	ORPHA:508533
HP:0000159	Abnormal lip morphology	51399	TRAPPC4	OMIM:618741
HP:0000159	Abnormal lip morphology	23019	CNOT1	OMIM:618500
HP:0000159	Abnormal lip morphology	28981	IFT81	OMIM:617895
HP:0000159	Abnormal lip morphology	5728	PTEN	OMIM:605309
HP:0000159	Abnormal lip morphology	5728	PTEN	ORPHA:109
HP:0000159	Abnormal lip morphology	8425	LTBP4	OMIM:613177
HP:0000159	Abnormal lip morphology	9820	CUL7	ORPHA:2616
HP:0000159	Abnormal lip morphology	9820	CUL7	OMIM:273750
HP:0000159	Abnormal lip morphology	7360	UGP2	OMIM:618744
HP:0000159	Abnormal lip morphology	538	ATP7A	OMIM:304150
HP:0000159	Abnormal lip morphology	538	ATP7A	ORPHA:198
HP:0000159	Abnormal lip morphology	5457	POU4F1	ORPHA:314647
HP:0000159	Abnormal lip morphology	23261	CAMTA1	ORPHA:314647
HP:0000159	Abnormal lip morphology	23261	CAMTA1	OMIM:614756
HP:0000159	Abnormal lip morphology	1836	SLC26A2	ORPHA:56304
HP:0000159	Abnormal lip morphology	1836	SLC26A2	ORPHA:93298
HP:0000159	Abnormal lip morphology	197131	UBR1	OMIM:243800
HP:0000159	Abnormal lip morphology	3021	H3-3B	OMIM:619721
HP:0000159	Abnormal lip morphology	51741	WWOX	OMIM:616211
HP:0000159	Abnormal lip morphology	55790	CSGALNACT1	OMIM:618870
HP:0000159	Abnormal lip morphology	79639	TMEM53	OMIM:619727
HP:0000159	Abnormal lip morphology	79158	GNPTAB	OMIM:252500
HP:0000159	Abnormal lip morphology	57589	RIC1	OMIM:618761
HP:0000159	Abnormal lip morphology	79868	ALG13	ORPHA:324422
HP:0000159	Abnormal lip morphology	818	CAMK2G	OMIM:618522
HP:0000159	Abnormal lip morphology	9469	CHST3	OMIM:143095
HP:0000159	Abnormal lip morphology	9469	CHST3	ORPHA:263463
HP:0000159	Abnormal lip morphology	9469	CHST3	OMIM:245600
HP:0000159	Abnormal lip morphology	113189	CHST14	ORPHA:2953
HP:0000159	Abnormal lip morphology	113189	CHST14	OMIM:601776
HP:0000159	Abnormal lip morphology	29940	DSE	ORPHA:2953
HP:0000159	Abnormal lip morphology	29940	DSE	OMIM:615539
HP:0000159	Abnormal lip morphology	4853	NOTCH2	OMIM:102500
HP:0000159	Abnormal lip morphology	4853	NOTCH2	ORPHA:955
HP:0000159	Abnormal lip morphology	79184	BRCC3	ORPHA:280679
HP:0000159	Abnormal lip morphology	6872	TAF1	ORPHA:480907
HP:0000159	Abnormal lip morphology	6872	TAF1	OMIM:300966
HP:0000159	Abnormal lip morphology	1301	COL11A1	OMIM:228520
HP:0000159	Abnormal lip morphology	1301	COL11A1	ORPHA:560
HP:0000159	Abnormal lip morphology	1301	COL11A1	OMIM:154780
HP:0000159	Abnormal lip morphology	55714	TENM3	OMIM:615145
HP:0000159	Abnormal lip morphology	1280	COL2A1	ORPHA:90653
HP:0000159	Abnormal lip morphology	1280	COL2A1	ORPHA:166100
HP:0000159	Abnormal lip morphology	1280	COL2A1	OMIM:200610
HP:0000159	Abnormal lip morphology	64132	XYLT2	ORPHA:85194
HP:0000159	Abnormal lip morphology	4247	MGAT2	OMIM:212066
HP:0000159	Abnormal lip morphology	2074	ERCC6	OMIM:214150
HP:0000159	Abnormal lip morphology	29081	METTL5	OMIM:618665
HP:0000159	Abnormal lip morphology	6905	TBCE	OMIM:241410
HP:0000159	Abnormal lip morphology	6905	TBCE	ORPHA:2323
HP:0000159	Abnormal lip morphology	57680	CHD8	OMIM:615032
HP:0000159	Abnormal lip morphology	51633	OTUD6B	OMIM:617452
HP:0000159	Abnormal lip morphology	51633	OTUD6B	ORPHA:505237
HP:0000159	Abnormal lip morphology	55699	IARS2	OMIM:616007
HP:0000159	Abnormal lip morphology	27125	AFF4	OMIM:616368
HP:0000159	Abnormal lip morphology	27125	AFF4	ORPHA:444077
HP:0000159	Abnormal lip morphology	5590	PRKCZ	ORPHA:1606
HP:0000159	Abnormal lip morphology	2563	GABRD	ORPHA:1606
HP:0000159	Abnormal lip morphology	8510	MMP23B	ORPHA:1606
HP:0000159	Abnormal lip morphology	7798	LUZP1	ORPHA:1606
HP:0000159	Abnormal lip morphology	6497	SKI	ORPHA:1606
HP:0000159	Abnormal lip morphology	10630	PDPN	ORPHA:1606
HP:0000159	Abnormal lip morphology	3339	HSPG2	ORPHA:1606
HP:0000159	Abnormal lip morphology	3339	HSPG2	ORPHA:800
HP:0000159	Abnormal lip morphology	10277	UBE4B	ORPHA:1606
HP:0000159	Abnormal lip morphology	8514	KCNAB2	ORPHA:1606
HP:0000159	Abnormal lip morphology	63976	PRDM16	ORPHA:1606
HP:0000159	Abnormal lip morphology	54897	CASZ1	ORPHA:1606
HP:0000159	Abnormal lip morphology	200424	TET3	OMIM:618798
HP:0000159	Abnormal lip morphology	2683	B4GALT1	ORPHA:79332
HP:0000159	Abnormal lip morphology	5373	PMM2	ORPHA:79318
HP:0000159	Abnormal lip morphology	388662	SLC6A17	OMIM:616269
HP:0000159	Abnormal lip morphology	388662	SLC6A17	ORPHA:457212
HP:0000159	Abnormal lip morphology	84168	ANTXR1	OMIM:230740
HP:0000159	Abnormal lip morphology	84168	ANTXR1	ORPHA:2067
HP:0000159	Abnormal lip morphology	26173	INTS1	OMIM:618571
HP:0000159	Abnormal lip morphology	6878	TAF6	OMIM:617126
HP:0000159	Abnormal lip morphology	4921	DDR2	OMIM:271665
HP:0000159	Abnormal lip morphology	4703	NEB	OMIM:256030
HP:0000159	Abnormal lip morphology	4703	NEB	ORPHA:171433
HP:0000159	Abnormal lip morphology	55869	HDAC8	OMIM:300882
HP:0000159	Abnormal lip morphology	55869	HDAC8	ORPHA:199
HP:0000159	Abnormal lip morphology	2972	BRF1	ORPHA:444072
HP:0000159	Abnormal lip morphology	1349	COX7B	OMIM:300887
HP:0000159	Abnormal lip morphology	91754	NEK9	OMIM:617022
HP:0000159	Abnormal lip morphology	650	BMP2	ORPHA:261295
HP:0000159	Abnormal lip morphology	650	BMP2	OMIM:617877
HP:0000159	Abnormal lip morphology	4952	OCRL	ORPHA:534
HP:0000159	Abnormal lip morphology	3417	IDH1	ORPHA:99646
HP:0000159	Abnormal lip morphology	16	AARS1	OMIM:619691
HP:0000159	Abnormal lip morphology	4621	MYH3	OMIM:193700
HP:0000159	Abnormal lip morphology	4621	MYH3	ORPHA:2053
HP:0000159	Abnormal lip morphology	4621	MYH3	ORPHA:2990
HP:0000159	Abnormal lip morphology	153642	ARSK	OMIM:619698
HP:0000159	Abnormal lip morphology	4052	LTBP1	OMIM:619451
HP:0000159	Abnormal lip morphology	54496	PRMT7	OMIM:617157
HP:0000159	Abnormal lip morphology	54496	PRMT7	ORPHA:464288
HP:0000159	Abnormal lip morphology	10082	GPC6	OMIM:258315
HP:0000159	Abnormal lip morphology	10082	GPC6	ORPHA:93329
HP:0000159	Abnormal lip morphology	551	AVP	OMIM:125700
HP:0000159	Abnormal lip morphology	5831	PYCR1	OMIM:612940
HP:0000159	Abnormal lip morphology	7136	TNNI2	OMIM:601680
HP:0000159	Abnormal lip morphology	164	AP1G1	OMIM:619467
HP:0000159	Abnormal lip morphology	1822	ATN1	OMIM:618494
HP:0000159	Abnormal lip morphology	1302	COL11A2	ORPHA:166100
HP:0000159	Abnormal lip morphology	9244	CRLF1	OMIM:272430
HP:0000159	Abnormal lip morphology	9244	CRLF1	ORPHA:1545
HP:0000159	Abnormal lip morphology	11212	PLPBP	OMIM:617290
HP:0000159	Abnormal lip morphology	8812	CCNK	OMIM:618147
HP:0000159	Abnormal lip morphology	9851	KIAA0753	OMIM:619479
HP:0000159	Abnormal lip morphology	2006	ELN	OMIM:123700
HP:0000159	Abnormal lip morphology	2006	ELN	ORPHA:904
HP:0000159	Abnormal lip morphology	2006	ELN	OMIM:194050
HP:0000159	Abnormal lip morphology	57465	TBC1D24	ORPHA:79500
HP:0000159	Abnormal lip morphology	57465	TBC1D24	OMIM:220500
HP:0000159	Abnormal lip morphology	2131	EXT1	ORPHA:502
HP:0000159	Abnormal lip morphology	3636	INPPL1	OMIM:258480
HP:0000159	Abnormal lip morphology	203068	TUBB	OMIM:156610
HP:0000159	Abnormal lip morphology	203068	TUBB	ORPHA:2505
HP:0000159	Abnormal lip morphology	440138	ALG11	ORPHA:280071
HP:0000159	Abnormal lip morphology	5528	PPP2R5D	ORPHA:457279
HP:0000159	Abnormal lip morphology	4781	NFIB	OMIM:618286
HP:0000159	Abnormal lip morphology	10491	CRTAP	OMIM:610682
HP:0000159	Abnormal lip morphology	51594	NBAS	OMIM:614800
HP:0000159	Abnormal lip morphology	3295	HSD17B4	OMIM:261515
HP:0000159	Abnormal lip morphology	3735	KARS1	OMIM:619147
HP:0000159	Abnormal lip morphology	84842	HPDL	OMIM:619026
HP:0000159	Abnormal lip morphology	27445	PCLO	OMIM:608027
HP:0000159	Abnormal lip morphology	25886	POC1A	OMIM:614813
HP:0000159	Abnormal lip morphology	6309	SC5D	ORPHA:46059
HP:0000159	Abnormal lip morphology	6309	SC5D	OMIM:607330
HP:0000159	Abnormal lip morphology	84282	RNF135	ORPHA:137634
HP:0000159	Abnormal lip morphology	58	ACTA1	ORPHA:171433
HP:0000159	Abnormal lip morphology	10324	KLHL41	ORPHA:171433
HP:0000159	Abnormal lip morphology	7170	TPM3	ORPHA:171433
HP:0000159	Abnormal lip morphology	6662	SOX9	OMIM:114290
HP:0000159	Abnormal lip morphology	1717	DHCR7	ORPHA:818
HP:0000159	Abnormal lip morphology	1717	DHCR7	OMIM:270400
HP:0000159	Abnormal lip morphology	1185	CLCN6	OMIM:619173
HP:0000159	Abnormal lip morphology	1146	CHRNG	OMIM:265000
HP:0000159	Abnormal lip morphology	1146	CHRNG	ORPHA:2990
HP:0000159	Abnormal lip morphology	4001	LMNB1	OMIM:619179
HP:0000159	Abnormal lip morphology	80204	FBXO11	OMIM:618089
HP:0000159	Abnormal lip morphology	55148	UBR7	OMIM:619189
HP:0000159	Abnormal lip morphology	1954	MEGF8	OMIM:614976
HP:0000159	Abnormal lip morphology	649	BMP1	OMIM:614856
HP:0000159	Abnormal lip morphology	124512	METTL23	OMIM:615942
HP:0000159	Abnormal lip morphology	79053	ALG8	OMIM:608104
HP:0000159	Abnormal lip morphology	23265	EXOC7	OMIM:619072
HP:0000159	Abnormal lip morphology	4593	MUSK	OMIM:208150
HP:0000159	Abnormal lip morphology	51660	MPC1	OMIM:614741
HP:0000159	Abnormal lip morphology	6804	STX1A	ORPHA:904
HP:0000159	Abnormal lip morphology	7461	CLIP2	ORPHA:904
HP:0000159	Abnormal lip morphology	84277	DNAJC30	ORPHA:904
HP:0000159	Abnormal lip morphology	8468	FKBP6	ORPHA:904
HP:0000159	Abnormal lip morphology	5982	RFC2	ORPHA:904
HP:0000159	Abnormal lip morphology	2969	GTF2I	ORPHA:904
HP:0000159	Abnormal lip morphology	3984	LIMK1	ORPHA:904
HP:0000159	Abnormal lip morphology	9569	GTF2IRD1	ORPHA:904
HP:0000159	Abnormal lip morphology	155382	VPS37D	ORPHA:904
HP:0000159	Abnormal lip morphology	155368	METTL27	ORPHA:904
HP:0000159	Abnormal lip morphology	114049	BUD23	ORPHA:904
HP:0000159	Abnormal lip morphology	7458	EIF4H	ORPHA:904
HP:0000159	Abnormal lip morphology	84163	GTF2IRD2	ORPHA:904
HP:0000159	Abnormal lip morphology	9275	BCL7B	ORPHA:904
HP:0000159	Abnormal lip morphology	26608	TBL2	ORPHA:904
HP:0000159	Abnormal lip morphology	653361	NCF1	ORPHA:904
HP:0000159	Abnormal lip morphology	135886	TMEM270	ORPHA:904
HP:0000159	Abnormal lip morphology	51085	MLXIPL	ORPHA:904
HP:0000159	Abnormal lip morphology	51085	MLXIPL	OMIM:194050
HP:0000159	Abnormal lip morphology	9031	BAZ1B	ORPHA:904
HP:0000159	Abnormal lip morphology	23345	SYNE1	ORPHA:319332
HP:0000159	Abnormal lip morphology	55719	SLF2	OMIM:620184
HP:0000159	Abnormal lip morphology	9321	TRIP11	OMIM:184260
HP:0000159	Abnormal lip morphology	9321	TRIP11	ORPHA:93299
HP:0000159	Abnormal lip morphology	23522	KAT6B	ORPHA:85201
HP:0000159	Abnormal lip morphology	55670	PEX26	OMIM:614872
HP:0000159	Abnormal lip morphology	5591	PRKDC	OMIM:615966
HP:0000159	Abnormal lip morphology	63895	PIEZO2	OMIM:248700
HP:0000159	Abnormal lip morphology	81031	SLC2A10	OMIM:208050
HP:0000159	Abnormal lip morphology	9652	SKIC3	OMIM:222470
HP:0000159	Abnormal lip morphology	2146	EZH2	OMIM:277590
HP:0000159	Abnormal lip morphology	2146	EZH2	ORPHA:3447
HP:0000159	Abnormal lip morphology	80324	PUS1	ORPHA:2598
HP:0000159	Abnormal lip morphology	51067	YARS2	ORPHA:2598
HP:0000159	Abnormal lip morphology	701	BUB1B	OMIM:257300
HP:0000159	Abnormal lip morphology	64324	NSD1	ORPHA:3447
HP:0000159	Abnormal lip morphology	8726	EED	ORPHA:3447
HP:0000159	Abnormal lip morphology	23512	SUZ12	ORPHA:3447
HP:0000159	Abnormal lip morphology	28962	OSTM1	OMIM:259720
HP:0000159	Abnormal lip morphology	10586	MAB21L2	OMIM:615877
HP:0000159	Abnormal lip morphology	85358	SHANK3	OMIM:606232
HP:0000159	Abnormal lip morphology	79650	USB1	OMIM:604173
HP:0000159	Abnormal lip morphology	5160	PDHA1	OMIM:312170
HP:0000159	Abnormal lip morphology	5447	POR	OMIM:207410
HP:0000159	Abnormal lip morphology	2263	FGFR2	OMIM:207410
HP:0000159	Abnormal lip morphology	169792	GLIS3	OMIM:610199
HP:0000159	Abnormal lip morphology	3767	KCNJ11	ORPHA:79134
HP:0000159	Abnormal lip morphology	79731	NARS2	ORPHA:79134
HP:0000159	Abnormal lip morphology	6833	ABCC8	ORPHA:79134
HP:0000159	Abnormal lip morphology	2720	GLB1	ORPHA:79255
HP:0000159	Abnormal lip morphology	5053	PAH	ORPHA:2209
HP:0000159	Abnormal lip morphology	389827	MYMK	ORPHA:1358
HP:0000159	Abnormal lip morphology	101929726	MYMX	ORPHA:1358
HP:0000159	Abnormal lip morphology	101929726	MYMX	OMIM:619941
HP:0000159	Abnormal lip morphology	84679	SLC9A7	OMIM:301024
HP:0000159	Abnormal lip morphology	10352	WARS2	OMIM:617710
HP:0000159	Abnormal lip morphology	134701	RIPPLY2	ORPHA:2311
HP:0000159	Abnormal lip morphology	10683	DLL3	ORPHA:2311
HP:0000159	Abnormal lip morphology	3955	LFNG	ORPHA:2311
HP:0000159	Abnormal lip morphology	84667	HES7	ORPHA:2311
HP:0000159	Abnormal lip morphology	145873	MESP2	ORPHA:2311
HP:0000159	Abnormal lip morphology	5604	MAP2K1	ORPHA:1340
HP:0000159	Abnormal lip morphology	5605	MAP2K2	ORPHA:1340
HP:0000159	Abnormal lip morphology	3845	KRAS	ORPHA:1340
HP:0000159	Abnormal lip morphology	2248	FGF3	ORPHA:2791
HP:0000159	Abnormal lip morphology	23476	BRD4	ORPHA:199
HP:0000159	Abnormal lip morphology	6628	SNRPB	OMIM:117650
HP:0000159	Abnormal lip morphology	71	ACTG1	OMIM:614583
HP:0000159	Abnormal lip morphology	71	ACTG1	ORPHA:2995
HP:0000159	Abnormal lip morphology	1213	CLTC	OMIM:617854
HP:0000159	Abnormal lip morphology	1861	TOR1A	OMIM:618947
HP:0000159	Abnormal lip morphology	4659	PPP1R12A	OMIM:618820
HP:0000159	Abnormal lip morphology	4893	NRAS	OMIM:137550
HP:0000159	Abnormal lip morphology	3265	HRAS	OMIM:137550
HP:0000159	Abnormal lip morphology	28957	MRPS28	OMIM:618958
HP:0000159	Abnormal lip morphology	100506658	OCLN	OMIM:251290
HP:0000159	Abnormal lip morphology	113246	C12orf57	OMIM:218340
HP:0000159	Abnormal lip morphology	6591	SNAI2	ORPHA:2884
HP:0000159	Abnormal lip morphology	3815	KIT	ORPHA:2884
HP:0000159	Abnormal lip morphology	84700	MYO18B	OMIM:616549
HP:0000159	Abnormal lip morphology	23529	CLCF1	ORPHA:1545
HP:0000159	Abnormal lip morphology	26229	B3GAT3	OMIM:245600
HP:0000159	Abnormal lip morphology	23404	EXOSC2	OMIM:617763
HP:0000159	Abnormal lip morphology	22861	NLRP1	OMIM:615225
HP:0000159	Abnormal lip morphology	9181	ARHGEF2	OMIM:617523
HP:0000159	Abnormal lip morphology	10982	MAPRE2	ORPHA:2505
HP:0000159	Abnormal lip morphology	94005	PIGS	OMIM:618143
HP:0000159	Abnormal lip morphology	3572	IL6ST	OMIM:619750
HP:0000159	Abnormal lip morphology	51126	NAA20	OMIM:619717
HP:0000159	Abnormal lip morphology	8818	DPM2	ORPHA:329178
HP:0000159	Abnormal lip morphology	1806	DPYD	ORPHA:1675
HP:0000159	Abnormal lip morphology	9915	ARNT2	OMIM:615926
HP:0000159	Abnormal lip morphology	4626	MYH8	OMIM:158300
HP:0000159	Abnormal lip morphology	4256	MGP	OMIM:245150
HP:0000159	Abnormal lip morphology	114034	TOE1	OMIM:614969
HP:0000159	Abnormal lip morphology	22856	CHSY1	OMIM:605282
HP:0000159	Abnormal lip morphology	5087	PBX1	OMIM:617641
HP:0000159	Abnormal lip morphology	8036	SHOC2	ORPHA:2701
HP:0000159	Abnormal lip morphology	51025	PAM16	OMIM:613320
HP:0000159	Abnormal lip morphology	4858	NOVA2	OMIM:618859
HP:0000159	Abnormal lip morphology	2783	GNB2	OMIM:619503
HP:0000159	Abnormal lip morphology	7319	UBE2A	ORPHA:163956
HP:0000159	Abnormal lip morphology	9343	EFTUD2	OMIM:610536
HP:0000159	Abnormal lip morphology	3192	HNRNPU	ORPHA:238769
HP:0000159	Abnormal lip morphology	6595	SMARCA2	OMIM:619293
HP:0000159	Abnormal lip morphology	5898	RALA	OMIM:619311
HP:0000159	Abnormal lip morphology	7355	SLC35A2	OMIM:300896
HP:0000159	Abnormal lip morphology	9320	TRIP12	OMIM:617752
HP:0000159	Abnormal lip morphology	145173	B3GLCT	OMIM:261540
HP:0000159	Abnormal lip morphology	145173	B3GLCT	ORPHA:709
HP:0000159	Abnormal lip morphology	6659	SOX4	OMIM:618506
HP:0000159	Abnormal lip morphology	79753	SNIP1	OMIM:614501
HP:0000159	Abnormal lip morphology	773	CACNA1A	ORPHA:2131
HP:0000159	Abnormal lip morphology	6507	SLC1A3	ORPHA:2131
HP:0000159	Abnormal lip morphology	477	ATP1A2	ORPHA:2131
HP:0000159	Abnormal lip morphology	478	ATP1A3	ORPHA:2131
HP:0000159	Abnormal lip morphology	3190	HNRNPK	ORPHA:352665
HP:0000159	Abnormal lip morphology	3190	HNRNPK	ORPHA:453504
HP:0000159	Abnormal lip morphology	11198	SUPT16H	OMIM:619480
HP:0000159	Abnormal lip morphology	9442	MED27	OMIM:619286
HP:0000159	Abnormal lip morphology	57178	ZMIZ1	OMIM:618659
HP:0000159	Abnormal lip morphology	9772	TMEM94	OMIM:618316
HP:0000159	Abnormal lip morphology	55770	EXOC2	OMIM:619306
HP:0000159	Abnormal lip morphology	3720	JARID2	OMIM:620098
HP:0000159	Abnormal lip morphology	58499	ZNF462	OMIM:618619
HP:0000159	Abnormal lip morphology	4297	KMT2A	OMIM:605130
HP:0000159	Abnormal lip morphology	10413	YAP1	ORPHA:1473
HP:0000159	Abnormal lip morphology	1147	CHUK	OMIM:619339
HP:0000159	Abnormal lip morphology	1500	CTNND1	ORPHA:1997
HP:0000159	Abnormal lip morphology	999	CDH1	ORPHA:1997
HP:0000159	Abnormal lip morphology	10015	PDCD6IP	OMIM:620047
HP:0000159	Abnormal lip morphology	5626	PROP1	ORPHA:95494
HP:0000159	Abnormal lip morphology	89884	LHX4	ORPHA:95494
HP:0000159	Abnormal lip morphology	3170	FOXA2	ORPHA:95494
HP:0000159	Abnormal lip morphology	5449	POU1F1	ORPHA:95494
HP:0000159	Abnormal lip morphology	8820	HESX1	ORPHA:95494
HP:0000159	Abnormal lip morphology	5015	OTX2	ORPHA:95494
HP:0000159	Abnormal lip morphology	56975	FAM20C	ORPHA:1832
HP:0000159	Abnormal lip morphology	9653	HS2ST1	OMIM:619194
HP:0000159	Abnormal lip morphology	90417	KNSTRN	OMIM:613328
HP:0000159	Abnormal lip morphology	90417	KNSTRN	ORPHA:221139
HP:0000159	Abnormal lip morphology	5293	PIK3CD	OMIM:613328
HP:0000159	Abnormal lip morphology	5293	PIK3CD	ORPHA:221139
HP:0000159	Abnormal lip morphology	51322	WAC	ORPHA:284169
HP:0000159	Abnormal lip morphology	128178	EDARADD	OMIM:224900
HP:0000159	Abnormal lip morphology	10913	EDAR	OMIM:224900
HP:0000159	Abnormal lip morphology	50801	KCNK4	OMIM:618381
HP:0000159	Abnormal lip morphology	57724	EPG5	OMIM:242840
HP:0000159	Abnormal lip morphology	10717	AP4B1	ORPHA:280763
HP:0000159	Abnormal lip morphology	9179	AP4M1	ORPHA:280763
HP:0000159	Abnormal lip morphology	11154	AP4S1	ORPHA:280763
HP:0000159	Abnormal lip morphology	23431	AP4E1	ORPHA:280763
HP:0000159	Abnormal lip morphology	1896	EDA	OMIM:305100
HP:0000159	Abnormal lip morphology	1896	EDA	ORPHA:181
HP:0000159	Abnormal lip morphology	80232	WDR26	ORPHA:513456
HP:0000159	Abnormal lip morphology	60401	EDA2R	ORPHA:181
HP:0000159	Abnormal lip morphology	1387	CREBBP	OMIM:618332
HP:0000159	Abnormal lip morphology	374654	KIF7	OMIM:200990
HP:0000159	Abnormal lip morphology	8294	H4C9	OMIM:619951
HP:0000159	Abnormal lip morphology	9739	SETD1A	OMIM:619056
HP:0000159	Abnormal lip morphology	8260	NAA10	OMIM:300855
HP:0000159	Abnormal lip morphology	8260	NAA10	ORPHA:276432
HP:0000159	Abnormal lip morphology	1788	DNMT3A	OMIM:615879
HP:0000159	Abnormal lip morphology	6929	TCF3	OMIM:619824
HP:0000159	Abnormal lip morphology	2629	GBA1	OMIM:608013
HP:0000159	Abnormal lip morphology	4131	MAP1B	OMIM:618918
HP:0000159	Abnormal lip morphology	6597	SMARCA4	OMIM:614609
HP:0000159	Abnormal lip morphology	9488	PIGB	OMIM:618580
HP:0000159	Abnormal lip morphology	3763	KCNJ6	ORPHA:435628
HP:0000159	Abnormal lip morphology	3763	KCNJ6	OMIM:614098
HP:0000159	Abnormal lip morphology	340533	NEXMIF	OMIM:300912
HP:0000159	Abnormal lip morphology	340533	NEXMIF	ORPHA:85277
HP:0000159	Abnormal lip morphology	10785	WDR4	OMIM:618346
HP:0000159	Abnormal lip morphology	54892	NCAPG2	OMIM:618460
HP:0000159	Abnormal lip morphology	4204	MECP2	ORPHA:1762
HP:0000159	Abnormal lip morphology	4204	MECP2	OMIM:300260
HP:0000159	Abnormal lip morphology	23556	PIGN	ORPHA:2059
HP:0000159	Abnormal lip morphology	23556	PIGN	ORPHA:280633
HP:0000159	Abnormal lip morphology	92335	STRADA	ORPHA:500533
HP:0000159	Abnormal lip morphology	55627	SMPD4	OMIM:618622
HP:0000159	Abnormal lip morphology	4897	NRCAM	OMIM:619833
HP:0000159	Abnormal lip morphology	81857	MED25	OMIM:616449
HP:0000159	Abnormal lip morphology	81857	MED25	ORPHA:464738
HP:0000159	Abnormal lip morphology	65062	TMEM237	OMIM:614424
HP:0000159	Abnormal lip morphology	89970	RSPRY1	OMIM:616723
HP:0000159	Abnormal lip morphology	89970	RSPRY1	ORPHA:457395
HP:0000159	Abnormal lip morphology	781	CACNA2D1	OMIM:620149
HP:0000159	Abnormal lip morphology	55777	MBD5	ORPHA:228402
HP:0000159	Abnormal lip morphology	1436	CSF1R	OMIM:618476
HP:0000159	Abnormal lip morphology	3020	H3-3A	OMIM:619720
HP:0000159	Abnormal lip morphology	51506	UFC1	OMIM:618076
HP:0000159	Abnormal lip morphology	23030	KDM4B	OMIM:619320
HP:0000159	Abnormal lip morphology	283489	CHAMP1	OMIM:616579
HP:0000159	Abnormal lip morphology	2314	FLII	ORPHA:819
HP:0000159	Abnormal lip morphology	23096	IQSEC2	ORPHA:819
HP:0000159	Abnormal lip morphology	10743	RAI1	ORPHA:819
HP:0000159	Abnormal lip morphology	10522	DEAF1	ORPHA:819
HP:0000159	Abnormal lip morphology	10522	DEAF1	OMIM:615828
HP:0000159	Abnormal lip morphology	5077	PAX3	ORPHA:896
HP:0000159	Abnormal lip morphology	5077	PAX3	ORPHA:894
HP:0000159	Abnormal lip morphology	55650	PIGV	OMIM:239300
HP:0000159	Abnormal lip morphology	55650	PIGV	ORPHA:247262
HP:0000159	Abnormal lip morphology	2260	FGFR1	ORPHA:280200
HP:0000159	Abnormal lip morphology	28514	DLL1	ORPHA:280200
HP:0000159	Abnormal lip morphology	2253	FGF8	ORPHA:280200
HP:0000159	Abnormal lip morphology	6496	SIX3	ORPHA:280200
HP:0000159	Abnormal lip morphology	7050	TGIF1	ORPHA:280200
HP:0000159	Abnormal lip morphology	4838	NODAL	ORPHA:280200
HP:0000159	Abnormal lip morphology	6469	SHH	ORPHA:280200
HP:0000159	Abnormal lip morphology	51684	SUFU	ORPHA:280200
HP:0000159	Abnormal lip morphology	7546	ZIC2	ORPHA:280200
HP:0000159	Abnormal lip morphology	2619	GAS1	ORPHA:280200
HP:0000159	Abnormal lip morphology	84976	DISP1	ORPHA:280200
HP:0000159	Abnormal lip morphology	2736	GLI2	ORPHA:280200
HP:0000159	Abnormal lip morphology	8928	FOXH1	ORPHA:280200
HP:0000159	Abnormal lip morphology	5727	PTCH1	ORPHA:280200
HP:0000159	Abnormal lip morphology	50937	CDON	ORPHA:280200
HP:0000159	Abnormal lip morphology	84992	PIGY	ORPHA:247262
HP:0000159	Abnormal lip morphology	84720	PIGO	ORPHA:247262
HP:0000159	Abnormal lip morphology	84720	PIGO	OMIM:614749
HP:0000159	Abnormal lip morphology	93210	PGAP3	ORPHA:247262
HP:0000159	Abnormal lip morphology	93210	PGAP3	OMIM:615716
HP:0000159	Abnormal lip morphology	284098	PIGW	ORPHA:247262
HP:0000159	Abnormal lip morphology	284098	PIGW	OMIM:616025
HP:0000159	Abnormal lip morphology	27315	PGAP2	ORPHA:247262
HP:0000159	Abnormal lip morphology	27315	PGAP2	OMIM:614207
HP:0000159	Abnormal lip morphology	9487	PIGL	ORPHA:247262
HP:0000159	Abnormal lip morphology	129685	TAF8	OMIM:619972
HP:0000159	Abnormal lip morphology	2590	GALNT2	OMIM:618885
HP:0000159	Abnormal lip morphology	5119	CHMP1A	OMIM:614961
HP:0000159	Abnormal lip morphology	9581	PREPL	OMIM:616224
HP:0000159	Abnormal lip morphology	23184	MESD	OMIM:618644
HP:0000159	Abnormal lip morphology	2770	GNAI1	OMIM:619854
HP:0000159	Abnormal lip morphology	91137	SLC25A46	OMIM:616505
HP:0000159	Abnormal lip morphology	93627	TBCK	OMIM:616900
HP:0000159	Abnormal lip morphology	93627	TBCK	ORPHA:488632
HP:0000159	Abnormal lip morphology	26999	CYFIP2	OMIM:618008
HP:0000159	Abnormal lip morphology	64359	NXN	ORPHA:1507
HP:0000159	Abnormal lip morphology	4920	ROR2	ORPHA:1507
HP:0000159	Abnormal lip morphology	4920	ROR2	OMIM:268310
HP:0000159	Abnormal lip morphology	546	ATRX	ORPHA:847
HP:0000159	Abnormal lip morphology	546	ATRX	OMIM:309580
HP:0000159	Abnormal lip morphology	23258	DENND5A	OMIM:617281
HP:0000159	Abnormal lip morphology	10943	MSL3	OMIM:301032
HP:0000159	Abnormal lip morphology	1760	DMPK	ORPHA:589821
HP:0000159	Abnormal lip morphology	4212	MEIS2	OMIM:600987
HP:0000159	Abnormal lip morphology	51305	KCNK9	ORPHA:166108
HP:0000159	Abnormal lip morphology	51305	KCNK9	OMIM:612292
HP:0000159	Abnormal lip morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000159	Abnormal lip morphology	5813	PURA	ORPHA:438216
HP:0000159	Abnormal lip morphology	5813	PURA	OMIM:616158
HP:0000159	Abnormal lip morphology	5813	PURA	ORPHA:314655
HP:0000159	Abnormal lip morphology	79633	FAT4	OMIM:615546
HP:0000159	Abnormal lip morphology	8642	DCHS1	OMIM:601390
HP:0000159	Abnormal lip morphology	2239	GPC4	ORPHA:2662
HP:0000159	Abnormal lip morphology	129563	DIS3L2	OMIM:267000
HP:0000159	Abnormal lip morphology	5518	PPP2R1A	OMIM:616362
HP:0000159	Abnormal lip morphology	5913	RAPSN	OMIM:618388
HP:0000159	Abnormal lip morphology	2290	FOXG1	ORPHA:261144
HP:0000159	Abnormal lip morphology	10367	MICU1	OMIM:615673
HP:0000159	Abnormal lip morphology	51604	PIGT	ORPHA:369837
HP:0000159	Abnormal lip morphology	1182	CLCN3	OMIM:619517
HP:0000159	Abnormal lip morphology	998	CDC42	ORPHA:487796
HP:0000159	Abnormal lip morphology	4329	ALDH6A1	OMIM:614105
HP:0000159	Abnormal lip morphology	3211	HOXB1	OMIM:614744
HP:0000159	Abnormal lip morphology	259232	NALCN	ORPHA:371364
HP:0000159	Abnormal lip morphology	285175	UNC80	ORPHA:371364
HP:0000159	Abnormal lip morphology	8314	BAP1	OMIM:619762
HP:0000159	Abnormal lip morphology	51124	IER3IP1	OMIM:614231
HP:0000159	Abnormal lip morphology	9326	ZNHIT3	OMIM:260565
HP:0000159	Abnormal lip morphology	91875	TTC5	OMIM:619244
HP:0000159	Abnormal lip morphology	6942	TCF20	OMIM:618430
HP:0000159	Abnormal lip morphology	9373	PLAA	ORPHA:521426
HP:0000159	Abnormal lip morphology	9373	PLAA	OMIM:617527
HP:0000159	Abnormal lip morphology	388015	RTL1	ORPHA:96334
HP:0000159	Abnormal lip morphology	8788	DLK1	ORPHA:96334
HP:0000159	Abnormal lip morphology	55384	MEG3	ORPHA:96334
HP:0000159	Abnormal lip morphology	3756	KCNH1	ORPHA:420561
HP:0000159	Abnormal lip morphology	10430	TMEM147	OMIM:620075
HP:0000159	Abnormal lip morphology	2535	FZD2	OMIM:164745
HP:0000159	Abnormal lip morphology	23219	FBXO28	OMIM:619777
HP:0000159	Abnormal lip morphology	6261	RYR1	ORPHA:98905
HP:0000159	Abnormal lip morphology	84081	NSRP1	OMIM:620001
HP:0000159	Abnormal lip morphology	8813	DPM1	ORPHA:79322
HP:0000159	Abnormal lip morphology	2801	GOLGA2	OMIM:620240
HP:0000159	Abnormal lip morphology	129285	PPP1R21	OMIM:619383
HP:0000159	Abnormal lip morphology	11141	IL1RAPL1	OMIM:300143
HP:0000159	Abnormal lip morphology	1917	EEF1A2	OMIM:616393
HP:0000159	Abnormal lip morphology	4633	MYL2	OMIM:619424
HP:0000159	Abnormal lip morphology	29123	ANKRD11	OMIM:148050
HP:0000159	Abnormal lip morphology	5567	PRKACB	OMIM:619143
HP:0000159	Abnormal lip morphology	7043	TGFB3	OMIM:615582
HP:0000159	Abnormal lip morphology	221927	BRAT1	OMIM:618056
HP:0000159	Abnormal lip morphology	4654	MYOD1	OMIM:618975
HP:0000159	Abnormal lip morphology	1642	DDB1	OMIM:619426
HP:0000159	Abnormal lip morphology	9230	RAB11B	OMIM:617807
HP:0000159	Abnormal lip morphology	55906	ZC4H2	OMIM:301041
HP:0000159	Abnormal lip morphology	55906	ZC4H2	OMIM:314580
HP:0000159	Abnormal lip morphology	5594	MAPK1	OMIM:619087
HP:0000159	Abnormal lip morphology	79813	EHMT1	OMIM:610253
HP:0000159	Abnormal lip morphology	23097	CDK19	OMIM:618916
HP:0000159	Abnormal lip morphology	7528	YY1	ORPHA:506358
HP:0000159	Abnormal lip morphology	23314	SATB2	ORPHA:251028
HP:0000159	Abnormal lip morphology	6748	SSR4	ORPHA:370927
HP:0000159	Abnormal lip morphology	65250	CPLANE1	OMIM:277170
HP:0000159	Abnormal lip morphology	153241	CEP120	OMIM:616300
HP:0000159	Abnormal lip morphology	9401	RECQL4	OMIM:218600
HP:0000159	Abnormal lip morphology	170302	ARX	OMIM:300215
HP:0000159	Abnormal lip morphology	23233	EXOC6B	ORPHA:93359
HP:0000159	Abnormal lip morphology	126792	B3GALT6	ORPHA:93359
HP:0000159	Abnormal lip morphology	126792	B3GALT6	OMIM:615349
HP:0000159	Abnormal lip morphology	126792	B3GALT6	OMIM:271640
HP:0000159	Abnormal lip morphology	55343	SLC35C1	ORPHA:99843
HP:0000159	Abnormal lip morphology	11113	CIT	OMIM:617090
HP:0000159	Abnormal lip morphology	51574	LARP7	OMIM:615071
HP:0000159	Abnormal lip morphology	51574	LARP7	ORPHA:319671
HP:0000159	Abnormal lip morphology	54084	TSPEAR	OMIM:618180
HP:0000159	Abnormal lip morphology	23013	SPEN	OMIM:619312
HP:0000159	Abnormal lip morphology	56896	DPYSL5	OMIM:619435
HP:0000159	Abnormal lip morphology	9158	FIBP	ORPHA:500095
HP:0000159	Abnormal lip morphology	9158	FIBP	OMIM:617107
HP:0000159	Abnormal lip morphology	8506	CNTNAP1	OMIM:618186
HP:0000159	Abnormal lip morphology	8473	OGT	OMIM:300997
HP:0000159	Abnormal lip morphology	26128	KIFBP	OMIM:609460
HP:0000159	Abnormal lip morphology	23135	KDM6B	OMIM:618505
HP:0000159	Abnormal lip morphology	673	BRAF	OMIM:115150
HP:0000159	Abnormal lip morphology	673	BRAF	OMIM:613706
HP:0000159	Abnormal lip morphology	5894	RAF1	OMIM:611553
HP:0000159	Abnormal lip morphology	6418	SET	OMIM:618106
HP:0000159	Abnormal lip morphology	53616	ADAM22	OMIM:617933
HP:0000159	Abnormal lip morphology	23363	OBSL1	OMIM:612921
HP:0000159	Abnormal lip morphology	4784	NFIX	ORPHA:447980
HP:0000159	Abnormal lip morphology	2334	AFF2	ORPHA:100973
HP:0000159	Abnormal lip morphology	2334	AFF2	OMIM:309548
HP:0000159	Abnormal lip morphology	57511	COG6	ORPHA:363523
HP:0000159	Abnormal lip morphology	100151683	RNU4ATAC	OMIM:226960
HP:0000159	Abnormal lip morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000159	Abnormal lip morphology	113179	ADAT3	ORPHA:363528
HP:0000159	Abnormal lip morphology	65082	VPS33A	OMIM:617303
HP:0000159	Abnormal lip morphology	65082	VPS33A	ORPHA:505248
HP:0000159	Abnormal lip morphology	526	ATP6V1B2	OMIM:616455
HP:0000159	Abnormal lip morphology	55780	ERMARD	ORPHA:75857
HP:0000159	Abnormal lip morphology	3764	KCNJ8	ORPHA:1517
HP:0000159	Abnormal lip morphology	10060	ABCC9	ORPHA:1517
HP:0000159	Abnormal lip morphology	57231	SNX14	ORPHA:397709
HP:0000159	Abnormal lip morphology	57231	SNX14	OMIM:616354
HP:0000159	Abnormal lip morphology	4763	NF1	OMIM:601321
HP:0000159	Abnormal lip morphology	4763	NF1	ORPHA:363700
HP:0000159	Abnormal lip morphology	5934	RBL2	OMIM:619690
HP:0000159	Abnormal lip morphology	83999	KREMEN1	OMIM:617392
HP:0000159	Abnormal lip morphology	56915	EXOSC5	OMIM:619576
HP:0000159	Abnormal lip morphology	54453	RIN2	OMIM:613075
HP:0000159	Abnormal lip morphology	4998	ORC1	OMIM:224690
HP:0000159	Abnormal lip morphology	4998	ORC1	ORPHA:2554
HP:0000159	Abnormal lip morphology	7021	TFAP2B	ORPHA:46627
HP:0000159	Abnormal lip morphology	5530	PPP3CA	OMIM:617711
HP:0000159	Abnormal lip morphology	3423	IDS	ORPHA:217085
HP:0000159	Abnormal lip morphology	3423	IDS	ORPHA:217093
HP:0000159	Abnormal lip morphology	7965	AIMP2	OMIM:618006
HP:0000159	Abnormal lip morphology	83987	CCDC8	OMIM:614205
HP:0000159	Abnormal lip morphology	8289	ARID1A	OMIM:614607
HP:0000159	Abnormal lip morphology	81620	CDT1	ORPHA:2554
HP:0000159	Abnormal lip morphology	23594	ORC6	ORPHA:2554
HP:0000159	Abnormal lip morphology	23594	ORC6	OMIM:613803
HP:0000159	Abnormal lip morphology	8318	CDC45	ORPHA:2554
HP:0000159	Abnormal lip morphology	990	CDC6	ORPHA:2554
HP:0000159	Abnormal lip morphology	990	CDC6	OMIM:613805
HP:0000159	Abnormal lip morphology	51053	GMNN	ORPHA:2554
HP:0000159	Abnormal lip morphology	51053	GMNN	OMIM:616835
HP:0000159	Abnormal lip morphology	6598	SMARCB1	OMIM:614608
HP:0000159	Abnormal lip morphology	222663	SCUBE3	OMIM:619184
HP:0000159	Abnormal lip morphology	6045	RNF2	OMIM:619460
HP:0000159	Abnormal lip morphology	6792	CDKL5	ORPHA:505652
HP:0000159	Abnormal lip morphology	9509	ADAMTS2	OMIM:225410
HP:0000159	Abnormal lip morphology	22872	SEC31A	OMIM:618651
HP:0000159	Abnormal lip morphology	22808	MRAS	OMIM:618499
HP:0000159	Abnormal lip morphology	54681	P4HTM	OMIM:618493
HP:0000159	Abnormal lip morphology	4174	MCM5	OMIM:617564
HP:0000159	Abnormal lip morphology	26040	SETBP1	OMIM:616078
HP:0000159	Abnormal lip morphology	3188	HNRNPH2	OMIM:300986
HP:0000159	Abnormal lip morphology	4613	MYCN	OMIM:164280
HP:0000159	Abnormal lip morphology	4338	MOCS2	OMIM:252160
HP:0000159	Abnormal lip morphology	200734	SPRED2	OMIM:619745
HP:0000159	Abnormal lip morphology	79644	SRD5A3	OMIM:612713
HP:0000159	Abnormal lip morphology	3425	IDUA	OMIM:607014
HP:0000159	Abnormal lip morphology	3425	IDUA	OMIM:607015
HP:0000159	Abnormal lip morphology	3425	IDUA	ORPHA:93474
HP:0000159	Abnormal lip morphology	3425	IDUA	ORPHA:93473
HP:0000159	Abnormal lip morphology	175	AGA	ORPHA:93
HP:0000159	Abnormal lip morphology	54345	SOX18	OMIM:137940
HP:0000159	Abnormal lip morphology	57003	CCDC47	OMIM:618268
HP:0000159	Abnormal lip morphology	2892	GRIA3	ORPHA:364028
HP:0000159	Abnormal lip morphology	9791	PTDSS1	ORPHA:2658
HP:0000159	Abnormal lip morphology	4337	MOCS1	OMIM:252150
HP:0000159	Abnormal lip morphology	26053	AUTS2	OMIM:615834
HP:0000159	Abnormal lip morphology	3643	INSR	ORPHA:508
HP:0000159	Abnormal lip morphology	285590	SH3PXD2B	ORPHA:137834
HP:0000159	Abnormal lip morphology	85440	DOCK7	ORPHA:411986
HP:0000159	Abnormal lip morphology	85440	DOCK7	OMIM:615859
HP:0000159	Abnormal lip morphology	10283	CWC27	OMIM:250410
HP:0000159	Abnormal lip morphology	6925	TCF4	ORPHA:2896
HP:0000159	Abnormal lip morphology	23630	KCNE5	ORPHA:86818
HP:0000159	Abnormal lip morphology	2182	ACSL4	ORPHA:86818
HP:0000159	Abnormal lip morphology	9949	AMMECR1	ORPHA:86818
HP:0000159	Abnormal lip morphology	7204	TRIO	OMIM:617061
HP:0000159	Abnormal lip morphology	2077	ERF	OMIM:617180
HP:0000159	Abnormal lip morphology	54828	BCAS3	OMIM:619641
HP:0000159	Abnormal lip morphology	8567	MADD	OMIM:619005
HP:0000159	Abnormal lip morphology	7750	ZMYM2	OMIM:619522
HP:0000159	Abnormal lip morphology	27086	FOXP1	ORPHA:391372
HP:0000159	Abnormal lip morphology	56098	PCDHGC4	OMIM:619880
HP:0000159	Abnormal lip morphology	51098	IFT52	OMIM:617102
HP:0000159	Abnormal lip morphology	3832	KIF11	ORPHA:2526
HP:0000159	Abnormal lip morphology	2890	GRIA1	OMIM:619927
HP:0000159	Abnormal lip morphology	8911	CACNA1I	OMIM:620114
HP:0000159	Abnormal lip morphology	2799	GNS	OMIM:252940
HP:0000159	Abnormal lip morphology	2273	FHL1	OMIM:300280
HP:0000159	Abnormal lip morphology	80267	EDEM3	OMIM:619493
HP:0000159	Abnormal lip morphology	4841	NONO	ORPHA:466791
HP:0000159	Abnormal lip morphology	7030	TFE3	OMIM:301066
HP:0000159	Abnormal lip morphology	4668	NAGA	ORPHA:79280
HP:0000159	Abnormal lip morphology	54187	NANS	OMIM:610442
HP:0000159	Abnormal lip morphology	1968	EIF2S3	ORPHA:85282
HP:0000159	Abnormal lip morphology	79791	FBXO31	OMIM:615979
HP:0000159	Abnormal lip morphology	64131	XYLT1	ORPHA:370930
HP:0000159	Abnormal lip morphology	867	CBL	OMIM:613563
HP:0000159	Abnormal lip morphology	55367	PIDD1	OMIM:619827
HP:0000159	Abnormal lip morphology	84148	KAT8	OMIM:618974
HP:0000159	Abnormal lip morphology	2719	GPC3	OMIM:312870
HP:0000159	Abnormal lip morphology	6664	SOX11	OMIM:615866
HP:0000159	Abnormal lip morphology	6654	SOS1	OMIM:610733
HP:0000159	Abnormal lip morphology	8905	AP1S2	OMIM:304340
HP:0000159	Abnormal lip morphology	7189	TRAF6	ORPHA:1810
HP:0000159	Abnormal lip morphology	126695	KDF1	ORPHA:1810
HP:0000159	Abnormal lip morphology	4054	LTBP3	OMIM:617809
HP:0000159	Abnormal lip morphology	51099	ABHD5	ORPHA:98907
HP:0000159	Abnormal lip morphology	59344	ALOXE3	OMIM:606545
HP:0000159	Abnormal lip morphology	404672	GTF2H5	OMIM:616395
HP:0000159	Abnormal lip morphology	204219	CERS3	OMIM:615023
HP:0000159	Abnormal lip morphology	26154	ABCA12	ORPHA:457
HP:0000159	Abnormal lip morphology	4487	MSX1	ORPHA:99798
HP:0000159	Abnormal lip morphology	5083	PAX9	ORPHA:99798
HP:0000159	Abnormal lip morphology	80326	WNT10A	ORPHA:99798
HP:0000159	Abnormal lip morphology	8313	AXIN2	ORPHA:99798
HP:0000159	Abnormal lip morphology	3664	IRF6	ORPHA:99798
HP:0000159	Abnormal lip morphology	4040	LRP6	ORPHA:99798
HP:0000159	Abnormal lip morphology	7039	TGFA	ORPHA:99798
HP:0000159	Abnormal lip morphology	7480	WNT10B	ORPHA:99798
HP:0000159	Abnormal lip morphology	7051	TGM1	ORPHA:100976
HP:0000159	Abnormal lip morphology	1528	CYB5A	ORPHA:621
HP:0000159	Abnormal lip morphology	1727	CYB5R3	ORPHA:621
HP:0000159	Abnormal lip morphology	10804	GJB6	ORPHA:477
HP:0000159	Abnormal lip morphology	2706	GJB2	ORPHA:477
HP:0000159	Abnormal lip morphology	8029	CUBN	ORPHA:35858
HP:0000159	Abnormal lip morphology	81693	AMN	ORPHA:35858
HP:0000159	Abnormal lip morphology	1825	DSC3	OMIM:613102
HP:0000159	Abnormal lip morphology	3872	KRT17	OMIM:167210
HP:0000159	Abnormal lip morphology	3872	KRT17	ORPHA:2309
HP:0000159	Abnormal lip morphology	831	CAST	OMIM:616295
HP:0000159	Abnormal lip morphology	3868	KRT16	ORPHA:2309
HP:0000159	Abnormal lip morphology	3854	KRT6B	ORPHA:2309
HP:0000159	Abnormal lip morphology	6720	SREBF1	OMIM:619016
HP:0000159	Abnormal lip morphology	7512	XPNPEP2	ORPHA:100057
HP:0000159	Abnormal lip morphology	5340	PLG	OMIM:619360
HP:0000159	Abnormal lip morphology	284	ANGPT1	OMIM:619361
HP:0000159	Abnormal lip morphology	26509	MYOF	OMIM:619366
HP:0000159	Abnormal lip morphology	64711	HS3ST6	OMIM:619367
HP:0000159	Abnormal lip morphology	3827	KNG1	OMIM:619363
HP:0000159	Abnormal lip morphology	9630	GNA14	ORPHA:1063
HP:0000159	Abnormal lip morphology	6794	STK11	OMIM:175200
HP:0000159	Abnormal lip morphology	79971	WLS	OMIM:619648
HP:0000159	Abnormal lip morphology	8364	H4C3	OMIM:619758
HP:0000159	Abnormal lip morphology	5317	PKP1	ORPHA:158668
HP:0000159	Abnormal lip morphology	3853	KRT6A	OMIM:615726
HP:0000159	Abnormal lip morphology	6868	ADAM17	ORPHA:294023
HP:0000159	Abnormal lip morphology	1956	EGFR	ORPHA:294023
HP:0000159	Abnormal lip morphology	57822	GRHL3	OMIM:606713
HP:0000159	Abnormal lip morphology	57822	GRHL3	ORPHA:888
HP:0000159	Abnormal lip morphology	8626	TP63	ORPHA:141291
HP:0000159	Abnormal lip morphology	8626	TP63	ORPHA:1072
HP:0000159	Abnormal lip morphology	8085	KMT2D	ORPHA:2322
HP:0000159	Abnormal lip morphology	7403	KDM6A	ORPHA:2322
HP:0000159	Abnormal lip morphology	2138	EYA1	ORPHA:52429
HP:0000159	Abnormal lip morphology	6495	SIX1	ORPHA:52429
HP:0000159	Abnormal lip morphology	9968	MED12	OMIM:301068
HP:0000159	Abnormal lip morphology	4281	MID1	OMIM:300000
HP:0000159	Abnormal lip morphology	10524	KAT5	OMIM:619103
HP:0000159	Abnormal lip morphology	10220	GDF11	OMIM:619122
HP:0000159	Abnormal lip morphology	202018	TAPT1	OMIM:616897
HP:0000159	Abnormal lip morphology	7341	SUMO1	OMIM:613705
HP:0000159	Abnormal lip morphology	4089	SMAD4	ORPHA:2588
HP:0000159	Abnormal lip morphology	5979	RET	ORPHA:1848
HP:0000159	Abnormal lip morphology	8516	ITGA8	ORPHA:1848
HP:0000159	Abnormal lip morphology	26281	FGF20	ORPHA:1848
HP:0000159	Abnormal lip morphology	2674	GFRA1	ORPHA:1848
HP:0000159	Abnormal lip morphology	7484	WNT9B	ORPHA:1848
HP:0000159	Abnormal lip morphology	80000	GREB1L	ORPHA:1848
HP:0000159	Abnormal lip morphology	4683	NBN	ORPHA:647
HP:0000159	Abnormal lip morphology	3239	HOXD13	ORPHA:887
HP:0000159	Abnormal lip morphology	1723	DHODH	ORPHA:246
HP:0000159	Abnormal lip morphology	10262	SF3B4	ORPHA:245
HP:0000159	Abnormal lip morphology	7020	TFAP2A	ORPHA:1297
HP:0000159	Abnormal lip morphology	1748	DLX4	OMIM:616788
HP:0000159	Abnormal lip morphology	55969	RAB5IF	OMIM:616994
HP:0000159	Abnormal lip morphology	340419	RSPO2	OMIM:618021
HP:0000159	Abnormal lip morphology	215	ABCD1	ORPHA:139399
HP:0000159	Abnormal lip morphology	641	BLM	ORPHA:125
HP:0000159	Abnormal lip morphology	55630	SLC39A4	ORPHA:37
HP:0000159	Abnormal lip morphology	51360	MBTPS2	ORPHA:2273
HP:0000159	Abnormal lip morphology	55612	FERMT1	ORPHA:2908
HP:0000159	Abnormal lip morphology	10892	MALT1	OMIM:615468
HP:0000159	Abnormal lip morphology	64065	PERP	OMIM:619208
HP:0000159	Abnormal lip morphology	113235	SLC46A1	ORPHA:90045
HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	51776	MAP3K20	ORPHA:488232
HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	285203	EOGT	OMIM:615297
HP:0010377	Symphalangism affecting the phalanges of the 4th toe	9241	NOG	OMIM:186500
HP:0010378	Triangular shaped phalanges of the 4th toe	51776	MAP3K20	ORPHA:488232
HP:0007321	Deep white matter hypodensities	25939	SAMHD1	OMIM:612952
HP:0007321	Deep white matter hypodensities	84340	GFM2	ORPHA:565624
HP:0007321	Deep white matter hypodensities	11277	TREX1	OMIM:225750
HP:0000161	Median cleft lip	57724	EPG5	OMIM:242840
HP:0000161	Median cleft lip	10735	STAG2	OMIM:301043
HP:0000161	Median cleft lip	10735	STAG2	ORPHA:220386
HP:0000161	Median cleft lip	10735	STAG2	ORPHA:93925
HP:0000161	Median cleft lip	23007	PLCH1	OMIM:619895
HP:0000161	Median cleft lip	23007	PLCH1	ORPHA:93925
HP:0000161	Median cleft lip	4750	NEK1	OMIM:263520
HP:0000161	Median cleft lip	4750	NEK1	ORPHA:2751
HP:0000161	Median cleft lip	81788	NUAK2	OMIM:619452
HP:0000161	Median cleft lip	2260	FGFR1	ORPHA:220386
HP:0000161	Median cleft lip	2260	FGFR1	OMIM:615465
HP:0000161	Median cleft lip	2260	FGFR1	ORPHA:93924
HP:0000161	Median cleft lip	28514	DLL1	ORPHA:220386
HP:0000161	Median cleft lip	28514	DLL1	ORPHA:93926
HP:0000161	Median cleft lip	28514	DLL1	ORPHA:93924
HP:0000161	Median cleft lip	28514	DLL1	ORPHA:93925
HP:0000161	Median cleft lip	2253	FGF8	ORPHA:220386
HP:0000161	Median cleft lip	2253	FGF8	ORPHA:93926
HP:0000161	Median cleft lip	2253	FGF8	ORPHA:93924
HP:0000161	Median cleft lip	2253	FGF8	ORPHA:93925
HP:0000161	Median cleft lip	8243	SMC1A	ORPHA:220386
HP:0000161	Median cleft lip	6496	SIX3	ORPHA:220386
HP:0000161	Median cleft lip	6496	SIX3	ORPHA:93926
HP:0000161	Median cleft lip	6496	SIX3	ORPHA:93924
HP:0000161	Median cleft lip	6496	SIX3	ORPHA:93925
HP:0000161	Median cleft lip	7050	TGIF1	ORPHA:220386
HP:0000161	Median cleft lip	7050	TGIF1	OMIM:142946
HP:0000161	Median cleft lip	7050	TGIF1	ORPHA:93926
HP:0000161	Median cleft lip	7050	TGIF1	ORPHA:93924
HP:0000161	Median cleft lip	7050	TGIF1	ORPHA:93925
HP:0000161	Median cleft lip	4838	NODAL	ORPHA:220386
HP:0000161	Median cleft lip	4838	NODAL	ORPHA:93926
HP:0000161	Median cleft lip	4838	NODAL	ORPHA:93924
HP:0000161	Median cleft lip	4838	NODAL	ORPHA:93925
HP:0000161	Median cleft lip	6469	SHH	ORPHA:220386
HP:0000161	Median cleft lip	6469	SHH	ORPHA:93926
HP:0000161	Median cleft lip	6469	SHH	ORPHA:93924
HP:0000161	Median cleft lip	6469	SHH	ORPHA:93925
HP:0000161	Median cleft lip	7546	ZIC2	ORPHA:220386
HP:0000161	Median cleft lip	7546	ZIC2	ORPHA:93926
HP:0000161	Median cleft lip	7546	ZIC2	ORPHA:93924
HP:0000161	Median cleft lip	7546	ZIC2	ORPHA:93925
HP:0000161	Median cleft lip	6491	STIL	ORPHA:220386
HP:0000161	Median cleft lip	6491	STIL	ORPHA:93926
HP:0000161	Median cleft lip	6491	STIL	ORPHA:93924
HP:0000161	Median cleft lip	6491	STIL	ORPHA:93925
HP:0000161	Median cleft lip	2619	GAS1	ORPHA:220386
HP:0000161	Median cleft lip	2619	GAS1	ORPHA:93926
HP:0000161	Median cleft lip	2619	GAS1	ORPHA:93924
HP:0000161	Median cleft lip	2619	GAS1	ORPHA:93925
HP:0000161	Median cleft lip	84976	DISP1	ORPHA:220386
HP:0000161	Median cleft lip	84976	DISP1	ORPHA:93926
HP:0000161	Median cleft lip	84976	DISP1	ORPHA:93924
HP:0000161	Median cleft lip	84976	DISP1	ORPHA:93925
HP:0000161	Median cleft lip	2736	GLI2	ORPHA:220386
HP:0000161	Median cleft lip	2736	GLI2	ORPHA:93926
HP:0000161	Median cleft lip	2736	GLI2	ORPHA:93924
HP:0000161	Median cleft lip	2736	GLI2	ORPHA:93925
HP:0000161	Median cleft lip	8928	FOXH1	ORPHA:220386
HP:0000161	Median cleft lip	8928	FOXH1	ORPHA:93926
HP:0000161	Median cleft lip	8928	FOXH1	ORPHA:93924
HP:0000161	Median cleft lip	8928	FOXH1	ORPHA:93925
HP:0000161	Median cleft lip	5727	PTCH1	ORPHA:220386
HP:0000161	Median cleft lip	5727	PTCH1	OMIM:610828
HP:0000161	Median cleft lip	5727	PTCH1	ORPHA:93926
HP:0000161	Median cleft lip	5727	PTCH1	ORPHA:93924
HP:0000161	Median cleft lip	5727	PTCH1	ORPHA:93925
HP:0000161	Median cleft lip	50937	CDON	ORPHA:220386
HP:0000161	Median cleft lip	50937	CDON	ORPHA:93926
HP:0000161	Median cleft lip	50937	CDON	ORPHA:93924
HP:0000161	Median cleft lip	50937	CDON	ORPHA:93925
HP:0000161	Median cleft lip	23556	PIGN	ORPHA:2059
HP:0000161	Median cleft lip	6608	SMO	OMIM:241800
HP:0000161	Median cleft lip	57688	ZSWIM6	ORPHA:1827
HP:0000161	Median cleft lip	8481	OFD1	ORPHA:2750
HP:0000161	Median cleft lip	8481	OFD1	OMIM:311200
HP:0000161	Median cleft lip	219844	HYLS1	OMIM:236680
HP:0000161	Median cleft lip	26123	TCTN3	ORPHA:2753
HP:0000161	Median cleft lip	2697	GJA1	ORPHA:2710
HP:0000161	Median cleft lip	257	ALX3	OMIM:136760
HP:0000161	Median cleft lip	51626	DYNC2LI1	OMIM:617088
HP:0000161	Median cleft lip	83479	DDX59	ORPHA:2919
HP:0000161	Median cleft lip	83479	DDX59	OMIM:174300
HP:0000161	Median cleft lip	54101	RIPK4	ORPHA:1234
HP:0000161	Median cleft lip	22858	CILK1	OMIM:612651
HP:0000161	Median cleft lip	27152	INTU	OMIM:617926
HP:0000161	Median cleft lip	5626	PROP1	ORPHA:95494
HP:0000161	Median cleft lip	89884	LHX4	ORPHA:95494
HP:0000161	Median cleft lip	3170	FOXA2	ORPHA:95494
HP:0000161	Median cleft lip	5449	POU1F1	ORPHA:95494
HP:0000161	Median cleft lip	8820	HESX1	ORPHA:95494
HP:0000161	Median cleft lip	5015	OTX2	ORPHA:95494
HP:0000161	Median cleft lip	1857	DVL3	ORPHA:3107
HP:0000161	Median cleft lip	7474	WNT5A	ORPHA:3107
HP:0000161	Median cleft lip	1855	DVL1	ORPHA:3107
HP:0000161	Median cleft lip	2535	FZD2	ORPHA:3107
HP:0000161	Median cleft lip	81031	SLC2A10	ORPHA:3342
HP:0000161	Median cleft lip	56975	FAM20C	ORPHA:1832
HP:0000161	Median cleft lip	79971	WLS	OMIM:619648
HP:0000161	Median cleft lip	8364	H4C3	OMIM:619758
HP:0000162	Glossoptosis	695	BTK	ORPHA:47
HP:0000162	Glossoptosis	4784	NFIX	OMIM:602535
HP:0000162	Glossoptosis	6628	SNRPB	OMIM:117650
HP:0000162	Glossoptosis	6628	SNRPB	ORPHA:1393
HP:0000162	Glossoptosis	340419	RSPO2	OMIM:618021
HP:0000162	Glossoptosis	23483	TGDS	OMIM:616145
HP:0000162	Glossoptosis	23483	TGDS	ORPHA:1388
HP:0000162	Glossoptosis	1909	EDNRA	OMIM:616367
HP:0000162	Glossoptosis	5332	PLCB4	OMIM:614669
HP:0000162	Glossoptosis	5332	PLCB4	ORPHA:137888
HP:0000162	Glossoptosis	347734	SLC35B2	OMIM:620269
HP:0000162	Glossoptosis	1280	COL2A1	ORPHA:94068
HP:0000162	Glossoptosis	1280	COL2A1	ORPHA:166100
HP:0000162	Glossoptosis	1280	COL2A1	ORPHA:93346
HP:0000162	Glossoptosis	1302	COL11A2	ORPHA:1427
HP:0000162	Glossoptosis	1302	COL11A2	ORPHA:166100
HP:0000162	Glossoptosis	27125	AFF4	ORPHA:444077
HP:0000162	Glossoptosis	84172	POLR1B	ORPHA:861
HP:0000162	Glossoptosis	9533	POLR1C	ORPHA:861
HP:0000162	Glossoptosis	51082	POLR1D	ORPHA:861
HP:0000162	Glossoptosis	6949	TCOF1	ORPHA:861
HP:0000162	Glossoptosis	9896	FIG4	ORPHA:3472
HP:0000162	Glossoptosis	55697	VAC14	ORPHA:3472
HP:0000162	Glossoptosis	23114	NFASC	OMIM:618356
HP:0000162	Glossoptosis	860	RUNX2	ORPHA:1452
HP:0000162	Glossoptosis	6662	SOX9	ORPHA:718
HP:0000162	Glossoptosis	9409	PEX16	OMIM:614876
HP:0000162	Glossoptosis	1906	EDN1	ORPHA:137888
HP:0000162	Glossoptosis	1906	EDN1	OMIM:615706
HP:0000162	Glossoptosis	2773	GNAI3	ORPHA:137888
HP:0000162	Glossoptosis	2773	GNAI3	OMIM:602483
HP:0000162	Glossoptosis	389827	MYMK	OMIM:254940
HP:0000162	Glossoptosis	389827	MYMK	ORPHA:1358
HP:0000162	Glossoptosis	9382	COG1	OMIM:611209
HP:0000162	Glossoptosis	1301	COL11A1	ORPHA:440354
HP:0000162	Glossoptosis	2316	FLNA	ORPHA:90652
HP:0000162	Glossoptosis	8241	RBM10	ORPHA:2886
HP:0000162	Glossoptosis	8241	RBM10	OMIM:311900
HP:0000162	Glossoptosis	101929726	MYMX	ORPHA:1358
HP:0000163	Abnormal oral cavity morphology	158	ADSL	OMIM:103050
HP:0000163	Abnormal oral cavity morphology	23241	PACS2	OMIM:618067
HP:0000163	Abnormal oral cavity morphology	10274	STAG1	ORPHA:502434
HP:0000163	Abnormal oral cavity morphology	10274	STAG1	OMIM:617635
HP:0000163	Abnormal oral cavity morphology	54968	TMEM70	ORPHA:1194
HP:0000163	Abnormal oral cavity morphology	9578	CDC42BPB	OMIM:619841
HP:0000163	Abnormal oral cavity morphology	10300	KATNB1	OMIM:616212
HP:0000163	Abnormal oral cavity morphology	55690	PACS1	OMIM:615009
HP:0000163	Abnormal oral cavity morphology	55690	PACS1	ORPHA:329224
HP:0000163	Abnormal oral cavity morphology	10847	SRCAP	ORPHA:2044
HP:0000163	Abnormal oral cavity morphology	10847	SRCAP	OMIM:136140
HP:0000163	Abnormal oral cavity morphology	10847	SRCAP	OMIM:619595
HP:0000163	Abnormal oral cavity morphology	23431	AP4E1	OMIM:613744
HP:0000163	Abnormal oral cavity morphology	23431	AP4E1	ORPHA:280763
HP:0000163	Abnormal oral cavity morphology	3764	KCNJ8	ORPHA:1517
HP:0000163	Abnormal oral cavity morphology	9739	SETD1A	OMIM:619056
HP:0000163	Abnormal oral cavity morphology	815	CAMK2A	OMIM:617798
HP:0000163	Abnormal oral cavity morphology	55623	THUMPD1	OMIM:619989
HP:0000163	Abnormal oral cavity morphology	8493	PPM1D	OMIM:617450
HP:0000163	Abnormal oral cavity morphology	10717	AP4B1	OMIM:614066
HP:0000163	Abnormal oral cavity morphology	10717	AP4B1	ORPHA:280763
HP:0000163	Abnormal oral cavity morphology	11154	AP4S1	OMIM:614067
HP:0000163	Abnormal oral cavity morphology	11154	AP4S1	ORPHA:280763
HP:0000163	Abnormal oral cavity morphology	8363	H4C11	OMIM:619759
HP:0000163	Abnormal oral cavity morphology	10013	HDAC6	ORPHA:163966
HP:0000163	Abnormal oral cavity morphology	116115	ZNF526	OMIM:619877
HP:0000163	Abnormal oral cavity morphology	8364	H4C3	OMIM:619758
HP:0000163	Abnormal oral cavity morphology	9719	ADAMTSL2	OMIM:231050
HP:0000163	Abnormal oral cavity morphology	57459	GATAD2B	ORPHA:363686
HP:0000163	Abnormal oral cavity morphology	57459	GATAD2B	OMIM:615074
HP:0000163	Abnormal oral cavity morphology	6558	SLC12A2	OMIM:619080
HP:0000163	Abnormal oral cavity morphology	253959	RALGAPA1	OMIM:618797
HP:0000163	Abnormal oral cavity morphology	4285	MIPEP	OMIM:617228
HP:0000163	Abnormal oral cavity morphology	7025	NR2F1	OMIM:615722
HP:0000163	Abnormal oral cavity morphology	79971	WLS	OMIM:619648
HP:0000163	Abnormal oral cavity morphology	471	ATIC	OMIM:608688
HP:0000163	Abnormal oral cavity morphology	471	ATIC	ORPHA:250977
HP:0000163	Abnormal oral cavity morphology	5373	PMM2	ORPHA:79318
HP:0000163	Abnormal oral cavity morphology	51574	LARP7	ORPHA:319671
HP:0000163	Abnormal oral cavity morphology	51574	LARP7	OMIM:615071
HP:0000163	Abnormal oral cavity morphology	51322	WAC	ORPHA:466950
HP:0000163	Abnormal oral cavity morphology	5631	PRPS1	OMIM:300661
HP:0000163	Abnormal oral cavity morphology	1642	DDB1	OMIM:619426
HP:0000163	Abnormal oral cavity morphology	9488	PIGB	OMIM:618580
HP:0000163	Abnormal oral cavity morphology	128869	PIGU	OMIM:618590
HP:0000163	Abnormal oral cavity morphology	51412	ACTL6B	OMIM:618470
HP:0000163	Abnormal oral cavity morphology	998	CDC42	OMIM:616737
HP:0000163	Abnormal oral cavity morphology	998	CDC42	ORPHA:487796
HP:0000163	Abnormal oral cavity morphology	23097	CDK19	OMIM:618916
HP:0000163	Abnormal oral cavity morphology	9179	AP4M1	OMIM:612936
HP:0000163	Abnormal oral cavity morphology	9179	AP4M1	ORPHA:280763
HP:0000163	Abnormal oral cavity morphology	4948	OCA2	ORPHA:98794
HP:0000163	Abnormal oral cavity morphology	56915	EXOSC5	OMIM:619576
HP:0000163	Abnormal oral cavity morphology	10265	IRX5	OMIM:611174
HP:0000163	Abnormal oral cavity morphology	201163	FLCN	OMIM:610883
HP:0000163	Abnormal oral cavity morphology	9378	NRXN1	OMIM:614325
HP:0000163	Abnormal oral cavity morphology	9969	MED13	OMIM:618009
HP:0000163	Abnormal oral cavity morphology	91647	ATPAF2	OMIM:604273
HP:0000163	Abnormal oral cavity morphology	80311	KLHL15	OMIM:300982
HP:0000163	Abnormal oral cavity morphology	3188	HNRNPH2	OMIM:300986
HP:0000163	Abnormal oral cavity morphology	5723	PSPH	ORPHA:79350
HP:0000163	Abnormal oral cavity morphology	10771	ZMYND11	OMIM:616083
HP:0000163	Abnormal oral cavity morphology	71	ACTG1	OMIM:614583
HP:0000163	Abnormal oral cavity morphology	71	ACTG1	ORPHA:2995
HP:0000163	Abnormal oral cavity morphology	7737	RNF113A	OMIM:300953
HP:0000163	Abnormal oral cavity morphology	2588	GALNS	OMIM:253000
HP:0000163	Abnormal oral cavity morphology	23040	MYT1L	OMIM:616521
HP:0000163	Abnormal oral cavity morphology	80036	TRPM3	OMIM:620224
HP:0000163	Abnormal oral cavity morphology	374879	ZNF699	OMIM:619488
HP:0000163	Abnormal oral cavity morphology	54870	QRICH1	OMIM:617982
HP:0000163	Abnormal oral cavity morphology	6299	SALL1	ORPHA:857
HP:0000163	Abnormal oral cavity morphology	51339	DACT1	ORPHA:857
HP:0000163	Abnormal oral cavity morphology	6748	SSR4	ORPHA:370927
HP:0000163	Abnormal oral cavity morphology	6748	SSR4	OMIM:300934
HP:0000163	Abnormal oral cavity morphology	51780	KDM3B	OMIM:618846
HP:0000163	Abnormal oral cavity morphology	1663	DDX11	OMIM:613398
HP:0000163	Abnormal oral cavity morphology	9757	KMT2B	OMIM:619934
HP:0000163	Abnormal oral cavity morphology	64802	NMNAT1	OMIM:619260
HP:0000163	Abnormal oral cavity morphology	57194	ATP10A	ORPHA:411515
HP:0000163	Abnormal oral cavity morphology	134218	DNAJC21	OMIM:617052
HP:0000163	Abnormal oral cavity morphology	134218	DNAJC21	ORPHA:811
HP:0000163	Abnormal oral cavity morphology	5970	RELA	OMIM:618287
HP:0000163	Abnormal oral cavity morphology	7128	TNFAIP3	OMIM:616744
HP:0000163	Abnormal oral cavity morphology	4598	MVK	OMIM:260920
HP:0000163	Abnormal oral cavity morphology	6775	STAT4	ORPHA:93552
HP:0000163	Abnormal oral cavity morphology	6775	STAT4	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	6696	SPP1	ORPHA:93552
HP:0000163	Abnormal oral cavity morphology	3654	IRAK1	ORPHA:93552
HP:0000163	Abnormal oral cavity morphology	3575	IL7R	OMIM:608971
HP:0000163	Abnormal oral cavity morphology	3575	IL7R	ORPHA:169154
HP:0000163	Abnormal oral cavity morphology	959	CD40LG	OMIM:308230
HP:0000163	Abnormal oral cavity morphology	64421	DCLRE1C	OMIM:602450
HP:0000163	Abnormal oral cavity morphology	51284	TLR7	OMIM:301080
HP:0000163	Abnormal oral cavity morphology	2672	GFI1	ORPHA:486
HP:0000163	Abnormal oral cavity morphology	6729	SRP54	ORPHA:486
HP:0000163	Abnormal oral cavity morphology	6729	SRP54	ORPHA:811
HP:0000163	Abnormal oral cavity morphology	81570	CLPB	ORPHA:486
HP:0000163	Abnormal oral cavity morphology	6850	SYK	OMIM:619381
HP:0000163	Abnormal oral cavity morphology	2000	ELF4	OMIM:301074
HP:0000163	Abnormal oral cavity morphology	8737	RIPK1	OMIM:618852
HP:0000163	Abnormal oral cavity morphology	939	CD27	OMIM:615122
HP:0000163	Abnormal oral cavity morphology	64127	NOD2	OMIM:617321
HP:0000163	Abnormal oral cavity morphology	79415	CYBC1	OMIM:618935
HP:0000163	Abnormal oral cavity morphology	3587	IL10RA	OMIM:613148
HP:0000163	Abnormal oral cavity morphology	79631	EFL1	ORPHA:811
HP:0000163	Abnormal oral cavity morphology	51119	SBDS	ORPHA:811
HP:0000163	Abnormal oral cavity morphology	149233	IL23R	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	3586	IL10	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	4210	MEFV	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	1230	CCR1	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	355	FAS	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	3592	IL12A	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	3106	HLA-B	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	7099	TLR4	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	3459	IFNGR1	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	720	C4A	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	337867	UBAC2	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	51752	ERAP1	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	8302	KLRC4	ORPHA:117
HP:0000163	Abnormal oral cavity morphology	55670	PEX26	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5824	PEX19	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5828	PEX2	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	8504	PEX3	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	8799	PEX11B	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5830	PEX5	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5193	PEX12	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5194	PEX13	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5195	PEX14	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	5192	PEX10	ORPHA:912
HP:0000163	Abnormal oral cavity morphology	567	B2M	ORPHA:314652
HP:0000163	Abnormal oral cavity morphology	80025	PANK2	ORPHA:216866
HP:0000163	Abnormal oral cavity morphology	11160	ERLIN2	ORPHA:280384
HP:0000163	Abnormal oral cavity morphology	11160	ERLIN2	ORPHA:209951
HP:0000163	Abnormal oral cavity morphology	51422	PRKAG2	OMIM:261740
HP:0000163	Abnormal oral cavity morphology	9158	FIBP	ORPHA:500095
HP:0000163	Abnormal oral cavity morphology	9158	FIBP	OMIM:617107
HP:0000163	Abnormal oral cavity morphology	56623	INPP5E	OMIM:213300
HP:0000163	Abnormal oral cavity morphology	411	ARSB	OMIM:253200
HP:0000163	Abnormal oral cavity morphology	4125	MAN2B1	ORPHA:309282
HP:0000163	Abnormal oral cavity morphology	4125	MAN2B1	ORPHA:309288
HP:0000163	Abnormal oral cavity morphology	4125	MAN2B1	OMIM:248500
HP:0000163	Abnormal oral cavity morphology	7849	PAX8	OMIM:218700
HP:0000163	Abnormal oral cavity morphology	7849	PAX8	ORPHA:95720
HP:0000163	Abnormal oral cavity morphology	7849	PAX8	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	7849	PAX8	ORPHA:95712
HP:0000163	Abnormal oral cavity morphology	3074	HEXB	OMIM:268800
HP:0000163	Abnormal oral cavity morphology	65082	VPS33A	OMIM:617303
HP:0000163	Abnormal oral cavity morphology	65082	VPS33A	ORPHA:505248
HP:0000163	Abnormal oral cavity morphology	79158	GNPTAB	OMIM:252500
HP:0000163	Abnormal oral cavity morphology	3767	KCNJ11	ORPHA:99886
HP:0000163	Abnormal oral cavity morphology	346171	ZFP57	ORPHA:99886
HP:0000163	Abnormal oral cavity morphology	57061	HYMAI	ORPHA:99886
HP:0000163	Abnormal oral cavity morphology	57061	HYMAI	ORPHA:96191
HP:0000163	Abnormal oral cavity morphology	6833	ABCC8	ORPHA:99886
HP:0000163	Abnormal oral cavity morphology	5325	PLAGL1	ORPHA:99886
HP:0000163	Abnormal oral cavity morphology	5325	PLAGL1	ORPHA:96191
HP:0000163	Abnormal oral cavity morphology	7253	TSHR	ORPHA:90673
HP:0000163	Abnormal oral cavity morphology	7253	TSHR	ORPHA:95720
HP:0000163	Abnormal oral cavity morphology	7253	TSHR	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	5172	SLC26A4	ORPHA:95720
HP:0000163	Abnormal oral cavity morphology	5172	SLC26A4	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	7252	TSHB	ORPHA:90674
HP:0000163	Abnormal oral cavity morphology	7252	TSHB	OMIM:275100
HP:0000163	Abnormal oral cavity morphology	10940	POP1	OMIM:617396
HP:0000163	Abnormal oral cavity morphology	405753	DUOXA2	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	6528	SLC5A5	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	6528	SLC5A5	OMIM:274400
HP:0000163	Abnormal oral cavity morphology	7038	TG	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	7173	TPO	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	389434	IYD	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	50506	DUOX2	ORPHA:95716
HP:0000163	Abnormal oral cavity morphology	50506	DUOX2	ORPHA:226316
HP:0000163	Abnormal oral cavity morphology	7080	NKX2-1	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	1482	NKX2-5	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	1482	NKX2-5	ORPHA:95712
HP:0000163	Abnormal oral cavity morphology	2304	FOXE1	ORPHA:95713
HP:0000163	Abnormal oral cavity morphology	60	ACTB	ORPHA:79107
HP:0000163	Abnormal oral cavity morphology	10483	SEC23B	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	6390	SDHB	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	6392	SDHD	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	6391	SDHC	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	205717	USF3	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	100144748	KLLN	ORPHA:201
HP:0000163	Abnormal oral cavity morphology	112812	FDX2	OMIM:251900
HP:0000163	Abnormal oral cavity morphology	4556	MT-TE	ORPHA:254864
HP:0000163	Abnormal oral cavity morphology	55687	TRMU	ORPHA:254864
HP:0000163	Abnormal oral cavity morphology	7067	THRA	OMIM:614450
HP:0000163	Abnormal oral cavity morphology	3070	HELLS	ORPHA:2268
HP:0000163	Abnormal oral cavity morphology	1789	DNMT3B	ORPHA:2268
HP:0000163	Abnormal oral cavity morphology	1789	DNMT3B	OMIM:242860
HP:0000163	Abnormal oral cavity morphology	83879	CDCA7	ORPHA:2268
HP:0000163	Abnormal oral cavity morphology	9841	ZBTB24	ORPHA:2268
HP:0000163	Abnormal oral cavity morphology	6023	RMRP	OMIM:607095
HP:0000163	Abnormal oral cavity morphology	3425	IDUA	OMIM:607014
HP:0000163	Abnormal oral cavity morphology	3425	IDUA	ORPHA:93473
HP:0000163	Abnormal oral cavity morphology	6445	SGCG	ORPHA:353
HP:0000163	Abnormal oral cavity morphology	2290	FOXG1	ORPHA:261144
HP:0000163	Abnormal oral cavity morphology	57003	CCDC47	OMIM:618268
HP:0000163	Abnormal oral cavity morphology	5626	PROP1	ORPHA:226307
HP:0000163	Abnormal oral cavity morphology	89884	LHX4	ORPHA:226307
HP:0000163	Abnormal oral cavity morphology	8022	LHX3	ORPHA:226307
HP:0000163	Abnormal oral cavity morphology	5449	POU1F1	ORPHA:226307
HP:0000163	Abnormal oral cavity morphology	5449	POU1F1	OMIM:613038
HP:0000163	Abnormal oral cavity morphology	8820	HESX1	ORPHA:226307
HP:0000163	Abnormal oral cavity morphology	51692	CPSF3	OMIM:619876
HP:0000163	Abnormal oral cavity morphology	7337	UBE3A	OMIM:105830
HP:0000163	Abnormal oral cavity morphology	29925	GMPPB	ORPHA:370959
HP:0000163	Abnormal oral cavity morphology	4123	MAN2C1	OMIM:619775
HP:0000163	Abnormal oral cavity morphology	54941	RNF125	OMIM:616260
HP:0000163	Abnormal oral cavity morphology	10020	GNE	OMIM:269921
HP:0000163	Abnormal oral cavity morphology	1028	CDKN1C	OMIM:130650
HP:0000163	Abnormal oral cavity morphology	3784	KCNQ1	OMIM:130650
HP:0000163	Abnormal oral cavity morphology	2990	GUSB	OMIM:253220
HP:0000163	Abnormal oral cavity morphology	55679	LIMS2	OMIM:616827
HP:0000163	Abnormal oral cavity morphology	29929	ALG6	ORPHA:79320
HP:0000163	Abnormal oral cavity morphology	5468	PPARG	ORPHA:528
HP:0000163	Abnormal oral cavity morphology	10555	AGPAT2	ORPHA:528
HP:0000163	Abnormal oral cavity morphology	284119	CAVIN1	ORPHA:528
HP:0000163	Abnormal oral cavity morphology	26580	BSCL2	ORPHA:528
HP:0000163	Abnormal oral cavity morphology	2353	FOS	ORPHA:528
HP:0000163	Abnormal oral cavity morphology	3778	KCNMA1	OMIM:618729
HP:0000163	Abnormal oral cavity morphology	79053	ALG8	ORPHA:79325
HP:0000163	Abnormal oral cavity morphology	54453	RIN2	ORPHA:217335
HP:0000163	Abnormal oral cavity morphology	25970	SH2B1	ORPHA:261222
HP:0000163	Abnormal oral cavity morphology	894	CCND2	ORPHA:83473
HP:0000163	Abnormal oral cavity morphology	5296	PIK3R2	ORPHA:83473
HP:0000163	Abnormal oral cavity morphology	10000	AKT3	ORPHA:83473
HP:0000163	Abnormal oral cavity morphology	775	CACNA1C	OMIM:620029
HP:0000163	Abnormal oral cavity morphology	2720	GLB1	OMIM:230600
HP:0000163	Abnormal oral cavity morphology	5077	PAX3	ORPHA:1529
HP:0000163	Abnormal oral cavity morphology	4774	NFIA	OMIM:613735
HP:0000163	Abnormal oral cavity morphology	5447	POR	ORPHA:95699
HP:0000163	Abnormal oral cavity morphology	4312	MMP1	ORPHA:79408
HP:0000163	Abnormal oral cavity morphology	4312	MMP1	OMIM:226600
HP:0000163	Abnormal oral cavity morphology	1294	COL7A1	ORPHA:79408
HP:0000163	Abnormal oral cavity morphology	1294	COL7A1	OMIM:226600
HP:0000163	Abnormal oral cavity morphology	1294	COL7A1	ORPHA:89842
HP:0000163	Abnormal oral cavity morphology	613	BCR	ORPHA:261330
HP:0000163	Abnormal oral cavity morphology	1399	CRKL	ORPHA:261330
HP:0000163	Abnormal oral cavity morphology	5594	MAPK1	ORPHA:261330
HP:0000163	Abnormal oral cavity morphology	89910	UBE3B	OMIM:244450
HP:0000163	Abnormal oral cavity morphology	51506	UFC1	OMIM:618076
HP:0000163	Abnormal oral cavity morphology	4010	LMX1B	ORPHA:495818
HP:0000163	Abnormal oral cavity morphology	6812	STXBP1	ORPHA:495818
HP:0000163	Abnormal oral cavity morphology	341640	FREM2	OMIM:617666
HP:0000163	Abnormal oral cavity morphology	25914	RTTN	OMIM:614833
HP:0000163	Abnormal oral cavity morphology	25914	RTTN	ORPHA:468631
HP:0000163	Abnormal oral cavity morphology	10084	PQBP1	ORPHA:93946
HP:0000163	Abnormal oral cavity morphology	10084	PQBP1	OMIM:309500
HP:0000163	Abnormal oral cavity morphology	6662	SOX9	OMIM:114290
HP:0000163	Abnormal oral cavity morphology	28960	DCPS	OMIM:616459
HP:0000163	Abnormal oral cavity morphology	9723	SEMA3E	ORPHA:138
HP:0000163	Abnormal oral cavity morphology	9382	COG1	OMIM:611209
HP:0000163	Abnormal oral cavity morphology	9382	COG1	ORPHA:263508
HP:0000163	Abnormal oral cavity morphology	1146	CHRNG	OMIM:265000
HP:0000163	Abnormal oral cavity morphology	113189	CHST14	ORPHA:2953
HP:0000163	Abnormal oral cavity morphology	113189	CHST14	OMIM:601776
HP:0000163	Abnormal oral cavity morphology	29940	DSE	ORPHA:2953
HP:0000163	Abnormal oral cavity morphology	29940	DSE	OMIM:615539
HP:0000163	Abnormal oral cavity morphology	55681	SCYL2	OMIM:618766
HP:0000163	Abnormal oral cavity morphology	55699	IARS2	ORPHA:436174
HP:0000163	Abnormal oral cavity morphology	55699	IARS2	OMIM:616007
HP:0000163	Abnormal oral cavity morphology	4604	MYBPC1	OMIM:618524
HP:0000163	Abnormal oral cavity morphology	4604	MYBPC1	ORPHA:1146
HP:0000163	Abnormal oral cavity morphology	857	CAV1	OMIM:606721
HP:0000163	Abnormal oral cavity morphology	64919	BCL11B	OMIM:618092
HP:0000163	Abnormal oral cavity morphology	5424	POLD1	OMIM:615381
HP:0000163	Abnormal oral cavity morphology	4174	MCM5	OMIM:617564
HP:0000163	Abnormal oral cavity morphology	23327	NEDD4L	OMIM:617201
HP:0000163	Abnormal oral cavity morphology	657	BMPR1A	ORPHA:79076
HP:0000163	Abnormal oral cavity morphology	10801	SEPTIN9	OMIM:162100
HP:0000163	Abnormal oral cavity morphology	10801	SEPTIN9	ORPHA:2901
HP:0000163	Abnormal oral cavity morphology	4593	MUSK	OMIM:208150
HP:0000163	Abnormal oral cavity morphology	7862	BRPF1	OMIM:617333
HP:0000163	Abnormal oral cavity morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000163	Abnormal oral cavity morphology	7531	YWHAE	ORPHA:217385
HP:0000163	Abnormal oral cavity morphology	5590	PRKCZ	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	2563	GABRD	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	23013	SPEN	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	8510	MMP23B	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	7798	LUZP1	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	10630	PDPN	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	10277	UBE4B	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	8514	KCNAB2	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	63976	PRDM16	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	54897	CASZ1	ORPHA:1606
HP:0000163	Abnormal oral cavity morphology	6134	RPL10	ORPHA:459070
HP:0000163	Abnormal oral cavity morphology	6134	RPL10	OMIM:300998
HP:0000163	Abnormal oral cavity morphology	3675	ITGA3	OMIM:614748
HP:0000163	Abnormal oral cavity morphology	145258	GSC	OMIM:602471
HP:0000163	Abnormal oral cavity morphology	55027	HEATR3	OMIM:620072
HP:0000163	Abnormal oral cavity morphology	54928	BPNT2	OMIM:614078
HP:0000163	Abnormal oral cavity morphology	7140	TNNT3	OMIM:618435
HP:0000163	Abnormal oral cavity morphology	7140	TNNT3	ORPHA:1146
HP:0000163	Abnormal oral cavity morphology	8642	DCHS1	ORPHA:314679
HP:0000163	Abnormal oral cavity morphology	5832	ALDH18A1	OMIM:219150
HP:0000163	Abnormal oral cavity morphology	84919	PPP1R15B	OMIM:616817
HP:0000163	Abnormal oral cavity morphology	84919	PPP1R15B	ORPHA:391408
HP:0000163	Abnormal oral cavity morphology	91949	COG7	ORPHA:79333
HP:0000163	Abnormal oral cavity morphology	91949	COG7	OMIM:608779
HP:0000163	Abnormal oral cavity morphology	124583	CANT1	OMIM:251450
HP:0000163	Abnormal oral cavity morphology	2556	GABRA3	OMIM:301091
HP:0000163	Abnormal oral cavity morphology	23162	MAPK8IP3	OMIM:618443
HP:0000163	Abnormal oral cavity morphology	4193	MDM2	OMIM:618681
HP:0000163	Abnormal oral cavity morphology	7169	TPM2	ORPHA:1146
HP:0000163	Abnormal oral cavity morphology	7169	TPM2	OMIM:108120
HP:0000163	Abnormal oral cavity morphology	7136	TNNI2	ORPHA:1146
HP:0000163	Abnormal oral cavity morphology	7136	TNNI2	OMIM:601680
HP:0000163	Abnormal oral cavity morphology	7994	KAT6A	OMIM:616268
HP:0000163	Abnormal oral cavity morphology	8621	CDK13	OMIM:617360
HP:0000163	Abnormal oral cavity morphology	55212	BBS7	OMIM:615984
HP:0000163	Abnormal oral cavity morphology	6878	TAF6	OMIM:617126
HP:0000163	Abnormal oral cavity morphology	55217	TMLHE	OMIM:300872
HP:0000163	Abnormal oral cavity morphology	5396	PRRX1	OMIM:202650
HP:0000163	Abnormal oral cavity morphology	5396	PRRX1	ORPHA:990
HP:0000163	Abnormal oral cavity morphology	4703	NEB	OMIM:256030
HP:0000163	Abnormal oral cavity morphology	7473	WNT3	ORPHA:3301
HP:0000163	Abnormal oral cavity morphology	340419	RSPO2	ORPHA:3301
HP:0000163	Abnormal oral cavity morphology	221496	LEMD2	OMIM:619322
HP:0000163	Abnormal oral cavity morphology	650	BMP2	ORPHA:261295
HP:0000163	Abnormal oral cavity morphology	91179	SCARF2	OMIM:600920
HP:0000163	Abnormal oral cavity morphology	10982	MAPRE2	OMIM:616734
HP:0000163	Abnormal oral cavity morphology	56975	FAM20C	OMIM:259775
HP:0000163	Abnormal oral cavity morphology	51132	RLIM	OMIM:300978
HP:0000163	Abnormal oral cavity morphology	22930	RAB3GAP1	OMIM:600118
HP:0000163	Abnormal oral cavity morphology	9325	TRIP4	OMIM:616866
HP:0000163	Abnormal oral cavity morphology	6045	RNF2	OMIM:619460
HP:0000163	Abnormal oral cavity morphology	9496	TBX4	ORPHA:261279
HP:0000163	Abnormal oral cavity morphology	5277	PIGA	OMIM:300868
HP:0000163	Abnormal oral cavity morphology	128637	TBC1D20	OMIM:615663
HP:0000163	Abnormal oral cavity morphology	55210	ATAD3A	OMIM:618810
HP:0000163	Abnormal oral cavity morphology	9244	CRLF1	OMIM:272430
HP:0000163	Abnormal oral cavity morphology	9244	CRLF1	ORPHA:1545
HP:0000163	Abnormal oral cavity morphology	29980	DONSON	OMIM:251230
HP:0000163	Abnormal oral cavity morphology	5015	OTX2	ORPHA:990
HP:0000163	Abnormal oral cavity morphology	80152	CENPT	OMIM:618702
HP:0000163	Abnormal oral cavity morphology	23545	ATP6V0A2	OMIM:219200
HP:0000163	Abnormal oral cavity morphology	203068	TUBB	OMIM:156610
HP:0000163	Abnormal oral cavity morphology	9702	CEP57	OMIM:614114
HP:0000163	Abnormal oral cavity morphology	57570	TRMT5	OMIM:616539
HP:0000163	Abnormal oral cavity morphology	93587	TRMT10A	ORPHA:391408
HP:0000163	Abnormal oral cavity morphology	2186	BPTF	OMIM:617755
HP:0000163	Abnormal oral cavity morphology	203190	LGI3	OMIM:620007
HP:0000163	Abnormal oral cavity morphology	23529	CLCF1	ORPHA:1545
HP:0000163	Abnormal oral cavity morphology	11011	TLK2	OMIM:618050
HP:0000163	Abnormal oral cavity morphology	9469	CHST3	OMIM:245600
HP:0000163	Abnormal oral cavity morphology	26229	B3GAT3	OMIM:245600
HP:0000163	Abnormal oral cavity morphology	55553	SOX6	OMIM:618971
HP:0000163	Abnormal oral cavity morphology	3735	KARS1	OMIM:619147
HP:0000163	Abnormal oral cavity morphology	221692	PHACTR1	OMIM:618298
HP:0000163	Abnormal oral cavity morphology	529	ATP6V1E1	OMIM:617402
HP:0000163	Abnormal oral cavity morphology	5290	PIK3CA	OMIM:615108
HP:0000163	Abnormal oral cavity morphology	3480	IGF1R	OMIM:270450
HP:0000163	Abnormal oral cavity morphology	121340	SP7	OMIM:613849
HP:0000163	Abnormal oral cavity morphology	57724	EPG5	OMIM:242840
HP:0000163	Abnormal oral cavity morphology	81788	NUAK2	OMIM:619452
HP:0000163	Abnormal oral cavity morphology	6608	SMO	OMIM:241800
HP:0000163	Abnormal oral cavity morphology	257	ALX3	OMIM:136760
HP:0000163	Abnormal oral cavity morphology	22858	CILK1	OMIM:612651
HP:0000163	Abnormal oral cavity morphology	27152	INTU	OMIM:617926
HP:0000163	Abnormal oral cavity morphology	695	BTK	ORPHA:47
HP:0000163	Abnormal oral cavity morphology	1909	EDNRA	OMIM:616367
HP:0000163	Abnormal oral cavity morphology	347734	SLC35B2	OMIM:620269
HP:0000163	Abnormal oral cavity morphology	27125	AFF4	ORPHA:444077
HP:0000163	Abnormal oral cavity morphology	23114	NFASC	OMIM:618356
HP:0000163	Abnormal oral cavity morphology	9409	PEX16	OMIM:614876
HP:0000163	Abnormal oral cavity morphology	389827	MYMK	OMIM:254940
HP:0000163	Abnormal oral cavity morphology	389827	MYMK	ORPHA:1358
HP:0000163	Abnormal oral cavity morphology	1493	CTLA4	ORPHA:900
HP:0000163	Abnormal oral cavity morphology	26191	PTPN22	ORPHA:900
HP:0000163	Abnormal oral cavity morphology	3115	HLA-DPB1	ORPHA:900
HP:0000163	Abnormal oral cavity morphology	5657	PRTN3	ORPHA:900
HP:0000163	Abnormal oral cavity morphology	3113	HLA-DPA1	ORPHA:900
HP:0000163	Abnormal oral cavity morphology	79092	CARD14	ORPHA:2897
HP:0000163	Abnormal oral cavity morphology	7421	VDR	ORPHA:93160
HP:0000163	Abnormal oral cavity morphology	4621	MYH3	ORPHA:2053
HP:0000163	Abnormal oral cavity morphology	259232	NALCN	ORPHA:2053
HP:0000163	Abnormal oral cavity morphology	1947	EFNB1	ORPHA:1520
HP:0000163	Abnormal oral cavity morphology	1947	EFNB1	OMIM:304110
HP:0000163	Abnormal oral cavity morphology	3891	KRT85	OMIM:602032
HP:0000163	Abnormal oral cavity morphology	1161	ERCC8	ORPHA:90321
HP:0000163	Abnormal oral cavity morphology	2072	ERCC4	ORPHA:90321
HP:0000163	Abnormal oral cavity morphology	2072	ERCC4	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	2074	ERCC6	ORPHA:90321
HP:0000163	Abnormal oral cavity morphology	29072	SETD2	ORPHA:821
HP:0000163	Abnormal oral cavity morphology	249	ALPL	OMIM:241500
HP:0000163	Abnormal oral cavity morphology	121391	KRT74	OMIM:613981
HP:0000163	Abnormal oral cavity morphology	121391	KRT74	ORPHA:90368
HP:0000163	Abnormal oral cavity morphology	121391	KRT74	OMIM:614929
HP:0000163	Abnormal oral cavity morphology	5818	NECTIN1	ORPHA:3253
HP:0000163	Abnormal oral cavity morphology	7015	TERT	OMIM:613989
HP:0000163	Abnormal oral cavity morphology	7015	TERT	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	112752	IFT43	ORPHA:1515
HP:0000163	Abnormal oral cavity morphology	51098	IFT52	ORPHA:1515
HP:0000163	Abnormal oral cavity morphology	55764	IFT122	ORPHA:1515
HP:0000163	Abnormal oral cavity morphology	57728	WDR19	ORPHA:1515
HP:0000163	Abnormal oral cavity morphology	7298	TYMS	OMIM:620040
HP:0000163	Abnormal oral cavity morphology	7298	TYMS	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	54345	SOX18	OMIM:607823
HP:0000163	Abnormal oral cavity morphology	191	AHCY	OMIM:613752
HP:0000163	Abnormal oral cavity morphology	191	AHCY	ORPHA:88618
HP:0000163	Abnormal oral cavity morphology	5339	PLEC	ORPHA:79401
HP:0000163	Abnormal oral cavity morphology	81848	SPRY4	OMIM:615266
HP:0000163	Abnormal oral cavity morphology	81848	SPRY4	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	1848	DUSP6	OMIM:615269
HP:0000163	Abnormal oral cavity morphology	1848	DUSP6	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	54756	IL17RD	OMIM:615267
HP:0000163	Abnormal oral cavity morphology	23461	ABCA5	ORPHA:2026
HP:0000163	Abnormal oral cavity morphology	4853	NOTCH2	ORPHA:955
HP:0000163	Abnormal oral cavity morphology	4053	LTBP2	OMIM:251750
HP:0000163	Abnormal oral cavity morphology	3981	LIG4	ORPHA:235
HP:0000163	Abnormal oral cavity morphology	54888	NSUN2	ORPHA:235
HP:0000163	Abnormal oral cavity morphology	10804	GJB6	ORPHA:477
HP:0000163	Abnormal oral cavity morphology	10804	GJB6	OMIM:129500
HP:0000163	Abnormal oral cavity morphology	2706	GJB2	ORPHA:477
HP:0000163	Abnormal oral cavity morphology	3043	HBB	ORPHA:231214
HP:0000163	Abnormal oral cavity morphology	3043	HBB	ORPHA:231226
HP:0000163	Abnormal oral cavity morphology	6774	STAT3	OMIM:615952
HP:0000163	Abnormal oral cavity morphology	6774	STAT3	ORPHA:2314
HP:0000163	Abnormal oral cavity morphology	1041	CDSN	ORPHA:90368
HP:0000163	Abnormal oral cavity morphology	1041	CDSN	OMIM:146520
HP:0000163	Abnormal oral cavity morphology	4803	NGF	ORPHA:64752
HP:0000163	Abnormal oral cavity morphology	5189	PEX1	ORPHA:3220
HP:0000163	Abnormal oral cavity morphology	5190	PEX6	ORPHA:3220
HP:0000163	Abnormal oral cavity morphology	79228	THOC6	ORPHA:363444
HP:0000163	Abnormal oral cavity morphology	9533	POLR1C	OMIM:616494
HP:0000163	Abnormal oral cavity morphology	9533	POLR1C	ORPHA:861
HP:0000163	Abnormal oral cavity morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000163	Abnormal oral cavity morphology	11128	POLR3A	ORPHA:3455
HP:0000163	Abnormal oral cavity morphology	11107	PRDM5	ORPHA:90354
HP:0000163	Abnormal oral cavity morphology	84627	ZNF469	ORPHA:90354
HP:0000163	Abnormal oral cavity morphology	3481	IGF2	ORPHA:2128
HP:0000163	Abnormal oral cavity morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0000163	Abnormal oral cavity morphology	283120	H19	ORPHA:2128
HP:0000163	Abnormal oral cavity morphology	5308	PITX2	OMIM:137600
HP:0000163	Abnormal oral cavity morphology	3977	LIFR	ORPHA:3206
HP:0000163	Abnormal oral cavity morphology	3930	LBR	OMIM:169400
HP:0000163	Abnormal oral cavity morphology	1832	DSP	OMIM:612908
HP:0000163	Abnormal oral cavity morphology	1186	CLCN7	ORPHA:53
HP:0000163	Abnormal oral cavity morphology	1186	CLCN7	ORPHA:210110
HP:0000163	Abnormal oral cavity morphology	60529	ALX4	ORPHA:228390
HP:0000163	Abnormal oral cavity morphology	585	BBS4	OMIM:615982
HP:0000163	Abnormal oral cavity morphology	4212	MEIS2	ORPHA:261190
HP:0000163	Abnormal oral cavity morphology	2245	FGD1	ORPHA:915
HP:0000163	Abnormal oral cavity morphology	4204	MECP2	OMIM:312750
HP:0000163	Abnormal oral cavity morphology	7189	TRAF6	ORPHA:1810
HP:0000163	Abnormal oral cavity morphology	126695	KDF1	ORPHA:1810
HP:0000163	Abnormal oral cavity morphology	10913	EDAR	ORPHA:1810
HP:0000163	Abnormal oral cavity morphology	2068	ERCC2	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	7507	XPA	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	2071	ERCC3	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	7508	XPC	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	1643	DDB2	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	2073	ERCC5	ORPHA:910
HP:0000163	Abnormal oral cavity morphology	64132	XYLT2	OMIM:605822
HP:0000163	Abnormal oral cavity morphology	128674	PROKR2	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	60675	PROK2	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	55636	CHD7	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	6870	TACR3	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	26012	NSMF	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	55717	WDR11	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	9394	HS6ST1	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	2796	GNRH1	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	2798	GNRHR	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	84634	KISS1R	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	6866	TAC3	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	8822	FGF17	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	3814	KISS1	ORPHA:432
HP:0000163	Abnormal oral cavity morphology	147495	APCDD1	OMIM:605389
HP:0000163	Abnormal oral cavity morphology	2335	FN1	ORPHA:93315
HP:0000163	Abnormal oral cavity morphology	9150	CTDP1	OMIM:604168
HP:0000163	Abnormal oral cavity morphology	113179	ADAT3	ORPHA:363528
HP:0000163	Abnormal oral cavity morphology	23586	RIGI	OMIM:616298
HP:0000163	Abnormal oral cavity morphology	9342	SNAP29	ORPHA:66631
HP:0000163	Abnormal oral cavity morphology	6144	RPL21	OMIM:615885
HP:0000163	Abnormal oral cavity morphology	55784	MCTP2	ORPHA:1596
HP:0000163	Abnormal oral cavity morphology	1825	DSC3	OMIM:613102
HP:0000163	Abnormal oral cavity morphology	162514	TRPV3	ORPHA:659
HP:0000163	Abnormal oral cavity morphology	10651	MTX2	ORPHA:90153
HP:0000163	Abnormal oral cavity morphology	51114	ZDHHC9	ORPHA:776
HP:0000163	Abnormal oral cavity morphology	65109	UPF3B	ORPHA:776
HP:0000163	Abnormal oral cavity morphology	147409	DSG4	ORPHA:573
HP:0000163	Abnormal oral cavity morphology	3892	KRT86	ORPHA:573
HP:0000163	Abnormal oral cavity morphology	3889	KRT83	ORPHA:573
HP:0000163	Abnormal oral cavity morphology	3889	KRT83	OMIM:617756
HP:0000163	Abnormal oral cavity morphology	3887	KRT81	ORPHA:573
HP:0000163	Abnormal oral cavity morphology	55603	TENT5A	OMIM:617952
HP:0000163	Abnormal oral cavity morphology	92344	GORAB	OMIM:231070
HP:0000163	Abnormal oral cavity morphology	1312	COMT	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	221037	JMJD1C	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	2812	GP1BB	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	6239	RREB1	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	7290	HIRA	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	9632	SEC24C	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	7353	UFD1	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	421	ARVCF	ORPHA:567
HP:0000163	Abnormal oral cavity morphology	197131	UBR1	ORPHA:2315
HP:0000163	Abnormal oral cavity morphology	1001	CDH3	OMIM:601553
HP:0000163	Abnormal oral cavity morphology	7703	PCGF2	OMIM:618371
HP:0000163	Abnormal oral cavity morphology	8985	PLOD3	OMIM:612394
HP:0000163	Abnormal oral cavity morphology	151516	ASPRV1	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	242	ALOX12B	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	126410	CYP4F22	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	6820	SULT2B1	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	26154	ABCA12	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	643418	LIPN	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	59344	ALOXE3	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	348938	NIPAL4	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	121214	SDR9C7	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	7051	TGM1	ORPHA:313
HP:0000163	Abnormal oral cavity morphology	1075	CTSC	ORPHA:678
HP:0000163	Abnormal oral cavity morphology	80185	TTI2	ORPHA:391307
HP:0000163	Abnormal oral cavity morphology	10312	TCIRG1	ORPHA:210110
HP:0000163	Abnormal oral cavity morphology	9842	PLEKHM1	ORPHA:210110
HP:0000163	Abnormal oral cavity morphology	200879	LIPH	OMIM:604379
HP:0000163	Abnormal oral cavity morphology	29957	SLC25A24	ORPHA:2095
HP:0000163	Abnormal oral cavity morphology	64840	PORCN	ORPHA:2092
HP:0000163	Abnormal oral cavity morphology	79574	EPS8L3	OMIM:612841
HP:0000163	Abnormal oral cavity morphology	4796	TONSL	OMIM:271510
HP:0000163	Abnormal oral cavity morphology	189	AGXT	ORPHA:93598
HP:0000163	Abnormal oral cavity morphology	84172	POLR1B	ORPHA:861
HP:0000163	Abnormal oral cavity morphology	51082	POLR1D	ORPHA:861
HP:0000163	Abnormal oral cavity morphology	79983	POF1B	OMIM:300604
HP:0000163	Abnormal oral cavity morphology	7204	TRIO	ORPHA:476126
HP:0000163	Abnormal oral cavity morphology	10161	LPAR6	OMIM:278150
HP:0000163	Abnormal oral cavity morphology	60681	FKBP10	OMIM:259450
HP:0000163	Abnormal oral cavity morphology	4014	LORICRIN	OMIM:604117
HP:0000163	Abnormal oral cavity morphology	4094	MAF	OMIM:601088
HP:0000163	Abnormal oral cavity morphology	84905	ZNF341	OMIM:618282
HP:0000163	Abnormal oral cavity morphology	5295	PIK3R1	ORPHA:3163
HP:0000163	Abnormal oral cavity morphology	89970	RSPRY1	ORPHA:457395
HP:0000163	Abnormal oral cavity morphology	23592	LEMD3	ORPHA:1306
HP:0000163	Abnormal oral cavity morphology	5286	PIK3C2A	ORPHA:557003
HP:0000163	Abnormal oral cavity morphology	23309	SIN3B	ORPHA:500166
HP:0000163	Abnormal oral cavity morphology	65057	ACD	OMIM:616553
HP:0000163	Abnormal oral cavity morphology	80169	CTC1	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	26277	TINF2	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	55651	NHP2	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	79650	USB1	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	55135	WRAP53	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	51750	RTEL1	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	4869	NPM1	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	7012	TERC	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	55505	NOP10	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	5073	PARN	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	1736	DKC1	ORPHA:1775
HP:0000163	Abnormal oral cavity morphology	157657	CFAP418	OMIM:617406
HP:0000163	Abnormal oral cavity morphology	3229	HOXC13	OMIM:614931
HP:0000163	Abnormal oral cavity morphology	51002	TPRKB	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	84942	WDR73	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	55644	OSGEP	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	57122	NUP107	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	10785	WDR4	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	55746	NUP133	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	112858	TP53RK	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	8270	LAGE3	ORPHA:2065
HP:0000163	Abnormal oral cavity morphology	3852	KRT5	ORPHA:79397
HP:0000163	Abnormal oral cavity morphology	3852	KRT5	ORPHA:79399
HP:0000163	Abnormal oral cavity morphology	25886	POC1A	OMIM:614813
HP:0000163	Abnormal oral cavity morphology	4322	MMP13	ORPHA:2501
HP:0000163	Abnormal oral cavity morphology	64682	ANAPC1	ORPHA:221008
HP:0000163	Abnormal oral cavity morphology	847	CAT	ORPHA:926
HP:0000163	Abnormal oral cavity morphology	7852	CXCR4	ORPHA:51636
HP:0000163	Abnormal oral cavity morphology	4221	MEN1	ORPHA:652
HP:0000163	Abnormal oral cavity morphology	1027	CDKN1B	ORPHA:652
HP:0000163	Abnormal oral cavity morphology	1026	CDKN1A	ORPHA:652
HP:0000163	Abnormal oral cavity morphology	1030	CDKN2B	ORPHA:652
HP:0000163	Abnormal oral cavity morphology	1031	CDKN2C	ORPHA:652
HP:0000163	Abnormal oral cavity morphology	5159	PDGFRB	ORPHA:2591
HP:0000163	Abnormal oral cavity morphology	118429	ANTXR2	OMIM:228600
HP:0000163	Abnormal oral cavity morphology	118429	ANTXR2	ORPHA:2028
HP:0000163	Abnormal oral cavity morphology	7249	TSC2	OMIM:613254
HP:0000163	Abnormal oral cavity morphology	3458	IFNG	OMIM:613254
HP:0000163	Abnormal oral cavity morphology	5978	REST	ORPHA:2024
HP:0000163	Abnormal oral cavity morphology	5978	REST	OMIM:617626
HP:0000163	Abnormal oral cavity morphology	7248	TSC1	OMIM:191100
HP:0000163	Abnormal oral cavity morphology	84823	LMNB2	OMIM:616540
HP:0000163	Abnormal oral cavity morphology	5932	RBBP8	OMIM:606744
HP:0000163	Abnormal oral cavity morphology	4591	TRIM37	OMIM:253250
HP:0000163	Abnormal oral cavity morphology	123606	NIPA1	ORPHA:261183
HP:0000163	Abnormal oral cavity morphology	7283	TUBG1	ORPHA:261183
HP:0000163	Abnormal oral cavity morphology	81614	NIPA2	ORPHA:261183
HP:0000163	Abnormal oral cavity morphology	1303	COL12A1	ORPHA:75840
HP:0000163	Abnormal oral cavity morphology	1291	COL6A1	ORPHA:75840
HP:0000163	Abnormal oral cavity morphology	1292	COL6A2	ORPHA:75840
HP:0000163	Abnormal oral cavity morphology	1293	COL6A3	ORPHA:75840
HP:0000163	Abnormal oral cavity morphology	114548	NLRP3	ORPHA:575
HP:0000163	Abnormal oral cavity morphology	538	ATP7A	ORPHA:565
HP:0000163	Abnormal oral cavity morphology	2313	FLI1	ORPHA:2308
HP:0000163	Abnormal oral cavity morphology	10617	STAMBP	OMIM:614261
HP:0000163	Abnormal oral cavity morphology	91452	ACBD5	OMIM:618863
HP:0000163	Abnormal oral cavity morphology	1836	SLC26A2	ORPHA:56304
HP:0000163	Abnormal oral cavity morphology	1836	SLC26A2	ORPHA:628
HP:0000163	Abnormal oral cavity morphology	1836	SLC26A2	OMIM:256050
HP:0000163	Abnormal oral cavity morphology	1836	SLC26A2	ORPHA:93307
HP:0000163	Abnormal oral cavity morphology	1836	SLC26A2	OMIM:222600
HP:0000163	Abnormal oral cavity morphology	267010	RNU12	OMIM:603116
HP:0000163	Abnormal oral cavity morphology	1739	DLG1	ORPHA:199306
HP:0000163	Abnormal oral cavity morphology	999	CDH1	ORPHA:199306
HP:0000163	Abnormal oral cavity morphology	999	CDH1	OMIM:137215
HP:0000163	Abnormal oral cavity morphology	5156	PDGFRA	ORPHA:199306
HP:0000163	Abnormal oral cavity morphology	9411	ARHGAP29	ORPHA:199306
HP:0000163	Abnormal oral cavity morphology	1748	DLX4	ORPHA:199306
HP:0000163	Abnormal oral cavity morphology	1723	DHODH	OMIM:263750
HP:0000163	Abnormal oral cavity morphology	1723	DHODH	ORPHA:246
HP:0000163	Abnormal oral cavity morphology	2782	GNB1	ORPHA:488613
HP:0000163	Abnormal oral cavity morphology	2782	GNB1	OMIM:616973
HP:0000163	Abnormal oral cavity morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000163	Abnormal oral cavity morphology	23322	RPGRIP1L	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	23322	RPGRIP1L	OMIM:611561
HP:0000163	Abnormal oral cavity morphology	4867	NPHP1	ORPHA:220497
HP:0000163	Abnormal oral cavity morphology	84466	MEGF10	OMIM:614399
HP:0000163	Abnormal oral cavity morphology	126792	B3GALT6	ORPHA:2725
HP:0000163	Abnormal oral cavity morphology	126792	B3GALT6	OMIM:271640
HP:0000163	Abnormal oral cavity morphology	126792	B3GALT6	ORPHA:93359
HP:0000163	Abnormal oral cavity morphology	126792	B3GALT6	OMIM:615349
HP:0000163	Abnormal oral cavity morphology	72	ACTG2	ORPHA:2604
HP:0000163	Abnormal oral cavity morphology	95681	CEP41	ORPHA:220493
HP:0000163	Abnormal oral cavity morphology	51684	SUFU	ORPHA:280200
HP:0000163	Abnormal oral cavity morphology	10584	COLEC10	OMIM:248340
HP:0000163	Abnormal oral cavity morphology	25885	POLR1A	OMIM:616462
HP:0000163	Abnormal oral cavity morphology	5191	PEX7	OMIM:215100
HP:0000163	Abnormal oral cavity morphology	26057	ANKRD17	OMIM:619504
HP:0000163	Abnormal oral cavity morphology	57167	SALL4	ORPHA:233
HP:0000163	Abnormal oral cavity morphology	9935	MAFB	ORPHA:233
HP:0000163	Abnormal oral cavity morphology	1123	CHN1	ORPHA:233
HP:0000163	Abnormal oral cavity morphology	79659	DYNC2H1	OMIM:613091
HP:0000163	Abnormal oral cavity morphology	1349	COX7B	OMIM:309801
HP:0000163	Abnormal oral cavity morphology	3052	HCCS	OMIM:309801
HP:0000163	Abnormal oral cavity morphology	54539	NDUFB11	OMIM:309801
HP:0000163	Abnormal oral cavity morphology	8516	ITGA8	ORPHA:1848
HP:0000163	Abnormal oral cavity morphology	26281	FGF20	ORPHA:1848
HP:0000163	Abnormal oral cavity morphology	2674	GFRA1	ORPHA:1848
HP:0000163	Abnormal oral cavity morphology	7484	WNT9B	ORPHA:1848
HP:0000163	Abnormal oral cavity morphology	80000	GREB1L	ORPHA:1848
HP:0000163	Abnormal oral cavity morphology	5925	RB1	OMIM:180200
HP:0000163	Abnormal oral cavity morphology	147912	SIX5	ORPHA:107
HP:0000163	Abnormal oral cavity morphology	1749	DLX5	OMIM:183600
HP:0000163	Abnormal oral cavity morphology	55120	FANCL	OMIM:614083
HP:0000163	Abnormal oral cavity morphology	55120	FANCL	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	9319	TRIP13	OMIM:617598
HP:0000163	Abnormal oral cavity morphology	9319	TRIP13	ORPHA:1052
HP:0000163	Abnormal oral cavity morphology	25836	NIPBL	OMIM:122470
HP:0000163	Abnormal oral cavity morphology	25836	NIPBL	ORPHA:199
HP:0000163	Abnormal oral cavity morphology	2303	FOXC2	ORPHA:33001
HP:0000163	Abnormal oral cavity morphology	2303	FOXC2	OMIM:153400
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	OMIM:272460
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	ORPHA:503
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	ORPHA:1190
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	OMIM:108721
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	OMIM:108720
HP:0000163	Abnormal oral cavity morphology	2317	FLNB	OMIM:150250
HP:0000163	Abnormal oral cavity morphology	54361	WNT4	OMIM:611812
HP:0000163	Abnormal oral cavity morphology	54361	WNT4	ORPHA:247768
HP:0000163	Abnormal oral cavity morphology	10262	SF3B4	ORPHA:245
HP:0000163	Abnormal oral cavity morphology	10262	SF3B4	OMIM:154400
HP:0000163	Abnormal oral cavity morphology	8295	TRRAP	OMIM:618454
HP:0000163	Abnormal oral cavity morphology	29968	PSAT1	OMIM:616038
HP:0000163	Abnormal oral cavity morphology	3736	KCNA1	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	9091	PIGQ	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	2775	GNAO1	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	81603	TRIM8	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	2902	GRIN1	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	79751	SLC25A22	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	150094	SIK1	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	8573	CASK	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	23312	DMXL2	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	2917	GRM7	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	11284	PNKP	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	6326	SCN2A	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	51227	PIGP	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	6324	SCN1B	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	4761	NEUROD2	ORPHA:1934
HP:0000163	Abnormal oral cavity morphology	1801	DPH1	ORPHA:459061
HP:0000163	Abnormal oral cavity morphology	10371	SEMA3A	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	23767	FLRT3	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	79625	NDNF	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	389549	FEZF1	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	1630	DCC	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	3730	ANOS1	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	6663	SOX10	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	285025	CCDC141	ORPHA:478
HP:0000163	Abnormal oral cavity morphology	23384	SPECC1L	OMIM:600251
HP:0000163	Abnormal oral cavity morphology	55869	HDAC8	OMIM:300882
HP:0000163	Abnormal oral cavity morphology	55869	HDAC8	ORPHA:199
HP:0000163	Abnormal oral cavity morphology	26128	KIFBP	ORPHA:66629
HP:0000163	Abnormal oral cavity morphology	9126	SMC3	OMIM:610759
HP:0000163	Abnormal oral cavity morphology	9126	SMC3	ORPHA:199
HP:0000163	Abnormal oral cavity morphology	84068	SLC10A7	OMIM:618363
HP:0000163	Abnormal oral cavity morphology	50619	DEF6	OMIM:619573
HP:0000163	Abnormal oral cavity morphology	340665	CYP26C1	ORPHA:398189
HP:0000163	Abnormal oral cavity morphology	84314	TMEM107	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	79867	TCTN2	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	79867	TCTN2	OMIM:613885
HP:0000163	Abnormal oral cavity morphology	79600	TCTN1	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	57096	RPGRIP1	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	79848	CSPP1	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	80184	CEP290	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	80184	CEP290	OMIM:611134
HP:0000163	Abnormal oral cavity morphology	80184	CEP290	OMIM:610188
HP:0000163	Abnormal oral cavity morphology	57545	CC2D2A	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	57545	CC2D2A	OMIM:612284
HP:0000163	Abnormal oral cavity morphology	91147	TMEM67	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	91147	TMEM67	OMIM:607361
HP:0000163	Abnormal oral cavity morphology	79770	TXNDC15	ORPHA:564
HP:0000163	Abnormal oral cavity morphology	372	ARCN1	OMIM:617164
HP:0000163	Abnormal oral cavity morphology	8883	NAE1	OMIM:620210
HP:0000163	Abnormal oral cavity morphology	4927	NUP88	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	7846	TUBA1A	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	4654	MYOD1	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	4654	MYOD1	OMIM:618975
HP:0000163	Abnormal oral cavity morphology	5913	RAPSN	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	5913	RAPSN	OMIM:618388
HP:0000163	Abnormal oral cavity morphology	6572	SLC18A3	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	285489	DOK7	ORPHA:994
HP:0000163	Abnormal oral cavity morphology	5530	PPP3CA	OMIM:618265
HP:0000163	Abnormal oral cavity morphology	57514	ARHGAP31	OMIM:100300
HP:0000163	Abnormal oral cavity morphology	2254	FGF9	OMIM:612961
HP:0000163	Abnormal oral cavity morphology	10413	YAP1	OMIM:120433
HP:0000163	Abnormal oral cavity morphology	10653	SPINT2	OMIM:270420
HP:0000163	Abnormal oral cavity morphology	2571	GAD1	OMIM:619124
HP:0000163	Abnormal oral cavity morphology	55640	FLVCR2	OMIM:225790
HP:0000163	Abnormal oral cavity morphology	90416	CCDC32	OMIM:619123
HP:0000163	Abnormal oral cavity morphology	23169	SLC35D1	OMIM:269250
HP:0000163	Abnormal oral cavity morphology	23169	SLC35D1	ORPHA:3144
HP:0000163	Abnormal oral cavity morphology	22995	CEP152	OMIM:613823
HP:0000163	Abnormal oral cavity morphology	4222	MEOX1	OMIM:214300
HP:0000163	Abnormal oral cavity morphology	4222	MEOX1	ORPHA:2345
HP:0000163	Abnormal oral cavity morphology	80267	EDEM3	OMIM:619493
HP:0000163	Abnormal oral cavity morphology	1984	EIF5A	OMIM:619376
HP:0000163	Abnormal oral cavity morphology	168667	BMPER	ORPHA:66637
HP:0000163	Abnormal oral cavity morphology	168667	BMPER	OMIM:608022
HP:0000163	Abnormal oral cavity morphology	124454	EARS2	OMIM:614924
HP:0000163	Abnormal oral cavity morphology	3239	HOXD13	ORPHA:887
HP:0000163	Abnormal oral cavity morphology	9897	WASHC5	ORPHA:7
HP:0000163	Abnormal oral cavity morphology	9897	WASHC5	OMIM:220210
HP:0000163	Abnormal oral cavity morphology	28952	CCDC22	ORPHA:7
HP:0000163	Abnormal oral cavity morphology	6913	TBX15	OMIM:260660
HP:0000163	Abnormal oral cavity morphology	6657	SOX2	ORPHA:3157
HP:0000163	Abnormal oral cavity morphology	6658	SOX3	ORPHA:3157
HP:0000163	Abnormal oral cavity morphology	10682	EBP	ORPHA:401973
HP:0000163	Abnormal oral cavity morphology	2294	FOXF1	OMIM:265380
HP:0000163	Abnormal oral cavity morphology	6399	TRAPPC2	ORPHA:93284
HP:0000163	Abnormal oral cavity morphology	3728	JUP	ORPHA:158687
HP:0000163	Abnormal oral cavity morphology	3636	INPPL1	ORPHA:3144
HP:0000163	Abnormal oral cavity morphology	10992	SF3B2	OMIM:164210
HP:0000163	Abnormal oral cavity morphology	4281	MID1	OMIM:300000
HP:0000163	Abnormal oral cavity morphology	4281	MID1	ORPHA:2745
HP:0000163	Abnormal oral cavity morphology	80232	WDR26	ORPHA:513456
HP:0000163	Abnormal oral cavity morphology	80232	WDR26	OMIM:617616
HP:0000163	Abnormal oral cavity morphology	92579	G6PC3	OMIM:612541
HP:0000163	Abnormal oral cavity morphology	10459	MAD2L2	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	7516	XRCC2	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	29089	UBE2T	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	675	BRCA2	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2177	FANCD2	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2175	FANCA	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2187	FANCB	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2176	FANCC	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2178	FANCE	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2188	FANCF	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	2189	FANCG	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	5888	RAD51	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	5889	RAD51C	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	55159	RFWD3	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	83990	BRIP1	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	57697	FANCM	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	79728	PALB2	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	84464	SLX4	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	55215	FANCI	ORPHA:84
HP:0000163	Abnormal oral cavity morphology	9184	BUB3	ORPHA:1052
HP:0000163	Abnormal oral cavity morphology	701	BUB1B	ORPHA:1052
HP:0000163	Abnormal oral cavity morphology	701	BUB1B	OMIM:257300
HP:0000163	Abnormal oral cavity morphology	2615	LRRC32	OMIM:619074
HP:0000163	Abnormal oral cavity morphology	392255	GDF6	OMIM:118100
HP:0000163	Abnormal oral cavity morphology	392255	GDF6	ORPHA:2345
HP:0000163	Abnormal oral cavity morphology	4519	MT-CYB	ORPHA:137675
HP:0000163	Abnormal oral cavity morphology	54499	TMCO1	OMIM:213980
HP:0000163	Abnormal oral cavity morphology	54499	TMCO1	ORPHA:1394
HP:0000163	Abnormal oral cavity morphology	157570	ESCO2	ORPHA:3103
HP:0000163	Abnormal oral cavity morphology	157570	ESCO2	OMIM:268300
HP:0000163	Abnormal oral cavity morphology	78989	COLEC11	OMIM:265050
HP:0000163	Abnormal oral cavity morphology	5324	PLAG1	ORPHA:397590
HP:0000163	Abnormal oral cavity morphology	8091	HMGA2	ORPHA:397590
HP:0000163	Abnormal oral cavity morphology	10324	KLHL41	OMIM:615731
HP:0000163	Abnormal oral cavity morphology	2625	GATA3	ORPHA:2237
HP:0000163	Abnormal oral cavity morphology	11023	VAX1	OMIM:614402
HP:0000163	Abnormal oral cavity morphology	8195	MKKS	ORPHA:2473
HP:0000163	Abnormal oral cavity morphology	9939	RBM8A	ORPHA:3320
HP:0000163	Abnormal oral cavity morphology	9939	RBM8A	OMIM:274000
HP:0000163	Abnormal oral cavity morphology	9573	GDF3	ORPHA:2345
HP:0000163	Abnormal oral cavity morphology	1297	COL9A1	ORPHA:250984
HP:0000163	Abnormal oral cavity morphology	1298	COL9A2	ORPHA:250984
HP:0000163	Abnormal oral cavity morphology	1299	COL9A3	ORPHA:250984
HP:0000163	Abnormal oral cavity morphology	84695	LOXL3	ORPHA:250984
HP:0000163	Abnormal oral cavity morphology	1144	CHRND	OMIM:253290
HP:0000163	Abnormal oral cavity morphology	1134	CHRNA1	OMIM:253290
HP:0000163	Abnormal oral cavity morphology	5648	MASP1	OMIM:257920
HP:0000163	Abnormal oral cavity morphology	29123	ANKRD11	ORPHA:2332
HP:0000163	Abnormal oral cavity morphology	8092	ALX1	OMIM:613456
HP:0000163	Abnormal oral cavity morphology	8092	ALX1	ORPHA:306542
HP:0000163	Abnormal oral cavity morphology	4854	NOTCH3	OMIM:130720
HP:0000163	Abnormal oral cavity morphology	5915	RARB	OMIM:615524
HP:0000163	Abnormal oral cavity morphology	2122	MECOM	OMIM:616738
HP:0000163	Abnormal oral cavity morphology	134701	RIPPLY2	ORPHA:2311
HP:0000163	Abnormal oral cavity morphology	10683	DLL3	ORPHA:2311
HP:0000163	Abnormal oral cavity morphology	3955	LFNG	ORPHA:2311
HP:0000163	Abnormal oral cavity morphology	84667	HES7	ORPHA:2311
HP:0000163	Abnormal oral cavity morphology	145873	MESP2	ORPHA:2311
HP:0000163	Abnormal oral cavity morphology	1063	CENPF	OMIM:243605
HP:0000163	Abnormal oral cavity morphology	23395	LARS2	OMIM:615300
HP:0000163	Abnormal oral cavity morphology	10046	MAMLD1	ORPHA:95706
HP:0000163	Abnormal oral cavity morphology	367	AR	ORPHA:95706
HP:0000163	Abnormal oral cavity morphology	23476	BRD4	ORPHA:199
HP:0000163	Abnormal oral cavity morphology	23233	EXOC6B	ORPHA:93359
HP:0000163	Abnormal oral cavity morphology	3199	HOXA2	OMIM:612290
HP:0000163	Abnormal oral cavity morphology	6911	TBX6	ORPHA:1797
HP:0000163	Abnormal oral cavity morphology	202018	TAPT1	OMIM:616897
HP:0000163	Abnormal oral cavity morphology	23247	KATNIP	OMIM:616784
HP:0000163	Abnormal oral cavity morphology	59341	TRPV4	ORPHA:2635
HP:0000163	Abnormal oral cavity morphology	55788	LMBRD1	ORPHA:79284
HP:0000163	Abnormal oral cavity morphology	5430	POLR2A	OMIM:618603
HP:0000163	Abnormal oral cavity morphology	23133	PHF8	OMIM:300263
HP:0000163	Abnormal oral cavity morphology	9130	FAM50A	OMIM:300261
HP:0000163	Abnormal oral cavity morphology	5885	RAD21	OMIM:614701
HP:0000163	Abnormal oral cavity morphology	6418	SET	OMIM:618106
HP:0000163	Abnormal oral cavity morphology	5575	PRKAR1B	OMIM:619680
HP:0000163	Abnormal oral cavity morphology	8443	GNPAT	OMIM:222765
HP:0000163	Abnormal oral cavity morphology	29998	BICRA	OMIM:619325
HP:0000163	Abnormal oral cavity morphology	10220	GDF11	OMIM:619122
HP:0000163	Abnormal oral cavity morphology	93986	FOXP2	ORPHA:209908
HP:0000163	Abnormal oral cavity morphology	5604	MAP2K1	ORPHA:1340
HP:0000163	Abnormal oral cavity morphology	5605	MAP2K2	ORPHA:1340
HP:0000163	Abnormal oral cavity morphology	833	CARS1	OMIM:618891
HP:0000163	Abnormal oral cavity morphology	51729	WBP11	OMIM:619227
HP:0000163	Abnormal oral cavity morphology	3090	HIC1	ORPHA:531
HP:0000163	Abnormal oral cavity morphology	5979	RET	OMIM:162300
HP:0000163	Abnormal oral cavity morphology	7528	YY1	ORPHA:506358
HP:0000163	Abnormal oral cavity morphology	7528	YY1	OMIM:617557
HP:0000163	Abnormal oral cavity morphology	8450	CUL4B	OMIM:300354
HP:0000163	Abnormal oral cavity morphology	8450	CUL4B	ORPHA:85293
HP:0000163	Abnormal oral cavity morphology	23394	ADNP	ORPHA:404448
HP:0000163	Abnormal oral cavity morphology	23394	ADNP	OMIM:615873
HP:0000163	Abnormal oral cavity morphology	27316	RBMX	OMIM:300238
HP:0000163	Abnormal oral cavity morphology	9759	HDAC4	OMIM:619797
HP:0000163	Abnormal oral cavity morphology	6228	RPS23	OMIM:617412
HP:0000163	Abnormal oral cavity morphology	5894	RAF1	OMIM:611554
HP:0000163	Abnormal oral cavity morphology	5894	RAF1	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	84282	RNF135	ORPHA:137634
HP:0000163	Abnormal oral cavity morphology	5457	POU4F1	ORPHA:314647
HP:0000163	Abnormal oral cavity morphology	23261	CAMTA1	ORPHA:314647
HP:0000163	Abnormal oral cavity morphology	23261	CAMTA1	OMIM:614756
HP:0000163	Abnormal oral cavity morphology	5745	PTH1R	OMIM:600002
HP:0000163	Abnormal oral cavity morphology	57520	HECW2	OMIM:617268
HP:0000163	Abnormal oral cavity morphology	79639	TMEM53	OMIM:619727
HP:0000163	Abnormal oral cavity morphology	4758	NEU1	ORPHA:812
HP:0000163	Abnormal oral cavity morphology	1301	COL11A1	OMIM:154780
HP:0000163	Abnormal oral cavity morphology	1301	COL11A1	ORPHA:560
HP:0000163	Abnormal oral cavity morphology	56992	KIF15	ORPHA:261323
HP:0000163	Abnormal oral cavity morphology	23221	RHOBTB2	OMIM:618004
HP:0000163	Abnormal oral cavity morphology	57492	ARID1B	OMIM:135900
HP:0000163	Abnormal oral cavity morphology	57492	ARID1B	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	24140	FTSJ1	OMIM:309549
HP:0000163	Abnormal oral cavity morphology	6601	SMARCC2	OMIM:618362
HP:0000163	Abnormal oral cavity morphology	6601	SMARCC2	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	4052	LTBP1	OMIM:619451
HP:0000163	Abnormal oral cavity morphology	3899	AFF3	OMIM:619297
HP:0000163	Abnormal oral cavity morphology	3643	INSR	OMIM:246200
HP:0000163	Abnormal oral cavity morphology	6597	SMARCA4	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	6597	SMARCA4	OMIM:614609
HP:0000163	Abnormal oral cavity morphology	6598	SMARCB1	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	8289	ARID1A	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	8289	ARID1A	OMIM:614607
HP:0000163	Abnormal oral cavity morphology	5977	DPF2	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	5977	DPF2	OMIM:618027
HP:0000163	Abnormal oral cavity morphology	6605	SMARCE1	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	6605	SMARCE1	OMIM:616938
HP:0000163	Abnormal oral cavity morphology	6664	SOX11	ORPHA:1465
HP:0000163	Abnormal oral cavity morphology	2770	GNAI1	OMIM:619854
HP:0000163	Abnormal oral cavity morphology	9820	CUL7	OMIM:273750
HP:0000163	Abnormal oral cavity morphology	4054	LTBP3	ORPHA:969
HP:0000163	Abnormal oral cavity morphology	83550	GPR101	ORPHA:963
HP:0000163	Abnormal oral cavity morphology	9049	AIP	ORPHA:963
HP:0000163	Abnormal oral cavity morphology	2717	GLA	ORPHA:324
HP:0000163	Abnormal oral cavity morphology	1009	CDH11	OMIM:211380
HP:0000163	Abnormal oral cavity morphology	25942	SIN3A	ORPHA:94065
HP:0000163	Abnormal oral cavity morphology	25942	SIN3A	OMIM:613406
HP:0000163	Abnormal oral cavity morphology	9839	ZEB2	ORPHA:261552
HP:0000163	Abnormal oral cavity morphology	9839	ZEB2	ORPHA:261537
HP:0000163	Abnormal oral cavity morphology	10524	KAT5	OMIM:619103
HP:0000163	Abnormal oral cavity morphology	175	AGA	OMIM:208400
HP:0000163	Abnormal oral cavity morphology	3782	KCNN3	OMIM:618658
HP:0000163	Abnormal oral cavity morphology	10522	DEAF1	OMIM:615828
HP:0000163	Abnormal oral cavity morphology	81620	CDT1	OMIM:613804
HP:0000163	Abnormal oral cavity morphology	760	CA2	ORPHA:2785
HP:0000163	Abnormal oral cavity morphology	26227	PHGDH	OMIM:256520
HP:0000163	Abnormal oral cavity morphology	6611	SMS	ORPHA:3063
HP:0000163	Abnormal oral cavity morphology	6611	SMS	OMIM:309583
HP:0000163	Abnormal oral cavity morphology	56006	SMG9	OMIM:616920
HP:0000163	Abnormal oral cavity morphology	2517	FUCA1	OMIM:230000
HP:0000163	Abnormal oral cavity morphology	6804	STX1A	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	7461	CLIP2	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	84277	DNAJC30	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	8468	FKBP6	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	5982	RFC2	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	2969	GTF2I	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	3984	LIMK1	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	9569	GTF2IRD1	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	155382	VPS37D	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	155368	METTL27	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	114049	BUD23	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	7458	EIF4H	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	84163	GTF2IRD2	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	9275	BCL7B	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	26608	TBL2	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	653361	NCF1	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	135886	TMEM270	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	51085	MLXIPL	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	51085	MLXIPL	OMIM:194050
HP:0000163	Abnormal oral cavity morphology	9031	BAZ1B	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	2006	ELN	ORPHA:904
HP:0000163	Abnormal oral cavity morphology	2006	ELN	OMIM:194050
HP:0000163	Abnormal oral cavity morphology	10060	ABCC9	OMIM:239850
HP:0000163	Abnormal oral cavity morphology	23137	SMC5	OMIM:620185
HP:0000163	Abnormal oral cavity morphology	26137	ZBTB20	OMIM:259050
HP:0000163	Abnormal oral cavity morphology	79813	EHMT1	ORPHA:261652
HP:0000163	Abnormal oral cavity morphology	58508	KMT2C	ORPHA:261652
HP:0000163	Abnormal oral cavity morphology	55617	TASP1	OMIM:618950
HP:0000163	Abnormal oral cavity morphology	23067	SETD1B	OMIM:619000
HP:0000163	Abnormal oral cavity morphology	7358	UGDH	OMIM:618792
HP:0000163	Abnormal oral cavity morphology	92335	STRADA	OMIM:611087
HP:0000163	Abnormal oral cavity morphology	55691	FRMD4A	ORPHA:466688
HP:0000163	Abnormal oral cavity morphology	10430	TMEM147	OMIM:620075
HP:0000163	Abnormal oral cavity morphology	139285	AMER1	OMIM:300373
HP:0000163	Abnormal oral cavity morphology	1893	ECM1	ORPHA:530
HP:0000163	Abnormal oral cavity morphology	3423	IDS	OMIM:309900
HP:0000163	Abnormal oral cavity morphology	9487	PIGL	OMIM:280000
HP:0000163	Abnormal oral cavity morphology	84168	ANTXR1	OMIM:230740
HP:0000163	Abnormal oral cavity morphology	54187	NANS	OMIM:610442
HP:0000163	Abnormal oral cavity morphology	22800	RRAS2	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	8216	LZTR1	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	6016	RIT1	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	6237	RRAS	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	22808	MRAS	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	3845	KRAS	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	200734	SPRED2	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	6654	SOS1	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	6655	SOS2	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	5781	PTPN11	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	5922	RASA2	ORPHA:648
HP:0000163	Abnormal oral cavity morphology	6513	SLC2A1	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	8831	SYNGAP1	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	1173	AP2M1	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	6323	SCN1A	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	340533	NEXMIF	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	1106	CHD2	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	6529	SLC6A1	ORPHA:1942
HP:0000163	Abnormal oral cavity morphology	4668	NAGA	OMIM:609242
HP:0000163	Abnormal oral cavity morphology	27077	B9D1	OMIM:617120
HP:0000163	Abnormal oral cavity morphology	55331	ACER3	OMIM:617762
HP:0000163	Abnormal oral cavity morphology	2702	GJA5	OMIM:612474
HP:0000163	Abnormal oral cavity morphology	2703	GJA8	OMIM:612474
HP:0000163	Abnormal oral cavity morphology	5696	PSMB8	OMIM:256040
HP:0000163	Abnormal oral cavity morphology	10075	HUWE1	OMIM:309590
HP:0000163	Abnormal oral cavity morphology	65250	CPLANE1	OMIM:277170
HP:0000163	Abnormal oral cavity morphology	65250	CPLANE1	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	54903	MKS1	OMIM:249000
HP:0000163	Abnormal oral cavity morphology	153241	CEP120	OMIM:616300
HP:0000163	Abnormal oral cavity morphology	26005	C2CD3	ORPHA:434179
HP:0000163	Abnormal oral cavity morphology	26005	C2CD3	OMIM:615948
HP:0000163	Abnormal oral cavity morphology	9851	KIAA0753	OMIM:617127
HP:0000163	Abnormal oral cavity morphology	9851	KIAA0753	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	4208	MEF2C	OMIM:613443
HP:0000163	Abnormal oral cavity morphology	26123	TCTN3	OMIM:614815
HP:0000163	Abnormal oral cavity morphology	26123	TCTN3	OMIM:258860
HP:0000163	Abnormal oral cavity morphology	26123	TCTN3	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	79583	TMEM231	ORPHA:2752
HP:0000163	Abnormal oral cavity morphology	10210	TOPORS	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	5147	PDE6D	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	51259	TMEM216	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	317662	FAM149B1	ORPHA:2754
HP:0000163	Abnormal oral cavity morphology	55149	MTPAP	ORPHA:254343
HP:0000163	Abnormal oral cavity morphology	10382	TUBB4A	ORPHA:98805
HP:0000163	Abnormal oral cavity morphology	2548	GAA	ORPHA:308552
HP:0000163	Abnormal oral cavity morphology	23400	ATP13A2	ORPHA:306674
HP:0000163	Abnormal oral cavity morphology	57679	ALS2	OMIM:205100
HP:0000163	Abnormal oral cavity morphology	57679	ALS2	OMIM:606353
HP:0000163	Abnormal oral cavity morphology	79628	SH3TC2	ORPHA:99949
HP:0000163	Abnormal oral cavity morphology	1906	EDN1	ORPHA:137888
HP:0000163	Abnormal oral cavity morphology	5332	PLCB4	ORPHA:137888
HP:0000163	Abnormal oral cavity morphology	2773	GNAI3	ORPHA:137888
HP:0000163	Abnormal oral cavity morphology	81846	SBF2	ORPHA:99956
HP:0000163	Abnormal oral cavity morphology	80144	FRAS1	OMIM:219000
HP:0000163	Abnormal oral cavity morphology	10755	GIPC1	ORPHA:98897
HP:0000163	Abnormal oral cavity morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0000163	Abnormal oral cavity morphology	699	BUB1	OMIM:620183
HP:0000163	Abnormal oral cavity morphology	4488	MSX2	OMIM:604757
HP:0000163	Abnormal oral cavity morphology	6628	SNRPB	OMIM:117650
HP:0000163	Abnormal oral cavity morphology	10526	IPO8	OMIM:619472
HP:0000163	Abnormal oral cavity morphology	1859	DYRK1A	ORPHA:268261
HP:0000163	Abnormal oral cavity morphology	6949	TCOF1	OMIM:154500
HP:0000163	Abnormal oral cavity morphology	1280	COL2A1	ORPHA:93316
HP:0000163	Abnormal oral cavity morphology	7314	UBB	ORPHA:99772
HP:0000163	Abnormal oral cavity morphology	57822	GRHL3	ORPHA:99772
HP:0000163	Abnormal oral cavity morphology	6135	RPL11	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6138	RPL15	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6229	RPS24	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6125	RPL5	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6204	RPS10	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6224	RPS20	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6165	RPL35A	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	2623	GATA1	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6223	RPS19	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6232	RPS27	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6231	RPS26	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	11224	RPL35	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6160	RPL31	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6218	RPS17	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6201	RPS7	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6155	RPL27	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6154	RPL26	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6210	RPS15A	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	90121	TSR2	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6141	RPL18	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6235	RPS29	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	6234	RPS28	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	51816	ADA2	ORPHA:124
HP:0000163	Abnormal oral cavity morphology	83479	DDX59	ORPHA:2919
HP:0000163	Abnormal oral cavity morphology	7043	TGFB3	OMIM:615582
HP:0000163	Abnormal oral cavity morphology	8882	ZPR1	OMIM:619321
HP:0000163	Abnormal oral cavity morphology	55033	FKBP14	OMIM:614557
HP:0000163	Abnormal oral cavity morphology	6602	SMARCD1	OMIM:618779
HP:0000163	Abnormal oral cavity morphology	60386	SLC25A19	ORPHA:99742
HP:0000163	Abnormal oral cavity morphology	9896	FIG4	OMIM:216340
HP:0000163	Abnormal oral cavity morphology	1717	DHCR7	OMIM:270400
HP:0000163	Abnormal oral cavity morphology	2697	GJA1	OMIM:218400
HP:0000163	Abnormal oral cavity morphology	2697	GJA1	OMIM:164200
HP:0000163	Abnormal oral cavity morphology	2697	GJA1	ORPHA:2710
HP:0000163	Abnormal oral cavity morphology	171023	ASXL1	OMIM:605039
HP:0000163	Abnormal oral cavity morphology	285590	SH3PXD2B	OMIM:249420
HP:0000163	Abnormal oral cavity morphology	170302	ARX	OMIM:300004
HP:0000163	Abnormal oral cavity morphology	55906	ZC4H2	OMIM:314580
HP:0000163	Abnormal oral cavity morphology	473	RERE	OMIM:616975
HP:0000163	Abnormal oral cavity morphology	129563	DIS3L2	ORPHA:2849
HP:0000163	Abnormal oral cavity morphology	8481	OFD1	ORPHA:2750
HP:0000163	Abnormal oral cavity morphology	2799	GNS	OMIM:252940
HP:0000163	Abnormal oral cavity morphology	26040	SETBP1	ORPHA:798
HP:0000163	Abnormal oral cavity morphology	526	ATP6V1B2	ORPHA:79500
HP:0000163	Abnormal oral cavity morphology	57465	TBC1D24	ORPHA:79500
HP:0000163	Abnormal oral cavity morphology	546	ATRX	OMIM:309580
HP:0000163	Abnormal oral cavity morphology	23065	EMC1	OMIM:616875
HP:0000163	Abnormal oral cavity morphology	55697	VAC14	ORPHA:3472
HP:0000163	Abnormal oral cavity morphology	53834	FGFRL1	OMIM:194190
HP:0000163	Abnormal oral cavity morphology	1487	CTBP1	OMIM:194190
HP:0000163	Abnormal oral cavity morphology	3954	LETM1	OMIM:194190
HP:0000163	Abnormal oral cavity morphology	7468	NSD2	OMIM:194190
HP:0000163	Abnormal oral cavity morphology	10815	CPLX1	OMIM:194190
HP:0000163	Abnormal oral cavity morphology	117581	TWIST2	OMIM:200110
HP:0000163	Abnormal oral cavity morphology	271	AMPD2	OMIM:615809
HP:0000163	Abnormal oral cavity morphology	7291	TWIST1	ORPHA:794
HP:0000163	Abnormal oral cavity morphology	7291	TWIST1	OMIM:101400
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	ORPHA:794
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	ORPHA:1555
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	OMIM:123790
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	ORPHA:87
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	ORPHA:207
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	OMIM:101400
HP:0000163	Abnormal oral cavity morphology	2263	FGFR2	OMIM:101200
HP:0000163	Abnormal oral cavity morphology	2261	FGFR3	ORPHA:794
HP:0000163	Abnormal oral cavity morphology	6197	RPS6KA3	ORPHA:192
HP:0000163	Abnormal oral cavity morphology	6197	RPS6KA3	OMIM:303600
HP:0000163	Abnormal oral cavity morphology	6909	TBX2	OMIM:618223
HP:0000163	Abnormal oral cavity morphology	56896	DPYSL5	OMIM:619435
HP:0000163	Abnormal oral cavity morphology	2892	GRIA3	ORPHA:364028
HP:0000163	Abnormal oral cavity morphology	3590	IL11RA	OMIM:614188
HP:0000163	Abnormal oral cavity morphology	8506	CNTNAP1	OMIM:618186
HP:0000163	Abnormal oral cavity morphology	9524	TECR	OMIM:614020
HP:0000163	Abnormal oral cavity morphology	1387	CREBBP	OMIM:180849
HP:0000163	Abnormal oral cavity morphology	1387	CREBBP	ORPHA:353281
HP:0000163	Abnormal oral cavity morphology	1387	CREBBP	ORPHA:353277
HP:0000163	Abnormal oral cavity morphology	22931	RAB18	OMIM:614222
HP:0000163	Abnormal oral cavity morphology	8924	HERC2	OMIM:615516
HP:0000163	Abnormal oral cavity morphology	79005	SCNM1	OMIM:620107
HP:0000163	Abnormal oral cavity morphology	5728	PTEN	ORPHA:109
HP:0000163	Abnormal oral cavity morphology	2200	FBN1	OMIM:608328
HP:0000163	Abnormal oral cavity morphology	2200	FBN1	OMIM:154700
HP:0000163	Abnormal oral cavity morphology	91754	NEK9	OMIM:617022
HP:0000163	Abnormal oral cavity morphology	8567	MADD	OMIM:619004
HP:0000163	Abnormal oral cavity morphology	63916	ELMO2	ORPHA:3019
HP:0000163	Abnormal oral cavity morphology	57038	RARS2	OMIM:611523
HP:0000163	Abnormal oral cavity morphology	4952	OCRL	ORPHA:534
HP:0000163	Abnormal oral cavity morphology	55343	SLC35C1	ORPHA:99843
HP:0000163	Abnormal oral cavity morphology	6660	SOX5	ORPHA:313892
HP:0000163	Abnormal oral cavity morphology	1376	CPT2	OMIM:608836
HP:0000163	Abnormal oral cavity morphology	6497	SKI	OMIM:182212
HP:0000163	Abnormal oral cavity morphology	6452	SH3BP2	OMIM:118400
HP:0000163	Abnormal oral cavity morphology	1513	CTSK	OMIM:265800
HP:0000163	Abnormal oral cavity morphology	64324	NSD1	OMIM:117550
HP:0000163	Abnormal oral cavity morphology	8260	NAA10	OMIM:300855
HP:0000163	Abnormal oral cavity morphology	23184	MESD	OMIM:618644
HP:0000163	Abnormal oral cavity morphology	91137	SLC25A46	OMIM:616505
HP:0000163	Abnormal oral cavity morphology	284058	KANSL1	OMIM:610443
HP:0000163	Abnormal oral cavity morphology	7476	WNT7A	OMIM:276820
HP:0000163	Abnormal oral cavity morphology	2077	ERF	ORPHA:207
HP:0000163	Abnormal oral cavity morphology	147372	CCBE1	OMIM:235510
HP:0000163	Abnormal oral cavity morphology	7474	WNT5A	OMIM:180700
HP:0000163	Abnormal oral cavity morphology	1855	DVL1	OMIM:180700
HP:0000163	Abnormal oral cavity morphology	8604	SLC25A12	OMIM:612949
HP:0000163	Abnormal oral cavity morphology	3265	HRAS	ORPHA:3071
HP:0000163	Abnormal oral cavity morphology	2316	FLNA	ORPHA:555877
HP:0000163	Abnormal oral cavity morphology	860	RUNX2	OMIM:119600
HP:0000163	Abnormal oral cavity morphology	58497	PRUNE1	OMIM:617481
HP:0000163	Abnormal oral cavity morphology	10297	APC2	OMIM:617169
HP:0000163	Abnormal oral cavity morphology	672	BRCA1	OMIM:617883
HP:0000163	Abnormal oral cavity morphology	1954	MEGF8	OMIM:614976
HP:0000163	Abnormal oral cavity morphology	7227	TRPS1	OMIM:190350
HP:0000163	Abnormal oral cavity morphology	2719	GPC3	OMIM:312870
HP:0000163	Abnormal oral cavity morphology	165	AEBP1	ORPHA:536532
HP:0000163	Abnormal oral cavity morphology	81794	ADAMTS10	OMIM:277600
HP:0000163	Abnormal oral cavity morphology	5566	PRKACA	ORPHA:289
HP:0000163	Abnormal oral cavity morphology	2735	GLI1	ORPHA:289
HP:0000163	Abnormal oral cavity morphology	2121	EVC	ORPHA:289
HP:0000163	Abnormal oral cavity morphology	2121	EVC	ORPHA:952
HP:0000163	Abnormal oral cavity morphology	51626	DYNC2LI1	ORPHA:289
HP:0000163	Abnormal oral cavity morphology	132884	EVC2	ORPHA:289
HP:0000163	Abnormal oral cavity morphology	132884	EVC2	ORPHA:952
HP:0000163	Abnormal oral cavity morphology	1281	COL3A1	ORPHA:286
HP:0000163	Abnormal oral cavity morphology	54101	RIPK4	ORPHA:1401
HP:0000163	Abnormal oral cavity morphology	10716	TBR1	ORPHA:1617
HP:0000163	Abnormal oral cavity morphology	9786	KIAA0586	OMIM:616546
HP:0000163	Abnormal oral cavity morphology	1147	CHUK	OMIM:619339
HP:0000163	Abnormal oral cavity morphology	9894	TELO2	OMIM:616954
HP:0000163	Abnormal oral cavity morphology	55081	IFT57	OMIM:617927
HP:0000163	Abnormal oral cavity morphology	10225	CD96	ORPHA:1308
HP:0000163	Abnormal oral cavity morphology	10225	CD96	OMIM:211750
HP:0000163	Abnormal oral cavity morphology	3476	IGBP1	OMIM:300472
HP:0000163	Abnormal oral cavity morphology	9949	AMMECR1	OMIM:300990
HP:0000163	Abnormal oral cavity morphology	2737	GLI3	ORPHA:672
HP:0000163	Abnormal oral cavity morphology	4088	SMAD3	ORPHA:284984
HP:0000163	Abnormal oral cavity morphology	4088	SMAD3	OMIM:613795
HP:0000163	Abnormal oral cavity morphology	274	BIN1	ORPHA:169186
HP:0000163	Abnormal oral cavity morphology	10290	SPEG	ORPHA:169186
HP:0000163	Abnormal oral cavity morphology	10290	SPEG	OMIM:615959
HP:0000163	Abnormal oral cavity morphology	7273	TTN	ORPHA:169186
HP:0000163	Abnormal oral cavity morphology	85465	SELENOI	ORPHA:506353
HP:0000163	Abnormal oral cavity morphology	85465	SELENOI	OMIM:618768
HP:0000163	Abnormal oral cavity morphology	6477	SIAH1	OMIM:619314
HP:0000163	Abnormal oral cavity morphology	23135	KDM6B	OMIM:618505
HP:0000163	Abnormal oral cavity morphology	23498	HAAO	OMIM:617660
HP:0000163	Abnormal oral cavity morphology	6651	SON	OMIM:617140
HP:0000163	Abnormal oral cavity morphology	6651	SON	ORPHA:500150
HP:0000163	Abnormal oral cavity morphology	3664	IRF6	OMIM:119500
HP:0000163	Abnormal oral cavity morphology	3664	IRF6	OMIM:119300
HP:0000163	Abnormal oral cavity morphology	80055	PGAP1	OMIM:615802
HP:0000163	Abnormal oral cavity morphology	84892	POMGNT2	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	148789	B3GALNT2	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	79147	FKRP	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	9215	LARGE1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	1282	COL4A1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	729920	CRPPA	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	10329	RXYLT1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	1605	DAG1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	11041	B4GAT1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	10585	POMT1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	84197	POMK	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	2218	FKTN	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	55624	POMGNT1	ORPHA:899
HP:0000163	Abnormal oral cavity morphology	79068	FTO	OMIM:612938
HP:0000163	Abnormal oral cavity morphology	1741	DLG3	OMIM:300850
HP:0000163	Abnormal oral cavity morphology	10735	STAG2	OMIM:301022
HP:0000163	Abnormal oral cavity morphology	10735	STAG2	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	10735	STAG2	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	84992	PIGY	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	84720	PIGO	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	93210	PGAP3	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	284098	PIGW	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	27315	PGAP2	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	55650	PIGV	ORPHA:247262
HP:0000163	Abnormal oral cavity morphology	80204	FBXO11	OMIM:618089
HP:0000163	Abnormal oral cavity morphology	1108	CHD4	OMIM:617159
HP:0000163	Abnormal oral cavity morphology	64131	XYLT1	OMIM:615777
HP:0000163	Abnormal oral cavity morphology	5000	ORC4	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	23594	ORC6	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	8318	CDC45	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	990	CDC6	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	4998	ORC1	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	51053	GMNN	ORPHA:2554
HP:0000163	Abnormal oral cavity morphology	444	ASPH	OMIM:601552
HP:0000163	Abnormal oral cavity morphology	6469	SHH	OMIM:142945
HP:0000163	Abnormal oral cavity morphology	6469	SHH	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	6469	SHH	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	6469	SHH	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	6469	SHH	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	9401	RECQL4	OMIM:218600
HP:0000163	Abnormal oral cavity morphology	5422	POLA1	OMIM:301030
HP:0000163	Abnormal oral cavity morphology	10484	SEC23A	OMIM:607812
HP:0000163	Abnormal oral cavity morphology	652	BMP4	OMIM:607932
HP:0000163	Abnormal oral cavity morphology	633	BGN	OMIM:300989
HP:0000163	Abnormal oral cavity morphology	80776	B9D2	OMIM:614175
HP:0000163	Abnormal oral cavity morphology	28514	DLL1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	28514	DLL1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	28514	DLL1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	28514	DLL1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	2253	FGF8	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	2253	FGF8	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	2253	FGF8	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	2253	FGF8	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	6496	SIX3	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	6496	SIX3	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	6496	SIX3	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	6496	SIX3	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	6496	SIX3	OMIM:157170
HP:0000163	Abnormal oral cavity morphology	7050	TGIF1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	7050	TGIF1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	7050	TGIF1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	7050	TGIF1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	4838	NODAL	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	4838	NODAL	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	4838	NODAL	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	4838	NODAL	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	6491	STIL	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	6491	STIL	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	6491	STIL	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	6491	STIL	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	2619	GAS1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	2619	GAS1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	2619	GAS1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	2619	GAS1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	84976	DISP1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	84976	DISP1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	84976	DISP1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	84976	DISP1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	2736	GLI2	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	2736	GLI2	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	2736	GLI2	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	2736	GLI2	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	8928	FOXH1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	8928	FOXH1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	8928	FOXH1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	8928	FOXH1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	5727	PTCH1	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	5727	PTCH1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	5727	PTCH1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	5727	PTCH1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	50937	CDON	ORPHA:93926
HP:0000163	Abnormal oral cavity morphology	50937	CDON	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	50937	CDON	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	50937	CDON	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	2260	FGFR1	ORPHA:93924
HP:0000163	Abnormal oral cavity morphology	2260	FGFR1	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	124512	METTL23	OMIM:615942
HP:0000163	Abnormal oral cavity morphology	23007	PLCH1	ORPHA:93925
HP:0000163	Abnormal oral cavity morphology	6638	SNRPN	ORPHA:177907
HP:0000163	Abnormal oral cavity morphology	11285	B4GALT7	OMIM:130070
HP:0000163	Abnormal oral cavity morphology	23347	SMCHD1	ORPHA:2250
HP:0000163	Abnormal oral cavity morphology	6905	TBCE	OMIM:241410
HP:0000163	Abnormal oral cavity morphology	63895	PIEZO2	OMIM:114300
HP:0000163	Abnormal oral cavity morphology	63895	PIEZO2	ORPHA:2461
HP:0000163	Abnormal oral cavity morphology	29895	MYL11	OMIM:619110
HP:0000163	Abnormal oral cavity morphology	9791	PTDSS1	ORPHA:2658
HP:0000163	Abnormal oral cavity morphology	8452	CUL3	OMIM:619239
HP:0000163	Abnormal oral cavity morphology	246329	STAC3	ORPHA:168572
HP:0000163	Abnormal oral cavity morphology	8085	KMT2D	OMIM:620186
HP:0000163	Abnormal oral cavity morphology	10907	TXNL4A	OMIM:608572
HP:0000163	Abnormal oral cavity morphology	79796	ALG9	ORPHA:79328
HP:0000163	Abnormal oral cavity morphology	284252	KCTD1	OMIM:181270
HP:0000163	Abnormal oral cavity morphology	1718	DHCR24	ORPHA:35107
HP:0000163	Abnormal oral cavity morphology	8239	USP9X	OMIM:300968
HP:0000163	Abnormal oral cavity morphology	6472	SHMT2	OMIM:619121
HP:0000163	Abnormal oral cavity morphology	9928	KIF14	OMIM:616258
HP:0000163	Abnormal oral cavity morphology	1654	DDX3X	OMIM:300958
HP:0000163	Abnormal oral cavity morphology	2255	FGF10	ORPHA:2363
HP:0000163	Abnormal oral cavity morphology	3373	HYAL1	OMIM:601492
HP:0000163	Abnormal oral cavity morphology	50945	TBX22	OMIM:303400
HP:0000163	Abnormal oral cavity morphology	23314	SATB2	ORPHA:576283
HP:0000163	Abnormal oral cavity morphology	81031	SLC2A10	OMIM:208050
HP:0000163	Abnormal oral cavity morphology	23483	TGDS	OMIM:616145
HP:0000163	Abnormal oral cavity morphology	9652	SKIC3	OMIM:222470
HP:0000163	Abnormal oral cavity morphology	8243	SMC1A	ORPHA:220386
HP:0000163	Abnormal oral cavity morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000163	Abnormal oral cavity morphology	5236	PGM1	OMIM:614921
HP:0000163	Abnormal oral cavity morphology	7048	TGFBR2	OMIM:610168
HP:0000163	Abnormal oral cavity morphology	7048	TGFBR2	ORPHA:60030
HP:0000163	Abnormal oral cavity morphology	23522	KAT6B	ORPHA:3047
HP:0000163	Abnormal oral cavity morphology	1302	COL11A2	ORPHA:1427
HP:0000163	Abnormal oral cavity morphology	10195	ALG3	OMIM:601110
HP:0000163	Abnormal oral cavity morphology	9742	IFT140	OMIM:266920
HP:0000163	Abnormal oral cavity morphology	9775	EIF4A3	OMIM:268305
HP:0000163	Abnormal oral cavity morphology	91252	SLC39A13	OMIM:612350
HP:0000163	Abnormal oral cavity morphology	7046	TGFBR1	ORPHA:60030
HP:0000163	Abnormal oral cavity morphology	7046	TGFBR1	OMIM:609192
HP:0000163	Abnormal oral cavity morphology	219844	HYLS1	ORPHA:2189
HP:0000163	Abnormal oral cavity morphology	7042	TGFB2	OMIM:614816
HP:0000163	Abnormal oral cavity morphology	4089	SMAD4	ORPHA:2588
HP:0000163	Abnormal oral cavity morphology	2137	EXTL3	ORPHA:508533
HP:0000163	Abnormal oral cavity morphology	5144	PDE4D	ORPHA:950
HP:0000163	Abnormal oral cavity morphology	3763	KCNJ6	ORPHA:435628
HP:0000163	Abnormal oral cavity morphology	3763	KCNJ6	OMIM:614098
HP:0000163	Abnormal oral cavity morphology	23141	ANKLE2	OMIM:616681
HP:0000163	Abnormal oral cavity morphology	8473	OGT	OMIM:300997
HP:0000163	Abnormal oral cavity morphology	65062	TMEM237	OMIM:614424
HP:0000163	Abnormal oral cavity morphology	53616	ADAM22	OMIM:617933
HP:0000163	Abnormal oral cavity morphology	55777	MBD5	ORPHA:228402
HP:0000163	Abnormal oral cavity morphology	55777	MBD5	OMIM:156200
HP:0000163	Abnormal oral cavity morphology	118987	PDZD8	OMIM:620021
HP:0000163	Abnormal oral cavity morphology	2629	GBA1	OMIM:608013
HP:0000163	Abnormal oral cavity morphology	23126	POGZ	ORPHA:468678
HP:0000163	Abnormal oral cavity morphology	10479	SLC9A6	OMIM:300243
HP:0000163	Abnormal oral cavity morphology	6535	SLC6A8	ORPHA:52503
HP:0000163	Abnormal oral cavity morphology	116931	MED12L	OMIM:618872
HP:0000163	Abnormal oral cavity morphology	283489	CHAMP1	OMIM:616579
HP:0000163	Abnormal oral cavity morphology	2314	FLII	ORPHA:819
HP:0000163	Abnormal oral cavity morphology	23096	IQSEC2	ORPHA:819
HP:0000163	Abnormal oral cavity morphology	10743	RAI1	ORPHA:819
HP:0000163	Abnormal oral cavity morphology	3908	LAMA2	ORPHA:258
HP:0000163	Abnormal oral cavity morphology	5980	REV3L	ORPHA:570
HP:0000163	Abnormal oral cavity morphology	23129	PLXND1	ORPHA:570
HP:0000163	Abnormal oral cavity morphology	84340	GFM2	ORPHA:565624
HP:0000163	Abnormal oral cavity morphology	55870	ASH1L	OMIM:617796
HP:0000163	Abnormal oral cavity morphology	9326	ZNHIT3	ORPHA:2836
HP:0000163	Abnormal oral cavity morphology	9326	ZNHIT3	OMIM:260565
HP:0000163	Abnormal oral cavity morphology	547	KIF1A	ORPHA:2836
HP:0000163	Abnormal oral cavity morphology	23389	MED13L	ORPHA:369891
HP:0000163	Abnormal oral cavity morphology	23389	MED13L	OMIM:616789
HP:0000163	Abnormal oral cavity morphology	157680	VPS13B	OMIM:216550
HP:0000163	Abnormal oral cavity morphology	157680	VPS13B	ORPHA:193
HP:0000163	Abnormal oral cavity morphology	54806	AHI1	OMIM:608629
HP:0000163	Abnormal oral cavity morphology	23258	DENND5A	OMIM:617281
HP:0000163	Abnormal oral cavity morphology	4784	NFIX	ORPHA:561
HP:0000163	Abnormal oral cavity morphology	5442	POLRMT	OMIM:619743
HP:0000163	Abnormal oral cavity morphology	5528	PPP2R5D	OMIM:616355
HP:0000163	Abnormal oral cavity morphology	79576	NKAP	OMIM:301039
HP:0000163	Abnormal oral cavity morphology	1822	ATN1	OMIM:618494
HP:0000163	Abnormal oral cavity morphology	2475	MTOR	ORPHA:457485
HP:0000163	Abnormal oral cavity morphology	2475	MTOR	OMIM:616638
HP:0000163	Abnormal oral cavity morphology	54551	MAGEL2	OMIM:615547
HP:0000163	Abnormal oral cavity morphology	4247	MGAT2	OMIM:212066
HP:0000163	Abnormal oral cavity morphology	4247	MGAT2	ORPHA:79329
HP:0000163	Abnormal oral cavity morphology	5518	PPP2R1A	OMIM:616362
HP:0000163	Abnormal oral cavity morphology	5518	PPP2R1A	ORPHA:457284
HP:0000163	Abnormal oral cavity morphology	55768	NGLY1	OMIM:615273
HP:0000163	Abnormal oral cavity morphology	5281	PIGF	OMIM:619356
HP:0000163	Abnormal oral cavity morphology	57680	CHD8	OMIM:615032
HP:0000163	Abnormal oral cavity morphology	5063	PAK3	OMIM:300558
HP:0000163	Abnormal oral cavity morphology	1213	CLTC	OMIM:617854
HP:0000163	Abnormal oral cavity morphology	285175	UNC80	OMIM:616801
HP:0000163	Abnormal oral cavity morphology	3211	HOXB1	OMIM:614744
HP:0000163	Abnormal oral cavity morphology	8905	AP1S2	ORPHA:85329
HP:0000163	Abnormal oral cavity morphology	54828	BCAS3	OMIM:619641
HP:0000163	Abnormal oral cavity morphology	4841	NONO	OMIM:300967
HP:0000163	Abnormal oral cavity morphology	4841	NONO	ORPHA:466791
HP:0000163	Abnormal oral cavity morphology	27086	FOXP1	ORPHA:391372
HP:0000163	Abnormal oral cavity morphology	27086	FOXP1	OMIM:613670
HP:0000163	Abnormal oral cavity morphology	6942	TCF20	OMIM:618430
HP:0000163	Abnormal oral cavity morphology	57688	ZSWIM6	OMIM:617865
HP:0000163	Abnormal oral cavity morphology	207	AKT1	OMIM:176920
HP:0000163	Abnormal oral cavity morphology	55704	CCDC88A	OMIM:617507
HP:0000163	Abnormal oral cavity morphology	200424	TET3	OMIM:618798
HP:0000163	Abnormal oral cavity morphology	25973	PARS2	OMIM:618437
HP:0000163	Abnormal oral cavity morphology	9993	DGCR2	OMIM:192430
HP:0000163	Abnormal oral cavity morphology	8220	ESS2	OMIM:192430
HP:0000163	Abnormal oral cavity morphology	8214	DGCR6	OMIM:192430
HP:0000163	Abnormal oral cavity morphology	54487	DGCR8	OMIM:192430
HP:0000163	Abnormal oral cavity morphology	6899	TBX1	OMIM:192430
HP:0000163	Abnormal oral cavity morphology	8911	CACNA1I	OMIM:620114
HP:0000163	Abnormal oral cavity morphology	51244	CCDC174	OMIM:616816
HP:0000163	Abnormal oral cavity morphology	3756	KCNH1	ORPHA:420561
HP:0000163	Abnormal oral cavity morphology	23556	PIGN	OMIM:614080
HP:0000163	Abnormal oral cavity morphology	7030	TFE3	OMIM:301066
HP:0000163	Abnormal oral cavity morphology	5879	RAC1	OMIM:617751
HP:0000163	Abnormal oral cavity morphology	5879	RAC1	ORPHA:500159
HP:0000163	Abnormal oral cavity morphology	29954	POMT2	OMIM:613156
HP:0000163	Abnormal oral cavity morphology	11141	IL1RAPL1	OMIM:300143
HP:0000163	Abnormal oral cavity morphology	1968	EIF2S3	OMIM:300148
HP:0000163	Abnormal oral cavity morphology	27161	AGO2	OMIM:619149
HP:0000163	Abnormal oral cavity morphology	9427	ECEL1	OMIM:615065
HP:0000163	Abnormal oral cavity morphology	667	DST	OMIM:614653
HP:0000163	Abnormal oral cavity morphology	22907	DHX30	OMIM:617804
HP:0000163	Abnormal oral cavity morphology	1460	CSNK2B	OMIM:618732
HP:0000163	Abnormal oral cavity morphology	80816	ASXL3	ORPHA:352577
HP:0000163	Abnormal oral cavity morphology	7403	KDM6A	OMIM:300867
HP:0000163	Abnormal oral cavity morphology	8626	TP63	OMIM:604292
HP:0000163	Abnormal oral cavity morphology	5573	PRKAR1A	ORPHA:1359
HP:0000163	Abnormal oral cavity morphology	50940	PDE11A	ORPHA:1359
HP:0000163	Abnormal oral cavity morphology	8241	RBM10	ORPHA:2886
HP:0000163	Abnormal oral cavity morphology	8241	RBM10	OMIM:311900
HP:0000163	Abnormal oral cavity morphology	200894	ARL13B	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	9731	CEP104	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	219854	TMEM218	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	10464	PIBF1	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	80210	ARMC9	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	25776	CBY1	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	403	ARL3	ORPHA:475
HP:0000163	Abnormal oral cavity morphology	26160	IFT172	OMIM:615630
HP:0000163	Abnormal oral cavity morphology	81839	VANGL1	ORPHA:3027
HP:0000163	Abnormal oral cavity morphology	80199	FUZ	ORPHA:3027
HP:0000163	Abnormal oral cavity morphology	10436	EMG1	ORPHA:1270
HP:0000163	Abnormal oral cavity morphology	2767	GNA11	ORPHA:1556
HP:0000163	Abnormal oral cavity morphology	151188	ARL6IP6	ORPHA:1556
HP:0000163	Abnormal oral cavity morphology	4072	EPCAM	ORPHA:92050
HP:0000163	Abnormal oral cavity morphology	105371045	PERCC1	ORPHA:92050
HP:0000163	Abnormal oral cavity morphology	84295	PHF6	ORPHA:127
HP:0000163	Abnormal oral cavity morphology	8802	SUCLG1	ORPHA:17
HP:0000163	Abnormal oral cavity morphology	8974	P4HA2	ORPHA:397
HP:0000163	Abnormal oral cavity morphology	54676	GTPBP2	OMIM:617988
HP:0000163	Abnormal oral cavity morphology	114803	MYSM1	ORPHA:508542
HP:0000163	Abnormal oral cavity morphology	4323	MMP14	OMIM:277950
HP:0000163	Abnormal oral cavity morphology	4313	MMP2	OMIM:259600
HP:0000163	Abnormal oral cavity morphology	2776	GNAQ	ORPHA:3205
HP:0000163	Abnormal oral cavity morphology	55315	SLC29A3	ORPHA:168569
HP:0000163	Abnormal oral cavity morphology	875	CBS	ORPHA:394
HP:0000163	Abnormal oral cavity morphology	875	CBS	OMIM:236200
HP:0000163	Abnormal oral cavity morphology	2673	GFPT1	OMIM:608931
HP:0000163	Abnormal oral cavity morphology	2673	GFPT1	ORPHA:353327
HP:0000163	Abnormal oral cavity morphology	1145	CHRNE	OMIM:608931
HP:0000163	Abnormal oral cavity morphology	1145	CHRNE	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	5238	PGM3	ORPHA:443811
HP:0000163	Abnormal oral cavity morphology	5238	PGM3	OMIM:615816
HP:0000163	Abnormal oral cavity morphology	5184	PEPD	OMIM:170100
HP:0000163	Abnormal oral cavity morphology	4625	MYH7	OMIM:160500
HP:0000163	Abnormal oral cavity morphology	4625	MYH7	ORPHA:324604
HP:0000163	Abnormal oral cavity morphology	4625	MYH7	OMIM:255160
HP:0000163	Abnormal oral cavity morphology	4625	MYH7	ORPHA:59135
HP:0000163	Abnormal oral cavity morphology	55154	MSTO1	OMIM:617675
HP:0000163	Abnormal oral cavity morphology	55154	MSTO1	ORPHA:502423
HP:0000163	Abnormal oral cavity morphology	79029	AFG2B	OMIM:619616
HP:0000163	Abnormal oral cavity morphology	4620	MYH2	OMIM:605637
HP:0000163	Abnormal oral cavity morphology	4330	MN1	OMIM:618774
HP:0000163	Abnormal oral cavity morphology	8550	MAPKAPK5	OMIM:619869
HP:0000163	Abnormal oral cavity morphology	4534	MTM1	ORPHA:596
HP:0000163	Abnormal oral cavity morphology	4534	MTM1	OMIM:310400
HP:0000163	Abnormal oral cavity morphology	4534	MTM1	ORPHA:456328
HP:0000163	Abnormal oral cavity morphology	23259	DDHD2	OMIM:615033
HP:0000163	Abnormal oral cavity morphology	23259	DDHD2	ORPHA:320380
HP:0000163	Abnormal oral cavity morphology	92609	TIMM50	OMIM:617698
HP:0000163	Abnormal oral cavity morphology	6329	SCN4A	OMIM:614198
HP:0000163	Abnormal oral cavity morphology	6329	SCN4A	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	56652	TWNK	OMIM:616138
HP:0000163	Abnormal oral cavity morphology	163175	LGI4	OMIM:617468
HP:0000163	Abnormal oral cavity morphology	8565	YARS1	OMIM:619418
HP:0000163	Abnormal oral cavity morphology	10533	ATG7	OMIM:619422
HP:0000163	Abnormal oral cavity morphology	5081	PAX7	OMIM:618578
HP:0000163	Abnormal oral cavity morphology	2201	FBN2	ORPHA:115
HP:0000163	Abnormal oral cavity morphology	2201	FBN2	OMIM:121050
HP:0000163	Abnormal oral cavity morphology	57190	SELENON	ORPHA:324604
HP:0000163	Abnormal oral cavity morphology	57190	SELENON	OMIM:602771
HP:0000163	Abnormal oral cavity morphology	57190	SELENON	ORPHA:2020
HP:0000163	Abnormal oral cavity morphology	8925	HERC1	OMIM:617011
HP:0000163	Abnormal oral cavity morphology	8925	HERC1	ORPHA:457359
HP:0000163	Abnormal oral cavity morphology	79912	PYROXD1	OMIM:617258
HP:0000163	Abnormal oral cavity morphology	50814	NSDHL	ORPHA:251383
HP:0000163	Abnormal oral cavity morphology	50814	NSDHL	OMIM:300831
HP:0000163	Abnormal oral cavity morphology	5515	PPP2CA	OMIM:618354
HP:0000163	Abnormal oral cavity morphology	3039	HBA1	ORPHA:98791
HP:0000163	Abnormal oral cavity morphology	3040	HBA2	ORPHA:98791
HP:0000163	Abnormal oral cavity morphology	51434	ANAPC7	OMIM:619699
HP:0000163	Abnormal oral cavity morphology	1621	DBH	OMIM:223360
HP:0000163	Abnormal oral cavity morphology	9758	FRMPD4	OMIM:300983
HP:0000163	Abnormal oral cavity morphology	55975	KLHL7	OMIM:617055
HP:0000163	Abnormal oral cavity morphology	348180	CTU2	OMIM:618142
HP:0000163	Abnormal oral cavity morphology	3248	HPGD	OMIM:259100
HP:0000163	Abnormal oral cavity morphology	23387	SIK3	OMIM:618162
HP:0000163	Abnormal oral cavity morphology	1073	CFL2	OMIM:610687
HP:0000163	Abnormal oral cavity morphology	1073	CFL2	ORPHA:171436
HP:0000163	Abnormal oral cavity morphology	779	CACNA1S	OMIM:620246
HP:0000163	Abnormal oral cavity morphology	9562	MINPP1	ORPHA:284339
HP:0000163	Abnormal oral cavity morphology	65055	REEP1	OMIM:620011
HP:0000163	Abnormal oral cavity morphology	50484	RRM2B	ORPHA:329336
HP:0000163	Abnormal oral cavity morphology	246243	RNASEH1	ORPHA:329336
HP:0000163	Abnormal oral cavity morphology	5784	PTPN14	OMIM:613611
HP:0000163	Abnormal oral cavity morphology	29967	LRP12	OMIM:164310
HP:0000163	Abnormal oral cavity morphology	23116	TOGARAM1	OMIM:619185
HP:0000163	Abnormal oral cavity morphology	10056	FARSB	OMIM:613658
HP:0000163	Abnormal oral cavity morphology	79759	ZNF668	OMIM:620194
HP:0000163	Abnormal oral cavity morphology	8050	PDHX	OMIM:245349
HP:0000163	Abnormal oral cavity morphology	1305	COL13A1	OMIM:616720
HP:0000163	Abnormal oral cavity morphology	1305	COL13A1	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	1305	COL13A1	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	11133	KPTN	OMIM:615637
HP:0000163	Abnormal oral cavity morphology	11133	KPTN	ORPHA:397612
HP:0000163	Abnormal oral cavity morphology	6473	SHOX	OMIM:127300
HP:0000163	Abnormal oral cavity morphology	6473	SHOX	ORPHA:314795
HP:0000163	Abnormal oral cavity morphology	6473	SHOX	ORPHA:2632
HP:0000163	Abnormal oral cavity morphology	84162	BLTP1	OMIM:617822
HP:0000163	Abnormal oral cavity morphology	5075	PAX1	ORPHA:2792
HP:0000163	Abnormal oral cavity morphology	25	ABL1	OMIM:617602
HP:0000163	Abnormal oral cavity morphology	9997	SCO2	OMIM:604377
HP:0000163	Abnormal oral cavity morphology	6182	MRPL12	OMIM:618951
HP:0000163	Abnormal oral cavity morphology	60482	SLC5A7	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	4649	MYO9A	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	1103	CHAT	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	6576	SLC25A1	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	6843	VAMP1	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	375790	AGRN	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	375790	AGRN	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	375790	AGRN	OMIM:615120
HP:0000163	Abnormal oral cavity morphology	6616	SNAP25	ORPHA:98914
HP:0000163	Abnormal oral cavity morphology	8292	COLQ	ORPHA:98915
HP:0000163	Abnormal oral cavity morphology	3913	LAMB2	ORPHA:98915
HP:0000163	Abnormal oral cavity morphology	1140	CHRNB1	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	1140	CHRNB1	OMIM:616313
HP:0000163	Abnormal oral cavity morphology	221264	AK9	ORPHA:98913
HP:0000163	Abnormal oral cavity morphology	26503	SLC17A5	OMIM:269920
HP:0000163	Abnormal oral cavity morphology	79875	THSD4	OMIM:619825
HP:0000163	Abnormal oral cavity morphology	9853	RUSC2	OMIM:617773
HP:0000163	Abnormal oral cavity morphology	10381	TUBB3	ORPHA:300570
HP:0000163	Abnormal oral cavity morphology	85365	ALG2	OMIM:616228
HP:0000163	Abnormal oral cavity morphology	85365	ALG2	OMIM:607906
HP:0000163	Abnormal oral cavity morphology	85365	ALG2	ORPHA:353327
HP:0000163	Abnormal oral cavity morphology	2626	GATA4	ORPHA:251071
HP:0000163	Abnormal oral cavity morphology	1656	DDX6	OMIM:618653
HP:0000163	Abnormal oral cavity morphology	1501	CTNND2	ORPHA:281
HP:0000163	Abnormal oral cavity morphology	9037	SEMA5A	ORPHA:281
HP:0000163	Abnormal oral cavity morphology	88	ACTN2	OMIM:618654
HP:0000163	Abnormal oral cavity morphology	4632	MYL1	OMIM:618414
HP:0000163	Abnormal oral cavity morphology	84665	MYPN	OMIM:617336
HP:0000163	Abnormal oral cavity morphology	84665	MYPN	ORPHA:171881
HP:0000163	Abnormal oral cavity morphology	84665	MYPN	ORPHA:171439
HP:0000163	Abnormal oral cavity morphology	286	ANK1	ORPHA:251066
HP:0000163	Abnormal oral cavity morphology	7841	MOGS	ORPHA:79330
HP:0000163	Abnormal oral cavity morphology	7841	MOGS	OMIM:606056
HP:0000163	Abnormal oral cavity morphology	2271	FH	OMIM:606812
HP:0000163	Abnormal oral cavity morphology	3897	L1CAM	OMIM:304100
HP:0000163	Abnormal oral cavity morphology	973	CD79A	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	974	CD79B	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	3543	IGLL1	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	3507	IGHM	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	29760	BLNK	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	56262	LRRC8A	ORPHA:33110
HP:0000163	Abnormal oral cavity morphology	56262	LRRC8A	OMIM:613506
HP:0000163	Abnormal oral cavity morphology	353116	RILPL1	OMIM:619790
HP:0000163	Abnormal oral cavity morphology	84706	GPT2	OMIM:616281
HP:0000163	Abnormal oral cavity morphology	10466	COG5	ORPHA:263487
HP:0000163	Abnormal oral cavity morphology	2530	FUT8	OMIM:618005
HP:0000163	Abnormal oral cavity morphology	9451	EIF2AK3	OMIM:226980
HP:0000163	Abnormal oral cavity morphology	5283	PIGH	OMIM:618010
HP:0000163	Abnormal oral cavity morphology	84896	ATAD1	OMIM:618011
HP:0000163	Abnormal oral cavity morphology	57187	THOC2	ORPHA:457240
HP:0000163	Abnormal oral cavity morphology	668	FOXL2	OMIM:110100
HP:0000163	Abnormal oral cavity morphology	23154	NCDN	OMIM:619373
HP:0000163	Abnormal oral cavity morphology	2733	GLE1	OMIM:611890
HP:0000163	Abnormal oral cavity morphology	1795	DOCK3	OMIM:618292
HP:0000163	Abnormal oral cavity morphology	4702	NDUFA8	OMIM:619272
HP:0000163	Abnormal oral cavity morphology	4574	MT-TS1	OMIM:220110
HP:0000163	Abnormal oral cavity morphology	4570	MT-TN	OMIM:220110
HP:0000163	Abnormal oral cavity morphology	6834	SURF1	OMIM:220110
HP:0000163	Abnormal oral cavity morphology	1119	CHKA	OMIM:620023
HP:0000163	Abnormal oral cavity morphology	23118	TAB2	ORPHA:228410
HP:0000163	Abnormal oral cavity morphology	56203	LMOD3	ORPHA:171436
HP:0000163	Abnormal oral cavity morphology	1798	DPAGT1	ORPHA:353327
HP:0000163	Abnormal oral cavity morphology	199857	ALG14	ORPHA:353327
HP:0000163	Abnormal oral cavity morphology	84987	COX14	OMIM:619053
HP:0000163	Abnormal oral cavity morphology	1339	COX6A2	OMIM:619062
HP:0000163	Abnormal oral cavity morphology	3679	ITGA7	ORPHA:2020
HP:0000163	Abnormal oral cavity morphology	9200	HACD1	ORPHA:2020
HP:0000163	Abnormal oral cavity morphology	51776	MAP3K20	ORPHA:2020
HP:0000163	Abnormal oral cavity morphology	390594	KBTBD13	ORPHA:171439
HP:0000163	Abnormal oral cavity morphology	50628	GEMIN4	OMIM:617913
HP:0000163	Abnormal oral cavity morphology	9698	PUM1	OMIM:617931
HP:0000163	Abnormal oral cavity morphology	5859	QARS1	OMIM:615760
HP:0000163	Abnormal oral cavity morphology	3313	HSPA9	OMIM:616854
HP:0000163	Abnormal oral cavity morphology	10525	HYOU1	OMIM:233600
HP:0000163	Abnormal oral cavity morphology	10157	AASS	ORPHA:2203
HP:0000163	Abnormal oral cavity morphology	30008	EFEMP2	OMIM:614437
HP:0000163	Abnormal oral cavity morphology	26224	FBXL3	OMIM:606220
HP:0000163	Abnormal oral cavity morphology	23511	NUP188	OMIM:618804
HP:0000163	Abnormal oral cavity morphology	8405	SPOP	OMIM:618829
HP:0000163	Abnormal oral cavity morphology	200205	IBA57	OMIM:615330
HP:0000163	Abnormal oral cavity morphology	57731	SPTBN4	OMIM:617519
HP:0000163	Abnormal oral cavity morphology	6736	SRY	ORPHA:1772
HP:0000163	Abnormal oral cavity morphology	55753	OGDHL	OMIM:619701
HP:0000163	Abnormal oral cavity morphology	9990	SLC12A6	OMIM:218000
HP:0000163	Abnormal oral cavity morphology	104	ADARB1	OMIM:618862
HP:0000163	Abnormal oral cavity morphology	3703	STT3A	OMIM:619714
HP:0000163	Abnormal oral cavity morphology	4983	OPHN1	OMIM:300486
HP:0000163	Abnormal oral cavity morphology	10026	PIGK	OMIM:618879
HP:0000163	Abnormal oral cavity morphology	10978	CLP1	OMIM:615803
HP:0000163	Abnormal oral cavity morphology	23325	WASHC4	OMIM:615817
HP:0000163	Abnormal oral cavity morphology	79087	ALG12	OMIM:607143
HP:0000163	Abnormal oral cavity morphology	79087	ALG12	ORPHA:79324
HP:0000163	Abnormal oral cavity morphology	51651	PTRH2	ORPHA:456312
HP:0000163	Abnormal oral cavity morphology	51651	PTRH2	OMIM:616263
HP:0000163	Abnormal oral cavity morphology	23036	ZNF292	OMIM:619188
HP:0000163	Abnormal oral cavity morphology	4953	ODC1	OMIM:619075
HP:0000163	Abnormal oral cavity morphology	3098	HK1	OMIM:618547
HP:0000163	Abnormal oral cavity morphology	53335	BCL11A	OMIM:617101
HP:0000163	Abnormal oral cavity morphology	92002	CCNQ	ORPHA:140952
HP:0000163	Abnormal oral cavity morphology	92002	CCNQ	OMIM:300707
HP:0000163	Abnormal oral cavity morphology	81887	LAS1L	ORPHA:3459
HP:0000163	Abnormal oral cavity morphology	10472	ZBTB18	OMIM:612337
HP:0000163	Abnormal oral cavity morphology	1523	CUX1	OMIM:618330
HP:0000163	Abnormal oral cavity morphology	6857	SYT1	OMIM:618218
HP:0000163	Abnormal oral cavity morphology	6857	SYT1	ORPHA:522077
HP:0000163	Abnormal oral cavity morphology	55628	ZNF407	OMIM:619557
HP:0000163	Abnormal oral cavity morphology	7681	MKRN3	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	3653	IPW	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	791114	PWRN1	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	100033413	SNORD116-1	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	145624	PWAR1	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	23742	NPAP1	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	338433	SNORD115-1	OMIM:176270
HP:0000163	Abnormal oral cavity morphology	6492	SIM1	ORPHA:398079
HP:0000163	Abnormal oral cavity morphology	1725	DHPS	OMIM:618480
HP:0000163	Abnormal oral cavity morphology	4692	NDN	ORPHA:177901
HP:0000163	Abnormal oral cavity morphology	57211	ADGRG6	OMIM:616503
HP:0000163	Abnormal oral cavity morphology	5718	PSMD12	ORPHA:529962
HP:0000163	Abnormal oral cavity morphology	83696	TRAPPC9	ORPHA:352530
HP:0000163	Abnormal oral cavity morphology	63932	STEEP1	OMIM:301013
HP:0000163	Abnormal oral cavity morphology	23112	TNRC6B	OMIM:619243
HP:0000163	Abnormal oral cavity morphology	10551	AGR2	OMIM:620233
HP:0000163	Abnormal oral cavity morphology	55252	ASXL2	OMIM:617190
HP:0000163	Abnormal oral cavity morphology	57020	VPS35L	OMIM:619135
HP:0000163	Abnormal oral cavity morphology	178	AGL	OMIM:232400
HP:0000163	Abnormal oral cavity morphology	4848	CNOT2	OMIM:618608
HP:0000163	Abnormal oral cavity morphology	10079	ATP9A	OMIM:620242
HP:0000163	Abnormal oral cavity morphology	9276	COPB2	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	284403	WDR62	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	55262	TRAPPC14	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	163786	SASS6	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	84879	MFSD2A	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	4176	MCM7	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	80254	CEP63	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	23310	NCAPD3	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	55755	CDK5RAP2	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	79648	MCPH1	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	259266	ASPM	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	7109	TRAPPC10	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	1911	PHC1	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	6884	TAF13	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	9662	CEP135	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	57082	KNL1	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	1021	CDK6	ORPHA:2512
HP:0000163	Abnormal oral cavity morphology	84617	TUBB6	OMIM:617732
HP:0000163	Abnormal oral cavity morphology	8242	KDM5C	OMIM:300534
HP:0000163	Abnormal oral cavity morphology	8518	ELP1	OMIM:223900
HP:0000163	Abnormal oral cavity morphology	54463	RETREG1	OMIM:201300
HP:0000163	Abnormal oral cavity morphology	65125	WNK1	OMIM:201300
HP:0000163	Abnormal oral cavity morphology	6335	SCN9A	OMIM:201300
HP:0000163	Abnormal oral cavity morphology	3674	ITGA2B	OMIM:273800
HP:0000163	Abnormal oral cavity morphology	3674	ITGA2B	ORPHA:849
HP:0000163	Abnormal oral cavity morphology	2811	GP1BA	OMIM:153670
HP:0000163	Abnormal oral cavity morphology	2811	GP1BA	ORPHA:274
HP:0000163	Abnormal oral cavity morphology	2811	GP1BA	OMIM:231200
HP:0000163	Abnormal oral cavity morphology	7454	WAS	OMIM:301000
HP:0000163	Abnormal oral cavity morphology	7454	WAS	ORPHA:906
HP:0000163	Abnormal oral cavity morphology	2815	GP9	ORPHA:274
HP:0000163	Abnormal oral cavity morphology	2815	GP9	OMIM:231200
HP:0000163	Abnormal oral cavity morphology	2243	FGA	OMIM:202400
HP:0000163	Abnormal oral cavity morphology	2243	FGA	ORPHA:98880
HP:0000163	Abnormal oral cavity morphology	2243	FGA	ORPHA:98881
HP:0000163	Abnormal oral cavity morphology	2243	FGA	ORPHA:101041
HP:0000163	Abnormal oral cavity morphology	2244	FGB	OMIM:202400
HP:0000163	Abnormal oral cavity morphology	2244	FGB	ORPHA:98880
HP:0000163	Abnormal oral cavity morphology	2244	FGB	ORPHA:98881
HP:0000163	Abnormal oral cavity morphology	2244	FGB	ORPHA:101041
HP:0000163	Abnormal oral cavity morphology	2266	FGG	OMIM:202400
HP:0000163	Abnormal oral cavity morphology	2266	FGG	ORPHA:98880
HP:0000163	Abnormal oral cavity morphology	2266	FGG	ORPHA:98881
HP:0000163	Abnormal oral cavity morphology	2266	FGG	ORPHA:101041
HP:0000163	Abnormal oral cavity morphology	10068	IL18BP	OMIM:618549
HP:0000163	Abnormal oral cavity morphology	3257	HPS1	OMIM:203300
HP:0000163	Abnormal oral cavity morphology	7456	WIPF1	ORPHA:906
HP:0000163	Abnormal oral cavity morphology	5345	SERPINF2	ORPHA:79
HP:0000163	Abnormal oral cavity morphology	84343	HPS3	OMIM:614072
HP:0000163	Abnormal oral cavity morphology	388552	BLOC1S3	OMIM:614077
HP:0000163	Abnormal oral cavity morphology	3998	LMAN1	ORPHA:35909
HP:0000163	Abnormal oral cavity morphology	90411	MCFD2	ORPHA:35909
HP:0000163	Abnormal oral cavity morphology	2162	F13A1	OMIM:613225
HP:0000163	Abnormal oral cavity morphology	2162	F13A1	ORPHA:331
HP:0000163	Abnormal oral cavity morphology	2165	F13B	ORPHA:331
HP:0000163	Abnormal oral cavity morphology	9493	KIF23	ORPHA:98870
HP:0000163	Abnormal oral cavity morphology	29127	RACGAP1	ORPHA:98870
HP:0000163	Abnormal oral cavity morphology	63915	BLOC1S5	OMIM:619172
HP:0000163	Abnormal oral cavity morphology	5551	PRF1	ORPHA:88
HP:0000163	Abnormal oral cavity morphology	2159	F10	OMIM:227600
HP:0000163	Abnormal oral cavity morphology	2159	F10	ORPHA:328
HP:0000163	Abnormal oral cavity morphology	2157	F8	ORPHA:169805
HP:0000163	Abnormal oral cavity morphology	4352	MPL	ORPHA:729
HP:0000163	Abnormal oral cavity morphology	3717	JAK2	ORPHA:729
HP:0000163	Abnormal oral cavity morphology	54790	TET2	ORPHA:729
HP:0000163	Abnormal oral cavity morphology	3690	ITGB3	ORPHA:849
HP:0000163	Abnormal oral cavity morphology	2147	F2	OMIM:613679
HP:0000163	Abnormal oral cavity morphology	9103	FCGR2C	ORPHA:3002
HP:0000163	Abnormal oral cavity morphology	2155	F7	ORPHA:327
HP:0000163	Abnormal oral cavity morphology	2153	F5	ORPHA:326
HP:0000163	Abnormal oral cavity morphology	4615	MYD88	ORPHA:33226
HP:0000163	Abnormal oral cavity morphology	950	SCARB2	ORPHA:77259
HP:0000163	Abnormal oral cavity morphology	340024	SLC6A19	ORPHA:2116
HP:0000163	Abnormal oral cavity morphology	57393	CLTRN	ORPHA:2116
HP:0000163	Abnormal oral cavity morphology	6785	ELOVL4	OMIM:614457
HP:0000163	Abnormal oral cavity morphology	54809	SAMD9	OMIM:610455
HP:0000163	Abnormal oral cavity morphology	1536	CYBB	ORPHA:379
HP:0000163	Abnormal oral cavity morphology	4688	NCF2	ORPHA:379
HP:0000163	Abnormal oral cavity morphology	1535	CYBA	ORPHA:379
HP:0000163	Abnormal oral cavity morphology	4689	NCF4	ORPHA:379
HP:0000163	Abnormal oral cavity morphology	26235	FBXL4	OMIM:615471
HP:0000163	Abnormal oral cavity morphology	2296	FOXC1	ORPHA:782
HP:0000163	Abnormal oral cavity morphology	4190	MDH1	OMIM:618959
HP:0000163	Abnormal oral cavity morphology	57192	MCOLN1	ORPHA:578
HP:0000163	Abnormal oral cavity morphology	5080	PAX6	ORPHA:893
HP:0000163	Abnormal oral cavity morphology	627	BDNF	ORPHA:893
HP:0000163	Abnormal oral cavity morphology	7490	WT1	ORPHA:893
HP:0000163	Abnormal oral cavity morphology	79989	IFT56	OMIM:619534
HP:0000163	Abnormal oral cavity morphology	138050	HGSNAT	OMIM:252930
HP:0000163	Abnormal oral cavity morphology	65992	DDRGK1	OMIM:602557
HP:0000163	Abnormal oral cavity morphology	50651	SLC45A1	OMIM:617532
HP:0000163	Abnormal oral cavity morphology	10765	KDM5B	OMIM:618109
HP:0000163	Abnormal oral cavity morphology	9526	MPDU1	OMIM:609180
HP:0000163	Abnormal oral cavity morphology	9526	MPDU1	ORPHA:79323
HP:0000163	Abnormal oral cavity morphology	7518	XRCC4	ORPHA:99812
HP:0000163	Abnormal oral cavity morphology	137814	NKX2-6	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	23414	ZFPM2	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	3791	KDR	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	2627	GATA6	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	2657	GDF1	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	182	JAG1	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	140628	GATA5	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	2324	FLT4	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	10370	CITED2	ORPHA:3303
HP:0000163	Abnormal oral cavity morphology	90161	HS6ST2	OMIM:301025
HP:0000163	Abnormal oral cavity morphology	9692	PRORP	OMIM:619737
HP:0000163	Abnormal oral cavity morphology	2752	GLUL	OMIM:610015
HP:0000163	Abnormal oral cavity morphology	2332	FMR1	ORPHA:261483
HP:0000163	Abnormal oral cavity morphology	8815	BANF1	OMIM:614008
HP:0000163	Abnormal oral cavity morphology	4693	NDP	ORPHA:649
HP:0000163	Abnormal oral cavity morphology	56052	ALG1	OMIM:608540
HP:0000163	Abnormal oral cavity morphology	54872	PIGG	ORPHA:280
HP:0000163	Abnormal oral cavity morphology	7469	NELFA	ORPHA:280
HP:0000163	Abnormal oral cavity morphology	6711	SPTBN1	OMIM:619475
HP:0000163	Abnormal oral cavity morphology	55107	ANO1	OMIM:620045
HP:0000163	Abnormal oral cavity morphology	79718	TBL1XR1	OMIM:602342
HP:0000163	Abnormal oral cavity morphology	79718	TBL1XR1	ORPHA:487825
HP:0000163	Abnormal oral cavity morphology	5881	RAC3	OMIM:618577
HP:0000163	Abnormal oral cavity morphology	55780	ERMARD	ORPHA:75857
HP:0000163	Abnormal oral cavity morphology	10087	CERT1	OMIM:616351
HP:0000163	Abnormal oral cavity morphology	22884	WDR37	OMIM:618652
HP:0000163	Abnormal oral cavity morphology	5792	PTPRF	OMIM:616001
HP:0000163	Abnormal oral cavity morphology	285362	SUMF1	ORPHA:585
HP:0000163	Abnormal oral cavity morphology	8943	AP3D1	OMIM:617050
HP:0000163	Abnormal oral cavity morphology	84265	POLR3GL	OMIM:619234
HP:0000163	Abnormal oral cavity morphology	5052	PRDX1	OMIM:277400
HP:0000163	Abnormal oral cavity morphology	10559	SLC35A1	OMIM:603585
HP:0000163	Abnormal oral cavity morphology	26038	CHD5	OMIM:619873
HP:0000163	Abnormal oral cavity morphology	4849	CNOT3	OMIM:618672
HP:0000163	Abnormal oral cavity morphology	3658	IREB2	OMIM:618451
HP:0000163	Abnormal oral cavity morphology	29926	GMPPA	OMIM:615510
HP:0000163	Abnormal oral cavity morphology	5702	PSMC3	OMIM:619354
HP:0000163	Abnormal oral cavity morphology	51317	PHF21A	ORPHA:52022
HP:0000163	Abnormal oral cavity morphology	83737	ITCH	OMIM:613385
HP:0000163	Abnormal oral cavity morphology	2893	GRIA4	OMIM:617864
HP:0000163	Abnormal oral cavity morphology	11043	MID2	OMIM:300928
HP:0000163	Abnormal oral cavity morphology	2036	EPB41L1	OMIM:614257
HP:0000163	Abnormal oral cavity morphology	51399	TRAPPC4	OMIM:618741
HP:0000163	Abnormal oral cavity morphology	28981	IFT81	OMIM:617895
HP:0000163	Abnormal oral cavity morphology	8425	LTBP4	OMIM:613177
HP:0000163	Abnormal oral cavity morphology	7360	UGP2	OMIM:618744
HP:0000163	Abnormal oral cavity morphology	3021	H3-3B	OMIM:619721
HP:0000163	Abnormal oral cavity morphology	51741	WWOX	OMIM:616211
HP:0000163	Abnormal oral cavity morphology	55790	CSGALNACT1	OMIM:618870
HP:0000163	Abnormal oral cavity morphology	79868	ALG13	ORPHA:324422
HP:0000163	Abnormal oral cavity morphology	818	CAMK2G	OMIM:618522
HP:0000163	Abnormal oral cavity morphology	79184	BRCC3	ORPHA:280679
HP:0000163	Abnormal oral cavity morphology	55714	TENM3	OMIM:615145
HP:0000163	Abnormal oral cavity morphology	55012	PPP2R3C	OMIM:618419
HP:0000163	Abnormal oral cavity morphology	1499	CTNNB1	ORPHA:404473
HP:0000163	Abnormal oral cavity morphology	1499	CTNNB1	OMIM:615075
HP:0000163	Abnormal oral cavity morphology	29081	METTL5	OMIM:618665
HP:0000163	Abnormal oral cavity morphology	51633	OTUD6B	OMIM:617452
HP:0000163	Abnormal oral cavity morphology	51633	OTUD6B	ORPHA:505237
HP:0000163	Abnormal oral cavity morphology	2683	B4GALT1	ORPHA:79332
HP:0000163	Abnormal oral cavity morphology	84188	FAR1	OMIM:616154
HP:0000163	Abnormal oral cavity morphology	84188	FAR1	ORPHA:438178
HP:0000163	Abnormal oral cavity morphology	4921	DDR2	OMIM:271665
HP:0000163	Abnormal oral cavity morphology	30000	TNPO2	OMIM:619556
HP:0000163	Abnormal oral cavity morphology	3417	IDH1	ORPHA:99646
HP:0000163	Abnormal oral cavity morphology	16	AARS1	OMIM:619691
HP:0000163	Abnormal oral cavity morphology	54496	PRMT7	OMIM:617157
HP:0000163	Abnormal oral cavity morphology	54496	PRMT7	ORPHA:464288
HP:0000163	Abnormal oral cavity morphology	10082	GPC6	OMIM:258315
HP:0000163	Abnormal oral cavity morphology	10082	GPC6	ORPHA:93329
HP:0000163	Abnormal oral cavity morphology	551	AVP	OMIM:125700
HP:0000163	Abnormal oral cavity morphology	5831	PYCR1	OMIM:612940
HP:0000163	Abnormal oral cavity morphology	29920	PYCR2	ORPHA:481152
HP:0000163	Abnormal oral cavity morphology	29920	PYCR2	OMIM:616420
HP:0000163	Abnormal oral cavity morphology	164	AP1G1	OMIM:619467
HP:0000163	Abnormal oral cavity morphology	11212	PLPBP	OMIM:617290
HP:0000163	Abnormal oral cavity morphology	8812	CCNK	OMIM:618147
HP:0000163	Abnormal oral cavity morphology	440138	ALG11	ORPHA:280071
HP:0000163	Abnormal oral cavity morphology	4781	NFIB	OMIM:618286
HP:0000163	Abnormal oral cavity morphology	51594	NBAS	OMIM:614800
HP:0000163	Abnormal oral cavity morphology	3295	HSD17B4	OMIM:261515
HP:0000163	Abnormal oral cavity morphology	55901	THSD1	OMIM:620244
HP:0000163	Abnormal oral cavity morphology	84842	HPDL	OMIM:619026
HP:0000163	Abnormal oral cavity morphology	6309	SC5D	ORPHA:46059
HP:0000163	Abnormal oral cavity morphology	6309	SC5D	OMIM:607330
HP:0000163	Abnormal oral cavity morphology	25782	RAB3GAP2	OMIM:212720
HP:0000163	Abnormal oral cavity morphology	1185	CLCN6	OMIM:619173
HP:0000163	Abnormal oral cavity morphology	55148	UBR7	OMIM:619189
HP:0000163	Abnormal oral cavity morphology	23265	EXOC7	OMIM:619072
HP:0000163	Abnormal oral cavity morphology	51660	MPC1	OMIM:614741
HP:0000163	Abnormal oral cavity morphology	23345	SYNE1	ORPHA:319332
HP:0000163	Abnormal oral cavity morphology	55719	SLF2	OMIM:620184
HP:0000163	Abnormal oral cavity morphology	283209	PGM2L1	OMIM:620191
HP:0000163	Abnormal oral cavity morphology	5591	PRKDC	OMIM:615966
HP:0000163	Abnormal oral cavity morphology	80324	PUS1	ORPHA:2598
HP:0000163	Abnormal oral cavity morphology	51067	YARS2	ORPHA:2598
HP:0000163	Abnormal oral cavity morphology	28962	OSTM1	OMIM:259720
HP:0000163	Abnormal oral cavity morphology	55023	PHIP	ORPHA:589905
HP:0000163	Abnormal oral cavity morphology	55023	PHIP	OMIM:617991
HP:0000163	Abnormal oral cavity morphology	10586	MAB21L2	OMIM:615877
HP:0000163	Abnormal oral cavity morphology	85358	SHANK3	OMIM:606232
HP:0000163	Abnormal oral cavity morphology	5160	PDHA1	OMIM:312170
HP:0000163	Abnormal oral cavity morphology	169792	GLIS3	OMIM:610199
HP:0000163	Abnormal oral cavity morphology	79731	NARS2	ORPHA:79134
HP:0000163	Abnormal oral cavity morphology	5053	PAH	ORPHA:2209
HP:0000163	Abnormal oral cavity morphology	84679	SLC9A7	OMIM:301024
HP:0000163	Abnormal oral cavity morphology	10352	WARS2	OMIM:617710
HP:0000163	Abnormal oral cavity morphology	1000	CDH2	OMIM:618929
HP:0000163	Abnormal oral cavity morphology	1861	TOR1A	OMIM:618947
HP:0000163	Abnormal oral cavity morphology	4659	PPP1R12A	OMIM:618820
HP:0000163	Abnormal oral cavity morphology	91461	PKDCC	OMIM:618821
HP:0000163	Abnormal oral cavity morphology	28957	MRPS28	OMIM:618958
HP:0000163	Abnormal oral cavity morphology	113246	C12orf57	OMIM:218340
HP:0000163	Abnormal oral cavity morphology	6591	SNAI2	ORPHA:2884
HP:0000163	Abnormal oral cavity morphology	3815	KIT	ORPHA:2884
HP:0000163	Abnormal oral cavity morphology	523	ATP6V1A	ORPHA:357074
HP:0000163	Abnormal oral cavity morphology	84700	MYO18B	OMIM:616549
HP:0000163	Abnormal oral cavity morphology	23404	EXOSC2	OMIM:617763
HP:0000163	Abnormal oral cavity morphology	92935	MARS2	OMIM:616430
HP:0000163	Abnormal oral cavity morphology	22861	NLRP1	OMIM:615225
HP:0000163	Abnormal oral cavity morphology	9181	ARHGEF2	OMIM:617523
HP:0000163	Abnormal oral cavity morphology	10749	KIF1C	ORPHA:397946
HP:0000163	Abnormal oral cavity morphology	51728	POLR3K	OMIM:619310
HP:0000163	Abnormal oral cavity morphology	51	ACOX1	ORPHA:2971
HP:0000163	Abnormal oral cavity morphology	55593	OTUD5	OMIM:301056
HP:0000163	Abnormal oral cavity morphology	387119	CEP85L	OMIM:618873
HP:0000163	Abnormal oral cavity morphology	6926	TBX3	ORPHA:3138
HP:0000163	Abnormal oral cavity morphology	6926	TBX3	OMIM:181450
HP:0000163	Abnormal oral cavity morphology	3737	KCNA2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	8120	AP3B2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	10991	SLC38A3	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	51343	FZR1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	22906	TRAK1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2566	GABRG2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2561	GABRB2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	7532	YWHAG	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	79876	UBA5	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	6328	SCN3A	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2558	GABRA5	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2906	GRIN2D	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	116150	NUS1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	10659	CELF2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	774	CACNA1B	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	23334	SZT2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	348980	HCN1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	8867	SYNJ1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2258	FGF13	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	3745	KCNB1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	25977	NECAP1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	6334	SCN8A	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	22866	CNKSR2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	9568	GABBR2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2555	GABRA2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	55152	DALRD3	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	4915	NTRK2	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	64801	ARV1	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	79947	DHDDS	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	2257	FGF12	ORPHA:442835
HP:0000163	Abnormal oral cavity morphology	11342	RNF13	ORPHA:544503
HP:0000163	Abnormal oral cavity morphology	229	ALDOB	OMIM:229600
HP:0000163	Abnormal oral cavity morphology	84701	COX4I2	OMIM:612714
HP:0000163	Abnormal oral cavity morphology	8643	PTCH2	ORPHA:377
HP:0000163	Abnormal oral cavity morphology	166929	SGMS2	OMIM:126550
HP:0000163	Abnormal oral cavity morphology	1235	CCR6	ORPHA:220393
HP:0000163	Abnormal oral cavity morphology	1490	CCN2	ORPHA:220393
HP:0000163	Abnormal oral cavity morphology	3663	IRF5	ORPHA:220393
HP:0000163	Abnormal oral cavity morphology	80067	DCAF17	OMIM:241080
HP:0000163	Abnormal oral cavity morphology	80067	DCAF17	ORPHA:3464
HP:0000163	Abnormal oral cavity morphology	10667	FARS2	ORPHA:466722
HP:0000163	Abnormal oral cavity morphology	25871	NEPRO	OMIM:618853
HP:0000163	Abnormal oral cavity morphology	56172	ANKH	OMIM:123000
HP:0000163	Abnormal oral cavity morphology	9895	TECPR2	OMIM:615031
HP:0000163	Abnormal oral cavity morphology	9895	TECPR2	ORPHA:320385
HP:0000163	Abnormal oral cavity morphology	57498	KIDINS220	OMIM:617296
HP:0000163	Abnormal oral cavity morphology	284361	EMC10	OMIM:619264
HP:0000163	Abnormal oral cavity morphology	816	CAMK2B	OMIM:617799
HP:0000163	Abnormal oral cavity morphology	10083	USH1C	ORPHA:231169
HP:0000163	Abnormal oral cavity morphology	124590	USH1G	ORPHA:231169
HP:0000163	Abnormal oral cavity morphology	83715	ESPN	ORPHA:231169
HP:0000163	Abnormal oral cavity morphology	10518	CIB2	ORPHA:231169
HP:0000163	Abnormal oral cavity morphology	65217	PCDH15	ORPHA:231169
HP:0000163	Abnormal oral cavity morphology	3479	IGF1	ORPHA:73272
HP:0000163	Abnormal oral cavity morphology	55703	POLR3B	OMIM:614381
HP:0000163	Abnormal oral cavity morphology	8200	GDF5	ORPHA:63442
HP:0000163	Abnormal oral cavity morphology	6821	SUOX	OMIM:272300
HP:0000163	Abnormal oral cavity morphology	54	ACP5	ORPHA:1855
HP:0000163	Abnormal oral cavity morphology	7040	TGFB1	ORPHA:1328
HP:0000163	Abnormal oral cavity morphology	60676	PAPPA2	OMIM:619489
HP:0000163	Abnormal oral cavity morphology	5744	PTHLH	OMIM:613382
HP:0000163	Abnormal oral cavity morphology	6506	SLC1A2	OMIM:617105
HP:0000163	Abnormal oral cavity morphology	26115	TANC2	OMIM:618906
HP:0000163	Abnormal oral cavity morphology	90	ACVR1	OMIM:135100
HP:0000163	Abnormal oral cavity morphology	3340	NDST1	OMIM:616116
HP:0000163	Abnormal oral cavity morphology	4677	NARS1	OMIM:619092
HP:0000163	Abnormal oral cavity morphology	7102	TSPAN7	OMIM:300210
HP:0000163	Abnormal oral cavity morphology	5130	PCYT1A	OMIM:608940
HP:0000163	Abnormal oral cavity morphology	5361	PLXNA1	OMIM:619955
HP:0000163	Abnormal oral cavity morphology	92255	LMBRD2	OMIM:619694
HP:0000163	Abnormal oral cavity morphology	341208	HEPHL1	OMIM:261990
HP:0000163	Abnormal oral cavity morphology	50964	SOST	OMIM:269500
HP:0000163	Abnormal oral cavity morphology	7407	VARS1	OMIM:617802
HP:0000163	Abnormal oral cavity morphology	4868	NPHS1	ORPHA:839
HP:0000163	Abnormal oral cavity morphology	4792	NFKBIA	OMIM:612132
HP:0000163	Abnormal oral cavity morphology	51109	RDH11	ORPHA:436245
HP:0000163	Abnormal oral cavity morphology	79879	CCDC134	OMIM:619795
HP:0000163	Abnormal oral cavity morphology	5034	P4HB	OMIM:112240
HP:0000163	Abnormal oral cavity morphology	10491	CRTAP	OMIM:610682
HP:0000163	Abnormal oral cavity morphology	5479	PPIB	OMIM:259440
HP:0000163	Abnormal oral cavity morphology	1278	COL1A2	OMIM:259420
HP:0000163	Abnormal oral cavity morphology	1278	COL1A2	OMIM:166220
HP:0000163	Abnormal oral cavity morphology	6678	SPARC	OMIM:616507
HP:0000163	Abnormal oral cavity morphology	387733	IFITM5	OMIM:610967
HP:0000163	Abnormal oral cavity morphology	9871	SEC24D	OMIM:616294
HP:0000163	Abnormal oral cavity morphology	5176	SERPINF1	OMIM:613982
HP:0000163	Abnormal oral cavity morphology	649	BMP1	OMIM:614856
HP:0000163	Abnormal oral cavity morphology	871	SERPINH1	OMIM:613848
HP:0000163	Abnormal oral cavity morphology	64175	P3H1	OMIM:610915
HP:0000163	Abnormal oral cavity morphology	3689	ITGB2	OMIM:116920
HP:0000163	Abnormal oral cavity morphology	8546	AP3B1	OMIM:608233
HP:0000163	Abnormal oral cavity morphology	5340	PLG	ORPHA:722
HP:0000163	Abnormal oral cavity morphology	5340	PLG	OMIM:217090
HP:0000163	Abnormal oral cavity morphology	6603	SMARCD2	OMIM:617475
HP:0000163	Abnormal oral cavity morphology	84876	ORAI1	OMIM:612782
HP:0000163	Abnormal oral cavity morphology	6786	STIM1	OMIM:612783
HP:0000163	Abnormal oral cavity morphology	55858	TMEM165	OMIM:614727
HP:0000163	Abnormal oral cavity morphology	149461	CLDN19	OMIM:248190
HP:0000163	Abnormal oral cavity morphology	9131	AIFM1	ORPHA:238329
HP:0000163	Abnormal oral cavity morphology	9131	AIFM1	OMIM:300816
HP:0000163	Abnormal oral cavity morphology	10558	SPTLC1	OMIM:162400
HP:0000163	Abnormal oral cavity morphology	427	ASAH1	OMIM:159950
HP:0000163	Abnormal oral cavity morphology	6904	TBCD	OMIM:617193
HP:0000163	Abnormal oral cavity morphology	11340	EXOSC8	OMIM:616081
HP:0000163	Abnormal oral cavity morphology	11340	EXOSC8	ORPHA:2254
HP:0000163	Abnormal oral cavity morphology	23250	ATP11A	OMIM:619851
HP:0000163	Abnormal oral cavity morphology	5393	EXOSC9	OMIM:618065
HP:0000163	Abnormal oral cavity morphology	5393	EXOSC9	ORPHA:2254
HP:0000163	Abnormal oral cavity morphology	4724	NDUFS4	OMIM:252010
HP:0000163	Abnormal oral cavity morphology	7317	UBA1	ORPHA:1145
HP:0000163	Abnormal oral cavity morphology	7317	UBA1	OMIM:301830
HP:0000163	Abnormal oral cavity morphology	64856	VWA1	OMIM:619216
HP:0000163	Abnormal oral cavity morphology	55005	RMND1	OMIM:614922
HP:0000163	Abnormal oral cavity morphology	7415	VCP	ORPHA:329475
HP:0000163	Abnormal oral cavity morphology	23287	AGTPBP1	ORPHA:2254
HP:0000163	Abnormal oral cavity morphology	23287	AGTPBP1	OMIM:618276
HP:0000163	Abnormal oral cavity morphology	7443	VRK1	ORPHA:2254
HP:0000163	Abnormal oral cavity morphology	7443	VRK1	OMIM:607596
HP:0000163	Abnormal oral cavity morphology	6606	SMN1	OMIM:271150
HP:0000163	Abnormal oral cavity morphology	6606	SMN1	OMIM:253300
HP:0000163	Abnormal oral cavity morphology	6606	SMN1	OMIM:253400
HP:0000163	Abnormal oral cavity morphology	6606	SMN1	OMIM:253550
HP:0000163	Abnormal oral cavity morphology	8087	FXR1	OMIM:618822
HP:0000163	Abnormal oral cavity morphology	8087	FXR1	OMIM:618823
HP:0000163	Abnormal oral cavity morphology	6607	SMN2	OMIM:253400
HP:0000163	Abnormal oral cavity morphology	79581	SLC52A2	OMIM:614707
HP:0000163	Abnormal oral cavity morphology	112476	PRRT2	ORPHA:569
HP:0000163	Abnormal oral cavity morphology	54936	ADPRS	OMIM:618170
HP:0000163	Abnormal oral cavity morphology	7259	TSPYL1	OMIM:608800
HP:0000163	Abnormal oral cavity morphology	127833	SYT2	OMIM:619461
HP:0000163	Abnormal oral cavity morphology	400916	CHCHD10	ORPHA:276435
HP:0000163	Abnormal oral cavity morphology	89874	SLC25A21	OMIM:618811
HP:0000163	Abnormal oral cavity morphology	4359	MPZ	OMIM:145900
HP:0000163	Abnormal oral cavity morphology	5376	PMP22	OMIM:145900
HP:0000163	Abnormal oral cavity morphology	1959	EGR2	OMIM:145900
HP:0000163	Abnormal oral cavity morphology	57716	PRX	OMIM:145900
HP:0000163	Abnormal oral cavity morphology	158326	FREM1	OMIM:608980
HP:0000163	Abnormal oral cavity morphology	738	VPS51	OMIM:618606
HP:0000163	Abnormal oral cavity morphology	64388	GREM2	OMIM:617275
HP:0000163	Abnormal oral cavity morphology	9653	HS2ST1	OMIM:619194
HP:0000163	Abnormal oral cavity morphology	50801	KCNK4	OMIM:618381
HP:0000163	Abnormal oral cavity morphology	253738	EBF3	OMIM:617330
HP:0000163	Abnormal oral cavity morphology	8367	H4C5	OMIM:619950
HP:0000163	Abnormal oral cavity morphology	8294	H4C9	OMIM:619951
HP:0000163	Abnormal oral cavity morphology	94005	PIGS	OMIM:618143
HP:0000163	Abnormal oral cavity morphology	3572	IL6ST	OMIM:619750
HP:0000163	Abnormal oral cavity morphology	4683	NBN	OMIM:251260
HP:0000163	Abnormal oral cavity morphology	4683	NBN	ORPHA:647
HP:0000163	Abnormal oral cavity morphology	51126	NAA20	OMIM:619717
HP:0000163	Abnormal oral cavity morphology	6885	MAP3K7	OMIM:617137
HP:0000163	Abnormal oral cavity morphology	26053	AUTS2	OMIM:615834
HP:0000163	Abnormal oral cavity morphology	673	BRAF	OMIM:115150
HP:0000163	Abnormal oral cavity morphology	55627	SMPD4	OMIM:618622
HP:0000163	Abnormal oral cavity morphology	8818	DPM2	ORPHA:329178
HP:0000163	Abnormal oral cavity morphology	2131	EXT1	ORPHA:502
HP:0000163	Abnormal oral cavity morphology	55209	SETD5	ORPHA:404440
HP:0000163	Abnormal oral cavity morphology	7707	ZNF148	OMIM:617260
HP:0000163	Abnormal oral cavity morphology	4893	NRAS	OMIM:137550
HP:0000163	Abnormal oral cavity morphology	1806	DPYD	ORPHA:1675
HP:0000163	Abnormal oral cavity morphology	5500	PPP1CB	OMIM:617506
HP:0000163	Abnormal oral cavity morphology	5500	PPP1CB	ORPHA:2701
HP:0000163	Abnormal oral cavity morphology	64093	SMOC1	OMIM:206920
HP:0000163	Abnormal oral cavity morphology	9915	ARNT2	OMIM:615926
HP:0000163	Abnormal oral cavity morphology	6925	TCF4	OMIM:610954
HP:0000163	Abnormal oral cavity morphology	57231	SNX14	ORPHA:397709
HP:0000163	Abnormal oral cavity morphology	4626	MYH8	OMIM:158300
HP:0000163	Abnormal oral cavity morphology	4256	MGP	OMIM:245150
HP:0000163	Abnormal oral cavity morphology	114034	TOE1	OMIM:614969
HP:0000163	Abnormal oral cavity morphology	3339	HSPG2	OMIM:255800
HP:0000163	Abnormal oral cavity morphology	22856	CHSY1	OMIM:605282
HP:0000163	Abnormal oral cavity morphology	8726	EED	ORPHA:3447
HP:0000163	Abnormal oral cavity morphology	23512	SUZ12	ORPHA:3447
HP:0000163	Abnormal oral cavity morphology	2146	EZH2	ORPHA:3447
HP:0000163	Abnormal oral cavity morphology	7546	ZIC2	OMIM:609637
HP:0000163	Abnormal oral cavity morphology	6792	CDKL5	ORPHA:505652
HP:0000163	Abnormal oral cavity morphology	6261	RYR1	OMIM:619542
HP:0000163	Abnormal oral cavity morphology	3832	KIF11	OMIM:152950
HP:0000163	Abnormal oral cavity morphology	5087	PBX1	OMIM:617641
HP:0000163	Abnormal oral cavity morphology	5567	PRKACB	OMIM:619143
HP:0000163	Abnormal oral cavity morphology	26173	INTS1	OMIM:618571
HP:0000163	Abnormal oral cavity morphology	867	CBL	OMIM:613563
HP:0000163	Abnormal oral cavity morphology	8036	SHOC2	ORPHA:2701
HP:0000163	Abnormal oral cavity morphology	51025	PAM16	OMIM:613320
HP:0000163	Abnormal oral cavity morphology	4858	NOVA2	OMIM:618859
HP:0000163	Abnormal oral cavity morphology	7020	TFAP2A	ORPHA:1297
HP:0000163	Abnormal oral cavity morphology	2783	GNB2	OMIM:619503
HP:0000163	Abnormal oral cavity morphology	7319	UBE2A	ORPHA:163956
HP:0000163	Abnormal oral cavity morphology	196528	ARID2	OMIM:617808
HP:0000163	Abnormal oral cavity morphology	9343	EFTUD2	OMIM:610536
HP:0000163	Abnormal oral cavity morphology	6888	TALDO1	OMIM:606003
HP:0000163	Abnormal oral cavity morphology	5813	PURA	ORPHA:314655
HP:0000163	Abnormal oral cavity morphology	3192	HNRNPU	ORPHA:238769
HP:0000163	Abnormal oral cavity morphology	6595	SMARCA2	OMIM:619293
HP:0000163	Abnormal oral cavity morphology	2239	GPC4	OMIM:301026
HP:0000163	Abnormal oral cavity morphology	2239	GPC4	ORPHA:2662
HP:0000163	Abnormal oral cavity morphology	5898	RALA	OMIM:619311
HP:0000163	Abnormal oral cavity morphology	7355	SLC35A2	OMIM:300896
HP:0000163	Abnormal oral cavity morphology	1182	CLCN3	OMIM:619512
HP:0000163	Abnormal oral cavity morphology	9320	TRIP12	OMIM:617752
HP:0000163	Abnormal oral cavity morphology	51604	PIGT	ORPHA:369837
HP:0000163	Abnormal oral cavity morphology	145173	B3GLCT	OMIM:261540
HP:0000163	Abnormal oral cavity morphology	145173	B3GLCT	ORPHA:709
HP:0000163	Abnormal oral cavity morphology	6659	SOX4	OMIM:618506
HP:0000163	Abnormal oral cavity morphology	81857	MED25	ORPHA:464738
HP:0000163	Abnormal oral cavity morphology	1788	DNMT3A	OMIM:615879
HP:0000163	Abnormal oral cavity morphology	4897	NRCAM	OMIM:619833
HP:0000163	Abnormal oral cavity morphology	93627	TBCK	OMIM:616900
HP:0000163	Abnormal oral cavity morphology	79753	SNIP1	OMIM:614501
HP:0000163	Abnormal oral cavity morphology	773	CACNA1A	ORPHA:2131
HP:0000163	Abnormal oral cavity morphology	6507	SLC1A3	ORPHA:2131
HP:0000163	Abnormal oral cavity morphology	477	ATP1A2	ORPHA:2131
HP:0000163	Abnormal oral cavity morphology	478	ATP1A3	ORPHA:2131
HP:0000163	Abnormal oral cavity morphology	64359	NXN	ORPHA:1507
HP:0000163	Abnormal oral cavity morphology	4920	ROR2	ORPHA:1507
HP:0000163	Abnormal oral cavity morphology	3190	HNRNPK	ORPHA:352665
HP:0000163	Abnormal oral cavity morphology	3190	HNRNPK	ORPHA:453504
HP:0000163	Abnormal oral cavity morphology	11198	SUPT16H	OMIM:619480
HP:0000163	Abnormal oral cavity morphology	374654	KIF7	OMIM:200990
HP:0000163	Abnormal oral cavity morphology	3020	H3-3A	OMIM:619720
HP:0000163	Abnormal oral cavity morphology	388015	RTL1	ORPHA:254528
HP:0000163	Abnormal oral cavity morphology	8788	DLK1	ORPHA:254528
HP:0000163	Abnormal oral cavity morphology	55384	MEG3	ORPHA:254528
HP:0000163	Abnormal oral cavity morphology	9442	MED27	OMIM:619286
HP:0000163	Abnormal oral cavity morphology	57178	ZMIZ1	OMIM:618659
HP:0000163	Abnormal oral cavity morphology	9772	TMEM94	OMIM:618316
HP:0000163	Abnormal oral cavity morphology	55770	EXOC2	OMIM:619306
HP:0000163	Abnormal oral cavity morphology	3720	JARID2	OMIM:620098
HP:0000163	Abnormal oral cavity morphology	58499	ZNF462	OMIM:618619
HP:0000163	Abnormal oral cavity morphology	4297	KMT2A	OMIM:605130
HP:0000163	Abnormal oral cavity morphology	161742	SPRED1	OMIM:611431
HP:0000163	Abnormal oral cavity morphology	58	ACTA1	ORPHA:171433
HP:0000163	Abnormal oral cavity morphology	7170	TPM3	ORPHA:171433
HP:0000163	Abnormal oral cavity morphology	137682	NDUFAF6	OMIM:618239
HP:0000163	Abnormal oral cavity morphology	26153	KIF26A	OMIM:620156
HP:0000163	Abnormal oral cavity morphology	57551	TAOK1	OMIM:619575
HP:0000163	Abnormal oral cavity morphology	8888	MCM3AP	OMIM:618124
HP:0000163	Abnormal oral cavity morphology	4141	MARS1	OMIM:619692
HP:0000163	Abnormal oral cavity morphology	1272	CNTN1	OMIM:612540
HP:0000163	Abnormal oral cavity morphology	84100	ARL6	OMIM:209900
HP:0000163	Abnormal oral cavity morphology	79140	CCDC28B	OMIM:209900
HP:0000163	Abnormal oral cavity morphology	582	BBS1	OMIM:209900
HP:0000163	Abnormal oral cavity morphology	5351	PLOD1	ORPHA:1900
HP:0000163	Abnormal oral cavity morphology	388662	SLC6A17	ORPHA:457212
HP:0000163	Abnormal oral cavity morphology	8558	CDK10	OMIM:617694
HP:0000163	Abnormal oral cavity morphology	368	ABCC6	OMIM:177850
HP:0000163	Abnormal oral cavity morphology	56098	PCDHGC4	OMIM:619880
HP:0000163	Abnormal oral cavity morphology	1315	COPB1	OMIM:619255
HP:0000163	Abnormal oral cavity morphology	404672	GTF2H5	ORPHA:33364
HP:0000163	Abnormal oral cavity morphology	136647	MPLKIP	ORPHA:33364
HP:0000163	Abnormal oral cavity morphology	6897	TARS1	ORPHA:33364
HP:0000163	Abnormal oral cavity morphology	2961	GTF2E2	ORPHA:33364
HP:0000163	Abnormal oral cavity morphology	27445	PCLO	OMIM:608027
HP:0000163	Abnormal oral cavity morphology	4629	MYH11	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	4015	LOX	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	59	ACTA2	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	5592	PRKG1	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	2301	FOXE3	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	4144	MAT2A	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	23493	HEY2	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	8076	MFAP5	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	4638	MYLK	ORPHA:91387
HP:0000163	Abnormal oral cavity morphology	94	ACVRL1	OMIM:600376
HP:0000163	Abnormal oral cavity morphology	2022	ENG	OMIM:187300
HP:0000163	Abnormal oral cavity morphology	1020	CDK5	OMIM:616342
HP:0000163	Abnormal oral cavity morphology	57531	HACE1	ORPHA:464282
HP:0000163	Abnormal oral cavity morphology	64327	LMBR1	ORPHA:2378
HP:0000163	Abnormal oral cavity morphology	2645	GCK	ORPHA:99885
HP:0000163	Abnormal oral cavity morphology	3651	PDX1	ORPHA:99885
HP:0000163	Abnormal oral cavity morphology	3630	INS	ORPHA:99885
HP:0000163	Abnormal oral cavity morphology	2710	GK	OMIM:307030
HP:0000163	Abnormal oral cavity morphology	84628	NTNG2	OMIM:618718
HP:0000163	Abnormal oral cavity morphology	3851	KRT4	OMIM:193900
HP:0000163	Abnormal oral cavity morphology	79651	RHBDF2	OMIM:148500
HP:0000163	Abnormal oral cavity morphology	286887	KRT6C	OMIM:615735
HP:0000163	Abnormal oral cavity morphology	6117	RPA1	OMIM:619767
HP:0000163	Abnormal oral cavity morphology	64858	DCLRE1B	OMIM:620133
HP:0000163	Abnormal oral cavity morphology	1277	COL1A1	ORPHA:287
HP:0000163	Abnormal oral cavity morphology	1289	COL5A1	ORPHA:287
HP:0000163	Abnormal oral cavity morphology	1290	COL5A2	ORPHA:287
HP:0000163	Abnormal oral cavity morphology	2591	GALNT3	OMIM:211900
HP:0000163	Abnormal oral cavity morphology	3166	HMX1	OMIM:612109
HP:0000163	Abnormal oral cavity morphology	10015	PDCD6IP	OMIM:620047
HP:0000163	Abnormal oral cavity morphology	2132	EXT2	OMIM:616682
HP:0000163	Abnormal oral cavity morphology	401138	AMTN	OMIM:617607
HP:0000163	Abnormal oral cavity morphology	123041	SLC24A4	OMIM:615887
HP:0000163	Abnormal oral cavity morphology	9361	LONP1	OMIM:600373
HP:0000163	Abnormal oral cavity morphology	81607	NECTIN4	OMIM:613573
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	ORPHA:94089
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	OMIM:612463
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	OMIM:612462
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	ORPHA:79443
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	ORPHA:79444
HP:0000163	Abnormal oral cavity morphology	2778	GNAS	OMIM:103580
HP:0000163	Abnormal oral cavity morphology	8675	STX16	ORPHA:94089
HP:0000163	Abnormal oral cavity morphology	3655	ITGA6	ORPHA:79403
HP:0000163	Abnormal oral cavity morphology	3909	LAMA3	ORPHA:79404
HP:0000163	Abnormal oral cavity morphology	3909	LAMA3	OMIM:245660
HP:0000163	Abnormal oral cavity morphology	3909	LAMA3	ORPHA:79402
HP:0000163	Abnormal oral cavity morphology	3909	LAMA3	OMIM:226700
HP:0000163	Abnormal oral cavity morphology	3918	LAMC2	ORPHA:79404
HP:0000163	Abnormal oral cavity morphology	3918	LAMC2	ORPHA:79402
HP:0000163	Abnormal oral cavity morphology	3918	LAMC2	OMIM:226700
HP:0000163	Abnormal oral cavity morphology	57511	COG6	ORPHA:363523
HP:0000163	Abnormal oral cavity morphology	57511	COG6	OMIM:614576
HP:0000163	Abnormal oral cavity morphology	57511	COG6	OMIM:615328
HP:0000163	Abnormal oral cavity morphology	152816	ODAPH	OMIM:614832
HP:0000163	Abnormal oral cavity morphology	3117	HLA-DQA1	OMIM:212750
HP:0000163	Abnormal oral cavity morphology	3119	HLA-DQB1	OMIM:212750
HP:0000163	Abnormal oral cavity morphology	1594	CYP27B1	OMIM:264700
HP:0000163	Abnormal oral cavity morphology	1594	CYP27B1	ORPHA:289157
HP:0000163	Abnormal oral cavity morphology	6304	SATB1	OMIM:619229
HP:0000163	Abnormal oral cavity morphology	57217	TTC7A	OMIM:243150
HP:0000163	Abnormal oral cavity morphology	120227	CYP2R1	ORPHA:289157
HP:0000163	Abnormal oral cavity morphology	80320	SP6	OMIM:620104
HP:0000163	Abnormal oral cavity morphology	9076	CLDN1	OMIM:607626
HP:0000163	Abnormal oral cavity morphology	326	AIRE	OMIM:240300
HP:0000163	Abnormal oral cavity morphology	79977	GRHL2	OMIM:616029
HP:0000163	Abnormal oral cavity morphology	1107	CHD3	OMIM:618205
HP:0000163	Abnormal oral cavity morphology	224	ALDH3A2	OMIM:270200
HP:0000163	Abnormal oral cavity morphology	5062	PAK2	OMIM:618458
HP:0000163	Abnormal oral cavity morphology	10844	TUBGCP2	OMIM:618737
HP:0000163	Abnormal oral cavity morphology	3149	HMGB3	OMIM:300915
HP:0000163	Abnormal oral cavity morphology	1130	LYST	ORPHA:167
HP:0000163	Abnormal oral cavity morphology	23019	CNOT1	ORPHA:556955
HP:0000163	Abnormal oral cavity morphology	4087	SMAD2	OMIM:619657
HP:0000163	Abnormal oral cavity morphology	5587	PRKD1	OMIM:617364
HP:0000163	Abnormal oral cavity morphology	1476	CSTB	ORPHA:248
HP:0000163	Abnormal oral cavity morphology	29887	SNX10	ORPHA:667
HP:0000163	Abnormal oral cavity morphology	23102	TBC1D2B	ORPHA:397973
HP:0000163	Abnormal oral cavity morphology	2067	ERCC1	ORPHA:90322
HP:0000163	Abnormal oral cavity morphology	6424	SFRP4	OMIM:265900
HP:0000163	Abnormal oral cavity morphology	7021	TFAP2B	ORPHA:46627
HP:0000163	Abnormal oral cavity morphology	387	RHOA	OMIM:618727
HP:0000163	Abnormal oral cavity morphology	51341	ZBTB7A	OMIM:619769
HP:0000163	Abnormal oral cavity morphology	63901	FAM111A	ORPHA:93325
HP:0000163	Abnormal oral cavity morphology	8600	TNFSF11	OMIM:259710
HP:0000163	Abnormal oral cavity morphology	50485	SMARCAL1	ORPHA:1830
HP:0000163	Abnormal oral cavity morphology	716	C1S	ORPHA:75392
HP:0000163	Abnormal oral cavity morphology	715	C1R	ORPHA:75392
HP:0000163	Abnormal oral cavity morphology	51715	RAB23	OMIM:201000
HP:0000163	Abnormal oral cavity morphology	64094	SMOC2	OMIM:125400
HP:0000163	Abnormal oral cavity morphology	64135	IFIH1	OMIM:182250
HP:0000163	Abnormal oral cavity morphology	284654	RSPO1	OMIM:610644
HP:0000163	Abnormal oral cavity morphology	4038	LRP4	OMIM:212780
HP:0000163	Abnormal oral cavity morphology	4763	NF1	ORPHA:363700
HP:0000163	Abnormal oral cavity morphology	55131	RBM28	ORPHA:157954
HP:0000163	Abnormal oral cavity morphology	1593	CYP27A1	ORPHA:909
HP:0000163	Abnormal oral cavity morphology	375056	MIA3	OMIM:619269
HP:0000163	Abnormal oral cavity morphology	23328	SASH1	OMIM:618373
HP:0000163	Abnormal oral cavity morphology	112802	KRT71	OMIM:615896
HP:0000163	Abnormal oral cavity morphology	7700	ZNF141	OMIM:615226
HP:0000163	Abnormal oral cavity morphology	3170	FOXA2	ORPHA:95494
HP:0000163	Abnormal oral cavity morphology	51611	DPH5	OMIM:620070
HP:0000163	Abnormal oral cavity morphology	2972	BRF1	ORPHA:444072
HP:0000163	Abnormal oral cavity morphology	5307	PITX1	OMIM:119800
HP:0000163	Abnormal oral cavity morphology	8111	GPR68	OMIM:617217
HP:0000163	Abnormal oral cavity morphology	10117	ENAM	OMIM:204650
HP:0000163	Abnormal oral cavity morphology	286077	FAM83H	OMIM:130900
HP:0000163	Abnormal oral cavity morphology	9622	KLK4	OMIM:204700
HP:0000163	Abnormal oral cavity morphology	9313	MMP20	OMIM:612529
HP:0000163	Abnormal oral cavity morphology	3914	LAMB3	OMIM:104530
HP:0000163	Abnormal oral cavity morphology	3694	ITGB6	OMIM:616221
HP:0000163	Abnormal oral cavity morphology	1804	DPP6	ORPHA:2514
HP:0000163	Abnormal oral cavity morphology	5116	PCNT	ORPHA:2637
HP:0000163	Abnormal oral cavity morphology	5116	PCNT	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	90993	CREB3L1	OMIM:616229
HP:0000163	Abnormal oral cavity morphology	1062	CENPE	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	79902	NUP85	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	84126	ATRIP	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	55835	CENPJ	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	10293	TRAIP	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	10733	PLK4	ORPHA:808
HP:0000163	Abnormal oral cavity morphology	57647	DHX37	OMIM:618731
HP:0000163	Abnormal oral cavity morphology	2690	GHR	ORPHA:633
HP:0000163	Abnormal oral cavity morphology	9241	NOG	OMIM:186500
HP:0000163	Abnormal oral cavity morphology	5371	PML	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	5914	RARA	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	359948	IRF2BP2	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	81608	FIP1L1	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	64859	NABP1	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	6777	STAT5B	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	4926	NUMA1	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	7704	ZBTB16	ORPHA:520
HP:0000163	Abnormal oral cavity morphology	2642	GCGR	ORPHA:438274
HP:0000163	Abnormal oral cavity morphology	3702	ITK	OMIM:613011
HP:0000163	Abnormal oral cavity morphology	399	RHOH	OMIM:618307
HP:0000163	Abnormal oral cavity morphology	10379	IRF9	OMIM:618648
HP:0000163	Abnormal oral cavity morphology	3557	IL1RN	OMIM:612852
HP:0000163	Abnormal oral cavity morphology	25974	MMACHC	ORPHA:79282
HP:0000163	Abnormal oral cavity morphology	7535	ZAP70	ORPHA:911
HP:0000163	Abnormal oral cavity morphology	8942	KYNU	ORPHA:79155
HP:0000163	Abnormal oral cavity morphology	90417	KNSTRN	OMIM:613328
HP:0000163	Abnormal oral cavity morphology	90417	KNSTRN	ORPHA:221139
HP:0000163	Abnormal oral cavity morphology	5293	PIK3CD	OMIM:613328
HP:0000163	Abnormal oral cavity morphology	5293	PIK3CD	ORPHA:221139
HP:0000163	Abnormal oral cavity morphology	84196	USP48	ORPHA:96253
HP:0000163	Abnormal oral cavity morphology	7157	TP53	ORPHA:96253
HP:0000163	Abnormal oral cavity morphology	9101	USP8	ORPHA:96253
HP:0000163	Abnormal oral cavity morphology	64072	CDH23	ORPHA:96253
HP:0000163	Abnormal oral cavity morphology	2908	NR3C1	ORPHA:96253
HP:0000163	Abnormal oral cavity morphology	4967	OGDH	ORPHA:31
HP:0000163	Abnormal oral cavity morphology	10736	SIX2	ORPHA:488437
HP:0000163	Abnormal oral cavity morphology	23426	GRIP1	ORPHA:2052
HP:0000163	Abnormal oral cavity morphology	55112	DYNC2I1	ORPHA:93271
HP:0000163	Abnormal oral cavity morphology	57560	IFT80	ORPHA:93271
HP:0000163	Abnormal oral cavity morphology	89891	DYNC2I2	ORPHA:93271
HP:0000163	Abnormal oral cavity morphology	265	AMELX	OMIM:301200
HP:0000163	Abnormal oral cavity morphology	60401	EDA2R	ORPHA:181
HP:0000163	Abnormal oral cavity morphology	6929	TCF3	OMIM:619824
HP:0000163	Abnormal oral cavity morphology	4131	MAP1B	OMIM:618918
HP:0000163	Abnormal oral cavity morphology	54892	NCAPG2	OMIM:618460
HP:0000163	Abnormal oral cavity morphology	781	CACNA2D1	OMIM:620149
HP:0000163	Abnormal oral cavity morphology	1436	CSF1R	OMIM:618476
HP:0000163	Abnormal oral cavity morphology	23030	KDM4B	OMIM:619320
HP:0000163	Abnormal oral cavity morphology	129685	TAF8	OMIM:619972
HP:0000163	Abnormal oral cavity morphology	2590	GALNT2	OMIM:618885
HP:0000163	Abnormal oral cavity morphology	5119	CHMP1A	OMIM:614961
HP:0000163	Abnormal oral cavity morphology	9581	PREPL	OMIM:616224
HP:0000163	Abnormal oral cavity morphology	26999	CYFIP2	OMIM:618008
HP:0000163	Abnormal oral cavity morphology	10943	MSL3	OMIM:301032
HP:0000163	Abnormal oral cavity morphology	1760	DMPK	ORPHA:589821
HP:0000163	Abnormal oral cavity morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000163	Abnormal oral cavity morphology	10367	MICU1	OMIM:615673
HP:0000163	Abnormal oral cavity morphology	4329	ALDH6A1	OMIM:614105
HP:0000163	Abnormal oral cavity morphology	51124	IER3IP1	OMIM:614231
HP:0000163	Abnormal oral cavity morphology	91875	TTC5	OMIM:619244
HP:0000163	Abnormal oral cavity morphology	9373	PLAA	ORPHA:521426
HP:0000163	Abnormal oral cavity morphology	9373	PLAA	OMIM:617527
HP:0000163	Abnormal oral cavity morphology	23219	FBXO28	OMIM:619777
HP:0000163	Abnormal oral cavity morphology	84081	NSRP1	OMIM:620001
HP:0000163	Abnormal oral cavity morphology	8813	DPM1	ORPHA:79322
HP:0000163	Abnormal oral cavity morphology	2801	GOLGA2	OMIM:620240
HP:0000163	Abnormal oral cavity morphology	129285	PPP1R21	OMIM:619383
HP:0000163	Abnormal oral cavity morphology	1917	EEF1A2	OMIM:616393
HP:0000163	Abnormal oral cavity morphology	4633	MYL2	OMIM:619424
HP:0000163	Abnormal oral cavity morphology	221927	BRAT1	OMIM:618056
HP:0000163	Abnormal oral cavity morphology	9230	RAB11B	OMIM:617807
HP:0000163	Abnormal oral cavity morphology	3187	HNRNPH1	OMIM:620083
HP:0000163	Abnormal oral cavity morphology	153642	ARSK	OMIM:619698
HP:0000163	Abnormal oral cavity morphology	55084	SOBP	OMIM:613671
HP:0000163	Abnormal oral cavity morphology	9321	TRIP11	OMIM:200600
HP:0000163	Abnormal oral cavity morphology	4001	LMNB1	OMIM:619179
HP:0000163	Abnormal oral cavity morphology	9289	ADGRG1	ORPHA:98889
HP:0000163	Abnormal oral cavity morphology	5297	PI4KA	ORPHA:98889
HP:0000163	Abnormal oral cavity morphology	27286	SRPX2	ORPHA:98889
HP:0000163	Abnormal oral cavity morphology	6872	TAF1	ORPHA:53351
HP:0000163	Abnormal oral cavity morphology	2898	GRIK2	OMIM:619580
HP:0000163	Abnormal oral cavity morphology	1457	CSNK2A1	OMIM:617062
HP:0000163	Abnormal oral cavity morphology	1193	CLIC2	ORPHA:324410
HP:0000163	Abnormal oral cavity morphology	23230	VPS13A	ORPHA:2388
HP:0000163	Abnormal oral cavity morphology	1759	DNM1	OMIM:620352
HP:0000163	Abnormal oral cavity morphology	1834	DSPP	OMIM:125420
HP:0000163	Abnormal oral cavity morphology	222663	SCUBE3	OMIM:619184
HP:0000163	Abnormal oral cavity morphology	545	ATR	OMIM:614564
HP:0000163	Abnormal oral cavity morphology	8517	IKBKG	OMIM:300291
HP:0000163	Abnormal oral cavity morphology	22827	PUF60	ORPHA:508488
HP:0000163	Abnormal oral cavity morphology	1857	DVL3	ORPHA:3107
HP:0000163	Abnormal oral cavity morphology	2535	FZD2	ORPHA:3107
HP:0000163	Abnormal oral cavity morphology	9508	ADAMTS3	ORPHA:2136
HP:0000163	Abnormal oral cavity morphology	79633	FAT4	ORPHA:2136
HP:0000163	Abnormal oral cavity morphology	6938	TCF12	OMIM:619718
HP:0000163	Abnormal oral cavity morphology	324	APC	OMIM:175100
HP:0000163	Abnormal oral cavity morphology	324	APC	ORPHA:247806
HP:0000163	Abnormal oral cavity morphology	324	APC	ORPHA:79665
HP:0000163	Abnormal oral cavity morphology	23630	KCNE5	ORPHA:86818
HP:0000163	Abnormal oral cavity morphology	2182	ACSL4	ORPHA:86818
HP:0000163	Abnormal oral cavity morphology	2542	SLC37A4	OMIM:619525
HP:0000163	Abnormal oral cavity morphology	2248	FGF3	ORPHA:90024
HP:0000163	Abnormal oral cavity morphology	3861	KRT14	ORPHA:69087
HP:0000163	Abnormal oral cavity morphology	865	CBFB	OMIM:620099
HP:0000163	Abnormal oral cavity morphology	258	AMBN	OMIM:616270
HP:0000163	Abnormal oral cavity morphology	7840	ALMS1	ORPHA:64
HP:0000163	Abnormal oral cavity morphology	7399	USH2A	ORPHA:231178
HP:0000163	Abnormal oral cavity morphology	79955	PDZD7	ORPHA:231178
HP:0000163	Abnormal oral cavity morphology	4647	MYO7A	ORPHA:231178
HP:0000163	Abnormal oral cavity morphology	25861	WHRN	ORPHA:231178
HP:0000163	Abnormal oral cavity morphology	84059	ADGRV1	ORPHA:231178
HP:0000163	Abnormal oral cavity morphology	26504	CNNM4	ORPHA:1873
HP:0000163	Abnormal oral cavity morphology	54757	FAM20A	ORPHA:1031
HP:0000163	Abnormal oral cavity morphology	284111	SLC13A5	ORPHA:1946
HP:0000163	Abnormal oral cavity morphology	79641	ROGDI	ORPHA:1946
HP:0000163	Abnormal oral cavity morphology	1308	COL17A1	ORPHA:251393
HP:0000163	Abnormal oral cavity morphology	3691	ITGB4	ORPHA:251393
HP:0000163	Abnormal oral cavity morphology	3762	KCNJ5	ORPHA:37553
HP:0000163	Abnormal oral cavity morphology	3759	KCNJ2	ORPHA:37553
HP:0000163	Abnormal oral cavity morphology	23028	KDM1A	ORPHA:477993
HP:0000163	Abnormal oral cavity morphology	4487	MSX1	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	128178	EDARADD	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	5083	PAX9	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	7341	SUMO1	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	80326	WNT10A	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	1896	EDA	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	8313	AXIN2	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	4040	LRP6	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	7039	TGFA	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	7480	WNT10B	ORPHA:99798
HP:0000163	Abnormal oral cavity morphology	4000	LMNA	ORPHA:740
HP:0000163	Abnormal oral cavity morphology	10269	ZMPSTE24	ORPHA:740
HP:0000163	Abnormal oral cavity morphology	51305	KCNK9	ORPHA:166108
HP:0000163	Abnormal oral cavity morphology	10664	CTCF	OMIM:615502
HP:0000163	Abnormal oral cavity morphology	6768	ST14	OMIM:602400
HP:0000163	Abnormal oral cavity morphology	84957	RELT	OMIM:618386
HP:0000163	Abnormal oral cavity morphology	256764	WDR72	OMIM:613211
HP:0000163	Abnormal oral cavity morphology	4750	NEK1	ORPHA:2751
HP:0000163	Abnormal oral cavity morphology	54880	BCOR	ORPHA:2712
HP:0000163	Abnormal oral cavity morphology	54880	BCOR	OMIM:300166
HP:0000163	Abnormal oral cavity morphology	9968	MED12	ORPHA:93932
HP:0000163	Abnormal oral cavity morphology	57539	WDR35	OMIM:614091
HP:0000163	Abnormal oral cavity morphology	57539	WDR35	OMIM:613610
HP:0000163	Abnormal oral cavity morphology	4810	NHS	OMIM:302350
HP:0000163	Abnormal oral cavity morphology	2887	GRB10	ORPHA:96182
HP:0000163	Abnormal oral cavity morphology	23111	SPART	ORPHA:101000
HP:0000163	Abnormal oral cavity morphology	57589	RIC1	OMIM:618761
HP:0000163	Abnormal oral cavity morphology	93650	ACP4	OMIM:617297
HP:0000163	Abnormal oral cavity morphology	101929726	MYMX	OMIM:619941
HP:0000163	Abnormal oral cavity morphology	2138	EYA1	OMIM:113650
HP:0000163	Abnormal oral cavity morphology	6495	SIX1	OMIM:113650
HP:0000163	Abnormal oral cavity morphology	2033	EP300	OMIM:613684
HP:0000163	Abnormal oral cavity morphology	57479	PRR12	OMIM:619539
HP:0000163	Abnormal oral cavity morphology	3097	HIVEP2	OMIM:616977
HP:0000163	Abnormal oral cavity morphology	91801	ALKBH8	OMIM:618504
HP:0000163	Abnormal oral cavity morphology	54517	PUS7	OMIM:618342
HP:0000163	Abnormal oral cavity morphology	1053	CEBPE	OMIM:260570
HP:0000163	Abnormal oral cavity morphology	6097	RORC	OMIM:616622
HP:0000163	Abnormal oral cavity morphology	51311	TLR8	OMIM:301078
HP:0000163	Abnormal oral cavity morphology	9948	WDR1	OMIM:150550
HP:0000163	Abnormal oral cavity morphology	146206	CARMIL2	OMIM:618131
HP:0000163	Abnormal oral cavity morphology	148022	TICAM1	OMIM:614850
HP:0000163	Abnormal oral cavity morphology	91662	NLRP12	OMIM:611762
HP:0000163	Abnormal oral cavity morphology	56244	BTNL2	ORPHA:797
HP:0000163	Abnormal oral cavity morphology	3123	HLA-DRB1	ORPHA:797
HP:0000163	Abnormal oral cavity morphology	488	ATP2A2	OMIM:124200
HP:0000163	Abnormal oral cavity morphology	51057	WDPCP	OMIM:217085
HP:0000163	Abnormal oral cavity morphology	51057	WDPCP	ORPHA:1338
HP:0000163	Abnormal oral cavity morphology	4081	MAB21L1	OMIM:618479
HP:0000163	Abnormal oral cavity morphology	55181	SMG8	OMIM:619268
HP:0000163	Abnormal oral cavity morphology	6288	SAA1	ORPHA:85445
HP:0000163	Abnormal oral cavity morphology	1802	DPH2	OMIM:620062
HP:0000163	Abnormal oral cavity morphology	11113	CIT	OMIM:617090
HP:0000163	Abnormal oral cavity morphology	11253	MAN1B1	ORPHA:397941
HP:0000163	Abnormal oral cavity morphology	54084	TSPEAR	OMIM:618180
HP:0000163	Abnormal oral cavity morphology	23363	OBSL1	OMIM:612921
HP:0000163	Abnormal oral cavity morphology	2334	AFF2	ORPHA:100973
HP:0000163	Abnormal oral cavity morphology	2334	AFF2	OMIM:309548
HP:0000163	Abnormal oral cavity morphology	5934	RBL2	OMIM:619690
HP:0000163	Abnormal oral cavity morphology	83999	KREMEN1	OMIM:617392
HP:0000163	Abnormal oral cavity morphology	7965	AIMP2	OMIM:618006
HP:0000163	Abnormal oral cavity morphology	83987	CCDC8	OMIM:614205
HP:0000163	Abnormal oral cavity morphology	22872	SEC31A	OMIM:618651
HP:0000163	Abnormal oral cavity morphology	54681	P4HTM	OMIM:618493
HP:0000163	Abnormal oral cavity morphology	4613	MYCN	OMIM:164280
HP:0000163	Abnormal oral cavity morphology	4338	MOCS2	OMIM:252160
HP:0000163	Abnormal oral cavity morphology	79644	SRD5A3	OMIM:612713
HP:0000163	Abnormal oral cavity morphology	4337	MOCS1	OMIM:252150
HP:0000163	Abnormal oral cavity morphology	85440	DOCK7	ORPHA:411986
HP:0000163	Abnormal oral cavity morphology	85440	DOCK7	OMIM:615859
HP:0000163	Abnormal oral cavity morphology	10283	CWC27	OMIM:250410
HP:0000163	Abnormal oral cavity morphology	7750	ZMYM2	OMIM:619522
HP:0000163	Abnormal oral cavity morphology	2890	GRIA1	OMIM:619927
HP:0000163	Abnormal oral cavity morphology	118924	FRA10AC1	OMIM:620113
HP:0000163	Abnormal oral cavity morphology	2273	FHL1	OMIM:300280
HP:0000163	Abnormal oral cavity morphology	5557	PRIM1	OMIM:620005
HP:0000163	Abnormal oral cavity morphology	79791	FBXO31	OMIM:615979
HP:0000163	Abnormal oral cavity morphology	55367	PIDD1	OMIM:619827
HP:0000163	Abnormal oral cavity morphology	84148	KAT8	OMIM:618974
HP:0000163	Abnormal oral cavity morphology	51013	EXOSC1	OMIM:619304
HP:0000163	Abnormal oral cavity morphology	51099	ABHD5	ORPHA:98907
HP:0000163	Abnormal oral cavity morphology	204219	CERS3	OMIM:615023
HP:0000163	Abnormal oral cavity morphology	2483	FRG1	OMIM:158900
HP:0000163	Abnormal oral cavity morphology	2934	GSN	ORPHA:85448
HP:0000163	Abnormal oral cavity morphology	339855	KY	OMIM:617114
HP:0000163	Abnormal oral cavity morphology	339855	KY	ORPHA:496689
HP:0000163	Abnormal oral cavity morphology	3508	IGHMBP2	OMIM:616155
HP:0000163	Abnormal oral cavity morphology	10528	NOP56	OMIM:614153
HP:0000163	Abnormal oral cavity morphology	10528	NOP56	ORPHA:276198
HP:0000163	Abnormal oral cavity morphology	22880	MORC2	ORPHA:466768
HP:0000163	Abnormal oral cavity morphology	10133	OPTN	OMIM:613435
HP:0000163	Abnormal oral cavity morphology	51010	EXOSC3	OMIM:614678
HP:0000163	Abnormal oral cavity morphology	4747	NEFL	ORPHA:101085
HP:0000163	Abnormal oral cavity morphology	113278	SLC52A3	OMIM:211530
HP:0000163	Abnormal oral cavity morphology	1528	CYB5A	ORPHA:621
HP:0000163	Abnormal oral cavity morphology	1727	CYB5R3	ORPHA:621
HP:0000163	Abnormal oral cavity morphology	8792	TNFRSF11A	OMIM:174810
HP:0000163	Abnormal oral cavity morphology	26525	IL36RN	OMIM:614204
HP:0000163	Abnormal oral cavity morphology	8029	CUBN	ORPHA:35858
HP:0000163	Abnormal oral cavity morphology	81693	AMN	ORPHA:35858
HP:0000163	Abnormal oral cavity morphology	3872	KRT17	OMIM:167210
HP:0000163	Abnormal oral cavity morphology	3872	KRT17	ORPHA:2309
HP:0000163	Abnormal oral cavity morphology	3868	KRT16	ORPHA:2309
HP:0000163	Abnormal oral cavity morphology	3853	KRT6A	ORPHA:2309
HP:0000163	Abnormal oral cavity morphology	3854	KRT6B	ORPHA:2309
HP:0000163	Abnormal oral cavity morphology	6720	SREBF1	OMIM:619016
HP:0000163	Abnormal oral cavity morphology	4194	MDM4	OMIM:618849
HP:0000163	Abnormal oral cavity morphology	7390	UROS	OMIM:263700
HP:0000163	Abnormal oral cavity morphology	7390	UROS	ORPHA:79277
HP:0000163	Abnormal oral cavity morphology	7389	UROD	ORPHA:95159
HP:0000163	Abnormal oral cavity morphology	4914	NTRK1	ORPHA:642
HP:0000163	Abnormal oral cavity morphology	5251	PHEX	ORPHA:89936
HP:0000163	Abnormal oral cavity morphology	8074	FGF23	ORPHA:89937
HP:0000163	Abnormal oral cavity morphology	1758	DMP1	ORPHA:289176
HP:0000163	Abnormal oral cavity morphology	5167	ENPP1	ORPHA:289176
HP:0000163	Abnormal oral cavity morphology	1991	ELANE	ORPHA:2686
HP:0000163	Abnormal oral cavity morphology	1747	DLX3	ORPHA:3352
HP:0000163	Abnormal oral cavity morphology	284	ANGPT1	OMIM:619361
HP:0000163	Abnormal oral cavity morphology	26509	MYOF	OMIM:619366
HP:0000163	Abnormal oral cavity morphology	64711	HS3ST6	OMIM:619367
HP:0000163	Abnormal oral cavity morphology	3827	KNG1	OMIM:619363
HP:0000163	Abnormal oral cavity morphology	11146	GLMN	ORPHA:83454
HP:0000163	Abnormal oral cavity morphology	9630	GNA14	ORPHA:1063
HP:0000163	Abnormal oral cavity morphology	59067	IL21	OMIM:615767
HP:0000163	Abnormal oral cavity morphology	54440	SASH3	OMIM:301082
HP:0000163	Abnormal oral cavity morphology	3569	IL6	OMIM:266600
HP:0000163	Abnormal oral cavity morphology	150468	CKAP2L	OMIM:272440
HP:0000163	Abnormal oral cavity morphology	6868	ADAM17	ORPHA:294023
HP:0000163	Abnormal oral cavity morphology	1956	EGFR	ORPHA:294023
HP:0000163	Abnormal oral cavity morphology	7512	XPNPEP2	ORPHA:100057
HP:0000163	Abnormal oral cavity morphology	710	SERPING1	ORPHA:100050
HP:0000163	Abnormal oral cavity morphology	55969	RAB5IF	OMIM:616994
HP:0000163	Abnormal oral cavity morphology	356	FASLG	ORPHA:3261
HP:0000163	Abnormal oral cavity morphology	5580	PRKCD	ORPHA:3261
HP:0000163	Abnormal oral cavity morphology	843	CASP10	ORPHA:3261
HP:0000163	Abnormal oral cavity morphology	10125	RASGRP1	ORPHA:3261
HP:0000163	Abnormal oral cavity morphology	8314	BAP1	ORPHA:2495
HP:0000163	Abnormal oral cavity morphology	4771	NF2	ORPHA:2495
HP:0000163	Abnormal oral cavity morphology	5155	PDGFB	ORPHA:2495
HP:0000163	Abnormal oral cavity morphology	84231	TRAF7	ORPHA:2495
HP:0000163	Abnormal oral cavity morphology	4609	MYC	ORPHA:543
HP:0000163	Abnormal oral cavity morphology	7486	WRN	ORPHA:902
HP:0000163	Abnormal oral cavity morphology	6794	STK11	ORPHA:2869
HP:0000163	Abnormal oral cavity morphology	4292	MLH1	ORPHA:587
HP:0000163	Abnormal oral cavity morphology	2956	MSH6	ORPHA:587
HP:0000163	Abnormal oral cavity morphology	4436	MSH2	ORPHA:587
HP:0000163	Abnormal oral cavity morphology	4041	LRP5	OMIM:607634
HP:0000163	Abnormal oral cavity morphology	4041	LRP5	ORPHA:2790
HP:0000163	Abnormal oral cavity morphology	4041	LRP5	OMIM:144750
HP:0000163	Abnormal oral cavity morphology	215	ABCD1	ORPHA:139399
HP:0000163	Abnormal oral cavity morphology	641	BLM	ORPHA:125
HP:0000163	Abnormal oral cavity morphology	55630	SLC39A4	ORPHA:37
HP:0000163	Abnormal oral cavity morphology	51360	MBTPS2	ORPHA:2273
HP:0000163	Abnormal oral cavity morphology	5317	PKP1	ORPHA:158668
HP:0000163	Abnormal oral cavity morphology	831	CAST	OMIM:616295
HP:0000163	Abnormal oral cavity morphology	55612	FERMT1	ORPHA:2908
HP:0000163	Abnormal oral cavity morphology	10892	MALT1	OMIM:615468
HP:0000163	Abnormal oral cavity morphology	84818	IL17RC	ORPHA:1334
HP:0000163	Abnormal oral cavity morphology	64581	CLEC7A	ORPHA:1334
HP:0000163	Abnormal oral cavity morphology	23765	IL17RA	ORPHA:1334
HP:0000163	Abnormal oral cavity morphology	10758	TRAF3IP2	ORPHA:1334
HP:0000163	Abnormal oral cavity morphology	10758	TRAF3IP2	OMIM:615527
HP:0000163	Abnormal oral cavity morphology	112744	IL17F	ORPHA:1334
HP:0000163	Abnormal oral cavity morphology	64065	PERP	OMIM:619208
HP:0000163	Abnormal oral cavity morphology	113235	SLC46A1	ORPHA:90045
HP:0000163	Abnormal oral cavity morphology	9509	ADAMTS2	OMIM:225410
HP:0000163	Abnormal oral cavity morphology	1830	DSG3	OMIM:619226
HP:0000163	Abnormal oral cavity morphology	100506658	OCLN	OMIM:251290
HP:0000163	Abnormal oral cavity morphology	1500	CTNND1	OMIM:617681
HP:0000163	Abnormal oral cavity morphology	4524	MTHFR	ORPHA:563609
HP:0000163	Abnormal oral cavity morphology	57216	VANGL2	ORPHA:563609
HP:0000166	Severe periodontitis	1075	CTSC	OMIM:170650
HP:0000166	Severe periodontitis	1075	CTSC	OMIM:245010
HP:0000166	Severe periodontitis	1075	CTSC	OMIM:245000
HP:0000166	Severe periodontitis	1075	CTSC	ORPHA:678
HP:0000166	Severe periodontitis	847	CAT	ORPHA:926
HP:0000166	Severe periodontitis	7852	CXCR4	ORPHA:51636
HP:0000166	Severe periodontitis	55343	SLC35C1	ORPHA:99843
HP:0000225	Gingival bleeding	3674	ITGA2B	OMIM:273800
HP:0000225	Gingival bleeding	3674	ITGA2B	ORPHA:849
HP:0000225	Gingival bleeding	2811	GP1BA	OMIM:153670
HP:0000225	Gingival bleeding	2811	GP1BA	ORPHA:274
HP:0000225	Gingival bleeding	2811	GP1BA	OMIM:231200
HP:0000225	Gingival bleeding	7454	WAS	OMIM:301000
HP:0000225	Gingival bleeding	7454	WAS	ORPHA:906
HP:0000225	Gingival bleeding	2812	GP1BB	ORPHA:274
HP:0000225	Gingival bleeding	2812	GP1BB	OMIM:231200
HP:0000225	Gingival bleeding	2815	GP9	ORPHA:274
HP:0000225	Gingival bleeding	2815	GP9	OMIM:231200
HP:0000225	Gingival bleeding	2243	FGA	OMIM:202400
HP:0000225	Gingival bleeding	2243	FGA	ORPHA:98880
HP:0000225	Gingival bleeding	2243	FGA	ORPHA:98881
HP:0000225	Gingival bleeding	2243	FGA	ORPHA:101041
HP:0000225	Gingival bleeding	2244	FGB	OMIM:202400
HP:0000225	Gingival bleeding	2244	FGB	ORPHA:98880
HP:0000225	Gingival bleeding	2244	FGB	ORPHA:98881
HP:0000225	Gingival bleeding	2244	FGB	ORPHA:101041
HP:0000225	Gingival bleeding	2266	FGG	OMIM:202400
HP:0000225	Gingival bleeding	2266	FGG	ORPHA:98880
HP:0000225	Gingival bleeding	2266	FGG	ORPHA:98881
HP:0000225	Gingival bleeding	2266	FGG	ORPHA:101041
HP:0000225	Gingival bleeding	716	C1S	OMIM:617174
HP:0000225	Gingival bleeding	10068	IL18BP	OMIM:618549
HP:0000225	Gingival bleeding	3257	HPS1	OMIM:203300
HP:0000225	Gingival bleeding	7456	WIPF1	ORPHA:906
HP:0000225	Gingival bleeding	1130	LYST	ORPHA:352723
HP:0000225	Gingival bleeding	1130	LYST	ORPHA:167
HP:0000225	Gingival bleeding	5345	SERPINF2	ORPHA:79
HP:0000225	Gingival bleeding	715	C1R	OMIM:130080
HP:0000225	Gingival bleeding	84343	HPS3	OMIM:614072
HP:0000225	Gingival bleeding	388552	BLOC1S3	OMIM:614077
HP:0000225	Gingival bleeding	3998	LMAN1	ORPHA:35909
HP:0000225	Gingival bleeding	90411	MCFD2	ORPHA:35909
HP:0000225	Gingival bleeding	2162	F13A1	OMIM:613225
HP:0000225	Gingival bleeding	2162	F13A1	ORPHA:331
HP:0000225	Gingival bleeding	2165	F13B	ORPHA:331
HP:0000225	Gingival bleeding	9493	KIF23	ORPHA:98870
HP:0000225	Gingival bleeding	29127	RACGAP1	ORPHA:98870
HP:0000225	Gingival bleeding	63915	BLOC1S5	OMIM:619172
HP:0000225	Gingival bleeding	3458	IFNG	ORPHA:88
HP:0000225	Gingival bleeding	5551	PRF1	ORPHA:88
HP:0000225	Gingival bleeding	7012	TERC	ORPHA:88
HP:0000225	Gingival bleeding	51119	SBDS	ORPHA:88
HP:0000225	Gingival bleeding	7015	TERT	ORPHA:88
HP:0000225	Gingival bleeding	2159	F10	OMIM:227600
HP:0000225	Gingival bleeding	2159	F10	ORPHA:328
HP:0000225	Gingival bleeding	2157	F8	ORPHA:169805
HP:0000225	Gingival bleeding	4352	MPL	ORPHA:729
HP:0000225	Gingival bleeding	3717	JAK2	ORPHA:729
HP:0000225	Gingival bleeding	54790	TET2	ORPHA:729
HP:0000225	Gingival bleeding	3690	ITGB3	ORPHA:849
HP:0000225	Gingival bleeding	847	CAT	ORPHA:926
HP:0000225	Gingival bleeding	2147	F2	OMIM:613679
HP:0000225	Gingival bleeding	63916	ELMO2	OMIM:606893
HP:0000225	Gingival bleeding	9103	FCGR2C	ORPHA:3002
HP:0000225	Gingival bleeding	2155	F7	ORPHA:327
HP:0000225	Gingival bleeding	2153	F5	ORPHA:326
HP:0000225	Gingival bleeding	6774	STAT3	ORPHA:520
HP:0000225	Gingival bleeding	5371	PML	ORPHA:520
HP:0000225	Gingival bleeding	5914	RARA	ORPHA:520
HP:0000225	Gingival bleeding	359948	IRF2BP2	ORPHA:520
HP:0000225	Gingival bleeding	81608	FIP1L1	ORPHA:520
HP:0000225	Gingival bleeding	4869	NPM1	ORPHA:520
HP:0000225	Gingival bleeding	5573	PRKAR1A	ORPHA:520
HP:0000225	Gingival bleeding	54880	BCOR	ORPHA:520
HP:0000225	Gingival bleeding	64859	NABP1	ORPHA:520
HP:0000225	Gingival bleeding	6777	STAT5B	ORPHA:520
HP:0000225	Gingival bleeding	4926	NUMA1	ORPHA:520
HP:0000225	Gingival bleeding	7704	ZBTB16	ORPHA:520
HP:0000225	Gingival bleeding	79718	TBL1XR1	ORPHA:520
HP:0000225	Gingival bleeding	4615	MYD88	ORPHA:33226
HP:0000225	Gingival bleeding	9509	ADAMTS2	OMIM:225410
HP:0000225	Gingival bleeding	2629	GBA1	ORPHA:77259
HP:0000225	Gingival bleeding	950	SCARB2	ORPHA:77259
HP:0000168	Abnormality of the gingiva	7852	CXCR4	ORPHA:51636
HP:0000168	Abnormality of the gingiva	55343	SLC35C1	ORPHA:99843
HP:0000168	Abnormality of the gingiva	1893	ECM1	ORPHA:530
HP:0000168	Abnormality of the gingiva	1857	DVL3	ORPHA:3107
HP:0000168	Abnormality of the gingiva	7474	WNT5A	ORPHA:3107
HP:0000168	Abnormality of the gingiva	1855	DVL1	ORPHA:3107
HP:0000168	Abnormality of the gingiva	2535	FZD2	ORPHA:3107
HP:0000168	Abnormality of the gingiva	4803	NGF	ORPHA:64752
HP:0000168	Abnormality of the gingiva	4914	NTRK1	ORPHA:64752
HP:0000168	Abnormality of the gingiva	80232	WDR26	ORPHA:513456
HP:0000168	Abnormality of the gingiva	51360	MBTPS2	ORPHA:659
HP:0000168	Abnormality of the gingiva	162514	TRPV3	ORPHA:659
HP:0000168	Abnormality of the gingiva	64065	PERP	ORPHA:659
HP:0000168	Abnormality of the gingiva	26040	SETBP1	ORPHA:798
HP:0000168	Abnormality of the gingiva	26123	TCTN3	ORPHA:2753
HP:0000168	Abnormality of the gingiva	6654	SOS1	OMIM:135300
HP:0000168	Abnormality of the gingiva	6654	SOS1	ORPHA:2024
HP:0000168	Abnormality of the gingiva	1718	DHCR24	OMIM:602398
HP:0000168	Abnormality of the gingiva	4221	MEN1	ORPHA:652
HP:0000168	Abnormality of the gingiva	1027	CDKN1B	ORPHA:652
HP:0000168	Abnormality of the gingiva	1026	CDKN1A	ORPHA:652
HP:0000168	Abnormality of the gingiva	1030	CDKN2B	ORPHA:652
HP:0000168	Abnormality of the gingiva	1031	CDKN2C	ORPHA:652
HP:0000168	Abnormality of the gingiva	4854	NOTCH3	ORPHA:2591
HP:0000168	Abnormality of the gingiva	5159	PDGFRB	ORPHA:2591
HP:0000168	Abnormality of the gingiva	118429	ANTXR2	OMIM:228600
HP:0000168	Abnormality of the gingiva	118429	ANTXR2	ORPHA:2028
HP:0000168	Abnormality of the gingiva	23461	ABCA5	OMIM:135400
HP:0000168	Abnormality of the gingiva	23461	ABCA5	ORPHA:2026
HP:0000168	Abnormality of the gingiva	54757	FAM20A	OMIM:204690
HP:0000168	Abnormality of the gingiva	3756	KCNH1	OMIM:135500
HP:0000168	Abnormality of the gingiva	3756	KCNH1	ORPHA:3473
HP:0000168	Abnormality of the gingiva	63916	ELMO2	ORPHA:3019
HP:0000168	Abnormality of the gingiva	7249	TSC2	OMIM:613254
HP:0000168	Abnormality of the gingiva	3458	IFNG	OMIM:613254
HP:0000168	Abnormality of the gingiva	5978	REST	ORPHA:2024
HP:0000168	Abnormality of the gingiva	5978	REST	OMIM:617626
HP:0000168	Abnormality of the gingiva	7248	TSC1	OMIM:191100
HP:0000168	Abnormality of the gingiva	526	ATP6V1B2	ORPHA:3473
HP:0000168	Abnormality of the gingiva	3782	KCNN3	ORPHA:3473
HP:0000168	Abnormality of the gingiva	56975	FAM20C	ORPHA:1832
HP:0000168	Abnormality of the gingiva	2137	EXTL3	ORPHA:508533
HP:0000168	Abnormality of the gingiva	3763	KCNJ6	ORPHA:435628
HP:0000168	Abnormality of the gingiva	3763	KCNJ6	OMIM:614098
HP:0000168	Abnormality of the gingiva	6309	SC5D	ORPHA:46059
HP:0000168	Abnormality of the gingiva	6309	SC5D	OMIM:607330
HP:0000168	Abnormality of the gingiva	8506	CNTNAP1	OMIM:618186
HP:0000168	Abnormality of the gingiva	2720	GLB1	OMIM:230600
HP:0000168	Abnormality of the gingiva	2720	GLB1	ORPHA:79255
HP:0000168	Abnormality of the gingiva	2720	GLB1	OMIM:230500
HP:0000168	Abnormality of the gingiva	4758	NEU1	ORPHA:93399
HP:0000168	Abnormality of the gingiva	4758	NEU1	ORPHA:93400
HP:0000168	Abnormality of the gingiva	114803	MYSM1	ORPHA:508542
HP:0000168	Abnormality of the gingiva	57465	TBC1D24	OMIM:220500
HP:0000168	Abnormality of the gingiva	57465	TBC1D24	ORPHA:79500
HP:0000168	Abnormality of the gingiva	23102	TBC1D2B	OMIM:619323
HP:0000168	Abnormality of the gingiva	54453	RIN2	ORPHA:217335
HP:0000168	Abnormality of the gingiva	54453	RIN2	OMIM:613075
HP:0000168	Abnormality of the gingiva	80816	ASXL3	OMIM:615485
HP:0000168	Abnormality of the gingiva	3097	HIVEP2	OMIM:616977
HP:0000168	Abnormality of the gingiva	1717	DHCR7	ORPHA:818
HP:0000168	Abnormality of the gingiva	79158	GNPTAB	OMIM:252500
HP:0000168	Abnormality of the gingiva	79158	GNPTAB	ORPHA:576
HP:0000168	Abnormality of the gingiva	4131	MAP1B	OMIM:618918
HP:0000168	Abnormality of the gingiva	4784	NFIX	OMIM:602535
HP:0000168	Abnormality of the gingiva	4784	NFIX	ORPHA:561
HP:0000168	Abnormality of the gingiva	4784	NFIX	OMIM:614753
HP:0000168	Abnormality of the gingiva	6023	RMRP	ORPHA:175
HP:0000168	Abnormality of the gingiva	4001	LMNB1	OMIM:619179
HP:0000168	Abnormality of the gingiva	4125	MAN2B1	OMIM:248500
HP:0000168	Abnormality of the gingiva	3899	AFF3	OMIM:619297
HP:0000168	Abnormality of the gingiva	3643	INSR	OMIM:246200
HP:0000168	Abnormality of the gingiva	3643	INSR	ORPHA:769
HP:0000168	Abnormality of the gingiva	3423	IDS	ORPHA:217085
HP:0000168	Abnormality of the gingiva	3423	IDS	ORPHA:217093
HP:0000168	Abnormality of the gingiva	64359	NXN	OMIM:618529
HP:0000168	Abnormality of the gingiva	64359	NXN	ORPHA:1507
HP:0000168	Abnormality of the gingiva	9326	ZNHIT3	ORPHA:2836
HP:0000168	Abnormality of the gingiva	547	KIF1A	ORPHA:2836
HP:0000168	Abnormality of the gingiva	7965	AIMP2	OMIM:618006
HP:0000168	Abnormality of the gingiva	93627	TBCK	OMIM:616900
HP:0000168	Abnormality of the gingiva	4920	ROR2	ORPHA:1507
HP:0000168	Abnormality of the gingiva	4920	ROR2	OMIM:268310
HP:0000168	Abnormality of the gingiva	4323	MMP14	OMIM:277950
HP:0000168	Abnormality of the gingiva	9839	ZEB2	ORPHA:261552
HP:0000168	Abnormality of the gingiva	9839	ZEB2	ORPHA:261537
HP:0000168	Abnormality of the gingiva	633	BGN	OMIM:300989
HP:0000168	Abnormality of the gingiva	5277	PIGA	OMIM:300868
HP:0000168	Abnormality of the gingiva	5277	PIGA	OMIM:301072
HP:0000168	Abnormality of the gingiva	23065	EMC1	OMIM:616875
HP:0000168	Abnormality of the gingiva	23065	EMC1	ORPHA:480898
HP:0000168	Abnormality of the gingiva	23314	SATB2	OMIM:612313
HP:0000168	Abnormality of the gingiva	3425	IDUA	OMIM:607014
HP:0000168	Abnormality of the gingiva	175	AGA	ORPHA:93
HP:0000168	Abnormality of the gingiva	4247	MGAT2	OMIM:212066
HP:0000168	Abnormality of the gingiva	54496	PRMT7	ORPHA:464288
HP:0000168	Abnormality of the gingiva	50801	KCNK4	OMIM:618381
HP:0000168	Abnormality of the gingiva	157680	VPS13B	ORPHA:193
HP:0000168	Abnormality of the gingiva	57061	HYMAI	ORPHA:96191
HP:0000168	Abnormality of the gingiva	5325	PLAGL1	ORPHA:96191
HP:0000168	Abnormality of the gingiva	94005	PIGS	OMIM:618143
HP:0000168	Abnormality of the gingiva	9508	ADAMTS3	ORPHA:2136
HP:0000168	Abnormality of the gingiva	147372	CCBE1	ORPHA:2136
HP:0000168	Abnormality of the gingiva	147372	CCBE1	OMIM:235510
HP:0000168	Abnormality of the gingiva	79633	FAT4	ORPHA:2136
HP:0000168	Abnormality of the gingiva	117581	TWIST2	OMIM:209885
HP:0000168	Abnormality of the gingiva	8239	USP9X	ORPHA:480880
HP:0000168	Abnormality of the gingiva	6804	STX1A	ORPHA:904
HP:0000168	Abnormality of the gingiva	7461	CLIP2	ORPHA:904
HP:0000168	Abnormality of the gingiva	84277	DNAJC30	ORPHA:904
HP:0000168	Abnormality of the gingiva	8468	FKBP6	ORPHA:904
HP:0000168	Abnormality of the gingiva	5982	RFC2	ORPHA:904
HP:0000168	Abnormality of the gingiva	2969	GTF2I	ORPHA:904
HP:0000168	Abnormality of the gingiva	3984	LIMK1	ORPHA:904
HP:0000168	Abnormality of the gingiva	9569	GTF2IRD1	ORPHA:904
HP:0000168	Abnormality of the gingiva	155382	VPS37D	ORPHA:904
HP:0000168	Abnormality of the gingiva	155368	METTL27	ORPHA:904
HP:0000168	Abnormality of the gingiva	114049	BUD23	ORPHA:904
HP:0000168	Abnormality of the gingiva	7458	EIF4H	ORPHA:904
HP:0000168	Abnormality of the gingiva	84163	GTF2IRD2	ORPHA:904
HP:0000168	Abnormality of the gingiva	9275	BCL7B	ORPHA:904
HP:0000168	Abnormality of the gingiva	26608	TBL2	ORPHA:904
HP:0000168	Abnormality of the gingiva	135886	TMEM270	ORPHA:904
HP:0000168	Abnormality of the gingiva	51085	MLXIPL	ORPHA:904
HP:0000168	Abnormality of the gingiva	9031	BAZ1B	ORPHA:904
HP:0000168	Abnormality of the gingiva	2006	ELN	ORPHA:904
HP:0000168	Abnormality of the gingiva	285590	SH3PXD2B	ORPHA:137834
HP:0000168	Abnormality of the gingiva	285590	SH3PXD2B	OMIM:249420
HP:0000168	Abnormality of the gingiva	54499	TMCO1	OMIM:213980
HP:0000168	Abnormality of the gingiva	10060	ABCC9	OMIM:239850
HP:0000168	Abnormality of the gingiva	23556	PIGN	ORPHA:280633
HP:0000168	Abnormality of the gingiva	253959	RALGAPA1	OMIM:618797
HP:0000168	Abnormality of the gingiva	51124	IER3IP1	OMIM:614231
HP:0000168	Abnormality of the gingiva	2263	FGFR2	OMIM:614592
HP:0000168	Abnormality of the gingiva	2263	FGFR2	OMIM:123790
HP:0000168	Abnormality of the gingiva	2263	FGFR2	ORPHA:313855
HP:0000168	Abnormality of the gingiva	1759	DNM1	OMIM:620352
HP:0000168	Abnormality of the gingiva	26503	SLC17A5	OMIM:269920
HP:0000168	Abnormality of the gingiva	2990	GUSB	OMIM:253220
HP:0000168	Abnormality of the gingiva	23219	FBXO28	OMIM:619777
HP:0000168	Abnormality of the gingiva	3930	LBR	OMIM:169400
HP:0000168	Abnormality of the gingiva	10225	CD96	ORPHA:1308
HP:0000168	Abnormality of the gingiva	3778	KCNMA1	OMIM:618729
HP:0000168	Abnormality of the gingiva	4313	MMP2	OMIM:259600
HP:0000168	Abnormality of the gingiva	2776	GNAQ	ORPHA:3205
HP:0000168	Abnormality of the gingiva	28962	OSTM1	OMIM:259720
HP:0000168	Abnormality of the gingiva	5371	PML	ORPHA:520
HP:0000168	Abnormality of the gingiva	5914	RARA	ORPHA:520
HP:0000168	Abnormality of the gingiva	359948	IRF2BP2	ORPHA:520
HP:0000168	Abnormality of the gingiva	81608	FIP1L1	ORPHA:520
HP:0000168	Abnormality of the gingiva	5573	PRKAR1A	ORPHA:520
HP:0000168	Abnormality of the gingiva	54880	BCOR	ORPHA:520
HP:0000168	Abnormality of the gingiva	64859	NABP1	ORPHA:520
HP:0000168	Abnormality of the gingiva	6777	STAT5B	ORPHA:520
HP:0000168	Abnormality of the gingiva	4926	NUMA1	ORPHA:520
HP:0000168	Abnormality of the gingiva	7704	ZBTB16	ORPHA:520
HP:0000168	Abnormality of the gingiva	79718	TBL1XR1	ORPHA:520
HP:0000168	Abnormality of the gingiva	10533	ATG7	OMIM:619422
HP:0000168	Abnormality of the gingiva	4921	DDR2	OMIM:618175
HP:0000168	Abnormality of the gingiva	55315	SLC29A3	ORPHA:168569
HP:0000168	Abnormality of the gingiva	2719	GPC3	OMIM:312870
HP:0000168	Abnormality of the gingiva	2239	GPC4	OMIM:312870
HP:0000168	Abnormality of the gingiva	81603	TRIM8	OMIM:619428
HP:0000168	Abnormality of the gingiva	9509	ADAMTS2	OMIM:225410
HP:0000168	Abnormality of the gingiva	3674	ITGA2B	OMIM:273800
HP:0000168	Abnormality of the gingiva	3674	ITGA2B	ORPHA:849
HP:0000168	Abnormality of the gingiva	2811	GP1BA	OMIM:153670
HP:0000168	Abnormality of the gingiva	2811	GP1BA	ORPHA:274
HP:0000168	Abnormality of the gingiva	2811	GP1BA	OMIM:231200
HP:0000168	Abnormality of the gingiva	7454	WAS	OMIM:301000
HP:0000168	Abnormality of the gingiva	7454	WAS	ORPHA:906
HP:0000168	Abnormality of the gingiva	2812	GP1BB	ORPHA:274
HP:0000168	Abnormality of the gingiva	2812	GP1BB	OMIM:231200
HP:0000168	Abnormality of the gingiva	2815	GP9	ORPHA:274
HP:0000168	Abnormality of the gingiva	2815	GP9	OMIM:231200
HP:0000168	Abnormality of the gingiva	2243	FGA	OMIM:202400
HP:0000168	Abnormality of the gingiva	2243	FGA	ORPHA:98880
HP:0000168	Abnormality of the gingiva	2243	FGA	ORPHA:98881
HP:0000168	Abnormality of the gingiva	2243	FGA	ORPHA:101041
HP:0000168	Abnormality of the gingiva	2244	FGB	OMIM:202400
HP:0000168	Abnormality of the gingiva	2244	FGB	ORPHA:98880
HP:0000168	Abnormality of the gingiva	2244	FGB	ORPHA:98881
HP:0000168	Abnormality of the gingiva	2244	FGB	ORPHA:101041
HP:0000168	Abnormality of the gingiva	2266	FGG	OMIM:202400
HP:0000168	Abnormality of the gingiva	2266	FGG	ORPHA:98880
HP:0000168	Abnormality of the gingiva	2266	FGG	ORPHA:98881
HP:0000168	Abnormality of the gingiva	2266	FGG	ORPHA:101041
HP:0000168	Abnormality of the gingiva	10068	IL18BP	OMIM:618549
HP:0000168	Abnormality of the gingiva	3257	HPS1	OMIM:203300
HP:0000168	Abnormality of the gingiva	7456	WIPF1	ORPHA:906
HP:0000168	Abnormality of the gingiva	5345	SERPINF2	ORPHA:79
HP:0000168	Abnormality of the gingiva	84343	HPS3	OMIM:614072
HP:0000168	Abnormality of the gingiva	388552	BLOC1S3	OMIM:614077
HP:0000168	Abnormality of the gingiva	3998	LMAN1	ORPHA:35909
HP:0000168	Abnormality of the gingiva	90411	MCFD2	ORPHA:35909
HP:0000168	Abnormality of the gingiva	2162	F13A1	OMIM:613225
HP:0000168	Abnormality of the gingiva	2162	F13A1	ORPHA:331
HP:0000168	Abnormality of the gingiva	2165	F13B	ORPHA:331
HP:0000168	Abnormality of the gingiva	9493	KIF23	ORPHA:98870
HP:0000168	Abnormality of the gingiva	29127	RACGAP1	ORPHA:98870
HP:0000168	Abnormality of the gingiva	63915	BLOC1S5	OMIM:619172
HP:0000168	Abnormality of the gingiva	5551	PRF1	ORPHA:88
HP:0000168	Abnormality of the gingiva	51119	SBDS	ORPHA:88
HP:0000168	Abnormality of the gingiva	2159	F10	OMIM:227600
HP:0000168	Abnormality of the gingiva	2159	F10	ORPHA:328
HP:0000168	Abnormality of the gingiva	2157	F8	ORPHA:169805
HP:0000168	Abnormality of the gingiva	4352	MPL	ORPHA:729
HP:0000168	Abnormality of the gingiva	3717	JAK2	ORPHA:729
HP:0000168	Abnormality of the gingiva	54790	TET2	ORPHA:729
HP:0000168	Abnormality of the gingiva	3690	ITGB3	ORPHA:849
HP:0000168	Abnormality of the gingiva	2147	F2	OMIM:613679
HP:0000168	Abnormality of the gingiva	9103	FCGR2C	ORPHA:3002
HP:0000168	Abnormality of the gingiva	2155	F7	ORPHA:327
HP:0000168	Abnormality of the gingiva	2153	F5	ORPHA:326
HP:0000168	Abnormality of the gingiva	4615	MYD88	ORPHA:33226
HP:0000168	Abnormality of the gingiva	2629	GBA1	ORPHA:77259
HP:0000168	Abnormality of the gingiva	950	SCARB2	ORPHA:77259
HP:0000168	Abnormality of the gingiva	11285	B4GALT7	ORPHA:75496
HP:0000168	Abnormality of the gingiva	10804	GJB6	ORPHA:477
HP:0000168	Abnormality of the gingiva	2706	GJB2	ORPHA:477
HP:0000168	Abnormality of the gingiva	3689	ITGB2	OMIM:116920
HP:0000168	Abnormality of the gingiva	7840	ALMS1	ORPHA:64
HP:0000168	Abnormality of the gingiva	7840	ALMS1	OMIM:203800
HP:0000168	Abnormality of the gingiva	55612	FERMT1	ORPHA:2908
HP:0000168	Abnormality of the gingiva	55612	FERMT1	OMIM:173650
HP:0000168	Abnormality of the gingiva	6774	STAT3	ORPHA:2314
HP:0000168	Abnormality of the gingiva	340024	SLC6A19	ORPHA:2116
HP:0000168	Abnormality of the gingiva	57393	CLTRN	ORPHA:2116
HP:0000168	Abnormality of the gingiva	10379	IRF9	OMIM:618648
HP:0000168	Abnormality of the gingiva	847	CAT	ORPHA:926
HP:0000168	Abnormality of the gingiva	9842	PLEKHM1	OMIM:618107
HP:0000168	Abnormality of the gingiva	959	CD40LG	OMIM:308230
HP:0000168	Abnormality of the gingiva	5340	PLG	ORPHA:722
HP:0000168	Abnormality of the gingiva	5340	PLG	OMIM:217090
HP:0000168	Abnormality of the gingiva	10312	TCIRG1	ORPHA:486
HP:0000168	Abnormality of the gingiva	1991	ELANE	ORPHA:486
HP:0000168	Abnormality of the gingiva	1991	ELANE	ORPHA:2686
HP:0000168	Abnormality of the gingiva	2672	GFI1	ORPHA:486
HP:0000168	Abnormality of the gingiva	6729	SRP54	ORPHA:486
HP:0000168	Abnormality of the gingiva	81570	CLPB	ORPHA:486
HP:0000168	Abnormality of the gingiva	1281	COL3A1	ORPHA:286
HP:0000168	Abnormality of the gingiva	6785	ELOVL4	OMIM:614457
HP:0000168	Abnormality of the gingiva	54809	SAMD9	OMIM:610455
HP:0000168	Abnormality of the gingiva	1130	LYST	OMIM:214500
HP:0000168	Abnormality of the gingiva	3853	KRT6A	OMIM:615726
HP:0000168	Abnormality of the gingiva	4952	OCRL	ORPHA:534
HP:0000168	Abnormality of the gingiva	1536	CYBB	ORPHA:379
HP:0000168	Abnormality of the gingiva	4688	NCF2	ORPHA:379
HP:0000168	Abnormality of the gingiva	1535	CYBA	ORPHA:379
HP:0000168	Abnormality of the gingiva	4689	NCF4	ORPHA:379
HP:0000168	Abnormality of the gingiva	653361	NCF1	ORPHA:379
HP:0000168	Abnormality of the gingiva	79415	CYBC1	ORPHA:379
HP:0000168	Abnormality of the gingiva	2542	SLC37A4	ORPHA:79259
HP:0000168	Abnormality of the gingiva	1075	CTSC	ORPHA:678
HP:0000168	Abnormality of the gingiva	2248	FGF3	ORPHA:2791
HP:0000168	Abnormality of the gingiva	92344	GORAB	OMIM:231070
HP:0000168	Abnormality of the gingiva	8546	AP3B1	OMIM:608233
HP:0000168	Abnormality of the gingiva	375056	MIA3	OMIM:619269
HP:0000168	Abnormality of the gingiva	80169	CTC1	ORPHA:1775
HP:0000168	Abnormality of the gingiva	26277	TINF2	ORPHA:1775
HP:0000168	Abnormality of the gingiva	55651	NHP2	ORPHA:1775
HP:0000168	Abnormality of the gingiva	79650	USB1	ORPHA:1775
HP:0000168	Abnormality of the gingiva	55135	WRAP53	ORPHA:1775
HP:0000168	Abnormality of the gingiva	51750	RTEL1	ORPHA:1775
HP:0000168	Abnormality of the gingiva	4869	NPM1	ORPHA:1775
HP:0000168	Abnormality of the gingiva	7012	TERC	ORPHA:1775
HP:0000168	Abnormality of the gingiva	55505	NOP10	ORPHA:1775
HP:0000168	Abnormality of the gingiva	5073	PARN	ORPHA:1775
HP:0000168	Abnormality of the gingiva	7015	TERT	ORPHA:1775
HP:0000168	Abnormality of the gingiva	1736	DKC1	ORPHA:1775
HP:0000168	Abnormality of the gingiva	7298	TYMS	ORPHA:1775
HP:0000168	Abnormality of the gingiva	4853	NOTCH2	ORPHA:955
HP:0000168	Abnormality of the gingiva	165	AEBP1	ORPHA:536532
HP:0000168	Abnormality of the gingiva	219844	HYLS1	ORPHA:2189
HP:0000168	Abnormality of the gingiva	374654	KIF7	ORPHA:2189
HP:0000168	Abnormality of the gingiva	4089	SMAD4	ORPHA:2588
HP:0000168	Abnormality of the gingiva	1832	DSP	OMIM:615821
HP:0000168	Abnormality of the gingiva	9896	FIG4	ORPHA:3472
HP:0000168	Abnormality of the gingiva	55697	VAC14	ORPHA:3472
HP:0000168	Abnormality of the gingiva	715	C1R	OMIM:130080
HP:0000168	Abnormality of the gingiva	716	C1S	OMIM:617174
HP:0000169	Gingival fibromatosis	6654	SOS1	OMIM:135300
HP:0000169	Gingival fibromatosis	6654	SOS1	ORPHA:2024
HP:0000169	Gingival fibromatosis	1718	DHCR24	OMIM:602398
HP:0000169	Gingival fibromatosis	4221	MEN1	ORPHA:652
HP:0000169	Gingival fibromatosis	1027	CDKN1B	ORPHA:652
HP:0000169	Gingival fibromatosis	1026	CDKN1A	ORPHA:652
HP:0000169	Gingival fibromatosis	1030	CDKN2B	ORPHA:652
HP:0000169	Gingival fibromatosis	1031	CDKN2C	ORPHA:652
HP:0000169	Gingival fibromatosis	4854	NOTCH3	ORPHA:2591
HP:0000169	Gingival fibromatosis	5159	PDGFRB	ORPHA:2591
HP:0000169	Gingival fibromatosis	118429	ANTXR2	OMIM:228600
HP:0000169	Gingival fibromatosis	118429	ANTXR2	ORPHA:2028
HP:0000169	Gingival fibromatosis	23461	ABCA5	OMIM:135400
HP:0000169	Gingival fibromatosis	23461	ABCA5	ORPHA:2026
HP:0000169	Gingival fibromatosis	54757	FAM20A	OMIM:204690
HP:0000169	Gingival fibromatosis	3756	KCNH1	OMIM:135500
HP:0000169	Gingival fibromatosis	3756	KCNH1	ORPHA:3473
HP:0000169	Gingival fibromatosis	63916	ELMO2	ORPHA:3019
HP:0000169	Gingival fibromatosis	7249	TSC2	OMIM:613254
HP:0000169	Gingival fibromatosis	3458	IFNG	OMIM:613254
HP:0000169	Gingival fibromatosis	5978	REST	ORPHA:2024
HP:0000169	Gingival fibromatosis	5978	REST	OMIM:617626
HP:0000169	Gingival fibromatosis	7248	TSC1	OMIM:191100
HP:0000169	Gingival fibromatosis	526	ATP6V1B2	ORPHA:3473
HP:0000169	Gingival fibromatosis	3782	KCNN3	ORPHA:3473
HP:0000169	Gingival fibromatosis	56975	FAM20C	ORPHA:1832
HP:0010381	Abnormality of the middle phalanx of the 4th toe	285203	EOGT	OMIM:615297
HP:0010389	Symphalangism affecting the phalanges of the 5th toe	9241	NOG	OMIM:186500
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	51776	MAP3K20	ORPHA:488232
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	6597	SMARCA4	OMIM:614609
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	3782	KCNN3	OMIM:618658
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	57492	ARID1B	OMIM:135900
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	9241	NOG	OMIM:186500
HP:0007325	Generalized dystonia	9757	KMT2B	ORPHA:589618
HP:0007325	Generalized dystonia	55739	NAXD	OMIM:618321
HP:0007325	Generalized dystonia	5354	PLP1	OMIM:312080
HP:0007325	Generalized dystonia	7143	TNR	OMIM:619653
HP:0007325	Generalized dystonia	23516	SLC39A14	OMIM:617013
HP:0007325	Generalized dystonia	57679	ALS2	OMIM:205100
HP:0007325	Generalized dystonia	58494	JAM2	OMIM:618824
HP:0007325	Generalized dystonia	8575	PRKRA	OMIM:612067
HP:0007325	Generalized dystonia	2643	GCH1	ORPHA:98808
HP:0007325	Generalized dystonia	4929	NR4A2	ORPHA:98808
HP:0007325	Generalized dystonia	3615	IMPDH2	ORPHA:98808
HP:0007325	Generalized dystonia	10382	TUBB4A	ORPHA:98805
HP:0007325	Generalized dystonia	10382	TUBB4A	OMIM:128101
HP:0007325	Generalized dystonia	55145	THAP1	ORPHA:98806
HP:0007325	Generalized dystonia	9256	TSPOAP1	ORPHA:101150
HP:0007325	Generalized dystonia	7054	TH	ORPHA:101150
HP:0007325	Generalized dystonia	10128	LRPPRC	ORPHA:70472
HP:0007325	Generalized dystonia	3208	HPCA	ORPHA:99657
HP:0007325	Generalized dystonia	6821	SUOX	OMIM:272300
HP:0007325	Generalized dystonia	60	ACTB	ORPHA:79107
HP:0007325	Generalized dystonia	60	ACTB	OMIM:607371
HP:0007325	Generalized dystonia	1678	TIMM8A	ORPHA:52368
HP:0007325	Generalized dystonia	1737	DLAT	OMIM:245348
HP:0007325	Generalized dystonia	64432	MRPS25	OMIM:619025
HP:0007325	Generalized dystonia	84909	AOPEP	OMIM:619565
HP:0007325	Generalized dystonia	27072	VPS41	OMIM:619389
HP:0007325	Generalized dystonia	79152	FA2H	ORPHA:329308
HP:0007325	Generalized dystonia	79152	FA2H	ORPHA:171629
HP:0007325	Generalized dystonia	4695	NDUFA2	OMIM:618235
HP:0007325	Generalized dystonia	83636	C19orf12	OMIM:614298
HP:0007325	Generalized dystonia	80025	PANK2	ORPHA:216866
HP:0007325	Generalized dystonia	51506	UFC1	OMIM:618076
HP:0007325	Generalized dystonia	137682	NDUFAF6	OMIM:618239
HP:0007325	Generalized dystonia	498	ATP5F1A	OMIM:620358
HP:0007325	Generalized dystonia	1861	TOR1A	OMIM:128100
HP:0007326	Progressive choreoathetosis	23230	VPS13A	OMIM:200150
HP:0007327	Mixed demyelinating and axonal polyneuropathy	22880	MORC2	ORPHA:466768
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4558	MT-TF	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4572	MT-TQ	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4512	MT-CO1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4513	MT-CO2	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4514	MT-CO3	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4578	MT-TW	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4540	MT-ND5	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4541	MT-ND6	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4535	MT-ND1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4538	MT-ND4	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4567	MT-TL1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4574	MT-TS1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4575	MT-TS2	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4564	MT-TH	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	540	ATP7B	OMIM:277900
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4747	NEFL	ORPHA:101085
HP:0030799	Scaphocephaly	2737	GLI3	ORPHA:672
HP:0030799	Scaphocephaly	2737	GLI3	OMIM:175700
HP:0030799	Scaphocephaly	56992	KIF15	ORPHA:261323
HP:0030799	Scaphocephaly	199857	ALG14	OMIM:619036
HP:0030799	Scaphocephaly	51256	TBC1D7	OMIM:248000
HP:0030799	Scaphocephaly	3423	IDS	OMIM:309900
HP:0030799	Scaphocephaly	3590	IL11RA	OMIM:614188
HP:0030799	Scaphocephaly	1272	CNTN1	OMIM:612540
HP:0030799	Scaphocephaly	7291	TWIST1	OMIM:123100
HP:0030799	Scaphocephaly	3572	IL6ST	OMIM:618523
HP:0030799	Scaphocephaly	1801	DPH1	OMIM:616901
HP:0030799	Scaphocephaly	1801	DPH1	ORPHA:459061
HP:0030799	Scaphocephaly	11133	KPTN	OMIM:615637
HP:0030799	Scaphocephaly	11133	KPTN	ORPHA:397612
HP:0030799	Scaphocephaly	55681	SCYL2	ORPHA:1143
HP:0030799	Scaphocephaly	84570	COL25A1	ORPHA:1143
HP:0030799	Scaphocephaly	57222	ERGIC1	ORPHA:1143
HP:0030799	Scaphocephaly	5824	PEX19	OMIM:614886
HP:0030799	Scaphocephaly	5557	PRIM1	OMIM:620005
HP:0030799	Scaphocephaly	3295	HSD17B4	OMIM:261515
HP:0030799	Scaphocephaly	3845	KRAS	OMIM:609942
HP:0030799	Scaphocephaly	4784	NFIX	ORPHA:420179
HP:0030799	Scaphocephaly	55764	IFT122	OMIM:218330
HP:0030799	Scaphocephaly	6261	RYR1	OMIM:619542
HP:0030799	Scaphocephaly	55553	SOX6	OMIM:618971
HP:0030799	Scaphocephaly	372	ARCN1	OMIM:617164
HP:0030799	Scaphocephaly	9742	IFT140	OMIM:266920
HP:0030799	Scaphocephaly	91179	SCARF2	OMIM:600920
HP:0030799	Scaphocephaly	27161	AGO2	OMIM:619149
HP:0030799	Scaphocephaly	80816	ASXL3	OMIM:615485
HP:0030799	Scaphocephaly	112752	IFT43	OMIM:614099
HP:0030799	Scaphocephaly	10293	TRAIP	OMIM:616777
HP:0030799	Scaphocephaly	23545	ATP6V0A2	OMIM:278250
HP:0030799	Scaphocephaly	2201	FBN2	OMIM:121050
HP:0030799	Scaphocephaly	55753	OGDHL	OMIM:619701
HP:0030799	Scaphocephaly	55623	THUMPD1	OMIM:619989
HP:0030799	Scaphocephaly	2200	FBN1	OMIM:616914
HP:0030799	Scaphocephaly	3762	KCNJ5	ORPHA:37553
HP:0030799	Scaphocephaly	3759	KCNJ2	ORPHA:37553
HP:0007330	Frontal encephalocele	157570	ESCO2	OMIM:268300
HP:0007330	Frontal encephalocele	30813	VSX1	OMIM:614195
HP:0007332	Focal hemifacial clonic seizure	57465	TBC1D24	OMIM:608105
HP:0007332	Focal hemifacial clonic seizure	57465	TBC1D24	ORPHA:163727
HP:0007332	Focal hemifacial clonic seizure	27286	SRPX2	ORPHA:1945
HP:0007332	Focal hemifacial clonic seizure	2903	GRIN2A	ORPHA:1945
HP:0007332	Focal hemifacial clonic seizure	2566	GABRG2	ORPHA:1945
HP:0000179	Thick lower lip vermilion	5979	RET	OMIM:162300
HP:0000179	Thick lower lip vermilion	7528	YY1	ORPHA:506358
HP:0000179	Thick lower lip vermilion	7528	YY1	OMIM:617557
HP:0000179	Thick lower lip vermilion	8450	CUL4B	OMIM:300354
HP:0000179	Thick lower lip vermilion	8450	CUL4B	ORPHA:85293
HP:0000179	Thick lower lip vermilion	23394	ADNP	ORPHA:404448
HP:0000179	Thick lower lip vermilion	23394	ADNP	OMIM:615873
HP:0000179	Thick lower lip vermilion	27316	RBMX	OMIM:300238
HP:0000179	Thick lower lip vermilion	9759	HDAC4	OMIM:619797
HP:0000179	Thick lower lip vermilion	54517	PUS7	OMIM:618342
HP:0000179	Thick lower lip vermilion	6228	RPS23	OMIM:617412
HP:0000179	Thick lower lip vermilion	5894	RAF1	OMIM:611554
HP:0000179	Thick lower lip vermilion	5894	RAF1	ORPHA:648
HP:0000179	Thick lower lip vermilion	84282	RNF135	ORPHA:137634
HP:0000179	Thick lower lip vermilion	5457	POU4F1	ORPHA:314647
HP:0000179	Thick lower lip vermilion	23261	CAMTA1	ORPHA:314647
HP:0000179	Thick lower lip vermilion	23261	CAMTA1	OMIM:614756
HP:0000179	Thick lower lip vermilion	546	ATRX	OMIM:301040
HP:0000179	Thick lower lip vermilion	546	ATRX	ORPHA:847
HP:0000179	Thick lower lip vermilion	546	ATRX	OMIM:309580
HP:0000179	Thick lower lip vermilion	5745	PTH1R	OMIM:600002
HP:0000179	Thick lower lip vermilion	57465	TBC1D24	OMIM:220500
HP:0000179	Thick lower lip vermilion	57465	TBC1D24	ORPHA:79500
HP:0000179	Thick lower lip vermilion	57520	HECW2	OMIM:617268
HP:0000179	Thick lower lip vermilion	79639	TMEM53	OMIM:619727
HP:0000179	Thick lower lip vermilion	4758	NEU1	ORPHA:812
HP:0000179	Thick lower lip vermilion	6197	RPS6KA3	OMIM:303600
HP:0000179	Thick lower lip vermilion	6197	RPS6KA3	ORPHA:192
HP:0000179	Thick lower lip vermilion	6197	RPS6KA3	OMIM:300844
HP:0000179	Thick lower lip vermilion	1301	COL11A1	OMIM:154780
HP:0000179	Thick lower lip vermilion	1301	COL11A1	ORPHA:560
HP:0000179	Thick lower lip vermilion	56992	KIF15	ORPHA:261323
HP:0000179	Thick lower lip vermilion	23221	RHOBTB2	OMIM:618004
HP:0000179	Thick lower lip vermilion	57492	ARID1B	OMIM:135900
HP:0000179	Thick lower lip vermilion	57492	ARID1B	ORPHA:1465
HP:0000179	Thick lower lip vermilion	24140	FTSJ1	OMIM:309549
HP:0000179	Thick lower lip vermilion	6601	SMARCC2	OMIM:618362
HP:0000179	Thick lower lip vermilion	6601	SMARCC2	ORPHA:1465
HP:0000179	Thick lower lip vermilion	4052	LTBP1	OMIM:619451
HP:0000179	Thick lower lip vermilion	3899	AFF3	OMIM:619297
HP:0000179	Thick lower lip vermilion	3643	INSR	OMIM:246200
HP:0000179	Thick lower lip vermilion	6597	SMARCA4	ORPHA:1465
HP:0000179	Thick lower lip vermilion	6597	SMARCA4	OMIM:614609
HP:0000179	Thick lower lip vermilion	6598	SMARCB1	ORPHA:1465
HP:0000179	Thick lower lip vermilion	6659	SOX4	ORPHA:1465
HP:0000179	Thick lower lip vermilion	8289	ARID1A	ORPHA:1465
HP:0000179	Thick lower lip vermilion	8289	ARID1A	OMIM:614607
HP:0000179	Thick lower lip vermilion	5977	DPF2	ORPHA:1465
HP:0000179	Thick lower lip vermilion	5977	DPF2	OMIM:618027
HP:0000179	Thick lower lip vermilion	6602	SMARCD1	ORPHA:1465
HP:0000179	Thick lower lip vermilion	196528	ARID2	ORPHA:1465
HP:0000179	Thick lower lip vermilion	6605	SMARCE1	ORPHA:1465
HP:0000179	Thick lower lip vermilion	6605	SMARCE1	OMIM:616938
HP:0000179	Thick lower lip vermilion	6664	SOX11	ORPHA:1465
HP:0000179	Thick lower lip vermilion	2770	GNAI1	OMIM:619854
HP:0000179	Thick lower lip vermilion	9820	CUL7	OMIM:273750
HP:0000179	Thick lower lip vermilion	2200	FBN1	ORPHA:969
HP:0000179	Thick lower lip vermilion	2200	FBN1	OMIM:102370
HP:0000179	Thick lower lip vermilion	4054	LTBP3	ORPHA:969
HP:0000179	Thick lower lip vermilion	83550	GPR101	ORPHA:963
HP:0000179	Thick lower lip vermilion	9049	AIP	ORPHA:963
HP:0000179	Thick lower lip vermilion	2717	GLA	ORPHA:324
HP:0000179	Thick lower lip vermilion	1009	CDH11	OMIM:211380
HP:0000179	Thick lower lip vermilion	3265	HRAS	ORPHA:3071
HP:0000179	Thick lower lip vermilion	3265	HRAS	OMIM:218040
HP:0000179	Thick lower lip vermilion	25942	SIN3A	ORPHA:94065
HP:0000179	Thick lower lip vermilion	25942	SIN3A	OMIM:613406
HP:0000179	Thick lower lip vermilion	9839	ZEB2	ORPHA:261552
HP:0000179	Thick lower lip vermilion	9839	ZEB2	ORPHA:261537
HP:0000179	Thick lower lip vermilion	10524	KAT5	OMIM:619103
HP:0000179	Thick lower lip vermilion	8036	SHOC2	ORPHA:2701
HP:0000179	Thick lower lip vermilion	5500	PPP1CB	ORPHA:2701
HP:0000179	Thick lower lip vermilion	175	AGA	OMIM:208400
HP:0000179	Thick lower lip vermilion	3782	KCNN3	OMIM:618658
HP:0000179	Thick lower lip vermilion	10522	DEAF1	OMIM:615828
HP:0000179	Thick lower lip vermilion	81620	CDT1	OMIM:613804
HP:0000179	Thick lower lip vermilion	760	CA2	ORPHA:2785
HP:0000179	Thick lower lip vermilion	26227	PHGDH	OMIM:256520
HP:0000179	Thick lower lip vermilion	6611	SMS	ORPHA:3063
HP:0000179	Thick lower lip vermilion	6611	SMS	OMIM:309583
HP:0000179	Thick lower lip vermilion	6792	CDKL5	OMIM:300672
HP:0000179	Thick lower lip vermilion	253738	EBF3	OMIM:617330
HP:0000179	Thick lower lip vermilion	56006	SMG9	OMIM:616920
HP:0000179	Thick lower lip vermilion	2517	FUCA1	OMIM:230000
HP:0000179	Thick lower lip vermilion	1859	DYRK1A	OMIM:614104
HP:0000179	Thick lower lip vermilion	6804	STX1A	ORPHA:904
HP:0000179	Thick lower lip vermilion	7461	CLIP2	ORPHA:904
HP:0000179	Thick lower lip vermilion	84277	DNAJC30	ORPHA:904
HP:0000179	Thick lower lip vermilion	8468	FKBP6	ORPHA:904
HP:0000179	Thick lower lip vermilion	5982	RFC2	ORPHA:904
HP:0000179	Thick lower lip vermilion	2969	GTF2I	ORPHA:904
HP:0000179	Thick lower lip vermilion	3984	LIMK1	ORPHA:904
HP:0000179	Thick lower lip vermilion	9569	GTF2IRD1	ORPHA:904
HP:0000179	Thick lower lip vermilion	155382	VPS37D	ORPHA:904
HP:0000179	Thick lower lip vermilion	155368	METTL27	ORPHA:904
HP:0000179	Thick lower lip vermilion	114049	BUD23	ORPHA:904
HP:0000179	Thick lower lip vermilion	7458	EIF4H	ORPHA:904
HP:0000179	Thick lower lip vermilion	84163	GTF2IRD2	ORPHA:904
HP:0000179	Thick lower lip vermilion	9275	BCL7B	ORPHA:904
HP:0000179	Thick lower lip vermilion	26608	TBL2	ORPHA:904
HP:0000179	Thick lower lip vermilion	653361	NCF1	ORPHA:904
HP:0000179	Thick lower lip vermilion	135886	TMEM270	ORPHA:904
HP:0000179	Thick lower lip vermilion	51085	MLXIPL	ORPHA:904
HP:0000179	Thick lower lip vermilion	51085	MLXIPL	OMIM:194050
HP:0000179	Thick lower lip vermilion	9031	BAZ1B	ORPHA:904
HP:0000179	Thick lower lip vermilion	2006	ELN	ORPHA:904
HP:0000179	Thick lower lip vermilion	2006	ELN	OMIM:194050
HP:0000179	Thick lower lip vermilion	526	ATP6V1B2	ORPHA:79500
HP:0000179	Thick lower lip vermilion	10060	ABCC9	OMIM:239850
HP:0000179	Thick lower lip vermilion	23137	SMC5	OMIM:620185
HP:0000179	Thick lower lip vermilion	26137	ZBTB20	OMIM:259050
HP:0000179	Thick lower lip vermilion	79813	EHMT1	ORPHA:261652
HP:0000179	Thick lower lip vermilion	58508	KMT2C	ORPHA:261652
HP:0000179	Thick lower lip vermilion	55617	TASP1	OMIM:618950
HP:0000179	Thick lower lip vermilion	23067	SETD1B	OMIM:619000
HP:0000179	Thick lower lip vermilion	7358	UGDH	OMIM:618792
HP:0000179	Thick lower lip vermilion	92335	STRADA	OMIM:611087
HP:0000179	Thick lower lip vermilion	9968	MED12	OMIM:305450
HP:0000179	Thick lower lip vermilion	2799	GNS	OMIM:252940
HP:0000179	Thick lower lip vermilion	55691	FRMD4A	ORPHA:466688
HP:0000179	Thick lower lip vermilion	10430	TMEM147	OMIM:620075
HP:0000179	Thick lower lip vermilion	139285	AMER1	OMIM:300373
HP:0000179	Thick lower lip vermilion	1893	ECM1	ORPHA:530
HP:0000179	Thick lower lip vermilion	3423	IDS	OMIM:309900
HP:0000179	Thick lower lip vermilion	9487	PIGL	OMIM:280000
HP:0000179	Thick lower lip vermilion	84168	ANTXR1	OMIM:230740
HP:0000179	Thick lower lip vermilion	54187	NANS	OMIM:610442
HP:0000179	Thick lower lip vermilion	22800	RRAS2	ORPHA:648
HP:0000179	Thick lower lip vermilion	867	CBL	ORPHA:648
HP:0000179	Thick lower lip vermilion	8216	LZTR1	ORPHA:648
HP:0000179	Thick lower lip vermilion	6016	RIT1	ORPHA:648
HP:0000179	Thick lower lip vermilion	6237	RRAS	ORPHA:648
HP:0000179	Thick lower lip vermilion	22808	MRAS	ORPHA:648
HP:0000179	Thick lower lip vermilion	3845	KRAS	ORPHA:648
HP:0000179	Thick lower lip vermilion	200734	SPRED2	ORPHA:648
HP:0000179	Thick lower lip vermilion	4893	NRAS	ORPHA:648
HP:0000179	Thick lower lip vermilion	6654	SOS1	ORPHA:648
HP:0000179	Thick lower lip vermilion	6655	SOS2	ORPHA:648
HP:0000179	Thick lower lip vermilion	5781	PTPN11	ORPHA:648
HP:0000179	Thick lower lip vermilion	5922	RASA2	ORPHA:648
HP:0000179	Thick lower lip vermilion	6513	SLC2A1	ORPHA:1942
HP:0000179	Thick lower lip vermilion	8831	SYNGAP1	ORPHA:1942
HP:0000179	Thick lower lip vermilion	1173	AP2M1	ORPHA:1942
HP:0000179	Thick lower lip vermilion	6323	SCN1A	ORPHA:1942
HP:0000179	Thick lower lip vermilion	340533	NEXMIF	ORPHA:1942
HP:0000179	Thick lower lip vermilion	1106	CHD2	ORPHA:1942
HP:0000179	Thick lower lip vermilion	6529	SLC6A1	ORPHA:1942
HP:0000179	Thick lower lip vermilion	4668	NAGA	OMIM:609242
HP:0000179	Thick lower lip vermilion	6595	SMARCA2	OMIM:601358
HP:0000179	Thick lower lip vermilion	2316	FLNA	ORPHA:555877
HP:0000179	Thick lower lip vermilion	27077	B9D1	OMIM:617120
HP:0000179	Thick lower lip vermilion	3832	KIF11	OMIM:152950
HP:0000179	Thick lower lip vermilion	55331	ACER3	OMIM:617762
HP:0000179	Thick lower lip vermilion	2702	GJA5	OMIM:612474
HP:0000179	Thick lower lip vermilion	2703	GJA8	OMIM:612474
HP:0000179	Thick lower lip vermilion	5696	PSMB8	OMIM:256040
HP:0000179	Thick lower lip vermilion	10075	HUWE1	OMIM:309590
HP:0000172	Abnormal uvula morphology	710	SERPING1	ORPHA:100050
HP:0000172	Abnormal uvula morphology	10195	ALG3	ORPHA:79321
HP:0000172	Abnormal uvula morphology	3476	IGBP1	OMIM:300472
HP:0000172	Abnormal uvula morphology	9949	AMMECR1	OMIM:300990
HP:0000172	Abnormal uvula morphology	2737	GLI3	ORPHA:672
HP:0000172	Abnormal uvula morphology	4088	SMAD3	ORPHA:284984
HP:0000172	Abnormal uvula morphology	4088	SMAD3	OMIM:613795
HP:0000172	Abnormal uvula morphology	274	BIN1	ORPHA:169186
HP:0000172	Abnormal uvula morphology	10290	SPEG	ORPHA:169186
HP:0000172	Abnormal uvula morphology	10290	SPEG	OMIM:615959
HP:0000172	Abnormal uvula morphology	6261	RYR1	ORPHA:169186
HP:0000172	Abnormal uvula morphology	7273	TTN	ORPHA:169186
HP:0000172	Abnormal uvula morphology	85465	SELENOI	ORPHA:506353
HP:0000172	Abnormal uvula morphology	85465	SELENOI	OMIM:618768
HP:0000172	Abnormal uvula morphology	6477	SIAH1	OMIM:619314
HP:0000172	Abnormal uvula morphology	2138	EYA1	OMIM:113650
HP:0000172	Abnormal uvula morphology	6495	SIX1	OMIM:113650
HP:0000172	Abnormal uvula morphology	23135	KDM6B	OMIM:618505
HP:0000172	Abnormal uvula morphology	6228	RPS23	OMIM:617412
HP:0000172	Abnormal uvula morphology	6885	MAP3K7	OMIM:617137
HP:0000172	Abnormal uvula morphology	6885	MAP3K7	ORPHA:1826
HP:0000172	Abnormal uvula morphology	55627	SMPD4	OMIM:618622
HP:0000172	Abnormal uvula morphology	55209	SETD5	ORPHA:404440
HP:0000172	Abnormal uvula morphology	3190	HNRNPK	ORPHA:453504
HP:0000172	Abnormal uvula morphology	3190	HNRNPK	OMIM:616580
HP:0000172	Abnormal uvula morphology	3190	HNRNPK	ORPHA:352665
HP:0000172	Abnormal uvula morphology	7314	UBB	ORPHA:99771
HP:0000172	Abnormal uvula morphology	57822	GRHL3	ORPHA:99771
HP:0000172	Abnormal uvula morphology	1301	COL11A1	OMIM:604841
HP:0000172	Abnormal uvula morphology	1301	COL11A1	OMIM:154780
HP:0000172	Abnormal uvula morphology	23498	HAAO	OMIM:617660
HP:0000172	Abnormal uvula morphology	374654	KIF7	OMIM:200990
HP:0000172	Abnormal uvula morphology	374654	KIF7	ORPHA:2189
HP:0000172	Abnormal uvula morphology	6651	SON	OMIM:617140
HP:0000172	Abnormal uvula morphology	6651	SON	ORPHA:500150
HP:0000172	Abnormal uvula morphology	3664	IRF6	OMIM:119500
HP:0000172	Abnormal uvula morphology	3664	IRF6	OMIM:119300
HP:0000172	Abnormal uvula morphology	83479	DDX59	OMIM:174300
HP:0000172	Abnormal uvula morphology	83479	DDX59	ORPHA:2919
HP:0000172	Abnormal uvula morphology	80055	PGAP1	OMIM:615802
HP:0000172	Abnormal uvula morphology	84892	POMGNT2	ORPHA:899
HP:0000172	Abnormal uvula morphology	148789	B3GALNT2	ORPHA:899
HP:0000172	Abnormal uvula morphology	79147	FKRP	ORPHA:899
HP:0000172	Abnormal uvula morphology	29954	POMT2	ORPHA:899
HP:0000172	Abnormal uvula morphology	9215	LARGE1	ORPHA:899
HP:0000172	Abnormal uvula morphology	1282	COL4A1	ORPHA:899
HP:0000172	Abnormal uvula morphology	729920	CRPPA	ORPHA:899
HP:0000172	Abnormal uvula morphology	10329	RXYLT1	ORPHA:899
HP:0000172	Abnormal uvula morphology	1605	DAG1	ORPHA:899
HP:0000172	Abnormal uvula morphology	11041	B4GAT1	ORPHA:899
HP:0000172	Abnormal uvula morphology	10585	POMT1	ORPHA:899
HP:0000172	Abnormal uvula morphology	84197	POMK	ORPHA:899
HP:0000172	Abnormal uvula morphology	2218	FKTN	ORPHA:899
HP:0000172	Abnormal uvula morphology	55624	POMGNT1	ORPHA:899
HP:0000172	Abnormal uvula morphology	79068	FTO	OMIM:612938
HP:0000172	Abnormal uvula morphology	1741	DLG3	OMIM:300850
HP:0000172	Abnormal uvula morphology	2263	FGFR2	ORPHA:87
HP:0000172	Abnormal uvula morphology	2263	FGFR2	OMIM:123790
HP:0000172	Abnormal uvula morphology	2263	FGFR2	ORPHA:2363
HP:0000172	Abnormal uvula morphology	2263	FGFR2	OMIM:101200
HP:0000172	Abnormal uvula morphology	10735	STAG2	OMIM:301022
HP:0000172	Abnormal uvula morphology	10735	STAG2	ORPHA:93925
HP:0000172	Abnormal uvula morphology	10735	STAG2	ORPHA:220386
HP:0000172	Abnormal uvula morphology	84992	PIGY	ORPHA:247262
HP:0000172	Abnormal uvula morphology	84720	PIGO	ORPHA:247262
HP:0000172	Abnormal uvula morphology	93210	PGAP3	ORPHA:247262
HP:0000172	Abnormal uvula morphology	284098	PIGW	ORPHA:247262
HP:0000172	Abnormal uvula morphology	27315	PGAP2	ORPHA:247262
HP:0000172	Abnormal uvula morphology	55650	PIGV	ORPHA:247262
HP:0000172	Abnormal uvula morphology	9487	PIGL	ORPHA:247262
HP:0000172	Abnormal uvula morphology	80204	FBXO11	OMIM:618089
HP:0000172	Abnormal uvula morphology	1108	CHD4	OMIM:617159
HP:0000172	Abnormal uvula morphology	64131	XYLT1	OMIM:615777
HP:0000172	Abnormal uvula morphology	81620	CDT1	ORPHA:2554
HP:0000172	Abnormal uvula morphology	5000	ORC4	ORPHA:2554
HP:0000172	Abnormal uvula morphology	23594	ORC6	ORPHA:2554
HP:0000172	Abnormal uvula morphology	8318	CDC45	ORPHA:2554
HP:0000172	Abnormal uvula morphology	990	CDC6	ORPHA:2554
HP:0000172	Abnormal uvula morphology	4998	ORC1	ORPHA:2554
HP:0000172	Abnormal uvula morphology	51053	GMNN	ORPHA:2554
HP:0000172	Abnormal uvula morphology	1009	CDH11	OMIM:211380
HP:0000172	Abnormal uvula morphology	1009	CDH11	ORPHA:1299
HP:0000172	Abnormal uvula morphology	444	ASPH	OMIM:601552
HP:0000172	Abnormal uvula morphology	6469	SHH	OMIM:142945
HP:0000172	Abnormal uvula morphology	6469	SHH	ORPHA:93926
HP:0000172	Abnormal uvula morphology	6469	SHH	ORPHA:93924
HP:0000172	Abnormal uvula morphology	6469	SHH	ORPHA:93925
HP:0000172	Abnormal uvula morphology	6469	SHH	ORPHA:220386
HP:0000172	Abnormal uvula morphology	1717	DHCR7	OMIM:270400
HP:0000172	Abnormal uvula morphology	9401	RECQL4	OMIM:218600
HP:0000172	Abnormal uvula morphology	5422	POLA1	OMIM:301030
HP:0000172	Abnormal uvula morphology	6899	TBX1	OMIM:188400
HP:0000172	Abnormal uvula morphology	9839	ZEB2	ORPHA:261552
HP:0000172	Abnormal uvula morphology	9839	ZEB2	ORPHA:261537
HP:0000172	Abnormal uvula morphology	10484	SEC23A	OMIM:607812
HP:0000172	Abnormal uvula morphology	652	BMP4	OMIM:607932
HP:0000172	Abnormal uvula morphology	633	BGN	OMIM:300989
HP:0000172	Abnormal uvula morphology	80776	B9D2	OMIM:614175
HP:0000172	Abnormal uvula morphology	28514	DLL1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	28514	DLL1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	28514	DLL1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	28514	DLL1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	2253	FGF8	ORPHA:93926
HP:0000172	Abnormal uvula morphology	2253	FGF8	ORPHA:93924
HP:0000172	Abnormal uvula morphology	2253	FGF8	ORPHA:93925
HP:0000172	Abnormal uvula morphology	2253	FGF8	ORPHA:220386
HP:0000172	Abnormal uvula morphology	6496	SIX3	ORPHA:93926
HP:0000172	Abnormal uvula morphology	6496	SIX3	ORPHA:93924
HP:0000172	Abnormal uvula morphology	6496	SIX3	ORPHA:93925
HP:0000172	Abnormal uvula morphology	6496	SIX3	ORPHA:220386
HP:0000172	Abnormal uvula morphology	6496	SIX3	OMIM:157170
HP:0000172	Abnormal uvula morphology	7050	TGIF1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	7050	TGIF1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	7050	TGIF1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	7050	TGIF1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	4838	NODAL	ORPHA:93926
HP:0000172	Abnormal uvula morphology	4838	NODAL	ORPHA:93924
HP:0000172	Abnormal uvula morphology	4838	NODAL	ORPHA:93925
HP:0000172	Abnormal uvula morphology	4838	NODAL	ORPHA:220386
HP:0000172	Abnormal uvula morphology	7546	ZIC2	ORPHA:93926
HP:0000172	Abnormal uvula morphology	7546	ZIC2	ORPHA:93924
HP:0000172	Abnormal uvula morphology	7546	ZIC2	ORPHA:93925
HP:0000172	Abnormal uvula morphology	7546	ZIC2	ORPHA:220386
HP:0000172	Abnormal uvula morphology	6491	STIL	ORPHA:93926
HP:0000172	Abnormal uvula morphology	6491	STIL	ORPHA:93924
HP:0000172	Abnormal uvula morphology	6491	STIL	ORPHA:93925
HP:0000172	Abnormal uvula morphology	6491	STIL	ORPHA:220386
HP:0000172	Abnormal uvula morphology	2619	GAS1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	2619	GAS1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	2619	GAS1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	2619	GAS1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	84976	DISP1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	84976	DISP1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	84976	DISP1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	84976	DISP1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	2736	GLI2	ORPHA:93926
HP:0000172	Abnormal uvula morphology	2736	GLI2	ORPHA:93924
HP:0000172	Abnormal uvula morphology	2736	GLI2	ORPHA:93925
HP:0000172	Abnormal uvula morphology	2736	GLI2	ORPHA:220386
HP:0000172	Abnormal uvula morphology	8928	FOXH1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	8928	FOXH1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	8928	FOXH1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	8928	FOXH1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	5727	PTCH1	ORPHA:93926
HP:0000172	Abnormal uvula morphology	5727	PTCH1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	5727	PTCH1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	5727	PTCH1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	50937	CDON	ORPHA:93926
HP:0000172	Abnormal uvula morphology	50937	CDON	ORPHA:93924
HP:0000172	Abnormal uvula morphology	50937	CDON	ORPHA:93925
HP:0000172	Abnormal uvula morphology	50937	CDON	ORPHA:220386
HP:0000172	Abnormal uvula morphology	2260	FGFR1	ORPHA:93924
HP:0000172	Abnormal uvula morphology	2260	FGFR1	ORPHA:220386
HP:0000172	Abnormal uvula morphology	124512	METTL23	OMIM:615942
HP:0000172	Abnormal uvula morphology	23007	PLCH1	ORPHA:93925
HP:0000172	Abnormal uvula morphology	1906	EDN1	ORPHA:137888
HP:0000172	Abnormal uvula morphology	1906	EDN1	OMIM:615706
HP:0000172	Abnormal uvula morphology	5332	PLCB4	ORPHA:137888
HP:0000172	Abnormal uvula morphology	2773	GNAI3	ORPHA:137888
HP:0000172	Abnormal uvula morphology	6602	SMARCD1	OMIM:618779
HP:0000172	Abnormal uvula morphology	3782	KCNN3	OMIM:618658
HP:0000172	Abnormal uvula morphology	3782	KCNN3	ORPHA:3473
HP:0000172	Abnormal uvula morphology	139285	AMER1	ORPHA:2780
HP:0000172	Abnormal uvula morphology	139285	AMER1	OMIM:300373
HP:0000172	Abnormal uvula morphology	1280	COL2A1	OMIM:183900
HP:0000172	Abnormal uvula morphology	1280	COL2A1	OMIM:108300
HP:0000172	Abnormal uvula morphology	6638	SNRPN	ORPHA:177907
HP:0000172	Abnormal uvula morphology	526	ATP6V1B2	ORPHA:3473
HP:0000172	Abnormal uvula morphology	3756	KCNH1	ORPHA:3473
HP:0000172	Abnormal uvula morphology	6234	RPS28	OMIM:606164
HP:0000172	Abnormal uvula morphology	11285	B4GALT7	OMIM:130070
HP:0000172	Abnormal uvula morphology	23347	SMCHD1	ORPHA:2250
HP:0000172	Abnormal uvula morphology	6905	TBCE	OMIM:241410
HP:0000172	Abnormal uvula morphology	63895	PIEZO2	OMIM:114300
HP:0000172	Abnormal uvula morphology	63895	PIEZO2	ORPHA:2461
HP:0000172	Abnormal uvula morphology	29895	MYL11	OMIM:619110
HP:0000172	Abnormal uvula morphology	23126	POGZ	OMIM:616364
HP:0000172	Abnormal uvula morphology	6125	RPL5	OMIM:612561
HP:0000172	Abnormal uvula morphology	9791	PTDSS1	ORPHA:2658
HP:0000172	Abnormal uvula morphology	8452	CUL3	OMIM:619239
HP:0000172	Abnormal uvula morphology	8626	TP63	OMIM:129400
HP:0000172	Abnormal uvula morphology	8626	TP63	OMIM:603543
HP:0000172	Abnormal uvula morphology	8626	TP63	ORPHA:69085
HP:0000172	Abnormal uvula morphology	246329	STAC3	ORPHA:168572
HP:0000172	Abnormal uvula morphology	8085	KMT2D	OMIM:620186
HP:0000172	Abnormal uvula morphology	10907	TXNL4A	OMIM:608572
HP:0000172	Abnormal uvula morphology	388015	RTL1	ORPHA:96184
HP:0000172	Abnormal uvula morphology	8788	DLK1	ORPHA:96184
HP:0000172	Abnormal uvula morphology	55384	MEG3	ORPHA:96184
HP:0000172	Abnormal uvula morphology	11198	SUPT16H	OMIM:619480
HP:0000172	Abnormal uvula morphology	79796	ALG9	ORPHA:79328
HP:0000172	Abnormal uvula morphology	284252	KCTD1	OMIM:181270
HP:0000172	Abnormal uvula morphology	54880	BCOR	OMIM:300166
HP:0000172	Abnormal uvula morphology	1718	DHCR24	ORPHA:35107
HP:0000172	Abnormal uvula morphology	51305	KCNK9	OMIM:612292
HP:0000172	Abnormal uvula morphology	8239	USP9X	OMIM:300968
HP:0000172	Abnormal uvula morphology	6472	SHMT2	OMIM:619121
HP:0000172	Abnormal uvula morphology	9928	KIF14	OMIM:616258
HP:0000172	Abnormal uvula morphology	1654	DDX3X	OMIM:300958
HP:0000172	Abnormal uvula morphology	5500	PPP1CB	OMIM:617506
HP:0000172	Abnormal uvula morphology	2261	FGFR3	ORPHA:2363
HP:0000172	Abnormal uvula morphology	2255	FGF10	ORPHA:2363
HP:0000172	Abnormal uvula morphology	3373	HYAL1	OMIM:601492
HP:0000172	Abnormal uvula morphology	50945	TBX22	OMIM:303400
HP:0000172	Abnormal uvula morphology	23314	SATB2	ORPHA:576283
HP:0000172	Abnormal uvula morphology	81031	SLC2A10	OMIM:208050
HP:0000172	Abnormal uvula morphology	23483	TGDS	OMIM:616145
HP:0000172	Abnormal uvula morphology	9652	SKIC3	OMIM:222470
HP:0000172	Abnormal uvula morphology	8243	SMC1A	ORPHA:220386
HP:0000172	Abnormal uvula morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000172	Abnormal uvula morphology	6611	SMS	OMIM:309583
HP:0000172	Abnormal uvula morphology	5236	PGM1	OMIM:614921
HP:0000172	Abnormal uvula morphology	7048	TGFBR2	OMIM:610168
HP:0000172	Abnormal uvula morphology	7048	TGFBR2	ORPHA:60030
HP:0000172	Abnormal uvula morphology	2316	FLNA	ORPHA:1826
HP:0000172	Abnormal uvula morphology	23522	KAT6B	ORPHA:3047
HP:0000172	Abnormal uvula morphology	1302	COL11A2	ORPHA:1427
HP:0000172	Abnormal uvula morphology	79583	TMEM231	ORPHA:2752
HP:0000172	Abnormal uvula morphology	26123	TCTN3	ORPHA:2753
HP:0000172	Abnormal uvula morphology	9742	IFT140	OMIM:266920
HP:0000172	Abnormal uvula morphology	9775	EIF4A3	OMIM:268305
HP:0000172	Abnormal uvula morphology	7043	TGFB3	OMIM:615582
HP:0000172	Abnormal uvula morphology	91252	SLC39A13	OMIM:612350
HP:0000172	Abnormal uvula morphology	2702	GJA5	OMIM:612474
HP:0000172	Abnormal uvula morphology	2703	GJA8	OMIM:612474
HP:0000172	Abnormal uvula morphology	7046	TGFBR1	ORPHA:60030
HP:0000172	Abnormal uvula morphology	7046	TGFBR1	OMIM:609192
HP:0000172	Abnormal uvula morphology	219844	HYLS1	ORPHA:2189
HP:0000172	Abnormal uvula morphology	58508	KMT2C	OMIM:617768
HP:0000172	Abnormal uvula morphology	4089	SMAD4	ORPHA:2588
HP:0000172	Abnormal uvula morphology	4920	ROR2	OMIM:268310
HP:0000172	Abnormal uvula morphology	64359	NXN	OMIM:618529
HP:0000172	Abnormal uvula morphology	5297	PI4KA	OMIM:616531
HP:0000172	Abnormal uvula morphology	5297	PI4KA	OMIM:619708
HP:0000172	Abnormal uvula morphology	672	BRCA1	ORPHA:84
HP:0000172	Abnormal uvula morphology	10459	MAD2L2	ORPHA:84
HP:0000172	Abnormal uvula morphology	7516	XRCC2	ORPHA:84
HP:0000172	Abnormal uvula morphology	29089	UBE2T	ORPHA:84
HP:0000172	Abnormal uvula morphology	675	BRCA2	ORPHA:84
HP:0000172	Abnormal uvula morphology	55120	FANCL	ORPHA:84
HP:0000172	Abnormal uvula morphology	2177	FANCD2	ORPHA:84
HP:0000172	Abnormal uvula morphology	2175	FANCA	ORPHA:84
HP:0000172	Abnormal uvula morphology	2187	FANCB	ORPHA:84
HP:0000172	Abnormal uvula morphology	2176	FANCC	ORPHA:84
HP:0000172	Abnormal uvula morphology	2178	FANCE	ORPHA:84
HP:0000172	Abnormal uvula morphology	2188	FANCF	ORPHA:84
HP:0000172	Abnormal uvula morphology	2189	FANCG	ORPHA:84
HP:0000172	Abnormal uvula morphology	5888	RAD51	ORPHA:84
HP:0000172	Abnormal uvula morphology	5889	RAD51C	ORPHA:84
HP:0000172	Abnormal uvula morphology	55159	RFWD3	ORPHA:84
HP:0000172	Abnormal uvula morphology	83990	BRIP1	ORPHA:84
HP:0000172	Abnormal uvula morphology	57697	FANCM	ORPHA:84
HP:0000172	Abnormal uvula morphology	79728	PALB2	ORPHA:84
HP:0000172	Abnormal uvula morphology	84464	SLX4	ORPHA:84
HP:0000172	Abnormal uvula morphology	2072	ERCC4	ORPHA:84
HP:0000172	Abnormal uvula morphology	55215	FANCI	ORPHA:84
HP:0000172	Abnormal uvula morphology	7042	TGFB2	OMIM:614816
HP:0000172	Abnormal uvula morphology	10526	IPO8	OMIM:619472
HP:0000172	Abnormal uvula morphology	165	AEBP1	ORPHA:536532
HP:0000172	Abnormal uvula morphology	57479	PRR12	OMIM:619539
HP:0000172	Abnormal uvula morphology	57539	WDR35	OMIM:614091
HP:0000172	Abnormal uvula morphology	6711	SPTBN1	OMIM:619475
HP:0000193	Bifid uvula	3476	IGBP1	OMIM:300472
HP:0000193	Bifid uvula	9949	AMMECR1	OMIM:300990
HP:0000193	Bifid uvula	2737	GLI3	ORPHA:672
HP:0000193	Bifid uvula	4088	SMAD3	ORPHA:284984
HP:0000193	Bifid uvula	4088	SMAD3	OMIM:613795
HP:0000193	Bifid uvula	274	BIN1	ORPHA:169186
HP:0000193	Bifid uvula	10290	SPEG	ORPHA:169186
HP:0000193	Bifid uvula	10290	SPEG	OMIM:615959
HP:0000193	Bifid uvula	6261	RYR1	ORPHA:169186
HP:0000193	Bifid uvula	7273	TTN	ORPHA:169186
HP:0000193	Bifid uvula	85465	SELENOI	ORPHA:506353
HP:0000193	Bifid uvula	85465	SELENOI	OMIM:618768
HP:0000193	Bifid uvula	6477	SIAH1	OMIM:619314
HP:0000193	Bifid uvula	2138	EYA1	OMIM:113650
HP:0000193	Bifid uvula	6495	SIX1	OMIM:113650
HP:0000193	Bifid uvula	23135	KDM6B	OMIM:618505
HP:0000193	Bifid uvula	6228	RPS23	OMIM:617412
HP:0000193	Bifid uvula	6885	MAP3K7	OMIM:617137
HP:0000193	Bifid uvula	6885	MAP3K7	ORPHA:1826
HP:0000193	Bifid uvula	55627	SMPD4	OMIM:618622
HP:0000193	Bifid uvula	55209	SETD5	ORPHA:404440
HP:0000193	Bifid uvula	3190	HNRNPK	ORPHA:453504
HP:0000193	Bifid uvula	3190	HNRNPK	OMIM:616580
HP:0000193	Bifid uvula	3190	HNRNPK	ORPHA:352665
HP:0000193	Bifid uvula	7314	UBB	ORPHA:99771
HP:0000193	Bifid uvula	57822	GRHL3	ORPHA:99771
HP:0000193	Bifid uvula	1301	COL11A1	OMIM:604841
HP:0000193	Bifid uvula	1301	COL11A1	OMIM:154780
HP:0000193	Bifid uvula	23498	HAAO	OMIM:617660
HP:0000193	Bifid uvula	374654	KIF7	OMIM:200990
HP:0000193	Bifid uvula	374654	KIF7	ORPHA:2189
HP:0000193	Bifid uvula	6651	SON	OMIM:617140
HP:0000193	Bifid uvula	6651	SON	ORPHA:500150
HP:0000193	Bifid uvula	3664	IRF6	OMIM:119500
HP:0000193	Bifid uvula	3664	IRF6	OMIM:119300
HP:0000193	Bifid uvula	83479	DDX59	OMIM:174300
HP:0000193	Bifid uvula	83479	DDX59	ORPHA:2919
HP:0000193	Bifid uvula	80055	PGAP1	OMIM:615802
HP:0000193	Bifid uvula	84892	POMGNT2	ORPHA:899
HP:0000193	Bifid uvula	148789	B3GALNT2	ORPHA:899
HP:0000193	Bifid uvula	79147	FKRP	ORPHA:899
HP:0000193	Bifid uvula	29954	POMT2	ORPHA:899
HP:0000193	Bifid uvula	9215	LARGE1	ORPHA:899
HP:0000193	Bifid uvula	1282	COL4A1	ORPHA:899
HP:0000193	Bifid uvula	729920	CRPPA	ORPHA:899
HP:0000193	Bifid uvula	10329	RXYLT1	ORPHA:899
HP:0000193	Bifid uvula	1605	DAG1	ORPHA:899
HP:0000193	Bifid uvula	11041	B4GAT1	ORPHA:899
HP:0000193	Bifid uvula	10585	POMT1	ORPHA:899
HP:0000193	Bifid uvula	84197	POMK	ORPHA:899
HP:0000193	Bifid uvula	2218	FKTN	ORPHA:899
HP:0000193	Bifid uvula	55624	POMGNT1	ORPHA:899
HP:0000193	Bifid uvula	79068	FTO	OMIM:612938
HP:0000193	Bifid uvula	1741	DLG3	OMIM:300850
HP:0000193	Bifid uvula	2263	FGFR2	ORPHA:87
HP:0000193	Bifid uvula	2263	FGFR2	OMIM:123790
HP:0000193	Bifid uvula	2263	FGFR2	ORPHA:2363
HP:0000193	Bifid uvula	2263	FGFR2	OMIM:101200
HP:0000193	Bifid uvula	10735	STAG2	OMIM:301022
HP:0000193	Bifid uvula	10735	STAG2	ORPHA:93925
HP:0000193	Bifid uvula	10735	STAG2	ORPHA:220386
HP:0000193	Bifid uvula	84992	PIGY	ORPHA:247262
HP:0000193	Bifid uvula	84720	PIGO	ORPHA:247262
HP:0000193	Bifid uvula	93210	PGAP3	ORPHA:247262
HP:0000193	Bifid uvula	284098	PIGW	ORPHA:247262
HP:0000193	Bifid uvula	27315	PGAP2	ORPHA:247262
HP:0000193	Bifid uvula	55650	PIGV	ORPHA:247262
HP:0000193	Bifid uvula	9487	PIGL	ORPHA:247262
HP:0000193	Bifid uvula	80204	FBXO11	OMIM:618089
HP:0000193	Bifid uvula	1108	CHD4	OMIM:617159
HP:0000193	Bifid uvula	64131	XYLT1	OMIM:615777
HP:0000193	Bifid uvula	81620	CDT1	ORPHA:2554
HP:0000193	Bifid uvula	5000	ORC4	ORPHA:2554
HP:0000193	Bifid uvula	23594	ORC6	ORPHA:2554
HP:0000193	Bifid uvula	8318	CDC45	ORPHA:2554
HP:0000193	Bifid uvula	990	CDC6	ORPHA:2554
HP:0000193	Bifid uvula	4998	ORC1	ORPHA:2554
HP:0000193	Bifid uvula	51053	GMNN	ORPHA:2554
HP:0000193	Bifid uvula	1009	CDH11	OMIM:211380
HP:0000193	Bifid uvula	1009	CDH11	ORPHA:1299
HP:0000193	Bifid uvula	444	ASPH	OMIM:601552
HP:0000193	Bifid uvula	6469	SHH	OMIM:142945
HP:0000193	Bifid uvula	6469	SHH	ORPHA:93926
HP:0000193	Bifid uvula	6469	SHH	ORPHA:93924
HP:0000193	Bifid uvula	6469	SHH	ORPHA:93925
HP:0000193	Bifid uvula	6469	SHH	ORPHA:220386
HP:0000193	Bifid uvula	1717	DHCR7	OMIM:270400
HP:0000193	Bifid uvula	9401	RECQL4	OMIM:218600
HP:0000193	Bifid uvula	5422	POLA1	OMIM:301030
HP:0000193	Bifid uvula	6899	TBX1	OMIM:188400
HP:0000193	Bifid uvula	9839	ZEB2	ORPHA:261552
HP:0000193	Bifid uvula	9839	ZEB2	ORPHA:261537
HP:0000193	Bifid uvula	10484	SEC23A	OMIM:607812
HP:0000193	Bifid uvula	652	BMP4	OMIM:607932
HP:0000193	Bifid uvula	633	BGN	OMIM:300989
HP:0000193	Bifid uvula	80776	B9D2	OMIM:614175
HP:0000193	Bifid uvula	28514	DLL1	ORPHA:93926
HP:0000193	Bifid uvula	28514	DLL1	ORPHA:93924
HP:0000193	Bifid uvula	28514	DLL1	ORPHA:93925
HP:0000193	Bifid uvula	28514	DLL1	ORPHA:220386
HP:0000193	Bifid uvula	2253	FGF8	ORPHA:93926
HP:0000193	Bifid uvula	2253	FGF8	ORPHA:93924
HP:0000193	Bifid uvula	2253	FGF8	ORPHA:93925
HP:0000193	Bifid uvula	2253	FGF8	ORPHA:220386
HP:0000193	Bifid uvula	6496	SIX3	ORPHA:93926
HP:0000193	Bifid uvula	6496	SIX3	ORPHA:93924
HP:0000193	Bifid uvula	6496	SIX3	ORPHA:93925
HP:0000193	Bifid uvula	6496	SIX3	ORPHA:220386
HP:0000193	Bifid uvula	6496	SIX3	OMIM:157170
HP:0000193	Bifid uvula	7050	TGIF1	ORPHA:93926
HP:0000193	Bifid uvula	7050	TGIF1	ORPHA:93924
HP:0000193	Bifid uvula	7050	TGIF1	ORPHA:93925
HP:0000193	Bifid uvula	7050	TGIF1	ORPHA:220386
HP:0000193	Bifid uvula	4838	NODAL	ORPHA:93926
HP:0000193	Bifid uvula	4838	NODAL	ORPHA:93924
HP:0000193	Bifid uvula	4838	NODAL	ORPHA:93925
HP:0000193	Bifid uvula	4838	NODAL	ORPHA:220386
HP:0000193	Bifid uvula	7546	ZIC2	ORPHA:93926
HP:0000193	Bifid uvula	7546	ZIC2	ORPHA:93924
HP:0000193	Bifid uvula	7546	ZIC2	ORPHA:93925
HP:0000193	Bifid uvula	7546	ZIC2	ORPHA:220386
HP:0000193	Bifid uvula	6491	STIL	ORPHA:93926
HP:0000193	Bifid uvula	6491	STIL	ORPHA:93924
HP:0000193	Bifid uvula	6491	STIL	ORPHA:93925
HP:0000193	Bifid uvula	6491	STIL	ORPHA:220386
HP:0000193	Bifid uvula	2619	GAS1	ORPHA:93926
HP:0000193	Bifid uvula	2619	GAS1	ORPHA:93924
HP:0000193	Bifid uvula	2619	GAS1	ORPHA:93925
HP:0000193	Bifid uvula	2619	GAS1	ORPHA:220386
HP:0000193	Bifid uvula	84976	DISP1	ORPHA:93926
HP:0000193	Bifid uvula	84976	DISP1	ORPHA:93924
HP:0000193	Bifid uvula	84976	DISP1	ORPHA:93925
HP:0000193	Bifid uvula	84976	DISP1	ORPHA:220386
HP:0000193	Bifid uvula	2736	GLI2	ORPHA:93926
HP:0000193	Bifid uvula	2736	GLI2	ORPHA:93924
HP:0000193	Bifid uvula	2736	GLI2	ORPHA:93925
HP:0000193	Bifid uvula	2736	GLI2	ORPHA:220386
HP:0000193	Bifid uvula	8928	FOXH1	ORPHA:93926
HP:0000193	Bifid uvula	8928	FOXH1	ORPHA:93924
HP:0000193	Bifid uvula	8928	FOXH1	ORPHA:93925
HP:0000193	Bifid uvula	8928	FOXH1	ORPHA:220386
HP:0000193	Bifid uvula	5727	PTCH1	ORPHA:93926
HP:0000193	Bifid uvula	5727	PTCH1	ORPHA:93924
HP:0000193	Bifid uvula	5727	PTCH1	ORPHA:93925
HP:0000193	Bifid uvula	5727	PTCH1	ORPHA:220386
HP:0000193	Bifid uvula	50937	CDON	ORPHA:93926
HP:0000193	Bifid uvula	50937	CDON	ORPHA:93924
HP:0000193	Bifid uvula	50937	CDON	ORPHA:93925
HP:0000193	Bifid uvula	50937	CDON	ORPHA:220386
HP:0000193	Bifid uvula	2260	FGFR1	ORPHA:93924
HP:0000193	Bifid uvula	2260	FGFR1	ORPHA:220386
HP:0000193	Bifid uvula	124512	METTL23	OMIM:615942
HP:0000193	Bifid uvula	23007	PLCH1	ORPHA:93925
HP:0000193	Bifid uvula	1906	EDN1	ORPHA:137888
HP:0000193	Bifid uvula	1906	EDN1	OMIM:615706
HP:0000193	Bifid uvula	5332	PLCB4	ORPHA:137888
HP:0000193	Bifid uvula	2773	GNAI3	ORPHA:137888
HP:0000193	Bifid uvula	6602	SMARCD1	OMIM:618779
HP:0000193	Bifid uvula	3782	KCNN3	OMIM:618658
HP:0000193	Bifid uvula	3782	KCNN3	ORPHA:3473
HP:0000193	Bifid uvula	139285	AMER1	ORPHA:2780
HP:0000193	Bifid uvula	139285	AMER1	OMIM:300373
HP:0000193	Bifid uvula	1280	COL2A1	OMIM:183900
HP:0000193	Bifid uvula	1280	COL2A1	OMIM:108300
HP:0000193	Bifid uvula	6638	SNRPN	ORPHA:177907
HP:0000193	Bifid uvula	526	ATP6V1B2	ORPHA:3473
HP:0000193	Bifid uvula	3756	KCNH1	ORPHA:3473
HP:0000193	Bifid uvula	6234	RPS28	OMIM:606164
HP:0000193	Bifid uvula	11285	B4GALT7	OMIM:130070
HP:0000193	Bifid uvula	23347	SMCHD1	ORPHA:2250
HP:0000193	Bifid uvula	6905	TBCE	OMIM:241410
HP:0000193	Bifid uvula	63895	PIEZO2	OMIM:114300
HP:0000193	Bifid uvula	63895	PIEZO2	ORPHA:2461
HP:0000193	Bifid uvula	10526	IPO8	OMIM:619472
HP:0000193	Bifid uvula	10526	IPO8	ORPHA:60030
HP:0000193	Bifid uvula	29895	MYL11	OMIM:619110
HP:0000193	Bifid uvula	23126	POGZ	OMIM:616364
HP:0000193	Bifid uvula	6125	RPL5	OMIM:612561
HP:0000193	Bifid uvula	9791	PTDSS1	ORPHA:2658
HP:0000193	Bifid uvula	8452	CUL3	OMIM:619239
HP:0000193	Bifid uvula	8626	TP63	OMIM:129400
HP:0000193	Bifid uvula	8626	TP63	OMIM:603543
HP:0000193	Bifid uvula	8626	TP63	ORPHA:69085
HP:0000193	Bifid uvula	246329	STAC3	ORPHA:168572
HP:0000193	Bifid uvula	8085	KMT2D	OMIM:620186
HP:0000193	Bifid uvula	10907	TXNL4A	OMIM:608572
HP:0000193	Bifid uvula	388015	RTL1	ORPHA:96184
HP:0000193	Bifid uvula	8788	DLK1	ORPHA:96184
HP:0000193	Bifid uvula	55384	MEG3	ORPHA:96184
HP:0000193	Bifid uvula	11198	SUPT16H	OMIM:619480
HP:0000193	Bifid uvula	79796	ALG9	ORPHA:79328
HP:0000193	Bifid uvula	284252	KCTD1	OMIM:181270
HP:0000193	Bifid uvula	54880	BCOR	OMIM:300166
HP:0000193	Bifid uvula	1718	DHCR24	ORPHA:35107
HP:0000193	Bifid uvula	51305	KCNK9	OMIM:612292
HP:0000193	Bifid uvula	8239	USP9X	OMIM:300968
HP:0000193	Bifid uvula	6472	SHMT2	OMIM:619121
HP:0000193	Bifid uvula	9928	KIF14	OMIM:616258
HP:0000193	Bifid uvula	1654	DDX3X	OMIM:300958
HP:0000193	Bifid uvula	5500	PPP1CB	OMIM:617506
HP:0000193	Bifid uvula	2261	FGFR3	ORPHA:2363
HP:0000193	Bifid uvula	2255	FGF10	ORPHA:2363
HP:0000193	Bifid uvula	3373	HYAL1	OMIM:601492
HP:0000193	Bifid uvula	50945	TBX22	OMIM:303400
HP:0000193	Bifid uvula	23314	SATB2	ORPHA:576283
HP:0000193	Bifid uvula	81031	SLC2A10	OMIM:208050
HP:0000193	Bifid uvula	23483	TGDS	OMIM:616145
HP:0000193	Bifid uvula	9652	SKIC3	OMIM:222470
HP:0000193	Bifid uvula	8243	SMC1A	ORPHA:220386
HP:0000193	Bifid uvula	100151683	RNU4ATAC	ORPHA:2636
HP:0000193	Bifid uvula	6611	SMS	OMIM:309583
HP:0000193	Bifid uvula	5236	PGM1	OMIM:614921
HP:0000193	Bifid uvula	7048	TGFBR2	OMIM:610168
HP:0000193	Bifid uvula	7048	TGFBR2	ORPHA:60030
HP:0000193	Bifid uvula	2316	FLNA	ORPHA:1826
HP:0000193	Bifid uvula	23522	KAT6B	ORPHA:3047
HP:0000193	Bifid uvula	1302	COL11A2	ORPHA:1427
HP:0000193	Bifid uvula	79583	TMEM231	ORPHA:2752
HP:0000193	Bifid uvula	26123	TCTN3	ORPHA:2753
HP:0000193	Bifid uvula	10195	ALG3	OMIM:601110
HP:0000193	Bifid uvula	9742	IFT140	OMIM:266920
HP:0000193	Bifid uvula	9775	EIF4A3	OMIM:268305
HP:0000193	Bifid uvula	7043	TGFB3	OMIM:615582
HP:0000193	Bifid uvula	91252	SLC39A13	OMIM:612350
HP:0000193	Bifid uvula	2702	GJA5	OMIM:612474
HP:0000193	Bifid uvula	2703	GJA8	OMIM:612474
HP:0000193	Bifid uvula	7046	TGFBR1	ORPHA:60030
HP:0000193	Bifid uvula	7046	TGFBR1	OMIM:609192
HP:0000193	Bifid uvula	219844	HYLS1	ORPHA:2189
HP:0000193	Bifid uvula	58508	KMT2C	OMIM:617768
HP:0000193	Bifid uvula	7042	TGFB2	OMIM:614816
HP:0000193	Bifid uvula	4089	SMAD4	ORPHA:2588
HP:0000174	Abnormal palate morphology	710	SERPING1	ORPHA:100050
HP:0000174	Abnormal palate morphology	123606	NIPA1	ORPHA:261183
HP:0000174	Abnormal palate morphology	7283	TUBG1	ORPHA:261183
HP:0000174	Abnormal palate morphology	81614	NIPA2	ORPHA:261183
HP:0000174	Abnormal palate morphology	6925	TCF4	ORPHA:2896
HP:0000174	Abnormal palate morphology	2131	EXT1	ORPHA:502
HP:0000174	Abnormal palate morphology	114548	NLRP3	ORPHA:575
HP:0000174	Abnormal palate morphology	6023	RMRP	ORPHA:175
HP:0000174	Abnormal palate morphology	9326	ZNHIT3	ORPHA:2836
HP:0000174	Abnormal palate morphology	547	KIF1A	ORPHA:2836
HP:0000174	Abnormal palate morphology	23028	KDM1A	ORPHA:477993
HP:0000174	Abnormal palate morphology	84168	ANTXR1	ORPHA:2067
HP:0000174	Abnormal palate morphology	2313	FLI1	ORPHA:2308
HP:0000174	Abnormal palate morphology	85465	SELENOI	ORPHA:506353
HP:0000174	Abnormal palate morphology	85465	SELENOI	OMIM:618768
HP:0000174	Abnormal palate morphology	10617	STAMBP	OMIM:614261
HP:0000174	Abnormal palate morphology	91452	ACBD5	OMIM:618863
HP:0000174	Abnormal palate morphology	2304	FOXE1	OMIM:241850
HP:0000174	Abnormal palate morphology	2304	FOXE1	ORPHA:1226
HP:0000174	Abnormal palate morphology	54101	RIPK4	ORPHA:1401
HP:0000174	Abnormal palate morphology	54101	RIPK4	OMIM:263650
HP:0000174	Abnormal palate morphology	54101	RIPK4	ORPHA:1234
HP:0000174	Abnormal palate morphology	55209	SETD5	ORPHA:404440
HP:0000174	Abnormal palate morphology	267010	RNU12	OMIM:603116
HP:0000174	Abnormal palate morphology	2073	ERCC5	OMIM:616570
HP:0000174	Abnormal palate morphology	1723	DHODH	OMIM:263750
HP:0000174	Abnormal palate morphology	1723	DHODH	ORPHA:246
HP:0000174	Abnormal palate morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000174	Abnormal palate morphology	23322	RPGRIP1L	ORPHA:564
HP:0000174	Abnormal palate morphology	23322	RPGRIP1L	OMIM:611561
HP:0000174	Abnormal palate morphology	4867	NPHP1	ORPHA:220497
HP:0000174	Abnormal palate morphology	65062	TMEM237	ORPHA:220497
HP:0000174	Abnormal palate morphology	65062	TMEM237	ORPHA:564
HP:0000174	Abnormal palate morphology	65062	TMEM237	OMIM:614424
HP:0000174	Abnormal palate morphology	72	ACTG2	ORPHA:2604
HP:0000174	Abnormal palate morphology	54806	AHI1	ORPHA:220493
HP:0000174	Abnormal palate morphology	56623	INPP5E	ORPHA:220493
HP:0000174	Abnormal palate morphology	153241	CEP120	ORPHA:220493
HP:0000174	Abnormal palate morphology	153241	CEP120	OMIM:616300
HP:0000174	Abnormal palate morphology	54903	MKS1	ORPHA:220493
HP:0000174	Abnormal palate morphology	54903	MKS1	OMIM:249000
HP:0000174	Abnormal palate morphology	54903	MKS1	ORPHA:564
HP:0000174	Abnormal palate morphology	95681	CEP41	ORPHA:220493
HP:0000174	Abnormal palate morphology	6595	SMARCA2	ORPHA:2728
HP:0000174	Abnormal palate morphology	55636	CHD7	ORPHA:138
HP:0000174	Abnormal palate morphology	55636	CHD7	ORPHA:478
HP:0000174	Abnormal palate morphology	55636	CHD7	ORPHA:432
HP:0000174	Abnormal palate morphology	55636	CHD7	OMIM:214800
HP:0000174	Abnormal palate morphology	55636	CHD7	OMIM:612370
HP:0000174	Abnormal palate morphology	9723	SEMA3E	ORPHA:138
HP:0000174	Abnormal palate morphology	51684	SUFU	ORPHA:280200
HP:0000174	Abnormal palate morphology	57589	RIC1	OMIM:618761
HP:0000174	Abnormal palate morphology	10584	COLEC10	OMIM:248340
HP:0000174	Abnormal palate morphology	25885	POLR1A	OMIM:616462
HP:0000174	Abnormal palate morphology	7994	KAT6A	ORPHA:457193
HP:0000174	Abnormal palate morphology	7994	KAT6A	OMIM:616268
HP:0000174	Abnormal palate morphology	5191	PEX7	OMIM:215100
HP:0000174	Abnormal palate morphology	1302	COL11A2	OMIM:184840
HP:0000174	Abnormal palate morphology	1302	COL11A2	ORPHA:166100
HP:0000174	Abnormal palate morphology	1302	COL11A2	ORPHA:2021
HP:0000174	Abnormal palate morphology	1302	COL11A2	OMIM:215150
HP:0000174	Abnormal palate morphology	1302	COL11A2	ORPHA:1427
HP:0000174	Abnormal palate morphology	10815	CPLX1	ORPHA:280
HP:0000174	Abnormal palate morphology	10815	CPLX1	OMIM:194190
HP:0000174	Abnormal palate morphology	10815	CPLX1	OMIM:617976
HP:0000174	Abnormal palate morphology	54872	PIGG	ORPHA:280
HP:0000174	Abnormal palate morphology	7469	NELFA	ORPHA:280
HP:0000174	Abnormal palate morphology	7468	NSD2	ORPHA:280
HP:0000174	Abnormal palate morphology	7468	NSD2	OMIM:194190
HP:0000174	Abnormal palate morphology	23327	NEDD4L	OMIM:617201
HP:0000174	Abnormal palate morphology	80776	B9D2	OMIM:614175
HP:0000174	Abnormal palate morphology	80776	B9D2	ORPHA:564
HP:0000174	Abnormal palate morphology	56992	KIF15	OMIM:619981
HP:0000174	Abnormal palate morphology	26057	ANKRD17	OMIM:619504
HP:0000174	Abnormal palate morphology	10716	TBR1	ORPHA:1617
HP:0000174	Abnormal palate morphology	2773	GNAI3	OMIM:602483
HP:0000174	Abnormal palate morphology	2773	GNAI3	ORPHA:137888
HP:0000174	Abnormal palate morphology	57167	SALL4	ORPHA:233
HP:0000174	Abnormal palate morphology	9935	MAFB	ORPHA:233
HP:0000174	Abnormal palate morphology	1123	CHN1	ORPHA:233
HP:0000174	Abnormal palate morphology	79659	DYNC2H1	OMIM:613091
HP:0000174	Abnormal palate morphology	11285	B4GALT7	OMIM:130070
HP:0000174	Abnormal palate morphology	1349	COX7B	OMIM:309801
HP:0000174	Abnormal palate morphology	3052	HCCS	OMIM:309801
HP:0000174	Abnormal palate morphology	54539	NDUFB11	OMIM:309801
HP:0000174	Abnormal palate morphology	126695	KDF1	OMIM:617337
HP:0000174	Abnormal palate morphology	1909	EDNRA	OMIM:616367
HP:0000174	Abnormal palate morphology	8516	ITGA8	ORPHA:1848
HP:0000174	Abnormal palate morphology	26281	FGF20	ORPHA:1848
HP:0000174	Abnormal palate morphology	2674	GFRA1	ORPHA:1848
HP:0000174	Abnormal palate morphology	7484	WNT9B	ORPHA:1848
HP:0000174	Abnormal palate morphology	80000	GREB1L	ORPHA:1848
HP:0000174	Abnormal palate morphology	5925	RB1	OMIM:180200
HP:0000174	Abnormal palate morphology	147912	SIX5	ORPHA:107
HP:0000174	Abnormal palate morphology	54928	BPNT2	OMIM:614078
HP:0000174	Abnormal palate morphology	57688	ZSWIM6	OMIM:603671
HP:0000174	Abnormal palate morphology	1749	DLX5	OMIM:183600
HP:0000174	Abnormal palate morphology	11107	PRDM5	ORPHA:90354
HP:0000174	Abnormal palate morphology	84627	ZNF469	ORPHA:90354
HP:0000174	Abnormal palate morphology	7030	TFE3	OMIM:301066
HP:0000174	Abnormal palate morphology	2706	GJB2	ORPHA:494
HP:0000174	Abnormal palate morphology	9319	TRIP13	OMIM:617598
HP:0000174	Abnormal palate morphology	9319	TRIP13	ORPHA:1052
HP:0000174	Abnormal palate morphology	2303	FOXC2	ORPHA:33001
HP:0000174	Abnormal palate morphology	2303	FOXC2	OMIM:153400
HP:0000174	Abnormal palate morphology	54361	WNT4	OMIM:611812
HP:0000174	Abnormal palate morphology	54361	WNT4	ORPHA:247768
HP:0000174	Abnormal palate morphology	257	ALX3	ORPHA:391474
HP:0000174	Abnormal palate morphology	25970	SH2B1	ORPHA:261197
HP:0000174	Abnormal palate morphology	8295	TRRAP	OMIM:618454
HP:0000174	Abnormal palate morphology	26173	INTS1	OMIM:618571
HP:0000174	Abnormal palate morphology	9427	ECEL1	OMIM:615065
HP:0000174	Abnormal palate morphology	4212	MEIS2	ORPHA:261190
HP:0000174	Abnormal palate morphology	4212	MEIS2	OMIM:600987
HP:0000174	Abnormal palate morphology	10801	SEPTIN9	ORPHA:2901
HP:0000174	Abnormal palate morphology	10801	SEPTIN9	OMIM:162100
HP:0000174	Abnormal palate morphology	6792	CDKL5	ORPHA:1934
HP:0000174	Abnormal palate morphology	3736	KCNA1	ORPHA:1934
HP:0000174	Abnormal palate morphology	9091	PIGQ	ORPHA:1934
HP:0000174	Abnormal palate morphology	2775	GNAO1	ORPHA:1934
HP:0000174	Abnormal palate morphology	81603	TRIM8	ORPHA:1934
HP:0000174	Abnormal palate morphology	2902	GRIN1	ORPHA:1934
HP:0000174	Abnormal palate morphology	79751	SLC25A22	ORPHA:1934
HP:0000174	Abnormal palate morphology	150094	SIK1	ORPHA:1934
HP:0000174	Abnormal palate morphology	2917	GRM7	ORPHA:1934
HP:0000174	Abnormal palate morphology	11284	PNKP	ORPHA:1934
HP:0000174	Abnormal palate morphology	6326	SCN2A	ORPHA:1934
HP:0000174	Abnormal palate morphology	51227	PIGP	ORPHA:1934
HP:0000174	Abnormal palate morphology	6324	SCN1B	ORPHA:1934
HP:0000174	Abnormal palate morphology	4761	NEUROD2	ORPHA:1934
HP:0000174	Abnormal palate morphology	1801	DPH1	ORPHA:459061
HP:0000174	Abnormal palate morphology	10371	SEMA3A	ORPHA:478
HP:0000174	Abnormal palate morphology	81848	SPRY4	ORPHA:478
HP:0000174	Abnormal palate morphology	81848	SPRY4	ORPHA:432
HP:0000174	Abnormal palate morphology	23767	FLRT3	ORPHA:478
HP:0000174	Abnormal palate morphology	128674	PROKR2	ORPHA:478
HP:0000174	Abnormal palate morphology	128674	PROKR2	ORPHA:432
HP:0000174	Abnormal palate morphology	128674	PROKR2	ORPHA:3157
HP:0000174	Abnormal palate morphology	128674	PROKR2	OMIM:244200
HP:0000174	Abnormal palate morphology	79625	NDNF	ORPHA:478
HP:0000174	Abnormal palate morphology	389549	FEZF1	ORPHA:478
HP:0000174	Abnormal palate morphology	1630	DCC	ORPHA:478
HP:0000174	Abnormal palate morphology	54756	IL17RD	ORPHA:478
HP:0000174	Abnormal palate morphology	6663	SOX10	ORPHA:478
HP:0000174	Abnormal palate morphology	285025	CCDC141	ORPHA:478
HP:0000174	Abnormal palate morphology	60675	PROK2	ORPHA:478
HP:0000174	Abnormal palate morphology	60675	PROK2	ORPHA:432
HP:0000174	Abnormal palate morphology	1848	DUSP6	ORPHA:478
HP:0000174	Abnormal palate morphology	1848	DUSP6	ORPHA:432
HP:0000174	Abnormal palate morphology	6870	TACR3	ORPHA:478
HP:0000174	Abnormal palate morphology	6870	TACR3	ORPHA:432
HP:0000174	Abnormal palate morphology	9394	HS6ST1	ORPHA:478
HP:0000174	Abnormal palate morphology	9394	HS6ST1	ORPHA:432
HP:0000174	Abnormal palate morphology	9394	HS6ST1	OMIM:614880
HP:0000174	Abnormal palate morphology	8820	HESX1	ORPHA:478
HP:0000174	Abnormal palate morphology	8820	HESX1	ORPHA:3157
HP:0000174	Abnormal palate morphology	8822	FGF17	ORPHA:478
HP:0000174	Abnormal palate morphology	8822	FGF17	ORPHA:432
HP:0000174	Abnormal palate morphology	2737	GLI3	ORPHA:672
HP:0000174	Abnormal palate morphology	2737	GLI3	OMIM:146510
HP:0000174	Abnormal palate morphology	2737	GLI3	ORPHA:93322
HP:0000174	Abnormal palate morphology	26012	NSMF	ORPHA:432
HP:0000174	Abnormal palate morphology	26012	NSMF	OMIM:614838
HP:0000174	Abnormal palate morphology	2796	GNRH1	ORPHA:432
HP:0000174	Abnormal palate morphology	2798	GNRHR	ORPHA:432
HP:0000174	Abnormal palate morphology	84634	KISS1R	ORPHA:432
HP:0000174	Abnormal palate morphology	6866	TAC3	ORPHA:432
HP:0000174	Abnormal palate morphology	3814	KISS1	ORPHA:432
HP:0000174	Abnormal palate morphology	23592	LEMD3	ORPHA:166119
HP:0000174	Abnormal palate morphology	5396	PRRX1	OMIM:202650
HP:0000174	Abnormal palate morphology	23384	SPECC1L	OMIM:600251
HP:0000174	Abnormal palate morphology	23114	NFASC	OMIM:618356
HP:0000174	Abnormal palate morphology	26128	KIFBP	ORPHA:66629
HP:0000174	Abnormal palate morphology	79068	FTO	OMIM:612938
HP:0000174	Abnormal palate morphology	50619	DEF6	OMIM:619573
HP:0000174	Abnormal palate morphology	340665	CYP26C1	ORPHA:398189
HP:0000174	Abnormal palate morphology	50945	TBX22	OMIM:302905
HP:0000174	Abnormal palate morphology	50945	TBX22	ORPHA:921
HP:0000174	Abnormal palate morphology	50945	TBX22	OMIM:303400
HP:0000174	Abnormal palate morphology	1312	COMT	ORPHA:567
HP:0000174	Abnormal palate morphology	221037	JMJD1C	ORPHA:567
HP:0000174	Abnormal palate morphology	2812	GP1BB	ORPHA:567
HP:0000174	Abnormal palate morphology	6239	RREB1	ORPHA:567
HP:0000174	Abnormal palate morphology	7290	HIRA	ORPHA:567
HP:0000174	Abnormal palate morphology	9632	SEC24C	ORPHA:567
HP:0000174	Abnormal palate morphology	7353	UFD1	ORPHA:567
HP:0000174	Abnormal palate morphology	421	ARVCF	ORPHA:567
HP:0000174	Abnormal palate morphology	84314	TMEM107	ORPHA:564
HP:0000174	Abnormal palate morphology	79867	TCTN2	ORPHA:564
HP:0000174	Abnormal palate morphology	79867	TCTN2	OMIM:613885
HP:0000174	Abnormal palate morphology	79600	TCTN1	ORPHA:564
HP:0000174	Abnormal palate morphology	57096	RPGRIP1	ORPHA:564
HP:0000174	Abnormal palate morphology	79848	CSPP1	ORPHA:564
HP:0000174	Abnormal palate morphology	80184	CEP290	ORPHA:564
HP:0000174	Abnormal palate morphology	80184	CEP290	OMIM:611134
HP:0000174	Abnormal palate morphology	80184	CEP290	OMIM:610188
HP:0000174	Abnormal palate morphology	57545	CC2D2A	ORPHA:564
HP:0000174	Abnormal palate morphology	57545	CC2D2A	OMIM:612284
HP:0000174	Abnormal palate morphology	79583	TMEM231	ORPHA:564
HP:0000174	Abnormal palate morphology	91147	TMEM67	ORPHA:564
HP:0000174	Abnormal palate morphology	91147	TMEM67	OMIM:607361
HP:0000174	Abnormal palate morphology	79770	TXNDC15	ORPHA:564
HP:0000174	Abnormal palate morphology	27077	B9D1	ORPHA:564
HP:0000174	Abnormal palate morphology	1822	ATN1	OMIM:618494
HP:0000174	Abnormal palate morphology	8883	NAE1	OMIM:620210
HP:0000174	Abnormal palate morphology	9343	EFTUD2	OMIM:610536
HP:0000174	Abnormal palate morphology	9343	EFTUD2	ORPHA:79113
HP:0000174	Abnormal palate morphology	7846	TUBA1A	ORPHA:994
HP:0000174	Abnormal palate morphology	340419	RSPO2	OMIM:618021
HP:0000174	Abnormal palate morphology	145173	B3GLCT	OMIM:261540
HP:0000174	Abnormal palate morphology	145173	B3GLCT	ORPHA:709
HP:0000174	Abnormal palate morphology	5530	PPP3CA	OMIM:618265
HP:0000174	Abnormal palate morphology	26005	C2CD3	ORPHA:434179
HP:0000174	Abnormal palate morphology	26005	C2CD3	OMIM:615948
HP:0000174	Abnormal palate morphology	57514	ARHGAP31	OMIM:100300
HP:0000174	Abnormal palate morphology	2254	FGF9	OMIM:612961
HP:0000174	Abnormal palate morphology	6608	SMO	OMIM:241800
HP:0000174	Abnormal palate morphology	10413	YAP1	OMIM:120433
HP:0000174	Abnormal palate morphology	10653	SPINT2	OMIM:270420
HP:0000174	Abnormal palate morphology	51360	MBTPS2	OMIM:308205
HP:0000174	Abnormal palate morphology	51360	MBTPS2	ORPHA:85284
HP:0000174	Abnormal palate morphology	2571	GAD1	OMIM:619124
HP:0000174	Abnormal palate morphology	55640	FLVCR2	OMIM:225790
HP:0000174	Abnormal palate morphology	90416	CCDC32	OMIM:619123
HP:0000174	Abnormal palate morphology	1654	DDX3X	OMIM:300958
HP:0000174	Abnormal palate morphology	23169	SLC35D1	OMIM:269250
HP:0000174	Abnormal palate morphology	23169	SLC35D1	ORPHA:3144
HP:0000174	Abnormal palate morphology	4222	MEOX1	OMIM:214300
HP:0000174	Abnormal palate morphology	4222	MEOX1	ORPHA:2345
HP:0000174	Abnormal palate morphology	5077	PAX3	ORPHA:894
HP:0000174	Abnormal palate morphology	1984	EIF5A	OMIM:619376
HP:0000174	Abnormal palate morphology	168667	BMPER	ORPHA:66637
HP:0000174	Abnormal palate morphology	168667	BMPER	OMIM:608022
HP:0000174	Abnormal palate morphology	5236	PGM1	OMIM:614921
HP:0000174	Abnormal palate morphology	4683	NBN	ORPHA:647
HP:0000174	Abnormal palate morphology	4683	NBN	OMIM:251260
HP:0000174	Abnormal palate morphology	124454	EARS2	OMIM:614924
HP:0000174	Abnormal palate morphology	64131	XYLT1	ORPHA:370930
HP:0000174	Abnormal palate morphology	64131	XYLT1	OMIM:615777
HP:0000174	Abnormal palate morphology	3239	HOXD13	ORPHA:887
HP:0000174	Abnormal palate morphology	9897	WASHC5	ORPHA:7
HP:0000174	Abnormal palate morphology	9897	WASHC5	OMIM:220210
HP:0000174	Abnormal palate morphology	6913	TBX15	OMIM:260660
HP:0000174	Abnormal palate morphology	6657	SOX2	ORPHA:3157
HP:0000174	Abnormal palate morphology	6658	SOX3	ORPHA:3157
HP:0000174	Abnormal palate morphology	9915	ARNT2	ORPHA:3157
HP:0000174	Abnormal palate morphology	5015	OTX2	ORPHA:3157
HP:0000174	Abnormal palate morphology	5015	OTX2	OMIM:610125
HP:0000174	Abnormal palate morphology	2294	FOXF1	OMIM:265380
HP:0000174	Abnormal palate morphology	6399	TRAPPC2	ORPHA:93284
HP:0000174	Abnormal palate morphology	1832	DSP	ORPHA:158687
HP:0000174	Abnormal palate morphology	3728	JUP	ORPHA:158687
HP:0000174	Abnormal palate morphology	347734	SLC35B2	OMIM:620269
HP:0000174	Abnormal palate morphology	3636	INPPL1	ORPHA:3144
HP:0000174	Abnormal palate morphology	10992	SF3B2	OMIM:164210
HP:0000174	Abnormal palate morphology	80232	WDR26	ORPHA:513456
HP:0000174	Abnormal palate morphology	80232	WDR26	OMIM:617616
HP:0000174	Abnormal palate morphology	613	BCR	ORPHA:261330
HP:0000174	Abnormal palate morphology	1399	CRKL	ORPHA:261330
HP:0000174	Abnormal palate morphology	2314	FLII	ORPHA:819
HP:0000174	Abnormal palate morphology	23096	IQSEC2	ORPHA:819
HP:0000174	Abnormal palate morphology	1717	DHCR7	ORPHA:818
HP:0000174	Abnormal palate morphology	1717	DHCR7	OMIM:270400
HP:0000174	Abnormal palate morphology	80204	FBXO11	OMIM:618089
HP:0000174	Abnormal palate morphology	6597	SMARCA4	OMIM:614609
HP:0000174	Abnormal palate morphology	222663	SCUBE3	OMIM:619184
HP:0000174	Abnormal palate morphology	9184	BUB3	ORPHA:1052
HP:0000174	Abnormal palate morphology	9702	CEP57	ORPHA:1052
HP:0000174	Abnormal palate morphology	701	BUB1B	ORPHA:1052
HP:0000174	Abnormal palate morphology	701	BUB1B	OMIM:257300
HP:0000174	Abnormal palate morphology	60	ACTB	OMIM:607371
HP:0000174	Abnormal palate morphology	1906	EDN1	ORPHA:137888
HP:0000174	Abnormal palate morphology	5332	PLCB4	ORPHA:137888
HP:0000174	Abnormal palate morphology	5332	PLCB4	OMIM:614669
HP:0000174	Abnormal palate morphology	53834	FGFRL1	OMIM:194190
HP:0000174	Abnormal palate morphology	26227	PHGDH	OMIM:256520
HP:0000174	Abnormal palate morphology	2615	LRRC32	OMIM:619074
HP:0000174	Abnormal palate morphology	392255	GDF6	OMIM:118100
HP:0000174	Abnormal palate morphology	392255	GDF6	ORPHA:2345
HP:0000174	Abnormal palate morphology	4519	MT-CYB	ORPHA:137675
HP:0000174	Abnormal palate morphology	10907	TXNL4A	OMIM:608572
HP:0000174	Abnormal palate morphology	4094	MAF	ORPHA:1272
HP:0000174	Abnormal palate morphology	1028	CDKN1C	ORPHA:397590
HP:0000174	Abnormal palate morphology	5324	PLAG1	ORPHA:397590
HP:0000174	Abnormal palate morphology	8091	HMGA2	ORPHA:397590
HP:0000174	Abnormal palate morphology	2535	FZD2	OMIM:164745
HP:0000174	Abnormal palate morphology	60529	ALX4	ORPHA:60015
HP:0000174	Abnormal palate morphology	2625	GATA3	ORPHA:2237
HP:0000174	Abnormal palate morphology	11023	VAX1	OMIM:614402
HP:0000174	Abnormal palate morphology	9939	RBM8A	ORPHA:3320
HP:0000174	Abnormal palate morphology	9939	RBM8A	OMIM:274000
HP:0000174	Abnormal palate morphology	22856	CHSY1	OMIM:605282
HP:0000174	Abnormal palate morphology	9573	GDF3	ORPHA:2345
HP:0000174	Abnormal palate morphology	27152	INTU	OMIM:617925
HP:0000174	Abnormal palate morphology	1297	COL9A1	ORPHA:250984
HP:0000174	Abnormal palate morphology	1298	COL9A2	ORPHA:250984
HP:0000174	Abnormal palate morphology	1299	COL9A3	ORPHA:250984
HP:0000174	Abnormal palate morphology	84695	LOXL3	ORPHA:250984
HP:0000174	Abnormal palate morphology	2245	FGD1	ORPHA:915
HP:0000174	Abnormal palate morphology	2245	FGD1	OMIM:305400
HP:0000174	Abnormal palate morphology	10664	CTCF	OMIM:615502
HP:0000174	Abnormal palate morphology	10664	CTCF	ORPHA:363611
HP:0000174	Abnormal palate morphology	9894	TELO2	OMIM:616954
HP:0000174	Abnormal palate morphology	9894	TELO2	ORPHA:488642
HP:0000174	Abnormal palate morphology	196528	ARID2	OMIM:617808
HP:0000174	Abnormal palate morphology	3720	JARID2	OMIM:620098
HP:0000174	Abnormal palate morphology	5648	MASP1	OMIM:257920
HP:0000174	Abnormal palate morphology	8092	ALX1	OMIM:613456
HP:0000174	Abnormal palate morphology	8092	ALX1	ORPHA:306542
HP:0000174	Abnormal palate morphology	4010	LMX1B	OMIM:161200
HP:0000174	Abnormal palate morphology	55784	MCTP2	ORPHA:1596
HP:0000174	Abnormal palate morphology	5915	RARB	OMIM:615524
HP:0000174	Abnormal palate morphology	10982	MAPRE2	OMIM:616734
HP:0000174	Abnormal palate morphology	10982	MAPRE2	ORPHA:2505
HP:0000174	Abnormal palate morphology	2122	MECOM	OMIM:616738
HP:0000174	Abnormal palate morphology	134701	RIPPLY2	ORPHA:2311
HP:0000174	Abnormal palate morphology	10683	DLL3	ORPHA:2311
HP:0000174	Abnormal palate morphology	3955	LFNG	ORPHA:2311
HP:0000174	Abnormal palate morphology	84667	HES7	ORPHA:2311
HP:0000174	Abnormal palate morphology	145873	MESP2	ORPHA:2311
HP:0000174	Abnormal palate morphology	1063	CENPF	OMIM:243605
HP:0000174	Abnormal palate morphology	23395	LARS2	OMIM:615300
HP:0000174	Abnormal palate morphology	367	AR	ORPHA:95706
HP:0000174	Abnormal palate morphology	29980	DONSON	OMIM:251230
HP:0000174	Abnormal palate morphology	64840	PORCN	OMIM:305600
HP:0000174	Abnormal palate morphology	3199	HOXA2	OMIM:612290
HP:0000174	Abnormal palate morphology	1857	DVL3	OMIM:616894
HP:0000174	Abnormal palate morphology	6911	TBX6	ORPHA:1797
HP:0000174	Abnormal palate morphology	202018	TAPT1	OMIM:616897
HP:0000174	Abnormal palate morphology	23247	KATNIP	OMIM:616784
HP:0000174	Abnormal palate morphology	9786	KIAA0586	OMIM:616546
HP:0000174	Abnormal palate morphology	59341	TRPV4	ORPHA:2635
HP:0000174	Abnormal palate morphology	7473	WNT3	OMIM:273395
HP:0000174	Abnormal palate morphology	23133	PHF8	OMIM:300263
HP:0000174	Abnormal palate morphology	9130	FAM50A	OMIM:300261
HP:0000174	Abnormal palate morphology	26229	B3GAT3	OMIM:245600
HP:0000174	Abnormal palate morphology	1968	EIF2S3	OMIM:300148
HP:0000174	Abnormal palate morphology	22827	PUF60	OMIM:615583
HP:0000174	Abnormal palate morphology	9949	AMMECR1	OMIM:300990
HP:0000174	Abnormal palate morphology	9653	HS2ST1	OMIM:619194
HP:0000174	Abnormal palate morphology	9791	PTDSS1	ORPHA:2658
HP:0000174	Abnormal palate morphology	8452	CUL3	OMIM:619239
HP:0000174	Abnormal palate morphology	5575	PRKAR1B	OMIM:619680
HP:0000174	Abnormal palate morphology	1718	DHCR24	ORPHA:35107
HP:0000174	Abnormal palate morphology	23498	HAAO	OMIM:617660
HP:0000174	Abnormal palate morphology	10220	GDF11	OMIM:619122
HP:0000174	Abnormal palate morphology	84892	POMGNT2	ORPHA:899
HP:0000174	Abnormal palate morphology	148789	B3GALNT2	ORPHA:899
HP:0000174	Abnormal palate morphology	79147	FKRP	ORPHA:899
HP:0000174	Abnormal palate morphology	29954	POMT2	ORPHA:899
HP:0000174	Abnormal palate morphology	9215	LARGE1	ORPHA:899
HP:0000174	Abnormal palate morphology	1282	COL4A1	ORPHA:899
HP:0000174	Abnormal palate morphology	729920	CRPPA	ORPHA:899
HP:0000174	Abnormal palate morphology	10329	RXYLT1	ORPHA:899
HP:0000174	Abnormal palate morphology	1605	DAG1	ORPHA:899
HP:0000174	Abnormal palate morphology	11041	B4GAT1	ORPHA:899
HP:0000174	Abnormal palate morphology	10585	POMT1	ORPHA:899
HP:0000174	Abnormal palate morphology	84197	POMK	ORPHA:899
HP:0000174	Abnormal palate morphology	2218	FKTN	ORPHA:899
HP:0000174	Abnormal palate morphology	55624	POMGNT1	ORPHA:899
HP:0000174	Abnormal palate morphology	3373	HYAL1	OMIM:601492
HP:0000174	Abnormal palate morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000174	Abnormal palate morphology	93986	FOXP2	ORPHA:209908
HP:0000174	Abnormal palate morphology	23522	KAT6B	ORPHA:3047
HP:0000174	Abnormal palate morphology	81620	CDT1	ORPHA:2554
HP:0000174	Abnormal palate morphology	5000	ORC4	ORPHA:2554
HP:0000174	Abnormal palate morphology	23594	ORC6	ORPHA:2554
HP:0000174	Abnormal palate morphology	990	CDC6	ORPHA:2554
HP:0000174	Abnormal palate morphology	990	CDC6	OMIM:613805
HP:0000174	Abnormal palate morphology	51053	GMNN	ORPHA:2554
HP:0000174	Abnormal palate morphology	10524	KAT5	OMIM:619103
HP:0000174	Abnormal palate morphology	833	CARS1	OMIM:618891
HP:0000174	Abnormal palate morphology	51729	WBP11	OMIM:619227
HP:0000174	Abnormal palate morphology	219844	HYLS1	ORPHA:2189
HP:0000174	Abnormal palate morphology	4089	SMAD4	ORPHA:2588
HP:0000174	Abnormal palate morphology	699	BUB1	OMIM:620183
HP:0000174	Abnormal palate morphology	4488	MSX2	OMIM:604757
HP:0000174	Abnormal palate morphology	8367	H4C5	OMIM:619950
HP:0000174	Abnormal palate morphology	6628	SNRPB	OMIM:117650
HP:0000174	Abnormal palate morphology	1859	DYRK1A	ORPHA:268261
HP:0000174	Abnormal palate morphology	6949	TCOF1	OMIM:154500
HP:0000174	Abnormal palate morphology	64359	NXN	OMIM:618529
HP:0000174	Abnormal palate morphology	1280	COL2A1	ORPHA:93316
HP:0000174	Abnormal palate morphology	6135	RPL11	ORPHA:124
HP:0000174	Abnormal palate morphology	6138	RPL15	ORPHA:124
HP:0000174	Abnormal palate morphology	6229	RPS24	ORPHA:124
HP:0000174	Abnormal palate morphology	6125	RPL5	ORPHA:124
HP:0000174	Abnormal palate morphology	6204	RPS10	ORPHA:124
HP:0000174	Abnormal palate morphology	6224	RPS20	ORPHA:124
HP:0000174	Abnormal palate morphology	6165	RPL35A	ORPHA:124
HP:0000174	Abnormal palate morphology	2623	GATA1	ORPHA:124
HP:0000174	Abnormal palate morphology	6223	RPS19	ORPHA:124
HP:0000174	Abnormal palate morphology	6232	RPS27	ORPHA:124
HP:0000174	Abnormal palate morphology	6231	RPS26	ORPHA:124
HP:0000174	Abnormal palate morphology	11224	RPL35	ORPHA:124
HP:0000174	Abnormal palate morphology	6160	RPL31	ORPHA:124
HP:0000174	Abnormal palate morphology	6218	RPS17	ORPHA:124
HP:0000174	Abnormal palate morphology	6201	RPS7	ORPHA:124
HP:0000174	Abnormal palate morphology	6155	RPL27	ORPHA:124
HP:0000174	Abnormal palate morphology	6154	RPL26	ORPHA:124
HP:0000174	Abnormal palate morphology	6210	RPS15A	ORPHA:124
HP:0000174	Abnormal palate morphology	90121	TSR2	ORPHA:124
HP:0000174	Abnormal palate morphology	6141	RPL18	ORPHA:124
HP:0000174	Abnormal palate morphology	6235	RPS29	ORPHA:124
HP:0000174	Abnormal palate morphology	6234	RPS28	ORPHA:124
HP:0000174	Abnormal palate morphology	51816	ADA2	ORPHA:124
HP:0000174	Abnormal palate morphology	83479	DDX59	ORPHA:2919
HP:0000174	Abnormal palate morphology	7043	TGFB3	OMIM:615582
HP:0000174	Abnormal palate morphology	8882	ZPR1	OMIM:619321
HP:0000174	Abnormal palate morphology	2783	GNB2	OMIM:619503
HP:0000174	Abnormal palate morphology	55033	FKBP14	OMIM:614557
HP:0000174	Abnormal palate morphology	6602	SMARCD1	OMIM:618779
HP:0000174	Abnormal palate morphology	60386	SLC25A19	ORPHA:99742
HP:0000174	Abnormal palate morphology	2263	FGFR2	ORPHA:794
HP:0000174	Abnormal palate morphology	2263	FGFR2	ORPHA:1555
HP:0000174	Abnormal palate morphology	2263	FGFR2	OMIM:123790
HP:0000174	Abnormal palate morphology	2263	FGFR2	ORPHA:87
HP:0000174	Abnormal palate morphology	2263	FGFR2	ORPHA:207
HP:0000174	Abnormal palate morphology	2263	FGFR2	OMIM:101400
HP:0000174	Abnormal palate morphology	2263	FGFR2	OMIM:101200
HP:0000174	Abnormal palate morphology	2261	FGFR3	ORPHA:794
HP:0000174	Abnormal palate morphology	6197	RPS6KA3	ORPHA:192
HP:0000174	Abnormal palate morphology	6197	RPS6KA3	OMIM:303600
HP:0000174	Abnormal palate morphology	6909	TBX2	OMIM:618223
HP:0000174	Abnormal palate morphology	56896	DPYSL5	OMIM:619435
HP:0000174	Abnormal palate morphology	2892	GRIA3	ORPHA:364028
HP:0000174	Abnormal palate morphology	3590	IL11RA	OMIM:614188
HP:0000174	Abnormal palate morphology	8506	CNTNAP1	OMIM:618186
HP:0000174	Abnormal palate morphology	9524	TECR	OMIM:614020
HP:0000174	Abnormal palate morphology	1387	CREBBP	OMIM:180849
HP:0000174	Abnormal palate morphology	1387	CREBBP	ORPHA:353281
HP:0000174	Abnormal palate morphology	1387	CREBBP	ORPHA:353277
HP:0000174	Abnormal palate morphology	2033	EP300	OMIM:180849
HP:0000174	Abnormal palate morphology	2033	EP300	ORPHA:353284
HP:0000174	Abnormal palate morphology	2033	EP300	OMIM:613684
HP:0000174	Abnormal palate morphology	22931	RAB18	OMIM:614222
HP:0000174	Abnormal palate morphology	8924	HERC2	OMIM:615516
HP:0000174	Abnormal palate morphology	79005	SCNM1	OMIM:620107
HP:0000174	Abnormal palate morphology	5728	PTEN	ORPHA:109
HP:0000174	Abnormal palate morphology	526	ATP6V1B2	ORPHA:79500
HP:0000174	Abnormal palate morphology	57465	TBC1D24	ORPHA:79500
HP:0000174	Abnormal palate morphology	2200	FBN1	OMIM:608328
HP:0000174	Abnormal palate morphology	2200	FBN1	OMIM:154700
HP:0000174	Abnormal palate morphology	91754	NEK9	OMIM:617022
HP:0000174	Abnormal palate morphology	8567	MADD	OMIM:619004
HP:0000174	Abnormal palate morphology	63916	ELMO2	ORPHA:3019
HP:0000174	Abnormal palate morphology	57038	RARS2	OMIM:611523
HP:0000174	Abnormal palate morphology	9968	MED12	OMIM:305450
HP:0000174	Abnormal palate morphology	4952	OCRL	ORPHA:534
HP:0000174	Abnormal palate morphology	55343	SLC35C1	ORPHA:99843
HP:0000174	Abnormal palate morphology	6660	SOX5	ORPHA:313892
HP:0000174	Abnormal palate morphology	1376	CPT2	OMIM:608836
HP:0000174	Abnormal palate morphology	6497	SKI	OMIM:182212
HP:0000174	Abnormal palate morphology	6452	SH3BP2	OMIM:118400
HP:0000174	Abnormal palate morphology	1513	CTSK	OMIM:265800
HP:0000174	Abnormal palate morphology	64324	NSD1	OMIM:117550
HP:0000174	Abnormal palate morphology	8260	NAA10	OMIM:300855
HP:0000174	Abnormal palate morphology	23184	MESD	OMIM:618644
HP:0000174	Abnormal palate morphology	91137	SLC25A46	OMIM:616505
HP:0000174	Abnormal palate morphology	284058	KANSL1	OMIM:610443
HP:0000174	Abnormal palate morphology	7476	WNT7A	OMIM:276820
HP:0000174	Abnormal palate morphology	2077	ERF	ORPHA:207
HP:0000174	Abnormal palate morphology	147372	CCBE1	OMIM:235510
HP:0000174	Abnormal palate morphology	7474	WNT5A	OMIM:180700
HP:0000174	Abnormal palate morphology	1855	DVL1	OMIM:180700
HP:0000174	Abnormal palate morphology	8604	SLC25A12	OMIM:612949
HP:0000174	Abnormal palate morphology	3265	HRAS	ORPHA:3071
HP:0000174	Abnormal palate morphology	2316	FLNA	ORPHA:555877
HP:0000174	Abnormal palate morphology	171023	ASXL1	OMIM:605039
HP:0000174	Abnormal palate morphology	860	RUNX2	OMIM:119600
HP:0000174	Abnormal palate morphology	58497	PRUNE1	OMIM:617481
HP:0000174	Abnormal palate morphology	10297	APC2	OMIM:617169
HP:0000174	Abnormal palate morphology	672	BRCA1	OMIM:617883
HP:0000174	Abnormal palate morphology	26040	SETBP1	OMIM:616078
HP:0000174	Abnormal palate morphology	1954	MEGF8	OMIM:614976
HP:0000174	Abnormal palate morphology	7227	TRPS1	OMIM:190350
HP:0000174	Abnormal palate morphology	2719	GPC3	OMIM:312870
HP:0000174	Abnormal palate morphology	2239	GPC4	OMIM:312870
HP:0000174	Abnormal palate morphology	165	AEBP1	ORPHA:536532
HP:0000174	Abnormal palate morphology	81794	ADAMTS10	OMIM:277600
HP:0000174	Abnormal palate morphology	23135	KDM6B	OMIM:618505
HP:0000174	Abnormal palate morphology	55627	SMPD4	OMIM:618622
HP:0000174	Abnormal palate morphology	80055	PGAP1	OMIM:615802
HP:0000174	Abnormal palate morphology	1108	CHD4	OMIM:617159
HP:0000174	Abnormal palate morphology	5422	POLA1	OMIM:301030
HP:0000174	Abnormal palate morphology	124512	METTL23	OMIM:615942
HP:0000174	Abnormal palate morphology	6905	TBCE	OMIM:241410
HP:0000174	Abnormal palate morphology	11198	SUPT16H	OMIM:619480
HP:0000174	Abnormal palate morphology	79796	ALG9	ORPHA:79328
HP:0000174	Abnormal palate morphology	284252	KCTD1	OMIM:181270
HP:0000174	Abnormal palate morphology	6472	SHMT2	OMIM:619121
HP:0000174	Abnormal palate morphology	9928	KIF14	OMIM:616258
HP:0000174	Abnormal palate morphology	2255	FGF10	ORPHA:2363
HP:0000174	Abnormal palate morphology	9652	SKIC3	OMIM:222470
HP:0000174	Abnormal palate morphology	58508	KMT2C	OMIM:617768
HP:0000174	Abnormal palate morphology	875	CBS	ORPHA:394
HP:0000174	Abnormal palate morphology	875	CBS	OMIM:236200
HP:0000174	Abnormal palate morphology	2673	GFPT1	OMIM:608931
HP:0000174	Abnormal palate morphology	2673	GFPT1	ORPHA:353327
HP:0000174	Abnormal palate morphology	1145	CHRNE	OMIM:608931
HP:0000174	Abnormal palate morphology	1145	CHRNE	ORPHA:98913
HP:0000174	Abnormal palate morphology	23019	CNOT1	OMIM:618500
HP:0000174	Abnormal palate morphology	23019	CNOT1	ORPHA:556955
HP:0000174	Abnormal palate morphology	8216	LZTR1	OMIM:616564
HP:0000174	Abnormal palate morphology	8216	LZTR1	OMIM:605275
HP:0000174	Abnormal palate morphology	8216	LZTR1	ORPHA:648
HP:0000174	Abnormal palate morphology	1144	CHRND	OMIM:616322
HP:0000174	Abnormal palate morphology	1144	CHRND	OMIM:616323
HP:0000174	Abnormal palate morphology	1144	CHRND	ORPHA:98913
HP:0000174	Abnormal palate morphology	5913	RAPSN	OMIM:616326
HP:0000174	Abnormal palate morphology	5913	RAPSN	OMIM:618388
HP:0000174	Abnormal palate morphology	5913	RAPSN	ORPHA:98913
HP:0000174	Abnormal palate morphology	6228	RPS23	OMIM:617412
HP:0000174	Abnormal palate morphology	5238	PGM3	ORPHA:443811
HP:0000174	Abnormal palate morphology	5238	PGM3	OMIM:615816
HP:0000174	Abnormal palate morphology	4897	NRCAM	OMIM:619833
HP:0000174	Abnormal palate morphology	1134	CHRNA1	OMIM:608930
HP:0000174	Abnormal palate morphology	1134	CHRNA1	OMIM:601462
HP:0000174	Abnormal palate morphology	1134	CHRNA1	ORPHA:98913
HP:0000174	Abnormal palate morphology	2317	FLNB	ORPHA:56305
HP:0000174	Abnormal palate morphology	3481	IGF2	ORPHA:231140
HP:0000174	Abnormal palate morphology	283120	H19	ORPHA:231140
HP:0000174	Abnormal palate morphology	80816	ASXL3	OMIM:615485
HP:0000174	Abnormal palate morphology	283489	CHAMP1	OMIM:616579
HP:0000174	Abnormal palate morphology	5184	PEPD	OMIM:170100
HP:0000174	Abnormal palate morphology	84466	MEGF10	OMIM:614399
HP:0000174	Abnormal palate morphology	4625	MYH7	OMIM:160500
HP:0000174	Abnormal palate morphology	4625	MYH7	ORPHA:324604
HP:0000174	Abnormal palate morphology	4625	MYH7	OMIM:255160
HP:0000174	Abnormal palate morphology	4625	MYH7	ORPHA:59135
HP:0000174	Abnormal palate morphology	3190	HNRNPK	OMIM:616580
HP:0000174	Abnormal palate morphology	55154	MSTO1	OMIM:617675
HP:0000174	Abnormal palate morphology	55154	MSTO1	ORPHA:502423
HP:0000174	Abnormal palate morphology	54453	RIN2	OMIM:613075
HP:0000174	Abnormal palate morphology	54453	RIN2	ORPHA:217335
HP:0000174	Abnormal palate morphology	113189	CHST14	ORPHA:2953
HP:0000174	Abnormal palate morphology	113189	CHST14	OMIM:601776
HP:0000174	Abnormal palate morphology	29940	DSE	ORPHA:2953
HP:0000174	Abnormal palate morphology	29940	DSE	OMIM:615539
HP:0000174	Abnormal palate morphology	79029	AFG2B	OMIM:619616
HP:0000174	Abnormal palate morphology	4604	MYBPC1	OMIM:618524
HP:0000174	Abnormal palate morphology	84100	ARL6	OMIM:209900
HP:0000174	Abnormal palate morphology	79140	CCDC28B	OMIM:209900
HP:0000174	Abnormal palate morphology	582	BBS1	OMIM:209900
HP:0000174	Abnormal palate morphology	4620	MYH2	OMIM:605637
HP:0000174	Abnormal palate morphology	9401	RECQL4	OMIM:218600
HP:0000174	Abnormal palate morphology	9401	RECQL4	OMIM:266280
HP:0000174	Abnormal palate morphology	9401	RECQL4	OMIM:268400
HP:0000174	Abnormal palate morphology	9401	RECQL4	ORPHA:1225
HP:0000174	Abnormal palate morphology	9401	RECQL4	ORPHA:221016
HP:0000174	Abnormal palate morphology	10484	SEC23A	OMIM:607812
HP:0000174	Abnormal palate morphology	10484	SEC23A	ORPHA:50814
HP:0000174	Abnormal palate morphology	23347	SMCHD1	OMIM:603457
HP:0000174	Abnormal palate morphology	4330	MN1	OMIM:618774
HP:0000174	Abnormal palate morphology	57231	SNX14	OMIM:616354
HP:0000174	Abnormal palate morphology	57231	SNX14	ORPHA:397709
HP:0000174	Abnormal palate morphology	8550	MAPKAPK5	OMIM:619869
HP:0000174	Abnormal palate morphology	5813	PURA	ORPHA:438216
HP:0000174	Abnormal palate morphology	5813	PURA	OMIM:616158
HP:0000174	Abnormal palate morphology	5813	PURA	ORPHA:314655
HP:0000174	Abnormal palate morphology	28514	DLL1	ORPHA:93926
HP:0000174	Abnormal palate morphology	28514	DLL1	ORPHA:93924
HP:0000174	Abnormal palate morphology	28514	DLL1	ORPHA:93925
HP:0000174	Abnormal palate morphology	28514	DLL1	ORPHA:220386
HP:0000174	Abnormal palate morphology	2253	FGF8	ORPHA:93926
HP:0000174	Abnormal palate morphology	2253	FGF8	ORPHA:93924
HP:0000174	Abnormal palate morphology	2253	FGF8	ORPHA:93925
HP:0000174	Abnormal palate morphology	2253	FGF8	ORPHA:220386
HP:0000174	Abnormal palate morphology	2253	FGF8	OMIM:612702
HP:0000174	Abnormal palate morphology	6496	SIX3	ORPHA:93926
HP:0000174	Abnormal palate morphology	6496	SIX3	ORPHA:93924
HP:0000174	Abnormal palate morphology	6496	SIX3	ORPHA:93925
HP:0000174	Abnormal palate morphology	6496	SIX3	ORPHA:220386
HP:0000174	Abnormal palate morphology	7050	TGIF1	ORPHA:93926
HP:0000174	Abnormal palate morphology	7050	TGIF1	ORPHA:93924
HP:0000174	Abnormal palate morphology	7050	TGIF1	ORPHA:93925
HP:0000174	Abnormal palate morphology	7050	TGIF1	ORPHA:220386
HP:0000174	Abnormal palate morphology	4838	NODAL	ORPHA:93926
HP:0000174	Abnormal palate morphology	4838	NODAL	ORPHA:93924
HP:0000174	Abnormal palate morphology	4838	NODAL	ORPHA:93925
HP:0000174	Abnormal palate morphology	4838	NODAL	ORPHA:220386
HP:0000174	Abnormal palate morphology	7546	ZIC2	ORPHA:93926
HP:0000174	Abnormal palate morphology	7546	ZIC2	ORPHA:93924
HP:0000174	Abnormal palate morphology	7546	ZIC2	ORPHA:93925
HP:0000174	Abnormal palate morphology	7546	ZIC2	OMIM:609637
HP:0000174	Abnormal palate morphology	7546	ZIC2	ORPHA:220386
HP:0000174	Abnormal palate morphology	6491	STIL	ORPHA:93926
HP:0000174	Abnormal palate morphology	6491	STIL	ORPHA:93924
HP:0000174	Abnormal palate morphology	6491	STIL	ORPHA:93925
HP:0000174	Abnormal palate morphology	6491	STIL	ORPHA:220386
HP:0000174	Abnormal palate morphology	2619	GAS1	ORPHA:93926
HP:0000174	Abnormal palate morphology	2619	GAS1	ORPHA:93924
HP:0000174	Abnormal palate morphology	2619	GAS1	ORPHA:93925
HP:0000174	Abnormal palate morphology	2619	GAS1	ORPHA:220386
HP:0000174	Abnormal palate morphology	84976	DISP1	ORPHA:93926
HP:0000174	Abnormal palate morphology	84976	DISP1	ORPHA:93924
HP:0000174	Abnormal palate morphology	84976	DISP1	ORPHA:93925
HP:0000174	Abnormal palate morphology	84976	DISP1	ORPHA:220386
HP:0000174	Abnormal palate morphology	2736	GLI2	ORPHA:93926
HP:0000174	Abnormal palate morphology	2736	GLI2	ORPHA:93924
HP:0000174	Abnormal palate morphology	2736	GLI2	ORPHA:93925
HP:0000174	Abnormal palate morphology	2736	GLI2	ORPHA:220386
HP:0000174	Abnormal palate morphology	8928	FOXH1	ORPHA:93926
HP:0000174	Abnormal palate morphology	8928	FOXH1	ORPHA:93924
HP:0000174	Abnormal palate morphology	8928	FOXH1	ORPHA:93925
HP:0000174	Abnormal palate morphology	8928	FOXH1	ORPHA:220386
HP:0000174	Abnormal palate morphology	5727	PTCH1	ORPHA:93926
HP:0000174	Abnormal palate morphology	5727	PTCH1	ORPHA:93924
HP:0000174	Abnormal palate morphology	5727	PTCH1	ORPHA:93925
HP:0000174	Abnormal palate morphology	5727	PTCH1	ORPHA:220386
HP:0000174	Abnormal palate morphology	50937	CDON	ORPHA:93926
HP:0000174	Abnormal palate morphology	50937	CDON	ORPHA:93924
HP:0000174	Abnormal palate morphology	50937	CDON	ORPHA:93925
HP:0000174	Abnormal palate morphology	50937	CDON	ORPHA:220386
HP:0000174	Abnormal palate morphology	2260	FGFR1	ORPHA:93924
HP:0000174	Abnormal palate morphology	2260	FGFR1	OMIM:166250
HP:0000174	Abnormal palate morphology	2260	FGFR1	ORPHA:93258
HP:0000174	Abnormal palate morphology	2260	FGFR1	ORPHA:220386
HP:0000174	Abnormal palate morphology	2260	FGFR1	OMIM:101600
HP:0000174	Abnormal palate morphology	23007	PLCH1	ORPHA:93925
HP:0000174	Abnormal palate morphology	4534	MTM1	ORPHA:596
HP:0000174	Abnormal palate morphology	4534	MTM1	OMIM:310400
HP:0000174	Abnormal palate morphology	4534	MTM1	ORPHA:456328
HP:0000174	Abnormal palate morphology	23126	POGZ	OMIM:616364
HP:0000174	Abnormal palate morphology	23126	POGZ	ORPHA:468678
HP:0000174	Abnormal palate morphology	23259	DDHD2	OMIM:615033
HP:0000174	Abnormal palate morphology	23259	DDHD2	ORPHA:320380
HP:0000174	Abnormal palate morphology	51633	OTUD6B	OMIM:617452
HP:0000174	Abnormal palate morphology	51633	OTUD6B	ORPHA:505237
HP:0000174	Abnormal palate morphology	3845	KRAS	OMIM:615278
HP:0000174	Abnormal palate morphology	3845	KRAS	ORPHA:648
HP:0000174	Abnormal palate morphology	3845	KRAS	ORPHA:1340
HP:0000174	Abnormal palate morphology	3845	KRAS	OMIM:609942
HP:0000174	Abnormal palate morphology	92609	TIMM50	OMIM:617698
HP:0000174	Abnormal palate morphology	51692	CPSF3	OMIM:619876
HP:0000174	Abnormal palate morphology	58	ACTA1	OMIM:161800
HP:0000174	Abnormal palate morphology	58	ACTA1	ORPHA:171436
HP:0000174	Abnormal palate morphology	58	ACTA1	ORPHA:2020
HP:0000174	Abnormal palate morphology	58	ACTA1	ORPHA:171439
HP:0000174	Abnormal palate morphology	8818	DPM2	OMIM:615042
HP:0000174	Abnormal palate morphology	8818	DPM2	ORPHA:329178
HP:0000174	Abnormal palate morphology	6329	SCN4A	OMIM:614198
HP:0000174	Abnormal palate morphology	6329	SCN4A	ORPHA:98913
HP:0000174	Abnormal palate morphology	56652	TWNK	OMIM:616138
HP:0000174	Abnormal palate morphology	163175	LGI4	OMIM:617468
HP:0000174	Abnormal palate morphology	200424	TET3	OMIM:618798
HP:0000174	Abnormal palate morphology	79971	WLS	OMIM:619648
HP:0000174	Abnormal palate morphology	63895	PIEZO2	ORPHA:376
HP:0000174	Abnormal palate morphology	63895	PIEZO2	OMIM:108145
HP:0000174	Abnormal palate morphology	63895	PIEZO2	OMIM:114300
HP:0000174	Abnormal palate morphology	63895	PIEZO2	OMIM:617146
HP:0000174	Abnormal palate morphology	63895	PIEZO2	OMIM:248700
HP:0000174	Abnormal palate morphology	23483	TGDS	OMIM:616145
HP:0000174	Abnormal palate morphology	8565	YARS1	OMIM:619418
HP:0000174	Abnormal palate morphology	25836	NIPBL	OMIM:122470
HP:0000174	Abnormal palate morphology	25836	NIPBL	ORPHA:199
HP:0000174	Abnormal palate morphology	4087	SMAD2	OMIM:619656
HP:0000174	Abnormal palate morphology	4087	SMAD2	OMIM:619657
HP:0000174	Abnormal palate morphology	3339	HSPG2	OMIM:255800
HP:0000174	Abnormal palate morphology	3339	HSPG2	ORPHA:800
HP:0000174	Abnormal palate morphology	10533	ATG7	OMIM:619422
HP:0000174	Abnormal palate morphology	1917	EEF1A2	OMIM:616393
HP:0000174	Abnormal palate morphology	9742	IFT140	OMIM:266920
HP:0000174	Abnormal palate morphology	5081	PAX7	OMIM:618578
HP:0000174	Abnormal palate morphology	389827	MYMK	OMIM:254940
HP:0000174	Abnormal palate morphology	389827	MYMK	ORPHA:1358
HP:0000174	Abnormal palate morphology	2201	FBN2	ORPHA:115
HP:0000174	Abnormal palate morphology	2201	FBN2	OMIM:121050
HP:0000174	Abnormal palate morphology	11160	ERLIN2	ORPHA:280384
HP:0000174	Abnormal palate morphology	11160	ERLIN2	OMIM:611225
HP:0000174	Abnormal palate morphology	11160	ERLIN2	ORPHA:209951
HP:0000174	Abnormal palate morphology	4088	SMAD3	ORPHA:284984
HP:0000174	Abnormal palate morphology	4088	SMAD3	OMIM:613795
HP:0000174	Abnormal palate morphology	4921	DDR2	OMIM:271665
HP:0000174	Abnormal palate morphology	4921	DDR2	OMIM:618175
HP:0000174	Abnormal palate morphology	57190	SELENON	ORPHA:324604
HP:0000174	Abnormal palate morphology	57190	SELENON	OMIM:602771
HP:0000174	Abnormal palate morphology	57190	SELENON	ORPHA:2020
HP:0000174	Abnormal palate morphology	7273	TTN	ORPHA:324604
HP:0000174	Abnormal palate morphology	7273	TTN	ORPHA:169186
HP:0000174	Abnormal palate morphology	9488	PIGB	OMIM:618580
HP:0000174	Abnormal palate morphology	8925	HERC1	OMIM:617011
HP:0000174	Abnormal palate morphology	8925	HERC1	ORPHA:457359
HP:0000174	Abnormal palate morphology	1499	CTNNB1	OMIM:615075
HP:0000174	Abnormal palate morphology	1291	COL6A1	OMIM:254090
HP:0000174	Abnormal palate morphology	1292	COL6A2	OMIM:254090
HP:0000174	Abnormal palate morphology	1293	COL6A3	OMIM:254090
HP:0000174	Abnormal palate morphology	8076	MFAP5	OMIM:616166
HP:0000174	Abnormal palate morphology	54517	PUS7	OMIM:618342
HP:0000174	Abnormal palate morphology	8573	CASK	OMIM:300749
HP:0000174	Abnormal palate morphology	79912	PYROXD1	OMIM:617258
HP:0000174	Abnormal palate morphology	10785	WDR4	OMIM:618347
HP:0000174	Abnormal palate morphology	57122	NUP107	OMIM:618348
HP:0000174	Abnormal palate morphology	57122	NUP107	OMIM:616730
HP:0000174	Abnormal palate morphology	6418	SET	OMIM:618106
HP:0000174	Abnormal palate morphology	51259	TMEM216	OMIM:608091
HP:0000174	Abnormal palate morphology	51259	TMEM216	ORPHA:2754
HP:0000174	Abnormal palate morphology	4703	NEB	OMIM:256030
HP:0000174	Abnormal palate morphology	4703	NEB	ORPHA:399103
HP:0000174	Abnormal palate morphology	4703	NEB	ORPHA:171436
HP:0000174	Abnormal palate morphology	4703	NEB	ORPHA:171439
HP:0000174	Abnormal palate morphology	50814	NSDHL	ORPHA:251383
HP:0000174	Abnormal palate morphology	50814	NSDHL	OMIM:300831
HP:0000174	Abnormal palate morphology	128869	PIGU	OMIM:618590
HP:0000174	Abnormal palate morphology	27125	AFF4	ORPHA:444077
HP:0000174	Abnormal palate morphology	5515	PPP2CA	OMIM:618354
HP:0000174	Abnormal palate morphology	51114	ZDHHC9	ORPHA:776
HP:0000174	Abnormal palate morphology	65109	UPF3B	ORPHA:776
HP:0000174	Abnormal palate morphology	65109	UPF3B	OMIM:300676
HP:0000174	Abnormal palate morphology	56975	FAM20C	OMIM:259775
HP:0000174	Abnormal palate morphology	5980	REV3L	ORPHA:570
HP:0000174	Abnormal palate morphology	23129	PLXND1	ORPHA:570
HP:0000174	Abnormal palate morphology	4784	NFIX	OMIM:602535
HP:0000174	Abnormal palate morphology	4784	NFIX	ORPHA:420179
HP:0000174	Abnormal palate morphology	3039	HBA1	ORPHA:98791
HP:0000174	Abnormal palate morphology	3040	HBA2	ORPHA:98791
HP:0000174	Abnormal palate morphology	51434	ANAPC7	OMIM:619699
HP:0000174	Abnormal palate morphology	4998	ORC1	OMIM:224690
HP:0000174	Abnormal palate morphology	1621	DBH	OMIM:223360
HP:0000174	Abnormal palate morphology	4052	LTBP1	OMIM:619451
HP:0000174	Abnormal palate morphology	84068	SLC10A7	OMIM:618363
HP:0000174	Abnormal palate morphology	3756	KCNH1	OMIM:135500
HP:0000174	Abnormal palate morphology	3756	KCNH1	ORPHA:3473
HP:0000174	Abnormal palate morphology	3756	KCNH1	ORPHA:420561
HP:0000174	Abnormal palate morphology	201163	FLCN	OMIM:610883
HP:0000174	Abnormal palate morphology	7136	TNNI2	OMIM:601680
HP:0000174	Abnormal palate morphology	7136	TNNI2	ORPHA:1147
HP:0000174	Abnormal palate morphology	1009	CDH11	OMIM:211380
HP:0000174	Abnormal palate morphology	1009	CDH11	OMIM:619736
HP:0000174	Abnormal palate morphology	7703	PCGF2	OMIM:618371
HP:0000174	Abnormal palate morphology	1301	COL11A1	ORPHA:560
HP:0000174	Abnormal palate morphology	4556	MT-TE	ORPHA:254864
HP:0000174	Abnormal palate morphology	55687	TRMU	ORPHA:254864
HP:0000174	Abnormal palate morphology	633	BGN	OMIM:300989
HP:0000174	Abnormal palate morphology	9758	FRMPD4	OMIM:300983
HP:0000174	Abnormal palate morphology	3188	HNRNPH2	OMIM:300986
HP:0000174	Abnormal palate morphology	4613	MYCN	OMIM:164280
HP:0000174	Abnormal palate morphology	55975	KLHL7	OMIM:617055
HP:0000174	Abnormal palate morphology	65250	CPLANE1	OMIM:277170
HP:0000174	Abnormal palate morphology	65250	CPLANE1	ORPHA:2754
HP:0000174	Abnormal palate morphology	57061	HYMAI	ORPHA:96191
HP:0000174	Abnormal palate morphology	5325	PLAGL1	ORPHA:96191
HP:0000174	Abnormal palate morphology	348180	CTU2	OMIM:618142
HP:0000174	Abnormal palate morphology	6711	SPTBN1	OMIM:619475
HP:0000174	Abnormal palate morphology	80036	TRPM3	OMIM:620224
HP:0000174	Abnormal palate morphology	3248	HPGD	OMIM:259100
HP:0000174	Abnormal palate morphology	388015	RTL1	ORPHA:96184
HP:0000174	Abnormal palate morphology	388015	RTL1	ORPHA:254531
HP:0000174	Abnormal palate morphology	8788	DLK1	ORPHA:96184
HP:0000174	Abnormal palate morphology	8788	DLK1	ORPHA:254531
HP:0000174	Abnormal palate morphology	55384	MEG3	ORPHA:96184
HP:0000174	Abnormal palate morphology	55384	MEG3	ORPHA:254531
HP:0000174	Abnormal palate morphology	4000	LMNA	ORPHA:740
HP:0000174	Abnormal palate morphology	4000	LMNA	ORPHA:90153
HP:0000174	Abnormal palate morphology	4000	LMNA	OMIM:248370
HP:0000174	Abnormal palate morphology	10269	ZMPSTE24	ORPHA:740
HP:0000174	Abnormal palate morphology	10269	ZMPSTE24	OMIM:608612
HP:0000174	Abnormal palate morphology	10682	EBP	OMIM:300960
HP:0000174	Abnormal palate morphology	10682	EBP	ORPHA:401973
HP:0000174	Abnormal palate morphology	10682	EBP	ORPHA:35173
HP:0000174	Abnormal palate morphology	4927	NUP88	OMIM:618393
HP:0000174	Abnormal palate morphology	1457	CSNK2A1	OMIM:617062
HP:0000174	Abnormal palate morphology	7204	TRIO	OMIM:617061
HP:0000174	Abnormal palate morphology	7204	TRIO	OMIM:618825
HP:0000174	Abnormal palate morphology	7204	TRIO	ORPHA:476126
HP:0000174	Abnormal palate morphology	9325	TRIP4	OMIM:617066
HP:0000174	Abnormal palate morphology	9325	TRIP4	ORPHA:486815
HP:0000174	Abnormal palate morphology	9325	TRIP4	OMIM:616866
HP:0000174	Abnormal palate morphology	203068	TUBB	OMIM:156610
HP:0000174	Abnormal palate morphology	374879	ZNF699	OMIM:619488
HP:0000174	Abnormal palate morphology	8318	CDC45	OMIM:617063
HP:0000174	Abnormal palate morphology	28952	CCDC22	OMIM:300963
HP:0000174	Abnormal palate morphology	91875	TTC5	OMIM:619244
HP:0000174	Abnormal palate morphology	9373	PLAA	ORPHA:521426
HP:0000174	Abnormal palate morphology	9373	PLAA	OMIM:617527
HP:0000174	Abnormal palate morphology	8450	CUL4B	ORPHA:85293
HP:0000174	Abnormal palate morphology	55717	WDR11	OMIM:620237
HP:0000174	Abnormal palate morphology	126792	B3GALT6	OMIM:271640
HP:0000174	Abnormal palate morphology	126792	B3GALT6	ORPHA:93359
HP:0000174	Abnormal palate morphology	126792	B3GALT6	ORPHA:536467
HP:0000174	Abnormal palate morphology	1893	ECM1	ORPHA:530
HP:0000174	Abnormal palate morphology	23387	SIK3	OMIM:618162
HP:0000174	Abnormal palate morphology	80267	EDEM3	OMIM:619493
HP:0000174	Abnormal palate morphology	10084	PQBP1	OMIM:309500
HP:0000174	Abnormal palate morphology	8242	KDM5C	ORPHA:85279
HP:0000174	Abnormal palate morphology	8242	KDM5C	OMIM:300534
HP:0000174	Abnormal palate morphology	1073	CFL2	OMIM:610687
HP:0000174	Abnormal palate morphology	1073	CFL2	ORPHA:171436
HP:0000174	Abnormal palate morphology	3643	INSR	ORPHA:769
HP:0000174	Abnormal palate morphology	3643	INSR	OMIM:262190
HP:0000174	Abnormal palate morphology	779	CACNA1S	OMIM:620246
HP:0000174	Abnormal palate morphology	84081	NSRP1	OMIM:620001
HP:0000174	Abnormal palate morphology	10079	ATP9A	OMIM:620242
HP:0000174	Abnormal palate morphology	114034	TOE1	ORPHA:284339
HP:0000174	Abnormal palate morphology	114034	TOE1	OMIM:614969
HP:0000174	Abnormal palate morphology	9562	MINPP1	ORPHA:284339
HP:0000174	Abnormal palate morphology	84842	HPDL	OMIM:619026
HP:0000174	Abnormal palate morphology	5167	ENPP1	ORPHA:758
HP:0000174	Abnormal palate morphology	368	ABCC6	ORPHA:758
HP:0000174	Abnormal palate morphology	368	ABCC6	OMIM:177850
HP:0000174	Abnormal palate morphology	27445	PCLO	OMIM:608027
HP:0000174	Abnormal palate morphology	65055	REEP1	OMIM:620011
HP:0000174	Abnormal palate morphology	8085	KMT2D	OMIM:147920
HP:0000174	Abnormal palate morphology	8085	KMT2D	ORPHA:2322
HP:0000174	Abnormal palate morphology	7403	KDM6A	OMIM:147920
HP:0000174	Abnormal palate morphology	7403	KDM6A	ORPHA:2322
HP:0000174	Abnormal palate morphology	7403	KDM6A	OMIM:300867
HP:0000174	Abnormal palate morphology	8243	SMC1A	OMIM:300590
HP:0000174	Abnormal palate morphology	8243	SMC1A	ORPHA:199
HP:0000174	Abnormal palate morphology	8243	SMC1A	ORPHA:220386
HP:0000174	Abnormal palate morphology	324	APC	ORPHA:261584
HP:0000174	Abnormal palate morphology	6309	SC5D	ORPHA:46059
HP:0000174	Abnormal palate morphology	6309	SC5D	OMIM:607330
HP:0000174	Abnormal palate morphology	5393	EXOSC9	OMIM:618065
HP:0000174	Abnormal palate morphology	50484	RRM2B	ORPHA:329336
HP:0000174	Abnormal palate morphology	246243	RNASEH1	ORPHA:329336
HP:0000174	Abnormal palate morphology	161742	SPRED1	OMIM:611431
HP:0000174	Abnormal palate morphology	5784	PTPN14	OMIM:613611
HP:0000174	Abnormal palate morphology	673	BRAF	OMIM:115150
HP:0000174	Abnormal palate morphology	673	BRAF	ORPHA:1340
HP:0000174	Abnormal palate morphology	673	BRAF	OMIM:163950
HP:0000174	Abnormal palate morphology	57539	WDR35	OMIM:613610
HP:0000174	Abnormal palate morphology	57539	WDR35	OMIM:614091
HP:0000174	Abnormal palate morphology	781	CACNA2D1	OMIM:620149
HP:0000174	Abnormal palate morphology	1278	COL1A2	ORPHA:230851
HP:0000174	Abnormal palate morphology	89910	UBE3B	OMIM:244450
HP:0000174	Abnormal palate morphology	55788	LMBRD1	OMIM:277380
HP:0000174	Abnormal palate morphology	6662	SOX9	OMIM:114290
HP:0000174	Abnormal palate morphology	10978	CLP1	OMIM:615803
HP:0000174	Abnormal palate morphology	10225	CD96	OMIM:211750
HP:0000174	Abnormal palate morphology	10225	CD96	ORPHA:1308
HP:0000174	Abnormal palate morphology	26153	KIF26A	OMIM:620156
HP:0000174	Abnormal palate morphology	9382	COG1	OMIM:611209
HP:0000174	Abnormal palate morphology	9382	COG1	ORPHA:263508
HP:0000174	Abnormal palate morphology	84992	PIGY	ORPHA:247262
HP:0000174	Abnormal palate morphology	84992	PIGY	OMIM:616809
HP:0000174	Abnormal palate morphology	84720	PIGO	ORPHA:247262
HP:0000174	Abnormal palate morphology	93210	PGAP3	ORPHA:247262
HP:0000174	Abnormal palate morphology	284098	PIGW	ORPHA:247262
HP:0000174	Abnormal palate morphology	284098	PIGW	OMIM:616025
HP:0000174	Abnormal palate morphology	27315	PGAP2	ORPHA:247262
HP:0000174	Abnormal palate morphology	55650	PIGV	ORPHA:247262
HP:0000174	Abnormal palate morphology	9487	PIGL	ORPHA:247262
HP:0000174	Abnormal palate morphology	1272	CNTN1	OMIM:612540
HP:0000174	Abnormal palate morphology	6261	RYR1	OMIM:255320
HP:0000174	Abnormal palate morphology	6261	RYR1	ORPHA:98905
HP:0000174	Abnormal palate morphology	6261	RYR1	OMIM:619542
HP:0000174	Abnormal palate morphology	6261	RYR1	ORPHA:169186
HP:0000174	Abnormal palate morphology	92579	G6PC3	OMIM:612541
HP:0000174	Abnormal palate morphology	29967	LRP12	OMIM:164310
HP:0000174	Abnormal palate morphology	23116	TOGARAM1	OMIM:619185
HP:0000174	Abnormal palate morphology	23036	ZNF292	OMIM:619188
HP:0000174	Abnormal palate morphology	7170	TPM3	OMIM:255310
HP:0000174	Abnormal palate morphology	7170	TPM3	OMIM:609284
HP:0000174	Abnormal palate morphology	7170	TPM3	ORPHA:171881
HP:0000174	Abnormal palate morphology	7170	TPM3	ORPHA:2020
HP:0000174	Abnormal palate morphology	7170	TPM3	ORPHA:171439
HP:0000174	Abnormal palate morphology	23545	ATP6V0A2	OMIM:278250
HP:0000174	Abnormal palate morphology	23545	ATP6V0A2	OMIM:219200
HP:0000174	Abnormal palate morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000174	Abnormal palate morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000174	Abnormal palate morphology	23314	SATB2	OMIM:612313
HP:0000174	Abnormal palate morphology	23314	SATB2	ORPHA:576283
HP:0000174	Abnormal palate morphology	23314	SATB2	ORPHA:251028
HP:0000174	Abnormal palate morphology	23314	SATB2	ORPHA:251019
HP:0000174	Abnormal palate morphology	7020	TFAP2A	ORPHA:1297
HP:0000174	Abnormal palate morphology	25942	SIN3A	OMIM:613406
HP:0000174	Abnormal palate morphology	3782	KCNN3	ORPHA:3473
HP:0000174	Abnormal palate morphology	3782	KCNN3	OMIM:618658
HP:0000174	Abnormal palate morphology	10522	DEAF1	OMIM:615828
HP:0000174	Abnormal palate morphology	54084	TSPEAR	OMIM:620173
HP:0000174	Abnormal palate morphology	3192	HNRNPU	ORPHA:238769
HP:0000174	Abnormal palate morphology	4593	MUSK	OMIM:208150
HP:0000174	Abnormal palate morphology	4593	MUSK	ORPHA:98913
HP:0000174	Abnormal palate morphology	2629	GBA1	ORPHA:85212
HP:0000174	Abnormal palate morphology	5063	PAK3	OMIM:300558
HP:0000174	Abnormal palate morphology	79753	SNIP1	OMIM:614501
HP:0000174	Abnormal palate morphology	3211	HOXB1	OMIM:614744
HP:0000174	Abnormal palate morphology	10056	FARSB	OMIM:613658
HP:0000174	Abnormal palate morphology	54499	TMCO1	OMIM:213980
HP:0000174	Abnormal palate morphology	55719	SLF2	OMIM:620184
HP:0000174	Abnormal palate morphology	23137	SMC5	OMIM:620185
HP:0000174	Abnormal palate morphology	79759	ZNF668	OMIM:620194
HP:0000174	Abnormal palate morphology	283209	PGM2L1	OMIM:620191
HP:0000174	Abnormal palate morphology	57459	GATAD2B	ORPHA:363686
HP:0000174	Abnormal palate morphology	8050	PDHX	OMIM:245349
HP:0000174	Abnormal palate morphology	23261	CAMTA1	OMIM:614756
HP:0000174	Abnormal palate morphology	8481	OFD1	OMIM:311200
HP:0000174	Abnormal palate morphology	8481	OFD1	ORPHA:2750
HP:0000174	Abnormal palate morphology	8481	OFD1	ORPHA:2754
HP:0000174	Abnormal palate morphology	8481	OFD1	OMIM:300209
HP:0000174	Abnormal palate morphology	546	ATRX	OMIM:309580
HP:0000174	Abnormal palate morphology	80324	PUS1	ORPHA:2598
HP:0000174	Abnormal palate morphology	80324	PUS1	OMIM:600462
HP:0000174	Abnormal palate morphology	51067	YARS2	ORPHA:2598
HP:0000174	Abnormal palate morphology	91252	SLC39A13	OMIM:612350
HP:0000174	Abnormal palate morphology	22907	DHX30	OMIM:617804
HP:0000174	Abnormal palate morphology	57724	EPG5	ORPHA:1493
HP:0000174	Abnormal palate morphology	57724	EPG5	OMIM:242840
HP:0000174	Abnormal palate morphology	6664	SOX11	OMIM:615866
HP:0000174	Abnormal palate morphology	26123	TCTN3	OMIM:258860
HP:0000174	Abnormal palate morphology	26123	TCTN3	ORPHA:2754
HP:0000174	Abnormal palate morphology	10075	HUWE1	OMIM:309590
HP:0000174	Abnormal palate morphology	5979	RET	OMIM:162300
HP:0000174	Abnormal palate morphology	1305	COL13A1	OMIM:616720
HP:0000174	Abnormal palate morphology	1305	COL13A1	ORPHA:98914
HP:0000174	Abnormal palate morphology	1305	COL13A1	ORPHA:98913
HP:0000174	Abnormal palate morphology	11133	KPTN	OMIM:615637
HP:0000174	Abnormal palate morphology	11133	KPTN	ORPHA:397612
HP:0000174	Abnormal palate morphology	4747	NEFL	OMIM:607684
HP:0000174	Abnormal palate morphology	6473	SHOX	OMIM:127300
HP:0000174	Abnormal palate morphology	6473	SHOX	ORPHA:314795
HP:0000174	Abnormal palate morphology	6473	SHOX	ORPHA:2632
HP:0000174	Abnormal palate morphology	4854	NOTCH3	OMIM:130720
HP:0000174	Abnormal palate morphology	4854	NOTCH3	ORPHA:2789
HP:0000174	Abnormal palate morphology	84162	BLTP1	OMIM:617822
HP:0000174	Abnormal palate morphology	473	RERE	OMIM:616975
HP:0000174	Abnormal palate morphology	2782	GNB1	OMIM:616973
HP:0000174	Abnormal palate morphology	2782	GNB1	ORPHA:488613
HP:0000174	Abnormal palate morphology	3097	HIVEP2	OMIM:616977
HP:0000174	Abnormal palate morphology	10651	MTX2	ORPHA:90153
HP:0000174	Abnormal palate morphology	10651	MTX2	OMIM:619127
HP:0000174	Abnormal palate morphology	23097	CDK19	OMIM:618916
HP:0000174	Abnormal palate morphology	4131	MAP1B	OMIM:618918
HP:0000174	Abnormal palate morphology	55906	ZC4H2	OMIM:314580
HP:0000174	Abnormal palate morphology	2138	EYA1	ORPHA:2792
HP:0000174	Abnormal palate morphology	2138	EYA1	OMIM:113650
HP:0000174	Abnormal palate morphology	2138	EYA1	OMIM:166780
HP:0000174	Abnormal palate morphology	5075	PAX1	ORPHA:2792
HP:0000174	Abnormal palate morphology	3759	KCNJ2	OMIM:170390
HP:0000174	Abnormal palate morphology	3759	KCNJ2	ORPHA:37553
HP:0000174	Abnormal palate morphology	1000	CDH2	OMIM:618929
HP:0000174	Abnormal palate morphology	55764	IFT122	OMIM:218330
HP:0000174	Abnormal palate morphology	25	ABL1	OMIM:617602
HP:0000174	Abnormal palate morphology	545	ATR	OMIM:210600
HP:0000174	Abnormal palate morphology	6638	SNRPN	ORPHA:177907
HP:0000174	Abnormal palate morphology	760	CA2	ORPHA:2785
HP:0000174	Abnormal palate morphology	23476	BRD4	ORPHA:199
HP:0000174	Abnormal palate morphology	9126	SMC3	ORPHA:199
HP:0000174	Abnormal palate morphology	9126	SMC3	OMIM:610759
HP:0000174	Abnormal palate morphology	55869	HDAC8	ORPHA:199
HP:0000174	Abnormal palate morphology	55869	HDAC8	OMIM:300882
HP:0000174	Abnormal palate morphology	9997	SCO2	OMIM:604377
HP:0000174	Abnormal palate morphology	8270	LAGE3	OMIM:301006
HP:0000174	Abnormal palate morphology	1213	CLTC	OMIM:617854
HP:0000174	Abnormal palate morphology	4329	ALDH6A1	OMIM:614105
HP:0000174	Abnormal palate morphology	55617	TASP1	OMIM:618950
HP:0000174	Abnormal palate morphology	6182	MRPL12	OMIM:618951
HP:0000174	Abnormal palate morphology	1806	DPYD	ORPHA:1675
HP:0000174	Abnormal palate morphology	60482	SLC5A7	ORPHA:98914
HP:0000174	Abnormal palate morphology	4649	MYO9A	ORPHA:98914
HP:0000174	Abnormal palate morphology	1103	CHAT	ORPHA:98914
HP:0000174	Abnormal palate morphology	6576	SLC25A1	ORPHA:98914
HP:0000174	Abnormal palate morphology	6843	VAMP1	ORPHA:98914
HP:0000174	Abnormal palate morphology	375790	AGRN	ORPHA:98914
HP:0000174	Abnormal palate morphology	375790	AGRN	ORPHA:98913
HP:0000174	Abnormal palate morphology	375790	AGRN	OMIM:615120
HP:0000174	Abnormal palate morphology	127833	SYT2	ORPHA:98914
HP:0000174	Abnormal palate morphology	6572	SLC18A3	ORPHA:98914
HP:0000174	Abnormal palate morphology	6616	SNAP25	ORPHA:98914
HP:0000174	Abnormal palate morphology	8292	COLQ	ORPHA:98915
HP:0000174	Abnormal palate morphology	3913	LAMB2	ORPHA:98915
HP:0000174	Abnormal palate morphology	4038	LRP4	ORPHA:98913
HP:0000174	Abnormal palate morphology	1140	CHRNB1	ORPHA:98913
HP:0000174	Abnormal palate morphology	1140	CHRNB1	OMIM:616313
HP:0000174	Abnormal palate morphology	221264	AK9	ORPHA:98913
HP:0000174	Abnormal palate morphology	285489	DOK7	ORPHA:98913
HP:0000174	Abnormal palate morphology	139285	AMER1	OMIM:300373
HP:0000174	Abnormal palate morphology	10020	GNE	OMIM:269921
HP:0000174	Abnormal palate morphology	26503	SLC17A5	OMIM:269920
HP:0000174	Abnormal palate morphology	650	BMP2	OMIM:617877
HP:0000174	Abnormal palate morphology	84700	MYO18B	OMIM:616549
HP:0000174	Abnormal palate morphology	4621	MYH3	ORPHA:2990
HP:0000174	Abnormal palate morphology	4621	MYH3	OMIM:193700
HP:0000174	Abnormal palate morphology	4621	MYH3	ORPHA:1147
HP:0000174	Abnormal palate morphology	1146	CHRNG	ORPHA:2990
HP:0000174	Abnormal palate morphology	1146	CHRNG	OMIM:265000
HP:0000174	Abnormal palate morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000174	Abnormal palate morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000174	Abnormal palate morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000174	Abnormal palate morphology	25782	RAB3GAP2	OMIM:212720
HP:0000174	Abnormal palate morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000174	Abnormal palate morphology	128637	TBC1D20	ORPHA:2510
HP:0000174	Abnormal palate morphology	10210	TOPORS	ORPHA:2754
HP:0000174	Abnormal palate morphology	9851	KIAA0753	ORPHA:2754
HP:0000174	Abnormal palate morphology	5147	PDE6D	ORPHA:2754
HP:0000174	Abnormal palate morphology	317662	FAM149B1	ORPHA:2754
HP:0000174	Abnormal palate morphology	55553	SOX6	OMIM:618971
HP:0000174	Abnormal palate morphology	79875	THSD4	OMIM:619825
HP:0000174	Abnormal palate morphology	4281	MID1	ORPHA:2745
HP:0000174	Abnormal palate morphology	4281	MID1	OMIM:300000
HP:0000174	Abnormal palate morphology	529	ATP6V1E1	OMIM:617402
HP:0000174	Abnormal palate morphology	529	ATP6V1E1	ORPHA:357074
HP:0000174	Abnormal palate morphology	4654	MYOD1	OMIM:618975
HP:0000174	Abnormal palate morphology	3762	KCNJ5	ORPHA:37553
HP:0000174	Abnormal palate morphology	7528	YY1	ORPHA:506358
HP:0000174	Abnormal palate morphology	7528	YY1	OMIM:617557
HP:0000174	Abnormal palate morphology	8036	SHOC2	OMIM:607721
HP:0000174	Abnormal palate morphology	104	ADARB1	OMIM:618862
HP:0000174	Abnormal palate morphology	6495	SIX1	OMIM:113650
HP:0000174	Abnormal palate morphology	9853	RUSC2	OMIM:617773
HP:0000174	Abnormal palate morphology	1947	EFNB1	ORPHA:1520
HP:0000174	Abnormal palate morphology	81857	MED25	OMIM:616449
HP:0000174	Abnormal palate morphology	84942	WDR73	OMIM:251300
HP:0000174	Abnormal palate morphology	538	ATP7A	OMIM:304150
HP:0000174	Abnormal palate morphology	5830	PEX5	OMIM:202370
HP:0000174	Abnormal palate morphology	5830	PEX5	ORPHA:912
HP:0000174	Abnormal palate morphology	5189	PEX1	OMIM:214100
HP:0000174	Abnormal palate morphology	5189	PEX1	ORPHA:912
HP:0000174	Abnormal palate morphology	55870	ASH1L	OMIM:617796
HP:0000174	Abnormal palate morphology	9469	CHST3	OMIM:143095
HP:0000174	Abnormal palate morphology	4853	NOTCH2	OMIM:102500
HP:0000174	Abnormal palate morphology	10381	TUBB3	ORPHA:300570
HP:0000174	Abnormal palate morphology	85365	ALG2	OMIM:616228
HP:0000174	Abnormal palate morphology	85365	ALG2	OMIM:607906
HP:0000174	Abnormal palate morphology	85365	ALG2	ORPHA:353327
HP:0000174	Abnormal palate morphology	2626	GATA4	ORPHA:251071
HP:0000174	Abnormal palate morphology	6872	TAF1	ORPHA:480907
HP:0000174	Abnormal palate morphology	22872	SEC31A	OMIM:618651
HP:0000174	Abnormal palate morphology	4763	NF1	ORPHA:363700
HP:0000174	Abnormal palate morphology	1303	COL12A1	OMIM:616470
HP:0000174	Abnormal palate morphology	1656	DDX6	OMIM:618653
HP:0000174	Abnormal palate morphology	1501	CTNND2	ORPHA:281
HP:0000174	Abnormal palate morphology	9037	SEMA5A	ORPHA:281
HP:0000174	Abnormal palate morphology	88	ACTN2	OMIM:618654
HP:0000174	Abnormal palate morphology	5442	POLRMT	OMIM:619743
HP:0000174	Abnormal palate morphology	4297	KMT2A	ORPHA:319182
HP:0000174	Abnormal palate morphology	4297	KMT2A	OMIM:605130
HP:0000174	Abnormal palate morphology	4632	MYL1	OMIM:618414
HP:0000174	Abnormal palate morphology	8642	DCHS1	OMIM:601390
HP:0000174	Abnormal palate morphology	4053	LTBP2	OMIM:251750
HP:0000174	Abnormal palate morphology	3476	IGBP1	ORPHA:52055
HP:0000174	Abnormal palate morphology	3476	IGBP1	OMIM:300472
HP:0000174	Abnormal palate morphology	8241	RBM10	OMIM:311900
HP:0000174	Abnormal palate morphology	3981	LIG4	ORPHA:235
HP:0000174	Abnormal palate morphology	54888	NSUN2	ORPHA:235
HP:0000174	Abnormal palate morphology	23312	DMXL2	OMIM:618663
HP:0000174	Abnormal palate morphology	3572	IL6ST	OMIM:619752
HP:0000174	Abnormal palate morphology	3572	IL6ST	OMIM:619750
HP:0000174	Abnormal palate morphology	56006	SMG9	OMIM:619995
HP:0000174	Abnormal palate morphology	54880	BCOR	OMIM:309800
HP:0000174	Abnormal palate morphology	1182	CLCN3	OMIM:619512
HP:0000174	Abnormal palate morphology	10717	AP4B1	OMIM:614066
HP:0000174	Abnormal palate morphology	10717	AP4B1	ORPHA:280763
HP:0000174	Abnormal palate morphology	51604	PIGT	OMIM:615398
HP:0000174	Abnormal palate morphology	11154	AP4S1	OMIM:614067
HP:0000174	Abnormal palate morphology	11154	AP4S1	ORPHA:280763
HP:0000174	Abnormal palate morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000174	Abnormal palate morphology	7531	YWHAE	ORPHA:217385
HP:0000174	Abnormal palate morphology	84665	MYPN	OMIM:617336
HP:0000174	Abnormal palate morphology	84665	MYPN	ORPHA:171881
HP:0000174	Abnormal palate morphology	84665	MYPN	ORPHA:171439
HP:0000174	Abnormal palate morphology	9841	ZBTB24	OMIM:614069
HP:0000174	Abnormal palate morphology	286	ANK1	ORPHA:251066
HP:0000174	Abnormal palate morphology	145258	GSC	OMIM:602471
HP:0000174	Abnormal palate morphology	8314	BAP1	OMIM:619762
HP:0000174	Abnormal palate morphology	7750	ZMYM2	OMIM:619522
HP:0000174	Abnormal palate morphology	57492	ARID1B	ORPHA:251056
HP:0000174	Abnormal palate morphology	57492	ARID1B	OMIM:135900
HP:0000174	Abnormal palate morphology	7841	MOGS	ORPHA:79330
HP:0000174	Abnormal palate morphology	7841	MOGS	OMIM:606056
HP:0000174	Abnormal palate morphology	2556	GABRA3	OMIM:301091
HP:0000174	Abnormal palate morphology	2271	FH	OMIM:606812
HP:0000174	Abnormal palate morphology	5373	PMM2	ORPHA:79318
HP:0000174	Abnormal palate morphology	23162	MAPK8IP3	OMIM:618443
HP:0000174	Abnormal palate morphology	4123	MAN2C1	OMIM:619775
HP:0000174	Abnormal palate morphology	23219	FBXO28	OMIM:619777
HP:0000174	Abnormal palate morphology	1107	CHD3	OMIM:618205
HP:0000174	Abnormal palate morphology	9496	TBX4	OMIM:147891
HP:0000174	Abnormal palate morphology	10195	ALG3	ORPHA:79321
HP:0000174	Abnormal palate morphology	10195	ALG3	OMIM:601110
HP:0000174	Abnormal palate morphology	9896	FIG4	OMIM:216340
HP:0000174	Abnormal palate morphology	3730	ANOS1	OMIM:308700
HP:0000174	Abnormal palate morphology	3897	L1CAM	OMIM:304100
HP:0000174	Abnormal palate morphology	3763	KCNJ6	OMIM:614098
HP:0000174	Abnormal palate morphology	3763	KCNJ6	ORPHA:435628
HP:0000174	Abnormal palate morphology	29968	PSAT1	OMIM:616038
HP:0000174	Abnormal palate morphology	6878	TAF6	OMIM:617126
HP:0000174	Abnormal palate morphology	164	AP1G1	OMIM:619548
HP:0000174	Abnormal palate morphology	6929	TCF3	ORPHA:33110
HP:0000174	Abnormal palate morphology	973	CD79A	ORPHA:33110
HP:0000174	Abnormal palate morphology	974	CD79B	ORPHA:33110
HP:0000174	Abnormal palate morphology	3543	IGLL1	ORPHA:33110
HP:0000174	Abnormal palate morphology	3507	IGHM	ORPHA:33110
HP:0000174	Abnormal palate morphology	29760	BLNK	ORPHA:33110
HP:0000174	Abnormal palate morphology	5295	PIK3R1	ORPHA:33110
HP:0000174	Abnormal palate morphology	56262	LRRC8A	ORPHA:33110
HP:0000174	Abnormal palate morphology	56262	LRRC8A	OMIM:613506
HP:0000174	Abnormal palate morphology	353116	RILPL1	OMIM:619790
HP:0000174	Abnormal palate morphology	84706	GPT2	OMIM:616281
HP:0000174	Abnormal palate morphology	10466	COG5	ORPHA:263487
HP:0000174	Abnormal palate morphology	23013	SPEN	OMIM:619312
HP:0000174	Abnormal palate morphology	6885	MAP3K7	OMIM:617137
HP:0000174	Abnormal palate morphology	23363	OBSL1	OMIM:612921
HP:0000174	Abnormal palate morphology	9871	SEC24D	OMIM:616294
HP:0000174	Abnormal palate morphology	1289	COL5A1	OMIM:619329
HP:0000174	Abnormal palate morphology	9179	AP4M1	OMIM:612936
HP:0000174	Abnormal palate morphology	9179	AP4M1	ORPHA:280763
HP:0000174	Abnormal palate morphology	1725	DHPS	OMIM:618480
HP:0000174	Abnormal palate morphology	1741	DLG3	OMIM:300850
HP:0000174	Abnormal palate morphology	2530	FUT8	OMIM:618005
HP:0000174	Abnormal palate morphology	54496	PRMT7	OMIM:617157
HP:0000174	Abnormal palate morphology	7169	TPM2	OMIM:609285
HP:0000174	Abnormal palate morphology	7169	TPM2	ORPHA:171436
HP:0000174	Abnormal palate morphology	7169	TPM2	ORPHA:171881
HP:0000174	Abnormal palate morphology	7169	TPM2	ORPHA:2020
HP:0000174	Abnormal palate morphology	7169	TPM2	ORPHA:1147
HP:0000174	Abnormal palate morphology	7169	TPM2	ORPHA:171439
HP:0000174	Abnormal palate morphology	5831	PYCR1	OMIM:612940
HP:0000174	Abnormal palate morphology	29920	PYCR2	ORPHA:481152
HP:0000174	Abnormal palate morphology	23389	MED13L	ORPHA:369891
HP:0000174	Abnormal palate morphology	444	ASPH	OMIM:601552
HP:0000174	Abnormal palate morphology	10483	SEC23B	ORPHA:201
HP:0000174	Abnormal palate morphology	6390	SDHB	ORPHA:201
HP:0000174	Abnormal palate morphology	6392	SDHD	ORPHA:201
HP:0000174	Abnormal palate morphology	6391	SDHC	ORPHA:201
HP:0000174	Abnormal palate morphology	207	AKT1	ORPHA:201
HP:0000174	Abnormal palate morphology	207	AKT1	OMIM:615109
HP:0000174	Abnormal palate morphology	205717	USF3	ORPHA:201
HP:0000174	Abnormal palate morphology	5290	PIK3CA	ORPHA:201
HP:0000174	Abnormal palate morphology	5290	PIK3CA	OMIM:615108
HP:0000174	Abnormal palate morphology	100144748	KLLN	ORPHA:201
HP:0000174	Abnormal palate morphology	372	ARCN1	OMIM:617164
HP:0000174	Abnormal palate morphology	9451	EIF2AK3	OMIM:226980
HP:0000174	Abnormal palate morphology	5277	PIGA	OMIM:300868
HP:0000174	Abnormal palate morphology	5283	PIGH	OMIM:618010
HP:0000174	Abnormal palate morphology	4015	LOX	OMIM:617168
HP:0000174	Abnormal palate morphology	84896	ATAD1	OMIM:618011
HP:0000174	Abnormal palate morphology	57187	THOC2	ORPHA:457240
HP:0000174	Abnormal palate morphology	9244	CRLF1	OMIM:272430
HP:0000174	Abnormal palate morphology	9244	CRLF1	ORPHA:1545
HP:0000174	Abnormal palate morphology	10755	GIPC1	ORPHA:98897
HP:0000174	Abnormal palate morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0000174	Abnormal palate morphology	668	FOXL2	OMIM:110100
HP:0000174	Abnormal palate morphology	6611	SMS	ORPHA:3063
HP:0000174	Abnormal palate morphology	57003	CCDC47	OMIM:618268
HP:0000174	Abnormal palate morphology	29895	MYL11	OMIM:619110
HP:0000174	Abnormal palate morphology	84172	POLR1B	ORPHA:861
HP:0000174	Abnormal palate morphology	9533	POLR1C	ORPHA:861
HP:0000174	Abnormal palate morphology	51082	POLR1D	ORPHA:861
HP:0000174	Abnormal palate morphology	285590	SH3PXD2B	OMIM:249420
HP:0000174	Abnormal palate morphology	51715	RAB23	OMIM:201000
HP:0000174	Abnormal palate morphology	29123	ANKRD11	ORPHA:261250
HP:0000174	Abnormal palate morphology	64093	SMOC1	OMIM:206920
HP:0000174	Abnormal palate morphology	64093	SMOC1	ORPHA:1106
HP:0000174	Abnormal palate morphology	23529	CLCF1	OMIM:610313
HP:0000174	Abnormal palate morphology	23529	CLCF1	ORPHA:1545
HP:0000174	Abnormal palate morphology	118924	FRA10AC1	OMIM:620113
HP:0000174	Abnormal palate morphology	22995	CEP152	OMIM:613823
HP:0000174	Abnormal palate morphology	84905	ZNF341	OMIM:618282
HP:0000174	Abnormal palate morphology	23154	NCDN	OMIM:619373
HP:0000174	Abnormal palate morphology	5528	PPP2R5D	ORPHA:457279
HP:0000174	Abnormal palate morphology	2733	GLE1	OMIM:611890
HP:0000174	Abnormal palate morphology	3295	HSD17B4	OMIM:261515
HP:0000174	Abnormal palate morphology	3295	HSD17B4	OMIM:233400
HP:0000174	Abnormal palate morphology	22800	RRAS2	ORPHA:648
HP:0000174	Abnormal palate morphology	867	CBL	ORPHA:648
HP:0000174	Abnormal palate morphology	6016	RIT1	ORPHA:648
HP:0000174	Abnormal palate morphology	6237	RRAS	ORPHA:648
HP:0000174	Abnormal palate morphology	5894	RAF1	ORPHA:648
HP:0000174	Abnormal palate morphology	22808	MRAS	ORPHA:648
HP:0000174	Abnormal palate morphology	200734	SPRED2	ORPHA:648
HP:0000174	Abnormal palate morphology	4893	NRAS	ORPHA:648
HP:0000174	Abnormal palate morphology	6654	SOS1	ORPHA:648
HP:0000174	Abnormal palate morphology	6655	SOS2	ORPHA:648
HP:0000174	Abnormal palate morphology	5781	PTPN11	ORPHA:648
HP:0000174	Abnormal palate morphology	5781	PTPN11	OMIM:163950
HP:0000174	Abnormal palate morphology	5922	RASA2	ORPHA:648
HP:0000174	Abnormal palate morphology	1795	DOCK3	OMIM:618292
HP:0000174	Abnormal palate morphology	11011	TLK2	OMIM:618050
HP:0000174	Abnormal palate morphology	129285	PPP1R21	OMIM:619383
HP:0000174	Abnormal palate morphology	221927	BRAT1	OMIM:618056
HP:0000174	Abnormal palate morphology	3480	IGF1R	OMIM:270450
HP:0000174	Abnormal palate morphology	121340	SP7	OMIM:613849
HP:0000174	Abnormal palate morphology	4702	NDUFA8	OMIM:619272
HP:0000174	Abnormal palate morphology	9131	AIFM1	OMIM:300232
HP:0000174	Abnormal palate morphology	341640	FREM2	ORPHA:2052
HP:0000174	Abnormal palate morphology	80144	FRAS1	ORPHA:2052
HP:0000174	Abnormal palate morphology	23426	GRIP1	ORPHA:2052
HP:0000174	Abnormal palate morphology	10046	MAMLD1	ORPHA:456328
HP:0000174	Abnormal palate morphology	4574	MT-TS1	OMIM:220110
HP:0000174	Abnormal palate morphology	4570	MT-TN	OMIM:220110
HP:0000174	Abnormal palate morphology	6834	SURF1	OMIM:220110
HP:0000174	Abnormal palate morphology	10274	STAG1	ORPHA:502434
HP:0000174	Abnormal palate morphology	1119	CHKA	OMIM:620023
HP:0000174	Abnormal palate morphology	118987	PDZD8	OMIM:620021
HP:0000174	Abnormal palate morphology	23118	TAB2	ORPHA:228410
HP:0000174	Abnormal palate morphology	8443	GNPAT	OMIM:222765
HP:0000174	Abnormal palate morphology	10324	KLHL41	ORPHA:171436
HP:0000174	Abnormal palate morphology	10324	KLHL41	OMIM:615731
HP:0000174	Abnormal palate morphology	10324	KLHL41	ORPHA:171439
HP:0000174	Abnormal palate morphology	56203	LMOD3	ORPHA:171436
HP:0000174	Abnormal palate morphology	170302	ARX	OMIM:300004
HP:0000174	Abnormal palate morphology	170302	ARX	OMIM:300215
HP:0000174	Abnormal palate morphology	29925	GMPPB	ORPHA:353327
HP:0000174	Abnormal palate morphology	1798	DPAGT1	ORPHA:353327
HP:0000174	Abnormal palate morphology	199857	ALG14	ORPHA:353327
HP:0000174	Abnormal palate morphology	84987	COX14	OMIM:619053
HP:0000174	Abnormal palate morphology	274	BIN1	OMIM:255200
HP:0000174	Abnormal palate morphology	274	BIN1	ORPHA:169186
HP:0000174	Abnormal palate morphology	8289	ARID1A	OMIM:614607
HP:0000174	Abnormal palate morphology	55107	ANO1	OMIM:620045
HP:0000174	Abnormal palate morphology	6598	SMARCB1	OMIM:614608
HP:0000174	Abnormal palate morphology	1339	COX6A2	OMIM:619062
HP:0000174	Abnormal palate morphology	4633	MYL2	ORPHA:2020
HP:0000174	Abnormal palate morphology	3679	ITGA7	ORPHA:2020
HP:0000174	Abnormal palate morphology	9200	HACD1	ORPHA:2020
HP:0000174	Abnormal palate morphology	51776	MAP3K20	ORPHA:2020
HP:0000174	Abnormal palate morphology	10352	WARS2	ORPHA:572798
HP:0000174	Abnormal palate morphology	2697	GJA1	OMIM:164200
HP:0000174	Abnormal palate morphology	23265	EXOC7	OMIM:619072
HP:0000174	Abnormal palate morphology	4953	ODC1	OMIM:619075
HP:0000174	Abnormal palate morphology	8905	AP1S2	ORPHA:85335
HP:0000174	Abnormal palate morphology	8239	USP9X	ORPHA:480880
HP:0000174	Abnormal palate morphology	5828	PEX2	OMIM:614866
HP:0000174	Abnormal palate morphology	5828	PEX2	ORPHA:912
HP:0000174	Abnormal palate morphology	10290	SPEG	OMIM:615959
HP:0000174	Abnormal palate morphology	10290	SPEG	ORPHA:169186
HP:0000174	Abnormal palate morphology	157570	ESCO2	ORPHA:3103
HP:0000174	Abnormal palate morphology	157570	ESCO2	OMIM:268300
HP:0000174	Abnormal palate morphology	51611	DPH5	OMIM:620070
HP:0000174	Abnormal palate morphology	78989	COLEC11	OMIM:265050
HP:0000174	Abnormal palate morphology	6774	STAT3	OMIM:147060
HP:0000174	Abnormal palate morphology	5594	MAPK1	OMIM:619087
HP:0000174	Abnormal palate morphology	55670	PEX26	OMIM:614872
HP:0000174	Abnormal palate morphology	55670	PEX26	ORPHA:912
HP:0000174	Abnormal palate morphology	7025	NR2F1	OMIM:615722
HP:0000174	Abnormal palate morphology	3187	HNRNPH1	OMIM:620083
HP:0000174	Abnormal palate morphology	7355	SLC35A2	OMIM:300896
HP:0000174	Abnormal palate morphology	81031	SLC2A10	OMIM:208050
HP:0000174	Abnormal palate morphology	7140	TNNT3	ORPHA:1147
HP:0000174	Abnormal palate morphology	259232	NALCN	ORPHA:1147
HP:0000174	Abnormal palate morphology	8504	PEX3	OMIM:614882
HP:0000174	Abnormal palate morphology	8504	PEX3	ORPHA:912
HP:0000174	Abnormal palate morphology	7317	UBA1	ORPHA:1145
HP:0000174	Abnormal palate morphology	390594	KBTBD13	ORPHA:171439
HP:0000174	Abnormal palate morphology	50628	GEMIN4	OMIM:617913
HP:0000174	Abnormal palate morphology	8195	MKKS	ORPHA:2473
HP:0000174	Abnormal palate morphology	3954	LETM1	OMIM:620089
HP:0000174	Abnormal palate morphology	1487	CTBP1	OMIM:617915
HP:0000174	Abnormal palate morphology	5631	PRPS1	OMIM:300661
HP:0000174	Abnormal palate morphology	9775	EIF4A3	OMIM:268305
HP:0000174	Abnormal palate morphology	667	DST	OMIM:614653
HP:0000174	Abnormal palate morphology	2702	GJA5	OMIM:612474
HP:0000174	Abnormal palate morphology	2703	GJA8	OMIM:612474
HP:0000174	Abnormal palate morphology	7046	TGFBR1	ORPHA:60030
HP:0000174	Abnormal palate morphology	7048	TGFBR2	ORPHA:60030
HP:0000174	Abnormal palate morphology	5824	PEX19	ORPHA:912
HP:0000174	Abnormal palate morphology	8799	PEX11B	ORPHA:912
HP:0000174	Abnormal palate morphology	9409	PEX16	ORPHA:912
HP:0000174	Abnormal palate morphology	5190	PEX6	ORPHA:912
HP:0000174	Abnormal palate morphology	5193	PEX12	ORPHA:912
HP:0000174	Abnormal palate morphology	5194	PEX13	ORPHA:912
HP:0000174	Abnormal palate morphology	5195	PEX14	ORPHA:912
HP:0000174	Abnormal palate morphology	5192	PEX10	ORPHA:912
HP:0000174	Abnormal palate morphology	9698	PUM1	OMIM:617931
HP:0000174	Abnormal palate morphology	2335	FN1	ORPHA:93315
HP:0000174	Abnormal palate morphology	53616	ADAM22	OMIM:617933
HP:0000174	Abnormal palate morphology	85358	SHANK3	OMIM:606232
HP:0000174	Abnormal palate morphology	91179	SCARF2	OMIM:600920
HP:0000174	Abnormal palate morphology	5859	QARS1	OMIM:615760
HP:0000174	Abnormal palate morphology	113179	ADAT3	ORPHA:363528
HP:0000174	Abnormal palate morphology	3313	HSPA9	OMIM:616854
HP:0000174	Abnormal palate morphology	10525	HYOU1	OMIM:233600
HP:0000174	Abnormal palate morphology	1836	SLC26A2	ORPHA:93307
HP:0000174	Abnormal palate morphology	10157	AASS	ORPHA:2203
HP:0000174	Abnormal palate morphology	79631	EFL1	OMIM:617941
HP:0000174	Abnormal palate morphology	30008	EFEMP2	OMIM:614437
HP:0000174	Abnormal palate morphology	5053	PAH	ORPHA:2209
HP:0000174	Abnormal palate morphology	26224	FBXL3	OMIM:606220
HP:0000174	Abnormal palate morphology	4204	MECP2	OMIM:300055
HP:0000174	Abnormal palate morphology	4204	MECP2	OMIM:300260
HP:0000174	Abnormal palate morphology	8831	SYNGAP1	ORPHA:544254
HP:0000174	Abnormal palate morphology	10265	IRX5	OMIM:611174
HP:0000174	Abnormal palate morphology	23511	NUP188	OMIM:618804
HP:0000174	Abnormal palate morphology	5604	MAP2K1	ORPHA:1340
HP:0000174	Abnormal palate morphology	5604	MAP2K1	OMIM:163950
HP:0000174	Abnormal palate morphology	5605	MAP2K2	ORPHA:1340
HP:0000174	Abnormal palate morphology	79633	FAT4	OMIM:615546
HP:0000174	Abnormal palate morphology	55644	OSGEP	OMIM:617729
HP:0000174	Abnormal palate morphology	23233	EXOC6B	ORPHA:93359
HP:0000174	Abnormal palate morphology	8405	SPOP	OMIM:618829
HP:0000174	Abnormal palate morphology	51124	IER3IP1	OMIM:614231
HP:0000174	Abnormal palate morphology	54870	QRICH1	OMIM:617982
HP:0000174	Abnormal palate morphology	5500	PPP1CB	OMIM:617506
HP:0000174	Abnormal palate morphology	100506658	OCLN	OMIM:251290
HP:0000174	Abnormal palate morphology	23431	AP4E1	ORPHA:280763
HP:0000174	Abnormal palate morphology	9320	TRIP12	OMIM:617752
HP:0000174	Abnormal palate morphology	523	ATP6V1A	ORPHA:357074
HP:0000174	Abnormal palate morphology	55023	PHIP	OMIM:617991
HP:0000174	Abnormal palate morphology	200205	IBA57	OMIM:615330
HP:0000174	Abnormal palate morphology	1663	DDX11	OMIM:613398
HP:0000174	Abnormal palate morphology	738	VPS51	OMIM:618606
HP:0000174	Abnormal palate morphology	9757	KMT2B	OMIM:619934
HP:0000174	Abnormal palate morphology	5430	POLR2A	OMIM:618603
HP:0000174	Abnormal palate morphology	57731	SPTBN4	OMIM:617519
HP:0000174	Abnormal palate morphology	9181	ARHGEF2	OMIM:617523
HP:0000174	Abnormal palate morphology	6736	SRY	ORPHA:1772
HP:0000174	Abnormal palate morphology	55753	OGDHL	OMIM:619701
HP:0000174	Abnormal palate morphology	9990	SLC12A6	OMIM:218000
HP:0000174	Abnormal palate morphology	4487	MSX1	ORPHA:199302
HP:0000174	Abnormal palate morphology	4487	MSX1	ORPHA:199306
HP:0000174	Abnormal palate morphology	5818	NECTIN1	ORPHA:199302
HP:0000174	Abnormal palate morphology	5818	NECTIN1	ORPHA:199306
HP:0000174	Abnormal palate morphology	8626	TP63	ORPHA:199302
HP:0000174	Abnormal palate morphology	8626	TP63	ORPHA:199306
HP:0000174	Abnormal palate morphology	8626	TP63	OMIM:129400
HP:0000174	Abnormal palate morphology	3664	IRF6	ORPHA:199302
HP:0000174	Abnormal palate morphology	3664	IRF6	ORPHA:199306
HP:0000174	Abnormal palate morphology	7314	UBB	ORPHA:99772
HP:0000174	Abnormal palate morphology	57822	GRHL3	ORPHA:99772
HP:0000174	Abnormal palate morphology	79228	THOC6	ORPHA:363444
HP:0000174	Abnormal palate morphology	79228	THOC6	OMIM:613680
HP:0000174	Abnormal palate morphology	10262	SF3B4	OMIM:154400
HP:0000174	Abnormal palate morphology	51132	RLIM	OMIM:300978
HP:0000174	Abnormal palate morphology	6477	SIAH1	OMIM:619314
HP:0000174	Abnormal palate morphology	29998	BICRA	OMIM:619325
HP:0000174	Abnormal palate morphology	101929726	MYMX	OMIM:619941
HP:0000174	Abnormal palate morphology	1739	DLG1	ORPHA:199306
HP:0000174	Abnormal palate morphology	652	BMP4	ORPHA:199306
HP:0000174	Abnormal palate morphology	999	CDH1	ORPHA:199306
HP:0000174	Abnormal palate morphology	5156	PDGFRA	ORPHA:199306
HP:0000174	Abnormal palate morphology	9411	ARHGAP29	ORPHA:199306
HP:0000174	Abnormal palate morphology	1748	DLX4	ORPHA:199306
HP:0000174	Abnormal palate morphology	10743	RAI1	OMIM:182290
HP:0000174	Abnormal palate morphology	84617	TUBB6	OMIM:617732
HP:0000174	Abnormal palate morphology	117581	TWIST2	OMIM:209885
HP:0000174	Abnormal palate morphology	5885	RAD21	OMIM:614701
HP:0000174	Abnormal palate morphology	7291	TWIST1	OMIM:617746
HP:0000174	Abnormal palate morphology	9993	DGCR2	OMIM:192430
HP:0000174	Abnormal palate morphology	8220	ESS2	OMIM:192430
HP:0000174	Abnormal palate morphology	8214	DGCR6	OMIM:192430
HP:0000174	Abnormal palate morphology	54487	DGCR8	OMIM:192430
HP:0000174	Abnormal palate morphology	6899	TBX1	OMIM:192430
HP:0000174	Abnormal palate morphology	4750	NEK1	ORPHA:2751
HP:0000174	Abnormal palate morphology	23394	ADNP	OMIM:615873
HP:0000174	Abnormal palate morphology	5447	POR	ORPHA:95699
HP:0000174	Abnormal palate morphology	116931	MED12L	OMIM:618872
HP:0000174	Abnormal palate morphology	57520	HECW2	OMIM:617268
HP:0000174	Abnormal palate morphology	51506	UFC1	OMIM:618076
HP:0000174	Abnormal palate morphology	129563	DIS3L2	ORPHA:2849
HP:0000174	Abnormal palate morphology	137682	NDUFAF6	OMIM:618239
HP:0000174	Abnormal palate morphology	55780	ERMARD	ORPHA:75857
HP:0000174	Abnormal palate morphology	57551	TAOK1	OMIM:619575
HP:0000174	Abnormal palate morphology	8888	MCM3AP	OMIM:618124
HP:0000174	Abnormal palate morphology	4141	MARS1	OMIM:619692
HP:0000174	Abnormal palate morphology	5351	PLOD1	ORPHA:1900
HP:0000174	Abnormal palate morphology	157680	VPS13B	OMIM:216550
HP:0000174	Abnormal palate morphology	157680	VPS13B	ORPHA:193
HP:0000174	Abnormal palate morphology	1281	COL3A1	ORPHA:286
HP:0000174	Abnormal palate morphology	55697	VAC14	ORPHA:3472
HP:0000174	Abnormal palate morphology	93627	TBCK	ORPHA:488632
HP:0000174	Abnormal palate morphology	657	BMPR1A	ORPHA:79076
HP:0000174	Abnormal palate morphology	388662	SLC6A17	ORPHA:457212
HP:0000174	Abnormal palate morphology	8558	CDK10	OMIM:617694
HP:0000174	Abnormal palate morphology	29957	SLC25A24	OMIM:612289
HP:0000174	Abnormal palate morphology	2887	GRB10	ORPHA:96182
HP:0000174	Abnormal palate morphology	56098	PCDHGC4	OMIM:619880
HP:0000174	Abnormal palate morphology	8813	DPM1	OMIM:608799
HP:0000174	Abnormal palate morphology	8813	DPM1	ORPHA:79322
HP:0000174	Abnormal palate morphology	1315	COPB1	OMIM:619255
HP:0000174	Abnormal palate morphology	404672	GTF2H5	ORPHA:33364
HP:0000174	Abnormal palate morphology	2068	ERCC2	ORPHA:33364
HP:0000174	Abnormal palate morphology	7737	RNF113A	ORPHA:33364
HP:0000174	Abnormal palate morphology	136647	MPLKIP	ORPHA:33364
HP:0000174	Abnormal palate morphology	6897	TARS1	ORPHA:33364
HP:0000174	Abnormal palate morphology	2071	ERCC3	ORPHA:33364
HP:0000174	Abnormal palate morphology	2961	GTF2E2	ORPHA:33364
HP:0000174	Abnormal palate morphology	4629	MYH11	ORPHA:91387
HP:0000174	Abnormal palate morphology	59	ACTA2	ORPHA:91387
HP:0000174	Abnormal palate morphology	5592	PRKG1	ORPHA:91387
HP:0000174	Abnormal palate morphology	2301	FOXE3	ORPHA:91387
HP:0000174	Abnormal palate morphology	4144	MAT2A	ORPHA:91387
HP:0000174	Abnormal palate morphology	23493	HEY2	ORPHA:91387
HP:0000174	Abnormal palate morphology	4638	MYLK	ORPHA:91387
HP:0000174	Abnormal palate morphology	2006	ELN	ORPHA:91387
HP:0000174	Abnormal palate morphology	94	ACVRL1	OMIM:600376
HP:0000174	Abnormal palate morphology	2022	ENG	OMIM:187300
HP:0000174	Abnormal palate morphology	79718	TBL1XR1	OMIM:602342
HP:0000174	Abnormal palate morphology	1147	CHUK	OMIM:619339
HP:0000174	Abnormal palate morphology	1500	CTNND1	ORPHA:1997
HP:0000174	Abnormal palate morphology	5626	PROP1	ORPHA:95494
HP:0000174	Abnormal palate morphology	89884	LHX4	ORPHA:95494
HP:0000174	Abnormal palate morphology	3170	FOXA2	ORPHA:95494
HP:0000174	Abnormal palate morphology	5449	POU1F1	ORPHA:95494
HP:0000174	Abnormal palate morphology	5307	PITX1	OMIM:119800
HP:0000174	Abnormal palate morphology	81788	NUAK2	OMIM:619452
HP:0000174	Abnormal palate morphology	22858	CILK1	OMIM:612651
HP:0000174	Abnormal palate morphology	3930	LBR	OMIM:169400
HP:0000174	Abnormal palate morphology	10736	SIX2	ORPHA:488437
HP:0000174	Abnormal palate morphology	23556	PIGN	ORPHA:280633
HP:0000174	Abnormal palate morphology	374654	KIF7	OMIM:200990
HP:0000174	Abnormal palate morphology	4920	ROR2	OMIM:268310
HP:0000174	Abnormal palate morphology	5297	PI4KA	OMIM:616531
HP:0000174	Abnormal palate morphology	5297	PI4KA	OMIM:619708
HP:0000174	Abnormal palate morphology	10459	MAD2L2	ORPHA:84
HP:0000174	Abnormal palate morphology	7516	XRCC2	ORPHA:84
HP:0000174	Abnormal palate morphology	29089	UBE2T	ORPHA:84
HP:0000174	Abnormal palate morphology	675	BRCA2	ORPHA:84
HP:0000174	Abnormal palate morphology	55120	FANCL	ORPHA:84
HP:0000174	Abnormal palate morphology	2177	FANCD2	ORPHA:84
HP:0000174	Abnormal palate morphology	2175	FANCA	ORPHA:84
HP:0000174	Abnormal palate morphology	2187	FANCB	ORPHA:84
HP:0000174	Abnormal palate morphology	2176	FANCC	ORPHA:84
HP:0000174	Abnormal palate morphology	2178	FANCE	ORPHA:84
HP:0000174	Abnormal palate morphology	2188	FANCF	ORPHA:84
HP:0000174	Abnormal palate morphology	2189	FANCG	ORPHA:84
HP:0000174	Abnormal palate morphology	5888	RAD51	ORPHA:84
HP:0000174	Abnormal palate morphology	5889	RAD51C	ORPHA:84
HP:0000174	Abnormal palate morphology	55159	RFWD3	ORPHA:84
HP:0000174	Abnormal palate morphology	83990	BRIP1	ORPHA:84
HP:0000174	Abnormal palate morphology	57697	FANCM	ORPHA:84
HP:0000174	Abnormal palate morphology	79728	PALB2	ORPHA:84
HP:0000174	Abnormal palate morphology	84464	SLX4	ORPHA:84
HP:0000174	Abnormal palate morphology	2072	ERCC4	ORPHA:84
HP:0000174	Abnormal palate morphology	55215	FANCI	ORPHA:84
HP:0000174	Abnormal palate morphology	7042	TGFB2	OMIM:614816
HP:0000174	Abnormal palate morphology	51305	KCNK9	OMIM:612292
HP:0000174	Abnormal palate morphology	4841	NONO	OMIM:300967
HP:0000174	Abnormal palate morphology	246329	STAC3	ORPHA:168572
HP:0000174	Abnormal palate morphology	11128	POLR3A	ORPHA:3455
HP:0000174	Abnormal palate morphology	10526	IPO8	OMIM:619472
HP:0000174	Abnormal palate morphology	6651	SON	ORPHA:500150
HP:0000174	Abnormal palate morphology	7341	SUMO1	OMIM:613705
HP:0000174	Abnormal palate morphology	5573	PRKAR1A	ORPHA:1359
HP:0000174	Abnormal palate morphology	50940	PDE11A	ORPHA:1359
HP:0000174	Abnormal palate morphology	57479	PRR12	OMIM:619539
HP:0000174	Abnormal palate morphology	4041	LRP5	OMIM:607634
HP:0000174	Abnormal palate morphology	4041	LRP5	ORPHA:2790
HP:0000174	Abnormal palate morphology	4041	LRP5	OMIM:144750
HP:0000174	Abnormal palate morphology	6469	SHH	OMIM:147250
HP:0000174	Abnormal palate morphology	26137	ZBTB20	OMIM:259050
HP:0000174	Abnormal palate morphology	9839	ZEB2	ORPHA:261537
HP:0000174	Abnormal palate morphology	9839	ZEB2	ORPHA:261552
HP:0000174	Abnormal palate morphology	10735	STAG2	OMIM:301022
HP:0000175	Cleft palate	85465	SELENOI	ORPHA:506353
HP:0000175	Cleft palate	85465	SELENOI	OMIM:618768
HP:0000175	Cleft palate	10617	STAMBP	OMIM:614261
HP:0000175	Cleft palate	29925	GMPPB	OMIM:615350
HP:0000175	Cleft palate	8367	H4C5	OMIM:619950
HP:0000175	Cleft palate	91452	ACBD5	OMIM:618863
HP:0000175	Cleft palate	2304	FOXE1	OMIM:241850
HP:0000175	Cleft palate	2304	FOXE1	ORPHA:1226
HP:0000175	Cleft palate	2138	EYA1	OMIM:113650
HP:0000175	Cleft palate	2138	EYA1	ORPHA:107
HP:0000175	Cleft palate	2138	EYA1	ORPHA:52429
HP:0000175	Cleft palate	6495	SIX1	OMIM:113650
HP:0000175	Cleft palate	6495	SIX1	ORPHA:107
HP:0000175	Cleft palate	6495	SIX1	ORPHA:52429
HP:0000175	Cleft palate	4750	NEK1	OMIM:263520
HP:0000175	Cleft palate	4750	NEK1	ORPHA:2751
HP:0000175	Cleft palate	54101	RIPK4	ORPHA:1401
HP:0000175	Cleft palate	54101	RIPK4	OMIM:263650
HP:0000175	Cleft palate	54101	RIPK4	ORPHA:1234
HP:0000175	Cleft palate	81857	MED25	OMIM:616449
HP:0000175	Cleft palate	81857	MED25	ORPHA:464738
HP:0000175	Cleft palate	5830	PEX5	OMIM:214110
HP:0000175	Cleft palate	55209	SETD5	ORPHA:404440
HP:0000175	Cleft palate	3190	HNRNPK	ORPHA:453504
HP:0000175	Cleft palate	3190	HNRNPK	OMIM:616580
HP:0000175	Cleft palate	3190	HNRNPK	ORPHA:352665
HP:0000175	Cleft palate	1836	SLC26A2	ORPHA:56304
HP:0000175	Cleft palate	1836	SLC26A2	ORPHA:628
HP:0000175	Cleft palate	1836	SLC26A2	OMIM:256050
HP:0000175	Cleft palate	1836	SLC26A2	ORPHA:93307
HP:0000175	Cleft palate	1836	SLC26A2	OMIM:222600
HP:0000175	Cleft palate	267010	RNU12	OMIM:603116
HP:0000175	Cleft palate	2073	ERCC5	OMIM:616570
HP:0000175	Cleft palate	4487	MSX1	ORPHA:199306
HP:0000175	Cleft palate	4487	MSX1	OMIM:608874
HP:0000175	Cleft palate	5818	NECTIN1	ORPHA:199306
HP:0000175	Cleft palate	5818	NECTIN1	OMIM:225060
HP:0000175	Cleft palate	1739	DLG1	ORPHA:199306
HP:0000175	Cleft palate	652	BMP4	ORPHA:199306
HP:0000175	Cleft palate	652	BMP4	OMIM:607932
HP:0000175	Cleft palate	652	BMP4	OMIM:600625
HP:0000175	Cleft palate	8626	TP63	ORPHA:199306
HP:0000175	Cleft palate	8626	TP63	OMIM:603543
HP:0000175	Cleft palate	8626	TP63	OMIM:106260
HP:0000175	Cleft palate	8626	TP63	ORPHA:1072
HP:0000175	Cleft palate	8626	TP63	OMIM:129400
HP:0000175	Cleft palate	8626	TP63	ORPHA:69085
HP:0000175	Cleft palate	8626	TP63	OMIM:604292
HP:0000175	Cleft palate	8626	TP63	ORPHA:1896
HP:0000175	Cleft palate	999	CDH1	ORPHA:199306
HP:0000175	Cleft palate	999	CDH1	OMIM:137215
HP:0000175	Cleft palate	5156	PDGFRA	ORPHA:199306
HP:0000175	Cleft palate	3664	IRF6	ORPHA:199306
HP:0000175	Cleft palate	3664	IRF6	ORPHA:888
HP:0000175	Cleft palate	3664	IRF6	OMIM:119500
HP:0000175	Cleft palate	3664	IRF6	OMIM:119300
HP:0000175	Cleft palate	3664	IRF6	OMIM:608864
HP:0000175	Cleft palate	3664	IRF6	ORPHA:1300
HP:0000175	Cleft palate	9411	ARHGAP29	ORPHA:199306
HP:0000175	Cleft palate	1748	DLX4	ORPHA:199306
HP:0000175	Cleft palate	1855	DVL1	OMIM:616331
HP:0000175	Cleft palate	1723	DHODH	OMIM:263750
HP:0000175	Cleft palate	1723	DHODH	ORPHA:246
HP:0000175	Cleft palate	2782	GNB1	ORPHA:488613
HP:0000175	Cleft palate	2782	GNB1	OMIM:616973
HP:0000175	Cleft palate	23322	RPGRIP1L	ORPHA:220497
HP:0000175	Cleft palate	23322	RPGRIP1L	ORPHA:564
HP:0000175	Cleft palate	23322	RPGRIP1L	OMIM:611561
HP:0000175	Cleft palate	4867	NPHP1	ORPHA:220497
HP:0000175	Cleft palate	65062	TMEM237	ORPHA:220497
HP:0000175	Cleft palate	65062	TMEM237	ORPHA:564
HP:0000175	Cleft palate	65062	TMEM237	OMIM:614424
HP:0000175	Cleft palate	84466	MEGF10	OMIM:614399
HP:0000175	Cleft palate	126792	B3GALT6	ORPHA:2725
HP:0000175	Cleft palate	126792	B3GALT6	OMIM:271640
HP:0000175	Cleft palate	126792	B3GALT6	ORPHA:93359
HP:0000175	Cleft palate	126792	B3GALT6	OMIM:615349
HP:0000175	Cleft palate	72	ACTG2	ORPHA:2604
HP:0000175	Cleft palate	54806	AHI1	ORPHA:220493
HP:0000175	Cleft palate	56623	INPP5E	ORPHA:220493
HP:0000175	Cleft palate	153241	CEP120	ORPHA:220493
HP:0000175	Cleft palate	153241	CEP120	OMIM:616300
HP:0000175	Cleft palate	54903	MKS1	ORPHA:220493
HP:0000175	Cleft palate	54903	MKS1	OMIM:249000
HP:0000175	Cleft palate	54903	MKS1	ORPHA:564
HP:0000175	Cleft palate	95681	CEP41	ORPHA:220493
HP:0000175	Cleft palate	10084	PQBP1	ORPHA:93946
HP:0000175	Cleft palate	10084	PQBP1	OMIM:309500
HP:0000175	Cleft palate	6595	SMARCA2	ORPHA:2728
HP:0000175	Cleft palate	55636	CHD7	ORPHA:138
HP:0000175	Cleft palate	55636	CHD7	ORPHA:478
HP:0000175	Cleft palate	55636	CHD7	ORPHA:432
HP:0000175	Cleft palate	55636	CHD7	OMIM:214800
HP:0000175	Cleft palate	55636	CHD7	OMIM:612370
HP:0000175	Cleft palate	9723	SEMA3E	ORPHA:138
HP:0000175	Cleft palate	55650	PIGV	OMIM:239300
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:280200
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:93924
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:478
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:432
HP:0000175	Cleft palate	2260	FGFR1	OMIM:147950
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:3157
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:2117
HP:0000175	Cleft palate	2260	FGFR1	ORPHA:220386
HP:0000175	Cleft palate	2260	FGFR1	OMIM:615465
HP:0000175	Cleft palate	28514	DLL1	ORPHA:280200
HP:0000175	Cleft palate	28514	DLL1	ORPHA:93926
HP:0000175	Cleft palate	28514	DLL1	ORPHA:93924
HP:0000175	Cleft palate	28514	DLL1	ORPHA:93925
HP:0000175	Cleft palate	28514	DLL1	ORPHA:220386
HP:0000175	Cleft palate	2253	FGF8	ORPHA:280200
HP:0000175	Cleft palate	2253	FGF8	ORPHA:93926
HP:0000175	Cleft palate	2253	FGF8	ORPHA:93924
HP:0000175	Cleft palate	2253	FGF8	ORPHA:93925
HP:0000175	Cleft palate	2253	FGF8	ORPHA:478
HP:0000175	Cleft palate	2253	FGF8	ORPHA:432
HP:0000175	Cleft palate	2253	FGF8	ORPHA:220386
HP:0000175	Cleft palate	7050	TGIF1	ORPHA:280200
HP:0000175	Cleft palate	7050	TGIF1	ORPHA:93926
HP:0000175	Cleft palate	7050	TGIF1	ORPHA:93924
HP:0000175	Cleft palate	7050	TGIF1	ORPHA:93925
HP:0000175	Cleft palate	7050	TGIF1	ORPHA:220386
HP:0000175	Cleft palate	4838	NODAL	ORPHA:280200
HP:0000175	Cleft palate	4838	NODAL	ORPHA:93926
HP:0000175	Cleft palate	4838	NODAL	ORPHA:93924
HP:0000175	Cleft palate	4838	NODAL	ORPHA:93925
HP:0000175	Cleft palate	4838	NODAL	ORPHA:220386
HP:0000175	Cleft palate	6469	SHH	ORPHA:280200
HP:0000175	Cleft palate	6469	SHH	ORPHA:93926
HP:0000175	Cleft palate	6469	SHH	ORPHA:93924
HP:0000175	Cleft palate	6469	SHH	ORPHA:93925
HP:0000175	Cleft palate	6469	SHH	OMIM:142945
HP:0000175	Cleft palate	6469	SHH	ORPHA:220386
HP:0000175	Cleft palate	51684	SUFU	ORPHA:280200
HP:0000175	Cleft palate	7546	ZIC2	ORPHA:280200
HP:0000175	Cleft palate	7546	ZIC2	ORPHA:93926
HP:0000175	Cleft palate	7546	ZIC2	ORPHA:93924
HP:0000175	Cleft palate	7546	ZIC2	ORPHA:93925
HP:0000175	Cleft palate	7546	ZIC2	ORPHA:220386
HP:0000175	Cleft palate	2619	GAS1	ORPHA:280200
HP:0000175	Cleft palate	2619	GAS1	ORPHA:93926
HP:0000175	Cleft palate	2619	GAS1	ORPHA:93924
HP:0000175	Cleft palate	2619	GAS1	ORPHA:93925
HP:0000175	Cleft palate	2619	GAS1	ORPHA:220386
HP:0000175	Cleft palate	84976	DISP1	ORPHA:280200
HP:0000175	Cleft palate	84976	DISP1	ORPHA:93926
HP:0000175	Cleft palate	84976	DISP1	ORPHA:93924
HP:0000175	Cleft palate	84976	DISP1	ORPHA:93925
HP:0000175	Cleft palate	84976	DISP1	ORPHA:220386
HP:0000175	Cleft palate	2736	GLI2	ORPHA:280200
HP:0000175	Cleft palate	2736	GLI2	ORPHA:93926
HP:0000175	Cleft palate	2736	GLI2	ORPHA:93924
HP:0000175	Cleft palate	2736	GLI2	ORPHA:93925
HP:0000175	Cleft palate	2736	GLI2	OMIM:610829
HP:0000175	Cleft palate	2736	GLI2	OMIM:615849
HP:0000175	Cleft palate	2736	GLI2	ORPHA:220386
HP:0000175	Cleft palate	8928	FOXH1	ORPHA:280200
HP:0000175	Cleft palate	8928	FOXH1	ORPHA:93926
HP:0000175	Cleft palate	8928	FOXH1	ORPHA:93924
HP:0000175	Cleft palate	8928	FOXH1	ORPHA:93925
HP:0000175	Cleft palate	8928	FOXH1	ORPHA:220386
HP:0000175	Cleft palate	5727	PTCH1	ORPHA:280200
HP:0000175	Cleft palate	5727	PTCH1	ORPHA:93926
HP:0000175	Cleft palate	5727	PTCH1	ORPHA:93924
HP:0000175	Cleft palate	5727	PTCH1	ORPHA:93925
HP:0000175	Cleft palate	5727	PTCH1	OMIM:610828
HP:0000175	Cleft palate	5727	PTCH1	OMIM:109400
HP:0000175	Cleft palate	5727	PTCH1	ORPHA:220386
HP:0000175	Cleft palate	50937	CDON	ORPHA:280200
HP:0000175	Cleft palate	50937	CDON	ORPHA:93926
HP:0000175	Cleft palate	50937	CDON	ORPHA:93924
HP:0000175	Cleft palate	50937	CDON	ORPHA:93925
HP:0000175	Cleft palate	50937	CDON	OMIM:614226
HP:0000175	Cleft palate	50937	CDON	ORPHA:220386
HP:0000175	Cleft palate	57589	RIC1	OMIM:618761
HP:0000175	Cleft palate	10584	COLEC10	OMIM:248340
HP:0000175	Cleft palate	25885	POLR1A	OMIM:616462
HP:0000175	Cleft palate	113189	CHST14	ORPHA:2953
HP:0000175	Cleft palate	113189	CHST14	OMIM:601776
HP:0000175	Cleft palate	29940	DSE	ORPHA:2953
HP:0000175	Cleft palate	7994	KAT6A	ORPHA:457193
HP:0000175	Cleft palate	7994	KAT6A	OMIM:616268
HP:0000175	Cleft palate	5191	PEX7	OMIM:215100
HP:0000175	Cleft palate	3339	HSPG2	ORPHA:1865
HP:0000175	Cleft palate	3339	HSPG2	ORPHA:800
HP:0000175	Cleft palate	2697	GJA1	ORPHA:2710
HP:0000175	Cleft palate	2697	GJA1	OMIM:164200
HP:0000175	Cleft palate	7020	TFAP2A	OMIM:113620
HP:0000175	Cleft palate	1302	COL11A2	OMIM:184840
HP:0000175	Cleft palate	1302	COL11A2	ORPHA:166100
HP:0000175	Cleft palate	1302	COL11A2	ORPHA:2021
HP:0000175	Cleft palate	1302	COL11A2	OMIM:215150
HP:0000175	Cleft palate	1302	COL11A2	ORPHA:1427
HP:0000175	Cleft palate	9401	RECQL4	OMIM:218600
HP:0000175	Cleft palate	9401	RECQL4	OMIM:266280
HP:0000175	Cleft palate	9401	RECQL4	ORPHA:1225
HP:0000175	Cleft palate	9401	RECQL4	ORPHA:221016
HP:0000175	Cleft palate	171023	ASXL1	ORPHA:97297
HP:0000175	Cleft palate	10484	SEC23A	OMIM:607812
HP:0000175	Cleft palate	10815	CPLX1	ORPHA:280
HP:0000175	Cleft palate	10815	CPLX1	OMIM:194190
HP:0000175	Cleft palate	10815	CPLX1	OMIM:617976
HP:0000175	Cleft palate	54872	PIGG	ORPHA:280
HP:0000175	Cleft palate	7469	NELFA	ORPHA:280
HP:0000175	Cleft palate	1487	CTBP1	ORPHA:280
HP:0000175	Cleft palate	1487	CTBP1	OMIM:194190
HP:0000175	Cleft palate	3954	LETM1	ORPHA:280
HP:0000175	Cleft palate	3954	LETM1	OMIM:194190
HP:0000175	Cleft palate	7468	NSD2	ORPHA:280
HP:0000175	Cleft palate	7468	NSD2	OMIM:194190
HP:0000175	Cleft palate	1301	COL11A1	OMIM:228520
HP:0000175	Cleft palate	1301	COL11A1	ORPHA:90654
HP:0000175	Cleft palate	1301	COL11A1	ORPHA:440354
HP:0000175	Cleft palate	1301	COL11A1	OMIM:604841
HP:0000175	Cleft palate	1301	COL11A1	ORPHA:560
HP:0000175	Cleft palate	1301	COL11A1	OMIM:154780
HP:0000175	Cleft palate	1301	COL11A1	ORPHA:2021
HP:0000175	Cleft palate	1301	COL11A1	ORPHA:250984
HP:0000175	Cleft palate	23327	NEDD4L	OMIM:617201
HP:0000175	Cleft palate	80776	B9D2	OMIM:614175
HP:0000175	Cleft palate	80776	B9D2	ORPHA:564
HP:0000175	Cleft palate	56992	KIF15	OMIM:619981
HP:0000175	Cleft palate	7291	TWIST1	OMIM:101400
HP:0000175	Cleft palate	7291	TWIST1	ORPHA:794
HP:0000175	Cleft palate	2263	FGFR2	OMIM:101400
HP:0000175	Cleft palate	2263	FGFR2	OMIM:101200
HP:0000175	Cleft palate	2263	FGFR2	ORPHA:794
HP:0000175	Cleft palate	2263	FGFR2	ORPHA:87
HP:0000175	Cleft palate	2263	FGFR2	ORPHA:93260
HP:0000175	Cleft palate	2263	FGFR2	ORPHA:93259
HP:0000175	Cleft palate	2263	FGFR2	ORPHA:1555
HP:0000175	Cleft palate	6491	STIL	ORPHA:93926
HP:0000175	Cleft palate	6491	STIL	ORPHA:93924
HP:0000175	Cleft palate	6491	STIL	ORPHA:93925
HP:0000175	Cleft palate	6491	STIL	ORPHA:220386
HP:0000175	Cleft palate	26057	ANKRD17	OMIM:619504
HP:0000175	Cleft palate	23007	PLCH1	ORPHA:93925
HP:0000175	Cleft palate	23007	PLCH1	OMIM:619895
HP:0000175	Cleft palate	10716	TBR1	ORPHA:1617
HP:0000175	Cleft palate	2316	FLNA	ORPHA:90650
HP:0000175	Cleft palate	2316	FLNA	ORPHA:90652
HP:0000175	Cleft palate	2316	FLNA	OMIM:304120
HP:0000175	Cleft palate	2316	FLNA	ORPHA:1826
HP:0000175	Cleft palate	2316	FLNA	OMIM:300244
HP:0000175	Cleft palate	2316	FLNA	OMIM:309350
HP:0000175	Cleft palate	2316	FLNA	OMIM:311300
HP:0000175	Cleft palate	2316	FLNA	OMIM:305620
HP:0000175	Cleft palate	2773	GNAI3	OMIM:602483
HP:0000175	Cleft palate	2773	GNAI3	ORPHA:137888
HP:0000175	Cleft palate	3476	IGBP1	ORPHA:52055
HP:0000175	Cleft palate	8241	RBM10	OMIM:311900
HP:0000175	Cleft palate	8241	RBM10	ORPHA:2886
HP:0000175	Cleft palate	57167	SALL4	ORPHA:233
HP:0000175	Cleft palate	9935	MAFB	ORPHA:233
HP:0000175	Cleft palate	1123	CHN1	ORPHA:233
HP:0000175	Cleft palate	57822	GRHL3	OMIM:606713
HP:0000175	Cleft palate	57822	GRHL3	ORPHA:888
HP:0000175	Cleft palate	1947	EFNB1	OMIM:304110
HP:0000175	Cleft palate	79659	DYNC2H1	OMIM:613091
HP:0000175	Cleft palate	11285	B4GALT7	OMIM:130070
HP:0000175	Cleft palate	1349	COX7B	OMIM:309801
HP:0000175	Cleft palate	3052	HCCS	OMIM:309801
HP:0000175	Cleft palate	54539	NDUFB11	OMIM:309801
HP:0000175	Cleft palate	23126	POGZ	OMIM:616364
HP:0000175	Cleft palate	126695	KDF1	OMIM:617337
HP:0000175	Cleft palate	1909	EDNRA	OMIM:616367
HP:0000175	Cleft palate	5979	RET	ORPHA:1848
HP:0000175	Cleft palate	8516	ITGA8	ORPHA:1848
HP:0000175	Cleft palate	26281	FGF20	ORPHA:1848
HP:0000175	Cleft palate	2674	GFRA1	ORPHA:1848
HP:0000175	Cleft palate	7484	WNT9B	ORPHA:1848
HP:0000175	Cleft palate	80000	GREB1L	ORPHA:1848
HP:0000175	Cleft palate	5925	RB1	OMIM:180200
HP:0000175	Cleft palate	147912	SIX5	ORPHA:107
HP:0000175	Cleft palate	54928	BPNT2	OMIM:614078
HP:0000175	Cleft palate	9968	MED12	OMIM:305450
HP:0000175	Cleft palate	57492	ARID1B	ORPHA:251056
HP:0000175	Cleft palate	57492	ARID1B	OMIM:135900
HP:0000175	Cleft palate	57688	ZSWIM6	OMIM:603671
HP:0000175	Cleft palate	1749	DLX5	OMIM:183600
HP:0000175	Cleft palate	11107	PRDM5	ORPHA:90354
HP:0000175	Cleft palate	84627	ZNF469	ORPHA:90354
HP:0000175	Cleft palate	2556	GABRA3	OMIM:301091
HP:0000175	Cleft palate	23314	SATB2	ORPHA:576283
HP:0000175	Cleft palate	23314	SATB2	ORPHA:251028
HP:0000175	Cleft palate	23314	SATB2	ORPHA:251019
HP:0000175	Cleft palate	23314	SATB2	OMIM:612313
HP:0000175	Cleft palate	57724	EPG5	OMIM:242840
HP:0000175	Cleft palate	23556	PIGN	OMIM:614080
HP:0000175	Cleft palate	23556	PIGN	ORPHA:2059
HP:0000175	Cleft palate	4621	MYH3	OMIM:178110
HP:0000175	Cleft palate	4621	MYH3	OMIM:618469
HP:0000175	Cleft palate	4621	MYH3	ORPHA:2990
HP:0000175	Cleft palate	7030	TFE3	OMIM:301066
HP:0000175	Cleft palate	2239	GPC4	ORPHA:373
HP:0000175	Cleft palate	2239	GPC4	OMIM:312870
HP:0000175	Cleft palate	2719	GPC3	ORPHA:373
HP:0000175	Cleft palate	2719	GPC3	OMIM:312870
HP:0000175	Cleft palate	2706	GJB2	ORPHA:494
HP:0000175	Cleft palate	55120	FANCL	OMIM:614083
HP:0000175	Cleft palate	55120	FANCL	ORPHA:84
HP:0000175	Cleft palate	9319	TRIP13	OMIM:617598
HP:0000175	Cleft palate	9319	TRIP13	ORPHA:1052
HP:0000175	Cleft palate	23483	TGDS	OMIM:616145
HP:0000175	Cleft palate	23483	TGDS	ORPHA:1388
HP:0000175	Cleft palate	25836	NIPBL	OMIM:122470
HP:0000175	Cleft palate	25836	NIPBL	ORPHA:199
HP:0000175	Cleft palate	9496	TBX4	OMIM:147891
HP:0000175	Cleft palate	6885	MAP3K7	ORPHA:1826
HP:0000175	Cleft palate	6885	MAP3K7	OMIM:617137
HP:0000175	Cleft palate	2303	FOXC2	ORPHA:33001
HP:0000175	Cleft palate	2303	FOXC2	OMIM:153400
HP:0000175	Cleft palate	2317	FLNB	OMIM:272460
HP:0000175	Cleft palate	2317	FLNB	ORPHA:503
HP:0000175	Cleft palate	2317	FLNB	ORPHA:1190
HP:0000175	Cleft palate	2317	FLNB	OMIM:108721
HP:0000175	Cleft palate	2317	FLNB	OMIM:108720
HP:0000175	Cleft palate	2317	FLNB	OMIM:150250
HP:0000175	Cleft palate	54361	WNT4	OMIM:611812
HP:0000175	Cleft palate	54361	WNT4	ORPHA:247768
HP:0000175	Cleft palate	10262	SF3B4	ORPHA:245
HP:0000175	Cleft palate	10262	SF3B4	OMIM:154400
HP:0000175	Cleft palate	57539	WDR35	OMIM:614091
HP:0000175	Cleft palate	57539	WDR35	OMIM:613610
HP:0000175	Cleft palate	257	ALX3	ORPHA:391474
HP:0000175	Cleft palate	25970	SH2B1	ORPHA:261197
HP:0000175	Cleft palate	1387	CREBBP	OMIM:618332
HP:0000175	Cleft palate	1387	CREBBP	OMIM:180849
HP:0000175	Cleft palate	8295	TRRAP	OMIM:618454
HP:0000175	Cleft palate	26173	INTS1	OMIM:618571
HP:0000175	Cleft palate	9427	ECEL1	OMIM:615065
HP:0000175	Cleft palate	9533	POLR1C	OMIM:248390
HP:0000175	Cleft palate	9533	POLR1C	ORPHA:861
HP:0000175	Cleft palate	29968	PSAT1	OMIM:616038
HP:0000175	Cleft palate	4212	MEIS2	ORPHA:261190
HP:0000175	Cleft palate	4212	MEIS2	OMIM:600987
HP:0000175	Cleft palate	10801	SEPTIN9	ORPHA:2901
HP:0000175	Cleft palate	10801	SEPTIN9	OMIM:162100
HP:0000175	Cleft palate	7046	TGFBR1	OMIM:609192
HP:0000175	Cleft palate	6792	CDKL5	ORPHA:1934
HP:0000175	Cleft palate	3736	KCNA1	ORPHA:1934
HP:0000175	Cleft palate	9091	PIGQ	ORPHA:1934
HP:0000175	Cleft palate	2775	GNAO1	ORPHA:1934
HP:0000175	Cleft palate	81603	TRIM8	ORPHA:1934
HP:0000175	Cleft palate	2902	GRIN1	ORPHA:1934
HP:0000175	Cleft palate	79751	SLC25A22	ORPHA:1934
HP:0000175	Cleft palate	150094	SIK1	ORPHA:1934
HP:0000175	Cleft palate	8573	CASK	ORPHA:1934
HP:0000175	Cleft palate	23312	DMXL2	ORPHA:1934
HP:0000175	Cleft palate	2917	GRM7	ORPHA:1934
HP:0000175	Cleft palate	170302	ARX	ORPHA:1934
HP:0000175	Cleft palate	11284	PNKP	ORPHA:1934
HP:0000175	Cleft palate	6326	SCN2A	ORPHA:1934
HP:0000175	Cleft palate	51227	PIGP	ORPHA:1934
HP:0000175	Cleft palate	6324	SCN1B	ORPHA:1934
HP:0000175	Cleft palate	4761	NEUROD2	ORPHA:1934
HP:0000175	Cleft palate	1801	DPH1	ORPHA:459061
HP:0000175	Cleft palate	389827	MYMK	OMIM:254940
HP:0000175	Cleft palate	389827	MYMK	ORPHA:1358
HP:0000175	Cleft palate	10371	SEMA3A	ORPHA:478
HP:0000175	Cleft palate	81848	SPRY4	ORPHA:478
HP:0000175	Cleft palate	81848	SPRY4	ORPHA:432
HP:0000175	Cleft palate	23767	FLRT3	ORPHA:478
HP:0000175	Cleft palate	128674	PROKR2	ORPHA:478
HP:0000175	Cleft palate	128674	PROKR2	ORPHA:432
HP:0000175	Cleft palate	128674	PROKR2	ORPHA:3157
HP:0000175	Cleft palate	128674	PROKR2	OMIM:244200
HP:0000175	Cleft palate	79625	NDNF	ORPHA:478
HP:0000175	Cleft palate	389549	FEZF1	ORPHA:478
HP:0000175	Cleft palate	1630	DCC	ORPHA:478
HP:0000175	Cleft palate	3730	ANOS1	ORPHA:478
HP:0000175	Cleft palate	54756	IL17RD	ORPHA:478
HP:0000175	Cleft palate	6663	SOX10	ORPHA:478
HP:0000175	Cleft palate	285025	CCDC141	ORPHA:478
HP:0000175	Cleft palate	60675	PROK2	ORPHA:478
HP:0000175	Cleft palate	60675	PROK2	ORPHA:432
HP:0000175	Cleft palate	1848	DUSP6	ORPHA:478
HP:0000175	Cleft palate	1848	DUSP6	ORPHA:432
HP:0000175	Cleft palate	6870	TACR3	ORPHA:478
HP:0000175	Cleft palate	6870	TACR3	ORPHA:432
HP:0000175	Cleft palate	55717	WDR11	ORPHA:478
HP:0000175	Cleft palate	55717	WDR11	ORPHA:432
HP:0000175	Cleft palate	9394	HS6ST1	ORPHA:478
HP:0000175	Cleft palate	9394	HS6ST1	ORPHA:432
HP:0000175	Cleft palate	9394	HS6ST1	OMIM:614880
HP:0000175	Cleft palate	8820	HESX1	ORPHA:478
HP:0000175	Cleft palate	8820	HESX1	ORPHA:3157
HP:0000175	Cleft palate	8822	FGF17	ORPHA:478
HP:0000175	Cleft palate	8822	FGF17	ORPHA:432
HP:0000175	Cleft palate	2261	FGFR3	ORPHA:794
HP:0000175	Cleft palate	2737	GLI3	ORPHA:672
HP:0000175	Cleft palate	2737	GLI3	OMIM:146510
HP:0000175	Cleft palate	2737	GLI3	ORPHA:93322
HP:0000175	Cleft palate	4088	SMAD3	ORPHA:284984
HP:0000175	Cleft palate	4088	SMAD3	OMIM:613795
HP:0000175	Cleft palate	26012	NSMF	ORPHA:432
HP:0000175	Cleft palate	26012	NSMF	OMIM:614838
HP:0000175	Cleft palate	2796	GNRH1	ORPHA:432
HP:0000175	Cleft palate	2798	GNRHR	ORPHA:432
HP:0000175	Cleft palate	84634	KISS1R	ORPHA:432
HP:0000175	Cleft palate	6866	TAC3	ORPHA:432
HP:0000175	Cleft palate	3814	KISS1	ORPHA:432
HP:0000175	Cleft palate	6909	TBX2	OMIM:618223
HP:0000175	Cleft palate	23592	LEMD3	ORPHA:166119
HP:0000175	Cleft palate	5396	PRRX1	OMIM:202650
HP:0000175	Cleft palate	57122	NUP107	OMIM:618348
HP:0000175	Cleft palate	57122	NUP107	OMIM:616730
HP:0000175	Cleft palate	4703	NEB	OMIM:256030
HP:0000175	Cleft palate	23384	SPECC1L	OMIM:600251
HP:0000175	Cleft palate	55869	HDAC8	OMIM:300882
HP:0000175	Cleft palate	55869	HDAC8	ORPHA:199
HP:0000175	Cleft palate	23114	NFASC	OMIM:618356
HP:0000175	Cleft palate	26128	KIFBP	ORPHA:66629
HP:0000175	Cleft palate	9126	SMC3	OMIM:610759
HP:0000175	Cleft palate	9126	SMC3	ORPHA:199
HP:0000175	Cleft palate	79068	FTO	OMIM:612938
HP:0000175	Cleft palate	56975	FAM20C	OMIM:259775
HP:0000175	Cleft palate	5980	REV3L	ORPHA:570
HP:0000175	Cleft palate	23129	PLXND1	ORPHA:570
HP:0000175	Cleft palate	84068	SLC10A7	OMIM:618363
HP:0000175	Cleft palate	50619	DEF6	OMIM:619573
HP:0000175	Cleft palate	340665	CYP26C1	ORPHA:398189
HP:0000175	Cleft palate	50945	TBX22	OMIM:302905
HP:0000175	Cleft palate	50945	TBX22	ORPHA:921
HP:0000175	Cleft palate	50945	TBX22	OMIM:303400
HP:0000175	Cleft palate	1312	COMT	ORPHA:567
HP:0000175	Cleft palate	221037	JMJD1C	ORPHA:567
HP:0000175	Cleft palate	2812	GP1BB	ORPHA:567
HP:0000175	Cleft palate	6239	RREB1	ORPHA:567
HP:0000175	Cleft palate	7290	HIRA	ORPHA:567
HP:0000175	Cleft palate	9632	SEC24C	ORPHA:567
HP:0000175	Cleft palate	7353	UFD1	ORPHA:567
HP:0000175	Cleft palate	421	ARVCF	ORPHA:567
HP:0000175	Cleft palate	84314	TMEM107	ORPHA:564
HP:0000175	Cleft palate	79867	TCTN2	ORPHA:564
HP:0000175	Cleft palate	79867	TCTN2	OMIM:613885
HP:0000175	Cleft palate	79600	TCTN1	ORPHA:564
HP:0000175	Cleft palate	57096	RPGRIP1	ORPHA:564
HP:0000175	Cleft palate	79848	CSPP1	ORPHA:564
HP:0000175	Cleft palate	80184	CEP290	ORPHA:564
HP:0000175	Cleft palate	80184	CEP290	OMIM:611134
HP:0000175	Cleft palate	80184	CEP290	OMIM:610188
HP:0000175	Cleft palate	51259	TMEM216	ORPHA:564
HP:0000175	Cleft palate	51259	TMEM216	OMIM:603194
HP:0000175	Cleft palate	51259	TMEM216	ORPHA:2754
HP:0000175	Cleft palate	57545	CC2D2A	ORPHA:564
HP:0000175	Cleft palate	57545	CC2D2A	OMIM:612284
HP:0000175	Cleft palate	79583	TMEM231	ORPHA:564
HP:0000175	Cleft palate	91147	TMEM67	ORPHA:564
HP:0000175	Cleft palate	91147	TMEM67	OMIM:607361
HP:0000175	Cleft palate	79770	TXNDC15	ORPHA:564
HP:0000175	Cleft palate	27077	B9D1	ORPHA:564
HP:0000175	Cleft palate	372	ARCN1	OMIM:617164
HP:0000175	Cleft palate	1822	ATN1	OMIM:618494
HP:0000175	Cleft palate	7403	KDM6A	OMIM:300867
HP:0000175	Cleft palate	7403	KDM6A	OMIM:147920
HP:0000175	Cleft palate	7403	KDM6A	ORPHA:2322
HP:0000175	Cleft palate	8883	NAE1	OMIM:620210
HP:0000175	Cleft palate	9343	EFTUD2	OMIM:610536
HP:0000175	Cleft palate	9343	EFTUD2	ORPHA:79113
HP:0000175	Cleft palate	4927	NUP88	ORPHA:994
HP:0000175	Cleft palate	7846	TUBA1A	ORPHA:994
HP:0000175	Cleft palate	4654	MYOD1	ORPHA:994
HP:0000175	Cleft palate	4654	MYOD1	OMIM:618975
HP:0000175	Cleft palate	4593	MUSK	ORPHA:994
HP:0000175	Cleft palate	4593	MUSK	OMIM:208150
HP:0000175	Cleft palate	5913	RAPSN	ORPHA:994
HP:0000175	Cleft palate	5913	RAPSN	OMIM:618388
HP:0000175	Cleft palate	6572	SLC18A3	ORPHA:994
HP:0000175	Cleft palate	285489	DOK7	ORPHA:994
HP:0000175	Cleft palate	6611	SMS	ORPHA:3063
HP:0000175	Cleft palate	6611	SMS	OMIM:309583
HP:0000175	Cleft palate	65250	CPLANE1	OMIM:277170
HP:0000175	Cleft palate	65250	CPLANE1	ORPHA:2754
HP:0000175	Cleft palate	29895	MYL11	OMIM:619110
HP:0000175	Cleft palate	340419	RSPO2	OMIM:618021
HP:0000175	Cleft palate	145173	B3GLCT	OMIM:261540
HP:0000175	Cleft palate	145173	B3GLCT	ORPHA:709
HP:0000175	Cleft palate	5530	PPP3CA	OMIM:618265
HP:0000175	Cleft palate	26005	C2CD3	ORPHA:434179
HP:0000175	Cleft palate	26005	C2CD3	OMIM:615948
HP:0000175	Cleft palate	2033	EP300	OMIM:180849
HP:0000175	Cleft palate	57514	ARHGAP31	OMIM:100300
HP:0000175	Cleft palate	2254	FGF9	OMIM:612961
HP:0000175	Cleft palate	6608	SMO	OMIM:241800
HP:0000175	Cleft palate	10413	YAP1	OMIM:120433
HP:0000175	Cleft palate	246329	STAC3	ORPHA:168572
HP:0000175	Cleft palate	246329	STAC3	OMIM:255995
HP:0000175	Cleft palate	526	ATP6V1B2	ORPHA:79500
HP:0000175	Cleft palate	526	ATP6V1B2	ORPHA:3473
HP:0000175	Cleft palate	57465	TBC1D24	ORPHA:79500
HP:0000175	Cleft palate	57465	TBC1D24	OMIM:220500
HP:0000175	Cleft palate	10653	SPINT2	OMIM:270420
HP:0000175	Cleft palate	388015	RTL1	ORPHA:96184
HP:0000175	Cleft palate	8788	DLK1	ORPHA:96184
HP:0000175	Cleft palate	55384	MEG3	ORPHA:96184
HP:0000175	Cleft palate	84172	POLR1B	ORPHA:861
HP:0000175	Cleft palate	84172	POLR1B	OMIM:618939
HP:0000175	Cleft palate	51082	POLR1D	ORPHA:861
HP:0000175	Cleft palate	51082	POLR1D	OMIM:613717
HP:0000175	Cleft palate	6949	TCOF1	ORPHA:861
HP:0000175	Cleft palate	6949	TCOF1	OMIM:154500
HP:0000175	Cleft palate	51360	MBTPS2	OMIM:308205
HP:0000175	Cleft palate	51360	MBTPS2	ORPHA:85284
HP:0000175	Cleft palate	2571	GAD1	OMIM:619124
HP:0000175	Cleft palate	203068	TUBB	OMIM:156610
HP:0000175	Cleft palate	203068	TUBB	ORPHA:2505
HP:0000175	Cleft palate	8239	USP9X	OMIM:300968
HP:0000175	Cleft palate	8239	USP9X	ORPHA:480880
HP:0000175	Cleft palate	55640	FLVCR2	OMIM:225790
HP:0000175	Cleft palate	90416	CCDC32	OMIM:619123
HP:0000175	Cleft palate	1654	DDX3X	OMIM:300958
HP:0000175	Cleft palate	64093	SMOC1	OMIM:206920
HP:0000175	Cleft palate	64093	SMOC1	ORPHA:1106
HP:0000175	Cleft palate	23169	SLC35D1	OMIM:269250
HP:0000175	Cleft palate	23169	SLC35D1	ORPHA:3144
HP:0000175	Cleft palate	22995	CEP152	OMIM:613823
HP:0000175	Cleft palate	4488	MSX2	OMIM:168500
HP:0000175	Cleft palate	4488	MSX2	ORPHA:60015
HP:0000175	Cleft palate	4222	MEOX1	OMIM:214300
HP:0000175	Cleft palate	4222	MEOX1	ORPHA:2345
HP:0000175	Cleft palate	5077	PAX3	ORPHA:894
HP:0000175	Cleft palate	80267	EDEM3	OMIM:619493
HP:0000175	Cleft palate	1984	EIF5A	OMIM:619376
HP:0000175	Cleft palate	9487	PIGL	OMIM:280000
HP:0000175	Cleft palate	9487	PIGL	ORPHA:3474
HP:0000175	Cleft palate	168667	BMPER	ORPHA:66637
HP:0000175	Cleft palate	168667	BMPER	OMIM:608022
HP:0000175	Cleft palate	5236	PGM1	OMIM:614921
HP:0000175	Cleft palate	284058	KANSL1	OMIM:610443
HP:0000175	Cleft palate	4683	NBN	ORPHA:647
HP:0000175	Cleft palate	4683	NBN	OMIM:251260
HP:0000175	Cleft palate	124454	EARS2	OMIM:614924
HP:0000175	Cleft palate	64131	XYLT1	ORPHA:370930
HP:0000175	Cleft palate	64131	XYLT1	OMIM:615777
HP:0000175	Cleft palate	3239	HOXD13	ORPHA:887
HP:0000175	Cleft palate	9897	WASHC5	ORPHA:7
HP:0000175	Cleft palate	9897	WASHC5	OMIM:220210
HP:0000175	Cleft palate	28952	CCDC22	ORPHA:7
HP:0000175	Cleft palate	6913	TBX15	OMIM:260660
HP:0000175	Cleft palate	90121	TSR2	OMIM:300946
HP:0000175	Cleft palate	6657	SOX2	ORPHA:3157
HP:0000175	Cleft palate	6658	SOX3	ORPHA:3157
HP:0000175	Cleft palate	9915	ARNT2	ORPHA:3157
HP:0000175	Cleft palate	5015	OTX2	ORPHA:3157
HP:0000175	Cleft palate	5015	OTX2	OMIM:610125
HP:0000175	Cleft palate	8085	KMT2D	OMIM:147920
HP:0000175	Cleft palate	8085	KMT2D	ORPHA:2322
HP:0000175	Cleft palate	10682	EBP	ORPHA:401973
HP:0000175	Cleft palate	2294	FOXF1	OMIM:265380
HP:0000175	Cleft palate	6399	TRAPPC2	ORPHA:93284
HP:0000175	Cleft palate	1832	DSP	ORPHA:158687
HP:0000175	Cleft palate	3728	JUP	ORPHA:158687
HP:0000175	Cleft palate	347734	SLC35B2	OMIM:620269
HP:0000175	Cleft palate	3636	INPPL1	ORPHA:3144
HP:0000175	Cleft palate	10992	SF3B2	OMIM:164210
HP:0000175	Cleft palate	118987	PDZD8	OMIM:620021
HP:0000175	Cleft palate	80144	FRAS1	OMIM:219000
HP:0000175	Cleft palate	4784	NFIX	ORPHA:447980
HP:0000175	Cleft palate	4281	MID1	OMIM:300000
HP:0000175	Cleft palate	4281	MID1	ORPHA:2745
HP:0000175	Cleft palate	80232	WDR26	ORPHA:513456
HP:0000175	Cleft palate	80232	WDR26	OMIM:617616
HP:0000175	Cleft palate	613	BCR	ORPHA:261330
HP:0000175	Cleft palate	1399	CRKL	ORPHA:261330
HP:0000175	Cleft palate	5594	MAPK1	ORPHA:261330
HP:0000175	Cleft palate	2314	FLII	ORPHA:819
HP:0000175	Cleft palate	23096	IQSEC2	ORPHA:819
HP:0000175	Cleft palate	10743	RAI1	ORPHA:819
HP:0000175	Cleft palate	10522	DEAF1	ORPHA:819
HP:0000175	Cleft palate	1717	DHCR7	ORPHA:818
HP:0000175	Cleft palate	1717	DHCR7	OMIM:270400
HP:0000175	Cleft palate	9382	COG1	OMIM:611209
HP:0000175	Cleft palate	1146	CHRNG	OMIM:265000
HP:0000175	Cleft palate	1146	CHRNG	OMIM:253290
HP:0000175	Cleft palate	1146	CHRNG	ORPHA:2990
HP:0000175	Cleft palate	80204	FBXO11	OMIM:618089
HP:0000175	Cleft palate	92579	G6PC3	OMIM:612541
HP:0000175	Cleft palate	8289	ARID1A	OMIM:614607
HP:0000175	Cleft palate	672	BRCA1	ORPHA:84
HP:0000175	Cleft palate	10459	MAD2L2	ORPHA:84
HP:0000175	Cleft palate	7516	XRCC2	ORPHA:84
HP:0000175	Cleft palate	29089	UBE2T	ORPHA:84
HP:0000175	Cleft palate	675	BRCA2	ORPHA:84
HP:0000175	Cleft palate	2177	FANCD2	ORPHA:84
HP:0000175	Cleft palate	2175	FANCA	ORPHA:84
HP:0000175	Cleft palate	2187	FANCB	ORPHA:84
HP:0000175	Cleft palate	2176	FANCC	ORPHA:84
HP:0000175	Cleft palate	2178	FANCE	ORPHA:84
HP:0000175	Cleft palate	2188	FANCF	ORPHA:84
HP:0000175	Cleft palate	2189	FANCG	ORPHA:84
HP:0000175	Cleft palate	5888	RAD51	ORPHA:84
HP:0000175	Cleft palate	5889	RAD51C	ORPHA:84
HP:0000175	Cleft palate	55159	RFWD3	ORPHA:84
HP:0000175	Cleft palate	83990	BRIP1	ORPHA:84
HP:0000175	Cleft palate	57697	FANCM	ORPHA:84
HP:0000175	Cleft palate	79728	PALB2	ORPHA:84
HP:0000175	Cleft palate	84464	SLX4	ORPHA:84
HP:0000175	Cleft palate	2072	ERCC4	ORPHA:84
HP:0000175	Cleft palate	55215	FANCI	ORPHA:84
HP:0000175	Cleft palate	6598	SMARCB1	OMIM:614608
HP:0000175	Cleft palate	6597	SMARCA4	OMIM:614609
HP:0000175	Cleft palate	222663	SCUBE3	OMIM:619184
HP:0000175	Cleft palate	860	RUNX2	OMIM:119600
HP:0000175	Cleft palate	860	RUNX2	ORPHA:1452
HP:0000175	Cleft palate	9184	BUB3	ORPHA:1052
HP:0000175	Cleft palate	699	BUB1	ORPHA:1052
HP:0000175	Cleft palate	9702	CEP57	ORPHA:1052
HP:0000175	Cleft palate	701	BUB1B	ORPHA:1052
HP:0000175	Cleft palate	701	BUB1B	OMIM:257300
HP:0000175	Cleft palate	60	ACTB	OMIM:607371
HP:0000175	Cleft palate	1906	EDN1	ORPHA:137888
HP:0000175	Cleft palate	5332	PLCB4	ORPHA:137888
HP:0000175	Cleft palate	5332	PLCB4	OMIM:614669
HP:0000175	Cleft palate	3756	KCNH1	ORPHA:3473
HP:0000175	Cleft palate	3782	KCNN3	ORPHA:3473
HP:0000175	Cleft palate	53834	FGFRL1	OMIM:194190
HP:0000175	Cleft palate	4853	NOTCH2	ORPHA:955
HP:0000175	Cleft palate	26227	PHGDH	OMIM:256520
HP:0000175	Cleft palate	6234	RPS28	OMIM:606164
HP:0000175	Cleft palate	2615	LRRC32	OMIM:619074
HP:0000175	Cleft palate	392255	GDF6	OMIM:118100
HP:0000175	Cleft palate	392255	GDF6	ORPHA:2345
HP:0000175	Cleft palate	6135	RPL11	OMIM:612562
HP:0000175	Cleft palate	6125	RPL5	OMIM:612561
HP:0000175	Cleft palate	4519	MT-CYB	ORPHA:137675
HP:0000175	Cleft palate	5828	PEX2	OMIM:614866
HP:0000175	Cleft palate	84720	PIGO	OMIM:614749
HP:0000175	Cleft palate	54499	TMCO1	OMIM:213980
HP:0000175	Cleft palate	54499	TMCO1	ORPHA:1394
HP:0000175	Cleft palate	93210	PGAP3	OMIM:615716
HP:0000175	Cleft palate	157570	ESCO2	ORPHA:3103
HP:0000175	Cleft palate	157570	ESCO2	OMIM:268300
HP:0000175	Cleft palate	10907	TXNL4A	OMIM:608572
HP:0000175	Cleft palate	78989	COLEC11	OMIM:265050
HP:0000175	Cleft palate	4094	MAF	ORPHA:1272
HP:0000175	Cleft palate	6628	SNRPB	ORPHA:1393
HP:0000175	Cleft palate	6628	SNRPB	OMIM:117650
HP:0000175	Cleft palate	3481	IGF2	ORPHA:397590
HP:0000175	Cleft palate	1028	CDKN1C	ORPHA:397590
HP:0000175	Cleft palate	5324	PLAG1	ORPHA:397590
HP:0000175	Cleft palate	8091	HMGA2	ORPHA:397590
HP:0000175	Cleft palate	8481	OFD1	OMIM:311200
HP:0000175	Cleft palate	8481	OFD1	ORPHA:2750
HP:0000175	Cleft palate	8481	OFD1	ORPHA:2754
HP:0000175	Cleft palate	6231	RPS26	OMIM:613309
HP:0000175	Cleft palate	2535	FZD2	OMIM:164745
HP:0000175	Cleft palate	60529	ALX4	ORPHA:60015
HP:0000175	Cleft palate	10324	KLHL41	OMIM:615731
HP:0000175	Cleft palate	2625	GATA3	ORPHA:2237
HP:0000175	Cleft palate	7048	TGFBR2	OMIM:610168
HP:0000175	Cleft palate	11023	VAX1	OMIM:614402
HP:0000175	Cleft palate	8195	MKKS	ORPHA:2473
HP:0000175	Cleft palate	9939	RBM8A	ORPHA:3320
HP:0000175	Cleft palate	9939	RBM8A	OMIM:274000
HP:0000175	Cleft palate	22856	CHSY1	OMIM:605282
HP:0000175	Cleft palate	5781	PTPN11	OMIM:151100
HP:0000175	Cleft palate	5781	PTPN11	OMIM:163950
HP:0000175	Cleft palate	9775	EIF4A3	OMIM:268305
HP:0000175	Cleft palate	9573	GDF3	ORPHA:2345
HP:0000175	Cleft palate	27152	INTU	OMIM:617925
HP:0000175	Cleft palate	1297	COL9A1	ORPHA:250984
HP:0000175	Cleft palate	1298	COL9A2	ORPHA:250984
HP:0000175	Cleft palate	1299	COL9A3	ORPHA:250984
HP:0000175	Cleft palate	84695	LOXL3	ORPHA:250984
HP:0000175	Cleft palate	2245	FGD1	ORPHA:915
HP:0000175	Cleft palate	2245	FGD1	OMIM:305400
HP:0000175	Cleft palate	10664	CTCF	OMIM:615502
HP:0000175	Cleft palate	10664	CTCF	ORPHA:363611
HP:0000175	Cleft palate	1144	CHRND	OMIM:253290
HP:0000175	Cleft palate	1134	CHRNA1	OMIM:253290
HP:0000175	Cleft palate	9894	TELO2	OMIM:616954
HP:0000175	Cleft palate	9894	TELO2	ORPHA:488642
HP:0000175	Cleft palate	196528	ARID2	OMIM:617808
HP:0000175	Cleft palate	3720	JARID2	OMIM:620098
HP:0000175	Cleft palate	55906	ZC4H2	OMIM:301041
HP:0000175	Cleft palate	8243	SMC1A	OMIM:301044
HP:0000175	Cleft palate	8243	SMC1A	ORPHA:199
HP:0000175	Cleft palate	8243	SMC1A	ORPHA:220386
HP:0000175	Cleft palate	5648	MASP1	OMIM:257920
HP:0000175	Cleft palate	29123	ANKRD11	ORPHA:2332
HP:0000175	Cleft palate	8092	ALX1	OMIM:613456
HP:0000175	Cleft palate	8092	ALX1	ORPHA:306542
HP:0000175	Cleft palate	4010	LMX1B	OMIM:161200
HP:0000175	Cleft palate	91179	SCARF2	OMIM:600920
HP:0000175	Cleft palate	4854	NOTCH3	OMIM:130720
HP:0000175	Cleft palate	83479	DDX59	OMIM:174300
HP:0000175	Cleft palate	55784	MCTP2	ORPHA:1596
HP:0000175	Cleft palate	5915	RARB	OMIM:615524
HP:0000175	Cleft palate	10982	MAPRE2	OMIM:616734
HP:0000175	Cleft palate	10982	MAPRE2	ORPHA:2505
HP:0000175	Cleft palate	2122	MECOM	OMIM:616738
HP:0000175	Cleft palate	101929726	MYMX	ORPHA:1358
HP:0000175	Cleft palate	6774	STAT3	ORPHA:2314
HP:0000175	Cleft palate	134701	RIPPLY2	ORPHA:2311
HP:0000175	Cleft palate	10683	DLL3	ORPHA:2311
HP:0000175	Cleft palate	3955	LFNG	ORPHA:2311
HP:0000175	Cleft palate	84667	HES7	ORPHA:2311
HP:0000175	Cleft palate	145873	MESP2	ORPHA:2311
HP:0000175	Cleft palate	27315	PGAP2	OMIM:614207
HP:0000175	Cleft palate	1063	CENPF	OMIM:243605
HP:0000175	Cleft palate	3759	KCNJ2	OMIM:170390
HP:0000175	Cleft palate	545	ATR	OMIM:210600
HP:0000175	Cleft palate	23395	LARS2	OMIM:615300
HP:0000175	Cleft palate	10046	MAMLD1	ORPHA:95706
HP:0000175	Cleft palate	367	AR	ORPHA:95706
HP:0000175	Cleft palate	6638	SNRPN	ORPHA:177907
HP:0000175	Cleft palate	29980	DONSON	OMIM:251230
HP:0000175	Cleft palate	23476	BRD4	ORPHA:199
HP:0000175	Cleft palate	64840	PORCN	OMIM:305600
HP:0000175	Cleft palate	23233	EXOC6B	ORPHA:93359
HP:0000175	Cleft palate	3199	HOXA2	OMIM:612290
HP:0000175	Cleft palate	1857	DVL3	OMIM:616894
HP:0000175	Cleft palate	6911	TBX6	ORPHA:1797
HP:0000175	Cleft palate	202018	TAPT1	OMIM:616897
HP:0000175	Cleft palate	23247	KATNIP	OMIM:616784
HP:0000175	Cleft palate	9786	KIAA0586	OMIM:616546
HP:0000175	Cleft palate	59341	TRPV4	ORPHA:2635
HP:0000175	Cleft palate	7476	WNT7A	ORPHA:2879
HP:0000175	Cleft palate	55788	LMBRD1	ORPHA:79284
HP:0000175	Cleft palate	5430	POLR2A	OMIM:618603
HP:0000175	Cleft palate	10225	CD96	ORPHA:1308
HP:0000175	Cleft palate	7473	WNT3	OMIM:273395
HP:0000175	Cleft palate	6223	RPS19	OMIM:105650
HP:0000175	Cleft palate	10210	TOPORS	ORPHA:2754
HP:0000175	Cleft palate	9851	KIAA0753	ORPHA:2754
HP:0000175	Cleft palate	5147	PDE6D	ORPHA:2754
HP:0000175	Cleft palate	317662	FAM149B1	ORPHA:2754
HP:0000175	Cleft palate	23133	PHF8	OMIM:300263
HP:0000175	Cleft palate	9130	FAM50A	OMIM:300261
HP:0000175	Cleft palate	9469	CHST3	OMIM:245600
HP:0000175	Cleft palate	26229	B3GAT3	OMIM:245600
HP:0000175	Cleft palate	1968	EIF2S3	OMIM:300148
HP:0000175	Cleft palate	7043	TGFB3	OMIM:615582
HP:0000175	Cleft palate	22827	PUF60	OMIM:615583
HP:0000175	Cleft palate	9949	AMMECR1	OMIM:300990
HP:0000175	Cleft palate	9653	HS2ST1	OMIM:619194
HP:0000175	Cleft palate	3981	LIG4	ORPHA:235
HP:0000175	Cleft palate	54888	NSUN2	ORPHA:235
HP:0000175	Cleft palate	10735	STAG2	OMIM:301043
HP:0000175	Cleft palate	23347	SMCHD1	ORPHA:2250
HP:0000175	Cleft palate	6477	SIAH1	OMIM:619314
HP:0000175	Cleft palate	63895	PIEZO2	OMIM:114300
HP:0000175	Cleft palate	63895	PIEZO2	ORPHA:2461
HP:0000175	Cleft palate	9791	PTDSS1	ORPHA:2658
HP:0000175	Cleft palate	6228	RPS23	OMIM:617412
HP:0000175	Cleft palate	5885	RAD21	OMIM:614701
HP:0000175	Cleft palate	673	BRAF	OMIM:115150
HP:0000175	Cleft palate	673	BRAF	ORPHA:1340
HP:0000175	Cleft palate	8452	CUL3	OMIM:619239
HP:0000175	Cleft palate	6418	SET	OMIM:618106
HP:0000175	Cleft palate	1280	COL2A1	OMIM:108300
HP:0000175	Cleft palate	9839	ZEB2	OMIM:235730
HP:0000175	Cleft palate	5575	PRKAR1B	OMIM:619680
HP:0000175	Cleft palate	54880	BCOR	OMIM:300166
HP:0000175	Cleft palate	54880	BCOR	ORPHA:2712
HP:0000175	Cleft palate	1718	DHCR24	ORPHA:35107
HP:0000175	Cleft palate	8443	GNPAT	OMIM:222765
HP:0000175	Cleft palate	23498	HAAO	OMIM:617660
HP:0000175	Cleft palate	29998	BICRA	OMIM:619325
HP:0000175	Cleft palate	6651	SON	OMIM:617140
HP:0000175	Cleft palate	10220	GDF11	OMIM:619122
HP:0000175	Cleft palate	6662	SOX9	OMIM:114290
HP:0000175	Cleft palate	9993	DGCR2	OMIM:192430
HP:0000175	Cleft palate	8220	ESS2	OMIM:192430
HP:0000175	Cleft palate	8214	DGCR6	OMIM:192430
HP:0000175	Cleft palate	54487	DGCR8	OMIM:192430
HP:0000175	Cleft palate	6899	TBX1	OMIM:192430
HP:0000175	Cleft palate	84892	POMGNT2	ORPHA:899
HP:0000175	Cleft palate	148789	B3GALNT2	ORPHA:899
HP:0000175	Cleft palate	79147	FKRP	ORPHA:899
HP:0000175	Cleft palate	29954	POMT2	ORPHA:899
HP:0000175	Cleft palate	9215	LARGE1	ORPHA:899
HP:0000175	Cleft palate	1282	COL4A1	ORPHA:899
HP:0000175	Cleft palate	729920	CRPPA	ORPHA:899
HP:0000175	Cleft palate	10329	RXYLT1	ORPHA:899
HP:0000175	Cleft palate	1605	DAG1	ORPHA:899
HP:0000175	Cleft palate	11041	B4GAT1	ORPHA:899
HP:0000175	Cleft palate	10585	POMT1	ORPHA:899
HP:0000175	Cleft palate	84197	POMK	ORPHA:899
HP:0000175	Cleft palate	2218	FKTN	ORPHA:899
HP:0000175	Cleft palate	55624	POMGNT1	ORPHA:899
HP:0000175	Cleft palate	3373	HYAL1	OMIM:601492
HP:0000175	Cleft palate	5528	PPP2R5D	ORPHA:457279
HP:0000175	Cleft palate	57479	PRR12	OMIM:619539
HP:0000175	Cleft palate	100151683	RNU4ATAC	ORPHA:2636
HP:0000175	Cleft palate	4000	LMNA	ORPHA:1662
HP:0000175	Cleft palate	10269	ZMPSTE24	ORPHA:1662
HP:0000175	Cleft palate	10269	ZMPSTE24	OMIM:275210
HP:0000175	Cleft palate	93986	FOXP2	ORPHA:209908
HP:0000175	Cleft palate	5604	MAP2K1	ORPHA:1340
HP:0000175	Cleft palate	5605	MAP2K2	ORPHA:1340
HP:0000175	Cleft palate	3845	KRAS	ORPHA:1340
HP:0000175	Cleft palate	23522	KAT6B	ORPHA:3047
HP:0000175	Cleft palate	6496	SIX3	OMIM:157170
HP:0000175	Cleft palate	81620	CDT1	ORPHA:2554
HP:0000175	Cleft palate	5000	ORC4	ORPHA:2554
HP:0000175	Cleft palate	23594	ORC6	ORPHA:2554
HP:0000175	Cleft palate	8318	CDC45	ORPHA:2554
HP:0000175	Cleft palate	990	CDC6	ORPHA:2554
HP:0000175	Cleft palate	990	CDC6	OMIM:613805
HP:0000175	Cleft palate	4998	ORC1	ORPHA:2554
HP:0000175	Cleft palate	51053	GMNN	ORPHA:2554
HP:0000175	Cleft palate	26123	TCTN3	ORPHA:2753
HP:0000175	Cleft palate	55553	SOX6	OMIM:618971
HP:0000175	Cleft palate	10524	KAT5	OMIM:619103
HP:0000175	Cleft palate	833	CARS1	OMIM:618891
HP:0000175	Cleft palate	1009	CDH11	ORPHA:1299
HP:0000175	Cleft palate	51729	WBP11	OMIM:619227
HP:0000175	Cleft palate	219844	HYLS1	ORPHA:2189
HP:0000175	Cleft palate	374654	KIF7	ORPHA:2189
HP:0000175	Cleft palate	139285	AMER1	ORPHA:2780
HP:0000175	Cleft palate	4089	SMAD4	ORPHA:2588
HP:0000175	Cleft palate	1859	DYRK1A	ORPHA:268261
HP:0000175	Cleft palate	64359	NXN	OMIM:618529
HP:0000175	Cleft palate	79005	SCNM1	OMIM:620107
HP:0000175	Cleft palate	6138	RPL15	ORPHA:124
HP:0000175	Cleft palate	6229	RPS24	ORPHA:124
HP:0000175	Cleft palate	6204	RPS10	ORPHA:124
HP:0000175	Cleft palate	6224	RPS20	ORPHA:124
HP:0000175	Cleft palate	6165	RPL35A	ORPHA:124
HP:0000175	Cleft palate	2623	GATA1	ORPHA:124
HP:0000175	Cleft palate	6232	RPS27	ORPHA:124
HP:0000175	Cleft palate	11224	RPL35	ORPHA:124
HP:0000175	Cleft palate	6160	RPL31	ORPHA:124
HP:0000175	Cleft palate	6218	RPS17	ORPHA:124
HP:0000175	Cleft palate	6201	RPS7	ORPHA:124
HP:0000175	Cleft palate	6155	RPL27	ORPHA:124
HP:0000175	Cleft palate	6154	RPL26	ORPHA:124
HP:0000175	Cleft palate	6210	RPS15A	ORPHA:124
HP:0000175	Cleft palate	6141	RPL18	ORPHA:124
HP:0000175	Cleft palate	6235	RPS29	ORPHA:124
HP:0000175	Cleft palate	51816	ADA2	ORPHA:124
HP:0000175	Cleft palate	8882	ZPR1	OMIM:619321
HP:0000175	Cleft palate	2783	GNB2	OMIM:619503
HP:0000175	Cleft palate	55033	FKBP14	OMIM:614557
HP:0000175	Cleft palate	6602	SMARCD1	OMIM:618779
HP:0000175	Cleft palate	60386	SLC25A19	ORPHA:99742
HP:0000175	Cleft palate	1147	CHUK	OMIM:619339
HP:0000175	Cleft palate	8405	SPOP	OMIM:618829
HP:0000175	Cleft palate	1500	CTNND1	ORPHA:1997
HP:0000175	Cleft palate	5626	PROP1	ORPHA:95494
HP:0000175	Cleft palate	89884	LHX4	ORPHA:95494
HP:0000175	Cleft palate	3170	FOXA2	ORPHA:95494
HP:0000175	Cleft palate	5449	POU1F1	ORPHA:95494
HP:0000175	Cleft palate	7474	WNT5A	ORPHA:3107
HP:0000175	Cleft palate	81031	SLC2A10	ORPHA:3342
HP:0000175	Cleft palate	5307	PITX1	OMIM:119800
HP:0000175	Cleft palate	81788	NUAK2	OMIM:619452
HP:0000175	Cleft palate	529	ATP6V1E1	OMIM:617402
HP:0000175	Cleft palate	22858	CILK1	OMIM:612651
HP:0000175	Cleft palate	3930	LBR	OMIM:169400
HP:0000175	Cleft palate	7314	UBB	ORPHA:99771
HP:0000175	Cleft palate	51305	KCNK9	OMIM:612292
HP:0000175	Cleft palate	4841	NONO	OMIM:300967
HP:0000175	Cleft palate	11128	POLR3A	ORPHA:3455
HP:0000175	Cleft palate	10526	IPO8	OMIM:619472
HP:0000175	Cleft palate	7341	SUMO1	OMIM:613705
HP:0000177	Abnormal upper lip morphology	23007	PLCH1	OMIM:619895
HP:0000177	Abnormal upper lip morphology	23007	PLCH1	ORPHA:93925
HP:0000177	Abnormal upper lip morphology	4750	NEK1	OMIM:263520
HP:0000177	Abnormal upper lip morphology	4750	NEK1	ORPHA:2751
HP:0000177	Abnormal upper lip morphology	81788	NUAK2	OMIM:619452
HP:0000177	Abnormal upper lip morphology	6491	STIL	ORPHA:220386
HP:0000177	Abnormal upper lip morphology	6491	STIL	ORPHA:93926
HP:0000177	Abnormal upper lip morphology	6491	STIL	ORPHA:93924
HP:0000177	Abnormal upper lip morphology	6491	STIL	ORPHA:93925
HP:0000177	Abnormal upper lip morphology	6608	SMO	OMIM:241800
HP:0000177	Abnormal upper lip morphology	57688	ZSWIM6	ORPHA:1827
HP:0000177	Abnormal upper lip morphology	219844	HYLS1	OMIM:236680
HP:0000177	Abnormal upper lip morphology	26123	TCTN3	ORPHA:2753
HP:0000177	Abnormal upper lip morphology	257	ALX3	OMIM:136760
HP:0000177	Abnormal upper lip morphology	51626	DYNC2LI1	OMIM:617088
HP:0000177	Abnormal upper lip morphology	54101	RIPK4	ORPHA:1234
HP:0000177	Abnormal upper lip morphology	22858	CILK1	OMIM:612651
HP:0000177	Abnormal upper lip morphology	27152	INTU	OMIM:617926
HP:0000177	Abnormal upper lip morphology	3090	HIC1	ORPHA:531
HP:0000177	Abnormal upper lip morphology	5048	PAFAH1B1	ORPHA:531
HP:0000177	Abnormal upper lip morphology	7531	YWHAE	ORPHA:531
HP:0000177	Abnormal upper lip morphology	547	KIF1A	ORPHA:2836
HP:0000177	Abnormal upper lip morphology	9896	FIG4	OMIM:216340
HP:0000177	Abnormal upper lip morphology	9896	FIG4	ORPHA:3472
HP:0000177	Abnormal upper lip morphology	23065	EMC1	OMIM:616875
HP:0000177	Abnormal upper lip morphology	55697	VAC14	ORPHA:3472
HP:0000177	Abnormal upper lip morphology	53834	FGFRL1	OMIM:194190
HP:0000177	Abnormal upper lip morphology	117581	TWIST2	OMIM:200110
HP:0000177	Abnormal upper lip morphology	271	AMPD2	OMIM:615809
HP:0000177	Abnormal upper lip morphology	2892	GRIA3	ORPHA:364028
HP:0000177	Abnormal upper lip morphology	341640	FREM2	ORPHA:2052
HP:0000177	Abnormal upper lip morphology	80144	FRAS1	ORPHA:2052
HP:0000177	Abnormal upper lip morphology	80144	FRAS1	OMIM:219000
HP:0000177	Abnormal upper lip morphology	23426	GRIP1	ORPHA:2052
HP:0000177	Abnormal upper lip morphology	128674	PROKR2	OMIM:244200
HP:0000177	Abnormal upper lip morphology	5648	MASP1	OMIM:257920
HP:0000177	Abnormal upper lip morphology	10992	SF3B2	OMIM:164210
HP:0000177	Abnormal upper lip morphology	3728	JUP	ORPHA:34217
HP:0000177	Abnormal upper lip morphology	23322	RPGRIP1L	OMIM:611561
HP:0000177	Abnormal upper lip morphology	55636	CHD7	ORPHA:138
HP:0000177	Abnormal upper lip morphology	55636	CHD7	OMIM:214800
HP:0000177	Abnormal upper lip morphology	9723	SEMA3E	ORPHA:138
HP:0000177	Abnormal upper lip morphology	29954	POMT2	OMIM:236670
HP:0000177	Abnormal upper lip morphology	29954	POMT2	OMIM:613150
HP:0000177	Abnormal upper lip morphology	9215	LARGE1	OMIM:236670
HP:0000177	Abnormal upper lip morphology	79147	FKRP	OMIM:236670
HP:0000177	Abnormal upper lip morphology	10585	POMT1	OMIM:236670
HP:0000177	Abnormal upper lip morphology	2218	FKTN	OMIM:236670
HP:0000177	Abnormal upper lip morphology	10584	COLEC10	OMIM:248340
HP:0000177	Abnormal upper lip morphology	50814	NSDHL	OMIM:308050
HP:0000177	Abnormal upper lip morphology	340665	CYP26C1	ORPHA:398189
HP:0000177	Abnormal upper lip morphology	79867	TCTN2	OMIM:613885
HP:0000177	Abnormal upper lip morphology	2737	GLI3	OMIM:146510
HP:0000177	Abnormal upper lip morphology	26227	PHGDH	OMIM:256520
HP:0000177	Abnormal upper lip morphology	57822	GRHL3	OMIM:606713
HP:0000177	Abnormal upper lip morphology	57822	GRHL3	ORPHA:888
HP:0000177	Abnormal upper lip morphology	64840	PORCN	OMIM:305600
HP:0000177	Abnormal upper lip morphology	1947	EFNB1	OMIM:304110
HP:0000177	Abnormal upper lip morphology	57545	CC2D2A	OMIM:612284
HP:0000177	Abnormal upper lip morphology	6125	RPL5	OMIM:612561
HP:0000177	Abnormal upper lip morphology	57514	ARHGAP31	OMIM:100300
HP:0000177	Abnormal upper lip morphology	157570	ESCO2	ORPHA:3103
HP:0000177	Abnormal upper lip morphology	157570	ESCO2	OMIM:268300
HP:0000177	Abnormal upper lip morphology	157570	ESCO2	OMIM:216100
HP:0000177	Abnormal upper lip morphology	84172	POLR1B	ORPHA:861
HP:0000177	Abnormal upper lip morphology	9533	POLR1C	ORPHA:861
HP:0000177	Abnormal upper lip morphology	51082	POLR1D	ORPHA:861
HP:0000177	Abnormal upper lip morphology	6949	TCOF1	ORPHA:861
HP:0000177	Abnormal upper lip morphology	1654	DDX3X	OMIM:300958
HP:0000177	Abnormal upper lip morphology	4488	MSX2	OMIM:168500
HP:0000177	Abnormal upper lip morphology	4222	MEOX1	OMIM:214300
HP:0000177	Abnormal upper lip morphology	139285	AMER1	OMIM:300373
HP:0000177	Abnormal upper lip morphology	2121	EVC	OMIM:225500
HP:0000177	Abnormal upper lip morphology	132884	EVC2	OMIM:225500
HP:0000177	Abnormal upper lip morphology	23483	TGDS	OMIM:616145
HP:0000177	Abnormal upper lip morphology	23133	PHF8	ORPHA:85287
HP:0000177	Abnormal upper lip morphology	284058	KANSL1	OMIM:610443
HP:0000177	Abnormal upper lip morphology	11023	VAX1	OMIM:614402
HP:0000177	Abnormal upper lip morphology	2303	FOXC2	ORPHA:33001
HP:0000177	Abnormal upper lip morphology	2303	FOXC2	OMIM:153400
HP:0000177	Abnormal upper lip morphology	7473	WNT3	OMIM:273395
HP:0000177	Abnormal upper lip morphology	6223	RPS19	OMIM:105650
HP:0000177	Abnormal upper lip morphology	171023	ASXL1	OMIM:605039
HP:0000177	Abnormal upper lip morphology	2317	FLNB	OMIM:150250
HP:0000177	Abnormal upper lip morphology	55315	SLC29A3	ORPHA:168569
HP:0000177	Abnormal upper lip morphology	79029	AFG2B	OMIM:619616
HP:0000177	Abnormal upper lip morphology	6201	RPS7	OMIM:612563
HP:0000177	Abnormal upper lip morphology	9562	MINPP1	ORPHA:284339
HP:0000177	Abnormal upper lip morphology	672	BRCA1	OMIM:617883
HP:0000177	Abnormal upper lip morphology	104	ADARB1	OMIM:618862
HP:0000177	Abnormal upper lip morphology	23241	PACS2	OMIM:618067
HP:0000177	Abnormal upper lip morphology	775	CACNA1C	OMIM:620029
HP:0000177	Abnormal upper lip morphology	775	CACNA1C	OMIM:601005
HP:0000177	Abnormal upper lip morphology	3703	STT3A	OMIM:619714
HP:0000177	Abnormal upper lip morphology	4774	NFIA	OMIM:613735
HP:0000177	Abnormal upper lip morphology	23126	POGZ	ORPHA:468678
HP:0000177	Abnormal upper lip morphology	4983	OPHN1	OMIM:300486
HP:0000177	Abnormal upper lip morphology	116931	MED12L	OMIM:618872
HP:0000177	Abnormal upper lip morphology	10300	KATNB1	OMIM:616212
HP:0000177	Abnormal upper lip morphology	80816	ASXL3	OMIM:615485
HP:0000177	Abnormal upper lip morphology	10026	PIGK	OMIM:618879
HP:0000177	Abnormal upper lip morphology	55788	LMBRD1	OMIM:277380
HP:0000177	Abnormal upper lip morphology	28960	DCPS	OMIM:616459
HP:0000177	Abnormal upper lip morphology	10978	CLP1	OMIM:615803
HP:0000177	Abnormal upper lip morphology	7994	KAT6A	ORPHA:457193
HP:0000177	Abnormal upper lip morphology	7994	KAT6A	OMIM:616268
HP:0000177	Abnormal upper lip morphology	23325	WASHC4	OMIM:615817
HP:0000177	Abnormal upper lip morphology	79087	ALG12	OMIM:607143
HP:0000177	Abnormal upper lip morphology	79087	ALG12	ORPHA:79324
HP:0000177	Abnormal upper lip morphology	5159	PDGFRB	OMIM:616592
HP:0000177	Abnormal upper lip morphology	51651	PTRH2	ORPHA:456312
HP:0000177	Abnormal upper lip morphology	51651	PTRH2	OMIM:616263
HP:0000177	Abnormal upper lip morphology	699	BUB1	OMIM:620183
HP:0000177	Abnormal upper lip morphology	4953	ODC1	OMIM:619075
HP:0000177	Abnormal upper lip morphology	8493	PPM1D	OMIM:617450
HP:0000177	Abnormal upper lip morphology	5063	PAK3	OMIM:300558
HP:0000177	Abnormal upper lip morphology	116115	ZNF526	OMIM:619877
HP:0000177	Abnormal upper lip morphology	3098	HK1	OMIM:618547
HP:0000177	Abnormal upper lip morphology	8085	KMT2D	OMIM:620186
HP:0000177	Abnormal upper lip morphology	57459	GATAD2B	ORPHA:363686
HP:0000177	Abnormal upper lip morphology	57459	GATAD2B	OMIM:615074
HP:0000177	Abnormal upper lip morphology	53335	BCL11A	OMIM:617101
HP:0000177	Abnormal upper lip morphology	92002	CCNQ	ORPHA:140952
HP:0000177	Abnormal upper lip morphology	92002	CCNQ	OMIM:300707
HP:0000177	Abnormal upper lip morphology	81887	LAS1L	ORPHA:3459
HP:0000177	Abnormal upper lip morphology	6605	SMARCE1	OMIM:616938
HP:0000177	Abnormal upper lip morphology	6605	SMARCE1	ORPHA:1465
HP:0000177	Abnormal upper lip morphology	471	ATIC	OMIM:608688
HP:0000177	Abnormal upper lip morphology	471	ATIC	ORPHA:250977
HP:0000177	Abnormal upper lip morphology	1523	CUX1	OMIM:618330
HP:0000177	Abnormal upper lip morphology	4208	MEF2C	OMIM:613443
HP:0000177	Abnormal upper lip morphology	9949	AMMECR1	OMIM:300990
HP:0000177	Abnormal upper lip morphology	8473	OGT	OMIM:300997
HP:0000177	Abnormal upper lip morphology	55628	ZNF407	OMIM:619557
HP:0000177	Abnormal upper lip morphology	23028	KDM1A	OMIM:616728
HP:0000177	Abnormal upper lip morphology	23028	KDM1A	ORPHA:477993
HP:0000177	Abnormal upper lip morphology	7681	MKRN3	OMIM:176270
HP:0000177	Abnormal upper lip morphology	3653	IPW	OMIM:176270
HP:0000177	Abnormal upper lip morphology	791114	PWRN1	OMIM:176270
HP:0000177	Abnormal upper lip morphology	100033413	SNORD116-1	OMIM:176270
HP:0000177	Abnormal upper lip morphology	8924	HERC2	OMIM:176270
HP:0000177	Abnormal upper lip morphology	145624	PWAR1	OMIM:176270
HP:0000177	Abnormal upper lip morphology	23742	NPAP1	OMIM:176270
HP:0000177	Abnormal upper lip morphology	338433	SNORD115-1	OMIM:176270
HP:0000177	Abnormal upper lip morphology	5575	PRKAR1B	OMIM:619680
HP:0000177	Abnormal upper lip morphology	6492	SIM1	ORPHA:398079
HP:0000177	Abnormal upper lip morphology	55784	MCTP2	ORPHA:1596
HP:0000177	Abnormal upper lip morphology	3097	HIVEP2	OMIM:616977
HP:0000177	Abnormal upper lip morphology	6638	SNRPN	ORPHA:177901
HP:0000177	Abnormal upper lip morphology	6638	SNRPN	ORPHA:177907
HP:0000177	Abnormal upper lip morphology	4692	NDN	ORPHA:177901
HP:0000177	Abnormal upper lip morphology	4948	OCA2	ORPHA:177901
HP:0000177	Abnormal upper lip morphology	6601	SMARCC2	OMIM:618362
HP:0000177	Abnormal upper lip morphology	6601	SMARCC2	ORPHA:1465
HP:0000177	Abnormal upper lip morphology	5977	DPF2	ORPHA:1465
HP:0000177	Abnormal upper lip morphology	5977	DPF2	OMIM:618027
HP:0000177	Abnormal upper lip morphology	6602	SMARCD1	ORPHA:1465
HP:0000177	Abnormal upper lip morphology	6664	SOX11	ORPHA:1465
HP:0000177	Abnormal upper lip morphology	57211	ADGRG6	OMIM:616503
HP:0000177	Abnormal upper lip morphology	5308	PITX2	OMIM:180500
HP:0000177	Abnormal upper lip morphology	3759	KCNJ2	OMIM:170390
HP:0000177	Abnormal upper lip morphology	3759	KCNJ2	ORPHA:37553
HP:0000177	Abnormal upper lip morphology	9241	NOG	OMIM:186500
HP:0000177	Abnormal upper lip morphology	7703	PCGF2	OMIM:618371
HP:0000177	Abnormal upper lip morphology	5718	PSMD12	ORPHA:529962
HP:0000177	Abnormal upper lip morphology	2186	BPTF	ORPHA:529962
HP:0000177	Abnormal upper lip morphology	2186	BPTF	OMIM:617755
HP:0000177	Abnormal upper lip morphology	1457	CSNK2A1	OMIM:617062
HP:0000177	Abnormal upper lip morphology	285590	SH3PXD2B	OMIM:249420
HP:0000177	Abnormal upper lip morphology	23112	TNRC6B	OMIM:619243
HP:0000177	Abnormal upper lip morphology	112752	IFT43	OMIM:617866
HP:0000177	Abnormal upper lip morphology	10551	AGR2	OMIM:620233
HP:0000177	Abnormal upper lip morphology	55252	ASXL2	OMIM:617190
HP:0000177	Abnormal upper lip morphology	80267	EDEM3	OMIM:619493
HP:0000177	Abnormal upper lip morphology	4841	NONO	ORPHA:466791
HP:0000177	Abnormal upper lip morphology	10084	PQBP1	OMIM:309500
HP:0000177	Abnormal upper lip morphology	57020	VPS35L	OMIM:619135
HP:0000177	Abnormal upper lip morphology	1984	EIF5A	OMIM:619376
HP:0000177	Abnormal upper lip morphology	178	AGL	OMIM:232400
HP:0000177	Abnormal upper lip morphology	51780	KDM3B	OMIM:618846
HP:0000177	Abnormal upper lip morphology	3664	IRF6	ORPHA:1300
HP:0000177	Abnormal upper lip morphology	738	VPS51	OMIM:618606
HP:0000177	Abnormal upper lip morphology	3778	KCNMA1	OMIM:618729
HP:0000177	Abnormal upper lip morphology	4848	CNOT2	OMIM:618608
HP:0000177	Abnormal upper lip morphology	9276	COPB2	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	11113	CIT	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	9928	KIF14	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	22995	CEP152	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	284403	WDR62	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	55262	TRAPPC14	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	163786	SASS6	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	84879	MFSD2A	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	4176	MCM7	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	80254	CEP63	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	23310	NCAPD3	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	55755	CDK5RAP2	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	79648	MCPH1	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	23141	ANKLE2	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	259266	ASPM	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	7109	TRAPPC10	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	1911	PHC1	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	6884	TAF13	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	9662	CEP135	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	55835	CENPJ	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	57082	KNL1	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	1021	CDK6	ORPHA:2512
HP:0000177	Abnormal upper lip morphology	11011	TLK2	OMIM:618050
HP:0000177	Abnormal upper lip morphology	27161	AGO2	OMIM:619149
HP:0000177	Abnormal upper lip morphology	3762	KCNJ5	ORPHA:37553
HP:0000177	Abnormal upper lip morphology	10815	CPLX1	ORPHA:280
HP:0000177	Abnormal upper lip morphology	54872	PIGG	ORPHA:280
HP:0000177	Abnormal upper lip morphology	7469	NELFA	ORPHA:280
HP:0000177	Abnormal upper lip morphology	1487	CTBP1	ORPHA:280
HP:0000177	Abnormal upper lip morphology	3954	LETM1	ORPHA:280
HP:0000177	Abnormal upper lip morphology	7468	NSD2	ORPHA:280
HP:0000177	Abnormal upper lip morphology	83479	DDX59	ORPHA:2919
HP:0000177	Abnormal upper lip morphology	5818	NECTIN1	OMIM:225060
HP:0000177	Abnormal upper lip morphology	54551	MAGEL2	OMIM:615547
HP:0000177	Abnormal upper lip morphology	60529	ALX4	OMIM:613451
HP:0000177	Abnormal upper lip morphology	60529	ALX4	ORPHA:228390
HP:0000177	Abnormal upper lip morphology	55107	ANO1	OMIM:620045
HP:0000177	Abnormal upper lip morphology	78989	COLEC11	OMIM:265050
HP:0000177	Abnormal upper lip morphology	54499	TMCO1	ORPHA:1394
HP:0000177	Abnormal upper lip morphology	55780	ERMARD	ORPHA:75857
HP:0000177	Abnormal upper lip morphology	11253	MAN1B1	ORPHA:397941
HP:0000177	Abnormal upper lip morphology	11253	MAN1B1	OMIM:614202
HP:0000177	Abnormal upper lip morphology	50651	SLC45A1	OMIM:617532
HP:0000177	Abnormal upper lip morphology	9578	CDC42BPB	OMIM:619841
HP:0000177	Abnormal upper lip morphology	613	BCR	ORPHA:261330
HP:0000177	Abnormal upper lip morphology	1399	CRKL	ORPHA:261330
HP:0000177	Abnormal upper lip morphology	89910	UBE3B	OMIM:244450
HP:0000177	Abnormal upper lip morphology	89910	UBE3B	ORPHA:2707
HP:0000177	Abnormal upper lip morphology	55690	PACS1	OMIM:615009
HP:0000177	Abnormal upper lip morphology	55690	PACS1	ORPHA:329224
HP:0000177	Abnormal upper lip morphology	10472	ZBTB18	ORPHA:36367
HP:0000177	Abnormal upper lip morphology	10472	ZBTB18	OMIM:612337
HP:0000177	Abnormal upper lip morphology	56992	KIF15	ORPHA:261323
HP:0000177	Abnormal upper lip morphology	83696	TRAPPC9	OMIM:613192
HP:0000177	Abnormal upper lip morphology	55870	ASH1L	OMIM:617796
HP:0000177	Abnormal upper lip morphology	3899	AFF3	OMIM:619297
HP:0000177	Abnormal upper lip morphology	10087	CERT1	OMIM:616351
HP:0000177	Abnormal upper lip morphology	22884	WDR37	OMIM:618652
HP:0000177	Abnormal upper lip morphology	1193	CLIC2	ORPHA:324410
HP:0000177	Abnormal upper lip morphology	1656	DDX6	OMIM:618653
HP:0000177	Abnormal upper lip morphology	23036	ZNF292	OMIM:619188
HP:0000177	Abnormal upper lip morphology	26057	ANKRD17	OMIM:619504
HP:0000177	Abnormal upper lip morphology	55623	THUMPD1	OMIM:619989
HP:0000177	Abnormal upper lip morphology	5792	PTPRF	OMIM:616001
HP:0000177	Abnormal upper lip morphology	285362	SUMF1	ORPHA:585
HP:0000177	Abnormal upper lip morphology	79718	TBL1XR1	OMIM:602342
HP:0000177	Abnormal upper lip morphology	79718	TBL1XR1	ORPHA:487825
HP:0000177	Abnormal upper lip morphology	79228	THOC6	ORPHA:363444
HP:0000177	Abnormal upper lip morphology	7358	UGDH	OMIM:618792
HP:0000177	Abnormal upper lip morphology	8242	KDM5C	OMIM:300534
HP:0000177	Abnormal upper lip morphology	6611	SMS	OMIM:309583
HP:0000177	Abnormal upper lip morphology	6611	SMS	ORPHA:3063
HP:0000177	Abnormal upper lip morphology	147372	CCBE1	OMIM:235510
HP:0000177	Abnormal upper lip morphology	10533	ATG7	OMIM:619422
HP:0000177	Abnormal upper lip morphology	8295	TRRAP	OMIM:618454
HP:0000177	Abnormal upper lip morphology	9742	IFT140	OMIM:266920
HP:0000177	Abnormal upper lip morphology	54903	MKS1	OMIM:249000
HP:0000177	Abnormal upper lip morphology	8621	CDK13	OMIM:617360
HP:0000177	Abnormal upper lip morphology	22907	DHX30	OMIM:617804
HP:0000177	Abnormal upper lip morphology	6857	SYT1	OMIM:618218
HP:0000177	Abnormal upper lip morphology	6857	SYT1	ORPHA:522077
HP:0000177	Abnormal upper lip morphology	91949	COG7	OMIM:608779
HP:0000177	Abnormal upper lip morphology	1281	COL3A1	OMIM:618343
HP:0000177	Abnormal upper lip morphology	54517	PUS7	OMIM:618342
HP:0000177	Abnormal upper lip morphology	10765	KDM5B	OMIM:618109
HP:0000177	Abnormal upper lip morphology	57122	NUP107	OMIM:618348
HP:0000177	Abnormal upper lip morphology	57122	NUP107	OMIM:616730
HP:0000177	Abnormal upper lip morphology	128869	PIGU	OMIM:618590
HP:0000177	Abnormal upper lip morphology	221496	LEMD2	OMIM:619322
HP:0000177	Abnormal upper lip morphology	8882	ZPR1	OMIM:619321
HP:0000177	Abnormal upper lip morphology	10157	AASS	ORPHA:2203
HP:0000177	Abnormal upper lip morphology	64135	IFIH1	OMIM:182250
HP:0000177	Abnormal upper lip morphology	1725	DHPS	OMIM:618480
HP:0000177	Abnormal upper lip morphology	201163	FLCN	OMIM:610883
HP:0000177	Abnormal upper lip morphology	9969	MED13	OMIM:618009
HP:0000177	Abnormal upper lip morphology	25	ABL1	OMIM:617602
HP:0000177	Abnormal upper lip morphology	5000	ORC4	OMIM:613800
HP:0000177	Abnormal upper lip morphology	6304	SATB1	OMIM:619229
HP:0000177	Abnormal upper lip morphology	8943	AP3D1	OMIM:617050
HP:0000177	Abnormal upper lip morphology	84265	POLR3GL	OMIM:619234
HP:0000177	Abnormal upper lip morphology	6711	SPTBN1	OMIM:619475
HP:0000177	Abnormal upper lip morphology	1859	DYRK1A	OMIM:614104
HP:0000177	Abnormal upper lip morphology	25914	RTTN	ORPHA:468631
HP:0000177	Abnormal upper lip morphology	8405	SPOP	OMIM:618828
HP:0000177	Abnormal upper lip morphology	63932	STEEP1	OMIM:301013
HP:0000177	Abnormal upper lip morphology	10682	EBP	OMIM:300960
HP:0000177	Abnormal upper lip morphology	5290	PIK3CA	OMIM:602501
HP:0000177	Abnormal upper lip morphology	54870	QRICH1	OMIM:617982
HP:0000177	Abnormal upper lip morphology	118924	FRA10AC1	OMIM:620113
HP:0000177	Abnormal upper lip morphology	54888	NSUN2	OMIM:611091
HP:0000177	Abnormal upper lip morphology	6651	SON	ORPHA:500150
HP:0000177	Abnormal upper lip morphology	25974	MMACHC	ORPHA:79282
HP:0000177	Abnormal upper lip morphology	25974	MMACHC	OMIM:277400
HP:0000177	Abnormal upper lip morphology	5557	PRIM1	OMIM:620005
HP:0000177	Abnormal upper lip morphology	10079	ATP9A	OMIM:620242
HP:0000177	Abnormal upper lip morphology	55331	ACER3	OMIM:617762
HP:0000177	Abnormal upper lip morphology	57728	WDR19	OMIM:614378
HP:0000177	Abnormal upper lip morphology	10844	TUBGCP2	OMIM:618737
HP:0000177	Abnormal upper lip morphology	1460	CSNK2B	OMIM:618732
HP:0000177	Abnormal upper lip morphology	5052	PRDX1	OMIM:277400
HP:0000177	Abnormal upper lip morphology	26128	KIFBP	OMIM:609460
HP:0000177	Abnormal upper lip morphology	7021	TFAP2B	OMIM:169100
HP:0000177	Abnormal upper lip morphology	7021	TFAP2B	ORPHA:46627
HP:0000177	Abnormal upper lip morphology	4784	NFIX	ORPHA:447980
HP:0000177	Abnormal upper lip morphology	4784	NFIX	OMIM:602535
HP:0000177	Abnormal upper lip morphology	23118	TAB2	ORPHA:228410
HP:0000177	Abnormal upper lip morphology	150468	CKAP2L	ORPHA:3255
HP:0000177	Abnormal upper lip morphology	150468	CKAP2L	OMIM:272440
HP:0000177	Abnormal upper lip morphology	4038	LRP4	ORPHA:3258
HP:0000177	Abnormal upper lip morphology	10559	SLC35A1	OMIM:603585
HP:0000177	Abnormal upper lip morphology	7102	TSPAN7	OMIM:300210
HP:0000177	Abnormal upper lip morphology	157680	VPS13B	OMIM:216550
HP:0000177	Abnormal upper lip morphology	157680	VPS13B	ORPHA:193
HP:0000177	Abnormal upper lip morphology	9839	ZEB2	ORPHA:261552
HP:0000177	Abnormal upper lip morphology	9839	ZEB2	ORPHA:261537
HP:0000177	Abnormal upper lip morphology	10716	TBR1	ORPHA:1617
HP:0000177	Abnormal upper lip morphology	2615	LRRC32	OMIM:619074
HP:0000177	Abnormal upper lip morphology	26038	CHD5	OMIM:619873
HP:0000177	Abnormal upper lip morphology	8905	AP1S2	ORPHA:85335
HP:0000177	Abnormal upper lip morphology	8363	H4C11	OMIM:619759
HP:0000177	Abnormal upper lip morphology	126695	KDF1	OMIM:617337
HP:0000177	Abnormal upper lip morphology	9508	ADAMTS3	ORPHA:2136
HP:0000177	Abnormal upper lip morphology	10013	HDAC6	ORPHA:163966
HP:0000177	Abnormal upper lip morphology	10907	TXNL4A	OMIM:608572
HP:0000177	Abnormal upper lip morphology	54828	BCAS3	OMIM:619641
HP:0000177	Abnormal upper lip morphology	4849	CNOT3	OMIM:618672
HP:0000177	Abnormal upper lip morphology	25973	PARS2	OMIM:618437
HP:0000177	Abnormal upper lip morphology	668	FOXL2	ORPHA:572333
HP:0000177	Abnormal upper lip morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000177	Abnormal upper lip morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000177	Abnormal upper lip morphology	51574	LARP7	ORPHA:319671
HP:0000177	Abnormal upper lip morphology	51574	LARP7	OMIM:615071
HP:0000177	Abnormal upper lip morphology	85440	DOCK7	OMIM:615859
HP:0000177	Abnormal upper lip morphology	85440	DOCK7	ORPHA:411986
HP:0000177	Abnormal upper lip morphology	3658	IREB2	OMIM:618451
HP:0000177	Abnormal upper lip morphology	55081	IFT57	OMIM:617927
HP:0000177	Abnormal upper lip morphology	11160	ERLIN2	ORPHA:280384
HP:0000177	Abnormal upper lip morphology	11160	ERLIN2	ORPHA:209951
HP:0000177	Abnormal upper lip morphology	55217	TMLHE	OMIM:300872
HP:0000177	Abnormal upper lip morphology	56896	DPYSL5	OMIM:619435
HP:0000177	Abnormal upper lip morphology	29926	GMPPA	OMIM:615510
HP:0000177	Abnormal upper lip morphology	5515	PPP2CA	OMIM:618354
HP:0000177	Abnormal upper lip morphology	2782	GNB1	OMIM:616973
HP:0000177	Abnormal upper lip morphology	51114	ZDHHC9	ORPHA:776
HP:0000177	Abnormal upper lip morphology	65109	UPF3B	ORPHA:776
HP:0000177	Abnormal upper lip morphology	2067	ERCC1	OMIM:610758
HP:0000177	Abnormal upper lip morphology	57551	TAOK1	OMIM:619575
HP:0000177	Abnormal upper lip morphology	5530	PPP3CA	OMIM:617711
HP:0000177	Abnormal upper lip morphology	6045	RNF2	OMIM:619460
HP:0000177	Abnormal upper lip morphology	79576	NKAP	OMIM:301039
HP:0000177	Abnormal upper lip morphology	3188	HNRNPH2	OMIM:300986
HP:0000177	Abnormal upper lip morphology	158326	FREM1	OMIM:608980
HP:0000177	Abnormal upper lip morphology	57498	KIDINS220	OMIM:617296
HP:0000177	Abnormal upper lip morphology	5702	PSMC3	OMIM:619354
HP:0000177	Abnormal upper lip morphology	54361	WNT4	ORPHA:247768
HP:0000177	Abnormal upper lip morphology	80036	TRPM3	OMIM:620224
HP:0000177	Abnormal upper lip morphology	51317	PHF21A	ORPHA:52022
HP:0000177	Abnormal upper lip morphology	83737	ITCH	OMIM:613385
HP:0000177	Abnormal upper lip morphology	28952	CCDC22	OMIM:300963
HP:0000177	Abnormal upper lip morphology	6786	STIM1	OMIM:185070
HP:0000177	Abnormal upper lip morphology	2893	GRIA4	OMIM:617864
HP:0000177	Abnormal upper lip morphology	8450	CUL4B	ORPHA:85293
HP:0000177	Abnormal upper lip morphology	7291	TWIST1	OMIM:617746
HP:0000177	Abnormal upper lip morphology	11043	MID2	OMIM:300928
HP:0000177	Abnormal upper lip morphology	22931	RAB18	ORPHA:2510
HP:0000177	Abnormal upper lip morphology	860	RUNX2	OMIM:156510
HP:0000177	Abnormal upper lip morphology	57647	DHX37	OMIM:618731
HP:0000177	Abnormal upper lip morphology	5566	PRKACA	OMIM:619142
HP:0000177	Abnormal upper lip morphology	2036	EPB41L1	OMIM:614257
HP:0000177	Abnormal upper lip morphology	2137	EXTL3	ORPHA:508533
HP:0000177	Abnormal upper lip morphology	51399	TRAPPC4	OMIM:618741
HP:0000177	Abnormal upper lip morphology	23019	CNOT1	OMIM:618500
HP:0000177	Abnormal upper lip morphology	28981	IFT81	OMIM:617895
HP:0000177	Abnormal upper lip morphology	5728	PTEN	OMIM:605309
HP:0000177	Abnormal upper lip morphology	5728	PTEN	ORPHA:109
HP:0000177	Abnormal upper lip morphology	8425	LTBP4	OMIM:613177
HP:0000177	Abnormal upper lip morphology	9820	CUL7	ORPHA:2616
HP:0000177	Abnormal upper lip morphology	9820	CUL7	OMIM:273750
HP:0000177	Abnormal upper lip morphology	23363	OBSL1	ORPHA:2616
HP:0000177	Abnormal upper lip morphology	23363	OBSL1	OMIM:612921
HP:0000177	Abnormal upper lip morphology	83987	CCDC8	ORPHA:2616
HP:0000177	Abnormal upper lip morphology	83987	CCDC8	OMIM:614205
HP:0000177	Abnormal upper lip morphology	7360	UGP2	OMIM:618744
HP:0000177	Abnormal upper lip morphology	538	ATP7A	OMIM:304150
HP:0000177	Abnormal upper lip morphology	538	ATP7A	ORPHA:198
HP:0000177	Abnormal upper lip morphology	5457	POU4F1	ORPHA:314647
HP:0000177	Abnormal upper lip morphology	23261	CAMTA1	ORPHA:314647
HP:0000177	Abnormal upper lip morphology	23261	CAMTA1	OMIM:614756
HP:0000177	Abnormal upper lip morphology	55209	SETD5	ORPHA:404440
HP:0000177	Abnormal upper lip morphology	55209	SETD5	OMIM:615761
HP:0000177	Abnormal upper lip morphology	1836	SLC26A2	ORPHA:56304
HP:0000177	Abnormal upper lip morphology	1836	SLC26A2	ORPHA:93298
HP:0000177	Abnormal upper lip morphology	197131	UBR1	OMIM:243800
HP:0000177	Abnormal upper lip morphology	3021	H3-3B	OMIM:619721
HP:0000177	Abnormal upper lip morphology	51741	WWOX	OMIM:616211
HP:0000177	Abnormal upper lip morphology	1855	DVL1	OMIM:616331
HP:0000177	Abnormal upper lip morphology	1855	DVL1	OMIM:180700
HP:0000177	Abnormal upper lip morphology	1855	DVL1	ORPHA:3107
HP:0000177	Abnormal upper lip morphology	55790	CSGALNACT1	OMIM:618870
HP:0000177	Abnormal upper lip morphology	79639	TMEM53	OMIM:619727
HP:0000177	Abnormal upper lip morphology	2132	EXT2	ORPHA:466926
HP:0000177	Abnormal upper lip morphology	23384	SPECC1L	ORPHA:1519
HP:0000177	Abnormal upper lip morphology	23384	SPECC1L	OMIM:145420
HP:0000177	Abnormal upper lip morphology	3764	KCNJ8	ORPHA:1517
HP:0000177	Abnormal upper lip morphology	10060	ABCC9	ORPHA:1517
HP:0000177	Abnormal upper lip morphology	10060	ABCC9	OMIM:239850
HP:0000177	Abnormal upper lip morphology	79158	GNPTAB	OMIM:252500
HP:0000177	Abnormal upper lip morphology	57231	SNX14	ORPHA:397709
HP:0000177	Abnormal upper lip morphology	57231	SNX14	OMIM:616354
HP:0000177	Abnormal upper lip morphology	57589	RIC1	OMIM:618761
HP:0000177	Abnormal upper lip morphology	79868	ALG13	ORPHA:324422
HP:0000177	Abnormal upper lip morphology	818	CAMK2G	OMIM:618522
HP:0000177	Abnormal upper lip morphology	54453	RIN2	OMIM:613075
HP:0000177	Abnormal upper lip morphology	54453	RIN2	ORPHA:217335
HP:0000177	Abnormal upper lip morphology	9469	CHST3	OMIM:143095
HP:0000177	Abnormal upper lip morphology	9469	CHST3	ORPHA:263463
HP:0000177	Abnormal upper lip morphology	9469	CHST3	OMIM:245600
HP:0000177	Abnormal upper lip morphology	113189	CHST14	ORPHA:2953
HP:0000177	Abnormal upper lip morphology	113189	CHST14	OMIM:601776
HP:0000177	Abnormal upper lip morphology	29940	DSE	ORPHA:2953
HP:0000177	Abnormal upper lip morphology	29940	DSE	OMIM:615539
HP:0000177	Abnormal upper lip morphology	54880	BCOR	ORPHA:2712
HP:0000177	Abnormal upper lip morphology	54880	BCOR	OMIM:300166
HP:0000177	Abnormal upper lip morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000177	Abnormal upper lip morphology	23545	ATP6V0A2	OMIM:278250
HP:0000177	Abnormal upper lip morphology	23545	ATP6V0A2	OMIM:219200
HP:0000177	Abnormal upper lip morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000177	Abnormal upper lip morphology	4853	NOTCH2	OMIM:102500
HP:0000177	Abnormal upper lip morphology	4853	NOTCH2	ORPHA:955
HP:0000177	Abnormal upper lip morphology	9968	MED12	ORPHA:93932
HP:0000177	Abnormal upper lip morphology	9968	MED12	OMIM:305450
HP:0000177	Abnormal upper lip morphology	9968	MED12	OMIM:300895
HP:0000177	Abnormal upper lip morphology	79184	BRCC3	ORPHA:280679
HP:0000177	Abnormal upper lip morphology	6872	TAF1	ORPHA:480907
HP:0000177	Abnormal upper lip morphology	6872	TAF1	OMIM:300966
HP:0000177	Abnormal upper lip morphology	10484	SEC23A	OMIM:607812
HP:0000177	Abnormal upper lip morphology	10484	SEC23A	ORPHA:50814
HP:0000177	Abnormal upper lip morphology	4763	NF1	ORPHA:363700
HP:0000177	Abnormal upper lip morphology	54968	TMEM70	OMIM:614052
HP:0000177	Abnormal upper lip morphology	4297	KMT2A	ORPHA:319182
HP:0000177	Abnormal upper lip morphology	4297	KMT2A	OMIM:605130
HP:0000177	Abnormal upper lip morphology	1301	COL11A1	OMIM:228520
HP:0000177	Abnormal upper lip morphology	1301	COL11A1	ORPHA:560
HP:0000177	Abnormal upper lip morphology	1301	COL11A1	OMIM:154780
HP:0000177	Abnormal upper lip morphology	55714	TENM3	OMIM:615145
HP:0000177	Abnormal upper lip morphology	1280	COL2A1	ORPHA:90653
HP:0000177	Abnormal upper lip morphology	1280	COL2A1	ORPHA:166100
HP:0000177	Abnormal upper lip morphology	1280	COL2A1	OMIM:200610
HP:0000177	Abnormal upper lip morphology	57178	ZMIZ1	OMIM:618659
HP:0000177	Abnormal upper lip morphology	55012	PPP2R3C	OMIM:618419
HP:0000177	Abnormal upper lip morphology	200734	SPRED2	OMIM:619745
HP:0000177	Abnormal upper lip morphology	64132	XYLT2	ORPHA:85194
HP:0000177	Abnormal upper lip morphology	4247	MGAT2	OMIM:212066
HP:0000177	Abnormal upper lip morphology	1499	CTNNB1	ORPHA:404473
HP:0000177	Abnormal upper lip morphology	1499	CTNNB1	OMIM:615075
HP:0000177	Abnormal upper lip morphology	2074	ERCC6	OMIM:214150
HP:0000177	Abnormal upper lip morphology	29081	METTL5	OMIM:618665
HP:0000177	Abnormal upper lip morphology	6905	TBCE	OMIM:241410
HP:0000177	Abnormal upper lip morphology	6905	TBCE	ORPHA:2323
HP:0000177	Abnormal upper lip morphology	7862	BRPF1	OMIM:617333
HP:0000177	Abnormal upper lip morphology	57680	CHD8	OMIM:615032
HP:0000177	Abnormal upper lip morphology	2200	FBN1	OMIM:614185
HP:0000177	Abnormal upper lip morphology	2200	FBN1	ORPHA:969
HP:0000177	Abnormal upper lip morphology	2200	FBN1	OMIM:102370
HP:0000177	Abnormal upper lip morphology	8558	CDK10	OMIM:617694
HP:0000177	Abnormal upper lip morphology	51633	OTUD6B	OMIM:617452
HP:0000177	Abnormal upper lip morphology	51633	OTUD6B	ORPHA:505237
HP:0000177	Abnormal upper lip morphology	55699	IARS2	OMIM:616007
HP:0000177	Abnormal upper lip morphology	27125	AFF4	OMIM:616368
HP:0000177	Abnormal upper lip morphology	27125	AFF4	ORPHA:444077
HP:0000177	Abnormal upper lip morphology	9091	PIGQ	OMIM:618548
HP:0000177	Abnormal upper lip morphology	5590	PRKCZ	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	2563	GABRD	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	23013	SPEN	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	23013	SPEN	OMIM:619312
HP:0000177	Abnormal upper lip morphology	8510	MMP23B	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	7798	LUZP1	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	6497	SKI	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	10630	PDPN	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	3339	HSPG2	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	3339	HSPG2	ORPHA:800
HP:0000177	Abnormal upper lip morphology	10277	UBE4B	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	8514	KCNAB2	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	473	RERE	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	63976	PRDM16	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	54897	CASZ1	ORPHA:1606
HP:0000177	Abnormal upper lip morphology	6134	RPL10	ORPHA:459070
HP:0000177	Abnormal upper lip morphology	6134	RPL10	OMIM:300998
HP:0000177	Abnormal upper lip morphology	79796	ALG9	ORPHA:79328
HP:0000177	Abnormal upper lip morphology	79796	ALG9	OMIM:608776
HP:0000177	Abnormal upper lip morphology	56098	PCDHGC4	OMIM:619880
HP:0000177	Abnormal upper lip morphology	200424	TET3	OMIM:618798
HP:0000177	Abnormal upper lip morphology	9772	TMEM94	OMIM:618316
HP:0000177	Abnormal upper lip morphology	57492	ARID1B	ORPHA:251056
HP:0000177	Abnormal upper lip morphology	57492	ARID1B	OMIM:135900
HP:0000177	Abnormal upper lip morphology	2683	B4GALT1	ORPHA:79332
HP:0000177	Abnormal upper lip morphology	124583	CANT1	OMIM:251450
HP:0000177	Abnormal upper lip morphology	23314	SATB2	ORPHA:576283
HP:0000177	Abnormal upper lip morphology	23314	SATB2	ORPHA:251028
HP:0000177	Abnormal upper lip morphology	23314	SATB2	ORPHA:251019
HP:0000177	Abnormal upper lip morphology	23314	SATB2	OMIM:612313
HP:0000177	Abnormal upper lip morphology	5373	PMM2	ORPHA:79318
HP:0000177	Abnormal upper lip morphology	57724	EPG5	OMIM:242840
HP:0000177	Abnormal upper lip morphology	23162	MAPK8IP3	OMIM:618443
HP:0000177	Abnormal upper lip morphology	388662	SLC6A17	OMIM:616269
HP:0000177	Abnormal upper lip morphology	388662	SLC6A17	ORPHA:457212
HP:0000177	Abnormal upper lip morphology	84168	ANTXR1	OMIM:230740
HP:0000177	Abnormal upper lip morphology	84168	ANTXR1	ORPHA:2067
HP:0000177	Abnormal upper lip morphology	25836	NIPBL	OMIM:122470
HP:0000177	Abnormal upper lip morphology	25836	NIPBL	ORPHA:199
HP:0000177	Abnormal upper lip morphology	6513	SLC2A1	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	8831	SYNGAP1	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	1173	AP2M1	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	6323	SCN1A	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	1106	CHD2	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	6529	SLC6A1	ORPHA:1942
HP:0000177	Abnormal upper lip morphology	6595	SMARCA2	OMIM:601358
HP:0000177	Abnormal upper lip morphology	6595	SMARCA2	ORPHA:3051
HP:0000177	Abnormal upper lip morphology	1387	CREBBP	OMIM:618332
HP:0000177	Abnormal upper lip morphology	5881	RAC3	OMIM:618577
HP:0000177	Abnormal upper lip morphology	26173	INTS1	OMIM:618571
HP:0000177	Abnormal upper lip morphology	84188	FAR1	OMIM:616154
HP:0000177	Abnormal upper lip morphology	84188	FAR1	ORPHA:438178
HP:0000177	Abnormal upper lip morphology	6878	TAF6	OMIM:617126
HP:0000177	Abnormal upper lip morphology	7227	TRPS1	OMIM:190350
HP:0000177	Abnormal upper lip morphology	7227	TRPS1	OMIM:190351
HP:0000177	Abnormal upper lip morphology	7227	TRPS1	ORPHA:77258
HP:0000177	Abnormal upper lip morphology	7227	TRPS1	ORPHA:502
HP:0000177	Abnormal upper lip morphology	51013	EXOSC1	OMIM:619304
HP:0000177	Abnormal upper lip morphology	55770	EXOC2	OMIM:619306
HP:0000177	Abnormal upper lip morphology	81603	TRIM8	OMIM:619428
HP:0000177	Abnormal upper lip morphology	4921	DDR2	OMIM:271665
HP:0000177	Abnormal upper lip morphology	22827	PUF60	ORPHA:508498
HP:0000177	Abnormal upper lip morphology	22827	PUF60	ORPHA:508488
HP:0000177	Abnormal upper lip morphology	22827	PUF60	OMIM:615583
HP:0000177	Abnormal upper lip morphology	30000	TNPO2	OMIM:619556
HP:0000177	Abnormal upper lip morphology	8573	CASK	OMIM:300749
HP:0000177	Abnormal upper lip morphology	8573	CASK	ORPHA:163937
HP:0000177	Abnormal upper lip morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0000177	Abnormal upper lip morphology	100151683	RNU4ATAC	OMIM:616651
HP:0000177	Abnormal upper lip morphology	4703	NEB	OMIM:256030
HP:0000177	Abnormal upper lip morphology	4703	NEB	ORPHA:171433
HP:0000177	Abnormal upper lip morphology	55869	HDAC8	OMIM:300882
HP:0000177	Abnormal upper lip morphology	55869	HDAC8	ORPHA:199
HP:0000177	Abnormal upper lip morphology	2972	BRF1	ORPHA:444072
HP:0000177	Abnormal upper lip morphology	1349	COX7B	OMIM:300887
HP:0000177	Abnormal upper lip morphology	91754	NEK9	OMIM:617022
HP:0000177	Abnormal upper lip morphology	650	BMP2	ORPHA:261295
HP:0000177	Abnormal upper lip morphology	650	BMP2	OMIM:617877
HP:0000177	Abnormal upper lip morphology	4081	MAB21L1	OMIM:618479
HP:0000177	Abnormal upper lip morphology	4952	OCRL	ORPHA:534
HP:0000177	Abnormal upper lip morphology	9126	SMC3	OMIM:610759
HP:0000177	Abnormal upper lip morphology	9126	SMC3	ORPHA:199
HP:0000177	Abnormal upper lip morphology	3417	IDH1	ORPHA:99646
HP:0000177	Abnormal upper lip morphology	16	AARS1	OMIM:619691
HP:0000177	Abnormal upper lip morphology	4621	MYH3	OMIM:193700
HP:0000177	Abnormal upper lip morphology	4621	MYH3	ORPHA:2053
HP:0000177	Abnormal upper lip morphology	4621	MYH3	ORPHA:2990
HP:0000177	Abnormal upper lip morphology	153642	ARSK	OMIM:619698
HP:0000177	Abnormal upper lip morphology	23221	RHOBTB2	OMIM:618004
HP:0000177	Abnormal upper lip morphology	4052	LTBP1	OMIM:619451
HP:0000177	Abnormal upper lip morphology	54496	PRMT7	OMIM:617157
HP:0000177	Abnormal upper lip morphology	54496	PRMT7	ORPHA:464288
HP:0000177	Abnormal upper lip morphology	8260	NAA10	OMIM:300855
HP:0000177	Abnormal upper lip morphology	10082	GPC6	OMIM:258315
HP:0000177	Abnormal upper lip morphology	10082	GPC6	ORPHA:93329
HP:0000177	Abnormal upper lip morphology	551	AVP	OMIM:125700
HP:0000177	Abnormal upper lip morphology	5831	PYCR1	OMIM:612940
HP:0000177	Abnormal upper lip morphology	29920	PYCR2	ORPHA:481152
HP:0000177	Abnormal upper lip morphology	29920	PYCR2	OMIM:616420
HP:0000177	Abnormal upper lip morphology	1312	COMT	ORPHA:567
HP:0000177	Abnormal upper lip morphology	221037	JMJD1C	ORPHA:567
HP:0000177	Abnormal upper lip morphology	2812	GP1BB	ORPHA:567
HP:0000177	Abnormal upper lip morphology	6239	RREB1	ORPHA:567
HP:0000177	Abnormal upper lip morphology	6899	TBX1	ORPHA:567
HP:0000177	Abnormal upper lip morphology	7290	HIRA	ORPHA:567
HP:0000177	Abnormal upper lip morphology	9632	SEC24C	ORPHA:567
HP:0000177	Abnormal upper lip morphology	7353	UFD1	ORPHA:567
HP:0000177	Abnormal upper lip morphology	421	ARVCF	ORPHA:567
HP:0000177	Abnormal upper lip morphology	7136	TNNI2	OMIM:601680
HP:0000177	Abnormal upper lip morphology	1009	CDH11	OMIM:211380
HP:0000177	Abnormal upper lip morphology	25942	SIN3A	ORPHA:94065
HP:0000177	Abnormal upper lip morphology	25942	SIN3A	OMIM:613406
HP:0000177	Abnormal upper lip morphology	164	AP1G1	OMIM:619467
HP:0000177	Abnormal upper lip morphology	1822	ATN1	OMIM:618494
HP:0000177	Abnormal upper lip morphology	26040	SETBP1	OMIM:616078
HP:0000177	Abnormal upper lip morphology	5144	PDE4D	ORPHA:439822
HP:0000177	Abnormal upper lip morphology	2475	MTOR	ORPHA:457485
HP:0000177	Abnormal upper lip morphology	2475	MTOR	OMIM:616638
HP:0000177	Abnormal upper lip morphology	1302	COL11A2	ORPHA:166100
HP:0000177	Abnormal upper lip morphology	9244	CRLF1	OMIM:272430
HP:0000177	Abnormal upper lip morphology	9244	CRLF1	ORPHA:1545
HP:0000177	Abnormal upper lip morphology	990	CDC6	OMIM:613805
HP:0000177	Abnormal upper lip morphology	11212	PLPBP	OMIM:617290
HP:0000177	Abnormal upper lip morphology	8812	CCNK	OMIM:618147
HP:0000177	Abnormal upper lip morphology	9851	KIAA0753	OMIM:619479
HP:0000177	Abnormal upper lip morphology	10847	SRCAP	OMIM:619595
HP:0000177	Abnormal upper lip morphology	145173	B3GLCT	OMIM:261540
HP:0000177	Abnormal upper lip morphology	145173	B3GLCT	ORPHA:709
HP:0000177	Abnormal upper lip morphology	2006	ELN	OMIM:123700
HP:0000177	Abnormal upper lip morphology	2006	ELN	ORPHA:904
HP:0000177	Abnormal upper lip morphology	2006	ELN	OMIM:194050
HP:0000177	Abnormal upper lip morphology	526	ATP6V1B2	ORPHA:79500
HP:0000177	Abnormal upper lip morphology	57465	TBC1D24	ORPHA:79500
HP:0000177	Abnormal upper lip morphology	57465	TBC1D24	OMIM:220500
HP:0000177	Abnormal upper lip morphology	2131	EXT1	ORPHA:502
HP:0000177	Abnormal upper lip morphology	7204	TRIO	OMIM:617061
HP:0000177	Abnormal upper lip morphology	7204	TRIO	OMIM:618825
HP:0000177	Abnormal upper lip morphology	7204	TRIO	ORPHA:476126
HP:0000177	Abnormal upper lip morphology	3636	INPPL1	OMIM:258480
HP:0000177	Abnormal upper lip morphology	2571	GAD1	OMIM:619124
HP:0000177	Abnormal upper lip morphology	203068	TUBB	OMIM:156610
HP:0000177	Abnormal upper lip morphology	203068	TUBB	ORPHA:2505
HP:0000177	Abnormal upper lip morphology	8567	MADD	OMIM:619004
HP:0000177	Abnormal upper lip morphology	374879	ZNF699	OMIM:619488
HP:0000177	Abnormal upper lip morphology	440138	ALG11	ORPHA:280071
HP:0000177	Abnormal upper lip morphology	8239	USP9X	OMIM:300968
HP:0000177	Abnormal upper lip morphology	8239	USP9X	ORPHA:480880
HP:0000177	Abnormal upper lip morphology	10651	MTX2	OMIM:619127
HP:0000177	Abnormal upper lip morphology	6472	SHMT2	OMIM:619121
HP:0000177	Abnormal upper lip morphology	93587	TRMT10A	ORPHA:391408
HP:0000177	Abnormal upper lip morphology	84919	PPP1R15B	ORPHA:391408
HP:0000177	Abnormal upper lip morphology	126792	B3GALT6	OMIM:271640
HP:0000177	Abnormal upper lip morphology	126792	B3GALT6	ORPHA:536467
HP:0000177	Abnormal upper lip morphology	5528	PPP2R5D	ORPHA:457279
HP:0000177	Abnormal upper lip morphology	4781	NFIB	OMIM:618286
HP:0000177	Abnormal upper lip morphology	10491	CRTAP	OMIM:610682
HP:0000177	Abnormal upper lip morphology	51594	NBAS	OMIM:614800
HP:0000177	Abnormal upper lip morphology	3295	HSD17B4	OMIM:261515
HP:0000177	Abnormal upper lip morphology	55901	THSD1	OMIM:620244
HP:0000177	Abnormal upper lip morphology	64131	XYLT1	ORPHA:370930
HP:0000177	Abnormal upper lip morphology	64131	XYLT1	OMIM:615777
HP:0000177	Abnormal upper lip morphology	7474	WNT5A	OMIM:180700
HP:0000177	Abnormal upper lip morphology	7474	WNT5A	ORPHA:3107
HP:0000177	Abnormal upper lip morphology	2316	FLNA	ORPHA:555877
HP:0000177	Abnormal upper lip morphology	55181	SMG8	OMIM:619268
HP:0000177	Abnormal upper lip morphology	3735	KARS1	OMIM:619147
HP:0000177	Abnormal upper lip morphology	84842	HPDL	OMIM:619026
HP:0000177	Abnormal upper lip morphology	27445	PCLO	OMIM:608027
HP:0000177	Abnormal upper lip morphology	25886	POC1A	OMIM:614813
HP:0000177	Abnormal upper lip morphology	3480	IGF1R	OMIM:270450
HP:0000177	Abnormal upper lip morphology	158	ADSL	OMIM:103050
HP:0000177	Abnormal upper lip morphology	158	ADSL	ORPHA:46
HP:0000177	Abnormal upper lip morphology	324	APC	ORPHA:261584
HP:0000177	Abnormal upper lip morphology	6309	SC5D	ORPHA:46059
HP:0000177	Abnormal upper lip morphology	6309	SC5D	OMIM:607330
HP:0000177	Abnormal upper lip morphology	5885	RAD21	OMIM:614701
HP:0000177	Abnormal upper lip morphology	5885	RAD21	ORPHA:199
HP:0000177	Abnormal upper lip morphology	84282	RNF135	ORPHA:137634
HP:0000177	Abnormal upper lip morphology	55112	DYNC2I1	ORPHA:93271
HP:0000177	Abnormal upper lip morphology	57560	IFT80	ORPHA:93271
HP:0000177	Abnormal upper lip morphology	57539	WDR35	ORPHA:93271
HP:0000177	Abnormal upper lip morphology	79659	DYNC2H1	ORPHA:93271
HP:0000177	Abnormal upper lip morphology	89891	DYNC2I2	ORPHA:93271
HP:0000177	Abnormal upper lip morphology	374654	KIF7	OMIM:200990
HP:0000177	Abnormal upper lip morphology	58	ACTA1	ORPHA:171433
HP:0000177	Abnormal upper lip morphology	10324	KLHL41	ORPHA:171433
HP:0000177	Abnormal upper lip morphology	7170	TPM3	ORPHA:171433
HP:0000177	Abnormal upper lip morphology	6662	SOX9	OMIM:114290
HP:0000177	Abnormal upper lip morphology	1717	DHCR7	ORPHA:818
HP:0000177	Abnormal upper lip morphology	1717	DHCR7	OMIM:270400
HP:0000177	Abnormal upper lip morphology	25782	RAB3GAP2	OMIM:212720
HP:0000177	Abnormal upper lip morphology	26153	KIF26A	OMIM:620156
HP:0000177	Abnormal upper lip morphology	9382	COG1	OMIM:611209
HP:0000177	Abnormal upper lip morphology	9382	COG1	ORPHA:263508
HP:0000177	Abnormal upper lip morphology	1185	CLCN6	OMIM:619173
HP:0000177	Abnormal upper lip morphology	1146	CHRNG	OMIM:265000
HP:0000177	Abnormal upper lip morphology	1146	CHRNG	ORPHA:2990
HP:0000177	Abnormal upper lip morphology	4001	LMNB1	OMIM:619179
HP:0000177	Abnormal upper lip morphology	170302	ARX	OMIM:300215
HP:0000177	Abnormal upper lip morphology	80204	FBXO11	OMIM:618089
HP:0000177	Abnormal upper lip morphology	8289	ARID1A	OMIM:614607
HP:0000177	Abnormal upper lip morphology	4054	LTBP3	ORPHA:969
HP:0000177	Abnormal upper lip morphology	4054	LTBP3	OMIM:617809
HP:0000177	Abnormal upper lip morphology	8546	AP3B1	OMIM:608233
HP:0000177	Abnormal upper lip morphology	6598	SMARCB1	OMIM:614608
HP:0000177	Abnormal upper lip morphology	6597	SMARCA4	OMIM:614609
HP:0000177	Abnormal upper lip morphology	64919	BCL11B	OMIM:618092
HP:0000177	Abnormal upper lip morphology	6885	MAP3K7	OMIM:157800
HP:0000177	Abnormal upper lip morphology	55148	UBR7	OMIM:619189
HP:0000177	Abnormal upper lip morphology	1954	MEGF8	OMIM:614976
HP:0000177	Abnormal upper lip morphology	4338	MOCS2	OMIM:252160
HP:0000177	Abnormal upper lip morphology	649	BMP1	OMIM:614856
HP:0000177	Abnormal upper lip morphology	124512	METTL23	OMIM:615942
HP:0000177	Abnormal upper lip morphology	79053	ALG8	OMIM:608104
HP:0000177	Abnormal upper lip morphology	2697	GJA1	OMIM:257850
HP:0000177	Abnormal upper lip morphology	23265	EXOC7	OMIM:619072
HP:0000177	Abnormal upper lip morphology	4593	MUSK	OMIM:208150
HP:0000177	Abnormal upper lip morphology	51660	MPC1	OMIM:614741
HP:0000177	Abnormal upper lip morphology	1857	DVL3	ORPHA:3107
HP:0000177	Abnormal upper lip morphology	1857	DVL3	OMIM:616894
HP:0000177	Abnormal upper lip morphology	6804	STX1A	ORPHA:904
HP:0000177	Abnormal upper lip morphology	7461	CLIP2	ORPHA:904
HP:0000177	Abnormal upper lip morphology	84277	DNAJC30	ORPHA:904
HP:0000177	Abnormal upper lip morphology	8468	FKBP6	ORPHA:904
HP:0000177	Abnormal upper lip morphology	5982	RFC2	ORPHA:904
HP:0000177	Abnormal upper lip morphology	2969	GTF2I	ORPHA:904
HP:0000177	Abnormal upper lip morphology	3984	LIMK1	ORPHA:904
HP:0000177	Abnormal upper lip morphology	9569	GTF2IRD1	ORPHA:904
HP:0000177	Abnormal upper lip morphology	155382	VPS37D	ORPHA:904
HP:0000177	Abnormal upper lip morphology	155368	METTL27	ORPHA:904
HP:0000177	Abnormal upper lip morphology	114049	BUD23	ORPHA:904
HP:0000177	Abnormal upper lip morphology	7458	EIF4H	ORPHA:904
HP:0000177	Abnormal upper lip morphology	84163	GTF2IRD2	ORPHA:904
HP:0000177	Abnormal upper lip morphology	9275	BCL7B	ORPHA:904
HP:0000177	Abnormal upper lip morphology	26608	TBL2	ORPHA:904
HP:0000177	Abnormal upper lip morphology	653361	NCF1	ORPHA:904
HP:0000177	Abnormal upper lip morphology	135886	TMEM270	ORPHA:904
HP:0000177	Abnormal upper lip morphology	51085	MLXIPL	ORPHA:904
HP:0000177	Abnormal upper lip morphology	51085	MLXIPL	OMIM:194050
HP:0000177	Abnormal upper lip morphology	9031	BAZ1B	ORPHA:904
HP:0000177	Abnormal upper lip morphology	23345	SYNE1	ORPHA:319332
HP:0000177	Abnormal upper lip morphology	9719	ADAMTSL2	OMIM:231050
HP:0000177	Abnormal upper lip morphology	11128	POLR3A	OMIM:264090
HP:0000177	Abnormal upper lip morphology	55719	SLF2	OMIM:620184
HP:0000177	Abnormal upper lip morphology	283209	PGM2L1	OMIM:620191
HP:0000177	Abnormal upper lip morphology	4094	MAF	ORPHA:1272
HP:0000177	Abnormal upper lip morphology	4094	MAF	OMIM:601088
HP:0000177	Abnormal upper lip morphology	9321	TRIP11	OMIM:184260
HP:0000177	Abnormal upper lip morphology	9321	TRIP11	ORPHA:93299
HP:0000177	Abnormal upper lip morphology	5594	MAPK1	OMIM:619087
HP:0000177	Abnormal upper lip morphology	23522	KAT6B	ORPHA:85201
HP:0000177	Abnormal upper lip morphology	55670	PEX26	OMIM:614872
HP:0000177	Abnormal upper lip morphology	5591	PRKDC	OMIM:615966
HP:0000177	Abnormal upper lip morphology	63895	PIEZO2	OMIM:248700
HP:0000177	Abnormal upper lip morphology	81031	SLC2A10	OMIM:208050
HP:0000177	Abnormal upper lip morphology	9652	SKIC3	OMIM:222470
HP:0000177	Abnormal upper lip morphology	2146	EZH2	OMIM:277590
HP:0000177	Abnormal upper lip morphology	2146	EZH2	ORPHA:3447
HP:0000177	Abnormal upper lip morphology	80324	PUS1	ORPHA:2598
HP:0000177	Abnormal upper lip morphology	51067	YARS2	ORPHA:2598
HP:0000177	Abnormal upper lip morphology	701	BUB1B	OMIM:257300
HP:0000177	Abnormal upper lip morphology	64324	NSD1	ORPHA:3447
HP:0000177	Abnormal upper lip morphology	8726	EED	ORPHA:3447
HP:0000177	Abnormal upper lip morphology	23512	SUZ12	ORPHA:3447
HP:0000177	Abnormal upper lip morphology	28962	OSTM1	OMIM:259720
HP:0000177	Abnormal upper lip morphology	55023	PHIP	ORPHA:589905
HP:0000177	Abnormal upper lip morphology	55023	PHIP	OMIM:617991
HP:0000177	Abnormal upper lip morphology	2702	GJA5	OMIM:612474
HP:0000177	Abnormal upper lip morphology	2703	GJA8	OMIM:612474
HP:0000177	Abnormal upper lip morphology	867	CBL	OMIM:613563
HP:0000177	Abnormal upper lip morphology	2245	FGD1	ORPHA:915
HP:0000177	Abnormal upper lip morphology	10664	CTCF	OMIM:615502
HP:0000177	Abnormal upper lip morphology	10664	CTCF	ORPHA:363611
HP:0000177	Abnormal upper lip morphology	10075	HUWE1	OMIM:309590
HP:0000177	Abnormal upper lip morphology	55906	ZC4H2	OMIM:301041
HP:0000177	Abnormal upper lip morphology	55906	ZC4H2	OMIM:314580
HP:0000177	Abnormal upper lip morphology	23394	ADNP	OMIM:615873
HP:0000177	Abnormal upper lip morphology	10586	MAB21L2	OMIM:615877
HP:0000177	Abnormal upper lip morphology	85358	SHANK3	OMIM:606232
HP:0000177	Abnormal upper lip morphology	79650	USB1	OMIM:604173
HP:0000177	Abnormal upper lip morphology	4854	NOTCH3	OMIM:130720
HP:0000177	Abnormal upper lip morphology	5160	PDHA1	OMIM:312170
HP:0000177	Abnormal upper lip morphology	5447	POR	OMIM:207410
HP:0000177	Abnormal upper lip morphology	2263	FGFR2	OMIM:207410
HP:0000177	Abnormal upper lip morphology	169792	GLIS3	OMIM:610199
HP:0000177	Abnormal upper lip morphology	3767	KCNJ11	ORPHA:79134
HP:0000177	Abnormal upper lip morphology	79731	NARS2	ORPHA:79134
HP:0000177	Abnormal upper lip morphology	6833	ABCC8	ORPHA:79134
HP:0000177	Abnormal upper lip morphology	2720	GLB1	ORPHA:79255
HP:0000177	Abnormal upper lip morphology	5053	PAH	ORPHA:2209
HP:0000177	Abnormal upper lip morphology	389827	MYMK	ORPHA:1358
HP:0000177	Abnormal upper lip morphology	101929726	MYMX	ORPHA:1358
HP:0000177	Abnormal upper lip morphology	101929726	MYMX	OMIM:619941
HP:0000177	Abnormal upper lip morphology	84679	SLC9A7	OMIM:301024
HP:0000177	Abnormal upper lip morphology	10735	STAG2	OMIM:301022
HP:0000177	Abnormal upper lip morphology	10265	IRX5	OMIM:611174
HP:0000177	Abnormal upper lip morphology	10352	WARS2	OMIM:617710
HP:0000177	Abnormal upper lip morphology	134701	RIPPLY2	ORPHA:2311
HP:0000177	Abnormal upper lip morphology	10683	DLL3	ORPHA:2311
HP:0000177	Abnormal upper lip morphology	3955	LFNG	ORPHA:2311
HP:0000177	Abnormal upper lip morphology	84667	HES7	ORPHA:2311
HP:0000177	Abnormal upper lip morphology	145873	MESP2	ORPHA:2311
HP:0000177	Abnormal upper lip morphology	5604	MAP2K1	ORPHA:1340
HP:0000177	Abnormal upper lip morphology	5605	MAP2K2	ORPHA:1340
HP:0000177	Abnormal upper lip morphology	3845	KRAS	ORPHA:1340
HP:0000177	Abnormal upper lip morphology	673	BRAF	ORPHA:1340
HP:0000177	Abnormal upper lip morphology	2248	FGF3	ORPHA:2791
HP:0000177	Abnormal upper lip morphology	1000	CDH2	OMIM:618929
HP:0000177	Abnormal upper lip morphology	64093	SMOC1	ORPHA:1106
HP:0000177	Abnormal upper lip morphology	5745	PTH1R	ORPHA:50945
HP:0000177	Abnormal upper lip morphology	128637	TBC1D20	OMIM:615663
HP:0000177	Abnormal upper lip morphology	2313	FLI1	ORPHA:2308
HP:0000177	Abnormal upper lip morphology	60	ACTB	OMIM:243310
HP:0000177	Abnormal upper lip morphology	60	ACTB	ORPHA:2995
HP:0000177	Abnormal upper lip morphology	23476	BRD4	ORPHA:199
HP:0000177	Abnormal upper lip morphology	8243	SMC1A	ORPHA:199
HP:0000177	Abnormal upper lip morphology	6628	SNRPB	OMIM:117650
HP:0000177	Abnormal upper lip morphology	71	ACTG1	OMIM:614583
HP:0000177	Abnormal upper lip morphology	71	ACTG1	ORPHA:2995
HP:0000177	Abnormal upper lip morphology	1213	CLTC	OMIM:617854
HP:0000177	Abnormal upper lip morphology	1861	TOR1A	OMIM:618947
HP:0000177	Abnormal upper lip morphology	4337	MOCS1	OMIM:252150
HP:0000177	Abnormal upper lip morphology	29957	SLC25A24	OMIM:612289
HP:0000177	Abnormal upper lip morphology	4659	PPP1R12A	OMIM:618820
HP:0000177	Abnormal upper lip morphology	91461	PKDCC	OMIM:618821
HP:0000177	Abnormal upper lip morphology	4893	NRAS	OMIM:137550
HP:0000177	Abnormal upper lip morphology	3265	HRAS	OMIM:137550
HP:0000177	Abnormal upper lip morphology	55617	TASP1	OMIM:618950
HP:0000177	Abnormal upper lip morphology	28957	MRPS28	OMIM:618958
HP:0000177	Abnormal upper lip morphology	3832	KIF11	ORPHA:2526
HP:0000177	Abnormal upper lip morphology	3832	KIF11	OMIM:152950
HP:0000177	Abnormal upper lip morphology	5500	PPP1CB	OMIM:617506
HP:0000177	Abnormal upper lip morphology	100506658	OCLN	OMIM:251290
HP:0000177	Abnormal upper lip morphology	113246	C12orf57	OMIM:218340
HP:0000177	Abnormal upper lip morphology	6591	SNAI2	ORPHA:2884
HP:0000177	Abnormal upper lip morphology	3815	KIT	ORPHA:2884
HP:0000177	Abnormal upper lip morphology	9320	TRIP12	OMIM:617752
HP:0000177	Abnormal upper lip morphology	523	ATP6V1A	ORPHA:357074
HP:0000177	Abnormal upper lip morphology	529	ATP6V1E1	ORPHA:357074
HP:0000177	Abnormal upper lip morphology	529	ATP6V1E1	OMIM:617402
HP:0000177	Abnormal upper lip morphology	10020	GNE	OMIM:269921
HP:0000177	Abnormal upper lip morphology	84700	MYO18B	OMIM:616549
HP:0000177	Abnormal upper lip morphology	10225	CD96	ORPHA:1308
HP:0000177	Abnormal upper lip morphology	23529	CLCF1	ORPHA:1545
HP:0000177	Abnormal upper lip morphology	26229	B3GAT3	OMIM:245600
HP:0000177	Abnormal upper lip morphology	1968	EIF2S3	OMIM:300148
HP:0000177	Abnormal upper lip morphology	23404	EXOSC2	OMIM:617763
HP:0000177	Abnormal upper lip morphology	92935	MARS2	OMIM:616430
HP:0000177	Abnormal upper lip morphology	22861	NLRP1	OMIM:615225
HP:0000177	Abnormal upper lip morphology	4281	MID1	ORPHA:2745
HP:0000177	Abnormal upper lip morphology	9181	ARHGEF2	OMIM:617523
HP:0000177	Abnormal upper lip morphology	10982	MAPRE2	ORPHA:2505
HP:0000177	Abnormal upper lip morphology	9653	HS2ST1	OMIM:619194
HP:0000177	Abnormal upper lip morphology	253738	EBF3	OMIM:617330
HP:0000177	Abnormal upper lip morphology	8367	H4C5	OMIM:619950
HP:0000177	Abnormal upper lip morphology	94005	PIGS	OMIM:618143
HP:0000177	Abnormal upper lip morphology	3572	IL6ST	OMIM:619750
HP:0000177	Abnormal upper lip morphology	4683	NBN	OMIM:251260
HP:0000177	Abnormal upper lip morphology	4683	NBN	ORPHA:647
HP:0000177	Abnormal upper lip morphology	51126	NAA20	OMIM:619717
HP:0000177	Abnormal upper lip morphology	26053	AUTS2	OMIM:615834
HP:0000177	Abnormal upper lip morphology	8818	DPM2	ORPHA:329178
HP:0000177	Abnormal upper lip morphology	7707	ZNF148	OMIM:617260
HP:0000177	Abnormal upper lip morphology	1806	DPYD	ORPHA:1675
HP:0000177	Abnormal upper lip morphology	9915	ARNT2	OMIM:615926
HP:0000177	Abnormal upper lip morphology	6925	TCF4	OMIM:610954
HP:0000177	Abnormal upper lip morphology	55343	SLC35C1	ORPHA:99843
HP:0000177	Abnormal upper lip morphology	4626	MYH8	OMIM:158300
HP:0000177	Abnormal upper lip morphology	4256	MGP	OMIM:245150
HP:0000177	Abnormal upper lip morphology	8481	OFD1	OMIM:300804
HP:0000177	Abnormal upper lip morphology	114034	TOE1	OMIM:614969
HP:0000177	Abnormal upper lip morphology	22856	CHSY1	OMIM:605282
HP:0000177	Abnormal upper lip morphology	6792	CDKL5	ORPHA:505652
HP:0000177	Abnormal upper lip morphology	2033	EP300	OMIM:618333
HP:0000177	Abnormal upper lip morphology	5087	PBX1	OMIM:617641
HP:0000177	Abnormal upper lip morphology	8036	SHOC2	ORPHA:2701
HP:0000177	Abnormal upper lip morphology	51025	PAM16	OMIM:613320
HP:0000177	Abnormal upper lip morphology	4858	NOVA2	OMIM:618859
HP:0000177	Abnormal upper lip morphology	7020	TFAP2A	ORPHA:1297
HP:0000177	Abnormal upper lip morphology	2783	GNB2	OMIM:619503
HP:0000177	Abnormal upper lip morphology	7319	UBE2A	ORPHA:163956
HP:0000177	Abnormal upper lip morphology	196528	ARID2	OMIM:617808
HP:0000177	Abnormal upper lip morphology	9343	EFTUD2	OMIM:610536
HP:0000177	Abnormal upper lip morphology	6888	TALDO1	OMIM:606003
HP:0000177	Abnormal upper lip morphology	3720	JARID2	OMIM:620098
HP:0000177	Abnormal upper lip morphology	3192	HNRNPU	ORPHA:238769
HP:0000177	Abnormal upper lip morphology	5898	RALA	OMIM:619311
HP:0000177	Abnormal upper lip morphology	7355	SLC35A2	OMIM:300896
HP:0000177	Abnormal upper lip morphology	6659	SOX4	OMIM:618506
HP:0000177	Abnormal upper lip morphology	79753	SNIP1	OMIM:614501
HP:0000177	Abnormal upper lip morphology	773	CACNA1A	ORPHA:2131
HP:0000177	Abnormal upper lip morphology	6507	SLC1A3	ORPHA:2131
HP:0000177	Abnormal upper lip morphology	477	ATP1A2	ORPHA:2131
HP:0000177	Abnormal upper lip morphology	478	ATP1A3	ORPHA:2131
HP:0000177	Abnormal upper lip morphology	3190	HNRNPK	ORPHA:352665
HP:0000177	Abnormal upper lip morphology	3190	HNRNPK	ORPHA:453504
HP:0000177	Abnormal upper lip morphology	11198	SUPT16H	OMIM:619480
HP:0000177	Abnormal upper lip morphology	9442	MED27	OMIM:619286
HP:0000177	Abnormal upper lip morphology	58499	ZNF462	OMIM:618619
HP:0000177	Abnormal upper lip morphology	10413	YAP1	ORPHA:1473
HP:0000177	Abnormal upper lip morphology	1147	CHUK	OMIM:619339
HP:0000177	Abnormal upper lip morphology	1500	CTNND1	ORPHA:1997
HP:0000177	Abnormal upper lip morphology	999	CDH1	ORPHA:1997
HP:0000177	Abnormal upper lip morphology	10015	PDCD6IP	OMIM:620047
HP:0000177	Abnormal upper lip morphology	5626	PROP1	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	89884	LHX4	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	3170	FOXA2	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	5449	POU1F1	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	8820	HESX1	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	5015	OTX2	ORPHA:95494
HP:0000177	Abnormal upper lip morphology	56975	FAM20C	ORPHA:1832
HP:0000177	Abnormal upper lip morphology	2719	GPC3	OMIM:312870
HP:0000177	Abnormal upper lip morphology	51322	WAC	ORPHA:284169
HP:0000177	Abnormal upper lip morphology	128178	EDARADD	OMIM:224900
HP:0000177	Abnormal upper lip morphology	10913	EDAR	OMIM:224900
HP:0000177	Abnormal upper lip morphology	50801	KCNK4	OMIM:618381
HP:0000177	Abnormal upper lip morphology	10717	AP4B1	ORPHA:280763
HP:0000177	Abnormal upper lip morphology	9179	AP4M1	ORPHA:280763
HP:0000177	Abnormal upper lip morphology	11154	AP4S1	ORPHA:280763
HP:0000177	Abnormal upper lip morphology	23431	AP4E1	ORPHA:280763
HP:0000177	Abnormal upper lip morphology	1896	EDA	OMIM:305100
HP:0000177	Abnormal upper lip morphology	1896	EDA	ORPHA:181
HP:0000177	Abnormal upper lip morphology	80232	WDR26	ORPHA:513456
HP:0000177	Abnormal upper lip morphology	60401	EDA2R	ORPHA:181
HP:0000177	Abnormal upper lip morphology	8294	H4C9	OMIM:619951
HP:0000177	Abnormal upper lip morphology	9739	SETD1A	OMIM:619056
HP:0000177	Abnormal upper lip morphology	1788	DNMT3A	OMIM:615879
HP:0000177	Abnormal upper lip morphology	6929	TCF3	OMIM:619824
HP:0000177	Abnormal upper lip morphology	2629	GBA1	OMIM:608013
HP:0000177	Abnormal upper lip morphology	4131	MAP1B	OMIM:618918
HP:0000177	Abnormal upper lip morphology	9488	PIGB	OMIM:618580
HP:0000177	Abnormal upper lip morphology	3763	KCNJ6	ORPHA:435628
HP:0000177	Abnormal upper lip morphology	3763	KCNJ6	OMIM:614098
HP:0000177	Abnormal upper lip morphology	340533	NEXMIF	OMIM:300912
HP:0000177	Abnormal upper lip morphology	340533	NEXMIF	ORPHA:85277
HP:0000177	Abnormal upper lip morphology	10785	WDR4	OMIM:618346
HP:0000177	Abnormal upper lip morphology	54892	NCAPG2	OMIM:618460
HP:0000177	Abnormal upper lip morphology	4204	MECP2	ORPHA:1762
HP:0000177	Abnormal upper lip morphology	4204	MECP2	OMIM:300260
HP:0000177	Abnormal upper lip morphology	23556	PIGN	ORPHA:2059
HP:0000177	Abnormal upper lip morphology	23556	PIGN	ORPHA:280633
HP:0000177	Abnormal upper lip morphology	92335	STRADA	ORPHA:500533
HP:0000177	Abnormal upper lip morphology	55627	SMPD4	OMIM:618622
HP:0000177	Abnormal upper lip morphology	4897	NRCAM	OMIM:619833
HP:0000177	Abnormal upper lip morphology	81857	MED25	OMIM:616449
HP:0000177	Abnormal upper lip morphology	81857	MED25	ORPHA:464738
HP:0000177	Abnormal upper lip morphology	65062	TMEM237	OMIM:614424
HP:0000177	Abnormal upper lip morphology	89970	RSPRY1	OMIM:616723
HP:0000177	Abnormal upper lip morphology	89970	RSPRY1	ORPHA:457395
HP:0000177	Abnormal upper lip morphology	781	CACNA2D1	OMIM:620149
HP:0000177	Abnormal upper lip morphology	55777	MBD5	ORPHA:228402
HP:0000177	Abnormal upper lip morphology	1436	CSF1R	OMIM:618476
HP:0000177	Abnormal upper lip morphology	3020	H3-3A	OMIM:619720
HP:0000177	Abnormal upper lip morphology	51506	UFC1	OMIM:618076
HP:0000177	Abnormal upper lip morphology	23030	KDM4B	OMIM:619320
HP:0000177	Abnormal upper lip morphology	283489	CHAMP1	OMIM:616579
HP:0000177	Abnormal upper lip morphology	2314	FLII	ORPHA:819
HP:0000177	Abnormal upper lip morphology	23096	IQSEC2	ORPHA:819
HP:0000177	Abnormal upper lip morphology	10743	RAI1	ORPHA:819
HP:0000177	Abnormal upper lip morphology	10522	DEAF1	ORPHA:819
HP:0000177	Abnormal upper lip morphology	10522	DEAF1	OMIM:615828
HP:0000177	Abnormal upper lip morphology	5077	PAX3	ORPHA:896
HP:0000177	Abnormal upper lip morphology	5077	PAX3	ORPHA:894
HP:0000177	Abnormal upper lip morphology	55650	PIGV	OMIM:239300
HP:0000177	Abnormal upper lip morphology	55650	PIGV	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	2260	FGFR1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	28514	DLL1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	2253	FGF8	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	6496	SIX3	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	7050	TGIF1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	4838	NODAL	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	6469	SHH	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	51684	SUFU	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	7546	ZIC2	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	2619	GAS1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	84976	DISP1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	2736	GLI2	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	8928	FOXH1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	5727	PTCH1	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	50937	CDON	ORPHA:280200
HP:0000177	Abnormal upper lip morphology	84992	PIGY	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	84720	PIGO	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	84720	PIGO	OMIM:614749
HP:0000177	Abnormal upper lip morphology	93210	PGAP3	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	93210	PGAP3	OMIM:615716
HP:0000177	Abnormal upper lip morphology	284098	PIGW	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	284098	PIGW	OMIM:616025
HP:0000177	Abnormal upper lip morphology	27315	PGAP2	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	27315	PGAP2	OMIM:614207
HP:0000177	Abnormal upper lip morphology	9487	PIGL	ORPHA:247262
HP:0000177	Abnormal upper lip morphology	129685	TAF8	OMIM:619972
HP:0000177	Abnormal upper lip morphology	2590	GALNT2	OMIM:618885
HP:0000177	Abnormal upper lip morphology	5119	CHMP1A	OMIM:614961
HP:0000177	Abnormal upper lip morphology	9581	PREPL	OMIM:616224
HP:0000177	Abnormal upper lip morphology	23184	MESD	OMIM:618644
HP:0000177	Abnormal upper lip morphology	2770	GNAI1	OMIM:619854
HP:0000177	Abnormal upper lip morphology	91137	SLC25A46	OMIM:616505
HP:0000177	Abnormal upper lip morphology	93627	TBCK	OMIM:616900
HP:0000177	Abnormal upper lip morphology	93627	TBCK	ORPHA:488632
HP:0000177	Abnormal upper lip morphology	26999	CYFIP2	OMIM:618008
HP:0000177	Abnormal upper lip morphology	64359	NXN	ORPHA:1507
HP:0000177	Abnormal upper lip morphology	4920	ROR2	ORPHA:1507
HP:0000177	Abnormal upper lip morphology	4920	ROR2	OMIM:268310
HP:0000177	Abnormal upper lip morphology	546	ATRX	ORPHA:847
HP:0000177	Abnormal upper lip morphology	546	ATRX	OMIM:309580
HP:0000177	Abnormal upper lip morphology	23258	DENND5A	OMIM:617281
HP:0000177	Abnormal upper lip morphology	10943	MSL3	OMIM:301032
HP:0000177	Abnormal upper lip morphology	1760	DMPK	ORPHA:589821
HP:0000177	Abnormal upper lip morphology	4212	MEIS2	OMIM:600987
HP:0000177	Abnormal upper lip morphology	51305	KCNK9	ORPHA:166108
HP:0000177	Abnormal upper lip morphology	51305	KCNK9	OMIM:612292
HP:0000177	Abnormal upper lip morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000177	Abnormal upper lip morphology	5813	PURA	ORPHA:438216
HP:0000177	Abnormal upper lip morphology	5813	PURA	OMIM:616158
HP:0000177	Abnormal upper lip morphology	5813	PURA	ORPHA:314655
HP:0000177	Abnormal upper lip morphology	79633	FAT4	OMIM:615546
HP:0000177	Abnormal upper lip morphology	8642	DCHS1	OMIM:601390
HP:0000177	Abnormal upper lip morphology	2239	GPC4	ORPHA:2662
HP:0000177	Abnormal upper lip morphology	129563	DIS3L2	OMIM:267000
HP:0000177	Abnormal upper lip morphology	5518	PPP2R1A	OMIM:616362
HP:0000177	Abnormal upper lip morphology	5913	RAPSN	OMIM:618388
HP:0000177	Abnormal upper lip morphology	2290	FOXG1	ORPHA:261144
HP:0000177	Abnormal upper lip morphology	10367	MICU1	OMIM:615673
HP:0000177	Abnormal upper lip morphology	51604	PIGT	ORPHA:369837
HP:0000177	Abnormal upper lip morphology	1182	CLCN3	OMIM:619517
HP:0000177	Abnormal upper lip morphology	998	CDC42	ORPHA:487796
HP:0000177	Abnormal upper lip morphology	4329	ALDH6A1	OMIM:614105
HP:0000177	Abnormal upper lip morphology	3211	HOXB1	OMIM:614744
HP:0000177	Abnormal upper lip morphology	259232	NALCN	ORPHA:371364
HP:0000177	Abnormal upper lip morphology	285175	UNC80	ORPHA:371364
HP:0000177	Abnormal upper lip morphology	8314	BAP1	OMIM:619762
HP:0000177	Abnormal upper lip morphology	51124	IER3IP1	OMIM:614231
HP:0000177	Abnormal upper lip morphology	9326	ZNHIT3	OMIM:260565
HP:0000177	Abnormal upper lip morphology	91875	TTC5	OMIM:619244
HP:0000177	Abnormal upper lip morphology	6942	TCF20	OMIM:618430
HP:0000177	Abnormal upper lip morphology	9373	PLAA	ORPHA:521426
HP:0000177	Abnormal upper lip morphology	9373	PLAA	OMIM:617527
HP:0000177	Abnormal upper lip morphology	388015	RTL1	ORPHA:96334
HP:0000177	Abnormal upper lip morphology	8788	DLK1	ORPHA:96334
HP:0000177	Abnormal upper lip morphology	55384	MEG3	ORPHA:96334
HP:0000177	Abnormal upper lip morphology	3756	KCNH1	ORPHA:420561
HP:0000177	Abnormal upper lip morphology	10430	TMEM147	OMIM:620075
HP:0000177	Abnormal upper lip morphology	2535	FZD2	OMIM:164745
HP:0000177	Abnormal upper lip morphology	23219	FBXO28	OMIM:619777
HP:0000177	Abnormal upper lip morphology	6261	RYR1	ORPHA:98905
HP:0000177	Abnormal upper lip morphology	84081	NSRP1	OMIM:620001
HP:0000177	Abnormal upper lip morphology	8813	DPM1	ORPHA:79322
HP:0000177	Abnormal upper lip morphology	2801	GOLGA2	OMIM:620240
HP:0000177	Abnormal upper lip morphology	129285	PPP1R21	OMIM:619383
HP:0000177	Abnormal upper lip morphology	11141	IL1RAPL1	OMIM:300143
HP:0000177	Abnormal upper lip morphology	1917	EEF1A2	OMIM:616393
HP:0000177	Abnormal upper lip morphology	4633	MYL2	OMIM:619424
HP:0000177	Abnormal upper lip morphology	29123	ANKRD11	OMIM:148050
HP:0000177	Abnormal upper lip morphology	5567	PRKACB	OMIM:619143
HP:0000177	Abnormal upper lip morphology	7043	TGFB3	OMIM:615582
HP:0000177	Abnormal upper lip morphology	221927	BRAT1	OMIM:618056
HP:0000177	Abnormal upper lip morphology	4654	MYOD1	OMIM:618975
HP:0000177	Abnormal upper lip morphology	1642	DDB1	OMIM:619426
HP:0000177	Abnormal upper lip morphology	9230	RAB11B	OMIM:617807
HP:0000177	Abnormal upper lip morphology	79813	EHMT1	OMIM:610253
HP:0000177	Abnormal upper lip morphology	23097	CDK19	OMIM:618916
HP:0000177	Abnormal upper lip morphology	7528	YY1	ORPHA:506358
HP:0000177	Abnormal upper lip morphology	6748	SSR4	ORPHA:370927
HP:0000177	Abnormal upper lip morphology	65250	CPLANE1	OMIM:277170
HP:0000177	Abnormal upper lip morphology	153241	CEP120	OMIM:616300
HP:0000177	Abnormal upper lip morphology	9401	RECQL4	OMIM:218600
HP:0000177	Abnormal upper lip morphology	2334	AFF2	OMIM:309548
HP:0000177	Abnormal upper lip morphology	23233	EXOC6B	ORPHA:93359
HP:0000177	Abnormal upper lip morphology	4010	LMX1B	ORPHA:495818
HP:0000177	Abnormal upper lip morphology	6812	STXBP1	ORPHA:495818
HP:0000177	Abnormal upper lip morphology	79971	WLS	OMIM:619648
HP:0000177	Abnormal upper lip morphology	8364	H4C3	OMIM:619758
HP:0000177	Abnormal upper lip morphology	10524	KAT5	OMIM:619103
HP:0000177	Abnormal upper lip morphology	10220	GDF11	OMIM:619122
HP:0000177	Abnormal upper lip morphology	202018	TAPT1	OMIM:616897
HP:0000177	Abnormal upper lip morphology	7341	SUMO1	OMIM:613705
HP:0000177	Abnormal upper lip morphology	4089	SMAD4	ORPHA:2588
HP:0000177	Abnormal upper lip morphology	5979	RET	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	8516	ITGA8	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	26281	FGF20	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	2674	GFRA1	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	7484	WNT9B	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	80000	GREB1L	ORPHA:1848
HP:0000177	Abnormal upper lip morphology	3239	HOXD13	ORPHA:887
HP:0000177	Abnormal upper lip morphology	1723	DHODH	ORPHA:246
HP:0000177	Abnormal upper lip morphology	10262	SF3B4	ORPHA:245
HP:0000177	Abnormal upper lip morphology	1748	DLX4	OMIM:616788
HP:0000177	Abnormal upper lip morphology	4487	MSX1	ORPHA:199302
HP:0000177	Abnormal upper lip morphology	8626	TP63	ORPHA:199302
HP:0000177	Abnormal upper lip morphology	55969	RAB5IF	OMIM:616994
HP:0000177	Abnormal upper lip morphology	340419	RSPO2	OMIM:618021
HP:0000178	Abnormal lower lip morphology	5979	RET	OMIM:162300
HP:0000178	Abnormal lower lip morphology	7528	YY1	ORPHA:506358
HP:0000178	Abnormal lower lip morphology	7528	YY1	OMIM:617557
HP:0000178	Abnormal lower lip morphology	8450	CUL4B	OMIM:300354
HP:0000178	Abnormal lower lip morphology	8450	CUL4B	ORPHA:85293
HP:0000178	Abnormal lower lip morphology	27316	RBMX	OMIM:300238
HP:0000178	Abnormal lower lip morphology	9759	HDAC4	OMIM:619797
HP:0000178	Abnormal lower lip morphology	6228	RPS23	OMIM:617412
HP:0000178	Abnormal lower lip morphology	5894	RAF1	OMIM:611554
HP:0000178	Abnormal lower lip morphology	5894	RAF1	ORPHA:648
HP:0000178	Abnormal lower lip morphology	84282	RNF135	ORPHA:137634
HP:0000178	Abnormal lower lip morphology	5457	POU4F1	ORPHA:314647
HP:0000178	Abnormal lower lip morphology	23261	CAMTA1	ORPHA:314647
HP:0000178	Abnormal lower lip morphology	23261	CAMTA1	OMIM:614756
HP:0000178	Abnormal lower lip morphology	5745	PTH1R	OMIM:600002
HP:0000178	Abnormal lower lip morphology	57520	HECW2	OMIM:617268
HP:0000178	Abnormal lower lip morphology	79639	TMEM53	OMIM:619727
HP:0000178	Abnormal lower lip morphology	4758	NEU1	ORPHA:812
HP:0000178	Abnormal lower lip morphology	1301	COL11A1	OMIM:154780
HP:0000178	Abnormal lower lip morphology	1301	COL11A1	ORPHA:560
HP:0000178	Abnormal lower lip morphology	56992	KIF15	ORPHA:261323
HP:0000178	Abnormal lower lip morphology	23221	RHOBTB2	OMIM:618004
HP:0000178	Abnormal lower lip morphology	57492	ARID1B	OMIM:135900
HP:0000178	Abnormal lower lip morphology	57492	ARID1B	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	24140	FTSJ1	OMIM:309549
HP:0000178	Abnormal lower lip morphology	6601	SMARCC2	OMIM:618362
HP:0000178	Abnormal lower lip morphology	6601	SMARCC2	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	4052	LTBP1	OMIM:619451
HP:0000178	Abnormal lower lip morphology	3899	AFF3	OMIM:619297
HP:0000178	Abnormal lower lip morphology	3643	INSR	OMIM:246200
HP:0000178	Abnormal lower lip morphology	6597	SMARCA4	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	6597	SMARCA4	OMIM:614609
HP:0000178	Abnormal lower lip morphology	6598	SMARCB1	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	6659	SOX4	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	8289	ARID1A	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	8289	ARID1A	OMIM:614607
HP:0000178	Abnormal lower lip morphology	5977	DPF2	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	5977	DPF2	OMIM:618027
HP:0000178	Abnormal lower lip morphology	6602	SMARCD1	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	196528	ARID2	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	6605	SMARCE1	ORPHA:1465
HP:0000178	Abnormal lower lip morphology	6605	SMARCE1	OMIM:616938
HP:0000178	Abnormal lower lip morphology	2770	GNAI1	OMIM:619854
HP:0000178	Abnormal lower lip morphology	2200	FBN1	ORPHA:969
HP:0000178	Abnormal lower lip morphology	2200	FBN1	OMIM:102370
HP:0000178	Abnormal lower lip morphology	4054	LTBP3	ORPHA:969
HP:0000178	Abnormal lower lip morphology	83550	GPR101	ORPHA:963
HP:0000178	Abnormal lower lip morphology	9049	AIP	ORPHA:963
HP:0000178	Abnormal lower lip morphology	2717	GLA	ORPHA:324
HP:0000178	Abnormal lower lip morphology	25942	SIN3A	ORPHA:94065
HP:0000178	Abnormal lower lip morphology	25942	SIN3A	OMIM:613406
HP:0000178	Abnormal lower lip morphology	9839	ZEB2	ORPHA:261552
HP:0000178	Abnormal lower lip morphology	9839	ZEB2	ORPHA:261537
HP:0000178	Abnormal lower lip morphology	10524	KAT5	OMIM:619103
HP:0000178	Abnormal lower lip morphology	8036	SHOC2	ORPHA:2701
HP:0000178	Abnormal lower lip morphology	5500	PPP1CB	ORPHA:2701
HP:0000178	Abnormal lower lip morphology	175	AGA	OMIM:208400
HP:0000178	Abnormal lower lip morphology	3782	KCNN3	OMIM:618658
HP:0000178	Abnormal lower lip morphology	10522	DEAF1	OMIM:615828
HP:0000178	Abnormal lower lip morphology	81620	CDT1	OMIM:613804
HP:0000178	Abnormal lower lip morphology	760	CA2	ORPHA:2785
HP:0000178	Abnormal lower lip morphology	26227	PHGDH	OMIM:256520
HP:0000178	Abnormal lower lip morphology	253738	EBF3	OMIM:617330
HP:0000178	Abnormal lower lip morphology	2517	FUCA1	OMIM:230000
HP:0000178	Abnormal lower lip morphology	1859	DYRK1A	OMIM:614104
HP:0000178	Abnormal lower lip morphology	526	ATP6V1B2	ORPHA:79500
HP:0000178	Abnormal lower lip morphology	10060	ABCC9	OMIM:239850
HP:0000178	Abnormal lower lip morphology	23137	SMC5	OMIM:620185
HP:0000178	Abnormal lower lip morphology	26137	ZBTB20	OMIM:259050
HP:0000178	Abnormal lower lip morphology	55617	TASP1	OMIM:618950
HP:0000178	Abnormal lower lip morphology	23067	SETD1B	OMIM:619000
HP:0000178	Abnormal lower lip morphology	7358	UGDH	OMIM:618792
HP:0000178	Abnormal lower lip morphology	92335	STRADA	OMIM:611087
HP:0000178	Abnormal lower lip morphology	9968	MED12	OMIM:305450
HP:0000178	Abnormal lower lip morphology	2799	GNS	OMIM:252940
HP:0000178	Abnormal lower lip morphology	139285	AMER1	OMIM:300373
HP:0000178	Abnormal lower lip morphology	1893	ECM1	ORPHA:530
HP:0000178	Abnormal lower lip morphology	3423	IDS	OMIM:309900
HP:0000178	Abnormal lower lip morphology	54187	NANS	OMIM:610442
HP:0000178	Abnormal lower lip morphology	22800	RRAS2	ORPHA:648
HP:0000178	Abnormal lower lip morphology	867	CBL	ORPHA:648
HP:0000178	Abnormal lower lip morphology	8216	LZTR1	ORPHA:648
HP:0000178	Abnormal lower lip morphology	6016	RIT1	ORPHA:648
HP:0000178	Abnormal lower lip morphology	6237	RRAS	ORPHA:648
HP:0000178	Abnormal lower lip morphology	22808	MRAS	ORPHA:648
HP:0000178	Abnormal lower lip morphology	3845	KRAS	ORPHA:648
HP:0000178	Abnormal lower lip morphology	200734	SPRED2	ORPHA:648
HP:0000178	Abnormal lower lip morphology	6654	SOS1	ORPHA:648
HP:0000178	Abnormal lower lip morphology	6655	SOS2	ORPHA:648
HP:0000178	Abnormal lower lip morphology	5781	PTPN11	ORPHA:648
HP:0000178	Abnormal lower lip morphology	5922	RASA2	ORPHA:648
HP:0000178	Abnormal lower lip morphology	6513	SLC2A1	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	8831	SYNGAP1	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	1173	AP2M1	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	6323	SCN1A	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	340533	NEXMIF	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	1106	CHD2	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	6529	SLC6A1	ORPHA:1942
HP:0000178	Abnormal lower lip morphology	4668	NAGA	OMIM:609242
HP:0000178	Abnormal lower lip morphology	2316	FLNA	ORPHA:555877
HP:0000178	Abnormal lower lip morphology	27077	B9D1	OMIM:617120
HP:0000178	Abnormal lower lip morphology	3832	KIF11	OMIM:152950
HP:0000178	Abnormal lower lip morphology	55331	ACER3	OMIM:617762
HP:0000178	Abnormal lower lip morphology	2702	GJA5	OMIM:612474
HP:0000178	Abnormal lower lip morphology	2703	GJA8	OMIM:612474
HP:0000178	Abnormal lower lip morphology	5696	PSMB8	OMIM:256040
HP:0000178	Abnormal lower lip morphology	10075	HUWE1	OMIM:309590
HP:0000178	Abnormal lower lip morphology	3664	IRF6	OMIM:119300
HP:0000178	Abnormal lower lip morphology	3664	IRF6	ORPHA:888
HP:0000178	Abnormal lower lip morphology	3664	IRF6	OMIM:119500
HP:0000178	Abnormal lower lip morphology	7403	KDM6A	OMIM:300867
HP:0000178	Abnormal lower lip morphology	57822	GRHL3	ORPHA:888
HP:0000178	Abnormal lower lip morphology	3480	IGF1R	ORPHA:73273
HP:0000178	Abnormal lower lip morphology	7051	TGM1	OMIM:242300
HP:0000178	Abnormal lower lip morphology	7051	TGM1	ORPHA:313
HP:0000178	Abnormal lower lip morphology	26235	FBXL4	OMIM:615471
HP:0000178	Abnormal lower lip morphology	30000	TNPO2	OMIM:619556
HP:0000178	Abnormal lower lip morphology	54517	PUS7	OMIM:618342
HP:0000178	Abnormal lower lip morphology	23241	PACS2	OMIM:618067
HP:0000178	Abnormal lower lip morphology	26128	KIFBP	OMIM:609460
HP:0000178	Abnormal lower lip morphology	128178	EDARADD	OMIM:614940
HP:0000178	Abnormal lower lip morphology	128178	EDARADD	OMIM:614941
HP:0000178	Abnormal lower lip morphology	128178	EDARADD	OMIM:224900
HP:0000178	Abnormal lower lip morphology	4204	MECP2	ORPHA:1762
HP:0000178	Abnormal lower lip morphology	23394	ADNP	OMIM:615873
HP:0000178	Abnormal lower lip morphology	9820	CUL7	ORPHA:2616
HP:0000178	Abnormal lower lip morphology	23363	OBSL1	ORPHA:2616
HP:0000178	Abnormal lower lip morphology	83987	CCDC8	ORPHA:2616
HP:0000178	Abnormal lower lip morphology	57539	WDR35	OMIM:613610
HP:0000178	Abnormal lower lip morphology	57539	WDR35	ORPHA:1515
HP:0000178	Abnormal lower lip morphology	81857	MED25	OMIM:616449
HP:0000178	Abnormal lower lip morphology	81857	MED25	ORPHA:464738
HP:0000178	Abnormal lower lip morphology	55624	POMGNT1	OMIM:253280
HP:0000178	Abnormal lower lip morphology	55777	MBD5	ORPHA:228402
HP:0000178	Abnormal lower lip morphology	55777	MBD5	OMIM:156200
HP:0000178	Abnormal lower lip morphology	79813	EHMT1	ORPHA:96147
HP:0000178	Abnormal lower lip morphology	79813	EHMT1	OMIM:610253
HP:0000178	Abnormal lower lip morphology	2629	GBA1	OMIM:608013
HP:0000178	Abnormal lower lip morphology	51099	ABHD5	OMIM:275630
HP:0000178	Abnormal lower lip morphology	5308	PITX2	ORPHA:782
HP:0000178	Abnormal lower lip morphology	2296	FOXC1	ORPHA:782
HP:0000178	Abnormal lower lip morphology	57465	TBC1D24	OMIM:220500
HP:0000178	Abnormal lower lip morphology	116931	MED12L	OMIM:618872
HP:0000178	Abnormal lower lip morphology	91179	SCARF2	OMIM:600920
HP:0000178	Abnormal lower lip morphology	3020	H3-3A	OMIM:619720
HP:0000178	Abnormal lower lip morphology	80816	ASXL3	OMIM:615485
HP:0000178	Abnormal lower lip morphology	80816	ASXL3	ORPHA:352577
HP:0000178	Abnormal lower lip morphology	283489	CHAMP1	OMIM:616579
HP:0000178	Abnormal lower lip morphology	23384	SPECC1L	ORPHA:1519
HP:0000178	Abnormal lower lip morphology	112752	IFT43	ORPHA:1515
HP:0000178	Abnormal lower lip morphology	112752	IFT43	OMIM:614099
HP:0000178	Abnormal lower lip morphology	51098	IFT52	ORPHA:1515
HP:0000178	Abnormal lower lip morphology	55764	IFT122	ORPHA:1515
HP:0000178	Abnormal lower lip morphology	55764	IFT122	OMIM:218330
HP:0000178	Abnormal lower lip morphology	57728	WDR19	ORPHA:1515
HP:0000178	Abnormal lower lip morphology	4952	OCRL	ORPHA:534
HP:0000178	Abnormal lower lip morphology	29957	SLC25A24	ORPHA:2963
HP:0000178	Abnormal lower lip morphology	29957	SLC25A24	OMIM:612289
HP:0000178	Abnormal lower lip morphology	6197	RPS6KA3	OMIM:303600
HP:0000178	Abnormal lower lip morphology	6197	RPS6KA3	ORPHA:276630
HP:0000178	Abnormal lower lip morphology	6197	RPS6KA3	ORPHA:192
HP:0000178	Abnormal lower lip morphology	6197	RPS6KA3	OMIM:300844
HP:0000178	Abnormal lower lip morphology	5980	REV3L	ORPHA:570
HP:0000178	Abnormal lower lip morphology	23129	PLXND1	ORPHA:570
HP:0000178	Abnormal lower lip morphology	1896	EDA	OMIM:305100
HP:0000178	Abnormal lower lip morphology	1896	EDA	ORPHA:181
HP:0000178	Abnormal lower lip morphology	284058	KANSL1	ORPHA:363958
HP:0000178	Abnormal lower lip morphology	284058	KANSL1	ORPHA:363965
HP:0000178	Abnormal lower lip morphology	284058	KANSL1	OMIM:610443
HP:0000178	Abnormal lower lip morphology	10265	IRX5	OMIM:611174
HP:0000178	Abnormal lower lip morphology	80204	FBXO11	OMIM:618089
HP:0000178	Abnormal lower lip morphology	7021	TFAP2B	ORPHA:46627
HP:0000178	Abnormal lower lip morphology	2068	ERCC2	ORPHA:1466
HP:0000178	Abnormal lower lip morphology	2067	ERCC1	ORPHA:1466
HP:0000178	Abnormal lower lip morphology	2074	ERCC6	ORPHA:1466
HP:0000178	Abnormal lower lip morphology	2073	ERCC5	ORPHA:1466
HP:0000178	Abnormal lower lip morphology	1009	CDH11	OMIM:619736
HP:0000178	Abnormal lower lip morphology	546	ATRX	ORPHA:847
HP:0000178	Abnormal lower lip morphology	6792	CDKL5	ORPHA:505652
HP:0000178	Abnormal lower lip morphology	23258	DENND5A	OMIM:617281
HP:0000178	Abnormal lower lip morphology	9509	ADAMTS2	OMIM:225410
HP:0000178	Abnormal lower lip morphology	1193	CLIC2	ORPHA:324410
HP:0000178	Abnormal lower lip morphology	4613	MYCN	OMIM:164280
HP:0000178	Abnormal lower lip morphology	7020	TFAP2A	ORPHA:1297
HP:0000178	Abnormal lower lip morphology	6638	SNRPN	ORPHA:177907
HP:0000178	Abnormal lower lip morphology	4247	MGAT2	OMIM:212066
HP:0000178	Abnormal lower lip morphology	151516	ASPRV1	ORPHA:313
HP:0000178	Abnormal lower lip morphology	242	ALOX12B	ORPHA:313
HP:0000178	Abnormal lower lip morphology	242	ALOX12B	OMIM:242100
HP:0000178	Abnormal lower lip morphology	126410	CYP4F22	ORPHA:313
HP:0000178	Abnormal lower lip morphology	6820	SULT2B1	ORPHA:313
HP:0000178	Abnormal lower lip morphology	26154	ABCA12	ORPHA:313
HP:0000178	Abnormal lower lip morphology	26154	ABCA12	OMIM:242500
HP:0000178	Abnormal lower lip morphology	643418	LIPN	ORPHA:313
HP:0000178	Abnormal lower lip morphology	59344	ALOXE3	ORPHA:313
HP:0000178	Abnormal lower lip morphology	59344	ALOXE3	OMIM:242100
HP:0000178	Abnormal lower lip morphology	348938	NIPAL4	ORPHA:313
HP:0000178	Abnormal lower lip morphology	121214	SDR9C7	ORPHA:313
HP:0000178	Abnormal lower lip morphology	79718	TBL1XR1	ORPHA:487825
HP:0000178	Abnormal lower lip morphology	79718	TBL1XR1	OMIM:602342
HP:0000178	Abnormal lower lip morphology	57167	SALL4	ORPHA:233
HP:0000178	Abnormal lower lip morphology	9935	MAFB	ORPHA:233
HP:0000178	Abnormal lower lip morphology	1123	CHN1	ORPHA:233
HP:0000178	Abnormal lower lip morphology	6611	SMS	ORPHA:3063
HP:0000178	Abnormal lower lip morphology	2290	FOXG1	ORPHA:261144
HP:0000178	Abnormal lower lip morphology	10847	SRCAP	OMIM:619595
HP:0000178	Abnormal lower lip morphology	56006	SMG9	OMIM:616920
HP:0000178	Abnormal lower lip morphology	1909	EDNRA	OMIM:616367
HP:0000178	Abnormal lower lip morphology	6804	STX1A	ORPHA:904
HP:0000178	Abnormal lower lip morphology	7461	CLIP2	ORPHA:904
HP:0000178	Abnormal lower lip morphology	84277	DNAJC30	ORPHA:904
HP:0000178	Abnormal lower lip morphology	8468	FKBP6	ORPHA:904
HP:0000178	Abnormal lower lip morphology	5982	RFC2	ORPHA:904
HP:0000178	Abnormal lower lip morphology	2969	GTF2I	ORPHA:904
HP:0000178	Abnormal lower lip morphology	3984	LIMK1	ORPHA:904
HP:0000178	Abnormal lower lip morphology	9569	GTF2IRD1	ORPHA:904
HP:0000178	Abnormal lower lip morphology	155382	VPS37D	ORPHA:904
HP:0000178	Abnormal lower lip morphology	155368	METTL27	ORPHA:904
HP:0000178	Abnormal lower lip morphology	114049	BUD23	ORPHA:904
HP:0000178	Abnormal lower lip morphology	7458	EIF4H	ORPHA:904
HP:0000178	Abnormal lower lip morphology	84163	GTF2IRD2	ORPHA:904
HP:0000178	Abnormal lower lip morphology	9275	BCL7B	ORPHA:904
HP:0000178	Abnormal lower lip morphology	26608	TBL2	ORPHA:904
HP:0000178	Abnormal lower lip morphology	653361	NCF1	ORPHA:904
HP:0000178	Abnormal lower lip morphology	135886	TMEM270	ORPHA:904
HP:0000178	Abnormal lower lip morphology	51085	MLXIPL	ORPHA:904
HP:0000178	Abnormal lower lip morphology	9031	BAZ1B	ORPHA:904
HP:0000178	Abnormal lower lip morphology	2006	ELN	ORPHA:904
HP:0000178	Abnormal lower lip morphology	85440	DOCK7	ORPHA:411986
HP:0000178	Abnormal lower lip morphology	85440	DOCK7	OMIM:615859
HP:0000178	Abnormal lower lip morphology	3425	IDUA	ORPHA:93474
HP:0000178	Abnormal lower lip morphology	3425	IDUA	ORPHA:93473
HP:0000178	Abnormal lower lip morphology	6134	RPL10	ORPHA:459070
HP:0000178	Abnormal lower lip morphology	10913	EDAR	OMIM:224900
HP:0000178	Abnormal lower lip morphology	6595	SMARCA2	ORPHA:3051
HP:0000178	Abnormal lower lip morphology	6595	SMARCA2	OMIM:601358
HP:0000178	Abnormal lower lip morphology	4893	NRAS	OMIM:137550
HP:0000178	Abnormal lower lip morphology	3265	HRAS	OMIM:137550
HP:0000178	Abnormal lower lip morphology	60401	EDA2R	ORPHA:181
HP:0000178	Abnormal lower lip morphology	54828	BCAS3	OMIM:619641
HP:0000178	Abnormal lower lip morphology	54870	QRICH1	OMIM:617982
HP:0000178	Abnormal lower lip morphology	56098	PCDHGC4	OMIM:619880
HP:0000178	Abnormal lower lip morphology	53335	BCL11A	OMIM:617101
HP:0000178	Abnormal lower lip morphology	57688	ZSWIM6	OMIM:617865
HP:0000178	Abnormal lower lip morphology	4784	NFIX	OMIM:614753
HP:0000178	Abnormal lower lip morphology	4190	MDH1	OMIM:618959
HP:0000178	Abnormal lower lip morphology	57192	MCOLN1	ORPHA:578
HP:0000178	Abnormal lower lip morphology	2273	FHL1	OMIM:300280
HP:0000178	Abnormal lower lip morphology	55691	FRMD4A	OMIM:616819
HP:0000178	Abnormal lower lip morphology	3756	KCNH1	ORPHA:420561
HP:0000178	Abnormal lower lip morphology	10430	TMEM147	OMIM:620075
HP:0000178	Abnormal lower lip morphology	5080	PAX6	ORPHA:893
HP:0000178	Abnormal lower lip morphology	627	BDNF	ORPHA:893
HP:0000178	Abnormal lower lip morphology	7490	WT1	ORPHA:893
HP:0000178	Abnormal lower lip morphology	7030	TFE3	OMIM:301066
HP:0000178	Abnormal lower lip morphology	79989	IFT56	OMIM:619534
HP:0000178	Abnormal lower lip morphology	650	BMP2	OMIM:617877
HP:0000178	Abnormal lower lip morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000178	Abnormal lower lip morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000178	Abnormal lower lip morphology	84700	MYO18B	OMIM:616549
HP:0000178	Abnormal lower lip morphology	23389	MED13L	OMIM:616789
HP:0000178	Abnormal lower lip morphology	138050	HGSNAT	OMIM:252930
HP:0000178	Abnormal lower lip morphology	3778	KCNMA1	OMIM:618729
HP:0000178	Abnormal lower lip morphology	3339	HSPG2	ORPHA:800
HP:0000178	Abnormal lower lip morphology	1917	EEF1A2	OMIM:616393
HP:0000178	Abnormal lower lip morphology	22907	DHX30	OMIM:617804
HP:0000178	Abnormal lower lip morphology	2245	FGD1	ORPHA:915
HP:0000178	Abnormal lower lip morphology	84168	ANTXR1	ORPHA:2067
HP:0000178	Abnormal lower lip morphology	58508	KMT2C	OMIM:617768
HP:0000178	Abnormal lower lip morphology	6664	SOX11	OMIM:615866
HP:0000178	Abnormal lower lip morphology	4487	MSX1	ORPHA:2228
HP:0000178	Abnormal lower lip morphology	9487	PIGL	OMIM:280000
HP:0000178	Abnormal lower lip morphology	9653	HS2ST1	OMIM:619194
HP:0000178	Abnormal lower lip morphology	79228	THOC6	ORPHA:363444
HP:0000178	Abnormal lower lip morphology	23556	PIGN	ORPHA:280633
HP:0000178	Abnormal lower lip morphology	90417	KNSTRN	OMIM:613328
HP:0000178	Abnormal lower lip morphology	90417	KNSTRN	ORPHA:221139
HP:0000178	Abnormal lower lip morphology	5293	PIK3CD	OMIM:613328
HP:0000178	Abnormal lower lip morphology	5293	PIK3CD	ORPHA:221139
HP:0010392	Abnormality of the distal phalanx of the 5th toe	3782	KCNN3	OMIM:618658
HP:0010392	Abnormality of the distal phalanx of the 5th toe	57492	ARID1B	OMIM:135900
HP:0010393	Abnormality of the middle phalanx of the 5th toe	9241	NOG	OMIM:186500
HP:0010390	Triangular shaped phalanges of the 5th toe	9241	NOG	OMIM:186500
HP:0007338	Hypermetric saccades	55187	VPS13D	OMIM:607317
HP:0007338	Hypermetric saccades	55187	VPS13D	ORPHA:95434
HP:0007338	Hypermetric saccades	10935	PRDX3	OMIM:619862
HP:0007338	Hypermetric saccades	2911	GRM1	OMIM:617691
HP:0007338	Hypermetric saccades	7515	XRCC1	OMIM:617633
HP:0007338	Hypermetric saccades	54834	GDAP2	OMIM:618369
HP:0007338	Hypermetric saccades	1200	TPP1	OMIM:609270
HP:0007338	Hypermetric saccades	3781	KCNN2	OMIM:619724
HP:0007338	Hypermetric saccades	339453	TMEM240	OMIM:607454
HP:0007338	Hypermetric saccades	55129	ANO10	OMIM:613728
HP:0007338	Hypermetric saccades	27072	VPS41	ORPHA:95434
HP:0007338	Hypermetric saccades	6310	ATXN1	ORPHA:98755
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:604004
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:613925
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:613926
HP:0007341	Diffuse swelling of cerebral white matter	23209	MLC1	OMIM:604004
HP:0007343	Abnormal morphology of the limbic system	2263	FGFR2	OMIM:101200
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	ORPHA:261537
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	ORPHA:261552
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	OMIM:235730
HP:0007343	Abnormal morphology of the limbic system	23230	VPS13A	ORPHA:2388
HP:0007343	Abnormal morphology of the limbic system	7025	NR2F1	ORPHA:401777
HP:0007343	Abnormal morphology of the limbic system	10815	CPLX1	ORPHA:352582
HP:0007343	Abnormal morphology of the limbic system	57465	TBC1D24	ORPHA:352582
HP:0007343	Abnormal morphology of the limbic system	2902	GRIN1	ORPHA:208447
HP:0007343	Abnormal morphology of the limbic system	23499	MACF1	ORPHA:572013
HP:0007343	Abnormal morphology of the limbic system	387119	CEP85L	ORPHA:572013
HP:0007343	Abnormal morphology of the limbic system	7846	TUBA1A	ORPHA:171680
HP:0007343	Abnormal morphology of the limbic system	10381	TUBB3	ORPHA:300570
HP:0007343	Abnormal morphology of the limbic system	5888	RAD51	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	10126	DNAL4	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	9423	NTN1	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	1630	DCC	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	56896	DPYSL5	OMIM:619435
HP:0007343	Abnormal morphology of the limbic system	6335	SCN9A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6326	SCN2A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	2554	GABRA1	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6323	SCN1A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6324	SCN1B	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	57526	PCDH19	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	2566	GABRG2	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	23030	KDM4B	OMIM:619320
HP:0007343	Abnormal morphology of the limbic system	1182	CLCN3	OMIM:619517
HP:0007343	Abnormal morphology of the limbic system	4522	MTHFD1	OMIM:617780
HP:0007343	Abnormal morphology of the limbic system	10617	STAMBP	OMIM:614261
HP:0007343	Abnormal morphology of the limbic system	2009	EML1	OMIM:600348
HP:0007343	Abnormal morphology of the limbic system	79587	CARS2	ORPHA:477774
HP:0007343	Abnormal morphology of the limbic system	28962	OSTM1	ORPHA:85179
HP:0007343	Abnormal morphology of the limbic system	478	ATP1A3	OMIM:619606
HP:0007343	Abnormal morphology of the limbic system	738	VPS51	OMIM:618606
HP:0007343	Abnormal morphology of the limbic system	7355	SLC35A2	ORPHA:356961
HP:0007343	Abnormal morphology of the limbic system	54820	NDE1	ORPHA:2177
HP:0007343	Abnormal morphology of the limbic system	6925	TCF4	OMIM:610954
HP:0007343	Abnormal morphology of the limbic system	5457	POU4F1	ORPHA:314647
HP:0007343	Abnormal morphology of the limbic system	6900	CNTN2	OMIM:615400
HP:0007343	Abnormal morphology of the limbic system	11023	VAX1	OMIM:614402
HP:0007343	Abnormal morphology of the limbic system	10695	CNPY3	OMIM:617929
HP:0007343	Abnormal morphology of the limbic system	23261	CAMTA1	OMIM:614756
HP:0007343	Abnormal morphology of the limbic system	100151683	RNU4ATAC	ORPHA:353298
HP:0007343	Abnormal morphology of the limbic system	2917	GRM7	OMIM:618922
HP:0007343	Abnormal morphology of the limbic system	57094	CPA6	OMIM:614418
HP:0007343	Abnormal morphology of the limbic system	29998	BICRA	OMIM:619325
HP:0007343	Abnormal morphology of the limbic system	4750	NEK1	OMIM:617892
HP:0007343	Abnormal morphology of the limbic system	10347	ABCA7	OMIM:608907
HP:0007344	Atrophy/Degeneration involving the spinal cord	1130	LYST	ORPHA:167
HP:0007344	Atrophy/Degeneration involving the spinal cord	23064	SETX	OMIM:602433
HP:0007344	Atrophy/Degeneration involving the spinal cord	6687	SPG7	ORPHA:35689
HP:0007344	Atrophy/Degeneration involving the spinal cord	5611	DNAJC3	ORPHA:445062
HP:0007344	Atrophy/Degeneration involving the spinal cord	4524	MTHFR	ORPHA:395
HP:0007344	Atrophy/Degeneration involving the spinal cord	10908	PNPLA6	ORPHA:139480
HP:0007344	Atrophy/Degeneration involving the spinal cord	10908	PNPLA6	OMIM:612020
HP:0007344	Atrophy/Degeneration involving the spinal cord	79152	FA2H	ORPHA:329308
HP:0007344	Atrophy/Degeneration involving the spinal cord	215	ABCD1	ORPHA:139399
HP:0007344	Atrophy/Degeneration involving the spinal cord	9420	CYP7B1	ORPHA:100986
HP:0007344	Atrophy/Degeneration involving the spinal cord	22948	CCT5	OMIM:256840
HP:0007344	Atrophy/Degeneration involving the spinal cord	80208	SPG11	ORPHA:2822
HP:0007344	Atrophy/Degeneration involving the spinal cord	22880	MORC2	ORPHA:466768
HP:0007344	Atrophy/Degeneration involving the spinal cord	25974	MMACHC	ORPHA:79282
HP:0007344	Atrophy/Degeneration involving the spinal cord	5832	ALDH18A1	ORPHA:447757
HP:0007344	Atrophy/Degeneration involving the spinal cord	4001	LMNB1	ORPHA:99027
HP:0007344	Atrophy/Degeneration involving the spinal cord	5428	POLG	OMIM:607459
HP:0007344	Atrophy/Degeneration involving the spinal cord	5428	POLG	ORPHA:70595
HP:0007344	Atrophy/Degeneration involving the spinal cord	56652	TWNK	OMIM:607459
HP:0007344	Atrophy/Degeneration involving the spinal cord	56652	TWNK	ORPHA:70595
HP:0007344	Atrophy/Degeneration involving the spinal cord	2670	GFAP	ORPHA:363722
HP:0007344	Atrophy/Degeneration involving the spinal cord	4747	NEFL	ORPHA:101085
HP:0007344	Atrophy/Degeneration involving the spinal cord	5297	PI4KA	OMIM:619621
HP:0007344	Atrophy/Degeneration involving the spinal cord	2395	FXN	ORPHA:95
HP:0000180	Lobulated tongue	65250	CPLANE1	OMIM:277170
HP:0000180	Lobulated tongue	65250	CPLANE1	ORPHA:2754
HP:0000180	Lobulated tongue	54903	MKS1	OMIM:249000
HP:0000180	Lobulated tongue	153241	CEP120	OMIM:616300
HP:0000180	Lobulated tongue	26005	C2CD3	ORPHA:434179
HP:0000180	Lobulated tongue	26005	C2CD3	OMIM:615948
HP:0000180	Lobulated tongue	83479	DDX59	OMIM:174300
HP:0000180	Lobulated tongue	9851	KIAA0753	OMIM:617127
HP:0000180	Lobulated tongue	9851	KIAA0753	ORPHA:2754
HP:0000180	Lobulated tongue	4208	MEF2C	OMIM:613443
HP:0000180	Lobulated tongue	8481	OFD1	OMIM:311200
HP:0000180	Lobulated tongue	8481	OFD1	ORPHA:2750
HP:0000180	Lobulated tongue	8481	OFD1	ORPHA:2754
HP:0000180	Lobulated tongue	79005	SCNM1	OMIM:620107
HP:0000180	Lobulated tongue	26123	TCTN3	OMIM:614815
HP:0000180	Lobulated tongue	26123	TCTN3	OMIM:258860
HP:0000180	Lobulated tongue	26123	TCTN3	ORPHA:2754
HP:0000180	Lobulated tongue	79583	TMEM231	ORPHA:2752
HP:0000180	Lobulated tongue	10210	TOPORS	ORPHA:2754
HP:0000180	Lobulated tongue	5147	PDE6D	ORPHA:2754
HP:0000180	Lobulated tongue	51259	TMEM216	ORPHA:2754
HP:0000180	Lobulated tongue	317662	FAM149B1	ORPHA:2754
HP:0000180	Lobulated tongue	374654	KIF7	ORPHA:2754
HP:0000182	Movement abnormality of the tongue	55149	MTPAP	ORPHA:254343
HP:0000182	Movement abnormality of the tongue	10382	TUBB4A	ORPHA:98805
HP:0000182	Movement abnormality of the tongue	2548	GAA	ORPHA:308552
HP:0000182	Movement abnormality of the tongue	23400	ATP13A2	ORPHA:306674
HP:0000182	Movement abnormality of the tongue	57679	ALS2	OMIM:205100
HP:0000182	Movement abnormality of the tongue	57679	ALS2	OMIM:606353
HP:0000182	Movement abnormality of the tongue	79628	SH3TC2	ORPHA:99949
HP:0000182	Movement abnormality of the tongue	1906	EDN1	ORPHA:137888
HP:0000182	Movement abnormality of the tongue	5332	PLCB4	ORPHA:137888
HP:0000182	Movement abnormality of the tongue	2773	GNAI3	ORPHA:137888
HP:0000182	Movement abnormality of the tongue	81846	SBF2	ORPHA:99956
HP:0000182	Movement abnormality of the tongue	80144	FRAS1	OMIM:219000
HP:0000182	Movement abnormality of the tongue	10755	GIPC1	ORPHA:98897
HP:0000182	Movement abnormality of the tongue	100996717	NOTCH2NLC	ORPHA:98897
HP:0000183	Difficulty in tongue movements	2548	GAA	ORPHA:308552
HP:0000183	Difficulty in tongue movements	23400	ATP13A2	ORPHA:306674
HP:0000183	Difficulty in tongue movements	57679	ALS2	OMIM:205100
HP:0000183	Difficulty in tongue movements	57679	ALS2	OMIM:606353
HP:0000183	Difficulty in tongue movements	79628	SH3TC2	ORPHA:99949
HP:0000183	Difficulty in tongue movements	1906	EDN1	ORPHA:137888
HP:0000183	Difficulty in tongue movements	5332	PLCB4	ORPHA:137888
HP:0000183	Difficulty in tongue movements	2773	GNAI3	ORPHA:137888
HP:0000183	Difficulty in tongue movements	81846	SBF2	ORPHA:99956
HP:0000183	Difficulty in tongue movements	80144	FRAS1	OMIM:219000
HP:0000183	Difficulty in tongue movements	10755	GIPC1	ORPHA:98897
HP:0000183	Difficulty in tongue movements	100996717	NOTCH2NLC	ORPHA:98897
HP:0000185	Cleft soft palate	9968	MED12	OMIM:301068
HP:0000185	Cleft soft palate	699	BUB1	OMIM:620183
HP:0000185	Cleft soft palate	4488	MSX2	OMIM:604757
HP:0000185	Cleft soft palate	8367	H4C5	OMIM:619950
HP:0000185	Cleft soft palate	6628	SNRPB	OMIM:117650
HP:0000185	Cleft soft palate	1859	DYRK1A	ORPHA:268261
HP:0000185	Cleft soft palate	6949	TCOF1	OMIM:154500
HP:0000185	Cleft soft palate	64359	NXN	OMIM:618529
HP:0000185	Cleft soft palate	1280	COL2A1	ORPHA:93316
HP:0000185	Cleft soft palate	79005	SCNM1	OMIM:620107
HP:0000185	Cleft soft palate	6135	RPL11	ORPHA:124
HP:0000185	Cleft soft palate	6138	RPL15	ORPHA:124
HP:0000185	Cleft soft palate	6229	RPS24	ORPHA:124
HP:0000185	Cleft soft palate	6125	RPL5	ORPHA:124
HP:0000185	Cleft soft palate	6204	RPS10	ORPHA:124
HP:0000185	Cleft soft palate	6224	RPS20	ORPHA:124
HP:0000185	Cleft soft palate	6165	RPL35A	ORPHA:124
HP:0000185	Cleft soft palate	2623	GATA1	ORPHA:124
HP:0000185	Cleft soft palate	6223	RPS19	ORPHA:124
HP:0000185	Cleft soft palate	6232	RPS27	ORPHA:124
HP:0000185	Cleft soft palate	6231	RPS26	ORPHA:124
HP:0000185	Cleft soft palate	11224	RPL35	ORPHA:124
HP:0000185	Cleft soft palate	6160	RPL31	ORPHA:124
HP:0000185	Cleft soft palate	6218	RPS17	ORPHA:124
HP:0000185	Cleft soft palate	6201	RPS7	ORPHA:124
HP:0000185	Cleft soft palate	6155	RPL27	ORPHA:124
HP:0000185	Cleft soft palate	6154	RPL26	ORPHA:124
HP:0000185	Cleft soft palate	6210	RPS15A	ORPHA:124
HP:0000185	Cleft soft palate	90121	TSR2	ORPHA:124
HP:0000185	Cleft soft palate	6141	RPL18	ORPHA:124
HP:0000185	Cleft soft palate	6235	RPS29	ORPHA:124
HP:0000185	Cleft soft palate	6234	RPS28	ORPHA:124
HP:0000185	Cleft soft palate	51816	ADA2	ORPHA:124
HP:0000185	Cleft soft palate	83479	DDX59	ORPHA:2919
HP:0000185	Cleft soft palate	1855	DVL1	OMIM:616331
HP:0000185	Cleft soft palate	7043	TGFB3	OMIM:615582
HP:0000185	Cleft soft palate	8882	ZPR1	OMIM:619321
HP:0000185	Cleft soft palate	2783	GNB2	OMIM:619503
HP:0000185	Cleft soft palate	55033	FKBP14	OMIM:614557
HP:0000185	Cleft soft palate	6602	SMARCD1	OMIM:618779
HP:0000185	Cleft soft palate	60386	SLC25A19	ORPHA:99742
HP:0000185	Cleft soft palate	7314	UBB	ORPHA:99771
HP:0000185	Cleft soft palate	57822	GRHL3	ORPHA:99771
HP:0000185	Cleft soft palate	8626	TP63	ORPHA:69085
HP:0000185	Cleft soft palate	51305	KCNK9	OMIM:612292
HP:0000185	Cleft soft palate	4841	NONO	OMIM:300967
HP:0000185	Cleft soft palate	246329	STAC3	ORPHA:168572
HP:0000185	Cleft soft palate	4750	NEK1	ORPHA:2751
HP:0000185	Cleft soft palate	11128	POLR3A	ORPHA:3455
HP:0000185	Cleft soft palate	10526	IPO8	OMIM:619472
HP:0000185	Cleft soft palate	6651	SON	ORPHA:500150
HP:0010806	U-Shaped upper lip vermilion	55906	ZC4H2	OMIM:301041
HP:0010806	U-Shaped upper lip vermilion	55906	ZC4H2	OMIM:314580
HP:0010806	U-Shaped upper lip vermilion	5594	MAPK1	OMIM:619087
HP:0010806	U-Shaped upper lip vermilion	546	ATRX	OMIM:309580
HP:0010806	U-Shaped upper lip vermilion	546	ATRX	OMIM:301040
HP:0010806	U-Shaped upper lip vermilion	546	ATRX	ORPHA:847
HP:0010806	U-Shaped upper lip vermilion	79813	EHMT1	OMIM:610253
HP:0010806	U-Shaped upper lip vermilion	23097	CDK19	OMIM:618916
HP:0010806	U-Shaped upper lip vermilion	8813	DPM1	ORPHA:79322
HP:0010806	U-Shaped upper lip vermilion	57688	ZSWIM6	OMIM:603671
HP:0000187	Broad alveolar ridges	9896	FIG4	OMIM:216340
HP:0000187	Broad alveolar ridges	1717	DHCR7	OMIM:270400
HP:0000187	Broad alveolar ridges	2697	GJA1	OMIM:218400
HP:0000187	Broad alveolar ridges	2697	GJA1	OMIM:164200
HP:0000187	Broad alveolar ridges	2697	GJA1	ORPHA:2710
HP:0000187	Broad alveolar ridges	171023	ASXL1	OMIM:605039
HP:0000187	Broad alveolar ridges	285590	SH3PXD2B	OMIM:249420
HP:0000187	Broad alveolar ridges	170302	ARX	OMIM:300004
HP:0000187	Broad alveolar ridges	55906	ZC4H2	OMIM:314580
HP:0000187	Broad alveolar ridges	473	RERE	OMIM:616975
HP:0000187	Broad alveolar ridges	129563	DIS3L2	ORPHA:2849
HP:0000187	Broad alveolar ridges	8481	OFD1	ORPHA:2750
HP:0000187	Broad alveolar ridges	2799	GNS	OMIM:252940
HP:0000187	Broad alveolar ridges	26040	SETBP1	ORPHA:798
HP:0000187	Broad alveolar ridges	526	ATP6V1B2	ORPHA:79500
HP:0000187	Broad alveolar ridges	57465	TBC1D24	ORPHA:79500
HP:0000187	Broad alveolar ridges	55697	VAC14	ORPHA:3472
HP:0000188	Short upper lip	9896	FIG4	OMIM:216340
HP:0000188	Short upper lip	9896	FIG4	ORPHA:3472
HP:0000188	Short upper lip	546	ATRX	OMIM:309580
HP:0000188	Short upper lip	23065	EMC1	OMIM:616875
HP:0000188	Short upper lip	55697	VAC14	ORPHA:3472
HP:0000188	Short upper lip	53834	FGFRL1	OMIM:194190
HP:0000188	Short upper lip	1487	CTBP1	OMIM:194190
HP:0000188	Short upper lip	3954	LETM1	OMIM:194190
HP:0000188	Short upper lip	7468	NSD2	OMIM:194190
HP:0000188	Short upper lip	10815	CPLX1	OMIM:194190
HP:0000188	Short upper lip	117581	TWIST2	OMIM:200110
HP:0000188	Short upper lip	271	AMPD2	OMIM:615809
HP:0000188	Short upper lip	2892	GRIA3	ORPHA:364028
HP:0000189	Narrow palate	7291	TWIST1	ORPHA:794
HP:0000189	Narrow palate	7291	TWIST1	OMIM:101400
HP:0000189	Narrow palate	2263	FGFR2	ORPHA:794
HP:0000189	Narrow palate	2263	FGFR2	ORPHA:1555
HP:0000189	Narrow palate	2263	FGFR2	OMIM:123790
HP:0000189	Narrow palate	2263	FGFR2	ORPHA:87
HP:0000189	Narrow palate	2263	FGFR2	ORPHA:207
HP:0000189	Narrow palate	2263	FGFR2	OMIM:101400
HP:0000189	Narrow palate	2263	FGFR2	OMIM:101200
HP:0000189	Narrow palate	2261	FGFR3	ORPHA:794
HP:0000189	Narrow palate	6197	RPS6KA3	ORPHA:192
HP:0000189	Narrow palate	6197	RPS6KA3	OMIM:303600
HP:0000189	Narrow palate	6909	TBX2	OMIM:618223
HP:0000189	Narrow palate	56896	DPYSL5	OMIM:619435
HP:0000189	Narrow palate	2892	GRIA3	ORPHA:364028
HP:0000189	Narrow palate	3590	IL11RA	OMIM:614188
HP:0000189	Narrow palate	8506	CNTNAP1	OMIM:618186
HP:0000189	Narrow palate	9524	TECR	OMIM:614020
HP:0000189	Narrow palate	1387	CREBBP	OMIM:180849
HP:0000189	Narrow palate	1387	CREBBP	ORPHA:353281
HP:0000189	Narrow palate	1387	CREBBP	ORPHA:353277
HP:0000189	Narrow palate	2033	EP300	OMIM:180849
HP:0000189	Narrow palate	2033	EP300	ORPHA:353284
HP:0000189	Narrow palate	2033	EP300	OMIM:613684
HP:0000189	Narrow palate	22931	RAB18	OMIM:614222
HP:0000189	Narrow palate	8924	HERC2	OMIM:615516
HP:0000189	Narrow palate	79005	SCNM1	OMIM:620107
HP:0000189	Narrow palate	5728	PTEN	ORPHA:109
HP:0000189	Narrow palate	526	ATP6V1B2	ORPHA:79500
HP:0000189	Narrow palate	57465	TBC1D24	ORPHA:79500
HP:0000189	Narrow palate	2200	FBN1	OMIM:608328
HP:0000189	Narrow palate	2200	FBN1	OMIM:154700
HP:0000189	Narrow palate	91754	NEK9	OMIM:617022
HP:0000189	Narrow palate	8567	MADD	OMIM:619004
HP:0000189	Narrow palate	63916	ELMO2	ORPHA:3019
HP:0000189	Narrow palate	57038	RARS2	OMIM:611523
HP:0000189	Narrow palate	9968	MED12	OMIM:305450
HP:0000189	Narrow palate	4952	OCRL	ORPHA:534
HP:0000189	Narrow palate	55343	SLC35C1	ORPHA:99843
HP:0000189	Narrow palate	6660	SOX5	ORPHA:313892
HP:0000189	Narrow palate	1376	CPT2	OMIM:608836
HP:0000189	Narrow palate	6497	SKI	OMIM:182212
HP:0000189	Narrow palate	6452	SH3BP2	OMIM:118400
HP:0000189	Narrow palate	1513	CTSK	OMIM:265800
HP:0000189	Narrow palate	64324	NSD1	OMIM:117550
HP:0000189	Narrow palate	8260	NAA10	OMIM:300855
HP:0000189	Narrow palate	23184	MESD	OMIM:618644
HP:0000189	Narrow palate	91137	SLC25A46	OMIM:616505
HP:0000189	Narrow palate	284058	KANSL1	OMIM:610443
HP:0000189	Narrow palate	7476	WNT7A	OMIM:276820
HP:0000189	Narrow palate	2077	ERF	ORPHA:207
HP:0000189	Narrow palate	147372	CCBE1	OMIM:235510
HP:0000189	Narrow palate	7474	WNT5A	OMIM:180700
HP:0000189	Narrow palate	1855	DVL1	OMIM:180700
HP:0000189	Narrow palate	8604	SLC25A12	OMIM:612949
HP:0000189	Narrow palate	3265	HRAS	ORPHA:3071
HP:0000189	Narrow palate	2316	FLNA	ORPHA:555877
HP:0000189	Narrow palate	171023	ASXL1	OMIM:605039
HP:0000189	Narrow palate	860	RUNX2	OMIM:119600
HP:0000189	Narrow palate	58497	PRUNE1	OMIM:617481
HP:0000189	Narrow palate	10297	APC2	OMIM:617169
HP:0000189	Narrow palate	672	BRCA1	OMIM:617883
HP:0000189	Narrow palate	26040	SETBP1	OMIM:616078
HP:0000189	Narrow palate	1954	MEGF8	OMIM:614976
HP:0000189	Narrow palate	7227	TRPS1	OMIM:190350
HP:0000189	Narrow palate	2719	GPC3	OMIM:312870
HP:0000189	Narrow palate	2239	GPC4	OMIM:312870
HP:0000189	Narrow palate	165	AEBP1	ORPHA:536532
HP:0000189	Narrow palate	81794	ADAMTS10	OMIM:277600
HP:0000189	Narrow palate	5979	RET	OMIM:162300
HP:0000189	Narrow palate	23013	SPEN	OMIM:619312
HP:0000189	Narrow palate	8367	H4C5	OMIM:619950
HP:0000189	Narrow palate	161742	SPRED1	OMIM:611431
HP:0000189	Narrow palate	23394	ADNP	OMIM:615873
HP:0000189	Narrow palate	5447	POR	ORPHA:95699
HP:0000189	Narrow palate	3190	HNRNPK	ORPHA:453504
HP:0000189	Narrow palate	3190	HNRNPK	ORPHA:352665
HP:0000189	Narrow palate	1301	COL11A1	OMIM:604841
HP:0000189	Narrow palate	116931	MED12L	OMIM:618872
HP:0000189	Narrow palate	91179	SCARF2	OMIM:600920
HP:0000189	Narrow palate	58	ACTA1	ORPHA:171433
HP:0000189	Narrow palate	4703	NEB	ORPHA:171433
HP:0000189	Narrow palate	10324	KLHL41	ORPHA:171433
HP:0000189	Narrow palate	7170	TPM3	ORPHA:171433
HP:0000189	Narrow palate	613	BCR	ORPHA:261330
HP:0000189	Narrow palate	1399	CRKL	ORPHA:261330
HP:0000189	Narrow palate	5594	MAPK1	ORPHA:261330
HP:0000189	Narrow palate	57520	HECW2	OMIM:617268
HP:0000189	Narrow palate	51506	UFC1	OMIM:618076
HP:0000189	Narrow palate	5830	PEX5	OMIM:202370
HP:0000189	Narrow palate	129563	DIS3L2	ORPHA:2849
HP:0000189	Narrow palate	137682	NDUFAF6	OMIM:618239
HP:0000189	Narrow palate	55780	ERMARD	ORPHA:75857
HP:0000189	Narrow palate	26153	KIF26A	OMIM:620156
HP:0000189	Narrow palate	5189	PEX1	OMIM:214100
HP:0000189	Narrow palate	4038	LRP4	ORPHA:3258
HP:0000189	Narrow palate	324	APC	ORPHA:3258
HP:0000189	Narrow palate	57551	TAOK1	OMIM:619575
HP:0000189	Narrow palate	8888	MCM3AP	OMIM:618124
HP:0000189	Narrow palate	4141	MARS1	OMIM:619692
HP:0000189	Narrow palate	1272	CNTN1	OMIM:612540
HP:0000189	Narrow palate	81857	MED25	ORPHA:464738
HP:0000189	Narrow palate	93986	FOXP2	ORPHA:209908
HP:0000189	Narrow palate	2260	FGFR1	OMIM:190440
HP:0000189	Narrow palate	84100	ARL6	OMIM:209900
HP:0000189	Narrow palate	79140	CCDC28B	OMIM:209900
HP:0000189	Narrow palate	582	BBS1	OMIM:209900
HP:0000189	Narrow palate	5351	PLOD1	ORPHA:1900
HP:0000189	Narrow palate	81620	CDT1	ORPHA:2554
HP:0000189	Narrow palate	5000	ORC4	ORPHA:2554
HP:0000189	Narrow palate	23594	ORC6	ORPHA:2554
HP:0000189	Narrow palate	8318	CDC45	ORPHA:2554
HP:0000189	Narrow palate	990	CDC6	ORPHA:2554
HP:0000189	Narrow palate	4998	ORC1	ORPHA:2554
HP:0000189	Narrow palate	51053	GMNN	ORPHA:2554
HP:0000189	Narrow palate	55764	IFT122	OMIM:218330
HP:0000189	Narrow palate	157680	VPS13B	OMIM:216550
HP:0000189	Narrow palate	157680	VPS13B	ORPHA:193
HP:0000189	Narrow palate	6899	TBX1	OMIM:188400
HP:0000189	Narrow palate	1281	COL3A1	ORPHA:286
HP:0000189	Narrow palate	9896	FIG4	ORPHA:3472
HP:0000189	Narrow palate	55697	VAC14	ORPHA:3472
HP:0000189	Narrow palate	1822	ATN1	OMIM:618494
HP:0000189	Narrow palate	51305	KCNK9	ORPHA:166108
HP:0000189	Narrow palate	4854	NOTCH3	ORPHA:2789
HP:0000189	Narrow palate	93627	TBCK	ORPHA:488632
HP:0000189	Narrow palate	200734	SPRED2	OMIM:619745
HP:0000189	Narrow palate	89910	UBE3B	ORPHA:2707
HP:0000189	Narrow palate	657	BMPR1A	ORPHA:79076
HP:0000189	Narrow palate	25942	SIN3A	OMIM:613406
HP:0000189	Narrow palate	139285	AMER1	ORPHA:2780
HP:0000189	Narrow palate	9401	RECQL4	OMIM:266280
HP:0000189	Narrow palate	10755	GIPC1	ORPHA:98897
HP:0000189	Narrow palate	100996717	NOTCH2NLC	ORPHA:98897
HP:0000189	Narrow palate	6885	MAP3K7	ORPHA:3238
HP:0000189	Narrow palate	538	ATP7A	ORPHA:198
HP:0000189	Narrow palate	54880	BCOR	OMIM:309800
HP:0000189	Narrow palate	4593	MUSK	OMIM:208150
HP:0000189	Narrow palate	388662	SLC6A17	ORPHA:457212
HP:0000189	Narrow palate	10526	IPO8	OMIM:619472
HP:0000189	Narrow palate	8558	CDK10	OMIM:617694
HP:0000189	Narrow palate	51604	PIGT	ORPHA:369837
HP:0000189	Narrow palate	6711	SPTBN1	OMIM:619475
HP:0000189	Narrow palate	56006	SMG9	OMIM:616920
HP:0000189	Narrow palate	1857	DVL3	ORPHA:3107
HP:0000189	Narrow palate	2535	FZD2	ORPHA:3107
HP:0000189	Narrow palate	27125	AFF4	OMIM:616368
HP:0000189	Narrow palate	9791	PTDSS1	ORPHA:2658
HP:0000189	Narrow palate	29957	SLC25A24	OMIM:612289
HP:0000189	Narrow palate	1303	COL12A1	ORPHA:536516
HP:0000189	Narrow palate	2887	GRB10	ORPHA:96182
HP:0000189	Narrow palate	6595	SMARCA2	ORPHA:3051
HP:0000189	Narrow palate	6595	SMARCA2	OMIM:601358
HP:0000189	Narrow palate	6872	TAF1	OMIM:300966
HP:0000189	Narrow palate	368	ABCC6	OMIM:177850
HP:0000189	Narrow palate	83479	DDX59	ORPHA:2919
HP:0000189	Narrow palate	4841	NONO	OMIM:300967
HP:0000189	Narrow palate	4841	NONO	ORPHA:466791
HP:0000189	Narrow palate	56098	PCDHGC4	OMIM:619880
HP:0000189	Narrow palate	63895	PIEZO2	OMIM:248700
HP:0000189	Narrow palate	8813	DPM1	OMIM:608799
HP:0000189	Narrow palate	8813	DPM1	ORPHA:79322
HP:0000189	Narrow palate	1315	COPB1	OMIM:619255
HP:0000189	Narrow palate	84168	ANTXR1	OMIM:230740
HP:0000189	Narrow palate	6611	SMS	OMIM:309583
HP:0000189	Narrow palate	25836	NIPBL	OMIM:122470
HP:0000189	Narrow palate	10020	GNE	ORPHA:3166
HP:0000189	Narrow palate	404672	GTF2H5	ORPHA:33364
HP:0000189	Narrow palate	833	CARS1	ORPHA:33364
HP:0000189	Narrow palate	2068	ERCC2	ORPHA:33364
HP:0000189	Narrow palate	7737	RNF113A	ORPHA:33364
HP:0000189	Narrow palate	136647	MPLKIP	ORPHA:33364
HP:0000189	Narrow palate	6897	TARS1	ORPHA:33364
HP:0000189	Narrow palate	2071	ERCC3	ORPHA:33364
HP:0000189	Narrow palate	2961	GTF2E2	ORPHA:33364
HP:0000189	Narrow palate	26123	TCTN3	ORPHA:2753
HP:0000189	Narrow palate	9897	WASHC5	ORPHA:7
HP:0000189	Narrow palate	28952	CCDC22	ORPHA:7
HP:0000189	Narrow palate	101929726	MYMX	OMIM:619941
HP:0000189	Narrow palate	196528	ARID2	OMIM:617808
HP:0000189	Narrow palate	27445	PCLO	OMIM:608027
HP:0000189	Narrow palate	7042	TGFB2	OMIM:614816
HP:0000189	Narrow palate	7042	TGFB2	ORPHA:91387
HP:0000189	Narrow palate	27152	INTU	OMIM:617926
HP:0000189	Narrow palate	4629	MYH11	ORPHA:91387
HP:0000189	Narrow palate	7046	TGFBR1	ORPHA:91387
HP:0000189	Narrow palate	7048	TGFBR2	ORPHA:91387
HP:0000189	Narrow palate	4015	LOX	ORPHA:91387
HP:0000189	Narrow palate	4087	SMAD2	ORPHA:91387
HP:0000189	Narrow palate	7043	TGFB3	ORPHA:91387
HP:0000189	Narrow palate	4088	SMAD3	ORPHA:91387
HP:0000189	Narrow palate	4089	SMAD4	ORPHA:91387
HP:0000189	Narrow palate	59	ACTA2	ORPHA:91387
HP:0000189	Narrow palate	5592	PRKG1	ORPHA:91387
HP:0000189	Narrow palate	2301	FOXE3	ORPHA:91387
HP:0000189	Narrow palate	4144	MAT2A	ORPHA:91387
HP:0000189	Narrow palate	23493	HEY2	ORPHA:91387
HP:0000189	Narrow palate	8076	MFAP5	ORPHA:91387
HP:0000189	Narrow palate	4638	MYLK	ORPHA:91387
HP:0000189	Narrow palate	2006	ELN	ORPHA:91387
HP:0000189	Narrow palate	80816	ASXL3	ORPHA:352577
HP:0000189	Narrow palate	5604	MAP2K1	OMIM:163950
HP:0000189	Narrow palate	5781	PTPN11	OMIM:163950
HP:0000189	Narrow palate	673	BRAF	OMIM:163950
HP:0007346	Subcortical white matter calcifications	1161	ERCC8	ORPHA:90324
HP:0007346	Subcortical white matter calcifications	1161	ERCC8	ORPHA:90322
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	ORPHA:90324
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	OMIM:133540
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	ORPHA:90322
HP:0007346	Subcortical white matter calcifications	727676	SNORD118	ORPHA:542310
HP:0007346	Subcortical white matter calcifications	2067	ERCC1	ORPHA:90322
HP:0007348	Hypoplasia of the pyramidal tract	2218	FKTN	OMIM:253800
HP:0030796	Increased C-peptide level	3767	KCNJ11	ORPHA:276580
HP:0030796	Increased C-peptide level	3767	KCNJ11	ORPHA:79644
HP:0030796	Increased C-peptide level	63924	CIDEC	OMIM:615238
HP:0030796	Increased C-peptide level	7351	UCP2	ORPHA:276556
HP:0030796	Increased C-peptide level	3643	INSR	ORPHA:769
HP:0030796	Increased C-peptide level	3033	HADH	ORPHA:71212
HP:0030796	Increased C-peptide level	6927	HNF1A	ORPHA:324575
HP:0030796	Increased C-peptide level	6833	ABCC8	ORPHA:276575
HP:0030796	Increased C-peptide level	5468	PPARG	ORPHA:528
HP:0030796	Increased C-peptide level	10555	AGPAT2	ORPHA:528
HP:0030796	Increased C-peptide level	284119	CAVIN1	ORPHA:528
HP:0030796	Increased C-peptide level	26580	BSCL2	ORPHA:528
HP:0030796	Increased C-peptide level	2353	FOS	ORPHA:528
HP:0030796	Increased C-peptide level	857	CAV1	ORPHA:528
HP:0030796	Increased C-peptide level	55186	SLC25A36	OMIM:620211
HP:0030795	Reduced C-peptide level	3630	INS	OMIM:618858
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:610582
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:616329
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:618856
HP:0030795	Reduced C-peptide level	4665	NAB2	ORPHA:2126
HP:0030795	Reduced C-peptide level	6778	STAT6	ORPHA:2126
HP:0030795	Reduced C-peptide level	3651	PDX1	OMIM:260370
HP:0030795	Reduced C-peptide level	23019	CNOT1	ORPHA:556955
HP:0030795	Reduced C-peptide level	2645	GCK	OMIM:606176
HP:0030794	Abnormal circulating C-peptide concentration	8462	KLF11	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	26060	APPL1	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	640	BLK	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	1056	CEL	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	4760	NEUROD1	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	5078	PAX4	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3172	HNF4A	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3630	INS	OMIM:618858
HP:0030794	Abnormal circulating C-peptide concentration	4665	NAB2	ORPHA:2126
HP:0030794	Abnormal circulating C-peptide concentration	6778	STAT6	ORPHA:2126
HP:0030794	Abnormal circulating C-peptide concentration	3651	PDX1	OMIM:260370
HP:0030794	Abnormal circulating C-peptide concentration	23019	CNOT1	ORPHA:556955
HP:0030794	Abnormal circulating C-peptide concentration	2645	GCK	OMIM:606176
HP:0030794	Abnormal circulating C-peptide concentration	3767	KCNJ11	ORPHA:276580
HP:0030794	Abnormal circulating C-peptide concentration	3767	KCNJ11	ORPHA:79644
HP:0030794	Abnormal circulating C-peptide concentration	63924	CIDEC	OMIM:615238
HP:0030794	Abnormal circulating C-peptide concentration	7351	UCP2	ORPHA:276556
HP:0030794	Abnormal circulating C-peptide concentration	3643	INSR	ORPHA:769
HP:0030794	Abnormal circulating C-peptide concentration	3033	HADH	ORPHA:71212
HP:0030794	Abnormal circulating C-peptide concentration	6927	HNF1A	ORPHA:324575
HP:0030794	Abnormal circulating C-peptide concentration	6833	ABCC8	ORPHA:276575
HP:0030794	Abnormal circulating C-peptide concentration	5468	PPARG	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	10555	AGPAT2	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	284119	CAVIN1	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	26580	BSCL2	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	2353	FOS	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	857	CAV1	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	55186	SLC25A36	OMIM:620211
HP:0030793	Jaw swelling	6452	SH3BP2	OMIM:118400
HP:0030793	Jaw swelling	23102	TBC1D2B	OMIM:619323
HP:0007350	Hyperreflexia in upper limbs	11160	ERLIN2	ORPHA:280384
HP:0007350	Hyperreflexia in upper limbs	11160	ERLIN2	ORPHA:209951
HP:0007350	Hyperreflexia in upper limbs	9897	WASHC5	OMIM:603563
HP:0007350	Hyperreflexia in upper limbs	65055	REEP1	ORPHA:101011
HP:0007350	Hyperreflexia in upper limbs	137492	VPS37A	ORPHA:319199
HP:0007350	Hyperreflexia in upper limbs	113612	CYP2U1	OMIM:615030
HP:0007350	Hyperreflexia in upper limbs	7143	TNR	OMIM:619653
HP:0007350	Hyperreflexia in upper limbs	6683	SPAST	ORPHA:100985
HP:0007350	Hyperreflexia in upper limbs	6389	SDHA	ORPHA:3208
HP:0007350	Hyperreflexia in upper limbs	6390	SDHB	ORPHA:3208
HP:0007350	Hyperreflexia in upper limbs	6392	SDHD	ORPHA:3208
HP:0007350	Hyperreflexia in upper limbs	644096	SDHAF1	ORPHA:3208
HP:0007350	Hyperreflexia in upper limbs	5832	ALDH18A1	ORPHA:447757
HP:0007350	Hyperreflexia in upper limbs	5832	ALDH18A1	ORPHA:447753
HP:0007350	Hyperreflexia in upper limbs	5832	ALDH18A1	ORPHA:447760
HP:0007350	Hyperreflexia in upper limbs	823	CAPN1	OMIM:616907
HP:0007350	Hyperreflexia in upper limbs	823	CAPN1	ORPHA:488594
HP:0007350	Hyperreflexia in upper limbs	84188	FAR1	ORPHA:447753
HP:0007350	Hyperreflexia in upper limbs	6253	RTN2	ORPHA:100993
HP:0007350	Hyperreflexia in upper limbs	51271	UBAP1	ORPHA:100993
HP:0007350	Hyperreflexia in upper limbs	51271	UBAP1	OMIM:618418
HP:0007350	Hyperreflexia in upper limbs	3329	HSPD1	ORPHA:100994
HP:0007350	Hyperreflexia in upper limbs	2512	FTL	ORPHA:157846
HP:0007350	Hyperreflexia in upper limbs	3798	KIF5A	ORPHA:100991
HP:0007350	Hyperreflexia in upper limbs	3839	KPNA3	ORPHA:171612
HP:0007350	Hyperreflexia in upper limbs	23400	ATP13A2	ORPHA:306674
HP:0007350	Hyperreflexia in upper limbs	9517	SPTLC2	OMIM:613640
HP:0007350	Hyperreflexia in upper limbs	80208	SPG11	ORPHA:2822
HP:0007350	Hyperreflexia in upper limbs	80208	SPG11	OMIM:604360
HP:0007350	Hyperreflexia in upper limbs	57156	TMEM63C	OMIM:619966
HP:0007350	Hyperreflexia in upper limbs	55129	ANO10	OMIM:613728
HP:0007350	Hyperreflexia in upper limbs	10060	ABCC9	OMIM:619719
HP:0007352	Cerebellar calcifications	1161	ERCC8	ORPHA:90324
HP:0007352	Cerebellar calcifications	2074	ERCC6	ORPHA:90324
HP:0007352	Cerebellar calcifications	727676	SNORD118	ORPHA:542310
HP:0007352	Cerebellar calcifications	6575	SLC20A2	OMIM:213600
HP:0007352	Cerebellar calcifications	5155	PDGFB	OMIM:213600
HP:0007352	Cerebellar calcifications	5159	PDGFRB	OMIM:213600
HP:0007352	Cerebellar calcifications	58494	JAM2	OMIM:618824
HP:0007352	Cerebellar calcifications	11277	TREX1	OMIM:225750
HP:0007354	Amyotrophic lateral sclerosis	23064	SETX	OMIM:602433
HP:0007354	Amyotrophic lateral sclerosis	4137	MAPT	OMIM:600274
HP:0007354	Amyotrophic lateral sclerosis	5663	PSEN1	OMIM:600274
HP:0007354	Amyotrophic lateral sclerosis	29978	UBQLN2	OMIM:300857
HP:0007354	Amyotrophic lateral sclerosis	29978	UBQLN2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1540	CYLD	OMIM:619132
HP:0007354	Amyotrophic lateral sclerosis	7072	TIA1	OMIM:619133
HP:0007354	Amyotrophic lateral sclerosis	4750	NEK1	OMIM:617892
HP:0007354	Amyotrophic lateral sclerosis	4750	NEK1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	57679	ALS2	OMIM:205100
HP:0007354	Amyotrophic lateral sclerosis	57679	ALS2	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	OMIM:608030
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	OMIM:606070
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	ORPHA:600
HP:0007354	Amyotrophic lateral sclerosis	23435	TARDBP	OMIM:612069
HP:0007354	Amyotrophic lateral sclerosis	23435	TARDBP	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2066	ERBB4	OMIM:615515
HP:0007354	Amyotrophic lateral sclerosis	2066	ERBB4	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	10133	OPTN	OMIM:613435
HP:0007354	Amyotrophic lateral sclerosis	10133	OPTN	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	400916	CHCHD10	OMIM:615911
HP:0007354	Amyotrophic lateral sclerosis	400916	CHCHD10	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	283	ANG	OMIM:611895
HP:0007354	Amyotrophic lateral sclerosis	283	ANG	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	7277	TUBA4A	OMIM:616208
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	OMIM:613954
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	ORPHA:52430
HP:0007354	Amyotrophic lateral sclerosis	311	ANXA11	OMIM:617839
HP:0007354	Amyotrophic lateral sclerosis	311	ANXA11	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	25978	CHMP2B	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	OMIM:615426
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	ORPHA:52430
HP:0007354	Amyotrophic lateral sclerosis	8148	TAF15	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5445	PON2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9217	VAPB	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9217	VAPB	OMIM:608627
HP:0007354	Amyotrophic lateral sclerosis	8878	SQSTM1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	8878	SQSTM1	OMIM:616437
HP:0007354	Amyotrophic lateral sclerosis	5630	PRPH	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5630	PRPH	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	29110	TBK1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	29110	TBK1	OMIM:616439
HP:0007354	Amyotrophic lateral sclerosis	55830	GLT8D1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	755	CFAP410	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	10891	PPARGC1A	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6647	SOD1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6647	SOD1	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	1639	DCTN1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1639	DCTN1	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	9896	FIG4	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9896	FIG4	OMIM:612577
HP:0007354	Amyotrophic lateral sclerosis	5444	PON1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5446	PON3	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	4744	NEFH	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	4744	NEFH	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	5216	PFN1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5216	PFN1	OMIM:614808
HP:0007354	Amyotrophic lateral sclerosis	54209	TREM2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2733	GLE1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2043	EPHA4	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6311	ATXN2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1610	DAO	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	23025	UNC13A	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	899	CCNF	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	899	CCNF	OMIM:619141
HP:0007354	Amyotrophic lateral sclerosis	80208	SPG11	OMIM:602099
HP:0007354	Amyotrophic lateral sclerosis	80208	SPG11	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	203228	C9orf72	OMIM:105550
HP:0007354	Amyotrophic lateral sclerosis	10280	SIGMAR1	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	10280	SIGMAR1	OMIM:614373
HP:0007354	Amyotrophic lateral sclerosis	10558	SPTLC1	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	3798	KIF5A	OMIM:617921
HP:0007354	Amyotrophic lateral sclerosis	54822	TRPM7	OMIM:105500
HP:0007354	Amyotrophic lateral sclerosis	3181	HNRNPA2B1	ORPHA:52430
HP:0000190	Abnormal oral frenulum morphology	5566	PRKACA	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	5567	PRKACB	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	2735	GLI1	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	2121	EVC	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	2121	EVC	ORPHA:952
HP:0000190	Abnormal oral frenulum morphology	51626	DYNC2LI1	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	132884	EVC2	ORPHA:289
HP:0000190	Abnormal oral frenulum morphology	132884	EVC2	ORPHA:952
HP:0000190	Abnormal oral frenulum morphology	1281	COL3A1	ORPHA:286
HP:0000190	Abnormal oral frenulum morphology	374654	KIF7	OMIM:200990
HP:0000190	Abnormal oral frenulum morphology	374654	KIF7	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	54101	RIPK4	ORPHA:1401
HP:0000190	Abnormal oral frenulum morphology	10716	TBR1	ORPHA:1617
HP:0000190	Abnormal oral frenulum morphology	4750	NEK1	ORPHA:2751
HP:0000190	Abnormal oral frenulum morphology	26123	TCTN3	ORPHA:2753
HP:0000190	Abnormal oral frenulum morphology	26123	TCTN3	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	10210	TOPORS	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	5147	PDE6D	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	65250	CPLANE1	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	51259	TMEM216	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	317662	FAM149B1	ORPHA:2754
HP:0000190	Abnormal oral frenulum morphology	55209	SETD5	ORPHA:404440
HP:0000190	Abnormal oral frenulum morphology	2737	GLI3	ORPHA:672
HP:0000190	Abnormal oral frenulum morphology	2316	FLNA	OMIM:300244
HP:0000190	Abnormal oral frenulum morphology	2316	FLNA	ORPHA:88630
HP:0000190	Abnormal oral frenulum morphology	9742	IFT140	OMIM:266920
HP:0000190	Abnormal oral frenulum morphology	26005	C2CD3	ORPHA:434179
HP:0000190	Abnormal oral frenulum morphology	9786	KIAA0586	OMIM:616546
HP:0000190	Abnormal oral frenulum morphology	79005	SCNM1	OMIM:620107
HP:0000190	Abnormal oral frenulum morphology	1147	CHUK	OMIM:619339
HP:0000190	Abnormal oral frenulum morphology	55081	IFT57	OMIM:617927
HP:0000190	Abnormal oral frenulum morphology	10225	CD96	ORPHA:1308
HP:0000190	Abnormal oral frenulum morphology	10225	CD96	OMIM:211750
HP:0000190	Abnormal oral frenulum morphology	9343	EFTUD2	ORPHA:79113
HP:0000190	Abnormal oral frenulum morphology	4000	LMNA	ORPHA:740
HP:0000190	Abnormal oral frenulum morphology	10269	ZMPSTE24	ORPHA:740
HP:0000190	Abnormal oral frenulum morphology	57539	WDR35	OMIM:614091
HP:0000190	Abnormal oral frenulum morphology	6595	SMARCA2	OMIM:601358
HP:0000190	Abnormal oral frenulum morphology	9851	KIAA0753	OMIM:619479
HP:0000190	Abnormal oral frenulum morphology	8621	CDK13	OMIM:617360
HP:0000190	Abnormal oral frenulum morphology	145173	B3GLCT	OMIM:261540
HP:0000190	Abnormal oral frenulum morphology	158326	FREM1	ORPHA:217266
HP:0000190	Abnormal oral frenulum morphology	158326	FREM1	OMIM:608980
HP:0000190	Abnormal oral frenulum morphology	526	ATP6V1B2	ORPHA:79500
HP:0000190	Abnormal oral frenulum morphology	57465	TBC1D24	ORPHA:79500
HP:0000190	Abnormal oral frenulum morphology	7474	WNT5A	OMIM:180700
HP:0000190	Abnormal oral frenulum morphology	1855	DVL1	OMIM:180700
HP:0000190	Abnormal oral frenulum morphology	50945	TBX22	OMIM:303400
HP:0000190	Abnormal oral frenulum morphology	8367	H4C5	OMIM:619950
HP:0000190	Abnormal oral frenulum morphology	340419	RSPO2	OMIM:618021
HP:0000190	Abnormal oral frenulum morphology	5457	POU4F1	OMIM:619352
HP:0000190	Abnormal oral frenulum morphology	3899	AFF3	OMIM:619297
HP:0000190	Abnormal oral frenulum morphology	6711	SPTBN1	OMIM:619475
HP:0000190	Abnormal oral frenulum morphology	57479	PRR12	OMIM:619539
HP:0000190	Abnormal oral frenulum morphology	23394	ADNP	OMIM:615873
HP:0000190	Abnormal oral frenulum morphology	9894	TELO2	ORPHA:488642
HP:0000190	Abnormal oral frenulum morphology	64359	NXN	ORPHA:1507
HP:0000190	Abnormal oral frenulum morphology	4920	ROR2	ORPHA:1507
HP:0000190	Abnormal oral frenulum morphology	8085	KMT2D	OMIM:620186
HP:0000190	Abnormal oral frenulum morphology	4312	MMP1	ORPHA:79408
HP:0000190	Abnormal oral frenulum morphology	1294	COL7A1	ORPHA:79408
HP:0000190	Abnormal oral frenulum morphology	1294	COL7A1	ORPHA:89842
HP:0000190	Abnormal oral frenulum morphology	9578	CDC42BPB	OMIM:619841
HP:0000190	Abnormal oral frenulum morphology	613	BCR	ORPHA:261330
HP:0000190	Abnormal oral frenulum morphology	1399	CRKL	ORPHA:261330
HP:0000190	Abnormal oral frenulum morphology	5594	MAPK1	ORPHA:261330
HP:0000190	Abnormal oral frenulum morphology	26040	SETBP1	OMIM:616078
HP:0000190	Abnormal oral frenulum morphology	4281	MID1	ORPHA:2745
HP:0000190	Abnormal oral frenulum morphology	83479	DDX59	OMIM:174300
HP:0000190	Abnormal oral frenulum morphology	8481	OFD1	OMIM:311200
HP:0000190	Abnormal oral frenulum morphology	2542	SLC37A4	OMIM:619525
HP:0000190	Abnormal oral frenulum morphology	63901	FAM111A	OMIM:602361
HP:0000191	Accessory oral frenulum	2737	GLI3	ORPHA:672
HP:0000191	Accessory oral frenulum	2316	FLNA	OMIM:300244
HP:0000191	Accessory oral frenulum	2316	FLNA	ORPHA:88630
HP:0000191	Accessory oral frenulum	51626	DYNC2LI1	OMIM:617088
HP:0000191	Accessory oral frenulum	9742	IFT140	OMIM:266920
HP:0000191	Accessory oral frenulum	83479	DDX59	ORPHA:2919
HP:0000191	Accessory oral frenulum	65250	CPLANE1	OMIM:277170
HP:0000191	Accessory oral frenulum	5566	PRKACA	OMIM:619142
HP:0000191	Accessory oral frenulum	5567	PRKACB	OMIM:619143
HP:0000191	Accessory oral frenulum	26005	C2CD3	ORPHA:434179
HP:0000191	Accessory oral frenulum	9786	KIAA0586	OMIM:616546
HP:0000191	Accessory oral frenulum	79005	SCNM1	OMIM:620107
HP:0000191	Accessory oral frenulum	1147	CHUK	OMIM:619339
HP:0000191	Accessory oral frenulum	9894	TELO2	OMIM:616954
HP:0000191	Accessory oral frenulum	55081	IFT57	OMIM:617927
HP:0000191	Accessory oral frenulum	10225	CD96	ORPHA:1308
HP:0000191	Accessory oral frenulum	10225	CD96	OMIM:211750
HP:0000191	Accessory oral frenulum	8481	OFD1	ORPHA:2750
HP:0000191	Accessory oral frenulum	9343	EFTUD2	ORPHA:79113
HP:0000191	Accessory oral frenulum	26123	TCTN3	OMIM:258860
HP:0000194	Open mouth	2137	EXTL3	ORPHA:508533
HP:0000194	Open mouth	5573	PRKAR1A	ORPHA:950
HP:0000194	Open mouth	5144	PDE4D	ORPHA:950
HP:0000194	Open mouth	3763	KCNJ6	ORPHA:435628
HP:0000194	Open mouth	3763	KCNJ6	OMIM:614098
HP:0000194	Open mouth	23141	ANKLE2	OMIM:616681
HP:0000194	Open mouth	8367	H4C5	OMIM:619950
HP:0000194	Open mouth	340533	NEXMIF	OMIM:300912
HP:0000194	Open mouth	8473	OGT	OMIM:300997
HP:0000194	Open mouth	54517	PUS7	OMIM:618342
HP:0000194	Open mouth	6228	RPS23	OMIM:617412
HP:0000194	Open mouth	673	BRAF	OMIM:115150
HP:0000194	Open mouth	92335	STRADA	ORPHA:500533
HP:0000194	Open mouth	92335	STRADA	OMIM:611087
HP:0000194	Open mouth	65062	TMEM237	OMIM:614424
HP:0000194	Open mouth	53616	ADAM22	OMIM:617933
HP:0000194	Open mouth	55777	MBD5	ORPHA:228402
HP:0000194	Open mouth	55777	MBD5	OMIM:156200
HP:0000194	Open mouth	118987	PDZD8	OMIM:620021
HP:0000194	Open mouth	2629	GBA1	OMIM:608013
HP:0000194	Open mouth	23126	POGZ	ORPHA:468678
HP:0000194	Open mouth	3190	HNRNPK	ORPHA:453504
HP:0000194	Open mouth	3190	HNRNPK	OMIM:616580
HP:0000194	Open mouth	3190	HNRNPK	ORPHA:352665
HP:0000194	Open mouth	10479	SLC9A6	OMIM:300243
HP:0000194	Open mouth	57465	TBC1D24	OMIM:220500
HP:0000194	Open mouth	57465	TBC1D24	ORPHA:79500
HP:0000194	Open mouth	6535	SLC6A8	ORPHA:52503
HP:0000194	Open mouth	116931	MED12L	OMIM:618872
HP:0000194	Open mouth	374654	KIF7	OMIM:200990
HP:0000194	Open mouth	3020	H3-3A	OMIM:619720
HP:0000194	Open mouth	388015	RTL1	ORPHA:254528
HP:0000194	Open mouth	8788	DLK1	ORPHA:254528
HP:0000194	Open mouth	55384	MEG3	ORPHA:254528
HP:0000194	Open mouth	283489	CHAMP1	OMIM:616579
HP:0000194	Open mouth	129563	DIS3L2	ORPHA:2849
HP:0000194	Open mouth	129563	DIS3L2	OMIM:267000
HP:0000194	Open mouth	2314	FLII	ORPHA:819
HP:0000194	Open mouth	23096	IQSEC2	ORPHA:819
HP:0000194	Open mouth	10743	RAI1	ORPHA:819
HP:0000194	Open mouth	10522	DEAF1	ORPHA:819
HP:0000194	Open mouth	4952	OCRL	ORPHA:534
HP:0000194	Open mouth	3908	LAMA2	ORPHA:258
HP:0000194	Open mouth	6197	RPS6KA3	OMIM:303600
HP:0000194	Open mouth	6197	RPS6KA3	ORPHA:192
HP:0000194	Open mouth	5980	REV3L	ORPHA:570
HP:0000194	Open mouth	23129	PLXND1	ORPHA:570
HP:0000194	Open mouth	84340	GFM2	ORPHA:565624
HP:0000194	Open mouth	317662	FAM149B1	OMIM:618763
HP:0000194	Open mouth	284058	KANSL1	ORPHA:363958
HP:0000194	Open mouth	284058	KANSL1	ORPHA:363965
HP:0000194	Open mouth	284058	KANSL1	OMIM:610443
HP:0000194	Open mouth	55870	ASH1L	OMIM:617796
HP:0000194	Open mouth	9968	MED12	ORPHA:93932
HP:0000194	Open mouth	9968	MED12	OMIM:309520
HP:0000194	Open mouth	9326	ZNHIT3	ORPHA:2836
HP:0000194	Open mouth	9326	ZNHIT3	OMIM:260565
HP:0000194	Open mouth	547	KIF1A	ORPHA:2836
HP:0000194	Open mouth	23389	MED13L	ORPHA:369891
HP:0000194	Open mouth	23389	MED13L	OMIM:616789
HP:0000194	Open mouth	157680	VPS13B	OMIM:216550
HP:0000194	Open mouth	157680	VPS13B	ORPHA:193
HP:0000194	Open mouth	54806	AHI1	OMIM:608629
HP:0000194	Open mouth	23258	DENND5A	OMIM:617281
HP:0000194	Open mouth	4784	NFIX	ORPHA:561
HP:0000194	Open mouth	9839	ZEB2	ORPHA:261552
HP:0000194	Open mouth	9839	ZEB2	ORPHA:261537
HP:0000194	Open mouth	5442	POLRMT	OMIM:619743
HP:0000194	Open mouth	5528	PPP2R5D	OMIM:616355
HP:0000194	Open mouth	79576	NKAP	OMIM:301039
HP:0000194	Open mouth	1822	ATN1	OMIM:618494
HP:0000194	Open mouth	26040	SETBP1	OMIM:616078
HP:0000194	Open mouth	51305	KCNK9	ORPHA:166108
HP:0000194	Open mouth	2475	MTOR	ORPHA:457485
HP:0000194	Open mouth	2475	MTOR	OMIM:616638
HP:0000194	Open mouth	54551	MAGEL2	OMIM:615547
HP:0000194	Open mouth	25942	SIN3A	OMIM:613406
HP:0000194	Open mouth	4247	MGAT2	OMIM:212066
HP:0000194	Open mouth	4247	MGAT2	ORPHA:79329
HP:0000194	Open mouth	5518	PPP2R1A	OMIM:616362
HP:0000194	Open mouth	5518	PPP2R1A	ORPHA:457284
HP:0000194	Open mouth	55768	NGLY1	OMIM:615273
HP:0000194	Open mouth	5281	PIGF	OMIM:619356
HP:0000194	Open mouth	2892	GRIA3	ORPHA:364028
HP:0000194	Open mouth	51604	PIGT	OMIM:615398
HP:0000194	Open mouth	57680	CHD8	OMIM:615032
HP:0000194	Open mouth	5063	PAK3	OMIM:300558
HP:0000194	Open mouth	1213	CLTC	OMIM:617854
HP:0000194	Open mouth	6660	SOX5	OMIM:616803
HP:0000194	Open mouth	10382	TUBB4A	ORPHA:98805
HP:0000194	Open mouth	285175	UNC80	OMIM:616801
HP:0000194	Open mouth	3211	HOXB1	OMIM:614744
HP:0000194	Open mouth	526	ATP6V1B2	ORPHA:79500
HP:0000194	Open mouth	8905	AP1S2	ORPHA:85329
HP:0000194	Open mouth	4893	NRAS	OMIM:137550
HP:0000194	Open mouth	3265	HRAS	OMIM:137550
HP:0000194	Open mouth	54828	BCAS3	OMIM:619641
HP:0000194	Open mouth	4841	NONO	OMIM:300967
HP:0000194	Open mouth	4841	NONO	ORPHA:466791
HP:0000194	Open mouth	27086	FOXP1	ORPHA:391372
HP:0000194	Open mouth	27086	FOXP1	OMIM:613670
HP:0000194	Open mouth	6942	TCF20	OMIM:618430
HP:0000194	Open mouth	57688	ZSWIM6	OMIM:617865
HP:0000194	Open mouth	1806	DPYD	ORPHA:1675
HP:0000194	Open mouth	207	AKT1	OMIM:176920
HP:0000194	Open mouth	55704	CCDC88A	OMIM:617507
HP:0000194	Open mouth	200424	TET3	OMIM:618798
HP:0000194	Open mouth	25973	PARS2	OMIM:618437
HP:0000194	Open mouth	9993	DGCR2	OMIM:192430
HP:0000194	Open mouth	8220	ESS2	OMIM:192430
HP:0000194	Open mouth	8214	DGCR6	OMIM:192430
HP:0000194	Open mouth	54487	DGCR8	OMIM:192430
HP:0000194	Open mouth	6899	TBX1	OMIM:192430
HP:0000194	Open mouth	8911	CACNA1I	OMIM:620114
HP:0000194	Open mouth	51244	CCDC174	OMIM:616816
HP:0000194	Open mouth	6925	TCF4	OMIM:610954
HP:0000194	Open mouth	51085	MLXIPL	OMIM:194050
HP:0000194	Open mouth	2006	ELN	OMIM:194050
HP:0000194	Open mouth	3756	KCNH1	ORPHA:420561
HP:0000194	Open mouth	4208	MEF2C	ORPHA:228384
HP:0000194	Open mouth	23556	PIGN	OMIM:614080
HP:0000194	Open mouth	7030	TFE3	OMIM:301066
HP:0000194	Open mouth	7355	SLC35A2	OMIM:300896
HP:0000194	Open mouth	5879	RAC1	OMIM:617751
HP:0000194	Open mouth	5879	RAC1	ORPHA:500159
HP:0000194	Open mouth	29954	POMT2	OMIM:613156
HP:0000194	Open mouth	546	ATRX	OMIM:309580
HP:0000194	Open mouth	9487	PIGL	OMIM:280000
HP:0000194	Open mouth	11141	IL1RAPL1	OMIM:300143
HP:0000194	Open mouth	1968	EIF2S3	OMIM:300148
HP:0000194	Open mouth	27161	AGO2	OMIM:619149
HP:0000194	Open mouth	9427	ECEL1	OMIM:615065
HP:0000194	Open mouth	667	DST	OMIM:614653
HP:0000194	Open mouth	5813	PURA	OMIM:616158
HP:0000194	Open mouth	22907	DHX30	OMIM:617804
HP:0000194	Open mouth	1460	CSNK2B	OMIM:618732
HP:0000194	Open mouth	6664	SOX11	OMIM:615866
HP:0000194	Open mouth	80816	ASXL3	ORPHA:352577
HP:0000194	Open mouth	56623	INPP5E	OMIM:213300
HP:0000194	Open mouth	6638	SNRPN	ORPHA:177907
HP:0000212	Gingival overgrowth	2137	EXTL3	ORPHA:508533
HP:0000212	Gingival overgrowth	3763	KCNJ6	ORPHA:435628
HP:0000212	Gingival overgrowth	3763	KCNJ6	OMIM:614098
HP:0000212	Gingival overgrowth	6309	SC5D	ORPHA:46059
HP:0000212	Gingival overgrowth	6309	SC5D	OMIM:607330
HP:0000212	Gingival overgrowth	8506	CNTNAP1	OMIM:618186
HP:0000212	Gingival overgrowth	118429	ANTXR2	ORPHA:2176
HP:0000212	Gingival overgrowth	118429	ANTXR2	ORPHA:2028
HP:0000212	Gingival overgrowth	118429	ANTXR2	OMIM:228600
HP:0000212	Gingival overgrowth	2720	GLB1	OMIM:230600
HP:0000212	Gingival overgrowth	2720	GLB1	ORPHA:79255
HP:0000212	Gingival overgrowth	2720	GLB1	OMIM:230500
HP:0000212	Gingival overgrowth	4758	NEU1	ORPHA:93399
HP:0000212	Gingival overgrowth	4758	NEU1	ORPHA:93400
HP:0000212	Gingival overgrowth	114803	MYSM1	ORPHA:508542
HP:0000212	Gingival overgrowth	57465	TBC1D24	OMIM:220500
HP:0000212	Gingival overgrowth	57465	TBC1D24	ORPHA:79500
HP:0000212	Gingival overgrowth	23102	TBC1D2B	OMIM:619323
HP:0000212	Gingival overgrowth	54453	RIN2	ORPHA:217335
HP:0000212	Gingival overgrowth	54453	RIN2	OMIM:613075
HP:0000212	Gingival overgrowth	374654	KIF7	OMIM:200990
HP:0000212	Gingival overgrowth	80816	ASXL3	OMIM:615485
HP:0000212	Gingival overgrowth	1855	DVL1	OMIM:616331
HP:0000212	Gingival overgrowth	1855	DVL1	ORPHA:3107
HP:0000212	Gingival overgrowth	1855	DVL1	OMIM:180700
HP:0000212	Gingival overgrowth	526	ATP6V1B2	OMIM:616455
HP:0000212	Gingival overgrowth	526	ATP6V1B2	ORPHA:79500
HP:0000212	Gingival overgrowth	3097	HIVEP2	OMIM:616977
HP:0000212	Gingival overgrowth	1717	DHCR7	ORPHA:818
HP:0000212	Gingival overgrowth	79158	GNPTAB	OMIM:252500
HP:0000212	Gingival overgrowth	79158	GNPTAB	ORPHA:576
HP:0000212	Gingival overgrowth	4131	MAP1B	OMIM:618918
HP:0000212	Gingival overgrowth	56975	FAM20C	OMIM:259775
HP:0000212	Gingival overgrowth	56975	FAM20C	ORPHA:1832
HP:0000212	Gingival overgrowth	4784	NFIX	OMIM:602535
HP:0000212	Gingival overgrowth	4784	NFIX	ORPHA:561
HP:0000212	Gingival overgrowth	4784	NFIX	OMIM:614753
HP:0000212	Gingival overgrowth	6023	RMRP	ORPHA:175
HP:0000212	Gingival overgrowth	716	C1S	ORPHA:75392
HP:0000212	Gingival overgrowth	715	C1R	ORPHA:75392
HP:0000212	Gingival overgrowth	4001	LMNB1	OMIM:619179
HP:0000212	Gingival overgrowth	4125	MAN2B1	OMIM:248500
HP:0000212	Gingival overgrowth	3899	AFF3	OMIM:619297
HP:0000212	Gingival overgrowth	54757	FAM20A	OMIM:204690
HP:0000212	Gingival overgrowth	54757	FAM20A	ORPHA:1031
HP:0000212	Gingival overgrowth	3756	KCNH1	OMIM:135500
HP:0000212	Gingival overgrowth	3756	KCNH1	ORPHA:420561
HP:0000212	Gingival overgrowth	3643	INSR	OMIM:246200
HP:0000212	Gingival overgrowth	3643	INSR	ORPHA:769
HP:0000212	Gingival overgrowth	3423	IDS	ORPHA:217085
HP:0000212	Gingival overgrowth	3423	IDS	ORPHA:217093
HP:0000212	Gingival overgrowth	64359	NXN	OMIM:618529
HP:0000212	Gingival overgrowth	64359	NXN	ORPHA:1507
HP:0000212	Gingival overgrowth	9326	ZNHIT3	ORPHA:2836
HP:0000212	Gingival overgrowth	547	KIF1A	ORPHA:2836
HP:0000212	Gingival overgrowth	7965	AIMP2	OMIM:618006
HP:0000212	Gingival overgrowth	93627	TBCK	OMIM:616900
HP:0000212	Gingival overgrowth	2248	FGF3	ORPHA:2791
HP:0000212	Gingival overgrowth	4920	ROR2	ORPHA:1507
HP:0000212	Gingival overgrowth	4920	ROR2	OMIM:268310
HP:0000212	Gingival overgrowth	4323	MMP14	OMIM:277950
HP:0000212	Gingival overgrowth	5340	PLG	ORPHA:722
HP:0000212	Gingival overgrowth	5340	PLG	OMIM:217090
HP:0000212	Gingival overgrowth	1281	COL3A1	ORPHA:286
HP:0000212	Gingival overgrowth	9839	ZEB2	ORPHA:261552
HP:0000212	Gingival overgrowth	9839	ZEB2	ORPHA:261537
HP:0000212	Gingival overgrowth	9509	ADAMTS2	OMIM:225410
HP:0000212	Gingival overgrowth	633	BGN	OMIM:300989
HP:0000212	Gingival overgrowth	5277	PIGA	OMIM:300868
HP:0000212	Gingival overgrowth	5277	PIGA	OMIM:301072
HP:0000212	Gingival overgrowth	23065	EMC1	OMIM:616875
HP:0000212	Gingival overgrowth	23065	EMC1	ORPHA:480898
HP:0000212	Gingival overgrowth	23461	ABCA5	ORPHA:2026
HP:0000212	Gingival overgrowth	23314	SATB2	OMIM:612313
HP:0000212	Gingival overgrowth	5978	REST	ORPHA:2024
HP:0000212	Gingival overgrowth	6654	SOS1	ORPHA:2024
HP:0000212	Gingival overgrowth	3782	KCNN3	OMIM:618658
HP:0000212	Gingival overgrowth	3425	IDUA	OMIM:607014
HP:0000212	Gingival overgrowth	175	AGA	ORPHA:93
HP:0000212	Gingival overgrowth	4247	MGAT2	OMIM:212066
HP:0000212	Gingival overgrowth	54496	PRMT7	ORPHA:464288
HP:0000212	Gingival overgrowth	50801	KCNK4	OMIM:618381
HP:0000212	Gingival overgrowth	157680	VPS13B	ORPHA:193
HP:0000212	Gingival overgrowth	57061	HYMAI	ORPHA:96191
HP:0000212	Gingival overgrowth	5325	PLAGL1	ORPHA:96191
HP:0000212	Gingival overgrowth	94005	PIGS	OMIM:618143
HP:0000212	Gingival overgrowth	1857	DVL3	ORPHA:3107
HP:0000212	Gingival overgrowth	1857	DVL3	OMIM:616894
HP:0000212	Gingival overgrowth	7474	WNT5A	ORPHA:3107
HP:0000212	Gingival overgrowth	7474	WNT5A	OMIM:180700
HP:0000212	Gingival overgrowth	2535	FZD2	ORPHA:3107
HP:0000212	Gingival overgrowth	9508	ADAMTS3	ORPHA:2136
HP:0000212	Gingival overgrowth	147372	CCBE1	ORPHA:2136
HP:0000212	Gingival overgrowth	147372	CCBE1	OMIM:235510
HP:0000212	Gingival overgrowth	79633	FAT4	ORPHA:2136
HP:0000212	Gingival overgrowth	117581	TWIST2	OMIM:209885
HP:0000212	Gingival overgrowth	8239	USP9X	ORPHA:480880
HP:0000212	Gingival overgrowth	6804	STX1A	ORPHA:904
HP:0000212	Gingival overgrowth	7461	CLIP2	ORPHA:904
HP:0000212	Gingival overgrowth	84277	DNAJC30	ORPHA:904
HP:0000212	Gingival overgrowth	8468	FKBP6	ORPHA:904
HP:0000212	Gingival overgrowth	5982	RFC2	ORPHA:904
HP:0000212	Gingival overgrowth	2969	GTF2I	ORPHA:904
HP:0000212	Gingival overgrowth	3984	LIMK1	ORPHA:904
HP:0000212	Gingival overgrowth	9569	GTF2IRD1	ORPHA:904
HP:0000212	Gingival overgrowth	155382	VPS37D	ORPHA:904
HP:0000212	Gingival overgrowth	155368	METTL27	ORPHA:904
HP:0000212	Gingival overgrowth	114049	BUD23	ORPHA:904
HP:0000212	Gingival overgrowth	7458	EIF4H	ORPHA:904
HP:0000212	Gingival overgrowth	84163	GTF2IRD2	ORPHA:904
HP:0000212	Gingival overgrowth	9275	BCL7B	ORPHA:904
HP:0000212	Gingival overgrowth	26608	TBL2	ORPHA:904
HP:0000212	Gingival overgrowth	653361	NCF1	ORPHA:904
HP:0000212	Gingival overgrowth	135886	TMEM270	ORPHA:904
HP:0000212	Gingival overgrowth	51085	MLXIPL	ORPHA:904
HP:0000212	Gingival overgrowth	9031	BAZ1B	ORPHA:904
HP:0000212	Gingival overgrowth	2006	ELN	ORPHA:904
HP:0000212	Gingival overgrowth	285590	SH3PXD2B	ORPHA:137834
HP:0000212	Gingival overgrowth	285590	SH3PXD2B	OMIM:249420
HP:0000212	Gingival overgrowth	54499	TMCO1	OMIM:213980
HP:0000212	Gingival overgrowth	10060	ABCC9	OMIM:239850
HP:0000212	Gingival overgrowth	23556	PIGN	ORPHA:280633
HP:0000212	Gingival overgrowth	253959	RALGAPA1	OMIM:618797
HP:0000212	Gingival overgrowth	51124	IER3IP1	OMIM:614231
HP:0000212	Gingival overgrowth	2263	FGFR2	OMIM:614592
HP:0000212	Gingival overgrowth	2263	FGFR2	OMIM:123790
HP:0000212	Gingival overgrowth	2263	FGFR2	ORPHA:313855
HP:0000212	Gingival overgrowth	1759	DNM1	OMIM:620352
HP:0000212	Gingival overgrowth	55343	SLC35C1	ORPHA:99843
HP:0000212	Gingival overgrowth	26503	SLC17A5	OMIM:269920
HP:0000212	Gingival overgrowth	2990	GUSB	OMIM:253220
HP:0000212	Gingival overgrowth	23219	FBXO28	OMIM:619777
HP:0000212	Gingival overgrowth	3930	LBR	OMIM:169400
HP:0000212	Gingival overgrowth	10225	CD96	ORPHA:1308
HP:0000212	Gingival overgrowth	3778	KCNMA1	OMIM:618729
HP:0000212	Gingival overgrowth	4313	MMP2	OMIM:259600
HP:0000212	Gingival overgrowth	2776	GNAQ	ORPHA:3205
HP:0000212	Gingival overgrowth	28962	OSTM1	OMIM:259720
HP:0000212	Gingival overgrowth	6774	STAT3	ORPHA:520
HP:0000212	Gingival overgrowth	5371	PML	ORPHA:520
HP:0000212	Gingival overgrowth	5914	RARA	ORPHA:520
HP:0000212	Gingival overgrowth	359948	IRF2BP2	ORPHA:520
HP:0000212	Gingival overgrowth	81608	FIP1L1	ORPHA:520
HP:0000212	Gingival overgrowth	4869	NPM1	ORPHA:520
HP:0000212	Gingival overgrowth	5573	PRKAR1A	ORPHA:520
HP:0000212	Gingival overgrowth	54880	BCOR	ORPHA:520
HP:0000212	Gingival overgrowth	64859	NABP1	ORPHA:520
HP:0000212	Gingival overgrowth	6777	STAT5B	ORPHA:520
HP:0000212	Gingival overgrowth	4926	NUMA1	ORPHA:520
HP:0000212	Gingival overgrowth	7704	ZBTB16	ORPHA:520
HP:0000212	Gingival overgrowth	79718	TBL1XR1	ORPHA:520
HP:0000212	Gingival overgrowth	10533	ATG7	OMIM:619422
HP:0000212	Gingival overgrowth	4921	DDR2	OMIM:618175
HP:0000212	Gingival overgrowth	55315	SLC29A3	ORPHA:168569
HP:0000212	Gingival overgrowth	2719	GPC3	OMIM:312870
HP:0000212	Gingival overgrowth	2239	GPC4	OMIM:312870
HP:0000212	Gingival overgrowth	81603	TRIM8	OMIM:619428
HP:0000196	Lower lip pit	7020	TFAP2A	OMIM:113620
HP:0000196	Lower lip pit	3664	IRF6	OMIM:119300
HP:0000196	Lower lip pit	3664	IRF6	ORPHA:888
HP:0000196	Lower lip pit	3664	IRF6	OMIM:119500
HP:0000196	Lower lip pit	7403	KDM6A	OMIM:300867
HP:0000196	Lower lip pit	57822	GRHL3	ORPHA:888
HP:0000197	Abnormal parotid gland morphology	6949	TCOF1	OMIM:154500
HP:0000197	Abnormal parotid gland morphology	2263	FGFR2	OMIM:149730
HP:0000197	Abnormal parotid gland morphology	8626	TP63	OMIM:604292
HP:0000197	Abnormal parotid gland morphology	56244	BTNL2	ORPHA:797
HP:0000197	Abnormal parotid gland morphology	3123	HLA-DRB1	ORPHA:797
HP:0000197	Abnormal parotid gland morphology	488	ATP2A2	OMIM:124200
HP:0000197	Abnormal parotid gland morphology	7852	CXCR4	ORPHA:51636
HP:0000197	Abnormal parotid gland morphology	5696	PSMB8	OMIM:256040
HP:0000198	Absence of Stensen duct	2263	FGFR2	OMIM:149730
HP:0000198	Absence of Stensen duct	8626	TP63	OMIM:604292
HP:0000199	Tongue nodules	1893	ECM1	ORPHA:530
HP:0000199	Tongue nodules	65250	CPLANE1	OMIM:277170
HP:0000199	Tongue nodules	65250	CPLANE1	ORPHA:2754
HP:0000199	Tongue nodules	8481	OFD1	OMIM:311200
HP:0000199	Tongue nodules	8481	OFD1	ORPHA:2750
HP:0000199	Tongue nodules	8481	OFD1	ORPHA:2754
HP:0000199	Tongue nodules	79005	SCNM1	OMIM:620107
HP:0000199	Tongue nodules	4750	NEK1	ORPHA:2751
HP:0000199	Tongue nodules	26123	TCTN3	OMIM:258860
HP:0000199	Tongue nodules	26123	TCTN3	ORPHA:2754
HP:0000199	Tongue nodules	5573	PRKAR1A	ORPHA:1359
HP:0000199	Tongue nodules	50940	PDE11A	ORPHA:1359
HP:0000199	Tongue nodules	10210	TOPORS	ORPHA:2754
HP:0000199	Tongue nodules	9851	KIAA0753	ORPHA:2754
HP:0000199	Tongue nodules	5147	PDE6D	ORPHA:2754
HP:0000199	Tongue nodules	51259	TMEM216	ORPHA:2754
HP:0000199	Tongue nodules	317662	FAM149B1	ORPHA:2754
HP:0000199	Tongue nodules	374654	KIF7	ORPHA:2754
HP:0000199	Tongue nodules	8241	RBM10	ORPHA:2886
HP:0000199	Tongue nodules	8241	RBM10	OMIM:311900
HP:0033204	Triceps hyperreflexia	10060	ABCC9	OMIM:619719
HP:0033206	Hyperactive Achilles reflex	55129	ANO10	OMIM:613728
HP:0033205	Biceps hyperreflexia	11160	ERLIN2	OMIM:611225
HP:0033208	Alveolar capillary dysplasia	2294	FOXF1	OMIM:265380
HP:0033208	Alveolar capillary dysplasia	64220	STRA6	OMIM:601186
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	5580	PRKCD	OMIM:615559
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	10125	RASGRP1	OMIM:618534
HP:0033210	Congenital alveolar dysplasia	7490	WT1	OMIM:608978
HP:0007361	Abnormal pons morphology	80184	CEP290	OMIM:610188
HP:0007361	Abnormal pons morphology	79042	TSEN34	ORPHA:2524
HP:0007361	Abnormal pons morphology	80746	TSEN2	ORPHA:2524
HP:0007361	Abnormal pons morphology	51091	SEPSECS	ORPHA:2524
HP:0007361	Abnormal pons morphology	6095	RORA	OMIM:618060
HP:0007361	Abnormal pons morphology	1213	CLTC	OMIM:617854
HP:0007361	Abnormal pons morphology	79152	FA2H	ORPHA:171629
HP:0007361	Abnormal pons morphology	27183	VPS4A	OMIM:619273
HP:0007361	Abnormal pons morphology	8813	DPM1	OMIM:608799
HP:0007361	Abnormal pons morphology	8813	DPM1	ORPHA:79322
HP:0007361	Abnormal pons morphology	23064	SETX	OMIM:606002
HP:0007361	Abnormal pons morphology	440193	CCDC88C	OMIM:616053
HP:0007361	Abnormal pons morphology	440193	CCDC88C	ORPHA:423275
HP:0007361	Abnormal pons morphology	3908	LAMA2	ORPHA:258
HP:0007361	Abnormal pons morphology	283989	TSEN54	ORPHA:166063
HP:0007361	Abnormal pons morphology	283989	TSEN54	OMIM:610204
HP:0007361	Abnormal pons morphology	29925	GMPPB	ORPHA:370959
HP:0007361	Abnormal pons morphology	79147	FKRP	ORPHA:370959
HP:0007361	Abnormal pons morphology	29954	POMT2	ORPHA:370959
HP:0007361	Abnormal pons morphology	84197	POMK	ORPHA:370959
HP:0007361	Abnormal pons morphology	55624	POMGNT1	ORPHA:370959
HP:0007361	Abnormal pons morphology	10585	POMT1	ORPHA:370959
HP:0007361	Abnormal pons morphology	114034	TOE1	ORPHA:284339
HP:0007361	Abnormal pons morphology	9562	MINPP1	ORPHA:284339
HP:0007361	Abnormal pons morphology	5518	PPP2R1A	ORPHA:457284
HP:0007361	Abnormal pons morphology	6311	ATXN2	ORPHA:98756
HP:0007361	Abnormal pons morphology	25914	RTTN	ORPHA:468631
HP:0007361	Abnormal pons morphology	5373	PMM2	OMIM:212065
HP:0007361	Abnormal pons morphology	5277	PIGA	OMIM:300868
HP:0007361	Abnormal pons morphology	2581	GALC	ORPHA:206448
HP:0007361	Abnormal pons morphology	1605	DAG1	ORPHA:370997
HP:0007361	Abnormal pons morphology	3417	IDH1	ORPHA:99646
HP:0007361	Abnormal pons morphology	2313	FLI1	ORPHA:370348
HP:0007361	Abnormal pons morphology	54806	AHI1	OMIM:608629
HP:0007361	Abnormal pons morphology	79848	CSPP1	ORPHA:397715
HP:0007361	Abnormal pons morphology	79848	CSPP1	OMIM:615636
HP:0007361	Abnormal pons morphology	9786	KIAA0586	ORPHA:397715
HP:0007361	Abnormal pons morphology	403	ARL3	OMIM:618161
HP:0007361	Abnormal pons morphology	284217	LAMA1	ORPHA:370022
HP:0007361	Abnormal pons morphology	51259	TMEM216	OMIM:608091
HP:0007361	Abnormal pons morphology	56623	INPP5E	OMIM:213300
HP:0007361	Abnormal pons morphology	91147	TMEM67	OMIM:610688
HP:0007361	Abnormal pons morphology	1182	CLCN3	OMIM:619512
HP:0007361	Abnormal pons morphology	4867	NPHP1	OMIM:609583
HP:0007361	Abnormal pons morphology	55773	TBC1D23	OMIM:617695
HP:0007361	Abnormal pons morphology	94005	PIGS	OMIM:618143
HP:0007361	Abnormal pons morphology	2972	BRF1	OMIM:616202
HP:0007361	Abnormal pons morphology	2972	BRF1	ORPHA:444072
HP:0007361	Abnormal pons morphology	8573	CASK	OMIM:300749
HP:0007361	Abnormal pons morphology	11340	EXOSC8	ORPHA:2254
HP:0007361	Abnormal pons morphology	5393	EXOSC9	ORPHA:2254
HP:0007361	Abnormal pons morphology	23287	AGTPBP1	ORPHA:2254
HP:0007361	Abnormal pons morphology	23287	AGTPBP1	OMIM:618276
HP:0007361	Abnormal pons morphology	51010	EXOSC3	ORPHA:2254
HP:0007361	Abnormal pons morphology	7443	VRK1	ORPHA:2254
HP:0007361	Abnormal pons morphology	7443	VRK1	OMIM:607596
HP:0007361	Abnormal pons morphology	91137	SLC25A46	ORPHA:2254
HP:0007361	Abnormal pons morphology	91137	SLC25A46	OMIM:619303
HP:0007361	Abnormal pons morphology	85440	DOCK7	ORPHA:411986
HP:0007361	Abnormal pons morphology	85440	DOCK7	OMIM:615859
HP:0007361	Abnormal pons morphology	5649	RELN	OMIM:257320
HP:0007361	Abnormal pons morphology	23126	POGZ	ORPHA:468678
HP:0007361	Abnormal pons morphology	9289	ADGRG1	ORPHA:101070
HP:0007361	Abnormal pons morphology	9289	ADGRG1	OMIM:606854
HP:0007361	Abnormal pons morphology	5728	PTEN	ORPHA:101070
HP:0007361	Abnormal pons morphology	724066	ATXN8	ORPHA:98760
HP:0007361	Abnormal pons morphology	6315	ATXN8OS	ORPHA:98760
HP:0007361	Abnormal pons morphology	10733	PLK4	OMIM:616171
HP:0007361	Abnormal pons morphology	51112	TRAPPC12	ORPHA:500144
HP:0007361	Abnormal pons morphology	51112	TRAPPC12	OMIM:617669
HP:0007361	Abnormal pons morphology	116461	TSEN15	OMIM:617026
HP:0007361	Abnormal pons morphology	1630	DCC	OMIM:617542
HP:0007361	Abnormal pons morphology	28514	DLL1	ORPHA:280195
HP:0007361	Abnormal pons morphology	2253	FGF8	ORPHA:280195
HP:0007361	Abnormal pons morphology	6496	SIX3	ORPHA:280195
HP:0007361	Abnormal pons morphology	7050	TGIF1	ORPHA:280195
HP:0007361	Abnormal pons morphology	4838	NODAL	ORPHA:280195
HP:0007361	Abnormal pons morphology	6469	SHH	ORPHA:280195
HP:0007361	Abnormal pons morphology	7546	ZIC2	ORPHA:280195
HP:0007361	Abnormal pons morphology	6491	STIL	ORPHA:280195
HP:0007361	Abnormal pons morphology	2619	GAS1	ORPHA:280195
HP:0007361	Abnormal pons morphology	84976	DISP1	ORPHA:280195
HP:0007361	Abnormal pons morphology	2736	GLI2	ORPHA:280195
HP:0007361	Abnormal pons morphology	8928	FOXH1	ORPHA:280195
HP:0007361	Abnormal pons morphology	5727	PTCH1	ORPHA:280195
HP:0007361	Abnormal pons morphology	50937	CDON	ORPHA:280195
HP:0007361	Abnormal pons morphology	473	RERE	OMIM:616975
HP:0007361	Abnormal pons morphology	4190	MDH1	OMIM:618959
HP:0007361	Abnormal pons morphology	10297	APC2	OMIM:618677
HP:0007361	Abnormal pons morphology	4081	MAB21L1	OMIM:618479
HP:0007361	Abnormal pons morphology	29072	SETD2	OMIM:620157
HP:0007361	Abnormal pons morphology	29072	SETD2	OMIM:620155
HP:0007361	Abnormal pons morphology	64221	ROBO3	OMIM:607313
HP:0007361	Abnormal pons morphology	271	AMPD2	OMIM:615809
HP:0007361	Abnormal pons morphology	57231	SNX14	ORPHA:397709
HP:0007361	Abnormal pons morphology	6595	SMARCA2	OMIM:619293
HP:0007361	Abnormal pons morphology	347733	TUBB2B	ORPHA:467166
HP:0007361	Abnormal pons morphology	347733	TUBB2B	ORPHA:300573
HP:0007361	Abnormal pons morphology	7846	TUBA1A	ORPHA:467166
HP:0007361	Abnormal pons morphology	10381	TUBB3	ORPHA:467166
HP:0007361	Abnormal pons morphology	440	ASNS	OMIM:615574
HP:0007361	Abnormal pons morphology	9215	LARGE1	OMIM:613154
HP:0007361	Abnormal pons morphology	10273	STUB1	ORPHA:412057
HP:0007361	Abnormal pons morphology	738	VPS51	OMIM:618606
HP:0007361	Abnormal pons morphology	23499	MACF1	OMIM:618325
HP:0007361	Abnormal pons morphology	9439	MED23	OMIM:614249
HP:0007361	Abnormal pons morphology	10195	ALG3	ORPHA:79321
HP:0007361	Abnormal pons morphology	148789	B3GALNT2	OMIM:615181
HP:0007361	Abnormal pons morphology	191	AHCY	ORPHA:88618
HP:0007361	Abnormal pons morphology	51645	PPIL1	OMIM:619301
HP:0007361	Abnormal pons morphology	8884	SLC5A6	OMIM:618973
HP:0007361	Abnormal pons morphology	92935	MARS2	OMIM:616430
HP:0007361	Abnormal pons morphology	7471	WNT1	OMIM:615220
HP:0007361	Abnormal pons morphology	7545	ZIC1	OMIM:618736
HP:0007361	Abnormal pons morphology	10243	GPHN	OMIM:615501
HP:0007361	Abnormal pons morphology	9181	ARHGEF2	OMIM:617523
HP:0007361	Abnormal pons morphology	51013	EXOSC1	OMIM:619304
HP:0007361	Abnormal pons morphology	7319	UBE2A	ORPHA:163956
HP:0007361	Abnormal pons morphology	57724	EPG5	ORPHA:1493
HP:0007361	Abnormal pons morphology	27445	PCLO	OMIM:608027
HP:0007361	Abnormal pons morphology	5297	PI4KA	OMIM:619708
HP:0007361	Abnormal pons morphology	59336	PRDM13	OMIM:619909
HP:0007361	Abnormal pons morphology	26278	SACS	OMIM:270550
HP:0007362	Aplasia/Hypoplasia of the brainstem	23265	EXOC7	OMIM:619072
HP:0007362	Aplasia/Hypoplasia of the brainstem	11113	CIT	OMIM:617090
HP:0007362	Aplasia/Hypoplasia of the brainstem	3912	LAMB1	OMIM:615191
HP:0007362	Aplasia/Hypoplasia of the brainstem	3912	LAMB1	ORPHA:352682
HP:0007362	Aplasia/Hypoplasia of the brainstem	1281	COL3A1	OMIM:618343
HP:0007362	Aplasia/Hypoplasia of the brainstem	80347	COASY	OMIM:618266
HP:0007362	Aplasia/Hypoplasia of the brainstem	84879	MFSD2A	OMIM:616486
HP:0007362	Aplasia/Hypoplasia of the brainstem	1859	DYRK1A	ORPHA:268261
HP:0007362	Aplasia/Hypoplasia of the brainstem	160418	TMTC3	OMIM:617255
HP:0007362	Aplasia/Hypoplasia of the brainstem	26128	KIFBP	OMIM:609460
HP:0007362	Aplasia/Hypoplasia of the brainstem	8573	CASK	OMIM:300749
HP:0007362	Aplasia/Hypoplasia of the brainstem	79848	CSPP1	OMIM:615636
HP:0007362	Aplasia/Hypoplasia of the brainstem	8239	USP9X	ORPHA:480880
HP:0007362	Aplasia/Hypoplasia of the brainstem	3839	KPNA3	OMIM:620106
HP:0007362	Aplasia/Hypoplasia of the brainstem	55627	SMPD4	OMIM:618622
HP:0007362	Aplasia/Hypoplasia of the brainstem	51807	TUBA8	ORPHA:250972
HP:0007362	Aplasia/Hypoplasia of the brainstem	65062	TMEM237	OMIM:614424
HP:0007362	Aplasia/Hypoplasia of the brainstem	55624	POMGNT1	OMIM:253280
HP:0007362	Aplasia/Hypoplasia of the brainstem	55624	POMGNT1	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	51259	TMEM216	OMIM:608091
HP:0007362	Aplasia/Hypoplasia of the brainstem	56623	INPP5E	OMIM:213300
HP:0007362	Aplasia/Hypoplasia of the brainstem	2218	FKTN	OMIM:253800
HP:0007362	Aplasia/Hypoplasia of the brainstem	2218	FKTN	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	84942	WDR73	OMIM:251300
HP:0007362	Aplasia/Hypoplasia of the brainstem	4784	NFIX	ORPHA:420179
HP:0007362	Aplasia/Hypoplasia of the brainstem	55165	CEP55	OMIM:236500
HP:0007362	Aplasia/Hypoplasia of the brainstem	9289	ADGRG1	ORPHA:101070
HP:0007362	Aplasia/Hypoplasia of the brainstem	9289	ADGRG1	OMIM:606854
HP:0007362	Aplasia/Hypoplasia of the brainstem	5728	PTEN	ORPHA:101070
HP:0007362	Aplasia/Hypoplasia of the brainstem	5727	PTCH1	OMIM:610828
HP:0007362	Aplasia/Hypoplasia of the brainstem	29925	GMPPB	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	OMIM:613153
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	OMIM:613150
HP:0007362	Aplasia/Hypoplasia of the brainstem	84197	POMK	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	84197	POMK	OMIM:615249
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	OMIM:613155
HP:0007362	Aplasia/Hypoplasia of the brainstem	2972	BRF1	ORPHA:444072
HP:0007362	Aplasia/Hypoplasia of the brainstem	5162	PDHB	ORPHA:255138
HP:0007362	Aplasia/Hypoplasia of the brainstem	5515	PPP2CA	OMIM:618354
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	OMIM:225753
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	ORPHA:166063
HP:0007362	Aplasia/Hypoplasia of the brainstem	11041	B4GAT1	OMIM:615287
HP:0007362	Aplasia/Hypoplasia of the brainstem	22983	MAST1	OMIM:618273
HP:0007362	Aplasia/Hypoplasia of the brainstem	55640	FLVCR2	OMIM:225790
HP:0007362	Aplasia/Hypoplasia of the brainstem	84162	BLTP1	OMIM:617822
HP:0007362	Aplasia/Hypoplasia of the brainstem	116461	TSEN15	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	79042	TSEN34	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	80746	TSEN2	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	80746	TSEN2	OMIM:612389
HP:0007362	Aplasia/Hypoplasia of the brainstem	51091	SEPSECS	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	347733	TUBB2B	OMIM:610031
HP:0007362	Aplasia/Hypoplasia of the brainstem	23322	RPGRIP1L	OMIM:611560
HP:0007362	Aplasia/Hypoplasia of the brainstem	4552	MTRR	ORPHA:2169
HP:0007362	Aplasia/Hypoplasia of the brainstem	7280	TUBB2A	OMIM:615763
HP:0007362	Aplasia/Hypoplasia of the brainstem	10297	APC2	OMIM:618677
HP:0007362	Aplasia/Hypoplasia of the brainstem	10381	TUBB3	OMIM:614039
HP:0007362	Aplasia/Hypoplasia of the brainstem	10381	TUBB3	ORPHA:300570
HP:0007362	Aplasia/Hypoplasia of the brainstem	9440	MED17	OMIM:613668
HP:0007362	Aplasia/Hypoplasia of the brainstem	5048	PAFAH1B1	OMIM:607432
HP:0007362	Aplasia/Hypoplasia of the brainstem	84919	PPP1R15B	OMIM:616817
HP:0007362	Aplasia/Hypoplasia of the brainstem	84919	PPP1R15B	ORPHA:391408
HP:0007362	Aplasia/Hypoplasia of the brainstem	93587	TRMT10A	ORPHA:391408
HP:0007362	Aplasia/Hypoplasia of the brainstem	54820	NDE1	OMIM:605013
HP:0007362	Aplasia/Hypoplasia of the brainstem	7846	TUBA1A	OMIM:611603
HP:0007362	Aplasia/Hypoplasia of the brainstem	7846	TUBA1A	ORPHA:171680
HP:0007362	Aplasia/Hypoplasia of the brainstem	9215	LARGE1	OMIM:608840
HP:0007362	Aplasia/Hypoplasia of the brainstem	9215	LARGE1	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	2271	FH	OMIM:606812
HP:0007362	Aplasia/Hypoplasia of the brainstem	63895	PIEZO2	OMIM:248700
HP:0007362	Aplasia/Hypoplasia of the brainstem	4621	MYH3	OMIM:193700
HP:0007362	Aplasia/Hypoplasia of the brainstem	203068	TUBB	OMIM:615771
HP:0007362	Aplasia/Hypoplasia of the brainstem	29920	PYCR2	OMIM:616420
HP:0007362	Aplasia/Hypoplasia of the brainstem	29920	PYCR2	ORPHA:481152
HP:0007362	Aplasia/Hypoplasia of the brainstem	5879	RAC1	OMIM:617751
HP:0007362	Aplasia/Hypoplasia of the brainstem	5879	RAC1	ORPHA:500159
HP:0007362	Aplasia/Hypoplasia of the brainstem	111	ADCY5	OMIM:619651
HP:0007362	Aplasia/Hypoplasia of the brainstem	9786	KIAA0586	OMIM:616546
HP:0007362	Aplasia/Hypoplasia of the brainstem	5119	CHMP1A	OMIM:614961
HP:0007362	Aplasia/Hypoplasia of the brainstem	729920	CRPPA	OMIM:614643
HP:0007362	Aplasia/Hypoplasia of the brainstem	1778	DYNC1H1	OMIM:614563
HP:0007362	Aplasia/Hypoplasia of the brainstem	7436	VLDLR	OMIM:224050
HP:0007362	Aplasia/Hypoplasia of the brainstem	23499	MACF1	OMIM:618325
HP:0007362	Aplasia/Hypoplasia of the brainstem	2019	EN1	OMIM:619218
HP:0007362	Aplasia/Hypoplasia of the brainstem	114034	TOE1	OMIM:614969
HP:0007362	Aplasia/Hypoplasia of the brainstem	114034	TOE1	ORPHA:284339
HP:0007362	Aplasia/Hypoplasia of the brainstem	91147	TMEM67	OMIM:610688
HP:0007362	Aplasia/Hypoplasia of the brainstem	84081	NSRP1	OMIM:620001
HP:0007362	Aplasia/Hypoplasia of the brainstem	1781	DYNC1I2	OMIM:618492
HP:0007362	Aplasia/Hypoplasia of the brainstem	148789	B3GALNT2	OMIM:615181
HP:0007362	Aplasia/Hypoplasia of the brainstem	9562	MINPP1	ORPHA:284339
HP:0007362	Aplasia/Hypoplasia of the brainstem	171023	ASXL1	OMIM:605039
HP:0007362	Aplasia/Hypoplasia of the brainstem	51645	PPIL1	OMIM:619301
HP:0007362	Aplasia/Hypoplasia of the brainstem	51362	CDC40	OMIM:619302
HP:0007362	Aplasia/Hypoplasia of the brainstem	51075	TMX2	OMIM:618730
HP:0007362	Aplasia/Hypoplasia of the brainstem	1496	CTNNA2	OMIM:618174
HP:0007362	Aplasia/Hypoplasia of the brainstem	10352	WARS2	ORPHA:572798
HP:0007362	Aplasia/Hypoplasia of the brainstem	55770	EXOC2	OMIM:619306
HP:0007362	Aplasia/Hypoplasia of the brainstem	27445	PCLO	OMIM:608027
HP:0007362	Aplasia/Hypoplasia of the brainstem	9230	RAB11B	OMIM:617807
HP:0007362	Aplasia/Hypoplasia of the brainstem	389827	MYMK	OMIM:254940
HP:0007362	Aplasia/Hypoplasia of the brainstem	59336	PRDM13	OMIM:619909
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	2218	FKTN	OMIM:253800
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	477	ATP1A2	OMIM:619602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1718	DHCR24	OMIM:602398
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1718	DHCR24	ORPHA:35107
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4524	MTHFR	ORPHA:395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4524	MTHFR	OMIM:236250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23394	ADNP	ORPHA:404448
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51399	TRAPPC4	OMIM:618741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1139	CHRNA7	ORPHA:199318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51569	UFM1	OMIM:617899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10059	DNM1L	OMIM:614388
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6228	RPS23	OMIM:617412
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7360	UGP2	OMIM:618744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5932	RBBP8	OMIM:606744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5932	RBBP8	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	OMIM:616570
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	OMIM:278780
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283489	CHAMP1	OMIM:616579
HP:0007364	Aplasia/Hypoplasia of the cerebrum	478	ATP1A3	OMIM:619606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	478	ATP1A3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	166378	AFG2A	OMIM:616577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	477	ATP1A2	OMIM:619602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	477	ATP1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6595	SMARCA2	ORPHA:2728
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6595	SMARCA2	OMIM:601358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6595	SMARCA2	ORPHA:3051
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84520	GON7	OMIM:619603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79693	YRDC	OMIM:619609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	OMIM:616586
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	ORPHA:447760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	OMIM:616603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6884	TAF13	OMIM:617432
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6884	TAF13	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79029	AFG2B	OMIM:619616
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10111	RAD50	OMIM:613078
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55681	SCYL2	OMIM:618766
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85465	SELENOI	OMIM:618768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85465	SELENOI	ORPHA:506353
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5191	PEX7	OMIM:215100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:1865
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	OMIM:224410
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171023	ASXL1	ORPHA:97297
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171023	ASXL1	OMIM:605039
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5813	PURA	ORPHA:438216
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89910	UBE3B	ORPHA:2707
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89910	UBE3B	OMIM:244450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5373	PMM2	OMIM:212065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1499	CTNNB1	ORPHA:404473
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1499	CTNNB1	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55131	RBM28	ORPHA:157954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55131	RBM28	OMIM:612079
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:615272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:610965
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:278760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55768	NGLY1	OMIM:615273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55621	TRMT1	OMIM:618302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	OMIM:241410
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	ORPHA:2323
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	ORPHA:93324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51633	OTUD6B	OMIM:617452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51633	OTUD6B	ORPHA:505237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9289	ADGRG1	ORPHA:101070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9289	ADGRG1	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5728	PTEN	ORPHA:101070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	OMIM:610828
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	OMIM:610829
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79718	TBL1XR1	OMIM:602342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54828	BCAS3	OMIM:619641
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6305	SBF1	OMIM:615284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3800	KIF5C	OMIM:615282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2232	FDXR	ORPHA:543470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7358	UGDH	OMIM:618792
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113179	ADAT3	OMIM:615286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113179	ADAT3	ORPHA:363528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2904	GRIN2B	OMIM:616139
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2904	GRIN2B	OMIM:613970
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200424	TET3	OMIM:618798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79971	WLS	OMIM:619648
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79728	PALB2	OMIM:610832
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79728	PALB2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56975	FAM20C	ORPHA:1832
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56975	FAM20C	OMIM:259775
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5917	RARS1	OMIM:616140
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5917	RARS1	ORPHA:438114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54916	TMEM260	OMIM:617478
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25836	NIPBL	OMIM:122470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25836	NIPBL	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23499	MACF1	OMIM:618325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:1824
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:353298
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:226960
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:210710
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:616651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:2636
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58497	PRUNE1	OMIM:617481
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58497	PRUNE1	ORPHA:544469
HP:0007364	Aplasia/Hypoplasia of the cerebrum	120	ADD3	OMIM:617008
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5426	POLE	OMIM:618336
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3480	IGF1R	ORPHA:73273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3480	IGF1R	OMIM:270450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3479	IGF1	ORPHA:73272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3479	IGF1	OMIM:608747
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3155	HMGCL	ORPHA:20
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3155	HMGCL	OMIM:246450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2775	GNAO1	OMIM:617493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2775	GNAO1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	OMIM:618346
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	OMIM:618347
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4598	MVK	ORPHA:29
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4598	MVK	OMIM:610377
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54517	PUS7	OMIM:618342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1798	DPAGT1	OMIM:608093
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1798	DPAGT1	ORPHA:86309
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	OMIM:618348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55746	NUP133	OMIM:618349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55746	NUP133	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56623	INPP5E	OMIM:213300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56945	MRPS22	OMIM:611719
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56945	MRPS22	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27125	AFF4	ORPHA:444077
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27125	AFF4	OMIM:616368
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5575	PRKAR1B	OMIM:619680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	OMIM:616171
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2972	BRF1	ORPHA:444072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2972	BRF1	OMIM:616202
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5515	PPP2CA	OMIM:618354
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23114	NFASC	OMIM:618356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	154881	KCTD7	OMIM:611726
HP:0007364	Aplasia/Hypoplasia of the cerebrum	154881	KCTD7	ORPHA:263516
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:363623
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615352
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	OMIM:606612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:613150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:613156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:609308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:86812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:613155
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55777	MBD5	OMIM:156200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55777	MBD5	ORPHA:228402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	ORPHA:300573
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	OMIM:610031
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	OMIM:611603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	ORPHA:171680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10381	TUBB3	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10381	TUBB3	OMIM:614039
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84340	GFM2	ORPHA:565624
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84340	GFM2	OMIM:618397
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10588	MTHFS	OMIM:618367
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	OMIM:600118
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	OMIM:619420
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	ORPHA:1387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2334	AFF2	OMIM:309548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92255	LMBRD2	OMIM:619694
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	OMIM:619695
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	267010	RNU12	OMIM:620208
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3054	HCFC1	OMIM:309541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201163	FLCN	OMIM:610883
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2019	EN1	OMIM:619218
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3431	SP110	OMIM:235550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3431	SP110	ORPHA:79124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51608	GET4	OMIM:620200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7703	PCGF2	OMIM:618371
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23111	SPART	ORPHA:101000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6390	SDHB	OMIM:619224
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11342	RNF13	OMIM:618379
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11342	RNF13	ORPHA:544503
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8802	SUCLG1	ORPHA:17
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4613	MYCN	OMIM:164280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4613	MYCN	ORPHA:391641
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51729	WBP11	OMIM:619227
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6304	SATB1	OMIM:619228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6304	SATB1	OMIM:619229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	729920	CRPPA	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	729920	CRPPA	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2697	GJA1	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2697	GJA1	OMIM:164200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2707	GJB3	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2531	KDSR	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	127534	GJB4	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3028	HSD17B10	ORPHA:391428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8943	AP3D1	OMIM:617050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	ORPHA:589618
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	OMIM:619934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	OMIM:617284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84265	POLR3GL	OMIM:619234
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134218	DNAJC21	OMIM:617052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27107	ZBTB11	OMIM:618383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8452	CUL3	OMIM:619239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6608	SMO	OMIM:241800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	OMIM:253280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	OMIM:613151
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	OMIM:308205
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	ORPHA:85284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	ORPHA:2273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1457	CSNK2A1	OMIM:617062
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7204	TRIO	OMIM:617061
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203068	TUBB	OMIM:156610
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203068	TUBB	ORPHA:2505
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55640	FLVCR2	OMIM:225790
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23112	TNRC6B	OMIM:619243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91875	TTC5	OMIM:619244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	OMIM:618709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	OMIM:157170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	OMIM:142945
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	OMIM:147250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	OMIM:609637
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	OMIM:614226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8450	CUL4B	ORPHA:85293
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55717	WDR11	OMIM:620237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93587	TRMT10A	ORPHA:391408
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93587	TRMT10A	OMIM:616033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84919	PPP1R15B	ORPHA:391408
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84919	PPP1R15B	OMIM:616817
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201595	STT3B	ORPHA:370924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201595	STT3B	OMIM:615597
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10436	EMG1	OMIM:211180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10436	EMG1	ORPHA:1270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6748	SSR4	ORPHA:370927
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6748	SSR4	OMIM:300934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	OMIM:309500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10479	SLC9A6	ORPHA:85278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10479	SLC9A6	OMIM:300243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8242	KDM5C	ORPHA:85279
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8242	KDM5C	OMIM:300534
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1315	COPB1	OMIM:619255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89970	RSPRY1	ORPHA:457395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89970	RSPRY1	OMIM:616723
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	OMIM:612621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:544254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54187	NANS	OMIM:610442
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84464	SLX4	OMIM:613951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84464	SLX4	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	OMIM:610443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	ORPHA:363958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	ORPHA:363965
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1968	EIF2S3	ORPHA:85282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1968	EIF2S3	OMIM:300148
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81615	TMEM163	OMIM:620243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64131	XYLT1	ORPHA:370930
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64131	XYLT1	OMIM:615777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116150	NUS1	OMIM:617082
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116150	NUS1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55181	SMG8	OMIM:619268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25886	POC1A	OMIM:614813
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3516	RBPJ	OMIM:614814
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5138	PDE2A	OMIM:619150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128	ADH5	OMIM:619151
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64374	SIL1	OMIM:248800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64374	SIL1	ORPHA:559
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6535	SLC6A8	OMIM:300352
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6535	SLC6A8	ORPHA:52503
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26960	NBEA	OMIM:619157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6309	SC5D	ORPHA:46059
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6309	SC5D	OMIM:607330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26128	KIFBP	OMIM:609460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26128	KIFBP	ORPHA:66629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5885	RAD21	OMIM:614701
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5885	RAD21	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	781	CACNA2D1	OMIM:620149
HP:0007364	Aplasia/Hypoplasia of the cerebrum	781	CACNA2D1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7518	XRCC4	ORPHA:99812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7518	XRCC4	OMIM:616541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	ORPHA:99812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	ORPHA:235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	OMIM:606593
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80144	FRAS1	OMIM:219000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80144	FRAS1	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10093	ARPC4	OMIM:620141
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4784	NFIX	ORPHA:447980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	613	BCR	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1399	CRKL	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5594	MAPK1	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5594	MAPK1	OMIM:619087
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9640	ZNF592	ORPHA:83472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	ORPHA:83472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	OMIM:251300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	224	ALDH3A2	ORPHA:816
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2314	FLII	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10743	RAI1	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10743	RAI1	ORPHA:1713
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10522	DEAF1	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10522	DEAF1	ORPHA:468620
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1717	DHCR7	ORPHA:818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1717	DHCR7	OMIM:270400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29072	SETD2	OMIM:620157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29072	SETD2	OMIM:620155
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150468	CKAP2L	ORPHA:3255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150468	CKAP2L	OMIM:272440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3242	HPD	OMIM:140350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	338657	CENATAC	OMIM:620153
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25778	DSTYK	OMIM:270750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	ORPHA:263501
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	OMIM:613489
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	ORPHA:85172
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56992	KIF15	ORPHA:261323
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56992	KIF15	OMIM:619981
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4718	NDUFC2	OMIM:619170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1738	DLD	ORPHA:2394
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1738	DLD	OMIM:246900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4001	LMNB1	OMIM:619179
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4001	LMNB1	ORPHA:2514
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92579	G6PC3	OMIM:612541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93627	TBCK	OMIM:616900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93627	TBCK	ORPHA:488632
HP:0007364	Aplasia/Hypoplasia of the cerebrum	672	BRCA1	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	672	BRCA1	OMIM:617883
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10459	MAD2L2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10459	MAD2L2	OMIM:617243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7516	XRCC2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7516	XRCC2	OMIM:617247
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29089	UBE2T	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	675	BRCA2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	675	BRCA2	OMIM:605724
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55120	FANCL	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2177	FANCD2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2177	FANCD2	OMIM:227646
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2175	FANCA	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2175	FANCA	OMIM:227650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2187	FANCB	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2176	FANCC	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2176	FANCC	OMIM:227645
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2178	FANCE	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2178	FANCE	OMIM:600901
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2188	FANCF	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2188	FANCF	OMIM:603467
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2189	FANCG	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2189	FANCG	OMIM:614082
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5888	RAD51	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5888	RAD51	OMIM:617244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5889	RAD51C	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55159	RFWD3	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55159	RFWD3	OMIM:617784
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83990	BRIP1	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57697	FANCM	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55215	FANCI	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55215	FANCI	OMIM:609053
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	ORPHA:847
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	OMIM:309580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	OMIM:301040
HP:0007364	Aplasia/Hypoplasia of the cerebrum	222663	SCUBE3	OMIM:619184
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10367	MICU1	ORPHA:401768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10367	MICU1	OMIM:615673
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9184	BUB3	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	699	BUB1	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9702	CEP57	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9702	CEP57	OMIM:614114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9319	TRIP13	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9319	TRIP13	OMIM:617598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	701	BUB1B	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	701	BUB1B	OMIM:257300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23036	ZNF292	OMIM:619188
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79867	TCTN2	OMIM:613885
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79867	TCTN2	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63894	VIPAS39	OMIM:613404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83879	CDCA7	OMIM:616910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25942	SIN3A	OMIM:613406
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25942	SIN3A	ORPHA:94065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53834	FGFRL1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1487	CTBP1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1487	CTBP1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3954	LETM1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3954	LETM1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10815	CPLX1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10815	CPLX1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84947	SERAC1	OMIM:614739
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54084	TSPEAR	OMIM:620173
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5447	POR	OMIM:201750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56006	SMG9	OMIM:616920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91754	NEK9	ORPHA:64754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84720	PIGO	OMIM:614749
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23345	SYNE1	ORPHA:319332
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3675	ITGA3	OMIM:614748
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5649	RELN	OMIM:257320
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23137	SMC5	OMIM:620185
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55343	SLC35C1	OMIM:266265
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55343	SLC35C1	ORPHA:99843
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79759	ZNF668	OMIM:620194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1737	DLAT	OMIM:245348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1737	DLAT	ORPHA:79244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8050	PDHX	OMIM:245349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8050	PDHX	ORPHA:255182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	ORPHA:85201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	OMIM:606170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	OMIM:603736
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	ORPHA:3047
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6605	SMARCE1	OMIM:616938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6605	SMARCE1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	388015	RTL1	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8788	DLK1	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55384	MEG3	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158	ADSL	ORPHA:46
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158	ADSL	OMIM:103050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	415	ARSL	OMIM:302950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81887	LAS1L	OMIM:309585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	545	ATR	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	545	ATR	OMIM:210600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1062	CENPE	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1062	CENPE	OMIM:616051
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	OMIM:210720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	ORPHA:2637
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79902	NUP85	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84126	ATRIP	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CENPJ	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CENPJ	OMIM:608393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CENPJ	OMIM:613676
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CENPJ	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10293	TRAIP	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10293	TRAIP	OMIM:616777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	OMIM:613823
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	OMIM:614852
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2961	GTF2E2	OMIM:616943
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2961	GTF2E2	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51567	TDP2	OMIM:616949
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6567	SLC16A2	ORPHA:59
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6567	SLC16A2	OMIM:300523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	OMIM:617800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	OMIM:619884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	ORPHA:1497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	OMIM:304100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	OMIM:303350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22907	DHX30	OMIM:617804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9990	SLC12A6	ORPHA:1496
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9894	TELO2	OMIM:616954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9230	RAB11B	OMIM:617807
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25939	SAMHD1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25939	SAMHD1	OMIM:612952
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79621	RNASEH2B	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79621	RNASEH2B	OMIM:610181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	103	ADAR	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	103	ADAR	OMIM:615010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100147744	RNU7-1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100147744	RNU7-1	OMIM:619487
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134353	LSM11	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64135	IFIH1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64135	IFIH1	OMIM:615846
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10075	HUWE1	OMIM:309590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60529	ALX4	OMIM:613451
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29123	ANKRD11	ORPHA:2332
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29123	ANKRD11	OMIM:148050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9759	HDAC4	ORPHA:1001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	473	RERE	OMIM:616975
HP:0007364	Aplasia/Hypoplasia of the cerebrum	473	RERE	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1806	DPYD	OMIM:274270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1806	DPYD	ORPHA:1675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8085	KMT2D	ORPHA:2322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8085	KMT2D	OMIM:147920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	ORPHA:2322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	OMIM:300867
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	OMIM:147920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3097	HIVEP2	OMIM:616977
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54820	NDE1	OMIM:605013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9837	GINS1	OMIM:617827
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79840	NHEJ1	ORPHA:169079
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55906	ZC4H2	OMIM:314580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55906	ZC4H2	OMIM:301041
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:610756
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:601675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:278730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2067	ERCC1	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2067	ERCC1	OMIM:610758
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6597	SMARCA4	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6597	SMARCA4	OMIM:614609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6598	SMARCB1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6598	SMARCB1	OMIM:614608
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6659	SOX4	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6659	SOX4	OMIM:618506
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8289	ARID1A	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8289	ARID1A	OMIM:614607
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5977	DPF2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6601	SMARCC2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6602	SMARCD1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	ORPHA:251056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	OMIM:135900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	196528	ARID2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6664	SOX11	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6664	SOX11	OMIM:615866
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134701	RIPPLY2	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10683	DLL3	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3955	LFNG	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84667	HES7	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145873	MESP2	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	ORPHA:2319
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	OMIM:268300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	OMIM:216100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	ORPHA:3103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197131	UBR1	ORPHA:2315
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197131	UBR1	OMIM:243800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5723	PSPH	ORPHA:79350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5723	PSPH	OMIM:614023
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26227	PHGDH	ORPHA:79351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6638	SNRPN	ORPHA:177907
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64840	PORCN	OMIM:305600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55180	LINS1	OMIM:614340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80152	CENPT	OMIM:618702
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6697	SPR	ORPHA:70594
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6697	SPR	OMIM:612716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	ORPHA:435938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	OMIM:300998
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	ORPHA:459070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	953	ENTPD1	OMIM:615683
HP:0007364	Aplasia/Hypoplasia of the cerebrum	953	ENTPD1	ORPHA:401810
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2893	GRIA4	OMIM:617864
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84628	NTNG2	OMIM:618718
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55691	FRMD4A	ORPHA:466688
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54802	TRIT1	OMIM:617873
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55733	HHAT	ORPHA:1422
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55733	HHAT	OMIM:600092
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4724	NDUFS4	OMIM:252010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4724	NDUFS4	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	OMIM:190440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	OMIM:615465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	OMIM:301043
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	OMIM:301022
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	OMIM:300590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	OMIM:301044
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84700	MYO18B	OMIM:616549
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8777	MPDZ	OMIM:615219
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1788	DNMT3A	OMIM:618724
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8086	AAAS	OMIM:231550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8086	AAAS	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26123	TCTN3	ORPHA:2753
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26123	TCTN3	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2182	ACSL4	OMIM:300387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51075	TMX2	OMIM:618730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57647	DHX37	OMIM:618731
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65057	ACD	OMIM:616553
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65057	ACD	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7545	ZIC1	OMIM:618736
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7545	ZIC1	OMIM:616602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51763	INPP5K	OMIM:617404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51763	INPP5K	ORPHA:559
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4281	MID1	ORPHA:2745
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4281	MID1	OMIM:300000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	246329	STAC3	OMIM:255995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8367	H4C5	OMIM:619950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	OMIM:615596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	OMIM:619714
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	ORPHA:370921
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6873	TAF2	OMIM:615599
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1947	EFNB1	ORPHA:1520
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1355	COX15	OMIM:615119
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81857	MED25	OMIM:616449
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81857	MED25	ORPHA:464738
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5361	PLXNA1	OMIM:619955
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4047	LSS	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4047	LSS	OMIM:618840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197	AHSG	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3694	ITGB6	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3190	HNRNPK	ORPHA:453504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3190	HNRNPK	ORPHA:352665
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6536	SLC6A9	OMIM:617301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2782	GNB1	ORPHA:488613
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65082	VPS33A	OMIM:617303
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10730	YME1L1	OMIM:617302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28960	DCPS	OMIM:616459
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51684	SUFU	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10559	SLC35A1	OMIM:603585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80153	EDC3	OMIM:616460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55870	ASH1L	OMIM:617796
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25885	POLR1A	OMIM:616462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91869	RFT1	ORPHA:244310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91869	RFT1	OMIM:612015
HP:0007364	Aplasia/Hypoplasia of the cerebrum	816	CAMK2B	OMIM:617799
HP:0007364	Aplasia/Hypoplasia of the cerebrum	815	CAMK2A	OMIM:617798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	547	KIF1A	ORPHA:2836
HP:0007364	Aplasia/Hypoplasia of the cerebrum	547	KIF1A	OMIM:614255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5155	PDGFB	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9213	XPR1	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5159	PDGFRB	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57462	MYORG	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6575	SLC20A2	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58494	JAM2	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23184	MESD	OMIM:618644
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55109	AGGF1	ORPHA:90308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2626	GATA4	ORPHA:251071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	652	BMP4	OMIM:607932
HP:0007364	Aplasia/Hypoplasia of the cerebrum	652	BMP4	ORPHA:139471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54872	PIGG	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7469	NELFA	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1656	DDX6	OMIM:618653
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1501	CTNND2	ORPHA:281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9037	SEMA5A	ORPHA:281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26057	ANKRD17	OMIM:619504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3737	KCNA2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1759	DNM1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8120	AP3B2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8120	AP3B2	OMIM:617276
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10991	SLC38A3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10991	SLC38A3	OMIM:619881
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51343	FZR1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22906	TRAK1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22906	TRAK1	OMIM:618201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2566	GABRG2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1917	EEF1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1917	EEF1A2	OMIM:616393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2561	GABRB2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7532	YWHAG	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79876	UBA5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	OMIM:617935
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	OMIM:617938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2558	GABRA5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2906	GRIN2D	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2906	GRIN2D	OMIM:617162
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10659	CELF2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	774	CACNA1B	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1213	CLTC	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23334	SZT2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	OMIM:618468
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	OMIM:618470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348980	HCN1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348980	HCN1	OMIM:618482
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6506	SLC1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6506	SLC1A2	OMIM:617105
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8867	SYNJ1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2258	FGF13	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3745	KCNB1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284111	SLC13A5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284111	SLC13A5	OMIM:615905
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25977	NECAP1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	16	AARS1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	16	AARS1	OMIM:616339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22866	CNKSR2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9568	GABBR2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9568	GABBR2	OMIM:617903
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2555	GABRA2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2555	GABRA2	OMIM:618557
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55152	DALRD3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55152	DALRD3	OMIM:618910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	773	CACNA1A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26999	CYFIP2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26999	CYFIP2	OMIM:618008
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4915	NTRK2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25973	PARS2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23097	CDK19	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64801	ARV1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79947	DHDDS	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2257	FGF12	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5530	PPP3CA	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55623	THUMPD1	OMIM:619989
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57167	SALL4	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9935	MAFB	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1123	CHN1	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54888	NSUN2	ORPHA:235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54888	NSUN2	OMIM:611091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	253738	EBF3	OMIM:617330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1182	CLCN3	OMIM:619512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1182	CLCN3	OMIM:619517
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29081	METTL5	OMIM:618665
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29081	METTL5	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7862	BRPF1	OMIM:617333
HP:0007364	Aplasia/Hypoplasia of the cerebrum	286	ANK1	ORPHA:251066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5860	QDPR	ORPHA:226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5860	QDPR	OMIM:261630
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7385	UQCRC2	OMIM:615160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7750	ZMYM2	OMIM:619522
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9922	IQSEC1	OMIM:618687
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85365	ALG2	OMIM:607906
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85365	ALG2	ORPHA:79326
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57479	PRR12	OMIM:619539
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2006	ELN	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2006	ELN	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5	ORPHA:90349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5	OMIM:219100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4052	LTBP1	ORPHA:90349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	30008	EFEMP2	ORPHA:90349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	30008	EFEMP2	OMIM:614437
HP:0007364	Aplasia/Hypoplasia of the cerebrum	404672	GTF2H5	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	833	CARS1	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	833	CARS1	OMIM:618891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	136647	MPLKIP	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	136647	MPLKIP	OMIM:234050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6897	TARS1	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	OMIM:610651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1173	AP2M1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6323	SCN1A	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340533	NEXMIF	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1106	CHD2	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6529	SLC6A1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9896	FIG4	OMIM:216340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9896	FIG4	ORPHA:208441
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29893	PSMC3IP	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171568	POLR3H	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2516	NR5A1	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	125150	ZSWIM7	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9210	BMP15	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23514	SPIDR	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2492	FSHR	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	646	BNC1	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6576	SLC25A1	OMIM:615182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8621	CDK13	OMIM:617360
HP:0007364	Aplasia/Hypoplasia of the cerebrum	133686	NADK2	OMIM:616034
HP:0007364	Aplasia/Hypoplasia of the cerebrum	133686	NADK2	ORPHA:431361
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5587	PRKD1	OMIM:617364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29968	PSAT1	OMIM:616038
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8905	AP1S2	OMIM:304340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8905	AP1S2	ORPHA:85329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3736	KCNA1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9091	PIGQ	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81603	TRIM8	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81603	TRIM8	OMIM:619428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	OMIM:614254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	OMIM:619814
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	ORPHA:208447
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79751	SLC25A22	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150094	SIK1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23312	DMXL2	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2917	GRM7	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2917	GRM7	OMIM:618922
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	OMIM:308350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	OMIM:300004
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:2508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6326	SCN2A	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51227	PIGP	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51227	PIGP	OMIM:617599
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6324	SCN1B	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4761	NEUROD2	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8803	SUCLA2	ORPHA:1933
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	ORPHA:239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	OMIM:223800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	OMIM:607326
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51750	RTEL1	OMIM:615190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51750	RTEL1	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10466	COG5	ORPHA:263487
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10466	COG5	OMIM:613612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	30000	TNPO2	OMIM:619556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	498	ATP5F1A	OMIM:616045
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	ORPHA:251028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	ORPHA:251019
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	OMIM:612313
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4729	NDUFV2	OMIM:618229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4729	NDUFV2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2627	GATA6	OMIM:600001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55869	HDAC8	OMIM:300882
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55869	HDAC8	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	OMIM:300887
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4695	NDUFA2	OMIM:618235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79868	ALG13	OMIM:300884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9179	AP4M1	OMIM:612936
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9179	AP4M1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3192	HNRNPU	OMIM:617391
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3192	HNRNPU	ORPHA:238769
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56915	EXOSC5	OMIM:619576
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	OMIM:300855
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	ORPHA:568
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	OMIM:309800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11274	USP18	OMIM:617397
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340665	CYP26C1	ORPHA:398189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5831	PYCR1	OMIM:612940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92344	GORAB	OMIM:231070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6898	TAT	ORPHA:28378
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2898	GRIK2	OMIM:619580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80324	PUS1	OMIM:600462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80324	PUS1	ORPHA:2598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9496	TBX4	ORPHA:261279
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10524	KAT5	OMIM:619103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9451	EIF2AK3	OMIM:226980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9451	EIF2AK3	ORPHA:1667
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5277	PIGA	OMIM:300868
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5277	PIGA	OMIM:301072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8635	RNASET2	OMIM:612951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5000	ORC4	OMIM:613800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5000	ORC4	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4990	SIX6	OMIM:206900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6657	SOX2	OMIM:206900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81620	CDT1	OMIM:613804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81620	CDT1	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23594	ORC6	OMIM:613803
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23594	ORC6	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	990	CDC6	OMIM:613805
HP:0007364	Aplasia/Hypoplasia of the cerebrum	990	CDC6	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50814	NSDHL	OMIM:300831
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50814	NSDHL	ORPHA:251383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57003	CCDC47	OMIM:618268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10847	SRCAP	OMIM:619595
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55526	DHTKD1	OMIM:204750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1528	CYB5A	ORPHA:621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1727	CYB5R3	ORPHA:621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1727	CYB5R3	OMIM:250800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	526	ATP6V1B2	ORPHA:79500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	ORPHA:79500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	ORPHA:352596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	OMIM:220500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	OMIM:615338
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90522	YIF1B	OMIM:619125
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55755	CDK5RAP2	OMIM:604804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55755	CDK5RAP2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6472	SHMT2	OMIM:619121
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90416	CCDC32	OMIM:619123
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9895	TECPR2	ORPHA:320385
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9895	TECPR2	OMIM:615031
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3739	KCNA4	OMIM:618284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4683	NBN	ORPHA:647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4683	NBN	OMIM:251260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4693	NDP	ORPHA:649
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4693	NDP	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3735	KARS1	OMIM:619147
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8665	EIF3F	OMIM:618295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221692	PHACTR1	OMIM:618298
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8517	IKBKG	OMIM:308300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10134	BCAP31	OMIM:300475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10134	BCAP31	ORPHA:369939
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3763	KCNJ6	ORPHA:435628
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3763	KCNJ6	OMIM:614098
HP:0007364	Aplasia/Hypoplasia of the cerebrum	341640	FREM2	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23426	GRIP1	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10262	SF3B4	OMIM:154400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8506	CNTNAP1	OMIM:618186
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145173	B3GLCT	ORPHA:709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145173	B3GLCT	OMIM:261540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7109	TRAPPC10	OMIM:620027
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7109	TRAPPC10	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55325	UFSP2	OMIM:620028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10274	STAG1	ORPHA:502434
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10274	STAG1	OMIM:617635
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1119	CHKA	OMIM:620023
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8496	PPFIBP1	OMIM:620024
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5111	PCNA	OMIM:615919
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5111	PCNA	ORPHA:438134
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2629	GBA1	OMIM:608013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57176	VARS2	OMIM:615917
HP:0007364	Aplasia/Hypoplasia of the cerebrum	183	AGT	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5972	REN	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	185	AGTR1	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1636	ACE	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54968	TMEM70	ORPHA:1194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5689	PSMB1	OMIM:620038
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23431	AP4E1	OMIM:613744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23431	AP4E1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	OMIM:212720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	OMIM:614225
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	ORPHA:1387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10472	ZBTB18	ORPHA:36367
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10472	ZBTB18	OMIM:612337
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7298	TYMS	OMIM:620040
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1351	COX8A	OMIM:619059
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100131801	PET100	OMIM:619055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5428	POLG	ORPHA:726
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7080	NKX2-1	ORPHA:209905
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4212	MEIS2	OMIM:600987
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4212	MEIS2	ORPHA:261190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26053	AUTS2	ORPHA:352490
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26053	AUTS2	OMIM:615834
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	OMIM:610253
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	ORPHA:261652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	ORPHA:96147
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26005	C2CD3	OMIM:615948
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26005	C2CD3	ORPHA:434179
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10382	TUBB4A	OMIM:612438
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23265	EXOC7	OMIM:619072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1802	DPH2	OMIM:620062
HP:0007364	Aplasia/Hypoplasia of the cerebrum	443	ASPA	OMIM:271900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	149371	EXOC8	OMIM:619076
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285175	UNC80	OMIM:616801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285175	UNC80	ORPHA:371364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83475	DOHH	OMIM:620066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92667	MGME1	ORPHA:352447
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92667	MGME1	OMIM:615084
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55027	HEATR3	OMIM:620072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5700	PSMC1	OMIM:620071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58508	KMT2C	ORPHA:261652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58508	KMT2C	OMIM:617768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4089	SMAD4	OMIM:139210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5591	PRKDC	OMIM:615966
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25828	TXN2	OMIM:616811
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3187	HNRNPH1	OMIM:620083
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63895	PIEZO2	OMIM:248700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63895	PIEZO2	ORPHA:2461
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22880	MORC2	OMIM:619090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22880	MORC2	ORPHA:466768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4677	NARS1	OMIM:619091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4677	NARS1	OMIM:619092
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7355	SLC35A2	OMIM:300896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7355	SLC35A2	ORPHA:356961
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80184	CEP290	OMIM:611134
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80184	CEP290	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5073	PARN	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5073	PARN	OMIM:616353
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7015	TERT	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7015	TERT	OMIM:613989
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26277	TINF2	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26277	TINF2	OMIM:613990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1736	DKC1	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1736	DKC1	OMIM:305000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92154	MTSS2	OMIM:620086
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197322	ACSF3	ORPHA:289504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63925	ZNF335	ORPHA:329228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2702	GJA5	OMIM:612474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2703	GJA8	OMIM:612474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55690	PACS1	ORPHA:329224
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51053	GMNN	OMIM:616835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51053	GMNN	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10664	CTCF	OMIM:615502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10664	CTCF	ORPHA:363611
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6307	MSMO1	OMIM:616834
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2200	FBN1	ORPHA:2462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	ORPHA:2462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	OMIM:182212
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1828	DSG1	OMIM:615508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3720	JARID2	OMIM:620098
HP:0007364	Aplasia/Hypoplasia of the cerebrum	579	NKX3-2	OMIM:613330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85358	SHANK3	OMIM:606232
HP:0007364	Aplasia/Hypoplasia of the cerebrum	549	AUH	ORPHA:67046
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55784	MCTP2	ORPHA:1596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6301	SARS1	OMIM:617709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55997	CFC1	OMIM:605376
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26224	FBXL3	OMIM:606220
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5925	RB1	ORPHA:1587
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27315	PGAP2	OMIM:614207
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83987	CCDC8	OMIM:614205
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80185	TTI2	OMIM:615541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80185	TTI2	ORPHA:391307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128989	TANGO2	OMIM:616878
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128989	TANGO2	ORPHA:480864
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55644	OSGEP	OMIM:617729
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55644	OSGEP	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57572	DOCK6	OMIM:614219
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22931	RAB18	OMIM:614222
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22931	RAB18	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23443	SLC35A3	OMIM:615553
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6925	TCF4	ORPHA:2896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6925	TCF4	OMIM:610954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	202018	TAPT1	OMIM:616897
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54805	CNNM2	OMIM:616418
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6591	SNAI2	ORPHA:2884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3815	KIT	ORPHA:2884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3756	KCNH1	ORPHA:420561
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1376	CPT2	OMIM:608836
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10717	AP4B1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10717	AP4B1	OMIM:614066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11154	AP4S1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11154	AP4S1	OMIM:614067
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9320	TRIP12	OMIM:617752
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5879	RAC1	OMIM:617751
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5879	RAC1	ORPHA:500159
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1663	DDX11	OMIM:613398
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2186	BPTF	OMIM:617755
HP:0007364	Aplasia/Hypoplasia of the cerebrum	738	VPS51	OMIM:618606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9439	MED23	OMIM:614249
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5430	POLR2A	OMIM:618603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22827	PUF60	OMIM:615583
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22827	PUF60	ORPHA:508498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26235	FBXL4	OMIM:615471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23019	CNOT1	OMIM:618500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55823	VPS11	ORPHA:466934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55823	VPS11	OMIM:616683
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6777	STAT5B	OMIM:618985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4897	NRCAM	OMIM:619833
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23498	HAAO	OMIM:617660
HP:0007364	Aplasia/Hypoplasia of the cerebrum	161582	DNAAF4	OMIM:615482
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9578	CDC42BPB	OMIM:619841
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65993	MRPS34	OMIM:617664
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80816	ASXL3	OMIM:615485
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80816	ASXL3	ORPHA:352577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8942	KYNU	OMIM:617661
HP:0007364	Aplasia/Hypoplasia of the cerebrum	387787	LIPT2	OMIM:617668
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1841	DTYMK	OMIM:619847
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27229	TUBGCP4	OMIM:616335
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27229	TUBGCP4	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3149	HMGB3	OMIM:300915
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2132	EXT2	ORPHA:466926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2132	EXT2	OMIM:616682
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51112	TRAPPC12	OMIM:617669
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55636	CHD7	ORPHA:138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55636	CHD7	OMIM:214800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9723	SEMA3E	ORPHA:138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284403	WDR62	OMIM:604317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284403	WDR62	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	288	ANK3	OMIM:615493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23250	ATP11A	OMIM:619851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1020	CDK5	OMIM:616342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7994	KAT6A	ORPHA:457193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7994	KAT6A	OMIM:616268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1716	DGUOK	OMIM:251880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8550	MAPKAPK5	OMIM:619869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23007	PLCH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23007	PLCH1	OMIM:619895
HP:0007364	Aplasia/Hypoplasia of the cerebrum	788	SLC25A20	ORPHA:159
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5518	PPP2R1A	OMIM:616362
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23126	POGZ	OMIM:616364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23126	POGZ	ORPHA:468678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55773	TBC1D23	OMIM:617695
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8558	CDK10	OMIM:617694
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51692	CPSF3	OMIM:619876
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116115	ZNF526	OMIM:619877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5590	PRKCZ	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2563	GABRD	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23013	SPEN	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23013	SPEN	OMIM:619312
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8510	MMP23B	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7798	LUZP1	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10630	PDPN	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10277	UBE4B	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8514	KCNAB2	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63976	PRDM16	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54897	CASZ1	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	ORPHA:464311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	ORPHA:268261
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	OMIM:614104
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285362	SUMF1	ORPHA:585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83479	DDX59	ORPHA:2919
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83479	DDX59	OMIM:174300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56098	PCDHGC4	OMIM:619880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4285	MIPEP	OMIM:617228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	641	BLM	OMIM:210900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79633	FAT4	ORPHA:314679
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8642	DCHS1	ORPHA:314679
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57192	MCOLN1	ORPHA:578
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57192	MCOLN1	OMIM:252650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5354	PLP1	OMIM:312080
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3798	KIF5A	OMIM:617235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57679	ALS2	OMIM:205100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57679	ALS2	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8565	YARS1	OMIM:619418
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374969	SVBP	OMIM:618569
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84295	PHF6	ORPHA:127
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84295	PHF6	OMIM:301900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6135	RPL11	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6138	RPL15	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6229	RPS24	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6125	RPL5	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6204	RPS10	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6224	RPS20	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6165	RPL35A	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2623	GATA1	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6223	RPS19	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6223	RPS19	OMIM:105650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6232	RPS27	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6231	RPS26	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11224	RPL35	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6160	RPL31	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6218	RPS17	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6201	RPS7	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6155	RPL27	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6154	RPL26	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6210	RPS15A	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90121	TSR2	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6141	RPL18	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6235	RPS29	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6234	RPS28	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51816	ADA2	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9742	IFT140	OMIM:266920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55656	INTS8	OMIM:618572
HP:0007364	Aplasia/Hypoplasia of the cerebrum	165918	RNF168	OMIM:611943
HP:0007364	Aplasia/Hypoplasia of the cerebrum	165918	RNF168	ORPHA:420741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	389827	MYMK	OMIM:254940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	389827	MYMK	ORPHA:1358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51574	LARP7	OMIM:615071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	286053	NSMCE2	OMIM:617253
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84894	LINGO1	OMIM:618103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	160418	TMTC3	OMIM:617255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	123606	NIPA1	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7283	TUBG1	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7283	TUBG1	OMIM:615412
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81614	NIPA2	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8473	OGT	OMIM:300997
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6418	SET	OMIM:618106
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9526	MPDU1	OMIM:609180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1120	CHKB	OMIM:602541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7707	ZNF148	OMIM:617260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6299	SALL1	OMIM:107480
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3778	KCNMA1	OMIM:618596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	112939	NACC1	ORPHA:500545
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	OMIM:261600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	ORPHA:79254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	ORPHA:2209
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114803	MYSM1	OMIM:618116
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4041	LRP5	OMIM:259770
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4041	LRP5	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3039	HBA1	ORPHA:98791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3040	HBA2	ORPHA:98791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51132	RLIM	OMIM:300978
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4998	ORC1	OMIM:224690
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4998	ORC1	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27341	RRP7A	OMIM:619453
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3376	IARS1	ORPHA:541423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1312	COMT	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221037	JMJD1C	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2812	GP1BB	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6239	RREB1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	ORPHA:1727
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	OMIM:188400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7290	HIRA	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9632	SEC24C	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7353	UFD1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	421	ARVCF	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5077	PAX3	OMIM:148820
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5077	PAX3	ORPHA:896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	ORPHA:568
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	OMIM:300166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	OMIM:309800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6821	SUOX	OMIM:272300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	538	ATP7A	ORPHA:565
HP:0007364	Aplasia/Hypoplasia of the cerebrum	538	ATP7A	OMIM:309400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84314	TMEM107	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80776	B9D2	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79600	TCTN1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57096	RPGRIP1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79848	CSPP1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51259	TMEM216	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57545	CC2D2A	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79583	TMEM231	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91147	TMEM67	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79770	TXNDC15	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27077	B9D1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23322	RPGRIP1L	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54903	MKS1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54903	MKS1	OMIM:249000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65062	TMEM237	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23258	DENND5A	OMIM:617281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92949	ADAMTSL1	ORPHA:521445
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84065	TMEM222	OMIM:619470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57187	THOC2	OMIM:300957
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57187	THOC2	ORPHA:457240
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10526	IPO8	OMIM:619472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348180	CTU2	OMIM:618142
HP:0007364	Aplasia/Hypoplasia of the cerebrum	94005	PIGS	OMIM:618143
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55651	NHP2	OMIM:224230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55505	NOP10	OMIM:224230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6711	SPTBN1	OMIM:619475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3643	INSR	ORPHA:508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2131	EXT1	ORPHA:502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7227	TRPS1	ORPHA:502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6872	TAF1	OMIM:300966
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6872	TAF1	ORPHA:480907
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374879	ZNF699	OMIM:619488
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60676	PAPPA2	OMIM:619489
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1654	DDX3X	OMIM:300958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1654	DDX3X	ORPHA:457260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7284	TUFM	OMIM:610678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	407975	MIR17HG	ORPHA:391646
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55599	RNPC3	OMIM:618160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5805	PTS	OMIM:261640
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63899	NSUN3	OMIM:619012
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7157	TP53	OMIM:618165
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2193	FARSA	OMIM:619013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5557	PRIM1	OMIM:620005
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84081	NSRP1	OMIM:620001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54936	ADPRS	OMIM:618170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9562	MINPP1	ORPHA:284339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64432	MRPS25	OMIM:619025
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84842	HPDL	OMIM:619026
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51002	TPRKB	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	112858	TP53RK	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8270	LAGE3	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55294	FBXW7	OMIM:620012
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1183	CLCN4	OMIM:300114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1183	CLCN4	ORPHA:485350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	123263	MTFMT	OMIM:614947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10667	FARS2	OMIM:614946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9839	ZEB2	OMIM:235730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80232	WDR26	ORPHA:513456
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4010	LMX1B	ORPHA:495818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6812	STXBP1	ORPHA:495818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4552	MTRR	ORPHA:2169
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80055	PGAP1	OMIM:615802
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57582	KCNT1	OMIM:614959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10225	CD96	OMIM:211750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10225	CD96	ORPHA:1308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1763	DNA2	OMIM:615807
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6197	RPS6KA3	OMIM:303600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6197	RPS6KA3	ORPHA:192
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8913	CACNA1G	OMIM:618087
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80204	FBXO11	OMIM:618089
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1509	CTSD	OMIM:610127
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23325	WASHC4	OMIM:615817
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57531	HACE1	ORPHA:464282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57531	HACE1	OMIM:616756
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7156	TOP3A	OMIM:618097
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1009	CDH11	ORPHA:1299
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54496	PRMT7	ORPHA:464288
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54496	PRMT7	OMIM:617157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5063	PAK3	OMIM:300558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10056	FARSB	OMIM:613658
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54499	TMCO1	OMIM:213980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440138	ALG11	OMIM:613661
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440138	ALG11	ORPHA:280071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8481	OFD1	OMIM:311200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5422	POLA1	ORPHA:163976
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5422	POLA1	OMIM:301030
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51067	YARS2	ORPHA:2598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28962	OSTM1	OMIM:259720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79228	THOC6	OMIM:613680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2033	EP300	OMIM:613684
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2033	EP300	OMIM:180849
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5830	PEX5	OMIM:616716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5830	PEX5	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219285	SAMD9L	ORPHA:2585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27238	GPKOW	ORPHA:2570
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5648	MASP1	OMIM:257920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26115	TANC2	OMIM:618906
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55593	OTUD5	OMIM:301056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5160	PDHA1	OMIM:312170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5160	PDHA1	ORPHA:79243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54101	RIPK4	ORPHA:1234
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10982	MAPRE2	OMIM:616734
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10982	MAPRE2	ORPHA:2505
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3176	HNMT	OMIM:616739
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4131	MAP1B	OMIM:618918
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1778	DYNC1H1	OMIM:614563
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3796	KIF2A	OMIM:615411
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1911	PHC1	OMIM:615414
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1911	PHC1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259232	NALCN	OMIM:615419
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259232	NALCN	ORPHA:371364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3759	KCNJ2	OMIM:170390
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100506658	OCLN	ORPHA:1229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100506658	OCLN	OMIM:251290
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3052	HCCS	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3052	HCCS	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57511	COG6	OMIM:614576
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57511	COG6	OMIM:615328
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83696	TRAPPC9	ORPHA:352530
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29980	DONSON	OMIM:617604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29980	DONSON	OMIM:251230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84172	POLR1B	OMIM:618939
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60	ACTB	OMIM:243310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60	ACTB	ORPHA:2995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23476	BRD4	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9126	SMC3	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157680	VPS13B	ORPHA:193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157680	VPS13B	OMIM:216550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81689	ISCA1	OMIM:617613
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1861	TOR1A	OMIM:618947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64857	PLEKHG2	OMIM:616763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51520	LARS1	OMIM:615438
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4329	ALDH6A1	OMIM:614105
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25914	RTTN	ORPHA:468631
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25914	RTTN	OMIM:614833
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80781	COL18A1	OMIM:267750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7343	UBTF	ORPHA:500180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55617	TASP1	OMIM:618950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60528	ELAC2	OMIM:615440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28957	MRPS28	OMIM:618958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3832	KIF11	ORPHA:2526
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3832	KIF11	OMIM:152950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259266	ASPM	OMIM:608716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259266	ASPM	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7991	TUSC3	OMIM:611093
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4763	NF1	ORPHA:139474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1804	DPP6	ORPHA:2514
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1804	DPP6	OMIM:616311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8192	CLPP	OMIM:614129
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85378	TUBGCP6	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85378	TUBGCP6	OMIM:251270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	ORPHA:2990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	OMIM:178110
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	OMIM:193700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1146	CHRNG	ORPHA:2990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128637	TBC1D20	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	71	ACTG1	ORPHA:2995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11113	CIT	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	OMIM:616258
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	OMIM:617914
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55262	TRAPPC14	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	163786	SASS6	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4176	MCM7	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80254	CEP63	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23310	NCAPD3	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23310	NCAPD3	OMIM:617984
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79648	MCPH1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23141	ANKLE2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9662	CEP135	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57082	KNL1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1021	CDK6	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8884	SLC5A6	OMIM:618973
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55367	PIDD1	OMIM:619827
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10749	KIF1C	ORPHA:397946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25915	NDUFAF3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51103	NDUFAF1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91942	NDUFAF2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51300	TIMMDC1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4716	NDUFB10	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4723	NDUFV1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55572	FOXRED1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284184	NDUFAF8	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55863	TMEM126B	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4535	MT-ND1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4537	MT-ND3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4694	NDUFA1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4720	NDUFS2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4726	NDUFS6	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4728	NDUFS8	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4722	NDUFS3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79133	NDUFAF5	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	126328	NDUFA11	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4709	NDUFB3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80224	NUBPL	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29078	NDUFAF4	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374291	NDUFS7	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4700	NDUFA6	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4536	MT-ND2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4715	NDUFB9	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	104	ADARB1	OMIM:618862
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	OMIM:615356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	ORPHA:369840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3020	H3-3A	OMIM:619720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3021	H3-3B	OMIM:619721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10300	KATNB1	OMIM:616212
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4056	LTC4S	OMIM:614037
HP:0007364	Aplasia/Hypoplasia of the cerebrum	72	ACTG2	ORPHA:2604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	472	ATM	OMIM:208900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5610	EIF2AK2	OMIM:618877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3781	KCNN2	OMIM:619725
HP:0007364	Aplasia/Hypoplasia of the cerebrum	137492	VPS37A	ORPHA:319199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2590	GALNT2	OMIM:618885
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51319	RSRC1	OMIM:618402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23761	PISD	OMIM:618889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7020	TFAP2A	OMIM:113620
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55703	POLR3B	OMIM:619742
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5442	POLRMT	OMIM:619743
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4297	KMT2A	ORPHA:319182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4297	KMT2A	OMIM:605130
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25930	PTPN23	OMIM:618890
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79731	NARS2	OMIM:616239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	339983	NAT8L	OMIM:614063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8879	SGPL1	OMIM:617575
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8021	NUP214	OMIM:618426
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8364	H4C3	OMIM:619758
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145258	GSC	OMIM:602471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53335	BCL11A	OMIM:617101
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9993	DGCR2	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8220	ESS2	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8214	DGCR6	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54487	DGCR8	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2271	FH	OMIM:606812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57724	EPG5	OMIM:242840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23162	MAPK8IP3	OMIM:618443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10463	SLC30A9	OMIM:617595
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80173	IFT74	OMIM:617119
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10195	ALG3	ORPHA:79321
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10195	ALG3	OMIM:601110
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8295	TRRAP	OMIM:618454
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81570	CLPB	OMIM:616271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6878	TAF6	OMIM:617126
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51013	EXOSC1	OMIM:619304
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84706	GPT2	OMIM:616281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84706	GPT2	ORPHA:477673
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54892	NCAPG2	OMIM:618460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51728	POLR3K	OMIM:619310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85476	GFM1	OMIM:609060
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6650	CAPN15	OMIM:619318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	256297	PTF1A	OMIM:609069
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221496	LEMD2	OMIM:619322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29998	BICRA	OMIM:619325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8882	ZPR1	OMIM:619321
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4081	MAB21L1	OMIM:618479
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84892	POMGNT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	148789	B3GALNT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1282	COL4A1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10329	RXYLT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1605	DAG1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11041	B4GAT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8869	ST3GAL5	OMIM:609056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23221	RHOBTB2	OMIM:618004
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2530	FUT8	OMIM:618005
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79641	ROGDI	OMIM:226750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7965	AIMP2	OMIM:618006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1781	DYNC1I2	OMIM:618492
HP:0007364	Aplasia/Hypoplasia of the cerebrum	191	AHCY	ORPHA:88618
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8091	HMGA2	ORPHA:94063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23592	LEMD3	ORPHA:94063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26276	VPS33B	OMIM:208085
HP:0007364	Aplasia/Hypoplasia of the cerebrum	372	ARCN1	OMIM:617164
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54681	P4HTM	OMIM:618493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60386	SLC25A19	ORPHA:99742
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9791	PTDSS1	OMIM:151050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	37	ACADVL	OMIM:201475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5281	PIGF	OMIM:619356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1387	CREBBP	OMIM:180849
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57514	ARHGAP31	OMIM:100300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29926	GMPPA	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10681	GNB5	OMIM:617182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79143	MBOAT7	OMIM:617188
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5080	PAX6	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	627	BDNF	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7490	WT1	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6904	TBCD	OMIM:617193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23554	TSPAN12	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79797	ZNF408	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8322	FZD4	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2733	GLE1	OMIM:611890
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2261	FGFR3	ORPHA:85165
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2261	FGFR3	OMIM:610474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11011	TLK2	OMIM:618050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4702	NDUFA8	OMIM:619272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27183	VPS4A	OMIM:619273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10128	LRPPRC	OMIM:220111
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81555	YIPF5	OMIM:619278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55532	SLC30A10	ORPHA:309854
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8443	GNPAT	OMIM:222765
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9442	MED27	OMIM:619286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64324	NSD1	ORPHA:228415
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3899	AFF3	OMIM:619297
HP:0007364	Aplasia/Hypoplasia of the cerebrum	36	ACADSB	OMIM:610006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8546	AP3B1	OMIM:608233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51199	NIN	OMIM:614851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51199	NIN	ORPHA:319675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4338	MOCS2	OMIM:252160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197257	LDHD	OMIM:245450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9255	AIMP1	OMIM:260600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6804	STX1A	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7461	CLIP2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84277	DNAJC30	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8468	FKBP6	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5982	RFC2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2969	GTF2I	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3984	LIMK1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9569	GTF2IRD1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	155382	VPS37D	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	155368	METTL27	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114049	BUD23	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7458	EIF4H	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84163	GTF2IRD2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9275	BCL7B	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26608	TBL2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	653361	NCF1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	135886	TMEM270	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51085	MLXIPL	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9031	BAZ1B	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5297	PI4KA	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27286	SRPX2	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	375748	ERCC6L2	OMIM:615715
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93210	PGAP3	OMIM:615716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2521	FUS	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80208	SPG11	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10280	SIGMAR1	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10558	SPTLC1	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6628	SNRPB	ORPHA:1393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6628	SNRPB	OMIM:117650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	162417	NAGS	ORPHA:927
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50628	GEMIN4	OMIM:617913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5824	PEX19	OMIM:614886
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5824	PEX19	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	867	CBL	OMIM:613563
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55670	PEX26	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5828	PEX2	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8504	PEX3	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8799	PEX11B	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9409	PEX16	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5190	PEX6	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5189	PEX1	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5193	PEX12	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5194	PEX13	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5195	PEX14	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5192	PEX10	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7507	XPA	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7507	XPA	OMIM:278700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7508	XPC	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1643	DDB2	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4173	MCM4	OMIM:609981
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55187	VPS13D	OMIM:607317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10157	AASS	ORPHA:2203
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79631	EFL1	OMIM:617941
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5429	POLH	OMIM:278750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	101929726	MYMX	ORPHA:1358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2058	EPRS1	OMIM:617951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1063	CENPF	OMIM:243605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9361	LONP1	ORPHA:79243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	20	ABCA2	OMIM:618808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91647	ATPAF2	OMIM:604273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1729	DIAPH1	OMIM:616632
HP:0007364	Aplasia/Hypoplasia of the cerebrum	175	AGA	OMIM:208400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6785	ELOVL4	OMIM:614457
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9419	CRIPT	OMIM:615789
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27010	TPK1	OMIM:614458
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2584	GALK1	ORPHA:79237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7874	USP7	ORPHA:500055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11019	LIAS	OMIM:614462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4337	MOCS1	OMIM:252150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29957	SLC25A24	OMIM:612289
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3704	ITPA	OMIM:616647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56270	WDR45B	OMIM:617977
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54870	QRICH1	OMIM:617982
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6911	TBX6	ORPHA:1797
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23397	NCAPH	OMIM:617985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54676	GTPBP2	OMIM:617988
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158326	FREM1	OMIM:614485
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200205	IBA57	OMIM:615330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25974	MMACHC	ORPHA:79282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25974	MMACHC	OMIM:277400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23133	PHF8	OMIM:300263
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51733	UPB1	OMIM:613161
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23001	WDFY3	OMIM:617520
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79587	CARS2	OMIM:616672
HP:0007364	Aplasia/Hypoplasia of the cerebrum	35	ACADS	ORPHA:26792
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55753	OGDHL	OMIM:619701
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5052	PRDX1	OMIM:277400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91949	COG7	OMIM:608779
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91949	COG7	ORPHA:79333
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4204	MECP2	OMIM:300673
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4204	MECP2	ORPHA:778
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6792	CDKL5	OMIM:300672
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1267	CNP	OMIM:619071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10617	STAMBP	OMIM:614261
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91452	ACBD5	OMIM:618863
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84879	MFSD2A	OMIM:616486
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7737	RNF113A	OMIM:300953
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51660	MPC1	OMIM:614741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1161	ERCC8	ORPHA:90324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2074	ERCC6	ORPHA:90324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10564	ARFGEF2	OMIM:608097
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2290	FOXG1	OMIM:613454
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8573	CASK	OMIM:300749
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4719	NDUFS1	OMIM:618226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55627	SMPD4	OMIM:618622
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8818	DPM2	ORPHA:329178
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11340	EXOSC8	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5393	EXOSC9	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23287	AGTPBP1	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51010	EXOSC3	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51010	EXOSC3	OMIM:614678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7443	VRK1	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91137	SLC25A46	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51091	SEPSECS	OMIM:613811
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51091	SEPSECS	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22845	DOLK	ORPHA:91131
HP:0007364	Aplasia/Hypoplasia of the cerebrum	132158	GLYCTK	ORPHA:941
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56052	ALG1	ORPHA:79327
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79796	ALG9	ORPHA:79328
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4247	MGAT2	ORPHA:79329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11277	TREX1	OMIM:225750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8318	CDC45	OMIM:617063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	122553	TRAPPC6B	OMIM:617862
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5859	QARS1	OMIM:615760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116461	TSEN15	OMIM:617026
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116461	TSEN15	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9326	ZNHIT3	OMIM:260565
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51741	WWOX	OMIM:616211
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283989	TSEN54	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283989	TSEN54	OMIM:277470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79042	TSEN34	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80746	TSEN2	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80746	TSEN2	OMIM:612389
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57688	ZSWIM6	OMIM:617865
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2137	EXTL3	OMIM:617425
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4190	MDH1	OMIM:618959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55704	CCDC88A	OMIM:617507
HP:0007364	Aplasia/Hypoplasia of the cerebrum	998	CDC42	OMIM:616737
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6334	SCN8A	OMIM:614558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50	ACO2	OMIM:614559
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84197	POMK	OMIM:615249
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57038	RARS2	OMIM:611523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6509	SLC1A4	OMIM:616657
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10978	CLP1	OMIM:615803
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54862	CC2D1A	OMIM:608443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9382	COG1	OMIM:611209
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9382	COG1	ORPHA:263508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2891	GRIA2	OMIM:618917
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23065	EMC1	ORPHA:480898
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63908	NAPB	OMIM:620033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9342	SNAP29	OMIM:609528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51651	PTRH2	OMIM:616263
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23545	ATP6V0A2	ORPHA:357074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23545	ATP6V0A2	ORPHA:2834
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23545	ATP6V0A2	OMIM:278250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	523	ATP6V1A	ORPHA:357074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	529	ATP6V1E1	ORPHA:357074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440	ASNS	OMIM:615574
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5538	PPT1	OMIM:256730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6709	SPTAN1	OMIM:613477
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55275	VPS53	OMIM:615851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203190	LGI3	OMIM:620007
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2806	GOT2	OMIM:618721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51294	PCDH12	OMIM:251280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29920	PYCR2	ORPHA:481152
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114034	TOE1	OMIM:614969
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5048	PAFAH1B1	ORPHA:95232
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3913	LAMB2	OMIM:609049
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84153	RNASEH2C	OMIM:610329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83480	PUS3	ORPHA:488627
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79087	ALG12	ORPHA:79324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79087	ALG12	OMIM:607143
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2801	GOLGA2	OMIM:620240
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23096	IQSEC2	ORPHA:397933
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55163	PNPO	OMIM:610090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84188	FAR1	ORPHA:438178
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10844	TUBGCP2	OMIM:618737
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221927	BRAT1	OMIM:614498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84342	COG8	ORPHA:95428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11284	PNKP	OMIM:613402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10535	RNASEH2A	OMIM:610333
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7407	VARS1	OMIM:617802
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9373	PLAA	OMIM:617527
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27445	PCLO	OMIM:608027
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9343	EFTUD2	OMIM:610536
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23516	SLC39A14	ORPHA:521406
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6513	SLC2A1	ORPHA:71277
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3476	IGBP1	OMIM:300472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3476	IGBP1	ORPHA:52055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1024	CDK8	OMIM:618748
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10992	SF3B2	OMIM:164210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2731	GLDC	OMIM:605899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	275	AMT	OMIM:605899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55112	DYNC2I1	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57560	IFT80	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57539	WDR35	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79659	DYNC2H1	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79659	DYNC2H1	OMIM:613091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89891	DYNC2I2	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2737	GLI3	ORPHA:380
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2737	GLI3	OMIM:175700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1630	DCC	OMIM:617542
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1630	DCC	ORPHA:238722
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1630	DCC	OMIM:157600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4867	NPHP1	ORPHA:220497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22858	CILK1	OMIM:612651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54806	AHI1	ORPHA:220493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	95681	CEP41	ORPHA:220493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	ORPHA:87
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	OMIM:123790
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	OMIM:101200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5173	PDYN	OMIM:610245
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3845	KRAS	ORPHA:2396
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3845	KRAS	ORPHA:3339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2018	EMX2	OMIM:269160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9401	RECQL4	OMIM:218600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55697	VAC14	ORPHA:3472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22872	SEC31A	OMIM:618651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55012	PPP2R3C	OMIM:618419
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51021	MRPS16	OMIM:610498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	129563	DIS3L2	OMIM:267000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23512	SUZ12	OMIM:618786
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5626	PROP1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5626	PROP1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89884	LHX4	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89884	LHX4	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8022	LHX3	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5449	POU1F1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5449	POU1F1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	OMIM:182230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4519	MT-CYB	ORPHA:137675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6558	SLC12A2	OMIM:619083
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4036	LRP2	OMIM:222448
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3170	FOXA2	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2239	GPC4	ORPHA:373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2239	GPC4	OMIM:312870
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2719	GPC3	ORPHA:373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2719	GPC3	OMIM:312870
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197258	FCSK	OMIM:618324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2678	GGT1	OMIM:231950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64919	BCL11B	OMIM:617237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11023	VAX1	OMIM:614402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	257	ALX3	OMIM:136760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51645	PPIL1	OMIM:619301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51362	CDC40	OMIM:619302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55280	CWF19L1	ORPHA:453521
HP:0007364	Aplasia/Hypoplasia of the cerebrum	164	AP1G1	OMIM:619548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1801	DPH1	ORPHA:459061
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10126	DNAL4	ORPHA:238722
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9423	NTN1	ORPHA:238722
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56896	DPYSL5	OMIM:619435
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2879	GPX4	ORPHA:93317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5396	PRRX1	OMIM:202650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5396	PRRX1	ORPHA:990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51807	TUBA8	ORPHA:250972
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7473	WNT3	ORPHA:3301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340419	RSPO2	ORPHA:3301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1436	CSF1R	OMIM:618476
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23030	KDM4B	OMIM:619320
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3313	HSPA9	OMIM:616854
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27185	DISC1	ORPHA:171703
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8320	EOMES	ORPHA:171703
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2657	GDF1	OMIM:208530
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1000	CDH2	OMIM:618929
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1583	CYP11A1	ORPHA:289548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1583	CYP11A1	ORPHA:168558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2009	EML1	OMIM:600348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5395	PMS2	OMIM:619101
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2313	FLI1	ORPHA:2308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65250	CPLANE1	OMIM:277170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8092	ALX1	ORPHA:306542
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4659	PPP1R12A	OMIM:618820
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9968	MED12	OMIM:309520
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80210	ARMC9	OMIM:617622
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113246	C12orf57	OMIM:218340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84823	LMNB2	OMIM:616540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4781	NFIB	OMIM:618286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4292	MLH1	OMIM:276300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	18	ABAT	OMIM:613163
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8449	DHX16	OMIM:618733
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128674	PROKR2	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26275	HIBCH	OMIM:250620
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2615	LRRC32	OMIM:619074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6938	TCF12	OMIM:615314
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11198	SUPT16H	OMIM:619480
HP:0007364	Aplasia/Hypoplasia of the cerebrum	139285	AMER1	OMIM:300373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7143	TNR	OMIM:619653
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4123	MAN2C1	OMIM:619775
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7528	YY1	ORPHA:506358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29899	GPSM2	OMIM:604213
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8036	SHOC2	OMIM:607721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9853	RUSC2	OMIM:617773
HP:0007364	Aplasia/Hypoplasia of the cerebrum	343450	KCNT2	OMIM:617771
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10159	ATP6AP2	ORPHA:93952
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10159	ATP6AP2	OMIM:300423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116931	MED12L	OMIM:618872
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27245	AHDC1	ORPHA:412069
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27245	AHDC1	OMIM:615829
HP:0007364	Aplasia/Hypoplasia of the cerebrum	375387	NRROS	OMIM:618875
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6844	VAMP2	OMIM:618760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11232	POLG2	OMIM:618528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23327	NEDD4L	OMIM:617201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2903	GRIN2A	ORPHA:289266
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2903	GRIN2A	ORPHA:163721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57178	ZMIZ1	OMIM:618659
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26040	SETBP1	OMIM:269150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26040	SETBP1	ORPHA:798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113612	CYP2U1	OMIM:615030
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113612	CYP2U1	ORPHA:320411
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	OMIM:615035
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	ORPHA:320375
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	ORPHA:254930
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84504	NKX6-2	ORPHA:527497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23259	DDHD2	OMIM:615033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23259	DDHD2	ORPHA:320380
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7531	YWHAE	ORPHA:217385
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7531	YWHAE	ORPHA:531
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3098	HK1	OMIM:618547
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26137	ZBTB20	OMIM:259050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9533	POLR1C	OMIM:616494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1615	DARS1	OMIM:615281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	253959	RALGAPA1	OMIM:618797
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51098	IFT52	OMIM:617102
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4849	CNOT3	OMIM:618672
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10297	APC2	OMIM:618677
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7841	MOGS	ORPHA:79330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7841	MOGS	OMIM:606056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4208	MEF2C	ORPHA:228384
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3785	KCNQ2	ORPHA:439218
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3785	KCNQ2	OMIM:613720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51062	ATL1	OMIM:182600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79053	ALG8	ORPHA:79325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7040	TGFB1	OMIM:618213
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5881	RAC3	OMIM:618577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27429	HTRA2	OMIM:617248
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55770	EXOC2	OMIM:619306
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9488	PIGB	OMIM:618580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3912	LAMB1	OMIM:615191
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4558	MT-TF	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4572	MT-TQ	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4512	MT-CO1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4513	MT-CO2	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4514	MT-CO3	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4578	MT-TW	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4540	MT-ND5	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4541	MT-ND6	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4538	MT-ND4	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4567	MT-TL1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4574	MT-TS1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4575	MT-TS2	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4564	MT-TH	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10765	KDM5B	OMIM:618109
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2671	GFER	ORPHA:330054
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11160	ERLIN2	ORPHA:209951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11160	ERLIN2	OMIM:611225
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128869	PIGU	OMIM:618590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5631	PRPS1	ORPHA:423479
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55610	VPS50	OMIM:619685
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6651	SON	OMIM:617140
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6651	SON	ORPHA:500150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5660	PSAP	OMIM:611721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7337	UBE3A	ORPHA:98794
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4948	OCA2	ORPHA:98794
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22796	COG2	OMIM:617395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22796	COG2	ORPHA:435934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2560	GABRB1	OMIM:617153
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51324	SPG21	ORPHA:101001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7161	TP73	OMIM:619466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9758	FRMPD4	OMIM:300983
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1822	ATN1	OMIM:618494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8883	NAE1	OMIM:620210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50801	KCNK4	OMIM:618381
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9851	KIAA0753	OMIM:619479
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2892	GRIA3	ORPHA:364028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2571	GAD1	OMIM:619124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2222	FDFT1	OMIM:618156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285590	SH3PXD2B	OMIM:249420
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374354	NHLRC2	OMIM:618278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8239	USP9X	OMIM:300968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8239	USP9X	ORPHA:480880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	ORPHA:171629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	ORPHA:329308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	OMIM:612319
HP:0007364	Aplasia/Hypoplasia of the cerebrum	118924	FRA10AC1	OMIM:620113
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8911	CACNA1I	OMIM:620114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3090	HIC1	ORPHA:531
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55005	RMND1	OMIM:614922
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3295	HSD17B4	OMIM:261515
HP:0007364	Aplasia/Hypoplasia of the cerebrum	124454	EARS2	OMIM:614924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10079	ATP9A	OMIM:620242
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23299	BICD2	OMIM:618291
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64802	NMNAT1	OMIM:619260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	129285	PPP1R21	OMIM:619383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2316	FLNA	ORPHA:555877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2316	FLNA	OMIM:300049
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1496	CTNNA2	OMIM:618174
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10682	EBP	ORPHA:401973
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6095	RORA	OMIM:618060
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9131	AIFM1	OMIM:300232
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9131	AIFM1	ORPHA:83629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347734	SLC35B2	OMIM:620269
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4774	NFIA	OMIM:613735
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80222	TARS2	OMIM:615918
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54209	TREM2	OMIM:618193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9915	ARNT2	OMIM:615926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55780	ERMARD	ORPHA:75857
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26153	KIF26A	OMIM:620156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	271	AMPD2	OMIM:615809
HP:0007364	Aplasia/Hypoplasia of the cerebrum	271	AMPD2	OMIM:615686
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5119	CHMP1A	OMIM:614961
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55157	DARS2	ORPHA:137898
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10000	AKT3	OMIM:615937
HP:0007364	Aplasia/Hypoplasia of the cerebrum	501	ALDH7A1	ORPHA:3006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11212	PLPBP	ORPHA:3006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23116	TOGARAM1	OMIM:619185
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23400	ATP13A2	ORPHA:513436
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80856	LNPK	OMIM:618090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26278	SACS	ORPHA:98
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1641	DCX	ORPHA:2148
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2752	GLUL	OMIM:610015
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9907	AP5Z1	OMIM:613647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9907	AP5Z1	ORPHA:306511
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9653	HS2ST1	OMIM:619194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7025	NR2F1	ORPHA:401777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57498	KIDINS220	ORPHA:521390
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79753	SNIP1	OMIM:614501
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11128	POLR3A	ORPHA:447896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11128	POLR3A	OMIM:607694
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10236	HNRNPR	OMIM:620073
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23503	ZFYVE26	OMIM:270700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23503	ZFYVE26	ORPHA:100996
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4094	MAF	ORPHA:1272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51244	CCDC174	OMIM:616816
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51322	WAC	ORPHA:284169
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51322	WAC	OMIM:616708
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57704	GBA2	OMIM:614409
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200403	VWA3B	OMIM:616948
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85021	REPS1	OMIM:617916
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85440	DOCK7	OMIM:615859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85440	DOCK7	ORPHA:411986
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57165	GJC2	OMIM:613206
HP:0007364	Aplasia/Hypoplasia of the cerebrum	124997	WDR81	OMIM:610185
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23028	KDM1A	OMIM:616728
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23028	KDM1A	ORPHA:477993
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6658	SOX3	ORPHA:67045
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80347	COASY	OMIM:615643
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23291	FBXW11	OMIM:618914
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7280	TUBB2A	OMIM:615763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51218	GLRX5	OMIM:616859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23511	NUP188	OMIM:618804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5147	PDE6D	OMIM:615665
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54664	TMEM106B	OMIM:617964
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2475	MTOR	OMIM:616638
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340075	ARSI	ORPHA:401815
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23556	PIGN	ORPHA:280633
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5162	PDHB	ORPHA:255138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51124	IER3IP1	OMIM:614231
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5296	PIK3R2	OMIM:603387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4841	NONO	ORPHA:466791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5455	POU3F3	OMIM:618604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51663	ZFR	ORPHA:401840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1468	SLC25A10	OMIM:618972
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5307	PITX1	OMIM:119800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7305	TYROBP	OMIM:221770
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55331	ACER3	OMIM:617762
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22978	NT5C2	OMIM:613162
HP:0007364	Aplasia/Hypoplasia of the cerebrum	153241	CEP120	OMIM:617761
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4858	NOVA2	OMIM:618859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84148	KAT8	OMIM:618974
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58499	ZNF462	OMIM:618619
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64093	SMOC1	ORPHA:1106
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81788	NUAK2	OMIM:619452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374654	KIF7	OMIM:614120
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374654	KIF7	ORPHA:2189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9786	KIAA0586	OMIM:616546
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57216	VANGL2	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6347	CCL2	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81839	VANGL1	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6862	TBXT	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80199	FUZ	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219844	HYLS1	OMIM:236680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219844	HYLS1	ORPHA:2189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3239	HOXD13	ORPHA:887
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55521	TRIM36	OMIM:206500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51339	DACT1	ORPHA:63260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6913	TBX15	OMIM:260660
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55165	CEP55	OMIM:236500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1967	EIF2B1	OMIM:603896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57194	ATP10A	ORPHA:411515
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83700	JAM3	OMIM:613730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53616	ADAM22	OMIM:617933
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6571	SLC18A2	ORPHA:352649
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22854	NTNG1	ORPHA:3095
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51506	UFC1	OMIM:618076
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6392	SDHD	OMIM:619167
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79068	FTO	OMIM:612938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9512	PMPCB	OMIM:617954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9692	PRORP	OMIM:619737
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8560	DEGS1	OMIM:618404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55858	TMEM165	OMIM:614727
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54675	CRLS1	OMIM:620167
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8604	SLC25A12	OMIM:612949
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10087	CERT1	OMIM:616351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22884	WDR37	OMIM:618652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3188	HNRNPH2	OMIM:300986
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51501	HIKESHI	OMIM:616881
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57468	SLC12A5	OMIM:616645
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56947	MFF	ORPHA:485421
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56947	MFF	OMIM:617086
HP:0007364	Aplasia/Hypoplasia of the cerebrum	539	ATP5PO	OMIM:620359
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9440	MED17	OMIM:613668
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8813	DPM1	OMIM:608799
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8813	DPM1	ORPHA:79322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	125988	MICOS13	OMIM:618329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1719	DHFR	OMIM:613839
HP:0007364	Aplasia/Hypoplasia of the cerebrum	205327	C2orf69	OMIM:619423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51693	TRAPPC2L	OMIM:618331
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57017	COQ9	OMIM:614654
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3329	HSPD1	OMIM:612233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2744	GLS	OMIM:618339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	476	ATP1A1	ORPHA:564178
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23229	ARHGEF9	ORPHA:163985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23229	ARHGEF9	OMIM:300607
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200894	ARL13B	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9731	CEP104	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23247	KATNIP	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219854	TMEM218	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10464	PIBF1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25776	CBY1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	403	ARL3	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3265	HRAS	ORPHA:2612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4893	NRAS	ORPHA:2612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64327	LMBR1	ORPHA:2378
HP:0007364	Aplasia/Hypoplasia of the cerebrum	673	BRAF	OMIM:115150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	95	ACY1	ORPHA:137754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51715	RAB23	OMIM:201000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84162	BLTP1	OMIM:617822
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51114	ZDHHC9	ORPHA:776
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65109	UPF3B	ORPHA:776
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51524	TMEM138	ORPHA:2318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23090	ZNF423	ORPHA:2318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10210	TOPORS	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	317662	FAM149B1	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8405	SPOP	OMIM:618828
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9918	NCAPD2	OMIM:617983
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1984	EIF5A	OMIM:619376
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10015	PDCD6IP	OMIM:620047
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6045	RNF2	OMIM:619460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79023	NUP37	OMIM:618179
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4905	NSF	OMIM:619340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5283	PIGH	OMIM:618010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9181	ARHGEF2	OMIM:617523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2639	GCDH	ORPHA:25
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2314	FLII	ORPHA:819
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	23096	IQSEC2	ORPHA:819
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	10743	RAI1	ORPHA:819
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	10522	DEAF1	ORPHA:819
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	5162	PDHB	ORPHA:255138
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	3897	L1CAM	OMIM:307000
HP:0007366	Atrophy/Degeneration affecting the brainstem	10059	DNM1L	ORPHA:98673
HP:0007366	Atrophy/Degeneration affecting the brainstem	4976	OPA1	ORPHA:98673
HP:0007366	Atrophy/Degeneration affecting the brainstem	6904	TBCD	OMIM:617193
HP:0007366	Atrophy/Degeneration affecting the brainstem	535	ATP6V0A1	OMIM:619971
HP:0007366	Atrophy/Degeneration affecting the brainstem	10466	COG5	ORPHA:263487
HP:0007366	Atrophy/Degeneration affecting the brainstem	10466	COG5	OMIM:613612
HP:0007366	Atrophy/Degeneration affecting the brainstem	84340	GFM2	ORPHA:565624
HP:0007366	Atrophy/Degeneration affecting the brainstem	2775	GNAO1	OMIM:617493
HP:0007366	Atrophy/Degeneration affecting the brainstem	8913	CACNA1G	ORPHA:458803
HP:0007366	Atrophy/Degeneration affecting the brainstem	11284	PNKP	OMIM:616267
HP:0007366	Atrophy/Degeneration affecting the brainstem	23345	SYNE1	ORPHA:88644
HP:0007366	Atrophy/Degeneration affecting the brainstem	9512	PMPCB	OMIM:617954
HP:0007366	Atrophy/Degeneration affecting the brainstem	6709	SPTAN1	OMIM:613477
HP:0007366	Atrophy/Degeneration affecting the brainstem	131118	DNAJC19	ORPHA:66634
HP:0007366	Atrophy/Degeneration affecting the brainstem	9326	ZNHIT3	ORPHA:2836
HP:0007366	Atrophy/Degeneration affecting the brainstem	547	KIF1A	ORPHA:2836
HP:0007366	Atrophy/Degeneration affecting the brainstem	7355	SLC35A2	ORPHA:356961
HP:0007366	Atrophy/Degeneration affecting the brainstem	8560	DEGS1	OMIM:618404
HP:0007366	Atrophy/Degeneration affecting the brainstem	1786	DNMT1	ORPHA:314404
HP:0007366	Atrophy/Degeneration affecting the brainstem	90624	LYRM7	OMIM:615838
HP:0007366	Atrophy/Degeneration affecting the brainstem	60481	ELOVL5	OMIM:615957
HP:0007366	Atrophy/Degeneration affecting the brainstem	10667	FARS2	OMIM:614946
HP:0007366	Atrophy/Degeneration affecting the brainstem	51608	GET4	OMIM:620200
HP:0007366	Atrophy/Degeneration affecting the brainstem	5611	DNAJC3	OMIM:616192
HP:0007366	Atrophy/Degeneration affecting the brainstem	5611	DNAJC3	ORPHA:445062
HP:0007366	Atrophy/Degeneration affecting the brainstem	10715	CERS1	OMIM:616230
HP:0007366	Atrophy/Degeneration affecting the brainstem	10935	PRDX3	OMIM:619862
HP:0007366	Atrophy/Degeneration affecting the brainstem	8295	TRRAP	OMIM:618454
HP:0007366	Atrophy/Degeneration affecting the brainstem	122553	TRAPPC6B	OMIM:617862
HP:0007366	Atrophy/Degeneration affecting the brainstem	1892	ECHS1	OMIM:616277
HP:0007366	Atrophy/Degeneration affecting the brainstem	246243	RNASEH1	OMIM:616479
HP:0007366	Atrophy/Degeneration affecting the brainstem	478	ATP1A3	OMIM:619606
HP:0007366	Atrophy/Degeneration affecting the brainstem	79152	FA2H	ORPHA:171629
HP:0007366	Atrophy/Degeneration affecting the brainstem	79152	FA2H	OMIM:612319
HP:0007366	Atrophy/Degeneration affecting the brainstem	84342	COG8	ORPHA:95428
HP:0007366	Atrophy/Degeneration affecting the brainstem	57038	RARS2	OMIM:611523
HP:0007366	Atrophy/Degeneration affecting the brainstem	27445	PCLO	OMIM:608027
HP:0007366	Atrophy/Degeneration affecting the brainstem	6908	TBP	ORPHA:98759
HP:0007366	Atrophy/Degeneration affecting the brainstem	4001	LMNB1	ORPHA:99027
HP:0007366	Atrophy/Degeneration affecting the brainstem	56652	TWNK	OMIM:271245
HP:0007366	Atrophy/Degeneration affecting the brainstem	6310	ATXN1	ORPHA:98755
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5274	SERPINI1	OMIM:604218
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10749	KIF1C	ORPHA:397946
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10749	KIF1C	OMIM:611302
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27183	VPS4A	OMIM:619273
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1497	CTNS	OMIM:219800
HP:0007367	Atrophy/Degeneration affecting the central nervous system	158	ADSL	OMIM:103050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23394	ADNP	ORPHA:404448
HP:0007367	Atrophy/Degeneration affecting the central nervous system	199857	ALG14	OMIM:619036
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10617	STAMBP	OMIM:614261
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26235	FBXL4	OMIM:615471
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51102	MECR	ORPHA:508093
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5723	PSPH	OMIM:614023
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51569	UFM1	OMIM:617899
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6873	TAF2	OMIM:615599
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6873	TAF2	ORPHA:397951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60684	TRAPPC11	OMIM:615356
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60684	TRAPPC11	ORPHA:369847
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81857	MED25	OMIM:616449
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81857	MED25	ORPHA:464738
HP:0007367	Atrophy/Degeneration affecting the central nervous system	347734	SLC35B2	OMIM:620269
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2720	GLB1	OMIM:230600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64324	NSD1	ORPHA:821
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29072	SETD2	ORPHA:821
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10297	APC2	ORPHA:821
HP:0007367	Atrophy/Degeneration affecting the central nervous system	154881	KCTD7	ORPHA:263516
HP:0007367	Atrophy/Degeneration affecting the central nervous system	154881	KCTD7	OMIM:611726
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4784	NFIX	ORPHA:447980
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4784	NFIX	OMIM:602535
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57165	GJC2	OMIM:608804
HP:0007367	Atrophy/Degeneration affecting the central nervous system	162	AP1B1	OMIM:242150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9442	MED27	OMIM:619286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1841	DTYMK	OMIM:619847
HP:0007367	Atrophy/Degeneration affecting the central nervous system	375387	NRROS	OMIM:618875
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54982	CLN6	OMIM:204300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5610	EIF2AK2	OMIM:618877
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54476	RNF216	OMIM:212840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55768	NGLY1	ORPHA:404454
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26153	KIF26A	OMIM:620156
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79693	YRDC	OMIM:619609
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23250	ATP11A	OMIM:619851
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5105	PCK1	OMIM:261680
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64207	IRF2BPL	OMIM:618088
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55037	PTCD3	OMIM:619057
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7084	TK2	OMIM:609560
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7084	TK2	ORPHA:254886
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55157	DARS2	ORPHA:137898
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2055	CLN8	OMIM:610003
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2055	CLN8	ORPHA:1947
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2055	CLN8	OMIM:600143
HP:0007367	Atrophy/Degeneration affecting the central nervous system	114034	TOE1	OMIM:614969
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1509	CTSD	OMIM:610127
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7841	MOGS	OMIM:606056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8772	FADD	OMIM:613759
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8772	FADD	ORPHA:306550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54675	CRLS1	OMIM:620167
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5095	PCCA	OMIM:606054
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5096	PCCB	OMIM:606054
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8802	SUCLG1	OMIM:245400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8802	SUCLG1	ORPHA:17
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57531	HACE1	ORPHA:464282
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57531	HACE1	OMIM:616756
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1327	COX4I1	OMIM:619060
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5833	PCYT2	OMIM:618770
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57178	ZMIZ1	OMIM:618659
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1201	CLN3	OMIM:204200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4338	MOCS2	OMIM:252160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54872	PIGG	OMIM:616917
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5826	ABCD4	OMIM:614857
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9895	TECPR2	OMIM:615031
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9895	TECPR2	ORPHA:320385
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84504	NKX6-2	ORPHA:527497
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92609	TIMM50	OMIM:617698
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92609	TIMM50	ORPHA:505216
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51692	CPSF3	OMIM:619876
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10056	FARSB	OMIM:613658
HP:0007367	Atrophy/Degeneration affecting the central nervous system	285362	SUMF1	OMIM:272200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56052	ALG1	ORPHA:79327
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56052	ALG1	OMIM:608540
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54828	BCAS3	OMIM:619641
HP:0007367	Atrophy/Degeneration affecting the central nervous system	253959	RALGAPA1	OMIM:618797
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8481	OFD1	OMIM:311200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10531	PITRM1	OMIM:619405
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2271	FH	OMIM:606812
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23162	MAPK8IP3	OMIM:618443
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5917	RARS1	OMIM:616140
HP:0007367	Atrophy/Degeneration affecting the central nervous system	259232	NALCN	OMIM:616266
HP:0007367	Atrophy/Degeneration affecting the central nervous system	339855	KY	ORPHA:496689
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55275	VPS53	OMIM:615851
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3785	KCNQ2	ORPHA:439218
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29960	MRM2	OMIM:618567
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5824	PEX19	OMIM:614886
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23189	KANK1	OMIM:612900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85021	REPS1	OMIM:617916
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8813	DPM1	ORPHA:79322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6314	ATXN7	ORPHA:94147
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26100	WIPI2	OMIM:618453
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10533	ATG7	OMIM:619422
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10159	ATP6AP2	OMIM:300423
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7040	TGFB1	OMIM:618213
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81570	CLPB	OMIM:616271
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81570	CLPB	ORPHA:445038
HP:0007367	Atrophy/Degeneration affecting the central nervous system	133686	NADK2	OMIM:616034
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51693	TRAPPC2L	OMIM:618331
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84188	FAR1	OMIM:616154
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57017	COQ9	OMIM:614654
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27429	HTRA2	OMIM:617248
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22907	DHX30	OMIM:617804
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51013	EXOSC1	OMIM:619304
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8260	NAA10	ORPHA:276432
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8260	NAA10	OMIM:300855
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10075	HUWE1	OMIM:309590
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6309	SC5D	OMIM:607330
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9759	HDAC4	OMIM:619797
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23516	SLC39A14	OMIM:617013
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23516	SLC39A14	ORPHA:521406
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8506	CNTNAP1	OMIM:616286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	132	ADK	OMIM:614300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6513	SLC2A1	OMIM:612126
HP:0007367	Atrophy/Degeneration affecting the central nervous system	53616	ADAM22	OMIM:617933
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9526	MPDU1	OMIM:609180
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4838	NODAL	OMIM:270100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8050	PDHX	ORPHA:255182
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128869	PIGU	OMIM:618590
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9131	AIFM1	ORPHA:83629
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57465	TBC1D24	OMIM:220500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57465	TBC1D24	OMIM:615338
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4695	NDUFA2	OMIM:618235
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5859	QARS1	OMIM:615760
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57520	HECW2	OMIM:617268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5160	PDHA1	OMIM:312170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5160	PDHA1	ORPHA:79243
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1806	DPYD	OMIM:274270
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1806	DPYD	ORPHA:1675
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112939	NACC1	ORPHA:500545
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112939	NACC1	OMIM:617393
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54822	TRPM7	OMIM:105500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1760	DMPK	OMIM:160900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2891	GRIA2	OMIM:618917
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5934	RBL2	OMIM:619690
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79709	COLGALT1	OMIM:618360
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5071	PRKN	OMIM:600116
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4704	NDUFA9	OMIM:618247
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23732	FRRS1L	OMIM:616981
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79641	ROGDI	OMIM:226750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6601	SMARCC2	OMIM:618362
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2058	EPRS1	OMIM:617951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7965	AIMP2	OMIM:618006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80746	TSEN2	OMIM:612389
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29940	DSE	OMIM:615539
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9361	LONP1	ORPHA:79243
HP:0007367	Atrophy/Degeneration affecting the central nervous system	549	AUH	OMIM:250950
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6821	SUOX	OMIM:272300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1781	DYNC1I2	OMIM:618492
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5422	POLA1	OMIM:301030
HP:0007367	Atrophy/Degeneration affecting the central nervous system	127833	SYT2	OMIM:619461
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1822	ATN1	OMIM:618494
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4761	NEUROD2	OMIM:618374
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84896	ATAD1	OMIM:618011
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57511	COG6	OMIM:614576
HP:0007367	Atrophy/Degeneration affecting the central nervous system	175	AGA	OMIM:208400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55644	OSGEP	OMIM:617729
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57572	DOCK6	OMIM:614219
HP:0007367	Atrophy/Degeneration affecting the central nervous system	220296	HEPACAM	OMIM:613925
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4548	MTR	OMIM:250940
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2313	FLI1	ORPHA:2308
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8943	AP3D1	OMIM:617050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57498	KIDINS220	OMIM:617296
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57003	CCDC47	OMIM:618268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51095	TRNT1	OMIM:616084
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112858	TP53RK	OMIM:617730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11019	LIAS	OMIM:614462
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8270	LAGE3	OMIM:301006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6812	STXBP1	OMIM:612164
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57468	SLC12A5	OMIM:616645
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2517	FUCA1	OMIM:230000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4337	MOCS1	OMIM:252150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23040	MYT1L	OMIM:616521
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51091	SEPSECS	OMIM:613811
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25914	RTTN	ORPHA:468631
HP:0007367	Atrophy/Degeneration affecting the central nervous system	203228	C9orf72	OMIM:105550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80781	COL18A1	OMIM:267750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2571	GAD1	OMIM:619124
HP:0007367	Atrophy/Degeneration affecting the central nervous system	90522	YIF1B	OMIM:619125
HP:0007367	Atrophy/Degeneration affecting the central nervous system	440138	ALG11	ORPHA:280071
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51715	RAB23	OMIM:201000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91875	TTC5	OMIM:619244
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1200	TPP1	OMIM:204500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6663	SOX10	OMIM:609136
HP:0007367	Atrophy/Degeneration affecting the central nervous system	617	BCS1L	OMIM:124000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10084	PQBP1	OMIM:309500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54802	TRIT1	OMIM:617873
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84231	TRAF7	OMIM:618164
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26503	SLC17A5	OMIM:269920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	200205	IBA57	OMIM:615330
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5538	PPT1	OMIM:256730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	727676	SNORD118	ORPHA:542310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54187	NANS	OMIM:610442
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2806	GOT2	OMIM:618721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1719	DHFR	OMIM:613839
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3778	KCNMA1	OMIM:618729
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4668	NAGA	OMIM:609242
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54936	ADPRS	OMIM:618170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51075	TMX2	OMIM:618730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8884	SLC5A6	OMIM:618973
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55331	ACER3	OMIM:617762
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55753	OGDHL	OMIM:619701
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22868	FASTKD2	OMIM:618855
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80331	DNAJC5	OMIM:162350
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25792	CIZ1	ORPHA:420492
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4702	NDUFA8	OMIM:619272
HP:0007367	Atrophy/Degeneration affecting the central nervous system	773	CACNA1A	OMIM:183086
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1183	CLCN4	OMIM:300114
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1183	CLCN4	ORPHA:485350
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5393	EXOSC9	OMIM:618065
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5393	EXOSC9	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23556	PIGN	ORPHA:2059
HP:0007367	Atrophy/Degeneration affecting the central nervous system	400916	CHCHD10	OMIM:615911
HP:0007367	Atrophy/Degeneration affecting the central nervous system	673	BRAF	OMIM:115150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	673	BRAF	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54820	NDE1	ORPHA:2177
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7360	UGP2	OMIM:618744
HP:0007367	Atrophy/Degeneration affecting the central nervous system	145173	B3GLCT	ORPHA:709
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5457	POU4F1	ORPHA:314647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23261	CAMTA1	ORPHA:314647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23261	CAMTA1	OMIM:614756
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10667	FARS2	OMIM:614946
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8496	PPFIBP1	OMIM:620024
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23126	POGZ	ORPHA:468678
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5521	PPP2R2B	OMIM:604326
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4552	MTRR	OMIM:236270
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54209	TREM2	OMIM:618193
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54209	TREM2	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54209	TREM2	ORPHA:2770
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4125	MAN2B1	ORPHA:309282
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4125	MAN2B1	ORPHA:309288
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4125	MAN2B1	OMIM:248500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51112	TRAPPC12	ORPHA:500144
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51112	TRAPPC12	OMIM:617669
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54968	TMEM70	ORPHA:1194
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3020	H3-3A	OMIM:619720
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8722	CTSF	OMIM:615362
HP:0007367	Atrophy/Degeneration affecting the central nervous system	387787	LIPT2	OMIM:617668
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84520	GON7	OMIM:619603
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23431	AP4E1	OMIM:613744
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23431	AP4E1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57582	KCNT1	OMIM:614959
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10978	CLP1	OMIM:615803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79158	GNPTAB	OMIM:252500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	271	AMPD2	OMIM:615809
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5189	PEX1	OMIM:214100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55650	PIGV	OMIM:239300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2192	FBLN1	ORPHA:404451
HP:0007367	Atrophy/Degeneration affecting the central nervous system	348	APOE	OMIM:607822
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5663	PSEN1	OMIM:607822
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5663	PSEN1	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51360	MBTPS2	ORPHA:2273
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3074	HEXB	ORPHA:309155
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10134	BCAP31	ORPHA:369939
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7343	UBTF	OMIM:617672
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91869	RFT1	ORPHA:244310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9326	ZNHIT3	ORPHA:2836
HP:0007367	Atrophy/Degeneration affecting the central nervous system	547	KIF1A	ORPHA:2836
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2260	FGFR1	ORPHA:2396
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3845	KRAS	ORPHA:2396
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3845	KRAS	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2018	EMX2	OMIM:269160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6496	SIX3	OMIM:269160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6469	SHH	OMIM:269160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	546	ATRX	ORPHA:847
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5191	PEX7	OMIM:215100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83480	PUS3	ORPHA:488627
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2332	FMR1	ORPHA:93256
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2332	FMR1	ORPHA:908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	ORPHA:513436
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	ORPHA:306674
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	OMIM:617225
HP:0007367	Atrophy/Degeneration affecting the central nervous system	652	BMP4	OMIM:607932
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57231	SNX14	OMIM:616354
HP:0007367	Atrophy/Degeneration affecting the central nervous system	132158	GLYCTK	OMIM:220120
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10347	ABCA7	OMIM:608907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10347	ABCA7	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	246243	RNASEH1	OMIM:616479
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51761	ATP8A2	OMIM:615268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23230	VPS13A	ORPHA:2388
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4582	MUC1	OMIM:174000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9487	PIGL	ORPHA:3474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57338	JPH3	ORPHA:98934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57338	JPH3	OMIM:606438
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23265	EXOC7	OMIM:619072
HP:0007367	Atrophy/Degeneration affecting the central nervous system	699	BUB1	OMIM:620183
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1798	DPAGT1	ORPHA:86309
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3028	HSD17B10	OMIM:300438
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55699	IARS2	OMIM:616007
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54902	TTC19	OMIM:615157
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6804	STX1A	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7461	CLIP2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84277	DNAJC30	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8468	FKBP6	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5982	RFC2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2969	GTF2I	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3984	LIMK1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9569	GTF2IRD1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	155382	VPS37D	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	155368	METTL27	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	114049	BUD23	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7458	EIF4H	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84163	GTF2IRD2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9275	BCL7B	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26608	TBL2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	653361	NCF1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	135886	TMEM270	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51085	MLXIPL	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9031	BAZ1B	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2006	ELN	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11340	EXOSC8	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11340	EXOSC8	OMIM:616081
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23287	AGTPBP1	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51010	EXOSC3	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7443	VRK1	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7443	VRK1	OMIM:607596
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91137	SLC25A46	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4191	MDH2	OMIM:617339
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2563	GABRD	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23013	SPEN	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8510	MMP23B	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7798	LUZP1	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6497	SKI	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10630	PDPN	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3339	HSPG2	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10277	UBE4B	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	473	RERE	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	63976	PRDM16	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54897	CASZ1	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	493856	CISD2	ORPHA:3463
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7466	WFS1	ORPHA:3463
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6638	SNRPN	OMIM:105830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6638	SNRPN	ORPHA:177907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7337	UBE3A	OMIM:105830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	ORPHA:464311
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	ORPHA:268261
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	OMIM:614104
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2896	GRN	OMIM:607485
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11128	POLR3A	ORPHA:447896
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11128	POLR3A	OMIM:607694
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55343	SLC35C1	OMIM:266265
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8517	IKBKG	ORPHA:464
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4644	MYO5A	ORPHA:33445
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51633	OTUD6B	ORPHA:505237
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4094	MAF	ORPHA:1272
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5621	PRNP	ORPHA:157941
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56098	PCDHGC4	OMIM:619880
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25973	PARS2	OMIM:618437
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54499	TMCO1	ORPHA:1394
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9562	MINPP1	OMIM:619527
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2558	GABRA5	OMIM:618559
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6311	ATXN2	ORPHA:98756
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56652	TWNK	OMIM:271245
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8573	CASK	ORPHA:163937
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22906	TRAK1	OMIM:618201
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54941	RNF125	OMIM:616260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22930	RAB3GAP1	ORPHA:1387
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22930	RAB3GAP1	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25782	RAB3GAP2	ORPHA:1387
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25782	RAB3GAP2	ORPHA:401830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25782	RAB3GAP2	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283989	TSEN54	OMIM:277470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5664	PSEN2	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10452	TOMM40	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	351	APP	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6653	SORL1	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64116	SLC39A8	ORPHA:468699
HP:0007367	Atrophy/Degeneration affecting the central nervous system	404672	GTF2H5	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	833	CARS1	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7737	RNF113A	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	136647	MPLKIP	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	136647	MPLKIP	OMIM:234050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6897	TARS1	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2071	ERCC3	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2071	ERCC3	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2961	GTF2E2	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51750	RTEL1	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65057	ACD	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5073	PARN	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7015	TERT	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26277	TINF2	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1736	DKC1	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79053	ALG8	ORPHA:79325
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2776	GNAQ	ORPHA:3205
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2776	GNAQ	OMIM:185300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8295	TRRAP	OMIM:618454
HP:0007367	Atrophy/Degeneration affecting the central nervous system	58497	PRUNE1	OMIM:617481
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2583	B4GALNT1	OMIM:609195
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2583	B4GALNT1	ORPHA:101006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11232	POLG2	OMIM:619425
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7407	VARS1	OMIM:617802
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57724	EPG5	ORPHA:1493
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4204	MECP2	OMIM:312750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81603	TRIM8	OMIM:619428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5277	PIGA	OMIM:301072
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5277	PIGA	OMIM:300868
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7507	XPA	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7508	XPC	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1643	DDB2	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2072	ERCC4	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2073	ERCC5	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2073	ERCC5	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55703	POLR3B	OMIM:607694
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1203	CLN5	ORPHA:228360
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1203	CLN5	OMIM:256731
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4558	MT-TF	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4572	MT-TQ	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4512	MT-CO1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4513	MT-CO2	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4514	MT-CO3	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4578	MT-TW	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4540	MT-ND5	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4541	MT-ND6	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4535	MT-ND1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4538	MT-ND4	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4567	MT-TL1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4574	MT-TS1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4575	MT-TS2	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4564	MT-TH	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27238	GPKOW	ORPHA:2570
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8925	HERC1	OMIM:617011
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8925	HERC1	ORPHA:457359
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92935	MARS2	OMIM:611390
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92935	MARS2	ORPHA:314603
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4598	MVK	ORPHA:29
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54832	VPS13C	OMIM:616840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55746	NUP133	OMIM:618349
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79813	EHMT1	ORPHA:96147
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57679	ALS2	OMIM:606353
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27249	MMADHC	OMIM:277410
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55630	SLC39A4	ORPHA:37
HP:0007367	Atrophy/Degeneration affecting the central nervous system	116461	TSEN15	OMIM:617026
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2902	GRIN1	OMIM:617820
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8085	KMT2D	ORPHA:2322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7403	KDM6A	ORPHA:2322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	998	CDC42	OMIM:616737
HP:0007367	Atrophy/Degeneration affecting the central nervous system	50	ACO2	OMIM:614559
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10166	SLC25A15	ORPHA:415
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10166	SLC25A15	OMIM:238970
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6904	TBCD	ORPHA:496641
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29925	GMPPB	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79147	FKRP	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29954	POMT2	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29954	POMT2	OMIM:613156
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9215	LARGE1	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10585	POMT1	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56915	EXOSC5	OMIM:619576
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23221	RHOBTB2	OMIM:618004
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8867	SYNJ1	OMIM:615530
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6928	HNF1B	OMIM:137920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2067	ERCC1	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2074	ERCC6	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6709	SPTAN1	OMIM:613477
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54834	GDAP2	OMIM:618369
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2629	GBA1	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23317	DNAJC13	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1981	EIF4G1	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55737	VPS35	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	120892	LRRK2	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26058	GIGYF2	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6622	SNCA	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5604	MAP2K1	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5605	MAP2K2	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51608	GET4	OMIM:620200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100506658	OCLN	ORPHA:1229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3265	HRAS	ORPHA:3071
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9758	FRMPD4	OMIM:300983
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83696	TRAPPC9	ORPHA:352530
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128637	TBC1D20	OMIM:615663
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128637	TBC1D20	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26040	SETBP1	ORPHA:798
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23476	BRD4	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9126	SMC3	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8243	SMC1A	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25836	NIPBL	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55869	HDAC8	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5885	RAD21	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9791	PTDSS1	OMIM:151050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7399	USH2A	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79955	PDZD7	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4647	MYO7A	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4647	MYO7A	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25861	WHRN	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84059	ADGRV1	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6197	RPS6KA3	ORPHA:192
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9150	CTDP1	ORPHA:48431
HP:0007367	Atrophy/Degeneration affecting the central nervous system	94005	PIGS	OMIM:618143
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22866	CNKSR2	OMIM:301008
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10815	CPLX1	OMIM:617976
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22931	RAB18	OMIM:614222
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22931	RAB18	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7305	TYROBP	ORPHA:2770
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8905	AP1S2	ORPHA:1568
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10283	CWC27	ORPHA:166035
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80055	PGAP1	ORPHA:401820
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60558	GUF1	OMIM:617065
HP:0007367	Atrophy/Degeneration affecting the central nervous system	122553	TRAPPC6B	OMIM:617862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57688	ZSWIM6	OMIM:617865
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2893	GRIA4	OMIM:617864
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57038	RARS2	OMIM:611523
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55164	SHQ1	OMIM:619922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57704	GBA2	ORPHA:320391
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6785	ELOVL4	OMIM:133190
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3090	HIC1	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5048	PAFAH1B1	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7531	YWHAE	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10717	AP4B1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9179	AP4M1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11154	AP4S1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	95	ACY1	OMIM:609924
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25978	CHMP2B	OMIM:600795
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1716	DGUOK	OMIM:617070
HP:0007367	Atrophy/Degeneration affecting the central nervous system	340533	NEXMIF	ORPHA:85277
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29920	PYCR2	OMIM:616420
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10479	SLC9A6	ORPHA:85278
HP:0007367	Atrophy/Degeneration affecting the central nervous system	777	CACNA1E	OMIM:618285
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85378	TUBGCP6	ORPHA:2518
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27229	TUBGCP4	ORPHA:2518
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10733	PLK4	ORPHA:2518
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55005	RMND1	OMIM:614922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4693	NDP	ORPHA:649
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4508	MT-ATP6	ORPHA:644
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26123	TCTN3	ORPHA:2753
HP:0007367	Atrophy/Degeneration affecting the central nervous system	71	ACTG1	ORPHA:2995
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60	ACTB	ORPHA:2995
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2801	GOLGA2	OMIM:620240
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23299	BICD2	OMIM:618291
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64072	CDH23	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10083	USH1C	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	124590	USH1G	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83715	ESPN	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10518	CIB2	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65217	PCDH15	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	116150	NUS1	OMIM:617082
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23404	EXOSC2	OMIM:617763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79587	CARS2	OMIM:616672
HP:0007367	Atrophy/Degeneration affecting the central nervous system	221692	PHACTR1	OMIM:618298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4858	NOVA2	OMIM:618859
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29110	TBK1	OMIM:616439
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9373	PLAA	OMIM:617527
HP:0007367	Atrophy/Degeneration affecting the central nervous system	170302	ARX	ORPHA:2508
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8878	SQSTM1	OMIM:616437
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5052	PRDX1	OMIM:277400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	267010	RNU12	ORPHA:512260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11152	WDR45	OMIM:300894
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55739	NAXD	OMIM:618321
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7345	UCHL1	OMIM:615491
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3423	IDS	OMIM:309900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6711	SPTBN1	OMIM:619475
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4683	NBN	OMIM:251260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2990	GUSB	OMIM:253220
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1737	DLAT	ORPHA:79244
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3178	HNRNPA1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8148	TAF15	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5445	PON2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9217	VAPB	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5630	PRPH	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55830	GLT8D1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	755	CFAP410	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10891	PPARGC1A	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6647	SOD1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10133	OPTN	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1639	DCTN1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9896	FIG4	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5444	PON1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5446	PON3	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4744	NEFH	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5216	PFN1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9782	MATR3	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283	ANG	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29978	UBQLN2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2733	GLE1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2043	EPHA4	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1610	DAO	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2066	ERBB4	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	311	ANXA11	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23025	UNC13A	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	899	CCNF	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27235	COQ2	OMIM:146500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5111	PCNA	OMIM:615919
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5111	PCNA	ORPHA:438134
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26137	ZBTB20	OMIM:259050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2760	GM2A	ORPHA:309246
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2760	GM2A	OMIM:272750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83636	C19orf12	OMIM:614298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2581	GALC	OMIM:245200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2348	FOLR1	OMIM:613068
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80347	COASY	OMIM:615643
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57505	AARS2	OMIM:615889
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79731	NARS2	OMIM:616239
HP:0007367	Atrophy/Degeneration affecting the central nervous system	256471	MFSD8	OMIM:610951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3425	IDUA	OMIM:607014
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8883	NAE1	OMIM:620210
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51604	PIGT	ORPHA:369837
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56006	SMG9	OMIM:616920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	124997	WDR81	OMIM:610185
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1593	CYP27A1	ORPHA:909
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9255	AIMP1	OMIM:260600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85476	GFM1	OMIM:609060
HP:0007367	Atrophy/Degeneration affecting the central nervous system	285175	UNC80	OMIM:616801
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8021	NUP214	OMIM:618426
HP:0007367	Atrophy/Degeneration affecting the central nervous system	90624	LYRM7	OMIM:615838
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55775	TDP1	ORPHA:94124
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79796	ALG9	OMIM:608776
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2521	FUS	ORPHA:275872
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7415	VCP	ORPHA:275872
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23435	TARDBP	ORPHA:275872
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6335	SCN9A	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6326	SCN2A	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6326	SCN2A	OMIM:613721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2554	GABRA1	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6323	SCN1A	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6324	SCN1B	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57526	PCDH19	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2566	GABRG2	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1528	CYB5A	ORPHA:621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1727	CYB5R3	ORPHA:621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83475	DOHH	OMIM:620066
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80025	PANK2	OMIM:234200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25915	NDUFAF3	ORPHA:70474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4714	NDUFB8	ORPHA:70474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4720	NDUFS2	ORPHA:70474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9997	SCO2	ORPHA:70474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6834	SURF1	ORPHA:70474
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55593	OTUD5	OMIM:301056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51412	ACTL6B	OMIM:618470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128240	NAXE	OMIM:617186
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25828	TXN2	ORPHA:478029
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25828	TXN2	OMIM:616811
HP:0007367	Atrophy/Degeneration affecting the central nervous system	790	CAD	OMIM:616457
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2782	GNB1	OMIM:616973
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55163	PNPO	ORPHA:79096
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5660	PSAP	OMIM:611722
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79944	L2HGDH	OMIM:236792
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8869	ST3GAL5	OMIM:609056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1436	CSF1R	OMIM:221820
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79868	ALG13	ORPHA:324422
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5354	PLP1	OMIM:312080
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6651	SON	ORPHA:500150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1540	CYLD	OMIM:619132
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1315	COPB1	OMIM:619255
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10352	WARS2	OMIM:619738
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128989	TANGO2	ORPHA:480864
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22827	PUF60	ORPHA:508488
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1717	DHCR7	OMIM:270400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8803	SUCLA2	OMIM:612073
HP:0007367	Atrophy/Degeneration affecting the central nervous system	93627	TBCK	ORPHA:488632
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8398	PLA2G6	OMIM:612953
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6304	SATB1	OMIM:619229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27010	TPK1	OMIM:614458
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10695	CNPY3	OMIM:617929
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6253	RTN2	ORPHA:100993
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51271	UBAP1	ORPHA:100993
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126129	CPT1C	ORPHA:444099
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9897	WASHC5	OMIM:603563
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9897	WASHC5	ORPHA:100989
HP:0007367	Atrophy/Degeneration affecting the central nervous system	123606	NIPA1	OMIM:600363
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3839	KPNA3	ORPHA:171612
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9197	SLC33A1	ORPHA:171863
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6683	SPAST	OMIM:182601
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51062	ATL1	OMIM:182600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1678	TIMM8A	ORPHA:52368
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3064	HTT	ORPHA:399
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3064	HTT	OMIM:617435
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6515	SLC2A3	ORPHA:399
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26580	BSCL2	ORPHA:363400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2512	FTL	ORPHA:157846
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4750	NEK1	OMIM:617892
HP:0007367	Atrophy/Degeneration affecting the central nervous system	93986	FOXP2	ORPHA:209908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79133	NDUFAF5	OMIM:618238
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4983	OPHN1	ORPHA:137831
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7317	UBA1	OMIM:301830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7317	UBA1	ORPHA:1145
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65250	CPLANE1	ORPHA:65684
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57562	CEP126	ORPHA:65684
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:253550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:271150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:253400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10342	TFG	OMIM:604484
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3508	IGHMBP2	OMIM:604320
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6607	SMN2	OMIM:253400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64601	VPS16	OMIM:619291
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7384	UQCRC1	OMIM:619279
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22796	COG2	OMIM:617395
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22796	COG2	ORPHA:435934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	686	BTD	OMIM:253260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23203	PMPCA	ORPHA:1170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2232	FDXR	ORPHA:543470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2903	GRIN2A	ORPHA:289266
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51473	DCDC2	ORPHA:84081
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91147	TMEM67	ORPHA:84081
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9440	MED17	OMIM:613668
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6792	CDKL5	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3736	KCNA1	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9091	PIGQ	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	150094	SIK1	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23312	DMXL2	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51227	PIGP	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7074	TIAM1	OMIM:619908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5173	PDYN	OMIM:610245
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4864	NPC1	OMIM:257220
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55697	VAC14	ORPHA:3472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	221927	BRAT1	OMIM:614498
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2747	GLUD2	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126	ADH1C	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4929	NR4A2	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4576	MT-TT	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9627	SNCAIP	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6315	ATXN8OS	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1130	LYST	ORPHA:167
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23064	SETX	OMIM:602433
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6687	SPG7	ORPHA:35689
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5611	DNAJC3	ORPHA:445062
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4524	MTHFR	ORPHA:395
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10908	PNPLA6	ORPHA:139480
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10908	PNPLA6	OMIM:612020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79152	FA2H	ORPHA:329308
HP:0007367	Atrophy/Degeneration affecting the central nervous system	215	ABCD1	ORPHA:139399
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9420	CYP7B1	ORPHA:100986
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22948	CCT5	OMIM:256840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80208	SPG11	ORPHA:2822
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22880	MORC2	ORPHA:466768
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25974	MMACHC	ORPHA:79282
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5832	ALDH18A1	ORPHA:447757
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4001	LMNB1	ORPHA:99027
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25839	COG4	ORPHA:263501
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25839	COG4	OMIM:613489
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51324	SPG21	ORPHA:101001
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79989	IFT56	OMIM:619534
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5575	PRKAR1B	ORPHA:412066
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4208	MEF2C	ORPHA:228384
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2892	GRIA3	OMIM:300699
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3097	HIVEP2	OMIM:616977
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51099	ABHD5	ORPHA:98907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7167	TPI1	ORPHA:868
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112755	STX1B	ORPHA:36387
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5147	PDE6D	OMIM:615665
HP:0007367	Atrophy/Degeneration affecting the central nervous system	104	ADARB1	OMIM:618862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2639	GCDH	ORPHA:25
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5428	POLG	OMIM:607459
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5428	POLG	ORPHA:70595
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7072	TIA1	OMIM:619133
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7277	TUBA4A	OMIM:616208
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10280	SIGMAR1	ORPHA:300605
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10280	SIGMAR1	OMIM:614373
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10558	SPTLC1	ORPHA:300605
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3798	KIF5A	OMIM:617921
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10059	DNM1L	ORPHA:98673
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4976	OPA1	ORPHA:98673
HP:0007367	Atrophy/Degeneration affecting the central nervous system	535	ATP6V0A1	OMIM:619971
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84340	GFM2	ORPHA:565624
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2775	GNAO1	OMIM:617493
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8913	CACNA1G	ORPHA:458803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11284	PNKP	OMIM:616267
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23345	SYNE1	ORPHA:88644
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9512	PMPCB	OMIM:617954
HP:0007367	Atrophy/Degeneration affecting the central nervous system	131118	DNAJC19	ORPHA:66634
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7355	SLC35A2	ORPHA:356961
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8560	DEGS1	OMIM:618404
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1786	DNMT1	ORPHA:314404
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60481	ELOVL5	OMIM:615957
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10715	CERS1	OMIM:616230
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10935	PRDX3	OMIM:619862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84342	COG8	ORPHA:95428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27445	PCLO	OMIM:608027
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6908	TBP	ORPHA:98759
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6310	ATXN1	ORPHA:98755
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79718	TBL1XR1	ORPHA:487825
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4099	MAG	OMIM:616680
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51728	POLR3K	OMIM:619310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3295	HSD17B4	OMIM:261515
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27072	VPS41	OMIM:619389
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55131	RBM28	ORPHA:157954
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23636	NUP62	ORPHA:225154
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2670	GFAP	ORPHA:363722
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4747	NEFL	ORPHA:101085
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5297	PI4KA	OMIM:619621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2395	FXN	ORPHA:95
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80222	TARS2	OMIM:615918
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10273	STUB1	ORPHA:412057
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55681	SCYL2	OMIM:618766
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26278	SACS	ORPHA:98
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10430	TMEM147	OMIM:620075
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85440	DOCK7	ORPHA:411986
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3975	LHX1	ORPHA:261265
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23729	SHPK	ORPHA:440713
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54664	TMEM106B	ORPHA:100069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4137	MAPT	ORPHA:100069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55906	ZC4H2	OMIM:301041
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10466	COG5	ORPHA:263487
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51399	TRAPPC4	OMIM:618741
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4723	NDUFV1	OMIM:618225
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9853	RUSC2	OMIM:617773
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54517	PUS7	OMIM:618342
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1161	ERCC8	ORPHA:90324
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4719	NDUFS1	OMIM:618226
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4729	NDUFV2	OMIM:618229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10274	STAG1	ORPHA:502434
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6341	SCO1	OMIM:619048
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126328	NDUFA11	OMIM:618236
HP:0007367	Atrophy/Degeneration affecting the central nervous system	113179	ADAT3	ORPHA:363528
HP:0007367	Atrophy/Degeneration affecting the central nervous system	113179	ADAT3	OMIM:615286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283489	CHAMP1	OMIM:616579
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65082	VPS33A	OMIM:617303
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65082	VPS33A	ORPHA:505248
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10730	YME1L1	OMIM:617302
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9640	ZNF592	ORPHA:83472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84942	WDR73	ORPHA:83472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9382	COG1	OMIM:611209
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79068	FTO	OMIM:612938
HP:0007367	Atrophy/Degeneration affecting the central nervous system	427	ASAH1	ORPHA:333
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2895	GRID2	ORPHA:363432
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1351	COX8A	OMIM:619059
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3899	AFF3	OMIM:619297
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27315	PGAP2	OMIM:614207
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29967	LRP12	OMIM:164310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	501	ALDH7A1	ORPHA:3006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11212	PLPBP	ORPHA:3006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11212	PLPBP	OMIM:617290
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283987	HID1	OMIM:619983
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56479	KCNQ5	OMIM:617601
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23065	EMC1	OMIM:616875
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2752	GLUL	OMIM:610015
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3737	KCNA2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1759	DNM1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1759	DNM1	OMIM:620352
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8120	AP3B2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	523	ATP6V1A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10991	SLC38A3	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51343	FZR1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1917	EEF1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2561	GABRB2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8831	SYNGAP1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8831	SYNGAP1	OMIM:612621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7532	YWHAG	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79876	UBA5	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6328	SCN3A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	781	CACNA2D1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2906	GRIN2D	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10659	CELF2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	774	CACNA1B	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1213	CLTC	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51741	WWOX	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23334	SZT2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	348980	HCN1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6506	SLC1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2258	FGF13	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	477	ATP1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3745	KCNB1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	284111	SLC13A5	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25977	NECAP1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25977	NECAP1	OMIM:615833
HP:0007367	Atrophy/Degeneration affecting the central nervous system	16	AARS1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6334	SCN8A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9568	GABBR2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2555	GABRA2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55152	DALRD3	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26999	CYFIP2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4915	NTRK2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23097	CDK19	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64801	ARV1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79947	DHDDS	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2257	FGF12	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5530	PPP3CA	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	478	ATP1A3	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84947	SERAC1	OMIM:614739
HP:0007367	Atrophy/Degeneration affecting the central nervous system	374654	KIF7	OMIM:607131
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26227	PHGDH	OMIM:256520
HP:0007367	Atrophy/Degeneration affecting the central nervous system	443	ASPA	OMIM:271900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51241	COX16	OMIM:619355
HP:0007367	Atrophy/Degeneration affecting the central nervous system	149371	EXOC8	OMIM:619076
HP:0007367	Atrophy/Degeneration affecting the central nervous system	28962	OSTM1	ORPHA:85179
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10846	PDE10A	ORPHA:494526
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51002	TPRKB	OMIM:617731
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8239	USP9X	ORPHA:480880
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3704	ITPA	OMIM:616647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55823	VPS11	OMIM:619637
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79751	SLC25A22	OMIM:609304
HP:0007367	Atrophy/Degeneration affecting the central nervous system	378884	NHLRC1	ORPHA:501
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7957	EPM2A	ORPHA:501
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79759	ZNF668	OMIM:620194
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9829	DNAJC6	ORPHA:391411
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5420	PODXL	ORPHA:391411
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51611	DPH5	OMIM:620070
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4247	MGAT2	ORPHA:79329
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6305	SBF1	OMIM:615284
HP:0007367	Atrophy/Degeneration affecting the central nervous system	374354	NHLRC2	OMIM:618278
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57570	TRMT5	OMIM:616539
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5591	PRKDC	OMIM:615966
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9409	PEX16	OMIM:614877
HP:0007367	Atrophy/Degeneration affecting the central nervous system	539	ATP5PO	OMIM:620359
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57462	MYORG	OMIM:618317
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8911	CACNA1I	OMIM:620114
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91949	COG7	ORPHA:79333
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84628	NTNG2	OMIM:618718
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3181	HNRNPA2B1	ORPHA:52430
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4854	NOTCH3	ORPHA:136
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4677	NARS1	OMIM:619092
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2261	FGFR3	ORPHA:85165
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23219	FBXO28	OMIM:619777
HP:0007367	Atrophy/Degeneration affecting the central nervous system	50628	GEMIN4	OMIM:617913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10195	ALG3	ORPHA:79321
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6509	SLC1A4	ORPHA:447997
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64802	NMNAT1	OMIM:619260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5654	HTRA1	OMIM:600142
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6567	SLC16A2	ORPHA:59
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55181	SMG8	OMIM:619268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1892	ECHS1	OMIM:616277
HP:0007367	Atrophy/Degeneration affecting the central nervous system	63925	ZNF335	ORPHA:329228
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5813	PURA	ORPHA:314655
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8622	PDE8B	OMIM:609161
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4287	ATXN3	ORPHA:276238
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4287	ATXN3	ORPHA:276244
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4287	ATXN3	ORPHA:276241
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10535	RNASEH2A	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84153	RNASEH2C	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25939	SAMHD1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79621	RNASEH2B	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	103	ADAR	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11277	TREX1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100147744	RNU7-1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	134353	LSM11	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64135	IFIH1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100151683	RNU4ATAC	ORPHA:353298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2917	GRM7	OMIM:618922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57094	CPA6	OMIM:614418
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29998	BICRA	OMIM:619325
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5274	SERPINI1	OMIM:604218
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10749	KIF1C	ORPHA:397946
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10749	KIF1C	OMIM:611302
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4702	NDUFA8	OMIM:619272
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3064	HTT	ORPHA:399
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3064	HTT	OMIM:617435
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6515	SLC2A3	ORPHA:399
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27183	VPS4A	OMIM:619273
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1497	CTNS	OMIM:219800
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10134	BCAP31	OMIM:300475
HP:0007369	Atrophy/Degeneration affecting the cerebrum	158	ADSL	OMIM:103050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23394	ADNP	ORPHA:404448
HP:0007369	Atrophy/Degeneration affecting the cerebrum	199857	ALG14	OMIM:619036
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10617	STAMBP	OMIM:614261
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26235	FBXL4	OMIM:615471
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1183	CLCN4	OMIM:300114
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51102	MECR	ORPHA:508093
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5723	PSPH	OMIM:614023
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5393	EXOSC9	OMIM:618065
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2775	GNAO1	OMIM:615473
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2775	GNAO1	OMIM:617493
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51569	UFM1	OMIM:617899
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6873	TAF2	OMIM:615599
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6873	TAF2	ORPHA:397951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10059	DNM1L	OMIM:614388
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60684	TRAPPC11	OMIM:615356
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60684	TRAPPC11	ORPHA:369847
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7355	SLC35A2	ORPHA:356961
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7355	SLC35A2	OMIM:300896
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1593	CYP27A1	OMIM:213700
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81857	MED25	OMIM:616449
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81857	MED25	ORPHA:464738
HP:0007369	Atrophy/Degeneration affecting the cerebrum	347734	SLC35B2	OMIM:620269
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2720	GLB1	OMIM:230600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10466	COG5	OMIM:613612
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1786	DNMT1	ORPHA:314404
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1786	DNMT1	OMIM:614116
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84942	WDR73	OMIM:251300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10667	FARS2	OMIM:614946
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80222	TARS2	OMIM:615918
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64324	NSD1	ORPHA:821
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29072	SETD2	ORPHA:821
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10297	APC2	ORPHA:821
HP:0007369	Atrophy/Degeneration affecting the cerebrum	154881	KCTD7	ORPHA:263516
HP:0007369	Atrophy/Degeneration affecting the cerebrum	154881	KCTD7	OMIM:611726
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4552	MTRR	OMIM:236270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4784	NFIX	ORPHA:447980
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4784	NFIX	OMIM:602535
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57165	GJC2	OMIM:608804
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3074	HEXB	ORPHA:309162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	162	AP1B1	OMIM:242150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51741	WWOX	OMIM:616211
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51741	WWOX	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9442	MED27	OMIM:619286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	477	ATP1A2	OMIM:619605
HP:0007369	Atrophy/Degeneration affecting the cerebrum	477	ATP1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	101060691	NUTM2B-AS1	OMIM:618637
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1841	DTYMK	OMIM:619847
HP:0007369	Atrophy/Degeneration affecting the cerebrum	375387	NRROS	OMIM:618875
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54982	CLN6	OMIM:204300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80055	PGAP1	OMIM:615802
HP:0007369	Atrophy/Degeneration affecting the cerebrum	16	AARS1	OMIM:616339
HP:0007369	Atrophy/Degeneration affecting the cerebrum	16	AARS1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5610	EIF2AK2	OMIM:618877
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54476	RNF216	OMIM:212840
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26580	BSCL2	OMIM:615924
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26580	BSCL2	ORPHA:363400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55768	NGLY1	ORPHA:404454
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1161	ERCC8	OMIM:216400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26153	KIF26A	OMIM:620156
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9382	COG1	OMIM:611209
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79693	YRDC	OMIM:619609
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51324	SPG21	OMIM:248900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23250	ATP11A	OMIM:619851
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7345	UCHL1	OMIM:615491
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5105	PCK1	OMIM:261680
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64207	IRF2BPL	OMIM:618088
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7343	UBTF	OMIM:617672
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7343	UBTF	ORPHA:500180
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55037	PTCD3	OMIM:619057
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91869	RFT1	ORPHA:244310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91869	RFT1	OMIM:612015
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7084	TK2	OMIM:609560
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7084	TK2	ORPHA:254886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55157	DARS2	ORPHA:137898
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	OMIM:610003
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	ORPHA:1947
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	OMIM:600143
HP:0007369	Atrophy/Degeneration affecting the cerebrum	93627	TBCK	OMIM:616900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2260	FGFR1	ORPHA:2396
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3845	KRAS	ORPHA:2396
HP:0007369	Atrophy/Degeneration affecting the cerebrum	114034	TOE1	OMIM:614969
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1509	CTSD	OMIM:610127
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2074	ERCC6	OMIM:278800
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2074	ERCC6	OMIM:133540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7841	MOGS	OMIM:606056
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8772	FADD	OMIM:613759
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8772	FADD	ORPHA:306550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54675	CRLS1	OMIM:620167
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1716	DGUOK	OMIM:251880
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5095	PCCA	OMIM:606054
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5096	PCCB	OMIM:606054
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8802	SUCLG1	OMIM:245400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8802	SUCLG1	ORPHA:17
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57531	HACE1	ORPHA:464282
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57531	HACE1	OMIM:616756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7466	WFS1	OMIM:222300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1327	COX4I1	OMIM:619060
HP:0007369	Atrophy/Degeneration affecting the cerebrum	833	CARS1	OMIM:618891
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5833	PCYT2	OMIM:618770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57178	ZMIZ1	OMIM:618659
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55775	TDP1	OMIM:607250
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10352	WARS2	ORPHA:572798
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10352	WARS2	OMIM:617710
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1201	CLN3	OMIM:204200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4338	MOCS2	OMIM:252160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4598	MVK	OMIM:610377
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3737	KCNA2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1759	DNM1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8120	AP3B2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8120	AP3B2	OMIM:617276
HP:0007369	Atrophy/Degeneration affecting the cerebrum	523	ATP6V1A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	523	ATP6V1A	OMIM:618012
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10991	SLC38A3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51343	FZR1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22906	TRAK1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2566	GABRG2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1917	EEF1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1917	EEF1A2	OMIM:616393
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2561	GABRB2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8831	SYNGAP1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7532	YWHAG	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79876	UBA5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79876	UBA5	OMIM:617132
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6328	SCN3A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2558	GABRA5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	781	CACNA2D1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2906	GRIN2D	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2906	GRIN2D	OMIM:617162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	116150	NUS1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10659	CELF2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	774	CACNA1B	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	774	CACNA1B	OMIM:618497
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1213	CLTC	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23334	SZT2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51412	ACTL6B	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51412	ACTL6B	OMIM:618468
HP:0007369	Atrophy/Degeneration affecting the cerebrum	348980	HCN1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6506	SLC1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6506	SLC1A2	OMIM:617105
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8867	SYNJ1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2258	FGF13	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2258	FGF13	OMIM:301058
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3745	KCNB1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	284111	SLC13A5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25977	NECAP1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6334	SCN8A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6334	SCN8A	OMIM:614558
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22866	CNKSR2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9568	GABBR2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2555	GABRA2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55152	DALRD3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	773	CACNA1A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26999	CYFIP2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26999	CYFIP2	OMIM:618008
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4915	NTRK2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25973	PARS2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23097	CDK19	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23097	CDK19	OMIM:618916
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64801	ARV1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79947	DHDDS	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2257	FGF12	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5530	PPP3CA	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5530	PPP3CA	OMIM:617711
HP:0007369	Atrophy/Degeneration affecting the cerebrum	478	ATP1A3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54872	PIGG	OMIM:616917
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26040	SETBP1	OMIM:269150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3265	HRAS	OMIM:218040
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5826	ABCD4	OMIM:614857
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9895	TECPR2	OMIM:615031
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9895	TECPR2	ORPHA:320385
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51604	PIGT	OMIM:615398
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84504	NKX6-2	ORPHA:527497
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23126	POGZ	OMIM:616364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56006	SMG9	OMIM:616920
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54902	TTC19	OMIM:615157
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92609	TIMM50	OMIM:617698
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92609	TIMM50	ORPHA:505216
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51692	CPSF3	OMIM:619876
HP:0007369	Atrophy/Degeneration affecting the cerebrum	285175	UNC80	OMIM:616801
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8021	NUP214	OMIM:618426
HP:0007369	Atrophy/Degeneration affecting the cerebrum	90624	LYRM7	OMIM:615838
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10056	FARSB	OMIM:613658
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5428	POLG	OMIM:203700
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5428	POLG	ORPHA:254886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79751	SLC25A22	OMIM:609304
HP:0007369	Atrophy/Degeneration affecting the cerebrum	285362	SUMF1	OMIM:272200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56052	ALG1	ORPHA:79327
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56052	ALG1	OMIM:608540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79796	ALG9	ORPHA:79328
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5521	PPP2R2B	ORPHA:98762
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54828	BCAS3	OMIM:619641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	253959	RALGAPA1	OMIM:618797
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8481	OFD1	OMIM:311200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64135	IFIH1	OMIM:615846
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10531	PITRM1	OMIM:619405
HP:0007369	Atrophy/Degeneration affecting the cerebrum	256471	MFSD8	OMIM:610951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23065	EMC1	ORPHA:480898
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23065	EMC1	OMIM:616875
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55343	SLC35C1	ORPHA:99843
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2271	FH	OMIM:606812
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23556	PIGN	OMIM:614080
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11152	WDR45	OMIM:300894
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11152	WDR45	ORPHA:329284
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22880	MORC2	OMIM:619090
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55739	NAXD	OMIM:618321
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23162	MAPK8IP3	OMIM:618443
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5917	RARS1	OMIM:616140
HP:0007369	Atrophy/Degeneration affecting the cerebrum	259232	NALCN	OMIM:616266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	339855	KY	ORPHA:496689
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55275	VPS53	OMIM:615851
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3785	KCNQ2	ORPHA:439218
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29960	MRM2	OMIM:618567
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23219	FBXO28	OMIM:619777
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5824	PEX19	OMIM:614886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23189	KANK1	OMIM:612900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	OMIM:614409
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	ORPHA:352641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	ORPHA:320391
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85021	REPS1	OMIM:617916
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8813	DPM1	ORPHA:79322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6314	ATXN7	ORPHA:94147
HP:0007369	Atrophy/Degeneration affecting the cerebrum	28962	OSTM1	OMIM:259720
HP:0007369	Atrophy/Degeneration affecting the cerebrum	28962	OSTM1	ORPHA:85179
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10195	ALG3	OMIM:601110
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26100	WIPI2	OMIM:618453
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10533	ATG7	OMIM:619422
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10159	ATP6AP2	OMIM:300423
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7040	TGFB1	OMIM:618213
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81570	CLPB	OMIM:616271
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81570	CLPB	ORPHA:445038
HP:0007369	Atrophy/Degeneration affecting the cerebrum	133686	NADK2	OMIM:616034
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51693	TRAPPC2L	OMIM:618331
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84188	FAR1	OMIM:616154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57017	COQ9	OMIM:614654
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27429	HTRA2	OMIM:617248
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22907	DHX30	OMIM:617804
HP:0007369	Atrophy/Degeneration affecting the cerebrum	58497	PRUNE1	ORPHA:544469
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51013	EXOSC1	OMIM:619304
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7407	VARS1	OMIM:617802
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8260	NAA10	ORPHA:276432
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8260	NAA10	OMIM:300855
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26123	TCTN3	OMIM:258860
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10075	HUWE1	OMIM:309590
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6309	SC5D	OMIM:607330
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6323	SCN1A	OMIM:607208
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91949	COG7	OMIM:608779
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4137	MAPT	OMIM:601104
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9759	HDAC4	OMIM:619797
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79621	RNASEH2B	OMIM:610181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23516	SLC39A14	OMIM:617013
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23516	SLC39A14	ORPHA:521406
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8506	CNTNAP1	OMIM:616286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7167	TPI1	OMIM:615512
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64116	SLC39A8	OMIM:616721
HP:0007369	Atrophy/Degeneration affecting the cerebrum	132	ADK	OMIM:614300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6513	SLC2A1	OMIM:612126
HP:0007369	Atrophy/Degeneration affecting the cerebrum	53616	ADAM22	OMIM:617933
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9526	MPDU1	OMIM:609180
HP:0007369	Atrophy/Degeneration affecting the cerebrum	546	ATRX	OMIM:301040
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4838	NODAL	OMIM:270100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8050	PDHX	ORPHA:255182
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128869	PIGU	OMIM:618590
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10733	PLK4	OMIM:616171
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9150	CTDP1	OMIM:604168
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9131	AIFM1	ORPHA:83629
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57465	TBC1D24	OMIM:220500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57465	TBC1D24	OMIM:615338
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11277	TREX1	OMIM:225750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4695	NDUFA2	OMIM:618235
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79868	ALG13	OMIM:300884
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5859	QARS1	OMIM:615760
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57520	HECW2	OMIM:617268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5160	PDHA1	OMIM:312170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5160	PDHA1	ORPHA:79243
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1806	DPYD	OMIM:274270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1806	DPYD	ORPHA:1675
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112939	NACC1	ORPHA:500545
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112939	NACC1	OMIM:617393
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51010	EXOSC3	OMIM:614678
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54822	TRPM7	OMIM:105500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1760	DMPK	OMIM:160900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2891	GRIA2	OMIM:618917
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5934	RBL2	OMIM:619690
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79709	COLGALT1	OMIM:618360
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5071	PRKN	OMIM:600116
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84340	GFM2	ORPHA:565624
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84340	GFM2	OMIM:618397
HP:0007369	Atrophy/Degeneration affecting the cerebrum	63925	ZNF335	OMIM:615095
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22930	RAB3GAP1	OMIM:600118
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4704	NDUFA9	OMIM:618247
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55906	ZC4H2	OMIM:314580
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23732	FRRS1L	OMIM:616981
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79641	ROGDI	OMIM:226750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6601	SMARCC2	OMIM:618362
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6709	SPTAN1	OMIM:613477
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2058	EPRS1	OMIM:617951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7965	AIMP2	OMIM:618006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80746	TSEN2	OMIM:612389
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2917	GRM7	OMIM:618922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29940	DSE	OMIM:615539
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9361	LONP1	ORPHA:79243
HP:0007369	Atrophy/Degeneration affecting the cerebrum	549	AUH	OMIM:250950
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56652	TWNK	OMIM:609286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6821	SUOX	OMIM:272300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1781	DYNC1I2	OMIM:618492
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5422	POLA1	OMIM:301030
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5611	DNAJC3	OMIM:616192
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5611	DNAJC3	ORPHA:445062
HP:0007369	Atrophy/Degeneration affecting the cerebrum	127833	SYT2	OMIM:619461
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4714	NDUFB8	OMIM:618252
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1822	ATN1	OMIM:618494
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4761	NEUROD2	OMIM:618374
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84896	ATAD1	OMIM:618011
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57511	COG6	OMIM:614576
HP:0007369	Atrophy/Degeneration affecting the cerebrum	175	AGA	OMIM:208400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25839	COG4	OMIM:613489
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128989	TANGO2	OMIM:616878
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55644	OSGEP	OMIM:617729
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57572	DOCK6	OMIM:614219
HP:0007369	Atrophy/Degeneration affecting the cerebrum	220296	HEPACAM	OMIM:613925
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4548	MTR	OMIM:250940
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2313	FLI1	ORPHA:2308
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3028	HSD17B10	ORPHA:391428
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9997	SCO2	OMIM:604377
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83480	PUS3	OMIM:617051
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8943	AP3D1	OMIM:617050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80347	COASY	OMIM:618266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57498	KIDINS220	OMIM:617296
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3975	LHX1	ORPHA:261265
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6928	HNF1B	ORPHA:261265
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57003	CCDC47	OMIM:618268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51095	TRNT1	OMIM:616084
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112858	TP53RK	OMIM:617730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11019	LIAS	OMIM:614462
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8270	LAGE3	OMIM:301006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6812	STXBP1	OMIM:612164
HP:0007369	Atrophy/Degeneration affecting the cerebrum	94005	PIGS	OMIM:618143
HP:0007369	Atrophy/Degeneration affecting the cerebrum	145173	B3GLCT	OMIM:261540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57468	SLC12A5	OMIM:616645
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2517	FUCA1	OMIM:230000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4337	MOCS1	OMIM:252150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23040	MYT1L	OMIM:616521
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3704	ITPA	OMIM:616647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51091	SEPSECS	OMIM:613811
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25914	RTTN	ORPHA:468631
HP:0007369	Atrophy/Degeneration affecting the cerebrum	203228	C9orf72	OMIM:105550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80781	COL18A1	OMIM:267750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2571	GAD1	OMIM:619124
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100147744	RNU7-1	OMIM:619487
HP:0007369	Atrophy/Degeneration affecting the cerebrum	90522	YIF1B	OMIM:619125
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2760	GM2A	ORPHA:309246
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2760	GM2A	OMIM:272750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	440138	ALG11	ORPHA:280071
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51715	RAB23	OMIM:201000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91875	TTC5	OMIM:619244
HP:0007369	Atrophy/Degeneration affecting the cerebrum	134353	LSM11	OMIM:619486
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1200	TPP1	OMIM:204500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57038	RARS2	OMIM:611523
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6509	SLC1A4	OMIM:616657
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6663	SOX10	OMIM:609136
HP:0007369	Atrophy/Degeneration affecting the cerebrum	617	BCS1L	OMIM:124000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4094	MAF	OMIM:601088
HP:0007369	Atrophy/Degeneration affecting the cerebrum	95	ACY1	OMIM:609924
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10084	PQBP1	OMIM:309500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54802	TRIT1	OMIM:617873
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29920	PYCR2	OMIM:616420
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84231	TRAF7	OMIM:618164
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26503	SLC17A5	OMIM:269920
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9197	SLC33A1	OMIM:614482
HP:0007369	Atrophy/Degeneration affecting the cerebrum	200205	IBA57	OMIM:615330
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10274	STAG1	OMIM:617635
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5538	PPT1	OMIM:256730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2733	GLE1	OMIM:611890
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9487	PIGL	OMIM:280000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	727676	SNORD118	ORPHA:542310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54187	NANS	OMIM:610442
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2806	GOT2	OMIM:618721
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25974	MMACHC	ORPHA:79282
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1719	DHFR	OMIM:613839
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3778	KCNMA1	OMIM:618729
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4668	NAGA	OMIM:609242
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54936	ADPRS	OMIM:618170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64802	NMNAT1	OMIM:619260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2629	GBA1	OMIM:230900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51075	TMX2	OMIM:618730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8884	SLC5A6	OMIM:618973
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7305	TYROBP	OMIM:221770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55331	ACER3	OMIM:617762
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2902	GRIN1	OMIM:614254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8803	SUCLA2	OMIM:612073
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92935	MARS2	OMIM:616430
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79587	CARS2	OMIM:616672
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22827	PUF60	OMIM:615583
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85378	TUBGCP6	OMIM:251270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8398	PLA2G6	OMIM:256600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8398	PLA2G6	OMIM:610217
HP:0007369	Atrophy/Degeneration affecting the cerebrum	547	KIF1A	OMIM:614255
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10535	RNASEH2A	OMIM:610333
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55753	OGDHL	OMIM:619701
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22868	FASTKD2	OMIM:618855
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27445	PCLO	OMIM:608027
HP:0007369	Atrophy/Degeneration affecting the cerebrum	374654	KIF7	ORPHA:166024
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25792	CIZ1	ORPHA:420492
HP:0007369	Atrophy/Degeneration affecting the cerebrum	400916	CHCHD10	OMIM:615911
HP:0007369	Atrophy/Degeneration affecting the cerebrum	673	BRAF	OMIM:115150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	673	BRAF	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54820	NDE1	ORPHA:2177
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7360	UGP2	OMIM:618744
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5457	POU4F1	ORPHA:314647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23261	CAMTA1	ORPHA:314647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23261	CAMTA1	OMIM:614756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8496	PPFIBP1	OMIM:620024
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6687	SPG7	ORPHA:99013
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6687	SPG7	OMIM:607259
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	OMIM:618193
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	ORPHA:2770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4125	MAN2B1	ORPHA:309282
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4125	MAN2B1	ORPHA:309288
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4125	MAN2B1	OMIM:248500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51112	TRAPPC12	ORPHA:500144
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51112	TRAPPC12	OMIM:617669
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54968	TMEM70	ORPHA:1194
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3020	H3-3A	OMIM:619720
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8722	CTSF	OMIM:615362
HP:0007369	Atrophy/Degeneration affecting the cerebrum	387787	LIPT2	OMIM:617668
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84520	GON7	OMIM:619603
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23431	AP4E1	OMIM:613744
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23431	AP4E1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57582	KCNT1	OMIM:614959
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10978	CLP1	OMIM:615803
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79158	GNPTAB	OMIM:252500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	271	AMPD2	OMIM:615809
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5189	PEX1	OMIM:214100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55650	PIGV	OMIM:239300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2192	FBLN1	ORPHA:404451
HP:0007369	Atrophy/Degeneration affecting the cerebrum	348	APOE	OMIM:607822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5663	PSEN1	OMIM:607822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5663	PSEN1	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51360	MBTPS2	ORPHA:2273
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	OMIM:616586
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	ORPHA:447760
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9326	ZNHIT3	ORPHA:2836
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2018	EMX2	OMIM:269160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6496	SIX3	OMIM:269160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6469	SHH	OMIM:269160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5191	PEX7	OMIM:215100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2332	FMR1	ORPHA:93256
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2332	FMR1	ORPHA:908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	ORPHA:513436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	ORPHA:306674
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	OMIM:617225
HP:0007369	Atrophy/Degeneration affecting the cerebrum	652	BMP4	OMIM:607932
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57231	SNX14	OMIM:616354
HP:0007369	Atrophy/Degeneration affecting the cerebrum	132158	GLYCTK	OMIM:220120
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10347	ABCA7	OMIM:608907
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10347	ABCA7	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	246243	RNASEH1	OMIM:616479
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51761	ATP8A2	OMIM:615268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4582	MUC1	OMIM:174000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57338	JPH3	ORPHA:98934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57338	JPH3	OMIM:606438
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23265	EXOC7	OMIM:619072
HP:0007369	Atrophy/Degeneration affecting the cerebrum	699	BUB1	OMIM:620183
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1798	DPAGT1	ORPHA:86309
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55699	IARS2	OMIM:616007
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6804	STX1A	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7461	CLIP2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84277	DNAJC30	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8468	FKBP6	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5982	RFC2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2969	GTF2I	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3984	LIMK1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9569	GTF2IRD1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	155382	VPS37D	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	155368	METTL27	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	114049	BUD23	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7458	EIF4H	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84163	GTF2IRD2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9275	BCL7B	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26608	TBL2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	653361	NCF1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	135886	TMEM270	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51085	MLXIPL	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9031	BAZ1B	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2006	ELN	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11340	EXOSC8	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11340	EXOSC8	OMIM:616081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23287	AGTPBP1	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7443	VRK1	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7443	VRK1	OMIM:607596
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91137	SLC25A46	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4191	MDH2	OMIM:617339
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5590	PRKCZ	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2563	GABRD	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23013	SPEN	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8510	MMP23B	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7798	LUZP1	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6497	SKI	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10630	PDPN	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3339	HSPG2	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10277	UBE4B	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8514	KCNAB2	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	473	RERE	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	63976	PRDM16	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54897	CASZ1	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	493856	CISD2	ORPHA:3463
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6638	SNRPN	OMIM:105830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6638	SNRPN	ORPHA:177907
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7337	UBE3A	OMIM:105830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	ORPHA:464311
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	ORPHA:268261
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	OMIM:614104
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2896	GRN	OMIM:607485
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11128	POLR3A	ORPHA:447896
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11128	POLR3A	OMIM:607694
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8517	IKBKG	ORPHA:464
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4644	MYO5A	ORPHA:33445
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51633	OTUD6B	ORPHA:505237
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5621	PRNP	ORPHA:157941
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56098	PCDHGC4	OMIM:619880
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54499	TMCO1	ORPHA:1394
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9562	MINPP1	OMIM:619527
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6311	ATXN2	ORPHA:98756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8573	CASK	ORPHA:163937
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54941	RNF125	OMIM:616260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:1387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:401830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	283989	TSEN54	OMIM:277470
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5664	PSEN2	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10452	TOMM40	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	351	APP	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6653	SORL1	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	404672	GTF2H5	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7737	RNF113A	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	136647	MPLKIP	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	136647	MPLKIP	OMIM:234050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6897	TARS1	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2071	ERCC3	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2071	ERCC3	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2961	GTF2E2	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51750	RTEL1	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	65057	ACD	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5073	PARN	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7015	TERT	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26277	TINF2	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1736	DKC1	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79053	ALG8	ORPHA:79325
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2776	GNAQ	ORPHA:3205
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2776	GNAQ	OMIM:185300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8295	TRRAP	OMIM:618454
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2583	B4GALNT1	OMIM:609195
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2583	B4GALNT1	ORPHA:101006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11232	POLG2	OMIM:619425
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57724	EPG5	ORPHA:1493
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4204	MECP2	OMIM:312750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81603	TRIM8	OMIM:619428
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5277	PIGA	OMIM:301072
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5277	PIGA	OMIM:300868
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7507	XPA	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7508	XPC	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1643	DDB2	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2072	ERCC4	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2073	ERCC5	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2073	ERCC5	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55703	POLR3B	OMIM:607694
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1203	CLN5	ORPHA:228360
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1203	CLN5	OMIM:256731
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4558	MT-TF	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4572	MT-TQ	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4512	MT-CO1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4513	MT-CO2	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4514	MT-CO3	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4578	MT-TW	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4540	MT-ND5	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4541	MT-ND6	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4535	MT-ND1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4538	MT-ND4	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4567	MT-TL1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4574	MT-TS1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4575	MT-TS2	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4564	MT-TH	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27238	GPKOW	ORPHA:2570
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8925	HERC1	OMIM:617011
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8925	HERC1	ORPHA:457359
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54832	VPS13C	OMIM:616840
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55746	NUP133	OMIM:618349
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79813	EHMT1	ORPHA:96147
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57679	ALS2	OMIM:606353
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27249	MMADHC	OMIM:277410
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55630	SLC39A4	ORPHA:37
HP:0007369	Atrophy/Degeneration affecting the cerebrum	116461	TSEN15	OMIM:617026
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8085	KMT2D	ORPHA:2322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7403	KDM6A	ORPHA:2322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	998	CDC42	OMIM:616737
HP:0007369	Atrophy/Degeneration affecting the cerebrum	50	ACO2	OMIM:614559
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10166	SLC25A15	ORPHA:415
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10166	SLC25A15	OMIM:238970
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6904	TBCD	ORPHA:496641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29925	GMPPB	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79147	FKRP	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9215	LARGE1	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10585	POMT1	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56915	EXOSC5	OMIM:619576
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23221	RHOBTB2	OMIM:618004
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2067	ERCC1	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54834	GDAP2	OMIM:618369
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23317	DNAJC13	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1981	EIF4G1	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55737	VPS35	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	120892	LRRK2	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26058	GIGYF2	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6622	SNCA	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5604	MAP2K1	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5605	MAP2K2	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51608	GET4	OMIM:620200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100506658	OCLN	ORPHA:1229
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9758	FRMPD4	OMIM:300983
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83696	TRAPPC9	ORPHA:352530
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128637	TBC1D20	OMIM:615663
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128637	TBC1D20	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23476	BRD4	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9126	SMC3	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8243	SMC1A	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25836	NIPBL	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55869	HDAC8	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5885	RAD21	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9791	PTDSS1	OMIM:151050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7399	USH2A	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79955	PDZD7	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4647	MYO7A	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4647	MYO7A	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25861	WHRN	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84059	ADGRV1	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6197	RPS6KA3	ORPHA:192
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10815	CPLX1	OMIM:617976
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22931	RAB18	OMIM:614222
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22931	RAB18	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8905	AP1S2	ORPHA:1568
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10283	CWC27	ORPHA:166035
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60558	GUF1	OMIM:617065
HP:0007369	Atrophy/Degeneration affecting the cerebrum	122553	TRAPPC6B	OMIM:617862
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57688	ZSWIM6	OMIM:617865
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2893	GRIA4	OMIM:617864
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79152	FA2H	ORPHA:171629
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55164	SHQ1	OMIM:619922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6785	ELOVL4	OMIM:133190
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3090	HIC1	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5048	PAFAH1B1	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7531	YWHAE	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10717	AP4B1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9179	AP4M1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11154	AP4S1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25978	CHMP2B	OMIM:600795
HP:0007369	Atrophy/Degeneration affecting the cerebrum	340533	NEXMIF	ORPHA:85277
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10479	SLC9A6	ORPHA:85278
HP:0007369	Atrophy/Degeneration affecting the cerebrum	777	CACNA1E	OMIM:618285
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27229	TUBGCP4	ORPHA:2518
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55005	RMND1	OMIM:614922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4693	NDP	ORPHA:649
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4508	MT-ATP6	ORPHA:644
HP:0007369	Atrophy/Degeneration affecting the cerebrum	71	ACTG1	ORPHA:2995
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60	ACTB	ORPHA:2995
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2801	GOLGA2	OMIM:620240
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23299	BICD2	OMIM:618291
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64072	CDH23	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10083	USH1C	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	124590	USH1G	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83715	ESPN	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10518	CIB2	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	65217	PCDH15	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23404	EXOSC2	OMIM:617763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	221692	PHACTR1	OMIM:618298
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4858	NOVA2	OMIM:618859
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29110	TBK1	OMIM:616439
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9373	PLAA	OMIM:617527
HP:0007369	Atrophy/Degeneration affecting the cerebrum	170302	ARX	ORPHA:2508
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8878	SQSTM1	OMIM:616437
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5052	PRDX1	OMIM:277400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	267010	RNU12	ORPHA:512260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1678	TIMM8A	ORPHA:52368
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2512	FTL	ORPHA:157846
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4750	NEK1	OMIM:617892
HP:0007369	Atrophy/Degeneration affecting the cerebrum	93986	FOXP2	ORPHA:209908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79133	NDUFAF5	OMIM:618238
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5654	HTRA1	ORPHA:199354
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27235	COQ2	OMIM:607426
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64601	VPS16	OMIM:619291
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7384	UQCRC1	OMIM:619279
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22796	COG2	OMIM:617395
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22796	COG2	ORPHA:435934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	686	BTD	OMIM:253260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2581	GALC	ORPHA:206436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2581	GALC	OMIM:245200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5660	PSAP	ORPHA:206436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1717	DHCR7	OMIM:270400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23203	PMPCA	ORPHA:1170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2232	FDXR	ORPHA:543470
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2903	GRIN2A	ORPHA:289266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5575	PRKAR1B	ORPHA:412066
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51473	DCDC2	ORPHA:84081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91147	TMEM67	ORPHA:84081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9440	MED17	OMIM:613668
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6792	CDKL5	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3736	KCNA1	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9091	PIGQ	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	150094	SIK1	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23312	DMXL2	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11284	PNKP	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6326	SCN2A	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51227	PIGP	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6324	SCN1B	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6908	TBP	OMIM:607136
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7074	TIAM1	OMIM:619908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79989	IFT56	OMIM:619534
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54664	TMEM106B	ORPHA:275864
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54664	TMEM106B	ORPHA:100070
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4208	MEF2C	ORPHA:228384
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2892	GRIA3	OMIM:300699
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80208	SPG11	ORPHA:2822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23230	VPS13A	ORPHA:2388
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4983	OPHN1	ORPHA:137831
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55681	SCYL2	OMIM:618766
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3097	HIVEP2	OMIM:616977
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7415	VCP	OMIM:167320
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1528	CYB5A	ORPHA:621
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1727	CYB5R3	ORPHA:621
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29954	POMT2	ORPHA:206559
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6335	SCN9A	ORPHA:36387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112755	STX1B	ORPHA:36387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5147	PDE6D	OMIM:615665
HP:0007369	Atrophy/Degeneration affecting the cerebrum	104	ADARB1	OMIM:618862
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2639	GCDH	ORPHA:25
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80025	PANK2	OMIM:607236
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4976	OPA1	ORPHA:98673
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1436	CSF1R	OMIM:221820
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4099	MAG	OMIM:616680
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51728	POLR3K	OMIM:619310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9255	AIMP1	OMIM:260600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3295	HSD17B4	OMIM:261515
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4001	LMNB1	OMIM:169500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27072	VPS41	OMIM:619389
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9409	PEX16	OMIM:614877
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79944	L2HGDH	OMIM:236792
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23636	NUP62	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	103	ADAR	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10273	STUB1	ORPHA:412057
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26278	SACS	ORPHA:98
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10430	TMEM147	OMIM:620075
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85440	DOCK7	ORPHA:411986
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23729	SHPK	ORPHA:440713
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100151683	RNU4ATAC	ORPHA:353298
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57094	CPA6	OMIM:614418
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29998	BICRA	OMIM:619325
HP:0033213	Elevated urine suberic acid level	763	CA5A	OMIM:615751
HP:0033213	Elevated urine suberic acid level	23417	MLYCD	OMIM:248360
HP:0033212	Abnormal total iron binding capacity	9493	KIF23	ORPHA:98870
HP:0033212	Abnormal total iron binding capacity	29127	RACGAP1	ORPHA:98870
HP:0033212	Abnormal total iron binding capacity	55532	SLC30A10	OMIM:613280
HP:0033212	Abnormal total iron binding capacity	55532	SLC30A10	ORPHA:309854
HP:0033212	Abnormal total iron binding capacity	5825	ABCD3	OMIM:616278
HP:0033214	Recurrent viral pneumonia	64135	IFIH1	OMIM:619773
HP:0033220	2-ethylhydracylic aciduria	36	ACADSB	OMIM:610006
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6253	RTN2	ORPHA:100993
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	51271	UBAP1	ORPHA:100993
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	126129	CPT1C	ORPHA:444099
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9897	WASHC5	OMIM:603563
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9897	WASHC5	ORPHA:100989
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	123606	NIPA1	OMIM:600363
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6687	SPG7	OMIM:607259
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	3839	KPNA3	ORPHA:171612
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9197	SLC33A1	ORPHA:171863
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6683	SPAST	OMIM:182601
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	51062	ATL1	OMIM:182600
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6647	SOD1	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5630	PRPH	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1639	DCTN1	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4744	NEFH	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5354	PLP1	OMIM:312920
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2521	FUS	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	8878	SQSTM1	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7415	VCP	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	23435	TARDBP	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	29110	TBK1	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	400916	CHCHD10	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	80208	SPG11	OMIM:604360
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4508	MT-ATP6	ORPHA:644
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4508	MT-ATP6	OMIM:551500
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6804	STX1A	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7461	CLIP2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	84277	DNAJC30	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	8468	FKBP6	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5982	RFC2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2969	GTF2I	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	3984	LIMK1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9569	GTF2IRD1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	155382	VPS37D	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	155368	METTL27	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	114049	BUD23	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7458	EIF4H	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	84163	GTF2IRD2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9275	BCL7B	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	26608	TBL2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	653361	NCF1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	135886	TMEM270	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	51085	MLXIPL	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9031	BAZ1B	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2006	ELN	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	215	ABCD1	ORPHA:139399
HP:0007373	Motor neuron atrophy	23064	SETX	OMIM:602433
HP:0007373	Motor neuron atrophy	427	ASAH1	OMIM:159950
HP:0007373	Motor neuron atrophy	7317	UBA1	OMIM:301830
HP:0007373	Motor neuron atrophy	7317	UBA1	ORPHA:1145
HP:0007373	Motor neuron atrophy	65250	CPLANE1	ORPHA:65684
HP:0007373	Motor neuron atrophy	57562	CEP126	ORPHA:65684
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:253550
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:271150
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:253400
HP:0007373	Motor neuron atrophy	11340	EXOSC8	ORPHA:2254
HP:0007373	Motor neuron atrophy	5393	EXOSC9	ORPHA:2254
HP:0007373	Motor neuron atrophy	23287	AGTPBP1	ORPHA:2254
HP:0007373	Motor neuron atrophy	51010	EXOSC3	ORPHA:2254
HP:0007373	Motor neuron atrophy	7443	VRK1	ORPHA:2254
HP:0007373	Motor neuron atrophy	7443	VRK1	OMIM:607596
HP:0007373	Motor neuron atrophy	91137	SLC25A46	ORPHA:2254
HP:0007373	Motor neuron atrophy	10342	TFG	OMIM:604484
HP:0007373	Motor neuron atrophy	6647	SOD1	OMIM:105400
HP:0007373	Motor neuron atrophy	5630	PRPH	OMIM:105400
HP:0007373	Motor neuron atrophy	1639	DCTN1	OMIM:105400
HP:0007373	Motor neuron atrophy	4744	NEFH	OMIM:105400
HP:0007373	Motor neuron atrophy	311	ANXA11	OMIM:617839
HP:0007373	Motor neuron atrophy	4287	ATXN3	ORPHA:276244
HP:0007373	Motor neuron atrophy	3508	IGHMBP2	OMIM:604320
HP:0007373	Motor neuron atrophy	6607	SMN2	OMIM:253400
HP:0007373	Motor neuron atrophy	4137	MAPT	OMIM:600274
HP:0007373	Motor neuron atrophy	5663	PSEN1	OMIM:600274
HP:0007373	Motor neuron atrophy	1540	CYLD	OMIM:619132
HP:0007373	Motor neuron atrophy	7072	TIA1	OMIM:619133
HP:0007373	Motor neuron atrophy	57679	ALS2	OMIM:205100
HP:0007373	Motor neuron atrophy	57679	ALS2	ORPHA:300605
HP:0007373	Motor neuron atrophy	7277	TUBA4A	OMIM:616208
HP:0007373	Motor neuron atrophy	80208	SPG11	OMIM:602099
HP:0007373	Motor neuron atrophy	80208	SPG11	ORPHA:300605
HP:0007373	Motor neuron atrophy	203228	C9orf72	OMIM:105550
HP:0007373	Motor neuron atrophy	10280	SIGMAR1	ORPHA:300605
HP:0007373	Motor neuron atrophy	10280	SIGMAR1	OMIM:614373
HP:0007373	Motor neuron atrophy	10558	SPTLC1	ORPHA:300605
HP:0007373	Motor neuron atrophy	3798	KIF5A	OMIM:617921
HP:0007373	Motor neuron atrophy	54822	TRPM7	OMIM:105500
HP:0007373	Motor neuron atrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0007373	Motor neuron atrophy	55131	RBM28	ORPHA:157954
HP:0007373	Motor neuron atrophy	25978	CHMP2B	ORPHA:803
HP:0007373	Motor neuron atrophy	3178	HNRNPA1	ORPHA:803
HP:0007373	Motor neuron atrophy	8148	TAF15	ORPHA:803
HP:0007373	Motor neuron atrophy	5445	PON2	ORPHA:803
HP:0007373	Motor neuron atrophy	9217	VAPB	ORPHA:803
HP:0007373	Motor neuron atrophy	8878	SQSTM1	ORPHA:803
HP:0007373	Motor neuron atrophy	29110	TBK1	ORPHA:803
HP:0007373	Motor neuron atrophy	55830	GLT8D1	ORPHA:803
HP:0007373	Motor neuron atrophy	755	CFAP410	ORPHA:803
HP:0007373	Motor neuron atrophy	10891	PPARGC1A	ORPHA:803
HP:0007373	Motor neuron atrophy	10133	OPTN	ORPHA:803
HP:0007373	Motor neuron atrophy	9896	FIG4	ORPHA:803
HP:0007373	Motor neuron atrophy	5444	PON1	ORPHA:803
HP:0007373	Motor neuron atrophy	5446	PON3	ORPHA:803
HP:0007373	Motor neuron atrophy	5216	PFN1	ORPHA:803
HP:0007373	Motor neuron atrophy	9782	MATR3	ORPHA:803
HP:0007373	Motor neuron atrophy	54209	TREM2	ORPHA:803
HP:0007373	Motor neuron atrophy	7415	VCP	ORPHA:803
HP:0007373	Motor neuron atrophy	283	ANG	ORPHA:803
HP:0007373	Motor neuron atrophy	23435	TARDBP	ORPHA:803
HP:0007373	Motor neuron atrophy	29978	UBQLN2	ORPHA:803
HP:0007373	Motor neuron atrophy	2733	GLE1	ORPHA:803
HP:0007373	Motor neuron atrophy	2521	FUS	ORPHA:803
HP:0007373	Motor neuron atrophy	4750	NEK1	ORPHA:803
HP:0007373	Motor neuron atrophy	2043	EPHA4	ORPHA:803
HP:0007373	Motor neuron atrophy	6311	ATXN2	ORPHA:803
HP:0007373	Motor neuron atrophy	1610	DAO	ORPHA:803
HP:0007373	Motor neuron atrophy	2066	ERBB4	ORPHA:803
HP:0007373	Motor neuron atrophy	23025	UNC13A	ORPHA:803
HP:0007373	Motor neuron atrophy	899	CCNF	ORPHA:803
HP:0007373	Motor neuron atrophy	400916	CHCHD10	ORPHA:803
HP:0007373	Motor neuron atrophy	5575	PRKAR1B	ORPHA:412066
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	54209	TREM2	OMIM:618193
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1678	TIMM8A	ORPHA:52368
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	3064	HTT	ORPHA:399
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	3064	HTT	OMIM:617435
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	6515	SLC2A3	ORPHA:399
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	26580	BSCL2	ORPHA:363400
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2512	FTL	ORPHA:157846
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	7305	TYROBP	OMIM:221770
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23230	VPS13A	OMIM:200150
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23230	VPS13A	ORPHA:2388
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4750	NEK1	OMIM:617892
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	93986	FOXP2	ORPHA:209908
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	79133	NDUFAF5	OMIM:618238
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4983	OPHN1	ORPHA:137831
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	57338	JPH3	ORPHA:98934
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4508	MT-ATP6	ORPHA:225154
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23636	NUP62	ORPHA:225154
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	103	ADAR	ORPHA:225154
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	OMIM:182230
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	4784	NFIX	OMIM:602535
HP:0007375	Abnormal septum pellucidum morphology	6748	SSR4	ORPHA:370927
HP:0007375	Abnormal septum pellucidum morphology	2263	FGFR2	ORPHA:87
HP:0007375	Abnormal septum pellucidum morphology	2263	FGFR2	OMIM:101200
HP:0007375	Abnormal septum pellucidum morphology	51360	MBTPS2	ORPHA:2273
HP:0007375	Abnormal septum pellucidum morphology	23007	PLCH1	OMIM:619895
HP:0007375	Abnormal septum pellucidum morphology	4593	MUSK	OMIM:208150
HP:0007375	Abnormal septum pellucidum morphology	23019	CNOT1	OMIM:618500
HP:0007375	Abnormal septum pellucidum morphology	1349	COX7B	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	1349	COX7B	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	3052	HCCS	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	3052	HCCS	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	54539	NDUFB11	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	54539	NDUFB11	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	9791	PTDSS1	ORPHA:2658
HP:0007375	Abnormal septum pellucidum morphology	4659	PPP1R12A	OMIM:618820
HP:0007375	Abnormal septum pellucidum morphology	2146	EZH2	OMIM:277590
HP:0007375	Abnormal septum pellucidum morphology	2260	FGFR1	ORPHA:2396
HP:0007375	Abnormal septum pellucidum morphology	2260	FGFR1	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	3845	KRAS	ORPHA:2396
HP:0007375	Abnormal septum pellucidum morphology	3845	KRAS	ORPHA:3339
HP:0007375	Abnormal septum pellucidum morphology	79813	EHMT1	ORPHA:96147
HP:0007375	Abnormal septum pellucidum morphology	3897	L1CAM	OMIM:307000
HP:0007375	Abnormal septum pellucidum morphology	3897	L1CAM	ORPHA:2182
HP:0007375	Abnormal septum pellucidum morphology	219844	HYLS1	OMIM:236680
HP:0007375	Abnormal septum pellucidum morphology	219844	HYLS1	ORPHA:2189
HP:0007375	Abnormal septum pellucidum morphology	80781	COL18A1	OMIM:267750
HP:0007375	Abnormal septum pellucidum morphology	79848	CSPP1	ORPHA:397715
HP:0007375	Abnormal septum pellucidum morphology	9786	KIAA0586	ORPHA:397715
HP:0007375	Abnormal septum pellucidum morphology	1781	DYNC1I2	OMIM:618492
HP:0007375	Abnormal septum pellucidum morphology	5626	PROP1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	2736	GLI2	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	89884	LHX4	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	3170	FOXA2	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5449	POU1F1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5015	OTX2	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5015	OTX2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	1718	DHCR24	ORPHA:35107
HP:0007375	Abnormal septum pellucidum morphology	11041	B4GAT1	OMIM:615287
HP:0007375	Abnormal septum pellucidum morphology	11041	B4GAT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	5277	PIGA	OMIM:300868
HP:0007375	Abnormal septum pellucidum morphology	55790	CSGALNACT1	OMIM:618870
HP:0007375	Abnormal septum pellucidum morphology	55215	FANCI	OMIM:609053
HP:0007375	Abnormal septum pellucidum morphology	22858	CILK1	OMIM:612651
HP:0007375	Abnormal septum pellucidum morphology	374654	KIF7	ORPHA:2189
HP:0007375	Abnormal septum pellucidum morphology	63895	PIEZO2	ORPHA:2461
HP:0007375	Abnormal septum pellucidum morphology	53834	FGFRL1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	1487	CTBP1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	3954	LETM1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	7468	NSD2	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	10815	CPLX1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	128674	PROKR2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	6657	SOX2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	6658	SOX3	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	9915	ARNT2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	84892	POMGNT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	148789	B3GALNT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	79147	FKRP	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	29954	POMT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	9215	LARGE1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	1282	COL4A1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	729920	CRPPA	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	10329	RXYLT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	1605	DAG1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	10585	POMT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	84197	POMK	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	2218	FKTN	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	55624	POMGNT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	2615	LRRC32	OMIM:619074
HP:0007375	Abnormal septum pellucidum morphology	54941	RNF125	OMIM:616260
HP:0007375	Abnormal septum pellucidum morphology	64324	NSD1	OMIM:117550
HP:0007375	Abnormal septum pellucidum morphology	64324	NSD1	ORPHA:821
HP:0007375	Abnormal septum pellucidum morphology	347733	TUBB2B	ORPHA:300573
HP:0007375	Abnormal septum pellucidum morphology	5528	PPP2R5D	ORPHA:457279
HP:0007375	Abnormal septum pellucidum morphology	8815	BANF1	OMIM:614008
HP:0007375	Abnormal septum pellucidum morphology	81857	MED25	ORPHA:464738
HP:0007375	Abnormal septum pellucidum morphology	81857	MED25	OMIM:616449
HP:0007375	Abnormal septum pellucidum morphology	3703	STT3A	OMIM:619714
HP:0007375	Abnormal septum pellucidum morphology	5048	PAFAH1B1	ORPHA:95232
HP:0007375	Abnormal septum pellucidum morphology	9939	RBM8A	OMIM:274000
HP:0007375	Abnormal septum pellucidum morphology	7080	NKX2-1	ORPHA:209905
HP:0007375	Abnormal septum pellucidum morphology	79087	ALG12	ORPHA:79324
HP:0007375	Abnormal septum pellucidum morphology	29072	SETD2	ORPHA:821
HP:0007375	Abnormal septum pellucidum morphology	10297	APC2	ORPHA:821
HP:0007375	Abnormal septum pellucidum morphology	7703	PCGF2	OMIM:618371
HP:0007375	Abnormal septum pellucidum morphology	129285	PPP1R21	OMIM:619383
HP:0007375	Abnormal septum pellucidum morphology	5290	PIK3CA	OMIM:602501
HP:0007375	Abnormal septum pellucidum morphology	55181	SMG8	OMIM:619268
HP:0007375	Abnormal septum pellucidum morphology	5594	MAPK1	OMIM:619087
HP:0007375	Abnormal septum pellucidum morphology	8550	MAPKAPK5	OMIM:619869
HP:0007375	Abnormal septum pellucidum morphology	55969	RAB5IF	OMIM:616994
HP:0007375	Abnormal septum pellucidum morphology	55690	PACS1	ORPHA:329224
HP:0007375	Abnormal septum pellucidum morphology	55690	PACS1	OMIM:615009
HP:0007375	Abnormal septum pellucidum morphology	4286	MITF	OMIM:617306
HP:0007375	Abnormal septum pellucidum morphology	57688	ZSWIM6	OMIM:603671
HP:0007375	Abnormal septum pellucidum morphology	6872	TAF1	OMIM:300966
HP:0007375	Abnormal septum pellucidum morphology	3417	IDH1	ORPHA:99646
HP:0007375	Abnormal septum pellucidum morphology	28514	DLL1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	2253	FGF8	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6496	SIX3	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	7050	TGIF1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	4838	NODAL	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6469	SHH	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	7546	ZIC2	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6491	STIL	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	2619	GAS1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	84976	DISP1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	8928	FOXH1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	5727	PTCH1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	10735	STAG2	OMIM:301043
HP:0007375	Abnormal septum pellucidum morphology	55717	WDR11	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	6091	ROBO1	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	50937	CDON	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	23432	GPR161	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	9578	CDC42BPB	OMIM:619841
HP:0007375	Abnormal septum pellucidum morphology	7473	WNT3	ORPHA:3301
HP:0007375	Abnormal septum pellucidum morphology	340419	RSPO2	ORPHA:3301
HP:0007376	Abnormal choroid plexus morphology	2271	FH	OMIM:606812
HP:0007376	Abnormal choroid plexus morphology	2294	FOXF1	OMIM:265380
HP:0007376	Abnormal choroid plexus morphology	27031	NPHP3	OMIM:267010
HP:0007376	Abnormal choroid plexus morphology	149371	EXOC8	OMIM:619076
HP:0007376	Abnormal choroid plexus morphology	23327	NEDD4L	OMIM:617201
HP:0007376	Abnormal choroid plexus morphology	112752	IFT43	OMIM:617866
HP:0007376	Abnormal choroid plexus morphology	10472	ZBTB18	OMIM:612337
HP:0007376	Abnormal choroid plexus morphology	57688	ZSWIM6	ORPHA:1827
HP:0007376	Abnormal choroid plexus morphology	57688	ZSWIM6	OMIM:603671
HP:0007376	Abnormal choroid plexus morphology	26040	SETBP1	ORPHA:798
HP:0007376	Abnormal choroid plexus morphology	26227	PHGDH	OMIM:256520
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	OMIM:612462
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	OMIM:103580
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	ORPHA:79443
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	ORPHA:79444
HP:0007376	Abnormal choroid plexus morphology	1075	CTSC	OMIM:245000
HP:0007376	Abnormal choroid plexus morphology	7157	TP53	OMIM:202300
HP:0007376	Abnormal choroid plexus morphology	7157	TP53	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	6598	SMARCB1	OMIM:609322
HP:0007376	Abnormal choroid plexus morphology	1029	CDKN2A	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	4193	MDM2	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	11200	CHEK2	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	4893	NRAS	OMIM:249400
HP:0007377	Abnormality of somatosensory evoked potentials	10501	SEMA6B	OMIM:618876
HP:0007377	Abnormality of somatosensory evoked potentials	378884	NHLRC1	ORPHA:501
HP:0007377	Abnormality of somatosensory evoked potentials	7957	EPM2A	ORPHA:501
HP:0007377	Abnormality of somatosensory evoked potentials	401474	SAMD12	OMIM:601068
HP:0007377	Abnormality of somatosensory evoked potentials	55689	YEATS2	OMIM:615127
HP:0007377	Abnormality of somatosensory evoked potentials	56910	STARD7	OMIM:607876
HP:0007377	Abnormality of somatosensory evoked potentials	10299	MARCHF6	OMIM:613608
HP:0007377	Abnormality of somatosensory evoked potentials	57465	TBC1D24	OMIM:608105
HP:0007377	Abnormality of somatosensory evoked potentials	57465	TBC1D24	ORPHA:163727
HP:0007377	Abnormality of somatosensory evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0007377	Abnormality of somatosensory evoked potentials	5631	PRPS1	ORPHA:1187
HP:0007377	Abnormality of somatosensory evoked potentials	5354	PLP1	ORPHA:280219
HP:0007377	Abnormality of somatosensory evoked potentials	4001	LMNB1	ORPHA:99027
HP:0007377	Abnormality of somatosensory evoked potentials	57165	GJC2	ORPHA:320401
HP:0007377	Abnormality of somatosensory evoked potentials	6310	ATXN1	ORPHA:98755
HP:0007377	Abnormality of somatosensory evoked potentials	22880	MORC2	ORPHA:466768
HP:0007377	Abnormality of somatosensory evoked potentials	1593	CYP27A1	OMIM:213700
HP:0007377	Abnormality of somatosensory evoked potentials	7274	TTPA	OMIM:277460
HP:0007377	Abnormality of somatosensory evoked potentials	215	ABCD1	ORPHA:139399
HP:0007378	Neoplasm of the gastrointestinal tract	355	FAS	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	843	CASP10	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	10125	RASGRP1	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	695	BTK	OMIM:300755
HP:0007378	Neoplasm of the gastrointestinal tract	5265	SERPINA1	OMIM:613490
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231214
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231222
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231226
HP:0007378	Neoplasm of the gastrointestinal tract	83932	SPRTN	OMIM:616200
HP:0007378	Neoplasm of the gastrointestinal tract	9414	TJP2	OMIM:615878
HP:0007378	Neoplasm of the gastrointestinal tract	4072	EPCAM	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	22909	FAN1	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	2153	F5	OMIM:600880
HP:0007378	Neoplasm of the gastrointestinal tract	3717	JAK2	OMIM:600880
HP:0007378	Neoplasm of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	23534	TNPO3	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	3592	IL12A	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	3663	IRF5	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	182	JAG1	OMIM:118450
HP:0007378	Neoplasm of the gastrointestinal tract	6514	SLC2A2	ORPHA:2088
HP:0007378	Neoplasm of the gastrointestinal tract	3145	HMBS	OMIM:176000
HP:0007378	Neoplasm of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0007378	Neoplasm of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0007378	Neoplasm of the gastrointestinal tract	10165	SLC25A13	OMIM:603471
HP:0007378	Neoplasm of the gastrointestinal tract	10165	SLC25A13	ORPHA:247585
HP:0007378	Neoplasm of the gastrointestinal tract	8647	ABCB11	OMIM:601847
HP:0007378	Neoplasm of the gastrointestinal tract	2538	G6PC1	OMIM:232200
HP:0007378	Neoplasm of the gastrointestinal tract	4358	MPV17	OMIM:256810
HP:0007378	Neoplasm of the gastrointestinal tract	654	BMP6	ORPHA:465508
HP:0007378	Neoplasm of the gastrointestinal tract	3077	HFE	ORPHA:465508
HP:0007378	Neoplasm of the gastrointestinal tract	3077	HFE	OMIM:176100
HP:0007378	Neoplasm of the gastrointestinal tract	3077	HFE	OMIM:235200
HP:0007378	Neoplasm of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0007378	Neoplasm of the gastrointestinal tract	2184	FAH	ORPHA:882
HP:0007378	Neoplasm of the gastrointestinal tract	3481	IGF2	OMIM:180860
HP:0007378	Neoplasm of the gastrointestinal tract	5836	PYGL	ORPHA:369
HP:0007378	Neoplasm of the gastrointestinal tract	191	AHCY	ORPHA:88618
HP:0007378	Neoplasm of the gastrointestinal tract	4233	MET	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	8312	AXIN1	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	841	CASP8	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	3482	IGF2R	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	55340	GIMAP5	OMIM:619463
HP:0007378	Neoplasm of the gastrointestinal tract	7289	TULP3	OMIM:619902
HP:0007378	Neoplasm of the gastrointestinal tract	1371	CPOX	ORPHA:79273
HP:0007378	Neoplasm of the gastrointestinal tract	7389	UROD	OMIM:176100
HP:0007378	Neoplasm of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0007378	Neoplasm of the gastrointestinal tract	650	BMP2	OMIM:235200
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	ORPHA:97279
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	OMIM:131100
HP:0007378	Neoplasm of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	1027	CDKN1B	ORPHA:276152
HP:0007378	Neoplasm of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	63895	PIEZO2	OMIM:248700
HP:0007378	Neoplasm of the gastrointestinal tract	1616	DAXX	ORPHA:100075
HP:0007378	Neoplasm of the gastrointestinal tract	546	ATRX	ORPHA:100075
HP:0007378	Neoplasm of the gastrointestinal tract	2642	GCGR	ORPHA:438274
HP:0007378	Neoplasm of the gastrointestinal tract	7528	YY1	ORPHA:97279
HP:0007378	Neoplasm of the gastrointestinal tract	7486	WRN	ORPHA:902
HP:0007378	Neoplasm of the gastrointestinal tract	2239	GPC4	ORPHA:373
HP:0007378	Neoplasm of the gastrointestinal tract	2239	GPC4	OMIM:312870
HP:0007378	Neoplasm of the gastrointestinal tract	1028	CDKN1C	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	10984	KCNQ1OT1	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	3784	KCNQ1	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0007378	Neoplasm of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0007378	Neoplasm of the gastrointestinal tract	6597	SMARCA4	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6598	SMARCB1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6659	SOX4	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	8289	ARID1A	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	5977	DPF2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6601	SMARCC2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6602	SMARCD1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	57492	ARID1B	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	196528	ARID2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6605	SMARCE1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6664	SOX11	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	26040	SETBP1	OMIM:269150
HP:0007378	Neoplasm of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0007378	Neoplasm of the gastrointestinal tract	388015	RTL1	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	8788	DLK1	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	55384	MEG3	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	6609	SMPD1	ORPHA:77293
HP:0007378	Neoplasm of the gastrointestinal tract	5244	ABCB4	ORPHA:69663
HP:0007378	Neoplasm of the gastrointestinal tract	65998	ZFTA	ORPHA:251636
HP:0007378	Neoplasm of the gastrointestinal tract	5970	RELA	ORPHA:251636
HP:0007378	Neoplasm of the gastrointestinal tract	4665	NAB2	ORPHA:2126
HP:0007378	Neoplasm of the gastrointestinal tract	6778	STAT6	ORPHA:2126
HP:0007378	Neoplasm of the gastrointestinal tract	56623	INPP5E	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	91147	TMEM67	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	23322	RPGRIP1L	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	57545	CC2D2A	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	3845	KRAS	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	79728	PALB2	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	5978	REST	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	129563	DIS3L2	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	9319	TRIP13	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	7490	WT1	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	10155	TRIM28	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	11281	POU6F2	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	2719	GPC3	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	283120	H19	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	30011	SH3KBP1	OMIM:300310
HP:0007378	Neoplasm of the gastrointestinal tract	716	C1S	OMIM:617174
HP:0007378	Neoplasm of the gastrointestinal tract	4092	SMAD7	OMIM:612229
HP:0007378	Neoplasm of the gastrointestinal tract	6223	RPS19	OMIM:105650
HP:0007378	Neoplasm of the gastrointestinal tract	9184	BUB3	ORPHA:1052
HP:0007378	Neoplasm of the gastrointestinal tract	9702	CEP57	ORPHA:1052
HP:0007378	Neoplasm of the gastrointestinal tract	2304	FOXE1	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	3026	HABP2	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	9562	MINPP1	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	11277	TREX1	OMIM:225750
HP:0007378	Neoplasm of the gastrointestinal tract	5727	PTCH1	OMIM:109400
HP:0007378	Neoplasm of the gastrointestinal tract	4913	NTHL1	ORPHA:454840
HP:0007378	Neoplasm of the gastrointestinal tract	4913	NTHL1	OMIM:616415
HP:0007378	Neoplasm of the gastrointestinal tract	8930	MBD4	OMIM:619975
HP:0007378	Neoplasm of the gastrointestinal tract	2475	MTOR	ORPHA:457485
HP:0007378	Neoplasm of the gastrointestinal tract	4292	MLH1	ORPHA:587
HP:0007378	Neoplasm of the gastrointestinal tract	2956	MSH6	ORPHA:587
HP:0007378	Neoplasm of the gastrointestinal tract	4436	MSH2	ORPHA:587
HP:0007378	Neoplasm of the gastrointestinal tract	6714	SRC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	10395	DLC1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	11200	CHEK2	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5290	PIK3CA	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	2033	EP300	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5782	PTPN12	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5320	PLA2G2A	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	6790	AURKA	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	27030	MLH3	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	581	BAX	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	25788	RAD54B	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	595	CCND1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	699	BUB1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	701	BUB1B	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	2261	FGFR3	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	7097	TLR2	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	4893	NRAS	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	1499	CTNNB1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	7157	TP53	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	4163	MCC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	207	AKT1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5157	PDGFRL	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5795	PTPRJ	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	673	BRAF	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	8314	BAP1	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4286	MITF	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	1019	CDK4	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4255	MGMT	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	54386	TERF2IP	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4157	MC1R	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	65057	ACD	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	1029	CDKN2A	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	7015	TERT	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	25913	POT1	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	1030	CDKN2B	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	5573	PRKAR1A	ORPHA:1359
HP:0007378	Neoplasm of the gastrointestinal tract	50940	PDE11A	ORPHA:1359
HP:0007378	Neoplasm of the gastrointestinal tract	81704	DOCK8	ORPHA:217390
HP:0007378	Neoplasm of the gastrointestinal tract	79651	RHBDF2	OMIM:148500
HP:0007378	Neoplasm of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	51008	ASCC1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	6772	STAT1	ORPHA:391487
HP:0007378	Neoplasm of the gastrointestinal tract	10043	TOM1	ORPHA:391487
HP:0007378	Neoplasm of the gastrointestinal tract	6049	RNF6	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	6049	RNF6	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	7048	TGFBR2	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	7048	TGFBR2	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	51741	WWOX	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	51741	WWOX	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	9940	DLEC1	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	11178	LZTS1	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	1630	DCC	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	3767	KCNJ11	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	8462	KLF11	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	2645	GCK	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	26060	APPL1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	640	BLK	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	1056	CEL	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	4760	NEUROD1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	3651	PDX1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6833	ABCC8	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	5078	PAX4	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	3172	HNF4A	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6927	HNF1A	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6927	HNF1A	OMIM:142330
HP:0007378	Neoplasm of the gastrointestinal tract	3630	INS	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	2778	GNAS	ORPHA:562
HP:0007378	Neoplasm of the gastrointestinal tract	5257	PHKB	ORPHA:79240
HP:0007378	Neoplasm of the gastrointestinal tract	2542	SLC37A4	ORPHA:79259
HP:0007378	Neoplasm of the gastrointestinal tract	5256	PHKA2	ORPHA:264580
HP:0007378	Neoplasm of the gastrointestinal tract	5261	PHKG2	ORPHA:264580
HP:0007378	Neoplasm of the gastrointestinal tract	999	CDH1	OMIM:137215
HP:0007378	Neoplasm of the gastrointestinal tract	3553	IL1B	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	3557	IL1RN	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	3659	IRF1	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	2064	ERBB2	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	1316	KLF6	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	2263	FGFR2	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0007378	Neoplasm of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0007378	Neoplasm of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0007378	Neoplasm of the gastrointestinal tract	5314	PKHD1	ORPHA:53035
HP:0007378	Neoplasm of the gastrointestinal tract	4595	MUTYH	ORPHA:247798
HP:0007378	Neoplasm of the gastrointestinal tract	201163	FLCN	OMIM:135150
HP:0007378	Neoplasm of the gastrointestinal tract	657	BMPR1A	ORPHA:329971
HP:0007378	Neoplasm of the gastrointestinal tract	4089	SMAD4	ORPHA:329971
HP:0007378	Neoplasm of the gastrointestinal tract	2022	ENG	ORPHA:329971
HP:0007378	Neoplasm of the gastrointestinal tract	5892	RAD51D	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	10111	RAD50	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	580	BARD1	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	5888	RAD51	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	4683	NBN	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	5889	RAD51C	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	83990	BRIP1	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	4361	MRE11	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	56983	POGLUT1	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	3852	KRT5	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	23509	POFUT1	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	55851	PSENEN	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	1387	CREBBP	OMIM:180849
HP:0007378	Neoplasm of the gastrointestinal tract	7428	VHL	OMIM:193300
HP:0007378	Neoplasm of the gastrointestinal tract	324	APC	OMIM:619182
HP:0007378	Neoplasm of the gastrointestinal tract	8313	AXIN2	OMIM:608615
HP:0007378	Neoplasm of the gastrointestinal tract	4437	MSH3	OMIM:617100
HP:0007378	Neoplasm of the gastrointestinal tract	6135	RPL11	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6138	RPL15	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6229	RPS24	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6125	RPL5	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6204	RPS10	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6165	RPL35A	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	2623	GATA1	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6232	RPS27	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6231	RPS26	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	11224	RPL35	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6160	RPL31	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6218	RPS17	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6201	RPS7	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6155	RPL27	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6154	RPL26	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6210	RPS15A	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	90121	TSR2	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6141	RPL18	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6235	RPS29	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6234	RPS28	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	51816	ADA2	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	8915	BCL10	OMIM:137245
HP:0007378	Neoplasm of the gastrointestinal tract	161742	SPRED1	ORPHA:137605
HP:0007378	Neoplasm of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0007378	Neoplasm of the gastrointestinal tract	672	BRCA1	ORPHA:70567
HP:0007378	Neoplasm of the gastrointestinal tract	675	BRCA2	ORPHA:70567
HP:0007378	Neoplasm of the gastrointestinal tract	5774	PTPN3	ORPHA:70567
HP:0007378	Neoplasm of the gastrointestinal tract	6794	STK11	ORPHA:2869
HP:0007378	Neoplasm of the gastrointestinal tract	54894	RNF43	ORPHA:157798
HP:0007378	Neoplasm of the gastrointestinal tract	410	ARSA	ORPHA:309271
HP:0007378	Neoplasm of the gastrointestinal tract	5660	PSAP	ORPHA:309271
HP:0007378	Neoplasm of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	6925	TCF4	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	5885	RAD21	OMIM:611376
HP:0007378	Neoplasm of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0007378	Neoplasm of the gastrointestinal tract	2271	FH	ORPHA:523
HP:0007378	Neoplasm of the gastrointestinal tract	5156	PDGFRA	OMIM:175510
HP:0007378	Neoplasm of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	23495	TNFRSF13B	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	4790	NFKB1	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	4791	NFKB2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	115650	TNFRSF13C	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	1380	CR2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	8742	TNFSF12	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	5580	PRKCD	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	930	CD19	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	29851	ICOS	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	931	MS4A1	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	975	CD81	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	359948	IRF2BP2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	OMIM:606764
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	ORPHA:97286
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	OMIM:115310
HP:0007378	Neoplasm of the gastrointestinal tract	6391	SDHC	OMIM:606764
HP:0007378	Neoplasm of the gastrointestinal tract	6391	SDHC	ORPHA:97286
HP:0007378	Neoplasm of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	3815	KIT	OMIM:606764
HP:0007378	Neoplasm of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	6392	SDHD	ORPHA:97286
HP:0007378	Neoplasm of the gastrointestinal tract	4763	NF1	ORPHA:97685
HP:0007378	Neoplasm of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0007378	Neoplasm of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0007378	Neoplasm of the gastrointestinal tract	7373	COL14A1	ORPHA:79501
HP:0007378	Neoplasm of the gastrointestinal tract	79719	AAGAB	ORPHA:79501
HP:0007378	Neoplasm of the gastrointestinal tract	4000	LMNA	ORPHA:79474
HP:0007378	Neoplasm of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0007378	Neoplasm of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0007378	Neoplasm of the gastrointestinal tract	215	ABCD1	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	5979	RET	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	2668	GDNF	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	6608	SMO	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	1889	ECE1	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	6720	SREBF1	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	1908	EDN3	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	223117	SEMA3D	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	538	ATP7A	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	1910	EDNRB	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	10512	SEMA3C	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	2065	ERBB3	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	4902	NRTN	ORPHA:388
HP:0007378	Neoplasm of the gastrointestinal tract	10483	SEC23B	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	5728	PTEN	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	205717	USF3	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	100144748	KLLN	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	5426	POLE	OMIM:615083
HP:0007378	Neoplasm of the gastrointestinal tract	5426	POLE	ORPHA:447877
HP:0007378	Neoplasm of the gastrointestinal tract	5424	POLD1	OMIM:612591
HP:0007378	Neoplasm of the gastrointestinal tract	5424	POLD1	ORPHA:447877
HP:0007378	Neoplasm of the gastrointestinal tract	9817	KEAP1	ORPHA:276399
HP:0007378	Neoplasm of the gastrointestinal tract	23405	DICER1	ORPHA:276399
HP:0007378	Neoplasm of the gastrointestinal tract	4193	MDM2	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	4437	MSH3	ORPHA:480536
HP:0007379	Neoplasm of the genitourinary tract	4437	MSH3	OMIM:617100
HP:0007379	Neoplasm of the genitourinary tract	11281	POU6F2	OMIM:601583
HP:0007379	Neoplasm of the genitourinary tract	11281	POU6F2	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	716	C1S	OMIM:617174
HP:0007379	Neoplasm of the genitourinary tract	9158	FIBP	ORPHA:500095
HP:0007379	Neoplasm of the genitourinary tract	9158	FIBP	OMIM:617107
HP:0007379	Neoplasm of the genitourinary tract	9759	HDAC4	ORPHA:1001
HP:0007379	Neoplasm of the genitourinary tract	5978	REST	OMIM:616806
HP:0007379	Neoplasm of the genitourinary tract	5978	REST	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	ORPHA:347
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	ORPHA:220
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	OMIM:256370
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	OMIM:194080
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	OMIM:194072
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	2132	EXT2	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	60529	ALX4	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	51317	PHF21A	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	675	BRCA2	OMIM:613029
HP:0007379	Neoplasm of the genitourinary tract	675	BRCA2	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	675	BRCA2	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	79728	PALB2	OMIM:610832
HP:0007379	Neoplasm of the genitourinary tract	10155	TRIM28	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	ORPHA:373
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	OMIM:312870
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:180860
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	10984	KCNQ1OT1	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	ORPHA:373
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	OMIM:312870
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	1028	CDKN1C	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	3784	KCNQ1	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	5727	PTCH1	ORPHA:77301
HP:0007379	Neoplasm of the genitourinary tract	641	BLM	ORPHA:125
HP:0007379	Neoplasm of the genitourinary tract	171023	ASXL1	ORPHA:97297
HP:0007379	Neoplasm of the genitourinary tract	4591	TRIM37	OMIM:253250
HP:0007379	Neoplasm of the genitourinary tract	6662	SOX9	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	6845	VAMP7	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	51741	WWOX	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	4214	MAP3K1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	2516	NR5A1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	58524	DMRT3	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	57647	DHX37	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	6736	SRY	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	23414	ZFPM2	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	190	NR0B1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	2626	GATA4	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	161742	SPRED1	ORPHA:137605
HP:0007379	Neoplasm of the genitourinary tract	5080	PAX6	OMIM:194072
HP:0007379	Neoplasm of the genitourinary tract	538	ATP7A	OMIM:304150
HP:0007379	Neoplasm of the genitourinary tract	54894	RNF43	ORPHA:157798
HP:0007379	Neoplasm of the genitourinary tract	10483	SEC23B	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	OMIM:115310
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6392	SDHD	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6392	SDHD	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6391	SDHC	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6391	SDHC	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	205717	USF3	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	7030	TFE3	OMIM:300854
HP:0007379	Neoplasm of the genitourinary tract	3458	IFNG	OMIM:613254
HP:0007379	Neoplasm of the genitourinary tract	3458	IFNG	ORPHA:805
HP:0007379	Neoplasm of the genitourinary tract	79798	ARMC5	ORPHA:189427
HP:0007379	Neoplasm of the genitourinary tract	2778	GNAS	ORPHA:189427
HP:0007379	Neoplasm of the genitourinary tract	8314	BAP1	OMIM:614327
HP:0007379	Neoplasm of the genitourinary tract	1743	DLST	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4191	MDH2	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	5979	RET	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6389	SDHA	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	23095	KIF1B	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	8402	SLC25A11	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	54949	SDHAF2	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	55654	TMEM127	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4763	NF1	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4149	MAX	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4968	OGG1	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	11236	RNF139	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	55193	PBRM1	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	6927	HNF1A	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	9817	KEAP1	ORPHA:276399
HP:0007379	Neoplasm of the genitourinary tract	7373	COL14A1	ORPHA:79501
HP:0007379	Neoplasm of the genitourinary tract	79719	AAGAB	ORPHA:79501
HP:0007379	Neoplasm of the genitourinary tract	79577	CDC73	OMIM:145001
HP:0007379	Neoplasm of the genitourinary tract	6714	SRC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	201163	FLCN	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	10395	DLC1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	8313	AXIN2	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5290	PIK3CA	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5290	PIK3CA	OMIM:615108
HP:0007379	Neoplasm of the genitourinary tract	2033	EP300	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5782	PTPN12	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5320	PLA2G2A	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	6790	AURKA	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	1630	DCC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	27030	MLH3	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	581	BAX	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	25788	RAD54B	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	595	CCND1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	7097	TLR2	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	4893	NRAS	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	324	APC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	1499	CTNNB1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	4163	MCC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	207	AKT1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	207	AKT1	OMIM:615109
HP:0007379	Neoplasm of the genitourinary tract	5157	PDGFRL	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5795	PTPRJ	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	673	BRAF	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5728	PTEN	OMIM:158350
HP:0007379	Neoplasm of the genitourinary tract	3845	KRAS	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	5925	RB1	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	3265	HRAS	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	6135	RPL11	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6138	RPL15	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6229	RPS24	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6125	RPL5	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6204	RPS10	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6165	RPL35A	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	2623	GATA1	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6223	RPS19	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6232	RPS27	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6231	RPS26	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	11224	RPL35	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6160	RPL31	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6218	RPS17	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6201	RPS7	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6155	RPL27	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6154	RPL26	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6210	RPS15A	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	90121	TSR2	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6141	RPL18	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6235	RPS29	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6234	RPS28	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	51816	ADA2	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	3026	HABP2	ORPHA:319487
HP:0007379	Neoplasm of the genitourinary tract	9562	MINPP1	ORPHA:319487
HP:0007379	Neoplasm of the genitourinary tract	4233	MET	OMIM:605074
HP:0007379	Neoplasm of the genitourinary tract	5546	PRCC	OMIM:605074
HP:0007379	Neoplasm of the genitourinary tract	64127	NOD2	ORPHA:90340
HP:0007379	Neoplasm of the genitourinary tract	4598	MVK	OMIM:260920
HP:0007379	Neoplasm of the genitourinary tract	129563	DIS3L2	OMIM:267000
HP:0007379	Neoplasm of the genitourinary tract	168667	BMPER	OMIM:608022
HP:0007379	Neoplasm of the genitourinary tract	1387	CREBBP	OMIM:180849
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	ORPHA:892
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	OMIM:193300
HP:0007379	Neoplasm of the genitourinary tract	6928	HNF1B	ORPHA:93111
HP:0007379	Neoplasm of the genitourinary tract	4913	NTHL1	OMIM:616415
HP:0007379	Neoplasm of the genitourinary tract	4913	NTHL1	ORPHA:454840
HP:0007379	Neoplasm of the genitourinary tract	126792	B3GALT6	ORPHA:536467
HP:0007379	Neoplasm of the genitourinary tract	25913	POT1	OMIM:616568
HP:0007379	Neoplasm of the genitourinary tract	100144748	KLLN	OMIM:615107
HP:0007379	Neoplasm of the genitourinary tract	7248	TSC1	ORPHA:538
HP:0007379	Neoplasm of the genitourinary tract	7249	TSC2	ORPHA:538
HP:0007379	Neoplasm of the genitourinary tract	4000	LMNA	ORPHA:79474
HP:0007379	Neoplasm of the genitourinary tract	7486	WRN	ORPHA:902
HP:0007379	Neoplasm of the genitourinary tract	2313	FLI1	ORPHA:370348
HP:0007379	Neoplasm of the genitourinary tract	5573	PRKAR1A	ORPHA:1359
HP:0007379	Neoplasm of the genitourinary tract	50940	PDE11A	ORPHA:1359
HP:0007379	Neoplasm of the genitourinary tract	64218	SEMA4A	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	657	BMPR1A	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	6224	RPS20	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	4072	EPCAM	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	4292	MLH1	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	5395	PMS2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	22909	FAN1	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	7048	TGFBR2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	2956	MSH6	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	5378	PMS1	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	4436	MSH2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	284058	KANSL1	ORPHA:363965
HP:0007379	Neoplasm of the genitourinary tract	284058	KANSL1	ORPHA:363958
HP:0007379	Neoplasm of the genitourinary tract	2130	EWSR1	ORPHA:83469
HP:0007379	Neoplasm of the genitourinary tract	5566	PRKACA	ORPHA:189439
HP:0007379	Neoplasm of the genitourinary tract	8622	PDE8B	ORPHA:189439
HP:0007379	Neoplasm of the genitourinary tract	412	STS	OMIM:308100
HP:0007379	Neoplasm of the genitourinary tract	367	AR	ORPHA:99429
HP:0007379	Neoplasm of the genitourinary tract	388662	SLC6A17	ORPHA:457212
HP:0007379	Neoplasm of the genitourinary tract	5424	POLD1	OMIM:612591
HP:0007379	Neoplasm of the genitourinary tract	5424	POLD1	ORPHA:447877
HP:0007379	Neoplasm of the genitourinary tract	5426	POLE	ORPHA:447877
HP:0007379	Neoplasm of the genitourinary tract	2048	EPHB2	OMIM:603688
HP:0007379	Neoplasm of the genitourinary tract	463	ZFHX3	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	1316	KLF6	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	999	CDH1	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	4601	MXI1	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	8379	MAD1L1	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	6041	RNASEL	OMIM:601518
HP:0007379	Neoplasm of the genitourinary tract	26585	GREM1	ORPHA:157794
HP:0007379	Neoplasm of the genitourinary tract	285282	RABL3	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	4089	SMAD4	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	23022	PALLD	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	56246	MRAP	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	6770	STAR	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	4158	MC2R	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	23530	NNT	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	10587	TXNRD2	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	1584	CYP11B1	ORPHA:90795
HP:0007379	Neoplasm of the genitourinary tract	7852	CXCR4	ORPHA:51636
HP:0007379	Neoplasm of the genitourinary tract	1027	CDKN1B	ORPHA:276152
HP:0007379	Neoplasm of the genitourinary tract	81704	DOCK8	ORPHA:217390
HP:0007379	Neoplasm of the genitourinary tract	3110	MNX1	ORPHA:1552
HP:0007379	Neoplasm of the genitourinary tract	26040	SETBP1	OMIM:269150
HP:0007379	Neoplasm of the genitourinary tract	26040	SETBP1	ORPHA:798
HP:0007379	Neoplasm of the genitourinary tract	64324	NSD1	ORPHA:821
HP:0007379	Neoplasm of the genitourinary tract	29072	SETD2	ORPHA:821
HP:0007379	Neoplasm of the genitourinary tract	10297	APC2	ORPHA:821
HP:0007379	Neoplasm of the genitourinary tract	23405	DICER1	OMIM:180295
HP:0007379	Neoplasm of the genitourinary tract	8930	MBD4	OMIM:619975
HP:0007379	Neoplasm of the genitourinary tract	2624	GATA2	OMIM:614172
HP:0007379	Neoplasm of the genitourinary tract	6597	SMARCA4	OMIM:613325
HP:0007379	Neoplasm of the genitourinary tract	55612	FERMT1	ORPHA:2908
HP:0007379	Neoplasm of the genitourinary tract	2263	FGFR2	ORPHA:87
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	OMIM:604370
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	OMIM:617883
HP:0007379	Neoplasm of the genitourinary tract	5892	RAD51D	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	10111	RAD50	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	580	BARD1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	5888	RAD51	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	4683	NBN	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	5889	RAD51C	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	83990	BRIP1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	4361	MRE11	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	80326	WNT10A	ORPHA:50944
HP:0007379	Neoplasm of the genitourinary tract	2304	FOXE1	OMIM:616534
HP:0007379	Neoplasm of the genitourinary tract	65998	ZFTA	ORPHA:251636
HP:0007379	Neoplasm of the genitourinary tract	5970	RELA	ORPHA:251636
HP:0007379	Neoplasm of the genitourinary tract	3418	IDH2	ORPHA:163634
HP:0007379	Neoplasm of the genitourinary tract	3417	IDH1	ORPHA:163634
HP:0007379	Neoplasm of the genitourinary tract	10734	STAG3	OMIM:615723
HP:0007379	Neoplasm of the genitourinary tract	5071	PRKN	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	4978	OPCML	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	2064	ERBB2	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	50846	DHH	OMIM:233420
HP:0007379	Neoplasm of the genitourinary tract	4665	NAB2	ORPHA:2126
HP:0007379	Neoplasm of the genitourinary tract	6778	STAT6	ORPHA:2126
HP:0007379	Neoplasm of the genitourinary tract	9184	BUB3	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	699	BUB1	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	9702	CEP57	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	9319	TRIP13	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	701	BUB1B	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	2271	FH	ORPHA:523
HP:0007379	Neoplasm of the genitourinary tract	1288	COL4A6	ORPHA:1018
HP:0007379	Neoplasm of the genitourinary tract	1287	COL4A5	ORPHA:1018
HP:0007379	Neoplasm of the genitourinary tract	7157	TP53	OMIM:151623
HP:0007379	Neoplasm of the genitourinary tract	7157	TP53	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	1029	CDKN2A	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	4193	MDM2	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	11200	CHEK2	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	6794	STK11	OMIM:273300
HP:0007379	Neoplasm of the genitourinary tract	8915	BCL10	OMIM:273300
HP:0007379	Neoplasm of the genitourinary tract	3815	KIT	OMIM:273300
HP:0007379	Neoplasm of the genitourinary tract	2261	FGFR3	OMIM:273300
HP:0033222	Decreased CD4:CD8 ratio	2624	GATA2	OMIM:614038
HP:0033222	Decreased CD4:CD8 ratio	1503	CTPS1	OMIM:615897
HP:0033222	Decreased CD4:CD8 ratio	841	CASP8	OMIM:607271
HP:0033222	Decreased CD4:CD8 ratio	7454	WAS	OMIM:300299
HP:0033222	Decreased CD4:CD8 ratio	84061	MAGT1	OMIM:300853
HP:0033222	Decreased CD4:CD8 ratio	3559	IL2RA	OMIM:606367
HP:0033222	Decreased CD4:CD8 ratio	9094	UNC119	OMIM:615518
HP:0033222	Decreased CD4:CD8 ratio	8546	AP3B1	OMIM:608233
HP:0033222	Decreased CD4:CD8 ratio	50619	DEF6	OMIM:619573
HP:0033222	Decreased CD4:CD8 ratio	3560	IL2RB	OMIM:618495
HP:0033221	Increased CD4:CD8 ratio	7535	ZAP70	OMIM:617006
HP:0033221	Increased CD4:CD8 ratio	51371	POMP	OMIM:618048
HP:0033229	Brachioradialis areflexia	81570	CLPB	OMIM:616271
HP:0007380	Facial telangiectasia	54345	SOX18	OMIM:137940
HP:0007380	Facial telangiectasia	641	BLM	OMIM:210900
HP:0007380	Facial telangiectasia	94	ACVRL1	OMIM:600376
HP:0007380	Facial telangiectasia	170302	ARX	ORPHA:94083
HP:0007380	Facial telangiectasia	55315	SLC29A3	OMIM:602782
HP:0007380	Facial telangiectasia	55315	SLC29A3	ORPHA:168569
HP:0007380	Facial telangiectasia	1616	DAXX	ORPHA:100075
HP:0007380	Facial telangiectasia	546	ATRX	ORPHA:100075
HP:0007380	Facial telangiectasia	80326	WNT10A	ORPHA:50944
HP:0007380	Facial telangiectasia	55275	VPS53	OMIM:615851
HP:0007380	Facial telangiectasia	545	ATR	OMIM:614564
HP:0007380	Facial telangiectasia	6392	SDHD	ORPHA:100093
HP:0007380	Facial telangiectasia	10093	ARPC4	OMIM:620141
HP:0007380	Facial telangiectasia	79158	GNPTAB	ORPHA:576
HP:0007380	Facial telangiectasia	5426	POLE	OMIM:615139
HP:0007380	Facial telangiectasia	831	CAST	OMIM:616295
HP:0007380	Facial telangiectasia	81031	SLC2A10	OMIM:208050
HP:0007381	Congenital exfoliative erythroderma	404672	GTF2H5	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	833	CARS1	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2068	ERCC2	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	7737	RNF113A	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	136647	MPLKIP	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	6897	TARS1	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2071	ERCC3	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2961	GTF2E2	ORPHA:33364
HP:0007556	Plantar hyperkeratosis	5317	PKP1	OMIM:604536
HP:0007556	Plantar hyperkeratosis	7051	TGM1	OMIM:242300
HP:0007556	Plantar hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0007556	Plantar hyperkeratosis	3858	KRT10	OMIM:607602
HP:0007556	Plantar hyperkeratosis	3858	KRT10	OMIM:609165
HP:0007556	Plantar hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0007556	Plantar hyperkeratosis	55651	NHP2	OMIM:224230
HP:0007556	Plantar hyperkeratosis	55505	NOP10	OMIM:224230
HP:0007556	Plantar hyperkeratosis	1075	CTSC	OMIM:170650
HP:0007556	Plantar hyperkeratosis	1075	CTSC	OMIM:245000
HP:0007556	Plantar hyperkeratosis	1075	CTSC	ORPHA:678
HP:0007556	Plantar hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0007556	Plantar hyperkeratosis	121391	KRT74	OMIM:194300
HP:0007556	Plantar hyperkeratosis	3868	KRT16	OMIM:167200
HP:0007556	Plantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0007556	Plantar hyperkeratosis	3848	KRT1	OMIM:620148
HP:0007556	Plantar hyperkeratosis	3848	KRT1	OMIM:113800
HP:0007556	Plantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0007556	Plantar hyperkeratosis	3248	HPGD	OMIM:259100
HP:0007556	Plantar hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0007556	Plantar hyperkeratosis	10804	GJB6	ORPHA:189
HP:0007556	Plantar hyperkeratosis	10804	GJB6	OMIM:129500
HP:0007556	Plantar hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0007556	Plantar hyperkeratosis	5728	PTEN	OMIM:158350
HP:0007556	Plantar hyperkeratosis	57511	COG6	ORPHA:363523
HP:0007556	Plantar hyperkeratosis	57511	COG6	OMIM:615328
HP:0007556	Plantar hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0007556	Plantar hyperkeratosis	10651	MTX2	OMIM:619127
HP:0007556	Plantar hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0007556	Plantar hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0007556	Plantar hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0007556	Plantar hyperkeratosis	64065	PERP	OMIM:619209
HP:0007556	Plantar hyperkeratosis	64065	PERP	OMIM:619208
HP:0007556	Plantar hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0007556	Plantar hyperkeratosis	3872	KRT17	OMIM:167210
HP:0007556	Plantar hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0007556	Plantar hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0007556	Plantar hyperkeratosis	7015	TERT	OMIM:613989
HP:0007556	Plantar hyperkeratosis	3889	KRT83	OMIM:617756
HP:0007556	Plantar hyperkeratosis	9487	PIGL	OMIM:280000
HP:0007556	Plantar hyperkeratosis	1828	DSG1	OMIM:148700
HP:0007556	Plantar hyperkeratosis	9896	FIG4	OMIM:216340
HP:0007556	Plantar hyperkeratosis	7286	TUFT1	OMIM:607655
HP:0007556	Plantar hyperkeratosis	5290	PIK3CA	OMIM:615108
HP:0007556	Plantar hyperkeratosis	207	AKT1	OMIM:615109
HP:0007556	Plantar hyperkeratosis	667	DST	OMIM:615425
HP:0007556	Plantar hyperkeratosis	9015	TAF1A	ORPHA:154
HP:0007556	Plantar hyperkeratosis	5663	PSEN1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	6389	SDHA	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7112	TMPO	ORPHA:154
HP:0007556	Plantar hyperkeratosis	9464	HAND2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	4625	MYH7	ORPHA:154
HP:0007556	Plantar hyperkeratosis	88	ACTN2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	10486	CAP2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	10060	ABCC9	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7168	TPM1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7414	VCL	ORPHA:154
HP:0007556	Plantar hyperkeratosis	70	ACTC1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	27063	ANKRD1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	8048	CSRP3	ORPHA:154
HP:0007556	Plantar hyperkeratosis	1410	CRYAB	ORPHA:154
HP:0007556	Plantar hyperkeratosis	4000	LMNA	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7139	TNNT2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	1829	DSG2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	3910	LAMA4	ORPHA:154
HP:0007556	Plantar hyperkeratosis	63976	PRDM16	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7273	TTN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	10587	TXNRD2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	9531	BAG3	ORPHA:154
HP:0007556	Plantar hyperkeratosis	5350	PLN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	91624	NEXN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	79717	PPCS	ORPHA:154
HP:0007556	Plantar hyperkeratosis	5664	PSEN2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	4624	MYH6	ORPHA:154
HP:0007556	Plantar hyperkeratosis	9529	BAG5	ORPHA:154
HP:0007556	Plantar hyperkeratosis	4607	MYBPC3	ORPHA:154
HP:0007556	Plantar hyperkeratosis	282996	RBM20	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7137	TNNI3	ORPHA:154
HP:0007556	Plantar hyperkeratosis	11155	LDB3	ORPHA:154
HP:0007556	Plantar hyperkeratosis	2274	FHL2	ORPHA:154
HP:0007556	Plantar hyperkeratosis	6901	TAFAZZIN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	22845	DOLK	ORPHA:154
HP:0007556	Plantar hyperkeratosis	5894	RAF1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	1756	DMD	ORPHA:154
HP:0007556	Plantar hyperkeratosis	57798	GATAD1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	7134	TNNC1	ORPHA:154
HP:0007556	Plantar hyperkeratosis	84665	MYPN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	1674	DES	ORPHA:154
HP:0007556	Plantar hyperkeratosis	6444	SGCD	ORPHA:154
HP:0007556	Plantar hyperkeratosis	6331	SCN5A	ORPHA:154
HP:0007556	Plantar hyperkeratosis	2218	FKTN	ORPHA:154
HP:0007556	Plantar hyperkeratosis	8557	TCAP	ORPHA:154
HP:0007556	Plantar hyperkeratosis	79092	CARD14	OMIM:173200
HP:0007556	Plantar hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0007556	Plantar hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0007556	Plantar hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0007556	Plantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0007556	Plantar hyperkeratosis	3728	JUP	ORPHA:34217
HP:0007556	Plantar hyperkeratosis	3728	JUP	OMIM:611528
HP:0007556	Plantar hyperkeratosis	162	AP1B1	OMIM:242150
HP:0007556	Plantar hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0007556	Plantar hyperkeratosis	1824	DSC2	OMIM:610476
HP:0007556	Plantar hyperkeratosis	8626	TP63	OMIM:106260
HP:0007556	Plantar hyperkeratosis	8626	TP63	OMIM:129400
HP:0007556	Plantar hyperkeratosis	3849	KRT2	ORPHA:455
HP:0007556	Plantar hyperkeratosis	284654	RSPO1	ORPHA:85112
HP:0007556	Plantar hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0007556	Plantar hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	673	BRAF	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0007556	Plantar hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0007556	Plantar hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	6898	TAT	ORPHA:28378
HP:0007556	Plantar hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6390	SDHB	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6392	SDHD	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6391	SDHC	ORPHA:201
HP:0007556	Plantar hyperkeratosis	205717	USF3	ORPHA:201
HP:0007556	Plantar hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0007556	Plantar hyperkeratosis	1475	CSTA	OMIM:607936
HP:0007556	Plantar hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0007556	Plantar hyperkeratosis	285848	PNPLA1	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	23328	SASH1	OMIM:618373
HP:0007556	Plantar hyperkeratosis	1474	CST6	OMIM:618535
HP:0007556	Plantar hyperkeratosis	412	STS	OMIM:308100
HP:0007556	Plantar hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0007556	Plantar hyperkeratosis	3854	KRT6B	OMIM:615728
HP:0007556	Plantar hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0007556	Plantar hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0007556	Plantar hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0007556	Plantar hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0007556	Plantar hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	5184	PEPD	ORPHA:742
HP:0007556	Plantar hyperkeratosis	25959	KANK2	OMIM:616099
HP:0007556	Plantar hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0007556	Plantar hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0007556	Plantar hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	940	CD28	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0007556	Plantar hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0007556	Plantar hyperkeratosis	79651	RHBDF2	ORPHA:2198
HP:0007556	Plantar hyperkeratosis	23592	LEMD3	ORPHA:1306
HP:0007556	Plantar hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0007556	Plantar hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0007556	Plantar hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	7012	TERC	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	5073	PARN	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	162514	TRPV3	OMIM:616400
HP:0007556	Plantar hyperkeratosis	1832	DSP	ORPHA:65282
HP:0007556	Plantar hyperkeratosis	2697	GJA1	ORPHA:317
HP:0007556	Plantar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0007556	Plantar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0007556	Plantar hyperkeratosis	2531	KDSR	ORPHA:317
HP:0007556	Plantar hyperkeratosis	127534	GJB4	ORPHA:317
HP:0007556	Plantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0007556	Plantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0007556	Plantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0007556	Plantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0007556	Plantar hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0007556	Plantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0007556	Plantar hyperkeratosis	2706	GJB2	OMIM:124500
HP:0007556	Plantar hyperkeratosis	2706	GJB2	ORPHA:494
HP:0007556	Plantar hyperkeratosis	51371	POMP	OMIM:601952
HP:0007556	Plantar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0007556	Plantar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0007556	Plantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0007556	Plantar hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0007556	Plantar hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0007556	Plantar hyperkeratosis	831	CAST	OMIM:616295
HP:0007556	Plantar hyperkeratosis	79719	AAGAB	OMIM:148600
HP:0007556	Plantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0007556	Plantar hyperkeratosis	56916	SMARCAD1	OMIM:181600
HP:0007556	Plantar hyperkeratosis	57152	SLURP1	OMIM:248300
HP:0007556	Plantar hyperkeratosis	5339	PLEC	OMIM:616487
HP:0007556	Plantar hyperkeratosis	3914	LAMB3	OMIM:226650
HP:0007556	Plantar hyperkeratosis	9401	RECQL4	ORPHA:221016
HP:0007556	Plantar hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0007556	Plantar hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0007556	Plantar hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0007556	Plantar hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0007556	Plantar hyperkeratosis	8086	AAAS	ORPHA:869
HP:0007556	Plantar hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0007556	Plantar hyperkeratosis	3857	KRT9	OMIM:144200
HP:0007556	Plantar hyperkeratosis	79650	USB1	OMIM:604173
HP:0007556	Plantar hyperkeratosis	64682	ANAPC1	ORPHA:221008
HP:0007383	Congenital localized absence of skin	9790	BMS1	ORPHA:1114
HP:0007383	Congenital localized absence of skin	5339	PLEC	ORPHA:1114
HP:0007383	Congenital localized absence of skin	10054	UBA2	ORPHA:1114
HP:0007383	Congenital localized absence of skin	3691	ITGB4	ORPHA:1114
HP:0007383	Congenital localized absence of skin	54567	DLL4	ORPHA:1114
HP:0007383	Congenital localized absence of skin	1294	COL7A1	OMIM:132000
HP:0007383	Congenital localized absence of skin	3914	LAMB3	OMIM:226700
HP:0007383	Congenital localized absence of skin	3909	LAMA3	OMIM:226700
HP:0007383	Congenital localized absence of skin	3918	LAMC2	OMIM:226700
HP:0007384	Aberrant melanosome maturation	8546	AP3B1	OMIM:608233
HP:0007387	Hypoplastic sweat glands	126695	KDF1	OMIM:617337
HP:0033231	Abnormal glomerular mesangial cellularity	1314	COPA	OMIM:616414
HP:0033231	Abnormal glomerular mesangial cellularity	348	APOE	OMIM:611771
HP:0033231	Abnormal glomerular mesangial cellularity	10253	SPRY2	OMIM:616818
HP:0033231	Abnormal glomerular mesangial cellularity	55243	KIRREL1	OMIM:619201
HP:0033231	Abnormal glomerular mesangial cellularity	8879	SGPL1	OMIM:617575
HP:0033231	Abnormal glomerular mesangial cellularity	81494	CFHR5	OMIM:614809
HP:0033232	Abnormal glomerular mesangial matrix morphology	81494	CFHR5	OMIM:614809
HP:0033235	Difficulty descending stairs	2548	GAA	OMIM:232300
HP:0007390	Hyperkeratosis with erythema	57152	SLURP1	ORPHA:86923
HP:0007390	Hyperkeratosis with erythema	145264	SERPINA12	ORPHA:86923
HP:0007392	Excessive wrinkled skin	6595	SMARCA2	OMIM:601358
HP:0007392	Excessive wrinkled skin	6595	SMARCA2	ORPHA:3051
HP:0007392	Excessive wrinkled skin	91949	COG7	OMIM:608779
HP:0007392	Excessive wrinkled skin	91949	COG7	ORPHA:79333
HP:0007392	Excessive wrinkled skin	1281	COL3A1	ORPHA:286
HP:0007392	Excessive wrinkled skin	1281	COL3A1	ORPHA:2500
HP:0007392	Excessive wrinkled skin	5295	PIK3R1	ORPHA:3163
HP:0007392	Excessive wrinkled skin	8367	H4C5	OMIM:619950
HP:0007392	Excessive wrinkled skin	523	ATP6V1A	ORPHA:357074
HP:0007392	Excessive wrinkled skin	529	ATP6V1E1	ORPHA:357074
HP:0007392	Excessive wrinkled skin	5831	PYCR1	OMIM:612940
HP:0007392	Excessive wrinkled skin	5831	PYCR1	OMIM:614438
HP:0007392	Excessive wrinkled skin	5604	MAP2K1	ORPHA:1340
HP:0007392	Excessive wrinkled skin	5605	MAP2K2	ORPHA:1340
HP:0007392	Excessive wrinkled skin	3845	KRAS	ORPHA:1340
HP:0007392	Excessive wrinkled skin	673	BRAF	ORPHA:1340
HP:0007392	Excessive wrinkled skin	673	BRAF	ORPHA:500
HP:0007392	Excessive wrinkled skin	5167	ENPP1	ORPHA:758
HP:0007392	Excessive wrinkled skin	368	ABCC6	ORPHA:758
HP:0007392	Excessive wrinkled skin	9719	ADAMTSL2	ORPHA:1901
HP:0007392	Excessive wrinkled skin	9509	ADAMTS2	ORPHA:1901
HP:0007392	Excessive wrinkled skin	51750	RTEL1	ORPHA:3322
HP:0007392	Excessive wrinkled skin	65057	ACD	ORPHA:3322
HP:0007392	Excessive wrinkled skin	5073	PARN	ORPHA:3322
HP:0007392	Excessive wrinkled skin	7015	TERT	ORPHA:3322
HP:0007392	Excessive wrinkled skin	26277	TINF2	ORPHA:3322
HP:0007392	Excessive wrinkled skin	1736	DKC1	ORPHA:3322
HP:0007392	Excessive wrinkled skin	5781	PTPN11	ORPHA:500
HP:0007392	Excessive wrinkled skin	5894	RAF1	ORPHA:500
HP:0007392	Excessive wrinkled skin	5728	PTEN	ORPHA:137608
HP:0007392	Excessive wrinkled skin	117581	TWIST2	ORPHA:920
HP:0007392	Excessive wrinkled skin	23545	ATP6V0A2	ORPHA:2834
HP:0007392	Excessive wrinkled skin	1080	CFTR	ORPHA:498359
HP:0007392	Excessive wrinkled skin	715	C1R	OMIM:130080
HP:0007392	Excessive wrinkled skin	2261	FGFR3	OMIM:616482
HP:0007392	Excessive wrinkled skin	22808	MRAS	OMIM:618499
HP:0007392	Excessive wrinkled skin	5351	PLOD1	OMIM:225400
HP:0007392	Excessive wrinkled skin	8216	LZTR1	OMIM:616564
HP:0007392	Excessive wrinkled skin	8216	LZTR1	OMIM:605275
HP:0007392	Excessive wrinkled skin	84627	ZNF469	OMIM:229200
HP:0007392	Excessive wrinkled skin	6016	RIT1	OMIM:615355
HP:0007392	Excessive wrinkled skin	2263	FGFR2	OMIM:123790
HP:0007392	Excessive wrinkled skin	9333	TGM5	ORPHA:263534
HP:0007392	Excessive wrinkled skin	1475	CSTA	ORPHA:263534
HP:0007392	Excessive wrinkled skin	79718	TBL1XR1	ORPHA:487825
HP:0007394	Prominent superficial blood vessels	5295	PIK3R1	OMIM:269880
HP:0007394	Prominent superficial blood vessels	716	C1S	OMIM:617174
HP:0007394	Prominent superficial blood vessels	29957	SLC25A24	OMIM:612289
HP:0007394	Prominent superficial blood vessels	92579	G6PC3	OMIM:612541
HP:0007394	Prominent superficial blood vessels	8815	BANF1	OMIM:614008
HP:0007394	Prominent superficial blood vessels	5831	PYCR1	OMIM:612940
HP:0007394	Prominent superficial blood vessels	5831	PYCR1	OMIM:614438
HP:0007394	Prominent superficial blood vessels	10555	AGPAT2	ORPHA:528
HP:0007394	Prominent superficial blood vessels	284119	CAVIN1	ORPHA:528
HP:0007394	Prominent superficial blood vessels	26580	BSCL2	ORPHA:528
HP:0007394	Prominent superficial blood vessels	2353	FOS	ORPHA:528
HP:0007394	Prominent superficial blood vessels	857	CAV1	ORPHA:528
HP:0007394	Prominent superficial blood vessels	25839	COG4	OMIM:618150
HP:0007394	Prominent superficial blood vessels	715	C1R	OMIM:130080
HP:0007394	Prominent superficial blood vessels	221496	LEMD2	OMIM:619322
HP:0007394	Prominent superficial blood vessels	5159	PDGFRB	OMIM:601812
HP:0007394	Prominent superficial blood vessels	2324	FLT4	OMIM:153100
HP:0007394	Prominent superficial blood vessels	91252	SLC39A13	OMIM:612350
HP:0007394	Prominent superficial blood vessels	84919	PPP1R15B	OMIM:616817
HP:0007394	Prominent superficial blood vessels	7424	VEGFC	OMIM:615907
HP:0007394	Prominent superficial blood vessels	84168	ANTXR1	OMIM:230740
HP:0007394	Prominent superficial blood vessels	9791	PTDSS1	OMIM:151050
HP:0007394	Prominent superficial blood vessels	11128	POLR3A	OMIM:264090
HP:0007394	Prominent superficial blood vessels	11128	POLR3A	ORPHA:3455
HP:0007394	Prominent superficial blood vessels	4000	LMNA	ORPHA:740
HP:0007394	Prominent superficial blood vessels	10269	ZMPSTE24	ORPHA:740
HP:0007394	Prominent superficial blood vessels	10269	ZMPSTE24	OMIM:275210
HP:0007394	Prominent superficial blood vessels	5921	RASA1	ORPHA:90307
HP:0007394	Prominent superficial blood vessels	5832	ALDH18A1	OMIM:219150
HP:0007394	Prominent superficial blood vessels	10526	IPO8	OMIM:619472
HP:0007394	Prominent superficial blood vessels	23545	ATP6V0A2	ORPHA:2834
HP:0007394	Prominent superficial blood vessels	23545	ATP6V0A2	ORPHA:357074
HP:0007394	Prominent superficial blood vessels	5468	PPARG	ORPHA:79083
HP:0007394	Prominent superficial blood vessels	165	AEBP1	ORPHA:536532
HP:0007394	Prominent superficial blood vessels	523	ATP6V1A	ORPHA:357074
HP:0007394	Prominent superficial blood vessels	529	ATP6V1E1	ORPHA:357074
HP:0007394	Prominent superficial blood vessels	2859	GPR35	ORPHA:171
HP:0007394	Prominent superficial blood vessels	10507	SEMA4D	ORPHA:171
HP:0007394	Prominent superficial blood vessels	4485	MST1	ORPHA:171
HP:0007394	Prominent superficial blood vessels	6925	TCF4	ORPHA:171
HP:0007397	Axillary apocrine gland hypoplasia	6926	TBX3	OMIM:181450
HP:0007398	Asymmetric, linear skin defects	1349	COX7B	OMIM:300887
HP:0007398	Asymmetric, linear skin defects	1349	COX7B	OMIM:309801
HP:0007398	Asymmetric, linear skin defects	3052	HCCS	OMIM:309801
HP:0007398	Asymmetric, linear skin defects	54539	NDUFB11	OMIM:309801
HP:0007398	Asymmetric, linear skin defects	54539	NDUFB11	OMIM:300952
HP:0033245	Abnormal alveolar type II pneumocyte morphology	6440	SFTPC	OMIM:610913
HP:0033250	Nailfold capillary tortuosity	284	ANGPT1	OMIM:619361
HP:0033250	Nailfold capillary tortuosity	340061	STING1	OMIM:615934
HP:0033250	Nailfold capillary tortuosity	26509	MYOF	OMIM:619366
HP:0033252	Palmar hyperlinearity	242	ALOX12B	OMIM:242100
HP:0033252	Palmar hyperlinearity	59344	ALOXE3	OMIM:242100
HP:0033252	Palmar hyperlinearity	59344	ALOXE3	OMIM:606545
HP:0033252	Palmar hyperlinearity	126410	CYP4F22	OMIM:604777
HP:0033252	Palmar hyperlinearity	126695	KDF1	OMIM:617337
HP:0033252	Palmar hyperlinearity	412	STS	OMIM:308100
HP:0033252	Palmar hyperlinearity	204219	CERS3	OMIM:615023
HP:0033252	Palmar hyperlinearity	2312	FLG	OMIM:146700
HP:0033253	Reduced circulating interferon gamma concentration	5422	POLA1	OMIM:301220
HP:0033255	Congenital lobar overinflation	4212	MEIS2	OMIM:600987
HP:0033256	Pancolitis	3588	IL10RB	OMIM:612567
HP:0033256	Pancolitis	64858	DCLRE1B	OMIM:620133
HP:0033256	Pancolitis	7040	TGFB1	OMIM:618213
HP:0033256	Pancolitis	22900	CARD8	OMIM:619079
HP:0033258	Sudden unexpected death in epilepsy	10815	CPLX1	OMIM:617976
HP:0033258	Sudden unexpected death in epilepsy	6334	SCN8A	OMIM:614558
HP:0033258	Sudden unexpected death in epilepsy	6323	SCN1A	OMIM:619317
HP:0033258	Sudden unexpected death in epilepsy	55164	SHQ1	OMIM:619922
HP:0033258	Sudden unexpected death in epilepsy	57465	TBC1D24	OMIM:615338
HP:0033258	Sudden unexpected death in epilepsy	60558	GUF1	OMIM:617065
HP:0033258	Sudden unexpected death in epilepsy	9896	FIG4	OMIM:612691
HP:0033258	Sudden unexpected death in epilepsy	55148	UBR7	OMIM:619189
HP:0033259	Non-motor seizure	84706	GPT2	OMIM:616281
HP:0033259	Non-motor seizure	4524	MTHFR	ORPHA:395
HP:0033259	Non-motor seizure	4791	NFKB2	ORPHA:293978
HP:0033259	Non-motor seizure	26960	NBEA	OMIM:619157
HP:0033259	Non-motor seizure	340533	NEXMIF	OMIM:300912
HP:0033259	Non-motor seizure	340533	NEXMIF	ORPHA:1942
HP:0033259	Non-motor seizure	57468	SLC12A5	OMIM:616685
HP:0033259	Non-motor seizure	348980	HCN1	OMIM:615871
HP:0033259	Non-motor seizure	348980	HCN1	OMIM:618482
HP:0033259	Non-motor seizure	348980	HCN1	ORPHA:36387
HP:0033259	Non-motor seizure	8733	GPAA1	OMIM:617810
HP:0033259	Non-motor seizure	114327	EFHC1	OMIM:254770
HP:0033259	Non-motor seizure	114327	EFHC1	ORPHA:307
HP:0033259	Non-motor seizure	114327	EFHC1	OMIM:607631
HP:0033259	Non-motor seizure	114327	EFHC1	ORPHA:1941
HP:0033259	Non-motor seizure	11133	KPTN	OMIM:615637
HP:0033259	Non-motor seizure	781	CACNA2D1	OMIM:620149
HP:0033259	Non-motor seizure	2563	GABRD	ORPHA:307
HP:0033259	Non-motor seizure	2563	GABRD	OMIM:613060
HP:0033259	Non-motor seizure	2563	GABRD	ORPHA:36387
HP:0033259	Non-motor seizure	1181	CLCN2	ORPHA:307
HP:0033259	Non-motor seizure	1181	CLCN2	OMIM:607628
HP:0033259	Non-motor seizure	3786	KCNQ3	ORPHA:307
HP:0033259	Non-motor seizure	3786	KCNQ3	ORPHA:306
HP:0033259	Non-motor seizure	22858	CILK1	ORPHA:307
HP:0033259	Non-motor seizure	22858	CILK1	OMIM:617924
HP:0033259	Non-motor seizure	8629	JRK	ORPHA:307
HP:0033259	Non-motor seizure	6334	SCN8A	ORPHA:306
HP:0033259	Non-motor seizure	6334	SCN8A	OMIM:614558
HP:0033259	Non-motor seizure	112476	PRRT2	ORPHA:306
HP:0033259	Non-motor seizure	112476	PRRT2	ORPHA:98811
HP:0033259	Non-motor seizure	3785	KCNQ2	ORPHA:306
HP:0033259	Non-motor seizure	79813	EHMT1	ORPHA:96147
HP:0033259	Non-motor seizure	64324	NSD1	ORPHA:821
HP:0033259	Non-motor seizure	29072	SETD2	ORPHA:821
HP:0033259	Non-motor seizure	10297	APC2	ORPHA:821
HP:0033259	Non-motor seizure	80232	WDR26	ORPHA:513456
HP:0033259	Non-motor seizure	54344	DPM3	OMIM:618992
HP:0033259	Non-motor seizure	5515	PPP2CA	OMIM:618354
HP:0033259	Non-motor seizure	24137	KIF4A	OMIM:300923
HP:0033259	Non-motor seizure	6096	RORB	OMIM:618357
HP:0033259	Non-motor seizure	112755	STX1B	OMIM:616172
HP:0033259	Non-motor seizure	112755	STX1B	ORPHA:36387
HP:0033259	Non-motor seizure	478	ATP1A3	OMIM:619606
HP:0033259	Non-motor seizure	2782	GNB1	OMIM:616973
HP:0033259	Non-motor seizure	7532	YWHAG	OMIM:617665
HP:0033259	Non-motor seizure	80055	PGAP1	OMIM:615802
HP:0033259	Non-motor seizure	1476	CSTB	OMIM:254800
HP:0033259	Non-motor seizure	55768	NGLY1	ORPHA:404454
HP:0033259	Non-motor seizure	3908	LAMA2	ORPHA:258
HP:0033259	Non-motor seizure	347733	TUBB2B	ORPHA:467166
HP:0033259	Non-motor seizure	7846	TUBA1A	ORPHA:467166
HP:0033259	Non-motor seizure	10381	TUBB3	ORPHA:467166
HP:0033259	Non-motor seizure	6609	SMPD1	ORPHA:77293
HP:0033259	Non-motor seizure	3899	AFF3	OMIM:619297
HP:0033259	Non-motor seizure	80224	NUBPL	OMIM:618242
HP:0033259	Non-motor seizure	79029	AFG2B	OMIM:619616
HP:0033259	Non-motor seizure	116150	NUS1	OMIM:617831
HP:0033259	Non-motor seizure	815	CAMK2A	OMIM:617798
HP:0033259	Non-motor seizure	2664	GDI1	OMIM:300849
HP:0033259	Non-motor seizure	2770	GNAI1	OMIM:619854
HP:0033259	Non-motor seizure	27315	PGAP2	OMIM:614207
HP:0033259	Non-motor seizure	84188	FAR1	OMIM:619338
HP:0033259	Non-motor seizure	1183	CLCN4	ORPHA:485350
HP:0033259	Non-motor seizure	9570	GOSR2	OMIM:620166
HP:0033259	Non-motor seizure	9570	GOSR2	OMIM:614018
HP:0033259	Non-motor seizure	23327	NEDD4L	OMIM:617201
HP:0033259	Non-motor seizure	23152	CIC	OMIM:617600
HP:0033259	Non-motor seizure	4915	NTRK2	OMIM:613886
HP:0033259	Non-motor seizure	1954	MEGF8	OMIM:614976
HP:0033259	Non-motor seizure	6304	SATB1	OMIM:619229
HP:0033259	Non-motor seizure	26227	PHGDH	ORPHA:79351
HP:0033259	Non-motor seizure	6513	SLC2A1	ORPHA:98811
HP:0033259	Non-motor seizure	6513	SLC2A1	ORPHA:1942
HP:0033259	Non-motor seizure	84059	ADGRV1	ORPHA:36387
HP:0033259	Non-motor seizure	7915	ALDH5A1	OMIM:271980
HP:0033259	Non-motor seizure	2746	GLUD1	ORPHA:35878
HP:0033259	Non-motor seizure	51604	PIGT	OMIM:615398
HP:0033259	Non-motor seizure	51604	PIGT	ORPHA:369837
HP:0033259	Non-motor seizure	5063	PAK3	OMIM:300558
HP:0033259	Non-motor seizure	3747	KCNC2	OMIM:619913
HP:0033259	Non-motor seizure	23443	SLC35A3	OMIM:615553
HP:0033259	Non-motor seizure	23443	SLC35A3	ORPHA:370943
HP:0033259	Non-motor seizure	23040	MYT1L	OMIM:616521
HP:0033259	Non-motor seizure	85440	DOCK7	ORPHA:411986
HP:0033259	Non-motor seizure	80036	TRPM3	OMIM:620224
HP:0033259	Non-motor seizure	57459	GATAD2B	ORPHA:363686
HP:0033259	Non-motor seizure	6595	SMARCA2	ORPHA:3051
HP:0033259	Non-motor seizure	55210	ATAD3A	OMIM:617183
HP:0033259	Non-motor seizure	10472	ZBTB18	OMIM:612337
HP:0033259	Non-motor seizure	23031	MAST3	OMIM:620115
HP:0033259	Non-motor seizure	2556	GABRA3	OMIM:301091
HP:0033259	Non-motor seizure	6529	SLC6A1	OMIM:616421
HP:0033259	Non-motor seizure	6529	SLC6A1	ORPHA:1942
HP:0033259	Non-motor seizure	6651	SON	ORPHA:500150
HP:0033259	Non-motor seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0033259	Non-motor seizure	2146	EZH2	OMIM:277590
HP:0033259	Non-motor seizure	1719	DHFR	OMIM:613839
HP:0033259	Non-motor seizure	8831	SYNGAP1	ORPHA:1942
HP:0033259	Non-motor seizure	54936	ADPRS	OMIM:618170
HP:0033259	Non-motor seizure	4204	MECP2	OMIM:300260
HP:0033259	Non-motor seizure	1893	ECM1	OMIM:247100
HP:0033259	Non-motor seizure	8621	CDK13	OMIM:617360
HP:0033259	Non-motor seizure	93183	PIGM	OMIM:610293
HP:0033259	Non-motor seizure	93587	TRMT10A	OMIM:616033
HP:0033259	Non-motor seizure	2702	GJA5	OMIM:612474
HP:0033259	Non-motor seizure	2703	GJA8	OMIM:612474
HP:0033259	Non-motor seizure	6792	CDKL5	ORPHA:1934
HP:0033259	Non-motor seizure	3736	KCNA1	ORPHA:1934
HP:0033259	Non-motor seizure	9091	PIGQ	ORPHA:1934
HP:0033259	Non-motor seizure	2775	GNAO1	ORPHA:1934
HP:0033259	Non-motor seizure	2902	GRIN1	ORPHA:1934
HP:0033259	Non-motor seizure	79751	SLC25A22	ORPHA:1934
HP:0033259	Non-motor seizure	150094	SIK1	ORPHA:1934
HP:0033259	Non-motor seizure	8573	CASK	ORPHA:1934
HP:0033259	Non-motor seizure	23312	DMXL2	ORPHA:1934
HP:0033259	Non-motor seizure	2917	GRM7	ORPHA:1934
HP:0033259	Non-motor seizure	170302	ARX	ORPHA:1934
HP:0033259	Non-motor seizure	11284	PNKP	ORPHA:1934
HP:0033259	Non-motor seizure	51227	PIGP	ORPHA:1934
HP:0033259	Non-motor seizure	4761	NEUROD2	ORPHA:1934
HP:0033259	Non-motor seizure	57526	PCDH19	ORPHA:101039
HP:0033259	Non-motor seizure	57526	PCDH19	ORPHA:33069
HP:0033259	Non-motor seizure	7337	UBE3A	ORPHA:98795
HP:0033259	Non-motor seizure	3192	HNRNPU	OMIM:617391
HP:0033259	Non-motor seizure	6324	SCN1B	OMIM:617350
HP:0033259	Non-motor seizure	6324	SCN1B	ORPHA:33069
HP:0033259	Non-motor seizure	1173	AP2M1	OMIM:618587
HP:0033259	Non-motor seizure	2562	GABRB3	OMIM:617113
HP:0033259	Non-motor seizure	2562	GABRB3	ORPHA:2382
HP:0033259	Non-motor seizure	343450	KCNT2	OMIM:617771
HP:0033259	Non-motor seizure	5530	PPP3CA	OMIM:617711
HP:0033259	Non-motor seizure	1759	DNM1	OMIM:616346
HP:0033259	Non-motor seizure	1759	DNM1	ORPHA:2382
HP:0033259	Non-motor seizure	23334	SZT2	OMIM:615476
HP:0033259	Non-motor seizure	785	CACNB4	OMIM:613855
HP:0033259	Non-motor seizure	785	CACNB4	OMIM:607682
HP:0033259	Non-motor seizure	81570	CLPB	OMIM:619835
HP:0033259	Non-motor seizure	23732	FRRS1L	ORPHA:725
HP:0033259	Non-motor seizure	2903	GRIN2A	ORPHA:725
HP:0033259	Non-motor seizure	2903	GRIN2A	ORPHA:1945
HP:0033259	Non-motor seizure	2903	GRIN2A	ORPHA:98818
HP:0033259	Non-motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0033259	Non-motor seizure	27286	SRPX2	ORPHA:1945
HP:0033259	Non-motor seizure	2566	GABRG2	ORPHA:1945
HP:0033259	Non-motor seizure	2566	GABRG2	ORPHA:33069
HP:0033259	Non-motor seizure	2566	GABRG2	OMIM:618396
HP:0033259	Non-motor seizure	6335	SCN9A	ORPHA:33069
HP:0033259	Non-motor seizure	6326	SCN2A	ORPHA:33069
HP:0033259	Non-motor seizure	2554	GABRA1	ORPHA:33069
HP:0033259	Non-motor seizure	6323	SCN1A	ORPHA:33069
HP:0033259	Non-motor seizure	6323	SCN1A	ORPHA:2382
HP:0033259	Non-motor seizure	378884	NHLRC1	ORPHA:501
HP:0033259	Non-motor seizure	7957	EPM2A	ORPHA:501
HP:0033259	Non-motor seizure	9839	ZEB2	ORPHA:261537
HP:0033259	Non-motor seizure	9839	ZEB2	ORPHA:261552
HP:0033259	Non-motor seizure	3778	KCNMA1	OMIM:618596
HP:0033259	Non-motor seizure	5602	MAPK10	ORPHA:2382
HP:0033259	Non-motor seizure	773	CACNA1A	ORPHA:2382
HP:0033259	Non-motor seizure	23316	CUX2	ORPHA:2382
HP:0033259	Non-motor seizure	1106	CHD2	ORPHA:2382
HP:0033259	Non-motor seizure	387119	CEP85L	OMIM:618873
HP:0033259	Non-motor seizure	3745	KCNB1	OMIM:616056
HP:0033259	Non-motor seizure	81603	TRIM8	OMIM:619428
HP:0033259	Non-motor seizure	6608	SMO	OMIM:241800
HP:0033259	Non-motor seizure	2737	GLI3	ORPHA:672
HP:0033259	Non-motor seizure	55690	PACS1	ORPHA:329224
HP:0033259	Non-motor seizure	10588	MTHFS	OMIM:618367
HP:0033259	Non-motor seizure	10991	SLC38A3	OMIM:619881
HP:0033259	Non-motor seizure	23314	SATB2	ORPHA:576283
HP:0033259	Non-motor seizure	3190	HNRNPK	ORPHA:453504
HP:0033259	Non-motor seizure	3190	HNRNPK	ORPHA:352665
HP:0033259	Non-motor seizure	7840	ALMS1	ORPHA:64
HP:0033259	Non-motor seizure	427	ASAH1	ORPHA:2590
HP:0033259	Non-motor seizure	8912	CACNA1H	ORPHA:64280
HP:0033259	Non-motor seizure	1281	COL3A1	OMIM:618343
HP:0033259	Non-motor seizure	1859	DYRK1A	ORPHA:268261
HP:0033259	Non-motor seizure	54496	PRMT7	OMIM:617157
HP:0033259	Non-motor seizure	23394	ADNP	OMIM:615873
HP:0033259	Non-motor seizure	23219	FBXO28	OMIM:619777
HP:0033259	Non-motor seizure	51322	WAC	ORPHA:466950
HP:0033259	Non-motor seizure	1917	EEF1A2	OMIM:616409
HP:0033259	Non-motor seizure	51343	FZR1	OMIM:620145
HP:0033259	Non-motor seizure	5728	PTEN	ORPHA:101070
HP:0033259	Non-motor seizure	79947	DHDDS	OMIM:617836
HP:0033259	Non-motor seizure	23067	SETD1B	OMIM:619000
HP:0033259	Non-motor seizure	8659	ALDH4A1	ORPHA:79101
HP:0033259	Non-motor seizure	8813	DPM1	ORPHA:79322
HP:0033259	Non-motor seizure	501	ALDH7A1	ORPHA:3006
HP:0033259	Non-motor seizure	11212	PLPBP	ORPHA:3006
HP:0033259	Non-motor seizure	57582	KCNT1	OMIM:614959
HP:0033259	Non-motor seizure	9289	ADGRG1	ORPHA:98889
HP:0033259	Non-motor seizure	5297	PI4KA	ORPHA:98889
HP:0033259	Non-motor seizure	477	ATP1A2	ORPHA:569
HP:0033259	Non-motor seizure	11277	TREX1	ORPHA:247691
HP:0033259	Non-motor seizure	6900	CNTN2	OMIM:615400
HP:0033259	Non-motor seizure	5138	PDE2A	ORPHA:31709
HP:0033259	Non-motor seizure	8131	NPRL3	ORPHA:98820
HP:0033259	Non-motor seizure	10641	NPRL2	ORPHA:98820
HP:0033259	Non-motor seizure	9681	DEPDC5	ORPHA:98820
HP:0033259	Non-motor seizure	51083	GAL	OMIM:616461
HP:0033259	Non-motor seizure	5649	RELN	OMIM:600512
HP:0033259	Non-motor seizure	64780	MICAL1	OMIM:600512
HP:0033259	Non-motor seizure	9211	LGI1	OMIM:600512
HP:0033260	Livedo racemosa	51816	ADA2	OMIM:615688
HP:0033260	Livedo racemosa	51816	ADA2	OMIM:182410
HP:0033261	Renal artery aneurysm	51816	ADA2	OMIM:615688
HP:0033263	Absent platelet dense granules	89781	HPS4	OMIM:614073
HP:0033263	Absent platelet dense granules	11234	HPS5	OMIM:614074
HP:0033263	Absent platelet dense granules	8546	AP3B1	OMIM:608233
HP:0033264	Enlarged platelet dense granules	8546	AP3B1	OMIM:608233
HP:0033278	Reduced CD95-induced lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0033279	Enterocutaneous fistula	3588	IL10RB	OMIM:612567
HP:0033280	Paratracheal lymphadenopathy	340061	STING1	OMIM:615934
HP:0033281	Circulating nucleated red blood cells	10661	KLF1	OMIM:613673
HP:0033282	Abnormal glomerular basement membrane morphology	3075	CFH	OMIM:609814
HP:0033282	Abnormal glomerular basement membrane morphology	100147744	RNU7-1	OMIM:619487
HP:0033282	Abnormal glomerular basement membrane morphology	9722	NOS1AP	OMIM:619155
HP:0033282	Abnormal glomerular basement membrane morphology	4010	LMX1B	ORPHA:2614
HP:0033282	Abnormal glomerular basement membrane morphology	2625	GATA3	OMIM:146255
HP:0033282	Abnormal glomerular basement membrane morphology	51134	CEP83	OMIM:615862
HP:0033282	Abnormal glomerular basement membrane morphology	8526	DGKE	OMIM:615008
HP:0033282	Abnormal glomerular basement membrane morphology	396	ARHGDIA	OMIM:615244
HP:0033282	Abnormal glomerular basement membrane morphology	1285	COL4A3	OMIM:203780
HP:0033282	Abnormal glomerular basement membrane morphology	1285	COL4A3	OMIM:104200
HP:0033282	Abnormal glomerular basement membrane morphology	1286	COL4A4	OMIM:203780
HP:0033282	Abnormal glomerular basement membrane morphology	1287	COL4A5	OMIM:301050
HP:0033282	Abnormal glomerular basement membrane morphology	977	CD151	OMIM:609057
HP:0033295	Mesangial Immune complex deposition	975	CD81	OMIM:613496
HP:0430000	Abnormal frontal bone morphology	2137	EXTL3	ORPHA:508533
HP:0430000	Abnormal frontal bone morphology	1718	DHCR24	OMIM:602398
HP:0430000	Abnormal frontal bone morphology	1718	DHCR24	ORPHA:35107
HP:0430000	Abnormal frontal bone morphology	1497	CTNS	OMIM:219800
HP:0430000	Abnormal frontal bone morphology	11253	MAN1B1	ORPHA:397941
HP:0430000	Abnormal frontal bone morphology	1139	CHRNA7	ORPHA:199318
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	OMIM:605309
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	ORPHA:109
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	ORPHA:79076
HP:0430000	Abnormal frontal bone morphology	83932	SPRTN	OMIM:616200
HP:0430000	Abnormal frontal bone morphology	3265	HRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	OMIM:609942
HP:0430000	Abnormal frontal bone morphology	4893	NRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	7291	TWIST1	OMIM:123100
HP:0430000	Abnormal frontal bone morphology	7291	TWIST1	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	1947	EFNB1	ORPHA:1520
HP:0430000	Abnormal frontal bone morphology	1947	EFNB1	OMIM:304110
HP:0430000	Abnormal frontal bone morphology	9820	CUL7	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	9820	CUL7	OMIM:273750
HP:0430000	Abnormal frontal bone morphology	23363	OBSL1	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	23363	OBSL1	OMIM:612921
HP:0430000	Abnormal frontal bone morphology	83987	CCDC8	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	83987	CCDC8	OMIM:614205
HP:0430000	Abnormal frontal bone morphology	7360	UGP2	OMIM:618744
HP:0430000	Abnormal frontal bone morphology	79848	CSPP1	ORPHA:397715
HP:0430000	Abnormal frontal bone morphology	9786	KIAA0586	ORPHA:397715
HP:0430000	Abnormal frontal bone morphology	267010	RNU12	OMIM:603116
HP:0430000	Abnormal frontal bone morphology	9578	CDC42BPB	OMIM:619841
HP:0430000	Abnormal frontal bone morphology	3020	H3-3A	OMIM:619720
HP:0430000	Abnormal frontal bone morphology	2737	GLI3	ORPHA:380
HP:0430000	Abnormal frontal bone morphology	2737	GLI3	OMIM:175700
HP:0430000	Abnormal frontal bone morphology	3021	H3-3B	OMIM:619721
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	OMIM:616331
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	OMIM:180700
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	8942	KYNU	OMIM:617661
HP:0430000	Abnormal frontal bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0430000	Abnormal frontal bone morphology	5830	PEX5	OMIM:202370
HP:0430000	Abnormal frontal bone morphology	2201	FBN2	OMIM:121050
HP:0430000	Abnormal frontal bone morphology	4286	MITF	OMIM:617306
HP:0430000	Abnormal frontal bone morphology	120227	CYP2R1	OMIM:600081
HP:0430000	Abnormal frontal bone morphology	120227	CYP2R1	ORPHA:289157
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	OMIM:613610
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	112752	IFT43	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	112752	IFT43	OMIM:614099
HP:0430000	Abnormal frontal bone morphology	51098	IFT52	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	55764	IFT122	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	55764	IFT122	OMIM:218330
HP:0430000	Abnormal frontal bone morphology	57728	WDR19	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	57728	WDR19	OMIM:614378
HP:0430000	Abnormal frontal bone morphology	57231	SNX14	ORPHA:397709
HP:0430000	Abnormal frontal bone morphology	50964	SOST	ORPHA:1513
HP:0430000	Abnormal frontal bone morphology	50964	SOST	OMIM:269500
HP:0430000	Abnormal frontal bone morphology	6660	SOX5	ORPHA:313892
HP:0430000	Abnormal frontal bone morphology	6660	SOX5	OMIM:616803
HP:0430000	Abnormal frontal bone morphology	1896	EDA	OMIM:305100
HP:0430000	Abnormal frontal bone morphology	1896	EDA	ORPHA:181
HP:0430000	Abnormal frontal bone morphology	54	ACP5	OMIM:607944
HP:0430000	Abnormal frontal bone morphology	1513	CTSK	OMIM:265800
HP:0430000	Abnormal frontal bone morphology	1513	CTSK	ORPHA:763
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:146000
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:1860
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:616482
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:15
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:93274
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:93262
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:100800
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:187601
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:187600
HP:0430000	Abnormal frontal bone morphology	64359	NXN	OMIM:618529
HP:0430000	Abnormal frontal bone morphology	64359	NXN	ORPHA:1507
HP:0430000	Abnormal frontal bone morphology	4920	ROR2	ORPHA:1507
HP:0430000	Abnormal frontal bone morphology	4920	ROR2	OMIM:268310
HP:0430000	Abnormal frontal bone morphology	5191	PEX7	OMIM:215100
HP:0430000	Abnormal frontal bone morphology	2035	EPB41	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	2995	GYPC	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	6710	SPTB	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	6708	SPTA1	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	10484	SEC23A	OMIM:607812
HP:0430000	Abnormal frontal bone morphology	10484	SEC23A	ORPHA:50814
HP:0430000	Abnormal frontal bone morphology	1105	CHD1	OMIM:617682
HP:0430000	Abnormal frontal bone morphology	1105	CHD1	ORPHA:529965
HP:0430000	Abnormal frontal bone morphology	10815	CPLX1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	54872	PIGG	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	7469	NELFA	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	1487	CTBP1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	1487	CTBP1	OMIM:617915
HP:0430000	Abnormal frontal bone morphology	3954	LETM1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	7468	NSD2	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	1656	DDX6	OMIM:618653
HP:0430000	Abnormal frontal bone morphology	1594	CYP27B1	OMIM:264700
HP:0430000	Abnormal frontal bone morphology	1594	CYP27B1	ORPHA:289157
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	OMIM:228520
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	ORPHA:440354
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	ORPHA:560
HP:0430000	Abnormal frontal bone morphology	80776	B9D2	OMIM:614175
HP:0430000	Abnormal frontal bone morphology	5813	PURA	ORPHA:438216
HP:0430000	Abnormal frontal bone morphology	2783	GNB2	OMIM:619503
HP:0430000	Abnormal frontal bone morphology	6602	SMARCD1	OMIM:618779
HP:0430000	Abnormal frontal bone morphology	55623	THUMPD1	OMIM:619989
HP:0430000	Abnormal frontal bone morphology	26038	CHD5	OMIM:619873
HP:0430000	Abnormal frontal bone morphology	5034	P4HB	OMIM:112240
HP:0430000	Abnormal frontal bone morphology	5034	P4HB	ORPHA:2050
HP:0430000	Abnormal frontal bone morphology	1182	CLCN3	OMIM:619512
HP:0430000	Abnormal frontal bone morphology	3043	HBB	ORPHA:231214
HP:0430000	Abnormal frontal bone morphology	3043	HBB	ORPHA:231226
HP:0430000	Abnormal frontal bone morphology	6905	TBCE	OMIM:241410
HP:0430000	Abnormal frontal bone morphology	3590	IL11RA	OMIM:614188
HP:0430000	Abnormal frontal bone morphology	142680	SLC34A3	OMIM:241530
HP:0430000	Abnormal frontal bone morphology	57167	SALL4	OMIM:147750
HP:0430000	Abnormal frontal bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0430000	Abnormal frontal bone morphology	7531	YWHAE	ORPHA:217385
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	OMIM:616489
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	OMIM:180860
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	92609	TIMM50	OMIM:617698
HP:0430000	Abnormal frontal bone morphology	3098	HK1	OMIM:618547
HP:0430000	Abnormal frontal bone morphology	5590	PRKCZ	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	2563	GABRD	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	23013	SPEN	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	23013	SPEN	OMIM:619312
HP:0430000	Abnormal frontal bone morphology	8510	MMP23B	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	7798	LUZP1	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	6497	SKI	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	6497	SKI	ORPHA:2462
HP:0430000	Abnormal frontal bone morphology	6497	SKI	OMIM:182212
HP:0430000	Abnormal frontal bone morphology	10630	PDPN	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	3339	HSPG2	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	10277	UBE4B	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	8514	KCNAB2	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	473	RERE	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	473	RERE	ORPHA:494344
HP:0430000	Abnormal frontal bone morphology	473	RERE	OMIM:616975
HP:0430000	Abnormal frontal bone morphology	63976	PRDM16	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	54897	CASZ1	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	OMIM:610828
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	OMIM:109400
HP:0430000	Abnormal frontal bone morphology	79796	ALG9	ORPHA:79328
HP:0430000	Abnormal frontal bone morphology	79796	ALG9	OMIM:608776
HP:0430000	Abnormal frontal bone morphology	8314	BAP1	OMIM:619762
HP:0430000	Abnormal frontal bone morphology	83479	DDX59	ORPHA:2919
HP:0430000	Abnormal frontal bone morphology	83479	DDX59	OMIM:174300
HP:0430000	Abnormal frontal bone morphology	6942	TCF20	OMIM:618430
HP:0430000	Abnormal frontal bone morphology	9968	MED12	OMIM:305450
HP:0430000	Abnormal frontal bone morphology	9968	MED12	OMIM:309520
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	OMIM:304120
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	ORPHA:2484
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	OMIM:311300
HP:0430000	Abnormal frontal bone morphology	2271	FH	OMIM:606812
HP:0430000	Abnormal frontal bone morphology	4488	MSX2	OMIM:604757
HP:0430000	Abnormal frontal bone morphology	8643	PTCH2	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	51684	SUFU	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	51684	SUFU	OMIM:617757
HP:0430000	Abnormal frontal bone morphology	23556	PIGN	OMIM:614080
HP:0430000	Abnormal frontal bone morphology	23007	PLCH1	OMIM:619895
HP:0430000	Abnormal frontal bone morphology	249	ALPL	OMIM:241510
HP:0430000	Abnormal frontal bone morphology	79989	IFT56	OMIM:619534
HP:0430000	Abnormal frontal bone morphology	84168	ANTXR1	OMIM:230740
HP:0430000	Abnormal frontal bone morphology	84168	ANTXR1	ORPHA:2067
HP:0430000	Abnormal frontal bone morphology	7994	KAT6A	OMIM:616268
HP:0430000	Abnormal frontal bone morphology	2720	GLB1	OMIM:230500
HP:0430000	Abnormal frontal bone morphology	2720	GLB1	ORPHA:79255
HP:0430000	Abnormal frontal bone morphology	3930	LBR	OMIM:169400
HP:0430000	Abnormal frontal bone morphology	3930	LBR	OMIM:618019
HP:0430000	Abnormal frontal bone morphology	1107	CHD3	OMIM:618205
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:272460
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:108721
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:108720
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:150250
HP:0430000	Abnormal frontal bone morphology	1749	DLX5	OMIM:220600
HP:0430000	Abnormal frontal bone morphology	27077	B9D1	OMIM:617120
HP:0430000	Abnormal frontal bone morphology	9742	IFT140	OMIM:266920
HP:0430000	Abnormal frontal bone morphology	60529	ALX4	ORPHA:228390
HP:0430000	Abnormal frontal bone morphology	60529	ALX4	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	26173	INTS1	OMIM:618571
HP:0430000	Abnormal frontal bone morphology	1523	CUX1	OMIM:618330
HP:0430000	Abnormal frontal bone morphology	5587	PRKD1	OMIM:617364
HP:0430000	Abnormal frontal bone morphology	5426	POLE	OMIM:618336
HP:0430000	Abnormal frontal bone morphology	5426	POLE	ORPHA:85173
HP:0430000	Abnormal frontal bone morphology	7227	TRPS1	ORPHA:77258
HP:0430000	Abnormal frontal bone morphology	4921	DDR2	OMIM:271665
HP:0430000	Abnormal frontal bone morphology	8925	HERC1	OMIM:617011
HP:0430000	Abnormal frontal bone morphology	54892	NCAPG2	OMIM:618460
HP:0430000	Abnormal frontal bone morphology	23314	SATB2	ORPHA:251028
HP:0430000	Abnormal frontal bone morphology	23314	SATB2	OMIM:612313
HP:0430000	Abnormal frontal bone morphology	51259	TMEM216	OMIM:608091
HP:0430000	Abnormal frontal bone morphology	51259	TMEM216	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	1277	COL1A1	OMIM:259420
HP:0430000	Abnormal frontal bone morphology	1278	COL1A2	OMIM:259420
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	OMIM:123500
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:207
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:87
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	OMIM:207410
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:1540
HP:0430000	Abnormal frontal bone morphology	7707	ZNF148	OMIM:617260
HP:0430000	Abnormal frontal bone morphology	29887	SNX10	OMIM:615085
HP:0430000	Abnormal frontal bone morphology	5515	PPP2CA	OMIM:618354
HP:0430000	Abnormal frontal bone morphology	1747	DLX3	OMIM:190320
HP:0430000	Abnormal frontal bone morphology	1747	DLX3	ORPHA:3352
HP:0430000	Abnormal frontal bone morphology	9871	SEC24D	OMIM:616294
HP:0430000	Abnormal frontal bone morphology	9871	SEC24D	ORPHA:2050
HP:0430000	Abnormal frontal bone morphology	29998	BICRA	OMIM:619325
HP:0430000	Abnormal frontal bone morphology	6651	SON	OMIM:617140
HP:0430000	Abnormal frontal bone morphology	6651	SON	ORPHA:500150
HP:0430000	Abnormal frontal bone morphology	4952	OCRL	ORPHA:534
HP:0430000	Abnormal frontal bone morphology	2710	GK	OMIM:307030
HP:0430000	Abnormal frontal bone morphology	9126	SMC3	OMIM:610759
HP:0430000	Abnormal frontal bone morphology	55777	MBD5	OMIM:156200
HP:0430000	Abnormal frontal bone morphology	4784	NFIX	OMIM:602535
HP:0430000	Abnormal frontal bone morphology	4784	NFIX	ORPHA:420179
HP:0430000	Abnormal frontal bone morphology	3039	HBA1	ORPHA:98791
HP:0430000	Abnormal frontal bone morphology	3040	HBA2	ORPHA:98791
HP:0430000	Abnormal frontal bone morphology	4998	ORC1	OMIM:224690
HP:0430000	Abnormal frontal bone morphology	4125	MAN2B1	OMIM:248500
HP:0430000	Abnormal frontal bone morphology	54496	PRMT7	OMIM:617157
HP:0430000	Abnormal frontal bone morphology	10082	GPC6	OMIM:258315
HP:0430000	Abnormal frontal bone morphology	10082	GPC6	ORPHA:93329
HP:0430000	Abnormal frontal bone morphology	5831	PYCR1	OMIM:612940
HP:0430000	Abnormal frontal bone morphology	2077	ERF	ORPHA:207
HP:0430000	Abnormal frontal bone morphology	2077	ERF	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	116442	RAB39B	OMIM:311510
HP:0430000	Abnormal frontal bone morphology	116442	RAB39B	ORPHA:2379
HP:0430000	Abnormal frontal bone morphology	7703	PCGF2	OMIM:618371
HP:0430000	Abnormal frontal bone morphology	23258	DENND5A	OMIM:617281
HP:0430000	Abnormal frontal bone morphology	9496	TBX4	ORPHA:261279
HP:0430000	Abnormal frontal bone morphology	8091	HMGA2	ORPHA:94063
HP:0430000	Abnormal frontal bone morphology	8091	HMGA2	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	23592	LEMD3	ORPHA:94063
HP:0430000	Abnormal frontal bone morphology	10013	HDAC6	OMIM:300863
HP:0430000	Abnormal frontal bone morphology	10013	HDAC6	ORPHA:163966
HP:0430000	Abnormal frontal bone morphology	633	BGN	OMIM:300989
HP:0430000	Abnormal frontal bone morphology	164	AP1G1	OMIM:619467
HP:0430000	Abnormal frontal bone morphology	3977	LIFR	OMIM:601559
HP:0430000	Abnormal frontal bone morphology	26040	SETBP1	OMIM:616078
HP:0430000	Abnormal frontal bone morphology	26040	SETBP1	ORPHA:798
HP:0430000	Abnormal frontal bone morphology	5144	PDE4D	ORPHA:439822
HP:0430000	Abnormal frontal bone morphology	2475	MTOR	ORPHA:457485
HP:0430000	Abnormal frontal bone morphology	2475	MTOR	OMIM:616638
HP:0430000	Abnormal frontal bone morphology	23384	SPECC1L	OMIM:145420
HP:0430000	Abnormal frontal bone morphology	4990	SIX6	OMIM:206900
HP:0430000	Abnormal frontal bone morphology	6657	SOX2	OMIM:206900
HP:0430000	Abnormal frontal bone morphology	9321	TRIP11	ORPHA:166272
HP:0430000	Abnormal frontal bone morphology	9321	TRIP11	ORPHA:93299
HP:0430000	Abnormal frontal bone morphology	9791	PTDSS1	OMIM:151050
HP:0430000	Abnormal frontal bone morphology	4882	NPR2	OMIM:602875
HP:0430000	Abnormal frontal bone morphology	4882	NPR2	ORPHA:40
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	OMIM:619476
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	OMIM:619479
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	57498	KIDINS220	OMIM:617296
HP:0430000	Abnormal frontal bone morphology	10526	IPO8	OMIM:619472
HP:0430000	Abnormal frontal bone morphology	145173	B3GLCT	OMIM:261540
HP:0430000	Abnormal frontal bone morphology	145173	B3GLCT	ORPHA:709
HP:0430000	Abnormal frontal bone morphology	1387	CREBBP	OMIM:180849
HP:0430000	Abnormal frontal bone morphology	2033	EP300	OMIM:180849
HP:0430000	Abnormal frontal bone morphology	79005	SCNM1	OMIM:620107
HP:0430000	Abnormal frontal bone morphology	10283	CWC27	OMIM:250410
HP:0430000	Abnormal frontal bone morphology	10283	CWC27	ORPHA:166035
HP:0430000	Abnormal frontal bone morphology	4796	TONSL	OMIM:271510
HP:0430000	Abnormal frontal bone morphology	4796	TONSL	ORPHA:93357
HP:0430000	Abnormal frontal bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0430000	Abnormal frontal bone morphology	57465	TBC1D24	ORPHA:79500
HP:0430000	Abnormal frontal bone morphology	11198	SUPT16H	OMIM:619480
HP:0430000	Abnormal frontal bone morphology	2887	GRB10	ORPHA:96182
HP:0430000	Abnormal frontal bone morphology	84172	POLR1B	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	9533	POLR1C	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	51082	POLR1D	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	6949	TCOF1	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	23405	DICER1	OMIM:618272
HP:0430000	Abnormal frontal bone morphology	55210	ATAD3A	OMIM:617183
HP:0430000	Abnormal frontal bone morphology	1298	COL9A2	OMIM:600204
HP:0430000	Abnormal frontal bone morphology	3636	INPPL1	OMIM:258480
HP:0430000	Abnormal frontal bone morphology	3636	INPPL1	ORPHA:2746
HP:0430000	Abnormal frontal bone morphology	4841	NONO	OMIM:300967
HP:0430000	Abnormal frontal bone morphology	4841	NONO	ORPHA:466791
HP:0430000	Abnormal frontal bone morphology	8567	MADD	OMIM:619005
HP:0430000	Abnormal frontal bone morphology	5058	PAK1	OMIM:618158
HP:0430000	Abnormal frontal bone morphology	10651	MTX2	OMIM:619127
HP:0430000	Abnormal frontal bone morphology	29123	ANKRD11	ORPHA:261250
HP:0430000	Abnormal frontal bone morphology	25839	COG4	ORPHA:85172
HP:0430000	Abnormal frontal bone morphology	64093	SMOC1	OMIM:206920
HP:0430000	Abnormal frontal bone morphology	64093	SMOC1	ORPHA:1106
HP:0430000	Abnormal frontal bone morphology	1028	CDKN1C	ORPHA:85173
HP:0430000	Abnormal frontal bone morphology	1028	CDKN1C	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	2799	GNS	OMIM:252940
HP:0430000	Abnormal frontal bone morphology	55599	RNPC3	OMIM:618160
HP:0430000	Abnormal frontal bone morphology	23387	SIK3	OMIM:618162
HP:0430000	Abnormal frontal bone morphology	6904	TBCD	OMIM:617193
HP:0430000	Abnormal frontal bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0430000	Abnormal frontal bone morphology	1984	EIF5A	OMIM:619376
HP:0430000	Abnormal frontal bone morphology	89970	RSPRY1	ORPHA:457395
HP:0430000	Abnormal frontal bone morphology	89970	RSPRY1	OMIM:616723
HP:0430000	Abnormal frontal bone morphology	9487	PIGL	OMIM:280000
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	OMIM:300804
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	OMIM:311200
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	ORPHA:2750
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	5557	PRIM1	OMIM:620005
HP:0430000	Abnormal frontal bone morphology	3295	HSD17B4	OMIM:261515
HP:0430000	Abnormal frontal bone morphology	83737	ITCH	ORPHA:228426
HP:0430000	Abnormal frontal bone morphology	83737	ITCH	OMIM:613385
HP:0430000	Abnormal frontal bone morphology	7474	WNT5A	OMIM:180700
HP:0430000	Abnormal frontal bone morphology	7474	WNT5A	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	9897	WASHC5	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	28952	CCDC22	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	6913	TBX15	OMIM:260660
HP:0430000	Abnormal frontal bone morphology	6913	TBX15	ORPHA:93333
HP:0430000	Abnormal frontal bone morphology	55181	SMG8	OMIM:619268
HP:0430000	Abnormal frontal bone morphology	27161	AGO2	OMIM:619149
HP:0430000	Abnormal frontal bone morphology	284361	EMC10	OMIM:619264
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	ORPHA:166024
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	OMIM:200990
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	OMIM:607131
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	7421	VDR	ORPHA:93160
HP:0430000	Abnormal frontal bone morphology	7421	VDR	OMIM:277440
HP:0430000	Abnormal frontal bone morphology	55503	TRPV6	OMIM:618188
HP:0430000	Abnormal frontal bone morphology	10312	TCIRG1	OMIM:259700
HP:0430000	Abnormal frontal bone morphology	775	CACNA1C	OMIM:620029
HP:0430000	Abnormal frontal bone morphology	5447	POR	ORPHA:95699
HP:0430000	Abnormal frontal bone morphology	5447	POR	OMIM:201750
HP:0430000	Abnormal frontal bone morphology	5447	POR	OMIM:207410
HP:0430000	Abnormal frontal bone morphology	9401	RECQL4	OMIM:268400
HP:0430000	Abnormal frontal bone morphology	9401	RECQL4	ORPHA:1225
HP:0430000	Abnormal frontal bone morphology	4983	OPHN1	OMIM:300486
HP:0430000	Abnormal frontal bone morphology	4774	NFIA	ORPHA:401986
HP:0430000	Abnormal frontal bone morphology	55112	DYNC2I1	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	57560	IFT80	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	79659	DYNC2H1	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	89891	DYNC2I2	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	4281	MID1	OMIM:300000
HP:0430000	Abnormal frontal bone morphology	9442	MED27	OMIM:619286
HP:0430000	Abnormal frontal bone morphology	2314	FLII	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	23096	IQSEC2	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10743	RAI1	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10522	DEAF1	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10522	DEAF1	OMIM:615828
HP:0430000	Abnormal frontal bone morphology	6662	SOX9	OMIM:114290
HP:0430000	Abnormal frontal bone morphology	5744	PTHLH	ORPHA:93387
HP:0430000	Abnormal frontal bone morphology	3239	HOXD13	ORPHA:93387
HP:0430000	Abnormal frontal bone morphology	4758	NEU1	ORPHA:812
HP:0430000	Abnormal frontal bone morphology	150468	CKAP2L	ORPHA:3255
HP:0430000	Abnormal frontal bone morphology	4038	LRP4	ORPHA:3258
HP:0430000	Abnormal frontal bone morphology	4038	LRP4	OMIM:614305
HP:0430000	Abnormal frontal bone morphology	324	APC	ORPHA:3258
HP:0430000	Abnormal frontal bone morphology	6595	SMARCA2	OMIM:619293
HP:0430000	Abnormal frontal bone morphology	51360	MBTPS2	ORPHA:2273
HP:0430000	Abnormal frontal bone morphology	57492	ARID1B	OMIM:135900
HP:0430000	Abnormal frontal bone morphology	64324	NSD1	OMIM:117550
HP:0430000	Abnormal frontal bone morphology	672	BRCA1	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	10459	MAD2L2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	7516	XRCC2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	29089	UBE2T	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	675	BRCA2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55120	FANCL	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2177	FANCD2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2175	FANCA	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2187	FANCB	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2176	FANCC	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2178	FANCE	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2188	FANCF	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2189	FANCG	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	5888	RAD51	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	5889	RAD51C	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55159	RFWD3	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	83990	BRIP1	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	57697	FANCM	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	79728	PALB2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	84464	SLX4	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2072	ERCC4	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55215	FANCI	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	83550	GPR101	ORPHA:963
HP:0430000	Abnormal frontal bone morphology	9049	AIP	ORPHA:963
HP:0430000	Abnormal frontal bone morphology	9049	AIP	ORPHA:99725
HP:0430000	Abnormal frontal bone morphology	23116	TOGARAM1	OMIM:619185
HP:0430000	Abnormal frontal bone morphology	9377	COX5A	OMIM:619064
HP:0430000	Abnormal frontal bone morphology	9839	ZEB2	ORPHA:261552
HP:0430000	Abnormal frontal bone morphology	1327	COX4I1	OMIM:619060
HP:0430000	Abnormal frontal bone morphology	860	RUNX2	OMIM:119600
HP:0430000	Abnormal frontal bone morphology	860	RUNX2	ORPHA:1452
HP:0430000	Abnormal frontal bone morphology	9184	BUB3	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	699	BUB1	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	9702	CEP57	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	9702	CEP57	OMIM:614114
HP:0430000	Abnormal frontal bone morphology	9319	TRIP13	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	701	BUB1B	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	10682	EBP	ORPHA:35173
HP:0430000	Abnormal frontal bone morphology	10682	EBP	OMIM:302960
HP:0430000	Abnormal frontal bone morphology	4591	TRIM37	OMIM:253250
HP:0430000	Abnormal frontal bone morphology	1954	MEGF8	OMIM:614976
HP:0430000	Abnormal frontal bone morphology	4338	MOCS2	OMIM:252160
HP:0430000	Abnormal frontal bone morphology	657	BMPR1A	ORPHA:79076
HP:0430000	Abnormal frontal bone morphology	25942	SIN3A	OMIM:613406
HP:0430000	Abnormal frontal bone morphology	3425	IDUA	OMIM:607014
HP:0430000	Abnormal frontal bone morphology	3425	IDUA	ORPHA:93473
HP:0430000	Abnormal frontal bone morphology	6197	RPS6KA3	ORPHA:276630
HP:0430000	Abnormal frontal bone morphology	6197	RPS6KA3	ORPHA:192
HP:0430000	Abnormal frontal bone morphology	2697	GJA1	OMIM:257850
HP:0430000	Abnormal frontal bone morphology	3192	HNRNPU	ORPHA:238769
HP:0430000	Abnormal frontal bone morphology	5251	PHEX	ORPHA:89936
HP:0430000	Abnormal frontal bone morphology	5251	PHEX	OMIM:307800
HP:0430000	Abnormal frontal bone morphology	1857	DVL3	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	1857	DVL3	OMIM:616894
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	OMIM:164745
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	ORPHA:93328
HP:0430000	Abnormal frontal bone morphology	2332	FMR1	ORPHA:908
HP:0430000	Abnormal frontal bone morphology	5290	PIK3CA	ORPHA:60040
HP:0430000	Abnormal frontal bone morphology	285175	UNC80	OMIM:616801
HP:0430000	Abnormal frontal bone morphology	285175	UNC80	ORPHA:371364
HP:0430000	Abnormal frontal bone morphology	11128	POLR3A	OMIM:264090
HP:0430000	Abnormal frontal bone morphology	11128	POLR3A	ORPHA:3455
HP:0430000	Abnormal frontal bone morphology	23137	SMC5	OMIM:620185
HP:0430000	Abnormal frontal bone morphology	57459	GATAD2B	ORPHA:363686
HP:0430000	Abnormal frontal bone morphology	728294	D2HGDH	OMIM:600721
HP:0430000	Abnormal frontal bone morphology	6774	STAT3	OMIM:147060
HP:0430000	Abnormal frontal bone morphology	5159	PDGFRB	OMIM:601812
HP:0430000	Abnormal frontal bone morphology	5324	PLAG1	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	182	JAG1	OMIM:118450
HP:0430000	Abnormal frontal bone morphology	5832	ALDH18A1	OMIM:219150
HP:0430000	Abnormal frontal bone morphology	4221	MEN1	ORPHA:99725
HP:0430000	Abnormal frontal bone morphology	471	ATIC	OMIM:608688
HP:0430000	Abnormal frontal bone morphology	388015	RTL1	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	8788	DLK1	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	55384	MEG3	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	114548	NLRP3	OMIM:607115
HP:0430000	Abnormal frontal bone morphology	114548	NLRP3	ORPHA:1451
HP:0430000	Abnormal frontal bone morphology	5295	PIK3R1	OMIM:269880
HP:0430000	Abnormal frontal bone morphology	254065	BRWD3	OMIM:300659
HP:0430000	Abnormal frontal bone morphology	9652	SKIC3	OMIM:222470
HP:0430000	Abnormal frontal bone morphology	10661	KLF1	OMIM:613673
HP:0430000	Abnormal frontal bone morphology	729920	CRPPA	OMIM:614643
HP:0430000	Abnormal frontal bone morphology	1302	COL11A2	OMIM:614524
HP:0430000	Abnormal frontal bone morphology	1836	SLC26A2	ORPHA:93298
HP:0430000	Abnormal frontal bone morphology	4313	MMP2	OMIM:259600
HP:0430000	Abnormal frontal bone morphology	1186	CLCN7	ORPHA:53
HP:0430000	Abnormal frontal bone morphology	91252	SLC39A13	OMIM:612350
HP:0430000	Abnormal frontal bone morphology	2702	GJA5	OMIM:612474
HP:0430000	Abnormal frontal bone morphology	2703	GJA8	OMIM:612474
HP:0430000	Abnormal frontal bone morphology	867	CBL	OMIM:613563
HP:0430000	Abnormal frontal bone morphology	51025	PAM16	OMIM:613320
HP:0430000	Abnormal frontal bone morphology	27152	INTU	OMIM:617925
HP:0430000	Abnormal frontal bone morphology	51053	GMNN	OMIM:616835
HP:0430000	Abnormal frontal bone morphology	2200	FBN1	ORPHA:2462
HP:0430000	Abnormal frontal bone morphology	196528	ARID2	OMIM:617808
HP:0430000	Abnormal frontal bone morphology	8260	NAA10	ORPHA:276432
HP:0430000	Abnormal frontal bone morphology	3720	JARID2	OMIM:620098
HP:0430000	Abnormal frontal bone morphology	132	ADK	OMIM:614300
HP:0430000	Abnormal frontal bone morphology	9759	HDAC4	ORPHA:1001
HP:0430000	Abnormal frontal bone morphology	11133	KPTN	OMIM:615637
HP:0430000	Abnormal frontal bone morphology	11133	KPTN	ORPHA:397612
HP:0430000	Abnormal frontal bone morphology	23028	KDM1A	OMIM:616728
HP:0430000	Abnormal frontal bone morphology	79650	USB1	OMIM:604173
HP:0430000	Abnormal frontal bone morphology	5160	PDHA1	OMIM:312170
HP:0430000	Abnormal frontal bone morphology	4792	NFKBIA	OMIM:612132
HP:0430000	Abnormal frontal bone morphology	2902	GRIN1	OMIM:617820
HP:0430000	Abnormal frontal bone morphology	10735	STAG2	OMIM:301022
HP:0430000	Abnormal frontal bone morphology	5604	MAP2K1	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	5605	MAP2K2	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	29940	DSE	OMIM:615539
HP:0430000	Abnormal frontal bone morphology	8517	IKBKG	OMIM:300291
HP:0430000	Abnormal frontal bone morphology	1000	CDH2	OMIM:618929
HP:0430000	Abnormal frontal bone morphology	176	ACAN	OMIM:165800
HP:0430000	Abnormal frontal bone morphology	3758	KCNJ1	OMIM:241200
HP:0430000	Abnormal frontal bone morphology	25	ABL1	OMIM:617602
HP:0430000	Abnormal frontal bone morphology	4041	LRP5	ORPHA:2788
HP:0430000	Abnormal frontal bone morphology	54551	MAGEL2	OMIM:615547
HP:0430000	Abnormal frontal bone morphology	9419	CRIPT	OMIM:615789
HP:0430000	Abnormal frontal bone morphology	139285	AMER1	ORPHA:2780
HP:0430000	Abnormal frontal bone morphology	139285	AMER1	OMIM:300373
HP:0430000	Abnormal frontal bone morphology	55644	OSGEP	OMIM:617729
HP:0430000	Abnormal frontal bone morphology	2313	FLI1	ORPHA:2308
HP:0430000	Abnormal frontal bone morphology	2517	FUCA1	OMIM:230000
HP:0430000	Abnormal frontal bone morphology	7204	TRIO	OMIM:618825
HP:0430000	Abnormal frontal bone morphology	4337	MOCS1	OMIM:252150
HP:0430000	Abnormal frontal bone morphology	51520	LARS1	OMIM:615438
HP:0430000	Abnormal frontal bone morphology	4329	ALDH6A1	OMIM:614105
HP:0430000	Abnormal frontal bone morphology	259232	NALCN	ORPHA:371364
HP:0430000	Abnormal frontal bone morphology	7040	TGFB1	ORPHA:1328
HP:0430000	Abnormal frontal bone morphology	5293	PIK3CD	ORPHA:221139
HP:0430000	Abnormal frontal bone morphology	90417	KNSTRN	ORPHA:221139
HP:0430000	Abnormal frontal bone morphology	8405	SPOP	OMIM:618829
HP:0430000	Abnormal frontal bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0430000	Abnormal frontal bone morphology	128178	EDARADD	OMIM:224900
HP:0430000	Abnormal frontal bone morphology	10913	EDAR	OMIM:224900
HP:0430000	Abnormal frontal bone morphology	284252	KCTD1	OMIM:181270
HP:0430000	Abnormal frontal bone morphology	60401	EDA2R	ORPHA:181
HP:0430000	Abnormal frontal bone morphology	5500	PPP1CB	OMIM:617506
HP:0430000	Abnormal frontal bone morphology	6519	SLC3A1	ORPHA:163690
HP:0430000	Abnormal frontal bone morphology	6519	SLC3A1	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	9581	PREPL	ORPHA:163690
HP:0430000	Abnormal frontal bone morphology	9581	PREPL	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	84628	NTNG2	OMIM:618718
HP:0430000	Abnormal frontal bone morphology	113246	C12orf57	OMIM:218340
HP:0430000	Abnormal frontal bone morphology	5495	PPM1B	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	79823	CAMKMT	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	51	ACOX1	OMIM:264470
HP:0430000	Abnormal frontal bone morphology	5296	PIK3R2	OMIM:603387
HP:0430000	Abnormal frontal bone morphology	126792	B3GALT6	ORPHA:536467
HP:0430000	Abnormal frontal bone morphology	126792	B3GALT6	OMIM:615349
HP:0430000	Abnormal frontal bone morphology	23247	KATNIP	OMIM:616784
HP:0430000	Abnormal frontal bone morphology	10020	GNE	OMIM:269921
HP:0430000	Abnormal frontal bone morphology	8777	MPDZ	OMIM:615219
HP:0430000	Abnormal frontal bone morphology	5449	POU1F1	OMIM:613038
HP:0430000	Abnormal frontal bone morphology	23389	MED13L	OMIM:616789
HP:0430000	Abnormal frontal bone morphology	9757	KMT2B	OMIM:619934
HP:0430000	Abnormal frontal bone morphology	10210	TOPORS	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	26123	TCTN3	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	5147	PDE6D	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	65250	CPLANE1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	317662	FAM149B1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	9469	CHST3	OMIM:245600
HP:0430000	Abnormal frontal bone morphology	26229	B3GAT3	OMIM:245600
HP:0430000	Abnormal frontal bone morphology	1280	COL2A1	OMIM:200610
HP:0430000	Abnormal frontal bone morphology	2036	EPB41L1	OMIM:614257
HP:0430000	Abnormal frontal bone morphology	10736	SIX2	ORPHA:488437
HP:0430000	Abnormal frontal bone morphology	8398	PLA2G6	OMIM:256600
HP:0430000	Abnormal frontal bone morphology	2260	FGFR1	OMIM:615465
HP:0430000	Abnormal frontal bone morphology	4524	MTHFR	ORPHA:563612
HP:0430000	Abnormal frontal bone morphology	57216	VANGL2	ORPHA:563612
HP:0430000	Abnormal frontal bone morphology	8092	ALX1	ORPHA:306542
HP:0430000	Abnormal frontal bone morphology	1499	CTNNB1	ORPHA:54595
HP:0430000	Abnormal frontal bone morphology	673	BRAF	ORPHA:54595
HP:0430007	Symblepharon	55612	FERMT1	OMIM:173650
HP:0430007	Symblepharon	3909	LAMA3	OMIM:245660
HP:0430007	Symblepharon	4921	DDR2	OMIM:618175
HP:0430009	Hypoplasia of eyelid	1984	EIF5A	OMIM:619376
HP:0430009	Hypoplasia of eyelid	117581	TWIST2	OMIM:200110
HP:0430009	Hypoplasia of eyelid	8882	ZPR1	OMIM:619321
HP:0004900	Severe lactic acidosis	10128	LRPPRC	OMIM:220111
HP:0004900	Severe lactic acidosis	51241	COX16	OMIM:619355
HP:0004900	Severe lactic acidosis	4556	MT-TE	ORPHA:254864
HP:0004900	Severe lactic acidosis	55687	TRMU	ORPHA:254864
HP:0004900	Severe lactic acidosis	57107	PDSS2	ORPHA:255249
HP:0004900	Severe lactic acidosis	27235	COQ2	ORPHA:255249
HP:0004900	Severe lactic acidosis	4576	MT-TT	ORPHA:254857
HP:0004900	Severe lactic acidosis	115286	SLC25A26	OMIM:616794
HP:0004900	Severe lactic acidosis	790955	UQCC3	OMIM:616111
HP:0004900	Severe lactic acidosis	50484	RRM2B	OMIM:612075
HP:0004900	Severe lactic acidosis	5160	PDHA1	OMIM:312170
HP:0004900	Severe lactic acidosis	4724	NDUFS4	OMIM:252010
HP:0004900	Severe lactic acidosis	4720	NDUFS2	OMIM:618228
HP:0004900	Severe lactic acidosis	291	SLC25A4	OMIM:615418
HP:0004900	Severe lactic acidosis	10102	TSFM	OMIM:610505
HP:0004900	Severe lactic acidosis	617	BCS1L	OMIM:124000
HP:0004901	Exercise-induced lactic acidemia	55750	AGK	OMIM:212350
HP:0004902	Congenital lactic acidosis	84300	UQCC2	OMIM:615824
HP:0004902	Congenital lactic acidosis	4967	OGDH	OMIM:203740
HP:0004902	Congenital lactic acidosis	9361	LONP1	ORPHA:79243
HP:0004902	Congenital lactic acidosis	5160	PDHA1	ORPHA:79243
HP:0004904	Maturity-onset diabetes of the young	6927	HNF1A	OMIM:600496
HP:0004904	Maturity-onset diabetes of the young	6927	HNF1A	ORPHA:324575
HP:0004904	Maturity-onset diabetes of the young	6927	HNF1A	OMIM:142330
HP:0004904	Maturity-onset diabetes of the young	388015	RTL1	ORPHA:96184
HP:0004904	Maturity-onset diabetes of the young	388015	RTL1	ORPHA:254531
HP:0004904	Maturity-onset diabetes of the young	8788	DLK1	ORPHA:96184
HP:0004904	Maturity-onset diabetes of the young	8788	DLK1	ORPHA:254531
HP:0004904	Maturity-onset diabetes of the young	55384	MEG3	ORPHA:96184
HP:0004904	Maturity-onset diabetes of the young	55384	MEG3	ORPHA:254531
HP:0004904	Maturity-onset diabetes of the young	1056	CEL	OMIM:609812
HP:0004904	Maturity-onset diabetes of the young	3630	INS	OMIM:613370
HP:0004904	Maturity-onset diabetes of the young	6928	HNF1B	OMIM:137920
HP:0004904	Maturity-onset diabetes of the young	640	BLK	OMIM:613375
HP:0004904	Maturity-onset diabetes of the young	26060	APPL1	OMIM:616511
HP:0004904	Maturity-onset diabetes of the young	3651	PDX1	OMIM:606392
HP:0004904	Maturity-onset diabetes of the young	5078	PAX4	OMIM:612225
HP:0004904	Maturity-onset diabetes of the young	3767	KCNJ11	OMIM:616329
HP:0004904	Maturity-onset diabetes of the young	3767	KCNJ11	ORPHA:99886
HP:0004904	Maturity-onset diabetes of the young	4760	NEUROD1	OMIM:606394
HP:0004904	Maturity-onset diabetes of the young	346171	ZFP57	ORPHA:99886
HP:0004904	Maturity-onset diabetes of the young	57061	HYMAI	ORPHA:99886
HP:0004904	Maturity-onset diabetes of the young	6833	ABCC8	ORPHA:99886
HP:0004904	Maturity-onset diabetes of the young	5325	PLAGL1	ORPHA:99886
HP:0004904	Maturity-onset diabetes of the young	3172	HNF4A	OMIM:125850
HP:0004904	Maturity-onset diabetes of the young	2645	GCK	OMIM:125851
HP:0004904	Maturity-onset diabetes of the young	5092	PCBD1	ORPHA:1578
HP:0004904	Maturity-onset diabetes of the young	8462	KLF11	OMIM:610508
HP:0004905	Low levels of vitamin A	4547	MTTP	ORPHA:14
HP:0004905	Low levels of vitamin A	123264	SLC51B	OMIM:619481
HP:0004905	Low levels of vitamin A	2859	GPR35	ORPHA:171
HP:0004905	Low levels of vitamin A	10507	SEMA4D	ORPHA:171
HP:0004905	Low levels of vitamin A	4485	MST1	ORPHA:171
HP:0004905	Low levels of vitamin A	6925	TCF4	ORPHA:171
HP:0004905	Low levels of vitamin A	54914	FOCAD	OMIM:619991
HP:0004905	Low levels of vitamin A	53630	BCO1	OMIM:115300
HP:0004905	Low levels of vitamin A	57704	GBA2	ORPHA:352641
HP:0004905	Low levels of vitamin A	338	APOB	OMIM:615558
HP:0004905	Low levels of vitamin A	10056	FARSB	OMIM:613658
HP:0004905	Low levels of vitamin A	199221	DZIP1L	ORPHA:731
HP:0004905	Low levels of vitamin A	5314	PKHD1	ORPHA:731
HP:0004905	Low levels of vitamin A	134218	DNAJC21	ORPHA:811
HP:0004905	Low levels of vitamin A	79631	EFL1	ORPHA:811
HP:0004905	Low levels of vitamin A	51119	SBDS	ORPHA:811
HP:0004905	Low levels of vitamin A	6729	SRP54	ORPHA:811
HP:0004906	Hypernatremic dehydration	11005	SPINK5	OMIM:256500
HP:0004906	Hypernatremic dehydration	554	AVPR2	ORPHA:223
HP:0004906	Hypernatremic dehydration	359	AQP2	ORPHA:223
HP:0004906	Hypernatremic dehydration	771	CA12	OMIM:143860
HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	1187	CLCNKA	OMIM:613090
HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	1188	CLCNKB	OMIM:613090
HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	7809	BSND	OMIM:602522
HP:0430015	Abnormal morphology of musculature of pharynx	5354	PLP1	ORPHA:280210
HP:0430015	Abnormal morphology of musculature of pharynx	9782	MATR3	ORPHA:600
HP:0430015	Abnormal morphology of musculature of pharynx	10755	GIPC1	ORPHA:98897
HP:0430015	Abnormal morphology of musculature of pharynx	100996717	NOTCH2NLC	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	10755	GIPC1	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	100996717	NOTCH2NLC	ORPHA:98897
HP:0004910	Bicarbonate-wasting renal tubular acidosis	8671	SLC4A4	OMIM:604278
HP:0004910	Bicarbonate-wasting renal tubular acidosis	1962	EHHADH	ORPHA:3337
HP:0004910	Bicarbonate-wasting renal tubular acidosis	2628	GATM	ORPHA:3337
HP:0004910	Bicarbonate-wasting renal tubular acidosis	137682	NDUFAF6	ORPHA:3337
HP:0004910	Bicarbonate-wasting renal tubular acidosis	6569	SLC34A1	ORPHA:3337
HP:0004912	Hypophosphatemic rickets	5251	PHEX	OMIM:307800
HP:0004912	Hypophosphatemic rickets	1497	CTNS	OMIM:219800
HP:0004912	Hypophosphatemic rickets	3172	HNF4A	ORPHA:263455
HP:0004912	Hypophosphatemic rickets	142680	SLC34A3	ORPHA:157215
HP:0004912	Hypophosphatemic rickets	142680	SLC34A3	OMIM:241530
HP:0004912	Hypophosphatemic rickets	6569	SLC34A1	ORPHA:157215
HP:0004912	Hypophosphatemic rickets	6569	SLC34A1	ORPHA:3337
HP:0004912	Hypophosphatemic rickets	1184	CLCN5	OMIM:300554
HP:0004912	Hypophosphatemic rickets	5442	POLRMT	OMIM:619743
HP:0004912	Hypophosphatemic rickets	1758	DMP1	OMIM:241520
HP:0004912	Hypophosphatemic rickets	1758	DMP1	ORPHA:289176
HP:0004912	Hypophosphatemic rickets	368	ABCC6	OMIM:614473
HP:0004912	Hypophosphatemic rickets	368	ABCC6	ORPHA:51608
HP:0004912	Hypophosphatemic rickets	5167	ENPP1	ORPHA:289176
HP:0004912	Hypophosphatemic rickets	5167	ENPP1	ORPHA:51608
HP:0004912	Hypophosphatemic rickets	5167	ENPP1	OMIM:208000
HP:0004912	Hypophosphatemic rickets	5167	ENPP1	OMIM:613312
HP:0004912	Hypophosphatemic rickets	137682	NDUFAF6	OMIM:618913
HP:0004912	Hypophosphatemic rickets	137682	NDUFAF6	ORPHA:3337
HP:0004912	Hypophosphatemic rickets	4665	NAB2	ORPHA:2126
HP:0004912	Hypophosphatemic rickets	6778	STAT6	ORPHA:2126
HP:0004912	Hypophosphatemic rickets	8074	FGF23	OMIM:193100
HP:0004912	Hypophosphatemic rickets	2184	FAH	OMIM:276700
HP:0004912	Hypophosphatemic rickets	3845	KRAS	OMIM:163200
HP:0004912	Hypophosphatemic rickets	4893	NRAS	OMIM:163200
HP:0004912	Hypophosphatemic rickets	3265	HRAS	OMIM:163200
HP:0004912	Hypophosphatemic rickets	3265	HRAS	ORPHA:2874
HP:0004912	Hypophosphatemic rickets	1962	EHHADH	ORPHA:3337
HP:0004912	Hypophosphatemic rickets	2628	GATM	ORPHA:3337
HP:0004913	Intermittent lactic acidemia	6901	TAFAZZIN	OMIM:302060
HP:0004913	Intermittent lactic acidemia	5836	PYGL	ORPHA:369
HP:0004913	Intermittent lactic acidemia	2203	FBP1	ORPHA:348
HP:0004914	Recurrent infantile hypoglycemia	3643	INSR	ORPHA:508
HP:0004915	Impairment of galactose metabolism	130589	GALM	ORPHA:570422
HP:0004915	Impairment of galactose metabolism	6514	SLC2A2	ORPHA:2088
HP:0004918	Hyperchloremic metabolic acidosis	65266	WNK4	OMIM:614491
HP:0004918	Hyperchloremic metabolic acidosis	65125	WNK1	OMIM:614492
HP:0004918	Hyperchloremic metabolic acidosis	26249	KLHL3	OMIM:614495
HP:0004918	Hyperchloremic metabolic acidosis	6521	SLC4A1	OMIM:611590
HP:0004918	Hyperchloremic metabolic acidosis	8452	CUL3	OMIM:614496
HP:0004918	Hyperchloremic metabolic acidosis	50674	NEUROG3	OMIM:610370
HP:0004918	Hyperchloremic metabolic acidosis	50674	NEUROG3	ORPHA:83620
HP:0004918	Hyperchloremic metabolic acidosis	137682	NDUFAF6	OMIM:618913
HP:0004918	Hyperchloremic metabolic acidosis	137682	NDUFAF6	ORPHA:3337
HP:0004918	Hyperchloremic metabolic acidosis	2592	GALT	OMIM:230400
HP:0004918	Hyperchloremic metabolic acidosis	1497	CTNS	ORPHA:411629
HP:0004918	Hyperchloremic metabolic acidosis	1962	EHHADH	ORPHA:3337
HP:0004918	Hyperchloremic metabolic acidosis	2628	GATM	ORPHA:3337
HP:0004918	Hyperchloremic metabolic acidosis	6569	SLC34A1	ORPHA:3337
HP:0004919	Galactose intolerance	6514	SLC2A2	ORPHA:2088
HP:0430021	Abnormal common carotid artery morphology	137814	NKX2-6	ORPHA:3384
HP:0430021	Abnormal common carotid artery morphology	23129	PLXND1	ORPHA:3384
HP:0430021	Abnormal common carotid artery morphology	59	ACTA2	OMIM:613834
HP:0430021	Abnormal common carotid artery morphology	6651	SON	ORPHA:500150
HP:0430025	Bilateral facial palsy	5339	PLEC	ORPHA:254361
HP:0430025	Bilateral facial palsy	23345	SYNE1	ORPHA:319332
HP:0430022	Abnormality of the sphenoid sinus	4125	MAN2B1	ORPHA:309282
HP:0430022	Abnormality of the sphenoid sinus	4763	NF1	ORPHA:363700
HP:0430022	Abnormality of the sphenoid sinus	4763	NF1	ORPHA:97685
HP:0430029	Hyperplasia of the premaxilla	4784	NFIX	OMIM:614753
HP:0430028	Hyperplasia of the maxilla	157570	ESCO2	OMIM:268300
HP:0430028	Hyperplasia of the maxilla	79759	ZNF668	OMIM:620194
HP:0430028	Hyperplasia of the maxilla	6660	SOX5	ORPHA:313892
HP:0430028	Hyperplasia of the maxilla	80232	WDR26	ORPHA:513456
HP:0430028	Hyperplasia of the maxilla	80232	WDR26	OMIM:617616
HP:0430028	Hyperplasia of the maxilla	1173	AP2M1	OMIM:618587
HP:0430028	Hyperplasia of the maxilla	3043	HBB	ORPHA:231226
HP:0430028	Hyperplasia of the maxilla	3043	HBB	ORPHA:231214
HP:0430028	Hyperplasia of the maxilla	27107	ZBTB11	OMIM:618383
HP:0430028	Hyperplasia of the maxilla	55084	SOBP	OMIM:613671
HP:0430028	Hyperplasia of the maxilla	25942	SIN3A	OMIM:613406
HP:0430028	Hyperplasia of the maxilla	2273	FHL1	OMIM:300280
HP:0000309	Abnormal midface morphology	50964	SOST	OMIM:269500
HP:0000309	Abnormal midface morphology	10128	LRPPRC	OMIM:220111
HP:0000309	Abnormal midface morphology	7528	YY1	ORPHA:506358
HP:0000309	Abnormal midface morphology	7528	YY1	OMIM:617557
HP:0000309	Abnormal midface morphology	2077	ERF	OMIM:600775
HP:0000309	Abnormal midface morphology	9131	AIFM1	OMIM:300232
HP:0000309	Abnormal midface morphology	6535	SLC6A8	OMIM:300352
HP:0000309	Abnormal midface morphology	6535	SLC6A8	ORPHA:52503
HP:0000309	Abnormal midface morphology	11253	MAN1B1	ORPHA:397941
HP:0000309	Abnormal midface morphology	11253	MAN1B1	OMIM:614202
HP:0000309	Abnormal midface morphology	54507	ADAMTSL4	ORPHA:1885
HP:0000309	Abnormal midface morphology	8425	LTBP4	OMIM:613177
HP:0000309	Abnormal midface morphology	55624	POMGNT1	OMIM:253280
HP:0000309	Abnormal midface morphology	2261	FGFR3	ORPHA:53271
HP:0000309	Abnormal midface morphology	2261	FGFR3	ORPHA:93262
HP:0000309	Abnormal midface morphology	2261	FGFR3	OMIM:146000
HP:0000309	Abnormal midface morphology	2261	FGFR3	OMIM:100800
HP:0000309	Abnormal midface morphology	2261	FGFR3	OMIM:602849
HP:0000309	Abnormal midface morphology	55777	MBD5	ORPHA:228402
HP:0000309	Abnormal midface morphology	3636	INPPL1	ORPHA:3144
HP:0000309	Abnormal midface morphology	23169	SLC35D1	ORPHA:3144
HP:0000309	Abnormal midface morphology	23169	SLC35D1	OMIM:269250
HP:0000309	Abnormal midface morphology	118987	PDZD8	OMIM:620021
HP:0000309	Abnormal midface morphology	23126	POGZ	ORPHA:468678
HP:0000309	Abnormal midface morphology	23126	POGZ	OMIM:616364
HP:0000309	Abnormal midface morphology	267010	RNU12	OMIM:603116
HP:0000309	Abnormal midface morphology	613	BCR	ORPHA:261330
HP:0000309	Abnormal midface morphology	1399	CRKL	ORPHA:261330
HP:0000309	Abnormal midface morphology	5594	MAPK1	ORPHA:261330
HP:0000309	Abnormal midface morphology	80816	ASXL3	OMIM:615485
HP:0000309	Abnormal midface morphology	1723	DHODH	OMIM:263750
HP:0000309	Abnormal midface morphology	1723	DHODH	ORPHA:246
HP:0000309	Abnormal midface morphology	10084	PQBP1	ORPHA:93946
HP:0000309	Abnormal midface morphology	10084	PQBP1	OMIM:309500
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:620157
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:620155
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:616831
HP:0000309	Abnormal midface morphology	5189	PEX1	OMIM:214100
HP:0000309	Abnormal midface morphology	4038	LRP4	ORPHA:3258
HP:0000309	Abnormal midface morphology	4038	LRP4	OMIM:212780
HP:0000309	Abnormal midface morphology	324	APC	ORPHA:3258
HP:0000309	Abnormal midface morphology	55650	PIGV	OMIM:239300
HP:0000309	Abnormal midface morphology	7021	TFAP2B	ORPHA:46627
HP:0000309	Abnormal midface morphology	5426	POLE	OMIM:615139
HP:0000309	Abnormal midface morphology	51109	RDH11	OMIM:616108
HP:0000309	Abnormal midface morphology	51109	RDH11	ORPHA:436245
HP:0000309	Abnormal midface morphology	55858	TMEM165	OMIM:614727
HP:0000309	Abnormal midface morphology	5191	PEX7	OMIM:215100
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:184840
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:614524
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:215150
HP:0000309	Abnormal midface morphology	1302	COL11A2	ORPHA:166100
HP:0000309	Abnormal midface morphology	10484	SEC23A	OMIM:607812
HP:0000309	Abnormal midface morphology	79813	EHMT1	OMIM:610253
HP:0000309	Abnormal midface morphology	7291	TWIST1	OMIM:101400
HP:0000309	Abnormal midface morphology	7291	TWIST1	OMIM:180750
HP:0000309	Abnormal midface morphology	5144	PDE4D	OMIM:614613
HP:0000309	Abnormal midface morphology	5144	PDE4D	ORPHA:439822
HP:0000309	Abnormal midface morphology	5144	PDE4D	ORPHA:280651
HP:0000309	Abnormal midface morphology	23314	SATB2	OMIM:612313
HP:0000309	Abnormal midface morphology	8642	DCHS1	OMIM:601390
HP:0000309	Abnormal midface morphology	26040	SETBP1	OMIM:269150
HP:0000309	Abnormal midface morphology	2296	FOXC1	OMIM:602482
HP:0000309	Abnormal midface morphology	1789	DNMT3B	OMIM:242860
HP:0000309	Abnormal midface morphology	5447	POR	OMIM:201750
HP:0000309	Abnormal midface morphology	5447	POR	OMIM:207410
HP:0000309	Abnormal midface morphology	4803	NGF	ORPHA:64752
HP:0000309	Abnormal midface morphology	4914	NTRK1	ORPHA:64752
HP:0000309	Abnormal midface morphology	11128	POLR3A	OMIM:264090
HP:0000309	Abnormal midface morphology	11128	POLR3A	ORPHA:3455
HP:0000309	Abnormal midface morphology	157570	ESCO2	ORPHA:3103
HP:0000309	Abnormal midface morphology	157570	ESCO2	OMIM:268300
HP:0000309	Abnormal midface morphology	2736	GLI2	OMIM:610829
HP:0000309	Abnormal midface morphology	4036	LRP2	OMIM:222448
HP:0000309	Abnormal midface morphology	26137	ZBTB20	OMIM:259050
HP:0000309	Abnormal midface morphology	4089	SMAD4	OMIM:139210
HP:0000309	Abnormal midface morphology	4849	CNOT3	OMIM:618672
HP:0000309	Abnormal midface morphology	641	BLM	OMIM:210900
HP:0000309	Abnormal midface morphology	641	BLM	ORPHA:125
HP:0000309	Abnormal midface morphology	6231	RPS26	OMIM:613309
HP:0000309	Abnormal midface morphology	124583	CANT1	OMIM:251450
HP:0000309	Abnormal midface morphology	3187	HNRNPH1	OMIM:620083
HP:0000309	Abnormal midface morphology	4920	ROR2	OMIM:268310
HP:0000309	Abnormal midface morphology	3835	KIF22	OMIM:603546
HP:0000309	Abnormal midface morphology	10743	RAI1	OMIM:182290
HP:0000309	Abnormal midface morphology	27086	FOXP1	OMIM:613670
HP:0000309	Abnormal midface morphology	546	ATRX	OMIM:309580
HP:0000309	Abnormal midface morphology	546	ATRX	OMIM:301040
HP:0000309	Abnormal midface morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000309	Abnormal midface morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000309	Abnormal midface morphology	4088	SMAD3	OMIM:613795
HP:0000309	Abnormal midface morphology	4088	SMAD3	ORPHA:284984
HP:0000309	Abnormal midface morphology	7048	TGFBR2	OMIM:610168
HP:0000309	Abnormal midface morphology	7048	TGFBR2	ORPHA:60030
HP:0000309	Abnormal midface morphology	51574	LARP7	ORPHA:319671
HP:0000309	Abnormal midface morphology	51574	LARP7	OMIM:615071
HP:0000309	Abnormal midface morphology	147372	CCBE1	OMIM:235510
HP:0000309	Abnormal midface morphology	50945	TBX22	ORPHA:921
HP:0000309	Abnormal midface morphology	701	BUB1B	OMIM:257300
HP:0000309	Abnormal midface morphology	10682	EBP	OMIM:302960
HP:0000309	Abnormal midface morphology	8626	TP63	ORPHA:69085
HP:0000309	Abnormal midface morphology	8626	TP63	OMIM:604292
HP:0000309	Abnormal midface morphology	4883	NPR3	OMIM:619543
HP:0000309	Abnormal midface morphology	55212	BBS7	OMIM:615984
HP:0000309	Abnormal midface morphology	2703	GJA8	OMIM:612474
HP:0000309	Abnormal midface morphology	7046	TGFBR1	ORPHA:60030
HP:0000309	Abnormal midface morphology	7046	TGFBR1	OMIM:609192
HP:0000309	Abnormal midface morphology	10526	IPO8	ORPHA:60030
HP:0000309	Abnormal midface morphology	1297	COL9A1	ORPHA:250984
HP:0000309	Abnormal midface morphology	1298	COL9A2	ORPHA:250984
HP:0000309	Abnormal midface morphology	1299	COL9A3	ORPHA:250984
HP:0000309	Abnormal midface morphology	84695	LOXL3	ORPHA:250984
HP:0000309	Abnormal midface morphology	4921	DDR2	OMIM:271665
HP:0000309	Abnormal midface morphology	8925	HERC1	OMIM:617011
HP:0000309	Abnormal midface morphology	8925	HERC1	ORPHA:457359
HP:0000309	Abnormal midface morphology	5193	PEX12	OMIM:266510
HP:0000309	Abnormal midface morphology	89970	RSPRY1	OMIM:616723
HP:0000309	Abnormal midface morphology	89970	RSPRY1	ORPHA:457395
HP:0000309	Abnormal midface morphology	23363	OBSL1	OMIM:612921
HP:0000309	Abnormal midface morphology	50814	NSDHL	ORPHA:251383
HP:0000309	Abnormal midface morphology	50814	NSDHL	OMIM:300831
HP:0000309	Abnormal midface morphology	5745	PTH1R	OMIM:215045
HP:0000309	Abnormal midface morphology	5745	PTH1R	ORPHA:50945
HP:0000309	Abnormal midface morphology	128869	PIGU	OMIM:618590
HP:0000309	Abnormal midface morphology	91179	SCARF2	OMIM:600920
HP:0000309	Abnormal midface morphology	4854	NOTCH3	OMIM:130720
HP:0000309	Abnormal midface morphology	4854	NOTCH3	ORPHA:2789
HP:0000309	Abnormal midface morphology	2623	GATA1	OMIM:190685
HP:0000309	Abnormal midface morphology	1289	COL5A1	OMIM:619329
HP:0000309	Abnormal midface morphology	176	ACAN	OMIM:612813
HP:0000309	Abnormal midface morphology	56975	FAM20C	OMIM:259775
HP:0000309	Abnormal midface morphology	4763	NF1	OMIM:601321
HP:0000309	Abnormal midface morphology	4763	NF1	ORPHA:139474
HP:0000309	Abnormal midface morphology	90161	HS6ST2	OMIM:301025
HP:0000309	Abnormal midface morphology	1741	DLG3	OMIM:300850
HP:0000309	Abnormal midface morphology	3039	HBA1	ORPHA:98791
HP:0000309	Abnormal midface morphology	3040	HBA2	ORPHA:98791
HP:0000309	Abnormal midface morphology	4621	MYH3	OMIM:193700
HP:0000309	Abnormal midface morphology	51132	RLIM	OMIM:300978
HP:0000309	Abnormal midface morphology	4125	MAN2B1	OMIM:248500
HP:0000309	Abnormal midface morphology	10082	GPC6	OMIM:258315
HP:0000309	Abnormal midface morphology	5831	PYCR1	OMIM:612940
HP:0000309	Abnormal midface morphology	5831	PYCR1	ORPHA:2078
HP:0000309	Abnormal midface morphology	9820	CUL7	OMIM:273750
HP:0000309	Abnormal midface morphology	92344	GORAB	OMIM:231070
HP:0000309	Abnormal midface morphology	92344	GORAB	ORPHA:2078
HP:0000309	Abnormal midface morphology	1312	COMT	ORPHA:567
HP:0000309	Abnormal midface morphology	221037	JMJD1C	ORPHA:567
HP:0000309	Abnormal midface morphology	2812	GP1BB	ORPHA:567
HP:0000309	Abnormal midface morphology	6239	RREB1	ORPHA:567
HP:0000309	Abnormal midface morphology	7290	HIRA	ORPHA:567
HP:0000309	Abnormal midface morphology	9632	SEC24C	ORPHA:567
HP:0000309	Abnormal midface morphology	7353	UFD1	ORPHA:567
HP:0000309	Abnormal midface morphology	421	ARVCF	ORPHA:567
HP:0000309	Abnormal midface morphology	1009	CDH11	OMIM:211380
HP:0000309	Abnormal midface morphology	6898	TAT	ORPHA:28378
HP:0000309	Abnormal midface morphology	444	ASPH	OMIM:601552
HP:0000309	Abnormal midface morphology	6469	SHH	OMIM:142945
HP:0000309	Abnormal midface morphology	7703	PCGF2	OMIM:618371
HP:0000309	Abnormal midface morphology	1277	COL1A1	OMIM:130060
HP:0000309	Abnormal midface morphology	9496	TBX4	ORPHA:261279
HP:0000309	Abnormal midface morphology	633	BGN	OMIM:300989
HP:0000309	Abnormal midface morphology	5277	PIGA	OMIM:300868
HP:0000309	Abnormal midface morphology	8985	PLOD3	OMIM:612394
HP:0000309	Abnormal midface morphology	6628	SNRPB	OMIM:117650
HP:0000309	Abnormal midface morphology	2892	GRIA3	ORPHA:364028
HP:0000309	Abnormal midface morphology	51604	PIGT	ORPHA:369837
HP:0000309	Abnormal midface morphology	4796	TONSL	OMIM:271510
HP:0000309	Abnormal midface morphology	23545	ATP6V0A2	OMIM:219200
HP:0000309	Abnormal midface morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000309	Abnormal midface morphology	23630	KCNE5	ORPHA:86818
HP:0000309	Abnormal midface morphology	2182	ACSL4	ORPHA:86818
HP:0000309	Abnormal midface morphology	9949	AMMECR1	ORPHA:86818
HP:0000309	Abnormal midface morphology	4841	NONO	OMIM:300967
HP:0000309	Abnormal midface morphology	4841	NONO	ORPHA:466791
HP:0000309	Abnormal midface morphology	25839	COG4	ORPHA:85172
HP:0000309	Abnormal midface morphology	126792	B3GALT6	OMIM:271640
HP:0000309	Abnormal midface morphology	9759	HDAC4	OMIM:600430
HP:0000309	Abnormal midface morphology	4094	MAF	OMIM:601088
HP:0000309	Abnormal midface morphology	4256	MGP	OMIM:245150
HP:0000309	Abnormal midface morphology	523	ATP6V1A	ORPHA:357074
HP:0000309	Abnormal midface morphology	529	ATP6V1E1	ORPHA:357074
HP:0000309	Abnormal midface morphology	529	ATP6V1E1	OMIM:617402
HP:0000309	Abnormal midface morphology	29920	PYCR2	OMIM:616420
HP:0000309	Abnormal midface morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000309	Abnormal midface morphology	387	RHOA	OMIM:618727
HP:0000309	Abnormal midface morphology	5449	POU1F1	OMIM:613038
HP:0000309	Abnormal midface morphology	4693	NDP	ORPHA:649
HP:0000309	Abnormal midface morphology	9939	RBM8A	OMIM:274000
HP:0000309	Abnormal midface morphology	6496	SIX3	OMIM:157170
HP:0000309	Abnormal midface morphology	7474	WNT5A	OMIM:180700
HP:0000309	Abnormal midface morphology	1855	DVL1	OMIM:180700
HP:0000309	Abnormal midface morphology	5573	PRKAR1A	ORPHA:280651
HP:0000309	Abnormal midface morphology	9130	FAM50A	OMIM:300261
HP:0000309	Abnormal midface morphology	4204	MECP2	OMIM:300260
HP:0000309	Abnormal midface morphology	2535	FZD2	ORPHA:93328
HP:0000309	Abnormal midface morphology	5077	PAX3	OMIM:122880
HP:0000309	Abnormal midface morphology	871	SERPINH1	OMIM:613848
HP:0000309	Abnormal midface morphology	121340	SP7	OMIM:613849
HP:0000309	Abnormal midface morphology	2137	EXTL3	ORPHA:508533
HP:0000309	Abnormal midface morphology	2137	EXTL3	OMIM:617425
HP:0000309	Abnormal midface morphology	9488	PIGB	OMIM:618580
HP:0000309	Abnormal midface morphology	3376	IARS1	OMIM:617093
HP:0000309	Abnormal midface morphology	3376	IARS1	ORPHA:541423
HP:0000309	Abnormal midface morphology	6309	SC5D	ORPHA:46059
HP:0000309	Abnormal midface morphology	91754	NEK9	OMIM:614262
HP:0000309	Abnormal midface morphology	23135	KDM6B	OMIM:618505
HP:0000309	Abnormal midface morphology	6885	MAP3K7	OMIM:617137
HP:0000309	Abnormal midface morphology	6885	MAP3K7	OMIM:157800
HP:0000309	Abnormal midface morphology	6885	MAP3K7	ORPHA:1826
HP:0000309	Abnormal midface morphology	57539	WDR35	OMIM:613610
HP:0000309	Abnormal midface morphology	3008	H1-4	OMIM:617537
HP:0000309	Abnormal midface morphology	85358	SHANK3	OMIM:606232
HP:0000309	Abnormal midface morphology	85358	SHANK3	ORPHA:48652
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:94089
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:612463
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:612462
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:79443
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:79444
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:103580
HP:0000309	Abnormal midface morphology	8675	STX16	ORPHA:94089
HP:0000309	Abnormal midface morphology	27125	AFF4	ORPHA:444077
HP:0000309	Abnormal midface morphology	80232	WDR26	ORPHA:513456
HP:0000309	Abnormal midface morphology	80232	WDR26	OMIM:617616
HP:0000309	Abnormal midface morphology	650	BMP2	ORPHA:261295
HP:0000309	Abnormal midface morphology	9578	CDC42BPB	OMIM:619841
HP:0000309	Abnormal midface morphology	29998	BICRA	OMIM:619325
HP:0000309	Abnormal midface morphology	6651	SON	OMIM:617140
HP:0000309	Abnormal midface morphology	6651	SON	ORPHA:500150
HP:0000309	Abnormal midface morphology	51506	UFC1	OMIM:618076
HP:0000309	Abnormal midface morphology	8882	ZPR1	OMIM:619321
HP:0000309	Abnormal midface morphology	6492	SIM1	ORPHA:171829
HP:0000309	Abnormal midface morphology	63916	ELMO2	ORPHA:3019
HP:0000309	Abnormal midface morphology	1841	DTYMK	OMIM:619847
HP:0000309	Abnormal midface morphology	4010	LMX1B	ORPHA:495818
HP:0000309	Abnormal midface morphology	6812	STXBP1	ORPHA:495818
HP:0000309	Abnormal midface morphology	1363	CPE	OMIM:619326
HP:0000309	Abnormal midface morphology	55904	KMT2E	OMIM:618512
HP:0000309	Abnormal midface morphology	4000	LMNA	OMIM:248370
HP:0000309	Abnormal midface morphology	4952	OCRL	ORPHA:534
HP:0000309	Abnormal midface morphology	57231	SNX14	ORPHA:397709
HP:0000309	Abnormal midface morphology	2542	SLC37A4	ORPHA:79259
HP:0000309	Abnormal midface morphology	65082	VPS33A	ORPHA:505248
HP:0000309	Abnormal midface morphology	10588	MTHFS	OMIM:618367
HP:0000309	Abnormal midface morphology	1020	CDK5	OMIM:616342
HP:0000309	Abnormal midface morphology	9739	SETD1A	OMIM:619056
HP:0000309	Abnormal midface morphology	3756	KCNH1	OMIM:135500
HP:0000309	Abnormal midface morphology	3756	KCNH1	ORPHA:420561
HP:0000309	Abnormal midface morphology	3423	IDS	ORPHA:217085
HP:0000309	Abnormal midface morphology	3423	IDS	ORPHA:217093
HP:0000309	Abnormal midface morphology	9326	ZNHIT3	ORPHA:2836
HP:0000309	Abnormal midface morphology	9326	ZNHIT3	OMIM:260565
HP:0000309	Abnormal midface morphology	547	KIF1A	ORPHA:2836
HP:0000309	Abnormal midface morphology	2248	FGF3	ORPHA:2791
HP:0000309	Abnormal midface morphology	83550	GPR101	ORPHA:963
HP:0000309	Abnormal midface morphology	9049	AIP	ORPHA:963
HP:0000309	Abnormal midface morphology	55764	IFT122	OMIM:218330
HP:0000309	Abnormal midface morphology	22827	PUF60	ORPHA:508488
HP:0000309	Abnormal midface morphology	22827	PUF60	OMIM:615583
HP:0000309	Abnormal midface morphology	538	ATP7A	ORPHA:565
HP:0000309	Abnormal midface morphology	3265	HRAS	ORPHA:3071
HP:0000309	Abnormal midface morphology	3265	HRAS	OMIM:218040
HP:0000309	Abnormal midface morphology	3265	HRAS	OMIM:137550
HP:0000309	Abnormal midface morphology	84314	TMEM107	ORPHA:564
HP:0000309	Abnormal midface morphology	26123	TCTN3	ORPHA:564
HP:0000309	Abnormal midface morphology	79867	TCTN2	ORPHA:564
HP:0000309	Abnormal midface morphology	80776	B9D2	ORPHA:564
HP:0000309	Abnormal midface morphology	79600	TCTN1	ORPHA:564
HP:0000309	Abnormal midface morphology	57096	RPGRIP1	ORPHA:564
HP:0000309	Abnormal midface morphology	79848	CSPP1	ORPHA:564
HP:0000309	Abnormal midface morphology	80184	CEP290	ORPHA:564
HP:0000309	Abnormal midface morphology	51259	TMEM216	ORPHA:564
HP:0000309	Abnormal midface morphology	57545	CC2D2A	ORPHA:564
HP:0000309	Abnormal midface morphology	79583	TMEM231	ORPHA:564
HP:0000309	Abnormal midface morphology	91147	TMEM67	ORPHA:564
HP:0000309	Abnormal midface morphology	79770	TXNDC15	ORPHA:564
HP:0000309	Abnormal midface morphology	27077	B9D1	ORPHA:564
HP:0000309	Abnormal midface morphology	23322	RPGRIP1L	ORPHA:564
HP:0000309	Abnormal midface morphology	54903	MKS1	ORPHA:564
HP:0000309	Abnormal midface morphology	65062	TMEM237	ORPHA:564
HP:0000309	Abnormal midface morphology	171023	ASXL1	ORPHA:97297
HP:0000309	Abnormal midface morphology	3977	LIFR	OMIM:601559
HP:0000309	Abnormal midface morphology	5813	PURA	ORPHA:438216
HP:0000309	Abnormal midface morphology	4338	MOCS2	OMIM:252160
HP:0000309	Abnormal midface morphology	2783	GNB2	OMIM:619503
HP:0000309	Abnormal midface morphology	79633	FAT4	OMIM:615546
HP:0000309	Abnormal midface morphology	5723	PSPH	ORPHA:79350
HP:0000309	Abnormal midface morphology	3425	IDUA	OMIM:607014
HP:0000309	Abnormal midface morphology	3425	IDUA	OMIM:607016
HP:0000309	Abnormal midface morphology	3425	IDUA	ORPHA:93473
HP:0000309	Abnormal midface morphology	9244	CRLF1	OMIM:272430
HP:0000309	Abnormal midface morphology	9244	CRLF1	ORPHA:1545
HP:0000309	Abnormal midface morphology	55975	KLHL7	OMIM:617055
HP:0000309	Abnormal midface morphology	57498	KIDINS220	OMIM:617296
HP:0000309	Abnormal midface morphology	1182	CLCN3	OMIM:619512
HP:0000309	Abnormal midface morphology	2200	FBN1	OMIM:614185
HP:0000309	Abnormal midface morphology	6711	SPTBN1	OMIM:619475
HP:0000309	Abnormal midface morphology	4337	MOCS1	OMIM:252150
HP:0000309	Abnormal midface morphology	5290	PIK3CA	ORPHA:60040
HP:0000309	Abnormal midface morphology	51520	LARS1	OMIM:615438
HP:0000309	Abnormal midface morphology	9091	PIGQ	OMIM:618548
HP:0000309	Abnormal midface morphology	1836	SLC26A2	ORPHA:628
HP:0000309	Abnormal midface morphology	6925	TCF4	ORPHA:2896
HP:0000309	Abnormal midface morphology	6925	TCF4	OMIM:610954
HP:0000309	Abnormal midface morphology	388015	RTL1	ORPHA:96184
HP:0000309	Abnormal midface morphology	8788	DLK1	ORPHA:96184
HP:0000309	Abnormal midface morphology	55384	MEG3	ORPHA:96184
HP:0000309	Abnormal midface morphology	55027	HEATR3	OMIM:620072
HP:0000309	Abnormal midface morphology	79718	TBL1XR1	OMIM:602342
HP:0000309	Abnormal midface morphology	6452	SH3BP2	ORPHA:184
HP:0000309	Abnormal midface morphology	4893	NRAS	OMIM:137550
HP:0000309	Abnormal midface morphology	23556	PIGN	ORPHA:280633
HP:0000309	Abnormal midface morphology	285590	SH3PXD2B	OMIM:249420
HP:0000309	Abnormal midface morphology	51124	IER3IP1	OMIM:614231
HP:0000309	Abnormal midface morphology	23067	SETD1B	OMIM:619000
HP:0000309	Abnormal midface morphology	51098	IFT52	OMIM:617102
HP:0000309	Abnormal midface morphology	3832	KIF11	ORPHA:2526
HP:0000309	Abnormal midface morphology	55704	CCDC88A	OMIM:617507
HP:0000309	Abnormal midface morphology	6901	TAFAZZIN	OMIM:302060
HP:0000309	Abnormal midface morphology	84919	PPP1R15B	OMIM:616817
HP:0000309	Abnormal midface morphology	84919	PPP1R15B	ORPHA:391408
HP:0000309	Abnormal midface morphology	93587	TRMT10A	ORPHA:391408
HP:0000309	Abnormal midface morphology	51322	WAC	ORPHA:284169
HP:0000309	Abnormal midface morphology	51322	WAC	OMIM:616708
HP:0000309	Abnormal midface morphology	7030	TFE3	OMIM:301066
HP:0000309	Abnormal midface morphology	9895	TECPR2	ORPHA:320385
HP:0000309	Abnormal midface morphology	23162	MAPK8IP3	OMIM:618443
HP:0000309	Abnormal midface morphology	7355	SLC35A2	OMIM:300896
HP:0000309	Abnormal midface morphology	259232	NALCN	OMIM:616266
HP:0000309	Abnormal midface morphology	23483	TGDS	OMIM:616145
HP:0000309	Abnormal midface morphology	23483	TGDS	ORPHA:1388
HP:0000309	Abnormal midface morphology	8565	YARS1	OMIM:619418
HP:0000309	Abnormal midface morphology	5116	PCNT	ORPHA:2637
HP:0000309	Abnormal midface morphology	1968	EIF2S3	ORPHA:85282
HP:0000309	Abnormal midface morphology	9757	KMT2B	OMIM:619934
HP:0000309	Abnormal midface morphology	3339	HSPG2	OMIM:255800
HP:0000309	Abnormal midface morphology	3339	HSPG2	ORPHA:800
HP:0000309	Abnormal midface morphology	8813	DPM1	ORPHA:79322
HP:0000309	Abnormal midface morphology	71	ACTG1	ORPHA:2995
HP:0000309	Abnormal midface morphology	60	ACTB	ORPHA:2995
HP:0000309	Abnormal midface morphology	23529	CLCF1	ORPHA:1545
HP:0000309	Abnormal midface morphology	178	AGL	ORPHA:366
HP:0000309	Abnormal midface morphology	1387	CREBBP	OMIM:618332
HP:0000309	Abnormal midface morphology	2033	EP300	OMIM:618333
HP:0000309	Abnormal midface morphology	1917	EEF1A2	OMIM:616393
HP:0000309	Abnormal midface morphology	9742	IFT140	OMIM:266920
HP:0000309	Abnormal midface morphology	1806	DPYD	ORPHA:293948
HP:0000309	Abnormal midface morphology	26173	INTS1	OMIM:618571
HP:0000309	Abnormal midface morphology	57728	WDR19	OMIM:614378
HP:0000309	Abnormal midface morphology	57728	WDR19	OMIM:614376
HP:0000309	Abnormal midface morphology	55315	SLC29A3	ORPHA:168569
HP:0000309	Abnormal midface morphology	1642	DDB1	OMIM:619426
HP:0000309	Abnormal midface morphology	6664	SOX11	OMIM:615866
HP:0000309	Abnormal midface morphology	27445	PCLO	OMIM:608027
HP:0000309	Abnormal midface morphology	6905	TBCE	ORPHA:93324
HP:0000309	Abnormal midface morphology	4054	LTBP3	OMIM:617809
HP:0000309	Abnormal midface morphology	10262	SF3B4	OMIM:154400
HP:0000309	Abnormal midface morphology	8367	H4C5	OMIM:619950
HP:0000309	Abnormal midface morphology	8294	H4C9	OMIM:619951
HP:0000309	Abnormal midface morphology	2138	EYA1	OMIM:113650
HP:0000309	Abnormal midface morphology	2138	EYA1	ORPHA:107
HP:0000309	Abnormal midface morphology	2138	EYA1	ORPHA:52429
HP:0000309	Abnormal midface morphology	6495	SIX1	OMIM:113650
HP:0000309	Abnormal midface morphology	6495	SIX1	ORPHA:107
HP:0000309	Abnormal midface morphology	6495	SIX1	ORPHA:52429
HP:0000309	Abnormal midface morphology	6495	SIX1	OMIM:608389
HP:0000309	Abnormal midface morphology	2132	EXT2	OMIM:616682
HP:0000309	Abnormal midface morphology	2335	FN1	ORPHA:93315
HP:0000309	Abnormal midface morphology	1280	COL2A1	ORPHA:93315
HP:0000309	Abnormal midface morphology	2972	BRF1	OMIM:616202
HP:0000309	Abnormal midface morphology	145173	B3GLCT	ORPHA:709
HP:0000309	Abnormal midface morphology	10992	SF3B2	OMIM:164210
HP:0000309	Abnormal midface morphology	6299	SALL1	OMIM:107480
HP:0000309	Abnormal midface morphology	6299	SALL1	ORPHA:857
HP:0000309	Abnormal midface morphology	374654	KIF7	OMIM:200990
HP:0000309	Abnormal midface morphology	89910	UBE3B	OMIM:244450
HP:0000309	Abnormal midface morphology	89910	UBE3B	ORPHA:2707
HP:0000309	Abnormal midface morphology	8085	KMT2D	ORPHA:2322
HP:0000309	Abnormal midface morphology	7403	KDM6A	ORPHA:2322
HP:0000309	Abnormal midface morphology	4953	ODC1	ORPHA:544488
HP:0000309	Abnormal midface morphology	55636	CHD7	ORPHA:138
HP:0000309	Abnormal midface morphology	9723	SEMA3E	ORPHA:138
HP:0000309	Abnormal midface morphology	10735	STAG2	OMIM:301022
HP:0000309	Abnormal midface morphology	57492	ARID1B	OMIM:135900
HP:0000309	Abnormal midface morphology	54496	PRMT7	OMIM:617157
HP:0000309	Abnormal midface morphology	54496	PRMT7	ORPHA:464288
HP:0000309	Abnormal midface morphology	10265	IRX5	OMIM:611174
HP:0000309	Abnormal midface morphology	2260	FGFR1	OMIM:190440
HP:0000309	Abnormal midface morphology	23389	MED13L	ORPHA:369891
HP:0000309	Abnormal midface morphology	8260	NAA10	ORPHA:568
HP:0000309	Abnormal midface morphology	54880	BCOR	ORPHA:568
HP:0000309	Abnormal midface morphology	10943	MSL3	OMIM:301032
HP:0000309	Abnormal midface morphology	1501	CTNND2	ORPHA:281
HP:0000309	Abnormal midface morphology	9037	SEMA5A	ORPHA:281
HP:0000309	Abnormal midface morphology	4041	LRP5	ORPHA:2788
HP:0000309	Abnormal midface morphology	51729	WBP11	OMIM:619227
HP:0000309	Abnormal midface morphology	147912	SIX5	OMIM:610896
HP:0000309	Abnormal midface morphology	147912	SIX5	ORPHA:107
HP:0000309	Abnormal midface morphology	1906	EDN1	ORPHA:137888
HP:0000309	Abnormal midface morphology	5332	PLCB4	ORPHA:137888
HP:0000309	Abnormal midface morphology	2773	GNAI3	ORPHA:137888
HP:0000309	Abnormal midface morphology	2773	GNAI3	OMIM:602483
HP:0000309	Abnormal midface morphology	6638	SNRPN	ORPHA:177907
HP:0000309	Abnormal midface morphology	53834	FGFRL1	OMIM:194190
HP:0000309	Abnormal midface morphology	1487	CTBP1	OMIM:194190
HP:0000309	Abnormal midface morphology	3954	LETM1	OMIM:194190
HP:0000309	Abnormal midface morphology	7468	NSD2	OMIM:194190
HP:0000309	Abnormal midface morphology	10815	CPLX1	OMIM:194190
HP:0000309	Abnormal midface morphology	9343	EFTUD2	OMIM:610536
HP:0000309	Abnormal midface morphology	9343	EFTUD2	ORPHA:79113
HP:0000309	Abnormal midface morphology	57167	SALL4	ORPHA:233
HP:0000309	Abnormal midface morphology	9935	MAFB	ORPHA:233
HP:0000309	Abnormal midface morphology	1123	CHN1	ORPHA:233
HP:0000309	Abnormal midface morphology	3192	HNRNPU	ORPHA:238769
HP:0000309	Abnormal midface morphology	157680	VPS13B	ORPHA:193
HP:0000309	Abnormal midface morphology	8092	ALX1	ORPHA:306542
HP:0000309	Abnormal midface morphology	94005	PIGS	OMIM:618143
HP:0000309	Abnormal midface morphology	1909	EDNRA	OMIM:616367
HP:0000309	Abnormal midface morphology	8364	H4C3	OMIM:619758
HP:0000309	Abnormal midface morphology	10907	TXNL4A	OMIM:608572
HP:0000309	Abnormal midface morphology	79759	ZNF668	OMIM:620194
HP:0000309	Abnormal midface morphology	84172	POLR1B	ORPHA:861
HP:0000309	Abnormal midface morphology	9533	POLR1C	ORPHA:861
HP:0000309	Abnormal midface morphology	51082	POLR1D	ORPHA:861
HP:0000309	Abnormal midface morphology	6949	TCOF1	ORPHA:861
HP:0000309	Abnormal midface morphology	6949	TCOF1	OMIM:154500
HP:0000309	Abnormal midface morphology	55617	TASP1	OMIM:618950
HP:0000309	Abnormal midface morphology	29123	ANKRD11	ORPHA:261250
HP:0000309	Abnormal midface morphology	79971	WLS	OMIM:619648
HP:0000309	Abnormal midface morphology	51339	DACT1	ORPHA:857
HP:0000309	Abnormal midface morphology	54916	TMEM260	OMIM:617478
HP:0000309	Abnormal midface morphology	374969	SVBP	OMIM:618569
HP:0000309	Abnormal midface morphology	2317	FLNB	OMIM:272460
HP:0000309	Abnormal midface morphology	9897	WASHC5	ORPHA:7
HP:0000309	Abnormal midface morphology	28952	CCDC22	ORPHA:7
HP:0000309	Abnormal midface morphology	257	ALX3	OMIM:136760
HP:0000309	Abnormal midface morphology	257	ALX3	ORPHA:391474
HP:0000309	Abnormal midface morphology	6595	SMARCA2	OMIM:601358
HP:0000309	Abnormal midface morphology	3845	KRAS	OMIM:600268
HP:0000309	Abnormal midface morphology	2719	GPC3	OMIM:312870
HP:0000309	Abnormal midface morphology	2239	GPC4	OMIM:312870
HP:0000309	Abnormal midface morphology	30008	EFEMP2	ORPHA:90349
HP:0000309	Abnormal midface morphology	10516	FBLN5	ORPHA:90349
HP:0000309	Abnormal midface morphology	23522	KAT6B	ORPHA:3047
HP:0000309	Abnormal midface morphology	6850	SYK	OMIM:619381
HP:0000309	Abnormal midface morphology	3098	HK1	OMIM:618547
HP:0000309	Abnormal midface morphology	80036	TRPM3	OMIM:620224
HP:0000309	Abnormal midface morphology	286	ANK1	ORPHA:251066
HP:0000309	Abnormal midface morphology	145258	GSC	OMIM:602471
HP:0000309	Abnormal midface morphology	2702	GJA5	ORPHA:3303
HP:0000309	Abnormal midface morphology	1482	NKX2-5	ORPHA:3303
HP:0000309	Abnormal midface morphology	1482	NKX2-5	OMIM:187500
HP:0000309	Abnormal midface morphology	137814	NKX2-6	ORPHA:3303
HP:0000309	Abnormal midface morphology	23414	ZFPM2	ORPHA:3303
HP:0000309	Abnormal midface morphology	23414	ZFPM2	OMIM:187500
HP:0000309	Abnormal midface morphology	2626	GATA4	ORPHA:3303
HP:0000309	Abnormal midface morphology	2626	GATA4	OMIM:187500
HP:0000309	Abnormal midface morphology	3791	KDR	ORPHA:3303
HP:0000309	Abnormal midface morphology	2627	GATA6	ORPHA:3303
HP:0000309	Abnormal midface morphology	2627	GATA6	OMIM:187500
HP:0000309	Abnormal midface morphology	2657	GDF1	ORPHA:3303
HP:0000309	Abnormal midface morphology	182	JAG1	ORPHA:3303
HP:0000309	Abnormal midface morphology	182	JAG1	OMIM:187500
HP:0000309	Abnormal midface morphology	6899	TBX1	ORPHA:3303
HP:0000309	Abnormal midface morphology	6899	TBX1	OMIM:187500
HP:0000309	Abnormal midface morphology	140628	GATA5	ORPHA:3303
HP:0000309	Abnormal midface morphology	2324	FLT4	ORPHA:3303
HP:0000309	Abnormal midface morphology	10370	CITED2	ORPHA:3303
HP:0000309	Abnormal midface morphology	3190	HNRNPK	ORPHA:453504
HP:0000309	Abnormal midface morphology	3190	HNRNPK	ORPHA:352665
HP:0000309	Abnormal midface morphology	23405	DICER1	OMIM:618272
HP:0000309	Abnormal midface morphology	51715	RAB23	OMIM:201000
HP:0000309	Abnormal midface morphology	27031	NPHP3	OMIM:208540
HP:0000309	Abnormal midface morphology	5075	PAX1	OMIM:615560
HP:0000309	Abnormal midface morphology	5075	PAX1	ORPHA:2792
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:123790
HP:0000309	Abnormal midface morphology	5500	PPP1CB	OMIM:617506
HP:0000309	Abnormal midface morphology	4286	MITF	OMIM:617306
HP:0000309	Abnormal midface morphology	23384	SPECC1L	ORPHA:1519
HP:0000309	Abnormal midface morphology	23384	SPECC1L	OMIM:145420
HP:0000309	Abnormal midface morphology	9968	MED12	OMIM:301068
HP:0000309	Abnormal midface morphology	2316	FLNA	ORPHA:88630
HP:0000309	Abnormal midface morphology	7994	KAT6A	ORPHA:457193
HP:0000309	Abnormal midface morphology	3759	KCNJ2	OMIM:170390
HP:0000309	Abnormal midface morphology	9451	EIF2AK3	OMIM:226980
HP:0000309	Abnormal midface morphology	4281	MID1	ORPHA:2745
HP:0000309	Abnormal midface morphology	7319	UBE2A	ORPHA:163956
HP:0000309	Abnormal midface morphology	64132	XYLT2	ORPHA:85194
HP:0000309	Abnormal midface morphology	58499	ZNF462	OMIM:618619
HP:0000309	Abnormal midface morphology	7020	TFAP2A	OMIM:113620
HP:0000309	Abnormal midface morphology	7020	TFAP2A	ORPHA:1297
HP:0000309	Abnormal midface morphology	4035	LRP1	OMIM:604093
HP:0000309	Abnormal midface morphology	857	CAV1	OMIM:606721
HP:0000309	Abnormal midface morphology	10382	TUBB4A	ORPHA:98805
HP:0000309	Abnormal midface morphology	10382	TUBB4A	OMIM:128101
HP:0000309	Abnormal midface morphology	55768	NGLY1	OMIM:615273
HP:0000309	Abnormal midface morphology	165	AEBP1	ORPHA:536532
HP:0000309	Abnormal midface morphology	5702	PSMC3	OMIM:619354
HP:0000309	Abnormal midface morphology	4683	NBN	OMIM:251260
HP:0000309	Abnormal midface morphology	81887	LAS1L	ORPHA:3459
HP:0000309	Abnormal midface morphology	55869	HDAC8	ORPHA:3459
HP:0000309	Abnormal midface morphology	9150	CTDP1	OMIM:604168
HP:0000309	Abnormal midface morphology	9150	CTDP1	ORPHA:48431
HP:0000309	Abnormal midface morphology	286053	NSMCE2	ORPHA:436182
HP:0000309	Abnormal midface morphology	7518	XRCC4	ORPHA:436182
HP:0000309	Abnormal midface morphology	3043	HBB	ORPHA:231226
HP:0000309	Abnormal midface morphology	3043	HBB	ORPHA:231214
HP:0000309	Abnormal midface morphology	5295	PIK3R1	ORPHA:3163
HP:0000309	Abnormal midface morphology	81031	SLC2A10	ORPHA:3342
HP:0000309	Abnormal midface morphology	23019	CNOT1	ORPHA:556955
HP:0000309	Abnormal midface morphology	23019	CNOT1	OMIM:618500
HP:0000309	Abnormal midface morphology	51594	NBAS	OMIM:614800
HP:0000309	Abnormal midface morphology	6804	STX1A	ORPHA:904
HP:0000309	Abnormal midface morphology	7461	CLIP2	ORPHA:904
HP:0000309	Abnormal midface morphology	84277	DNAJC30	ORPHA:904
HP:0000309	Abnormal midface morphology	8468	FKBP6	ORPHA:904
HP:0000309	Abnormal midface morphology	5982	RFC2	ORPHA:904
HP:0000309	Abnormal midface morphology	2969	GTF2I	ORPHA:904
HP:0000309	Abnormal midface morphology	3984	LIMK1	ORPHA:904
HP:0000309	Abnormal midface morphology	9569	GTF2IRD1	ORPHA:904
HP:0000309	Abnormal midface morphology	155382	VPS37D	ORPHA:904
HP:0000309	Abnormal midface morphology	155368	METTL27	ORPHA:904
HP:0000309	Abnormal midface morphology	114049	BUD23	ORPHA:904
HP:0000309	Abnormal midface morphology	7458	EIF4H	ORPHA:904
HP:0000309	Abnormal midface morphology	84163	GTF2IRD2	ORPHA:904
HP:0000309	Abnormal midface morphology	9275	BCL7B	ORPHA:904
HP:0000309	Abnormal midface morphology	26608	TBL2	ORPHA:904
HP:0000309	Abnormal midface morphology	653361	NCF1	ORPHA:904
HP:0000309	Abnormal midface morphology	135886	TMEM270	ORPHA:904
HP:0000309	Abnormal midface morphology	51085	MLXIPL	ORPHA:904
HP:0000309	Abnormal midface morphology	9031	BAZ1B	ORPHA:904
HP:0000309	Abnormal midface morphology	2006	ELN	ORPHA:904
HP:0000309	Abnormal midface morphology	5604	MAP2K1	ORPHA:1340
HP:0000309	Abnormal midface morphology	5605	MAP2K2	ORPHA:1340
HP:0000309	Abnormal midface morphology	673	BRAF	ORPHA:1340
HP:0000309	Abnormal midface morphology	8481	OFD1	ORPHA:2750
HP:0000309	Abnormal midface morphology	5184	PEPD	ORPHA:742
HP:0000309	Abnormal midface morphology	117581	TWIST2	ORPHA:920
HP:0000309	Abnormal midface morphology	117581	TWIST2	OMIM:200110
HP:0000309	Abnormal midface morphology	1301	COL11A1	ORPHA:560
HP:0000309	Abnormal midface morphology	860	RUNX2	ORPHA:1452
HP:0000309	Abnormal midface morphology	5818	NECTIN1	ORPHA:3253
HP:0000309	Abnormal midface morphology	4853	NOTCH2	ORPHA:955
HP:0000309	Abnormal midface morphology	1183	CLCN4	OMIM:300114
HP:0000309	Abnormal midface morphology	1183	CLCN4	ORPHA:485350
HP:0000309	Abnormal midface morphology	9871	SEC24D	ORPHA:2050
HP:0000309	Abnormal midface morphology	9871	SEC24D	OMIM:616294
HP:0000309	Abnormal midface morphology	5034	P4HB	ORPHA:2050
HP:0000309	Abnormal midface morphology	5034	P4HB	OMIM:112240
HP:0000309	Abnormal midface morphology	28981	IFT81	OMIM:617895
HP:0000309	Abnormal midface morphology	5728	PTEN	OMIM:605309
HP:0000309	Abnormal midface morphology	1355	COX15	OMIM:615119
HP:0000309	Abnormal midface morphology	83987	CCDC8	ORPHA:2616
HP:0000309	Abnormal midface morphology	83987	CCDC8	OMIM:614205
HP:0000309	Abnormal midface morphology	84942	WDR73	OMIM:251300
HP:0000309	Abnormal midface morphology	114803	MYSM1	ORPHA:508542
HP:0000309	Abnormal midface morphology	114803	MYSM1	OMIM:618116
HP:0000309	Abnormal midface morphology	3481	IGF2	ORPHA:231144
HP:0000309	Abnormal midface morphology	3481	IGF2	OMIM:130650
HP:0000309	Abnormal midface morphology	283120	H19	ORPHA:231144
HP:0000309	Abnormal midface morphology	8443	GNPAT	OMIM:222765
HP:0000309	Abnormal midface morphology	3020	H3-3A	OMIM:619720
HP:0000309	Abnormal midface morphology	3021	H3-3B	OMIM:619721
HP:0000309	Abnormal midface morphology	55159	RFWD3	OMIM:617784
HP:0000309	Abnormal midface morphology	55790	CSGALNACT1	OMIM:618870
HP:0000309	Abnormal midface morphology	22858	CILK1	OMIM:612651
HP:0000309	Abnormal midface morphology	10730	YME1L1	OMIM:617302
HP:0000309	Abnormal midface morphology	2314	FLII	ORPHA:819
HP:0000309	Abnormal midface morphology	23096	IQSEC2	ORPHA:819
HP:0000309	Abnormal midface morphology	10522	DEAF1	ORPHA:819
HP:0000309	Abnormal midface morphology	6662	SOX9	OMIM:114290
HP:0000309	Abnormal midface morphology	271	AMPD2	OMIM:615809
HP:0000309	Abnormal midface morphology	9382	COG1	OMIM:611209
HP:0000309	Abnormal midface morphology	54	ACP5	OMIM:607944
HP:0000309	Abnormal midface morphology	54	ACP5	ORPHA:1855
HP:0000309	Abnormal midface morphology	56992	KIF15	ORPHA:261323
HP:0000309	Abnormal midface morphology	816	CAMK2B	OMIM:617799
HP:0000309	Abnormal midface morphology	64359	NXN	OMIM:618529
HP:0000309	Abnormal midface morphology	64359	NXN	ORPHA:1507
HP:0000309	Abnormal midface morphology	23184	MESD	OMIM:618644
HP:0000309	Abnormal midface morphology	79087	ALG12	OMIM:607143
HP:0000309	Abnormal midface morphology	79087	ALG12	ORPHA:79324
HP:0000309	Abnormal midface morphology	283989	TSEN54	ORPHA:166063
HP:0000309	Abnormal midface morphology	23347	SMCHD1	OMIM:603457
HP:0000309	Abnormal midface morphology	652	BMP4	OMIM:607932
HP:0000309	Abnormal midface morphology	1105	CHD1	OMIM:617682
HP:0000309	Abnormal midface morphology	1105	CHD1	ORPHA:529965
HP:0000309	Abnormal midface morphology	4330	MN1	OMIM:618774
HP:0000309	Abnormal midface morphology	57178	ZMIZ1	OMIM:618659
HP:0000309	Abnormal midface morphology	1954	MEGF8	OMIM:614976
HP:0000309	Abnormal midface morphology	26057	ANKRD17	OMIM:619504
HP:0000309	Abnormal midface morphology	6234	RPS28	OMIM:606164
HP:0000309	Abnormal midface morphology	2615	LRRC32	OMIM:619074
HP:0000309	Abnormal midface morphology	11285	B4GALT7	OMIM:130070
HP:0000309	Abnormal midface morphology	5311	PKD2	OMIM:613095
HP:0000309	Abnormal midface morphology	85301	COL27A1	OMIM:615155
HP:0000309	Abnormal midface morphology	3590	IL11RA	OMIM:614188
HP:0000309	Abnormal midface morphology	5626	PROP1	ORPHA:226307
HP:0000309	Abnormal midface morphology	89884	LHX4	ORPHA:226307
HP:0000309	Abnormal midface morphology	8022	LHX3	ORPHA:226307
HP:0000309	Abnormal midface morphology	8820	HESX1	ORPHA:226307
HP:0000309	Abnormal midface morphology	1857	DVL3	ORPHA:3107
HP:0000309	Abnormal midface morphology	1857	DVL3	OMIM:616894
HP:0000309	Abnormal midface morphology	55699	IARS2	OMIM:616007
HP:0000309	Abnormal midface morphology	3211	HOXB1	OMIM:614744
HP:0000309	Abnormal midface morphology	5590	PRKCZ	ORPHA:1606
HP:0000309	Abnormal midface morphology	2563	GABRD	ORPHA:1606
HP:0000309	Abnormal midface morphology	23013	SPEN	ORPHA:1606
HP:0000309	Abnormal midface morphology	8510	MMP23B	ORPHA:1606
HP:0000309	Abnormal midface morphology	7798	LUZP1	ORPHA:1606
HP:0000309	Abnormal midface morphology	6497	SKI	ORPHA:1606
HP:0000309	Abnormal midface morphology	10630	PDPN	ORPHA:1606
HP:0000309	Abnormal midface morphology	10277	UBE4B	ORPHA:1606
HP:0000309	Abnormal midface morphology	8514	KCNAB2	ORPHA:1606
HP:0000309	Abnormal midface morphology	473	RERE	ORPHA:1606
HP:0000309	Abnormal midface morphology	63976	PRDM16	ORPHA:1606
HP:0000309	Abnormal midface morphology	54897	CASZ1	ORPHA:1606
HP:0000309	Abnormal midface morphology	5727	PTCH1	OMIM:610828
HP:0000309	Abnormal midface morphology	51611	DPH5	OMIM:620070
HP:0000309	Abnormal midface morphology	5700	PSMC1	OMIM:620071
HP:0000309	Abnormal midface morphology	58508	KMT2C	ORPHA:261652
HP:0000309	Abnormal midface morphology	58508	KMT2C	OMIM:617768
HP:0000309	Abnormal midface morphology	5159	PDGFRB	OMIM:601812
HP:0000309	Abnormal midface morphology	53335	BCL11A	OMIM:617101
HP:0000309	Abnormal midface morphology	6942	TCF20	OMIM:618430
HP:0000309	Abnormal midface morphology	4285	MIPEP	OMIM:617228
HP:0000309	Abnormal midface morphology	9158	FIBP	OMIM:617107
HP:0000309	Abnormal midface morphology	9158	FIBP	ORPHA:500095
HP:0000309	Abnormal midface morphology	4784	NFIX	OMIM:614753
HP:0000309	Abnormal midface morphology	4784	NFIX	OMIM:602535
HP:0000309	Abnormal midface morphology	54499	TMCO1	ORPHA:1394
HP:0000309	Abnormal midface morphology	5354	PLP1	ORPHA:280229
HP:0000309	Abnormal midface morphology	3930	LBR	OMIM:215140
HP:0000309	Abnormal midface morphology	3930	LBR	OMIM:618019
HP:0000309	Abnormal midface morphology	3930	LBR	ORPHA:1426
HP:0000309	Abnormal midface morphology	51651	PTRH2	OMIM:616263
HP:0000309	Abnormal midface morphology	1028	CDKN1C	OMIM:130650
HP:0000309	Abnormal midface morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000309	Abnormal midface morphology	3784	KCNQ1	OMIM:130650
HP:0000309	Abnormal midface morphology	57479	PRR12	OMIM:619539
HP:0000309	Abnormal midface morphology	4087	SMAD2	OMIM:619657
HP:0000309	Abnormal midface morphology	1107	CHD3	OMIM:618205
HP:0000309	Abnormal midface morphology	25970	SH2B1	ORPHA:261197
HP:0000309	Abnormal midface morphology	6261	RYR1	OMIM:619542
HP:0000309	Abnormal midface morphology	56160	NSMCE3	OMIM:617241
HP:0000309	Abnormal midface morphology	5881	RAC3	OMIM:618577
HP:0000309	Abnormal midface morphology	3658	IREB2	OMIM:618451
HP:0000309	Abnormal midface morphology	51053	GMNN	OMIM:616835
HP:0000309	Abnormal midface morphology	8216	LZTR1	OMIM:605275
HP:0000309	Abnormal midface morphology	8216	LZTR1	ORPHA:648
HP:0000309	Abnormal midface morphology	3720	JARID2	OMIM:620098
HP:0000309	Abnormal midface morphology	6938	TCF12	ORPHA:35099
HP:0000309	Abnormal midface morphology	7545	ZIC1	ORPHA:35099
HP:0000309	Abnormal midface morphology	8243	SMC1A	OMIM:301044
HP:0000309	Abnormal midface morphology	2290	FOXG1	OMIM:613454
HP:0000309	Abnormal midface morphology	23394	ADNP	OMIM:615873
HP:0000309	Abnormal midface morphology	55628	ZNF407	OMIM:619557
HP:0000309	Abnormal midface morphology	2690	GHR	ORPHA:314802
HP:0000309	Abnormal midface morphology	79650	USB1	OMIM:604173
HP:0000309	Abnormal midface morphology	55593	OTUD5	OMIM:301056
HP:0000309	Abnormal midface morphology	5308	PITX2	ORPHA:782
HP:0000309	Abnormal midface morphology	221496	LEMD2	OMIM:619322
HP:0000309	Abnormal midface morphology	57520	HECW2	OMIM:617268
HP:0000309	Abnormal midface morphology	3313	HSPA9	OMIM:616854
HP:0000309	Abnormal midface morphology	2902	GRIN1	OMIM:617820
HP:0000309	Abnormal midface morphology	998	CDC42	OMIM:616737
HP:0000309	Abnormal midface morphology	998	CDC42	ORPHA:487796
HP:0000309	Abnormal midface morphology	23097	CDK19	OMIM:618916
HP:0000309	Abnormal midface morphology	84679	SLC9A7	OMIM:301024
HP:0000309	Abnormal midface morphology	10940	POP1	OMIM:617396
HP:0000309	Abnormal midface morphology	29940	DSE	OMIM:615539
HP:0000309	Abnormal midface morphology	54539	NDUFB11	ORPHA:2556
HP:0000309	Abnormal midface morphology	1349	COX7B	ORPHA:2556
HP:0000309	Abnormal midface morphology	3052	HCCS	ORPHA:2556
HP:0000309	Abnormal midface morphology	63931	MRPS14	OMIM:618378
HP:0000309	Abnormal midface morphology	5718	PSMD12	ORPHA:529962
HP:0000309	Abnormal midface morphology	2186	BPTF	ORPHA:529962
HP:0000309	Abnormal midface morphology	11342	RNF13	OMIM:618379
HP:0000309	Abnormal midface morphology	11342	RNF13	ORPHA:544503
HP:0000309	Abnormal midface morphology	79576	NKAP	OMIM:301039
HP:0000309	Abnormal midface morphology	3188	HNRNPH2	OMIM:300986
HP:0000309	Abnormal midface morphology	2475	MTOR	OMIM:616638
HP:0000309	Abnormal midface morphology	80781	COL18A1	ORPHA:1571
HP:0000309	Abnormal midface morphology	80781	COL18A1	OMIM:267750
HP:0000309	Abnormal midface morphology	5062	PAK2	ORPHA:1571
HP:0000309	Abnormal midface morphology	6304	SATB1	OMIM:619229
HP:0000309	Abnormal midface morphology	55644	OSGEP	OMIM:617729
HP:0000309	Abnormal midface morphology	10664	CTCF	ORPHA:363611
HP:0000309	Abnormal midface morphology	57003	CCDC47	OMIM:618268
HP:0000309	Abnormal midface morphology	55180	LINS1	OMIM:614340
HP:0000309	Abnormal midface morphology	29957	SLC25A24	OMIM:612289
HP:0000309	Abnormal midface morphology	8936	WASF1	OMIM:618707
HP:0000309	Abnormal midface morphology	7204	TRIO	OMIM:617061
HP:0000309	Abnormal midface morphology	83737	ITCH	OMIM:613385
HP:0000309	Abnormal midface morphology	83737	ITCH	ORPHA:228426
HP:0000309	Abnormal midface morphology	10220	GDF11	OMIM:619122
HP:0000309	Abnormal midface morphology	2893	GRIA4	OMIM:617864
HP:0000309	Abnormal midface morphology	153241	CEP120	OMIM:616300
HP:0000309	Abnormal midface morphology	5528	PPP2R5D	ORPHA:457279
HP:0000309	Abnormal midface morphology	1748	DLX4	OMIM:616788
HP:0000309	Abnormal midface morphology	8815	BANF1	OMIM:614008
HP:0000309	Abnormal midface morphology	22800	RRAS2	ORPHA:648
HP:0000309	Abnormal midface morphology	867	CBL	ORPHA:648
HP:0000309	Abnormal midface morphology	6016	RIT1	ORPHA:648
HP:0000309	Abnormal midface morphology	6237	RRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	5894	RAF1	ORPHA:648
HP:0000309	Abnormal midface morphology	22808	MRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	200734	SPRED2	ORPHA:648
HP:0000309	Abnormal midface morphology	6654	SOS1	ORPHA:648
HP:0000309	Abnormal midface morphology	6655	SOS2	ORPHA:648
HP:0000309	Abnormal midface morphology	5781	PTPN11	ORPHA:648
HP:0000309	Abnormal midface morphology	5922	RASA2	ORPHA:648
HP:0000309	Abnormal midface morphology	23299	BICD2	OMIM:618291
HP:0000309	Abnormal midface morphology	11011	TLK2	OMIM:618050
HP:0000309	Abnormal midface morphology	1513	CTSK	ORPHA:763
HP:0000309	Abnormal midface morphology	9469	CHST3	OMIM:245600
HP:0000309	Abnormal midface morphology	26229	B3GAT3	OMIM:245600
HP:0000309	Abnormal midface morphology	90121	TSR2	OMIM:300946
HP:0000309	Abnormal midface morphology	57647	DHX37	OMIM:618731
HP:0000309	Abnormal midface morphology	5566	PRKACA	OMIM:619142
HP:0000309	Abnormal midface morphology	7043	TGFB3	OMIM:615582
HP:0000309	Abnormal midface morphology	2036	EPB41L1	OMIM:614257
HP:0000309	Abnormal midface morphology	10844	TUBGCP2	OMIM:618737
HP:0000309	Abnormal midface morphology	406932	MIR140	OMIM:618618
HP:0000309	Abnormal midface morphology	25871	NEPRO	OMIM:618853
HP:0000309	Abnormal midface morphology	84168	ANTXR1	ORPHA:2067
HP:0000309	Abnormal midface morphology	246329	STAC3	OMIM:255995
HP:0000309	Abnormal midface morphology	760	CA2	ORPHA:2785
HP:0000309	Abnormal midface morphology	92335	STRADA	OMIM:611087
HP:0000309	Abnormal midface morphology	23111	SPART	OMIM:275900
HP:0000309	Abnormal midface morphology	25885	POLR1A	OMIM:616462
HP:0000309	Abnormal midface morphology	4052	LTBP1	OMIM:619451
HP:0000309	Abnormal midface morphology	26053	AUTS2	ORPHA:352490
HP:0000309	Abnormal midface morphology	340665	CYP26C1	ORPHA:398189
HP:0004920	Phenylpyruvic acidemia	5053	PAH	OMIM:261600
HP:0004923	Hyperphenylalaninemia	5053	PAH	OMIM:261600
HP:0004923	Hyperphenylalaninemia	5053	PAH	ORPHA:79254
HP:0004923	Hyperphenylalaninemia	5092	PCBD1	OMIM:264070
HP:0004923	Hyperphenylalaninemia	5092	PCBD1	ORPHA:1578
HP:0004923	Hyperphenylalaninemia	2643	GCH1	OMIM:233910
HP:0004923	Hyperphenylalaninemia	5805	PTS	OMIM:261640
HP:0004923	Hyperphenylalaninemia	5860	QDPR	OMIM:261630
HP:0004923	Hyperphenylalaninemia	6697	SPR	OMIM:612716
HP:0004924	Abnormal oral glucose tolerance	6523	SLC5A1	OMIM:606824
HP:0004924	Abnormal oral glucose tolerance	3767	KCNJ11	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	3767	KCNJ11	ORPHA:276580
HP:0004924	Abnormal oral glucose tolerance	8462	KLF11	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	2645	GCK	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	26060	APPL1	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	640	BLK	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	1056	CEL	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	4760	NEUROD1	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	3651	PDX1	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	6833	ABCC8	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	5078	PAX4	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	3172	HNF4A	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	6927	HNF1A	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	3630	INS	ORPHA:552
HP:0004924	Abnormal oral glucose tolerance	6524	SLC5A2	ORPHA:69076
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	4914	NTRK1	ORPHA:642
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	410	ARSA	ORPHA:309271
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	5660	PSAP	ORPHA:309271
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2934	GSN	ORPHA:85448
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	3953	LEPR	ORPHA:179494
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2629	GBA1	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	23317	DNAJC13	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1981	EIF4G1	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	55737	VPS35	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	120892	LRRK2	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	26058	GIGYF2	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	6622	SNCA	ORPHA:411602
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	3952	LEP	ORPHA:66628
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	27235	COQ2	ORPHA:227510
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	27235	COQ2	ORPHA:98933
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	4001	LMNB1	OMIM:169500
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	7276	TTR	OMIM:105210
HP:0004927	Pulmonary artery dilatation	2294	FOXF1	OMIM:265380
HP:0004927	Pulmonary artery dilatation	30008	EFEMP2	OMIM:614437
HP:0004927	Pulmonary artery dilatation	59	ACTA2	OMIM:613834
HP:0004927	Pulmonary artery dilatation	171019	ADAMTS19	OMIM:620067
HP:0004927	Pulmonary artery dilatation	79989	IFT56	OMIM:619534
HP:0004927	Pulmonary artery dilatation	2200	FBN1	OMIM:154700
HP:0004927	Pulmonary artery dilatation	7092	TLL1	ORPHA:99106
HP:0004927	Pulmonary artery dilatation	7046	TGFBR1	OMIM:609192
HP:0004927	Pulmonary artery dilatation	7048	TGFBR2	OMIM:610168
HP:0004927	Pulmonary artery dilatation	1281	COL3A1	ORPHA:286
HP:0004927	Pulmonary artery dilatation	1289	COL5A1	OMIM:619329
HP:0004927	Pulmonary artery dilatation	633	BGN	OMIM:300989
HP:0004927	Pulmonary artery dilatation	10526	IPO8	OMIM:619472
HP:0004930	Abnormality of the pulmonary vasculature	4286	MITF	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	7299	TYR	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	6591	SNAI2	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	1910	EDNRB	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	4254	KITLG	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	6663	SOX10	ORPHA:895
HP:0004930	Abnormality of the pulmonary vasculature	4000	LMNA	ORPHA:363618
HP:0004930	Abnormality of the pulmonary vasculature	4000	LMNA	ORPHA:79474
HP:0004930	Abnormality of the pulmonary vasculature	145173	B3GLCT	ORPHA:709
HP:0004930	Abnormality of the pulmonary vasculature	5080	PAX6	ORPHA:1065
HP:0004930	Abnormality of the pulmonary vasculature	3708	ITPR1	ORPHA:1065
HP:0004930	Abnormality of the pulmonary vasculature	55109	AGGF1	ORPHA:90308
HP:0004930	Abnormality of the pulmonary vasculature	673	BRAF	ORPHA:500
HP:0004930	Abnormality of the pulmonary vasculature	9968	MED12	OMIM:301068
HP:0004930	Abnormality of the pulmonary vasculature	2006	ELN	OMIM:185500
HP:0004930	Abnormality of the pulmonary vasculature	2294	FOXF1	OMIM:265380
HP:0004930	Abnormality of the pulmonary vasculature	6134	RPL10	OMIM:300998
HP:0004930	Abnormality of the pulmonary vasculature	6134	RPL10	ORPHA:459070
HP:0004930	Abnormality of the pulmonary vasculature	6134	RPL10	ORPHA:435938
HP:0004930	Abnormality of the pulmonary vasculature	81031	SLC2A10	OMIM:208050
HP:0004930	Abnormality of the pulmonary vasculature	81031	SLC2A10	ORPHA:3342
HP:0004930	Abnormality of the pulmonary vasculature	8260	NAA10	OMIM:300855
HP:0004930	Abnormality of the pulmonary vasculature	8260	NAA10	ORPHA:276432
HP:0004930	Abnormality of the pulmonary vasculature	1272	CNTN1	OMIM:612540
HP:0004930	Abnormality of the pulmonary vasculature	10082	GPC6	OMIM:258315
HP:0004930	Abnormality of the pulmonary vasculature	9487	PIGL	OMIM:280000
HP:0004930	Abnormality of the pulmonary vasculature	64919	BCL11B	OMIM:617237
HP:0004930	Abnormality of the pulmonary vasculature	2627	GATA6	ORPHA:2255
HP:0004930	Abnormality of the pulmonary vasculature	2627	GATA6	OMIM:600001
HP:0004930	Abnormality of the pulmonary vasculature	22800	RRAS2	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	867	CBL	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	8216	LZTR1	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	6016	RIT1	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	6237	RRAS	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	5894	RAF1	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	22808	MRAS	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	3845	KRAS	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	200734	SPRED2	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	4893	NRAS	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	6654	SOS1	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	6655	SOS2	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	5781	PTPN11	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	5922	RASA2	ORPHA:648
HP:0004930	Abnormality of the pulmonary vasculature	7486	WRN	ORPHA:902
HP:0004930	Abnormality of the pulmonary vasculature	54361	WNT4	OMIM:611812
HP:0004930	Abnormality of the pulmonary vasculature	415	ARSL	ORPHA:79345
HP:0004930	Abnormality of the pulmonary vasculature	10312	TCIRG1	ORPHA:667
HP:0004930	Abnormality of the pulmonary vasculature	1186	CLCN7	ORPHA:667
HP:0004930	Abnormality of the pulmonary vasculature	29887	SNX10	ORPHA:667
HP:0004930	Abnormality of the pulmonary vasculature	8600	TNFSF11	ORPHA:667
HP:0004930	Abnormality of the pulmonary vasculature	2626	GATA4	ORPHA:251071
HP:0004930	Abnormality of the pulmonary vasculature	5422	POLA1	OMIM:301030
HP:0004930	Abnormality of the pulmonary vasculature	2623	GATA1	OMIM:190685
HP:0004930	Abnormality of the pulmonary vasculature	93233	ODAD1	OMIM:615067
HP:0004930	Abnormality of the pulmonary vasculature	4256	MGP	ORPHA:85202
HP:0004930	Abnormality of the pulmonary vasculature	92002	CCNQ	ORPHA:140952
HP:0004930	Abnormality of the pulmonary vasculature	388015	RTL1	ORPHA:96334
HP:0004930	Abnormality of the pulmonary vasculature	8788	DLK1	ORPHA:96334
HP:0004930	Abnormality of the pulmonary vasculature	55384	MEG3	ORPHA:96334
HP:0004930	Abnormality of the pulmonary vasculature	59	ACTA2	OMIM:613834
HP:0004930	Abnormality of the pulmonary vasculature	171019	ADAMTS19	OMIM:620067
HP:0004930	Abnormality of the pulmonary vasculature	79989	IFT56	OMIM:619534
HP:0004930	Abnormality of the pulmonary vasculature	2200	FBN1	OMIM:154700
HP:0004930	Abnormality of the pulmonary vasculature	7092	TLL1	ORPHA:99106
HP:0004930	Abnormality of the pulmonary vasculature	2303	FOXC2	ORPHA:33001
HP:0004930	Abnormality of the pulmonary vasculature	64840	PORCN	ORPHA:2092
HP:0004930	Abnormality of the pulmonary vasculature	5337	PLD1	OMIM:212093
HP:0004930	Abnormality of the pulmonary vasculature	78987	CRELD1	OMIM:606217
HP:0004930	Abnormality of the pulmonary vasculature	84231	TRAF7	OMIM:618164
HP:0004930	Abnormality of the pulmonary vasculature	2324	FLT4	OMIM:618780
HP:0004930	Abnormality of the pulmonary vasculature	2657	GDF1	OMIM:208530
HP:0004930	Abnormality of the pulmonary vasculature	2657	GDF1	OMIM:613854
HP:0004930	Abnormality of the pulmonary vasculature	93	ACVR2B	OMIM:613751
HP:0004930	Abnormality of the pulmonary vasculature	1482	NKX2-5	OMIM:108900
HP:0004930	Abnormality of the pulmonary vasculature	118856	MMP21	OMIM:616749
HP:0004930	Abnormality of the pulmonary vasculature	8772	FADD	OMIM:613759
HP:0004930	Abnormality of the pulmonary vasculature	8772	FADD	ORPHA:306550
HP:0004930	Abnormality of the pulmonary vasculature	4838	NODAL	OMIM:270100
HP:0004930	Abnormality of the pulmonary vasculature	6597	SMARCA4	OMIM:614609
HP:0004930	Abnormality of the pulmonary vasculature	55593	OTUD5	OMIM:301056
HP:0004930	Abnormality of the pulmonary vasculature	1857	DVL3	OMIM:616894
HP:0004930	Abnormality of the pulmonary vasculature	168507	PKD1L1	OMIM:617205
HP:0004930	Abnormality of the pulmonary vasculature	55636	CHD7	OMIM:214800
HP:0004930	Abnormality of the pulmonary vasculature	9772	TMEM94	OMIM:618316
HP:0004930	Abnormality of the pulmonary vasculature	100128908	CIROP	OMIM:619702
HP:0004930	Abnormality of the pulmonary vasculature	9993	DGCR2	OMIM:192430
HP:0004930	Abnormality of the pulmonary vasculature	8220	ESS2	OMIM:192430
HP:0004930	Abnormality of the pulmonary vasculature	8214	DGCR6	OMIM:192430
HP:0004930	Abnormality of the pulmonary vasculature	54487	DGCR8	OMIM:192430
HP:0004930	Abnormality of the pulmonary vasculature	6899	TBX1	OMIM:192430
HP:0004930	Abnormality of the pulmonary vasculature	118924	FRA10AC1	OMIM:620113
HP:0004930	Abnormality of the pulmonary vasculature	3516	RBPJ	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	4851	NOTCH1	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	57514	ARHGAP31	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	57572	DOCK6	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	285203	EOGT	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	54567	DLL4	ORPHA:974
HP:0004930	Abnormality of the pulmonary vasculature	30008	EFEMP2	OMIM:614437
HP:0004930	Abnormality of the pulmonary vasculature	7046	TGFBR1	OMIM:609192
HP:0004930	Abnormality of the pulmonary vasculature	7048	TGFBR2	OMIM:610168
HP:0004930	Abnormality of the pulmonary vasculature	1281	COL3A1	ORPHA:286
HP:0004930	Abnormality of the pulmonary vasculature	1289	COL5A1	OMIM:619329
HP:0004930	Abnormality of the pulmonary vasculature	633	BGN	OMIM:300989
HP:0004930	Abnormality of the pulmonary vasculature	10526	IPO8	OMIM:619472
HP:0004930	Abnormality of the pulmonary vasculature	10491	CRTAP	OMIM:610682
HP:0004930	Abnormality of the pulmonary vasculature	9839	ZEB2	ORPHA:261537
HP:0004930	Abnormality of the pulmonary vasculature	9839	ZEB2	ORPHA:261552
HP:0004930	Abnormality of the pulmonary vasculature	9839	ZEB2	OMIM:235730
HP:0004930	Abnormality of the pulmonary vasculature	55181	SMG8	OMIM:619268
HP:0004930	Abnormality of the pulmonary vasculature	3977	LIFR	OMIM:601559
HP:0004930	Abnormality of the pulmonary vasculature	57551	TAOK1	OMIM:619575
HP:0004930	Abnormality of the pulmonary vasculature	182	JAG1	OMIM:617992
HP:0004930	Abnormality of the pulmonary vasculature	182	JAG1	OMIM:118450
HP:0004930	Abnormality of the pulmonary vasculature	54880	BCOR	ORPHA:2712
HP:0004930	Abnormality of the pulmonary vasculature	8425	LTBP4	OMIM:613177
HP:0004930	Abnormality of the pulmonary vasculature	10516	FBLN5	ORPHA:90348
HP:0004930	Abnormality of the pulmonary vasculature	10516	FBLN5	ORPHA:90349
HP:0004930	Abnormality of the pulmonary vasculature	5832	ALDH18A1	ORPHA:90348
HP:0004930	Abnormality of the pulmonary vasculature	4052	LTBP1	ORPHA:90349
HP:0004930	Abnormality of the pulmonary vasculature	6804	STX1A	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	7461	CLIP2	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	84277	DNAJC30	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	8468	FKBP6	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	5982	RFC2	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	2969	GTF2I	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	3984	LIMK1	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	9569	GTF2IRD1	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	155382	VPS37D	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	155368	METTL27	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	114049	BUD23	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	7458	EIF4H	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	84163	GTF2IRD2	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	9275	BCL7B	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	26608	TBL2	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	653361	NCF1	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	135886	TMEM270	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	51085	MLXIPL	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	51085	MLXIPL	OMIM:194050
HP:0004930	Abnormality of the pulmonary vasculature	9031	BAZ1B	ORPHA:904
HP:0004930	Abnormality of the pulmonary vasculature	84720	PIGO	OMIM:614749
HP:0004930	Abnormality of the pulmonary vasculature	4853	NOTCH2	OMIM:610205
HP:0004930	Abnormality of the pulmonary vasculature	23556	PIGN	ORPHA:280633
HP:0004930	Abnormality of the pulmonary vasculature	112752	IFT43	OMIM:614099
HP:0004930	Abnormality of the pulmonary vasculature	2260	FGFR1	OMIM:613001
HP:0004930	Abnormality of the pulmonary vasculature	9652	SKIC3	ORPHA:84064
HP:0004930	Abnormality of the pulmonary vasculature	6499	SKIC2	ORPHA:84064
HP:0004930	Abnormality of the pulmonary vasculature	5500	PPP1CB	OMIM:617506
HP:0004930	Abnormality of the pulmonary vasculature	7319	UBE2A	ORPHA:163956
HP:0004930	Abnormality of the pulmonary vasculature	10293	TRAIP	OMIM:616777
HP:0004930	Abnormality of the pulmonary vasculature	10157	AASS	ORPHA:2203
HP:0004930	Abnormality of the pulmonary vasculature	4625	MYH7	OMIM:613426
HP:0004930	Abnormality of the pulmonary vasculature	8854	ALDH1A2	OMIM:620025
HP:0004930	Abnormality of the pulmonary vasculature	28952	CCDC22	OMIM:300963
HP:0004930	Abnormality of the pulmonary vasculature	7547	ZIC3	OMIM:306955
HP:0004930	Abnormality of the pulmonary vasculature	6210	RPS15A	OMIM:618313
HP:0004930	Abnormality of the pulmonary vasculature	123606	NIPA1	ORPHA:261183
HP:0004930	Abnormality of the pulmonary vasculature	7283	TUBG1	ORPHA:261183
HP:0004930	Abnormality of the pulmonary vasculature	81614	NIPA2	ORPHA:261183
HP:0004930	Abnormality of the pulmonary vasculature	998	CDC42	ORPHA:487796
HP:0004930	Abnormality of the pulmonary vasculature	220136	CFAP53	OMIM:614779
HP:0004930	Abnormality of the pulmonary vasculature	2719	GPC3	OMIM:312870
HP:0004930	Abnormality of the pulmonary vasculature	2239	GPC4	OMIM:312870
HP:0004930	Abnormality of the pulmonary vasculature	340419	RSPO2	OMIM:618021
HP:0004930	Abnormality of the pulmonary vasculature	64220	STRA6	OMIM:601186
HP:0004930	Abnormality of the pulmonary vasculature	659	BMPR2	OMIM:178600
HP:0004930	Abnormality of the pulmonary vasculature	7473	WNT3	OMIM:273395
HP:0004930	Abnormality of the pulmonary vasculature	595	CCND1	OMIM:193300
HP:0004930	Abnormality of the pulmonary vasculature	7428	VHL	OMIM:193300
HP:0004930	Abnormality of the pulmonary vasculature	440275	EIF2AK4	OMIM:234810
HP:0004930	Abnormality of the pulmonary vasculature	94	ACVRL1	OMIM:600376
HP:0004930	Abnormality of the pulmonary vasculature	2022	ENG	OMIM:187300
HP:0004930	Abnormality of the pulmonary vasculature	857	CAV1	OMIM:606721
HP:0004930	Abnormality of the pulmonary vasculature	4089	SMAD4	OMIM:175050
HP:0004930	Abnormality of the pulmonary vasculature	25981	DNAH1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	115948	ODAD3	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	54768	HYDIN	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	352909	DNAAF3	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	27148	STK36	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	51314	NME8	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	92749	DRC1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	54970	TTC12	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	152110	NEK10	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	8481	OFD1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	2302	FOXJ1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	221421	RSPH9	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	85478	CCDC65	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	55036	CCDC40	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	51364	ZMYND10	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	64446	DNAI2	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	6674	SPAG1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	83544	DNAL1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	89765	RSPH1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	83538	ODAD4	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	200373	CFAP221	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	374407	DNAJB13	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	55172	DNAAF2	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	161582	DNAAF4	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	2622	GAS8	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	23639	DNAAF11	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	27019	DNAI1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	345895	RSPH4A	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	54919	DNAAF5	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	6103	RPGR	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	388389	CCDC103	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	55130	ODAD2	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	1767	DNAH5	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	83861	RSPH3	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	345643	MCIDAS	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	56683	CFAP298	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	79925	SPEF2	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	10309	CCNO	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	115399	LRRC56	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	139212	DNAAF6	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	123872	DNAAF1	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	85016	CFAP300	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	339829	CCDC39	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	8701	DNAH11	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	1770	DNAH9	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	246176	GAS2L2	ORPHA:244
HP:0004930	Abnormality of the pulmonary vasculature	1718	DHCR24	ORPHA:35107
HP:0004930	Abnormality of the pulmonary vasculature	6910	TBX5	ORPHA:392
HP:0004930	Abnormality of the pulmonary vasculature	10370	CITED2	OMIM:614433
HP:0004930	Abnormality of the pulmonary vasculature	10370	CITED2	ORPHA:99105
HP:0004930	Abnormality of the pulmonary vasculature	27125	AFF4	OMIM:616368
HP:0004930	Abnormality of the pulmonary vasculature	134701	RIPPLY2	ORPHA:2311
HP:0004930	Abnormality of the pulmonary vasculature	10683	DLL3	ORPHA:2311
HP:0004930	Abnormality of the pulmonary vasculature	3955	LFNG	ORPHA:2311
HP:0004930	Abnormality of the pulmonary vasculature	84667	HES7	ORPHA:2311
HP:0004930	Abnormality of the pulmonary vasculature	145873	MESP2	ORPHA:2311
HP:0004930	Abnormality of the pulmonary vasculature	745	MYRF	OMIM:618280
HP:0004930	Abnormality of the pulmonary vasculature	7490	WT1	OMIM:608978
HP:0004930	Abnormality of the pulmonary vasculature	8243	SMC1A	OMIM:301044
HP:0004930	Abnormality of the pulmonary vasculature	54916	TMEM260	OMIM:617478
HP:0004930	Abnormality of the pulmonary vasculature	4087	SMAD2	OMIM:619657
HP:0004930	Abnormality of the pulmonary vasculature	137814	NKX2-6	ORPHA:3384
HP:0004930	Abnormality of the pulmonary vasculature	23129	PLXND1	ORPHA:3384
HP:0004930	Abnormality of the pulmonary vasculature	6439	SFTPB	OMIM:265120
HP:0004931	Arteriosclerosis of small cerebral arteries	50485	SMARCAL1	ORPHA:1830
HP:0004931	Arteriosclerosis of small cerebral arteries	5654	HTRA1	OMIM:600142
HP:0004933	Ascending aortic dissection	1281	COL3A1	OMIM:130050
HP:0004933	Ascending aortic dissection	2200	FBN1	OMIM:608328
HP:0004933	Ascending aortic dissection	2200	FBN1	OMIM:604308
HP:0004933	Ascending aortic dissection	2200	FBN1	ORPHA:91387
HP:0004933	Ascending aortic dissection	11117	EMILIN1	OMIM:620080
HP:0004933	Ascending aortic dissection	4015	LOX	OMIM:617168
HP:0004933	Ascending aortic dissection	4015	LOX	ORPHA:91387
HP:0004933	Ascending aortic dissection	7043	TGFB3	OMIM:615582
HP:0004933	Ascending aortic dissection	7043	TGFB3	ORPHA:91387
HP:0004933	Ascending aortic dissection	8076	MFAP5	OMIM:616166
HP:0004933	Ascending aortic dissection	8076	MFAP5	ORPHA:91387
HP:0004933	Ascending aortic dissection	4638	MYLK	OMIM:613780
HP:0004933	Ascending aortic dissection	4638	MYLK	ORPHA:91387
HP:0004933	Ascending aortic dissection	54538	ROBO4	OMIM:618496
HP:0004933	Ascending aortic dissection	2301	FOXE3	OMIM:617349
HP:0004933	Ascending aortic dissection	2301	FOXE3	ORPHA:91387
HP:0004933	Ascending aortic dissection	79875	THSD4	OMIM:619825
HP:0004933	Ascending aortic dissection	4088	SMAD3	OMIM:613795
HP:0004933	Ascending aortic dissection	4088	SMAD3	ORPHA:91387
HP:0004933	Ascending aortic dissection	7046	TGFBR1	OMIM:609192
HP:0004933	Ascending aortic dissection	7046	TGFBR1	ORPHA:91387
HP:0004933	Ascending aortic dissection	4629	MYH11	OMIM:132900
HP:0004933	Ascending aortic dissection	4629	MYH11	ORPHA:229
HP:0004933	Ascending aortic dissection	4629	MYH11	ORPHA:91387
HP:0004933	Ascending aortic dissection	4091	SMAD6	OMIM:614823
HP:0004933	Ascending aortic dissection	4091	SMAD6	ORPHA:402075
HP:0004933	Ascending aortic dissection	7048	TGFBR2	OMIM:610168
HP:0004933	Ascending aortic dissection	7048	TGFBR2	ORPHA:91387
HP:0004933	Ascending aortic dissection	5592	PRKG1	OMIM:615436
HP:0004933	Ascending aortic dissection	5592	PRKG1	ORPHA:91387
HP:0004933	Ascending aortic dissection	4851	NOTCH1	ORPHA:402075
HP:0004933	Ascending aortic dissection	1482	NKX2-5	ORPHA:402075
HP:0004933	Ascending aortic dissection	140628	GATA5	ORPHA:402075
HP:0004933	Ascending aortic dissection	59	ACTA2	OMIM:611788
HP:0004933	Ascending aortic dissection	59	ACTA2	ORPHA:91387
HP:0004933	Ascending aortic dissection	4087	SMAD2	ORPHA:91387
HP:0004933	Ascending aortic dissection	7042	TGFB2	ORPHA:91387
HP:0004933	Ascending aortic dissection	4089	SMAD4	ORPHA:91387
HP:0004933	Ascending aortic dissection	4144	MAT2A	ORPHA:91387
HP:0004933	Ascending aortic dissection	23493	HEY2	ORPHA:91387
HP:0004933	Ascending aortic dissection	2006	ELN	ORPHA:91387
HP:0004934	Vascular calcification	3081	HGD	ORPHA:56
HP:0004934	Vascular calcification	3081	HGD	OMIM:203500
HP:0004934	Vascular calcification	6575	SLC20A2	OMIM:213600
HP:0004934	Vascular calcification	5155	PDGFB	OMIM:213600
HP:0004934	Vascular calcification	5159	PDGFRB	OMIM:213600
HP:0004934	Vascular calcification	1161	ERCC8	ORPHA:90324
HP:0004934	Vascular calcification	2074	ERCC6	ORPHA:90324
HP:0004934	Vascular calcification	2591	GALNT3	OMIM:211900
HP:0004934	Vascular calcification	4851	NOTCH1	ORPHA:402075
HP:0004934	Vascular calcification	1482	NKX2-5	ORPHA:402075
HP:0004934	Vascular calcification	140628	GATA5	ORPHA:402075
HP:0004934	Vascular calcification	3949	LDLR	ORPHA:391665
HP:0004934	Vascular calcification	255738	PCSK9	ORPHA:391665
HP:0004934	Vascular calcification	26119	LDLRAP1	ORPHA:391665
HP:0004934	Vascular calcification	338	APOB	ORPHA:391665
HP:0004934	Vascular calcification	64240	ABCG5	ORPHA:391665
HP:0004934	Vascular calcification	64241	ABCG8	ORPHA:391665
HP:0004934	Vascular calcification	2629	GBA1	OMIM:231005
HP:0004934	Vascular calcification	2629	GBA1	ORPHA:2072
HP:0004934	Vascular calcification	4091	SMAD6	OMIM:614823
HP:0004934	Vascular calcification	10568	SLC34A2	ORPHA:60025
HP:0004934	Vascular calcification	10535	RNASEH2A	ORPHA:51
HP:0004934	Vascular calcification	84153	RNASEH2C	ORPHA:51
HP:0004934	Vascular calcification	25939	SAMHD1	ORPHA:51
HP:0004934	Vascular calcification	79621	RNASEH2B	ORPHA:51
HP:0004934	Vascular calcification	103	ADAR	ORPHA:51
HP:0004934	Vascular calcification	11277	TREX1	ORPHA:51
HP:0004934	Vascular calcification	100147744	RNU7-1	ORPHA:51
HP:0004934	Vascular calcification	134353	LSM11	ORPHA:51
HP:0004934	Vascular calcification	64135	IFIH1	ORPHA:51
HP:0004934	Vascular calcification	5167	ENPP1	ORPHA:51608
HP:0004934	Vascular calcification	368	ABCC6	ORPHA:51608
HP:0004934	Vascular calcification	6772	STAT1	ORPHA:391487
HP:0004934	Vascular calcification	10043	TOM1	ORPHA:391487
HP:0004934	Vascular calcification	4907	NT5E	OMIM:211800
HP:0004935	Pulmonary artery atresia	5337	PLD1	OMIM:212093
HP:0004935	Pulmonary artery atresia	78987	CRELD1	OMIM:606217
HP:0004935	Pulmonary artery atresia	137814	NKX2-6	ORPHA:3384
HP:0004935	Pulmonary artery atresia	23129	PLXND1	ORPHA:3384
HP:0004935	Pulmonary artery atresia	84231	TRAF7	OMIM:618164
HP:0004935	Pulmonary artery atresia	2324	FLT4	OMIM:618780
HP:0004935	Pulmonary artery atresia	2657	GDF1	OMIM:208530
HP:0004935	Pulmonary artery atresia	2657	GDF1	OMIM:613854
HP:0004935	Pulmonary artery atresia	93	ACVR2B	OMIM:613751
HP:0004935	Pulmonary artery atresia	1482	NKX2-5	OMIM:108900
HP:0004935	Pulmonary artery atresia	118856	MMP21	OMIM:616749
HP:0004935	Pulmonary artery atresia	8772	FADD	OMIM:613759
HP:0004935	Pulmonary artery atresia	8772	FADD	ORPHA:306550
HP:0004935	Pulmonary artery atresia	4838	NODAL	OMIM:270100
HP:0004935	Pulmonary artery atresia	64220	STRA6	OMIM:601186
HP:0004935	Pulmonary artery atresia	6597	SMARCA4	OMIM:614609
HP:0004935	Pulmonary artery atresia	55593	OTUD5	OMIM:301056
HP:0004935	Pulmonary artery atresia	1857	DVL3	OMIM:616894
HP:0004935	Pulmonary artery atresia	168507	PKD1L1	OMIM:617205
HP:0004935	Pulmonary artery atresia	55636	CHD7	OMIM:214800
HP:0004935	Pulmonary artery atresia	9772	TMEM94	OMIM:618316
HP:0004935	Pulmonary artery atresia	100128908	CIROP	OMIM:619702
HP:0004935	Pulmonary artery atresia	9993	DGCR2	OMIM:192430
HP:0004935	Pulmonary artery atresia	8220	ESS2	OMIM:192430
HP:0004935	Pulmonary artery atresia	8214	DGCR6	OMIM:192430
HP:0004935	Pulmonary artery atresia	54487	DGCR8	OMIM:192430
HP:0004935	Pulmonary artery atresia	6899	TBX1	OMIM:192430
HP:0004935	Pulmonary artery atresia	118924	FRA10AC1	OMIM:620113
HP:0004935	Pulmonary artery atresia	3516	RBPJ	ORPHA:974
HP:0004935	Pulmonary artery atresia	4851	NOTCH1	ORPHA:974
HP:0004935	Pulmonary artery atresia	57514	ARHGAP31	ORPHA:974
HP:0004935	Pulmonary artery atresia	57572	DOCK6	ORPHA:974
HP:0004935	Pulmonary artery atresia	285203	EOGT	ORPHA:974
HP:0004935	Pulmonary artery atresia	54567	DLL4	ORPHA:974
HP:0004936	Venous thrombosis	5373	PMM2	ORPHA:79318
HP:0004936	Venous thrombosis	4524	MTHFR	ORPHA:395
HP:0004936	Venous thrombosis	4524	MTHFR	OMIM:188050
HP:0004936	Venous thrombosis	2153	F5	OMIM:188055
HP:0004936	Venous thrombosis	2162	F13A1	OMIM:188050
HP:0004936	Venous thrombosis	3026	HABP2	OMIM:188050
HP:0004936	Venous thrombosis	2158	F9	OMIM:300807
HP:0004936	Venous thrombosis	7056	THBD	OMIM:614486
HP:0004936	Venous thrombosis	25974	MMACHC	ORPHA:79282
HP:0004936	Venous thrombosis	29929	ALG6	ORPHA:79320
HP:0004936	Venous thrombosis	7317	UBA1	OMIM:301054
HP:0004936	Venous thrombosis	207	AKT1	OMIM:176920
HP:0004936	Venous thrombosis	4552	MTRR	ORPHA:2169
HP:0004936	Venous thrombosis	2157	F8	OMIM:301071
HP:0004936	Venous thrombosis	5627	PROS1	OMIM:614514
HP:0004936	Venous thrombosis	5627	PROS1	OMIM:612336
HP:0004936	Venous thrombosis	9692	PRORP	OMIM:619737
HP:0004936	Venous thrombosis	5728	PTEN	ORPHA:744
HP:0004936	Venous thrombosis	7042	TGFB2	OMIM:614816
HP:0004936	Venous thrombosis	3053	SERPIND1	OMIM:612356
HP:0004936	Venous thrombosis	5624	PROC	OMIM:612304
HP:0004936	Venous thrombosis	2658	GDF2	ORPHA:774
HP:0004936	Venous thrombosis	94	ACVRL1	ORPHA:774
HP:0004936	Venous thrombosis	4089	SMAD4	ORPHA:774
HP:0004936	Venous thrombosis	2022	ENG	ORPHA:774
HP:0004936	Venous thrombosis	7066	THPO	ORPHA:71493
HP:0004936	Venous thrombosis	875	CBS	ORPHA:394
HP:0004936	Venous thrombosis	5745	PTH1R	ORPHA:296
HP:0004936	Venous thrombosis	3418	IDH2	ORPHA:296
HP:0004936	Venous thrombosis	3418	IDH2	ORPHA:163634
HP:0004936	Venous thrombosis	3417	IDH1	ORPHA:296
HP:0004936	Venous thrombosis	3417	IDH1	ORPHA:163634
HP:0004936	Venous thrombosis	3043	HBB	ORPHA:231214
HP:0004936	Venous thrombosis	3043	HBB	ORPHA:231226
HP:0004936	Venous thrombosis	55109	AGGF1	ORPHA:90308
HP:0004936	Venous thrombosis	811	CALR	ORPHA:824
HP:0004936	Venous thrombosis	811	CALR	ORPHA:3318
HP:0004936	Venous thrombosis	5156	PDGFRA	OMIM:607685
HP:0004936	Venous thrombosis	1493	CTLA4	ORPHA:900
HP:0004936	Venous thrombosis	26191	PTPN22	ORPHA:900
HP:0004936	Venous thrombosis	3115	HLA-DPB1	ORPHA:900
HP:0004936	Venous thrombosis	5657	PRTN3	ORPHA:900
HP:0004936	Venous thrombosis	3113	HLA-DPA1	ORPHA:900
HP:0004936	Venous thrombosis	2057	EPOR	ORPHA:90042
HP:0004936	Venous thrombosis	2147	F2	ORPHA:325
HP:0004936	Venous thrombosis	2776	GNAQ	ORPHA:624
HP:0004936	Venous thrombosis	2776	GNAQ	ORPHA:3205
HP:0004936	Venous thrombosis	2243	FGA	ORPHA:98881
HP:0004936	Venous thrombosis	2244	FGB	ORPHA:98881
HP:0004936	Venous thrombosis	2266	FGG	ORPHA:98881
HP:0004936	Venous thrombosis	6288	SAA1	ORPHA:85445
HP:0004936	Venous thrombosis	3832	KIF11	ORPHA:2526
HP:0004936	Venous thrombosis	10019	SH2B3	ORPHA:3318
HP:0004936	Venous thrombosis	7157	TP53	ORPHA:3318
HP:0004936	Venous thrombosis	149233	IL23R	ORPHA:117
HP:0004936	Venous thrombosis	6775	STAT4	ORPHA:117
HP:0004936	Venous thrombosis	3586	IL10	ORPHA:117
HP:0004936	Venous thrombosis	4210	MEFV	ORPHA:117
HP:0004936	Venous thrombosis	1230	CCR1	ORPHA:117
HP:0004936	Venous thrombosis	355	FAS	ORPHA:117
HP:0004936	Venous thrombosis	3592	IL12A	ORPHA:117
HP:0004936	Venous thrombosis	101928376	IL12A-AS1	ORPHA:117
HP:0004936	Venous thrombosis	3106	HLA-B	ORPHA:117
HP:0004936	Venous thrombosis	7099	TLR4	ORPHA:117
HP:0004936	Venous thrombosis	3459	IFNGR1	ORPHA:117
HP:0004936	Venous thrombosis	720	C4A	ORPHA:117
HP:0004936	Venous thrombosis	337867	UBAC2	ORPHA:117
HP:0004936	Venous thrombosis	51752	ERAP1	ORPHA:117
HP:0004936	Venous thrombosis	8302	KLRC4	ORPHA:117
HP:0004936	Venous thrombosis	5573	PRKAR1A	ORPHA:280651
HP:0004936	Venous thrombosis	5144	PDE4D	ORPHA:280651
HP:0004936	Venous thrombosis	5236	PGM1	OMIM:614921
HP:0004936	Venous thrombosis	4851	NOTCH1	OMIM:616028
HP:0004936	Venous thrombosis	4352	MPL	ORPHA:729
HP:0004936	Venous thrombosis	3717	JAK2	ORPHA:729
HP:0004936	Venous thrombosis	54790	TET2	ORPHA:729
HP:0004936	Venous thrombosis	4233	MET	ORPHA:33402
HP:0004936	Venous thrombosis	1499	CTNNB1	ORPHA:33402
HP:0004936	Venous thrombosis	6521	SLC4A1	ORPHA:3202
HP:0004936	Venous thrombosis	9780	PIEZO1	ORPHA:3202
HP:0004936	Venous thrombosis	3783	KCNN4	ORPHA:3202
HP:0004936	Venous thrombosis	1604	CD55	OMIM:226300
HP:0004936	Venous thrombosis	93183	PIGM	OMIM:610293
HP:0004936	Venous thrombosis	11330	CTRC	ORPHA:676
HP:0004936	Venous thrombosis	5644	PRSS1	ORPHA:676
HP:0004936	Venous thrombosis	5645	PRSS2	ORPHA:676
HP:0004936	Venous thrombosis	6690	SPINK1	ORPHA:676
HP:0004936	Venous thrombosis	846	CASR	ORPHA:676
HP:0004936	Venous thrombosis	1080	CFTR	ORPHA:676
HP:0004936	Venous thrombosis	1357	CPA1	ORPHA:676
HP:0004936	Venous thrombosis	2034	EPAS1	OMIM:611783
HP:0004936	Venous thrombosis	462	SERPINC1	ORPHA:82
HP:0004936	Venous thrombosis	5277	PIGA	ORPHA:447
HP:0004937	Pulmonary artery aneurysm	30008	EFEMP2	OMIM:614437
HP:0004937	Pulmonary artery aneurysm	7046	TGFBR1	OMIM:609192
HP:0004937	Pulmonary artery aneurysm	7048	TGFBR2	OMIM:610168
HP:0004937	Pulmonary artery aneurysm	1281	COL3A1	ORPHA:286
HP:0004937	Pulmonary artery aneurysm	1289	COL5A1	OMIM:619329
HP:0004937	Pulmonary artery aneurysm	633	BGN	OMIM:300989
HP:0004937	Pulmonary artery aneurysm	10526	IPO8	OMIM:619472
HP:0004938	Tortuous cerebral arteries	351	APP	OMIM:605714
HP:0004938	Tortuous cerebral arteries	4088	SMAD3	OMIM:613795
HP:0004938	Tortuous cerebral arteries	5832	ALDH18A1	OMIM:616603
HP:0004938	Tortuous cerebral arteries	1289	COL5A1	OMIM:619329
HP:0004938	Tortuous cerebral arteries	10526	IPO8	OMIM:619472
HP:0004964	Pulmonary arterial medial hypertrophy	3977	LIFR	OMIM:601559
HP:0004964	Pulmonary arterial medial hypertrophy	659	BMPR2	OMIM:178600
HP:0004940	Generalized arterial calcification	5167	ENPP1	OMIM:208000
HP:0004943	Accelerated atherosclerosis	4000	LMNA	ORPHA:280365
HP:0004943	Accelerated atherosclerosis	64131	XYLT1	OMIM:264800
HP:0004943	Accelerated atherosclerosis	64132	XYLT2	OMIM:264800
HP:0004943	Accelerated atherosclerosis	368	ABCC6	OMIM:264800
HP:0004943	Accelerated atherosclerosis	63036	CELA2A	OMIM:618620
HP:0004943	Accelerated atherosclerosis	19	ABCA1	ORPHA:31150
HP:0004943	Accelerated atherosclerosis	348	APOE	ORPHA:412
HP:0004943	Accelerated atherosclerosis	1581	CYP7A1	ORPHA:209902
HP:0004947	Arteriovenous fistula	2022	ENG	OMIM:187300
HP:0004947	Arteriovenous fistula	1281	COL3A1	ORPHA:286
HP:0004947	Arteriovenous fistula	1277	COL1A1	ORPHA:287
HP:0004947	Arteriovenous fistula	1289	COL5A1	ORPHA:287
HP:0004947	Arteriovenous fistula	1290	COL5A2	ORPHA:287
HP:0004947	Arteriovenous fistula	2050	EPHB4	ORPHA:137667
HP:0004947	Arteriovenous fistula	5921	RASA1	ORPHA:137667
HP:0004947	Arteriovenous fistula	5921	RASA1	ORPHA:90307
HP:0004947	Arteriovenous fistula	5921	RASA1	OMIM:608354
HP:0004947	Arteriovenous fistula	2658	GDF2	ORPHA:774
HP:0004947	Arteriovenous fistula	94	ACVRL1	ORPHA:774
HP:0004947	Arteriovenous fistula	4089	SMAD4	ORPHA:774
HP:0004947	Arteriovenous fistula	55109	AGGF1	ORPHA:90308
HP:0004948	Vascular tortuosity	351	APP	OMIM:605714
HP:0004948	Vascular tortuosity	5832	ALDH18A1	OMIM:616603
HP:0004948	Vascular tortuosity	5831	PYCR1	OMIM:612940
HP:0004948	Vascular tortuosity	5921	RASA1	ORPHA:90307
HP:0004948	Vascular tortuosity	3417	IDH1	ORPHA:99646
HP:0004948	Vascular tortuosity	10516	FBLN5	OMIM:219100
HP:0004948	Vascular tortuosity	81031	SLC2A10	OMIM:208050
HP:0004948	Vascular tortuosity	7046	TGFBR1	ORPHA:60030
HP:0004948	Vascular tortuosity	7046	TGFBR1	OMIM:609192
HP:0004948	Vascular tortuosity	10526	IPO8	ORPHA:60030
HP:0004948	Vascular tortuosity	10526	IPO8	OMIM:619472
HP:0004948	Vascular tortuosity	7048	TGFBR2	ORPHA:60030
HP:0004948	Vascular tortuosity	7048	TGFBR2	OMIM:610168
HP:0004948	Vascular tortuosity	4088	SMAD3	ORPHA:284984
HP:0004948	Vascular tortuosity	4088	SMAD3	OMIM:613795
HP:0004948	Vascular tortuosity	30008	EFEMP2	OMIM:614437
HP:0004948	Vascular tortuosity	7042	TGFB2	OMIM:614816
HP:0004948	Vascular tortuosity	4907	NT5E	ORPHA:289601
HP:0004948	Vascular tortuosity	7703	PCGF2	OMIM:618371
HP:0004948	Vascular tortuosity	1289	COL5A1	OMIM:619329
HP:0004948	Vascular tortuosity	538	ATP7A	OMIM:304150
HP:0004948	Vascular tortuosity	84277	DNAJC30	OMIM:619382
HP:0004948	Vascular tortuosity	85465	SELENOI	ORPHA:506353
HP:0004948	Vascular tortuosity	4514	MT-CO3	OMIM:535000
HP:0004948	Vascular tortuosity	4519	MT-CYB	OMIM:535000
HP:0004948	Vascular tortuosity	4541	MT-ND6	OMIM:535000
HP:0004948	Vascular tortuosity	4540	MT-ND5	OMIM:535000
HP:0004948	Vascular tortuosity	4508	MT-ATP6	OMIM:535000
HP:0004948	Vascular tortuosity	4539	MT-ND4L	OMIM:535000
HP:0004948	Vascular tortuosity	4535	MT-ND1	OMIM:535000
HP:0004948	Vascular tortuosity	4536	MT-ND2	OMIM:535000
HP:0004948	Vascular tortuosity	4538	MT-ND4	OMIM:535000
HP:0004948	Vascular tortuosity	4750	NEK1	ORPHA:2751
HP:0030800	Abnormal visual accommodation	8314	BAP1	ORPHA:39044
HP:0030800	Abnormal visual accommodation	57105	CYSLTR2	ORPHA:39044
HP:0030800	Abnormal visual accommodation	2776	GNAQ	ORPHA:39044
HP:0030800	Abnormal visual accommodation	2767	GNA11	ORPHA:39044
HP:0030800	Abnormal visual accommodation	23451	SF3B1	ORPHA:39044
HP:0004959	Descending thoracic aorta aneurysm	7046	TGFBR1	OMIM:609192
HP:0004959	Descending thoracic aorta aneurysm	7046	TGFBR1	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	7048	TGFBR2	OMIM:610168
HP:0004959	Descending thoracic aorta aneurysm	7048	TGFBR2	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4629	MYH11	ORPHA:229
HP:0004959	Descending thoracic aorta aneurysm	4629	MYH11	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4015	LOX	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4087	SMAD2	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	7043	TGFB3	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4088	SMAD3	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	7042	TGFB2	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4089	SMAD4	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	2200	FBN1	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	59	ACTA2	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	5592	PRKG1	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	2301	FOXE3	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4144	MAT2A	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	23493	HEY2	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	8076	MFAP5	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	4638	MYLK	ORPHA:91387
HP:0004959	Descending thoracic aorta aneurysm	2006	ELN	ORPHA:91387
HP:0004955	Generalized arterial tortuosity	30008	EFEMP2	OMIM:614437
HP:0004955	Generalized arterial tortuosity	7048	TGFBR2	OMIM:610168
HP:0004955	Generalized arterial tortuosity	81031	SLC2A10	OMIM:208050
HP:0004969	Peripheral pulmonary artery stenosis	57551	TAOK1	OMIM:619575
HP:0004969	Peripheral pulmonary artery stenosis	4256	MGP	OMIM:245150
HP:0004969	Peripheral pulmonary artery stenosis	182	JAG1	OMIM:617992
HP:0004969	Peripheral pulmonary artery stenosis	182	JAG1	OMIM:118450
HP:0004969	Peripheral pulmonary artery stenosis	8260	NAA10	OMIM:300855
HP:0004969	Peripheral pulmonary artery stenosis	54880	BCOR	ORPHA:2712
HP:0004969	Peripheral pulmonary artery stenosis	8425	LTBP4	OMIM:613177
HP:0004969	Peripheral pulmonary artery stenosis	92002	CCNQ	OMIM:300707
HP:0004969	Peripheral pulmonary artery stenosis	9487	PIGL	OMIM:280000
HP:0004969	Peripheral pulmonary artery stenosis	2006	ELN	ORPHA:90348
HP:0004969	Peripheral pulmonary artery stenosis	2006	ELN	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	2006	ELN	OMIM:123700
HP:0004969	Peripheral pulmonary artery stenosis	2006	ELN	OMIM:194050
HP:0004969	Peripheral pulmonary artery stenosis	10516	FBLN5	ORPHA:90348
HP:0004969	Peripheral pulmonary artery stenosis	10516	FBLN5	ORPHA:90349
HP:0004969	Peripheral pulmonary artery stenosis	5832	ALDH18A1	ORPHA:90348
HP:0004969	Peripheral pulmonary artery stenosis	4052	LTBP1	ORPHA:90349
HP:0004969	Peripheral pulmonary artery stenosis	30008	EFEMP2	ORPHA:90349
HP:0004969	Peripheral pulmonary artery stenosis	6804	STX1A	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	7461	CLIP2	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	84277	DNAJC30	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	8468	FKBP6	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	5982	RFC2	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	2969	GTF2I	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	3984	LIMK1	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	9569	GTF2IRD1	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	155382	VPS37D	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	155368	METTL27	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	114049	BUD23	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	7458	EIF4H	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	84163	GTF2IRD2	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	9275	BCL7B	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	26608	TBL2	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	653361	NCF1	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	135886	TMEM270	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	51085	MLXIPL	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	51085	MLXIPL	OMIM:194050
HP:0004969	Peripheral pulmonary artery stenosis	9031	BAZ1B	ORPHA:904
HP:0004969	Peripheral pulmonary artery stenosis	84720	PIGO	OMIM:614749
HP:0004969	Peripheral pulmonary artery stenosis	4853	NOTCH2	OMIM:610205
HP:0004969	Peripheral pulmonary artery stenosis	23556	PIGN	ORPHA:280633
HP:0004969	Peripheral pulmonary artery stenosis	112752	IFT43	OMIM:614099
HP:0004969	Peripheral pulmonary artery stenosis	2260	FGFR1	OMIM:613001
HP:0004969	Peripheral pulmonary artery stenosis	9652	SKIC3	ORPHA:84064
HP:0004969	Peripheral pulmonary artery stenosis	6499	SKIC2	ORPHA:84064
HP:0004969	Peripheral pulmonary artery stenosis	5500	PPP1CB	OMIM:617506
HP:0004969	Peripheral pulmonary artery stenosis	7319	UBE2A	ORPHA:163956
HP:0030807	Abnormal nail growth	10804	GJB6	ORPHA:189
HP:0030804	Trachyonychia	4791	NFKB2	OMIM:615577
HP:0030804	Trachyonychia	8323	FZD6	OMIM:161050
HP:0030802	Lower eyelid retraction	6452	SH3BP2	OMIM:118400
HP:0030809	Abnormal tongue morphology	11160	ERLIN2	ORPHA:280384
HP:0030809	Abnormal tongue morphology	11160	ERLIN2	ORPHA:209951
HP:0030809	Abnormal tongue morphology	8450	CUL4B	OMIM:300354
HP:0030809	Abnormal tongue morphology	51422	PRKAG2	OMIM:261740
HP:0030809	Abnormal tongue morphology	9158	FIBP	ORPHA:500095
HP:0030809	Abnormal tongue morphology	9158	FIBP	OMIM:617107
HP:0030809	Abnormal tongue morphology	411	ARSB	OMIM:253200
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	ORPHA:309282
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	ORPHA:309288
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	OMIM:248500
HP:0030809	Abnormal tongue morphology	7849	PAX8	OMIM:218700
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95720
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95713
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95712
HP:0030809	Abnormal tongue morphology	91754	NEK9	OMIM:617022
HP:0030809	Abnormal tongue morphology	729920	CRPPA	OMIM:616052
HP:0030809	Abnormal tongue morphology	729920	CRPPA	ORPHA:352479
HP:0030809	Abnormal tongue morphology	388015	RTL1	ORPHA:254528
HP:0030809	Abnormal tongue morphology	388015	RTL1	ORPHA:96334
HP:0030809	Abnormal tongue morphology	8788	DLK1	ORPHA:254528
HP:0030809	Abnormal tongue morphology	8788	DLK1	ORPHA:96334
HP:0030809	Abnormal tongue morphology	55384	MEG3	ORPHA:254528
HP:0030809	Abnormal tongue morphology	55384	MEG3	ORPHA:96334
HP:0030809	Abnormal tongue morphology	3074	HEXB	OMIM:268800
HP:0030809	Abnormal tongue morphology	65082	VPS33A	OMIM:617303
HP:0030809	Abnormal tongue morphology	65082	VPS33A	ORPHA:505248
HP:0030809	Abnormal tongue morphology	526	ATP6V1B2	OMIM:616455
HP:0030809	Abnormal tongue morphology	526	ATP6V1B2	ORPHA:3473
HP:0030809	Abnormal tongue morphology	10758	TRAF3IP2	OMIM:615527
HP:0030809	Abnormal tongue morphology	10084	PQBP1	ORPHA:93947
HP:0030809	Abnormal tongue morphology	79158	GNPTAB	OMIM:252500
HP:0030809	Abnormal tongue morphology	271	AMPD2	OMIM:615809
HP:0030809	Abnormal tongue morphology	57231	SNX14	ORPHA:397709
HP:0030809	Abnormal tongue morphology	57231	SNX14	OMIM:616354
HP:0030809	Abnormal tongue morphology	3767	KCNJ11	ORPHA:99886
HP:0030809	Abnormal tongue morphology	346171	ZFP57	ORPHA:99886
HP:0030809	Abnormal tongue morphology	57061	HYMAI	ORPHA:99886
HP:0030809	Abnormal tongue morphology	57061	HYMAI	ORPHA:96191
HP:0030809	Abnormal tongue morphology	6833	ABCC8	ORPHA:99886
HP:0030809	Abnormal tongue morphology	5325	PLAGL1	ORPHA:99886
HP:0030809	Abnormal tongue morphology	5325	PLAGL1	ORPHA:96191
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:90673
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:95720
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:95713
HP:0030809	Abnormal tongue morphology	79147	FKRP	OMIM:607155
HP:0030809	Abnormal tongue morphology	79147	FKRP	OMIM:606612
HP:0030809	Abnormal tongue morphology	79147	FKRP	ORPHA:370959
HP:0030809	Abnormal tongue morphology	5172	SLC26A4	ORPHA:95720
HP:0030809	Abnormal tongue morphology	5172	SLC26A4	ORPHA:95713
HP:0030809	Abnormal tongue morphology	7252	TSHB	ORPHA:90674
HP:0030809	Abnormal tongue morphology	7252	TSHB	OMIM:275100
HP:0030809	Abnormal tongue morphology	55777	MBD5	OMIM:156200
HP:0030809	Abnormal tongue morphology	10940	POP1	OMIM:617396
HP:0030809	Abnormal tongue morphology	405753	DUOXA2	ORPHA:95716
HP:0030809	Abnormal tongue morphology	6528	SLC5A5	ORPHA:95716
HP:0030809	Abnormal tongue morphology	6528	SLC5A5	OMIM:274400
HP:0030809	Abnormal tongue morphology	7038	TG	ORPHA:95716
HP:0030809	Abnormal tongue morphology	7173	TPO	ORPHA:95716
HP:0030809	Abnormal tongue morphology	389434	IYD	ORPHA:95716
HP:0030809	Abnormal tongue morphology	50506	DUOX2	ORPHA:95716
HP:0030809	Abnormal tongue morphology	50506	DUOX2	ORPHA:226316
HP:0030809	Abnormal tongue morphology	7080	NKX2-1	ORPHA:95713
HP:0030809	Abnormal tongue morphology	1482	NKX2-5	ORPHA:95713
HP:0030809	Abnormal tongue morphology	1482	NKX2-5	ORPHA:95712
HP:0030809	Abnormal tongue morphology	2304	FOXE1	ORPHA:95713
HP:0030809	Abnormal tongue morphology	3423	IDS	ORPHA:217085
HP:0030809	Abnormal tongue morphology	3423	IDS	ORPHA:217093
HP:0030809	Abnormal tongue morphology	3423	IDS	OMIM:309900
HP:0030809	Abnormal tongue morphology	3572	IL6ST	OMIM:618523
HP:0030809	Abnormal tongue morphology	93627	TBCK	OMIM:616900
HP:0030809	Abnormal tongue morphology	93627	TBCK	ORPHA:488632
HP:0030809	Abnormal tongue morphology	8289	ARID1A	OMIM:614607
HP:0030809	Abnormal tongue morphology	23389	MED13L	ORPHA:369891
HP:0030809	Abnormal tongue morphology	23389	MED13L	OMIM:616789
HP:0030809	Abnormal tongue morphology	83550	GPR101	ORPHA:963
HP:0030809	Abnormal tongue morphology	9049	AIP	ORPHA:963
HP:0030809	Abnormal tongue morphology	6598	SMARCB1	OMIM:614608
HP:0030809	Abnormal tongue morphology	6597	SMARCA4	OMIM:614609
HP:0030809	Abnormal tongue morphology	60	ACTB	ORPHA:79107
HP:0030809	Abnormal tongue morphology	3265	HRAS	ORPHA:3071
HP:0030809	Abnormal tongue morphology	3265	HRAS	OMIM:218040
HP:0030809	Abnormal tongue morphology	112812	FDX2	OMIM:251900
HP:0030809	Abnormal tongue morphology	4556	MT-TE	ORPHA:254864
HP:0030809	Abnormal tongue morphology	55687	TRMU	ORPHA:254864
HP:0030809	Abnormal tongue morphology	7067	THRA	OMIM:614450
HP:0030809	Abnormal tongue morphology	6023	RMRP	OMIM:607095
HP:0030809	Abnormal tongue morphology	175	AGA	OMIM:208400
HP:0030809	Abnormal tongue morphology	175	AGA	ORPHA:93
HP:0030809	Abnormal tongue morphology	3756	KCNH1	ORPHA:3473
HP:0030809	Abnormal tongue morphology	3782	KCNN3	ORPHA:3473
HP:0030809	Abnormal tongue morphology	3425	IDUA	OMIM:607014
HP:0030809	Abnormal tongue morphology	3425	IDUA	ORPHA:93473
HP:0030809	Abnormal tongue morphology	6445	SGCG	ORPHA:353
HP:0030809	Abnormal tongue morphology	9653	HS2ST1	OMIM:619194
HP:0030809	Abnormal tongue morphology	2290	FOXG1	ORPHA:261144
HP:0030809	Abnormal tongue morphology	57003	CCDC47	OMIM:618268
HP:0030809	Abnormal tongue morphology	94005	PIGS	OMIM:618143
HP:0030809	Abnormal tongue morphology	5626	PROP1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	89884	LHX4	ORPHA:226307
HP:0030809	Abnormal tongue morphology	8022	LHX3	ORPHA:226307
HP:0030809	Abnormal tongue morphology	5449	POU1F1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	5449	POU1F1	OMIM:613038
HP:0030809	Abnormal tongue morphology	8820	HESX1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	2517	FUCA1	OMIM:230000
HP:0030809	Abnormal tongue morphology	2548	GAA	OMIM:232300
HP:0030809	Abnormal tongue morphology	2548	GAA	ORPHA:308552
HP:0030809	Abnormal tongue morphology	51692	CPSF3	OMIM:619876
HP:0030809	Abnormal tongue morphology	6804	STX1A	ORPHA:904
HP:0030809	Abnormal tongue morphology	7461	CLIP2	ORPHA:904
HP:0030809	Abnormal tongue morphology	84277	DNAJC30	ORPHA:904
HP:0030809	Abnormal tongue morphology	8468	FKBP6	ORPHA:904
HP:0030809	Abnormal tongue morphology	5982	RFC2	ORPHA:904
HP:0030809	Abnormal tongue morphology	2969	GTF2I	ORPHA:904
HP:0030809	Abnormal tongue morphology	3984	LIMK1	ORPHA:904
HP:0030809	Abnormal tongue morphology	9569	GTF2IRD1	ORPHA:904
HP:0030809	Abnormal tongue morphology	155382	VPS37D	ORPHA:904
HP:0030809	Abnormal tongue morphology	155368	METTL27	ORPHA:904
HP:0030809	Abnormal tongue morphology	114049	BUD23	ORPHA:904
HP:0030809	Abnormal tongue morphology	7458	EIF4H	ORPHA:904
HP:0030809	Abnormal tongue morphology	84163	GTF2IRD2	ORPHA:904
HP:0030809	Abnormal tongue morphology	9275	BCL7B	ORPHA:904
HP:0030809	Abnormal tongue morphology	26608	TBL2	ORPHA:904
HP:0030809	Abnormal tongue morphology	653361	NCF1	ORPHA:904
HP:0030809	Abnormal tongue morphology	135886	TMEM270	ORPHA:904
HP:0030809	Abnormal tongue morphology	51085	MLXIPL	ORPHA:904
HP:0030809	Abnormal tongue morphology	9031	BAZ1B	ORPHA:904
HP:0030809	Abnormal tongue morphology	2006	ELN	ORPHA:904
HP:0030809	Abnormal tongue morphology	79753	SNIP1	OMIM:614501
HP:0030809	Abnormal tongue morphology	29925	GMPPB	ORPHA:370959
HP:0030809	Abnormal tongue morphology	29954	POMT2	ORPHA:370959
HP:0030809	Abnormal tongue morphology	29954	POMT2	OMIM:613150
HP:0030809	Abnormal tongue morphology	29954	POMT2	OMIM:613156
HP:0030809	Abnormal tongue morphology	84197	POMK	ORPHA:370959
HP:0030809	Abnormal tongue morphology	55624	POMGNT1	ORPHA:370959
HP:0030809	Abnormal tongue morphology	10585	POMT1	ORPHA:370959
HP:0030809	Abnormal tongue morphology	10585	POMT1	OMIM:613155
HP:0030809	Abnormal tongue morphology	2799	GNS	OMIM:252940
HP:0030809	Abnormal tongue morphology	9215	LARGE1	OMIM:608840
HP:0030809	Abnormal tongue morphology	2239	GPC4	ORPHA:373
HP:0030809	Abnormal tongue morphology	2239	GPC4	OMIM:312870
HP:0030809	Abnormal tongue morphology	2719	GPC3	ORPHA:373
HP:0030809	Abnormal tongue morphology	2719	GPC3	OMIM:312870
HP:0030809	Abnormal tongue morphology	4123	MAN2C1	OMIM:619775
HP:0030809	Abnormal tongue morphology	54941	RNF125	OMIM:616260
HP:0030809	Abnormal tongue morphology	284098	PIGW	OMIM:616025
HP:0030809	Abnormal tongue morphology	10020	GNE	OMIM:269921
HP:0030809	Abnormal tongue morphology	1028	CDKN1C	OMIM:130650
HP:0030809	Abnormal tongue morphology	10984	KCNQ1OT1	OMIM:130650
HP:0030809	Abnormal tongue morphology	3481	IGF2	OMIM:130650
HP:0030809	Abnormal tongue morphology	3784	KCNQ1	OMIM:130650
HP:0030809	Abnormal tongue morphology	5286	PIK3C2A	OMIM:618440
HP:0030809	Abnormal tongue morphology	2990	GUSB	OMIM:253220
HP:0030809	Abnormal tongue morphology	29929	ALG6	ORPHA:79320
HP:0030809	Abnormal tongue morphology	10195	ALG3	ORPHA:79321
HP:0030809	Abnormal tongue morphology	5468	PPARG	ORPHA:528
HP:0030809	Abnormal tongue morphology	10555	AGPAT2	ORPHA:528
HP:0030809	Abnormal tongue morphology	284119	CAVIN1	ORPHA:528
HP:0030809	Abnormal tongue morphology	26580	BSCL2	ORPHA:528
HP:0030809	Abnormal tongue morphology	2353	FOS	ORPHA:528
HP:0030809	Abnormal tongue morphology	857	CAV1	ORPHA:528
HP:0030809	Abnormal tongue morphology	3778	KCNMA1	OMIM:618729
HP:0030809	Abnormal tongue morphology	79053	ALG8	ORPHA:79325
HP:0030809	Abnormal tongue morphology	9742	IFT140	OMIM:266920
HP:0030809	Abnormal tongue morphology	5696	PSMB8	OMIM:256040
HP:0030809	Abnormal tongue morphology	695	BTK	ORPHA:47
HP:0030809	Abnormal tongue morphology	6628	SNRPB	OMIM:117650
HP:0030809	Abnormal tongue morphology	6628	SNRPB	ORPHA:1393
HP:0030809	Abnormal tongue morphology	340419	RSPO2	OMIM:618021
HP:0030809	Abnormal tongue morphology	23483	TGDS	OMIM:616145
HP:0030809	Abnormal tongue morphology	23483	TGDS	ORPHA:1388
HP:0030809	Abnormal tongue morphology	1909	EDNRA	OMIM:616367
HP:0030809	Abnormal tongue morphology	5332	PLCB4	OMIM:614669
HP:0030809	Abnormal tongue morphology	5332	PLCB4	ORPHA:137888
HP:0030809	Abnormal tongue morphology	347734	SLC35B2	OMIM:620269
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:94068
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:166100
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:93346
HP:0030809	Abnormal tongue morphology	1302	COL11A2	ORPHA:1427
HP:0030809	Abnormal tongue morphology	1302	COL11A2	ORPHA:166100
HP:0030809	Abnormal tongue morphology	27125	AFF4	ORPHA:444077
HP:0030809	Abnormal tongue morphology	84172	POLR1B	ORPHA:861
HP:0030809	Abnormal tongue morphology	9533	POLR1C	ORPHA:861
HP:0030809	Abnormal tongue morphology	51082	POLR1D	ORPHA:861
HP:0030809	Abnormal tongue morphology	6949	TCOF1	ORPHA:861
HP:0030809	Abnormal tongue morphology	9896	FIG4	ORPHA:3472
HP:0030809	Abnormal tongue morphology	55697	VAC14	ORPHA:3472
HP:0030809	Abnormal tongue morphology	23114	NFASC	OMIM:618356
HP:0030809	Abnormal tongue morphology	860	RUNX2	ORPHA:1452
HP:0030809	Abnormal tongue morphology	6662	SOX9	ORPHA:718
HP:0030809	Abnormal tongue morphology	9409	PEX16	OMIM:614876
HP:0030809	Abnormal tongue morphology	1906	EDN1	ORPHA:137888
HP:0030809	Abnormal tongue morphology	1906	EDN1	OMIM:615706
HP:0030809	Abnormal tongue morphology	2773	GNAI3	ORPHA:137888
HP:0030809	Abnormal tongue morphology	2773	GNAI3	OMIM:602483
HP:0030809	Abnormal tongue morphology	389827	MYMK	OMIM:254940
HP:0030809	Abnormal tongue morphology	389827	MYMK	ORPHA:1358
HP:0030809	Abnormal tongue morphology	9382	COG1	OMIM:611209
HP:0030809	Abnormal tongue morphology	1301	COL11A1	ORPHA:440354
HP:0030809	Abnormal tongue morphology	2316	FLNA	ORPHA:90652
HP:0030809	Abnormal tongue morphology	8241	RBM10	ORPHA:2886
HP:0030809	Abnormal tongue morphology	8241	RBM10	OMIM:311900
HP:0030809	Abnormal tongue morphology	101929726	MYMX	ORPHA:1358
HP:0030809	Abnormal tongue morphology	2737	GLI3	ORPHA:672
HP:0030809	Abnormal tongue morphology	2737	GLI3	OMIM:146510
HP:0030809	Abnormal tongue morphology	9791	PTDSS1	OMIM:151050
HP:0030809	Abnormal tongue morphology	5396	PRRX1	ORPHA:990
HP:0030809	Abnormal tongue morphology	5396	PRRX1	OMIM:202650
HP:0030809	Abnormal tongue morphology	5015	OTX2	ORPHA:990
HP:0030809	Abnormal tongue morphology	84823	LMNB2	OMIM:616540
HP:0030809	Abnormal tongue morphology	6608	SMO	OMIM:241800
HP:0030809	Abnormal tongue morphology	5932	RBBP8	OMIM:606744
HP:0030809	Abnormal tongue morphology	652	BMP4	OMIM:607932
HP:0030809	Abnormal tongue morphology	6913	TBX15	OMIM:260660
HP:0030809	Abnormal tongue morphology	4591	TRIM37	OMIM:253250
HP:0030809	Abnormal tongue morphology	65250	CPLANE1	OMIM:277170
HP:0030809	Abnormal tongue morphology	65250	CPLANE1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	153241	CEP120	OMIM:616300
HP:0030809	Abnormal tongue morphology	26005	C2CD3	ORPHA:434179
HP:0030809	Abnormal tongue morphology	26005	C2CD3	OMIM:615948
HP:0030809	Abnormal tongue morphology	83479	DDX59	OMIM:174300
HP:0030809	Abnormal tongue morphology	9851	KIAA0753	OMIM:617127
HP:0030809	Abnormal tongue morphology	9851	KIAA0753	ORPHA:2754
HP:0030809	Abnormal tongue morphology	4208	MEF2C	OMIM:613443
HP:0030809	Abnormal tongue morphology	8481	OFD1	OMIM:311200
HP:0030809	Abnormal tongue morphology	8481	OFD1	ORPHA:2750
HP:0030809	Abnormal tongue morphology	8481	OFD1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	79005	SCNM1	OMIM:620107
HP:0030809	Abnormal tongue morphology	10210	TOPORS	ORPHA:2754
HP:0030809	Abnormal tongue morphology	5147	PDE6D	ORPHA:2754
HP:0030809	Abnormal tongue morphology	317662	FAM149B1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	1893	ECM1	ORPHA:530
HP:0030809	Abnormal tongue morphology	5573	PRKAR1A	ORPHA:1359
HP:0030809	Abnormal tongue morphology	50940	PDE11A	ORPHA:1359
HP:0030809	Abnormal tongue morphology	26191	PTPN22	ORPHA:397
HP:0030809	Abnormal tongue morphology	3106	HLA-B	ORPHA:397
HP:0030809	Abnormal tongue morphology	3123	HLA-DRB1	ORPHA:397
HP:0030809	Abnormal tongue morphology	8974	P4HA2	ORPHA:397
HP:0030809	Abnormal tongue morphology	8029	CUBN	ORPHA:35858
HP:0030809	Abnormal tongue morphology	81693	AMN	ORPHA:35858
HP:0030809	Abnormal tongue morphology	340024	SLC6A19	ORPHA:2116
HP:0030809	Abnormal tongue morphology	340024	SLC6A19	OMIM:234500
HP:0030809	Abnormal tongue morphology	57393	CLTRN	ORPHA:2116
HP:0030809	Abnormal tongue morphology	55788	LMBRD1	OMIM:277380
HP:0030809	Abnormal tongue morphology	55788	LMBRD1	ORPHA:79284
HP:0030809	Abnormal tongue morphology	25974	MMACHC	ORPHA:79282
HP:0030809	Abnormal tongue morphology	113235	SLC46A1	ORPHA:90045
HP:0030809	Abnormal tongue morphology	8242	KDM5C	OMIM:300534
HP:0030809	Abnormal tongue morphology	22930	RAB3GAP1	ORPHA:1387
HP:0030809	Abnormal tongue morphology	25782	RAB3GAP2	ORPHA:1387
HP:0030809	Abnormal tongue morphology	81857	MED25	ORPHA:464738
HP:0030809	Abnormal tongue morphology	81857	MED25	OMIM:616449
HP:0030809	Abnormal tongue morphology	26525	IL36RN	OMIM:614204
HP:0030809	Abnormal tongue morphology	3643	INSR	ORPHA:769
HP:0030809	Abnormal tongue morphology	6720	SREBF1	OMIM:158310
HP:0030809	Abnormal tongue morphology	55630	SLC39A4	ORPHA:37
HP:0030809	Abnormal tongue morphology	10483	SEC23B	ORPHA:201
HP:0030809	Abnormal tongue morphology	5728	PTEN	ORPHA:201
HP:0030809	Abnormal tongue morphology	5728	PTEN	OMIM:158350
HP:0030809	Abnormal tongue morphology	6390	SDHB	ORPHA:201
HP:0030809	Abnormal tongue morphology	6392	SDHD	ORPHA:201
HP:0030809	Abnormal tongue morphology	6391	SDHC	ORPHA:201
HP:0030809	Abnormal tongue morphology	207	AKT1	ORPHA:201
HP:0030809	Abnormal tongue morphology	207	AKT1	OMIM:615109
HP:0030809	Abnormal tongue morphology	205717	USF3	ORPHA:201
HP:0030809	Abnormal tongue morphology	5290	PIK3CA	ORPHA:201
HP:0030809	Abnormal tongue morphology	5290	PIK3CA	OMIM:615108
HP:0030809	Abnormal tongue morphology	100144748	KLLN	ORPHA:201
HP:0030809	Abnormal tongue morphology	84314	TMEM107	ORPHA:564
HP:0030809	Abnormal tongue morphology	26123	TCTN3	ORPHA:564
HP:0030809	Abnormal tongue morphology	79867	TCTN2	ORPHA:564
HP:0030809	Abnormal tongue morphology	80776	B9D2	ORPHA:564
HP:0030809	Abnormal tongue morphology	79600	TCTN1	ORPHA:564
HP:0030809	Abnormal tongue morphology	57096	RPGRIP1	ORPHA:564
HP:0030809	Abnormal tongue morphology	79848	CSPP1	ORPHA:564
HP:0030809	Abnormal tongue morphology	80184	CEP290	ORPHA:564
HP:0030809	Abnormal tongue morphology	51259	TMEM216	ORPHA:564
HP:0030809	Abnormal tongue morphology	57545	CC2D2A	ORPHA:564
HP:0030809	Abnormal tongue morphology	79583	TMEM231	ORPHA:564
HP:0030809	Abnormal tongue morphology	91147	TMEM67	ORPHA:564
HP:0030809	Abnormal tongue morphology	79770	TXNDC15	ORPHA:564
HP:0030809	Abnormal tongue morphology	27077	B9D1	ORPHA:564
HP:0030809	Abnormal tongue morphology	23322	RPGRIP1L	ORPHA:564
HP:0030809	Abnormal tongue morphology	54903	MKS1	ORPHA:564
HP:0030809	Abnormal tongue morphology	65062	TMEM237	ORPHA:564
HP:0030809	Abnormal tongue morphology	9427	ECEL1	OMIM:615065
HP:0030809	Abnormal tongue morphology	473	RERE	OMIM:616975
HP:0030809	Abnormal tongue morphology	2706	GJB2	OMIM:148210
HP:0030809	Abnormal tongue morphology	3853	KRT6A	OMIM:615726
HP:0030809	Abnormal tongue morphology	94	ACVRL1	OMIM:600376
HP:0030809	Abnormal tongue morphology	2022	ENG	OMIM:187300
HP:0030809	Abnormal tongue morphology	6660	SOX5	ORPHA:313892
HP:0030809	Abnormal tongue morphology	5980	REV3L	ORPHA:570
HP:0030809	Abnormal tongue morphology	23129	PLXND1	ORPHA:570
HP:0030809	Abnormal tongue morphology	157680	VPS13B	ORPHA:193
HP:0030809	Abnormal tongue morphology	50945	TBX22	OMIM:303400
HP:0030809	Abnormal tongue morphology	8367	H4C5	OMIM:619950
HP:0030809	Abnormal tongue morphology	5457	POU4F1	OMIM:619352
HP:0030809	Abnormal tongue morphology	3899	AFF3	OMIM:619297
HP:0030809	Abnormal tongue morphology	6711	SPTBN1	OMIM:619475
HP:0030809	Abnormal tongue morphology	57479	PRR12	OMIM:619539
HP:0030809	Abnormal tongue morphology	23394	ADNP	OMIM:615873
HP:0030809	Abnormal tongue morphology	9894	TELO2	ORPHA:488642
HP:0030809	Abnormal tongue morphology	8085	KMT2D	OMIM:620186
HP:0030809	Abnormal tongue morphology	4000	LMNA	ORPHA:740
HP:0030809	Abnormal tongue morphology	10269	ZMPSTE24	ORPHA:740
HP:0030809	Abnormal tongue morphology	4312	MMP1	ORPHA:79408
HP:0030809	Abnormal tongue morphology	1294	COL7A1	ORPHA:79408
HP:0030809	Abnormal tongue morphology	1294	COL7A1	ORPHA:89842
HP:0030809	Abnormal tongue morphology	9578	CDC42BPB	OMIM:619841
HP:0030809	Abnormal tongue morphology	613	BCR	ORPHA:261330
HP:0030809	Abnormal tongue morphology	1399	CRKL	ORPHA:261330
HP:0030809	Abnormal tongue morphology	5594	MAPK1	ORPHA:261330
HP:0030809	Abnormal tongue morphology	26040	SETBP1	OMIM:616078
HP:0030809	Abnormal tongue morphology	4281	MID1	ORPHA:2745
HP:0030809	Abnormal tongue morphology	2542	SLC37A4	OMIM:619525
HP:0030809	Abnormal tongue morphology	63901	FAM111A	OMIM:602361
HP:0030809	Abnormal tongue morphology	4920	ROR2	OMIM:268310
HP:0030809	Abnormal tongue morphology	4920	ROR2	ORPHA:1507
HP:0030809	Abnormal tongue morphology	79659	DYNC2H1	OMIM:613091
HP:0030809	Abnormal tongue morphology	79659	DYNC2H1	ORPHA:93271
HP:0030809	Abnormal tongue morphology	341640	FREM2	ORPHA:2052
HP:0030809	Abnormal tongue morphology	80144	FRAS1	ORPHA:2052
HP:0030809	Abnormal tongue morphology	23426	GRIP1	ORPHA:2052
HP:0030809	Abnormal tongue morphology	3190	HNRNPK	OMIM:616580
HP:0030809	Abnormal tongue morphology	3190	HNRNPK	ORPHA:352665
HP:0030809	Abnormal tongue morphology	3190	HNRNPK	ORPHA:453504
HP:0030809	Abnormal tongue morphology	10526	IPO8	OMIM:619472
HP:0030809	Abnormal tongue morphology	54101	RIPK4	ORPHA:1401
HP:0030809	Abnormal tongue morphology	1857	DVL3	ORPHA:3107
HP:0030809	Abnormal tongue morphology	1857	DVL3	OMIM:616894
HP:0030809	Abnormal tongue morphology	7474	WNT5A	ORPHA:3107
HP:0030809	Abnormal tongue morphology	7474	WNT5A	OMIM:180700
HP:0030809	Abnormal tongue morphology	1855	DVL1	ORPHA:3107
HP:0030809	Abnormal tongue morphology	1855	DVL1	OMIM:180700
HP:0030809	Abnormal tongue morphology	2535	FZD2	ORPHA:3107
HP:0030809	Abnormal tongue morphology	64359	NXN	ORPHA:1507
HP:0030809	Abnormal tongue morphology	4750	NEK1	ORPHA:2751
HP:0030809	Abnormal tongue morphology	257	ALX3	ORPHA:391474
HP:0030809	Abnormal tongue morphology	55112	DYNC2I1	ORPHA:93271
HP:0030809	Abnormal tongue morphology	57560	IFT80	ORPHA:93271
HP:0030809	Abnormal tongue morphology	57539	WDR35	ORPHA:93271
HP:0030809	Abnormal tongue morphology	89891	DYNC2I2	ORPHA:93271
HP:0030809	Abnormal tongue morphology	55784	MCTP2	ORPHA:1596
HP:0030809	Abnormal tongue morphology	1717	DHCR7	ORPHA:818
HP:0030809	Abnormal tongue morphology	3977	LIFR	ORPHA:3206
HP:0030809	Abnormal tongue morphology	3977	LIFR	OMIM:601559
HP:0030809	Abnormal tongue morphology	3852	KRT5	ORPHA:79396
HP:0030809	Abnormal tongue morphology	3861	KRT14	ORPHA:79396
HP:0030809	Abnormal tongue morphology	80326	WNT10A	OMIM:257980
HP:0030809	Abnormal tongue morphology	1789	DNMT3B	OMIM:242860
HP:0030809	Abnormal tongue morphology	1789	DNMT3B	ORPHA:2268
HP:0030809	Abnormal tongue morphology	7337	UBE3A	ORPHA:98794
HP:0030809	Abnormal tongue morphology	7337	UBE3A	ORPHA:98795
HP:0030809	Abnormal tongue morphology	7337	UBE3A	OMIM:105830
HP:0030809	Abnormal tongue morphology	7337	UBE3A	ORPHA:411511
HP:0030809	Abnormal tongue morphology	4948	OCA2	ORPHA:98794
HP:0030809	Abnormal tongue morphology	9488	PIGB	OMIM:618580
HP:0030809	Abnormal tongue morphology	9321	TRIP11	OMIM:200600
HP:0030809	Abnormal tongue morphology	91949	COG7	OMIM:608779
HP:0030809	Abnormal tongue morphology	4001	LMNB1	OMIM:619179
HP:0030809	Abnormal tongue morphology	546	ATRX	OMIM:309580
HP:0030809	Abnormal tongue morphology	546	ATRX	OMIM:301040
HP:0030809	Abnormal tongue morphology	29957	SLC25A24	OMIM:612289
HP:0030809	Abnormal tongue morphology	23219	FBXO28	OMIM:619777
HP:0030809	Abnormal tongue morphology	6418	SET	OMIM:618106
HP:0030809	Abnormal tongue morphology	9378	NRXN1	OMIM:614325
HP:0030809	Abnormal tongue morphology	2720	GLB1	OMIM:230600
HP:0030809	Abnormal tongue morphology	56623	INPP5E	OMIM:213300
HP:0030809	Abnormal tongue morphology	79813	EHMT1	ORPHA:96147
HP:0030809	Abnormal tongue morphology	79813	EHMT1	OMIM:610253
HP:0030809	Abnormal tongue morphology	9289	ADGRG1	ORPHA:98889
HP:0030809	Abnormal tongue morphology	5297	PI4KA	ORPHA:98889
HP:0030809	Abnormal tongue morphology	27286	SRPX2	ORPHA:98889
HP:0030809	Abnormal tongue morphology	6638	SNRPN	OMIM:105830
HP:0030809	Abnormal tongue morphology	6872	TAF1	ORPHA:53351
HP:0030809	Abnormal tongue morphology	4758	NEU1	ORPHA:93399
HP:0030809	Abnormal tongue morphology	4758	NEU1	ORPHA:93400
HP:0030809	Abnormal tongue morphology	2898	GRIK2	OMIM:619580
HP:0030809	Abnormal tongue morphology	1457	CSNK2A1	OMIM:617062
HP:0030809	Abnormal tongue morphology	4784	NFIX	ORPHA:561
HP:0030809	Abnormal tongue morphology	374879	ZNF699	OMIM:619488
HP:0030809	Abnormal tongue morphology	1193	CLIC2	ORPHA:324410
HP:0030809	Abnormal tongue morphology	374654	KIF7	OMIM:200990
HP:0030809	Abnormal tongue morphology	5745	PTH1R	ORPHA:50945
HP:0030809	Abnormal tongue morphology	2623	GATA1	OMIM:190685
HP:0030809	Abnormal tongue morphology	253959	RALGAPA1	OMIM:618797
HP:0030809	Abnormal tongue morphology	28952	CCDC22	OMIM:300963
HP:0030809	Abnormal tongue morphology	3070	HELLS	ORPHA:2268
HP:0030809	Abnormal tongue morphology	83879	CDCA7	ORPHA:2268
HP:0030809	Abnormal tongue morphology	9841	ZBTB24	ORPHA:2268
HP:0030809	Abnormal tongue morphology	23230	VPS13A	ORPHA:2388
HP:0030809	Abnormal tongue morphology	22907	DHX30	OMIM:617804
HP:0030809	Abnormal tongue morphology	1460	CSNK2B	OMIM:618732
HP:0030809	Abnormal tongue morphology	4247	MGAT2	OMIM:212066
HP:0030809	Abnormal tongue morphology	3908	LAMA2	ORPHA:258
HP:0030809	Abnormal tongue morphology	5189	PEX1	OMIM:214100
HP:0030809	Abnormal tongue morphology	1759	DNM1	OMIM:620352
HP:0030809	Abnormal tongue morphology	55343	SLC35C1	ORPHA:99843
HP:0030809	Abnormal tongue morphology	79068	FTO	OMIM:612938
HP:0030809	Abnormal tongue morphology	56975	FAM20C	OMIM:259775
HP:0030809	Abnormal tongue morphology	79628	SH3TC2	OMIM:601596
HP:0030809	Abnormal tongue morphology	79628	SH3TC2	ORPHA:99949
HP:0030809	Abnormal tongue morphology	2483	FRG1	OMIM:158900
HP:0030809	Abnormal tongue morphology	80025	PANK2	ORPHA:216873
HP:0030809	Abnormal tongue morphology	2934	GSN	ORPHA:85448
HP:0030809	Abnormal tongue morphology	339855	KY	OMIM:617114
HP:0030809	Abnormal tongue morphology	339855	KY	ORPHA:496689
HP:0030809	Abnormal tongue morphology	3508	IGHMBP2	OMIM:616155
HP:0030809	Abnormal tongue morphology	10528	NOP56	OMIM:614153
HP:0030809	Abnormal tongue morphology	10528	NOP56	ORPHA:276198
HP:0030809	Abnormal tongue morphology	22880	MORC2	ORPHA:466768
HP:0030809	Abnormal tongue morphology	10133	OPTN	OMIM:613435
HP:0030809	Abnormal tongue morphology	51010	EXOSC3	OMIM:614678
HP:0030809	Abnormal tongue morphology	81846	SBF2	ORPHA:99956
HP:0030809	Abnormal tongue morphology	4747	NEFL	ORPHA:101085
HP:0030809	Abnormal tongue morphology	113278	SLC52A3	OMIM:211530
HP:0030809	Abnormal tongue morphology	285489	DOK7	OMIM:254300
HP:0030809	Abnormal tongue morphology	55679	LIMS2	OMIM:616827
HP:0030809	Abnormal tongue morphology	5317	PKP1	ORPHA:158668
HP:0030810	Abnormal tongue physiology	55149	MTPAP	ORPHA:254343
HP:0030810	Abnormal tongue physiology	10382	TUBB4A	ORPHA:98805
HP:0030810	Abnormal tongue physiology	2548	GAA	ORPHA:308552
HP:0030810	Abnormal tongue physiology	23400	ATP13A2	ORPHA:306674
HP:0030810	Abnormal tongue physiology	57679	ALS2	OMIM:205100
HP:0030810	Abnormal tongue physiology	57679	ALS2	OMIM:606353
HP:0030810	Abnormal tongue physiology	79628	SH3TC2	ORPHA:99949
HP:0030810	Abnormal tongue physiology	1906	EDN1	ORPHA:137888
HP:0030810	Abnormal tongue physiology	5332	PLCB4	ORPHA:137888
HP:0030810	Abnormal tongue physiology	2773	GNAI3	ORPHA:137888
HP:0030810	Abnormal tongue physiology	81846	SBF2	ORPHA:99956
HP:0030810	Abnormal tongue physiology	80144	FRAS1	OMIM:219000
HP:0030810	Abnormal tongue physiology	10755	GIPC1	ORPHA:98897
HP:0030810	Abnormal tongue physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0030810	Abnormal tongue physiology	8518	ELP1	OMIM:223900
HP:0030810	Abnormal tongue physiology	54463	RETREG1	OMIM:201300
HP:0030810	Abnormal tongue physiology	65125	WNK1	OMIM:201300
HP:0030810	Abnormal tongue physiology	6335	SCN9A	OMIM:201300
HP:0030810	Abnormal tongue physiology	547	KIF1A	OMIM:201300
HP:0030810	Abnormal tongue physiology	55630	SLC39A4	OMIM:201100
HP:0030810	Abnormal tongue physiology	9131	AIFM1	ORPHA:238329
HP:0030810	Abnormal tongue physiology	9131	AIFM1	OMIM:300816
HP:0030810	Abnormal tongue physiology	10558	SPTLC1	OMIM:162400
HP:0030810	Abnormal tongue physiology	427	ASAH1	OMIM:159950
HP:0030810	Abnormal tongue physiology	6904	TBCD	OMIM:617193
HP:0030810	Abnormal tongue physiology	11340	EXOSC8	OMIM:616081
HP:0030810	Abnormal tongue physiology	11340	EXOSC8	ORPHA:2254
HP:0030810	Abnormal tongue physiology	23250	ATP11A	OMIM:619851
HP:0030810	Abnormal tongue physiology	5393	EXOSC9	OMIM:618065
HP:0030810	Abnormal tongue physiology	5393	EXOSC9	ORPHA:2254
HP:0030810	Abnormal tongue physiology	4724	NDUFS4	OMIM:252010
HP:0030810	Abnormal tongue physiology	7317	UBA1	ORPHA:1145
HP:0030810	Abnormal tongue physiology	7317	UBA1	OMIM:301830
HP:0030810	Abnormal tongue physiology	10133	OPTN	OMIM:613435
HP:0030810	Abnormal tongue physiology	64856	VWA1	OMIM:619216
HP:0030810	Abnormal tongue physiology	203190	LGI3	OMIM:620007
HP:0030810	Abnormal tongue physiology	55005	RMND1	OMIM:614922
HP:0030810	Abnormal tongue physiology	7415	VCP	ORPHA:329475
HP:0030810	Abnormal tongue physiology	23287	AGTPBP1	ORPHA:2254
HP:0030810	Abnormal tongue physiology	23287	AGTPBP1	OMIM:618276
HP:0030810	Abnormal tongue physiology	51010	EXOSC3	ORPHA:2254
HP:0030810	Abnormal tongue physiology	51010	EXOSC3	OMIM:614678
HP:0030810	Abnormal tongue physiology	7443	VRK1	ORPHA:2254
HP:0030810	Abnormal tongue physiology	7443	VRK1	OMIM:607596
HP:0030810	Abnormal tongue physiology	91137	SLC25A46	ORPHA:2254
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:271150
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253300
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253400
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253550
HP:0030810	Abnormal tongue physiology	8087	FXR1	OMIM:618822
HP:0030810	Abnormal tongue physiology	8087	FXR1	OMIM:618823
HP:0030810	Abnormal tongue physiology	114034	TOE1	OMIM:614969
HP:0030810	Abnormal tongue physiology	6607	SMN2	OMIM:253400
HP:0030810	Abnormal tongue physiology	79581	SLC52A2	OMIM:614707
HP:0030810	Abnormal tongue physiology	773	CACNA1A	ORPHA:569
HP:0030810	Abnormal tongue physiology	112476	PRRT2	ORPHA:569
HP:0030810	Abnormal tongue physiology	6323	SCN1A	ORPHA:569
HP:0030810	Abnormal tongue physiology	477	ATP1A2	ORPHA:569
HP:0030810	Abnormal tongue physiology	54936	ADPRS	OMIM:618170
HP:0030810	Abnormal tongue physiology	7259	TSPYL1	OMIM:608800
HP:0030810	Abnormal tongue physiology	127833	SYT2	OMIM:619461
HP:0030810	Abnormal tongue physiology	10528	NOP56	OMIM:614153
HP:0030810	Abnormal tongue physiology	10528	NOP56	ORPHA:276198
HP:0030810	Abnormal tongue physiology	51305	KCNK9	ORPHA:166108
HP:0030810	Abnormal tongue physiology	84466	MEGF10	OMIM:614399
HP:0030810	Abnormal tongue physiology	58497	PRUNE1	ORPHA:544469
HP:0030810	Abnormal tongue physiology	400916	CHCHD10	ORPHA:276435
HP:0030810	Abnormal tongue physiology	89874	SLC25A21	OMIM:618811
HP:0030810	Abnormal tongue physiology	4359	MPZ	OMIM:145900
HP:0030810	Abnormal tongue physiology	5376	PMP22	OMIM:145900
HP:0030810	Abnormal tongue physiology	1959	EGR2	OMIM:145900
HP:0030810	Abnormal tongue physiology	57716	PRX	OMIM:145900
HP:0030810	Abnormal tongue physiology	113278	SLC52A3	OMIM:211530
HP:0030810	Abnormal tongue physiology	8831	SYNGAP1	ORPHA:544254
HP:0030810	Abnormal tongue physiology	4914	NTRK1	ORPHA:642
HP:0004960	Absent pulmonary artery	10491	CRTAP	OMIM:610682
HP:0004961	Pulmonary artery sling	9839	ZEB2	ORPHA:261537
HP:0004961	Pulmonary artery sling	9839	ZEB2	ORPHA:261552
HP:0004961	Pulmonary artery sling	9839	ZEB2	OMIM:235730
HP:0004961	Pulmonary artery sling	55181	SMG8	OMIM:619268
HP:0004962	Thoracic aorta calcification	4851	NOTCH1	ORPHA:402075
HP:0004962	Thoracic aorta calcification	1482	NKX2-5	ORPHA:402075
HP:0004962	Thoracic aorta calcification	140628	GATA5	ORPHA:402075
HP:0004962	Thoracic aorta calcification	4091	SMAD6	ORPHA:402075
HP:0004962	Thoracic aorta calcification	64135	IFIH1	OMIM:182250
HP:0004963	Calcification of the aorta	4851	NOTCH1	ORPHA:402075
HP:0004963	Calcification of the aorta	1482	NKX2-5	ORPHA:402075
HP:0004963	Calcification of the aorta	140628	GATA5	ORPHA:402075
HP:0004963	Calcification of the aorta	3949	LDLR	ORPHA:391665
HP:0004963	Calcification of the aorta	255738	PCSK9	ORPHA:391665
HP:0004963	Calcification of the aorta	26119	LDLRAP1	ORPHA:391665
HP:0004963	Calcification of the aorta	338	APOB	ORPHA:391665
HP:0004963	Calcification of the aorta	64240	ABCG5	ORPHA:391665
HP:0004963	Calcification of the aorta	64241	ABCG8	ORPHA:391665
HP:0004963	Calcification of the aorta	2629	GBA1	OMIM:231005
HP:0004963	Calcification of the aorta	2629	GBA1	ORPHA:2072
HP:0004963	Calcification of the aorta	4091	SMAD6	OMIM:614823
HP:0004963	Calcification of the aorta	10568	SLC34A2	ORPHA:60025
HP:0004963	Calcification of the aorta	10535	RNASEH2A	ORPHA:51
HP:0004963	Calcification of the aorta	84153	RNASEH2C	ORPHA:51
HP:0004963	Calcification of the aorta	25939	SAMHD1	ORPHA:51
HP:0004963	Calcification of the aorta	79621	RNASEH2B	ORPHA:51
HP:0004963	Calcification of the aorta	103	ADAR	ORPHA:51
HP:0004963	Calcification of the aorta	11277	TREX1	ORPHA:51
HP:0004963	Calcification of the aorta	100147744	RNU7-1	ORPHA:51
HP:0004963	Calcification of the aorta	134353	LSM11	ORPHA:51
HP:0004963	Calcification of the aorta	64135	IFIH1	ORPHA:51
HP:0004963	Calcification of the aorta	5167	ENPP1	ORPHA:51608
HP:0004963	Calcification of the aorta	368	ABCC6	ORPHA:51608
HP:0004966	Medial calcification of large arteries	6772	STAT1	ORPHA:391487
HP:0004966	Medial calcification of large arteries	10043	TOM1	ORPHA:391487
HP:0004966	Medial calcification of large arteries	368	ABCC6	OMIM:177850
HP:0004966	Medial calcification of large arteries	368	ABCC6	ORPHA:51608
HP:0004966	Medial calcification of large arteries	5167	ENPP1	ORPHA:51608
HP:0004968	Recurrent cerebral hemorrhage	351	APP	OMIM:605714
HP:0030816	Gingival recession	1075	CTSC	OMIM:170650
HP:0030816	Gingival recession	715	C1R	OMIM:130080
HP:0030816	Gingival recession	1832	DSP	OMIM:615821
HP:0030816	Gingival recession	9896	FIG4	ORPHA:3472
HP:0030816	Gingival recession	55697	VAC14	ORPHA:3472
HP:0030816	Gingival recession	1281	COL3A1	OMIM:618343
HP:0030816	Gingival recession	716	C1S	OMIM:617174
HP:0030814	Orange discolored tonsils	19	ABCA1	ORPHA:31150
HP:0030813	Absent tonsils	100	ADA	ORPHA:277
HP:0030813	Absent tonsils	3561	IL2RG	ORPHA:276
HP:0030813	Absent tonsils	64421	DCLRE1C	OMIM:602450
HP:0030812	Enlarged tonsils	5295	PIK3R1	OMIM:616005
HP:0030812	Enlarged tonsils	3423	IDS	ORPHA:217085
HP:0030812	Enlarged tonsils	3423	IDS	ORPHA:217093
HP:0030812	Enlarged tonsils	208	AKT2	ORPHA:293964
HP:0030812	Enlarged tonsils	3425	IDUA	OMIM:607014
HP:0030812	Enlarged tonsils	3559	IL2RA	OMIM:606367
HP:0030812	Enlarged tonsils	959	CD40LG	OMIM:308230
HP:0030812	Enlarged tonsils	760	CA2	ORPHA:2785
HP:0030811	Tongue pain	4914	NTRK1	ORPHA:642
HP:0030820	Hooded eyelid	55553	SOX6	OMIM:618971
HP:0030820	Hooded eyelid	164	AP1G1	OMIM:619467
HP:0030820	Hooded eyelid	9578	CDC42BPB	OMIM:619841
HP:0030820	Hooded eyelid	9126	SMC3	OMIM:610759
HP:0030820	Hooded eyelid	57479	PRR12	OMIM:619539
HP:0030820	Hooded eyelid	9091	PIGQ	OMIM:618548
HP:0030820	Hooded eyelid	101929726	MYMX	OMIM:619941
HP:0004971	Pulmonary artery hypoplasia	10293	TRAIP	OMIM:616777
HP:0004971	Pulmonary artery hypoplasia	10157	AASS	ORPHA:2203
HP:0004971	Pulmonary artery hypoplasia	4625	MYH7	OMIM:613426
HP:0004971	Pulmonary artery hypoplasia	137814	NKX2-6	ORPHA:3384
HP:0004971	Pulmonary artery hypoplasia	23129	PLXND1	ORPHA:3384
HP:0004971	Pulmonary artery hypoplasia	8854	ALDH1A2	OMIM:620025
HP:0004971	Pulmonary artery hypoplasia	4256	MGP	OMIM:245150
HP:0004971	Pulmonary artery hypoplasia	118856	MMP21	OMIM:616749
HP:0004971	Pulmonary artery hypoplasia	28952	CCDC22	OMIM:300963
HP:0004972	Elevated mean arterial pressure	4846	NOS3	OMIM:145500
HP:0004972	Elevated mean arterial pressure	1889	ECE1	OMIM:145500
HP:0004972	Elevated mean arterial pressure	1577	CYP3A5	OMIM:145500
HP:0004972	Elevated mean arterial pressure	2784	GNB3	OMIM:145500
HP:0004972	Elevated mean arterial pressure	8490	RGS5	OMIM:145500
HP:0004972	Elevated mean arterial pressure	5740	PTGIS	OMIM:145500
HP:0004972	Elevated mean arterial pressure	118	ADD1	OMIM:145500
HP:0004972	Elevated mean arterial pressure	481	ATP1B1	OMIM:145500
HP:0004972	Elevated mean arterial pressure	185	AGTR1	OMIM:145500
HP:0004972	Elevated mean arterial pressure	183	AGT	OMIM:145500
HP:0200003	Splayed epiphyses	1280	COL2A1	OMIM:156550
HP:0004979	Metaphyseal sclerosis	80169	CTC1	OMIM:612199
HP:0004979	Metaphyseal sclerosis	9401	RECQL4	ORPHA:221016
HP:0004979	Metaphyseal sclerosis	54	ACP5	OMIM:607944
HP:0004979	Metaphyseal sclerosis	1300	COL10A1	OMIM:156500
HP:0004979	Metaphyseal sclerosis	4322	MMP13	OMIM:250400
HP:0004979	Metaphyseal sclerosis	1062	CENPE	OMIM:616051
HP:0004979	Metaphyseal sclerosis	51119	SBDS	OMIM:260400
HP:0004979	Metaphyseal sclerosis	134218	DNAJC21	OMIM:260400
HP:0004979	Metaphyseal sclerosis	6729	SRP54	OMIM:260400
HP:0004979	Metaphyseal sclerosis	64682	ANAPC1	ORPHA:221008
HP:0004979	Metaphyseal sclerosis	3835	KIF22	OMIM:603546
HP:0004979	Metaphyseal sclerosis	1280	COL2A1	OMIM:184250
HP:0030829	Abnormal breath sound	3835	KIF22	ORPHA:93360
HP:0030829	Abnormal breath sound	11340	EXOSC8	ORPHA:2254
HP:0030829	Abnormal breath sound	5393	EXOSC9	ORPHA:2254
HP:0030829	Abnormal breath sound	23287	AGTPBP1	ORPHA:2254
HP:0030829	Abnormal breath sound	51010	EXOSC3	ORPHA:2254
HP:0030829	Abnormal breath sound	7443	VRK1	ORPHA:2254
HP:0030829	Abnormal breath sound	91137	SLC25A46	ORPHA:2254
HP:0030829	Abnormal breath sound	5354	PLP1	OMIM:312080
HP:0030829	Abnormal breath sound	23114	NFASC	OMIM:618356
HP:0030829	Abnormal breath sound	80199	FUZ	ORPHA:1136
HP:0030829	Abnormal breath sound	406932	MIR140	OMIM:618618
HP:0030829	Abnormal breath sound	9997	SCO2	OMIM:604377
HP:0030829	Abnormal breath sound	6329	SCN4A	OMIM:168300
HP:0030829	Abnormal breath sound	728294	D2HGDH	OMIM:600721
HP:0030829	Abnormal breath sound	710	SERPING1	ORPHA:100050
HP:0030829	Abnormal breath sound	3508	IGHMBP2	OMIM:604320
HP:0030829	Abnormal breath sound	113278	SLC52A3	OMIM:211500
HP:0030829	Abnormal breath sound	79158	GNPTAB	ORPHA:576
HP:0030829	Abnormal breath sound	4784	NFIX	OMIM:602535
HP:0030829	Abnormal breath sound	2316	FLNA	OMIM:305620
HP:0030829	Abnormal breath sound	65082	VPS33A	ORPHA:505248
HP:0030829	Abnormal breath sound	57128	LYRM4	OMIM:615595
HP:0030829	Abnormal breath sound	182	JAG1	OMIM:619574
HP:0030829	Abnormal breath sound	59341	TRPV4	OMIM:606071
HP:0030829	Abnormal breath sound	59341	TRPV4	OMIM:181405
HP:0030829	Abnormal breath sound	6885	MAP3K7	OMIM:617137
HP:0030829	Abnormal breath sound	775	CACNA1C	OMIM:620029
HP:0030829	Abnormal breath sound	27235	COQ2	ORPHA:227510
HP:0030829	Abnormal breath sound	27235	COQ2	ORPHA:98933
HP:0030829	Abnormal breath sound	6571	SLC18A2	ORPHA:352649
HP:0030829	Abnormal breath sound	3909	LAMA3	ORPHA:79404
HP:0030829	Abnormal breath sound	3918	LAMC2	ORPHA:79404
HP:0030829	Abnormal breath sound	3914	LAMB3	ORPHA:79404
HP:0030829	Abnormal breath sound	1513	CTSK	ORPHA:763
HP:0030829	Abnormal breath sound	7849	PAX8	OMIM:218700
HP:0030829	Abnormal breath sound	7259	TSPYL1	OMIM:608800
HP:0030829	Abnormal breath sound	2629	GBA1	OMIM:230900
HP:0030829	Abnormal breath sound	60482	SLC5A7	OMIM:617143
HP:0030829	Abnormal breath sound	60482	SLC5A7	ORPHA:98914
HP:0030829	Abnormal breath sound	6576	SLC25A1	OMIM:615182
HP:0030829	Abnormal breath sound	6576	SLC25A1	ORPHA:98914
HP:0030829	Abnormal breath sound	91179	SCARF2	OMIM:600920
HP:0030829	Abnormal breath sound	667	DST	OMIM:614653
HP:0030829	Abnormal breath sound	4281	MID1	ORPHA:2745
HP:0030829	Abnormal breath sound	2782	GNB1	OMIM:616973
HP:0030829	Abnormal breath sound	4649	MYO9A	ORPHA:98914
HP:0030829	Abnormal breath sound	1305	COL13A1	ORPHA:98914
HP:0030829	Abnormal breath sound	1103	CHAT	ORPHA:98914
HP:0030829	Abnormal breath sound	6843	VAMP1	ORPHA:98914
HP:0030829	Abnormal breath sound	375790	AGRN	ORPHA:98914
HP:0030829	Abnormal breath sound	127833	SYT2	ORPHA:98914
HP:0030829	Abnormal breath sound	6572	SLC18A3	ORPHA:98914
HP:0030829	Abnormal breath sound	6616	SNAP25	ORPHA:98914
HP:0030829	Abnormal breath sound	6662	SOX9	OMIM:114290
HP:0030829	Abnormal breath sound	84705	GTPBP3	ORPHA:444013
HP:0030829	Abnormal breath sound	695	BTK	OMIM:300755
HP:0030829	Abnormal breath sound	5265	SERPINA1	OMIM:613490
HP:0030829	Abnormal breath sound	25981	DNAH1	OMIM:617577
HP:0030829	Abnormal breath sound	25981	DNAH1	ORPHA:244
HP:0030829	Abnormal breath sound	5557	PRIM1	OMIM:620005
HP:0030829	Abnormal breath sound	5205	ATP8B1	OMIM:211600
HP:0030829	Abnormal breath sound	115948	ODAD3	ORPHA:244
HP:0030829	Abnormal breath sound	54768	HYDIN	ORPHA:244
HP:0030829	Abnormal breath sound	352909	DNAAF3	ORPHA:244
HP:0030829	Abnormal breath sound	27148	STK36	ORPHA:244
HP:0030829	Abnormal breath sound	51314	NME8	ORPHA:244
HP:0030829	Abnormal breath sound	92749	DRC1	ORPHA:244
HP:0030829	Abnormal breath sound	54970	TTC12	ORPHA:244
HP:0030829	Abnormal breath sound	152110	NEK10	ORPHA:244
HP:0030829	Abnormal breath sound	8481	OFD1	ORPHA:244
HP:0030829	Abnormal breath sound	2302	FOXJ1	ORPHA:244
HP:0030829	Abnormal breath sound	221421	RSPH9	ORPHA:244
HP:0030829	Abnormal breath sound	85478	CCDC65	ORPHA:244
HP:0030829	Abnormal breath sound	55036	CCDC40	ORPHA:244
HP:0030829	Abnormal breath sound	55036	CCDC40	OMIM:613808
HP:0030829	Abnormal breath sound	51364	ZMYND10	ORPHA:244
HP:0030829	Abnormal breath sound	64446	DNAI2	ORPHA:244
HP:0030829	Abnormal breath sound	6674	SPAG1	ORPHA:244
HP:0030829	Abnormal breath sound	83544	DNAL1	ORPHA:244
HP:0030829	Abnormal breath sound	89765	RSPH1	ORPHA:244
HP:0030829	Abnormal breath sound	83538	ODAD4	ORPHA:244
HP:0030829	Abnormal breath sound	200373	CFAP221	ORPHA:244
HP:0030829	Abnormal breath sound	374407	DNAJB13	ORPHA:244
HP:0030829	Abnormal breath sound	55172	DNAAF2	ORPHA:244
HP:0030829	Abnormal breath sound	161582	DNAAF4	ORPHA:244
HP:0030829	Abnormal breath sound	2622	GAS8	ORPHA:244
HP:0030829	Abnormal breath sound	23639	DNAAF11	ORPHA:244
HP:0030829	Abnormal breath sound	27019	DNAI1	ORPHA:244
HP:0030829	Abnormal breath sound	345895	RSPH4A	ORPHA:244
HP:0030829	Abnormal breath sound	54919	DNAAF5	ORPHA:244
HP:0030829	Abnormal breath sound	6103	RPGR	ORPHA:244
HP:0030829	Abnormal breath sound	388389	CCDC103	ORPHA:244
HP:0030829	Abnormal breath sound	93233	ODAD1	ORPHA:244
HP:0030829	Abnormal breath sound	55130	ODAD2	ORPHA:244
HP:0030829	Abnormal breath sound	1767	DNAH5	ORPHA:244
HP:0030829	Abnormal breath sound	83861	RSPH3	ORPHA:244
HP:0030829	Abnormal breath sound	345643	MCIDAS	ORPHA:244
HP:0030829	Abnormal breath sound	56683	CFAP298	ORPHA:244
HP:0030829	Abnormal breath sound	79925	SPEF2	ORPHA:244
HP:0030829	Abnormal breath sound	10309	CCNO	ORPHA:244
HP:0030829	Abnormal breath sound	115399	LRRC56	ORPHA:244
HP:0030829	Abnormal breath sound	139212	DNAAF6	ORPHA:244
HP:0030829	Abnormal breath sound	123872	DNAAF1	ORPHA:244
HP:0030829	Abnormal breath sound	85016	CFAP300	ORPHA:244
HP:0030829	Abnormal breath sound	339829	CCDC39	ORPHA:244
HP:0030829	Abnormal breath sound	339829	CCDC39	OMIM:613807
HP:0030829	Abnormal breath sound	8701	DNAH11	ORPHA:244
HP:0030829	Abnormal breath sound	1770	DNAH9	ORPHA:244
HP:0030829	Abnormal breath sound	246176	GAS2L2	ORPHA:244
HP:0030829	Abnormal breath sound	2214	FCGR3A	OMIM:615707
HP:0030829	Abnormal breath sound	3119	HLA-DQB1	ORPHA:930
HP:0030829	Abnormal breath sound	9244	CRLF1	ORPHA:930
HP:0030829	Abnormal breath sound	3117	HLA-DQA1	ORPHA:930
HP:0030829	Abnormal breath sound	4842	NOS1	ORPHA:930
HP:0030829	Abnormal breath sound	1439	CSF2RB	ORPHA:264675
HP:0030829	Abnormal breath sound	1438	CSF2RA	ORPHA:264675
HP:0030829	Abnormal breath sound	653509	SFTPA1	OMIM:619611
HP:0030829	Abnormal breath sound	653509	SFTPA1	ORPHA:2032
HP:0030829	Abnormal breath sound	6340	SCNN1G	ORPHA:60033
HP:0030829	Abnormal breath sound	1080	CFTR	ORPHA:60033
HP:0030829	Abnormal breath sound	6337	SCNN1A	ORPHA:60033
HP:0030829	Abnormal breath sound	6338	SCNN1B	ORPHA:60033
HP:0030829	Abnormal breath sound	7015	TERT	OMIM:614742
HP:0030829	Abnormal breath sound	7015	TERT	ORPHA:2032
HP:0030829	Abnormal breath sound	6440	SFTPC	ORPHA:2032
HP:0030829	Abnormal breath sound	729238	SFTPA2	ORPHA:2032
HP:0030829	Abnormal breath sound	79991	STN1	ORPHA:2032
HP:0030829	Abnormal breath sound	21	ABCA3	ORPHA:2032
HP:0030829	Abnormal breath sound	1832	DSP	ORPHA:2032
HP:0030829	Abnormal breath sound	727897	MUC5B	ORPHA:2032
HP:0030829	Abnormal breath sound	10144	FAM13A	ORPHA:2032
HP:0030829	Abnormal breath sound	23250	ATP11A	ORPHA:2032
HP:0030829	Abnormal breath sound	91039	DPP9	ORPHA:2032
HP:0030829	Abnormal breath sound	51750	RTEL1	ORPHA:2032
HP:0030829	Abnormal breath sound	7012	TERC	ORPHA:2032
HP:0030829	Abnormal breath sound	5073	PARN	ORPHA:2032
HP:0030829	Abnormal breath sound	3123	HLA-DRB1	ORPHA:747
HP:0030829	Abnormal breath sound	6261	RYR1	ORPHA:466650
HP:0030829	Abnormal breath sound	10551	AGR2	OMIM:620233
HP:0030829	Abnormal breath sound	7080	NKX2-1	OMIM:610978
HP:0030828	Wheezing	695	BTK	OMIM:300755
HP:0030828	Wheezing	5265	SERPINA1	OMIM:613490
HP:0030828	Wheezing	6340	SCNN1G	ORPHA:60033
HP:0030828	Wheezing	6340	SCNN1G	ORPHA:171876
HP:0030828	Wheezing	1080	CFTR	ORPHA:60033
HP:0030828	Wheezing	6337	SCNN1A	ORPHA:60033
HP:0030828	Wheezing	6337	SCNN1A	ORPHA:171876
HP:0030828	Wheezing	6338	SCNN1B	ORPHA:60033
HP:0030828	Wheezing	6338	SCNN1B	ORPHA:171876
HP:0030828	Wheezing	25981	DNAH1	OMIM:617577
HP:0030828	Wheezing	25981	DNAH1	ORPHA:244
HP:0030828	Wheezing	5557	PRIM1	OMIM:620005
HP:0030828	Wheezing	5205	ATP8B1	OMIM:211600
HP:0030828	Wheezing	115948	ODAD3	ORPHA:244
HP:0030828	Wheezing	54768	HYDIN	ORPHA:244
HP:0030828	Wheezing	352909	DNAAF3	ORPHA:244
HP:0030828	Wheezing	27148	STK36	ORPHA:244
HP:0030828	Wheezing	51314	NME8	ORPHA:244
HP:0030828	Wheezing	92749	DRC1	ORPHA:244
HP:0030828	Wheezing	54970	TTC12	ORPHA:244
HP:0030828	Wheezing	152110	NEK10	ORPHA:244
HP:0030828	Wheezing	8481	OFD1	ORPHA:244
HP:0030828	Wheezing	2302	FOXJ1	ORPHA:244
HP:0030828	Wheezing	221421	RSPH9	ORPHA:244
HP:0030828	Wheezing	85478	CCDC65	ORPHA:244
HP:0030828	Wheezing	55036	CCDC40	ORPHA:244
HP:0030828	Wheezing	55036	CCDC40	OMIM:613808
HP:0030828	Wheezing	51364	ZMYND10	ORPHA:244
HP:0030828	Wheezing	64446	DNAI2	ORPHA:244
HP:0030828	Wheezing	6674	SPAG1	ORPHA:244
HP:0030828	Wheezing	83544	DNAL1	ORPHA:244
HP:0030828	Wheezing	89765	RSPH1	ORPHA:244
HP:0030828	Wheezing	83538	ODAD4	ORPHA:244
HP:0030828	Wheezing	200373	CFAP221	ORPHA:244
HP:0030828	Wheezing	374407	DNAJB13	ORPHA:244
HP:0030828	Wheezing	55172	DNAAF2	ORPHA:244
HP:0030828	Wheezing	161582	DNAAF4	ORPHA:244
HP:0030828	Wheezing	2622	GAS8	ORPHA:244
HP:0030828	Wheezing	23639	DNAAF11	ORPHA:244
HP:0030828	Wheezing	27019	DNAI1	ORPHA:244
HP:0030828	Wheezing	345895	RSPH4A	ORPHA:244
HP:0030828	Wheezing	54919	DNAAF5	ORPHA:244
HP:0030828	Wheezing	6103	RPGR	ORPHA:244
HP:0030828	Wheezing	388389	CCDC103	ORPHA:244
HP:0030828	Wheezing	93233	ODAD1	ORPHA:244
HP:0030828	Wheezing	55130	ODAD2	ORPHA:244
HP:0030828	Wheezing	1767	DNAH5	ORPHA:244
HP:0030828	Wheezing	83861	RSPH3	ORPHA:244
HP:0030828	Wheezing	345643	MCIDAS	ORPHA:244
HP:0030828	Wheezing	56683	CFAP298	ORPHA:244
HP:0030828	Wheezing	79925	SPEF2	ORPHA:244
HP:0030828	Wheezing	10309	CCNO	ORPHA:244
HP:0030828	Wheezing	115399	LRRC56	ORPHA:244
HP:0030828	Wheezing	139212	DNAAF6	ORPHA:244
HP:0030828	Wheezing	123872	DNAAF1	ORPHA:244
HP:0030828	Wheezing	85016	CFAP300	ORPHA:244
HP:0030828	Wheezing	339829	CCDC39	ORPHA:244
HP:0030828	Wheezing	339829	CCDC39	OMIM:613807
HP:0030828	Wheezing	8701	DNAH11	ORPHA:244
HP:0030828	Wheezing	1770	DNAH9	ORPHA:244
HP:0030828	Wheezing	246176	GAS2L2	ORPHA:244
HP:0030828	Wheezing	2214	FCGR3A	OMIM:615707
HP:0030828	Wheezing	10551	AGR2	OMIM:620233
HP:0030828	Wheezing	3119	HLA-DQB1	ORPHA:930
HP:0030828	Wheezing	9244	CRLF1	ORPHA:930
HP:0030828	Wheezing	3117	HLA-DQA1	ORPHA:930
HP:0030828	Wheezing	4842	NOS1	ORPHA:930
HP:0030828	Wheezing	7080	NKX2-1	OMIM:610978
HP:0030825	Absent foveal reflex	778	CACNA1F	OMIM:300476
HP:0030825	Absent foveal reflex	22926	ATF6	ORPHA:49382
HP:0030825	Absent foveal reflex	22926	ATF6	OMIM:616517
HP:0030825	Absent foveal reflex	5146	PDE6C	ORPHA:49382
HP:0030825	Absent foveal reflex	5146	PDE6C	OMIM:613093
HP:0030825	Absent foveal reflex	6103	RPGR	ORPHA:49382
HP:0030825	Absent foveal reflex	5149	PDE6H	ORPHA:49382
HP:0030825	Absent foveal reflex	2780	GNAT2	ORPHA:49382
HP:0030825	Absent foveal reflex	1261	CNGA3	ORPHA:49382
HP:0030825	Absent foveal reflex	1261	CNGA3	OMIM:216900
HP:0030825	Absent foveal reflex	54714	CNGB3	ORPHA:49382
HP:0030825	Absent foveal reflex	5961	PRPH2	ORPHA:52427
HP:0030825	Absent foveal reflex	5961	PRPH2	OMIM:169150
HP:0030825	Absent foveal reflex	6017	RLBP1	ORPHA:52427
HP:0030825	Absent foveal reflex	6010	RHO	ORPHA:52427
HP:0030825	Absent foveal reflex	5959	RDH5	ORPHA:52427
HP:0030825	Absent foveal reflex	83723	TLCD3B	OMIM:619531
HP:0030825	Absent foveal reflex	8481	OFD1	OMIM:300424
HP:0030825	Absent foveal reflex	79803	HPS6	OMIM:614075
HP:0030825	Absent foveal reflex	5148	PDE6G	OMIM:613582
HP:0030825	Absent foveal reflex	6121	RPE65	OMIM:204100
HP:0030825	Absent foveal reflex	5950	RBP4	OMIM:615147
HP:0030824	Mizuo phenomenon	6011	GRK1	OMIM:613411
HP:0030824	Mizuo phenomenon	6011	GRK1	ORPHA:75382
HP:0030824	Mizuo phenomenon	6295	SAG	ORPHA:75382
HP:0030824	Mizuo phenomenon	6295	SAG	OMIM:258100
HP:0030824	Mizuo phenomenon	6247	RS1	OMIM:312700
HP:0030823	Scleral thickening	3423	IDS	ORPHA:217085
HP:0030823	Scleral thickening	3423	IDS	ORPHA:217093
HP:0030823	Scleral thickening	646960	PRSS56	OMIM:613517
HP:0030823	Scleral thickening	83552	MFRP	OMIM:611040
HP:0030822	Hooded upper eyelid	57479	PRR12	OMIM:619539
HP:0030822	Hooded upper eyelid	9091	PIGQ	OMIM:618548
HP:0030822	Hooded upper eyelid	101929726	MYMX	OMIM:619941
HP:0030830	Crackles	1439	CSF2RB	ORPHA:264675
HP:0030830	Crackles	1438	CSF2RA	ORPHA:264675
HP:0030830	Crackles	653509	SFTPA1	OMIM:619611
HP:0030830	Crackles	653509	SFTPA1	ORPHA:2032
HP:0030830	Crackles	6340	SCNN1G	ORPHA:60033
HP:0030830	Crackles	1080	CFTR	ORPHA:60033
HP:0030830	Crackles	6337	SCNN1A	ORPHA:60033
HP:0030830	Crackles	6338	SCNN1B	ORPHA:60033
HP:0030830	Crackles	7015	TERT	OMIM:614742
HP:0030830	Crackles	7015	TERT	ORPHA:2032
HP:0030830	Crackles	6440	SFTPC	ORPHA:2032
HP:0030830	Crackles	729238	SFTPA2	ORPHA:2032
HP:0030830	Crackles	79991	STN1	ORPHA:2032
HP:0030830	Crackles	21	ABCA3	ORPHA:2032
HP:0030830	Crackles	1832	DSP	ORPHA:2032
HP:0030830	Crackles	727897	MUC5B	ORPHA:2032
HP:0030830	Crackles	10144	FAM13A	ORPHA:2032
HP:0030830	Crackles	23250	ATP11A	ORPHA:2032
HP:0030830	Crackles	91039	DPP9	ORPHA:2032
HP:0030830	Crackles	51750	RTEL1	ORPHA:2032
HP:0030830	Crackles	7012	TERC	ORPHA:2032
HP:0030830	Crackles	5073	PARN	ORPHA:2032
HP:0030830	Crackles	3123	HLA-DRB1	ORPHA:747
HP:0030830	Crackles	6261	RYR1	ORPHA:466650
HP:0030830	Crackles	10551	AGR2	OMIM:620233
HP:0030830	Crackles	7080	NKX2-1	OMIM:610978
HP:0004980	Metaphyseal rarefaction	3977	LIFR	OMIM:601559
HP:0004981	Prominent styloid process of ulna	633	BGN	OMIM:300106
HP:0004987	Mesomelic leg shortening	2316	FLNA	OMIM:300244
HP:0004987	Mesomelic leg shortening	9775	EIF4A3	OMIM:268305
HP:0004987	Mesomelic leg shortening	4750	NEK1	ORPHA:2751
HP:0004987	Mesomelic leg shortening	6913	TBX15	ORPHA:93333
HP:0004987	Mesomelic leg shortening	2737	GLI3	ORPHA:93322
HP:0010401	Symphalangism affecting the proximal phalanx of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0030839	Knee pain	10804	GJB6	ORPHA:477
HP:0030839	Knee pain	2706	GJB2	ORPHA:477
HP:0030839	Knee pain	6399	TRAPPC2	ORPHA:93284
HP:0030839	Knee pain	6578	SLCO2A1	OMIM:614441
HP:0030839	Knee pain	6578	SLCO2A1	OMIM:167100
HP:0030839	Knee pain	4010	LMX1B	ORPHA:2614
HP:0030839	Knee pain	1280	COL2A1	ORPHA:94068
HP:0030839	Knee pain	1280	COL2A1	ORPHA:166011
HP:0030839	Knee pain	4796	TONSL	ORPHA:93357
HP:0030839	Knee pain	4148	MATN3	ORPHA:93311
HP:0030839	Knee pain	1298	COL9A2	OMIM:600204
HP:0030839	Knee pain	1298	COL9A2	ORPHA:166002
HP:0030839	Knee pain	26580	BSCL2	ORPHA:100998
HP:0030839	Knee pain	1299	COL9A3	OMIM:600969
HP:0030839	Knee pain	1299	COL9A3	ORPHA:166002
HP:0030839	Knee pain	1297	COL9A1	OMIM:614135
HP:0030839	Knee pain	1297	COL9A1	ORPHA:166002
HP:0030839	Knee pain	1311	COMP	ORPHA:93308
HP:0030839	Knee pain	4322	MMP13	OMIM:250400
HP:0030839	Knee pain	567	B2M	ORPHA:314652
HP:0030839	Knee pain	3373	HYAL1	OMIM:601492
HP:0030838	Hip pain	1280	COL2A1	OMIM:608805
HP:0030838	Hip pain	1280	COL2A1	ORPHA:86820
HP:0030838	Hip pain	1280	COL2A1	ORPHA:94068
HP:0030838	Hip pain	4000	LMNA	ORPHA:740
HP:0030838	Hip pain	10269	ZMPSTE24	ORPHA:740
HP:0030838	Hip pain	59341	TRPV4	ORPHA:86820
HP:0030838	Hip pain	26580	BSCL2	ORPHA:100998
HP:0030838	Hip pain	23592	LEMD3	ORPHA:166119
HP:0030838	Hip pain	7415	VCP	OMIM:167320
HP:0030838	Hip pain	7415	VCP	ORPHA:52430
HP:0030838	Hip pain	3178	HNRNPA1	ORPHA:52430
HP:0030838	Hip pain	3181	HNRNPA2B1	ORPHA:52430
HP:0030838	Hip pain	4148	MATN3	OMIM:607078
HP:0030838	Hip pain	3373	HYAL1	OMIM:601492
HP:0030836	Wrist pain	9935	MAFB	OMIM:166300
HP:0030836	Wrist pain	567	B2M	ORPHA:314652
HP:0030834	Shoulder pain	3075	CFH	ORPHA:244242
HP:0030834	Shoulder pain	3426	CFI	ORPHA:244242
HP:0030834	Shoulder pain	4179	CD46	ORPHA:244242
HP:0030834	Shoulder pain	101101692	HELLPAR	ORPHA:244242
HP:0030834	Shoulder pain	4796	TONSL	ORPHA:93357
HP:0030834	Shoulder pain	567	B2M	ORPHA:314652
HP:0030834	Shoulder pain	5376	PMP22	ORPHA:101081
HP:0030833	Neck pain	5654	HTRA1	ORPHA:199354
HP:0030833	Neck pain	22943	DKK1	ORPHA:268882
HP:0030833	Neck pain	5921	RASA1	ORPHA:90307
HP:0030833	Neck pain	3145	HMBS	ORPHA:79276
HP:0030833	Neck pain	4796	TONSL	ORPHA:93357
HP:0030840	Ankle pain	23592	LEMD3	ORPHA:166119
HP:0030840	Ankle pain	1311	COMP	ORPHA:93308
HP:0030840	Ankle pain	1311	COMP	OMIM:132400
HP:0030840	Ankle pain	9935	MAFB	OMIM:166300
HP:0030840	Ankle pain	4148	MATN3	ORPHA:93311
HP:0030840	Ankle pain	3373	HYAL1	OMIM:601492
HP:0004991	Rhizomelic arm shortening	2879	GPX4	ORPHA:93317
HP:0004991	Rhizomelic arm shortening	2535	FZD2	OMIM:164745
HP:0004991	Rhizomelic arm shortening	54808	DYM	OMIM:223800
HP:0004991	Rhizomelic arm shortening	1280	COL2A1	OMIM:271700
HP:0004991	Rhizomelic arm shortening	1836	SLC26A2	ORPHA:56304
HP:0004991	Rhizomelic arm shortening	79848	CSPP1	ORPHA:397715
HP:0004991	Rhizomelic arm shortening	9786	KIAA0586	ORPHA:397715
HP:0004991	Rhizomelic arm shortening	114803	MYSM1	ORPHA:508542
HP:0004991	Rhizomelic arm shortening	2263	FGFR2	OMIM:101200
HP:0004993	Slender long bones with narrow diaphyses	3187	HNRNPH1	OMIM:620083
HP:0004993	Slender long bones with narrow diaphyses	23545	ATP6V0A2	ORPHA:2834
HP:0004993	Slender long bones with narrow diaphyses	126792	B3GALT6	ORPHA:536467
HP:0004993	Slender long bones with narrow diaphyses	9896	FIG4	ORPHA:3472
HP:0004993	Slender long bones with narrow diaphyses	55697	VAC14	ORPHA:3472
HP:0004997	Multicentric ossification of proximal humeral epiphyses	54808	DYM	OMIM:223800
HP:0030843	Cardiac amyloidosis	7276	TTR	ORPHA:85451
HP:0030843	Cardiac amyloidosis	2934	GSN	OMIM:105120
HP:0030843	Cardiac amyloidosis	567	B2M	ORPHA:314652
HP:0030842	Choking episodes	3064	HTT	ORPHA:399
HP:0030842	Choking episodes	6515	SLC2A3	ORPHA:399
HP:0030842	Choking episodes	60482	SLC5A7	ORPHA:98914
HP:0030842	Choking episodes	4649	MYO9A	ORPHA:98914
HP:0030842	Choking episodes	1305	COL13A1	ORPHA:98914
HP:0030842	Choking episodes	1103	CHAT	ORPHA:98914
HP:0030842	Choking episodes	6576	SLC25A1	ORPHA:98914
HP:0030842	Choking episodes	6843	VAMP1	ORPHA:98914
HP:0030842	Choking episodes	375790	AGRN	ORPHA:98914
HP:0030842	Choking episodes	127833	SYT2	ORPHA:98914
HP:0030842	Choking episodes	6572	SLC18A3	ORPHA:98914
HP:0030842	Choking episodes	6616	SNAP25	ORPHA:98914
HP:0030842	Choking episodes	374879	ZNF699	OMIM:619488
HP:0030842	Choking episodes	8398	PLA2G6	ORPHA:35069
HP:0030842	Choking episodes	773	CACNA1A	ORPHA:98758
HP:0030842	Choking episodes	1759	DNM1	OMIM:620352
HP:0030842	Choking episodes	6329	SCN4A	ORPHA:99734
HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	51776	MAP3K20	ORPHA:488232
HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0030848	Elevated jugular venous pressure	659	BMPR2	OMIM:265450
HP:0030848	Elevated jugular venous pressure	654	BMP6	ORPHA:465508
HP:0030848	Elevated jugular venous pressure	3077	HFE	ORPHA:465508
HP:0030848	Elevated jugular venous pressure	4625	MYH7	OMIM:255160
HP:0030847	Abnormal jugular venous pressure	659	BMPR2	OMIM:265450
HP:0030847	Abnormal jugular venous pressure	654	BMP6	ORPHA:465508
HP:0030847	Abnormal jugular venous pressure	3077	HFE	ORPHA:465508
HP:0030847	Abnormal jugular venous pressure	4625	MYH7	OMIM:255160
HP:0030846	Abnormality of venous physiology	2153	F5	OMIM:600880
HP:0030846	Abnormality of venous physiology	3717	JAK2	OMIM:600880
HP:0030846	Abnormality of venous physiology	3717	JAK2	ORPHA:729
HP:0030846	Abnormality of venous physiology	3717	JAK2	OMIM:263300
HP:0030846	Abnormality of venous physiology	4352	MPL	ORPHA:729
HP:0030846	Abnormality of venous physiology	54790	TET2	ORPHA:729
HP:0030846	Abnormality of venous physiology	26277	TINF2	OMIM:127550
HP:0030846	Abnormality of venous physiology	7012	TERC	OMIM:127550
HP:0030846	Abnormality of venous physiology	7015	TERT	OMIM:127550
HP:0030846	Abnormality of venous physiology	1604	CD55	OMIM:226300
HP:0030846	Abnormality of venous physiology	5277	PIGA	ORPHA:447
HP:0030846	Abnormality of venous physiology	659	BMPR2	OMIM:265450
HP:0030846	Abnormality of venous physiology	654	BMP6	ORPHA:465508
HP:0030846	Abnormality of venous physiology	3077	HFE	ORPHA:465508
HP:0030846	Abnormality of venous physiology	4625	MYH7	OMIM:255160
HP:0030844	Undetectable pattern electroretinogram	83723	TLCD3B	OMIM:619531
HP:0030844	Undetectable pattern electroretinogram	23093	TTLL5	OMIM:615860
HP:0030850	Abnormal pulse pressure	6261	RYR1	ORPHA:466650
HP:0030850	Abnormal pulse pressure	213	ALB	ORPHA:86816
HP:0030851	Low pulse pressure	213	ALB	ORPHA:86816
HP:0030853	Heterotaxy	7547	ZIC3	OMIM:306955
HP:0030853	Heterotaxy	10815	CPLX1	ORPHA:280
HP:0030853	Heterotaxy	54872	PIGG	ORPHA:280
HP:0030853	Heterotaxy	7469	NELFA	ORPHA:280
HP:0030853	Heterotaxy	1487	CTBP1	ORPHA:280
HP:0030853	Heterotaxy	3954	LETM1	ORPHA:280
HP:0030853	Heterotaxy	7468	NSD2	ORPHA:280
HP:0030853	Heterotaxy	90416	CCDC32	OMIM:619123
HP:0030853	Heterotaxy	168507	PKD1L1	OMIM:617205
HP:0030853	Heterotaxy	146845	CFAP52	OMIM:619607
HP:0030853	Heterotaxy	72	ACTG2	ORPHA:2604
HP:0030853	Heterotaxy	2302	FOXJ1	OMIM:618699
HP:0030853	Heterotaxy	220136	CFAP53	OMIM:614779
HP:0030853	Heterotaxy	55997	CFC1	OMIM:605376
HP:0030853	Heterotaxy	4838	NODAL	OMIM:270100
HP:0030853	Heterotaxy	51780	KDM3B	OMIM:618846
HP:0030853	Heterotaxy	118856	MMP21	OMIM:616749
HP:0030853	Heterotaxy	152110	NEK10	OMIM:618781
HP:0030853	Heterotaxy	339829	CCDC39	OMIM:613807
HP:0030853	Heterotaxy	54919	DNAAF5	OMIM:614874
HP:0030853	Heterotaxy	100128908	CIROP	OMIM:619702
HP:0030853	Heterotaxy	83538	ODAD4	OMIM:617092
HP:0030853	Heterotaxy	2657	GDF1	OMIM:208530
HP:0030853	Heterotaxy	4087	SMAD2	OMIM:619657
HP:0030853	Heterotaxy	2187	FANCB	OMIM:314390
HP:0030853	Heterotaxy	1770	DNAH9	OMIM:618300
HP:0000200	Short lingual frenulum	4000	LMNA	ORPHA:740
HP:0000200	Short lingual frenulum	10269	ZMPSTE24	ORPHA:740
HP:0000200	Short lingual frenulum	57539	WDR35	OMIM:614091
HP:0000200	Short lingual frenulum	6595	SMARCA2	OMIM:601358
HP:0000200	Short lingual frenulum	9851	KIAA0753	OMIM:619479
HP:0000200	Short lingual frenulum	8621	CDK13	OMIM:617360
HP:0000200	Short lingual frenulum	145173	B3GLCT	OMIM:261540
HP:0000200	Short lingual frenulum	158326	FREM1	ORPHA:217266
HP:0000200	Short lingual frenulum	158326	FREM1	OMIM:608980
HP:0000200	Short lingual frenulum	526	ATP6V1B2	ORPHA:79500
HP:0000200	Short lingual frenulum	57465	TBC1D24	ORPHA:79500
HP:0000200	Short lingual frenulum	7474	WNT5A	OMIM:180700
HP:0000200	Short lingual frenulum	1855	DVL1	OMIM:180700
HP:0000201	Pierre-Robin sequence	699	BUB1	OMIM:620183
HP:0000201	Pierre-Robin sequence	50801	KCNK4	OMIM:618381
HP:0000201	Pierre-Robin sequence	6628	SNRPB	OMIM:117650
HP:0000201	Pierre-Robin sequence	6885	MAP3K7	OMIM:617137
HP:0000201	Pierre-Robin sequence	23314	SATB2	ORPHA:251028
HP:0000201	Pierre-Robin sequence	23314	SATB2	OMIM:612313
HP:0000201	Pierre-Robin sequence	347734	SLC35B2	OMIM:620269
HP:0000201	Pierre-Robin sequence	1280	COL2A1	OMIM:108300
HP:0000201	Pierre-Robin sequence	1280	COL2A1	ORPHA:93296
HP:0000201	Pierre-Robin sequence	1280	COL2A1	ORPHA:485
HP:0000201	Pierre-Robin sequence	1280	COL2A1	OMIM:183900
HP:0000201	Pierre-Robin sequence	1302	COL11A2	OMIM:215150
HP:0000201	Pierre-Robin sequence	1302	COL11A2	OMIM:184840
HP:0000201	Pierre-Robin sequence	2887	GRB10	ORPHA:96182
HP:0000201	Pierre-Robin sequence	1301	COL11A1	OMIM:604841
HP:0000201	Pierre-Robin sequence	1301	COL11A1	OMIM:154780
HP:0000201	Pierre-Robin sequence	9993	DGCR2	OMIM:192430
HP:0000201	Pierre-Robin sequence	8220	ESS2	OMIM:192430
HP:0000201	Pierre-Robin sequence	8214	DGCR6	OMIM:192430
HP:0000201	Pierre-Robin sequence	54487	DGCR8	OMIM:192430
HP:0000201	Pierre-Robin sequence	6899	TBX1	OMIM:192430
HP:0000201	Pierre-Robin sequence	9382	COG1	OMIM:611209
HP:0000201	Pierre-Robin sequence	9382	COG1	ORPHA:263508
HP:0000201	Pierre-Robin sequence	8241	RBM10	ORPHA:2886
HP:0000201	Pierre-Robin sequence	389827	MYMK	ORPHA:1358
HP:0000201	Pierre-Robin sequence	389827	MYMK	OMIM:254940
HP:0000201	Pierre-Robin sequence	101929726	MYMX	ORPHA:1358
HP:0000201	Pierre-Robin sequence	139285	AMER1	OMIM:300373
HP:0000201	Pierre-Robin sequence	23483	TGDS	OMIM:616145
HP:0000201	Pierre-Robin sequence	1298	COL9A2	OMIM:614284
HP:0000201	Pierre-Robin sequence	84068	SLC10A7	OMIM:618363
HP:0000201	Pierre-Robin sequence	650	BMP2	OMIM:617877
HP:0000201	Pierre-Robin sequence	7528	YY1	OMIM:617557
HP:0000201	Pierre-Robin sequence	5236	PGM1	OMIM:614921
HP:0000201	Pierre-Robin sequence	222663	SCUBE3	OMIM:619184
HP:0000201	Pierre-Robin sequence	9775	EIF4A3	OMIM:268305
HP:0000201	Pierre-Robin sequence	5277	PIGA	OMIM:300868
HP:0000201	Pierre-Robin sequence	23327	NEDD4L	OMIM:617201
HP:0000201	Pierre-Robin sequence	56992	KIF15	OMIM:619981
HP:0000201	Pierre-Robin sequence	26057	ANKRD17	OMIM:619504
HP:0000201	Pierre-Robin sequence	2316	FLNA	ORPHA:90652
HP:0000202	Orofacial cleft	57724	EPG5	OMIM:242840
HP:0000202	Orofacial cleft	10735	STAG2	OMIM:301043
HP:0000202	Orofacial cleft	10735	STAG2	ORPHA:220386
HP:0000202	Orofacial cleft	10735	STAG2	ORPHA:93925
HP:0000202	Orofacial cleft	23007	PLCH1	OMIM:619895
HP:0000202	Orofacial cleft	23007	PLCH1	ORPHA:93925
HP:0000202	Orofacial cleft	81788	NUAK2	OMIM:619452
HP:0000202	Orofacial cleft	2260	FGFR1	ORPHA:220386
HP:0000202	Orofacial cleft	2260	FGFR1	OMIM:615465
HP:0000202	Orofacial cleft	2260	FGFR1	ORPHA:93924
HP:0000202	Orofacial cleft	28514	DLL1	ORPHA:220386
HP:0000202	Orofacial cleft	28514	DLL1	ORPHA:93926
HP:0000202	Orofacial cleft	28514	DLL1	ORPHA:93924
HP:0000202	Orofacial cleft	28514	DLL1	ORPHA:93925
HP:0000202	Orofacial cleft	2253	FGF8	ORPHA:220386
HP:0000202	Orofacial cleft	2253	FGF8	ORPHA:93926
HP:0000202	Orofacial cleft	2253	FGF8	ORPHA:93924
HP:0000202	Orofacial cleft	2253	FGF8	ORPHA:93925
HP:0000202	Orofacial cleft	8243	SMC1A	ORPHA:220386
HP:0000202	Orofacial cleft	6496	SIX3	ORPHA:220386
HP:0000202	Orofacial cleft	6496	SIX3	ORPHA:93926
HP:0000202	Orofacial cleft	6496	SIX3	ORPHA:93924
HP:0000202	Orofacial cleft	6496	SIX3	ORPHA:93925
HP:0000202	Orofacial cleft	7050	TGIF1	ORPHA:220386
HP:0000202	Orofacial cleft	7050	TGIF1	OMIM:142946
HP:0000202	Orofacial cleft	7050	TGIF1	ORPHA:93926
HP:0000202	Orofacial cleft	7050	TGIF1	ORPHA:93924
HP:0000202	Orofacial cleft	7050	TGIF1	ORPHA:93925
HP:0000202	Orofacial cleft	4838	NODAL	ORPHA:220386
HP:0000202	Orofacial cleft	4838	NODAL	ORPHA:93926
HP:0000202	Orofacial cleft	4838	NODAL	ORPHA:93924
HP:0000202	Orofacial cleft	4838	NODAL	ORPHA:93925
HP:0000202	Orofacial cleft	6469	SHH	ORPHA:220386
HP:0000202	Orofacial cleft	6469	SHH	ORPHA:93926
HP:0000202	Orofacial cleft	6469	SHH	ORPHA:93924
HP:0000202	Orofacial cleft	6469	SHH	ORPHA:93925
HP:0000202	Orofacial cleft	7546	ZIC2	ORPHA:220386
HP:0000202	Orofacial cleft	7546	ZIC2	ORPHA:93926
HP:0000202	Orofacial cleft	7546	ZIC2	ORPHA:93924
HP:0000202	Orofacial cleft	7546	ZIC2	ORPHA:93925
HP:0000202	Orofacial cleft	6491	STIL	ORPHA:220386
HP:0000202	Orofacial cleft	6491	STIL	ORPHA:93926
HP:0000202	Orofacial cleft	6491	STIL	ORPHA:93924
HP:0000202	Orofacial cleft	6491	STIL	ORPHA:93925
HP:0000202	Orofacial cleft	2619	GAS1	ORPHA:220386
HP:0000202	Orofacial cleft	2619	GAS1	ORPHA:93926
HP:0000202	Orofacial cleft	2619	GAS1	ORPHA:93924
HP:0000202	Orofacial cleft	2619	GAS1	ORPHA:93925
HP:0000202	Orofacial cleft	84976	DISP1	ORPHA:220386
HP:0000202	Orofacial cleft	84976	DISP1	ORPHA:93926
HP:0000202	Orofacial cleft	84976	DISP1	ORPHA:93924
HP:0000202	Orofacial cleft	84976	DISP1	ORPHA:93925
HP:0000202	Orofacial cleft	2736	GLI2	ORPHA:220386
HP:0000202	Orofacial cleft	2736	GLI2	ORPHA:93926
HP:0000202	Orofacial cleft	2736	GLI2	ORPHA:93924
HP:0000202	Orofacial cleft	2736	GLI2	ORPHA:93925
HP:0000202	Orofacial cleft	8928	FOXH1	ORPHA:220386
HP:0000202	Orofacial cleft	8928	FOXH1	ORPHA:93926
HP:0000202	Orofacial cleft	8928	FOXH1	ORPHA:93924
HP:0000202	Orofacial cleft	8928	FOXH1	ORPHA:93925
HP:0000202	Orofacial cleft	5727	PTCH1	ORPHA:220386
HP:0000202	Orofacial cleft	5727	PTCH1	OMIM:610828
HP:0000202	Orofacial cleft	5727	PTCH1	ORPHA:93926
HP:0000202	Orofacial cleft	5727	PTCH1	ORPHA:93924
HP:0000202	Orofacial cleft	5727	PTCH1	ORPHA:93925
HP:0000202	Orofacial cleft	50937	CDON	ORPHA:220386
HP:0000202	Orofacial cleft	50937	CDON	ORPHA:93926
HP:0000202	Orofacial cleft	50937	CDON	ORPHA:93924
HP:0000202	Orofacial cleft	50937	CDON	ORPHA:93925
HP:0000202	Orofacial cleft	23556	PIGN	ORPHA:2059
HP:0000202	Orofacial cleft	6608	SMO	OMIM:241800
HP:0000202	Orofacial cleft	57688	ZSWIM6	ORPHA:1827
HP:0000202	Orofacial cleft	8481	OFD1	ORPHA:2750
HP:0000202	Orofacial cleft	8481	OFD1	OMIM:311200
HP:0000202	Orofacial cleft	219844	HYLS1	OMIM:236680
HP:0000202	Orofacial cleft	26123	TCTN3	ORPHA:2753
HP:0000202	Orofacial cleft	2697	GJA1	ORPHA:2710
HP:0000202	Orofacial cleft	257	ALX3	OMIM:136760
HP:0000202	Orofacial cleft	51626	DYNC2LI1	OMIM:617088
HP:0000202	Orofacial cleft	83479	DDX59	ORPHA:2919
HP:0000202	Orofacial cleft	83479	DDX59	OMIM:174300
HP:0000202	Orofacial cleft	54101	RIPK4	ORPHA:1234
HP:0000202	Orofacial cleft	22858	CILK1	OMIM:612651
HP:0000202	Orofacial cleft	27152	INTU	OMIM:617926
HP:0000202	Orofacial cleft	85465	SELENOI	ORPHA:506353
HP:0000202	Orofacial cleft	85465	SELENOI	OMIM:618768
HP:0000202	Orofacial cleft	10617	STAMBP	OMIM:614261
HP:0000202	Orofacial cleft	29925	GMPPB	OMIM:615350
HP:0000202	Orofacial cleft	91452	ACBD5	OMIM:618863
HP:0000202	Orofacial cleft	2304	FOXE1	OMIM:241850
HP:0000202	Orofacial cleft	2304	FOXE1	ORPHA:1226
HP:0000202	Orofacial cleft	2138	EYA1	OMIM:113650
HP:0000202	Orofacial cleft	2138	EYA1	ORPHA:107
HP:0000202	Orofacial cleft	2138	EYA1	ORPHA:52429
HP:0000202	Orofacial cleft	6495	SIX1	OMIM:113650
HP:0000202	Orofacial cleft	6495	SIX1	ORPHA:107
HP:0000202	Orofacial cleft	6495	SIX1	ORPHA:52429
HP:0000202	Orofacial cleft	81857	MED25	OMIM:616449
HP:0000202	Orofacial cleft	81857	MED25	ORPHA:464738
HP:0000202	Orofacial cleft	5830	PEX5	OMIM:214110
HP:0000202	Orofacial cleft	55209	SETD5	ORPHA:404440
HP:0000202	Orofacial cleft	3190	HNRNPK	ORPHA:453504
HP:0000202	Orofacial cleft	3190	HNRNPK	OMIM:616580
HP:0000202	Orofacial cleft	3190	HNRNPK	ORPHA:352665
HP:0000202	Orofacial cleft	1836	SLC26A2	ORPHA:56304
HP:0000202	Orofacial cleft	1836	SLC26A2	ORPHA:628
HP:0000202	Orofacial cleft	1836	SLC26A2	OMIM:256050
HP:0000202	Orofacial cleft	1836	SLC26A2	ORPHA:93307
HP:0000202	Orofacial cleft	1836	SLC26A2	OMIM:222600
HP:0000202	Orofacial cleft	267010	RNU12	OMIM:603116
HP:0000202	Orofacial cleft	2073	ERCC5	OMIM:616570
HP:0000202	Orofacial cleft	4487	MSX1	ORPHA:199306
HP:0000202	Orofacial cleft	4487	MSX1	OMIM:608874
HP:0000202	Orofacial cleft	5818	NECTIN1	ORPHA:199306
HP:0000202	Orofacial cleft	5818	NECTIN1	OMIM:225060
HP:0000202	Orofacial cleft	1739	DLG1	ORPHA:199306
HP:0000202	Orofacial cleft	999	CDH1	ORPHA:199306
HP:0000202	Orofacial cleft	999	CDH1	OMIM:137215
HP:0000202	Orofacial cleft	5156	PDGFRA	ORPHA:199306
HP:0000202	Orofacial cleft	3664	IRF6	ORPHA:199306
HP:0000202	Orofacial cleft	3664	IRF6	ORPHA:888
HP:0000202	Orofacial cleft	3664	IRF6	OMIM:119500
HP:0000202	Orofacial cleft	3664	IRF6	OMIM:119300
HP:0000202	Orofacial cleft	3664	IRF6	OMIM:608864
HP:0000202	Orofacial cleft	3664	IRF6	ORPHA:1300
HP:0000202	Orofacial cleft	9411	ARHGAP29	ORPHA:199306
HP:0000202	Orofacial cleft	1748	DLX4	ORPHA:199306
HP:0000202	Orofacial cleft	1723	DHODH	OMIM:263750
HP:0000202	Orofacial cleft	1723	DHODH	ORPHA:246
HP:0000202	Orofacial cleft	2782	GNB1	ORPHA:488613
HP:0000202	Orofacial cleft	2782	GNB1	OMIM:616973
HP:0000202	Orofacial cleft	23322	RPGRIP1L	ORPHA:220497
HP:0000202	Orofacial cleft	23322	RPGRIP1L	ORPHA:564
HP:0000202	Orofacial cleft	23322	RPGRIP1L	OMIM:611561
HP:0000202	Orofacial cleft	4867	NPHP1	ORPHA:220497
HP:0000202	Orofacial cleft	65062	TMEM237	ORPHA:220497
HP:0000202	Orofacial cleft	65062	TMEM237	ORPHA:564
HP:0000202	Orofacial cleft	65062	TMEM237	OMIM:614424
HP:0000202	Orofacial cleft	84466	MEGF10	OMIM:614399
HP:0000202	Orofacial cleft	126792	B3GALT6	ORPHA:2725
HP:0000202	Orofacial cleft	126792	B3GALT6	OMIM:271640
HP:0000202	Orofacial cleft	126792	B3GALT6	ORPHA:93359
HP:0000202	Orofacial cleft	126792	B3GALT6	OMIM:615349
HP:0000202	Orofacial cleft	72	ACTG2	ORPHA:2604
HP:0000202	Orofacial cleft	54806	AHI1	ORPHA:220493
HP:0000202	Orofacial cleft	56623	INPP5E	ORPHA:220493
HP:0000202	Orofacial cleft	54903	MKS1	ORPHA:220493
HP:0000202	Orofacial cleft	54903	MKS1	OMIM:249000
HP:0000202	Orofacial cleft	54903	MKS1	ORPHA:564
HP:0000202	Orofacial cleft	95681	CEP41	ORPHA:220493
HP:0000202	Orofacial cleft	10084	PQBP1	ORPHA:93946
HP:0000202	Orofacial cleft	10084	PQBP1	OMIM:309500
HP:0000202	Orofacial cleft	6595	SMARCA2	ORPHA:2728
HP:0000202	Orofacial cleft	9723	SEMA3E	ORPHA:138
HP:0000202	Orofacial cleft	55650	PIGV	OMIM:239300
HP:0000202	Orofacial cleft	51684	SUFU	ORPHA:280200
HP:0000202	Orofacial cleft	10584	COLEC10	OMIM:248340
HP:0000202	Orofacial cleft	25885	POLR1A	OMIM:616462
HP:0000202	Orofacial cleft	7994	KAT6A	ORPHA:457193
HP:0000202	Orofacial cleft	7994	KAT6A	OMIM:616268
HP:0000202	Orofacial cleft	5191	PEX7	OMIM:215100
HP:0000202	Orofacial cleft	3339	HSPG2	ORPHA:1865
HP:0000202	Orofacial cleft	3339	HSPG2	ORPHA:800
HP:0000202	Orofacial cleft	7020	TFAP2A	OMIM:113620
HP:0000202	Orofacial cleft	1302	COL11A2	OMIM:184840
HP:0000202	Orofacial cleft	1302	COL11A2	ORPHA:166100
HP:0000202	Orofacial cleft	1302	COL11A2	ORPHA:2021
HP:0000202	Orofacial cleft	1302	COL11A2	OMIM:215150
HP:0000202	Orofacial cleft	1302	COL11A2	ORPHA:1427
HP:0000202	Orofacial cleft	9401	RECQL4	OMIM:218600
HP:0000202	Orofacial cleft	9401	RECQL4	OMIM:266280
HP:0000202	Orofacial cleft	9401	RECQL4	ORPHA:1225
HP:0000202	Orofacial cleft	9401	RECQL4	ORPHA:221016
HP:0000202	Orofacial cleft	10484	SEC23A	OMIM:607812
HP:0000202	Orofacial cleft	10815	CPLX1	ORPHA:280
HP:0000202	Orofacial cleft	10815	CPLX1	OMIM:194190
HP:0000202	Orofacial cleft	10815	CPLX1	OMIM:617976
HP:0000202	Orofacial cleft	54872	PIGG	ORPHA:280
HP:0000202	Orofacial cleft	7469	NELFA	ORPHA:280
HP:0000202	Orofacial cleft	1487	CTBP1	ORPHA:280
HP:0000202	Orofacial cleft	1487	CTBP1	OMIM:194190
HP:0000202	Orofacial cleft	3954	LETM1	ORPHA:280
HP:0000202	Orofacial cleft	3954	LETM1	OMIM:194190
HP:0000202	Orofacial cleft	7468	NSD2	ORPHA:280
HP:0000202	Orofacial cleft	7468	NSD2	OMIM:194190
HP:0000202	Orofacial cleft	1301	COL11A1	OMIM:228520
HP:0000202	Orofacial cleft	1301	COL11A1	ORPHA:90654
HP:0000202	Orofacial cleft	1301	COL11A1	ORPHA:440354
HP:0000202	Orofacial cleft	1301	COL11A1	OMIM:604841
HP:0000202	Orofacial cleft	1301	COL11A1	ORPHA:560
HP:0000202	Orofacial cleft	1301	COL11A1	OMIM:154780
HP:0000202	Orofacial cleft	1301	COL11A1	ORPHA:2021
HP:0000202	Orofacial cleft	1301	COL11A1	ORPHA:250984
HP:0000202	Orofacial cleft	23327	NEDD4L	OMIM:617201
HP:0000202	Orofacial cleft	80776	B9D2	OMIM:614175
HP:0000202	Orofacial cleft	80776	B9D2	ORPHA:564
HP:0000202	Orofacial cleft	56992	KIF15	OMIM:619981
HP:0000202	Orofacial cleft	7291	TWIST1	OMIM:101400
HP:0000202	Orofacial cleft	7291	TWIST1	ORPHA:794
HP:0000202	Orofacial cleft	2263	FGFR2	OMIM:101400
HP:0000202	Orofacial cleft	2263	FGFR2	OMIM:101200
HP:0000202	Orofacial cleft	2263	FGFR2	ORPHA:794
HP:0000202	Orofacial cleft	2263	FGFR2	ORPHA:87
HP:0000202	Orofacial cleft	2263	FGFR2	ORPHA:93260
HP:0000202	Orofacial cleft	2263	FGFR2	ORPHA:93259
HP:0000202	Orofacial cleft	2263	FGFR2	ORPHA:1555
HP:0000202	Orofacial cleft	10716	TBR1	ORPHA:1617
HP:0000202	Orofacial cleft	2316	FLNA	ORPHA:90650
HP:0000202	Orofacial cleft	2316	FLNA	ORPHA:90652
HP:0000202	Orofacial cleft	2316	FLNA	OMIM:304120
HP:0000202	Orofacial cleft	2316	FLNA	ORPHA:1826
HP:0000202	Orofacial cleft	2316	FLNA	OMIM:300244
HP:0000202	Orofacial cleft	2316	FLNA	OMIM:309350
HP:0000202	Orofacial cleft	2316	FLNA	OMIM:311300
HP:0000202	Orofacial cleft	2316	FLNA	OMIM:305620
HP:0000202	Orofacial cleft	2773	GNAI3	OMIM:602483
HP:0000202	Orofacial cleft	2773	GNAI3	ORPHA:137888
HP:0000202	Orofacial cleft	3476	IGBP1	ORPHA:52055
HP:0000202	Orofacial cleft	8241	RBM10	OMIM:311900
HP:0000202	Orofacial cleft	8241	RBM10	ORPHA:2886
HP:0000202	Orofacial cleft	57167	SALL4	ORPHA:233
HP:0000202	Orofacial cleft	9935	MAFB	ORPHA:233
HP:0000202	Orofacial cleft	1123	CHN1	ORPHA:233
HP:0000202	Orofacial cleft	1947	EFNB1	OMIM:304110
HP:0000202	Orofacial cleft	79659	DYNC2H1	OMIM:613091
HP:0000202	Orofacial cleft	11285	B4GALT7	OMIM:130070
HP:0000202	Orofacial cleft	1349	COX7B	OMIM:309801
HP:0000202	Orofacial cleft	3052	HCCS	OMIM:309801
HP:0000202	Orofacial cleft	54539	NDUFB11	OMIM:309801
HP:0000202	Orofacial cleft	23126	POGZ	OMIM:616364
HP:0000202	Orofacial cleft	126695	KDF1	OMIM:617337
HP:0000202	Orofacial cleft	1909	EDNRA	OMIM:616367
HP:0000202	Orofacial cleft	5979	RET	ORPHA:1848
HP:0000202	Orofacial cleft	8516	ITGA8	ORPHA:1848
HP:0000202	Orofacial cleft	26281	FGF20	ORPHA:1848
HP:0000202	Orofacial cleft	2674	GFRA1	ORPHA:1848
HP:0000202	Orofacial cleft	7484	WNT9B	ORPHA:1848
HP:0000202	Orofacial cleft	80000	GREB1L	ORPHA:1848
HP:0000202	Orofacial cleft	5925	RB1	OMIM:180200
HP:0000202	Orofacial cleft	147912	SIX5	ORPHA:107
HP:0000202	Orofacial cleft	54928	BPNT2	OMIM:614078
HP:0000202	Orofacial cleft	57492	ARID1B	ORPHA:251056
HP:0000202	Orofacial cleft	57492	ARID1B	OMIM:135900
HP:0000202	Orofacial cleft	1749	DLX5	OMIM:183600
HP:0000202	Orofacial cleft	11107	PRDM5	ORPHA:90354
HP:0000202	Orofacial cleft	84627	ZNF469	ORPHA:90354
HP:0000202	Orofacial cleft	2556	GABRA3	OMIM:301091
HP:0000202	Orofacial cleft	23314	SATB2	ORPHA:576283
HP:0000202	Orofacial cleft	23314	SATB2	ORPHA:251028
HP:0000202	Orofacial cleft	23314	SATB2	ORPHA:251019
HP:0000202	Orofacial cleft	23314	SATB2	OMIM:612313
HP:0000202	Orofacial cleft	4621	MYH3	OMIM:178110
HP:0000202	Orofacial cleft	4621	MYH3	OMIM:618469
HP:0000202	Orofacial cleft	4621	MYH3	ORPHA:2990
HP:0000202	Orofacial cleft	2706	GJB2	ORPHA:494
HP:0000202	Orofacial cleft	55120	FANCL	OMIM:614083
HP:0000202	Orofacial cleft	55120	FANCL	ORPHA:84
HP:0000202	Orofacial cleft	9319	TRIP13	OMIM:617598
HP:0000202	Orofacial cleft	9319	TRIP13	ORPHA:1052
HP:0000202	Orofacial cleft	23483	TGDS	OMIM:616145
HP:0000202	Orofacial cleft	23483	TGDS	ORPHA:1388
HP:0000202	Orofacial cleft	25836	NIPBL	OMIM:122470
HP:0000202	Orofacial cleft	25836	NIPBL	ORPHA:199
HP:0000202	Orofacial cleft	9496	TBX4	OMIM:147891
HP:0000202	Orofacial cleft	6885	MAP3K7	ORPHA:1826
HP:0000202	Orofacial cleft	6885	MAP3K7	OMIM:617137
HP:0000202	Orofacial cleft	2303	FOXC2	ORPHA:33001
HP:0000202	Orofacial cleft	2303	FOXC2	OMIM:153400
HP:0000202	Orofacial cleft	2317	FLNB	OMIM:272460
HP:0000202	Orofacial cleft	2317	FLNB	ORPHA:503
HP:0000202	Orofacial cleft	2317	FLNB	ORPHA:1190
HP:0000202	Orofacial cleft	2317	FLNB	OMIM:108721
HP:0000202	Orofacial cleft	2317	FLNB	OMIM:108720
HP:0000202	Orofacial cleft	2317	FLNB	OMIM:150250
HP:0000202	Orofacial cleft	10262	SF3B4	ORPHA:245
HP:0000202	Orofacial cleft	10262	SF3B4	OMIM:154400
HP:0000202	Orofacial cleft	57539	WDR35	OMIM:614091
HP:0000202	Orofacial cleft	57539	WDR35	OMIM:613610
HP:0000202	Orofacial cleft	25970	SH2B1	ORPHA:261197
HP:0000202	Orofacial cleft	1387	CREBBP	OMIM:618332
HP:0000202	Orofacial cleft	1387	CREBBP	OMIM:180849
HP:0000202	Orofacial cleft	9427	ECEL1	OMIM:615065
HP:0000202	Orofacial cleft	9533	POLR1C	OMIM:248390
HP:0000202	Orofacial cleft	9533	POLR1C	ORPHA:861
HP:0000202	Orofacial cleft	29968	PSAT1	OMIM:616038
HP:0000202	Orofacial cleft	4212	MEIS2	ORPHA:261190
HP:0000202	Orofacial cleft	4212	MEIS2	OMIM:600987
HP:0000202	Orofacial cleft	10801	SEPTIN9	ORPHA:2901
HP:0000202	Orofacial cleft	10801	SEPTIN9	OMIM:162100
HP:0000202	Orofacial cleft	7046	TGFBR1	OMIM:609192
HP:0000202	Orofacial cleft	6792	CDKL5	ORPHA:1934
HP:0000202	Orofacial cleft	3736	KCNA1	ORPHA:1934
HP:0000202	Orofacial cleft	9091	PIGQ	ORPHA:1934
HP:0000202	Orofacial cleft	2775	GNAO1	ORPHA:1934
HP:0000202	Orofacial cleft	81603	TRIM8	ORPHA:1934
HP:0000202	Orofacial cleft	2902	GRIN1	ORPHA:1934
HP:0000202	Orofacial cleft	79751	SLC25A22	ORPHA:1934
HP:0000202	Orofacial cleft	150094	SIK1	ORPHA:1934
HP:0000202	Orofacial cleft	8573	CASK	ORPHA:1934
HP:0000202	Orofacial cleft	23312	DMXL2	ORPHA:1934
HP:0000202	Orofacial cleft	2917	GRM7	ORPHA:1934
HP:0000202	Orofacial cleft	170302	ARX	ORPHA:1934
HP:0000202	Orofacial cleft	11284	PNKP	ORPHA:1934
HP:0000202	Orofacial cleft	6326	SCN2A	ORPHA:1934
HP:0000202	Orofacial cleft	51227	PIGP	ORPHA:1934
HP:0000202	Orofacial cleft	6324	SCN1B	ORPHA:1934
HP:0000202	Orofacial cleft	4761	NEUROD2	ORPHA:1934
HP:0000202	Orofacial cleft	1801	DPH1	ORPHA:459061
HP:0000202	Orofacial cleft	389827	MYMK	OMIM:254940
HP:0000202	Orofacial cleft	389827	MYMK	ORPHA:1358
HP:0000202	Orofacial cleft	10371	SEMA3A	ORPHA:478
HP:0000202	Orofacial cleft	81848	SPRY4	ORPHA:478
HP:0000202	Orofacial cleft	81848	SPRY4	ORPHA:432
HP:0000202	Orofacial cleft	128674	PROKR2	ORPHA:478
HP:0000202	Orofacial cleft	128674	PROKR2	ORPHA:432
HP:0000202	Orofacial cleft	128674	PROKR2	ORPHA:3157
HP:0000202	Orofacial cleft	128674	PROKR2	OMIM:244200
HP:0000202	Orofacial cleft	79625	NDNF	ORPHA:478
HP:0000202	Orofacial cleft	389549	FEZF1	ORPHA:478
HP:0000202	Orofacial cleft	1630	DCC	ORPHA:478
HP:0000202	Orofacial cleft	3730	ANOS1	ORPHA:478
HP:0000202	Orofacial cleft	54756	IL17RD	ORPHA:478
HP:0000202	Orofacial cleft	6663	SOX10	ORPHA:478
HP:0000202	Orofacial cleft	285025	CCDC141	ORPHA:478
HP:0000202	Orofacial cleft	60675	PROK2	ORPHA:478
HP:0000202	Orofacial cleft	60675	PROK2	ORPHA:432
HP:0000202	Orofacial cleft	1848	DUSP6	ORPHA:478
HP:0000202	Orofacial cleft	1848	DUSP6	ORPHA:432
HP:0000202	Orofacial cleft	6870	TACR3	ORPHA:478
HP:0000202	Orofacial cleft	6870	TACR3	ORPHA:432
HP:0000202	Orofacial cleft	55717	WDR11	ORPHA:478
HP:0000202	Orofacial cleft	55717	WDR11	ORPHA:432
HP:0000202	Orofacial cleft	9394	HS6ST1	ORPHA:478
HP:0000202	Orofacial cleft	9394	HS6ST1	ORPHA:432
HP:0000202	Orofacial cleft	9394	HS6ST1	OMIM:614880
HP:0000202	Orofacial cleft	8820	HESX1	ORPHA:478
HP:0000202	Orofacial cleft	8820	HESX1	ORPHA:3157
HP:0000202	Orofacial cleft	8822	FGF17	ORPHA:478
HP:0000202	Orofacial cleft	8822	FGF17	ORPHA:432
HP:0000202	Orofacial cleft	2261	FGFR3	ORPHA:794
HP:0000202	Orofacial cleft	4088	SMAD3	ORPHA:284984
HP:0000202	Orofacial cleft	4088	SMAD3	OMIM:613795
HP:0000202	Orofacial cleft	2796	GNRH1	ORPHA:432
HP:0000202	Orofacial cleft	2798	GNRHR	ORPHA:432
HP:0000202	Orofacial cleft	84634	KISS1R	ORPHA:432
HP:0000202	Orofacial cleft	6866	TAC3	ORPHA:432
HP:0000202	Orofacial cleft	3814	KISS1	ORPHA:432
HP:0000202	Orofacial cleft	23592	LEMD3	ORPHA:166119
HP:0000202	Orofacial cleft	5396	PRRX1	OMIM:202650
HP:0000202	Orofacial cleft	4703	NEB	OMIM:256030
HP:0000202	Orofacial cleft	23384	SPECC1L	OMIM:600251
HP:0000202	Orofacial cleft	55869	HDAC8	OMIM:300882
HP:0000202	Orofacial cleft	55869	HDAC8	ORPHA:199
HP:0000202	Orofacial cleft	23114	NFASC	OMIM:618356
HP:0000202	Orofacial cleft	26128	KIFBP	ORPHA:66629
HP:0000202	Orofacial cleft	9126	SMC3	OMIM:610759
HP:0000202	Orofacial cleft	9126	SMC3	ORPHA:199
HP:0000202	Orofacial cleft	79068	FTO	OMIM:612938
HP:0000202	Orofacial cleft	56975	FAM20C	OMIM:259775
HP:0000202	Orofacial cleft	5980	REV3L	ORPHA:570
HP:0000202	Orofacial cleft	23129	PLXND1	ORPHA:570
HP:0000202	Orofacial cleft	84068	SLC10A7	OMIM:618363
HP:0000202	Orofacial cleft	50619	DEF6	OMIM:619573
HP:0000202	Orofacial cleft	340665	CYP26C1	ORPHA:398189
HP:0000202	Orofacial cleft	50945	TBX22	OMIM:302905
HP:0000202	Orofacial cleft	50945	TBX22	ORPHA:921
HP:0000202	Orofacial cleft	50945	TBX22	OMIM:303400
HP:0000202	Orofacial cleft	1312	COMT	ORPHA:567
HP:0000202	Orofacial cleft	221037	JMJD1C	ORPHA:567
HP:0000202	Orofacial cleft	2812	GP1BB	ORPHA:567
HP:0000202	Orofacial cleft	6239	RREB1	ORPHA:567
HP:0000202	Orofacial cleft	7290	HIRA	ORPHA:567
HP:0000202	Orofacial cleft	9632	SEC24C	ORPHA:567
HP:0000202	Orofacial cleft	7353	UFD1	ORPHA:567
HP:0000202	Orofacial cleft	421	ARVCF	ORPHA:567
HP:0000202	Orofacial cleft	84314	TMEM107	ORPHA:564
HP:0000202	Orofacial cleft	79867	TCTN2	ORPHA:564
HP:0000202	Orofacial cleft	79867	TCTN2	OMIM:613885
HP:0000202	Orofacial cleft	79600	TCTN1	ORPHA:564
HP:0000202	Orofacial cleft	57096	RPGRIP1	ORPHA:564
HP:0000202	Orofacial cleft	79848	CSPP1	ORPHA:564
HP:0000202	Orofacial cleft	80184	CEP290	ORPHA:564
HP:0000202	Orofacial cleft	80184	CEP290	OMIM:611134
HP:0000202	Orofacial cleft	80184	CEP290	OMIM:610188
HP:0000202	Orofacial cleft	51259	TMEM216	ORPHA:564
HP:0000202	Orofacial cleft	51259	TMEM216	OMIM:603194
HP:0000202	Orofacial cleft	51259	TMEM216	ORPHA:2754
HP:0000202	Orofacial cleft	57545	CC2D2A	ORPHA:564
HP:0000202	Orofacial cleft	57545	CC2D2A	OMIM:612284
HP:0000202	Orofacial cleft	79583	TMEM231	ORPHA:564
HP:0000202	Orofacial cleft	91147	TMEM67	ORPHA:564
HP:0000202	Orofacial cleft	91147	TMEM67	OMIM:607361
HP:0000202	Orofacial cleft	79770	TXNDC15	ORPHA:564
HP:0000202	Orofacial cleft	27077	B9D1	ORPHA:564
HP:0000202	Orofacial cleft	372	ARCN1	OMIM:617164
HP:0000202	Orofacial cleft	1822	ATN1	OMIM:618494
HP:0000202	Orofacial cleft	7403	KDM6A	OMIM:300867
HP:0000202	Orofacial cleft	7403	KDM6A	OMIM:147920
HP:0000202	Orofacial cleft	7403	KDM6A	ORPHA:2322
HP:0000202	Orofacial cleft	8883	NAE1	OMIM:620210
HP:0000202	Orofacial cleft	9343	EFTUD2	OMIM:610536
HP:0000202	Orofacial cleft	9343	EFTUD2	ORPHA:79113
HP:0000202	Orofacial cleft	4927	NUP88	ORPHA:994
HP:0000202	Orofacial cleft	7846	TUBA1A	ORPHA:994
HP:0000202	Orofacial cleft	4654	MYOD1	ORPHA:994
HP:0000202	Orofacial cleft	4654	MYOD1	OMIM:618975
HP:0000202	Orofacial cleft	4593	MUSK	ORPHA:994
HP:0000202	Orofacial cleft	4593	MUSK	OMIM:208150
HP:0000202	Orofacial cleft	5913	RAPSN	ORPHA:994
HP:0000202	Orofacial cleft	5913	RAPSN	OMIM:618388
HP:0000202	Orofacial cleft	6572	SLC18A3	ORPHA:994
HP:0000202	Orofacial cleft	285489	DOK7	ORPHA:994
HP:0000202	Orofacial cleft	6611	SMS	ORPHA:3063
HP:0000202	Orofacial cleft	6611	SMS	OMIM:309583
HP:0000202	Orofacial cleft	340419	RSPO2	OMIM:618021
HP:0000202	Orofacial cleft	145173	B3GLCT	OMIM:261540
HP:0000202	Orofacial cleft	145173	B3GLCT	ORPHA:709
HP:0000202	Orofacial cleft	5530	PPP3CA	OMIM:618265
HP:0000202	Orofacial cleft	2033	EP300	OMIM:180849
HP:0000202	Orofacial cleft	57514	ARHGAP31	OMIM:100300
HP:0000202	Orofacial cleft	2254	FGF9	OMIM:612961
HP:0000202	Orofacial cleft	10413	YAP1	OMIM:120433
HP:0000202	Orofacial cleft	526	ATP6V1B2	ORPHA:79500
HP:0000202	Orofacial cleft	526	ATP6V1B2	ORPHA:3473
HP:0000202	Orofacial cleft	57465	TBC1D24	ORPHA:79500
HP:0000202	Orofacial cleft	57465	TBC1D24	OMIM:220500
HP:0000202	Orofacial cleft	10653	SPINT2	OMIM:270420
HP:0000202	Orofacial cleft	388015	RTL1	ORPHA:96184
HP:0000202	Orofacial cleft	8788	DLK1	ORPHA:96184
HP:0000202	Orofacial cleft	55384	MEG3	ORPHA:96184
HP:0000202	Orofacial cleft	84172	POLR1B	ORPHA:861
HP:0000202	Orofacial cleft	84172	POLR1B	OMIM:618939
HP:0000202	Orofacial cleft	51082	POLR1D	ORPHA:861
HP:0000202	Orofacial cleft	51082	POLR1D	OMIM:613717
HP:0000202	Orofacial cleft	51360	MBTPS2	OMIM:308205
HP:0000202	Orofacial cleft	51360	MBTPS2	ORPHA:85284
HP:0000202	Orofacial cleft	2571	GAD1	OMIM:619124
HP:0000202	Orofacial cleft	203068	TUBB	OMIM:156610
HP:0000202	Orofacial cleft	203068	TUBB	ORPHA:2505
HP:0000202	Orofacial cleft	8239	USP9X	OMIM:300968
HP:0000202	Orofacial cleft	8239	USP9X	ORPHA:480880
HP:0000202	Orofacial cleft	55640	FLVCR2	OMIM:225790
HP:0000202	Orofacial cleft	1654	DDX3X	OMIM:300958
HP:0000202	Orofacial cleft	64093	SMOC1	OMIM:206920
HP:0000202	Orofacial cleft	64093	SMOC1	ORPHA:1106
HP:0000202	Orofacial cleft	23169	SLC35D1	OMIM:269250
HP:0000202	Orofacial cleft	23169	SLC35D1	ORPHA:3144
HP:0000202	Orofacial cleft	22995	CEP152	OMIM:613823
HP:0000202	Orofacial cleft	4222	MEOX1	OMIM:214300
HP:0000202	Orofacial cleft	4222	MEOX1	ORPHA:2345
HP:0000202	Orofacial cleft	5077	PAX3	ORPHA:894
HP:0000202	Orofacial cleft	80267	EDEM3	OMIM:619493
HP:0000202	Orofacial cleft	1984	EIF5A	OMIM:619376
HP:0000202	Orofacial cleft	168667	BMPER	ORPHA:66637
HP:0000202	Orofacial cleft	168667	BMPER	OMIM:608022
HP:0000202	Orofacial cleft	5236	PGM1	OMIM:614921
HP:0000202	Orofacial cleft	284058	KANSL1	OMIM:610443
HP:0000202	Orofacial cleft	4683	NBN	ORPHA:647
HP:0000202	Orofacial cleft	4683	NBN	OMIM:251260
HP:0000202	Orofacial cleft	124454	EARS2	OMIM:614924
HP:0000202	Orofacial cleft	64131	XYLT1	ORPHA:370930
HP:0000202	Orofacial cleft	64131	XYLT1	OMIM:615777
HP:0000202	Orofacial cleft	3239	HOXD13	ORPHA:887
HP:0000202	Orofacial cleft	9897	WASHC5	ORPHA:7
HP:0000202	Orofacial cleft	9897	WASHC5	OMIM:220210
HP:0000202	Orofacial cleft	28952	CCDC22	ORPHA:7
HP:0000202	Orofacial cleft	6913	TBX15	OMIM:260660
HP:0000202	Orofacial cleft	6657	SOX2	ORPHA:3157
HP:0000202	Orofacial cleft	6658	SOX3	ORPHA:3157
HP:0000202	Orofacial cleft	9915	ARNT2	ORPHA:3157
HP:0000202	Orofacial cleft	5015	OTX2	ORPHA:3157
HP:0000202	Orofacial cleft	5015	OTX2	OMIM:610125
HP:0000202	Orofacial cleft	8085	KMT2D	OMIM:147920
HP:0000202	Orofacial cleft	8085	KMT2D	ORPHA:2322
HP:0000202	Orofacial cleft	10682	EBP	ORPHA:401973
HP:0000202	Orofacial cleft	6399	TRAPPC2	ORPHA:93284
HP:0000202	Orofacial cleft	1832	DSP	ORPHA:158687
HP:0000202	Orofacial cleft	3728	JUP	ORPHA:158687
HP:0000202	Orofacial cleft	347734	SLC35B2	OMIM:620269
HP:0000202	Orofacial cleft	3636	INPPL1	ORPHA:3144
HP:0000202	Orofacial cleft	10992	SF3B2	OMIM:164210
HP:0000202	Orofacial cleft	118987	PDZD8	OMIM:620021
HP:0000202	Orofacial cleft	80144	FRAS1	OMIM:219000
HP:0000202	Orofacial cleft	4784	NFIX	ORPHA:447980
HP:0000202	Orofacial cleft	80232	WDR26	ORPHA:513456
HP:0000202	Orofacial cleft	80232	WDR26	OMIM:617616
HP:0000202	Orofacial cleft	613	BCR	ORPHA:261330
HP:0000202	Orofacial cleft	1399	CRKL	ORPHA:261330
HP:0000202	Orofacial cleft	5594	MAPK1	ORPHA:261330
HP:0000202	Orofacial cleft	2314	FLII	ORPHA:819
HP:0000202	Orofacial cleft	23096	IQSEC2	ORPHA:819
HP:0000202	Orofacial cleft	10743	RAI1	ORPHA:819
HP:0000202	Orofacial cleft	10522	DEAF1	ORPHA:819
HP:0000202	Orofacial cleft	1717	DHCR7	ORPHA:818
HP:0000202	Orofacial cleft	1717	DHCR7	OMIM:270400
HP:0000202	Orofacial cleft	9382	COG1	OMIM:611209
HP:0000202	Orofacial cleft	1146	CHRNG	OMIM:265000
HP:0000202	Orofacial cleft	1146	CHRNG	OMIM:253290
HP:0000202	Orofacial cleft	1146	CHRNG	ORPHA:2990
HP:0000202	Orofacial cleft	92579	G6PC3	OMIM:612541
HP:0000202	Orofacial cleft	8289	ARID1A	OMIM:614607
HP:0000202	Orofacial cleft	672	BRCA1	ORPHA:84
HP:0000202	Orofacial cleft	10459	MAD2L2	ORPHA:84
HP:0000202	Orofacial cleft	7516	XRCC2	ORPHA:84
HP:0000202	Orofacial cleft	29089	UBE2T	ORPHA:84
HP:0000202	Orofacial cleft	675	BRCA2	ORPHA:84
HP:0000202	Orofacial cleft	2177	FANCD2	ORPHA:84
HP:0000202	Orofacial cleft	2175	FANCA	ORPHA:84
HP:0000202	Orofacial cleft	2187	FANCB	ORPHA:84
HP:0000202	Orofacial cleft	2176	FANCC	ORPHA:84
HP:0000202	Orofacial cleft	2178	FANCE	ORPHA:84
HP:0000202	Orofacial cleft	2188	FANCF	ORPHA:84
HP:0000202	Orofacial cleft	2189	FANCG	ORPHA:84
HP:0000202	Orofacial cleft	5888	RAD51	ORPHA:84
HP:0000202	Orofacial cleft	5889	RAD51C	ORPHA:84
HP:0000202	Orofacial cleft	55159	RFWD3	ORPHA:84
HP:0000202	Orofacial cleft	83990	BRIP1	ORPHA:84
HP:0000202	Orofacial cleft	57697	FANCM	ORPHA:84
HP:0000202	Orofacial cleft	79728	PALB2	ORPHA:84
HP:0000202	Orofacial cleft	84464	SLX4	ORPHA:84
HP:0000202	Orofacial cleft	2072	ERCC4	ORPHA:84
HP:0000202	Orofacial cleft	55215	FANCI	ORPHA:84
HP:0000202	Orofacial cleft	6598	SMARCB1	OMIM:614608
HP:0000202	Orofacial cleft	6597	SMARCA4	OMIM:614609
HP:0000202	Orofacial cleft	222663	SCUBE3	OMIM:619184
HP:0000202	Orofacial cleft	860	RUNX2	OMIM:119600
HP:0000202	Orofacial cleft	860	RUNX2	ORPHA:1452
HP:0000202	Orofacial cleft	9184	BUB3	ORPHA:1052
HP:0000202	Orofacial cleft	9702	CEP57	ORPHA:1052
HP:0000202	Orofacial cleft	701	BUB1B	ORPHA:1052
HP:0000202	Orofacial cleft	701	BUB1B	OMIM:257300
HP:0000202	Orofacial cleft	60	ACTB	OMIM:607371
HP:0000202	Orofacial cleft	1906	EDN1	ORPHA:137888
HP:0000202	Orofacial cleft	5332	PLCB4	ORPHA:137888
HP:0000202	Orofacial cleft	5332	PLCB4	OMIM:614669
HP:0000202	Orofacial cleft	3756	KCNH1	ORPHA:3473
HP:0000202	Orofacial cleft	3782	KCNN3	ORPHA:3473
HP:0000202	Orofacial cleft	53834	FGFRL1	OMIM:194190
HP:0000202	Orofacial cleft	4853	NOTCH2	ORPHA:955
HP:0000202	Orofacial cleft	26227	PHGDH	OMIM:256520
HP:0000202	Orofacial cleft	2615	LRRC32	OMIM:619074
HP:0000202	Orofacial cleft	392255	GDF6	OMIM:118100
HP:0000202	Orofacial cleft	392255	GDF6	ORPHA:2345
HP:0000202	Orofacial cleft	4519	MT-CYB	ORPHA:137675
HP:0000202	Orofacial cleft	5828	PEX2	OMIM:614866
HP:0000202	Orofacial cleft	84720	PIGO	OMIM:614749
HP:0000202	Orofacial cleft	54499	TMCO1	OMIM:213980
HP:0000202	Orofacial cleft	54499	TMCO1	ORPHA:1394
HP:0000202	Orofacial cleft	93210	PGAP3	OMIM:615716
HP:0000202	Orofacial cleft	157570	ESCO2	ORPHA:3103
HP:0000202	Orofacial cleft	157570	ESCO2	OMIM:268300
HP:0000202	Orofacial cleft	10907	TXNL4A	OMIM:608572
HP:0000202	Orofacial cleft	78989	COLEC11	OMIM:265050
HP:0000202	Orofacial cleft	4094	MAF	ORPHA:1272
HP:0000202	Orofacial cleft	3481	IGF2	ORPHA:397590
HP:0000202	Orofacial cleft	1028	CDKN1C	ORPHA:397590
HP:0000202	Orofacial cleft	5324	PLAG1	ORPHA:397590
HP:0000202	Orofacial cleft	8091	HMGA2	ORPHA:397590
HP:0000202	Orofacial cleft	2535	FZD2	OMIM:164745
HP:0000202	Orofacial cleft	10324	KLHL41	OMIM:615731
HP:0000202	Orofacial cleft	2625	GATA3	ORPHA:2237
HP:0000202	Orofacial cleft	7048	TGFBR2	OMIM:610168
HP:0000202	Orofacial cleft	11023	VAX1	OMIM:614402
HP:0000202	Orofacial cleft	8195	MKKS	ORPHA:2473
HP:0000202	Orofacial cleft	9939	RBM8A	ORPHA:3320
HP:0000202	Orofacial cleft	9939	RBM8A	OMIM:274000
HP:0000202	Orofacial cleft	22856	CHSY1	OMIM:605282
HP:0000202	Orofacial cleft	5781	PTPN11	OMIM:151100
HP:0000202	Orofacial cleft	5781	PTPN11	OMIM:163950
HP:0000202	Orofacial cleft	9775	EIF4A3	OMIM:268305
HP:0000202	Orofacial cleft	9573	GDF3	ORPHA:2345
HP:0000202	Orofacial cleft	1297	COL9A1	ORPHA:250984
HP:0000202	Orofacial cleft	1298	COL9A2	ORPHA:250984
HP:0000202	Orofacial cleft	1299	COL9A3	ORPHA:250984
HP:0000202	Orofacial cleft	84695	LOXL3	ORPHA:250984
HP:0000202	Orofacial cleft	2245	FGD1	ORPHA:915
HP:0000202	Orofacial cleft	2245	FGD1	OMIM:305400
HP:0000202	Orofacial cleft	10664	CTCF	OMIM:615502
HP:0000202	Orofacial cleft	10664	CTCF	ORPHA:363611
HP:0000202	Orofacial cleft	1144	CHRND	OMIM:253290
HP:0000202	Orofacial cleft	1134	CHRNA1	OMIM:253290
HP:0000202	Orofacial cleft	9894	TELO2	OMIM:616954
HP:0000202	Orofacial cleft	9894	TELO2	ORPHA:488642
HP:0000202	Orofacial cleft	196528	ARID2	OMIM:617808
HP:0000202	Orofacial cleft	55906	ZC4H2	OMIM:301041
HP:0000202	Orofacial cleft	29123	ANKRD11	ORPHA:2332
HP:0000202	Orofacial cleft	8092	ALX1	OMIM:613456
HP:0000202	Orofacial cleft	8092	ALX1	ORPHA:306542
HP:0000202	Orofacial cleft	4010	LMX1B	OMIM:161200
HP:0000202	Orofacial cleft	91179	SCARF2	OMIM:600920
HP:0000202	Orofacial cleft	4854	NOTCH3	OMIM:130720
HP:0000202	Orofacial cleft	55784	MCTP2	ORPHA:1596
HP:0000202	Orofacial cleft	5915	RARB	OMIM:615524
HP:0000202	Orofacial cleft	10982	MAPRE2	OMIM:616734
HP:0000202	Orofacial cleft	10982	MAPRE2	ORPHA:2505
HP:0000202	Orofacial cleft	2122	MECOM	OMIM:616738
HP:0000202	Orofacial cleft	101929726	MYMX	ORPHA:1358
HP:0000202	Orofacial cleft	6774	STAT3	ORPHA:2314
HP:0000202	Orofacial cleft	134701	RIPPLY2	ORPHA:2311
HP:0000202	Orofacial cleft	10683	DLL3	ORPHA:2311
HP:0000202	Orofacial cleft	3955	LFNG	ORPHA:2311
HP:0000202	Orofacial cleft	84667	HES7	ORPHA:2311
HP:0000202	Orofacial cleft	145873	MESP2	ORPHA:2311
HP:0000202	Orofacial cleft	27315	PGAP2	OMIM:614207
HP:0000202	Orofacial cleft	1063	CENPF	OMIM:243605
HP:0000202	Orofacial cleft	3759	KCNJ2	OMIM:170390
HP:0000202	Orofacial cleft	545	ATR	OMIM:210600
HP:0000202	Orofacial cleft	23395	LARS2	OMIM:615300
HP:0000202	Orofacial cleft	10046	MAMLD1	ORPHA:95706
HP:0000202	Orofacial cleft	367	AR	ORPHA:95706
HP:0000202	Orofacial cleft	6638	SNRPN	ORPHA:177907
HP:0000202	Orofacial cleft	29980	DONSON	OMIM:251230
HP:0000202	Orofacial cleft	23476	BRD4	ORPHA:199
HP:0000202	Orofacial cleft	64840	PORCN	OMIM:305600
HP:0000202	Orofacial cleft	23233	EXOC6B	ORPHA:93359
HP:0000202	Orofacial cleft	3199	HOXA2	OMIM:612290
HP:0000202	Orofacial cleft	6911	TBX6	ORPHA:1797
HP:0000202	Orofacial cleft	9786	KIAA0586	OMIM:616546
HP:0000202	Orofacial cleft	59341	TRPV4	ORPHA:2635
HP:0000202	Orofacial cleft	7476	WNT7A	ORPHA:2879
HP:0000202	Orofacial cleft	55788	LMBRD1	ORPHA:79284
HP:0000202	Orofacial cleft	5430	POLR2A	OMIM:618603
HP:0000202	Orofacial cleft	10225	CD96	ORPHA:1308
HP:0000202	Orofacial cleft	7473	WNT3	OMIM:273395
HP:0000202	Orofacial cleft	10210	TOPORS	ORPHA:2754
HP:0000202	Orofacial cleft	9851	KIAA0753	ORPHA:2754
HP:0000202	Orofacial cleft	5147	PDE6D	ORPHA:2754
HP:0000202	Orofacial cleft	317662	FAM149B1	ORPHA:2754
HP:0000202	Orofacial cleft	9130	FAM50A	OMIM:300261
HP:0000202	Orofacial cleft	9469	CHST3	OMIM:245600
HP:0000202	Orofacial cleft	26229	B3GAT3	OMIM:245600
HP:0000202	Orofacial cleft	9949	AMMECR1	OMIM:300990
HP:0000202	Orofacial cleft	9653	HS2ST1	OMIM:619194
HP:0000202	Orofacial cleft	3981	LIG4	ORPHA:235
HP:0000202	Orofacial cleft	54888	NSUN2	ORPHA:235
HP:0000202	Orofacial cleft	6477	SIAH1	OMIM:619314
HP:0000202	Orofacial cleft	63895	PIEZO2	OMIM:114300
HP:0000202	Orofacial cleft	63895	PIEZO2	ORPHA:2461
HP:0000202	Orofacial cleft	9791	PTDSS1	ORPHA:2658
HP:0000202	Orofacial cleft	6228	RPS23	OMIM:617412
HP:0000202	Orofacial cleft	5885	RAD21	OMIM:614701
HP:0000202	Orofacial cleft	673	BRAF	OMIM:115150
HP:0000202	Orofacial cleft	673	BRAF	ORPHA:1340
HP:0000202	Orofacial cleft	8452	CUL3	OMIM:619239
HP:0000202	Orofacial cleft	6418	SET	OMIM:618106
HP:0000202	Orofacial cleft	5575	PRKAR1B	OMIM:619680
HP:0000202	Orofacial cleft	54880	BCOR	OMIM:300166
HP:0000202	Orofacial cleft	54880	BCOR	ORPHA:2712
HP:0000202	Orofacial cleft	1718	DHCR24	ORPHA:35107
HP:0000202	Orofacial cleft	8443	GNPAT	OMIM:222765
HP:0000202	Orofacial cleft	23498	HAAO	OMIM:617660
HP:0000202	Orofacial cleft	29998	BICRA	OMIM:619325
HP:0000202	Orofacial cleft	6662	SOX9	OMIM:114290
HP:0000202	Orofacial cleft	9993	DGCR2	OMIM:192430
HP:0000202	Orofacial cleft	8220	ESS2	OMIM:192430
HP:0000202	Orofacial cleft	8214	DGCR6	OMIM:192430
HP:0000202	Orofacial cleft	54487	DGCR8	OMIM:192430
HP:0000202	Orofacial cleft	6899	TBX1	OMIM:192430
HP:0000202	Orofacial cleft	84892	POMGNT2	ORPHA:899
HP:0000202	Orofacial cleft	148789	B3GALNT2	ORPHA:899
HP:0000202	Orofacial cleft	79147	FKRP	ORPHA:899
HP:0000202	Orofacial cleft	29954	POMT2	ORPHA:899
HP:0000202	Orofacial cleft	9215	LARGE1	ORPHA:899
HP:0000202	Orofacial cleft	1282	COL4A1	ORPHA:899
HP:0000202	Orofacial cleft	729920	CRPPA	ORPHA:899
HP:0000202	Orofacial cleft	10329	RXYLT1	ORPHA:899
HP:0000202	Orofacial cleft	1605	DAG1	ORPHA:899
HP:0000202	Orofacial cleft	11041	B4GAT1	ORPHA:899
HP:0000202	Orofacial cleft	10585	POMT1	ORPHA:899
HP:0000202	Orofacial cleft	84197	POMK	ORPHA:899
HP:0000202	Orofacial cleft	2218	FKTN	ORPHA:899
HP:0000202	Orofacial cleft	55624	POMGNT1	ORPHA:899
HP:0000202	Orofacial cleft	3373	HYAL1	OMIM:601492
HP:0000202	Orofacial cleft	5528	PPP2R5D	ORPHA:457279
HP:0000202	Orofacial cleft	57479	PRR12	OMIM:619539
HP:0000202	Orofacial cleft	100151683	RNU4ATAC	ORPHA:2636
HP:0000202	Orofacial cleft	4000	LMNA	ORPHA:1662
HP:0000202	Orofacial cleft	10269	ZMPSTE24	ORPHA:1662
HP:0000202	Orofacial cleft	10269	ZMPSTE24	OMIM:275210
HP:0000202	Orofacial cleft	93986	FOXP2	ORPHA:209908
HP:0000202	Orofacial cleft	5604	MAP2K1	ORPHA:1340
HP:0000202	Orofacial cleft	5605	MAP2K2	ORPHA:1340
HP:0000202	Orofacial cleft	3845	KRAS	ORPHA:1340
HP:0000202	Orofacial cleft	23522	KAT6B	ORPHA:3047
HP:0000202	Orofacial cleft	81620	CDT1	ORPHA:2554
HP:0000202	Orofacial cleft	5000	ORC4	ORPHA:2554
HP:0000202	Orofacial cleft	23594	ORC6	ORPHA:2554
HP:0000202	Orofacial cleft	8318	CDC45	ORPHA:2554
HP:0000202	Orofacial cleft	990	CDC6	ORPHA:2554
HP:0000202	Orofacial cleft	990	CDC6	OMIM:613805
HP:0000202	Orofacial cleft	4998	ORC1	ORPHA:2554
HP:0000202	Orofacial cleft	51053	GMNN	ORPHA:2554
HP:0000202	Orofacial cleft	55553	SOX6	OMIM:618971
HP:0000202	Orofacial cleft	833	CARS1	OMIM:618891
HP:0000202	Orofacial cleft	1009	CDH11	ORPHA:1299
HP:0000202	Orofacial cleft	51729	WBP11	OMIM:619227
HP:0000202	Orofacial cleft	139285	AMER1	ORPHA:2780
HP:0000202	Orofacial cleft	9968	MED12	OMIM:301068
HP:0000202	Orofacial cleft	699	BUB1	OMIM:620183
HP:0000202	Orofacial cleft	4488	MSX2	OMIM:604757
HP:0000202	Orofacial cleft	8367	H4C5	OMIM:619950
HP:0000202	Orofacial cleft	6628	SNRPB	OMIM:117650
HP:0000202	Orofacial cleft	1859	DYRK1A	ORPHA:268261
HP:0000202	Orofacial cleft	6949	TCOF1	OMIM:154500
HP:0000202	Orofacial cleft	64359	NXN	OMIM:618529
HP:0000202	Orofacial cleft	1280	COL2A1	ORPHA:93316
HP:0000202	Orofacial cleft	79005	SCNM1	OMIM:620107
HP:0000202	Orofacial cleft	6135	RPL11	ORPHA:124
HP:0000202	Orofacial cleft	6138	RPL15	ORPHA:124
HP:0000202	Orofacial cleft	6229	RPS24	ORPHA:124
HP:0000202	Orofacial cleft	6125	RPL5	ORPHA:124
HP:0000202	Orofacial cleft	6204	RPS10	ORPHA:124
HP:0000202	Orofacial cleft	6224	RPS20	ORPHA:124
HP:0000202	Orofacial cleft	6165	RPL35A	ORPHA:124
HP:0000202	Orofacial cleft	2623	GATA1	ORPHA:124
HP:0000202	Orofacial cleft	6223	RPS19	ORPHA:124
HP:0000202	Orofacial cleft	6232	RPS27	ORPHA:124
HP:0000202	Orofacial cleft	6231	RPS26	ORPHA:124
HP:0000202	Orofacial cleft	11224	RPL35	ORPHA:124
HP:0000202	Orofacial cleft	6160	RPL31	ORPHA:124
HP:0000202	Orofacial cleft	6218	RPS17	ORPHA:124
HP:0000202	Orofacial cleft	6201	RPS7	ORPHA:124
HP:0000202	Orofacial cleft	6155	RPL27	ORPHA:124
HP:0000202	Orofacial cleft	6154	RPL26	ORPHA:124
HP:0000202	Orofacial cleft	6210	RPS15A	ORPHA:124
HP:0000202	Orofacial cleft	90121	TSR2	ORPHA:124
HP:0000202	Orofacial cleft	6141	RPL18	ORPHA:124
HP:0000202	Orofacial cleft	6235	RPS29	ORPHA:124
HP:0000202	Orofacial cleft	6234	RPS28	ORPHA:124
HP:0000202	Orofacial cleft	51816	ADA2	ORPHA:124
HP:0000202	Orofacial cleft	1855	DVL1	OMIM:616331
HP:0000202	Orofacial cleft	7043	TGFB3	OMIM:615582
HP:0000202	Orofacial cleft	8882	ZPR1	OMIM:619321
HP:0000202	Orofacial cleft	2783	GNB2	OMIM:619503
HP:0000202	Orofacial cleft	55033	FKBP14	OMIM:614557
HP:0000202	Orofacial cleft	6602	SMARCD1	OMIM:618779
HP:0000202	Orofacial cleft	60386	SLC25A19	ORPHA:99742
HP:0000202	Orofacial cleft	200894	ARL13B	ORPHA:475
HP:0000202	Orofacial cleft	9731	CEP104	ORPHA:475
HP:0000202	Orofacial cleft	219854	TMEM218	ORPHA:475
HP:0000202	Orofacial cleft	10464	PIBF1	ORPHA:475
HP:0000202	Orofacial cleft	80210	ARMC9	ORPHA:475
HP:0000202	Orofacial cleft	23116	TOGARAM1	ORPHA:475
HP:0000202	Orofacial cleft	25776	CBY1	ORPHA:475
HP:0000202	Orofacial cleft	403	ARL3	ORPHA:475
HP:0000202	Orofacial cleft	341640	FREM2	ORPHA:2052
HP:0000202	Orofacial cleft	23426	GRIP1	ORPHA:2052
HP:0000202	Orofacial cleft	8260	NAA10	OMIM:309800
HP:0000202	Orofacial cleft	8260	NAA10	ORPHA:568
HP:0000202	Orofacial cleft	71	ACTG1	OMIM:614583
HP:0000202	Orofacial cleft	26160	IFT172	OMIM:615630
HP:0000202	Orofacial cleft	10274	STAG1	ORPHA:502434
HP:0000202	Orofacial cleft	81839	VANGL1	ORPHA:3027
HP:0000202	Orofacial cleft	80199	FUZ	ORPHA:3027
HP:0000202	Orofacial cleft	8517	IKBKG	ORPHA:464
HP:0000202	Orofacial cleft	10436	EMG1	ORPHA:1270
HP:0000202	Orofacial cleft	2255	FGF10	ORPHA:2363
HP:0000202	Orofacial cleft	137814	NKX2-6	OMIM:217095
HP:0000202	Orofacial cleft	1482	NKX2-5	OMIM:217095
HP:0000202	Orofacial cleft	2627	GATA6	OMIM:217095
HP:0000202	Orofacial cleft	2767	GNA11	ORPHA:1556
HP:0000202	Orofacial cleft	151188	ARL6IP6	ORPHA:1556
HP:0000202	Orofacial cleft	4072	EPCAM	ORPHA:92050
HP:0000202	Orofacial cleft	105371045	PERCC1	ORPHA:92050
HP:0000202	Orofacial cleft	23511	NUP188	OMIM:618804
HP:0000202	Orofacial cleft	4920	ROR2	ORPHA:1507
HP:0000202	Orofacial cleft	51057	WDPCP	OMIM:217085
HP:0000202	Orofacial cleft	84295	PHF6	ORPHA:127
HP:0000202	Orofacial cleft	128178	EDARADD	ORPHA:99798
HP:0000202	Orofacial cleft	5083	PAX9	ORPHA:99798
HP:0000202	Orofacial cleft	80326	WNT10A	ORPHA:99798
HP:0000202	Orofacial cleft	1896	EDA	ORPHA:99798
HP:0000202	Orofacial cleft	8313	AXIN2	ORPHA:99798
HP:0000202	Orofacial cleft	4040	LRP6	ORPHA:99798
HP:0000202	Orofacial cleft	7039	TGFA	ORPHA:99798
HP:0000202	Orofacial cleft	7480	WNT10B	ORPHA:99798
HP:0000202	Orofacial cleft	8802	SUCLG1	ORPHA:17
HP:0000202	Orofacial cleft	55112	DYNC2I1	ORPHA:93271
HP:0000202	Orofacial cleft	57560	IFT80	ORPHA:93271
HP:0000202	Orofacial cleft	89891	DYNC2I2	ORPHA:93271
HP:0000202	Orofacial cleft	83696	TRAPPC9	OMIM:613192
HP:0000202	Orofacial cleft	50814	NSDHL	OMIM:308050
HP:0000202	Orofacial cleft	2121	EVC	OMIM:225500
HP:0000202	Orofacial cleft	132884	EVC2	OMIM:225500
HP:0000202	Orofacial cleft	55315	SLC29A3	ORPHA:168569
HP:0000202	Orofacial cleft	1147	CHUK	OMIM:619339
HP:0000202	Orofacial cleft	8405	SPOP	OMIM:618829
HP:0000202	Orofacial cleft	5626	PROP1	ORPHA:95494
HP:0000202	Orofacial cleft	89884	LHX4	ORPHA:95494
HP:0000202	Orofacial cleft	3170	FOXA2	ORPHA:95494
HP:0000202	Orofacial cleft	5449	POU1F1	ORPHA:95494
HP:0000202	Orofacial cleft	7474	WNT5A	ORPHA:3107
HP:0000202	Orofacial cleft	81031	SLC2A10	ORPHA:3342
HP:0000202	Orofacial cleft	5307	PITX1	OMIM:119800
HP:0000202	Orofacial cleft	529	ATP6V1E1	OMIM:617402
HP:0000202	Orofacial cleft	3930	LBR	OMIM:169400
HP:0000202	Orofacial cleft	2719	GPC3	OMIM:312870
HP:0000202	Orofacial cleft	2239	GPC4	OMIM:312870
HP:0000202	Orofacial cleft	22827	PUF60	ORPHA:508488
HP:0000202	Orofacial cleft	65250	CPLANE1	OMIM:277170
HP:0000202	Orofacial cleft	7314	UBB	ORPHA:99771
HP:0000202	Orofacial cleft	57822	GRHL3	ORPHA:99771
HP:0000202	Orofacial cleft	8626	TP63	ORPHA:69085
HP:0000202	Orofacial cleft	51305	KCNK9	OMIM:612292
HP:0000202	Orofacial cleft	4841	NONO	OMIM:300967
HP:0000202	Orofacial cleft	246329	STAC3	ORPHA:168572
HP:0000202	Orofacial cleft	4750	NEK1	ORPHA:2751
HP:0000202	Orofacial cleft	11128	POLR3A	ORPHA:3455
HP:0000202	Orofacial cleft	10526	IPO8	OMIM:619472
HP:0000202	Orofacial cleft	6651	SON	ORPHA:500150
HP:0000202	Orofacial cleft	79971	WLS	OMIM:619648
HP:0000202	Orofacial cleft	8364	H4C3	OMIM:619758
HP:0000202	Orofacial cleft	10524	KAT5	OMIM:619103
HP:0000202	Orofacial cleft	10220	GDF11	OMIM:619122
HP:0000202	Orofacial cleft	202018	TAPT1	OMIM:616897
HP:0000202	Orofacial cleft	374654	KIF7	ORPHA:2189
HP:0000202	Orofacial cleft	7341	SUMO1	OMIM:613705
HP:0000202	Orofacial cleft	55969	RAB5IF	OMIM:616994
HP:0000202	Orofacial cleft	55627	SMPD4	OMIM:618622
HP:0000202	Orofacial cleft	2737	GLI3	ORPHA:672
HP:0000202	Orofacial cleft	2294	FOXF1	OMIM:265380
HP:0000202	Orofacial cleft	6909	TBX2	OMIM:618223
HP:0000202	Orofacial cleft	23767	FLRT3	OMIM:615271
HP:0000202	Orofacial cleft	29895	MYL11	OMIM:619110
HP:0000202	Orofacial cleft	56006	SMG9	OMIM:616920
HP:0000202	Orofacial cleft	5648	MASP1	OMIM:257920
HP:0000202	Orofacial cleft	57122	NUP107	OMIM:618348
HP:0000202	Orofacial cleft	57122	NUP107	OMIM:616730
HP:0000202	Orofacial cleft	4089	SMAD4	OMIM:139210
HP:0000202	Orofacial cleft	1857	DVL3	OMIM:616894
HP:0000202	Orofacial cleft	55636	CHD7	OMIM:612370
HP:0000202	Orofacial cleft	90416	CCDC32	OMIM:619123
HP:0000202	Orofacial cleft	473	RERE	OMIM:616975
HP:0000202	Orofacial cleft	100506658	OCLN	OMIM:251290
HP:0000202	Orofacial cleft	26012	NSMF	OMIM:614838
HP:0000202	Orofacial cleft	7030	TFE3	OMIM:301066
HP:0000202	Orofacial cleft	57589	RIC1	OMIM:618761
HP:0000202	Orofacial cleft	60529	ALX4	ORPHA:60015
HP:0000202	Orofacial cleft	153241	CEP120	OMIM:616300
HP:0000202	Orofacial cleft	23247	KATNIP	OMIM:616784
HP:0000202	Orofacial cleft	80204	FBXO11	OMIM:618089
HP:0000202	Orofacial cleft	113189	CHST14	ORPHA:2953
HP:0000202	Orofacial cleft	29940	DSE	ORPHA:2953
HP:0000202	Orofacial cleft	9487	PIGL	OMIM:280000
HP:0000202	Orofacial cleft	54361	WNT4	OMIM:611812
HP:0000202	Orofacial cleft	23133	PHF8	OMIM:300263
HP:0000202	Orofacial cleft	171023	ASXL1	ORPHA:97297
HP:0000202	Orofacial cleft	23347	SMCHD1	OMIM:603457
HP:0000202	Orofacial cleft	652	BMP4	OMIM:600625
HP:0000202	Orofacial cleft	1500	CTNND1	OMIM:617681
HP:0000202	Orofacial cleft	8295	TRRAP	OMIM:618454
HP:0000202	Orofacial cleft	1968	EIF2S3	OMIM:300148
HP:0000202	Orofacial cleft	26173	INTS1	OMIM:618571
HP:0000202	Orofacial cleft	4281	MID1	ORPHA:2745
HP:0000202	Orofacial cleft	26057	ANKRD17	OMIM:619504
HP:0000202	Orofacial cleft	26005	C2CD3	OMIM:615948
HP:0000202	Orofacial cleft	55081	IFT57	OMIM:617927
HP:0000202	Orofacial cleft	3720	JARID2	OMIM:620098
HP:0000202	Orofacial cleft	4524	MTHFR	ORPHA:563609
HP:0000202	Orofacial cleft	57216	VANGL2	ORPHA:563609
HP:0000202	Orofacial cleft	9839	ZEB2	ORPHA:261537
HP:0000202	Orofacial cleft	9839	ZEB2	ORPHA:261552
HP:0000204	Cleft upper lip	57724	EPG5	OMIM:242840
HP:0000204	Cleft upper lip	10735	STAG2	OMIM:301043
HP:0000204	Cleft upper lip	10735	STAG2	ORPHA:220386
HP:0000204	Cleft upper lip	10735	STAG2	ORPHA:93925
HP:0000204	Cleft upper lip	23007	PLCH1	OMIM:619895
HP:0000204	Cleft upper lip	23007	PLCH1	ORPHA:93925
HP:0000204	Cleft upper lip	4750	NEK1	OMIM:263520
HP:0000204	Cleft upper lip	4750	NEK1	ORPHA:2751
HP:0000204	Cleft upper lip	81788	NUAK2	OMIM:619452
HP:0000204	Cleft upper lip	2260	FGFR1	ORPHA:220386
HP:0000204	Cleft upper lip	2260	FGFR1	OMIM:615465
HP:0000204	Cleft upper lip	2260	FGFR1	ORPHA:93924
HP:0000204	Cleft upper lip	28514	DLL1	ORPHA:220386
HP:0000204	Cleft upper lip	28514	DLL1	ORPHA:93926
HP:0000204	Cleft upper lip	28514	DLL1	ORPHA:93924
HP:0000204	Cleft upper lip	28514	DLL1	ORPHA:93925
HP:0000204	Cleft upper lip	2253	FGF8	ORPHA:220386
HP:0000204	Cleft upper lip	2253	FGF8	ORPHA:93926
HP:0000204	Cleft upper lip	2253	FGF8	ORPHA:93924
HP:0000204	Cleft upper lip	2253	FGF8	ORPHA:93925
HP:0000204	Cleft upper lip	8243	SMC1A	ORPHA:220386
HP:0000204	Cleft upper lip	6496	SIX3	ORPHA:220386
HP:0000204	Cleft upper lip	6496	SIX3	ORPHA:93926
HP:0000204	Cleft upper lip	6496	SIX3	ORPHA:93924
HP:0000204	Cleft upper lip	6496	SIX3	ORPHA:93925
HP:0000204	Cleft upper lip	7050	TGIF1	ORPHA:220386
HP:0000204	Cleft upper lip	7050	TGIF1	OMIM:142946
HP:0000204	Cleft upper lip	7050	TGIF1	ORPHA:93926
HP:0000204	Cleft upper lip	7050	TGIF1	ORPHA:93924
HP:0000204	Cleft upper lip	7050	TGIF1	ORPHA:93925
HP:0000204	Cleft upper lip	4838	NODAL	ORPHA:220386
HP:0000204	Cleft upper lip	4838	NODAL	ORPHA:93926
HP:0000204	Cleft upper lip	4838	NODAL	ORPHA:93924
HP:0000204	Cleft upper lip	4838	NODAL	ORPHA:93925
HP:0000204	Cleft upper lip	6469	SHH	ORPHA:220386
HP:0000204	Cleft upper lip	6469	SHH	ORPHA:93926
HP:0000204	Cleft upper lip	6469	SHH	ORPHA:93924
HP:0000204	Cleft upper lip	6469	SHH	ORPHA:93925
HP:0000204	Cleft upper lip	7546	ZIC2	ORPHA:220386
HP:0000204	Cleft upper lip	7546	ZIC2	ORPHA:93926
HP:0000204	Cleft upper lip	7546	ZIC2	ORPHA:93924
HP:0000204	Cleft upper lip	7546	ZIC2	ORPHA:93925
HP:0000204	Cleft upper lip	6491	STIL	ORPHA:220386
HP:0000204	Cleft upper lip	6491	STIL	ORPHA:93926
HP:0000204	Cleft upper lip	6491	STIL	ORPHA:93924
HP:0000204	Cleft upper lip	6491	STIL	ORPHA:93925
HP:0000204	Cleft upper lip	2619	GAS1	ORPHA:220386
HP:0000204	Cleft upper lip	2619	GAS1	ORPHA:93926
HP:0000204	Cleft upper lip	2619	GAS1	ORPHA:93924
HP:0000204	Cleft upper lip	2619	GAS1	ORPHA:93925
HP:0000204	Cleft upper lip	84976	DISP1	ORPHA:220386
HP:0000204	Cleft upper lip	84976	DISP1	ORPHA:93926
HP:0000204	Cleft upper lip	84976	DISP1	ORPHA:93924
HP:0000204	Cleft upper lip	84976	DISP1	ORPHA:93925
HP:0000204	Cleft upper lip	2736	GLI2	ORPHA:220386
HP:0000204	Cleft upper lip	2736	GLI2	ORPHA:93926
HP:0000204	Cleft upper lip	2736	GLI2	ORPHA:93924
HP:0000204	Cleft upper lip	2736	GLI2	ORPHA:93925
HP:0000204	Cleft upper lip	8928	FOXH1	ORPHA:220386
HP:0000204	Cleft upper lip	8928	FOXH1	ORPHA:93926
HP:0000204	Cleft upper lip	8928	FOXH1	ORPHA:93924
HP:0000204	Cleft upper lip	8928	FOXH1	ORPHA:93925
HP:0000204	Cleft upper lip	5727	PTCH1	ORPHA:220386
HP:0000204	Cleft upper lip	5727	PTCH1	OMIM:610828
HP:0000204	Cleft upper lip	5727	PTCH1	ORPHA:93926
HP:0000204	Cleft upper lip	5727	PTCH1	ORPHA:93924
HP:0000204	Cleft upper lip	5727	PTCH1	ORPHA:93925
HP:0000204	Cleft upper lip	50937	CDON	ORPHA:220386
HP:0000204	Cleft upper lip	50937	CDON	ORPHA:93926
HP:0000204	Cleft upper lip	50937	CDON	ORPHA:93924
HP:0000204	Cleft upper lip	50937	CDON	ORPHA:93925
HP:0000204	Cleft upper lip	23556	PIGN	ORPHA:2059
HP:0000204	Cleft upper lip	6608	SMO	OMIM:241800
HP:0000204	Cleft upper lip	57688	ZSWIM6	ORPHA:1827
HP:0000204	Cleft upper lip	8481	OFD1	ORPHA:2750
HP:0000204	Cleft upper lip	8481	OFD1	OMIM:311200
HP:0000204	Cleft upper lip	219844	HYLS1	OMIM:236680
HP:0000204	Cleft upper lip	26123	TCTN3	ORPHA:2753
HP:0000204	Cleft upper lip	2697	GJA1	ORPHA:2710
HP:0000204	Cleft upper lip	257	ALX3	OMIM:136760
HP:0000204	Cleft upper lip	51626	DYNC2LI1	OMIM:617088
HP:0000204	Cleft upper lip	83479	DDX59	ORPHA:2919
HP:0000204	Cleft upper lip	83479	DDX59	OMIM:174300
HP:0000204	Cleft upper lip	54101	RIPK4	ORPHA:1234
HP:0000204	Cleft upper lip	22858	CILK1	OMIM:612651
HP:0000204	Cleft upper lip	27152	INTU	OMIM:617926
HP:0000204	Cleft upper lip	2245	FGD1	OMIM:305400
HP:0000204	Cleft upper lip	2245	FGD1	ORPHA:915
HP:0000204	Cleft upper lip	341640	FREM2	ORPHA:2052
HP:0000204	Cleft upper lip	80144	FRAS1	ORPHA:2052
HP:0000204	Cleft upper lip	80144	FRAS1	OMIM:219000
HP:0000204	Cleft upper lip	23426	GRIP1	ORPHA:2052
HP:0000204	Cleft upper lip	128674	PROKR2	OMIM:244200
HP:0000204	Cleft upper lip	5648	MASP1	OMIM:257920
HP:0000204	Cleft upper lip	10992	SF3B2	OMIM:164210
HP:0000204	Cleft upper lip	23384	SPECC1L	OMIM:600251
HP:0000204	Cleft upper lip	4010	LMX1B	OMIM:161200
HP:0000204	Cleft upper lip	55112	DYNC2I1	ORPHA:93271
HP:0000204	Cleft upper lip	57560	IFT80	ORPHA:93271
HP:0000204	Cleft upper lip	57539	WDR35	ORPHA:93271
HP:0000204	Cleft upper lip	79659	DYNC2H1	ORPHA:93271
HP:0000204	Cleft upper lip	79659	DYNC2H1	OMIM:613091
HP:0000204	Cleft upper lip	89891	DYNC2I2	ORPHA:93271
HP:0000204	Cleft upper lip	3728	JUP	ORPHA:34217
HP:0000204	Cleft upper lip	23322	RPGRIP1L	OMIM:611561
HP:0000204	Cleft upper lip	2314	FLII	ORPHA:819
HP:0000204	Cleft upper lip	23096	IQSEC2	ORPHA:819
HP:0000204	Cleft upper lip	10743	RAI1	ORPHA:819
HP:0000204	Cleft upper lip	10522	DEAF1	ORPHA:819
HP:0000204	Cleft upper lip	55636	CHD7	ORPHA:138
HP:0000204	Cleft upper lip	55636	CHD7	OMIM:214800
HP:0000204	Cleft upper lip	9723	SEMA3E	ORPHA:138
HP:0000204	Cleft upper lip	29954	POMT2	OMIM:236670
HP:0000204	Cleft upper lip	29954	POMT2	OMIM:613150
HP:0000204	Cleft upper lip	9215	LARGE1	OMIM:236670
HP:0000204	Cleft upper lip	79147	FKRP	OMIM:236670
HP:0000204	Cleft upper lip	10585	POMT1	OMIM:236670
HP:0000204	Cleft upper lip	2218	FKTN	OMIM:236670
HP:0000204	Cleft upper lip	55650	PIGV	OMIM:239300
HP:0000204	Cleft upper lip	83696	TRAPPC9	OMIM:613192
HP:0000204	Cleft upper lip	10584	COLEC10	OMIM:248340
HP:0000204	Cleft upper lip	50814	NSDHL	OMIM:308050
HP:0000204	Cleft upper lip	340665	CYP26C1	ORPHA:398189
HP:0000204	Cleft upper lip	64093	SMOC1	ORPHA:1106
HP:0000204	Cleft upper lip	64093	SMOC1	OMIM:206920
HP:0000204	Cleft upper lip	10815	CPLX1	ORPHA:280
HP:0000204	Cleft upper lip	10815	CPLX1	OMIM:194190
HP:0000204	Cleft upper lip	54872	PIGG	ORPHA:280
HP:0000204	Cleft upper lip	7469	NELFA	ORPHA:280
HP:0000204	Cleft upper lip	1487	CTBP1	ORPHA:280
HP:0000204	Cleft upper lip	1487	CTBP1	OMIM:194190
HP:0000204	Cleft upper lip	3954	LETM1	ORPHA:280
HP:0000204	Cleft upper lip	3954	LETM1	OMIM:194190
HP:0000204	Cleft upper lip	7468	NSD2	ORPHA:280
HP:0000204	Cleft upper lip	7468	NSD2	OMIM:194190
HP:0000204	Cleft upper lip	4212	MEIS2	OMIM:600987
HP:0000204	Cleft upper lip	60	ACTB	OMIM:607371
HP:0000204	Cleft upper lip	60	ACTB	OMIM:243310
HP:0000204	Cleft upper lip	79867	TCTN2	OMIM:613885
HP:0000204	Cleft upper lip	53834	FGFRL1	OMIM:194190
HP:0000204	Cleft upper lip	2737	GLI3	OMIM:146510
HP:0000204	Cleft upper lip	26227	PHGDH	OMIM:256520
HP:0000204	Cleft upper lip	57822	GRHL3	OMIM:606713
HP:0000204	Cleft upper lip	57822	GRHL3	ORPHA:888
HP:0000204	Cleft upper lip	64840	PORCN	OMIM:305600
HP:0000204	Cleft upper lip	1947	EFNB1	OMIM:304110
HP:0000204	Cleft upper lip	8260	NAA10	OMIM:309800
HP:0000204	Cleft upper lip	54880	BCOR	OMIM:309800
HP:0000204	Cleft upper lip	57545	CC2D2A	OMIM:612284
HP:0000204	Cleft upper lip	6125	RPL5	OMIM:612561
HP:0000204	Cleft upper lip	57514	ARHGAP31	OMIM:100300
HP:0000204	Cleft upper lip	54499	TMCO1	OMIM:213980
HP:0000204	Cleft upper lip	54499	TMCO1	ORPHA:1394
HP:0000204	Cleft upper lip	157570	ESCO2	ORPHA:3103
HP:0000204	Cleft upper lip	157570	ESCO2	OMIM:268300
HP:0000204	Cleft upper lip	157570	ESCO2	OMIM:216100
HP:0000204	Cleft upper lip	10907	TXNL4A	OMIM:608572
HP:0000204	Cleft upper lip	84172	POLR1B	ORPHA:861
HP:0000204	Cleft upper lip	9533	POLR1C	ORPHA:861
HP:0000204	Cleft upper lip	51082	POLR1D	ORPHA:861
HP:0000204	Cleft upper lip	6949	TCOF1	ORPHA:861
HP:0000204	Cleft upper lip	78989	COLEC11	OMIM:265050
HP:0000204	Cleft upper lip	1654	DDX3X	OMIM:300958
HP:0000204	Cleft upper lip	4488	MSX2	OMIM:168500
HP:0000204	Cleft upper lip	4222	MEOX1	OMIM:214300
HP:0000204	Cleft upper lip	139285	AMER1	OMIM:300373
HP:0000204	Cleft upper lip	5077	PAX3	ORPHA:894
HP:0000204	Cleft upper lip	2121	EVC	OMIM:225500
HP:0000204	Cleft upper lip	132884	EVC2	OMIM:225500
HP:0000204	Cleft upper lip	23483	TGDS	OMIM:616145
HP:0000204	Cleft upper lip	23133	PHF8	ORPHA:85287
HP:0000204	Cleft upper lip	25836	NIPBL	OMIM:122470
HP:0000204	Cleft upper lip	284058	KANSL1	OMIM:610443
HP:0000204	Cleft upper lip	11023	VAX1	OMIM:614402
HP:0000204	Cleft upper lip	2303	FOXC2	ORPHA:33001
HP:0000204	Cleft upper lip	2303	FOXC2	OMIM:153400
HP:0000204	Cleft upper lip	7473	WNT3	OMIM:273395
HP:0000204	Cleft upper lip	6223	RPS19	OMIM:105650
HP:0000204	Cleft upper lip	171023	ASXL1	OMIM:605039
HP:0000204	Cleft upper lip	2317	FLNB	OMIM:150250
HP:0000204	Cleft upper lip	54903	MKS1	OMIM:249000
HP:0000204	Cleft upper lip	55315	SLC29A3	ORPHA:168569
HP:0000204	Cleft upper lip	10413	YAP1	ORPHA:1473
HP:0000204	Cleft upper lip	1147	CHUK	OMIM:619339
HP:0000204	Cleft upper lip	8405	SPOP	OMIM:618829
HP:0000204	Cleft upper lip	1500	CTNND1	ORPHA:1997
HP:0000204	Cleft upper lip	999	CDH1	ORPHA:1997
HP:0000204	Cleft upper lip	5626	PROP1	ORPHA:95494
HP:0000204	Cleft upper lip	89884	LHX4	ORPHA:95494
HP:0000204	Cleft upper lip	3170	FOXA2	ORPHA:95494
HP:0000204	Cleft upper lip	5449	POU1F1	ORPHA:95494
HP:0000204	Cleft upper lip	8820	HESX1	ORPHA:95494
HP:0000204	Cleft upper lip	5015	OTX2	ORPHA:95494
HP:0000204	Cleft upper lip	1857	DVL3	ORPHA:3107
HP:0000204	Cleft upper lip	7474	WNT5A	ORPHA:3107
HP:0000204	Cleft upper lip	1855	DVL1	ORPHA:3107
HP:0000204	Cleft upper lip	81031	SLC2A10	ORPHA:3342
HP:0000204	Cleft upper lip	56975	FAM20C	ORPHA:1832
HP:0000204	Cleft upper lip	2719	GPC3	OMIM:312870
HP:0000204	Cleft upper lip	2239	GPC4	OMIM:312870
HP:0000204	Cleft upper lip	65250	CPLANE1	OMIM:277170
HP:0000204	Cleft upper lip	153241	CEP120	OMIM:616300
HP:0000204	Cleft upper lip	79971	WLS	OMIM:619648
HP:0000204	Cleft upper lip	8364	H4C3	OMIM:619758
HP:0000204	Cleft upper lip	9968	MED12	OMIM:301068
HP:0000204	Cleft upper lip	4281	MID1	OMIM:300000
HP:0000204	Cleft upper lip	10524	KAT5	OMIM:619103
HP:0000204	Cleft upper lip	10220	GDF11	OMIM:619122
HP:0000204	Cleft upper lip	202018	TAPT1	OMIM:616897
HP:0000204	Cleft upper lip	374654	KIF7	ORPHA:2189
HP:0000204	Cleft upper lip	7341	SUMO1	OMIM:613705
HP:0000204	Cleft upper lip	4089	SMAD4	ORPHA:2588
HP:0000204	Cleft upper lip	5979	RET	ORPHA:1848
HP:0000204	Cleft upper lip	8516	ITGA8	ORPHA:1848
HP:0000204	Cleft upper lip	26281	FGF20	ORPHA:1848
HP:0000204	Cleft upper lip	2674	GFRA1	ORPHA:1848
HP:0000204	Cleft upper lip	7484	WNT9B	ORPHA:1848
HP:0000204	Cleft upper lip	80000	GREB1L	ORPHA:1848
HP:0000204	Cleft upper lip	4683	NBN	ORPHA:647
HP:0000204	Cleft upper lip	3239	HOXD13	ORPHA:887
HP:0000204	Cleft upper lip	1723	DHODH	ORPHA:246
HP:0000204	Cleft upper lip	10262	SF3B4	ORPHA:245
HP:0000204	Cleft upper lip	126792	B3GALT6	ORPHA:2725
HP:0000204	Cleft upper lip	7020	TFAP2A	ORPHA:1297
HP:0000204	Cleft upper lip	1748	DLX4	OMIM:616788
HP:0000204	Cleft upper lip	4487	MSX1	ORPHA:199302
HP:0000204	Cleft upper lip	5818	NECTIN1	ORPHA:199302
HP:0000204	Cleft upper lip	8626	TP63	ORPHA:199302
HP:0000204	Cleft upper lip	3664	IRF6	ORPHA:199302
HP:0000204	Cleft upper lip	2535	FZD2	OMIM:164745
HP:0000204	Cleft upper lip	55969	RAB5IF	OMIM:616994
HP:0000204	Cleft upper lip	55627	SMPD4	OMIM:618622
HP:0000204	Cleft upper lip	340419	RSPO2	OMIM:618021
HP:0000204	Cleft upper lip	145173	B3GLCT	OMIM:261540
HP:0000205	Pursed lips	4621	MYH3	OMIM:193700
HP:0000205	Pursed lips	3339	HSPG2	OMIM:255800
HP:0000205	Pursed lips	3339	HSPG2	ORPHA:800
HP:0000205	Pursed lips	3977	LIFR	OMIM:601559
HP:0000205	Pursed lips	259232	NALCN	OMIM:616266
HP:0000205	Pursed lips	29895	MYL11	OMIM:619110
HP:0000206	Glossitis	26191	PTPN22	ORPHA:397
HP:0000206	Glossitis	3106	HLA-B	ORPHA:397
HP:0000206	Glossitis	3123	HLA-DRB1	ORPHA:397
HP:0000206	Glossitis	8974	P4HA2	ORPHA:397
HP:0000206	Glossitis	8029	CUBN	ORPHA:35858
HP:0000206	Glossitis	81693	AMN	ORPHA:35858
HP:0000206	Glossitis	55630	SLC39A4	ORPHA:37
HP:0000206	Glossitis	340024	SLC6A19	ORPHA:2116
HP:0000206	Glossitis	340024	SLC6A19	OMIM:234500
HP:0000206	Glossitis	57393	CLTRN	ORPHA:2116
HP:0000206	Glossitis	55788	LMBRD1	OMIM:277380
HP:0000206	Glossitis	55788	LMBRD1	ORPHA:79284
HP:0000206	Glossitis	25974	MMACHC	ORPHA:79282
HP:0000206	Glossitis	113235	SLC46A1	ORPHA:90045
HP:0000207	Triangular mouth	4920	ROR2	OMIM:268310
HP:0000207	Triangular mouth	1146	CHRNG	OMIM:265000
HP:0000207	Triangular mouth	2068	ERCC2	OMIM:601675
HP:0000207	Triangular mouth	8314	BAP1	OMIM:619762
HP:0000207	Triangular mouth	374654	KIF7	OMIM:200990
HP:0000207	Triangular mouth	374654	KIF7	OMIM:607131
HP:0000207	Triangular mouth	374654	KIF7	ORPHA:166024
HP:0000207	Triangular mouth	1857	DVL3	OMIM:616894
HP:0000207	Triangular mouth	54892	NCAPG2	OMIM:618460
HP:0000207	Triangular mouth	5277	PIGA	OMIM:300868
HP:0000207	Triangular mouth	1855	DVL1	OMIM:616331
HP:0000207	Triangular mouth	1855	DVL1	OMIM:180700
HP:0000207	Triangular mouth	7021	TFAP2B	ORPHA:46627
HP:0000207	Triangular mouth	7021	TFAP2B	OMIM:169100
HP:0000207	Triangular mouth	64359	NXN	OMIM:618529
HP:0000207	Triangular mouth	5500	PPP1CB	OMIM:617506
HP:0000207	Triangular mouth	8292	COLQ	ORPHA:98915
HP:0000207	Triangular mouth	3913	LAMB2	ORPHA:98915
HP:0000207	Triangular mouth	54676	GTPBP2	OMIM:617988
HP:0000207	Triangular mouth	7474	WNT5A	OMIM:180700
HP:0000207	Triangular mouth	701	BUB1B	OMIM:257300
HP:0000207	Triangular mouth	56623	INPP5E	OMIM:213300
HP:0000207	Triangular mouth	6638	SNRPN	ORPHA:177907
HP:0000277	Abnormal mandible morphology	4626	MYH8	OMIM:158300
HP:0000277	Abnormal mandible morphology	4626	MYH8	OMIM:608837
HP:0000277	Abnormal mandible morphology	1280	COL2A1	OMIM:616583
HP:0000277	Abnormal mandible morphology	3977	LIFR	ORPHA:3206
HP:0000277	Abnormal mandible morphology	3747	KCNC2	OMIM:619913
HP:0000277	Abnormal mandible morphology	1909	EDNRA	OMIM:616367
HP:0000277	Abnormal mandible morphology	3339	HSPG2	ORPHA:800
HP:0000277	Abnormal mandible morphology	81570	CLPB	OMIM:616271
HP:0000277	Abnormal mandible morphology	112476	PRRT2	ORPHA:98810
HP:0000277	Abnormal mandible morphology	25953	PNKD	ORPHA:98810
HP:0000277	Abnormal mandible morphology	5295	PIK3R1	ORPHA:3163
HP:0000277	Abnormal mandible morphology	4853	NOTCH2	ORPHA:955
HP:0000277	Abnormal mandible morphology	3476	IGBP1	OMIM:300472
HP:0000277	Abnormal mandible morphology	3476	IGBP1	ORPHA:52055
HP:0000277	Abnormal mandible morphology	2294	FOXF1	OMIM:265380
HP:0000277	Abnormal mandible morphology	2077	ERF	OMIM:600775
HP:0000277	Abnormal mandible morphology	10262	SF3B4	OMIM:154400
HP:0000277	Abnormal mandible morphology	8367	H4C5	OMIM:619950
HP:0000277	Abnormal mandible morphology	10046	MAMLD1	ORPHA:456328
HP:0000277	Abnormal mandible morphology	4534	MTM1	ORPHA:456328
HP:0000277	Abnormal mandible morphology	8506	CNTNAP1	OMIM:618186
HP:0000277	Abnormal mandible morphology	8425	LTBP4	OMIM:613177
HP:0000277	Abnormal mandible morphology	10054	UBA2	OMIM:619959
HP:0000277	Abnormal mandible morphology	57539	WDR35	OMIM:613610
HP:0000277	Abnormal mandible morphology	81857	MED25	OMIM:616449
HP:0000277	Abnormal mandible morphology	81857	MED25	ORPHA:464738
HP:0000277	Abnormal mandible morphology	347734	SLC35B2	OMIM:620269
HP:0000277	Abnormal mandible morphology	2629	GBA1	OMIM:608013
HP:0000277	Abnormal mandible morphology	54968	TMEM70	ORPHA:1194
HP:0000277	Abnormal mandible morphology	80816	ASXL3	OMIM:615485
HP:0000277	Abnormal mandible morphology	6536	SLC6A9	OMIM:617301
HP:0000277	Abnormal mandible morphology	318	NUDT2	OMIM:619844
HP:0000277	Abnormal mandible morphology	129563	DIS3L2	ORPHA:2849
HP:0000277	Abnormal mandible morphology	9915	ARNT2	OMIM:615926
HP:0000277	Abnormal mandible morphology	29072	SETD2	OMIM:620157
HP:0000277	Abnormal mandible morphology	29072	SETD2	OMIM:620155
HP:0000277	Abnormal mandible morphology	26153	KIF26A	OMIM:620156
HP:0000277	Abnormal mandible morphology	25778	DSTYK	OMIM:270750
HP:0000277	Abnormal mandible morphology	3190	HNRNPK	OMIM:616580
HP:0000277	Abnormal mandible morphology	57492	ARID1B	OMIM:135900
HP:0000277	Abnormal mandible morphology	25885	POLR1A	OMIM:616462
HP:0000277	Abnormal mandible morphology	23184	MESD	OMIM:618644
HP:0000277	Abnormal mandible morphology	51319	RSRC1	OMIM:618402
HP:0000277	Abnormal mandible morphology	79184	BRCC3	ORPHA:280679
HP:0000277	Abnormal mandible morphology	7841	MOGS	OMIM:606056
HP:0000277	Abnormal mandible morphology	7841	MOGS	ORPHA:79330
HP:0000277	Abnormal mandible morphology	171023	ASXL1	ORPHA:97297
HP:0000277	Abnormal mandible morphology	171023	ASXL1	OMIM:605039
HP:0000277	Abnormal mandible morphology	652	BMP4	OMIM:607932
HP:0000277	Abnormal mandible morphology	8726	EED	OMIM:617561
HP:0000277	Abnormal mandible morphology	8726	EED	ORPHA:3447
HP:0000277	Abnormal mandible morphology	26053	AUTS2	ORPHA:352490
HP:0000277	Abnormal mandible morphology	84314	TMEM107	OMIM:617563
HP:0000277	Abnormal mandible morphology	56992	KIF15	OMIM:619981
HP:0000277	Abnormal mandible morphology	8550	MAPKAPK5	OMIM:619869
HP:0000277	Abnormal mandible morphology	1954	MEGF8	OMIM:614976
HP:0000277	Abnormal mandible morphology	89910	UBE3B	ORPHA:2707
HP:0000277	Abnormal mandible morphology	1906	EDN1	OMIM:615706
HP:0000277	Abnormal mandible morphology	4247	MGAT2	OMIM:212066
HP:0000277	Abnormal mandible morphology	54496	PRMT7	ORPHA:464288
HP:0000277	Abnormal mandible morphology	54496	PRMT7	OMIM:617157
HP:0000277	Abnormal mandible morphology	2200	FBN1	OMIM:616914
HP:0000277	Abnormal mandible morphology	2200	FBN1	ORPHA:2462
HP:0000277	Abnormal mandible morphology	2200	FBN1	OMIM:154700
HP:0000277	Abnormal mandible morphology	2200	FBN1	ORPHA:91387
HP:0000277	Abnormal mandible morphology	23265	EXOC7	OMIM:619072
HP:0000277	Abnormal mandible morphology	9653	HS2ST1	OMIM:619194
HP:0000277	Abnormal mandible morphology	51633	OTUD6B	OMIM:617452
HP:0000277	Abnormal mandible morphology	51633	OTUD6B	ORPHA:505237
HP:0000277	Abnormal mandible morphology	1857	DVL3	ORPHA:3107
HP:0000277	Abnormal mandible morphology	7474	WNT5A	ORPHA:3107
HP:0000277	Abnormal mandible morphology	7474	WNT5A	OMIM:180700
HP:0000277	Abnormal mandible morphology	1855	DVL1	ORPHA:3107
HP:0000277	Abnormal mandible morphology	1855	DVL1	OMIM:180700
HP:0000277	Abnormal mandible morphology	2535	FZD2	ORPHA:3107
HP:0000277	Abnormal mandible morphology	6125	RPL5	OMIM:612561
HP:0000277	Abnormal mandible morphology	3481	IGF2	OMIM:616489
HP:0000277	Abnormal mandible morphology	9508	ADAMTS3	ORPHA:2136
HP:0000277	Abnormal mandible morphology	147372	CCBE1	ORPHA:2136
HP:0000277	Abnormal mandible morphology	147372	CCBE1	OMIM:235510
HP:0000277	Abnormal mandible morphology	79633	FAT4	ORPHA:2136
HP:0000277	Abnormal mandible morphology	9841	ZBTB24	OMIM:614069
HP:0000277	Abnormal mandible morphology	79770	TXNDC15	OMIM:619879
HP:0000277	Abnormal mandible morphology	8364	H4C3	OMIM:619758
HP:0000277	Abnormal mandible morphology	10290	SPEG	OMIM:615959
HP:0000277	Abnormal mandible morphology	10290	SPEG	ORPHA:169186
HP:0000277	Abnormal mandible morphology	58	ACTA1	OMIM:161800
HP:0000277	Abnormal mandible morphology	2138	EYA1	ORPHA:107
HP:0000277	Abnormal mandible morphology	2138	EYA1	OMIM:602588
HP:0000277	Abnormal mandible morphology	147912	SIX5	ORPHA:107
HP:0000277	Abnormal mandible morphology	6495	SIX1	ORPHA:107
HP:0000277	Abnormal mandible morphology	79228	THOC6	ORPHA:363444
HP:0000277	Abnormal mandible morphology	5159	PDGFRB	OMIM:601812
HP:0000277	Abnormal mandible morphology	27086	FOXP1	ORPHA:391372
HP:0000277	Abnormal mandible morphology	27086	FOXP1	OMIM:613670
HP:0000277	Abnormal mandible morphology	53335	BCL11A	OMIM:617101
HP:0000277	Abnormal mandible morphology	4784	NFIX	OMIM:614753
HP:0000277	Abnormal mandible morphology	4784	NFIX	OMIM:602535
HP:0000277	Abnormal mandible morphology	4784	NFIX	ORPHA:561
HP:0000277	Abnormal mandible morphology	163175	LGI4	OMIM:617468
HP:0000277	Abnormal mandible morphology	7025	NR2F1	OMIM:615722
HP:0000277	Abnormal mandible morphology	9993	DGCR2	OMIM:192430
HP:0000277	Abnormal mandible morphology	8220	ESS2	OMIM:192430
HP:0000277	Abnormal mandible morphology	8214	DGCR6	OMIM:192430
HP:0000277	Abnormal mandible morphology	54487	DGCR8	OMIM:192430
HP:0000277	Abnormal mandible morphology	6899	TBX1	OMIM:192430
HP:0000277	Abnormal mandible morphology	5422	POLA1	ORPHA:163976
HP:0000277	Abnormal mandible morphology	5422	POLA1	OMIM:301030
HP:0000277	Abnormal mandible morphology	388015	RTL1	ORPHA:96334
HP:0000277	Abnormal mandible morphology	388015	RTL1	ORPHA:254528
HP:0000277	Abnormal mandible morphology	8788	DLK1	ORPHA:96334
HP:0000277	Abnormal mandible morphology	8788	DLK1	ORPHA:254528
HP:0000277	Abnormal mandible morphology	55384	MEG3	ORPHA:96334
HP:0000277	Abnormal mandible morphology	55384	MEG3	ORPHA:254528
HP:0000277	Abnormal mandible morphology	91949	COG7	ORPHA:79333
HP:0000277	Abnormal mandible morphology	91949	COG7	OMIM:608779
HP:0000277	Abnormal mandible morphology	10667	FARS2	ORPHA:466722
HP:0000277	Abnormal mandible morphology	11128	POLR3A	ORPHA:3455
HP:0000277	Abnormal mandible morphology	23065	EMC1	ORPHA:480898
HP:0000277	Abnormal mandible morphology	23065	EMC1	OMIM:616875
HP:0000277	Abnormal mandible morphology	2556	GABRA3	OMIM:301091
HP:0000277	Abnormal mandible morphology	3187	HNRNPH1	OMIM:620083
HP:0000277	Abnormal mandible morphology	3930	LBR	OMIM:215140
HP:0000277	Abnormal mandible morphology	4920	ROR2	OMIM:268310
HP:0000277	Abnormal mandible morphology	5373	PMM2	ORPHA:79318
HP:0000277	Abnormal mandible morphology	4677	NARS1	OMIM:619092
HP:0000277	Abnormal mandible morphology	57479	PRR12	OMIM:619539
HP:0000277	Abnormal mandible morphology	729920	CRPPA	OMIM:614643
HP:0000277	Abnormal mandible morphology	4088	SMAD3	OMIM:613795
HP:0000277	Abnormal mandible morphology	4088	SMAD3	ORPHA:284984
HP:0000277	Abnormal mandible morphology	4088	SMAD3	ORPHA:91387
HP:0000277	Abnormal mandible morphology	2146	EZH2	OMIM:277590
HP:0000277	Abnormal mandible morphology	2146	EZH2	ORPHA:3447
HP:0000277	Abnormal mandible morphology	55835	CENPJ	OMIM:613676
HP:0000277	Abnormal mandible morphology	7048	TGFBR2	OMIM:610168
HP:0000277	Abnormal mandible morphology	7048	TGFBR2	ORPHA:91387
HP:0000277	Abnormal mandible morphology	404672	GTF2H5	ORPHA:33364
HP:0000277	Abnormal mandible morphology	833	CARS1	ORPHA:33364
HP:0000277	Abnormal mandible morphology	2068	ERCC2	ORPHA:33364
HP:0000277	Abnormal mandible morphology	2068	ERCC2	OMIM:601675
HP:0000277	Abnormal mandible morphology	7737	RNF113A	ORPHA:33364
HP:0000277	Abnormal mandible morphology	136647	MPLKIP	ORPHA:33364
HP:0000277	Abnormal mandible morphology	136647	MPLKIP	OMIM:234050
HP:0000277	Abnormal mandible morphology	6897	TARS1	ORPHA:33364
HP:0000277	Abnormal mandible morphology	2071	ERCC3	ORPHA:33364
HP:0000277	Abnormal mandible morphology	2961	GTF2E2	ORPHA:33364
HP:0000277	Abnormal mandible morphology	79791	FBXO31	OMIM:615979
HP:0000277	Abnormal mandible morphology	1487	CTBP1	OMIM:617915
HP:0000277	Abnormal mandible morphology	23512	SUZ12	ORPHA:3447
HP:0000277	Abnormal mandible morphology	641	BLM	ORPHA:125
HP:0000277	Abnormal mandible morphology	10533	ATG7	OMIM:619422
HP:0000277	Abnormal mandible morphology	2033	EP300	OMIM:613684
HP:0000277	Abnormal mandible morphology	2033	EP300	OMIM:180849
HP:0000277	Abnormal mandible morphology	867	CBL	OMIM:613563
HP:0000277	Abnormal mandible morphology	7046	TGFBR1	OMIM:609192
HP:0000277	Abnormal mandible morphology	7046	TGFBR1	ORPHA:91387
HP:0000277	Abnormal mandible morphology	51013	EXOSC1	OMIM:619304
HP:0000277	Abnormal mandible morphology	1642	DDB1	OMIM:619426
HP:0000277	Abnormal mandible morphology	6497	SKI	ORPHA:2462
HP:0000277	Abnormal mandible morphology	63895	PIEZO2	ORPHA:2461
HP:0000277	Abnormal mandible morphology	196528	ARID2	OMIM:617808
HP:0000277	Abnormal mandible morphology	27152	INTU	OMIM:617926
HP:0000277	Abnormal mandible morphology	389827	MYMK	OMIM:254940
HP:0000277	Abnormal mandible morphology	3720	JARID2	OMIM:620098
HP:0000277	Abnormal mandible morphology	274	BIN1	ORPHA:169186
HP:0000277	Abnormal mandible morphology	6261	RYR1	ORPHA:169186
HP:0000277	Abnormal mandible morphology	7273	TTN	ORPHA:169186
HP:0000277	Abnormal mandible morphology	8243	SMC1A	OMIM:301044
HP:0000277	Abnormal mandible morphology	1281	COL3A1	OMIM:618343
HP:0000277	Abnormal mandible morphology	10466	COG5	ORPHA:263487
HP:0000277	Abnormal mandible morphology	23013	SPEN	OMIM:619312
HP:0000277	Abnormal mandible morphology	30000	TNPO2	OMIM:619556
HP:0000277	Abnormal mandible morphology	1859	DYRK1A	ORPHA:268261
HP:0000277	Abnormal mandible morphology	54517	PUS7	OMIM:618342
HP:0000277	Abnormal mandible morphology	11133	KPTN	OMIM:615637
HP:0000277	Abnormal mandible morphology	79650	USB1	OMIM:604173
HP:0000277	Abnormal mandible morphology	55593	OTUD5	OMIM:301056
HP:0000277	Abnormal mandible morphology	56945	MRPS22	OMIM:611719
HP:0000277	Abnormal mandible morphology	55315	SLC29A3	OMIM:602782
HP:0000277	Abnormal mandible morphology	55869	HDAC8	OMIM:300882
HP:0000277	Abnormal mandible morphology	6492	SIM1	ORPHA:171829
HP:0000277	Abnormal mandible morphology	23291	FBXW11	OMIM:618914
HP:0000277	Abnormal mandible morphology	9662	CEP135	OMIM:614673
HP:0000277	Abnormal mandible morphology	4953	ODC1	ORPHA:544488
HP:0000277	Abnormal mandible morphology	5915	RARB	OMIM:615524
HP:0000277	Abnormal mandible morphology	2187	FANCB	ORPHA:3412
HP:0000277	Abnormal mandible morphology	5932	RBBP8	OMIM:251255
HP:0000277	Abnormal mandible morphology	79068	FTO	OMIM:612938
HP:0000277	Abnormal mandible morphology	3417	IDH1	ORPHA:99646
HP:0000277	Abnormal mandible morphology	16	AARS1	OMIM:619691
HP:0000277	Abnormal mandible morphology	55777	MBD5	OMIM:156200
HP:0000277	Abnormal mandible morphology	3039	HBA1	ORPHA:98791
HP:0000277	Abnormal mandible morphology	3040	HBA2	ORPHA:98791
HP:0000277	Abnormal mandible morphology	56915	EXOSC5	OMIM:619576
HP:0000277	Abnormal mandible morphology	2530	FUT8	OMIM:618005
HP:0000277	Abnormal mandible morphology	55906	ZC4H2	OMIM:314580
HP:0000277	Abnormal mandible morphology	23511	NUP188	OMIM:618804
HP:0000277	Abnormal mandible morphology	4000	LMNA	OMIM:212112
HP:0000277	Abnormal mandible morphology	4000	LMNA	ORPHA:740
HP:0000277	Abnormal mandible morphology	9719	ADAMTSL2	ORPHA:1901
HP:0000277	Abnormal mandible morphology	91647	ATPAF2	OMIM:604273
HP:0000277	Abnormal mandible morphology	2304	FOXE1	ORPHA:1226
HP:0000277	Abnormal mandible morphology	444	ASPH	OMIM:601552
HP:0000277	Abnormal mandible morphology	10943	MSL3	OMIM:301032
HP:0000277	Abnormal mandible morphology	372	ARCN1	OMIM:617164
HP:0000277	Abnormal mandible morphology	9758	FRMPD4	OMIM:300983
HP:0000277	Abnormal mandible morphology	79796	ALG9	OMIM:263210
HP:0000277	Abnormal mandible morphology	57511	COG6	OMIM:614576
HP:0000277	Abnormal mandible morphology	51729	WBP11	OMIM:619227
HP:0000277	Abnormal mandible morphology	5116	PCNT	OMIM:210720
HP:0000277	Abnormal mandible morphology	5116	PCNT	ORPHA:2637
HP:0000277	Abnormal mandible morphology	54551	MAGEL2	OMIM:615547
HP:0000277	Abnormal mandible morphology	139285	AMER1	ORPHA:2780
HP:0000277	Abnormal mandible morphology	6638	SNRPN	ORPHA:177907
HP:0000277	Abnormal mandible morphology	9244	CRLF1	OMIM:272430
HP:0000277	Abnormal mandible morphology	26040	SETBP1	ORPHA:798
HP:0000277	Abnormal mandible morphology	760	CA2	ORPHA:2785
HP:0000277	Abnormal mandible morphology	60	ACTB	OMIM:243310
HP:0000277	Abnormal mandible morphology	60	ACTB	ORPHA:2995
HP:0000277	Abnormal mandible morphology	9321	TRIP11	ORPHA:166272
HP:0000277	Abnormal mandible morphology	8943	AP3D1	OMIM:617050
HP:0000277	Abnormal mandible morphology	50814	NSDHL	OMIM:300831
HP:0000277	Abnormal mandible morphology	71	ACTG1	OMIM:614583
HP:0000277	Abnormal mandible morphology	71	ACTG1	ORPHA:2995
HP:0000277	Abnormal mandible morphology	57061	HYMAI	ORPHA:96191
HP:0000277	Abnormal mandible morphology	5325	PLAGL1	ORPHA:96191
HP:0000277	Abnormal mandible morphology	10526	IPO8	OMIM:619472
HP:0000277	Abnormal mandible morphology	29895	MYL11	OMIM:619110
HP:0000277	Abnormal mandible morphology	348180	CTU2	OMIM:618142
HP:0000277	Abnormal mandible morphology	10847	SRCAP	OMIM:619595
HP:0000277	Abnormal mandible morphology	340419	RSPO2	OMIM:618022
HP:0000277	Abnormal mandible morphology	5530	PPP3CA	OMIM:618265
HP:0000277	Abnormal mandible morphology	1387	CREBBP	OMIM:180849
HP:0000277	Abnormal mandible morphology	29957	SLC25A24	OMIM:612289
HP:0000277	Abnormal mandible morphology	79005	SCNM1	OMIM:620107
HP:0000277	Abnormal mandible morphology	54796	BNC2	ORPHA:93110
HP:0000277	Abnormal mandible morphology	25914	RTTN	ORPHA:468631
HP:0000277	Abnormal mandible morphology	10269	ZMPSTE24	ORPHA:740
HP:0000277	Abnormal mandible morphology	84172	POLR1B	ORPHA:861
HP:0000277	Abnormal mandible morphology	9533	POLR1C	ORPHA:861
HP:0000277	Abnormal mandible morphology	51082	POLR1D	ORPHA:861
HP:0000277	Abnormal mandible morphology	51082	POLR1D	OMIM:613717
HP:0000277	Abnormal mandible morphology	6949	TCOF1	ORPHA:861
HP:0000277	Abnormal mandible morphology	4927	NUP88	OMIM:618393
HP:0000277	Abnormal mandible morphology	7204	TRIO	OMIM:617061
HP:0000277	Abnormal mandible morphology	1718	DHCR24	ORPHA:35107
HP:0000277	Abnormal mandible morphology	2222	FDFT1	OMIM:618156
HP:0000277	Abnormal mandible morphology	8567	MADD	OMIM:619004
HP:0000277	Abnormal mandible morphology	374879	ZNF699	OMIM:619488
HP:0000277	Abnormal mandible morphology	440138	ALG11	ORPHA:280071
HP:0000277	Abnormal mandible morphology	9326	ZNHIT3	OMIM:260565
HP:0000277	Abnormal mandible morphology	1806	DPYD	ORPHA:1675
HP:0000277	Abnormal mandible morphology	55704	CCDC88A	OMIM:617507
HP:0000277	Abnormal mandible morphology	64093	SMOC1	OMIM:206920
HP:0000277	Abnormal mandible morphology	55717	WDR11	OMIM:620237
HP:0000277	Abnormal mandible morphology	118924	FRA10AC1	OMIM:620113
HP:0000277	Abnormal mandible morphology	6519	SLC3A1	ORPHA:163690
HP:0000277	Abnormal mandible morphology	9581	PREPL	ORPHA:163690
HP:0000277	Abnormal mandible morphology	22995	CEP152	OMIM:613823
HP:0000277	Abnormal mandible morphology	2273	FHL1	OMIM:300280
HP:0000277	Abnormal mandible morphology	7169	TPM2	OMIM:108120
HP:0000277	Abnormal mandible morphology	55252	ASXL2	OMIM:617190
HP:0000277	Abnormal mandible morphology	80267	EDEM3	OMIM:619493
HP:0000277	Abnormal mandible morphology	342035	GLDN	OMIM:617194
HP:0000277	Abnormal mandible morphology	200205	IBA57	OMIM:615330
HP:0000277	Abnormal mandible morphology	2733	GLE1	OMIM:611890
HP:0000277	Abnormal mandible morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000277	Abnormal mandible morphology	5718	PSMD12	OMIM:617516
HP:0000277	Abnormal mandible morphology	3295	HSD17B4	OMIM:261515
HP:0000277	Abnormal mandible morphology	9757	KMT2B	OMIM:619934
HP:0000277	Abnormal mandible morphology	4683	NBN	ORPHA:647
HP:0000277	Abnormal mandible morphology	23522	KAT6B	ORPHA:3047
HP:0000277	Abnormal mandible morphology	26123	TCTN3	ORPHA:2753
HP:0000277	Abnormal mandible morphology	26123	TCTN3	OMIM:614815
HP:0000277	Abnormal mandible morphology	5286	PIK3C2A	ORPHA:557003
HP:0000277	Abnormal mandible morphology	6223	RPS19	OMIM:105650
HP:0000277	Abnormal mandible morphology	84842	HPDL	OMIM:619026
HP:0000277	Abnormal mandible morphology	8516	ITGA8	OMIM:191830
HP:0000277	Abnormal mandible morphology	375056	MIA3	OMIM:619269
HP:0000277	Abnormal mandible morphology	18	ABAT	OMIM:613163
HP:0000277	Abnormal mandible morphology	7043	TGFB3	OMIM:615582
HP:0000277	Abnormal mandible morphology	7043	TGFB3	ORPHA:91387
HP:0000277	Abnormal mandible morphology	22827	PUF60	OMIM:615583
HP:0000277	Abnormal mandible morphology	523	ATP6V1A	OMIM:617403
HP:0000277	Abnormal mandible morphology	25871	NEPRO	OMIM:618853
HP:0000277	Abnormal mandible morphology	219844	HYLS1	ORPHA:2189
HP:0000277	Abnormal mandible morphology	374654	KIF7	ORPHA:2189
HP:0000277	Abnormal mandible morphology	7042	TGFB2	OMIM:614816
HP:0000277	Abnormal mandible morphology	7042	TGFB2	ORPHA:91387
HP:0000277	Abnormal mandible morphology	3480	IGF1R	OMIM:270450
HP:0000277	Abnormal mandible morphology	4629	MYH11	ORPHA:91387
HP:0000277	Abnormal mandible morphology	4015	LOX	ORPHA:91387
HP:0000277	Abnormal mandible morphology	4087	SMAD2	ORPHA:91387
HP:0000277	Abnormal mandible morphology	4089	SMAD4	ORPHA:91387
HP:0000277	Abnormal mandible morphology	59	ACTA2	ORPHA:91387
HP:0000277	Abnormal mandible morphology	5592	PRKG1	ORPHA:91387
HP:0000277	Abnormal mandible morphology	2301	FOXE3	ORPHA:91387
HP:0000277	Abnormal mandible morphology	4144	MAT2A	ORPHA:91387
HP:0000277	Abnormal mandible morphology	23493	HEY2	ORPHA:91387
HP:0000277	Abnormal mandible morphology	8076	MFAP5	ORPHA:91387
HP:0000277	Abnormal mandible morphology	4638	MYLK	ORPHA:91387
HP:0000277	Abnormal mandible morphology	2006	ELN	ORPHA:91387
HP:0000277	Abnormal mandible morphology	1278	COL1A2	ORPHA:1899
HP:0000277	Abnormal mandible morphology	1277	COL1A1	ORPHA:1899
HP:0000277	Abnormal mandible morphology	50964	SOST	OMIM:269500
HP:0000277	Abnormal mandible morphology	50964	SOST	ORPHA:3416
HP:0000277	Abnormal mandible morphology	50964	SOST	OMIM:122860
HP:0000277	Abnormal mandible morphology	5573	PRKAR1A	ORPHA:950
HP:0000277	Abnormal mandible morphology	5573	PRKAR1A	OMIM:101800
HP:0000277	Abnormal mandible morphology	5573	PRKAR1A	ORPHA:280651
HP:0000277	Abnormal mandible morphology	5144	PDE4D	ORPHA:950
HP:0000277	Abnormal mandible morphology	5144	PDE4D	OMIM:614613
HP:0000277	Abnormal mandible morphology	5144	PDE4D	ORPHA:439822
HP:0000277	Abnormal mandible morphology	5144	PDE4D	ORPHA:280651
HP:0000277	Abnormal mandible morphology	199857	ALG14	OMIM:619031
HP:0000277	Abnormal mandible morphology	8450	CUL4B	OMIM:300354
HP:0000277	Abnormal mandible morphology	2673	GFPT1	OMIM:608931
HP:0000277	Abnormal mandible morphology	1145	CHRNE	OMIM:608931
HP:0000277	Abnormal mandible morphology	6535	SLC6A8	OMIM:300352
HP:0000277	Abnormal mandible morphology	324	APC	ORPHA:261584
HP:0000277	Abnormal mandible morphology	51256	TBC1D7	OMIM:248000
HP:0000277	Abnormal mandible morphology	340533	NEXMIF	OMIM:300912
HP:0000277	Abnormal mandible morphology	1183	CLCN4	OMIM:300114
HP:0000277	Abnormal mandible morphology	9853	RUSC2	OMIM:617773
HP:0000277	Abnormal mandible morphology	54507	ADAMTSL4	ORPHA:1885
HP:0000277	Abnormal mandible morphology	23135	KDM6B	OMIM:618505
HP:0000277	Abnormal mandible morphology	5894	RAF1	OMIM:611554
HP:0000277	Abnormal mandible morphology	5894	RAF1	OMIM:611553
HP:0000277	Abnormal mandible morphology	55627	SMPD4	OMIM:618622
HP:0000277	Abnormal mandible morphology	3703	STT3A	OMIM:619714
HP:0000277	Abnormal mandible morphology	1788	DNMT3A	ORPHA:404443
HP:0000277	Abnormal mandible morphology	1161	ERCC8	ORPHA:90321
HP:0000277	Abnormal mandible morphology	1161	ERCC8	ORPHA:90322
HP:0000277	Abnormal mandible morphology	1161	ERCC8	OMIM:216400
HP:0000277	Abnormal mandible morphology	2072	ERCC4	ORPHA:90321
HP:0000277	Abnormal mandible morphology	2074	ERCC6	ORPHA:90321
HP:0000277	Abnormal mandible morphology	2074	ERCC6	ORPHA:90322
HP:0000277	Abnormal mandible morphology	2074	ERCC6	OMIM:133540
HP:0000277	Abnormal mandible morphology	10084	PQBP1	ORPHA:93950
HP:0000277	Abnormal mandible morphology	10084	PQBP1	ORPHA:93945
HP:0000277	Abnormal mandible morphology	10084	PQBP1	OMIM:309500
HP:0000277	Abnormal mandible morphology	2067	ERCC1	ORPHA:90322
HP:0000277	Abnormal mandible morphology	9401	RECQL4	OMIM:268400
HP:0000277	Abnormal mandible morphology	6840	SVIL	OMIM:619040
HP:0000277	Abnormal mandible morphology	4125	MAN2B1	ORPHA:309282
HP:0000277	Abnormal mandible morphology	4125	MAN2B1	OMIM:248500
HP:0000277	Abnormal mandible morphology	4983	OPHN1	OMIM:300486
HP:0000277	Abnormal mandible morphology	4983	OPHN1	ORPHA:137831
HP:0000277	Abnormal mandible morphology	10479	SLC9A6	OMIM:300243
HP:0000277	Abnormal mandible morphology	10479	SLC9A6	ORPHA:85278
HP:0000277	Abnormal mandible morphology	9578	CDC42BPB	OMIM:619841
HP:0000277	Abnormal mandible morphology	3020	H3-3A	OMIM:619720
HP:0000277	Abnormal mandible morphology	3021	H3-3B	OMIM:619721
HP:0000277	Abnormal mandible morphology	5728	PTEN	ORPHA:2969
HP:0000277	Abnormal mandible morphology	2314	FLII	ORPHA:819
HP:0000277	Abnormal mandible morphology	23096	IQSEC2	ORPHA:819
HP:0000277	Abnormal mandible morphology	10743	RAI1	ORPHA:819
HP:0000277	Abnormal mandible morphology	10743	RAI1	OMIM:182290
HP:0000277	Abnormal mandible morphology	10522	DEAF1	ORPHA:819
HP:0000277	Abnormal mandible morphology	10522	DEAF1	OMIM:615828
HP:0000277	Abnormal mandible morphology	55650	PIGV	OMIM:239300
HP:0000277	Abnormal mandible morphology	55650	PIGV	ORPHA:247262
HP:0000277	Abnormal mandible morphology	284403	WDR62	OMIM:604317
HP:0000277	Abnormal mandible morphology	6197	RPS6KA3	OMIM:303600
HP:0000277	Abnormal mandible morphology	2263	FGFR2	ORPHA:87
HP:0000277	Abnormal mandible morphology	2263	FGFR2	ORPHA:168624
HP:0000277	Abnormal mandible morphology	2263	FGFR2	OMIM:101200
HP:0000277	Abnormal mandible morphology	2263	FGFR2	OMIM:123500
HP:0000277	Abnormal mandible morphology	2263	FGFR2	ORPHA:1540
HP:0000277	Abnormal mandible morphology	2263	FGFR2	OMIM:101600
HP:0000277	Abnormal mandible morphology	84992	PIGY	ORPHA:247262
HP:0000277	Abnormal mandible morphology	84720	PIGO	ORPHA:247262
HP:0000277	Abnormal mandible morphology	93210	PGAP3	ORPHA:247262
HP:0000277	Abnormal mandible morphology	284098	PIGW	ORPHA:247262
HP:0000277	Abnormal mandible morphology	27315	PGAP2	ORPHA:247262
HP:0000277	Abnormal mandible morphology	9487	PIGL	ORPHA:247262
HP:0000277	Abnormal mandible morphology	535	ATP6V0A1	OMIM:619971
HP:0000277	Abnormal mandible morphology	55154	MSTO1	OMIM:617675
HP:0000277	Abnormal mandible morphology	8913	CACNA1G	OMIM:618087
HP:0000277	Abnormal mandible morphology	3899	AFF3	OMIM:619297
HP:0000277	Abnormal mandible morphology	7040	TGFB1	OMIM:131300
HP:0000277	Abnormal mandible morphology	56172	ANKH	OMIM:123000
HP:0000277	Abnormal mandible morphology	2697	GJA1	ORPHA:2710
HP:0000277	Abnormal mandible morphology	2697	GJA1	OMIM:218400
HP:0000277	Abnormal mandible morphology	10555	AGPAT2	OMIM:608594
HP:0000277	Abnormal mandible morphology	10555	AGPAT2	ORPHA:528
HP:0000277	Abnormal mandible morphology	9839	ZEB2	ORPHA:261552
HP:0000277	Abnormal mandible morphology	9839	ZEB2	ORPHA:261537
HP:0000277	Abnormal mandible morphology	1193	CLIC2	ORPHA:324410
HP:0000277	Abnormal mandible morphology	2720	GLB1	OMIM:253010
HP:0000277	Abnormal mandible morphology	3340	NDST1	OMIM:616116
HP:0000277	Abnormal mandible morphology	79813	EHMT1	OMIM:610253
HP:0000277	Abnormal mandible morphology	1009	CDH11	ORPHA:1299
HP:0000277	Abnormal mandible morphology	1009	CDH11	OMIM:211380
HP:0000277	Abnormal mandible morphology	93627	TBCK	ORPHA:488632
HP:0000277	Abnormal mandible morphology	2783	GNB2	OMIM:619503
HP:0000277	Abnormal mandible morphology	55623	THUMPD1	OMIM:619989
HP:0000277	Abnormal mandible morphology	79158	GNPTAB	OMIM:252600
HP:0000277	Abnormal mandible morphology	175	AGA	ORPHA:93
HP:0000277	Abnormal mandible morphology	3425	IDUA	OMIM:607016
HP:0000277	Abnormal mandible morphology	54345	SOX18	OMIM:137940
HP:0000277	Abnormal mandible morphology	65109	UPF3B	OMIM:300676
HP:0000277	Abnormal mandible morphology	1182	CLCN3	OMIM:619512
HP:0000277	Abnormal mandible morphology	388662	SLC6A17	ORPHA:457212
HP:0000277	Abnormal mandible morphology	388662	SLC6A17	OMIM:616269
HP:0000277	Abnormal mandible morphology	3590	IL11RA	OMIM:614188
HP:0000277	Abnormal mandible morphology	23126	POGZ	OMIM:616364
HP:0000277	Abnormal mandible morphology	3572	IL6ST	OMIM:619750
HP:0000277	Abnormal mandible morphology	55699	IARS2	OMIM:616007
HP:0000277	Abnormal mandible morphology	2332	FMR1	ORPHA:908
HP:0000277	Abnormal mandible morphology	2332	FMR1	ORPHA:449291
HP:0000277	Abnormal mandible morphology	2332	FMR1	OMIM:300624
HP:0000277	Abnormal mandible morphology	5593	PRKG2	OMIM:619636
HP:0000277	Abnormal mandible morphology	7337	UBE3A	OMIM:105830
HP:0000277	Abnormal mandible morphology	7337	UBE3A	ORPHA:98794
HP:0000277	Abnormal mandible morphology	7337	UBE3A	ORPHA:98795
HP:0000277	Abnormal mandible morphology	7337	UBE3A	ORPHA:411511
HP:0000277	Abnormal mandible morphology	7337	UBE3A	ORPHA:411515
HP:0000277	Abnormal mandible morphology	10907	TXNL4A	OMIM:608572
HP:0000277	Abnormal mandible morphology	55210	ATAD3A	ORPHA:496790
HP:0000277	Abnormal mandible morphology	55210	ATAD3A	OMIM:617183
HP:0000277	Abnormal mandible morphology	6558	SLC12A2	OMIM:619080
HP:0000277	Abnormal mandible morphology	56098	PCDHGC4	OMIM:619880
HP:0000277	Abnormal mandible morphology	4849	CNOT3	OMIM:618672
HP:0000277	Abnormal mandible morphology	6901	TAFAZZIN	OMIM:302060
HP:0000277	Abnormal mandible morphology	4221	MEN1	ORPHA:99725
HP:0000277	Abnormal mandible morphology	55343	SLC35C1	ORPHA:99843
HP:0000277	Abnormal mandible morphology	5727	PTCH1	ORPHA:377
HP:0000277	Abnormal mandible morphology	5727	PTCH1	OMIM:109400
HP:0000277	Abnormal mandible morphology	8643	PTCH2	ORPHA:377
HP:0000277	Abnormal mandible morphology	51684	SUFU	ORPHA:377
HP:0000277	Abnormal mandible morphology	2239	GPC4	ORPHA:373
HP:0000277	Abnormal mandible morphology	2239	GPC4	OMIM:312870
HP:0000277	Abnormal mandible morphology	2719	GPC3	ORPHA:373
HP:0000277	Abnormal mandible morphology	2719	GPC3	OMIM:312870
HP:0000277	Abnormal mandible morphology	8242	KDM5C	OMIM:300534
HP:0000277	Abnormal mandible morphology	7355	SLC35A2	OMIM:300896
HP:0000277	Abnormal mandible morphology	54941	RNF125	OMIM:616260
HP:0000277	Abnormal mandible morphology	5077	PAX3	OMIM:193500
HP:0000277	Abnormal mandible morphology	5077	PAX3	OMIM:148820
HP:0000277	Abnormal mandible morphology	5077	PAX3	ORPHA:894
HP:0000277	Abnormal mandible morphology	10735	STAG2	ORPHA:521258
HP:0000277	Abnormal mandible morphology	2260	FGFR1	OMIM:166250
HP:0000277	Abnormal mandible morphology	2260	FGFR1	OMIM:101600
HP:0000277	Abnormal mandible morphology	6611	SMS	OMIM:309583
HP:0000277	Abnormal mandible morphology	6611	SMS	ORPHA:3063
HP:0000277	Abnormal mandible morphology	5781	PTPN11	OMIM:151100
HP:0000277	Abnormal mandible morphology	2702	GJA5	OMIM:612474
HP:0000277	Abnormal mandible morphology	2703	GJA8	OMIM:612474
HP:0000277	Abnormal mandible morphology	22907	DHX30	OMIM:617804
HP:0000277	Abnormal mandible morphology	8905	AP1S2	OMIM:304340
HP:0000277	Abnormal mandible morphology	8925	HERC1	OMIM:617011
HP:0000277	Abnormal mandible morphology	8925	HERC1	ORPHA:457359
HP:0000277	Abnormal mandible morphology	4038	LRP4	OMIM:614305
HP:0000277	Abnormal mandible morphology	8924	HERC2	OMIM:615516
HP:0000277	Abnormal mandible morphology	546	ATRX	OMIM:301040
HP:0000277	Abnormal mandible morphology	4054	LTBP3	OMIM:601216
HP:0000277	Abnormal mandible morphology	176	ACAN	OMIM:612813
HP:0000277	Abnormal mandible morphology	176	ACAN	OMIM:165800
HP:0000277	Abnormal mandible morphology	176	ACAN	ORPHA:171866
HP:0000277	Abnormal mandible morphology	4952	OCRL	ORPHA:534
HP:0000277	Abnormal mandible morphology	9179	AP4M1	OMIM:612936
HP:0000277	Abnormal mandible morphology	54808	DYM	OMIM:223800
HP:0000277	Abnormal mandible morphology	90161	HS6ST2	OMIM:301025
HP:0000277	Abnormal mandible morphology	4948	OCA2	ORPHA:98794
HP:0000277	Abnormal mandible morphology	4621	MYH3	OMIM:193700
HP:0000277	Abnormal mandible morphology	3756	KCNH1	OMIM:135500
HP:0000277	Abnormal mandible morphology	7965	AIMP2	OMIM:618006
HP:0000277	Abnormal mandible morphology	201163	FLCN	OMIM:610883
HP:0000277	Abnormal mandible morphology	9820	CUL7	OMIM:273750
HP:0000277	Abnormal mandible morphology	92344	GORAB	OMIM:231070
HP:0000277	Abnormal mandible morphology	92344	GORAB	ORPHA:2078
HP:0000277	Abnormal mandible morphology	23389	MED13L	ORPHA:369891
HP:0000277	Abnormal mandible morphology	7136	TNNI2	OMIM:601680
HP:0000277	Abnormal mandible morphology	7703	PCGF2	OMIM:618371
HP:0000277	Abnormal mandible morphology	10524	KAT5	OMIM:619103
HP:0000277	Abnormal mandible morphology	54681	P4HTM	OMIM:618493
HP:0000277	Abnormal mandible morphology	10297	APC2	OMIM:617169
HP:0000277	Abnormal mandible morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000277	Abnormal mandible morphology	6023	RMRP	OMIM:607095
HP:0000277	Abnormal mandible morphology	860	RUNX2	ORPHA:1452
HP:0000277	Abnormal mandible morphology	9791	PTDSS1	OMIM:151050
HP:0000277	Abnormal mandible morphology	9791	PTDSS1	ORPHA:2658
HP:0000277	Abnormal mandible morphology	3643	INSR	OMIM:262190
HP:0000277	Abnormal mandible morphology	3643	INSR	ORPHA:769
HP:0000277	Abnormal mandible morphology	2290	FOXG1	ORPHA:261144
HP:0000277	Abnormal mandible morphology	6424	SFRP4	OMIM:265900
HP:0000277	Abnormal mandible morphology	2892	GRIA3	ORPHA:364028
HP:0000277	Abnormal mandible morphology	26580	BSCL2	OMIM:269700
HP:0000277	Abnormal mandible morphology	26580	BSCL2	ORPHA:528
HP:0000277	Abnormal mandible morphology	2588	GALNS	OMIM:253000
HP:0000277	Abnormal mandible morphology	117581	TWIST2	OMIM:209885
HP:0000277	Abnormal mandible morphology	51002	TPRKB	OMIM:617731
HP:0000277	Abnormal mandible morphology	285590	SH3PXD2B	ORPHA:137834
HP:0000277	Abnormal mandible morphology	4810	NHS	ORPHA:627
HP:0000277	Abnormal mandible morphology	6928	HNF1B	ORPHA:93111
HP:0000277	Abnormal mandible morphology	63932	STEEP1	OMIM:301013
HP:0000277	Abnormal mandible morphology	284252	KCTD1	OMIM:181270
HP:0000277	Abnormal mandible morphology	2893	GRIA4	OMIM:617864
HP:0000277	Abnormal mandible morphology	8292	COLQ	ORPHA:98915
HP:0000277	Abnormal mandible morphology	3913	LAMB2	ORPHA:98915
HP:0000277	Abnormal mandible morphology	4094	MAF	OMIM:601088
HP:0000277	Abnormal mandible morphology	5831	PYCR1	ORPHA:2078
HP:0000277	Abnormal mandible morphology	84081	NSRP1	OMIM:620001
HP:0000277	Abnormal mandible morphology	5468	PPARG	ORPHA:528
HP:0000277	Abnormal mandible morphology	284119	CAVIN1	ORPHA:528
HP:0000277	Abnormal mandible morphology	2353	FOS	ORPHA:528
HP:0000277	Abnormal mandible morphology	857	CAV1	ORPHA:528
HP:0000277	Abnormal mandible morphology	1795	DOCK3	OMIM:618292
HP:0000277	Abnormal mandible morphology	11141	IL1RAPL1	OMIM:300143
HP:0000277	Abnormal mandible morphology	23102	TBC1D2B	ORPHA:397973
HP:0000277	Abnormal mandible morphology	3832	KIF11	OMIM:152950
HP:0000277	Abnormal mandible morphology	83452	RAB33B	OMIM:615222
HP:0000277	Abnormal mandible morphology	5567	PRKACB	OMIM:619143
HP:0000277	Abnormal mandible morphology	529	ATP6V1E1	OMIM:617402
HP:0000277	Abnormal mandible morphology	1460	CSNK2B	OMIM:618732
HP:0000277	Abnormal mandible morphology	84168	ANTXR1	ORPHA:2067
HP:0000277	Abnormal mandible morphology	57194	ATP10A	ORPHA:411515
HP:0000277	Abnormal mandible morphology	25886	POC1A	OMIM:614813
HP:0000277	Abnormal mandible morphology	2737	GLI3	ORPHA:672
HP:0000277	Abnormal mandible morphology	57190	SELENON	ORPHA:324604
HP:0000277	Abnormal mandible morphology	4625	MYH7	ORPHA:324604
HP:0000277	Abnormal mandible morphology	6134	RPL10	OMIM:300998
HP:0000277	Abnormal mandible morphology	6134	RPL10	ORPHA:459070
HP:0000277	Abnormal mandible morphology	286053	NSMCE2	OMIM:617253
HP:0000277	Abnormal mandible morphology	9871	SEC24D	OMIM:616294
HP:0000277	Abnormal mandible morphology	79868	ALG13	OMIM:300884
HP:0000277	Abnormal mandible morphology	5649	RELN	ORPHA:89844
HP:0000277	Abnormal mandible morphology	10300	KATNB1	ORPHA:89844
HP:0000277	Abnormal mandible morphology	54820	NDE1	ORPHA:89844
HP:0000277	Abnormal mandible morphology	55790	CSGALNACT1	OMIM:618870
HP:0000277	Abnormal mandible morphology	26224	FBXL3	OMIM:606220
HP:0000277	Abnormal mandible morphology	84068	SLC10A7	OMIM:618363
HP:0000277	Abnormal mandible morphology	8260	NAA10	OMIM:300855
HP:0000277	Abnormal mandible morphology	8260	NAA10	ORPHA:276432
HP:0000277	Abnormal mandible morphology	113189	CHST14	ORPHA:2953
HP:0000277	Abnormal mandible morphology	113189	CHST14	OMIM:601776
HP:0000277	Abnormal mandible morphology	29940	DSE	ORPHA:2953
HP:0000277	Abnormal mandible morphology	9692	PRORP	OMIM:619737
HP:0000277	Abnormal mandible morphology	7994	KAT6A	ORPHA:457193
HP:0000277	Abnormal mandible morphology	7994	KAT6A	OMIM:616268
HP:0000277	Abnormal mandible morphology	90993	CREB3L1	OMIM:616229
HP:0000277	Abnormal mandible morphology	9325	TRIP4	OMIM:616866
HP:0000277	Abnormal mandible morphology	1717	DHCR7	OMIM:270400
HP:0000277	Abnormal mandible morphology	1501	CTNND2	ORPHA:281
HP:0000277	Abnormal mandible morphology	9037	SEMA5A	ORPHA:281
HP:0000277	Abnormal mandible morphology	23327	NEDD4L	OMIM:617201
HP:0000277	Abnormal mandible morphology	23545	ATP6V0A2	OMIM:278250
HP:0000277	Abnormal mandible morphology	9419	CRIPT	OMIM:615789
HP:0000277	Abnormal mandible morphology	25942	SIN3A	OMIM:613406
HP:0000277	Abnormal mandible morphology	26005	C2CD3	OMIM:615948
HP:0000277	Abnormal mandible morphology	26005	C2CD3	ORPHA:434179
HP:0000277	Abnormal mandible morphology	59336	PRDM13	OMIM:619909
HP:0000277	Abnormal mandible morphology	23443	SLC35A3	OMIM:615553
HP:0000277	Abnormal mandible morphology	9894	TELO2	ORPHA:488642
HP:0000277	Abnormal mandible morphology	55165	CEP55	OMIM:236500
HP:0000277	Abnormal mandible morphology	10682	EBP	OMIM:300960
HP:0000277	Abnormal mandible morphology	23556	PIGN	ORPHA:280633
HP:0000277	Abnormal mandible morphology	2571	GAD1	OMIM:619124
HP:0000277	Abnormal mandible morphology	6872	TAF1	OMIM:300966
HP:0000277	Abnormal mandible morphology	55617	TASP1	OMIM:618950
HP:0000277	Abnormal mandible morphology	51305	KCNK9	OMIM:612292
HP:0000277	Abnormal mandible morphology	5075	PAX1	OMIM:615560
HP:0000277	Abnormal mandible morphology	8481	OFD1	OMIM:311200
HP:0000277	Abnormal mandible morphology	100506658	OCLN	OMIM:251290
HP:0000277	Abnormal mandible morphology	124583	CANT1	OMIM:251450
HP:0000277	Abnormal mandible morphology	7846	TUBA1A	ORPHA:171680
HP:0000277	Abnormal mandible morphology	153241	CEP120	OMIM:616300
HP:0000277	Abnormal mandible morphology	8565	YARS1	OMIM:619418
HP:0000277	Abnormal mandible morphology	9469	CHST3	OMIM:245600
HP:0000277	Abnormal mandible morphology	26229	B3GAT3	OMIM:245600
HP:0000277	Abnormal mandible morphology	26173	INTS1	OMIM:618571
HP:0000277	Abnormal mandible morphology	4897	NRCAM	OMIM:619833
HP:0000277	Abnormal mandible morphology	1134	CHRNA1	OMIM:608930
HP:0000277	Abnormal mandible morphology	1134	CHRNA1	OMIM:253290
HP:0000277	Abnormal mandible morphology	55209	SETD5	ORPHA:404440
HP:0000277	Abnormal mandible morphology	55209	SETD5	OMIM:615761
HP:0000277	Abnormal mandible morphology	2317	FLNB	ORPHA:56305
HP:0000277	Abnormal mandible morphology	2317	FLNB	ORPHA:1190
HP:0000277	Abnormal mandible morphology	2317	FLNB	OMIM:108721
HP:0000277	Abnormal mandible morphology	2317	FLNB	OMIM:108720
HP:0000277	Abnormal mandible morphology	1836	SLC26A2	ORPHA:56304
HP:0000277	Abnormal mandible morphology	1836	SLC26A2	OMIM:256050
HP:0000277	Abnormal mandible morphology	1836	SLC26A2	ORPHA:93298
HP:0000277	Abnormal mandible morphology	1836	SLC26A2	ORPHA:628
HP:0000277	Abnormal mandible morphology	1836	SLC26A2	ORPHA:93307
HP:0000277	Abnormal mandible morphology	6662	SOX9	ORPHA:140
HP:0000277	Abnormal mandible morphology	6662	SOX9	OMIM:114290
HP:0000277	Abnormal mandible morphology	6662	SOX9	ORPHA:718
HP:0000277	Abnormal mandible morphology	2073	ERCC5	OMIM:616570
HP:0000277	Abnormal mandible morphology	2073	ERCC5	ORPHA:1466
HP:0000277	Abnormal mandible morphology	27245	AHDC1	ORPHA:412069
HP:0000277	Abnormal mandible morphology	27245	AHDC1	OMIM:615829
HP:0000277	Abnormal mandible morphology	23426	GRIP1	OMIM:617667
HP:0000277	Abnormal mandible morphology	5184	PEPD	OMIM:170100
HP:0000277	Abnormal mandible morphology	5184	PEPD	ORPHA:742
HP:0000277	Abnormal mandible morphology	57082	KNL1	OMIM:604321
HP:0000277	Abnormal mandible morphology	54453	RIN2	OMIM:613075
HP:0000277	Abnormal mandible morphology	1020	CDK5	OMIM:616342
HP:0000277	Abnormal mandible morphology	79029	AFG2B	OMIM:619616
HP:0000277	Abnormal mandible morphology	64359	NXN	OMIM:618529
HP:0000277	Abnormal mandible morphology	64359	NXN	ORPHA:1507
HP:0000277	Abnormal mandible morphology	9968	MED12	ORPHA:93932
HP:0000277	Abnormal mandible morphology	9968	MED12	ORPHA:776
HP:0000277	Abnormal mandible morphology	9968	MED12	OMIM:309520
HP:0000277	Abnormal mandible morphology	9968	MED12	OMIM:305450
HP:0000277	Abnormal mandible morphology	9968	MED12	OMIM:300895
HP:0000277	Abnormal mandible morphology	55681	SCYL2	OMIM:618766
HP:0000277	Abnormal mandible morphology	55681	SCYL2	ORPHA:1143
HP:0000277	Abnormal mandible morphology	4604	MYBPC1	OMIM:618524
HP:0000277	Abnormal mandible morphology	5191	PEX7	OMIM:215100
HP:0000277	Abnormal mandible morphology	11285	B4GALT7	OMIM:130070
HP:0000277	Abnormal mandible morphology	26038	CHD5	OMIM:619873
HP:0000277	Abnormal mandible morphology	5034	P4HB	OMIM:112240
HP:0000277	Abnormal mandible morphology	5034	P4HB	ORPHA:2050
HP:0000277	Abnormal mandible morphology	6905	TBCE	OMIM:241410
HP:0000277	Abnormal mandible morphology	6905	TBCE	ORPHA:2323
HP:0000277	Abnormal mandible morphology	9091	PIGQ	OMIM:618548
HP:0000277	Abnormal mandible morphology	8818	DPM2	OMIM:615042
HP:0000277	Abnormal mandible morphology	8818	DPM2	ORPHA:329178
HP:0000277	Abnormal mandible morphology	4285	MIPEP	OMIM:617228
HP:0000277	Abnormal mandible morphology	79971	WLS	OMIM:619648
HP:0000277	Abnormal mandible morphology	8642	DCHS1	ORPHA:314679
HP:0000277	Abnormal mandible morphology	8642	DCHS1	OMIM:601390
HP:0000277	Abnormal mandible morphology	1301	COL11A1	ORPHA:440354
HP:0000277	Abnormal mandible morphology	1301	COL11A1	ORPHA:560
HP:0000277	Abnormal mandible morphology	1301	COL11A1	OMIM:154780
HP:0000277	Abnormal mandible morphology	1301	COL11A1	OMIM:604841
HP:0000277	Abnormal mandible morphology	1301	COL11A1	ORPHA:250984
HP:0000277	Abnormal mandible morphology	23483	TGDS	OMIM:616145
HP:0000277	Abnormal mandible morphology	23483	TGDS	ORPHA:1388
HP:0000277	Abnormal mandible morphology	64919	BCL11B	OMIM:617237
HP:0000277	Abnormal mandible morphology	25836	NIPBL	OMIM:122470
HP:0000277	Abnormal mandible morphology	25836	NIPBL	ORPHA:199
HP:0000277	Abnormal mandible morphology	6885	MAP3K7	ORPHA:1826
HP:0000277	Abnormal mandible morphology	6135	RPL11	ORPHA:124
HP:0000277	Abnormal mandible morphology	6138	RPL15	ORPHA:124
HP:0000277	Abnormal mandible morphology	6229	RPS24	ORPHA:124
HP:0000277	Abnormal mandible morphology	6204	RPS10	ORPHA:124
HP:0000277	Abnormal mandible morphology	6224	RPS20	ORPHA:124
HP:0000277	Abnormal mandible morphology	6165	RPL35A	ORPHA:124
HP:0000277	Abnormal mandible morphology	2623	GATA1	ORPHA:124
HP:0000277	Abnormal mandible morphology	6232	RPS27	ORPHA:124
HP:0000277	Abnormal mandible morphology	6231	RPS26	ORPHA:124
HP:0000277	Abnormal mandible morphology	6231	RPS26	OMIM:613309
HP:0000277	Abnormal mandible morphology	11224	RPL35	ORPHA:124
HP:0000277	Abnormal mandible morphology	6160	RPL31	ORPHA:124
HP:0000277	Abnormal mandible morphology	6218	RPS17	ORPHA:124
HP:0000277	Abnormal mandible morphology	6201	RPS7	ORPHA:124
HP:0000277	Abnormal mandible morphology	6155	RPL27	ORPHA:124
HP:0000277	Abnormal mandible morphology	6154	RPL26	ORPHA:124
HP:0000277	Abnormal mandible morphology	6210	RPS15A	ORPHA:124
HP:0000277	Abnormal mandible morphology	90121	TSR2	ORPHA:124
HP:0000277	Abnormal mandible morphology	90121	TSR2	OMIM:300946
HP:0000277	Abnormal mandible morphology	6141	RPL18	ORPHA:124
HP:0000277	Abnormal mandible morphology	6235	RPS29	ORPHA:124
HP:0000277	Abnormal mandible morphology	6234	RPS28	ORPHA:124
HP:0000277	Abnormal mandible morphology	6234	RPS28	OMIM:606164
HP:0000277	Abnormal mandible morphology	51816	ADA2	ORPHA:124
HP:0000277	Abnormal mandible morphology	25970	SH2B1	ORPHA:261197
HP:0000277	Abnormal mandible morphology	9742	IFT140	OMIM:266920
HP:0000277	Abnormal mandible morphology	5881	RAC3	OMIM:618577
HP:0000277	Abnormal mandible morphology	54101	RIPK4	OMIM:263650
HP:0000277	Abnormal mandible morphology	54101	RIPK4	ORPHA:1234
HP:0000277	Abnormal mandible morphology	9427	ECEL1	OMIM:615065
HP:0000277	Abnormal mandible morphology	5426	POLE	OMIM:618336
HP:0000277	Abnormal mandible morphology	5081	PAX7	OMIM:618578
HP:0000277	Abnormal mandible morphology	5813	PURA	ORPHA:314655
HP:0000277	Abnormal mandible morphology	9949	AMMECR1	OMIM:300990
HP:0000277	Abnormal mandible morphology	3479	IGF1	ORPHA:73272
HP:0000277	Abnormal mandible morphology	3479	IGF1	OMIM:608747
HP:0000277	Abnormal mandible morphology	4921	DDR2	OMIM:271665
HP:0000277	Abnormal mandible morphology	9488	PIGB	OMIM:618580
HP:0000277	Abnormal mandible morphology	8573	CASK	OMIM:300749
HP:0000277	Abnormal mandible morphology	8573	CASK	ORPHA:163937
HP:0000277	Abnormal mandible morphology	79912	PYROXD1	OMIM:617258
HP:0000277	Abnormal mandible morphology	1798	DPAGT1	OMIM:608093
HP:0000277	Abnormal mandible morphology	57122	NUP107	OMIM:618348
HP:0000277	Abnormal mandible morphology	57122	NUP107	ORPHA:2065
HP:0000277	Abnormal mandible morphology	57122	NUP107	OMIM:616730
HP:0000277	Abnormal mandible morphology	27125	AFF4	ORPHA:444077
HP:0000277	Abnormal mandible morphology	10733	PLK4	OMIM:616171
HP:0000277	Abnormal mandible morphology	10733	PLK4	ORPHA:808
HP:0000277	Abnormal mandible morphology	2972	BRF1	ORPHA:444072
HP:0000277	Abnormal mandible morphology	91754	NEK9	OMIM:617022
HP:0000277	Abnormal mandible morphology	23114	NFASC	OMIM:618356
HP:0000277	Abnormal mandible morphology	51114	ZDHHC9	ORPHA:776
HP:0000277	Abnormal mandible morphology	29954	POMT2	OMIM:236670
HP:0000277	Abnormal mandible morphology	9215	LARGE1	OMIM:236670
HP:0000277	Abnormal mandible morphology	79147	FKRP	OMIM:236670
HP:0000277	Abnormal mandible morphology	10585	POMT1	OMIM:236670
HP:0000277	Abnormal mandible morphology	2218	FKTN	OMIM:236670
HP:0000277	Abnormal mandible morphology	473	RERE	ORPHA:494344
HP:0000277	Abnormal mandible morphology	473	RERE	OMIM:616975
HP:0000277	Abnormal mandible morphology	5980	REV3L	ORPHA:570
HP:0000277	Abnormal mandible morphology	23129	PLXND1	ORPHA:570
HP:0000277	Abnormal mandible morphology	51132	RLIM	OMIM:300978
HP:0000277	Abnormal mandible morphology	63925	ZNF335	OMIM:615095
HP:0000277	Abnormal mandible morphology	22930	RAB3GAP1	OMIM:600118
HP:0000277	Abnormal mandible morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000277	Abnormal mandible morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000277	Abnormal mandible morphology	51434	ANAPC7	OMIM:619699
HP:0000277	Abnormal mandible morphology	92255	LMBRD2	OMIM:619694
HP:0000277	Abnormal mandible morphology	7468	NSD2	OMIM:619695
HP:0000277	Abnormal mandible morphology	7468	NSD2	OMIM:194190
HP:0000277	Abnormal mandible morphology	7468	NSD2	ORPHA:280
HP:0000277	Abnormal mandible morphology	1312	COMT	ORPHA:567
HP:0000277	Abnormal mandible morphology	221037	JMJD1C	ORPHA:567
HP:0000277	Abnormal mandible morphology	2812	GP1BB	ORPHA:567
HP:0000277	Abnormal mandible morphology	6239	RREB1	ORPHA:567
HP:0000277	Abnormal mandible morphology	7290	HIRA	ORPHA:567
HP:0000277	Abnormal mandible morphology	9632	SEC24C	ORPHA:567
HP:0000277	Abnormal mandible morphology	7353	UFD1	ORPHA:567
HP:0000277	Abnormal mandible morphology	421	ARVCF	ORPHA:567
HP:0000277	Abnormal mandible morphology	538	ATP7A	ORPHA:565
HP:0000277	Abnormal mandible morphology	79867	TCTN2	ORPHA:564
HP:0000277	Abnormal mandible morphology	80776	B9D2	ORPHA:564
HP:0000277	Abnormal mandible morphology	79600	TCTN1	ORPHA:564
HP:0000277	Abnormal mandible morphology	57096	RPGRIP1	ORPHA:564
HP:0000277	Abnormal mandible morphology	79848	CSPP1	ORPHA:564
HP:0000277	Abnormal mandible morphology	79848	CSPP1	ORPHA:397715
HP:0000277	Abnormal mandible morphology	80184	CEP290	ORPHA:564
HP:0000277	Abnormal mandible morphology	51259	TMEM216	ORPHA:564
HP:0000277	Abnormal mandible morphology	51259	TMEM216	ORPHA:2754
HP:0000277	Abnormal mandible morphology	57545	CC2D2A	ORPHA:564
HP:0000277	Abnormal mandible morphology	79583	TMEM231	ORPHA:564
HP:0000277	Abnormal mandible morphology	91147	TMEM67	ORPHA:564
HP:0000277	Abnormal mandible morphology	27077	B9D1	ORPHA:564
HP:0000277	Abnormal mandible morphology	23322	RPGRIP1L	ORPHA:564
HP:0000277	Abnormal mandible morphology	54903	MKS1	ORPHA:564
HP:0000277	Abnormal mandible morphology	54903	MKS1	OMIM:249000
HP:0000277	Abnormal mandible morphology	65062	TMEM237	ORPHA:564
HP:0000277	Abnormal mandible morphology	7317	UBA1	OMIM:301830
HP:0000277	Abnormal mandible morphology	3188	HNRNPH2	OMIM:300986
HP:0000277	Abnormal mandible morphology	4613	MYCN	OMIM:164280
HP:0000277	Abnormal mandible morphology	4613	MYCN	ORPHA:391641
HP:0000277	Abnormal mandible morphology	4593	MUSK	ORPHA:994
HP:0000277	Abnormal mandible morphology	4593	MUSK	OMIM:208150
HP:0000277	Abnormal mandible morphology	5913	RAPSN	ORPHA:994
HP:0000277	Abnormal mandible morphology	5913	RAPSN	OMIM:618388
HP:0000277	Abnormal mandible morphology	285489	DOK7	ORPHA:994
HP:0000277	Abnormal mandible morphology	285489	DOK7	OMIM:618389
HP:0000277	Abnormal mandible morphology	50801	KCNK4	OMIM:618381
HP:0000277	Abnormal mandible morphology	65250	CPLANE1	OMIM:277170
HP:0000277	Abnormal mandible morphology	65250	CPLANE1	ORPHA:2754
HP:0000277	Abnormal mandible morphology	134218	DNAJC21	OMIM:617052
HP:0000277	Abnormal mandible morphology	6608	SMO	OMIM:241800
HP:0000277	Abnormal mandible morphology	80036	TRPM3	OMIM:620224
HP:0000277	Abnormal mandible morphology	10283	CWC27	ORPHA:166035
HP:0000277	Abnormal mandible morphology	10283	CWC27	OMIM:250410
HP:0000277	Abnormal mandible morphology	2887	GRB10	ORPHA:96182
HP:0000277	Abnormal mandible morphology	25839	COG4	OMIM:618150
HP:0000277	Abnormal mandible morphology	1457	CSNK2A1	OMIM:617062
HP:0000277	Abnormal mandible morphology	203068	TUBB	OMIM:156610
HP:0000277	Abnormal mandible morphology	203068	TUBB	ORPHA:2505
HP:0000277	Abnormal mandible morphology	55640	FLVCR2	OMIM:225790
HP:0000277	Abnormal mandible morphology	23112	TNRC6B	OMIM:619243
HP:0000277	Abnormal mandible morphology	9373	PLAA	ORPHA:521426
HP:0000277	Abnormal mandible morphology	9373	PLAA	OMIM:617527
HP:0000277	Abnormal mandible morphology	93587	TRMT10A	ORPHA:391408
HP:0000277	Abnormal mandible morphology	84919	PPP1R15B	ORPHA:391408
HP:0000277	Abnormal mandible morphology	84919	PPP1R15B	OMIM:616817
HP:0000277	Abnormal mandible morphology	199221	DZIP1L	ORPHA:731
HP:0000277	Abnormal mandible morphology	5314	PKHD1	ORPHA:731
HP:0000277	Abnormal mandible morphology	60386	SLC25A19	OMIM:607196
HP:0000277	Abnormal mandible morphology	60386	SLC25A19	ORPHA:99742
HP:0000277	Abnormal mandible morphology	126792	B3GALT6	OMIM:271640
HP:0000277	Abnormal mandible morphology	126792	B3GALT6	OMIM:609465
HP:0000277	Abnormal mandible morphology	126792	B3GALT6	ORPHA:93359
HP:0000277	Abnormal mandible morphology	126792	B3GALT6	ORPHA:536467
HP:0000277	Abnormal mandible morphology	10436	EMG1	OMIM:211180
HP:0000277	Abnormal mandible morphology	10436	EMG1	ORPHA:1270
HP:0000277	Abnormal mandible morphology	5745	PTH1R	OMIM:156400
HP:0000277	Abnormal mandible morphology	5745	PTH1R	OMIM:215045
HP:0000277	Abnormal mandible morphology	5745	PTH1R	ORPHA:50945
HP:0000277	Abnormal mandible morphology	6748	SSR4	OMIM:300934
HP:0000277	Abnormal mandible morphology	84464	SLX4	OMIM:613951
HP:0000277	Abnormal mandible morphology	84464	SLX4	ORPHA:84
HP:0000277	Abnormal mandible morphology	5557	PRIM1	OMIM:620005
HP:0000277	Abnormal mandible morphology	2801	GOLGA2	OMIM:620240
HP:0000277	Abnormal mandible morphology	9897	WASHC5	ORPHA:7
HP:0000277	Abnormal mandible morphology	9897	WASHC5	OMIM:220210
HP:0000277	Abnormal mandible morphology	28952	CCDC22	ORPHA:7
HP:0000277	Abnormal mandible morphology	114034	TOE1	ORPHA:284339
HP:0000277	Abnormal mandible morphology	114034	TOE1	OMIM:614969
HP:0000277	Abnormal mandible morphology	9562	MINPP1	ORPHA:284339
HP:0000277	Abnormal mandible morphology	55181	SMG8	OMIM:619268
HP:0000277	Abnormal mandible morphology	51109	RDH11	ORPHA:436245
HP:0000277	Abnormal mandible morphology	84942	WDR73	ORPHA:2065
HP:0000277	Abnormal mandible morphology	84942	WDR73	OMIM:251300
HP:0000277	Abnormal mandible morphology	55644	OSGEP	ORPHA:2065
HP:0000277	Abnormal mandible morphology	55644	OSGEP	OMIM:617729
HP:0000277	Abnormal mandible morphology	10785	WDR4	ORPHA:2065
HP:0000277	Abnormal mandible morphology	55746	NUP133	ORPHA:2065
HP:0000277	Abnormal mandible morphology	112858	TP53RK	ORPHA:2065
HP:0000277	Abnormal mandible morphology	8270	LAGE3	ORPHA:2065
HP:0000277	Abnormal mandible morphology	8270	LAGE3	OMIM:301006
HP:0000277	Abnormal mandible morphology	8085	KMT2D	OMIM:147920
HP:0000277	Abnormal mandible morphology	8085	KMT2D	OMIM:620186
HP:0000277	Abnormal mandible morphology	7403	KDM6A	OMIM:147920
HP:0000277	Abnormal mandible morphology	7403	KDM6A	OMIM:300867
HP:0000277	Abnormal mandible morphology	168667	BMPER	OMIM:608022
HP:0000277	Abnormal mandible morphology	6309	SC5D	ORPHA:46059
HP:0000277	Abnormal mandible morphology	6309	SC5D	OMIM:607330
HP:0000277	Abnormal mandible morphology	161742	SPRED1	OMIM:611431
HP:0000277	Abnormal mandible morphology	673	BRAF	OMIM:115150
HP:0000277	Abnormal mandible morphology	673	BRAF	OMIM:163950
HP:0000277	Abnormal mandible morphology	7518	XRCC4	ORPHA:99812
HP:0000277	Abnormal mandible morphology	7518	XRCC4	ORPHA:436182
HP:0000277	Abnormal mandible morphology	3981	LIG4	ORPHA:99812
HP:0000277	Abnormal mandible morphology	3981	LIG4	ORPHA:235
HP:0000277	Abnormal mandible morphology	1303	COL12A1	ORPHA:75840
HP:0000277	Abnormal mandible morphology	1303	COL12A1	ORPHA:536516
HP:0000277	Abnormal mandible morphology	1291	COL6A1	ORPHA:75840
HP:0000277	Abnormal mandible morphology	1292	COL6A2	ORPHA:75840
HP:0000277	Abnormal mandible morphology	1293	COL6A3	ORPHA:75840
HP:0000277	Abnormal mandible morphology	55112	DYNC2I1	ORPHA:93271
HP:0000277	Abnormal mandible morphology	57560	IFT80	ORPHA:93271
HP:0000277	Abnormal mandible morphology	79659	DYNC2H1	ORPHA:93271
HP:0000277	Abnormal mandible morphology	89891	DYNC2I2	ORPHA:93271
HP:0000277	Abnormal mandible morphology	80232	WDR26	ORPHA:513456
HP:0000277	Abnormal mandible morphology	80232	WDR26	OMIM:617616
HP:0000277	Abnormal mandible morphology	5818	NECTIN1	ORPHA:3253
HP:0000277	Abnormal mandible morphology	55780	ERMARD	ORPHA:75857
HP:0000277	Abnormal mandible morphology	10225	CD96	OMIM:211750
HP:0000277	Abnormal mandible morphology	10225	CD96	ORPHA:1308
HP:0000277	Abnormal mandible morphology	9382	COG1	OMIM:611209
HP:0000277	Abnormal mandible morphology	9382	COG1	ORPHA:263508
HP:0000277	Abnormal mandible morphology	1763	DNA2	OMIM:615807
HP:0000277	Abnormal mandible morphology	1801	DPH1	OMIM:616901
HP:0000277	Abnormal mandible morphology	1801	DPH1	ORPHA:459061
HP:0000277	Abnormal mandible morphology	672	BRCA1	ORPHA:84
HP:0000277	Abnormal mandible morphology	10459	MAD2L2	ORPHA:84
HP:0000277	Abnormal mandible morphology	7516	XRCC2	ORPHA:84
HP:0000277	Abnormal mandible morphology	29089	UBE2T	ORPHA:84
HP:0000277	Abnormal mandible morphology	675	BRCA2	ORPHA:84
HP:0000277	Abnormal mandible morphology	55120	FANCL	ORPHA:84
HP:0000277	Abnormal mandible morphology	55120	FANCL	OMIM:614083
HP:0000277	Abnormal mandible morphology	2177	FANCD2	ORPHA:84
HP:0000277	Abnormal mandible morphology	2175	FANCA	ORPHA:84
HP:0000277	Abnormal mandible morphology	2176	FANCC	ORPHA:84
HP:0000277	Abnormal mandible morphology	2178	FANCE	ORPHA:84
HP:0000277	Abnormal mandible morphology	2188	FANCF	ORPHA:84
HP:0000277	Abnormal mandible morphology	2189	FANCG	ORPHA:84
HP:0000277	Abnormal mandible morphology	5888	RAD51	ORPHA:84
HP:0000277	Abnormal mandible morphology	5889	RAD51C	ORPHA:84
HP:0000277	Abnormal mandible morphology	55159	RFWD3	ORPHA:84
HP:0000277	Abnormal mandible morphology	83990	BRIP1	ORPHA:84
HP:0000277	Abnormal mandible morphology	57697	FANCM	ORPHA:84
HP:0000277	Abnormal mandible morphology	79728	PALB2	ORPHA:84
HP:0000277	Abnormal mandible morphology	55215	FANCI	ORPHA:84
HP:0000277	Abnormal mandible morphology	9896	FIG4	ORPHA:3472
HP:0000277	Abnormal mandible morphology	9896	FIG4	OMIM:216340
HP:0000277	Abnormal mandible morphology	55697	VAC14	ORPHA:3472
HP:0000277	Abnormal mandible morphology	9184	BUB3	ORPHA:1052
HP:0000277	Abnormal mandible morphology	699	BUB1	ORPHA:1052
HP:0000277	Abnormal mandible morphology	9702	CEP57	ORPHA:1052
HP:0000277	Abnormal mandible morphology	9702	CEP57	OMIM:614114
HP:0000277	Abnormal mandible morphology	9319	TRIP13	ORPHA:1052
HP:0000277	Abnormal mandible morphology	701	BUB1B	ORPHA:1052
HP:0000277	Abnormal mandible morphology	701	BUB1B	OMIM:257300
HP:0000277	Abnormal mandible morphology	23036	ZNF292	OMIM:619188
HP:0000277	Abnormal mandible morphology	23314	SATB2	OMIM:612313
HP:0000277	Abnormal mandible morphology	23314	SATB2	ORPHA:576283
HP:0000277	Abnormal mandible morphology	23314	SATB2	ORPHA:251028
HP:0000277	Abnormal mandible morphology	23314	SATB2	ORPHA:251019
HP:0000277	Abnormal mandible morphology	55636	CHD7	OMIM:214800
HP:0000277	Abnormal mandible morphology	526	ATP6V1B2	ORPHA:3473
HP:0000277	Abnormal mandible morphology	3782	KCNN3	ORPHA:3473
HP:0000277	Abnormal mandible morphology	53834	FGFRL1	OMIM:194190
HP:0000277	Abnormal mandible morphology	3954	LETM1	OMIM:194190
HP:0000277	Abnormal mandible morphology	3954	LETM1	ORPHA:280
HP:0000277	Abnormal mandible morphology	3954	LETM1	OMIM:620089
HP:0000277	Abnormal mandible morphology	10815	CPLX1	OMIM:194190
HP:0000277	Abnormal mandible morphology	10815	CPLX1	ORPHA:280
HP:0000277	Abnormal mandible morphology	165	AEBP1	ORPHA:536532
HP:0000277	Abnormal mandible morphology	165	AEBP1	OMIM:618000
HP:0000277	Abnormal mandible morphology	3192	HNRNPU	ORPHA:238769
HP:0000277	Abnormal mandible morphology	10013	HDAC6	ORPHA:163966
HP:0000277	Abnormal mandible morphology	3211	HOXB1	OMIM:614744
HP:0000277	Abnormal mandible morphology	54499	TMCO1	OMIM:213980
HP:0000277	Abnormal mandible morphology	23137	SMC5	OMIM:620185
HP:0000277	Abnormal mandible morphology	79759	ZNF668	OMIM:620194
HP:0000277	Abnormal mandible morphology	57459	GATAD2B	ORPHA:363686
HP:0000277	Abnormal mandible morphology	6473	SHOX	OMIM:249700
HP:0000277	Abnormal mandible morphology	6473	SHOX	ORPHA:314795
HP:0000277	Abnormal mandible morphology	81887	LAS1L	ORPHA:3459
HP:0000277	Abnormal mandible morphology	23261	CAMTA1	OMIM:614756
HP:0000277	Abnormal mandible morphology	10472	ZBTB18	OMIM:612337
HP:0000277	Abnormal mandible morphology	10472	ZBTB18	ORPHA:36367
HP:0000277	Abnormal mandible morphology	2255	FGF10	ORPHA:2363
HP:0000277	Abnormal mandible morphology	8813	DPM1	OMIM:608799
HP:0000277	Abnormal mandible morphology	8813	DPM1	ORPHA:79322
HP:0000277	Abnormal mandible morphology	55275	VPS53	OMIM:615851
HP:0000277	Abnormal mandible morphology	545	ATR	ORPHA:808
HP:0000277	Abnormal mandible morphology	545	ATR	OMIM:210600
HP:0000277	Abnormal mandible morphology	1062	CENPE	ORPHA:808
HP:0000277	Abnormal mandible morphology	1062	CENPE	OMIM:616051
HP:0000277	Abnormal mandible morphology	79902	NUP85	ORPHA:808
HP:0000277	Abnormal mandible morphology	84126	ATRIP	ORPHA:808
HP:0000277	Abnormal mandible morphology	10293	TRAIP	ORPHA:808
HP:0000277	Abnormal mandible morphology	10293	TRAIP	OMIM:616777
HP:0000277	Abnormal mandible morphology	1302	COL11A2	OMIM:614524
HP:0000277	Abnormal mandible morphology	1302	COL11A2	ORPHA:1427
HP:0000277	Abnormal mandible morphology	1302	COL11A2	ORPHA:166100
HP:0000277	Abnormal mandible morphology	1302	COL11A2	OMIM:215150
HP:0000277	Abnormal mandible morphology	80324	PUS1	ORPHA:2598
HP:0000277	Abnormal mandible morphology	80324	PUS1	OMIM:600462
HP:0000277	Abnormal mandible morphology	51067	YARS2	ORPHA:2598
HP:0000277	Abnormal mandible morphology	28962	OSTM1	OMIM:259720
HP:0000277	Abnormal mandible morphology	2303	FOXC2	OMIM:153400
HP:0000277	Abnormal mandible morphology	7407	VARS1	OMIM:617802
HP:0000277	Abnormal mandible morphology	8216	LZTR1	OMIM:605275
HP:0000277	Abnormal mandible morphology	8216	LZTR1	ORPHA:648
HP:0000277	Abnormal mandible morphology	56052	ALG1	OMIM:608540
HP:0000277	Abnormal mandible morphology	10075	HUWE1	OMIM:309590
HP:0000277	Abnormal mandible morphology	10159	ATP6AP2	OMIM:301045
HP:0000277	Abnormal mandible morphology	27238	GPKOW	ORPHA:2570
HP:0000277	Abnormal mandible morphology	22856	CHSY1	ORPHA:363417
HP:0000277	Abnormal mandible morphology	4854	NOTCH3	OMIM:130720
HP:0000277	Abnormal mandible morphology	4854	NOTCH3	ORPHA:2789
HP:0000277	Abnormal mandible morphology	84162	BLTP1	OMIM:617822
HP:0000277	Abnormal mandible morphology	10982	MAPRE2	OMIM:616734
HP:0000277	Abnormal mandible morphology	10982	MAPRE2	ORPHA:2505
HP:0000277	Abnormal mandible morphology	57211	ADGRG6	OMIM:616503
HP:0000277	Abnormal mandible morphology	259232	NALCN	OMIM:615419
HP:0000277	Abnormal mandible morphology	259232	NALCN	OMIM:616266
HP:0000277	Abnormal mandible morphology	259232	NALCN	ORPHA:1147
HP:0000277	Abnormal mandible morphology	259232	NALCN	ORPHA:371364
HP:0000277	Abnormal mandible morphology	5723	PSPH	ORPHA:79350
HP:0000277	Abnormal mandible morphology	9343	EFTUD2	ORPHA:79113
HP:0000277	Abnormal mandible morphology	9343	EFTUD2	OMIM:610536
HP:0000277	Abnormal mandible morphology	23476	BRD4	ORPHA:199
HP:0000277	Abnormal mandible morphology	9126	SMC3	ORPHA:199
HP:0000277	Abnormal mandible morphology	9126	SMC3	OMIM:610759
HP:0000277	Abnormal mandible morphology	5885	RAD21	ORPHA:199
HP:0000277	Abnormal mandible morphology	157680	VPS13B	ORPHA:193
HP:0000277	Abnormal mandible morphology	157680	VPS13B	OMIM:216550
HP:0000277	Abnormal mandible morphology	9150	CTDP1	ORPHA:48431
HP:0000277	Abnormal mandible morphology	1861	TOR1A	OMIM:618947
HP:0000277	Abnormal mandible morphology	9935	MAFB	ORPHA:2774
HP:0000277	Abnormal mandible morphology	9935	MAFB	ORPHA:233
HP:0000277	Abnormal mandible morphology	9935	MAFB	OMIM:166300
HP:0000277	Abnormal mandible morphology	5297	PI4KA	OMIM:616531
HP:0000277	Abnormal mandible morphology	5297	PI4KA	ORPHA:98889
HP:0000277	Abnormal mandible morphology	5297	PI4KA	OMIM:619708
HP:0000277	Abnormal mandible morphology	112752	IFT43	OMIM:617866
HP:0000277	Abnormal mandible morphology	112752	IFT43	OMIM:614099
HP:0000277	Abnormal mandible morphology	113246	C12orf57	OMIM:218340
HP:0000277	Abnormal mandible morphology	84700	MYO18B	OMIM:616549
HP:0000277	Abnormal mandible morphology	1146	CHRNG	ORPHA:2990
HP:0000277	Abnormal mandible morphology	1146	CHRNG	OMIM:265000
HP:0000277	Abnormal mandible morphology	1146	CHRNG	OMIM:253290
HP:0000277	Abnormal mandible morphology	9939	RBM8A	OMIM:274000
HP:0000277	Abnormal mandible morphology	9939	RBM8A	ORPHA:3320
HP:0000277	Abnormal mandible morphology	7473	WNT3	OMIM:273395
HP:0000277	Abnormal mandible morphology	7473	WNT3	ORPHA:3301
HP:0000277	Abnormal mandible morphology	4750	NEK1	ORPHA:2751
HP:0000277	Abnormal mandible morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000277	Abnormal mandible morphology	25782	RAB3GAP2	OMIM:212720
HP:0000277	Abnormal mandible morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000277	Abnormal mandible morphology	22931	RAB18	ORPHA:2510
HP:0000277	Abnormal mandible morphology	22931	RAB18	OMIM:614222
HP:0000277	Abnormal mandible morphology	128637	TBC1D20	ORPHA:2510
HP:0000277	Abnormal mandible morphology	10210	TOPORS	ORPHA:2754
HP:0000277	Abnormal mandible morphology	9851	KIAA0753	ORPHA:2754
HP:0000277	Abnormal mandible morphology	5147	PDE6D	ORPHA:2754
HP:0000277	Abnormal mandible morphology	317662	FAM149B1	ORPHA:2754
HP:0000277	Abnormal mandible morphology	55553	SOX6	OMIM:618971
HP:0000277	Abnormal mandible morphology	4281	MID1	ORPHA:2745
HP:0000277	Abnormal mandible morphology	8398	PLA2G6	OMIM:256600
HP:0000277	Abnormal mandible morphology	246329	STAC3	OMIM:255995
HP:0000277	Abnormal mandible morphology	246329	STAC3	ORPHA:168572
HP:0000277	Abnormal mandible morphology	3762	KCNJ5	ORPHA:37553
HP:0000277	Abnormal mandible morphology	2137	EXTL3	ORPHA:508533
HP:0000277	Abnormal mandible morphology	7528	YY1	ORPHA:506358
HP:0000277	Abnormal mandible morphology	7528	YY1	OMIM:617557
HP:0000277	Abnormal mandible morphology	23141	ANKLE2	OMIM:616681
HP:0000277	Abnormal mandible morphology	8294	H4C9	OMIM:619951
HP:0000277	Abnormal mandible morphology	83932	SPRTN	OMIM:616200
HP:0000277	Abnormal mandible morphology	5830	PEX5	OMIM:214110
HP:0000277	Abnormal mandible morphology	5830	PEX5	ORPHA:912
HP:0000277	Abnormal mandible morphology	64220	STRA6	OMIM:601186
HP:0000277	Abnormal mandible morphology	9786	KIAA0586	ORPHA:397715
HP:0000277	Abnormal mandible morphology	1723	DHODH	OMIM:263750
HP:0000277	Abnormal mandible morphology	1723	DHODH	ORPHA:246
HP:0000277	Abnormal mandible morphology	72	ACTG2	ORPHA:2604
HP:0000277	Abnormal mandible morphology	2201	FBN2	OMIM:121050
HP:0000277	Abnormal mandible morphology	4286	MITF	OMIM:617306
HP:0000277	Abnormal mandible morphology	5189	PEX1	OMIM:214100
HP:0000277	Abnormal mandible morphology	5189	PEX1	ORPHA:912
HP:0000277	Abnormal mandible morphology	716	C1S	ORPHA:75392
HP:0000277	Abnormal mandible morphology	715	C1R	ORPHA:75392
HP:0000277	Abnormal mandible morphology	10381	TUBB3	ORPHA:300570
HP:0000277	Abnormal mandible morphology	2626	GATA4	ORPHA:251071
HP:0000277	Abnormal mandible morphology	7020	TFAP2A	OMIM:113620
HP:0000277	Abnormal mandible morphology	54872	PIGG	ORPHA:280
HP:0000277	Abnormal mandible morphology	7469	NELFA	ORPHA:280
HP:0000277	Abnormal mandible morphology	22872	SEC31A	OMIM:618651
HP:0000277	Abnormal mandible morphology	4763	NF1	ORPHA:363700
HP:0000277	Abnormal mandible morphology	5424	POLD1	OMIM:615381
HP:0000277	Abnormal mandible morphology	57498	KIDINS220	OMIM:619501
HP:0000277	Abnormal mandible morphology	4174	MCM5	OMIM:617564
HP:0000277	Abnormal mandible morphology	57178	ZMIZ1	OMIM:618659
HP:0000277	Abnormal mandible morphology	8241	RBM10	OMIM:311900
HP:0000277	Abnormal mandible morphology	8241	RBM10	ORPHA:2886
HP:0000277	Abnormal mandible morphology	57167	SALL4	ORPHA:233
HP:0000277	Abnormal mandible morphology	1123	CHN1	ORPHA:233
HP:0000277	Abnormal mandible morphology	1789	DNMT3B	OMIM:242860
HP:0000277	Abnormal mandible morphology	1789	DNMT3B	ORPHA:2268
HP:0000277	Abnormal mandible morphology	54888	NSUN2	ORPHA:235
HP:0000277	Abnormal mandible morphology	54914	FOCAD	OMIM:619991
HP:0000277	Abnormal mandible morphology	286	ANK1	ORPHA:251066
HP:0000277	Abnormal mandible morphology	145258	GSC	OMIM:602471
HP:0000277	Abnormal mandible morphology	2248	FGF3	OMIM:610706
HP:0000277	Abnormal mandible morphology	2248	FGF3	ORPHA:90024
HP:0000277	Abnormal mandible morphology	54928	BPNT2	OMIM:614078
HP:0000277	Abnormal mandible morphology	9928	KIF14	OMIM:616258
HP:0000277	Abnormal mandible morphology	2542	SLC37A4	OMIM:619525
HP:0000277	Abnormal mandible morphology	57724	EPG5	OMIM:242840
HP:0000277	Abnormal mandible morphology	23162	MAPK8IP3	OMIM:618443
HP:0000277	Abnormal mandible morphology	4123	MAN2C1	OMIM:619775
HP:0000277	Abnormal mandible morphology	8218	CLTCL1	ORPHA:453510
HP:0000277	Abnormal mandible morphology	23219	FBXO28	OMIM:619777
HP:0000277	Abnormal mandible morphology	9496	TBX4	OMIM:147891
HP:0000277	Abnormal mandible morphology	79087	ALG12	ORPHA:79324
HP:0000277	Abnormal mandible morphology	8295	TRRAP	OMIM:618454
HP:0000277	Abnormal mandible morphology	3763	KCNJ6	OMIM:614098
HP:0000277	Abnormal mandible morphology	3763	KCNJ6	ORPHA:435628
HP:0000277	Abnormal mandible morphology	29968	PSAT1	OMIM:616038
HP:0000277	Abnormal mandible morphology	29968	PSAT1	ORPHA:284417
HP:0000277	Abnormal mandible morphology	58497	PRUNE1	ORPHA:544469
HP:0000277	Abnormal mandible morphology	5062	PAK2	OMIM:618458
HP:0000277	Abnormal mandible morphology	54892	NCAPG2	OMIM:618460
HP:0000277	Abnormal mandible morphology	221496	LEMD2	OMIM:619322
HP:0000277	Abnormal mandible morphology	29998	BICRA	OMIM:619325
HP:0000277	Abnormal mandible morphology	23030	KDM4B	OMIM:619320
HP:0000277	Abnormal mandible morphology	1363	CPE	OMIM:619326
HP:0000277	Abnormal mandible morphology	6904	TBCD	ORPHA:496641
HP:0000277	Abnormal mandible morphology	6904	TBCD	OMIM:617193
HP:0000277	Abnormal mandible morphology	170302	ARX	ORPHA:452
HP:0000277	Abnormal mandible morphology	170302	ARX	OMIM:300215
HP:0000277	Abnormal mandible morphology	23221	RHOBTB2	OMIM:618004
HP:0000277	Abnormal mandible morphology	10082	GPC6	OMIM:258315
HP:0000277	Abnormal mandible morphology	10082	GPC6	ORPHA:93329
HP:0000277	Abnormal mandible morphology	1147	CHUK	OMIM:619339
HP:0000277	Abnormal mandible morphology	8091	HMGA2	ORPHA:94063
HP:0000277	Abnormal mandible morphology	8091	HMGA2	ORPHA:397590
HP:0000277	Abnormal mandible morphology	23592	LEMD3	ORPHA:94063
HP:0000277	Abnormal mandible morphology	26276	VPS33B	OMIM:208085
HP:0000277	Abnormal mandible morphology	5277	PIGA	OMIM:300868
HP:0000277	Abnormal mandible morphology	23384	SPECC1L	OMIM:145420
HP:0000277	Abnormal mandible morphology	80347	COASY	OMIM:618266
HP:0000277	Abnormal mandible morphology	5281	PIGF	OMIM:619356
HP:0000277	Abnormal mandible morphology	51604	PIGT	ORPHA:369837
HP:0000277	Abnormal mandible morphology	145173	B3GLCT	OMIM:261540
HP:0000277	Abnormal mandible morphology	145173	B3GLCT	ORPHA:709
HP:0000277	Abnormal mandible morphology	2132	EXT2	ORPHA:52022
HP:0000277	Abnormal mandible morphology	60529	ALX4	ORPHA:52022
HP:0000277	Abnormal mandible morphology	51317	PHF21A	ORPHA:52022
HP:0000277	Abnormal mandible morphology	23405	DICER1	OMIM:618272
HP:0000277	Abnormal mandible morphology	51715	RAB23	OMIM:201000
HP:0000277	Abnormal mandible morphology	10651	MTX2	OMIM:619127
HP:0000277	Abnormal mandible morphology	29123	ANKRD11	ORPHA:261250
HP:0000277	Abnormal mandible morphology	10220	GDF11	OMIM:619122
HP:0000277	Abnormal mandible morphology	90416	CCDC32	OMIM:619123
HP:0000277	Abnormal mandible morphology	5080	PAX6	ORPHA:893
HP:0000277	Abnormal mandible morphology	627	BDNF	ORPHA:893
HP:0000277	Abnormal mandible morphology	7490	WT1	ORPHA:893
HP:0000277	Abnormal mandible morphology	84905	ZNF341	OMIM:618282
HP:0000277	Abnormal mandible morphology	57020	VPS35L	OMIM:619135
HP:0000277	Abnormal mandible morphology	1984	EIF5A	OMIM:619376
HP:0000277	Abnormal mandible morphology	5236	PGM1	OMIM:614921
HP:0000277	Abnormal mandible morphology	22800	RRAS2	ORPHA:648
HP:0000277	Abnormal mandible morphology	6016	RIT1	ORPHA:648
HP:0000277	Abnormal mandible morphology	6237	RRAS	ORPHA:648
HP:0000277	Abnormal mandible morphology	22808	MRAS	ORPHA:648
HP:0000277	Abnormal mandible morphology	200734	SPRED2	ORPHA:648
HP:0000277	Abnormal mandible morphology	4893	NRAS	ORPHA:648
HP:0000277	Abnormal mandible morphology	6654	SOS1	ORPHA:648
HP:0000277	Abnormal mandible morphology	6655	SOS2	ORPHA:648
HP:0000277	Abnormal mandible morphology	5922	RASA2	ORPHA:648
HP:0000277	Abnormal mandible morphology	23299	BICD2	OMIM:618291
HP:0000277	Abnormal mandible morphology	6913	TBX15	OMIM:260660
HP:0000277	Abnormal mandible morphology	871	SERPINH1	OMIM:613848
HP:0000277	Abnormal mandible morphology	2690	GHR	ORPHA:633
HP:0000277	Abnormal mandible morphology	121340	SP7	OMIM:613849
HP:0000277	Abnormal mandible morphology	83483	PLVAP	OMIM:618183
HP:0000277	Abnormal mandible morphology	10128	LRPPRC	OMIM:220111
HP:0000277	Abnormal mandible morphology	775	CACNA1C	OMIM:620029
HP:0000277	Abnormal mandible morphology	55624	POMGNT1	OMIM:253280
HP:0000277	Abnormal mandible morphology	8854	ALDH1A2	OMIM:620025
HP:0000277	Abnormal mandible morphology	10274	STAG1	ORPHA:502434
HP:0000277	Abnormal mandible morphology	10992	SF3B2	OMIM:164210
HP:0000277	Abnormal mandible morphology	23118	TAB2	ORPHA:228410
HP:0000277	Abnormal mandible morphology	8443	GNPAT	OMIM:222765
HP:0000277	Abnormal mandible morphology	4703	NEB	ORPHA:171436
HP:0000277	Abnormal mandible morphology	4703	NEB	ORPHA:171439
HP:0000277	Abnormal mandible morphology	10324	KLHL41	ORPHA:171436
HP:0000277	Abnormal mandible morphology	10324	KLHL41	OMIM:615731
HP:0000277	Abnormal mandible morphology	10324	KLHL41	ORPHA:171439
HP:0000277	Abnormal mandible morphology	56203	LMOD3	ORPHA:171436
HP:0000277	Abnormal mandible morphology	1073	CFL2	ORPHA:171436
HP:0000277	Abnormal mandible morphology	22858	CILK1	OMIM:612651
HP:0000277	Abnormal mandible morphology	3483	IGFALS	ORPHA:140941
HP:0000277	Abnormal mandible morphology	283989	TSEN54	ORPHA:166063
HP:0000277	Abnormal mandible morphology	4633	MYL2	ORPHA:2020
HP:0000277	Abnormal mandible morphology	3679	ITGA7	ORPHA:2020
HP:0000277	Abnormal mandible morphology	9200	HACD1	ORPHA:2020
HP:0000277	Abnormal mandible morphology	7170	TPM3	ORPHA:2020
HP:0000277	Abnormal mandible morphology	7170	TPM3	ORPHA:171439
HP:0000277	Abnormal mandible morphology	51776	MAP3K20	ORPHA:2020
HP:0000277	Abnormal mandible morphology	3070	HELLS	ORPHA:2268
HP:0000277	Abnormal mandible morphology	83879	CDCA7	ORPHA:2268
HP:0000277	Abnormal mandible morphology	3265	HRAS	OMIM:218040
HP:0000277	Abnormal mandible morphology	5826	ABCD4	OMIM:614857
HP:0000277	Abnormal mandible morphology	26227	PHGDH	OMIM:256520
HP:0000277	Abnormal mandible morphology	2615	LRRC32	OMIM:619074
HP:0000277	Abnormal mandible morphology	5828	PEX2	OMIM:614866
HP:0000277	Abnormal mandible morphology	5828	PEX2	ORPHA:912
HP:0000277	Abnormal mandible morphology	6804	STX1A	ORPHA:904
HP:0000277	Abnormal mandible morphology	7461	CLIP2	ORPHA:904
HP:0000277	Abnormal mandible morphology	84277	DNAJC30	ORPHA:904
HP:0000277	Abnormal mandible morphology	8468	FKBP6	ORPHA:904
HP:0000277	Abnormal mandible morphology	5982	RFC2	ORPHA:904
HP:0000277	Abnormal mandible morphology	2969	GTF2I	ORPHA:904
HP:0000277	Abnormal mandible morphology	3984	LIMK1	ORPHA:904
HP:0000277	Abnormal mandible morphology	9569	GTF2IRD1	ORPHA:904
HP:0000277	Abnormal mandible morphology	155382	VPS37D	ORPHA:904
HP:0000277	Abnormal mandible morphology	155368	METTL27	ORPHA:904
HP:0000277	Abnormal mandible morphology	114049	BUD23	ORPHA:904
HP:0000277	Abnormal mandible morphology	7458	EIF4H	ORPHA:904
HP:0000277	Abnormal mandible morphology	84163	GTF2IRD2	ORPHA:904
HP:0000277	Abnormal mandible morphology	9275	BCL7B	ORPHA:904
HP:0000277	Abnormal mandible morphology	26608	TBL2	ORPHA:904
HP:0000277	Abnormal mandible morphology	653361	NCF1	ORPHA:904
HP:0000277	Abnormal mandible morphology	135886	TMEM270	ORPHA:904
HP:0000277	Abnormal mandible morphology	51085	MLXIPL	ORPHA:904
HP:0000277	Abnormal mandible morphology	9031	BAZ1B	ORPHA:904
HP:0000277	Abnormal mandible morphology	9289	ADGRG1	ORPHA:98889
HP:0000277	Abnormal mandible morphology	27286	SRPX2	ORPHA:98889
HP:0000277	Abnormal mandible morphology	157570	ESCO2	ORPHA:3103
HP:0000277	Abnormal mandible morphology	157570	ESCO2	OMIM:268300
HP:0000277	Abnormal mandible morphology	55027	HEATR3	OMIM:620072
HP:0000277	Abnormal mandible morphology	10236	HNRNPR	OMIM:620073
HP:0000277	Abnormal mandible morphology	51611	DPH5	OMIM:620070
HP:0000277	Abnormal mandible morphology	5700	PSMC1	OMIM:620071
HP:0000277	Abnormal mandible morphology	728294	D2HGDH	OMIM:600721
HP:0000277	Abnormal mandible morphology	6628	SNRPB	ORPHA:1393
HP:0000277	Abnormal mandible morphology	6628	SNRPB	OMIM:117650
HP:0000277	Abnormal mandible morphology	5594	MAPK1	OMIM:619087
HP:0000277	Abnormal mandible morphology	1028	CDKN1C	ORPHA:397590
HP:0000277	Abnormal mandible morphology	5324	PLAG1	ORPHA:397590
HP:0000277	Abnormal mandible morphology	2065	ERBB3	OMIM:607598
HP:0000277	Abnormal mandible morphology	81031	SLC2A10	OMIM:208050
HP:0000277	Abnormal mandible morphology	7140	TNNT3	ORPHA:1147
HP:0000277	Abnormal mandible morphology	8504	PEX3	OMIM:614882
HP:0000277	Abnormal mandible morphology	8504	PEX3	ORPHA:912
HP:0000277	Abnormal mandible morphology	84665	MYPN	ORPHA:171439
HP:0000277	Abnormal mandible morphology	390594	KBTBD13	ORPHA:171439
HP:0000277	Abnormal mandible morphology	50628	GEMIN4	OMIM:617913
HP:0000277	Abnormal mandible morphology	84570	COL25A1	ORPHA:1143
HP:0000277	Abnormal mandible morphology	57222	ERGIC1	ORPHA:1143
HP:0000277	Abnormal mandible morphology	5195	PEX14	OMIM:614887
HP:0000277	Abnormal mandible morphology	5195	PEX14	ORPHA:912
HP:0000277	Abnormal mandible morphology	4313	MMP2	OMIM:259600
HP:0000277	Abnormal mandible morphology	1297	COL9A1	ORPHA:250984
HP:0000277	Abnormal mandible morphology	1298	COL9A2	ORPHA:250984
HP:0000277	Abnormal mandible morphology	1299	COL9A3	ORPHA:250984
HP:0000277	Abnormal mandible morphology	84695	LOXL3	ORPHA:250984
HP:0000277	Abnormal mandible morphology	1144	CHRND	OMIM:253290
HP:0000277	Abnormal mandible morphology	55670	PEX26	ORPHA:912
HP:0000277	Abnormal mandible morphology	5824	PEX19	ORPHA:912
HP:0000277	Abnormal mandible morphology	8799	PEX11B	ORPHA:912
HP:0000277	Abnormal mandible morphology	9409	PEX16	ORPHA:912
HP:0000277	Abnormal mandible morphology	5190	PEX6	ORPHA:912
HP:0000277	Abnormal mandible morphology	5193	PEX12	ORPHA:912
HP:0000277	Abnormal mandible morphology	5194	PEX13	ORPHA:912
HP:0000277	Abnormal mandible morphology	5192	PEX10	ORPHA:912
HP:0000277	Abnormal mandible morphology	9780	PIEZO1	OMIM:616843
HP:0000277	Abnormal mandible morphology	85358	SHANK3	OMIM:606232
HP:0000277	Abnormal mandible morphology	91179	SCARF2	OMIM:600920
HP:0000277	Abnormal mandible morphology	113179	ADAT3	ORPHA:363528
HP:0000277	Abnormal mandible morphology	10525	HYOU1	OMIM:233600
HP:0000277	Abnormal mandible morphology	55784	MCTP2	ORPHA:1596
HP:0000277	Abnormal mandible morphology	30008	EFEMP2	OMIM:614437
HP:0000277	Abnormal mandible morphology	91869	RFT1	OMIM:612015
HP:0000277	Abnormal mandible morphology	5053	PAH	ORPHA:2209
HP:0000277	Abnormal mandible morphology	4297	KMT2A	OMIM:605130
HP:0000277	Abnormal mandible morphology	101929726	MYMX	ORPHA:1358
HP:0000277	Abnormal mandible morphology	101929726	MYMX	OMIM:619941
HP:0000277	Abnormal mandible morphology	4204	MECP2	OMIM:300055
HP:0000277	Abnormal mandible morphology	10265	IRX5	OMIM:611174
HP:0000277	Abnormal mandible morphology	5925	RB1	ORPHA:1587
HP:0000277	Abnormal mandible morphology	55603	TENT5A	OMIM:617952
HP:0000277	Abnormal mandible morphology	1063	CENPF	OMIM:243605
HP:0000277	Abnormal mandible morphology	2186	BPTF	ORPHA:529962
HP:0000277	Abnormal mandible morphology	2186	BPTF	OMIM:617755
HP:0000277	Abnormal mandible morphology	84342	COG8	OMIM:611182
HP:0000277	Abnormal mandible morphology	57572	DOCK6	OMIM:614219
HP:0000277	Abnormal mandible morphology	29980	DONSON	OMIM:251230
HP:0000277	Abnormal mandible morphology	23233	EXOC6B	ORPHA:93359
HP:0000277	Abnormal mandible morphology	4659	PPP1R12A	OMIM:618820
HP:0000277	Abnormal mandible morphology	91461	PKDCC	OMIM:618821
HP:0000277	Abnormal mandible morphology	285175	UNC80	ORPHA:371364
HP:0000277	Abnormal mandible morphology	8405	SPOP	OMIM:618829
HP:0000277	Abnormal mandible morphology	202018	TAPT1	OMIM:616897
HP:0000277	Abnormal mandible morphology	7291	TWIST1	OMIM:617746
HP:0000277	Abnormal mandible morphology	2767	GNA11	ORPHA:1556
HP:0000277	Abnormal mandible morphology	151188	ARL6IP6	ORPHA:1556
HP:0000277	Abnormal mandible morphology	440	ASNS	OMIM:615574
HP:0000277	Abnormal mandible morphology	55023	PHIP	OMIM:617991
HP:0000277	Abnormal mandible morphology	7476	WNT7A	ORPHA:2879
HP:0000277	Abnormal mandible morphology	4848	CNOT2	OMIM:618608
HP:0000277	Abnormal mandible morphology	23529	CLCF1	ORPHA:1545
HP:0000277	Abnormal mandible morphology	221927	BRAT1	OMIM:614498
HP:0000277	Abnormal mandible morphology	6736	SRY	ORPHA:1772
HP:0000277	Abnormal mandible morphology	5290	PIK3CA	OMIM:615108
HP:0000277	Abnormal mandible morphology	207	AKT1	OMIM:615109
HP:0000277	Abnormal mandible morphology	5604	MAP2K1	OMIM:163950
HP:0000277	Abnormal mandible morphology	3759	KCNJ2	OMIM:170390
HP:0000277	Abnormal mandible morphology	3166	HMX1	OMIM:612109
HP:0000277	Abnormal mandible morphology	9509	ADAMTS2	OMIM:225410
HP:0000277	Abnormal mandible morphology	2316	FLNA	OMIM:309350
HP:0000277	Abnormal mandible morphology	1513	CTSK	ORPHA:763
HP:0000277	Abnormal mandible morphology	4796	TONSL	ORPHA:93357
HP:0000277	Abnormal mandible morphology	1186	CLCN7	ORPHA:53
HP:0000277	Abnormal mandible morphology	1186	CLCN7	OMIM:166600
HP:0000277	Abnormal mandible morphology	8600	TNFSF11	OMIM:259710
HP:0000277	Abnormal mandible morphology	5332	PLCB4	OMIM:614669
HP:0000277	Abnormal mandible morphology	5332	PLCB4	ORPHA:137888
HP:0000277	Abnormal mandible morphology	2773	GNAI3	ORPHA:137888
HP:0000277	Abnormal mandible morphology	2773	GNAI3	OMIM:602483
HP:0000277	Abnormal mandible morphology	2261	FGFR3	ORPHA:85165
HP:0000277	Abnormal mandible morphology	2131	EXT1	ORPHA:502
HP:0000277	Abnormal mandible morphology	7227	TRPS1	ORPHA:502
HP:0000277	Abnormal mandible morphology	3664	IRF6	ORPHA:1300
HP:0000277	Abnormal mandible morphology	3664	IRF6	OMIM:119500
HP:0000277	Abnormal mandible morphology	5396	PRRX1	OMIM:202650
HP:0000277	Abnormal mandible morphology	5396	PRRX1	ORPHA:990
HP:0000277	Abnormal mandible morphology	5015	OTX2	ORPHA:990
HP:0000277	Abnormal mandible morphology	81620	CDT1	ORPHA:2554
HP:0000277	Abnormal mandible morphology	5000	ORC4	ORPHA:2554
HP:0000277	Abnormal mandible morphology	23594	ORC6	ORPHA:2554
HP:0000277	Abnormal mandible morphology	8318	CDC45	ORPHA:2554
HP:0000277	Abnormal mandible morphology	990	CDC6	ORPHA:2554
HP:0000277	Abnormal mandible morphology	4998	ORC1	ORPHA:2554
HP:0000277	Abnormal mandible morphology	51053	GMNN	ORPHA:2554
HP:0000277	Abnormal mandible morphology	56975	FAM20C	ORPHA:1832
HP:0000277	Abnormal mandible morphology	54539	NDUFB11	ORPHA:2556
HP:0000277	Abnormal mandible morphology	1349	COX7B	ORPHA:2556
HP:0000277	Abnormal mandible morphology	3052	HCCS	ORPHA:2556
HP:0000277	Abnormal mandible morphology	9775	EIF4A3	OMIM:268305
HP:0000277	Abnormal mandible morphology	1289	COL5A1	ORPHA:287
HP:0000277	Abnormal mandible morphology	1290	COL5A2	ORPHA:287
HP:0000277	Abnormal mandible morphology	6775	STAT4	ORPHA:85408
HP:0000277	Abnormal mandible morphology	3560	IL2RB	ORPHA:85408
HP:0000277	Abnormal mandible morphology	79722	ANKRD55	ORPHA:85408
HP:0000277	Abnormal mandible morphology	26191	PTPN22	ORPHA:85408
HP:0000277	Abnormal mandible morphology	919	CD247	ORPHA:85408
HP:0000277	Abnormal mandible morphology	3559	IL2RA	ORPHA:85408
HP:0000277	Abnormal mandible morphology	5771	PTPN2	ORPHA:85408
HP:0000277	Abnormal mandible morphology	3908	LAMA2	ORPHA:258
HP:0000277	Abnormal mandible morphology	3423	IDS	ORPHA:217085
HP:0000277	Abnormal mandible morphology	3423	IDS	ORPHA:217093
HP:0000277	Abnormal mandible morphology	23230	VPS13A	ORPHA:2388
HP:0000277	Abnormal mandible morphology	60482	SLC5A7	ORPHA:98914
HP:0000277	Abnormal mandible morphology	4649	MYO9A	ORPHA:98914
HP:0000277	Abnormal mandible morphology	1305	COL13A1	ORPHA:98914
HP:0000277	Abnormal mandible morphology	1103	CHAT	ORPHA:98914
HP:0000277	Abnormal mandible morphology	6576	SLC25A1	ORPHA:98914
HP:0000277	Abnormal mandible morphology	6843	VAMP1	ORPHA:98914
HP:0000277	Abnormal mandible morphology	375790	AGRN	ORPHA:98914
HP:0000277	Abnormal mandible morphology	127833	SYT2	ORPHA:98914
HP:0000277	Abnormal mandible morphology	6572	SLC18A3	ORPHA:98914
HP:0000277	Abnormal mandible morphology	6616	SNAP25	ORPHA:98914
HP:0000277	Abnormal mandible morphology	4654	MYOD1	OMIM:618975
HP:0000277	Abnormal mandible morphology	8812	CCNK	OMIM:618147
HP:0000277	Abnormal mandible morphology	64324	NSD1	OMIM:117550
HP:0000277	Abnormal mandible morphology	203859	ANO5	ORPHA:53697
HP:0000277	Abnormal mandible morphology	6452	SH3BP2	ORPHA:184
HP:0000277	Abnormal mandible morphology	79753	SNIP1	OMIM:614501
HP:0000277	Abnormal mandible morphology	83550	GPR101	ORPHA:963
HP:0000277	Abnormal mandible morphology	9049	AIP	ORPHA:963
HP:0000277	Abnormal mandible morphology	4041	LRP5	ORPHA:178377
HP:0000277	Abnormal mandible morphology	8815	BANF1	OMIM:614008
HP:0000277	Abnormal mandible morphology	26137	ZBTB20	OMIM:259050
HP:0000277	Abnormal mandible morphology	3845	KRAS	OMIM:600268
HP:0000277	Abnormal mandible morphology	79577	CDC73	ORPHA:143
HP:0000277	Abnormal mandible morphology	79577	CDC73	ORPHA:99880
HP:0000277	Abnormal mandible morphology	6335	SCN9A	OMIM:167400
HP:0030854	Scleral staphyloma	27183	VPS4A	OMIM:619273
HP:0030854	Scleral staphyloma	5076	PAX2	OMIM:120330
HP:0030854	Scleral staphyloma	755	CFAP410	OMIM:617547
HP:0030854	Scleral staphyloma	3030	HADHA	ORPHA:5
HP:0030854	Scleral staphyloma	7439	BEST1	OMIM:193220
HP:0030854	Scleral staphyloma	402	ARL2	OMIM:619082
HP:0030854	Scleral staphyloma	4157	MC1R	ORPHA:79432
HP:0030854	Scleral staphyloma	4948	OCA2	ORPHA:79432
HP:0030854	Scleral staphyloma	50939	IMPG2	OMIM:613581
HP:0030854	Scleral staphyloma	51604	PIGT	ORPHA:369837
HP:0030858	Addictive behavior	3064	HTT	ORPHA:399
HP:0030858	Addictive behavior	6515	SLC2A3	ORPHA:399
HP:0030858	Addictive behavior	6774	STAT3	ORPHA:520
HP:0030858	Addictive behavior	5371	PML	ORPHA:520
HP:0030858	Addictive behavior	5914	RARA	ORPHA:520
HP:0030858	Addictive behavior	359948	IRF2BP2	ORPHA:520
HP:0030858	Addictive behavior	81608	FIP1L1	ORPHA:520
HP:0030858	Addictive behavior	4869	NPM1	ORPHA:520
HP:0030858	Addictive behavior	5573	PRKAR1A	ORPHA:520
HP:0030858	Addictive behavior	54880	BCOR	ORPHA:520
HP:0030858	Addictive behavior	64859	NABP1	ORPHA:520
HP:0030858	Addictive behavior	6777	STAT5B	ORPHA:520
HP:0030858	Addictive behavior	4926	NUMA1	ORPHA:520
HP:0030858	Addictive behavior	7704	ZBTB16	ORPHA:520
HP:0030858	Addictive behavior	79718	TBL1XR1	ORPHA:520
HP:0030858	Addictive behavior	8910	SGCE	OMIM:159900
HP:0030858	Addictive behavior	23592	LEMD3	ORPHA:166119
HP:0030858	Addictive behavior	50833	TAS2R16	OMIM:103780
HP:0030858	Addictive behavior	3356	HTR2A	OMIM:103780
HP:0030858	Addictive behavior	125	ADH1B	OMIM:103780
HP:0030858	Addictive behavior	126	ADH1C	OMIM:103780
HP:0030858	Addictive behavior	2555	GABRA2	OMIM:103780
HP:0030858	Addictive behavior	7187	TRAF3	ORPHA:1930
HP:0030858	Addictive behavior	81622	UNC93B1	ORPHA:1930
HP:0030858	Addictive behavior	148022	TICAM1	ORPHA:1930
HP:0030858	Addictive behavior	7098	TLR3	ORPHA:1930
HP:0030858	Addictive behavior	29110	TBK1	ORPHA:1930
HP:0030857	Eye movement-induced pain	6935	ZEB1	ORPHA:98974
HP:0030857	Eye movement-induced pain	123624	AGBL1	ORPHA:98974
HP:0030857	Eye movement-induced pain	6925	TCF4	ORPHA:98974
HP:0030857	Eye movement-induced pain	83959	SLC4A11	ORPHA:98974
HP:0030857	Eye movement-induced pain	1296	COL8A2	ORPHA:98974
HP:0030856	Posterior staphyloma	755	CFAP410	OMIM:617547
HP:0030856	Posterior staphyloma	3030	HADHA	ORPHA:5
HP:0030856	Posterior staphyloma	7439	BEST1	OMIM:193220
HP:0030856	Posterior staphyloma	402	ARL2	OMIM:619082
HP:0030856	Posterior staphyloma	4157	MC1R	ORPHA:79432
HP:0030856	Posterior staphyloma	4948	OCA2	ORPHA:79432
HP:0030856	Posterior staphyloma	50939	IMPG2	OMIM:613581
HP:0030856	Posterior staphyloma	51604	PIGT	ORPHA:369837
HP:0030863	Nasal flaring	6440	SFTPC	ORPHA:70587
HP:0030863	Nasal flaring	21	ABCA3	ORPHA:70587
HP:0030863	Nasal flaring	6439	SFTPB	ORPHA:70587
HP:0000211	Trismus	7169	TPM2	OMIM:108120
HP:0000211	Trismus	4626	MYH8	OMIM:158300
HP:0000211	Trismus	4626	MYH8	OMIM:608837
HP:0000211	Trismus	10262	SF3B4	OMIM:154400
HP:0000211	Trismus	1280	COL2A1	OMIM:616583
HP:0000211	Trismus	3977	LIFR	ORPHA:3206
HP:0000211	Trismus	3747	KCNC2	OMIM:619913
HP:0000211	Trismus	1909	EDNRA	OMIM:616367
HP:0000211	Trismus	3339	HSPG2	ORPHA:800
HP:0000211	Trismus	2629	GBA1	OMIM:230900
HP:0000211	Trismus	81570	CLPB	OMIM:616271
HP:0000211	Trismus	9244	CRLF1	OMIM:272430
HP:0000211	Trismus	389827	MYMK	OMIM:254940
HP:0000211	Trismus	112476	PRRT2	ORPHA:98810
HP:0000211	Trismus	25953	PNKD	ORPHA:98810
HP:0000233	Thin vermilion border	158	ADSL	OMIM:103050
HP:0000233	Thin vermilion border	158	ADSL	ORPHA:46
HP:0000233	Thin vermilion border	11253	MAN1B1	ORPHA:397941
HP:0000233	Thin vermilion border	11253	MAN1B1	OMIM:614202
HP:0000233	Thin vermilion border	8367	H4C5	OMIM:619950
HP:0000233	Thin vermilion border	104	ADARB1	OMIM:618862
HP:0000233	Thin vermilion border	23241	PACS2	OMIM:618067
HP:0000233	Thin vermilion border	84282	RNF135	ORPHA:137634
HP:0000233	Thin vermilion border	3703	STT3A	OMIM:619714
HP:0000233	Thin vermilion border	4774	NFIA	OMIM:613735
HP:0000233	Thin vermilion border	10060	ABCC9	OMIM:619719
HP:0000233	Thin vermilion border	55209	SETD5	ORPHA:404440
HP:0000233	Thin vermilion border	55209	SETD5	OMIM:615761
HP:0000233	Thin vermilion border	1836	SLC26A2	ORPHA:56304
HP:0000233	Thin vermilion border	4983	OPHN1	OMIM:300486
HP:0000233	Thin vermilion border	10743	RAI1	ORPHA:477817
HP:0000233	Thin vermilion border	4281	MID1	OMIM:300000
HP:0000233	Thin vermilion border	116931	MED12L	OMIM:618872
HP:0000233	Thin vermilion border	9578	CDC42BPB	OMIM:619841
HP:0000233	Thin vermilion border	613	BCR	ORPHA:261330
HP:0000233	Thin vermilion border	1399	CRKL	ORPHA:261330
HP:0000233	Thin vermilion border	5594	MAPK1	ORPHA:261330
HP:0000233	Thin vermilion border	10300	KATNB1	OMIM:616212
HP:0000233	Thin vermilion border	80816	ASXL3	OMIM:615485
HP:0000233	Thin vermilion border	1855	DVL1	OMIM:616331
HP:0000233	Thin vermilion border	1855	DVL1	OMIM:180700
HP:0000233	Thin vermilion border	283489	CHAMP1	OMIM:616579
HP:0000233	Thin vermilion border	10026	PIGK	OMIM:618879
HP:0000233	Thin vermilion border	55690	PACS1	OMIM:615009
HP:0000233	Thin vermilion border	55690	PACS1	ORPHA:329224
HP:0000233	Thin vermilion border	55788	LMBRD1	OMIM:277380
HP:0000233	Thin vermilion border	28960	DCPS	OMIM:616459
HP:0000233	Thin vermilion border	10978	CLP1	OMIM:615803
HP:0000233	Thin vermilion border	9382	COG1	OMIM:611209
HP:0000233	Thin vermilion border	9382	COG1	ORPHA:263508
HP:0000233	Thin vermilion border	55650	PIGV	OMIM:239300
HP:0000233	Thin vermilion border	1185	CLCN6	OMIM:619173
HP:0000233	Thin vermilion border	56992	KIF15	ORPHA:261323
HP:0000233	Thin vermilion border	170302	ARX	OMIM:300215
HP:0000233	Thin vermilion border	57492	ARID1B	OMIM:135900
HP:0000233	Thin vermilion border	57492	ARID1B	ORPHA:1465
HP:0000233	Thin vermilion border	3899	AFF3	OMIM:619297
HP:0000233	Thin vermilion border	113189	CHST14	ORPHA:2953
HP:0000233	Thin vermilion border	113189	CHST14	OMIM:601776
HP:0000233	Thin vermilion border	29940	DSE	ORPHA:2953
HP:0000233	Thin vermilion border	7994	KAT6A	ORPHA:457193
HP:0000233	Thin vermilion border	7994	KAT6A	OMIM:616268
HP:0000233	Thin vermilion border	2770	GNAI1	OMIM:619854
HP:0000233	Thin vermilion border	23325	WASHC4	OMIM:615817
HP:0000233	Thin vermilion border	8546	AP3B1	OMIM:608233
HP:0000233	Thin vermilion border	6597	SMARCA4	OMIM:614609
HP:0000233	Thin vermilion border	6597	SMARCA4	ORPHA:1465
HP:0000233	Thin vermilion border	79087	ALG12	OMIM:607143
HP:0000233	Thin vermilion border	79087	ALG12	ORPHA:79324
HP:0000233	Thin vermilion border	6872	TAF1	ORPHA:480907
HP:0000233	Thin vermilion border	6872	TAF1	OMIM:300966
HP:0000233	Thin vermilion border	64919	BCL11B	OMIM:618092
HP:0000233	Thin vermilion border	51651	PTRH2	ORPHA:456312
HP:0000233	Thin vermilion border	51651	PTRH2	OMIM:616263
HP:0000233	Thin vermilion border	4212	MEIS2	OMIM:600987
HP:0000233	Thin vermilion border	4297	KMT2A	ORPHA:319182
HP:0000233	Thin vermilion border	4297	KMT2A	OMIM:605130
HP:0000233	Thin vermilion border	23036	ZNF292	OMIM:619188
HP:0000233	Thin vermilion border	54872	PIGG	ORPHA:488635
HP:0000233	Thin vermilion border	5813	PURA	ORPHA:438216
HP:0000233	Thin vermilion border	10352	WARS2	ORPHA:572798
HP:0000233	Thin vermilion border	2783	GNB2	OMIM:619503
HP:0000233	Thin vermilion border	26057	ANKRD17	OMIM:619504
HP:0000233	Thin vermilion border	55623	THUMPD1	OMIM:619989
HP:0000233	Thin vermilion border	25942	SIN3A	OMIM:613406
HP:0000233	Thin vermilion border	5373	PMM2	OMIM:212065
HP:0000233	Thin vermilion border	5373	PMM2	ORPHA:79318
HP:0000233	Thin vermilion border	1499	CTNNB1	ORPHA:404473
HP:0000233	Thin vermilion border	1499	CTNNB1	OMIM:615075
HP:0000233	Thin vermilion border	699	BUB1	OMIM:620183
HP:0000233	Thin vermilion border	4953	ODC1	OMIM:619075
HP:0000233	Thin vermilion border	253738	EBF3	OMIM:617330
HP:0000233	Thin vermilion border	8493	PPM1D	OMIM:617450
HP:0000233	Thin vermilion border	29081	METTL5	OMIM:618665
HP:0000233	Thin vermilion border	29081	METTL5	ORPHA:2512
HP:0000233	Thin vermilion border	2200	FBN1	OMIM:614185
HP:0000233	Thin vermilion border	8558	CDK10	OMIM:617694
HP:0000233	Thin vermilion border	5063	PAK3	OMIM:300558
HP:0000233	Thin vermilion border	51633	OTUD6B	OMIM:617452
HP:0000233	Thin vermilion border	51633	OTUD6B	ORPHA:505237
HP:0000233	Thin vermilion border	51660	MPC1	OMIM:614741
HP:0000233	Thin vermilion border	1182	CLCN3	OMIM:619517
HP:0000233	Thin vermilion border	8239	USP9X	ORPHA:480880
HP:0000233	Thin vermilion border	116115	ZNF526	OMIM:619877
HP:0000233	Thin vermilion border	285175	UNC80	OMIM:616801
HP:0000233	Thin vermilion border	285175	UNC80	ORPHA:371364
HP:0000233	Thin vermilion border	3098	HK1	OMIM:618547
HP:0000233	Thin vermilion border	9091	PIGQ	OMIM:618548
HP:0000233	Thin vermilion border	6134	RPL10	ORPHA:459070
HP:0000233	Thin vermilion border	6134	RPL10	OMIM:300998
HP:0000233	Thin vermilion border	6134	RPL10	ORPHA:435938
HP:0000233	Thin vermilion border	93210	PGAP3	OMIM:615716
HP:0000233	Thin vermilion border	8085	KMT2D	OMIM:620186
HP:0000233	Thin vermilion border	79796	ALG9	ORPHA:79328
HP:0000233	Thin vermilion border	283209	PGM2L1	OMIM:620191
HP:0000233	Thin vermilion border	57459	GATAD2B	ORPHA:363686
HP:0000233	Thin vermilion border	57459	GATAD2B	OMIM:615074
HP:0000233	Thin vermilion border	4094	MAF	ORPHA:1272
HP:0000233	Thin vermilion border	4094	MAF	OMIM:601088
HP:0000233	Thin vermilion border	8818	DPM2	OMIM:615042
HP:0000233	Thin vermilion border	8818	DPM2	ORPHA:329178
HP:0000233	Thin vermilion border	53335	BCL11A	OMIM:617101
HP:0000233	Thin vermilion border	6942	TCF20	OMIM:618430
HP:0000233	Thin vermilion border	92002	CCNQ	ORPHA:140952
HP:0000233	Thin vermilion border	92002	CCNQ	OMIM:300707
HP:0000233	Thin vermilion border	81887	LAS1L	ORPHA:3459
HP:0000233	Thin vermilion border	5591	PRKDC	OMIM:615966
HP:0000233	Thin vermilion border	9772	TMEM94	OMIM:618316
HP:0000233	Thin vermilion border	6605	SMARCE1	OMIM:616938
HP:0000233	Thin vermilion border	6605	SMARCE1	ORPHA:1465
HP:0000233	Thin vermilion border	471	ATIC	OMIM:608688
HP:0000233	Thin vermilion border	471	ATIC	ORPHA:250977
HP:0000233	Thin vermilion border	2683	B4GALT1	ORPHA:79332
HP:0000233	Thin vermilion border	10430	TMEM147	OMIM:620075
HP:0000233	Thin vermilion border	4920	ROR2	OMIM:268310
HP:0000233	Thin vermilion border	8242	KDM5C	OMIM:300534
HP:0000233	Thin vermilion border	23162	MAPK8IP3	OMIM:618443
HP:0000233	Thin vermilion border	546	ATRX	OMIM:309580
HP:0000233	Thin vermilion border	51322	WAC	OMIM:616708
HP:0000233	Thin vermilion border	51322	WAC	ORPHA:466950
HP:0000233	Thin vermilion border	6513	SLC2A1	ORPHA:1942
HP:0000233	Thin vermilion border	1173	AP2M1	ORPHA:1942
HP:0000233	Thin vermilion border	1173	AP2M1	OMIM:618587
HP:0000233	Thin vermilion border	6323	SCN1A	ORPHA:1942
HP:0000233	Thin vermilion border	1106	CHD2	ORPHA:1942
HP:0000233	Thin vermilion border	6529	SLC6A1	ORPHA:1942
HP:0000233	Thin vermilion border	1387	CREBBP	OMIM:618332
HP:0000233	Thin vermilion border	1387	CREBBP	OMIM:180849
HP:0000233	Thin vermilion border	2033	EP300	OMIM:618333
HP:0000233	Thin vermilion border	2033	EP300	OMIM:180849
HP:0000233	Thin vermilion border	8295	TRRAP	OMIM:618454
HP:0000233	Thin vermilion border	54903	MKS1	OMIM:249000
HP:0000233	Thin vermilion border	1523	CUX1	OMIM:618330
HP:0000233	Thin vermilion border	84188	FAR1	OMIM:616154
HP:0000233	Thin vermilion border	84188	FAR1	ORPHA:438178
HP:0000233	Thin vermilion border	4208	MEF2C	OMIM:613443
HP:0000233	Thin vermilion border	6878	TAF6	OMIM:617126
HP:0000233	Thin vermilion border	7227	TRPS1	OMIM:190350
HP:0000233	Thin vermilion border	7227	TRPS1	OMIM:190351
HP:0000233	Thin vermilion border	7227	TRPS1	ORPHA:502
HP:0000233	Thin vermilion border	1642	DDB1	OMIM:619426
HP:0000233	Thin vermilion border	55770	EXOC2	OMIM:619306
HP:0000233	Thin vermilion border	6857	SYT1	OMIM:618218
HP:0000233	Thin vermilion border	6857	SYT1	ORPHA:522077
HP:0000233	Thin vermilion border	10075	HUWE1	OMIM:309590
HP:0000233	Thin vermilion border	22827	PUF60	ORPHA:508498
HP:0000233	Thin vermilion border	22827	PUF60	ORPHA:508488
HP:0000233	Thin vermilion border	22827	PUF60	OMIM:615583
HP:0000233	Thin vermilion border	5898	RALA	OMIM:619311
HP:0000233	Thin vermilion border	23013	SPEN	OMIM:619312
HP:0000233	Thin vermilion border	8473	OGT	OMIM:300997
HP:0000233	Thin vermilion border	2290	FOXG1	OMIM:613454
HP:0000233	Thin vermilion border	29123	ANKRD11	ORPHA:2332
HP:0000233	Thin vermilion border	55628	ZNF407	OMIM:619557
HP:0000233	Thin vermilion border	100151683	RNU4ATAC	ORPHA:353298
HP:0000233	Thin vermilion border	100151683	RNU4ATAC	OMIM:616651
HP:0000233	Thin vermilion border	23028	KDM1A	OMIM:616728
HP:0000233	Thin vermilion border	23028	KDM1A	ORPHA:477993
HP:0000233	Thin vermilion border	7681	MKRN3	OMIM:176270
HP:0000233	Thin vermilion border	3653	IPW	OMIM:176270
HP:0000233	Thin vermilion border	54551	MAGEL2	OMIM:176270
HP:0000233	Thin vermilion border	54551	MAGEL2	ORPHA:177901
HP:0000233	Thin vermilion border	54551	MAGEL2	ORPHA:398069
HP:0000233	Thin vermilion border	791114	PWRN1	OMIM:176270
HP:0000233	Thin vermilion border	100033413	SNORD116-1	OMIM:176270
HP:0000233	Thin vermilion border	8924	HERC2	OMIM:176270
HP:0000233	Thin vermilion border	145624	PWAR1	OMIM:176270
HP:0000233	Thin vermilion border	23742	NPAP1	OMIM:176270
HP:0000233	Thin vermilion border	338433	SNORD115-1	OMIM:176270
HP:0000233	Thin vermilion border	128869	PIGU	OMIM:618590
HP:0000233	Thin vermilion border	27125	AFF4	ORPHA:444077
HP:0000233	Thin vermilion border	5575	PRKAR1B	OMIM:619680
HP:0000233	Thin vermilion border	57465	TBC1D24	OMIM:220500
HP:0000233	Thin vermilion border	57465	TBC1D24	ORPHA:79500
HP:0000233	Thin vermilion border	10847	SRCAP	OMIM:136140
HP:0000233	Thin vermilion border	10847	SRCAP	OMIM:619595
HP:0000233	Thin vermilion border	63895	PIEZO2	OMIM:617146
HP:0000233	Thin vermilion border	83479	DDX59	OMIM:174300
HP:0000233	Thin vermilion border	6492	SIM1	ORPHA:398079
HP:0000233	Thin vermilion border	55784	MCTP2	ORPHA:1596
HP:0000233	Thin vermilion border	169792	GLIS3	OMIM:610199
HP:0000233	Thin vermilion border	998	CDC42	OMIM:616737
HP:0000233	Thin vermilion border	998	CDC42	ORPHA:487796
HP:0000233	Thin vermilion border	3097	HIVEP2	OMIM:616977
HP:0000233	Thin vermilion border	10982	MAPRE2	OMIM:616734
HP:0000233	Thin vermilion border	4952	OCRL	ORPHA:534
HP:0000233	Thin vermilion border	84679	SLC9A7	OMIM:301024
HP:0000233	Thin vermilion border	64135	IFIH1	OMIM:182250
HP:0000233	Thin vermilion border	1725	DHPS	OMIM:618480
HP:0000233	Thin vermilion border	16	AARS1	OMIM:619691
HP:0000233	Thin vermilion border	55777	MBD5	OMIM:156200
HP:0000233	Thin vermilion border	6638	SNRPN	ORPHA:177901
HP:0000233	Thin vermilion border	6638	SNRPN	ORPHA:177907
HP:0000233	Thin vermilion border	4692	NDN	ORPHA:177901
HP:0000233	Thin vermilion border	4948	OCA2	ORPHA:177901
HP:0000233	Thin vermilion border	10735	STAG2	OMIM:301022
HP:0000233	Thin vermilion border	23221	RHOBTB2	OMIM:618004
HP:0000233	Thin vermilion border	6601	SMARCC2	OMIM:618362
HP:0000233	Thin vermilion border	6601	SMARCC2	ORPHA:1465
HP:0000233	Thin vermilion border	10265	IRX5	OMIM:611174
HP:0000233	Thin vermilion border	6598	SMARCB1	ORPHA:1465
HP:0000233	Thin vermilion border	6659	SOX4	ORPHA:1465
HP:0000233	Thin vermilion border	8289	ARID1A	ORPHA:1465
HP:0000233	Thin vermilion border	5977	DPF2	ORPHA:1465
HP:0000233	Thin vermilion border	5977	DPF2	OMIM:618027
HP:0000233	Thin vermilion border	6602	SMARCD1	ORPHA:1465
HP:0000233	Thin vermilion border	196528	ARID2	ORPHA:1465
HP:0000233	Thin vermilion border	6664	SOX11	ORPHA:1465
HP:0000233	Thin vermilion border	57211	ADGRG6	OMIM:616503
HP:0000233	Thin vermilion border	9969	MED13	OMIM:618009
HP:0000233	Thin vermilion border	5308	PITX2	OMIM:180500
HP:0000233	Thin vermilion border	259232	NALCN	OMIM:615419
HP:0000233	Thin vermilion border	259232	NALCN	ORPHA:371364
HP:0000233	Thin vermilion border	3759	KCNJ2	OMIM:170390
HP:0000233	Thin vermilion border	3759	KCNJ2	ORPHA:37553
HP:0000233	Thin vermilion border	1000	CDH2	OMIM:618929
HP:0000233	Thin vermilion border	9241	NOG	OMIM:186500
HP:0000233	Thin vermilion border	7703	PCGF2	OMIM:618371
HP:0000233	Thin vermilion border	23522	KAT6B	OMIM:603736
HP:0000233	Thin vermilion border	5718	PSMD12	ORPHA:529962
HP:0000233	Thin vermilion border	2186	BPTF	ORPHA:529962
HP:0000233	Thin vermilion border	2186	BPTF	OMIM:617755
HP:0000233	Thin vermilion border	1822	ATN1	OMIM:618494
HP:0000233	Thin vermilion border	26040	SETBP1	OMIM:616078
HP:0000233	Thin vermilion border	5144	PDE4D	ORPHA:439822
HP:0000233	Thin vermilion border	83696	TRAPPC9	ORPHA:352530
HP:0000233	Thin vermilion border	2475	MTOR	OMIM:616638
HP:0000233	Thin vermilion border	50801	KCNK4	OMIM:618381
HP:0000233	Thin vermilion border	11212	PLPBP	OMIM:617290
HP:0000233	Thin vermilion border	8812	CCNK	OMIM:618147
HP:0000233	Thin vermilion border	6711	SPTBN1	OMIM:619475
HP:0000233	Thin vermilion border	10815	CPLX1	OMIM:617976
HP:0000233	Thin vermilion border	1213	CLTC	OMIM:617854
HP:0000233	Thin vermilion border	1859	DYRK1A	OMIM:614104
HP:0000233	Thin vermilion border	29957	SLC25A24	OMIM:612289
HP:0000233	Thin vermilion border	526	ATP6V1B2	ORPHA:79500
HP:0000233	Thin vermilion border	2131	EXT1	ORPHA:502
HP:0000233	Thin vermilion border	63932	STEEP1	OMIM:301013
HP:0000233	Thin vermilion border	1457	CSNK2A1	OMIM:617062
HP:0000233	Thin vermilion border	7204	TRIO	OMIM:617061
HP:0000233	Thin vermilion border	2571	GAD1	OMIM:619124
HP:0000233	Thin vermilion border	285590	SH3PXD2B	OMIM:249420
HP:0000233	Thin vermilion border	55617	TASP1	OMIM:618950
HP:0000233	Thin vermilion border	54870	QRICH1	OMIM:617982
HP:0000233	Thin vermilion border	6472	SHMT2	OMIM:619121
HP:0000233	Thin vermilion border	23112	TNRC6B	OMIM:619243
HP:0000233	Thin vermilion border	91875	TTC5	OMIM:619244
HP:0000233	Thin vermilion border	112752	IFT43	OMIM:617866
HP:0000233	Thin vermilion border	93587	TRMT10A	ORPHA:391408
HP:0000233	Thin vermilion border	84919	PPP1R15B	ORPHA:391408
HP:0000233	Thin vermilion border	10551	AGR2	OMIM:620233
HP:0000233	Thin vermilion border	55252	ASXL2	OMIM:617190
HP:0000233	Thin vermilion border	80267	EDEM3	OMIM:619493
HP:0000233	Thin vermilion border	4841	NONO	ORPHA:466791
HP:0000233	Thin vermilion border	10084	PQBP1	OMIM:309500
HP:0000233	Thin vermilion border	57020	VPS35L	OMIM:619135
HP:0000233	Thin vermilion border	9320	TRIP12	OMIM:617752
HP:0000233	Thin vermilion border	10020	GNE	OMIM:269921
HP:0000233	Thin vermilion border	10020	GNE	ORPHA:3166
HP:0000233	Thin vermilion border	5528	PPP2R5D	ORPHA:457279
HP:0000233	Thin vermilion border	1984	EIF5A	OMIM:619376
HP:0000233	Thin vermilion border	650	BMP2	OMIM:617877
HP:0000233	Thin vermilion border	51780	KDM3B	OMIM:618846
HP:0000233	Thin vermilion border	3664	IRF6	ORPHA:1300
HP:0000233	Thin vermilion border	738	VPS51	OMIM:618606
HP:0000233	Thin vermilion border	84700	MYO18B	OMIM:616549
HP:0000233	Thin vermilion border	3778	KCNMA1	OMIM:618729
HP:0000233	Thin vermilion border	4848	CNOT2	OMIM:618608
HP:0000233	Thin vermilion border	10079	ATP9A	OMIM:620242
HP:0000233	Thin vermilion border	7474	WNT5A	OMIM:180700
HP:0000233	Thin vermilion border	9276	COPB2	ORPHA:2512
HP:0000233	Thin vermilion border	11113	CIT	ORPHA:2512
HP:0000233	Thin vermilion border	9928	KIF14	ORPHA:2512
HP:0000233	Thin vermilion border	22995	CEP152	ORPHA:2512
HP:0000233	Thin vermilion border	284403	WDR62	ORPHA:2512
HP:0000233	Thin vermilion border	55262	TRAPPC14	ORPHA:2512
HP:0000233	Thin vermilion border	163786	SASS6	ORPHA:2512
HP:0000233	Thin vermilion border	84879	MFSD2A	ORPHA:2512
HP:0000233	Thin vermilion border	4176	MCM7	ORPHA:2512
HP:0000233	Thin vermilion border	80254	CEP63	ORPHA:2512
HP:0000233	Thin vermilion border	23310	NCAPD3	ORPHA:2512
HP:0000233	Thin vermilion border	55755	CDK5RAP2	ORPHA:2512
HP:0000233	Thin vermilion border	79648	MCPH1	ORPHA:2512
HP:0000233	Thin vermilion border	6491	STIL	ORPHA:2512
HP:0000233	Thin vermilion border	23141	ANKLE2	ORPHA:2512
HP:0000233	Thin vermilion border	259266	ASPM	ORPHA:2512
HP:0000233	Thin vermilion border	7109	TRAPPC10	ORPHA:2512
HP:0000233	Thin vermilion border	1911	PHC1	ORPHA:2512
HP:0000233	Thin vermilion border	6884	TAF13	ORPHA:2512
HP:0000233	Thin vermilion border	9662	CEP135	ORPHA:2512
HP:0000233	Thin vermilion border	55835	CENPJ	ORPHA:2512
HP:0000233	Thin vermilion border	57082	KNL1	ORPHA:2512
HP:0000233	Thin vermilion border	1021	CDK6	ORPHA:2512
HP:0000233	Thin vermilion border	11011	TLK2	OMIM:618050
HP:0000233	Thin vermilion border	27161	AGO2	OMIM:619149
HP:0000233	Thin vermilion border	23404	EXOSC2	OMIM:617763
HP:0000233	Thin vermilion border	3832	KIF11	OMIM:152950
HP:0000233	Thin vermilion border	5087	PBX1	OMIM:617641
HP:0000233	Thin vermilion border	10844	TUBGCP2	OMIM:618737
HP:0000233	Thin vermilion border	9181	ARHGEF2	OMIM:617523
HP:0000233	Thin vermilion border	3762	KCNJ5	ORPHA:37553
HP:0000233	Thin vermilion border	3480	IGF1R	ORPHA:73273
HP:0000233	Thin vermilion border	65992	DDRGK1	OMIM:602557
HP:0000233	Thin vermilion border	1281	COL3A1	OMIM:618343
HP:0000233	Thin vermilion border	1281	COL3A1	OMIM:130050
HP:0000233	Thin vermilion border	1281	COL3A1	ORPHA:286
HP:0000233	Thin vermilion border	340533	NEXMIF	OMIM:300912
HP:0000233	Thin vermilion border	50651	SLC45A1	OMIM:617532
HP:0000233	Thin vermilion border	10765	KDM5B	OMIM:618109
HP:0000233	Thin vermilion border	23394	ADNP	OMIM:615873
HP:0000233	Thin vermilion border	6228	RPS23	OMIM:617412
HP:0000233	Thin vermilion border	5885	RAD21	OMIM:614701
HP:0000233	Thin vermilion border	5885	RAD21	ORPHA:199
HP:0000233	Thin vermilion border	9759	HDAC4	ORPHA:1001
HP:0000233	Thin vermilion border	775	CACNA1C	OMIM:620029
HP:0000233	Thin vermilion border	55627	SMPD4	OMIM:618622
HP:0000233	Thin vermilion border	1788	DNMT3A	OMIM:615879
HP:0000233	Thin vermilion border	9526	MPDU1	OMIM:609180
HP:0000233	Thin vermilion border	9526	MPDU1	ORPHA:79323
HP:0000233	Thin vermilion border	7518	XRCC4	ORPHA:99812
HP:0000233	Thin vermilion border	3981	LIG4	ORPHA:99812
HP:0000233	Thin vermilion border	2702	GJA5	ORPHA:3303
HP:0000233	Thin vermilion border	2702	GJA5	OMIM:612474
HP:0000233	Thin vermilion border	1482	NKX2-5	ORPHA:3303
HP:0000233	Thin vermilion border	137814	NKX2-6	ORPHA:3303
HP:0000233	Thin vermilion border	23414	ZFPM2	ORPHA:3303
HP:0000233	Thin vermilion border	2626	GATA4	ORPHA:3303
HP:0000233	Thin vermilion border	2626	GATA4	ORPHA:251071
HP:0000233	Thin vermilion border	3791	KDR	ORPHA:3303
HP:0000233	Thin vermilion border	2627	GATA6	ORPHA:3303
HP:0000233	Thin vermilion border	2657	GDF1	ORPHA:3303
HP:0000233	Thin vermilion border	182	JAG1	ORPHA:3303
HP:0000233	Thin vermilion border	6899	TBX1	ORPHA:3303
HP:0000233	Thin vermilion border	140628	GATA5	ORPHA:3303
HP:0000233	Thin vermilion border	2324	FLT4	ORPHA:3303
HP:0000233	Thin vermilion border	10370	CITED2	ORPHA:3303
HP:0000233	Thin vermilion border	55869	HDAC8	OMIM:300882
HP:0000233	Thin vermilion border	55869	HDAC8	ORPHA:199
HP:0000233	Thin vermilion border	374654	KIF7	OMIM:200990
HP:0000233	Thin vermilion border	6651	SON	OMIM:617140
HP:0000233	Thin vermilion border	6651	SON	ORPHA:500150
HP:0000233	Thin vermilion border	4010	LMX1B	ORPHA:495818
HP:0000233	Thin vermilion border	6812	STXBP1	ORPHA:495818
HP:0000233	Thin vermilion border	23314	SATB2	ORPHA:251019
HP:0000233	Thin vermilion border	6905	TBCE	ORPHA:2323
HP:0000233	Thin vermilion border	6905	TBCE	OMIM:241410
HP:0000233	Thin vermilion border	5831	PYCR1	OMIM:614438
HP:0000233	Thin vermilion border	23384	SPECC1L	ORPHA:1519
HP:0000233	Thin vermilion border	150468	CKAP2L	ORPHA:3255
HP:0000233	Thin vermilion border	150468	CKAP2L	OMIM:272440
HP:0000233	Thin vermilion border	10472	ZBTB18	ORPHA:36367
HP:0000233	Thin vermilion border	9126	SMC3	OMIM:610759
HP:0000233	Thin vermilion border	9126	SMC3	ORPHA:199
HP:0000233	Thin vermilion border	389827	MYMK	ORPHA:1358
HP:0000233	Thin vermilion border	101929726	MYMX	ORPHA:1358
HP:0000233	Thin vermilion border	79068	FTO	OMIM:612938
HP:0000233	Thin vermilion border	3417	IDH1	ORPHA:99646
HP:0000233	Thin vermilion border	90161	HS6ST2	OMIM:301025
HP:0000233	Thin vermilion border	22930	RAB3GAP1	OMIM:600118
HP:0000233	Thin vermilion border	10484	SEC23A	ORPHA:50814
HP:0000233	Thin vermilion border	54496	PRMT7	OMIM:617157
HP:0000233	Thin vermilion border	54496	PRMT7	ORPHA:464288
HP:0000233	Thin vermilion border	8831	SYNGAP1	ORPHA:544254
HP:0000233	Thin vermilion border	8260	NAA10	OMIM:300855
HP:0000233	Thin vermilion border	7468	NSD2	OMIM:619695
HP:0000233	Thin vermilion border	9692	PRORP	OMIM:619737
HP:0000233	Thin vermilion border	55681	SCYL2	OMIM:618766
HP:0000233	Thin vermilion border	29920	PYCR2	ORPHA:481152
HP:0000233	Thin vermilion border	29920	PYCR2	OMIM:616420
HP:0000233	Thin vermilion border	64093	SMOC1	ORPHA:1106
HP:0000233	Thin vermilion border	5566	PRKACA	ORPHA:289
HP:0000233	Thin vermilion border	5567	PRKACB	ORPHA:289
HP:0000233	Thin vermilion border	2735	GLI1	ORPHA:289
HP:0000233	Thin vermilion border	2121	EVC	ORPHA:289
HP:0000233	Thin vermilion border	51626	DYNC2LI1	ORPHA:289
HP:0000233	Thin vermilion border	132884	EVC2	ORPHA:289
HP:0000233	Thin vermilion border	9401	RECQL4	OMIM:218600
HP:0000233	Thin vermilion border	7319	UBE2A	OMIM:300860
HP:0000233	Thin vermilion border	7319	UBE2A	ORPHA:163956
HP:0000233	Thin vermilion border	9896	FIG4	ORPHA:3472
HP:0000233	Thin vermilion border	9896	FIG4	OMIM:216340
HP:0000233	Thin vermilion border	55697	VAC14	ORPHA:3472
HP:0000233	Thin vermilion border	8091	HMGA2	ORPHA:94063
HP:0000233	Thin vermilion border	23592	LEMD3	ORPHA:94063
HP:0000233	Thin vermilion border	3977	LIFR	OMIM:601559
HP:0000233	Thin vermilion border	25	ABL1	OMIM:617602
HP:0000233	Thin vermilion border	8550	MAPKAPK5	OMIM:619869
HP:0000233	Thin vermilion border	8036	SHOC2	ORPHA:2701
HP:0000233	Thin vermilion border	5500	PPP1CB	ORPHA:2701
HP:0000233	Thin vermilion border	55012	PPP2R3C	OMIM:618419
HP:0000233	Thin vermilion border	1009	CDH11	ORPHA:1299
HP:0000233	Thin vermilion border	649	BMP1	OMIM:614856
HP:0000233	Thin vermilion border	124512	METTL23	OMIM:615942
HP:0000233	Thin vermilion border	2752	GLUL	OMIM:610015
HP:0000233	Thin vermilion border	64132	XYLT2	ORPHA:85194
HP:0000233	Thin vermilion border	89910	UBE3B	ORPHA:2707
HP:0000233	Thin vermilion border	4853	NOTCH2	ORPHA:955
HP:0000233	Thin vermilion border	4000	LMNA	ORPHA:79474
HP:0000233	Thin vermilion border	4000	LMNA	ORPHA:740
HP:0000233	Thin vermilion border	4247	MGAT2	OMIM:212066
HP:0000233	Thin vermilion border	79718	TBL1XR1	ORPHA:487825
HP:0000233	Thin vermilion border	79718	TBL1XR1	OMIM:602342
HP:0000233	Thin vermilion border	2697	GJA1	OMIM:257850
HP:0000233	Thin vermilion border	80185	TTI2	ORPHA:391307
HP:0000233	Thin vermilion border	2074	ERCC6	OMIM:214150
HP:0000233	Thin vermilion border	3192	HNRNPU	ORPHA:238769
HP:0000233	Thin vermilion border	23476	BRD4	ORPHA:199
HP:0000233	Thin vermilion border	8243	SMC1A	ORPHA:199
HP:0000233	Thin vermilion border	25836	NIPBL	ORPHA:199
HP:0000233	Thin vermilion border	10664	CTCF	ORPHA:363611
HP:0000233	Thin vermilion border	10664	CTCF	OMIM:615502
HP:0000233	Thin vermilion border	29895	MYL11	OMIM:619110
HP:0000233	Thin vermilion border	23126	POGZ	OMIM:616364
HP:0000233	Thin vermilion border	145173	B3GLCT	OMIM:261540
HP:0000233	Thin vermilion border	55699	IARS2	OMIM:616007
HP:0000233	Thin vermilion border	117581	TWIST2	OMIM:209885
HP:0000233	Thin vermilion border	117581	TWIST2	ORPHA:920
HP:0000233	Thin vermilion border	11128	POLR3A	OMIM:264090
HP:0000233	Thin vermilion border	8405	SPOP	OMIM:618829
HP:0000233	Thin vermilion border	10907	TXNL4A	OMIM:608572
HP:0000233	Thin vermilion border	23630	KCNE5	ORPHA:86818
HP:0000233	Thin vermilion border	2182	ACSL4	ORPHA:86818
HP:0000233	Thin vermilion border	9949	AMMECR1	ORPHA:86818
HP:0000233	Thin vermilion border	2887	GRB10	ORPHA:96182
HP:0000233	Thin vermilion border	10269	ZMPSTE24	ORPHA:740
HP:0000233	Thin vermilion border	6595	SMARCA2	ORPHA:3051
HP:0000233	Thin vermilion border	5159	PDGFRB	OMIM:601812
HP:0000233	Thin vermilion border	23261	CAMTA1	OMIM:614756
HP:0000233	Thin vermilion border	9968	MED12	OMIM:300895
HP:0000233	Thin vermilion border	2332	FMR1	ORPHA:261483
HP:0000233	Thin vermilion border	55023	PHIP	OMIM:617991
HP:0000233	Thin vermilion border	55023	PHIP	ORPHA:589905
HP:0000233	Thin vermilion border	4763	NF1	ORPHA:139474
HP:0000233	Thin vermilion border	178	AGL	OMIM:232400
HP:0000233	Thin vermilion border	8815	BANF1	OMIM:614008
HP:0000233	Thin vermilion border	51594	NBAS	OMIM:614800
HP:0000233	Thin vermilion border	10225	CD96	ORPHA:1308
HP:0000233	Thin vermilion border	4693	NDP	ORPHA:649
HP:0000233	Thin vermilion border	71	ACTG1	ORPHA:2995
HP:0000233	Thin vermilion border	60	ACTB	ORPHA:2995
HP:0000233	Thin vermilion border	860	RUNX2	OMIM:156510
HP:0000233	Thin vermilion border	8621	CDK13	OMIM:617360
HP:0000233	Thin vermilion border	221927	BRAT1	OMIM:618056
HP:0000233	Thin vermilion border	57728	WDR19	OMIM:614378
HP:0000233	Thin vermilion border	2703	GJA8	OMIM:612474
HP:0000233	Thin vermilion border	6888	TALDO1	OMIM:606003
HP:0000233	Thin vermilion border	56052	ALG1	OMIM:608540
HP:0000233	Thin vermilion border	4089	SMAD4	ORPHA:2588
HP:0000233	Thin vermilion border	6309	SC5D	OMIM:607330
HP:0000233	Thin vermilion border	9653	HS2ST1	OMIM:619194
HP:0000233	Thin vermilion border	79228	THOC6	ORPHA:363444
HP:0000233	Thin vermilion border	23556	PIGN	ORPHA:280633
HP:0000233	Thin vermilion border	90417	KNSTRN	OMIM:613328
HP:0000233	Thin vermilion border	90417	KNSTRN	ORPHA:221139
HP:0000233	Thin vermilion border	5293	PIK3CD	OMIM:613328
HP:0000233	Thin vermilion border	5293	PIK3CD	ORPHA:221139
HP:0000214	Lip telangiectasia	94	ACVRL1	OMIM:600376
HP:0000214	Lip telangiectasia	4668	NAGA	ORPHA:79280
HP:0000214	Lip telangiectasia	4668	NAGA	OMIM:609242
HP:0000214	Lip telangiectasia	2022	ENG	OMIM:187300
HP:0000214	Lip telangiectasia	3930	LBR	OMIM:613471
HP:0000215	Thick upper lip vermilion	2239	GPC4	OMIM:301026
HP:0000215	Thick upper lip vermilion	1301	COL11A1	OMIM:154780
HP:0000215	Thick upper lip vermilion	1301	COL11A1	ORPHA:560
HP:0000215	Thick upper lip vermilion	253738	EBF3	OMIM:617330
HP:0000215	Thick upper lip vermilion	54888	NSUN2	OMIM:611091
HP:0000215	Thick upper lip vermilion	324	APC	ORPHA:261584
HP:0000215	Thick upper lip vermilion	8260	NAA10	OMIM:300855
HP:0000215	Thick upper lip vermilion	5063	PAK3	OMIM:300558
HP:0000215	Thick upper lip vermilion	79029	AFG2B	OMIM:619616
HP:0000215	Thick upper lip vermilion	117581	TWIST2	OMIM:227260
HP:0000215	Thick upper lip vermilion	738	VPS51	OMIM:618606
HP:0000215	Thick upper lip vermilion	51126	NAA20	OMIM:619717
HP:0000215	Thick upper lip vermilion	6201	RPS7	OMIM:612563
HP:0000215	Thick upper lip vermilion	80232	WDR26	OMIM:617616
HP:0000215	Thick upper lip vermilion	114034	TOE1	OMIM:614969
HP:0000215	Thick upper lip vermilion	114034	TOE1	ORPHA:284339
HP:0000215	Thick upper lip vermilion	10060	ABCC9	OMIM:239850
HP:0000215	Thick upper lip vermilion	9241	NOG	OMIM:186500
HP:0000215	Thick upper lip vermilion	79228	THOC6	ORPHA:363444
HP:0000215	Thick upper lip vermilion	9562	MINPP1	ORPHA:284339
HP:0000215	Thick upper lip vermilion	23258	DENND5A	OMIM:617281
HP:0000215	Thick upper lip vermilion	8621	CDK13	OMIM:617360
HP:0000215	Thick upper lip vermilion	672	BRCA1	OMIM:617883
HP:0000215	Thick upper lip vermilion	23030	KDM4B	OMIM:619320
HP:0000215	Thick upper lip vermilion	92335	STRADA	OMIM:611087
HP:0000215	Thick upper lip vermilion	79639	TMEM53	OMIM:619727
HP:0000215	Thick upper lip vermilion	22858	CILK1	OMIM:612651
HP:0000215	Thick upper lip vermilion	6309	SC5D	OMIM:607330
HP:0000216	Broad secondary alveolar ridge	9896	FIG4	ORPHA:3472
HP:0000216	Broad secondary alveolar ridge	55697	VAC14	ORPHA:3472
HP:0000219	Thin upper lip vermilion	8243	SMC1A	OMIM:300590
HP:0000219	Thin upper lip vermilion	8243	SMC1A	OMIM:301044
HP:0000219	Thin upper lip vermilion	158	ADSL	OMIM:103050
HP:0000219	Thin upper lip vermilion	158	ADSL	ORPHA:46
HP:0000219	Thin upper lip vermilion	11253	MAN1B1	ORPHA:397941
HP:0000219	Thin upper lip vermilion	11253	MAN1B1	OMIM:614202
HP:0000219	Thin upper lip vermilion	23394	ADNP	ORPHA:404448
HP:0000219	Thin upper lip vermilion	23394	ADNP	OMIM:615873
HP:0000219	Thin upper lip vermilion	8367	H4C5	OMIM:619950
HP:0000219	Thin upper lip vermilion	104	ADARB1	OMIM:618862
HP:0000219	Thin upper lip vermilion	23241	PACS2	OMIM:618067
HP:0000219	Thin upper lip vermilion	5885	RAD21	OMIM:614701
HP:0000219	Thin upper lip vermilion	775	CACNA1C	OMIM:620029
HP:0000219	Thin upper lip vermilion	775	CACNA1C	OMIM:601005
HP:0000219	Thin upper lip vermilion	84282	RNF135	ORPHA:137634
HP:0000219	Thin upper lip vermilion	55627	SMPD4	OMIM:618622
HP:0000219	Thin upper lip vermilion	145173	B3GLCT	ORPHA:709
HP:0000219	Thin upper lip vermilion	145173	B3GLCT	OMIM:261540
HP:0000219	Thin upper lip vermilion	3703	STT3A	OMIM:619714
HP:0000219	Thin upper lip vermilion	4774	NFIA	OMIM:613735
HP:0000219	Thin upper lip vermilion	10060	ABCC9	OMIM:619719
HP:0000219	Thin upper lip vermilion	23126	POGZ	ORPHA:468678
HP:0000219	Thin upper lip vermilion	55209	SETD5	ORPHA:404440
HP:0000219	Thin upper lip vermilion	55209	SETD5	OMIM:615761
HP:0000219	Thin upper lip vermilion	1836	SLC26A2	ORPHA:56304
HP:0000219	Thin upper lip vermilion	4983	OPHN1	OMIM:300486
HP:0000219	Thin upper lip vermilion	10743	RAI1	ORPHA:477817
HP:0000219	Thin upper lip vermilion	4281	MID1	OMIM:300000
HP:0000219	Thin upper lip vermilion	116931	MED12L	OMIM:618872
HP:0000219	Thin upper lip vermilion	9578	CDC42BPB	OMIM:619841
HP:0000219	Thin upper lip vermilion	613	BCR	ORPHA:261330
HP:0000219	Thin upper lip vermilion	1399	CRKL	ORPHA:261330
HP:0000219	Thin upper lip vermilion	5594	MAPK1	ORPHA:261330
HP:0000219	Thin upper lip vermilion	10300	KATNB1	OMIM:616212
HP:0000219	Thin upper lip vermilion	80816	ASXL3	OMIM:615485
HP:0000219	Thin upper lip vermilion	89910	UBE3B	OMIM:244450
HP:0000219	Thin upper lip vermilion	1855	DVL1	OMIM:616331
HP:0000219	Thin upper lip vermilion	1855	DVL1	OMIM:180700
HP:0000219	Thin upper lip vermilion	283489	CHAMP1	OMIM:616579
HP:0000219	Thin upper lip vermilion	10026	PIGK	OMIM:618879
HP:0000219	Thin upper lip vermilion	55690	PACS1	OMIM:615009
HP:0000219	Thin upper lip vermilion	55690	PACS1	ORPHA:329224
HP:0000219	Thin upper lip vermilion	55788	LMBRD1	OMIM:277380
HP:0000219	Thin upper lip vermilion	28960	DCPS	OMIM:616459
HP:0000219	Thin upper lip vermilion	10978	CLP1	OMIM:615803
HP:0000219	Thin upper lip vermilion	9382	COG1	OMIM:611209
HP:0000219	Thin upper lip vermilion	9382	COG1	ORPHA:263508
HP:0000219	Thin upper lip vermilion	55650	PIGV	OMIM:239300
HP:0000219	Thin upper lip vermilion	6595	SMARCA2	OMIM:619293
HP:0000219	Thin upper lip vermilion	6595	SMARCA2	OMIM:601358
HP:0000219	Thin upper lip vermilion	1185	CLCN6	OMIM:619173
HP:0000219	Thin upper lip vermilion	56992	KIF15	ORPHA:261323
HP:0000219	Thin upper lip vermilion	170302	ARX	OMIM:300215
HP:0000219	Thin upper lip vermilion	57492	ARID1B	OMIM:135900
HP:0000219	Thin upper lip vermilion	57492	ARID1B	ORPHA:1465
HP:0000219	Thin upper lip vermilion	3899	AFF3	OMIM:619297
HP:0000219	Thin upper lip vermilion	113189	CHST14	ORPHA:2953
HP:0000219	Thin upper lip vermilion	113189	CHST14	OMIM:601776
HP:0000219	Thin upper lip vermilion	29940	DSE	ORPHA:2953
HP:0000219	Thin upper lip vermilion	7994	KAT6A	ORPHA:457193
HP:0000219	Thin upper lip vermilion	7994	KAT6A	OMIM:616268
HP:0000219	Thin upper lip vermilion	2770	GNAI1	OMIM:619854
HP:0000219	Thin upper lip vermilion	1009	CDH11	OMIM:619736
HP:0000219	Thin upper lip vermilion	1009	CDH11	OMIM:211380
HP:0000219	Thin upper lip vermilion	23325	WASHC4	OMIM:615817
HP:0000219	Thin upper lip vermilion	8546	AP3B1	OMIM:608233
HP:0000219	Thin upper lip vermilion	6597	SMARCA4	OMIM:614609
HP:0000219	Thin upper lip vermilion	6597	SMARCA4	ORPHA:1465
HP:0000219	Thin upper lip vermilion	79087	ALG12	OMIM:607143
HP:0000219	Thin upper lip vermilion	79087	ALG12	ORPHA:79324
HP:0000219	Thin upper lip vermilion	6872	TAF1	ORPHA:480907
HP:0000219	Thin upper lip vermilion	6872	TAF1	OMIM:300966
HP:0000219	Thin upper lip vermilion	10484	SEC23A	OMIM:607812
HP:0000219	Thin upper lip vermilion	64919	BCL11B	OMIM:618092
HP:0000219	Thin upper lip vermilion	5159	PDGFRB	OMIM:616592
HP:0000219	Thin upper lip vermilion	51651	PTRH2	ORPHA:456312
HP:0000219	Thin upper lip vermilion	51651	PTRH2	OMIM:616263
HP:0000219	Thin upper lip vermilion	4212	MEIS2	OMIM:600987
HP:0000219	Thin upper lip vermilion	4297	KMT2A	ORPHA:319182
HP:0000219	Thin upper lip vermilion	4297	KMT2A	OMIM:605130
HP:0000219	Thin upper lip vermilion	23036	ZNF292	OMIM:619188
HP:0000219	Thin upper lip vermilion	54872	PIGG	ORPHA:488635
HP:0000219	Thin upper lip vermilion	5813	PURA	ORPHA:438216
HP:0000219	Thin upper lip vermilion	10352	WARS2	ORPHA:572798
HP:0000219	Thin upper lip vermilion	2783	GNB2	OMIM:619503
HP:0000219	Thin upper lip vermilion	26057	ANKRD17	OMIM:619504
HP:0000219	Thin upper lip vermilion	55623	THUMPD1	OMIM:619989
HP:0000219	Thin upper lip vermilion	25942	SIN3A	OMIM:613406
HP:0000219	Thin upper lip vermilion	5373	PMM2	OMIM:212065
HP:0000219	Thin upper lip vermilion	5373	PMM2	ORPHA:79318
HP:0000219	Thin upper lip vermilion	1499	CTNNB1	ORPHA:404473
HP:0000219	Thin upper lip vermilion	1499	CTNNB1	OMIM:615075
HP:0000219	Thin upper lip vermilion	699	BUB1	OMIM:620183
HP:0000219	Thin upper lip vermilion	9653	HS2ST1	OMIM:619194
HP:0000219	Thin upper lip vermilion	4953	ODC1	OMIM:619075
HP:0000219	Thin upper lip vermilion	253738	EBF3	OMIM:617330
HP:0000219	Thin upper lip vermilion	8493	PPM1D	OMIM:617450
HP:0000219	Thin upper lip vermilion	29081	METTL5	OMIM:618665
HP:0000219	Thin upper lip vermilion	29081	METTL5	ORPHA:2512
HP:0000219	Thin upper lip vermilion	6905	TBCE	OMIM:241410
HP:0000219	Thin upper lip vermilion	2200	FBN1	OMIM:614185
HP:0000219	Thin upper lip vermilion	8558	CDK10	OMIM:617694
HP:0000219	Thin upper lip vermilion	5063	PAK3	OMIM:300558
HP:0000219	Thin upper lip vermilion	51633	OTUD6B	OMIM:617452
HP:0000219	Thin upper lip vermilion	51633	OTUD6B	ORPHA:505237
HP:0000219	Thin upper lip vermilion	51660	MPC1	OMIM:614741
HP:0000219	Thin upper lip vermilion	1182	CLCN3	OMIM:619517
HP:0000219	Thin upper lip vermilion	8239	USP9X	ORPHA:480880
HP:0000219	Thin upper lip vermilion	116115	ZNF526	OMIM:619877
HP:0000219	Thin upper lip vermilion	285175	UNC80	OMIM:616801
HP:0000219	Thin upper lip vermilion	285175	UNC80	ORPHA:371364
HP:0000219	Thin upper lip vermilion	3098	HK1	OMIM:618547
HP:0000219	Thin upper lip vermilion	9091	PIGQ	OMIM:618548
HP:0000219	Thin upper lip vermilion	6134	RPL10	ORPHA:459070
HP:0000219	Thin upper lip vermilion	6134	RPL10	OMIM:300998
HP:0000219	Thin upper lip vermilion	6134	RPL10	ORPHA:435938
HP:0000219	Thin upper lip vermilion	93210	PGAP3	OMIM:615716
HP:0000219	Thin upper lip vermilion	8085	KMT2D	OMIM:620186
HP:0000219	Thin upper lip vermilion	79796	ALG9	ORPHA:79328
HP:0000219	Thin upper lip vermilion	283209	PGM2L1	OMIM:620191
HP:0000219	Thin upper lip vermilion	57459	GATAD2B	ORPHA:363686
HP:0000219	Thin upper lip vermilion	57459	GATAD2B	OMIM:615074
HP:0000219	Thin upper lip vermilion	4094	MAF	ORPHA:1272
HP:0000219	Thin upper lip vermilion	4094	MAF	OMIM:601088
HP:0000219	Thin upper lip vermilion	8818	DPM2	OMIM:615042
HP:0000219	Thin upper lip vermilion	8818	DPM2	ORPHA:329178
HP:0000219	Thin upper lip vermilion	4089	SMAD4	OMIM:139210
HP:0000219	Thin upper lip vermilion	53335	BCL11A	OMIM:617101
HP:0000219	Thin upper lip vermilion	6942	TCF20	OMIM:618430
HP:0000219	Thin upper lip vermilion	92002	CCNQ	ORPHA:140952
HP:0000219	Thin upper lip vermilion	92002	CCNQ	OMIM:300707
HP:0000219	Thin upper lip vermilion	81887	LAS1L	ORPHA:3459
HP:0000219	Thin upper lip vermilion	55869	HDAC8	ORPHA:3459
HP:0000219	Thin upper lip vermilion	5591	PRKDC	OMIM:615966
HP:0000219	Thin upper lip vermilion	10472	ZBTB18	OMIM:612337
HP:0000219	Thin upper lip vermilion	9772	TMEM94	OMIM:618316
HP:0000219	Thin upper lip vermilion	6605	SMARCE1	OMIM:616938
HP:0000219	Thin upper lip vermilion	6605	SMARCE1	ORPHA:1465
HP:0000219	Thin upper lip vermilion	471	ATIC	OMIM:608688
HP:0000219	Thin upper lip vermilion	471	ATIC	ORPHA:250977
HP:0000219	Thin upper lip vermilion	2683	B4GALT1	ORPHA:79332
HP:0000219	Thin upper lip vermilion	11128	POLR3A	ORPHA:3455
HP:0000219	Thin upper lip vermilion	10430	TMEM147	OMIM:620075
HP:0000219	Thin upper lip vermilion	23314	SATB2	ORPHA:576283
HP:0000219	Thin upper lip vermilion	4920	ROR2	OMIM:268310
HP:0000219	Thin upper lip vermilion	8242	KDM5C	OMIM:300534
HP:0000219	Thin upper lip vermilion	23162	MAPK8IP3	OMIM:618443
HP:0000219	Thin upper lip vermilion	546	ATRX	OMIM:309580
HP:0000219	Thin upper lip vermilion	25836	NIPBL	OMIM:122470
HP:0000219	Thin upper lip vermilion	51322	WAC	OMIM:616708
HP:0000219	Thin upper lip vermilion	51322	WAC	ORPHA:466950
HP:0000219	Thin upper lip vermilion	6513	SLC2A1	ORPHA:1942
HP:0000219	Thin upper lip vermilion	8831	SYNGAP1	ORPHA:1942
HP:0000219	Thin upper lip vermilion	1173	AP2M1	ORPHA:1942
HP:0000219	Thin upper lip vermilion	1173	AP2M1	OMIM:618587
HP:0000219	Thin upper lip vermilion	6323	SCN1A	ORPHA:1942
HP:0000219	Thin upper lip vermilion	340533	NEXMIF	ORPHA:1942
HP:0000219	Thin upper lip vermilion	1106	CHD2	ORPHA:1942
HP:0000219	Thin upper lip vermilion	6529	SLC6A1	ORPHA:1942
HP:0000219	Thin upper lip vermilion	9896	FIG4	OMIM:216340
HP:0000219	Thin upper lip vermilion	1387	CREBBP	OMIM:618332
HP:0000219	Thin upper lip vermilion	1387	CREBBP	OMIM:180849
HP:0000219	Thin upper lip vermilion	2033	EP300	OMIM:618333
HP:0000219	Thin upper lip vermilion	2033	EP300	OMIM:180849
HP:0000219	Thin upper lip vermilion	8295	TRRAP	OMIM:618454
HP:0000219	Thin upper lip vermilion	54903	MKS1	OMIM:249000
HP:0000219	Thin upper lip vermilion	8621	CDK13	OMIM:617360
HP:0000219	Thin upper lip vermilion	1523	CUX1	OMIM:618330
HP:0000219	Thin upper lip vermilion	84188	FAR1	OMIM:616154
HP:0000219	Thin upper lip vermilion	84188	FAR1	ORPHA:438178
HP:0000219	Thin upper lip vermilion	2702	GJA5	OMIM:612474
HP:0000219	Thin upper lip vermilion	2703	GJA8	OMIM:612474
HP:0000219	Thin upper lip vermilion	4208	MEF2C	OMIM:613443
HP:0000219	Thin upper lip vermilion	6878	TAF6	OMIM:617126
HP:0000219	Thin upper lip vermilion	7227	TRPS1	OMIM:190350
HP:0000219	Thin upper lip vermilion	7227	TRPS1	OMIM:190351
HP:0000219	Thin upper lip vermilion	7227	TRPS1	ORPHA:502
HP:0000219	Thin upper lip vermilion	1642	DDB1	OMIM:619426
HP:0000219	Thin upper lip vermilion	55770	EXOC2	OMIM:619306
HP:0000219	Thin upper lip vermilion	6857	SYT1	OMIM:618218
HP:0000219	Thin upper lip vermilion	6857	SYT1	ORPHA:522077
HP:0000219	Thin upper lip vermilion	10075	HUWE1	OMIM:309590
HP:0000219	Thin upper lip vermilion	9949	AMMECR1	OMIM:300990
HP:0000219	Thin upper lip vermilion	22827	PUF60	ORPHA:508498
HP:0000219	Thin upper lip vermilion	22827	PUF60	ORPHA:508488
HP:0000219	Thin upper lip vermilion	22827	PUF60	OMIM:615583
HP:0000219	Thin upper lip vermilion	5898	RALA	OMIM:619311
HP:0000219	Thin upper lip vermilion	23013	SPEN	OMIM:619312
HP:0000219	Thin upper lip vermilion	8473	OGT	OMIM:300997
HP:0000219	Thin upper lip vermilion	2290	FOXG1	OMIM:613454
HP:0000219	Thin upper lip vermilion	29123	ANKRD11	ORPHA:2332
HP:0000219	Thin upper lip vermilion	55628	ZNF407	OMIM:619557
HP:0000219	Thin upper lip vermilion	100151683	RNU4ATAC	ORPHA:353298
HP:0000219	Thin upper lip vermilion	100151683	RNU4ATAC	OMIM:616651
HP:0000219	Thin upper lip vermilion	23028	KDM1A	OMIM:616728
HP:0000219	Thin upper lip vermilion	23028	KDM1A	ORPHA:477993
HP:0000219	Thin upper lip vermilion	7681	MKRN3	OMIM:176270
HP:0000219	Thin upper lip vermilion	3653	IPW	OMIM:176270
HP:0000219	Thin upper lip vermilion	54551	MAGEL2	OMIM:176270
HP:0000219	Thin upper lip vermilion	54551	MAGEL2	ORPHA:177901
HP:0000219	Thin upper lip vermilion	54551	MAGEL2	ORPHA:398069
HP:0000219	Thin upper lip vermilion	791114	PWRN1	OMIM:176270
HP:0000219	Thin upper lip vermilion	100033413	SNORD116-1	OMIM:176270
HP:0000219	Thin upper lip vermilion	8924	HERC2	OMIM:176270
HP:0000219	Thin upper lip vermilion	145624	PWAR1	OMIM:176270
HP:0000219	Thin upper lip vermilion	23742	NPAP1	OMIM:176270
HP:0000219	Thin upper lip vermilion	338433	SNORD115-1	OMIM:176270
HP:0000219	Thin upper lip vermilion	128869	PIGU	OMIM:618590
HP:0000219	Thin upper lip vermilion	27125	AFF4	ORPHA:444077
HP:0000219	Thin upper lip vermilion	5575	PRKAR1B	OMIM:619680
HP:0000219	Thin upper lip vermilion	57465	TBC1D24	OMIM:220500
HP:0000219	Thin upper lip vermilion	57465	TBC1D24	ORPHA:79500
HP:0000219	Thin upper lip vermilion	10847	SRCAP	OMIM:136140
HP:0000219	Thin upper lip vermilion	10847	SRCAP	OMIM:619595
HP:0000219	Thin upper lip vermilion	63895	PIEZO2	OMIM:617146
HP:0000219	Thin upper lip vermilion	83479	DDX59	OMIM:174300
HP:0000219	Thin upper lip vermilion	6492	SIM1	ORPHA:398079
HP:0000219	Thin upper lip vermilion	55784	MCTP2	ORPHA:1596
HP:0000219	Thin upper lip vermilion	169792	GLIS3	OMIM:610199
HP:0000219	Thin upper lip vermilion	998	CDC42	OMIM:616737
HP:0000219	Thin upper lip vermilion	998	CDC42	ORPHA:487796
HP:0000219	Thin upper lip vermilion	3097	HIVEP2	OMIM:616977
HP:0000219	Thin upper lip vermilion	10982	MAPRE2	OMIM:616734
HP:0000219	Thin upper lip vermilion	4952	OCRL	ORPHA:534
HP:0000219	Thin upper lip vermilion	9126	SMC3	OMIM:610759
HP:0000219	Thin upper lip vermilion	84679	SLC9A7	OMIM:301024
HP:0000219	Thin upper lip vermilion	64135	IFIH1	OMIM:182250
HP:0000219	Thin upper lip vermilion	1725	DHPS	OMIM:618480
HP:0000219	Thin upper lip vermilion	16	AARS1	OMIM:619691
HP:0000219	Thin upper lip vermilion	55777	MBD5	OMIM:156200
HP:0000219	Thin upper lip vermilion	6638	SNRPN	ORPHA:177901
HP:0000219	Thin upper lip vermilion	6638	SNRPN	ORPHA:177907
HP:0000219	Thin upper lip vermilion	4692	NDN	ORPHA:177901
HP:0000219	Thin upper lip vermilion	4948	OCA2	ORPHA:177901
HP:0000219	Thin upper lip vermilion	10735	STAG2	OMIM:301022
HP:0000219	Thin upper lip vermilion	23221	RHOBTB2	OMIM:618004
HP:0000219	Thin upper lip vermilion	6601	SMARCC2	OMIM:618362
HP:0000219	Thin upper lip vermilion	6601	SMARCC2	ORPHA:1465
HP:0000219	Thin upper lip vermilion	8260	NAA10	OMIM:300855
HP:0000219	Thin upper lip vermilion	10265	IRX5	OMIM:611174
HP:0000219	Thin upper lip vermilion	6598	SMARCB1	ORPHA:1465
HP:0000219	Thin upper lip vermilion	6659	SOX4	ORPHA:1465
HP:0000219	Thin upper lip vermilion	8289	ARID1A	ORPHA:1465
HP:0000219	Thin upper lip vermilion	5977	DPF2	ORPHA:1465
HP:0000219	Thin upper lip vermilion	5977	DPF2	OMIM:618027
HP:0000219	Thin upper lip vermilion	6602	SMARCD1	ORPHA:1465
HP:0000219	Thin upper lip vermilion	196528	ARID2	ORPHA:1465
HP:0000219	Thin upper lip vermilion	6664	SOX11	ORPHA:1465
HP:0000219	Thin upper lip vermilion	57211	ADGRG6	OMIM:616503
HP:0000219	Thin upper lip vermilion	9969	MED13	OMIM:618009
HP:0000219	Thin upper lip vermilion	5308	PITX2	OMIM:180500
HP:0000219	Thin upper lip vermilion	259232	NALCN	OMIM:615419
HP:0000219	Thin upper lip vermilion	259232	NALCN	ORPHA:371364
HP:0000219	Thin upper lip vermilion	3759	KCNJ2	OMIM:170390
HP:0000219	Thin upper lip vermilion	3759	KCNJ2	ORPHA:37553
HP:0000219	Thin upper lip vermilion	1000	CDH2	OMIM:618929
HP:0000219	Thin upper lip vermilion	9241	NOG	OMIM:186500
HP:0000219	Thin upper lip vermilion	7703	PCGF2	OMIM:618371
HP:0000219	Thin upper lip vermilion	23522	KAT6B	OMIM:603736
HP:0000219	Thin upper lip vermilion	5718	PSMD12	ORPHA:529962
HP:0000219	Thin upper lip vermilion	2186	BPTF	ORPHA:529962
HP:0000219	Thin upper lip vermilion	2186	BPTF	OMIM:617755
HP:0000219	Thin upper lip vermilion	1822	ATN1	OMIM:618494
HP:0000219	Thin upper lip vermilion	26040	SETBP1	OMIM:616078
HP:0000219	Thin upper lip vermilion	5144	PDE4D	ORPHA:439822
HP:0000219	Thin upper lip vermilion	83696	TRAPPC9	ORPHA:352530
HP:0000219	Thin upper lip vermilion	23384	SPECC1L	OMIM:145420
HP:0000219	Thin upper lip vermilion	2475	MTOR	OMIM:616638
HP:0000219	Thin upper lip vermilion	79718	TBL1XR1	ORPHA:487825
HP:0000219	Thin upper lip vermilion	60	ACTB	OMIM:243310
HP:0000219	Thin upper lip vermilion	50801	KCNK4	OMIM:618381
HP:0000219	Thin upper lip vermilion	11212	PLPBP	OMIM:617290
HP:0000219	Thin upper lip vermilion	10664	CTCF	ORPHA:363611
HP:0000219	Thin upper lip vermilion	8812	CCNK	OMIM:618147
HP:0000219	Thin upper lip vermilion	71	ACTG1	OMIM:614583
HP:0000219	Thin upper lip vermilion	6711	SPTBN1	OMIM:619475
HP:0000219	Thin upper lip vermilion	10815	CPLX1	OMIM:617976
HP:0000219	Thin upper lip vermilion	1213	CLTC	OMIM:617854
HP:0000219	Thin upper lip vermilion	1859	DYRK1A	OMIM:614104
HP:0000219	Thin upper lip vermilion	29957	SLC25A24	OMIM:612289
HP:0000219	Thin upper lip vermilion	9968	MED12	OMIM:309520
HP:0000219	Thin upper lip vermilion	526	ATP6V1B2	ORPHA:79500
HP:0000219	Thin upper lip vermilion	2131	EXT1	ORPHA:502
HP:0000219	Thin upper lip vermilion	63932	STEEP1	OMIM:301013
HP:0000219	Thin upper lip vermilion	1457	CSNK2A1	OMIM:617062
HP:0000219	Thin upper lip vermilion	7204	TRIO	OMIM:617061
HP:0000219	Thin upper lip vermilion	23556	PIGN	ORPHA:280633
HP:0000219	Thin upper lip vermilion	2571	GAD1	OMIM:619124
HP:0000219	Thin upper lip vermilion	285590	SH3PXD2B	OMIM:249420
HP:0000219	Thin upper lip vermilion	55617	TASP1	OMIM:618950
HP:0000219	Thin upper lip vermilion	54870	QRICH1	OMIM:617982
HP:0000219	Thin upper lip vermilion	6472	SHMT2	OMIM:619121
HP:0000219	Thin upper lip vermilion	23112	TNRC6B	OMIM:619243
HP:0000219	Thin upper lip vermilion	91875	TTC5	OMIM:619244
HP:0000219	Thin upper lip vermilion	112752	IFT43	OMIM:617866
HP:0000219	Thin upper lip vermilion	5500	PPP1CB	OMIM:617506
HP:0000219	Thin upper lip vermilion	93587	TRMT10A	ORPHA:391408
HP:0000219	Thin upper lip vermilion	84919	PPP1R15B	ORPHA:391408
HP:0000219	Thin upper lip vermilion	10551	AGR2	OMIM:620233
HP:0000219	Thin upper lip vermilion	55252	ASXL2	OMIM:617190
HP:0000219	Thin upper lip vermilion	80267	EDEM3	OMIM:619493
HP:0000219	Thin upper lip vermilion	4841	NONO	ORPHA:466791
HP:0000219	Thin upper lip vermilion	10084	PQBP1	OMIM:309500
HP:0000219	Thin upper lip vermilion	57020	VPS35L	OMIM:619135
HP:0000219	Thin upper lip vermilion	9320	TRIP12	OMIM:617752
HP:0000219	Thin upper lip vermilion	10020	GNE	OMIM:269921
HP:0000219	Thin upper lip vermilion	10020	GNE	ORPHA:3166
HP:0000219	Thin upper lip vermilion	5528	PPP2R5D	ORPHA:457279
HP:0000219	Thin upper lip vermilion	1984	EIF5A	OMIM:619376
HP:0000219	Thin upper lip vermilion	178	AGL	OMIM:232400
HP:0000219	Thin upper lip vermilion	650	BMP2	OMIM:617877
HP:0000219	Thin upper lip vermilion	51780	KDM3B	OMIM:618846
HP:0000219	Thin upper lip vermilion	3664	IRF6	ORPHA:1300
HP:0000219	Thin upper lip vermilion	738	VPS51	OMIM:618606
HP:0000219	Thin upper lip vermilion	84700	MYO18B	OMIM:616549
HP:0000219	Thin upper lip vermilion	3778	KCNMA1	OMIM:618729
HP:0000219	Thin upper lip vermilion	4848	CNOT2	OMIM:618608
HP:0000219	Thin upper lip vermilion	10079	ATP9A	OMIM:620242
HP:0000219	Thin upper lip vermilion	7474	WNT5A	OMIM:180700
HP:0000219	Thin upper lip vermilion	9276	COPB2	ORPHA:2512
HP:0000219	Thin upper lip vermilion	11113	CIT	ORPHA:2512
HP:0000219	Thin upper lip vermilion	9928	KIF14	ORPHA:2512
HP:0000219	Thin upper lip vermilion	22995	CEP152	ORPHA:2512
HP:0000219	Thin upper lip vermilion	284403	WDR62	ORPHA:2512
HP:0000219	Thin upper lip vermilion	55262	TRAPPC14	ORPHA:2512
HP:0000219	Thin upper lip vermilion	163786	SASS6	ORPHA:2512
HP:0000219	Thin upper lip vermilion	29920	PYCR2	ORPHA:2512
HP:0000219	Thin upper lip vermilion	84879	MFSD2A	ORPHA:2512
HP:0000219	Thin upper lip vermilion	4176	MCM7	ORPHA:2512
HP:0000219	Thin upper lip vermilion	80254	CEP63	ORPHA:2512
HP:0000219	Thin upper lip vermilion	23310	NCAPD3	ORPHA:2512
HP:0000219	Thin upper lip vermilion	55755	CDK5RAP2	ORPHA:2512
HP:0000219	Thin upper lip vermilion	79648	MCPH1	ORPHA:2512
HP:0000219	Thin upper lip vermilion	6491	STIL	ORPHA:2512
HP:0000219	Thin upper lip vermilion	23141	ANKLE2	ORPHA:2512
HP:0000219	Thin upper lip vermilion	259266	ASPM	ORPHA:2512
HP:0000219	Thin upper lip vermilion	7109	TRAPPC10	ORPHA:2512
HP:0000219	Thin upper lip vermilion	1911	PHC1	ORPHA:2512
HP:0000219	Thin upper lip vermilion	6884	TAF13	ORPHA:2512
HP:0000219	Thin upper lip vermilion	9662	CEP135	ORPHA:2512
HP:0000219	Thin upper lip vermilion	55835	CENPJ	ORPHA:2512
HP:0000219	Thin upper lip vermilion	57082	KNL1	ORPHA:2512
HP:0000219	Thin upper lip vermilion	1021	CDK6	ORPHA:2512
HP:0000219	Thin upper lip vermilion	11011	TLK2	OMIM:618050
HP:0000219	Thin upper lip vermilion	27161	AGO2	OMIM:619149
HP:0000219	Thin upper lip vermilion	101929726	MYMX	OMIM:619941
HP:0000219	Thin upper lip vermilion	23404	EXOSC2	OMIM:617763
HP:0000219	Thin upper lip vermilion	3832	KIF11	OMIM:152950
HP:0000219	Thin upper lip vermilion	5087	PBX1	OMIM:617641
HP:0000219	Thin upper lip vermilion	10844	TUBGCP2	OMIM:618737
HP:0000219	Thin upper lip vermilion	9181	ARHGEF2	OMIM:617523
HP:0000219	Thin upper lip vermilion	57728	WDR19	OMIM:614376
HP:0000219	Thin upper lip vermilion	3480	IGF1R	OMIM:270450
HP:0000219	Thin upper lip vermilion	3762	KCNJ5	ORPHA:37553
HP:0010432	Absent distal phalanx of the 2nd toe	3782	KCNN3	OMIM:618658
HP:0030865	Large elbow	2588	GALNS	OMIM:253000
HP:0030868	Monorchism	26123	TCTN3	ORPHA:2753
HP:0030866	Large knee	9131	AIFM1	ORPHA:83629
HP:0030866	Large knee	375056	MIA3	OMIM:619269
HP:0030866	Large knee	3417	IDH1	ORPHA:99646
HP:0030870	Abnormality of spinal facet joint	57216	VANGL2	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	6347	CCL2	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	81839	VANGL1	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	6862	TBXT	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	80199	FUZ	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	165	AEBP1	OMIM:618000
HP:0030871	Facet joint arthrosis	165	AEBP1	OMIM:618000
HP:0030872	Abnormal cardiac ventricular function	4920	ROR2	OMIM:268310
HP:0030872	Abnormal cardiac ventricular function	7474	WNT5A	OMIM:180700
HP:0030872	Abnormal cardiac ventricular function	1855	DVL1	OMIM:180700
HP:0030872	Abnormal cardiac ventricular function	7092	TLL1	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	57057	TBX20	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	1482	NKX2-5	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	70	ACTC1	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	10370	CITED2	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	2626	GATA4	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	2627	GATA6	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	57190	SELENON	ORPHA:324604
HP:0030872	Abnormal cardiac ventricular function	79572	ATP13A3	OMIM:265400
HP:0030872	Abnormal cardiac ventricular function	1616	DAXX	ORPHA:100075
HP:0030872	Abnormal cardiac ventricular function	546	ATRX	ORPHA:100075
HP:0030872	Abnormal cardiac ventricular function	440275	EIF2AK4	ORPHA:199241
HP:0030872	Abnormal cardiac ventricular function	10568	SLC34A2	ORPHA:60025
HP:0030872	Abnormal cardiac ventricular function	659	BMPR2	OMIM:178600
HP:0030872	Abnormal cardiac ventricular function	3949	LDLR	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	255738	PCSK9	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	26119	LDLRAP1	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	338	APOB	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	64240	ABCG5	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	64241	ABCG8	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	7428	VHL	ORPHA:892
HP:0030872	Abnormal cardiac ventricular function	595	CCND1	ORPHA:892
HP:0030872	Abnormal cardiac ventricular function	4512	MT-CO1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4513	MT-CO2	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4514	MT-CO3	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4519	MT-CYB	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4511	MT-TC	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4574	MT-TS1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4575	MT-TS2	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4558	MT-TF	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4541	MT-ND6	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4567	MT-TL1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4540	MT-ND5	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4566	MT-TK	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4535	MT-ND1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4572	MT-TQ	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4577	MT-TV	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4578	MT-TW	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	54914	FOCAD	OMIM:619991
HP:0030872	Abnormal cardiac ventricular function	10585	POMT1	OMIM:613155
HP:0030872	Abnormal cardiac ventricular function	6390	SDHB	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	644096	SDHAF1	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	OMIM:132900
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	ORPHA:229
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	84665	MYPN	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	2318	FLNC	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	10112	KIF20A	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	55593	OTUD5	OMIM:301056
HP:0030872	Abnormal cardiac ventricular function	11155	LDB3	ORPHA:98912
HP:0030872	Abnormal cardiac ventricular function	7046	TGFBR1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7048	TGFBR2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4015	LOX	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4087	SMAD2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7043	TGFB3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4088	SMAD3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7042	TGFB2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4089	SMAD4	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2200	FBN1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	59	ACTA2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	5592	PRKG1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2301	FOXE3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4144	MAT2A	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	23493	HEY2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	8076	MFAP5	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4638	MYLK	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2006	ELN	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	79147	FKRP	OMIM:607155
HP:0030872	Abnormal cardiac ventricular function	7156	TOP3A	OMIM:618098
HP:0030872	Abnormal cardiac ventricular function	291	SLC25A4	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	5428	POLG	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	56652	TWNK	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	11232	POLG2	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	50484	RRM2B	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	79717	PPCS	OMIM:618189
HP:0030872	Abnormal cardiac ventricular function	37	ACADVL	OMIM:201475
HP:0030872	Abnormal cardiac ventricular function	4607	MYBPC3	OMIM:115197
HP:0030872	Abnormal cardiac ventricular function	4624	MYH6	OMIM:613252
HP:0030872	Abnormal cardiac ventricular function	5664	PSEN2	OMIM:613697
HP:0030872	Abnormal cardiac ventricular function	4878	NPPA	OMIM:612201
HP:0030872	Abnormal cardiac ventricular function	4878	NPPA	ORPHA:1344
HP:0030872	Abnormal cardiac ventricular function	3910	LAMA4	OMIM:615235
HP:0030872	Abnormal cardiac ventricular function	7139	TNNT2	OMIM:115195
HP:0030872	Abnormal cardiac ventricular function	7139	TNNT2	OMIM:601494
HP:0030872	Abnormal cardiac ventricular function	7139	TNNT2	OMIM:612422
HP:0030872	Abnormal cardiac ventricular function	5894	RAF1	OMIM:615916
HP:0030872	Abnormal cardiac ventricular function	8048	CSRP3	OMIM:607482
HP:0030872	Abnormal cardiac ventricular function	8291	DYSF	ORPHA:268
HP:0030872	Abnormal cardiac ventricular function	1674	DES	OMIM:604765
HP:0030872	Abnormal cardiac ventricular function	80206	FHOD3	OMIM:619402
HP:0030872	Abnormal cardiac ventricular function	57798	GATAD1	OMIM:614672
HP:0030872	Abnormal cardiac ventricular function	7276	TTR	ORPHA:85451
HP:0030872	Abnormal cardiac ventricular function	4625	MYH7	OMIM:613426
HP:0030872	Abnormal cardiac ventricular function	3908	LAMA2	ORPHA:258
HP:0030872	Abnormal cardiac ventricular function	58528	RRAGD	OMIM:620152
HP:0030872	Abnormal cardiac ventricular function	6123	RPL3L	OMIM:619371
HP:0030872	Abnormal cardiac ventricular function	388753	COA6	OMIM:616501
HP:0030872	Abnormal cardiac ventricular function	2702	GJA5	OMIM:614049
HP:0030872	Abnormal cardiac ventricular function	6331	SCN5A	ORPHA:1344
HP:0030872	Abnormal cardiac ventricular function	6331	SCN5A	OMIM:601154
HP:0030872	Abnormal cardiac ventricular function	439	GET3	OMIM:620203
HP:0030872	Abnormal cardiac ventricular function	7716	VEZF1	OMIM:620247
HP:0030872	Abnormal cardiac ventricular function	91624	NEXN	OMIM:613876
HP:0030872	Abnormal cardiac ventricular function	91624	NEXN	OMIM:613122
HP:0030872	Abnormal cardiac ventricular function	2218	FKTN	OMIM:611615
HP:0030872	Abnormal cardiac ventricular function	4634	MYL3	OMIM:608751
HP:0030872	Abnormal cardiac ventricular function	51778	MYOZ2	OMIM:613838
HP:0030872	Abnormal cardiac ventricular function	57505	AARS2	OMIM:614096
HP:0030872	Abnormal cardiac ventricular function	3762	KCNJ5	OMIM:613485
HP:0030872	Abnormal cardiac ventricular function	7134	TNNC1	OMIM:613243
HP:0030872	Abnormal cardiac ventricular function	6389	SDHA	OMIM:613642
HP:0030872	Abnormal cardiac ventricular function	7273	TTN	OMIM:604145
HP:0030872	Abnormal cardiac ventricular function	6444	SGCD	OMIM:606685
HP:0030872	Abnormal cardiac ventricular function	567	B2M	ORPHA:314652
HP:0030872	Abnormal cardiac ventricular function	1410	CRYAB	OMIM:615184
HP:0030872	Abnormal cardiac ventricular function	5663	PSEN1	OMIM:613694
HP:0030872	Abnormal cardiac ventricular function	9529	BAG5	OMIM:619747
HP:0030872	Abnormal cardiac ventricular function	1829	DSG2	OMIM:612877
HP:0030872	Abnormal cardiac ventricular function	3920	LAMP2	OMIM:300257
HP:0030872	Abnormal cardiac ventricular function	442721	LMOD2	OMIM:619897
HP:0030872	Abnormal cardiac ventricular function	84705	GTPBP3	ORPHA:444013
HP:0030872	Abnormal cardiac ventricular function	7137	TNNI3	OMIM:613286
HP:0030872	Abnormal cardiac ventricular function	57538	ALPK3	OMIM:618052
HP:0030872	Abnormal cardiac ventricular function	171019	ADAMTS19	OMIM:620067
HP:0030872	Abnormal cardiac ventricular function	6445	SGCG	ORPHA:353
HP:0030872	Abnormal cardiac ventricular function	4000	LMNA	ORPHA:740
HP:0030872	Abnormal cardiac ventricular function	10269	ZMPSTE24	ORPHA:740
HP:0030872	Abnormal cardiac ventricular function	282996	RBM20	OMIM:613172
HP:0030872	Abnormal cardiac ventricular function	5167	ENPP1	ORPHA:51608
HP:0030872	Abnormal cardiac ventricular function	368	ABCC6	ORPHA:51608
HP:0030872	Abnormal cardiac ventricular function	63976	PRDM16	OMIM:615373
HP:0030872	Abnormal cardiac ventricular function	6392	SDHD	OMIM:619167
HP:0030872	Abnormal cardiac ventricular function	29954	POMT2	OMIM:613156
HP:0030872	Abnormal cardiac ventricular function	29954	POMT2	ORPHA:206559
HP:0030872	Abnormal cardiac ventricular function	6533	SLC6A6	OMIM:145350
HP:0030872	Abnormal cardiac ventricular function	10060	ABCC9	OMIM:619719
HP:0030872	Abnormal cardiac ventricular function	4052	LTBP1	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	30008	EFEMP2	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	10516	FBLN5	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	54790	TET2	ORPHA:98826
HP:0030872	Abnormal cardiac ventricular function	4841	NONO	ORPHA:466791
HP:0030872	Abnormal cardiac ventricular function	1738	DLD	ORPHA:2394
HP:0030872	Abnormal cardiac ventricular function	2070	EYA4	ORPHA:217622
HP:0030872	Abnormal cardiac ventricular function	56244	BTNL2	ORPHA:797
HP:0030872	Abnormal cardiac ventricular function	3123	HLA-DRB1	ORPHA:797
HP:0030872	Abnormal cardiac ventricular function	2548	GAA	ORPHA:308552
HP:0030872	Abnormal cardiac ventricular function	23118	TAB2	OMIM:614980
HP:0030872	Abnormal cardiac ventricular function	7026	NR2F2	OMIM:615779
HP:0030872	Abnormal cardiac ventricular function	2657	GDF1	OMIM:613854
HP:0030872	Abnormal cardiac ventricular function	1756	DMD	OMIM:302045
HP:0030872	Abnormal cardiac ventricular function	9531	BAG3	OMIM:613881
HP:0030872	Abnormal cardiac ventricular function	6901	TAFAZZIN	OMIM:302060
HP:0030872	Abnormal cardiac ventricular function	7168	TPM1	OMIM:611878
HP:0030872	Abnormal cardiac ventricular function	7414	VCL	OMIM:613255
HP:0030872	Abnormal cardiac ventricular function	54800	KLHL24	OMIM:620236
HP:0030873	Anti-centromere antibody positivity	3930	LBR	OMIM:613471
HP:0000220	Velopharyngeal insufficiency	4487	MSX1	ORPHA:199302
HP:0000220	Velopharyngeal insufficiency	4487	MSX1	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	5818	NECTIN1	ORPHA:199302
HP:0000220	Velopharyngeal insufficiency	5818	NECTIN1	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	8626	TP63	ORPHA:199302
HP:0000220	Velopharyngeal insufficiency	8626	TP63	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	8626	TP63	OMIM:129400
HP:0000220	Velopharyngeal insufficiency	3664	IRF6	ORPHA:199302
HP:0000220	Velopharyngeal insufficiency	3664	IRF6	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	7314	UBB	ORPHA:99772
HP:0000220	Velopharyngeal insufficiency	57822	GRHL3	ORPHA:99772
HP:0000220	Velopharyngeal insufficiency	79228	THOC6	ORPHA:363444
HP:0000220	Velopharyngeal insufficiency	79228	THOC6	OMIM:613680
HP:0000220	Velopharyngeal insufficiency	10262	SF3B4	OMIM:154400
HP:0000220	Velopharyngeal insufficiency	51132	RLIM	OMIM:300978
HP:0000220	Velopharyngeal insufficiency	6477	SIAH1	OMIM:619314
HP:0000220	Velopharyngeal insufficiency	29998	BICRA	OMIM:619325
HP:0000220	Velopharyngeal insufficiency	101929726	MYMX	OMIM:619941
HP:0000220	Velopharyngeal insufficiency	1739	DLG1	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	652	BMP4	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	999	CDH1	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	5156	PDGFRA	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	9411	ARHGAP29	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	1748	DLX4	ORPHA:199306
HP:0000220	Velopharyngeal insufficiency	10743	RAI1	OMIM:182290
HP:0000220	Velopharyngeal insufficiency	84617	TUBB6	OMIM:617732
HP:0000220	Velopharyngeal insufficiency	117581	TWIST2	OMIM:209885
HP:0000220	Velopharyngeal insufficiency	5885	RAD21	OMIM:614701
HP:0000220	Velopharyngeal insufficiency	7291	TWIST1	OMIM:617746
HP:0000220	Velopharyngeal insufficiency	9993	DGCR2	OMIM:192430
HP:0000220	Velopharyngeal insufficiency	8220	ESS2	OMIM:192430
HP:0000220	Velopharyngeal insufficiency	8214	DGCR6	OMIM:192430
HP:0000220	Velopharyngeal insufficiency	54487	DGCR8	OMIM:192430
HP:0000220	Velopharyngeal insufficiency	6899	TBX1	OMIM:192430
HP:0000220	Velopharyngeal insufficiency	4750	NEK1	ORPHA:2751
HP:0000221	Furrowed tongue	8242	KDM5C	OMIM:300534
HP:0000221	Furrowed tongue	22930	RAB3GAP1	ORPHA:1387
HP:0000221	Furrowed tongue	25782	RAB3GAP2	ORPHA:1387
HP:0000221	Furrowed tongue	81857	MED25	ORPHA:464738
HP:0000221	Furrowed tongue	81857	MED25	OMIM:616449
HP:0000221	Furrowed tongue	26525	IL36RN	OMIM:614204
HP:0000221	Furrowed tongue	3643	INSR	ORPHA:769
HP:0000221	Furrowed tongue	6720	SREBF1	OMIM:158310
HP:0000221	Furrowed tongue	55630	SLC39A4	ORPHA:37
HP:0000221	Furrowed tongue	10483	SEC23B	ORPHA:201
HP:0000221	Furrowed tongue	5728	PTEN	ORPHA:201
HP:0000221	Furrowed tongue	5728	PTEN	OMIM:158350
HP:0000221	Furrowed tongue	6390	SDHB	ORPHA:201
HP:0000221	Furrowed tongue	6392	SDHD	ORPHA:201
HP:0000221	Furrowed tongue	6391	SDHC	ORPHA:201
HP:0000221	Furrowed tongue	207	AKT1	ORPHA:201
HP:0000221	Furrowed tongue	207	AKT1	OMIM:615109
HP:0000221	Furrowed tongue	205717	USF3	ORPHA:201
HP:0000221	Furrowed tongue	5290	PIK3CA	ORPHA:201
HP:0000221	Furrowed tongue	5290	PIK3CA	OMIM:615108
HP:0000221	Furrowed tongue	100144748	KLLN	ORPHA:201
HP:0000221	Furrowed tongue	84314	TMEM107	ORPHA:564
HP:0000221	Furrowed tongue	26123	TCTN3	ORPHA:564
HP:0000221	Furrowed tongue	79867	TCTN2	ORPHA:564
HP:0000221	Furrowed tongue	80776	B9D2	ORPHA:564
HP:0000221	Furrowed tongue	79600	TCTN1	ORPHA:564
HP:0000221	Furrowed tongue	57096	RPGRIP1	ORPHA:564
HP:0000221	Furrowed tongue	79848	CSPP1	ORPHA:564
HP:0000221	Furrowed tongue	80184	CEP290	ORPHA:564
HP:0000221	Furrowed tongue	51259	TMEM216	ORPHA:564
HP:0000221	Furrowed tongue	57545	CC2D2A	ORPHA:564
HP:0000221	Furrowed tongue	79583	TMEM231	ORPHA:564
HP:0000221	Furrowed tongue	91147	TMEM67	ORPHA:564
HP:0000221	Furrowed tongue	79770	TXNDC15	ORPHA:564
HP:0000221	Furrowed tongue	27077	B9D1	ORPHA:564
HP:0000221	Furrowed tongue	23322	RPGRIP1L	ORPHA:564
HP:0000221	Furrowed tongue	54903	MKS1	ORPHA:564
HP:0000221	Furrowed tongue	65062	TMEM237	ORPHA:564
HP:0000221	Furrowed tongue	9427	ECEL1	OMIM:615065
HP:0000221	Furrowed tongue	473	RERE	OMIM:616975
HP:0000221	Furrowed tongue	2706	GJB2	OMIM:148210
HP:0000221	Furrowed tongue	3853	KRT6A	OMIM:615726
HP:0000221	Furrowed tongue	3190	HNRNPK	ORPHA:453504
HP:0000221	Furrowed tongue	3190	HNRNPK	ORPHA:352665
HP:0000221	Furrowed tongue	6660	SOX5	ORPHA:313892
HP:0000221	Furrowed tongue	2719	GPC3	OMIM:312870
HP:0000221	Furrowed tongue	2239	GPC4	OMIM:312870
HP:0000222	Gingival hyperkeratosis	9509	ADAMTS2	OMIM:225410
HP:0000223	Abnormality of taste sensation	8518	ELP1	OMIM:223900
HP:0000223	Abnormality of taste sensation	54463	RETREG1	OMIM:201300
HP:0000223	Abnormality of taste sensation	65125	WNK1	OMIM:201300
HP:0000223	Abnormality of taste sensation	6335	SCN9A	OMIM:201300
HP:0000223	Abnormality of taste sensation	547	KIF1A	OMIM:201300
HP:0000223	Abnormality of taste sensation	55630	SLC39A4	OMIM:201100
HP:0000224	Hypogeusia	8518	ELP1	OMIM:223900
HP:0000224	Hypogeusia	54463	RETREG1	OMIM:201300
HP:0000224	Hypogeusia	65125	WNK1	OMIM:201300
HP:0000224	Hypogeusia	6335	SCN9A	OMIM:201300
HP:0000224	Hypogeusia	547	KIF1A	OMIM:201300
HP:0000224	Hypogeusia	55630	SLC39A4	OMIM:201100
HP:0000227	Tongue telangiectasia	94	ACVRL1	OMIM:600376
HP:0000227	Tongue telangiectasia	2022	ENG	OMIM:187300
HP:0000228	Oral cavity telangiectasia	3930	LBR	OMIM:613471
HP:0000228	Oral cavity telangiectasia	94	ACVRL1	OMIM:600376
HP:0000228	Oral cavity telangiectasia	2022	ENG	OMIM:187300
HP:0000228	Oral cavity telangiectasia	4668	NAGA	ORPHA:79280
HP:0000228	Oral cavity telangiectasia	4668	NAGA	OMIM:609242
HP:0010441	Ectopic accessory finger-like appendage	83479	DDX59	ORPHA:2919
HP:0010443	Bifid femur	100151683	RNU4ATAC	ORPHA:2636
HP:0010443	Bifid femur	55636	CHD7	OMIM:214800
HP:0010443	Bifid femur	55636	CHD7	ORPHA:138
HP:0010443	Bifid femur	9723	SEMA3E	ORPHA:138
HP:0010443	Bifid femur	727857	BHLHA9	ORPHA:1986
HP:0010444	Pulmonary insufficiency	100	ADA	ORPHA:277
HP:0010444	Pulmonary insufficiency	79158	GNPTAB	ORPHA:576
HP:0010444	Pulmonary insufficiency	2294	FOXF1	OMIM:265380
HP:0010444	Pulmonary insufficiency	2316	FLNA	ORPHA:555877
HP:0010444	Pulmonary insufficiency	221496	LEMD2	OMIM:619322
HP:0010444	Pulmonary insufficiency	10112	KIF20A	OMIM:619433
HP:0010444	Pulmonary insufficiency	1278	COL1A2	ORPHA:230851
HP:0010444	Pulmonary insufficiency	1278	COL1A2	OMIM:166210
HP:0010444	Pulmonary insufficiency	30008	EFEMP2	OMIM:614437
HP:0010444	Pulmonary insufficiency	83544	DNAL1	OMIM:614017
HP:0010444	Pulmonary insufficiency	1277	COL1A1	OMIM:166210
HP:0010444	Pulmonary insufficiency	6440	SFTPC	ORPHA:2032
HP:0010444	Pulmonary insufficiency	729238	SFTPA2	ORPHA:2032
HP:0010444	Pulmonary insufficiency	79991	STN1	ORPHA:2032
HP:0010444	Pulmonary insufficiency	653509	SFTPA1	ORPHA:2032
HP:0010444	Pulmonary insufficiency	21	ABCA3	ORPHA:2032
HP:0010444	Pulmonary insufficiency	1832	DSP	ORPHA:2032
HP:0010444	Pulmonary insufficiency	727897	MUC5B	ORPHA:2032
HP:0010444	Pulmonary insufficiency	10144	FAM13A	ORPHA:2032
HP:0010444	Pulmonary insufficiency	23250	ATP11A	ORPHA:2032
HP:0010444	Pulmonary insufficiency	91039	DPP9	ORPHA:2032
HP:0010444	Pulmonary insufficiency	51750	RTEL1	ORPHA:2032
HP:0010444	Pulmonary insufficiency	7012	TERC	ORPHA:2032
HP:0010444	Pulmonary insufficiency	5073	PARN	ORPHA:2032
HP:0010444	Pulmonary insufficiency	7015	TERT	ORPHA:2032
HP:0010444	Pulmonary insufficiency	171019	ADAMTS19	OMIM:620067
HP:0010444	Pulmonary insufficiency	27130	INVS	OMIM:602088
HP:0010444	Pulmonary insufficiency	411	ARSB	OMIM:253200
HP:0010445	Primum atrial septal defect	25790	CFAP45	OMIM:619608
HP:0010445	Primum atrial septal defect	2072	ERCC4	OMIM:615272
HP:0010445	Primum atrial septal defect	79989	IFT56	OMIM:619534
HP:0010445	Primum atrial septal defect	2626	GATA4	OMIM:614430
HP:0010446	Tricuspid stenosis	5337	PLD1	OMIM:212093
HP:0010446	Tricuspid stenosis	4613	MYCN	ORPHA:391641
HP:0010446	Tricuspid stenosis	4613	MYCN	OMIM:164280
HP:0010446	Tricuspid stenosis	2200	FBN1	OMIM:614185
HP:0010446	Tricuspid stenosis	9469	CHST3	OMIM:143095
HP:0010446	Tricuspid stenosis	9719	ADAMTSL2	OMIM:231050
HP:0010446	Tricuspid stenosis	6223	RPS19	OMIM:105650
HP:0010447	Anal fistula	6850	SYK	OMIM:619381
HP:0010447	Anal fistula	4689	NCF4	OMIM:613960
HP:0010447	Anal fistula	2000	ELF4	OMIM:301074
HP:0010447	Anal fistula	917	CD3G	OMIM:615607
HP:0010447	Anal fistula	5317	PKP1	ORPHA:158668
HP:0010447	Anal fistula	7040	TGFB1	OMIM:618213
HP:0010447	Anal fistula	8085	KMT2D	OMIM:147920
HP:0010447	Anal fistula	7403	KDM6A	OMIM:147920
HP:0010447	Anal fistula	3110	MNX1	OMIM:176450
HP:0010448	Colonic atresia	57217	TTC7A	OMIM:243150
HP:0010448	Colonic atresia	1349	COX7B	OMIM:309801
HP:0010448	Colonic atresia	3052	HCCS	OMIM:309801
HP:0010448	Colonic atresia	54539	NDUFB11	OMIM:309801
HP:0030875	Abnormality of pulmonary circulation	94	ACVRL1	OMIM:600376
HP:0030875	Abnormality of pulmonary circulation	94	ACVRL1	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	4702	NDUFA8	OMIM:619272
HP:0030875	Abnormality of pulmonary circulation	4352	MPL	ORPHA:71493
HP:0030875	Abnormality of pulmonary circulation	7066	THPO	ORPHA:71493
HP:0030875	Abnormality of pulmonary circulation	3717	JAK2	ORPHA:71493
HP:0030875	Abnormality of pulmonary circulation	2294	FOXF1	OMIM:265380
HP:0030875	Abnormality of pulmonary circulation	2294	FOXF1	ORPHA:210122
HP:0030875	Abnormality of pulmonary circulation	4558	MT-TF	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4572	MT-TQ	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4512	MT-CO1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4513	MT-CO2	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4514	MT-CO3	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4578	MT-TW	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4540	MT-ND5	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4541	MT-ND6	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4535	MT-ND1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4538	MT-ND4	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4567	MT-TL1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4574	MT-TS1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4575	MT-TS2	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4564	MT-TH	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	7428	VHL	OMIM:263400
HP:0030875	Abnormality of pulmonary circulation	79717	PPCS	OMIM:618189
HP:0030875	Abnormality of pulmonary circulation	776	CACNA1D	OMIM:615474
HP:0030875	Abnormality of pulmonary circulation	776	CACNA1D	ORPHA:369929
HP:0030875	Abnormality of pulmonary circulation	498	ATP5F1A	OMIM:616045
HP:0030875	Abnormality of pulmonary circulation	775	CACNA1C	OMIM:620029
HP:0030875	Abnormality of pulmonary circulation	775	CACNA1C	OMIM:601005
HP:0030875	Abnormality of pulmonary circulation	81857	MED25	OMIM:616449
HP:0030875	Abnormality of pulmonary circulation	81857	MED25	ORPHA:464738
HP:0030875	Abnormality of pulmonary circulation	3875	KRT18	OMIM:215600
HP:0030875	Abnormality of pulmonary circulation	8854	ALDH1A2	OMIM:620025
HP:0030875	Abnormality of pulmonary circulation	1277	COL1A1	OMIM:259420
HP:0030875	Abnormality of pulmonary circulation	1278	COL1A2	OMIM:259420
HP:0030875	Abnormality of pulmonary circulation	1235	CCR6	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1235	CCR6	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	79932	KIAA0319L	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1490	CCN2	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1490	CCN2	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	3663	IRF5	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	3663	IRF5	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	3123	HLA-DRB1	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	3123	HLA-DRB1	OMIM:181000
HP:0030875	Abnormality of pulmonary circulation	3123	HLA-DRB1	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	411	ARSB	OMIM:253200
HP:0030875	Abnormality of pulmonary circulation	10312	TCIRG1	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	1186	CLCN7	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	29887	SNX10	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	8600	TNFSF11	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	27125	AFF4	ORPHA:444077
HP:0030875	Abnormality of pulmonary circulation	4784	NFIX	ORPHA:447980
HP:0030875	Abnormality of pulmonary circulation	4784	NFIX	OMIM:602535
HP:0030875	Abnormality of pulmonary circulation	55315	SLC29A3	OMIM:602782
HP:0030875	Abnormality of pulmonary circulation	1349	COX7B	OMIM:300887
HP:0030875	Abnormality of pulmonary circulation	23395	LARS2	OMIM:617021
HP:0030875	Abnormality of pulmonary circulation	6440	SFTPC	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	6440	SFTPC	OMIM:610913
HP:0030875	Abnormality of pulmonary circulation	727897	MUC5B	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	729238	SFTPA2	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	7015	TERT	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	51601	LIPT1	OMIM:616299
HP:0030875	Abnormality of pulmonary circulation	3908	LAMA2	ORPHA:258
HP:0030875	Abnormality of pulmonary circulation	9382	COG1	ORPHA:263508
HP:0030875	Abnormality of pulmonary circulation	6439	SFTPB	OMIM:265120
HP:0030875	Abnormality of pulmonary circulation	6439	SFTPB	ORPHA:217563
HP:0030875	Abnormality of pulmonary circulation	1340	COX6B1	OMIM:619051
HP:0030875	Abnormality of pulmonary circulation	2022	ENG	OMIM:187300
HP:0030875	Abnormality of pulmonary circulation	2022	ENG	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	65082	VPS33A	ORPHA:505248
HP:0030875	Abnormality of pulmonary circulation	1351	COX8A	OMIM:619059
HP:0030875	Abnormality of pulmonary circulation	50619	DEF6	OMIM:619573
HP:0030875	Abnormality of pulmonary circulation	79572	ATP13A3	OMIM:265400
HP:0030875	Abnormality of pulmonary circulation	8260	NAA10	OMIM:300855
HP:0030875	Abnormality of pulmonary circulation	9469	CHST3	OMIM:143095
HP:0030875	Abnormality of pulmonary circulation	9968	MED12	ORPHA:93932
HP:0030875	Abnormality of pulmonary circulation	92579	G6PC3	OMIM:612541
HP:0030875	Abnormality of pulmonary circulation	56244	BTNL2	OMIM:612387
HP:0030875	Abnormality of pulmonary circulation	2260	FGFR1	ORPHA:2396
HP:0030875	Abnormality of pulmonary circulation	3845	KRAS	ORPHA:2396
HP:0030875	Abnormality of pulmonary circulation	7080	NKX2-1	ORPHA:209905
HP:0030875	Abnormality of pulmonary circulation	55750	AGK	OMIM:212350
HP:0030875	Abnormality of pulmonary circulation	9377	COX5A	OMIM:619064
HP:0030875	Abnormality of pulmonary circulation	9496	TBX4	ORPHA:261279
HP:0030875	Abnormality of pulmonary circulation	9896	FIG4	ORPHA:3472
HP:0030875	Abnormality of pulmonary circulation	9896	FIG4	OMIM:216340
HP:0030875	Abnormality of pulmonary circulation	55697	VAC14	ORPHA:3472
HP:0030875	Abnormality of pulmonary circulation	3977	LIFR	OMIM:601559
HP:0030875	Abnormality of pulmonary circulation	659	BMPR2	OMIM:178600
HP:0030875	Abnormality of pulmonary circulation	659	BMPR2	OMIM:265450
HP:0030875	Abnormality of pulmonary circulation	5826	ABCD4	OMIM:614857
HP:0030875	Abnormality of pulmonary circulation	3425	IDUA	OMIM:607015
HP:0030875	Abnormality of pulmonary circulation	4763	NF1	ORPHA:97685
HP:0030875	Abnormality of pulmonary circulation	760	CA2	ORPHA:2785
HP:0030875	Abnormality of pulmonary circulation	10370	CITED2	ORPHA:99105
HP:0030875	Abnormality of pulmonary circulation	10370	CITED2	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	7092	TLL1	ORPHA:99106
HP:0030875	Abnormality of pulmonary circulation	7092	TLL1	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	57057	TBX20	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	4624	MYH6	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	1482	NKX2-5	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	70	ACTC1	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	2626	GATA4	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	2627	GATA6	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	2627	GATA6	OMIM:614475
HP:0030875	Abnormality of pulmonary circulation	7840	ALMS1	ORPHA:64
HP:0030875	Abnormality of pulmonary circulation	6772	STAT1	ORPHA:391487
HP:0030875	Abnormality of pulmonary circulation	10043	TOM1	ORPHA:391487
HP:0030875	Abnormality of pulmonary circulation	3572	IL6ST	OMIM:619751
HP:0030875	Abnormality of pulmonary circulation	2261	FGFR3	OMIM:616482
HP:0030875	Abnormality of pulmonary circulation	10664	CTCF	ORPHA:363611
HP:0030875	Abnormality of pulmonary circulation	10526	IPO8	OMIM:619472
HP:0030875	Abnormality of pulmonary circulation	5167	ENPP1	ORPHA:51608
HP:0030875	Abnormality of pulmonary circulation	368	ABCC6	ORPHA:51608
HP:0030875	Abnormality of pulmonary circulation	2200	FBN1	OMIM:614185
HP:0030875	Abnormality of pulmonary circulation	4607	MYBPC3	OMIM:615396
HP:0030875	Abnormality of pulmonary circulation	7414	VCL	OMIM:613255
HP:0030875	Abnormality of pulmonary circulation	29957	SLC25A24	OMIM:612289
HP:0030875	Abnormality of pulmonary circulation	57514	ARHGAP31	OMIM:100300
HP:0030875	Abnormality of pulmonary circulation	57514	ARHGAP31	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	8085	KMT2D	OMIM:620186
HP:0030875	Abnormality of pulmonary circulation	8517	IKBKG	ORPHA:464
HP:0030875	Abnormality of pulmonary circulation	4000	LMNA	ORPHA:740
HP:0030875	Abnormality of pulmonary circulation	10269	ZMPSTE24	ORPHA:740
HP:0030875	Abnormality of pulmonary circulation	23556	PIGN	ORPHA:280633
HP:0030875	Abnormality of pulmonary circulation	3043	HBB	ORPHA:231222
HP:0030875	Abnormality of pulmonary circulation	4716	NDUFB10	OMIM:619003
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	OMIM:230800
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:2072
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:77261
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:77259
HP:0030875	Abnormality of pulmonary circulation	374879	ZNF699	OMIM:619488
HP:0030875	Abnormality of pulmonary circulation	27086	FOXP1	ORPHA:391372
HP:0030875	Abnormality of pulmonary circulation	4256	MGP	ORPHA:85202
HP:0030875	Abnormality of pulmonary circulation	50485	SMARCAL1	ORPHA:1830
HP:0030875	Abnormality of pulmonary circulation	50485	SMARCAL1	OMIM:242900
HP:0030875	Abnormality of pulmonary circulation	8292	COLQ	ORPHA:98915
HP:0030875	Abnormality of pulmonary circulation	3913	LAMB2	ORPHA:98915
HP:0030875	Abnormality of pulmonary circulation	4625	MYH7	OMIM:613426
HP:0030875	Abnormality of pulmonary circulation	388015	RTL1	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	8788	DLK1	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	55384	MEG3	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	10551	AGR2	OMIM:620233
HP:0030875	Abnormality of pulmonary circulation	3516	RBPJ	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	4851	NOTCH1	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	4851	NOTCH1	OMIM:616028
HP:0030875	Abnormality of pulmonary circulation	57572	DOCK6	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	285203	EOGT	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	54567	DLL4	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	2658	GDF2	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	4089	SMAD4	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	6123	RPL3L	OMIM:619371
HP:0030875	Abnormality of pulmonary circulation	79989	IFT56	OMIM:619534
HP:0030875	Abnormality of pulmonary circulation	8815	BANF1	OMIM:614008
HP:0030875	Abnormality of pulmonary circulation	5236	PGM1	OMIM:614921
HP:0030875	Abnormality of pulmonary circulation	25974	MMACHC	ORPHA:79282
HP:0030875	Abnormality of pulmonary circulation	5557	PRIM1	OMIM:620005
HP:0030875	Abnormality of pulmonary circulation	59	ACTA2	OMIM:613834
HP:0030875	Abnormality of pulmonary circulation	3593	IL12B	ORPHA:3287
HP:0030875	Abnormality of pulmonary circulation	3106	HLA-B	ORPHA:3287
HP:0030875	Abnormality of pulmonary circulation	6945	MLX	ORPHA:3287
HP:0030875	Abnormality of pulmonary circulation	64127	NOD2	ORPHA:90340
HP:0030875	Abnormality of pulmonary circulation	55901	THSD1	OMIM:620244
HP:0030875	Abnormality of pulmonary circulation	3339	HSPG2	ORPHA:800
HP:0030875	Abnormality of pulmonary circulation	27247	NFU1	OMIM:605711
HP:0030875	Abnormality of pulmonary circulation	8295	TRRAP	OMIM:618454
HP:0030875	Abnormality of pulmonary circulation	93233	ODAD1	OMIM:615067
HP:0030875	Abnormality of pulmonary circulation	4093	SMAD9	OMIM:615342
HP:0030875	Abnormality of pulmonary circulation	51025	PAM16	OMIM:613320
HP:0030875	Abnormality of pulmonary circulation	2316	FLNA	OMIM:309350
HP:0030875	Abnormality of pulmonary circulation	23590	PDSS1	OMIM:614651
HP:0030875	Abnormality of pulmonary circulation	7319	UBE2A	ORPHA:163956
HP:0030875	Abnormality of pulmonary circulation	54938	SARS2	OMIM:613845
HP:0030875	Abnormality of pulmonary circulation	389827	MYMK	OMIM:254940
HP:0030875	Abnormality of pulmonary circulation	950	SCARB2	ORPHA:77259
HP:0030875	Abnormality of pulmonary circulation	875	CBS	ORPHA:394
HP:0030875	Abnormality of pulmonary circulation	6005	RHAG	OMIM:185000
HP:0030875	Abnormality of pulmonary circulation	2162	F13A1	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	2147	F2	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	3026	HABP2	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	4524	MTHFR	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	7056	THBD	OMIM:614486
HP:0030875	Abnormality of pulmonary circulation	54790	TET2	ORPHA:729
HP:0030875	Abnormality of pulmonary circulation	462	SERPINC1	OMIM:613118
HP:0030875	Abnormality of pulmonary circulation	462	SERPINC1	ORPHA:82
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	OMIM:612304
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	ORPHA:745
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	OMIM:176860
HP:0030875	Abnormality of pulmonary circulation	55109	AGGF1	ORPHA:90308
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	ORPHA:743
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	OMIM:614514
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	OMIM:612336
HP:0030875	Abnormality of pulmonary circulation	2776	GNAQ	ORPHA:624
HP:0030875	Abnormality of pulmonary circulation	2776	GNAQ	ORPHA:3205
HP:0030875	Abnormality of pulmonary circulation	5728	PTEN	ORPHA:744
HP:0030875	Abnormality of pulmonary circulation	207	AKT1	ORPHA:744
HP:0030875	Abnormality of pulmonary circulation	5277	PIGA	ORPHA:447
HP:0030875	Abnormality of pulmonary circulation	5354	PLP1	ORPHA:99015
HP:0030875	Abnormality of pulmonary circulation	1604	CD55	OMIM:226300
HP:0030875	Abnormality of pulmonary circulation	3762	KCNJ5	OMIM:613485
HP:0030875	Abnormality of pulmonary circulation	2157	F8	OMIM:301071
HP:0030875	Abnormality of pulmonary circulation	149233	IL23R	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	6775	STAT4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3586	IL10	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	4210	MEFV	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	1230	CCR1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	355	FAS	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3592	IL12A	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	101928376	IL12A-AS1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	7099	TLR4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3459	IFNGR1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	720	C4A	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	337867	UBAC2	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	51752	ERAP1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	8302	KLRC4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3777	KCNK3	OMIM:615344
HP:0030875	Abnormality of pulmonary circulation	440275	EIF2AK4	ORPHA:199241
HP:0030875	Abnormality of pulmonary circulation	4629	MYH11	OMIM:619351
HP:0030875	Abnormality of pulmonary circulation	857	CAV1	OMIM:615343
HP:0030875	Abnormality of pulmonary circulation	10568	SLC34A2	ORPHA:60025
HP:0030875	Abnormality of pulmonary circulation	84665	MYPN	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	2318	FLNC	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	7139	TNNT2	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	7137	TNNI3	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	10112	KIF20A	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	6521	SLC4A1	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	9780	PIEZO1	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	3783	KCNN4	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	2542	SLC37A4	ORPHA:79259
HP:0030874	Oxygen desaturation on exertion	10568	SLC34A2	ORPHA:60025
HP:0030874	Oxygen desaturation on exertion	7080	NKX2-1	OMIM:610978
HP:0030879	Interlobular septal thickening	6439	SFTPB	OMIM:265120
HP:0030879	Interlobular septal thickening	659	BMPR2	OMIM:265450
HP:0030879	Interlobular septal thickening	440275	EIF2AK4	ORPHA:199241
HP:0030879	Interlobular septal thickening	1439	CSF2RB	OMIM:614370
HP:0030879	Interlobular septal thickening	10568	SLC34A2	ORPHA:60025
HP:0030879	Interlobular septal thickening	653509	SFTPA1	OMIM:619611
HP:0030877	Reduced FEV1/FVC ratio	3115	HLA-DPB1	ORPHA:133
HP:0030877	Reduced FEV1/FVC ratio	8701	DNAH11	OMIM:611884
HP:0030877	Reduced FEV1/FVC ratio	2022	ENG	OMIM:187300
HP:0030877	Reduced FEV1/FVC ratio	6340	SCNN1G	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	1080	CFTR	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	6337	SCNN1A	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	6338	SCNN1B	ORPHA:60033
HP:0030880	Raynaud phenomenon	54	ACP5	OMIM:607944
HP:0030880	Raynaud phenomenon	54	ACP5	ORPHA:1855
HP:0030880	Raynaud phenomenon	54941	RNF125	OMIM:616260
HP:0030880	Raynaud phenomenon	3930	LBR	OMIM:613471
HP:0030880	Raynaud phenomenon	2982	GUCY1A1	OMIM:615750
HP:0030880	Raynaud phenomenon	2982	GUCY1A1	ORPHA:401945
HP:0030880	Raynaud phenomenon	11277	TREX1	OMIM:192315
HP:0030880	Raynaud phenomenon	11277	TREX1	OMIM:610448
HP:0030880	Raynaud phenomenon	11277	TREX1	ORPHA:247691
HP:0030880	Raynaud phenomenon	11277	TREX1	ORPHA:51
HP:0030880	Raynaud phenomenon	189	AGXT	OMIM:259900
HP:0030880	Raynaud phenomenon	340061	STING1	OMIM:615934
HP:0030880	Raynaud phenomenon	1282	COL4A1	OMIM:611773
HP:0030880	Raynaud phenomenon	27235	COQ2	ORPHA:227510
HP:0030880	Raynaud phenomenon	27235	COQ2	ORPHA:98933
HP:0030880	Raynaud phenomenon	6775	STAT4	ORPHA:93552
HP:0030880	Raynaud phenomenon	6696	SPP1	ORPHA:93552
HP:0030880	Raynaud phenomenon	3654	IRAK1	ORPHA:93552
HP:0030880	Raynaud phenomenon	3265	HRAS	ORPHA:2874
HP:0030880	Raynaud phenomenon	51284	TLR7	OMIM:301080
HP:0030880	Raynaud phenomenon	4000	LMNA	ORPHA:740
HP:0030880	Raynaud phenomenon	10269	ZMPSTE24	ORPHA:740
HP:0030880	Raynaud phenomenon	51816	ADA2	OMIM:615688
HP:0030880	Raynaud phenomenon	10535	RNASEH2A	ORPHA:51
HP:0030880	Raynaud phenomenon	84153	RNASEH2C	ORPHA:51
HP:0030880	Raynaud phenomenon	25939	SAMHD1	ORPHA:51
HP:0030880	Raynaud phenomenon	79621	RNASEH2B	ORPHA:51
HP:0030880	Raynaud phenomenon	103	ADAR	ORPHA:51
HP:0030880	Raynaud phenomenon	100147744	RNU7-1	ORPHA:51
HP:0030880	Raynaud phenomenon	134353	LSM11	ORPHA:51
HP:0030880	Raynaud phenomenon	64135	IFIH1	ORPHA:51
HP:0030880	Raynaud phenomenon	1188	CLCNKB	ORPHA:358
HP:0030880	Raynaud phenomenon	6559	SLC12A3	ORPHA:358
HP:0030882	Coronary artery aneurysm	3949	LDLR	ORPHA:391665
HP:0030882	Coronary artery aneurysm	255738	PCSK9	ORPHA:391665
HP:0030882	Coronary artery aneurysm	26119	LDLRAP1	ORPHA:391665
HP:0030882	Coronary artery aneurysm	338	APOB	ORPHA:391665
HP:0030882	Coronary artery aneurysm	64240	ABCG5	ORPHA:391665
HP:0030882	Coronary artery aneurysm	64241	ABCG8	ORPHA:391665
HP:0030882	Coronary artery aneurysm	5592	PRKG1	OMIM:615436
HP:0030883	Femoroacetabular impingement	2131	EXT1	ORPHA:321
HP:0030883	Femoroacetabular impingement	2132	EXT2	ORPHA:321
HP:0000230	Gingivitis	11285	B4GALT7	ORPHA:75496
HP:0000230	Gingivitis	10804	GJB6	ORPHA:477
HP:0000230	Gingivitis	2706	GJB2	ORPHA:477
HP:0000230	Gingivitis	3689	ITGB2	OMIM:116920
HP:0000230	Gingivitis	7840	ALMS1	ORPHA:64
HP:0000230	Gingivitis	7840	ALMS1	OMIM:203800
HP:0000230	Gingivitis	55612	FERMT1	ORPHA:2908
HP:0000230	Gingivitis	55612	FERMT1	OMIM:173650
HP:0000230	Gingivitis	6774	STAT3	ORPHA:2314
HP:0000230	Gingivitis	340024	SLC6A19	ORPHA:2116
HP:0000230	Gingivitis	57393	CLTRN	ORPHA:2116
HP:0000230	Gingivitis	10379	IRF9	OMIM:618648
HP:0000230	Gingivitis	847	CAT	ORPHA:926
HP:0000230	Gingivitis	9842	PLEKHM1	OMIM:618107
HP:0000230	Gingivitis	959	CD40LG	OMIM:308230
HP:0000230	Gingivitis	5340	PLG	ORPHA:722
HP:0000230	Gingivitis	5340	PLG	OMIM:217090
HP:0000230	Gingivitis	10312	TCIRG1	ORPHA:486
HP:0000230	Gingivitis	1991	ELANE	ORPHA:486
HP:0000230	Gingivitis	1991	ELANE	ORPHA:2686
HP:0000230	Gingivitis	2672	GFI1	ORPHA:486
HP:0000230	Gingivitis	6729	SRP54	ORPHA:486
HP:0000230	Gingivitis	81570	CLPB	ORPHA:486
HP:0000230	Gingivitis	1281	COL3A1	ORPHA:286
HP:0000230	Gingivitis	6785	ELOVL4	OMIM:614457
HP:0000230	Gingivitis	54809	SAMD9	OMIM:610455
HP:0000230	Gingivitis	1130	LYST	OMIM:214500
HP:0000230	Gingivitis	3853	KRT6A	OMIM:615726
HP:0000230	Gingivitis	4952	OCRL	ORPHA:534
HP:0000230	Gingivitis	1536	CYBB	ORPHA:379
HP:0000230	Gingivitis	4688	NCF2	ORPHA:379
HP:0000230	Gingivitis	1535	CYBA	ORPHA:379
HP:0000230	Gingivitis	4689	NCF4	ORPHA:379
HP:0000230	Gingivitis	653361	NCF1	ORPHA:379
HP:0000230	Gingivitis	79415	CYBC1	ORPHA:379
HP:0000230	Gingivitis	2542	SLC37A4	ORPHA:79259
HP:0000230	Gingivitis	1075	CTSC	ORPHA:678
HP:0000234	Abnormality of the head	6948	TCN2	OMIM:275350
HP:0000234	Abnormality of the head	114327	EFHC1	ORPHA:307
HP:0000234	Abnormality of the head	114327	EFHC1	ORPHA:1941
HP:0000234	Abnormality of the head	2554	GABRA1	ORPHA:307
HP:0000234	Abnormality of the head	3786	KCNQ3	ORPHA:307
HP:0000234	Abnormality of the head	8629	JRK	ORPHA:307
HP:0000234	Abnormality of the head	785	CACNB4	ORPHA:307
HP:0000234	Abnormality of the head	9378	NRXN1	OMIM:614325
HP:0000234	Abnormality of the head	5970	RELA	OMIM:618287
HP:0000234	Abnormality of the head	7128	TNFAIP3	OMIM:616744
HP:0000234	Abnormality of the head	6696	SPP1	ORPHA:93552
HP:0000234	Abnormality of the head	3654	IRAK1	ORPHA:93552
HP:0000234	Abnormality of the head	3575	IL7R	OMIM:608971
HP:0000234	Abnormality of the head	3575	IL7R	ORPHA:169154
HP:0000234	Abnormality of the head	51284	TLR7	OMIM:301080
HP:0000234	Abnormality of the head	2000	ELF4	OMIM:301074
HP:0000234	Abnormality of the head	8737	RIPK1	OMIM:618852
HP:0000234	Abnormality of the head	939	CD27	OMIM:615122
HP:0000234	Abnormality of the head	3587	IL10RA	OMIM:613148
HP:0000234	Abnormality of the head	51422	PRKAG2	OMIM:261740
HP:0000234	Abnormality of the head	346171	ZFP57	ORPHA:99886
HP:0000234	Abnormality of the head	112812	FDX2	OMIM:251900
HP:0000234	Abnormality of the head	57570	TRMT5	OMIM:616539
HP:0000234	Abnormality of the head	11107	PRDM5	ORPHA:90354
HP:0000234	Abnormality of the head	23586	RIGI	OMIM:616298
HP:0000234	Abnormality of the head	189	AGXT	ORPHA:93598
HP:0000234	Abnormality of the head	79983	POF1B	OMIM:300604
HP:0000234	Abnormality of the head	4014	LORICRIN	OMIM:604117
HP:0000234	Abnormality of the head	3229	HOXC13	OMIM:614931
HP:0000234	Abnormality of the head	1027	CDKN1B	ORPHA:652
HP:0000234	Abnormality of the head	1026	CDKN1A	ORPHA:652
HP:0000234	Abnormality of the head	1030	CDKN2B	ORPHA:652
HP:0000234	Abnormality of the head	1031	CDKN2C	ORPHA:652
HP:0000234	Abnormality of the head	50619	DEF6	OMIM:619573
HP:0000234	Abnormality of the head	8883	NAE1	OMIM:620210
HP:0000234	Abnormality of the head	124454	EARS2	OMIM:614924
HP:0000234	Abnormality of the head	6399	TRAPPC2	ORPHA:93284
HP:0000234	Abnormality of the head	2625	GATA3	ORPHA:2237
HP:0000234	Abnormality of the head	2122	MECOM	OMIM:616738
HP:0000234	Abnormality of the head	23395	LARS2	OMIM:615300
HP:0000234	Abnormality of the head	367	AR	ORPHA:95706
HP:0000234	Abnormality of the head	3199	HOXA2	OMIM:612290
HP:0000234	Abnormality of the head	93986	FOXP2	ORPHA:209908
HP:0000234	Abnormality of the head	55149	MTPAP	ORPHA:254343
HP:0000234	Abnormality of the head	9524	TECR	OMIM:614020
HP:0000234	Abnormality of the head	1460	CSNK2B	OMIM:618732
HP:0000234	Abnormality of the head	5236	PGM1	OMIM:614921
HP:0000234	Abnormality of the head	81839	VANGL1	ORPHA:3027
HP:0000234	Abnormality of the head	2767	GNA11	ORPHA:1556
HP:0000234	Abnormality of the head	151188	ARL6IP6	ORPHA:1556
HP:0000234	Abnormality of the head	10413	YAP1	OMIM:120433
HP:0000234	Abnormality of the head	4222	MEOX1	OMIM:214300
HP:0000234	Abnormality of the head	11023	VAX1	OMIM:614402
HP:0000234	Abnormality of the head	113235	SLC46A1	ORPHA:90045
HP:0000234	Abnormality of the head	716	C1S	ORPHA:75392
HP:0000234	Abnormality of the head	715	C1R	ORPHA:75392
HP:0000234	Abnormality of the head	54757	FAM20A	OMIM:204690
HP:0000234	Abnormality of the head	54757	FAM20A	ORPHA:1031
HP:0000234	Abnormality of the head	5978	REST	ORPHA:2024
HP:0000234	Abnormality of the head	9071	CLDN10	OMIM:617671
HP:0000234	Abnormality of the head	64834	ELOVL1	OMIM:618527
HP:0000234	Abnormality of the head	25978	CHMP2B	ORPHA:803
HP:0000234	Abnormality of the head	8148	TAF15	ORPHA:803
HP:0000234	Abnormality of the head	5445	PON2	ORPHA:803
HP:0000234	Abnormality of the head	9217	VAPB	ORPHA:803
HP:0000234	Abnormality of the head	5630	PRPH	ORPHA:803
HP:0000234	Abnormality of the head	29110	TBK1	ORPHA:803
HP:0000234	Abnormality of the head	55830	GLT8D1	ORPHA:803
HP:0000234	Abnormality of the head	755	CFAP410	ORPHA:803
HP:0000234	Abnormality of the head	10891	PPARGC1A	ORPHA:803
HP:0000234	Abnormality of the head	6647	SOD1	ORPHA:803
HP:0000234	Abnormality of the head	5444	PON1	ORPHA:803
HP:0000234	Abnormality of the head	5446	PON3	ORPHA:803
HP:0000234	Abnormality of the head	4744	NEFH	ORPHA:803
HP:0000234	Abnormality of the head	5216	PFN1	ORPHA:803
HP:0000234	Abnormality of the head	9782	MATR3	ORPHA:803
HP:0000234	Abnormality of the head	54209	TREM2	ORPHA:803
HP:0000234	Abnormality of the head	283	ANG	ORPHA:803
HP:0000234	Abnormality of the head	23435	TARDBP	ORPHA:803
HP:0000234	Abnormality of the head	29978	UBQLN2	ORPHA:803
HP:0000234	Abnormality of the head	2043	EPHA4	ORPHA:803
HP:0000234	Abnormality of the head	1610	DAO	ORPHA:803
HP:0000234	Abnormality of the head	2066	ERBB4	ORPHA:803
HP:0000234	Abnormality of the head	23025	UNC13A	ORPHA:803
HP:0000234	Abnormality of the head	899	CCNF	ORPHA:803
HP:0000234	Abnormality of the head	1131	CHRM3	OMIM:100100
HP:0000234	Abnormality of the head	1235	CCR6	ORPHA:220393
HP:0000234	Abnormality of the head	1490	CCN2	ORPHA:220393
HP:0000234	Abnormality of the head	3663	IRF5	ORPHA:220393
HP:0000234	Abnormality of the head	23259	DDHD2	OMIM:615033
HP:0000234	Abnormality of the head	23259	DDHD2	ORPHA:320380
HP:0000234	Abnormality of the head	11160	ERLIN2	ORPHA:280384
HP:0000234	Abnormality of the head	11160	ERLIN2	OMIM:611225
HP:0000234	Abnormality of the head	11160	ERLIN2	ORPHA:209951
HP:0000234	Abnormality of the head	51434	ANAPC7	OMIM:619699
HP:0000234	Abnormality of the head	84068	SLC10A7	OMIM:618363
HP:0000234	Abnormality of the head	55687	TRMU	ORPHA:254864
HP:0000234	Abnormality of the head	9325	TRIP4	OMIM:617066
HP:0000234	Abnormality of the head	9325	TRIP4	ORPHA:486815
HP:0000234	Abnormality of the head	9325	TRIP4	OMIM:616866
HP:0000234	Abnormality of the head	65055	REEP1	OMIM:620011
HP:0000234	Abnormality of the head	5784	PTPN14	OMIM:613611
HP:0000234	Abnormality of the head	79875	THSD4	OMIM:619825
HP:0000234	Abnormality of the head	4053	LTBP2	OMIM:251750
HP:0000234	Abnormality of the head	5283	PIGH	OMIM:618010
HP:0000234	Abnormality of the head	84896	ATAD1	OMIM:618011
HP:0000234	Abnormality of the head	84905	ZNF341	OMIM:618282
HP:0000234	Abnormality of the head	84987	COX14	OMIM:619053
HP:0000234	Abnormality of the head	667	DST	OMIM:614653
HP:0000234	Abnormality of the head	9698	PUM1	OMIM:617931
HP:0000234	Abnormality of the head	2335	FN1	ORPHA:93315
HP:0000234	Abnormality of the head	1185	CLCN6	OMIM:619173
HP:0000234	Abnormality of the head	10352	WARS2	ORPHA:572798
HP:0000234	Abnormality of the head	1725	DHPS	OMIM:618480
HP:0000234	Abnormality of the head	4692	NDN	ORPHA:177901
HP:0000234	Abnormality of the head	10551	AGR2	OMIM:620233
HP:0000234	Abnormality of the head	51780	KDM3B	OMIM:618846
HP:0000234	Abnormality of the head	26525	IL36RN	OMIM:614204
HP:0000234	Abnormality of the head	8518	ELP1	OMIM:223900
HP:0000234	Abnormality of the head	2243	FGA	OMIM:202400
HP:0000234	Abnormality of the head	2243	FGA	ORPHA:98880
HP:0000234	Abnormality of the head	2243	FGA	ORPHA:98881
HP:0000234	Abnormality of the head	2243	FGA	ORPHA:101041
HP:0000234	Abnormality of the head	2244	FGB	OMIM:202400
HP:0000234	Abnormality of the head	2244	FGB	ORPHA:98880
HP:0000234	Abnormality of the head	2244	FGB	ORPHA:98881
HP:0000234	Abnormality of the head	2244	FGB	ORPHA:101041
HP:0000234	Abnormality of the head	2266	FGG	OMIM:202400
HP:0000234	Abnormality of the head	2266	FGG	ORPHA:98880
HP:0000234	Abnormality of the head	2266	FGG	ORPHA:98881
HP:0000234	Abnormality of the head	2266	FGG	ORPHA:101041
HP:0000234	Abnormality of the head	10068	IL18BP	OMIM:618549
HP:0000234	Abnormality of the head	3257	HPS1	OMIM:203300
HP:0000234	Abnormality of the head	5345	SERPINF2	ORPHA:79
HP:0000234	Abnormality of the head	388552	BLOC1S3	OMIM:614077
HP:0000234	Abnormality of the head	3998	LMAN1	ORPHA:35909
HP:0000234	Abnormality of the head	90411	MCFD2	ORPHA:35909
HP:0000234	Abnormality of the head	2162	F13A1	OMIM:613225
HP:0000234	Abnormality of the head	2162	F13A1	ORPHA:331
HP:0000234	Abnormality of the head	2165	F13B	ORPHA:331
HP:0000234	Abnormality of the head	9493	KIF23	ORPHA:98870
HP:0000234	Abnormality of the head	29127	RACGAP1	ORPHA:98870
HP:0000234	Abnormality of the head	63915	BLOC1S5	OMIM:619172
HP:0000234	Abnormality of the head	5551	PRF1	ORPHA:88
HP:0000234	Abnormality of the head	2159	F10	OMIM:227600
HP:0000234	Abnormality of the head	2159	F10	ORPHA:328
HP:0000234	Abnormality of the head	2157	F8	ORPHA:169805
HP:0000234	Abnormality of the head	3717	JAK2	ORPHA:729
HP:0000234	Abnormality of the head	54790	TET2	ORPHA:729
HP:0000234	Abnormality of the head	2147	F2	OMIM:613679
HP:0000234	Abnormality of the head	9103	FCGR2C	ORPHA:3002
HP:0000234	Abnormality of the head	2155	F7	ORPHA:327
HP:0000234	Abnormality of the head	2153	F5	ORPHA:326
HP:0000234	Abnormality of the head	950	SCARB2	ORPHA:77259
HP:0000234	Abnormality of the head	3689	ITGB2	OMIM:116920
HP:0000234	Abnormality of the head	340024	SLC6A19	ORPHA:2116
HP:0000234	Abnormality of the head	57393	CLTRN	ORPHA:2116
HP:0000234	Abnormality of the head	847	CAT	ORPHA:926
HP:0000234	Abnormality of the head	2672	GFI1	ORPHA:486
HP:0000234	Abnormality of the head	54809	SAMD9	OMIM:610455
HP:0000234	Abnormality of the head	1075	CTSC	ORPHA:678
HP:0000234	Abnormality of the head	151516	ASPRV1	ORPHA:313
HP:0000234	Abnormality of the head	242	ALOX12B	ORPHA:313
HP:0000234	Abnormality of the head	242	ALOX12B	OMIM:242100
HP:0000234	Abnormality of the head	126410	CYP4F22	ORPHA:313
HP:0000234	Abnormality of the head	6820	SULT2B1	ORPHA:313
HP:0000234	Abnormality of the head	643418	LIPN	ORPHA:313
HP:0000234	Abnormality of the head	348938	NIPAL4	ORPHA:313
HP:0000234	Abnormality of the head	121214	SDR9C7	ORPHA:313
HP:0000234	Abnormality of the head	65992	DDRGK1	OMIM:602557
HP:0000234	Abnormality of the head	2735	GLI1	ORPHA:289
HP:0000234	Abnormality of the head	79577	CDC73	OMIM:145001
HP:0000234	Abnormality of the head	23114	NFASC	OMIM:618356
HP:0000234	Abnormality of the head	60386	SLC25A19	OMIM:607196
HP:0000234	Abnormality of the head	3975	LHX1	ORPHA:261265
HP:0000234	Abnormality of the head	6928	HNF1B	ORPHA:261265
HP:0000234	Abnormality of the head	79053	ALG8	OMIM:608104
HP:0000234	Abnormality of the head	56052	ALG1	OMIM:608540
HP:0000234	Abnormality of the head	23229	ARHGEF9	ORPHA:163985
HP:0000234	Abnormality of the head	23229	ARHGEF9	OMIM:300607
HP:0000234	Abnormality of the head	84823	LMNB2	OMIM:619180
HP:0000234	Abnormality of the head	100	ADA	ORPHA:277
HP:0000234	Abnormality of the head	100	ADA	OMIM:102700
HP:0000234	Abnormality of the head	4860	PNP	OMIM:613179
HP:0000234	Abnormality of the head	3561	IL2RG	OMIM:312863
HP:0000234	Abnormality of the head	1536	CYBB	ORPHA:379
HP:0000234	Abnormality of the head	4688	NCF2	ORPHA:379
HP:0000234	Abnormality of the head	1535	CYBA	ORPHA:379
HP:0000234	Abnormality of the head	4689	NCF4	ORPHA:379
HP:0000234	Abnormality of the head	79415	CYBC1	ORPHA:379
HP:0000234	Abnormality of the head	51119	SBDS	ORPHA:811
HP:0000234	Abnormality of the head	6729	SRP54	ORPHA:811
HP:0000234	Abnormality of the head	695	BTK	ORPHA:47
HP:0000234	Abnormality of the head	695	BTK	OMIM:307200
HP:0000234	Abnormality of the head	5994	RFXAP	ORPHA:572
HP:0000234	Abnormality of the head	4261	CIITA	ORPHA:572
HP:0000234	Abnormality of the head	5993	RFX5	ORPHA:572
HP:0000234	Abnormality of the head	8625	RFXANK	ORPHA:572
HP:0000234	Abnormality of the head	3394	IRF8	OMIM:226990
HP:0000234	Abnormality of the head	7852	CXCR4	ORPHA:51636
HP:0000234	Abnormality of the head	54476	RNF216	ORPHA:1173
HP:0000234	Abnormality of the head	60681	FKBP10	OMIM:610968
HP:0000234	Abnormality of the head	23495	TNFRSF13B	ORPHA:1572
HP:0000234	Abnormality of the head	4790	NFKB1	ORPHA:1572
HP:0000234	Abnormality of the head	115650	TNFRSF13C	ORPHA:1572
HP:0000234	Abnormality of the head	1380	CR2	ORPHA:1572
HP:0000234	Abnormality of the head	8742	TNFSF12	ORPHA:1572
HP:0000234	Abnormality of the head	5580	PRKCD	ORPHA:1572
HP:0000234	Abnormality of the head	930	CD19	ORPHA:1572
HP:0000234	Abnormality of the head	29851	ICOS	ORPHA:1572
HP:0000234	Abnormality of the head	931	MS4A1	ORPHA:1572
HP:0000234	Abnormality of the head	975	CD81	ORPHA:1572
HP:0000234	Abnormality of the head	10771	ZMYND11	OMIM:616083
HP:0000234	Abnormality of the head	51399	TRAPPC4	OMIM:618741
HP:0000234	Abnormality of the head	51569	UFM1	OMIM:617899
HP:0000234	Abnormality of the head	166378	AFG2A	OMIM:616577
HP:0000234	Abnormality of the head	84520	GON7	OMIM:619603
HP:0000234	Abnormality of the head	79693	YRDC	OMIM:619609
HP:0000234	Abnormality of the head	6884	TAF13	OMIM:617432
HP:0000234	Abnormality of the head	6884	TAF13	ORPHA:2512
HP:0000234	Abnormality of the head	10111	RAD50	OMIM:613078
HP:0000234	Abnormality of the head	55131	RBM28	ORPHA:157954
HP:0000234	Abnormality of the head	55131	RBM28	OMIM:612079
HP:0000234	Abnormality of the head	55621	TRMT1	OMIM:618302
HP:0000234	Abnormality of the head	6305	SBF1	OMIM:615284
HP:0000234	Abnormality of the head	3800	KIF5C	OMIM:615282
HP:0000234	Abnormality of the head	2232	FDXR	ORPHA:543470
HP:0000234	Abnormality of the head	2904	GRIN2B	OMIM:616139
HP:0000234	Abnormality of the head	2904	GRIN2B	OMIM:613970
HP:0000234	Abnormality of the head	5917	RARS1	OMIM:616140
HP:0000234	Abnormality of the head	5917	RARS1	ORPHA:438114
HP:0000234	Abnormality of the head	54916	TMEM260	OMIM:617478
HP:0000234	Abnormality of the head	120	ADD3	OMIM:617008
HP:0000234	Abnormality of the head	3155	HMGCL	ORPHA:20
HP:0000234	Abnormality of the head	3155	HMGCL	OMIM:246450
HP:0000234	Abnormality of the head	154881	KCTD7	OMIM:611726
HP:0000234	Abnormality of the head	154881	KCTD7	ORPHA:263516
HP:0000234	Abnormality of the head	3054	HCFC1	OMIM:309541
HP:0000234	Abnormality of the head	2019	EN1	OMIM:619218
HP:0000234	Abnormality of the head	3431	SP110	OMIM:235550
HP:0000234	Abnormality of the head	3431	SP110	ORPHA:79124
HP:0000234	Abnormality of the head	51608	GET4	OMIM:620200
HP:0000234	Abnormality of the head	8802	SUCLG1	ORPHA:17
HP:0000234	Abnormality of the head	2707	GJB3	ORPHA:317
HP:0000234	Abnormality of the head	2531	KDSR	ORPHA:317
HP:0000234	Abnormality of the head	127534	GJB4	ORPHA:317
HP:0000234	Abnormality of the head	3028	HSD17B10	ORPHA:391428
HP:0000234	Abnormality of the head	84265	POLR3GL	OMIM:619234
HP:0000234	Abnormality of the head	8452	CUL3	OMIM:619239
HP:0000234	Abnormality of the head	55640	FLVCR2	OMIM:225790
HP:0000234	Abnormality of the head	201595	STT3B	ORPHA:370924
HP:0000234	Abnormality of the head	201595	STT3B	OMIM:615597
HP:0000234	Abnormality of the head	10436	EMG1	OMIM:211180
HP:0000234	Abnormality of the head	10436	EMG1	ORPHA:1270
HP:0000234	Abnormality of the head	6748	SSR4	ORPHA:370927
HP:0000234	Abnormality of the head	6748	SSR4	OMIM:300934
HP:0000234	Abnormality of the head	1315	COPB1	OMIM:619255
HP:0000234	Abnormality of the head	81615	TMEM163	OMIM:620243
HP:0000234	Abnormality of the head	116150	NUS1	OMIM:617082
HP:0000234	Abnormality of the head	116150	NUS1	ORPHA:442835
HP:0000234	Abnormality of the head	64374	SIL1	OMIM:248800
HP:0000234	Abnormality of the head	64374	SIL1	ORPHA:559
HP:0000234	Abnormality of the head	26960	NBEA	OMIM:619157
HP:0000234	Abnormality of the head	781	CACNA2D1	OMIM:620149
HP:0000234	Abnormality of the head	781	CACNA2D1	ORPHA:442835
HP:0000234	Abnormality of the head	10093	ARPC4	OMIM:620141
HP:0000234	Abnormality of the head	9640	ZNF592	ORPHA:83472
HP:0000234	Abnormality of the head	224	ALDH3A2	ORPHA:816
HP:0000234	Abnormality of the head	3242	HPD	OMIM:140350
HP:0000234	Abnormality of the head	338657	CENATAC	OMIM:620153
HP:0000234	Abnormality of the head	1738	DLD	ORPHA:2394
HP:0000234	Abnormality of the head	1738	DLD	OMIM:246900
HP:0000234	Abnormality of the head	92579	G6PC3	OMIM:612541
HP:0000234	Abnormality of the head	63894	VIPAS39	OMIM:613404
HP:0000234	Abnormality of the head	84947	SERAC1	OMIM:614739
HP:0000234	Abnormality of the head	1737	DLAT	OMIM:245348
HP:0000234	Abnormality of the head	1737	DLAT	ORPHA:79244
HP:0000234	Abnormality of the head	51567	TDP2	OMIM:616949
HP:0000234	Abnormality of the head	9276	COPB2	OMIM:617800
HP:0000234	Abnormality of the head	9276	COPB2	OMIM:619884
HP:0000234	Abnormality of the head	9276	COPB2	ORPHA:2512
HP:0000234	Abnormality of the head	3097	HIVEP2	OMIM:616977
HP:0000234	Abnormality of the head	9837	GINS1	OMIM:617827
HP:0000234	Abnormality of the head	79840	NHEJ1	ORPHA:169079
HP:0000234	Abnormality of the head	26227	PHGDH	ORPHA:79351
HP:0000234	Abnormality of the head	6697	SPR	ORPHA:70594
HP:0000234	Abnormality of the head	6697	SPR	OMIM:612716
HP:0000234	Abnormality of the head	953	ENTPD1	OMIM:615683
HP:0000234	Abnormality of the head	953	ENTPD1	ORPHA:401810
HP:0000234	Abnormality of the head	54802	TRIT1	OMIM:617873
HP:0000234	Abnormality of the head	55733	HHAT	ORPHA:1422
HP:0000234	Abnormality of the head	55733	HHAT	OMIM:600092
HP:0000234	Abnormality of the head	84700	MYO18B	OMIM:616549
HP:0000234	Abnormality of the head	8086	AAAS	OMIM:231550
HP:0000234	Abnormality of the head	8086	AAAS	ORPHA:869
HP:0000234	Abnormality of the head	51075	TMX2	OMIM:618730
HP:0000234	Abnormality of the head	51763	INPP5K	OMIM:617404
HP:0000234	Abnormality of the head	51763	INPP5K	ORPHA:559
HP:0000234	Abnormality of the head	6873	TAF2	OMIM:615599
HP:0000234	Abnormality of the head	10559	SLC35A1	OMIM:603585
HP:0000234	Abnormality of the head	80153	EDC3	OMIM:616460
HP:0000234	Abnormality of the head	91869	RFT1	ORPHA:244310
HP:0000234	Abnormality of the head	91869	RFT1	OMIM:612015
HP:0000234	Abnormality of the head	9213	XPR1	ORPHA:1980
HP:0000234	Abnormality of the head	57462	MYORG	ORPHA:1980
HP:0000234	Abnormality of the head	58494	JAM2	ORPHA:1980
HP:0000234	Abnormality of the head	3737	KCNA2	ORPHA:442835
HP:0000234	Abnormality of the head	10991	SLC38A3	ORPHA:442835
HP:0000234	Abnormality of the head	10991	SLC38A3	OMIM:619881
HP:0000234	Abnormality of the head	51343	FZR1	ORPHA:442835
HP:0000234	Abnormality of the head	22906	TRAK1	ORPHA:442835
HP:0000234	Abnormality of the head	22906	TRAK1	OMIM:618201
HP:0000234	Abnormality of the head	2566	GABRG2	ORPHA:442835
HP:0000234	Abnormality of the head	2561	GABRB2	ORPHA:442835
HP:0000234	Abnormality of the head	7532	YWHAG	ORPHA:442835
HP:0000234	Abnormality of the head	2558	GABRA5	ORPHA:442835
HP:0000234	Abnormality of the head	2906	GRIN2D	ORPHA:442835
HP:0000234	Abnormality of the head	2906	GRIN2D	OMIM:617162
HP:0000234	Abnormality of the head	10659	CELF2	ORPHA:442835
HP:0000234	Abnormality of the head	774	CACNA1B	ORPHA:442835
HP:0000234	Abnormality of the head	1213	CLTC	ORPHA:442835
HP:0000234	Abnormality of the head	23334	SZT2	ORPHA:442835
HP:0000234	Abnormality of the head	51412	ACTL6B	ORPHA:442835
HP:0000234	Abnormality of the head	51412	ACTL6B	OMIM:618468
HP:0000234	Abnormality of the head	51412	ACTL6B	OMIM:618470
HP:0000234	Abnormality of the head	348980	HCN1	ORPHA:442835
HP:0000234	Abnormality of the head	348980	HCN1	OMIM:618482
HP:0000234	Abnormality of the head	6506	SLC1A2	ORPHA:442835
HP:0000234	Abnormality of the head	6506	SLC1A2	OMIM:617105
HP:0000234	Abnormality of the head	2258	FGF13	ORPHA:442835
HP:0000234	Abnormality of the head	3745	KCNB1	ORPHA:442835
HP:0000234	Abnormality of the head	284111	SLC13A5	ORPHA:442835
HP:0000234	Abnormality of the head	284111	SLC13A5	OMIM:615905
HP:0000234	Abnormality of the head	25977	NECAP1	ORPHA:442835
HP:0000234	Abnormality of the head	22866	CNKSR2	ORPHA:442835
HP:0000234	Abnormality of the head	2555	GABRA2	ORPHA:442835
HP:0000234	Abnormality of the head	2555	GABRA2	OMIM:618557
HP:0000234	Abnormality of the head	55152	DALRD3	ORPHA:442835
HP:0000234	Abnormality of the head	55152	DALRD3	OMIM:618910
HP:0000234	Abnormality of the head	4915	NTRK2	ORPHA:442835
HP:0000234	Abnormality of the head	64801	ARV1	ORPHA:442835
HP:0000234	Abnormality of the head	79947	DHDDS	ORPHA:442835
HP:0000234	Abnormality of the head	2257	FGF12	ORPHA:442835
HP:0000234	Abnormality of the head	7862	BRPF1	OMIM:617333
HP:0000234	Abnormality of the head	7385	UQCRC2	OMIM:615160
HP:0000234	Abnormality of the head	9922	IQSEC1	OMIM:618687
HP:0000234	Abnormality of the head	29893	PSMC3IP	ORPHA:243
HP:0000234	Abnormality of the head	171568	POLR3H	ORPHA:243
HP:0000234	Abnormality of the head	2516	NR5A1	ORPHA:243
HP:0000234	Abnormality of the head	125150	ZSWIM7	ORPHA:243
HP:0000234	Abnormality of the head	9210	BMP15	ORPHA:243
HP:0000234	Abnormality of the head	23514	SPIDR	ORPHA:243
HP:0000234	Abnormality of the head	2492	FSHR	ORPHA:243
HP:0000234	Abnormality of the head	646	BNC1	ORPHA:243
HP:0000234	Abnormality of the head	133686	NADK2	OMIM:616034
HP:0000234	Abnormality of the head	133686	NADK2	ORPHA:431361
HP:0000234	Abnormality of the head	498	ATP5F1A	OMIM:616045
HP:0000234	Abnormality of the head	4729	NDUFV2	OMIM:618229
HP:0000234	Abnormality of the head	4729	NDUFV2	ORPHA:2609
HP:0000234	Abnormality of the head	4695	NDUFA2	OMIM:618235
HP:0000234	Abnormality of the head	11274	USP18	OMIM:617397
HP:0000234	Abnormality of the head	2898	GRIK2	OMIM:619580
HP:0000234	Abnormality of the head	55526	DHTKD1	OMIM:204750
HP:0000234	Abnormality of the head	90522	YIF1B	OMIM:619125
HP:0000234	Abnormality of the head	55755	CDK5RAP2	OMIM:604804
HP:0000234	Abnormality of the head	55755	CDK5RAP2	ORPHA:2512
HP:0000234	Abnormality of the head	90416	CCDC32	OMIM:619123
HP:0000234	Abnormality of the head	3739	KCNA4	OMIM:618284
HP:0000234	Abnormality of the head	3735	KARS1	OMIM:619147
HP:0000234	Abnormality of the head	8665	EIF3F	OMIM:618295
HP:0000234	Abnormality of the head	221692	PHACTR1	OMIM:618298
HP:0000234	Abnormality of the head	10134	BCAP31	OMIM:300475
HP:0000234	Abnormality of the head	10134	BCAP31	ORPHA:369939
HP:0000234	Abnormality of the head	7109	TRAPPC10	OMIM:620027
HP:0000234	Abnormality of the head	7109	TRAPPC10	ORPHA:2512
HP:0000234	Abnormality of the head	55325	UFSP2	OMIM:620028
HP:0000234	Abnormality of the head	1119	CHKA	OMIM:620023
HP:0000234	Abnormality of the head	5111	PCNA	OMIM:615919
HP:0000234	Abnormality of the head	5111	PCNA	ORPHA:438134
HP:0000234	Abnormality of the head	57176	VARS2	OMIM:615917
HP:0000234	Abnormality of the head	5689	PSMB1	OMIM:620038
HP:0000234	Abnormality of the head	1351	COX8A	OMIM:619059
HP:0000234	Abnormality of the head	100131801	PET100	OMIM:619055
HP:0000234	Abnormality of the head	83475	DOHH	OMIM:620066
HP:0000234	Abnormality of the head	5591	PRKDC	OMIM:615966
HP:0000234	Abnormality of the head	25828	TXN2	OMIM:616811
HP:0000234	Abnormality of the head	197322	ACSF3	ORPHA:289504
HP:0000234	Abnormality of the head	63925	ZNF335	ORPHA:329228
HP:0000234	Abnormality of the head	1828	DSG1	OMIM:615508
HP:0000234	Abnormality of the head	549	AUH	ORPHA:67046
HP:0000234	Abnormality of the head	6301	SARS1	OMIM:617709
HP:0000234	Abnormality of the head	55997	CFC1	OMIM:605376
HP:0000234	Abnormality of the head	26224	FBXL3	OMIM:606220
HP:0000234	Abnormality of the head	80185	TTI2	OMIM:615541
HP:0000234	Abnormality of the head	80185	TTI2	ORPHA:391307
HP:0000234	Abnormality of the head	23443	SLC35A3	OMIM:615553
HP:0000234	Abnormality of the head	54805	CNNM2	OMIM:616418
HP:0000234	Abnormality of the head	1376	CPT2	OMIM:608836
HP:0000234	Abnormality of the head	9439	MED23	OMIM:614249
HP:0000234	Abnormality of the head	6777	STAT5B	OMIM:618985
HP:0000234	Abnormality of the head	23498	HAAO	OMIM:617660
HP:0000234	Abnormality of the head	387787	LIPT2	OMIM:617668
HP:0000234	Abnormality of the head	3149	HMGB3	OMIM:300915
HP:0000234	Abnormality of the head	51112	TRAPPC12	OMIM:617669
HP:0000234	Abnormality of the head	284403	WDR62	OMIM:604317
HP:0000234	Abnormality of the head	284403	WDR62	ORPHA:2512
HP:0000234	Abnormality of the head	23250	ATP11A	OMIM:619851
HP:0000234	Abnormality of the head	1716	DGUOK	OMIM:251880
HP:0000234	Abnormality of the head	788	SLC25A20	ORPHA:159
HP:0000234	Abnormality of the head	55773	TBC1D23	OMIM:617695
HP:0000234	Abnormality of the head	116115	ZNF526	OMIM:619877
HP:0000234	Abnormality of the head	3798	KIF5A	OMIM:617235
HP:0000234	Abnormality of the head	165918	RNF168	OMIM:611943
HP:0000234	Abnormality of the head	165918	RNF168	ORPHA:420741
HP:0000234	Abnormality of the head	84894	LINGO1	OMIM:618103
HP:0000234	Abnormality of the head	123606	NIPA1	ORPHA:261183
HP:0000234	Abnormality of the head	7283	TUBG1	ORPHA:261183
HP:0000234	Abnormality of the head	7283	TUBG1	OMIM:615412
HP:0000234	Abnormality of the head	81614	NIPA2	ORPHA:261183
HP:0000234	Abnormality of the head	3778	KCNMA1	OMIM:618596
HP:0000234	Abnormality of the head	112939	NACC1	ORPHA:500545
HP:0000234	Abnormality of the head	27341	RRP7A	OMIM:619453
HP:0000234	Abnormality of the head	6821	SUOX	OMIM:272300
HP:0000234	Abnormality of the head	92949	ADAMTSL1	ORPHA:521445
HP:0000234	Abnormality of the head	84065	TMEM222	OMIM:619470
HP:0000234	Abnormality of the head	60676	PAPPA2	OMIM:619489
HP:0000234	Abnormality of the head	7284	TUFM	OMIM:610678
HP:0000234	Abnormality of the head	407975	MIR17HG	ORPHA:391646
HP:0000234	Abnormality of the head	63899	NSUN3	OMIM:619012
HP:0000234	Abnormality of the head	54936	ADPRS	OMIM:618170
HP:0000234	Abnormality of the head	64432	MRPS25	OMIM:619025
HP:0000234	Abnormality of the head	8270	LAGE3	ORPHA:2065
HP:0000234	Abnormality of the head	123263	MTFMT	OMIM:614947
HP:0000234	Abnormality of the head	4552	MTRR	ORPHA:2169
HP:0000234	Abnormality of the head	57582	KCNT1	OMIM:614959
HP:0000234	Abnormality of the head	1509	CTSD	OMIM:610127
HP:0000234	Abnormality of the head	23325	WASHC4	OMIM:615817
HP:0000234	Abnormality of the head	57531	HACE1	ORPHA:464282
HP:0000234	Abnormality of the head	57531	HACE1	OMIM:616756
HP:0000234	Abnormality of the head	7156	TOP3A	OMIM:618097
HP:0000234	Abnormality of the head	10056	FARSB	OMIM:613658
HP:0000234	Abnormality of the head	219285	SAMD9L	ORPHA:2585
HP:0000234	Abnormality of the head	27238	GPKOW	ORPHA:2570
HP:0000234	Abnormality of the head	3176	HNMT	OMIM:616739
HP:0000234	Abnormality of the head	3796	KIF2A	OMIM:615411
HP:0000234	Abnormality of the head	1911	PHC1	OMIM:615414
HP:0000234	Abnormality of the head	1911	PHC1	ORPHA:2512
HP:0000234	Abnormality of the head	100506658	OCLN	ORPHA:1229
HP:0000234	Abnormality of the head	100506658	OCLN	OMIM:251290
HP:0000234	Abnormality of the head	81689	ISCA1	OMIM:617613
HP:0000234	Abnormality of the head	64857	PLEKHG2	OMIM:616763
HP:0000234	Abnormality of the head	7343	UBTF	ORPHA:500180
HP:0000234	Abnormality of the head	60528	ELAC2	OMIM:615440
HP:0000234	Abnormality of the head	28957	MRPS28	OMIM:618958
HP:0000234	Abnormality of the head	259266	ASPM	OMIM:608716
HP:0000234	Abnormality of the head	259266	ASPM	ORPHA:2512
HP:0000234	Abnormality of the head	7991	TUSC3	OMIM:611093
HP:0000234	Abnormality of the head	1804	DPP6	ORPHA:2514
HP:0000234	Abnormality of the head	1804	DPP6	OMIM:616311
HP:0000234	Abnormality of the head	8192	CLPP	OMIM:614129
HP:0000234	Abnormality of the head	9928	KIF14	ORPHA:2512
HP:0000234	Abnormality of the head	9928	KIF14	OMIM:616258
HP:0000234	Abnormality of the head	9928	KIF14	OMIM:617914
HP:0000234	Abnormality of the head	55262	TRAPPC14	ORPHA:2512
HP:0000234	Abnormality of the head	163786	SASS6	ORPHA:2512
HP:0000234	Abnormality of the head	4176	MCM7	ORPHA:2512
HP:0000234	Abnormality of the head	80254	CEP63	ORPHA:2512
HP:0000234	Abnormality of the head	23310	NCAPD3	ORPHA:2512
HP:0000234	Abnormality of the head	23310	NCAPD3	OMIM:617984
HP:0000234	Abnormality of the head	79648	MCPH1	ORPHA:2512
HP:0000234	Abnormality of the head	23141	ANKLE2	ORPHA:2512
HP:0000234	Abnormality of the head	57082	KNL1	ORPHA:2512
HP:0000234	Abnormality of the head	1021	CDK6	ORPHA:2512
HP:0000234	Abnormality of the head	10749	KIF1C	ORPHA:397946
HP:0000234	Abnormality of the head	51103	NDUFAF1	ORPHA:2609
HP:0000234	Abnormality of the head	91942	NDUFAF2	ORPHA:2609
HP:0000234	Abnormality of the head	4716	NDUFB10	ORPHA:2609
HP:0000234	Abnormality of the head	55572	FOXRED1	ORPHA:2609
HP:0000234	Abnormality of the head	284184	NDUFAF8	ORPHA:2609
HP:0000234	Abnormality of the head	55863	TMEM126B	ORPHA:2609
HP:0000234	Abnormality of the head	4537	MT-ND3	ORPHA:2609
HP:0000234	Abnormality of the head	4694	NDUFA1	ORPHA:2609
HP:0000234	Abnormality of the head	4720	NDUFS2	ORPHA:2609
HP:0000234	Abnormality of the head	4726	NDUFS6	ORPHA:2609
HP:0000234	Abnormality of the head	4728	NDUFS8	ORPHA:2609
HP:0000234	Abnormality of the head	4722	NDUFS3	ORPHA:2609
HP:0000234	Abnormality of the head	79133	NDUFAF5	ORPHA:2609
HP:0000234	Abnormality of the head	126328	NDUFA11	ORPHA:2609
HP:0000234	Abnormality of the head	4709	NDUFB3	ORPHA:2609
HP:0000234	Abnormality of the head	80224	NUBPL	ORPHA:2609
HP:0000234	Abnormality of the head	29078	NDUFAF4	ORPHA:2609
HP:0000234	Abnormality of the head	374291	NDUFS7	ORPHA:2609
HP:0000234	Abnormality of the head	4700	NDUFA6	ORPHA:2609
HP:0000234	Abnormality of the head	4715	NDUFB9	ORPHA:2609
HP:0000234	Abnormality of the head	60684	TRAPPC11	OMIM:615356
HP:0000234	Abnormality of the head	60684	TRAPPC11	ORPHA:869
HP:0000234	Abnormality of the head	60684	TRAPPC11	ORPHA:369840
HP:0000234	Abnormality of the head	4056	LTC4S	OMIM:614037
HP:0000234	Abnormality of the head	72	ACTG2	ORPHA:2604
HP:0000234	Abnormality of the head	472	ATM	OMIM:208900
HP:0000234	Abnormality of the head	3781	KCNN2	OMIM:619725
HP:0000234	Abnormality of the head	137492	VPS37A	ORPHA:319199
HP:0000234	Abnormality of the head	23761	PISD	OMIM:618889
HP:0000234	Abnormality of the head	55703	POLR3B	OMIM:619742
HP:0000234	Abnormality of the head	25930	PTPN23	OMIM:618890
HP:0000234	Abnormality of the head	339983	NAT8L	OMIM:614063
HP:0000234	Abnormality of the head	8879	SGPL1	OMIM:617575
HP:0000234	Abnormality of the head	8021	NUP214	OMIM:618426
HP:0000234	Abnormality of the head	51728	POLR3K	OMIM:619310
HP:0000234	Abnormality of the head	85476	GFM1	OMIM:609060
HP:0000234	Abnormality of the head	6650	CAPN15	OMIM:619318
HP:0000234	Abnormality of the head	256297	PTF1A	OMIM:609069
HP:0000234	Abnormality of the head	8869	ST3GAL5	OMIM:609056
HP:0000234	Abnormality of the head	79641	ROGDI	OMIM:226750
HP:0000234	Abnormality of the head	1781	DYNC1I2	OMIM:618492
HP:0000234	Abnormality of the head	191	AHCY	ORPHA:88618
HP:0000234	Abnormality of the head	26276	VPS33B	OMIM:208085
HP:0000234	Abnormality of the head	10681	GNB5	OMIM:617182
HP:0000234	Abnormality of the head	79143	MBOAT7	OMIM:617188
HP:0000234	Abnormality of the head	627	BDNF	ORPHA:893
HP:0000234	Abnormality of the head	23554	TSPAN12	ORPHA:891
HP:0000234	Abnormality of the head	79797	ZNF408	ORPHA:891
HP:0000234	Abnormality of the head	4702	NDUFA8	OMIM:619272
HP:0000234	Abnormality of the head	27183	VPS4A	OMIM:619273
HP:0000234	Abnormality of the head	81555	YIPF5	OMIM:619278
HP:0000234	Abnormality of the head	55532	SLC30A10	ORPHA:309854
HP:0000234	Abnormality of the head	36	ACADSB	OMIM:610006
HP:0000234	Abnormality of the head	51199	NIN	OMIM:614851
HP:0000234	Abnormality of the head	51199	NIN	ORPHA:319675
HP:0000234	Abnormality of the head	197257	LDHD	OMIM:245450
HP:0000234	Abnormality of the head	375748	ERCC6L2	OMIM:615715
HP:0000234	Abnormality of the head	2521	FUS	ORPHA:300605
HP:0000234	Abnormality of the head	80208	SPG11	ORPHA:300605
HP:0000234	Abnormality of the head	10280	SIGMAR1	ORPHA:300605
HP:0000234	Abnormality of the head	10558	SPTLC1	ORPHA:300605
HP:0000234	Abnormality of the head	162417	NAGS	ORPHA:927
HP:0000234	Abnormality of the head	50628	GEMIN4	OMIM:617913
HP:0000234	Abnormality of the head	4173	MCM4	OMIM:609981
HP:0000234	Abnormality of the head	55187	VPS13D	OMIM:607317
HP:0000234	Abnormality of the head	79631	EFL1	OMIM:617941
HP:0000234	Abnormality of the head	2058	EPRS1	OMIM:617951
HP:0000234	Abnormality of the head	20	ABCA2	OMIM:618808
HP:0000234	Abnormality of the head	1729	DIAPH1	OMIM:616632
HP:0000234	Abnormality of the head	6785	ELOVL4	OMIM:614457
HP:0000234	Abnormality of the head	27010	TPK1	OMIM:614458
HP:0000234	Abnormality of the head	2584	GALK1	ORPHA:79237
HP:0000234	Abnormality of the head	11019	LIAS	OMIM:614462
HP:0000234	Abnormality of the head	3704	ITPA	OMIM:616647
HP:0000234	Abnormality of the head	56270	WDR45B	OMIM:617977
HP:0000234	Abnormality of the head	54870	QRICH1	OMIM:617982
HP:0000234	Abnormality of the head	23397	NCAPH	OMIM:617985
HP:0000234	Abnormality of the head	51733	UPB1	OMIM:613161
HP:0000234	Abnormality of the head	23001	WDFY3	OMIM:617520
HP:0000234	Abnormality of the head	79587	CARS2	OMIM:616672
HP:0000234	Abnormality of the head	91452	ACBD5	OMIM:618863
HP:0000234	Abnormality of the head	84879	MFSD2A	OMIM:616486
HP:0000234	Abnormality of the head	10564	ARFGEF2	OMIM:608097
HP:0000234	Abnormality of the head	4719	NDUFS1	OMIM:618226
HP:0000234	Abnormality of the head	23287	AGTPBP1	ORPHA:2254
HP:0000234	Abnormality of the head	91137	SLC25A46	ORPHA:2254
HP:0000234	Abnormality of the head	51091	SEPSECS	OMIM:613811
HP:0000234	Abnormality of the head	51091	SEPSECS	ORPHA:2524
HP:0000234	Abnormality of the head	22845	DOLK	ORPHA:91131
HP:0000234	Abnormality of the head	132158	GLYCTK	ORPHA:941
HP:0000234	Abnormality of the head	122553	TRAPPC6B	OMIM:617862
HP:0000234	Abnormality of the head	116461	TSEN15	OMIM:617026
HP:0000234	Abnormality of the head	116461	TSEN15	ORPHA:2524
HP:0000234	Abnormality of the head	79042	TSEN34	ORPHA:2524
HP:0000234	Abnormality of the head	80746	TSEN2	ORPHA:2524
HP:0000234	Abnormality of the head	80746	TSEN2	OMIM:612389
HP:0000234	Abnormality of the head	6334	SCN8A	OMIM:614558
HP:0000234	Abnormality of the head	50	ACO2	OMIM:614559
HP:0000234	Abnormality of the head	57038	RARS2	OMIM:611523
HP:0000234	Abnormality of the head	54862	CC2D1A	OMIM:608443
HP:0000234	Abnormality of the head	2891	GRIA2	OMIM:618917
HP:0000234	Abnormality of the head	63908	NAPB	OMIM:620033
HP:0000234	Abnormality of the head	440	ASNS	OMIM:615574
HP:0000234	Abnormality of the head	5538	PPT1	OMIM:256730
HP:0000234	Abnormality of the head	6709	SPTAN1	OMIM:613477
HP:0000234	Abnormality of the head	203190	LGI3	OMIM:620007
HP:0000234	Abnormality of the head	2806	GOT2	OMIM:618721
HP:0000234	Abnormality of the head	51294	PCDH12	OMIM:251280
HP:0000234	Abnormality of the head	55163	PNPO	OMIM:610090
HP:0000234	Abnormality of the head	91801	ALKBH8	OMIM:618504
HP:0000234	Abnormality of the head	3703	STT3A	OMIM:619714
HP:0000234	Abnormality of the head	84100	ARL6	OMIM:209900
HP:0000234	Abnormality of the head	79140	CCDC28B	OMIM:209900
HP:0000234	Abnormality of the head	582	BBS1	OMIM:209900
HP:0000234	Abnormality of the head	55109	AGGF1	ORPHA:90308
HP:0000234	Abnormality of the head	28514	DLL1	ORPHA:93926
HP:0000234	Abnormality of the head	28514	DLL1	ORPHA:93924
HP:0000234	Abnormality of the head	28514	DLL1	ORPHA:93925
HP:0000234	Abnormality of the head	28514	DLL1	OMIM:618709
HP:0000234	Abnormality of the head	28514	DLL1	ORPHA:220386
HP:0000234	Abnormality of the head	6496	SIX3	ORPHA:93926
HP:0000234	Abnormality of the head	6496	SIX3	ORPHA:93924
HP:0000234	Abnormality of the head	6496	SIX3	ORPHA:93925
HP:0000234	Abnormality of the head	6496	SIX3	ORPHA:220386
HP:0000234	Abnormality of the head	7050	TGIF1	ORPHA:93926
HP:0000234	Abnormality of the head	7050	TGIF1	ORPHA:93924
HP:0000234	Abnormality of the head	7050	TGIF1	ORPHA:93925
HP:0000234	Abnormality of the head	7050	TGIF1	ORPHA:220386
HP:0000234	Abnormality of the head	4838	NODAL	ORPHA:93926
HP:0000234	Abnormality of the head	4838	NODAL	ORPHA:93924
HP:0000234	Abnormality of the head	4838	NODAL	ORPHA:93925
HP:0000234	Abnormality of the head	4838	NODAL	ORPHA:220386
HP:0000234	Abnormality of the head	6491	STIL	ORPHA:93926
HP:0000234	Abnormality of the head	6491	STIL	ORPHA:93924
HP:0000234	Abnormality of the head	6491	STIL	ORPHA:93925
HP:0000234	Abnormality of the head	6491	STIL	ORPHA:220386
HP:0000234	Abnormality of the head	2619	GAS1	ORPHA:93926
HP:0000234	Abnormality of the head	2619	GAS1	ORPHA:93924
HP:0000234	Abnormality of the head	2619	GAS1	ORPHA:93925
HP:0000234	Abnormality of the head	2619	GAS1	ORPHA:220386
HP:0000234	Abnormality of the head	84976	DISP1	ORPHA:93926
HP:0000234	Abnormality of the head	84976	DISP1	ORPHA:93924
HP:0000234	Abnormality of the head	84976	DISP1	ORPHA:93925
HP:0000234	Abnormality of the head	84976	DISP1	ORPHA:220386
HP:0000234	Abnormality of the head	2736	GLI2	ORPHA:93926
HP:0000234	Abnormality of the head	2736	GLI2	ORPHA:93924
HP:0000234	Abnormality of the head	2736	GLI2	ORPHA:93925
HP:0000234	Abnormality of the head	2736	GLI2	ORPHA:220386
HP:0000234	Abnormality of the head	8928	FOXH1	ORPHA:93926
HP:0000234	Abnormality of the head	8928	FOXH1	ORPHA:93924
HP:0000234	Abnormality of the head	8928	FOXH1	ORPHA:93925
HP:0000234	Abnormality of the head	8928	FOXH1	ORPHA:220386
HP:0000234	Abnormality of the head	50937	CDON	ORPHA:93926
HP:0000234	Abnormality of the head	50937	CDON	ORPHA:93924
HP:0000234	Abnormality of the head	50937	CDON	ORPHA:93925
HP:0000234	Abnormality of the head	50937	CDON	ORPHA:220386
HP:0000234	Abnormality of the head	26057	ANKRD17	OMIM:619504
HP:0000234	Abnormality of the head	57680	CHD8	OMIM:615032
HP:0000234	Abnormality of the head	100128927	ZBTB42	OMIM:616248
HP:0000234	Abnormality of the head	51341	ZBTB7A	OMIM:619769
HP:0000234	Abnormality of the head	80173	IFT74	OMIM:617119
HP:0000234	Abnormality of the head	1967	EIF2B1	OMIM:603896
HP:0000234	Abnormality of the head	79944	L2HGDH	ORPHA:79314
HP:0000234	Abnormality of the head	3912	LAMB1	OMIM:615191
HP:0000234	Abnormality of the head	4723	NDUFV1	OMIM:618225
HP:0000234	Abnormality of the head	443	ASPA	ORPHA:314918
HP:0000234	Abnormality of the head	443	ASPA	ORPHA:314911
HP:0000234	Abnormality of the head	443	ASPA	OMIM:271900
HP:0000234	Abnormality of the head	23729	SHPK	ORPHA:440713
HP:0000234	Abnormality of the head	51114	ZDHHC9	ORPHA:776
HP:0000234	Abnormality of the head	65109	UPF3B	ORPHA:776
HP:0000234	Abnormality of the head	65109	UPF3B	OMIM:300676
HP:0000234	Abnormality of the head	84892	POMGNT2	ORPHA:899
HP:0000234	Abnormality of the head	148789	B3GALNT2	ORPHA:899
HP:0000234	Abnormality of the head	10329	RXYLT1	ORPHA:899
HP:0000234	Abnormality of the head	1605	DAG1	ORPHA:899
HP:0000234	Abnormality of the head	1605	DAG1	OMIM:616538
HP:0000234	Abnormality of the head	11041	B4GAT1	ORPHA:899
HP:0000234	Abnormality of the head	84197	POMK	ORPHA:899
HP:0000234	Abnormality of the head	55624	POMGNT1	ORPHA:899
HP:0000234	Abnormality of the head	347733	TUBB2B	ORPHA:467166
HP:0000234	Abnormality of the head	7846	TUBA1A	ORPHA:467166
HP:0000234	Abnormality of the head	3549	IHH	ORPHA:63446
HP:0000234	Abnormality of the head	10483	SEC23B	ORPHA:201
HP:0000234	Abnormality of the head	10483	SEC23B	OMIM:616858
HP:0000234	Abnormality of the head	6390	SDHB	ORPHA:201
HP:0000234	Abnormality of the head	6392	SDHD	ORPHA:201
HP:0000234	Abnormality of the head	6391	SDHC	ORPHA:201
HP:0000234	Abnormality of the head	205717	USF3	ORPHA:201
HP:0000234	Abnormality of the head	100144748	KLLN	ORPHA:201
HP:0000234	Abnormality of the head	100144748	KLLN	OMIM:615107
HP:0000234	Abnormality of the head	2009	EML1	OMIM:600348
HP:0000234	Abnormality of the head	2683	B4GALT1	OMIM:607091
HP:0000234	Abnormality of the head	220296	HEPACAM	OMIM:613925
HP:0000234	Abnormality of the head	220296	HEPACAM	OMIM:613926
HP:0000234	Abnormality of the head	220296	HEPACAM	OMIM:604004
HP:0000234	Abnormality of the head	8812	CCNK	OMIM:618147
HP:0000234	Abnormality of the head	10653	SPINT2	OMIM:270420
HP:0000234	Abnormality of the head	2571	GAD1	OMIM:619124
HP:0000234	Abnormality of the head	23112	TNRC6B	OMIM:619243
HP:0000234	Abnormality of the head	288	ANK3	ORPHA:356996
HP:0000234	Abnormality of the head	6853	SYN1	ORPHA:85294
HP:0000234	Abnormality of the head	6853	SYN1	OMIM:300491
HP:0000234	Abnormality of the head	23169	SLC35D1	OMIM:269250
HP:0000234	Abnormality of the head	23169	SLC35D1	ORPHA:3144
HP:0000234	Abnormality of the head	777	CACNA1E	OMIM:618285
HP:0000234	Abnormality of the head	4781	NFIB	OMIM:618286
HP:0000234	Abnormality of the head	23299	BICD2	OMIM:618291
HP:0000234	Abnormality of the head	1496	CTNNA2	OMIM:618174
HP:0000234	Abnormality of the head	25886	POC1A	OMIM:614813
HP:0000234	Abnormality of the head	55294	FBXW7	OMIM:620012
HP:0000234	Abnormality of the head	894	CCND2	ORPHA:83473
HP:0000234	Abnormality of the head	894	CCND2	OMIM:615938
HP:0000234	Abnormality of the head	10000	AKT3	ORPHA:83473
HP:0000234	Abnormality of the head	10000	AKT3	ORPHA:99802
HP:0000234	Abnormality of the head	10000	AKT3	OMIM:615937
HP:0000234	Abnormality of the head	84282	RNF135	ORPHA:137634
HP:0000234	Abnormality of the head	8854	ALDH1A2	OMIM:620025
HP:0000234	Abnormality of the head	80204	FBXO11	OMIM:618089
HP:0000234	Abnormality of the head	1802	DPH2	OMIM:620062
HP:0000234	Abnormality of the head	81031	SLC2A10	ORPHA:3342
HP:0000234	Abnormality of the head	22859	ADGRL1	OMIM:620065
HP:0000234	Abnormality of the head	6609	SMPD1	OMIM:257200
HP:0000234	Abnormality of the head	6558	SLC12A2	OMIM:619081
HP:0000234	Abnormality of the head	9568	GABBR2	OMIM:617903
HP:0000234	Abnormality of the head	9555	MACROH2A1	ORPHA:1275
HP:0000234	Abnormality of the head	34	ACADM	ORPHA:42
HP:0000234	Abnormality of the head	63901	FAM111A	OMIM:127000
HP:0000234	Abnormality of the head	2776	GNAQ	ORPHA:3205
HP:0000234	Abnormality of the head	2776	GNAQ	OMIM:185300
HP:0000234	Abnormality of the head	23590	PDSS1	OMIM:614651
HP:0000234	Abnormality of the head	10075	HUWE1	OMIM:309590
HP:0000234	Abnormality of the head	579	NKX3-2	OMIM:613330
HP:0000234	Abnormality of the head	84162	BLTP1	OMIM:617822
HP:0000234	Abnormality of the head	2782	GNB1	OMIM:616973
HP:0000234	Abnormality of the head	5339	PLEC	OMIM:612138
HP:0000234	Abnormality of the head	64221	ROBO3	OMIM:607313
HP:0000234	Abnormality of the head	134701	RIPPLY2	ORPHA:2311
HP:0000234	Abnormality of the head	10683	DLL3	ORPHA:2311
HP:0000234	Abnormality of the head	3955	LFNG	ORPHA:2311
HP:0000234	Abnormality of the head	84667	HES7	ORPHA:2311
HP:0000234	Abnormality of the head	145873	MESP2	ORPHA:2311
HP:0000234	Abnormality of the head	6907	TBL1X	OMIM:301033
HP:0000234	Abnormality of the head	3747	KCNC2	OMIM:619913
HP:0000234	Abnormality of the head	91461	PKDCC	OMIM:618821
HP:0000234	Abnormality of the head	23209	MLC1	OMIM:604004
HP:0000234	Abnormality of the head	6911	TBX6	ORPHA:1797
HP:0000234	Abnormality of the head	5879	RAC1	OMIM:617751
HP:0000234	Abnormality of the head	5879	RAC1	ORPHA:500159
HP:0000234	Abnormality of the head	8139	GAN	OMIM:256850
HP:0000234	Abnormality of the head	2639	GCDH	OMIM:231670
HP:0000234	Abnormality of the head	37	ACADVL	ORPHA:26793
HP:0000234	Abnormality of the head	9526	MPDU1	OMIM:609180
HP:0000234	Abnormality of the head	9526	MPDU1	ORPHA:79323
HP:0000234	Abnormality of the head	64175	P3H1	OMIM:610915
HP:0000234	Abnormality of the head	25915	NDUFAF3	OMIM:618240
HP:0000234	Abnormality of the head	1147	CHUK	OMIM:619339
HP:0000234	Abnormality of the head	4036	LRP2	ORPHA:2143
HP:0000234	Abnormality of the head	4036	LRP2	OMIM:222448
HP:0000234	Abnormality of the head	56006	SMG9	OMIM:616920
HP:0000234	Abnormality of the head	57020	VPS35L	OMIM:619135
HP:0000234	Abnormality of the head	10491	CRTAP	OMIM:610682
HP:0000234	Abnormality of the head	56160	NSMCE3	OMIM:617241
HP:0000234	Abnormality of the head	2108	ETFA	OMIM:231680
HP:0000234	Abnormality of the head	2109	ETFB	OMIM:231680
HP:0000234	Abnormality of the head	2110	ETFDH	OMIM:231680
HP:0000234	Abnormality of the head	865	CBFB	OMIM:620099
HP:0000234	Abnormality of the head	55612	FERMT1	ORPHA:2908
HP:0000234	Abnormality of the head	2879	GPX4	ORPHA:93317
HP:0000234	Abnormality of the head	2879	GPX4	OMIM:250220
HP:0000234	Abnormality of the head	4330	MN1	OMIM:618774
HP:0000234	Abnormality of the head	10892	MALT1	OMIM:615468
HP:0000234	Abnormality of the head	7174	TPP2	OMIM:619220
HP:0000234	Abnormality of the head	128	ADH5	OMIM:619151
HP:0000234	Abnormality of the head	28981	IFT81	OMIM:617895
HP:0000234	Abnormality of the head	4598	MVK	OMIM:610377
HP:0000234	Abnormality of the head	4598	MVK	ORPHA:29
HP:0000234	Abnormality of the head	7701	ZNF142	OMIM:618425
HP:0000234	Abnormality of the head	5700	PSMC1	OMIM:620071
HP:0000234	Abnormality of the head	10765	KDM5B	OMIM:618109
HP:0000234	Abnormality of the head	7681	MKRN3	OMIM:176270
HP:0000234	Abnormality of the head	3653	IPW	OMIM:176270
HP:0000234	Abnormality of the head	791114	PWRN1	OMIM:176270
HP:0000234	Abnormality of the head	100033413	SNORD116-1	OMIM:176270
HP:0000234	Abnormality of the head	8924	HERC2	OMIM:176270
HP:0000234	Abnormality of the head	145624	PWAR1	OMIM:176270
HP:0000234	Abnormality of the head	23742	NPAP1	OMIM:176270
HP:0000234	Abnormality of the head	338433	SNORD115-1	OMIM:176270
HP:0000234	Abnormality of the head	137814	NKX2-6	ORPHA:3303
HP:0000234	Abnormality of the head	23414	ZFPM2	ORPHA:3303
HP:0000234	Abnormality of the head	3791	KDR	ORPHA:3303
HP:0000234	Abnormality of the head	2627	GATA6	ORPHA:3303
HP:0000234	Abnormality of the head	2657	GDF1	ORPHA:3303
HP:0000234	Abnormality of the head	140628	GATA5	ORPHA:3303
HP:0000234	Abnormality of the head	10370	CITED2	ORPHA:3303
HP:0000234	Abnormality of the head	2254	FGF9	OMIM:612961
HP:0000234	Abnormality of the head	23233	EXOC6B	OMIM:618395
HP:0000234	Abnormality of the head	1861	TOR1A	OMIM:618947
HP:0000234	Abnormality of the head	7874	USP7	OMIM:616863
HP:0000234	Abnormality of the head	4487	MSX1	ORPHA:141291
HP:0000234	Abnormality of the head	3664	IRF6	ORPHA:141291
HP:0000234	Abnormality of the head	57647	DHX37	ORPHA:983
HP:0000234	Abnormality of the head	1644	DDC	OMIM:608643
HP:0000234	Abnormality of the head	1493	CTLA4	ORPHA:3162
HP:0000234	Abnormality of the head	940	CD28	ORPHA:3162
HP:0000234	Abnormality of the head	7133	TNFRSF1B	ORPHA:3162
HP:0000234	Abnormality of the head	4210	MEFV	ORPHA:3243
HP:0000234	Abnormality of the head	54507	ADAMTSL4	ORPHA:1885
HP:0000234	Abnormality of the head	118987	PDZD8	OMIM:620021
HP:0000234	Abnormality of the head	1723	DHODH	OMIM:263750
HP:0000234	Abnormality of the head	1723	DHODH	ORPHA:246
HP:0000234	Abnormality of the head	7021	TFAP2B	ORPHA:46627
HP:0000234	Abnormality of the head	51109	RDH11	OMIM:616108
HP:0000234	Abnormality of the head	51109	RDH11	ORPHA:436245
HP:0000234	Abnormality of the head	55858	TMEM165	OMIM:614727
HP:0000234	Abnormality of the head	2296	FOXC1	OMIM:602482
HP:0000234	Abnormality of the head	4803	NGF	ORPHA:64752
HP:0000234	Abnormality of the head	145258	GSC	OMIM:602471
HP:0000234	Abnormality of the head	4849	CNOT3	OMIM:618672
HP:0000234	Abnormality of the head	3835	KIF22	OMIM:603546
HP:0000234	Abnormality of the head	22930	RAB3GAP1	ORPHA:1387
HP:0000234	Abnormality of the head	51574	LARP7	ORPHA:319671
HP:0000234	Abnormality of the head	51574	LARP7	OMIM:615071
HP:0000234	Abnormality of the head	4883	NPR3	OMIM:619543
HP:0000234	Abnormality of the head	55212	BBS7	OMIM:615984
HP:0000234	Abnormality of the head	1297	COL9A1	ORPHA:250984
HP:0000234	Abnormality of the head	1299	COL9A3	ORPHA:250984
HP:0000234	Abnormality of the head	84695	LOXL3	ORPHA:250984
HP:0000234	Abnormality of the head	1741	DLG3	OMIM:300850
HP:0000234	Abnormality of the head	92344	GORAB	OMIM:231070
HP:0000234	Abnormality of the head	92344	GORAB	ORPHA:2078
HP:0000234	Abnormality of the head	6898	TAT	ORPHA:28378
HP:0000234	Abnormality of the head	5702	PSMC3	OMIM:619354
HP:0000234	Abnormality of the head	23630	KCNE5	ORPHA:86818
HP:0000234	Abnormality of the head	2182	ACSL4	ORPHA:86818
HP:0000234	Abnormality of the head	29920	PYCR2	OMIM:616420
HP:0000234	Abnormality of the head	9939	RBM8A	OMIM:274000
HP:0000234	Abnormality of the head	9130	FAM50A	OMIM:300261
HP:0000234	Abnormality of the head	871	SERPINH1	OMIM:613848
HP:0000234	Abnormality of the head	121340	SP7	OMIM:613849
HP:0000234	Abnormality of the head	724066	ATXN8	ORPHA:98760
HP:0000234	Abnormality of the head	5138	PDE2A	OMIM:619150
HP:0000234	Abnormality of the head	25953	PNKD	OMIM:118800
HP:0000234	Abnormality of the head	9860	LRIG2	OMIM:615112
HP:0000234	Abnormality of the head	1356	CP	ORPHA:48818
HP:0000234	Abnormality of the head	501	ALDH7A1	ORPHA:3006
HP:0000234	Abnormality of the head	11212	PLPBP	ORPHA:3006
HP:0000234	Abnormality of the head	2690	GHR	OMIM:262500
HP:0000234	Abnormality of the head	6328	SCN3A	OMIM:617935
HP:0000234	Abnormality of the head	10716	TBR1	ORPHA:1617
HP:0000234	Abnormality of the head	9382	COG1	OMIM:611209
HP:0000234	Abnormality of the head	10479	SLC9A6	OMIM:300243
HP:0000234	Abnormality of the head	10479	SLC9A6	ORPHA:85278
HP:0000234	Abnormality of the head	10525	HYOU1	OMIM:233600
HP:0000234	Abnormality of the head	4810	NHS	OMIM:302350
HP:0000234	Abnormality of the head	7102	TSPAN7	OMIM:300210
HP:0000234	Abnormality of the head	51132	RLIM	OMIM:300978
HP:0000234	Abnormality of the head	54880	BCOR	ORPHA:2712
HP:0000234	Abnormality of the head	54880	BCOR	OMIM:300166
HP:0000234	Abnormality of the head	9241	NOG	OMIM:186500
HP:0000234	Abnormality of the head	80152	CENPT	OMIM:618702
HP:0000234	Abnormality of the head	7486	WRN	ORPHA:902
HP:0000234	Abnormality of the head	63932	STEEP1	OMIM:301013
HP:0000234	Abnormality of the head	7140	TNNT3	ORPHA:1147
HP:0000234	Abnormality of the head	7136	TNNI2	ORPHA:1147
HP:0000234	Abnormality of the head	1062	CENPE	ORPHA:808
HP:0000234	Abnormality of the head	79902	NUP85	ORPHA:808
HP:0000234	Abnormality of the head	84126	ATRIP	ORPHA:808
HP:0000234	Abnormality of the head	6567	SLC16A2	ORPHA:59
HP:0000234	Abnormality of the head	1140	CHRNB1	OMIM:616313
HP:0000234	Abnormality of the head	10382	TUBB4A	OMIM:128101
HP:0000234	Abnormality of the head	2673	GFPT1	OMIM:608931
HP:0000234	Abnormality of the head	9853	RUSC2	OMIM:617773
HP:0000234	Abnormality of the head	5913	RAPSN	OMIM:616326
HP:0000234	Abnormality of the head	2067	ERCC1	ORPHA:90322
HP:0000234	Abnormality of the head	23118	TAB2	ORPHA:228410
HP:0000234	Abnormality of the head	613	BCR	ORPHA:261330
HP:0000234	Abnormality of the head	1399	CRKL	ORPHA:261330
HP:0000234	Abnormality of the head	10026	PIGK	OMIM:618879
HP:0000234	Abnormality of the head	2590	GALNT2	OMIM:618885
HP:0000234	Abnormality of the head	222663	SCUBE3	OMIM:619184
HP:0000234	Abnormality of the head	23327	NEDD4L	OMIM:617201
HP:0000234	Abnormality of the head	6445	SGCG	ORPHA:353
HP:0000234	Abnormality of the head	51692	CPSF3	OMIM:619876
HP:0000234	Abnormality of the head	55719	SLF2	OMIM:620184
HP:0000234	Abnormality of the head	51244	CCDC174	OMIM:616816
HP:0000234	Abnormality of the head	9342	SNAP29	OMIM:609528
HP:0000234	Abnormality of the head	9342	SNAP29	ORPHA:66631
HP:0000234	Abnormality of the head	84317	CCDC115	OMIM:616828
HP:0000234	Abnormality of the head	79912	PYROXD1	OMIM:617258
HP:0000234	Abnormality of the head	84679	SLC9A7	OMIM:301024
HP:0000234	Abnormality of the head	22808	MRAS	OMIM:618499
HP:0000234	Abnormality of the head	79576	NKAP	OMIM:301039
HP:0000234	Abnormality of the head	1654	DDX3X	OMIM:300958
HP:0000234	Abnormality of the head	23133	PHF8	ORPHA:85287
HP:0000234	Abnormality of the head	23133	PHF8	OMIM:300263
HP:0000234	Abnormality of the head	25974	MMACHC	ORPHA:79282
HP:0000234	Abnormality of the head	25974	MMACHC	OMIM:277400
HP:0000234	Abnormality of the head	11043	MID2	OMIM:300928
HP:0000234	Abnormality of the head	5566	PRKACA	OMIM:619142
HP:0000234	Abnormality of the head	5052	PRDX1	OMIM:277400
HP:0000234	Abnormality of the head	3476	IGBP1	OMIM:300472
HP:0000234	Abnormality of the head	3476	IGBP1	ORPHA:52055
HP:0000234	Abnormality of the head	2294	FOXF1	OMIM:265380
HP:0000234	Abnormality of the head	10262	SF3B4	OMIM:154400
HP:0000234	Abnormality of the head	10046	MAMLD1	ORPHA:456328
HP:0000234	Abnormality of the head	4534	MTM1	ORPHA:456328
HP:0000234	Abnormality of the head	8425	LTBP4	OMIM:613177
HP:0000234	Abnormality of the head	10054	UBA2	OMIM:619959
HP:0000234	Abnormality of the head	347734	SLC35B2	OMIM:620269
HP:0000234	Abnormality of the head	2629	GBA1	OMIM:608013
HP:0000234	Abnormality of the head	54968	TMEM70	ORPHA:1194
HP:0000234	Abnormality of the head	6536	SLC6A9	OMIM:617301
HP:0000234	Abnormality of the head	318	NUDT2	OMIM:619844
HP:0000234	Abnormality of the head	26153	KIF26A	OMIM:620156
HP:0000234	Abnormality of the head	25778	DSTYK	OMIM:270750
HP:0000234	Abnormality of the head	25885	POLR1A	OMIM:616462
HP:0000234	Abnormality of the head	23184	MESD	OMIM:618644
HP:0000234	Abnormality of the head	51319	RSRC1	OMIM:618402
HP:0000234	Abnormality of the head	79184	BRCC3	ORPHA:280679
HP:0000234	Abnormality of the head	7841	MOGS	OMIM:606056
HP:0000234	Abnormality of the head	7841	MOGS	ORPHA:79330
HP:0000234	Abnormality of the head	84314	TMEM107	OMIM:617563
HP:0000234	Abnormality of the head	8550	MAPKAPK5	OMIM:619869
HP:0000234	Abnormality of the head	1906	EDN1	OMIM:615706
HP:0000234	Abnormality of the head	4247	MGAT2	OMIM:212066
HP:0000234	Abnormality of the head	23265	EXOC7	OMIM:619072
HP:0000234	Abnormality of the head	51633	OTUD6B	OMIM:617452
HP:0000234	Abnormality of the head	51633	OTUD6B	ORPHA:505237
HP:0000234	Abnormality of the head	79770	TXNDC15	OMIM:619879
HP:0000234	Abnormality of the head	8364	H4C3	OMIM:619758
HP:0000234	Abnormality of the head	10290	SPEG	OMIM:615959
HP:0000234	Abnormality of the head	10290	SPEG	ORPHA:169186
HP:0000234	Abnormality of the head	58	ACTA1	OMIM:161800
HP:0000234	Abnormality of the head	147912	SIX5	ORPHA:107
HP:0000234	Abnormality of the head	27086	FOXP1	ORPHA:391372
HP:0000234	Abnormality of the head	27086	FOXP1	OMIM:613670
HP:0000234	Abnormality of the head	163175	LGI4	OMIM:617468
HP:0000234	Abnormality of the head	9993	DGCR2	OMIM:192430
HP:0000234	Abnormality of the head	8220	ESS2	OMIM:192430
HP:0000234	Abnormality of the head	8214	DGCR6	OMIM:192430
HP:0000234	Abnormality of the head	54487	DGCR8	OMIM:192430
HP:0000234	Abnormality of the head	10667	FARS2	ORPHA:466722
HP:0000234	Abnormality of the head	23065	EMC1	ORPHA:480898
HP:0000234	Abnormality of the head	23065	EMC1	OMIM:616875
HP:0000234	Abnormality of the head	56975	FAM20C	ORPHA:1832
HP:0000234	Abnormality of the head	2556	GABRA3	OMIM:301091
HP:0000234	Abnormality of the head	3187	HNRNPH1	OMIM:620083
HP:0000234	Abnormality of the head	4677	NARS1	OMIM:619092
HP:0000234	Abnormality of the head	57479	PRR12	OMIM:619539
HP:0000234	Abnormality of the head	4088	SMAD3	OMIM:613795
HP:0000234	Abnormality of the head	4088	SMAD3	ORPHA:284984
HP:0000234	Abnormality of the head	4088	SMAD3	ORPHA:91387
HP:0000234	Abnormality of the head	55835	CENPJ	OMIM:613676
HP:0000234	Abnormality of the head	7048	TGFBR2	OMIM:610168
HP:0000234	Abnormality of the head	7048	TGFBR2	ORPHA:91387
HP:0000234	Abnormality of the head	641	BLM	ORPHA:125
HP:0000234	Abnormality of the head	10533	ATG7	OMIM:619422
HP:0000234	Abnormality of the head	7046	TGFBR1	OMIM:609192
HP:0000234	Abnormality of the head	7046	TGFBR1	ORPHA:91387
HP:0000234	Abnormality of the head	51013	EXOSC1	OMIM:619304
HP:0000234	Abnormality of the head	274	BIN1	ORPHA:169186
HP:0000234	Abnormality of the head	7273	TTN	ORPHA:169186
HP:0000234	Abnormality of the head	8243	SMC1A	OMIM:301044
HP:0000234	Abnormality of the head	10466	COG5	ORPHA:263487
HP:0000234	Abnormality of the head	1859	DYRK1A	ORPHA:268261
HP:0000234	Abnormality of the head	56945	MRPS22	OMIM:611719
HP:0000234	Abnormality of the head	55869	HDAC8	OMIM:300882
HP:0000234	Abnormality of the head	6492	SIM1	ORPHA:171829
HP:0000234	Abnormality of the head	23291	FBXW11	OMIM:618914
HP:0000234	Abnormality of the head	9662	CEP135	OMIM:614673
HP:0000234	Abnormality of the head	5915	RARB	OMIM:615524
HP:0000234	Abnormality of the head	5932	RBBP8	OMIM:251255
HP:0000234	Abnormality of the head	3417	IDH1	ORPHA:99646
HP:0000234	Abnormality of the head	16	AARS1	OMIM:619691
HP:0000234	Abnormality of the head	56915	EXOSC5	OMIM:619576
HP:0000234	Abnormality of the head	2530	FUT8	OMIM:618005
HP:0000234	Abnormality of the head	55906	ZC4H2	OMIM:314580
HP:0000234	Abnormality of the head	81620	CDT1	ORPHA:2554
HP:0000234	Abnormality of the head	5000	ORC4	ORPHA:2554
HP:0000234	Abnormality of the head	23594	ORC6	ORPHA:2554
HP:0000234	Abnormality of the head	990	CDC6	ORPHA:2554
HP:0000234	Abnormality of the head	91647	ATPAF2	OMIM:604273
HP:0000234	Abnormality of the head	54539	NDUFB11	ORPHA:2556
HP:0000234	Abnormality of the head	1349	COX7B	ORPHA:2556
HP:0000234	Abnormality of the head	3052	HCCS	ORPHA:2556
HP:0000234	Abnormality of the head	444	ASPH	OMIM:601552
HP:0000234	Abnormality of the head	372	ARCN1	OMIM:617164
HP:0000234	Abnormality of the head	9758	FRMPD4	OMIM:300983
HP:0000234	Abnormality of the head	51729	WBP11	OMIM:619227
HP:0000234	Abnormality of the head	5116	PCNT	OMIM:210720
HP:0000234	Abnormality of the head	5116	PCNT	ORPHA:2637
HP:0000234	Abnormality of the head	6638	SNRPN	ORPHA:177907
HP:0000234	Abnormality of the head	9244	CRLF1	OMIM:272430
HP:0000234	Abnormality of the head	8943	AP3D1	OMIM:617050
HP:0000234	Abnormality of the head	57061	HYMAI	ORPHA:96191
HP:0000234	Abnormality of the head	5325	PLAGL1	ORPHA:96191
HP:0000234	Abnormality of the head	29895	MYL11	OMIM:619110
HP:0000234	Abnormality of the head	348180	CTU2	OMIM:618142
HP:0000234	Abnormality of the head	340419	RSPO2	OMIM:618022
HP:0000234	Abnormality of the head	54796	BNC2	ORPHA:93110
HP:0000234	Abnormality of the head	4927	NUP88	OMIM:618393
HP:0000234	Abnormality of the head	440138	ALG11	ORPHA:280071
HP:0000234	Abnormality of the head	55717	WDR11	OMIM:620237
HP:0000234	Abnormality of the head	118924	FRA10AC1	OMIM:620113
HP:0000234	Abnormality of the head	22995	CEP152	OMIM:613823
HP:0000234	Abnormality of the head	2273	FHL1	OMIM:300280
HP:0000234	Abnormality of the head	7169	TPM2	OMIM:108120
HP:0000234	Abnormality of the head	342035	GLDN	OMIM:617194
HP:0000234	Abnormality of the head	200205	IBA57	OMIM:615330
HP:0000234	Abnormality of the head	2733	GLE1	OMIM:611890
HP:0000234	Abnormality of the head	100151683	RNU4ATAC	ORPHA:2636
HP:0000234	Abnormality of the head	5718	PSMD12	OMIM:617516
HP:0000234	Abnormality of the head	84842	HPDL	OMIM:619026
HP:0000234	Abnormality of the head	375056	MIA3	OMIM:619269
HP:0000234	Abnormality of the head	18	ABAT	OMIM:613163
HP:0000234	Abnormality of the head	523	ATP6V1A	OMIM:617403
HP:0000234	Abnormality of the head	25871	NEPRO	OMIM:618853
HP:0000234	Abnormality of the head	7042	TGFB2	OMIM:614816
HP:0000234	Abnormality of the head	7042	TGFB2	ORPHA:91387
HP:0000234	Abnormality of the head	3480	IGF1R	OMIM:270450
HP:0000234	Abnormality of the head	4629	MYH11	ORPHA:91387
HP:0000234	Abnormality of the head	4015	LOX	ORPHA:91387
HP:0000234	Abnormality of the head	4087	SMAD2	ORPHA:91387
HP:0000234	Abnormality of the head	4089	SMAD4	ORPHA:91387
HP:0000234	Abnormality of the head	59	ACTA2	ORPHA:91387
HP:0000234	Abnormality of the head	5592	PRKG1	ORPHA:91387
HP:0000234	Abnormality of the head	2301	FOXE3	ORPHA:91387
HP:0000234	Abnormality of the head	4144	MAT2A	ORPHA:91387
HP:0000234	Abnormality of the head	23493	HEY2	ORPHA:91387
HP:0000234	Abnormality of the head	8076	MFAP5	ORPHA:91387
HP:0000234	Abnormality of the head	4638	MYLK	ORPHA:91387
HP:0000234	Abnormality of the head	199857	ALG14	OMIM:619031
HP:0000234	Abnormality of the head	9131	AIFM1	OMIM:300232
HP:0000234	Abnormality of the head	27316	RBMX	OMIM:300238
HP:0000234	Abnormality of the head	51256	TBC1D7	OMIM:248000
HP:0000234	Abnormality of the head	1183	CLCN4	OMIM:300114
HP:0000234	Abnormality of the head	23241	PACS2	OMIM:618067
HP:0000234	Abnormality of the head	55823	VPS11	ORPHA:466934
HP:0000234	Abnormality of the head	118429	ANTXR2	ORPHA:2176
HP:0000234	Abnormality of the head	118429	ANTXR2	OMIM:228600
HP:0000234	Abnormality of the head	29072	SETD2	ORPHA:821
HP:0000234	Abnormality of the head	10297	APC2	ORPHA:821
HP:0000234	Abnormality of the head	114803	MYSM1	ORPHA:508542
HP:0000234	Abnormality of the head	80232	WDR26	ORPHA:513456
HP:0000234	Abnormality of the head	80232	WDR26	OMIM:617616
HP:0000234	Abnormality of the head	170302	ARX	OMIM:300004
HP:0000234	Abnormality of the head	170302	ARX	ORPHA:2508
HP:0000234	Abnormality of the head	65993	MRPS34	OMIM:617664
HP:0000234	Abnormality of the head	23431	AP4E1	OMIM:613744
HP:0000234	Abnormality of the head	23431	AP4E1	ORPHA:280763
HP:0000234	Abnormality of the head	5476	CTSA	OMIM:256540
HP:0000234	Abnormality of the head	5476	CTSA	ORPHA:351
HP:0000234	Abnormality of the head	84572	GNPTG	OMIM:252605
HP:0000234	Abnormality of the head	56992	KIF15	ORPHA:261323
HP:0000234	Abnormality of the head	3074	HEXB	ORPHA:309155
HP:0000234	Abnormality of the head	3074	HEXB	OMIM:268800
HP:0000234	Abnormality of the head	3423	IDS	ORPHA:217085
HP:0000234	Abnormality of the head	3423	IDS	OMIM:309900
HP:0000234	Abnormality of the head	3423	IDS	ORPHA:217093
HP:0000234	Abnormality of the head	8289	ARID1A	OMIM:614607
HP:0000234	Abnormality of the head	8289	ARID1A	ORPHA:1465
HP:0000234	Abnormality of the head	4323	MMP14	OMIM:277950
HP:0000234	Abnormality of the head	83480	PUS3	ORPHA:488627
HP:0000234	Abnormality of the head	83480	PUS3	OMIM:617051
HP:0000234	Abnormality of the head	6598	SMARCB1	OMIM:614608
HP:0000234	Abnormality of the head	6598	SMARCB1	ORPHA:1465
HP:0000234	Abnormality of the head	6597	SMARCA4	OMIM:614609
HP:0000234	Abnormality of the head	6597	SMARCA4	ORPHA:1465
HP:0000234	Abnormality of the head	1193	CLIC2	ORPHA:324410
HP:0000234	Abnormality of the head	79813	EHMT1	OMIM:610253
HP:0000234	Abnormality of the head	3782	KCNN3	OMIM:618658
HP:0000234	Abnormality of the head	1267	CNP	OMIM:619071
HP:0000234	Abnormality of the head	10717	AP4B1	OMIM:614066
HP:0000234	Abnormality of the head	10717	AP4B1	ORPHA:280763
HP:0000234	Abnormality of the head	11154	AP4S1	OMIM:614067
HP:0000234	Abnormality of the head	11154	AP4S1	ORPHA:280763
HP:0000234	Abnormality of the head	8905	AP1S2	ORPHA:85335
HP:0000234	Abnormality of the head	8905	AP1S2	OMIM:304340
HP:0000234	Abnormality of the head	27125	AFF4	OMIM:616368
HP:0000234	Abnormality of the head	9255	AIMP1	OMIM:260600
HP:0000234	Abnormality of the head	9091	PIGQ	OMIM:618548
HP:0000234	Abnormality of the head	2990	GUSB	ORPHA:584
HP:0000234	Abnormality of the head	2990	GUSB	OMIM:253220
HP:0000234	Abnormality of the head	6605	SMARCE1	OMIM:616938
HP:0000234	Abnormality of the head	6605	SMARCE1	ORPHA:1465
HP:0000234	Abnormality of the head	10984	KCNQ1OT1	OMIM:130650
HP:0000234	Abnormality of the head	3784	KCNQ1	OMIM:130650
HP:0000234	Abnormality of the head	26047	CNTNAP2	OMIM:610042
HP:0000234	Abnormality of the head	79791	FBXO31	OMIM:615979
HP:0000234	Abnormality of the head	84295	PHF6	ORPHA:127
HP:0000234	Abnormality of the head	84295	PHF6	OMIM:301900
HP:0000234	Abnormality of the head	84188	FAR1	OMIM:616154
HP:0000234	Abnormality of the head	4352	MPL	ORPHA:3319
HP:0000234	Abnormality of the head	7066	THPO	ORPHA:3319
HP:0000234	Abnormality of the head	5277	PIGA	OMIM:301072
HP:0000234	Abnormality of the head	5277	PIGA	OMIM:300868
HP:0000234	Abnormality of the head	54808	DYM	ORPHA:239
HP:0000234	Abnormality of the head	54808	DYM	OMIM:223800
HP:0000234	Abnormality of the head	9488	PIGB	OMIM:618580
HP:0000234	Abnormality of the head	6448	SGSH	OMIM:252900
HP:0000234	Abnormality of the head	30000	TNPO2	OMIM:619556
HP:0000234	Abnormality of the head	124997	WDR81	OMIM:610185
HP:0000234	Abnormality of the head	411	ARSB	OMIM:253200
HP:0000234	Abnormality of the head	55593	OTUD5	OMIM:301056
HP:0000234	Abnormality of the head	26580	BSCL2	ORPHA:363400
HP:0000234	Abnormality of the head	23102	TBC1D2B	OMIM:619323
HP:0000234	Abnormality of the head	79868	ALG13	OMIM:300884
HP:0000234	Abnormality of the head	55784	MCTP2	ORPHA:1596
HP:0000234	Abnormality of the head	9179	AP4M1	OMIM:612936
HP:0000234	Abnormality of the head	9179	AP4M1	ORPHA:280763
HP:0000234	Abnormality of the head	7849	PAX8	ORPHA:95720
HP:0000234	Abnormality of the head	7849	PAX8	ORPHA:95713
HP:0000234	Abnormality of the head	7849	PAX8	ORPHA:95712
HP:0000234	Abnormality of the head	7253	TSHR	ORPHA:95720
HP:0000234	Abnormality of the head	7253	TSHR	ORPHA:95713
HP:0000234	Abnormality of the head	5172	SLC26A4	ORPHA:95720
HP:0000234	Abnormality of the head	5172	SLC26A4	ORPHA:95713
HP:0000234	Abnormality of the head	79068	FTO	OMIM:612938
HP:0000234	Abnormality of the head	153642	ARSK	OMIM:619698
HP:0000234	Abnormality of the head	63035	BCORL1	OMIM:301029
HP:0000234	Abnormality of the head	5530	PPP3CA	OMIM:617711
HP:0000234	Abnormality of the head	6601	SMARCC2	ORPHA:1465
HP:0000234	Abnormality of the head	6664	SOX11	ORPHA:1465
HP:0000234	Abnormality of the head	7080	NKX2-1	ORPHA:95713
HP:0000234	Abnormality of the head	1482	NKX2-5	ORPHA:95713
HP:0000234	Abnormality of the head	1482	NKX2-5	ORPHA:95712
HP:0000234	Abnormality of the head	2304	FOXE1	ORPHA:95713
HP:0000234	Abnormality of the head	28956	LAMTOR2	ORPHA:90023
HP:0000234	Abnormality of the head	28956	LAMTOR2	OMIM:610798
HP:0000234	Abnormality of the head	2717	GLA	ORPHA:324
HP:0000234	Abnormality of the head	3248	HPGD	ORPHA:2796
HP:0000234	Abnormality of the head	3248	HPGD	OMIM:259100
HP:0000234	Abnormality of the head	6578	SLCO2A1	ORPHA:2796
HP:0000234	Abnormality of the head	80311	KLHL15	OMIM:300982
HP:0000234	Abnormality of the head	26175	LYSET	OMIM:619345
HP:0000234	Abnormality of the head	54681	P4HTM	OMIM:618493
HP:0000234	Abnormality of the head	5281	PIGF	OMIM:619356
HP:0000234	Abnormality of the head	2588	GALNS	OMIM:253000
HP:0000234	Abnormality of the head	285590	SH3PXD2B	ORPHA:137834
HP:0000234	Abnormality of the head	285590	SH3PXD2B	OMIM:249420
HP:0000234	Abnormality of the head	374879	ZNF699	OMIM:619488
HP:0000234	Abnormality of the head	57688	ZSWIM6	OMIM:617865
HP:0000234	Abnormality of the head	4668	NAGA	ORPHA:79280
HP:0000234	Abnormality of the head	4668	NAGA	OMIM:609242
HP:0000234	Abnormality of the head	138050	HGSNAT	OMIM:252930
HP:0000234	Abnormality of the head	55901	THSD1	OMIM:620244
HP:0000234	Abnormality of the head	64802	NMNAT1	OMIM:619260
HP:0000234	Abnormality of the head	3897	L1CAM	ORPHA:2182
HP:0000234	Abnormality of the head	83452	RAB33B	OMIM:615222
HP:0000234	Abnormality of the head	55331	ACER3	OMIM:617762
HP:0000234	Abnormality of the head	9373	PLAA	OMIM:617527
HP:0000234	Abnormality of the head	4669	NAGLU	OMIM:252920
HP:0000234	Abnormality of the head	5626	PROP1	ORPHA:226307
HP:0000234	Abnormality of the head	89884	LHX4	ORPHA:226307
HP:0000234	Abnormality of the head	8022	LHX3	ORPHA:226307
HP:0000234	Abnormality of the head	8820	HESX1	ORPHA:226307
HP:0000234	Abnormality of the head	405753	DUOXA2	ORPHA:95716
HP:0000234	Abnormality of the head	6528	SLC5A5	ORPHA:95716
HP:0000234	Abnormality of the head	7038	TG	ORPHA:95716
HP:0000234	Abnormality of the head	7173	TPO	ORPHA:95716
HP:0000234	Abnormality of the head	389434	IYD	ORPHA:95716
HP:0000234	Abnormality of the head	50506	DUOX2	ORPHA:95716
HP:0000234	Abnormality of the head	2050	EPHB4	ORPHA:90186
HP:0000234	Abnormality of the head	2050	EPHB4	OMIM:617300
HP:0000234	Abnormality of the head	5340	PLG	OMIM:619360
HP:0000234	Abnormality of the head	284	ANGPT1	OMIM:619361
HP:0000234	Abnormality of the head	213	ALB	ORPHA:86816
HP:0000234	Abnormality of the head	84868	HAVCR2	OMIM:618398
HP:0000234	Abnormality of the head	26509	MYOF	OMIM:619366
HP:0000234	Abnormality of the head	64711	HS3ST6	OMIM:619367
HP:0000234	Abnormality of the head	3827	KNG1	OMIM:619363
HP:0000234	Abnormality of the head	7252	TSHB	ORPHA:90674
HP:0000234	Abnormality of the head	2161	F12	OMIM:610618
HP:0000234	Abnormality of the head	7552	ZNF711	OMIM:300803
HP:0000234	Abnormality of the head	7043	TGFB3	OMIM:615582
HP:0000234	Abnormality of the head	175	AGA	OMIM:208400
HP:0000234	Abnormality of the head	1759	DNM1	OMIM:620352
HP:0000234	Abnormality of the head	26235	FBXL4	OMIM:615471
HP:0000234	Abnormality of the head	23019	CNOT1	OMIM:618500
HP:0000234	Abnormality of the head	8216	LZTR1	OMIM:616564
HP:0000234	Abnormality of the head	8216	LZTR1	OMIM:605275
HP:0000234	Abnormality of the head	23135	KDM6B	OMIM:618505
HP:0000234	Abnormality of the head	6016	RIT1	OMIM:615355
HP:0000234	Abnormality of the head	4204	MECP2	ORPHA:1762
HP:0000234	Abnormality of the head	4204	MECP2	OMIM:300260
HP:0000234	Abnormality of the head	6228	RPS23	OMIM:617412
HP:0000234	Abnormality of the head	84942	WDR73	OMIM:251300
HP:0000234	Abnormality of the head	51741	WWOX	OMIM:616211
HP:0000234	Abnormality of the head	283489	CHAMP1	OMIM:616579
HP:0000234	Abnormality of the head	51111	KMT5B	OMIM:617788
HP:0000234	Abnormality of the head	2624	GATA2	OMIM:614038
HP:0000234	Abnormality of the head	79639	TMEM53	OMIM:619727
HP:0000234	Abnormality of the head	129563	DIS3L2	ORPHA:2849
HP:0000234	Abnormality of the head	10084	PQBP1	ORPHA:93947
HP:0000234	Abnormality of the head	10084	PQBP1	OMIM:309500
HP:0000234	Abnormality of the head	3764	KCNJ8	ORPHA:1517
HP:0000234	Abnormality of the head	10060	ABCC9	ORPHA:1517
HP:0000234	Abnormality of the head	10060	ABCC9	OMIM:239850
HP:0000234	Abnormality of the head	79158	GNPTAB	OMIM:252500
HP:0000234	Abnormality of the head	79158	GNPTAB	ORPHA:576
HP:0000234	Abnormality of the head	55636	CHD7	ORPHA:138
HP:0000234	Abnormality of the head	9723	SEMA3E	ORPHA:138
HP:0000234	Abnormality of the head	5189	PEX1	OMIM:214100
HP:0000234	Abnormality of the head	5189	PEX1	OMIM:601539
HP:0000234	Abnormality of the head	5189	PEX1	ORPHA:912
HP:0000234	Abnormality of the head	6023	RMRP	ORPHA:175
HP:0000234	Abnormality of the head	57589	RIC1	OMIM:618761
HP:0000234	Abnormality of the head	284058	KANSL1	ORPHA:363958
HP:0000234	Abnormality of the head	284058	KANSL1	OMIM:610443
HP:0000234	Abnormality of the head	284058	KANSL1	ORPHA:363965
HP:0000234	Abnormality of the head	54453	RIN2	OMIM:613075
HP:0000234	Abnormality of the head	9692	PRORP	OMIM:619737
HP:0000234	Abnormality of the head	815	CAMK2A	OMIM:617798
HP:0000234	Abnormality of the head	10381	TUBB3	ORPHA:300570
HP:0000234	Abnormality of the head	1290	COL5A2	ORPHA:287
HP:0000234	Abnormality of the head	1290	COL5A2	OMIM:130010
HP:0000234	Abnormality of the head	6872	TAF1	ORPHA:480907
HP:0000234	Abnormality of the head	1281	COL3A1	ORPHA:286
HP:0000234	Abnormality of the head	10087	CERT1	OMIM:616351
HP:0000234	Abnormality of the head	4763	NF1	ORPHA:363700
HP:0000234	Abnormality of the head	4763	NF1	OMIM:193520
HP:0000234	Abnormality of the head	4763	NF1	OMIM:601321
HP:0000234	Abnormality of the head	22884	WDR37	OMIM:618652
HP:0000234	Abnormality of the head	1501	CTNND2	ORPHA:281
HP:0000234	Abnormality of the head	9037	SEMA5A	ORPHA:281
HP:0000234	Abnormality of the head	5442	POLRMT	OMIM:619743
HP:0000234	Abnormality of the head	3340	NDST1	OMIM:616116
HP:0000234	Abnormality of the head	55012	PPP2R3C	OMIM:618419
HP:0000234	Abnormality of the head	200734	SPRED2	OMIM:619745
HP:0000234	Abnormality of the head	89910	UBE3B	ORPHA:2707
HP:0000234	Abnormality of the head	89910	UBE3B	OMIM:244450
HP:0000234	Abnormality of the head	8642	DCHS1	OMIM:601390
HP:0000234	Abnormality of the head	8642	DCHS1	ORPHA:314679
HP:0000234	Abnormality of the head	54345	SOX18	OMIM:137940
HP:0000234	Abnormality of the head	1789	DNMT3B	OMIM:242860
HP:0000234	Abnormality of the head	1789	DNMT3B	ORPHA:2268
HP:0000234	Abnormality of the head	54888	NSUN2	ORPHA:235
HP:0000234	Abnormality of the head	23312	DMXL2	OMIM:618663
HP:0000234	Abnormality of the head	23461	ABCA5	OMIM:135400
HP:0000234	Abnormality of the head	54914	FOCAD	OMIM:619991
HP:0000234	Abnormality of the head	8558	CDK10	OMIM:617694
HP:0000234	Abnormality of the head	79633	FAT4	OMIM:616006
HP:0000234	Abnormality of the head	79633	FAT4	ORPHA:314679
HP:0000234	Abnormality of the head	79633	FAT4	ORPHA:2136
HP:0000234	Abnormality of the head	79633	FAT4	OMIM:615546
HP:0000234	Abnormality of the head	9841	ZBTB24	OMIM:614069
HP:0000234	Abnormality of the head	9841	ZBTB24	ORPHA:2268
HP:0000234	Abnormality of the head	5979	RET	ORPHA:1848
HP:0000234	Abnormality of the head	7484	WNT9B	ORPHA:1848
HP:0000234	Abnormality of the head	80000	GREB1L	ORPHA:1848
HP:0000234	Abnormality of the head	6899	TBX1	ORPHA:1727
HP:0000234	Abnormality of the head	6899	TBX1	ORPHA:567
HP:0000234	Abnormality of the head	6134	RPL10	ORPHA:459070
HP:0000234	Abnormality of the head	6134	RPL10	OMIM:300998
HP:0000234	Abnormality of the head	286	ANK1	ORPHA:251066
HP:0000234	Abnormality of the head	85365	ALG2	ORPHA:79326
HP:0000234	Abnormality of the head	85365	ALG2	OMIM:607906
HP:0000234	Abnormality of the head	54828	BCAS3	OMIM:619641
HP:0000234	Abnormality of the head	7750	ZMYM2	OMIM:619522
HP:0000234	Abnormality of the head	56098	PCDHGC4	OMIM:619880
HP:0000234	Abnormality of the head	7358	UGDH	OMIM:618792
HP:0000234	Abnormality of the head	53335	BCL11A	OMIM:617101
HP:0000234	Abnormality of the head	113179	ADAT3	OMIM:615286
HP:0000234	Abnormality of the head	113179	ADAT3	ORPHA:363528
HP:0000234	Abnormality of the head	59336	PRDM13	OMIM:619761
HP:0000234	Abnormality of the head	59336	PRDM13	OMIM:619909
HP:0000234	Abnormality of the head	9158	FIBP	OMIM:617107
HP:0000234	Abnormality of the head	9158	FIBP	ORPHA:500095
HP:0000234	Abnormality of the head	2324	FLT4	ORPHA:79452
HP:0000234	Abnormality of the head	57165	GJC2	ORPHA:79452
HP:0000234	Abnormality of the head	5373	PMM2	ORPHA:79318
HP:0000234	Abnormality of the head	57724	EPG5	OMIM:242840
HP:0000234	Abnormality of the head	7030	TFE3	OMIM:301066
HP:0000234	Abnormality of the head	2719	GPC3	ORPHA:373
HP:0000234	Abnormality of the head	2719	GPC3	OMIM:312870
HP:0000234	Abnormality of the head	5286	PIK3C2A	OMIM:618440
HP:0000234	Abnormality of the head	5286	PIK3C2A	ORPHA:557003
HP:0000234	Abnormality of the head	8565	YARS1	OMIM:619418
HP:0000234	Abnormality of the head	23499	MACF1	OMIM:618325
HP:0000234	Abnormality of the head	374969	SVBP	OMIM:618569
HP:0000234	Abnormality of the head	7476	WNT7A	OMIM:276820
HP:0000234	Abnormality of the head	51322	WAC	ORPHA:466950
HP:0000234	Abnormality of the head	404672	GTF2H5	ORPHA:33364
HP:0000234	Abnormality of the head	833	CARS1	ORPHA:33364
HP:0000234	Abnormality of the head	2068	ERCC2	ORPHA:33364
HP:0000234	Abnormality of the head	7737	RNF113A	ORPHA:33364
HP:0000234	Abnormality of the head	136647	MPLKIP	ORPHA:33364
HP:0000234	Abnormality of the head	136647	MPLKIP	OMIM:234050
HP:0000234	Abnormality of the head	6897	TARS1	ORPHA:33364
HP:0000234	Abnormality of the head	2071	ERCC3	ORPHA:33364
HP:0000234	Abnormality of the head	10195	ALG3	OMIM:601110
HP:0000234	Abnormality of the head	6135	RPL11	ORPHA:124
HP:0000234	Abnormality of the head	6138	RPL15	ORPHA:124
HP:0000234	Abnormality of the head	6229	RPS24	ORPHA:124
HP:0000234	Abnormality of the head	6125	RPL5	ORPHA:124
HP:0000234	Abnormality of the head	6204	RPS10	ORPHA:124
HP:0000234	Abnormality of the head	6224	RPS20	ORPHA:124
HP:0000234	Abnormality of the head	6165	RPL35A	ORPHA:124
HP:0000234	Abnormality of the head	6223	RPS19	ORPHA:124
HP:0000234	Abnormality of the head	6223	RPS19	OMIM:105650
HP:0000234	Abnormality of the head	6232	RPS27	ORPHA:124
HP:0000234	Abnormality of the head	6231	RPS26	ORPHA:124
HP:0000234	Abnormality of the head	11224	RPL35	ORPHA:124
HP:0000234	Abnormality of the head	6160	RPL31	ORPHA:124
HP:0000234	Abnormality of the head	6218	RPS17	ORPHA:124
HP:0000234	Abnormality of the head	6201	RPS7	ORPHA:124
HP:0000234	Abnormality of the head	6155	RPL27	ORPHA:124
HP:0000234	Abnormality of the head	6154	RPL26	ORPHA:124
HP:0000234	Abnormality of the head	6210	RPS15A	ORPHA:124
HP:0000234	Abnormality of the head	90121	TSR2	ORPHA:124
HP:0000234	Abnormality of the head	6141	RPL18	ORPHA:124
HP:0000234	Abnormality of the head	6235	RPS29	ORPHA:124
HP:0000234	Abnormality of the head	6234	RPS28	ORPHA:124
HP:0000234	Abnormality of the head	6234	RPS28	OMIM:606164
HP:0000234	Abnormality of the head	51816	ADA2	ORPHA:124
HP:0000234	Abnormality of the head	117581	TWIST2	ORPHA:1807
HP:0000234	Abnormality of the head	117581	TWIST2	OMIM:227260
HP:0000234	Abnormality of the head	1917	EEF1A2	OMIM:616393
HP:0000234	Abnormality of the head	8621	CDK13	OMIM:617360
HP:0000234	Abnormality of the head	51117	COQ4	OMIM:616276
HP:0000234	Abnormality of the head	1642	DDB1	OMIM:619426
HP:0000234	Abnormality of the head	6857	SYT1	OMIM:618218
HP:0000234	Abnormality of the head	6857	SYT1	ORPHA:522077
HP:0000234	Abnormality of the head	6654	SOS1	OMIM:610733
HP:0000234	Abnormality of the head	389827	MYMK	OMIM:254940
HP:0000234	Abnormality of the head	389827	MYMK	ORPHA:1358
HP:0000234	Abnormality of the head	6929	TCF3	ORPHA:33110
HP:0000234	Abnormality of the head	973	CD79A	ORPHA:33110
HP:0000234	Abnormality of the head	974	CD79B	ORPHA:33110
HP:0000234	Abnormality of the head	3543	IGLL1	ORPHA:33110
HP:0000234	Abnormality of the head	3507	IGHM	ORPHA:33110
HP:0000234	Abnormality of the head	29760	BLNK	ORPHA:33110
HP:0000234	Abnormality of the head	56262	LRRC8A	ORPHA:33110
HP:0000234	Abnormality of the head	56262	LRRC8A	OMIM:613506
HP:0000234	Abnormality of the head	84706	GPT2	OMIM:616281
HP:0000234	Abnormality of the head	6909	TBX2	OMIM:618223
HP:0000234	Abnormality of the head	5351	PLOD1	OMIM:225400
HP:0000234	Abnormality of the head	6477	SIAH1	OMIM:619314
HP:0000234	Abnormality of the head	54517	PUS7	OMIM:618342
HP:0000234	Abnormality of the head	57102	C12orf4	OMIM:618221
HP:0000234	Abnormality of the head	8573	CASK	OMIM:300749
HP:0000234	Abnormality of the head	10785	WDR4	OMIM:618347
HP:0000234	Abnormality of the head	55628	ZNF407	OMIM:619557
HP:0000234	Abnormality of the head	50814	NSDHL	ORPHA:251383
HP:0000234	Abnormality of the head	50814	NSDHL	OMIM:300831
HP:0000234	Abnormality of the head	128869	PIGU	OMIM:618590
HP:0000234	Abnormality of the head	5575	PRKAR1B	OMIM:619680
HP:0000234	Abnormality of the head	26275	HIBCH	ORPHA:88639
HP:0000234	Abnormality of the head	26275	HIBCH	OMIM:250620
HP:0000234	Abnormality of the head	650	BMP2	ORPHA:261295
HP:0000234	Abnormality of the head	1436	CSF1R	OMIM:618476
HP:0000234	Abnormality of the head	57520	HECW2	OMIM:617268
HP:0000234	Abnormality of the head	5980	REV3L	ORPHA:570
HP:0000234	Abnormality of the head	23129	PLXND1	ORPHA:570
HP:0000234	Abnormality of the head	4621	MYH3	OMIM:193700
HP:0000234	Abnormality of the head	4621	MYH3	ORPHA:2990
HP:0000234	Abnormality of the head	23221	RHOBTB2	OMIM:618004
HP:0000234	Abnormality of the head	2334	AFF2	OMIM:309548
HP:0000234	Abnormality of the head	2334	AFF2	ORPHA:100973
HP:0000234	Abnormality of the head	4141	MARS1	OMIM:619692
HP:0000234	Abnormality of the head	1108	CHD4	OMIM:617159
HP:0000234	Abnormality of the head	9719	ADAMTSL2	ORPHA:1901
HP:0000234	Abnormality of the head	9509	ADAMTS2	ORPHA:1901
HP:0000234	Abnormality of the head	9509	ADAMTS2	OMIM:225410
HP:0000234	Abnormality of the head	1312	COMT	ORPHA:567
HP:0000234	Abnormality of the head	221037	JMJD1C	ORPHA:567
HP:0000234	Abnormality of the head	2812	GP1BB	ORPHA:567
HP:0000234	Abnormality of the head	6239	RREB1	ORPHA:567
HP:0000234	Abnormality of the head	7290	HIRA	ORPHA:567
HP:0000234	Abnormality of the head	9632	SEC24C	ORPHA:567
HP:0000234	Abnormality of the head	7353	UFD1	ORPHA:567
HP:0000234	Abnormality of the head	421	ARVCF	ORPHA:567
HP:0000234	Abnormality of the head	22827	PUF60	ORPHA:508488
HP:0000234	Abnormality of the head	23111	SPART	ORPHA:101000
HP:0000234	Abnormality of the head	1822	ATN1	OMIM:618494
HP:0000234	Abnormality of the head	3188	HNRNPH2	OMIM:300986
HP:0000234	Abnormality of the head	4613	MYCN	OMIM:164280
HP:0000234	Abnormality of the head	5573	PRKAR1A	OMIM:101800
HP:0000234	Abnormality of the head	5573	PRKAR1A	ORPHA:950
HP:0000234	Abnormality of the head	2290	FOXG1	ORPHA:261144
HP:0000234	Abnormality of the head	57003	CCDC47	OMIM:618268
HP:0000234	Abnormality of the head	134218	DNAJC21	OMIM:617052
HP:0000234	Abnormality of the head	10847	SRCAP	OMIM:619595
HP:0000234	Abnormality of the head	51317	PHF21A	ORPHA:52022
HP:0000234	Abnormality of the head	1457	CSNK2A1	OMIM:617062
HP:0000234	Abnormality of the head	2222	FDFT1	OMIM:618156
HP:0000234	Abnormality of the head	203068	TUBB	OMIM:156610
HP:0000234	Abnormality of the head	203068	TUBB	ORPHA:2505
HP:0000234	Abnormality of the head	57477	SHROOM4	ORPHA:85288
HP:0000234	Abnormality of the head	10220	GDF11	OMIM:619122
HP:0000234	Abnormality of the head	226	ALDOA	OMIM:611881
HP:0000234	Abnormality of the head	93587	TRMT10A	ORPHA:391408
HP:0000234	Abnormality of the head	84919	PPP1R15B	ORPHA:391408
HP:0000234	Abnormality of the head	84919	PPP1R15B	OMIM:616817
HP:0000234	Abnormality of the head	55252	ASXL2	OMIM:617190
HP:0000234	Abnormality of the head	3090	HIC1	ORPHA:531
HP:0000234	Abnormality of the head	80267	EDEM3	OMIM:619493
HP:0000234	Abnormality of the head	23154	NCDN	OMIM:619373
HP:0000234	Abnormality of the head	84231	TRAF7	OMIM:618164
HP:0000234	Abnormality of the head	51594	NBAS	OMIM:614800
HP:0000234	Abnormality of the head	54187	NANS	OMIM:610442
HP:0000234	Abnormality of the head	10079	ATP9A	OMIM:620242
HP:0000234	Abnormality of the head	1795	DOCK3	OMIM:618292
HP:0000234	Abnormality of the head	11011	TLK2	OMIM:618050
HP:0000234	Abnormality of the head	129285	PPP1R21	OMIM:619383
HP:0000234	Abnormality of the head	9562	MINPP1	ORPHA:284339
HP:0000234	Abnormality of the head	51626	DYNC2LI1	OMIM:617088
HP:0000234	Abnormality of the head	221927	BRAT1	OMIM:618056
HP:0000234	Abnormality of the head	168667	BMPER	OMIM:608022
HP:0000234	Abnormality of the head	7337	UBE3A	ORPHA:238446
HP:0000234	Abnormality of the head	8506	CNTNAP1	OMIM:618186
HP:0000234	Abnormality of the head	5393	EXOSC9	OMIM:618065
HP:0000234	Abnormality of the head	161742	SPRED1	OMIM:611431
HP:0000234	Abnormality of the head	5894	RAF1	OMIM:611554
HP:0000234	Abnormality of the head	5894	RAF1	OMIM:611553
HP:0000234	Abnormality of the head	51506	UFC1	OMIM:618076
HP:0000234	Abnormality of the head	55788	LMBRD1	OMIM:277380
HP:0000234	Abnormality of the head	25782	RAB3GAP2	OMIM:212720
HP:0000234	Abnormality of the head	10472	ZBTB18	ORPHA:36367
HP:0000234	Abnormality of the head	10472	ZBTB18	OMIM:612337
HP:0000234	Abnormality of the head	1146	CHRNG	OMIM:265000
HP:0000234	Abnormality of the head	1146	CHRNG	OMIM:253290
HP:0000234	Abnormality of the head	1146	CHRNG	ORPHA:2990
HP:0000234	Abnormality of the head	84992	PIGY	ORPHA:247262
HP:0000234	Abnormality of the head	84720	PIGO	ORPHA:247262
HP:0000234	Abnormality of the head	93210	PGAP3	ORPHA:247262
HP:0000234	Abnormality of the head	284098	PIGW	ORPHA:247262
HP:0000234	Abnormality of the head	27315	PGAP2	ORPHA:247262
HP:0000234	Abnormality of the head	55650	PIGV	ORPHA:247262
HP:0000234	Abnormality of the head	28958	COA3	OMIM:619058
HP:0000234	Abnormality of the head	9739	SETD1A	OMIM:619056
HP:0000234	Abnormality of the head	7490	WT1	OMIM:194080
HP:0000234	Abnormality of the head	546	ATRX	ORPHA:847
HP:0000234	Abnormality of the head	546	ATRX	OMIM:309580
HP:0000234	Abnormality of the head	546	ATRX	OMIM:301040
HP:0000234	Abnormality of the head	8546	AP3B1	OMIM:608233
HP:0000234	Abnormality of the head	64919	BCL11B	OMIM:618092
HP:0000234	Abnormality of the head	23036	ZNF292	OMIM:619188
HP:0000234	Abnormality of the head	3070	HELLS	ORPHA:2268
HP:0000234	Abnormality of the head	3070	HELLS	OMIM:616911
HP:0000234	Abnormality of the head	83879	CDCA7	ORPHA:2268
HP:0000234	Abnormality of the head	83879	CDCA7	OMIM:616910
HP:0000234	Abnormality of the head	84300	UQCC2	OMIM:615824
HP:0000234	Abnormality of the head	53834	FGFRL1	OMIM:194190
HP:0000234	Abnormality of the head	10801	SEPTIN9	OMIM:162100
HP:0000234	Abnormality of the head	7025	NR2F1	ORPHA:401777
HP:0000234	Abnormality of the head	7025	NR2F1	OMIM:615722
HP:0000234	Abnormality of the head	51660	MPC1	OMIM:614741
HP:0000234	Abnormality of the head	9508	ADAMTS3	ORPHA:2136
HP:0000234	Abnormality of the head	10908	PNPLA6	ORPHA:2377
HP:0000234	Abnormality of the head	5828	PEX2	OMIM:614866
HP:0000234	Abnormality of the head	5828	PEX2	ORPHA:912
HP:0000234	Abnormality of the head	3211	HOXB1	OMIM:614744
HP:0000234	Abnormality of the head	54499	TMCO1	OMIM:213980
HP:0000234	Abnormality of the head	54499	TMCO1	ORPHA:1394
HP:0000234	Abnormality of the head	283209	PGM2L1	OMIM:620191
HP:0000234	Abnormality of the head	51611	DPH5	OMIM:620070
HP:0000234	Abnormality of the head	79228	THOC6	ORPHA:363444
HP:0000234	Abnormality of the head	8050	PDHX	OMIM:245349
HP:0000234	Abnormality of the head	5594	MAPK1	OMIM:619087
HP:0000234	Abnormality of the head	10430	TMEM147	OMIM:620075
HP:0000234	Abnormality of the head	8504	PEX3	OMIM:614882
HP:0000234	Abnormality of the head	8504	PEX3	ORPHA:912
HP:0000234	Abnormality of the head	55275	VPS53	OMIM:615851
HP:0000234	Abnormality of the head	5824	PEX19	OMIM:614886
HP:0000234	Abnormality of the head	5824	PEX19	ORPHA:912
HP:0000234	Abnormality of the head	50945	TBX22	ORPHA:921
HP:0000234	Abnormality of the head	92154	MTSS2	OMIM:620086
HP:0000234	Abnormality of the head	5631	PRPS1	OMIM:300661
HP:0000234	Abnormality of the head	171023	ASXL1	OMIM:605039
HP:0000234	Abnormality of the head	55023	PHIP	ORPHA:589905
HP:0000234	Abnormality of the head	55023	PHIP	OMIM:617991
HP:0000234	Abnormality of the head	5781	PTPN11	OMIM:151100
HP:0000234	Abnormality of the head	5781	PTPN11	OMIM:163950
HP:0000234	Abnormality of the head	22907	DHX30	OMIM:617804
HP:0000234	Abnormality of the head	2245	FGD1	ORPHA:915
HP:0000234	Abnormality of the head	1144	CHRND	OMIM:253290
HP:0000234	Abnormality of the head	1134	CHRNA1	OMIM:253290
HP:0000234	Abnormality of the head	55670	PEX26	ORPHA:912
HP:0000234	Abnormality of the head	8799	PEX11B	ORPHA:912
HP:0000234	Abnormality of the head	9409	PEX16	ORPHA:912
HP:0000234	Abnormality of the head	5190	PEX6	ORPHA:912
HP:0000234	Abnormality of the head	5193	PEX12	ORPHA:912
HP:0000234	Abnormality of the head	5194	PEX13	ORPHA:912
HP:0000234	Abnormality of the head	5195	PEX14	ORPHA:912
HP:0000234	Abnormality of the head	5192	PEX10	ORPHA:912
HP:0000234	Abnormality of the head	84627	ZNF469	OMIM:229200
HP:0000234	Abnormality of the head	9780	PIEZO1	OMIM:616843
HP:0000234	Abnormality of the head	23394	ADNP	OMIM:615873
HP:0000234	Abnormality of the head	10586	MAB21L2	OMIM:615877
HP:0000234	Abnormality of the head	85358	SHANK3	OMIM:606232
HP:0000234	Abnormality of the head	85358	SHANK3	ORPHA:48652
HP:0000234	Abnormality of the head	5859	QARS1	OMIM:615760
HP:0000234	Abnormality of the head	10982	MAPRE2	OMIM:616734
HP:0000234	Abnormality of the head	10982	MAPRE2	ORPHA:2505
HP:0000234	Abnormality of the head	55033	FKBP14	OMIM:614557
HP:0000234	Abnormality of the head	5053	PAH	ORPHA:2209
HP:0000234	Abnormality of the head	4131	MAP1B	OMIM:618918
HP:0000234	Abnormality of the head	101929726	MYMX	ORPHA:1358
HP:0000234	Abnormality of the head	5925	RB1	ORPHA:1587
HP:0000234	Abnormality of the head	23511	NUP188	OMIM:618804
HP:0000234	Abnormality of the head	64131	XYLT1	OMIM:615777
HP:0000234	Abnormality of the head	10943	MSL3	OMIM:301032
HP:0000234	Abnormality of the head	84342	COG8	OMIM:611182
HP:0000234	Abnormality of the head	57511	COG6	OMIM:614576
HP:0000234	Abnormality of the head	83696	TRAPPC9	ORPHA:352530
HP:0000234	Abnormality of the head	4854	NOTCH3	ORPHA:2789
HP:0000234	Abnormality of the head	80781	COL18A1	ORPHA:1571
HP:0000234	Abnormality of the head	80781	COL18A1	OMIM:267750
HP:0000234	Abnormality of the head	5062	PAK2	ORPHA:1571
HP:0000234	Abnormality of the head	9361	LONP1	ORPHA:1458
HP:0000234	Abnormality of the head	6628	SNRPB	OMIM:117650
HP:0000234	Abnormality of the head	10367	MICU1	OMIM:615673
HP:0000234	Abnormality of the head	51002	TPRKB	OMIM:617731
HP:0000234	Abnormality of the head	4659	PPP1R12A	OMIM:618820
HP:0000234	Abnormality of the head	55617	TASP1	OMIM:618950
HP:0000234	Abnormality of the head	6182	MRPL12	OMIM:618951
HP:0000234	Abnormality of the head	55704	CCDC88A	OMIM:617507
HP:0000234	Abnormality of the head	26503	SLC17A5	OMIM:269920
HP:0000234	Abnormality of the head	1748	DLX4	OMIM:616788
HP:0000234	Abnormality of the head	1663	DDX11	OMIM:613398
HP:0000234	Abnormality of the head	5455	POU3F3	OMIM:618604
HP:0000234	Abnormality of the head	2186	BPTF	OMIM:617755
HP:0000234	Abnormality of the head	738	VPS51	OMIM:618606
HP:0000234	Abnormality of the head	6736	SRY	ORPHA:1772
HP:0000234	Abnormality of the head	84148	KAT8	OMIM:618974
HP:0000234	Abnormality of the head	8449	DHX16	OMIM:618733
HP:0000234	Abnormality of the head	5818	NECTIN1	OMIM:225060
HP:0000234	Abnormality of the head	4094	MAF	OMIM:601088
HP:0000234	Abnormality of the head	55107	ANO1	OMIM:620045
HP:0000234	Abnormality of the head	1009	CDH11	OMIM:211380
HP:0000234	Abnormality of the head	6513	SLC2A1	ORPHA:1942
HP:0000234	Abnormality of the head	8831	SYNGAP1	ORPHA:1942
HP:0000234	Abnormality of the head	1173	AP2M1	ORPHA:1942
HP:0000234	Abnormality of the head	6323	SCN1A	ORPHA:1942
HP:0000234	Abnormality of the head	340533	NEXMIF	ORPHA:1942
HP:0000234	Abnormality of the head	1106	CHD2	ORPHA:1942
HP:0000234	Abnormality of the head	6529	SLC6A1	ORPHA:1942
HP:0000234	Abnormality of the head	78989	COLEC11	OMIM:265050
HP:0000234	Abnormality of the head	5881	RAC3	OMIM:618577
HP:0000234	Abnormality of the head	51305	KCNK9	ORPHA:166108
HP:0000234	Abnormality of the head	4665	NAB2	ORPHA:2126
HP:0000234	Abnormality of the head	6778	STAT6	ORPHA:2126
HP:0000234	Abnormality of the head	63924	CIDEC	ORPHA:435651
HP:0000234	Abnormality of the head	2074	ERCC6	OMIM:133540
HP:0000234	Abnormality of the head	5468	PPARG	ORPHA:79083
HP:0000234	Abnormality of the head	5696	PSMB8	OMIM:256040
HP:0000234	Abnormality of the head	1161	ERCC8	OMIM:216400
HP:0000234	Abnormality of the head	3376	IARS1	OMIM:617093
HP:0000234	Abnormality of the head	3376	IARS1	ORPHA:541423
HP:0000234	Abnormality of the head	91754	NEK9	OMIM:614262
HP:0000234	Abnormality of the head	3008	H1-4	OMIM:617537
HP:0000234	Abnormality of the head	8675	STX16	ORPHA:94089
HP:0000234	Abnormality of the head	8882	ZPR1	OMIM:619321
HP:0000234	Abnormality of the head	63916	ELMO2	ORPHA:3019
HP:0000234	Abnormality of the head	1841	DTYMK	OMIM:619847
HP:0000234	Abnormality of the head	1363	CPE	OMIM:619326
HP:0000234	Abnormality of the head	55904	KMT2E	OMIM:618512
HP:0000234	Abnormality of the head	2542	SLC37A4	ORPHA:79259
HP:0000234	Abnormality of the head	10588	MTHFS	OMIM:618367
HP:0000234	Abnormality of the head	1020	CDK5	OMIM:616342
HP:0000234	Abnormality of the head	2248	FGF3	ORPHA:2791
HP:0000234	Abnormality of the head	5075	PAX1	ORPHA:2792
HP:0000234	Abnormality of the head	57096	RPGRIP1	ORPHA:564
HP:0000234	Abnormality of the head	5723	PSPH	ORPHA:79350
HP:0000234	Abnormality of the head	5332	PLCB4	ORPHA:137888
HP:0000234	Abnormality of the head	55975	KLHL7	OMIM:617055
HP:0000234	Abnormality of the head	55027	HEATR3	OMIM:620072
HP:0000234	Abnormality of the head	6452	SH3BP2	ORPHA:184
HP:0000234	Abnormality of the head	51124	IER3IP1	OMIM:614231
HP:0000234	Abnormality of the head	23067	SETD1B	OMIM:619000
HP:0000234	Abnormality of the head	6901	TAFAZZIN	OMIM:302060
HP:0000234	Abnormality of the head	9895	TECPR2	ORPHA:320385
HP:0000234	Abnormality of the head	23162	MAPK8IP3	OMIM:618443
HP:0000234	Abnormality of the head	23483	TGDS	OMIM:616145
HP:0000234	Abnormality of the head	23483	TGDS	ORPHA:1388
HP:0000234	Abnormality of the head	1968	EIF2S3	ORPHA:85282
HP:0000234	Abnormality of the head	8813	DPM1	ORPHA:79322
HP:0000234	Abnormality of the head	23529	CLCF1	ORPHA:1545
HP:0000234	Abnormality of the head	178	AGL	ORPHA:366
HP:0000234	Abnormality of the head	27445	PCLO	OMIM:608027
HP:0000234	Abnormality of the head	4054	LTBP3	OMIM:617809
HP:0000234	Abnormality of the head	3479	IGF1	ORPHA:73272
HP:0000234	Abnormality of the head	11113	CIT	OMIM:617090
HP:0000234	Abnormality of the head	10128	LRPPRC	OMIM:220111
HP:0000234	Abnormality of the head	25970	SH2B1	ORPHA:261222
HP:0000234	Abnormality of the head	55690	PACS1	OMIM:615009
HP:0000234	Abnormality of the head	55690	PACS1	ORPHA:329224
HP:0000234	Abnormality of the head	4081	MAB21L1	OMIM:618479
HP:0000234	Abnormality of the head	80055	PGAP1	OMIM:615802
HP:0000234	Abnormality of the head	55780	ERMARD	ORPHA:75857
HP:0000234	Abnormality of the head	5934	RBL2	OMIM:619690
HP:0000234	Abnormality of the head	83999	KREMEN1	OMIM:617392
HP:0000234	Abnormality of the head	55870	ASH1L	OMIM:617796
HP:0000234	Abnormality of the head	79029	AFG2B	OMIM:619616
HP:0000234	Abnormality of the head	128637	TBC1D20	OMIM:615663
HP:0000234	Abnormality of the head	57572	DOCK6	OMIM:614219
HP:0000234	Abnormality of the head	23476	BRD4	ORPHA:199
HP:0000234	Abnormality of the head	25836	NIPBL	ORPHA:199
HP:0000234	Abnormality of the head	5885	RAD21	ORPHA:199
HP:0000234	Abnormality of the head	22931	RAB18	OMIM:614222
HP:0000234	Abnormality of the head	85440	DOCK7	ORPHA:411986
HP:0000234	Abnormality of the head	85440	DOCK7	OMIM:615859
HP:0000234	Abnormality of the head	80036	TRPM3	OMIM:620224
HP:0000234	Abnormality of the head	5184	PEPD	ORPHA:742
HP:0000234	Abnormality of the head	253959	RALGAPA1	OMIM:618797
HP:0000234	Abnormality of the head	91875	TTC5	OMIM:619244
HP:0000234	Abnormality of the head	55691	FRMD4A	OMIM:616819
HP:0000234	Abnormality of the head	55691	FRMD4A	ORPHA:466688
HP:0000234	Abnormality of the head	10555	AGPAT2	ORPHA:528
HP:0000234	Abnormality of the head	284119	CAVIN1	ORPHA:528
HP:0000234	Abnormality of the head	2353	FOS	ORPHA:528
HP:0000234	Abnormality of the head	857	CAV1	ORPHA:528
HP:0000234	Abnormality of the head	6878	TAF6	OMIM:617126
HP:0000234	Abnormality of the head	9990	SLC12A6	OMIM:218000
HP:0000234	Abnormality of the head	2538	G6PC1	OMIM:232200
HP:0000234	Abnormality of the head	8635	RNASET2	OMIM:612951
HP:0000234	Abnormality of the head	6514	SLC2A2	ORPHA:2088
HP:0000234	Abnormality of the head	7528	YY1	ORPHA:506358
HP:0000234	Abnormality of the head	7528	YY1	OMIM:617557
HP:0000234	Abnormality of the head	5518	PPP2R1A	OMIM:616362
HP:0000234	Abnormality of the head	5518	PPP2R1A	ORPHA:457284
HP:0000234	Abnormality of the head	55768	NGLY1	OMIM:615273
HP:0000234	Abnormality of the head	55768	NGLY1	ORPHA:404454
HP:0000234	Abnormality of the head	27107	ZBTB11	OMIM:618383
HP:0000234	Abnormality of the head	2892	GRIA3	ORPHA:364028
HP:0000234	Abnormality of the head	23126	POGZ	OMIM:616364
HP:0000234	Abnormality of the head	23126	POGZ	ORPHA:468678
HP:0000234	Abnormality of the head	6418	SET	OMIM:618106
HP:0000234	Abnormality of the head	9499	MYOT	ORPHA:266
HP:0000234	Abnormality of the head	2548	GAA	ORPHA:308552
HP:0000234	Abnormality of the head	23030	KDM4B	OMIM:619320
HP:0000234	Abnormality of the head	200424	TET3	OMIM:618798
HP:0000234	Abnormality of the head	271	AMPD2	OMIM:615809
HP:0000234	Abnormality of the head	8242	KDM5C	OMIM:300534
HP:0000234	Abnormality of the head	10463	SLC30A9	OMIM:617595
HP:0000234	Abnormality of the head	1778	DYNC1H1	OMIM:614563
HP:0000234	Abnormality of the head	157680	VPS13B	OMIM:216550
HP:0000234	Abnormality of the head	1760	DMPK	ORPHA:589821
HP:0000234	Abnormality of the head	5081	PAX7	OMIM:618578
HP:0000234	Abnormality of the head	64132	XYLT2	ORPHA:85194
HP:0000234	Abnormality of the head	9230	RAB11B	OMIM:617807
HP:0000234	Abnormality of the head	2218	FKTN	ORPHA:272
HP:0000234	Abnormality of the head	2218	FKTN	OMIM:236670
HP:0000234	Abnormality of the head	3763	KCNJ6	ORPHA:435628
HP:0000234	Abnormality of the head	79876	UBA5	OMIM:617132
HP:0000234	Abnormality of the head	10159	ATP6AP2	ORPHA:363654
HP:0000234	Abnormality of the head	8106	PABPN1	ORPHA:270
HP:0000234	Abnormality of the head	8106	PABPN1	OMIM:164300
HP:0000234	Abnormality of the head	4361	MRE11	ORPHA:251347
HP:0000234	Abnormality of the head	22947	DUX4L1	ORPHA:269
HP:0000234	Abnormality of the head	2483	FRG1	ORPHA:269
HP:0000234	Abnormality of the head	23347	SMCHD1	ORPHA:269
HP:0000234	Abnormality of the head	100288687	DUX4	ORPHA:269
HP:0000234	Abnormality of the head	6535	SLC6A8	ORPHA:52503
HP:0000234	Abnormality of the head	7084	TK2	ORPHA:254886
HP:0000234	Abnormality of the head	5428	POLG	ORPHA:254886
HP:0000234	Abnormality of the head	5621	PRNP	ORPHA:157941
HP:0000234	Abnormality of the head	79152	FA2H	ORPHA:171629
HP:0000234	Abnormality of the head	5610	EIF2AK2	OMIM:618877
HP:0000234	Abnormality of the head	22954	TRIM32	ORPHA:1878
HP:0000234	Abnormality of the head	29954	POMT2	OMIM:236670
HP:0000234	Abnormality of the head	9215	LARGE1	OMIM:236670
HP:0000234	Abnormality of the head	79147	FKRP	OMIM:236670
HP:0000234	Abnormality of the head	10585	POMT1	OMIM:236670
HP:0000234	Abnormality of the head	7054	TH	OMIM:605407
HP:0000234	Abnormality of the head	5080	PAX6	ORPHA:1065
HP:0000234	Abnormality of the head	3708	ITPR1	ORPHA:1065
HP:0000234	Abnormality of the head	6575	SLC20A2	OMIM:213600
HP:0000234	Abnormality of the head	5155	PDGFB	OMIM:213600
HP:0000234	Abnormality of the head	23400	ATP13A2	OMIM:606693
HP:0000234	Abnormality of the head	538	ATP7A	ORPHA:565
HP:0000234	Abnormality of the head	80025	PANK2	ORPHA:216866
HP:0000234	Abnormality of the head	2747	GLUD2	OMIM:168600
HP:0000234	Abnormality of the head	126	ADH1C	OMIM:168600
HP:0000234	Abnormality of the head	4137	MAPT	OMIM:168600
HP:0000234	Abnormality of the head	4929	NR4A2	OMIM:168600
HP:0000234	Abnormality of the head	6908	TBP	OMIM:168600
HP:0000234	Abnormality of the head	4576	MT-TT	OMIM:168600
HP:0000234	Abnormality of the head	9627	SNCAIP	OMIM:168600
HP:0000234	Abnormality of the head	6311	ATXN2	OMIM:168600
HP:0000234	Abnormality of the head	6315	ATXN8OS	OMIM:168600
HP:0000234	Abnormality of the head	1639	DCTN1	OMIM:168605
HP:0000234	Abnormality of the head	6840	SVIL	OMIM:619040
HP:0000234	Abnormality of the head	535	ATP6V0A1	OMIM:619971
HP:0000234	Abnormality of the head	5521	PPP2R2B	OMIM:604326
HP:0000234	Abnormality of the head	111	ADCY5	OMIM:606703
HP:0000234	Abnormality of the head	111	ADCY5	ORPHA:324588
HP:0000234	Abnormality of the head	6712	SPTBN2	OMIM:600224
HP:0000234	Abnormality of the head	5582	PRKCG	OMIM:605361
HP:0000234	Abnormality of the head	208	AKT2	OMIM:240900
HP:0000234	Abnormality of the head	7809	BSND	ORPHA:89938
HP:0000234	Abnormality of the head	1188	CLCNKB	ORPHA:89938
HP:0000234	Abnormality of the head	1187	CLCNKA	ORPHA:89938
HP:0000234	Abnormality of the head	9630	GNA14	ORPHA:1063
HP:0000234	Abnormality of the head	388753	COA6	OMIM:616501
HP:0000234	Abnormality of the head	9338	TCEAL1	OMIM:301094
HP:0000234	Abnormality of the head	6531	SLC6A3	OMIM:613135
HP:0000234	Abnormality of the head	6531	SLC6A3	ORPHA:238455
HP:0000234	Abnormality of the head	10935	PRDX3	OMIM:619862
HP:0000234	Abnormality of the head	25793	FBXO7	ORPHA:171695
HP:0000234	Abnormality of the head	25793	FBXO7	OMIM:260300
HP:0000234	Abnormality of the head	80347	COASY	OMIM:618266
HP:0000234	Abnormality of the head	9918	NCAPD2	OMIM:617983
HP:0000234	Abnormality of the head	3483	IGFALS	ORPHA:140941
HP:0000234	Abnormality of the head	5826	ABCD4	OMIM:614857
HP:0000234	Abnormality of the head	2065	ERBB3	OMIM:607598
HP:0000234	Abnormality of the head	537	ATP6AP1	OMIM:300972
HP:0000234	Abnormality of the head	3081	HGD	ORPHA:56
HP:0000234	Abnormality of the head	87	ACTN1	OMIM:615193
HP:0000234	Abnormality of the head	2057	EPOR	ORPHA:90042
HP:0000234	Abnormality of the head	5568	PRKACG	OMIM:616176
HP:0000234	Abnormality of the head	2120	ETV6	OMIM:616216
HP:0000234	Abnormality of the head	10235	RASGRP2	OMIM:615888
HP:0000234	Abnormality of the head	23218	NBEAL2	OMIM:139090
HP:0000234	Abnormality of the head	23218	NBEAL2	ORPHA:721
HP:0000234	Abnormality of the head	2533	FYB1	OMIM:273900
HP:0000234	Abnormality of the head	51206	GP6	OMIM:614201
HP:0000234	Abnormality of the head	2160	F11	ORPHA:329
HP:0000234	Abnormality of the head	861	RUNX1	OMIM:601399
HP:0000234	Abnormality of the head	776	CACNA1D	ORPHA:369929
HP:0000234	Abnormality of the head	55340	GIMAP5	OMIM:619463
HP:0000234	Abnormality of the head	5328	PLAU	OMIM:601709
HP:0000234	Abnormality of the head	342618	SLFN14	OMIM:616913
HP:0000234	Abnormality of the head	7450	VWF	OMIM:193400
HP:0000234	Abnormality of the head	7450	VWF	OMIM:613554
HP:0000234	Abnormality of the head	7450	VWF	OMIM:277480
HP:0000234	Abnormality of the head	83706	FERMT3	OMIM:612840
HP:0000234	Abnormality of the head	5205	ATP8B1	OMIM:211600
HP:0000234	Abnormality of the head	64805	P2RY12	OMIM:609821
HP:0000234	Abnormality of the head	5054	SERPINE1	ORPHA:465
HP:0000234	Abnormality of the head	89781	HPS4	OMIM:614073
HP:0000234	Abnormality of the head	11234	HPS5	OMIM:614074
HP:0000234	Abnormality of the head	79803	HPS6	OMIM:614075
HP:0000234	Abnormality of the head	84062	DTNBP1	OMIM:614076
HP:0000234	Abnormality of the head	5921	RASA1	ORPHA:137667
HP:0000234	Abnormality of the head	6915	TBXA2R	OMIM:614009
HP:0000234	Abnormality of the head	1181	CLCN2	ORPHA:404
HP:0000234	Abnormality of the head	1584	CYP11B1	ORPHA:403
HP:0000234	Abnormality of the head	1585	CYP11B2	ORPHA:403
HP:0000234	Abnormality of the head	8328	GFI1B	OMIM:187900
HP:0000234	Abnormality of the head	64220	STRA6	OMIM:601186
HP:0000234	Abnormality of the head	745	MYRF	OMIM:618280
HP:0000234	Abnormality of the head	114928	GPRASP2	OMIM:301018
HP:0000234	Abnormality of the head	95	ACY1	ORPHA:137754
HP:0000234	Abnormality of the head	4193	MDM2	OMIM:618681
HP:0000234	Abnormality of the head	658	BMPR1B	ORPHA:2639
HP:0000234	Abnormality of the head	6786	STIM1	OMIM:185070
HP:0000234	Abnormality of the head	8218	CLTCL1	ORPHA:453510
HP:0000234	Abnormality of the head	4072	EPCAM	ORPHA:92050
HP:0000234	Abnormality of the head	105371045	PERCC1	ORPHA:92050
HP:0000234	Abnormality of the head	170692	ADAMTS18	OMIM:615458
HP:0000234	Abnormality of the head	3170	FOXA2	ORPHA:95494
HP:0000234	Abnormality of the head	199221	DZIP1L	ORPHA:731
HP:0000234	Abnormality of the head	4808	NHLH2	OMIM:619755
HP:0000234	Abnormality of the head	5264	PHYH	OMIM:266500
HP:0000234	Abnormality of the head	5264	PHYH	ORPHA:773
HP:0000234	Abnormality of the head	9927	MFN2	OMIM:601152
HP:0000234	Abnormality of the head	5792	PTPRF	OMIM:616001
HP:0000234	Abnormality of the head	8733	GPAA1	ORPHA:529665
HP:0000234	Abnormality of the head	8733	GPAA1	OMIM:617810
HP:0000234	Abnormality of the head	92840	REEP6	ORPHA:791
HP:0000234	Abnormality of the head	6094	ROM1	ORPHA:791
HP:0000234	Abnormality of the head	6017	RLBP1	ORPHA:791
HP:0000234	Abnormality of the head	7401	CLRN1	ORPHA:791
HP:0000234	Abnormality of the head	24	ABCA4	ORPHA:791
HP:0000234	Abnormality of the head	130557	ZNF513	ORPHA:791
HP:0000234	Abnormality of the head	92211	CDHR1	ORPHA:791
HP:0000234	Abnormality of the head	23568	ARL2BP	ORPHA:791
HP:0000234	Abnormality of the head	6101	RP1	ORPHA:791
HP:0000234	Abnormality of the head	3419	IDH3A	ORPHA:791
HP:0000234	Abnormality of the head	4751	NEK2	ORPHA:791
HP:0000234	Abnormality of the head	346007	EYS	ORPHA:791
HP:0000234	Abnormality of the head	8100	IFT88	ORPHA:791
HP:0000234	Abnormality of the head	23020	SNRNP200	ORPHA:791
HP:0000234	Abnormality of the head	762	CA4	ORPHA:791
HP:0000234	Abnormality of the head	196	AHR	ORPHA:791
HP:0000234	Abnormality of the head	5148	PDE6G	ORPHA:791
HP:0000234	Abnormality of the head	26121	PRPF31	ORPHA:791
HP:0000234	Abnormality of the head	4117	MAK	ORPHA:791
HP:0000234	Abnormality of the head	25794	FSCN2	ORPHA:791
HP:0000234	Abnormality of the head	375298	CERKL	ORPHA:791
HP:0000234	Abnormality of the head	3420	IDH3B	ORPHA:791
HP:0000234	Abnormality of the head	57670	KIAA1549	ORPHA:791
HP:0000234	Abnormality of the head	7275	TUB	ORPHA:791
HP:0000234	Abnormality of the head	24148	PRPF6	ORPHA:791
HP:0000234	Abnormality of the head	10461	MERTK	ORPHA:791
HP:0000234	Abnormality of the head	57709	SLC7A14	ORPHA:791
HP:0000234	Abnormality of the head	768206	PRCD	ORPHA:791
HP:0000234	Abnormality of the head	7399	USH2A	ORPHA:791
HP:0000234	Abnormality of the head	23370	ARHGEF18	ORPHA:791
HP:0000234	Abnormality of the head	5949	RBP3	ORPHA:791
HP:0000234	Abnormality of the head	6010	RHO	ORPHA:791
HP:0000234	Abnormality of the head	6100	RP9	ORPHA:791
HP:0000234	Abnormality of the head	10002	NR2E3	ORPHA:791
HP:0000234	Abnormality of the head	84140	FAM161A	ORPHA:791
HP:0000234	Abnormality of the head	5145	PDE6A	ORPHA:791
HP:0000234	Abnormality of the head	8842	PROM1	ORPHA:791
HP:0000234	Abnormality of the head	9128	PRPF4	ORPHA:791
HP:0000234	Abnormality of the head	50939	IMPG2	ORPHA:791
HP:0000234	Abnormality of the head	2979	GUCA1B	ORPHA:791
HP:0000234	Abnormality of the head	1259	CNGA1	ORPHA:791
HP:0000234	Abnormality of the head	1258	CNGB1	ORPHA:791
HP:0000234	Abnormality of the head	60509	AGBL5	ORPHA:791
HP:0000234	Abnormality of the head	5961	PRPH2	ORPHA:791
HP:0000234	Abnormality of the head	388939	PCARE	ORPHA:791
HP:0000234	Abnormality of the head	9785	DHX38	ORPHA:791
HP:0000234	Abnormality of the head	5995	RGR	ORPHA:791
HP:0000234	Abnormality of the head	9129	PRPF3	ORPHA:791
HP:0000234	Abnormality of the head	3617	IMPG1	ORPHA:791
HP:0000234	Abnormality of the head	94137	RP1L1	ORPHA:791
HP:0000234	Abnormality of the head	5158	PDE6B	ORPHA:791
HP:0000234	Abnormality of the head	6102	RP2	ORPHA:791
HP:0000234	Abnormality of the head	55857	KIZ	ORPHA:791
HP:0000234	Abnormality of the head	64218	SEMA4A	ORPHA:791
HP:0000234	Abnormality of the head	4901	NRL	ORPHA:791
HP:0000234	Abnormality of the head	10594	PRPF8	ORPHA:791
HP:0000234	Abnormality of the head	6295	SAG	ORPHA:791
HP:0000234	Abnormality of the head	5119	CHMP1A	OMIM:614961
HP:0000234	Abnormality of the head	4848	CNOT2	OMIM:618608
HP:0000234	Abnormality of the head	92482	BBIP1	ORPHA:110
HP:0000234	Abnormality of the head	49855	SCAPER	ORPHA:110
HP:0000234	Abnormality of the head	27241	BBS9	ORPHA:110
HP:0000234	Abnormality of the head	84984	CEP19	ORPHA:110
HP:0000234	Abnormality of the head	79738	BBS10	ORPHA:110
HP:0000234	Abnormality of the head	123016	TTC8	ORPHA:110
HP:0000234	Abnormality of the head	26160	IFT172	ORPHA:110
HP:0000234	Abnormality of the head	583	BBS2	ORPHA:110
HP:0000234	Abnormality of the head	585	BBS4	ORPHA:110
HP:0000234	Abnormality of the head	8195	MKKS	ORPHA:110
HP:0000234	Abnormality of the head	166379	BBS12	ORPHA:110
HP:0000234	Abnormality of the head	10806	SDCCAG8	ORPHA:110
HP:0000234	Abnormality of the head	157657	CFAP418	ORPHA:110
HP:0000234	Abnormality of the head	129880	BBS5	ORPHA:110
HP:0000234	Abnormality of the head	7372	UMPS	ORPHA:30
HP:0000234	Abnormality of the head	55148	UBR7	OMIM:619189
HP:0000234	Abnormality of the head	8929	PHOX2B	OMIM:209880
HP:0000234	Abnormality of the head	9181	ARHGEF2	OMIM:617523
HP:0000234	Abnormality of the head	348	APOE	ORPHA:158029
HP:0000234	Abnormality of the head	6868	ADAM17	OMIM:614328
HP:0000234	Abnormality of the head	6868	ADAM17	ORPHA:294023
HP:0000234	Abnormality of the head	7454	WAS	ORPHA:906
HP:0000234	Abnormality of the head	7456	WIPF1	ORPHA:906
HP:0000234	Abnormality of the head	10095	ARPC1B	OMIM:617718
HP:0000234	Abnormality of the head	6768	ST14	OMIM:602400
HP:0000234	Abnormality of the head	55630	SLC39A4	ORPHA:37
HP:0000234	Abnormality of the head	10758	TRAF3IP2	OMIM:615527
HP:0000234	Abnormality of the head	1474	CST6	OMIM:618535
HP:0000234	Abnormality of the head	6307	MSMO1	OMIM:616834
HP:0000234	Abnormality of the head	1956	EGFR	ORPHA:294023
HP:0000234	Abnormality of the head	7507	XPA	ORPHA:910
HP:0000234	Abnormality of the head	7508	XPC	ORPHA:910
HP:0000234	Abnormality of the head	1643	DDB2	ORPHA:910
HP:0000234	Abnormality of the head	2073	ERCC5	ORPHA:910
HP:0000234	Abnormality of the head	147409	DSG4	ORPHA:573
HP:0000234	Abnormality of the head	3892	KRT86	ORPHA:573
HP:0000234	Abnormality of the head	3889	KRT83	ORPHA:573
HP:0000234	Abnormality of the head	3887	KRT81	ORPHA:573
HP:0000234	Abnormality of the head	1041	CDSN	ORPHA:90368
HP:0000234	Abnormality of the head	121391	KRT74	ORPHA:90368
HP:0000234	Abnormality of the head	121391	KRT74	OMIM:194300
HP:0000234	Abnormality of the head	121391	KRT74	OMIM:613981
HP:0000234	Abnormality of the head	124583	CANT1	ORPHA:1425
HP:0000234	Abnormality of the head	80169	CTC1	ORPHA:1775
HP:0000234	Abnormality of the head	26277	TINF2	ORPHA:1775
HP:0000234	Abnormality of the head	55651	NHP2	ORPHA:1775
HP:0000234	Abnormality of the head	55135	WRAP53	ORPHA:1775
HP:0000234	Abnormality of the head	51750	RTEL1	ORPHA:1775
HP:0000234	Abnormality of the head	4869	NPM1	ORPHA:1775
HP:0000234	Abnormality of the head	7012	TERC	ORPHA:1775
HP:0000234	Abnormality of the head	55505	NOP10	ORPHA:1775
HP:0000234	Abnormality of the head	5073	PARN	ORPHA:1775
HP:0000234	Abnormality of the head	1736	DKC1	ORPHA:1775
HP:0000234	Abnormality of the head	7298	TYMS	ORPHA:1775
HP:0000234	Abnormality of the head	355	FAS	ORPHA:3437
HP:0000234	Abnormality of the head	26191	PTPN22	ORPHA:3437
HP:0000234	Abnormality of the head	5333	PLCD1	ORPHA:2387
HP:0000234	Abnormality of the head	3851	KRT4	OMIM:193900
HP:0000234	Abnormality of the head	55129	ANO10	ORPHA:284289
HP:0000234	Abnormality of the head	55129	ANO10	OMIM:613728
HP:0000234	Abnormality of the head	7299	TYR	ORPHA:895
HP:0000234	Abnormality of the head	4254	KITLG	ORPHA:895
HP:0000234	Abnormality of the head	4254	KITLG	OMIM:619947
HP:0000234	Abnormality of the head	1776	DNASE1L3	ORPHA:36412
HP:0000234	Abnormality of the head	8676	STX11	OMIM:603552
HP:0000234	Abnormality of the head	162	AP1B1	OMIM:242150
HP:0000234	Abnormality of the head	7086	TKT	ORPHA:488618
HP:0000234	Abnormality of the head	7037	TFRC	OMIM:616740
HP:0000234	Abnormality of the head	686	BTD	OMIM:253260
HP:0000234	Abnormality of the head	686	BTD	ORPHA:79241
HP:0000234	Abnormality of the head	3978	LIG1	OMIM:619774
HP:0000234	Abnormality of the head	23064	SETX	OMIM:606002
HP:0000234	Abnormality of the head	2250	FGF5	OMIM:190330
HP:0000234	Abnormality of the head	1174	AP1S1	OMIM:609313
HP:0000234	Abnormality of the head	51116	MRPS2	OMIM:617950
HP:0000234	Abnormality of the head	330	BIRC3	ORPHA:52417
HP:0000234	Abnormality of the head	3492	IGH	ORPHA:52417
HP:0000234	Abnormality of the head	8915	BCL10	ORPHA:52417
HP:0000234	Abnormality of the head	220	ALDH1A3	OMIM:615113
HP:0000234	Abnormality of the head	5429	POLH	OMIM:278750
HP:0000234	Abnormality of the head	8363	H4C11	OMIM:619759
HP:0000234	Abnormality of the head	9969	MED13	OMIM:618009
HP:0000234	Abnormality of the head	81570	CLPB	OMIM:616271
HP:0000234	Abnormality of the head	368	ABCC6	ORPHA:51608
HP:0000234	Abnormality of the head	24140	FTSJ1	OMIM:309549
HP:0000234	Abnormality of the head	8120	AP3B2	OMIM:617276
HP:0000234	Abnormality of the head	649	BMP1	OMIM:614856
HP:0000234	Abnormality of the head	1816	DRD5	OMIM:606798
HP:0000234	Abnormality of the head	2512	FTL	OMIM:606159
HP:0000234	Abnormality of the head	2512	FTL	ORPHA:157846
HP:0000234	Abnormality of the head	63982	ANO3	OMIM:615034
HP:0000234	Abnormality of the head	63982	ANO3	ORPHA:420485
HP:0000234	Abnormality of the head	55145	THAP1	ORPHA:98806
HP:0000234	Abnormality of the head	3208	HPCA	ORPHA:99657
HP:0000234	Abnormality of the head	3208	HPCA	OMIM:224500
HP:0000234	Abnormality of the head	51102	MECR	OMIM:617282
HP:0000234	Abnormality of the head	56910	STARD7	OMIM:607876
HP:0000234	Abnormality of the head	79734	KCTD17	OMIM:616398
HP:0000234	Abnormality of the head	7286	TUFT1	OMIM:607655
HP:0000234	Abnormality of the head	374393	FAM111B	OMIM:615704
HP:0000234	Abnormality of the head	79092	CARD14	OMIM:173200
HP:0000234	Abnormality of the head	285848	PNPLA1	ORPHA:79394
HP:0000234	Abnormality of the head	283987	HID1	OMIM:619983
HP:0000234	Abnormality of the head	55280	CWF19L1	OMIM:616127
HP:0000234	Abnormality of the head	55280	CWF19L1	ORPHA:453521
HP:0000234	Abnormality of the head	387119	CEP85L	OMIM:618873
HP:0000234	Abnormality of the head	229	ALDOB	OMIM:229600
HP:0000234	Abnormality of the head	123041	SLC24A4	OMIM:615887
HP:0000234	Abnormality of the head	162514	TRPV3	ORPHA:659
HP:0000234	Abnormality of the head	64065	PERP	ORPHA:659
HP:0000234	Abnormality of the head	9622	KLK4	OMIM:204700
HP:0000234	Abnormality of the head	4322	MMP13	ORPHA:2501
HP:0000234	Abnormality of the head	80067	DCAF17	OMIM:241080
HP:0000234	Abnormality of the head	80067	DCAF17	ORPHA:3464
HP:0000234	Abnormality of the head	5424	POLD1	OMIM:615381
HP:0000234	Abnormality of the head	10117	ENAM	OMIM:204650
HP:0000234	Abnormality of the head	64094	SMOC2	OMIM:125400
HP:0000234	Abnormality of the head	79955	PDZD7	ORPHA:231178
HP:0000234	Abnormality of the head	4647	MYO7A	ORPHA:231178
HP:0000234	Abnormality of the head	4647	MYO7A	ORPHA:231169
HP:0000234	Abnormality of the head	25861	WHRN	ORPHA:231178
HP:0000234	Abnormality of the head	84059	ADGRV1	ORPHA:231178
HP:0000234	Abnormality of the head	26504	CNNM4	ORPHA:1873
HP:0000234	Abnormality of the head	10083	USH1C	ORPHA:231169
HP:0000234	Abnormality of the head	83715	ESPN	ORPHA:231169
HP:0000234	Abnormality of the head	10518	CIB2	ORPHA:231169
HP:0000234	Abnormality of the head	65217	PCDH15	ORPHA:231169
HP:0000234	Abnormality of the head	64581	CLEC7A	ORPHA:1334
HP:0000234	Abnormality of the head	112744	IL17F	ORPHA:1334
HP:0000234	Abnormality of the head	8200	GDF5	ORPHA:63442
HP:0000234	Abnormality of the head	79977	GRHL2	OMIM:616029
HP:0000234	Abnormality of the head	1476	CSTB	ORPHA:248
HP:0000234	Abnormality of the head	90	ACVR1	OMIM:135100
HP:0000234	Abnormality of the head	286077	FAM83H	OMIM:130900
HP:0000234	Abnormality of the head	6603	SMARCD2	OMIM:617475
HP:0000234	Abnormality of the head	55081	IFT57	OMIM:617927
HP:0000234	Abnormality of the head	6678	SPARC	OMIM:616507
HP:0000234	Abnormality of the head	5176	SERPINF1	OMIM:613982
HP:0000234	Abnormality of the head	149461	CLDN19	OMIM:248190
HP:0000234	Abnormality of the head	3141	HLCS	ORPHA:79242
HP:0000234	Abnormality of the head	326	AIRE	OMIM:240300
HP:0000234	Abnormality of the head	4547	MTTP	ORPHA:14
HP:0000234	Abnormality of the head	255738	PCSK9	OMIM:603776
HP:0000234	Abnormality of the head	338	APOB	OMIM:144010
HP:0000234	Abnormality of the head	336	APOA2	OMIM:143890
HP:0000234	Abnormality of the head	2053	EPHX2	OMIM:143890
HP:0000234	Abnormality of the head	10842	PPP1R17	OMIM:143890
HP:0000234	Abnormality of the head	3949	LDLR	OMIM:143890
HP:0000234	Abnormality of the head	1593	CYP27A1	OMIM:213700
HP:0000234	Abnormality of the head	4023	LPL	OMIM:144250
HP:0000234	Abnormality of the head	7274	TTPA	OMIM:277460
HP:0000234	Abnormality of the head	64241	ABCG8	OMIM:210250
HP:0000234	Abnormality of the head	335	APOA1	ORPHA:425
HP:0000234	Abnormality of the head	158326	FREM1	ORPHA:2717
HP:0000234	Abnormality of the head	158326	FREM1	OMIM:248450
HP:0000234	Abnormality of the head	2706	GJB2	OMIM:148210
HP:0000234	Abnormality of the head	1282	COL4A1	OMIM:180000
HP:0000234	Abnormality of the head	1282	COL4A1	OMIM:611773
HP:0000234	Abnormality of the head	1282	COL4A1	OMIM:175780
HP:0000234	Abnormality of the head	4693	NDP	ORPHA:90050
HP:0000234	Abnormality of the head	8322	FZD4	ORPHA:90050
HP:0000234	Abnormality of the head	4508	MT-ATP6	ORPHA:644
HP:0000234	Abnormality of the head	207	AKT1	OMIM:176920
HP:0000234	Abnormality of the head	6299	SALL1	ORPHA:857
HP:0000234	Abnormality of the head	51339	DACT1	ORPHA:857
HP:0000234	Abnormality of the head	64856	VWA1	OMIM:619216
HP:0000234	Abnormality of the head	55005	RMND1	OMIM:614922
HP:0000234	Abnormality of the head	6606	SMN1	OMIM:271150
HP:0000234	Abnormality of the head	6606	SMN1	OMIM:253300
HP:0000234	Abnormality of the head	6606	SMN1	OMIM:253400
HP:0000234	Abnormality of the head	6606	SMN1	OMIM:253550
HP:0000234	Abnormality of the head	8087	FXR1	OMIM:618822
HP:0000234	Abnormality of the head	8087	FXR1	OMIM:618823
HP:0000234	Abnormality of the head	6607	SMN2	OMIM:253400
HP:0000234	Abnormality of the head	7259	TSPYL1	OMIM:608800
HP:0000234	Abnormality of the head	1959	EGR2	OMIM:145900
HP:0000234	Abnormality of the head	291	SLC25A4	ORPHA:254892
HP:0000234	Abnormality of the head	11232	POLG2	ORPHA:254892
HP:0000234	Abnormality of the head	4359	MPZ	OMIM:618184
HP:0000234	Abnormality of the head	91574	MTRFR	ORPHA:254930
HP:0000234	Abnormality of the head	91574	MTRFR	OMIM:613559
HP:0000234	Abnormality of the head	112	ADCY6	OMIM:616287
HP:0000234	Abnormality of the head	1410	CRYAB	ORPHA:399058
HP:0000234	Abnormality of the head	84665	MYPN	ORPHA:171439
HP:0000234	Abnormality of the head	390594	KBTBD13	ORPHA:171439
HP:0000234	Abnormality of the head	10324	KLHL41	ORPHA:171439
HP:0000234	Abnormality of the head	10324	KLHL41	ORPHA:171436
HP:0000234	Abnormality of the head	10324	KLHL41	ORPHA:171433
HP:0000234	Abnormality of the head	10324	KLHL41	ORPHA:171430
HP:0000234	Abnormality of the head	19	ABCA1	OMIM:205400
HP:0000234	Abnormality of the head	19	ABCA1	ORPHA:31150
HP:0000234	Abnormality of the head	113278	SLC52A3	OMIM:211500
HP:0000234	Abnormality of the head	9997	SCO2	ORPHA:521411
HP:0000234	Abnormality of the head	56203	LMOD3	ORPHA:171436
HP:0000234	Abnormality of the head	56203	LMOD3	ORPHA:171430
HP:0000234	Abnormality of the head	8803	SUCLA2	OMIM:612073
HP:0000234	Abnormality of the head	6472	SHMT2	OMIM:619121
HP:0000234	Abnormality of the head	131377	KLHL40	ORPHA:171430
HP:0000234	Abnormality of the head	10730	YME1L1	OMIM:617302
HP:0000234	Abnormality of the head	104	ADARB1	OMIM:618862
HP:0000234	Abnormality of the head	56896	DPYSL5	OMIM:619435
HP:0000234	Abnormality of the head	26999	CYFIP2	OMIM:618008
HP:0000234	Abnormality of the head	9935	MAFB	ORPHA:233
HP:0000234	Abnormality of the head	1123	CHN1	ORPHA:233
HP:0000234	Abnormality of the head	112858	TP53RK	OMIM:617730
HP:0000234	Abnormality of the head	490	ATP2B1	OMIM:619910
HP:0000234	Abnormality of the head	58508	KMT2C	ORPHA:261652
HP:0000234	Abnormality of the head	58508	KMT2C	OMIM:617768
HP:0000234	Abnormality of the head	57502	NLGN4X	OMIM:300495
HP:0000234	Abnormality of the head	5430	POLR2A	OMIM:618603
HP:0000234	Abnormality of the head	1807	DPYS	OMIM:222748
HP:0000234	Abnormality of the head	58497	PRUNE1	OMIM:617481
HP:0000234	Abnormality of the head	58497	PRUNE1	ORPHA:544469
HP:0000234	Abnormality of the head	10535	RNASEH2A	ORPHA:51
HP:0000234	Abnormality of the head	84153	RNASEH2C	ORPHA:51
HP:0000234	Abnormality of the head	25939	SAMHD1	ORPHA:51
HP:0000234	Abnormality of the head	79621	RNASEH2B	ORPHA:51
HP:0000234	Abnormality of the head	103	ADAR	ORPHA:51
HP:0000234	Abnormality of the head	100147744	RNU7-1	ORPHA:51
HP:0000234	Abnormality of the head	134353	LSM11	ORPHA:51
HP:0000234	Abnormality of the head	54567	DLL4	OMIM:616589
HP:0000234	Abnormality of the head	54567	DLL4	ORPHA:1114
HP:0000234	Abnormality of the head	54567	DLL4	ORPHA:974
HP:0000234	Abnormality of the head	57514	ARHGAP31	OMIM:100300
HP:0000234	Abnormality of the head	57514	ARHGAP31	ORPHA:974
HP:0000234	Abnormality of the head	197131	UBR1	OMIM:243800
HP:0000234	Abnormality of the head	9790	BMS1	ORPHA:1114
HP:0000234	Abnormality of the head	3691	ITGB4	ORPHA:1114
HP:0000234	Abnormality of the head	3516	RBPJ	ORPHA:974
HP:0000234	Abnormality of the head	4851	NOTCH1	ORPHA:974
HP:0000234	Abnormality of the head	285203	EOGT	ORPHA:974
HP:0000234	Abnormality of the head	64116	SLC39A8	OMIM:616721
HP:0000234	Abnormality of the head	64116	SLC39A8	ORPHA:468699
HP:0000234	Abnormality of the head	26115	TANC2	OMIM:618906
HP:0000234	Abnormality of the head	27245	AHDC1	ORPHA:412069
HP:0000234	Abnormality of the head	10157	AASS	ORPHA:2203
HP:0000234	Abnormality of the head	10265	IRX5	OMIM:611174
HP:0000234	Abnormality of the head	4091	SMAD6	OMIM:617439
HP:0000234	Abnormality of the head	29968	PSAT1	ORPHA:284417
HP:0000234	Abnormality of the head	29980	DONSON	OMIM:251230
HP:0000234	Abnormality of the head	149371	EXOC8	OMIM:619076
HP:0000234	Abnormality of the head	92002	CCNQ	OMIM:300707
HP:0000234	Abnormality of the head	157570	ESCO2	ORPHA:3103
HP:0000234	Abnormality of the head	157570	ESCO2	OMIM:268300
HP:0000234	Abnormality of the head	56603	CYP26B1	OMIM:614416
HP:0000234	Abnormality of the head	3852	KRT5	ORPHA:79396
HP:0000234	Abnormality of the head	3861	KRT14	ORPHA:79396
HP:0000234	Abnormality of the head	401	PHOX2A	OMIM:602078
HP:0000234	Abnormality of the head	10274	STAG1	ORPHA:502434
HP:0000234	Abnormality of the head	7480	WNT10B	OMIM:617073
HP:0000234	Abnormality of the head	64388	GREM2	OMIM:617275
HP:0000234	Abnormality of the head	545	ATR	OMIM:210600
HP:0000234	Abnormality of the head	5294	PIK3CG	OMIM:619802
HP:0000234	Abnormality of the head	4312	MMP1	ORPHA:79408
HP:0000234	Abnormality of the head	1294	COL7A1	ORPHA:79408
HP:0000234	Abnormality of the head	1294	COL7A1	ORPHA:79409
HP:0000234	Abnormality of the head	1294	COL7A1	ORPHA:79410
HP:0000234	Abnormality of the head	1294	COL7A1	ORPHA:79411
HP:0000234	Abnormality of the head	126326	GIPC3	OMIM:601869
HP:0000234	Abnormality of the head	9254	CACNA2D2	OMIM:618501
HP:0000234	Abnormality of the head	24137	KIF4A	OMIM:300923
HP:0000234	Abnormality of the head	3748	KCNC3	ORPHA:98768
HP:0000234	Abnormality of the head	3718	JAK3	ORPHA:35078
HP:0000234	Abnormality of the head	29929	ALG6	ORPHA:79320
HP:0000234	Abnormality of the head	4126	MANBA	ORPHA:118
HP:0000234	Abnormality of the head	4126	MANBA	OMIM:248510
HP:0000234	Abnormality of the head	51621	KLF13	OMIM:612001
HP:0000234	Abnormality of the head	2464	FRA16E	OMIM:136570
HP:0000234	Abnormality of the head	22796	COG2	ORPHA:435934
HP:0000234	Abnormality of the head	131118	DNAJC19	ORPHA:66634
HP:0000234	Abnormality of the head	23309	SIN3B	ORPHA:500166
HP:0000234	Abnormality of the head	55777	MBD5	OMIM:156200
HP:0000234	Abnormality of the head	10664	CTCF	ORPHA:363611
HP:0000234	Abnormality of the head	4123	MAN2C1	OMIM:619775
HP:0000234	Abnormality of the head	259232	NALCN	OMIM:616266
HP:0000234	Abnormality of the head	64327	LMBR1	ORPHA:2378
HP:0000234	Abnormality of the head	79005	SCNM1	OMIM:620107
HP:0000234	Abnormality of the head	1063	CENPF	OMIM:243605
HP:0000234	Abnormality of the head	415	ARSL	ORPHA:79345
HP:0000234	Abnormality of the head	71	ACTG1	ORPHA:2995
HP:0000234	Abnormality of the head	60	ACTB	ORPHA:2995
HP:0000234	Abnormality of the head	3756	KCNH1	OMIM:611816
HP:0000234	Abnormality of the head	6469	SHH	OMIM:142945
HP:0000234	Abnormality of the head	284252	KCTD1	OMIM:181270
HP:0000234	Abnormality of the head	113189	CHST14	OMIM:601776
HP:0000234	Abnormality of the head	80816	ASXL3	OMIM:615485
HP:0000234	Abnormality of the head	7403	KDM6A	OMIM:300867
HP:0000234	Abnormality of the head	7403	KDM6A	ORPHA:2322
HP:0000234	Abnormality of the head	8085	KMT2D	ORPHA:2322
HP:0000234	Abnormality of the head	55623	THUMPD1	OMIM:619989
HP:0000234	Abnormality of the head	9653	HS2ST1	OMIM:619194
HP:0000234	Abnormality of the head	50801	KCNK4	OMIM:618381
HP:0000234	Abnormality of the head	253738	EBF3	OMIM:617330
HP:0000234	Abnormality of the head	8367	H4C5	OMIM:619950
HP:0000234	Abnormality of the head	8294	H4C9	OMIM:619951
HP:0000234	Abnormality of the head	94005	PIGS	OMIM:618143
HP:0000234	Abnormality of the head	3572	IL6ST	OMIM:619750
HP:0000234	Abnormality of the head	4683	NBN	OMIM:251260
HP:0000234	Abnormality of the head	4683	NBN	ORPHA:647
HP:0000234	Abnormality of the head	51126	NAA20	OMIM:619717
HP:0000234	Abnormality of the head	6885	MAP3K7	OMIM:617137
HP:0000234	Abnormality of the head	26053	AUTS2	OMIM:615834
HP:0000234	Abnormality of the head	55627	SMPD4	OMIM:618622
HP:0000234	Abnormality of the head	8818	DPM2	ORPHA:329178
HP:0000234	Abnormality of the head	9968	MED12	OMIM:309520
HP:0000234	Abnormality of the head	2131	EXT1	ORPHA:502
HP:0000234	Abnormality of the head	7227	TRPS1	ORPHA:502
HP:0000234	Abnormality of the head	7227	TRPS1	OMIM:190350
HP:0000234	Abnormality of the head	55209	SETD5	ORPHA:404440
HP:0000234	Abnormality of the head	7707	ZNF148	OMIM:617260
HP:0000234	Abnormality of the head	1806	DPYD	ORPHA:1675
HP:0000234	Abnormality of the head	5500	PPP1CB	OMIM:617506
HP:0000234	Abnormality of the head	5500	PPP1CB	ORPHA:2701
HP:0000234	Abnormality of the head	64093	SMOC1	OMIM:206920
HP:0000234	Abnormality of the head	9915	ARNT2	OMIM:615926
HP:0000234	Abnormality of the head	6925	TCF4	OMIM:610954
HP:0000234	Abnormality of the head	4952	OCRL	ORPHA:534
HP:0000234	Abnormality of the head	57231	SNX14	ORPHA:397709
HP:0000234	Abnormality of the head	55343	SLC35C1	ORPHA:99843
HP:0000234	Abnormality of the head	4626	MYH8	OMIM:158300
HP:0000234	Abnormality of the head	4256	MGP	OMIM:245150
HP:0000234	Abnormality of the head	8260	NAA10	OMIM:300855
HP:0000234	Abnormality of the head	3339	HSPG2	OMIM:255800
HP:0000234	Abnormality of the head	22856	CHSY1	OMIM:605282
HP:0000234	Abnormality of the head	64324	NSD1	ORPHA:3447
HP:0000234	Abnormality of the head	8726	EED	ORPHA:3447
HP:0000234	Abnormality of the head	23512	SUZ12	ORPHA:3447
HP:0000234	Abnormality of the head	2146	EZH2	ORPHA:3447
HP:0000234	Abnormality of the head	7546	ZIC2	OMIM:609637
HP:0000234	Abnormality of the head	6792	CDKL5	ORPHA:505652
HP:0000234	Abnormality of the head	1387	CREBBP	OMIM:618332
HP:0000234	Abnormality of the head	6261	RYR1	OMIM:619542
HP:0000234	Abnormality of the head	2033	EP300	OMIM:618333
HP:0000234	Abnormality of the head	3832	KIF11	OMIM:152950
HP:0000234	Abnormality of the head	5087	PBX1	OMIM:617641
HP:0000234	Abnormality of the head	5567	PRKACB	OMIM:619143
HP:0000234	Abnormality of the head	26173	INTS1	OMIM:618571
HP:0000234	Abnormality of the head	867	CBL	OMIM:613563
HP:0000234	Abnormality of the head	8036	SHOC2	ORPHA:2701
HP:0000234	Abnormality of the head	51025	PAM16	OMIM:613320
HP:0000234	Abnormality of the head	4858	NOVA2	OMIM:618859
HP:0000234	Abnormality of the head	7020	TFAP2A	ORPHA:1297
HP:0000234	Abnormality of the head	7319	UBE2A	ORPHA:163956
HP:0000234	Abnormality of the head	9343	EFTUD2	OMIM:610536
HP:0000234	Abnormality of the head	2200	FBN1	OMIM:102370
HP:0000234	Abnormality of the head	6888	TALDO1	OMIM:606003
HP:0000234	Abnormality of the head	5813	PURA	ORPHA:314655
HP:0000234	Abnormality of the head	9949	AMMECR1	OMIM:300990
HP:0000234	Abnormality of the head	90161	HS6ST2	OMIM:301025
HP:0000234	Abnormality of the head	55217	TMLHE	OMIM:300872
HP:0000234	Abnormality of the head	57551	TAOK1	OMIM:619575
HP:0000234	Abnormality of the head	55898	UNC45A	OMIM:619377
HP:0000234	Abnormality of the head	54941	RNF125	OMIM:616260
HP:0000234	Abnormality of the head	2332	FMR1	ORPHA:908
HP:0000234	Abnormality of the head	2332	FMR1	OMIM:300624
HP:0000234	Abnormality of the head	114034	TOE1	OMIM:614969
HP:0000234	Abnormality of the head	5457	POU4F1	ORPHA:314647
HP:0000234	Abnormality of the head	23261	CAMTA1	ORPHA:314647
HP:0000234	Abnormality of the head	23261	CAMTA1	OMIM:614756
HP:0000234	Abnormality of the head	8405	SPOP	OMIM:618829
HP:0000234	Abnormality of the head	285362	SUMF1	OMIM:272200
HP:0000234	Abnormality of the head	221496	LEMD2	OMIM:619322
HP:0000234	Abnormality of the head	4212	MEIS2	OMIM:600987
HP:0000234	Abnormality of the head	92335	STRADA	OMIM:611087
HP:0000234	Abnormality of the head	5144	PDE4D	ORPHA:439822
HP:0000234	Abnormality of the head	4010	LMX1B	ORPHA:495818
HP:0000234	Abnormality of the head	6812	STXBP1	ORPHA:495818
HP:0000234	Abnormality of the head	65082	VPS33A	OMIM:617303
HP:0000234	Abnormality of the head	4953	ODC1	ORPHA:544488
HP:0000234	Abnormality of the head	2783	GNB2	OMIM:619503
HP:0000234	Abnormality of the head	196528	ARID2	OMIM:617808
HP:0000234	Abnormality of the head	5728	PTEN	ORPHA:79076
HP:0000234	Abnormality of the head	657	BMPR1A	ORPHA:79076
HP:0000234	Abnormality of the head	6714	SRC	OMIM:616937
HP:0000234	Abnormality of the head	10584	COLEC10	OMIM:248340
HP:0000234	Abnormality of the head	54101	RIPK4	OMIM:263650
HP:0000234	Abnormality of the head	2121	EVC	ORPHA:952
HP:0000234	Abnormality of the head	132884	EVC2	ORPHA:952
HP:0000234	Abnormality of the head	2137	EXTL3	ORPHA:508533
HP:0000234	Abnormality of the head	1718	DHCR24	OMIM:602398
HP:0000234	Abnormality of the head	1718	DHCR24	ORPHA:35107
HP:0000234	Abnormality of the head	1497	CTNS	OMIM:219800
HP:0000234	Abnormality of the head	11253	MAN1B1	ORPHA:397941
HP:0000234	Abnormality of the head	1139	CHRNA7	ORPHA:199318
HP:0000234	Abnormality of the head	83932	SPRTN	OMIM:616200
HP:0000234	Abnormality of the head	9820	CUL7	ORPHA:2616
HP:0000234	Abnormality of the head	9820	CUL7	OMIM:273750
HP:0000234	Abnormality of the head	23363	OBSL1	ORPHA:2616
HP:0000234	Abnormality of the head	23363	OBSL1	OMIM:612921
HP:0000234	Abnormality of the head	83987	CCDC8	ORPHA:2616
HP:0000234	Abnormality of the head	83987	CCDC8	OMIM:614205
HP:0000234	Abnormality of the head	7360	UGP2	OMIM:618744
HP:0000234	Abnormality of the head	9578	CDC42BPB	OMIM:619841
HP:0000234	Abnormality of the head	2737	GLI3	ORPHA:380
HP:0000234	Abnormality of the head	2737	GLI3	OMIM:175700
HP:0000234	Abnormality of the head	3021	H3-3B	OMIM:619721
HP:0000234	Abnormality of the head	1855	DVL1	OMIM:616331
HP:0000234	Abnormality of the head	1855	DVL1	OMIM:180700
HP:0000234	Abnormality of the head	1855	DVL1	ORPHA:3107
HP:0000234	Abnormality of the head	8942	KYNU	OMIM:617661
HP:0000234	Abnormality of the head	55790	CSGALNACT1	OMIM:618870
HP:0000234	Abnormality of the head	5830	PEX5	OMIM:202370
HP:0000234	Abnormality of the head	2201	FBN2	OMIM:121050
HP:0000234	Abnormality of the head	4286	MITF	OMIM:617306
HP:0000234	Abnormality of the head	120227	CYP2R1	OMIM:600081
HP:0000234	Abnormality of the head	120227	CYP2R1	ORPHA:289157
HP:0000234	Abnormality of the head	57539	WDR35	ORPHA:1515
HP:0000234	Abnormality of the head	57539	WDR35	OMIM:613610
HP:0000234	Abnormality of the head	57539	WDR35	ORPHA:93271
HP:0000234	Abnormality of the head	51098	IFT52	ORPHA:1515
HP:0000234	Abnormality of the head	6660	SOX5	ORPHA:313892
HP:0000234	Abnormality of the head	6660	SOX5	OMIM:616803
HP:0000234	Abnormality of the head	1896	EDA	OMIM:305100
HP:0000234	Abnormality of the head	1896	EDA	ORPHA:181
HP:0000234	Abnormality of the head	54	ACP5	OMIM:607944
HP:0000234	Abnormality of the head	5191	PEX7	OMIM:215100
HP:0000234	Abnormality of the head	2035	EPB41	ORPHA:288
HP:0000234	Abnormality of the head	2995	GYPC	ORPHA:288
HP:0000234	Abnormality of the head	6710	SPTB	ORPHA:288
HP:0000234	Abnormality of the head	6708	SPTA1	ORPHA:288
HP:0000234	Abnormality of the head	10484	SEC23A	OMIM:607812
HP:0000234	Abnormality of the head	10484	SEC23A	ORPHA:50814
HP:0000234	Abnormality of the head	1105	CHD1	OMIM:617682
HP:0000234	Abnormality of the head	1105	CHD1	ORPHA:529965
HP:0000234	Abnormality of the head	10815	CPLX1	ORPHA:280
HP:0000234	Abnormality of the head	54872	PIGG	ORPHA:280
HP:0000234	Abnormality of the head	7469	NELFA	ORPHA:280
HP:0000234	Abnormality of the head	1487	CTBP1	ORPHA:280
HP:0000234	Abnormality of the head	1487	CTBP1	OMIM:617915
HP:0000234	Abnormality of the head	3954	LETM1	ORPHA:280
HP:0000234	Abnormality of the head	7468	NSD2	ORPHA:280
HP:0000234	Abnormality of the head	1656	DDX6	OMIM:618653
HP:0000234	Abnormality of the head	1594	CYP27B1	OMIM:264700
HP:0000234	Abnormality of the head	1594	CYP27B1	ORPHA:289157
HP:0000234	Abnormality of the head	1301	COL11A1	OMIM:228520
HP:0000234	Abnormality of the head	1301	COL11A1	ORPHA:440354
HP:0000234	Abnormality of the head	1301	COL11A1	ORPHA:560
HP:0000234	Abnormality of the head	6602	SMARCD1	OMIM:618779
HP:0000234	Abnormality of the head	26038	CHD5	OMIM:619873
HP:0000234	Abnormality of the head	3043	HBB	ORPHA:231214
HP:0000234	Abnormality of the head	3043	HBB	ORPHA:231226
HP:0000234	Abnormality of the head	6905	TBCE	OMIM:241410
HP:0000234	Abnormality of the head	142680	SLC34A3	OMIM:241530
HP:0000234	Abnormality of the head	57167	SALL4	OMIM:147750
HP:0000234	Abnormality of the head	5048	PAFAH1B1	ORPHA:217385
HP:0000234	Abnormality of the head	7531	YWHAE	ORPHA:217385
HP:0000234	Abnormality of the head	3481	IGF2	OMIM:616489
HP:0000234	Abnormality of the head	3481	IGF2	OMIM:180860
HP:0000234	Abnormality of the head	3481	IGF2	ORPHA:397590
HP:0000234	Abnormality of the head	92609	TIMM50	OMIM:617698
HP:0000234	Abnormality of the head	3098	HK1	OMIM:618547
HP:0000234	Abnormality of the head	5590	PRKCZ	ORPHA:1606
HP:0000234	Abnormality of the head	2563	GABRD	ORPHA:1606
HP:0000234	Abnormality of the head	23013	SPEN	ORPHA:1606
HP:0000234	Abnormality of the head	23013	SPEN	OMIM:619312
HP:0000234	Abnormality of the head	8510	MMP23B	ORPHA:1606
HP:0000234	Abnormality of the head	7798	LUZP1	ORPHA:1606
HP:0000234	Abnormality of the head	6497	SKI	ORPHA:1606
HP:0000234	Abnormality of the head	6497	SKI	ORPHA:2462
HP:0000234	Abnormality of the head	6497	SKI	OMIM:182212
HP:0000234	Abnormality of the head	10630	PDPN	ORPHA:1606
HP:0000234	Abnormality of the head	10277	UBE4B	ORPHA:1606
HP:0000234	Abnormality of the head	8514	KCNAB2	ORPHA:1606
HP:0000234	Abnormality of the head	473	RERE	ORPHA:1606
HP:0000234	Abnormality of the head	473	RERE	ORPHA:494344
HP:0000234	Abnormality of the head	473	RERE	OMIM:616975
HP:0000234	Abnormality of the head	63976	PRDM16	ORPHA:1606
HP:0000234	Abnormality of the head	54897	CASZ1	ORPHA:1606
HP:0000234	Abnormality of the head	5727	PTCH1	OMIM:610828
HP:0000234	Abnormality of the head	5727	PTCH1	ORPHA:377
HP:0000234	Abnormality of the head	5727	PTCH1	OMIM:109400
HP:0000234	Abnormality of the head	79796	ALG9	ORPHA:79328
HP:0000234	Abnormality of the head	79796	ALG9	OMIM:608776
HP:0000234	Abnormality of the head	8314	BAP1	OMIM:619762
HP:0000234	Abnormality of the head	83479	DDX59	ORPHA:2919
HP:0000234	Abnormality of the head	83479	DDX59	OMIM:174300
HP:0000234	Abnormality of the head	6942	TCF20	OMIM:618430
HP:0000234	Abnormality of the head	2271	FH	OMIM:606812
HP:0000234	Abnormality of the head	4488	MSX2	OMIM:604757
HP:0000234	Abnormality of the head	8643	PTCH2	ORPHA:377
HP:0000234	Abnormality of the head	23556	PIGN	OMIM:614080
HP:0000234	Abnormality of the head	23007	PLCH1	OMIM:619895
HP:0000234	Abnormality of the head	249	ALPL	OMIM:241510
HP:0000234	Abnormality of the head	79989	IFT56	OMIM:619534
HP:0000234	Abnormality of the head	84168	ANTXR1	OMIM:230740
HP:0000234	Abnormality of the head	84168	ANTXR1	ORPHA:2067
HP:0000234	Abnormality of the head	7994	KAT6A	OMIM:616268
HP:0000234	Abnormality of the head	2720	GLB1	OMIM:230500
HP:0000234	Abnormality of the head	2720	GLB1	ORPHA:79255
HP:0000234	Abnormality of the head	3930	LBR	OMIM:169400
HP:0000234	Abnormality of the head	3930	LBR	OMIM:618019
HP:0000234	Abnormality of the head	1107	CHD3	OMIM:618205
HP:0000234	Abnormality of the head	2317	FLNB	OMIM:272460
HP:0000234	Abnormality of the head	2317	FLNB	OMIM:108721
HP:0000234	Abnormality of the head	2317	FLNB	OMIM:108720
HP:0000234	Abnormality of the head	2317	FLNB	OMIM:150250
HP:0000234	Abnormality of the head	1749	DLX5	OMIM:220600
HP:0000234	Abnormality of the head	9742	IFT140	OMIM:266920
HP:0000234	Abnormality of the head	1523	CUX1	OMIM:618330
HP:0000234	Abnormality of the head	5587	PRKD1	OMIM:617364
HP:0000234	Abnormality of the head	5426	POLE	OMIM:618336
HP:0000234	Abnormality of the head	5426	POLE	ORPHA:85173
HP:0000234	Abnormality of the head	4921	DDR2	OMIM:271665
HP:0000234	Abnormality of the head	8925	HERC1	OMIM:617011
HP:0000234	Abnormality of the head	54892	NCAPG2	OMIM:618460
HP:0000234	Abnormality of the head	23314	SATB2	ORPHA:251028
HP:0000234	Abnormality of the head	23314	SATB2	OMIM:612313
HP:0000234	Abnormality of the head	1277	COL1A1	OMIM:259420
HP:0000234	Abnormality of the head	1278	COL1A2	OMIM:259420
HP:0000234	Abnormality of the head	5515	PPP2CA	OMIM:618354
HP:0000234	Abnormality of the head	29998	BICRA	OMIM:619325
HP:0000234	Abnormality of the head	2710	GK	OMIM:307030
HP:0000234	Abnormality of the head	9126	SMC3	OMIM:610759
HP:0000234	Abnormality of the head	4784	NFIX	OMIM:602535
HP:0000234	Abnormality of the head	4784	NFIX	ORPHA:420179
HP:0000234	Abnormality of the head	3039	HBA1	ORPHA:98791
HP:0000234	Abnormality of the head	3040	HBA2	ORPHA:98791
HP:0000234	Abnormality of the head	4998	ORC1	OMIM:224690
HP:0000234	Abnormality of the head	54496	PRMT7	OMIM:617157
HP:0000234	Abnormality of the head	10082	GPC6	OMIM:258315
HP:0000234	Abnormality of the head	10082	GPC6	ORPHA:93329
HP:0000234	Abnormality of the head	5831	PYCR1	OMIM:612940
HP:0000234	Abnormality of the head	116442	RAB39B	OMIM:311510
HP:0000234	Abnormality of the head	116442	RAB39B	ORPHA:2379
HP:0000234	Abnormality of the head	7703	PCGF2	OMIM:618371
HP:0000234	Abnormality of the head	23258	DENND5A	OMIM:617281
HP:0000234	Abnormality of the head	9496	TBX4	ORPHA:261279
HP:0000234	Abnormality of the head	8091	HMGA2	ORPHA:94063
HP:0000234	Abnormality of the head	8091	HMGA2	ORPHA:397590
HP:0000234	Abnormality of the head	23592	LEMD3	ORPHA:94063
HP:0000234	Abnormality of the head	10013	HDAC6	OMIM:300863
HP:0000234	Abnormality of the head	10013	HDAC6	ORPHA:163966
HP:0000234	Abnormality of the head	633	BGN	OMIM:300989
HP:0000234	Abnormality of the head	164	AP1G1	OMIM:619467
HP:0000234	Abnormality of the head	3977	LIFR	OMIM:601559
HP:0000234	Abnormality of the head	26040	SETBP1	OMIM:616078
HP:0000234	Abnormality of the head	26040	SETBP1	ORPHA:798
HP:0000234	Abnormality of the head	2475	MTOR	ORPHA:457485
HP:0000234	Abnormality of the head	2475	MTOR	OMIM:616638
HP:0000234	Abnormality of the head	4990	SIX6	OMIM:206900
HP:0000234	Abnormality of the head	6657	SOX2	OMIM:206900
HP:0000234	Abnormality of the head	9321	TRIP11	ORPHA:166272
HP:0000234	Abnormality of the head	9321	TRIP11	ORPHA:93299
HP:0000234	Abnormality of the head	4882	NPR2	OMIM:602875
HP:0000234	Abnormality of the head	4882	NPR2	ORPHA:40
HP:0000234	Abnormality of the head	57498	KIDINS220	OMIM:617296
HP:0000234	Abnormality of the head	10526	IPO8	OMIM:619472
HP:0000234	Abnormality of the head	10283	CWC27	OMIM:250410
HP:0000234	Abnormality of the head	10283	CWC27	ORPHA:166035
HP:0000234	Abnormality of the head	4796	TONSL	OMIM:271510
HP:0000234	Abnormality of the head	4796	TONSL	ORPHA:93357
HP:0000234	Abnormality of the head	2887	GRB10	ORPHA:96182
HP:0000234	Abnormality of the head	84172	POLR1B	ORPHA:861
HP:0000234	Abnormality of the head	9533	POLR1C	ORPHA:861
HP:0000234	Abnormality of the head	51082	POLR1D	ORPHA:861
HP:0000234	Abnormality of the head	6949	TCOF1	ORPHA:861
HP:0000234	Abnormality of the head	23405	DICER1	OMIM:618272
HP:0000234	Abnormality of the head	55210	ATAD3A	OMIM:617183
HP:0000234	Abnormality of the head	1298	COL9A2	OMIM:600204
HP:0000234	Abnormality of the head	3636	INPPL1	OMIM:258480
HP:0000234	Abnormality of the head	3636	INPPL1	ORPHA:2746
HP:0000234	Abnormality of the head	4841	NONO	OMIM:300967
HP:0000234	Abnormality of the head	4841	NONO	ORPHA:466791
HP:0000234	Abnormality of the head	8567	MADD	OMIM:619005
HP:0000234	Abnormality of the head	5058	PAK1	OMIM:618158
HP:0000234	Abnormality of the head	10651	MTX2	OMIM:619127
HP:0000234	Abnormality of the head	25839	COG4	ORPHA:85172
HP:0000234	Abnormality of the head	1028	CDKN1C	ORPHA:85173
HP:0000234	Abnormality of the head	1028	CDKN1C	ORPHA:397590
HP:0000234	Abnormality of the head	2799	GNS	OMIM:252940
HP:0000234	Abnormality of the head	55599	RNPC3	OMIM:618160
HP:0000234	Abnormality of the head	23387	SIK3	OMIM:618162
HP:0000234	Abnormality of the head	6904	TBCD	OMIM:617193
HP:0000234	Abnormality of the head	5528	PPP2R5D	ORPHA:457279
HP:0000234	Abnormality of the head	1984	EIF5A	OMIM:619376
HP:0000234	Abnormality of the head	89970	RSPRY1	ORPHA:457395
HP:0000234	Abnormality of the head	89970	RSPRY1	OMIM:616723
HP:0000234	Abnormality of the head	9487	PIGL	OMIM:280000
HP:0000234	Abnormality of the head	5557	PRIM1	OMIM:620005
HP:0000234	Abnormality of the head	3295	HSD17B4	OMIM:261515
HP:0000234	Abnormality of the head	83737	ITCH	ORPHA:228426
HP:0000234	Abnormality of the head	83737	ITCH	OMIM:613385
HP:0000234	Abnormality of the head	7474	WNT5A	OMIM:180700
HP:0000234	Abnormality of the head	7474	WNT5A	ORPHA:3107
HP:0000234	Abnormality of the head	9897	WASHC5	ORPHA:7
HP:0000234	Abnormality of the head	28952	CCDC22	ORPHA:7
HP:0000234	Abnormality of the head	6913	TBX15	OMIM:260660
HP:0000234	Abnormality of the head	6913	TBX15	ORPHA:93333
HP:0000234	Abnormality of the head	55181	SMG8	OMIM:619268
HP:0000234	Abnormality of the head	27161	AGO2	OMIM:619149
HP:0000234	Abnormality of the head	284361	EMC10	OMIM:619264
HP:0000234	Abnormality of the head	7421	VDR	ORPHA:93160
HP:0000234	Abnormality of the head	7421	VDR	OMIM:277440
HP:0000234	Abnormality of the head	55503	TRPV6	OMIM:618188
HP:0000234	Abnormality of the head	775	CACNA1C	OMIM:620029
HP:0000234	Abnormality of the head	4983	OPHN1	OMIM:300486
HP:0000234	Abnormality of the head	4774	NFIA	ORPHA:401986
HP:0000234	Abnormality of the head	55112	DYNC2I1	ORPHA:93271
HP:0000234	Abnormality of the head	57560	IFT80	ORPHA:93271
HP:0000234	Abnormality of the head	79659	DYNC2H1	ORPHA:93271
HP:0000234	Abnormality of the head	89891	DYNC2I2	ORPHA:93271
HP:0000234	Abnormality of the head	4281	MID1	OMIM:300000
HP:0000234	Abnormality of the head	2314	FLII	ORPHA:819
HP:0000234	Abnormality of the head	23096	IQSEC2	ORPHA:819
HP:0000234	Abnormality of the head	10743	RAI1	ORPHA:819
HP:0000234	Abnormality of the head	10522	DEAF1	ORPHA:819
HP:0000234	Abnormality of the head	10522	DEAF1	OMIM:615828
HP:0000234	Abnormality of the head	6662	SOX9	OMIM:114290
HP:0000234	Abnormality of the head	5744	PTHLH	ORPHA:93387
HP:0000234	Abnormality of the head	3239	HOXD13	ORPHA:93387
HP:0000234	Abnormality of the head	4758	NEU1	ORPHA:812
HP:0000234	Abnormality of the head	150468	CKAP2L	ORPHA:3255
HP:0000234	Abnormality of the head	4038	LRP4	ORPHA:3258
HP:0000234	Abnormality of the head	4038	LRP4	OMIM:614305
HP:0000234	Abnormality of the head	324	APC	ORPHA:3258
HP:0000234	Abnormality of the head	51360	MBTPS2	ORPHA:2273
HP:0000234	Abnormality of the head	57492	ARID1B	OMIM:135900
HP:0000234	Abnormality of the head	672	BRCA1	ORPHA:84
HP:0000234	Abnormality of the head	10459	MAD2L2	ORPHA:84
HP:0000234	Abnormality of the head	7516	XRCC2	ORPHA:84
HP:0000234	Abnormality of the head	29089	UBE2T	ORPHA:84
HP:0000234	Abnormality of the head	675	BRCA2	ORPHA:84
HP:0000234	Abnormality of the head	55120	FANCL	ORPHA:84
HP:0000234	Abnormality of the head	2177	FANCD2	ORPHA:84
HP:0000234	Abnormality of the head	2175	FANCA	ORPHA:84
HP:0000234	Abnormality of the head	2187	FANCB	ORPHA:84
HP:0000234	Abnormality of the head	2176	FANCC	ORPHA:84
HP:0000234	Abnormality of the head	2178	FANCE	ORPHA:84
HP:0000234	Abnormality of the head	2188	FANCF	ORPHA:84
HP:0000234	Abnormality of the head	2189	FANCG	ORPHA:84
HP:0000234	Abnormality of the head	5888	RAD51	ORPHA:84
HP:0000234	Abnormality of the head	5889	RAD51C	ORPHA:84
HP:0000234	Abnormality of the head	55159	RFWD3	ORPHA:84
HP:0000234	Abnormality of the head	83990	BRIP1	ORPHA:84
HP:0000234	Abnormality of the head	57697	FANCM	ORPHA:84
HP:0000234	Abnormality of the head	79728	PALB2	ORPHA:84
HP:0000234	Abnormality of the head	84464	SLX4	ORPHA:84
HP:0000234	Abnormality of the head	2072	ERCC4	ORPHA:84
HP:0000234	Abnormality of the head	55215	FANCI	ORPHA:84
HP:0000234	Abnormality of the head	83550	GPR101	ORPHA:963
HP:0000234	Abnormality of the head	9049	AIP	ORPHA:963
HP:0000234	Abnormality of the head	9049	AIP	ORPHA:99725
HP:0000234	Abnormality of the head	9377	COX5A	OMIM:619064
HP:0000234	Abnormality of the head	9839	ZEB2	ORPHA:261552
HP:0000234	Abnormality of the head	1327	COX4I1	OMIM:619060
HP:0000234	Abnormality of the head	860	RUNX2	OMIM:119600
HP:0000234	Abnormality of the head	860	RUNX2	ORPHA:1452
HP:0000234	Abnormality of the head	9184	BUB3	ORPHA:1052
HP:0000234	Abnormality of the head	699	BUB1	ORPHA:1052
HP:0000234	Abnormality of the head	9702	CEP57	ORPHA:1052
HP:0000234	Abnormality of the head	9702	CEP57	OMIM:614114
HP:0000234	Abnormality of the head	9319	TRIP13	ORPHA:1052
HP:0000234	Abnormality of the head	701	BUB1B	ORPHA:1052
HP:0000234	Abnormality of the head	10682	EBP	ORPHA:35173
HP:0000234	Abnormality of the head	10682	EBP	OMIM:302960
HP:0000234	Abnormality of the head	4591	TRIM37	OMIM:253250
HP:0000234	Abnormality of the head	1954	MEGF8	OMIM:614976
HP:0000234	Abnormality of the head	4338	MOCS2	OMIM:252160
HP:0000234	Abnormality of the head	25942	SIN3A	OMIM:613406
HP:0000234	Abnormality of the head	6197	RPS6KA3	ORPHA:276630
HP:0000234	Abnormality of the head	6197	RPS6KA3	ORPHA:192
HP:0000234	Abnormality of the head	1857	DVL3	ORPHA:3107
HP:0000234	Abnormality of the head	1857	DVL3	OMIM:616894
HP:0000234	Abnormality of the head	2535	FZD2	ORPHA:3107
HP:0000234	Abnormality of the head	2535	FZD2	OMIM:164745
HP:0000234	Abnormality of the head	2535	FZD2	ORPHA:93328
HP:0000234	Abnormality of the head	285175	UNC80	OMIM:616801
HP:0000234	Abnormality of the head	285175	UNC80	ORPHA:371364
HP:0000234	Abnormality of the head	11128	POLR3A	OMIM:264090
HP:0000234	Abnormality of the head	11128	POLR3A	ORPHA:3455
HP:0000234	Abnormality of the head	57459	GATAD2B	ORPHA:363686
HP:0000234	Abnormality of the head	728294	D2HGDH	OMIM:600721
HP:0000234	Abnormality of the head	6774	STAT3	OMIM:147060
HP:0000234	Abnormality of the head	5159	PDGFRB	OMIM:601812
HP:0000234	Abnormality of the head	5324	PLAG1	ORPHA:397590
HP:0000234	Abnormality of the head	182	JAG1	OMIM:118450
HP:0000234	Abnormality of the head	5832	ALDH18A1	OMIM:219150
HP:0000234	Abnormality of the head	4221	MEN1	ORPHA:99725
HP:0000234	Abnormality of the head	471	ATIC	OMIM:608688
HP:0000234	Abnormality of the head	114548	NLRP3	OMIM:607115
HP:0000234	Abnormality of the head	114548	NLRP3	ORPHA:1451
HP:0000234	Abnormality of the head	5295	PIK3R1	OMIM:269880
HP:0000234	Abnormality of the head	254065	BRWD3	OMIM:300659
HP:0000234	Abnormality of the head	9652	SKIC3	OMIM:222470
HP:0000234	Abnormality of the head	10661	KLF1	OMIM:613673
HP:0000234	Abnormality of the head	729920	CRPPA	OMIM:614643
HP:0000234	Abnormality of the head	1302	COL11A2	OMIM:614524
HP:0000234	Abnormality of the head	4313	MMP2	OMIM:259600
HP:0000234	Abnormality of the head	91252	SLC39A13	OMIM:612350
HP:0000234	Abnormality of the head	2702	GJA5	OMIM:612474
HP:0000234	Abnormality of the head	2703	GJA8	OMIM:612474
HP:0000234	Abnormality of the head	27152	INTU	OMIM:617925
HP:0000234	Abnormality of the head	51053	GMNN	OMIM:616835
HP:0000234	Abnormality of the head	132	ADK	OMIM:614300
HP:0000234	Abnormality of the head	9759	HDAC4	ORPHA:1001
HP:0000234	Abnormality of the head	11133	KPTN	OMIM:615637
HP:0000234	Abnormality of the head	11133	KPTN	ORPHA:397612
HP:0000234	Abnormality of the head	23028	KDM1A	OMIM:616728
HP:0000234	Abnormality of the head	79650	USB1	OMIM:604173
HP:0000234	Abnormality of the head	5160	PDHA1	OMIM:312170
HP:0000234	Abnormality of the head	4792	NFKBIA	OMIM:612132
HP:0000234	Abnormality of the head	2902	GRIN1	OMIM:617820
HP:0000234	Abnormality of the head	10735	STAG2	OMIM:301022
HP:0000234	Abnormality of the head	29940	DSE	OMIM:615539
HP:0000234	Abnormality of the head	8517	IKBKG	OMIM:300291
HP:0000234	Abnormality of the head	1000	CDH2	OMIM:618929
HP:0000234	Abnormality of the head	176	ACAN	OMIM:165800
HP:0000234	Abnormality of the head	3758	KCNJ1	OMIM:241200
HP:0000234	Abnormality of the head	54551	MAGEL2	OMIM:615547
HP:0000234	Abnormality of the head	9419	CRIPT	OMIM:615789
HP:0000234	Abnormality of the head	139285	AMER1	ORPHA:2780
HP:0000234	Abnormality of the head	139285	AMER1	OMIM:300373
HP:0000234	Abnormality of the head	55644	OSGEP	OMIM:617729
HP:0000234	Abnormality of the head	2313	FLI1	ORPHA:2308
HP:0000234	Abnormality of the head	2517	FUCA1	OMIM:230000
HP:0000234	Abnormality of the head	7204	TRIO	OMIM:618825
HP:0000234	Abnormality of the head	4337	MOCS1	OMIM:252150
HP:0000234	Abnormality of the head	51520	LARS1	OMIM:615438
HP:0000234	Abnormality of the head	4329	ALDH6A1	OMIM:614105
HP:0000234	Abnormality of the head	7040	TGFB1	ORPHA:1328
HP:0000234	Abnormality of the head	5293	PIK3CD	ORPHA:221139
HP:0000234	Abnormality of the head	90417	KNSTRN	ORPHA:221139
HP:0000234	Abnormality of the head	23545	ATP6V0A2	OMIM:219200
HP:0000234	Abnormality of the head	128178	EDARADD	OMIM:224900
HP:0000234	Abnormality of the head	10913	EDAR	OMIM:224900
HP:0000234	Abnormality of the head	60401	EDA2R	ORPHA:181
HP:0000234	Abnormality of the head	6519	SLC3A1	ORPHA:163690
HP:0000234	Abnormality of the head	6519	SLC3A1	ORPHA:163693
HP:0000234	Abnormality of the head	9581	PREPL	ORPHA:163690
HP:0000234	Abnormality of the head	9581	PREPL	ORPHA:163693
HP:0000234	Abnormality of the head	84628	NTNG2	OMIM:618718
HP:0000234	Abnormality of the head	113246	C12orf57	OMIM:218340
HP:0000234	Abnormality of the head	5495	PPM1B	ORPHA:163693
HP:0000234	Abnormality of the head	79823	CAMKMT	ORPHA:163693
HP:0000234	Abnormality of the head	51	ACOX1	OMIM:264470
HP:0000234	Abnormality of the head	5296	PIK3R2	OMIM:603387
HP:0000234	Abnormality of the head	126792	B3GALT6	ORPHA:536467
HP:0000234	Abnormality of the head	126792	B3GALT6	OMIM:615349
HP:0000234	Abnormality of the head	10020	GNE	OMIM:269921
HP:0000234	Abnormality of the head	8777	MPDZ	OMIM:615219
HP:0000234	Abnormality of the head	5449	POU1F1	OMIM:613038
HP:0000234	Abnormality of the head	23389	MED13L	OMIM:616789
HP:0000234	Abnormality of the head	9757	KMT2B	OMIM:619934
HP:0000234	Abnormality of the head	9469	CHST3	OMIM:245600
HP:0000234	Abnormality of the head	26229	B3GAT3	OMIM:245600
HP:0000234	Abnormality of the head	1280	COL2A1	OMIM:200610
HP:0000234	Abnormality of the head	2036	EPB41L1	OMIM:614257
HP:0000234	Abnormality of the head	10736	SIX2	ORPHA:488437
HP:0000234	Abnormality of the head	8398	PLA2G6	OMIM:256600
HP:0000234	Abnormality of the head	26281	FGF20	OMIM:615721
HP:0000234	Abnormality of the head	183	AGT	OMIM:267430
HP:0000234	Abnormality of the head	5972	REN	OMIM:267430
HP:0000234	Abnormality of the head	185	AGTR1	OMIM:267430
HP:0000234	Abnormality of the head	1636	ACE	OMIM:267430
HP:0000234	Abnormality of the head	7317	UBA1	ORPHA:1145
HP:0000234	Abnormality of the head	2674	GFRA1	OMIM:619887
HP:0000234	Abnormality of the head	5076	PAX2	ORPHA:97362
HP:0000234	Abnormality of the head	8516	ITGA8	OMIM:191830
HP:0000234	Abnormality of the head	55165	CEP55	OMIM:236500
HP:0000234	Abnormality of the head	27031	NPHP3	OMIM:208540
HP:0000234	Abnormality of the head	5314	PKHD1	OMIM:263200
HP:0000234	Abnormality of the head	25	ABL1	OMIM:617602
HP:0000234	Abnormality of the head	1289	COL5A1	OMIM:130000
HP:0000234	Abnormality of the head	55656	INTS8	OMIM:618572
HP:0000234	Abnormality of the head	84340	GFM2	OMIM:618397
HP:0000234	Abnormality of the head	84340	GFM2	ORPHA:565624
HP:0000234	Abnormality of the head	3908	LAMA2	ORPHA:258
HP:0000234	Abnormality of the head	29967	LRP12	OMIM:164310
HP:0000234	Abnormality of the head	9570	GOSR2	OMIM:620166
HP:0000234	Abnormality of the head	57731	SPTBN4	OMIM:617519
HP:0000234	Abnormality of the head	4620	MYH2	OMIM:605637
HP:0000234	Abnormality of the head	27072	VPS41	OMIM:619389
HP:0000234	Abnormality of the head	128989	TANGO2	OMIM:616878
HP:0000234	Abnormality of the head	6443	SGCB	ORPHA:119
HP:0000234	Abnormality of the head	3769	KCNJ13	ORPHA:65
HP:0000234	Abnormality of the head	343035	RD3	ORPHA:65
HP:0000234	Abnormality of the head	145226	RDH12	ORPHA:65
HP:0000234	Abnormality of the head	1406	CRX	ORPHA:65
HP:0000234	Abnormality of the head	10383	TUBB4B	ORPHA:65
HP:0000234	Abnormality of the head	85015	USP45	ORPHA:65
HP:0000234	Abnormality of the head	6121	RPE65	ORPHA:65
HP:0000234	Abnormality of the head	23418	CRB1	ORPHA:65
HP:0000234	Abnormality of the head	5130	PCYT1A	ORPHA:65
HP:0000234	Abnormality of the head	9657	IQCB1	ORPHA:65
HP:0000234	Abnormality of the head	392255	GDF6	ORPHA:65
HP:0000234	Abnormality of the head	23746	AIPL1	ORPHA:65
HP:0000234	Abnormality of the head	3000	GUCY2D	ORPHA:65
HP:0000234	Abnormality of the head	9227	LRAT	ORPHA:65
HP:0000234	Abnormality of the head	55812	SPATA7	ORPHA:65
HP:0000234	Abnormality of the head	7287	TULP1	ORPHA:65
HP:0000234	Abnormality of the head	167691	LCA5	ORPHA:65
HP:0000234	Abnormality of the head	3614	IMPDH1	ORPHA:65
HP:0000234	Abnormality of the head	160418	TMTC3	OMIM:617255
HP:0000234	Abnormality of the head	29925	GMPPB	ORPHA:370959
HP:0000234	Abnormality of the head	875	CBS	ORPHA:394
HP:0000234	Abnormality of the head	54084	TSPEAR	OMIM:618180
HP:0000234	Abnormality of the head	81607	NECTIN4	OMIM:613573
HP:0000234	Abnormality of the head	4047	LSS	ORPHA:2850
HP:0000234	Abnormality of the head	4047	LSS	ORPHA:55654
HP:0000234	Abnormality of the head	197	AHSG	ORPHA:2850
HP:0000234	Abnormality of the head	3694	ITGB6	ORPHA:2850
HP:0000234	Abnormality of the head	26128	KIFBP	ORPHA:66629
HP:0000234	Abnormality of the head	9076	CLDN1	ORPHA:59303
HP:0000234	Abnormality of the head	80326	WNT10A	OMIM:257980
HP:0000234	Abnormality of the head	80326	WNT10A	OMIM:150400
HP:0000234	Abnormality of the head	79669	C3orf52	OMIM:620177
HP:0000234	Abnormality of the head	200879	LIPH	OMIM:604379
HP:0000234	Abnormality of the head	200879	LIPH	ORPHA:55654
HP:0000234	Abnormality of the head	147183	KRT25	OMIM:616760
HP:0000234	Abnormality of the head	3122	HLA-DRA	ORPHA:505
HP:0000234	Abnormality of the head	3675	ITGA3	OMIM:614748
HP:0000234	Abnormality of the head	147495	APCDD1	ORPHA:55654
HP:0000234	Abnormality of the head	10161	LPAR6	ORPHA:55654
HP:0000234	Abnormality of the head	10161	LPAR6	OMIM:278150
HP:0000234	Abnormality of the head	25959	KANK2	OMIM:616099
HP:0000234	Abnormality of the head	79971	WLS	OMIM:619648
HP:0000234	Abnormality of the head	8815	BANF1	OMIM:614008
HP:0000234	Abnormality of the head	65057	ACD	ORPHA:3322
HP:0000234	Abnormality of the head	120766137	HRURF	OMIM:146550
HP:0000234	Abnormality of the head	64858	DCLRE1B	OMIM:620133
HP:0000234	Abnormality of the head	5317	PKP1	OMIM:604536
HP:0000234	Abnormality of the head	8313	AXIN2	OMIM:608615
HP:0000234	Abnormality of the head	1832	DSP	ORPHA:158687
HP:0000234	Abnormality of the head	3728	JUP	ORPHA:158687
HP:0000234	Abnormality of the head	64682	ANAPC1	OMIM:618625
HP:0000234	Abnormality of the head	3891	KRT85	OMIM:602032
HP:0000234	Abnormality of the head	55806	HR	ORPHA:701
HP:0000234	Abnormality of the head	55806	HR	OMIM:203655
HP:0000234	Abnormality of the head	10804	GJB6	ORPHA:189
HP:0000234	Abnormality of the head	4000	LMNA	ORPHA:740
HP:0000234	Abnormality of the head	4000	LMNA	ORPHA:363618
HP:0000234	Abnormality of the head	10269	ZMPSTE24	ORPHA:740
HP:0000234	Abnormality of the head	84946	LTV1	OMIM:620199
HP:0000234	Abnormality of the head	5297	PI4KA	ORPHA:436252
HP:0000234	Abnormality of the head	57217	TTC7A	ORPHA:436252
HP:0000234	Abnormality of the head	1001	CDH3	ORPHA:1897
HP:0000234	Abnormality of the head	5077	PAX3	ORPHA:894
HP:0000234	Abnormality of the head	5077	PAX3	OMIM:193500
HP:0000234	Abnormality of the head	1910	EDNRB	OMIM:600501
HP:0000234	Abnormality of the head	1910	EDNRB	OMIM:277580
HP:0000234	Abnormality of the head	1910	EDNRB	ORPHA:897
HP:0000234	Abnormality of the head	1908	EDN3	OMIM:613265
HP:0000234	Abnormality of the head	1908	EDN3	ORPHA:897
HP:0000234	Abnormality of the head	79083	MLPH	OMIM:609227
HP:0000234	Abnormality of the head	4157	MC1R	ORPHA:79432
HP:0000234	Abnormality of the head	4948	OCA2	ORPHA:79432
HP:0000234	Abnormality of the head	7306	TYRP1	ORPHA:79433
HP:0000234	Abnormality of the head	6591	SNAI2	ORPHA:2884
HP:0000234	Abnormality of the head	3815	KIT	ORPHA:2884
HP:0000234	Abnormality of the head	4644	MYO5A	OMIM:214450
HP:0000234	Abnormality of the head	27019	DNAI1	OMIM:244400
HP:0000234	Abnormality of the head	27019	DNAI1	ORPHA:244
HP:0000234	Abnormality of the head	374407	DNAJB13	OMIM:617091
HP:0000234	Abnormality of the head	374407	DNAJB13	ORPHA:244
HP:0000234	Abnormality of the head	83538	ODAD4	OMIM:617092
HP:0000234	Abnormality of the head	83538	ODAD4	ORPHA:244
HP:0000234	Abnormality of the head	1770	DNAH9	OMIM:618300
HP:0000234	Abnormality of the head	1770	DNAH9	ORPHA:244
HP:0000234	Abnormality of the head	83861	RSPH3	OMIM:616481
HP:0000234	Abnormality of the head	83861	RSPH3	ORPHA:244
HP:0000234	Abnormality of the head	55130	ODAD2	OMIM:615451
HP:0000234	Abnormality of the head	55130	ODAD2	ORPHA:244
HP:0000234	Abnormality of the head	25981	DNAH1	OMIM:617577
HP:0000234	Abnormality of the head	25981	DNAH1	ORPHA:244
HP:0000234	Abnormality of the head	2622	GAS8	OMIM:616726
HP:0000234	Abnormality of the head	2622	GAS8	ORPHA:244
HP:0000234	Abnormality of the head	64446	DNAI2	OMIM:612444
HP:0000234	Abnormality of the head	64446	DNAI2	ORPHA:244
HP:0000234	Abnormality of the head	54970	TTC12	OMIM:618801
HP:0000234	Abnormality of the head	54970	TTC12	ORPHA:244
HP:0000234	Abnormality of the head	54440	SASH3	OMIM:301082
HP:0000234	Abnormality of the head	345895	RSPH4A	OMIM:612649
HP:0000234	Abnormality of the head	345895	RSPH4A	ORPHA:244
HP:0000234	Abnormality of the head	79087	ALG12	ORPHA:79324
HP:0000234	Abnormality of the head	29887	SNX10	ORPHA:667
HP:0000234	Abnormality of the head	115948	ODAD3	ORPHA:244
HP:0000234	Abnormality of the head	54768	HYDIN	ORPHA:244
HP:0000234	Abnormality of the head	54768	HYDIN	OMIM:608647
HP:0000234	Abnormality of the head	352909	DNAAF3	ORPHA:244
HP:0000234	Abnormality of the head	27148	STK36	ORPHA:244
HP:0000234	Abnormality of the head	51314	NME8	ORPHA:244
HP:0000234	Abnormality of the head	92749	DRC1	ORPHA:244
HP:0000234	Abnormality of the head	152110	NEK10	ORPHA:244
HP:0000234	Abnormality of the head	2302	FOXJ1	ORPHA:244
HP:0000234	Abnormality of the head	2302	FOXJ1	OMIM:618699
HP:0000234	Abnormality of the head	221421	RSPH9	ORPHA:244
HP:0000234	Abnormality of the head	221421	RSPH9	OMIM:612650
HP:0000234	Abnormality of the head	85478	CCDC65	ORPHA:244
HP:0000234	Abnormality of the head	55036	CCDC40	ORPHA:244
HP:0000234	Abnormality of the head	51364	ZMYND10	ORPHA:244
HP:0000234	Abnormality of the head	6674	SPAG1	ORPHA:244
HP:0000234	Abnormality of the head	83544	DNAL1	ORPHA:244
HP:0000234	Abnormality of the head	83544	DNAL1	OMIM:614017
HP:0000234	Abnormality of the head	89765	RSPH1	ORPHA:244
HP:0000234	Abnormality of the head	89765	RSPH1	OMIM:615481
HP:0000234	Abnormality of the head	200373	CFAP221	ORPHA:244
HP:0000234	Abnormality of the head	55172	DNAAF2	ORPHA:244
HP:0000234	Abnormality of the head	161582	DNAAF4	ORPHA:244
HP:0000234	Abnormality of the head	161582	DNAAF4	OMIM:615482
HP:0000234	Abnormality of the head	23639	DNAAF11	ORPHA:244
HP:0000234	Abnormality of the head	54919	DNAAF5	ORPHA:244
HP:0000234	Abnormality of the head	6103	RPGR	ORPHA:244
HP:0000234	Abnormality of the head	388389	CCDC103	ORPHA:244
HP:0000234	Abnormality of the head	388389	CCDC103	OMIM:614679
HP:0000234	Abnormality of the head	93233	ODAD1	ORPHA:244
HP:0000234	Abnormality of the head	1767	DNAH5	ORPHA:244
HP:0000234	Abnormality of the head	345643	MCIDAS	ORPHA:244
HP:0000234	Abnormality of the head	345643	MCIDAS	OMIM:618695
HP:0000234	Abnormality of the head	56683	CFAP298	ORPHA:244
HP:0000234	Abnormality of the head	79925	SPEF2	ORPHA:244
HP:0000234	Abnormality of the head	10309	CCNO	ORPHA:244
HP:0000234	Abnormality of the head	115399	LRRC56	ORPHA:244
HP:0000234	Abnormality of the head	139212	DNAAF6	ORPHA:244
HP:0000234	Abnormality of the head	123872	DNAAF1	ORPHA:244
HP:0000234	Abnormality of the head	85016	CFAP300	ORPHA:244
HP:0000234	Abnormality of the head	339829	CCDC39	ORPHA:244
HP:0000234	Abnormality of the head	8701	DNAH11	ORPHA:244
HP:0000234	Abnormality of the head	8701	DNAH11	OMIM:611884
HP:0000234	Abnormality of the head	246176	GAS2L2	ORPHA:244
HP:0000234	Abnormality of the head	22861	NLRP1	OMIM:615225
HP:0000234	Abnormality of the head	11005	SPINK5	OMIM:256500
HP:0000234	Abnormality of the head	55315	SLC29A3	ORPHA:168569
HP:0000234	Abnormality of the head	3192	HNRNPU	ORPHA:238769
HP:0000234	Abnormality of the head	6595	SMARCA2	OMIM:619293
HP:0000234	Abnormality of the head	2239	GPC4	OMIM:301026
HP:0000234	Abnormality of the head	2239	GPC4	ORPHA:2662
HP:0000234	Abnormality of the head	5898	RALA	OMIM:619311
HP:0000234	Abnormality of the head	7355	SLC35A2	OMIM:300896
HP:0000234	Abnormality of the head	1182	CLCN3	OMIM:619512
HP:0000234	Abnormality of the head	9320	TRIP12	OMIM:617752
HP:0000234	Abnormality of the head	145173	B3GLCT	OMIM:261540
HP:0000234	Abnormality of the head	145173	B3GLCT	ORPHA:709
HP:0000234	Abnormality of the head	6659	SOX4	OMIM:618506
HP:0000234	Abnormality of the head	81857	MED25	ORPHA:464738
HP:0000234	Abnormality of the head	4897	NRCAM	OMIM:619833
HP:0000234	Abnormality of the head	93627	TBCK	OMIM:616900
HP:0000234	Abnormality of the head	79753	SNIP1	OMIM:614501
HP:0000234	Abnormality of the head	773	CACNA1A	ORPHA:2131
HP:0000234	Abnormality of the head	6507	SLC1A3	ORPHA:2131
HP:0000234	Abnormality of the head	477	ATP1A2	ORPHA:2131
HP:0000234	Abnormality of the head	478	ATP1A3	ORPHA:2131
HP:0000234	Abnormality of the head	64359	NXN	ORPHA:1507
HP:0000234	Abnormality of the head	4920	ROR2	ORPHA:1507
HP:0000234	Abnormality of the head	11198	SUPT16H	OMIM:619480
HP:0000234	Abnormality of the head	374654	KIF7	OMIM:200990
HP:0000234	Abnormality of the head	3020	H3-3A	OMIM:619720
HP:0000234	Abnormality of the head	388015	RTL1	ORPHA:254528
HP:0000234	Abnormality of the head	8788	DLK1	ORPHA:254528
HP:0000234	Abnormality of the head	55384	MEG3	ORPHA:254528
HP:0000234	Abnormality of the head	9442	MED27	OMIM:619286
HP:0000234	Abnormality of the head	57178	ZMIZ1	OMIM:618659
HP:0000234	Abnormality of the head	9772	TMEM94	OMIM:618316
HP:0000234	Abnormality of the head	3720	JARID2	OMIM:620098
HP:0000234	Abnormality of the head	58499	ZNF462	OMIM:618619
HP:0000234	Abnormality of the head	4297	KMT2A	OMIM:605130
HP:0000234	Abnormality of the head	11340	EXOSC8	OMIM:616081
HP:0000234	Abnormality of the head	7443	VRK1	OMIM:607596
HP:0000234	Abnormality of the head	4718	NDUFC2	OMIM:619170
HP:0000234	Abnormality of the head	3899	AFF3	OMIM:619297
HP:0000234	Abnormality of the head	23219	FBXO28	OMIM:619777
HP:0000234	Abnormality of the head	284086	NEK8	OMIM:615415
HP:0000234	Abnormality of the head	8884	SLC5A6	OMIM:618973
HP:0000234	Abnormality of the head	23203	PMPCA	ORPHA:1170
HP:0000234	Abnormality of the head	51300	TIMMDC1	OMIM:618251
HP:0000234	Abnormality of the head	57716	PRX	OMIM:614895
HP:0000234	Abnormality of the head	1893	ECM1	ORPHA:530
HP:0000234	Abnormality of the head	5654	HTRA1	ORPHA:199354
HP:0000234	Abnormality of the head	54800	KLHL24	OMIM:617294
HP:0000234	Abnormality of the head	23328	SASH1	OMIM:618373
HP:0000234	Abnormality of the head	5010	CLDN11	OMIM:619328
HP:0000234	Abnormality of the head	2192	FBLN1	ORPHA:404451
HP:0000234	Abnormality of the head	80856	LNPK	OMIM:618090
HP:0000234	Abnormality of the head	10846	PDE10A	ORPHA:494526
HP:0000234	Abnormality of the head	10846	PDE10A	OMIM:616921
HP:0000234	Abnormality of the head	57526	PCDH19	ORPHA:33069
HP:0000234	Abnormality of the head	55739	NAXD	OMIM:618321
HP:0000234	Abnormality of the head	57679	ALS2	OMIM:205100
HP:0000234	Abnormality of the head	57679	ALS2	OMIM:606353
HP:0000234	Abnormality of the head	6329	SCN4A	ORPHA:99734
HP:0000234	Abnormality of the head	79879	CCDC134	OMIM:619795
HP:0000234	Abnormality of the head	5593	PRKG2	OMIM:619638
HP:0000234	Abnormality of the head	5352	PLOD2	ORPHA:2771
HP:0000234	Abnormality of the head	5352	PLOD2	OMIM:609220
HP:0000234	Abnormality of the head	65125	WNK1	ORPHA:970
HP:0000234	Abnormality of the head	54463	RETREG1	ORPHA:970
HP:0000234	Abnormality of the head	11014	KDELR2	OMIM:619131
HP:0000234	Abnormality of the head	55603	TENT5A	OMIM:617952
HP:0000234	Abnormality of the head	90993	CREB3L1	OMIM:616229
HP:0000234	Abnormality of the head	5479	PPIB	OMIM:259440
HP:0000234	Abnormality of the head	387733	IFITM5	OMIM:610967
HP:0000234	Abnormality of the head	10273	STUB1	ORPHA:412057
HP:0000234	Abnormality of the head	10940	POP1	OMIM:617396
HP:0000234	Abnormality of the head	8985	PLOD3	OMIM:612394
HP:0000234	Abnormality of the head	81794	ADAMTS10	OMIM:277600
HP:0000234	Abnormality of the head	6473	SHOX	ORPHA:240
HP:0000234	Abnormality of the head	4524	MTHFR	ORPHA:563612
HP:0000234	Abnormality of the head	57216	VANGL2	ORPHA:563612
HP:0000234	Abnormality of the head	5162	PDHB	ORPHA:255138
HP:0000234	Abnormality of the head	5649	RELN	ORPHA:89844
HP:0000234	Abnormality of the head	10300	KATNB1	ORPHA:89844
HP:0000234	Abnormality of the head	54820	NDE1	ORPHA:89844
HP:0000234	Abnormality of the head	3178	HNRNPA1	ORPHA:52430
HP:0000234	Abnormality of the head	7415	VCP	ORPHA:52430
HP:0000234	Abnormality of the head	3181	HNRNPA2B1	ORPHA:52430
HP:0000234	Abnormality of the head	6424	SFRP4	OMIM:265900
HP:0000234	Abnormality of the head	64135	IFIH1	OMIM:182250
HP:0000234	Abnormality of the head	6611	SMS	OMIM:309583
HP:0000234	Abnormality of the head	166929	SGMS2	OMIM:126550
HP:0000234	Abnormality of the head	84196	USP48	ORPHA:96253
HP:0000234	Abnormality of the head	7157	TP53	ORPHA:96253
HP:0000234	Abnormality of the head	9101	USP8	ORPHA:96253
HP:0000234	Abnormality of the head	64072	CDH23	ORPHA:96253
HP:0000234	Abnormality of the head	2908	NR3C1	ORPHA:96253
HP:0000234	Abnormality of the head	8493	PPM1D	OMIM:617450
HP:0000234	Abnormality of the head	29899	GPSM2	OMIM:604213
HP:0000234	Abnormality of the head	137682	NDUFAF6	OMIM:618239
HP:0000234	Abnormality of the head	8888	MCM3AP	OMIM:618124
HP:0000234	Abnormality of the head	388662	SLC6A17	ORPHA:457212
HP:0000234	Abnormality of the head	6522	SLC4A2	OMIM:620366
HP:0000234	Abnormality of the head	79651	RHBDF2	OMIM:148500
HP:0000234	Abnormality of the head	286887	KRT6C	OMIM:615735
HP:0000234	Abnormality of the head	6117	RPA1	OMIM:619767
HP:0000234	Abnormality of the head	83483	PLVAP	OMIM:618183
HP:0000234	Abnormality of the head	3932	LCK	OMIM:615758
HP:0000234	Abnormality of the head	6809	STX3	OMIM:619446
HP:0000234	Abnormality of the head	11151	CORO1A	OMIM:615401
HP:0000234	Abnormality of the head	3952	LEP	ORPHA:66628
HP:0000234	Abnormality of the head	3952	LEP	OMIM:614962
HP:0000234	Abnormality of the head	3953	LEPR	OMIM:614963
HP:0000234	Abnormality of the head	3953	LEPR	ORPHA:179494
HP:0000234	Abnormality of the head	8456	FOXN1	OMIM:618806
HP:0000234	Abnormality of the head	6772	STAT1	ORPHA:391487
HP:0000234	Abnormality of the head	10043	TOM1	ORPHA:391487
HP:0000234	Abnormality of the head	920	CD4	OMIM:619238
HP:0000234	Abnormality of the head	3570	IL6R	OMIM:618944
HP:0000234	Abnormality of the head	5971	RELB	OMIM:617585
HP:0000234	Abnormality of the head	7388	UQCRH	OMIM:620137
HP:0000234	Abnormality of the head	9138	ARHGEF1	OMIM:618459
HP:0000234	Abnormality of the head	3588	IL10RB	OMIM:612567
HP:0000234	Abnormality of the head	64840	PORCN	OMIM:305600
HP:0000234	Abnormality of the head	10999	SLC27A4	OMIM:608649
HP:0000234	Abnormality of the head	1369	CPN1	OMIM:212070
HP:0000234	Abnormality of the head	7941	PLA2G7	OMIM:147050
HP:0000234	Abnormality of the head	50615	IL21R	OMIM:147050
HP:0000234	Abnormality of the head	3566	IL4R	OMIM:147050
HP:0000234	Abnormality of the head	2206	MS4A2	OMIM:147050
HP:0000234	Abnormality of the head	146206	CARMIL2	OMIM:618131
HP:0000234	Abnormality of the head	5238	PGM3	ORPHA:443811
HP:0000234	Abnormality of the head	5238	PGM3	OMIM:615816
HP:0000234	Abnormality of the head	5336	PLCG2	OMIM:614468
HP:0000234	Abnormality of the head	84701	COX4I2	OMIM:612714
HP:0000234	Abnormality of the head	3514	IGKC	ORPHA:183675
HP:0000234	Abnormality of the head	3501	IGHG2	ORPHA:183675
HP:0000234	Abnormality of the head	10617	STAMBP	OMIM:614261
HP:0000234	Abnormality of the head	28960	DCPS	OMIM:616459
HP:0000234	Abnormality of the head	10606	PAICS	OMIM:619859
HP:0000234	Abnormality of the head	2770	GNAI1	OMIM:619854
HP:0000234	Abnormality of the head	2903	GRIN2A	ORPHA:289266
HP:0000234	Abnormality of the head	2903	GRIN2A	OMIM:245570
HP:0000234	Abnormality of the head	25973	PARS2	OMIM:618437
HP:0000234	Abnormality of the head	4208	MEF2C	ORPHA:228384
HP:0000234	Abnormality of the head	4208	MEF2C	OMIM:613443
HP:0000234	Abnormality of the head	551	AVP	OMIM:125700
HP:0000234	Abnormality of the head	11342	RNF13	OMIM:618379
HP:0000234	Abnormality of the head	11342	RNF13	ORPHA:544503
HP:0000234	Abnormality of the head	158	ADSL	OMIM:103050
HP:0000234	Abnormality of the head	158	ADSL	ORPHA:46
HP:0000234	Abnormality of the head	10978	CLP1	OMIM:615803
HP:0000234	Abnormality of the head	4001	LMNB1	OMIM:619179
HP:0000234	Abnormality of the head	8913	CACNA1G	OMIM:618087
HP:0000234	Abnormality of the head	1889	ECE1	OMIM:613870
HP:0000234	Abnormality of the head	2752	GLUL	OMIM:610015
HP:0000234	Abnormality of the head	5063	PAK3	OMIM:300558
HP:0000234	Abnormality of the head	2677	GGCX	OMIM:277450
HP:0000234	Abnormality of the head	80324	PUS1	ORPHA:2598
HP:0000234	Abnormality of the head	51067	YARS2	ORPHA:2598
HP:0000234	Abnormality of the head	7407	VARS1	OMIM:617802
HP:0000234	Abnormality of the head	3313	HSPA9	OMIM:616854
HP:0000234	Abnormality of the head	3767	KCNJ11	ORPHA:79134
HP:0000234	Abnormality of the head	6833	ABCC8	ORPHA:79134
HP:0000234	Abnormality of the head	10907	TXNL4A	ORPHA:1200
HP:0000234	Abnormality of the head	202018	TAPT1	OMIM:616897
HP:0000234	Abnormality of the head	54676	GTPBP2	OMIM:617988
HP:0000234	Abnormality of the head	5331	PLCB3	OMIM:618961
HP:0000234	Abnormality of the head	11141	IL1RAPL1	OMIM:300143
HP:0000234	Abnormality of the head	92935	MARS2	OMIM:616430
HP:0000234	Abnormality of the head	406932	MIR140	OMIM:618618
HP:0000234	Abnormality of the head	2591	GALNT3	OMIM:211900
HP:0000234	Abnormality of the head	1834	DSPP	OMIM:125420
HP:0000234	Abnormality of the head	3166	HMX1	OMIM:612109
HP:0000234	Abnormality of the head	5805	PTS	ORPHA:13
HP:0000234	Abnormality of the head	5805	PTS	OMIM:261640
HP:0000234	Abnormality of the head	3106	HLA-B	ORPHA:36426
HP:0000234	Abnormality of the head	10320	IKZF1	ORPHA:36426
HP:0000234	Abnormality of the head	5860	QDPR	OMIM:261630
HP:0000234	Abnormality of the head	57468	SLC12A5	OMIM:616645
HP:0000234	Abnormality of the head	2643	GCH1	OMIM:233910
HP:0000234	Abnormality of the head	9256	TSPOAP1	ORPHA:101150
HP:0000234	Abnormality of the head	94	ACVRL1	OMIM:600376
HP:0000234	Abnormality of the head	2022	ENG	OMIM:187300
HP:0000234	Abnormality of the head	2811	GP1BA	ORPHA:274
HP:0000234	Abnormality of the head	2815	GP9	ORPHA:274
HP:0000234	Abnormality of the head	84343	HPS3	OMIM:614072
HP:0000234	Abnormality of the head	3674	ITGA2B	ORPHA:849
HP:0000234	Abnormality of the head	3690	ITGB3	ORPHA:849
HP:0000234	Abnormality of the head	4627	MYH9	ORPHA:182050
HP:0000234	Abnormality of the head	1130	LYST	OMIM:214500
HP:0000234	Abnormality of the head	2658	GDF2	OMIM:615506
HP:0000234	Abnormality of the head	3064	HTT	ORPHA:399
HP:0000234	Abnormality of the head	6515	SLC2A3	ORPHA:399
HP:0000234	Abnormality of the head	3972	LHB	OMIM:228300
HP:0000234	Abnormality of the head	558	AXL	OMIM:146110
HP:0000234	Abnormality of the head	2798	GNRHR	OMIM:146110
HP:0000234	Abnormality of the head	2796	GNRH1	OMIM:146110
HP:0000234	Abnormality of the head	10011	SRA1	OMIM:146110
HP:0000234	Abnormality of the head	4771	NF2	ORPHA:2495
HP:0000234	Abnormality of the head	6608	SMO	ORPHA:2495
HP:0000234	Abnormality of the head	7015	TERT	ORPHA:2495
HP:0000234	Abnormality of the head	2488	FSHB	OMIM:229070
HP:0000234	Abnormality of the head	10194	TSHZ1	OMIM:607842
HP:0000234	Abnormality of the head	23767	FLRT3	OMIM:615271
HP:0000234	Abnormality of the head	23767	FLRT3	ORPHA:478
HP:0000234	Abnormality of the head	128674	PROKR2	OMIM:244200
HP:0000234	Abnormality of the head	128674	PROKR2	ORPHA:478
HP:0000234	Abnormality of the head	11020	IFT27	OMIM:615996
HP:0000234	Abnormality of the head	120892	LRRK2	OMIM:607060
HP:0000234	Abnormality of the head	120892	LRRK2	ORPHA:411602
HP:0000234	Abnormality of the head	120892	LRRK2	ORPHA:2828
HP:0000234	Abnormality of the head	59335	PRDM12	OMIM:616488
HP:0000234	Abnormality of the head	54585	LZTFL1	OMIM:615994
HP:0000234	Abnormality of the head	23317	DNAJC13	ORPHA:411602
HP:0000234	Abnormality of the head	1981	EIF4G1	ORPHA:411602
HP:0000234	Abnormality of the head	55737	VPS35	ORPHA:411602
HP:0000234	Abnormality of the head	26058	GIGYF2	ORPHA:411602
HP:0000234	Abnormality of the head	6622	SNCA	ORPHA:411602
HP:0000234	Abnormality of the head	6622	SNCA	ORPHA:2828
HP:0000234	Abnormality of the head	2253	FGF8	OMIM:612702
HP:0000234	Abnormality of the head	2253	FGF8	ORPHA:478
HP:0000234	Abnormality of the head	60675	PROK2	OMIM:610628
HP:0000234	Abnormality of the head	60675	PROK2	ORPHA:478
HP:0000234	Abnormality of the head	3730	ANOS1	OMIM:308700
HP:0000234	Abnormality of the head	3730	ANOS1	ORPHA:478
HP:0000234	Abnormality of the head	81848	SPRY4	OMIM:615266
HP:0000234	Abnormality of the head	81848	SPRY4	ORPHA:478
HP:0000234	Abnormality of the head	6335	SCN9A	OMIM:243000
HP:0000234	Abnormality of the head	109	ADCY3	OMIM:617885
HP:0000234	Abnormality of the head	10371	SEMA3A	OMIM:614897
HP:0000234	Abnormality of the head	10371	SEMA3A	ORPHA:478
HP:0000234	Abnormality of the head	54832	VPS13C	ORPHA:2828
HP:0000234	Abnormality of the head	11315	PARK7	ORPHA:2828
HP:0000234	Abnormality of the head	7345	UCHL1	ORPHA:2828
HP:0000234	Abnormality of the head	27429	HTRA2	ORPHA:2828
HP:0000234	Abnormality of the head	9829	DNAJC6	ORPHA:2828
HP:0000234	Abnormality of the head	5420	PODXL	ORPHA:2828
HP:0000234	Abnormality of the head	65018	PINK1	ORPHA:2828
HP:0000234	Abnormality of the head	8867	SYNJ1	ORPHA:2828
HP:0000234	Abnormality of the head	5071	PRKN	ORPHA:2828
HP:0000234	Abnormality of the head	6342	SCP2	OMIM:613724
HP:0000234	Abnormality of the head	26012	NSMF	OMIM:614838
HP:0000234	Abnormality of the head	540	ATP7B	OMIM:277900
HP:0000234	Abnormality of the head	79625	NDNF	ORPHA:478
HP:0000234	Abnormality of the head	389549	FEZF1	ORPHA:478
HP:0000234	Abnormality of the head	1630	DCC	ORPHA:478
HP:0000234	Abnormality of the head	54756	IL17RD	ORPHA:478
HP:0000234	Abnormality of the head	6663	SOX10	ORPHA:478
HP:0000234	Abnormality of the head	285025	CCDC141	ORPHA:478
HP:0000234	Abnormality of the head	1848	DUSP6	ORPHA:478
HP:0000234	Abnormality of the head	6870	TACR3	ORPHA:478
HP:0000234	Abnormality of the head	9394	HS6ST1	ORPHA:478
HP:0000234	Abnormality of the head	8822	FGF17	ORPHA:478
HP:0000234	Abnormality of the head	79600	TCTN1	ORPHA:475
HP:0000234	Abnormality of the head	79848	CSPP1	ORPHA:475
HP:0000234	Abnormality of the head	51684	SUFU	ORPHA:475
HP:0000234	Abnormality of the head	54806	AHI1	ORPHA:475
HP:0000234	Abnormality of the head	54806	AHI1	ORPHA:220493
HP:0000234	Abnormality of the head	153241	CEP120	ORPHA:475
HP:0000234	Abnormality of the head	153241	CEP120	ORPHA:220493
HP:0000234	Abnormality of the head	65250	CPLANE1	ORPHA:475
HP:0000234	Abnormality of the head	65250	CPLANE1	ORPHA:2754
HP:0000234	Abnormality of the head	91147	TMEM67	ORPHA:475
HP:0000234	Abnormality of the head	91147	TMEM67	ORPHA:1454
HP:0000234	Abnormality of the head	200894	ARL13B	ORPHA:475
HP:0000234	Abnormality of the head	9731	CEP104	ORPHA:475
HP:0000234	Abnormality of the head	219844	HYLS1	ORPHA:475
HP:0000234	Abnormality of the head	23247	KATNIP	ORPHA:475
HP:0000234	Abnormality of the head	219854	TMEM218	ORPHA:475
HP:0000234	Abnormality of the head	54903	MKS1	ORPHA:475
HP:0000234	Abnormality of the head	54903	MKS1	ORPHA:220493
HP:0000234	Abnormality of the head	95681	CEP41	ORPHA:475
HP:0000234	Abnormality of the head	95681	CEP41	ORPHA:220493
HP:0000234	Abnormality of the head	9786	KIAA0586	ORPHA:475
HP:0000234	Abnormality of the head	56623	INPP5E	ORPHA:475
HP:0000234	Abnormality of the head	56623	INPP5E	ORPHA:1454
HP:0000234	Abnormality of the head	56623	INPP5E	ORPHA:220493
HP:0000234	Abnormality of the head	79867	TCTN2	ORPHA:475
HP:0000234	Abnormality of the head	80776	B9D2	ORPHA:475
HP:0000234	Abnormality of the head	10464	PIBF1	ORPHA:475
HP:0000234	Abnormality of the head	80210	ARMC9	ORPHA:475
HP:0000234	Abnormality of the head	23116	TOGARAM1	ORPHA:475
HP:0000234	Abnormality of the head	25776	CBY1	ORPHA:475
HP:0000234	Abnormality of the head	27077	B9D1	ORPHA:475
HP:0000234	Abnormality of the head	403	ARL3	ORPHA:475
HP:0000234	Abnormality of the head	65062	TMEM237	ORPHA:475
HP:0000234	Abnormality of the head	65062	TMEM237	ORPHA:2318
HP:0000234	Abnormality of the head	65062	TMEM237	ORPHA:220497
HP:0000234	Abnormality of the head	6309	SC5D	ORPHA:46059
HP:0000234	Abnormality of the head	3265	HRAS	ORPHA:2612
HP:0000234	Abnormality of the head	4893	NRAS	ORPHA:2612
HP:0000234	Abnormality of the head	9326	ZNHIT3	ORPHA:2836
HP:0000234	Abnormality of the head	547	KIF1A	ORPHA:2836
HP:0000234	Abnormality of the head	85378	TUBGCP6	ORPHA:2518
HP:0000234	Abnormality of the head	27229	TUBGCP4	ORPHA:2518
HP:0000234	Abnormality of the head	10733	PLK4	ORPHA:2518
HP:0000234	Abnormality of the head	5604	MAP2K1	ORPHA:1340
HP:0000234	Abnormality of the head	5605	MAP2K2	ORPHA:1340
HP:0000234	Abnormality of the head	673	BRAF	ORPHA:1340
HP:0000234	Abnormality of the head	7518	XRCC4	ORPHA:99812
HP:0000234	Abnormality of the head	3981	LIG4	ORPHA:99812
HP:0000234	Abnormality of the head	10225	CD96	ORPHA:1308
HP:0000234	Abnormality of the head	79583	TMEM231	ORPHA:2318
HP:0000234	Abnormality of the head	51524	TMEM138	ORPHA:2318
HP:0000234	Abnormality of the head	23090	ZNF423	ORPHA:2318
HP:0000234	Abnormality of the head	80184	CEP290	ORPHA:2318
HP:0000234	Abnormality of the head	51259	TMEM216	ORPHA:2318
HP:0000234	Abnormality of the head	51259	TMEM216	ORPHA:2754
HP:0000234	Abnormality of the head	57545	CC2D2A	ORPHA:2318
HP:0000234	Abnormality of the head	57545	CC2D2A	ORPHA:1454
HP:0000234	Abnormality of the head	10210	TOPORS	ORPHA:2754
HP:0000234	Abnormality of the head	9851	KIAA0753	ORPHA:2754
HP:0000234	Abnormality of the head	26123	TCTN3	ORPHA:2754
HP:0000234	Abnormality of the head	5147	PDE6D	ORPHA:2754
HP:0000234	Abnormality of the head	8481	OFD1	ORPHA:2754
HP:0000234	Abnormality of the head	317662	FAM149B1	ORPHA:2754
HP:0000234	Abnormality of the head	2626	GATA4	ORPHA:251071
HP:0000234	Abnormality of the head	29123	ANKRD11	ORPHA:261250
HP:0000234	Abnormality of the head	23322	RPGRIP1L	ORPHA:220497
HP:0000234	Abnormality of the head	23322	RPGRIP1L	ORPHA:1454
HP:0000234	Abnormality of the head	4867	NPHP1	ORPHA:220497
HP:0000234	Abnormality of the head	8450	CUL4B	ORPHA:85293
HP:0000234	Abnormality of the head	1717	DHCR7	ORPHA:818
HP:0000234	Abnormality of the head	57192	MCOLN1	ORPHA:578
HP:0000234	Abnormality of the head	257	ALX3	OMIM:136760
HP:0000234	Abnormality of the head	257	ALX3	ORPHA:391474
HP:0000234	Abnormality of the head	8092	ALX1	ORPHA:306542
HP:0000234	Abnormality of the head	91949	COG7	OMIM:608779
HP:0000234	Abnormality of the head	11285	B4GALT7	OMIM:130070
HP:0000234	Abnormality of the head	818	CAMK2G	OMIM:618522
HP:0000234	Abnormality of the head	55699	IARS2	OMIM:616007
HP:0000234	Abnormality of the head	2132	EXT2	ORPHA:466926
HP:0000234	Abnormality of the head	340665	CYP26C1	ORPHA:398189
HP:0000234	Abnormality of the head	4052	LTBP1	ORPHA:90349
HP:0000234	Abnormality of the head	30008	EFEMP2	ORPHA:90349
HP:0000234	Abnormality of the head	10516	FBLN5	ORPHA:90349
HP:0000234	Abnormality of the head	4035	LRP1	ORPHA:79100
HP:0000234	Abnormality of the head	23522	KAT6B	ORPHA:3047
HP:0000234	Abnormality of the head	6804	STX1A	ORPHA:904
HP:0000234	Abnormality of the head	7461	CLIP2	ORPHA:904
HP:0000234	Abnormality of the head	84277	DNAJC30	ORPHA:904
HP:0000234	Abnormality of the head	8468	FKBP6	ORPHA:904
HP:0000234	Abnormality of the head	5982	RFC2	ORPHA:904
HP:0000234	Abnormality of the head	2969	GTF2I	ORPHA:904
HP:0000234	Abnormality of the head	3984	LIMK1	ORPHA:904
HP:0000234	Abnormality of the head	9569	GTF2IRD1	ORPHA:904
HP:0000234	Abnormality of the head	155382	VPS37D	ORPHA:904
HP:0000234	Abnormality of the head	155368	METTL27	ORPHA:904
HP:0000234	Abnormality of the head	114049	BUD23	ORPHA:904
HP:0000234	Abnormality of the head	7458	EIF4H	ORPHA:904
HP:0000234	Abnormality of the head	84163	GTF2IRD2	ORPHA:904
HP:0000234	Abnormality of the head	9275	BCL7B	ORPHA:904
HP:0000234	Abnormality of the head	26608	TBL2	ORPHA:904
HP:0000234	Abnormality of the head	653361	NCF1	ORPHA:904
HP:0000234	Abnormality of the head	135886	TMEM270	ORPHA:904
HP:0000234	Abnormality of the head	51085	MLXIPL	ORPHA:904
HP:0000234	Abnormality of the head	9031	BAZ1B	ORPHA:904
HP:0000234	Abnormality of the head	2006	ELN	ORPHA:904
HP:0000234	Abnormality of the head	341208	HEPHL1	OMIM:261990
HP:0000234	Abnormality of the head	2193	FARSA	OMIM:619013
HP:0000234	Abnormality of the head	3643	INSR	OMIM:246200
HP:0000234	Abnormality of the head	5290	PIK3CA	OMIM:612918
HP:0000234	Abnormality of the head	4125	MAN2B1	ORPHA:309282
HP:0000234	Abnormality of the head	50964	SOST	ORPHA:3416
HP:0000234	Abnormality of the head	4041	LRP5	ORPHA:3416
HP:0000234	Abnormality of the head	4982	TNFRSF11B	ORPHA:2801
HP:0000234	Abnormality of the head	8792	TNFRSF11A	ORPHA:2801
HP:0000234	Abnormality of the head	9791	PTDSS1	ORPHA:2658
HP:0000234	Abnormality of the head	56172	ANKH	OMIM:123000
HP:0000234	Abnormality of the head	57187	THOC2	ORPHA:457240
HP:0000234	Abnormality of the head	3425	IDUA	OMIM:607014
HP:0000234	Abnormality of the head	760	CA2	OMIM:259730
HP:0000234	Abnormality of the head	8600	TNFSF11	OMIM:259710
HP:0000234	Abnormality of the head	2697	GJA1	ORPHA:2710
HP:0000234	Abnormality of the head	28962	OSTM1	OMIM:259720
HP:0000234	Abnormality of the head	7840	ALMS1	ORPHA:64
HP:0000234	Abnormality of the head	7840	ALMS1	OMIM:203800
HP:0000234	Abnormality of the head	2778	GNAS	ORPHA:79443
HP:0000234	Abnormality of the head	1947	EFNB1	OMIM:304110
HP:0000234	Abnormality of the head	29957	SLC25A24	ORPHA:2095
HP:0000234	Abnormality of the head	29957	SLC25A24	OMIM:612289
HP:0000234	Abnormality of the head	5034	P4HB	OMIM:112240
HP:0000234	Abnormality of the head	2961	GTF2E2	OMIM:616943
HP:0000234	Abnormality of the head	2261	FGFR3	ORPHA:53271
HP:0000234	Abnormality of the head	2261	FGFR3	OMIM:602849
HP:0000234	Abnormality of the head	147372	CCBE1	OMIM:235510
HP:0000234	Abnormality of the head	1513	CTSK	ORPHA:763
HP:0000234	Abnormality of the head	60529	ALX4	ORPHA:228390
HP:0000234	Abnormality of the head	54928	BPNT2	OMIM:614078
HP:0000234	Abnormality of the head	2260	FGFR1	OMIM:101600
HP:0000234	Abnormality of the head	2260	FGFR1	OMIM:123150
HP:0000234	Abnormality of the head	5422	POLA1	ORPHA:163976
HP:0000234	Abnormality of the head	5977	DPF2	OMIM:618027
HP:0000234	Abnormality of the head	6651	SON	ORPHA:500150
HP:0000234	Abnormality of the head	6938	TCF12	OMIM:615314
HP:0000234	Abnormality of the head	1801	DPH1	OMIM:616901
HP:0000234	Abnormality of the head	1801	DPH1	ORPHA:459061
HP:0000234	Abnormality of the head	1788	DNMT3A	OMIM:615879
HP:0000234	Abnormality of the head	3845	KRAS	OMIM:609942
HP:0000234	Abnormality of the head	526	ATP6V1B2	ORPHA:79500
HP:0000234	Abnormality of the head	57465	TBC1D24	ORPHA:79500
HP:0000234	Abnormality of the head	55764	IFT122	OMIM:218330
HP:0000234	Abnormality of the head	8318	CDC45	OMIM:617063
HP:0000234	Abnormality of the head	112752	IFT43	OMIM:614099
HP:0000234	Abnormality of the head	57728	WDR19	OMIM:614378
HP:0000234	Abnormality of the head	23384	SPECC1L	OMIM:145420
HP:0000234	Abnormality of the head	169792	GLIS3	OMIM:610199
HP:0000234	Abnormality of the head	3190	HNRNPK	ORPHA:453504
HP:0000234	Abnormality of the head	3190	HNRNPK	ORPHA:352665
HP:0000234	Abnormality of the head	9401	RECQL4	OMIM:218600
HP:0000234	Abnormality of the head	2077	ERF	OMIM:600775
HP:0000234	Abnormality of the head	267010	RNU12	OMIM:603116
HP:0000234	Abnormality of the head	652	BMP4	OMIM:607932
HP:0000234	Abnormality of the head	9871	SEC24D	OMIM:616294
HP:0000234	Abnormality of the head	51715	RAB23	OMIM:201000
HP:0000234	Abnormality of the head	3590	IL11RA	OMIM:614188
HP:0000234	Abnormality of the head	51604	PIGT	OMIM:615398
HP:0000234	Abnormality of the head	7545	ZIC1	OMIM:618736
HP:0000234	Abnormality of the head	5648	MASP1	OMIM:257920
HP:0000234	Abnormality of the head	5447	POR	OMIM:207410
HP:0000234	Abnormality of the head	2263	FGFR2	OMIM:207410
HP:0000234	Abnormality of the head	2263	FGFR2	OMIM:101400
HP:0000234	Abnormality of the head	2263	FGFR2	OMIM:123500
HP:0000234	Abnormality of the head	2263	FGFR2	OMIM:101200
HP:0000234	Abnormality of the head	7291	TWIST1	OMIM:101400
HP:0000234	Abnormality of the head	2773	GNAI3	OMIM:602483
HP:0000234	Abnormality of the head	6850	SYK	OMIM:619381
HP:0000234	Abnormality of the head	1909	EDNRA	OMIM:616367
HP:0000234	Abnormality of the head	9451	EIF2AK3	OMIM:226980
HP:0000234	Abnormality of the head	2688	GH1	OMIM:262400
HP:0000234	Abnormality of the head	4724	NDUFS4	OMIM:252010
HP:0000234	Abnormality of the head	2670	GFAP	OMIM:203450
HP:0000234	Abnormality of the head	2670	GFAP	ORPHA:363717
HP:0000234	Abnormality of the head	3911	LAMA5	OMIM:620076
HP:0000234	Abnormality of the head	7067	THRA	OMIM:614450
HP:0000234	Abnormality of the head	57194	ATP10A	ORPHA:411515
HP:0000234	Abnormality of the head	4618	MYF6	ORPHA:169189
HP:0000234	Abnormality of the head	6916	TBXAS1	ORPHA:1802
HP:0000234	Abnormality of the head	124590	USH1G	OMIM:606943
HP:0000234	Abnormality of the head	10992	SF3B2	OMIM:164210
HP:0000234	Abnormality of the head	60482	SLC5A7	ORPHA:98914
HP:0000234	Abnormality of the head	4649	MYO9A	ORPHA:98914
HP:0000234	Abnormality of the head	1305	COL13A1	ORPHA:98914
HP:0000234	Abnormality of the head	1103	CHAT	ORPHA:98914
HP:0000234	Abnormality of the head	6576	SLC25A1	ORPHA:98914
HP:0000234	Abnormality of the head	6843	VAMP1	ORPHA:98914
HP:0000234	Abnormality of the head	375790	AGRN	ORPHA:98914
HP:0000234	Abnormality of the head	127833	SYT2	ORPHA:98914
HP:0000234	Abnormality of the head	6572	SLC18A3	ORPHA:98914
HP:0000234	Abnormality of the head	6616	SNAP25	ORPHA:98914
HP:0000234	Abnormality of the head	1836	SLC26A2	ORPHA:56304
HP:0000234	Abnormality of the head	1763	DNA2	ORPHA:352470
HP:0000234	Abnormality of the head	1763	DNA2	OMIM:615156
HP:0000234	Abnormality of the head	63895	PIEZO2	OMIM:108145
HP:0000234	Abnormality of the head	5745	PTH1R	OMIM:156400
HP:0000234	Abnormality of the head	5837	PYGM	ORPHA:368
HP:0000234	Abnormality of the head	4604	MYBPC1	OMIM:618524
HP:0000234	Abnormality of the head	201163	FLCN	OMIM:610883
HP:0000234	Abnormality of the head	50651	SLC45A1	OMIM:617532
HP:0000234	Abnormality of the head	116931	MED12L	OMIM:618872
HP:0000234	Abnormality of the head	50485	SMARCAL1	ORPHA:1830
HP:0000234	Abnormality of the head	50485	SMARCAL1	OMIM:242900
HP:0000234	Abnormality of the head	3373	HYAL1	OMIM:601492
HP:0000234	Abnormality of the head	3736	KCNA1	ORPHA:1934
HP:0000234	Abnormality of the head	2775	GNAO1	ORPHA:1934
HP:0000234	Abnormality of the head	81603	TRIM8	ORPHA:1934
HP:0000234	Abnormality of the head	79751	SLC25A22	ORPHA:1934
HP:0000234	Abnormality of the head	150094	SIK1	ORPHA:1934
HP:0000234	Abnormality of the head	2917	GRM7	ORPHA:1934
HP:0000234	Abnormality of the head	11284	PNKP	ORPHA:1934
HP:0000234	Abnormality of the head	6326	SCN2A	ORPHA:1934
HP:0000234	Abnormality of the head	51227	PIGP	ORPHA:1934
HP:0000234	Abnormality of the head	6324	SCN1B	ORPHA:1934
HP:0000234	Abnormality of the head	4761	NEUROD2	ORPHA:1934
HP:0000234	Abnormality of the head	84634	KISS1R	ORPHA:432
HP:0000234	Abnormality of the head	6866	TAC3	ORPHA:432
HP:0000234	Abnormality of the head	3814	KISS1	ORPHA:432
HP:0000234	Abnormality of the head	6045	RNF2	OMIM:619460
HP:0000234	Abnormality of the head	84081	NSRP1	OMIM:620001
HP:0000234	Abnormality of the head	2801	GOLGA2	OMIM:620240
HP:0000234	Abnormality of the head	6499	SKIC2	OMIM:614602
HP:0000234	Abnormality of the head	124512	METTL23	OMIM:615942
HP:0000234	Abnormality of the head	10236	HNRNPR	OMIM:620073
HP:0000234	Abnormality of the head	6509	SLC1A4	ORPHA:447997
HP:0000234	Abnormality of the head	79644	SRD5A3	OMIM:612379
HP:0000234	Abnormality of the head	57211	ADGRG6	OMIM:616503
HP:0000234	Abnormality of the head	4190	MDH1	OMIM:618959
HP:0000234	Abnormality of the head	3198	HOXA1	OMIM:601536
HP:0000234	Abnormality of the head	1371	CPOX	ORPHA:79273
HP:0000234	Abnormality of the head	10015	PDCD6IP	OMIM:620047
HP:0000234	Abnormality of the head	3119	HLA-DQB1	OMIM:123400
HP:0000234	Abnormality of the head	5376	PMP22	ORPHA:98916
HP:0000234	Abnormality of the head	1785	DNM2	OMIM:160150
HP:0000234	Abnormality of the head	64419	MTMR14	OMIM:160150
HP:0000234	Abnormality of the head	126695	KDF1	OMIM:617337
HP:0000234	Abnormality of the head	5361	PLXNA1	OMIM:619955
HP:0000234	Abnormality of the head	112802	KRT71	ORPHA:170
HP:0000234	Abnormality of the head	92255	LMBRD2	OMIM:619694
HP:0000234	Abnormality of the head	6926	TBX3	OMIM:181450
HP:0000234	Abnormality of the head	10524	KAT5	OMIM:619103
HP:0000234	Abnormality of the head	60495	HPSE2	OMIM:236730
HP:0000234	Abnormality of the head	7280	TUBB2A	OMIM:615763
HP:0000234	Abnormality of the head	9365	KL	OMIM:617994
HP:0000234	Abnormality of the head	83700	JAM3	OMIM:613730
HP:0000234	Abnormality of the head	6571	SLC18A2	ORPHA:352649
HP:0000234	Abnormality of the head	22854	NTNG1	ORPHA:3095
HP:0000234	Abnormality of the head	55610	VPS50	OMIM:619685
HP:0000234	Abnormality of the head	9512	PMPCB	OMIM:617954
HP:0000234	Abnormality of the head	8560	DEGS1	OMIM:618404
HP:0000234	Abnormality of the head	54675	CRLS1	OMIM:620167
HP:0000234	Abnormality of the head	1641	DCX	ORPHA:2148
HP:0000234	Abnormality of the head	51501	HIKESHI	OMIM:616881
HP:0000234	Abnormality of the head	56947	MFF	ORPHA:485421
HP:0000234	Abnormality of the head	56947	MFF	OMIM:617086
HP:0000234	Abnormality of the head	539	ATP5PO	OMIM:620359
HP:0000234	Abnormality of the head	9440	MED17	OMIM:613668
HP:0000234	Abnormality of the head	125988	MICOS13	OMIM:618329
HP:0000234	Abnormality of the head	1719	DHFR	OMIM:613839
HP:0000234	Abnormality of the head	205327	C2orf69	OMIM:619423
HP:0000234	Abnormality of the head	51693	TRAPPC2L	OMIM:618331
HP:0000234	Abnormality of the head	57017	COQ9	OMIM:614654
HP:0000234	Abnormality of the head	3329	HSPD1	OMIM:612233
HP:0000234	Abnormality of the head	2744	GLS	OMIM:618339
HP:0000234	Abnormality of the head	2645	GCK	ORPHA:99885
HP:0000234	Abnormality of the head	3651	PDX1	ORPHA:99885
HP:0000234	Abnormality of the head	3630	INS	ORPHA:99885
HP:0000234	Abnormality of the head	10312	TCIRG1	ORPHA:210110
HP:0000234	Abnormality of the head	1186	CLCN7	ORPHA:210110
HP:0000234	Abnormality of the head	9842	PLEKHM1	ORPHA:210110
HP:0000234	Abnormality of the head	23516	SLC39A14	OMIM:144755
HP:0000234	Abnormality of the head	22943	DKK1	ORPHA:268882
HP:0000234	Abnormality of the head	4853	NOTCH2	OMIM:102500
HP:0000234	Abnormality of the head	401138	AMTN	OMIM:617607
HP:0000234	Abnormality of the head	152816	ODAPH	OMIM:614832
HP:0000234	Abnormality of the head	80320	SP6	OMIM:620104
HP:0000234	Abnormality of the head	284654	RSPO1	OMIM:610644
HP:0000234	Abnormality of the head	7700	ZNF141	OMIM:615226
HP:0000234	Abnormality of the head	27247	NFU1	OMIM:605711
HP:0000234	Abnormality of the head	112476	PRRT2	ORPHA:569
HP:0000234	Abnormality of the head	727676	SNORD118	ORPHA:542310
HP:0000234	Abnormality of the head	977	CD151	OMIM:609057
HP:0000234	Abnormality of the head	8626	TP63	ORPHA:69085
HP:0000234	Abnormality of the head	85465	SELENOI	ORPHA:506353
HP:0000234	Abnormality of the head	4514	MT-CO3	OMIM:535000
HP:0000234	Abnormality of the head	4519	MT-CYB	OMIM:535000
HP:0000234	Abnormality of the head	4541	MT-ND6	OMIM:535000
HP:0000234	Abnormality of the head	4540	MT-ND5	OMIM:535000
HP:0000234	Abnormality of the head	4539	MT-ND4L	OMIM:535000
HP:0000234	Abnormality of the head	4535	MT-ND1	OMIM:535000
HP:0000234	Abnormality of the head	4536	MT-ND2	OMIM:535000
HP:0000234	Abnormality of the head	4538	MT-ND4	OMIM:535000
HP:0000234	Abnormality of the head	2255	FGF10	OMIM:620193
HP:0000234	Abnormality of the head	2255	FGF10	ORPHA:2363
HP:0000234	Abnormality of the head	341640	FREM2	ORPHA:2052
HP:0000234	Abnormality of the head	80144	FRAS1	ORPHA:2052
HP:0000234	Abnormality of the head	80144	FRAS1	OMIM:219000
HP:0000234	Abnormality of the head	23426	GRIP1	ORPHA:2052
HP:0000234	Abnormality of the head	8295	TRRAP	OMIM:618454
HP:0000234	Abnormality of the head	2138	EYA1	OMIM:113650
HP:0000234	Abnormality of the head	6495	SIX1	OMIM:113650
HP:0000234	Abnormality of the head	387	RHOA	OMIM:618727
HP:0000234	Abnormality of the head	79718	TBL1XR1	OMIM:602342
HP:0000234	Abnormality of the head	84570	COL25A1	ORPHA:91411
HP:0000234	Abnormality of the head	79776	ZFHX4	ORPHA:91411
HP:0000234	Abnormality of the head	7439	BEST1	OMIM:193220
HP:0000234	Abnormality of the head	1890	TYMP	ORPHA:298
HP:0000234	Abnormality of the head	3980	LIG3	ORPHA:298
HP:0000234	Abnormality of the head	2972	BRF1	ORPHA:444072
HP:0000234	Abnormality of the head	8241	RBM10	ORPHA:2886
HP:0000234	Abnormality of the head	9775	EIF4A3	OMIM:268305
HP:0000234	Abnormality of the head	5307	PITX1	OMIM:119800
HP:0000234	Abnormality of the head	81788	NUAK2	OMIM:619452
HP:0000234	Abnormality of the head	529	ATP6V1E1	OMIM:617402
HP:0000234	Abnormality of the head	22858	CILK1	OMIM:612651
HP:0000234	Abnormality of the head	8111	GPR68	OMIM:617217
HP:0000234	Abnormality of the head	7428	VHL	ORPHA:892
HP:0000234	Abnormality of the head	7428	VHL	ORPHA:29072
HP:0000234	Abnormality of the head	7428	VHL	OMIM:193300
HP:0000234	Abnormality of the head	595	CCND1	ORPHA:892
HP:0000234	Abnormality of the head	595	CCND1	OMIM:193300
HP:0000234	Abnormality of the head	1743	DLST	ORPHA:29072
HP:0000234	Abnormality of the head	4191	MDH2	ORPHA:29072
HP:0000234	Abnormality of the head	6389	SDHA	ORPHA:29072
HP:0000234	Abnormality of the head	23095	KIF1B	ORPHA:29072
HP:0000234	Abnormality of the head	8402	SLC25A11	ORPHA:29072
HP:0000234	Abnormality of the head	54949	SDHAF2	ORPHA:29072
HP:0000234	Abnormality of the head	55654	TMEM127	ORPHA:29072
HP:0000234	Abnormality of the head	4149	MAX	ORPHA:29072
HP:0000234	Abnormality of the head	4292	MLH1	OMIM:158320
HP:0000234	Abnormality of the head	4292	MLH1	ORPHA:587
HP:0000234	Abnormality of the head	4436	MSH2	OMIM:158320
HP:0000234	Abnormality of the head	4436	MSH2	ORPHA:587
HP:0000234	Abnormality of the head	7249	TSC2	OMIM:613254
HP:0000234	Abnormality of the head	3458	IFNG	OMIM:613254
HP:0000234	Abnormality of the head	7248	TSC1	OMIM:191100
HP:0000234	Abnormality of the head	258	AMBN	OMIM:616270
HP:0000234	Abnormality of the head	3914	LAMB3	OMIM:104530
HP:0000234	Abnormality of the head	1308	COL17A1	OMIM:619787
HP:0000234	Abnormality of the head	1308	COL17A1	ORPHA:251393
HP:0000234	Abnormality of the head	2956	MSH6	OMIM:619097
HP:0000234	Abnormality of the head	2303	FOXC2	OMIM:153400
HP:0000234	Abnormality of the head	2303	FOXC2	ORPHA:33001
HP:0000234	Abnormality of the head	30062	RAX	OMIM:611038
HP:0000234	Abnormality of the head	29926	GMPPA	OMIM:615510
HP:0000234	Abnormality of the head	54361	WNT4	ORPHA:247768
HP:0000234	Abnormality of the head	4654	MYOD1	OMIM:618975
HP:0000234	Abnormality of the head	9573	GDF3	OMIM:613703
HP:0000234	Abnormality of the head	7473	WNT3	OMIM:273395
HP:0000234	Abnormality of the head	165	AEBP1	ORPHA:536532
HP:0000234	Abnormality of the head	5396	PRRX1	OMIM:202650
HP:0000234	Abnormality of the head	5396	PRRX1	ORPHA:990
HP:0000234	Abnormality of the head	5015	OTX2	ORPHA:990
HP:0000234	Abnormality of the head	5371	PML	ORPHA:520
HP:0000234	Abnormality of the head	5914	RARA	ORPHA:520
HP:0000234	Abnormality of the head	359948	IRF2BP2	ORPHA:520
HP:0000234	Abnormality of the head	81608	FIP1L1	ORPHA:520
HP:0000234	Abnormality of the head	64859	NABP1	ORPHA:520
HP:0000234	Abnormality of the head	4926	NUMA1	ORPHA:520
HP:0000234	Abnormality of the head	7704	ZBTB16	ORPHA:520
HP:0000234	Abnormality of the head	2642	GCGR	ORPHA:438274
HP:0000234	Abnormality of the head	3702	ITK	OMIM:613011
HP:0000234	Abnormality of the head	84876	ORAI1	OMIM:612782
HP:0000234	Abnormality of the head	399	RHOH	OMIM:618307
HP:0000234	Abnormality of the head	10379	IRF9	OMIM:618648
HP:0000234	Abnormality of the head	3557	IL1RN	OMIM:612852
HP:0000234	Abnormality of the head	3117	HLA-DQA1	OMIM:212750
HP:0000234	Abnormality of the head	959	CD40LG	OMIM:308230
HP:0000234	Abnormality of the head	215	ABCD1	ORPHA:139399
HP:0000234	Abnormality of the head	4967	OGDH	ORPHA:31
HP:0000234	Abnormality of the head	567	B2M	ORPHA:314652
HP:0000234	Abnormality of the head	9894	TELO2	ORPHA:488642
HP:0000234	Abnormality of the head	265	AMELX	OMIM:301200
HP:0000234	Abnormality of the head	93650	ACP4	OMIM:617297
HP:0000234	Abnormality of the head	81887	LAS1L	ORPHA:3459
HP:0000234	Abnormality of the head	9150	CTDP1	OMIM:604168
HP:0000234	Abnormality of the head	9150	CTDP1	ORPHA:48431
HP:0000234	Abnormality of the head	286053	NSMCE2	ORPHA:436182
HP:0000234	Abnormality of the head	1291	COL6A1	OMIM:254090
HP:0000234	Abnormality of the head	1292	COL6A2	OMIM:254090
HP:0000234	Abnormality of the head	1292	COL6A2	OMIM:255600
HP:0000234	Abnormality of the head	1293	COL6A3	OMIM:254090
HP:0000234	Abnormality of the head	825	CAPN3	OMIM:253600
HP:0000234	Abnormality of the head	79581	SLC52A2	OMIM:614707
HP:0000234	Abnormality of the head	10049	DNAJB6	OMIM:603511
HP:0000234	Abnormality of the head	1120	CHKB	OMIM:602541
HP:0000234	Abnormality of the head	84466	MEGF10	OMIM:614399
HP:0000234	Abnormality of the head	1798	DPAGT1	ORPHA:353327
HP:0000234	Abnormality of the head	8878	SQSTM1	OMIM:617158
HP:0000234	Abnormality of the head	9531	BAG3	OMIM:612954
HP:0000234	Abnormality of the head	84617	TUBB6	OMIM:617732
HP:0000234	Abnormality of the head	80704	SLC19A3	OMIM:607483
HP:0000234	Abnormality of the head	8898	MTMR2	OMIM:601382
HP:0000234	Abnormality of the head	2934	GSN	ORPHA:85448
HP:0000234	Abnormality of the head	8292	COLQ	ORPHA:98915
HP:0000234	Abnormality of the head	3913	LAMB2	ORPHA:98915
HP:0000234	Abnormality of the head	6444	SGCD	ORPHA:219
HP:0000234	Abnormality of the head	339855	KY	OMIM:617114
HP:0000234	Abnormality of the head	64127	NOD2	ORPHA:90340
HP:0000234	Abnormality of the head	203859	ANO5	OMIM:611307
HP:0000234	Abnormality of the head	203859	ANO5	ORPHA:206549
HP:0000234	Abnormality of the head	59341	TRPV4	OMIM:181405
HP:0000234	Abnormality of the head	11146	GLMN	ORPHA:83454
HP:0000234	Abnormality of the head	427	ASAH1	ORPHA:333
HP:0000234	Abnormality of the head	427	ASAH1	OMIM:228000
HP:0000234	Abnormality of the head	2581	GALC	ORPHA:206436
HP:0000234	Abnormality of the head	5660	PSAP	ORPHA:206436
HP:0000234	Abnormality of the head	3073	HEXA	OMIM:272800
HP:0000234	Abnormality of the head	1615	DARS1	OMIM:615281
HP:0000234	Abnormality of the head	2760	GM2A	ORPHA:309246
HP:0000234	Abnormality of the head	54840	APTX	ORPHA:1168
HP:0000234	Abnormality of the head	3560	IL2RB	ORPHA:85408
HP:0000234	Abnormality of the head	79722	ANKRD55	ORPHA:85408
HP:0000234	Abnormality of the head	919	CD247	ORPHA:85408
HP:0000234	Abnormality of the head	5771	PTPN2	ORPHA:85408
HP:0000234	Abnormality of the head	1499	CTNNB1	ORPHA:54595
HP:0000234	Abnormality of the head	84957	RELT	OMIM:618386
HP:0000234	Abnormality of the head	256764	WDR72	OMIM:613211
HP:0000234	Abnormality of the head	356	FASLG	ORPHA:3261
HP:0000234	Abnormality of the head	843	CASP10	ORPHA:3261
HP:0000234	Abnormality of the head	10125	RASGRP1	ORPHA:3261
HP:0000234	Abnormality of the head	1053	CEBPE	OMIM:260570
HP:0000234	Abnormality of the head	6097	RORC	OMIM:616622
HP:0000234	Abnormality of the head	84818	IL17RC	OMIM:616445
HP:0000234	Abnormality of the head	51311	TLR8	OMIM:301078
HP:0000234	Abnormality of the head	9948	WDR1	OMIM:150550
HP:0000234	Abnormality of the head	3569	IL6	OMIM:266600
HP:0000234	Abnormality of the head	148022	TICAM1	OMIM:614850
HP:0000234	Abnormality of the head	91662	NLRP12	OMIM:611762
HP:0000234	Abnormality of the head	149233	IL23R	ORPHA:117
HP:0000234	Abnormality of the head	6775	STAT4	ORPHA:117
HP:0000234	Abnormality of the head	3586	IL10	ORPHA:117
HP:0000234	Abnormality of the head	1230	CCR1	ORPHA:117
HP:0000234	Abnormality of the head	3592	IL12A	ORPHA:117
HP:0000234	Abnormality of the head	101928376	IL12A-AS1	ORPHA:117
HP:0000234	Abnormality of the head	7099	TLR4	ORPHA:117
HP:0000234	Abnormality of the head	3459	IFNGR1	ORPHA:117
HP:0000234	Abnormality of the head	720	C4A	ORPHA:117
HP:0000234	Abnormality of the head	337867	UBAC2	ORPHA:117
HP:0000234	Abnormality of the head	51752	ERAP1	ORPHA:117
HP:0000234	Abnormality of the head	8302	KLRC4	ORPHA:117
HP:0000234	Abnormality of the head	30011	SH3KBP1	OMIM:300310
HP:0000234	Abnormality of the head	5880	RAC2	OMIM:618986
HP:0000234	Abnormality of the head	987	LRBA	OMIM:614700
HP:0000234	Abnormality of the head	3426	CFI	OMIM:610984
HP:0000234	Abnormality of the head	6813	STXBP2	OMIM:613101
HP:0000234	Abnormality of the head	8382	NME5	OMIM:620032
HP:0000234	Abnormality of the head	84061	MAGT1	OMIM:300853
HP:0000234	Abnormality of the head	10625	IVNS1ABP	OMIM:618969
HP:0000234	Abnormality of the head	4194	MDM4	OMIM:618849
HP:0000234	Abnormality of the head	3551	IKBKB	OMIM:618204
HP:0000234	Abnormality of the head	23765	IL17RA	OMIM:613953
HP:0000234	Abnormality of the head	81704	DOCK8	OMIM:243700
HP:0000234	Abnormality of the head	81704	DOCK8	ORPHA:217390
HP:0000234	Abnormality of the head	721	C4B	OMIM:614379
HP:0000234	Abnormality of the head	6688	SPI1	OMIM:619707
HP:0000234	Abnormality of the head	146845	CFAP52	OMIM:619607
HP:0000234	Abnormality of the head	25790	CFAP45	OMIM:619608
HP:0000234	Abnormality of the head	3559	IL2RA	OMIM:606367
HP:0000234	Abnormality of the head	64780	MICAL1	OMIM:600512
HP:0000234	Abnormality of the head	9211	LGI1	OMIM:600512
HP:0000234	Abnormality of the head	8720	MBTPS1	OMIM:618392
HP:0000234	Abnormality of the head	1024	CDK8	OMIM:618748
HP:0000234	Abnormality of the head	8604	SLC25A12	OMIM:612949
HP:0000234	Abnormality of the head	27185	DISC1	ORPHA:171703
HP:0000234	Abnormality of the head	8320	EOMES	ORPHA:171703
HP:0000234	Abnormality of the head	4905	NSF	OMIM:619340
HP:0000234	Abnormality of the head	87178	PNPT1	OMIM:608703
HP:0000234	Abnormality of the head	87178	PNPT1	ORPHA:101111
HP:0000234	Abnormality of the head	3785	KCNQ2	ORPHA:1949
HP:0000234	Abnormality of the head	7276	TTR	OMIM:105210
HP:0000234	Abnormality of the head	1355	COX15	OMIM:615119
HP:0000234	Abnormality of the head	283120	H19	ORPHA:231144
HP:0000234	Abnormality of the head	8443	GNPAT	OMIM:222765
HP:0000234	Abnormality of the head	816	CAMK2B	OMIM:617799
HP:0000234	Abnormality of the head	283989	TSEN54	ORPHA:166063
HP:0000234	Abnormality of the head	2615	LRRC32	OMIM:619074
HP:0000234	Abnormality of the head	5311	PKD2	OMIM:613095
HP:0000234	Abnormality of the head	85301	COL27A1	OMIM:615155
HP:0000234	Abnormality of the head	4285	MIPEP	OMIM:617228
HP:0000234	Abnormality of the head	5354	PLP1	ORPHA:280229
HP:0000234	Abnormality of the head	51651	PTRH2	OMIM:616263
HP:0000234	Abnormality of the head	3658	IREB2	OMIM:618451
HP:0000234	Abnormality of the head	5308	PITX2	ORPHA:782
HP:0000234	Abnormality of the head	998	CDC42	OMIM:616737
HP:0000234	Abnormality of the head	998	CDC42	ORPHA:487796
HP:0000234	Abnormality of the head	23097	CDK19	OMIM:618916
HP:0000234	Abnormality of the head	63931	MRPS14	OMIM:618378
HP:0000234	Abnormality of the head	6304	SATB1	OMIM:619229
HP:0000234	Abnormality of the head	55180	LINS1	OMIM:614340
HP:0000234	Abnormality of the head	8936	WASF1	OMIM:618707
HP:0000234	Abnormality of the head	2893	GRIA4	OMIM:617864
HP:0000234	Abnormality of the head	22800	RRAS2	ORPHA:648
HP:0000234	Abnormality of the head	6237	RRAS	ORPHA:648
HP:0000234	Abnormality of the head	6655	SOS2	ORPHA:648
HP:0000234	Abnormality of the head	5922	RASA2	ORPHA:648
HP:0000234	Abnormality of the head	10844	TUBGCP2	OMIM:618737
HP:0000234	Abnormality of the head	56244	BTNL2	ORPHA:797
HP:0000234	Abnormality of the head	3123	HLA-DRB1	ORPHA:797
HP:0000234	Abnormality of the head	488	ATP2A2	OMIM:124200
HP:0000234	Abnormality of the head	26005	C2CD3	ORPHA:434179
HP:0000234	Abnormality of the head	26005	C2CD3	OMIM:615948
HP:0000234	Abnormality of the head	51057	WDPCP	OMIM:217085
HP:0000234	Abnormality of the head	51057	WDPCP	ORPHA:1338
HP:0000234	Abnormality of the head	30813	VSX1	OMIM:614195
HP:0000234	Abnormality of the head	7314	UBB	ORPHA:99771
HP:0000234	Abnormality of the head	57822	GRHL3	ORPHA:99771
HP:0000234	Abnormality of the head	246329	STAC3	ORPHA:168572
HP:0000234	Abnormality of the head	4750	NEK1	ORPHA:2751
HP:0000234	Abnormality of the head	6288	SAA1	ORPHA:85445
HP:0000234	Abnormality of the head	5083	PAX9	OMIM:604625
HP:0000234	Abnormality of the head	55605	KIF21A	OMIM:135700
HP:0000234	Abnormality of the head	9896	FIG4	ORPHA:3472
HP:0000234	Abnormality of the head	55697	VAC14	ORPHA:3472
HP:0000234	Abnormality of the head	25914	RTTN	ORPHA:468631
HP:0000234	Abnormality of the head	4617	MYF5	OMIM:618155
HP:0000234	Abnormality of the head	4148	MATN3	ORPHA:156728
HP:0000234	Abnormality of the head	4148	MATN3	OMIM:608728
HP:0000234	Abnormality of the head	8473	OGT	OMIM:300997
HP:0000234	Abnormality of the head	53616	ADAM22	OMIM:617933
HP:0000234	Abnormality of the head	7965	AIMP2	OMIM:618006
HP:0000234	Abnormality of the head	22872	SEC31A	OMIM:618651
HP:0000234	Abnormality of the head	4174	MCM5	OMIM:617564
HP:0000234	Abnormality of the head	2890	GRIA1	OMIM:619927
HP:0000234	Abnormality of the head	8911	CACNA1I	OMIM:620114
HP:0000234	Abnormality of the head	55367	PIDD1	OMIM:619827
HP:0000234	Abnormality of the head	7189	TRAF6	ORPHA:1810
HP:0000234	Abnormality of the head	51099	ABHD5	ORPHA:98907
HP:0000234	Abnormality of the head	59344	ALOXE3	OMIM:606545
HP:0000234	Abnormality of the head	204219	CERS3	OMIM:615023
HP:0000234	Abnormality of the head	26154	ABCA12	ORPHA:457
HP:0000234	Abnormality of the head	4040	LRP6	ORPHA:99798
HP:0000234	Abnormality of the head	7039	TGFA	ORPHA:99798
HP:0000234	Abnormality of the head	7051	TGM1	ORPHA:100976
HP:0000234	Abnormality of the head	9427	ECEL1	OMIM:615065
HP:0000234	Abnormality of the head	3508	IGHMBP2	OMIM:616155
HP:0000234	Abnormality of the head	10528	NOP56	OMIM:614153
HP:0000234	Abnormality of the head	10528	NOP56	ORPHA:276198
HP:0000234	Abnormality of the head	22880	MORC2	ORPHA:466768
HP:0000234	Abnormality of the head	10133	OPTN	OMIM:613435
HP:0000234	Abnormality of the head	51010	EXOSC3	OMIM:614678
HP:0000234	Abnormality of the head	23230	VPS13A	ORPHA:2388
HP:0000234	Abnormality of the head	23404	EXOSC2	OMIM:617763
HP:0000234	Abnormality of the head	23040	MYT1L	OMIM:616521
HP:0000234	Abnormality of the head	29081	METTL5	OMIM:618665
HP:0000234	Abnormality of the head	999	CDH1	OMIM:119580
HP:0000234	Abnormality of the head	999	CDH1	ORPHA:1997
HP:0000234	Abnormality of the head	1500	CTNND1	OMIM:617681
HP:0000234	Abnormality of the head	1500	CTNND1	ORPHA:1997
HP:0000234	Abnormality of the head	1528	CYB5A	ORPHA:621
HP:0000234	Abnormality of the head	1727	CYB5R3	ORPHA:621
HP:0000234	Abnormality of the head	2202	EFEMP1	ORPHA:98977
HP:0000234	Abnormality of the head	1545	CYP1B1	ORPHA:98977
HP:0000234	Abnormality of the head	4653	MYOC	ORPHA:98977
HP:0000234	Abnormality of the head	3490	IGFBP7	OMIM:614224
HP:0000234	Abnormality of the head	55770	EXOC2	OMIM:619306
HP:0000234	Abnormality of the head	6711	SPTBN1	OMIM:619475
HP:0000234	Abnormality of the head	668	FOXL2	ORPHA:572333
HP:0000234	Abnormality of the head	1180	CLCN1	OMIM:160800
HP:0000234	Abnormality of the head	1180	CLCN1	OMIM:255700
HP:0000234	Abnormality of the head	55679	LIMS2	OMIM:616827
HP:0000234	Abnormality of the head	8029	CUBN	ORPHA:35858
HP:0000234	Abnormality of the head	81693	AMN	ORPHA:35858
HP:0000234	Abnormality of the head	1825	DSC3	OMIM:613102
HP:0000234	Abnormality of the head	3872	KRT17	OMIM:167210
HP:0000234	Abnormality of the head	3872	KRT17	ORPHA:2309
HP:0000234	Abnormality of the head	831	CAST	OMIM:616295
HP:0000234	Abnormality of the head	3868	KRT16	ORPHA:2309
HP:0000234	Abnormality of the head	3853	KRT6A	ORPHA:2309
HP:0000234	Abnormality of the head	3854	KRT6B	ORPHA:2309
HP:0000234	Abnormality of the head	6720	SREBF1	OMIM:619016
HP:0000234	Abnormality of the head	57190	SELENON	ORPHA:324604
HP:0000234	Abnormality of the head	57190	SELENON	ORPHA:2020
HP:0000234	Abnormality of the head	4625	MYH7	ORPHA:324604
HP:0000234	Abnormality of the head	353116	RILPL1	OMIM:619790
HP:0000234	Abnormality of the head	55791	LRIF1	OMIM:619477
HP:0000234	Abnormality of the head	10755	GIPC1	OMIM:618940
HP:0000234	Abnormality of the head	10755	GIPC1	ORPHA:98897
HP:0000234	Abnormality of the head	4574	MT-TS1	OMIM:220110
HP:0000234	Abnormality of the head	4570	MT-TN	OMIM:220110
HP:0000234	Abnormality of the head	6834	SURF1	OMIM:220110
HP:0000234	Abnormality of the head	100996717	NOTCH2NLC	OMIM:619473
HP:0000234	Abnormality of the head	100996717	NOTCH2NLC	ORPHA:98897
HP:0000234	Abnormality of the head	35	ACADS	OMIM:201470
HP:0000234	Abnormality of the head	50484	RRM2B	ORPHA:329336
HP:0000234	Abnormality of the head	246243	RNASEH1	ORPHA:329336
HP:0000234	Abnormality of the head	1145	CHRNE	OMIM:616324
HP:0000234	Abnormality of the head	57863	CADM3	OMIM:619519
HP:0000234	Abnormality of the head	2318	FLNC	ORPHA:63273
HP:0000234	Abnormality of the head	400916	CHCHD10	ORPHA:457050
HP:0000234	Abnormality of the head	9289	ADGRG1	ORPHA:98889
HP:0000234	Abnormality of the head	27286	SRPX2	ORPHA:98889
HP:0000234	Abnormality of the head	4703	NEB	OMIM:256030
HP:0000234	Abnormality of the head	4703	NEB	ORPHA:399103
HP:0000234	Abnormality of the head	92667	MGME1	ORPHA:352447
HP:0000234	Abnormality of the head	1303	COL12A1	ORPHA:536516
HP:0000234	Abnormality of the head	7555	CNBP	OMIM:602668
HP:0000234	Abnormality of the head	3714	JAG2	OMIM:619566
HP:0000234	Abnormality of the head	101060691	NUTM2B-AS1	OMIM:618637
HP:0000234	Abnormality of the head	9200	HACD1	OMIM:619967
HP:0000234	Abnormality of the head	9200	HACD1	ORPHA:2020
HP:0000234	Abnormality of the head	7125	TNNC2	OMIM:620161
HP:0000234	Abnormality of the head	10059	DNM1L	ORPHA:98673
HP:0000234	Abnormality of the head	4976	OPA1	ORPHA:98673
HP:0000234	Abnormality of the head	122622	ADSS1	OMIM:617030
HP:0000234	Abnormality of the head	122622	ADSS1	ORPHA:482601
HP:0000234	Abnormality of the head	1621	DBH	OMIM:223360
HP:0000234	Abnormality of the head	64207	IRF2BPL	OMIM:618088
HP:0000234	Abnormality of the head	23345	SYNE1	OMIM:618484
HP:0000234	Abnormality of the head	1674	DES	ORPHA:98909
HP:0000234	Abnormality of the head	1674	DES	OMIM:181400
HP:0000234	Abnormality of the head	311	ANXA11	OMIM:619733
HP:0000234	Abnormality of the head	1073	CFL2	OMIM:610687
HP:0000234	Abnormality of the head	81846	SBF2	ORPHA:99956
HP:0000234	Abnormality of the head	4556	MT-TE	ORPHA:2596
HP:0000234	Abnormality of the head	1339	COX6A2	OMIM:619062
HP:0000234	Abnormality of the head	56652	TWNK	OMIM:607459
HP:0000234	Abnormality of the head	4633	MYL2	ORPHA:2020
HP:0000234	Abnormality of the head	3679	ITGA7	ORPHA:2020
HP:0000234	Abnormality of the head	7170	TPM3	ORPHA:2020
HP:0000234	Abnormality of the head	51776	MAP3K20	ORPHA:2020
HP:0000234	Abnormality of the head	11277	TREX1	ORPHA:247691
HP:0000234	Abnormality of the head	88	ACTN2	OMIM:618654
HP:0000234	Abnormality of the head	54332	GDAP1	ORPHA:99948
HP:0000234	Abnormality of the head	79628	SH3TC2	ORPHA:99949
HP:0000234	Abnormality of the head	4632	MYL1	OMIM:618414
HP:0000234	Abnormality of the head	89874	SLC25A21	OMIM:618811
HP:0000234	Abnormality of the head	79731	NARS2	OMIM:616239
HP:0000234	Abnormality of the head	284439	SLC25A42	OMIM:618416
HP:0000234	Abnormality of the head	55154	MSTO1	ORPHA:502423
HP:0000234	Abnormality of the head	4747	NEFL	ORPHA:101085
HP:0000234	Abnormality of the head	285489	DOK7	OMIM:254300
HP:0000234	Abnormality of the head	3321	IGSF3	OMIM:149700
HP:0000234	Abnormality of the head	23137	SMC5	OMIM:620185
HP:0000234	Abnormality of the head	7390	UROS	OMIM:263700
HP:0000234	Abnormality of the head	7390	UROS	ORPHA:79277
HP:0000234	Abnormality of the head	2623	GATA1	ORPHA:79277
HP:0000234	Abnormality of the head	7389	UROD	ORPHA:95159
HP:0000234	Abnormality of the head	4914	NTRK1	ORPHA:642
HP:0000234	Abnormality of the head	5251	PHEX	ORPHA:89936
HP:0000234	Abnormality of the head	8074	FGF23	ORPHA:89937
HP:0000234	Abnormality of the head	1758	DMP1	ORPHA:289176
HP:0000234	Abnormality of the head	5167	ENPP1	ORPHA:289176
HP:0000234	Abnormality of the head	1991	ELANE	ORPHA:2686
HP:0000234	Abnormality of the head	1747	DLX3	ORPHA:3352
HP:0000234	Abnormality of the head	1272	CNTN1	OMIM:612540
HP:0000234	Abnormality of the head	55681	SCYL2	ORPHA:1143
HP:0000234	Abnormality of the head	57222	ERGIC1	ORPHA:1143
HP:0000234	Abnormality of the head	55553	SOX6	OMIM:618971
HP:0000234	Abnormality of the head	91179	SCARF2	OMIM:600920
HP:0000234	Abnormality of the head	10293	TRAIP	OMIM:616777
HP:0000234	Abnormality of the head	55753	OGDHL	OMIM:619701
HP:0000234	Abnormality of the head	3762	KCNJ5	ORPHA:37553
HP:0000234	Abnormality of the head	3759	KCNJ2	ORPHA:37553
HP:0000234	Abnormality of the head	28234	SLCO1B3	ORPHA:3111
HP:0000234	Abnormality of the head	10599	SLCO1B1	ORPHA:3111
HP:0000234	Abnormality of the head	59067	IL21	OMIM:615767
HP:0000234	Abnormality of the head	8496	PPFIBP1	OMIM:620024
HP:0000234	Abnormality of the head	2214	FCGR3A	OMIM:615707
HP:0000234	Abnormality of the head	340061	STING1	OMIM:615934
HP:0000234	Abnormality of the head	9313	MMP20	OMIM:612529
HP:0000234	Abnormality of the head	80199	FUZ	ORPHA:1136
HP:0000234	Abnormality of the head	129685	TAF8	OMIM:619972
HP:0000234	Abnormality of the head	6658	SOX3	ORPHA:67045
HP:0000234	Abnormality of the head	8738	CRADD	OMIM:614499
HP:0000234	Abnormality of the head	644096	SDHAF1	ORPHA:3208
HP:0000234	Abnormality of the head	26137	ZBTB20	OMIM:259050
HP:0000234	Abnormality of the head	2316	FLNA	OMIM:300048
HP:0000234	Abnormality of the head	7512	XPNPEP2	ORPHA:100057
HP:0000234	Abnormality of the head	710	SERPING1	ORPHA:100050
HP:0000234	Abnormality of the head	5896	RAG1	OMIM:601457
HP:0000234	Abnormality of the head	5897	RAG2	OMIM:601457
HP:0000234	Abnormality of the head	55714	TENM3	OMIM:615145
HP:0000234	Abnormality of the head	23175	LPIN1	ORPHA:99845
HP:0000234	Abnormality of the head	4512	MT-CO1	ORPHA:99845
HP:0000234	Abnormality of the head	7341	SUMO1	OMIM:613705
HP:0000234	Abnormality of the head	55969	RAB5IF	OMIM:616994
HP:0000234	Abnormality of the head	23149	FCHO1	OMIM:619164
HP:0000234	Abnormality of the head	51371	POMP	OMIM:618048
HP:0000234	Abnormality of the head	5692	PSMB4	OMIM:617591
HP:0000234	Abnormality of the head	5698	PSMB9	OMIM:617591
HP:0000234	Abnormality of the head	3115	HLA-DPB1	ORPHA:900
HP:0000234	Abnormality of the head	5657	PRTN3	ORPHA:900
HP:0000234	Abnormality of the head	3113	HLA-DPA1	ORPHA:900
HP:0000234	Abnormality of the head	4615	MYD88	ORPHA:33226
HP:0000234	Abnormality of the head	4868	NPHS1	ORPHA:656
HP:0000234	Abnormality of the head	23607	CD2AP	ORPHA:656
HP:0000234	Abnormality of the head	9688	NUP93	ORPHA:656
HP:0000234	Abnormality of the head	4643	MYO1E	ORPHA:656
HP:0000234	Abnormality of the head	64423	INF2	ORPHA:656
HP:0000234	Abnormality of the head	26130	GAPVD1	ORPHA:656
HP:0000234	Abnormality of the head	57122	NUP107	ORPHA:656
HP:0000234	Abnormality of the head	51479	ANKFY1	ORPHA:656
HP:0000234	Abnormality of the head	54443	ANLN	ORPHA:656
HP:0000234	Abnormality of the head	5800	PTPRO	ORPHA:656
HP:0000234	Abnormality of the head	286204	CRB2	ORPHA:656
HP:0000234	Abnormality of the head	23165	NUP205	ORPHA:656
HP:0000234	Abnormality of the head	2013	EMP2	ORPHA:656
HP:0000234	Abnormality of the head	79023	NUP37	ORPHA:656
HP:0000234	Abnormality of the head	51196	PLCE1	ORPHA:656
HP:0000234	Abnormality of the head	1285	COL4A3	ORPHA:656
HP:0000234	Abnormality of the head	396	ARHGDIA	ORPHA:656
HP:0000234	Abnormality of the head	79934	COQ8B	ORPHA:656
HP:0000234	Abnormality of the head	23279	NUP160	ORPHA:656
HP:0000234	Abnormality of the head	9863	MAGI2	ORPHA:656
HP:0000234	Abnormality of the head	81	ACTN4	ORPHA:656
HP:0000234	Abnormality of the head	7225	TRPC6	ORPHA:656
HP:0000234	Abnormality of the head	8542	APOL1	ORPHA:656
HP:0000234	Abnormality of the head	54885	TBC1D8B	ORPHA:656
HP:0000234	Abnormality of the head	7827	NPHS2	ORPHA:656
HP:0000234	Abnormality of the head	83478	ARHGAP24	ORPHA:656
HP:0000234	Abnormality of the head	23500	DAAM2	ORPHA:656
HP:0000234	Abnormality of the head	55746	NUP133	ORPHA:656
HP:0000234	Abnormality of the head	7045	TGFBI	OMIM:608470
HP:0000234	Abnormality of the head	2947	GSTM3	ORPHA:586
HP:0000234	Abnormality of the head	2729	GCLC	ORPHA:586
HP:0000234	Abnormality of the head	1084	CEACAM3	ORPHA:586
HP:0000234	Abnormality of the head	6556	SLC11A1	ORPHA:586
HP:0000234	Abnormality of the head	51164	DCTN4	ORPHA:586
HP:0000234	Abnormality of the head	3783	KCNN4	ORPHA:586
HP:0000234	Abnormality of the head	4282	MIF	ORPHA:586
HP:0000234	Abnormality of the head	6550	SLC9A3	ORPHA:586
HP:0000234	Abnormality of the head	3162	HMOX1	ORPHA:586
HP:0000234	Abnormality of the head	115019	SLC26A9	ORPHA:586
HP:0000234	Abnormality of the head	3077	HFE	ORPHA:586
HP:0000234	Abnormality of the head	11254	SLC6A14	ORPHA:586
HP:0000234	Abnormality of the head	5265	SERPINA1	ORPHA:586
HP:0000234	Abnormality of the head	1080	CFTR	ORPHA:586
HP:0000234	Abnormality of the head	1080	CFTR	OMIM:219700
HP:0000234	Abnormality of the head	22802	CLCA4	ORPHA:586
HP:0000234	Abnormality of the head	4680	CEACAM6	ORPHA:586
HP:0000234	Abnormality of the head	2212	FCGR2A	OMIM:219700
HP:0000234	Abnormality of the head	30009	TBX21	OMIM:208550
HP:0000234	Abnormality of the head	5732	PTGER2	OMIM:208550
HP:0000234	Abnormality of the head	6794	STK11	ORPHA:2869
HP:0000234	Abnormality of the head	6794	STK11	OMIM:175200
HP:0000234	Abnormality of the head	6890	TAP1	OMIM:604571
HP:0000234	Abnormality of the head	6891	TAP2	OMIM:604571
HP:0000234	Abnormality of the head	6892	TAPBP	OMIM:604571
HP:0000234	Abnormality of the head	9094	UNC119	OMIM:615518
HP:0000234	Abnormality of the head	85452	CFAP74	OMIM:620197
HP:0000234	Abnormality of the head	4486	MST1R	OMIM:617075
HP:0000234	Abnormality of the head	4609	MYC	ORPHA:543
HP:0000234	Abnormality of the head	50940	PDE11A	ORPHA:1359
HP:0000234	Abnormality of the head	8974	P4HA2	ORPHA:397
HP:0000234	Abnormality of the head	4791	NFKB2	ORPHA:293978
HP:0000234	Abnormality of the head	7132	TNFRSF1A	ORPHA:32960
HP:0000234	Abnormality of the head	331	XIAP	OMIM:308240
HP:0000234	Abnormality of the head	4068	SH2D1A	OMIM:308240
HP:0000234	Abnormality of the head	3858	KRT10	ORPHA:312
HP:0000234	Abnormality of the head	3848	KRT1	ORPHA:312
HP:0000234	Abnormality of the head	4143	MAT1A	OMIM:250850
HP:0000234	Abnormality of the head	8991	SELENBP1	OMIM:618148
HP:0000234	Abnormality of the head	3655	ITGA6	OMIM:619817
HP:0000234	Abnormality of the head	3655	ITGA6	ORPHA:79403
HP:0000234	Abnormality of the head	3909	LAMA3	ORPHA:79402
HP:0000234	Abnormality of the head	3909	LAMA3	OMIM:619784
HP:0000234	Abnormality of the head	3909	LAMA3	OMIM:619783
HP:0000234	Abnormality of the head	3918	LAMC2	ORPHA:79402
HP:0000234	Abnormality of the head	3918	LAMC2	OMIM:619785
HP:0000234	Abnormality of the head	3918	LAMC2	OMIM:619786
HP:0000234	Abnormality of the head	1830	DSG3	OMIM:619226
HP:0000234	Abnormality of the head	79574	EPS8L3	ORPHA:444
HP:0000234	Abnormality of the head	6144	RPL21	OMIM:615885
HP:0000234	Abnormality of the head	6635	SNRPE	OMIM:615059
HP:0000234	Abnormality of the head	8239	USP9X	ORPHA:480880
HP:0000234	Abnormality of the head	57379	AICDA	OMIM:605258
HP:0000234	Abnormality of the head	64421	DCLRE1C	ORPHA:275
HP:0000234	Abnormality of the head	7374	UNG	OMIM:608106
HP:0000234	Abnormality of the head	6340	SCNN1G	ORPHA:171876
HP:0000234	Abnormality of the head	6337	SCNN1A	ORPHA:171876
HP:0000234	Abnormality of the head	6338	SCNN1B	ORPHA:171876
HP:0000234	Abnormality of the head	29969	MDFIC	OMIM:620014
HP:0000234	Abnormality of the head	7535	ZAP70	ORPHA:911
HP:0000234	Abnormality of the head	1739	DLG1	ORPHA:199306
HP:0000234	Abnormality of the head	5156	PDGFRA	ORPHA:199306
HP:0000234	Abnormality of the head	9411	ARHGAP29	ORPHA:199306
HP:0000234	Abnormality of the head	4593	MUSK	ORPHA:98913
HP:0000234	Abnormality of the head	221264	AK9	ORPHA:98913
HP:0000234	Abnormality of the head	6310	ATXN1	ORPHA:98755
HP:0000234	Abnormality of the head	79759	ZNF668	OMIM:620194
HP:0000234	Abnormality of the head	55084	SOBP	OMIM:613671
HP:0000234	Abnormality of the head	79798	ARMC5	ORPHA:189427
HP:0000234	Abnormality of the head	8622	PDE8B	ORPHA:189439
HP:0000234	Abnormality of the head	779	CACNA1S	ORPHA:423
HP:0000234	Abnormality of the head	26119	LDLRAP1	ORPHA:391665
HP:0000234	Abnormality of the head	64240	ABCG5	ORPHA:391665
HP:0000235	Abnormality of the fontanelles or cranial sutures	9897	WASHC5	ORPHA:7
HP:0000235	Abnormality of the fontanelles or cranial sutures	23114	NFASC	OMIM:618356
HP:0000235	Abnormality of the fontanelles or cranial sutures	57061	HYMAI	ORPHA:96191
HP:0000235	Abnormality of the fontanelles or cranial sutures	5325	PLAGL1	ORPHA:96191
HP:0000235	Abnormality of the fontanelles or cranial sutures	4998	ORC1	OMIM:224690
HP:0000235	Abnormality of the fontanelles or cranial sutures	545	ATR	OMIM:210600
HP:0000235	Abnormality of the fontanelles or cranial sutures	100151683	RNU4ATAC	OMIM:210710
HP:0000235	Abnormality of the fontanelles or cranial sutures	4613	MYCN	OMIM:164280
HP:0000235	Abnormality of the fontanelles or cranial sutures	7407	VARS1	OMIM:617802
HP:0000235	Abnormality of the fontanelles or cranial sutures	60386	SLC25A19	OMIM:607196
HP:0000235	Abnormality of the fontanelles or cranial sutures	9791	PTDSS1	OMIM:151050
HP:0000235	Abnormality of the fontanelles or cranial sutures	9791	PTDSS1	ORPHA:2658
HP:0000235	Abnormality of the fontanelles or cranial sutures	538	ATP7A	ORPHA:198
HP:0000235	Abnormality of the fontanelles or cranial sutures	3975	LHX1	ORPHA:261265
HP:0000235	Abnormality of the fontanelles or cranial sutures	6928	HNF1B	ORPHA:261265
HP:0000235	Abnormality of the fontanelles or cranial sutures	1182	CLCN3	OMIM:619512
HP:0000235	Abnormality of the fontanelles or cranial sutures	4598	MVK	ORPHA:29
HP:0000235	Abnormality of the fontanelles or cranial sutures	4598	MVK	OMIM:610377
HP:0000235	Abnormality of the fontanelles or cranial sutures	6711	SPTBN1	OMIM:619475
HP:0000235	Abnormality of the fontanelles or cranial sutures	8425	LTBP4	OMIM:613177
HP:0000235	Abnormality of the fontanelles or cranial sutures	3248	HPGD	OMIM:259100
HP:0000235	Abnormality of the fontanelles or cranial sutures	3248	HPGD	ORPHA:1525
HP:0000235	Abnormality of the fontanelles or cranial sutures	113189	CHST14	OMIM:601776
HP:0000235	Abnormality of the fontanelles or cranial sutures	113189	CHST14	ORPHA:2953
HP:0000235	Abnormality of the fontanelles or cranial sutures	3636	INPPL1	OMIM:258480
HP:0000235	Abnormality of the fontanelles or cranial sutures	3636	INPPL1	ORPHA:2746
HP:0000235	Abnormality of the fontanelles or cranial sutures	8443	GNPAT	OMIM:222765
HP:0000235	Abnormality of the fontanelles or cranial sutures	4094	MAF	ORPHA:1272
HP:0000235	Abnormality of the fontanelles or cranial sutures	80816	ASXL3	OMIM:615485
HP:0000235	Abnormality of the fontanelles or cranial sutures	58	ACTA1	ORPHA:171430
HP:0000235	Abnormality of the fontanelles or cranial sutures	4703	NEB	ORPHA:171430
HP:0000235	Abnormality of the fontanelles or cranial sutures	4703	NEB	OMIM:619334
HP:0000235	Abnormality of the fontanelles or cranial sutures	131377	KLHL40	ORPHA:171430
HP:0000235	Abnormality of the fontanelles or cranial sutures	10324	KLHL41	ORPHA:171430
HP:0000235	Abnormality of the fontanelles or cranial sutures	56203	LMOD3	ORPHA:171430
HP:0000235	Abnormality of the fontanelles or cranial sutures	5831	PYCR1	OMIM:614438
HP:0000235	Abnormality of the fontanelles or cranial sutures	5831	PYCR1	OMIM:612940
HP:0000235	Abnormality of the fontanelles or cranial sutures	23729	SHPK	ORPHA:440713
HP:0000235	Abnormality of the fontanelles or cranial sutures	5832	ALDH18A1	OMIM:219150
HP:0000235	Abnormality of the fontanelles or cranial sutures	4000	LMNA	ORPHA:90153
HP:0000235	Abnormality of the fontanelles or cranial sutures	10651	MTX2	ORPHA:90153
HP:0000235	Abnormality of the fontanelles or cranial sutures	56975	FAM20C	ORPHA:1832
HP:0000235	Abnormality of the fontanelles or cranial sutures	56975	FAM20C	OMIM:259775
HP:0000235	Abnormality of the fontanelles or cranial sutures	7849	PAX8	ORPHA:95720
HP:0000235	Abnormality of the fontanelles or cranial sutures	7849	PAX8	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	7849	PAX8	ORPHA:95712
HP:0000235	Abnormality of the fontanelles or cranial sutures	7253	TSHR	ORPHA:95720
HP:0000235	Abnormality of the fontanelles or cranial sutures	7253	TSHR	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	5172	SLC26A4	ORPHA:95720
HP:0000235	Abnormality of the fontanelles or cranial sutures	5172	SLC26A4	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	8241	RBM10	ORPHA:2886
HP:0000235	Abnormality of the fontanelles or cranial sutures	8241	RBM10	OMIM:311900
HP:0000235	Abnormality of the fontanelles or cranial sutures	1028	CDKN1C	OMIM:130650
HP:0000235	Abnormality of the fontanelles or cranial sutures	10984	KCNQ1OT1	OMIM:130650
HP:0000235	Abnormality of the fontanelles or cranial sutures	3784	KCNQ1	OMIM:130650
HP:0000235	Abnormality of the fontanelles or cranial sutures	29940	DSE	ORPHA:2953
HP:0000235	Abnormality of the fontanelles or cranial sutures	7874	USP7	OMIM:616863
HP:0000235	Abnormality of the fontanelles or cranial sutures	7080	NKX2-1	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	1482	NKX2-5	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	1482	NKX2-5	ORPHA:95712
HP:0000235	Abnormality of the fontanelles or cranial sutures	2304	FOXE1	ORPHA:95713
HP:0000235	Abnormality of the fontanelles or cranial sutures	3295	HSD17B4	OMIM:261515
HP:0000235	Abnormality of the fontanelles or cranial sutures	57688	ZSWIM6	ORPHA:1827
HP:0000235	Abnormality of the fontanelles or cranial sutures	71	ACTG1	ORPHA:2995
HP:0000235	Abnormality of the fontanelles or cranial sutures	60	ACTB	ORPHA:2995
HP:0000235	Abnormality of the fontanelles or cranial sutures	3239	HOXD13	ORPHA:887
HP:0000235	Abnormality of the fontanelles or cranial sutures	9896	FIG4	OMIM:216340
HP:0000235	Abnormality of the fontanelles or cranial sutures	857	CAV1	OMIM:606721
HP:0000235	Abnormality of the fontanelles or cranial sutures	27031	NPHP3	OMIM:267010
HP:0000235	Abnormality of the fontanelles or cranial sutures	860	RUNX2	OMIM:119600
HP:0000235	Abnormality of the fontanelles or cranial sutures	860	RUNX2	ORPHA:1452
HP:0000235	Abnormality of the fontanelles or cranial sutures	5277	PIGA	OMIM:300868
HP:0000235	Abnormality of the fontanelles or cranial sutures	51025	PAM16	OMIM:613320
HP:0000235	Abnormality of the fontanelles or cranial sutures	79053	ALG8	OMIM:608104
HP:0000235	Abnormality of the fontanelles or cranial sutures	56052	ALG1	OMIM:608540
HP:0000235	Abnormality of the fontanelles or cranial sutures	2697	GJA1	OMIM:257850
HP:0000235	Abnormality of the fontanelles or cranial sutures	168667	BMPER	OMIM:608022
HP:0000235	Abnormality of the fontanelles or cranial sutures	10682	EBP	ORPHA:401973
HP:0000235	Abnormality of the fontanelles or cranial sutures	4921	DDR2	OMIM:271665
HP:0000235	Abnormality of the fontanelles or cranial sutures	9526	MPDU1	OMIM:609180
HP:0000235	Abnormality of the fontanelles or cranial sutures	9526	MPDU1	ORPHA:79323
HP:0000235	Abnormality of the fontanelles or cranial sutures	1278	COL1A2	OMIM:259420
HP:0000235	Abnormality of the fontanelles or cranial sutures	2737	GLI3	ORPHA:36
HP:0000235	Abnormality of the fontanelles or cranial sutures	374654	KIF7	ORPHA:36
HP:0000235	Abnormality of the fontanelles or cranial sutures	374654	KIF7	OMIM:200990
HP:0000235	Abnormality of the fontanelles or cranial sutures	4281	MID1	OMIM:300000
HP:0000235	Abnormality of the fontanelles or cranial sutures	4920	ROR2	OMIM:113000
HP:0000235	Abnormality of the fontanelles or cranial sutures	4920	ROR2	OMIM:268310
HP:0000235	Abnormality of the fontanelles or cranial sutures	169792	GLIS3	OMIM:610199
HP:0000235	Abnormality of the fontanelles or cranial sutures	6662	SOX9	OMIM:114290
HP:0000235	Abnormality of the fontanelles or cranial sutures	5189	PEX1	OMIM:214100
HP:0000235	Abnormality of the fontanelles or cranial sutures	5189	PEX1	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5189	PEX1	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	29957	SLC25A24	ORPHA:2963
HP:0000235	Abnormality of the fontanelles or cranial sutures	29957	SLC25A24	OMIM:612289
HP:0000235	Abnormality of the fontanelles or cranial sutures	64175	P3H1	OMIM:610915
HP:0000235	Abnormality of the fontanelles or cranial sutures	170302	ARX	OMIM:300215
HP:0000235	Abnormality of the fontanelles or cranial sutures	25915	NDUFAF3	OMIM:618240
HP:0000235	Abnormality of the fontanelles or cranial sutures	8260	NAA10	OMIM:300855
HP:0000235	Abnormality of the fontanelles or cranial sutures	2261	FGFR3	ORPHA:1860
HP:0000235	Abnormality of the fontanelles or cranial sutures	2261	FGFR3	ORPHA:15
HP:0000235	Abnormality of the fontanelles or cranial sutures	2261	FGFR3	OMIM:616482
HP:0000235	Abnormality of the fontanelles or cranial sutures	1147	CHUK	OMIM:619339
HP:0000235	Abnormality of the fontanelles or cranial sutures	1009	CDH11	OMIM:619736
HP:0000235	Abnormality of the fontanelles or cranial sutures	7490	WT1	OMIM:194080
HP:0000235	Abnormality of the fontanelles or cranial sutures	9377	COX5A	OMIM:619064
HP:0000235	Abnormality of the fontanelles or cranial sutures	7703	PCGF2	OMIM:618371
HP:0000235	Abnormality of the fontanelles or cranial sutures	79796	ALG9	OMIM:263210
HP:0000235	Abnormality of the fontanelles or cranial sutures	79796	ALG9	ORPHA:79328
HP:0000235	Abnormality of the fontanelles or cranial sutures	2475	MTOR	OMIM:616638
HP:0000235	Abnormality of the fontanelles or cranial sutures	79633	FAT4	OMIM:615546
HP:0000235	Abnormality of the fontanelles or cranial sutures	4036	LRP2	ORPHA:2143
HP:0000235	Abnormality of the fontanelles or cranial sutures	4036	LRP2	OMIM:222448
HP:0000235	Abnormality of the fontanelles or cranial sutures	1302	COL11A2	ORPHA:2021
HP:0000235	Abnormality of the fontanelles or cranial sutures	8642	DCHS1	OMIM:601390
HP:0000235	Abnormality of the fontanelles or cranial sutures	5193	PEX12	OMIM:614859
HP:0000235	Abnormality of the fontanelles or cranial sutures	5193	PEX12	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5193	PEX12	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	3265	HRAS	OMIM:218040
HP:0000235	Abnormality of the fontanelles or cranial sutures	26040	SETBP1	ORPHA:798
HP:0000235	Abnormality of the fontanelles or cranial sutures	3981	LIG4	ORPHA:235
HP:0000235	Abnormality of the fontanelles or cranial sutures	54888	NSUN2	ORPHA:235
HP:0000235	Abnormality of the fontanelles or cranial sutures	145173	B3GLCT	OMIM:261540
HP:0000235	Abnormality of the fontanelles or cranial sutures	56006	SMG9	OMIM:616920
HP:0000235	Abnormality of the fontanelles or cranial sutures	1387	CREBBP	OMIM:180849
HP:0000235	Abnormality of the fontanelles or cranial sutures	2033	EP300	OMIM:180849
HP:0000235	Abnormality of the fontanelles or cranial sutures	5828	PEX2	OMIM:614866
HP:0000235	Abnormality of the fontanelles or cranial sutures	5828	PEX2	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5828	PEX2	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	9091	PIGQ	OMIM:618548
HP:0000235	Abnormality of the fontanelles or cranial sutures	25839	COG4	OMIM:618150
HP:0000235	Abnormality of the fontanelles or cranial sutures	23405	DICER1	OMIM:618272
HP:0000235	Abnormality of the fontanelles or cranial sutures	285590	SH3PXD2B	OMIM:249420
HP:0000235	Abnormality of the fontanelles or cranial sutures	8318	CDC45	OMIM:617063
HP:0000235	Abnormality of the fontanelles or cranial sutures	28952	CCDC22	OMIM:300963
HP:0000235	Abnormality of the fontanelles or cranial sutures	55670	PEX26	OMIM:614872
HP:0000235	Abnormality of the fontanelles or cranial sutures	55670	PEX26	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	55670	PEX26	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	388015	RTL1	ORPHA:96334
HP:0000235	Abnormality of the fontanelles or cranial sutures	8788	DLK1	ORPHA:96334
HP:0000235	Abnormality of the fontanelles or cranial sutures	55384	MEG3	ORPHA:96334
HP:0000235	Abnormality of the fontanelles or cranial sutures	63895	PIEZO2	OMIM:248700
HP:0000235	Abnormality of the fontanelles or cranial sutures	6497	SKI	OMIM:182212
HP:0000235	Abnormality of the fontanelles or cranial sutures	8504	PEX3	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	8504	PEX3	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	9409	PEX16	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	9409	PEX16	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	5190	PEX6	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5190	PEX6	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	8799	PEX11B	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	8799	PEX11B	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	5830	PEX5	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5830	PEX5	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	5194	PEX13	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5194	PEX13	OMIM:614883
HP:0000235	Abnormality of the fontanelles or cranial sutures	5194	PEX13	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	5192	PEX10	ORPHA:44
HP:0000235	Abnormality of the fontanelles or cranial sutures	5192	PEX10	ORPHA:912
HP:0000235	Abnormality of the fontanelles or cranial sutures	57020	VPS35L	OMIM:619135
HP:0000235	Abnormality of the fontanelles or cranial sutures	5528	PPP2R5D	ORPHA:457279
HP:0000235	Abnormality of the fontanelles or cranial sutures	10661	KLF1	OMIM:613673
HP:0000235	Abnormality of the fontanelles or cranial sutures	10491	CRTAP	OMIM:610682
HP:0000235	Abnormality of the fontanelles or cranial sutures	4052	LTBP1	ORPHA:90349
HP:0000235	Abnormality of the fontanelles or cranial sutures	30008	EFEMP2	ORPHA:90349
HP:0000235	Abnormality of the fontanelles or cranial sutures	10516	FBLN5	ORPHA:90349
HP:0000235	Abnormality of the fontanelles or cranial sutures	10269	ZMPSTE24	OMIM:275210
HP:0000235	Abnormality of the fontanelles or cranial sutures	7474	WNT5A	OMIM:180700
HP:0000235	Abnormality of the fontanelles or cranial sutures	1855	DVL1	OMIM:180700
HP:0000235	Abnormality of the fontanelles or cranial sutures	56160	NSMCE3	OMIM:617241
HP:0000235	Abnormality of the fontanelles or cranial sutures	9742	IFT140	OMIM:266920
HP:0000235	Abnormality of the fontanelles or cranial sutures	10736	SIX2	ORPHA:488437
HP:0000235	Abnormality of the fontanelles or cranial sutures	25871	NEPRO	OMIM:618853
HP:0000235	Abnormality of the fontanelles or cranial sutures	27152	INTU	OMIM:617925
HP:0000235	Abnormality of the fontanelles or cranial sutures	7252	TSHB	OMIM:275100
HP:0000235	Abnormality of the fontanelles or cranial sutures	6888	TALDO1	OMIM:606003
HP:0000235	Abnormality of the fontanelles or cranial sutures	2108	ETFA	OMIM:231680
HP:0000235	Abnormality of the fontanelles or cranial sutures	2109	ETFB	OMIM:231680
HP:0000235	Abnormality of the fontanelles or cranial sutures	2110	ETFDH	OMIM:231680
HP:0000235	Abnormality of the fontanelles or cranial sutures	865	CBFB	OMIM:620099
HP:0000235	Abnormality of the fontanelles or cranial sutures	5626	PROP1	ORPHA:226307
HP:0000235	Abnormality of the fontanelles or cranial sutures	89884	LHX4	ORPHA:226307
HP:0000235	Abnormality of the fontanelles or cranial sutures	8022	LHX3	ORPHA:226307
HP:0000235	Abnormality of the fontanelles or cranial sutures	5449	POU1F1	ORPHA:226307
HP:0000235	Abnormality of the fontanelles or cranial sutures	5449	POU1F1	OMIM:613038
HP:0000235	Abnormality of the fontanelles or cranial sutures	8820	HESX1	ORPHA:226307
HP:0000235	Abnormality of the fontanelles or cranial sutures	5590	PRKCZ	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	2563	GABRD	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	23013	SPEN	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	8510	MMP23B	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	7798	LUZP1	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	10630	PDPN	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	3339	HSPG2	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	10277	UBE4B	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	8514	KCNAB2	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	473	RERE	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	63976	PRDM16	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	54897	CASZ1	ORPHA:1606
HP:0000235	Abnormality of the fontanelles or cranial sutures	5159	PDGFRB	OMIM:601812
HP:0000235	Abnormality of the fontanelles or cranial sutures	54941	RNF125	OMIM:616260
HP:0000235	Abnormality of the fontanelles or cranial sutures	405753	DUOXA2	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	6528	SLC5A5	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	7038	TG	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	7173	TPO	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	389434	IYD	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	50506	DUOX2	ORPHA:95716
HP:0000235	Abnormality of the fontanelles or cranial sutures	2006	ELN	ORPHA:90348
HP:0000235	Abnormality of the fontanelles or cranial sutures	6223	RPS19	OMIM:105650
HP:0000235	Abnormality of the fontanelles or cranial sutures	129285	PPP1R21	OMIM:619383
HP:0000235	Abnormality of the fontanelles or cranial sutures	1656	DDX6	OMIM:618653
HP:0000235	Abnormality of the fontanelles or cranial sutures	2137	EXTL3	ORPHA:508533
HP:0000235	Abnormality of the fontanelles or cranial sutures	4088	SMAD3	ORPHA:284984
HP:0000235	Abnormality of the fontanelles or cranial sutures	4088	SMAD3	OMIM:613795
HP:0000235	Abnormality of the fontanelles or cranial sutures	7528	YY1	ORPHA:506358
HP:0000235	Abnormality of the fontanelles or cranial sutures	64116	SLC39A8	OMIM:616721
HP:0000235	Abnormality of the fontanelles or cranial sutures	64116	SLC39A8	ORPHA:468699
HP:0000235	Abnormality of the fontanelles or cranial sutures	10312	TCIRG1	OMIM:259700
HP:0000235	Abnormality of the fontanelles or cranial sutures	10312	TCIRG1	ORPHA:667
HP:0000235	Abnormality of the fontanelles or cranial sutures	7355	SLC35A2	ORPHA:356961
HP:0000235	Abnormality of the fontanelles or cranial sutures	57539	WDR35	OMIM:613610
HP:0000235	Abnormality of the fontanelles or cranial sutures	57539	WDR35	ORPHA:1515
HP:0000235	Abnormality of the fontanelles or cranial sutures	89970	RSPRY1	OMIM:616723
HP:0000235	Abnormality of the fontanelles or cranial sutures	89970	RSPRY1	ORPHA:457395
HP:0000235	Abnormality of the fontanelles or cranial sutures	26115	TANC2	OMIM:618906
HP:0000235	Abnormality of the fontanelles or cranial sutures	64324	NSD1	ORPHA:821
HP:0000235	Abnormality of the fontanelles or cranial sutures	29072	SETD2	ORPHA:821
HP:0000235	Abnormality of the fontanelles or cranial sutures	10297	APC2	ORPHA:821
HP:0000235	Abnormality of the fontanelles or cranial sutures	1186	CLCN7	ORPHA:667
HP:0000235	Abnormality of the fontanelles or cranial sutures	29887	SNX10	ORPHA:667
HP:0000235	Abnormality of the fontanelles or cranial sutures	8600	TNFSF11	ORPHA:667
HP:0000235	Abnormality of the fontanelles or cranial sutures	55593	OTUD5	OMIM:301056
HP:0000235	Abnormality of the fontanelles or cranial sutures	4125	MAN2B1	ORPHA:309282
HP:0000235	Abnormality of the fontanelles or cranial sutures	4774	NFIA	ORPHA:401986
HP:0000235	Abnormality of the fontanelles or cranial sutures	249	ALPL	OMIM:241500
HP:0000235	Abnormality of the fontanelles or cranial sutures	249	ALPL	OMIM:241510
HP:0000235	Abnormality of the fontanelles or cranial sutures	91179	SCARF2	OMIM:600920
HP:0000235	Abnormality of the fontanelles or cranial sutures	27245	AHDC1	ORPHA:412069
HP:0000235	Abnormality of the fontanelles or cranial sutures	10157	AASS	ORPHA:2203
HP:0000235	Abnormality of the fontanelles or cranial sutures	51098	IFT52	ORPHA:1515
HP:0000235	Abnormality of the fontanelles or cranial sutures	4784	NFIX	OMIM:602535
HP:0000235	Abnormality of the fontanelles or cranial sutures	4784	NFIX	ORPHA:561
HP:0000235	Abnormality of the fontanelles or cranial sutures	284058	KANSL1	ORPHA:363958
HP:0000235	Abnormality of the fontanelles or cranial sutures	284058	KANSL1	ORPHA:363965
HP:0000235	Abnormality of the fontanelles or cranial sutures	9739	SETD1A	OMIM:619056
HP:0000235	Abnormality of the fontanelles or cranial sutures	10265	IRX5	OMIM:611174
HP:0000235	Abnormality of the fontanelles or cranial sutures	6774	STAT3	ORPHA:2314
HP:0000235	Abnormality of the fontanelles or cranial sutures	6774	STAT3	OMIM:147060
HP:0000235	Abnormality of the fontanelles or cranial sutures	7994	KAT6A	ORPHA:457193
HP:0000235	Abnormality of the fontanelles or cranial sutures	7994	KAT6A	OMIM:616268
HP:0000235	Abnormality of the fontanelles or cranial sutures	3572	IL6ST	OMIM:618523
HP:0000235	Abnormality of the fontanelles or cranial sutures	4091	SMAD6	OMIM:617439
HP:0000235	Abnormality of the fontanelles or cranial sutures	81620	CDT1	ORPHA:2554
HP:0000235	Abnormality of the fontanelles or cranial sutures	5000	ORC4	ORPHA:2554
HP:0000235	Abnormality of the fontanelles or cranial sutures	23594	ORC6	ORPHA:2554
HP:0000235	Abnormality of the fontanelles or cranial sutures	990	CDC6	ORPHA:2554
HP:0000235	Abnormality of the fontanelles or cranial sutures	51053	GMNN	ORPHA:2554
HP:0000235	Abnormality of the fontanelles or cranial sutures	29968	PSAT1	ORPHA:284417
HP:0000235	Abnormality of the fontanelles or cranial sutures	1954	MEGF8	OMIM:614976
HP:0000235	Abnormality of the fontanelles or cranial sutures	1954	MEGF8	ORPHA:65759
HP:0000235	Abnormality of the fontanelles or cranial sutures	2200	FBN1	OMIM:616914
HP:0000235	Abnormality of the fontanelles or cranial sutures	2200	FBN1	ORPHA:2462
HP:0000235	Abnormality of the fontanelles or cranial sutures	29980	DONSON	OMIM:251230
HP:0000235	Abnormality of the fontanelles or cranial sutures	11285	B4GALT7	OMIM:130070
HP:0000235	Abnormality of the fontanelles or cranial sutures	5251	PHEX	ORPHA:89936
HP:0000235	Abnormality of the fontanelles or cranial sutures	26038	CHD5	OMIM:619873
HP:0000235	Abnormality of the fontanelles or cranial sutures	10664	CTCF	ORPHA:363611
HP:0000235	Abnormality of the fontanelles or cranial sutures	149371	EXOC8	OMIM:619076
HP:0000235	Abnormality of the fontanelles or cranial sutures	4041	LRP5	ORPHA:178377
HP:0000235	Abnormality of the fontanelles or cranial sutures	5530	PPP3CA	OMIM:618265
HP:0000235	Abnormality of the fontanelles or cranial sutures	92002	CCNQ	OMIM:300707
HP:0000235	Abnormality of the fontanelles or cranial sutures	9508	ADAMTS3	ORPHA:2136
HP:0000235	Abnormality of the fontanelles or cranial sutures	10283	CWC27	OMIM:250410
HP:0000235	Abnormality of the fontanelles or cranial sutures	10283	CWC27	ORPHA:166035
HP:0000235	Abnormality of the fontanelles or cranial sutures	81031	SLC2A10	ORPHA:3342
HP:0000235	Abnormality of the fontanelles or cranial sutures	54499	TMCO1	OMIM:213980
HP:0000235	Abnormality of the fontanelles or cranial sutures	25914	RTTN	ORPHA:468631
HP:0000235	Abnormality of the fontanelles or cranial sutures	157570	ESCO2	ORPHA:3103
HP:0000235	Abnormality of the fontanelles or cranial sutures	157570	ESCO2	OMIM:268300
HP:0000235	Abnormality of the fontanelles or cranial sutures	2317	FLNB	ORPHA:503
HP:0000235	Abnormality of the fontanelles or cranial sutures	5728	PTEN	ORPHA:744
HP:0000235	Abnormality of the fontanelles or cranial sutures	207	AKT1	ORPHA:744
HP:0000235	Abnormality of the fontanelles or cranial sutures	78989	COLEC11	OMIM:265050
HP:0000235	Abnormality of the fontanelles or cranial sutures	78989	COLEC11	ORPHA:293843
HP:0000235	Abnormality of the fontanelles or cranial sutures	374879	ZNF699	OMIM:619488
HP:0000235	Abnormality of the fontanelles or cranial sutures	9702	CEP57	OMIM:614114
HP:0000235	Abnormality of the fontanelles or cranial sutures	5500	PPP1CB	OMIM:617506
HP:0000235	Abnormality of the fontanelles or cranial sutures	126792	B3GALT6	ORPHA:536467
HP:0000235	Abnormality of the fontanelles or cranial sutures	4621	MYH3	OMIM:178110
HP:0000235	Abnormality of the fontanelles or cranial sutures	1758	DMP1	ORPHA:289176
HP:0000235	Abnormality of the fontanelles or cranial sutures	1758	DMP1	OMIM:241520
HP:0000235	Abnormality of the fontanelles or cranial sutures	5167	ENPP1	ORPHA:289176
HP:0000235	Abnormality of the fontanelles or cranial sutures	7048	TGFBR2	OMIM:610168
HP:0000235	Abnormality of the fontanelles or cranial sutures	7048	TGFBR2	ORPHA:60030
HP:0000235	Abnormality of the fontanelles or cranial sutures	1062	CENPE	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	5116	PCNT	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	5932	RBBP8	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	79902	NUP85	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	84126	ATRIP	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	55835	CENPJ	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	10293	TRAIP	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	22995	CEP152	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	10733	PLK4	ORPHA:808
HP:0000235	Abnormality of the fontanelles or cranial sutures	5557	PRIM1	OMIM:620005
HP:0000235	Abnormality of the fontanelles or cranial sutures	10584	COLEC10	ORPHA:293843
HP:0000235	Abnormality of the fontanelles or cranial sutures	6885	MAP3K7	ORPHA:1826
HP:0000235	Abnormality of the fontanelles or cranial sutures	404672	GTF2H5	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	833	CARS1	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	2068	ERCC2	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	7737	RNF113A	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	136647	MPLKIP	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	6897	TARS1	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	2071	ERCC3	ORPHA:33364
HP:0000235	Abnormality of the fontanelles or cranial sutures	23592	LEMD3	ORPHA:1306
HP:0000235	Abnormality of the fontanelles or cranial sutures	11011	TLK2	OMIM:618050
HP:0000235	Abnormality of the fontanelles or cranial sutures	9469	CHST3	OMIM:245600
HP:0000235	Abnormality of the fontanelles or cranial sutures	26229	B3GAT3	OMIM:245600
HP:0000235	Abnormality of the fontanelles or cranial sutures	11133	KPTN	ORPHA:397612
HP:0000235	Abnormality of the fontanelles or cranial sutures	25970	SH2B1	ORPHA:261197
HP:0000235	Abnormality of the fontanelles or cranial sutures	7046	TGFBR1	ORPHA:60030
HP:0000235	Abnormality of the fontanelles or cranial sutures	7046	TGFBR1	OMIM:609192
HP:0000235	Abnormality of the fontanelles or cranial sutures	10526	IPO8	ORPHA:60030
HP:0000235	Abnormality of the fontanelles or cranial sutures	10082	GPC6	ORPHA:93329
HP:0000235	Abnormality of the fontanelles or cranial sutures	9990	SLC12A6	ORPHA:1496
HP:0000235	Abnormality of the fontanelles or cranial sutures	56603	CYP26B1	OMIM:614416
HP:0000235	Abnormality of the fontanelles or cranial sutures	3852	KRT5	ORPHA:79396
HP:0000235	Abnormality of the fontanelles or cranial sutures	3861	KRT14	ORPHA:79396
HP:0000235	Abnormality of the fontanelles or cranial sutures	10075	HUWE1	OMIM:309590
HP:0000235	Abnormality of the fontanelles or cranial sutures	139285	AMER1	OMIM:300373
HP:0000235	Abnormality of the fontanelles or cranial sutures	6197	RPS6KA3	OMIM:303600
HP:0000235	Abnormality of the fontanelles or cranial sutures	443	ASPA	OMIM:271900
HP:0000235	Abnormality of the fontanelles or cranial sutures	6905	TBCE	OMIM:244460
HP:0000235	Abnormality of the fontanelles or cranial sutures	9759	HDAC4	OMIM:619797
HP:0000235	Abnormality of the fontanelles or cranial sutures	23545	ATP6V0A2	ORPHA:357074
HP:0000235	Abnormality of the fontanelles or cranial sutures	23545	ATP6V0A2	ORPHA:2834
HP:0000235	Abnormality of the fontanelles or cranial sutures	23545	ATP6V0A2	OMIM:278250
HP:0000235	Abnormality of the fontanelles or cranial sutures	523	ATP6V1A	ORPHA:357074
HP:0000235	Abnormality of the fontanelles or cranial sutures	529	ATP6V1E1	ORPHA:357074
HP:0000235	Abnormality of the fontanelles or cranial sutures	54892	NCAPG2	OMIM:618460
HP:0000235	Abnormality of the fontanelles or cranial sutures	84168	ANTXR1	OMIM:230740
HP:0000235	Abnormality of the fontanelles or cranial sutures	8815	BANF1	OMIM:614008
HP:0000235	Abnormality of the fontanelles or cranial sutures	5824	PEX19	OMIM:614886
HP:0000235	Abnormality of the fontanelles or cranial sutures	5195	PEX14	OMIM:614887
HP:0000235	Abnormality of the fontanelles or cranial sutures	63901	FAM111A	OMIM:127000
HP:0000235	Abnormality of the fontanelles or cranial sutures	11128	POLR3A	OMIM:264090
HP:0000235	Abnormality of the fontanelles or cranial sutures	4313	MMP2	OMIM:259600
HP:0000235	Abnormality of the fontanelles or cranial sutures	2887	GRB10	ORPHA:96182
HP:0000235	Abnormality of the fontanelles or cranial sutures	3481	IGF2	ORPHA:231140
HP:0000235	Abnormality of the fontanelles or cranial sutures	283120	H19	ORPHA:231140
HP:0000235	Abnormality of the fontanelles or cranial sutures	10484	SEC23A	OMIM:607812
HP:0000235	Abnormality of the fontanelles or cranial sutures	1277	COL1A1	OMIM:130060
HP:0000235	Abnormality of the fontanelles or cranial sutures	9509	ADAMTS2	OMIM:225410
HP:0000235	Abnormality of the fontanelles or cranial sutures	7545	ZIC1	OMIM:618736
HP:0000235	Abnormality of the fontanelles or cranial sutures	114548	NLRP3	ORPHA:1451
HP:0000235	Abnormality of the fontanelles or cranial sutures	2316	FLNA	OMIM:311300
HP:0000235	Abnormality of the fontanelles or cranial sutures	2316	FLNA	OMIM:304120
HP:0000235	Abnormality of the fontanelles or cranial sutures	9968	MED12	OMIM:305450
HP:0000235	Abnormality of the fontanelles or cranial sutures	9126	SMC3	OMIM:610759
HP:0000235	Abnormality of the fontanelles or cranial sutures	9131	AIFM1	OMIM:300232
HP:0000235	Abnormality of the fontanelles or cranial sutures	79879	CCDC134	OMIM:619795
HP:0000235	Abnormality of the fontanelles or cranial sutures	23126	POGZ	OMIM:616364
HP:0000235	Abnormality of the fontanelles or cranial sutures	5593	PRKG2	OMIM:619638
HP:0000235	Abnormality of the fontanelles or cranial sutures	5352	PLOD2	ORPHA:2771
HP:0000235	Abnormality of the fontanelles or cranial sutures	5352	PLOD2	OMIM:609220
HP:0000235	Abnormality of the fontanelles or cranial sutures	60681	FKBP10	ORPHA:2771
HP:0000235	Abnormality of the fontanelles or cranial sutures	60681	FKBP10	OMIM:610968
HP:0000235	Abnormality of the fontanelles or cranial sutures	27125	AFF4	ORPHA:444077
HP:0000235	Abnormality of the fontanelles or cranial sutures	221496	LEMD2	OMIM:619322
HP:0000235	Abnormality of the fontanelles or cranial sutures	202018	TAPT1	OMIM:616897
HP:0000235	Abnormality of the fontanelles or cranial sutures	6335	SCN9A	ORPHA:970
HP:0000235	Abnormality of the fontanelles or cranial sutures	65125	WNK1	ORPHA:970
HP:0000235	Abnormality of the fontanelles or cranial sutures	54463	RETREG1	ORPHA:970
HP:0000235	Abnormality of the fontanelles or cranial sutures	547	KIF1A	ORPHA:970
HP:0000235	Abnormality of the fontanelles or cranial sutures	11014	KDELR2	OMIM:619131
HP:0000235	Abnormality of the fontanelles or cranial sutures	55603	TENT5A	OMIM:617952
HP:0000235	Abnormality of the fontanelles or cranial sutures	4853	NOTCH2	OMIM:102500
HP:0000235	Abnormality of the fontanelles or cranial sutures	4853	NOTCH2	ORPHA:955
HP:0000235	Abnormality of the fontanelles or cranial sutures	64919	BCL11B	OMIM:617237
HP:0000235	Abnormality of the fontanelles or cranial sutures	1108	CHD4	OMIM:617159
HP:0000235	Abnormality of the fontanelles or cranial sutures	23184	MESD	OMIM:618644
HP:0000235	Abnormality of the fontanelles or cranial sutures	90993	CREB3L1	OMIM:616229
HP:0000235	Abnormality of the fontanelles or cranial sutures	5479	PPIB	OMIM:259440
HP:0000235	Abnormality of the fontanelles or cranial sutures	92344	GORAB	OMIM:231070
HP:0000235	Abnormality of the fontanelles or cranial sutures	387733	IFITM5	OMIM:610967
HP:0000235	Abnormality of the fontanelles or cranial sutures	7067	THRA	OMIM:614450
HP:0000235	Abnormality of the fontanelles or cranial sutures	649	BMP1	OMIM:614856
HP:0000235	Abnormality of the fontanelles or cranial sutures	196528	ARID2	OMIM:617808
HP:0000235	Abnormality of the fontanelles or cranial sutures	121340	SP7	OMIM:613849
HP:0000235	Abnormality of the fontanelles or cranial sutures	1947	EFNB1	OMIM:304110
HP:0000235	Abnormality of the fontanelles or cranial sutures	5034	P4HB	OMIM:112240
HP:0000235	Abnormality of the fontanelles or cranial sutures	2961	GTF2E2	OMIM:616943
HP:0000235	Abnormality of the fontanelles or cranial sutures	147372	CCBE1	OMIM:235510
HP:0000235	Abnormality of the fontanelles or cranial sutures	1513	CTSK	ORPHA:763
HP:0000235	Abnormality of the fontanelles or cranial sutures	60529	ALX4	ORPHA:228390
HP:0000235	Abnormality of the fontanelles or cranial sutures	54928	BPNT2	OMIM:614078
HP:0000235	Abnormality of the fontanelles or cranial sutures	2260	FGFR1	OMIM:101600
HP:0000235	Abnormality of the fontanelles or cranial sutures	2260	FGFR1	OMIM:123150
HP:0000235	Abnormality of the fontanelles or cranial sutures	5422	POLA1	ORPHA:163976
HP:0000235	Abnormality of the fontanelles or cranial sutures	5977	DPF2	OMIM:618027
HP:0000235	Abnormality of the fontanelles or cranial sutures	6651	SON	ORPHA:500150
HP:0000235	Abnormality of the fontanelles or cranial sutures	6938	TCF12	OMIM:615314
HP:0000235	Abnormality of the fontanelles or cranial sutures	1801	DPH1	OMIM:616901
HP:0000235	Abnormality of the fontanelles or cranial sutures	1801	DPH1	ORPHA:459061
HP:0000235	Abnormality of the fontanelles or cranial sutures	1788	DNMT3A	OMIM:615879
HP:0000235	Abnormality of the fontanelles or cranial sutures	3845	KRAS	OMIM:609942
HP:0000235	Abnormality of the fontanelles or cranial sutures	526	ATP6V1B2	ORPHA:79500
HP:0000235	Abnormality of the fontanelles or cranial sutures	57465	TBC1D24	ORPHA:79500
HP:0000235	Abnormality of the fontanelles or cranial sutures	55764	IFT122	OMIM:218330
HP:0000235	Abnormality of the fontanelles or cranial sutures	112752	IFT43	OMIM:614099
HP:0000235	Abnormality of the fontanelles or cranial sutures	57728	WDR19	OMIM:614378
HP:0000235	Abnormality of the fontanelles or cranial sutures	23384	SPECC1L	OMIM:145420
HP:0000235	Abnormality of the fontanelles or cranial sutures	3190	HNRNPK	ORPHA:453504
HP:0000235	Abnormality of the fontanelles or cranial sutures	3190	HNRNPK	ORPHA:352665
HP:0000235	Abnormality of the fontanelles or cranial sutures	9401	RECQL4	OMIM:218600
HP:0000235	Abnormality of the fontanelles or cranial sutures	2077	ERF	OMIM:600775
HP:0000235	Abnormality of the fontanelles or cranial sutures	267010	RNU12	OMIM:603116
HP:0000235	Abnormality of the fontanelles or cranial sutures	652	BMP4	OMIM:607932
HP:0000235	Abnormality of the fontanelles or cranial sutures	9871	SEC24D	OMIM:616294
HP:0000235	Abnormality of the fontanelles or cranial sutures	51715	RAB23	OMIM:201000
HP:0000235	Abnormality of the fontanelles or cranial sutures	3590	IL11RA	OMIM:614188
HP:0000235	Abnormality of the fontanelles or cranial sutures	51604	PIGT	OMIM:615398
HP:0000235	Abnormality of the fontanelles or cranial sutures	5648	MASP1	OMIM:257920
HP:0000235	Abnormality of the fontanelles or cranial sutures	5447	POR	OMIM:207410
HP:0000235	Abnormality of the fontanelles or cranial sutures	2263	FGFR2	OMIM:207410
HP:0000235	Abnormality of the fontanelles or cranial sutures	2263	FGFR2	OMIM:101400
HP:0000235	Abnormality of the fontanelles or cranial sutures	2263	FGFR2	OMIM:123500
HP:0000235	Abnormality of the fontanelles or cranial sutures	2263	FGFR2	OMIM:101200
HP:0000235	Abnormality of the fontanelles or cranial sutures	7291	TWIST1	OMIM:101400
HP:0000235	Abnormality of the fontanelles or cranial sutures	29123	ANKRD11	ORPHA:2332
HP:0000235	Abnormality of the fontanelles or cranial sutures	2688	GH1	OMIM:262400
HP:0000235	Abnormality of the fontanelles or cranial sutures	2879	GPX4	OMIM:250220
HP:0000235	Abnormality of the fontanelles or cranial sutures	183	AGT	OMIM:267430
HP:0000235	Abnormality of the fontanelles or cranial sutures	5972	REN	OMIM:267430
HP:0000235	Abnormality of the fontanelles or cranial sutures	185	AGTR1	OMIM:267430
HP:0000235	Abnormality of the fontanelles or cranial sutures	1636	ACE	OMIM:267430
HP:0000235	Abnormality of the fontanelles or cranial sutures	1594	CYP27B1	OMIM:264700
HP:0000235	Abnormality of the fontanelles or cranial sutures	142680	SLC34A3	OMIM:241530
HP:0000235	Abnormality of the fontanelles or cranial sutures	7421	VDR	OMIM:277440
HP:0000235	Abnormality of the fontanelles or cranial sutures	120227	CYP2R1	OMIM:600081
HP:0000235	Abnormality of the fontanelles or cranial sutures	4323	MMP14	ORPHA:371428
HP:0000235	Abnormality of the fontanelles or cranial sutures	1509	CTSD	OMIM:610127
HP:0000235	Abnormality of the fontanelles or cranial sutures	2067	ERCC1	OMIM:610758
HP:0000235	Abnormality of the fontanelles or cranial sutures	1301	COL11A1	OMIM:228520
HP:0000235	Abnormality of the fontanelles or cranial sutures	3192	HNRNPU	ORPHA:238769
HP:0000235	Abnormality of the fontanelles or cranial sutures	158	ADSL	OMIM:103050
HP:0000235	Abnormality of the fontanelles or cranial sutures	158	ADSL	ORPHA:46
HP:0000235	Abnormality of the fontanelles or cranial sutures	5518	PPP2R1A	OMIM:616362
HP:0000235	Abnormality of the fontanelles or cranial sutures	5518	PPP2R1A	ORPHA:457284
HP:0000235	Abnormality of the fontanelles or cranial sutures	6309	SC5D	ORPHA:46059
HP:0000235	Abnormality of the fontanelles or cranial sutures	104	ADARB1	OMIM:618862
HP:0000235	Abnormality of the fontanelles or cranial sutures	2290	FOXG1	ORPHA:261144
HP:0000235	Abnormality of the fontanelles or cranial sutures	10765	KDM5B	OMIM:618109
HP:0000235	Abnormality of the fontanelles or cranial sutures	84570	COL25A1	ORPHA:91411
HP:0000235	Abnormality of the fontanelles or cranial sutures	79776	ZFHX4	ORPHA:91411
HP:0000235	Abnormality of the fontanelles or cranial sutures	10847	SRCAP	OMIM:136140
HP:0000235	Abnormality of the fontanelles or cranial sutures	3021	H3-3B	OMIM:619721
HP:0000235	Abnormality of the fontanelles or cranial sutures	5594	MAPK1	OMIM:619087
HP:0000235	Abnormality of the fontanelles or cranial sutures	23030	KDM4B	OMIM:619320
HP:0000235	Abnormality of the fontanelles or cranial sutures	4010	LMX1B	ORPHA:495818
HP:0000235	Abnormality of the fontanelles or cranial sutures	6812	STXBP1	ORPHA:495818
HP:0000235	Abnormality of the fontanelles or cranial sutures	55780	ERMARD	ORPHA:75857
HP:0000235	Abnormality of the fontanelles or cranial sutures	471	ATIC	OMIM:608688
HP:0000235	Abnormality of the fontanelles or cranial sutures	3767	KCNJ11	ORPHA:79134
HP:0000235	Abnormality of the fontanelles or cranial sutures	3767	KCNJ11	ORPHA:99885
HP:0000235	Abnormality of the fontanelles or cranial sutures	3767	KCNJ11	OMIM:618856
HP:0000235	Abnormality of the fontanelles or cranial sutures	79731	NARS2	ORPHA:79134
HP:0000235	Abnormality of the fontanelles or cranial sutures	6833	ABCC8	ORPHA:79134
HP:0000235	Abnormality of the fontanelles or cranial sutures	6833	ABCC8	ORPHA:99885
HP:0000235	Abnormality of the fontanelles or cranial sutures	2645	GCK	ORPHA:99885
HP:0000235	Abnormality of the fontanelles or cranial sutures	3651	PDX1	ORPHA:99885
HP:0000235	Abnormality of the fontanelles or cranial sutures	3630	INS	ORPHA:99885
HP:0000235	Abnormality of the fontanelles or cranial sutures	4131	MAP1B	OMIM:618918
HP:0000235	Abnormality of the fontanelles or cranial sutures	2074	ERCC6	ORPHA:1466
HP:0000235	Abnormality of the fontanelles or cranial sutures	2073	ERCC5	ORPHA:1466
HP:0000235	Abnormality of the fontanelles or cranial sutures	23511	NUP188	OMIM:618804
HP:0000235	Abnormality of the fontanelles or cranial sutures	84081	NSRP1	OMIM:620001
HP:0000235	Abnormality of the fontanelles or cranial sutures	23116	TOGARAM1	OMIM:619185
HP:0000235	Abnormality of the fontanelles or cranial sutures	171023	ASXL1	ORPHA:97297
HP:0000235	Abnormality of the fontanelles or cranial sutures	171023	ASXL1	OMIM:605039
HP:0000235	Abnormality of the fontanelles or cranial sutures	23036	ZNF292	OMIM:619188
HP:0000235	Abnormality of the fontanelles or cranial sutures	2702	GJA5	OMIM:612474
HP:0000235	Abnormality of the fontanelles or cranial sutures	2703	GJA8	OMIM:612474
HP:0000235	Abnormality of the fontanelles or cranial sutures	92949	ADAMTSL1	ORPHA:521445
HP:0000235	Abnormality of the fontanelles or cranial sutures	4854	NOTCH3	ORPHA:2789
HP:0000235	Abnormality of the fontanelles or cranial sutures	93627	TBCK	ORPHA:488632
HP:0000235	Abnormality of the fontanelles or cranial sutures	6602	SMARCD1	OMIM:618779
HP:0000235	Abnormality of the fontanelles or cranial sutures	58499	ZNF462	OMIM:618619
HP:0000235	Abnormality of the fontanelles or cranial sutures	5813	PURA	ORPHA:314655
HP:0000235	Abnormality of the fontanelles or cranial sutures	197131	UBR1	OMIM:243800
HP:0000235	Abnormality of the fontanelles or cranial sutures	79158	GNPTAB	OMIM:252500
HP:0000235	Abnormality of the fontanelles or cranial sutures	56896	DPYSL5	OMIM:619435
HP:0000235	Abnormality of the fontanelles or cranial sutures	55697	VAC14	ORPHA:3472
HP:0000235	Abnormality of the fontanelles or cranial sutures	27161	AGO2	OMIM:619149
HP:0000235	Abnormality of the fontanelles or cranial sutures	55503	TRPV6	OMIM:618188
HP:0000235	Abnormality of the fontanelles or cranial sutures	29998	BICRA	OMIM:619325
HP:0000235	Abnormality of the fontanelles or cranial sutures	153241	CEP120	OMIM:616300
HP:0000235	Abnormality of the fontanelles or cranial sutures	84720	PIGO	OMIM:614749
HP:0000235	Abnormality of the fontanelles or cranial sutures	9839	ZEB2	ORPHA:261537
HP:0000235	Abnormality of the fontanelles or cranial sutures	9839	ZEB2	ORPHA:261552
HP:0000235	Abnormality of the fontanelles or cranial sutures	4488	MSX2	OMIM:604757
HP:0000235	Abnormality of the fontanelles or cranial sutures	222663	SCUBE3	OMIM:619184
HP:0000235	Abnormality of the fontanelles or cranial sutures	8294	H4C9	OMIM:619951
HP:0000235	Abnormality of the fontanelles or cranial sutures	6608	SMO	OMIM:601707
HP:0000235	Abnormality of the fontanelles or cranial sutures	5881	RAC3	OMIM:618577
HP:0000235	Abnormality of the fontanelles or cranial sutures	1312	COMT	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	221037	JMJD1C	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	2812	GP1BB	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	6239	RREB1	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	6899	TBX1	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	7290	HIRA	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	9632	SEC24C	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	7353	UFD1	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	421	ARVCF	ORPHA:567
HP:0000235	Abnormality of the fontanelles or cranial sutures	54820	NDE1	ORPHA:2177
HP:0000235	Abnormality of the fontanelles or cranial sutures	546	ATRX	ORPHA:847
HP:0000235	Abnormality of the fontanelles or cranial sutures	8925	HERC1	ORPHA:457359
HP:0000235	Abnormality of the fontanelles or cranial sutures	158326	FREM1	OMIM:614485
HP:0000235	Abnormality of the fontanelles or cranial sutures	1024	CDK8	OMIM:618748
HP:0000235	Abnormality of the fontanelles or cranial sutures	51259	TMEM216	OMIM:608091
HP:0000235	Abnormality of the fontanelles or cranial sutures	8496	PPFIBP1	OMIM:620024
HP:0000235	Abnormality of the fontanelles or cranial sutures	5727	PTCH1	ORPHA:77301
HP:0000235	Abnormality of the fontanelles or cranial sutures	56098	PCDHGC4	OMIM:619880
HP:0000235	Abnormality of the fontanelles or cranial sutures	1642	DDB1	OMIM:619426
HP:0000235	Abnormality of the fontanelles or cranial sutures	2719	GPC3	OMIM:312870
HP:0000235	Abnormality of the fontanelles or cranial sutures	2239	GPC4	OMIM:312870
HP:0000236	Abnormality of the anterior fontanelle	23114	NFASC	OMIM:618356
HP:0000236	Abnormality of the anterior fontanelle	57061	HYMAI	ORPHA:96191
HP:0000236	Abnormality of the anterior fontanelle	5325	PLAGL1	ORPHA:96191
HP:0000236	Abnormality of the anterior fontanelle	4998	ORC1	OMIM:224690
HP:0000236	Abnormality of the anterior fontanelle	545	ATR	OMIM:210600
HP:0000236	Abnormality of the anterior fontanelle	100151683	RNU4ATAC	OMIM:210710
HP:0000236	Abnormality of the anterior fontanelle	4613	MYCN	OMIM:164280
HP:0000236	Abnormality of the anterior fontanelle	7407	VARS1	OMIM:617802
HP:0000236	Abnormality of the anterior fontanelle	60386	SLC25A19	OMIM:607196
HP:0000236	Abnormality of the anterior fontanelle	10682	EBP	ORPHA:401973
HP:0000236	Abnormality of the anterior fontanelle	4921	DDR2	OMIM:271665
HP:0000236	Abnormality of the anterior fontanelle	5648	MASP1	OMIM:257920
HP:0000236	Abnormality of the anterior fontanelle	9526	MPDU1	OMIM:609180
HP:0000236	Abnormality of the anterior fontanelle	9526	MPDU1	ORPHA:79323
HP:0000236	Abnormality of the anterior fontanelle	1278	COL1A2	OMIM:259420
HP:0000236	Abnormality of the anterior fontanelle	5447	POR	ORPHA:95699
HP:0000236	Abnormality of the anterior fontanelle	5447	POR	OMIM:207410
HP:0000236	Abnormality of the anterior fontanelle	2737	GLI3	ORPHA:36
HP:0000236	Abnormality of the anterior fontanelle	374654	KIF7	ORPHA:36
HP:0000236	Abnormality of the anterior fontanelle	374654	KIF7	OMIM:200990
HP:0000236	Abnormality of the anterior fontanelle	4281	MID1	OMIM:300000
HP:0000236	Abnormality of the anterior fontanelle	4920	ROR2	OMIM:113000
HP:0000236	Abnormality of the anterior fontanelle	4920	ROR2	OMIM:268310
HP:0000236	Abnormality of the anterior fontanelle	2263	FGFR2	OMIM:207410
HP:0000236	Abnormality of the anterior fontanelle	169792	GLIS3	OMIM:610199
HP:0000236	Abnormality of the anterior fontanelle	6662	SOX9	OMIM:114290
HP:0000236	Abnormality of the anterior fontanelle	5189	PEX1	OMIM:214100
HP:0000236	Abnormality of the anterior fontanelle	5189	PEX1	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5189	PEX1	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	29957	SLC25A24	ORPHA:2963
HP:0000236	Abnormality of the anterior fontanelle	29957	SLC25A24	OMIM:612289
HP:0000236	Abnormality of the anterior fontanelle	64175	P3H1	OMIM:610915
HP:0000236	Abnormality of the anterior fontanelle	170302	ARX	OMIM:300215
HP:0000236	Abnormality of the anterior fontanelle	25915	NDUFAF3	OMIM:618240
HP:0000236	Abnormality of the anterior fontanelle	8260	NAA10	OMIM:300855
HP:0000236	Abnormality of the anterior fontanelle	2261	FGFR3	ORPHA:1860
HP:0000236	Abnormality of the anterior fontanelle	2261	FGFR3	ORPHA:15
HP:0000236	Abnormality of the anterior fontanelle	2261	FGFR3	OMIM:616482
HP:0000236	Abnormality of the anterior fontanelle	1147	CHUK	OMIM:619339
HP:0000236	Abnormality of the anterior fontanelle	1009	CDH11	OMIM:619736
HP:0000236	Abnormality of the anterior fontanelle	7490	WT1	OMIM:194080
HP:0000236	Abnormality of the anterior fontanelle	9377	COX5A	OMIM:619064
HP:0000236	Abnormality of the anterior fontanelle	7703	PCGF2	OMIM:618371
HP:0000236	Abnormality of the anterior fontanelle	9401	RECQL4	OMIM:218600
HP:0000236	Abnormality of the anterior fontanelle	1301	COL11A1	OMIM:228520
HP:0000236	Abnormality of the anterior fontanelle	1301	COL11A1	ORPHA:2021
HP:0000236	Abnormality of the anterior fontanelle	79796	ALG9	OMIM:263210
HP:0000236	Abnormality of the anterior fontanelle	79796	ALG9	ORPHA:79328
HP:0000236	Abnormality of the anterior fontanelle	2475	MTOR	OMIM:616638
HP:0000236	Abnormality of the anterior fontanelle	79633	FAT4	OMIM:615546
HP:0000236	Abnormality of the anterior fontanelle	4036	LRP2	ORPHA:2143
HP:0000236	Abnormality of the anterior fontanelle	4036	LRP2	OMIM:222448
HP:0000236	Abnormality of the anterior fontanelle	1302	COL11A2	ORPHA:2021
HP:0000236	Abnormality of the anterior fontanelle	8642	DCHS1	OMIM:601390
HP:0000236	Abnormality of the anterior fontanelle	5193	PEX12	OMIM:614859
HP:0000236	Abnormality of the anterior fontanelle	5193	PEX12	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5193	PEX12	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	3265	HRAS	OMIM:218040
HP:0000236	Abnormality of the anterior fontanelle	26040	SETBP1	ORPHA:798
HP:0000236	Abnormality of the anterior fontanelle	3981	LIG4	ORPHA:235
HP:0000236	Abnormality of the anterior fontanelle	54888	NSUN2	ORPHA:235
HP:0000236	Abnormality of the anterior fontanelle	145173	B3GLCT	OMIM:261540
HP:0000236	Abnormality of the anterior fontanelle	56006	SMG9	OMIM:616920
HP:0000236	Abnormality of the anterior fontanelle	1387	CREBBP	OMIM:180849
HP:0000236	Abnormality of the anterior fontanelle	2033	EP300	OMIM:180849
HP:0000236	Abnormality of the anterior fontanelle	5828	PEX2	OMIM:614866
HP:0000236	Abnormality of the anterior fontanelle	5828	PEX2	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5828	PEX2	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	9091	PIGQ	OMIM:618548
HP:0000236	Abnormality of the anterior fontanelle	25839	COG4	OMIM:618150
HP:0000236	Abnormality of the anterior fontanelle	23405	DICER1	OMIM:618272
HP:0000236	Abnormality of the anterior fontanelle	285590	SH3PXD2B	OMIM:249420
HP:0000236	Abnormality of the anterior fontanelle	8318	CDC45	OMIM:617063
HP:0000236	Abnormality of the anterior fontanelle	28952	CCDC22	OMIM:300963
HP:0000236	Abnormality of the anterior fontanelle	55670	PEX26	OMIM:614872
HP:0000236	Abnormality of the anterior fontanelle	55670	PEX26	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	55670	PEX26	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	7291	TWIST1	OMIM:617746
HP:0000236	Abnormality of the anterior fontanelle	388015	RTL1	ORPHA:96334
HP:0000236	Abnormality of the anterior fontanelle	8788	DLK1	ORPHA:96334
HP:0000236	Abnormality of the anterior fontanelle	55384	MEG3	ORPHA:96334
HP:0000236	Abnormality of the anterior fontanelle	63895	PIEZO2	OMIM:248700
HP:0000236	Abnormality of the anterior fontanelle	6497	SKI	OMIM:182212
HP:0000236	Abnormality of the anterior fontanelle	8504	PEX3	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	8504	PEX3	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	9409	PEX16	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	9409	PEX16	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	5190	PEX6	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5190	PEX6	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	8799	PEX11B	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	8799	PEX11B	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	5830	PEX5	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5830	PEX5	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	5194	PEX13	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5194	PEX13	OMIM:614883
HP:0000236	Abnormality of the anterior fontanelle	5194	PEX13	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	5192	PEX10	ORPHA:44
HP:0000236	Abnormality of the anterior fontanelle	5192	PEX10	ORPHA:912
HP:0000236	Abnormality of the anterior fontanelle	57020	VPS35L	OMIM:619135
HP:0000236	Abnormality of the anterior fontanelle	5528	PPP2R5D	ORPHA:457279
HP:0000236	Abnormality of the anterior fontanelle	10661	KLF1	OMIM:613673
HP:0000236	Abnormality of the anterior fontanelle	10491	CRTAP	OMIM:610682
HP:0000236	Abnormality of the anterior fontanelle	4052	LTBP1	ORPHA:90349
HP:0000236	Abnormality of the anterior fontanelle	30008	EFEMP2	ORPHA:90349
HP:0000236	Abnormality of the anterior fontanelle	10516	FBLN5	ORPHA:90349
HP:0000236	Abnormality of the anterior fontanelle	10269	ZMPSTE24	OMIM:275210
HP:0000236	Abnormality of the anterior fontanelle	7474	WNT5A	OMIM:180700
HP:0000236	Abnormality of the anterior fontanelle	1855	DVL1	OMIM:180700
HP:0000236	Abnormality of the anterior fontanelle	56160	NSMCE3	OMIM:617241
HP:0000236	Abnormality of the anterior fontanelle	9742	IFT140	OMIM:266920
HP:0000236	Abnormality of the anterior fontanelle	10736	SIX2	ORPHA:488437
HP:0000236	Abnormality of the anterior fontanelle	25871	NEPRO	OMIM:618853
HP:0000236	Abnormality of the anterior fontanelle	27152	INTU	OMIM:617925
HP:0000236	Abnormality of the anterior fontanelle	7252	TSHB	OMIM:275100
HP:0000236	Abnormality of the anterior fontanelle	6888	TALDO1	OMIM:606003
HP:0000236	Abnormality of the anterior fontanelle	2108	ETFA	OMIM:231680
HP:0000236	Abnormality of the anterior fontanelle	2109	ETFB	OMIM:231680
HP:0000236	Abnormality of the anterior fontanelle	2110	ETFDH	OMIM:231680
HP:0000236	Abnormality of the anterior fontanelle	865	CBFB	OMIM:620099
HP:0000236	Abnormality of the anterior fontanelle	139285	AMER1	OMIM:300373
HP:0000236	Abnormality of the anterior fontanelle	6197	RPS6KA3	OMIM:303600
HP:0000236	Abnormality of the anterior fontanelle	443	ASPA	OMIM:271900
HP:0000236	Abnormality of the anterior fontanelle	6905	TBCE	OMIM:244460
HP:0000236	Abnormality of the anterior fontanelle	9759	HDAC4	OMIM:619797
HP:0000236	Abnormality of the anterior fontanelle	23545	ATP6V0A2	ORPHA:357074
HP:0000236	Abnormality of the anterior fontanelle	23545	ATP6V0A2	ORPHA:2834
HP:0000236	Abnormality of the anterior fontanelle	23545	ATP6V0A2	OMIM:278250
HP:0000236	Abnormality of the anterior fontanelle	523	ATP6V1A	ORPHA:357074
HP:0000236	Abnormality of the anterior fontanelle	529	ATP6V1E1	ORPHA:357074
HP:0000236	Abnormality of the anterior fontanelle	54892	NCAPG2	OMIM:618460
HP:0000236	Abnormality of the anterior fontanelle	84168	ANTXR1	OMIM:230740
HP:0000236	Abnormality of the anterior fontanelle	8815	BANF1	OMIM:614008
HP:0000236	Abnormality of the anterior fontanelle	5824	PEX19	OMIM:614886
HP:0000236	Abnormality of the anterior fontanelle	5195	PEX14	OMIM:614887
HP:0000236	Abnormality of the anterior fontanelle	63901	FAM111A	OMIM:127000
HP:0000236	Abnormality of the anterior fontanelle	11128	POLR3A	OMIM:264090
HP:0000236	Abnormality of the anterior fontanelle	4313	MMP2	OMIM:259600
HP:0000236	Abnormality of the anterior fontanelle	2887	GRB10	ORPHA:96182
HP:0000236	Abnormality of the anterior fontanelle	3481	IGF2	ORPHA:231140
HP:0000236	Abnormality of the anterior fontanelle	283120	H19	ORPHA:231140
HP:0000236	Abnormality of the anterior fontanelle	10484	SEC23A	OMIM:607812
HP:0000236	Abnormality of the anterior fontanelle	1277	COL1A1	OMIM:130060
HP:0000236	Abnormality of the anterior fontanelle	9509	ADAMTS2	OMIM:225410
HP:0000236	Abnormality of the anterior fontanelle	7545	ZIC1	OMIM:618736
HP:0000236	Abnormality of the anterior fontanelle	114548	NLRP3	ORPHA:1451
HP:0000236	Abnormality of the anterior fontanelle	2316	FLNA	OMIM:311300
HP:0000236	Abnormality of the anterior fontanelle	2316	FLNA	OMIM:304120
HP:0000236	Abnormality of the anterior fontanelle	9968	MED12	OMIM:305450
HP:0000236	Abnormality of the anterior fontanelle	9126	SMC3	OMIM:610759
HP:0000236	Abnormality of the anterior fontanelle	1513	CTSK	ORPHA:763
HP:0000236	Abnormality of the anterior fontanelle	1513	CTSK	OMIM:265800
HP:0000236	Abnormality of the anterior fontanelle	29123	ANKRD11	ORPHA:2332
HP:0000236	Abnormality of the anterior fontanelle	860	RUNX2	OMIM:119600
HP:0000236	Abnormality of the anterior fontanelle	2688	GH1	OMIM:262400
HP:0000236	Abnormality of the anterior fontanelle	538	ATP7A	OMIM:304150
HP:0000236	Abnormality of the anterior fontanelle	29940	DSE	OMIM:615539
HP:0000236	Abnormality of the anterior fontanelle	197131	UBR1	OMIM:243800
HP:0000236	Abnormality of the anterior fontanelle	79158	GNPTAB	OMIM:252500
HP:0000236	Abnormality of the anterior fontanelle	56896	DPYSL5	OMIM:619435
HP:0000237	Small anterior fontanelle	10682	EBP	OMIM:300960
HP:0000237	Small anterior fontanelle	23114	NFASC	OMIM:618356
HP:0000237	Small anterior fontanelle	57061	HYMAI	ORPHA:96191
HP:0000237	Small anterior fontanelle	5325	PLAGL1	ORPHA:96191
HP:0000237	Small anterior fontanelle	4998	ORC1	OMIM:224690
HP:0000237	Small anterior fontanelle	545	ATR	OMIM:210600
HP:0000237	Small anterior fontanelle	100151683	RNU4ATAC	OMIM:210710
HP:0000237	Small anterior fontanelle	4613	MYCN	OMIM:164280
HP:0000237	Small anterior fontanelle	7407	VARS1	OMIM:617802
HP:0000237	Small anterior fontanelle	60386	SLC25A19	OMIM:607196
HP:0010451	Aplasia/Hypoplasia of the spleen	27019	DNAI1	OMIM:244400
HP:0010451	Aplasia/Hypoplasia of the spleen	27019	DNAI1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	7547	ZIC3	OMIM:306955
HP:0010451	Aplasia/Hypoplasia of the spleen	2294	FOXF1	OMIM:265380
HP:0010451	Aplasia/Hypoplasia of the spleen	2294	FOXF1	ORPHA:210122
HP:0010451	Aplasia/Hypoplasia of the spleen	326	AIRE	OMIM:240300
HP:0010451	Aplasia/Hypoplasia of the spleen	2657	GDF1	OMIM:208530
HP:0010451	Aplasia/Hypoplasia of the spleen	55329	MNS1	OMIM:618948
HP:0010451	Aplasia/Hypoplasia of the spleen	4087	SMAD2	OMIM:619657
HP:0010451	Aplasia/Hypoplasia of the spleen	284086	NEK8	OMIM:615415
HP:0010451	Aplasia/Hypoplasia of the spleen	7473	WNT3	OMIM:273395
HP:0010451	Aplasia/Hypoplasia of the spleen	4838	NODAL	OMIM:270100
HP:0010451	Aplasia/Hypoplasia of the spleen	84876	ORAI1	ORPHA:3204
HP:0010451	Aplasia/Hypoplasia of the spleen	3043	HBB	ORPHA:251380
HP:0010451	Aplasia/Hypoplasia of the spleen	53335	BCL11A	ORPHA:251380
HP:0010451	Aplasia/Hypoplasia of the spleen	10661	KLF1	ORPHA:251380
HP:0010451	Aplasia/Hypoplasia of the spleen	3047	HBG1	ORPHA:251380
HP:0010451	Aplasia/Hypoplasia of the spleen	3048	HBG2	ORPHA:251380
HP:0010451	Aplasia/Hypoplasia of the spleen	25981	DNAH1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	115948	ODAD3	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	54768	HYDIN	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	352909	DNAAF3	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	27148	STK36	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	51314	NME8	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	92749	DRC1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	54970	TTC12	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	152110	NEK10	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	8481	OFD1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	2302	FOXJ1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	221421	RSPH9	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	85478	CCDC65	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	55036	CCDC40	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	51364	ZMYND10	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	64446	DNAI2	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	6674	SPAG1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	83544	DNAL1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	89765	RSPH1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	83538	ODAD4	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	200373	CFAP221	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	374407	DNAJB13	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	55172	DNAAF2	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	161582	DNAAF4	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	2622	GAS8	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	23639	DNAAF11	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	345895	RSPH4A	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	54919	DNAAF5	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	6103	RPGR	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	388389	CCDC103	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	93233	ODAD1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	55130	ODAD2	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	1767	DNAH5	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	83861	RSPH3	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	345643	MCIDAS	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	56683	CFAP298	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	79925	SPEF2	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	10309	CCNO	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	115399	LRRC56	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	139212	DNAAF6	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	123872	DNAAF1	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	85016	CFAP300	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	339829	CCDC39	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	8701	DNAH11	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	1770	DNAH9	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	246176	GAS2L2	ORPHA:244
HP:0010451	Aplasia/Hypoplasia of the spleen	9839	ZEB2	ORPHA:261537
HP:0010451	Aplasia/Hypoplasia of the spleen	9839	ZEB2	ORPHA:261552
HP:0010451	Aplasia/Hypoplasia of the spleen	84314	TMEM107	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	26123	TCTN3	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	79867	TCTN2	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	80776	B9D2	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	79600	TCTN1	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	57096	RPGRIP1	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	79848	CSPP1	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	80184	CEP290	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	51259	TMEM216	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	57545	CC2D2A	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	79583	TMEM231	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	91147	TMEM67	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	79770	TXNDC15	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	27077	B9D1	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	23322	RPGRIP1L	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	54903	MKS1	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	54903	MKS1	OMIM:249000
HP:0010451	Aplasia/Hypoplasia of the spleen	65062	TMEM237	ORPHA:564
HP:0010451	Aplasia/Hypoplasia of the spleen	27031	NPHP3	OMIM:208540
HP:0010451	Aplasia/Hypoplasia of the spleen	3162	HMOX1	OMIM:614034
HP:0010451	Aplasia/Hypoplasia of the spleen	90416	CCDC32	OMIM:619123
HP:0010451	Aplasia/Hypoplasia of the spleen	4613	MYCN	OMIM:164280
HP:0010451	Aplasia/Hypoplasia of the spleen	7291	TWIST1	OMIM:617746
HP:0010451	Aplasia/Hypoplasia of the spleen	55997	CFC1	OMIM:605376
HP:0010451	Aplasia/Hypoplasia of the spleen	3921	RPSA	OMIM:271400
HP:0010451	Aplasia/Hypoplasia of the spleen	54809	SAMD9	OMIM:617053
HP:0010451	Aplasia/Hypoplasia of the spleen	55388	MCM10	OMIM:619313
HP:0010451	Aplasia/Hypoplasia of the spleen	5649	RELN	ORPHA:89844
HP:0010451	Aplasia/Hypoplasia of the spleen	10300	KATNB1	ORPHA:89844
HP:0010451	Aplasia/Hypoplasia of the spleen	54820	NDE1	ORPHA:89844
HP:0010451	Aplasia/Hypoplasia of the spleen	64220	STRA6	OMIM:601186
HP:0010451	Aplasia/Hypoplasia of the spleen	63901	FAM111A	OMIM:602361
HP:0010451	Aplasia/Hypoplasia of the spleen	6786	STIM1	OMIM:185070
HP:0010452	Ectopia of the spleen	93	ACVR2B	OMIM:613751
HP:0010450	Esophageal stenosis	3909	LAMA3	ORPHA:79404
HP:0010450	Esophageal stenosis	3918	LAMC2	ORPHA:79404
HP:0010450	Esophageal stenosis	3914	LAMB3	ORPHA:79404
HP:0010450	Esophageal stenosis	4629	MYH11	OMIM:619350
HP:0010450	Esophageal stenosis	1294	COL7A1	ORPHA:79409
HP:0010450	Esophageal stenosis	1294	COL7A1	OMIM:226600
HP:0010450	Esophageal stenosis	1294	COL7A1	ORPHA:89842
HP:0010450	Esophageal stenosis	1294	COL7A1	ORPHA:158673
HP:0010450	Esophageal stenosis	3106	HLA-B	ORPHA:36426
HP:0010450	Esophageal stenosis	10320	IKZF1	ORPHA:36426
HP:0010450	Esophageal stenosis	4312	MMP1	OMIM:226600
HP:0010450	Esophageal stenosis	55612	FERMT1	ORPHA:2908
HP:0010450	Esophageal stenosis	54809	SAMD9	OMIM:617053
HP:0010450	Esophageal stenosis	55651	NHP2	OMIM:224230
HP:0010450	Esophageal stenosis	55505	NOP10	OMIM:224230
HP:0010450	Esophageal stenosis	79977	GRHL2	OMIM:616029
HP:0010450	Esophageal stenosis	10892	MALT1	OMIM:615468
HP:0010450	Esophageal stenosis	5238	PGM3	OMIM:615816
HP:0010450	Esophageal stenosis	1736	DKC1	OMIM:305000
HP:0010450	Esophageal stenosis	64858	DCLRE1B	OMIM:620133
HP:0010450	Esophageal stenosis	7015	TERT	OMIM:613989
HP:0010450	Esophageal stenosis	80169	CTC1	ORPHA:1775
HP:0010450	Esophageal stenosis	26277	TINF2	ORPHA:1775
HP:0010450	Esophageal stenosis	79650	USB1	ORPHA:1775
HP:0010450	Esophageal stenosis	55135	WRAP53	ORPHA:1775
HP:0010450	Esophageal stenosis	51750	RTEL1	ORPHA:1775
HP:0010450	Esophageal stenosis	51750	RTEL1	OMIM:615190
HP:0010450	Esophageal stenosis	4869	NPM1	ORPHA:1775
HP:0010450	Esophageal stenosis	7012	TERC	ORPHA:1775
HP:0010450	Esophageal stenosis	5073	PARN	ORPHA:1775
HP:0010450	Esophageal stenosis	7298	TYMS	ORPHA:1775
HP:0010450	Esophageal stenosis	29926	GMPPA	OMIM:615510
HP:0010450	Esophageal stenosis	3655	ITGA6	OMIM:619817
HP:0010450	Esophageal stenosis	65057	ACD	OMIM:616553
HP:0010450	Esophageal stenosis	1288	COL4A6	ORPHA:1018
HP:0010450	Esophageal stenosis	1287	COL4A5	ORPHA:1018
HP:0010454	Acetabular spurs	1280	COL2A1	OMIM:271700
HP:0010454	Acetabular spurs	57728	WDR19	OMIM:614376
HP:0010454	Acetabular spurs	79659	DYNC2H1	OMIM:613091
HP:0010454	Acetabular spurs	55112	DYNC2I1	OMIM:615503
HP:0010454	Acetabular spurs	2121	EVC	OMIM:225500
HP:0010454	Acetabular spurs	132884	EVC2	OMIM:225500
HP:0010454	Acetabular spurs	255758	DYNLT2B	OMIM:617405
HP:0010455	Steep acetabular roof	55835	CENPJ	OMIM:613676
HP:0010455	Steep acetabular roof	2263	FGFR2	ORPHA:313855
HP:0010455	Steep acetabular roof	2067	ERCC1	OMIM:610758
HP:0010458	Female pseudohermaphroditism	1588	CYP19A1	OMIM:613546
HP:0010458	Female pseudohermaphroditism	1588	CYP19A1	ORPHA:91
HP:0010458	Female pseudohermaphroditism	23384	SPECC1L	ORPHA:1519
HP:0010458	Female pseudohermaphroditism	341640	FREM2	ORPHA:2052
HP:0010458	Female pseudohermaphroditism	80144	FRAS1	ORPHA:2052
HP:0010458	Female pseudohermaphroditism	23426	GRIP1	ORPHA:2052
HP:0010458	Female pseudohermaphroditism	10225	CD96	ORPHA:1308
HP:0010458	Female pseudohermaphroditism	2908	NR3C1	ORPHA:786
HP:0010459	True hermaphroditism	6662	SOX9	ORPHA:2138
HP:0010459	True hermaphroditism	2516	NR5A1	ORPHA:2138
HP:0010459	True hermaphroditism	6736	SRY	ORPHA:2138
HP:0010459	True hermaphroditism	6736	SRY	OMIM:400045
HP:0010459	True hermaphroditism	84314	TMEM107	ORPHA:564
HP:0010459	True hermaphroditism	26123	TCTN3	ORPHA:564
HP:0010459	True hermaphroditism	79867	TCTN2	ORPHA:564
HP:0010459	True hermaphroditism	80776	B9D2	ORPHA:564
HP:0010459	True hermaphroditism	79600	TCTN1	ORPHA:564
HP:0010459	True hermaphroditism	57096	RPGRIP1	ORPHA:564
HP:0010459	True hermaphroditism	79848	CSPP1	ORPHA:564
HP:0010459	True hermaphroditism	80184	CEP290	ORPHA:564
HP:0010459	True hermaphroditism	51259	TMEM216	ORPHA:564
HP:0010459	True hermaphroditism	57545	CC2D2A	ORPHA:564
HP:0010459	True hermaphroditism	79583	TMEM231	ORPHA:564
HP:0010459	True hermaphroditism	91147	TMEM67	ORPHA:564
HP:0010459	True hermaphroditism	79770	TXNDC15	ORPHA:564
HP:0010459	True hermaphroditism	27077	B9D1	ORPHA:564
HP:0010459	True hermaphroditism	23322	RPGRIP1L	ORPHA:564
HP:0010459	True hermaphroditism	54903	MKS1	ORPHA:564
HP:0010459	True hermaphroditism	65062	TMEM237	ORPHA:564
HP:0010459	True hermaphroditism	7490	WT1	OMIM:194080
HP:0030886	Abnormal lymphocyte apoptosis	843	CASP10	OMIM:603909
HP:0030886	Abnormal lymphocyte apoptosis	3845	KRAS	OMIM:614470
HP:0030886	Abnormal lymphocyte apoptosis	4893	NRAS	OMIM:614470
HP:0030886	Abnormal lymphocyte apoptosis	355	FAS	OMIM:601859
HP:0030886	Abnormal lymphocyte apoptosis	356	FASLG	OMIM:601859
HP:0030886	Abnormal lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0030884	Gastrojejunal tube feeding in infancy	2019	EN1	OMIM:619218
HP:0030884	Gastrojejunal tube feeding in infancy	25828	TXN2	ORPHA:478029
HP:0030884	Gastrojejunal tube feeding in infancy	126792	B3GALT6	OMIM:609465
HP:0030889	Congenital shortened small intestine	79827	CLMP	OMIM:615237
HP:0030889	Congenital shortened small intestine	2294	FOXF1	OMIM:265380
HP:0030889	Congenital shortened small intestine	2316	FLNA	OMIM:300048
HP:0007400	Irregular hyperpigmentation	3479	IGF1	ORPHA:73272
HP:0007400	Irregular hyperpigmentation	8367	H4C5	OMIM:619950
HP:0007400	Irregular hyperpigmentation	8216	LZTR1	OMIM:616564
HP:0007400	Irregular hyperpigmentation	8216	LZTR1	OMIM:605275
HP:0007400	Irregular hyperpigmentation	4683	NBN	OMIM:251260
HP:0007400	Irregular hyperpigmentation	55240	STEAP3	OMIM:615234
HP:0007400	Irregular hyperpigmentation	55240	STEAP3	ORPHA:300298
HP:0007400	Irregular hyperpigmentation	55654	TMEM127	OMIM:171300
HP:0007400	Irregular hyperpigmentation	5979	RET	OMIM:171300
HP:0007400	Irregular hyperpigmentation	6390	SDHB	OMIM:171300
HP:0007400	Irregular hyperpigmentation	6392	SDHD	OMIM:171300
HP:0007400	Irregular hyperpigmentation	4149	MAX	OMIM:171300
HP:0007400	Irregular hyperpigmentation	7428	VHL	OMIM:171300
HP:0007400	Irregular hyperpigmentation	161742	SPRED1	OMIM:611431
HP:0007400	Irregular hyperpigmentation	324	APC	ORPHA:99818
HP:0007400	Irregular hyperpigmentation	26040	SETBP1	ORPHA:436151
HP:0007400	Irregular hyperpigmentation	64682	ANAPC1	OMIM:618625
HP:0007400	Irregular hyperpigmentation	10060	ABCC9	OMIM:619719
HP:0007400	Irregular hyperpigmentation	84570	COL25A1	ORPHA:91411
HP:0007400	Irregular hyperpigmentation	79776	ZFHX4	ORPHA:91411
HP:0007400	Irregular hyperpigmentation	6548	SLC9A1	OMIM:616291
HP:0007400	Irregular hyperpigmentation	197131	UBR1	OMIM:243800
HP:0007400	Irregular hyperpigmentation	2175	FANCA	OMIM:227650
HP:0007400	Irregular hyperpigmentation	55215	FANCI	OMIM:609053
HP:0007400	Irregular hyperpigmentation	472	ATM	OMIM:208900
HP:0007400	Irregular hyperpigmentation	2188	FANCF	OMIM:603467
HP:0007400	Irregular hyperpigmentation	284058	KANSL1	ORPHA:363958
HP:0007400	Irregular hyperpigmentation	284058	KANSL1	ORPHA:363965
HP:0007400	Irregular hyperpigmentation	3481	IGF2	OMIM:180860
HP:0007400	Irregular hyperpigmentation	3481	IGF2	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	2178	FANCE	OMIM:600901
HP:0007400	Irregular hyperpigmentation	7156	TOP3A	OMIM:618097
HP:0007400	Irregular hyperpigmentation	2475	MTOR	ORPHA:457485
HP:0007400	Irregular hyperpigmentation	2475	MTOR	OMIM:616638
HP:0007400	Irregular hyperpigmentation	6663	SOX10	OMIM:611584
HP:0007400	Irregular hyperpigmentation	51729	WBP11	OMIM:619227
HP:0007400	Irregular hyperpigmentation	5116	PCNT	OMIM:210720
HP:0007400	Irregular hyperpigmentation	4771	NF2	OMIM:101000
HP:0007400	Irregular hyperpigmentation	699	BUB1	OMIM:620183
HP:0007400	Irregular hyperpigmentation	1186	CLCN7	OMIM:618541
HP:0007400	Irregular hyperpigmentation	1387	CREBBP	OMIM:180849
HP:0007400	Irregular hyperpigmentation	2033	EP300	OMIM:180849
HP:0007400	Irregular hyperpigmentation	7249	TSC2	OMIM:613254
HP:0007400	Irregular hyperpigmentation	3458	IFNG	OMIM:613254
HP:0007400	Irregular hyperpigmentation	10283	CWC27	OMIM:250410
HP:0007400	Irregular hyperpigmentation	10283	CWC27	ORPHA:166035
HP:0007400	Irregular hyperpigmentation	8936	WASF1	OMIM:618707
HP:0007400	Irregular hyperpigmentation	55719	SLF2	OMIM:620184
HP:0007400	Irregular hyperpigmentation	285590	SH3PXD2B	OMIM:249420
HP:0007400	Irregular hyperpigmentation	9702	CEP57	OMIM:614114
HP:0007400	Irregular hyperpigmentation	1028	CDKN1C	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	5324	PLAG1	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	8091	HMGA2	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	641	BLM	OMIM:210900
HP:0007400	Irregular hyperpigmentation	641	BLM	ORPHA:125
HP:0007400	Irregular hyperpigmentation	5500	PPP1CB	OMIM:617506
HP:0007400	Irregular hyperpigmentation	7248	TSC1	OMIM:191100
HP:0007400	Irregular hyperpigmentation	79728	PALB2	OMIM:610832
HP:0007400	Irregular hyperpigmentation	675	BRCA2	OMIM:605724
HP:0007400	Irregular hyperpigmentation	2177	FANCD2	OMIM:227646
HP:0007400	Irregular hyperpigmentation	2176	FANCC	OMIM:227645
HP:0007400	Irregular hyperpigmentation	55120	FANCL	OMIM:614083
HP:0007400	Irregular hyperpigmentation	9968	MED12	OMIM:300895
HP:0007400	Irregular hyperpigmentation	4221	MEN1	OMIM:131100
HP:0007400	Irregular hyperpigmentation	9652	SKIC3	OMIM:222470
HP:0007400	Irregular hyperpigmentation	9652	SKIC3	ORPHA:84064
HP:0007400	Irregular hyperpigmentation	55023	PHIP	OMIM:617991
HP:0007400	Irregular hyperpigmentation	55023	PHIP	ORPHA:589905
HP:0007400	Irregular hyperpigmentation	1315	COPB1	OMIM:619255
HP:0007400	Irregular hyperpigmentation	84464	SLX4	OMIM:613951
HP:0007400	Irregular hyperpigmentation	157570	ESCO2	OMIM:268300
HP:0007400	Irregular hyperpigmentation	6595	SMARCA2	OMIM:601358
HP:0007400	Irregular hyperpigmentation	867	CBL	OMIM:613563
HP:0007400	Irregular hyperpigmentation	6499	SKIC2	ORPHA:84064
HP:0007400	Irregular hyperpigmentation	22907	DHX30	OMIM:617804
HP:0007400	Irregular hyperpigmentation	5426	POLE	OMIM:618336
HP:0007400	Irregular hyperpigmentation	8085	KMT2D	OMIM:147920
HP:0007400	Irregular hyperpigmentation	7403	KDM6A	OMIM:147920
HP:0007400	Irregular hyperpigmentation	25778	DSTYK	ORPHA:101003
HP:0007400	Irregular hyperpigmentation	25778	DSTYK	OMIM:270750
HP:0007400	Irregular hyperpigmentation	5573	PRKAR1A	OMIM:160980
HP:0007400	Irregular hyperpigmentation	5573	PRKAR1A	ORPHA:1359
HP:0007400	Irregular hyperpigmentation	5605	MAP2K2	OMIM:615280
HP:0007400	Irregular hyperpigmentation	5605	MAP2K2	ORPHA:1340
HP:0007400	Irregular hyperpigmentation	8036	SHOC2	OMIM:607721
HP:0007400	Irregular hyperpigmentation	5781	PTPN11	OMIM:151100
HP:0007400	Irregular hyperpigmentation	5781	PTPN11	ORPHA:500
HP:0007400	Irregular hyperpigmentation	5594	MAPK1	OMIM:619087
HP:0007400	Irregular hyperpigmentation	4893	NRAS	OMIM:613224
HP:0007400	Irregular hyperpigmentation	5894	RAF1	OMIM:611554
HP:0007400	Irregular hyperpigmentation	5894	RAF1	OMIM:611553
HP:0007400	Irregular hyperpigmentation	5894	RAF1	ORPHA:500
HP:0007400	Irregular hyperpigmentation	5604	MAP2K1	ORPHA:1340
HP:0007400	Irregular hyperpigmentation	3845	KRAS	ORPHA:1340
HP:0007400	Irregular hyperpigmentation	50940	PDE11A	ORPHA:1359
HP:0007400	Irregular hyperpigmentation	23141	ANKLE2	OMIM:616681
HP:0007400	Irregular hyperpigmentation	112858	TP53RK	OMIM:617730
HP:0007400	Irregular hyperpigmentation	3815	KIT	OMIM:154800
HP:0007400	Irregular hyperpigmentation	3815	KIT	ORPHA:79455
HP:0007400	Irregular hyperpigmentation	23135	KDM6B	OMIM:618505
HP:0007400	Irregular hyperpigmentation	5290	PIK3CA	ORPHA:60040
HP:0007400	Irregular hyperpigmentation	60	ACTB	ORPHA:64755
HP:0007400	Irregular hyperpigmentation	3569	IL6	OMIM:148000
HP:0007400	Irregular hyperpigmentation	4254	KITLG	OMIM:145250
HP:0007400	Irregular hyperpigmentation	4254	KITLG	OMIM:619947
HP:0007400	Irregular hyperpigmentation	2261	FGFR3	ORPHA:53271
HP:0007400	Irregular hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79397
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79399
HP:0007400	Irregular hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	56916	SMARCAD1	OMIM:129200
HP:0007400	Irregular hyperpigmentation	7507	XPA	OMIM:278700
HP:0007400	Irregular hyperpigmentation	7507	XPA	ORPHA:910
HP:0007400	Irregular hyperpigmentation	1161	ERCC8	ORPHA:90321
HP:0007400	Irregular hyperpigmentation	1161	ERCC8	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	2072	ERCC4	ORPHA:90321
HP:0007400	Irregular hyperpigmentation	2072	ERCC4	ORPHA:910
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	ORPHA:90321
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	OMIM:278800
HP:0007400	Irregular hyperpigmentation	2776	GNAQ	ORPHA:624
HP:0007400	Irregular hyperpigmentation	2067	ERCC1	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	4000	LMNA	ORPHA:740
HP:0007400	Irregular hyperpigmentation	10269	ZMPSTE24	ORPHA:740
HP:0007400	Irregular hyperpigmentation	50485	SMARCAL1	ORPHA:1830
HP:0007400	Irregular hyperpigmentation	50485	SMARCAL1	OMIM:242900
HP:0007400	Irregular hyperpigmentation	10058	ABCB6	OMIM:615402
HP:0007400	Irregular hyperpigmentation	10058	ABCB6	ORPHA:241
HP:0007400	Irregular hyperpigmentation	488	ATP2A2	ORPHA:218
HP:0007400	Irregular hyperpigmentation	488	ATP2A2	OMIM:124200
HP:0007400	Irregular hyperpigmentation	7132	TNFRSF1A	ORPHA:32960
HP:0007400	Irregular hyperpigmentation	2778	GNAS	ORPHA:2762
HP:0007400	Irregular hyperpigmentation	1536	CYBB	ORPHA:379
HP:0007400	Irregular hyperpigmentation	4688	NCF2	ORPHA:379
HP:0007400	Irregular hyperpigmentation	1535	CYBA	ORPHA:379
HP:0007400	Irregular hyperpigmentation	4689	NCF4	ORPHA:379
HP:0007400	Irregular hyperpigmentation	653361	NCF1	ORPHA:379
HP:0007400	Irregular hyperpigmentation	79415	CYBC1	ORPHA:379
HP:0007400	Irregular hyperpigmentation	8869	ST3GAL5	OMIM:609056
HP:0007400	Irregular hyperpigmentation	54	ACP5	OMIM:607944
HP:0007400	Irregular hyperpigmentation	716	C1S	ORPHA:75392
HP:0007400	Irregular hyperpigmentation	715	C1R	ORPHA:75392
HP:0007400	Irregular hyperpigmentation	3643	INSR	OMIM:246200
HP:0007400	Irregular hyperpigmentation	1663	DDX11	OMIM:613398
HP:0007400	Irregular hyperpigmentation	6794	STK11	OMIM:175200
HP:0007400	Irregular hyperpigmentation	5339	PLEC	ORPHA:79401
HP:0007400	Irregular hyperpigmentation	4313	MMP2	OMIM:259600
HP:0007400	Irregular hyperpigmentation	23328	SASH1	OMIM:618373
HP:0007400	Irregular hyperpigmentation	80169	CTC1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	26277	TINF2	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55651	NHP2	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	79650	USB1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55135	WRAP53	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	51750	RTEL1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	4869	NPM1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7012	TERC	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55505	NOP10	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	5073	PARN	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7015	TERT	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	1736	DKC1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7298	TYMS	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	10457	GPNMB	OMIM:617920
HP:0007400	Irregular hyperpigmentation	2697	GJA1	ORPHA:317
HP:0007400	Irregular hyperpigmentation	2707	GJB3	ORPHA:317
HP:0007400	Irregular hyperpigmentation	2531	KDSR	ORPHA:317
HP:0007400	Irregular hyperpigmentation	127534	GJB4	ORPHA:317
HP:0007400	Irregular hyperpigmentation	3861	KRT14	ORPHA:79397
HP:0007400	Irregular hyperpigmentation	3861	KRT14	ORPHA:79399
HP:0007400	Irregular hyperpigmentation	4763	NF1	ORPHA:97685
HP:0007400	Irregular hyperpigmentation	2068	ERCC2	ORPHA:910
HP:0007400	Irregular hyperpigmentation	2071	ERCC3	ORPHA:910
HP:0007400	Irregular hyperpigmentation	7508	XPC	ORPHA:910
HP:0007400	Irregular hyperpigmentation	1643	DDB2	ORPHA:910
HP:0007400	Irregular hyperpigmentation	2073	ERCC5	ORPHA:910
HP:0007400	Irregular hyperpigmentation	10484	SEC23A	OMIM:607812
HP:0007400	Irregular hyperpigmentation	1130	LYST	ORPHA:167
HP:0007400	Irregular hyperpigmentation	79644	SRD5A3	ORPHA:324737
HP:0007400	Irregular hyperpigmentation	5566	PRKACA	ORPHA:189439
HP:0007400	Irregular hyperpigmentation	8622	PDE8B	ORPHA:189439
HP:0007400	Irregular hyperpigmentation	8815	BANF1	OMIM:614008
HP:0007400	Irregular hyperpigmentation	55612	FERMT1	OMIM:173650
HP:0007400	Irregular hyperpigmentation	9419	CRIPT	OMIM:615789
HP:0007400	Irregular hyperpigmentation	1027	CDKN1B	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1026	CDKN1A	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1030	CDKN2B	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1031	CDKN2C	ORPHA:652
HP:0007400	Irregular hyperpigmentation	57167	SALL4	ORPHA:233
HP:0007400	Irregular hyperpigmentation	9935	MAFB	ORPHA:233
HP:0007400	Irregular hyperpigmentation	1123	CHN1	ORPHA:233
HP:0007400	Irregular hyperpigmentation	1493	CTLA4	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	1493	CTLA4	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	940	CD28	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	940	CD28	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	7133	TNFRSF1B	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	7133	TNFRSF1B	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	4854	NOTCH3	ORPHA:2591
HP:0007400	Irregular hyperpigmentation	5159	PDGFRB	ORPHA:2591
HP:0007400	Irregular hyperpigmentation	6389	SDHA	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	6391	SDHC	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	5156	PDGFRA	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	3265	HRAS	ORPHA:2612
HP:0007400	Irregular hyperpigmentation	340024	SLC6A19	ORPHA:2116
HP:0007400	Irregular hyperpigmentation	57393	CLTRN	ORPHA:2116
HP:0007400	Irregular hyperpigmentation	5728	PTEN	ORPHA:109
HP:0007400	Irregular hyperpigmentation	5728	PTEN	ORPHA:744
HP:0007400	Irregular hyperpigmentation	5728	PTEN	ORPHA:2969
HP:0007400	Irregular hyperpigmentation	2767	GNA11	ORPHA:428
HP:0007400	Irregular hyperpigmentation	846	CASR	ORPHA:428
HP:0007400	Irregular hyperpigmentation	672	BRCA1	ORPHA:84
HP:0007400	Irregular hyperpigmentation	10459	MAD2L2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	7516	XRCC2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	29089	UBE2T	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2187	FANCB	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2189	FANCG	ORPHA:84
HP:0007400	Irregular hyperpigmentation	5888	RAD51	ORPHA:84
HP:0007400	Irregular hyperpigmentation	5889	RAD51C	ORPHA:84
HP:0007400	Irregular hyperpigmentation	55159	RFWD3	ORPHA:84
HP:0007400	Irregular hyperpigmentation	83990	BRIP1	ORPHA:84
HP:0007400	Irregular hyperpigmentation	57697	FANCM	ORPHA:84
HP:0007400	Irregular hyperpigmentation	1776	DNASE1L3	ORPHA:36412
HP:0007400	Irregular hyperpigmentation	79092	CARD14	ORPHA:2897
HP:0007400	Irregular hyperpigmentation	207	AKT1	ORPHA:744
HP:0007400	Irregular hyperpigmentation	3081	HGD	ORPHA:56
HP:0007400	Irregular hyperpigmentation	8517	IKBKG	ORPHA:464
HP:0007400	Irregular hyperpigmentation	1294	COL7A1	ORPHA:89842
HP:0007400	Irregular hyperpigmentation	203068	TUBB	ORPHA:2505
HP:0007400	Irregular hyperpigmentation	10982	MAPRE2	ORPHA:2505
HP:0007400	Irregular hyperpigmentation	3930	LBR	ORPHA:779
HP:0007400	Irregular hyperpigmentation	1281	COL3A1	ORPHA:2500
HP:0007400	Irregular hyperpigmentation	11005	SPINK5	ORPHA:634
HP:0007400	Irregular hyperpigmentation	1308	COL17A1	OMIM:619787
HP:0007400	Irregular hyperpigmentation	2783	GNB2	OMIM:619503
HP:0007400	Irregular hyperpigmentation	6418	SET	OMIM:618106
HP:0007400	Irregular hyperpigmentation	5932	RBBP8	OMIM:606744
HP:0007400	Irregular hyperpigmentation	9319	TRIP13	OMIM:617598
HP:0007400	Irregular hyperpigmentation	673	BRAF	OMIM:613707
HP:0007400	Irregular hyperpigmentation	2260	FGFR1	OMIM:613001
HP:0007400	Irregular hyperpigmentation	4436	MSH2	OMIM:619096
HP:0007400	Irregular hyperpigmentation	2956	MSH6	OMIM:619097
HP:0007400	Irregular hyperpigmentation	5980	REV3L	ORPHA:570
HP:0007400	Irregular hyperpigmentation	23129	PLXND1	ORPHA:570
HP:0007400	Irregular hyperpigmentation	11253	MAN1B1	ORPHA:397941
HP:0007400	Irregular hyperpigmentation	8242	KDM5C	ORPHA:85279
HP:0007400	Irregular hyperpigmentation	11322	TMC6	ORPHA:302
HP:0007400	Irregular hyperpigmentation	3574	IL7	ORPHA:302
HP:0007400	Irregular hyperpigmentation	147138	TMC8	ORPHA:302
HP:0007400	Irregular hyperpigmentation	10519	CIB1	ORPHA:302
HP:0007400	Irregular hyperpigmentation	4292	MLH1	OMIM:276300
HP:0007400	Irregular hyperpigmentation	10483	SEC23B	ORPHA:201
HP:0007400	Irregular hyperpigmentation	205717	USF3	ORPHA:201
HP:0007400	Irregular hyperpigmentation	100144748	KLLN	ORPHA:201
HP:0007400	Irregular hyperpigmentation	117581	TWIST2	ORPHA:1807
HP:0007400	Irregular hyperpigmentation	8626	TP63	ORPHA:69085
HP:0007400	Irregular hyperpigmentation	9184	BUB3	ORPHA:1052
HP:0007400	Irregular hyperpigmentation	701	BUB1B	ORPHA:1052
HP:0007400	Irregular hyperpigmentation	5395	PMS2	OMIM:619101
HP:0007400	Irregular hyperpigmentation	473	RERE	OMIM:616975
HP:0007400	Irregular hyperpigmentation	151188	ARL6IP6	ORPHA:1556
HP:0007400	Irregular hyperpigmentation	54539	NDUFB11	OMIM:300952
HP:0007400	Irregular hyperpigmentation	64840	PORCN	OMIM:305600
HP:0007400	Irregular hyperpigmentation	6117	RPA1	OMIM:619767
HP:0007400	Irregular hyperpigmentation	5422	POLA1	OMIM:301220
HP:0007400	Irregular hyperpigmentation	7157	TP53	OMIM:618165
HP:0007400	Irregular hyperpigmentation	374969	SVBP	OMIM:618569
HP:0007400	Irregular hyperpigmentation	215	ABCD1	ORPHA:139399
HP:0007401	Macular atrophy	2202	EFEMP1	ORPHA:75376
HP:0007401	Macular atrophy	3075	CFH	ORPHA:75376
HP:0007401	Macular atrophy	3426	CFI	ORPHA:75376
HP:0007401	Macular atrophy	6785	ELOVL4	OMIM:600110
HP:0007401	Macular atrophy	57724	EPG5	OMIM:242840
HP:0007401	Macular atrophy	26121	PRPF31	OMIM:600138
HP:0007401	Macular atrophy	22999	RIMS1	OMIM:603649
HP:0007401	Macular atrophy	84839	RAX2	OMIM:610381
HP:0007401	Macular atrophy	9785	DHX38	OMIM:618220
HP:0007401	Macular atrophy	7867	MAPKAPK3	OMIM:617111
HP:0007401	Macular atrophy	128338	DRAM2	OMIM:616502
HP:0007401	Macular atrophy	23568	ARL2BP	OMIM:615434
HP:0007401	Macular atrophy	4901	NRL	OMIM:613750
HP:0007401	Macular atrophy	8565	YARS1	OMIM:619418
HP:0007401	Macular atrophy	157657	CFAP418	OMIM:614500
HP:0007401	Macular atrophy	54585	LZTFL1	OMIM:615994
HP:0007401	Macular atrophy	57728	WDR19	OMIM:616307
HP:0007401	Macular atrophy	9187	SLC24A1	OMIM:613830
HP:0007401	Macular atrophy	26504	CNNM4	OMIM:217080
HP:0007401	Macular atrophy	6533	SLC6A6	OMIM:145350
HP:0007401	Macular atrophy	6247	RS1	OMIM:312700
HP:0007401	Macular atrophy	6100	RP9	OMIM:180104
HP:0007401	Macular atrophy	2978	GUCA1A	OMIM:602093
HP:0007401	Macular atrophy	2978	GUCA1A	ORPHA:75377
HP:0007401	Macular atrophy	64802	NMNAT1	OMIM:608553
HP:0007401	Macular atrophy	64802	NMNAT1	OMIM:619260
HP:0007401	Macular atrophy	4990	SIX6	OMIM:212550
HP:0007401	Macular atrophy	23746	AIPL1	OMIM:604393
HP:0007401	Macular atrophy	10733	PLK4	OMIM:616171
HP:0007401	Macular atrophy	3000	GUCY2D	OMIM:601777
HP:0007401	Macular atrophy	3000	GUCY2D	ORPHA:75377
HP:0007401	Macular atrophy	5961	PRPH2	ORPHA:52427
HP:0007401	Macular atrophy	5961	PRPH2	OMIM:608161
HP:0007401	Macular atrophy	5961	PRPH2	ORPHA:75377
HP:0007401	Macular atrophy	6017	RLBP1	ORPHA:52427
HP:0007401	Macular atrophy	6010	RHO	ORPHA:52427
HP:0007401	Macular atrophy	5959	RDH5	ORPHA:52427
HP:0007401	Macular atrophy	9742	IFT140	OMIM:617781
HP:0007401	Macular atrophy	114902	C1QTNF5	ORPHA:67042
HP:0007401	Macular atrophy	2629	GBA1	OMIM:230800
HP:0007401	Macular atrophy	3098	HK1	OMIM:617460
HP:0007401	Macular atrophy	5130	PCYT1A	ORPHA:85167
HP:0007401	Macular atrophy	10461	MERTK	OMIM:613862
HP:0007401	Macular atrophy	22926	ATF6	OMIM:616517
HP:0007401	Macular atrophy	169522	KCNV2	OMIM:610356
HP:0007401	Macular atrophy	4982	TNFRSF11B	OMIM:239000
HP:0007401	Macular atrophy	3105	HLA-A	ORPHA:179
HP:0007401	Macular atrophy	6452	SH3BP2	OMIM:118400
HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	5116	PCNT	OMIM:210720
HP:0007403	Hypertrophy of skin of soles	207	AKT1	OMIM:176920
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	3848	KRT1	OMIM:600962
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	3848	KRT1	ORPHA:530838
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	57152	SLURP1	ORPHA:87503
HP:0000240	Abnormality of skull size	2517	FUCA1	OMIM:230000
HP:0000240	Abnormality of skull size	4882	NPR2	OMIM:602875
HP:0000240	Abnormality of skull size	9719	ADAMTSL2	OMIM:231050
HP:0000240	Abnormality of skull size	3481	IGF2	OMIM:180860
HP:0000240	Abnormality of skull size	1718	DHCR24	OMIM:602398
HP:0000240	Abnormality of skull size	1718	DHCR24	ORPHA:35107
HP:0000240	Abnormality of skull size	4524	MTHFR	ORPHA:395
HP:0000240	Abnormality of skull size	4524	MTHFR	OMIM:236250
HP:0000240	Abnormality of skull size	23394	ADNP	ORPHA:404448
HP:0000240	Abnormality of skull size	51399	TRAPPC4	OMIM:618741
HP:0000240	Abnormality of skull size	1139	CHRNA7	ORPHA:199318
HP:0000240	Abnormality of skull size	51569	UFM1	OMIM:617899
HP:0000240	Abnormality of skull size	10059	DNM1L	OMIM:614388
HP:0000240	Abnormality of skull size	6228	RPS23	OMIM:617412
HP:0000240	Abnormality of skull size	7360	UGP2	OMIM:618744
HP:0000240	Abnormality of skull size	5932	RBBP8	OMIM:606744
HP:0000240	Abnormality of skull size	5932	RBBP8	ORPHA:808
HP:0000240	Abnormality of skull size	2073	ERCC5	OMIM:616570
HP:0000240	Abnormality of skull size	2073	ERCC5	ORPHA:1466
HP:0000240	Abnormality of skull size	2073	ERCC5	ORPHA:220295
HP:0000240	Abnormality of skull size	2073	ERCC5	OMIM:278780
HP:0000240	Abnormality of skull size	2073	ERCC5	ORPHA:910
HP:0000240	Abnormality of skull size	283489	CHAMP1	OMIM:616579
HP:0000240	Abnormality of skull size	478	ATP1A3	OMIM:619606
HP:0000240	Abnormality of skull size	478	ATP1A3	ORPHA:442835
HP:0000240	Abnormality of skull size	166378	AFG2A	OMIM:616577
HP:0000240	Abnormality of skull size	477	ATP1A2	OMIM:619602
HP:0000240	Abnormality of skull size	477	ATP1A2	ORPHA:442835
HP:0000240	Abnormality of skull size	6595	SMARCA2	ORPHA:2728
HP:0000240	Abnormality of skull size	6595	SMARCA2	OMIM:601358
HP:0000240	Abnormality of skull size	6595	SMARCA2	ORPHA:3051
HP:0000240	Abnormality of skull size	84520	GON7	OMIM:619603
HP:0000240	Abnormality of skull size	79693	YRDC	OMIM:619609
HP:0000240	Abnormality of skull size	5832	ALDH18A1	OMIM:616586
HP:0000240	Abnormality of skull size	5832	ALDH18A1	ORPHA:90348
HP:0000240	Abnormality of skull size	5832	ALDH18A1	ORPHA:447760
HP:0000240	Abnormality of skull size	5832	ALDH18A1	OMIM:616603
HP:0000240	Abnormality of skull size	6884	TAF13	OMIM:617432
HP:0000240	Abnormality of skull size	6884	TAF13	ORPHA:2512
HP:0000240	Abnormality of skull size	79029	AFG2B	OMIM:619616
HP:0000240	Abnormality of skull size	10111	RAD50	OMIM:613078
HP:0000240	Abnormality of skull size	55681	SCYL2	OMIM:618766
HP:0000240	Abnormality of skull size	85465	SELENOI	OMIM:618768
HP:0000240	Abnormality of skull size	85465	SELENOI	ORPHA:506353
HP:0000240	Abnormality of skull size	5191	PEX7	OMIM:215100
HP:0000240	Abnormality of skull size	3339	HSPG2	ORPHA:1865
HP:0000240	Abnormality of skull size	3339	HSPG2	OMIM:224410
HP:0000240	Abnormality of skull size	3339	HSPG2	ORPHA:800
HP:0000240	Abnormality of skull size	3339	HSPG2	ORPHA:1606
HP:0000240	Abnormality of skull size	171023	ASXL1	ORPHA:97297
HP:0000240	Abnormality of skull size	171023	ASXL1	OMIM:605039
HP:0000240	Abnormality of skull size	5813	PURA	ORPHA:438216
HP:0000240	Abnormality of skull size	89910	UBE3B	ORPHA:2707
HP:0000240	Abnormality of skull size	89910	UBE3B	OMIM:244450
HP:0000240	Abnormality of skull size	5373	PMM2	OMIM:212065
HP:0000240	Abnormality of skull size	1499	CTNNB1	ORPHA:404473
HP:0000240	Abnormality of skull size	1499	CTNNB1	ORPHA:891
HP:0000240	Abnormality of skull size	55131	RBM28	ORPHA:157954
HP:0000240	Abnormality of skull size	55131	RBM28	OMIM:612079
HP:0000240	Abnormality of skull size	2072	ERCC4	OMIM:615272
HP:0000240	Abnormality of skull size	2072	ERCC4	ORPHA:84
HP:0000240	Abnormality of skull size	2072	ERCC4	ORPHA:220295
HP:0000240	Abnormality of skull size	2072	ERCC4	OMIM:610965
HP:0000240	Abnormality of skull size	2072	ERCC4	ORPHA:910
HP:0000240	Abnormality of skull size	2072	ERCC4	OMIM:278760
HP:0000240	Abnormality of skull size	55768	NGLY1	OMIM:615273
HP:0000240	Abnormality of skull size	55621	TRMT1	OMIM:618302
HP:0000240	Abnormality of skull size	6905	TBCE	OMIM:241410
HP:0000240	Abnormality of skull size	6905	TBCE	ORPHA:2323
HP:0000240	Abnormality of skull size	6905	TBCE	ORPHA:93324
HP:0000240	Abnormality of skull size	51633	OTUD6B	OMIM:617452
HP:0000240	Abnormality of skull size	51633	OTUD6B	ORPHA:505237
HP:0000240	Abnormality of skull size	9289	ADGRG1	ORPHA:101070
HP:0000240	Abnormality of skull size	9289	ADGRG1	ORPHA:98889
HP:0000240	Abnormality of skull size	5728	PTEN	ORPHA:101070
HP:0000240	Abnormality of skull size	5727	PTCH1	OMIM:610828
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:280195
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:220386
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:280200
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:93926
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:93924
HP:0000240	Abnormality of skull size	5727	PTCH1	ORPHA:93925
HP:0000240	Abnormality of skull size	2736	GLI2	OMIM:610829
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:280195
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:220386
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:280200
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:93926
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:93924
HP:0000240	Abnormality of skull size	2736	GLI2	ORPHA:93925
HP:0000240	Abnormality of skull size	79718	TBL1XR1	OMIM:602342
HP:0000240	Abnormality of skull size	54828	BCAS3	OMIM:619641
HP:0000240	Abnormality of skull size	6305	SBF1	OMIM:615284
HP:0000240	Abnormality of skull size	3800	KIF5C	OMIM:615282
HP:0000240	Abnormality of skull size	2232	FDXR	ORPHA:543470
HP:0000240	Abnormality of skull size	7358	UGDH	OMIM:618792
HP:0000240	Abnormality of skull size	113179	ADAT3	OMIM:615286
HP:0000240	Abnormality of skull size	113179	ADAT3	ORPHA:363528
HP:0000240	Abnormality of skull size	2904	GRIN2B	OMIM:616139
HP:0000240	Abnormality of skull size	2904	GRIN2B	OMIM:613970
HP:0000240	Abnormality of skull size	200424	TET3	OMIM:618798
HP:0000240	Abnormality of skull size	79971	WLS	OMIM:619648
HP:0000240	Abnormality of skull size	79728	PALB2	OMIM:610832
HP:0000240	Abnormality of skull size	79728	PALB2	ORPHA:84
HP:0000240	Abnormality of skull size	56975	FAM20C	ORPHA:1832
HP:0000240	Abnormality of skull size	56975	FAM20C	OMIM:259775
HP:0000240	Abnormality of skull size	5917	RARS1	OMIM:616140
HP:0000240	Abnormality of skull size	5917	RARS1	ORPHA:438114
HP:0000240	Abnormality of skull size	54916	TMEM260	OMIM:617478
HP:0000240	Abnormality of skull size	25836	NIPBL	OMIM:122470
HP:0000240	Abnormality of skull size	25836	NIPBL	ORPHA:199
HP:0000240	Abnormality of skull size	23499	MACF1	OMIM:618325
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	ORPHA:1824
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	ORPHA:353298
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	OMIM:226960
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	OMIM:210710
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	OMIM:616651
HP:0000240	Abnormality of skull size	100151683	RNU4ATAC	ORPHA:2636
HP:0000240	Abnormality of skull size	58497	PRUNE1	OMIM:617481
HP:0000240	Abnormality of skull size	58497	PRUNE1	ORPHA:544469
HP:0000240	Abnormality of skull size	120	ADD3	OMIM:617008
HP:0000240	Abnormality of skull size	5426	POLE	OMIM:618336
HP:0000240	Abnormality of skull size	3480	IGF1R	ORPHA:73273
HP:0000240	Abnormality of skull size	3480	IGF1R	OMIM:270450
HP:0000240	Abnormality of skull size	3479	IGF1	ORPHA:73272
HP:0000240	Abnormality of skull size	3479	IGF1	OMIM:608747
HP:0000240	Abnormality of skull size	3155	HMGCL	ORPHA:20
HP:0000240	Abnormality of skull size	3155	HMGCL	OMIM:246450
HP:0000240	Abnormality of skull size	2775	GNAO1	OMIM:617493
HP:0000240	Abnormality of skull size	2775	GNAO1	ORPHA:1934
HP:0000240	Abnormality of skull size	10785	WDR4	OMIM:618346
HP:0000240	Abnormality of skull size	10785	WDR4	OMIM:618347
HP:0000240	Abnormality of skull size	10785	WDR4	ORPHA:2065
HP:0000240	Abnormality of skull size	4598	MVK	ORPHA:29
HP:0000240	Abnormality of skull size	4598	MVK	OMIM:610377
HP:0000240	Abnormality of skull size	54517	PUS7	OMIM:618342
HP:0000240	Abnormality of skull size	1798	DPAGT1	OMIM:608093
HP:0000240	Abnormality of skull size	1798	DPAGT1	ORPHA:86309
HP:0000240	Abnormality of skull size	57122	NUP107	OMIM:618348
HP:0000240	Abnormality of skull size	57122	NUP107	ORPHA:243
HP:0000240	Abnormality of skull size	57122	NUP107	ORPHA:2065
HP:0000240	Abnormality of skull size	55746	NUP133	OMIM:618349
HP:0000240	Abnormality of skull size	55746	NUP133	ORPHA:2065
HP:0000240	Abnormality of skull size	56623	INPP5E	OMIM:213300
HP:0000240	Abnormality of skull size	56945	MRPS22	OMIM:611719
HP:0000240	Abnormality of skull size	56945	MRPS22	ORPHA:243
HP:0000240	Abnormality of skull size	27125	AFF4	ORPHA:444077
HP:0000240	Abnormality of skull size	27125	AFF4	OMIM:616368
HP:0000240	Abnormality of skull size	5575	PRKAR1B	OMIM:619680
HP:0000240	Abnormality of skull size	10733	PLK4	OMIM:616171
HP:0000240	Abnormality of skull size	10733	PLK4	ORPHA:808
HP:0000240	Abnormality of skull size	10733	PLK4	ORPHA:2518
HP:0000240	Abnormality of skull size	2972	BRF1	ORPHA:444072
HP:0000240	Abnormality of skull size	2972	BRF1	OMIM:616202
HP:0000240	Abnormality of skull size	5515	PPP2CA	OMIM:618354
HP:0000240	Abnormality of skull size	23114	NFASC	OMIM:618356
HP:0000240	Abnormality of skull size	154881	KCTD7	OMIM:611726
HP:0000240	Abnormality of skull size	154881	KCTD7	ORPHA:263516
HP:0000240	Abnormality of skull size	29925	GMPPB	ORPHA:370968
HP:0000240	Abnormality of skull size	29925	GMPPB	ORPHA:370959
HP:0000240	Abnormality of skull size	29925	GMPPB	ORPHA:363623
HP:0000240	Abnormality of skull size	29925	GMPPB	OMIM:615350
HP:0000240	Abnormality of skull size	29925	GMPPB	OMIM:615351
HP:0000240	Abnormality of skull size	29925	GMPPB	OMIM:615352
HP:0000240	Abnormality of skull size	79147	FKRP	ORPHA:370968
HP:0000240	Abnormality of skull size	79147	FKRP	ORPHA:370980
HP:0000240	Abnormality of skull size	79147	FKRP	ORPHA:370959
HP:0000240	Abnormality of skull size	79147	FKRP	OMIM:606612
HP:0000240	Abnormality of skull size	79147	FKRP	OMIM:236670
HP:0000240	Abnormality of skull size	79147	FKRP	ORPHA:899
HP:0000240	Abnormality of skull size	29954	POMT2	ORPHA:370968
HP:0000240	Abnormality of skull size	29954	POMT2	ORPHA:370959
HP:0000240	Abnormality of skull size	29954	POMT2	OMIM:236670
HP:0000240	Abnormality of skull size	29954	POMT2	ORPHA:899
HP:0000240	Abnormality of skull size	29954	POMT2	OMIM:613150
HP:0000240	Abnormality of skull size	29954	POMT2	OMIM:613156
HP:0000240	Abnormality of skull size	9215	LARGE1	ORPHA:370968
HP:0000240	Abnormality of skull size	9215	LARGE1	OMIM:236670
HP:0000240	Abnormality of skull size	9215	LARGE1	ORPHA:899
HP:0000240	Abnormality of skull size	10585	POMT1	ORPHA:370968
HP:0000240	Abnormality of skull size	10585	POMT1	ORPHA:370980
HP:0000240	Abnormality of skull size	10585	POMT1	ORPHA:370959
HP:0000240	Abnormality of skull size	10585	POMT1	OMIM:609308
HP:0000240	Abnormality of skull size	10585	POMT1	OMIM:236670
HP:0000240	Abnormality of skull size	10585	POMT1	ORPHA:899
HP:0000240	Abnormality of skull size	10585	POMT1	ORPHA:86812
HP:0000240	Abnormality of skull size	10585	POMT1	OMIM:613155
HP:0000240	Abnormality of skull size	55777	MBD5	OMIM:156200
HP:0000240	Abnormality of skull size	55777	MBD5	ORPHA:228402
HP:0000240	Abnormality of skull size	347733	TUBB2B	ORPHA:467166
HP:0000240	Abnormality of skull size	347733	TUBB2B	ORPHA:300573
HP:0000240	Abnormality of skull size	347733	TUBB2B	OMIM:610031
HP:0000240	Abnormality of skull size	7846	TUBA1A	ORPHA:467166
HP:0000240	Abnormality of skull size	7846	TUBA1A	OMIM:611603
HP:0000240	Abnormality of skull size	7846	TUBA1A	ORPHA:171680
HP:0000240	Abnormality of skull size	10381	TUBB3	ORPHA:467166
HP:0000240	Abnormality of skull size	10381	TUBB3	OMIM:614039
HP:0000240	Abnormality of skull size	84340	GFM2	ORPHA:565624
HP:0000240	Abnormality of skull size	84340	GFM2	OMIM:618397
HP:0000240	Abnormality of skull size	10588	MTHFS	OMIM:618367
HP:0000240	Abnormality of skull size	22930	RAB3GAP1	OMIM:600118
HP:0000240	Abnormality of skull size	22930	RAB3GAP1	OMIM:619420
HP:0000240	Abnormality of skull size	22930	RAB3GAP1	ORPHA:2510
HP:0000240	Abnormality of skull size	22930	RAB3GAP1	ORPHA:1387
HP:0000240	Abnormality of skull size	2334	AFF2	OMIM:309548
HP:0000240	Abnormality of skull size	92255	LMBRD2	OMIM:619694
HP:0000240	Abnormality of skull size	7468	NSD2	OMIM:619695
HP:0000240	Abnormality of skull size	7468	NSD2	OMIM:194190
HP:0000240	Abnormality of skull size	7468	NSD2	ORPHA:280
HP:0000240	Abnormality of skull size	267010	RNU12	OMIM:620208
HP:0000240	Abnormality of skull size	3054	HCFC1	OMIM:309541
HP:0000240	Abnormality of skull size	201163	FLCN	OMIM:610883
HP:0000240	Abnormality of skull size	2019	EN1	OMIM:619218
HP:0000240	Abnormality of skull size	3431	SP110	OMIM:235550
HP:0000240	Abnormality of skull size	3431	SP110	ORPHA:79124
HP:0000240	Abnormality of skull size	51608	GET4	OMIM:620200
HP:0000240	Abnormality of skull size	7703	PCGF2	OMIM:618371
HP:0000240	Abnormality of skull size	23111	SPART	ORPHA:101000
HP:0000240	Abnormality of skull size	6390	SDHB	OMIM:619224
HP:0000240	Abnormality of skull size	11342	RNF13	OMIM:618379
HP:0000240	Abnormality of skull size	11342	RNF13	ORPHA:544503
HP:0000240	Abnormality of skull size	8802	SUCLG1	ORPHA:17
HP:0000240	Abnormality of skull size	4613	MYCN	OMIM:164280
HP:0000240	Abnormality of skull size	4613	MYCN	ORPHA:391641
HP:0000240	Abnormality of skull size	51729	WBP11	OMIM:619227
HP:0000240	Abnormality of skull size	6304	SATB1	OMIM:619228
HP:0000240	Abnormality of skull size	6304	SATB1	OMIM:619229
HP:0000240	Abnormality of skull size	2218	FKTN	ORPHA:370980
HP:0000240	Abnormality of skull size	2218	FKTN	OMIM:236670
HP:0000240	Abnormality of skull size	2218	FKTN	ORPHA:899
HP:0000240	Abnormality of skull size	729920	CRPPA	ORPHA:370980
HP:0000240	Abnormality of skull size	729920	CRPPA	ORPHA:899
HP:0000240	Abnormality of skull size	2697	GJA1	ORPHA:317
HP:0000240	Abnormality of skull size	2697	GJA1	OMIM:164200
HP:0000240	Abnormality of skull size	2707	GJB3	ORPHA:317
HP:0000240	Abnormality of skull size	2531	KDSR	ORPHA:317
HP:0000240	Abnormality of skull size	127534	GJB4	ORPHA:317
HP:0000240	Abnormality of skull size	3028	HSD17B10	ORPHA:391428
HP:0000240	Abnormality of skull size	8943	AP3D1	OMIM:617050
HP:0000240	Abnormality of skull size	9757	KMT2B	ORPHA:589618
HP:0000240	Abnormality of skull size	9757	KMT2B	OMIM:619934
HP:0000240	Abnormality of skull size	9757	KMT2B	OMIM:617284
HP:0000240	Abnormality of skull size	84265	POLR3GL	OMIM:619234
HP:0000240	Abnormality of skull size	134218	DNAJC21	OMIM:617052
HP:0000240	Abnormality of skull size	27107	ZBTB11	OMIM:618383
HP:0000240	Abnormality of skull size	8452	CUL3	OMIM:619239
HP:0000240	Abnormality of skull size	6608	SMO	OMIM:241800
HP:0000240	Abnormality of skull size	55624	POMGNT1	ORPHA:370959
HP:0000240	Abnormality of skull size	55624	POMGNT1	OMIM:253280
HP:0000240	Abnormality of skull size	55624	POMGNT1	ORPHA:899
HP:0000240	Abnormality of skull size	55624	POMGNT1	OMIM:613151
HP:0000240	Abnormality of skull size	51360	MBTPS2	OMIM:308205
HP:0000240	Abnormality of skull size	51360	MBTPS2	ORPHA:85284
HP:0000240	Abnormality of skull size	51360	MBTPS2	ORPHA:2273
HP:0000240	Abnormality of skull size	1457	CSNK2A1	OMIM:617062
HP:0000240	Abnormality of skull size	7204	TRIO	OMIM:617061
HP:0000240	Abnormality of skull size	203068	TUBB	OMIM:156610
HP:0000240	Abnormality of skull size	203068	TUBB	ORPHA:2505
HP:0000240	Abnormality of skull size	55640	FLVCR2	OMIM:225790
HP:0000240	Abnormality of skull size	23112	TNRC6B	OMIM:619243
HP:0000240	Abnormality of skull size	91875	TTC5	OMIM:619244
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:280195
HP:0000240	Abnormality of skull size	28514	DLL1	OMIM:618709
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:220386
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:280200
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:93926
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:93924
HP:0000240	Abnormality of skull size	28514	DLL1	ORPHA:93925
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:280195
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:220386
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:280200
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:93926
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:93924
HP:0000240	Abnormality of skull size	2253	FGF8	ORPHA:93925
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:280195
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:220386
HP:0000240	Abnormality of skull size	6496	SIX3	OMIM:157170
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:280200
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:93926
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:93924
HP:0000240	Abnormality of skull size	6496	SIX3	ORPHA:93925
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:280195
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:220386
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:280200
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:93926
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:93924
HP:0000240	Abnormality of skull size	7050	TGIF1	ORPHA:93925
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:280195
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:220386
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:280200
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:93926
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:93924
HP:0000240	Abnormality of skull size	4838	NODAL	ORPHA:93925
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:280195
HP:0000240	Abnormality of skull size	6469	SHH	OMIM:142945
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:220386
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:280200
HP:0000240	Abnormality of skull size	6469	SHH	OMIM:147250
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:93926
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:93924
HP:0000240	Abnormality of skull size	6469	SHH	ORPHA:93925
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:280195
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:220386
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:280200
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:93926
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:93924
HP:0000240	Abnormality of skull size	7546	ZIC2	ORPHA:93925
HP:0000240	Abnormality of skull size	7546	ZIC2	OMIM:609637
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:280195
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:220386
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:93926
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:93924
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:93925
HP:0000240	Abnormality of skull size	6491	STIL	ORPHA:2512
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:280195
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:220386
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:280200
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:93926
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:93924
HP:0000240	Abnormality of skull size	2619	GAS1	ORPHA:93925
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:280195
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:220386
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:280200
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:93926
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:93924
HP:0000240	Abnormality of skull size	84976	DISP1	ORPHA:93925
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:280195
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:220386
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:280200
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:93926
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:93924
HP:0000240	Abnormality of skull size	8928	FOXH1	ORPHA:93925
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:280195
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:220386
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:280200
HP:0000240	Abnormality of skull size	50937	CDON	OMIM:614226
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:93926
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:93924
HP:0000240	Abnormality of skull size	50937	CDON	ORPHA:93925
HP:0000240	Abnormality of skull size	8450	CUL4B	ORPHA:85293
HP:0000240	Abnormality of skull size	55717	WDR11	OMIM:620237
HP:0000240	Abnormality of skull size	93587	TRMT10A	ORPHA:391408
HP:0000240	Abnormality of skull size	93587	TRMT10A	OMIM:616033
HP:0000240	Abnormality of skull size	84919	PPP1R15B	ORPHA:391408
HP:0000240	Abnormality of skull size	84919	PPP1R15B	OMIM:616817
HP:0000240	Abnormality of skull size	201595	STT3B	ORPHA:370924
HP:0000240	Abnormality of skull size	201595	STT3B	OMIM:615597
HP:0000240	Abnormality of skull size	10436	EMG1	OMIM:211180
HP:0000240	Abnormality of skull size	10436	EMG1	ORPHA:1270
HP:0000240	Abnormality of skull size	6748	SSR4	ORPHA:370927
HP:0000240	Abnormality of skull size	6748	SSR4	OMIM:300934
HP:0000240	Abnormality of skull size	10084	PQBP1	OMIM:309500
HP:0000240	Abnormality of skull size	10084	PQBP1	ORPHA:93950
HP:0000240	Abnormality of skull size	10084	PQBP1	ORPHA:93946
HP:0000240	Abnormality of skull size	10084	PQBP1	ORPHA:93947
HP:0000240	Abnormality of skull size	10479	SLC9A6	ORPHA:85278
HP:0000240	Abnormality of skull size	10479	SLC9A6	OMIM:300243
HP:0000240	Abnormality of skull size	8242	KDM5C	ORPHA:85279
HP:0000240	Abnormality of skull size	8242	KDM5C	OMIM:300534
HP:0000240	Abnormality of skull size	1315	COPB1	OMIM:619255
HP:0000240	Abnormality of skull size	89970	RSPRY1	ORPHA:457395
HP:0000240	Abnormality of skull size	89970	RSPRY1	OMIM:616723
HP:0000240	Abnormality of skull size	8831	SYNGAP1	OMIM:612621
HP:0000240	Abnormality of skull size	8831	SYNGAP1	ORPHA:442835
HP:0000240	Abnormality of skull size	8831	SYNGAP1	ORPHA:1942
HP:0000240	Abnormality of skull size	8831	SYNGAP1	ORPHA:544254
HP:0000240	Abnormality of skull size	54187	NANS	OMIM:610442
HP:0000240	Abnormality of skull size	84464	SLX4	OMIM:613951
HP:0000240	Abnormality of skull size	84464	SLX4	ORPHA:84
HP:0000240	Abnormality of skull size	284058	KANSL1	OMIM:610443
HP:0000240	Abnormality of skull size	284058	KANSL1	ORPHA:363958
HP:0000240	Abnormality of skull size	284058	KANSL1	ORPHA:363965
HP:0000240	Abnormality of skull size	1968	EIF2S3	ORPHA:85282
HP:0000240	Abnormality of skull size	1968	EIF2S3	OMIM:300148
HP:0000240	Abnormality of skull size	81615	TMEM163	OMIM:620243
HP:0000240	Abnormality of skull size	64131	XYLT1	ORPHA:370930
HP:0000240	Abnormality of skull size	64131	XYLT1	OMIM:615777
HP:0000240	Abnormality of skull size	116150	NUS1	OMIM:617082
HP:0000240	Abnormality of skull size	116150	NUS1	ORPHA:442835
HP:0000240	Abnormality of skull size	55181	SMG8	OMIM:619268
HP:0000240	Abnormality of skull size	25886	POC1A	OMIM:614813
HP:0000240	Abnormality of skull size	3516	RBPJ	OMIM:614814
HP:0000240	Abnormality of skull size	5138	PDE2A	OMIM:619150
HP:0000240	Abnormality of skull size	128	ADH5	OMIM:619151
HP:0000240	Abnormality of skull size	64374	SIL1	OMIM:248800
HP:0000240	Abnormality of skull size	64374	SIL1	ORPHA:559
HP:0000240	Abnormality of skull size	6535	SLC6A8	OMIM:300352
HP:0000240	Abnormality of skull size	6535	SLC6A8	ORPHA:52503
HP:0000240	Abnormality of skull size	26960	NBEA	OMIM:619157
HP:0000240	Abnormality of skull size	6309	SC5D	ORPHA:46059
HP:0000240	Abnormality of skull size	6309	SC5D	OMIM:607330
HP:0000240	Abnormality of skull size	26128	KIFBP	OMIM:609460
HP:0000240	Abnormality of skull size	26128	KIFBP	ORPHA:66629
HP:0000240	Abnormality of skull size	5885	RAD21	OMIM:614701
HP:0000240	Abnormality of skull size	5885	RAD21	ORPHA:199
HP:0000240	Abnormality of skull size	781	CACNA2D1	OMIM:620149
HP:0000240	Abnormality of skull size	781	CACNA2D1	ORPHA:442835
HP:0000240	Abnormality of skull size	7518	XRCC4	ORPHA:99812
HP:0000240	Abnormality of skull size	7518	XRCC4	OMIM:616541
HP:0000240	Abnormality of skull size	3981	LIG4	ORPHA:99812
HP:0000240	Abnormality of skull size	3981	LIG4	ORPHA:235
HP:0000240	Abnormality of skull size	3981	LIG4	OMIM:606593
HP:0000240	Abnormality of skull size	80144	FRAS1	OMIM:219000
HP:0000240	Abnormality of skull size	80144	FRAS1	ORPHA:2052
HP:0000240	Abnormality of skull size	10093	ARPC4	OMIM:620141
HP:0000240	Abnormality of skull size	4784	NFIX	ORPHA:447980
HP:0000240	Abnormality of skull size	613	BCR	ORPHA:261330
HP:0000240	Abnormality of skull size	1399	CRKL	ORPHA:261330
HP:0000240	Abnormality of skull size	5594	MAPK1	ORPHA:261330
HP:0000240	Abnormality of skull size	5594	MAPK1	OMIM:619087
HP:0000240	Abnormality of skull size	9640	ZNF592	ORPHA:83472
HP:0000240	Abnormality of skull size	84942	WDR73	ORPHA:83472
HP:0000240	Abnormality of skull size	84942	WDR73	ORPHA:2065
HP:0000240	Abnormality of skull size	84942	WDR73	OMIM:251300
HP:0000240	Abnormality of skull size	224	ALDH3A2	ORPHA:816
HP:0000240	Abnormality of skull size	2314	FLII	ORPHA:819
HP:0000240	Abnormality of skull size	10743	RAI1	ORPHA:819
HP:0000240	Abnormality of skull size	10743	RAI1	ORPHA:1713
HP:0000240	Abnormality of skull size	10522	DEAF1	ORPHA:819
HP:0000240	Abnormality of skull size	10522	DEAF1	ORPHA:468620
HP:0000240	Abnormality of skull size	1717	DHCR7	ORPHA:818
HP:0000240	Abnormality of skull size	1717	DHCR7	OMIM:270400
HP:0000240	Abnormality of skull size	29072	SETD2	OMIM:620157
HP:0000240	Abnormality of skull size	29072	SETD2	OMIM:620155
HP:0000240	Abnormality of skull size	150468	CKAP2L	ORPHA:3255
HP:0000240	Abnormality of skull size	150468	CKAP2L	OMIM:272440
HP:0000240	Abnormality of skull size	3242	HPD	OMIM:140350
HP:0000240	Abnormality of skull size	338657	CENATAC	OMIM:620153
HP:0000240	Abnormality of skull size	25778	DSTYK	OMIM:270750
HP:0000240	Abnormality of skull size	25839	COG4	ORPHA:263501
HP:0000240	Abnormality of skull size	25839	COG4	OMIM:613489
HP:0000240	Abnormality of skull size	25839	COG4	ORPHA:85172
HP:0000240	Abnormality of skull size	56992	KIF15	ORPHA:261323
HP:0000240	Abnormality of skull size	56992	KIF15	OMIM:619981
HP:0000240	Abnormality of skull size	4718	NDUFC2	OMIM:619170
HP:0000240	Abnormality of skull size	1738	DLD	ORPHA:2394
HP:0000240	Abnormality of skull size	1738	DLD	OMIM:246900
HP:0000240	Abnormality of skull size	4001	LMNB1	OMIM:619179
HP:0000240	Abnormality of skull size	4001	LMNB1	ORPHA:2514
HP:0000240	Abnormality of skull size	92579	G6PC3	OMIM:612541
HP:0000240	Abnormality of skull size	93627	TBCK	OMIM:616900
HP:0000240	Abnormality of skull size	93627	TBCK	ORPHA:488632
HP:0000240	Abnormality of skull size	672	BRCA1	ORPHA:84
HP:0000240	Abnormality of skull size	672	BRCA1	OMIM:617883
HP:0000240	Abnormality of skull size	10459	MAD2L2	ORPHA:84
HP:0000240	Abnormality of skull size	10459	MAD2L2	OMIM:617243
HP:0000240	Abnormality of skull size	7516	XRCC2	ORPHA:84
HP:0000240	Abnormality of skull size	7516	XRCC2	OMIM:617247
HP:0000240	Abnormality of skull size	29089	UBE2T	ORPHA:84
HP:0000240	Abnormality of skull size	675	BRCA2	ORPHA:84
HP:0000240	Abnormality of skull size	675	BRCA2	OMIM:605724
HP:0000240	Abnormality of skull size	55120	FANCL	ORPHA:84
HP:0000240	Abnormality of skull size	2177	FANCD2	ORPHA:84
HP:0000240	Abnormality of skull size	2177	FANCD2	OMIM:227646
HP:0000240	Abnormality of skull size	2175	FANCA	ORPHA:84
HP:0000240	Abnormality of skull size	2175	FANCA	OMIM:227650
HP:0000240	Abnormality of skull size	2187	FANCB	ORPHA:84
HP:0000240	Abnormality of skull size	2176	FANCC	ORPHA:84
HP:0000240	Abnormality of skull size	2176	FANCC	OMIM:227645
HP:0000240	Abnormality of skull size	2178	FANCE	ORPHA:84
HP:0000240	Abnormality of skull size	2178	FANCE	OMIM:600901
HP:0000240	Abnormality of skull size	2188	FANCF	ORPHA:84
HP:0000240	Abnormality of skull size	2188	FANCF	OMIM:603467
HP:0000240	Abnormality of skull size	2189	FANCG	ORPHA:84
HP:0000240	Abnormality of skull size	2189	FANCG	OMIM:614082
HP:0000240	Abnormality of skull size	5888	RAD51	ORPHA:84
HP:0000240	Abnormality of skull size	5888	RAD51	OMIM:617244
HP:0000240	Abnormality of skull size	5889	RAD51C	ORPHA:84
HP:0000240	Abnormality of skull size	55159	RFWD3	ORPHA:84
HP:0000240	Abnormality of skull size	55159	RFWD3	OMIM:617784
HP:0000240	Abnormality of skull size	83990	BRIP1	ORPHA:84
HP:0000240	Abnormality of skull size	57697	FANCM	ORPHA:84
HP:0000240	Abnormality of skull size	55215	FANCI	ORPHA:84
HP:0000240	Abnormality of skull size	55215	FANCI	OMIM:609053
HP:0000240	Abnormality of skull size	546	ATRX	ORPHA:847
HP:0000240	Abnormality of skull size	546	ATRX	OMIM:309580
HP:0000240	Abnormality of skull size	546	ATRX	OMIM:301040
HP:0000240	Abnormality of skull size	222663	SCUBE3	OMIM:619184
HP:0000240	Abnormality of skull size	10367	MICU1	ORPHA:401768
HP:0000240	Abnormality of skull size	10367	MICU1	OMIM:615673
HP:0000240	Abnormality of skull size	9184	BUB3	ORPHA:1052
HP:0000240	Abnormality of skull size	699	BUB1	ORPHA:1052
HP:0000240	Abnormality of skull size	9702	CEP57	ORPHA:1052
HP:0000240	Abnormality of skull size	9702	CEP57	OMIM:614114
HP:0000240	Abnormality of skull size	9319	TRIP13	ORPHA:1052
HP:0000240	Abnormality of skull size	9319	TRIP13	OMIM:617598
HP:0000240	Abnormality of skull size	701	BUB1B	ORPHA:1052
HP:0000240	Abnormality of skull size	701	BUB1B	OMIM:257300
HP:0000240	Abnormality of skull size	23036	ZNF292	OMIM:619188
HP:0000240	Abnormality of skull size	79867	TCTN2	OMIM:613885
HP:0000240	Abnormality of skull size	79867	TCTN2	ORPHA:564
HP:0000240	Abnormality of skull size	63894	VIPAS39	OMIM:613404
HP:0000240	Abnormality of skull size	83879	CDCA7	OMIM:616910
HP:0000240	Abnormality of skull size	25942	SIN3A	OMIM:613406
HP:0000240	Abnormality of skull size	25942	SIN3A	ORPHA:94065
HP:0000240	Abnormality of skull size	53834	FGFRL1	OMIM:194190
HP:0000240	Abnormality of skull size	1487	CTBP1	OMIM:194190
HP:0000240	Abnormality of skull size	1487	CTBP1	ORPHA:280
HP:0000240	Abnormality of skull size	3954	LETM1	OMIM:194190
HP:0000240	Abnormality of skull size	3954	LETM1	ORPHA:280
HP:0000240	Abnormality of skull size	10815	CPLX1	OMIM:194190
HP:0000240	Abnormality of skull size	10815	CPLX1	ORPHA:280
HP:0000240	Abnormality of skull size	84947	SERAC1	OMIM:614739
HP:0000240	Abnormality of skull size	54084	TSPEAR	OMIM:620173
HP:0000240	Abnormality of skull size	5447	POR	OMIM:201750
HP:0000240	Abnormality of skull size	56006	SMG9	OMIM:616920
HP:0000240	Abnormality of skull size	91754	NEK9	ORPHA:64754
HP:0000240	Abnormality of skull size	84720	PIGO	OMIM:614749
HP:0000240	Abnormality of skull size	23345	SYNE1	ORPHA:319332
HP:0000240	Abnormality of skull size	3675	ITGA3	OMIM:614748
HP:0000240	Abnormality of skull size	5649	RELN	OMIM:257320
HP:0000240	Abnormality of skull size	23137	SMC5	OMIM:620185
HP:0000240	Abnormality of skull size	55343	SLC35C1	OMIM:266265
HP:0000240	Abnormality of skull size	55343	SLC35C1	ORPHA:99843
HP:0000240	Abnormality of skull size	79759	ZNF668	OMIM:620194
HP:0000240	Abnormality of skull size	1737	DLAT	OMIM:245348
HP:0000240	Abnormality of skull size	1737	DLAT	ORPHA:79244
HP:0000240	Abnormality of skull size	8050	PDHX	OMIM:245349
HP:0000240	Abnormality of skull size	8050	PDHX	ORPHA:255182
HP:0000240	Abnormality of skull size	23522	KAT6B	ORPHA:85201
HP:0000240	Abnormality of skull size	23522	KAT6B	OMIM:606170
HP:0000240	Abnormality of skull size	23522	KAT6B	OMIM:603736
HP:0000240	Abnormality of skull size	23522	KAT6B	ORPHA:3047
HP:0000240	Abnormality of skull size	6605	SMARCE1	OMIM:616938
HP:0000240	Abnormality of skull size	6605	SMARCE1	ORPHA:1465
HP:0000240	Abnormality of skull size	388015	RTL1	ORPHA:96334
HP:0000240	Abnormality of skull size	8788	DLK1	ORPHA:96334
HP:0000240	Abnormality of skull size	55384	MEG3	ORPHA:96334
HP:0000240	Abnormality of skull size	158	ADSL	ORPHA:46
HP:0000240	Abnormality of skull size	158	ADSL	OMIM:103050
HP:0000240	Abnormality of skull size	415	ARSL	OMIM:302950
HP:0000240	Abnormality of skull size	81887	LAS1L	OMIM:309585
HP:0000240	Abnormality of skull size	545	ATR	ORPHA:808
HP:0000240	Abnormality of skull size	545	ATR	OMIM:210600
HP:0000240	Abnormality of skull size	1062	CENPE	ORPHA:808
HP:0000240	Abnormality of skull size	1062	CENPE	OMIM:616051
HP:0000240	Abnormality of skull size	5116	PCNT	ORPHA:808
HP:0000240	Abnormality of skull size	5116	PCNT	OMIM:210720
HP:0000240	Abnormality of skull size	5116	PCNT	ORPHA:2637
HP:0000240	Abnormality of skull size	79902	NUP85	ORPHA:808
HP:0000240	Abnormality of skull size	84126	ATRIP	ORPHA:808
HP:0000240	Abnormality of skull size	55835	CENPJ	ORPHA:808
HP:0000240	Abnormality of skull size	55835	CENPJ	OMIM:608393
HP:0000240	Abnormality of skull size	55835	CENPJ	OMIM:613676
HP:0000240	Abnormality of skull size	55835	CENPJ	ORPHA:2512
HP:0000240	Abnormality of skull size	10293	TRAIP	ORPHA:808
HP:0000240	Abnormality of skull size	10293	TRAIP	OMIM:616777
HP:0000240	Abnormality of skull size	22995	CEP152	ORPHA:808
HP:0000240	Abnormality of skull size	22995	CEP152	OMIM:613823
HP:0000240	Abnormality of skull size	22995	CEP152	ORPHA:2512
HP:0000240	Abnormality of skull size	22995	CEP152	OMIM:614852
HP:0000240	Abnormality of skull size	2961	GTF2E2	OMIM:616943
HP:0000240	Abnormality of skull size	2961	GTF2E2	ORPHA:33364
HP:0000240	Abnormality of skull size	51567	TDP2	OMIM:616949
HP:0000240	Abnormality of skull size	6567	SLC16A2	ORPHA:59
HP:0000240	Abnormality of skull size	6567	SLC16A2	OMIM:300523
HP:0000240	Abnormality of skull size	9276	COPB2	OMIM:617800
HP:0000240	Abnormality of skull size	9276	COPB2	OMIM:619884
HP:0000240	Abnormality of skull size	9276	COPB2	ORPHA:2512
HP:0000240	Abnormality of skull size	3897	L1CAM	ORPHA:1497
HP:0000240	Abnormality of skull size	3897	L1CAM	OMIM:304100
HP:0000240	Abnormality of skull size	3897	L1CAM	OMIM:303350
HP:0000240	Abnormality of skull size	22907	DHX30	OMIM:617804
HP:0000240	Abnormality of skull size	9990	SLC12A6	ORPHA:1496
HP:0000240	Abnormality of skull size	9894	TELO2	OMIM:616954
HP:0000240	Abnormality of skull size	9230	RAB11B	OMIM:617807
HP:0000240	Abnormality of skull size	25939	SAMHD1	ORPHA:51
HP:0000240	Abnormality of skull size	25939	SAMHD1	OMIM:612952
HP:0000240	Abnormality of skull size	79621	RNASEH2B	ORPHA:51
HP:0000240	Abnormality of skull size	79621	RNASEH2B	OMIM:610181
HP:0000240	Abnormality of skull size	103	ADAR	ORPHA:51
HP:0000240	Abnormality of skull size	103	ADAR	OMIM:615010
HP:0000240	Abnormality of skull size	100147744	RNU7-1	ORPHA:51
HP:0000240	Abnormality of skull size	100147744	RNU7-1	OMIM:619487
HP:0000240	Abnormality of skull size	134353	LSM11	ORPHA:51
HP:0000240	Abnormality of skull size	64135	IFIH1	ORPHA:51
HP:0000240	Abnormality of skull size	64135	IFIH1	OMIM:615846
HP:0000240	Abnormality of skull size	10075	HUWE1	OMIM:309590
HP:0000240	Abnormality of skull size	60529	ALX4	OMIM:613451
HP:0000240	Abnormality of skull size	29123	ANKRD11	ORPHA:2332
HP:0000240	Abnormality of skull size	29123	ANKRD11	OMIM:148050
HP:0000240	Abnormality of skull size	9759	HDAC4	ORPHA:1001
HP:0000240	Abnormality of skull size	473	RERE	OMIM:616975
HP:0000240	Abnormality of skull size	473	RERE	ORPHA:1606
HP:0000240	Abnormality of skull size	1806	DPYD	OMIM:274270
HP:0000240	Abnormality of skull size	1806	DPYD	ORPHA:1675
HP:0000240	Abnormality of skull size	8085	KMT2D	ORPHA:2322
HP:0000240	Abnormality of skull size	8085	KMT2D	OMIM:147920
HP:0000240	Abnormality of skull size	7403	KDM6A	ORPHA:2322
HP:0000240	Abnormality of skull size	7403	KDM6A	OMIM:300867
HP:0000240	Abnormality of skull size	7403	KDM6A	OMIM:147920
HP:0000240	Abnormality of skull size	3097	HIVEP2	OMIM:616977
HP:0000240	Abnormality of skull size	54820	NDE1	OMIM:605013
HP:0000240	Abnormality of skull size	9837	GINS1	OMIM:617827
HP:0000240	Abnormality of skull size	79840	NHEJ1	ORPHA:169079
HP:0000240	Abnormality of skull size	55906	ZC4H2	OMIM:314580
HP:0000240	Abnormality of skull size	55906	ZC4H2	OMIM:301041
HP:0000240	Abnormality of skull size	2068	ERCC2	ORPHA:1466
HP:0000240	Abnormality of skull size	2068	ERCC2	ORPHA:33364
HP:0000240	Abnormality of skull size	2068	ERCC2	OMIM:610756
HP:0000240	Abnormality of skull size	2068	ERCC2	ORPHA:220295
HP:0000240	Abnormality of skull size	2068	ERCC2	OMIM:601675
HP:0000240	Abnormality of skull size	2068	ERCC2	ORPHA:910
HP:0000240	Abnormality of skull size	2068	ERCC2	OMIM:278730
HP:0000240	Abnormality of skull size	2067	ERCC1	ORPHA:1466
HP:0000240	Abnormality of skull size	2067	ERCC1	OMIM:610758
HP:0000240	Abnormality of skull size	6597	SMARCA4	ORPHA:1465
HP:0000240	Abnormality of skull size	6597	SMARCA4	OMIM:614609
HP:0000240	Abnormality of skull size	6598	SMARCB1	ORPHA:1465
HP:0000240	Abnormality of skull size	6598	SMARCB1	OMIM:614608
HP:0000240	Abnormality of skull size	6659	SOX4	ORPHA:1465
HP:0000240	Abnormality of skull size	6659	SOX4	OMIM:618506
HP:0000240	Abnormality of skull size	8289	ARID1A	ORPHA:1465
HP:0000240	Abnormality of skull size	8289	ARID1A	OMIM:614607
HP:0000240	Abnormality of skull size	5977	DPF2	ORPHA:1465
HP:0000240	Abnormality of skull size	6601	SMARCC2	ORPHA:1465
HP:0000240	Abnormality of skull size	6602	SMARCD1	ORPHA:1465
HP:0000240	Abnormality of skull size	57492	ARID1B	ORPHA:1465
HP:0000240	Abnormality of skull size	57492	ARID1B	ORPHA:251056
HP:0000240	Abnormality of skull size	57492	ARID1B	OMIM:135900
HP:0000240	Abnormality of skull size	196528	ARID2	ORPHA:1465
HP:0000240	Abnormality of skull size	6664	SOX11	ORPHA:1465
HP:0000240	Abnormality of skull size	6664	SOX11	OMIM:615866
HP:0000240	Abnormality of skull size	134701	RIPPLY2	ORPHA:2311
HP:0000240	Abnormality of skull size	10683	DLL3	ORPHA:2311
HP:0000240	Abnormality of skull size	3955	LFNG	ORPHA:2311
HP:0000240	Abnormality of skull size	84667	HES7	ORPHA:2311
HP:0000240	Abnormality of skull size	145873	MESP2	ORPHA:2311
HP:0000240	Abnormality of skull size	157570	ESCO2	ORPHA:2319
HP:0000240	Abnormality of skull size	157570	ESCO2	OMIM:268300
HP:0000240	Abnormality of skull size	157570	ESCO2	OMIM:216100
HP:0000240	Abnormality of skull size	157570	ESCO2	ORPHA:3103
HP:0000240	Abnormality of skull size	197131	UBR1	ORPHA:2315
HP:0000240	Abnormality of skull size	197131	UBR1	OMIM:243800
HP:0000240	Abnormality of skull size	5723	PSPH	ORPHA:79350
HP:0000240	Abnormality of skull size	5723	PSPH	OMIM:614023
HP:0000240	Abnormality of skull size	26227	PHGDH	ORPHA:79351
HP:0000240	Abnormality of skull size	6638	SNRPN	ORPHA:177907
HP:0000240	Abnormality of skull size	64840	PORCN	OMIM:305600
HP:0000240	Abnormality of skull size	55180	LINS1	OMIM:614340
HP:0000240	Abnormality of skull size	80152	CENPT	OMIM:618702
HP:0000240	Abnormality of skull size	6697	SPR	ORPHA:70594
HP:0000240	Abnormality of skull size	6697	SPR	OMIM:612716
HP:0000240	Abnormality of skull size	6134	RPL10	ORPHA:435938
HP:0000240	Abnormality of skull size	6134	RPL10	OMIM:300998
HP:0000240	Abnormality of skull size	6134	RPL10	ORPHA:459070
HP:0000240	Abnormality of skull size	953	ENTPD1	OMIM:615683
HP:0000240	Abnormality of skull size	953	ENTPD1	ORPHA:401810
HP:0000240	Abnormality of skull size	2893	GRIA4	OMIM:617864
HP:0000240	Abnormality of skull size	84628	NTNG2	OMIM:618718
HP:0000240	Abnormality of skull size	55691	FRMD4A	ORPHA:466688
HP:0000240	Abnormality of skull size	54802	TRIT1	OMIM:617873
HP:0000240	Abnormality of skull size	55733	HHAT	ORPHA:1422
HP:0000240	Abnormality of skull size	55733	HHAT	OMIM:600092
HP:0000240	Abnormality of skull size	4724	NDUFS4	OMIM:252010
HP:0000240	Abnormality of skull size	4724	NDUFS4	ORPHA:2609
HP:0000240	Abnormality of skull size	2260	FGFR1	ORPHA:220386
HP:0000240	Abnormality of skull size	2260	FGFR1	ORPHA:280200
HP:0000240	Abnormality of skull size	2260	FGFR1	OMIM:190440
HP:0000240	Abnormality of skull size	2260	FGFR1	ORPHA:93924
HP:0000240	Abnormality of skull size	2260	FGFR1	OMIM:615465
HP:0000240	Abnormality of skull size	10735	STAG2	ORPHA:220386
HP:0000240	Abnormality of skull size	10735	STAG2	ORPHA:93925
HP:0000240	Abnormality of skull size	10735	STAG2	OMIM:301043
HP:0000240	Abnormality of skull size	10735	STAG2	OMIM:301022
HP:0000240	Abnormality of skull size	8243	SMC1A	ORPHA:220386
HP:0000240	Abnormality of skull size	8243	SMC1A	OMIM:300590
HP:0000240	Abnormality of skull size	8243	SMC1A	OMIM:301044
HP:0000240	Abnormality of skull size	8243	SMC1A	ORPHA:199
HP:0000240	Abnormality of skull size	84700	MYO18B	OMIM:616549
HP:0000240	Abnormality of skull size	8777	MPDZ	OMIM:615219
HP:0000240	Abnormality of skull size	1788	DNMT3A	OMIM:618724
HP:0000240	Abnormality of skull size	8086	AAAS	OMIM:231550
HP:0000240	Abnormality of skull size	8086	AAAS	ORPHA:869
HP:0000240	Abnormality of skull size	26123	TCTN3	ORPHA:2753
HP:0000240	Abnormality of skull size	26123	TCTN3	ORPHA:564
HP:0000240	Abnormality of skull size	2182	ACSL4	OMIM:300387
HP:0000240	Abnormality of skull size	51075	TMX2	OMIM:618730
HP:0000240	Abnormality of skull size	57647	DHX37	OMIM:618731
HP:0000240	Abnormality of skull size	65057	ACD	OMIM:616553
HP:0000240	Abnormality of skull size	65057	ACD	ORPHA:3322
HP:0000240	Abnormality of skull size	7545	ZIC1	OMIM:618736
HP:0000240	Abnormality of skull size	7545	ZIC1	OMIM:616602
HP:0000240	Abnormality of skull size	51763	INPP5K	OMIM:617404
HP:0000240	Abnormality of skull size	51763	INPP5K	ORPHA:559
HP:0000240	Abnormality of skull size	4281	MID1	ORPHA:2745
HP:0000240	Abnormality of skull size	4281	MID1	OMIM:300000
HP:0000240	Abnormality of skull size	246329	STAC3	OMIM:255995
HP:0000240	Abnormality of skull size	8367	H4C5	OMIM:619950
HP:0000240	Abnormality of skull size	3703	STT3A	OMIM:615596
HP:0000240	Abnormality of skull size	3703	STT3A	OMIM:619714
HP:0000240	Abnormality of skull size	3703	STT3A	ORPHA:370921
HP:0000240	Abnormality of skull size	6873	TAF2	OMIM:615599
HP:0000240	Abnormality of skull size	1947	EFNB1	ORPHA:1520
HP:0000240	Abnormality of skull size	1355	COX15	OMIM:615119
HP:0000240	Abnormality of skull size	81857	MED25	OMIM:616449
HP:0000240	Abnormality of skull size	81857	MED25	ORPHA:464738
HP:0000240	Abnormality of skull size	5361	PLXNA1	OMIM:619955
HP:0000240	Abnormality of skull size	4047	LSS	ORPHA:2850
HP:0000240	Abnormality of skull size	4047	LSS	OMIM:618840
HP:0000240	Abnormality of skull size	197	AHSG	ORPHA:2850
HP:0000240	Abnormality of skull size	3694	ITGB6	ORPHA:2850
HP:0000240	Abnormality of skull size	3190	HNRNPK	ORPHA:453504
HP:0000240	Abnormality of skull size	3190	HNRNPK	ORPHA:352665
HP:0000240	Abnormality of skull size	6536	SLC6A9	OMIM:617301
HP:0000240	Abnormality of skull size	2782	GNB1	ORPHA:488613
HP:0000240	Abnormality of skull size	65082	VPS33A	OMIM:617303
HP:0000240	Abnormality of skull size	10730	YME1L1	OMIM:617302
HP:0000240	Abnormality of skull size	28960	DCPS	OMIM:616459
HP:0000240	Abnormality of skull size	51684	SUFU	ORPHA:280200
HP:0000240	Abnormality of skull size	10559	SLC35A1	OMIM:603585
HP:0000240	Abnormality of skull size	80153	EDC3	OMIM:616460
HP:0000240	Abnormality of skull size	55870	ASH1L	OMIM:617796
HP:0000240	Abnormality of skull size	25885	POLR1A	OMIM:616462
HP:0000240	Abnormality of skull size	91869	RFT1	ORPHA:244310
HP:0000240	Abnormality of skull size	91869	RFT1	OMIM:612015
HP:0000240	Abnormality of skull size	816	CAMK2B	OMIM:617799
HP:0000240	Abnormality of skull size	815	CAMK2A	OMIM:617798
HP:0000240	Abnormality of skull size	547	KIF1A	ORPHA:2836
HP:0000240	Abnormality of skull size	547	KIF1A	OMIM:614255
HP:0000240	Abnormality of skull size	5155	PDGFB	ORPHA:1980
HP:0000240	Abnormality of skull size	9213	XPR1	ORPHA:1980
HP:0000240	Abnormality of skull size	5159	PDGFRB	ORPHA:1980
HP:0000240	Abnormality of skull size	57462	MYORG	ORPHA:1980
HP:0000240	Abnormality of skull size	6575	SLC20A2	ORPHA:1980
HP:0000240	Abnormality of skull size	58494	JAM2	ORPHA:1980
HP:0000240	Abnormality of skull size	23184	MESD	OMIM:618644
HP:0000240	Abnormality of skull size	55109	AGGF1	ORPHA:90308
HP:0000240	Abnormality of skull size	2626	GATA4	ORPHA:251071
HP:0000240	Abnormality of skull size	652	BMP4	OMIM:607932
HP:0000240	Abnormality of skull size	652	BMP4	ORPHA:139471
HP:0000240	Abnormality of skull size	54872	PIGG	ORPHA:280
HP:0000240	Abnormality of skull size	7469	NELFA	ORPHA:280
HP:0000240	Abnormality of skull size	1656	DDX6	OMIM:618653
HP:0000240	Abnormality of skull size	1501	CTNND2	ORPHA:281
HP:0000240	Abnormality of skull size	9037	SEMA5A	ORPHA:281
HP:0000240	Abnormality of skull size	26057	ANKRD17	OMIM:619504
HP:0000240	Abnormality of skull size	3737	KCNA2	ORPHA:442835
HP:0000240	Abnormality of skull size	1759	DNM1	ORPHA:442835
HP:0000240	Abnormality of skull size	8120	AP3B2	ORPHA:442835
HP:0000240	Abnormality of skull size	8120	AP3B2	OMIM:617276
HP:0000240	Abnormality of skull size	10991	SLC38A3	ORPHA:442835
HP:0000240	Abnormality of skull size	10991	SLC38A3	OMIM:619881
HP:0000240	Abnormality of skull size	51343	FZR1	ORPHA:442835
HP:0000240	Abnormality of skull size	22906	TRAK1	ORPHA:442835
HP:0000240	Abnormality of skull size	22906	TRAK1	OMIM:618201
HP:0000240	Abnormality of skull size	2566	GABRG2	ORPHA:442835
HP:0000240	Abnormality of skull size	1917	EEF1A2	ORPHA:442835
HP:0000240	Abnormality of skull size	1917	EEF1A2	OMIM:616393
HP:0000240	Abnormality of skull size	2561	GABRB2	ORPHA:442835
HP:0000240	Abnormality of skull size	7532	YWHAG	ORPHA:442835
HP:0000240	Abnormality of skull size	79876	UBA5	ORPHA:442835
HP:0000240	Abnormality of skull size	6328	SCN3A	ORPHA:442835
HP:0000240	Abnormality of skull size	6328	SCN3A	OMIM:617935
HP:0000240	Abnormality of skull size	6328	SCN3A	OMIM:617938
HP:0000240	Abnormality of skull size	2558	GABRA5	ORPHA:442835
HP:0000240	Abnormality of skull size	2906	GRIN2D	ORPHA:442835
HP:0000240	Abnormality of skull size	2906	GRIN2D	OMIM:617162
HP:0000240	Abnormality of skull size	10659	CELF2	ORPHA:442835
HP:0000240	Abnormality of skull size	774	CACNA1B	ORPHA:442835
HP:0000240	Abnormality of skull size	1213	CLTC	ORPHA:442835
HP:0000240	Abnormality of skull size	23334	SZT2	ORPHA:442835
HP:0000240	Abnormality of skull size	51412	ACTL6B	ORPHA:442835
HP:0000240	Abnormality of skull size	51412	ACTL6B	OMIM:618468
HP:0000240	Abnormality of skull size	51412	ACTL6B	OMIM:618470
HP:0000240	Abnormality of skull size	348980	HCN1	ORPHA:442835
HP:0000240	Abnormality of skull size	348980	HCN1	OMIM:618482
HP:0000240	Abnormality of skull size	6506	SLC1A2	ORPHA:442835
HP:0000240	Abnormality of skull size	6506	SLC1A2	OMIM:617105
HP:0000240	Abnormality of skull size	8867	SYNJ1	ORPHA:442835
HP:0000240	Abnormality of skull size	2258	FGF13	ORPHA:442835
HP:0000240	Abnormality of skull size	3745	KCNB1	ORPHA:442835
HP:0000240	Abnormality of skull size	284111	SLC13A5	ORPHA:442835
HP:0000240	Abnormality of skull size	284111	SLC13A5	OMIM:615905
HP:0000240	Abnormality of skull size	25977	NECAP1	ORPHA:442835
HP:0000240	Abnormality of skull size	16	AARS1	ORPHA:442835
HP:0000240	Abnormality of skull size	16	AARS1	OMIM:616339
HP:0000240	Abnormality of skull size	22866	CNKSR2	ORPHA:442835
HP:0000240	Abnormality of skull size	9568	GABBR2	ORPHA:442835
HP:0000240	Abnormality of skull size	9568	GABBR2	OMIM:617903
HP:0000240	Abnormality of skull size	2555	GABRA2	ORPHA:442835
HP:0000240	Abnormality of skull size	2555	GABRA2	OMIM:618557
HP:0000240	Abnormality of skull size	55152	DALRD3	ORPHA:442835
HP:0000240	Abnormality of skull size	55152	DALRD3	OMIM:618910
HP:0000240	Abnormality of skull size	773	CACNA1A	ORPHA:442835
HP:0000240	Abnormality of skull size	26999	CYFIP2	ORPHA:442835
HP:0000240	Abnormality of skull size	26999	CYFIP2	OMIM:618008
HP:0000240	Abnormality of skull size	4915	NTRK2	ORPHA:442835
HP:0000240	Abnormality of skull size	25973	PARS2	ORPHA:442835
HP:0000240	Abnormality of skull size	23097	CDK19	ORPHA:442835
HP:0000240	Abnormality of skull size	64801	ARV1	ORPHA:442835
HP:0000240	Abnormality of skull size	79947	DHDDS	ORPHA:442835
HP:0000240	Abnormality of skull size	2257	FGF12	ORPHA:442835
HP:0000240	Abnormality of skull size	5530	PPP3CA	ORPHA:442835
HP:0000240	Abnormality of skull size	55623	THUMPD1	OMIM:619989
HP:0000240	Abnormality of skull size	57167	SALL4	ORPHA:233
HP:0000240	Abnormality of skull size	9935	MAFB	ORPHA:233
HP:0000240	Abnormality of skull size	1123	CHN1	ORPHA:233
HP:0000240	Abnormality of skull size	54888	NSUN2	ORPHA:235
HP:0000240	Abnormality of skull size	54888	NSUN2	OMIM:611091
HP:0000240	Abnormality of skull size	253738	EBF3	OMIM:617330
HP:0000240	Abnormality of skull size	1182	CLCN3	OMIM:619512
HP:0000240	Abnormality of skull size	1182	CLCN3	OMIM:619517
HP:0000240	Abnormality of skull size	29081	METTL5	OMIM:618665
HP:0000240	Abnormality of skull size	29081	METTL5	ORPHA:2512
HP:0000240	Abnormality of skull size	7862	BRPF1	OMIM:617333
HP:0000240	Abnormality of skull size	286	ANK1	ORPHA:251066
HP:0000240	Abnormality of skull size	5860	QDPR	ORPHA:226
HP:0000240	Abnormality of skull size	5860	QDPR	OMIM:261630
HP:0000240	Abnormality of skull size	7385	UQCRC2	OMIM:615160
HP:0000240	Abnormality of skull size	7750	ZMYM2	OMIM:619522
HP:0000240	Abnormality of skull size	9922	IQSEC1	OMIM:618687
HP:0000240	Abnormality of skull size	85365	ALG2	OMIM:607906
HP:0000240	Abnormality of skull size	85365	ALG2	ORPHA:79326
HP:0000240	Abnormality of skull size	57479	PRR12	OMIM:619539
HP:0000240	Abnormality of skull size	2006	ELN	ORPHA:90348
HP:0000240	Abnormality of skull size	2006	ELN	ORPHA:904
HP:0000240	Abnormality of skull size	10516	FBLN5	ORPHA:90348
HP:0000240	Abnormality of skull size	10516	FBLN5	ORPHA:90349
HP:0000240	Abnormality of skull size	10516	FBLN5	OMIM:219100
HP:0000240	Abnormality of skull size	4052	LTBP1	ORPHA:90349
HP:0000240	Abnormality of skull size	30008	EFEMP2	ORPHA:90349
HP:0000240	Abnormality of skull size	30008	EFEMP2	OMIM:614437
HP:0000240	Abnormality of skull size	404672	GTF2H5	ORPHA:33364
HP:0000240	Abnormality of skull size	833	CARS1	ORPHA:33364
HP:0000240	Abnormality of skull size	833	CARS1	OMIM:618891
HP:0000240	Abnormality of skull size	136647	MPLKIP	ORPHA:33364
HP:0000240	Abnormality of skull size	136647	MPLKIP	OMIM:234050
HP:0000240	Abnormality of skull size	6897	TARS1	ORPHA:33364
HP:0000240	Abnormality of skull size	2071	ERCC3	ORPHA:33364
HP:0000240	Abnormality of skull size	2071	ERCC3	ORPHA:220295
HP:0000240	Abnormality of skull size	2071	ERCC3	OMIM:610651
HP:0000240	Abnormality of skull size	2071	ERCC3	ORPHA:910
HP:0000240	Abnormality of skull size	1173	AP2M1	ORPHA:1942
HP:0000240	Abnormality of skull size	6323	SCN1A	ORPHA:1942
HP:0000240	Abnormality of skull size	340533	NEXMIF	ORPHA:1942
HP:0000240	Abnormality of skull size	1106	CHD2	ORPHA:1942
HP:0000240	Abnormality of skull size	6529	SLC6A1	ORPHA:1942
HP:0000240	Abnormality of skull size	9896	FIG4	OMIM:216340
HP:0000240	Abnormality of skull size	9896	FIG4	ORPHA:208441
HP:0000240	Abnormality of skull size	29893	PSMC3IP	ORPHA:243
HP:0000240	Abnormality of skull size	171568	POLR3H	ORPHA:243
HP:0000240	Abnormality of skull size	2516	NR5A1	ORPHA:243
HP:0000240	Abnormality of skull size	125150	ZSWIM7	ORPHA:243
HP:0000240	Abnormality of skull size	9210	BMP15	ORPHA:243
HP:0000240	Abnormality of skull size	23514	SPIDR	ORPHA:243
HP:0000240	Abnormality of skull size	2492	FSHR	ORPHA:243
HP:0000240	Abnormality of skull size	646	BNC1	ORPHA:243
HP:0000240	Abnormality of skull size	6576	SLC25A1	OMIM:615182
HP:0000240	Abnormality of skull size	8621	CDK13	OMIM:617360
HP:0000240	Abnormality of skull size	133686	NADK2	OMIM:616034
HP:0000240	Abnormality of skull size	133686	NADK2	ORPHA:431361
HP:0000240	Abnormality of skull size	5587	PRKD1	OMIM:617364
HP:0000240	Abnormality of skull size	29968	PSAT1	OMIM:616038
HP:0000240	Abnormality of skull size	8905	AP1S2	OMIM:304340
HP:0000240	Abnormality of skull size	8905	AP1S2	ORPHA:85329
HP:0000240	Abnormality of skull size	3736	KCNA1	ORPHA:1934
HP:0000240	Abnormality of skull size	9091	PIGQ	ORPHA:1934
HP:0000240	Abnormality of skull size	81603	TRIM8	ORPHA:1934
HP:0000240	Abnormality of skull size	81603	TRIM8	OMIM:619428
HP:0000240	Abnormality of skull size	2902	GRIN1	ORPHA:1934
HP:0000240	Abnormality of skull size	2902	GRIN1	OMIM:614254
HP:0000240	Abnormality of skull size	2902	GRIN1	OMIM:619814
HP:0000240	Abnormality of skull size	2902	GRIN1	ORPHA:208447
HP:0000240	Abnormality of skull size	79751	SLC25A22	ORPHA:1934
HP:0000240	Abnormality of skull size	150094	SIK1	ORPHA:1934
HP:0000240	Abnormality of skull size	23312	DMXL2	ORPHA:1934
HP:0000240	Abnormality of skull size	2917	GRM7	ORPHA:1934
HP:0000240	Abnormality of skull size	2917	GRM7	OMIM:618922
HP:0000240	Abnormality of skull size	170302	ARX	ORPHA:1934
HP:0000240	Abnormality of skull size	170302	ARX	OMIM:308350
HP:0000240	Abnormality of skull size	170302	ARX	OMIM:300004
HP:0000240	Abnormality of skull size	170302	ARX	ORPHA:2508
HP:0000240	Abnormality of skull size	170302	ARX	ORPHA:452
HP:0000240	Abnormality of skull size	6326	SCN2A	ORPHA:1934
HP:0000240	Abnormality of skull size	51227	PIGP	ORPHA:1934
HP:0000240	Abnormality of skull size	51227	PIGP	OMIM:617599
HP:0000240	Abnormality of skull size	6324	SCN1B	ORPHA:1934
HP:0000240	Abnormality of skull size	4761	NEUROD2	ORPHA:1934
HP:0000240	Abnormality of skull size	8803	SUCLA2	ORPHA:1933
HP:0000240	Abnormality of skull size	54808	DYM	ORPHA:239
HP:0000240	Abnormality of skull size	54808	DYM	OMIM:223800
HP:0000240	Abnormality of skull size	54808	DYM	OMIM:607326
HP:0000240	Abnormality of skull size	51750	RTEL1	OMIM:615190
HP:0000240	Abnormality of skull size	51750	RTEL1	ORPHA:3322
HP:0000240	Abnormality of skull size	10466	COG5	ORPHA:263487
HP:0000240	Abnormality of skull size	10466	COG5	OMIM:613612
HP:0000240	Abnormality of skull size	30000	TNPO2	OMIM:619556
HP:0000240	Abnormality of skull size	498	ATP5F1A	OMIM:616045
HP:0000240	Abnormality of skull size	23314	SATB2	ORPHA:251028
HP:0000240	Abnormality of skull size	23314	SATB2	ORPHA:251019
HP:0000240	Abnormality of skull size	23314	SATB2	OMIM:612313
HP:0000240	Abnormality of skull size	4729	NDUFV2	OMIM:618229
HP:0000240	Abnormality of skull size	4729	NDUFV2	ORPHA:2609
HP:0000240	Abnormality of skull size	2627	GATA6	OMIM:600001
HP:0000240	Abnormality of skull size	55869	HDAC8	OMIM:300882
HP:0000240	Abnormality of skull size	55869	HDAC8	ORPHA:199
HP:0000240	Abnormality of skull size	1349	COX7B	OMIM:300887
HP:0000240	Abnormality of skull size	1349	COX7B	ORPHA:2556
HP:0000240	Abnormality of skull size	1349	COX7B	OMIM:309801
HP:0000240	Abnormality of skull size	4695	NDUFA2	OMIM:618235
HP:0000240	Abnormality of skull size	79868	ALG13	OMIM:300884
HP:0000240	Abnormality of skull size	9179	AP4M1	OMIM:612936
HP:0000240	Abnormality of skull size	9179	AP4M1	ORPHA:280763
HP:0000240	Abnormality of skull size	3192	HNRNPU	OMIM:617391
HP:0000240	Abnormality of skull size	3192	HNRNPU	ORPHA:238769
HP:0000240	Abnormality of skull size	56915	EXOSC5	OMIM:619576
HP:0000240	Abnormality of skull size	8260	NAA10	OMIM:300855
HP:0000240	Abnormality of skull size	8260	NAA10	ORPHA:568
HP:0000240	Abnormality of skull size	8260	NAA10	OMIM:309800
HP:0000240	Abnormality of skull size	11274	USP18	OMIM:617397
HP:0000240	Abnormality of skull size	340665	CYP26C1	ORPHA:398189
HP:0000240	Abnormality of skull size	5831	PYCR1	OMIM:612940
HP:0000240	Abnormality of skull size	92344	GORAB	OMIM:231070
HP:0000240	Abnormality of skull size	6898	TAT	ORPHA:28378
HP:0000240	Abnormality of skull size	2898	GRIK2	OMIM:619580
HP:0000240	Abnormality of skull size	80324	PUS1	OMIM:600462
HP:0000240	Abnormality of skull size	80324	PUS1	ORPHA:2598
HP:0000240	Abnormality of skull size	9496	TBX4	ORPHA:261279
HP:0000240	Abnormality of skull size	10524	KAT5	OMIM:619103
HP:0000240	Abnormality of skull size	9451	EIF2AK3	OMIM:226980
HP:0000240	Abnormality of skull size	9451	EIF2AK3	ORPHA:1667
HP:0000240	Abnormality of skull size	5277	PIGA	OMIM:300868
HP:0000240	Abnormality of skull size	5277	PIGA	OMIM:301072
HP:0000240	Abnormality of skull size	8635	RNASET2	OMIM:612951
HP:0000240	Abnormality of skull size	5000	ORC4	OMIM:613800
HP:0000240	Abnormality of skull size	5000	ORC4	ORPHA:2554
HP:0000240	Abnormality of skull size	4990	SIX6	OMIM:206900
HP:0000240	Abnormality of skull size	6657	SOX2	OMIM:206900
HP:0000240	Abnormality of skull size	81620	CDT1	OMIM:613804
HP:0000240	Abnormality of skull size	81620	CDT1	ORPHA:2554
HP:0000240	Abnormality of skull size	23594	ORC6	OMIM:613803
HP:0000240	Abnormality of skull size	23594	ORC6	ORPHA:2554
HP:0000240	Abnormality of skull size	990	CDC6	OMIM:613805
HP:0000240	Abnormality of skull size	990	CDC6	ORPHA:2554
HP:0000240	Abnormality of skull size	50814	NSDHL	OMIM:300831
HP:0000240	Abnormality of skull size	50814	NSDHL	ORPHA:251383
HP:0000240	Abnormality of skull size	57003	CCDC47	OMIM:618268
HP:0000240	Abnormality of skull size	10847	SRCAP	OMIM:619595
HP:0000240	Abnormality of skull size	55526	DHTKD1	OMIM:204750
HP:0000240	Abnormality of skull size	1528	CYB5A	ORPHA:621
HP:0000240	Abnormality of skull size	1727	CYB5R3	ORPHA:621
HP:0000240	Abnormality of skull size	1727	CYB5R3	OMIM:250800
HP:0000240	Abnormality of skull size	526	ATP6V1B2	ORPHA:79500
HP:0000240	Abnormality of skull size	57465	TBC1D24	ORPHA:79500
HP:0000240	Abnormality of skull size	57465	TBC1D24	ORPHA:352596
HP:0000240	Abnormality of skull size	57465	TBC1D24	OMIM:220500
HP:0000240	Abnormality of skull size	57465	TBC1D24	OMIM:615338
HP:0000240	Abnormality of skull size	90522	YIF1B	OMIM:619125
HP:0000240	Abnormality of skull size	55755	CDK5RAP2	OMIM:604804
HP:0000240	Abnormality of skull size	55755	CDK5RAP2	ORPHA:2512
HP:0000240	Abnormality of skull size	6472	SHMT2	OMIM:619121
HP:0000240	Abnormality of skull size	90416	CCDC32	OMIM:619123
HP:0000240	Abnormality of skull size	9895	TECPR2	ORPHA:320385
HP:0000240	Abnormality of skull size	9895	TECPR2	OMIM:615031
HP:0000240	Abnormality of skull size	3739	KCNA4	OMIM:618284
HP:0000240	Abnormality of skull size	4683	NBN	ORPHA:647
HP:0000240	Abnormality of skull size	4683	NBN	OMIM:251260
HP:0000240	Abnormality of skull size	4693	NDP	ORPHA:649
HP:0000240	Abnormality of skull size	4693	NDP	ORPHA:891
HP:0000240	Abnormality of skull size	3735	KARS1	OMIM:619147
HP:0000240	Abnormality of skull size	8665	EIF3F	OMIM:618295
HP:0000240	Abnormality of skull size	221692	PHACTR1	OMIM:618298
HP:0000240	Abnormality of skull size	8517	IKBKG	OMIM:308300
HP:0000240	Abnormality of skull size	10134	BCAP31	OMIM:300475
HP:0000240	Abnormality of skull size	10134	BCAP31	ORPHA:369939
HP:0000240	Abnormality of skull size	3763	KCNJ6	ORPHA:435628
HP:0000240	Abnormality of skull size	3763	KCNJ6	OMIM:614098
HP:0000240	Abnormality of skull size	341640	FREM2	ORPHA:2052
HP:0000240	Abnormality of skull size	23426	GRIP1	ORPHA:2052
HP:0000240	Abnormality of skull size	10262	SF3B4	OMIM:154400
HP:0000240	Abnormality of skull size	8506	CNTNAP1	OMIM:618186
HP:0000240	Abnormality of skull size	145173	B3GLCT	ORPHA:709
HP:0000240	Abnormality of skull size	145173	B3GLCT	OMIM:261540
HP:0000240	Abnormality of skull size	7109	TRAPPC10	OMIM:620027
HP:0000240	Abnormality of skull size	7109	TRAPPC10	ORPHA:2512
HP:0000240	Abnormality of skull size	55325	UFSP2	OMIM:620028
HP:0000240	Abnormality of skull size	10274	STAG1	ORPHA:502434
HP:0000240	Abnormality of skull size	10274	STAG1	OMIM:617635
HP:0000240	Abnormality of skull size	1119	CHKA	OMIM:620023
HP:0000240	Abnormality of skull size	8496	PPFIBP1	OMIM:620024
HP:0000240	Abnormality of skull size	5111	PCNA	OMIM:615919
HP:0000240	Abnormality of skull size	5111	PCNA	ORPHA:438134
HP:0000240	Abnormality of skull size	2629	GBA1	OMIM:608013
HP:0000240	Abnormality of skull size	57176	VARS2	OMIM:615917
HP:0000240	Abnormality of skull size	183	AGT	OMIM:267430
HP:0000240	Abnormality of skull size	5972	REN	OMIM:267430
HP:0000240	Abnormality of skull size	185	AGTR1	OMIM:267430
HP:0000240	Abnormality of skull size	1636	ACE	OMIM:267430
HP:0000240	Abnormality of skull size	54968	TMEM70	ORPHA:1194
HP:0000240	Abnormality of skull size	5689	PSMB1	OMIM:620038
HP:0000240	Abnormality of skull size	23431	AP4E1	OMIM:613744
HP:0000240	Abnormality of skull size	23431	AP4E1	ORPHA:280763
HP:0000240	Abnormality of skull size	25782	RAB3GAP2	OMIM:212720
HP:0000240	Abnormality of skull size	25782	RAB3GAP2	OMIM:614225
HP:0000240	Abnormality of skull size	25782	RAB3GAP2	ORPHA:2510
HP:0000240	Abnormality of skull size	25782	RAB3GAP2	ORPHA:1387
HP:0000240	Abnormality of skull size	10472	ZBTB18	ORPHA:36367
HP:0000240	Abnormality of skull size	10472	ZBTB18	OMIM:612337
HP:0000240	Abnormality of skull size	7298	TYMS	OMIM:620040
HP:0000240	Abnormality of skull size	1351	COX8A	OMIM:619059
HP:0000240	Abnormality of skull size	100131801	PET100	OMIM:619055
HP:0000240	Abnormality of skull size	5428	POLG	ORPHA:726
HP:0000240	Abnormality of skull size	7080	NKX2-1	ORPHA:209905
HP:0000240	Abnormality of skull size	4212	MEIS2	OMIM:600987
HP:0000240	Abnormality of skull size	4212	MEIS2	ORPHA:261190
HP:0000240	Abnormality of skull size	26053	AUTS2	ORPHA:352490
HP:0000240	Abnormality of skull size	26053	AUTS2	OMIM:615834
HP:0000240	Abnormality of skull size	79813	EHMT1	OMIM:610253
HP:0000240	Abnormality of skull size	79813	EHMT1	ORPHA:261652
HP:0000240	Abnormality of skull size	79813	EHMT1	ORPHA:96147
HP:0000240	Abnormality of skull size	26005	C2CD3	OMIM:615948
HP:0000240	Abnormality of skull size	26005	C2CD3	ORPHA:434179
HP:0000240	Abnormality of skull size	10382	TUBB4A	OMIM:612438
HP:0000240	Abnormality of skull size	23265	EXOC7	OMIM:619072
HP:0000240	Abnormality of skull size	1802	DPH2	OMIM:620062
HP:0000240	Abnormality of skull size	443	ASPA	OMIM:271900
HP:0000240	Abnormality of skull size	149371	EXOC8	OMIM:619076
HP:0000240	Abnormality of skull size	285175	UNC80	OMIM:616801
HP:0000240	Abnormality of skull size	285175	UNC80	ORPHA:371364
HP:0000240	Abnormality of skull size	83475	DOHH	OMIM:620066
HP:0000240	Abnormality of skull size	92667	MGME1	ORPHA:352447
HP:0000240	Abnormality of skull size	92667	MGME1	OMIM:615084
HP:0000240	Abnormality of skull size	55027	HEATR3	OMIM:620072
HP:0000240	Abnormality of skull size	5700	PSMC1	OMIM:620071
HP:0000240	Abnormality of skull size	58508	KMT2C	ORPHA:261652
HP:0000240	Abnormality of skull size	58508	KMT2C	OMIM:617768
HP:0000240	Abnormality of skull size	4089	SMAD4	OMIM:139210
HP:0000240	Abnormality of skull size	5591	PRKDC	OMIM:615966
HP:0000240	Abnormality of skull size	25828	TXN2	OMIM:616811
HP:0000240	Abnormality of skull size	3187	HNRNPH1	OMIM:620083
HP:0000240	Abnormality of skull size	63895	PIEZO2	OMIM:248700
HP:0000240	Abnormality of skull size	63895	PIEZO2	ORPHA:2461
HP:0000240	Abnormality of skull size	22880	MORC2	OMIM:619090
HP:0000240	Abnormality of skull size	22880	MORC2	ORPHA:466768
HP:0000240	Abnormality of skull size	4677	NARS1	OMIM:619091
HP:0000240	Abnormality of skull size	4677	NARS1	OMIM:619092
HP:0000240	Abnormality of skull size	7355	SLC35A2	OMIM:300896
HP:0000240	Abnormality of skull size	7355	SLC35A2	ORPHA:356961
HP:0000240	Abnormality of skull size	80184	CEP290	OMIM:611134
HP:0000240	Abnormality of skull size	80184	CEP290	ORPHA:564
HP:0000240	Abnormality of skull size	5073	PARN	ORPHA:3322
HP:0000240	Abnormality of skull size	5073	PARN	OMIM:616353
HP:0000240	Abnormality of skull size	7015	TERT	ORPHA:3322
HP:0000240	Abnormality of skull size	7015	TERT	OMIM:613989
HP:0000240	Abnormality of skull size	26277	TINF2	ORPHA:3322
HP:0000240	Abnormality of skull size	26277	TINF2	OMIM:613990
HP:0000240	Abnormality of skull size	1736	DKC1	ORPHA:3322
HP:0000240	Abnormality of skull size	1736	DKC1	OMIM:305000
HP:0000240	Abnormality of skull size	92154	MTSS2	OMIM:620086
HP:0000240	Abnormality of skull size	197322	ACSF3	ORPHA:289504
HP:0000240	Abnormality of skull size	63925	ZNF335	ORPHA:329228
HP:0000240	Abnormality of skull size	2702	GJA5	OMIM:612474
HP:0000240	Abnormality of skull size	2703	GJA8	OMIM:612474
HP:0000240	Abnormality of skull size	55690	PACS1	ORPHA:329224
HP:0000240	Abnormality of skull size	51053	GMNN	OMIM:616835
HP:0000240	Abnormality of skull size	51053	GMNN	ORPHA:2554
HP:0000240	Abnormality of skull size	10664	CTCF	OMIM:615502
HP:0000240	Abnormality of skull size	10664	CTCF	ORPHA:363611
HP:0000240	Abnormality of skull size	6307	MSMO1	OMIM:616834
HP:0000240	Abnormality of skull size	2200	FBN1	ORPHA:2462
HP:0000240	Abnormality of skull size	6497	SKI	ORPHA:2462
HP:0000240	Abnormality of skull size	6497	SKI	ORPHA:1606
HP:0000240	Abnormality of skull size	6497	SKI	OMIM:182212
HP:0000240	Abnormality of skull size	1828	DSG1	OMIM:615508
HP:0000240	Abnormality of skull size	3720	JARID2	OMIM:620098
HP:0000240	Abnormality of skull size	579	NKX3-2	OMIM:613330
HP:0000240	Abnormality of skull size	85358	SHANK3	OMIM:606232
HP:0000240	Abnormality of skull size	549	AUH	ORPHA:67046
HP:0000240	Abnormality of skull size	55784	MCTP2	ORPHA:1596
HP:0000240	Abnormality of skull size	6301	SARS1	OMIM:617709
HP:0000240	Abnormality of skull size	55997	CFC1	OMIM:605376
HP:0000240	Abnormality of skull size	26224	FBXL3	OMIM:606220
HP:0000240	Abnormality of skull size	5925	RB1	ORPHA:1587
HP:0000240	Abnormality of skull size	27315	PGAP2	OMIM:614207
HP:0000240	Abnormality of skull size	83987	CCDC8	OMIM:614205
HP:0000240	Abnormality of skull size	80185	TTI2	OMIM:615541
HP:0000240	Abnormality of skull size	80185	TTI2	ORPHA:391307
HP:0000240	Abnormality of skull size	128989	TANGO2	OMIM:616878
HP:0000240	Abnormality of skull size	128989	TANGO2	ORPHA:480864
HP:0000240	Abnormality of skull size	55644	OSGEP	OMIM:617729
HP:0000240	Abnormality of skull size	55644	OSGEP	ORPHA:2065
HP:0000240	Abnormality of skull size	57572	DOCK6	OMIM:614219
HP:0000240	Abnormality of skull size	22931	RAB18	OMIM:614222
HP:0000240	Abnormality of skull size	22931	RAB18	ORPHA:2510
HP:0000240	Abnormality of skull size	23443	SLC35A3	OMIM:615553
HP:0000240	Abnormality of skull size	6925	TCF4	ORPHA:2896
HP:0000240	Abnormality of skull size	6925	TCF4	OMIM:610954
HP:0000240	Abnormality of skull size	202018	TAPT1	OMIM:616897
HP:0000240	Abnormality of skull size	54805	CNNM2	OMIM:616418
HP:0000240	Abnormality of skull size	6591	SNAI2	ORPHA:2884
HP:0000240	Abnormality of skull size	3815	KIT	ORPHA:2884
HP:0000240	Abnormality of skull size	3756	KCNH1	ORPHA:420561
HP:0000240	Abnormality of skull size	1376	CPT2	OMIM:608836
HP:0000240	Abnormality of skull size	10717	AP4B1	ORPHA:280763
HP:0000240	Abnormality of skull size	10717	AP4B1	OMIM:614066
HP:0000240	Abnormality of skull size	11154	AP4S1	ORPHA:280763
HP:0000240	Abnormality of skull size	11154	AP4S1	OMIM:614067
HP:0000240	Abnormality of skull size	9320	TRIP12	OMIM:617752
HP:0000240	Abnormality of skull size	5879	RAC1	OMIM:617751
HP:0000240	Abnormality of skull size	5879	RAC1	ORPHA:500159
HP:0000240	Abnormality of skull size	1663	DDX11	OMIM:613398
HP:0000240	Abnormality of skull size	2186	BPTF	OMIM:617755
HP:0000240	Abnormality of skull size	738	VPS51	OMIM:618606
HP:0000240	Abnormality of skull size	9439	MED23	OMIM:614249
HP:0000240	Abnormality of skull size	5430	POLR2A	OMIM:618603
HP:0000240	Abnormality of skull size	22827	PUF60	OMIM:615583
HP:0000240	Abnormality of skull size	22827	PUF60	ORPHA:508498
HP:0000240	Abnormality of skull size	26235	FBXL4	OMIM:615471
HP:0000240	Abnormality of skull size	23019	CNOT1	OMIM:618500
HP:0000240	Abnormality of skull size	55823	VPS11	ORPHA:466934
HP:0000240	Abnormality of skull size	55823	VPS11	OMIM:616683
HP:0000240	Abnormality of skull size	6777	STAT5B	OMIM:618985
HP:0000240	Abnormality of skull size	4897	NRCAM	OMIM:619833
HP:0000240	Abnormality of skull size	23498	HAAO	OMIM:617660
HP:0000240	Abnormality of skull size	161582	DNAAF4	OMIM:615482
HP:0000240	Abnormality of skull size	9578	CDC42BPB	OMIM:619841
HP:0000240	Abnormality of skull size	65993	MRPS34	OMIM:617664
HP:0000240	Abnormality of skull size	80816	ASXL3	OMIM:615485
HP:0000240	Abnormality of skull size	80816	ASXL3	ORPHA:352577
HP:0000240	Abnormality of skull size	8942	KYNU	OMIM:617661
HP:0000240	Abnormality of skull size	387787	LIPT2	OMIM:617668
HP:0000240	Abnormality of skull size	1841	DTYMK	OMIM:619847
HP:0000240	Abnormality of skull size	27229	TUBGCP4	OMIM:616335
HP:0000240	Abnormality of skull size	27229	TUBGCP4	ORPHA:2518
HP:0000240	Abnormality of skull size	3149	HMGB3	OMIM:300915
HP:0000240	Abnormality of skull size	2132	EXT2	ORPHA:466926
HP:0000240	Abnormality of skull size	2132	EXT2	OMIM:616682
HP:0000240	Abnormality of skull size	51112	TRAPPC12	OMIM:617669
HP:0000240	Abnormality of skull size	55636	CHD7	ORPHA:138
HP:0000240	Abnormality of skull size	55636	CHD7	OMIM:214800
HP:0000240	Abnormality of skull size	9723	SEMA3E	ORPHA:138
HP:0000240	Abnormality of skull size	284403	WDR62	OMIM:604317
HP:0000240	Abnormality of skull size	284403	WDR62	ORPHA:2512
HP:0000240	Abnormality of skull size	288	ANK3	OMIM:615493
HP:0000240	Abnormality of skull size	23250	ATP11A	OMIM:619851
HP:0000240	Abnormality of skull size	1020	CDK5	OMIM:616342
HP:0000240	Abnormality of skull size	7994	KAT6A	ORPHA:457193
HP:0000240	Abnormality of skull size	7994	KAT6A	OMIM:616268
HP:0000240	Abnormality of skull size	1716	DGUOK	OMIM:251880
HP:0000240	Abnormality of skull size	8550	MAPKAPK5	OMIM:619869
HP:0000240	Abnormality of skull size	23007	PLCH1	ORPHA:93925
HP:0000240	Abnormality of skull size	23007	PLCH1	OMIM:619895
HP:0000240	Abnormality of skull size	788	SLC25A20	ORPHA:159
HP:0000240	Abnormality of skull size	5518	PPP2R1A	OMIM:616362
HP:0000240	Abnormality of skull size	23126	POGZ	OMIM:616364
HP:0000240	Abnormality of skull size	23126	POGZ	ORPHA:468678
HP:0000240	Abnormality of skull size	55773	TBC1D23	OMIM:617695
HP:0000240	Abnormality of skull size	8558	CDK10	OMIM:617694
HP:0000240	Abnormality of skull size	51692	CPSF3	OMIM:619876
HP:0000240	Abnormality of skull size	116115	ZNF526	OMIM:619877
HP:0000240	Abnormality of skull size	5590	PRKCZ	ORPHA:1606
HP:0000240	Abnormality of skull size	2563	GABRD	ORPHA:1606
HP:0000240	Abnormality of skull size	23013	SPEN	ORPHA:1606
HP:0000240	Abnormality of skull size	23013	SPEN	OMIM:619312
HP:0000240	Abnormality of skull size	8510	MMP23B	ORPHA:1606
HP:0000240	Abnormality of skull size	7798	LUZP1	ORPHA:1606
HP:0000240	Abnormality of skull size	10630	PDPN	ORPHA:1606
HP:0000240	Abnormality of skull size	10277	UBE4B	ORPHA:1606
HP:0000240	Abnormality of skull size	8514	KCNAB2	ORPHA:1606
HP:0000240	Abnormality of skull size	63976	PRDM16	ORPHA:1606
HP:0000240	Abnormality of skull size	54897	CASZ1	ORPHA:1606
HP:0000240	Abnormality of skull size	1859	DYRK1A	ORPHA:464311
HP:0000240	Abnormality of skull size	1859	DYRK1A	ORPHA:268261
HP:0000240	Abnormality of skull size	1859	DYRK1A	OMIM:614104
HP:0000240	Abnormality of skull size	285362	SUMF1	ORPHA:585
HP:0000240	Abnormality of skull size	83479	DDX59	ORPHA:2919
HP:0000240	Abnormality of skull size	83479	DDX59	OMIM:174300
HP:0000240	Abnormality of skull size	56098	PCDHGC4	OMIM:619880
HP:0000240	Abnormality of skull size	4285	MIPEP	OMIM:617228
HP:0000240	Abnormality of skull size	641	BLM	OMIM:210900
HP:0000240	Abnormality of skull size	79633	FAT4	ORPHA:314679
HP:0000240	Abnormality of skull size	8642	DCHS1	ORPHA:314679
HP:0000240	Abnormality of skull size	57192	MCOLN1	ORPHA:578
HP:0000240	Abnormality of skull size	57192	MCOLN1	OMIM:252650
HP:0000240	Abnormality of skull size	5354	PLP1	OMIM:312080
HP:0000240	Abnormality of skull size	3798	KIF5A	OMIM:617235
HP:0000240	Abnormality of skull size	57679	ALS2	OMIM:205100
HP:0000240	Abnormality of skull size	57679	ALS2	ORPHA:300605
HP:0000240	Abnormality of skull size	8565	YARS1	OMIM:619418
HP:0000240	Abnormality of skull size	374969	SVBP	OMIM:618569
HP:0000240	Abnormality of skull size	84295	PHF6	ORPHA:127
HP:0000240	Abnormality of skull size	84295	PHF6	OMIM:301900
HP:0000240	Abnormality of skull size	6135	RPL11	ORPHA:124
HP:0000240	Abnormality of skull size	6138	RPL15	ORPHA:124
HP:0000240	Abnormality of skull size	6229	RPS24	ORPHA:124
HP:0000240	Abnormality of skull size	6125	RPL5	ORPHA:124
HP:0000240	Abnormality of skull size	6204	RPS10	ORPHA:124
HP:0000240	Abnormality of skull size	6224	RPS20	ORPHA:124
HP:0000240	Abnormality of skull size	6165	RPL35A	ORPHA:124
HP:0000240	Abnormality of skull size	2623	GATA1	ORPHA:124
HP:0000240	Abnormality of skull size	6223	RPS19	ORPHA:124
HP:0000240	Abnormality of skull size	6223	RPS19	OMIM:105650
HP:0000240	Abnormality of skull size	6232	RPS27	ORPHA:124
HP:0000240	Abnormality of skull size	6231	RPS26	ORPHA:124
HP:0000240	Abnormality of skull size	11224	RPL35	ORPHA:124
HP:0000240	Abnormality of skull size	6160	RPL31	ORPHA:124
HP:0000240	Abnormality of skull size	6218	RPS17	ORPHA:124
HP:0000240	Abnormality of skull size	6201	RPS7	ORPHA:124
HP:0000240	Abnormality of skull size	6155	RPL27	ORPHA:124
HP:0000240	Abnormality of skull size	6154	RPL26	ORPHA:124
HP:0000240	Abnormality of skull size	6210	RPS15A	ORPHA:124
HP:0000240	Abnormality of skull size	90121	TSR2	ORPHA:124
HP:0000240	Abnormality of skull size	6141	RPL18	ORPHA:124
HP:0000240	Abnormality of skull size	6235	RPS29	ORPHA:124
HP:0000240	Abnormality of skull size	6234	RPS28	ORPHA:124
HP:0000240	Abnormality of skull size	51816	ADA2	ORPHA:124
HP:0000240	Abnormality of skull size	9742	IFT140	OMIM:266920
HP:0000240	Abnormality of skull size	55656	INTS8	OMIM:618572
HP:0000240	Abnormality of skull size	165918	RNF168	OMIM:611943
HP:0000240	Abnormality of skull size	165918	RNF168	ORPHA:420741
HP:0000240	Abnormality of skull size	389827	MYMK	OMIM:254940
HP:0000240	Abnormality of skull size	389827	MYMK	ORPHA:1358
HP:0000240	Abnormality of skull size	51574	LARP7	OMIM:615071
HP:0000240	Abnormality of skull size	286053	NSMCE2	OMIM:617253
HP:0000240	Abnormality of skull size	84894	LINGO1	OMIM:618103
HP:0000240	Abnormality of skull size	160418	TMTC3	OMIM:617255
HP:0000240	Abnormality of skull size	123606	NIPA1	ORPHA:261183
HP:0000240	Abnormality of skull size	7283	TUBG1	ORPHA:261183
HP:0000240	Abnormality of skull size	7283	TUBG1	OMIM:615412
HP:0000240	Abnormality of skull size	81614	NIPA2	ORPHA:261183
HP:0000240	Abnormality of skull size	8473	OGT	OMIM:300997
HP:0000240	Abnormality of skull size	6418	SET	OMIM:618106
HP:0000240	Abnormality of skull size	9526	MPDU1	OMIM:609180
HP:0000240	Abnormality of skull size	1120	CHKB	OMIM:602541
HP:0000240	Abnormality of skull size	7707	ZNF148	OMIM:617260
HP:0000240	Abnormality of skull size	6299	SALL1	OMIM:107480
HP:0000240	Abnormality of skull size	3778	KCNMA1	OMIM:618596
HP:0000240	Abnormality of skull size	112939	NACC1	ORPHA:500545
HP:0000240	Abnormality of skull size	5053	PAH	OMIM:261600
HP:0000240	Abnormality of skull size	5053	PAH	ORPHA:79254
HP:0000240	Abnormality of skull size	5053	PAH	ORPHA:2209
HP:0000240	Abnormality of skull size	114803	MYSM1	OMIM:618116
HP:0000240	Abnormality of skull size	4041	LRP5	OMIM:259770
HP:0000240	Abnormality of skull size	4041	LRP5	ORPHA:891
HP:0000240	Abnormality of skull size	3039	HBA1	ORPHA:98791
HP:0000240	Abnormality of skull size	3040	HBA2	ORPHA:98791
HP:0000240	Abnormality of skull size	51132	RLIM	OMIM:300978
HP:0000240	Abnormality of skull size	4998	ORC1	OMIM:224690
HP:0000240	Abnormality of skull size	4998	ORC1	ORPHA:2554
HP:0000240	Abnormality of skull size	27341	RRP7A	OMIM:619453
HP:0000240	Abnormality of skull size	3376	IARS1	ORPHA:541423
HP:0000240	Abnormality of skull size	1312	COMT	ORPHA:567
HP:0000240	Abnormality of skull size	221037	JMJD1C	ORPHA:567
HP:0000240	Abnormality of skull size	2812	GP1BB	ORPHA:567
HP:0000240	Abnormality of skull size	6239	RREB1	ORPHA:567
HP:0000240	Abnormality of skull size	6899	TBX1	ORPHA:567
HP:0000240	Abnormality of skull size	6899	TBX1	ORPHA:1727
HP:0000240	Abnormality of skull size	6899	TBX1	OMIM:192430
HP:0000240	Abnormality of skull size	6899	TBX1	OMIM:188400
HP:0000240	Abnormality of skull size	7290	HIRA	ORPHA:567
HP:0000240	Abnormality of skull size	9632	SEC24C	ORPHA:567
HP:0000240	Abnormality of skull size	7353	UFD1	ORPHA:567
HP:0000240	Abnormality of skull size	421	ARVCF	ORPHA:567
HP:0000240	Abnormality of skull size	5077	PAX3	OMIM:148820
HP:0000240	Abnormality of skull size	5077	PAX3	ORPHA:896
HP:0000240	Abnormality of skull size	54880	BCOR	ORPHA:568
HP:0000240	Abnormality of skull size	54880	BCOR	OMIM:300166
HP:0000240	Abnormality of skull size	54880	BCOR	OMIM:309800
HP:0000240	Abnormality of skull size	6821	SUOX	OMIM:272300
HP:0000240	Abnormality of skull size	538	ATP7A	ORPHA:565
HP:0000240	Abnormality of skull size	538	ATP7A	OMIM:309400
HP:0000240	Abnormality of skull size	84314	TMEM107	ORPHA:564
HP:0000240	Abnormality of skull size	80776	B9D2	ORPHA:564
HP:0000240	Abnormality of skull size	79600	TCTN1	ORPHA:564
HP:0000240	Abnormality of skull size	57096	RPGRIP1	ORPHA:564
HP:0000240	Abnormality of skull size	79848	CSPP1	ORPHA:564
HP:0000240	Abnormality of skull size	51259	TMEM216	ORPHA:564
HP:0000240	Abnormality of skull size	57545	CC2D2A	ORPHA:564
HP:0000240	Abnormality of skull size	79583	TMEM231	ORPHA:564
HP:0000240	Abnormality of skull size	91147	TMEM67	ORPHA:564
HP:0000240	Abnormality of skull size	79770	TXNDC15	ORPHA:564
HP:0000240	Abnormality of skull size	27077	B9D1	ORPHA:564
HP:0000240	Abnormality of skull size	23322	RPGRIP1L	ORPHA:564
HP:0000240	Abnormality of skull size	54903	MKS1	ORPHA:564
HP:0000240	Abnormality of skull size	54903	MKS1	OMIM:249000
HP:0000240	Abnormality of skull size	65062	TMEM237	ORPHA:564
HP:0000240	Abnormality of skull size	23258	DENND5A	OMIM:617281
HP:0000240	Abnormality of skull size	92949	ADAMTSL1	ORPHA:521445
HP:0000240	Abnormality of skull size	84065	TMEM222	OMIM:619470
HP:0000240	Abnormality of skull size	57187	THOC2	OMIM:300957
HP:0000240	Abnormality of skull size	57187	THOC2	ORPHA:457240
HP:0000240	Abnormality of skull size	10526	IPO8	OMIM:619472
HP:0000240	Abnormality of skull size	348180	CTU2	OMIM:618142
HP:0000240	Abnormality of skull size	94005	PIGS	OMIM:618143
HP:0000240	Abnormality of skull size	55651	NHP2	OMIM:224230
HP:0000240	Abnormality of skull size	55505	NOP10	OMIM:224230
HP:0000240	Abnormality of skull size	6711	SPTBN1	OMIM:619475
HP:0000240	Abnormality of skull size	3643	INSR	ORPHA:508
HP:0000240	Abnormality of skull size	2131	EXT1	ORPHA:502
HP:0000240	Abnormality of skull size	7227	TRPS1	ORPHA:502
HP:0000240	Abnormality of skull size	6872	TAF1	OMIM:300966
HP:0000240	Abnormality of skull size	6872	TAF1	ORPHA:480907
HP:0000240	Abnormality of skull size	374879	ZNF699	OMIM:619488
HP:0000240	Abnormality of skull size	60676	PAPPA2	OMIM:619489
HP:0000240	Abnormality of skull size	1654	DDX3X	OMIM:300958
HP:0000240	Abnormality of skull size	1654	DDX3X	ORPHA:457260
HP:0000240	Abnormality of skull size	7284	TUFM	OMIM:610678
HP:0000240	Abnormality of skull size	407975	MIR17HG	ORPHA:391646
HP:0000240	Abnormality of skull size	55599	RNPC3	OMIM:618160
HP:0000240	Abnormality of skull size	5805	PTS	OMIM:261640
HP:0000240	Abnormality of skull size	63899	NSUN3	OMIM:619012
HP:0000240	Abnormality of skull size	7157	TP53	OMIM:618165
HP:0000240	Abnormality of skull size	2193	FARSA	OMIM:619013
HP:0000240	Abnormality of skull size	5557	PRIM1	OMIM:620005
HP:0000240	Abnormality of skull size	84081	NSRP1	OMIM:620001
HP:0000240	Abnormality of skull size	54936	ADPRS	OMIM:618170
HP:0000240	Abnormality of skull size	9562	MINPP1	ORPHA:284339
HP:0000240	Abnormality of skull size	64432	MRPS25	OMIM:619025
HP:0000240	Abnormality of skull size	84842	HPDL	OMIM:619026
HP:0000240	Abnormality of skull size	51002	TPRKB	ORPHA:2065
HP:0000240	Abnormality of skull size	112858	TP53RK	ORPHA:2065
HP:0000240	Abnormality of skull size	8270	LAGE3	ORPHA:2065
HP:0000240	Abnormality of skull size	55294	FBXW7	OMIM:620012
HP:0000240	Abnormality of skull size	1183	CLCN4	OMIM:300114
HP:0000240	Abnormality of skull size	1183	CLCN4	ORPHA:485350
HP:0000240	Abnormality of skull size	123263	MTFMT	OMIM:614947
HP:0000240	Abnormality of skull size	10667	FARS2	OMIM:614946
HP:0000240	Abnormality of skull size	9839	ZEB2	OMIM:235730
HP:0000240	Abnormality of skull size	80232	WDR26	ORPHA:513456
HP:0000240	Abnormality of skull size	4010	LMX1B	ORPHA:495818
HP:0000240	Abnormality of skull size	6812	STXBP1	ORPHA:495818
HP:0000240	Abnormality of skull size	4552	MTRR	ORPHA:2169
HP:0000240	Abnormality of skull size	80055	PGAP1	OMIM:615802
HP:0000240	Abnormality of skull size	57582	KCNT1	OMIM:614959
HP:0000240	Abnormality of skull size	10225	CD96	OMIM:211750
HP:0000240	Abnormality of skull size	10225	CD96	ORPHA:1308
HP:0000240	Abnormality of skull size	1763	DNA2	OMIM:615807
HP:0000240	Abnormality of skull size	6197	RPS6KA3	OMIM:303600
HP:0000240	Abnormality of skull size	6197	RPS6KA3	ORPHA:192
HP:0000240	Abnormality of skull size	8913	CACNA1G	OMIM:618087
HP:0000240	Abnormality of skull size	80204	FBXO11	OMIM:618089
HP:0000240	Abnormality of skull size	1509	CTSD	OMIM:610127
HP:0000240	Abnormality of skull size	23325	WASHC4	OMIM:615817
HP:0000240	Abnormality of skull size	57531	HACE1	ORPHA:464282
HP:0000240	Abnormality of skull size	57531	HACE1	OMIM:616756
HP:0000240	Abnormality of skull size	7156	TOP3A	OMIM:618097
HP:0000240	Abnormality of skull size	1009	CDH11	ORPHA:1299
HP:0000240	Abnormality of skull size	54496	PRMT7	ORPHA:464288
HP:0000240	Abnormality of skull size	54496	PRMT7	OMIM:617157
HP:0000240	Abnormality of skull size	5063	PAK3	OMIM:300558
HP:0000240	Abnormality of skull size	10056	FARSB	OMIM:613658
HP:0000240	Abnormality of skull size	54499	TMCO1	OMIM:213980
HP:0000240	Abnormality of skull size	440138	ALG11	OMIM:613661
HP:0000240	Abnormality of skull size	440138	ALG11	ORPHA:280071
HP:0000240	Abnormality of skull size	8481	OFD1	OMIM:311200
HP:0000240	Abnormality of skull size	5422	POLA1	ORPHA:163976
HP:0000240	Abnormality of skull size	5422	POLA1	OMIM:301030
HP:0000240	Abnormality of skull size	51067	YARS2	ORPHA:2598
HP:0000240	Abnormality of skull size	28962	OSTM1	OMIM:259720
HP:0000240	Abnormality of skull size	79228	THOC6	OMIM:613680
HP:0000240	Abnormality of skull size	2033	EP300	OMIM:613684
HP:0000240	Abnormality of skull size	2033	EP300	OMIM:180849
HP:0000240	Abnormality of skull size	5830	PEX5	OMIM:616716
HP:0000240	Abnormality of skull size	5830	PEX5	ORPHA:912
HP:0000240	Abnormality of skull size	219285	SAMD9L	ORPHA:2585
HP:0000240	Abnormality of skull size	27238	GPKOW	ORPHA:2570
HP:0000240	Abnormality of skull size	5648	MASP1	OMIM:257920
HP:0000240	Abnormality of skull size	26115	TANC2	OMIM:618906
HP:0000240	Abnormality of skull size	55593	OTUD5	OMIM:301056
HP:0000240	Abnormality of skull size	5160	PDHA1	OMIM:312170
HP:0000240	Abnormality of skull size	5160	PDHA1	ORPHA:79243
HP:0000240	Abnormality of skull size	54101	RIPK4	ORPHA:1234
HP:0000240	Abnormality of skull size	10982	MAPRE2	OMIM:616734
HP:0000240	Abnormality of skull size	10982	MAPRE2	ORPHA:2505
HP:0000240	Abnormality of skull size	3176	HNMT	OMIM:616739
HP:0000240	Abnormality of skull size	4131	MAP1B	OMIM:618918
HP:0000240	Abnormality of skull size	1778	DYNC1H1	OMIM:614563
HP:0000240	Abnormality of skull size	3796	KIF2A	OMIM:615411
HP:0000240	Abnormality of skull size	1911	PHC1	OMIM:615414
HP:0000240	Abnormality of skull size	1911	PHC1	ORPHA:2512
HP:0000240	Abnormality of skull size	259232	NALCN	OMIM:615419
HP:0000240	Abnormality of skull size	259232	NALCN	ORPHA:371364
HP:0000240	Abnormality of skull size	3759	KCNJ2	OMIM:170390
HP:0000240	Abnormality of skull size	100506658	OCLN	ORPHA:1229
HP:0000240	Abnormality of skull size	100506658	OCLN	OMIM:251290
HP:0000240	Abnormality of skull size	54539	NDUFB11	ORPHA:2556
HP:0000240	Abnormality of skull size	54539	NDUFB11	ORPHA:2609
HP:0000240	Abnormality of skull size	54539	NDUFB11	OMIM:309801
HP:0000240	Abnormality of skull size	3052	HCCS	ORPHA:2556
HP:0000240	Abnormality of skull size	3052	HCCS	OMIM:309801
HP:0000240	Abnormality of skull size	57511	COG6	OMIM:614576
HP:0000240	Abnormality of skull size	57511	COG6	OMIM:615328
HP:0000240	Abnormality of skull size	83696	TRAPPC9	ORPHA:352530
HP:0000240	Abnormality of skull size	29980	DONSON	OMIM:617604
HP:0000240	Abnormality of skull size	29980	DONSON	OMIM:251230
HP:0000240	Abnormality of skull size	84172	POLR1B	OMIM:618939
HP:0000240	Abnormality of skull size	60	ACTB	OMIM:243310
HP:0000240	Abnormality of skull size	60	ACTB	ORPHA:2995
HP:0000240	Abnormality of skull size	23476	BRD4	ORPHA:199
HP:0000240	Abnormality of skull size	9126	SMC3	ORPHA:199
HP:0000240	Abnormality of skull size	157680	VPS13B	ORPHA:193
HP:0000240	Abnormality of skull size	157680	VPS13B	OMIM:216550
HP:0000240	Abnormality of skull size	81689	ISCA1	OMIM:617613
HP:0000240	Abnormality of skull size	1861	TOR1A	OMIM:618947
HP:0000240	Abnormality of skull size	64857	PLEKHG2	OMIM:616763
HP:0000240	Abnormality of skull size	51520	LARS1	OMIM:615438
HP:0000240	Abnormality of skull size	4329	ALDH6A1	OMIM:614105
HP:0000240	Abnormality of skull size	25914	RTTN	ORPHA:468631
HP:0000240	Abnormality of skull size	25914	RTTN	OMIM:614833
HP:0000240	Abnormality of skull size	80781	COL18A1	OMIM:267750
HP:0000240	Abnormality of skull size	7343	UBTF	ORPHA:500180
HP:0000240	Abnormality of skull size	55617	TASP1	OMIM:618950
HP:0000240	Abnormality of skull size	60528	ELAC2	OMIM:615440
HP:0000240	Abnormality of skull size	28957	MRPS28	OMIM:618958
HP:0000240	Abnormality of skull size	3832	KIF11	ORPHA:2526
HP:0000240	Abnormality of skull size	3832	KIF11	OMIM:152950
HP:0000240	Abnormality of skull size	259266	ASPM	OMIM:608716
HP:0000240	Abnormality of skull size	259266	ASPM	ORPHA:2512
HP:0000240	Abnormality of skull size	7991	TUSC3	OMIM:611093
HP:0000240	Abnormality of skull size	4763	NF1	ORPHA:139474
HP:0000240	Abnormality of skull size	1804	DPP6	ORPHA:2514
HP:0000240	Abnormality of skull size	1804	DPP6	OMIM:616311
HP:0000240	Abnormality of skull size	8192	CLPP	OMIM:614129
HP:0000240	Abnormality of skull size	85378	TUBGCP6	ORPHA:2518
HP:0000240	Abnormality of skull size	85378	TUBGCP6	OMIM:251270
HP:0000240	Abnormality of skull size	4621	MYH3	ORPHA:2990
HP:0000240	Abnormality of skull size	4621	MYH3	OMIM:178110
HP:0000240	Abnormality of skull size	4621	MYH3	OMIM:193700
HP:0000240	Abnormality of skull size	1146	CHRNG	ORPHA:2990
HP:0000240	Abnormality of skull size	128637	TBC1D20	ORPHA:2510
HP:0000240	Abnormality of skull size	71	ACTG1	ORPHA:2995
HP:0000240	Abnormality of skull size	11113	CIT	ORPHA:2512
HP:0000240	Abnormality of skull size	9928	KIF14	ORPHA:2512
HP:0000240	Abnormality of skull size	9928	KIF14	OMIM:616258
HP:0000240	Abnormality of skull size	9928	KIF14	OMIM:617914
HP:0000240	Abnormality of skull size	55262	TRAPPC14	ORPHA:2512
HP:0000240	Abnormality of skull size	163786	SASS6	ORPHA:2512
HP:0000240	Abnormality of skull size	4176	MCM7	ORPHA:2512
HP:0000240	Abnormality of skull size	80254	CEP63	ORPHA:2512
HP:0000240	Abnormality of skull size	23310	NCAPD3	ORPHA:2512
HP:0000240	Abnormality of skull size	23310	NCAPD3	OMIM:617984
HP:0000240	Abnormality of skull size	79648	MCPH1	ORPHA:2512
HP:0000240	Abnormality of skull size	23141	ANKLE2	ORPHA:2512
HP:0000240	Abnormality of skull size	9662	CEP135	ORPHA:2512
HP:0000240	Abnormality of skull size	57082	KNL1	ORPHA:2512
HP:0000240	Abnormality of skull size	1021	CDK6	ORPHA:2512
HP:0000240	Abnormality of skull size	8884	SLC5A6	OMIM:618973
HP:0000240	Abnormality of skull size	55367	PIDD1	OMIM:619827
HP:0000240	Abnormality of skull size	10749	KIF1C	ORPHA:397946
HP:0000240	Abnormality of skull size	25915	NDUFAF3	ORPHA:2609
HP:0000240	Abnormality of skull size	51103	NDUFAF1	ORPHA:2609
HP:0000240	Abnormality of skull size	91942	NDUFAF2	ORPHA:2609
HP:0000240	Abnormality of skull size	51300	TIMMDC1	ORPHA:2609
HP:0000240	Abnormality of skull size	4716	NDUFB10	ORPHA:2609
HP:0000240	Abnormality of skull size	4723	NDUFV1	ORPHA:2609
HP:0000240	Abnormality of skull size	55572	FOXRED1	ORPHA:2609
HP:0000240	Abnormality of skull size	284184	NDUFAF8	ORPHA:2609
HP:0000240	Abnormality of skull size	55863	TMEM126B	ORPHA:2609
HP:0000240	Abnormality of skull size	4535	MT-ND1	ORPHA:2609
HP:0000240	Abnormality of skull size	4537	MT-ND3	ORPHA:2609
HP:0000240	Abnormality of skull size	4694	NDUFA1	ORPHA:2609
HP:0000240	Abnormality of skull size	4720	NDUFS2	ORPHA:2609
HP:0000240	Abnormality of skull size	4726	NDUFS6	ORPHA:2609
HP:0000240	Abnormality of skull size	4728	NDUFS8	ORPHA:2609
HP:0000240	Abnormality of skull size	4722	NDUFS3	ORPHA:2609
HP:0000240	Abnormality of skull size	79133	NDUFAF5	ORPHA:2609
HP:0000240	Abnormality of skull size	126328	NDUFA11	ORPHA:2609
HP:0000240	Abnormality of skull size	4709	NDUFB3	ORPHA:2609
HP:0000240	Abnormality of skull size	80224	NUBPL	ORPHA:2609
HP:0000240	Abnormality of skull size	29078	NDUFAF4	ORPHA:2609
HP:0000240	Abnormality of skull size	374291	NDUFS7	ORPHA:2609
HP:0000240	Abnormality of skull size	4700	NDUFA6	ORPHA:2609
HP:0000240	Abnormality of skull size	4536	MT-ND2	ORPHA:2609
HP:0000240	Abnormality of skull size	4715	NDUFB9	ORPHA:2609
HP:0000240	Abnormality of skull size	104	ADARB1	OMIM:618862
HP:0000240	Abnormality of skull size	60684	TRAPPC11	OMIM:615356
HP:0000240	Abnormality of skull size	60684	TRAPPC11	ORPHA:869
HP:0000240	Abnormality of skull size	60684	TRAPPC11	ORPHA:369840
HP:0000240	Abnormality of skull size	3020	H3-3A	OMIM:619720
HP:0000240	Abnormality of skull size	3021	H3-3B	OMIM:619721
HP:0000240	Abnormality of skull size	10300	KATNB1	OMIM:616212
HP:0000240	Abnormality of skull size	4056	LTC4S	OMIM:614037
HP:0000240	Abnormality of skull size	72	ACTG2	ORPHA:2604
HP:0000240	Abnormality of skull size	472	ATM	OMIM:208900
HP:0000240	Abnormality of skull size	5610	EIF2AK2	OMIM:618877
HP:0000240	Abnormality of skull size	3781	KCNN2	OMIM:619725
HP:0000240	Abnormality of skull size	137492	VPS37A	ORPHA:319199
HP:0000240	Abnormality of skull size	2590	GALNT2	OMIM:618885
HP:0000240	Abnormality of skull size	51319	RSRC1	OMIM:618402
HP:0000240	Abnormality of skull size	23761	PISD	OMIM:618889
HP:0000240	Abnormality of skull size	7020	TFAP2A	OMIM:113620
HP:0000240	Abnormality of skull size	55703	POLR3B	OMIM:619742
HP:0000240	Abnormality of skull size	5442	POLRMT	OMIM:619743
HP:0000240	Abnormality of skull size	4297	KMT2A	ORPHA:319182
HP:0000240	Abnormality of skull size	4297	KMT2A	OMIM:605130
HP:0000240	Abnormality of skull size	25930	PTPN23	OMIM:618890
HP:0000240	Abnormality of skull size	79731	NARS2	OMIM:616239
HP:0000240	Abnormality of skull size	339983	NAT8L	OMIM:614063
HP:0000240	Abnormality of skull size	8879	SGPL1	OMIM:617575
HP:0000240	Abnormality of skull size	8021	NUP214	OMIM:618426
HP:0000240	Abnormality of skull size	8364	H4C3	OMIM:619758
HP:0000240	Abnormality of skull size	145258	GSC	OMIM:602471
HP:0000240	Abnormality of skull size	53335	BCL11A	OMIM:617101
HP:0000240	Abnormality of skull size	9993	DGCR2	OMIM:192430
HP:0000240	Abnormality of skull size	8220	ESS2	OMIM:192430
HP:0000240	Abnormality of skull size	8214	DGCR6	OMIM:192430
HP:0000240	Abnormality of skull size	54487	DGCR8	OMIM:192430
HP:0000240	Abnormality of skull size	2271	FH	OMIM:606812
HP:0000240	Abnormality of skull size	57724	EPG5	OMIM:242840
HP:0000240	Abnormality of skull size	23162	MAPK8IP3	OMIM:618443
HP:0000240	Abnormality of skull size	10463	SLC30A9	OMIM:617595
HP:0000240	Abnormality of skull size	80173	IFT74	OMIM:617119
HP:0000240	Abnormality of skull size	10195	ALG3	ORPHA:79321
HP:0000240	Abnormality of skull size	10195	ALG3	OMIM:601110
HP:0000240	Abnormality of skull size	8295	TRRAP	OMIM:618454
HP:0000240	Abnormality of skull size	81570	CLPB	OMIM:616271
HP:0000240	Abnormality of skull size	6878	TAF6	OMIM:617126
HP:0000240	Abnormality of skull size	51013	EXOSC1	OMIM:619304
HP:0000240	Abnormality of skull size	84706	GPT2	OMIM:616281
HP:0000240	Abnormality of skull size	84706	GPT2	ORPHA:477673
HP:0000240	Abnormality of skull size	54892	NCAPG2	OMIM:618460
HP:0000240	Abnormality of skull size	51728	POLR3K	OMIM:619310
HP:0000240	Abnormality of skull size	85476	GFM1	OMIM:609060
HP:0000240	Abnormality of skull size	6650	CAPN15	OMIM:619318
HP:0000240	Abnormality of skull size	256297	PTF1A	OMIM:609069
HP:0000240	Abnormality of skull size	221496	LEMD2	OMIM:619322
HP:0000240	Abnormality of skull size	29998	BICRA	OMIM:619325
HP:0000240	Abnormality of skull size	8882	ZPR1	OMIM:619321
HP:0000240	Abnormality of skull size	4081	MAB21L1	OMIM:618479
HP:0000240	Abnormality of skull size	84892	POMGNT2	ORPHA:899
HP:0000240	Abnormality of skull size	148789	B3GALNT2	ORPHA:899
HP:0000240	Abnormality of skull size	1282	COL4A1	ORPHA:899
HP:0000240	Abnormality of skull size	10329	RXYLT1	ORPHA:899
HP:0000240	Abnormality of skull size	1605	DAG1	ORPHA:899
HP:0000240	Abnormality of skull size	11041	B4GAT1	ORPHA:899
HP:0000240	Abnormality of skull size	8869	ST3GAL5	OMIM:609056
HP:0000240	Abnormality of skull size	23221	RHOBTB2	OMIM:618004
HP:0000240	Abnormality of skull size	2530	FUT8	OMIM:618005
HP:0000240	Abnormality of skull size	79641	ROGDI	OMIM:226750
HP:0000240	Abnormality of skull size	7965	AIMP2	OMIM:618006
HP:0000240	Abnormality of skull size	1781	DYNC1I2	OMIM:618492
HP:0000240	Abnormality of skull size	191	AHCY	ORPHA:88618
HP:0000240	Abnormality of skull size	8091	HMGA2	ORPHA:94063
HP:0000240	Abnormality of skull size	23592	LEMD3	ORPHA:94063
HP:0000240	Abnormality of skull size	26276	VPS33B	OMIM:208085
HP:0000240	Abnormality of skull size	372	ARCN1	OMIM:617164
HP:0000240	Abnormality of skull size	54681	P4HTM	OMIM:618493
HP:0000240	Abnormality of skull size	60386	SLC25A19	ORPHA:99742
HP:0000240	Abnormality of skull size	9791	PTDSS1	OMIM:151050
HP:0000240	Abnormality of skull size	37	ACADVL	OMIM:201475
HP:0000240	Abnormality of skull size	5281	PIGF	OMIM:619356
HP:0000240	Abnormality of skull size	1387	CREBBP	OMIM:180849
HP:0000240	Abnormality of skull size	57514	ARHGAP31	OMIM:100300
HP:0000240	Abnormality of skull size	29926	GMPPA	ORPHA:869
HP:0000240	Abnormality of skull size	10681	GNB5	OMIM:617182
HP:0000240	Abnormality of skull size	79143	MBOAT7	OMIM:617188
HP:0000240	Abnormality of skull size	5080	PAX6	ORPHA:893
HP:0000240	Abnormality of skull size	627	BDNF	ORPHA:893
HP:0000240	Abnormality of skull size	7490	WT1	ORPHA:893
HP:0000240	Abnormality of skull size	6904	TBCD	OMIM:617193
HP:0000240	Abnormality of skull size	23554	TSPAN12	ORPHA:891
HP:0000240	Abnormality of skull size	79797	ZNF408	ORPHA:891
HP:0000240	Abnormality of skull size	8322	FZD4	ORPHA:891
HP:0000240	Abnormality of skull size	2733	GLE1	OMIM:611890
HP:0000240	Abnormality of skull size	2261	FGFR3	ORPHA:85165
HP:0000240	Abnormality of skull size	2261	FGFR3	OMIM:610474
HP:0000240	Abnormality of skull size	11011	TLK2	OMIM:618050
HP:0000240	Abnormality of skull size	4702	NDUFA8	OMIM:619272
HP:0000240	Abnormality of skull size	27183	VPS4A	OMIM:619273
HP:0000240	Abnormality of skull size	10128	LRPPRC	OMIM:220111
HP:0000240	Abnormality of skull size	81555	YIPF5	OMIM:619278
HP:0000240	Abnormality of skull size	55532	SLC30A10	ORPHA:309854
HP:0000240	Abnormality of skull size	8443	GNPAT	OMIM:222765
HP:0000240	Abnormality of skull size	9442	MED27	OMIM:619286
HP:0000240	Abnormality of skull size	64324	NSD1	ORPHA:228415
HP:0000240	Abnormality of skull size	3899	AFF3	OMIM:619297
HP:0000240	Abnormality of skull size	36	ACADSB	OMIM:610006
HP:0000240	Abnormality of skull size	8546	AP3B1	OMIM:608233
HP:0000240	Abnormality of skull size	51199	NIN	OMIM:614851
HP:0000240	Abnormality of skull size	51199	NIN	ORPHA:319675
HP:0000240	Abnormality of skull size	4338	MOCS2	OMIM:252160
HP:0000240	Abnormality of skull size	197257	LDHD	OMIM:245450
HP:0000240	Abnormality of skull size	9255	AIMP1	OMIM:260600
HP:0000240	Abnormality of skull size	6804	STX1A	ORPHA:904
HP:0000240	Abnormality of skull size	7461	CLIP2	ORPHA:904
HP:0000240	Abnormality of skull size	84277	DNAJC30	ORPHA:904
HP:0000240	Abnormality of skull size	8468	FKBP6	ORPHA:904
HP:0000240	Abnormality of skull size	5982	RFC2	ORPHA:904
HP:0000240	Abnormality of skull size	2969	GTF2I	ORPHA:904
HP:0000240	Abnormality of skull size	3984	LIMK1	ORPHA:904
HP:0000240	Abnormality of skull size	9569	GTF2IRD1	ORPHA:904
HP:0000240	Abnormality of skull size	155382	VPS37D	ORPHA:904
HP:0000240	Abnormality of skull size	155368	METTL27	ORPHA:904
HP:0000240	Abnormality of skull size	114049	BUD23	ORPHA:904
HP:0000240	Abnormality of skull size	7458	EIF4H	ORPHA:904
HP:0000240	Abnormality of skull size	84163	GTF2IRD2	ORPHA:904
HP:0000240	Abnormality of skull size	9275	BCL7B	ORPHA:904
HP:0000240	Abnormality of skull size	26608	TBL2	ORPHA:904
HP:0000240	Abnormality of skull size	653361	NCF1	ORPHA:904
HP:0000240	Abnormality of skull size	135886	TMEM270	ORPHA:904
HP:0000240	Abnormality of skull size	51085	MLXIPL	ORPHA:904
HP:0000240	Abnormality of skull size	9031	BAZ1B	ORPHA:904
HP:0000240	Abnormality of skull size	5297	PI4KA	ORPHA:98889
HP:0000240	Abnormality of skull size	27286	SRPX2	ORPHA:98889
HP:0000240	Abnormality of skull size	375748	ERCC6L2	OMIM:615715
HP:0000240	Abnormality of skull size	93210	PGAP3	OMIM:615716
HP:0000240	Abnormality of skull size	2521	FUS	ORPHA:300605
HP:0000240	Abnormality of skull size	80208	SPG11	ORPHA:300605
HP:0000240	Abnormality of skull size	10280	SIGMAR1	ORPHA:300605
HP:0000240	Abnormality of skull size	10558	SPTLC1	ORPHA:300605
HP:0000240	Abnormality of skull size	6628	SNRPB	ORPHA:1393
HP:0000240	Abnormality of skull size	6628	SNRPB	OMIM:117650
HP:0000240	Abnormality of skull size	162417	NAGS	ORPHA:927
HP:0000240	Abnormality of skull size	50628	GEMIN4	OMIM:617913
HP:0000240	Abnormality of skull size	5824	PEX19	OMIM:614886
HP:0000240	Abnormality of skull size	5824	PEX19	ORPHA:912
HP:0000240	Abnormality of skull size	867	CBL	OMIM:613563
HP:0000240	Abnormality of skull size	55670	PEX26	ORPHA:912
HP:0000240	Abnormality of skull size	5828	PEX2	ORPHA:912
HP:0000240	Abnormality of skull size	8504	PEX3	ORPHA:912
HP:0000240	Abnormality of skull size	8799	PEX11B	ORPHA:912
HP:0000240	Abnormality of skull size	9409	PEX16	ORPHA:912
HP:0000240	Abnormality of skull size	5190	PEX6	ORPHA:912
HP:0000240	Abnormality of skull size	5189	PEX1	ORPHA:912
HP:0000240	Abnormality of skull size	5193	PEX12	ORPHA:912
HP:0000240	Abnormality of skull size	5194	PEX13	ORPHA:912
HP:0000240	Abnormality of skull size	5195	PEX14	ORPHA:912
HP:0000240	Abnormality of skull size	5192	PEX10	ORPHA:912
HP:0000240	Abnormality of skull size	7507	XPA	ORPHA:910
HP:0000240	Abnormality of skull size	7507	XPA	OMIM:278700
HP:0000240	Abnormality of skull size	7508	XPC	ORPHA:910
HP:0000240	Abnormality of skull size	1643	DDB2	ORPHA:910
HP:0000240	Abnormality of skull size	4173	MCM4	OMIM:609981
HP:0000240	Abnormality of skull size	55187	VPS13D	OMIM:607317
HP:0000240	Abnormality of skull size	10157	AASS	ORPHA:2203
HP:0000240	Abnormality of skull size	79631	EFL1	OMIM:617941
HP:0000240	Abnormality of skull size	5429	POLH	OMIM:278750
HP:0000240	Abnormality of skull size	101929726	MYMX	ORPHA:1358
HP:0000240	Abnormality of skull size	2058	EPRS1	OMIM:617951
HP:0000240	Abnormality of skull size	1063	CENPF	OMIM:243605
HP:0000240	Abnormality of skull size	9361	LONP1	ORPHA:79243
HP:0000240	Abnormality of skull size	20	ABCA2	OMIM:618808
HP:0000240	Abnormality of skull size	91647	ATPAF2	OMIM:604273
HP:0000240	Abnormality of skull size	1729	DIAPH1	OMIM:616632
HP:0000240	Abnormality of skull size	175	AGA	OMIM:208400
HP:0000240	Abnormality of skull size	6785	ELOVL4	OMIM:614457
HP:0000240	Abnormality of skull size	9419	CRIPT	OMIM:615789
HP:0000240	Abnormality of skull size	27010	TPK1	OMIM:614458
HP:0000240	Abnormality of skull size	2584	GALK1	ORPHA:79237
HP:0000240	Abnormality of skull size	7874	USP7	ORPHA:500055
HP:0000240	Abnormality of skull size	11019	LIAS	OMIM:614462
HP:0000240	Abnormality of skull size	4337	MOCS1	OMIM:252150
HP:0000240	Abnormality of skull size	29957	SLC25A24	OMIM:612289
HP:0000240	Abnormality of skull size	3704	ITPA	OMIM:616647
HP:0000240	Abnormality of skull size	56270	WDR45B	OMIM:617977
HP:0000240	Abnormality of skull size	54870	QRICH1	OMIM:617982
HP:0000240	Abnormality of skull size	6911	TBX6	ORPHA:1797
HP:0000240	Abnormality of skull size	23397	NCAPH	OMIM:617985
HP:0000240	Abnormality of skull size	54676	GTPBP2	OMIM:617988
HP:0000240	Abnormality of skull size	158326	FREM1	OMIM:614485
HP:0000240	Abnormality of skull size	200205	IBA57	OMIM:615330
HP:0000240	Abnormality of skull size	25974	MMACHC	ORPHA:79282
HP:0000240	Abnormality of skull size	25974	MMACHC	OMIM:277400
HP:0000240	Abnormality of skull size	23133	PHF8	OMIM:300263
HP:0000240	Abnormality of skull size	51733	UPB1	OMIM:613161
HP:0000240	Abnormality of skull size	23001	WDFY3	OMIM:617520
HP:0000240	Abnormality of skull size	79587	CARS2	OMIM:616672
HP:0000240	Abnormality of skull size	35	ACADS	ORPHA:26792
HP:0000240	Abnormality of skull size	55753	OGDHL	OMIM:619701
HP:0000240	Abnormality of skull size	5052	PRDX1	OMIM:277400
HP:0000240	Abnormality of skull size	91949	COG7	OMIM:608779
HP:0000240	Abnormality of skull size	91949	COG7	ORPHA:79333
HP:0000240	Abnormality of skull size	4204	MECP2	OMIM:300673
HP:0000240	Abnormality of skull size	4204	MECP2	ORPHA:778
HP:0000240	Abnormality of skull size	6792	CDKL5	OMIM:300672
HP:0000240	Abnormality of skull size	1267	CNP	OMIM:619071
HP:0000240	Abnormality of skull size	10617	STAMBP	OMIM:614261
HP:0000240	Abnormality of skull size	91452	ACBD5	OMIM:618863
HP:0000240	Abnormality of skull size	84879	MFSD2A	OMIM:616486
HP:0000240	Abnormality of skull size	7737	RNF113A	OMIM:300953
HP:0000240	Abnormality of skull size	51660	MPC1	OMIM:614741
HP:0000240	Abnormality of skull size	1161	ERCC8	ORPHA:90324
HP:0000240	Abnormality of skull size	2074	ERCC6	ORPHA:90324
HP:0000240	Abnormality of skull size	10564	ARFGEF2	OMIM:608097
HP:0000240	Abnormality of skull size	2290	FOXG1	OMIM:613454
HP:0000240	Abnormality of skull size	8573	CASK	OMIM:300749
HP:0000240	Abnormality of skull size	4719	NDUFS1	OMIM:618226
HP:0000240	Abnormality of skull size	55627	SMPD4	OMIM:618622
HP:0000240	Abnormality of skull size	8818	DPM2	ORPHA:329178
HP:0000240	Abnormality of skull size	11340	EXOSC8	ORPHA:2254
HP:0000240	Abnormality of skull size	5393	EXOSC9	ORPHA:2254
HP:0000240	Abnormality of skull size	23287	AGTPBP1	ORPHA:2254
HP:0000240	Abnormality of skull size	51010	EXOSC3	ORPHA:2254
HP:0000240	Abnormality of skull size	51010	EXOSC3	OMIM:614678
HP:0000240	Abnormality of skull size	7443	VRK1	ORPHA:2254
HP:0000240	Abnormality of skull size	91137	SLC25A46	ORPHA:2254
HP:0000240	Abnormality of skull size	51091	SEPSECS	OMIM:613811
HP:0000240	Abnormality of skull size	51091	SEPSECS	ORPHA:2524
HP:0000240	Abnormality of skull size	22845	DOLK	ORPHA:91131
HP:0000240	Abnormality of skull size	132158	GLYCTK	ORPHA:941
HP:0000240	Abnormality of skull size	56052	ALG1	ORPHA:79327
HP:0000240	Abnormality of skull size	79796	ALG9	ORPHA:79328
HP:0000240	Abnormality of skull size	4247	MGAT2	ORPHA:79329
HP:0000240	Abnormality of skull size	11277	TREX1	OMIM:225750
HP:0000240	Abnormality of skull size	8318	CDC45	OMIM:617063
HP:0000240	Abnormality of skull size	122553	TRAPPC6B	OMIM:617862
HP:0000240	Abnormality of skull size	5859	QARS1	OMIM:615760
HP:0000240	Abnormality of skull size	116461	TSEN15	OMIM:617026
HP:0000240	Abnormality of skull size	116461	TSEN15	ORPHA:2524
HP:0000240	Abnormality of skull size	9326	ZNHIT3	OMIM:260565
HP:0000240	Abnormality of skull size	51741	WWOX	OMIM:616211
HP:0000240	Abnormality of skull size	283989	TSEN54	ORPHA:2524
HP:0000240	Abnormality of skull size	283989	TSEN54	OMIM:277470
HP:0000240	Abnormality of skull size	79042	TSEN34	ORPHA:2524
HP:0000240	Abnormality of skull size	80746	TSEN2	ORPHA:2524
HP:0000240	Abnormality of skull size	80746	TSEN2	OMIM:612389
HP:0000240	Abnormality of skull size	57688	ZSWIM6	OMIM:617865
HP:0000240	Abnormality of skull size	2137	EXTL3	OMIM:617425
HP:0000240	Abnormality of skull size	4190	MDH1	OMIM:618959
HP:0000240	Abnormality of skull size	55704	CCDC88A	OMIM:617507
HP:0000240	Abnormality of skull size	998	CDC42	OMIM:616737
HP:0000240	Abnormality of skull size	6334	SCN8A	OMIM:614558
HP:0000240	Abnormality of skull size	50	ACO2	OMIM:614559
HP:0000240	Abnormality of skull size	84197	POMK	OMIM:615249
HP:0000240	Abnormality of skull size	57038	RARS2	OMIM:611523
HP:0000240	Abnormality of skull size	6509	SLC1A4	OMIM:616657
HP:0000240	Abnormality of skull size	10978	CLP1	OMIM:615803
HP:0000240	Abnormality of skull size	54862	CC2D1A	OMIM:608443
HP:0000240	Abnormality of skull size	9382	COG1	OMIM:611209
HP:0000240	Abnormality of skull size	9382	COG1	ORPHA:263508
HP:0000240	Abnormality of skull size	2891	GRIA2	OMIM:618917
HP:0000240	Abnormality of skull size	23065	EMC1	ORPHA:480898
HP:0000240	Abnormality of skull size	63908	NAPB	OMIM:620033
HP:0000240	Abnormality of skull size	9342	SNAP29	OMIM:609528
HP:0000240	Abnormality of skull size	51651	PTRH2	OMIM:616263
HP:0000240	Abnormality of skull size	23545	ATP6V0A2	ORPHA:357074
HP:0000240	Abnormality of skull size	23545	ATP6V0A2	ORPHA:2834
HP:0000240	Abnormality of skull size	23545	ATP6V0A2	OMIM:278250
HP:0000240	Abnormality of skull size	523	ATP6V1A	ORPHA:357074
HP:0000240	Abnormality of skull size	529	ATP6V1E1	ORPHA:357074
HP:0000240	Abnormality of skull size	440	ASNS	OMIM:615574
HP:0000240	Abnormality of skull size	5538	PPT1	OMIM:256730
HP:0000240	Abnormality of skull size	6709	SPTAN1	OMIM:613477
HP:0000240	Abnormality of skull size	55275	VPS53	OMIM:615851
HP:0000240	Abnormality of skull size	203190	LGI3	OMIM:620007
HP:0000240	Abnormality of skull size	2806	GOT2	OMIM:618721
HP:0000240	Abnormality of skull size	51294	PCDH12	OMIM:251280
HP:0000240	Abnormality of skull size	29920	PYCR2	ORPHA:481152
HP:0000240	Abnormality of skull size	114034	TOE1	OMIM:614969
HP:0000240	Abnormality of skull size	5048	PAFAH1B1	ORPHA:95232
HP:0000240	Abnormality of skull size	3913	LAMB2	OMIM:609049
HP:0000240	Abnormality of skull size	84153	RNASEH2C	OMIM:610329
HP:0000240	Abnormality of skull size	83480	PUS3	ORPHA:488627
HP:0000240	Abnormality of skull size	79087	ALG12	ORPHA:79324
HP:0000240	Abnormality of skull size	79087	ALG12	OMIM:607143
HP:0000240	Abnormality of skull size	2801	GOLGA2	OMIM:620240
HP:0000240	Abnormality of skull size	23096	IQSEC2	ORPHA:397933
HP:0000240	Abnormality of skull size	55163	PNPO	OMIM:610090
HP:0000240	Abnormality of skull size	84188	FAR1	ORPHA:438178
HP:0000240	Abnormality of skull size	10844	TUBGCP2	OMIM:618737
HP:0000240	Abnormality of skull size	221927	BRAT1	OMIM:614498
HP:0000240	Abnormality of skull size	84342	COG8	ORPHA:95428
HP:0000240	Abnormality of skull size	11284	PNKP	OMIM:613402
HP:0000240	Abnormality of skull size	10535	RNASEH2A	OMIM:610333
HP:0000240	Abnormality of skull size	7407	VARS1	OMIM:617802
HP:0000240	Abnormality of skull size	9373	PLAA	OMIM:617527
HP:0000240	Abnormality of skull size	27445	PCLO	OMIM:608027
HP:0000240	Abnormality of skull size	9343	EFTUD2	OMIM:610536
HP:0000240	Abnormality of skull size	23516	SLC39A14	ORPHA:521406
HP:0000240	Abnormality of skull size	6513	SLC2A1	ORPHA:71277
HP:0000240	Abnormality of skull size	51256	TBC1D7	OMIM:248000
HP:0000240	Abnormality of skull size	3008	H1-4	OMIM:617537
HP:0000240	Abnormality of skull size	91801	ALKBH8	OMIM:618504
HP:0000240	Abnormality of skull size	5457	POU4F1	ORPHA:314647
HP:0000240	Abnormality of skull size	23261	CAMTA1	ORPHA:314647
HP:0000240	Abnormality of skull size	23261	CAMTA1	OMIM:614756
HP:0000240	Abnormality of skull size	4125	MAN2B1	ORPHA:309282
HP:0000240	Abnormality of skull size	4125	MAN2B1	OMIM:248500
HP:0000240	Abnormality of skull size	2737	GLI3	ORPHA:380
HP:0000240	Abnormality of skull size	2737	GLI3	ORPHA:672
HP:0000240	Abnormality of skull size	2737	GLI3	ORPHA:36
HP:0000240	Abnormality of skull size	2737	GLI3	OMIM:175700
HP:0000240	Abnormality of skull size	1855	DVL1	OMIM:616331
HP:0000240	Abnormality of skull size	1855	DVL1	OMIM:180700
HP:0000240	Abnormality of skull size	1855	DVL1	ORPHA:3107
HP:0000240	Abnormality of skull size	55790	CSGALNACT1	OMIM:618870
HP:0000240	Abnormality of skull size	51111	KMT5B	OMIM:617788
HP:0000240	Abnormality of skull size	79639	TMEM53	OMIM:619727
HP:0000240	Abnormality of skull size	55904	KMT2E	OMIM:618512
HP:0000240	Abnormality of skull size	129563	DIS3L2	ORPHA:2849
HP:0000240	Abnormality of skull size	3764	KCNJ8	ORPHA:1517
HP:0000240	Abnormality of skull size	10060	ABCC9	ORPHA:1517
HP:0000240	Abnormality of skull size	10060	ABCC9	OMIM:239850
HP:0000240	Abnormality of skull size	50964	SOST	ORPHA:1513
HP:0000240	Abnormality of skull size	50964	SOST	OMIM:122860
HP:0000240	Abnormality of skull size	317662	FAM149B1	OMIM:618763
HP:0000240	Abnormality of skull size	818	CAMK2G	OMIM:618522
HP:0000240	Abnormality of skull size	54453	RIN2	OMIM:613075
HP:0000240	Abnormality of skull size	3423	IDS	ORPHA:217085
HP:0000240	Abnormality of skull size	3423	IDS	OMIM:309900
HP:0000240	Abnormality of skull size	3423	IDS	ORPHA:217093
HP:0000240	Abnormality of skull size	56172	ANKH	OMIM:123000
HP:0000240	Abnormality of skull size	84100	ARL6	OMIM:209900
HP:0000240	Abnormality of skull size	79140	CCDC28B	OMIM:209900
HP:0000240	Abnormality of skull size	582	BBS1	OMIM:209900
HP:0000240	Abnormality of skull size	4920	ROR2	ORPHA:1507
HP:0000240	Abnormality of skull size	4920	ROR2	OMIM:268310
HP:0000240	Abnormality of skull size	10484	SEC23A	OMIM:607812
HP:0000240	Abnormality of skull size	1105	CHD1	OMIM:617682
HP:0000240	Abnormality of skull size	1105	CHD1	ORPHA:529965
HP:0000240	Abnormality of skull size	8726	EED	OMIM:617561
HP:0000240	Abnormality of skull size	8726	EED	ORPHA:3447
HP:0000240	Abnormality of skull size	5528	PPP2R5D	OMIM:616355
HP:0000240	Abnormality of skull size	5528	PPP2R5D	ORPHA:457279
HP:0000240	Abnormality of skull size	2783	GNB2	OMIM:619503
HP:0000240	Abnormality of skull size	2773	GNAI3	OMIM:602483
HP:0000240	Abnormality of skull size	2773	GNAI3	ORPHA:137888
HP:0000240	Abnormality of skull size	3476	IGBP1	ORPHA:52055
HP:0000240	Abnormality of skull size	3476	IGBP1	OMIM:300472
HP:0000240	Abnormality of skull size	11285	B4GALT7	OMIM:130070
HP:0000240	Abnormality of skull size	11285	B4GALT7	ORPHA:75496
HP:0000240	Abnormality of skull size	23512	SUZ12	OMIM:618786
HP:0000240	Abnormality of skull size	23512	SUZ12	ORPHA:3447
HP:0000240	Abnormality of skull size	51604	PIGT	OMIM:615398
HP:0000240	Abnormality of skull size	57680	CHD8	OMIM:615032
HP:0000240	Abnormality of skull size	3572	IL6ST	OMIM:619750
HP:0000240	Abnormality of skull size	100128927	ZBTB42	OMIM:616248
HP:0000240	Abnormality of skull size	26137	ZBTB20	OMIM:259050
HP:0000240	Abnormality of skull size	27086	FOXP1	ORPHA:391372
HP:0000240	Abnormality of skull size	27086	FOXP1	OMIM:613670
HP:0000240	Abnormality of skull size	6942	TCF20	OMIM:618430
HP:0000240	Abnormality of skull size	9158	FIBP	OMIM:617107
HP:0000240	Abnormality of skull size	9158	FIBP	ORPHA:500095
HP:0000240	Abnormality of skull size	2263	FGFR2	ORPHA:168624
HP:0000240	Abnormality of skull size	9772	TMEM94	OMIM:618316
HP:0000240	Abnormality of skull size	51341	ZBTB7A	OMIM:619769
HP:0000240	Abnormality of skull size	4626	MYH8	OMIM:158300
HP:0000240	Abnormality of skull size	7030	TFE3	OMIM:301066
HP:0000240	Abnormality of skull size	2239	GPC4	ORPHA:373
HP:0000240	Abnormality of skull size	2239	GPC4	OMIM:312870
HP:0000240	Abnormality of skull size	2239	GPC4	OMIM:301026
HP:0000240	Abnormality of skull size	2239	GPC4	ORPHA:2662
HP:0000240	Abnormality of skull size	2719	GPC3	ORPHA:373
HP:0000240	Abnormality of skull size	2719	GPC3	OMIM:312870
HP:0000240	Abnormality of skull size	4123	MAN2C1	OMIM:619775
HP:0000240	Abnormality of skull size	54941	RNF125	OMIM:616260
HP:0000240	Abnormality of skull size	1107	CHD3	OMIM:618205
HP:0000240	Abnormality of skull size	4488	MSX2	OMIM:168550
HP:0000240	Abnormality of skull size	4488	MSX2	OMIM:168500
HP:0000240	Abnormality of skull size	3845	KRAS	OMIM:600268
HP:0000240	Abnormality of skull size	3845	KRAS	ORPHA:2396
HP:0000240	Abnormality of skull size	3845	KRAS	ORPHA:3339
HP:0000240	Abnormality of skull size	3845	KRAS	ORPHA:1340
HP:0000240	Abnormality of skull size	25970	SH2B1	ORPHA:261197
HP:0000240	Abnormality of skull size	112752	IFT43	OMIM:614099
HP:0000240	Abnormality of skull size	6654	SOS1	OMIM:610733
HP:0000240	Abnormality of skull size	79944	L2HGDH	ORPHA:79314
HP:0000240	Abnormality of skull size	3912	LAMB1	OMIM:615191
HP:0000240	Abnormality of skull size	8925	HERC1	OMIM:617011
HP:0000240	Abnormality of skull size	8925	HERC1	ORPHA:457359
HP:0000240	Abnormality of skull size	92335	STRADA	ORPHA:500533
HP:0000240	Abnormality of skull size	92335	STRADA	OMIM:611087
HP:0000240	Abnormality of skull size	10312	TCIRG1	ORPHA:667
HP:0000240	Abnormality of skull size	10312	TCIRG1	OMIM:259700
HP:0000240	Abnormality of skull size	10312	TCIRG1	ORPHA:1782
HP:0000240	Abnormality of skull size	1186	CLCN7	ORPHA:667
HP:0000240	Abnormality of skull size	1186	CLCN7	ORPHA:53
HP:0000240	Abnormality of skull size	29887	SNX10	ORPHA:667
HP:0000240	Abnormality of skull size	29887	SNX10	OMIM:615085
HP:0000240	Abnormality of skull size	8600	TNFSF11	ORPHA:667
HP:0000240	Abnormality of skull size	374654	KIF7	ORPHA:36
HP:0000240	Abnormality of skull size	374654	KIF7	ORPHA:166024
HP:0000240	Abnormality of skull size	374654	KIF7	OMIM:200990
HP:0000240	Abnormality of skull size	374654	KIF7	OMIM:607131
HP:0000240	Abnormality of skull size	650	BMP2	ORPHA:261295
HP:0000240	Abnormality of skull size	1193	CLIC2	OMIM:300886
HP:0000240	Abnormality of skull size	1436	CSF1R	OMIM:618476
HP:0000240	Abnormality of skull size	9871	SEC24D	OMIM:616294
HP:0000240	Abnormality of skull size	6492	SIM1	ORPHA:171829
HP:0000240	Abnormality of skull size	23729	SHPK	ORPHA:440713
HP:0000240	Abnormality of skull size	51114	ZDHHC9	ORPHA:776
HP:0000240	Abnormality of skull size	65109	UPF3B	ORPHA:776
HP:0000240	Abnormality of skull size	65109	UPF3B	OMIM:300676
HP:0000240	Abnormality of skull size	3417	IDH1	ORPHA:99646
HP:0000240	Abnormality of skull size	114548	NLRP3	ORPHA:575
HP:0000240	Abnormality of skull size	114548	NLRP3	ORPHA:1451
HP:0000240	Abnormality of skull size	57551	TAOK1	OMIM:619575
HP:0000240	Abnormality of skull size	1108	CHD4	OMIM:617159
HP:0000240	Abnormality of skull size	116442	RAB39B	OMIM:311510
HP:0000240	Abnormality of skull size	116442	RAB39B	ORPHA:2379
HP:0000240	Abnormality of skull size	116442	RAB39B	OMIM:300271
HP:0000240	Abnormality of skull size	3265	HRAS	ORPHA:3071
HP:0000240	Abnormality of skull size	3265	HRAS	OMIM:218040
HP:0000240	Abnormality of skull size	10483	SEC23B	ORPHA:201
HP:0000240	Abnormality of skull size	10483	SEC23B	OMIM:616858
HP:0000240	Abnormality of skull size	6391	SDHC	ORPHA:201
HP:0000240	Abnormality of skull size	205717	USF3	ORPHA:201
HP:0000240	Abnormality of skull size	100144748	KLLN	ORPHA:201
HP:0000240	Abnormality of skull size	100144748	KLLN	OMIM:615107
HP:0000240	Abnormality of skull size	7319	UBE2A	OMIM:300860
HP:0000240	Abnormality of skull size	7319	UBE2A	ORPHA:163956
HP:0000240	Abnormality of skull size	1760	DMPK	ORPHA:589821
HP:0000240	Abnormality of skull size	10013	HDAC6	OMIM:300863
HP:0000240	Abnormality of skull size	2009	EML1	OMIM:600348
HP:0000240	Abnormality of skull size	2332	FMR1	OMIM:300624
HP:0000240	Abnormality of skull size	2332	FMR1	ORPHA:908
HP:0000240	Abnormality of skull size	2475	MTOR	ORPHA:457485
HP:0000240	Abnormality of skull size	2475	MTOR	ORPHA:99802
HP:0000240	Abnormality of skull size	2475	MTOR	OMIM:616638
HP:0000240	Abnormality of skull size	2683	B4GALT1	OMIM:607091
HP:0000240	Abnormality of skull size	220296	HEPACAM	OMIM:613925
HP:0000240	Abnormality of skull size	220296	HEPACAM	OMIM:613926
HP:0000240	Abnormality of skull size	220296	HEPACAM	OMIM:604004
HP:0000240	Abnormality of skull size	8812	CCNK	OMIM:618147
HP:0000240	Abnormality of skull size	2892	GRIA3	ORPHA:364028
HP:0000240	Abnormality of skull size	2892	GRIA3	OMIM:300699
HP:0000240	Abnormality of skull size	10283	CWC27	OMIM:250410
HP:0000240	Abnormality of skull size	1836	SLC26A2	ORPHA:628
HP:0000240	Abnormality of skull size	1836	SLC26A2	ORPHA:93298
HP:0000240	Abnormality of skull size	4534	MTM1	OMIM:310400
HP:0000240	Abnormality of skull size	10653	SPINT2	OMIM:270420
HP:0000240	Abnormality of skull size	23405	DICER1	OMIM:618272
HP:0000240	Abnormality of skull size	3636	INPPL1	OMIM:258480
HP:0000240	Abnormality of skull size	3636	INPPL1	ORPHA:3144
HP:0000240	Abnormality of skull size	3636	INPPL1	ORPHA:2746
HP:0000240	Abnormality of skull size	2571	GAD1	OMIM:619124
HP:0000240	Abnormality of skull size	6853	SYN1	ORPHA:85294
HP:0000240	Abnormality of skull size	6853	SYN1	OMIM:300491
HP:0000240	Abnormality of skull size	23169	SLC35D1	OMIM:269250
HP:0000240	Abnormality of skull size	23169	SLC35D1	ORPHA:3144
HP:0000240	Abnormality of skull size	2799	GNS	OMIM:252940
HP:0000240	Abnormality of skull size	55252	ASXL2	OMIM:617190
HP:0000240	Abnormality of skull size	777	CACNA1E	OMIM:618285
HP:0000240	Abnormality of skull size	4781	NFIB	OMIM:618286
HP:0000240	Abnormality of skull size	3295	HSD17B4	OMIM:261515
HP:0000240	Abnormality of skull size	7474	WNT5A	OMIM:180700
HP:0000240	Abnormality of skull size	7474	WNT5A	ORPHA:3107
HP:0000240	Abnormality of skull size	9897	WASHC5	ORPHA:7
HP:0000240	Abnormality of skull size	23299	BICD2	OMIM:618291
HP:0000240	Abnormality of skull size	6913	TBX15	OMIM:260660
HP:0000240	Abnormality of skull size	6913	TBX15	ORPHA:93333
HP:0000240	Abnormality of skull size	161742	SPRED1	ORPHA:137605
HP:0000240	Abnormality of skull size	161742	SPRED1	OMIM:611431
HP:0000240	Abnormality of skull size	2077	ERF	OMIM:600775
HP:0000240	Abnormality of skull size	894	CCND2	ORPHA:83473
HP:0000240	Abnormality of skull size	894	CCND2	OMIM:615938
HP:0000240	Abnormality of skull size	5296	PIK3R2	ORPHA:83473
HP:0000240	Abnormality of skull size	5296	PIK3R2	OMIM:603387
HP:0000240	Abnormality of skull size	10000	AKT3	ORPHA:83473
HP:0000240	Abnormality of skull size	10000	AKT3	ORPHA:99802
HP:0000240	Abnormality of skull size	10000	AKT3	OMIM:615937
HP:0000240	Abnormality of skull size	84282	RNF135	ORPHA:137634
HP:0000240	Abnormality of skull size	57539	WDR35	OMIM:613610
HP:0000240	Abnormality of skull size	57539	WDR35	ORPHA:93271
HP:0000240	Abnormality of skull size	5894	RAF1	OMIM:611553
HP:0000240	Abnormality of skull size	118429	ANTXR2	ORPHA:2176
HP:0000240	Abnormality of skull size	8854	ALDH1A2	OMIM:620025
HP:0000240	Abnormality of skull size	4774	NFIA	OMIM:613735
HP:0000240	Abnormality of skull size	4774	NFIA	ORPHA:401986
HP:0000240	Abnormality of skull size	4983	OPHN1	OMIM:300486
HP:0000240	Abnormality of skull size	55112	DYNC2I1	ORPHA:93271
HP:0000240	Abnormality of skull size	55112	DYNC2I1	OMIM:615503
HP:0000240	Abnormality of skull size	57560	IFT80	ORPHA:93271
HP:0000240	Abnormality of skull size	79659	DYNC2H1	ORPHA:93271
HP:0000240	Abnormality of skull size	89891	DYNC2I2	ORPHA:93271
HP:0000240	Abnormality of skull size	5744	PTHLH	ORPHA:93387
HP:0000240	Abnormality of skull size	3239	HOXD13	ORPHA:93387
HP:0000240	Abnormality of skull size	55780	ERMARD	ORPHA:75857
HP:0000240	Abnormality of skull size	9739	SETD1A	OMIM:619056
HP:0000240	Abnormality of skull size	3070	HELLS	ORPHA:2268
HP:0000240	Abnormality of skull size	1789	DNMT3B	ORPHA:2268
HP:0000240	Abnormality of skull size	9841	ZBTB24	ORPHA:2268
HP:0000240	Abnormality of skull size	4036	LRP2	ORPHA:2143
HP:0000240	Abnormality of skull size	4036	LRP2	OMIM:222448
HP:0000240	Abnormality of skull size	1906	EDN1	ORPHA:137888
HP:0000240	Abnormality of skull size	5332	PLCB4	ORPHA:137888
HP:0000240	Abnormality of skull size	5332	PLCB4	OMIM:614669
HP:0000240	Abnormality of skull size	657	BMPR1A	ORPHA:79076
HP:0000240	Abnormality of skull size	3425	IDUA	OMIM:607014
HP:0000240	Abnormality of skull size	4853	NOTCH2	ORPHA:955
HP:0000240	Abnormality of skull size	1857	DVL3	ORPHA:3107
HP:0000240	Abnormality of skull size	1857	DVL3	OMIM:616894
HP:0000240	Abnormality of skull size	2535	FZD2	ORPHA:3107
HP:0000240	Abnormality of skull size	81031	SLC2A10	ORPHA:3342
HP:0000240	Abnormality of skull size	22859	ADGRL1	OMIM:620065
HP:0000240	Abnormality of skull size	6609	SMPD1	OMIM:257200
HP:0000240	Abnormality of skull size	728294	D2HGDH	OMIM:600721
HP:0000240	Abnormality of skull size	6558	SLC12A2	OMIM:619081
HP:0000240	Abnormality of skull size	9555	MACROH2A1	ORPHA:1275
HP:0000240	Abnormality of skull size	5307	PITX1	ORPHA:1275
HP:0000240	Abnormality of skull size	5340	PLG	OMIM:217090
HP:0000240	Abnormality of skull size	34	ACADM	ORPHA:42
HP:0000240	Abnormality of skull size	254065	BRWD3	OMIM:300659
HP:0000240	Abnormality of skull size	26047	CNTNAP2	OMIM:610042
HP:0000240	Abnormality of skull size	2146	EZH2	OMIM:277590
HP:0000240	Abnormality of skull size	2146	EZH2	ORPHA:3447
HP:0000240	Abnormality of skull size	2776	GNAQ	ORPHA:3205
HP:0000240	Abnormality of skull size	2776	GNAQ	OMIM:185300
HP:0000240	Abnormality of skull size	5781	PTPN11	OMIM:151100
HP:0000240	Abnormality of skull size	23590	PDSS1	OMIM:614651
HP:0000240	Abnormality of skull size	84627	ZNF469	OMIM:229200
HP:0000240	Abnormality of skull size	132	ADK	OMIM:614300
HP:0000240	Abnormality of skull size	4038	LRP4	OMIM:614305
HP:0000240	Abnormality of skull size	11133	KPTN	OMIM:615637
HP:0000240	Abnormality of skull size	11133	KPTN	ORPHA:397612
HP:0000240	Abnormality of skull size	10586	MAB21L2	OMIM:615877
HP:0000240	Abnormality of skull size	23028	KDM1A	OMIM:616728
HP:0000240	Abnormality of skull size	23028	KDM1A	ORPHA:477993
HP:0000240	Abnormality of skull size	4591	TRIM37	ORPHA:2576
HP:0000240	Abnormality of skull size	411	ARSB	OMIM:253200
HP:0000240	Abnormality of skull size	84162	BLTP1	OMIM:617822
HP:0000240	Abnormality of skull size	4893	NRAS	OMIM:613224
HP:0000240	Abnormality of skull size	5339	PLEC	OMIM:612138
HP:0000240	Abnormality of skull size	64221	ROBO3	OMIM:607313
HP:0000240	Abnormality of skull size	11253	MAN1B1	OMIM:614202
HP:0000240	Abnormality of skull size	5604	MAP2K1	ORPHA:1340
HP:0000240	Abnormality of skull size	5605	MAP2K2	ORPHA:1340
HP:0000240	Abnormality of skull size	1000	CDH2	OMIM:618929
HP:0000240	Abnormality of skull size	6907	TBL1X	OMIM:301033
HP:0000240	Abnormality of skull size	3758	KCNJ1	OMIM:241200
HP:0000240	Abnormality of skull size	860	RUNX2	ORPHA:1452
HP:0000240	Abnormality of skull size	139285	AMER1	ORPHA:2780
HP:0000240	Abnormality of skull size	139285	AMER1	OMIM:300373
HP:0000240	Abnormality of skull size	2313	FLI1	ORPHA:2308
HP:0000240	Abnormality of skull size	4758	NEU1	ORPHA:93400
HP:0000240	Abnormality of skull size	3747	KCNC2	OMIM:619913
HP:0000240	Abnormality of skull size	91461	PKDCC	OMIM:618821
HP:0000240	Abnormality of skull size	23209	MLC1	OMIM:604004
HP:0000240	Abnormality of skull size	10020	GNE	OMIM:269921
HP:0000240	Abnormality of skull size	51317	PHF21A	OMIM:618725
HP:0000240	Abnormality of skull size	2990	GUSB	OMIM:253220
HP:0000240	Abnormality of skull size	55315	SLC29A3	ORPHA:1782
HP:0000240	Abnormality of skull size	8139	GAN	OMIM:256850
HP:0000240	Abnormality of skull size	23102	TBC1D2B	ORPHA:397973
HP:0000240	Abnormality of skull size	10464	PIBF1	OMIM:617767
HP:0000240	Abnormality of skull size	10736	SIX2	ORPHA:488437
HP:0000240	Abnormality of skull size	2108	ETFA	OMIM:231680
HP:0000240	Abnormality of skull size	2109	ETFB	OMIM:231680
HP:0000240	Abnormality of skull size	2110	ETFDH	OMIM:231680
HP:0000240	Abnormality of skull size	2670	GFAP	OMIM:203450
HP:0000240	Abnormality of skull size	2670	GFAP	ORPHA:363717
HP:0000240	Abnormality of skull size	5290	PIK3CA	OMIM:615108
HP:0000240	Abnormality of skull size	5290	PIK3CA	OMIM:602501
HP:0000240	Abnormality of skull size	207	AKT1	OMIM:615109
HP:0000240	Abnormality of skull size	3074	HEXB	ORPHA:309155
HP:0000240	Abnormality of skull size	8036	SHOC2	OMIM:607721
HP:0000240	Abnormality of skull size	324	APC	ORPHA:261584
HP:0000240	Abnormality of skull size	28981	IFT81	OMIM:617895
HP:0000240	Abnormality of skull size	8216	LZTR1	OMIM:616564
HP:0000240	Abnormality of skull size	8216	LZTR1	OMIM:605275
HP:0000240	Abnormality of skull size	6016	RIT1	OMIM:615355
HP:0000240	Abnormality of skull size	673	BRAF	OMIM:115150
HP:0000240	Abnormality of skull size	23363	OBSL1	OMIM:612921
HP:0000240	Abnormality of skull size	4796	TONSL	ORPHA:93357
HP:0000240	Abnormality of skull size	4796	TONSL	OMIM:271510
HP:0000240	Abnormality of skull size	2887	GRB10	ORPHA:96182
HP:0000240	Abnormality of skull size	4000	LMNA	ORPHA:740
HP:0000240	Abnormality of skull size	10269	ZMPSTE24	ORPHA:740
HP:0000240	Abnormality of skull size	283120	H19	ORPHA:231140
HP:0000240	Abnormality of skull size	283120	H19	ORPHA:231144
HP:0000240	Abnormality of skull size	9321	TRIP11	OMIM:184260
HP:0000240	Abnormality of skull size	6651	SON	OMIM:617140
HP:0000240	Abnormality of skull size	6651	SON	ORPHA:500150
HP:0000240	Abnormality of skull size	83737	ITCH	OMIM:613385
HP:0000240	Abnormality of skull size	83737	ITCH	ORPHA:228426
HP:0000240	Abnormality of skull size	28952	CCDC22	OMIM:300963
HP:0000240	Abnormality of skull size	1028	CDKN1C	ORPHA:397590
HP:0000240	Abnormality of skull size	5324	PLAG1	ORPHA:397590
HP:0000240	Abnormality of skull size	8239	USP9X	OMIM:300919
HP:0000240	Abnormality of skull size	5500	PPP1CB	OMIM:617506
HP:0000240	Abnormality of skull size	6662	SOX9	OMIM:114290
HP:0000240	Abnormality of skull size	176	ACAN	ORPHA:171866
HP:0000240	Abnormality of skull size	176	ACAN	OMIM:612813
HP:0000240	Abnormality of skull size	4286	MITF	OMIM:617306
HP:0000240	Abnormality of skull size	9968	MED12	OMIM:305450
HP:0000240	Abnormality of skull size	3911	LAMA5	OMIM:620076
HP:0000240	Abnormality of skull size	11128	POLR3A	ORPHA:3455
HP:0000240	Abnormality of skull size	57231	SNX14	ORPHA:397709
HP:0000240	Abnormality of skull size	57231	SNX14	OMIM:616354
HP:0000240	Abnormality of skull size	57020	VPS35L	OMIM:619135
HP:0000240	Abnormality of skull size	10940	POP1	OMIM:617396
HP:0000240	Abnormality of skull size	153241	CEP120	OMIM:616300
HP:0000240	Abnormality of skull size	64359	NXN	OMIM:618529
HP:0000240	Abnormality of skull size	1795	DOCK3	OMIM:618292
HP:0000240	Abnormality of skull size	4982	TNFRSF11B	OMIM:239000
HP:0000240	Abnormality of skull size	3549	IHH	OMIM:607778
HP:0000240	Abnormality of skull size	633	BGN	OMIM:300989
HP:0000240	Abnormality of skull size	22808	MRAS	OMIM:618499
HP:0000240	Abnormality of skull size	55331	ACER3	OMIM:617762
HP:0000240	Abnormality of skull size	7067	THRA	OMIM:614450
HP:0000240	Abnormality of skull size	3930	LBR	OMIM:618019
HP:0000240	Abnormality of skull size	871	SERPINH1	OMIM:613848
HP:0000240	Abnormality of skull size	1801	DPH1	ORPHA:459061
HP:0000240	Abnormality of skull size	1967	EIF2B1	OMIM:603896
HP:0000240	Abnormality of skull size	7337	UBE3A	ORPHA:98794
HP:0000240	Abnormality of skull size	7337	UBE3A	ORPHA:98795
HP:0000240	Abnormality of skull size	7337	UBE3A	ORPHA:411511
HP:0000240	Abnormality of skull size	7337	UBE3A	ORPHA:411515
HP:0000240	Abnormality of skull size	4948	OCA2	ORPHA:98794
HP:0000240	Abnormality of skull size	57194	ATP10A	ORPHA:411515
HP:0000240	Abnormality of skull size	4953	ODC1	OMIM:619075
HP:0000240	Abnormality of skull size	23556	PIGN	ORPHA:280633
HP:0000240	Abnormality of skull size	274	BIN1	ORPHA:169189
HP:0000240	Abnormality of skull size	64419	MTMR14	ORPHA:169189
HP:0000240	Abnormality of skull size	4618	MYF6	ORPHA:169189
HP:0000240	Abnormality of skull size	1785	DNM2	ORPHA:169189
HP:0000240	Abnormality of skull size	6261	RYR1	ORPHA:169189
HP:0000240	Abnormality of skull size	54914	FOCAD	OMIM:619991
HP:0000240	Abnormality of skull size	9853	RUSC2	OMIM:617773
HP:0000240	Abnormality of skull size	83700	JAM3	OMIM:613730
HP:0000240	Abnormality of skull size	53616	ADAM22	OMIM:617933
HP:0000240	Abnormality of skull size	6571	SLC18A2	ORPHA:352649
HP:0000240	Abnormality of skull size	22854	NTNG1	ORPHA:3095
HP:0000240	Abnormality of skull size	55610	VPS50	OMIM:619685
HP:0000240	Abnormality of skull size	51506	UFC1	OMIM:618076
HP:0000240	Abnormality of skull size	6392	SDHD	OMIM:619167
HP:0000240	Abnormality of skull size	9915	ARNT2	OMIM:615926
HP:0000240	Abnormality of skull size	271	AMPD2	OMIM:615809
HP:0000240	Abnormality of skull size	79068	FTO	OMIM:612938
HP:0000240	Abnormality of skull size	22796	COG2	OMIM:617395
HP:0000240	Abnormality of skull size	22796	COG2	ORPHA:435934
HP:0000240	Abnormality of skull size	9512	PMPCB	OMIM:617954
HP:0000240	Abnormality of skull size	5119	CHMP1A	OMIM:614961
HP:0000240	Abnormality of skull size	9692	PRORP	OMIM:619737
HP:0000240	Abnormality of skull size	8560	DEGS1	OMIM:618404
HP:0000240	Abnormality of skull size	55858	TMEM165	OMIM:614727
HP:0000240	Abnormality of skull size	54675	CRLS1	OMIM:620167
HP:0000240	Abnormality of skull size	8604	SLC25A12	OMIM:612949
HP:0000240	Abnormality of skull size	10087	CERT1	OMIM:616351
HP:0000240	Abnormality of skull size	22884	WDR37	OMIM:618652
HP:0000240	Abnormality of skull size	2903	GRIN2A	ORPHA:289266
HP:0000240	Abnormality of skull size	3188	HNRNPH2	OMIM:300986
HP:0000240	Abnormality of skull size	1641	DCX	ORPHA:2148
HP:0000240	Abnormality of skull size	11212	PLPBP	OMIM:617290
HP:0000240	Abnormality of skull size	51501	HIKESHI	OMIM:616881
HP:0000240	Abnormality of skull size	57468	SLC12A5	OMIM:616645
HP:0000240	Abnormality of skull size	4659	PPP1R12A	OMIM:618820
HP:0000240	Abnormality of skull size	10236	HNRNPR	OMIM:620073
HP:0000240	Abnormality of skull size	56947	MFF	ORPHA:485421
HP:0000240	Abnormality of skull size	56947	MFF	OMIM:617086
HP:0000240	Abnormality of skull size	539	ATP5PO	OMIM:620359
HP:0000240	Abnormality of skull size	9440	MED17	OMIM:613668
HP:0000240	Abnormality of skull size	118924	FRA10AC1	OMIM:620113
HP:0000240	Abnormality of skull size	8813	DPM1	OMIM:608799
HP:0000240	Abnormality of skull size	8813	DPM1	ORPHA:79322
HP:0000240	Abnormality of skull size	125988	MICOS13	OMIM:618329
HP:0000240	Abnormality of skull size	1719	DHFR	OMIM:613839
HP:0000240	Abnormality of skull size	10079	ATP9A	OMIM:620242
HP:0000240	Abnormality of skull size	205327	C2orf69	OMIM:619423
HP:0000240	Abnormality of skull size	1496	CTNNA2	OMIM:618174
HP:0000240	Abnormality of skull size	51693	TRAPPC2L	OMIM:618331
HP:0000240	Abnormality of skull size	57017	COQ9	OMIM:614654
HP:0000240	Abnormality of skull size	27429	HTRA2	OMIM:617248
HP:0000240	Abnormality of skull size	3329	HSPD1	OMIM:612233
HP:0000240	Abnormality of skull size	55770	EXOC2	OMIM:619306
HP:0000240	Abnormality of skull size	2744	GLS	OMIM:618339
HP:0000240	Abnormality of skull size	5058	PAK1	OMIM:618158
HP:0000240	Abnormality of skull size	63901	FAM111A	ORPHA:93325
HP:0000240	Abnormality of skull size	80347	COASY	OMIM:618266
HP:0000240	Abnormality of skull size	8405	SPOP	OMIM:618828
HP:0000240	Abnormality of skull size	51124	IER3IP1	OMIM:614231
HP:0000240	Abnormality of skull size	9918	NCAPD2	OMIM:617983
HP:0000240	Abnormality of skull size	27185	DISC1	ORPHA:171703
HP:0000240	Abnormality of skull size	8320	EOMES	ORPHA:171703
HP:0000240	Abnormality of skull size	1984	EIF5A	OMIM:619376
HP:0000240	Abnormality of skull size	23511	NUP188	OMIM:618804
HP:0000240	Abnormality of skull size	10015	PDCD6IP	OMIM:620047
HP:0000240	Abnormality of skull size	6045	RNF2	OMIM:619460
HP:0000240	Abnormality of skull size	84823	LMNB2	OMIM:619180
HP:0000240	Abnormality of skull size	55697	VAC14	ORPHA:3472
HP:0000240	Abnormality of skull size	79023	NUP37	OMIM:618179
HP:0000240	Abnormality of skull size	4905	NSF	OMIM:619340
HP:0000240	Abnormality of skull size	5283	PIGH	OMIM:618010
HP:0000240	Abnormality of skull size	9181	ARHGEF2	OMIM:617523
HP:0000240	Abnormality of skull size	8738	CRADD	OMIM:614499
HP:0000240	Abnormality of skull size	2639	GCDH	ORPHA:25
HP:0000240	Abnormality of skull size	8792	TNFRSF11A	OMIM:612301
HP:0000240	Abnormality of skull size	84992	PIGY	ORPHA:247262
HP:0000240	Abnormality of skull size	284098	PIGW	ORPHA:247262
HP:0000240	Abnormality of skull size	55650	PIGV	ORPHA:247262
HP:0000240	Abnormality of skull size	9487	PIGL	ORPHA:247262
HP:0000240	Abnormality of skull size	1280	COL2A1	ORPHA:94068
HP:0000240	Abnormality of skull size	2581	GALC	ORPHA:206436
HP:0000240	Abnormality of skull size	5660	PSAP	ORPHA:206436
HP:0000240	Abnormality of skull size	4841	NONO	OMIM:300967
HP:0000240	Abnormality of skull size	10297	APC2	ORPHA:821
HP:0000240	Abnormality of skull size	23309	SIN3B	ORPHA:500166
HP:0000240	Abnormality of skull size	57589	RIC1	OMIM:618761
HP:0000240	Abnormality of skull size	387119	CEP85L	OMIM:618873
HP:0000240	Abnormality of skull size	55280	CWF19L1	ORPHA:453521
HP:0000240	Abnormality of skull size	55280	CWF19L1	OMIM:616127
HP:0000240	Abnormality of skull size	6389	SDHA	ORPHA:3208
HP:0000240	Abnormality of skull size	644096	SDHAF1	ORPHA:3208
HP:0000243	Trigonocephaly	60	ACTB	OMIM:243310
HP:0000243	Trigonocephaly	60	ACTB	ORPHA:2995
HP:0000243	Trigonocephaly	2737	GLI3	ORPHA:672
HP:0000243	Trigonocephaly	2737	GLI3	OMIM:175700
HP:0000243	Trigonocephaly	23394	ADNP	ORPHA:404448
HP:0000243	Trigonocephaly	5977	DPF2	OMIM:618027
HP:0000243	Trigonocephaly	71	ACTG1	OMIM:614583
HP:0000243	Trigonocephaly	71	ACTG1	ORPHA:2995
HP:0000243	Trigonocephaly	3590	IL11RA	OMIM:614188
HP:0000243	Trigonocephaly	5530	PPP3CA	OMIM:618265
HP:0000243	Trigonocephaly	26005	C2CD3	ORPHA:434179
HP:0000243	Trigonocephaly	26005	C2CD3	OMIM:615948
HP:0000243	Trigonocephaly	6659	SOX4	OMIM:618506
HP:0000243	Trigonocephaly	8818	DPM2	ORPHA:329178
HP:0000243	Trigonocephaly	114803	MYSM1	ORPHA:508542
HP:0000243	Trigonocephaly	8050	PDHX	OMIM:245349
HP:0000243	Trigonocephaly	80816	ASXL3	OMIM:615485
HP:0000243	Trigonocephaly	6536	SLC6A9	OMIM:617301
HP:0000243	Trigonocephaly	2263	FGFR2	ORPHA:168624
HP:0000243	Trigonocephaly	10225	CD96	OMIM:211750
HP:0000243	Trigonocephaly	10225	CD96	ORPHA:1308
HP:0000243	Trigonocephaly	79158	GNPTAB	OMIM:252500
HP:0000243	Trigonocephaly	4488	MSX2	OMIM:604757
HP:0000243	Trigonocephaly	4001	LMNB1	OMIM:619179
HP:0000243	Trigonocephaly	158326	FREM1	OMIM:614485
HP:0000243	Trigonocephaly	158326	FREM1	ORPHA:3366
HP:0000243	Trigonocephaly	5925	RB1	ORPHA:1587
HP:0000243	Trigonocephaly	23229	ARHGEF9	ORPHA:163985
HP:0000243	Trigonocephaly	23229	ARHGEF9	OMIM:300607
HP:0000243	Trigonocephaly	23511	NUP188	OMIM:618804
HP:0000243	Trigonocephaly	7874	USP7	OMIM:616863
HP:0000243	Trigonocephaly	1108	CHD4	OMIM:617159
HP:0000243	Trigonocephaly	1801	DPH1	OMIM:616901
HP:0000243	Trigonocephaly	1801	DPH1	ORPHA:459061
HP:0000243	Trigonocephaly	201163	FLCN	OMIM:610883
HP:0000243	Trigonocephaly	2260	FGFR1	OMIM:190440
HP:0000243	Trigonocephaly	2260	FGFR1	ORPHA:3366
HP:0000243	Trigonocephaly	8813	DPM1	ORPHA:79322
HP:0000243	Trigonocephaly	5351	PLOD1	ORPHA:1900
HP:0000243	Trigonocephaly	5727	PTCH1	ORPHA:77301
HP:0000243	Trigonocephaly	7546	ZIC2	OMIM:609637
HP:0000243	Trigonocephaly	171023	ASXL1	ORPHA:97297
HP:0000243	Trigonocephaly	171023	ASXL1	OMIM:605039
HP:0000243	Trigonocephaly	84823	LMNB2	OMIM:619180
HP:0000243	Trigonocephaly	404672	GTF2H5	OMIM:616395
HP:0000243	Trigonocephaly	9742	IFT140	OMIM:266920
HP:0000243	Trigonocephaly	9758	FRMPD4	OMIM:300983
HP:0000243	Trigonocephaly	1954	MEGF8	OMIM:614976
HP:0000243	Trigonocephaly	2719	GPC3	OMIM:312870
HP:0000243	Trigonocephaly	2239	GPC4	OMIM:312870
HP:0000243	Trigonocephaly	9343	EFTUD2	OMIM:610536
HP:0000243	Trigonocephaly	9343	EFTUD2	ORPHA:79113
HP:0000243	Trigonocephaly	2313	FLI1	ORPHA:2308
HP:0000243	Trigonocephaly	10075	HUWE1	OMIM:309590
HP:0000244	Brachyturricephaly	9401	RECQL4	OMIM:218600
HP:0000244	Brachyturricephaly	9401	RECQL4	ORPHA:1225
HP:0000244	Brachyturricephaly	6497	SKI	OMIM:182212
HP:0000244	Brachyturricephaly	2263	FGFR2	ORPHA:87
HP:0000244	Brachyturricephaly	2263	FGFR2	ORPHA:93260
HP:0000244	Brachyturricephaly	2263	FGFR2	OMIM:101600
HP:0000244	Brachyturricephaly	2263	FGFR2	OMIM:101200
HP:0000244	Brachyturricephaly	6857	SYT1	ORPHA:522077
HP:0000244	Brachyturricephaly	2260	FGFR1	OMIM:101600
HP:0000244	Brachyturricephaly	2273	FHL1	OMIM:300280
HP:0000244	Brachyturricephaly	5189	PEX1	OMIM:214100
HP:0000244	Brachyturricephaly	121340	SP7	OMIM:613849
HP:0000244	Brachyturricephaly	56975	FAM20C	OMIM:259775
HP:0000245	Abnormal paranasal sinus morphology	100	ADA	ORPHA:277
HP:0000245	Abnormal paranasal sinus morphology	100	ADA	OMIM:102700
HP:0000245	Abnormal paranasal sinus morphology	1789	DNMT3B	OMIM:242860
HP:0000245	Abnormal paranasal sinus morphology	4683	NBN	OMIM:251260
HP:0000245	Abnormal paranasal sinus morphology	2332	FMR1	ORPHA:908
HP:0000245	Abnormal paranasal sinus morphology	4860	PNP	OMIM:613179
HP:0000245	Abnormal paranasal sinus morphology	7456	WIPF1	ORPHA:906
HP:0000245	Abnormal paranasal sinus morphology	1493	CTLA4	ORPHA:900
HP:0000245	Abnormal paranasal sinus morphology	26191	PTPN22	ORPHA:900
HP:0000245	Abnormal paranasal sinus morphology	3115	HLA-DPB1	ORPHA:900
HP:0000245	Abnormal paranasal sinus morphology	5657	PRTN3	ORPHA:900
HP:0000245	Abnormal paranasal sinus morphology	3113	HLA-DPA1	ORPHA:900
HP:0000245	Abnormal paranasal sinus morphology	3561	IL2RG	OMIM:312863
HP:0000245	Abnormal paranasal sinus morphology	6804	STX1A	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	2947	GSTM3	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	2729	GCLC	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	1084	CEACAM3	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	6556	SLC11A1	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	51164	DCTN4	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	3783	KCNN4	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	4282	MIF	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	1909	EDNRA	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	6550	SLC9A3	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	3162	HMOX1	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	115019	SLC26A9	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	3077	HFE	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	11254	SLC6A14	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	5265	SERPINA1	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	22802	CLCA4	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	4680	CEACAM6	ORPHA:586
HP:0000245	Abnormal paranasal sinus morphology	472	ATM	OMIM:208900
HP:0000245	Abnormal paranasal sinus morphology	1536	CYBB	ORPHA:379
HP:0000245	Abnormal paranasal sinus morphology	4688	NCF2	ORPHA:379
HP:0000245	Abnormal paranasal sinus morphology	1535	CYBA	ORPHA:379
HP:0000245	Abnormal paranasal sinus morphology	653361	NCF1	ORPHA:379
HP:0000245	Abnormal paranasal sinus morphology	79415	CYBC1	ORPHA:379
HP:0000245	Abnormal paranasal sinus morphology	1991	ELANE	ORPHA:2686
HP:0000245	Abnormal paranasal sinus morphology	134218	DNAJC21	ORPHA:811
HP:0000245	Abnormal paranasal sinus morphology	79631	EFL1	ORPHA:811
HP:0000245	Abnormal paranasal sinus morphology	51119	SBDS	ORPHA:811
HP:0000245	Abnormal paranasal sinus morphology	6729	SRP54	ORPHA:811
HP:0000245	Abnormal paranasal sinus morphology	5994	RFXAP	ORPHA:572
HP:0000245	Abnormal paranasal sinus morphology	4261	CIITA	ORPHA:572
HP:0000245	Abnormal paranasal sinus morphology	5993	RFX5	ORPHA:572
HP:0000245	Abnormal paranasal sinus morphology	8625	RFXANK	ORPHA:572
HP:0000245	Abnormal paranasal sinus morphology	5692	PSMB4	OMIM:617591
HP:0000245	Abnormal paranasal sinus morphology	5698	PSMB9	OMIM:617591
HP:0000245	Abnormal paranasal sinus morphology	3394	IRF8	OMIM:226990
HP:0000245	Abnormal paranasal sinus morphology	7852	CXCR4	ORPHA:51636
HP:0000245	Abnormal paranasal sinus morphology	3321	IGSF3	OMIM:149700
HP:0000245	Abnormal paranasal sinus morphology	6929	TCF3	ORPHA:33110
HP:0000245	Abnormal paranasal sinus morphology	973	CD79A	ORPHA:33110
HP:0000245	Abnormal paranasal sinus morphology	3543	IGLL1	ORPHA:33110
HP:0000245	Abnormal paranasal sinus morphology	5295	PIK3R1	ORPHA:33110
HP:0000245	Abnormal paranasal sinus morphology	56262	LRRC8A	ORPHA:33110
HP:0000245	Abnormal paranasal sinus morphology	1513	CTSK	OMIM:265800
HP:0000245	Abnormal paranasal sinus morphology	4853	NOTCH2	OMIM:102500
HP:0000245	Abnormal paranasal sinus morphology	4853	NOTCH2	ORPHA:955
HP:0000245	Abnormal paranasal sinus morphology	546	ATRX	OMIM:301040
HP:0000245	Abnormal paranasal sinus morphology	4591	TRIM37	OMIM:253250
HP:0000245	Abnormal paranasal sinus morphology	257	ALX3	OMIM:136760
HP:0000245	Abnormal paranasal sinus morphology	257	ALX3	ORPHA:391474
HP:0000245	Abnormal paranasal sinus morphology	175	AGA	OMIM:208400
HP:0000245	Abnormal paranasal sinus morphology	1301	COL11A1	ORPHA:560
HP:0000245	Abnormal paranasal sinus morphology	860	RUNX2	OMIM:119600
HP:0000245	Abnormal paranasal sinus morphology	6424	SFRP4	OMIM:265900
HP:0000245	Abnormal paranasal sinus morphology	2316	FLNA	ORPHA:90650
HP:0000245	Abnormal paranasal sinus morphology	2316	FLNA	ORPHA:90652
HP:0000245	Abnormal paranasal sinus morphology	10736	SIX2	ORPHA:488437
HP:0000245	Abnormal paranasal sinus morphology	2517	FUCA1	OMIM:230000
HP:0000245	Abnormal paranasal sinus morphology	5573	PRKAR1A	ORPHA:280651
HP:0000245	Abnormal paranasal sinus morphology	5144	PDE4D	ORPHA:280651
HP:0000245	Abnormal paranasal sinus morphology	3759	KCNJ2	OMIM:170390
HP:0000245	Abnormal paranasal sinus morphology	9526	MPDU1	ORPHA:79323
HP:0000245	Abnormal paranasal sinus morphology	139285	AMER1	OMIM:300373
HP:0000245	Abnormal paranasal sinus morphology	23347	SMCHD1	OMIM:603457
HP:0000245	Abnormal paranasal sinus morphology	8092	ALX1	ORPHA:306542
HP:0000245	Abnormal paranasal sinus morphology	7840	ALMS1	ORPHA:64
HP:0000245	Abnormal paranasal sinus morphology	30011	SH3KBP1	OMIM:300310
HP:0000245	Abnormal paranasal sinus morphology	7454	WAS	OMIM:301000
HP:0000245	Abnormal paranasal sinus morphology	4791	NFKB2	ORPHA:293978
HP:0000245	Abnormal paranasal sinus morphology	4791	NFKB2	OMIM:615577
HP:0000245	Abnormal paranasal sinus morphology	695	BTK	OMIM:300755
HP:0000245	Abnormal paranasal sinus morphology	930	CD19	OMIM:613493
HP:0000245	Abnormal paranasal sinus morphology	930	CD19	OMIM:240500
HP:0000245	Abnormal paranasal sinus morphology	115650	TNFRSF13C	OMIM:613494
HP:0000245	Abnormal paranasal sinus morphology	115650	TNFRSF13C	OMIM:240500
HP:0000245	Abnormal paranasal sinus morphology	5580	PRKCD	OMIM:615559
HP:0000245	Abnormal paranasal sinus morphology	5880	RAC2	OMIM:618986
HP:0000245	Abnormal paranasal sinus morphology	987	LRBA	OMIM:614700
HP:0000245	Abnormal paranasal sinus morphology	3426	CFI	OMIM:610984
HP:0000245	Abnormal paranasal sinus morphology	54499	TMCO1	OMIM:213980
HP:0000245	Abnormal paranasal sinus morphology	9094	UNC119	OMIM:615518
HP:0000245	Abnormal paranasal sinus morphology	79650	USB1	OMIM:604173
HP:0000245	Abnormal paranasal sinus morphology	5293	PIK3CD	OMIM:619281
HP:0000245	Abnormal paranasal sinus morphology	3507	IGHM	OMIM:601495
HP:0000245	Abnormal paranasal sinus morphology	1289	COL5A1	OMIM:130000
HP:0000245	Abnormal paranasal sinus morphology	6813	STXBP2	OMIM:613101
HP:0000245	Abnormal paranasal sinus morphology	51816	ADA2	OMIM:615688
HP:0000245	Abnormal paranasal sinus morphology	4790	NFKB1	OMIM:616576
HP:0000245	Abnormal paranasal sinus morphology	50615	IL21R	OMIM:615207
HP:0000245	Abnormal paranasal sinus morphology	85452	CFAP74	OMIM:620197
HP:0000245	Abnormal paranasal sinus morphology	8382	NME5	OMIM:620032
HP:0000245	Abnormal paranasal sinus morphology	29851	ICOS	OMIM:607594
HP:0000245	Abnormal paranasal sinus morphology	29851	ICOS	OMIM:240500
HP:0000245	Abnormal paranasal sinus morphology	84905	ZNF341	OMIM:618282
HP:0000245	Abnormal paranasal sinus morphology	54	ACP5	OMIM:607944
HP:0000245	Abnormal paranasal sinus morphology	23495	TNFRSF13B	OMIM:240500
HP:0000245	Abnormal paranasal sinus morphology	1380	CR2	OMIM:240500
HP:0000245	Abnormal paranasal sinus morphology	84061	MAGT1	OMIM:300853
HP:0000245	Abnormal paranasal sinus morphology	1290	COL5A2	OMIM:130010
HP:0000245	Abnormal paranasal sinus morphology	10625	IVNS1ABP	OMIM:618969
HP:0000245	Abnormal paranasal sinus morphology	4194	MDM4	OMIM:618849
HP:0000245	Abnormal paranasal sinus morphology	3551	IKBKB	OMIM:618204
HP:0000245	Abnormal paranasal sinus morphology	23765	IL17RA	OMIM:613953
HP:0000245	Abnormal paranasal sinus morphology	6899	TBX1	OMIM:188400
HP:0000245	Abnormal paranasal sinus morphology	81704	DOCK8	OMIM:243700
HP:0000245	Abnormal paranasal sinus morphology	81704	DOCK8	ORPHA:217390
HP:0000245	Abnormal paranasal sinus morphology	721	C4B	OMIM:614379
HP:0000245	Abnormal paranasal sinus morphology	359948	IRF2BP2	OMIM:617765
HP:0000245	Abnormal paranasal sinus morphology	4689	NCF4	OMIM:613960
HP:0000245	Abnormal paranasal sinus morphology	6688	SPI1	OMIM:619707
HP:0000245	Abnormal paranasal sinus morphology	5696	PSMB8	OMIM:256040
HP:0000245	Abnormal paranasal sinus morphology	2214	FCGR3A	OMIM:615707
HP:0000245	Abnormal paranasal sinus morphology	27019	DNAI1	OMIM:244400
HP:0000245	Abnormal paranasal sinus morphology	27019	DNAI1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	85016	CFAP300	OMIM:618063
HP:0000245	Abnormal paranasal sinus morphology	85016	CFAP300	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	2212	FCGR2A	OMIM:219700
HP:0000245	Abnormal paranasal sinus morphology	7040	TGFB1	OMIM:219700
HP:0000245	Abnormal paranasal sinus morphology	1080	CFTR	OMIM:219700
HP:0000245	Abnormal paranasal sinus morphology	83538	ODAD4	OMIM:617092
HP:0000245	Abnormal paranasal sinus morphology	83538	ODAD4	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	92749	DRC1	OMIM:615294
HP:0000245	Abnormal paranasal sinus morphology	92749	DRC1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	1770	DNAH9	OMIM:618300
HP:0000245	Abnormal paranasal sinus morphology	1770	DNAH9	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	4256	MGP	OMIM:245150
HP:0000245	Abnormal paranasal sinus morphology	83861	RSPH3	OMIM:616481
HP:0000245	Abnormal paranasal sinus morphology	83861	RSPH3	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	6103	RPGR	OMIM:300455
HP:0000245	Abnormal paranasal sinus morphology	6103	RPGR	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	79848	CSPP1	OMIM:615636
HP:0000245	Abnormal paranasal sinus morphology	5238	PGM3	ORPHA:443811
HP:0000245	Abnormal paranasal sinus morphology	64446	DNAI2	OMIM:612444
HP:0000245	Abnormal paranasal sinus morphology	64446	DNAI2	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	6890	TAP1	OMIM:604571
HP:0000245	Abnormal paranasal sinus morphology	6891	TAP2	OMIM:604571
HP:0000245	Abnormal paranasal sinus morphology	6892	TAPBP	OMIM:604571
HP:0000245	Abnormal paranasal sinus morphology	54440	SASH3	OMIM:301082
HP:0000245	Abnormal paranasal sinus morphology	3514	IGKC	ORPHA:183675
HP:0000245	Abnormal paranasal sinus morphology	3501	IGHG2	ORPHA:183675
HP:0000245	Abnormal paranasal sinus morphology	3981	LIG4	OMIM:606593
HP:0000245	Abnormal paranasal sinus morphology	25981	DNAH1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	115948	ODAD3	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	115948	ODAD3	OMIM:616037
HP:0000245	Abnormal paranasal sinus morphology	54768	HYDIN	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	352909	DNAAF3	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	27148	STK36	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	51314	NME8	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	54970	TTC12	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	152110	NEK10	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	8481	OFD1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	2302	FOXJ1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	2302	FOXJ1	OMIM:618699
HP:0000245	Abnormal paranasal sinus morphology	221421	RSPH9	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	221421	RSPH9	OMIM:612650
HP:0000245	Abnormal paranasal sinus morphology	85478	CCDC65	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	85478	CCDC65	OMIM:615504
HP:0000245	Abnormal paranasal sinus morphology	55036	CCDC40	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	55036	CCDC40	OMIM:613808
HP:0000245	Abnormal paranasal sinus morphology	51364	ZMYND10	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	6674	SPAG1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	83544	DNAL1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	83544	DNAL1	OMIM:614017
HP:0000245	Abnormal paranasal sinus morphology	89765	RSPH1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	200373	CFAP221	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	374407	DNAJB13	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	55172	DNAAF2	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	55172	DNAAF2	OMIM:612518
HP:0000245	Abnormal paranasal sinus morphology	161582	DNAAF4	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	2622	GAS8	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	23639	DNAAF11	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	345895	RSPH4A	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	54919	DNAAF5	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	388389	CCDC103	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	388389	CCDC103	OMIM:614679
HP:0000245	Abnormal paranasal sinus morphology	93233	ODAD1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	55130	ODAD2	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	1767	DNAH5	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	345643	MCIDAS	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	56683	CFAP298	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	79925	SPEF2	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	10309	CCNO	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	115399	LRRC56	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	139212	DNAAF6	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	123872	DNAAF1	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	339829	CCDC39	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	339829	CCDC39	OMIM:613807
HP:0000245	Abnormal paranasal sinus morphology	8701	DNAH11	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	246176	GAS2L2	ORPHA:244
HP:0000245	Abnormal paranasal sinus morphology	974	CD79B	OMIM:612692
HP:0000245	Abnormal paranasal sinus morphology	146845	CFAP52	OMIM:619607
HP:0000245	Abnormal paranasal sinus morphology	25790	CFAP45	OMIM:619608
HP:0000245	Abnormal paranasal sinus morphology	29760	BLNK	OMIM:613502
HP:0000245	Abnormal paranasal sinus morphology	165918	RNF168	ORPHA:420741
HP:0000245	Abnormal paranasal sinus morphology	50940	PDE11A	ORPHA:1359
HP:0000245	Abnormal paranasal sinus morphology	4125	MAN2B1	ORPHA:309282
HP:0000245	Abnormal paranasal sinus morphology	4763	NF1	ORPHA:363700
HP:0000245	Abnormal paranasal sinus morphology	4763	NF1	ORPHA:97685
HP:0000246	Sinusitis	100	ADA	ORPHA:277
HP:0000246	Sinusitis	100	ADA	OMIM:102700
HP:0000246	Sinusitis	1789	DNMT3B	OMIM:242860
HP:0000246	Sinusitis	4683	NBN	OMIM:251260
HP:0000246	Sinusitis	2332	FMR1	ORPHA:908
HP:0000246	Sinusitis	4860	PNP	OMIM:613179
HP:0000246	Sinusitis	7454	WAS	ORPHA:906
HP:0000246	Sinusitis	7456	WIPF1	ORPHA:906
HP:0000246	Sinusitis	1493	CTLA4	ORPHA:900
HP:0000246	Sinusitis	26191	PTPN22	ORPHA:900
HP:0000246	Sinusitis	3115	HLA-DPB1	ORPHA:900
HP:0000246	Sinusitis	5657	PRTN3	ORPHA:900
HP:0000246	Sinusitis	3113	HLA-DPA1	ORPHA:900
HP:0000246	Sinusitis	3561	IL2RG	OMIM:312863
HP:0000246	Sinusitis	6804	STX1A	ORPHA:586
HP:0000246	Sinusitis	2947	GSTM3	ORPHA:586
HP:0000246	Sinusitis	7040	TGFB1	ORPHA:586
HP:0000246	Sinusitis	2729	GCLC	ORPHA:586
HP:0000246	Sinusitis	1084	CEACAM3	ORPHA:586
HP:0000246	Sinusitis	6556	SLC11A1	ORPHA:586
HP:0000246	Sinusitis	51164	DCTN4	ORPHA:586
HP:0000246	Sinusitis	3783	KCNN4	ORPHA:586
HP:0000246	Sinusitis	4282	MIF	ORPHA:586
HP:0000246	Sinusitis	1909	EDNRA	ORPHA:586
HP:0000246	Sinusitis	6550	SLC9A3	ORPHA:586
HP:0000246	Sinusitis	3162	HMOX1	ORPHA:586
HP:0000246	Sinusitis	115019	SLC26A9	ORPHA:586
HP:0000246	Sinusitis	3077	HFE	ORPHA:586
HP:0000246	Sinusitis	11254	SLC6A14	ORPHA:586
HP:0000246	Sinusitis	5265	SERPINA1	ORPHA:586
HP:0000246	Sinusitis	1080	CFTR	ORPHA:586
HP:0000246	Sinusitis	22802	CLCA4	ORPHA:586
HP:0000246	Sinusitis	4680	CEACAM6	ORPHA:586
HP:0000246	Sinusitis	472	ATM	OMIM:208900
HP:0000246	Sinusitis	1536	CYBB	ORPHA:379
HP:0000246	Sinusitis	4688	NCF2	ORPHA:379
HP:0000246	Sinusitis	1535	CYBA	ORPHA:379
HP:0000246	Sinusitis	4689	NCF4	ORPHA:379
HP:0000246	Sinusitis	653361	NCF1	ORPHA:379
HP:0000246	Sinusitis	79415	CYBC1	ORPHA:379
HP:0000246	Sinusitis	1991	ELANE	ORPHA:2686
HP:0000246	Sinusitis	134218	DNAJC21	ORPHA:811
HP:0000246	Sinusitis	79631	EFL1	ORPHA:811
HP:0000246	Sinusitis	51119	SBDS	ORPHA:811
HP:0000246	Sinusitis	6729	SRP54	ORPHA:811
HP:0000246	Sinusitis	695	BTK	ORPHA:47
HP:0000246	Sinusitis	695	BTK	OMIM:307200
HP:0000246	Sinusitis	5994	RFXAP	ORPHA:572
HP:0000246	Sinusitis	4261	CIITA	ORPHA:572
HP:0000246	Sinusitis	5993	RFX5	ORPHA:572
HP:0000246	Sinusitis	8625	RFXANK	ORPHA:572
HP:0000246	Sinusitis	4256	MGP	OMIM:245150
HP:0000246	Sinusitis	5692	PSMB4	OMIM:617591
HP:0000246	Sinusitis	5698	PSMB9	OMIM:617591
HP:0000246	Sinusitis	3394	IRF8	OMIM:226990
HP:0000246	Sinusitis	7852	CXCR4	ORPHA:51636
HP:0000246	Sinusitis	4763	NF1	ORPHA:363700
HP:0000246	Sinusitis	860	RUNX2	ORPHA:1452
HP:0000246	Sinusitis	51314	NME8	OMIM:610852
HP:0000246	Sinusitis	352909	DNAAF3	OMIM:606763
HP:0000246	Sinusitis	3321	IGSF3	OMIM:149700
HP:0000246	Sinusitis	6929	TCF3	ORPHA:33110
HP:0000246	Sinusitis	973	CD79A	ORPHA:33110
HP:0000246	Sinusitis	974	CD79B	ORPHA:33110
HP:0000246	Sinusitis	3543	IGLL1	ORPHA:33110
HP:0000246	Sinusitis	3507	IGHM	ORPHA:33110
HP:0000246	Sinusitis	29760	BLNK	ORPHA:33110
HP:0000246	Sinusitis	5295	PIK3R1	ORPHA:33110
HP:0000246	Sinusitis	56262	LRRC8A	ORPHA:33110
HP:0000246	Sinusitis	7840	ALMS1	ORPHA:64
HP:0000246	Sinusitis	30011	SH3KBP1	OMIM:300310
HP:0000246	Sinusitis	4791	NFKB2	ORPHA:293978
HP:0000246	Sinusitis	4791	NFKB2	OMIM:615577
HP:0000246	Sinusitis	930	CD19	OMIM:613493
HP:0000246	Sinusitis	930	CD19	OMIM:240500
HP:0000246	Sinusitis	115650	TNFRSF13C	OMIM:613494
HP:0000246	Sinusitis	115650	TNFRSF13C	OMIM:240500
HP:0000246	Sinusitis	5580	PRKCD	OMIM:615559
HP:0000246	Sinusitis	5880	RAC2	OMIM:618986
HP:0000246	Sinusitis	987	LRBA	OMIM:614700
HP:0000246	Sinusitis	3426	CFI	OMIM:610984
HP:0000246	Sinusitis	54499	TMCO1	OMIM:213980
HP:0000246	Sinusitis	9094	UNC119	OMIM:615518
HP:0000246	Sinusitis	79650	USB1	OMIM:604173
HP:0000246	Sinusitis	5293	PIK3CD	OMIM:619281
HP:0000246	Sinusitis	1289	COL5A1	OMIM:130000
HP:0000246	Sinusitis	6813	STXBP2	OMIM:613101
HP:0000246	Sinusitis	51816	ADA2	OMIM:615688
HP:0000246	Sinusitis	4790	NFKB1	OMIM:616576
HP:0000246	Sinusitis	50615	IL21R	OMIM:615207
HP:0000246	Sinusitis	85452	CFAP74	OMIM:620197
HP:0000246	Sinusitis	8382	NME5	OMIM:620032
HP:0000246	Sinusitis	29851	ICOS	OMIM:607594
HP:0000246	Sinusitis	29851	ICOS	OMIM:240500
HP:0000246	Sinusitis	84905	ZNF341	OMIM:618282
HP:0000246	Sinusitis	54	ACP5	OMIM:607944
HP:0000246	Sinusitis	23495	TNFRSF13B	OMIM:240500
HP:0000246	Sinusitis	1380	CR2	OMIM:240500
HP:0000246	Sinusitis	84061	MAGT1	OMIM:300853
HP:0000246	Sinusitis	1290	COL5A2	OMIM:130010
HP:0000246	Sinusitis	10625	IVNS1ABP	OMIM:618969
HP:0000246	Sinusitis	4194	MDM4	OMIM:618849
HP:0000246	Sinusitis	3551	IKBKB	OMIM:618204
HP:0000246	Sinusitis	23765	IL17RA	OMIM:613953
HP:0000246	Sinusitis	6899	TBX1	OMIM:188400
HP:0000246	Sinusitis	81704	DOCK8	OMIM:243700
HP:0000246	Sinusitis	81704	DOCK8	ORPHA:217390
HP:0000246	Sinusitis	721	C4B	OMIM:614379
HP:0000246	Sinusitis	359948	IRF2BP2	OMIM:617765
HP:0000246	Sinusitis	6688	SPI1	OMIM:619707
HP:0000246	Sinusitis	5696	PSMB8	OMIM:256040
HP:0000246	Sinusitis	2214	FCGR3A	OMIM:615707
HP:0000246	Sinusitis	27019	DNAI1	OMIM:244400
HP:0000246	Sinusitis	27019	DNAI1	ORPHA:244
HP:0000246	Sinusitis	85016	CFAP300	OMIM:618063
HP:0000246	Sinusitis	85016	CFAP300	ORPHA:244
HP:0000246	Sinusitis	2212	FCGR2A	OMIM:219700
HP:0000246	Sinusitis	83538	ODAD4	OMIM:617092
HP:0000246	Sinusitis	83538	ODAD4	ORPHA:244
HP:0000246	Sinusitis	92749	DRC1	OMIM:615294
HP:0000246	Sinusitis	92749	DRC1	ORPHA:244
HP:0000246	Sinusitis	1770	DNAH9	OMIM:618300
HP:0000246	Sinusitis	1770	DNAH9	ORPHA:244
HP:0000246	Sinusitis	83861	RSPH3	OMIM:616481
HP:0000246	Sinusitis	83861	RSPH3	ORPHA:244
HP:0000246	Sinusitis	6103	RPGR	OMIM:300455
HP:0000246	Sinusitis	6103	RPGR	ORPHA:244
HP:0000246	Sinusitis	79848	CSPP1	OMIM:615636
HP:0000246	Sinusitis	5238	PGM3	ORPHA:443811
HP:0000246	Sinusitis	64446	DNAI2	OMIM:612444
HP:0000246	Sinusitis	64446	DNAI2	ORPHA:244
HP:0000246	Sinusitis	6890	TAP1	OMIM:604571
HP:0000246	Sinusitis	6891	TAP2	OMIM:604571
HP:0000246	Sinusitis	6892	TAPBP	OMIM:604571
HP:0000246	Sinusitis	54440	SASH3	OMIM:301082
HP:0000246	Sinusitis	3514	IGKC	ORPHA:183675
HP:0000246	Sinusitis	3501	IGHG2	ORPHA:183675
HP:0000246	Sinusitis	3981	LIG4	OMIM:606593
HP:0000246	Sinusitis	25981	DNAH1	ORPHA:244
HP:0000246	Sinusitis	115948	ODAD3	ORPHA:244
HP:0000246	Sinusitis	115948	ODAD3	OMIM:616037
HP:0000246	Sinusitis	54768	HYDIN	ORPHA:244
HP:0000246	Sinusitis	27148	STK36	ORPHA:244
HP:0000246	Sinusitis	54970	TTC12	ORPHA:244
HP:0000246	Sinusitis	152110	NEK10	ORPHA:244
HP:0000246	Sinusitis	8481	OFD1	ORPHA:244
HP:0000246	Sinusitis	2302	FOXJ1	ORPHA:244
HP:0000246	Sinusitis	2302	FOXJ1	OMIM:618699
HP:0000246	Sinusitis	221421	RSPH9	ORPHA:244
HP:0000246	Sinusitis	221421	RSPH9	OMIM:612650
HP:0000246	Sinusitis	85478	CCDC65	ORPHA:244
HP:0000246	Sinusitis	85478	CCDC65	OMIM:615504
HP:0000246	Sinusitis	55036	CCDC40	ORPHA:244
HP:0000246	Sinusitis	55036	CCDC40	OMIM:613808
HP:0000246	Sinusitis	51364	ZMYND10	ORPHA:244
HP:0000246	Sinusitis	6674	SPAG1	ORPHA:244
HP:0000246	Sinusitis	83544	DNAL1	ORPHA:244
HP:0000246	Sinusitis	83544	DNAL1	OMIM:614017
HP:0000246	Sinusitis	89765	RSPH1	ORPHA:244
HP:0000246	Sinusitis	200373	CFAP221	ORPHA:244
HP:0000246	Sinusitis	374407	DNAJB13	ORPHA:244
HP:0000246	Sinusitis	55172	DNAAF2	ORPHA:244
HP:0000246	Sinusitis	55172	DNAAF2	OMIM:612518
HP:0000246	Sinusitis	161582	DNAAF4	ORPHA:244
HP:0000246	Sinusitis	2622	GAS8	ORPHA:244
HP:0000246	Sinusitis	23639	DNAAF11	ORPHA:244
HP:0000246	Sinusitis	345895	RSPH4A	ORPHA:244
HP:0000246	Sinusitis	54919	DNAAF5	ORPHA:244
HP:0000246	Sinusitis	388389	CCDC103	ORPHA:244
HP:0000246	Sinusitis	388389	CCDC103	OMIM:614679
HP:0000246	Sinusitis	93233	ODAD1	ORPHA:244
HP:0000246	Sinusitis	55130	ODAD2	ORPHA:244
HP:0000246	Sinusitis	1767	DNAH5	ORPHA:244
HP:0000246	Sinusitis	345643	MCIDAS	ORPHA:244
HP:0000246	Sinusitis	56683	CFAP298	ORPHA:244
HP:0000246	Sinusitis	79925	SPEF2	ORPHA:244
HP:0000246	Sinusitis	10309	CCNO	ORPHA:244
HP:0000246	Sinusitis	115399	LRRC56	ORPHA:244
HP:0000246	Sinusitis	139212	DNAAF6	ORPHA:244
HP:0000246	Sinusitis	123872	DNAAF1	ORPHA:244
HP:0000246	Sinusitis	339829	CCDC39	ORPHA:244
HP:0000246	Sinusitis	339829	CCDC39	OMIM:613807
HP:0000246	Sinusitis	8701	DNAH11	ORPHA:244
HP:0000246	Sinusitis	246176	GAS2L2	ORPHA:244
HP:0000246	Sinusitis	146845	CFAP52	OMIM:619607
HP:0000246	Sinusitis	25790	CFAP45	OMIM:619608
HP:0000246	Sinusitis	165918	RNF168	ORPHA:420741
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	23545	ATP6V0A2	ORPHA:2834
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	1080	CFTR	ORPHA:498359
HP:0007408	Tegumentary leishmaniasis susceptibility	3594	IL12RB1	ORPHA:319552
HP:0007489	Diffuse telangiectasia	5184	PEPD	OMIM:170100
HP:0010465	Precocious puberty in females	2890	GRIA1	OMIM:619931
HP:0010465	Precocious puberty in females	7840	ALMS1	ORPHA:64
HP:0010465	Precocious puberty in females	5468	PPARG	ORPHA:528
HP:0010465	Precocious puberty in females	10555	AGPAT2	ORPHA:528
HP:0010465	Precocious puberty in females	284119	CAVIN1	ORPHA:528
HP:0010465	Precocious puberty in females	26580	BSCL2	ORPHA:528
HP:0010465	Precocious puberty in females	2353	FOS	ORPHA:528
HP:0010465	Precocious puberty in females	857	CAV1	ORPHA:528
HP:0010465	Precocious puberty in females	1586	CYP17A1	ORPHA:90793
HP:0010464	Streak ovary	29893	PSMC3IP	ORPHA:243
HP:0010464	Streak ovary	171568	POLR3H	ORPHA:243
HP:0010464	Streak ovary	2516	NR5A1	ORPHA:243
HP:0010464	Streak ovary	2516	NR5A1	ORPHA:251510
HP:0010464	Streak ovary	125150	ZSWIM7	ORPHA:243
HP:0010464	Streak ovary	125150	ZSWIM7	OMIM:619834
HP:0010464	Streak ovary	9210	BMP15	ORPHA:243
HP:0010464	Streak ovary	9210	BMP15	OMIM:300510
HP:0010464	Streak ovary	57122	NUP107	ORPHA:243
HP:0010464	Streak ovary	23514	SPIDR	ORPHA:243
HP:0010464	Streak ovary	2492	FSHR	ORPHA:243
HP:0010464	Streak ovary	56945	MRPS22	ORPHA:243
HP:0010464	Streak ovary	646	BNC1	ORPHA:243
HP:0010464	Streak ovary	26284	ERAL1	OMIM:617565
HP:0010464	Streak ovary	344018	FIGLA	OMIM:612310
HP:0010464	Streak ovary	6736	SRY	ORPHA:1772
HP:0010464	Streak ovary	6736	SRY	ORPHA:251510
HP:0010464	Streak ovary	4659	PPP1R12A	OMIM:618820
HP:0010464	Streak ovary	8192	CLPP	OMIM:614129
HP:0010464	Streak ovary	6662	SOX9	ORPHA:251510
HP:0010464	Streak ovary	6845	VAMP7	ORPHA:251510
HP:0010464	Streak ovary	51741	WWOX	ORPHA:251510
HP:0010464	Streak ovary	4214	MAP3K1	ORPHA:251510
HP:0010464	Streak ovary	7490	WT1	ORPHA:251510
HP:0010464	Streak ovary	7490	WT1	OMIM:194072
HP:0010464	Streak ovary	7490	WT1	ORPHA:347
HP:0010464	Streak ovary	58524	DMRT3	ORPHA:251510
HP:0010464	Streak ovary	57647	DHX37	ORPHA:251510
HP:0010464	Streak ovary	23414	ZFPM2	ORPHA:251510
HP:0010464	Streak ovary	190	NR0B1	ORPHA:251510
HP:0010464	Streak ovary	2626	GATA4	ORPHA:251510
HP:0010464	Streak ovary	10734	STAG3	OMIM:615723
HP:0010464	Streak ovary	23438	HARS2	OMIM:614926
HP:0010464	Streak ovary	80067	DCAF17	ORPHA:3464
HP:0010464	Streak ovary	135935	NOBOX	OMIM:611548
HP:0010464	Streak ovary	5080	PAX6	OMIM:194072
HP:0010464	Streak ovary	26040	SETBP1	ORPHA:798
HP:0010464	Streak ovary	668	FOXL2	ORPHA:572333
HP:0010464	Streak ovary	50846	DHH	OMIM:233420
HP:0010464	Streak ovary	50846	DHH	ORPHA:168563
HP:0010469	Absent testis	57647	DHX37	ORPHA:983
HP:0010469	Absent testis	672	BRCA1	ORPHA:84
HP:0010469	Absent testis	10459	MAD2L2	ORPHA:84
HP:0010469	Absent testis	7516	XRCC2	ORPHA:84
HP:0010469	Absent testis	29089	UBE2T	ORPHA:84
HP:0010469	Absent testis	675	BRCA2	ORPHA:84
HP:0010469	Absent testis	55120	FANCL	ORPHA:84
HP:0010469	Absent testis	2177	FANCD2	ORPHA:84
HP:0010469	Absent testis	2175	FANCA	ORPHA:84
HP:0010469	Absent testis	2187	FANCB	ORPHA:84
HP:0010469	Absent testis	2176	FANCC	ORPHA:84
HP:0010469	Absent testis	2178	FANCE	ORPHA:84
HP:0010469	Absent testis	2188	FANCF	ORPHA:84
HP:0010469	Absent testis	2189	FANCG	ORPHA:84
HP:0010469	Absent testis	5888	RAD51	ORPHA:84
HP:0010469	Absent testis	5889	RAD51C	ORPHA:84
HP:0010469	Absent testis	55159	RFWD3	ORPHA:84
HP:0010469	Absent testis	83990	BRIP1	ORPHA:84
HP:0010469	Absent testis	57697	FANCM	ORPHA:84
HP:0010469	Absent testis	79728	PALB2	ORPHA:84
HP:0010469	Absent testis	84464	SLX4	ORPHA:84
HP:0010469	Absent testis	2072	ERCC4	ORPHA:84
HP:0010469	Absent testis	55215	FANCI	ORPHA:84
HP:0010469	Absent testis	392255	GDF6	OMIM:613094
HP:0010469	Absent testis	26123	TCTN3	ORPHA:2753
HP:0010468	Aplasia/Hypoplasia of the testes	2737	GLI3	ORPHA:672
HP:0010468	Aplasia/Hypoplasia of the testes	2737	GLI3	OMIM:146510
HP:0010468	Aplasia/Hypoplasia of the testes	2260	FGFR1	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	2260	FGFR1	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	81848	SPRY4	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	81848	SPRY4	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	81848	SPRY4	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	128674	PROKR2	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	128674	PROKR2	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	2253	FGF8	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	2253	FGF8	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	60675	PROK2	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	60675	PROK2	OMIM:610628
HP:0010468	Aplasia/Hypoplasia of the testes	60675	PROK2	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	55636	CHD7	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	55636	CHD7	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	6870	TACR3	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	6870	TACR3	OMIM:614840
HP:0010468	Aplasia/Hypoplasia of the testes	6870	TACR3	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	1848	DUSP6	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	1848	DUSP6	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	1848	DUSP6	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	26012	NSMF	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	26012	NSMF	OMIM:614838
HP:0010468	Aplasia/Hypoplasia of the testes	55717	WDR11	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	55717	WDR11	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	55717	WDR11	OMIM:614858
HP:0010468	Aplasia/Hypoplasia of the testes	55717	WDR11	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	9394	HS6ST1	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	9394	HS6ST1	OMIM:614880
HP:0010468	Aplasia/Hypoplasia of the testes	9394	HS6ST1	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	2796	GNRH1	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	2796	GNRH1	OMIM:614841
HP:0010468	Aplasia/Hypoplasia of the testes	2796	GNRH1	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	2798	GNRHR	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	2798	GNRHR	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	84634	KISS1R	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	84634	KISS1R	OMIM:614837
HP:0010468	Aplasia/Hypoplasia of the testes	6866	TAC3	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	8822	FGF17	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	8822	FGF17	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	8822	FGF17	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	3814	KISS1	ORPHA:432
HP:0010468	Aplasia/Hypoplasia of the testes	6662	SOX9	ORPHA:393
HP:0010468	Aplasia/Hypoplasia of the testes	6662	SOX9	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	6658	SOX3	ORPHA:393
HP:0010468	Aplasia/Hypoplasia of the testes	6658	SOX3	ORPHA:90695
HP:0010468	Aplasia/Hypoplasia of the testes	2516	NR5A1	ORPHA:393
HP:0010468	Aplasia/Hypoplasia of the testes	2516	NR5A1	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	2516	NR5A1	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	6736	SRY	ORPHA:393
HP:0010468	Aplasia/Hypoplasia of the testes	6736	SRY	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	190	NR0B1	ORPHA:393
HP:0010468	Aplasia/Hypoplasia of the testes	190	NR0B1	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	8450	CUL4B	OMIM:300354
HP:0010468	Aplasia/Hypoplasia of the testes	8450	CUL4B	ORPHA:85293
HP:0010468	Aplasia/Hypoplasia of the testes	3763	KCNJ6	ORPHA:435628
HP:0010468	Aplasia/Hypoplasia of the testes	6134	RPL10	OMIM:300998
HP:0010468	Aplasia/Hypoplasia of the testes	6134	RPL10	ORPHA:459070
HP:0010468	Aplasia/Hypoplasia of the testes	8473	OGT	OMIM:300997
HP:0010468	Aplasia/Hypoplasia of the testes	23314	SATB2	ORPHA:251028
HP:0010468	Aplasia/Hypoplasia of the testes	23314	SATB2	ORPHA:251019
HP:0010468	Aplasia/Hypoplasia of the testes	84515	MCM8	OMIM:612885
HP:0010468	Aplasia/Hypoplasia of the testes	1736	DKC1	OMIM:305000
HP:0010468	Aplasia/Hypoplasia of the testes	1131	CHRM3	ORPHA:2970
HP:0010468	Aplasia/Hypoplasia of the testes	2200	FBN1	ORPHA:284979
HP:0010468	Aplasia/Hypoplasia of the testes	7258	TSPY1	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	57055	DAZ2	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	57135	DAZ4	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	8287	USP9Y	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	5940	RBMY1A1	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	57054	DAZ3	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	8653	DDX3Y	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	1617	DAZ1	ORPHA:1646
HP:0010468	Aplasia/Hypoplasia of the testes	10084	PQBP1	ORPHA:93950
HP:0010468	Aplasia/Hypoplasia of the testes	10084	PQBP1	OMIM:309500
HP:0010468	Aplasia/Hypoplasia of the testes	9150	CTDP1	OMIM:604168
HP:0010468	Aplasia/Hypoplasia of the testes	55869	HDAC8	OMIM:300882
HP:0010468	Aplasia/Hypoplasia of the testes	2488	FSHB	ORPHA:52901
HP:0010468	Aplasia/Hypoplasia of the testes	2488	FSHB	OMIM:229070
HP:0010468	Aplasia/Hypoplasia of the testes	1584	CYP11B1	OMIM:202010
HP:0010468	Aplasia/Hypoplasia of the testes	201134	CEP112	OMIM:619044
HP:0010468	Aplasia/Hypoplasia of the testes	8882	ZPR1	OMIM:619321
HP:0010468	Aplasia/Hypoplasia of the testes	1528	CYB5A	ORPHA:90796
HP:0010468	Aplasia/Hypoplasia of the testes	1586	CYP17A1	ORPHA:90796
HP:0010468	Aplasia/Hypoplasia of the testes	131118	DNAJC19	OMIM:610198
HP:0010468	Aplasia/Hypoplasia of the testes	1028	CDKN1C	ORPHA:436144
HP:0010468	Aplasia/Hypoplasia of the testes	6492	SIM1	ORPHA:398079
HP:0010468	Aplasia/Hypoplasia of the testes	140801	RPL10L	OMIM:619689
HP:0010468	Aplasia/Hypoplasia of the testes	3952	LEP	ORPHA:66628
HP:0010468	Aplasia/Hypoplasia of the testes	3952	LEP	OMIM:614962
HP:0010468	Aplasia/Hypoplasia of the testes	3284	HSD3B2	ORPHA:90791
HP:0010468	Aplasia/Hypoplasia of the testes	7298	TYMS	OMIM:620040
HP:0010468	Aplasia/Hypoplasia of the testes	6638	SNRPN	ORPHA:177904
HP:0010468	Aplasia/Hypoplasia of the testes	6638	SNRPN	ORPHA:177901
HP:0010468	Aplasia/Hypoplasia of the testes	6638	SNRPN	ORPHA:98754
HP:0010468	Aplasia/Hypoplasia of the testes	4692	NDN	ORPHA:177904
HP:0010468	Aplasia/Hypoplasia of the testes	4692	NDN	ORPHA:177901
HP:0010468	Aplasia/Hypoplasia of the testes	4692	NDN	ORPHA:98754
HP:0010468	Aplasia/Hypoplasia of the testes	54551	MAGEL2	ORPHA:177904
HP:0010468	Aplasia/Hypoplasia of the testes	54551	MAGEL2	ORPHA:177901
HP:0010468	Aplasia/Hypoplasia of the testes	54551	MAGEL2	ORPHA:398069
HP:0010468	Aplasia/Hypoplasia of the testes	54551	MAGEL2	ORPHA:98754
HP:0010468	Aplasia/Hypoplasia of the testes	4948	OCA2	ORPHA:177904
HP:0010468	Aplasia/Hypoplasia of the testes	4948	OCA2	ORPHA:177901
HP:0010468	Aplasia/Hypoplasia of the testes	4948	OCA2	ORPHA:98754
HP:0010468	Aplasia/Hypoplasia of the testes	170302	ARX	OMIM:300215
HP:0010468	Aplasia/Hypoplasia of the testes	51132	RLIM	OMIM:300978
HP:0010468	Aplasia/Hypoplasia of the testes	57697	FANCM	OMIM:618086
HP:0010468	Aplasia/Hypoplasia of the testes	57697	FANCM	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	8260	NAA10	OMIM:300855
HP:0010468	Aplasia/Hypoplasia of the testes	3973	LHCGR	OMIM:176410
HP:0010468	Aplasia/Hypoplasia of the testes	84100	ARL6	OMIM:209900
HP:0010468	Aplasia/Hypoplasia of the testes	79140	CCDC28B	OMIM:209900
HP:0010468	Aplasia/Hypoplasia of the testes	582	BBS1	OMIM:209900
HP:0010468	Aplasia/Hypoplasia of the testes	79184	BRCC3	ORPHA:280679
HP:0010468	Aplasia/Hypoplasia of the testes	284654	RSPO1	OMIM:610644
HP:0010468	Aplasia/Hypoplasia of the testes	9820	CUL7	OMIM:273750
HP:0010468	Aplasia/Hypoplasia of the testes	23116	TOGARAM1	OMIM:619185
HP:0010468	Aplasia/Hypoplasia of the testes	1583	CYP11A1	ORPHA:289548
HP:0010468	Aplasia/Hypoplasia of the testes	1583	CYP11A1	ORPHA:168558
HP:0010468	Aplasia/Hypoplasia of the testes	55630	SLC39A4	OMIM:201100
HP:0010468	Aplasia/Hypoplasia of the testes	23312	DMXL2	OMIM:616113
HP:0010468	Aplasia/Hypoplasia of the testes	23312	DMXL2	ORPHA:453533
HP:0010468	Aplasia/Hypoplasia of the testes	56154	TEX15	OMIM:617960
HP:0010468	Aplasia/Hypoplasia of the testes	56154	TEX15	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	6885	MAP3K7	OMIM:157800
HP:0010468	Aplasia/Hypoplasia of the testes	9723	SEMA3E	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	558	AXL	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	10011	SRA1	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	285025	CCDC141	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	285025	CCDC141	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	389549	FEZF1	OMIM:146110
HP:0010468	Aplasia/Hypoplasia of the testes	389549	FEZF1	OMIM:616030
HP:0010468	Aplasia/Hypoplasia of the testes	389549	FEZF1	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	128637	TBC1D20	OMIM:615663
HP:0010468	Aplasia/Hypoplasia of the testes	3953	LEPR	ORPHA:179494
HP:0010468	Aplasia/Hypoplasia of the testes	6845	VAMP7	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	51741	WWOX	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	4214	MAP3K1	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	7490	WT1	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	58524	DMRT3	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	57647	DHX37	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	57647	DHX37	ORPHA:983
HP:0010468	Aplasia/Hypoplasia of the testes	23414	ZFPM2	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	2626	GATA4	ORPHA:251510
HP:0010468	Aplasia/Hypoplasia of the testes	57187	THOC2	ORPHA:457240
HP:0010468	Aplasia/Hypoplasia of the testes	340719	NANOS1	ORPHA:399808
HP:0010468	Aplasia/Hypoplasia of the testes	340719	NANOS1	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	7840	ALMS1	ORPHA:64
HP:0010468	Aplasia/Hypoplasia of the testes	54809	SAMD9	OMIM:617053
HP:0010468	Aplasia/Hypoplasia of the testes	7737	RNF113A	OMIM:300953
HP:0010468	Aplasia/Hypoplasia of the testes	22931	RAB18	OMIM:614222
HP:0010468	Aplasia/Hypoplasia of the testes	80067	DCAF17	ORPHA:3464
HP:0010468	Aplasia/Hypoplasia of the testes	80067	DCAF17	OMIM:241080
HP:0010468	Aplasia/Hypoplasia of the testes	5626	PROP1	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	5626	PROP1	ORPHA:90695
HP:0010468	Aplasia/Hypoplasia of the testes	2736	GLI2	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	89884	LHX4	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	3170	FOXA2	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	5449	POU1F1	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	8820	HESX1	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	8820	HESX1	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	5015	OTX2	ORPHA:95494
HP:0010468	Aplasia/Hypoplasia of the testes	11041	B4GAT1	OMIM:615287
HP:0010468	Aplasia/Hypoplasia of the testes	26227	PHGDH	OMIM:601815
HP:0010468	Aplasia/Hypoplasia of the testes	154197	PNLDC1	OMIM:619528
HP:0010468	Aplasia/Hypoplasia of the testes	154197	PNLDC1	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	57704	GBA2	ORPHA:320391
HP:0010468	Aplasia/Hypoplasia of the testes	5422	POLA1	ORPHA:163976
HP:0010468	Aplasia/Hypoplasia of the testes	6875	TAF4B	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	56155	TEX14	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	7516	XRCC2	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	7516	XRCC2	OMIM:619145
HP:0010468	Aplasia/Hypoplasia of the testes	254528	MEIOB	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	91057	CCDC34	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	402381	SOHLH1	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	317719	KLHL10	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	56159	TEX11	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	1080	CFTR	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	84225	ZMYND15	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	122402	TDRD9	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	93426	SYCE1	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	50511	SYCP3	ORPHA:399805
HP:0010468	Aplasia/Hypoplasia of the testes	5373	PMM2	ORPHA:79318
HP:0010468	Aplasia/Hypoplasia of the testes	8242	KDM5C	OMIM:300534
HP:0010468	Aplasia/Hypoplasia of the testes	8242	KDM5C	ORPHA:85279
HP:0010468	Aplasia/Hypoplasia of the testes	2332	FMR1	ORPHA:261483
HP:0010468	Aplasia/Hypoplasia of the testes	51360	MBTPS2	ORPHA:85284
HP:0010468	Aplasia/Hypoplasia of the testes	546	ATRX	OMIM:309580
HP:0010468	Aplasia/Hypoplasia of the testes	23133	PHF8	ORPHA:85287
HP:0010468	Aplasia/Hypoplasia of the testes	3339	HSPG2	OMIM:255800
HP:0010468	Aplasia/Hypoplasia of the testes	3339	HSPG2	ORPHA:800
HP:0010468	Aplasia/Hypoplasia of the testes	84295	PHF6	ORPHA:127
HP:0010468	Aplasia/Hypoplasia of the testes	26123	TCTN3	ORPHA:2753
HP:0010468	Aplasia/Hypoplasia of the testes	3730	ANOS1	OMIM:308700
HP:0010468	Aplasia/Hypoplasia of the testes	3730	ANOS1	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	55315	SLC29A3	ORPHA:168569
HP:0010468	Aplasia/Hypoplasia of the testes	10371	SEMA3A	OMIM:614897
HP:0010468	Aplasia/Hypoplasia of the testes	10371	SEMA3A	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	63901	FAM111A	ORPHA:93325
HP:0010468	Aplasia/Hypoplasia of the testes	23767	FLRT3	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	79625	NDNF	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	1630	DCC	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	54756	IL17RD	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	6663	SOX10	ORPHA:478
HP:0010468	Aplasia/Hypoplasia of the testes	2068	ERCC2	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	7507	XPA	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	2071	ERCC3	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	7508	XPC	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	1643	DDB2	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	2072	ERCC4	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	2073	ERCC5	ORPHA:910
HP:0010468	Aplasia/Hypoplasia of the testes	7486	WRN	ORPHA:902
HP:0010468	Aplasia/Hypoplasia of the testes	672	BRCA1	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	10459	MAD2L2	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	29089	UBE2T	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	675	BRCA2	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	55120	FANCL	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2177	FANCD2	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2175	FANCA	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2187	FANCB	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2176	FANCC	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2178	FANCE	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2188	FANCF	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	2189	FANCG	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	5888	RAD51	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	5889	RAD51C	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	55159	RFWD3	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	83990	BRIP1	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	79728	PALB2	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	84464	SLX4	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	55215	FANCI	ORPHA:84
HP:0010468	Aplasia/Hypoplasia of the testes	392255	GDF6	OMIM:613094
HP:0010463	Aplasia of the ovary	29893	PSMC3IP	OMIM:614324
HP:0010463	Aplasia of the ovary	367	AR	ORPHA:90797
HP:0010463	Aplasia of the ovary	5373	PMM2	ORPHA:79318
HP:0010463	Aplasia of the ovary	8626	TP63	ORPHA:69085
HP:0010463	Aplasia of the ovary	5781	PTPN11	OMIM:151100
HP:0010462	Aplasia/Hypoplasia of the ovary	79796	ALG9	ORPHA:79328
HP:0010462	Aplasia/Hypoplasia of the ovary	2260	FGFR1	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	81848	SPRY4	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	128674	PROKR2	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	2253	FGF8	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	60675	PROK2	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	55636	CHD7	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	6870	TACR3	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	1848	DUSP6	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	26012	NSMF	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	55717	WDR11	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	9394	HS6ST1	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	2796	GNRH1	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	2796	GNRH1	OMIM:614841
HP:0010462	Aplasia/Hypoplasia of the ovary	2798	GNRHR	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	84634	KISS1R	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	6866	TAC3	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	8822	FGF17	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	3814	KISS1	ORPHA:432
HP:0010462	Aplasia/Hypoplasia of the ovary	92482	BBIP1	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	80184	CEP290	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	11020	IFT27	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	582	BBS1	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	49855	SCAPER	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	4867	NPHP1	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	51057	WDPCP	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	27241	BBS9	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	84984	CEP19	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	22954	TRIM32	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	54903	MKS1	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	79738	BBS10	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	123016	TTC8	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	26160	IFT172	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	583	BBS2	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	585	BBS4	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	8195	MKKS	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	54585	LZTFL1	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	55212	BBS7	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	166379	BBS12	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	10806	SDCCAG8	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	157657	CFAP418	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	84100	ARL6	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	129880	BBS5	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	80173	IFT74	ORPHA:110
HP:0010462	Aplasia/Hypoplasia of the ovary	317761	C14orf39	OMIM:619203
HP:0010462	Aplasia/Hypoplasia of the ovary	79625	NDNF	OMIM:618841
HP:0010462	Aplasia/Hypoplasia of the ovary	8882	ZPR1	OMIM:619321
HP:0010462	Aplasia/Hypoplasia of the ovary	23395	LARS2	OMIM:615300
HP:0010462	Aplasia/Hypoplasia of the ovary	164045	HFM1	OMIM:615724
HP:0010462	Aplasia/Hypoplasia of the ovary	84515	MCM8	OMIM:612885
HP:0010462	Aplasia/Hypoplasia of the ovary	3953	LEPR	ORPHA:179494
HP:0010462	Aplasia/Hypoplasia of the ovary	3952	LEP	ORPHA:66628
HP:0010462	Aplasia/Hypoplasia of the ovary	29893	PSMC3IP	OMIM:614324
HP:0010462	Aplasia/Hypoplasia of the ovary	367	AR	ORPHA:90797
HP:0010462	Aplasia/Hypoplasia of the ovary	5373	PMM2	ORPHA:79318
HP:0010462	Aplasia/Hypoplasia of the ovary	8626	TP63	ORPHA:69085
HP:0010462	Aplasia/Hypoplasia of the ovary	5781	PTPN11	OMIM:151100
HP:0010462	Aplasia/Hypoplasia of the ovary	171568	POLR3H	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	2516	NR5A1	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	2516	NR5A1	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	125150	ZSWIM7	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	125150	ZSWIM7	OMIM:619834
HP:0010462	Aplasia/Hypoplasia of the ovary	9210	BMP15	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	9210	BMP15	OMIM:300510
HP:0010462	Aplasia/Hypoplasia of the ovary	57122	NUP107	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	23514	SPIDR	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	2492	FSHR	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	56945	MRPS22	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	646	BNC1	ORPHA:243
HP:0010462	Aplasia/Hypoplasia of the ovary	26284	ERAL1	OMIM:617565
HP:0010462	Aplasia/Hypoplasia of the ovary	344018	FIGLA	OMIM:612310
HP:0010462	Aplasia/Hypoplasia of the ovary	6736	SRY	ORPHA:1772
HP:0010462	Aplasia/Hypoplasia of the ovary	6736	SRY	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	4659	PPP1R12A	OMIM:618820
HP:0010462	Aplasia/Hypoplasia of the ovary	8192	CLPP	OMIM:614129
HP:0010462	Aplasia/Hypoplasia of the ovary	6662	SOX9	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	6845	VAMP7	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	51741	WWOX	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	4214	MAP3K1	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	7490	WT1	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	7490	WT1	OMIM:194072
HP:0010462	Aplasia/Hypoplasia of the ovary	7490	WT1	ORPHA:347
HP:0010462	Aplasia/Hypoplasia of the ovary	58524	DMRT3	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	57647	DHX37	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	23414	ZFPM2	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	190	NR0B1	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	2626	GATA4	ORPHA:251510
HP:0010462	Aplasia/Hypoplasia of the ovary	10734	STAG3	OMIM:615723
HP:0010462	Aplasia/Hypoplasia of the ovary	23438	HARS2	OMIM:614926
HP:0010462	Aplasia/Hypoplasia of the ovary	80067	DCAF17	ORPHA:3464
HP:0010462	Aplasia/Hypoplasia of the ovary	135935	NOBOX	OMIM:611548
HP:0010462	Aplasia/Hypoplasia of the ovary	5080	PAX6	OMIM:194072
HP:0010462	Aplasia/Hypoplasia of the ovary	26040	SETBP1	ORPHA:798
HP:0010462	Aplasia/Hypoplasia of the ovary	668	FOXL2	ORPHA:572333
HP:0010462	Aplasia/Hypoplasia of the ovary	50846	DHH	OMIM:233420
HP:0010462	Aplasia/Hypoplasia of the ovary	50846	DHH	ORPHA:168563
HP:0010461	Abnormality of the male genitalia	3081	HGD	ORPHA:56
HP:0010461	Abnormality of the male genitalia	695	BTK	OMIM:300755
HP:0010461	Abnormality of the male genitalia	695	BTK	OMIM:307200
HP:0010461	Abnormality of the male genitalia	1493	CTLA4	ORPHA:900
HP:0010461	Abnormality of the male genitalia	26191	PTPN22	ORPHA:900
HP:0010461	Abnormality of the male genitalia	3115	HLA-DPB1	ORPHA:900
HP:0010461	Abnormality of the male genitalia	5657	PRTN3	ORPHA:900
HP:0010461	Abnormality of the male genitalia	3113	HLA-DPA1	ORPHA:900
HP:0010461	Abnormality of the male genitalia	23394	ADNP	ORPHA:404448
HP:0010461	Abnormality of the male genitalia	23394	ADNP	OMIM:615873
HP:0010461	Abnormality of the male genitalia	8216	LZTR1	OMIM:616564
HP:0010461	Abnormality of the male genitalia	8216	LZTR1	OMIM:605275
HP:0010461	Abnormality of the male genitalia	8216	LZTR1	ORPHA:648
HP:0010461	Abnormality of the male genitalia	23135	KDM6B	OMIM:618505
HP:0010461	Abnormality of the male genitalia	1024	CDK8	OMIM:618748
HP:0010461	Abnormality of the male genitalia	1788	DNMT3A	ORPHA:404443
HP:0010461	Abnormality of the male genitalia	80816	ASXL3	OMIM:615485
HP:0010461	Abnormality of the male genitalia	55690	PACS1	OMIM:615009
HP:0010461	Abnormality of the male genitalia	55690	PACS1	ORPHA:329224
HP:0010461	Abnormality of the male genitalia	55904	KMT2E	OMIM:618512
HP:0010461	Abnormality of the male genitalia	2192	FBLN1	ORPHA:404451
HP:0010461	Abnormality of the male genitalia	284403	WDR62	OMIM:604317
HP:0010461	Abnormality of the male genitalia	3190	HNRNPK	OMIM:616580
HP:0010461	Abnormality of the male genitalia	3190	HNRNPK	ORPHA:453504
HP:0010461	Abnormality of the male genitalia	3190	HNRNPK	ORPHA:352665
HP:0010461	Abnormality of the male genitalia	54453	RIN2	OMIM:613075
HP:0010461	Abnormality of the male genitalia	54453	RIN2	ORPHA:217335
HP:0010461	Abnormality of the male genitalia	113189	CHST14	ORPHA:2953
HP:0010461	Abnormality of the male genitalia	113189	CHST14	OMIM:601776
HP:0010461	Abnormality of the male genitalia	29940	DSE	ORPHA:2953
HP:0010461	Abnormality of the male genitalia	55681	SCYL2	OMIM:618766
HP:0010461	Abnormality of the male genitalia	10484	SEC23A	OMIM:607812
HP:0010461	Abnormality of the male genitalia	23327	NEDD4L	OMIM:617201
HP:0010461	Abnormality of the male genitalia	8036	SHOC2	ORPHA:2701
HP:0010461	Abnormality of the male genitalia	8036	SHOC2	OMIM:607721
HP:0010461	Abnormality of the male genitalia	5500	PPP1CB	ORPHA:2701
HP:0010461	Abnormality of the male genitalia	5500	PPP1CB	OMIM:617506
HP:0010461	Abnormality of the male genitalia	9860	LRIG2	ORPHA:2704
HP:0010461	Abnormality of the male genitalia	60495	HPSE2	ORPHA:2704
HP:0010461	Abnormality of the male genitalia	60495	HPSE2	OMIM:236730
HP:0010461	Abnormality of the male genitalia	51633	OTUD6B	OMIM:617452
HP:0010461	Abnormality of the male genitalia	51633	OTUD6B	ORPHA:505237
HP:0010461	Abnormality of the male genitalia	641	BLM	OMIM:210900
HP:0010461	Abnormality of the male genitalia	57688	ZSWIM6	OMIM:603671
HP:0010461	Abnormality of the male genitalia	57688	ZSWIM6	ORPHA:1827
HP:0010461	Abnormality of the male genitalia	8643	PTCH2	ORPHA:377
HP:0010461	Abnormality of the male genitalia	23483	TGDS	OMIM:616145
HP:0010461	Abnormality of the male genitalia	5881	RAC3	OMIM:618577
HP:0010461	Abnormality of the male genitalia	5081	PAX7	OMIM:618578
HP:0010461	Abnormality of the male genitalia	2261	FGFR3	ORPHA:794
HP:0010461	Abnormality of the male genitalia	2261	FGFR3	ORPHA:2363
HP:0010461	Abnormality of the male genitalia	9361	LONP1	OMIM:600373
HP:0010461	Abnormality of the male genitalia	1798	DPAGT1	OMIM:608093
HP:0010461	Abnormality of the male genitalia	2972	BRF1	ORPHA:444072
HP:0010461	Abnormality of the male genitalia	2972	BRF1	OMIM:616202
HP:0010461	Abnormality of the male genitalia	4952	OCRL	ORPHA:534
HP:0010461	Abnormality of the male genitalia	4952	OCRL	OMIM:309000
HP:0010461	Abnormality of the male genitalia	84340	GFM2	ORPHA:565624
HP:0010461	Abnormality of the male genitalia	4927	NUP88	ORPHA:994
HP:0010461	Abnormality of the male genitalia	4927	NUP88	OMIM:618393
HP:0010461	Abnormality of the male genitalia	7846	TUBA1A	ORPHA:994
HP:0010461	Abnormality of the male genitalia	4654	MYOD1	ORPHA:994
HP:0010461	Abnormality of the male genitalia	4593	MUSK	ORPHA:994
HP:0010461	Abnormality of the male genitalia	4593	MUSK	OMIM:208150
HP:0010461	Abnormality of the male genitalia	5913	RAPSN	ORPHA:994
HP:0010461	Abnormality of the male genitalia	5913	RAPSN	OMIM:618388
HP:0010461	Abnormality of the male genitalia	6572	SLC18A3	ORPHA:994
HP:0010461	Abnormality of the male genitalia	285489	DOK7	ORPHA:994
HP:0010461	Abnormality of the male genitalia	134218	DNAJC21	OMIM:617052
HP:0010461	Abnormality of the male genitalia	57061	HYMAI	ORPHA:96191
HP:0010461	Abnormality of the male genitalia	5325	PLAGL1	ORPHA:96191
HP:0010461	Abnormality of the male genitalia	94005	PIGS	OMIM:618143
HP:0010461	Abnormality of the male genitalia	2317	FLNB	ORPHA:503
HP:0010461	Abnormality of the male genitalia	2317	FLNB	ORPHA:1263
HP:0010461	Abnormality of the male genitalia	2317	FLNB	OMIM:108720
HP:0010461	Abnormality of the male genitalia	2317	FLNB	OMIM:150250
HP:0010461	Abnormality of the male genitalia	10283	CWC27	ORPHA:166035
HP:0010461	Abnormality of the male genitalia	388015	RTL1	ORPHA:96184
HP:0010461	Abnormality of the male genitalia	388015	RTL1	ORPHA:96334
HP:0010461	Abnormality of the male genitalia	8788	DLK1	ORPHA:96184
HP:0010461	Abnormality of the male genitalia	8788	DLK1	ORPHA:96334
HP:0010461	Abnormality of the male genitalia	55384	MEG3	ORPHA:96184
HP:0010461	Abnormality of the male genitalia	55384	MEG3	ORPHA:96334
HP:0010461	Abnormality of the male genitalia	10682	EBP	OMIM:300960
HP:0010461	Abnormality of the male genitalia	10682	EBP	ORPHA:401973
HP:0010461	Abnormality of the male genitalia	23112	TNRC6B	OMIM:619243
HP:0010461	Abnormality of the male genitalia	91875	TTC5	OMIM:619244
HP:0010461	Abnormality of the male genitalia	7169	TPM2	OMIM:108120
HP:0010461	Abnormality of the male genitalia	5557	PRIM1	OMIM:620005
HP:0010461	Abnormality of the male genitalia	55294	FBXW7	OMIM:620012
HP:0010461	Abnormality of the male genitalia	6095	RORA	OMIM:618060
HP:0010461	Abnormality of the male genitalia	23241	PACS2	OMIM:618067
HP:0010461	Abnormality of the male genitalia	81839	VANGL1	ORPHA:3027
HP:0010461	Abnormality of the male genitalia	80199	FUZ	ORPHA:3027
HP:0010461	Abnormality of the male genitalia	9401	RECQL4	OMIM:268400
HP:0010461	Abnormality of the male genitalia	9401	RECQL4	ORPHA:221016
HP:0010461	Abnormality of the male genitalia	10978	CLP1	OMIM:615803
HP:0010461	Abnormality of the male genitalia	150468	CKAP2L	ORPHA:3255
HP:0010461	Abnormality of the male genitalia	150468	CKAP2L	OMIM:272440
HP:0010461	Abnormality of the male genitalia	10225	CD96	OMIM:211750
HP:0010461	Abnormality of the male genitalia	10225	CD96	ORPHA:1308
HP:0010461	Abnormality of the male genitalia	92579	G6PC3	OMIM:612541
HP:0010461	Abnormality of the male genitalia	23545	ATP6V0A2	OMIM:278250
HP:0010461	Abnormality of the male genitalia	23545	ATP6V0A2	ORPHA:2834
HP:0010461	Abnormality of the male genitalia	84300	UQCC2	OMIM:615824
HP:0010461	Abnormality of the male genitalia	79053	ALG8	OMIM:608104
HP:0010461	Abnormality of the male genitalia	54496	PRMT7	ORPHA:464288
HP:0010461	Abnormality of the male genitalia	165	AEBP1	ORPHA:536532
HP:0010461	Abnormality of the male genitalia	165	AEBP1	OMIM:618000
HP:0010461	Abnormality of the male genitalia	9653	HS2ST1	OMIM:619194
HP:0010461	Abnormality of the male genitalia	64327	LMBR1	ORPHA:2378
HP:0010461	Abnormality of the male genitalia	23345	SYNE1	ORPHA:319332
HP:0010461	Abnormality of the male genitalia	23345	SYNE1	OMIM:618484
HP:0010461	Abnormality of the male genitalia	4094	MAF	ORPHA:1272
HP:0010461	Abnormality of the male genitalia	10436	EMG1	ORPHA:1270
HP:0010461	Abnormality of the male genitalia	81887	LAS1L	ORPHA:3459
HP:0010461	Abnormality of the male genitalia	81887	LAS1L	OMIM:309585
HP:0010461	Abnormality of the male genitalia	2255	FGF10	ORPHA:2363
HP:0010461	Abnormality of the male genitalia	10984	KCNQ1OT1	ORPHA:2128
HP:0010461	Abnormality of the male genitalia	10984	KCNQ1OT1	OMIM:130650
HP:0010461	Abnormality of the male genitalia	283120	H19	ORPHA:2128
HP:0010461	Abnormality of the male genitalia	147372	CCBE1	OMIM:235510
HP:0010461	Abnormality of the male genitalia	6567	SLC16A2	ORPHA:59
HP:0010461	Abnormality of the male genitalia	55023	PHIP	ORPHA:589905
HP:0010461	Abnormality of the male genitalia	55023	PHIP	OMIM:617991
HP:0010461	Abnormality of the male genitalia	4854	NOTCH3	OMIM:130720
HP:0010461	Abnormality of the male genitalia	4854	NOTCH3	ORPHA:2789
HP:0010461	Abnormality of the male genitalia	4893	NRAS	OMIM:613224
HP:0010461	Abnormality of the male genitalia	4893	NRAS	ORPHA:648
HP:0010461	Abnormality of the male genitalia	2891	GRIA2	OMIM:618917
HP:0010461	Abnormality of the male genitalia	10560	SLC19A2	OMIM:249270
HP:0010461	Abnormality of the male genitalia	259232	NALCN	OMIM:615419
HP:0010461	Abnormality of the male genitalia	259232	NALCN	ORPHA:2053
HP:0010461	Abnormality of the male genitalia	79576	NKAP	OMIM:301039
HP:0010461	Abnormality of the male genitalia	64840	PORCN	OMIM:305600
HP:0010461	Abnormality of the male genitalia	157680	VPS13B	ORPHA:193
HP:0010461	Abnormality of the male genitalia	55617	TASP1	OMIM:618950
HP:0010461	Abnormality of the male genitalia	28957	MRPS28	OMIM:618958
HP:0010461	Abnormality of the male genitalia	153241	CEP120	OMIM:616300
HP:0010461	Abnormality of the male genitalia	1748	DLX4	OMIM:616788
HP:0010461	Abnormality of the male genitalia	23389	MED13L	OMIM:616789
HP:0010461	Abnormality of the male genitalia	23389	MED13L	ORPHA:369891
HP:0010461	Abnormality of the male genitalia	6655	SOS2	OMIM:616559
HP:0010461	Abnormality of the male genitalia	6655	SOS2	ORPHA:648
HP:0010461	Abnormality of the male genitalia	246329	STAC3	OMIM:255995
HP:0010461	Abnormality of the male genitalia	246329	STAC3	ORPHA:168572
HP:0010461	Abnormality of the male genitalia	64682	ANAPC1	ORPHA:221008
HP:0010461	Abnormality of the male genitalia	7528	YY1	ORPHA:506358
HP:0010461	Abnormality of the male genitalia	7528	YY1	OMIM:617557
HP:0010461	Abnormality of the male genitalia	23141	ANKLE2	OMIM:616681
HP:0010461	Abnormality of the male genitalia	6016	RIT1	OMIM:615355
HP:0010461	Abnormality of the male genitalia	6016	RIT1	ORPHA:648
HP:0010461	Abnormality of the male genitalia	3008	H1-4	OMIM:617537
HP:0010461	Abnormality of the male genitalia	64220	STRA6	OMIM:601186
HP:0010461	Abnormality of the male genitalia	64220	STRA6	ORPHA:2470
HP:0010461	Abnormality of the male genitalia	2067	ERCC1	ORPHA:90322
HP:0010461	Abnormality of the male genitalia	1183	CLCN4	ORPHA:485350
HP:0010461	Abnormality of the male genitalia	5424	POLD1	OMIM:615381
HP:0010461	Abnormality of the male genitalia	93627	TBCK	ORPHA:488632
HP:0010461	Abnormality of the male genitalia	200734	SPRED2	OMIM:619745
HP:0010461	Abnormality of the male genitalia	200734	SPRED2	ORPHA:648
HP:0010461	Abnormality of the male genitalia	1182	CLCN3	OMIM:619512
HP:0010461	Abnormality of the male genitalia	145258	GSC	OMIM:602471
HP:0010461	Abnormality of the male genitalia	2312	FLG	ORPHA:461
HP:0010461	Abnormality of the male genitalia	9993	DGCR2	OMIM:192430
HP:0010461	Abnormality of the male genitalia	8220	ESS2	OMIM:192430
HP:0010461	Abnormality of the male genitalia	8214	DGCR6	OMIM:192430
HP:0010461	Abnormality of the male genitalia	54487	DGCR8	OMIM:192430
HP:0010461	Abnormality of the male genitalia	5286	PIK3C2A	OMIM:618440
HP:0010461	Abnormality of the male genitalia	136647	MPLKIP	ORPHA:33364
HP:0010461	Abnormality of the male genitalia	6897	TARS1	ORPHA:33364
HP:0010461	Abnormality of the male genitalia	2961	GTF2E2	ORPHA:33364
HP:0010461	Abnormality of the male genitalia	6878	TAF6	OMIM:617126
HP:0010461	Abnormality of the male genitalia	6654	SOS1	OMIM:610733
HP:0010461	Abnormality of the male genitalia	6654	SOS1	ORPHA:648
HP:0010461	Abnormality of the male genitalia	5076	PAX2	ORPHA:97362
HP:0010461	Abnormality of the male genitalia	9759	HDAC4	OMIM:619797
HP:0010461	Abnormality of the male genitalia	51728	POLR3K	OMIM:619310
HP:0010461	Abnormality of the male genitalia	26275	HIBCH	ORPHA:88639
HP:0010461	Abnormality of the male genitalia	2710	GK	OMIM:307030
HP:0010461	Abnormality of the male genitalia	79068	FTO	OMIM:612938
HP:0010461	Abnormality of the male genitalia	10082	GPC6	OMIM:258315
HP:0010461	Abnormality of the male genitalia	10082	GPC6	ORPHA:93329
HP:0010461	Abnormality of the male genitalia	3265	HRAS	ORPHA:3071
HP:0010461	Abnormality of the male genitalia	3265	HRAS	ORPHA:2874
HP:0010461	Abnormality of the male genitalia	1822	ATN1	OMIM:618494
HP:0010461	Abnormality of the male genitalia	51715	RAB23	ORPHA:65759
HP:0010461	Abnormality of the male genitalia	51715	RAB23	OMIM:201000
HP:0010461	Abnormality of the male genitalia	29895	MYL11	OMIM:619110
HP:0010461	Abnormality of the male genitalia	1836	SLC26A2	ORPHA:628
HP:0010461	Abnormality of the male genitalia	90416	CCDC32	OMIM:619123
HP:0010461	Abnormality of the male genitalia	57020	VPS35L	OMIM:619135
HP:0010461	Abnormality of the male genitalia	1984	EIF5A	OMIM:619376
HP:0010461	Abnormality of the male genitalia	2733	GLE1	OMIM:611890
HP:0010461	Abnormality of the male genitalia	22800	RRAS2	ORPHA:648
HP:0010461	Abnormality of the male genitalia	867	CBL	ORPHA:648
HP:0010461	Abnormality of the male genitalia	867	CBL	OMIM:613563
HP:0010461	Abnormality of the male genitalia	6237	RRAS	ORPHA:648
HP:0010461	Abnormality of the male genitalia	22808	MRAS	ORPHA:648
HP:0010461	Abnormality of the male genitalia	5922	RASA2	ORPHA:648
HP:0010461	Abnormality of the male genitalia	59	ACTA2	OMIM:613834
HP:0010461	Abnormality of the male genitalia	4693	NDP	ORPHA:649
HP:0010461	Abnormality of the male genitalia	221692	PHACTR1	OMIM:618298
HP:0010461	Abnormality of the male genitalia	5605	MAP2K2	ORPHA:638
HP:0010461	Abnormality of the male genitalia	5605	MAP2K2	ORPHA:1340
HP:0010461	Abnormality of the male genitalia	9325	TRIP4	ORPHA:486815
HP:0010461	Abnormality of the male genitalia	83483	PLVAP	OMIM:618183
HP:0010461	Abnormality of the male genitalia	83700	JAM3	OMIM:613730
HP:0010461	Abnormality of the male genitalia	2904	GRIN2B	OMIM:613970
HP:0010461	Abnormality of the male genitalia	8854	ALDH1A2	OMIM:620025
HP:0010461	Abnormality of the male genitalia	3636	INPPL1	ORPHA:3144
HP:0010461	Abnormality of the male genitalia	23169	SLC35D1	ORPHA:3144
HP:0010461	Abnormality of the male genitalia	8496	PPFIBP1	OMIM:620024
HP:0010461	Abnormality of the male genitalia	26053	AUTS2	ORPHA:352490
HP:0010461	Abnormality of the male genitalia	5826	ABCD4	OMIM:614857
HP:0010461	Abnormality of the male genitalia	5594	MAPK1	OMIM:619087
HP:0010461	Abnormality of the male genitalia	25802	LMOD1	ORPHA:2241
HP:0010461	Abnormality of the male genitalia	4629	MYH11	ORPHA:2241
HP:0010461	Abnormality of the male genitalia	72	ACTG2	ORPHA:2241
HP:0010461	Abnormality of the male genitalia	4638	MYLK	ORPHA:2241
HP:0010461	Abnormality of the male genitalia	5832	ALDH18A1	OMIM:219150
HP:0010461	Abnormality of the male genitalia	84919	PPP1R15B	OMIM:616817
HP:0010461	Abnormality of the male genitalia	51244	CCDC174	OMIM:616816
HP:0010461	Abnormality of the male genitalia	5915	RARB	ORPHA:2470
HP:0010461	Abnormality of the male genitalia	5915	RARB	OMIM:615524
HP:0010461	Abnormality of the male genitalia	254065	BRWD3	OMIM:300659
HP:0010461	Abnormality of the male genitalia	3784	KCNQ1	OMIM:130650
HP:0010461	Abnormality of the male genitalia	7473	WNT3	ORPHA:3301
HP:0010461	Abnormality of the male genitalia	274	BIN1	ORPHA:169189
HP:0010461	Abnormality of the male genitalia	64419	MTMR14	ORPHA:169189
HP:0010461	Abnormality of the male genitalia	4618	MYF6	ORPHA:169189
HP:0010461	Abnormality of the male genitalia	1785	DNM2	ORPHA:169189
HP:0010461	Abnormality of the male genitalia	2702	GJA5	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	1482	NKX2-5	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	137814	NKX2-6	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	3791	KDR	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	2627	GATA6	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	2657	GDF1	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	182	JAG1	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	140628	GATA5	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	10370	CITED2	ORPHA:3303
HP:0010461	Abnormality of the male genitalia	5831	PYCR1	OMIM:614438
HP:0010461	Abnormality of the male genitalia	4297	KMT2A	OMIM:605130
HP:0010461	Abnormality of the male genitalia	2592	GALT	ORPHA:79239
HP:0010461	Abnormality of the male genitalia	10265	IRX5	OMIM:611174
HP:0010461	Abnormality of the male genitalia	7074	TIAM1	OMIM:619908
HP:0010461	Abnormality of the male genitalia	8905	AP1S2	ORPHA:1568
HP:0010461	Abnormality of the male genitalia	8241	RBM10	ORPHA:2886
HP:0010461	Abnormality of the male genitalia	5455	POU3F3	OMIM:618604
HP:0010461	Abnormality of the male genitalia	3251	HPRT1	OMIM:300322
HP:0010461	Abnormality of the male genitalia	7466	WFS1	OMIM:222300
HP:0010461	Abnormality of the male genitalia	5428	POLG	OMIM:157640
HP:0010461	Abnormality of the male genitalia	654	BMP6	ORPHA:465508
HP:0010461	Abnormality of the male genitalia	1760	DMPK	OMIM:160900
HP:0010461	Abnormality of the male genitalia	650	BMP2	OMIM:235200
HP:0010461	Abnormality of the male genitalia	7374	UNG	OMIM:608106
HP:0010461	Abnormality of the male genitalia	5696	PSMB8	OMIM:256040
HP:0010461	Abnormality of the male genitalia	3514	IGKC	ORPHA:183675
HP:0010461	Abnormality of the male genitalia	3501	IGHG2	ORPHA:183675
HP:0010461	Abnormality of the male genitalia	1718	DHCR24	OMIM:602398
HP:0010461	Abnormality of the male genitalia	6913	TBX15	OMIM:260660
HP:0010461	Abnormality of the male genitalia	54345	SOX18	OMIM:137940
HP:0010461	Abnormality of the male genitalia	54345	SOX18	ORPHA:69735
HP:0010461	Abnormality of the male genitalia	54345	SOX18	OMIM:607823
HP:0010461	Abnormality of the male genitalia	1802	DPH2	OMIM:620062
HP:0010461	Abnormality of the male genitalia	9780	PIEZO1	OMIM:616843
HP:0010461	Abnormality of the male genitalia	2324	FLT4	OMIM:153100
HP:0010461	Abnormality of the male genitalia	2324	FLT4	ORPHA:79452
HP:0010461	Abnormality of the male genitalia	285	ANGPT2	OMIM:619369
HP:0010461	Abnormality of the male genitalia	9508	ADAMTS3	OMIM:618154
HP:0010461	Abnormality of the male genitalia	9739	SETD1A	OMIM:618832
HP:0010461	Abnormality of the male genitalia	7841	MOGS	ORPHA:79330
HP:0010461	Abnormality of the male genitalia	57165	GJC2	ORPHA:79452
HP:0010461	Abnormality of the male genitalia	2122	MECOM	OMIM:616738
HP:0010461	Abnormality of the male genitalia	80267	EDEM3	OMIM:619493
HP:0010461	Abnormality of the male genitalia	9487	PIGL	OMIM:280000
HP:0010461	Abnormality of the male genitalia	55901	THSD1	OMIM:620244
HP:0010461	Abnormality of the male genitalia	29969	MDFIC	OMIM:620014
HP:0010461	Abnormality of the male genitalia	7424	VEGFC	OMIM:615907
HP:0010461	Abnormality of the male genitalia	472	ATM	ORPHA:100
HP:0010461	Abnormality of the male genitalia	2697	GJA1	ORPHA:317
HP:0010461	Abnormality of the male genitalia	2707	GJB3	ORPHA:317
HP:0010461	Abnormality of the male genitalia	2531	KDSR	ORPHA:317
HP:0010461	Abnormality of the male genitalia	127534	GJB4	ORPHA:317
HP:0010461	Abnormality of the male genitalia	10483	SEC23B	ORPHA:201
HP:0010461	Abnormality of the male genitalia	6390	SDHB	ORPHA:201
HP:0010461	Abnormality of the male genitalia	6392	SDHD	ORPHA:201
HP:0010461	Abnormality of the male genitalia	6391	SDHC	ORPHA:201
HP:0010461	Abnormality of the male genitalia	205717	USF3	ORPHA:201
HP:0010461	Abnormality of the male genitalia	5290	PIK3CA	ORPHA:201
HP:0010461	Abnormality of the male genitalia	100144748	KLLN	ORPHA:201
HP:0010461	Abnormality of the male genitalia	1857	DVL3	ORPHA:3107
HP:0010461	Abnormality of the male genitalia	7474	WNT5A	ORPHA:3107
HP:0010461	Abnormality of the male genitalia	1855	DVL1	ORPHA:3107
HP:0010461	Abnormality of the male genitalia	2535	FZD2	ORPHA:3107
HP:0010461	Abnormality of the male genitalia	3845	KRAS	ORPHA:3339
HP:0010461	Abnormality of the male genitalia	54361	WNT4	ORPHA:139466
HP:0010461	Abnormality of the male genitalia	63895	PIEZO2	ORPHA:2461
HP:0010461	Abnormality of the male genitalia	4089	SMAD4	ORPHA:2588
HP:0010461	Abnormality of the male genitalia	55733	HHAT	ORPHA:1422
HP:0010461	Abnormality of the male genitalia	55733	HHAT	OMIM:600092
HP:0010461	Abnormality of the male genitalia	268	AMH	ORPHA:2856
HP:0010461	Abnormality of the male genitalia	269	AMHR2	ORPHA:2856
HP:0010461	Abnormality of the male genitalia	84314	TMEM107	ORPHA:564
HP:0010461	Abnormality of the male genitalia	79867	TCTN2	ORPHA:564
HP:0010461	Abnormality of the male genitalia	80776	B9D2	ORPHA:564
HP:0010461	Abnormality of the male genitalia	79600	TCTN1	ORPHA:564
HP:0010461	Abnormality of the male genitalia	57096	RPGRIP1	ORPHA:564
HP:0010461	Abnormality of the male genitalia	79848	CSPP1	ORPHA:564
HP:0010461	Abnormality of the male genitalia	80184	CEP290	ORPHA:564
HP:0010461	Abnormality of the male genitalia	51259	TMEM216	ORPHA:564
HP:0010461	Abnormality of the male genitalia	57545	CC2D2A	ORPHA:564
HP:0010461	Abnormality of the male genitalia	79583	TMEM231	ORPHA:564
HP:0010461	Abnormality of the male genitalia	91147	TMEM67	ORPHA:564
HP:0010461	Abnormality of the male genitalia	79770	TXNDC15	ORPHA:564
HP:0010461	Abnormality of the male genitalia	27077	B9D1	ORPHA:564
HP:0010461	Abnormality of the male genitalia	23322	RPGRIP1L	ORPHA:564
HP:0010461	Abnormality of the male genitalia	54903	MKS1	ORPHA:564
HP:0010461	Abnormality of the male genitalia	65062	TMEM237	ORPHA:564
HP:0010461	Abnormality of the male genitalia	1761	DMRT1	ORPHA:242
HP:0010461	Abnormality of the male genitalia	84733	CBX2	ORPHA:242
HP:0010461	Abnormality of the male genitalia	1646	AKR1C2	OMIM:614279
HP:0010461	Abnormality of the male genitalia	1109	AKR1C4	OMIM:614279
HP:0010461	Abnormality of the male genitalia	3110	MNX1	ORPHA:1552
HP:0010461	Abnormality of the male genitalia	5567	PRKACB	ORPHA:289
HP:0010461	Abnormality of the male genitalia	2735	GLI1	ORPHA:289
HP:0010461	Abnormality of the male genitalia	2121	EVC	ORPHA:289
HP:0010461	Abnormality of the male genitalia	2121	EVC	OMIM:225500
HP:0010461	Abnormality of the male genitalia	51626	DYNC2LI1	ORPHA:289
HP:0010461	Abnormality of the male genitalia	132884	EVC2	ORPHA:289
HP:0010461	Abnormality of the male genitalia	132884	EVC2	OMIM:225500
HP:0010461	Abnormality of the male genitalia	29123	ANKRD11	OMIM:148050
HP:0010461	Abnormality of the male genitalia	26005	C2CD3	ORPHA:434179
HP:0010461	Abnormality of the male genitalia	26005	C2CD3	OMIM:615948
HP:0010461	Abnormality of the male genitalia	157570	ESCO2	OMIM:268300
HP:0010461	Abnormality of the male genitalia	157570	ESCO2	ORPHA:3103
HP:0010461	Abnormality of the male genitalia	3643	INSR	OMIM:262190
HP:0010461	Abnormality of the male genitalia	3643	INSR	OMIM:246200
HP:0010461	Abnormality of the male genitalia	3643	INSR	ORPHA:508
HP:0010461	Abnormality of the male genitalia	3643	INSR	ORPHA:769
HP:0010461	Abnormality of the male genitalia	1584	CYP11B1	OMIM:202010
HP:0010461	Abnormality of the male genitalia	1584	CYP11B1	ORPHA:90795
HP:0010461	Abnormality of the male genitalia	3756	KCNH1	OMIM:135500
HP:0010461	Abnormality of the male genitalia	2260	FGFR1	OMIM:190440
HP:0010461	Abnormality of the male genitalia	3973	LHCGR	ORPHA:3000
HP:0010461	Abnormality of the male genitalia	11128	POLR3A	OMIM:264090
HP:0010461	Abnormality of the male genitalia	83550	GPR101	ORPHA:963
HP:0010461	Abnormality of the male genitalia	9049	AIP	ORPHA:963
HP:0010461	Abnormality of the male genitalia	9839	ZEB2	ORPHA:261537
HP:0010461	Abnormality of the male genitalia	9839	ZEB2	ORPHA:261552
HP:0010461	Abnormality of the male genitalia	9791	PTDSS1	OMIM:151050
HP:0010461	Abnormality of the male genitalia	374879	ZNF699	OMIM:619488
HP:0010461	Abnormality of the male genitalia	23028	KDM1A	ORPHA:477993
HP:0010461	Abnormality of the male genitalia	23028	KDM1A	OMIM:616728
HP:0010461	Abnormality of the male genitalia	7750	ZMYM2	OMIM:619522
HP:0010461	Abnormality of the male genitalia	9578	CDC42BPB	OMIM:619841
HP:0010461	Abnormality of the male genitalia	1349	COX7B	OMIM:309801
HP:0010461	Abnormality of the male genitalia	3052	HCCS	OMIM:309801
HP:0010461	Abnormality of the male genitalia	54539	NDUFB11	OMIM:309801
HP:0010461	Abnormality of the male genitalia	1859	DYRK1A	ORPHA:268261
HP:0010461	Abnormality of the male genitalia	833	CARS1	OMIM:618891
HP:0010461	Abnormality of the male genitalia	4659	PPP1R12A	OMIM:618820
HP:0010461	Abnormality of the male genitalia	1028	CDKN1C	ORPHA:397590
HP:0010461	Abnormality of the male genitalia	5324	PLAG1	ORPHA:397590
HP:0010461	Abnormality of the male genitalia	8091	HMGA2	ORPHA:397590
HP:0010461	Abnormality of the male genitalia	60	ACTB	ORPHA:64755
HP:0010461	Abnormality of the male genitalia	2737	GLI3	ORPHA:672
HP:0010461	Abnormality of the male genitalia	341640	FREM2	ORPHA:2052
HP:0010461	Abnormality of the male genitalia	80144	FRAS1	ORPHA:2052
HP:0010461	Abnormality of the male genitalia	23426	GRIP1	ORPHA:2052
HP:0010461	Abnormality of the male genitalia	23426	GRIP1	OMIM:617667
HP:0010461	Abnormality of the male genitalia	5447	POR	OMIM:201750
HP:0010461	Abnormality of the male genitalia	25782	RAB3GAP2	OMIM:614225
HP:0010461	Abnormality of the male genitalia	201595	STT3B	OMIM:615597
HP:0010461	Abnormality of the male genitalia	201595	STT3B	ORPHA:370924
HP:0010461	Abnormality of the male genitalia	22931	RAB18	OMIM:614222
HP:0010461	Abnormality of the male genitalia	29957	SLC25A24	OMIM:612289
HP:0010461	Abnormality of the male genitalia	10056	FARSB	OMIM:613658
HP:0010461	Abnormality of the male genitalia	7681	MKRN3	OMIM:176270
HP:0010461	Abnormality of the male genitalia	3653	IPW	OMIM:176270
HP:0010461	Abnormality of the male genitalia	54551	MAGEL2	OMIM:176270
HP:0010461	Abnormality of the male genitalia	54551	MAGEL2	ORPHA:98754
HP:0010461	Abnormality of the male genitalia	54551	MAGEL2	ORPHA:177904
HP:0010461	Abnormality of the male genitalia	54551	MAGEL2	ORPHA:177901
HP:0010461	Abnormality of the male genitalia	54551	MAGEL2	ORPHA:398069
HP:0010461	Abnormality of the male genitalia	791114	PWRN1	OMIM:176270
HP:0010461	Abnormality of the male genitalia	100033413	SNORD116-1	OMIM:176270
HP:0010461	Abnormality of the male genitalia	8924	HERC2	OMIM:176270
HP:0010461	Abnormality of the male genitalia	145624	PWAR1	OMIM:176270
HP:0010461	Abnormality of the male genitalia	23742	NPAP1	OMIM:176270
HP:0010461	Abnormality of the male genitalia	338433	SNORD115-1	OMIM:176270
HP:0010461	Abnormality of the male genitalia	84172	POLR1B	ORPHA:861
HP:0010461	Abnormality of the male genitalia	9533	POLR1C	ORPHA:861
HP:0010461	Abnormality of the male genitalia	51082	POLR1D	ORPHA:861
HP:0010461	Abnormality of the male genitalia	6949	TCOF1	ORPHA:861
HP:0010461	Abnormality of the male genitalia	4983	OPHN1	OMIM:300486
HP:0010461	Abnormality of the male genitalia	51124	IER3IP1	OMIM:614231
HP:0010461	Abnormality of the male genitalia	23522	KAT6B	ORPHA:85201
HP:0010461	Abnormality of the male genitalia	23522	KAT6B	OMIM:606170
HP:0010461	Abnormality of the male genitalia	3664	IRF6	OMIM:119500
HP:0010461	Abnormality of the male genitalia	3664	IRF6	ORPHA:1300
HP:0010461	Abnormality of the male genitalia	84162	BLTP1	OMIM:617822
HP:0010461	Abnormality of the male genitalia	4010	LMX1B	ORPHA:495818
HP:0010461	Abnormality of the male genitalia	6812	STXBP1	ORPHA:495818
HP:0010461	Abnormality of the male genitalia	6492	SIM1	ORPHA:398079
HP:0010461	Abnormality of the male genitalia	22858	CILK1	OMIM:612651
HP:0010461	Abnormality of the male genitalia	6595	SMARCA2	ORPHA:2728
HP:0010461	Abnormality of the male genitalia	10982	MAPRE2	OMIM:616734
HP:0010461	Abnormality of the male genitalia	10982	MAPRE2	ORPHA:2505
HP:0010461	Abnormality of the male genitalia	5818	NECTIN1	ORPHA:3253
HP:0010461	Abnormality of the male genitalia	2068	ERCC2	OMIM:610756
HP:0010461	Abnormality of the male genitalia	6638	SNRPN	ORPHA:98754
HP:0010461	Abnormality of the male genitalia	6638	SNRPN	ORPHA:177904
HP:0010461	Abnormality of the male genitalia	6638	SNRPN	ORPHA:177901
HP:0010461	Abnormality of the male genitalia	4692	NDN	ORPHA:98754
HP:0010461	Abnormality of the male genitalia	4692	NDN	ORPHA:177904
HP:0010461	Abnormality of the male genitalia	4692	NDN	ORPHA:177901
HP:0010461	Abnormality of the male genitalia	4948	OCA2	ORPHA:98754
HP:0010461	Abnormality of the male genitalia	4948	OCA2	ORPHA:177904
HP:0010461	Abnormality of the male genitalia	4948	OCA2	ORPHA:177901
HP:0010461	Abnormality of the male genitalia	3703	STT3A	ORPHA:370921
HP:0010461	Abnormality of the male genitalia	7259	TSPYL1	ORPHA:168593
HP:0010461	Abnormality of the male genitalia	9968	MED12	OMIM:300895
HP:0010461	Abnormality of the male genitalia	546	ATRX	OMIM:309580
HP:0010461	Abnormality of the male genitalia	6261	RYR1	ORPHA:98905
HP:0010461	Abnormality of the male genitalia	7476	WNT7A	OMIM:276820
HP:0010461	Abnormality of the male genitalia	4621	MYH3	ORPHA:2990
HP:0010461	Abnormality of the male genitalia	1146	CHRNG	ORPHA:2990
HP:0010461	Abnormality of the male genitalia	84295	PHF6	ORPHA:127
HP:0010461	Abnormality of the male genitalia	79087	ALG12	OMIM:607143
HP:0010461	Abnormality of the male genitalia	3730	ANOS1	OMIM:308700
HP:0010461	Abnormality of the male genitalia	10908	PNPLA6	OMIM:245800
HP:0010461	Abnormality of the male genitalia	6926	TBX3	OMIM:181450
HP:0010461	Abnormality of the male genitalia	652	BMP4	OMIM:607932
HP:0010461	Abnormality of the male genitalia	8295	TRRAP	OMIM:618454
HP:0010461	Abnormality of the male genitalia	60529	ALX4	ORPHA:228390
HP:0010461	Abnormality of the male genitalia	128637	TBC1D20	OMIM:615663
HP:0010461	Abnormality of the male genitalia	203068	TUBB	ORPHA:2505
HP:0010461	Abnormality of the male genitalia	26040	SETBP1	OMIM:269150
HP:0010461	Abnormality of the male genitalia	23594	ORC6	OMIM:613803
HP:0010461	Abnormality of the male genitalia	6716	SRD5A2	ORPHA:753
HP:0010461	Abnormality of the male genitalia	26235	FBXL4	OMIM:615471
HP:0010461	Abnormality of the male genitalia	1947	EFNB1	ORPHA:1520
HP:0010461	Abnormality of the male genitalia	1947	EFNB1	OMIM:304110
HP:0010461	Abnormality of the male genitalia	23363	OBSL1	ORPHA:2616
HP:0010461	Abnormality of the male genitalia	83987	CCDC8	ORPHA:2616
HP:0010461	Abnormality of the male genitalia	81857	MED25	OMIM:616449
HP:0010461	Abnormality of the male genitalia	81857	MED25	ORPHA:464738
HP:0010461	Abnormality of the male genitalia	267010	RNU12	OMIM:603116
HP:0010461	Abnormality of the male genitalia	5932	RBBP8	OMIM:606744
HP:0010461	Abnormality of the male genitalia	116931	MED12L	OMIM:618872
HP:0010461	Abnormality of the male genitalia	8239	USP9X	OMIM:300919
HP:0010461	Abnormality of the male genitalia	5189	PEX1	OMIM:214100
HP:0010461	Abnormality of the male genitalia	5189	PEX1	ORPHA:912
HP:0010461	Abnormality of the male genitalia	4853	NOTCH2	OMIM:102500
HP:0010461	Abnormality of the male genitalia	4853	NOTCH2	ORPHA:955
HP:0010461	Abnormality of the male genitalia	7020	TFAP2A	OMIM:113620
HP:0010461	Abnormality of the male genitalia	1281	COL3A1	ORPHA:286
HP:0010461	Abnormality of the male genitalia	10815	CPLX1	ORPHA:280
HP:0010461	Abnormality of the male genitalia	10815	CPLX1	OMIM:194190
HP:0010461	Abnormality of the male genitalia	54872	PIGG	ORPHA:280
HP:0010461	Abnormality of the male genitalia	7469	NELFA	ORPHA:280
HP:0010461	Abnormality of the male genitalia	1487	CTBP1	ORPHA:280
HP:0010461	Abnormality of the male genitalia	1487	CTBP1	OMIM:194190
HP:0010461	Abnormality of the male genitalia	3954	LETM1	ORPHA:280
HP:0010461	Abnormality of the male genitalia	3954	LETM1	OMIM:194190
HP:0010461	Abnormality of the male genitalia	7468	NSD2	ORPHA:280
HP:0010461	Abnormality of the male genitalia	7468	NSD2	OMIM:194190
HP:0010461	Abnormality of the male genitalia	54968	TMEM70	OMIM:614052
HP:0010461	Abnormality of the male genitalia	54968	TMEM70	ORPHA:1194
HP:0010461	Abnormality of the male genitalia	57178	ZMIZ1	OMIM:618659
HP:0010461	Abnormality of the male genitalia	8642	DCHS1	OMIM:601390
HP:0010461	Abnormality of the male genitalia	8642	DCHS1	ORPHA:314679
HP:0010461	Abnormality of the male genitalia	2316	FLNA	ORPHA:90652
HP:0010461	Abnormality of the male genitalia	2316	FLNA	OMIM:304120
HP:0010461	Abnormality of the male genitalia	54888	NSUN2	ORPHA:235
HP:0010461	Abnormality of the male genitalia	54880	BCOR	OMIM:309800
HP:0010461	Abnormality of the male genitalia	54880	BCOR	ORPHA:568
HP:0010461	Abnormality of the male genitalia	54880	BCOR	OMIM:300166
HP:0010461	Abnormality of the male genitalia	54914	FOCAD	OMIM:619991
HP:0010461	Abnormality of the male genitalia	8363	H4C11	OMIM:619759
HP:0010461	Abnormality of the male genitalia	9772	TMEM94	OMIM:618316
HP:0010461	Abnormality of the male genitalia	9725	TMEM63A	OMIM:618688
HP:0010461	Abnormality of the male genitalia	6135	RPL11	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6138	RPL15	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6229	RPS24	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6125	RPL5	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6204	RPS10	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6224	RPS20	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6165	RPL35A	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6165	RPL35A	OMIM:612528
HP:0010461	Abnormality of the male genitalia	2623	GATA1	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6223	RPS19	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6232	RPS27	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6231	RPS26	ORPHA:124
HP:0010461	Abnormality of the male genitalia	11224	RPL35	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6160	RPL31	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6218	RPS17	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6201	RPS7	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6155	RPL27	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6154	RPL26	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6210	RPS15A	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6141	RPL18	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6235	RPS29	ORPHA:124
HP:0010461	Abnormality of the male genitalia	6234	RPS28	ORPHA:124
HP:0010461	Abnormality of the male genitalia	51816	ADA2	ORPHA:124
HP:0010461	Abnormality of the male genitalia	1523	CUX1	OMIM:618330
HP:0010461	Abnormality of the male genitalia	22827	PUF60	ORPHA:508498
HP:0010461	Abnormality of the male genitalia	6477	SIAH1	OMIM:619314
HP:0010461	Abnormality of the male genitalia	10765	KDM5B	OMIM:618109
HP:0010461	Abnormality of the male genitalia	5308	PITX2	ORPHA:782
HP:0010461	Abnormality of the male genitalia	5308	PITX2	OMIM:180500
HP:0010461	Abnormality of the male genitalia	2296	FOXC1	ORPHA:782
HP:0010461	Abnormality of the male genitalia	27125	AFF4	ORPHA:444077
HP:0010461	Abnormality of the male genitalia	29998	BICRA	OMIM:619325
HP:0010461	Abnormality of the male genitalia	3039	HBA1	ORPHA:98791
HP:0010461	Abnormality of the male genitalia	3040	HBA2	ORPHA:98791
HP:0010461	Abnormality of the male genitalia	1312	COMT	ORPHA:567
HP:0010461	Abnormality of the male genitalia	221037	JMJD1C	ORPHA:567
HP:0010461	Abnormality of the male genitalia	2812	GP1BB	ORPHA:567
HP:0010461	Abnormality of the male genitalia	6239	RREB1	ORPHA:567
HP:0010461	Abnormality of the male genitalia	6899	TBX1	ORPHA:567
HP:0010461	Abnormality of the male genitalia	7290	HIRA	ORPHA:567
HP:0010461	Abnormality of the male genitalia	9632	SEC24C	ORPHA:567
HP:0010461	Abnormality of the male genitalia	7353	UFD1	ORPHA:567
HP:0010461	Abnormality of the male genitalia	421	ARVCF	ORPHA:567
HP:0010461	Abnormality of the male genitalia	10524	KAT5	OMIM:619103
HP:0010461	Abnormality of the male genitalia	8802	SUCLG1	ORPHA:17
HP:0010461	Abnormality of the male genitalia	4700	NDUFA6	OMIM:618253
HP:0010461	Abnormality of the male genitalia	5144	PDE4D	ORPHA:439822
HP:0010461	Abnormality of the male genitalia	5144	PDE4D	OMIM:614613
HP:0010461	Abnormality of the male genitalia	5144	PDE4D	ORPHA:280651
HP:0010461	Abnormality of the male genitalia	2475	MTOR	ORPHA:457485
HP:0010461	Abnormality of the male genitalia	145173	B3GLCT	OMIM:261540
HP:0010461	Abnormality of the male genitalia	145173	B3GLCT	ORPHA:709
HP:0010461	Abnormality of the male genitalia	673	BRAF	ORPHA:500
HP:0010461	Abnormality of the male genitalia	673	BRAF	OMIM:163950
HP:0010461	Abnormality of the male genitalia	5894	RAF1	ORPHA:500
HP:0010461	Abnormality of the male genitalia	2887	GRB10	ORPHA:96182
HP:0010461	Abnormality of the male genitalia	22995	CEP152	OMIM:613823
HP:0010461	Abnormality of the male genitalia	6748	SSR4	OMIM:300934
HP:0010461	Abnormality of the male genitalia	219844	HYLS1	OMIM:236680
HP:0010461	Abnormality of the male genitalia	55181	SMG8	OMIM:619268
HP:0010461	Abnormality of the male genitalia	3735	KARS1	OMIM:619147
HP:0010461	Abnormality of the male genitalia	4713	NDUFB7	OMIM:620135
HP:0010461	Abnormality of the male genitalia	4702	NDUFA8	OMIM:619272
HP:0010461	Abnormality of the male genitalia	10128	LRPPRC	OMIM:220111
HP:0010461	Abnormality of the male genitalia	2294	FOXF1	OMIM:265380
HP:0010461	Abnormality of the male genitalia	23556	PIGN	ORPHA:2059
HP:0010461	Abnormality of the male genitalia	29072	SETD2	ORPHA:821
HP:0010461	Abnormality of the male genitalia	10297	APC2	ORPHA:821
HP:0010461	Abnormality of the male genitalia	55780	ERMARD	ORPHA:75857
HP:0010461	Abnormality of the male genitalia	9382	COG1	OMIM:611209
HP:0010461	Abnormality of the male genitalia	57492	ARID1B	OMIM:135900
HP:0010461	Abnormality of the male genitalia	57492	ARID1B	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	1136	CHRNA3	OMIM:191800
HP:0010461	Abnormality of the male genitalia	672	BRCA1	ORPHA:84
HP:0010461	Abnormality of the male genitalia	10459	MAD2L2	ORPHA:84
HP:0010461	Abnormality of the male genitalia	29089	UBE2T	ORPHA:84
HP:0010461	Abnormality of the male genitalia	675	BRCA2	ORPHA:84
HP:0010461	Abnormality of the male genitalia	2175	FANCA	ORPHA:84
HP:0010461	Abnormality of the male genitalia	2176	FANCC	ORPHA:84
HP:0010461	Abnormality of the male genitalia	2178	FANCE	ORPHA:84
HP:0010461	Abnormality of the male genitalia	2189	FANCG	ORPHA:84
HP:0010461	Abnormality of the male genitalia	5888	RAD51	ORPHA:84
HP:0010461	Abnormality of the male genitalia	5889	RAD51C	ORPHA:84
HP:0010461	Abnormality of the male genitalia	55159	RFWD3	ORPHA:84
HP:0010461	Abnormality of the male genitalia	83990	BRIP1	ORPHA:84
HP:0010461	Abnormality of the male genitalia	79728	PALB2	ORPHA:84
HP:0010461	Abnormality of the male genitalia	84464	SLX4	ORPHA:84
HP:0010461	Abnormality of the male genitalia	55215	FANCI	ORPHA:84
HP:0010461	Abnormality of the male genitalia	7080	NKX2-1	ORPHA:209905
HP:0010461	Abnormality of the male genitalia	222663	SCUBE3	OMIM:619184
HP:0010461	Abnormality of the male genitalia	83879	CDCA7	OMIM:616910
HP:0010461	Abnormality of the male genitalia	53834	FGFRL1	OMIM:194190
HP:0010461	Abnormality of the male genitalia	5080	PAX6	OMIM:194072
HP:0010461	Abnormality of the male genitalia	5828	PEX2	OMIM:614866
HP:0010461	Abnormality of the male genitalia	5828	PEX2	ORPHA:912
HP:0010461	Abnormality of the male genitalia	57459	GATAD2B	ORPHA:363686
HP:0010461	Abnormality of the male genitalia	9652	SKIC3	OMIM:222470
HP:0010461	Abnormality of the male genitalia	5631	PRPS1	OMIM:300661
HP:0010461	Abnormality of the male genitalia	55670	PEX26	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5824	PEX19	ORPHA:912
HP:0010461	Abnormality of the male genitalia	8504	PEX3	ORPHA:912
HP:0010461	Abnormality of the male genitalia	8799	PEX11B	ORPHA:912
HP:0010461	Abnormality of the male genitalia	9409	PEX16	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5190	PEX6	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5830	PEX5	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5193	PEX12	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5194	PEX13	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5195	PEX14	ORPHA:912
HP:0010461	Abnormality of the male genitalia	5192	PEX10	ORPHA:912
HP:0010461	Abnormality of the male genitalia	10159	ATP6AP2	OMIM:301045
HP:0010461	Abnormality of the male genitalia	10586	MAB21L2	OMIM:615877
HP:0010461	Abnormality of the male genitalia	55209	SETD5	OMIM:615761
HP:0010461	Abnormality of the male genitalia	998	CDC42	OMIM:616737
HP:0010461	Abnormality of the male genitalia	998	CDC42	ORPHA:487796
HP:0010461	Abnormality of the male genitalia	8831	SYNGAP1	ORPHA:544254
HP:0010461	Abnormality of the male genitalia	6597	SMARCA4	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6598	SMARCB1	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6659	SOX4	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	8289	ARID1A	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	5977	DPF2	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6601	SMARCC2	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6602	SMARCD1	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	196528	ARID2	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6605	SMARCE1	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	6664	SOX11	ORPHA:1465
HP:0010461	Abnormality of the male genitalia	134701	RIPPLY2	ORPHA:2311
HP:0010461	Abnormality of the male genitalia	10683	DLL3	ORPHA:2311
HP:0010461	Abnormality of the male genitalia	3955	LFNG	ORPHA:2311
HP:0010461	Abnormality of the male genitalia	84667	HES7	ORPHA:2311
HP:0010461	Abnormality of the male genitalia	145873	MESP2	ORPHA:2311
HP:0010461	Abnormality of the male genitalia	25	ABL1	OMIM:617602
HP:0010461	Abnormality of the male genitalia	545	ATR	OMIM:210600
HP:0010461	Abnormality of the male genitalia	5116	PCNT	OMIM:210720
HP:0010461	Abnormality of the male genitalia	5723	PSPH	ORPHA:79350
HP:0010461	Abnormality of the male genitalia	1589	CYP21A2	OMIM:201910
HP:0010461	Abnormality of the male genitalia	4796	TONSL	ORPHA:93357
HP:0010461	Abnormality of the male genitalia	5879	RAC1	OMIM:617751
HP:0010461	Abnormality of the male genitalia	5879	RAC1	ORPHA:500159
HP:0010461	Abnormality of the male genitalia	51780	KDM3B	OMIM:618846
HP:0010461	Abnormality of the male genitalia	4724	NDUFS4	OMIM:252010
HP:0010461	Abnormality of the male genitalia	1468	SLC25A10	OMIM:618972
HP:0010461	Abnormality of the male genitalia	5604	MAP2K1	OMIM:163950
HP:0010461	Abnormality of the male genitalia	26128	KIFBP	ORPHA:66629
HP:0010461	Abnormality of the male genitalia	51733	UPB1	OMIM:613161
HP:0010461	Abnormality of the male genitalia	51651	PTRH2	OMIM:616263
HP:0010461	Abnormality of the male genitalia	51651	PTRH2	ORPHA:456312
HP:0010461	Abnormality of the male genitalia	3975	LHX1	ORPHA:261265
HP:0010461	Abnormality of the male genitalia	340533	NEXMIF	ORPHA:85277
HP:0010461	Abnormality of the male genitalia	54499	TMCO1	OMIM:213980
HP:0010461	Abnormality of the male genitalia	9496	TBX4	ORPHA:261279
HP:0010461	Abnormality of the male genitalia	23384	SPECC1L	OMIM:145420
HP:0010461	Abnormality of the male genitalia	23384	SPECC1L	ORPHA:1519
HP:0010461	Abnormality of the male genitalia	124512	METTL23	OMIM:615942
HP:0010461	Abnormality of the male genitalia	4000	LMNA	ORPHA:740
HP:0010461	Abnormality of the male genitalia	10269	ZMPSTE24	ORPHA:740
HP:0010461	Abnormality of the male genitalia	8087	FXR1	OMIM:618823
HP:0010461	Abnormality of the male genitalia	10274	STAG1	ORPHA:502434
HP:0010461	Abnormality of the male genitalia	4204	MECP2	OMIM:300055
HP:0010461	Abnormality of the male genitalia	4204	MECP2	ORPHA:3077
HP:0010461	Abnormality of the male genitalia	27316	RBMX	OMIM:300238
HP:0010461	Abnormality of the male genitalia	8367	H4C5	OMIM:619950
HP:0010461	Abnormality of the male genitalia	4763	NF1	ORPHA:139474
HP:0010461	Abnormality of the male genitalia	11141	IL1RAPL1	OMIM:300143
HP:0010461	Abnormality of the male genitalia	1193	CLIC2	OMIM:300886
HP:0010461	Abnormality of the male genitalia	1193	CLIC2	ORPHA:324410
HP:0010461	Abnormality of the male genitalia	175	AGA	OMIM:208400
HP:0010461	Abnormality of the male genitalia	175	AGA	ORPHA:93
HP:0010461	Abnormality of the male genitalia	51114	ZDHHC9	ORPHA:776
HP:0010461	Abnormality of the male genitalia	65109	UPF3B	ORPHA:776
HP:0010461	Abnormality of the male genitalia	7252	TSHB	ORPHA:90674
HP:0010461	Abnormality of the male genitalia	8294	H4C9	OMIM:619951
HP:0010461	Abnormality of the male genitalia	4750	NEK1	OMIM:263520
HP:0010461	Abnormality of the male genitalia	6938	TCF12	OMIM:619718
HP:0010461	Abnormality of the male genitalia	91801	ALKBH8	OMIM:618504
HP:0010461	Abnormality of the male genitalia	4281	MID1	OMIM:300000
HP:0010461	Abnormality of the male genitalia	374654	KIF7	OMIM:200990
HP:0010461	Abnormality of the male genitalia	58	ACTA1	ORPHA:171430
HP:0010461	Abnormality of the male genitalia	4703	NEB	ORPHA:171430
HP:0010461	Abnormality of the male genitalia	131377	KLHL40	ORPHA:171430
HP:0010461	Abnormality of the male genitalia	10324	KLHL41	ORPHA:171430
HP:0010461	Abnormality of the male genitalia	56203	LMOD3	ORPHA:171430
HP:0010461	Abnormality of the male genitalia	1723	DHODH	OMIM:263750
HP:0010461	Abnormality of the male genitalia	1841	DTYMK	OMIM:619847
HP:0010461	Abnormality of the male genitalia	56623	INPP5E	ORPHA:75858
HP:0010461	Abnormality of the male genitalia	56623	INPP5E	OMIM:610156
HP:0010461	Abnormality of the male genitalia	1161	ERCC8	OMIM:216400
HP:0010461	Abnormality of the male genitalia	1889	ECE1	OMIM:613870
HP:0010461	Abnormality of the male genitalia	2688	GH1	OMIM:612781
HP:0010461	Abnormality of the male genitalia	815	CAMK2A	OMIM:617798
HP:0010461	Abnormality of the male genitalia	84823	LMNB2	OMIM:619180
HP:0010461	Abnormality of the male genitalia	9896	FIG4	ORPHA:3472
HP:0010461	Abnormality of the male genitalia	9896	FIG4	OMIM:216340
HP:0010461	Abnormality of the male genitalia	55697	VAC14	ORPHA:3472
HP:0010461	Abnormality of the male genitalia	283987	HID1	OMIM:619983
HP:0010461	Abnormality of the male genitalia	1656	DDX6	OMIM:618653
HP:0010461	Abnormality of the male genitalia	132158	GLYCTK	OMIM:220120
HP:0010461	Abnormality of the male genitalia	55148	UBR7	OMIM:619189
HP:0010461	Abnormality of the male genitalia	1954	MEGF8	OMIM:614976
HP:0010461	Abnormality of the male genitalia	2783	GNB2	OMIM:619503
HP:0010461	Abnormality of the male genitalia	253738	EBF3	OMIM:617330
HP:0010461	Abnormality of the male genitalia	8879	SGPL1	OMIM:617575
HP:0010461	Abnormality of the male genitalia	10236	HNRNPR	OMIM:620073
HP:0010461	Abnormality of the male genitalia	79718	TBL1XR1	OMIM:602342
HP:0010461	Abnormality of the male genitalia	5700	PSMC1	OMIM:620071
HP:0010461	Abnormality of the male genitalia	79228	THOC6	ORPHA:363444
HP:0010461	Abnormality of the male genitalia	59336	PRDM13	OMIM:619761
HP:0010461	Abnormality of the male genitalia	5591	PRKDC	OMIM:615966
HP:0010461	Abnormality of the male genitalia	6925	TCF4	OMIM:610954
HP:0010461	Abnormality of the male genitalia	6925	TCF4	ORPHA:2896
HP:0010461	Abnormality of the male genitalia	3911	LAMA5	OMIM:620076
HP:0010461	Abnormality of the male genitalia	55120	FANCL	OMIM:614083
HP:0010461	Abnormality of the male genitalia	10661	KLF1	OMIM:613673
HP:0010461	Abnormality of the male genitalia	701	BUB1B	OMIM:257300
HP:0010461	Abnormality of the male genitalia	5781	PTPN11	OMIM:151100
HP:0010461	Abnormality of the male genitalia	54101	RIPK4	OMIM:263650
HP:0010461	Abnormality of the male genitalia	27152	INTU	OMIM:617925
HP:0010461	Abnormality of the male genitalia	27152	INTU	OMIM:617926
HP:0010461	Abnormality of the male genitalia	5426	POLE	OMIM:618336
HP:0010461	Abnormality of the male genitalia	7319	UBE2A	ORPHA:163956
HP:0010461	Abnormality of the male genitalia	7319	UBE2A	OMIM:300860
HP:0010461	Abnormality of the male genitalia	10535	RNASEH2A	ORPHA:51
HP:0010461	Abnormality of the male genitalia	84153	RNASEH2C	ORPHA:51
HP:0010461	Abnormality of the male genitalia	25939	SAMHD1	ORPHA:51
HP:0010461	Abnormality of the male genitalia	79621	RNASEH2B	ORPHA:51
HP:0010461	Abnormality of the male genitalia	103	ADAR	ORPHA:51
HP:0010461	Abnormality of the male genitalia	11277	TREX1	ORPHA:51
HP:0010461	Abnormality of the male genitalia	100147744	RNU7-1	ORPHA:51
HP:0010461	Abnormality of the male genitalia	100147744	RNU7-1	OMIM:619487
HP:0010461	Abnormality of the male genitalia	134353	LSM11	ORPHA:51
HP:0010461	Abnormality of the male genitalia	64135	IFIH1	ORPHA:51
HP:0010461	Abnormality of the male genitalia	6792	CDKL5	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	3736	KCNA1	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	9091	PIGQ	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	2775	GNAO1	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	81603	TRIM8	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	2902	GRIN1	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	79751	SLC25A22	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	150094	SIK1	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	8573	CASK	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	2917	GRM7	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	11284	PNKP	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	6326	SCN2A	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	51227	PIGP	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	6324	SCN1B	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	4761	NEUROD2	ORPHA:1934
HP:0010461	Abnormality of the male genitalia	10075	HUWE1	OMIM:309590
HP:0010461	Abnormality of the male genitalia	2074	ERCC6	OMIM:133540
HP:0010461	Abnormality of the male genitalia	10466	COG5	ORPHA:263487
HP:0010461	Abnormality of the male genitalia	56896	DPYSL5	OMIM:619435
HP:0010461	Abnormality of the male genitalia	2187	FANCB	OMIM:300514
HP:0010461	Abnormality of the male genitalia	100151683	RNU4ATAC	OMIM:210710
HP:0010461	Abnormality of the male genitalia	55593	OTUD5	OMIM:301056
HP:0010461	Abnormality of the male genitalia	113179	ADAT3	ORPHA:363528
HP:0010461	Abnormality of the male genitalia	55784	MCTP2	ORPHA:1596
HP:0010461	Abnormality of the male genitalia	1363	CPE	OMIM:619326
HP:0010461	Abnormality of the male genitalia	29925	GMPPB	ORPHA:370968
HP:0010461	Abnormality of the male genitalia	8925	HERC1	ORPHA:457359
HP:0010461	Abnormality of the male genitalia	7874	USP7	OMIM:616863
HP:0010461	Abnormality of the male genitalia	7874	USP7	ORPHA:500055
HP:0010461	Abnormality of the male genitalia	1108	CHD4	OMIM:617159
HP:0010461	Abnormality of the male genitalia	1000	CDH2	OMIM:618929
HP:0010461	Abnormality of the male genitalia	80311	KLHL15	OMIM:300982
HP:0010461	Abnormality of the male genitalia	1641	DCX	OMIM:300067
HP:0010461	Abnormality of the male genitalia	7317	UBA1	OMIM:301830
HP:0010461	Abnormality of the male genitalia	5277	PIGA	OMIM:300868
HP:0010461	Abnormality of the male genitalia	55210	ATAD3A	OMIM:618810
HP:0010461	Abnormality of the male genitalia	79633	FAT4	OMIM:615546
HP:0010461	Abnormality of the male genitalia	4990	SIX6	OMIM:206900
HP:0010461	Abnormality of the male genitalia	9851	KIAA0753	OMIM:619479
HP:0010461	Abnormality of the male genitalia	2892	GRIA3	ORPHA:364028
HP:0010461	Abnormality of the male genitalia	348180	CTU2	OMIM:618142
HP:0010461	Abnormality of the male genitalia	340419	RSPO2	OMIM:618021
HP:0010461	Abnormality of the male genitalia	6711	SPTBN1	OMIM:619475
HP:0010461	Abnormality of the male genitalia	95681	CEP41	OMIM:614464
HP:0010461	Abnormality of the male genitalia	6608	SMO	OMIM:241800
HP:0010461	Abnormality of the male genitalia	80152	CENPT	OMIM:618702
HP:0010461	Abnormality of the male genitalia	80036	TRPM3	OMIM:620224
HP:0010461	Abnormality of the male genitalia	2132	EXT2	ORPHA:52022
HP:0010461	Abnormality of the male genitalia	51317	PHF21A	ORPHA:52022
HP:0010461	Abnormality of the male genitalia	8567	MADD	OMIM:619004
HP:0010461	Abnormality of the male genitalia	8567	MADD	OMIM:619005
HP:0010461	Abnormality of the male genitalia	202018	TAPT1	OMIM:616897
HP:0010461	Abnormality of the male genitalia	2177	FANCD2	OMIM:227646
HP:0010461	Abnormality of the male genitalia	4047	LSS	OMIM:618840
HP:0010461	Abnormality of the male genitalia	23247	KATNIP	OMIM:616784
HP:0010461	Abnormality of the male genitalia	9786	KIAA0586	OMIM:616546
HP:0010461	Abnormality of the male genitalia	5718	PSMD12	OMIM:617516
HP:0010461	Abnormality of the male genitalia	5087	PBX1	OMIM:617641
HP:0010461	Abnormality of the male genitalia	523	ATP6V1A	OMIM:617403
HP:0010461	Abnormality of the male genitalia	529	ATP6V1E1	OMIM:617402
HP:0010461	Abnormality of the male genitalia	3209	HOXA13	OMIM:176305
HP:0010461	Abnormality of the male genitalia	8195	MKKS	ORPHA:2473
HP:0010461	Abnormality of the male genitalia	389827	MYMK	ORPHA:1358
HP:0010461	Abnormality of the male genitalia	101929726	MYMX	ORPHA:1358
HP:0010461	Abnormality of the male genitalia	1717	DHCR7	OMIM:270400
HP:0010461	Abnormality of the male genitalia	372	ARCN1	OMIM:617164
HP:0010461	Abnormality of the male genitalia	10584	COLEC10	OMIM:248340
HP:0010461	Abnormality of the male genitalia	1009	CDH11	ORPHA:1299
HP:0010461	Abnormality of the male genitalia	1009	CDH11	OMIM:211380
HP:0010461	Abnormality of the male genitalia	55612	FERMT1	OMIM:173650
HP:0010461	Abnormality of the male genitalia	55612	FERMT1	ORPHA:2908
HP:0010461	Abnormality of the male genitalia	10664	CTCF	ORPHA:363611
HP:0010461	Abnormality of the male genitalia	1588	CYP19A1	ORPHA:91
HP:0010461	Abnormality of the male genitalia	3187	HNRNPH1	OMIM:620083
HP:0010461	Abnormality of the male genitalia	57724	EPG5	OMIM:242840
HP:0010461	Abnormality of the male genitalia	10046	MAMLD1	ORPHA:456328
HP:0010461	Abnormality of the male genitalia	4534	MTM1	ORPHA:456328
HP:0010461	Abnormality of the male genitalia	2263	FGFR2	ORPHA:1555
HP:0010461	Abnormality of the male genitalia	2263	FGFR2	OMIM:123790
HP:0010461	Abnormality of the male genitalia	6794	STK11	OMIM:175200
HP:0010461	Abnormality of the male genitalia	2332	FMR1	OMIM:300624
HP:0010461	Abnormality of the male genitalia	3476	IGBP1	OMIM:300472
HP:0010461	Abnormality of the male genitalia	2245	FGD1	OMIM:305400
HP:0010461	Abnormality of the male genitalia	26137	ZBTB20	OMIM:259050
HP:0010461	Abnormality of the male genitalia	26137	ZBTB20	ORPHA:3042
HP:0010461	Abnormality of the male genitalia	55610	VPS50	OMIM:619685
HP:0010461	Abnormality of the male genitalia	2222	FDFT1	OMIM:618156
HP:0010461	Abnormality of the male genitalia	4953	ODC1	ORPHA:544488
HP:0010461	Abnormality of the male genitalia	7291	TWIST1	OMIM:617746
HP:0010461	Abnormality of the male genitalia	50485	SMARCAL1	OMIM:242900
HP:0010461	Abnormality of the male genitalia	10667	FARS2	ORPHA:466722
HP:0010461	Abnormality of the male genitalia	4841	NONO	ORPHA:466791
HP:0010461	Abnormality of the male genitalia	55870	ASH1L	OMIM:617796
HP:0010461	Abnormality of the male genitalia	7994	KAT6A	OMIM:616268
HP:0010461	Abnormality of the male genitalia	5648	MASP1	ORPHA:293843
HP:0010461	Abnormality of the male genitalia	78989	COLEC11	ORPHA:293843
HP:0010461	Abnormality of the male genitalia	5147	PDE6D	ORPHA:2754
HP:0010461	Abnormality of the male genitalia	65250	CPLANE1	ORPHA:2754
HP:0010461	Abnormality of the male genitalia	317662	FAM149B1	ORPHA:2754
HP:0010461	Abnormality of the male genitalia	404672	GTF2H5	OMIM:616395
HP:0010461	Abnormality of the male genitalia	22884	WDR37	OMIM:618652
HP:0010461	Abnormality of the male genitalia	4174	MCM5	OMIM:617564
HP:0010461	Abnormality of the male genitalia	4081	MAB21L1	OMIM:618479
HP:0010461	Abnormality of the male genitalia	1586	CYP17A1	ORPHA:90796
HP:0010461	Abnormality of the male genitalia	1586	CYP17A1	ORPHA:90793
HP:0010461	Abnormality of the male genitalia	3293	HSD17B3	OMIM:264300
HP:0010461	Abnormality of the male genitalia	81848	SPRY4	ORPHA:432
HP:0010461	Abnormality of the male genitalia	81848	SPRY4	OMIM:146110
HP:0010461	Abnormality of the male genitalia	81848	SPRY4	ORPHA:478
HP:0010461	Abnormality of the male genitalia	128674	PROKR2	ORPHA:432
HP:0010461	Abnormality of the male genitalia	128674	PROKR2	ORPHA:478
HP:0010461	Abnormality of the male genitalia	2253	FGF8	ORPHA:432
HP:0010461	Abnormality of the male genitalia	2253	FGF8	ORPHA:478
HP:0010461	Abnormality of the male genitalia	60675	PROK2	ORPHA:432
HP:0010461	Abnormality of the male genitalia	60675	PROK2	OMIM:610628
HP:0010461	Abnormality of the male genitalia	60675	PROK2	ORPHA:478
HP:0010461	Abnormality of the male genitalia	55636	CHD7	ORPHA:432
HP:0010461	Abnormality of the male genitalia	55636	CHD7	ORPHA:478
HP:0010461	Abnormality of the male genitalia	1848	DUSP6	ORPHA:432
HP:0010461	Abnormality of the male genitalia	1848	DUSP6	OMIM:146110
HP:0010461	Abnormality of the male genitalia	1848	DUSP6	ORPHA:478
HP:0010461	Abnormality of the male genitalia	26012	NSMF	ORPHA:432
HP:0010461	Abnormality of the male genitalia	26012	NSMF	OMIM:614838
HP:0010461	Abnormality of the male genitalia	55717	WDR11	ORPHA:432
HP:0010461	Abnormality of the male genitalia	55717	WDR11	OMIM:146110
HP:0010461	Abnormality of the male genitalia	55717	WDR11	OMIM:614858
HP:0010461	Abnormality of the male genitalia	55717	WDR11	ORPHA:478
HP:0010461	Abnormality of the male genitalia	9394	HS6ST1	ORPHA:432
HP:0010461	Abnormality of the male genitalia	9394	HS6ST1	OMIM:614880
HP:0010461	Abnormality of the male genitalia	9394	HS6ST1	ORPHA:478
HP:0010461	Abnormality of the male genitalia	2796	GNRH1	ORPHA:432
HP:0010461	Abnormality of the male genitalia	2796	GNRH1	OMIM:614841
HP:0010461	Abnormality of the male genitalia	2796	GNRH1	OMIM:146110
HP:0010461	Abnormality of the male genitalia	2798	GNRHR	ORPHA:432
HP:0010461	Abnormality of the male genitalia	2798	GNRHR	OMIM:146110
HP:0010461	Abnormality of the male genitalia	84634	KISS1R	ORPHA:432
HP:0010461	Abnormality of the male genitalia	84634	KISS1R	OMIM:614837
HP:0010461	Abnormality of the male genitalia	6866	TAC3	ORPHA:432
HP:0010461	Abnormality of the male genitalia	8822	FGF17	ORPHA:432
HP:0010461	Abnormality of the male genitalia	8822	FGF17	OMIM:146110
HP:0010461	Abnormality of the male genitalia	8822	FGF17	ORPHA:478
HP:0010461	Abnormality of the male genitalia	3814	KISS1	ORPHA:432
HP:0010461	Abnormality of the male genitalia	6658	SOX3	ORPHA:393
HP:0010461	Abnormality of the male genitalia	6658	SOX3	ORPHA:90695
HP:0010461	Abnormality of the male genitalia	8450	CUL4B	OMIM:300354
HP:0010461	Abnormality of the male genitalia	8450	CUL4B	ORPHA:85293
HP:0010461	Abnormality of the male genitalia	3763	KCNJ6	ORPHA:435628
HP:0010461	Abnormality of the male genitalia	6134	RPL10	OMIM:300998
HP:0010461	Abnormality of the male genitalia	6134	RPL10	ORPHA:459070
HP:0010461	Abnormality of the male genitalia	8473	OGT	OMIM:300997
HP:0010461	Abnormality of the male genitalia	23314	SATB2	ORPHA:251028
HP:0010461	Abnormality of the male genitalia	23314	SATB2	ORPHA:251019
HP:0010461	Abnormality of the male genitalia	84515	MCM8	OMIM:612885
HP:0010461	Abnormality of the male genitalia	1736	DKC1	OMIM:305000
HP:0010461	Abnormality of the male genitalia	1131	CHRM3	ORPHA:2970
HP:0010461	Abnormality of the male genitalia	2200	FBN1	ORPHA:284979
HP:0010461	Abnormality of the male genitalia	7258	TSPY1	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	57055	DAZ2	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	57135	DAZ4	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	8287	USP9Y	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	5940	RBMY1A1	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	57054	DAZ3	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	8653	DDX3Y	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	1617	DAZ1	ORPHA:1646
HP:0010461	Abnormality of the male genitalia	10084	PQBP1	ORPHA:93950
HP:0010461	Abnormality of the male genitalia	10084	PQBP1	OMIM:309500
HP:0010461	Abnormality of the male genitalia	9150	CTDP1	OMIM:604168
HP:0010461	Abnormality of the male genitalia	55869	HDAC8	OMIM:300882
HP:0010461	Abnormality of the male genitalia	201134	CEP112	OMIM:619044
HP:0010461	Abnormality of the male genitalia	8882	ZPR1	OMIM:619321
HP:0010461	Abnormality of the male genitalia	131118	DNAJC19	OMIM:610198
HP:0010461	Abnormality of the male genitalia	140801	RPL10L	OMIM:619689
HP:0010461	Abnormality of the male genitalia	3952	LEP	ORPHA:66628
HP:0010461	Abnormality of the male genitalia	3952	LEP	OMIM:614962
HP:0010461	Abnormality of the male genitalia	7298	TYMS	OMIM:620040
HP:0010461	Abnormality of the male genitalia	170302	ARX	OMIM:300215
HP:0010461	Abnormality of the male genitalia	51132	RLIM	OMIM:300978
HP:0010461	Abnormality of the male genitalia	57697	FANCM	OMIM:618086
HP:0010461	Abnormality of the male genitalia	57697	FANCM	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	8260	NAA10	OMIM:300855
HP:0010461	Abnormality of the male genitalia	84100	ARL6	OMIM:209900
HP:0010461	Abnormality of the male genitalia	79140	CCDC28B	OMIM:209900
HP:0010461	Abnormality of the male genitalia	582	BBS1	OMIM:209900
HP:0010461	Abnormality of the male genitalia	79184	BRCC3	ORPHA:280679
HP:0010461	Abnormality of the male genitalia	284654	RSPO1	OMIM:610644
HP:0010461	Abnormality of the male genitalia	9820	CUL7	OMIM:273750
HP:0010461	Abnormality of the male genitalia	23116	TOGARAM1	OMIM:619185
HP:0010461	Abnormality of the male genitalia	55630	SLC39A4	OMIM:201100
HP:0010461	Abnormality of the male genitalia	23312	DMXL2	OMIM:616113
HP:0010461	Abnormality of the male genitalia	23312	DMXL2	ORPHA:453533
HP:0010461	Abnormality of the male genitalia	56154	TEX15	OMIM:617960
HP:0010461	Abnormality of the male genitalia	56154	TEX15	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	6885	MAP3K7	OMIM:157800
HP:0010461	Abnormality of the male genitalia	9723	SEMA3E	OMIM:146110
HP:0010461	Abnormality of the male genitalia	558	AXL	OMIM:146110
HP:0010461	Abnormality of the male genitalia	10011	SRA1	OMIM:146110
HP:0010461	Abnormality of the male genitalia	285025	CCDC141	OMIM:146110
HP:0010461	Abnormality of the male genitalia	285025	CCDC141	ORPHA:478
HP:0010461	Abnormality of the male genitalia	389549	FEZF1	OMIM:146110
HP:0010461	Abnormality of the male genitalia	389549	FEZF1	OMIM:616030
HP:0010461	Abnormality of the male genitalia	389549	FEZF1	ORPHA:478
HP:0010461	Abnormality of the male genitalia	3953	LEPR	ORPHA:179494
HP:0010461	Abnormality of the male genitalia	340719	NANOS1	ORPHA:399808
HP:0010461	Abnormality of the male genitalia	340719	NANOS1	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	7737	RNF113A	OMIM:300953
HP:0010461	Abnormality of the male genitalia	80067	DCAF17	ORPHA:3464
HP:0010461	Abnormality of the male genitalia	80067	DCAF17	OMIM:241080
HP:0010461	Abnormality of the male genitalia	5626	PROP1	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	5626	PROP1	ORPHA:90695
HP:0010461	Abnormality of the male genitalia	2736	GLI2	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	89884	LHX4	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	3170	FOXA2	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	5449	POU1F1	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	8820	HESX1	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	8820	HESX1	ORPHA:478
HP:0010461	Abnormality of the male genitalia	5015	OTX2	ORPHA:95494
HP:0010461	Abnormality of the male genitalia	11041	B4GAT1	OMIM:615287
HP:0010461	Abnormality of the male genitalia	26227	PHGDH	OMIM:601815
HP:0010461	Abnormality of the male genitalia	154197	PNLDC1	OMIM:619528
HP:0010461	Abnormality of the male genitalia	154197	PNLDC1	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	57704	GBA2	ORPHA:320391
HP:0010461	Abnormality of the male genitalia	5422	POLA1	ORPHA:163976
HP:0010461	Abnormality of the male genitalia	6875	TAF4B	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	56155	TEX14	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	7516	XRCC2	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	7516	XRCC2	OMIM:619145
HP:0010461	Abnormality of the male genitalia	254528	MEIOB	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	91057	CCDC34	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	317719	KLHL10	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	56159	TEX11	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	1080	CFTR	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	84225	ZMYND15	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	122402	TDRD9	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	93426	SYCE1	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	50511	SYCP3	ORPHA:399805
HP:0010461	Abnormality of the male genitalia	5373	PMM2	ORPHA:79318
HP:0010461	Abnormality of the male genitalia	8242	KDM5C	OMIM:300534
HP:0010461	Abnormality of the male genitalia	8242	KDM5C	ORPHA:85279
HP:0010461	Abnormality of the male genitalia	51360	MBTPS2	ORPHA:85284
HP:0010461	Abnormality of the male genitalia	23133	PHF8	ORPHA:85287
HP:0010461	Abnormality of the male genitalia	55315	SLC29A3	ORPHA:168569
HP:0010461	Abnormality of the male genitalia	10371	SEMA3A	OMIM:614897
HP:0010461	Abnormality of the male genitalia	10371	SEMA3A	ORPHA:478
HP:0010461	Abnormality of the male genitalia	63901	FAM111A	ORPHA:93325
HP:0010461	Abnormality of the male genitalia	23767	FLRT3	ORPHA:478
HP:0010461	Abnormality of the male genitalia	79625	NDNF	ORPHA:478
HP:0010461	Abnormality of the male genitalia	1630	DCC	ORPHA:478
HP:0010461	Abnormality of the male genitalia	54756	IL17RD	ORPHA:478
HP:0010461	Abnormality of the male genitalia	6663	SOX10	ORPHA:478
HP:0010461	Abnormality of the male genitalia	7507	XPA	ORPHA:910
HP:0010461	Abnormality of the male genitalia	2071	ERCC3	ORPHA:910
HP:0010461	Abnormality of the male genitalia	7508	XPC	ORPHA:910
HP:0010461	Abnormality of the male genitalia	1643	DDB2	ORPHA:910
HP:0010461	Abnormality of the male genitalia	2072	ERCC4	ORPHA:910
HP:0010461	Abnormality of the male genitalia	2073	ERCC5	ORPHA:910
HP:0010461	Abnormality of the male genitalia	92840	REEP6	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6094	ROM1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6017	RLBP1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	7401	CLRN1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	24	ABCA4	ORPHA:791
HP:0010461	Abnormality of the male genitalia	130557	ZNF513	ORPHA:791
HP:0010461	Abnormality of the male genitalia	92211	CDHR1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	23568	ARL2BP	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6121	RPE65	ORPHA:791
HP:0010461	Abnormality of the male genitalia	54806	AHI1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6101	RP1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	3419	IDH3A	ORPHA:791
HP:0010461	Abnormality of the male genitalia	4751	NEK2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	346007	EYS	ORPHA:791
HP:0010461	Abnormality of the male genitalia	8100	IFT88	ORPHA:791
HP:0010461	Abnormality of the male genitalia	23020	SNRNP200	ORPHA:791
HP:0010461	Abnormality of the male genitalia	762	CA4	ORPHA:791
HP:0010461	Abnormality of the male genitalia	138050	HGSNAT	ORPHA:791
HP:0010461	Abnormality of the male genitalia	196	AHR	ORPHA:791
HP:0010461	Abnormality of the male genitalia	3614	IMPDH1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	123016	TTC8	ORPHA:791
HP:0010461	Abnormality of the male genitalia	123016	TTC8	ORPHA:110
HP:0010461	Abnormality of the male genitalia	6103	RPGR	ORPHA:791
HP:0010461	Abnormality of the male genitalia	1406	CRX	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5148	PDE6G	ORPHA:791
HP:0010461	Abnormality of the male genitalia	26160	IFT172	ORPHA:791
HP:0010461	Abnormality of the male genitalia	26160	IFT172	ORPHA:110
HP:0010461	Abnormality of the male genitalia	26121	PRPF31	ORPHA:791
HP:0010461	Abnormality of the male genitalia	583	BBS2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	583	BBS2	ORPHA:110
HP:0010461	Abnormality of the male genitalia	4117	MAK	ORPHA:791
HP:0010461	Abnormality of the male genitalia	25794	FSCN2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	375298	CERKL	ORPHA:791
HP:0010461	Abnormality of the male genitalia	3420	IDH3B	ORPHA:791
HP:0010461	Abnormality of the male genitalia	57670	KIAA1549	ORPHA:791
HP:0010461	Abnormality of the male genitalia	7275	TUB	ORPHA:791
HP:0010461	Abnormality of the male genitalia	24148	PRPF6	ORPHA:791
HP:0010461	Abnormality of the male genitalia	23418	CRB1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	10461	MERTK	ORPHA:791
HP:0010461	Abnormality of the male genitalia	57709	SLC7A14	ORPHA:791
HP:0010461	Abnormality of the male genitalia	768206	PRCD	ORPHA:791
HP:0010461	Abnormality of the male genitalia	7399	USH2A	ORPHA:791
HP:0010461	Abnormality of the male genitalia	23370	ARHGEF18	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5949	RBP3	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6010	RHO	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6100	RP9	ORPHA:791
HP:0010461	Abnormality of the male genitalia	10002	NR2E3	ORPHA:791
HP:0010461	Abnormality of the male genitalia	9227	LRAT	ORPHA:791
HP:0010461	Abnormality of the male genitalia	84140	FAM161A	ORPHA:791
HP:0010461	Abnormality of the male genitalia	55812	SPATA7	ORPHA:791
HP:0010461	Abnormality of the male genitalia	55624	POMGNT1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	55624	POMGNT1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	79797	ZNF408	ORPHA:791
HP:0010461	Abnormality of the male genitalia	403	ARL3	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5145	PDE6A	ORPHA:791
HP:0010461	Abnormality of the male genitalia	10210	TOPORS	ORPHA:791
HP:0010461	Abnormality of the male genitalia	8842	PROM1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	9128	PRPF4	ORPHA:791
HP:0010461	Abnormality of the male genitalia	145226	RDH12	ORPHA:791
HP:0010461	Abnormality of the male genitalia	50939	IMPG2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	8481	OFD1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	49855	SCAPER	ORPHA:791
HP:0010461	Abnormality of the male genitalia	49855	SCAPER	ORPHA:110
HP:0010461	Abnormality of the male genitalia	9742	IFT140	ORPHA:791
HP:0010461	Abnormality of the male genitalia	2979	GUCA1B	ORPHA:791
HP:0010461	Abnormality of the male genitalia	1259	CNGA1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	1258	CNGB1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	60509	AGBL5	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5961	PRPH2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	388939	PCARE	ORPHA:791
HP:0010461	Abnormality of the male genitalia	7439	BEST1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	9785	DHX38	ORPHA:791
HP:0010461	Abnormality of the male genitalia	7287	TULP1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5995	RGR	ORPHA:791
HP:0010461	Abnormality of the male genitalia	9129	PRPF3	ORPHA:791
HP:0010461	Abnormality of the male genitalia	55975	KLHL7	ORPHA:791
HP:0010461	Abnormality of the male genitalia	3617	IMPG1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	94137	RP1L1	ORPHA:791
HP:0010461	Abnormality of the male genitalia	5158	PDE6B	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6102	RP2	ORPHA:791
HP:0010461	Abnormality of the male genitalia	55857	KIZ	ORPHA:791
HP:0010461	Abnormality of the male genitalia	64218	SEMA4A	ORPHA:791
HP:0010461	Abnormality of the male genitalia	4901	NRL	ORPHA:791
HP:0010461	Abnormality of the male genitalia	157657	CFAP418	ORPHA:791
HP:0010461	Abnormality of the male genitalia	157657	CFAP418	ORPHA:110
HP:0010461	Abnormality of the male genitalia	10594	PRPF8	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6295	SAG	ORPHA:791
HP:0010461	Abnormality of the male genitalia	79947	DHDDS	ORPHA:791
HP:0010461	Abnormality of the male genitalia	6309	SC5D	ORPHA:46059
HP:0010461	Abnormality of the male genitalia	7518	XRCC4	ORPHA:99812
HP:0010461	Abnormality of the male genitalia	3981	LIG4	ORPHA:99812
HP:0010461	Abnormality of the male genitalia	55777	MBD5	ORPHA:228402
HP:0010461	Abnormality of the male genitalia	79813	EHMT1	ORPHA:96147
HP:0010461	Abnormality of the male genitalia	55112	DYNC2I1	ORPHA:93271
HP:0010461	Abnormality of the male genitalia	57560	IFT80	ORPHA:93271
HP:0010461	Abnormality of the male genitalia	57539	WDR35	ORPHA:93271
HP:0010461	Abnormality of the male genitalia	79659	DYNC2H1	ORPHA:93271
HP:0010461	Abnormality of the male genitalia	89891	DYNC2I2	ORPHA:93271
HP:0010461	Abnormality of the male genitalia	6905	TBCE	ORPHA:2323
HP:0010461	Abnormality of the male genitalia	8085	KMT2D	ORPHA:2322
HP:0010461	Abnormality of the male genitalia	7403	KDM6A	ORPHA:2322
HP:0010461	Abnormality of the male genitalia	129563	DIS3L2	ORPHA:2849
HP:0010461	Abnormality of the male genitalia	84892	POMGNT2	ORPHA:899
HP:0010461	Abnormality of the male genitalia	148789	B3GALNT2	ORPHA:899
HP:0010461	Abnormality of the male genitalia	79147	FKRP	ORPHA:899
HP:0010461	Abnormality of the male genitalia	29954	POMT2	ORPHA:899
HP:0010461	Abnormality of the male genitalia	9215	LARGE1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	1282	COL4A1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	729920	CRPPA	ORPHA:899
HP:0010461	Abnormality of the male genitalia	10329	RXYLT1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	1605	DAG1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	10585	POMT1	ORPHA:899
HP:0010461	Abnormality of the male genitalia	84197	POMK	ORPHA:899
HP:0010461	Abnormality of the male genitalia	2218	FKTN	ORPHA:899
HP:0010461	Abnormality of the male genitalia	28514	DLL1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	6496	SIX3	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	7050	TGIF1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	4838	NODAL	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	6469	SHH	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	51684	SUFU	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	7546	ZIC2	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	2619	GAS1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	84976	DISP1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	8928	FOXH1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	5727	PTCH1	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	50937	CDON	ORPHA:280200
HP:0010461	Abnormality of the male genitalia	50937	CDON	ORPHA:95496
HP:0010461	Abnormality of the male genitalia	6657	SOX2	ORPHA:77298
HP:0010461	Abnormality of the male genitalia	6657	SOX2	ORPHA:3157
HP:0010461	Abnormality of the male genitalia	64359	NXN	ORPHA:1507
HP:0010461	Abnormality of the male genitalia	4920	ROR2	ORPHA:1507
HP:0010461	Abnormality of the male genitalia	8626	TP63	ORPHA:93930
HP:0010461	Abnormality of the male genitalia	3670	ISL1	ORPHA:93930
HP:0010461	Abnormality of the male genitalia	81620	CDT1	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	5000	ORC4	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	8318	CDC45	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	990	CDC6	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	4998	ORC1	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	51053	GMNN	ORPHA:2554
HP:0010461	Abnormality of the male genitalia	197131	UBR1	ORPHA:2315
HP:0010461	Abnormality of the male genitalia	23476	BRD4	ORPHA:199
HP:0010461	Abnormality of the male genitalia	9126	SMC3	ORPHA:199
HP:0010461	Abnormality of the male genitalia	8243	SMC1A	ORPHA:199
HP:0010461	Abnormality of the male genitalia	25836	NIPBL	ORPHA:199
HP:0010461	Abnormality of the male genitalia	5885	RAD21	ORPHA:199
HP:0010461	Abnormality of the male genitalia	92482	BBIP1	ORPHA:110
HP:0010461	Abnormality of the male genitalia	11020	IFT27	ORPHA:110
HP:0010461	Abnormality of the male genitalia	4867	NPHP1	ORPHA:110
HP:0010461	Abnormality of the male genitalia	51057	WDPCP	ORPHA:110
HP:0010461	Abnormality of the male genitalia	27241	BBS9	ORPHA:110
HP:0010461	Abnormality of the male genitalia	84984	CEP19	ORPHA:110
HP:0010461	Abnormality of the male genitalia	22954	TRIM32	ORPHA:110
HP:0010461	Abnormality of the male genitalia	79738	BBS10	ORPHA:110
HP:0010461	Abnormality of the male genitalia	585	BBS4	ORPHA:110
HP:0010461	Abnormality of the male genitalia	54585	LZTFL1	ORPHA:110
HP:0010461	Abnormality of the male genitalia	55212	BBS7	ORPHA:110
HP:0010461	Abnormality of the male genitalia	166379	BBS12	ORPHA:110
HP:0010461	Abnormality of the male genitalia	10806	SDCCAG8	ORPHA:110
HP:0010461	Abnormality of the male genitalia	129880	BBS5	ORPHA:110
HP:0010461	Abnormality of the male genitalia	80173	IFT74	ORPHA:110
HP:0010461	Abnormality of the male genitalia	5396	PRRX1	ORPHA:990
HP:0010461	Abnormality of the male genitalia	23347	SMCHD1	ORPHA:2250
HP:0010461	Abnormality of the male genitalia	5048	PAFAH1B1	ORPHA:217385
HP:0010461	Abnormality of the male genitalia	7531	YWHAE	ORPHA:217385
HP:0010461	Abnormality of the male genitalia	6804	STX1A	ORPHA:904
HP:0010461	Abnormality of the male genitalia	7461	CLIP2	ORPHA:904
HP:0010461	Abnormality of the male genitalia	84277	DNAJC30	ORPHA:904
HP:0010461	Abnormality of the male genitalia	8468	FKBP6	ORPHA:904
HP:0010461	Abnormality of the male genitalia	5982	RFC2	ORPHA:904
HP:0010461	Abnormality of the male genitalia	2969	GTF2I	ORPHA:904
HP:0010461	Abnormality of the male genitalia	3984	LIMK1	ORPHA:904
HP:0010461	Abnormality of the male genitalia	9569	GTF2IRD1	ORPHA:904
HP:0010461	Abnormality of the male genitalia	155382	VPS37D	ORPHA:904
HP:0010461	Abnormality of the male genitalia	155368	METTL27	ORPHA:904
HP:0010461	Abnormality of the male genitalia	114049	BUD23	ORPHA:904
HP:0010461	Abnormality of the male genitalia	7458	EIF4H	ORPHA:904
HP:0010461	Abnormality of the male genitalia	84163	GTF2IRD2	ORPHA:904
HP:0010461	Abnormality of the male genitalia	9275	BCL7B	ORPHA:904
HP:0010461	Abnormality of the male genitalia	26608	TBL2	ORPHA:904
HP:0010461	Abnormality of the male genitalia	653361	NCF1	ORPHA:904
HP:0010461	Abnormality of the male genitalia	135886	TMEM270	ORPHA:904
HP:0010461	Abnormality of the male genitalia	51085	MLXIPL	ORPHA:904
HP:0010461	Abnormality of the male genitalia	9031	BAZ1B	ORPHA:904
HP:0010461	Abnormality of the male genitalia	2006	ELN	ORPHA:904
HP:0010461	Abnormality of the male genitalia	5590	PRKCZ	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	2563	GABRD	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	23013	SPEN	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	8510	MMP23B	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	7798	LUZP1	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	6497	SKI	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	10630	PDPN	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	10277	UBE4B	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	8514	KCNAB2	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	473	RERE	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	63976	PRDM16	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	54897	CASZ1	ORPHA:1606
HP:0010461	Abnormality of the male genitalia	286	ANK1	ORPHA:251066
HP:0010461	Abnormality of the male genitalia	6091	ROBO1	ORPHA:95496
HP:0010461	Abnormality of the male genitalia	23432	GPR161	ORPHA:95496
HP:0010461	Abnormality of the male genitalia	6299	SALL1	ORPHA:857
HP:0010461	Abnormality of the male genitalia	51339	DACT1	ORPHA:857
HP:0010461	Abnormality of the male genitalia	2239	GPC4	ORPHA:373
HP:0010461	Abnormality of the male genitalia	2719	GPC3	ORPHA:373
HP:0010461	Abnormality of the male genitalia	1968	EIF2S3	ORPHA:85282
HP:0010461	Abnormality of the male genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0010461	Abnormality of the male genitalia	3239	HOXD13	ORPHA:887
HP:0010461	Abnormality of the male genitalia	117581	TWIST2	ORPHA:920
HP:0010461	Abnormality of the male genitalia	64324	NSD1	ORPHA:3447
HP:0010461	Abnormality of the male genitalia	8726	EED	ORPHA:3447
HP:0010461	Abnormality of the male genitalia	23512	SUZ12	ORPHA:3447
HP:0010461	Abnormality of the male genitalia	2146	EZH2	ORPHA:3447
HP:0010461	Abnormality of the male genitalia	9897	WASHC5	ORPHA:7
HP:0010461	Abnormality of the male genitalia	28952	CCDC22	ORPHA:7
HP:0010461	Abnormality of the male genitalia	9915	ARNT2	ORPHA:3157
HP:0010461	Abnormality of the male genitalia	2690	GHR	ORPHA:633
HP:0010461	Abnormality of the male genitalia	10606	PAICS	OMIM:619859
HP:0010461	Abnormality of the male genitalia	50945	TBX22	ORPHA:921
HP:0010461	Abnormality of the male genitalia	4665	NAB2	ORPHA:2126
HP:0010461	Abnormality of the male genitalia	6778	STAT6	ORPHA:2126
HP:0010461	Abnormality of the male genitalia	50846	DHH	OMIM:233420
HP:0010461	Abnormality of the male genitalia	1387	CREBBP	OMIM:180849
HP:0010461	Abnormality of the male genitalia	2033	EP300	OMIM:180849
HP:0010461	Abnormality of the male genitalia	7428	VHL	ORPHA:892
HP:0010461	Abnormality of the male genitalia	7428	VHL	OMIM:193300
HP:0010461	Abnormality of the male genitalia	595	CCND1	ORPHA:892
HP:0010461	Abnormality of the male genitalia	595	CCND1	OMIM:193300
HP:0010461	Abnormality of the male genitalia	7486	WRN	ORPHA:902
HP:0010461	Abnormality of the male genitalia	392255	GDF6	OMIM:613094
HP:0010461	Abnormality of the male genitalia	79577	CDC73	ORPHA:143
HP:0010461	Abnormality of the male genitalia	79577	CDC73	ORPHA:99880
HP:0010461	Abnormality of the male genitalia	284058	KANSL1	ORPHA:363965
HP:0010461	Abnormality of the male genitalia	284058	KANSL1	ORPHA:363958
HP:0010461	Abnormality of the male genitalia	2130	EWSR1	ORPHA:83469
HP:0010461	Abnormality of the male genitalia	5566	PRKACA	ORPHA:189439
HP:0010461	Abnormality of the male genitalia	8622	PDE8B	ORPHA:189439
HP:0010461	Abnormality of the male genitalia	5573	PRKAR1A	ORPHA:189439
HP:0010461	Abnormality of the male genitalia	5573	PRKAR1A	ORPHA:1359
HP:0010461	Abnormality of the male genitalia	50940	PDE11A	ORPHA:189439
HP:0010461	Abnormality of the male genitalia	50940	PDE11A	ORPHA:1359
HP:0010461	Abnormality of the male genitalia	412	STS	OMIM:308100
HP:0010461	Abnormality of the male genitalia	367	AR	ORPHA:99429
HP:0010461	Abnormality of the male genitalia	1027	CDKN1B	ORPHA:276152
HP:0010461	Abnormality of the male genitalia	7157	TP53	ORPHA:524
HP:0010461	Abnormality of the male genitalia	1029	CDKN2A	ORPHA:524
HP:0010461	Abnormality of the male genitalia	4193	MDM2	ORPHA:524
HP:0010461	Abnormality of the male genitalia	11200	CHEK2	ORPHA:524
HP:0010461	Abnormality of the male genitalia	6611	SMS	ORPHA:3063
HP:0010461	Abnormality of the male genitalia	2778	GNAS	ORPHA:562
HP:0010461	Abnormality of the male genitalia	2488	FSHB	ORPHA:52901
HP:0010461	Abnormality of the male genitalia	5892	RAD51D	ORPHA:145
HP:0010461	Abnormality of the male genitalia	10111	RAD50	ORPHA:145
HP:0010461	Abnormality of the male genitalia	580	BARD1	ORPHA:145
HP:0010461	Abnormality of the male genitalia	4683	NBN	ORPHA:145
HP:0010461	Abnormality of the male genitalia	4361	MRE11	ORPHA:145
HP:0010461	Abnormality of the male genitalia	2048	EPHB2	OMIM:603688
HP:0010461	Abnormality of the male genitalia	463	ZFHX3	OMIM:176807
HP:0010461	Abnormality of the male genitalia	1316	KLF6	OMIM:176807
HP:0010461	Abnormality of the male genitalia	999	CDH1	OMIM:176807
HP:0010461	Abnormality of the male genitalia	4601	MXI1	OMIM:176807
HP:0010461	Abnormality of the male genitalia	8379	MAD1L1	OMIM:176807
HP:0010461	Abnormality of the male genitalia	54894	RNF43	ORPHA:157798
HP:0010461	Abnormality of the male genitalia	6041	RNASEL	OMIM:601518
HP:0010461	Abnormality of the male genitalia	26585	GREM1	ORPHA:157794
HP:0010461	Abnormality of the male genitalia	657	BMPR1A	ORPHA:157794
HP:0010461	Abnormality of the male genitalia	2304	FOXE1	OMIM:616534
HP:0010461	Abnormality of the male genitalia	4913	NTHL1	OMIM:616415
HP:0010461	Abnormality of the male genitalia	324	APC	ORPHA:79665
HP:0010461	Abnormality of the male genitalia	7373	COL14A1	ORPHA:79501
HP:0010461	Abnormality of the male genitalia	79719	AAGAB	ORPHA:79501
HP:0010461	Abnormality of the male genitalia	10568	SLC34A2	ORPHA:60025
HP:0010461	Abnormality of the male genitalia	3972	LHB	OMIM:228300
HP:0010461	Abnormality of the male genitalia	51574	LARP7	OMIM:615071
HP:0010461	Abnormality of the male genitalia	6904	TBCD	OMIM:617193
HP:0010461	Abnormality of the male genitalia	64132	XYLT2	OMIM:605822
HP:0010461	Abnormality of the male genitalia	745	MYRF	OMIM:618280
HP:0010461	Abnormality of the male genitalia	4784	NFIX	ORPHA:447980
HP:0010461	Abnormality of the male genitalia	104	ADARB1	OMIM:618862
HP:0010461	Abnormality of the male genitalia	90121	TSR2	OMIM:300946
HP:0010461	Abnormality of the male genitalia	4781	NFIB	OMIM:618286
HP:0010461	Abnormality of the male genitalia	51111	KMT5B	OMIM:617788
HP:0010461	Abnormality of the male genitalia	3481	IGF2	OMIM:616489
HP:0010461	Abnormality of the male genitalia	83479	DDX59	OMIM:174300
HP:0010461	Abnormality of the male genitalia	6736	SRY	ORPHA:1772
HP:0010461	Abnormality of the male genitalia	84282	RNF135	ORPHA:137634
HP:0010461	Abnormality of the male genitalia	64093	SMOC1	OMIM:206920
HP:0010461	Abnormality of the male genitalia	25942	SIN3A	OMIM:613406
HP:0010461	Abnormality of the male genitalia	3640	INSL3	OMIM:219050
HP:0010461	Abnormality of the male genitalia	3284	HSD3B2	OMIM:201810
HP:0010461	Abnormality of the male genitalia	1528	CYB5A	OMIM:250790
HP:0010461	Abnormality of the male genitalia	1583	CYP11A1	ORPHA:289548
HP:0010461	Abnormality of the male genitalia	1583	CYP11A1	ORPHA:168558
HP:0010461	Abnormality of the male genitalia	56983	POGLUT1	ORPHA:79145
HP:0010461	Abnormality of the male genitalia	3852	KRT5	ORPHA:79145
HP:0010461	Abnormality of the male genitalia	23509	POFUT1	ORPHA:79145
HP:0010461	Abnormality of the male genitalia	55851	PSENEN	ORPHA:79145
HP:0010461	Abnormality of the male genitalia	114034	TOE1	ORPHA:284339
HP:0010461	Abnormality of the male genitalia	9562	MINPP1	ORPHA:284339
HP:0010461	Abnormality of the male genitalia	7840	ALMS1	ORPHA:64
HP:0010461	Abnormality of the male genitalia	57647	DHX37	OMIM:273250
HP:0010461	Abnormality of the male genitalia	57647	DHX37	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	6662	SOX9	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	6845	VAMP7	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	51741	WWOX	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	4214	MAP3K1	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	2516	NR5A1	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	7490	WT1	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	58524	DMRT3	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	23414	ZFPM2	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	190	NR0B1	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	2626	GATA4	ORPHA:251510
HP:0010461	Abnormality of the male genitalia	207	AKT1	OMIM:615109
HP:0010461	Abnormality of the male genitalia	5728	PTEN	OMIM:158350
HP:0010461	Abnormality of the male genitalia	10847	SRCAP	ORPHA:2044
HP:0010461	Abnormality of the male genitalia	10847	SRCAP	OMIM:136140
HP:0010461	Abnormality of the male genitalia	10149	ADGRG2	ORPHA:48
HP:0010461	Abnormality of the male genitalia	10149	ADGRG2	OMIM:300985
HP:0010461	Abnormality of the male genitalia	2947	GSTM3	ORPHA:586
HP:0010461	Abnormality of the male genitalia	7040	TGFB1	ORPHA:586
HP:0010461	Abnormality of the male genitalia	2729	GCLC	ORPHA:586
HP:0010461	Abnormality of the male genitalia	1084	CEACAM3	ORPHA:586
HP:0010461	Abnormality of the male genitalia	6556	SLC11A1	ORPHA:586
HP:0010461	Abnormality of the male genitalia	51164	DCTN4	ORPHA:586
HP:0010461	Abnormality of the male genitalia	3783	KCNN4	ORPHA:586
HP:0010461	Abnormality of the male genitalia	4282	MIF	ORPHA:586
HP:0010461	Abnormality of the male genitalia	1909	EDNRA	ORPHA:586
HP:0010461	Abnormality of the male genitalia	6550	SLC9A3	ORPHA:586
HP:0010461	Abnormality of the male genitalia	3162	HMOX1	ORPHA:586
HP:0010461	Abnormality of the male genitalia	115019	SLC26A9	ORPHA:586
HP:0010461	Abnormality of the male genitalia	3077	HFE	ORPHA:586
HP:0010461	Abnormality of the male genitalia	11254	SLC6A14	ORPHA:586
HP:0010461	Abnormality of the male genitalia	5265	SERPINA1	ORPHA:586
HP:0010461	Abnormality of the male genitalia	22802	CLCA4	ORPHA:586
HP:0010461	Abnormality of the male genitalia	4680	CEACAM6	ORPHA:586
HP:0010461	Abnormality of the male genitalia	56246	MRAP	ORPHA:361
HP:0010461	Abnormality of the male genitalia	6770	STAR	ORPHA:361
HP:0010461	Abnormality of the male genitalia	4158	MC2R	ORPHA:361
HP:0010461	Abnormality of the male genitalia	23530	NNT	ORPHA:361
HP:0010461	Abnormality of the male genitalia	10587	TXNRD2	ORPHA:361
HP:0010461	Abnormality of the male genitalia	2188	FANCF	OMIM:603467
HP:0010461	Abnormality of the male genitalia	54809	SAMD9	OMIM:617053
HP:0010461	Abnormality of the male genitalia	57187	THOC2	OMIM:300957
HP:0010461	Abnormality of the male genitalia	6870	TACR3	OMIM:614840
HP:0010461	Abnormality of the male genitalia	25914	RTTN	ORPHA:468631
HP:0010461	Abnormality of the male genitalia	26123	TCTN3	ORPHA:2753
HP:0010461	Abnormality of the male genitalia	6928	HNF1B	OMIM:137920
HP:0010461	Abnormality of the male genitalia	161742	SPRED1	ORPHA:137605
HP:0010461	Abnormality of the male genitalia	5792	PTPRF	OMIM:616001
HP:0010461	Abnormality of the male genitalia	9075	CLDN2	OMIM:301060
HP:0010461	Abnormality of the male genitalia	402381	SOHLH1	OMIM:618115
HP:0010461	Abnormality of the male genitalia	125150	ZSWIM7	OMIM:619831
HP:0010461	Abnormality of the male genitalia	9817	KEAP1	ORPHA:276399
HP:0010461	Abnormality of the male genitalia	23405	DICER1	ORPHA:276399
HP:0010461	Abnormality of the male genitalia	80169	CTC1	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	26277	TINF2	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	55651	NHP2	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	79650	USB1	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	55135	WRAP53	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	51750	RTEL1	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	4869	NPM1	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	7012	TERC	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	55505	NOP10	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	5073	PARN	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	7015	TERT	ORPHA:1775
HP:0010461	Abnormality of the male genitalia	627	BDNF	ORPHA:893
HP:0010461	Abnormality of the male genitalia	79827	CLMP	ORPHA:2301
HP:0010461	Abnormality of the male genitalia	2767	GNA11	ORPHA:1556
HP:0010461	Abnormality of the male genitalia	151188	ARL6IP6	ORPHA:1556
HP:0010461	Abnormality of the male genitalia	4210	MEFV	ORPHA:342
HP:0010461	Abnormality of the male genitalia	4210	MEFV	OMIM:249100
HP:0010461	Abnormality of the male genitalia	4210	MEFV	ORPHA:117
HP:0010461	Abnormality of the male genitalia	7132	TNFRSF1A	ORPHA:32960
HP:0010461	Abnormality of the male genitalia	149233	IL23R	ORPHA:117
HP:0010461	Abnormality of the male genitalia	6775	STAT4	ORPHA:117
HP:0010461	Abnormality of the male genitalia	3586	IL10	ORPHA:117
HP:0010461	Abnormality of the male genitalia	1230	CCR1	ORPHA:117
HP:0010461	Abnormality of the male genitalia	355	FAS	ORPHA:117
HP:0010461	Abnormality of the male genitalia	3592	IL12A	ORPHA:117
HP:0010461	Abnormality of the male genitalia	101928376	IL12A-AS1	ORPHA:117
HP:0010461	Abnormality of the male genitalia	3106	HLA-B	ORPHA:117
HP:0010461	Abnormality of the male genitalia	7099	TLR4	ORPHA:117
HP:0010461	Abnormality of the male genitalia	3459	IFNGR1	ORPHA:117
HP:0010461	Abnormality of the male genitalia	720	C4A	ORPHA:117
HP:0010461	Abnormality of the male genitalia	337867	UBAC2	ORPHA:117
HP:0010461	Abnormality of the male genitalia	51752	ERAP1	ORPHA:117
HP:0010461	Abnormality of the male genitalia	8302	KLRC4	ORPHA:117
HP:0010461	Abnormality of the male genitalia	11285	B4GALT7	ORPHA:75496
HP:0010461	Abnormality of the male genitalia	3339	HSPG2	ORPHA:800
HP:0010461	Abnormality of the male genitalia	2313	FLI1	ORPHA:370348
HP:0010460	Abnormality of the female genitalia	5566	PRKACA	ORPHA:289
HP:0010460	Abnormality of the female genitalia	5567	PRKACB	ORPHA:289
HP:0010460	Abnormality of the female genitalia	2735	GLI1	ORPHA:289
HP:0010460	Abnormality of the female genitalia	2121	EVC	ORPHA:289
HP:0010460	Abnormality of the female genitalia	51626	DYNC2LI1	ORPHA:289
HP:0010460	Abnormality of the female genitalia	132884	EVC2	ORPHA:289
HP:0010460	Abnormality of the female genitalia	6911	TBX6	ORPHA:1797
HP:0010460	Abnormality of the female genitalia	80169	CTC1	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	26277	TINF2	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	55651	NHP2	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	79650	USB1	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	55135	WRAP53	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	51750	RTEL1	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	4869	NPM1	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	7012	TERC	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	55505	NOP10	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	5073	PARN	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	7015	TERT	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	1736	DKC1	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	7298	TYMS	ORPHA:1775
HP:0010460	Abnormality of the female genitalia	7852	CXCR4	OMIM:193670
HP:0010460	Abnormality of the female genitalia	134701	RIPPLY2	ORPHA:2311
HP:0010460	Abnormality of the female genitalia	10683	DLL3	ORPHA:2311
HP:0010460	Abnormality of the female genitalia	3955	LFNG	ORPHA:2311
HP:0010460	Abnormality of the female genitalia	84667	HES7	ORPHA:2311
HP:0010460	Abnormality of the female genitalia	145873	MESP2	ORPHA:2311
HP:0010460	Abnormality of the female genitalia	7248	TSC1	ORPHA:538
HP:0010460	Abnormality of the female genitalia	7249	TSC2	ORPHA:538
HP:0010460	Abnormality of the female genitalia	5979	RET	ORPHA:1848
HP:0010460	Abnormality of the female genitalia	8516	ITGA8	ORPHA:1848
HP:0010460	Abnormality of the female genitalia	26281	FGF20	ORPHA:1848
HP:0010460	Abnormality of the female genitalia	2674	GFRA1	ORPHA:1848
HP:0010460	Abnormality of the female genitalia	7484	WNT9B	ORPHA:1848
HP:0010460	Abnormality of the female genitalia	9723	SEMA3E	ORPHA:138
HP:0010460	Abnormality of the female genitalia	10371	SEMA3A	ORPHA:478
HP:0010460	Abnormality of the female genitalia	23767	FLRT3	ORPHA:478
HP:0010460	Abnormality of the female genitalia	79625	NDNF	ORPHA:478
HP:0010460	Abnormality of the female genitalia	389549	FEZF1	ORPHA:478
HP:0010460	Abnormality of the female genitalia	1630	DCC	ORPHA:478
HP:0010460	Abnormality of the female genitalia	3730	ANOS1	ORPHA:478
HP:0010460	Abnormality of the female genitalia	54756	IL17RD	ORPHA:478
HP:0010460	Abnormality of the female genitalia	6663	SOX10	ORPHA:478
HP:0010460	Abnormality of the female genitalia	285025	CCDC141	ORPHA:478
HP:0010460	Abnormality of the female genitalia	8820	HESX1	ORPHA:478
HP:0010460	Abnormality of the female genitalia	5573	PRKAR1A	ORPHA:1359
HP:0010460	Abnormality of the female genitalia	50940	PDE11A	ORPHA:1359
HP:0010460	Abnormality of the female genitalia	3239	HOXD13	ORPHA:887
HP:0010460	Abnormality of the female genitalia	668	FOXL2	OMIM:110100
HP:0010460	Abnormality of the female genitalia	668	FOXL2	ORPHA:572333
HP:0010460	Abnormality of the female genitalia	668	FOXL2	OMIM:608996
HP:0010460	Abnormality of the female genitalia	128	ADH5	OMIM:619151
HP:0010460	Abnormality of the female genitalia	2260	FGFR1	ORPHA:432
HP:0010460	Abnormality of the female genitalia	81848	SPRY4	ORPHA:432
HP:0010460	Abnormality of the female genitalia	128674	PROKR2	ORPHA:432
HP:0010460	Abnormality of the female genitalia	2253	FGF8	ORPHA:432
HP:0010460	Abnormality of the female genitalia	60675	PROK2	ORPHA:432
HP:0010460	Abnormality of the female genitalia	55636	CHD7	ORPHA:432
HP:0010460	Abnormality of the female genitalia	6870	TACR3	ORPHA:432
HP:0010460	Abnormality of the female genitalia	1848	DUSP6	ORPHA:432
HP:0010460	Abnormality of the female genitalia	26012	NSMF	ORPHA:432
HP:0010460	Abnormality of the female genitalia	55717	WDR11	ORPHA:432
HP:0010460	Abnormality of the female genitalia	9394	HS6ST1	ORPHA:432
HP:0010460	Abnormality of the female genitalia	2796	GNRH1	ORPHA:432
HP:0010460	Abnormality of the female genitalia	2796	GNRH1	OMIM:614841
HP:0010460	Abnormality of the female genitalia	2798	GNRHR	ORPHA:432
HP:0010460	Abnormality of the female genitalia	84634	KISS1R	ORPHA:432
HP:0010460	Abnormality of the female genitalia	84634	KISS1R	OMIM:614837
HP:0010460	Abnormality of the female genitalia	6866	TAC3	ORPHA:432
HP:0010460	Abnormality of the female genitalia	8822	FGF17	ORPHA:432
HP:0010460	Abnormality of the female genitalia	3814	KISS1	ORPHA:432
HP:0010460	Abnormality of the female genitalia	3814	KISS1	OMIM:614842
HP:0010460	Abnormality of the female genitalia	402381	SOHLH1	OMIM:617690
HP:0010460	Abnormality of the female genitalia	9210	BMP15	OMIM:300510
HP:0010460	Abnormality of the female genitalia	1349	COX7B	OMIM:309801
HP:0010460	Abnormality of the female genitalia	3052	HCCS	OMIM:309801
HP:0010460	Abnormality of the female genitalia	54539	NDUFB11	OMIM:309801
HP:0010460	Abnormality of the female genitalia	145173	B3GLCT	OMIM:261540
HP:0010460	Abnormality of the female genitalia	145173	B3GLCT	ORPHA:709
HP:0010460	Abnormality of the female genitalia	54361	WNT4	ORPHA:247768
HP:0010460	Abnormality of the female genitalia	2516	NR5A1	OMIM:612964
HP:0010460	Abnormality of the female genitalia	2516	NR5A1	OMIM:612965
HP:0010460	Abnormality of the female genitalia	80067	DCAF17	ORPHA:3464
HP:0010460	Abnormality of the female genitalia	80067	DCAF17	OMIM:241080
HP:0010460	Abnormality of the female genitalia	64220	STRA6	OMIM:601186
HP:0010460	Abnormality of the female genitalia	2099	ESR1	ORPHA:785
HP:0010460	Abnormality of the female genitalia	2099	ESR1	OMIM:615363
HP:0010460	Abnormality of the female genitalia	317761	C14orf39	OMIM:619203
HP:0010460	Abnormality of the female genitalia	1584	CYP11B1	OMIM:202010
HP:0010460	Abnormality of the female genitalia	3664	IRF6	OMIM:119500
HP:0010460	Abnormality of the female genitalia	57122	NUP107	OMIM:618078
HP:0010460	Abnormality of the female genitalia	1528	CYB5A	ORPHA:90796
HP:0010460	Abnormality of the female genitalia	1586	CYP17A1	ORPHA:90796
HP:0010460	Abnormality of the female genitalia	9928	KIF14	OMIM:616258
HP:0010460	Abnormality of the female genitalia	9928	KIF14	OMIM:617914
HP:0010460	Abnormality of the female genitalia	56945	MRPS22	OMIM:618117
HP:0010460	Abnormality of the female genitalia	6928	HNF1B	OMIM:137920
HP:0010460	Abnormality of the female genitalia	8192	CLPP	OMIM:614129
HP:0010460	Abnormality of the female genitalia	658	BMPR1B	OMIM:609441
HP:0010460	Abnormality of the female genitalia	23514	SPIDR	OMIM:619665
HP:0010460	Abnormality of the female genitalia	26284	ERAL1	OMIM:617565
HP:0010460	Abnormality of the female genitalia	4439	MSH5	OMIM:617442
HP:0010460	Abnormality of the female genitalia	51199	NIN	OMIM:614851
HP:0010460	Abnormality of the female genitalia	23395	LARS2	OMIM:615300
HP:0010460	Abnormality of the female genitalia	55012	PPP2R3C	OMIM:618419
HP:0010460	Abnormality of the female genitalia	344018	FIGLA	OMIM:612310
HP:0010460	Abnormality of the female genitalia	6664	SOX11	OMIM:615866
HP:0010460	Abnormality of the female genitalia	50846	DHH	OMIM:233420
HP:0010460	Abnormality of the female genitalia	50846	DHH	ORPHA:168563
HP:0010460	Abnormality of the female genitalia	3981	LIG4	ORPHA:235
HP:0010460	Abnormality of the female genitalia	54888	NSUN2	ORPHA:235
HP:0010460	Abnormality of the female genitalia	5144	PDE4D	ORPHA:950
HP:0010460	Abnormality of the female genitalia	84733	CBX2	OMIM:613080
HP:0010460	Abnormality of the female genitalia	5116	PCNT	ORPHA:2637
HP:0010460	Abnormality of the female genitalia	5590	PRKCZ	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	2563	GABRD	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	23013	SPEN	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	8510	MMP23B	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	7798	LUZP1	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	6497	SKI	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	10630	PDPN	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	3339	HSPG2	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	10277	UBE4B	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	8514	KCNAB2	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	473	RERE	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	63976	PRDM16	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	54897	CASZ1	ORPHA:1606
HP:0010460	Abnormality of the female genitalia	6888	TALDO1	ORPHA:101028
HP:0010460	Abnormality of the female genitalia	3670	ISL1	ORPHA:93930
HP:0010460	Abnormality of the female genitalia	10664	CTCF	ORPHA:363611
HP:0010460	Abnormality of the female genitalia	2100	ESR2	OMIM:618187
HP:0010460	Abnormality of the female genitalia	29957	SLC25A24	OMIM:612289
HP:0010460	Abnormality of the female genitalia	8626	TP63	OMIM:129400
HP:0010460	Abnormality of the female genitalia	23347	SMCHD1	OMIM:603457
HP:0010460	Abnormality of the female genitalia	9896	FIG4	ORPHA:3472
HP:0010460	Abnormality of the female genitalia	55697	VAC14	ORPHA:3472
HP:0010460	Abnormality of the female genitalia	54101	RIPK4	OMIM:263650
HP:0010460	Abnormality of the female genitalia	89910	UBE3B	OMIM:244450
HP:0010460	Abnormality of the female genitalia	9427	ECEL1	OMIM:615065
HP:0010460	Abnormality of the female genitalia	4920	ROR2	OMIM:268310
HP:0010460	Abnormality of the female genitalia	25886	POC1A	OMIM:614813
HP:0010460	Abnormality of the female genitalia	1718	DHCR24	OMIM:602398
HP:0010460	Abnormality of the female genitalia	7148	TNXB	OMIM:606408
HP:0010460	Abnormality of the female genitalia	6913	TBX15	OMIM:260660
HP:0010460	Abnormality of the female genitalia	3284	HSD3B2	ORPHA:90791
HP:0010460	Abnormality of the female genitalia	1588	CYP19A1	ORPHA:91
HP:0010460	Abnormality of the female genitalia	471	ATIC	ORPHA:250977
HP:0010460	Abnormality of the female genitalia	471	ATIC	OMIM:608688
HP:0010460	Abnormality of the female genitalia	2263	FGFR2	OMIM:207410
HP:0010460	Abnormality of the female genitalia	6638	SNRPN	ORPHA:177904
HP:0010460	Abnormality of the female genitalia	6638	SNRPN	ORPHA:177901
HP:0010460	Abnormality of the female genitalia	6638	SNRPN	ORPHA:98754
HP:0010460	Abnormality of the female genitalia	4692	NDN	ORPHA:177904
HP:0010460	Abnormality of the female genitalia	4692	NDN	ORPHA:177901
HP:0010460	Abnormality of the female genitalia	4692	NDN	ORPHA:98754
HP:0010460	Abnormality of the female genitalia	54551	MAGEL2	ORPHA:177904
HP:0010460	Abnormality of the female genitalia	54551	MAGEL2	ORPHA:177901
HP:0010460	Abnormality of the female genitalia	54551	MAGEL2	ORPHA:398069
HP:0010460	Abnormality of the female genitalia	54551	MAGEL2	OMIM:176270
HP:0010460	Abnormality of the female genitalia	54551	MAGEL2	ORPHA:98754
HP:0010460	Abnormality of the female genitalia	4948	OCA2	ORPHA:177904
HP:0010460	Abnormality of the female genitalia	4948	OCA2	ORPHA:177901
HP:0010460	Abnormality of the female genitalia	4948	OCA2	ORPHA:98754
HP:0010460	Abnormality of the female genitalia	2571	GAD1	OMIM:619124
HP:0010460	Abnormality of the female genitalia	4998	ORC1	OMIM:224690
HP:0010460	Abnormality of the female genitalia	4998	ORC1	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	1857	DVL3	ORPHA:3107
HP:0010460	Abnormality of the female genitalia	7474	WNT5A	ORPHA:3107
HP:0010460	Abnormality of the female genitalia	1855	DVL1	ORPHA:3107
HP:0010460	Abnormality of the female genitalia	22931	RAB18	OMIM:614222
HP:0010460	Abnormality of the female genitalia	22931	RAB18	ORPHA:2510
HP:0010460	Abnormality of the female genitalia	117581	TWIST2	OMIM:209885
HP:0010460	Abnormality of the female genitalia	6492	SIM1	ORPHA:398079
HP:0010460	Abnormality of the female genitalia	60	ACTB	ORPHA:64755
HP:0010460	Abnormality of the female genitalia	26040	SETBP1	OMIM:269150
HP:0010460	Abnormality of the female genitalia	23594	ORC6	OMIM:613803
HP:0010460	Abnormality of the female genitalia	23594	ORC6	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	81620	CDT1	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	8318	CDC45	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	990	CDC6	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	51053	GMNN	ORPHA:2554
HP:0010460	Abnormality of the female genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0010460	Abnormality of the female genitalia	25782	RAB3GAP2	ORPHA:2510
HP:0010460	Abnormality of the female genitalia	128637	TBC1D20	ORPHA:2510
HP:0010460	Abnormality of the female genitalia	7681	MKRN3	OMIM:176270
HP:0010460	Abnormality of the female genitalia	3653	IPW	OMIM:176270
HP:0010460	Abnormality of the female genitalia	791114	PWRN1	OMIM:176270
HP:0010460	Abnormality of the female genitalia	100033413	SNORD116-1	OMIM:176270
HP:0010460	Abnormality of the female genitalia	8924	HERC2	OMIM:176270
HP:0010460	Abnormality of the female genitalia	145624	PWAR1	OMIM:176270
HP:0010460	Abnormality of the female genitalia	23742	NPAP1	OMIM:176270
HP:0010460	Abnormality of the female genitalia	338433	SNORD115-1	OMIM:176270
HP:0010460	Abnormality of the female genitalia	3643	INSR	ORPHA:508
HP:0010460	Abnormality of the female genitalia	57061	HYMAI	ORPHA:96191
HP:0010460	Abnormality of the female genitalia	5325	PLAGL1	ORPHA:96191
HP:0010460	Abnormality of the female genitalia	26580	BSCL2	OMIM:269700
HP:0010460	Abnormality of the female genitalia	10555	AGPAT2	OMIM:608594
HP:0010460	Abnormality of the female genitalia	10236	HNRNPR	OMIM:620073
HP:0010460	Abnormality of the female genitalia	6595	SMARCA2	OMIM:619293
HP:0010460	Abnormality of the female genitalia	64840	PORCN	OMIM:305600
HP:0010460	Abnormality of the female genitalia	92002	CCNQ	ORPHA:140952
HP:0010460	Abnormality of the female genitalia	92002	CCNQ	OMIM:300707
HP:0010460	Abnormality of the female genitalia	23522	KAT6B	OMIM:606170
HP:0010460	Abnormality of the female genitalia	5000	ORC4	OMIM:613800
HP:0010460	Abnormality of the female genitalia	23476	BRD4	ORPHA:199
HP:0010460	Abnormality of the female genitalia	9126	SMC3	ORPHA:199
HP:0010460	Abnormality of the female genitalia	8243	SMC1A	ORPHA:199
HP:0010460	Abnormality of the female genitalia	25836	NIPBL	ORPHA:199
HP:0010460	Abnormality of the female genitalia	55869	HDAC8	ORPHA:199
HP:0010460	Abnormality of the female genitalia	5885	RAD21	ORPHA:199
HP:0010460	Abnormality of the female genitalia	5915	RARB	ORPHA:2470
HP:0010460	Abnormality of the female genitalia	6662	SOX9	ORPHA:2138
HP:0010460	Abnormality of the female genitalia	6736	SRY	ORPHA:2138
HP:0010460	Abnormality of the female genitalia	672	BRCA1	ORPHA:84
HP:0010460	Abnormality of the female genitalia	10459	MAD2L2	ORPHA:84
HP:0010460	Abnormality of the female genitalia	7516	XRCC2	ORPHA:84
HP:0010460	Abnormality of the female genitalia	29089	UBE2T	ORPHA:84
HP:0010460	Abnormality of the female genitalia	675	BRCA2	ORPHA:84
HP:0010460	Abnormality of the female genitalia	55120	FANCL	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2177	FANCD2	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2175	FANCA	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2187	FANCB	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2176	FANCC	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2178	FANCE	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2188	FANCF	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2189	FANCG	ORPHA:84
HP:0010460	Abnormality of the female genitalia	5888	RAD51	ORPHA:84
HP:0010460	Abnormality of the female genitalia	5889	RAD51C	ORPHA:84
HP:0010460	Abnormality of the female genitalia	55159	RFWD3	ORPHA:84
HP:0010460	Abnormality of the female genitalia	83990	BRIP1	ORPHA:84
HP:0010460	Abnormality of the female genitalia	57697	FANCM	ORPHA:84
HP:0010460	Abnormality of the female genitalia	79728	PALB2	ORPHA:84
HP:0010460	Abnormality of the female genitalia	84464	SLX4	ORPHA:84
HP:0010460	Abnormality of the female genitalia	2072	ERCC4	ORPHA:84
HP:0010460	Abnormality of the female genitalia	55215	FANCI	ORPHA:84
HP:0010460	Abnormality of the female genitalia	1131	CHRM3	ORPHA:2970
HP:0010460	Abnormality of the female genitalia	1312	COMT	ORPHA:567
HP:0010460	Abnormality of the female genitalia	221037	JMJD1C	ORPHA:567
HP:0010460	Abnormality of the female genitalia	2812	GP1BB	ORPHA:567
HP:0010460	Abnormality of the female genitalia	6239	RREB1	ORPHA:567
HP:0010460	Abnormality of the female genitalia	6899	TBX1	ORPHA:567
HP:0010460	Abnormality of the female genitalia	7290	HIRA	ORPHA:567
HP:0010460	Abnormality of the female genitalia	9632	SEC24C	ORPHA:567
HP:0010460	Abnormality of the female genitalia	7353	UFD1	ORPHA:567
HP:0010460	Abnormality of the female genitalia	421	ARVCF	ORPHA:567
HP:0010460	Abnormality of the female genitalia	10262	SF3B4	ORPHA:1788
HP:0010460	Abnormality of the female genitalia	10483	SEC23B	ORPHA:201
HP:0010460	Abnormality of the female genitalia	5728	PTEN	ORPHA:201
HP:0010460	Abnormality of the female genitalia	6390	SDHB	ORPHA:201
HP:0010460	Abnormality of the female genitalia	6392	SDHD	ORPHA:201
HP:0010460	Abnormality of the female genitalia	6391	SDHC	ORPHA:201
HP:0010460	Abnormality of the female genitalia	207	AKT1	ORPHA:201
HP:0010460	Abnormality of the female genitalia	205717	USF3	ORPHA:201
HP:0010460	Abnormality of the female genitalia	5290	PIK3CA	ORPHA:201
HP:0010460	Abnormality of the female genitalia	100144748	KLLN	ORPHA:201
HP:0010460	Abnormality of the female genitalia	54903	MKS1	OMIM:249000
HP:0010460	Abnormality of the female genitalia	4036	LRP2	ORPHA:2143
HP:0010460	Abnormality of the female genitalia	6299	SALL1	ORPHA:857
HP:0010460	Abnormality of the female genitalia	51339	DACT1	ORPHA:857
HP:0010460	Abnormality of the female genitalia	80000	GREB1L	OMIM:617805
HP:0010460	Abnormality of the female genitalia	5080	PAX6	OMIM:194072
HP:0010460	Abnormality of the female genitalia	6926	TBX3	ORPHA:3138
HP:0010460	Abnormality of the female genitalia	79577	CDC73	ORPHA:143
HP:0010460	Abnormality of the female genitalia	79577	CDC73	ORPHA:99880
HP:0010460	Abnormality of the female genitalia	2261	FGFR3	OMIM:616482
HP:0010460	Abnormality of the female genitalia	4437	MSH3	ORPHA:480536
HP:0010460	Abnormality of the female genitalia	4437	MSH3	OMIM:617100
HP:0010460	Abnormality of the female genitalia	26227	PHGDH	OMIM:256520
HP:0010460	Abnormality of the female genitalia	4609	MYC	ORPHA:543
HP:0010460	Abnormality of the female genitalia	79140	CCDC28B	OMIM:209900
HP:0010460	Abnormality of the female genitalia	5295	PIK3R1	OMIM:269880
HP:0010460	Abnormality of the female genitalia	4913	NTHL1	ORPHA:454840
HP:0010460	Abnormality of the female genitalia	55503	TRPV6	OMIM:618188
HP:0010460	Abnormality of the female genitalia	2155	F7	ORPHA:327
HP:0010460	Abnormality of the female genitalia	2778	GNAS	ORPHA:562
HP:0010460	Abnormality of the female genitalia	3972	LHB	OMIM:228300
HP:0010460	Abnormality of the female genitalia	8481	OFD1	OMIM:311200
HP:0010460	Abnormality of the female genitalia	6197	RPS6KA3	OMIM:303600
HP:0010460	Abnormality of the female genitalia	2006	ELN	OMIM:123700
HP:0010460	Abnormality of the female genitalia	341640	FREM2	ORPHA:2052
HP:0010460	Abnormality of the female genitalia	80144	FRAS1	ORPHA:2052
HP:0010460	Abnormality of the female genitalia	23426	GRIP1	ORPHA:2052
HP:0010460	Abnormality of the female genitalia	84818	IL17RC	ORPHA:1334
HP:0010460	Abnormality of the female genitalia	64581	CLEC7A	ORPHA:1334
HP:0010460	Abnormality of the female genitalia	23765	IL17RA	ORPHA:1334
HP:0010460	Abnormality of the female genitalia	10758	TRAF3IP2	ORPHA:1334
HP:0010460	Abnormality of the female genitalia	112744	IL17F	ORPHA:1334
HP:0010460	Abnormality of the female genitalia	219844	HYLS1	OMIM:236680
HP:0010460	Abnormality of the female genitalia	9361	LONP1	OMIM:600373
HP:0010460	Abnormality of the female genitalia	57167	SALL4	OMIM:147750
HP:0010460	Abnormality of the female genitalia	57167	SALL4	ORPHA:2307
HP:0010460	Abnormality of the female genitalia	3588	IL10RB	OMIM:612567
HP:0010460	Abnormality of the female genitalia	26123	TCTN3	ORPHA:2753
HP:0010460	Abnormality of the female genitalia	10653	SPINT2	OMIM:270420
HP:0010460	Abnormality of the female genitalia	84172	POLR1B	ORPHA:861
HP:0010460	Abnormality of the female genitalia	9533	POLR1C	ORPHA:861
HP:0010460	Abnormality of the female genitalia	51082	POLR1D	ORPHA:861
HP:0010460	Abnormality of the female genitalia	6949	TCOF1	ORPHA:861
HP:0010460	Abnormality of the female genitalia	9401	RECQL4	OMIM:218600
HP:0010460	Abnormality of the female genitalia	267010	RNU12	OMIM:603116
HP:0010460	Abnormality of the female genitalia	374654	KIF7	OMIM:200990
HP:0010460	Abnormality of the female genitalia	1642	DDB1	OMIM:619426
HP:0010460	Abnormality of the female genitalia	3718	JAK3	ORPHA:35078
HP:0010460	Abnormality of the female genitalia	158326	FREM1	OMIM:608980
HP:0010460	Abnormality of the female genitalia	5297	PI4KA	OMIM:619708
HP:0010460	Abnormality of the female genitalia	7840	ALMS1	ORPHA:64
HP:0010460	Abnormality of the female genitalia	6658	SOX3	ORPHA:393
HP:0010460	Abnormality of the female genitalia	4519	MT-CYB	ORPHA:137675
HP:0010460	Abnormality of the female genitalia	2321	FLT1	ORPHA:275555
HP:0010460	Abnormality of the female genitalia	219736	STOX1	ORPHA:275555
HP:0010460	Abnormality of the female genitalia	10699	CORIN	ORPHA:275555
HP:0010460	Abnormality of the female genitalia	6804	STX1A	ORPHA:904
HP:0010460	Abnormality of the female genitalia	7461	CLIP2	ORPHA:904
HP:0010460	Abnormality of the female genitalia	84277	DNAJC30	ORPHA:904
HP:0010460	Abnormality of the female genitalia	8468	FKBP6	ORPHA:904
HP:0010460	Abnormality of the female genitalia	5982	RFC2	ORPHA:904
HP:0010460	Abnormality of the female genitalia	2969	GTF2I	ORPHA:904
HP:0010460	Abnormality of the female genitalia	3984	LIMK1	ORPHA:904
HP:0010460	Abnormality of the female genitalia	9569	GTF2IRD1	ORPHA:904
HP:0010460	Abnormality of the female genitalia	155382	VPS37D	ORPHA:904
HP:0010460	Abnormality of the female genitalia	155368	METTL27	ORPHA:904
HP:0010460	Abnormality of the female genitalia	114049	BUD23	ORPHA:904
HP:0010460	Abnormality of the female genitalia	7458	EIF4H	ORPHA:904
HP:0010460	Abnormality of the female genitalia	84163	GTF2IRD2	ORPHA:904
HP:0010460	Abnormality of the female genitalia	9275	BCL7B	ORPHA:904
HP:0010460	Abnormality of the female genitalia	26608	TBL2	ORPHA:904
HP:0010460	Abnormality of the female genitalia	653361	NCF1	ORPHA:904
HP:0010460	Abnormality of the female genitalia	135886	TMEM270	ORPHA:904
HP:0010460	Abnormality of the female genitalia	51085	MLXIPL	ORPHA:904
HP:0010460	Abnormality of the female genitalia	9031	BAZ1B	ORPHA:904
HP:0010460	Abnormality of the female genitalia	118429	ANTXR2	ORPHA:2176
HP:0010460	Abnormality of the female genitalia	472	ATM	ORPHA:100
HP:0010460	Abnormality of the female genitalia	5346	PLIN1	ORPHA:280356
HP:0010460	Abnormality of the female genitalia	63924	CIDEC	ORPHA:435651
HP:0010460	Abnormality of the female genitalia	6927	HNF1A	OMIM:142330
HP:0010460	Abnormality of the female genitalia	2542	SLC37A4	ORPHA:79259
HP:0010460	Abnormality of the female genitalia	208	AKT2	ORPHA:79085
HP:0010460	Abnormality of the female genitalia	5257	PHKB	ORPHA:79240
HP:0010460	Abnormality of the female genitalia	4313	MMP2	ORPHA:371428
HP:0010460	Abnormality of the female genitalia	4323	MMP14	ORPHA:371428
HP:0010460	Abnormality of the female genitalia	1761	DMRT1	ORPHA:242
HP:0010460	Abnormality of the female genitalia	5256	PHKA2	ORPHA:264580
HP:0010460	Abnormality of the female genitalia	5261	PHKG2	ORPHA:264580
HP:0010460	Abnormality of the female genitalia	24145	PANX1	ORPHA:488191
HP:0010460	Abnormality of the female genitalia	494551	WEE2	ORPHA:488191
HP:0010460	Abnormality of the female genitalia	197135	PATL2	ORPHA:488191
HP:0010460	Abnormality of the female genitalia	347688	TUBB8	ORPHA:488191
HP:0010460	Abnormality of the female genitalia	84823	LMNB2	OMIM:608709
HP:0010460	Abnormality of the female genitalia	29072	SETD2	OMIM:616831
HP:0010460	Abnormality of the female genitalia	4487	MSX1	ORPHA:2228
HP:0010460	Abnormality of the female genitalia	340419	RSPO2	ORPHA:3301
HP:0010460	Abnormality of the female genitalia	745	MYRF	OMIM:618280
HP:0010460	Abnormality of the female genitalia	57492	ARID1B	OMIM:135900
HP:0010460	Abnormality of the female genitalia	7476	WNT7A	ORPHA:2879
HP:0010460	Abnormality of the female genitalia	7476	WNT7A	OMIM:276820
HP:0010460	Abnormality of the female genitalia	79770	TXNDC15	OMIM:619879
HP:0010460	Abnormality of the female genitalia	9939	RBM8A	ORPHA:3320
HP:0010460	Abnormality of the female genitalia	9939	RBM8A	OMIM:274000
HP:0010460	Abnormality of the female genitalia	114034	TOE1	ORPHA:284339
HP:0010460	Abnormality of the female genitalia	9562	MINPP1	ORPHA:284339
HP:0010460	Abnormality of the female genitalia	53834	FGFRL1	OMIM:194190
HP:0010460	Abnormality of the female genitalia	1487	CTBP1	OMIM:194190
HP:0010460	Abnormality of the female genitalia	3954	LETM1	OMIM:194190
HP:0010460	Abnormality of the female genitalia	7468	NSD2	OMIM:194190
HP:0010460	Abnormality of the female genitalia	10815	CPLX1	OMIM:194190
HP:0010460	Abnormality of the female genitalia	2294	FOXF1	OMIM:265380
HP:0010460	Abnormality of the female genitalia	23556	PIGN	ORPHA:2059
HP:0010460	Abnormality of the female genitalia	4281	MID1	ORPHA:2745
HP:0010460	Abnormality of the female genitalia	23384	SPECC1L	OMIM:145420
HP:0010460	Abnormality of the female genitalia	2255	FGF10	ORPHA:2363
HP:0010460	Abnormality of the female genitalia	9839	ZEB2	ORPHA:261537
HP:0010460	Abnormality of the female genitalia	9839	ZEB2	ORPHA:261552
HP:0010460	Abnormality of the female genitalia	1717	DHCR7	OMIM:270400
HP:0010460	Abnormality of the female genitalia	197131	UBR1	OMIM:243800
HP:0010460	Abnormality of the female genitalia	54880	BCOR	OMIM:300166
HP:0010460	Abnormality of the female genitalia	3110	MNX1	OMIM:176450
HP:0010460	Abnormality of the female genitalia	8195	MKKS	OMIM:236700
HP:0010460	Abnormality of the female genitalia	7355	SLC35A2	OMIM:300896
HP:0010460	Abnormality of the female genitalia	6714	SRC	OMIM:114500
HP:0010460	Abnormality of the female genitalia	201163	FLCN	OMIM:114500
HP:0010460	Abnormality of the female genitalia	10395	DLC1	OMIM:114500
HP:0010460	Abnormality of the female genitalia	11200	CHEK2	OMIM:114500
HP:0010460	Abnormality of the female genitalia	8313	AXIN2	OMIM:114500
HP:0010460	Abnormality of the female genitalia	2033	EP300	OMIM:114500
HP:0010460	Abnormality of the female genitalia	5782	PTPN12	OMIM:114500
HP:0010460	Abnormality of the female genitalia	5320	PLA2G2A	OMIM:114500
HP:0010460	Abnormality of the female genitalia	6790	AURKA	OMIM:114500
HP:0010460	Abnormality of the female genitalia	27030	MLH3	OMIM:114500
HP:0010460	Abnormality of the female genitalia	581	BAX	OMIM:114500
HP:0010460	Abnormality of the female genitalia	25788	RAD54B	OMIM:114500
HP:0010460	Abnormality of the female genitalia	595	CCND1	OMIM:114500
HP:0010460	Abnormality of the female genitalia	7097	TLR2	OMIM:114500
HP:0010460	Abnormality of the female genitalia	4893	NRAS	OMIM:114500
HP:0010460	Abnormality of the female genitalia	324	APC	OMIM:114500
HP:0010460	Abnormality of the female genitalia	1499	CTNNB1	OMIM:114500
HP:0010460	Abnormality of the female genitalia	7157	TP53	OMIM:114500
HP:0010460	Abnormality of the female genitalia	4163	MCC	OMIM:114500
HP:0010460	Abnormality of the female genitalia	5157	PDGFRL	OMIM:114500
HP:0010460	Abnormality of the female genitalia	5795	PTPRJ	OMIM:114500
HP:0010460	Abnormality of the female genitalia	673	BRAF	OMIM:114500
HP:0010460	Abnormality of the female genitalia	5518	PPP2R1A	ORPHA:457284
HP:0010460	Abnormality of the female genitalia	5077	PAX3	OMIM:193500
HP:0010460	Abnormality of the female genitalia	2535	FZD2	OMIM:164745
HP:0010460	Abnormality of the female genitalia	8312	AXIN1	OMIM:607864
HP:0010460	Abnormality of the female genitalia	55112	DYNC2I1	ORPHA:93271
HP:0010460	Abnormality of the female genitalia	57560	IFT80	ORPHA:93271
HP:0010460	Abnormality of the female genitalia	57539	WDR35	ORPHA:93271
HP:0010460	Abnormality of the female genitalia	79659	DYNC2H1	ORPHA:93271
HP:0010460	Abnormality of the female genitalia	89891	DYNC2I2	ORPHA:93271
HP:0010460	Abnormality of the female genitalia	2625	GATA3	ORPHA:2237
HP:0010460	Abnormality of the female genitalia	2625	GATA3	OMIM:146255
HP:0010460	Abnormality of the female genitalia	4659	PPP1R12A	OMIM:618820
HP:0010460	Abnormality of the female genitalia	27152	INTU	OMIM:617925
HP:0010460	Abnormality of the female genitalia	3209	HOXA13	OMIM:140000
HP:0010460	Abnormality of the female genitalia	7490	WT1	OMIM:194080
HP:0010460	Abnormality of the female genitalia	6650	CAPN15	OMIM:619318
HP:0010460	Abnormality of the female genitalia	367	AR	ORPHA:99429
HP:0010460	Abnormality of the female genitalia	5828	PEX2	OMIM:614866
HP:0010460	Abnormality of the female genitalia	5828	PEX2	ORPHA:912
HP:0010460	Abnormality of the female genitalia	81857	MED25	OMIM:616449
HP:0010460	Abnormality of the female genitalia	5830	PEX5	OMIM:214110
HP:0010460	Abnormality of the female genitalia	5830	PEX5	ORPHA:912
HP:0010460	Abnormality of the female genitalia	2232	FDXR	ORPHA:543470
HP:0010460	Abnormality of the female genitalia	10293	TRAIP	OMIM:616777
HP:0010460	Abnormality of the female genitalia	22995	CEP152	OMIM:613823
HP:0010460	Abnormality of the female genitalia	5189	PEX1	OMIM:214100
HP:0010460	Abnormality of the female genitalia	5189	PEX1	ORPHA:912
HP:0010460	Abnormality of the female genitalia	284654	RSPO1	OMIM:610644
HP:0010460	Abnormality of the female genitalia	5468	PPARG	ORPHA:528
HP:0010460	Abnormality of the female genitalia	284119	CAVIN1	ORPHA:528
HP:0010460	Abnormality of the female genitalia	2353	FOS	ORPHA:528
HP:0010460	Abnormality of the female genitalia	857	CAV1	ORPHA:528
HP:0010460	Abnormality of the female genitalia	545	ATR	OMIM:210600
HP:0010460	Abnormality of the female genitalia	55670	PEX26	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5824	PEX19	ORPHA:912
HP:0010460	Abnormality of the female genitalia	8504	PEX3	ORPHA:912
HP:0010460	Abnormality of the female genitalia	8799	PEX11B	ORPHA:912
HP:0010460	Abnormality of the female genitalia	9409	PEX16	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5190	PEX6	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5193	PEX12	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5194	PEX13	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5195	PEX14	ORPHA:912
HP:0010460	Abnormality of the female genitalia	5192	PEX10	ORPHA:912
HP:0010460	Abnormality of the female genitalia	157570	ESCO2	OMIM:268300
HP:0010460	Abnormality of the female genitalia	29893	PSMC3IP	ORPHA:243
HP:0010460	Abnormality of the female genitalia	171568	POLR3H	ORPHA:243
HP:0010460	Abnormality of the female genitalia	125150	ZSWIM7	ORPHA:243
HP:0010460	Abnormality of the female genitalia	2492	FSHR	ORPHA:243
HP:0010460	Abnormality of the female genitalia	646	BNC1	ORPHA:243
HP:0010460	Abnormality of the female genitalia	7473	WNT3	OMIM:273395
HP:0010460	Abnormality of the female genitalia	79796	ALG9	ORPHA:79328
HP:0010460	Abnormality of the female genitalia	92482	BBIP1	ORPHA:110
HP:0010460	Abnormality of the female genitalia	80184	CEP290	ORPHA:110
HP:0010460	Abnormality of the female genitalia	11020	IFT27	ORPHA:110
HP:0010460	Abnormality of the female genitalia	582	BBS1	ORPHA:110
HP:0010460	Abnormality of the female genitalia	49855	SCAPER	ORPHA:110
HP:0010460	Abnormality of the female genitalia	4867	NPHP1	ORPHA:110
HP:0010460	Abnormality of the female genitalia	51057	WDPCP	ORPHA:110
HP:0010460	Abnormality of the female genitalia	27241	BBS9	ORPHA:110
HP:0010460	Abnormality of the female genitalia	84984	CEP19	ORPHA:110
HP:0010460	Abnormality of the female genitalia	22954	TRIM32	ORPHA:110
HP:0010460	Abnormality of the female genitalia	79738	BBS10	ORPHA:110
HP:0010460	Abnormality of the female genitalia	123016	TTC8	ORPHA:110
HP:0010460	Abnormality of the female genitalia	26160	IFT172	ORPHA:110
HP:0010460	Abnormality of the female genitalia	583	BBS2	ORPHA:110
HP:0010460	Abnormality of the female genitalia	585	BBS4	ORPHA:110
HP:0010460	Abnormality of the female genitalia	54585	LZTFL1	ORPHA:110
HP:0010460	Abnormality of the female genitalia	55212	BBS7	ORPHA:110
HP:0010460	Abnormality of the female genitalia	10806	SDCCAG8	ORPHA:110
HP:0010460	Abnormality of the female genitalia	157657	CFAP418	ORPHA:110
HP:0010460	Abnormality of the female genitalia	84100	ARL6	ORPHA:110
HP:0010460	Abnormality of the female genitalia	129880	BBS5	ORPHA:110
HP:0010460	Abnormality of the female genitalia	80173	IFT74	ORPHA:110
HP:0010460	Abnormality of the female genitalia	5781	PTPN11	OMIM:151100
HP:0010460	Abnormality of the female genitalia	8882	ZPR1	OMIM:619321
HP:0010460	Abnormality of the female genitalia	164045	HFM1	OMIM:615724
HP:0010460	Abnormality of the female genitalia	84515	MCM8	OMIM:612885
HP:0010460	Abnormality of the female genitalia	3953	LEPR	ORPHA:179494
HP:0010460	Abnormality of the female genitalia	3952	LEP	ORPHA:66628
HP:0010460	Abnormality of the female genitalia	135935	NOBOX	OMIM:611548
HP:0010460	Abnormality of the female genitalia	1146	CHRNG	OMIM:265000
HP:0010460	Abnormality of the female genitalia	1146	CHRNG	ORPHA:2990
HP:0010460	Abnormality of the female genitalia	4621	MYH3	ORPHA:2990
HP:0010460	Abnormality of the female genitalia	4000	LMNA	OMIM:151660
HP:0010460	Abnormality of the female genitalia	10225	CD96	ORPHA:1308
HP:0010460	Abnormality of the female genitalia	2908	NR3C1	ORPHA:786
HP:0010460	Abnormality of the female genitalia	23438	HARS2	OMIM:614926
HP:0010460	Abnormality of the female genitalia	64218	SEMA4A	ORPHA:440437
HP:0010460	Abnormality of the female genitalia	657	BMPR1A	ORPHA:440437
HP:0010460	Abnormality of the female genitalia	6224	RPS20	ORPHA:440437
HP:0010460	Abnormality of the female genitalia	2313	FLI1	ORPHA:370348
HP:0010460	Abnormality of the female genitalia	388662	SLC6A17	ORPHA:457212
HP:0010460	Abnormality of the female genitalia	5424	POLD1	OMIM:612591
HP:0010460	Abnormality of the female genitalia	5424	POLD1	ORPHA:447877
HP:0010460	Abnormality of the female genitalia	26585	GREM1	ORPHA:157794
HP:0010460	Abnormality of the female genitalia	5426	POLE	ORPHA:447877
HP:0010460	Abnormality of the female genitalia	64359	NXN	ORPHA:1507
HP:0010460	Abnormality of the female genitalia	7841	MOGS	OMIM:606056
HP:0010460	Abnormality of the female genitalia	5881	RAC3	OMIM:618577
HP:0010460	Abnormality of the female genitalia	3991	LIPE	ORPHA:435660
HP:0010460	Abnormality of the female genitalia	5373	PMM2	ORPHA:79318
HP:0010460	Abnormality of the female genitalia	5618	PRLR	ORPHA:397685
HP:0010460	Abnormality of the female genitalia	285282	RABL3	ORPHA:1333
HP:0010460	Abnormality of the female genitalia	4089	SMAD4	ORPHA:1333
HP:0010460	Abnormality of the female genitalia	23022	PALLD	ORPHA:1333
HP:0010460	Abnormality of the female genitalia	5727	PTCH1	OMIM:109400
HP:0010460	Abnormality of the female genitalia	1294	COL7A1	ORPHA:79409
HP:0010460	Abnormality of the female genitalia	1277	COL1A1	ORPHA:287
HP:0010460	Abnormality of the female genitalia	1289	COL5A1	ORPHA:287
HP:0010460	Abnormality of the female genitalia	1290	COL5A2	ORPHA:287
HP:0010460	Abnormality of the female genitalia	2737	GLI3	ORPHA:672
HP:0010460	Abnormality of the female genitalia	166379	BBS12	OMIM:615989
HP:0010460	Abnormality of the female genitalia	57514	ARHGAP31	OMIM:100300
HP:0010460	Abnormality of the female genitalia	7750	ZMYM2	OMIM:619522
HP:0010460	Abnormality of the female genitalia	6794	STK11	ORPHA:2869
HP:0010460	Abnormality of the female genitalia	1027	CDKN1B	ORPHA:276152
HP:0010460	Abnormality of the female genitalia	79228	THOC6	ORPHA:363444
HP:0010460	Abnormality of the female genitalia	79228	THOC6	OMIM:613680
HP:0010460	Abnormality of the female genitalia	5340	PLG	ORPHA:722
HP:0010460	Abnormality of the female genitalia	23405	DICER1	OMIM:180295
HP:0010460	Abnormality of the female genitalia	2783	GNB2	OMIM:619503
HP:0010460	Abnormality of the female genitalia	8930	MBD4	OMIM:619975
HP:0010460	Abnormality of the female genitalia	2624	GATA2	OMIM:614172
HP:0010460	Abnormality of the female genitalia	5970	RELA	OMIM:618287
HP:0010460	Abnormality of the female genitalia	5447	POR	ORPHA:95699
HP:0010460	Abnormality of the female genitalia	10046	MAMLD1	ORPHA:456328
HP:0010460	Abnormality of the female genitalia	4534	MTM1	ORPHA:456328
HP:0010460	Abnormality of the female genitalia	4292	MLH1	OMIM:158320
HP:0010460	Abnormality of the female genitalia	4292	MLH1	ORPHA:144
HP:0010460	Abnormality of the female genitalia	4436	MSH2	OMIM:158320
HP:0010460	Abnormality of the female genitalia	4436	MSH2	ORPHA:144
HP:0010460	Abnormality of the female genitalia	54894	RNF43	ORPHA:157798
HP:0010460	Abnormality of the female genitalia	7486	WRN	ORPHA:902
HP:0010460	Abnormality of the female genitalia	1029	CDKN2A	ORPHA:524
HP:0010460	Abnormality of the female genitalia	4193	MDM2	ORPHA:524
HP:0010460	Abnormality of the female genitalia	5892	RAD51D	ORPHA:145
HP:0010460	Abnormality of the female genitalia	10111	RAD50	ORPHA:145
HP:0010460	Abnormality of the female genitalia	580	BARD1	ORPHA:145
HP:0010460	Abnormality of the female genitalia	4683	NBN	ORPHA:145
HP:0010460	Abnormality of the female genitalia	4361	MRE11	ORPHA:145
HP:0010460	Abnormality of the female genitalia	4072	EPCAM	ORPHA:144
HP:0010460	Abnormality of the female genitalia	5395	PMS2	ORPHA:144
HP:0010460	Abnormality of the female genitalia	5395	PMS2	OMIM:614337
HP:0010460	Abnormality of the female genitalia	22909	FAN1	ORPHA:144
HP:0010460	Abnormality of the female genitalia	3845	KRAS	ORPHA:144
HP:0010460	Abnormality of the female genitalia	2956	MSH6	ORPHA:144
HP:0010460	Abnormality of the female genitalia	2956	MSH6	OMIM:614350
HP:0010460	Abnormality of the female genitalia	5378	PMS1	ORPHA:144
HP:0010460	Abnormality of the female genitalia	80326	WNT10A	ORPHA:50944
HP:0010460	Abnormality of the female genitalia	2130	EWSR1	ORPHA:83469
HP:0010460	Abnormality of the female genitalia	2304	FOXE1	OMIM:616534
HP:0010460	Abnormality of the female genitalia	65998	ZFTA	ORPHA:251636
HP:0010460	Abnormality of the female genitalia	3418	IDH2	ORPHA:163634
HP:0010460	Abnormality of the female genitalia	3417	IDH1	ORPHA:163634
HP:0010460	Abnormality of the female genitalia	10734	STAG3	OMIM:615723
HP:0010460	Abnormality of the female genitalia	161742	SPRED1	ORPHA:137605
HP:0010460	Abnormality of the female genitalia	9817	KEAP1	ORPHA:276399
HP:0010460	Abnormality of the female genitalia	999	CDH1	OMIM:167000
HP:0010460	Abnormality of the female genitalia	5071	PRKN	OMIM:167000
HP:0010460	Abnormality of the female genitalia	4978	OPCML	OMIM:167000
HP:0010460	Abnormality of the female genitalia	2064	ERBB2	OMIM:167000
HP:0010460	Abnormality of the female genitalia	1281	COL3A1	OMIM:130050
HP:0010460	Abnormality of the female genitalia	1281	COL3A1	ORPHA:286
HP:0010460	Abnormality of the female genitalia	4088	SMAD3	OMIM:613795
HP:0010460	Abnormality of the female genitalia	4665	NAB2	ORPHA:2126
HP:0010460	Abnormality of the female genitalia	6778	STAT6	ORPHA:2126
HP:0010460	Abnormality of the female genitalia	9184	BUB3	ORPHA:1052
HP:0010460	Abnormality of the female genitalia	699	BUB1	ORPHA:1052
HP:0010460	Abnormality of the female genitalia	9702	CEP57	ORPHA:1052
HP:0010460	Abnormality of the female genitalia	9319	TRIP13	ORPHA:1052
HP:0010460	Abnormality of the female genitalia	701	BUB1B	ORPHA:1052
HP:0010460	Abnormality of the female genitalia	2271	FH	ORPHA:523
HP:0010460	Abnormality of the female genitalia	1288	COL4A6	ORPHA:1018
HP:0010460	Abnormality of the female genitalia	1287	COL4A5	ORPHA:1018
HP:0010460	Abnormality of the female genitalia	7046	TGFBR1	ORPHA:60030
HP:0010460	Abnormality of the female genitalia	10526	IPO8	ORPHA:60030
HP:0010460	Abnormality of the female genitalia	7048	TGFBR2	ORPHA:60030
HP:0010460	Abnormality of the female genitalia	4693	NDP	ORPHA:649
HP:0010460	Abnormality of the female genitalia	1583	CYP11A1	ORPHA:289548
HP:0010460	Abnormality of the female genitalia	1583	CYP11A1	ORPHA:168558
HP:0010460	Abnormality of the female genitalia	7026	NR2F2	OMIM:618901
HP:0010460	Abnormality of the female genitalia	57647	DHX37	OMIM:273250
HP:0010460	Abnormality of the female genitalia	57647	DHX37	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	6845	VAMP7	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	51741	WWOX	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	4214	MAP3K1	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	58524	DMRT3	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	23414	ZFPM2	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	190	NR0B1	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	2626	GATA4	ORPHA:251510
HP:0010460	Abnormality of the female genitalia	6716	SRD5A2	ORPHA:753
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309271
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309263
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309256
HP:0030890	Hyperintensity of cerebral white matter on MRI	1267	CNP	OMIM:619071
HP:0030890	Hyperintensity of cerebral white matter on MRI	2760	GM2A	ORPHA:309246
HP:0030890	Hyperintensity of cerebral white matter on MRI	84504	NKX6-2	ORPHA:527497
HP:0030890	Hyperintensity of cerebral white matter on MRI	23516	SLC39A14	OMIM:617013
HP:0030890	Hyperintensity of cerebral white matter on MRI	23516	SLC39A14	ORPHA:521406
HP:0030890	Hyperintensity of cerebral white matter on MRI	1387	CREBBP	OMIM:180849
HP:0030890	Hyperintensity of cerebral white matter on MRI	2033	EP300	OMIM:180849
HP:0030890	Hyperintensity of cerebral white matter on MRI	1593	CYP27A1	ORPHA:909
HP:0030890	Hyperintensity of cerebral white matter on MRI	79853	TM4SF20	OMIM:615432
HP:0030890	Hyperintensity of cerebral white matter on MRI	85365	ALG2	ORPHA:79326
HP:0030890	Hyperintensity of cerebral white matter on MRI	1822	ATN1	ORPHA:101
HP:0030890	Hyperintensity of cerebral white matter on MRI	7343	UBTF	ORPHA:500180
HP:0030890	Hyperintensity of cerebral white matter on MRI	7343	UBTF	OMIM:617672
HP:0030890	Hyperintensity of cerebral white matter on MRI	51112	TRAPPC12	ORPHA:500144
HP:0030890	Hyperintensity of cerebral white matter on MRI	221496	LEMD2	OMIM:619322
HP:0030890	Hyperintensity of cerebral white matter on MRI	1436	CSF1R	OMIM:618476
HP:0030890	Hyperintensity of cerebral white matter on MRI	5917	RARS1	ORPHA:438114
HP:0030890	Hyperintensity of cerebral white matter on MRI	1806	DPYD	ORPHA:1675
HP:0030890	Hyperintensity of cerebral white matter on MRI	4953	ODC1	ORPHA:544488
HP:0030890	Hyperintensity of cerebral white matter on MRI	5660	PSAP	OMIM:611722
HP:0030890	Hyperintensity of cerebral white matter on MRI	5290	PIK3CA	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	2475	MTOR	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	10000	AKT3	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	84340	GFM2	ORPHA:565624
HP:0030890	Hyperintensity of cerebral white matter on MRI	1282	COL4A1	OMIM:618564
HP:0030890	Hyperintensity of cerebral white matter on MRI	8913	CACNA1G	ORPHA:458803
HP:0030890	Hyperintensity of cerebral white matter on MRI	63899	NSUN3	OMIM:619012
HP:0030890	Hyperintensity of cerebral white matter on MRI	91869	RFT1	ORPHA:244310
HP:0030890	Hyperintensity of cerebral white matter on MRI	6572	SLC18A3	OMIM:617239
HP:0030890	Hyperintensity of cerebral white matter on MRI	815	CAMK2A	OMIM:617798
HP:0030890	Hyperintensity of cerebral white matter on MRI	29920	PYCR2	ORPHA:481152
HP:0030890	Hyperintensity of cerebral white matter on MRI	2055	CLN8	ORPHA:1947
HP:0030890	Hyperintensity of cerebral white matter on MRI	6821	SUOX	OMIM:272300
HP:0030890	Hyperintensity of cerebral white matter on MRI	2583	B4GALNT1	ORPHA:101006
HP:0030890	Hyperintensity of cerebral white matter on MRI	9420	CYP7B1	OMIM:270800
HP:0030890	Hyperintensity of cerebral white matter on MRI	191	AHCY	ORPHA:88618
HP:0030890	Hyperintensity of cerebral white matter on MRI	6390	SDHB	OMIM:619224
HP:0030890	Hyperintensity of cerebral white matter on MRI	80208	SPG11	ORPHA:2822
HP:0030890	Hyperintensity of cerebral white matter on MRI	55154	MSTO1	ORPHA:502423
HP:0030890	Hyperintensity of cerebral white matter on MRI	4001	LMNB1	ORPHA:99027
HP:0030890	Hyperintensity of cerebral white matter on MRI	5297	PI4KA	OMIM:619708
HP:0030890	Hyperintensity of cerebral white matter on MRI	1203	CLN5	ORPHA:228360
HP:0030890	Hyperintensity of cerebral white matter on MRI	51324	SPG21	OMIM:248900
HP:0030890	Hyperintensity of cerebral white matter on MRI	84065	TMEM222	OMIM:619470
HP:0030890	Hyperintensity of cerebral white matter on MRI	7555	CNBP	OMIM:602668
HP:0030890	Hyperintensity of cerebral white matter on MRI	6134	RPL10	OMIM:300998
HP:0030890	Hyperintensity of cerebral white matter on MRI	5058	PAK1	OMIM:618158
HP:0030890	Hyperintensity of cerebral white matter on MRI	4761	NEUROD2	OMIM:618374
HP:0030890	Hyperintensity of cerebral white matter on MRI	23259	DDHD2	OMIM:615033
HP:0030890	Hyperintensity of cerebral white matter on MRI	23259	DDHD2	ORPHA:320380
HP:0030890	Hyperintensity of cerebral white matter on MRI	22866	CNKSR2	OMIM:301008
HP:0030890	Hyperintensity of cerebral white matter on MRI	9692	PRORP	OMIM:619737
HP:0030890	Hyperintensity of cerebral white matter on MRI	92335	STRADA	ORPHA:500533
HP:0030890	Hyperintensity of cerebral white matter on MRI	51412	ACTL6B	OMIM:618468
HP:0030890	Hyperintensity of cerebral white matter on MRI	25974	MMACHC	ORPHA:79282
HP:0030890	Hyperintensity of cerebral white matter on MRI	2783	GNB2	OMIM:619503
HP:0030890	Hyperintensity of cerebral white matter on MRI	7920	ABHD16A	OMIM:619735
HP:0030890	Hyperintensity of cerebral white matter on MRI	25782	RAB3GAP2	OMIM:212720
HP:0030890	Hyperintensity of cerebral white matter on MRI	85465	SELENOI	OMIM:618768
HP:0030890	Hyperintensity of cerebral white matter on MRI	59	ACTA2	OMIM:613834
HP:0030890	Hyperintensity of cerebral white matter on MRI	9907	AP5Z1	OMIM:613647
HP:0030890	Hyperintensity of cerebral white matter on MRI	80036	TRPM3	OMIM:620224
HP:0030890	Hyperintensity of cerebral white matter on MRI	10060	ABCC9	OMIM:619719
HP:0030890	Hyperintensity of cerebral white matter on MRI	5654	HTRA1	ORPHA:199354
HP:0030890	Hyperintensity of cerebral white matter on MRI	23503	ZFYVE26	ORPHA:100996
HP:0030890	Hyperintensity of cerebral white matter on MRI	11277	TREX1	ORPHA:247691
HP:0030890	Hyperintensity of cerebral white matter on MRI	54704	PDP1	ORPHA:79246
HP:0030890	Hyperintensity of cerebral white matter on MRI	4854	NOTCH3	ORPHA:136
HP:0030890	Hyperintensity of cerebral white matter on MRI	2548	GAA	ORPHA:308552
HP:0030890	Hyperintensity of cerebral white matter on MRI	83480	PUS3	ORPHA:488627
HP:0030890	Hyperintensity of cerebral white matter on MRI	5354	PLP1	ORPHA:280210
HP:0030890	Hyperintensity of cerebral white matter on MRI	5354	PLP1	ORPHA:280219
HP:0007410	Palmoplantar hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0007410	Palmoplantar hyperhidrosis	1508	CTSB	OMIM:148370
HP:0007410	Palmoplantar hyperhidrosis	80326	WNT10A	OMIM:150400
HP:0007410	Palmoplantar hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0007410	Palmoplantar hyperhidrosis	8710	SERPINB7	OMIM:615598
HP:0007410	Palmoplantar hyperhidrosis	9373	PLAA	OMIM:617527
HP:0007410	Palmoplantar hyperhidrosis	3872	KRT17	OMIM:167210
HP:0007410	Palmoplantar hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	162514	TRPV3	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	64065	PERP	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0007410	Palmoplantar hyperhidrosis	3868	KRT16	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	3853	KRT6A	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	1041	CDSN	OMIM:270300
HP:0007411	Hypoplastic-absent sebaceous glands	1896	EDA	OMIM:305100
HP:0007412	Macular hyperpigmented dermopathy	1308	COL17A1	OMIM:619787
HP:0007413	Nevus flammeus of the forehead	55252	ASXL2	OMIM:617190
HP:0007413	Nevus flammeus of the forehead	81857	MED25	ORPHA:464738
HP:0007413	Nevus flammeus of the forehead	81857	MED25	OMIM:616449
HP:0007413	Nevus flammeus of the forehead	3930	LBR	OMIM:618019
HP:0007413	Nevus flammeus of the forehead	118924	FRA10AC1	OMIM:620113
HP:0007413	Nevus flammeus of the forehead	9939	RBM8A	ORPHA:3320
HP:0007413	Nevus flammeus of the forehead	9939	RBM8A	OMIM:274000
HP:0007413	Nevus flammeus of the forehead	5354	PLP1	ORPHA:280229
HP:0007413	Nevus flammeus of the forehead	8621	CDK13	OMIM:617360
HP:0007413	Nevus flammeus of the forehead	8558	CDK10	OMIM:617694
HP:0007414	Neonatal wrinkled skin of hands and feet	23545	ATP6V0A2	OMIM:278250
HP:0007414	Neonatal wrinkled skin of hands and feet	92344	GORAB	OMIM:231070
HP:0000250	Dense calvaria	6448	SGSH	OMIM:252900
HP:0000250	Dense calvaria	138050	HGSNAT	OMIM:252930
HP:0000250	Dense calvaria	4669	NAGLU	OMIM:252920
HP:0000253	Progressive microcephaly	91949	COG7	OMIM:608779
HP:0000253	Progressive microcephaly	91949	COG7	ORPHA:79333
HP:0000253	Progressive microcephaly	4204	MECP2	OMIM:300673
HP:0000253	Progressive microcephaly	4204	MECP2	ORPHA:778
HP:0000253	Progressive microcephaly	6792	CDKL5	OMIM:300672
HP:0000253	Progressive microcephaly	1267	CNP	OMIM:619071
HP:0000253	Progressive microcephaly	10617	STAMBP	OMIM:614261
HP:0000253	Progressive microcephaly	91452	ACBD5	OMIM:618863
HP:0000253	Progressive microcephaly	84879	MFSD2A	OMIM:616486
HP:0000253	Progressive microcephaly	7737	RNF113A	OMIM:300953
HP:0000253	Progressive microcephaly	51660	MPC1	OMIM:614741
HP:0000253	Progressive microcephaly	1161	ERCC8	ORPHA:90324
HP:0000253	Progressive microcephaly	2074	ERCC6	ORPHA:90324
HP:0000253	Progressive microcephaly	10564	ARFGEF2	OMIM:608097
HP:0000253	Progressive microcephaly	2290	FOXG1	OMIM:613454
HP:0000253	Progressive microcephaly	8573	CASK	OMIM:300749
HP:0000253	Progressive microcephaly	4719	NDUFS1	OMIM:618226
HP:0000253	Progressive microcephaly	55627	SMPD4	OMIM:618622
HP:0000253	Progressive microcephaly	8818	DPM2	ORPHA:329178
HP:0000253	Progressive microcephaly	11340	EXOSC8	ORPHA:2254
HP:0000253	Progressive microcephaly	5393	EXOSC9	ORPHA:2254
HP:0000253	Progressive microcephaly	23287	AGTPBP1	ORPHA:2254
HP:0000253	Progressive microcephaly	51010	EXOSC3	ORPHA:2254
HP:0000253	Progressive microcephaly	51010	EXOSC3	OMIM:614678
HP:0000253	Progressive microcephaly	7443	VRK1	ORPHA:2254
HP:0000253	Progressive microcephaly	91137	SLC25A46	ORPHA:2254
HP:0000253	Progressive microcephaly	51091	SEPSECS	OMIM:613811
HP:0000253	Progressive microcephaly	51091	SEPSECS	ORPHA:2524
HP:0000253	Progressive microcephaly	22845	DOLK	ORPHA:91131
HP:0000253	Progressive microcephaly	132158	GLYCTK	ORPHA:941
HP:0000253	Progressive microcephaly	56052	ALG1	ORPHA:79327
HP:0000253	Progressive microcephaly	79796	ALG9	ORPHA:79328
HP:0000253	Progressive microcephaly	4247	MGAT2	ORPHA:79329
HP:0000253	Progressive microcephaly	11277	TREX1	OMIM:225750
HP:0000253	Progressive microcephaly	8318	CDC45	OMIM:617063
HP:0000253	Progressive microcephaly	122553	TRAPPC6B	OMIM:617862
HP:0000253	Progressive microcephaly	5859	QARS1	OMIM:615760
HP:0000253	Progressive microcephaly	116461	TSEN15	OMIM:617026
HP:0000253	Progressive microcephaly	116461	TSEN15	ORPHA:2524
HP:0000253	Progressive microcephaly	9326	ZNHIT3	OMIM:260565
HP:0000253	Progressive microcephaly	51741	WWOX	OMIM:616211
HP:0000253	Progressive microcephaly	283989	TSEN54	ORPHA:2524
HP:0000253	Progressive microcephaly	283989	TSEN54	OMIM:277470
HP:0000253	Progressive microcephaly	79042	TSEN34	ORPHA:2524
HP:0000253	Progressive microcephaly	80746	TSEN2	ORPHA:2524
HP:0000253	Progressive microcephaly	80746	TSEN2	OMIM:612389
HP:0000253	Progressive microcephaly	57688	ZSWIM6	OMIM:617865
HP:0000253	Progressive microcephaly	2137	EXTL3	OMIM:617425
HP:0000253	Progressive microcephaly	4190	MDH1	OMIM:618959
HP:0000253	Progressive microcephaly	55704	CCDC88A	OMIM:617507
HP:0000253	Progressive microcephaly	998	CDC42	OMIM:616737
HP:0000253	Progressive microcephaly	6334	SCN8A	OMIM:614558
HP:0000253	Progressive microcephaly	50	ACO2	OMIM:614559
HP:0000253	Progressive microcephaly	84197	POMK	OMIM:615249
HP:0000253	Progressive microcephaly	57038	RARS2	OMIM:611523
HP:0000253	Progressive microcephaly	6509	SLC1A4	OMIM:616657
HP:0000253	Progressive microcephaly	10978	CLP1	OMIM:615803
HP:0000253	Progressive microcephaly	54862	CC2D1A	OMIM:608443
HP:0000253	Progressive microcephaly	9382	COG1	OMIM:611209
HP:0000253	Progressive microcephaly	9382	COG1	ORPHA:263508
HP:0000253	Progressive microcephaly	2891	GRIA2	OMIM:618917
HP:0000253	Progressive microcephaly	23065	EMC1	ORPHA:480898
HP:0000253	Progressive microcephaly	63908	NAPB	OMIM:620033
HP:0000253	Progressive microcephaly	9342	SNAP29	OMIM:609528
HP:0000253	Progressive microcephaly	51651	PTRH2	OMIM:616263
HP:0000253	Progressive microcephaly	23545	ATP6V0A2	ORPHA:357074
HP:0000253	Progressive microcephaly	23545	ATP6V0A2	ORPHA:2834
HP:0000253	Progressive microcephaly	23545	ATP6V0A2	OMIM:278250
HP:0000253	Progressive microcephaly	523	ATP6V1A	ORPHA:357074
HP:0000253	Progressive microcephaly	529	ATP6V1E1	ORPHA:357074
HP:0000253	Progressive microcephaly	440	ASNS	OMIM:615574
HP:0000253	Progressive microcephaly	5538	PPT1	OMIM:256730
HP:0000253	Progressive microcephaly	6709	SPTAN1	OMIM:613477
HP:0000253	Progressive microcephaly	55275	VPS53	OMIM:615851
HP:0000253	Progressive microcephaly	203190	LGI3	OMIM:620007
HP:0000253	Progressive microcephaly	2806	GOT2	OMIM:618721
HP:0000253	Progressive microcephaly	51294	PCDH12	OMIM:251280
HP:0000253	Progressive microcephaly	29920	PYCR2	ORPHA:481152
HP:0000253	Progressive microcephaly	114034	TOE1	OMIM:614969
HP:0000253	Progressive microcephaly	5048	PAFAH1B1	ORPHA:95232
HP:0000253	Progressive microcephaly	3913	LAMB2	OMIM:609049
HP:0000253	Progressive microcephaly	84153	RNASEH2C	OMIM:610329
HP:0000253	Progressive microcephaly	83480	PUS3	ORPHA:488627
HP:0000253	Progressive microcephaly	79087	ALG12	ORPHA:79324
HP:0000253	Progressive microcephaly	79087	ALG12	OMIM:607143
HP:0000253	Progressive microcephaly	2801	GOLGA2	OMIM:620240
HP:0000253	Progressive microcephaly	23096	IQSEC2	ORPHA:397933
HP:0000253	Progressive microcephaly	55163	PNPO	OMIM:610090
HP:0000253	Progressive microcephaly	84188	FAR1	ORPHA:438178
HP:0000253	Progressive microcephaly	10844	TUBGCP2	OMIM:618737
HP:0000253	Progressive microcephaly	221927	BRAT1	OMIM:614498
HP:0000253	Progressive microcephaly	84342	COG8	ORPHA:95428
HP:0000253	Progressive microcephaly	11284	PNKP	OMIM:613402
HP:0000253	Progressive microcephaly	10535	RNASEH2A	OMIM:610333
HP:0000253	Progressive microcephaly	7407	VARS1	OMIM:617802
HP:0000253	Progressive microcephaly	9373	PLAA	OMIM:617527
HP:0000253	Progressive microcephaly	27445	PCLO	OMIM:608027
HP:0000253	Progressive microcephaly	9343	EFTUD2	OMIM:610536
HP:0000253	Progressive microcephaly	23516	SLC39A14	ORPHA:521406
HP:0000253	Progressive microcephaly	6513	SLC2A1	ORPHA:71277
HP:0007418	Alopecia totalis	8456	FOXN1	ORPHA:169095
HP:0007418	Alopecia totalis	3728	JUP	ORPHA:158687
HP:0007418	Alopecia totalis	4000	LMNA	ORPHA:740
HP:0007418	Alopecia totalis	10269	ZMPSTE24	ORPHA:740
HP:0007418	Alopecia totalis	1832	DSP	OMIM:609638
HP:0007418	Alopecia totalis	4791	NFKB2	ORPHA:293978
HP:0007418	Alopecia totalis	4791	NFKB2	OMIM:615577
HP:0007418	Alopecia totalis	7386	UQCRFS1	OMIM:618775
HP:0007418	Alopecia totalis	54101	RIPK4	OMIM:263650
HP:0007418	Alopecia totalis	54101	RIPK4	ORPHA:1234
HP:0007418	Alopecia totalis	60529	ALX4	OMIM:613451
HP:0007418	Alopecia totalis	51360	MBTPS2	OMIM:300918
HP:0007418	Alopecia totalis	9401	RECQL4	ORPHA:221016
HP:0007418	Alopecia totalis	10804	GJB6	OMIM:129500
HP:0007418	Alopecia totalis	64682	ANAPC1	ORPHA:221008
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:601321
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:162200
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:193520
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	ORPHA:638
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	ORPHA:97685
HP:0007565	Multiple cafe-au-lait spots	4436	MSH2	OMIM:619096
HP:0007565	Multiple cafe-au-lait spots	2956	MSH6	OMIM:619097
HP:0007565	Multiple cafe-au-lait spots	5980	REV3L	ORPHA:570
HP:0007565	Multiple cafe-au-lait spots	23129	PLXND1	ORPHA:570
HP:0007565	Multiple cafe-au-lait spots	11253	MAN1B1	ORPHA:397941
HP:0007565	Multiple cafe-au-lait spots	2189	FANCG	OMIM:614082
HP:0007565	Multiple cafe-au-lait spots	2189	FANCG	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	8242	KDM5C	ORPHA:85279
HP:0007565	Multiple cafe-au-lait spots	5116	PCNT	ORPHA:2637
HP:0007565	Multiple cafe-au-lait spots	5604	MAP2K1	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5605	MAP2K2	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5605	MAP2K2	ORPHA:638
HP:0007565	Multiple cafe-au-lait spots	3845	KRAS	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	673	BRAF	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5728	PTEN	ORPHA:109
HP:0007565	Multiple cafe-au-lait spots	5728	PTEN	ORPHA:744
HP:0007565	Multiple cafe-au-lait spots	5728	PTEN	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	672	BRCA1	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	10459	MAD2L2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	7516	XRCC2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	29089	UBE2T	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	675	BRCA2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55120	FANCL	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2177	FANCD2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2175	FANCA	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2187	FANCB	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2176	FANCC	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2178	FANCE	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2188	FANCF	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	5888	RAD51	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	5889	RAD51C	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55159	RFWD3	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	83990	BRIP1	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	83990	BRIP1	OMIM:609054
HP:0007565	Multiple cafe-au-lait spots	57697	FANCM	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	79728	PALB2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	84464	SLX4	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2072	ERCC4	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55215	FANCI	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	11322	TMC6	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	3574	IL7	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	147138	TMC8	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	10519	CIB1	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	4292	MLH1	OMIM:276300
HP:0007565	Multiple cafe-au-lait spots	207	AKT1	ORPHA:744
HP:0007565	Multiple cafe-au-lait spots	207	AKT1	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	472	ATM	ORPHA:100
HP:0007565	Multiple cafe-au-lait spots	10483	SEC23B	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6390	SDHB	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6392	SDHD	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6391	SDHC	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	205717	USF3	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	5290	PIK3CA	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	100144748	KLLN	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	117581	TWIST2	ORPHA:1807
HP:0007565	Multiple cafe-au-lait spots	10058	ABCB6	ORPHA:241
HP:0007565	Multiple cafe-au-lait spots	8626	TP63	ORPHA:69085
HP:0007565	Multiple cafe-au-lait spots	9184	BUB3	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	699	BUB1	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	9702	CEP57	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	9319	TRIP13	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	701	BUB1B	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	5395	PMS2	OMIM:619101
HP:0007565	Multiple cafe-au-lait spots	473	RERE	OMIM:616975
HP:0007565	Multiple cafe-au-lait spots	161742	SPRED1	ORPHA:137605
HP:0007565	Multiple cafe-au-lait spots	5573	PRKAR1A	ORPHA:1359
HP:0007565	Multiple cafe-au-lait spots	50940	PDE11A	ORPHA:1359
HP:0007565	Multiple cafe-au-lait spots	2767	GNA11	ORPHA:1556
HP:0007565	Multiple cafe-au-lait spots	151188	ARL6IP6	ORPHA:1556
HP:0010476	Aplasia/Hypoplasia of the bladder	51360	MBTPS2	ORPHA:85284
HP:0010476	Aplasia/Hypoplasia of the bladder	23426	GRIP1	OMIM:617667
HP:0010476	Aplasia/Hypoplasia of the bladder	9968	MED12	OMIM:301068
HP:0010476	Aplasia/Hypoplasia of the bladder	92002	CCNQ	OMIM:300707
HP:0010476	Aplasia/Hypoplasia of the bladder	79796	ALG9	ORPHA:79328
HP:0010476	Aplasia/Hypoplasia of the bladder	54361	WNT4	ORPHA:139466
HP:0010476	Aplasia/Hypoplasia of the bladder	54361	WNT4	OMIM:611812
HP:0010476	Aplasia/Hypoplasia of the bladder	54903	MKS1	OMIM:249000
HP:0010476	Aplasia/Hypoplasia of the bladder	3909	LAMA3	ORPHA:79404
HP:0010476	Aplasia/Hypoplasia of the bladder	3918	LAMC2	ORPHA:79404
HP:0010476	Aplasia/Hypoplasia of the bladder	3914	LAMB3	ORPHA:79404
HP:0010476	Aplasia/Hypoplasia of the bladder	3655	ITGA6	ORPHA:79403
HP:0010476	Aplasia/Hypoplasia of the bladder	3691	ITGB4	ORPHA:79403
HP:0010476	Aplasia/Hypoplasia of the bladder	3691	ITGB4	ORPHA:158684
HP:0010476	Aplasia/Hypoplasia of the bladder	341640	FREM2	OMIM:617666
HP:0010476	Aplasia/Hypoplasia of the bladder	5339	PLEC	ORPHA:158684
HP:0010476	Aplasia/Hypoplasia of the bladder	57545	CC2D2A	OMIM:612284
HP:0010477	Aplasia of the bladder	3655	ITGA6	ORPHA:79403
HP:0010477	Aplasia of the bladder	3691	ITGB4	ORPHA:79403
HP:0010477	Aplasia of the bladder	3691	ITGB4	ORPHA:158684
HP:0010477	Aplasia of the bladder	341640	FREM2	OMIM:617666
HP:0010477	Aplasia of the bladder	5339	PLEC	ORPHA:158684
HP:0010477	Aplasia of the bladder	57545	CC2D2A	OMIM:612284
HP:0010478	Abnormality of the urachus	745	MYRF	OMIM:618280
HP:0010478	Abnormality of the urachus	4714	NDUFB8	OMIM:618252
HP:0010478	Abnormality of the urachus	5880	RAC2	OMIM:608203
HP:0010478	Abnormality of the urachus	92579	G6PC3	OMIM:612541
HP:0010479	Patent urachus	745	MYRF	OMIM:618280
HP:0010479	Patent urachus	4714	NDUFB8	OMIM:618252
HP:0010473	Porphyrinuria	5498	PPOX	OMIM:176200
HP:0010473	Porphyrinuria	5498	PPOX	ORPHA:79473
HP:0010473	Porphyrinuria	3077	HFE	OMIM:176200
HP:0010473	Porphyrinuria	3077	HFE	OMIM:176100
HP:0010473	Porphyrinuria	7389	UROD	OMIM:176100
HP:0010473	Porphyrinuria	28234	SLCO1B3	ORPHA:3111
HP:0010473	Porphyrinuria	10599	SLCO1B1	ORPHA:3111
HP:0010473	Porphyrinuria	3145	HMBS	ORPHA:79276
HP:0010473	Porphyrinuria	7390	UROS	ORPHA:79277
HP:0010473	Porphyrinuria	2623	GATA1	ORPHA:79277
HP:0010473	Porphyrinuria	1371	CPOX	OMIM:618892
HP:0010472	Abnormal circulating porphyrin concentration	1161	ERCC8	OMIM:614621
HP:0010472	Abnormal circulating porphyrin concentration	1371	CPOX	ORPHA:79273
HP:0010472	Abnormal circulating porphyrin concentration	5498	PPOX	ORPHA:79473
HP:0010472	Abnormal circulating porphyrin concentration	2235	FECH	ORPHA:79278
HP:0010472	Abnormal circulating porphyrin concentration	7389	UROD	ORPHA:95159
HP:0010472	Abnormal circulating porphyrin concentration	210	ALAD	ORPHA:100924
HP:0010472	Abnormal circulating porphyrin concentration	10845	CLPX	OMIM:618015
HP:0010472	Abnormal circulating porphyrin concentration	7390	UROS	ORPHA:79277
HP:0010472	Abnormal circulating porphyrin concentration	2623	GATA1	ORPHA:79277
HP:0010472	Abnormal circulating porphyrin concentration	212	ALAS2	OMIM:300752
HP:0010471	Oligosacchariduria	2517	FUCA1	OMIM:230000
HP:0010471	Oligosacchariduria	4125	MAN2B1	ORPHA:309282
HP:0010471	Oligosacchariduria	4125	MAN2B1	ORPHA:309288
HP:0010471	Oligosacchariduria	2548	GAA	ORPHA:308552
HP:0010471	Oligosacchariduria	4952	OCRL	ORPHA:534
HP:0010471	Oligosacchariduria	57231	SNX14	OMIM:616354
HP:0010471	Oligosacchariduria	57231	SNX14	ORPHA:397709
HP:0010471	Oligosacchariduria	4758	NEU1	ORPHA:812
HP:0010471	Oligosacchariduria	4758	NEU1	OMIM:256550
HP:0010471	Oligosacchariduria	4126	MANBA	OMIM:248510
HP:0010471	Oligosacchariduria	2720	GLB1	ORPHA:79255
HP:0007420	Spontaneous hematomas	2165	F13B	ORPHA:331
HP:0007420	Spontaneous hematomas	2162	F13A1	ORPHA:331
HP:0007420	Spontaneous hematomas	2162	F13A1	OMIM:613225
HP:0007420	Spontaneous hematomas	2658	GDF2	ORPHA:774
HP:0007420	Spontaneous hematomas	94	ACVRL1	ORPHA:774
HP:0007420	Spontaneous hematomas	4089	SMAD4	ORPHA:774
HP:0007420	Spontaneous hematomas	2022	ENG	ORPHA:774
HP:0007420	Spontaneous hematomas	538	ATP7A	ORPHA:565
HP:0007420	Spontaneous hematomas	5054	SERPINE1	ORPHA:465
HP:0007420	Spontaneous hematomas	2157	F8	ORPHA:177926
HP:0007420	Spontaneous hematomas	2157	F8	ORPHA:169805
HP:0007420	Spontaneous hematomas	2811	GP1BA	ORPHA:274
HP:0007420	Spontaneous hematomas	2811	GP1BA	ORPHA:853
HP:0007420	Spontaneous hematomas	2812	GP1BB	ORPHA:274
HP:0007420	Spontaneous hematomas	2812	GP1BB	ORPHA:853
HP:0007420	Spontaneous hematomas	2815	GP9	ORPHA:274
HP:0007420	Spontaneous hematomas	5568	PRKACG	OMIM:616176
HP:0007420	Spontaneous hematomas	84342	COG8	ORPHA:95428
HP:0007420	Spontaneous hematomas	3674	ITGA2B	ORPHA:849
HP:0007420	Spontaneous hematomas	3674	ITGA2B	ORPHA:853
HP:0007420	Spontaneous hematomas	3690	ITGB3	ORPHA:849
HP:0007420	Spontaneous hematomas	3690	ITGB3	ORPHA:853
HP:0007420	Spontaneous hematomas	7454	WAS	ORPHA:906
HP:0007420	Spontaneous hematomas	7456	WIPF1	ORPHA:906
HP:0007420	Spontaneous hematomas	2159	F10	ORPHA:328
HP:0007420	Spontaneous hematomas	3673	ITGA2	ORPHA:853
HP:0007420	Spontaneous hematomas	135228	CD109	ORPHA:853
HP:0007420	Spontaneous hematomas	2153	F5	ORPHA:326
HP:0007421	Telangiectases of the cheeks	79158	GNPTAB	ORPHA:576
HP:0007421	Telangiectases of the cheeks	5426	POLE	OMIM:615139
HP:0007421	Telangiectases of the cheeks	831	CAST	OMIM:616295
HP:0007421	Telangiectases of the cheeks	81031	SLC2A10	OMIM:208050
HP:0007477	Abnormal dermatoglyphics	23394	ADNP	ORPHA:404448
HP:0007477	Abnormal dermatoglyphics	324	APC	ORPHA:261584
HP:0007477	Abnormal dermatoglyphics	340533	NEXMIF	OMIM:300912
HP:0007477	Abnormal dermatoglyphics	8294	H4C9	OMIM:619951
HP:0007477	Abnormal dermatoglyphics	83932	SPRTN	OMIM:616200
HP:0007477	Abnormal dermatoglyphics	8425	LTBP4	OMIM:613177
HP:0007477	Abnormal dermatoglyphics	51126	NAA20	OMIM:619717
HP:0007477	Abnormal dermatoglyphics	2972	BRF1	OMIM:616202
HP:0007477	Abnormal dermatoglyphics	2972	BRF1	ORPHA:444072
HP:0007477	Abnormal dermatoglyphics	6228	RPS23	OMIM:617412
HP:0007477	Abnormal dermatoglyphics	5885	RAD21	OMIM:614701
HP:0007477	Abnormal dermatoglyphics	55627	SMPD4	OMIM:618622
HP:0007477	Abnormal dermatoglyphics	81857	MED25	OMIM:616449
HP:0007477	Abnormal dermatoglyphics	81857	MED25	ORPHA:464738
HP:0007477	Abnormal dermatoglyphics	123263	MTFMT	OMIM:614947
HP:0007477	Abnormal dermatoglyphics	10274	STAG1	ORPHA:502434
HP:0007477	Abnormal dermatoglyphics	56916	SMARCAD1	OMIM:129200
HP:0007477	Abnormal dermatoglyphics	5830	PEX5	OMIM:214110
HP:0007477	Abnormal dermatoglyphics	197131	UBR1	OMIM:243800
HP:0007477	Abnormal dermatoglyphics	9578	CDC42BPB	OMIM:619841
HP:0007477	Abnormal dermatoglyphics	3020	H3-3A	OMIM:619720
HP:0007477	Abnormal dermatoglyphics	10300	KATNB1	OMIM:616212
HP:0007477	Abnormal dermatoglyphics	89910	UBE3B	OMIM:244450
HP:0007477	Abnormal dermatoglyphics	51506	UFC1	OMIM:618076
HP:0007477	Abnormal dermatoglyphics	55790	CSGALNACT1	OMIM:618870
HP:0007477	Abnormal dermatoglyphics	4010	LMX1B	ORPHA:495818
HP:0007477	Abnormal dermatoglyphics	6812	STXBP1	ORPHA:495818
HP:0007477	Abnormal dermatoglyphics	2137	EXTL3	OMIM:617425
HP:0007477	Abnormal dermatoglyphics	22858	CILK1	OMIM:612651
HP:0007477	Abnormal dermatoglyphics	9382	COG1	OMIM:611209
HP:0007477	Abnormal dermatoglyphics	5189	PEX1	OMIM:214100
HP:0007477	Abnormal dermatoglyphics	6197	RPS6KA3	OMIM:303600
HP:0007477	Abnormal dermatoglyphics	84987	COX14	OMIM:619053
HP:0007477	Abnormal dermatoglyphics	57492	ARID1B	OMIM:135900
HP:0007477	Abnormal dermatoglyphics	54453	RIN2	OMIM:613075
HP:0007477	Abnormal dermatoglyphics	3899	AFF3	OMIM:619297
HP:0007477	Abnormal dermatoglyphics	50814	NSDHL	OMIM:308050
HP:0007477	Abnormal dermatoglyphics	9968	MED12	ORPHA:93932
HP:0007477	Abnormal dermatoglyphics	9968	MED12	OMIM:305450
HP:0007477	Abnormal dermatoglyphics	92579	G6PC3	OMIM:612541
HP:0007477	Abnormal dermatoglyphics	114034	TOE1	OMIM:614969
HP:0007477	Abnormal dermatoglyphics	157680	VPS13B	OMIM:216550
HP:0007477	Abnormal dermatoglyphics	7020	TFAP2A	OMIM:113620
HP:0007477	Abnormal dermatoglyphics	9896	FIG4	ORPHA:3472
HP:0007477	Abnormal dermatoglyphics	9896	FIG4	OMIM:216340
HP:0007477	Abnormal dermatoglyphics	55697	VAC14	ORPHA:3472
HP:0007477	Abnormal dermatoglyphics	652	BMP4	OMIM:607932
HP:0007477	Abnormal dermatoglyphics	5442	POLRMT	OMIM:619743
HP:0007477	Abnormal dermatoglyphics	132158	GLYCTK	OMIM:220120
HP:0007477	Abnormal dermatoglyphics	23036	ZNF292	OMIM:619188
HP:0007477	Abnormal dermatoglyphics	55148	UBR7	OMIM:619189
HP:0007477	Abnormal dermatoglyphics	4591	TRIM37	OMIM:253250
HP:0007477	Abnormal dermatoglyphics	79813	EHMT1	OMIM:610253
HP:0007477	Abnormal dermatoglyphics	55012	PPP2R3C	OMIM:618419
HP:0007477	Abnormal dermatoglyphics	1954	MEGF8	OMIM:614976
HP:0007477	Abnormal dermatoglyphics	2783	GNB2	OMIM:619503
HP:0007477	Abnormal dermatoglyphics	53834	FGFRL1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	1487	CTBP1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	3954	LETM1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	7468	NSD2	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	10815	CPLX1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	26040	SETBP1	OMIM:269150
HP:0007477	Abnormal dermatoglyphics	727857	BHLHA9	OMIM:609432
HP:0007477	Abnormal dermatoglyphics	1802	DPH2	OMIM:620062
HP:0007477	Abnormal dermatoglyphics	11285	B4GALT7	OMIM:130070
HP:0007477	Abnormal dermatoglyphics	1186	CLCN7	OMIM:618541
HP:0007477	Abnormal dermatoglyphics	55768	NGLY1	OMIM:615273
HP:0007477	Abnormal dermatoglyphics	1349	COX7B	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	3052	HCCS	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	54539	NDUFB11	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	5190	PEX6	OMIM:614863
HP:0007477	Abnormal dermatoglyphics	5828	PEX2	OMIM:614866
HP:0007477	Abnormal dermatoglyphics	150468	CKAP2L	OMIM:272440
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	ORPHA:459070
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	OMIM:300998
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	ORPHA:435938
HP:0007477	Abnormal dermatoglyphics	55165	CEP55	OMIM:236500
HP:0007477	Abnormal dermatoglyphics	8085	KMT2D	OMIM:620186
HP:0007477	Abnormal dermatoglyphics	23137	SMC5	OMIM:620185
HP:0007477	Abnormal dermatoglyphics	27086	FOXP1	ORPHA:391372
HP:0007477	Abnormal dermatoglyphics	388015	RTL1	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	388015	RTL1	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	8788	DLK1	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	8788	DLK1	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	55384	MEG3	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	55384	MEG3	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	6925	TCF4	OMIM:610954
HP:0007477	Abnormal dermatoglyphics	6925	TCF4	ORPHA:2896
HP:0007477	Abnormal dermatoglyphics	10430	TMEM147	OMIM:620075
HP:0007477	Abnormal dermatoglyphics	23483	TGDS	OMIM:616145
HP:0007477	Abnormal dermatoglyphics	6611	SMS	OMIM:309583
HP:0007477	Abnormal dermatoglyphics	25836	NIPBL	OMIM:122470
HP:0007477	Abnormal dermatoglyphics	23219	FBXO28	OMIM:619777
HP:0007477	Abnormal dermatoglyphics	2146	EZH2	OMIM:277590
HP:0007477	Abnormal dermatoglyphics	2316	FLNA	ORPHA:1826
HP:0007477	Abnormal dermatoglyphics	6885	MAP3K7	ORPHA:1826
HP:0007477	Abnormal dermatoglyphics	51322	WAC	ORPHA:466950
HP:0007477	Abnormal dermatoglyphics	6595	SMARCA2	OMIM:601358
HP:0007477	Abnormal dermatoglyphics	29123	ANKRD11	OMIM:148050
HP:0007477	Abnormal dermatoglyphics	29123	ANKRD11	ORPHA:2332
HP:0007477	Abnormal dermatoglyphics	2702	GJA5	OMIM:612474
HP:0007477	Abnormal dermatoglyphics	2703	GJA8	OMIM:612474
HP:0007477	Abnormal dermatoglyphics	4208	MEF2C	OMIM:613443
HP:0007477	Abnormal dermatoglyphics	55690	PACS1	ORPHA:329224
HP:0007477	Abnormal dermatoglyphics	6878	TAF6	OMIM:617126
HP:0007477	Abnormal dermatoglyphics	22907	DHX30	OMIM:617804
HP:0007477	Abnormal dermatoglyphics	2245	FGD1	ORPHA:915
HP:0007477	Abnormal dermatoglyphics	2245	FGD1	OMIM:305400
HP:0007477	Abnormal dermatoglyphics	10664	CTCF	OMIM:615502
HP:0007477	Abnormal dermatoglyphics	10664	CTCF	ORPHA:363611
HP:0007477	Abnormal dermatoglyphics	81603	TRIM8	OMIM:619428
HP:0007477	Abnormal dermatoglyphics	9230	RAB11B	OMIM:617807
HP:0007477	Abnormal dermatoglyphics	55081	IFT57	OMIM:617927
HP:0007477	Abnormal dermatoglyphics	3720	JARID2	OMIM:620098
HP:0007477	Abnormal dermatoglyphics	3479	IGF1	ORPHA:73272
HP:0007477	Abnormal dermatoglyphics	5193	PEX12	OMIM:266510
HP:0007477	Abnormal dermatoglyphics	100151683	RNU4ATAC	OMIM:210710
HP:0007477	Abnormal dermatoglyphics	100151683	RNU4ATAC	OMIM:616651
HP:0007477	Abnormal dermatoglyphics	1798	DPAGT1	OMIM:608093
HP:0007477	Abnormal dermatoglyphics	57122	NUP107	OMIM:618348
HP:0007477	Abnormal dermatoglyphics	6418	SET	OMIM:618106
HP:0007477	Abnormal dermatoglyphics	5515	PPP2CA	OMIM:618354
HP:0007477	Abnormal dermatoglyphics	2623	GATA1	OMIM:190685
HP:0007477	Abnormal dermatoglyphics	23030	KDM4B	OMIM:619320
HP:0007477	Abnormal dermatoglyphics	2902	GRIN1	OMIM:617820
HP:0007477	Abnormal dermatoglyphics	55784	MCTP2	ORPHA:1596
HP:0007477	Abnormal dermatoglyphics	23097	CDK19	OMIM:618916
HP:0007477	Abnormal dermatoglyphics	9126	SMC3	OMIM:610759
HP:0007477	Abnormal dermatoglyphics	4131	MAP1B	OMIM:618918
HP:0007477	Abnormal dermatoglyphics	5530	PPP3CA	OMIM:617711
HP:0007477	Abnormal dermatoglyphics	80746	TSEN2	OMIM:612389
HP:0007477	Abnormal dermatoglyphics	64131	XYLT1	OMIM:615777
HP:0007477	Abnormal dermatoglyphics	9361	LONP1	ORPHA:79243
HP:0007477	Abnormal dermatoglyphics	5160	PDHA1	ORPHA:79243
HP:0007477	Abnormal dermatoglyphics	55764	IFT122	OMIM:218330
HP:0007477	Abnormal dermatoglyphics	8604	SLC25A12	OMIM:612949
HP:0007477	Abnormal dermatoglyphics	9241	NOG	OMIM:186500
HP:0007477	Abnormal dermatoglyphics	22827	PUF60	ORPHA:508488
HP:0007477	Abnormal dermatoglyphics	10943	MSL3	OMIM:301032
HP:0007477	Abnormal dermatoglyphics	3977	LIFR	OMIM:601559
HP:0007477	Abnormal dermatoglyphics	545	ATR	OMIM:210600
HP:0007477	Abnormal dermatoglyphics	57187	THOC2	ORPHA:457240
HP:0007477	Abnormal dermatoglyphics	57572	DOCK6	OMIM:614219
HP:0007477	Abnormal dermatoglyphics	94005	PIGS	OMIM:618143
HP:0007477	Abnormal dermatoglyphics	145173	B3GLCT	OMIM:261540
HP:0007477	Abnormal dermatoglyphics	6711	SPTBN1	OMIM:619475
HP:0007477	Abnormal dermatoglyphics	1387	CREBBP	OMIM:180849
HP:0007477	Abnormal dermatoglyphics	2033	EP300	OMIM:180849
HP:0007477	Abnormal dermatoglyphics	6938	TCF12	OMIM:615314
HP:0007477	Abnormal dermatoglyphics	92002	CCNQ	OMIM:300707
HP:0007477	Abnormal dermatoglyphics	91461	PKDCC	OMIM:618821
HP:0007477	Abnormal dermatoglyphics	4329	ALDH6A1	OMIM:614105
HP:0007477	Abnormal dermatoglyphics	1457	CSNK2A1	OMIM:617062
HP:0007477	Abnormal dermatoglyphics	7204	TRIO	OMIM:617061
HP:0007477	Abnormal dermatoglyphics	55617	TASP1	OMIM:618950
HP:0007477	Abnormal dermatoglyphics	51305	KCNK9	OMIM:612292
HP:0007477	Abnormal dermatoglyphics	83737	ITCH	OMIM:613385
HP:0007477	Abnormal dermatoglyphics	112752	IFT43	OMIM:617866
HP:0007477	Abnormal dermatoglyphics	9702	CEP57	OMIM:614114
HP:0007477	Abnormal dermatoglyphics	9373	PLAA	ORPHA:521426
HP:0007477	Abnormal dermatoglyphics	9373	PLAA	OMIM:617527
HP:0007477	Abnormal dermatoglyphics	64093	SMOC1	OMIM:206920
HP:0007477	Abnormal dermatoglyphics	7169	TPM2	OMIM:108120
HP:0007477	Abnormal dermatoglyphics	403	ARL3	OMIM:618161
HP:0007477	Abnormal dermatoglyphics	8200	GDF5	OMIM:201250
HP:0007477	Abnormal dermatoglyphics	1748	DLX4	OMIM:616788
HP:0007477	Abnormal dermatoglyphics	1663	DDX11	OMIM:613398
HP:0007477	Abnormal dermatoglyphics	2733	GLE1	OMIM:611890
HP:0007477	Abnormal dermatoglyphics	738	VPS51	OMIM:618606
HP:0007477	Abnormal dermatoglyphics	51594	NBAS	OMIM:614800
HP:0007477	Abnormal dermatoglyphics	23299	BICD2	OMIM:618291
HP:0007477	Abnormal dermatoglyphics	58499	ZNF462	OMIM:618619
HP:0007477	Abnormal dermatoglyphics	7298	TYMS	OMIM:620040
HP:0007477	Abnormal dermatoglyphics	55636	CHD7	OMIM:214800
HP:0007477	Abnormal dermatoglyphics	8260	NAA10	OMIM:309800
HP:0007477	Abnormal dermatoglyphics	54880	BCOR	OMIM:309800
HP:0007477	Abnormal dermatoglyphics	64840	PORCN	ORPHA:2092
HP:0007477	Abnormal dermatoglyphics	113189	CHST14	ORPHA:2953
HP:0007477	Abnormal dermatoglyphics	29940	DSE	ORPHA:2953
HP:0007477	Abnormal dermatoglyphics	26053	AUTS2	OMIM:615834
HP:0007477	Abnormal dermatoglyphics	26053	AUTS2	ORPHA:352490
HP:0007477	Abnormal dermatoglyphics	8985	PLOD3	OMIM:612394
HP:0007477	Abnormal dermatoglyphics	55252	ASXL2	OMIM:617190
HP:0007477	Abnormal dermatoglyphics	8036	SHOC2	OMIM:607721
HP:0007477	Abnormal dermatoglyphics	65082	VPS33A	ORPHA:505248
HP:0007477	Abnormal dermatoglyphics	3190	HNRNPK	OMIM:616580
HP:0007477	Abnormal dermatoglyphics	4052	LTBP1	OMIM:619451
HP:0007477	Abnormal dermatoglyphics	8558	CDK10	OMIM:617694
HP:0007477	Abnormal dermatoglyphics	57479	PRR12	OMIM:619539
HP:0007477	Abnormal dermatoglyphics	23545	ATP6V0A2	ORPHA:2834
HP:0007477	Abnormal dermatoglyphics	23545	ATP6V0A2	OMIM:278250
HP:0007477	Abnormal dermatoglyphics	29957	SLC25A24	OMIM:612289
HP:0007477	Abnormal dermatoglyphics	673	BRAF	OMIM:115150
HP:0007477	Abnormal dermatoglyphics	673	BRAF	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	673	BRAF	OMIM:613706
HP:0007477	Abnormal dermatoglyphics	5604	MAP2K1	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	5605	MAP2K2	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	3845	KRAS	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	83550	GPR101	ORPHA:963
HP:0007477	Abnormal dermatoglyphics	9049	AIP	ORPHA:963
HP:0007477	Abnormal dermatoglyphics	23384	SPECC1L	OMIM:600251
HP:0007477	Abnormal dermatoglyphics	55593	OTUD5	OMIM:301056
HP:0007477	Abnormal dermatoglyphics	283209	PGM2L1	OMIM:620191
HP:0007477	Abnormal dermatoglyphics	79718	TBL1XR1	OMIM:602342
HP:0007477	Abnormal dermatoglyphics	79718	TBL1XR1	ORPHA:487825
HP:0007477	Abnormal dermatoglyphics	171023	ASXL1	OMIM:605039
HP:0007477	Abnormal dermatoglyphics	10651	MTX2	OMIM:619127
HP:0007477	Abnormal dermatoglyphics	80816	ASXL3	OMIM:615485
HP:0007477	Abnormal dermatoglyphics	1806	DPYD	ORPHA:1675
HP:0007477	Abnormal dermatoglyphics	2475	MTOR	OMIM:616638
HP:0007477	Abnormal dermatoglyphics	200734	SPRED2	OMIM:619745
HP:0007477	Abnormal dermatoglyphics	526	ATP6V1B2	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	3756	KCNH1	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	3782	KCNN3	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	3265	HRAS	OMIM:218040
HP:0007477	Abnormal dermatoglyphics	8241	RBM10	OMIM:311900
HP:0007477	Abnormal dermatoglyphics	1308	COL17A1	ORPHA:79406
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	OMIM:161000
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	ORPHA:69087
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	OMIM:125595
HP:0007477	Abnormal dermatoglyphics	8626	TP63	OMIM:103285
HP:0007477	Abnormal dermatoglyphics	2263	FGFR2	ORPHA:1555
HP:0007477	Abnormal dermatoglyphics	27238	GPKOW	ORPHA:2570
HP:0007477	Abnormal dermatoglyphics	6804	STX1A	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	7461	CLIP2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	84277	DNAJC30	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	8468	FKBP6	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	5982	RFC2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	2969	GTF2I	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	3984	LIMK1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	9569	GTF2IRD1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	155382	VPS37D	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	155368	METTL27	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	114049	BUD23	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	7458	EIF4H	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	84163	GTF2IRD2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	9275	BCL7B	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	26608	TBL2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	653361	NCF1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	135886	TMEM270	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	51085	MLXIPL	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	9031	BAZ1B	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	2006	ELN	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	90416	CCDC32	OMIM:619123
HP:0007477	Abnormal dermatoglyphics	7403	KDM6A	ORPHA:2322
HP:0007477	Abnormal dermatoglyphics	1717	DHCR7	ORPHA:818
HP:0007477	Abnormal dermatoglyphics	5818	NECTIN1	ORPHA:3253
HP:0007477	Abnormal dermatoglyphics	4038	LRP4	ORPHA:3258
HP:0007477	Abnormal dermatoglyphics	5925	RB1	ORPHA:1587
HP:0007477	Abnormal dermatoglyphics	22930	RAB3GAP1	ORPHA:1387
HP:0007477	Abnormal dermatoglyphics	25782	RAB3GAP2	ORPHA:1387
HP:0007477	Abnormal dermatoglyphics	55681	SCYL2	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	84570	COL25A1	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	57222	ERGIC1	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	22800	RRAS2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	867	CBL	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	8216	LZTR1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6016	RIT1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6237	RRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5894	RAF1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	22808	MRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	4893	NRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6654	SOS1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6655	SOS2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5781	PTPN11	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5922	RASA2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	2138	EYA1	ORPHA:2792
HP:0007477	Abnormal dermatoglyphics	5075	PAX1	ORPHA:2792
HP:0007477	Abnormal dermatoglyphics	3209	HOXA13	ORPHA:2438
HP:0007477	Abnormal dermatoglyphics	1723	DHODH	ORPHA:246
HP:0007477	Abnormal dermatoglyphics	9487	PIGL	ORPHA:3474
HP:0007477	Abnormal dermatoglyphics	57167	SALL4	ORPHA:2307
HP:0007477	Abnormal dermatoglyphics	7291	TWIST1	ORPHA:794
HP:0007477	Abnormal dermatoglyphics	2261	FGFR3	ORPHA:794
HP:0007477	Abnormal dermatoglyphics	23476	BRD4	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	8243	SMC1A	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	55869	HDAC8	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	5792	PTPRF	OMIM:616001
HP:0007477	Abnormal dermatoglyphics	10908	PNPLA6	ORPHA:2377
HP:0007477	Abnormal dermatoglyphics	9894	TELO2	ORPHA:488642
HP:0007477	Abnormal dermatoglyphics	9759	HDAC4	ORPHA:1001
HP:0007477	Abnormal dermatoglyphics	157570	ESCO2	ORPHA:3103
HP:0007477	Abnormal dermatoglyphics	5184	PEPD	ORPHA:742
HP:0007477	Abnormal dermatoglyphics	2131	EXT1	ORPHA:502
HP:0007477	Abnormal dermatoglyphics	7227	TRPS1	ORPHA:502
HP:0007477	Abnormal dermatoglyphics	283989	TSEN54	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	116461	TSEN15	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	79042	TSEN34	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	51091	SEPSECS	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	129563	DIS3L2	ORPHA:2849
HP:0007477	Abnormal dermatoglyphics	55670	PEX26	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5824	PEX19	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	8504	PEX3	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	9409	PEX16	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	8799	PEX11B	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5194	PEX13	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5195	PEX14	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5192	PEX10	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	9469	CHST3	OMIM:143095
HP:0007477	Abnormal dermatoglyphics	7140	TNNT3	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	7136	TNNI2	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	23511	NUP188	OMIM:618804
HP:0007477	Abnormal dermatoglyphics	658	BMPR1B	ORPHA:2639
HP:0007477	Abnormal dermatoglyphics	4087	SMAD2	OMIM:619657
HP:0007477	Abnormal dermatoglyphics	64359	NXN	ORPHA:1507
HP:0007477	Abnormal dermatoglyphics	4920	ROR2	ORPHA:1507
HP:0007477	Abnormal dermatoglyphics	10225	CD96	ORPHA:1308
HP:0007477	Abnormal dermatoglyphics	23522	KAT6B	ORPHA:3047
HP:0007477	Abnormal dermatoglyphics	147372	CCBE1	OMIM:235510
HP:0007477	Abnormal dermatoglyphics	9496	TBX4	ORPHA:261279
HP:0007477	Abnormal dermatoglyphics	1801	DPH1	ORPHA:459061
HP:0007477	Abnormal dermatoglyphics	2254	FGF9	ORPHA:3237
HP:0007477	Abnormal dermatoglyphics	4927	NUP88	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	7846	TUBA1A	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	4654	MYOD1	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	4593	MUSK	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	5913	RAPSN	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	6572	SLC18A3	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	285489	DOK7	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	91252	SLC39A13	ORPHA:157965
HP:0007477	Abnormal dermatoglyphics	63895	PIEZO2	ORPHA:1154
HP:0007477	Abnormal dermatoglyphics	4621	MYH3	ORPHA:2053
HP:0007477	Abnormal dermatoglyphics	259232	NALCN	ORPHA:2053
HP:0007477	Abnormal dermatoglyphics	54101	RIPK4	OMIM:263650
HP:0007477	Abnormal dermatoglyphics	92949	ADAMTSL1	ORPHA:521445
HP:0007477	Abnormal dermatoglyphics	22884	WDR37	OMIM:618652
HP:0007477	Abnormal dermatoglyphics	7750	ZMYM2	OMIM:619522
HP:0007477	Abnormal dermatoglyphics	7528	YY1	ORPHA:506358
HP:0000260	Wide anterior fontanel	10682	EBP	ORPHA:401973
HP:0000260	Wide anterior fontanel	4921	DDR2	OMIM:271665
HP:0000260	Wide anterior fontanel	5648	MASP1	OMIM:257920
HP:0000260	Wide anterior fontanel	9526	MPDU1	OMIM:609180
HP:0000260	Wide anterior fontanel	9526	MPDU1	ORPHA:79323
HP:0000260	Wide anterior fontanel	1277	COL1A1	OMIM:259420
HP:0000260	Wide anterior fontanel	1278	COL1A2	OMIM:259420
HP:0000260	Wide anterior fontanel	5447	POR	ORPHA:95699
HP:0000260	Wide anterior fontanel	5447	POR	OMIM:207410
HP:0000260	Wide anterior fontanel	2737	GLI3	ORPHA:36
HP:0000260	Wide anterior fontanel	374654	KIF7	ORPHA:36
HP:0000260	Wide anterior fontanel	374654	KIF7	OMIM:200990
HP:0000260	Wide anterior fontanel	4281	MID1	OMIM:300000
HP:0000260	Wide anterior fontanel	4920	ROR2	OMIM:113000
HP:0000260	Wide anterior fontanel	4920	ROR2	OMIM:268310
HP:0000260	Wide anterior fontanel	2263	FGFR2	OMIM:207410
HP:0000260	Wide anterior fontanel	169792	GLIS3	OMIM:610199
HP:0000260	Wide anterior fontanel	6662	SOX9	OMIM:114290
HP:0000260	Wide anterior fontanel	5189	PEX1	OMIM:214100
HP:0000260	Wide anterior fontanel	5189	PEX1	ORPHA:44
HP:0000260	Wide anterior fontanel	5189	PEX1	ORPHA:912
HP:0000260	Wide anterior fontanel	29957	SLC25A24	ORPHA:2963
HP:0000260	Wide anterior fontanel	29957	SLC25A24	OMIM:612289
HP:0000260	Wide anterior fontanel	64175	P3H1	OMIM:610915
HP:0000260	Wide anterior fontanel	170302	ARX	OMIM:300215
HP:0000260	Wide anterior fontanel	25915	NDUFAF3	OMIM:618240
HP:0000260	Wide anterior fontanel	8260	NAA10	OMIM:300855
HP:0000260	Wide anterior fontanel	2261	FGFR3	ORPHA:1860
HP:0000260	Wide anterior fontanel	2261	FGFR3	ORPHA:15
HP:0000260	Wide anterior fontanel	2261	FGFR3	OMIM:616482
HP:0000260	Wide anterior fontanel	1147	CHUK	OMIM:619339
HP:0000260	Wide anterior fontanel	1009	CDH11	OMIM:619736
HP:0000260	Wide anterior fontanel	7490	WT1	OMIM:194080
HP:0000260	Wide anterior fontanel	9377	COX5A	OMIM:619064
HP:0000260	Wide anterior fontanel	7703	PCGF2	OMIM:618371
HP:0000260	Wide anterior fontanel	9401	RECQL4	OMIM:218600
HP:0000260	Wide anterior fontanel	10484	SEC23A	OMIM:607812
HP:0000260	Wide anterior fontanel	9509	ADAMTS2	OMIM:225410
HP:0000260	Wide anterior fontanel	1301	COL11A1	OMIM:228520
HP:0000260	Wide anterior fontanel	1301	COL11A1	ORPHA:2021
HP:0000260	Wide anterior fontanel	79796	ALG9	OMIM:263210
HP:0000260	Wide anterior fontanel	79796	ALG9	ORPHA:79328
HP:0000260	Wide anterior fontanel	23545	ATP6V0A2	OMIM:278250
HP:0000260	Wide anterior fontanel	23545	ATP6V0A2	OMIM:219200
HP:0000260	Wide anterior fontanel	2475	MTOR	OMIM:616638
HP:0000260	Wide anterior fontanel	79633	FAT4	OMIM:615546
HP:0000260	Wide anterior fontanel	4036	LRP2	ORPHA:2143
HP:0000260	Wide anterior fontanel	4036	LRP2	OMIM:222448
HP:0000260	Wide anterior fontanel	1302	COL11A2	ORPHA:2021
HP:0000260	Wide anterior fontanel	8642	DCHS1	OMIM:601390
HP:0000260	Wide anterior fontanel	5193	PEX12	OMIM:614859
HP:0000260	Wide anterior fontanel	5193	PEX12	ORPHA:44
HP:0000260	Wide anterior fontanel	5193	PEX12	ORPHA:912
HP:0000260	Wide anterior fontanel	3265	HRAS	OMIM:218040
HP:0000260	Wide anterior fontanel	26040	SETBP1	ORPHA:798
HP:0000260	Wide anterior fontanel	3981	LIG4	ORPHA:235
HP:0000260	Wide anterior fontanel	54888	NSUN2	ORPHA:235
HP:0000260	Wide anterior fontanel	145173	B3GLCT	OMIM:261540
HP:0000260	Wide anterior fontanel	56006	SMG9	OMIM:616920
HP:0000260	Wide anterior fontanel	1387	CREBBP	OMIM:180849
HP:0000260	Wide anterior fontanel	2033	EP300	OMIM:180849
HP:0000260	Wide anterior fontanel	5828	PEX2	OMIM:614866
HP:0000260	Wide anterior fontanel	5828	PEX2	ORPHA:44
HP:0000260	Wide anterior fontanel	5828	PEX2	ORPHA:912
HP:0000260	Wide anterior fontanel	9091	PIGQ	OMIM:618548
HP:0000260	Wide anterior fontanel	25839	COG4	OMIM:618150
HP:0000260	Wide anterior fontanel	23405	DICER1	OMIM:618272
HP:0000260	Wide anterior fontanel	285590	SH3PXD2B	OMIM:249420
HP:0000260	Wide anterior fontanel	8318	CDC45	OMIM:617063
HP:0000260	Wide anterior fontanel	28952	CCDC22	OMIM:300963
HP:0000260	Wide anterior fontanel	55670	PEX26	OMIM:614872
HP:0000260	Wide anterior fontanel	55670	PEX26	ORPHA:44
HP:0000260	Wide anterior fontanel	55670	PEX26	ORPHA:912
HP:0000260	Wide anterior fontanel	7291	TWIST1	OMIM:617746
HP:0000260	Wide anterior fontanel	9968	MED12	OMIM:305450
HP:0000260	Wide anterior fontanel	388015	RTL1	ORPHA:96334
HP:0000260	Wide anterior fontanel	8788	DLK1	ORPHA:96334
HP:0000260	Wide anterior fontanel	55384	MEG3	ORPHA:96334
HP:0000260	Wide anterior fontanel	2316	FLNA	OMIM:304120
HP:0000260	Wide anterior fontanel	63895	PIEZO2	OMIM:248700
HP:0000260	Wide anterior fontanel	6497	SKI	OMIM:182212
HP:0000260	Wide anterior fontanel	5824	PEX19	ORPHA:44
HP:0000260	Wide anterior fontanel	5824	PEX19	OMIM:614886
HP:0000260	Wide anterior fontanel	5824	PEX19	ORPHA:912
HP:0000260	Wide anterior fontanel	8504	PEX3	ORPHA:44
HP:0000260	Wide anterior fontanel	8504	PEX3	ORPHA:912
HP:0000260	Wide anterior fontanel	9409	PEX16	ORPHA:44
HP:0000260	Wide anterior fontanel	9409	PEX16	ORPHA:912
HP:0000260	Wide anterior fontanel	5190	PEX6	ORPHA:44
HP:0000260	Wide anterior fontanel	5190	PEX6	ORPHA:912
HP:0000260	Wide anterior fontanel	8799	PEX11B	ORPHA:44
HP:0000260	Wide anterior fontanel	8799	PEX11B	ORPHA:912
HP:0000260	Wide anterior fontanel	5830	PEX5	ORPHA:44
HP:0000260	Wide anterior fontanel	5830	PEX5	ORPHA:912
HP:0000260	Wide anterior fontanel	5194	PEX13	ORPHA:44
HP:0000260	Wide anterior fontanel	5194	PEX13	OMIM:614883
HP:0000260	Wide anterior fontanel	5194	PEX13	ORPHA:912
HP:0000260	Wide anterior fontanel	5195	PEX14	ORPHA:44
HP:0000260	Wide anterior fontanel	5195	PEX14	ORPHA:912
HP:0000260	Wide anterior fontanel	5192	PEX10	ORPHA:44
HP:0000260	Wide anterior fontanel	5192	PEX10	ORPHA:912
HP:0000260	Wide anterior fontanel	57020	VPS35L	OMIM:619135
HP:0000260	Wide anterior fontanel	5528	PPP2R5D	ORPHA:457279
HP:0000260	Wide anterior fontanel	10661	KLF1	OMIM:613673
HP:0000260	Wide anterior fontanel	84168	ANTXR1	OMIM:230740
HP:0000260	Wide anterior fontanel	10491	CRTAP	OMIM:610682
HP:0000260	Wide anterior fontanel	4052	LTBP1	ORPHA:90349
HP:0000260	Wide anterior fontanel	30008	EFEMP2	ORPHA:90349
HP:0000260	Wide anterior fontanel	10516	FBLN5	ORPHA:90349
HP:0000260	Wide anterior fontanel	10269	ZMPSTE24	OMIM:275210
HP:0000260	Wide anterior fontanel	7474	WNT5A	OMIM:180700
HP:0000260	Wide anterior fontanel	1855	DVL1	OMIM:180700
HP:0000260	Wide anterior fontanel	56160	NSMCE3	OMIM:617241
HP:0000260	Wide anterior fontanel	9742	IFT140	OMIM:266920
HP:0000260	Wide anterior fontanel	10736	SIX2	ORPHA:488437
HP:0000260	Wide anterior fontanel	25871	NEPRO	OMIM:618853
HP:0000260	Wide anterior fontanel	27152	INTU	OMIM:617925
HP:0000260	Wide anterior fontanel	7252	TSHB	OMIM:275100
HP:0000260	Wide anterior fontanel	6888	TALDO1	OMIM:606003
HP:0000260	Wide anterior fontanel	2108	ETFA	OMIM:231680
HP:0000260	Wide anterior fontanel	2109	ETFB	OMIM:231680
HP:0000260	Wide anterior fontanel	2110	ETFDH	OMIM:231680
HP:0000260	Wide anterior fontanel	865	CBFB	OMIM:620099
HP:0000263	Oxycephaly	7291	TWIST1	OMIM:123100
HP:0000263	Oxycephaly	7291	TWIST1	OMIM:101400
HP:0000263	Oxycephaly	2263	FGFR2	OMIM:101400
HP:0000263	Oxycephaly	9401	RECQL4	OMIM:218600
HP:0000263	Oxycephaly	1954	MEGF8	OMIM:614976
HP:0000263	Oxycephaly	1954	MEGF8	ORPHA:65759
HP:0000263	Oxycephaly	51715	RAB23	ORPHA:65759
HP:0000263	Oxycephaly	55553	SOX6	OMIM:618971
HP:0000263	Oxycephaly	3590	IL11RA	OMIM:614188
HP:0000264	Abnormal mastoid morphology	1747	DLX3	ORPHA:3352
HP:0000264	Abnormal mastoid morphology	1747	DLX3	OMIM:190320
HP:0000264	Abnormal mastoid morphology	4683	NBN	OMIM:251260
HP:0000264	Abnormal mastoid morphology	10892	MALT1	OMIM:615468
HP:0000264	Abnormal mastoid morphology	5896	RAG1	OMIM:601457
HP:0000264	Abnormal mastoid morphology	5897	RAG2	OMIM:601457
HP:0000264	Abnormal mastoid morphology	23516	SLC39A14	OMIM:144755
HP:0000264	Abnormal mastoid morphology	7174	TPP2	OMIM:619220
HP:0000264	Abnormal mastoid morphology	5075	PAX1	OMIM:615560
HP:0000264	Abnormal mastoid morphology	1513	CTSK	ORPHA:763
HP:0000264	Abnormal mastoid morphology	1009	CDH11	ORPHA:1299
HP:0000265	Mastoiditis	4683	NBN	OMIM:251260
HP:0000265	Mastoiditis	10892	MALT1	OMIM:615468
HP:0000265	Mastoiditis	5896	RAG1	OMIM:601457
HP:0000265	Mastoiditis	5897	RAG2	OMIM:601457
HP:0000265	Mastoiditis	23516	SLC39A14	OMIM:144755
HP:0000265	Mastoiditis	7174	TPP2	OMIM:619220
HP:0000265	Mastoiditis	5075	PAX1	OMIM:615560
HP:0000267	Cranial asymmetry	5727	PTCH1	OMIM:610828
HP:0000267	Cranial asymmetry	84282	RNF135	ORPHA:137634
HP:0000267	Cranial asymmetry	5824	PEX19	OMIM:614886
HP:0000267	Cranial asymmetry	5290	PIK3CA	ORPHA:99802
HP:0000267	Cranial asymmetry	2475	MTOR	ORPHA:99802
HP:0000267	Cranial asymmetry	10000	AKT3	ORPHA:99802
HP:0000267	Cranial asymmetry	3845	KRAS	OMIM:163200
HP:0000267	Cranial asymmetry	4893	NRAS	OMIM:163200
HP:0000267	Cranial asymmetry	3265	HRAS	OMIM:163200
HP:0000267	Cranial asymmetry	11128	POLR3A	ORPHA:3455
HP:0000267	Cranial asymmetry	4094	MAF	OMIM:601088
HP:0000267	Cranial asymmetry	53834	FGFRL1	OMIM:194190
HP:0000267	Cranial asymmetry	1487	CTBP1	OMIM:194190
HP:0000267	Cranial asymmetry	3954	LETM1	OMIM:194190
HP:0000267	Cranial asymmetry	7468	NSD2	OMIM:194190
HP:0000267	Cranial asymmetry	10815	CPLX1	OMIM:194190
HP:0007428	Telangiectasia of the oral mucosa	4668	NAGA	ORPHA:79280
HP:0007428	Telangiectasia of the oral mucosa	4668	NAGA	OMIM:609242
HP:0007429	Few cafe-au-lait spots	2783	GNB2	OMIM:619503
HP:0007429	Few cafe-au-lait spots	6418	SET	OMIM:618106
HP:0007429	Few cafe-au-lait spots	5932	RBBP8	OMIM:606744
HP:0007429	Few cafe-au-lait spots	9319	TRIP13	OMIM:617598
HP:0007429	Few cafe-au-lait spots	673	BRAF	OMIM:613707
HP:0007427	Reticulated skin pigmentation	55651	NHP2	OMIM:613987
HP:0007427	Reticulated skin pigmentation	3861	KRT14	ORPHA:69087
HP:0007427	Reticulated skin pigmentation	3861	KRT14	ORPHA:79397
HP:0007427	Reticulated skin pigmentation	1736	DKC1	OMIM:305000
HP:0007427	Reticulated skin pigmentation	3852	KRT5	ORPHA:79397
HP:0007427	Reticulated skin pigmentation	7015	TERT	OMIM:613989
HP:0007427	Reticulated skin pigmentation	26277	TINF2	OMIM:613990
HP:0010486	Abnormality of the hypothenar eminence	29926	GMPPA	ORPHA:869
HP:0010486	Abnormality of the hypothenar eminence	60684	TRAPPC11	ORPHA:869
HP:0010486	Abnormality of the hypothenar eminence	8086	AAAS	ORPHA:869
HP:0010486	Abnormality of the hypothenar eminence	6135	RPL11	OMIM:612562
HP:0010486	Abnormality of the hypothenar eminence	9775	EIF4A3	OMIM:268305
HP:0010486	Abnormality of the hypothenar eminence	121512	FGD4	OMIM:609311
HP:0010488	Aplasia/Hypoplasia of the palmar creases	113189	CHST14	ORPHA:2953
HP:0010488	Aplasia/Hypoplasia of the palmar creases	29940	DSE	ORPHA:2953
HP:0010488	Aplasia/Hypoplasia of the palmar creases	26053	AUTS2	OMIM:615834
HP:0010488	Aplasia/Hypoplasia of the palmar creases	26053	AUTS2	ORPHA:352490
HP:0010488	Aplasia/Hypoplasia of the palmar creases	63895	PIEZO2	OMIM:108145
HP:0010488	Aplasia/Hypoplasia of the palmar creases	8985	PLOD3	OMIM:612394
HP:0010488	Aplasia/Hypoplasia of the palmar creases	4927	NUP88	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	7846	TUBA1A	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	4654	MYOD1	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	4593	MUSK	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	5913	RAPSN	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	6572	SLC18A3	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	285489	DOK7	ORPHA:994
HP:0010488	Aplasia/Hypoplasia of the palmar creases	91252	SLC39A13	ORPHA:157965
HP:0010488	Aplasia/Hypoplasia of the palmar creases	4621	MYH3	ORPHA:2053
HP:0010488	Aplasia/Hypoplasia of the palmar creases	259232	NALCN	ORPHA:2053
HP:0010488	Aplasia/Hypoplasia of the palmar creases	54101	RIPK4	OMIM:263650
HP:0010489	Absent palmar crease	4927	NUP88	ORPHA:994
HP:0010489	Absent palmar crease	7846	TUBA1A	ORPHA:994
HP:0010489	Absent palmar crease	4654	MYOD1	ORPHA:994
HP:0010489	Absent palmar crease	4593	MUSK	ORPHA:994
HP:0010489	Absent palmar crease	5913	RAPSN	ORPHA:994
HP:0010489	Absent palmar crease	6572	SLC18A3	ORPHA:994
HP:0010489	Absent palmar crease	285489	DOK7	ORPHA:994
HP:0010489	Absent palmar crease	91252	SLC39A13	ORPHA:157965
HP:0010489	Absent palmar crease	63895	PIEZO2	ORPHA:1154
HP:0010489	Absent palmar crease	4621	MYH3	ORPHA:2053
HP:0010489	Absent palmar crease	259232	NALCN	ORPHA:2053
HP:0010489	Absent palmar crease	54101	RIPK4	OMIM:263650
HP:0010481	Urethral valve	6299	SALL1	OMIM:107480
HP:0010481	Urethral valve	6299	SALL1	ORPHA:857
HP:0010481	Urethral valve	51339	DACT1	ORPHA:857
HP:0010481	Urethral valve	60495	HPSE2	OMIM:236730
HP:0010481	Urethral valve	3481	IGF2	OMIM:180860
HP:0010481	Urethral valve	3187	HNRNPH1	OMIM:620083
HP:0010481	Urethral valve	54796	BNC2	OMIM:618612
HP:0010481	Urethral valve	54796	BNC2	ORPHA:93110
HP:0010481	Urethral valve	10847	SRCAP	ORPHA:2044
HP:0010481	Urethral valve	10847	SRCAP	OMIM:136140
HP:0010481	Urethral valve	4281	MID1	OMIM:300000
HP:0010481	Urethral valve	1131	CHRM3	ORPHA:2970
HP:0010481	Urethral valve	1131	CHRM3	OMIM:100100
HP:0010481	Urethral valve	64324	NSD1	ORPHA:821
HP:0010481	Urethral valve	29072	SETD2	ORPHA:821
HP:0010481	Urethral valve	10297	APC2	ORPHA:821
HP:0010480	Urethral fistula	197131	UBR1	OMIM:243800
HP:0010480	Urethral fistula	55112	DYNC2I1	ORPHA:93271
HP:0010480	Urethral fistula	57560	IFT80	ORPHA:93271
HP:0010480	Urethral fistula	57539	WDR35	ORPHA:93271
HP:0010480	Urethral fistula	79659	DYNC2H1	ORPHA:93271
HP:0010480	Urethral fistula	89891	DYNC2I2	ORPHA:93271
HP:0010480	Urethral fistula	267010	RNU12	OMIM:603116
HP:0010480	Urethral fistula	4281	MID1	OMIM:300000
HP:0010485	Hyperextensibility at elbow	23261	CAMTA1	OMIM:614756
HP:0010485	Hyperextensibility at elbow	4297	KMT2A	ORPHA:319182
HP:0010485	Hyperextensibility at elbow	387733	IFITM5	OMIM:610967
HP:0010485	Hyperextensibility at elbow	6651	SON	ORPHA:500150
HP:0010485	Hyperextensibility at elbow	1289	COL5A1	OMIM:130000
HP:0010485	Hyperextensibility at elbow	3373	HYAL1	OMIM:601492
HP:0010484	Hypertrophy of the upper limb	5921	RASA1	ORPHA:90307
HP:0030897	Decreased intestinal transit time	79827	CLMP	OMIM:615237
HP:0030897	Decreased intestinal transit time	55107	ANO1	OMIM:620045
HP:0007430	Generalized edema	57107	PDSS2	ORPHA:255249
HP:0007430	Generalized edema	27235	COQ2	ORPHA:255249
HP:0007430	Generalized edema	4638	MYLK	OMIM:249210
HP:0007430	Generalized edema	285489	DOK7	OMIM:618389
HP:0007430	Generalized edema	79989	IFT56	OMIM:619534
HP:0007430	Generalized edema	9722	NOS1AP	OMIM:619155
HP:0007430	Generalized edema	9780	PIEZO1	OMIM:616843
HP:0007430	Generalized edema	54916	TMEM260	OMIM:617478
HP:0007430	Generalized edema	7841	MOGS	OMIM:606056
HP:0007430	Generalized edema	7841	MOGS	ORPHA:79330
HP:0007430	Generalized edema	2492	FSHR	ORPHA:64739
HP:0007430	Generalized edema	5551	PRF1	OMIM:603553
HP:0007430	Generalized edema	197131	UBR1	OMIM:243800
HP:0007430	Generalized edema	1604	CD55	OMIM:226300
HP:0007430	Generalized edema	10203	CALCRL	OMIM:618773
HP:0007430	Generalized edema	396	ARHGDIA	OMIM:615244
HP:0007430	Generalized edema	3075	CFH	ORPHA:244242
HP:0007430	Generalized edema	3426	CFI	ORPHA:244242
HP:0007430	Generalized edema	4179	CD46	ORPHA:244242
HP:0007430	Generalized edema	101101692	HELLPAR	ORPHA:244242
HP:0007430	Generalized edema	26227	PHGDH	OMIM:256520
HP:0007430	Generalized edema	83483	PLVAP	OMIM:618183
HP:0007430	Generalized edema	5373	PMM2	ORPHA:79318
HP:0007430	Generalized edema	1798	DPAGT1	ORPHA:86309
HP:0007430	Generalized edema	51422	PRKAG2	OMIM:261740
HP:0007430	Generalized edema	50619	DEF6	OMIM:619573
HP:0007430	Generalized edema	950	SCARB2	OMIM:254900
HP:0007430	Generalized edema	10056	FARSB	OMIM:613658
HP:0007430	Generalized edema	5428	POLG	OMIM:203700
HP:0007431	Congenital ichthyosiform erythroderma	242	ALOX12B	OMIM:242100
HP:0007431	Congenital ichthyosiform erythroderma	59344	ALOXE3	OMIM:242100
HP:0007431	Congenital ichthyosiform erythroderma	6768	ST14	OMIM:602400
HP:0007431	Congenital ichthyosiform erythroderma	50814	NSDHL	OMIM:308050
HP:0007431	Congenital ichthyosiform erythroderma	10682	EBP	OMIM:302960
HP:0007431	Congenital ichthyosiform erythroderma	7051	TGM1	OMIM:242300
HP:0007431	Congenital ichthyosiform erythroderma	10804	GJB6	ORPHA:477
HP:0007431	Congenital ichthyosiform erythroderma	2706	GJB2	ORPHA:477
HP:0007431	Congenital ichthyosiform erythroderma	26154	ABCA12	OMIM:242500
HP:0007431	Congenital ichthyosiform erythroderma	26154	ABCA12	ORPHA:457
HP:0007431	Congenital ichthyosiform erythroderma	404672	GTF2H5	OMIM:616395
HP:0007431	Congenital ichthyosiform erythroderma	412	STS	OMIM:308100
HP:0007431	Congenital ichthyosiform erythroderma	3858	KRT10	ORPHA:312
HP:0007431	Congenital ichthyosiform erythroderma	3858	KRT10	OMIM:607602
HP:0007431	Congenital ichthyosiform erythroderma	3848	KRT1	ORPHA:312
HP:0007431	Congenital ichthyosiform erythroderma	3848	KRT1	OMIM:113800
HP:0007431	Congenital ichthyosiform erythroderma	3849	KRT2	OMIM:146800
HP:0007431	Congenital ichthyosiform erythroderma	3868	KRT16	OMIM:613000
HP:0007431	Congenital ichthyosiform erythroderma	126410	CYP4F22	OMIM:604777
HP:0007431	Congenital ichthyosiform erythroderma	6820	SULT2B1	OMIM:617571
HP:0007431	Congenital ichthyosiform erythroderma	348938	NIPAL4	OMIM:612281
HP:0007431	Congenital ichthyosiform erythroderma	2629	GBA1	ORPHA:85212
HP:0007431	Congenital ichthyosiform erythroderma	2629	GBA1	OMIM:608013
HP:0007431	Congenital ichthyosiform erythroderma	51099	ABHD5	ORPHA:98907
HP:0007431	Congenital ichthyosiform erythroderma	51099	ABHD5	OMIM:275630
HP:0007431	Congenital ichthyosiform erythroderma	6897	TARS1	OMIM:618546
HP:0007431	Congenital ichthyosiform erythroderma	51371	POMP	OMIM:601952
HP:0007431	Congenital ichthyosiform erythroderma	2071	ERCC3	OMIM:616390
HP:0007431	Congenital ichthyosiform erythroderma	2068	ERCC2	OMIM:601675
HP:0007431	Congenital ichthyosiform erythroderma	204219	CERS3	OMIM:615023
HP:0007431	Congenital ichthyosiform erythroderma	285848	PNPLA1	OMIM:615024
HP:0007431	Congenital ichthyosiform erythroderma	11005	SPINK5	OMIM:256500
HP:0007431	Congenital ichthyosiform erythroderma	11005	SPINK5	ORPHA:634
HP:0007431	Congenital ichthyosiform erythroderma	151516	ASPRV1	OMIM:146750
HP:0007431	Congenital ichthyosiform erythroderma	6785	ELOVL4	OMIM:614457
HP:0007431	Congenital ichthyosiform erythroderma	2531	KDSR	OMIM:617526
HP:0007431	Congenital ichthyosiform erythroderma	4014	LORICRIN	ORPHA:79395
HP:0007432	Intermittent generalized erythematous papular rash	3939	LDHA	ORPHA:284426
HP:0007432	Intermittent generalized erythematous papular rash	64127	NOD2	OMIM:186580
HP:0000271	Abnormality of the face	6948	TCN2	OMIM:275350
HP:0000271	Abnormality of the face	114327	EFHC1	ORPHA:307
HP:0000271	Abnormality of the face	114327	EFHC1	ORPHA:1941
HP:0000271	Abnormality of the face	2554	GABRA1	ORPHA:307
HP:0000271	Abnormality of the face	3786	KCNQ3	ORPHA:307
HP:0000271	Abnormality of the face	8629	JRK	ORPHA:307
HP:0000271	Abnormality of the face	785	CACNB4	ORPHA:307
HP:0000271	Abnormality of the face	9378	NRXN1	OMIM:614325
HP:0000271	Abnormality of the face	5970	RELA	OMIM:618287
HP:0000271	Abnormality of the face	7128	TNFAIP3	OMIM:616744
HP:0000271	Abnormality of the face	6696	SPP1	ORPHA:93552
HP:0000271	Abnormality of the face	3654	IRAK1	ORPHA:93552
HP:0000271	Abnormality of the face	3575	IL7R	OMIM:608971
HP:0000271	Abnormality of the face	3575	IL7R	ORPHA:169154
HP:0000271	Abnormality of the face	51284	TLR7	OMIM:301080
HP:0000271	Abnormality of the face	2000	ELF4	OMIM:301074
HP:0000271	Abnormality of the face	8737	RIPK1	OMIM:618852
HP:0000271	Abnormality of the face	939	CD27	OMIM:615122
HP:0000271	Abnormality of the face	3587	IL10RA	OMIM:613148
HP:0000271	Abnormality of the face	51422	PRKAG2	OMIM:261740
HP:0000271	Abnormality of the face	346171	ZFP57	ORPHA:99886
HP:0000271	Abnormality of the face	112812	FDX2	OMIM:251900
HP:0000271	Abnormality of the face	57570	TRMT5	OMIM:616539
HP:0000271	Abnormality of the face	3735	KARS1	OMIM:619147
HP:0000271	Abnormality of the face	221692	PHACTR1	OMIM:618298
HP:0000271	Abnormality of the face	4982	TNFRSF11B	ORPHA:2801
HP:0000271	Abnormality of the face	11107	PRDM5	ORPHA:90354
HP:0000271	Abnormality of the face	23586	RIGI	OMIM:616298
HP:0000271	Abnormality of the face	189	AGXT	ORPHA:93598
HP:0000271	Abnormality of the face	79983	POF1B	OMIM:300604
HP:0000271	Abnormality of the face	60681	FKBP10	OMIM:259450
HP:0000271	Abnormality of the face	4014	LORICRIN	OMIM:604117
HP:0000271	Abnormality of the face	65057	ACD	OMIM:616553
HP:0000271	Abnormality of the face	3229	HOXC13	OMIM:614931
HP:0000271	Abnormality of the face	7852	CXCR4	ORPHA:51636
HP:0000271	Abnormality of the face	1027	CDKN1B	ORPHA:652
HP:0000271	Abnormality of the face	1026	CDKN1A	ORPHA:652
HP:0000271	Abnormality of the face	1030	CDKN2B	ORPHA:652
HP:0000271	Abnormality of the face	1031	CDKN2C	ORPHA:652
HP:0000271	Abnormality of the face	91452	ACBD5	OMIM:618863
HP:0000271	Abnormality of the face	50619	DEF6	OMIM:619573
HP:0000271	Abnormality of the face	8883	NAE1	OMIM:620210
HP:0000271	Abnormality of the face	2254	FGF9	OMIM:612961
HP:0000271	Abnormality of the face	55640	FLVCR2	OMIM:225790
HP:0000271	Abnormality of the face	90416	CCDC32	OMIM:619123
HP:0000271	Abnormality of the face	124454	EARS2	OMIM:614924
HP:0000271	Abnormality of the face	2294	FOXF1	OMIM:265380
HP:0000271	Abnormality of the face	6399	TRAPPC2	ORPHA:93284
HP:0000271	Abnormality of the face	392255	GDF6	OMIM:118100
HP:0000271	Abnormality of the face	392255	GDF6	ORPHA:2345
HP:0000271	Abnormality of the face	4519	MT-CYB	ORPHA:137675
HP:0000271	Abnormality of the face	2625	GATA3	ORPHA:2237
HP:0000271	Abnormality of the face	9573	GDF3	ORPHA:2345
HP:0000271	Abnormality of the face	2122	MECOM	OMIM:616738
HP:0000271	Abnormality of the face	23395	LARS2	OMIM:615300
HP:0000271	Abnormality of the face	367	AR	ORPHA:95706
HP:0000271	Abnormality of the face	3199	HOXA2	OMIM:612290
HP:0000271	Abnormality of the face	93986	FOXP2	ORPHA:209908
HP:0000271	Abnormality of the face	55149	MTPAP	ORPHA:254343
HP:0000271	Abnormality of the face	60386	SLC25A19	ORPHA:99742
HP:0000271	Abnormality of the face	9524	TECR	OMIM:614020
HP:0000271	Abnormality of the face	1147	CHUK	OMIM:619339
HP:0000271	Abnormality of the face	85465	SELENOI	ORPHA:506353
HP:0000271	Abnormality of the face	85465	SELENOI	OMIM:618768
HP:0000271	Abnormality of the face	23498	HAAO	OMIM:617660
HP:0000271	Abnormality of the face	84892	POMGNT2	ORPHA:899
HP:0000271	Abnormality of the face	148789	B3GALNT2	ORPHA:899
HP:0000271	Abnormality of the face	10329	RXYLT1	ORPHA:899
HP:0000271	Abnormality of the face	1605	DAG1	ORPHA:899
HP:0000271	Abnormality of the face	11041	B4GAT1	ORPHA:899
HP:0000271	Abnormality of the face	84197	POMK	ORPHA:899
HP:0000271	Abnormality of the face	8452	CUL3	OMIM:619239
HP:0000271	Abnormality of the face	1460	CSNK2B	OMIM:618732
HP:0000271	Abnormality of the face	347734	SLC35B2	OMIM:620269
HP:0000271	Abnormality of the face	5236	PGM1	OMIM:614921
HP:0000271	Abnormality of the face	81839	VANGL1	ORPHA:3027
HP:0000271	Abnormality of the face	80199	FUZ	ORPHA:3027
HP:0000271	Abnormality of the face	2767	GNA11	ORPHA:1556
HP:0000271	Abnormality of the face	151188	ARL6IP6	ORPHA:1556
HP:0000271	Abnormality of the face	8802	SUCLG1	ORPHA:17
HP:0000271	Abnormality of the face	57514	ARHGAP31	OMIM:100300
HP:0000271	Abnormality of the face	10413	YAP1	OMIM:120433
HP:0000271	Abnormality of the face	4222	MEOX1	OMIM:214300
HP:0000271	Abnormality of the face	11023	VAX1	OMIM:614402
HP:0000271	Abnormality of the face	113235	SLC46A1	ORPHA:90045
HP:0000271	Abnormality of the face	716	C1S	ORPHA:75392
HP:0000271	Abnormality of the face	715	C1R	ORPHA:75392
HP:0000271	Abnormality of the face	54757	FAM20A	OMIM:204690
HP:0000271	Abnormality of the face	54757	FAM20A	ORPHA:1031
HP:0000271	Abnormality of the face	5978	REST	ORPHA:2024
HP:0000271	Abnormality of the face	2776	GNAQ	ORPHA:3205
HP:0000271	Abnormality of the face	9071	CLDN10	OMIM:617671
HP:0000271	Abnormality of the face	64834	ELOVL1	OMIM:618527
HP:0000271	Abnormality of the face	25978	CHMP2B	ORPHA:803
HP:0000271	Abnormality of the face	3178	HNRNPA1	ORPHA:803
HP:0000271	Abnormality of the face	8148	TAF15	ORPHA:803
HP:0000271	Abnormality of the face	5445	PON2	ORPHA:803
HP:0000271	Abnormality of the face	9217	VAPB	ORPHA:803
HP:0000271	Abnormality of the face	5630	PRPH	ORPHA:803
HP:0000271	Abnormality of the face	29110	TBK1	ORPHA:803
HP:0000271	Abnormality of the face	55830	GLT8D1	ORPHA:803
HP:0000271	Abnormality of the face	755	CFAP410	ORPHA:803
HP:0000271	Abnormality of the face	10891	PPARGC1A	ORPHA:803
HP:0000271	Abnormality of the face	6647	SOD1	ORPHA:803
HP:0000271	Abnormality of the face	5444	PON1	ORPHA:803
HP:0000271	Abnormality of the face	5446	PON3	ORPHA:803
HP:0000271	Abnormality of the face	4744	NEFH	ORPHA:803
HP:0000271	Abnormality of the face	5216	PFN1	ORPHA:803
HP:0000271	Abnormality of the face	9782	MATR3	ORPHA:803
HP:0000271	Abnormality of the face	54209	TREM2	ORPHA:803
HP:0000271	Abnormality of the face	283	ANG	ORPHA:803
HP:0000271	Abnormality of the face	23435	TARDBP	ORPHA:803
HP:0000271	Abnormality of the face	29978	UBQLN2	ORPHA:803
HP:0000271	Abnormality of the face	2521	FUS	ORPHA:803
HP:0000271	Abnormality of the face	2043	EPHA4	ORPHA:803
HP:0000271	Abnormality of the face	1610	DAO	ORPHA:803
HP:0000271	Abnormality of the face	2066	ERBB4	ORPHA:803
HP:0000271	Abnormality of the face	23025	UNC13A	ORPHA:803
HP:0000271	Abnormality of the face	899	CCNF	ORPHA:803
HP:0000271	Abnormality of the face	1131	CHRM3	OMIM:100100
HP:0000271	Abnormality of the face	6558	SLC12A2	OMIM:619080
HP:0000271	Abnormality of the face	1235	CCR6	ORPHA:220393
HP:0000271	Abnormality of the face	1490	CCN2	ORPHA:220393
HP:0000271	Abnormality of the face	3663	IRF5	ORPHA:220393
HP:0000271	Abnormality of the face	875	CBS	ORPHA:394
HP:0000271	Abnormality of the face	875	CBS	OMIM:236200
HP:0000271	Abnormality of the face	79140	CCDC28B	OMIM:209900
HP:0000271	Abnormality of the face	8550	MAPKAPK5	OMIM:619869
HP:0000271	Abnormality of the face	23259	DDHD2	OMIM:615033
HP:0000271	Abnormality of the face	23259	DDHD2	ORPHA:320380
HP:0000271	Abnormality of the face	163175	LGI4	OMIM:617468
HP:0000271	Abnormality of the face	11160	ERLIN2	ORPHA:280384
HP:0000271	Abnormality of the face	11160	ERLIN2	OMIM:611225
HP:0000271	Abnormality of the face	11160	ERLIN2	ORPHA:209951
HP:0000271	Abnormality of the face	8076	MFAP5	OMIM:616166
HP:0000271	Abnormality of the face	51434	ANAPC7	OMIM:619699
HP:0000271	Abnormality of the face	84068	SLC10A7	OMIM:618363
HP:0000271	Abnormality of the face	55687	TRMU	ORPHA:254864
HP:0000271	Abnormality of the face	9758	FRMPD4	OMIM:300983
HP:0000271	Abnormality of the face	9325	TRIP4	OMIM:617066
HP:0000271	Abnormality of the face	9325	TRIP4	ORPHA:486815
HP:0000271	Abnormality of the face	9325	TRIP4	OMIM:616866
HP:0000271	Abnormality of the face	368	ABCC6	ORPHA:758
HP:0000271	Abnormality of the face	368	ABCC6	OMIM:177850
HP:0000271	Abnormality of the face	65055	REEP1	OMIM:620011
HP:0000271	Abnormality of the face	5784	PTPN14	OMIM:613611
HP:0000271	Abnormality of the face	26153	KIF26A	OMIM:620156
HP:0000271	Abnormality of the face	1272	CNTN1	OMIM:612540
HP:0000271	Abnormality of the face	92579	G6PC3	OMIM:612541
HP:0000271	Abnormality of the face	10056	FARSB	OMIM:613658
HP:0000271	Abnormality of the face	79759	ZNF668	OMIM:620194
HP:0000271	Abnormality of the face	2782	GNB1	OMIM:616973
HP:0000271	Abnormality of the face	2782	GNB1	ORPHA:488613
HP:0000271	Abnormality of the face	760	CA2	ORPHA:2785
HP:0000271	Abnormality of the face	8270	LAGE3	OMIM:301006
HP:0000271	Abnormality of the face	79875	THSD4	OMIM:619825
HP:0000271	Abnormality of the face	4053	LTBP2	OMIM:251750
HP:0000271	Abnormality of the face	7841	MOGS	ORPHA:79330
HP:0000271	Abnormality of the face	7841	MOGS	OMIM:606056
HP:0000271	Abnormality of the face	10466	COG5	ORPHA:263487
HP:0000271	Abnormality of the face	5283	PIGH	OMIM:618010
HP:0000271	Abnormality of the face	4015	LOX	OMIM:617168
HP:0000271	Abnormality of the face	84896	ATAD1	OMIM:618011
HP:0000271	Abnormality of the face	57187	THOC2	ORPHA:457240
HP:0000271	Abnormality of the face	29895	MYL11	OMIM:619110
HP:0000271	Abnormality of the face	84905	ZNF341	OMIM:618282
HP:0000271	Abnormality of the face	4702	NDUFA8	OMIM:619272
HP:0000271	Abnormality of the face	10046	MAMLD1	ORPHA:456328
HP:0000271	Abnormality of the face	1119	CHKA	OMIM:620023
HP:0000271	Abnormality of the face	84987	COX14	OMIM:619053
HP:0000271	Abnormality of the face	23265	EXOC7	OMIM:619072
HP:0000271	Abnormality of the face	50628	GEMIN4	OMIM:617913
HP:0000271	Abnormality of the face	667	DST	OMIM:614653
HP:0000271	Abnormality of the face	9698	PUM1	OMIM:617931
HP:0000271	Abnormality of the face	2335	FN1	ORPHA:93315
HP:0000271	Abnormality of the face	10157	AASS	ORPHA:2203
HP:0000271	Abnormality of the face	79631	EFL1	OMIM:617941
HP:0000271	Abnormality of the face	26224	FBXL3	OMIM:606220
HP:0000271	Abnormality of the face	23233	EXOC6B	ORPHA:93359
HP:0000271	Abnormality of the face	1376	CPT2	OMIM:608836
HP:0000271	Abnormality of the face	200205	IBA57	OMIM:615330
HP:0000271	Abnormality of the face	5430	POLR2A	OMIM:618603
HP:0000271	Abnormality of the face	1185	CLCN6	OMIM:619173
HP:0000271	Abnormality of the face	23325	WASHC4	OMIM:615817
HP:0000271	Abnormality of the face	10352	WARS2	ORPHA:572798
HP:0000271	Abnormality of the face	116115	ZNF526	OMIM:619877
HP:0000271	Abnormality of the face	5591	PRKDC	OMIM:615966
HP:0000271	Abnormality of the face	2683	B4GALT1	ORPHA:79332
HP:0000271	Abnormality of the face	7681	MKRN3	OMIM:176270
HP:0000271	Abnormality of the face	3653	IPW	OMIM:176270
HP:0000271	Abnormality of the face	791114	PWRN1	OMIM:176270
HP:0000271	Abnormality of the face	100033413	SNORD116-1	OMIM:176270
HP:0000271	Abnormality of the face	8924	HERC2	OMIM:176270
HP:0000271	Abnormality of the face	145624	PWAR1	OMIM:176270
HP:0000271	Abnormality of the face	23742	NPAP1	OMIM:176270
HP:0000271	Abnormality of the face	338433	SNORD115-1	OMIM:176270
HP:0000271	Abnormality of the face	1725	DHPS	OMIM:618480
HP:0000271	Abnormality of the face	4692	NDN	ORPHA:177901
HP:0000271	Abnormality of the face	54870	QRICH1	OMIM:617982
HP:0000271	Abnormality of the face	10551	AGR2	OMIM:620233
HP:0000271	Abnormality of the face	51780	KDM3B	OMIM:618846
HP:0000271	Abnormality of the face	84700	MYO18B	OMIM:616549
HP:0000271	Abnormality of the face	9276	COPB2	ORPHA:2512
HP:0000271	Abnormality of the face	284403	WDR62	ORPHA:2512
HP:0000271	Abnormality of the face	55262	TRAPPC14	ORPHA:2512
HP:0000271	Abnormality of the face	163786	SASS6	ORPHA:2512
HP:0000271	Abnormality of the face	84879	MFSD2A	ORPHA:2512
HP:0000271	Abnormality of the face	4176	MCM7	ORPHA:2512
HP:0000271	Abnormality of the face	80254	CEP63	ORPHA:2512
HP:0000271	Abnormality of the face	23310	NCAPD3	ORPHA:2512
HP:0000271	Abnormality of the face	55755	CDK5RAP2	ORPHA:2512
HP:0000271	Abnormality of the face	79648	MCPH1	ORPHA:2512
HP:0000271	Abnormality of the face	23141	ANKLE2	ORPHA:2512
HP:0000271	Abnormality of the face	259266	ASPM	ORPHA:2512
HP:0000271	Abnormality of the face	7109	TRAPPC10	ORPHA:2512
HP:0000271	Abnormality of the face	1911	PHC1	ORPHA:2512
HP:0000271	Abnormality of the face	6884	TAF13	ORPHA:2512
HP:0000271	Abnormality of the face	9662	CEP135	ORPHA:2512
HP:0000271	Abnormality of the face	57082	KNL1	ORPHA:2512
HP:0000271	Abnormality of the face	1021	CDK6	ORPHA:2512
HP:0000271	Abnormality of the face	3480	IGF1R	OMIM:270450
HP:0000271	Abnormality of the face	3762	KCNJ5	ORPHA:37553
HP:0000271	Abnormality of the face	9993	DGCR2	OMIM:192430
HP:0000271	Abnormality of the face	8220	ESS2	OMIM:192430
HP:0000271	Abnormality of the face	8214	DGCR6	OMIM:192430
HP:0000271	Abnormality of the face	54487	DGCR8	OMIM:192430
HP:0000271	Abnormality of the face	26525	IL36RN	OMIM:614204
HP:0000271	Abnormality of the face	8518	ELP1	OMIM:223900
HP:0000271	Abnormality of the face	54463	RETREG1	OMIM:201300
HP:0000271	Abnormality of the face	65125	WNK1	OMIM:201300
HP:0000271	Abnormality of the face	2243	FGA	OMIM:202400
HP:0000271	Abnormality of the face	2243	FGA	ORPHA:98880
HP:0000271	Abnormality of the face	2243	FGA	ORPHA:98881
HP:0000271	Abnormality of the face	2243	FGA	ORPHA:101041
HP:0000271	Abnormality of the face	2244	FGB	OMIM:202400
HP:0000271	Abnormality of the face	2244	FGB	ORPHA:98880
HP:0000271	Abnormality of the face	2244	FGB	ORPHA:98881
HP:0000271	Abnormality of the face	2244	FGB	ORPHA:101041
HP:0000271	Abnormality of the face	2266	FGG	OMIM:202400
HP:0000271	Abnormality of the face	2266	FGG	ORPHA:98880
HP:0000271	Abnormality of the face	2266	FGG	ORPHA:98881
HP:0000271	Abnormality of the face	2266	FGG	ORPHA:101041
HP:0000271	Abnormality of the face	10068	IL18BP	OMIM:618549
HP:0000271	Abnormality of the face	3257	HPS1	OMIM:203300
HP:0000271	Abnormality of the face	5345	SERPINF2	ORPHA:79
HP:0000271	Abnormality of the face	388552	BLOC1S3	OMIM:614077
HP:0000271	Abnormality of the face	3998	LMAN1	ORPHA:35909
HP:0000271	Abnormality of the face	90411	MCFD2	ORPHA:35909
HP:0000271	Abnormality of the face	2162	F13A1	OMIM:613225
HP:0000271	Abnormality of the face	2162	F13A1	ORPHA:331
HP:0000271	Abnormality of the face	2165	F13B	ORPHA:331
HP:0000271	Abnormality of the face	9493	KIF23	ORPHA:98870
HP:0000271	Abnormality of the face	29127	RACGAP1	ORPHA:98870
HP:0000271	Abnormality of the face	63915	BLOC1S5	OMIM:619172
HP:0000271	Abnormality of the face	5551	PRF1	ORPHA:88
HP:0000271	Abnormality of the face	51119	SBDS	ORPHA:88
HP:0000271	Abnormality of the face	2159	F10	OMIM:227600
HP:0000271	Abnormality of the face	2159	F10	ORPHA:328
HP:0000271	Abnormality of the face	2157	F8	ORPHA:169805
HP:0000271	Abnormality of the face	3717	JAK2	ORPHA:729
HP:0000271	Abnormality of the face	54790	TET2	ORPHA:729
HP:0000271	Abnormality of the face	2147	F2	OMIM:613679
HP:0000271	Abnormality of the face	9103	FCGR2C	ORPHA:3002
HP:0000271	Abnormality of the face	2155	F7	ORPHA:327
HP:0000271	Abnormality of the face	2153	F5	ORPHA:326
HP:0000271	Abnormality of the face	950	SCARB2	ORPHA:77259
HP:0000271	Abnormality of the face	3689	ITGB2	OMIM:116920
HP:0000271	Abnormality of the face	7840	ALMS1	ORPHA:64
HP:0000271	Abnormality of the face	7840	ALMS1	OMIM:203800
HP:0000271	Abnormality of the face	340024	SLC6A19	ORPHA:2116
HP:0000271	Abnormality of the face	57393	CLTRN	ORPHA:2116
HP:0000271	Abnormality of the face	847	CAT	ORPHA:926
HP:0000271	Abnormality of the face	9842	PLEKHM1	OMIM:618107
HP:0000271	Abnormality of the face	2672	GFI1	ORPHA:486
HP:0000271	Abnormality of the face	6729	SRP54	ORPHA:486
HP:0000271	Abnormality of the face	6785	ELOVL4	OMIM:614457
HP:0000271	Abnormality of the face	54809	SAMD9	OMIM:610455
HP:0000271	Abnormality of the face	1536	CYBB	ORPHA:379
HP:0000271	Abnormality of the face	4688	NCF2	ORPHA:379
HP:0000271	Abnormality of the face	1535	CYBA	ORPHA:379
HP:0000271	Abnormality of the face	4689	NCF4	ORPHA:379
HP:0000271	Abnormality of the face	79415	CYBC1	ORPHA:379
HP:0000271	Abnormality of the face	1075	CTSC	ORPHA:678
HP:0000271	Abnormality of the face	151516	ASPRV1	ORPHA:313
HP:0000271	Abnormality of the face	242	ALOX12B	ORPHA:313
HP:0000271	Abnormality of the face	242	ALOX12B	OMIM:242100
HP:0000271	Abnormality of the face	126410	CYP4F22	ORPHA:313
HP:0000271	Abnormality of the face	6820	SULT2B1	ORPHA:313
HP:0000271	Abnormality of the face	643418	LIPN	ORPHA:313
HP:0000271	Abnormality of the face	348938	NIPAL4	ORPHA:313
HP:0000271	Abnormality of the face	121214	SDR9C7	ORPHA:313
HP:0000271	Abnormality of the face	627	BDNF	ORPHA:893
HP:0000271	Abnormality of the face	65992	DDRGK1	OMIM:602557
HP:0000271	Abnormality of the face	9526	MPDU1	OMIM:609180
HP:0000271	Abnormality of the face	9526	MPDU1	ORPHA:79323
HP:0000271	Abnormality of the face	2735	GLI1	ORPHA:289
HP:0000271	Abnormality of the face	80185	TTI2	ORPHA:391307
HP:0000271	Abnormality of the face	56052	ALG1	OMIM:608540
HP:0000271	Abnormality of the face	4487	MSX1	ORPHA:141291
HP:0000271	Abnormality of the face	3664	IRF6	ORPHA:141291
HP:0000271	Abnormality of the face	57061	HYMAI	ORPHA:96191
HP:0000271	Abnormality of the face	5325	PLAGL1	ORPHA:96191
HP:0000271	Abnormality of the face	57647	DHX37	ORPHA:983
HP:0000271	Abnormality of the face	1644	DDC	OMIM:608643
HP:0000271	Abnormality of the face	1493	CTLA4	ORPHA:3162
HP:0000271	Abnormality of the face	940	CD28	ORPHA:3162
HP:0000271	Abnormality of the face	7133	TNFRSF1B	ORPHA:3162
HP:0000271	Abnormality of the face	4210	MEFV	ORPHA:3243
HP:0000271	Abnormality of the face	10262	SF3B4	OMIM:154400
HP:0000271	Abnormality of the face	10262	SF3B4	ORPHA:1788
HP:0000271	Abnormality of the face	54507	ADAMTSL4	ORPHA:1885
HP:0000271	Abnormality of the face	8425	LTBP4	OMIM:613177
HP:0000271	Abnormality of the face	55624	POMGNT1	OMIM:253280
HP:0000271	Abnormality of the face	23169	SLC35D1	ORPHA:3144
HP:0000271	Abnormality of the face	23169	SLC35D1	OMIM:269250
HP:0000271	Abnormality of the face	118987	PDZD8	OMIM:620021
HP:0000271	Abnormality of the face	1723	DHODH	OMIM:263750
HP:0000271	Abnormality of the face	1723	DHODH	ORPHA:246
HP:0000271	Abnormality of the face	7021	TFAP2B	ORPHA:46627
HP:0000271	Abnormality of the face	51109	RDH11	OMIM:616108
HP:0000271	Abnormality of the face	51109	RDH11	ORPHA:436245
HP:0000271	Abnormality of the face	55858	TMEM165	OMIM:614727
HP:0000271	Abnormality of the face	2296	FOXC1	OMIM:602482
HP:0000271	Abnormality of the face	4803	NGF	ORPHA:64752
HP:0000271	Abnormality of the face	157570	ESCO2	ORPHA:3103
HP:0000271	Abnormality of the face	157570	ESCO2	OMIM:268300
HP:0000271	Abnormality of the face	145258	GSC	OMIM:602471
HP:0000271	Abnormality of the face	2736	GLI2	OMIM:610829
HP:0000271	Abnormality of the face	4036	LRP2	OMIM:222448
HP:0000271	Abnormality of the face	4089	SMAD4	OMIM:139210
HP:0000271	Abnormality of the face	4849	CNOT3	OMIM:618672
HP:0000271	Abnormality of the face	3835	KIF22	OMIM:603546
HP:0000271	Abnormality of the face	27086	FOXP1	OMIM:613670
HP:0000271	Abnormality of the face	22930	RAB3GAP1	ORPHA:1387
HP:0000271	Abnormality of the face	7048	TGFBR2	OMIM:610168
HP:0000271	Abnormality of the face	7048	TGFBR2	ORPHA:60030
HP:0000271	Abnormality of the face	51574	LARP7	ORPHA:319671
HP:0000271	Abnormality of the face	51574	LARP7	OMIM:615071
HP:0000271	Abnormality of the face	4883	NPR3	OMIM:619543
HP:0000271	Abnormality of the face	55212	BBS7	OMIM:615984
HP:0000271	Abnormality of the face	7046	TGFBR1	ORPHA:60030
HP:0000271	Abnormality of the face	7046	TGFBR1	OMIM:609192
HP:0000271	Abnormality of the face	1297	COL9A1	ORPHA:250984
HP:0000271	Abnormality of the face	1299	COL9A3	ORPHA:250984
HP:0000271	Abnormality of the face	84695	LOXL3	ORPHA:250984
HP:0000271	Abnormality of the face	91179	SCARF2	OMIM:600920
HP:0000271	Abnormality of the face	56975	FAM20C	OMIM:259775
HP:0000271	Abnormality of the face	1741	DLG3	OMIM:300850
HP:0000271	Abnormality of the face	92344	GORAB	OMIM:231070
HP:0000271	Abnormality of the face	92344	GORAB	ORPHA:2078
HP:0000271	Abnormality of the face	3759	KCNJ2	OMIM:170390
HP:0000271	Abnormality of the face	6898	TAT	ORPHA:28378
HP:0000271	Abnormality of the face	8985	PLOD3	OMIM:612394
HP:0000271	Abnormality of the face	5702	PSMC3	OMIM:619354
HP:0000271	Abnormality of the face	23630	KCNE5	ORPHA:86818
HP:0000271	Abnormality of the face	2182	ACSL4	ORPHA:86818
HP:0000271	Abnormality of the face	29920	PYCR2	OMIM:616420
HP:0000271	Abnormality of the face	100151683	RNU4ATAC	ORPHA:2636
HP:0000271	Abnormality of the face	4693	NDP	ORPHA:649
HP:0000271	Abnormality of the face	9939	RBM8A	OMIM:274000
HP:0000271	Abnormality of the face	6496	SIX3	OMIM:157170
HP:0000271	Abnormality of the face	9130	FAM50A	OMIM:300261
HP:0000271	Abnormality of the face	871	SERPINH1	OMIM:613848
HP:0000271	Abnormality of the face	121340	SP7	OMIM:613849
HP:0000271	Abnormality of the face	724066	ATXN8	ORPHA:98760
HP:0000271	Abnormality of the face	5138	PDE2A	OMIM:619150
HP:0000271	Abnormality of the face	25953	PNKD	OMIM:118800
HP:0000271	Abnormality of the face	9860	LRIG2	OMIM:615112
HP:0000271	Abnormality of the face	1356	CP	ORPHA:48818
HP:0000271	Abnormality of the face	501	ALDH7A1	ORPHA:3006
HP:0000271	Abnormality of the face	11212	PLPBP	ORPHA:3006
HP:0000271	Abnormality of the face	2690	GHR	OMIM:262500
HP:0000271	Abnormality of the face	6328	SCN3A	OMIM:617935
HP:0000271	Abnormality of the face	10716	TBR1	ORPHA:1617
HP:0000271	Abnormality of the face	9382	COG1	OMIM:611209
HP:0000271	Abnormality of the face	10479	SLC9A6	OMIM:300243
HP:0000271	Abnormality of the face	10479	SLC9A6	ORPHA:85278
HP:0000271	Abnormality of the face	10525	HYOU1	OMIM:233600
HP:0000271	Abnormality of the face	51114	ZDHHC9	ORPHA:776
HP:0000271	Abnormality of the face	65109	UPF3B	ORPHA:776
HP:0000271	Abnormality of the face	65109	UPF3B	OMIM:300676
HP:0000271	Abnormality of the face	25778	DSTYK	OMIM:270750
HP:0000271	Abnormality of the face	4810	NHS	OMIM:302350
HP:0000271	Abnormality of the face	7102	TSPAN7	OMIM:300210
HP:0000271	Abnormality of the face	51132	RLIM	OMIM:300978
HP:0000271	Abnormality of the face	54880	BCOR	ORPHA:2712
HP:0000271	Abnormality of the face	54880	BCOR	OMIM:300166
HP:0000271	Abnormality of the face	9241	NOG	OMIM:186500
HP:0000271	Abnormality of the face	6611	SMS	ORPHA:3063
HP:0000271	Abnormality of the face	80152	CENPT	OMIM:618702
HP:0000271	Abnormality of the face	7486	WRN	ORPHA:902
HP:0000271	Abnormality of the face	63932	STEEP1	OMIM:301013
HP:0000271	Abnormality of the face	10293	TRAIP	OMIM:616777
HP:0000271	Abnormality of the face	10293	TRAIP	ORPHA:808
HP:0000271	Abnormality of the face	641	BLM	OMIM:210900
HP:0000271	Abnormality of the face	641	BLM	ORPHA:125
HP:0000271	Abnormality of the face	7140	TNNT3	ORPHA:1147
HP:0000271	Abnormality of the face	7136	TNNI2	ORPHA:1147
HP:0000271	Abnormality of the face	1062	CENPE	ORPHA:808
HP:0000271	Abnormality of the face	5932	RBBP8	ORPHA:808
HP:0000271	Abnormality of the face	79902	NUP85	ORPHA:808
HP:0000271	Abnormality of the face	84126	ATRIP	ORPHA:808
HP:0000271	Abnormality of the face	55835	CENPJ	ORPHA:808
HP:0000271	Abnormality of the face	6567	SLC16A2	ORPHA:59
HP:0000271	Abnormality of the face	1140	CHRNB1	OMIM:616313
HP:0000271	Abnormality of the face	10382	TUBB4A	OMIM:128101
HP:0000271	Abnormality of the face	2673	GFPT1	OMIM:608931
HP:0000271	Abnormality of the face	9853	RUSC2	OMIM:617773
HP:0000271	Abnormality of the face	5913	RAPSN	OMIM:616326
HP:0000271	Abnormality of the face	91801	ALKBH8	OMIM:618504
HP:0000271	Abnormality of the face	3703	STT3A	OMIM:619714
HP:0000271	Abnormality of the face	2067	ERCC1	ORPHA:90322
HP:0000271	Abnormality of the face	23118	TAB2	ORPHA:228410
HP:0000271	Abnormality of the face	613	BCR	ORPHA:261330
HP:0000271	Abnormality of the face	1399	CRKL	ORPHA:261330
HP:0000271	Abnormality of the face	10026	PIGK	OMIM:618879
HP:0000271	Abnormality of the face	4867	NPHP1	ORPHA:220497
HP:0000271	Abnormality of the face	95681	CEP41	ORPHA:220493
HP:0000271	Abnormality of the face	95681	CEP41	ORPHA:475
HP:0000271	Abnormality of the face	2590	GALNT2	OMIM:618885
HP:0000271	Abnormality of the face	80204	FBXO11	OMIM:618089
HP:0000271	Abnormality of the face	222663	SCUBE3	OMIM:619184
HP:0000271	Abnormality of the face	23327	NEDD4L	OMIM:617201
HP:0000271	Abnormality of the face	200894	ARL13B	ORPHA:475
HP:0000271	Abnormality of the face	9731	CEP104	ORPHA:475
HP:0000271	Abnormality of the face	219854	TMEM218	ORPHA:475
HP:0000271	Abnormality of the face	10464	PIBF1	ORPHA:475
HP:0000271	Abnormality of the face	80210	ARMC9	ORPHA:475
HP:0000271	Abnormality of the face	25776	CBY1	ORPHA:475
HP:0000271	Abnormality of the face	403	ARL3	ORPHA:475
HP:0000271	Abnormality of the face	6445	SGCG	ORPHA:353
HP:0000271	Abnormality of the face	51633	OTUD6B	OMIM:617452
HP:0000271	Abnormality of the face	51633	OTUD6B	ORPHA:505237
HP:0000271	Abnormality of the face	51692	CPSF3	OMIM:619876
HP:0000271	Abnormality of the face	81031	SLC2A10	ORPHA:3342
HP:0000271	Abnormality of the face	81031	SLC2A10	OMIM:208050
HP:0000271	Abnormality of the face	55719	SLF2	OMIM:620184
HP:0000271	Abnormality of the face	51244	CCDC174	OMIM:616816
HP:0000271	Abnormality of the face	3187	HNRNPH1	OMIM:620083
HP:0000271	Abnormality of the face	9342	SNAP29	OMIM:609528
HP:0000271	Abnormality of the face	9342	SNAP29	ORPHA:66631
HP:0000271	Abnormality of the face	4088	SMAD3	OMIM:613795
HP:0000271	Abnormality of the face	4088	SMAD3	ORPHA:284984
HP:0000271	Abnormality of the face	4087	SMAD2	OMIM:619656
HP:0000271	Abnormality of the face	4087	SMAD2	OMIM:619657
HP:0000271	Abnormality of the face	84317	CCDC115	OMIM:616828
HP:0000271	Abnormality of the face	10533	ATG7	OMIM:619422
HP:0000271	Abnormality of the face	10075	HUWE1	OMIM:309590
HP:0000271	Abnormality of the face	79912	PYROXD1	OMIM:617258
HP:0000271	Abnormality of the face	84679	SLC9A7	OMIM:301024
HP:0000271	Abnormality of the face	51524	TMEM138	ORPHA:2318
HP:0000271	Abnormality of the face	23090	ZNF423	ORPHA:2318
HP:0000271	Abnormality of the face	444	ASPH	OMIM:601552
HP:0000271	Abnormality of the face	5422	POLA1	OMIM:301030
HP:0000271	Abnormality of the face	22808	MRAS	OMIM:618499
HP:0000271	Abnormality of the face	79576	NKAP	OMIM:301039
HP:0000271	Abnormality of the face	1654	DDX3X	OMIM:300958
HP:0000271	Abnormality of the face	118924	FRA10AC1	OMIM:620113
HP:0000271	Abnormality of the face	4781	NFIB	OMIM:618286
HP:0000271	Abnormality of the face	23133	PHF8	ORPHA:85287
HP:0000271	Abnormality of the face	23133	PHF8	OMIM:300263
HP:0000271	Abnormality of the face	25974	MMACHC	ORPHA:79282
HP:0000271	Abnormality of the face	25974	MMACHC	OMIM:277400
HP:0000271	Abnormality of the face	11043	MID2	OMIM:300928
HP:0000271	Abnormality of the face	55553	SOX6	OMIM:618971
HP:0000271	Abnormality of the face	5566	PRKACA	OMIM:619142
HP:0000271	Abnormality of the face	25886	POC1A	OMIM:614813
HP:0000271	Abnormality of the face	5052	PRDX1	OMIM:277400
HP:0000271	Abnormality of the face	199857	ALG14	OMIM:619031
HP:0000271	Abnormality of the face	9131	AIFM1	OMIM:300232
HP:0000271	Abnormality of the face	27316	RBMX	OMIM:300238
HP:0000271	Abnormality of the face	51256	TBC1D7	OMIM:248000
HP:0000271	Abnormality of the face	1183	CLCN4	OMIM:300114
HP:0000271	Abnormality of the face	23241	PACS2	OMIM:618067
HP:0000271	Abnormality of the face	55823	VPS11	ORPHA:466934
HP:0000271	Abnormality of the face	118429	ANTXR2	ORPHA:2176
HP:0000271	Abnormality of the face	118429	ANTXR2	OMIM:228600
HP:0000271	Abnormality of the face	29072	SETD2	ORPHA:821
HP:0000271	Abnormality of the face	10297	APC2	ORPHA:821
HP:0000271	Abnormality of the face	114803	MYSM1	ORPHA:508542
HP:0000271	Abnormality of the face	80232	WDR26	ORPHA:513456
HP:0000271	Abnormality of the face	80232	WDR26	OMIM:617616
HP:0000271	Abnormality of the face	170302	ARX	OMIM:300004
HP:0000271	Abnormality of the face	170302	ARX	ORPHA:2508
HP:0000271	Abnormality of the face	65993	MRPS34	OMIM:617664
HP:0000271	Abnormality of the face	23431	AP4E1	OMIM:613744
HP:0000271	Abnormality of the face	23431	AP4E1	ORPHA:280763
HP:0000271	Abnormality of the face	5476	CTSA	OMIM:256540
HP:0000271	Abnormality of the face	5476	CTSA	ORPHA:351
HP:0000271	Abnormality of the face	84572	GNPTG	OMIM:252605
HP:0000271	Abnormality of the face	56992	KIF15	ORPHA:261323
HP:0000271	Abnormality of the face	3074	HEXB	ORPHA:309155
HP:0000271	Abnormality of the face	3074	HEXB	OMIM:268800
HP:0000271	Abnormality of the face	3423	IDS	ORPHA:217085
HP:0000271	Abnormality of the face	3423	IDS	OMIM:309900
HP:0000271	Abnormality of the face	3423	IDS	ORPHA:217093
HP:0000271	Abnormality of the face	8289	ARID1A	OMIM:614607
HP:0000271	Abnormality of the face	8289	ARID1A	ORPHA:1465
HP:0000271	Abnormality of the face	4323	MMP14	OMIM:277950
HP:0000271	Abnormality of the face	83480	PUS3	ORPHA:488627
HP:0000271	Abnormality of the face	83480	PUS3	OMIM:617051
HP:0000271	Abnormality of the face	6598	SMARCB1	OMIM:614608
HP:0000271	Abnormality of the face	6598	SMARCB1	ORPHA:1465
HP:0000271	Abnormality of the face	6597	SMARCA4	OMIM:614609
HP:0000271	Abnormality of the face	6597	SMARCA4	ORPHA:1465
HP:0000271	Abnormality of the face	1193	CLIC2	ORPHA:324410
HP:0000271	Abnormality of the face	79813	EHMT1	OMIM:610253
HP:0000271	Abnormality of the face	3782	KCNN3	OMIM:618658
HP:0000271	Abnormality of the face	1267	CNP	OMIM:619071
HP:0000271	Abnormality of the face	10717	AP4B1	OMIM:614066
HP:0000271	Abnormality of the face	10717	AP4B1	ORPHA:280763
HP:0000271	Abnormality of the face	11154	AP4S1	OMIM:614067
HP:0000271	Abnormality of the face	11154	AP4S1	ORPHA:280763
HP:0000271	Abnormality of the face	8905	AP1S2	ORPHA:85335
HP:0000271	Abnormality of the face	8905	AP1S2	OMIM:304340
HP:0000271	Abnormality of the face	27125	AFF4	OMIM:616368
HP:0000271	Abnormality of the face	9255	AIMP1	OMIM:260600
HP:0000271	Abnormality of the face	9091	PIGQ	OMIM:618548
HP:0000271	Abnormality of the face	2990	GUSB	ORPHA:584
HP:0000271	Abnormality of the face	2990	GUSB	OMIM:253220
HP:0000271	Abnormality of the face	6605	SMARCE1	OMIM:616938
HP:0000271	Abnormality of the face	6605	SMARCE1	ORPHA:1465
HP:0000271	Abnormality of the face	57192	MCOLN1	ORPHA:578
HP:0000271	Abnormality of the face	10984	KCNQ1OT1	OMIM:130650
HP:0000271	Abnormality of the face	3784	KCNQ1	OMIM:130650
HP:0000271	Abnormality of the face	26047	CNTNAP2	OMIM:610042
HP:0000271	Abnormality of the face	79791	FBXO31	OMIM:615979
HP:0000271	Abnormality of the face	84295	PHF6	ORPHA:127
HP:0000271	Abnormality of the face	84295	PHF6	OMIM:301900
HP:0000271	Abnormality of the face	84188	FAR1	OMIM:616154
HP:0000271	Abnormality of the face	4352	MPL	ORPHA:3319
HP:0000271	Abnormality of the face	7066	THPO	ORPHA:3319
HP:0000271	Abnormality of the face	5277	PIGA	OMIM:301072
HP:0000271	Abnormality of the face	5277	PIGA	OMIM:300868
HP:0000271	Abnormality of the face	54808	DYM	ORPHA:239
HP:0000271	Abnormality of the face	54808	DYM	OMIM:223800
HP:0000271	Abnormality of the face	9488	PIGB	OMIM:618580
HP:0000271	Abnormality of the face	6448	SGSH	OMIM:252900
HP:0000271	Abnormality of the face	30000	TNPO2	OMIM:619556
HP:0000271	Abnormality of the face	124997	WDR81	OMIM:610185
HP:0000271	Abnormality of the face	411	ARSB	OMIM:253200
HP:0000271	Abnormality of the face	55593	OTUD5	OMIM:301056
HP:0000271	Abnormality of the face	26580	BSCL2	ORPHA:363400
HP:0000271	Abnormality of the face	23102	TBC1D2B	OMIM:619323
HP:0000271	Abnormality of the face	79868	ALG13	OMIM:300884
HP:0000271	Abnormality of the face	55784	MCTP2	ORPHA:1596
HP:0000271	Abnormality of the face	9179	AP4M1	OMIM:612936
HP:0000271	Abnormality of the face	9179	AP4M1	ORPHA:280763
HP:0000271	Abnormality of the face	7849	PAX8	ORPHA:95720
HP:0000271	Abnormality of the face	7849	PAX8	ORPHA:95713
HP:0000271	Abnormality of the face	7849	PAX8	ORPHA:95712
HP:0000271	Abnormality of the face	7253	TSHR	ORPHA:95720
HP:0000271	Abnormality of the face	7253	TSHR	ORPHA:95713
HP:0000271	Abnormality of the face	5172	SLC26A4	ORPHA:95720
HP:0000271	Abnormality of the face	5172	SLC26A4	ORPHA:95713
HP:0000271	Abnormality of the face	79068	FTO	OMIM:612938
HP:0000271	Abnormality of the face	153642	ARSK	OMIM:619698
HP:0000271	Abnormality of the face	63035	BCORL1	OMIM:301029
HP:0000271	Abnormality of the face	5530	PPP3CA	OMIM:617711
HP:0000271	Abnormality of the face	6601	SMARCC2	ORPHA:1465
HP:0000271	Abnormality of the face	6664	SOX11	ORPHA:1465
HP:0000271	Abnormality of the face	7080	NKX2-1	ORPHA:95713
HP:0000271	Abnormality of the face	1482	NKX2-5	ORPHA:95713
HP:0000271	Abnormality of the face	1482	NKX2-5	ORPHA:95712
HP:0000271	Abnormality of the face	2304	FOXE1	ORPHA:95713
HP:0000271	Abnormality of the face	28956	LAMTOR2	ORPHA:90023
HP:0000271	Abnormality of the face	28956	LAMTOR2	OMIM:610798
HP:0000271	Abnormality of the face	2717	GLA	ORPHA:324
HP:0000271	Abnormality of the face	3248	HPGD	ORPHA:2796
HP:0000271	Abnormality of the face	3248	HPGD	OMIM:259100
HP:0000271	Abnormality of the face	6578	SLCO2A1	ORPHA:2796
HP:0000271	Abnormality of the face	80311	KLHL15	OMIM:300982
HP:0000271	Abnormality of the face	26175	LYSET	OMIM:619345
HP:0000271	Abnormality of the face	54681	P4HTM	OMIM:618493
HP:0000271	Abnormality of the face	5281	PIGF	OMIM:619356
HP:0000271	Abnormality of the face	2588	GALNS	OMIM:253000
HP:0000271	Abnormality of the face	285590	SH3PXD2B	ORPHA:137834
HP:0000271	Abnormality of the face	285590	SH3PXD2B	OMIM:249420
HP:0000271	Abnormality of the face	374879	ZNF699	OMIM:619488
HP:0000271	Abnormality of the face	57688	ZSWIM6	OMIM:617865
HP:0000271	Abnormality of the face	153241	CEP120	OMIM:616300
HP:0000271	Abnormality of the face	4668	NAGA	ORPHA:79280
HP:0000271	Abnormality of the face	4668	NAGA	OMIM:609242
HP:0000271	Abnormality of the face	138050	HGSNAT	OMIM:252930
HP:0000271	Abnormality of the face	55901	THSD1	OMIM:620244
HP:0000271	Abnormality of the face	64802	NMNAT1	OMIM:619260
HP:0000271	Abnormality of the face	3897	L1CAM	ORPHA:2182
HP:0000271	Abnormality of the face	83452	RAB33B	OMIM:615222
HP:0000271	Abnormality of the face	55331	ACER3	OMIM:617762
HP:0000271	Abnormality of the face	9373	PLAA	OMIM:617527
HP:0000271	Abnormality of the face	4669	NAGLU	OMIM:252920
HP:0000271	Abnormality of the face	5626	PROP1	ORPHA:226307
HP:0000271	Abnormality of the face	89884	LHX4	ORPHA:226307
HP:0000271	Abnormality of the face	8022	LHX3	ORPHA:226307
HP:0000271	Abnormality of the face	8820	HESX1	ORPHA:226307
HP:0000271	Abnormality of the face	405753	DUOXA2	ORPHA:95716
HP:0000271	Abnormality of the face	6528	SLC5A5	ORPHA:95716
HP:0000271	Abnormality of the face	7038	TG	ORPHA:95716
HP:0000271	Abnormality of the face	7173	TPO	ORPHA:95716
HP:0000271	Abnormality of the face	389434	IYD	ORPHA:95716
HP:0000271	Abnormality of the face	50506	DUOX2	ORPHA:95716
HP:0000271	Abnormality of the face	2050	EPHB4	ORPHA:90186
HP:0000271	Abnormality of the face	2050	EPHB4	OMIM:617300
HP:0000271	Abnormality of the face	5340	PLG	OMIM:619360
HP:0000271	Abnormality of the face	284	ANGPT1	OMIM:619361
HP:0000271	Abnormality of the face	213	ALB	ORPHA:86816
HP:0000271	Abnormality of the face	84868	HAVCR2	OMIM:618398
HP:0000271	Abnormality of the face	26509	MYOF	OMIM:619366
HP:0000271	Abnormality of the face	64711	HS3ST6	OMIM:619367
HP:0000271	Abnormality of the face	3827	KNG1	OMIM:619363
HP:0000271	Abnormality of the face	7252	TSHB	ORPHA:90674
HP:0000271	Abnormality of the face	2161	F12	OMIM:610618
HP:0000271	Abnormality of the face	7552	ZNF711	OMIM:300803
HP:0000271	Abnormality of the face	7043	TGFB3	OMIM:615582
HP:0000271	Abnormality of the face	175	AGA	OMIM:208400
HP:0000271	Abnormality of the face	1759	DNM1	OMIM:620352
HP:0000271	Abnormality of the face	26235	FBXL4	OMIM:615471
HP:0000271	Abnormality of the face	23019	CNOT1	OMIM:618500
HP:0000271	Abnormality of the face	8216	LZTR1	OMIM:616564
HP:0000271	Abnormality of the face	8216	LZTR1	OMIM:605275
HP:0000271	Abnormality of the face	23135	KDM6B	OMIM:618505
HP:0000271	Abnormality of the face	6016	RIT1	OMIM:615355
HP:0000271	Abnormality of the face	4204	MECP2	ORPHA:1762
HP:0000271	Abnormality of the face	4204	MECP2	OMIM:300260
HP:0000271	Abnormality of the face	6228	RPS23	OMIM:617412
HP:0000271	Abnormality of the face	84942	WDR73	OMIM:251300
HP:0000271	Abnormality of the face	51741	WWOX	OMIM:616211
HP:0000271	Abnormality of the face	283489	CHAMP1	OMIM:616579
HP:0000271	Abnormality of the face	51111	KMT5B	OMIM:617788
HP:0000271	Abnormality of the face	2624	GATA2	OMIM:614038
HP:0000271	Abnormality of the face	79639	TMEM53	OMIM:619727
HP:0000271	Abnormality of the face	129563	DIS3L2	ORPHA:2849
HP:0000271	Abnormality of the face	10084	PQBP1	ORPHA:93947
HP:0000271	Abnormality of the face	10084	PQBP1	OMIM:309500
HP:0000271	Abnormality of the face	3764	KCNJ8	ORPHA:1517
HP:0000271	Abnormality of the face	10060	ABCC9	ORPHA:1517
HP:0000271	Abnormality of the face	10060	ABCC9	OMIM:239850
HP:0000271	Abnormality of the face	79158	GNPTAB	OMIM:252500
HP:0000271	Abnormality of the face	79158	GNPTAB	ORPHA:576
HP:0000271	Abnormality of the face	55636	CHD7	ORPHA:138
HP:0000271	Abnormality of the face	9723	SEMA3E	ORPHA:138
HP:0000271	Abnormality of the face	5189	PEX1	OMIM:214100
HP:0000271	Abnormality of the face	5189	PEX1	OMIM:601539
HP:0000271	Abnormality of the face	5189	PEX1	ORPHA:912
HP:0000271	Abnormality of the face	29957	SLC25A24	ORPHA:2963
HP:0000271	Abnormality of the face	6023	RMRP	ORPHA:175
HP:0000271	Abnormality of the face	57589	RIC1	OMIM:618761
HP:0000271	Abnormality of the face	284058	KANSL1	ORPHA:363958
HP:0000271	Abnormality of the face	284058	KANSL1	OMIM:610443
HP:0000271	Abnormality of the face	284058	KANSL1	ORPHA:363965
HP:0000271	Abnormality of the face	54453	RIN2	OMIM:613075
HP:0000271	Abnormality of the face	9692	PRORP	OMIM:619737
HP:0000271	Abnormality of the face	815	CAMK2A	OMIM:617798
HP:0000271	Abnormality of the face	4853	NOTCH2	OMIM:102500
HP:0000271	Abnormality of the face	10381	TUBB3	ORPHA:300570
HP:0000271	Abnormality of the face	9326	ZNHIT3	ORPHA:2836
HP:0000271	Abnormality of the face	9326	ZNHIT3	OMIM:260565
HP:0000271	Abnormality of the face	547	KIF1A	ORPHA:2836
HP:0000271	Abnormality of the face	2626	GATA4	ORPHA:251071
HP:0000271	Abnormality of the face	1289	COL5A1	ORPHA:287
HP:0000271	Abnormality of the face	1289	COL5A1	OMIM:130000
HP:0000271	Abnormality of the face	1290	COL5A2	ORPHA:287
HP:0000271	Abnormality of the face	1290	COL5A2	OMIM:130010
HP:0000271	Abnormality of the face	6872	TAF1	ORPHA:480907
HP:0000271	Abnormality of the face	1281	COL3A1	ORPHA:286
HP:0000271	Abnormality of the face	10087	CERT1	OMIM:616351
HP:0000271	Abnormality of the face	4763	NF1	ORPHA:363700
HP:0000271	Abnormality of the face	4763	NF1	OMIM:193520
HP:0000271	Abnormality of the face	4763	NF1	OMIM:601321
HP:0000271	Abnormality of the face	22884	WDR37	OMIM:618652
HP:0000271	Abnormality of the face	1501	CTNND2	ORPHA:281
HP:0000271	Abnormality of the face	9037	SEMA5A	ORPHA:281
HP:0000271	Abnormality of the face	5442	POLRMT	OMIM:619743
HP:0000271	Abnormality of the face	3340	NDST1	OMIM:616116
HP:0000271	Abnormality of the face	55012	PPP2R3C	OMIM:618419
HP:0000271	Abnormality of the face	200734	SPRED2	OMIM:619745
HP:0000271	Abnormality of the face	89910	UBE3B	ORPHA:2707
HP:0000271	Abnormality of the face	89910	UBE3B	OMIM:244450
HP:0000271	Abnormality of the face	8642	DCHS1	OMIM:601390
HP:0000271	Abnormality of the face	8642	DCHS1	ORPHA:314679
HP:0000271	Abnormality of the face	54345	SOX18	OMIM:137940
HP:0000271	Abnormality of the face	1789	DNMT3B	OMIM:242860
HP:0000271	Abnormality of the face	1789	DNMT3B	ORPHA:2268
HP:0000271	Abnormality of the face	3981	LIG4	ORPHA:235
HP:0000271	Abnormality of the face	3981	LIG4	ORPHA:99812
HP:0000271	Abnormality of the face	3981	LIG4	OMIM:606593
HP:0000271	Abnormality of the face	54888	NSUN2	ORPHA:235
HP:0000271	Abnormality of the face	23312	DMXL2	OMIM:618663
HP:0000271	Abnormality of the face	23461	ABCA5	OMIM:135400
HP:0000271	Abnormality of the face	54914	FOCAD	OMIM:619991
HP:0000271	Abnormality of the face	8558	CDK10	OMIM:617694
HP:0000271	Abnormality of the face	79633	FAT4	OMIM:616006
HP:0000271	Abnormality of the face	79633	FAT4	ORPHA:314679
HP:0000271	Abnormality of the face	79633	FAT4	ORPHA:2136
HP:0000271	Abnormality of the face	79633	FAT4	OMIM:615546
HP:0000271	Abnormality of the face	9841	ZBTB24	OMIM:614069
HP:0000271	Abnormality of the face	9841	ZBTB24	ORPHA:2268
HP:0000271	Abnormality of the face	5979	RET	ORPHA:1848
HP:0000271	Abnormality of the face	7484	WNT9B	ORPHA:1848
HP:0000271	Abnormality of the face	80000	GREB1L	ORPHA:1848
HP:0000271	Abnormality of the face	6899	TBX1	ORPHA:1727
HP:0000271	Abnormality of the face	6899	TBX1	ORPHA:567
HP:0000271	Abnormality of the face	6134	RPL10	ORPHA:459070
HP:0000271	Abnormality of the face	6134	RPL10	OMIM:300998
HP:0000271	Abnormality of the face	286	ANK1	ORPHA:251066
HP:0000271	Abnormality of the face	85365	ALG2	ORPHA:79326
HP:0000271	Abnormality of the face	85365	ALG2	OMIM:607906
HP:0000271	Abnormality of the face	26137	ZBTB20	OMIM:259050
HP:0000271	Abnormality of the face	54828	BCAS3	OMIM:619641
HP:0000271	Abnormality of the face	7750	ZMYM2	OMIM:619522
HP:0000271	Abnormality of the face	56098	PCDHGC4	OMIM:619880
HP:0000271	Abnormality of the face	7358	UGDH	OMIM:618792
HP:0000271	Abnormality of the face	53335	BCL11A	OMIM:617101
HP:0000271	Abnormality of the face	113179	ADAT3	OMIM:615286
HP:0000271	Abnormality of the face	113179	ADAT3	ORPHA:363528
HP:0000271	Abnormality of the face	59336	PRDM13	OMIM:619761
HP:0000271	Abnormality of the face	59336	PRDM13	OMIM:619909
HP:0000271	Abnormality of the face	9158	FIBP	OMIM:617107
HP:0000271	Abnormality of the face	9158	FIBP	ORPHA:500095
HP:0000271	Abnormality of the face	2324	FLT4	ORPHA:79452
HP:0000271	Abnormality of the face	57165	GJC2	ORPHA:79452
HP:0000271	Abnormality of the face	5373	PMM2	ORPHA:79318
HP:0000271	Abnormality of the face	57724	EPG5	OMIM:242840
HP:0000271	Abnormality of the face	7030	TFE3	OMIM:301066
HP:0000271	Abnormality of the face	2719	GPC3	ORPHA:373
HP:0000271	Abnormality of the face	2719	GPC3	OMIM:312870
HP:0000271	Abnormality of the face	5286	PIK3C2A	OMIM:618440
HP:0000271	Abnormality of the face	5286	PIK3C2A	ORPHA:557003
HP:0000271	Abnormality of the face	8565	YARS1	OMIM:619418
HP:0000271	Abnormality of the face	23499	MACF1	OMIM:618325
HP:0000271	Abnormality of the face	374969	SVBP	OMIM:618569
HP:0000271	Abnormality of the face	7476	WNT7A	OMIM:276820
HP:0000271	Abnormality of the face	51322	WAC	ORPHA:466950
HP:0000271	Abnormality of the face	404672	GTF2H5	ORPHA:33364
HP:0000271	Abnormality of the face	833	CARS1	ORPHA:33364
HP:0000271	Abnormality of the face	2068	ERCC2	ORPHA:33364
HP:0000271	Abnormality of the face	7737	RNF113A	ORPHA:33364
HP:0000271	Abnormality of the face	136647	MPLKIP	ORPHA:33364
HP:0000271	Abnormality of the face	136647	MPLKIP	OMIM:234050
HP:0000271	Abnormality of the face	6897	TARS1	ORPHA:33364
HP:0000271	Abnormality of the face	2071	ERCC3	ORPHA:33364
HP:0000271	Abnormality of the face	2961	GTF2E2	ORPHA:33364
HP:0000271	Abnormality of the face	9896	FIG4	OMIM:216340
HP:0000271	Abnormality of the face	10195	ALG3	OMIM:601110
HP:0000271	Abnormality of the face	6135	RPL11	ORPHA:124
HP:0000271	Abnormality of the face	6138	RPL15	ORPHA:124
HP:0000271	Abnormality of the face	6229	RPS24	ORPHA:124
HP:0000271	Abnormality of the face	6125	RPL5	ORPHA:124
HP:0000271	Abnormality of the face	6204	RPS10	ORPHA:124
HP:0000271	Abnormality of the face	6224	RPS20	ORPHA:124
HP:0000271	Abnormality of the face	6165	RPL35A	ORPHA:124
HP:0000271	Abnormality of the face	6223	RPS19	ORPHA:124
HP:0000271	Abnormality of the face	6223	RPS19	OMIM:105650
HP:0000271	Abnormality of the face	6232	RPS27	ORPHA:124
HP:0000271	Abnormality of the face	6231	RPS26	ORPHA:124
HP:0000271	Abnormality of the face	11224	RPL35	ORPHA:124
HP:0000271	Abnormality of the face	6160	RPL31	ORPHA:124
HP:0000271	Abnormality of the face	6218	RPS17	ORPHA:124
HP:0000271	Abnormality of the face	6201	RPS7	ORPHA:124
HP:0000271	Abnormality of the face	6155	RPL27	ORPHA:124
HP:0000271	Abnormality of the face	6154	RPL26	ORPHA:124
HP:0000271	Abnormality of the face	6210	RPS15A	ORPHA:124
HP:0000271	Abnormality of the face	90121	TSR2	ORPHA:124
HP:0000271	Abnormality of the face	6141	RPL18	ORPHA:124
HP:0000271	Abnormality of the face	6235	RPS29	ORPHA:124
HP:0000271	Abnormality of the face	6234	RPS28	ORPHA:124
HP:0000271	Abnormality of the face	6234	RPS28	OMIM:606164
HP:0000271	Abnormality of the face	51816	ADA2	ORPHA:124
HP:0000271	Abnormality of the face	117581	TWIST2	ORPHA:1807
HP:0000271	Abnormality of the face	117581	TWIST2	OMIM:227260
HP:0000271	Abnormality of the face	1917	EEF1A2	OMIM:616393
HP:0000271	Abnormality of the face	8621	CDK13	OMIM:617360
HP:0000271	Abnormality of the face	51117	COQ4	OMIM:616276
HP:0000271	Abnormality of the face	1642	DDB1	OMIM:619426
HP:0000271	Abnormality of the face	6857	SYT1	OMIM:618218
HP:0000271	Abnormality of the face	6857	SYT1	ORPHA:522077
HP:0000271	Abnormality of the face	6654	SOS1	OMIM:610733
HP:0000271	Abnormality of the face	1801	DPH1	ORPHA:459061
HP:0000271	Abnormality of the face	1801	DPH1	OMIM:616901
HP:0000271	Abnormality of the face	389827	MYMK	OMIM:254940
HP:0000271	Abnormality of the face	389827	MYMK	ORPHA:1358
HP:0000271	Abnormality of the face	6929	TCF3	ORPHA:33110
HP:0000271	Abnormality of the face	973	CD79A	ORPHA:33110
HP:0000271	Abnormality of the face	974	CD79B	ORPHA:33110
HP:0000271	Abnormality of the face	3543	IGLL1	ORPHA:33110
HP:0000271	Abnormality of the face	3507	IGHM	ORPHA:33110
HP:0000271	Abnormality of the face	29760	BLNK	ORPHA:33110
HP:0000271	Abnormality of the face	56262	LRRC8A	ORPHA:33110
HP:0000271	Abnormality of the face	56262	LRRC8A	OMIM:613506
HP:0000271	Abnormality of the face	84706	GPT2	OMIM:616281
HP:0000271	Abnormality of the face	6909	TBX2	OMIM:618223
HP:0000271	Abnormality of the face	5351	PLOD1	OMIM:225400
HP:0000271	Abnormality of the face	6477	SIAH1	OMIM:619314
HP:0000271	Abnormality of the face	54517	PUS7	OMIM:618342
HP:0000271	Abnormality of the face	57102	C12orf4	OMIM:618221
HP:0000271	Abnormality of the face	8573	CASK	OMIM:300749
HP:0000271	Abnormality of the face	10785	WDR4	OMIM:618347
HP:0000271	Abnormality of the face	55628	ZNF407	OMIM:619557
HP:0000271	Abnormality of the face	56623	INPP5E	OMIM:213300
HP:0000271	Abnormality of the face	50814	NSDHL	ORPHA:251383
HP:0000271	Abnormality of the face	50814	NSDHL	OMIM:300831
HP:0000271	Abnormality of the face	128869	PIGU	OMIM:618590
HP:0000271	Abnormality of the face	5575	PRKAR1B	OMIM:619680
HP:0000271	Abnormality of the face	26275	HIBCH	ORPHA:88639
HP:0000271	Abnormality of the face	26275	HIBCH	OMIM:250620
HP:0000271	Abnormality of the face	650	BMP2	ORPHA:261295
HP:0000271	Abnormality of the face	1436	CSF1R	OMIM:618476
HP:0000271	Abnormality of the face	57520	HECW2	OMIM:617268
HP:0000271	Abnormality of the face	5980	REV3L	ORPHA:570
HP:0000271	Abnormality of the face	23129	PLXND1	ORPHA:570
HP:0000271	Abnormality of the face	4621	MYH3	OMIM:193700
HP:0000271	Abnormality of the face	4621	MYH3	ORPHA:2990
HP:0000271	Abnormality of the face	23221	RHOBTB2	OMIM:618004
HP:0000271	Abnormality of the face	2334	AFF2	OMIM:309548
HP:0000271	Abnormality of the face	2334	AFF2	ORPHA:100973
HP:0000271	Abnormality of the face	4141	MARS1	OMIM:619692
HP:0000271	Abnormality of the face	1108	CHD4	OMIM:617159
HP:0000271	Abnormality of the face	9719	ADAMTSL2	ORPHA:1901
HP:0000271	Abnormality of the face	9509	ADAMTS2	ORPHA:1901
HP:0000271	Abnormality of the face	9509	ADAMTS2	OMIM:225410
HP:0000271	Abnormality of the face	1312	COMT	ORPHA:567
HP:0000271	Abnormality of the face	221037	JMJD1C	ORPHA:567
HP:0000271	Abnormality of the face	2812	GP1BB	ORPHA:567
HP:0000271	Abnormality of the face	6239	RREB1	ORPHA:567
HP:0000271	Abnormality of the face	7290	HIRA	ORPHA:567
HP:0000271	Abnormality of the face	9632	SEC24C	ORPHA:567
HP:0000271	Abnormality of the face	7353	UFD1	ORPHA:567
HP:0000271	Abnormality of the face	421	ARVCF	ORPHA:567
HP:0000271	Abnormality of the face	22827	PUF60	ORPHA:508488
HP:0000271	Abnormality of the face	23111	SPART	ORPHA:101000
HP:0000271	Abnormality of the face	1822	ATN1	OMIM:618494
HP:0000271	Abnormality of the face	3188	HNRNPH2	OMIM:300986
HP:0000271	Abnormality of the face	4613	MYCN	OMIM:164280
HP:0000271	Abnormality of the face	5573	PRKAR1A	OMIM:101800
HP:0000271	Abnormality of the face	5573	PRKAR1A	ORPHA:950
HP:0000271	Abnormality of the face	2290	FOXG1	ORPHA:261144
HP:0000271	Abnormality of the face	57003	CCDC47	OMIM:618268
HP:0000271	Abnormality of the face	134218	DNAJC21	OMIM:617052
HP:0000271	Abnormality of the face	5977	DPF2	OMIM:618027
HP:0000271	Abnormality of the face	10847	SRCAP	OMIM:619595
HP:0000271	Abnormality of the face	51317	PHF21A	ORPHA:52022
HP:0000271	Abnormality of the face	1457	CSNK2A1	OMIM:617062
HP:0000271	Abnormality of the face	2222	FDFT1	OMIM:618156
HP:0000271	Abnormality of the face	203068	TUBB	OMIM:156610
HP:0000271	Abnormality of the face	203068	TUBB	ORPHA:2505
HP:0000271	Abnormality of the face	51715	RAB23	OMIM:201000
HP:0000271	Abnormality of the face	57477	SHROOM4	ORPHA:85288
HP:0000271	Abnormality of the face	10220	GDF11	OMIM:619122
HP:0000271	Abnormality of the face	226	ALDOA	OMIM:611881
HP:0000271	Abnormality of the face	8450	CUL4B	ORPHA:85293
HP:0000271	Abnormality of the face	93587	TRMT10A	ORPHA:391408
HP:0000271	Abnormality of the face	84919	PPP1R15B	ORPHA:391408
HP:0000271	Abnormality of the face	84919	PPP1R15B	OMIM:616817
HP:0000271	Abnormality of the face	55252	ASXL2	OMIM:617190
HP:0000271	Abnormality of the face	3090	HIC1	ORPHA:531
HP:0000271	Abnormality of the face	80267	EDEM3	OMIM:619493
HP:0000271	Abnormality of the face	23154	NCDN	OMIM:619373
HP:0000271	Abnormality of the face	84231	TRAF7	OMIM:618164
HP:0000271	Abnormality of the face	51594	NBAS	OMIM:614800
HP:0000271	Abnormality of the face	54187	NANS	OMIM:610442
HP:0000271	Abnormality of the face	10079	ATP9A	OMIM:620242
HP:0000271	Abnormality of the face	1795	DOCK3	OMIM:618292
HP:0000271	Abnormality of the face	11011	TLK2	OMIM:618050
HP:0000271	Abnormality of the face	129285	PPP1R21	OMIM:619383
HP:0000271	Abnormality of the face	9562	MINPP1	ORPHA:284339
HP:0000271	Abnormality of the face	51626	DYNC2LI1	OMIM:617088
HP:0000271	Abnormality of the face	221927	BRAT1	OMIM:618056
HP:0000271	Abnormality of the face	168667	BMPER	OMIM:608022
HP:0000271	Abnormality of the face	7337	UBE3A	ORPHA:238446
HP:0000271	Abnormality of the face	6309	SC5D	ORPHA:46059
HP:0000271	Abnormality of the face	6309	SC5D	OMIM:607330
HP:0000271	Abnormality of the face	8506	CNTNAP1	OMIM:618186
HP:0000271	Abnormality of the face	5393	EXOSC9	OMIM:618065
HP:0000271	Abnormality of the face	161742	SPRED1	OMIM:611431
HP:0000271	Abnormality of the face	5894	RAF1	OMIM:611554
HP:0000271	Abnormality of the face	5894	RAF1	OMIM:611553
HP:0000271	Abnormality of the face	7518	XRCC4	ORPHA:99812
HP:0000271	Abnormality of the face	51506	UFC1	OMIM:618076
HP:0000271	Abnormality of the face	55788	LMBRD1	OMIM:277380
HP:0000271	Abnormality of the face	1717	DHCR7	ORPHA:818
HP:0000271	Abnormality of the face	1717	DHCR7	OMIM:270400
HP:0000271	Abnormality of the face	25782	RAB3GAP2	OMIM:212720
HP:0000271	Abnormality of the face	10472	ZBTB18	ORPHA:36367
HP:0000271	Abnormality of the face	10472	ZBTB18	OMIM:612337
HP:0000271	Abnormality of the face	10225	CD96	OMIM:211750
HP:0000271	Abnormality of the face	10225	CD96	ORPHA:1308
HP:0000271	Abnormality of the face	1146	CHRNG	OMIM:265000
HP:0000271	Abnormality of the face	1146	CHRNG	OMIM:253290
HP:0000271	Abnormality of the face	1146	CHRNG	ORPHA:2990
HP:0000271	Abnormality of the face	84992	PIGY	ORPHA:247262
HP:0000271	Abnormality of the face	84720	PIGO	ORPHA:247262
HP:0000271	Abnormality of the face	93210	PGAP3	ORPHA:247262
HP:0000271	Abnormality of the face	284098	PIGW	ORPHA:247262
HP:0000271	Abnormality of the face	27315	PGAP2	ORPHA:247262
HP:0000271	Abnormality of the face	55650	PIGV	ORPHA:247262
HP:0000271	Abnormality of the face	28958	COA3	OMIM:619058
HP:0000271	Abnormality of the face	9739	SETD1A	OMIM:619056
HP:0000271	Abnormality of the face	7490	WT1	OMIM:194080
HP:0000271	Abnormality of the face	546	ATRX	ORPHA:847
HP:0000271	Abnormality of the face	546	ATRX	OMIM:309580
HP:0000271	Abnormality of the face	546	ATRX	OMIM:301040
HP:0000271	Abnormality of the face	8546	AP3B1	OMIM:608233
HP:0000271	Abnormality of the face	64919	BCL11B	OMIM:618092
HP:0000271	Abnormality of the face	23036	ZNF292	OMIM:619188
HP:0000271	Abnormality of the face	3070	HELLS	ORPHA:2268
HP:0000271	Abnormality of the face	3070	HELLS	OMIM:616911
HP:0000271	Abnormality of the face	83879	CDCA7	ORPHA:2268
HP:0000271	Abnormality of the face	83879	CDCA7	OMIM:616910
HP:0000271	Abnormality of the face	84300	UQCC2	OMIM:615824
HP:0000271	Abnormality of the face	53834	FGFRL1	OMIM:194190
HP:0000271	Abnormality of the face	10801	SEPTIN9	OMIM:162100
HP:0000271	Abnormality of the face	7025	NR2F1	ORPHA:401777
HP:0000271	Abnormality of the face	7025	NR2F1	OMIM:615722
HP:0000271	Abnormality of the face	51660	MPC1	OMIM:614741
HP:0000271	Abnormality of the face	9508	ADAMTS3	ORPHA:2136
HP:0000271	Abnormality of the face	147372	CCBE1	ORPHA:2136
HP:0000271	Abnormality of the face	147372	CCBE1	OMIM:235510
HP:0000271	Abnormality of the face	10908	PNPLA6	ORPHA:2377
HP:0000271	Abnormality of the face	5828	PEX2	OMIM:614866
HP:0000271	Abnormality of the face	5828	PEX2	ORPHA:912
HP:0000271	Abnormality of the face	3211	HOXB1	OMIM:614744
HP:0000271	Abnormality of the face	54499	TMCO1	OMIM:213980
HP:0000271	Abnormality of the face	54499	TMCO1	ORPHA:1394
HP:0000271	Abnormality of the face	283209	PGM2L1	OMIM:620191
HP:0000271	Abnormality of the face	51611	DPH5	OMIM:620070
HP:0000271	Abnormality of the face	79228	THOC6	ORPHA:363444
HP:0000271	Abnormality of the face	8050	PDHX	OMIM:245349
HP:0000271	Abnormality of the face	5594	MAPK1	OMIM:619087
HP:0000271	Abnormality of the face	10430	TMEM147	OMIM:620075
HP:0000271	Abnormality of the face	8504	PEX3	OMIM:614882
HP:0000271	Abnormality of the face	8504	PEX3	ORPHA:912
HP:0000271	Abnormality of the face	55275	VPS53	OMIM:615851
HP:0000271	Abnormality of the face	5824	PEX19	OMIM:614886
HP:0000271	Abnormality of the face	5824	PEX19	ORPHA:912
HP:0000271	Abnormality of the face	50945	TBX22	ORPHA:921
HP:0000271	Abnormality of the face	92154	MTSS2	OMIM:620086
HP:0000271	Abnormality of the face	5631	PRPS1	OMIM:300661
HP:0000271	Abnormality of the face	171023	ASXL1	OMIM:605039
HP:0000271	Abnormality of the face	55023	PHIP	ORPHA:589905
HP:0000271	Abnormality of the face	55023	PHIP	OMIM:617991
HP:0000271	Abnormality of the face	5781	PTPN11	OMIM:151100
HP:0000271	Abnormality of the face	5781	PTPN11	OMIM:163950
HP:0000271	Abnormality of the face	22907	DHX30	OMIM:617804
HP:0000271	Abnormality of the face	2245	FGD1	ORPHA:915
HP:0000271	Abnormality of the face	1144	CHRND	OMIM:253290
HP:0000271	Abnormality of the face	1134	CHRNA1	OMIM:253290
HP:0000271	Abnormality of the face	55670	PEX26	ORPHA:912
HP:0000271	Abnormality of the face	8799	PEX11B	ORPHA:912
HP:0000271	Abnormality of the face	9409	PEX16	ORPHA:912
HP:0000271	Abnormality of the face	5190	PEX6	ORPHA:912
HP:0000271	Abnormality of the face	5193	PEX12	ORPHA:912
HP:0000271	Abnormality of the face	5194	PEX13	ORPHA:912
HP:0000271	Abnormality of the face	5195	PEX14	ORPHA:912
HP:0000271	Abnormality of the face	5192	PEX10	ORPHA:912
HP:0000271	Abnormality of the face	84627	ZNF469	OMIM:229200
HP:0000271	Abnormality of the face	9780	PIEZO1	OMIM:616843
HP:0000271	Abnormality of the face	23394	ADNP	OMIM:615873
HP:0000271	Abnormality of the face	65062	TMEM237	OMIM:614424
HP:0000271	Abnormality of the face	10586	MAB21L2	OMIM:615877
HP:0000271	Abnormality of the face	85358	SHANK3	OMIM:606232
HP:0000271	Abnormality of the face	85358	SHANK3	ORPHA:48652
HP:0000271	Abnormality of the face	5859	QARS1	OMIM:615760
HP:0000271	Abnormality of the face	169792	GLIS3	OMIM:610199
HP:0000271	Abnormality of the face	10982	MAPRE2	OMIM:616734
HP:0000271	Abnormality of the face	10982	MAPRE2	ORPHA:2505
HP:0000271	Abnormality of the face	55033	FKBP14	OMIM:614557
HP:0000271	Abnormality of the face	5053	PAH	ORPHA:2209
HP:0000271	Abnormality of the face	4131	MAP1B	OMIM:618918
HP:0000271	Abnormality of the face	101929726	MYMX	ORPHA:1358
HP:0000271	Abnormality of the face	5925	RB1	ORPHA:1587
HP:0000271	Abnormality of the face	23511	NUP188	OMIM:618804
HP:0000271	Abnormality of the face	64131	XYLT1	OMIM:615777
HP:0000271	Abnormality of the face	54806	AHI1	OMIM:608629
HP:0000271	Abnormality of the face	10943	MSL3	OMIM:301032
HP:0000271	Abnormality of the face	84342	COG8	OMIM:611182
HP:0000271	Abnormality of the face	57511	COG6	OMIM:614576
HP:0000271	Abnormality of the face	83696	TRAPPC9	ORPHA:352530
HP:0000271	Abnormality of the face	4854	NOTCH3	ORPHA:2789
HP:0000271	Abnormality of the face	80781	COL18A1	ORPHA:1571
HP:0000271	Abnormality of the face	80781	COL18A1	OMIM:267750
HP:0000271	Abnormality of the face	5062	PAK2	ORPHA:1571
HP:0000271	Abnormality of the face	9361	LONP1	ORPHA:1458
HP:0000271	Abnormality of the face	6628	SNRPB	OMIM:117650
HP:0000271	Abnormality of the face	10367	MICU1	OMIM:615673
HP:0000271	Abnormality of the face	51002	TPRKB	OMIM:617731
HP:0000271	Abnormality of the face	4659	PPP1R12A	OMIM:618820
HP:0000271	Abnormality of the face	55617	TASP1	OMIM:618950
HP:0000271	Abnormality of the face	6182	MRPL12	OMIM:618951
HP:0000271	Abnormality of the face	55704	CCDC88A	OMIM:617507
HP:0000271	Abnormality of the face	26503	SLC17A5	OMIM:269920
HP:0000271	Abnormality of the face	1748	DLX4	OMIM:616788
HP:0000271	Abnormality of the face	1663	DDX11	OMIM:613398
HP:0000271	Abnormality of the face	5455	POU3F3	OMIM:618604
HP:0000271	Abnormality of the face	2186	BPTF	OMIM:617755
HP:0000271	Abnormality of the face	738	VPS51	OMIM:618606
HP:0000271	Abnormality of the face	6736	SRY	ORPHA:1772
HP:0000271	Abnormality of the face	84148	KAT8	OMIM:618974
HP:0000271	Abnormality of the face	8449	DHX16	OMIM:618733
HP:0000271	Abnormality of the face	5818	NECTIN1	OMIM:225060
HP:0000271	Abnormality of the face	4094	MAF	OMIM:601088
HP:0000271	Abnormality of the face	55107	ANO1	OMIM:620045
HP:0000271	Abnormality of the face	1009	CDH11	OMIM:211380
HP:0000271	Abnormality of the face	6513	SLC2A1	ORPHA:1942
HP:0000271	Abnormality of the face	8831	SYNGAP1	ORPHA:1942
HP:0000271	Abnormality of the face	1173	AP2M1	ORPHA:1942
HP:0000271	Abnormality of the face	6323	SCN1A	ORPHA:1942
HP:0000271	Abnormality of the face	340533	NEXMIF	ORPHA:1942
HP:0000271	Abnormality of the face	1106	CHD2	ORPHA:1942
HP:0000271	Abnormality of the face	6529	SLC6A1	ORPHA:1942
HP:0000271	Abnormality of the face	78989	COLEC11	OMIM:265050
HP:0000271	Abnormality of the face	5881	RAC3	OMIM:618577
HP:0000271	Abnormality of the face	51305	KCNK9	ORPHA:166108
HP:0000271	Abnormality of the face	4665	NAB2	ORPHA:2126
HP:0000271	Abnormality of the face	6778	STAT6	ORPHA:2126
HP:0000271	Abnormality of the face	63924	CIDEC	ORPHA:435651
HP:0000271	Abnormality of the face	2074	ERCC6	OMIM:133540
HP:0000271	Abnormality of the face	5468	PPARG	ORPHA:79083
HP:0000271	Abnormality of the face	5696	PSMB8	OMIM:256040
HP:0000271	Abnormality of the face	1161	ERCC8	OMIM:216400
HP:0000271	Abnormality of the face	3376	IARS1	OMIM:617093
HP:0000271	Abnormality of the face	3376	IARS1	ORPHA:541423
HP:0000271	Abnormality of the face	91754	NEK9	OMIM:614262
HP:0000271	Abnormality of the face	3008	H1-4	OMIM:617537
HP:0000271	Abnormality of the face	2778	GNAS	ORPHA:94089
HP:0000271	Abnormality of the face	2778	GNAS	OMIM:612463
HP:0000271	Abnormality of the face	2778	GNAS	OMIM:612462
HP:0000271	Abnormality of the face	2778	GNAS	ORPHA:79443
HP:0000271	Abnormality of the face	2778	GNAS	ORPHA:79444
HP:0000271	Abnormality of the face	2778	GNAS	OMIM:103580
HP:0000271	Abnormality of the face	8675	STX16	ORPHA:94089
HP:0000271	Abnormality of the face	8882	ZPR1	OMIM:619321
HP:0000271	Abnormality of the face	6492	SIM1	ORPHA:171829
HP:0000271	Abnormality of the face	63916	ELMO2	ORPHA:3019
HP:0000271	Abnormality of the face	1841	DTYMK	OMIM:619847
HP:0000271	Abnormality of the face	1363	CPE	OMIM:619326
HP:0000271	Abnormality of the face	55904	KMT2E	OMIM:618512
HP:0000271	Abnormality of the face	2542	SLC37A4	ORPHA:79259
HP:0000271	Abnormality of the face	10588	MTHFS	OMIM:618367
HP:0000271	Abnormality of the face	1020	CDK5	OMIM:616342
HP:0000271	Abnormality of the face	2248	FGF3	ORPHA:2791
HP:0000271	Abnormality of the face	5075	PAX1	ORPHA:2792
HP:0000271	Abnormality of the face	84314	TMEM107	ORPHA:564
HP:0000271	Abnormality of the face	79867	TCTN2	ORPHA:564
HP:0000271	Abnormality of the face	79600	TCTN1	ORPHA:564
HP:0000271	Abnormality of the face	57096	RPGRIP1	ORPHA:564
HP:0000271	Abnormality of the face	80184	CEP290	ORPHA:564
HP:0000271	Abnormality of the face	57545	CC2D2A	ORPHA:564
HP:0000271	Abnormality of the face	79583	TMEM231	ORPHA:564
HP:0000271	Abnormality of the face	91147	TMEM67	ORPHA:564
HP:0000271	Abnormality of the face	79770	TXNDC15	ORPHA:564
HP:0000271	Abnormality of the face	23322	RPGRIP1L	ORPHA:564
HP:0000271	Abnormality of the face	54903	MKS1	ORPHA:564
HP:0000271	Abnormality of the face	5723	PSPH	ORPHA:79350
HP:0000271	Abnormality of the face	1906	EDN1	ORPHA:137888
HP:0000271	Abnormality of the face	1906	EDN1	OMIM:615706
HP:0000271	Abnormality of the face	5332	PLCB4	ORPHA:137888
HP:0000271	Abnormality of the face	9244	CRLF1	OMIM:272430
HP:0000271	Abnormality of the face	9244	CRLF1	ORPHA:1545
HP:0000271	Abnormality of the face	55975	KLHL7	OMIM:617055
HP:0000271	Abnormality of the face	55027	HEATR3	OMIM:620072
HP:0000271	Abnormality of the face	6452	SH3BP2	ORPHA:184
HP:0000271	Abnormality of the face	51124	IER3IP1	OMIM:614231
HP:0000271	Abnormality of the face	23067	SETD1B	OMIM:619000
HP:0000271	Abnormality of the face	6901	TAFAZZIN	OMIM:302060
HP:0000271	Abnormality of the face	9895	TECPR2	ORPHA:320385
HP:0000271	Abnormality of the face	23162	MAPK8IP3	OMIM:618443
HP:0000271	Abnormality of the face	23483	TGDS	OMIM:616145
HP:0000271	Abnormality of the face	23483	TGDS	ORPHA:1388
HP:0000271	Abnormality of the face	5116	PCNT	ORPHA:2637
HP:0000271	Abnormality of the face	1968	EIF2S3	ORPHA:85282
HP:0000271	Abnormality of the face	8813	DPM1	ORPHA:79322
HP:0000271	Abnormality of the face	23529	CLCF1	ORPHA:1545
HP:0000271	Abnormality of the face	178	AGL	ORPHA:366
HP:0000271	Abnormality of the face	27445	PCLO	OMIM:608027
HP:0000271	Abnormality of the face	4054	LTBP3	OMIM:617809
HP:0000271	Abnormality of the face	3479	IGF1	ORPHA:73272
HP:0000271	Abnormality of the face	11113	CIT	OMIM:617090
HP:0000271	Abnormality of the face	8243	SMC1A	OMIM:300590
HP:0000271	Abnormality of the face	8243	SMC1A	OMIM:301044
HP:0000271	Abnormality of the face	8243	SMC1A	ORPHA:199
HP:0000271	Abnormality of the face	10128	LRPPRC	OMIM:220111
HP:0000271	Abnormality of the face	25970	SH2B1	ORPHA:261222
HP:0000271	Abnormality of the face	7545	ZIC1	OMIM:616602
HP:0000271	Abnormality of the face	7545	ZIC1	OMIM:618736
HP:0000271	Abnormality of the face	55869	HDAC8	OMIM:300882
HP:0000271	Abnormality of the face	55869	HDAC8	ORPHA:199
HP:0000271	Abnormality of the face	55690	PACS1	OMIM:615009
HP:0000271	Abnormality of the face	55690	PACS1	ORPHA:329224
HP:0000271	Abnormality of the face	4081	MAB21L1	OMIM:618479
HP:0000271	Abnormality of the face	80055	PGAP1	OMIM:615802
HP:0000271	Abnormality of the face	318	NUDT2	OMIM:619844
HP:0000271	Abnormality of the face	55780	ERMARD	ORPHA:75857
HP:0000271	Abnormality of the face	5934	RBL2	OMIM:619690
HP:0000271	Abnormality of the face	83999	KREMEN1	OMIM:617392
HP:0000271	Abnormality of the face	55870	ASH1L	OMIM:617796
HP:0000271	Abnormality of the face	79029	AFG2B	OMIM:619616
HP:0000271	Abnormality of the face	23065	EMC1	OMIM:616875
HP:0000271	Abnormality of the face	23065	EMC1	ORPHA:480898
HP:0000271	Abnormality of the face	128637	TBC1D20	OMIM:615663
HP:0000271	Abnormality of the face	57572	DOCK6	OMIM:614219
HP:0000271	Abnormality of the face	23476	BRD4	ORPHA:199
HP:0000271	Abnormality of the face	25836	NIPBL	ORPHA:199
HP:0000271	Abnormality of the face	5885	RAD21	ORPHA:199
HP:0000271	Abnormality of the face	6938	TCF12	OMIM:615314
HP:0000271	Abnormality of the face	22931	RAB18	OMIM:614222
HP:0000271	Abnormality of the face	85440	DOCK7	ORPHA:411986
HP:0000271	Abnormality of the face	85440	DOCK7	OMIM:615859
HP:0000271	Abnormality of the face	80036	TRPM3	OMIM:620224
HP:0000271	Abnormality of the face	5184	PEPD	ORPHA:742
HP:0000271	Abnormality of the face	253959	RALGAPA1	OMIM:618797
HP:0000271	Abnormality of the face	91875	TTC5	OMIM:619244
HP:0000271	Abnormality of the face	440138	ALG11	OMIM:613661
HP:0000271	Abnormality of the face	55691	FRMD4A	OMIM:616819
HP:0000271	Abnormality of the face	55691	FRMD4A	ORPHA:466688
HP:0000271	Abnormality of the face	10555	AGPAT2	ORPHA:528
HP:0000271	Abnormality of the face	284119	CAVIN1	ORPHA:528
HP:0000271	Abnormality of the face	2353	FOS	ORPHA:528
HP:0000271	Abnormality of the face	857	CAV1	ORPHA:528
HP:0000271	Abnormality of the face	6878	TAF6	OMIM:617126
HP:0000271	Abnormality of the face	9990	SLC12A6	OMIM:218000
HP:0000271	Abnormality of the face	2538	G6PC1	OMIM:232200
HP:0000271	Abnormality of the face	8635	RNASET2	OMIM:612951
HP:0000271	Abnormality of the face	6514	SLC2A2	ORPHA:2088
HP:0000271	Abnormality of the face	7528	YY1	ORPHA:506358
HP:0000271	Abnormality of the face	7528	YY1	OMIM:617557
HP:0000271	Abnormality of the face	5518	PPP2R1A	OMIM:616362
HP:0000271	Abnormality of the face	5518	PPP2R1A	ORPHA:457284
HP:0000271	Abnormality of the face	55768	NGLY1	OMIM:615273
HP:0000271	Abnormality of the face	55768	NGLY1	ORPHA:404454
HP:0000271	Abnormality of the face	27107	ZBTB11	OMIM:618383
HP:0000271	Abnormality of the face	2892	GRIA3	ORPHA:364028
HP:0000271	Abnormality of the face	23126	POGZ	OMIM:616364
HP:0000271	Abnormality of the face	23126	POGZ	ORPHA:468678
HP:0000271	Abnormality of the face	6418	SET	OMIM:618106
HP:0000271	Abnormality of the face	9499	MYOT	ORPHA:266
HP:0000271	Abnormality of the face	2548	GAA	ORPHA:308552
HP:0000271	Abnormality of the face	23030	KDM4B	OMIM:619320
HP:0000271	Abnormality of the face	200424	TET3	OMIM:618798
HP:0000271	Abnormality of the face	271	AMPD2	OMIM:615809
HP:0000271	Abnormality of the face	8242	KDM5C	OMIM:300534
HP:0000271	Abnormality of the face	10463	SLC30A9	OMIM:617595
HP:0000271	Abnormality of the face	1778	DYNC1H1	OMIM:614563
HP:0000271	Abnormality of the face	157680	VPS13B	OMIM:216550
HP:0000271	Abnormality of the face	1760	DMPK	ORPHA:589821
HP:0000271	Abnormality of the face	5081	PAX7	OMIM:618578
HP:0000271	Abnormality of the face	64132	XYLT2	ORPHA:85194
HP:0000271	Abnormality of the face	9230	RAB11B	OMIM:617807
HP:0000271	Abnormality of the face	2218	FKTN	ORPHA:272
HP:0000271	Abnormality of the face	2218	FKTN	OMIM:236670
HP:0000271	Abnormality of the face	3763	KCNJ6	ORPHA:435628
HP:0000271	Abnormality of the face	79876	UBA5	OMIM:617132
HP:0000271	Abnormality of the face	10159	ATP6AP2	ORPHA:363654
HP:0000271	Abnormality of the face	8106	PABPN1	ORPHA:270
HP:0000271	Abnormality of the face	8106	PABPN1	OMIM:164300
HP:0000271	Abnormality of the face	4361	MRE11	ORPHA:251347
HP:0000271	Abnormality of the face	58	ACTA1	OMIM:161800
HP:0000271	Abnormality of the face	22947	DUX4L1	ORPHA:269
HP:0000271	Abnormality of the face	2483	FRG1	ORPHA:269
HP:0000271	Abnormality of the face	23347	SMCHD1	ORPHA:269
HP:0000271	Abnormality of the face	100288687	DUX4	ORPHA:269
HP:0000271	Abnormality of the face	6535	SLC6A8	ORPHA:52503
HP:0000271	Abnormality of the face	7084	TK2	ORPHA:254886
HP:0000271	Abnormality of the face	5428	POLG	ORPHA:254886
HP:0000271	Abnormality of the face	5621	PRNP	ORPHA:157941
HP:0000271	Abnormality of the face	79152	FA2H	ORPHA:171629
HP:0000271	Abnormality of the face	5610	EIF2AK2	OMIM:618877
HP:0000271	Abnormality of the face	22954	TRIM32	ORPHA:1878
HP:0000271	Abnormality of the face	29954	POMT2	OMIM:236670
HP:0000271	Abnormality of the face	9215	LARGE1	OMIM:236670
HP:0000271	Abnormality of the face	79147	FKRP	OMIM:236670
HP:0000271	Abnormality of the face	10585	POMT1	OMIM:236670
HP:0000271	Abnormality of the face	7054	TH	OMIM:605407
HP:0000271	Abnormality of the face	5080	PAX6	ORPHA:1065
HP:0000271	Abnormality of the face	3708	ITPR1	ORPHA:1065
HP:0000271	Abnormality of the face	6575	SLC20A2	OMIM:213600
HP:0000271	Abnormality of the face	5155	PDGFB	OMIM:213600
HP:0000271	Abnormality of the face	23400	ATP13A2	OMIM:606693
HP:0000271	Abnormality of the face	538	ATP7A	ORPHA:565
HP:0000271	Abnormality of the face	80025	PANK2	ORPHA:216866
HP:0000271	Abnormality of the face	523	ATP6V1A	OMIM:617403
HP:0000271	Abnormality of the face	2747	GLUD2	OMIM:168600
HP:0000271	Abnormality of the face	126	ADH1C	OMIM:168600
HP:0000271	Abnormality of the face	4137	MAPT	OMIM:168600
HP:0000271	Abnormality of the face	2629	GBA1	OMIM:168600
HP:0000271	Abnormality of the face	4929	NR4A2	OMIM:168600
HP:0000271	Abnormality of the face	6908	TBP	OMIM:168600
HP:0000271	Abnormality of the face	4576	MT-TT	OMIM:168600
HP:0000271	Abnormality of the face	9627	SNCAIP	OMIM:168600
HP:0000271	Abnormality of the face	6311	ATXN2	OMIM:168600
HP:0000271	Abnormality of the face	6315	ATXN8OS	OMIM:168600
HP:0000271	Abnormality of the face	1639	DCTN1	OMIM:168605
HP:0000271	Abnormality of the face	6840	SVIL	OMIM:619040
HP:0000271	Abnormality of the face	535	ATP6V0A1	OMIM:619971
HP:0000271	Abnormality of the face	23291	FBXW11	OMIM:618914
HP:0000271	Abnormality of the face	6928	HNF1B	ORPHA:93111
HP:0000271	Abnormality of the face	5521	PPP2R2B	OMIM:604326
HP:0000271	Abnormality of the face	111	ADCY5	OMIM:606703
HP:0000271	Abnormality of the face	111	ADCY5	ORPHA:324588
HP:0000271	Abnormality of the face	6712	SPTBN2	OMIM:600224
HP:0000271	Abnormality of the face	5582	PRKCG	OMIM:605361
HP:0000271	Abnormality of the face	8943	AP3D1	OMIM:617050
HP:0000271	Abnormality of the face	10111	RAD50	OMIM:613078
HP:0000271	Abnormality of the face	10559	SLC35A1	OMIM:603585
HP:0000271	Abnormality of the face	208	AKT2	OMIM:240900
HP:0000271	Abnormality of the face	7809	BSND	ORPHA:89938
HP:0000271	Abnormality of the face	1188	CLCNKB	ORPHA:89938
HP:0000271	Abnormality of the face	1187	CLCNKA	ORPHA:89938
HP:0000271	Abnormality of the face	5352	PLOD2	ORPHA:2771
HP:0000271	Abnormality of the face	9630	GNA14	ORPHA:1063
HP:0000271	Abnormality of the face	388753	COA6	OMIM:616501
HP:0000271	Abnormality of the face	9338	TCEAL1	OMIM:301094
HP:0000271	Abnormality of the face	6571	SLC18A2	OMIM:618049
HP:0000271	Abnormality of the face	6571	SLC18A2	ORPHA:352649
HP:0000271	Abnormality of the face	55532	SLC30A10	ORPHA:309854
HP:0000271	Abnormality of the face	58494	JAM2	OMIM:618824
HP:0000271	Abnormality of the face	6531	SLC6A3	OMIM:613135
HP:0000271	Abnormality of the face	6531	SLC6A3	ORPHA:238455
HP:0000271	Abnormality of the face	10935	PRDX3	OMIM:619862
HP:0000271	Abnormality of the face	25793	FBXO7	ORPHA:171695
HP:0000271	Abnormality of the face	25793	FBXO7	OMIM:260300
HP:0000271	Abnormality of the face	54862	CC2D1A	OMIM:608443
HP:0000271	Abnormality of the face	27238	GPKOW	ORPHA:2570
HP:0000271	Abnormality of the face	27341	RRP7A	OMIM:619453
HP:0000271	Abnormality of the face	26276	VPS33B	OMIM:208085
HP:0000271	Abnormality of the face	63894	VIPAS39	OMIM:613404
HP:0000271	Abnormality of the face	80347	COASY	OMIM:618266
HP:0000271	Abnormality of the face	9918	NCAPD2	OMIM:617983
HP:0000271	Abnormality of the face	23397	NCAPH	OMIM:617985
HP:0000271	Abnormality of the face	440	ASNS	OMIM:615574
HP:0000271	Abnormality of the face	51399	TRAPPC4	OMIM:618741
HP:0000271	Abnormality of the face	51608	GET4	OMIM:620200
HP:0000271	Abnormality of the face	28957	MRPS28	OMIM:618958
HP:0000271	Abnormality of the face	23729	SHPK	ORPHA:440713
HP:0000271	Abnormality of the face	537	ATP6AP1	OMIM:300972
HP:0000271	Abnormality of the face	3081	HGD	ORPHA:56
HP:0000271	Abnormality of the face	6697	SPR	ORPHA:70594
HP:0000271	Abnormality of the face	55773	TBC1D23	OMIM:617695
HP:0000271	Abnormality of the face	87	ACTN1	OMIM:615193
HP:0000271	Abnormality of the face	2057	EPOR	ORPHA:90042
HP:0000271	Abnormality of the face	5568	PRKACG	OMIM:616176
HP:0000271	Abnormality of the face	2120	ETV6	OMIM:616216
HP:0000271	Abnormality of the face	10235	RASGRP2	OMIM:615888
HP:0000271	Abnormality of the face	23218	NBEAL2	OMIM:139090
HP:0000271	Abnormality of the face	23218	NBEAL2	ORPHA:721
HP:0000271	Abnormality of the face	2533	FYB1	OMIM:273900
HP:0000271	Abnormality of the face	51206	GP6	OMIM:614201
HP:0000271	Abnormality of the face	2160	F11	ORPHA:329
HP:0000271	Abnormality of the face	861	RUNX1	OMIM:601399
HP:0000271	Abnormality of the face	776	CACNA1D	ORPHA:369929
HP:0000271	Abnormality of the face	55340	GIMAP5	OMIM:619463
HP:0000271	Abnormality of the face	5328	PLAU	OMIM:601709
HP:0000271	Abnormality of the face	342618	SLFN14	OMIM:616913
HP:0000271	Abnormality of the face	7450	VWF	OMIM:193400
HP:0000271	Abnormality of the face	7450	VWF	OMIM:613554
HP:0000271	Abnormality of the face	7450	VWF	OMIM:277480
HP:0000271	Abnormality of the face	83706	FERMT3	OMIM:612840
HP:0000271	Abnormality of the face	5205	ATP8B1	OMIM:211600
HP:0000271	Abnormality of the face	64805	P2RY12	OMIM:609821
HP:0000271	Abnormality of the face	5054	SERPINE1	ORPHA:465
HP:0000271	Abnormality of the face	89781	HPS4	OMIM:614073
HP:0000271	Abnormality of the face	11234	HPS5	OMIM:614074
HP:0000271	Abnormality of the face	79803	HPS6	OMIM:614075
HP:0000271	Abnormality of the face	84062	DTNBP1	OMIM:614076
HP:0000271	Abnormality of the face	5921	RASA1	ORPHA:137667
HP:0000271	Abnormality of the face	6915	TBXA2R	OMIM:614009
HP:0000271	Abnormality of the face	1181	CLCN2	ORPHA:404
HP:0000271	Abnormality of the face	1584	CYP11B1	ORPHA:403
HP:0000271	Abnormality of the face	1585	CYP11B2	ORPHA:403
HP:0000271	Abnormality of the face	8328	GFI1B	OMIM:187900
HP:0000271	Abnormality of the face	91647	ATPAF2	OMIM:604273
HP:0000271	Abnormality of the face	57038	RARS2	OMIM:611523
HP:0000271	Abnormality of the face	64220	STRA6	OMIM:601186
HP:0000271	Abnormality of the face	51319	RSRC1	OMIM:618402
HP:0000271	Abnormality of the face	55621	TRMT1	OMIM:618302
HP:0000271	Abnormality of the face	5593	PRKG2	OMIM:619636
HP:0000271	Abnormality of the face	23114	NFASC	OMIM:618356
HP:0000271	Abnormality of the face	745	MYRF	OMIM:618280
HP:0000271	Abnormality of the face	1509	CTSD	OMIM:610127
HP:0000271	Abnormality of the face	55603	TENT5A	OMIM:617952
HP:0000271	Abnormality of the face	25914	RTTN	ORPHA:468631
HP:0000271	Abnormality of the face	114928	GPRASP2	OMIM:301018
HP:0000271	Abnormality of the face	256297	PTF1A	OMIM:609069
HP:0000271	Abnormality of the face	79840	NHEJ1	ORPHA:169079
HP:0000271	Abnormality of the face	29980	DONSON	OMIM:617604
HP:0000271	Abnormality of the face	29980	DONSON	OMIM:251230
HP:0000271	Abnormality of the face	95	ACY1	ORPHA:137754
HP:0000271	Abnormality of the face	54820	NDE1	ORPHA:89844
HP:0000271	Abnormality of the face	4193	MDM2	OMIM:618681
HP:0000271	Abnormality of the face	658	BMPR1B	ORPHA:2639
HP:0000271	Abnormality of the face	51199	NIN	OMIM:614851
HP:0000271	Abnormality of the face	51199	NIN	ORPHA:319675
HP:0000271	Abnormality of the face	3675	ITGA3	OMIM:614748
HP:0000271	Abnormality of the face	10436	EMG1	ORPHA:1270
HP:0000271	Abnormality of the face	10436	EMG1	OMIM:211180
HP:0000271	Abnormality of the face	6786	STIM1	OMIM:185070
HP:0000271	Abnormality of the face	8218	CLTCL1	ORPHA:453510
HP:0000271	Abnormality of the face	2904	GRIN2B	OMIM:613970
HP:0000271	Abnormality of the face	4072	EPCAM	ORPHA:92050
HP:0000271	Abnormality of the face	105371045	PERCC1	ORPHA:92050
HP:0000271	Abnormality of the face	63925	ZNF335	OMIM:615095
HP:0000271	Abnormality of the face	10653	SPINT2	OMIM:270420
HP:0000271	Abnormality of the face	79184	BRCC3	ORPHA:280679
HP:0000271	Abnormality of the face	112939	NACC1	ORPHA:500545
HP:0000271	Abnormality of the face	112939	NACC1	OMIM:617393
HP:0000271	Abnormality of the face	5915	RARB	OMIM:615524
HP:0000271	Abnormality of the face	170692	ADAMTS18	OMIM:615458
HP:0000271	Abnormality of the face	2688	GH1	OMIM:262400
HP:0000271	Abnormality of the face	26227	PHGDH	OMIM:256520
HP:0000271	Abnormality of the face	3170	FOXA2	ORPHA:95494
HP:0000271	Abnormality of the face	199221	DZIP1L	ORPHA:731
HP:0000271	Abnormality of the face	4808	NHLH2	OMIM:619755
HP:0000271	Abnormality of the face	5264	PHYH	OMIM:266500
HP:0000271	Abnormality of the face	5264	PHYH	ORPHA:773
HP:0000271	Abnormality of the face	6658	SOX3	ORPHA:3157
HP:0000271	Abnormality of the face	9927	MFN2	OMIM:601152
HP:0000271	Abnormality of the face	10300	KATNB1	OMIM:616212
HP:0000271	Abnormality of the face	72	ACTG2	ORPHA:2604
HP:0000271	Abnormality of the face	54968	TMEM70	OMIM:614052
HP:0000271	Abnormality of the face	8493	PPM1D	OMIM:617450
HP:0000271	Abnormality of the face	5792	PTPRF	OMIM:616001
HP:0000271	Abnormality of the face	8733	GPAA1	ORPHA:529665
HP:0000271	Abnormality of the face	8733	GPAA1	OMIM:617810
HP:0000271	Abnormality of the face	9928	KIF14	OMIM:616258
HP:0000271	Abnormality of the face	92840	REEP6	ORPHA:791
HP:0000271	Abnormality of the face	6094	ROM1	ORPHA:791
HP:0000271	Abnormality of the face	6017	RLBP1	ORPHA:791
HP:0000271	Abnormality of the face	7401	CLRN1	ORPHA:791
HP:0000271	Abnormality of the face	24	ABCA4	ORPHA:791
HP:0000271	Abnormality of the face	130557	ZNF513	ORPHA:791
HP:0000271	Abnormality of the face	92211	CDHR1	ORPHA:791
HP:0000271	Abnormality of the face	23568	ARL2BP	ORPHA:791
HP:0000271	Abnormality of the face	6121	RPE65	ORPHA:791
HP:0000271	Abnormality of the face	6101	RP1	ORPHA:791
HP:0000271	Abnormality of the face	3419	IDH3A	ORPHA:791
HP:0000271	Abnormality of the face	4751	NEK2	ORPHA:791
HP:0000271	Abnormality of the face	346007	EYS	ORPHA:791
HP:0000271	Abnormality of the face	8100	IFT88	ORPHA:791
HP:0000271	Abnormality of the face	23020	SNRNP200	ORPHA:791
HP:0000271	Abnormality of the face	762	CA4	ORPHA:791
HP:0000271	Abnormality of the face	196	AHR	ORPHA:791
HP:0000271	Abnormality of the face	3614	IMPDH1	ORPHA:791
HP:0000271	Abnormality of the face	1406	CRX	ORPHA:791
HP:0000271	Abnormality of the face	5148	PDE6G	ORPHA:791
HP:0000271	Abnormality of the face	26121	PRPF31	ORPHA:791
HP:0000271	Abnormality of the face	4117	MAK	ORPHA:791
HP:0000271	Abnormality of the face	25794	FSCN2	ORPHA:791
HP:0000271	Abnormality of the face	375298	CERKL	ORPHA:791
HP:0000271	Abnormality of the face	3420	IDH3B	ORPHA:791
HP:0000271	Abnormality of the face	57670	KIAA1549	ORPHA:791
HP:0000271	Abnormality of the face	7275	TUB	ORPHA:791
HP:0000271	Abnormality of the face	24148	PRPF6	ORPHA:791
HP:0000271	Abnormality of the face	23418	CRB1	ORPHA:791
HP:0000271	Abnormality of the face	10461	MERTK	ORPHA:791
HP:0000271	Abnormality of the face	57709	SLC7A14	ORPHA:791
HP:0000271	Abnormality of the face	768206	PRCD	ORPHA:791
HP:0000271	Abnormality of the face	7399	USH2A	ORPHA:791
HP:0000271	Abnormality of the face	23370	ARHGEF18	ORPHA:791
HP:0000271	Abnormality of the face	5949	RBP3	ORPHA:791
HP:0000271	Abnormality of the face	6010	RHO	ORPHA:791
HP:0000271	Abnormality of the face	6100	RP9	ORPHA:791
HP:0000271	Abnormality of the face	10002	NR2E3	ORPHA:791
HP:0000271	Abnormality of the face	9227	LRAT	ORPHA:791
HP:0000271	Abnormality of the face	84140	FAM161A	ORPHA:791
HP:0000271	Abnormality of the face	55812	SPATA7	ORPHA:791
HP:0000271	Abnormality of the face	79797	ZNF408	ORPHA:791
HP:0000271	Abnormality of the face	5145	PDE6A	ORPHA:791
HP:0000271	Abnormality of the face	8842	PROM1	ORPHA:791
HP:0000271	Abnormality of the face	9128	PRPF4	ORPHA:791
HP:0000271	Abnormality of the face	145226	RDH12	ORPHA:791
HP:0000271	Abnormality of the face	50939	IMPG2	ORPHA:791
HP:0000271	Abnormality of the face	2979	GUCA1B	ORPHA:791
HP:0000271	Abnormality of the face	1259	CNGA1	ORPHA:791
HP:0000271	Abnormality of the face	1258	CNGB1	ORPHA:791
HP:0000271	Abnormality of the face	60509	AGBL5	ORPHA:791
HP:0000271	Abnormality of the face	5961	PRPH2	ORPHA:791
HP:0000271	Abnormality of the face	388939	PCARE	ORPHA:791
HP:0000271	Abnormality of the face	7439	BEST1	ORPHA:791
HP:0000271	Abnormality of the face	9785	DHX38	ORPHA:791
HP:0000271	Abnormality of the face	7287	TULP1	ORPHA:791
HP:0000271	Abnormality of the face	5995	RGR	ORPHA:791
HP:0000271	Abnormality of the face	9129	PRPF3	ORPHA:791
HP:0000271	Abnormality of the face	3617	IMPG1	ORPHA:791
HP:0000271	Abnormality of the face	94137	RP1L1	ORPHA:791
HP:0000271	Abnormality of the face	5158	PDE6B	ORPHA:791
HP:0000271	Abnormality of the face	6102	RP2	ORPHA:791
HP:0000271	Abnormality of the face	55857	KIZ	ORPHA:791
HP:0000271	Abnormality of the face	64218	SEMA4A	ORPHA:791
HP:0000271	Abnormality of the face	4901	NRL	ORPHA:791
HP:0000271	Abnormality of the face	10594	PRPF8	ORPHA:791
HP:0000271	Abnormality of the face	6295	SAG	ORPHA:791
HP:0000271	Abnormality of the face	1781	DYNC1I2	OMIM:618492
HP:0000271	Abnormality of the face	84842	HPDL	OMIM:619026
HP:0000271	Abnormality of the face	5119	CHMP1A	OMIM:614961
HP:0000271	Abnormality of the face	3097	HIVEP2	OMIM:616977
HP:0000271	Abnormality of the face	91137	SLC25A46	OMIM:616505
HP:0000271	Abnormality of the face	6911	TBX6	ORPHA:1797
HP:0000271	Abnormality of the face	100506658	OCLN	OMIM:251290
HP:0000271	Abnormality of the face	4848	CNOT2	OMIM:618608
HP:0000271	Abnormality of the face	23334	SZT2	OMIM:615476
HP:0000271	Abnormality of the face	23334	SZT2	ORPHA:442835
HP:0000271	Abnormality of the face	3737	KCNA2	ORPHA:442835
HP:0000271	Abnormality of the face	10991	SLC38A3	ORPHA:442835
HP:0000271	Abnormality of the face	51343	FZR1	ORPHA:442835
HP:0000271	Abnormality of the face	22906	TRAK1	ORPHA:442835
HP:0000271	Abnormality of the face	2566	GABRG2	ORPHA:442835
HP:0000271	Abnormality of the face	2561	GABRB2	ORPHA:442835
HP:0000271	Abnormality of the face	7532	YWHAG	ORPHA:442835
HP:0000271	Abnormality of the face	2558	GABRA5	ORPHA:442835
HP:0000271	Abnormality of the face	781	CACNA2D1	ORPHA:442835
HP:0000271	Abnormality of the face	2906	GRIN2D	ORPHA:442835
HP:0000271	Abnormality of the face	116150	NUS1	ORPHA:442835
HP:0000271	Abnormality of the face	10659	CELF2	ORPHA:442835
HP:0000271	Abnormality of the face	774	CACNA1B	ORPHA:442835
HP:0000271	Abnormality of the face	1213	CLTC	ORPHA:442835
HP:0000271	Abnormality of the face	51412	ACTL6B	ORPHA:442835
HP:0000271	Abnormality of the face	348980	HCN1	ORPHA:442835
HP:0000271	Abnormality of the face	6506	SLC1A2	ORPHA:442835
HP:0000271	Abnormality of the face	2258	FGF13	ORPHA:442835
HP:0000271	Abnormality of the face	3745	KCNB1	ORPHA:442835
HP:0000271	Abnormality of the face	284111	SLC13A5	ORPHA:442835
HP:0000271	Abnormality of the face	25977	NECAP1	ORPHA:442835
HP:0000271	Abnormality of the face	6334	SCN8A	ORPHA:442835
HP:0000271	Abnormality of the face	22866	CNKSR2	ORPHA:442835
HP:0000271	Abnormality of the face	9568	GABBR2	ORPHA:442835
HP:0000271	Abnormality of the face	2555	GABRA2	ORPHA:442835
HP:0000271	Abnormality of the face	55152	DALRD3	ORPHA:442835
HP:0000271	Abnormality of the face	26999	CYFIP2	ORPHA:442835
HP:0000271	Abnormality of the face	4915	NTRK2	ORPHA:442835
HP:0000271	Abnormality of the face	64801	ARV1	ORPHA:442835
HP:0000271	Abnormality of the face	79947	DHDDS	ORPHA:442835
HP:0000271	Abnormality of the face	2257	FGF12	ORPHA:442835
HP:0000271	Abnormality of the face	3476	IGBP1	ORPHA:52055
HP:0000271	Abnormality of the face	3476	IGBP1	OMIM:300472
HP:0000271	Abnormality of the face	92482	BBIP1	ORPHA:110
HP:0000271	Abnormality of the face	582	BBS1	ORPHA:110
HP:0000271	Abnormality of the face	49855	SCAPER	ORPHA:110
HP:0000271	Abnormality of the face	27241	BBS9	ORPHA:110
HP:0000271	Abnormality of the face	84984	CEP19	ORPHA:110
HP:0000271	Abnormality of the face	79738	BBS10	ORPHA:110
HP:0000271	Abnormality of the face	123016	TTC8	ORPHA:110
HP:0000271	Abnormality of the face	26160	IFT172	ORPHA:110
HP:0000271	Abnormality of the face	583	BBS2	ORPHA:110
HP:0000271	Abnormality of the face	585	BBS4	ORPHA:110
HP:0000271	Abnormality of the face	8195	MKKS	ORPHA:110
HP:0000271	Abnormality of the face	166379	BBS12	ORPHA:110
HP:0000271	Abnormality of the face	10806	SDCCAG8	ORPHA:110
HP:0000271	Abnormality of the face	157657	CFAP418	ORPHA:110
HP:0000271	Abnormality of the face	84100	ARL6	ORPHA:110
HP:0000271	Abnormality of the face	129880	BBS5	ORPHA:110
HP:0000271	Abnormality of the face	7862	BRPF1	OMIM:617333
HP:0000271	Abnormality of the face	57680	CHD8	OMIM:615032
HP:0000271	Abnormality of the face	4598	MVK	ORPHA:29
HP:0000271	Abnormality of the face	4598	MVK	OMIM:610377
HP:0000271	Abnormality of the face	10765	KDM5B	OMIM:618109
HP:0000271	Abnormality of the face	7372	UMPS	ORPHA:30
HP:0000271	Abnormality of the face	3417	IDH1	ORPHA:99646
HP:0000271	Abnormality of the face	372	ARCN1	OMIM:617164
HP:0000271	Abnormality of the face	23112	TNRC6B	OMIM:619243
HP:0000271	Abnormality of the face	57020	VPS35L	OMIM:619135
HP:0000271	Abnormality of the face	7042	TGFB2	OMIM:614816
HP:0000271	Abnormality of the face	84282	RNF135	ORPHA:137634
HP:0000271	Abnormality of the face	8854	ALDH1A2	OMIM:620025
HP:0000271	Abnormality of the face	55148	UBR7	OMIM:619189
HP:0000271	Abnormality of the face	197257	LDHD	OMIM:245450
HP:0000271	Abnormality of the face	8929	PHOX2B	OMIM:209880
HP:0000271	Abnormality of the face	91461	PKDCC	OMIM:618821
HP:0000271	Abnormality of the face	3778	KCNMA1	OMIM:618729
HP:0000271	Abnormality of the face	18	ABAT	OMIM:613163
HP:0000271	Abnormality of the face	9181	ARHGEF2	OMIM:617523
HP:0000271	Abnormality of the face	55753	OGDHL	OMIM:619701
HP:0000271	Abnormality of the face	348	APOE	ORPHA:158029
HP:0000271	Abnormality of the face	6868	ADAM17	OMIM:614328
HP:0000271	Abnormality of the face	6868	ADAM17	ORPHA:294023
HP:0000271	Abnormality of the face	7454	WAS	ORPHA:906
HP:0000271	Abnormality of the face	7456	WIPF1	ORPHA:906
HP:0000271	Abnormality of the face	10095	ARPC1B	OMIM:617718
HP:0000271	Abnormality of the face	6768	ST14	OMIM:602400
HP:0000271	Abnormality of the face	55630	SLC39A4	ORPHA:37
HP:0000271	Abnormality of the face	10758	TRAF3IP2	OMIM:615527
HP:0000271	Abnormality of the face	1474	CST6	OMIM:618535
HP:0000271	Abnormality of the face	6307	MSMO1	OMIM:616834
HP:0000271	Abnormality of the face	1956	EGFR	ORPHA:294023
HP:0000271	Abnormality of the face	7507	XPA	ORPHA:910
HP:0000271	Abnormality of the face	7508	XPC	ORPHA:910
HP:0000271	Abnormality of the face	1643	DDB2	ORPHA:910
HP:0000271	Abnormality of the face	2073	ERCC5	ORPHA:910
HP:0000271	Abnormality of the face	147409	DSG4	ORPHA:573
HP:0000271	Abnormality of the face	3892	KRT86	ORPHA:573
HP:0000271	Abnormality of the face	3889	KRT83	ORPHA:573
HP:0000271	Abnormality of the face	3887	KRT81	ORPHA:573
HP:0000271	Abnormality of the face	1041	CDSN	ORPHA:90368
HP:0000271	Abnormality of the face	121391	KRT74	ORPHA:90368
HP:0000271	Abnormality of the face	121391	KRT74	OMIM:194300
HP:0000271	Abnormality of the face	121391	KRT74	OMIM:613981
HP:0000271	Abnormality of the face	85378	TUBGCP6	ORPHA:2518
HP:0000271	Abnormality of the face	27229	TUBGCP4	ORPHA:2518
HP:0000271	Abnormality of the face	10733	PLK4	ORPHA:2518
HP:0000271	Abnormality of the face	124583	CANT1	ORPHA:1425
HP:0000271	Abnormality of the face	54539	NDUFB11	ORPHA:2556
HP:0000271	Abnormality of the face	1349	COX7B	ORPHA:2556
HP:0000271	Abnormality of the face	3052	HCCS	ORPHA:2556
HP:0000271	Abnormality of the face	80169	CTC1	ORPHA:1775
HP:0000271	Abnormality of the face	26277	TINF2	ORPHA:1775
HP:0000271	Abnormality of the face	55651	NHP2	ORPHA:1775
HP:0000271	Abnormality of the face	55135	WRAP53	ORPHA:1775
HP:0000271	Abnormality of the face	51750	RTEL1	ORPHA:1775
HP:0000271	Abnormality of the face	4869	NPM1	ORPHA:1775
HP:0000271	Abnormality of the face	7012	TERC	ORPHA:1775
HP:0000271	Abnormality of the face	55505	NOP10	ORPHA:1775
HP:0000271	Abnormality of the face	5073	PARN	ORPHA:1775
HP:0000271	Abnormality of the face	1736	DKC1	ORPHA:1775
HP:0000271	Abnormality of the face	7298	TYMS	ORPHA:1775
HP:0000271	Abnormality of the face	355	FAS	ORPHA:3437
HP:0000271	Abnormality of the face	26191	PTPN22	ORPHA:3437
HP:0000271	Abnormality of the face	5333	PLCD1	ORPHA:2387
HP:0000271	Abnormality of the face	3851	KRT4	OMIM:193900
HP:0000271	Abnormality of the face	55129	ANO10	ORPHA:284289
HP:0000271	Abnormality of the face	55129	ANO10	OMIM:613728
HP:0000271	Abnormality of the face	128	ADH5	OMIM:619151
HP:0000271	Abnormality of the face	7299	TYR	ORPHA:895
HP:0000271	Abnormality of the face	4254	KITLG	ORPHA:895
HP:0000271	Abnormality of the face	4254	KITLG	OMIM:619947
HP:0000271	Abnormality of the face	55733	HHAT	ORPHA:1422
HP:0000271	Abnormality of the face	1776	DNASE1L3	ORPHA:36412
HP:0000271	Abnormality of the face	8676	STX11	OMIM:603552
HP:0000271	Abnormality of the face	162	AP1B1	OMIM:242150
HP:0000271	Abnormality of the face	7086	TKT	ORPHA:488618
HP:0000271	Abnormality of the face	7037	TFRC	OMIM:616740
HP:0000271	Abnormality of the face	686	BTD	OMIM:253260
HP:0000271	Abnormality of the face	686	BTD	ORPHA:79241
HP:0000271	Abnormality of the face	3978	LIG1	OMIM:619774
HP:0000271	Abnormality of the face	23328	SASH1	OMIM:618373
HP:0000271	Abnormality of the face	23064	SETX	OMIM:606002
HP:0000271	Abnormality of the face	5111	PCNA	OMIM:615919
HP:0000271	Abnormality of the face	2250	FGF5	OMIM:190330
HP:0000271	Abnormality of the face	149371	EXOC8	OMIM:619076
HP:0000271	Abnormality of the face	1174	AP1S1	OMIM:609313
HP:0000271	Abnormality of the face	51116	MRPS2	OMIM:617950
HP:0000271	Abnormality of the face	330	BIRC3	ORPHA:52417
HP:0000271	Abnormality of the face	10892	MALT1	ORPHA:52417
HP:0000271	Abnormality of the face	3492	IGH	ORPHA:52417
HP:0000271	Abnormality of the face	8915	BCL10	ORPHA:52417
HP:0000271	Abnormality of the face	220	ALDH1A3	OMIM:615113
HP:0000271	Abnormality of the face	5429	POLH	OMIM:278750
HP:0000271	Abnormality of the face	92002	CCNQ	ORPHA:140952
HP:0000271	Abnormality of the face	10535	RNASEH2A	ORPHA:51
HP:0000271	Abnormality of the face	84153	RNASEH2C	ORPHA:51
HP:0000271	Abnormality of the face	25939	SAMHD1	ORPHA:51
HP:0000271	Abnormality of the face	79621	RNASEH2B	ORPHA:51
HP:0000271	Abnormality of the face	103	ADAR	ORPHA:51
HP:0000271	Abnormality of the face	100147744	RNU7-1	ORPHA:51
HP:0000271	Abnormality of the face	134353	LSM11	ORPHA:51
HP:0000271	Abnormality of the face	64135	IFIH1	ORPHA:51
HP:0000271	Abnormality of the face	8363	H4C11	OMIM:619759
HP:0000271	Abnormality of the face	8364	H4C3	OMIM:619758
HP:0000271	Abnormality of the face	9969	MED13	OMIM:618009
HP:0000271	Abnormality of the face	81570	CLPB	OMIM:616271
HP:0000271	Abnormality of the face	5879	RAC1	OMIM:617751
HP:0000271	Abnormality of the face	24140	FTSJ1	OMIM:309549
HP:0000271	Abnormality of the face	3899	AFF3	OMIM:619297
HP:0000271	Abnormality of the face	8120	AP3B2	OMIM:617276
HP:0000271	Abnormality of the face	649	BMP1	OMIM:614856
HP:0000271	Abnormality of the face	9935	MAFB	ORPHA:233
HP:0000271	Abnormality of the face	1123	CHN1	ORPHA:233
HP:0000271	Abnormality of the face	1816	DRD5	OMIM:606798
HP:0000271	Abnormality of the face	2512	FTL	OMIM:606159
HP:0000271	Abnormality of the face	2512	FTL	ORPHA:157846
HP:0000271	Abnormality of the face	63982	ANO3	OMIM:615034
HP:0000271	Abnormality of the face	63982	ANO3	ORPHA:420485
HP:0000271	Abnormality of the face	55145	THAP1	ORPHA:98806
HP:0000271	Abnormality of the face	3208	HPCA	ORPHA:99657
HP:0000271	Abnormality of the face	3208	HPCA	OMIM:224500
HP:0000271	Abnormality of the face	51102	MECR	OMIM:617282
HP:0000271	Abnormality of the face	56910	STARD7	OMIM:607876
HP:0000271	Abnormality of the face	79734	KCTD17	OMIM:616398
HP:0000271	Abnormality of the face	23230	VPS13A	ORPHA:2388
HP:0000271	Abnormality of the face	16	AARS1	OMIM:616339
HP:0000271	Abnormality of the face	1861	TOR1A	OMIM:128100
HP:0000271	Abnormality of the face	147495	APCDD1	OMIM:605389
HP:0000271	Abnormality of the face	147495	APCDD1	ORPHA:55654
HP:0000271	Abnormality of the face	22845	DOLK	OMIM:610768
HP:0000271	Abnormality of the face	7286	TUFT1	OMIM:607655
HP:0000271	Abnormality of the face	374393	FAM111B	OMIM:615704
HP:0000271	Abnormality of the face	25959	KANK2	OMIM:616099
HP:0000271	Abnormality of the face	120766137	HRURF	OMIM:146550
HP:0000271	Abnormality of the face	79092	CARD14	OMIM:173200
HP:0000271	Abnormality of the face	285848	PNPLA1	ORPHA:79394
HP:0000271	Abnormality of the face	283987	HID1	OMIM:619983
HP:0000271	Abnormality of the face	55280	CWF19L1	OMIM:616127
HP:0000271	Abnormality of the face	55280	CWF19L1	ORPHA:453521
HP:0000271	Abnormality of the face	10771	ZMYND11	OMIM:616083
HP:0000271	Abnormality of the face	10749	KIF1C	ORPHA:397946
HP:0000271	Abnormality of the face	51728	POLR3K	OMIM:619310
HP:0000271	Abnormality of the face	387119	CEP85L	OMIM:618873
HP:0000271	Abnormality of the face	229	ALDOB	OMIM:229600
HP:0000271	Abnormality of the face	123041	SLC24A4	OMIM:615887
HP:0000271	Abnormality of the face	162514	TRPV3	ORPHA:659
HP:0000271	Abnormality of the face	64065	PERP	ORPHA:659
HP:0000271	Abnormality of the face	9622	KLK4	OMIM:204700
HP:0000271	Abnormality of the face	55131	RBM28	ORPHA:157954
HP:0000271	Abnormality of the face	55131	RBM28	OMIM:612079
HP:0000271	Abnormality of the face	166929	SGMS2	OMIM:126550
HP:0000271	Abnormality of the face	4322	MMP13	ORPHA:2501
HP:0000271	Abnormality of the face	80067	DCAF17	OMIM:241080
HP:0000271	Abnormality of the face	80067	DCAF17	ORPHA:3464
HP:0000271	Abnormality of the face	10667	FARS2	ORPHA:466722
HP:0000271	Abnormality of the face	84265	POLR3GL	OMIM:619234
HP:0000271	Abnormality of the face	5424	POLD1	OMIM:615381
HP:0000271	Abnormality of the face	55084	SOBP	OMIM:613671
HP:0000271	Abnormality of the face	10117	ENAM	OMIM:204650
HP:0000271	Abnormality of the face	64094	SMOC2	OMIM:125400
HP:0000271	Abnormality of the face	865	CBFB	OMIM:620099
HP:0000271	Abnormality of the face	79955	PDZD7	ORPHA:231178
HP:0000271	Abnormality of the face	4647	MYO7A	ORPHA:231178
HP:0000271	Abnormality of the face	4647	MYO7A	ORPHA:231169
HP:0000271	Abnormality of the face	25861	WHRN	ORPHA:231178
HP:0000271	Abnormality of the face	84059	ADGRV1	ORPHA:231178
HP:0000271	Abnormality of the face	26504	CNNM4	ORPHA:1873
HP:0000271	Abnormality of the face	224	ALDH3A2	ORPHA:816
HP:0000271	Abnormality of the face	9076	CLDN1	ORPHA:59303
HP:0000271	Abnormality of the face	79641	ROGDI	ORPHA:1946
HP:0000271	Abnormality of the face	10083	USH1C	ORPHA:231169
HP:0000271	Abnormality of the face	83715	ESPN	ORPHA:231169
HP:0000271	Abnormality of the face	10518	CIB2	ORPHA:231169
HP:0000271	Abnormality of the face	65217	PCDH15	ORPHA:231169
HP:0000271	Abnormality of the face	64581	CLEC7A	ORPHA:1334
HP:0000271	Abnormality of the face	112744	IL17F	ORPHA:1334
HP:0000271	Abnormality of the face	55703	POLR3B	OMIM:614381
HP:0000271	Abnormality of the face	8200	GDF5	ORPHA:63442
HP:0000271	Abnormality of the face	6821	SUOX	OMIM:272300
HP:0000271	Abnormality of the face	7067	THRA	OMIM:614450
HP:0000271	Abnormality of the face	6424	SFRP4	OMIM:265900
HP:0000271	Abnormality of the face	60676	PAPPA2	OMIM:619489
HP:0000271	Abnormality of the face	79977	GRHL2	OMIM:616029
HP:0000271	Abnormality of the face	1476	CSTB	ORPHA:248
HP:0000271	Abnormality of the face	26115	TANC2	OMIM:618906
HP:0000271	Abnormality of the face	90	ACVR1	OMIM:135100
HP:0000271	Abnormality of the face	4677	NARS1	OMIM:619092
HP:0000271	Abnormality of the face	286077	FAM83H	OMIM:130900
HP:0000271	Abnormality of the face	5130	PCYT1A	OMIM:608940
HP:0000271	Abnormality of the face	375056	MIA3	OMIM:619269
HP:0000271	Abnormality of the face	92949	ADAMTSL1	ORPHA:521445
HP:0000271	Abnormality of the face	6603	SMARCD2	OMIM:617475
HP:0000271	Abnormality of the face	81607	NECTIN4	OMIM:613573
HP:0000271	Abnormality of the face	55081	IFT57	OMIM:617927
HP:0000271	Abnormality of the face	79879	CCDC134	OMIM:619795
HP:0000271	Abnormality of the face	10491	CRTAP	OMIM:610682
HP:0000271	Abnormality of the face	5479	PPIB	OMIM:259440
HP:0000271	Abnormality of the face	6678	SPARC	OMIM:616507
HP:0000271	Abnormality of the face	387733	IFITM5	OMIM:610967
HP:0000271	Abnormality of the face	5176	SERPINF1	OMIM:613982
HP:0000271	Abnormality of the face	64175	P3H1	OMIM:610915
HP:0000271	Abnormality of the face	149461	CLDN19	OMIM:248190
HP:0000271	Abnormality of the face	3141	HLCS	ORPHA:79242
HP:0000271	Abnormality of the face	326	AIRE	OMIM:240300
HP:0000271	Abnormality of the face	4547	MTTP	ORPHA:14
HP:0000271	Abnormality of the face	255738	PCSK9	OMIM:603776
HP:0000271	Abnormality of the face	338	APOB	OMIM:144010
HP:0000271	Abnormality of the face	336	APOA2	OMIM:143890
HP:0000271	Abnormality of the face	2053	EPHX2	OMIM:143890
HP:0000271	Abnormality of the face	10842	PPP1R17	OMIM:143890
HP:0000271	Abnormality of the face	3949	LDLR	OMIM:143890
HP:0000271	Abnormality of the face	1593	CYP27A1	OMIM:213700
HP:0000271	Abnormality of the face	4023	LPL	OMIM:144250
HP:0000271	Abnormality of the face	7274	TTPA	OMIM:277460
HP:0000271	Abnormality of the face	64241	ABCG8	OMIM:210250
HP:0000271	Abnormality of the face	335	APOA1	ORPHA:425
HP:0000271	Abnormality of the face	158326	FREM1	ORPHA:2717
HP:0000271	Abnormality of the face	158326	FREM1	OMIM:248450
HP:0000271	Abnormality of the face	2706	GJB2	OMIM:148210
HP:0000271	Abnormality of the face	207	AKT1	OMIM:176920
HP:0000271	Abnormality of the face	6299	SALL1	ORPHA:857
HP:0000271	Abnormality of the face	51339	DACT1	ORPHA:857
HP:0000271	Abnormality of the face	652	BMP4	OMIM:607932
HP:0000271	Abnormality of the face	10558	SPTLC1	OMIM:162400
HP:0000271	Abnormality of the face	11340	EXOSC8	OMIM:616081
HP:0000271	Abnormality of the face	11340	EXOSC8	ORPHA:2254
HP:0000271	Abnormality of the face	23250	ATP11A	OMIM:619851
HP:0000271	Abnormality of the face	4724	NDUFS4	OMIM:252010
HP:0000271	Abnormality of the face	64856	VWA1	OMIM:619216
HP:0000271	Abnormality of the face	203190	LGI3	OMIM:620007
HP:0000271	Abnormality of the face	55005	RMND1	OMIM:614922
HP:0000271	Abnormality of the face	23287	AGTPBP1	ORPHA:2254
HP:0000271	Abnormality of the face	23287	AGTPBP1	OMIM:618276
HP:0000271	Abnormality of the face	7443	VRK1	ORPHA:2254
HP:0000271	Abnormality of the face	7443	VRK1	OMIM:607596
HP:0000271	Abnormality of the face	6606	SMN1	OMIM:271150
HP:0000271	Abnormality of the face	6606	SMN1	OMIM:253300
HP:0000271	Abnormality of the face	6606	SMN1	OMIM:253400
HP:0000271	Abnormality of the face	6606	SMN1	OMIM:253550
HP:0000271	Abnormality of the face	8087	FXR1	OMIM:618822
HP:0000271	Abnormality of the face	8087	FXR1	OMIM:618823
HP:0000271	Abnormality of the face	6607	SMN2	OMIM:253400
HP:0000271	Abnormality of the face	54936	ADPRS	OMIM:618170
HP:0000271	Abnormality of the face	7259	TSPYL1	OMIM:608800
HP:0000271	Abnormality of the face	58497	PRUNE1	ORPHA:544469
HP:0000271	Abnormality of the face	1959	EGR2	OMIM:145900
HP:0000271	Abnormality of the face	57716	PRX	OMIM:145900
HP:0000271	Abnormality of the face	274	BIN1	ORPHA:169186
HP:0000271	Abnormality of the face	291	SLC25A4	ORPHA:254892
HP:0000271	Abnormality of the face	11232	POLG2	ORPHA:254892
HP:0000271	Abnormality of the face	4359	MPZ	OMIM:618184
HP:0000271	Abnormality of the face	91574	MTRFR	ORPHA:254930
HP:0000271	Abnormality of the face	91574	MTRFR	OMIM:613559
HP:0000271	Abnormality of the face	112	ADCY6	OMIM:616287
HP:0000271	Abnormality of the face	7415	VCP	ORPHA:329478
HP:0000271	Abnormality of the face	2733	GLE1	OMIM:611890
HP:0000271	Abnormality of the face	1410	CRYAB	ORPHA:399058
HP:0000271	Abnormality of the face	84665	MYPN	ORPHA:171439
HP:0000271	Abnormality of the face	390594	KBTBD13	ORPHA:171439
HP:0000271	Abnormality of the face	10324	KLHL41	ORPHA:171439
HP:0000271	Abnormality of the face	10324	KLHL41	ORPHA:171436
HP:0000271	Abnormality of the face	10324	KLHL41	ORPHA:171433
HP:0000271	Abnormality of the face	10324	KLHL41	ORPHA:171430
HP:0000271	Abnormality of the face	19	ABCA1	OMIM:205400
HP:0000271	Abnormality of the face	19	ABCA1	ORPHA:31150
HP:0000271	Abnormality of the face	113278	SLC52A3	OMIM:211500
HP:0000271	Abnormality of the face	9997	SCO2	ORPHA:521411
HP:0000271	Abnormality of the face	56203	LMOD3	ORPHA:171436
HP:0000271	Abnormality of the face	56203	LMOD3	ORPHA:171430
HP:0000271	Abnormality of the face	8803	SUCLA2	OMIM:612073
HP:0000271	Abnormality of the face	6472	SHMT2	OMIM:619121
HP:0000271	Abnormality of the face	131377	KLHL40	ORPHA:171430
HP:0000271	Abnormality of the face	10730	YME1L1	OMIM:617302
HP:0000271	Abnormality of the face	347733	TUBB2B	OMIM:610031
HP:0000271	Abnormality of the face	401	PHOX2A	OMIM:602078
HP:0000271	Abnormality of the face	10274	STAG1	ORPHA:502434
HP:0000271	Abnormality of the face	7480	WNT10B	OMIM:617073
HP:0000271	Abnormality of the face	64388	GREM2	OMIM:617275
HP:0000271	Abnormality of the face	545	ATR	OMIM:210600
HP:0000271	Abnormality of the face	22995	CEP152	OMIM:613823
HP:0000271	Abnormality of the face	5294	PIK3CG	OMIM:619802
HP:0000271	Abnormality of the face	10134	BCAP31	OMIM:300475
HP:0000271	Abnormality of the face	10134	BCAP31	ORPHA:369939
HP:0000271	Abnormality of the face	126326	GIPC3	OMIM:601869
HP:0000271	Abnormality of the face	9254	CACNA2D2	OMIM:618501
HP:0000271	Abnormality of the face	24137	KIF4A	OMIM:300923
HP:0000271	Abnormality of the face	191	AHCY	OMIM:613752
HP:0000271	Abnormality of the face	191	AHCY	ORPHA:88618
HP:0000271	Abnormality of the face	3748	KCNC3	ORPHA:98768
HP:0000271	Abnormality of the face	3718	JAK3	ORPHA:35078
HP:0000271	Abnormality of the face	51567	TDP2	ORPHA:404493
HP:0000271	Abnormality of the face	54916	TMEM260	OMIM:617478
HP:0000271	Abnormality of the face	29929	ALG6	ORPHA:79320
HP:0000271	Abnormality of the face	79053	ALG8	ORPHA:79325
HP:0000271	Abnormality of the face	4126	MANBA	ORPHA:118
HP:0000271	Abnormality of the face	4126	MANBA	OMIM:248510
HP:0000271	Abnormality of the face	123606	NIPA1	ORPHA:261183
HP:0000271	Abnormality of the face	7283	TUBG1	ORPHA:261183
HP:0000271	Abnormality of the face	81614	NIPA2	ORPHA:261183
HP:0000271	Abnormality of the face	51621	KLF13	OMIM:612001
HP:0000271	Abnormality of the face	9837	GINS1	OMIM:617827
HP:0000271	Abnormality of the face	5994	RFXAP	ORPHA:572
HP:0000271	Abnormality of the face	4261	CIITA	ORPHA:572
HP:0000271	Abnormality of the face	5993	RFX5	ORPHA:572
HP:0000271	Abnormality of the face	8625	RFXANK	ORPHA:572
HP:0000271	Abnormality of the face	7874	USP7	OMIM:616863
HP:0000271	Abnormality of the face	7874	USP7	ORPHA:500055
HP:0000271	Abnormality of the face	3028	HSD17B10	ORPHA:391428
HP:0000271	Abnormality of the face	2464	FRA16E	OMIM:136570
HP:0000271	Abnormality of the face	5162	PDHB	ORPHA:255138
HP:0000271	Abnormality of the face	22796	COG2	ORPHA:435934
HP:0000271	Abnormality of the face	116461	TSEN15	ORPHA:2524
HP:0000271	Abnormality of the face	79042	TSEN34	ORPHA:2524
HP:0000271	Abnormality of the face	80746	TSEN2	ORPHA:2524
HP:0000271	Abnormality of the face	51091	SEPSECS	ORPHA:2524
HP:0000271	Abnormality of the face	407975	MIR17HG	ORPHA:391646
HP:0000271	Abnormality of the face	10273	STUB1	ORPHA:412057
HP:0000271	Abnormality of the face	131118	DNAJC19	ORPHA:66634
HP:0000271	Abnormality of the face	23309	SIN3B	ORPHA:500166
HP:0000271	Abnormality of the face	57194	ATP10A	ORPHA:411515
HP:0000271	Abnormality of the face	55777	MBD5	OMIM:156200
HP:0000271	Abnormality of the face	10664	CTCF	ORPHA:363611
HP:0000271	Abnormality of the face	4123	MAN2C1	OMIM:619775
HP:0000271	Abnormality of the face	259232	NALCN	OMIM:616266
HP:0000271	Abnormality of the face	64327	LMBR1	ORPHA:2378
HP:0000271	Abnormality of the face	79005	SCNM1	OMIM:620107
HP:0000271	Abnormality of the face	1063	CENPF	OMIM:243605
HP:0000271	Abnormality of the face	415	ARSL	ORPHA:79345
HP:0000271	Abnormality of the face	71	ACTG1	ORPHA:2995
HP:0000271	Abnormality of the face	60	ACTB	ORPHA:2995
HP:0000271	Abnormality of the face	3756	KCNH1	OMIM:611816
HP:0000271	Abnormality of the face	6469	SHH	OMIM:142945
HP:0000271	Abnormality of the face	257	ALX3	OMIM:136760
HP:0000271	Abnormality of the face	284252	KCTD1	OMIM:181270
HP:0000271	Abnormality of the face	113189	CHST14	OMIM:601776
HP:0000271	Abnormality of the face	2077	ERF	OMIM:617180
HP:0000271	Abnormality of the face	80816	ASXL3	OMIM:615485
HP:0000271	Abnormality of the face	7403	KDM6A	OMIM:300867
HP:0000271	Abnormality of the face	7403	KDM6A	ORPHA:2322
HP:0000271	Abnormality of the face	8085	KMT2D	ORPHA:2322
HP:0000271	Abnormality of the face	7291	TWIST1	OMIM:617746
HP:0000271	Abnormality of the face	55623	THUMPD1	OMIM:619989
HP:0000271	Abnormality of the face	9653	HS2ST1	OMIM:619194
HP:0000271	Abnormality of the face	50801	KCNK4	OMIM:618381
HP:0000271	Abnormality of the face	253738	EBF3	OMIM:617330
HP:0000271	Abnormality of the face	8367	H4C5	OMIM:619950
HP:0000271	Abnormality of the face	8294	H4C9	OMIM:619951
HP:0000271	Abnormality of the face	94005	PIGS	OMIM:618143
HP:0000271	Abnormality of the face	3572	IL6ST	OMIM:619750
HP:0000271	Abnormality of the face	4683	NBN	OMIM:251260
HP:0000271	Abnormality of the face	4683	NBN	ORPHA:647
HP:0000271	Abnormality of the face	51126	NAA20	OMIM:619717
HP:0000271	Abnormality of the face	6885	MAP3K7	OMIM:617137
HP:0000271	Abnormality of the face	26053	AUTS2	OMIM:615834
HP:0000271	Abnormality of the face	673	BRAF	OMIM:115150
HP:0000271	Abnormality of the face	55627	SMPD4	OMIM:618622
HP:0000271	Abnormality of the face	8818	DPM2	ORPHA:329178
HP:0000271	Abnormality of the face	9968	MED12	OMIM:309520
HP:0000271	Abnormality of the face	2131	EXT1	ORPHA:502
HP:0000271	Abnormality of the face	7227	TRPS1	ORPHA:502
HP:0000271	Abnormality of the face	7227	TRPS1	OMIM:190350
HP:0000271	Abnormality of the face	55209	SETD5	ORPHA:404440
HP:0000271	Abnormality of the face	7707	ZNF148	OMIM:617260
HP:0000271	Abnormality of the face	4893	NRAS	OMIM:137550
HP:0000271	Abnormality of the face	3265	HRAS	OMIM:137550
HP:0000271	Abnormality of the face	1806	DPYD	ORPHA:1675
HP:0000271	Abnormality of the face	526	ATP6V1B2	OMIM:616455
HP:0000271	Abnormality of the face	5500	PPP1CB	OMIM:617506
HP:0000271	Abnormality of the face	5500	PPP1CB	ORPHA:2701
HP:0000271	Abnormality of the face	64093	SMOC1	OMIM:206920
HP:0000271	Abnormality of the face	9915	ARNT2	OMIM:615926
HP:0000271	Abnormality of the face	6925	TCF4	OMIM:610954
HP:0000271	Abnormality of the face	4952	OCRL	ORPHA:534
HP:0000271	Abnormality of the face	57231	SNX14	ORPHA:397709
HP:0000271	Abnormality of the face	55343	SLC35C1	ORPHA:99843
HP:0000271	Abnormality of the face	4626	MYH8	OMIM:158300
HP:0000271	Abnormality of the face	4256	MGP	OMIM:245150
HP:0000271	Abnormality of the face	8260	NAA10	OMIM:300855
HP:0000271	Abnormality of the face	8481	OFD1	OMIM:300804
HP:0000271	Abnormality of the face	3339	HSPG2	OMIM:255800
HP:0000271	Abnormality of the face	22856	CHSY1	OMIM:605282
HP:0000271	Abnormality of the face	64324	NSD1	ORPHA:3447
HP:0000271	Abnormality of the face	8726	EED	ORPHA:3447
HP:0000271	Abnormality of the face	23512	SUZ12	ORPHA:3447
HP:0000271	Abnormality of the face	2146	EZH2	ORPHA:3447
HP:0000271	Abnormality of the face	7546	ZIC2	OMIM:609637
HP:0000271	Abnormality of the face	6792	CDKL5	ORPHA:505652
HP:0000271	Abnormality of the face	1387	CREBBP	OMIM:618332
HP:0000271	Abnormality of the face	6261	RYR1	OMIM:619542
HP:0000271	Abnormality of the face	2033	EP300	OMIM:618333
HP:0000271	Abnormality of the face	3832	KIF11	OMIM:152950
HP:0000271	Abnormality of the face	5087	PBX1	OMIM:617641
HP:0000271	Abnormality of the face	5567	PRKACB	OMIM:619143
HP:0000271	Abnormality of the face	26173	INTS1	OMIM:618571
HP:0000271	Abnormality of the face	867	CBL	OMIM:613563
HP:0000271	Abnormality of the face	8036	SHOC2	ORPHA:2701
HP:0000271	Abnormality of the face	51025	PAM16	OMIM:613320
HP:0000271	Abnormality of the face	4858	NOVA2	OMIM:618859
HP:0000271	Abnormality of the face	7020	TFAP2A	ORPHA:1297
HP:0000271	Abnormality of the face	7319	UBE2A	ORPHA:163956
HP:0000271	Abnormality of the face	9343	EFTUD2	OMIM:610536
HP:0000271	Abnormality of the face	2200	FBN1	OMIM:102370
HP:0000271	Abnormality of the face	6888	TALDO1	OMIM:606003
HP:0000271	Abnormality of the face	5813	PURA	ORPHA:314655
HP:0000271	Abnormality of the face	9949	AMMECR1	OMIM:300990
HP:0000271	Abnormality of the face	90161	HS6ST2	OMIM:301025
HP:0000271	Abnormality of the face	55217	TMLHE	OMIM:300872
HP:0000271	Abnormality of the face	57551	TAOK1	OMIM:619575
HP:0000271	Abnormality of the face	55898	UNC45A	OMIM:619377
HP:0000271	Abnormality of the face	54941	RNF125	OMIM:616260
HP:0000271	Abnormality of the face	2332	FMR1	ORPHA:908
HP:0000271	Abnormality of the face	2332	FMR1	OMIM:300624
HP:0000271	Abnormality of the face	114034	TOE1	OMIM:614969
HP:0000271	Abnormality of the face	5457	POU4F1	ORPHA:314647
HP:0000271	Abnormality of the face	23261	CAMTA1	ORPHA:314647
HP:0000271	Abnormality of the face	23261	CAMTA1	OMIM:614756
HP:0000271	Abnormality of the face	8405	SPOP	OMIM:618829
HP:0000271	Abnormality of the face	285362	SUMF1	OMIM:272200
HP:0000271	Abnormality of the face	2316	FLNA	OMIM:300321
HP:0000271	Abnormality of the face	221496	LEMD2	OMIM:619322
HP:0000271	Abnormality of the face	4212	MEIS2	OMIM:600987
HP:0000271	Abnormality of the face	92335	STRADA	OMIM:611087
HP:0000271	Abnormality of the face	5144	PDE4D	ORPHA:439822
HP:0000271	Abnormality of the face	4010	LMX1B	ORPHA:495818
HP:0000271	Abnormality of the face	6812	STXBP1	ORPHA:495818
HP:0000271	Abnormality of the face	65082	VPS33A	OMIM:617303
HP:0000271	Abnormality of the face	4953	ODC1	ORPHA:544488
HP:0000271	Abnormality of the face	2783	GNB2	OMIM:619503
HP:0000271	Abnormality of the face	196528	ARID2	OMIM:617808
HP:0000271	Abnormality of the face	5728	PTEN	ORPHA:79076
HP:0000271	Abnormality of the face	657	BMPR1A	ORPHA:79076
HP:0000271	Abnormality of the face	6714	SRC	OMIM:616937
HP:0000271	Abnormality of the face	10584	COLEC10	OMIM:248340
HP:0000271	Abnormality of the face	8092	ALX1	ORPHA:306542
HP:0000271	Abnormality of the face	8092	ALX1	OMIM:613456
HP:0000271	Abnormality of the face	54101	RIPK4	OMIM:263650
HP:0000271	Abnormality of the face	2121	EVC	ORPHA:952
HP:0000271	Abnormality of the face	132884	EVC2	ORPHA:952
HP:0000271	Abnormality of the face	2137	EXTL3	ORPHA:508533
HP:0000271	Abnormality of the face	1718	DHCR24	OMIM:602398
HP:0000271	Abnormality of the face	1718	DHCR24	ORPHA:35107
HP:0000271	Abnormality of the face	1497	CTNS	OMIM:219800
HP:0000271	Abnormality of the face	11253	MAN1B1	ORPHA:397941
HP:0000271	Abnormality of the face	1139	CHRNA7	ORPHA:199318
HP:0000271	Abnormality of the face	83932	SPRTN	OMIM:616200
HP:0000271	Abnormality of the face	3845	KRAS	ORPHA:2612
HP:0000271	Abnormality of the face	3845	KRAS	ORPHA:1340
HP:0000271	Abnormality of the face	3845	KRAS	OMIM:609942
HP:0000271	Abnormality of the face	1947	EFNB1	ORPHA:1520
HP:0000271	Abnormality of the face	1947	EFNB1	OMIM:304110
HP:0000271	Abnormality of the face	9820	CUL7	ORPHA:2616
HP:0000271	Abnormality of the face	9820	CUL7	OMIM:273750
HP:0000271	Abnormality of the face	23363	OBSL1	ORPHA:2616
HP:0000271	Abnormality of the face	23363	OBSL1	OMIM:612921
HP:0000271	Abnormality of the face	83987	CCDC8	ORPHA:2616
HP:0000271	Abnormality of the face	83987	CCDC8	OMIM:614205
HP:0000271	Abnormality of the face	7360	UGP2	OMIM:618744
HP:0000271	Abnormality of the face	79848	CSPP1	ORPHA:397715
HP:0000271	Abnormality of the face	9786	KIAA0586	ORPHA:397715
HP:0000271	Abnormality of the face	267010	RNU12	OMIM:603116
HP:0000271	Abnormality of the face	9578	CDC42BPB	OMIM:619841
HP:0000271	Abnormality of the face	2737	GLI3	ORPHA:380
HP:0000271	Abnormality of the face	2737	GLI3	OMIM:175700
HP:0000271	Abnormality of the face	3021	H3-3B	OMIM:619721
HP:0000271	Abnormality of the face	1855	DVL1	OMIM:616331
HP:0000271	Abnormality of the face	1855	DVL1	OMIM:180700
HP:0000271	Abnormality of the face	1855	DVL1	ORPHA:3107
HP:0000271	Abnormality of the face	8942	KYNU	OMIM:617661
HP:0000271	Abnormality of the face	55790	CSGALNACT1	OMIM:618870
HP:0000271	Abnormality of the face	5830	PEX5	OMIM:202370
HP:0000271	Abnormality of the face	2201	FBN2	OMIM:121050
HP:0000271	Abnormality of the face	4286	MITF	OMIM:617306
HP:0000271	Abnormality of the face	120227	CYP2R1	OMIM:600081
HP:0000271	Abnormality of the face	120227	CYP2R1	ORPHA:289157
HP:0000271	Abnormality of the face	57539	WDR35	ORPHA:1515
HP:0000271	Abnormality of the face	57539	WDR35	OMIM:613610
HP:0000271	Abnormality of the face	57539	WDR35	ORPHA:93271
HP:0000271	Abnormality of the face	112752	IFT43	ORPHA:1515
HP:0000271	Abnormality of the face	112752	IFT43	OMIM:614099
HP:0000271	Abnormality of the face	51098	IFT52	ORPHA:1515
HP:0000271	Abnormality of the face	55764	IFT122	ORPHA:1515
HP:0000271	Abnormality of the face	55764	IFT122	OMIM:218330
HP:0000271	Abnormality of the face	57728	WDR19	ORPHA:1515
HP:0000271	Abnormality of the face	57728	WDR19	OMIM:614378
HP:0000271	Abnormality of the face	50964	SOST	ORPHA:1513
HP:0000271	Abnormality of the face	50964	SOST	OMIM:269500
HP:0000271	Abnormality of the face	6660	SOX5	ORPHA:313892
HP:0000271	Abnormality of the face	6660	SOX5	OMIM:616803
HP:0000271	Abnormality of the face	1896	EDA	OMIM:305100
HP:0000271	Abnormality of the face	1896	EDA	ORPHA:181
HP:0000271	Abnormality of the face	54	ACP5	OMIM:607944
HP:0000271	Abnormality of the face	1513	CTSK	OMIM:265800
HP:0000271	Abnormality of the face	1513	CTSK	ORPHA:763
HP:0000271	Abnormality of the face	5191	PEX7	OMIM:215100
HP:0000271	Abnormality of the face	2035	EPB41	ORPHA:288
HP:0000271	Abnormality of the face	2995	GYPC	ORPHA:288
HP:0000271	Abnormality of the face	6710	SPTB	ORPHA:288
HP:0000271	Abnormality of the face	6708	SPTA1	ORPHA:288
HP:0000271	Abnormality of the face	10484	SEC23A	OMIM:607812
HP:0000271	Abnormality of the face	10484	SEC23A	ORPHA:50814
HP:0000271	Abnormality of the face	1105	CHD1	OMIM:617682
HP:0000271	Abnormality of the face	1105	CHD1	ORPHA:529965
HP:0000271	Abnormality of the face	10815	CPLX1	ORPHA:280
HP:0000271	Abnormality of the face	54872	PIGG	ORPHA:280
HP:0000271	Abnormality of the face	7469	NELFA	ORPHA:280
HP:0000271	Abnormality of the face	1487	CTBP1	ORPHA:280
HP:0000271	Abnormality of the face	1487	CTBP1	OMIM:617915
HP:0000271	Abnormality of the face	3954	LETM1	ORPHA:280
HP:0000271	Abnormality of the face	7468	NSD2	ORPHA:280
HP:0000271	Abnormality of the face	1656	DDX6	OMIM:618653
HP:0000271	Abnormality of the face	1594	CYP27B1	OMIM:264700
HP:0000271	Abnormality of the face	1594	CYP27B1	ORPHA:289157
HP:0000271	Abnormality of the face	1301	COL11A1	OMIM:228520
HP:0000271	Abnormality of the face	1301	COL11A1	ORPHA:440354
HP:0000271	Abnormality of the face	1301	COL11A1	ORPHA:560
HP:0000271	Abnormality of the face	80776	B9D2	OMIM:614175
HP:0000271	Abnormality of the face	6602	SMARCD1	OMIM:618779
HP:0000271	Abnormality of the face	26038	CHD5	OMIM:619873
HP:0000271	Abnormality of the face	5034	P4HB	OMIM:112240
HP:0000271	Abnormality of the face	5034	P4HB	ORPHA:2050
HP:0000271	Abnormality of the face	3043	HBB	ORPHA:231214
HP:0000271	Abnormality of the face	3043	HBB	ORPHA:231226
HP:0000271	Abnormality of the face	6905	TBCE	OMIM:241410
HP:0000271	Abnormality of the face	142680	SLC34A3	OMIM:241530
HP:0000271	Abnormality of the face	57167	SALL4	OMIM:147750
HP:0000271	Abnormality of the face	5048	PAFAH1B1	ORPHA:217385
HP:0000271	Abnormality of the face	7531	YWHAE	ORPHA:217385
HP:0000271	Abnormality of the face	3481	IGF2	OMIM:616489
HP:0000271	Abnormality of the face	3481	IGF2	OMIM:180860
HP:0000271	Abnormality of the face	3481	IGF2	ORPHA:397590
HP:0000271	Abnormality of the face	92609	TIMM50	OMIM:617698
HP:0000271	Abnormality of the face	3098	HK1	OMIM:618547
HP:0000271	Abnormality of the face	5590	PRKCZ	ORPHA:1606
HP:0000271	Abnormality of the face	2563	GABRD	ORPHA:1606
HP:0000271	Abnormality of the face	23013	SPEN	ORPHA:1606
HP:0000271	Abnormality of the face	23013	SPEN	OMIM:619312
HP:0000271	Abnormality of the face	8510	MMP23B	ORPHA:1606
HP:0000271	Abnormality of the face	7798	LUZP1	ORPHA:1606
HP:0000271	Abnormality of the face	6497	SKI	ORPHA:1606
HP:0000271	Abnormality of the face	6497	SKI	ORPHA:2462
HP:0000271	Abnormality of the face	6497	SKI	OMIM:182212
HP:0000271	Abnormality of the face	10630	PDPN	ORPHA:1606
HP:0000271	Abnormality of the face	10277	UBE4B	ORPHA:1606
HP:0000271	Abnormality of the face	8514	KCNAB2	ORPHA:1606
HP:0000271	Abnormality of the face	473	RERE	ORPHA:1606
HP:0000271	Abnormality of the face	473	RERE	ORPHA:494344
HP:0000271	Abnormality of the face	473	RERE	OMIM:616975
HP:0000271	Abnormality of the face	63976	PRDM16	ORPHA:1606
HP:0000271	Abnormality of the face	54897	CASZ1	ORPHA:1606
HP:0000271	Abnormality of the face	5727	PTCH1	OMIM:610828
HP:0000271	Abnormality of the face	5727	PTCH1	ORPHA:377
HP:0000271	Abnormality of the face	5727	PTCH1	OMIM:109400
HP:0000271	Abnormality of the face	79796	ALG9	ORPHA:79328
HP:0000271	Abnormality of the face	79796	ALG9	OMIM:608776
HP:0000271	Abnormality of the face	8314	BAP1	OMIM:619762
HP:0000271	Abnormality of the face	83479	DDX59	ORPHA:2919
HP:0000271	Abnormality of the face	83479	DDX59	OMIM:174300
HP:0000271	Abnormality of the face	6942	TCF20	OMIM:618430
HP:0000271	Abnormality of the face	2271	FH	OMIM:606812
HP:0000271	Abnormality of the face	4488	MSX2	OMIM:604757
HP:0000271	Abnormality of the face	8643	PTCH2	ORPHA:377
HP:0000271	Abnormality of the face	51684	SUFU	ORPHA:377
HP:0000271	Abnormality of the face	51684	SUFU	OMIM:617757
HP:0000271	Abnormality of the face	23556	PIGN	OMIM:614080
HP:0000271	Abnormality of the face	23007	PLCH1	OMIM:619895
HP:0000271	Abnormality of the face	249	ALPL	OMIM:241510
HP:0000271	Abnormality of the face	79989	IFT56	OMIM:619534
HP:0000271	Abnormality of the face	84168	ANTXR1	OMIM:230740
HP:0000271	Abnormality of the face	84168	ANTXR1	ORPHA:2067
HP:0000271	Abnormality of the face	2260	FGFR1	OMIM:166250
HP:0000271	Abnormality of the face	7994	KAT6A	OMIM:616268
HP:0000271	Abnormality of the face	2720	GLB1	OMIM:230500
HP:0000271	Abnormality of the face	2720	GLB1	ORPHA:79255
HP:0000271	Abnormality of the face	3930	LBR	OMIM:169400
HP:0000271	Abnormality of the face	3930	LBR	OMIM:618019
HP:0000271	Abnormality of the face	1107	CHD3	OMIM:618205
HP:0000271	Abnormality of the face	2317	FLNB	OMIM:272460
HP:0000271	Abnormality of the face	2317	FLNB	OMIM:108721
HP:0000271	Abnormality of the face	2317	FLNB	OMIM:108720
HP:0000271	Abnormality of the face	2317	FLNB	OMIM:150250
HP:0000271	Abnormality of the face	1749	DLX5	OMIM:220600
HP:0000271	Abnormality of the face	27077	B9D1	OMIM:617120
HP:0000271	Abnormality of the face	9742	IFT140	OMIM:266920
HP:0000271	Abnormality of the face	60529	ALX4	ORPHA:228390
HP:0000271	Abnormality of the face	60529	ALX4	ORPHA:35093
HP:0000271	Abnormality of the face	1523	CUX1	OMIM:618330
HP:0000271	Abnormality of the face	5587	PRKD1	OMIM:617364
HP:0000271	Abnormality of the face	5426	POLE	OMIM:618336
HP:0000271	Abnormality of the face	5426	POLE	ORPHA:85173
HP:0000271	Abnormality of the face	4921	DDR2	OMIM:271665
HP:0000271	Abnormality of the face	8925	HERC1	OMIM:617011
HP:0000271	Abnormality of the face	54892	NCAPG2	OMIM:618460
HP:0000271	Abnormality of the face	23314	SATB2	ORPHA:251028
HP:0000271	Abnormality of the face	23314	SATB2	OMIM:612313
HP:0000271	Abnormality of the face	51259	TMEM216	OMIM:608091
HP:0000271	Abnormality of the face	51259	TMEM216	ORPHA:2754
HP:0000271	Abnormality of the face	1277	COL1A1	OMIM:259420
HP:0000271	Abnormality of the face	1278	COL1A2	OMIM:259420
HP:0000271	Abnormality of the face	5515	PPP2CA	OMIM:618354
HP:0000271	Abnormality of the face	9871	SEC24D	OMIM:616294
HP:0000271	Abnormality of the face	9871	SEC24D	ORPHA:2050
HP:0000271	Abnormality of the face	29998	BICRA	OMIM:619325
HP:0000271	Abnormality of the face	6651	SON	OMIM:617140
HP:0000271	Abnormality of the face	6651	SON	ORPHA:500150
HP:0000271	Abnormality of the face	2710	GK	OMIM:307030
HP:0000271	Abnormality of the face	9126	SMC3	OMIM:610759
HP:0000271	Abnormality of the face	4784	NFIX	OMIM:602535
HP:0000271	Abnormality of the face	4784	NFIX	ORPHA:420179
HP:0000271	Abnormality of the face	3039	HBA1	ORPHA:98791
HP:0000271	Abnormality of the face	3040	HBA2	ORPHA:98791
HP:0000271	Abnormality of the face	4998	ORC1	OMIM:224690
HP:0000271	Abnormality of the face	4125	MAN2B1	OMIM:248500
HP:0000271	Abnormality of the face	54496	PRMT7	OMIM:617157
HP:0000271	Abnormality of the face	10082	GPC6	OMIM:258315
HP:0000271	Abnormality of the face	10082	GPC6	ORPHA:93329
HP:0000271	Abnormality of the face	5831	PYCR1	OMIM:612940
HP:0000271	Abnormality of the face	116442	RAB39B	OMIM:311510
HP:0000271	Abnormality of the face	116442	RAB39B	ORPHA:2379
HP:0000271	Abnormality of the face	7703	PCGF2	OMIM:618371
HP:0000271	Abnormality of the face	23258	DENND5A	OMIM:617281
HP:0000271	Abnormality of the face	9496	TBX4	ORPHA:261279
HP:0000271	Abnormality of the face	8091	HMGA2	ORPHA:94063
HP:0000271	Abnormality of the face	8091	HMGA2	ORPHA:397590
HP:0000271	Abnormality of the face	23592	LEMD3	ORPHA:94063
HP:0000271	Abnormality of the face	10013	HDAC6	OMIM:300863
HP:0000271	Abnormality of the face	10013	HDAC6	ORPHA:163966
HP:0000271	Abnormality of the face	633	BGN	OMIM:300989
HP:0000271	Abnormality of the face	164	AP1G1	OMIM:619467
HP:0000271	Abnormality of the face	3977	LIFR	OMIM:601559
HP:0000271	Abnormality of the face	26040	SETBP1	OMIM:616078
HP:0000271	Abnormality of the face	26040	SETBP1	ORPHA:798
HP:0000271	Abnormality of the face	2475	MTOR	ORPHA:457485
HP:0000271	Abnormality of the face	2475	MTOR	OMIM:616638
HP:0000271	Abnormality of the face	23384	SPECC1L	OMIM:145420
HP:0000271	Abnormality of the face	4990	SIX6	OMIM:206900
HP:0000271	Abnormality of the face	6657	SOX2	OMIM:206900
HP:0000271	Abnormality of the face	9321	TRIP11	ORPHA:166272
HP:0000271	Abnormality of the face	9321	TRIP11	ORPHA:93299
HP:0000271	Abnormality of the face	9791	PTDSS1	OMIM:151050
HP:0000271	Abnormality of the face	4882	NPR2	OMIM:602875
HP:0000271	Abnormality of the face	4882	NPR2	ORPHA:40
HP:0000271	Abnormality of the face	9851	KIAA0753	OMIM:619476
HP:0000271	Abnormality of the face	9851	KIAA0753	OMIM:619479
HP:0000271	Abnormality of the face	9851	KIAA0753	ORPHA:2754
HP:0000271	Abnormality of the face	57498	KIDINS220	OMIM:617296
HP:0000271	Abnormality of the face	10526	IPO8	OMIM:619472
HP:0000271	Abnormality of the face	10283	CWC27	OMIM:250410
HP:0000271	Abnormality of the face	10283	CWC27	ORPHA:166035
HP:0000271	Abnormality of the face	4796	TONSL	OMIM:271510
HP:0000271	Abnormality of the face	4796	TONSL	ORPHA:93357
HP:0000271	Abnormality of the face	57465	TBC1D24	ORPHA:79500
HP:0000271	Abnormality of the face	2887	GRB10	ORPHA:96182
HP:0000271	Abnormality of the face	84172	POLR1B	ORPHA:861
HP:0000271	Abnormality of the face	9533	POLR1C	ORPHA:861
HP:0000271	Abnormality of the face	51082	POLR1D	ORPHA:861
HP:0000271	Abnormality of the face	6949	TCOF1	ORPHA:861
HP:0000271	Abnormality of the face	23405	DICER1	OMIM:618272
HP:0000271	Abnormality of the face	55210	ATAD3A	OMIM:617183
HP:0000271	Abnormality of the face	1298	COL9A2	OMIM:600204
HP:0000271	Abnormality of the face	3636	INPPL1	OMIM:258480
HP:0000271	Abnormality of the face	3636	INPPL1	ORPHA:2746
HP:0000271	Abnormality of the face	4841	NONO	OMIM:300967
HP:0000271	Abnormality of the face	4841	NONO	ORPHA:466791
HP:0000271	Abnormality of the face	8567	MADD	OMIM:619005
HP:0000271	Abnormality of the face	5058	PAK1	OMIM:618158
HP:0000271	Abnormality of the face	10651	MTX2	OMIM:619127
HP:0000271	Abnormality of the face	29123	ANKRD11	ORPHA:261250
HP:0000271	Abnormality of the face	25839	COG4	ORPHA:85172
HP:0000271	Abnormality of the face	1028	CDKN1C	ORPHA:85173
HP:0000271	Abnormality of the face	1028	CDKN1C	ORPHA:397590
HP:0000271	Abnormality of the face	2799	GNS	OMIM:252940
HP:0000271	Abnormality of the face	55599	RNPC3	OMIM:618160
HP:0000271	Abnormality of the face	23387	SIK3	OMIM:618162
HP:0000271	Abnormality of the face	6904	TBCD	OMIM:617193
HP:0000271	Abnormality of the face	5528	PPP2R5D	ORPHA:457279
HP:0000271	Abnormality of the face	1984	EIF5A	OMIM:619376
HP:0000271	Abnormality of the face	89970	RSPRY1	ORPHA:457395
HP:0000271	Abnormality of the face	89970	RSPRY1	OMIM:616723
HP:0000271	Abnormality of the face	9487	PIGL	OMIM:280000
HP:0000271	Abnormality of the face	5557	PRIM1	OMIM:620005
HP:0000271	Abnormality of the face	3295	HSD17B4	OMIM:261515
HP:0000271	Abnormality of the face	83737	ITCH	ORPHA:228426
HP:0000271	Abnormality of the face	83737	ITCH	OMIM:613385
HP:0000271	Abnormality of the face	7474	WNT5A	OMIM:180700
HP:0000271	Abnormality of the face	7474	WNT5A	ORPHA:3107
HP:0000271	Abnormality of the face	9897	WASHC5	ORPHA:7
HP:0000271	Abnormality of the face	28952	CCDC22	ORPHA:7
HP:0000271	Abnormality of the face	6913	TBX15	OMIM:260660
HP:0000271	Abnormality of the face	6913	TBX15	ORPHA:93333
HP:0000271	Abnormality of the face	55181	SMG8	OMIM:619268
HP:0000271	Abnormality of the face	27161	AGO2	OMIM:619149
HP:0000271	Abnormality of the face	284361	EMC10	OMIM:619264
HP:0000271	Abnormality of the face	7421	VDR	ORPHA:93160
HP:0000271	Abnormality of the face	7421	VDR	OMIM:277440
HP:0000271	Abnormality of the face	55503	TRPV6	OMIM:618188
HP:0000271	Abnormality of the face	775	CACNA1C	OMIM:620029
HP:0000271	Abnormality of the face	5447	POR	ORPHA:95699
HP:0000271	Abnormality of the face	5447	POR	OMIM:201750
HP:0000271	Abnormality of the face	5447	POR	OMIM:207410
HP:0000271	Abnormality of the face	9401	RECQL4	OMIM:268400
HP:0000271	Abnormality of the face	9401	RECQL4	ORPHA:1225
HP:0000271	Abnormality of the face	4983	OPHN1	OMIM:300486
HP:0000271	Abnormality of the face	4774	NFIA	ORPHA:401986
HP:0000271	Abnormality of the face	55112	DYNC2I1	ORPHA:93271
HP:0000271	Abnormality of the face	57560	IFT80	ORPHA:93271
HP:0000271	Abnormality of the face	79659	DYNC2H1	ORPHA:93271
HP:0000271	Abnormality of the face	89891	DYNC2I2	ORPHA:93271
HP:0000271	Abnormality of the face	4281	MID1	OMIM:300000
HP:0000271	Abnormality of the face	2314	FLII	ORPHA:819
HP:0000271	Abnormality of the face	23096	IQSEC2	ORPHA:819
HP:0000271	Abnormality of the face	10743	RAI1	ORPHA:819
HP:0000271	Abnormality of the face	10522	DEAF1	ORPHA:819
HP:0000271	Abnormality of the face	10522	DEAF1	OMIM:615828
HP:0000271	Abnormality of the face	6662	SOX9	OMIM:114290
HP:0000271	Abnormality of the face	5744	PTHLH	ORPHA:93387
HP:0000271	Abnormality of the face	3239	HOXD13	ORPHA:93387
HP:0000271	Abnormality of the face	4758	NEU1	ORPHA:812
HP:0000271	Abnormality of the face	150468	CKAP2L	ORPHA:3255
HP:0000271	Abnormality of the face	4038	LRP4	ORPHA:3258
HP:0000271	Abnormality of the face	4038	LRP4	OMIM:614305
HP:0000271	Abnormality of the face	324	APC	ORPHA:3258
HP:0000271	Abnormality of the face	51360	MBTPS2	ORPHA:2273
HP:0000271	Abnormality of the face	57492	ARID1B	OMIM:135900
HP:0000271	Abnormality of the face	672	BRCA1	ORPHA:84
HP:0000271	Abnormality of the face	10459	MAD2L2	ORPHA:84
HP:0000271	Abnormality of the face	7516	XRCC2	ORPHA:84
HP:0000271	Abnormality of the face	29089	UBE2T	ORPHA:84
HP:0000271	Abnormality of the face	675	BRCA2	ORPHA:84
HP:0000271	Abnormality of the face	55120	FANCL	ORPHA:84
HP:0000271	Abnormality of the face	2177	FANCD2	ORPHA:84
HP:0000271	Abnormality of the face	2175	FANCA	ORPHA:84
HP:0000271	Abnormality of the face	2187	FANCB	ORPHA:84
HP:0000271	Abnormality of the face	2176	FANCC	ORPHA:84
HP:0000271	Abnormality of the face	2178	FANCE	ORPHA:84
HP:0000271	Abnormality of the face	2188	FANCF	ORPHA:84
HP:0000271	Abnormality of the face	2189	FANCG	ORPHA:84
HP:0000271	Abnormality of the face	5888	RAD51	ORPHA:84
HP:0000271	Abnormality of the face	5889	RAD51C	ORPHA:84
HP:0000271	Abnormality of the face	55159	RFWD3	ORPHA:84
HP:0000271	Abnormality of the face	83990	BRIP1	ORPHA:84
HP:0000271	Abnormality of the face	57697	FANCM	ORPHA:84
HP:0000271	Abnormality of the face	79728	PALB2	ORPHA:84
HP:0000271	Abnormality of the face	84464	SLX4	ORPHA:84
HP:0000271	Abnormality of the face	2072	ERCC4	ORPHA:84
HP:0000271	Abnormality of the face	55215	FANCI	ORPHA:84
HP:0000271	Abnormality of the face	83550	GPR101	ORPHA:963
HP:0000271	Abnormality of the face	9049	AIP	ORPHA:963
HP:0000271	Abnormality of the face	9049	AIP	ORPHA:99725
HP:0000271	Abnormality of the face	23116	TOGARAM1	OMIM:619185
HP:0000271	Abnormality of the face	9377	COX5A	OMIM:619064
HP:0000271	Abnormality of the face	9839	ZEB2	ORPHA:261552
HP:0000271	Abnormality of the face	1327	COX4I1	OMIM:619060
HP:0000271	Abnormality of the face	860	RUNX2	OMIM:119600
HP:0000271	Abnormality of the face	860	RUNX2	ORPHA:1452
HP:0000271	Abnormality of the face	9184	BUB3	ORPHA:1052
HP:0000271	Abnormality of the face	699	BUB1	ORPHA:1052
HP:0000271	Abnormality of the face	9702	CEP57	ORPHA:1052
HP:0000271	Abnormality of the face	9702	CEP57	OMIM:614114
HP:0000271	Abnormality of the face	9319	TRIP13	ORPHA:1052
HP:0000271	Abnormality of the face	701	BUB1B	ORPHA:1052
HP:0000271	Abnormality of the face	10682	EBP	ORPHA:35173
HP:0000271	Abnormality of the face	10682	EBP	OMIM:302960
HP:0000271	Abnormality of the face	4591	TRIM37	OMIM:253250
HP:0000271	Abnormality of the face	1954	MEGF8	OMIM:614976
HP:0000271	Abnormality of the face	4338	MOCS2	OMIM:252160
HP:0000271	Abnormality of the face	25942	SIN3A	OMIM:613406
HP:0000271	Abnormality of the face	3425	IDUA	OMIM:607014
HP:0000271	Abnormality of the face	3425	IDUA	ORPHA:93473
HP:0000271	Abnormality of the face	6197	RPS6KA3	ORPHA:276630
HP:0000271	Abnormality of the face	6197	RPS6KA3	ORPHA:192
HP:0000271	Abnormality of the face	2697	GJA1	OMIM:257850
HP:0000271	Abnormality of the face	1857	DVL3	ORPHA:3107
HP:0000271	Abnormality of the face	1857	DVL3	OMIM:616894
HP:0000271	Abnormality of the face	2535	FZD2	ORPHA:3107
HP:0000271	Abnormality of the face	2535	FZD2	OMIM:164745
HP:0000271	Abnormality of the face	2535	FZD2	ORPHA:93328
HP:0000271	Abnormality of the face	5290	PIK3CA	ORPHA:60040
HP:0000271	Abnormality of the face	285175	UNC80	OMIM:616801
HP:0000271	Abnormality of the face	285175	UNC80	ORPHA:371364
HP:0000271	Abnormality of the face	11128	POLR3A	OMIM:264090
HP:0000271	Abnormality of the face	11128	POLR3A	ORPHA:3455
HP:0000271	Abnormality of the face	57459	GATAD2B	ORPHA:363686
HP:0000271	Abnormality of the face	728294	D2HGDH	OMIM:600721
HP:0000271	Abnormality of the face	6774	STAT3	OMIM:147060
HP:0000271	Abnormality of the face	5159	PDGFRB	OMIM:601812
HP:0000271	Abnormality of the face	5324	PLAG1	ORPHA:397590
HP:0000271	Abnormality of the face	182	JAG1	OMIM:118450
HP:0000271	Abnormality of the face	5832	ALDH18A1	OMIM:219150
HP:0000271	Abnormality of the face	4221	MEN1	ORPHA:99725
HP:0000271	Abnormality of the face	471	ATIC	OMIM:608688
HP:0000271	Abnormality of the face	114548	NLRP3	OMIM:607115
HP:0000271	Abnormality of the face	114548	NLRP3	ORPHA:1451
HP:0000271	Abnormality of the face	5295	PIK3R1	OMIM:269880
HP:0000271	Abnormality of the face	254065	BRWD3	OMIM:300659
HP:0000271	Abnormality of the face	9652	SKIC3	OMIM:222470
HP:0000271	Abnormality of the face	10661	KLF1	OMIM:613673
HP:0000271	Abnormality of the face	729920	CRPPA	OMIM:614643
HP:0000271	Abnormality of the face	1302	COL11A2	OMIM:614524
HP:0000271	Abnormality of the face	4313	MMP2	OMIM:259600
HP:0000271	Abnormality of the face	91252	SLC39A13	OMIM:612350
HP:0000271	Abnormality of the face	2702	GJA5	OMIM:612474
HP:0000271	Abnormality of the face	2703	GJA8	OMIM:612474
HP:0000271	Abnormality of the face	27152	INTU	OMIM:617925
HP:0000271	Abnormality of the face	51053	GMNN	OMIM:616835
HP:0000271	Abnormality of the face	132	ADK	OMIM:614300
HP:0000271	Abnormality of the face	9759	HDAC4	ORPHA:1001
HP:0000271	Abnormality of the face	11133	KPTN	OMIM:615637
HP:0000271	Abnormality of the face	11133	KPTN	ORPHA:397612
HP:0000271	Abnormality of the face	23028	KDM1A	OMIM:616728
HP:0000271	Abnormality of the face	79650	USB1	OMIM:604173
HP:0000271	Abnormality of the face	5160	PDHA1	OMIM:312170
HP:0000271	Abnormality of the face	4792	NFKBIA	OMIM:612132
HP:0000271	Abnormality of the face	2902	GRIN1	OMIM:617820
HP:0000271	Abnormality of the face	10735	STAG2	OMIM:301022
HP:0000271	Abnormality of the face	5604	MAP2K1	ORPHA:1340
HP:0000271	Abnormality of the face	5605	MAP2K2	ORPHA:1340
HP:0000271	Abnormality of the face	29940	DSE	OMIM:615539
HP:0000271	Abnormality of the face	8517	IKBKG	OMIM:300291
HP:0000271	Abnormality of the face	1000	CDH2	OMIM:618929
HP:0000271	Abnormality of the face	176	ACAN	OMIM:165800
HP:0000271	Abnormality of the face	3758	KCNJ1	OMIM:241200
HP:0000271	Abnormality of the face	25	ABL1	OMIM:617602
HP:0000271	Abnormality of the face	4041	LRP5	ORPHA:2788
HP:0000271	Abnormality of the face	54551	MAGEL2	OMIM:615547
HP:0000271	Abnormality of the face	9419	CRIPT	OMIM:615789
HP:0000271	Abnormality of the face	139285	AMER1	ORPHA:2780
HP:0000271	Abnormality of the face	139285	AMER1	OMIM:300373
HP:0000271	Abnormality of the face	55644	OSGEP	OMIM:617729
HP:0000271	Abnormality of the face	2313	FLI1	ORPHA:2308
HP:0000271	Abnormality of the face	2517	FUCA1	OMIM:230000
HP:0000271	Abnormality of the face	7204	TRIO	OMIM:618825
HP:0000271	Abnormality of the face	4337	MOCS1	OMIM:252150
HP:0000271	Abnormality of the face	51520	LARS1	OMIM:615438
HP:0000271	Abnormality of the face	4329	ALDH6A1	OMIM:614105
HP:0000271	Abnormality of the face	7040	TGFB1	ORPHA:1328
HP:0000271	Abnormality of the face	5293	PIK3CD	ORPHA:221139
HP:0000271	Abnormality of the face	90417	KNSTRN	ORPHA:221139
HP:0000271	Abnormality of the face	23545	ATP6V0A2	OMIM:219200
HP:0000271	Abnormality of the face	128178	EDARADD	OMIM:224900
HP:0000271	Abnormality of the face	10913	EDAR	OMIM:224900
HP:0000271	Abnormality of the face	60401	EDA2R	ORPHA:181
HP:0000271	Abnormality of the face	6519	SLC3A1	ORPHA:163690
HP:0000271	Abnormality of the face	6519	SLC3A1	ORPHA:163693
HP:0000271	Abnormality of the face	9581	PREPL	ORPHA:163690
HP:0000271	Abnormality of the face	9581	PREPL	ORPHA:163693
HP:0000271	Abnormality of the face	84628	NTNG2	OMIM:618718
HP:0000271	Abnormality of the face	113246	C12orf57	OMIM:218340
HP:0000271	Abnormality of the face	5495	PPM1B	ORPHA:163693
HP:0000271	Abnormality of the face	79823	CAMKMT	ORPHA:163693
HP:0000271	Abnormality of the face	51	ACOX1	OMIM:264470
HP:0000271	Abnormality of the face	5296	PIK3R2	OMIM:603387
HP:0000271	Abnormality of the face	126792	B3GALT6	ORPHA:536467
HP:0000271	Abnormality of the face	126792	B3GALT6	OMIM:615349
HP:0000271	Abnormality of the face	23247	KATNIP	OMIM:616784
HP:0000271	Abnormality of the face	10020	GNE	OMIM:269921
HP:0000271	Abnormality of the face	8777	MPDZ	OMIM:615219
HP:0000271	Abnormality of the face	5449	POU1F1	OMIM:613038
HP:0000271	Abnormality of the face	23389	MED13L	OMIM:616789
HP:0000271	Abnormality of the face	9757	KMT2B	OMIM:619934
HP:0000271	Abnormality of the face	10210	TOPORS	ORPHA:2754
HP:0000271	Abnormality of the face	26123	TCTN3	ORPHA:2754
HP:0000271	Abnormality of the face	5147	PDE6D	ORPHA:2754
HP:0000271	Abnormality of the face	65250	CPLANE1	ORPHA:2754
HP:0000271	Abnormality of the face	317662	FAM149B1	ORPHA:2754
HP:0000271	Abnormality of the face	9469	CHST3	OMIM:245600
HP:0000271	Abnormality of the face	26229	B3GAT3	OMIM:245600
HP:0000271	Abnormality of the face	1280	COL2A1	OMIM:200610
HP:0000271	Abnormality of the face	2036	EPB41L1	OMIM:614257
HP:0000271	Abnormality of the face	10736	SIX2	ORPHA:488437
HP:0000271	Abnormality of the face	8398	PLA2G6	OMIM:256600
HP:0000271	Abnormality of the face	26281	FGF20	OMIM:615721
HP:0000271	Abnormality of the face	183	AGT	OMIM:267430
HP:0000271	Abnormality of the face	5972	REN	OMIM:267430
HP:0000271	Abnormality of the face	185	AGTR1	OMIM:267430
HP:0000271	Abnormality of the face	1636	ACE	OMIM:267430
HP:0000271	Abnormality of the face	7317	UBA1	ORPHA:1145
HP:0000271	Abnormality of the face	2674	GFRA1	OMIM:619887
HP:0000271	Abnormality of the face	5076	PAX2	ORPHA:97362
HP:0000271	Abnormality of the face	8516	ITGA8	OMIM:191830
HP:0000271	Abnormality of the face	55165	CEP55	OMIM:236500
HP:0000271	Abnormality of the face	27031	NPHP3	OMIM:208540
HP:0000271	Abnormality of the face	5314	PKHD1	OMIM:263200
HP:0000271	Abnormality of the face	55656	INTS8	OMIM:618572
HP:0000271	Abnormality of the face	29925	GMPPB	OMIM:615351
HP:0000271	Abnormality of the face	6536	SLC6A9	OMIM:617301
HP:0000271	Abnormality of the face	84340	GFM2	OMIM:618397
HP:0000271	Abnormality of the face	84340	GFM2	ORPHA:565624
HP:0000271	Abnormality of the face	3908	LAMA2	ORPHA:258
HP:0000271	Abnormality of the face	55681	SCYL2	ORPHA:1143
HP:0000271	Abnormality of the face	57222	ERGIC1	ORPHA:1143
HP:0000271	Abnormality of the face	29967	LRP12	OMIM:164310
HP:0000271	Abnormality of the face	9570	GOSR2	OMIM:620166
HP:0000271	Abnormality of the face	57731	SPTBN4	OMIM:617519
HP:0000271	Abnormality of the face	4620	MYH2	OMIM:605637
HP:0000271	Abnormality of the face	27072	VPS41	OMIM:619389
HP:0000271	Abnormality of the face	128989	TANGO2	OMIM:616878
HP:0000271	Abnormality of the face	6443	SGCB	ORPHA:119
HP:0000271	Abnormality of the face	5317	PKP1	OMIM:604536
HP:0000271	Abnormality of the face	8313	AXIN2	OMIM:608615
HP:0000271	Abnormality of the face	1832	DSP	ORPHA:158687
HP:0000271	Abnormality of the face	3728	JUP	ORPHA:158687
HP:0000271	Abnormality of the face	64682	ANAPC1	OMIM:618625
HP:0000271	Abnormality of the face	3891	KRT85	OMIM:602032
HP:0000271	Abnormality of the face	55806	HR	ORPHA:701
HP:0000271	Abnormality of the face	55806	HR	OMIM:203655
HP:0000271	Abnormality of the face	10804	GJB6	ORPHA:189
HP:0000271	Abnormality of the face	4000	LMNA	ORPHA:740
HP:0000271	Abnormality of the face	4000	LMNA	ORPHA:363618
HP:0000271	Abnormality of the face	10269	ZMPSTE24	ORPHA:740
HP:0000271	Abnormality of the face	84946	LTV1	OMIM:620199
HP:0000271	Abnormality of the face	5297	PI4KA	ORPHA:436252
HP:0000271	Abnormality of the face	57217	TTC7A	ORPHA:436252
HP:0000271	Abnormality of the face	1001	CDH3	ORPHA:1897
HP:0000271	Abnormality of the face	5077	PAX3	ORPHA:894
HP:0000271	Abnormality of the face	5077	PAX3	OMIM:193500
HP:0000271	Abnormality of the face	1910	EDNRB	OMIM:600501
HP:0000271	Abnormality of the face	1910	EDNRB	OMIM:277580
HP:0000271	Abnormality of the face	1910	EDNRB	ORPHA:897
HP:0000271	Abnormality of the face	1908	EDN3	OMIM:613265
HP:0000271	Abnormality of the face	1908	EDN3	ORPHA:897
HP:0000271	Abnormality of the face	79083	MLPH	OMIM:609227
HP:0000271	Abnormality of the face	4157	MC1R	ORPHA:79432
HP:0000271	Abnormality of the face	4948	OCA2	ORPHA:79432
HP:0000271	Abnormality of the face	7306	TYRP1	ORPHA:79433
HP:0000271	Abnormality of the face	6591	SNAI2	ORPHA:2884
HP:0000271	Abnormality of the face	3815	KIT	ORPHA:2884
HP:0000271	Abnormality of the face	4644	MYO5A	OMIM:214450
HP:0000271	Abnormality of the face	27019	DNAI1	OMIM:244400
HP:0000271	Abnormality of the face	27019	DNAI1	ORPHA:244
HP:0000271	Abnormality of the face	374407	DNAJB13	OMIM:617091
HP:0000271	Abnormality of the face	374407	DNAJB13	ORPHA:244
HP:0000271	Abnormality of the face	83538	ODAD4	OMIM:617092
HP:0000271	Abnormality of the face	83538	ODAD4	ORPHA:244
HP:0000271	Abnormality of the face	1770	DNAH9	OMIM:618300
HP:0000271	Abnormality of the face	1770	DNAH9	ORPHA:244
HP:0000271	Abnormality of the face	83861	RSPH3	OMIM:616481
HP:0000271	Abnormality of the face	83861	RSPH3	ORPHA:244
HP:0000271	Abnormality of the face	55130	ODAD2	OMIM:615451
HP:0000271	Abnormality of the face	55130	ODAD2	ORPHA:244
HP:0000271	Abnormality of the face	25981	DNAH1	OMIM:617577
HP:0000271	Abnormality of the face	25981	DNAH1	ORPHA:244
HP:0000271	Abnormality of the face	2622	GAS8	OMIM:616726
HP:0000271	Abnormality of the face	2622	GAS8	ORPHA:244
HP:0000271	Abnormality of the face	64446	DNAI2	OMIM:612444
HP:0000271	Abnormality of the face	64446	DNAI2	ORPHA:244
HP:0000271	Abnormality of the face	54970	TTC12	OMIM:618801
HP:0000271	Abnormality of the face	54970	TTC12	ORPHA:244
HP:0000271	Abnormality of the face	54440	SASH3	OMIM:301082
HP:0000271	Abnormality of the face	345895	RSPH4A	OMIM:612649
HP:0000271	Abnormality of the face	345895	RSPH4A	ORPHA:244
HP:0000271	Abnormality of the face	79087	ALG12	ORPHA:79324
HP:0000271	Abnormality of the face	10312	TCIRG1	ORPHA:667
HP:0000271	Abnormality of the face	1186	CLCN7	ORPHA:667
HP:0000271	Abnormality of the face	29887	SNX10	ORPHA:667
HP:0000271	Abnormality of the face	8600	TNFSF11	ORPHA:667
HP:0000271	Abnormality of the face	115948	ODAD3	ORPHA:244
HP:0000271	Abnormality of the face	54768	HYDIN	ORPHA:244
HP:0000271	Abnormality of the face	54768	HYDIN	OMIM:608647
HP:0000271	Abnormality of the face	352909	DNAAF3	ORPHA:244
HP:0000271	Abnormality of the face	27148	STK36	ORPHA:244
HP:0000271	Abnormality of the face	51314	NME8	ORPHA:244
HP:0000271	Abnormality of the face	92749	DRC1	ORPHA:244
HP:0000271	Abnormality of the face	152110	NEK10	ORPHA:244
HP:0000271	Abnormality of the face	2302	FOXJ1	ORPHA:244
HP:0000271	Abnormality of the face	2302	FOXJ1	OMIM:618699
HP:0000271	Abnormality of the face	221421	RSPH9	ORPHA:244
HP:0000271	Abnormality of the face	221421	RSPH9	OMIM:612650
HP:0000271	Abnormality of the face	85478	CCDC65	ORPHA:244
HP:0000271	Abnormality of the face	55036	CCDC40	ORPHA:244
HP:0000271	Abnormality of the face	51364	ZMYND10	ORPHA:244
HP:0000271	Abnormality of the face	6674	SPAG1	ORPHA:244
HP:0000271	Abnormality of the face	83544	DNAL1	ORPHA:244
HP:0000271	Abnormality of the face	83544	DNAL1	OMIM:614017
HP:0000271	Abnormality of the face	89765	RSPH1	ORPHA:244
HP:0000271	Abnormality of the face	89765	RSPH1	OMIM:615481
HP:0000271	Abnormality of the face	200373	CFAP221	ORPHA:244
HP:0000271	Abnormality of the face	55172	DNAAF2	ORPHA:244
HP:0000271	Abnormality of the face	161582	DNAAF4	ORPHA:244
HP:0000271	Abnormality of the face	161582	DNAAF4	OMIM:615482
HP:0000271	Abnormality of the face	23639	DNAAF11	ORPHA:244
HP:0000271	Abnormality of the face	54919	DNAAF5	ORPHA:244
HP:0000271	Abnormality of the face	6103	RPGR	ORPHA:244
HP:0000271	Abnormality of the face	388389	CCDC103	ORPHA:244
HP:0000271	Abnormality of the face	388389	CCDC103	OMIM:614679
HP:0000271	Abnormality of the face	93233	ODAD1	ORPHA:244
HP:0000271	Abnormality of the face	1767	DNAH5	ORPHA:244
HP:0000271	Abnormality of the face	345643	MCIDAS	ORPHA:244
HP:0000271	Abnormality of the face	345643	MCIDAS	OMIM:618695
HP:0000271	Abnormality of the face	56683	CFAP298	ORPHA:244
HP:0000271	Abnormality of the face	79925	SPEF2	ORPHA:244
HP:0000271	Abnormality of the face	10309	CCNO	ORPHA:244
HP:0000271	Abnormality of the face	115399	LRRC56	ORPHA:244
HP:0000271	Abnormality of the face	139212	DNAAF6	ORPHA:244
HP:0000271	Abnormality of the face	123872	DNAAF1	ORPHA:244
HP:0000271	Abnormality of the face	85016	CFAP300	ORPHA:244
HP:0000271	Abnormality of the face	339829	CCDC39	ORPHA:244
HP:0000271	Abnormality of the face	8701	DNAH11	ORPHA:244
HP:0000271	Abnormality of the face	8701	DNAH11	OMIM:611884
HP:0000271	Abnormality of the face	246176	GAS2L2	ORPHA:244
HP:0000271	Abnormality of the face	22861	NLRP1	OMIM:615225
HP:0000271	Abnormality of the face	11005	SPINK5	OMIM:256500
HP:0000271	Abnormality of the face	55315	SLC29A3	ORPHA:168569
HP:0000271	Abnormality of the face	3192	HNRNPU	ORPHA:238769
HP:0000271	Abnormality of the face	6595	SMARCA2	OMIM:619293
HP:0000271	Abnormality of the face	2239	GPC4	OMIM:301026
HP:0000271	Abnormality of the face	2239	GPC4	ORPHA:2662
HP:0000271	Abnormality of the face	5898	RALA	OMIM:619311
HP:0000271	Abnormality of the face	7355	SLC35A2	OMIM:300896
HP:0000271	Abnormality of the face	1182	CLCN3	OMIM:619512
HP:0000271	Abnormality of the face	9320	TRIP12	OMIM:617752
HP:0000271	Abnormality of the face	51604	PIGT	ORPHA:369837
HP:0000271	Abnormality of the face	145173	B3GLCT	OMIM:261540
HP:0000271	Abnormality of the face	145173	B3GLCT	ORPHA:709
HP:0000271	Abnormality of the face	6659	SOX4	OMIM:618506
HP:0000271	Abnormality of the face	81857	MED25	ORPHA:464738
HP:0000271	Abnormality of the face	1788	DNMT3A	OMIM:615879
HP:0000271	Abnormality of the face	4897	NRCAM	OMIM:619833
HP:0000271	Abnormality of the face	93627	TBCK	OMIM:616900
HP:0000271	Abnormality of the face	79753	SNIP1	OMIM:614501
HP:0000271	Abnormality of the face	773	CACNA1A	ORPHA:2131
HP:0000271	Abnormality of the face	6507	SLC1A3	ORPHA:2131
HP:0000271	Abnormality of the face	477	ATP1A2	ORPHA:2131
HP:0000271	Abnormality of the face	478	ATP1A3	ORPHA:2131
HP:0000271	Abnormality of the face	64359	NXN	ORPHA:1507
HP:0000271	Abnormality of the face	4920	ROR2	ORPHA:1507
HP:0000271	Abnormality of the face	3190	HNRNPK	ORPHA:352665
HP:0000271	Abnormality of the face	3190	HNRNPK	ORPHA:453504
HP:0000271	Abnormality of the face	11198	SUPT16H	OMIM:619480
HP:0000271	Abnormality of the face	374654	KIF7	OMIM:200990
HP:0000271	Abnormality of the face	3020	H3-3A	OMIM:619720
HP:0000271	Abnormality of the face	388015	RTL1	ORPHA:254528
HP:0000271	Abnormality of the face	8788	DLK1	ORPHA:254528
HP:0000271	Abnormality of the face	55384	MEG3	ORPHA:254528
HP:0000271	Abnormality of the face	9442	MED27	OMIM:619286
HP:0000271	Abnormality of the face	57178	ZMIZ1	OMIM:618659
HP:0000271	Abnormality of the face	9772	TMEM94	OMIM:618316
HP:0000271	Abnormality of the face	3720	JARID2	OMIM:620098
HP:0000271	Abnormality of the face	58499	ZNF462	OMIM:618619
HP:0000271	Abnormality of the face	4297	KMT2A	OMIM:605130
HP:0000271	Abnormality of the face	5010	CLDN11	OMIM:619328
HP:0000271	Abnormality of the face	2192	FBLN1	ORPHA:404451
HP:0000271	Abnormality of the face	80856	LNPK	OMIM:618090
HP:0000271	Abnormality of the face	10846	PDE10A	ORPHA:494526
HP:0000271	Abnormality of the face	10846	PDE10A	OMIM:616921
HP:0000271	Abnormality of the face	3747	KCNC2	OMIM:619913
HP:0000271	Abnormality of the face	57526	PCDH19	ORPHA:33069
HP:0000271	Abnormality of the face	1737	DLAT	OMIM:245348
HP:0000271	Abnormality of the face	55739	NAXD	OMIM:618321
HP:0000271	Abnormality of the face	57679	ALS2	OMIM:205100
HP:0000271	Abnormality of the face	57679	ALS2	OMIM:606353
HP:0000271	Abnormality of the face	6329	SCN4A	ORPHA:99734
HP:0000271	Abnormality of the face	137682	NDUFAF6	OMIM:618239
HP:0000271	Abnormality of the face	8888	MCM3AP	OMIM:618124
HP:0000271	Abnormality of the face	388662	SLC6A17	ORPHA:457212
HP:0000271	Abnormality of the face	1315	COPB1	OMIM:619255
HP:0000271	Abnormality of the face	4629	MYH11	ORPHA:91387
HP:0000271	Abnormality of the face	59	ACTA2	ORPHA:91387
HP:0000271	Abnormality of the face	5592	PRKG1	ORPHA:91387
HP:0000271	Abnormality of the face	2301	FOXE3	ORPHA:91387
HP:0000271	Abnormality of the face	4144	MAT2A	ORPHA:91387
HP:0000271	Abnormality of the face	23493	HEY2	ORPHA:91387
HP:0000271	Abnormality of the face	4638	MYLK	ORPHA:91387
HP:0000271	Abnormality of the face	57531	HACE1	ORPHA:464282
HP:0000271	Abnormality of the face	79651	RHBDF2	OMIM:148500
HP:0000271	Abnormality of the face	286887	KRT6C	OMIM:615735
HP:0000271	Abnormality of the face	6117	RPA1	OMIM:619767
HP:0000271	Abnormality of the face	64858	DCLRE1B	OMIM:620133
HP:0000271	Abnormality of the face	83483	PLVAP	OMIM:618183
HP:0000271	Abnormality of the face	4860	PNP	OMIM:613179
HP:0000271	Abnormality of the face	3932	LCK	OMIM:615758
HP:0000271	Abnormality of the face	6809	STX3	OMIM:619446
HP:0000271	Abnormality of the face	11151	CORO1A	OMIM:615401
HP:0000271	Abnormality of the face	3952	LEP	ORPHA:66628
HP:0000271	Abnormality of the face	3952	LEP	OMIM:614962
HP:0000271	Abnormality of the face	3953	LEPR	OMIM:614963
HP:0000271	Abnormality of the face	3953	LEPR	ORPHA:179494
HP:0000271	Abnormality of the face	8456	FOXN1	OMIM:618806
HP:0000271	Abnormality of the face	6772	STAT1	ORPHA:391487
HP:0000271	Abnormality of the face	10043	TOM1	ORPHA:391487
HP:0000271	Abnormality of the face	920	CD4	OMIM:619238
HP:0000271	Abnormality of the face	3570	IL6R	OMIM:618944
HP:0000271	Abnormality of the face	5971	RELB	OMIM:617585
HP:0000271	Abnormality of the face	7388	UQCRH	OMIM:620137
HP:0000271	Abnormality of the face	9138	ARHGEF1	OMIM:618459
HP:0000271	Abnormality of the face	3588	IL10RB	OMIM:612567
HP:0000271	Abnormality of the face	3561	IL2RG	OMIM:312863
HP:0000271	Abnormality of the face	472	ATM	OMIM:208900
HP:0000271	Abnormality of the face	8742	TNFSF12	ORPHA:1572
HP:0000271	Abnormality of the face	931	MS4A1	ORPHA:1572
HP:0000271	Abnormality of the face	975	CD81	ORPHA:1572
HP:0000271	Abnormality of the face	56006	SMG9	OMIM:619995
HP:0000271	Abnormality of the face	2556	GABRA3	OMIM:301091
HP:0000271	Abnormality of the face	64840	PORCN	OMIM:305600
HP:0000271	Abnormality of the face	10999	SLC27A4	OMIM:608649
HP:0000271	Abnormality of the face	1369	CPN1	OMIM:212070
HP:0000271	Abnormality of the face	7941	PLA2G7	OMIM:147050
HP:0000271	Abnormality of the face	50615	IL21R	OMIM:147050
HP:0000271	Abnormality of the face	3566	IL4R	OMIM:147050
HP:0000271	Abnormality of the face	2206	MS4A2	OMIM:147050
HP:0000271	Abnormality of the face	146206	CARMIL2	OMIM:618131
HP:0000271	Abnormality of the face	5238	PGM3	ORPHA:443811
HP:0000271	Abnormality of the face	5238	PGM3	OMIM:615816
HP:0000271	Abnormality of the face	5336	PLCG2	OMIM:614468
HP:0000271	Abnormality of the face	84701	COX4I2	OMIM:612714
HP:0000271	Abnormality of the face	3514	IGKC	ORPHA:183675
HP:0000271	Abnormality of the face	3501	IGHG2	ORPHA:183675
HP:0000271	Abnormality of the face	10617	STAMBP	OMIM:614261
HP:0000271	Abnormality of the face	28960	DCPS	OMIM:616459
HP:0000271	Abnormality of the face	28514	DLL1	ORPHA:280200
HP:0000271	Abnormality of the face	7050	TGIF1	ORPHA:280200
HP:0000271	Abnormality of the face	4838	NODAL	ORPHA:280200
HP:0000271	Abnormality of the face	2619	GAS1	ORPHA:280200
HP:0000271	Abnormality of the face	84976	DISP1	ORPHA:280200
HP:0000271	Abnormality of the face	8928	FOXH1	ORPHA:280200
HP:0000271	Abnormality of the face	50937	CDON	ORPHA:280200
HP:0000271	Abnormality of the face	10606	PAICS	OMIM:619859
HP:0000271	Abnormality of the face	2770	GNAI1	OMIM:619854
HP:0000271	Abnormality of the face	4330	MN1	OMIM:618774
HP:0000271	Abnormality of the face	2903	GRIN2A	ORPHA:289266
HP:0000271	Abnormality of the face	2903	GRIN2A	OMIM:245570
HP:0000271	Abnormality of the face	54928	BPNT2	OMIM:614078
HP:0000271	Abnormality of the face	25973	PARS2	OMIM:618437
HP:0000271	Abnormality of the face	4208	MEF2C	ORPHA:228384
HP:0000271	Abnormality of the face	4208	MEF2C	OMIM:613443
HP:0000271	Abnormality of the face	1859	DYRK1A	ORPHA:268261
HP:0000271	Abnormality of the face	2530	FUT8	OMIM:618005
HP:0000271	Abnormality of the face	551	AVP	OMIM:125700
HP:0000271	Abnormality of the face	11342	RNF13	OMIM:618379
HP:0000271	Abnormality of the face	11342	RNF13	ORPHA:544503
HP:0000271	Abnormality of the face	158	ADSL	OMIM:103050
HP:0000271	Abnormality of the face	158	ADSL	ORPHA:46
HP:0000271	Abnormality of the face	10978	CLP1	OMIM:615803
HP:0000271	Abnormality of the face	4001	LMNB1	OMIM:619179
HP:0000271	Abnormality of the face	8913	CACNA1G	OMIM:618087
HP:0000271	Abnormality of the face	1889	ECE1	OMIM:613870
HP:0000271	Abnormality of the face	2752	GLUL	OMIM:610015
HP:0000271	Abnormality of the face	5063	PAK3	OMIM:300558
HP:0000271	Abnormality of the face	2677	GGCX	OMIM:277450
HP:0000271	Abnormality of the face	80324	PUS1	ORPHA:2598
HP:0000271	Abnormality of the face	51067	YARS2	ORPHA:2598
HP:0000271	Abnormality of the face	7407	VARS1	OMIM:617802
HP:0000271	Abnormality of the face	84162	BLTP1	OMIM:617822
HP:0000271	Abnormality of the face	3313	HSPA9	OMIM:616854
HP:0000271	Abnormality of the face	3767	KCNJ11	ORPHA:79134
HP:0000271	Abnormality of the face	6833	ABCC8	ORPHA:79134
HP:0000271	Abnormality of the face	197131	UBR1	ORPHA:2315
HP:0000271	Abnormality of the face	25885	POLR1A	ORPHA:1200
HP:0000271	Abnormality of the face	10907	TXNL4A	ORPHA:1200
HP:0000271	Abnormality of the face	202018	TAPT1	OMIM:616897
HP:0000271	Abnormality of the face	54676	GTPBP2	OMIM:617988
HP:0000271	Abnormality of the face	5331	PLCB3	OMIM:618961
HP:0000271	Abnormality of the face	11141	IL1RAPL1	OMIM:300143
HP:0000271	Abnormality of the face	92935	MARS2	OMIM:616430
HP:0000271	Abnormality of the face	406932	MIR140	OMIM:618618
HP:0000271	Abnormality of the face	2591	GALNT3	OMIM:211900
HP:0000271	Abnormality of the face	1834	DSPP	OMIM:125420
HP:0000271	Abnormality of the face	3166	HMX1	OMIM:612109
HP:0000271	Abnormality of the face	5805	PTS	ORPHA:13
HP:0000271	Abnormality of the face	5805	PTS	OMIM:261640
HP:0000271	Abnormality of the face	3106	HLA-B	ORPHA:36426
HP:0000271	Abnormality of the face	10320	IKZF1	ORPHA:36426
HP:0000271	Abnormality of the face	5860	QDPR	OMIM:261630
HP:0000271	Abnormality of the face	55697	VAC14	OMIM:617054
HP:0000271	Abnormality of the face	57468	SLC12A5	OMIM:616645
HP:0000271	Abnormality of the face	2643	GCH1	OMIM:233910
HP:0000271	Abnormality of the face	9256	TSPOAP1	ORPHA:101150
HP:0000271	Abnormality of the face	94	ACVRL1	OMIM:600376
HP:0000271	Abnormality of the face	2022	ENG	OMIM:187300
HP:0000271	Abnormality of the face	2811	GP1BA	ORPHA:274
HP:0000271	Abnormality of the face	2815	GP9	ORPHA:274
HP:0000271	Abnormality of the face	84343	HPS3	OMIM:614072
HP:0000271	Abnormality of the face	3674	ITGA2B	ORPHA:849
HP:0000271	Abnormality of the face	3690	ITGB3	ORPHA:849
HP:0000271	Abnormality of the face	4627	MYH9	ORPHA:182050
HP:0000271	Abnormality of the face	1130	LYST	OMIM:214500
HP:0000271	Abnormality of the face	2658	GDF2	OMIM:615506
HP:0000271	Abnormality of the face	56172	ANKH	OMIM:123000
HP:0000271	Abnormality of the face	3064	HTT	ORPHA:399
HP:0000271	Abnormality of the face	6515	SLC2A3	ORPHA:399
HP:0000271	Abnormality of the face	3972	LHB	OMIM:228300
HP:0000271	Abnormality of the face	558	AXL	OMIM:146110
HP:0000271	Abnormality of the face	2798	GNRHR	OMIM:146110
HP:0000271	Abnormality of the face	2796	GNRH1	OMIM:146110
HP:0000271	Abnormality of the face	10011	SRA1	OMIM:146110
HP:0000271	Abnormality of the face	219844	HYLS1	ORPHA:2189
HP:0000271	Abnormality of the face	4771	NF2	ORPHA:2495
HP:0000271	Abnormality of the face	6608	SMO	ORPHA:2495
HP:0000271	Abnormality of the face	7015	TERT	ORPHA:2495
HP:0000271	Abnormality of the face	2488	FSHB	OMIM:229070
HP:0000271	Abnormality of the face	10194	TSHZ1	OMIM:607842
HP:0000271	Abnormality of the face	23767	FLRT3	OMIM:615271
HP:0000271	Abnormality of the face	23767	FLRT3	ORPHA:478
HP:0000271	Abnormality of the face	128674	PROKR2	OMIM:244200
HP:0000271	Abnormality of the face	128674	PROKR2	ORPHA:478
HP:0000271	Abnormality of the face	11020	IFT27	OMIM:615996
HP:0000271	Abnormality of the face	120892	LRRK2	OMIM:607060
HP:0000271	Abnormality of the face	120892	LRRK2	ORPHA:411602
HP:0000271	Abnormality of the face	120892	LRRK2	ORPHA:2828
HP:0000271	Abnormality of the face	59335	PRDM12	OMIM:616488
HP:0000271	Abnormality of the face	54585	LZTFL1	OMIM:615994
HP:0000271	Abnormality of the face	23317	DNAJC13	ORPHA:411602
HP:0000271	Abnormality of the face	1981	EIF4G1	ORPHA:411602
HP:0000271	Abnormality of the face	55737	VPS35	ORPHA:411602
HP:0000271	Abnormality of the face	26058	GIGYF2	ORPHA:411602
HP:0000271	Abnormality of the face	6622	SNCA	ORPHA:411602
HP:0000271	Abnormality of the face	6622	SNCA	ORPHA:2828
HP:0000271	Abnormality of the face	2253	FGF8	OMIM:612702
HP:0000271	Abnormality of the face	2253	FGF8	ORPHA:478
HP:0000271	Abnormality of the face	60675	PROK2	OMIM:610628
HP:0000271	Abnormality of the face	60675	PROK2	ORPHA:478
HP:0000271	Abnormality of the face	3730	ANOS1	OMIM:308700
HP:0000271	Abnormality of the face	3730	ANOS1	ORPHA:478
HP:0000271	Abnormality of the face	81848	SPRY4	OMIM:615266
HP:0000271	Abnormality of the face	81848	SPRY4	ORPHA:478
HP:0000271	Abnormality of the face	6335	SCN9A	OMIM:243000
HP:0000271	Abnormality of the face	109	ADCY3	OMIM:617885
HP:0000271	Abnormality of the face	10371	SEMA3A	OMIM:614897
HP:0000271	Abnormality of the face	10371	SEMA3A	ORPHA:478
HP:0000271	Abnormality of the face	54832	VPS13C	ORPHA:2828
HP:0000271	Abnormality of the face	11315	PARK7	ORPHA:2828
HP:0000271	Abnormality of the face	7345	UCHL1	ORPHA:2828
HP:0000271	Abnormality of the face	27429	HTRA2	ORPHA:2828
HP:0000271	Abnormality of the face	9829	DNAJC6	ORPHA:2828
HP:0000271	Abnormality of the face	5420	PODXL	ORPHA:2828
HP:0000271	Abnormality of the face	65018	PINK1	ORPHA:2828
HP:0000271	Abnormality of the face	8867	SYNJ1	ORPHA:2828
HP:0000271	Abnormality of the face	5071	PRKN	ORPHA:2828
HP:0000271	Abnormality of the face	6342	SCP2	OMIM:613724
HP:0000271	Abnormality of the face	23516	SLC39A14	OMIM:144755
HP:0000271	Abnormality of the face	26012	NSMF	OMIM:614838
HP:0000271	Abnormality of the face	540	ATP7B	OMIM:277900
HP:0000271	Abnormality of the face	79625	NDNF	ORPHA:478
HP:0000271	Abnormality of the face	389549	FEZF1	ORPHA:478
HP:0000271	Abnormality of the face	1630	DCC	ORPHA:478
HP:0000271	Abnormality of the face	54756	IL17RD	ORPHA:478
HP:0000271	Abnormality of the face	6663	SOX10	ORPHA:478
HP:0000271	Abnormality of the face	285025	CCDC141	ORPHA:478
HP:0000271	Abnormality of the face	1848	DUSP6	ORPHA:478
HP:0000271	Abnormality of the face	6870	TACR3	ORPHA:478
HP:0000271	Abnormality of the face	55717	WDR11	ORPHA:478
HP:0000271	Abnormality of the face	9394	HS6ST1	ORPHA:478
HP:0000271	Abnormality of the face	8822	FGF17	ORPHA:478
HP:0000271	Abnormality of the face	56915	EXOSC5	OMIM:619576
HP:0000271	Abnormality of the face	91949	COG7	OMIM:608779
HP:0000271	Abnormality of the face	11285	B4GALT7	OMIM:130070
HP:0000271	Abnormality of the face	818	CAMK2G	OMIM:618522
HP:0000271	Abnormality of the face	55699	IARS2	OMIM:616007
HP:0000271	Abnormality of the face	2132	EXT2	ORPHA:466926
HP:0000271	Abnormality of the face	340665	CYP26C1	ORPHA:398189
HP:0000271	Abnormality of the face	4052	LTBP1	ORPHA:90349
HP:0000271	Abnormality of the face	30008	EFEMP2	ORPHA:90349
HP:0000271	Abnormality of the face	10516	FBLN5	ORPHA:90349
HP:0000271	Abnormality of the face	4035	LRP1	ORPHA:79100
HP:0000271	Abnormality of the face	23522	KAT6B	ORPHA:3047
HP:0000271	Abnormality of the face	6804	STX1A	ORPHA:904
HP:0000271	Abnormality of the face	7461	CLIP2	ORPHA:904
HP:0000271	Abnormality of the face	84277	DNAJC30	ORPHA:904
HP:0000271	Abnormality of the face	8468	FKBP6	ORPHA:904
HP:0000271	Abnormality of the face	5982	RFC2	ORPHA:904
HP:0000271	Abnormality of the face	2969	GTF2I	ORPHA:904
HP:0000271	Abnormality of the face	3984	LIMK1	ORPHA:904
HP:0000271	Abnormality of the face	9569	GTF2IRD1	ORPHA:904
HP:0000271	Abnormality of the face	155382	VPS37D	ORPHA:904
HP:0000271	Abnormality of the face	155368	METTL27	ORPHA:904
HP:0000271	Abnormality of the face	114049	BUD23	ORPHA:904
HP:0000271	Abnormality of the face	7458	EIF4H	ORPHA:904
HP:0000271	Abnormality of the face	84163	GTF2IRD2	ORPHA:904
HP:0000271	Abnormality of the face	9275	BCL7B	ORPHA:904
HP:0000271	Abnormality of the face	26608	TBL2	ORPHA:904
HP:0000271	Abnormality of the face	653361	NCF1	ORPHA:904
HP:0000271	Abnormality of the face	135886	TMEM270	ORPHA:904
HP:0000271	Abnormality of the face	51085	MLXIPL	ORPHA:904
HP:0000271	Abnormality of the face	9031	BAZ1B	ORPHA:904
HP:0000271	Abnormality of the face	2006	ELN	ORPHA:904
HP:0000271	Abnormality of the face	341208	HEPHL1	OMIM:261990
HP:0000271	Abnormality of the face	2193	FARSA	OMIM:619013
HP:0000271	Abnormality of the face	3643	INSR	OMIM:246200
HP:0000271	Abnormality of the face	2263	FGFR2	OMIM:123500
HP:0000271	Abnormality of the face	3590	IL11RA	OMIM:614188
HP:0000271	Abnormality of the face	2773	GNAI3	OMIM:602483
HP:0000271	Abnormality of the face	6850	SYK	OMIM:619381
HP:0000271	Abnormality of the face	1909	EDNRA	OMIM:616367
HP:0000271	Abnormality of the face	9451	EIF2AK3	OMIM:226980
HP:0000271	Abnormality of the face	51729	WBP11	OMIM:619227
HP:0000271	Abnormality of the face	6916	TBXAS1	ORPHA:1802
HP:0000271	Abnormality of the face	124590	USH1G	OMIM:606943
HP:0000271	Abnormality of the face	10992	SF3B2	OMIM:164210
HP:0000271	Abnormality of the face	60482	SLC5A7	ORPHA:98914
HP:0000271	Abnormality of the face	4649	MYO9A	ORPHA:98914
HP:0000271	Abnormality of the face	1305	COL13A1	ORPHA:98914
HP:0000271	Abnormality of the face	1103	CHAT	ORPHA:98914
HP:0000271	Abnormality of the face	6576	SLC25A1	ORPHA:98914
HP:0000271	Abnormality of the face	6843	VAMP1	ORPHA:98914
HP:0000271	Abnormality of the face	375790	AGRN	ORPHA:98914
HP:0000271	Abnormality of the face	127833	SYT2	ORPHA:98914
HP:0000271	Abnormality of the face	6572	SLC18A3	ORPHA:98914
HP:0000271	Abnormality of the face	6616	SNAP25	ORPHA:98914
HP:0000271	Abnormality of the face	1836	SLC26A2	ORPHA:56304
HP:0000271	Abnormality of the face	1763	DNA2	ORPHA:352470
HP:0000271	Abnormality of the face	1763	DNA2	OMIM:615156
HP:0000271	Abnormality of the face	63895	PIEZO2	OMIM:108145
HP:0000271	Abnormality of the face	5745	PTH1R	OMIM:156400
HP:0000271	Abnormality of the face	894	CCND2	ORPHA:83473
HP:0000271	Abnormality of the face	10000	AKT3	ORPHA:83473
HP:0000271	Abnormality of the face	5648	MASP1	ORPHA:293843
HP:0000271	Abnormality of the face	54796	BNC2	ORPHA:93110
HP:0000271	Abnormality of the face	4047	LSS	ORPHA:2850
HP:0000271	Abnormality of the face	197	AHSG	ORPHA:2850
HP:0000271	Abnormality of the face	137814	NKX2-6	ORPHA:3303
HP:0000271	Abnormality of the face	23414	ZFPM2	ORPHA:3303
HP:0000271	Abnormality of the face	3791	KDR	ORPHA:3303
HP:0000271	Abnormality of the face	2627	GATA6	ORPHA:3303
HP:0000271	Abnormality of the face	2657	GDF1	ORPHA:3303
HP:0000271	Abnormality of the face	140628	GATA5	ORPHA:3303
HP:0000271	Abnormality of the face	10370	CITED2	ORPHA:3303
HP:0000271	Abnormality of the face	5837	PYGM	ORPHA:368
HP:0000271	Abnormality of the face	4604	MYBPC1	OMIM:618524
HP:0000271	Abnormality of the face	201163	FLCN	OMIM:610883
HP:0000271	Abnormality of the face	50651	SLC45A1	OMIM:617532
HP:0000271	Abnormality of the face	116931	MED12L	OMIM:618872
HP:0000271	Abnormality of the face	27245	AHDC1	ORPHA:412069
HP:0000271	Abnormality of the face	27245	AHDC1	OMIM:615829
HP:0000271	Abnormality of the face	81794	ADAMTS10	OMIM:277600
HP:0000271	Abnormality of the face	50485	SMARCAL1	ORPHA:1830
HP:0000271	Abnormality of the face	50485	SMARCAL1	OMIM:242900
HP:0000271	Abnormality of the face	3373	HYAL1	OMIM:601492
HP:0000271	Abnormality of the face	23219	FBXO28	OMIM:619777
HP:0000271	Abnormality of the face	6473	SHOX	ORPHA:240
HP:0000271	Abnormality of the face	51013	EXOSC1	OMIM:619304
HP:0000271	Abnormality of the face	3736	KCNA1	ORPHA:1934
HP:0000271	Abnormality of the face	2775	GNAO1	ORPHA:1934
HP:0000271	Abnormality of the face	81603	TRIM8	ORPHA:1934
HP:0000271	Abnormality of the face	79751	SLC25A22	ORPHA:1934
HP:0000271	Abnormality of the face	150094	SIK1	ORPHA:1934
HP:0000271	Abnormality of the face	2917	GRM7	ORPHA:1934
HP:0000271	Abnormality of the face	11284	PNKP	ORPHA:1934
HP:0000271	Abnormality of the face	6326	SCN2A	ORPHA:1934
HP:0000271	Abnormality of the face	51227	PIGP	ORPHA:1934
HP:0000271	Abnormality of the face	6324	SCN1B	ORPHA:1934
HP:0000271	Abnormality of the face	4761	NEUROD2	ORPHA:1934
HP:0000271	Abnormality of the face	2879	GPX4	OMIM:250220
HP:0000271	Abnormality of the face	84634	KISS1R	ORPHA:432
HP:0000271	Abnormality of the face	6866	TAC3	ORPHA:432
HP:0000271	Abnormality of the face	3814	KISS1	ORPHA:432
HP:0000271	Abnormality of the face	6045	RNF2	OMIM:619460
HP:0000271	Abnormality of the face	29968	PSAT1	ORPHA:284417
HP:0000271	Abnormality of the face	80173	IFT74	OMIM:619582
HP:0000271	Abnormality of the face	4927	NUP88	ORPHA:994
HP:0000271	Abnormality of the face	7846	TUBA1A	ORPHA:994
HP:0000271	Abnormality of the face	348180	CTU2	OMIM:618142
HP:0000271	Abnormality of the face	2571	GAD1	OMIM:619124
HP:0000271	Abnormality of the face	84081	NSRP1	OMIM:620001
HP:0000271	Abnormality of the face	2801	GOLGA2	OMIM:620240
HP:0000271	Abnormality of the face	6499	SKIC2	OMIM:614602
HP:0000271	Abnormality of the face	4524	MTHFR	ORPHA:563612
HP:0000271	Abnormality of the face	57216	VANGL2	ORPHA:563612
HP:0000271	Abnormality of the face	124512	METTL23	OMIM:615942
HP:0000271	Abnormality of the face	10236	HNRNPR	OMIM:620073
HP:0000271	Abnormality of the face	3911	LAMA5	OMIM:620076
HP:0000271	Abnormality of the face	6509	SLC1A4	ORPHA:447997
HP:0000271	Abnormality of the face	79644	SRD5A3	OMIM:612379
HP:0000271	Abnormality of the face	134701	RIPPLY2	ORPHA:2311
HP:0000271	Abnormality of the face	10683	DLL3	ORPHA:2311
HP:0000271	Abnormality of the face	3955	LFNG	ORPHA:2311
HP:0000271	Abnormality of the face	84667	HES7	ORPHA:2311
HP:0000271	Abnormality of the face	145873	MESP2	ORPHA:2311
HP:0000271	Abnormality of the face	57211	ADGRG6	OMIM:616503
HP:0000271	Abnormality of the face	4190	MDH1	OMIM:618959
HP:0000271	Abnormality of the face	2108	ETFA	OMIM:231680
HP:0000271	Abnormality of the face	2109	ETFB	OMIM:231680
HP:0000271	Abnormality of the face	2110	ETFDH	OMIM:231680
HP:0000271	Abnormality of the face	1371	CPOX	ORPHA:79273
HP:0000271	Abnormality of the face	10015	PDCD6IP	OMIM:620047
HP:0000271	Abnormality of the face	3119	HLA-DQB1	OMIM:123400
HP:0000271	Abnormality of the face	5376	PMP22	ORPHA:98916
HP:0000271	Abnormality of the face	1785	DNM2	OMIM:160150
HP:0000271	Abnormality of the face	64419	MTMR14	OMIM:160150
HP:0000271	Abnormality of the face	126695	KDF1	OMIM:617337
HP:0000271	Abnormality of the face	5361	PLXNA1	OMIM:619955
HP:0000271	Abnormality of the face	79971	WLS	OMIM:619648
HP:0000271	Abnormality of the face	112802	KRT71	ORPHA:170
HP:0000271	Abnormality of the face	200879	LIPH	ORPHA:170
HP:0000271	Abnormality of the face	10161	LPAR6	ORPHA:170
HP:0000271	Abnormality of the face	147183	KRT25	ORPHA:170
HP:0000271	Abnormality of the face	92255	LMBRD2	OMIM:619694
HP:0000271	Abnormality of the face	10265	IRX5	OMIM:611174
HP:0000271	Abnormality of the face	6926	TBX3	OMIM:181450
HP:0000271	Abnormality of the face	10524	KAT5	OMIM:619103
HP:0000271	Abnormality of the face	60495	HPSE2	OMIM:236730
HP:0000271	Abnormality of the face	2645	GCK	ORPHA:99885
HP:0000271	Abnormality of the face	3651	PDX1	ORPHA:99885
HP:0000271	Abnormality of the face	3630	INS	ORPHA:99885
HP:0000271	Abnormality of the face	401138	AMTN	OMIM:617607
HP:0000271	Abnormality of the face	152816	ODAPH	OMIM:614832
HP:0000271	Abnormality of the face	80320	SP6	OMIM:620104
HP:0000271	Abnormality of the face	3149	HMGB3	OMIM:300915
HP:0000271	Abnormality of the face	284654	RSPO1	OMIM:610644
HP:0000271	Abnormality of the face	7700	ZNF141	OMIM:615226
HP:0000271	Abnormality of the face	27247	NFU1	OMIM:605711
HP:0000271	Abnormality of the face	1282	COL4A1	OMIM:175780
HP:0000271	Abnormality of the face	112476	PRRT2	ORPHA:569
HP:0000271	Abnormality of the face	977	CD151	OMIM:609057
HP:0000271	Abnormality of the face	8626	TP63	ORPHA:69085
HP:0000271	Abnormality of the face	84520	GON7	OMIM:619603
HP:0000271	Abnormality of the face	2255	FGF10	OMIM:620193
HP:0000271	Abnormality of the face	2255	FGF10	ORPHA:2363
HP:0000271	Abnormality of the face	2261	FGFR3	OMIM:620192
HP:0000271	Abnormality of the face	2261	FGFR3	ORPHA:2363
HP:0000271	Abnormality of the face	341640	FREM2	ORPHA:2052
HP:0000271	Abnormality of the face	80144	FRAS1	ORPHA:2052
HP:0000271	Abnormality of the face	80144	FRAS1	OMIM:219000
HP:0000271	Abnormality of the face	23426	GRIP1	ORPHA:2052
HP:0000271	Abnormality of the face	8295	TRRAP	OMIM:618454
HP:0000271	Abnormality of the face	2138	EYA1	OMIM:113650
HP:0000271	Abnormality of the face	6495	SIX1	OMIM:113650
HP:0000271	Abnormality of the face	387	RHOA	OMIM:618727
HP:0000271	Abnormality of the face	79718	TBL1XR1	OMIM:602342
HP:0000271	Abnormality of the face	84570	COL25A1	ORPHA:91411
HP:0000271	Abnormality of the face	79776	ZFHX4	ORPHA:91411
HP:0000271	Abnormality of the face	1890	TYMP	ORPHA:298
HP:0000271	Abnormality of the face	3980	LIG3	ORPHA:298
HP:0000271	Abnormality of the face	84823	LMNB2	OMIM:608709
HP:0000271	Abnormality of the face	2972	BRF1	ORPHA:444072
HP:0000271	Abnormality of the face	6638	SNRPN	ORPHA:177907
HP:0000271	Abnormality of the face	8241	RBM10	ORPHA:2886
HP:0000271	Abnormality of the face	9775	EIF4A3	OMIM:268305
HP:0000271	Abnormality of the face	5307	PITX1	OMIM:119800
HP:0000271	Abnormality of the face	81788	NUAK2	OMIM:619452
HP:0000271	Abnormality of the face	529	ATP6V1E1	OMIM:617402
HP:0000271	Abnormality of the face	22858	CILK1	OMIM:612651
HP:0000271	Abnormality of the face	8111	GPR68	OMIM:617217
HP:0000271	Abnormality of the face	7428	VHL	ORPHA:892
HP:0000271	Abnormality of the face	7428	VHL	ORPHA:29072
HP:0000271	Abnormality of the face	7428	VHL	OMIM:193300
HP:0000271	Abnormality of the face	595	CCND1	ORPHA:892
HP:0000271	Abnormality of the face	595	CCND1	OMIM:193300
HP:0000271	Abnormality of the face	1743	DLST	ORPHA:29072
HP:0000271	Abnormality of the face	4191	MDH2	ORPHA:29072
HP:0000271	Abnormality of the face	6389	SDHA	ORPHA:29072
HP:0000271	Abnormality of the face	23095	KIF1B	ORPHA:29072
HP:0000271	Abnormality of the face	8402	SLC25A11	ORPHA:29072
HP:0000271	Abnormality of the face	54949	SDHAF2	ORPHA:29072
HP:0000271	Abnormality of the face	55654	TMEM127	ORPHA:29072
HP:0000271	Abnormality of the face	4149	MAX	ORPHA:29072
HP:0000271	Abnormality of the face	4292	MLH1	OMIM:158320
HP:0000271	Abnormality of the face	4292	MLH1	ORPHA:587
HP:0000271	Abnormality of the face	4436	MSH2	OMIM:158320
HP:0000271	Abnormality of the face	4436	MSH2	ORPHA:587
HP:0000271	Abnormality of the face	7249	TSC2	OMIM:613254
HP:0000271	Abnormality of the face	3458	IFNG	OMIM:613254
HP:0000271	Abnormality of the face	7248	TSC1	OMIM:191100
HP:0000271	Abnormality of the face	258	AMBN	OMIM:616270
HP:0000271	Abnormality of the face	3914	LAMB3	OMIM:104530
HP:0000271	Abnormality of the face	1308	COL17A1	OMIM:619787
HP:0000271	Abnormality of the face	1308	COL17A1	ORPHA:251393
HP:0000271	Abnormality of the face	3691	ITGB4	ORPHA:251393
HP:0000271	Abnormality of the face	3694	ITGB6	OMIM:616221
HP:0000271	Abnormality of the face	2956	MSH6	OMIM:619097
HP:0000271	Abnormality of the face	2303	FOXC2	OMIM:153400
HP:0000271	Abnormality of the face	2303	FOXC2	ORPHA:33001
HP:0000271	Abnormality of the face	57479	PRR12	OMIM:619539
HP:0000271	Abnormality of the face	30062	RAX	OMIM:611038
HP:0000271	Abnormality of the face	6650	CAPN15	OMIM:619318
HP:0000271	Abnormality of the face	1804	DPP6	ORPHA:2514
HP:0000271	Abnormality of the face	90993	CREB3L1	OMIM:616229
HP:0000271	Abnormality of the face	1802	DPH2	OMIM:620062
HP:0000271	Abnormality of the face	104	ADARB1	OMIM:618862
HP:0000271	Abnormality of the face	29926	GMPPA	OMIM:615510
HP:0000271	Abnormality of the face	54361	WNT4	ORPHA:247768
HP:0000271	Abnormality of the face	4654	MYOD1	OMIM:618975
HP:0000271	Abnormality of the face	5396	PRRX1	ORPHA:990
HP:0000271	Abnormality of the face	5015	OTX2	ORPHA:990
HP:0000271	Abnormality of the face	340419	RSPO2	ORPHA:3301
HP:0000271	Abnormality of the face	8812	CCNK	OMIM:618147
HP:0000271	Abnormality of the face	6491	STIL	ORPHA:220386
HP:0000271	Abnormality of the face	6491	STIL	ORPHA:93926
HP:0000271	Abnormality of the face	6491	STIL	ORPHA:93924
HP:0000271	Abnormality of the face	6491	STIL	ORPHA:93925
HP:0000271	Abnormality of the face	7473	WNT3	OMIM:273395
HP:0000271	Abnormality of the face	165	AEBP1	ORPHA:536532
HP:0000271	Abnormality of the face	5371	PML	ORPHA:520
HP:0000271	Abnormality of the face	5914	RARA	ORPHA:520
HP:0000271	Abnormality of the face	359948	IRF2BP2	ORPHA:520
HP:0000271	Abnormality of the face	81608	FIP1L1	ORPHA:520
HP:0000271	Abnormality of the face	64859	NABP1	ORPHA:520
HP:0000271	Abnormality of the face	6777	STAT5B	ORPHA:520
HP:0000271	Abnormality of the face	4926	NUMA1	ORPHA:520
HP:0000271	Abnormality of the face	7704	ZBTB16	ORPHA:520
HP:0000271	Abnormality of the face	2642	GCGR	ORPHA:438274
HP:0000271	Abnormality of the face	3702	ITK	OMIM:613011
HP:0000271	Abnormality of the face	84876	ORAI1	OMIM:612782
HP:0000271	Abnormality of the face	399	RHOH	OMIM:618307
HP:0000271	Abnormality of the face	10379	IRF9	OMIM:618648
HP:0000271	Abnormality of the face	3557	IL1RN	OMIM:612852
HP:0000271	Abnormality of the face	3117	HLA-DQA1	OMIM:212750
HP:0000271	Abnormality of the face	959	CD40LG	OMIM:308230
HP:0000271	Abnormality of the face	84196	USP48	ORPHA:96253
HP:0000271	Abnormality of the face	7157	TP53	ORPHA:96253
HP:0000271	Abnormality of the face	9101	USP8	ORPHA:96253
HP:0000271	Abnormality of the face	64072	CDH23	ORPHA:96253
HP:0000271	Abnormality of the face	2908	NR3C1	ORPHA:96253
HP:0000271	Abnormality of the face	215	ABCD1	ORPHA:139399
HP:0000271	Abnormality of the face	4967	OGDH	ORPHA:31
HP:0000271	Abnormality of the face	567	B2M	ORPHA:314652
HP:0000271	Abnormality of the face	9894	TELO2	ORPHA:488642
HP:0000271	Abnormality of the face	63901	FAM111A	OMIM:602361
HP:0000271	Abnormality of the face	80326	WNT10A	OMIM:257980
HP:0000271	Abnormality of the face	265	AMELX	OMIM:301200
HP:0000271	Abnormality of the face	93650	ACP4	OMIM:617297
HP:0000271	Abnormality of the face	81887	LAS1L	ORPHA:3459
HP:0000271	Abnormality of the face	9150	CTDP1	OMIM:604168
HP:0000271	Abnormality of the face	9150	CTDP1	ORPHA:48431
HP:0000271	Abnormality of the face	286053	NSMCE2	ORPHA:436182
HP:0000271	Abnormality of the face	1291	COL6A1	OMIM:254090
HP:0000271	Abnormality of the face	1292	COL6A2	OMIM:254090
HP:0000271	Abnormality of the face	1292	COL6A2	OMIM:255600
HP:0000271	Abnormality of the face	1293	COL6A3	OMIM:254090
HP:0000271	Abnormality of the face	825	CAPN3	OMIM:253600
HP:0000271	Abnormality of the face	79581	SLC52A2	OMIM:614707
HP:0000271	Abnormality of the face	10049	DNAJB6	OMIM:603511
HP:0000271	Abnormality of the face	1120	CHKB	OMIM:602541
HP:0000271	Abnormality of the face	9790	BMS1	ORPHA:1114
HP:0000271	Abnormality of the face	10054	UBA2	ORPHA:1114
HP:0000271	Abnormality of the face	54567	DLL4	ORPHA:1114
HP:0000271	Abnormality of the face	84466	MEGF10	OMIM:614399
HP:0000271	Abnormality of the face	1798	DPAGT1	ORPHA:353327
HP:0000271	Abnormality of the face	427	ASAH1	OMIM:159950
HP:0000271	Abnormality of the face	8878	SQSTM1	OMIM:617158
HP:0000271	Abnormality of the face	9531	BAG3	OMIM:612954
HP:0000271	Abnormality of the face	84617	TUBB6	OMIM:617732
HP:0000271	Abnormality of the face	80704	SLC19A3	OMIM:607483
HP:0000271	Abnormality of the face	147912	SIX5	ORPHA:107
HP:0000271	Abnormality of the face	8898	MTMR2	OMIM:601382
HP:0000271	Abnormality of the face	2934	GSN	ORPHA:85448
HP:0000271	Abnormality of the face	8292	COLQ	ORPHA:98915
HP:0000271	Abnormality of the face	3913	LAMB2	ORPHA:98915
HP:0000271	Abnormality of the face	6444	SGCD	ORPHA:219
HP:0000271	Abnormality of the face	339855	KY	OMIM:617114
HP:0000271	Abnormality of the face	64127	NOD2	ORPHA:90340
HP:0000271	Abnormality of the face	8139	GAN	ORPHA:643
HP:0000271	Abnormality of the face	8139	GAN	OMIM:256850
HP:0000271	Abnormality of the face	28962	OSTM1	OMIM:259720
HP:0000271	Abnormality of the face	203859	ANO5	OMIM:611307
HP:0000271	Abnormality of the face	203859	ANO5	ORPHA:206549
HP:0000271	Abnormality of the face	59341	TRPV4	OMIM:181405
HP:0000271	Abnormality of the face	11146	GLMN	ORPHA:83454
HP:0000271	Abnormality of the face	54840	APTX	ORPHA:1168
HP:0000271	Abnormality of the face	129685	TAF8	OMIM:619972
HP:0000271	Abnormality of the face	2898	GRIK2	OMIM:619580
HP:0000271	Abnormality of the face	1499	CTNNB1	ORPHA:54595
HP:0000271	Abnormality of the face	84957	RELT	OMIM:618386
HP:0000271	Abnormality of the face	256764	WDR72	OMIM:613211
HP:0000271	Abnormality of the face	356	FASLG	ORPHA:3261
HP:0000271	Abnormality of the face	843	CASP10	ORPHA:3261
HP:0000271	Abnormality of the face	10125	RASGRP1	ORPHA:3261
HP:0000271	Abnormality of the face	1053	CEBPE	OMIM:260570
HP:0000271	Abnormality of the face	6097	RORC	OMIM:616622
HP:0000271	Abnormality of the face	84818	IL17RC	OMIM:616445
HP:0000271	Abnormality of the face	51311	TLR8	OMIM:301078
HP:0000271	Abnormality of the face	9948	WDR1	OMIM:150550
HP:0000271	Abnormality of the face	3569	IL6	OMIM:266600
HP:0000271	Abnormality of the face	148022	TICAM1	OMIM:614850
HP:0000271	Abnormality of the face	91662	NLRP12	OMIM:611762
HP:0000271	Abnormality of the face	149233	IL23R	ORPHA:117
HP:0000271	Abnormality of the face	6775	STAT4	ORPHA:117
HP:0000271	Abnormality of the face	3586	IL10	ORPHA:117
HP:0000271	Abnormality of the face	1230	CCR1	ORPHA:117
HP:0000271	Abnormality of the face	3592	IL12A	ORPHA:117
HP:0000271	Abnormality of the face	101928376	IL12A-AS1	ORPHA:117
HP:0000271	Abnormality of the face	7099	TLR4	ORPHA:117
HP:0000271	Abnormality of the face	3459	IFNGR1	ORPHA:117
HP:0000271	Abnormality of the face	720	C4A	ORPHA:117
HP:0000271	Abnormality of the face	337867	UBAC2	ORPHA:117
HP:0000271	Abnormality of the face	51752	ERAP1	ORPHA:117
HP:0000271	Abnormality of the face	8302	KLRC4	ORPHA:117
HP:0000271	Abnormality of the face	30011	SH3KBP1	OMIM:300310
HP:0000271	Abnormality of the face	695	BTK	OMIM:300755
HP:0000271	Abnormality of the face	930	CD19	OMIM:613493
HP:0000271	Abnormality of the face	930	CD19	OMIM:240500
HP:0000271	Abnormality of the face	115650	TNFRSF13C	OMIM:613494
HP:0000271	Abnormality of the face	115650	TNFRSF13C	OMIM:240500
HP:0000271	Abnormality of the face	5580	PRKCD	OMIM:615559
HP:0000271	Abnormality of the face	5880	RAC2	OMIM:618986
HP:0000271	Abnormality of the face	987	LRBA	OMIM:614700
HP:0000271	Abnormality of the face	3426	CFI	OMIM:610984
HP:0000271	Abnormality of the face	6813	STXBP2	OMIM:613101
HP:0000271	Abnormality of the face	4790	NFKB1	OMIM:616576
HP:0000271	Abnormality of the face	8382	NME5	OMIM:620032
HP:0000271	Abnormality of the face	29851	ICOS	OMIM:607594
HP:0000271	Abnormality of the face	29851	ICOS	OMIM:240500
HP:0000271	Abnormality of the face	23495	TNFRSF13B	OMIM:240500
HP:0000271	Abnormality of the face	1380	CR2	OMIM:240500
HP:0000271	Abnormality of the face	84061	MAGT1	OMIM:300853
HP:0000271	Abnormality of the face	10625	IVNS1ABP	OMIM:618969
HP:0000271	Abnormality of the face	4194	MDM4	OMIM:618849
HP:0000271	Abnormality of the face	3551	IKBKB	OMIM:618204
HP:0000271	Abnormality of the face	23765	IL17RA	OMIM:613953
HP:0000271	Abnormality of the face	81704	DOCK8	OMIM:243700
HP:0000271	Abnormality of the face	81704	DOCK8	ORPHA:217390
HP:0000271	Abnormality of the face	721	C4B	OMIM:614379
HP:0000271	Abnormality of the face	6688	SPI1	OMIM:619707
HP:0000271	Abnormality of the face	165918	RNF168	ORPHA:420741
HP:0000271	Abnormality of the face	3559	IL2RA	OMIM:606367
HP:0000271	Abnormality of the face	5649	RELN	OMIM:600512
HP:0000271	Abnormality of the face	64780	MICAL1	OMIM:600512
HP:0000271	Abnormality of the face	9211	LGI1	OMIM:600512
HP:0000271	Abnormality of the face	8720	MBTPS1	OMIM:618392
HP:0000271	Abnormality of the face	1024	CDK8	OMIM:618748
HP:0000271	Abnormality of the face	8496	PPFIBP1	OMIM:620024
HP:0000271	Abnormality of the face	8604	SLC25A12	OMIM:612949
HP:0000271	Abnormality of the face	6748	SSR4	ORPHA:370927
HP:0000271	Abnormality of the face	87178	PNPT1	OMIM:608703
HP:0000271	Abnormality of the face	87178	PNPT1	ORPHA:101111
HP:0000271	Abnormality of the face	3785	KCNQ2	ORPHA:1949
HP:0000271	Abnormality of the face	7276	TTR	OMIM:105210
HP:0000271	Abnormality of the face	28981	IFT81	OMIM:617895
HP:0000271	Abnormality of the face	1355	COX15	OMIM:615119
HP:0000271	Abnormality of the face	283120	H19	ORPHA:231144
HP:0000271	Abnormality of the face	8443	GNPAT	OMIM:222765
HP:0000271	Abnormality of the face	816	CAMK2B	OMIM:617799
HP:0000271	Abnormality of the face	23184	MESD	OMIM:618644
HP:0000271	Abnormality of the face	283989	TSEN54	ORPHA:166063
HP:0000271	Abnormality of the face	26057	ANKRD17	OMIM:619504
HP:0000271	Abnormality of the face	2615	LRRC32	OMIM:619074
HP:0000271	Abnormality of the face	5311	PKD2	OMIM:613095
HP:0000271	Abnormality of the face	85301	COL27A1	OMIM:615155
HP:0000271	Abnormality of the face	5700	PSMC1	OMIM:620071
HP:0000271	Abnormality of the face	58508	KMT2C	ORPHA:261652
HP:0000271	Abnormality of the face	58508	KMT2C	OMIM:617768
HP:0000271	Abnormality of the face	4285	MIPEP	OMIM:617228
HP:0000271	Abnormality of the face	5354	PLP1	ORPHA:280229
HP:0000271	Abnormality of the face	51651	PTRH2	OMIM:616263
HP:0000271	Abnormality of the face	56160	NSMCE3	OMIM:617241
HP:0000271	Abnormality of the face	3658	IREB2	OMIM:618451
HP:0000271	Abnormality of the face	5308	PITX2	ORPHA:782
HP:0000271	Abnormality of the face	998	CDC42	OMIM:616737
HP:0000271	Abnormality of the face	998	CDC42	ORPHA:487796
HP:0000271	Abnormality of the face	23097	CDK19	OMIM:618916
HP:0000271	Abnormality of the face	10940	POP1	OMIM:617396
HP:0000271	Abnormality of the face	63931	MRPS14	OMIM:618378
HP:0000271	Abnormality of the face	5718	PSMD12	ORPHA:529962
HP:0000271	Abnormality of the face	6304	SATB1	OMIM:619229
HP:0000271	Abnormality of the face	55180	LINS1	OMIM:614340
HP:0000271	Abnormality of the face	8936	WASF1	OMIM:618707
HP:0000271	Abnormality of the face	2893	GRIA4	OMIM:617864
HP:0000271	Abnormality of the face	8815	BANF1	OMIM:614008
HP:0000271	Abnormality of the face	22800	RRAS2	ORPHA:648
HP:0000271	Abnormality of the face	6237	RRAS	ORPHA:648
HP:0000271	Abnormality of the face	6655	SOS2	ORPHA:648
HP:0000271	Abnormality of the face	5922	RASA2	ORPHA:648
HP:0000271	Abnormality of the face	23299	BICD2	OMIM:618291
HP:0000271	Abnormality of the face	10844	TUBGCP2	OMIM:618737
HP:0000271	Abnormality of the face	25871	NEPRO	OMIM:618853
HP:0000271	Abnormality of the face	56244	BTNL2	ORPHA:797
HP:0000271	Abnormality of the face	3123	HLA-DRB1	ORPHA:797
HP:0000271	Abnormality of the face	488	ATP2A2	OMIM:124200
HP:0000271	Abnormality of the face	26005	C2CD3	ORPHA:434179
HP:0000271	Abnormality of the face	26005	C2CD3	OMIM:615948
HP:0000271	Abnormality of the face	51057	WDPCP	OMIM:217085
HP:0000271	Abnormality of the face	51057	WDPCP	ORPHA:1338
HP:0000271	Abnormality of the face	7314	UBB	ORPHA:99771
HP:0000271	Abnormality of the face	57822	GRHL3	ORPHA:99771
HP:0000271	Abnormality of the face	246329	STAC3	ORPHA:168572
HP:0000271	Abnormality of the face	4750	NEK1	ORPHA:2751
HP:0000271	Abnormality of the face	6288	SAA1	ORPHA:85445
HP:0000271	Abnormality of the face	5083	PAX9	OMIM:604625
HP:0000271	Abnormality of the face	55605	KIF21A	OMIM:135700
HP:0000271	Abnormality of the face	4148	MATN3	ORPHA:156728
HP:0000271	Abnormality of the face	4148	MATN3	OMIM:608728
HP:0000271	Abnormality of the face	64116	SLC39A8	ORPHA:468699
HP:0000271	Abnormality of the face	54084	TSPEAR	OMIM:618180
HP:0000271	Abnormality of the face	56896	DPYSL5	OMIM:619435
HP:0000271	Abnormality of the face	8473	OGT	OMIM:300997
HP:0000271	Abnormality of the face	26128	KIFBP	OMIM:609460
HP:0000271	Abnormality of the face	53616	ADAM22	OMIM:617933
HP:0000271	Abnormality of the face	7965	AIMP2	OMIM:618006
HP:0000271	Abnormality of the face	81620	CDT1	ORPHA:2554
HP:0000271	Abnormality of the face	5000	ORC4	ORPHA:2554
HP:0000271	Abnormality of the face	23594	ORC6	ORPHA:2554
HP:0000271	Abnormality of the face	23594	ORC6	OMIM:613803
HP:0000271	Abnormality of the face	8318	CDC45	ORPHA:2554
HP:0000271	Abnormality of the face	990	CDC6	ORPHA:2554
HP:0000271	Abnormality of the face	990	CDC6	OMIM:613805
HP:0000271	Abnormality of the face	22872	SEC31A	OMIM:618651
HP:0000271	Abnormality of the face	4174	MCM5	OMIM:617564
HP:0000271	Abnormality of the face	2890	GRIA1	OMIM:619927
HP:0000271	Abnormality of the face	8911	CACNA1I	OMIM:620114
HP:0000271	Abnormality of the face	2273	FHL1	OMIM:300280
HP:0000271	Abnormality of the face	55367	PIDD1	OMIM:619827
HP:0000271	Abnormality of the face	7189	TRAF6	ORPHA:1810
HP:0000271	Abnormality of the face	51099	ABHD5	ORPHA:98907
HP:0000271	Abnormality of the face	59344	ALOXE3	OMIM:606545
HP:0000271	Abnormality of the face	204219	CERS3	OMIM:615023
HP:0000271	Abnormality of the face	26154	ABCA12	ORPHA:457
HP:0000271	Abnormality of the face	4040	LRP6	ORPHA:99798
HP:0000271	Abnormality of the face	7039	TGFA	ORPHA:99798
HP:0000271	Abnormality of the face	7051	TGM1	ORPHA:100976
HP:0000271	Abnormality of the face	9427	ECEL1	OMIM:615065
HP:0000271	Abnormality of the face	3508	IGHMBP2	OMIM:616155
HP:0000271	Abnormality of the face	10528	NOP56	OMIM:614153
HP:0000271	Abnormality of the face	10528	NOP56	ORPHA:276198
HP:0000271	Abnormality of the face	22880	MORC2	ORPHA:466768
HP:0000271	Abnormality of the face	10133	OPTN	OMIM:613435
HP:0000271	Abnormality of the face	51010	EXOSC3	OMIM:614678
HP:0000271	Abnormality of the face	3516	RBPJ	OMIM:614814
HP:0000271	Abnormality of the face	23404	EXOSC2	OMIM:617763
HP:0000271	Abnormality of the face	23040	MYT1L	OMIM:616521
HP:0000271	Abnormality of the face	29081	METTL5	OMIM:618665
HP:0000271	Abnormality of the face	999	CDH1	OMIM:119580
HP:0000271	Abnormality of the face	999	CDH1	ORPHA:1997
HP:0000271	Abnormality of the face	1500	CTNND1	OMIM:617681
HP:0000271	Abnormality of the face	1500	CTNND1	ORPHA:1997
HP:0000271	Abnormality of the face	1528	CYB5A	ORPHA:621
HP:0000271	Abnormality of the face	1727	CYB5R3	ORPHA:621
HP:0000271	Abnormality of the face	8792	TNFRSF11A	OMIM:174810
HP:0000271	Abnormality of the face	55770	EXOC2	OMIM:619306
HP:0000271	Abnormality of the face	6711	SPTBN1	OMIM:619475
HP:0000271	Abnormality of the face	668	FOXL2	ORPHA:572333
HP:0000271	Abnormality of the face	1180	CLCN1	OMIM:160800
HP:0000271	Abnormality of the face	1180	CLCN1	OMIM:255700
HP:0000271	Abnormality of the face	55679	LIMS2	OMIM:616827
HP:0000271	Abnormality of the face	8029	CUBN	ORPHA:35858
HP:0000271	Abnormality of the face	81693	AMN	ORPHA:35858
HP:0000271	Abnormality of the face	1825	DSC3	OMIM:613102
HP:0000271	Abnormality of the face	3872	KRT17	OMIM:167210
HP:0000271	Abnormality of the face	3872	KRT17	ORPHA:2309
HP:0000271	Abnormality of the face	831	CAST	OMIM:616295
HP:0000271	Abnormality of the face	3868	KRT16	ORPHA:2309
HP:0000271	Abnormality of the face	3853	KRT6A	ORPHA:2309
HP:0000271	Abnormality of the face	3854	KRT6B	ORPHA:2309
HP:0000271	Abnormality of the face	6720	SREBF1	OMIM:619016
HP:0000271	Abnormality of the face	4534	MTM1	ORPHA:596
HP:0000271	Abnormality of the face	57190	SELENON	ORPHA:324604
HP:0000271	Abnormality of the face	57190	SELENON	ORPHA:2020
HP:0000271	Abnormality of the face	4625	MYH7	ORPHA:324604
HP:0000271	Abnormality of the face	7273	TTN	ORPHA:324604
HP:0000271	Abnormality of the face	7273	TTN	OMIM:611705
HP:0000271	Abnormality of the face	353116	RILPL1	OMIM:619790
HP:0000271	Abnormality of the face	55906	ZC4H2	OMIM:301041
HP:0000271	Abnormality of the face	55791	LRIF1	OMIM:619477
HP:0000271	Abnormality of the face	10755	GIPC1	OMIM:618940
HP:0000271	Abnormality of the face	10755	GIPC1	ORPHA:98897
HP:0000271	Abnormality of the face	4574	MT-TS1	OMIM:220110
HP:0000271	Abnormality of the face	4570	MT-TN	OMIM:220110
HP:0000271	Abnormality of the face	6834	SURF1	OMIM:220110
HP:0000271	Abnormality of the face	100996717	NOTCH2NLC	OMIM:619473
HP:0000271	Abnormality of the face	100996717	NOTCH2NLC	ORPHA:98897
HP:0000271	Abnormality of the face	35	ACADS	OMIM:201470
HP:0000271	Abnormality of the face	50484	RRM2B	ORPHA:329336
HP:0000271	Abnormality of the face	246243	RNASEH1	ORPHA:329336
HP:0000271	Abnormality of the face	1145	CHRNE	OMIM:616324
HP:0000271	Abnormality of the face	57863	CADM3	OMIM:619519
HP:0000271	Abnormality of the face	2318	FLNC	ORPHA:63273
HP:0000271	Abnormality of the face	400916	CHCHD10	ORPHA:457050
HP:0000271	Abnormality of the face	10290	SPEG	OMIM:615959
HP:0000271	Abnormality of the face	9289	ADGRG1	ORPHA:98889
HP:0000271	Abnormality of the face	27286	SRPX2	ORPHA:98889
HP:0000271	Abnormality of the face	4703	NEB	OMIM:256030
HP:0000271	Abnormality of the face	4703	NEB	ORPHA:399103
HP:0000271	Abnormality of the face	92667	MGME1	ORPHA:352447
HP:0000271	Abnormality of the face	1303	COL12A1	ORPHA:536516
HP:0000271	Abnormality of the face	7555	CNBP	OMIM:602668
HP:0000271	Abnormality of the face	3714	JAG2	OMIM:619566
HP:0000271	Abnormality of the face	101060691	NUTM2B-AS1	OMIM:618637
HP:0000271	Abnormality of the face	9200	HACD1	OMIM:619967
HP:0000271	Abnormality of the face	9200	HACD1	ORPHA:2020
HP:0000271	Abnormality of the face	7125	TNNC2	OMIM:620161
HP:0000271	Abnormality of the face	10059	DNM1L	ORPHA:98673
HP:0000271	Abnormality of the face	4976	OPA1	ORPHA:98673
HP:0000271	Abnormality of the face	122622	ADSS1	OMIM:617030
HP:0000271	Abnormality of the face	122622	ADSS1	ORPHA:482601
HP:0000271	Abnormality of the face	1621	DBH	OMIM:223360
HP:0000271	Abnormality of the face	64207	IRF2BPL	OMIM:618088
HP:0000271	Abnormality of the face	23345	SYNE1	OMIM:618484
HP:0000271	Abnormality of the face	1674	DES	ORPHA:98909
HP:0000271	Abnormality of the face	1674	DES	OMIM:181400
HP:0000271	Abnormality of the face	311	ANXA11	OMIM:619733
HP:0000271	Abnormality of the face	1073	CFL2	OMIM:610687
HP:0000271	Abnormality of the face	81846	SBF2	ORPHA:99956
HP:0000271	Abnormality of the face	4556	MT-TE	ORPHA:2596
HP:0000271	Abnormality of the face	1339	COX6A2	OMIM:619062
HP:0000271	Abnormality of the face	56652	TWNK	OMIM:607459
HP:0000271	Abnormality of the face	4633	MYL2	ORPHA:2020
HP:0000271	Abnormality of the face	3679	ITGA7	ORPHA:2020
HP:0000271	Abnormality of the face	7169	TPM2	ORPHA:2020
HP:0000271	Abnormality of the face	7170	TPM3	ORPHA:2020
HP:0000271	Abnormality of the face	51776	MAP3K20	ORPHA:2020
HP:0000271	Abnormality of the face	11277	TREX1	ORPHA:247691
HP:0000271	Abnormality of the face	88	ACTN2	OMIM:618654
HP:0000271	Abnormality of the face	54332	GDAP1	ORPHA:99948
HP:0000271	Abnormality of the face	79628	SH3TC2	ORPHA:99949
HP:0000271	Abnormality of the face	4632	MYL1	OMIM:618414
HP:0000271	Abnormality of the face	89874	SLC25A21	OMIM:618811
HP:0000271	Abnormality of the face	79731	NARS2	OMIM:616239
HP:0000271	Abnormality of the face	284439	SLC25A42	OMIM:618416
HP:0000271	Abnormality of the face	55154	MSTO1	ORPHA:502423
HP:0000271	Abnormality of the face	4747	NEFL	ORPHA:101085
HP:0000271	Abnormality of the face	285489	DOK7	OMIM:254300
HP:0000271	Abnormality of the face	3321	IGSF3	OMIM:149700
HP:0000271	Abnormality of the face	23137	SMC5	OMIM:620185
HP:0000271	Abnormality of the face	7390	UROS	OMIM:263700
HP:0000271	Abnormality of the face	7390	UROS	ORPHA:79277
HP:0000271	Abnormality of the face	2623	GATA1	ORPHA:79277
HP:0000271	Abnormality of the face	7389	UROD	ORPHA:95159
HP:0000271	Abnormality of the face	4914	NTRK1	ORPHA:642
HP:0000271	Abnormality of the face	5251	PHEX	ORPHA:89936
HP:0000271	Abnormality of the face	8074	FGF23	ORPHA:89937
HP:0000271	Abnormality of the face	1758	DMP1	ORPHA:289176
HP:0000271	Abnormality of the face	5167	ENPP1	ORPHA:289176
HP:0000271	Abnormality of the face	1991	ELANE	ORPHA:2686
HP:0000271	Abnormality of the face	1747	DLX3	ORPHA:3352
HP:0000271	Abnormality of the face	28234	SLCO1B3	ORPHA:3111
HP:0000271	Abnormality of the face	10599	SLCO1B1	ORPHA:3111
HP:0000271	Abnormality of the face	59067	IL21	OMIM:615767
HP:0000271	Abnormality of the face	2214	FCGR3A	OMIM:615707
HP:0000271	Abnormality of the face	340061	STING1	OMIM:615934
HP:0000271	Abnormality of the face	9313	MMP20	OMIM:612529
HP:0000271	Abnormality of the face	7174	TPP2	OMIM:619220
HP:0000271	Abnormality of the face	51341	ZBTB7A	OMIM:619769
HP:0000271	Abnormality of the face	7512	XPNPEP2	ORPHA:100057
HP:0000271	Abnormality of the face	710	SERPING1	ORPHA:100050
HP:0000271	Abnormality of the face	5896	RAG1	OMIM:601457
HP:0000271	Abnormality of the face	5897	RAG2	OMIM:601457
HP:0000271	Abnormality of the face	55714	TENM3	OMIM:615145
HP:0000271	Abnormality of the face	23175	LPIN1	ORPHA:99845
HP:0000271	Abnormality of the face	4512	MT-CO1	ORPHA:99845
HP:0000271	Abnormality of the face	4514	MT-CO3	ORPHA:99845
HP:0000271	Abnormality of the face	7341	SUMO1	OMIM:613705
HP:0000271	Abnormality of the face	55969	RAB5IF	OMIM:616994
HP:0000271	Abnormality of the face	23149	FCHO1	OMIM:619164
HP:0000271	Abnormality of the face	51371	POMP	OMIM:618048
HP:0000271	Abnormality of the face	5692	PSMB4	OMIM:617591
HP:0000271	Abnormality of the face	5698	PSMB9	OMIM:617591
HP:0000271	Abnormality of the face	3115	HLA-DPB1	ORPHA:900
HP:0000271	Abnormality of the face	5657	PRTN3	ORPHA:900
HP:0000271	Abnormality of the face	3113	HLA-DPA1	ORPHA:900
HP:0000271	Abnormality of the face	4615	MYD88	ORPHA:33226
HP:0000271	Abnormality of the face	4868	NPHS1	ORPHA:656
HP:0000271	Abnormality of the face	23607	CD2AP	ORPHA:656
HP:0000271	Abnormality of the face	9688	NUP93	ORPHA:656
HP:0000271	Abnormality of the face	4643	MYO1E	ORPHA:656
HP:0000271	Abnormality of the face	64423	INF2	ORPHA:656
HP:0000271	Abnormality of the face	26130	GAPVD1	ORPHA:656
HP:0000271	Abnormality of the face	57122	NUP107	ORPHA:656
HP:0000271	Abnormality of the face	51479	ANKFY1	ORPHA:656
HP:0000271	Abnormality of the face	54443	ANLN	ORPHA:656
HP:0000271	Abnormality of the face	5800	PTPRO	ORPHA:656
HP:0000271	Abnormality of the face	286204	CRB2	ORPHA:656
HP:0000271	Abnormality of the face	23165	NUP205	ORPHA:656
HP:0000271	Abnormality of the face	2013	EMP2	ORPHA:656
HP:0000271	Abnormality of the face	79023	NUP37	ORPHA:656
HP:0000271	Abnormality of the face	51196	PLCE1	ORPHA:656
HP:0000271	Abnormality of the face	1285	COL4A3	ORPHA:656
HP:0000271	Abnormality of the face	396	ARHGDIA	ORPHA:656
HP:0000271	Abnormality of the face	79934	COQ8B	ORPHA:656
HP:0000271	Abnormality of the face	23279	NUP160	ORPHA:656
HP:0000271	Abnormality of the face	9863	MAGI2	ORPHA:656
HP:0000271	Abnormality of the face	81	ACTN4	ORPHA:656
HP:0000271	Abnormality of the face	7225	TRPC6	ORPHA:656
HP:0000271	Abnormality of the face	8542	APOL1	ORPHA:656
HP:0000271	Abnormality of the face	54885	TBC1D8B	ORPHA:656
HP:0000271	Abnormality of the face	7827	NPHS2	ORPHA:656
HP:0000271	Abnormality of the face	83478	ARHGAP24	ORPHA:656
HP:0000271	Abnormality of the face	23500	DAAM2	ORPHA:656
HP:0000271	Abnormality of the face	55746	NUP133	ORPHA:656
HP:0000271	Abnormality of the face	7045	TGFBI	OMIM:608470
HP:0000271	Abnormality of the face	1893	ECM1	ORPHA:530
HP:0000271	Abnormality of the face	2947	GSTM3	ORPHA:586
HP:0000271	Abnormality of the face	2729	GCLC	ORPHA:586
HP:0000271	Abnormality of the face	1084	CEACAM3	ORPHA:586
HP:0000271	Abnormality of the face	6556	SLC11A1	ORPHA:586
HP:0000271	Abnormality of the face	51164	DCTN4	ORPHA:586
HP:0000271	Abnormality of the face	3783	KCNN4	ORPHA:586
HP:0000271	Abnormality of the face	4282	MIF	ORPHA:586
HP:0000271	Abnormality of the face	6550	SLC9A3	ORPHA:586
HP:0000271	Abnormality of the face	3162	HMOX1	ORPHA:586
HP:0000271	Abnormality of the face	115019	SLC26A9	ORPHA:586
HP:0000271	Abnormality of the face	3077	HFE	ORPHA:586
HP:0000271	Abnormality of the face	11254	SLC6A14	ORPHA:586
HP:0000271	Abnormality of the face	5265	SERPINA1	ORPHA:586
HP:0000271	Abnormality of the face	1080	CFTR	ORPHA:586
HP:0000271	Abnormality of the face	1080	CFTR	OMIM:219700
HP:0000271	Abnormality of the face	22802	CLCA4	ORPHA:586
HP:0000271	Abnormality of the face	4680	CEACAM6	ORPHA:586
HP:0000271	Abnormality of the face	2212	FCGR2A	OMIM:219700
HP:0000271	Abnormality of the face	30009	TBX21	OMIM:208550
HP:0000271	Abnormality of the face	5732	PTGER2	OMIM:208550
HP:0000271	Abnormality of the face	6794	STK11	ORPHA:2869
HP:0000271	Abnormality of the face	6794	STK11	OMIM:175200
HP:0000271	Abnormality of the face	6890	TAP1	OMIM:604571
HP:0000271	Abnormality of the face	6891	TAP2	OMIM:604571
HP:0000271	Abnormality of the face	6892	TAPBP	OMIM:604571
HP:0000271	Abnormality of the face	9094	UNC119	OMIM:615518
HP:0000271	Abnormality of the face	85452	CFAP74	OMIM:620197
HP:0000271	Abnormality of the face	4486	MST1R	OMIM:617075
HP:0000271	Abnormality of the face	4609	MYC	ORPHA:543
HP:0000271	Abnormality of the face	112858	TP53RK	OMIM:617730
HP:0000271	Abnormality of the face	50940	PDE11A	ORPHA:1359
HP:0000271	Abnormality of the face	8974	P4HA2	ORPHA:397
HP:0000271	Abnormality of the face	4791	NFKB2	ORPHA:293978
HP:0000271	Abnormality of the face	7132	TNFRSF1A	ORPHA:32960
HP:0000271	Abnormality of the face	331	XIAP	OMIM:308240
HP:0000271	Abnormality of the face	4068	SH2D1A	OMIM:308240
HP:0000271	Abnormality of the face	3858	KRT10	ORPHA:312
HP:0000271	Abnormality of the face	3848	KRT1	ORPHA:312
HP:0000271	Abnormality of the face	10483	SEC23B	ORPHA:201
HP:0000271	Abnormality of the face	6390	SDHB	ORPHA:201
HP:0000271	Abnormality of the face	6392	SDHD	ORPHA:201
HP:0000271	Abnormality of the face	6391	SDHC	ORPHA:201
HP:0000271	Abnormality of the face	205717	USF3	ORPHA:201
HP:0000271	Abnormality of the face	100144748	KLLN	ORPHA:201
HP:0000271	Abnormality of the face	4143	MAT1A	OMIM:250850
HP:0000271	Abnormality of the face	8991	SELENBP1	OMIM:618148
HP:0000271	Abnormality of the face	100	ADA	ORPHA:39041
HP:0000271	Abnormality of the face	3861	KRT14	OMIM:601001
HP:0000271	Abnormality of the face	3861	KRT14	ORPHA:89838
HP:0000271	Abnormality of the face	3861	KRT14	OMIM:131760
HP:0000271	Abnormality of the face	3861	KRT14	ORPHA:79400
HP:0000271	Abnormality of the face	3861	KRT14	OMIM:131900
HP:0000271	Abnormality of the face	3861	KRT14	ORPHA:79396
HP:0000271	Abnormality of the face	3861	KRT14	ORPHA:79397
HP:0000271	Abnormality of the face	3861	KRT14	ORPHA:79399
HP:0000271	Abnormality of the face	3852	KRT5	OMIM:619555
HP:0000271	Abnormality of the face	3852	KRT5	OMIM:619599
HP:0000271	Abnormality of the face	3852	KRT5	OMIM:131760
HP:0000271	Abnormality of the face	3852	KRT5	ORPHA:158681
HP:0000271	Abnormality of the face	3852	KRT5	ORPHA:79400
HP:0000271	Abnormality of the face	3852	KRT5	ORPHA:79396
HP:0000271	Abnormality of the face	3852	KRT5	ORPHA:79397
HP:0000271	Abnormality of the face	3852	KRT5	ORPHA:79399
HP:0000271	Abnormality of the face	5339	PLEC	OMIM:226730
HP:0000271	Abnormality of the face	5339	PLEC	ORPHA:158684
HP:0000271	Abnormality of the face	3655	ITGA6	OMIM:619817
HP:0000271	Abnormality of the face	3655	ITGA6	ORPHA:79403
HP:0000271	Abnormality of the face	3909	LAMA3	ORPHA:79402
HP:0000271	Abnormality of the face	3909	LAMA3	OMIM:619784
HP:0000271	Abnormality of the face	3909	LAMA3	OMIM:619783
HP:0000271	Abnormality of the face	3918	LAMC2	ORPHA:79402
HP:0000271	Abnormality of the face	3918	LAMC2	OMIM:619785
HP:0000271	Abnormality of the face	3918	LAMC2	OMIM:619786
HP:0000271	Abnormality of the face	1294	COL7A1	OMIM:132000
HP:0000271	Abnormality of the face	1294	COL7A1	ORPHA:79408
HP:0000271	Abnormality of the face	1294	COL7A1	ORPHA:79409
HP:0000271	Abnormality of the face	1294	COL7A1	OMIM:226600
HP:0000271	Abnormality of the face	1294	COL7A1	ORPHA:231568
HP:0000271	Abnormality of the face	1294	COL7A1	ORPHA:79410
HP:0000271	Abnormality of the face	1294	COL7A1	ORPHA:79411
HP:0000271	Abnormality of the face	4312	MMP1	ORPHA:79408
HP:0000271	Abnormality of the face	4312	MMP1	OMIM:226600
HP:0000271	Abnormality of the face	1830	DSG3	OMIM:619226
HP:0000271	Abnormality of the face	79574	EPS8L3	ORPHA:444
HP:0000271	Abnormality of the face	6144	RPL21	OMIM:615885
HP:0000271	Abnormality of the face	6635	SNRPE	OMIM:615059
HP:0000271	Abnormality of the face	4247	MGAT2	ORPHA:79329
HP:0000271	Abnormality of the face	8239	USP9X	ORPHA:480880
HP:0000271	Abnormality of the face	57379	AICDA	OMIM:605258
HP:0000271	Abnormality of the face	64421	DCLRE1C	ORPHA:275
HP:0000271	Abnormality of the face	7374	UNG	OMIM:608106
HP:0000271	Abnormality of the face	6340	SCNN1G	ORPHA:171876
HP:0000271	Abnormality of the face	6337	SCNN1A	ORPHA:171876
HP:0000271	Abnormality of the face	6338	SCNN1B	ORPHA:171876
HP:0000271	Abnormality of the face	29969	MDFIC	OMIM:620014
HP:0000271	Abnormality of the face	7535	ZAP70	ORPHA:911
HP:0000271	Abnormality of the face	1739	DLG1	ORPHA:199306
HP:0000271	Abnormality of the face	5156	PDGFRA	ORPHA:199306
HP:0000271	Abnormality of the face	9411	ARHGAP29	ORPHA:199306
HP:0000271	Abnormality of the face	4593	MUSK	ORPHA:98913
HP:0000271	Abnormality of the face	221264	AK9	ORPHA:98913
HP:0000271	Abnormality of the face	6310	ATXN1	ORPHA:98755
HP:0000271	Abnormality of the face	55612	FERMT1	OMIM:173650
HP:0000271	Abnormality of the face	79798	ARMC5	ORPHA:189427
HP:0000271	Abnormality of the face	8622	PDE8B	ORPHA:189439
HP:0000271	Abnormality of the face	779	CACNA1S	ORPHA:423
HP:0000273	Facial grimacing	2737	GLI3	ORPHA:672
HP:0000273	Facial grimacing	724066	ATXN8	ORPHA:98760
HP:0000273	Facial grimacing	6315	ATXN8OS	ORPHA:98760
HP:0000273	Facial grimacing	5138	PDE2A	OMIM:619150
HP:0000273	Facial grimacing	57459	GATAD2B	ORPHA:363686
HP:0000273	Facial grimacing	25953	PNKD	OMIM:118800
HP:0000273	Facial grimacing	9860	LRIG2	OMIM:615112
HP:0000273	Facial grimacing	1387	CREBBP	OMIM:180849
HP:0000273	Facial grimacing	1387	CREBBP	ORPHA:353277
HP:0000273	Facial grimacing	2033	EP300	OMIM:180849
HP:0000273	Facial grimacing	2033	EP300	ORPHA:353284
HP:0000273	Facial grimacing	1356	CP	ORPHA:48818
HP:0000273	Facial grimacing	80025	PANK2	OMIM:234200
HP:0000273	Facial grimacing	501	ALDH7A1	ORPHA:3006
HP:0000273	Facial grimacing	11212	PLPBP	ORPHA:3006
HP:0000274	Small face	2261	FGFR3	OMIM:187601
HP:0000274	Small face	2261	FGFR3	OMIM:187600
HP:0000274	Small face	9469	CHST3	OMIM:245600
HP:0000274	Small face	26229	B3GAT3	OMIM:245600
HP:0000274	Small face	11285	B4GALT7	OMIM:130070
HP:0000274	Small face	2690	GHR	OMIM:262500
HP:0000274	Small face	3643	INSR	OMIM:246200
HP:0000274	Small face	1663	DDX11	OMIM:613398
HP:0000274	Small face	2316	FLNA	OMIM:309350
HP:0000274	Small face	22907	DHX30	OMIM:617804
HP:0000274	Small face	6328	SCN3A	OMIM:617935
HP:0000274	Small face	6662	SOX9	OMIM:114290
HP:0000274	Small face	10716	TBR1	ORPHA:1617
HP:0000274	Small face	9382	COG1	OMIM:611209
HP:0000274	Small face	6535	SLC6A8	OMIM:300352
HP:0000274	Small face	26235	FBXL4	OMIM:615471
HP:0000274	Small face	2138	EYA1	OMIM:113650
HP:0000274	Small face	2138	EYA1	OMIM:166780
HP:0000274	Small face	6495	SIX1	OMIM:113650
HP:0000274	Small face	23314	SATB2	ORPHA:251028
HP:0000274	Small face	92335	STRADA	ORPHA:500533
HP:0000274	Small face	5077	PAX3	ORPHA:1529
HP:0000274	Small face	538	ATP7A	OMIM:304150
HP:0000274	Small face	50814	NSDHL	ORPHA:251383
HP:0000274	Small face	50814	NSDHL	OMIM:300831
HP:0000274	Small face	10084	PQBP1	ORPHA:93950
HP:0000274	Small face	10084	PQBP1	ORPHA:93945
HP:0000274	Small face	10084	PQBP1	ORPHA:93947
HP:0000274	Small face	10084	PQBP1	OMIM:309500
HP:0000274	Small face	64324	NSD1	ORPHA:821
HP:0000274	Small face	64324	NSD1	OMIM:117550
HP:0000274	Small face	29072	SETD2	ORPHA:821
HP:0000274	Small face	10297	APC2	ORPHA:821
HP:0000274	Small face	10479	SLC9A6	OMIM:300243
HP:0000274	Small face	10479	SLC9A6	ORPHA:85278
HP:0000274	Small face	58	ACTA1	ORPHA:171436
HP:0000274	Small face	58	ACTA1	ORPHA:171439
HP:0000274	Small face	7169	TPM2	ORPHA:171436
HP:0000274	Small face	7169	TPM2	ORPHA:1147
HP:0000274	Small face	7169	TPM2	ORPHA:171439
HP:0000274	Small face	4703	NEB	ORPHA:171436
HP:0000274	Small face	4703	NEB	ORPHA:171439
HP:0000274	Small face	10324	KLHL41	ORPHA:171436
HP:0000274	Small face	10324	KLHL41	ORPHA:171439
HP:0000274	Small face	56203	LMOD3	ORPHA:171436
HP:0000274	Small face	1073	CFL2	ORPHA:171436
HP:0000274	Small face	89910	UBE3B	OMIM:244450
HP:0000274	Small face	89910	UBE3B	ORPHA:2707
HP:0000274	Small face	10525	HYOU1	OMIM:233600
HP:0000274	Small face	23431	AP4E1	OMIM:613744
HP:0000274	Small face	55636	CHD7	ORPHA:138
HP:0000274	Small face	9723	SEMA3E	ORPHA:138
HP:0000274	Small face	51114	ZDHHC9	ORPHA:776
HP:0000274	Small face	65109	UPF3B	ORPHA:776
HP:0000274	Small face	65109	UPF3B	OMIM:300676
HP:0000274	Small face	9968	MED12	ORPHA:776
HP:0000274	Small face	9968	MED12	OMIM:309520
HP:0000274	Small face	25778	DSTYK	OMIM:270750
HP:0000274	Small face	4810	NHS	OMIM:302350
HP:0000274	Small face	7102	TSPAN7	OMIM:300210
HP:0000274	Small face	51132	RLIM	OMIM:300978
HP:0000274	Small face	2200	FBN1	OMIM:154700
HP:0000274	Small face	9401	RECQL4	ORPHA:1225
HP:0000274	Small face	7170	TPM3	OMIM:609284
HP:0000274	Small face	7170	TPM3	OMIM:255310
HP:0000274	Small face	7170	TPM3	ORPHA:171439
HP:0000274	Small face	54880	BCOR	ORPHA:2712
HP:0000274	Small face	54880	BCOR	OMIM:300166
HP:0000274	Small face	9241	NOG	OMIM:186500
HP:0000274	Small face	4854	NOTCH3	ORPHA:2789
HP:0000274	Small face	25942	SIN3A	OMIM:613406
HP:0000274	Small face	4000	LMNA	ORPHA:79474
HP:0000274	Small face	3981	LIG4	ORPHA:235
HP:0000274	Small face	54888	NSUN2	ORPHA:235
HP:0000274	Small face	54888	NSUN2	OMIM:611091
HP:0000274	Small face	6611	SMS	ORPHA:3063
HP:0000274	Small face	55768	NGLY1	OMIM:615273
HP:0000274	Small face	10367	MICU1	OMIM:615673
HP:0000274	Small face	2332	FMR1	ORPHA:908
HP:0000274	Small face	6804	STX1A	ORPHA:904
HP:0000274	Small face	7461	CLIP2	ORPHA:904
HP:0000274	Small face	84277	DNAJC30	ORPHA:904
HP:0000274	Small face	8468	FKBP6	ORPHA:904
HP:0000274	Small face	5982	RFC2	ORPHA:904
HP:0000274	Small face	2969	GTF2I	ORPHA:904
HP:0000274	Small face	3984	LIMK1	ORPHA:904
HP:0000274	Small face	9569	GTF2IRD1	ORPHA:904
HP:0000274	Small face	155382	VPS37D	ORPHA:904
HP:0000274	Small face	155368	METTL27	ORPHA:904
HP:0000274	Small face	114049	BUD23	ORPHA:904
HP:0000274	Small face	7458	EIF4H	ORPHA:904
HP:0000274	Small face	84163	GTF2IRD2	ORPHA:904
HP:0000274	Small face	9275	BCL7B	ORPHA:904
HP:0000274	Small face	26608	TBL2	ORPHA:904
HP:0000274	Small face	653361	NCF1	ORPHA:904
HP:0000274	Small face	135886	TMEM270	ORPHA:904
HP:0000274	Small face	51085	MLXIPL	ORPHA:904
HP:0000274	Small face	9031	BAZ1B	ORPHA:904
HP:0000274	Small face	2006	ELN	ORPHA:904
HP:0000274	Small face	80152	CENPT	OMIM:618702
HP:0000274	Small face	6899	TBX1	ORPHA:1727
HP:0000274	Small face	4784	NFIX	ORPHA:420179
HP:0000274	Small face	4784	NFIX	OMIM:614753
HP:0000274	Small face	4534	MTM1	OMIM:310400
HP:0000274	Small face	7486	WRN	ORPHA:902
HP:0000274	Small face	8085	KMT2D	OMIM:620186
HP:0000274	Small face	80781	COL18A1	OMIM:267750
HP:0000274	Small face	63932	STEEP1	OMIM:301013
HP:0000274	Small face	5605	MAP2K2	OMIM:615280
HP:0000274	Small face	9321	TRIP11	OMIM:184260
HP:0000274	Small face	10293	TRAIP	OMIM:616777
HP:0000274	Small face	10293	TRAIP	ORPHA:808
HP:0000274	Small face	641	BLM	OMIM:210900
HP:0000274	Small face	641	BLM	ORPHA:125
HP:0000274	Small face	2542	SLC37A4	OMIM:619525
HP:0000274	Small face	93587	TRMT10A	ORPHA:391408
HP:0000274	Small face	84919	PPP1R15B	ORPHA:391408
HP:0000274	Small face	7140	TNNT3	ORPHA:1147
HP:0000274	Small face	4621	MYH3	ORPHA:1147
HP:0000274	Small face	259232	NALCN	ORPHA:1147
HP:0000274	Small face	7136	TNNI2	ORPHA:1147
HP:0000274	Small face	84665	MYPN	ORPHA:171439
HP:0000274	Small face	390594	KBTBD13	ORPHA:171439
HP:0000274	Small face	545	ATR	ORPHA:808
HP:0000274	Small face	1062	CENPE	ORPHA:808
HP:0000274	Small face	5116	PCNT	ORPHA:808
HP:0000274	Small face	5932	RBBP8	ORPHA:808
HP:0000274	Small face	79902	NUP85	ORPHA:808
HP:0000274	Small face	84126	ATRIP	ORPHA:808
HP:0000274	Small face	55835	CENPJ	ORPHA:808
HP:0000274	Small face	22995	CEP152	ORPHA:808
HP:0000274	Small face	10733	PLK4	ORPHA:808
HP:0000274	Small face	6261	RYR1	ORPHA:98905
HP:0000274	Small face	2072	ERCC4	OMIM:610965
HP:0000274	Small face	6567	SLC16A2	ORPHA:59
HP:0000274	Small face	118429	ANTXR2	OMIM:228600
HP:0000274	Small face	5087	PBX1	OMIM:617641
HP:0000274	Small face	1140	CHRNB1	OMIM:616313
HP:0000274	Small face	10382	TUBB4A	OMIM:128101
HP:0000274	Small face	7314	UBB	ORPHA:99772
HP:0000274	Small face	57822	GRHL3	ORPHA:99772
HP:0000274	Small face	84172	POLR1B	ORPHA:861
HP:0000274	Small face	9533	POLR1C	ORPHA:861
HP:0000274	Small face	51082	POLR1D	ORPHA:861
HP:0000274	Small face	6949	TCOF1	ORPHA:861
HP:0000274	Small face	860	RUNX2	ORPHA:1452
HP:0000274	Small face	2260	FGFR1	ORPHA:99798
HP:0000274	Small face	4487	MSX1	ORPHA:99798
HP:0000274	Small face	128178	EDARADD	ORPHA:99798
HP:0000274	Small face	5083	PAX9	ORPHA:99798
HP:0000274	Small face	7341	SUMO1	ORPHA:99798
HP:0000274	Small face	80326	WNT10A	ORPHA:99798
HP:0000274	Small face	1896	EDA	ORPHA:99798
HP:0000274	Small face	8313	AXIN2	ORPHA:99798
HP:0000274	Small face	3664	IRF6	ORPHA:99798
HP:0000274	Small face	4040	LRP6	ORPHA:99798
HP:0000274	Small face	7039	TGFA	ORPHA:99798
HP:0000274	Small face	7480	WNT10B	ORPHA:99798
HP:0000275	Narrow face	6535	SLC6A8	OMIM:300352
HP:0000275	Narrow face	26235	FBXL4	OMIM:615471
HP:0000275	Narrow face	2138	EYA1	OMIM:113650
HP:0000275	Narrow face	2138	EYA1	OMIM:166780
HP:0000275	Narrow face	6495	SIX1	OMIM:113650
HP:0000275	Narrow face	23314	SATB2	ORPHA:251028
HP:0000275	Narrow face	92335	STRADA	ORPHA:500533
HP:0000275	Narrow face	5077	PAX3	ORPHA:1529
HP:0000275	Narrow face	538	ATP7A	OMIM:304150
HP:0000275	Narrow face	50814	NSDHL	ORPHA:251383
HP:0000275	Narrow face	50814	NSDHL	OMIM:300831
HP:0000275	Narrow face	10084	PQBP1	ORPHA:93950
HP:0000275	Narrow face	10084	PQBP1	ORPHA:93945
HP:0000275	Narrow face	10084	PQBP1	ORPHA:93947
HP:0000275	Narrow face	10084	PQBP1	OMIM:309500
HP:0000275	Narrow face	64324	NSD1	ORPHA:821
HP:0000275	Narrow face	64324	NSD1	OMIM:117550
HP:0000275	Narrow face	29072	SETD2	ORPHA:821
HP:0000275	Narrow face	10297	APC2	ORPHA:821
HP:0000275	Narrow face	10479	SLC9A6	OMIM:300243
HP:0000275	Narrow face	10479	SLC9A6	ORPHA:85278
HP:0000275	Narrow face	58	ACTA1	ORPHA:171436
HP:0000275	Narrow face	58	ACTA1	ORPHA:171439
HP:0000275	Narrow face	7169	TPM2	ORPHA:171436
HP:0000275	Narrow face	7169	TPM2	ORPHA:1147
HP:0000275	Narrow face	7169	TPM2	ORPHA:171439
HP:0000275	Narrow face	4703	NEB	ORPHA:171436
HP:0000275	Narrow face	4703	NEB	ORPHA:171439
HP:0000275	Narrow face	10324	KLHL41	ORPHA:171436
HP:0000275	Narrow face	10324	KLHL41	ORPHA:171439
HP:0000275	Narrow face	56203	LMOD3	ORPHA:171436
HP:0000275	Narrow face	1073	CFL2	ORPHA:171436
HP:0000275	Narrow face	89910	UBE3B	OMIM:244450
HP:0000275	Narrow face	89910	UBE3B	ORPHA:2707
HP:0000275	Narrow face	10525	HYOU1	OMIM:233600
HP:0000275	Narrow face	23431	AP4E1	OMIM:613744
HP:0000275	Narrow face	55636	CHD7	ORPHA:138
HP:0000275	Narrow face	9723	SEMA3E	ORPHA:138
HP:0000275	Narrow face	51114	ZDHHC9	ORPHA:776
HP:0000275	Narrow face	65109	UPF3B	ORPHA:776
HP:0000275	Narrow face	65109	UPF3B	OMIM:300676
HP:0000275	Narrow face	9968	MED12	ORPHA:776
HP:0000275	Narrow face	9968	MED12	OMIM:309520
HP:0000275	Narrow face	25778	DSTYK	OMIM:270750
HP:0000275	Narrow face	4810	NHS	OMIM:302350
HP:0000275	Narrow face	7102	TSPAN7	OMIM:300210
HP:0000275	Narrow face	51132	RLIM	OMIM:300978
HP:0000275	Narrow face	2200	FBN1	OMIM:154700
HP:0000275	Narrow face	9401	RECQL4	ORPHA:1225
HP:0000275	Narrow face	7170	TPM3	OMIM:609284
HP:0000275	Narrow face	7170	TPM3	OMIM:255310
HP:0000275	Narrow face	7170	TPM3	ORPHA:171439
HP:0000275	Narrow face	54880	BCOR	ORPHA:2712
HP:0000275	Narrow face	54880	BCOR	OMIM:300166
HP:0000275	Narrow face	9241	NOG	OMIM:186500
HP:0000275	Narrow face	4854	NOTCH3	ORPHA:2789
HP:0000275	Narrow face	25942	SIN3A	OMIM:613406
HP:0000275	Narrow face	4000	LMNA	ORPHA:79474
HP:0000275	Narrow face	3981	LIG4	ORPHA:235
HP:0000275	Narrow face	54888	NSUN2	ORPHA:235
HP:0000275	Narrow face	54888	NSUN2	OMIM:611091
HP:0000275	Narrow face	6611	SMS	ORPHA:3063
HP:0000275	Narrow face	55768	NGLY1	OMIM:615273
HP:0000275	Narrow face	10367	MICU1	OMIM:615673
HP:0000275	Narrow face	2332	FMR1	ORPHA:908
HP:0000275	Narrow face	6804	STX1A	ORPHA:904
HP:0000275	Narrow face	7461	CLIP2	ORPHA:904
HP:0000275	Narrow face	84277	DNAJC30	ORPHA:904
HP:0000275	Narrow face	8468	FKBP6	ORPHA:904
HP:0000275	Narrow face	5982	RFC2	ORPHA:904
HP:0000275	Narrow face	2969	GTF2I	ORPHA:904
HP:0000275	Narrow face	3984	LIMK1	ORPHA:904
HP:0000275	Narrow face	9569	GTF2IRD1	ORPHA:904
HP:0000275	Narrow face	155382	VPS37D	ORPHA:904
HP:0000275	Narrow face	155368	METTL27	ORPHA:904
HP:0000275	Narrow face	114049	BUD23	ORPHA:904
HP:0000275	Narrow face	7458	EIF4H	ORPHA:904
HP:0000275	Narrow face	84163	GTF2IRD2	ORPHA:904
HP:0000275	Narrow face	9275	BCL7B	ORPHA:904
HP:0000275	Narrow face	26608	TBL2	ORPHA:904
HP:0000275	Narrow face	653361	NCF1	ORPHA:904
HP:0000275	Narrow face	135886	TMEM270	ORPHA:904
HP:0000275	Narrow face	51085	MLXIPL	ORPHA:904
HP:0000275	Narrow face	9031	BAZ1B	ORPHA:904
HP:0000275	Narrow face	2006	ELN	ORPHA:904
HP:0000275	Narrow face	80152	CENPT	OMIM:618702
HP:0000275	Narrow face	6899	TBX1	ORPHA:1727
HP:0000275	Narrow face	4784	NFIX	ORPHA:420179
HP:0000275	Narrow face	4784	NFIX	OMIM:614753
HP:0000275	Narrow face	4534	MTM1	OMIM:310400
HP:0000275	Narrow face	7486	WRN	ORPHA:902
HP:0000275	Narrow face	8085	KMT2D	OMIM:620186
HP:0000275	Narrow face	80781	COL18A1	OMIM:267750
HP:0000275	Narrow face	63932	STEEP1	OMIM:301013
HP:0000275	Narrow face	5605	MAP2K2	OMIM:615280
HP:0000275	Narrow face	9321	TRIP11	OMIM:184260
HP:0000275	Narrow face	10293	TRAIP	OMIM:616777
HP:0000275	Narrow face	10293	TRAIP	ORPHA:808
HP:0000275	Narrow face	641	BLM	OMIM:210900
HP:0000275	Narrow face	641	BLM	ORPHA:125
HP:0000275	Narrow face	2542	SLC37A4	OMIM:619525
HP:0000275	Narrow face	93587	TRMT10A	ORPHA:391408
HP:0000275	Narrow face	84919	PPP1R15B	ORPHA:391408
HP:0000275	Narrow face	7140	TNNT3	ORPHA:1147
HP:0000275	Narrow face	4621	MYH3	ORPHA:1147
HP:0000275	Narrow face	259232	NALCN	ORPHA:1147
HP:0000275	Narrow face	7136	TNNI2	ORPHA:1147
HP:0000275	Narrow face	84665	MYPN	ORPHA:171439
HP:0000275	Narrow face	390594	KBTBD13	ORPHA:171439
HP:0000275	Narrow face	545	ATR	ORPHA:808
HP:0000275	Narrow face	1062	CENPE	ORPHA:808
HP:0000275	Narrow face	5116	PCNT	ORPHA:808
HP:0000275	Narrow face	5932	RBBP8	ORPHA:808
HP:0000275	Narrow face	79902	NUP85	ORPHA:808
HP:0000275	Narrow face	84126	ATRIP	ORPHA:808
HP:0000275	Narrow face	55835	CENPJ	ORPHA:808
HP:0000275	Narrow face	22995	CEP152	ORPHA:808
HP:0000275	Narrow face	10733	PLK4	ORPHA:808
HP:0000275	Narrow face	6261	RYR1	ORPHA:98905
HP:0000275	Narrow face	2072	ERCC4	OMIM:610965
HP:0000275	Narrow face	6567	SLC16A2	ORPHA:59
HP:0000275	Narrow face	118429	ANTXR2	OMIM:228600
HP:0000275	Narrow face	5087	PBX1	OMIM:617641
HP:0000275	Narrow face	1140	CHRNB1	OMIM:616313
HP:0000275	Narrow face	10382	TUBB4A	OMIM:128101
HP:0000276	Long face	2137	EXTL3	ORPHA:508533
HP:0000276	Long face	2673	GFPT1	OMIM:608931
HP:0000276	Long face	1145	CHRNE	OMIM:608931
HP:0000276	Long face	6535	SLC6A8	OMIM:300352
HP:0000276	Long face	11253	MAN1B1	ORPHA:397941
HP:0000276	Long face	11253	MAN1B1	OMIM:614202
HP:0000276	Long face	324	APC	ORPHA:261584
HP:0000276	Long face	1183	CLCN4	OMIM:300114
HP:0000276	Long face	1183	CLCN4	ORPHA:485350
HP:0000276	Long face	2138	EYA1	OMIM:113650
HP:0000276	Long face	2138	EYA1	OMIM:166780
HP:0000276	Long face	6495	SIX1	OMIM:113650
HP:0000276	Long face	9853	RUSC2	OMIM:617773
HP:0000276	Long face	5913	RAPSN	OMIM:616326
HP:0000276	Long face	4897	NRCAM	OMIM:619833
HP:0000276	Long face	145173	B3GLCT	ORPHA:709
HP:0000276	Long face	145173	B3GLCT	OMIM:261540
HP:0000276	Long face	26040	SETBP1	ORPHA:436151
HP:0000276	Long face	26040	SETBP1	OMIM:616078
HP:0000276	Long face	91801	ALKBH8	OMIM:618504
HP:0000276	Long face	3703	STT3A	OMIM:619714
HP:0000276	Long face	538	ATP7A	OMIM:304150
HP:0000276	Long face	5457	POU4F1	ORPHA:314647
HP:0000276	Long face	23261	CAMTA1	ORPHA:314647
HP:0000276	Long face	23261	CAMTA1	OMIM:614756
HP:0000276	Long face	1161	ERCC8	ORPHA:90321
HP:0000276	Long face	1161	ERCC8	ORPHA:90322
HP:0000276	Long face	2072	ERCC4	ORPHA:90321
HP:0000276	Long face	2074	ERCC6	ORPHA:90321
HP:0000276	Long face	2074	ERCC6	ORPHA:90322
HP:0000276	Long face	10084	PQBP1	ORPHA:93950
HP:0000276	Long face	10084	PQBP1	ORPHA:93945
HP:0000276	Long face	10084	PQBP1	ORPHA:93947
HP:0000276	Long face	10084	PQBP1	OMIM:309500
HP:0000276	Long face	64324	NSD1	ORPHA:821
HP:0000276	Long face	64324	NSD1	OMIM:117550
HP:0000276	Long face	29072	SETD2	ORPHA:821
HP:0000276	Long face	29072	SETD2	OMIM:620157
HP:0000276	Long face	29072	SETD2	OMIM:620155
HP:0000276	Long face	29072	SETD2	OMIM:616831
HP:0000276	Long face	10297	APC2	ORPHA:821
HP:0000276	Long face	10297	APC2	OMIM:617169
HP:0000276	Long face	2067	ERCC1	ORPHA:90322
HP:0000276	Long face	3190	HNRNPK	ORPHA:453504
HP:0000276	Long face	3190	HNRNPK	OMIM:616580
HP:0000276	Long face	3190	HNRNPK	ORPHA:352665
HP:0000276	Long face	4784	NFIX	ORPHA:447980
HP:0000276	Long face	4784	NFIX	OMIM:614753
HP:0000276	Long face	4983	OPHN1	OMIM:300486
HP:0000276	Long face	23118	TAB2	ORPHA:228410
HP:0000276	Long face	10479	SLC9A6	OMIM:300243
HP:0000276	Long face	10479	SLC9A6	ORPHA:85278
HP:0000276	Long face	9578	CDC42BPB	OMIM:619841
HP:0000276	Long face	613	BCR	ORPHA:261330
HP:0000276	Long face	1399	CRKL	ORPHA:261330
HP:0000276	Long face	5594	MAPK1	ORPHA:261330
HP:0000276	Long face	7552	ZNF711	OMIM:300803
HP:0000276	Long face	89910	UBE3B	OMIM:244450
HP:0000276	Long face	89910	UBE3B	ORPHA:2707
HP:0000276	Long face	283489	CHAMP1	OMIM:616579
HP:0000276	Long face	10026	PIGK	OMIM:618879
HP:0000276	Long face	23322	RPGRIP1L	ORPHA:220497
HP:0000276	Long face	23322	RPGRIP1L	ORPHA:1454
HP:0000276	Long face	4867	NPHP1	ORPHA:220497
HP:0000276	Long face	65062	TMEM237	ORPHA:220497
HP:0000276	Long face	65062	TMEM237	ORPHA:475
HP:0000276	Long face	65062	TMEM237	ORPHA:2318
HP:0000276	Long face	54806	AHI1	ORPHA:220493
HP:0000276	Long face	54806	AHI1	ORPHA:475
HP:0000276	Long face	56623	INPP5E	ORPHA:220493
HP:0000276	Long face	56623	INPP5E	ORPHA:475
HP:0000276	Long face	56623	INPP5E	ORPHA:1454
HP:0000276	Long face	153241	CEP120	ORPHA:220493
HP:0000276	Long face	153241	CEP120	ORPHA:475
HP:0000276	Long face	54903	MKS1	ORPHA:220493
HP:0000276	Long face	54903	MKS1	ORPHA:475
HP:0000276	Long face	95681	CEP41	ORPHA:220493
HP:0000276	Long face	95681	CEP41	ORPHA:475
HP:0000276	Long face	1146	CHRNG	OMIM:265000
HP:0000276	Long face	1146	CHRNG	ORPHA:2990
HP:0000276	Long face	7102	TSPAN7	OMIM:300210
HP:0000276	Long face	57589	RIC1	OMIM:618761
HP:0000276	Long face	2590	GALNT2	OMIM:618885
HP:0000276	Long face	284058	KANSL1	ORPHA:363958
HP:0000276	Long face	284058	KANSL1	ORPHA:363965
HP:0000276	Long face	284058	KANSL1	OMIM:610443
HP:0000276	Long face	55154	MSTO1	OMIM:617675
HP:0000276	Long face	55154	MSTO1	ORPHA:502423
HP:0000276	Long face	84665	MYPN	ORPHA:171881
HP:0000276	Long face	84665	MYPN	ORPHA:171439
HP:0000276	Long face	7169	TPM2	ORPHA:171881
HP:0000276	Long face	7169	TPM2	ORPHA:2020
HP:0000276	Long face	7169	TPM2	ORPHA:171439
HP:0000276	Long face	7170	TPM3	ORPHA:171881
HP:0000276	Long face	7170	TPM3	ORPHA:2020
HP:0000276	Long face	7170	TPM3	OMIM:255310
HP:0000276	Long face	7170	TPM3	ORPHA:171439
HP:0000276	Long face	7170	TPM3	OMIM:609284
HP:0000276	Long face	80204	FBXO11	OMIM:618089
HP:0000276	Long face	274	BIN1	OMIM:255200
HP:0000276	Long face	274	BIN1	ORPHA:169186
HP:0000276	Long face	83550	GPR101	ORPHA:963
HP:0000276	Long face	9049	AIP	ORPHA:963
HP:0000276	Long face	222663	SCUBE3	OMIM:619184
HP:0000276	Long face	6872	TAF1	ORPHA:480907
HP:0000276	Long face	6872	TAF1	OMIM:300966
HP:0000276	Long face	57190	SELENON	ORPHA:2020
HP:0000276	Long face	58	ACTA1	ORPHA:2020
HP:0000276	Long face	58	ACTA1	ORPHA:171439
HP:0000276	Long face	4633	MYL2	ORPHA:2020
HP:0000276	Long face	3679	ITGA7	ORPHA:2020
HP:0000276	Long face	9200	HACD1	ORPHA:2020
HP:0000276	Long face	51776	MAP3K20	ORPHA:2020
HP:0000276	Long face	4763	NF1	ORPHA:363700
HP:0000276	Long face	23327	NEDD4L	OMIM:617201
HP:0000276	Long face	5813	PURA	ORPHA:438216
HP:0000276	Long face	23314	SATB2	OMIM:612313
HP:0000276	Long face	23314	SATB2	ORPHA:251028
HP:0000276	Long face	23314	SATB2	ORPHA:251019
HP:0000276	Long face	4338	MOCS2	OMIM:252160
HP:0000276	Long face	25942	SIN3A	OMIM:613406
HP:0000276	Long face	25942	SIN3A	ORPHA:94065
HP:0000276	Long face	4534	MTM1	ORPHA:596
HP:0000276	Long face	4534	MTM1	OMIM:310400
HP:0000276	Long face	79600	TCTN1	ORPHA:475
HP:0000276	Long face	79848	CSPP1	ORPHA:475
HP:0000276	Long face	51684	SUFU	ORPHA:475
HP:0000276	Long face	65250	CPLANE1	ORPHA:475
HP:0000276	Long face	65250	CPLANE1	ORPHA:2754
HP:0000276	Long face	91147	TMEM67	ORPHA:475
HP:0000276	Long face	91147	TMEM67	ORPHA:1454
HP:0000276	Long face	200894	ARL13B	ORPHA:475
HP:0000276	Long face	9731	CEP104	ORPHA:475
HP:0000276	Long face	219844	HYLS1	ORPHA:475
HP:0000276	Long face	23247	KATNIP	ORPHA:475
HP:0000276	Long face	219854	TMEM218	ORPHA:475
HP:0000276	Long face	9786	KIAA0586	ORPHA:475
HP:0000276	Long face	79867	TCTN2	ORPHA:475
HP:0000276	Long face	80776	B9D2	ORPHA:475
HP:0000276	Long face	10464	PIBF1	ORPHA:475
HP:0000276	Long face	80210	ARMC9	ORPHA:475
HP:0000276	Long face	23116	TOGARAM1	ORPHA:475
HP:0000276	Long face	25776	CBY1	ORPHA:475
HP:0000276	Long face	27077	B9D1	ORPHA:475
HP:0000276	Long face	403	ARL3	ORPHA:475
HP:0000276	Long face	6445	SGCG	ORPHA:353
HP:0000276	Long face	253738	EBF3	OMIM:617330
HP:0000276	Long face	65109	UPF3B	OMIM:300676
HP:0000276	Long face	1182	CLCN3	OMIM:619512
HP:0000276	Long face	8905	AP1S2	ORPHA:85335
HP:0000276	Long face	8905	AP1S2	ORPHA:85329
HP:0000276	Long face	8905	AP1S2	OMIM:304340
HP:0000276	Long face	51633	OTUD6B	OMIM:617452
HP:0000276	Long face	51633	OTUD6B	ORPHA:505237
HP:0000276	Long face	2332	FMR1	ORPHA:908
HP:0000276	Long face	2332	FMR1	ORPHA:449291
HP:0000276	Long face	2332	FMR1	OMIM:300624
HP:0000276	Long face	51692	CPSF3	OMIM:619876
HP:0000276	Long face	81031	SLC2A10	ORPHA:3342
HP:0000276	Long face	81031	SLC2A10	OMIM:208050
HP:0000276	Long face	6134	RPL10	ORPHA:459070
HP:0000276	Long face	23345	SYNE1	ORPHA:319332
HP:0000276	Long face	55719	SLF2	OMIM:620184
HP:0000276	Long face	23137	SMC5	OMIM:620185
HP:0000276	Long face	2248	FGF3	OMIM:610706
HP:0000276	Long face	2248	FGF3	ORPHA:2791
HP:0000276	Long face	2248	FGF3	ORPHA:90024
HP:0000276	Long face	55210	ATAD3A	ORPHA:496790
HP:0000276	Long face	55210	ATAD3A	OMIM:617183
HP:0000276	Long face	5605	MAP2K2	OMIM:615280
HP:0000276	Long face	5605	MAP2K2	ORPHA:1340
HP:0000276	Long face	54828	BCAS3	OMIM:619641
HP:0000276	Long face	56098	PCDHGC4	OMIM:619880
HP:0000276	Long face	4256	MGP	ORPHA:85202
HP:0000276	Long face	4256	MGP	OMIM:245150
HP:0000276	Long face	6942	TCF20	OMIM:618430
HP:0000276	Long face	200424	TET3	OMIM:618798
HP:0000276	Long face	51244	CCDC174	OMIM:616816
HP:0000276	Long face	10430	TMEM147	OMIM:620075
HP:0000276	Long face	3187	HNRNPH1	OMIM:620083
HP:0000276	Long face	5373	PMM2	ORPHA:79318
HP:0000276	Long face	9342	SNAP29	OMIM:609528
HP:0000276	Long face	9342	SNAP29	ORPHA:66631
HP:0000276	Long face	23162	MAPK8IP3	OMIM:618443
HP:0000276	Long face	9968	MED12	OMIM:300895
HP:0000276	Long face	9968	MED12	OMIM:309520
HP:0000276	Long face	79989	IFT56	OMIM:619534
HP:0000276	Long face	254065	BRWD3	OMIM:300659
HP:0000276	Long face	7994	KAT6A	OMIM:616268
HP:0000276	Long face	4088	SMAD3	OMIM:613795
HP:0000276	Long face	4088	SMAD3	ORPHA:284984
HP:0000276	Long face	4087	SMAD2	OMIM:619656
HP:0000276	Long face	4087	SMAD2	OMIM:619657
HP:0000276	Long face	390594	KBTBD13	ORPHA:171439
HP:0000276	Long face	4703	NEB	ORPHA:171439
HP:0000276	Long face	10324	KLHL41	ORPHA:171439
HP:0000276	Long face	7476	WNT7A	OMIM:276820
HP:0000276	Long face	84317	CCDC115	OMIM:616828
HP:0000276	Long face	3954	LETM1	OMIM:620089
HP:0000276	Long face	79087	ALG12	ORPHA:79324
HP:0000276	Long face	6567	SLC16A2	ORPHA:59
HP:0000276	Long face	171023	ASXL1	OMIM:605039
HP:0000276	Long face	10533	ATG7	OMIM:619422
HP:0000276	Long face	1523	CUX1	OMIM:618330
HP:0000276	Long face	4212	MEIS2	ORPHA:261190
HP:0000276	Long face	22907	DHX30	OMIM:617804
HP:0000276	Long face	10075	HUWE1	OMIM:309590
HP:0000276	Long face	10290	SPEG	ORPHA:169186
HP:0000276	Long face	6261	RYR1	ORPHA:169186
HP:0000276	Long face	7273	TTN	ORPHA:169186
HP:0000276	Long face	8925	HERC1	OMIM:617011
HP:0000276	Long face	8925	HERC1	ORPHA:457359
HP:0000276	Long face	1281	COL3A1	OMIM:618343
HP:0000276	Long face	23013	SPEN	OMIM:619312
HP:0000276	Long face	23394	ADNP	OMIM:615873
HP:0000276	Long face	79912	PYROXD1	OMIM:617258
HP:0000276	Long face	50814	NSDHL	ORPHA:251383
HP:0000276	Long face	50814	NSDHL	OMIM:300831
HP:0000276	Long face	128869	PIGU	OMIM:618590
HP:0000276	Long face	113179	ADAT3	ORPHA:363528
HP:0000276	Long face	10982	MAPRE2	OMIM:616734
HP:0000276	Long face	4952	OCRL	ORPHA:534
HP:0000276	Long face	84679	SLC9A7	OMIM:301024
HP:0000276	Long face	4810	NHS	OMIM:302350
HP:0000276	Long face	4810	NHS	ORPHA:627
HP:0000276	Long face	2200	FBN1	OMIM:154700
HP:0000276	Long face	63035	BCORL1	OMIM:301029
HP:0000276	Long face	8831	SYNGAP1	ORPHA:544254
HP:0000276	Long face	5604	MAP2K1	ORPHA:1340
HP:0000276	Long face	3845	KRAS	ORPHA:1340
HP:0000276	Long face	673	BRAF	ORPHA:1340
HP:0000276	Long face	1312	COMT	ORPHA:567
HP:0000276	Long face	221037	JMJD1C	ORPHA:567
HP:0000276	Long face	2812	GP1BB	ORPHA:567
HP:0000276	Long face	6239	RREB1	ORPHA:567
HP:0000276	Long face	6899	TBX1	ORPHA:567
HP:0000276	Long face	7290	HIRA	ORPHA:567
HP:0000276	Long face	9632	SEC24C	ORPHA:567
HP:0000276	Long face	7353	UFD1	ORPHA:567
HP:0000276	Long face	421	ARVCF	ORPHA:567
HP:0000276	Long face	79583	TMEM231	ORPHA:2318
HP:0000276	Long face	51524	TMEM138	ORPHA:2318
HP:0000276	Long face	23090	ZNF423	ORPHA:2318
HP:0000276	Long face	80184	CEP290	ORPHA:2318
HP:0000276	Long face	51259	TMEM216	ORPHA:2318
HP:0000276	Long face	51259	TMEM216	ORPHA:2754
HP:0000276	Long face	57545	CC2D2A	ORPHA:2318
HP:0000276	Long face	57545	CC2D2A	ORPHA:1454
HP:0000276	Long face	444	ASPH	OMIM:601552
HP:0000276	Long face	7703	PCGF2	OMIM:618371
HP:0000276	Long face	5422	POLA1	OMIM:301030
HP:0000276	Long face	22808	MRAS	OMIM:618499
HP:0000276	Long face	79576	NKAP	OMIM:301039
HP:0000276	Long face	9401	RECQL4	OMIM:266280
HP:0000276	Long face	116442	RAB39B	OMIM:300271
HP:0000276	Long face	6611	SMS	ORPHA:3063
HP:0000276	Long face	9757	KMT2B	ORPHA:589618
HP:0000276	Long face	10847	SRCAP	OMIM:619595
HP:0000276	Long face	4337	MOCS1	OMIM:252150
HP:0000276	Long face	51002	TPRKB	OMIM:617731
HP:0000276	Long face	4659	PPP1R12A	OMIM:618820
HP:0000276	Long face	4796	TONSL	ORPHA:93357
HP:0000276	Long face	5728	PTEN	ORPHA:744
HP:0000276	Long face	207	AKT1	ORPHA:744
HP:0000276	Long face	207	AKT1	OMIM:176920
HP:0000276	Long face	63932	STEEP1	OMIM:301013
HP:0000276	Long face	54880	BCOR	OMIM:300166
HP:0000276	Long face	51305	KCNK9	OMIM:612292
HP:0000276	Long face	4841	NONO	OMIM:300967
HP:0000276	Long face	4841	NONO	ORPHA:466791
HP:0000276	Long face	5058	PAK1	OMIM:618158
HP:0000276	Long face	29123	ANKRD11	ORPHA:261250
HP:0000276	Long face	91875	TTC5	OMIM:619244
HP:0000276	Long face	10293	TRAIP	OMIM:616777
HP:0000276	Long face	9702	CEP57	OMIM:614114
HP:0000276	Long face	92335	STRADA	OMIM:611087
HP:0000276	Long face	1654	DDX3X	OMIM:300958
HP:0000276	Long face	60482	SLC5A7	ORPHA:98914
HP:0000276	Long face	4649	MYO9A	ORPHA:98914
HP:0000276	Long face	1305	COL13A1	ORPHA:98914
HP:0000276	Long face	1103	CHAT	ORPHA:98914
HP:0000276	Long face	6576	SLC25A1	ORPHA:98914
HP:0000276	Long face	6843	VAMP1	ORPHA:98914
HP:0000276	Long face	375790	AGRN	ORPHA:98914
HP:0000276	Long face	127833	SYT2	ORPHA:98914
HP:0000276	Long face	6572	SLC18A3	ORPHA:98914
HP:0000276	Long face	6616	SNAP25	ORPHA:98914
HP:0000276	Long face	118924	FRA10AC1	OMIM:620113
HP:0000276	Long face	113246	C12orf57	OMIM:218340
HP:0000276	Long face	55252	ASXL2	OMIM:617190
HP:0000276	Long face	54888	NSUN2	OMIM:611091
HP:0000276	Long face	7518	XRCC4	OMIM:616541
HP:0000276	Long face	5528	PPP2R5D	ORPHA:457279
HP:0000276	Long face	4781	NFIB	OMIM:618286
HP:0000276	Long face	23133	PHF8	ORPHA:85287
HP:0000276	Long face	23133	PHF8	OMIM:300263
HP:0000276	Long face	51594	NBAS	OMIM:614800
HP:0000276	Long face	25974	MMACHC	ORPHA:79282
HP:0000276	Long face	25974	MMACHC	OMIM:277400
HP:0000276	Long face	11043	MID2	OMIM:300928
HP:0000276	Long face	4621	MYH3	ORPHA:2990
HP:0000276	Long face	10210	TOPORS	ORPHA:2754
HP:0000276	Long face	9851	KIAA0753	ORPHA:2754
HP:0000276	Long face	26123	TCTN3	ORPHA:2754
HP:0000276	Long face	5147	PDE6D	ORPHA:2754
HP:0000276	Long face	8481	OFD1	ORPHA:2754
HP:0000276	Long face	317662	FAM149B1	ORPHA:2754
HP:0000276	Long face	374654	KIF7	ORPHA:2754
HP:0000276	Long face	1795	DOCK3	OMIM:618292
HP:0000276	Long face	11011	TLK2	OMIM:618050
HP:0000276	Long face	55553	SOX6	OMIM:618971
HP:0000276	Long face	1968	EIF2S3	OMIM:300148
HP:0000276	Long face	5566	PRKACA	OMIM:619142
HP:0000276	Long face	5087	PBX1	OMIM:617641
HP:0000276	Long face	2902	GRIN1	OMIM:614254
HP:0000276	Long face	5567	PRKACB	OMIM:619143
HP:0000276	Long face	4921	DDR2	OMIM:618175
HP:0000276	Long face	7043	TGFB3	OMIM:615582
HP:0000276	Long face	1140	CHRNB1	OMIM:616313
HP:0000276	Long face	25886	POC1A	OMIM:614813
HP:0000276	Long face	5052	PRDX1	OMIM:277400
HP:0000276	Long face	9990	SLC12A6	OMIM:218000
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:79503
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:530838
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0007447	Diffuse palmoplantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0007447	Diffuse palmoplantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0007447	Diffuse palmoplantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0007447	Diffuse palmoplantar hyperkeratosis	57152	SLURP1	ORPHA:86923
HP:0007447	Diffuse palmoplantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0007447	Diffuse palmoplantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0007447	Diffuse palmoplantar hyperkeratosis	9342	SNAP29	ORPHA:66631
HP:0007447	Diffuse palmoplantar hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0007447	Diffuse palmoplantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0007447	Diffuse palmoplantar hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0007436	Hair-nail ectodermal dysplasia	121391	KRT74	OMIM:614929
HP:0007436	Hair-nail ectodermal dysplasia	3891	KRT85	OMIM:602032
HP:0007437	Multiple cutaneous leiomyomas	2271	FH	OMIM:150800
HP:0007437	Multiple cutaneous leiomyomas	2271	FH	ORPHA:523
HP:0007438	Mottled pigmentation of the trunk and proximal extremities	3852	KRT5	OMIM:131960
HP:0010497	Sirenomelia	51339	DACT1	ORPHA:63260
HP:0010497	Sirenomelia	5979	RET	ORPHA:1848
HP:0010497	Sirenomelia	8516	ITGA8	ORPHA:1848
HP:0010497	Sirenomelia	26281	FGF20	ORPHA:1848
HP:0010497	Sirenomelia	2674	GFRA1	ORPHA:1848
HP:0010497	Sirenomelia	7484	WNT9B	ORPHA:1848
HP:0010497	Sirenomelia	80000	GREB1L	ORPHA:1848
HP:0010497	Sirenomelia	526	ATP6V1B2	ORPHA:79500
HP:0010497	Sirenomelia	57465	TBC1D24	ORPHA:79500
HP:0010497	Sirenomelia	5728	PTEN	ORPHA:744
HP:0010497	Sirenomelia	207	AKT1	ORPHA:744
HP:0010499	Patellar subluxation	1303	COL12A1	ORPHA:536516
HP:0010499	Patellar subluxation	7528	YY1	ORPHA:506358
HP:0010499	Patellar subluxation	2201	FBN2	OMIM:121050
HP:0010499	Patellar subluxation	8239	USP9X	ORPHA:480880
HP:0010499	Patellar subluxation	1788	DNMT3A	OMIM:615879
HP:0010499	Patellar subluxation	51256	TBC1D7	OMIM:248000
HP:0010491	Digital constriction ring	2697	GJA1	ORPHA:1010
HP:0010491	Digital constriction ring	4014	LORICRIN	ORPHA:79395
HP:0010490	Abnormality of the palmar creases	23394	ADNP	ORPHA:404448
HP:0010490	Abnormality of the palmar creases	324	APC	ORPHA:261584
HP:0010490	Abnormality of the palmar creases	340533	NEXMIF	OMIM:300912
HP:0010490	Abnormality of the palmar creases	8294	H4C9	OMIM:619951
HP:0010490	Abnormality of the palmar creases	83932	SPRTN	OMIM:616200
HP:0010490	Abnormality of the palmar creases	8425	LTBP4	OMIM:613177
HP:0010490	Abnormality of the palmar creases	51126	NAA20	OMIM:619717
HP:0010490	Abnormality of the palmar creases	2972	BRF1	OMIM:616202
HP:0010490	Abnormality of the palmar creases	2972	BRF1	ORPHA:444072
HP:0010490	Abnormality of the palmar creases	6228	RPS23	OMIM:617412
HP:0010490	Abnormality of the palmar creases	5885	RAD21	OMIM:614701
HP:0010490	Abnormality of the palmar creases	55627	SMPD4	OMIM:618622
HP:0010490	Abnormality of the palmar creases	81857	MED25	OMIM:616449
HP:0010490	Abnormality of the palmar creases	81857	MED25	ORPHA:464738
HP:0010490	Abnormality of the palmar creases	123263	MTFMT	OMIM:614947
HP:0010490	Abnormality of the palmar creases	10274	STAG1	ORPHA:502434
HP:0010490	Abnormality of the palmar creases	56916	SMARCAD1	OMIM:129200
HP:0010490	Abnormality of the palmar creases	5830	PEX5	OMIM:214110
HP:0010490	Abnormality of the palmar creases	197131	UBR1	OMIM:243800
HP:0010490	Abnormality of the palmar creases	9578	CDC42BPB	OMIM:619841
HP:0010490	Abnormality of the palmar creases	3020	H3-3A	OMIM:619720
HP:0010490	Abnormality of the palmar creases	10300	KATNB1	OMIM:616212
HP:0010490	Abnormality of the palmar creases	89910	UBE3B	OMIM:244450
HP:0010490	Abnormality of the palmar creases	51506	UFC1	OMIM:618076
HP:0010490	Abnormality of the palmar creases	55790	CSGALNACT1	OMIM:618870
HP:0010490	Abnormality of the palmar creases	4010	LMX1B	ORPHA:495818
HP:0010490	Abnormality of the palmar creases	6812	STXBP1	ORPHA:495818
HP:0010490	Abnormality of the palmar creases	2137	EXTL3	OMIM:617425
HP:0010490	Abnormality of the palmar creases	22858	CILK1	OMIM:612651
HP:0010490	Abnormality of the palmar creases	9382	COG1	OMIM:611209
HP:0010490	Abnormality of the palmar creases	5189	PEX1	OMIM:214100
HP:0010490	Abnormality of the palmar creases	6197	RPS6KA3	OMIM:303600
HP:0010490	Abnormality of the palmar creases	84987	COX14	OMIM:619053
HP:0010490	Abnormality of the palmar creases	57492	ARID1B	OMIM:135900
HP:0010490	Abnormality of the palmar creases	54453	RIN2	OMIM:613075
HP:0010490	Abnormality of the palmar creases	3899	AFF3	OMIM:619297
HP:0010490	Abnormality of the palmar creases	50814	NSDHL	OMIM:308050
HP:0010490	Abnormality of the palmar creases	9968	MED12	ORPHA:93932
HP:0010490	Abnormality of the palmar creases	9968	MED12	OMIM:305450
HP:0010490	Abnormality of the palmar creases	92579	G6PC3	OMIM:612541
HP:0010490	Abnormality of the palmar creases	114034	TOE1	OMIM:614969
HP:0010490	Abnormality of the palmar creases	157680	VPS13B	OMIM:216550
HP:0010490	Abnormality of the palmar creases	7020	TFAP2A	OMIM:113620
HP:0010490	Abnormality of the palmar creases	9896	FIG4	ORPHA:3472
HP:0010490	Abnormality of the palmar creases	9896	FIG4	OMIM:216340
HP:0010490	Abnormality of the palmar creases	55697	VAC14	ORPHA:3472
HP:0010490	Abnormality of the palmar creases	652	BMP4	OMIM:607932
HP:0010490	Abnormality of the palmar creases	5442	POLRMT	OMIM:619743
HP:0010490	Abnormality of the palmar creases	132158	GLYCTK	OMIM:220120
HP:0010490	Abnormality of the palmar creases	23036	ZNF292	OMIM:619188
HP:0010490	Abnormality of the palmar creases	55148	UBR7	OMIM:619189
HP:0010490	Abnormality of the palmar creases	4591	TRIM37	OMIM:253250
HP:0010490	Abnormality of the palmar creases	79813	EHMT1	OMIM:610253
HP:0010490	Abnormality of the palmar creases	55012	PPP2R3C	OMIM:618419
HP:0010490	Abnormality of the palmar creases	1954	MEGF8	OMIM:614976
HP:0010490	Abnormality of the palmar creases	2783	GNB2	OMIM:619503
HP:0010490	Abnormality of the palmar creases	53834	FGFRL1	OMIM:194190
HP:0010490	Abnormality of the palmar creases	1487	CTBP1	OMIM:194190
HP:0010490	Abnormality of the palmar creases	3954	LETM1	OMIM:194190
HP:0010490	Abnormality of the palmar creases	7468	NSD2	OMIM:194190
HP:0010490	Abnormality of the palmar creases	10815	CPLX1	OMIM:194190
HP:0010490	Abnormality of the palmar creases	26040	SETBP1	OMIM:269150
HP:0010490	Abnormality of the palmar creases	727857	BHLHA9	OMIM:609432
HP:0010490	Abnormality of the palmar creases	1802	DPH2	OMIM:620062
HP:0010490	Abnormality of the palmar creases	11285	B4GALT7	OMIM:130070
HP:0010490	Abnormality of the palmar creases	1186	CLCN7	OMIM:618541
HP:0010490	Abnormality of the palmar creases	55768	NGLY1	OMIM:615273
HP:0010490	Abnormality of the palmar creases	1349	COX7B	OMIM:309801
HP:0010490	Abnormality of the palmar creases	3052	HCCS	OMIM:309801
HP:0010490	Abnormality of the palmar creases	54539	NDUFB11	OMIM:309801
HP:0010490	Abnormality of the palmar creases	5190	PEX6	OMIM:614863
HP:0010490	Abnormality of the palmar creases	5828	PEX2	OMIM:614866
HP:0010490	Abnormality of the palmar creases	150468	CKAP2L	OMIM:272440
HP:0010490	Abnormality of the palmar creases	6134	RPL10	ORPHA:459070
HP:0010490	Abnormality of the palmar creases	6134	RPL10	OMIM:300998
HP:0010490	Abnormality of the palmar creases	6134	RPL10	ORPHA:435938
HP:0010490	Abnormality of the palmar creases	55165	CEP55	OMIM:236500
HP:0010490	Abnormality of the palmar creases	8085	KMT2D	OMIM:620186
HP:0010490	Abnormality of the palmar creases	23137	SMC5	OMIM:620185
HP:0010490	Abnormality of the palmar creases	27086	FOXP1	ORPHA:391372
HP:0010490	Abnormality of the palmar creases	388015	RTL1	ORPHA:96334
HP:0010490	Abnormality of the palmar creases	388015	RTL1	ORPHA:254528
HP:0010490	Abnormality of the palmar creases	8788	DLK1	ORPHA:96334
HP:0010490	Abnormality of the palmar creases	8788	DLK1	ORPHA:254528
HP:0010490	Abnormality of the palmar creases	55384	MEG3	ORPHA:96334
HP:0010490	Abnormality of the palmar creases	55384	MEG3	ORPHA:254528
HP:0010490	Abnormality of the palmar creases	6925	TCF4	OMIM:610954
HP:0010490	Abnormality of the palmar creases	6925	TCF4	ORPHA:2896
HP:0010490	Abnormality of the palmar creases	10430	TMEM147	OMIM:620075
HP:0010490	Abnormality of the palmar creases	23483	TGDS	OMIM:616145
HP:0010490	Abnormality of the palmar creases	6611	SMS	OMIM:309583
HP:0010490	Abnormality of the palmar creases	25836	NIPBL	OMIM:122470
HP:0010490	Abnormality of the palmar creases	23219	FBXO28	OMIM:619777
HP:0010490	Abnormality of the palmar creases	2146	EZH2	OMIM:277590
HP:0010490	Abnormality of the palmar creases	2316	FLNA	ORPHA:1826
HP:0010490	Abnormality of the palmar creases	6885	MAP3K7	ORPHA:1826
HP:0010490	Abnormality of the palmar creases	51322	WAC	ORPHA:466950
HP:0010490	Abnormality of the palmar creases	6595	SMARCA2	OMIM:601358
HP:0010490	Abnormality of the palmar creases	29123	ANKRD11	OMIM:148050
HP:0010490	Abnormality of the palmar creases	29123	ANKRD11	ORPHA:2332
HP:0010490	Abnormality of the palmar creases	2702	GJA5	OMIM:612474
HP:0010490	Abnormality of the palmar creases	2703	GJA8	OMIM:612474
HP:0010490	Abnormality of the palmar creases	4208	MEF2C	OMIM:613443
HP:0010490	Abnormality of the palmar creases	55690	PACS1	ORPHA:329224
HP:0010490	Abnormality of the palmar creases	6878	TAF6	OMIM:617126
HP:0010490	Abnormality of the palmar creases	22907	DHX30	OMIM:617804
HP:0010490	Abnormality of the palmar creases	2245	FGD1	ORPHA:915
HP:0010490	Abnormality of the palmar creases	2245	FGD1	OMIM:305400
HP:0010490	Abnormality of the palmar creases	10664	CTCF	OMIM:615502
HP:0010490	Abnormality of the palmar creases	10664	CTCF	ORPHA:363611
HP:0010490	Abnormality of the palmar creases	81603	TRIM8	OMIM:619428
HP:0010490	Abnormality of the palmar creases	9230	RAB11B	OMIM:617807
HP:0010490	Abnormality of the palmar creases	55081	IFT57	OMIM:617927
HP:0010490	Abnormality of the palmar creases	3720	JARID2	OMIM:620098
HP:0010490	Abnormality of the palmar creases	3479	IGF1	ORPHA:73272
HP:0010490	Abnormality of the palmar creases	5193	PEX12	OMIM:266510
HP:0010490	Abnormality of the palmar creases	100151683	RNU4ATAC	OMIM:210710
HP:0010490	Abnormality of the palmar creases	100151683	RNU4ATAC	OMIM:616651
HP:0010490	Abnormality of the palmar creases	1798	DPAGT1	OMIM:608093
HP:0010490	Abnormality of the palmar creases	57122	NUP107	OMIM:618348
HP:0010490	Abnormality of the palmar creases	6418	SET	OMIM:618106
HP:0010490	Abnormality of the palmar creases	5515	PPP2CA	OMIM:618354
HP:0010490	Abnormality of the palmar creases	2623	GATA1	OMIM:190685
HP:0010490	Abnormality of the palmar creases	23030	KDM4B	OMIM:619320
HP:0010490	Abnormality of the palmar creases	2902	GRIN1	OMIM:617820
HP:0010490	Abnormality of the palmar creases	55784	MCTP2	ORPHA:1596
HP:0010490	Abnormality of the palmar creases	23097	CDK19	OMIM:618916
HP:0010490	Abnormality of the palmar creases	9126	SMC3	OMIM:610759
HP:0010490	Abnormality of the palmar creases	4131	MAP1B	OMIM:618918
HP:0010490	Abnormality of the palmar creases	5530	PPP3CA	OMIM:617711
HP:0010490	Abnormality of the palmar creases	80746	TSEN2	OMIM:612389
HP:0010490	Abnormality of the palmar creases	64131	XYLT1	OMIM:615777
HP:0010490	Abnormality of the palmar creases	9361	LONP1	ORPHA:79243
HP:0010490	Abnormality of the palmar creases	5160	PDHA1	ORPHA:79243
HP:0010490	Abnormality of the palmar creases	55764	IFT122	OMIM:218330
HP:0010490	Abnormality of the palmar creases	8604	SLC25A12	OMIM:612949
HP:0010490	Abnormality of the palmar creases	9241	NOG	OMIM:186500
HP:0010490	Abnormality of the palmar creases	22827	PUF60	ORPHA:508488
HP:0010490	Abnormality of the palmar creases	10943	MSL3	OMIM:301032
HP:0010490	Abnormality of the palmar creases	3977	LIFR	OMIM:601559
HP:0010490	Abnormality of the palmar creases	545	ATR	OMIM:210600
HP:0010490	Abnormality of the palmar creases	57187	THOC2	ORPHA:457240
HP:0010490	Abnormality of the palmar creases	57572	DOCK6	OMIM:614219
HP:0010490	Abnormality of the palmar creases	94005	PIGS	OMIM:618143
HP:0010490	Abnormality of the palmar creases	145173	B3GLCT	OMIM:261540
HP:0010490	Abnormality of the palmar creases	6711	SPTBN1	OMIM:619475
HP:0010490	Abnormality of the palmar creases	1387	CREBBP	OMIM:180849
HP:0010490	Abnormality of the palmar creases	2033	EP300	OMIM:180849
HP:0010490	Abnormality of the palmar creases	6938	TCF12	OMIM:615314
HP:0010490	Abnormality of the palmar creases	92002	CCNQ	OMIM:300707
HP:0010490	Abnormality of the palmar creases	91461	PKDCC	OMIM:618821
HP:0010490	Abnormality of the palmar creases	4329	ALDH6A1	OMIM:614105
HP:0010490	Abnormality of the palmar creases	1457	CSNK2A1	OMIM:617062
HP:0010490	Abnormality of the palmar creases	7204	TRIO	OMIM:617061
HP:0010490	Abnormality of the palmar creases	55617	TASP1	OMIM:618950
HP:0010490	Abnormality of the palmar creases	51305	KCNK9	OMIM:612292
HP:0010490	Abnormality of the palmar creases	83737	ITCH	OMIM:613385
HP:0010490	Abnormality of the palmar creases	112752	IFT43	OMIM:617866
HP:0010490	Abnormality of the palmar creases	9702	CEP57	OMIM:614114
HP:0010490	Abnormality of the palmar creases	9373	PLAA	ORPHA:521426
HP:0010490	Abnormality of the palmar creases	9373	PLAA	OMIM:617527
HP:0010490	Abnormality of the palmar creases	64093	SMOC1	OMIM:206920
HP:0010490	Abnormality of the palmar creases	7169	TPM2	OMIM:108120
HP:0010490	Abnormality of the palmar creases	403	ARL3	OMIM:618161
HP:0010490	Abnormality of the palmar creases	8200	GDF5	OMIM:201250
HP:0010490	Abnormality of the palmar creases	1748	DLX4	OMIM:616788
HP:0010490	Abnormality of the palmar creases	1663	DDX11	OMIM:613398
HP:0010490	Abnormality of the palmar creases	2733	GLE1	OMIM:611890
HP:0010490	Abnormality of the palmar creases	738	VPS51	OMIM:618606
HP:0010490	Abnormality of the palmar creases	51594	NBAS	OMIM:614800
HP:0010490	Abnormality of the palmar creases	23299	BICD2	OMIM:618291
HP:0010490	Abnormality of the palmar creases	58499	ZNF462	OMIM:618619
HP:0010490	Abnormality of the palmar creases	113189	CHST14	ORPHA:2953
HP:0010490	Abnormality of the palmar creases	29940	DSE	ORPHA:2953
HP:0010490	Abnormality of the palmar creases	26053	AUTS2	OMIM:615834
HP:0010490	Abnormality of the palmar creases	26053	AUTS2	ORPHA:352490
HP:0010490	Abnormality of the palmar creases	63895	PIEZO2	OMIM:108145
HP:0010490	Abnormality of the palmar creases	8985	PLOD3	OMIM:612394
HP:0010490	Abnormality of the palmar creases	55252	ASXL2	OMIM:617190
HP:0010490	Abnormality of the palmar creases	8036	SHOC2	OMIM:607721
HP:0010490	Abnormality of the palmar creases	65082	VPS33A	ORPHA:505248
HP:0010490	Abnormality of the palmar creases	3190	HNRNPK	OMIM:616580
HP:0010490	Abnormality of the palmar creases	4052	LTBP1	OMIM:619451
HP:0010490	Abnormality of the palmar creases	8558	CDK10	OMIM:617694
HP:0010490	Abnormality of the palmar creases	57479	PRR12	OMIM:619539
HP:0010490	Abnormality of the palmar creases	23545	ATP6V0A2	ORPHA:2834
HP:0010490	Abnormality of the palmar creases	23545	ATP6V0A2	OMIM:278250
HP:0010490	Abnormality of the palmar creases	29957	SLC25A24	OMIM:612289
HP:0010490	Abnormality of the palmar creases	673	BRAF	OMIM:115150
HP:0010490	Abnormality of the palmar creases	673	BRAF	ORPHA:1340
HP:0010490	Abnormality of the palmar creases	673	BRAF	OMIM:613706
HP:0010490	Abnormality of the palmar creases	5604	MAP2K1	ORPHA:1340
HP:0010490	Abnormality of the palmar creases	5605	MAP2K2	ORPHA:1340
HP:0010490	Abnormality of the palmar creases	3845	KRAS	ORPHA:1340
HP:0010490	Abnormality of the palmar creases	83550	GPR101	ORPHA:963
HP:0010490	Abnormality of the palmar creases	9049	AIP	ORPHA:963
HP:0010490	Abnormality of the palmar creases	23384	SPECC1L	OMIM:600251
HP:0010490	Abnormality of the palmar creases	55593	OTUD5	OMIM:301056
HP:0010490	Abnormality of the palmar creases	283209	PGM2L1	OMIM:620191
HP:0010490	Abnormality of the palmar creases	79718	TBL1XR1	OMIM:602342
HP:0010490	Abnormality of the palmar creases	79718	TBL1XR1	ORPHA:487825
HP:0010490	Abnormality of the palmar creases	171023	ASXL1	OMIM:605039
HP:0010490	Abnormality of the palmar creases	10651	MTX2	OMIM:619127
HP:0010490	Abnormality of the palmar creases	80816	ASXL3	OMIM:615485
HP:0010490	Abnormality of the palmar creases	1806	DPYD	ORPHA:1675
HP:0010490	Abnormality of the palmar creases	2475	MTOR	OMIM:616638
HP:0010490	Abnormality of the palmar creases	200734	SPRED2	OMIM:619745
HP:0010490	Abnormality of the palmar creases	526	ATP6V1B2	ORPHA:3473
HP:0010490	Abnormality of the palmar creases	3756	KCNH1	ORPHA:3473
HP:0010490	Abnormality of the palmar creases	3782	KCNN3	ORPHA:3473
HP:0010490	Abnormality of the palmar creases	3265	HRAS	OMIM:218040
HP:0010490	Abnormality of the palmar creases	8241	RBM10	OMIM:311900
HP:0010490	Abnormality of the palmar creases	7291	TWIST1	ORPHA:794
HP:0010490	Abnormality of the palmar creases	2263	FGFR2	ORPHA:794
HP:0010490	Abnormality of the palmar creases	2261	FGFR3	ORPHA:794
HP:0010490	Abnormality of the palmar creases	23476	BRD4	ORPHA:199
HP:0010490	Abnormality of the palmar creases	8243	SMC1A	ORPHA:199
HP:0010490	Abnormality of the palmar creases	55869	HDAC8	ORPHA:199
HP:0010490	Abnormality of the palmar creases	5792	PTPRF	OMIM:616001
HP:0010490	Abnormality of the palmar creases	10908	PNPLA6	ORPHA:2377
HP:0010490	Abnormality of the palmar creases	9894	TELO2	ORPHA:488642
HP:0010490	Abnormality of the palmar creases	9759	HDAC4	ORPHA:1001
HP:0010490	Abnormality of the palmar creases	157570	ESCO2	ORPHA:3103
HP:0010490	Abnormality of the palmar creases	5184	PEPD	ORPHA:742
HP:0010490	Abnormality of the palmar creases	2131	EXT1	ORPHA:502
HP:0010490	Abnormality of the palmar creases	7227	TRPS1	ORPHA:502
HP:0010490	Abnormality of the palmar creases	283989	TSEN54	ORPHA:2524
HP:0010490	Abnormality of the palmar creases	116461	TSEN15	ORPHA:2524
HP:0010490	Abnormality of the palmar creases	79042	TSEN34	ORPHA:2524
HP:0010490	Abnormality of the palmar creases	51091	SEPSECS	ORPHA:2524
HP:0010490	Abnormality of the palmar creases	129563	DIS3L2	ORPHA:2849
HP:0010490	Abnormality of the palmar creases	5818	NECTIN1	ORPHA:3253
HP:0010490	Abnormality of the palmar creases	55670	PEX26	ORPHA:44
HP:0010490	Abnormality of the palmar creases	5824	PEX19	ORPHA:44
HP:0010490	Abnormality of the palmar creases	8504	PEX3	ORPHA:44
HP:0010490	Abnormality of the palmar creases	9409	PEX16	ORPHA:44
HP:0010490	Abnormality of the palmar creases	8799	PEX11B	ORPHA:44
HP:0010490	Abnormality of the palmar creases	5194	PEX13	ORPHA:44
HP:0010490	Abnormality of the palmar creases	5195	PEX14	ORPHA:44
HP:0010490	Abnormality of the palmar creases	5192	PEX10	ORPHA:44
HP:0010490	Abnormality of the palmar creases	9469	CHST3	OMIM:143095
HP:0010490	Abnormality of the palmar creases	7140	TNNT3	ORPHA:1147
HP:0010490	Abnormality of the palmar creases	7136	TNNI2	ORPHA:1147
HP:0010490	Abnormality of the palmar creases	23511	NUP188	OMIM:618804
HP:0010490	Abnormality of the palmar creases	658	BMPR1B	ORPHA:2639
HP:0010490	Abnormality of the palmar creases	4087	SMAD2	OMIM:619657
HP:0010490	Abnormality of the palmar creases	64359	NXN	ORPHA:1507
HP:0010490	Abnormality of the palmar creases	4920	ROR2	ORPHA:1507
HP:0010490	Abnormality of the palmar creases	10225	CD96	ORPHA:1308
HP:0010490	Abnormality of the palmar creases	23522	KAT6B	ORPHA:3047
HP:0010490	Abnormality of the palmar creases	147372	CCBE1	OMIM:235510
HP:0010490	Abnormality of the palmar creases	9496	TBX4	ORPHA:261279
HP:0010490	Abnormality of the palmar creases	1801	DPH1	ORPHA:459061
HP:0010490	Abnormality of the palmar creases	2254	FGF9	ORPHA:3237
HP:0010490	Abnormality of the palmar creases	4927	NUP88	ORPHA:994
HP:0010490	Abnormality of the palmar creases	7846	TUBA1A	ORPHA:994
HP:0010490	Abnormality of the palmar creases	4654	MYOD1	ORPHA:994
HP:0010490	Abnormality of the palmar creases	4593	MUSK	ORPHA:994
HP:0010490	Abnormality of the palmar creases	5913	RAPSN	ORPHA:994
HP:0010490	Abnormality of the palmar creases	6572	SLC18A3	ORPHA:994
HP:0010490	Abnormality of the palmar creases	285489	DOK7	ORPHA:994
HP:0010490	Abnormality of the palmar creases	91252	SLC39A13	ORPHA:157965
HP:0010490	Abnormality of the palmar creases	4621	MYH3	ORPHA:2053
HP:0010490	Abnormality of the palmar creases	259232	NALCN	ORPHA:2053
HP:0010490	Abnormality of the palmar creases	54101	RIPK4	OMIM:263650
HP:0010490	Abnormality of the palmar creases	92949	ADAMTSL1	ORPHA:521445
HP:0010490	Abnormality of the palmar creases	22884	WDR37	OMIM:618652
HP:0010490	Abnormality of the palmar creases	7750	ZMYM2	OMIM:619522
HP:0010490	Abnormality of the palmar creases	7528	YY1	ORPHA:506358
HP:0010496	Hypertrophy of the lower limb	5921	RASA1	ORPHA:90307
HP:0010493	Long metacarpals	91179	SCARF2	OMIM:600920
HP:0010493	Long metacarpals	64324	NSD1	OMIM:117550
HP:0030896	Abnormal gastrointestinal transit time	79827	CLMP	OMIM:615237
HP:0030896	Abnormal gastrointestinal transit time	55107	ANO1	OMIM:620045
HP:0030896	Abnormal gastrointestinal transit time	55898	UNC45A	OMIM:619377
HP:0007440	Generalized hyperpigmentation	4158	MC2R	OMIM:202200
HP:0007440	Generalized hyperpigmentation	4158	MC2R	ORPHA:361
HP:0007440	Generalized hyperpigmentation	30061	SLC40A1	ORPHA:139491
HP:0007440	Generalized hyperpigmentation	1583	CYP11A1	ORPHA:168558
HP:0007440	Generalized hyperpigmentation	1583	CYP11A1	ORPHA:289548
HP:0007440	Generalized hyperpigmentation	5604	MAP2K1	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	5605	MAP2K2	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3845	KRAS	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3845	KRAS	ORPHA:3339
HP:0007440	Generalized hyperpigmentation	673	BRAF	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3643	INSR	ORPHA:2297
HP:0007440	Generalized hyperpigmentation	5080	PAX6	ORPHA:2253
HP:0007440	Generalized hyperpigmentation	51750	RTEL1	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	65057	ACD	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	5073	PARN	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	7015	TERT	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	26277	TINF2	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	1736	DKC1	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	29926	GMPPA	ORPHA:869
HP:0007440	Generalized hyperpigmentation	60684	TRAPPC11	ORPHA:869
HP:0007440	Generalized hyperpigmentation	8086	AAAS	ORPHA:869
HP:0007440	Generalized hyperpigmentation	83550	GPR101	ORPHA:963
HP:0007440	Generalized hyperpigmentation	9049	AIP	ORPHA:963
HP:0007440	Generalized hyperpigmentation	5728	PTEN	ORPHA:744
HP:0007440	Generalized hyperpigmentation	207	AKT1	ORPHA:744
HP:0007440	Generalized hyperpigmentation	3265	HRAS	ORPHA:3071
HP:0007440	Generalized hyperpigmentation	56246	MRAP	ORPHA:361
HP:0007440	Generalized hyperpigmentation	6770	STAR	ORPHA:361
HP:0007440	Generalized hyperpigmentation	23530	NNT	ORPHA:361
HP:0007440	Generalized hyperpigmentation	10587	TXNRD2	ORPHA:361
HP:0007440	Generalized hyperpigmentation	4644	MYO5A	ORPHA:33445
HP:0007440	Generalized hyperpigmentation	10457	GPNMB	OMIM:617920
HP:0007440	Generalized hyperpigmentation	224	ALDH3A2	ORPHA:816
HP:0007440	Generalized hyperpigmentation	57817	HAMP	ORPHA:79230
HP:0007440	Generalized hyperpigmentation	148738	HJV	ORPHA:79230
HP:0007440	Generalized hyperpigmentation	526	ATP6V1B2	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3756	KCNH1	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3782	KCNN3	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3662	IRF4	ORPHA:3452
HP:0007440	Generalized hyperpigmentation	654	BMP6	ORPHA:465508
HP:0007440	Generalized hyperpigmentation	3077	HFE	ORPHA:465508
HP:0007440	Generalized hyperpigmentation	3852	KRT5	ORPHA:158681
HP:0007440	Generalized hyperpigmentation	3852	KRT5	ORPHA:79396
HP:0007440	Generalized hyperpigmentation	3861	KRT14	ORPHA:69087
HP:0007440	Generalized hyperpigmentation	3861	KRT14	ORPHA:79396
HP:0007440	Generalized hyperpigmentation	5422	POLA1	OMIM:301220
HP:0007441	Hyperpigmented/hypopigmented macules	23556	PIGN	ORPHA:280633
HP:0007441	Hyperpigmented/hypopigmented macules	103	ADAR	OMIM:127400
HP:0007441	Hyperpigmented/hypopigmented macules	23328	SASH1	OMIM:127500
HP:0007441	Hyperpigmented/hypopigmented macules	3852	KRT5	OMIM:131960
HP:0000282	Facial edema	9780	PIEZO1	OMIM:616843
HP:0000282	Facial edema	5626	PROP1	ORPHA:226307
HP:0000282	Facial edema	89884	LHX4	ORPHA:226307
HP:0000282	Facial edema	8022	LHX3	ORPHA:226307
HP:0000282	Facial edema	5449	POU1F1	ORPHA:226307
HP:0000282	Facial edema	8820	HESX1	ORPHA:226307
HP:0000282	Facial edema	405753	DUOXA2	ORPHA:95716
HP:0000282	Facial edema	6528	SLC5A5	ORPHA:95716
HP:0000282	Facial edema	7038	TG	ORPHA:95716
HP:0000282	Facial edema	7173	TPO	ORPHA:95716
HP:0000282	Facial edema	389434	IYD	ORPHA:95716
HP:0000282	Facial edema	50506	DUOX2	ORPHA:95716
HP:0000282	Facial edema	9401	RECQL4	ORPHA:221016
HP:0000282	Facial edema	2050	EPHB4	ORPHA:90186
HP:0000282	Facial edema	2050	EPHB4	OMIM:617300
HP:0000282	Facial edema	4758	NEU1	OMIM:256550
HP:0000282	Facial edema	7512	XPNPEP2	ORPHA:100057
HP:0000282	Facial edema	5340	PLG	OMIM:619360
HP:0000282	Facial edema	284	ANGPT1	OMIM:619361
HP:0000282	Facial edema	213	ALB	ORPHA:86816
HP:0000282	Facial edema	84868	HAVCR2	OMIM:618398
HP:0000282	Facial edema	26509	MYOF	OMIM:619366
HP:0000282	Facial edema	64711	HS3ST6	OMIM:619367
HP:0000282	Facial edema	3827	KNG1	OMIM:619363
HP:0000282	Facial edema	710	SERPING1	ORPHA:100050
HP:0000282	Facial edema	7252	TSHB	ORPHA:90674
HP:0000282	Facial edema	2161	F12	OMIM:610618
HP:0000282	Facial edema	64682	ANAPC1	ORPHA:221008
HP:0000282	Facial edema	1277	COL1A1	ORPHA:287
HP:0000282	Facial edema	1289	COL5A1	ORPHA:287
HP:0000282	Facial edema	1290	COL5A2	ORPHA:287
HP:0000282	Facial edema	1009	CDH11	ORPHA:1299
HP:0000282	Facial edema	9509	ADAMTS2	OMIM:225410
HP:0000282	Facial edema	2934	GSN	ORPHA:85448
HP:0000282	Facial edema	7994	KAT6A	OMIM:616268
HP:0000282	Facial edema	22907	DHX30	OMIM:617804
HP:0000282	Facial edema	55315	SLC29A3	ORPHA:168569
HP:0000282	Facial edema	116931	MED12L	OMIM:618872
HP:0000282	Facial edema	54453	RIN2	ORPHA:217335
HP:0000282	Facial edema	55691	FRMD4A	OMIM:616819
HP:0000282	Facial edema	51371	POMP	OMIM:618048
HP:0000282	Facial edema	5692	PSMB4	OMIM:617591
HP:0000282	Facial edema	5698	PSMB9	OMIM:617591
HP:0000282	Facial edema	8425	LTBP4	OMIM:613177
HP:0000282	Facial edema	7132	TNFRSF1A	OMIM:142680
HP:0000282	Facial edema	7132	TNFRSF1A	ORPHA:32960
HP:0000282	Facial edema	6804	STX1A	ORPHA:904
HP:0000282	Facial edema	7461	CLIP2	ORPHA:904
HP:0000282	Facial edema	84277	DNAJC30	ORPHA:904
HP:0000282	Facial edema	8468	FKBP6	ORPHA:904
HP:0000282	Facial edema	5982	RFC2	ORPHA:904
HP:0000282	Facial edema	2969	GTF2I	ORPHA:904
HP:0000282	Facial edema	3984	LIMK1	ORPHA:904
HP:0000282	Facial edema	9569	GTF2IRD1	ORPHA:904
HP:0000282	Facial edema	155382	VPS37D	ORPHA:904
HP:0000282	Facial edema	155368	METTL27	ORPHA:904
HP:0000282	Facial edema	114049	BUD23	ORPHA:904
HP:0000282	Facial edema	7458	EIF4H	ORPHA:904
HP:0000282	Facial edema	84163	GTF2IRD2	ORPHA:904
HP:0000282	Facial edema	9275	BCL7B	ORPHA:904
HP:0000282	Facial edema	26608	TBL2	ORPHA:904
HP:0000282	Facial edema	653361	NCF1	ORPHA:904
HP:0000282	Facial edema	135886	TMEM270	ORPHA:904
HP:0000282	Facial edema	51085	MLXIPL	ORPHA:904
HP:0000282	Facial edema	9031	BAZ1B	ORPHA:904
HP:0000282	Facial edema	2006	ELN	ORPHA:904
HP:0000282	Facial edema	1493	CTLA4	ORPHA:900
HP:0000282	Facial edema	26191	PTPN22	ORPHA:900
HP:0000282	Facial edema	3115	HLA-DPB1	ORPHA:900
HP:0000282	Facial edema	5657	PRTN3	ORPHA:900
HP:0000282	Facial edema	3113	HLA-DPA1	ORPHA:900
HP:0000282	Facial edema	147372	CCBE1	OMIM:235510
HP:0000282	Facial edema	285362	SUMF1	OMIM:272200
HP:0000282	Facial edema	4615	MYD88	ORPHA:33226
HP:0000282	Facial edema	3321	IGSF3	OMIM:149700
HP:0000282	Facial edema	4868	NPHS1	ORPHA:656
HP:0000282	Facial edema	23607	CD2AP	ORPHA:656
HP:0000282	Facial edema	9688	NUP93	ORPHA:656
HP:0000282	Facial edema	4643	MYO1E	ORPHA:656
HP:0000282	Facial edema	64423	INF2	ORPHA:656
HP:0000282	Facial edema	26130	GAPVD1	ORPHA:656
HP:0000282	Facial edema	7490	WT1	ORPHA:656
HP:0000282	Facial edema	57122	NUP107	ORPHA:656
HP:0000282	Facial edema	51479	ANKFY1	ORPHA:656
HP:0000282	Facial edema	54443	ANLN	ORPHA:656
HP:0000282	Facial edema	5800	PTPRO	ORPHA:656
HP:0000282	Facial edema	286204	CRB2	ORPHA:656
HP:0000282	Facial edema	23165	NUP205	ORPHA:656
HP:0000282	Facial edema	2013	EMP2	ORPHA:656
HP:0000282	Facial edema	79023	NUP37	ORPHA:656
HP:0000282	Facial edema	51196	PLCE1	ORPHA:656
HP:0000282	Facial edema	79902	NUP85	ORPHA:656
HP:0000282	Facial edema	1285	COL4A3	ORPHA:656
HP:0000282	Facial edema	396	ARHGDIA	ORPHA:656
HP:0000282	Facial edema	79934	COQ8B	ORPHA:656
HP:0000282	Facial edema	23279	NUP160	ORPHA:656
HP:0000282	Facial edema	9863	MAGI2	ORPHA:656
HP:0000282	Facial edema	81	ACTN4	ORPHA:656
HP:0000282	Facial edema	7225	TRPC6	ORPHA:656
HP:0000282	Facial edema	8542	APOL1	ORPHA:656
HP:0000282	Facial edema	54885	TBC1D8B	ORPHA:656
HP:0000282	Facial edema	7827	NPHS2	ORPHA:656
HP:0000282	Facial edema	83478	ARHGAP24	ORPHA:656
HP:0000282	Facial edema	23500	DAAM2	ORPHA:656
HP:0000282	Facial edema	5076	PAX2	ORPHA:656
HP:0000282	Facial edema	55746	NUP133	ORPHA:656
HP:0000282	Facial edema	54345	SOX18	OMIM:137940
HP:0000282	Facial edema	54345	SOX18	OMIM:607823
HP:0000282	Facial edema	54345	SOX18	ORPHA:69735
HP:0000282	Facial edema	2290	FOXG1	ORPHA:261144
HP:0000282	Facial edema	6711	SPTBN1	OMIM:619475
HP:0000282	Facial edema	85358	SHANK3	ORPHA:48652
HP:0000282	Facial edema	85358	SHANK3	OMIM:606232
HP:0000282	Facial edema	7045	TGFBI	OMIM:608470
HP:0000282	Facial edema	284252	KCTD1	ORPHA:2036
HP:0000282	Facial edema	284252	KCTD1	OMIM:181270
HP:0000282	Facial edema	9326	ZNHIT3	ORPHA:2836
HP:0000282	Facial edema	547	KIF1A	ORPHA:2836
HP:0000282	Facial edema	5828	PEX2	OMIM:614866
HP:0000282	Facial edema	5457	POU4F1	ORPHA:314647
HP:0000282	Facial edema	23261	CAMTA1	ORPHA:314647
HP:0000282	Facial edema	23261	CAMTA1	OMIM:614756
HP:0000282	Facial edema	5830	PEX5	OMIM:214110
HP:0000282	Facial edema	83550	GPR101	ORPHA:963
HP:0000282	Facial edema	9049	AIP	ORPHA:963
HP:0000282	Facial edema	5293	PIK3CD	ORPHA:221139
HP:0000282	Facial edema	90417	KNSTRN	ORPHA:221139
HP:0000282	Facial edema	22947	DUX4L1	ORPHA:269
HP:0000282	Facial edema	1789	DNMT3B	ORPHA:269
HP:0000282	Facial edema	2483	FRG1	ORPHA:269
HP:0000282	Facial edema	23347	SMCHD1	ORPHA:269
HP:0000282	Facial edema	100288687	DUX4	ORPHA:269
HP:0000282	Facial edema	71	ACTG1	ORPHA:2995
HP:0000282	Facial edema	60	ACTB	ORPHA:2995
HP:0000282	Facial edema	11133	KPTN	ORPHA:397612
HP:0000282	Facial edema	84168	ANTXR1	ORPHA:2067
HP:0000282	Facial edema	5723	PSPH	ORPHA:79350
HP:0000282	Facial edema	79158	GNPTAB	OMIM:252500
HP:0000282	Facial edema	57231	SNX14	ORPHA:397709
HP:0000282	Facial edema	55343	SLC35C1	ORPHA:99843
HP:0000283	Broad face	9759	HDAC4	OMIM:600430
HP:0000283	Broad face	5727	PTCH1	OMIM:610828
HP:0000283	Broad face	5727	PTCH1	OMIM:109400
HP:0000283	Broad face	4921	DDR2	OMIM:271665
HP:0000283	Broad face	79718	TBL1XR1	OMIM:602342
HP:0000283	Broad face	7319	UBE2A	OMIM:300860
HP:0000283	Broad face	7552	ZNF711	OMIM:300803
HP:0000283	Broad face	57231	SNX14	OMIM:616354
HP:0000283	Broad face	7043	TGFB3	OMIM:615582
HP:0000283	Broad face	10743	RAI1	OMIM:182290
HP:0000283	Broad face	221927	BRAT1	OMIM:618056
HP:0000283	Broad face	5144	PDE4D	ORPHA:439822
HP:0000283	Broad face	23394	ADNP	OMIM:615873
HP:0000283	Broad face	175	AGA	OMIM:208400
HP:0000283	Broad face	4774	NFIA	OMIM:613735
HP:0000283	Broad face	3425	IDUA	OMIM:607016
HP:0000283	Broad face	2317	FLNB	OMIM:272460
HP:0000283	Broad face	2316	FLNA	OMIM:304120
HP:0000283	Broad face	1759	DNM1	OMIM:620352
HP:0000315	Abnormality of the orbital region	1718	DHCR24	OMIM:602398
HP:0000315	Abnormality of the orbital region	1718	DHCR24	ORPHA:35107
HP:0000315	Abnormality of the orbital region	26235	FBXL4	OMIM:615471
HP:0000315	Abnormality of the orbital region	1139	CHRNA7	ORPHA:199318
HP:0000315	Abnormality of the orbital region	23019	CNOT1	OMIM:618500
HP:0000315	Abnormality of the orbital region	8216	LZTR1	OMIM:616564
HP:0000315	Abnormality of the orbital region	8216	LZTR1	OMIM:605275
HP:0000315	Abnormality of the orbital region	5728	PTEN	OMIM:605309
HP:0000315	Abnormality of the orbital region	6659	SOX4	OMIM:618506
HP:0000315	Abnormality of the orbital region	6016	RIT1	OMIM:615355
HP:0000315	Abnormality of the orbital region	4204	MECP2	ORPHA:1762
HP:0000315	Abnormality of the orbital region	4204	MECP2	OMIM:300260
HP:0000315	Abnormality of the orbital region	51126	NAA20	OMIM:619717
HP:0000315	Abnormality of the orbital region	7360	UGP2	OMIM:618744
HP:0000315	Abnormality of the orbital region	81857	MED25	OMIM:616449
HP:0000315	Abnormality of the orbital region	81857	MED25	ORPHA:464738
HP:0000315	Abnormality of the orbital region	84942	WDR73	OMIM:251300
HP:0000315	Abnormality of the orbital region	5830	PEX5	OMIM:214110
HP:0000315	Abnormality of the orbital region	5830	PEX5	OMIM:202370
HP:0000315	Abnormality of the orbital region	5830	PEX5	ORPHA:912
HP:0000315	Abnormality of the orbital region	51	ACOX1	ORPHA:2971
HP:0000315	Abnormality of the orbital region	79848	CSPP1	ORPHA:397715
HP:0000315	Abnormality of the orbital region	9786	KIAA0586	ORPHA:397715
HP:0000315	Abnormality of the orbital region	3020	H3-3A	OMIM:619720
HP:0000315	Abnormality of the orbital region	51741	WWOX	OMIM:616211
HP:0000315	Abnormality of the orbital region	283489	CHAMP1	OMIM:616579
HP:0000315	Abnormality of the orbital region	51111	KMT5B	OMIM:617788
HP:0000315	Abnormality of the orbital region	2624	GATA2	OMIM:614038
HP:0000315	Abnormality of the orbital region	79639	TMEM53	OMIM:619727
HP:0000315	Abnormality of the orbital region	129563	DIS3L2	ORPHA:2849
HP:0000315	Abnormality of the orbital region	79158	GNPTAB	OMIM:252500
HP:0000315	Abnormality of the orbital region	79158	GNPTAB	ORPHA:576
HP:0000315	Abnormality of the orbital region	57728	WDR19	ORPHA:1515
HP:0000315	Abnormality of the orbital region	57728	WDR19	OMIM:614378
HP:0000315	Abnormality of the orbital region	6023	RMRP	ORPHA:175
HP:0000315	Abnormality of the orbital region	57589	RIC1	OMIM:618761
HP:0000315	Abnormality of the orbital region	9692	PRORP	OMIM:619737
HP:0000315	Abnormality of the orbital region	815	CAMK2A	OMIM:617798
HP:0000315	Abnormality of the orbital region	23545	ATP6V0A2	ORPHA:2834
HP:0000315	Abnormality of the orbital region	23545	ATP6V0A2	OMIM:278250
HP:0000315	Abnormality of the orbital region	10381	TUBB3	ORPHA:300570
HP:0000315	Abnormality of the orbital region	9326	ZNHIT3	ORPHA:2836
HP:0000315	Abnormality of the orbital region	9326	ZNHIT3	OMIM:260565
HP:0000315	Abnormality of the orbital region	547	KIF1A	ORPHA:2836
HP:0000315	Abnormality of the orbital region	2626	GATA4	ORPHA:251071
HP:0000315	Abnormality of the orbital region	1277	COL1A1	ORPHA:287
HP:0000315	Abnormality of the orbital region	1277	COL1A1	ORPHA:1899
HP:0000315	Abnormality of the orbital region	1289	COL5A1	ORPHA:287
HP:0000315	Abnormality of the orbital region	1289	COL5A1	OMIM:130000
HP:0000315	Abnormality of the orbital region	1290	COL5A2	ORPHA:287
HP:0000315	Abnormality of the orbital region	1290	COL5A2	OMIM:130010
HP:0000315	Abnormality of the orbital region	9401	RECQL4	OMIM:218600
HP:0000315	Abnormality of the orbital region	9401	RECQL4	OMIM:268400
HP:0000315	Abnormality of the orbital region	9401	RECQL4	ORPHA:1225
HP:0000315	Abnormality of the orbital region	10087	CERT1	OMIM:616351
HP:0000315	Abnormality of the orbital region	8726	EED	OMIM:617561
HP:0000315	Abnormality of the orbital region	54872	PIGG	ORPHA:280
HP:0000315	Abnormality of the orbital region	7469	NELFA	ORPHA:280
HP:0000315	Abnormality of the orbital region	1487	CTBP1	ORPHA:280
HP:0000315	Abnormality of the orbital region	1487	CTBP1	OMIM:194190
HP:0000315	Abnormality of the orbital region	3954	LETM1	ORPHA:280
HP:0000315	Abnormality of the orbital region	3954	LETM1	OMIM:194190
HP:0000315	Abnormality of the orbital region	4763	NF1	ORPHA:363700
HP:0000315	Abnormality of the orbital region	4763	NF1	OMIM:193520
HP:0000315	Abnormality of the orbital region	4763	NF1	OMIM:601321
HP:0000315	Abnormality of the orbital region	22884	WDR37	OMIM:618652
HP:0000315	Abnormality of the orbital region	1656	DDX6	OMIM:618653
HP:0000315	Abnormality of the orbital region	1501	CTNND2	ORPHA:281
HP:0000315	Abnormality of the orbital region	9037	SEMA5A	ORPHA:281
HP:0000315	Abnormality of the orbital region	5442	POLRMT	OMIM:619743
HP:0000315	Abnormality of the orbital region	80776	B9D2	OMIM:614175
HP:0000315	Abnormality of the orbital region	57178	ZMIZ1	OMIM:618659
HP:0000315	Abnormality of the orbital region	5500	PPP1CB	ORPHA:2701
HP:0000315	Abnormality of the orbital region	5500	PPP1CB	OMIM:617506
HP:0000315	Abnormality of the orbital region	3340	NDST1	OMIM:616116
HP:0000315	Abnormality of the orbital region	55012	PPP2R3C	OMIM:618419
HP:0000315	Abnormality of the orbital region	93627	TBCK	ORPHA:488632
HP:0000315	Abnormality of the orbital region	93627	TBCK	OMIM:616900
HP:0000315	Abnormality of the orbital region	200734	SPRED2	OMIM:619745
HP:0000315	Abnormality of the orbital region	55623	THUMPD1	OMIM:619989
HP:0000315	Abnormality of the orbital region	54345	SOX18	OMIM:137940
HP:0000315	Abnormality of the orbital region	1789	DNMT3B	OMIM:242860
HP:0000315	Abnormality of the orbital region	1789	DNMT3B	ORPHA:2268
HP:0000315	Abnormality of the orbital region	1186	CLCN7	OMIM:618541
HP:0000315	Abnormality of the orbital region	23312	DMXL2	OMIM:618663
HP:0000315	Abnormality of the orbital region	26038	CHD5	OMIM:619873
HP:0000315	Abnormality of the orbital region	1182	CLCN3	OMIM:619512
HP:0000315	Abnormality of the orbital region	23461	ABCA5	OMIM:135400
HP:0000315	Abnormality of the orbital region	54914	FOCAD	OMIM:619991
HP:0000315	Abnormality of the orbital region	9841	ZBTB24	OMIM:614069
HP:0000315	Abnormality of the orbital region	9841	ZBTB24	ORPHA:2268
HP:0000315	Abnormality of the orbital region	3098	HK1	OMIM:618547
HP:0000315	Abnormality of the orbital region	5979	RET	ORPHA:1848
HP:0000315	Abnormality of the orbital region	8516	ITGA8	ORPHA:1848
HP:0000315	Abnormality of the orbital region	26281	FGF20	ORPHA:1848
HP:0000315	Abnormality of the orbital region	2674	GFRA1	ORPHA:1848
HP:0000315	Abnormality of the orbital region	7484	WNT9B	ORPHA:1848
HP:0000315	Abnormality of the orbital region	80000	GREB1L	ORPHA:1848
HP:0000315	Abnormality of the orbital region	5590	PRKCZ	ORPHA:1606
HP:0000315	Abnormality of the orbital region	2563	GABRD	ORPHA:1606
HP:0000315	Abnormality of the orbital region	8510	MMP23B	ORPHA:1606
HP:0000315	Abnormality of the orbital region	7798	LUZP1	ORPHA:1606
HP:0000315	Abnormality of the orbital region	10630	PDPN	ORPHA:1606
HP:0000315	Abnormality of the orbital region	10277	UBE4B	ORPHA:1606
HP:0000315	Abnormality of the orbital region	8514	KCNAB2	ORPHA:1606
HP:0000315	Abnormality of the orbital region	473	RERE	ORPHA:1606
HP:0000315	Abnormality of the orbital region	473	RERE	ORPHA:494344
HP:0000315	Abnormality of the orbital region	473	RERE	OMIM:616975
HP:0000315	Abnormality of the orbital region	63976	PRDM16	ORPHA:1606
HP:0000315	Abnormality of the orbital region	54897	CASZ1	ORPHA:1606
HP:0000315	Abnormality of the orbital region	6134	RPL10	ORPHA:459070
HP:0000315	Abnormality of the orbital region	6134	RPL10	OMIM:300998
HP:0000315	Abnormality of the orbital region	286	ANK1	ORPHA:251066
HP:0000315	Abnormality of the orbital region	85365	ALG2	ORPHA:79326
HP:0000315	Abnormality of the orbital region	85365	ALG2	OMIM:607906
HP:0000315	Abnormality of the orbital region	26137	ZBTB20	OMIM:259050
HP:0000315	Abnormality of the orbital region	54828	BCAS3	OMIM:619641
HP:0000315	Abnormality of the orbital region	56098	PCDHGC4	OMIM:619880
HP:0000315	Abnormality of the orbital region	53335	BCL11A	OMIM:617101
HP:0000315	Abnormality of the orbital region	59336	PRDM13	OMIM:619761
HP:0000315	Abnormality of the orbital region	59336	PRDM13	OMIM:619909
HP:0000315	Abnormality of the orbital region	6942	TCF20	OMIM:618430
HP:0000315	Abnormality of the orbital region	9968	MED12	OMIM:305450
HP:0000315	Abnormality of the orbital region	9968	MED12	OMIM:300895
HP:0000315	Abnormality of the orbital region	2324	FLT4	ORPHA:79452
HP:0000315	Abnormality of the orbital region	57165	GJC2	ORPHA:79452
HP:0000315	Abnormality of the orbital region	5373	PMM2	ORPHA:79318
HP:0000315	Abnormality of the orbital region	57724	EPG5	OMIM:242840
HP:0000315	Abnormality of the orbital region	23556	PIGN	OMIM:614080
HP:0000315	Abnormality of the orbital region	23556	PIGN	ORPHA:280633
HP:0000315	Abnormality of the orbital region	7030	TFE3	OMIM:301066
HP:0000315	Abnormality of the orbital region	2239	GPC4	ORPHA:373
HP:0000315	Abnormality of the orbital region	2239	GPC4	OMIM:312870
HP:0000315	Abnormality of the orbital region	2239	GPC4	ORPHA:2662
HP:0000315	Abnormality of the orbital region	2719	GPC3	ORPHA:373
HP:0000315	Abnormality of the orbital region	2719	GPC3	OMIM:312870
HP:0000315	Abnormality of the orbital region	5286	PIK3C2A	OMIM:618440
HP:0000315	Abnormality of the orbital region	5286	PIK3C2A	ORPHA:557003
HP:0000315	Abnormality of the orbital region	8565	YARS1	OMIM:619418
HP:0000315	Abnormality of the orbital region	84168	ANTXR1	OMIM:230740
HP:0000315	Abnormality of the orbital region	23499	MACF1	OMIM:618325
HP:0000315	Abnormality of the orbital region	1107	CHD3	OMIM:618205
HP:0000315	Abnormality of the orbital region	374969	SVBP	OMIM:618569
HP:0000315	Abnormality of the orbital region	6261	RYR1	ORPHA:324581
HP:0000315	Abnormality of the orbital region	7476	WNT7A	OMIM:276820
HP:0000315	Abnormality of the orbital region	79087	ALG12	ORPHA:79324
HP:0000315	Abnormality of the orbital region	79087	ALG12	OMIM:607143
HP:0000315	Abnormality of the orbital region	9896	FIG4	OMIM:216340
HP:0000315	Abnormality of the orbital region	10195	ALG3	OMIM:601110
HP:0000315	Abnormality of the orbital region	257	ALX3	OMIM:136760
HP:0000315	Abnormality of the orbital region	257	ALX3	ORPHA:391474
HP:0000315	Abnormality of the orbital region	6135	RPL11	ORPHA:124
HP:0000315	Abnormality of the orbital region	6138	RPL15	ORPHA:124
HP:0000315	Abnormality of the orbital region	6229	RPS24	ORPHA:124
HP:0000315	Abnormality of the orbital region	6125	RPL5	ORPHA:124
HP:0000315	Abnormality of the orbital region	6204	RPS10	ORPHA:124
HP:0000315	Abnormality of the orbital region	6224	RPS20	ORPHA:124
HP:0000315	Abnormality of the orbital region	6165	RPL35A	ORPHA:124
HP:0000315	Abnormality of the orbital region	6223	RPS19	ORPHA:124
HP:0000315	Abnormality of the orbital region	6223	RPS19	OMIM:105650
HP:0000315	Abnormality of the orbital region	6232	RPS27	ORPHA:124
HP:0000315	Abnormality of the orbital region	6231	RPS26	ORPHA:124
HP:0000315	Abnormality of the orbital region	11224	RPL35	ORPHA:124
HP:0000315	Abnormality of the orbital region	6160	RPL31	ORPHA:124
HP:0000315	Abnormality of the orbital region	6218	RPS17	ORPHA:124
HP:0000315	Abnormality of the orbital region	6201	RPS7	ORPHA:124
HP:0000315	Abnormality of the orbital region	6155	RPL27	ORPHA:124
HP:0000315	Abnormality of the orbital region	6210	RPS15A	ORPHA:124
HP:0000315	Abnormality of the orbital region	90121	TSR2	ORPHA:124
HP:0000315	Abnormality of the orbital region	6141	RPL18	ORPHA:124
HP:0000315	Abnormality of the orbital region	6235	RPS29	ORPHA:124
HP:0000315	Abnormality of the orbital region	6234	RPS28	ORPHA:124
HP:0000315	Abnormality of the orbital region	6234	RPS28	OMIM:606164
HP:0000315	Abnormality of the orbital region	51816	ADA2	ORPHA:124
HP:0000315	Abnormality of the orbital region	1917	EEF1A2	OMIM:616393
HP:0000315	Abnormality of the orbital region	9742	IFT140	OMIM:266920
HP:0000315	Abnormality of the orbital region	26173	INTS1	OMIM:618571
HP:0000315	Abnormality of the orbital region	51117	COQ4	OMIM:616276
HP:0000315	Abnormality of the orbital region	164	AP1G1	OMIM:619548
HP:0000315	Abnormality of the orbital region	6857	SYT1	OMIM:618218
HP:0000315	Abnormality of the orbital region	6857	SYT1	ORPHA:522077
HP:0000315	Abnormality of the orbital region	6654	SOS1	OMIM:610733
HP:0000315	Abnormality of the orbital region	1801	DPH1	ORPHA:459061
HP:0000315	Abnormality of the orbital region	1801	DPH1	OMIM:616901
HP:0000315	Abnormality of the orbital region	389827	MYMK	OMIM:254940
HP:0000315	Abnormality of the orbital region	389827	MYMK	ORPHA:1358
HP:0000315	Abnormality of the orbital region	84706	GPT2	OMIM:616281
HP:0000315	Abnormality of the orbital region	5898	RALA	OMIM:619311
HP:0000315	Abnormality of the orbital region	6909	TBX2	OMIM:618223
HP:0000315	Abnormality of the orbital region	5351	PLOD1	OMIM:225400
HP:0000315	Abnormality of the orbital region	6477	SIAH1	OMIM:619314
HP:0000315	Abnormality of the orbital region	54517	PUS7	OMIM:618342
HP:0000315	Abnormality of the orbital region	57102	C12orf4	OMIM:618221
HP:0000315	Abnormality of the orbital region	8573	CASK	OMIM:300749
HP:0000315	Abnormality of the orbital region	10785	WDR4	OMIM:618347
HP:0000315	Abnormality of the orbital region	55628	ZNF407	OMIM:619557
HP:0000315	Abnormality of the orbital region	56623	INPP5E	OMIM:213300
HP:0000315	Abnormality of the orbital region	50814	NSDHL	ORPHA:251383
HP:0000315	Abnormality of the orbital region	50814	NSDHL	OMIM:300831
HP:0000315	Abnormality of the orbital region	5515	PPP2CA	OMIM:618354
HP:0000315	Abnormality of the orbital region	26275	HIBCH	ORPHA:88639
HP:0000315	Abnormality of the orbital region	26275	HIBCH	OMIM:250620
HP:0000315	Abnormality of the orbital region	650	BMP2	ORPHA:261295
HP:0000315	Abnormality of the orbital region	5980	REV3L	ORPHA:570
HP:0000315	Abnormality of the orbital region	23129	PLXND1	ORPHA:570
HP:0000315	Abnormality of the orbital region	3039	HBA1	ORPHA:98791
HP:0000315	Abnormality of the orbital region	3040	HBA2	ORPHA:98791
HP:0000315	Abnormality of the orbital region	2334	AFF2	OMIM:309548
HP:0000315	Abnormality of the orbital region	2334	AFF2	ORPHA:100973
HP:0000315	Abnormality of the orbital region	4141	MARS1	OMIM:619692
HP:0000315	Abnormality of the orbital region	4125	MAN2B1	OMIM:248500
HP:0000315	Abnormality of the orbital region	10082	GPC6	OMIM:258315
HP:0000315	Abnormality of the orbital region	9719	ADAMTSL2	ORPHA:1901
HP:0000315	Abnormality of the orbital region	23389	MED13L	ORPHA:369891
HP:0000315	Abnormality of the orbital region	23111	SPART	ORPHA:101000
HP:0000315	Abnormality of the orbital region	5573	PRKAR1A	OMIM:101800
HP:0000315	Abnormality of the orbital region	5573	PRKAR1A	ORPHA:950
HP:0000315	Abnormality of the orbital region	9851	KIAA0753	OMIM:619476
HP:0000315	Abnormality of the orbital region	9851	KIAA0753	ORPHA:2754
HP:0000315	Abnormality of the orbital region	2290	FOXG1	ORPHA:261144
HP:0000315	Abnormality of the orbital region	65250	CPLANE1	OMIM:277170
HP:0000315	Abnormality of the orbital region	65250	CPLANE1	ORPHA:2754
HP:0000315	Abnormality of the orbital region	134218	DNAJC21	OMIM:617052
HP:0000315	Abnormality of the orbital region	5977	DPF2	OMIM:618027
HP:0000315	Abnormality of the orbital region	79005	SCNM1	OMIM:620107
HP:0000315	Abnormality of the orbital region	2132	EXT2	ORPHA:52022
HP:0000315	Abnormality of the orbital region	51317	PHF21A	ORPHA:52022
HP:0000315	Abnormality of the orbital region	11198	SUPT16H	OMIM:619480
HP:0000315	Abnormality of the orbital region	1457	CSNK2A1	OMIM:617062
HP:0000315	Abnormality of the orbital region	7204	TRIO	OMIM:617061
HP:0000315	Abnormality of the orbital region	7204	TRIO	ORPHA:476126
HP:0000315	Abnormality of the orbital region	5290	PIK3CA	OMIM:602501
HP:0000315	Abnormality of the orbital region	2222	FDFT1	OMIM:618156
HP:0000315	Abnormality of the orbital region	57477	SHROOM4	ORPHA:85288
HP:0000315	Abnormality of the orbital region	10220	GDF11	OMIM:619122
HP:0000315	Abnormality of the orbital region	226	ALDOA	OMIM:611881
HP:0000315	Abnormality of the orbital region	8450	CUL4B	ORPHA:85293
HP:0000315	Abnormality of the orbital region	93587	TRMT10A	ORPHA:391408
HP:0000315	Abnormality of the orbital region	84919	PPP1R15B	ORPHA:391408
HP:0000315	Abnormality of the orbital region	84919	PPP1R15B	OMIM:616817
HP:0000315	Abnormality of the orbital region	3090	HIC1	ORPHA:531
HP:0000315	Abnormality of the orbital region	5048	PAFAH1B1	ORPHA:531
HP:0000315	Abnormality of the orbital region	7531	YWHAE	ORPHA:531
HP:0000315	Abnormality of the orbital region	80267	EDEM3	OMIM:619493
HP:0000315	Abnormality of the orbital region	23154	NCDN	OMIM:619373
HP:0000315	Abnormality of the orbital region	84231	TRAF7	OMIM:618164
HP:0000315	Abnormality of the orbital region	89970	RSPRY1	ORPHA:457395
HP:0000315	Abnormality of the orbital region	89970	RSPRY1	OMIM:616723
HP:0000315	Abnormality of the orbital region	51594	NBAS	OMIM:614800
HP:0000315	Abnormality of the orbital region	54187	NANS	OMIM:610442
HP:0000315	Abnormality of the orbital region	3295	HSD17B4	OMIM:261515
HP:0000315	Abnormality of the orbital region	10020	GNE	ORPHA:3166
HP:0000315	Abnormality of the orbital region	10020	GNE	OMIM:269921
HP:0000315	Abnormality of the orbital region	10079	ATP9A	OMIM:620242
HP:0000315	Abnormality of the orbital region	1795	DOCK3	OMIM:618292
HP:0000315	Abnormality of the orbital region	114034	TOE1	ORPHA:284339
HP:0000315	Abnormality of the orbital region	114034	TOE1	OMIM:614969
HP:0000315	Abnormality of the orbital region	9562	MINPP1	ORPHA:284339
HP:0000315	Abnormality of the orbital region	51626	DYNC2LI1	OMIM:617088
HP:0000315	Abnormality of the orbital region	27161	AGO2	OMIM:619149
HP:0000315	Abnormality of the orbital region	4921	DDR2	OMIM:618175
HP:0000315	Abnormality of the orbital region	221927	BRAT1	OMIM:618056
HP:0000315	Abnormality of the orbital region	168667	BMPER	OMIM:608022
HP:0000315	Abnormality of the orbital region	7337	UBE3A	ORPHA:238446
HP:0000315	Abnormality of the orbital region	6309	SC5D	ORPHA:46059
HP:0000315	Abnormality of the orbital region	6309	SC5D	OMIM:607330
HP:0000315	Abnormality of the orbital region	8506	CNTNAP1	OMIM:618186
HP:0000315	Abnormality of the orbital region	5393	EXOSC9	OMIM:618065
HP:0000315	Abnormality of the orbital region	161742	SPRED1	OMIM:611431
HP:0000315	Abnormality of the orbital region	5894	RAF1	OMIM:611554
HP:0000315	Abnormality of the orbital region	5894	RAF1	OMIM:611553
HP:0000315	Abnormality of the orbital region	55112	DYNC2I1	ORPHA:93271
HP:0000315	Abnormality of the orbital region	57560	IFT80	ORPHA:93271
HP:0000315	Abnormality of the orbital region	79659	DYNC2H1	ORPHA:93271
HP:0000315	Abnormality of the orbital region	89891	DYNC2I2	ORPHA:93271
HP:0000315	Abnormality of the orbital region	374654	KIF7	OMIM:200990
HP:0000315	Abnormality of the orbital region	374654	KIF7	ORPHA:2754
HP:0000315	Abnormality of the orbital region	55788	LMBRD1	OMIM:277380
HP:0000315	Abnormality of the orbital region	1717	DHCR7	ORPHA:818
HP:0000315	Abnormality of the orbital region	1717	DHCR7	OMIM:270400
HP:0000315	Abnormality of the orbital region	25782	RAB3GAP2	OMIM:212720
HP:0000315	Abnormality of the orbital region	10225	CD96	OMIM:211750
HP:0000315	Abnormality of the orbital region	10225	CD96	ORPHA:1308
HP:0000315	Abnormality of the orbital region	1301	COL11A1	OMIM:154780
HP:0000315	Abnormality of the orbital region	28958	COA3	OMIM:619058
HP:0000315	Abnormality of the orbital region	9739	SETD1A	OMIM:619056
HP:0000315	Abnormality of the orbital region	7490	WT1	OMIM:194080
HP:0000315	Abnormality of the orbital region	8546	AP3B1	OMIM:608233
HP:0000315	Abnormality of the orbital region	9184	BUB3	ORPHA:1052
HP:0000315	Abnormality of the orbital region	9319	TRIP13	ORPHA:1052
HP:0000315	Abnormality of the orbital region	701	BUB1B	ORPHA:1052
HP:0000315	Abnormality of the orbital region	701	BUB1B	OMIM:257300
HP:0000315	Abnormality of the orbital region	23036	ZNF292	OMIM:619188
HP:0000315	Abnormality of the orbital region	3070	HELLS	ORPHA:2268
HP:0000315	Abnormality of the orbital region	3070	HELLS	OMIM:616911
HP:0000315	Abnormality of the orbital region	83879	CDCA7	ORPHA:2268
HP:0000315	Abnormality of the orbital region	83879	CDCA7	OMIM:616910
HP:0000315	Abnormality of the orbital region	1954	MEGF8	OMIM:614976
HP:0000315	Abnormality of the orbital region	84300	UQCC2	OMIM:615824
HP:0000315	Abnormality of the orbital region	53834	FGFRL1	OMIM:194190
HP:0000315	Abnormality of the orbital region	10522	DEAF1	OMIM:615828
HP:0000315	Abnormality of the orbital region	9653	HS2ST1	OMIM:619194
HP:0000315	Abnormality of the orbital region	10801	SEPTIN9	OMIM:162100
HP:0000315	Abnormality of the orbital region	7025	NR2F1	ORPHA:401777
HP:0000315	Abnormality of the orbital region	7025	NR2F1	OMIM:615722
HP:0000315	Abnormality of the orbital region	51660	MPC1	OMIM:614741
HP:0000315	Abnormality of the orbital region	9508	ADAMTS3	ORPHA:2136
HP:0000315	Abnormality of the orbital region	147372	CCBE1	ORPHA:2136
HP:0000315	Abnormality of the orbital region	147372	CCBE1	OMIM:235510
HP:0000315	Abnormality of the orbital region	6660	SOX5	OMIM:616803
HP:0000315	Abnormality of the orbital region	5828	PEX2	OMIM:614866
HP:0000315	Abnormality of the orbital region	5828	PEX2	ORPHA:912
HP:0000315	Abnormality of the orbital region	6804	STX1A	ORPHA:904
HP:0000315	Abnormality of the orbital region	7461	CLIP2	ORPHA:904
HP:0000315	Abnormality of the orbital region	84277	DNAJC30	ORPHA:904
HP:0000315	Abnormality of the orbital region	8468	FKBP6	ORPHA:904
HP:0000315	Abnormality of the orbital region	5982	RFC2	ORPHA:904
HP:0000315	Abnormality of the orbital region	2969	GTF2I	ORPHA:904
HP:0000315	Abnormality of the orbital region	3984	LIMK1	ORPHA:904
HP:0000315	Abnormality of the orbital region	9569	GTF2IRD1	ORPHA:904
HP:0000315	Abnormality of the orbital region	155382	VPS37D	ORPHA:904
HP:0000315	Abnormality of the orbital region	155368	METTL27	ORPHA:904
HP:0000315	Abnormality of the orbital region	114049	BUD23	ORPHA:904
HP:0000315	Abnormality of the orbital region	7458	EIF4H	ORPHA:904
HP:0000315	Abnormality of the orbital region	84163	GTF2IRD2	ORPHA:904
HP:0000315	Abnormality of the orbital region	9275	BCL7B	ORPHA:904
HP:0000315	Abnormality of the orbital region	26608	TBL2	ORPHA:904
HP:0000315	Abnormality of the orbital region	653361	NCF1	ORPHA:904
HP:0000315	Abnormality of the orbital region	135886	TMEM270	ORPHA:904
HP:0000315	Abnormality of the orbital region	51085	MLXIPL	ORPHA:904
HP:0000315	Abnormality of the orbital region	51085	MLXIPL	OMIM:194050
HP:0000315	Abnormality of the orbital region	9031	BAZ1B	ORPHA:904
HP:0000315	Abnormality of the orbital region	2006	ELN	ORPHA:904
HP:0000315	Abnormality of the orbital region	2006	ELN	OMIM:194050
HP:0000315	Abnormality of the orbital region	285175	UNC80	OMIM:616801
HP:0000315	Abnormality of the orbital region	3211	HOXB1	OMIM:614744
HP:0000315	Abnormality of the orbital region	6329	SCN4A	ORPHA:99735
HP:0000315	Abnormality of the orbital region	8050	PDHX	OMIM:245349
HP:0000315	Abnormality of the orbital region	5594	MAPK1	OMIM:619087
HP:0000315	Abnormality of the orbital region	10430	TMEM147	OMIM:620075
HP:0000315	Abnormality of the orbital region	7355	SLC35A2	OMIM:300896
HP:0000315	Abnormality of the orbital region	10735	STAG2	ORPHA:521258
HP:0000315	Abnormality of the orbital region	8504	PEX3	OMIM:614882
HP:0000315	Abnormality of the orbital region	8504	PEX3	ORPHA:912
HP:0000315	Abnormality of the orbital region	55275	VPS53	OMIM:615851
HP:0000315	Abnormality of the orbital region	2146	EZH2	OMIM:277590
HP:0000315	Abnormality of the orbital region	5824	PEX19	OMIM:614886
HP:0000315	Abnormality of the orbital region	5824	PEX19	ORPHA:912
HP:0000315	Abnormality of the orbital region	50945	TBX22	ORPHA:921
HP:0000315	Abnormality of the orbital region	92154	MTSS2	OMIM:620086
HP:0000315	Abnormality of the orbital region	5631	PRPS1	OMIM:300661
HP:0000315	Abnormality of the orbital region	171023	ASXL1	OMIM:605039
HP:0000315	Abnormality of the orbital region	55023	PHIP	ORPHA:589905
HP:0000315	Abnormality of the orbital region	55023	PHIP	OMIM:617991
HP:0000315	Abnormality of the orbital region	5781	PTPN11	OMIM:151100
HP:0000315	Abnormality of the orbital region	5781	PTPN11	OMIM:163950
HP:0000315	Abnormality of the orbital region	867	CBL	OMIM:613563
HP:0000315	Abnormality of the orbital region	2245	FGD1	ORPHA:915
HP:0000315	Abnormality of the orbital region	1144	CHRND	OMIM:253290
HP:0000315	Abnormality of the orbital region	1134	CHRNA1	OMIM:253290
HP:0000315	Abnormality of the orbital region	196528	ARID2	OMIM:617808
HP:0000315	Abnormality of the orbital region	55670	PEX26	ORPHA:912
HP:0000315	Abnormality of the orbital region	8799	PEX11B	ORPHA:912
HP:0000315	Abnormality of the orbital region	9409	PEX16	ORPHA:912
HP:0000315	Abnormality of the orbital region	5193	PEX12	ORPHA:912
HP:0000315	Abnormality of the orbital region	5194	PEX13	ORPHA:912
HP:0000315	Abnormality of the orbital region	5195	PEX14	ORPHA:912
HP:0000315	Abnormality of the orbital region	5192	PEX10	ORPHA:912
HP:0000315	Abnormality of the orbital region	3720	JARID2	OMIM:620098
HP:0000315	Abnormality of the orbital region	26123	TCTN3	OMIM:258860
HP:0000315	Abnormality of the orbital region	26123	TCTN3	ORPHA:2754
HP:0000315	Abnormality of the orbital region	84627	ZNF469	OMIM:229200
HP:0000315	Abnormality of the orbital region	9780	PIEZO1	OMIM:616843
HP:0000315	Abnormality of the orbital region	1788	DNMT3A	OMIM:615879
HP:0000315	Abnormality of the orbital region	1788	DNMT3A	OMIM:618724
HP:0000315	Abnormality of the orbital region	65062	TMEM237	OMIM:614424
HP:0000315	Abnormality of the orbital region	5859	QARS1	OMIM:615760
HP:0000315	Abnormality of the orbital region	169792	GLIS3	OMIM:610199
HP:0000315	Abnormality of the orbital region	55033	FKBP14	OMIM:614557
HP:0000315	Abnormality of the orbital region	5053	PAH	ORPHA:2209
HP:0000315	Abnormality of the orbital region	4131	MAP1B	OMIM:618918
HP:0000315	Abnormality of the orbital region	101929726	MYMX	ORPHA:1358
HP:0000315	Abnormality of the orbital region	5925	RB1	ORPHA:1587
HP:0000315	Abnormality of the orbital region	23511	NUP188	OMIM:618804
HP:0000315	Abnormality of the orbital region	64131	XYLT1	OMIM:615777
HP:0000315	Abnormality of the orbital region	54806	AHI1	OMIM:608629
HP:0000315	Abnormality of the orbital region	84342	COG8	OMIM:611182
HP:0000315	Abnormality of the orbital region	57511	COG6	OMIM:614576
HP:0000315	Abnormality of the orbital region	83696	TRAPPC9	ORPHA:352530
HP:0000315	Abnormality of the orbital region	7421	VDR	OMIM:277440
HP:0000315	Abnormality of the orbital region	5062	PAK2	ORPHA:1571
HP:0000315	Abnormality of the orbital region	139285	AMER1	ORPHA:2780
HP:0000315	Abnormality of the orbital region	139285	AMER1	OMIM:300373
HP:0000315	Abnormality of the orbital region	55644	OSGEP	OMIM:617729
HP:0000315	Abnormality of the orbital region	9361	LONP1	ORPHA:1458
HP:0000315	Abnormality of the orbital region	6628	SNRPB	OMIM:117650
HP:0000315	Abnormality of the orbital region	10367	MICU1	OMIM:615673
HP:0000315	Abnormality of the orbital region	51002	TPRKB	OMIM:617731
HP:0000315	Abnormality of the orbital region	4329	ALDH6A1	OMIM:614105
HP:0000315	Abnormality of the orbital region	4796	TONSL	ORPHA:93357
HP:0000315	Abnormality of the orbital region	55617	TASP1	OMIM:618950
HP:0000315	Abnormality of the orbital region	6182	MRPL12	OMIM:618951
HP:0000315	Abnormality of the orbital region	55704	CCDC88A	OMIM:617507
HP:0000315	Abnormality of the orbital region	4841	NONO	ORPHA:466791
HP:0000315	Abnormality of the orbital region	9320	TRIP12	OMIM:617752
HP:0000315	Abnormality of the orbital region	26503	SLC17A5	OMIM:269920
HP:0000315	Abnormality of the orbital region	1748	DLX4	OMIM:616788
HP:0000315	Abnormality of the orbital region	1663	DDX11	OMIM:613398
HP:0000315	Abnormality of the orbital region	5455	POU3F3	OMIM:618604
HP:0000315	Abnormality of the orbital region	9757	KMT2B	OMIM:619934
HP:0000315	Abnormality of the orbital region	10210	TOPORS	ORPHA:2754
HP:0000315	Abnormality of the orbital region	5147	PDE6D	ORPHA:2754
HP:0000315	Abnormality of the orbital region	51259	TMEM216	ORPHA:2754
HP:0000315	Abnormality of the orbital region	317662	FAM149B1	ORPHA:2754
HP:0000315	Abnormality of the orbital region	5087	PBX1	OMIM:617641
HP:0000315	Abnormality of the orbital region	6736	SRY	ORPHA:1772
HP:0000315	Abnormality of the orbital region	8449	DHX16	OMIM:618733
HP:0000315	Abnormality of the orbital region	58499	ZNF462	OMIM:618619
HP:0000315	Abnormality of the orbital region	1278	COL1A2	ORPHA:1899
HP:0000315	Abnormality of the orbital region	4313	MMP2	ORPHA:371428
HP:0000315	Abnormality of the orbital region	4323	MMP14	ORPHA:371428
HP:0000315	Abnormality of the orbital region	6843	VAMP1	ORPHA:251282
HP:0000315	Abnormality of the orbital region	1493	CTLA4	ORPHA:2584
HP:0000315	Abnormality of the orbital region	940	CD28	ORPHA:2584
HP:0000315	Abnormality of the orbital region	7133	TNFRSF1B	ORPHA:2584
HP:0000315	Abnormality of the orbital region	340533	NEXMIF	OMIM:300912
HP:0000315	Abnormality of the orbital region	10743	RAI1	ORPHA:477817
HP:0000315	Abnormality of the orbital region	10743	RAI1	ORPHA:1713
HP:0000315	Abnormality of the orbital region	27245	AHDC1	ORPHA:412069
HP:0000315	Abnormality of the orbital region	27245	AHDC1	OMIM:615829
HP:0000315	Abnormality of the orbital region	55904	KMT2E	OMIM:618512
HP:0000315	Abnormality of the orbital region	2590	GALNT2	OMIM:618885
HP:0000315	Abnormality of the orbital region	5528	PPP2R5D	OMIM:616355
HP:0000315	Abnormality of the orbital region	5528	PPP2R5D	ORPHA:457279
HP:0000315	Abnormality of the orbital region	3737	KCNA2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	10991	SLC38A3	ORPHA:442835
HP:0000315	Abnormality of the orbital region	51343	FZR1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	22906	TRAK1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2566	GABRG2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2561	GABRB2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	8831	SYNGAP1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	7532	YWHAG	ORPHA:442835
HP:0000315	Abnormality of the orbital region	79876	UBA5	ORPHA:442835
HP:0000315	Abnormality of the orbital region	6328	SCN3A	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2558	GABRA5	ORPHA:442835
HP:0000315	Abnormality of the orbital region	781	CACNA2D1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2906	GRIN2D	ORPHA:442835
HP:0000315	Abnormality of the orbital region	116150	NUS1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	10659	CELF2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	774	CACNA1B	ORPHA:442835
HP:0000315	Abnormality of the orbital region	1213	CLTC	ORPHA:442835
HP:0000315	Abnormality of the orbital region	51412	ACTL6B	ORPHA:442835
HP:0000315	Abnormality of the orbital region	348980	HCN1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	6506	SLC1A2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	8867	SYNJ1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2258	FGF13	ORPHA:442835
HP:0000315	Abnormality of the orbital region	477	ATP1A2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	3745	KCNB1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	284111	SLC13A5	ORPHA:442835
HP:0000315	Abnormality of the orbital region	25977	NECAP1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	6334	SCN8A	ORPHA:442835
HP:0000315	Abnormality of the orbital region	22866	CNKSR2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	9568	GABBR2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2555	GABRA2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	55152	DALRD3	ORPHA:442835
HP:0000315	Abnormality of the orbital region	4915	NTRK2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	25973	PARS2	ORPHA:442835
HP:0000315	Abnormality of the orbital region	23097	CDK19	ORPHA:442835
HP:0000315	Abnormality of the orbital region	64801	ARV1	ORPHA:442835
HP:0000315	Abnormality of the orbital region	79947	DHDDS	ORPHA:442835
HP:0000315	Abnormality of the orbital region	2257	FGF12	ORPHA:442835
HP:0000315	Abnormality of the orbital region	5530	PPP3CA	ORPHA:442835
HP:0000315	Abnormality of the orbital region	478	ATP1A3	ORPHA:442835
HP:0000315	Abnormality of the orbital region	10716	TBR1	ORPHA:1617
HP:0000315	Abnormality of the orbital region	3476	IGBP1	ORPHA:52055
HP:0000315	Abnormality of the orbital region	3476	IGBP1	OMIM:300472
HP:0000315	Abnormality of the orbital region	5518	PPP2R1A	OMIM:616362
HP:0000315	Abnormality of the orbital region	253738	EBF3	OMIM:617330
HP:0000315	Abnormality of the orbital region	23512	SUZ12	OMIM:618786
HP:0000315	Abnormality of the orbital region	23512	SUZ12	ORPHA:3447
HP:0000315	Abnormality of the orbital region	3590	IL11RA	OMIM:614188
HP:0000315	Abnormality of the orbital region	7862	BRPF1	OMIM:617333
HP:0000315	Abnormality of the orbital region	23126	POGZ	OMIM:616364
HP:0000315	Abnormality of the orbital region	57680	CHD8	OMIM:615032
HP:0000315	Abnormality of the orbital region	3572	IL6ST	OMIM:619750
HP:0000315	Abnormality of the orbital region	145258	GSC	OMIM:602471
HP:0000315	Abnormality of the orbital region	8314	BAP1	OMIM:619762
HP:0000315	Abnormality of the orbital region	259232	NALCN	OMIM:616266
HP:0000315	Abnormality of the orbital region	259232	NALCN	ORPHA:2053
HP:0000315	Abnormality of the orbital region	259232	NALCN	ORPHA:371364
HP:0000315	Abnormality of the orbital region	8813	DPM1	ORPHA:79322
HP:0000315	Abnormality of the orbital region	8813	DPM1	OMIM:608799
HP:0000315	Abnormality of the orbital region	10262	SF3B4	ORPHA:245
HP:0000315	Abnormality of the orbital region	10262	SF3B4	OMIM:154400
HP:0000315	Abnormality of the orbital region	91252	SLC39A13	ORPHA:157965
HP:0000315	Abnormality of the orbital region	91252	SLC39A13	OMIM:612350
HP:0000315	Abnormality of the orbital region	9949	AMMECR1	OMIM:300990
HP:0000315	Abnormality of the orbital region	9949	AMMECR1	ORPHA:86818
HP:0000315	Abnormality of the orbital region	8925	HERC1	OMIM:617011
HP:0000315	Abnormality of the orbital region	8925	HERC1	ORPHA:457359
HP:0000315	Abnormality of the orbital region	56896	DPYSL5	OMIM:619435
HP:0000315	Abnormality of the orbital region	4598	MVK	ORPHA:29
HP:0000315	Abnormality of the orbital region	4598	MVK	OMIM:610377
HP:0000315	Abnormality of the orbital region	10765	KDM5B	OMIM:618109
HP:0000315	Abnormality of the orbital region	5396	PRRX1	OMIM:202650
HP:0000315	Abnormality of the orbital region	6418	SET	OMIM:618106
HP:0000315	Abnormality of the orbital region	7372	UMPS	ORPHA:30
HP:0000315	Abnormality of the orbital region	91754	NEK9	OMIM:617022
HP:0000315	Abnormality of the orbital region	9871	SEC24D	OMIM:616294
HP:0000315	Abnormality of the orbital region	9871	SEC24D	ORPHA:2050
HP:0000315	Abnormality of the orbital region	9342	SNAP29	ORPHA:66631
HP:0000315	Abnormality of the orbital region	9342	SNAP29	OMIM:609528
HP:0000315	Abnormality of the orbital region	83999	KREMEN1	OMIM:617392
HP:0000315	Abnormality of the orbital region	51132	RLIM	OMIM:300978
HP:0000315	Abnormality of the orbital region	201163	FLCN	OMIM:610883
HP:0000315	Abnormality of the orbital region	29920	PYCR2	ORPHA:481152
HP:0000315	Abnormality of the orbital region	29920	PYCR2	OMIM:616420
HP:0000315	Abnormality of the orbital region	92344	GORAB	OMIM:231070
HP:0000315	Abnormality of the orbital region	7136	TNNI2	OMIM:601680
HP:0000315	Abnormality of the orbital region	10524	KAT5	OMIM:619103
HP:0000315	Abnormality of the orbital region	372	ARCN1	OMIM:617164
HP:0000315	Abnormality of the orbital region	633	BGN	OMIM:300989
HP:0000315	Abnormality of the orbital region	22808	MRAS	OMIM:618499
HP:0000315	Abnormality of the orbital region	22808	MRAS	ORPHA:648
HP:0000315	Abnormality of the orbital region	2475	MTOR	ORPHA:457485
HP:0000315	Abnormality of the orbital region	2475	MTOR	OMIM:616638
HP:0000315	Abnormality of the orbital region	6304	SATB1	OMIM:619229
HP:0000315	Abnormality of the orbital region	23594	ORC6	OMIM:613803
HP:0000315	Abnormality of the orbital region	5913	RAPSN	OMIM:618388
HP:0000315	Abnormality of the orbital region	285489	DOK7	OMIM:618389
HP:0000315	Abnormality of the orbital region	285590	SH3PXD2B	ORPHA:137834
HP:0000315	Abnormality of the orbital region	285590	SH3PXD2B	OMIM:249420
HP:0000315	Abnormality of the orbital region	23067	SETD1B	OMIM:619000
HP:0000315	Abnormality of the orbital region	23112	TNRC6B	OMIM:619243
HP:0000315	Abnormality of the orbital region	22995	CEP152	OMIM:613823
HP:0000315	Abnormality of the orbital region	22995	CEP152	ORPHA:808
HP:0000315	Abnormality of the orbital region	4781	NFIB	OMIM:618286
HP:0000315	Abnormality of the orbital region	2733	GLE1	OMIM:611890
HP:0000315	Abnormality of the orbital region	22800	RRAS2	ORPHA:648
HP:0000315	Abnormality of the orbital region	6237	RRAS	ORPHA:648
HP:0000315	Abnormality of the orbital region	6655	SOS2	ORPHA:648
HP:0000315	Abnormality of the orbital region	6655	SOS2	OMIM:616559
HP:0000315	Abnormality of the orbital region	5922	RASA2	ORPHA:648
HP:0000315	Abnormality of the orbital region	84081	NSRP1	OMIM:620001
HP:0000315	Abnormality of the orbital region	9897	WASHC5	ORPHA:7
HP:0000315	Abnormality of the orbital region	9897	WASHC5	OMIM:220210
HP:0000315	Abnormality of the orbital region	28952	CCDC22	ORPHA:7
HP:0000315	Abnormality of the orbital region	80704	SLC19A3	ORPHA:263410
HP:0000315	Abnormality of the orbital region	51109	RDH11	ORPHA:436245
HP:0000315	Abnormality of the orbital region	7042	TGFB2	OMIM:614816
HP:0000315	Abnormality of the orbital region	54084	TSPEAR	OMIM:618180
HP:0000315	Abnormality of the orbital region	324	APC	ORPHA:261584
HP:0000315	Abnormality of the orbital region	324	APC	ORPHA:3258
HP:0000315	Abnormality of the orbital region	1183	CLCN4	OMIM:300114
HP:0000315	Abnormality of the orbital region	5034	P4HB	ORPHA:2050
HP:0000315	Abnormality of the orbital region	23241	PACS2	OMIM:618067
HP:0000315	Abnormality of the orbital region	84282	RNF135	ORPHA:137634
HP:0000315	Abnormality of the orbital region	8854	ALDH1A2	OMIM:620025
HP:0000315	Abnormality of the orbital region	1299	COL9A3	OMIM:620022
HP:0000315	Abnormality of the orbital region	64324	NSD1	ORPHA:821
HP:0000315	Abnormality of the orbital region	64324	NSD1	OMIM:117550
HP:0000315	Abnormality of the orbital region	64324	NSD1	ORPHA:3447
HP:0000315	Abnormality of the orbital region	10297	APC2	ORPHA:821
HP:0000315	Abnormality of the orbital region	23431	AP4E1	OMIM:613744
HP:0000315	Abnormality of the orbital region	150468	CKAP2L	ORPHA:3255
HP:0000315	Abnormality of the orbital region	271	AMPD2	OMIM:615809
HP:0000315	Abnormality of the orbital region	9382	COG1	OMIM:611209
HP:0000315	Abnormality of the orbital region	9382	COG1	ORPHA:263508
HP:0000315	Abnormality of the orbital region	4038	LRP4	ORPHA:3258
HP:0000315	Abnormality of the orbital region	4038	LRP4	OMIM:212780
HP:0000315	Abnormality of the orbital region	4036	LRP2	ORPHA:2143
HP:0000315	Abnormality of the orbital region	4036	LRP2	OMIM:222448
HP:0000315	Abnormality of the orbital region	1302	COL11A2	ORPHA:2021
HP:0000315	Abnormality of the orbital region	657	BMPR1A	ORPHA:79076
HP:0000315	Abnormality of the orbital region	197257	LDHD	OMIM:245450
HP:0000315	Abnormality of the orbital region	55719	SLF2	OMIM:620184
HP:0000315	Abnormality of the orbital region	55027	HEATR3	OMIM:620072
HP:0000315	Abnormality of the orbital region	9652	SKIC3	OMIM:222470
HP:0000315	Abnormality of the orbital region	545	ATR	ORPHA:808
HP:0000315	Abnormality of the orbital region	545	ATR	OMIM:210600
HP:0000315	Abnormality of the orbital region	1062	CENPE	ORPHA:808
HP:0000315	Abnormality of the orbital region	5932	RBBP8	ORPHA:808
HP:0000315	Abnormality of the orbital region	79902	NUP85	ORPHA:808
HP:0000315	Abnormality of the orbital region	84126	ATRIP	ORPHA:808
HP:0000315	Abnormality of the orbital region	55835	CENPJ	ORPHA:808
HP:0000315	Abnormality of the orbital region	10293	TRAIP	ORPHA:808
HP:0000315	Abnormality of the orbital region	84317	CCDC115	OMIM:616828
HP:0000315	Abnormality of the orbital region	83479	DDX59	OMIM:174300
HP:0000315	Abnormality of the orbital region	84679	SLC9A7	OMIM:301024
HP:0000315	Abnormality of the orbital region	90161	HS6ST2	OMIM:301025
HP:0000315	Abnormality of the orbital region	63035	BCORL1	OMIM:301029
HP:0000315	Abnormality of the orbital region	1778	DYNC1H1	OMIM:614563
HP:0000315	Abnormality of the orbital region	2248	FGF3	ORPHA:90024
HP:0000315	Abnormality of the orbital region	5718	PSMD12	ORPHA:529962
HP:0000315	Abnormality of the orbital region	538	ATP7A	ORPHA:198
HP:0000315	Abnormality of the orbital region	8929	PHOX2B	OMIM:209880
HP:0000315	Abnormality of the orbital region	91461	PKDCC	OMIM:618821
HP:0000315	Abnormality of the orbital region	80152	CENPT	OMIM:618702
HP:0000315	Abnormality of the orbital region	26047	CNTNAP2	ORPHA:163681
HP:0000315	Abnormality of the orbital region	23630	KCNE5	ORPHA:86818
HP:0000315	Abnormality of the orbital region	2182	ACSL4	ORPHA:86818
HP:0000315	Abnormality of the orbital region	2273	FHL1	OMIM:300280
HP:0000315	Abnormality of the orbital region	8777	MPDZ	OMIM:615219
HP:0000315	Abnormality of the orbital region	3778	KCNMA1	OMIM:618729
HP:0000315	Abnormality of the orbital region	26229	B3GAT3	OMIM:245600
HP:0000315	Abnormality of the orbital region	5307	PITX1	OMIM:119800
HP:0000315	Abnormality of the orbital region	18	ABAT	OMIM:613163
HP:0000315	Abnormality of the orbital region	7545	ZIC1	OMIM:618736
HP:0000315	Abnormality of the orbital region	4858	NOVA2	OMIM:618859
HP:0000315	Abnormality of the orbital region	55753	OGDHL	OMIM:619701
HP:0000315	Abnormality of the orbital region	348	APOE	ORPHA:158029
HP:0000315	Abnormality of the orbital region	6868	ADAM17	OMIM:614328
HP:0000315	Abnormality of the orbital region	6868	ADAM17	ORPHA:294023
HP:0000315	Abnormality of the orbital region	10095	ARPC1B	OMIM:617718
HP:0000315	Abnormality of the orbital region	6768	ST14	OMIM:602400
HP:0000315	Abnormality of the orbital region	10758	TRAF3IP2	OMIM:615527
HP:0000315	Abnormality of the orbital region	1474	CST6	OMIM:618535
HP:0000315	Abnormality of the orbital region	6307	MSMO1	OMIM:616834
HP:0000315	Abnormality of the orbital region	147409	DSG4	ORPHA:573
HP:0000315	Abnormality of the orbital region	3892	KRT86	ORPHA:573
HP:0000315	Abnormality of the orbital region	3889	KRT83	ORPHA:573
HP:0000315	Abnormality of the orbital region	3887	KRT81	ORPHA:573
HP:0000315	Abnormality of the orbital region	1041	CDSN	ORPHA:90368
HP:0000315	Abnormality of the orbital region	121391	KRT74	ORPHA:90368
HP:0000315	Abnormality of the orbital region	121391	KRT74	OMIM:194300
HP:0000315	Abnormality of the orbital region	121391	KRT74	OMIM:613981
HP:0000315	Abnormality of the orbital region	85378	TUBGCP6	ORPHA:2518
HP:0000315	Abnormality of the orbital region	27229	TUBGCP4	ORPHA:2518
HP:0000315	Abnormality of the orbital region	10733	PLK4	ORPHA:2518
HP:0000315	Abnormality of the orbital region	22947	DUX4L1	ORPHA:269
HP:0000315	Abnormality of the orbital region	2483	FRG1	ORPHA:269
HP:0000315	Abnormality of the orbital region	23347	SMCHD1	ORPHA:269
HP:0000315	Abnormality of the orbital region	100288687	DUX4	ORPHA:269
HP:0000315	Abnormality of the orbital region	124583	CANT1	ORPHA:1425
HP:0000315	Abnormality of the orbital region	55790	CSGALNACT1	ORPHA:1425
HP:0000315	Abnormality of the orbital region	80169	CTC1	ORPHA:1775
HP:0000315	Abnormality of the orbital region	26277	TINF2	ORPHA:1775
HP:0000315	Abnormality of the orbital region	55651	NHP2	ORPHA:1775
HP:0000315	Abnormality of the orbital region	55135	WRAP53	ORPHA:1775
HP:0000315	Abnormality of the orbital region	51750	RTEL1	ORPHA:1775
HP:0000315	Abnormality of the orbital region	4869	NPM1	ORPHA:1775
HP:0000315	Abnormality of the orbital region	7012	TERC	ORPHA:1775
HP:0000315	Abnormality of the orbital region	55505	NOP10	ORPHA:1775
HP:0000315	Abnormality of the orbital region	5073	PARN	ORPHA:1775
HP:0000315	Abnormality of the orbital region	7015	TERT	ORPHA:1775
HP:0000315	Abnormality of the orbital region	7298	TYMS	ORPHA:1775
HP:0000315	Abnormality of the orbital region	355	FAS	ORPHA:3437
HP:0000315	Abnormality of the orbital region	26191	PTPN22	ORPHA:3437
HP:0000315	Abnormality of the orbital region	5333	PLCD1	ORPHA:2387
HP:0000315	Abnormality of the orbital region	427	ASAH1	ORPHA:333
HP:0000315	Abnormality of the orbital region	3861	KRT14	OMIM:125595
HP:0000315	Abnormality of the orbital region	56244	BTNL2	ORPHA:797
HP:0000315	Abnormality of the orbital region	3123	HLA-DRB1	ORPHA:797
HP:0000315	Abnormality of the orbital region	3851	KRT4	OMIM:193900
HP:0000315	Abnormality of the orbital region	2517	FUCA1	OMIM:230000
HP:0000315	Abnormality of the orbital region	55129	ANO10	ORPHA:284289
HP:0000315	Abnormality of the orbital region	55129	ANO10	OMIM:613728
HP:0000315	Abnormality of the orbital region	4668	NAGA	OMIM:609242
HP:0000315	Abnormality of the orbital region	4126	MANBA	OMIM:248510
HP:0000315	Abnormality of the orbital region	10682	EBP	ORPHA:401973
HP:0000315	Abnormality of the orbital region	128	ADH5	OMIM:619151
HP:0000315	Abnormality of the orbital region	7528	YY1	ORPHA:506358
HP:0000315	Abnormality of the orbital region	7528	YY1	OMIM:617557
HP:0000315	Abnormality of the orbital region	23141	ANKLE2	OMIM:616681
HP:0000315	Abnormality of the orbital region	894	CCND2	ORPHA:83473
HP:0000315	Abnormality of the orbital region	10000	AKT3	ORPHA:83473
HP:0000315	Abnormality of the orbital region	56172	ANKH	ORPHA:1522
HP:0000315	Abnormality of the orbital region	3265	HRAS	ORPHA:2612
HP:0000315	Abnormality of the orbital region	4893	NRAS	ORPHA:2612
HP:0000315	Abnormality of the orbital region	26128	KIFBP	OMIM:609460
HP:0000315	Abnormality of the orbital region	23135	KDM6B	OMIM:618505
HP:0000315	Abnormality of the orbital region	57539	WDR35	OMIM:613610
HP:0000315	Abnormality of the orbital region	3008	H1-4	OMIM:617537
HP:0000315	Abnormality of the orbital region	7518	XRCC4	ORPHA:99812
HP:0000315	Abnormality of the orbital region	3981	LIG4	ORPHA:99812
HP:0000315	Abnormality of the orbital region	3981	LIG4	ORPHA:235
HP:0000315	Abnormality of the orbital region	1836	SLC26A2	ORPHA:56304
HP:0000315	Abnormality of the orbital region	4784	NFIX	ORPHA:447980
HP:0000315	Abnormality of the orbital region	2316	FLNA	OMIM:300244
HP:0000315	Abnormality of the orbital region	4281	MID1	OMIM:300000
HP:0000315	Abnormality of the orbital region	4281	MID1	ORPHA:2745
HP:0000315	Abnormality of the orbital region	2737	GLI3	ORPHA:380
HP:0000315	Abnormality of the orbital region	2317	FLNB	ORPHA:1190
HP:0000315	Abnormality of the orbital region	4010	LMX1B	ORPHA:495818
HP:0000315	Abnormality of the orbital region	6812	STXBP1	ORPHA:495818
HP:0000315	Abnormality of the orbital region	6197	RPS6KA3	OMIM:303600
HP:0000315	Abnormality of the orbital region	79029	AFG2B	OMIM:619616
HP:0000315	Abnormality of the orbital region	284252	KCTD1	ORPHA:2036
HP:0000315	Abnormality of the orbital region	284252	KCTD1	OMIM:181270
HP:0000315	Abnormality of the orbital region	546	ATRX	ORPHA:847
HP:0000315	Abnormality of the orbital region	7020	TFAP2A	OMIM:113620
HP:0000315	Abnormality of the orbital region	1281	COL3A1	ORPHA:286
HP:0000315	Abnormality of the orbital region	9839	ZEB2	ORPHA:261552
HP:0000315	Abnormality of the orbital region	9839	ZEB2	ORPHA:261537
HP:0000315	Abnormality of the orbital region	6885	MAP3K7	OMIM:157800
HP:0000315	Abnormality of the orbital region	55148	UBR7	OMIM:619189
HP:0000315	Abnormality of the orbital region	26005	C2CD3	OMIM:615948
HP:0000315	Abnormality of the orbital region	26005	C2CD3	ORPHA:434179
HP:0000315	Abnormality of the orbital region	3192	HNRNPU	ORPHA:238769
HP:0000315	Abnormality of the orbital region	54888	NSUN2	ORPHA:235
HP:0000315	Abnormality of the orbital region	54888	NSUN2	OMIM:611091
HP:0000315	Abnormality of the orbital region	1947	EFNB1	OMIM:304110
HP:0000315	Abnormality of the orbital region	8558	CDK10	OMIM:617694
HP:0000315	Abnormality of the orbital region	23259	DDHD2	OMIM:615033
HP:0000315	Abnormality of the orbital region	9091	PIGQ	OMIM:618548
HP:0000315	Abnormality of the orbital region	79796	ALG9	ORPHA:79328
HP:0000315	Abnormality of the orbital region	79796	ALG9	OMIM:263210
HP:0000315	Abnormality of the orbital region	4286	MITF	OMIM:193510
HP:0000315	Abnormality of the orbital region	4286	MITF	ORPHA:897
HP:0000315	Abnormality of the orbital region	4286	MITF	ORPHA:895
HP:0000315	Abnormality of the orbital region	7750	ZMYM2	OMIM:619522
HP:0000315	Abnormality of the orbital region	51098	IFT52	OMIM:617102
HP:0000315	Abnormality of the orbital region	113179	ADAT3	OMIM:615286
HP:0000315	Abnormality of the orbital region	113179	ADAT3	ORPHA:363528
HP:0000315	Abnormality of the orbital region	92002	CCNQ	ORPHA:140952
HP:0000315	Abnormality of the orbital region	92002	CCNQ	OMIM:300707
HP:0000315	Abnormality of the orbital region	8481	OFD1	OMIM:311200
HP:0000315	Abnormality of the orbital region	8481	OFD1	ORPHA:2750
HP:0000315	Abnormality of the orbital region	57688	ZSWIM6	OMIM:603671
HP:0000315	Abnormality of the orbital region	57688	ZSWIM6	ORPHA:1827
HP:0000315	Abnormality of the orbital region	5727	PTCH1	ORPHA:377
HP:0000315	Abnormality of the orbital region	8643	PTCH2	ORPHA:377
HP:0000315	Abnormality of the orbital region	51684	SUFU	ORPHA:377
HP:0000315	Abnormality of the orbital region	5295	PIK3R1	OMIM:269880
HP:0000315	Abnormality of the orbital region	5295	PIK3R1	ORPHA:3163
HP:0000315	Abnormality of the orbital region	54941	RNF125	OMIM:616260
HP:0000315	Abnormality of the orbital region	5077	PAX3	OMIM:193500
HP:0000315	Abnormality of the orbital region	5077	PAX3	ORPHA:896
HP:0000315	Abnormality of the orbital region	5077	PAX3	OMIM:148820
HP:0000315	Abnormality of the orbital region	5077	PAX3	ORPHA:894
HP:0000315	Abnormality of the orbital region	5077	PAX3	OMIM:122880
HP:0000315	Abnormality of the orbital region	112752	IFT43	OMIM:614099
HP:0000315	Abnormality of the orbital region	51013	EXOSC1	OMIM:619304
HP:0000315	Abnormality of the orbital region	6497	SKI	ORPHA:2462
HP:0000315	Abnormality of the orbital region	6497	SKI	OMIM:182212
HP:0000315	Abnormality of the orbital region	55593	OTUD5	OMIM:301056
HP:0000315	Abnormality of the orbital region	5308	PITX2	ORPHA:782
HP:0000315	Abnormality of the orbital region	2296	FOXC1	ORPHA:782
HP:0000315	Abnormality of the orbital region	128869	PIGU	OMIM:618590
HP:0000315	Abnormality of the orbital region	4854	NOTCH3	OMIM:130720
HP:0000315	Abnormality of the orbital region	57520	HECW2	OMIM:617268
HP:0000315	Abnormality of the orbital region	117581	TWIST2	ORPHA:1231
HP:0000315	Abnormality of the orbital region	117581	TWIST2	OMIM:209885
HP:0000315	Abnormality of the orbital region	1908	EDN3	ORPHA:897
HP:0000315	Abnormality of the orbital region	1910	EDNRB	ORPHA:897
HP:0000315	Abnormality of the orbital region	1910	EDNRB	ORPHA:895
HP:0000315	Abnormality of the orbital region	6663	SOX10	ORPHA:897
HP:0000315	Abnormality of the orbital region	6663	SOX10	ORPHA:163746
HP:0000315	Abnormality of the orbital region	6663	SOX10	ORPHA:895
HP:0000315	Abnormality of the orbital region	3417	IDH1	ORPHA:99646
HP:0000315	Abnormality of the orbital region	4621	MYH3	OMIM:193700
HP:0000315	Abnormality of the orbital region	4621	MYH3	ORPHA:2990
HP:0000315	Abnormality of the orbital region	10265	IRX5	OMIM:611174
HP:0000315	Abnormality of the orbital region	7468	NSD2	OMIM:619695
HP:0000315	Abnormality of the orbital region	29940	DSE	OMIM:615539
HP:0000315	Abnormality of the orbital region	1312	COMT	ORPHA:567
HP:0000315	Abnormality of the orbital region	221037	JMJD1C	ORPHA:567
HP:0000315	Abnormality of the orbital region	2812	GP1BB	ORPHA:567
HP:0000315	Abnormality of the orbital region	6239	RREB1	ORPHA:567
HP:0000315	Abnormality of the orbital region	7290	HIRA	ORPHA:567
HP:0000315	Abnormality of the orbital region	9632	SEC24C	ORPHA:567
HP:0000315	Abnormality of the orbital region	7353	UFD1	ORPHA:567
HP:0000315	Abnormality of the orbital region	421	ARVCF	ORPHA:567
HP:0000315	Abnormality of the orbital region	1000	CDH2	OMIM:618929
HP:0000315	Abnormality of the orbital region	55764	IFT122	OMIM:218330
HP:0000315	Abnormality of the orbital region	10943	MSL3	OMIM:301032
HP:0000315	Abnormality of the orbital region	9509	ADAMTS2	OMIM:225410
HP:0000315	Abnormality of the orbital region	5745	PTH1R	ORPHA:50945
HP:0000315	Abnormality of the orbital region	9419	CRIPT	OMIM:615789
HP:0000315	Abnormality of the orbital region	9343	EFTUD2	OMIM:610536
HP:0000315	Abnormality of the orbital region	9343	EFTUD2	ORPHA:79113
HP:0000315	Abnormality of the orbital region	11285	B4GALT7	ORPHA:75496
HP:0000315	Abnormality of the orbital region	80036	TRPM3	OMIM:620224
HP:0000315	Abnormality of the orbital region	80781	COL18A1	OMIM:267750
HP:0000315	Abnormality of the orbital region	113189	CHST14	OMIM:601776
HP:0000315	Abnormality of the orbital region	51715	RAB23	OMIM:201000
HP:0000315	Abnormality of the orbital region	114928	GPRASP2	OMIM:301018
HP:0000315	Abnormality of the orbital region	202018	TAPT1	OMIM:616897
HP:0000315	Abnormality of the orbital region	2890	GRIA1	OMIM:619927
HP:0000315	Abnormality of the orbital region	7299	TYR	ORPHA:895
HP:0000315	Abnormality of the orbital region	6591	SNAI2	ORPHA:895
HP:0000315	Abnormality of the orbital region	4254	KITLG	ORPHA:895
HP:0000315	Abnormality of the orbital region	4254	KITLG	OMIM:619947
HP:0000315	Abnormality of the orbital region	403	ARL3	OMIM:618161
HP:0000315	Abnormality of the orbital region	10084	PQBP1	OMIM:309500
HP:0000315	Abnormality of the orbital region	55733	HHAT	ORPHA:1422
HP:0000315	Abnormality of the orbital region	170692	ADAMTS18	OMIM:615458
HP:0000315	Abnormality of the orbital region	10584	COLEC10	ORPHA:293843
HP:0000315	Abnormality of the orbital region	78989	COLEC11	ORPHA:293843
HP:0000315	Abnormality of the orbital region	1146	CHRNG	ORPHA:2990
HP:0000315	Abnormality of the orbital region	4750	NEK1	ORPHA:2751
HP:0000315	Abnormality of the orbital region	11011	TLK2	OMIM:618050
HP:0000315	Abnormality of the orbital region	129285	PPP1R21	OMIM:619383
HP:0000315	Abnormality of the orbital region	23102	TBC1D2B	ORPHA:397973
HP:0000315	Abnormality of the orbital region	84148	KAT8	OMIM:618974
HP:0000315	Abnormality of the orbital region	4654	MYOD1	OMIM:618975
HP:0000315	Abnormality of the orbital region	2108	ETFA	OMIM:231680
HP:0000315	Abnormality of the orbital region	2109	ETFB	OMIM:231680
HP:0000315	Abnormality of the orbital region	2110	ETFDH	OMIM:231680
HP:0000315	Abnormality of the orbital region	10804	GJB6	ORPHA:477
HP:0000315	Abnormality of the orbital region	10804	GJB6	OMIM:129500
HP:0000315	Abnormality of the orbital region	2706	GJB2	ORPHA:477
HP:0000315	Abnormality of the orbital region	695	BTK	OMIM:300755
HP:0000315	Abnormality of the orbital region	695	BTK	ORPHA:47
HP:0000315	Abnormality of the orbital region	695	BTK	OMIM:307200
HP:0000315	Abnormality of the orbital region	930	CD19	OMIM:613493
HP:0000315	Abnormality of the orbital region	930	CD19	OMIM:240500
HP:0000315	Abnormality of the orbital region	114548	NLRP3	OMIM:617772
HP:0000315	Abnormality of the orbital region	114548	NLRP3	OMIM:191900
HP:0000315	Abnormality of the orbital region	114548	NLRP3	ORPHA:575
HP:0000315	Abnormality of the orbital region	114548	NLRP3	ORPHA:47045
HP:0000315	Abnormality of the orbital region	114548	NLRP3	OMIM:120100
HP:0000315	Abnormality of the orbital region	987	LRBA	OMIM:614700
HP:0000315	Abnormality of the orbital region	7454	WAS	ORPHA:906
HP:0000315	Abnormality of the orbital region	7456	WIPF1	ORPHA:906
HP:0000315	Abnormality of the orbital region	1736	DKC1	OMIM:305000
HP:0000315	Abnormality of the orbital region	1776	DNASE1L3	ORPHA:36412
HP:0000315	Abnormality of the orbital region	2778	GNAS	ORPHA:94089
HP:0000315	Abnormality of the orbital region	2778	GNAS	ORPHA:79443
HP:0000315	Abnormality of the orbital region	2778	GNAS	ORPHA:79444
HP:0000315	Abnormality of the orbital region	8675	STX16	ORPHA:94089
HP:0000315	Abnormality of the orbital region	1161	ERCC8	ORPHA:90321
HP:0000315	Abnormality of the orbital region	1161	ERCC8	ORPHA:90322
HP:0000315	Abnormality of the orbital region	2074	ERCC6	ORPHA:90321
HP:0000315	Abnormality of the orbital region	2074	ERCC6	ORPHA:90322
HP:0000315	Abnormality of the orbital region	2074	ERCC6	OMIM:278800
HP:0000315	Abnormality of the orbital region	79650	USB1	OMIM:604173
HP:0000315	Abnormality of the orbital region	2067	ERCC1	ORPHA:90322
HP:0000315	Abnormality of the orbital region	3507	IGHM	OMIM:601495
HP:0000315	Abnormality of the orbital region	3507	IGHM	ORPHA:33110
HP:0000315	Abnormality of the orbital region	55630	SLC39A4	ORPHA:37
HP:0000315	Abnormality of the orbital region	8676	STX11	OMIM:603552
HP:0000315	Abnormality of the orbital region	5896	RAG1	OMIM:601457
HP:0000315	Abnormality of the orbital region	5897	RAG2	OMIM:601457
HP:0000315	Abnormality of the orbital region	3106	HLA-B	ORPHA:29207
HP:0000315	Abnormality of the orbital region	3106	HLA-B	ORPHA:36426
HP:0000315	Abnormality of the orbital region	1294	COL7A1	OMIM:226600
HP:0000315	Abnormality of the orbital region	4312	MMP1	OMIM:226600
HP:0000315	Abnormality of the orbital region	162	AP1B1	OMIM:242150
HP:0000315	Abnormality of the orbital region	5075	PAX1	OMIM:615560
HP:0000315	Abnormality of the orbital region	974	CD79B	OMIM:612692
HP:0000315	Abnormality of the orbital region	974	CD79B	ORPHA:33110
HP:0000315	Abnormality of the orbital region	5429	POLH	OMIM:278750
HP:0000315	Abnormality of the orbital region	5340	PLG	OMIM:217090
HP:0000315	Abnormality of the orbital region	7132	TNFRSF1A	ORPHA:32960
HP:0000315	Abnormality of the orbital region	7132	TNFRSF1A	OMIM:142680
HP:0000315	Abnormality of the orbital region	7086	TKT	ORPHA:488618
HP:0000315	Abnormality of the orbital region	29851	ICOS	OMIM:607594
HP:0000315	Abnormality of the orbital region	29851	ICOS	OMIM:240500
HP:0000315	Abnormality of the orbital region	10320	IKZF1	ORPHA:36426
HP:0000315	Abnormality of the orbital region	23495	TNFRSF13B	OMIM:240500
HP:0000315	Abnormality of the orbital region	115650	TNFRSF13C	OMIM:240500
HP:0000315	Abnormality of the orbital region	1380	CR2	OMIM:240500
HP:0000315	Abnormality of the orbital region	55612	FERMT1	ORPHA:2908
HP:0000315	Abnormality of the orbital region	5692	PSMB4	OMIM:617591
HP:0000315	Abnormality of the orbital region	5698	PSMB9	OMIM:617591
HP:0000315	Abnormality of the orbital region	7037	TFRC	OMIM:616740
HP:0000315	Abnormality of the orbital region	686	BTD	OMIM:253260
HP:0000315	Abnormality of the orbital region	686	BTD	ORPHA:79241
HP:0000315	Abnormality of the orbital region	2077	ERF	ORPHA:207
HP:0000315	Abnormality of the orbital region	404672	GTF2H5	ORPHA:33364
HP:0000315	Abnormality of the orbital region	833	CARS1	ORPHA:33364
HP:0000315	Abnormality of the orbital region	7737	RNF113A	ORPHA:33364
HP:0000315	Abnormality of the orbital region	136647	MPLKIP	ORPHA:33364
HP:0000315	Abnormality of the orbital region	6897	TARS1	ORPHA:33364
HP:0000315	Abnormality of the orbital region	2961	GTF2E2	ORPHA:33364
HP:0000315	Abnormality of the orbital region	2303	FOXC2	ORPHA:33001
HP:0000315	Abnormality of the orbital region	2303	FOXC2	OMIM:153400
HP:0000315	Abnormality of the orbital region	54809	SAMD9	OMIM:610455
HP:0000315	Abnormality of the orbital region	5696	PSMB8	OMIM:256040
HP:0000315	Abnormality of the orbital region	6929	TCF3	ORPHA:33110
HP:0000315	Abnormality of the orbital region	973	CD79A	ORPHA:33110
HP:0000315	Abnormality of the orbital region	3543	IGLL1	ORPHA:33110
HP:0000315	Abnormality of the orbital region	29760	BLNK	ORPHA:33110
HP:0000315	Abnormality of the orbital region	56262	LRRC8A	ORPHA:33110
HP:0000315	Abnormality of the orbital region	94	ACVRL1	OMIM:600376
HP:0000315	Abnormality of the orbital region	94	ACVRL1	ORPHA:774
HP:0000315	Abnormality of the orbital region	2658	GDF2	ORPHA:774
HP:0000315	Abnormality of the orbital region	2022	ENG	ORPHA:774
HP:0000315	Abnormality of the orbital region	2022	ENG	OMIM:187300
HP:0000315	Abnormality of the orbital region	3978	LIG1	OMIM:619774
HP:0000315	Abnormality of the orbital region	23328	SASH1	OMIM:618373
HP:0000315	Abnormality of the orbital region	4683	NBN	OMIM:251260
HP:0000315	Abnormality of the orbital region	5648	MASP1	OMIM:257920
HP:0000315	Abnormality of the orbital region	472	ATM	OMIM:208900
HP:0000315	Abnormality of the orbital region	23064	SETX	OMIM:606002
HP:0000315	Abnormality of the orbital region	5190	PEX6	ORPHA:95433
HP:0000315	Abnormality of the orbital region	165918	RNF168	ORPHA:420741
HP:0000315	Abnormality of the orbital region	5111	PCNA	OMIM:615919
HP:0000315	Abnormality of the orbital region	5476	CTSA	OMIM:256540
HP:0000315	Abnormality of the orbital region	2717	GLA	ORPHA:324
HP:0000315	Abnormality of the orbital region	2068	ERCC2	ORPHA:910
HP:0000315	Abnormality of the orbital region	7507	XPA	ORPHA:910
HP:0000315	Abnormality of the orbital region	2071	ERCC3	ORPHA:910
HP:0000315	Abnormality of the orbital region	7508	XPC	ORPHA:910
HP:0000315	Abnormality of the orbital region	1643	DDB2	ORPHA:910
HP:0000315	Abnormality of the orbital region	2073	ERCC5	ORPHA:910
HP:0000315	Abnormality of the orbital region	2776	GNAQ	ORPHA:3205
HP:0000315	Abnormality of the orbital region	8243	SMC1A	OMIM:300590
HP:0000315	Abnormality of the orbital region	8243	SMC1A	ORPHA:199
HP:0000315	Abnormality of the orbital region	8036	SHOC2	OMIM:607721
HP:0000315	Abnormality of the orbital region	11253	MAN1B1	ORPHA:397941
HP:0000315	Abnormality of the orbital region	9853	RUSC2	OMIM:617773
HP:0000315	Abnormality of the orbital region	6228	RPS23	OMIM:617412
HP:0000315	Abnormality of the orbital region	4897	NRCAM	OMIM:619833
HP:0000315	Abnormality of the orbital region	10586	MAB21L2	OMIM:615877
HP:0000315	Abnormality of the orbital region	10274	STAG1	ORPHA:502434
HP:0000315	Abnormality of the orbital region	85358	SHANK3	OMIM:606232
HP:0000315	Abnormality of the orbital region	85358	SHANK3	ORPHA:48652
HP:0000315	Abnormality of the orbital region	27125	AFF4	ORPHA:444077
HP:0000315	Abnormality of the orbital region	27125	AFF4	OMIM:616368
HP:0000315	Abnormality of the orbital region	55869	HDAC8	OMIM:300882
HP:0000315	Abnormality of the orbital region	55869	HDAC8	ORPHA:199
HP:0000315	Abnormality of the orbital region	10847	SRCAP	OMIM:136140
HP:0000315	Abnormality of the orbital region	1436	CSF1R	OMIM:618476
HP:0000315	Abnormality of the orbital region	9578	CDC42BPB	OMIM:619841
HP:0000315	Abnormality of the orbital region	29998	BICRA	OMIM:619325
HP:0000315	Abnormality of the orbital region	80816	ASXL3	OMIM:615485
HP:0000315	Abnormality of the orbital region	6536	SLC6A9	OMIM:617301
HP:0000315	Abnormality of the orbital region	51506	UFC1	OMIM:618076
HP:0000315	Abnormality of the orbital region	9442	MED27	OMIM:619286
HP:0000315	Abnormality of the orbital region	65082	VPS33A	OMIM:617303
HP:0000315	Abnormality of the orbital region	65082	VPS33A	ORPHA:505248
HP:0000315	Abnormality of the orbital region	526	ATP6V1B2	OMIM:616455
HP:0000315	Abnormality of the orbital region	526	ATP6V1B2	ORPHA:3473
HP:0000315	Abnormality of the orbital region	55690	PACS1	OMIM:615009
HP:0000315	Abnormality of the orbital region	55690	PACS1	ORPHA:329224
HP:0000315	Abnormality of the orbital region	4081	MAB21L1	OMIM:618479
HP:0000315	Abnormality of the orbital region	2250	FGF5	OMIM:190330
HP:0000315	Abnormality of the orbital region	10908	PNPLA6	OMIM:275400
HP:0000315	Abnormality of the orbital region	3764	KCNJ8	ORPHA:1517
HP:0000315	Abnormality of the orbital region	10060	ABCC9	ORPHA:1517
HP:0000315	Abnormality of the orbital region	10060	ABCC9	OMIM:239850
HP:0000315	Abnormality of the orbital region	9126	SMC3	OMIM:610759
HP:0000315	Abnormality of the orbital region	9126	SMC3	ORPHA:199
HP:0000315	Abnormality of the orbital region	55777	MBD5	OMIM:156200
HP:0000315	Abnormality of the orbital region	23221	RHOBTB2	OMIM:618004
HP:0000315	Abnormality of the orbital region	57492	ARID1B	OMIM:135900
HP:0000315	Abnormality of the orbital region	1956	EGFR	OMIM:616069
HP:0000315	Abnormality of the orbital region	6601	SMARCC2	OMIM:618362
HP:0000315	Abnormality of the orbital region	4052	LTBP1	OMIM:619451
HP:0000315	Abnormality of the orbital region	8260	NAA10	OMIM:300855
HP:0000315	Abnormality of the orbital region	80204	FBXO11	OMIM:618089
HP:0000315	Abnormality of the orbital region	5119	CHMP1A	OMIM:614961
HP:0000315	Abnormality of the orbital region	55603	TENT5A	OMIM:617952
HP:0000315	Abnormality of the orbital region	4853	NOTCH2	OMIM:102500
HP:0000315	Abnormality of the orbital region	8289	ARID1A	OMIM:614607
HP:0000315	Abnormality of the orbital region	2200	FBN1	ORPHA:969
HP:0000315	Abnormality of the orbital region	2200	FBN1	OMIM:102370
HP:0000315	Abnormality of the orbital region	4054	LTBP3	ORPHA:969
HP:0000315	Abnormality of the orbital region	6598	SMARCB1	OMIM:614608
HP:0000315	Abnormality of the orbital region	6597	SMARCA4	OMIM:614609
HP:0000315	Abnormality of the orbital region	9377	COX5A	OMIM:619064
HP:0000315	Abnormality of the orbital region	6045	RNF2	OMIM:619460
HP:0000315	Abnormality of the orbital region	6872	TAF1	ORPHA:480907
HP:0000315	Abnormality of the orbital region	23258	DENND5A	OMIM:617281
HP:0000315	Abnormality of the orbital region	9496	TBX4	ORPHA:261279
HP:0000315	Abnormality of the orbital region	1105	CHD1	OMIM:617682
HP:0000315	Abnormality of the orbital region	22872	SEC31A	OMIM:618651
HP:0000315	Abnormality of the orbital region	283987	HID1	OMIM:619983
HP:0000315	Abnormality of the orbital region	23314	SATB2	OMIM:612313
HP:0000315	Abnormality of the orbital region	3782	KCNN3	OMIM:618658
HP:0000315	Abnormality of the orbital region	3782	KCNN3	ORPHA:3473
HP:0000315	Abnormality of the orbital region	3756	KCNH1	ORPHA:3473
HP:0000315	Abnormality of the orbital region	3756	KCNH1	ORPHA:420561
HP:0000315	Abnormality of the orbital region	4247	MGAT2	OMIM:212066
HP:0000315	Abnormality of the orbital region	4247	MGAT2	ORPHA:79329
HP:0000315	Abnormality of the orbital region	23476	BRD4	ORPHA:199
HP:0000315	Abnormality of the orbital region	25836	NIPBL	ORPHA:199
HP:0000315	Abnormality of the orbital region	25836	NIPBL	OMIM:122470
HP:0000315	Abnormality of the orbital region	5885	RAD21	ORPHA:199
HP:0000315	Abnormality of the orbital region	50801	KCNK4	OMIM:618381
HP:0000315	Abnormality of the orbital region	10664	CTCF	ORPHA:363611
HP:0000315	Abnormality of the orbital region	10664	CTCF	OMIM:615502
HP:0000315	Abnormality of the orbital region	57003	CCDC47	OMIM:618268
HP:0000315	Abnormality of the orbital region	157680	VPS13B	ORPHA:193
HP:0000315	Abnormality of the orbital region	9150	CTDP1	ORPHA:48431
HP:0000315	Abnormality of the orbital region	149371	EXOC8	OMIM:619076
HP:0000315	Abnormality of the orbital region	92609	TIMM50	OMIM:617698
HP:0000315	Abnormality of the orbital region	85440	DOCK7	ORPHA:411986
HP:0000315	Abnormality of the orbital region	85440	DOCK7	OMIM:615859
HP:0000315	Abnormality of the orbital region	54499	TMCO1	OMIM:213980
HP:0000315	Abnormality of the orbital region	283209	PGM2L1	OMIM:620191
HP:0000315	Abnormality of the orbital region	4094	MAF	ORPHA:1272
HP:0000315	Abnormality of the orbital region	374879	ZNF699	OMIM:619488
HP:0000315	Abnormality of the orbital region	51305	KCNK9	OMIM:612292
HP:0000315	Abnormality of the orbital region	1806	DPYD	ORPHA:1675
HP:0000315	Abnormality of the orbital region	23261	CAMTA1	OMIM:614756
HP:0000315	Abnormality of the orbital region	6605	SMARCE1	OMIM:616938
HP:0000315	Abnormality of the orbital region	55343	SLC35C1	ORPHA:99843
HP:0000315	Abnormality of the orbital region	55691	FRMD4A	OMIM:616819
HP:0000315	Abnormality of the orbital region	55691	FRMD4A	ORPHA:466688
HP:0000315	Abnormality of the orbital region	5495	PPM1B	ORPHA:163693
HP:0000315	Abnormality of the orbital region	6519	SLC3A1	ORPHA:163693
HP:0000315	Abnormality of the orbital region	9581	PREPL	ORPHA:163693
HP:0000315	Abnormality of the orbital region	79823	CAMKMT	ORPHA:163693
HP:0000315	Abnormality of the orbital region	55252	ASXL2	OMIM:617190
HP:0000315	Abnormality of the orbital region	10463	SLC30A9	OMIM:617595
HP:0000315	Abnormality of the orbital region	738	VPS51	OMIM:618606
HP:0000315	Abnormality of the orbital region	4848	CNOT2	OMIM:618608
HP:0000315	Abnormality of the orbital region	84842	HPDL	OMIM:619026
HP:0000315	Abnormality of the orbital region	5881	RAC3	OMIM:618577
HP:0000315	Abnormality of the orbital region	9181	ARHGEF2	OMIM:617523
HP:0000315	Abnormality of the orbital region	6878	TAF6	OMIM:617126
HP:0000315	Abnormality of the orbital region	7407	VARS1	OMIM:617802
HP:0000315	Abnormality of the orbital region	64132	XYLT2	ORPHA:85194
HP:0000315	Abnormality of the orbital region	10736	SIX2	ORPHA:488437
HP:0000315	Abnormality of the orbital region	4035	LRP1	OMIM:604093
HP:0000315	Abnormality of the orbital region	3229	HOXC13	OMIM:614931
HP:0000315	Abnormality of the orbital region	9131	AIFM1	OMIM:300232
HP:0000315	Abnormality of the orbital region	9820	CUL7	ORPHA:2616
HP:0000315	Abnormality of the orbital region	9820	CUL7	OMIM:273750
HP:0000315	Abnormality of the orbital region	23363	OBSL1	ORPHA:2616
HP:0000315	Abnormality of the orbital region	83987	CCDC8	ORPHA:2616
HP:0000315	Abnormality of the orbital region	10479	SLC9A6	OMIM:300243
HP:0000315	Abnormality of the orbital region	10479	SLC9A6	ORPHA:85278
HP:0000315	Abnormality of the orbital region	10015	PDCD6IP	OMIM:620047
HP:0000315	Abnormality of the orbital region	55280	CWF19L1	OMIM:616127
HP:0000315	Abnormality of the orbital region	5593	PRKG2	OMIM:619636
HP:0000315	Abnormality of the orbital region	285362	SUMF1	ORPHA:585
HP:0000315	Abnormality of the orbital region	5700	PSMC1	OMIM:620071
HP:0000315	Abnormality of the orbital region	81887	LAS1L	ORPHA:3459
HP:0000315	Abnormality of the orbital region	81887	LAS1L	OMIM:309585
HP:0000315	Abnormality of the orbital region	11160	ERLIN2	ORPHA:280384
HP:0000315	Abnormality of the orbital region	11160	ERLIN2	ORPHA:209951
HP:0000315	Abnormality of the orbital region	8091	HMGA2	ORPHA:94063
HP:0000315	Abnormality of the orbital region	54361	WNT4	ORPHA:247768
HP:0000315	Abnormality of the orbital region	50937	CDON	OMIM:614226
HP:0000315	Abnormality of the orbital region	3425	IDUA	ORPHA:93473
HP:0000315	Abnormality of the orbital region	2131	EXT1	ORPHA:502
HP:0000315	Abnormality of the orbital region	2799	GNS	OMIM:252940
HP:0000315	Abnormality of the orbital region	2990	GUSB	OMIM:253220
HP:0000315	Abnormality of the orbital region	55331	ACER3	OMIM:617762
HP:0000315	Abnormality of the orbital region	3166	HMX1	OMIM:612109
HP:0000315	Abnormality of the orbital region	199857	ALG14	OMIM:619036
HP:0000315	Abnormality of the orbital region	64220	STRA6	OMIM:601186
HP:0000315	Abnormality of the orbital region	6608	SMO	OMIM:601707
HP:0000315	Abnormality of the orbital region	27238	GPKOW	ORPHA:2570
HP:0000315	Abnormality of the orbital region	91179	SCARF2	OMIM:600920
HP:0000315	Abnormality of the orbital region	29895	MYL11	OMIM:619110
HP:0000315	Abnormality of the orbital region	22931	RAB18	OMIM:614222
HP:0000315	Abnormality of the orbital region	5557	PRIM1	OMIM:620005
HP:0000315	Abnormality of the orbital region	104	ADARB1	OMIM:618862
HP:0000315	Abnormality of the orbital region	7109	TRAPPC10	OMIM:620027
HP:0000315	Abnormality of the orbital region	7109	TRAPPC10	ORPHA:2512
HP:0000315	Abnormality of the orbital region	4774	NFIA	OMIM:613735
HP:0000315	Abnormality of the orbital region	197131	UBR1	OMIM:243800
HP:0000315	Abnormality of the orbital region	2314	FLII	ORPHA:819
HP:0000315	Abnormality of the orbital region	23096	IQSEC2	ORPHA:819
HP:0000315	Abnormality of the orbital region	5191	PEX7	OMIM:215100
HP:0000315	Abnormality of the orbital region	55697	VAC14	ORPHA:3472
HP:0000315	Abnormality of the orbital region	26057	ANKRD17	OMIM:619504
HP:0000315	Abnormality of the orbital region	1174	AP1S1	OMIM:609313
HP:0000315	Abnormality of the orbital region	3043	HBB	ORPHA:231214
HP:0000315	Abnormality of the orbital region	3043	HBB	ORPHA:231226
HP:0000315	Abnormality of the orbital region	84879	MFSD2A	OMIM:616486
HP:0000315	Abnormality of the orbital region	84879	MFSD2A	ORPHA:2512
HP:0000315	Abnormality of the orbital region	5063	PAK3	OMIM:300558
HP:0000315	Abnormality of the orbital region	116115	ZNF526	OMIM:619877
HP:0000315	Abnormality of the orbital region	8364	H4C3	OMIM:619758
HP:0000315	Abnormality of the orbital region	55210	ATAD3A	ORPHA:496790
HP:0000315	Abnormality of the orbital region	55210	ATAD3A	OMIM:617183
HP:0000315	Abnormality of the orbital region	4849	CNOT3	OMIM:618672
HP:0000315	Abnormality of the orbital region	182	JAG1	OMIM:118450
HP:0000315	Abnormality of the orbital region	4208	MEF2C	ORPHA:228384
HP:0000315	Abnormality of the orbital region	4208	MEF2C	OMIM:613443
HP:0000315	Abnormality of the orbital region	4677	NARS1	OMIM:619092
HP:0000315	Abnormality of the orbital region	8242	KDM5C	OMIM:300534
HP:0000315	Abnormality of the orbital region	79989	IFT56	OMIM:619534
HP:0000315	Abnormality of the orbital region	7546	ZIC2	OMIM:609637
HP:0000315	Abnormality of the orbital region	7319	UBE2A	ORPHA:163956
HP:0000315	Abnormality of the orbital region	7319	UBE2A	OMIM:300860
HP:0000315	Abnormality of the orbital region	55770	EXOC2	OMIM:619306
HP:0000315	Abnormality of the orbital region	9230	RAB11B	OMIM:617807
HP:0000315	Abnormality of the orbital region	55081	IFT57	OMIM:617927
HP:0000315	Abnormality of the orbital region	9488	PIGB	OMIM:618580
HP:0000315	Abnormality of the orbital region	1859	DYRK1A	ORPHA:268261
HP:0000315	Abnormality of the orbital region	7681	MKRN3	OMIM:176270
HP:0000315	Abnormality of the orbital region	3653	IPW	OMIM:176270
HP:0000315	Abnormality of the orbital region	791114	PWRN1	OMIM:176270
HP:0000315	Abnormality of the orbital region	100033413	SNORD116-1	OMIM:176270
HP:0000315	Abnormality of the orbital region	8924	HERC2	OMIM:176270
HP:0000315	Abnormality of the orbital region	145624	PWAR1	OMIM:176270
HP:0000315	Abnormality of the orbital region	23742	NPAP1	OMIM:176270
HP:0000315	Abnormality of the orbital region	338433	SNORD115-1	OMIM:176270
HP:0000315	Abnormality of the orbital region	6492	SIM1	ORPHA:171829
HP:0000315	Abnormality of the orbital region	84162	BLTP1	OMIM:617822
HP:0000315	Abnormality of the orbital region	55784	MCTP2	ORPHA:1596
HP:0000315	Abnormality of the orbital region	3097	HIVEP2	OMIM:616977
HP:0000315	Abnormality of the orbital region	4952	OCRL	ORPHA:534
HP:0000315	Abnormality of the orbital region	6904	TBCD	ORPHA:496641
HP:0000315	Abnormality of the orbital region	6904	TBCD	OMIM:617193
HP:0000315	Abnormality of the orbital region	1741	DLG3	OMIM:300850
HP:0000315	Abnormality of the orbital region	51116	MRPS2	OMIM:617950
HP:0000315	Abnormality of the orbital region	55906	ZC4H2	OMIM:314580
HP:0000315	Abnormality of the orbital region	9241	NOG	OMIM:186500
HP:0000315	Abnormality of the orbital region	1781	DYNC1I2	OMIM:618492
HP:0000315	Abnormality of the orbital region	9451	EIF2AK3	OMIM:226980
HP:0000315	Abnormality of the orbital region	5277	PIGA	OMIM:300868
HP:0000315	Abnormality of the orbital region	6638	SNRPN	ORPHA:177907
HP:0000315	Abnormality of the orbital region	10771	ZMYND11	OMIM:616083
HP:0000315	Abnormality of the orbital region	6611	SMS	ORPHA:3063
HP:0000315	Abnormality of the orbital region	11212	PLPBP	OMIM:617290
HP:0000315	Abnormality of the orbital region	84265	POLR3GL	OMIM:619234
HP:0000315	Abnormality of the orbital region	51604	PIGT	ORPHA:369837
HP:0000315	Abnormality of the orbital region	9894	TELO2	ORPHA:488642
HP:0000315	Abnormality of the orbital region	25914	RTTN	ORPHA:468631
HP:0000315	Abnormality of the orbital region	8936	WASF1	OMIM:618707
HP:0000315	Abnormality of the orbital region	63932	STEEP1	OMIM:301013
HP:0000315	Abnormality of the orbital region	54870	QRICH1	OMIM:617982
HP:0000315	Abnormality of the orbital region	90416	CCDC32	OMIM:619123
HP:0000315	Abnormality of the orbital region	6911	TBX6	ORPHA:1797
HP:0000315	Abnormality of the orbital region	10551	AGR2	OMIM:620233
HP:0000315	Abnormality of the orbital region	1315	COPB1	OMIM:619255
HP:0000315	Abnormality of the orbital region	4724	NDUFS4	OMIM:252010
HP:0000315	Abnormality of the orbital region	9276	COPB2	ORPHA:2512
HP:0000315	Abnormality of the orbital region	11113	CIT	ORPHA:2512
HP:0000315	Abnormality of the orbital region	9928	KIF14	ORPHA:2512
HP:0000315	Abnormality of the orbital region	284403	WDR62	ORPHA:2512
HP:0000315	Abnormality of the orbital region	55262	TRAPPC14	ORPHA:2512
HP:0000315	Abnormality of the orbital region	163786	SASS6	ORPHA:2512
HP:0000315	Abnormality of the orbital region	4176	MCM7	ORPHA:2512
HP:0000315	Abnormality of the orbital region	80254	CEP63	ORPHA:2512
HP:0000315	Abnormality of the orbital region	29081	METTL5	ORPHA:2512
HP:0000315	Abnormality of the orbital region	23310	NCAPD3	ORPHA:2512
HP:0000315	Abnormality of the orbital region	55755	CDK5RAP2	ORPHA:2512
HP:0000315	Abnormality of the orbital region	79648	MCPH1	ORPHA:2512
HP:0000315	Abnormality of the orbital region	6491	STIL	ORPHA:2512
HP:0000315	Abnormality of the orbital region	1911	PHC1	ORPHA:2512
HP:0000315	Abnormality of the orbital region	6884	TAF13	ORPHA:2512
HP:0000315	Abnormality of the orbital region	9662	CEP135	ORPHA:2512
HP:0000315	Abnormality of the orbital region	57082	KNL1	ORPHA:2512
HP:0000315	Abnormality of the orbital region	1021	CDK6	ORPHA:2512
HP:0000315	Abnormality of the orbital region	23133	PHF8	OMIM:300263
HP:0000315	Abnormality of the orbital region	11141	IL1RAPL1	OMIM:300143
HP:0000315	Abnormality of the orbital region	10844	TUBGCP2	OMIM:618737
HP:0000315	Abnormality of the orbital region	3763	KCNJ6	ORPHA:435628
HP:0000315	Abnormality of the orbital region	3763	KCNJ6	OMIM:614098
HP:0000315	Abnormality of the orbital region	57061	HYMAI	ORPHA:96191
HP:0000315	Abnormality of the orbital region	5325	PLAGL1	ORPHA:96191
HP:0000315	Abnormality of the orbital region	775	CACNA1C	OMIM:620029
HP:0000315	Abnormality of the orbital region	221496	LEMD2	OMIM:619322
HP:0000315	Abnormality of the orbital region	10651	MTX2	OMIM:619127
HP:0000315	Abnormality of the orbital region	8985	PLOD3	OMIM:612394
HP:0000315	Abnormality of the orbital region	23729	SHPK	ORPHA:440713
HP:0000315	Abnormality of the orbital region	871	SERPINH1	OMIM:613848
HP:0000315	Abnormality of the orbital region	81794	ADAMTS10	OMIM:277600
HP:0000315	Abnormality of the orbital region	2138	EYA1	ORPHA:52429
HP:0000315	Abnormality of the orbital region	6495	SIX1	ORPHA:52429
HP:0000315	Abnormality of the orbital region	51360	MBTPS2	ORPHA:2273
HP:0000315	Abnormality of the orbital region	330	BIRC3	ORPHA:52417
HP:0000315	Abnormality of the orbital region	10892	MALT1	ORPHA:52417
HP:0000315	Abnormality of the orbital region	27086	FOXP1	ORPHA:52417
HP:0000315	Abnormality of the orbital region	3492	IGH	ORPHA:52417
HP:0000315	Abnormality of the orbital region	8915	BCL10	ORPHA:52417
HP:0000315	Abnormality of the orbital region	3832	KIF11	ORPHA:2526
HP:0000315	Abnormality of the orbital region	9791	PTDSS1	ORPHA:2658
HP:0000315	Abnormality of the orbital region	2260	FGFR1	ORPHA:2396
HP:0000315	Abnormality of the orbital region	5189	PEX1	ORPHA:3220
HP:0000315	Abnormality of the orbital region	54539	NDUFB11	ORPHA:2556
HP:0000315	Abnormality of the orbital region	1349	COX7B	ORPHA:2556
HP:0000315	Abnormality of the orbital region	3052	HCCS	ORPHA:2556
HP:0000315	Abnormality of the orbital region	23592	LEMD3	ORPHA:166119
HP:0000315	Abnormality of the orbital region	523	ATP6V1A	OMIM:617403
HP:0000315	Abnormality of the orbital region	529	ATP6V1E1	OMIM:617402
HP:0000315	Abnormality of the orbital region	51053	GMNN	OMIM:616835
HP:0000315	Abnormality of the orbital region	11128	POLR3A	OMIM:264090
HP:0000315	Abnormality of the orbital region	11128	POLR3A	ORPHA:3455
HP:0000315	Abnormality of the orbital region	6154	RPL26	OMIM:614900
HP:0000315	Abnormality of the orbital region	157570	ESCO2	OMIM:268300
HP:0000315	Abnormality of the orbital region	1723	DHODH	ORPHA:246
HP:0000315	Abnormality of the orbital region	1723	DHODH	OMIM:263750
HP:0000315	Abnormality of the orbital region	54101	RIPK4	ORPHA:1234
HP:0000315	Abnormality of the orbital region	10535	RNASEH2A	ORPHA:51
HP:0000315	Abnormality of the orbital region	84153	RNASEH2C	ORPHA:51
HP:0000315	Abnormality of the orbital region	25939	SAMHD1	ORPHA:51
HP:0000315	Abnormality of the orbital region	79621	RNASEH2B	ORPHA:51
HP:0000315	Abnormality of the orbital region	103	ADAR	ORPHA:51
HP:0000315	Abnormality of the orbital region	11277	TREX1	ORPHA:51
HP:0000315	Abnormality of the orbital region	100147744	RNU7-1	ORPHA:51
HP:0000315	Abnormality of the orbital region	134353	LSM11	ORPHA:51
HP:0000315	Abnormality of the orbital region	64135	IFIH1	ORPHA:51
HP:0000315	Abnormality of the orbital region	2313	FLI1	ORPHA:2308
HP:0000315	Abnormality of the orbital region	55636	CHD7	ORPHA:138
HP:0000315	Abnormality of the orbital region	9723	SEMA3E	ORPHA:138
HP:0000315	Abnormality of the orbital region	8092	ALX1	OMIM:613456
HP:0000315	Abnormality of the orbital region	158326	FREM1	ORPHA:2717
HP:0000315	Abnormality of the orbital region	7291	TWIST1	OMIM:617746
HP:0000315	Abnormality of the orbital region	1009	CDH11	OMIM:619736
HP:0000315	Abnormality of the orbital region	10992	SF3B2	OMIM:164210
HP:0000315	Abnormality of the orbital region	80144	FRAS1	OMIM:219000
HP:0000315	Abnormality of the orbital region	6949	TCOF1	OMIM:154500
HP:0000315	Abnormality of the orbital region	60	ACTB	OMIM:243310
HP:0000315	Abnormality of the orbital region	60	ACTB	ORPHA:2995
HP:0000315	Abnormality of the orbital region	699	BUB1	OMIM:620183
HP:0000315	Abnormality of the orbital region	23013	SPEN	OMIM:619312
HP:0000315	Abnormality of the orbital region	8812	CCNK	OMIM:618147
HP:0000315	Abnormality of the orbital region	9759	HDAC4	OMIM:619797
HP:0000315	Abnormality of the orbital region	71	ACTG1	OMIM:614583
HP:0000315	Abnormality of the orbital region	71	ACTG1	ORPHA:2995
HP:0000315	Abnormality of the orbital region	10526	IPO8	OMIM:619472
HP:0000315	Abnormality of the orbital region	9158	FIBP	ORPHA:500095
HP:0000315	Abnormality of the orbital region	9158	FIBP	OMIM:617107
HP:0000315	Abnormality of the orbital region	6711	SPTBN1	OMIM:619475
HP:0000315	Abnormality of the orbital region	51633	OTUD6B	OMIM:617452
HP:0000315	Abnormality of the orbital region	51633	OTUD6B	ORPHA:505237
HP:0000315	Abnormality of the orbital region	1857	DVL3	ORPHA:3107
HP:0000315	Abnormality of the orbital region	7474	WNT5A	ORPHA:3107
HP:0000315	Abnormality of the orbital region	7474	WNT5A	OMIM:180700
HP:0000315	Abnormality of the orbital region	1855	DVL1	ORPHA:3107
HP:0000315	Abnormality of the orbital region	1855	DVL1	OMIM:180700
HP:0000315	Abnormality of the orbital region	2535	FZD2	ORPHA:3107
HP:0000315	Abnormality of the orbital region	29123	ANKRD11	ORPHA:2332
HP:0000315	Abnormality of the orbital region	29123	ANKRD11	OMIM:148050
HP:0000315	Abnormality of the orbital region	100151683	RNU4ATAC	ORPHA:353298
HP:0000315	Abnormality of the orbital region	100151683	RNU4ATAC	OMIM:616651
HP:0000315	Abnormality of the orbital region	84720	PIGO	OMIM:614749
HP:0000315	Abnormality of the orbital region	84720	PIGO	ORPHA:247262
HP:0000315	Abnormality of the orbital region	8405	SPOP	OMIM:618829
HP:0000315	Abnormality of the orbital region	3190	HNRNPK	ORPHA:453504
HP:0000315	Abnormality of the orbital region	3190	HNRNPK	OMIM:616580
HP:0000315	Abnormality of the orbital region	3190	HNRNPK	ORPHA:352665
HP:0000315	Abnormality of the orbital region	51611	DPH5	OMIM:620070
HP:0000315	Abnormality of the orbital region	57459	GATAD2B	ORPHA:363686
HP:0000315	Abnormality of the orbital region	3636	INPPL1	OMIM:258480
HP:0000315	Abnormality of the orbital region	10978	CLP1	ORPHA:411493
HP:0000315	Abnormality of the orbital region	10978	CLP1	OMIM:615803
HP:0000315	Abnormality of the orbital region	1759	DNM1	OMIM:620352
HP:0000315	Abnormality of the orbital region	55650	PIGV	OMIM:239300
HP:0000315	Abnormality of the orbital region	55650	PIGV	ORPHA:247262
HP:0000315	Abnormality of the orbital region	4920	ROR2	OMIM:268310
HP:0000315	Abnormality of the orbital region	4920	ROR2	ORPHA:1507
HP:0000315	Abnormality of the orbital region	5296	PIK3R2	OMIM:603387
HP:0000315	Abnormality of the orbital region	84992	PIGY	ORPHA:247262
HP:0000315	Abnormality of the orbital region	93210	PGAP3	ORPHA:247262
HP:0000315	Abnormality of the orbital region	284098	PIGW	ORPHA:247262
HP:0000315	Abnormality of the orbital region	27315	PGAP2	ORPHA:247262
HP:0000315	Abnormality of the orbital region	27315	PGAP2	OMIM:614207
HP:0000315	Abnormality of the orbital region	9487	PIGL	ORPHA:247262
HP:0000315	Abnormality of the orbital region	4001	LMNB1	OMIM:619179
HP:0000315	Abnormality of the orbital region	818	CAMK2G	OMIM:618522
HP:0000315	Abnormality of the orbital region	5879	RAC1	OMIM:617751
HP:0000315	Abnormality of the orbital region	24140	FTSJ1	OMIM:309549
HP:0000315	Abnormality of the orbital region	92255	LMBRD2	OMIM:619694
HP:0000315	Abnormality of the orbital region	1984	EIF5A	OMIM:619376
HP:0000315	Abnormality of the orbital region	8120	AP3B2	OMIM:617276
HP:0000315	Abnormality of the orbital region	57479	PRR12	OMIM:619539
HP:0000315	Abnormality of the orbital region	79718	TBL1XR1	OMIM:616944
HP:0000315	Abnormality of the orbital region	5604	MAP2K1	ORPHA:1340
HP:0000315	Abnormality of the orbital region	5605	MAP2K2	ORPHA:1340
HP:0000315	Abnormality of the orbital region	673	BRAF	ORPHA:1340
HP:0000315	Abnormality of the orbital region	64359	NXN	ORPHA:1507
HP:0000315	Abnormality of the orbital region	7043	TGFB3	OMIM:615582
HP:0000315	Abnormality of the orbital region	7403	KDM6A	OMIM:300867
HP:0000315	Abnormality of the orbital region	7403	KDM6A	OMIM:147920
HP:0000315	Abnormality of the orbital region	1523	CUX1	OMIM:618330
HP:0000315	Abnormality of the orbital region	5144	PDE4D	ORPHA:439822
HP:0000315	Abnormality of the orbital region	5813	PURA	ORPHA:438216
HP:0000315	Abnormality of the orbital region	5813	PURA	OMIM:616158
HP:0000315	Abnormality of the orbital region	170302	ARX	OMIM:300419
HP:0000315	Abnormality of the orbital region	649	BMP1	OMIM:614856
HP:0000315	Abnormality of the orbital region	2783	GNB2	OMIM:619503
HP:0000315	Abnormality of the orbital region	27445	PCLO	OMIM:608027
HP:0000315	Abnormality of the orbital region	8085	KMT2D	OMIM:147920
HP:0000315	Abnormality of the orbital region	2263	FGFR2	ORPHA:794
HP:0000315	Abnormality of the orbital region	2261	FGFR3	ORPHA:794
HP:0000315	Abnormality of the orbital region	1816	DRD5	OMIM:606798
HP:0000315	Abnormality of the orbital region	2512	FTL	OMIM:606159
HP:0000315	Abnormality of the orbital region	2512	FTL	ORPHA:157846
HP:0000315	Abnormality of the orbital region	63982	ANO3	OMIM:615034
HP:0000315	Abnormality of the orbital region	63982	ANO3	ORPHA:420485
HP:0000315	Abnormality of the orbital region	4137	MAPT	ORPHA:240071
HP:0000315	Abnormality of the orbital region	4137	MAPT	ORPHA:240094
HP:0000315	Abnormality of the orbital region	1356	CP	OMIM:604290
HP:0000315	Abnormality of the orbital region	1356	CP	ORPHA:48818
HP:0000315	Abnormality of the orbital region	10382	TUBB4A	ORPHA:98805
HP:0000315	Abnormality of the orbital region	55145	THAP1	ORPHA:98806
HP:0000315	Abnormality of the orbital region	10815	CPLX1	ORPHA:352582
HP:0000315	Abnormality of the orbital region	57465	TBC1D24	ORPHA:352582
HP:0000315	Abnormality of the orbital region	80025	PANK2	OMIM:234200
HP:0000315	Abnormality of the orbital region	3339	HSPG2	ORPHA:800
HP:0000315	Abnormality of the orbital region	3208	HPCA	ORPHA:99657
HP:0000315	Abnormality of the orbital region	3208	HPCA	OMIM:224500
HP:0000315	Abnormality of the orbital region	1822	ATN1	ORPHA:101
HP:0000315	Abnormality of the orbital region	84172	POLR1B	ORPHA:861
HP:0000315	Abnormality of the orbital region	9533	POLR1C	ORPHA:861
HP:0000315	Abnormality of the orbital region	51082	POLR1D	ORPHA:861
HP:0000315	Abnormality of the orbital region	51102	MECR	OMIM:617282
HP:0000315	Abnormality of the orbital region	56910	STARD7	OMIM:607876
HP:0000315	Abnormality of the orbital region	11315	PARK7	OMIM:606324
HP:0000315	Abnormality of the orbital region	79734	KCTD17	OMIM:616398
HP:0000315	Abnormality of the orbital region	23400	ATP13A2	ORPHA:306674
HP:0000315	Abnormality of the orbital region	23230	VPS13A	ORPHA:2388
HP:0000315	Abnormality of the orbital region	16	AARS1	OMIM:616339
HP:0000315	Abnormality of the orbital region	1644	DDC	OMIM:608643
HP:0000315	Abnormality of the orbital region	773	CACNA1A	ORPHA:98758
HP:0000315	Abnormality of the orbital region	1861	TOR1A	OMIM:128100
HP:0000315	Abnormality of the orbital region	6908	TBP	ORPHA:98759
HP:0000315	Abnormality of the orbital region	81607	NECTIN4	OMIM:613573
HP:0000315	Abnormality of the orbital region	1909	EDNRA	OMIM:616367
HP:0000315	Abnormality of the orbital region	641	BLM	ORPHA:125
HP:0000315	Abnormality of the orbital region	5339	PLEC	OMIM:226730
HP:0000315	Abnormality of the orbital region	3691	ITGB4	OMIM:226730
HP:0000315	Abnormality of the orbital region	3691	ITGB4	ORPHA:79403
HP:0000315	Abnormality of the orbital region	2629	GBA1	ORPHA:85212
HP:0000315	Abnormality of the orbital region	79092	CARD14	OMIM:173200
HP:0000315	Abnormality of the orbital region	51099	ABHD5	OMIM:275630
HP:0000315	Abnormality of the orbital region	51099	ABHD5	ORPHA:98907
HP:0000315	Abnormality of the orbital region	3655	ITGA6	ORPHA:79403
HP:0000315	Abnormality of the orbital region	204219	CERS3	OMIM:615023
HP:0000315	Abnormality of the orbital region	204219	CERS3	ORPHA:79394
HP:0000315	Abnormality of the orbital region	285848	PNPLA1	ORPHA:79394
HP:0000315	Abnormality of the orbital region	1906	EDN1	OMIM:615706
HP:0000315	Abnormality of the orbital region	8398	PLA2G6	ORPHA:199351
HP:0000315	Abnormality of the orbital region	8398	PLA2G6	OMIM:612953
HP:0000315	Abnormality of the orbital region	7552	ZNF711	OMIM:300803
HP:0000315	Abnormality of the orbital region	318	NUDT2	OMIM:619844
HP:0000315	Abnormality of the orbital region	55870	ASH1L	OMIM:617796
HP:0000315	Abnormality of the orbital region	6509	SLC1A4	ORPHA:447997
HP:0000315	Abnormality of the orbital region	81603	TRIM8	OMIM:619428
HP:0000315	Abnormality of the orbital region	6888	TALDO1	OMIM:606003
HP:0000315	Abnormality of the orbital region	6448	SGSH	OMIM:252900
HP:0000315	Abnormality of the orbital region	8473	OGT	OMIM:300997
HP:0000315	Abnormality of the orbital region	6792	CDKL5	ORPHA:505652
HP:0000315	Abnormality of the orbital region	80185	TTI2	OMIM:615541
HP:0000315	Abnormality of the orbital region	80185	TTI2	ORPHA:391307
HP:0000315	Abnormality of the orbital region	5702	PSMC3	OMIM:619354
HP:0000315	Abnormality of the orbital region	138050	HGSNAT	OMIM:252930
HP:0000315	Abnormality of the orbital region	64802	NMNAT1	OMIM:619260
HP:0000315	Abnormality of the orbital region	284361	EMC10	OMIM:619264
HP:0000315	Abnormality of the orbital region	4669	NAGLU	OMIM:252920
HP:0000315	Abnormality of the orbital region	6720	SREBF1	OMIM:158310
HP:0000315	Abnormality of the orbital region	3141	HLCS	ORPHA:79242
HP:0000315	Abnormality of the orbital region	326	AIRE	OMIM:240300
HP:0000315	Abnormality of the orbital region	6335	SCN9A	OMIM:133020
HP:0000315	Abnormality of the orbital region	55699	IARS2	OMIM:616007
HP:0000315	Abnormality of the orbital region	1308	COL17A1	ORPHA:293381
HP:0000315	Abnormality of the orbital region	4547	MTTP	ORPHA:14
HP:0000315	Abnormality of the orbital region	22861	NLRP1	OMIM:617388
HP:0000315	Abnormality of the orbital region	64127	NOD2	OMIM:617321
HP:0000315	Abnormality of the orbital region	3930	LBR	ORPHA:779
HP:0000315	Abnormality of the orbital region	165	AEBP1	ORPHA:536532
HP:0000315	Abnormality of the orbital region	149233	IL23R	ORPHA:117
HP:0000315	Abnormality of the orbital region	6775	STAT4	ORPHA:117
HP:0000315	Abnormality of the orbital region	3586	IL10	ORPHA:117
HP:0000315	Abnormality of the orbital region	4210	MEFV	ORPHA:117
HP:0000315	Abnormality of the orbital region	1230	CCR1	ORPHA:117
HP:0000315	Abnormality of the orbital region	3592	IL12A	ORPHA:117
HP:0000315	Abnormality of the orbital region	101928376	IL12A-AS1	ORPHA:117
HP:0000315	Abnormality of the orbital region	7099	TLR4	ORPHA:117
HP:0000315	Abnormality of the orbital region	3459	IFNGR1	ORPHA:117
HP:0000315	Abnormality of the orbital region	720	C4A	ORPHA:117
HP:0000315	Abnormality of the orbital region	337867	UBAC2	ORPHA:117
HP:0000315	Abnormality of the orbital region	51752	ERAP1	ORPHA:117
HP:0000315	Abnormality of the orbital region	8302	KLRC4	ORPHA:117
HP:0000315	Abnormality of the orbital region	255738	PCSK9	OMIM:603776
HP:0000315	Abnormality of the orbital region	5159	PDGFRB	OMIM:616592
HP:0000315	Abnormality of the orbital region	338	APOB	OMIM:144010
HP:0000315	Abnormality of the orbital region	336	APOA2	OMIM:143890
HP:0000315	Abnormality of the orbital region	2053	EPHX2	OMIM:143890
HP:0000315	Abnormality of the orbital region	10842	PPP1R17	OMIM:143890
HP:0000315	Abnormality of the orbital region	2690	GHR	OMIM:143890
HP:0000315	Abnormality of the orbital region	3949	LDLR	OMIM:143890
HP:0000315	Abnormality of the orbital region	2538	G6PC1	OMIM:232200
HP:0000315	Abnormality of the orbital region	1593	CYP27A1	OMIM:213700
HP:0000315	Abnormality of the orbital region	4023	LPL	OMIM:144250
HP:0000315	Abnormality of the orbital region	7274	TTPA	OMIM:277460
HP:0000315	Abnormality of the orbital region	2542	SLC37A4	OMIM:232220
HP:0000315	Abnormality of the orbital region	2542	SLC37A4	OMIM:232240
HP:0000315	Abnormality of the orbital region	2542	SLC37A4	ORPHA:79259
HP:0000315	Abnormality of the orbital region	64241	ABCG8	OMIM:210250
HP:0000315	Abnormality of the orbital region	335	APOA1	ORPHA:425
HP:0000315	Abnormality of the orbital region	19	ABCA1	ORPHA:425
HP:0000315	Abnormality of the orbital region	54892	NCAPG2	OMIM:618460
HP:0000315	Abnormality of the orbital region	207	AKT1	OMIM:176920
HP:0000315	Abnormality of the orbital region	6299	SALL1	ORPHA:857
HP:0000315	Abnormality of the orbital region	51339	DACT1	ORPHA:857
HP:0000315	Abnormality of the orbital region	652	BMP4	OMIM:607932
HP:0000315	Abnormality of the orbital region	5076	PAX2	OMIM:120330
HP:0000315	Abnormality of the orbital region	347733	TUBB2B	OMIM:610031
HP:0000315	Abnormality of the orbital region	401	PHOX2A	OMIM:602078
HP:0000315	Abnormality of the orbital region	55605	KIF21A	OMIM:135700
HP:0000315	Abnormality of the orbital region	5317	PKP1	OMIM:604536
HP:0000315	Abnormality of the orbital region	4953	ODC1	OMIM:619075
HP:0000315	Abnormality of the orbital region	4953	ODC1	ORPHA:544488
HP:0000315	Abnormality of the orbital region	8313	AXIN2	OMIM:608615
HP:0000315	Abnormality of the orbital region	1832	DSP	ORPHA:158687
HP:0000315	Abnormality of the orbital region	3728	JUP	ORPHA:158687
HP:0000315	Abnormality of the orbital region	128178	EDARADD	OMIM:614941
HP:0000315	Abnormality of the orbital region	64682	ANAPC1	OMIM:618625
HP:0000315	Abnormality of the orbital region	3891	KRT85	OMIM:602032
HP:0000315	Abnormality of the orbital region	55806	HR	ORPHA:701
HP:0000315	Abnormality of the orbital region	55806	HR	OMIM:203655
HP:0000315	Abnormality of the orbital region	10283	CWC27	ORPHA:166035
HP:0000315	Abnormality of the orbital region	84946	LTV1	OMIM:620199
HP:0000315	Abnormality of the orbital region	1896	EDA	OMIM:305100
HP:0000315	Abnormality of the orbital region	5297	PI4KA	ORPHA:436252
HP:0000315	Abnormality of the orbital region	57217	TTC7A	ORPHA:436252
HP:0000315	Abnormality of the orbital region	1001	CDH3	ORPHA:1897
HP:0000315	Abnormality of the orbital region	79083	MLPH	OMIM:609227
HP:0000315	Abnormality of the orbital region	4157	MC1R	ORPHA:79432
HP:0000315	Abnormality of the orbital region	4948	OCA2	ORPHA:79432
HP:0000315	Abnormality of the orbital region	7306	TYRP1	ORPHA:79433
HP:0000315	Abnormality of the orbital region	3815	KIT	ORPHA:2884
HP:0000315	Abnormality of the orbital region	4644	MYO5A	OMIM:214450
HP:0000315	Abnormality of the orbital region	10128	LRPPRC	OMIM:220111
HP:0000315	Abnormality of the orbital region	8294	H4C9	OMIM:619951
HP:0000315	Abnormality of the orbital region	50651	SLC45A1	OMIM:617532
HP:0000315	Abnormality of the orbital region	23334	SZT2	OMIM:615476
HP:0000315	Abnormality of the orbital region	7021	TFAP2B	OMIM:169100
HP:0000315	Abnormality of the orbital region	55209	SETD5	ORPHA:404440
HP:0000315	Abnormality of the orbital region	613	BCR	ORPHA:261330
HP:0000315	Abnormality of the orbital region	1399	CRKL	ORPHA:261330
HP:0000315	Abnormality of the orbital region	23322	RPGRIP1L	ORPHA:220497
HP:0000315	Abnormality of the orbital region	23322	RPGRIP1L	ORPHA:1454
HP:0000315	Abnormality of the orbital region	153241	CEP120	ORPHA:220493
HP:0000315	Abnormality of the orbital region	153241	CEP120	ORPHA:475
HP:0000315	Abnormality of the orbital region	95681	CEP41	ORPHA:220493
HP:0000315	Abnormality of the orbital region	95681	CEP41	ORPHA:475
HP:0000315	Abnormality of the orbital region	80055	PGAP1	OMIM:615802
HP:0000315	Abnormality of the orbital region	23384	SPECC1L	ORPHA:1519
HP:0000315	Abnormality of the orbital region	23384	SPECC1L	OMIM:145420
HP:0000315	Abnormality of the orbital region	5818	NECTIN1	ORPHA:3253
HP:0000315	Abnormality of the orbital region	1185	CLCN6	OMIM:619173
HP:0000315	Abnormality of the orbital region	9469	CHST3	OMIM:143095
HP:0000315	Abnormality of the orbital region	9469	CHST3	ORPHA:263463
HP:0000315	Abnormality of the orbital region	23184	MESD	OMIM:618644
HP:0000315	Abnormality of the orbital region	23325	WASHC4	OMIM:615817
HP:0000315	Abnormality of the orbital region	4330	MN1	OMIM:618774
HP:0000315	Abnormality of the orbital region	4212	MEIS2	OMIM:600987
HP:0000315	Abnormality of the orbital region	79600	TCTN1	ORPHA:475
HP:0000315	Abnormality of the orbital region	91147	TMEM67	ORPHA:475
HP:0000315	Abnormality of the orbital region	91147	TMEM67	ORPHA:1454
HP:0000315	Abnormality of the orbital region	200894	ARL13B	ORPHA:475
HP:0000315	Abnormality of the orbital region	9731	CEP104	ORPHA:475
HP:0000315	Abnormality of the orbital region	219844	HYLS1	ORPHA:475
HP:0000315	Abnormality of the orbital region	23247	KATNIP	ORPHA:475
HP:0000315	Abnormality of the orbital region	219854	TMEM218	ORPHA:475
HP:0000315	Abnormality of the orbital region	79867	TCTN2	ORPHA:475
HP:0000315	Abnormality of the orbital region	10464	PIBF1	ORPHA:475
HP:0000315	Abnormality of the orbital region	80210	ARMC9	ORPHA:475
HP:0000315	Abnormality of the orbital region	23116	TOGARAM1	ORPHA:475
HP:0000315	Abnormality of the orbital region	25776	CBY1	ORPHA:475
HP:0000315	Abnormality of the orbital region	27077	B9D1	ORPHA:475
HP:0000315	Abnormality of the orbital region	5792	PTPRF	OMIM:616001
HP:0000315	Abnormality of the orbital region	8363	H4C11	OMIM:619759
HP:0000315	Abnormality of the orbital region	9772	TMEM94	OMIM:618316
HP:0000315	Abnormality of the orbital region	3187	HNRNPH1	OMIM:620083
HP:0000315	Abnormality of the orbital region	4123	MAN2C1	OMIM:619775
HP:0000315	Abnormality of the orbital region	23483	TGDS	ORPHA:1388
HP:0000315	Abnormality of the orbital region	79791	FBXO31	OMIM:615979
HP:0000315	Abnormality of the orbital region	22856	CHSY1	OMIM:605282
HP:0000315	Abnormality of the orbital region	9427	ECEL1	OMIM:615065
HP:0000315	Abnormality of the orbital region	84188	FAR1	OMIM:616154
HP:0000315	Abnormality of the orbital region	84188	FAR1	ORPHA:438178
HP:0000315	Abnormality of the orbital region	92335	STRADA	ORPHA:500533
HP:0000315	Abnormality of the orbital region	79813	EHMT1	ORPHA:96147
HP:0000315	Abnormality of the orbital region	23028	KDM1A	OMIM:616728
HP:0000315	Abnormality of the orbital region	3313	HSPA9	OMIM:616854
HP:0000315	Abnormality of the orbital region	998	CDC42	OMIM:616737
HP:0000315	Abnormality of the orbital region	998	CDC42	ORPHA:487796
HP:0000315	Abnormality of the orbital region	56975	FAM20C	OMIM:259775
HP:0000315	Abnormality of the orbital region	26999	CYFIP2	OMIM:618008
HP:0000315	Abnormality of the orbital region	79583	TMEM231	ORPHA:2318
HP:0000315	Abnormality of the orbital region	51524	TMEM138	ORPHA:2318
HP:0000315	Abnormality of the orbital region	23090	ZNF423	ORPHA:2318
HP:0000315	Abnormality of the orbital region	57545	CC2D2A	ORPHA:2318
HP:0000315	Abnormality of the orbital region	57545	CC2D2A	ORPHA:1454
HP:0000315	Abnormality of the orbital region	348180	CTU2	OMIM:618142
HP:0000315	Abnormality of the orbital region	94005	PIGS	OMIM:618143
HP:0000315	Abnormality of the orbital region	2571	GAD1	OMIM:619124
HP:0000315	Abnormality of the orbital region	6472	SHMT2	OMIM:619121
HP:0000315	Abnormality of the orbital region	91875	TTC5	OMIM:619244
HP:0000315	Abnormality of the orbital region	113246	C12orf57	OMIM:218340
HP:0000315	Abnormality of the orbital region	259266	ASPM	OMIM:608716
HP:0000315	Abnormality of the orbital region	57020	VPS35L	OMIM:619135
HP:0000315	Abnormality of the orbital region	3480	IGF1R	OMIM:270450
HP:0000315	Abnormality of the orbital region	126695	KDF1	OMIM:617337
HP:0000315	Abnormality of the orbital region	80232	WDR26	OMIM:617616
HP:0000315	Abnormality of the orbital region	80232	WDR26	ORPHA:513456
HP:0000315	Abnormality of the orbital region	5361	PLXNA1	OMIM:619955
HP:0000315	Abnormality of the orbital region	10026	PIGK	OMIM:618879
HP:0000315	Abnormality of the orbital region	112802	KRT71	ORPHA:170
HP:0000315	Abnormality of the orbital region	147183	KRT25	ORPHA:170
HP:0000315	Abnormality of the orbital region	6926	TBX3	OMIM:181450
HP:0000315	Abnormality of the orbital region	341208	HEPHL1	OMIM:261990
HP:0000315	Abnormality of the orbital region	2892	GRIA3	ORPHA:364028
HP:0000315	Abnormality of the orbital region	200424	TET3	OMIM:618798
HP:0000315	Abnormality of the orbital region	977	CD151	OMIM:609057
HP:0000315	Abnormality of the orbital region	8626	TP63	ORPHA:69085
HP:0000315	Abnormality of the orbital region	2591	GALNT3	OMIM:211900
HP:0000315	Abnormality of the orbital region	2972	BRF1	ORPHA:444072
HP:0000315	Abnormality of the orbital region	668	FOXL2	ORPHA:572333
HP:0000315	Abnormality of the orbital region	4692	NDN	ORPHA:177904
HP:0000315	Abnormality of the orbital region	4692	NDN	ORPHA:177901
HP:0000315	Abnormality of the orbital region	4692	NDN	ORPHA:98754
HP:0000315	Abnormality of the orbital region	10300	KATNB1	OMIM:616212
HP:0000315	Abnormality of the orbital region	84520	GON7	OMIM:619603
HP:0000315	Abnormality of the orbital region	2255	FGF10	OMIM:620193
HP:0000315	Abnormality of the orbital region	2255	FGF10	ORPHA:2363
HP:0000315	Abnormality of the orbital region	341640	FREM2	ORPHA:2052
HP:0000315	Abnormality of the orbital region	23426	GRIP1	ORPHA:2052
HP:0000315	Abnormality of the orbital region	8295	TRRAP	OMIM:618454
HP:0000315	Abnormality of the orbital region	6651	SON	ORPHA:500150
HP:0000315	Abnormality of the orbital region	387	RHOA	OMIM:618727
HP:0000315	Abnormality of the orbital region	84570	COL25A1	ORPHA:91411
HP:0000315	Abnormality of the orbital region	79776	ZFHX4	ORPHA:91411
HP:0000315	Abnormality of the orbital region	5428	POLG	ORPHA:298
HP:0000315	Abnormality of the orbital region	1890	TYMP	ORPHA:298
HP:0000315	Abnormality of the orbital region	3980	LIG3	ORPHA:298
HP:0000315	Abnormality of the orbital region	50484	RRM2B	ORPHA:298
HP:0000315	Abnormality of the orbital region	9782	MATR3	ORPHA:600
HP:0000315	Abnormality of the orbital region	51621	KLF13	OMIM:612001
HP:0000315	Abnormality of the orbital region	7428	VHL	ORPHA:892
HP:0000315	Abnormality of the orbital region	7428	VHL	ORPHA:29072
HP:0000315	Abnormality of the orbital region	7428	VHL	OMIM:193300
HP:0000315	Abnormality of the orbital region	595	CCND1	ORPHA:892
HP:0000315	Abnormality of the orbital region	595	CCND1	OMIM:193300
HP:0000315	Abnormality of the orbital region	1743	DLST	ORPHA:29072
HP:0000315	Abnormality of the orbital region	4191	MDH2	ORPHA:29072
HP:0000315	Abnormality of the orbital region	6389	SDHA	ORPHA:29072
HP:0000315	Abnormality of the orbital region	23095	KIF1B	ORPHA:29072
HP:0000315	Abnormality of the orbital region	2271	FH	ORPHA:29072
HP:0000315	Abnormality of the orbital region	8402	SLC25A11	ORPHA:29072
HP:0000315	Abnormality of the orbital region	54949	SDHAF2	ORPHA:29072
HP:0000315	Abnormality of the orbital region	55654	TMEM127	ORPHA:29072
HP:0000315	Abnormality of the orbital region	4149	MAX	ORPHA:29072
HP:0000315	Abnormality of the orbital region	2956	MSH6	OMIM:619097
HP:0000315	Abnormality of the orbital region	4771	NF2	OMIM:101000
HP:0000315	Abnormality of the orbital region	80324	PUS1	OMIM:600462
HP:0000315	Abnormality of the orbital region	80324	PUS1	ORPHA:2598
HP:0000315	Abnormality of the orbital region	51067	YARS2	ORPHA:2598
HP:0000315	Abnormality of the orbital region	3664	IRF6	OMIM:119500
HP:0000315	Abnormality of the orbital region	3664	IRF6	ORPHA:1300
HP:0000315	Abnormality of the orbital region	22858	CILK1	OMIM:612651
HP:0000315	Abnormality of the orbital region	30062	RAX	OMIM:611038
HP:0000315	Abnormality of the orbital region	1147	CHUK	OMIM:619339
HP:0000315	Abnormality of the orbital region	54880	BCOR	ORPHA:568
HP:0000315	Abnormality of the orbital region	50940	PDE11A	ORPHA:1359
HP:0000315	Abnormality of the orbital region	25	ABL1	OMIM:617602
HP:0000315	Abnormality of the orbital region	54840	APTX	ORPHA:1168
HP:0000315	Abnormality of the orbital region	92482	BBIP1	ORPHA:110
HP:0000315	Abnormality of the orbital region	80184	CEP290	ORPHA:110
HP:0000315	Abnormality of the orbital region	11020	IFT27	ORPHA:110
HP:0000315	Abnormality of the orbital region	582	BBS1	ORPHA:110
HP:0000315	Abnormality of the orbital region	49855	SCAPER	ORPHA:110
HP:0000315	Abnormality of the orbital region	4867	NPHP1	ORPHA:110
HP:0000315	Abnormality of the orbital region	51057	WDPCP	ORPHA:110
HP:0000315	Abnormality of the orbital region	27241	BBS9	ORPHA:110
HP:0000315	Abnormality of the orbital region	84984	CEP19	ORPHA:110
HP:0000315	Abnormality of the orbital region	22954	TRIM32	ORPHA:110
HP:0000315	Abnormality of the orbital region	54903	MKS1	ORPHA:110
HP:0000315	Abnormality of the orbital region	79738	BBS10	ORPHA:110
HP:0000315	Abnormality of the orbital region	123016	TTC8	ORPHA:110
HP:0000315	Abnormality of the orbital region	26160	IFT172	ORPHA:110
HP:0000315	Abnormality of the orbital region	583	BBS2	ORPHA:110
HP:0000315	Abnormality of the orbital region	585	BBS4	ORPHA:110
HP:0000315	Abnormality of the orbital region	8195	MKKS	ORPHA:110
HP:0000315	Abnormality of the orbital region	54585	LZTFL1	ORPHA:110
HP:0000315	Abnormality of the orbital region	55212	BBS7	ORPHA:110
HP:0000315	Abnormality of the orbital region	166379	BBS12	ORPHA:110
HP:0000315	Abnormality of the orbital region	10806	SDCCAG8	ORPHA:110
HP:0000315	Abnormality of the orbital region	157657	CFAP418	ORPHA:110
HP:0000315	Abnormality of the orbital region	84100	ARL6	ORPHA:110
HP:0000315	Abnormality of the orbital region	129880	BBS5	ORPHA:110
HP:0000315	Abnormality of the orbital region	80173	IFT74	ORPHA:110
HP:0000315	Abnormality of the orbital region	118924	FRA10AC1	OMIM:620113
HP:0000315	Abnormality of the orbital region	5587	PRKD1	OMIM:617364
HP:0000315	Abnormality of the orbital region	2934	GSN	ORPHA:85448
HP:0000315	Abnormality of the orbital region	30008	EFEMP2	ORPHA:90349
HP:0000315	Abnormality of the orbital region	10516	FBLN5	ORPHA:90349
HP:0000315	Abnormality of the orbital region	5293	PIK3CD	ORPHA:221139
HP:0000315	Abnormality of the orbital region	90417	KNSTRN	ORPHA:221139
HP:0000315	Abnormality of the orbital region	4047	LSS	OMIM:618275
HP:0000315	Abnormality of the orbital region	80326	WNT10A	OMIM:150400
HP:0000315	Abnormality of the orbital region	29968	PSAT1	OMIM:616038
HP:0000315	Abnormality of the orbital region	26227	PHGDH	OMIM:256520
HP:0000315	Abnormality of the orbital region	10588	MTHFS	OMIM:618367
HP:0000315	Abnormality of the orbital region	93986	FOXP2	ORPHA:209908
HP:0000315	Abnormality of the orbital region	253959	RALGAPA1	OMIM:618797
HP:0000315	Abnormality of the orbital region	25871	NEPRO	OMIM:618853
HP:0000315	Abnormality of the orbital region	6602	SMARCD1	ORPHA:1465
HP:0000315	Abnormality of the orbital region	147912	SIX5	ORPHA:107
HP:0000315	Abnormality of the orbital region	3162	HMOX1	OMIM:614034
HP:0000315	Abnormality of the orbital region	7994	KAT6A	OMIM:616268
HP:0000315	Abnormality of the orbital region	22907	DHX30	OMIM:617804
HP:0000315	Abnormality of the orbital region	55315	SLC29A3	ORPHA:168569
HP:0000315	Abnormality of the orbital region	116931	MED12L	OMIM:618872
HP:0000315	Abnormality of the orbital region	54453	RIN2	ORPHA:217335
HP:0000315	Abnormality of the orbital region	22827	PUF60	ORPHA:508498
HP:0000315	Abnormality of the orbital region	91949	COG7	OMIM:608779
HP:0000315	Abnormality of the orbital region	51574	LARP7	OMIM:615071
HP:0000315	Abnormality of the orbital region	51574	LARP7	ORPHA:319671
HP:0000315	Abnormality of the orbital region	8367	H4C5	OMIM:619950
HP:0000315	Abnormality of the orbital region	60529	ALX4	OMIM:613451
HP:0000315	Abnormality of the orbital region	220	ALDH1A3	OMIM:615113
HP:0000315	Abnormality of the orbital region	23394	ADNP	OMIM:615873
HP:0000315	Abnormality of the orbital region	55627	SMPD4	OMIM:618622
HP:0000315	Abnormality of the orbital region	145173	B3GLCT	ORPHA:709
HP:0000315	Abnormality of the orbital region	3703	STT3A	OMIM:619714
HP:0000315	Abnormality of the orbital region	5575	PRKAR1B	OMIM:619680
HP:0000315	Abnormality of the orbital region	7707	ZNF148	OMIM:617260
HP:0000315	Abnormality of the orbital region	6662	SOX9	OMIM:114290
HP:0000315	Abnormality of the orbital region	10982	MAPRE2	OMIM:616734
HP:0000315	Abnormality of the orbital region	29072	SETD2	OMIM:620157
HP:0000315	Abnormality of the orbital region	29072	SETD2	OMIM:620155
HP:0000315	Abnormality of the orbital region	55780	ERMARD	ORPHA:75857
HP:0000315	Abnormality of the orbital region	57231	SNX14	ORPHA:397709
HP:0000315	Abnormality of the orbital region	57231	SNX14	OMIM:616354
HP:0000315	Abnormality of the orbital region	4297	KMT2A	OMIM:605130
HP:0000315	Abnormality of the orbital region	4297	KMT2A	ORPHA:319182
HP:0000315	Abnormality of the orbital region	56992	KIF15	ORPHA:261323
HP:0000315	Abnormality of the orbital region	284058	KANSL1	ORPHA:363958
HP:0000315	Abnormality of the orbital region	284058	KANSL1	ORPHA:363965
HP:0000315	Abnormality of the orbital region	4998	ORC1	OMIM:224690
HP:0000315	Abnormality of the orbital region	3899	AFF3	OMIM:619297
HP:0000315	Abnormality of the orbital region	54496	PRMT7	OMIM:617157
HP:0000315	Abnormality of the orbital region	81788	NUAK2	OMIM:619452
HP:0000315	Abnormality of the orbital region	1108	CHD4	OMIM:617159
HP:0000315	Abnormality of the orbital region	7841	MOGS	OMIM:606056
HP:0000315	Abnormality of the orbital region	7841	MOGS	ORPHA:79330
HP:0000315	Abnormality of the orbital region	672	BRCA1	ORPHA:84
HP:0000315	Abnormality of the orbital region	10459	MAD2L2	ORPHA:84
HP:0000315	Abnormality of the orbital region	7516	XRCC2	ORPHA:84
HP:0000315	Abnormality of the orbital region	29089	UBE2T	ORPHA:84
HP:0000315	Abnormality of the orbital region	675	BRCA2	ORPHA:84
HP:0000315	Abnormality of the orbital region	55120	FANCL	ORPHA:84
HP:0000315	Abnormality of the orbital region	2177	FANCD2	ORPHA:84
HP:0000315	Abnormality of the orbital region	2175	FANCA	ORPHA:84
HP:0000315	Abnormality of the orbital region	2187	FANCB	ORPHA:84
HP:0000315	Abnormality of the orbital region	2176	FANCC	ORPHA:84
HP:0000315	Abnormality of the orbital region	2178	FANCE	ORPHA:84
HP:0000315	Abnormality of the orbital region	2188	FANCF	ORPHA:84
HP:0000315	Abnormality of the orbital region	2189	FANCG	ORPHA:84
HP:0000315	Abnormality of the orbital region	5888	RAD51	ORPHA:84
HP:0000315	Abnormality of the orbital region	5889	RAD51C	ORPHA:84
HP:0000315	Abnormality of the orbital region	55159	RFWD3	ORPHA:84
HP:0000315	Abnormality of the orbital region	83990	BRIP1	ORPHA:84
HP:0000315	Abnormality of the orbital region	57697	FANCM	ORPHA:84
HP:0000315	Abnormality of the orbital region	79728	PALB2	ORPHA:84
HP:0000315	Abnormality of the orbital region	84464	SLX4	ORPHA:84
HP:0000315	Abnormality of the orbital region	84464	SLX4	OMIM:613951
HP:0000315	Abnormality of the orbital region	2072	ERCC4	ORPHA:84
HP:0000315	Abnormality of the orbital region	55215	FANCI	ORPHA:84
HP:0000315	Abnormality of the orbital region	3759	KCNJ2	OMIM:170390
HP:0000315	Abnormality of the orbital region	3759	KCNJ2	ORPHA:37553
HP:0000315	Abnormality of the orbital region	5422	POLA1	OMIM:301030
HP:0000315	Abnormality of the orbital region	6899	TBX1	OMIM:188400
HP:0000315	Abnormality of the orbital region	64919	BCL11B	OMIM:618092
HP:0000315	Abnormality of the orbital region	64919	BCL11B	OMIM:617237
HP:0000315	Abnormality of the orbital region	3977	LIFR	OMIM:601559
HP:0000315	Abnormality of the orbital region	26053	AUTS2	ORPHA:352490
HP:0000315	Abnormality of the orbital region	26053	AUTS2	OMIM:615834
HP:0000315	Abnormality of the orbital region	84314	TMEM107	OMIM:617563
HP:0000315	Abnormality of the orbital region	26040	SETBP1	OMIM:616078
HP:0000315	Abnormality of the orbital region	3188	HNRNPH2	OMIM:300986
HP:0000315	Abnormality of the orbital region	4613	MYCN	OMIM:164280
HP:0000315	Abnormality of the orbital region	4613	MYCN	ORPHA:391641
HP:0000315	Abnormality of the orbital region	57167	SALL4	ORPHA:959
HP:0000315	Abnormality of the orbital region	57167	SALL4	ORPHA:233
HP:0000315	Abnormality of the orbital region	79633	FAT4	OMIM:615546
HP:0000315	Abnormality of the orbital region	54551	MAGEL2	OMIM:615547
HP:0000315	Abnormality of the orbital region	89910	UBE3B	ORPHA:2707
HP:0000315	Abnormality of the orbital region	25942	SIN3A	OMIM:613406
HP:0000315	Abnormality of the orbital region	8642	DCHS1	OMIM:601390
HP:0000315	Abnormality of the orbital region	2697	GJA1	OMIM:164200
HP:0000315	Abnormality of the orbital region	2697	GJA1	OMIM:257850
HP:0000315	Abnormality of the orbital region	29980	DONSON	OMIM:251230
HP:0000315	Abnormality of the orbital region	8241	RBM10	OMIM:311900
HP:0000315	Abnormality of the orbital region	8241	RBM10	ORPHA:2886
HP:0000315	Abnormality of the orbital region	9935	MAFB	ORPHA:233
HP:0000315	Abnormality of the orbital region	1123	CHN1	ORPHA:233
HP:0000315	Abnormality of the orbital region	4593	MUSK	OMIM:208150
HP:0000315	Abnormality of the orbital region	29957	SLC25A24	OMIM:612289
HP:0000315	Abnormality of the orbital region	25885	POLR1A	ORPHA:1200
HP:0000315	Abnormality of the orbital region	10907	TXNL4A	ORPHA:1200
HP:0000315	Abnormality of the orbital region	10907	TXNL4A	OMIM:608572
HP:0000315	Abnormality of the orbital region	4659	PPP1R12A	OMIM:618820
HP:0000315	Abnormality of the orbital region	8239	USP9X	ORPHA:480880
HP:0000315	Abnormality of the orbital region	8239	USP9X	OMIM:300968
HP:0000315	Abnormality of the orbital region	81031	SLC2A10	ORPHA:3342
HP:0000315	Abnormality of the orbital region	81031	SLC2A10	OMIM:208050
HP:0000315	Abnormality of the orbital region	23137	SMC5	OMIM:620185
HP:0000315	Abnormality of the orbital region	10236	HNRNPR	OMIM:620073
HP:0000315	Abnormality of the orbital region	6595	SMARCA2	ORPHA:3051
HP:0000315	Abnormality of the orbital region	203068	TUBB	OMIM:156610
HP:0000315	Abnormality of the orbital region	8567	MADD	OMIM:619004
HP:0000315	Abnormality of the orbital region	8567	MADD	OMIM:619005
HP:0000315	Abnormality of the orbital region	7358	UGDH	OMIM:618792
HP:0000315	Abnormality of the orbital region	9702	CEP57	OMIM:614114
HP:0000315	Abnormality of the orbital region	3845	KRAS	ORPHA:3339
HP:0000315	Abnormality of the orbital region	10472	ZBTB18	OMIM:612337
HP:0000315	Abnormality of the orbital region	64093	SMOC1	OMIM:206920
HP:0000315	Abnormality of the orbital region	388015	RTL1	ORPHA:96334
HP:0000315	Abnormality of the orbital region	8788	DLK1	ORPHA:96334
HP:0000315	Abnormality of the orbital region	55384	MEG3	ORPHA:96334
HP:0000315	Abnormality of the orbital region	51322	WAC	ORPHA:284169
HP:0000315	Abnormality of the orbital region	8218	CLTCL1	ORPHA:453510
HP:0000315	Abnormality of the orbital region	2186	BPTF	OMIM:617755
HP:0000315	Abnormality of the orbital region	4000	LMNA	ORPHA:1662
HP:0000315	Abnormality of the orbital region	10269	ZMPSTE24	ORPHA:1662
HP:0000315	Abnormality of the orbital region	10269	ZMPSTE24	OMIM:275210
HP:0000315	Abnormality of the orbital region	23219	FBXO28	OMIM:619777
HP:0000315	Abnormality of the orbital region	23522	KAT6B	ORPHA:3047
HP:0000315	Abnormality of the orbital region	1387	CREBBP	OMIM:618332
HP:0000315	Abnormality of the orbital region	6913	TBX15	OMIM:260660
HP:0000315	Abnormality of the orbital region	55553	SOX6	OMIM:618971
HP:0000315	Abnormality of the orbital region	2033	EP300	OMIM:618333
HP:0000315	Abnormality of the orbital region	8621	CDK13	OMIM:617360
HP:0000315	Abnormality of the orbital region	23404	EXOSC2	OMIM:617763
HP:0000315	Abnormality of the orbital region	79228	THOC6	OMIM:613680
HP:0000315	Abnormality of the orbital region	2702	GJA5	OMIM:612474
HP:0000315	Abnormality of the orbital region	2703	GJA8	OMIM:612474
HP:0000315	Abnormality of the orbital region	1642	DDB1	OMIM:619426
HP:0000315	Abnormality of the orbital region	6664	SOX11	OMIM:615866
HP:0000315	Abnormality of the orbital region	63895	PIEZO2	ORPHA:2461
HP:0000315	Abnormality of the orbital region	3516	RBPJ	OMIM:614814
HP:0000315	Abnormality of the orbital region	246329	STAC3	OMIM:255995
HP:0000315	Abnormality of the orbital region	3762	KCNJ5	ORPHA:37553
HP:0000315	Abnormality of the orbital region	4089	SMAD4	ORPHA:2588
HP:0000315	Abnormality of the orbital region	10075	HUWE1	OMIM:309590
HP:0000315	Abnormality of the orbital region	3458	IFNG	ORPHA:805
HP:0000315	Abnormality of the orbital region	7248	TSC1	ORPHA:805
HP:0000315	Abnormality of the orbital region	7249	TSC2	ORPHA:805
HP:0000315	Abnormality of the orbital region	999	CDH1	OMIM:119580
HP:0000315	Abnormality of the orbital region	999	CDH1	ORPHA:1997
HP:0000315	Abnormality of the orbital region	1500	CTNND1	OMIM:617681
HP:0000315	Abnormality of the orbital region	1500	CTNND1	ORPHA:1997
HP:0000315	Abnormality of the orbital region	444	ASPH	OMIM:601552
HP:0000315	Abnormality of the orbital region	6925	TCF4	OMIM:610954
HP:0000315	Abnormality of the orbital region	1180	CLCN1	OMIM:160800
HP:0000315	Abnormality of the orbital region	1180	CLCN1	OMIM:255700
HP:0000315	Abnormality of the orbital region	55768	NGLY1	ORPHA:404454
HP:0000315	Abnormality of the orbital region	3321	IGSF3	OMIM:149700
HP:0000315	Abnormality of the orbital region	6452	SH3BP2	OMIM:118400
HP:0000315	Abnormality of the orbital region	28234	SLCO1B3	ORPHA:3111
HP:0000315	Abnormality of the orbital region	10599	SLCO1B1	ORPHA:3111
HP:0000315	Abnormality of the orbital region	5314	PKHD1	ORPHA:53035
HP:0000315	Abnormality of the orbital region	3909	LAMA3	OMIM:245660
HP:0000315	Abnormality of the orbital region	27316	RBMX	OMIM:300238
HP:0000315	Abnormality of the orbital region	55621	TRMT1	OMIM:618302
HP:0000315	Abnormality of the orbital region	388662	SLC6A17	ORPHA:457212
HP:0000315	Abnormality of the orbital region	388662	SLC6A17	OMIM:616269
HP:0000315	Abnormality of the orbital region	5238	PGM3	ORPHA:443811
HP:0000315	Abnormality of the orbital region	55165	CEP55	OMIM:236500
HP:0000315	Abnormality of the orbital region	23030	KDM4B	OMIM:619320
HP:0000315	Abnormality of the orbital region	5831	PYCR1	OMIM:614438
HP:0000315	Abnormality of the orbital region	9993	DGCR2	OMIM:192430
HP:0000315	Abnormality of the orbital region	8220	ESS2	OMIM:192430
HP:0000315	Abnormality of the orbital region	8214	DGCR6	OMIM:192430
HP:0000315	Abnormality of the orbital region	54487	DGCR8	OMIM:192430
HP:0000315	Abnormality of the orbital region	26153	KIF26A	OMIM:620156
HP:0000315	Abnormality of the orbital region	2556	GABRA3	OMIM:301091
HP:0000315	Abnormality of the orbital region	84295	PHF6	OMIM:301900
HP:0000315	Abnormality of the orbital region	23162	MAPK8IP3	OMIM:618443
HP:0000315	Abnormality of the orbital region	8913	CACNA1G	OMIM:618087
HP:0000315	Abnormality of the orbital region	5116	PCNT	ORPHA:2637
HP:0000315	Abnormality of the orbital region	9969	MED13	OMIM:618009
HP:0000315	Abnormality of the orbital region	7703	PCGF2	OMIM:618371
HP:0000315	Abnormality of the orbital region	11133	KPTN	ORPHA:397612
HP:0000315	Abnormality of the orbital region	55714	TENM3	OMIM:615145
HP:0000315	Abnormality of the orbital region	8550	MAPKAPK5	OMIM:619869
HP:0000315	Abnormality of the orbital region	57572	DOCK6	OMIM:614219
HP:0000315	Abnormality of the orbital region	5934	RBL2	OMIM:619690
HP:0000315	Abnormality of the orbital region	6507	SLC1A3	ORPHA:2131
HP:0000315	Abnormality of the orbital region	8318	CDC45	OMIM:617063
HP:0000315	Abnormality of the orbital region	10157	AASS	ORPHA:2203
HP:0000315	Abnormality of the orbital region	147495	APCDD1	OMIM:605389
HP:0000315	Abnormality of the orbital region	147495	APCDD1	ORPHA:55654
HP:0000315	Abnormality of the orbital region	267010	RNU12	OMIM:603116
HP:0000315	Abnormality of the orbital region	1825	DSC3	OMIM:613102
HP:0000315	Abnormality of the orbital region	3872	KRT17	OMIM:167210
HP:0000315	Abnormality of the orbital region	9076	CLDN1	ORPHA:59303
HP:0000315	Abnormality of the orbital region	9076	CLDN1	OMIM:607626
HP:0000315	Abnormality of the orbital region	22845	DOLK	OMIM:610768
HP:0000315	Abnormality of the orbital region	7286	TUFT1	OMIM:607655
HP:0000315	Abnormality of the orbital region	374393	FAM111B	OMIM:615704
HP:0000315	Abnormality of the orbital region	200879	LIPH	OMIM:604379
HP:0000315	Abnormality of the orbital region	200879	LIPH	ORPHA:55654
HP:0000315	Abnormality of the orbital region	3675	ITGA3	OMIM:614748
HP:0000315	Abnormality of the orbital region	10913	EDAR	OMIM:129490
HP:0000315	Abnormality of the orbital region	10913	EDAR	OMIM:224900
HP:0000315	Abnormality of the orbital region	10161	LPAR6	ORPHA:55654
HP:0000315	Abnormality of the orbital region	10161	LPAR6	OMIM:278150
HP:0000315	Abnormality of the orbital region	25959	KANK2	OMIM:616099
HP:0000315	Abnormality of the orbital region	11005	SPINK5	OMIM:256500
HP:0000315	Abnormality of the orbital region	11005	SPINK5	ORPHA:634
HP:0000315	Abnormality of the orbital region	54676	GTPBP2	OMIM:617988
HP:0000315	Abnormality of the orbital region	79971	WLS	OMIM:619648
HP:0000315	Abnormality of the orbital region	7480	WNT10B	OMIM:617073
HP:0000315	Abnormality of the orbital region	8815	BANF1	OMIM:614008
HP:0000315	Abnormality of the orbital region	120766137	HRURF	OMIM:146550
HP:0000315	Abnormality of the orbital region	7227	TRPS1	ORPHA:77258
HP:0000315	Abnormality of the orbital region	7045	TGFBI	OMIM:608470
HP:0000315	Abnormality of the orbital region	5457	POU4F1	ORPHA:314647
HP:0000315	Abnormality of the orbital region	83550	GPR101	ORPHA:963
HP:0000315	Abnormality of the orbital region	9049	AIP	ORPHA:963
HP:0000315	Abnormality of the orbital region	7512	XPNPEP2	ORPHA:100057
HP:0000315	Abnormality of the orbital region	5723	PSPH	ORPHA:79350
HP:0000315	Abnormality of the orbital region	3858	KRT10	ORPHA:312
HP:0000315	Abnormality of the orbital region	3848	KRT1	ORPHA:312
HP:0000315	Abnormality of the orbital region	10483	SEC23B	ORPHA:201
HP:0000315	Abnormality of the orbital region	6390	SDHB	ORPHA:201
HP:0000315	Abnormality of the orbital region	6392	SDHD	ORPHA:201
HP:0000315	Abnormality of the orbital region	6391	SDHC	ORPHA:201
HP:0000315	Abnormality of the orbital region	205717	USF3	ORPHA:201
HP:0000315	Abnormality of the orbital region	100144748	KLLN	ORPHA:201
HP:0000315	Abnormality of the orbital region	5015	OTX2	ORPHA:990
HP:0000315	Abnormality of the orbital region	64421	DCLRE1C	ORPHA:39041
HP:0000315	Abnormality of the orbital region	100	ADA	ORPHA:39041
HP:0000315	Abnormality of the orbital region	3575	IL7R	ORPHA:39041
HP:0000315	Abnormality of the orbital region	3561	IL2RG	ORPHA:39041
HP:0000315	Abnormality of the orbital region	80067	DCAF17	ORPHA:3464
HP:0000315	Abnormality of the orbital region	197	AHSG	ORPHA:2850
HP:0000315	Abnormality of the orbital region	3694	ITGB6	ORPHA:2850
HP:0000315	Abnormality of the orbital region	60401	EDA2R	ORPHA:181
HP:0000315	Abnormality of the orbital region	151516	ASPRV1	ORPHA:313
HP:0000315	Abnormality of the orbital region	242	ALOX12B	ORPHA:313
HP:0000315	Abnormality of the orbital region	126410	CYP4F22	ORPHA:313
HP:0000315	Abnormality of the orbital region	6820	SULT2B1	ORPHA:313
HP:0000315	Abnormality of the orbital region	26154	ABCA12	ORPHA:313
HP:0000315	Abnormality of the orbital region	643418	LIPN	ORPHA:313
HP:0000315	Abnormality of the orbital region	59344	ALOXE3	ORPHA:313
HP:0000315	Abnormality of the orbital region	348938	NIPAL4	ORPHA:313
HP:0000315	Abnormality of the orbital region	121214	SDR9C7	ORPHA:313
HP:0000315	Abnormality of the orbital region	7051	TGM1	ORPHA:313
HP:0000315	Abnormality of the orbital region	58508	KMT2C	ORPHA:261652
HP:0000315	Abnormality of the orbital region	79574	EPS8L3	ORPHA:444
HP:0000315	Abnormality of the orbital region	6144	RPL21	OMIM:615885
HP:0000315	Abnormality of the orbital region	6635	SNRPE	OMIM:615059
HP:0000315	Abnormality of the orbital region	8882	ZPR1	OMIM:619321
HP:0000315	Abnormality of the orbital region	7390	UROS	ORPHA:79277
HP:0000315	Abnormality of the orbital region	2623	GATA1	ORPHA:79277
HP:0000315	Abnormality of the orbital region	7389	UROD	ORPHA:95159
HP:0000492	Abnormal eyelid morphology	23019	CNOT1	OMIM:618500
HP:0000492	Abnormal eyelid morphology	7360	UGP2	OMIM:618744
HP:0000492	Abnormal eyelid morphology	84942	WDR73	OMIM:251300
HP:0000492	Abnormal eyelid morphology	51	ACOX1	ORPHA:2971
HP:0000492	Abnormal eyelid morphology	79848	CSPP1	ORPHA:397715
HP:0000492	Abnormal eyelid morphology	9786	KIAA0586	ORPHA:397715
HP:0000492	Abnormal eyelid morphology	51111	KMT5B	OMIM:617788
HP:0000492	Abnormal eyelid morphology	2624	GATA2	OMIM:614038
HP:0000492	Abnormal eyelid morphology	79639	TMEM53	OMIM:619727
HP:0000492	Abnormal eyelid morphology	129563	DIS3L2	ORPHA:2849
HP:0000492	Abnormal eyelid morphology	57728	WDR19	ORPHA:1515
HP:0000492	Abnormal eyelid morphology	57728	WDR19	OMIM:614378
HP:0000492	Abnormal eyelid morphology	6023	RMRP	ORPHA:175
HP:0000492	Abnormal eyelid morphology	57589	RIC1	OMIM:618761
HP:0000492	Abnormal eyelid morphology	9692	PRORP	OMIM:619737
HP:0000492	Abnormal eyelid morphology	1277	COL1A1	ORPHA:287
HP:0000492	Abnormal eyelid morphology	1277	COL1A1	ORPHA:1899
HP:0000492	Abnormal eyelid morphology	1290	COL5A2	ORPHA:287
HP:0000492	Abnormal eyelid morphology	1290	COL5A2	OMIM:130010
HP:0000492	Abnormal eyelid morphology	22884	WDR37	OMIM:618652
HP:0000492	Abnormal eyelid morphology	1656	DDX6	OMIM:618653
HP:0000492	Abnormal eyelid morphology	5442	POLRMT	OMIM:619743
HP:0000492	Abnormal eyelid morphology	80776	B9D2	OMIM:614175
HP:0000492	Abnormal eyelid morphology	3340	NDST1	OMIM:616116
HP:0000492	Abnormal eyelid morphology	55012	PPP2R3C	OMIM:618419
HP:0000492	Abnormal eyelid morphology	1186	CLCN7	OMIM:618541
HP:0000492	Abnormal eyelid morphology	54914	FOCAD	OMIM:619991
HP:0000492	Abnormal eyelid morphology	9841	ZBTB24	OMIM:614069
HP:0000492	Abnormal eyelid morphology	9841	ZBTB24	ORPHA:2268
HP:0000492	Abnormal eyelid morphology	3098	HK1	OMIM:618547
HP:0000492	Abnormal eyelid morphology	5979	RET	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	8516	ITGA8	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	26281	FGF20	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	2674	GFRA1	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	7484	WNT9B	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	80000	GREB1L	ORPHA:1848
HP:0000492	Abnormal eyelid morphology	5590	PRKCZ	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	2563	GABRD	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	8510	MMP23B	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	7798	LUZP1	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	10630	PDPN	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	10277	UBE4B	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	8514	KCNAB2	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	63976	PRDM16	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	54897	CASZ1	ORPHA:1606
HP:0000492	Abnormal eyelid morphology	6134	RPL10	ORPHA:459070
HP:0000492	Abnormal eyelid morphology	6134	RPL10	OMIM:300998
HP:0000492	Abnormal eyelid morphology	54828	BCAS3	OMIM:619641
HP:0000492	Abnormal eyelid morphology	6942	TCF20	OMIM:618430
HP:0000492	Abnormal eyelid morphology	2324	FLT4	ORPHA:79452
HP:0000492	Abnormal eyelid morphology	57165	GJC2	ORPHA:79452
HP:0000492	Abnormal eyelid morphology	57724	EPG5	OMIM:242840
HP:0000492	Abnormal eyelid morphology	5286	PIK3C2A	OMIM:618440
HP:0000492	Abnormal eyelid morphology	5286	PIK3C2A	ORPHA:557003
HP:0000492	Abnormal eyelid morphology	8565	YARS1	OMIM:619418
HP:0000492	Abnormal eyelid morphology	23499	MACF1	OMIM:618325
HP:0000492	Abnormal eyelid morphology	1107	CHD3	OMIM:618205
HP:0000492	Abnormal eyelid morphology	374969	SVBP	OMIM:618569
HP:0000492	Abnormal eyelid morphology	7476	WNT7A	OMIM:276820
HP:0000492	Abnormal eyelid morphology	404672	GTF2H5	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	833	CARS1	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	7737	RNF113A	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	136647	MPLKIP	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	136647	MPLKIP	OMIM:234050
HP:0000492	Abnormal eyelid morphology	6897	TARS1	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	2961	GTF2E2	ORPHA:33364
HP:0000492	Abnormal eyelid morphology	79087	ALG12	ORPHA:79324
HP:0000492	Abnormal eyelid morphology	79087	ALG12	OMIM:607143
HP:0000492	Abnormal eyelid morphology	10195	ALG3	OMIM:601110
HP:0000492	Abnormal eyelid morphology	257	ALX3	OMIM:136760
HP:0000492	Abnormal eyelid morphology	257	ALX3	ORPHA:391474
HP:0000492	Abnormal eyelid morphology	6135	RPL11	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6138	RPL15	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6229	RPS24	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6125	RPL5	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6204	RPS10	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6224	RPS20	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6165	RPL35A	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6232	RPS27	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6231	RPS26	ORPHA:124
HP:0000492	Abnormal eyelid morphology	11224	RPL35	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6160	RPL31	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6218	RPS17	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6201	RPS7	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6155	RPL27	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6210	RPS15A	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6141	RPL18	ORPHA:124
HP:0000492	Abnormal eyelid morphology	6235	RPS29	ORPHA:124
HP:0000492	Abnormal eyelid morphology	51816	ADA2	ORPHA:124
HP:0000492	Abnormal eyelid morphology	26173	INTS1	OMIM:618571
HP:0000492	Abnormal eyelid morphology	51117	COQ4	OMIM:616276
HP:0000492	Abnormal eyelid morphology	164	AP1G1	OMIM:619548
HP:0000492	Abnormal eyelid morphology	6857	SYT1	OMIM:618218
HP:0000492	Abnormal eyelid morphology	6857	SYT1	ORPHA:522077
HP:0000492	Abnormal eyelid morphology	6929	TCF3	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	973	CD79A	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	974	CD79B	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	3543	IGLL1	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	3507	IGHM	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	29760	BLNK	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	56262	LRRC8A	ORPHA:33110
HP:0000492	Abnormal eyelid morphology	56262	LRRC8A	OMIM:613506
HP:0000492	Abnormal eyelid morphology	84706	GPT2	OMIM:616281
HP:0000492	Abnormal eyelid morphology	5898	RALA	OMIM:619311
HP:0000492	Abnormal eyelid morphology	6909	TBX2	OMIM:618223
HP:0000492	Abnormal eyelid morphology	57102	C12orf4	OMIM:618221
HP:0000492	Abnormal eyelid morphology	10785	WDR4	OMIM:618347
HP:0000492	Abnormal eyelid morphology	55628	ZNF407	OMIM:619557
HP:0000492	Abnormal eyelid morphology	56623	INPP5E	OMIM:213300
HP:0000492	Abnormal eyelid morphology	5515	PPP2CA	OMIM:618354
HP:0000492	Abnormal eyelid morphology	26275	HIBCH	ORPHA:88639
HP:0000492	Abnormal eyelid morphology	26275	HIBCH	OMIM:250620
HP:0000492	Abnormal eyelid morphology	5980	REV3L	ORPHA:570
HP:0000492	Abnormal eyelid morphology	23129	PLXND1	ORPHA:570
HP:0000492	Abnormal eyelid morphology	2334	AFF2	OMIM:309548
HP:0000492	Abnormal eyelid morphology	2334	AFF2	ORPHA:100973
HP:0000492	Abnormal eyelid morphology	4141	MARS1	OMIM:619692
HP:0000492	Abnormal eyelid morphology	4125	MAN2B1	OMIM:248500
HP:0000492	Abnormal eyelid morphology	1822	ATN1	OMIM:618494
HP:0000492	Abnormal eyelid morphology	5573	PRKAR1A	OMIM:101800
HP:0000492	Abnormal eyelid morphology	5573	PRKAR1A	ORPHA:950
HP:0000492	Abnormal eyelid morphology	9851	KIAA0753	OMIM:619476
HP:0000492	Abnormal eyelid morphology	9851	KIAA0753	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	65250	CPLANE1	OMIM:277170
HP:0000492	Abnormal eyelid morphology	65250	CPLANE1	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	57465	TBC1D24	ORPHA:79500
HP:0000492	Abnormal eyelid morphology	57465	TBC1D24	OMIM:220500
HP:0000492	Abnormal eyelid morphology	2132	EXT2	ORPHA:52022
HP:0000492	Abnormal eyelid morphology	51317	PHF21A	ORPHA:52022
HP:0000492	Abnormal eyelid morphology	1457	CSNK2A1	OMIM:617062
HP:0000492	Abnormal eyelid morphology	2222	FDFT1	OMIM:618156
HP:0000492	Abnormal eyelid morphology	57477	SHROOM4	ORPHA:85288
HP:0000492	Abnormal eyelid morphology	10220	GDF11	OMIM:619122
HP:0000492	Abnormal eyelid morphology	226	ALDOA	OMIM:611881
HP:0000492	Abnormal eyelid morphology	3090	HIC1	ORPHA:531
HP:0000492	Abnormal eyelid morphology	23154	NCDN	OMIM:619373
HP:0000492	Abnormal eyelid morphology	84231	TRAF7	OMIM:618164
HP:0000492	Abnormal eyelid morphology	89970	RSPRY1	ORPHA:457395
HP:0000492	Abnormal eyelid morphology	89970	RSPRY1	OMIM:616723
HP:0000492	Abnormal eyelid morphology	51594	NBAS	OMIM:614800
HP:0000492	Abnormal eyelid morphology	54187	NANS	OMIM:610442
HP:0000492	Abnormal eyelid morphology	10020	GNE	ORPHA:3166
HP:0000492	Abnormal eyelid morphology	10020	GNE	OMIM:269921
HP:0000492	Abnormal eyelid morphology	10079	ATP9A	OMIM:620242
HP:0000492	Abnormal eyelid morphology	221927	BRAT1	OMIM:618056
HP:0000492	Abnormal eyelid morphology	168667	BMPER	OMIM:608022
HP:0000492	Abnormal eyelid morphology	8506	CNTNAP1	OMIM:618186
HP:0000492	Abnormal eyelid morphology	5393	EXOSC9	OMIM:618065
HP:0000492	Abnormal eyelid morphology	55112	DYNC2I1	ORPHA:93271
HP:0000492	Abnormal eyelid morphology	57560	IFT80	ORPHA:93271
HP:0000492	Abnormal eyelid morphology	79659	DYNC2H1	ORPHA:93271
HP:0000492	Abnormal eyelid morphology	89891	DYNC2I2	ORPHA:93271
HP:0000492	Abnormal eyelid morphology	55788	LMBRD1	OMIM:277380
HP:0000492	Abnormal eyelid morphology	28958	COA3	OMIM:619058
HP:0000492	Abnormal eyelid morphology	7490	WT1	OMIM:194080
HP:0000492	Abnormal eyelid morphology	3070	HELLS	ORPHA:2268
HP:0000492	Abnormal eyelid morphology	3070	HELLS	OMIM:616911
HP:0000492	Abnormal eyelid morphology	83879	CDCA7	ORPHA:2268
HP:0000492	Abnormal eyelid morphology	83879	CDCA7	OMIM:616910
HP:0000492	Abnormal eyelid morphology	53834	FGFRL1	OMIM:194190
HP:0000492	Abnormal eyelid morphology	51660	MPC1	OMIM:614741
HP:0000492	Abnormal eyelid morphology	147372	CCBE1	ORPHA:2136
HP:0000492	Abnormal eyelid morphology	147372	CCBE1	OMIM:235510
HP:0000492	Abnormal eyelid morphology	6329	SCN4A	ORPHA:99735
HP:0000492	Abnormal eyelid morphology	2255	FGF10	OMIM:620193
HP:0000492	Abnormal eyelid morphology	8050	PDHX	OMIM:245349
HP:0000492	Abnormal eyelid morphology	7355	SLC35A2	OMIM:300896
HP:0000492	Abnormal eyelid morphology	55275	VPS53	OMIM:615851
HP:0000492	Abnormal eyelid morphology	50945	TBX22	ORPHA:921
HP:0000492	Abnormal eyelid morphology	1144	CHRND	OMIM:253290
HP:0000492	Abnormal eyelid morphology	1134	CHRNA1	OMIM:253290
HP:0000492	Abnormal eyelid morphology	26123	TCTN3	OMIM:258860
HP:0000492	Abnormal eyelid morphology	26123	TCTN3	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	84627	ZNF469	OMIM:229200
HP:0000492	Abnormal eyelid morphology	9780	PIEZO1	OMIM:616843
HP:0000492	Abnormal eyelid morphology	5859	QARS1	OMIM:615760
HP:0000492	Abnormal eyelid morphology	169792	GLIS3	OMIM:610199
HP:0000492	Abnormal eyelid morphology	55033	FKBP14	OMIM:614557
HP:0000492	Abnormal eyelid morphology	5053	PAH	ORPHA:2209
HP:0000492	Abnormal eyelid morphology	4131	MAP1B	OMIM:618918
HP:0000492	Abnormal eyelid morphology	5925	RB1	ORPHA:1587
HP:0000492	Abnormal eyelid morphology	23511	NUP188	OMIM:618804
HP:0000492	Abnormal eyelid morphology	64131	XYLT1	OMIM:615777
HP:0000492	Abnormal eyelid morphology	54806	AHI1	OMIM:608629
HP:0000492	Abnormal eyelid morphology	84342	COG8	OMIM:611182
HP:0000492	Abnormal eyelid morphology	57511	COG6	OMIM:614576
HP:0000492	Abnormal eyelid morphology	83696	TRAPPC9	ORPHA:352530
HP:0000492	Abnormal eyelid morphology	7421	VDR	OMIM:277440
HP:0000492	Abnormal eyelid morphology	5062	PAK2	ORPHA:1571
HP:0000492	Abnormal eyelid morphology	139285	AMER1	ORPHA:2780
HP:0000492	Abnormal eyelid morphology	139285	AMER1	OMIM:300373
HP:0000492	Abnormal eyelid morphology	9361	LONP1	ORPHA:1458
HP:0000492	Abnormal eyelid morphology	10367	MICU1	OMIM:615673
HP:0000492	Abnormal eyelid morphology	51002	TPRKB	OMIM:617731
HP:0000492	Abnormal eyelid morphology	4796	TONSL	ORPHA:93357
HP:0000492	Abnormal eyelid morphology	6182	MRPL12	OMIM:618951
HP:0000492	Abnormal eyelid morphology	55704	CCDC88A	OMIM:617507
HP:0000492	Abnormal eyelid morphology	26503	SLC17A5	OMIM:269920
HP:0000492	Abnormal eyelid morphology	1663	DDX11	OMIM:613398
HP:0000492	Abnormal eyelid morphology	5455	POU3F3	OMIM:618604
HP:0000492	Abnormal eyelid morphology	9757	KMT2B	OMIM:619934
HP:0000492	Abnormal eyelid morphology	10210	TOPORS	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	5147	PDE6D	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	51259	TMEM216	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	317662	FAM149B1	ORPHA:2754
HP:0000492	Abnormal eyelid morphology	5087	PBX1	OMIM:617641
HP:0000492	Abnormal eyelid morphology	6736	SRY	ORPHA:1772
HP:0000492	Abnormal eyelid morphology	8449	DHX16	OMIM:618733
HP:0000492	Abnormal eyelid morphology	1278	COL1A2	ORPHA:1899
HP:0000492	Abnormal eyelid morphology	51360	MBTPS2	ORPHA:2273
HP:0000492	Abnormal eyelid morphology	1593	CYP27A1	ORPHA:909
HP:0000492	Abnormal eyelid morphology	5189	PEX1	ORPHA:3220
HP:0000492	Abnormal eyelid morphology	5190	PEX6	ORPHA:3220
HP:0000492	Abnormal eyelid morphology	4683	NBN	ORPHA:647
HP:0000492	Abnormal eyelid morphology	6843	VAMP1	ORPHA:251282
HP:0000492	Abnormal eyelid morphology	54539	NDUFB11	ORPHA:2556
HP:0000492	Abnormal eyelid morphology	1349	COX7B	ORPHA:2556
HP:0000492	Abnormal eyelid morphology	3052	HCCS	ORPHA:2556
HP:0000492	Abnormal eyelid morphology	55630	SLC39A4	ORPHA:37
HP:0000492	Abnormal eyelid morphology	1493	CTLA4	ORPHA:2584
HP:0000492	Abnormal eyelid morphology	940	CD28	ORPHA:2584
HP:0000492	Abnormal eyelid morphology	7133	TNFRSF1B	ORPHA:2584
HP:0000492	Abnormal eyelid morphology	1718	DHCR24	OMIM:602398
HP:0000492	Abnormal eyelid morphology	1718	DHCR24	ORPHA:35107
HP:0000492	Abnormal eyelid morphology	7528	YY1	ORPHA:506358
HP:0000492	Abnormal eyelid morphology	7528	YY1	OMIM:617557
HP:0000492	Abnormal eyelid morphology	8036	SHOC2	OMIM:607721
HP:0000492	Abnormal eyelid morphology	11253	MAN1B1	ORPHA:397941
HP:0000492	Abnormal eyelid morphology	11253	MAN1B1	OMIM:614202
HP:0000492	Abnormal eyelid morphology	26235	FBXL4	OMIM:615471
HP:0000492	Abnormal eyelid morphology	340533	NEXMIF	OMIM:300912
HP:0000492	Abnormal eyelid morphology	8294	H4C9	OMIM:619951
HP:0000492	Abnormal eyelid morphology	1139	CHRNA7	ORPHA:199318
HP:0000492	Abnormal eyelid morphology	8216	LZTR1	OMIM:616564
HP:0000492	Abnormal eyelid morphology	8216	LZTR1	ORPHA:648
HP:0000492	Abnormal eyelid morphology	8216	LZTR1	OMIM:605275
HP:0000492	Abnormal eyelid morphology	50651	SLC45A1	OMIM:617532
HP:0000492	Abnormal eyelid morphology	23334	SZT2	OMIM:615476
HP:0000492	Abnormal eyelid morphology	23334	SZT2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	6016	RIT1	OMIM:615355
HP:0000492	Abnormal eyelid morphology	6016	RIT1	ORPHA:648
HP:0000492	Abnormal eyelid morphology	1947	EFNB1	ORPHA:1520
HP:0000492	Abnormal eyelid morphology	1947	EFNB1	OMIM:304110
HP:0000492	Abnormal eyelid morphology	51126	NAA20	OMIM:619717
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	OMIM:149730
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	OMIM:123790
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	OMIM:101200
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	OMIM:101600
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	ORPHA:87
HP:0000492	Abnormal eyelid morphology	2263	FGFR2	ORPHA:1555
HP:0000492	Abnormal eyelid morphology	81857	MED25	OMIM:616449
HP:0000492	Abnormal eyelid morphology	81857	MED25	ORPHA:464738
HP:0000492	Abnormal eyelid morphology	5077	PAX3	ORPHA:1529
HP:0000492	Abnormal eyelid morphology	5077	PAX3	ORPHA:896
HP:0000492	Abnormal eyelid morphology	5077	PAX3	OMIM:122880
HP:0000492	Abnormal eyelid morphology	55209	SETD5	ORPHA:404440
HP:0000492	Abnormal eyelid morphology	55209	SETD5	OMIM:615761
HP:0000492	Abnormal eyelid morphology	10743	RAI1	ORPHA:477817
HP:0000492	Abnormal eyelid morphology	10743	RAI1	ORPHA:1713
HP:0000492	Abnormal eyelid morphology	116931	MED12L	OMIM:618872
HP:0000492	Abnormal eyelid morphology	9578	CDC42BPB	OMIM:619841
HP:0000492	Abnormal eyelid morphology	3020	H3-3A	OMIM:619720
HP:0000492	Abnormal eyelid morphology	80816	ASXL3	OMIM:615485
HP:0000492	Abnormal eyelid morphology	80816	ASXL3	ORPHA:352577
HP:0000492	Abnormal eyelid morphology	55790	CSGALNACT1	OMIM:618870
HP:0000492	Abnormal eyelid morphology	1723	DHODH	OMIM:263750
HP:0000492	Abnormal eyelid morphology	1723	DHODH	ORPHA:246
HP:0000492	Abnormal eyelid morphology	27245	AHDC1	ORPHA:412069
HP:0000492	Abnormal eyelid morphology	27245	AHDC1	OMIM:615829
HP:0000492	Abnormal eyelid morphology	55690	PACS1	OMIM:615009
HP:0000492	Abnormal eyelid morphology	55690	PACS1	ORPHA:329224
HP:0000492	Abnormal eyelid morphology	55904	KMT2E	OMIM:618512
HP:0000492	Abnormal eyelid morphology	5728	PTEN	ORPHA:2969
HP:0000492	Abnormal eyelid morphology	5728	PTEN	ORPHA:744
HP:0000492	Abnormal eyelid morphology	5728	PTEN	ORPHA:79076
HP:0000492	Abnormal eyelid morphology	23384	SPECC1L	ORPHA:1519
HP:0000492	Abnormal eyelid morphology	23384	SPECC1L	OMIM:145420
HP:0000492	Abnormal eyelid morphology	2590	GALNT2	OMIM:618885
HP:0000492	Abnormal eyelid morphology	54453	RIN2	OMIM:613075
HP:0000492	Abnormal eyelid morphology	54453	RIN2	ORPHA:217335
HP:0000492	Abnormal eyelid morphology	113189	CHST14	ORPHA:2953
HP:0000492	Abnormal eyelid morphology	113189	CHST14	OMIM:601776
HP:0000492	Abnormal eyelid morphology	29940	DSE	ORPHA:2953
HP:0000492	Abnormal eyelid morphology	29940	DSE	OMIM:615539
HP:0000492	Abnormal eyelid morphology	79029	AFG2B	OMIM:619616
HP:0000492	Abnormal eyelid morphology	7021	TFAP2B	ORPHA:46627
HP:0000492	Abnormal eyelid morphology	815	CAMK2A	OMIM:617798
HP:0000492	Abnormal eyelid morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000492	Abnormal eyelid morphology	23545	ATP6V0A2	OMIM:278250
HP:0000492	Abnormal eyelid morphology	23545	ATP6V0A2	OMIM:219200
HP:0000492	Abnormal eyelid morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000492	Abnormal eyelid morphology	4853	NOTCH2	OMIM:102500
HP:0000492	Abnormal eyelid morphology	4853	NOTCH2	ORPHA:955
HP:0000492	Abnormal eyelid morphology	9968	MED12	ORPHA:93932
HP:0000492	Abnormal eyelid morphology	9968	MED12	OMIM:305450
HP:0000492	Abnormal eyelid morphology	9968	MED12	OMIM:300895
HP:0000492	Abnormal eyelid morphology	10381	TUBB3	ORPHA:300570
HP:0000492	Abnormal eyelid morphology	157680	VPS13B	OMIM:216550
HP:0000492	Abnormal eyelid morphology	157680	VPS13B	ORPHA:193
HP:0000492	Abnormal eyelid morphology	2626	GATA4	ORPHA:251071
HP:0000492	Abnormal eyelid morphology	9401	RECQL4	OMIM:218600
HP:0000492	Abnormal eyelid morphology	6872	TAF1	ORPHA:480907
HP:0000492	Abnormal eyelid morphology	6872	TAF1	OMIM:300966
HP:0000492	Abnormal eyelid morphology	1105	CHD1	OMIM:617682
HP:0000492	Abnormal eyelid morphology	1105	CHD1	ORPHA:529965
HP:0000492	Abnormal eyelid morphology	8726	EED	OMIM:617561
HP:0000492	Abnormal eyelid morphology	8726	EED	ORPHA:3447
HP:0000492	Abnormal eyelid morphology	10815	CPLX1	ORPHA:280
HP:0000492	Abnormal eyelid morphology	54872	PIGG	ORPHA:280
HP:0000492	Abnormal eyelid morphology	7469	NELFA	ORPHA:280
HP:0000492	Abnormal eyelid morphology	1487	CTBP1	ORPHA:280
HP:0000492	Abnormal eyelid morphology	3954	LETM1	ORPHA:280
HP:0000492	Abnormal eyelid morphology	7468	NSD2	ORPHA:280
HP:0000492	Abnormal eyelid morphology	5159	PDGFRB	OMIM:616592
HP:0000492	Abnormal eyelid morphology	4330	MN1	OMIM:618774
HP:0000492	Abnormal eyelid morphology	1501	CTNND2	ORPHA:281
HP:0000492	Abnormal eyelid morphology	9037	SEMA5A	ORPHA:281
HP:0000492	Abnormal eyelid morphology	5528	PPP2R5D	OMIM:616355
HP:0000492	Abnormal eyelid morphology	5528	PPP2R5D	ORPHA:457279
HP:0000492	Abnormal eyelid morphology	57178	ZMIZ1	OMIM:618659
HP:0000492	Abnormal eyelid morphology	200734	SPRED2	OMIM:619745
HP:0000492	Abnormal eyelid morphology	200734	SPRED2	ORPHA:648
HP:0000492	Abnormal eyelid morphology	3737	KCNA2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	523	ATP6V1A	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	523	ATP6V1A	ORPHA:357074
HP:0000492	Abnormal eyelid morphology	523	ATP6V1A	OMIM:617403
HP:0000492	Abnormal eyelid morphology	10991	SLC38A3	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	51343	FZR1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	22906	TRAK1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2566	GABRG2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	1917	EEF1A2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	1917	EEF1A2	OMIM:616393
HP:0000492	Abnormal eyelid morphology	2561	GABRB2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	8831	SYNGAP1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	7532	YWHAG	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	79876	UBA5	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	6328	SCN3A	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2558	GABRA5	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	781	CACNA2D1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2906	GRIN2D	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	116150	NUS1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	10659	CELF2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	774	CACNA1B	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	1213	CLTC	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	51741	WWOX	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	51412	ACTL6B	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	348980	HCN1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	6506	SLC1A2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	8867	SYNJ1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2258	FGF13	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	477	ATP1A2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	3745	KCNB1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	284111	SLC13A5	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	25977	NECAP1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	16	AARS1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	6334	SCN8A	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	22866	CNKSR2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	9568	GABBR2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2555	GABRA2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	55152	DALRD3	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	773	CACNA1A	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	26999	CYFIP2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	4915	NTRK2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	25973	PARS2	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	23097	CDK19	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	64801	ARV1	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	79947	DHDDS	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	2257	FGF12	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	5530	PPP3CA	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	478	ATP1A3	ORPHA:442835
HP:0000492	Abnormal eyelid morphology	55623	THUMPD1	OMIM:619989
HP:0000492	Abnormal eyelid morphology	10716	TBR1	ORPHA:1617
HP:0000492	Abnormal eyelid morphology	4247	MGAT2	OMIM:212066
HP:0000492	Abnormal eyelid morphology	4247	MGAT2	ORPHA:79329
HP:0000492	Abnormal eyelid morphology	2316	FLNA	ORPHA:90650
HP:0000492	Abnormal eyelid morphology	2316	FLNA	ORPHA:90652
HP:0000492	Abnormal eyelid morphology	2316	FLNA	OMIM:304120
HP:0000492	Abnormal eyelid morphology	2316	FLNA	ORPHA:1826
HP:0000492	Abnormal eyelid morphology	2316	FLNA	OMIM:311300
HP:0000492	Abnormal eyelid morphology	2316	FLNA	OMIM:305620
HP:0000492	Abnormal eyelid morphology	2316	FLNA	OMIM:300048
HP:0000492	Abnormal eyelid morphology	3476	IGBP1	ORPHA:52055
HP:0000492	Abnormal eyelid morphology	3476	IGBP1	OMIM:300472
HP:0000492	Abnormal eyelid morphology	92482	BBIP1	ORPHA:110
HP:0000492	Abnormal eyelid morphology	80184	CEP290	ORPHA:110
HP:0000492	Abnormal eyelid morphology	11020	IFT27	ORPHA:110
HP:0000492	Abnormal eyelid morphology	582	BBS1	ORPHA:110
HP:0000492	Abnormal eyelid morphology	49855	SCAPER	ORPHA:110
HP:0000492	Abnormal eyelid morphology	4867	NPHP1	ORPHA:110
HP:0000492	Abnormal eyelid morphology	51057	WDPCP	ORPHA:110
HP:0000492	Abnormal eyelid morphology	27241	BBS9	ORPHA:110
HP:0000492	Abnormal eyelid morphology	84984	CEP19	ORPHA:110
HP:0000492	Abnormal eyelid morphology	22954	TRIM32	ORPHA:110
HP:0000492	Abnormal eyelid morphology	54903	MKS1	ORPHA:110
HP:0000492	Abnormal eyelid morphology	79738	BBS10	ORPHA:110
HP:0000492	Abnormal eyelid morphology	123016	TTC8	ORPHA:110
HP:0000492	Abnormal eyelid morphology	26160	IFT172	ORPHA:110
HP:0000492	Abnormal eyelid morphology	583	BBS2	ORPHA:110
HP:0000492	Abnormal eyelid morphology	585	BBS4	ORPHA:110
HP:0000492	Abnormal eyelid morphology	8195	MKKS	ORPHA:110
HP:0000492	Abnormal eyelid morphology	54585	LZTFL1	ORPHA:110
HP:0000492	Abnormal eyelid morphology	55212	BBS7	ORPHA:110
HP:0000492	Abnormal eyelid morphology	166379	BBS12	ORPHA:110
HP:0000492	Abnormal eyelid morphology	10806	SDCCAG8	ORPHA:110
HP:0000492	Abnormal eyelid morphology	157657	CFAP418	ORPHA:110
HP:0000492	Abnormal eyelid morphology	84100	ARL6	ORPHA:110
HP:0000492	Abnormal eyelid morphology	129880	BBS5	ORPHA:110
HP:0000492	Abnormal eyelid morphology	80173	IFT74	ORPHA:110
HP:0000492	Abnormal eyelid morphology	5518	PPP2R1A	OMIM:616362
HP:0000492	Abnormal eyelid morphology	253738	EBF3	OMIM:617330
HP:0000492	Abnormal eyelid morphology	23312	DMXL2	OMIM:618663
HP:0000492	Abnormal eyelid morphology	1182	CLCN3	OMIM:619512
HP:0000492	Abnormal eyelid morphology	23512	SUZ12	OMIM:618786
HP:0000492	Abnormal eyelid morphology	23512	SUZ12	ORPHA:3447
HP:0000492	Abnormal eyelid morphology	3590	IL11RA	OMIM:614188
HP:0000492	Abnormal eyelid morphology	7862	BRPF1	OMIM:617333
HP:0000492	Abnormal eyelid morphology	23126	POGZ	OMIM:616364
HP:0000492	Abnormal eyelid morphology	57680	CHD8	OMIM:615032
HP:0000492	Abnormal eyelid morphology	23461	ABCA5	OMIM:135400
HP:0000492	Abnormal eyelid morphology	8558	CDK10	OMIM:617694
HP:0000492	Abnormal eyelid morphology	3572	IL6ST	OMIM:619750
HP:0000492	Abnormal eyelid morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000492	Abnormal eyelid morphology	7531	YWHAE	ORPHA:217385
HP:0000492	Abnormal eyelid morphology	145258	GSC	OMIM:602471
HP:0000492	Abnormal eyelid morphology	85365	ALG2	ORPHA:79326
HP:0000492	Abnormal eyelid morphology	26137	ZBTB20	OMIM:259050
HP:0000492	Abnormal eyelid morphology	26137	ZBTB20	ORPHA:3042
HP:0000492	Abnormal eyelid morphology	8314	BAP1	OMIM:619762
HP:0000492	Abnormal eyelid morphology	7750	ZMYM2	OMIM:619522
HP:0000492	Abnormal eyelid morphology	27086	FOXP1	ORPHA:391372
HP:0000492	Abnormal eyelid morphology	27086	FOXP1	OMIM:613670
HP:0000492	Abnormal eyelid morphology	53335	BCL11A	OMIM:617101
HP:0000492	Abnormal eyelid morphology	4621	MYH3	OMIM:618436
HP:0000492	Abnormal eyelid morphology	4621	MYH3	OMIM:178110
HP:0000492	Abnormal eyelid morphology	4621	MYH3	ORPHA:2053
HP:0000492	Abnormal eyelid morphology	4621	MYH3	ORPHA:2990
HP:0000492	Abnormal eyelid morphology	57492	ARID1B	ORPHA:251056
HP:0000492	Abnormal eyelid morphology	57492	ARID1B	OMIM:135900
HP:0000492	Abnormal eyelid morphology	57688	ZSWIM6	OMIM:603671
HP:0000492	Abnormal eyelid morphology	7030	TFE3	OMIM:301066
HP:0000492	Abnormal eyelid morphology	2239	GPC4	ORPHA:373
HP:0000492	Abnormal eyelid morphology	2239	GPC4	OMIM:312870
HP:0000492	Abnormal eyelid morphology	2719	GPC3	ORPHA:373
HP:0000492	Abnormal eyelid morphology	2719	GPC3	OMIM:312870
HP:0000492	Abnormal eyelid morphology	259232	NALCN	OMIM:616266
HP:0000492	Abnormal eyelid morphology	259232	NALCN	ORPHA:2053
HP:0000492	Abnormal eyelid morphology	259232	NALCN	ORPHA:371364
HP:0000492	Abnormal eyelid morphology	2260	FGFR1	OMIM:166250
HP:0000492	Abnormal eyelid morphology	2260	FGFR1	OMIM:101600
HP:0000492	Abnormal eyelid morphology	2260	FGFR1	ORPHA:2117
HP:0000492	Abnormal eyelid morphology	4052	LTBP1	ORPHA:90349
HP:0000492	Abnormal eyelid morphology	4052	LTBP1	OMIM:619451
HP:0000492	Abnormal eyelid morphology	30008	EFEMP2	ORPHA:90349
HP:0000492	Abnormal eyelid morphology	30008	EFEMP2	OMIM:614437
HP:0000492	Abnormal eyelid morphology	10516	FBLN5	ORPHA:90349
HP:0000492	Abnormal eyelid morphology	6885	MAP3K7	ORPHA:1826
HP:0000492	Abnormal eyelid morphology	6885	MAP3K7	OMIM:617137
HP:0000492	Abnormal eyelid morphology	8813	DPM1	ORPHA:79322
HP:0000492	Abnormal eyelid morphology	8813	DPM1	OMIM:608799
HP:0000492	Abnormal eyelid morphology	10262	SF3B4	ORPHA:245
HP:0000492	Abnormal eyelid morphology	10262	SF3B4	OMIM:154400
HP:0000492	Abnormal eyelid morphology	91252	SLC39A13	ORPHA:157965
HP:0000492	Abnormal eyelid morphology	91252	SLC39A13	OMIM:612350
HP:0000492	Abnormal eyelid morphology	6261	RYR1	OMIM:619542
HP:0000492	Abnormal eyelid morphology	9533	POLR1C	OMIM:248390
HP:0000492	Abnormal eyelid morphology	9533	POLR1C	ORPHA:861
HP:0000492	Abnormal eyelid morphology	6654	SOS1	OMIM:610733
HP:0000492	Abnormal eyelid morphology	6654	SOS1	ORPHA:648
HP:0000492	Abnormal eyelid morphology	1801	DPH1	ORPHA:459061
HP:0000492	Abnormal eyelid morphology	1801	DPH1	OMIM:616901
HP:0000492	Abnormal eyelid morphology	389827	MYMK	OMIM:254940
HP:0000492	Abnormal eyelid morphology	389827	MYMK	ORPHA:1358
HP:0000492	Abnormal eyelid morphology	9949	AMMECR1	OMIM:300990
HP:0000492	Abnormal eyelid morphology	9949	AMMECR1	ORPHA:86818
HP:0000492	Abnormal eyelid morphology	2737	GLI3	ORPHA:672
HP:0000492	Abnormal eyelid morphology	2737	GLI3	OMIM:175700
HP:0000492	Abnormal eyelid morphology	8925	HERC1	OMIM:617011
HP:0000492	Abnormal eyelid morphology	8925	HERC1	ORPHA:457359
HP:0000492	Abnormal eyelid morphology	5351	PLOD1	OMIM:225400
HP:0000492	Abnormal eyelid morphology	56896	DPYSL5	OMIM:619435
HP:0000492	Abnormal eyelid morphology	6477	SIAH1	OMIM:619314
HP:0000492	Abnormal eyelid morphology	4598	MVK	ORPHA:29
HP:0000492	Abnormal eyelid morphology	4598	MVK	OMIM:610377
HP:0000492	Abnormal eyelid morphology	54517	PUS7	OMIM:618342
HP:0000492	Abnormal eyelid morphology	10765	KDM5B	OMIM:618109
HP:0000492	Abnormal eyelid morphology	8573	CASK	OMIM:300749
HP:0000492	Abnormal eyelid morphology	23314	SATB2	ORPHA:251028
HP:0000492	Abnormal eyelid morphology	23314	SATB2	ORPHA:251019
HP:0000492	Abnormal eyelid morphology	23314	SATB2	OMIM:612313
HP:0000492	Abnormal eyelid morphology	5396	PRRX1	OMIM:202650
HP:0000492	Abnormal eyelid morphology	6418	SET	OMIM:618106
HP:0000492	Abnormal eyelid morphology	2200	FBN1	ORPHA:284979
HP:0000492	Abnormal eyelid morphology	2200	FBN1	OMIM:616914
HP:0000492	Abnormal eyelid morphology	2200	FBN1	ORPHA:2462
HP:0000492	Abnormal eyelid morphology	2200	FBN1	OMIM:154700
HP:0000492	Abnormal eyelid morphology	27125	AFF4	ORPHA:444077
HP:0000492	Abnormal eyelid morphology	55315	SLC29A3	OMIM:602782
HP:0000492	Abnormal eyelid morphology	7372	UMPS	ORPHA:30
HP:0000492	Abnormal eyelid morphology	91754	NEK9	OMIM:617022
HP:0000492	Abnormal eyelid morphology	650	BMP2	ORPHA:261295
HP:0000492	Abnormal eyelid morphology	650	BMP2	OMIM:617877
HP:0000492	Abnormal eyelid morphology	9871	SEC24D	OMIM:616294
HP:0000492	Abnormal eyelid morphology	9871	SEC24D	ORPHA:2050
HP:0000492	Abnormal eyelid morphology	29998	BICRA	OMIM:619325
HP:0000492	Abnormal eyelid morphology	6651	SON	OMIM:617140
HP:0000492	Abnormal eyelid morphology	6651	SON	ORPHA:500150
HP:0000492	Abnormal eyelid morphology	9342	SNAP29	ORPHA:66631
HP:0000492	Abnormal eyelid morphology	9342	SNAP29	OMIM:609528
HP:0000492	Abnormal eyelid morphology	1289	COL5A1	OMIM:619329
HP:0000492	Abnormal eyelid morphology	3417	IDH1	ORPHA:99646
HP:0000492	Abnormal eyelid morphology	56975	FAM20C	OMIM:259775
HP:0000492	Abnormal eyelid morphology	4763	NF1	OMIM:601321
HP:0000492	Abnormal eyelid morphology	4763	NF1	ORPHA:97685
HP:0000492	Abnormal eyelid morphology	4763	NF1	ORPHA:638
HP:0000492	Abnormal eyelid morphology	83999	KREMEN1	OMIM:617392
HP:0000492	Abnormal eyelid morphology	3039	HBA1	ORPHA:98791
HP:0000492	Abnormal eyelid morphology	3040	HBA2	ORPHA:98791
HP:0000492	Abnormal eyelid morphology	51132	RLIM	OMIM:300978
HP:0000492	Abnormal eyelid morphology	8260	NAA10	OMIM:300855
HP:0000492	Abnormal eyelid morphology	8260	NAA10	ORPHA:276432
HP:0000492	Abnormal eyelid morphology	5831	PYCR1	OMIM:612940
HP:0000492	Abnormal eyelid morphology	201163	FLCN	OMIM:610883
HP:0000492	Abnormal eyelid morphology	29920	PYCR2	ORPHA:481152
HP:0000492	Abnormal eyelid morphology	29920	PYCR2	OMIM:616420
HP:0000492	Abnormal eyelid morphology	92344	GORAB	OMIM:231070
HP:0000492	Abnormal eyelid morphology	1312	COMT	ORPHA:567
HP:0000492	Abnormal eyelid morphology	221037	JMJD1C	ORPHA:567
HP:0000492	Abnormal eyelid morphology	2812	GP1BB	ORPHA:567
HP:0000492	Abnormal eyelid morphology	6239	RREB1	ORPHA:567
HP:0000492	Abnormal eyelid morphology	7290	HIRA	ORPHA:567
HP:0000492	Abnormal eyelid morphology	9632	SEC24C	ORPHA:567
HP:0000492	Abnormal eyelid morphology	7353	UFD1	ORPHA:567
HP:0000492	Abnormal eyelid morphology	421	ARVCF	ORPHA:567
HP:0000492	Abnormal eyelid morphology	7136	TNNI2	OMIM:601680
HP:0000492	Abnormal eyelid morphology	444	ASPH	OMIM:601552
HP:0000492	Abnormal eyelid morphology	7703	PCGF2	OMIM:618371
HP:0000492	Abnormal eyelid morphology	23111	SPART	ORPHA:101000
HP:0000492	Abnormal eyelid morphology	9509	ADAMTS2	OMIM:225410
HP:0000492	Abnormal eyelid morphology	10524	KAT5	OMIM:619103
HP:0000492	Abnormal eyelid morphology	372	ARCN1	OMIM:617164
HP:0000492	Abnormal eyelid morphology	633	BGN	OMIM:300989
HP:0000492	Abnormal eyelid morphology	22808	MRAS	OMIM:618499
HP:0000492	Abnormal eyelid morphology	22808	MRAS	ORPHA:648
HP:0000492	Abnormal eyelid morphology	2475	MTOR	ORPHA:457485
HP:0000492	Abnormal eyelid morphology	2475	MTOR	OMIM:616638
HP:0000492	Abnormal eyelid morphology	6304	SATB1	OMIM:619229
HP:0000492	Abnormal eyelid morphology	9343	EFTUD2	OMIM:610536
HP:0000492	Abnormal eyelid morphology	23594	ORC6	OMIM:613803
HP:0000492	Abnormal eyelid morphology	5913	RAPSN	OMIM:618388
HP:0000492	Abnormal eyelid morphology	2290	FOXG1	ORPHA:261144
HP:0000492	Abnormal eyelid morphology	285489	DOK7	OMIM:618389
HP:0000492	Abnormal eyelid morphology	134218	DNAJC21	OMIM:617052
HP:0000492	Abnormal eyelid morphology	5977	DPF2	OMIM:618027
HP:0000492	Abnormal eyelid morphology	79005	SCNM1	OMIM:620107
HP:0000492	Abnormal eyelid morphology	285590	SH3PXD2B	ORPHA:137834
HP:0000492	Abnormal eyelid morphology	285590	SH3PXD2B	OMIM:249420
HP:0000492	Abnormal eyelid morphology	10283	CWC27	OMIM:250410
HP:0000492	Abnormal eyelid morphology	10283	CWC27	ORPHA:166035
HP:0000492	Abnormal eyelid morphology	207	AKT1	ORPHA:744
HP:0000492	Abnormal eyelid morphology	207	AKT1	OMIM:176920
HP:0000492	Abnormal eyelid morphology	11198	SUPT16H	OMIM:619480
HP:0000492	Abnormal eyelid morphology	84172	POLR1B	ORPHA:861
HP:0000492	Abnormal eyelid morphology	84172	POLR1B	OMIM:618939
HP:0000492	Abnormal eyelid morphology	51082	POLR1D	ORPHA:861
HP:0000492	Abnormal eyelid morphology	51082	POLR1D	OMIM:613717
HP:0000492	Abnormal eyelid morphology	7204	TRIO	OMIM:617061
HP:0000492	Abnormal eyelid morphology	7204	TRIO	OMIM:618825
HP:0000492	Abnormal eyelid morphology	5290	PIK3CA	OMIM:602501
HP:0000492	Abnormal eyelid morphology	2571	GAD1	OMIM:619124
HP:0000492	Abnormal eyelid morphology	23067	SETD1B	OMIM:619000
HP:0000492	Abnormal eyelid morphology	23112	TNRC6B	OMIM:619243
HP:0000492	Abnormal eyelid morphology	8450	CUL4B	ORPHA:85293
HP:0000492	Abnormal eyelid morphology	22995	CEP152	OMIM:613823
HP:0000492	Abnormal eyelid morphology	22995	CEP152	ORPHA:808
HP:0000492	Abnormal eyelid morphology	93587	TRMT10A	ORPHA:391408
HP:0000492	Abnormal eyelid morphology	84919	PPP1R15B	ORPHA:391408
HP:0000492	Abnormal eyelid morphology	84919	PPP1R15B	OMIM:616817
HP:0000492	Abnormal eyelid morphology	80267	EDEM3	OMIM:619493
HP:0000492	Abnormal eyelid morphology	57020	VPS35L	OMIM:619135
HP:0000492	Abnormal eyelid morphology	4781	NFIB	OMIM:618286
HP:0000492	Abnormal eyelid morphology	2733	GLE1	OMIM:611890
HP:0000492	Abnormal eyelid morphology	8481	OFD1	OMIM:300804
HP:0000492	Abnormal eyelid morphology	8481	OFD1	OMIM:311200
HP:0000492	Abnormal eyelid morphology	8481	OFD1	ORPHA:2750
HP:0000492	Abnormal eyelid morphology	22800	RRAS2	ORPHA:648
HP:0000492	Abnormal eyelid morphology	867	CBL	ORPHA:648
HP:0000492	Abnormal eyelid morphology	867	CBL	OMIM:613563
HP:0000492	Abnormal eyelid morphology	6237	RRAS	ORPHA:648
HP:0000492	Abnormal eyelid morphology	5894	RAF1	ORPHA:648
HP:0000492	Abnormal eyelid morphology	5894	RAF1	OMIM:611554
HP:0000492	Abnormal eyelid morphology	5894	RAF1	OMIM:611553
HP:0000492	Abnormal eyelid morphology	4893	NRAS	ORPHA:648
HP:0000492	Abnormal eyelid morphology	4893	NRAS	OMIM:613224
HP:0000492	Abnormal eyelid morphology	6655	SOS2	ORPHA:648
HP:0000492	Abnormal eyelid morphology	6655	SOS2	OMIM:616559
HP:0000492	Abnormal eyelid morphology	5781	PTPN11	ORPHA:648
HP:0000492	Abnormal eyelid morphology	5781	PTPN11	OMIM:163950
HP:0000492	Abnormal eyelid morphology	5922	RASA2	ORPHA:648
HP:0000492	Abnormal eyelid morphology	84081	NSRP1	OMIM:620001
HP:0000492	Abnormal eyelid morphology	5727	PTCH1	ORPHA:77301
HP:0000492	Abnormal eyelid morphology	9897	WASHC5	ORPHA:7
HP:0000492	Abnormal eyelid morphology	9897	WASHC5	OMIM:220210
HP:0000492	Abnormal eyelid morphology	28952	CCDC22	ORPHA:7
HP:0000492	Abnormal eyelid morphology	1795	DOCK3	OMIM:618292
HP:0000492	Abnormal eyelid morphology	51626	DYNC2LI1	OMIM:617088
HP:0000492	Abnormal eyelid morphology	80704	SLC19A3	ORPHA:263410
HP:0000492	Abnormal eyelid morphology	90121	TSR2	OMIM:300946
HP:0000492	Abnormal eyelid morphology	2261	FGFR3	OMIM:602849
HP:0000492	Abnormal eyelid morphology	51109	RDH11	ORPHA:436245
HP:0000492	Abnormal eyelid morphology	7042	TGFB2	OMIM:614816
HP:0000492	Abnormal eyelid morphology	8243	SMC1A	OMIM:300590
HP:0000492	Abnormal eyelid morphology	8243	SMC1A	OMIM:301044
HP:0000492	Abnormal eyelid morphology	7337	UBE3A	ORPHA:238446
HP:0000492	Abnormal eyelid morphology	54084	TSPEAR	OMIM:618180
HP:0000492	Abnormal eyelid morphology	324	APC	ORPHA:261584
HP:0000492	Abnormal eyelid morphology	324	APC	ORPHA:3258
HP:0000492	Abnormal eyelid morphology	6309	SC5D	ORPHA:46059
HP:0000492	Abnormal eyelid morphology	6309	SC5D	OMIM:607330
HP:0000492	Abnormal eyelid morphology	1183	CLCN4	OMIM:300114
HP:0000492	Abnormal eyelid morphology	5034	P4HB	ORPHA:2050
HP:0000492	Abnormal eyelid morphology	23241	PACS2	OMIM:618067
HP:0000492	Abnormal eyelid morphology	26128	KIFBP	OMIM:609460
HP:0000492	Abnormal eyelid morphology	161742	SPRED1	OMIM:611431
HP:0000492	Abnormal eyelid morphology	84282	RNF135	ORPHA:137634
HP:0000492	Abnormal eyelid morphology	8854	ALDH1A2	OMIM:620025
HP:0000492	Abnormal eyelid morphology	9839	ZEB2	OMIM:235730
HP:0000492	Abnormal eyelid morphology	1299	COL9A3	OMIM:620022
HP:0000492	Abnormal eyelid morphology	64324	NSD1	ORPHA:821
HP:0000492	Abnormal eyelid morphology	64324	NSD1	OMIM:117550
HP:0000492	Abnormal eyelid morphology	64324	NSD1	ORPHA:3447
HP:0000492	Abnormal eyelid morphology	10297	APC2	ORPHA:821
HP:0000492	Abnormal eyelid morphology	4784	NFIX	ORPHA:447980
HP:0000492	Abnormal eyelid morphology	4784	NFIX	ORPHA:420179
HP:0000492	Abnormal eyelid morphology	4784	NFIX	OMIM:614753
HP:0000492	Abnormal eyelid morphology	374654	KIF7	OMIM:200990
HP:0000492	Abnormal eyelid morphology	1717	DHCR7	ORPHA:818
HP:0000492	Abnormal eyelid morphology	23431	AP4E1	OMIM:613744
HP:0000492	Abnormal eyelid morphology	25782	RAB3GAP2	OMIM:212720
HP:0000492	Abnormal eyelid morphology	5818	NECTIN1	ORPHA:3253
HP:0000492	Abnormal eyelid morphology	150468	CKAP2L	ORPHA:3255
HP:0000492	Abnormal eyelid morphology	271	AMPD2	OMIM:615809
HP:0000492	Abnormal eyelid morphology	9382	COG1	OMIM:611209
HP:0000492	Abnormal eyelid morphology	9382	COG1	ORPHA:263508
HP:0000492	Abnormal eyelid morphology	4038	LRP4	ORPHA:3258
HP:0000492	Abnormal eyelid morphology	4038	LRP4	OMIM:212780
HP:0000492	Abnormal eyelid morphology	6197	RPS6KA3	OMIM:303600
HP:0000492	Abnormal eyelid morphology	6197	RPS6KA3	ORPHA:276630
HP:0000492	Abnormal eyelid morphology	6197	RPS6KA3	ORPHA:192
HP:0000492	Abnormal eyelid morphology	1146	CHRNG	OMIM:265000
HP:0000492	Abnormal eyelid morphology	1146	CHRNG	ORPHA:2990
HP:0000492	Abnormal eyelid morphology	9739	SETD1A	OMIM:619056
HP:0000492	Abnormal eyelid morphology	80204	FBXO11	OMIM:618089
HP:0000492	Abnormal eyelid morphology	9184	BUB3	ORPHA:1052
HP:0000492	Abnormal eyelid morphology	9319	TRIP13	ORPHA:1052
HP:0000492	Abnormal eyelid morphology	701	BUB1B	ORPHA:1052
HP:0000492	Abnormal eyelid morphology	55148	UBR7	OMIM:619189
HP:0000492	Abnormal eyelid morphology	10682	EBP	ORPHA:35173
HP:0000492	Abnormal eyelid morphology	10682	EBP	OMIM:302960
HP:0000492	Abnormal eyelid morphology	55636	CHD7	OMIM:214800
HP:0000492	Abnormal eyelid morphology	4036	LRP2	ORPHA:2143
HP:0000492	Abnormal eyelid morphology	4036	LRP2	OMIM:222448
HP:0000492	Abnormal eyelid morphology	1301	COL11A1	ORPHA:2021
HP:0000492	Abnormal eyelid morphology	1302	COL11A2	ORPHA:2021
HP:0000492	Abnormal eyelid morphology	657	BMPR1A	ORPHA:79076
HP:0000492	Abnormal eyelid morphology	526	ATP6V1B2	ORPHA:3473
HP:0000492	Abnormal eyelid morphology	3756	KCNH1	ORPHA:3473
HP:0000492	Abnormal eyelid morphology	3782	KCNN3	ORPHA:3473
HP:0000492	Abnormal eyelid morphology	3265	HRAS	OMIM:218040
HP:0000492	Abnormal eyelid morphology	6234	RPS28	OMIM:606164
HP:0000492	Abnormal eyelid morphology	4953	ODC1	OMIM:619075
HP:0000492	Abnormal eyelid morphology	4953	ODC1	ORPHA:544488
HP:0000492	Abnormal eyelid morphology	197257	LDHD	OMIM:245450
HP:0000492	Abnormal eyelid morphology	6660	SOX5	OMIM:616803
HP:0000492	Abnormal eyelid morphology	285175	UNC80	OMIM:616801
HP:0000492	Abnormal eyelid morphology	285175	UNC80	ORPHA:371364
HP:0000492	Abnormal eyelid morphology	11128	POLR3A	OMIM:264090
HP:0000492	Abnormal eyelid morphology	55719	SLF2	OMIM:620184
HP:0000492	Abnormal eyelid morphology	55027	HEATR3	OMIM:620072
HP:0000492	Abnormal eyelid morphology	283209	PGM2L1	OMIM:620191
HP:0000492	Abnormal eyelid morphology	78989	COLEC11	OMIM:265050
HP:0000492	Abnormal eyelid morphology	78989	COLEC11	ORPHA:293843
HP:0000492	Abnormal eyelid morphology	4094	MAF	ORPHA:1272
HP:0000492	Abnormal eyelid morphology	4094	MAF	OMIM:601088
HP:0000492	Abnormal eyelid morphology	5594	MAPK1	OMIM:619087
HP:0000492	Abnormal eyelid morphology	23261	CAMTA1	OMIM:614756
HP:0000492	Abnormal eyelid morphology	54499	TMCO1	ORPHA:1394
HP:0000492	Abnormal eyelid morphology	10430	TMEM147	OMIM:620075
HP:0000492	Abnormal eyelid morphology	3187	HNRNPH1	OMIM:620083
HP:0000492	Abnormal eyelid morphology	9652	SKIC3	OMIM:222470
HP:0000492	Abnormal eyelid morphology	8504	PEX3	OMIM:614882
HP:0000492	Abnormal eyelid morphology	2146	EZH2	OMIM:277590
HP:0000492	Abnormal eyelid morphology	2146	EZH2	ORPHA:3447
HP:0000492	Abnormal eyelid morphology	545	ATR	ORPHA:808
HP:0000492	Abnormal eyelid morphology	545	ATR	OMIM:210600
HP:0000492	Abnormal eyelid morphology	1062	CENPE	ORPHA:808
HP:0000492	Abnormal eyelid morphology	5116	PCNT	ORPHA:808
HP:0000492	Abnormal eyelid morphology	5116	PCNT	ORPHA:2637
HP:0000492	Abnormal eyelid morphology	5932	RBBP8	ORPHA:808
HP:0000492	Abnormal eyelid morphology	79902	NUP85	ORPHA:808
HP:0000492	Abnormal eyelid morphology	84126	ATRIP	ORPHA:808
HP:0000492	Abnormal eyelid morphology	55835	CENPJ	ORPHA:808
HP:0000492	Abnormal eyelid morphology	10293	TRAIP	ORPHA:808
HP:0000492	Abnormal eyelid morphology	10733	PLK4	ORPHA:808
HP:0000492	Abnormal eyelid morphology	84317	CCDC115	OMIM:616828
HP:0000492	Abnormal eyelid morphology	79791	FBXO31	OMIM:615979
HP:0000492	Abnormal eyelid morphology	157570	ESCO2	OMIM:268300
HP:0000492	Abnormal eyelid morphology	5631	PRPS1	OMIM:300661
HP:0000492	Abnormal eyelid morphology	22907	DHX30	OMIM:617804
HP:0000492	Abnormal eyelid morphology	51053	GMNN	OMIM:616835
HP:0000492	Abnormal eyelid morphology	2245	FGD1	ORPHA:915
HP:0000492	Abnormal eyelid morphology	2245	FGD1	OMIM:305400
HP:0000492	Abnormal eyelid morphology	6497	SKI	ORPHA:2462
HP:0000492	Abnormal eyelid morphology	6497	SKI	OMIM:182212
HP:0000492	Abnormal eyelid morphology	196528	ARID2	OMIM:617808
HP:0000492	Abnormal eyelid morphology	3720	JARID2	OMIM:620098
HP:0000492	Abnormal eyelid morphology	5648	MASP1	OMIM:257920
HP:0000492	Abnormal eyelid morphology	5648	MASP1	ORPHA:293843
HP:0000492	Abnormal eyelid morphology	11133	KPTN	OMIM:615637
HP:0000492	Abnormal eyelid morphology	11133	KPTN	ORPHA:397612
HP:0000492	Abnormal eyelid morphology	65062	TMEM237	OMIM:614424
HP:0000492	Abnormal eyelid morphology	23028	KDM1A	OMIM:616728
HP:0000492	Abnormal eyelid morphology	23028	KDM1A	ORPHA:477993
HP:0000492	Abnormal eyelid morphology	55593	OTUD5	OMIM:301056
HP:0000492	Abnormal eyelid morphology	4854	NOTCH3	OMIM:130720
HP:0000492	Abnormal eyelid morphology	4854	NOTCH3	ORPHA:2789
HP:0000492	Abnormal eyelid morphology	473	RERE	OMIM:616975
HP:0000492	Abnormal eyelid morphology	83479	DDX59	OMIM:174300
HP:0000492	Abnormal eyelid morphology	998	CDC42	OMIM:616737
HP:0000492	Abnormal eyelid morphology	998	CDC42	ORPHA:487796
HP:0000492	Abnormal eyelid morphology	101929726	MYMX	ORPHA:1358
HP:0000492	Abnormal eyelid morphology	84679	SLC9A7	OMIM:301024
HP:0000492	Abnormal eyelid morphology	90161	HS6ST2	OMIM:301025
HP:0000492	Abnormal eyelid morphology	63035	BCORL1	OMIM:301029
HP:0000492	Abnormal eyelid morphology	1778	DYNC1H1	OMIM:614563
HP:0000492	Abnormal eyelid morphology	1000	CDH2	OMIM:618929
HP:0000492	Abnormal eyelid morphology	2248	FGF3	ORPHA:90024
HP:0000492	Abnormal eyelid morphology	10943	MSL3	OMIM:301032
HP:0000492	Abnormal eyelid morphology	5718	PSMD12	ORPHA:529962
HP:0000492	Abnormal eyelid morphology	55644	OSGEP	OMIM:617729
HP:0000492	Abnormal eyelid morphology	2313	FLI1	ORPHA:2308
HP:0000492	Abnormal eyelid morphology	538	ATP7A	ORPHA:198
HP:0000492	Abnormal eyelid morphology	6628	SNRPB	OMIM:117650
HP:0000492	Abnormal eyelid morphology	8929	PHOX2B	OMIM:209880
HP:0000492	Abnormal eyelid morphology	91461	PKDCC	OMIM:618821
HP:0000492	Abnormal eyelid morphology	4329	ALDH6A1	OMIM:614105
HP:0000492	Abnormal eyelid morphology	80152	CENPT	OMIM:618702
HP:0000492	Abnormal eyelid morphology	26047	CNTNAP2	ORPHA:163681
HP:0000492	Abnormal eyelid morphology	23630	KCNE5	ORPHA:86818
HP:0000492	Abnormal eyelid morphology	2182	ACSL4	ORPHA:86818
HP:0000492	Abnormal eyelid morphology	55617	TASP1	OMIM:618950
HP:0000492	Abnormal eyelid morphology	1806	DPYD	ORPHA:1675
HP:0000492	Abnormal eyelid morphology	5500	PPP1CB	OMIM:617506
HP:0000492	Abnormal eyelid morphology	113246	C12orf57	OMIM:218340
HP:0000492	Abnormal eyelid morphology	2273	FHL1	OMIM:300280
HP:0000492	Abnormal eyelid morphology	4841	NONO	ORPHA:466791
HP:0000492	Abnormal eyelid morphology	529	ATP6V1E1	ORPHA:357074
HP:0000492	Abnormal eyelid morphology	8777	MPDZ	OMIM:615219
HP:0000492	Abnormal eyelid morphology	10584	COLEC10	ORPHA:293843
HP:0000492	Abnormal eyelid morphology	3778	KCNMA1	OMIM:618729
HP:0000492	Abnormal eyelid morphology	6223	RPS19	OMIM:105650
HP:0000492	Abnormal eyelid morphology	9469	CHST3	OMIM:245600
HP:0000492	Abnormal eyelid morphology	26229	B3GAT3	OMIM:245600
HP:0000492	Abnormal eyelid morphology	5307	PITX1	OMIM:119800
HP:0000492	Abnormal eyelid morphology	18	ABAT	OMIM:613163
HP:0000492	Abnormal eyelid morphology	3832	KIF11	OMIM:152950
HP:0000492	Abnormal eyelid morphology	7545	ZIC1	OMIM:618736
HP:0000492	Abnormal eyelid morphology	4281	MID1	ORPHA:2745
HP:0000492	Abnormal eyelid morphology	4858	NOVA2	OMIM:618859
HP:0000492	Abnormal eyelid morphology	9181	ARHGEF2	OMIM:617523
HP:0000492	Abnormal eyelid morphology	4654	MYOD1	OMIM:618975
HP:0000492	Abnormal eyelid morphology	55753	OGDHL	OMIM:619701
HP:0000492	Abnormal eyelid morphology	58499	ZNF462	OMIM:618619
HP:0000492	Abnormal eyelid morphology	348	APOE	ORPHA:158029
HP:0000492	Abnormal eyelid morphology	6868	ADAM17	OMIM:614328
HP:0000492	Abnormal eyelid morphology	6868	ADAM17	ORPHA:294023
HP:0000492	Abnormal eyelid morphology	7454	WAS	ORPHA:906
HP:0000492	Abnormal eyelid morphology	7456	WIPF1	ORPHA:906
HP:0000492	Abnormal eyelid morphology	10095	ARPC1B	OMIM:617718
HP:0000492	Abnormal eyelid morphology	10758	TRAF3IP2	OMIM:615527
HP:0000492	Abnormal eyelid morphology	6307	MSMO1	OMIM:616834
HP:0000492	Abnormal eyelid morphology	147409	DSG4	ORPHA:573
HP:0000492	Abnormal eyelid morphology	3892	KRT86	ORPHA:573
HP:0000492	Abnormal eyelid morphology	3889	KRT83	ORPHA:573
HP:0000492	Abnormal eyelid morphology	3887	KRT81	ORPHA:573
HP:0000492	Abnormal eyelid morphology	1041	CDSN	ORPHA:90368
HP:0000492	Abnormal eyelid morphology	121391	KRT74	ORPHA:90368
HP:0000492	Abnormal eyelid morphology	121391	KRT74	OMIM:194300
HP:0000492	Abnormal eyelid morphology	121391	KRT74	OMIM:613981
HP:0000492	Abnormal eyelid morphology	85378	TUBGCP6	ORPHA:2518
HP:0000492	Abnormal eyelid morphology	27229	TUBGCP4	ORPHA:2518
HP:0000492	Abnormal eyelid morphology	124583	CANT1	ORPHA:1425
HP:0000492	Abnormal eyelid morphology	80169	CTC1	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	26277	TINF2	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	55651	NHP2	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	79650	USB1	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	55135	WRAP53	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	51750	RTEL1	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	4869	NPM1	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	7012	TERC	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	55505	NOP10	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	5073	PARN	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	7015	TERT	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	1736	DKC1	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	7298	TYMS	ORPHA:1775
HP:0000492	Abnormal eyelid morphology	355	FAS	ORPHA:3437
HP:0000492	Abnormal eyelid morphology	26191	PTPN22	ORPHA:3437
HP:0000492	Abnormal eyelid morphology	5333	PLCD1	ORPHA:2387
HP:0000492	Abnormal eyelid morphology	128	ADH5	OMIM:619151
HP:0000492	Abnormal eyelid morphology	894	CCND2	ORPHA:83473
HP:0000492	Abnormal eyelid morphology	10000	AKT3	ORPHA:83473
HP:0000492	Abnormal eyelid morphology	56172	ANKH	ORPHA:1522
HP:0000492	Abnormal eyelid morphology	23135	KDM6B	OMIM:618505
HP:0000492	Abnormal eyelid morphology	3008	H1-4	OMIM:617537
HP:0000492	Abnormal eyelid morphology	1836	SLC26A2	ORPHA:56304
HP:0000492	Abnormal eyelid morphology	2317	FLNB	ORPHA:1190
HP:0000492	Abnormal eyelid morphology	23259	DDHD2	OMIM:615033
HP:0000492	Abnormal eyelid morphology	9091	PIGQ	OMIM:618548
HP:0000492	Abnormal eyelid morphology	79796	ALG9	ORPHA:79328
HP:0000492	Abnormal eyelid morphology	79796	ALG9	OMIM:263210
HP:0000492	Abnormal eyelid morphology	4286	MITF	OMIM:193510
HP:0000492	Abnormal eyelid morphology	4286	MITF	ORPHA:897
HP:0000492	Abnormal eyelid morphology	4286	MITF	ORPHA:895
HP:0000492	Abnormal eyelid morphology	51098	IFT52	OMIM:617102
HP:0000492	Abnormal eyelid morphology	92002	CCNQ	ORPHA:140952
HP:0000492	Abnormal eyelid morphology	92002	CCNQ	OMIM:300707
HP:0000492	Abnormal eyelid morphology	8643	PTCH2	ORPHA:377
HP:0000492	Abnormal eyelid morphology	51684	SUFU	ORPHA:377
HP:0000492	Abnormal eyelid morphology	5295	PIK3R1	OMIM:269880
HP:0000492	Abnormal eyelid morphology	5295	PIK3R1	ORPHA:3163
HP:0000492	Abnormal eyelid morphology	54941	RNF125	OMIM:616260
HP:0000492	Abnormal eyelid morphology	112752	IFT43	OMIM:614099
HP:0000492	Abnormal eyelid morphology	51013	EXOSC1	OMIM:619304
HP:0000492	Abnormal eyelid morphology	5308	PITX2	ORPHA:782
HP:0000492	Abnormal eyelid morphology	2296	FOXC1	ORPHA:782
HP:0000492	Abnormal eyelid morphology	128869	PIGU	OMIM:618590
HP:0000492	Abnormal eyelid morphology	57520	HECW2	OMIM:617268
HP:0000492	Abnormal eyelid morphology	1908	EDN3	ORPHA:897
HP:0000492	Abnormal eyelid morphology	1910	EDNRB	ORPHA:897
HP:0000492	Abnormal eyelid morphology	1910	EDNRB	ORPHA:895
HP:0000492	Abnormal eyelid morphology	6663	SOX10	ORPHA:897
HP:0000492	Abnormal eyelid morphology	6663	SOX10	ORPHA:163746
HP:0000492	Abnormal eyelid morphology	6663	SOX10	ORPHA:895
HP:0000492	Abnormal eyelid morphology	55764	IFT122	OMIM:218330
HP:0000492	Abnormal eyelid morphology	5745	PTH1R	ORPHA:50945
HP:0000492	Abnormal eyelid morphology	9419	CRIPT	OMIM:615789
HP:0000492	Abnormal eyelid morphology	11285	B4GALT7	ORPHA:75496
HP:0000492	Abnormal eyelid morphology	80781	COL18A1	OMIM:267750
HP:0000492	Abnormal eyelid morphology	51715	RAB23	OMIM:201000
HP:0000492	Abnormal eyelid morphology	114928	GPRASP2	OMIM:301018
HP:0000492	Abnormal eyelid morphology	202018	TAPT1	OMIM:616897
HP:0000492	Abnormal eyelid morphology	2890	GRIA1	OMIM:619927
HP:0000492	Abnormal eyelid morphology	7299	TYR	ORPHA:895
HP:0000492	Abnormal eyelid morphology	6591	SNAI2	ORPHA:895
HP:0000492	Abnormal eyelid morphology	4254	KITLG	ORPHA:895
HP:0000492	Abnormal eyelid morphology	4254	KITLG	OMIM:619947
HP:0000492	Abnormal eyelid morphology	403	ARL3	OMIM:618161
HP:0000492	Abnormal eyelid morphology	170692	ADAMTS18	OMIM:615458
HP:0000492	Abnormal eyelid morphology	4750	NEK1	ORPHA:2751
HP:0000492	Abnormal eyelid morphology	2108	ETFA	OMIM:231680
HP:0000492	Abnormal eyelid morphology	2109	ETFB	OMIM:231680
HP:0000492	Abnormal eyelid morphology	2110	ETFDH	OMIM:231680
HP:0000492	Abnormal eyelid morphology	9853	RUSC2	OMIM:617773
HP:0000492	Abnormal eyelid morphology	6228	RPS23	OMIM:617412
HP:0000492	Abnormal eyelid morphology	4897	NRCAM	OMIM:619833
HP:0000492	Abnormal eyelid morphology	10586	MAB21L2	OMIM:615877
HP:0000492	Abnormal eyelid morphology	10274	STAG1	ORPHA:502434
HP:0000492	Abnormal eyelid morphology	55869	HDAC8	OMIM:300882
HP:0000492	Abnormal eyelid morphology	55869	HDAC8	ORPHA:199
HP:0000492	Abnormal eyelid morphology	10847	SRCAP	OMIM:136140
HP:0000492	Abnormal eyelid morphology	1436	CSF1R	OMIM:618476
HP:0000492	Abnormal eyelid morphology	6536	SLC6A9	OMIM:617301
HP:0000492	Abnormal eyelid morphology	51506	UFC1	OMIM:618076
HP:0000492	Abnormal eyelid morphology	9442	MED27	OMIM:619286
HP:0000492	Abnormal eyelid morphology	65082	VPS33A	OMIM:617303
HP:0000492	Abnormal eyelid morphology	65082	VPS33A	ORPHA:505248
HP:0000492	Abnormal eyelid morphology	4081	MAB21L1	OMIM:618479
HP:0000492	Abnormal eyelid morphology	2250	FGF5	OMIM:190330
HP:0000492	Abnormal eyelid morphology	10908	PNPLA6	OMIM:275400
HP:0000492	Abnormal eyelid morphology	3764	KCNJ8	ORPHA:1517
HP:0000492	Abnormal eyelid morphology	10060	ABCC9	ORPHA:1517
HP:0000492	Abnormal eyelid morphology	10060	ABCC9	OMIM:239850
HP:0000492	Abnormal eyelid morphology	9126	SMC3	OMIM:610759
HP:0000492	Abnormal eyelid morphology	9126	SMC3	ORPHA:199
HP:0000492	Abnormal eyelid morphology	55777	MBD5	OMIM:156200
HP:0000492	Abnormal eyelid morphology	23221	RHOBTB2	OMIM:618004
HP:0000492	Abnormal eyelid morphology	1956	EGFR	OMIM:616069
HP:0000492	Abnormal eyelid morphology	6601	SMARCC2	OMIM:618362
HP:0000492	Abnormal eyelid morphology	5119	CHMP1A	OMIM:614961
HP:0000492	Abnormal eyelid morphology	55603	TENT5A	OMIM:617952
HP:0000492	Abnormal eyelid morphology	8289	ARID1A	OMIM:614607
HP:0000492	Abnormal eyelid morphology	4054	LTBP3	ORPHA:969
HP:0000492	Abnormal eyelid morphology	6598	SMARCB1	OMIM:614608
HP:0000492	Abnormal eyelid morphology	6597	SMARCA4	OMIM:614609
HP:0000492	Abnormal eyelid morphology	9377	COX5A	OMIM:619064
HP:0000492	Abnormal eyelid morphology	6045	RNF2	OMIM:619460
HP:0000492	Abnormal eyelid morphology	23258	DENND5A	OMIM:617281
HP:0000492	Abnormal eyelid morphology	9496	TBX4	ORPHA:261279
HP:0000492	Abnormal eyelid morphology	22872	SEC31A	OMIM:618651
HP:0000492	Abnormal eyelid morphology	283987	HID1	OMIM:619983
HP:0000492	Abnormal eyelid morphology	23476	BRD4	ORPHA:199
HP:0000492	Abnormal eyelid morphology	25836	NIPBL	ORPHA:199
HP:0000492	Abnormal eyelid morphology	25836	NIPBL	OMIM:122470
HP:0000492	Abnormal eyelid morphology	5885	RAD21	ORPHA:199
HP:0000492	Abnormal eyelid morphology	50801	KCNK4	OMIM:618381
HP:0000492	Abnormal eyelid morphology	10664	CTCF	ORPHA:363611
HP:0000492	Abnormal eyelid morphology	10664	CTCF	OMIM:615502
HP:0000492	Abnormal eyelid morphology	57003	CCDC47	OMIM:618268
HP:0000492	Abnormal eyelid morphology	9150	CTDP1	ORPHA:48431
HP:0000492	Abnormal eyelid morphology	149371	EXOC8	OMIM:619076
HP:0000492	Abnormal eyelid morphology	92609	TIMM50	OMIM:617698
HP:0000492	Abnormal eyelid morphology	85440	DOCK7	ORPHA:411986
HP:0000492	Abnormal eyelid morphology	85440	DOCK7	OMIM:615859
HP:0000492	Abnormal eyelid morphology	374879	ZNF699	OMIM:619488
HP:0000492	Abnormal eyelid morphology	51305	KCNK9	OMIM:612292
HP:0000492	Abnormal eyelid morphology	6605	SMARCE1	OMIM:616938
HP:0000492	Abnormal eyelid morphology	5495	PPM1B	ORPHA:163693
HP:0000492	Abnormal eyelid morphology	6519	SLC3A1	ORPHA:163693
HP:0000492	Abnormal eyelid morphology	9581	PREPL	ORPHA:163693
HP:0000492	Abnormal eyelid morphology	79823	CAMKMT	ORPHA:163693
HP:0000492	Abnormal eyelid morphology	55252	ASXL2	OMIM:617190
HP:0000492	Abnormal eyelid morphology	10463	SLC30A9	OMIM:617595
HP:0000492	Abnormal eyelid morphology	738	VPS51	OMIM:618606
HP:0000492	Abnormal eyelid morphology	4848	CNOT2	OMIM:618608
HP:0000492	Abnormal eyelid morphology	84842	HPDL	OMIM:619026
HP:0000492	Abnormal eyelid morphology	5881	RAC3	OMIM:618577
HP:0000492	Abnormal eyelid morphology	6878	TAF6	OMIM:617126
HP:0000492	Abnormal eyelid morphology	7407	VARS1	OMIM:617802
HP:0000492	Abnormal eyelid morphology	10736	SIX2	ORPHA:488437
HP:0000492	Abnormal eyelid morphology	5317	PKP1	OMIM:604536
HP:0000492	Abnormal eyelid morphology	1896	EDA	OMIM:305100
HP:0000492	Abnormal eyelid morphology	1832	DSP	ORPHA:158687
HP:0000492	Abnormal eyelid morphology	3728	JUP	ORPHA:158687
HP:0000492	Abnormal eyelid morphology	4035	LRP1	OMIM:604093
HP:0000492	Abnormal eyelid morphology	128178	EDARADD	OMIM:614941
HP:0000492	Abnormal eyelid morphology	64682	ANAPC1	OMIM:618625
HP:0000492	Abnormal eyelid morphology	3891	KRT85	OMIM:602032
HP:0000492	Abnormal eyelid morphology	55806	HR	ORPHA:701
HP:0000492	Abnormal eyelid morphology	55806	HR	OMIM:203655
HP:0000492	Abnormal eyelid morphology	2706	GJB2	OMIM:602540
HP:0000492	Abnormal eyelid morphology	3229	HOXC13	OMIM:614931
HP:0000492	Abnormal eyelid morphology	10651	MTX2	ORPHA:90153
HP:0000492	Abnormal eyelid morphology	27316	RBMX	OMIM:300238
HP:0000492	Abnormal eyelid morphology	199857	ALG14	OMIM:619036
HP:0000492	Abnormal eyelid morphology	64220	STRA6	OMIM:601186
HP:0000492	Abnormal eyelid morphology	613	BCR	ORPHA:261330
HP:0000492	Abnormal eyelid morphology	1399	CRKL	ORPHA:261330
HP:0000492	Abnormal eyelid morphology	2074	ERCC6	OMIM:214150
HP:0000492	Abnormal eyelid morphology	54888	NSUN2	ORPHA:235
HP:0000492	Abnormal eyelid morphology	54888	NSUN2	OMIM:611091
HP:0000492	Abnormal eyelid morphology	6608	SMO	OMIM:601707
HP:0000492	Abnormal eyelid morphology	6804	STX1A	ORPHA:904
HP:0000492	Abnormal eyelid morphology	7461	CLIP2	ORPHA:904
HP:0000492	Abnormal eyelid morphology	84277	DNAJC30	ORPHA:904
HP:0000492	Abnormal eyelid morphology	8468	FKBP6	ORPHA:904
HP:0000492	Abnormal eyelid morphology	5982	RFC2	ORPHA:904
HP:0000492	Abnormal eyelid morphology	2969	GTF2I	ORPHA:904
HP:0000492	Abnormal eyelid morphology	3984	LIMK1	ORPHA:904
HP:0000492	Abnormal eyelid morphology	9569	GTF2IRD1	ORPHA:904
HP:0000492	Abnormal eyelid morphology	155382	VPS37D	ORPHA:904
HP:0000492	Abnormal eyelid morphology	155368	METTL27	ORPHA:904
HP:0000492	Abnormal eyelid morphology	114049	BUD23	ORPHA:904
HP:0000492	Abnormal eyelid morphology	7458	EIF4H	ORPHA:904
HP:0000492	Abnormal eyelid morphology	84163	GTF2IRD2	ORPHA:904
HP:0000492	Abnormal eyelid morphology	9275	BCL7B	ORPHA:904
HP:0000492	Abnormal eyelid morphology	26608	TBL2	ORPHA:904
HP:0000492	Abnormal eyelid morphology	653361	NCF1	ORPHA:904
HP:0000492	Abnormal eyelid morphology	135886	TMEM270	ORPHA:904
HP:0000492	Abnormal eyelid morphology	51085	MLXIPL	ORPHA:904
HP:0000492	Abnormal eyelid morphology	51085	MLXIPL	OMIM:194050
HP:0000492	Abnormal eyelid morphology	9031	BAZ1B	ORPHA:904
HP:0000492	Abnormal eyelid morphology	2006	ELN	ORPHA:904
HP:0000492	Abnormal eyelid morphology	2006	ELN	OMIM:194050
HP:0000492	Abnormal eyelid morphology	9993	DGCR2	OMIM:192430
HP:0000492	Abnormal eyelid morphology	8220	ESS2	OMIM:192430
HP:0000492	Abnormal eyelid morphology	8214	DGCR6	OMIM:192430
HP:0000492	Abnormal eyelid morphology	54487	DGCR8	OMIM:192430
HP:0000492	Abnormal eyelid morphology	84295	PHF6	ORPHA:127
HP:0000492	Abnormal eyelid morphology	84295	PHF6	OMIM:301900
HP:0000492	Abnormal eyelid morphology	27238	GPKOW	ORPHA:2570
HP:0000492	Abnormal eyelid morphology	1788	DNMT3A	OMIM:615879
HP:0000492	Abnormal eyelid morphology	8626	TP63	OMIM:604292
HP:0000492	Abnormal eyelid morphology	91179	SCARF2	OMIM:600920
HP:0000492	Abnormal eyelid morphology	2067	ERCC1	OMIM:610758
HP:0000492	Abnormal eyelid morphology	10265	IRX5	OMIM:611174
HP:0000492	Abnormal eyelid morphology	10082	GPC6	OMIM:258315
HP:0000492	Abnormal eyelid morphology	29895	MYL11	OMIM:619110
HP:0000492	Abnormal eyelid morphology	22931	RAB18	OMIM:614222
HP:0000492	Abnormal eyelid morphology	54880	BCOR	OMIM:300166
HP:0000492	Abnormal eyelid morphology	6299	SALL1	ORPHA:857
HP:0000492	Abnormal eyelid morphology	51339	DACT1	ORPHA:857
HP:0000492	Abnormal eyelid morphology	5557	PRIM1	OMIM:620005
HP:0000492	Abnormal eyelid morphology	23102	TBC1D2B	ORPHA:397973
HP:0000492	Abnormal eyelid morphology	104	ADARB1	OMIM:618862
HP:0000492	Abnormal eyelid morphology	57539	WDR35	OMIM:613610
HP:0000492	Abnormal eyelid morphology	7109	TRAPPC10	OMIM:620027
HP:0000492	Abnormal eyelid morphology	7109	TRAPPC10	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	55733	HHAT	OMIM:600092
HP:0000492	Abnormal eyelid morphology	7518	XRCC4	ORPHA:99812
HP:0000492	Abnormal eyelid morphology	3981	LIG4	ORPHA:99812
HP:0000492	Abnormal eyelid morphology	3981	LIG4	OMIM:606593
HP:0000492	Abnormal eyelid morphology	4774	NFIA	OMIM:613735
HP:0000492	Abnormal eyelid morphology	10084	PQBP1	ORPHA:93950
HP:0000492	Abnormal eyelid morphology	10084	PQBP1	ORPHA:93947
HP:0000492	Abnormal eyelid morphology	10084	PQBP1	OMIM:309500
HP:0000492	Abnormal eyelid morphology	197131	UBR1	OMIM:243800
HP:0000492	Abnormal eyelid morphology	283489	CHAMP1	OMIM:616579
HP:0000492	Abnormal eyelid morphology	80055	PGAP1	OMIM:615802
HP:0000492	Abnormal eyelid morphology	2314	FLII	ORPHA:819
HP:0000492	Abnormal eyelid morphology	23096	IQSEC2	ORPHA:819
HP:0000492	Abnormal eyelid morphology	10522	DEAF1	ORPHA:819
HP:0000492	Abnormal eyelid morphology	10522	DEAF1	OMIM:615828
HP:0000492	Abnormal eyelid morphology	10225	CD96	OMIM:211750
HP:0000492	Abnormal eyelid morphology	10225	CD96	ORPHA:1308
HP:0000492	Abnormal eyelid morphology	8913	CACNA1G	OMIM:618087
HP:0000492	Abnormal eyelid morphology	5191	PEX7	OMIM:215100
HP:0000492	Abnormal eyelid morphology	8546	AP3B1	OMIM:608233
HP:0000492	Abnormal eyelid morphology	7020	TFAP2A	OMIM:113620
HP:0000492	Abnormal eyelid morphology	7020	TFAP2A	ORPHA:1297
HP:0000492	Abnormal eyelid morphology	9896	FIG4	ORPHA:3472
HP:0000492	Abnormal eyelid morphology	9896	FIG4	OMIM:216340
HP:0000492	Abnormal eyelid morphology	55697	VAC14	ORPHA:3472
HP:0000492	Abnormal eyelid morphology	10087	CERT1	OMIM:616351
HP:0000492	Abnormal eyelid morphology	4212	MEIS2	OMIM:600987
HP:0000492	Abnormal eyelid morphology	23036	ZNF292	OMIM:619188
HP:0000492	Abnormal eyelid morphology	79813	EHMT1	OMIM:610253
HP:0000492	Abnormal eyelid morphology	93627	TBCK	ORPHA:488632
HP:0000492	Abnormal eyelid morphology	1954	MEGF8	OMIM:614976
HP:0000492	Abnormal eyelid morphology	84300	UQCC2	OMIM:615824
HP:0000492	Abnormal eyelid morphology	26057	ANKRD17	OMIM:619504
HP:0000492	Abnormal eyelid morphology	26005	C2CD3	OMIM:615948
HP:0000492	Abnormal eyelid morphology	26005	C2CD3	ORPHA:434179
HP:0000492	Abnormal eyelid morphology	1174	AP1S1	OMIM:609313
HP:0000492	Abnormal eyelid morphology	3192	HNRNPU	ORPHA:238769
HP:0000492	Abnormal eyelid morphology	9653	HS2ST1	OMIM:619194
HP:0000492	Abnormal eyelid morphology	10801	SEPTIN9	OMIM:162100
HP:0000492	Abnormal eyelid morphology	7025	NR2F1	ORPHA:401777
HP:0000492	Abnormal eyelid morphology	7025	NR2F1	OMIM:615722
HP:0000492	Abnormal eyelid morphology	26038	CHD5	OMIM:619873
HP:0000492	Abnormal eyelid morphology	3043	HBB	ORPHA:231214
HP:0000492	Abnormal eyelid morphology	3043	HBB	ORPHA:231226
HP:0000492	Abnormal eyelid morphology	84879	MFSD2A	OMIM:616486
HP:0000492	Abnormal eyelid morphology	84879	MFSD2A	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	5063	PAK3	OMIM:300558
HP:0000492	Abnormal eyelid morphology	8363	H4C11	OMIM:619759
HP:0000492	Abnormal eyelid morphology	116115	ZNF526	OMIM:619877
HP:0000492	Abnormal eyelid morphology	8364	H4C3	OMIM:619758
HP:0000492	Abnormal eyelid morphology	286	ANK1	ORPHA:251066
HP:0000492	Abnormal eyelid morphology	9719	ADAMTSL2	OMIM:231050
HP:0000492	Abnormal eyelid morphology	55210	ATAD3A	ORPHA:496790
HP:0000492	Abnormal eyelid morphology	55210	ATAD3A	OMIM:617183
HP:0000492	Abnormal eyelid morphology	56098	PCDHGC4	OMIM:619880
HP:0000492	Abnormal eyelid morphology	113179	ADAT3	OMIM:615286
HP:0000492	Abnormal eyelid morphology	113179	ADAT3	ORPHA:363528
HP:0000492	Abnormal eyelid morphology	4849	CNOT3	OMIM:618672
HP:0000492	Abnormal eyelid morphology	182	JAG1	OMIM:118450
HP:0000492	Abnormal eyelid morphology	6925	TCF4	OMIM:610954
HP:0000492	Abnormal eyelid morphology	6925	TCF4	ORPHA:2896
HP:0000492	Abnormal eyelid morphology	4208	MEF2C	ORPHA:228384
HP:0000492	Abnormal eyelid morphology	4208	MEF2C	OMIM:613443
HP:0000492	Abnormal eyelid morphology	5373	PMM2	ORPHA:79318
HP:0000492	Abnormal eyelid morphology	4677	NARS1	OMIM:619092
HP:0000492	Abnormal eyelid morphology	8242	KDM5C	OMIM:300534
HP:0000492	Abnormal eyelid morphology	23162	MAPK8IP3	OMIM:618443
HP:0000492	Abnormal eyelid morphology	79989	IFT56	OMIM:619534
HP:0000492	Abnormal eyelid morphology	23483	TGDS	OMIM:616145
HP:0000492	Abnormal eyelid morphology	546	ATRX	OMIM:309580
HP:0000492	Abnormal eyelid morphology	92154	MTSS2	OMIM:620086
HP:0000492	Abnormal eyelid morphology	7546	ZIC2	OMIM:609637
HP:0000492	Abnormal eyelid morphology	171023	ASXL1	OMIM:605039
HP:0000492	Abnormal eyelid morphology	55023	PHIP	ORPHA:589905
HP:0000492	Abnormal eyelid morphology	55023	PHIP	OMIM:617991
HP:0000492	Abnormal eyelid morphology	8295	TRRAP	OMIM:618454
HP:0000492	Abnormal eyelid morphology	9742	IFT140	OMIM:266920
HP:0000492	Abnormal eyelid morphology	54101	RIPK4	OMIM:263650
HP:0000492	Abnormal eyelid morphology	7319	UBE2A	ORPHA:163956
HP:0000492	Abnormal eyelid morphology	7319	UBE2A	OMIM:300860
HP:0000492	Abnormal eyelid morphology	55770	EXOC2	OMIM:619306
HP:0000492	Abnormal eyelid morphology	55670	PEX26	ORPHA:912
HP:0000492	Abnormal eyelid morphology	5824	PEX19	ORPHA:912
HP:0000492	Abnormal eyelid morphology	8799	PEX11B	ORPHA:912
HP:0000492	Abnormal eyelid morphology	9409	PEX16	ORPHA:912
HP:0000492	Abnormal eyelid morphology	5193	PEX12	ORPHA:912
HP:0000492	Abnormal eyelid morphology	5194	PEX13	ORPHA:912
HP:0000492	Abnormal eyelid morphology	5195	PEX14	ORPHA:912
HP:0000492	Abnormal eyelid morphology	5192	PEX10	ORPHA:912
HP:0000492	Abnormal eyelid morphology	9230	RAB11B	OMIM:617807
HP:0000492	Abnormal eyelid morphology	55081	IFT57	OMIM:617927
HP:0000492	Abnormal eyelid morphology	9488	PIGB	OMIM:618580
HP:0000492	Abnormal eyelid morphology	1281	COL3A1	OMIM:618343
HP:0000492	Abnormal eyelid morphology	1859	DYRK1A	ORPHA:268261
HP:0000492	Abnormal eyelid morphology	50814	NSDHL	ORPHA:251383
HP:0000492	Abnormal eyelid morphology	50814	NSDHL	OMIM:300831
HP:0000492	Abnormal eyelid morphology	7681	MKRN3	OMIM:176270
HP:0000492	Abnormal eyelid morphology	3653	IPW	OMIM:176270
HP:0000492	Abnormal eyelid morphology	791114	PWRN1	OMIM:176270
HP:0000492	Abnormal eyelid morphology	100033413	SNORD116-1	OMIM:176270
HP:0000492	Abnormal eyelid morphology	8924	HERC2	OMIM:176270
HP:0000492	Abnormal eyelid morphology	145624	PWAR1	OMIM:176270
HP:0000492	Abnormal eyelid morphology	23742	NPAP1	OMIM:176270
HP:0000492	Abnormal eyelid morphology	338433	SNORD115-1	OMIM:176270
HP:0000492	Abnormal eyelid morphology	23030	KDM4B	OMIM:619320
HP:0000492	Abnormal eyelid morphology	6492	SIM1	ORPHA:171829
HP:0000492	Abnormal eyelid morphology	84162	BLTP1	OMIM:617822
HP:0000492	Abnormal eyelid morphology	55784	MCTP2	ORPHA:1596
HP:0000492	Abnormal eyelid morphology	3097	HIVEP2	OMIM:616977
HP:0000492	Abnormal eyelid morphology	4952	OCRL	ORPHA:534
HP:0000492	Abnormal eyelid morphology	6904	TBCD	ORPHA:496641
HP:0000492	Abnormal eyelid morphology	6904	TBCD	OMIM:617193
HP:0000492	Abnormal eyelid morphology	1741	DLG3	OMIM:300850
HP:0000492	Abnormal eyelid morphology	51116	MRPS2	OMIM:617950
HP:0000492	Abnormal eyelid morphology	55906	ZC4H2	OMIM:314580
HP:0000492	Abnormal eyelid morphology	23389	MED13L	ORPHA:369891
HP:0000492	Abnormal eyelid morphology	23389	MED13L	OMIM:616789
HP:0000492	Abnormal eyelid morphology	9241	NOG	OMIM:186500
HP:0000492	Abnormal eyelid morphology	1781	DYNC1I2	OMIM:618492
HP:0000492	Abnormal eyelid morphology	9451	EIF2AK3	OMIM:226980
HP:0000492	Abnormal eyelid morphology	5277	PIGA	OMIM:300868
HP:0000492	Abnormal eyelid morphology	25	ABL1	OMIM:617602
HP:0000492	Abnormal eyelid morphology	6638	SNRPN	ORPHA:177907
HP:0000492	Abnormal eyelid morphology	59336	PRDM13	OMIM:619909
HP:0000492	Abnormal eyelid morphology	10771	ZMYND11	OMIM:616083
HP:0000492	Abnormal eyelid morphology	6611	SMS	ORPHA:3063
HP:0000492	Abnormal eyelid morphology	11212	PLPBP	OMIM:617290
HP:0000492	Abnormal eyelid morphology	84265	POLR3GL	OMIM:619234
HP:0000492	Abnormal eyelid morphology	348180	CTU2	OMIM:618142
HP:0000492	Abnormal eyelid morphology	51604	PIGT	ORPHA:369837
HP:0000492	Abnormal eyelid morphology	1861	TOR1A	OMIM:618947
HP:0000492	Abnormal eyelid morphology	9894	TELO2	ORPHA:488642
HP:0000492	Abnormal eyelid morphology	80036	TRPM3	OMIM:620224
HP:0000492	Abnormal eyelid morphology	25914	RTTN	ORPHA:468631
HP:0000492	Abnormal eyelid morphology	8936	WASF1	OMIM:618707
HP:0000492	Abnormal eyelid morphology	63932	STEEP1	OMIM:301013
HP:0000492	Abnormal eyelid morphology	23556	PIGN	ORPHA:280633
HP:0000492	Abnormal eyelid morphology	54870	QRICH1	OMIM:617982
HP:0000492	Abnormal eyelid morphology	9508	ADAMTS3	OMIM:618154
HP:0000492	Abnormal eyelid morphology	90416	CCDC32	OMIM:619123
HP:0000492	Abnormal eyelid morphology	6911	TBX6	ORPHA:1797
HP:0000492	Abnormal eyelid morphology	10551	AGR2	OMIM:620233
HP:0000492	Abnormal eyelid morphology	9320	TRIP12	OMIM:617752
HP:0000492	Abnormal eyelid morphology	1315	COPB1	OMIM:619255
HP:0000492	Abnormal eyelid morphology	4724	NDUFS4	OMIM:252010
HP:0000492	Abnormal eyelid morphology	3295	HSD17B4	OMIM:261515
HP:0000492	Abnormal eyelid morphology	9276	COPB2	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	11113	CIT	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	9928	KIF14	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	284403	WDR62	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	55262	TRAPPC14	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	163786	SASS6	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	4176	MCM7	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	80254	CEP63	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	29081	METTL5	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	23310	NCAPD3	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	55755	CDK5RAP2	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	79648	MCPH1	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	6491	STIL	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	23141	ANKLE2	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	259266	ASPM	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	1911	PHC1	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	6884	TAF13	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	9662	CEP135	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	57082	KNL1	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	1021	CDK6	ORPHA:2512
HP:0000492	Abnormal eyelid morphology	23133	PHF8	OMIM:300263
HP:0000492	Abnormal eyelid morphology	11011	TLK2	OMIM:618050
HP:0000492	Abnormal eyelid morphology	4204	MECP2	OMIM:300260
HP:0000492	Abnormal eyelid morphology	129285	PPP1R21	OMIM:619383
HP:0000492	Abnormal eyelid morphology	114034	TOE1	ORPHA:284339
HP:0000492	Abnormal eyelid morphology	9562	MINPP1	ORPHA:284339
HP:0000492	Abnormal eyelid morphology	11141	IL1RAPL1	OMIM:300143
HP:0000492	Abnormal eyelid morphology	27161	AGO2	OMIM:619149
HP:0000492	Abnormal eyelid morphology	10844	TUBGCP2	OMIM:618737
HP:0000492	Abnormal eyelid morphology	84148	KAT8	OMIM:618974
HP:0000492	Abnormal eyelid morphology	3480	IGF1R	OMIM:270450
HP:0000492	Abnormal eyelid morphology	3106	HLA-B	ORPHA:36426
HP:0000492	Abnormal eyelid morphology	10320	IKZF1	ORPHA:36426
HP:0000492	Abnormal eyelid morphology	1643	DDB2	OMIM:278740
HP:0000492	Abnormal eyelid morphology	1643	DDB2	ORPHA:910
HP:0000492	Abnormal eyelid morphology	5429	POLH	OMIM:278750
HP:0000492	Abnormal eyelid morphology	7508	XPC	OMIM:278720
HP:0000492	Abnormal eyelid morphology	7508	XPC	ORPHA:910
HP:0000492	Abnormal eyelid morphology	2068	ERCC2	OMIM:278730
HP:0000492	Abnormal eyelid morphology	2068	ERCC2	ORPHA:910
HP:0000492	Abnormal eyelid morphology	7507	XPA	OMIM:278700
HP:0000492	Abnormal eyelid morphology	7507	XPA	ORPHA:910
HP:0000492	Abnormal eyelid morphology	2071	ERCC3	ORPHA:910
HP:0000492	Abnormal eyelid morphology	2073	ERCC5	ORPHA:910
HP:0000492	Abnormal eyelid morphology	6154	RPL26	OMIM:614900
HP:0000492	Abnormal eyelid morphology	10535	RNASEH2A	ORPHA:51
HP:0000492	Abnormal eyelid morphology	84153	RNASEH2C	ORPHA:51
HP:0000492	Abnormal eyelid morphology	25939	SAMHD1	ORPHA:51
HP:0000492	Abnormal eyelid morphology	79621	RNASEH2B	ORPHA:51
HP:0000492	Abnormal eyelid morphology	103	ADAR	ORPHA:51
HP:0000492	Abnormal eyelid morphology	11277	TREX1	ORPHA:51
HP:0000492	Abnormal eyelid morphology	100147744	RNU7-1	ORPHA:51
HP:0000492	Abnormal eyelid morphology	134353	LSM11	ORPHA:51
HP:0000492	Abnormal eyelid morphology	64135	IFIH1	ORPHA:51
HP:0000492	Abnormal eyelid morphology	9723	SEMA3E	ORPHA:138
HP:0000492	Abnormal eyelid morphology	8092	ALX1	OMIM:613456
HP:0000492	Abnormal eyelid morphology	158326	FREM1	ORPHA:2717
HP:0000492	Abnormal eyelid morphology	7291	TWIST1	OMIM:617746
HP:0000492	Abnormal eyelid morphology	1009	CDH11	OMIM:619736
HP:0000492	Abnormal eyelid morphology	10992	SF3B2	OMIM:164210
HP:0000492	Abnormal eyelid morphology	80144	FRAS1	OMIM:219000
HP:0000492	Abnormal eyelid morphology	6949	TCOF1	OMIM:154500
HP:0000492	Abnormal eyelid morphology	699	BUB1	OMIM:620183
HP:0000492	Abnormal eyelid morphology	23013	SPEN	OMIM:619312
HP:0000492	Abnormal eyelid morphology	8812	CCNK	OMIM:618147
HP:0000492	Abnormal eyelid morphology	9759	HDAC4	OMIM:619797
HP:0000492	Abnormal eyelid morphology	10526	IPO8	OMIM:619472
HP:0000492	Abnormal eyelid morphology	9158	FIBP	ORPHA:500095
HP:0000492	Abnormal eyelid morphology	9158	FIBP	OMIM:617107
HP:0000492	Abnormal eyelid morphology	6711	SPTBN1	OMIM:619475
HP:0000492	Abnormal eyelid morphology	51633	OTUD6B	OMIM:617452
HP:0000492	Abnormal eyelid morphology	51633	OTUD6B	ORPHA:505237
HP:0000492	Abnormal eyelid morphology	29123	ANKRD11	ORPHA:2332
HP:0000492	Abnormal eyelid morphology	29123	ANKRD11	OMIM:148050
HP:0000492	Abnormal eyelid morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0000492	Abnormal eyelid morphology	100151683	RNU4ATAC	OMIM:616651
HP:0000492	Abnormal eyelid morphology	84720	PIGO	OMIM:614749
HP:0000492	Abnormal eyelid morphology	84720	PIGO	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	8405	SPOP	OMIM:618829
HP:0000492	Abnormal eyelid morphology	3190	HNRNPK	ORPHA:453504
HP:0000492	Abnormal eyelid morphology	3190	HNRNPK	OMIM:616580
HP:0000492	Abnormal eyelid morphology	3190	HNRNPK	ORPHA:352665
HP:0000492	Abnormal eyelid morphology	51611	DPH5	OMIM:620070
HP:0000492	Abnormal eyelid morphology	57459	GATAD2B	ORPHA:363686
HP:0000492	Abnormal eyelid morphology	3636	INPPL1	OMIM:258480
HP:0000492	Abnormal eyelid morphology	10978	CLP1	ORPHA:411493
HP:0000492	Abnormal eyelid morphology	10978	CLP1	OMIM:615803
HP:0000492	Abnormal eyelid morphology	1759	DNM1	OMIM:620352
HP:0000492	Abnormal eyelid morphology	55650	PIGV	OMIM:239300
HP:0000492	Abnormal eyelid morphology	55650	PIGV	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	4920	ROR2	OMIM:268310
HP:0000492	Abnormal eyelid morphology	4920	ROR2	ORPHA:1507
HP:0000492	Abnormal eyelid morphology	5296	PIK3R2	OMIM:603387
HP:0000492	Abnormal eyelid morphology	84992	PIGY	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	93210	PGAP3	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	284098	PIGW	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	27315	PGAP2	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	27315	PGAP2	OMIM:614207
HP:0000492	Abnormal eyelid morphology	9487	PIGL	ORPHA:247262
HP:0000492	Abnormal eyelid morphology	4001	LMNB1	OMIM:619179
HP:0000492	Abnormal eyelid morphology	818	CAMK2G	OMIM:618522
HP:0000492	Abnormal eyelid morphology	5879	RAC1	OMIM:617751
HP:0000492	Abnormal eyelid morphology	24140	FTSJ1	OMIM:309549
HP:0000492	Abnormal eyelid morphology	92255	LMBRD2	OMIM:619694
HP:0000492	Abnormal eyelid morphology	1984	EIF5A	OMIM:619376
HP:0000492	Abnormal eyelid morphology	8120	AP3B2	OMIM:617276
HP:0000492	Abnormal eyelid morphology	57479	PRR12	OMIM:619539
HP:0000492	Abnormal eyelid morphology	79718	TBL1XR1	OMIM:616944
HP:0000492	Abnormal eyelid morphology	5604	MAP2K1	ORPHA:1340
HP:0000492	Abnormal eyelid morphology	5605	MAP2K2	ORPHA:1340
HP:0000492	Abnormal eyelid morphology	673	BRAF	ORPHA:1340
HP:0000492	Abnormal eyelid morphology	64359	NXN	ORPHA:1507
HP:0000492	Abnormal eyelid morphology	7043	TGFB3	OMIM:615582
HP:0000492	Abnormal eyelid morphology	7403	KDM6A	OMIM:300867
HP:0000492	Abnormal eyelid morphology	7403	KDM6A	OMIM:147920
HP:0000492	Abnormal eyelid morphology	1523	CUX1	OMIM:618330
HP:0000492	Abnormal eyelid morphology	5144	PDE4D	ORPHA:439822
HP:0000492	Abnormal eyelid morphology	5813	PURA	ORPHA:438216
HP:0000492	Abnormal eyelid morphology	5813	PURA	OMIM:616158
HP:0000492	Abnormal eyelid morphology	170302	ARX	OMIM:300419
HP:0000492	Abnormal eyelid morphology	649	BMP1	OMIM:614856
HP:0000492	Abnormal eyelid morphology	2783	GNB2	OMIM:619503
HP:0000492	Abnormal eyelid morphology	27445	PCLO	OMIM:608027
HP:0000492	Abnormal eyelid morphology	8085	KMT2D	OMIM:147920
HP:0000492	Abnormal eyelid morphology	147495	APCDD1	OMIM:605389
HP:0000492	Abnormal eyelid morphology	147495	APCDD1	ORPHA:55654
HP:0000492	Abnormal eyelid morphology	81607	NECTIN4	OMIM:613573
HP:0000492	Abnormal eyelid morphology	1825	DSC3	OMIM:613102
HP:0000492	Abnormal eyelid morphology	9076	CLDN1	ORPHA:59303
HP:0000492	Abnormal eyelid morphology	9076	CLDN1	OMIM:607626
HP:0000492	Abnormal eyelid morphology	112802	KRT71	OMIM:615896
HP:0000492	Abnormal eyelid morphology	22845	DOLK	OMIM:610768
HP:0000492	Abnormal eyelid morphology	7286	TUFT1	OMIM:607655
HP:0000492	Abnormal eyelid morphology	1474	CST6	OMIM:618535
HP:0000492	Abnormal eyelid morphology	374393	FAM111B	OMIM:615704
HP:0000492	Abnormal eyelid morphology	200879	LIPH	OMIM:604379
HP:0000492	Abnormal eyelid morphology	200879	LIPH	ORPHA:55654
HP:0000492	Abnormal eyelid morphology	147183	KRT25	OMIM:616760
HP:0000492	Abnormal eyelid morphology	1001	CDH3	OMIM:225280
HP:0000492	Abnormal eyelid morphology	1909	EDNRA	OMIM:616367
HP:0000492	Abnormal eyelid morphology	3675	ITGA3	OMIM:614748
HP:0000492	Abnormal eyelid morphology	10913	EDAR	OMIM:129490
HP:0000492	Abnormal eyelid morphology	10913	EDAR	OMIM:224900
HP:0000492	Abnormal eyelid morphology	10161	LPAR6	ORPHA:55654
HP:0000492	Abnormal eyelid morphology	10161	LPAR6	OMIM:278150
HP:0000492	Abnormal eyelid morphology	25959	KANK2	OMIM:616099
HP:0000492	Abnormal eyelid morphology	54676	GTPBP2	OMIM:617988
HP:0000492	Abnormal eyelid morphology	84946	LTV1	OMIM:620199
HP:0000492	Abnormal eyelid morphology	8815	BANF1	OMIM:614008
HP:0000492	Abnormal eyelid morphology	641	BLM	ORPHA:125
HP:0000492	Abnormal eyelid morphology	120766137	HRURF	OMIM:146550
HP:0000492	Abnormal eyelid morphology	7227	TRPS1	ORPHA:77258
HP:0000492	Abnormal eyelid morphology	11005	SPINK5	ORPHA:634
HP:0000492	Abnormal eyelid morphology	242	ALOX12B	OMIM:242100
HP:0000492	Abnormal eyelid morphology	242	ALOX12B	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	242	ALOX12B	ORPHA:313
HP:0000492	Abnormal eyelid morphology	59344	ALOXE3	OMIM:242100
HP:0000492	Abnormal eyelid morphology	59344	ALOXE3	OMIM:606545
HP:0000492	Abnormal eyelid morphology	59344	ALOXE3	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	59344	ALOXE3	ORPHA:313
HP:0000492	Abnormal eyelid morphology	7051	TGM1	OMIM:242300
HP:0000492	Abnormal eyelid morphology	7051	TGM1	ORPHA:100976
HP:0000492	Abnormal eyelid morphology	7051	TGM1	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	7051	TGM1	ORPHA:313
HP:0000492	Abnormal eyelid morphology	26154	ABCA12	OMIM:242500
HP:0000492	Abnormal eyelid morphology	26154	ABCA12	ORPHA:457
HP:0000492	Abnormal eyelid morphology	26154	ABCA12	OMIM:601277
HP:0000492	Abnormal eyelid morphology	26154	ABCA12	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	26154	ABCA12	ORPHA:313
HP:0000492	Abnormal eyelid morphology	348938	NIPAL4	OMIM:612281
HP:0000492	Abnormal eyelid morphology	348938	NIPAL4	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	348938	NIPAL4	ORPHA:313
HP:0000492	Abnormal eyelid morphology	5339	PLEC	OMIM:226730
HP:0000492	Abnormal eyelid morphology	3691	ITGB4	OMIM:226730
HP:0000492	Abnormal eyelid morphology	3691	ITGB4	ORPHA:79403
HP:0000492	Abnormal eyelid morphology	2629	GBA1	ORPHA:85212
HP:0000492	Abnormal eyelid morphology	79092	CARD14	OMIM:173200
HP:0000492	Abnormal eyelid morphology	51099	ABHD5	OMIM:275630
HP:0000492	Abnormal eyelid morphology	51099	ABHD5	ORPHA:98907
HP:0000492	Abnormal eyelid morphology	3655	ITGA6	ORPHA:79403
HP:0000492	Abnormal eyelid morphology	267010	RNU12	OMIM:603116
HP:0000492	Abnormal eyelid morphology	3858	KRT10	OMIM:609165
HP:0000492	Abnormal eyelid morphology	204219	CERS3	OMIM:615023
HP:0000492	Abnormal eyelid morphology	204219	CERS3	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	285848	PNPLA1	ORPHA:79394
HP:0000492	Abnormal eyelid morphology	1906	EDN1	OMIM:615706
HP:0000492	Abnormal eyelid morphology	151516	ASPRV1	ORPHA:313
HP:0000492	Abnormal eyelid morphology	126410	CYP4F22	ORPHA:313
HP:0000492	Abnormal eyelid morphology	6820	SULT2B1	ORPHA:313
HP:0000492	Abnormal eyelid morphology	643418	LIPN	ORPHA:313
HP:0000492	Abnormal eyelid morphology	121214	SDR9C7	ORPHA:313
HP:0000492	Abnormal eyelid morphology	255738	PCSK9	OMIM:603776
HP:0000492	Abnormal eyelid morphology	338	APOB	OMIM:144010
HP:0000492	Abnormal eyelid morphology	336	APOA2	OMIM:143890
HP:0000492	Abnormal eyelid morphology	2053	EPHX2	OMIM:143890
HP:0000492	Abnormal eyelid morphology	10842	PPP1R17	OMIM:143890
HP:0000492	Abnormal eyelid morphology	2690	GHR	OMIM:143890
HP:0000492	Abnormal eyelid morphology	3949	LDLR	OMIM:143890
HP:0000492	Abnormal eyelid morphology	2538	G6PC1	OMIM:232200
HP:0000492	Abnormal eyelid morphology	4023	LPL	OMIM:144250
HP:0000492	Abnormal eyelid morphology	7274	TTPA	OMIM:277460
HP:0000492	Abnormal eyelid morphology	2542	SLC37A4	OMIM:232220
HP:0000492	Abnormal eyelid morphology	2542	SLC37A4	OMIM:232240
HP:0000492	Abnormal eyelid morphology	2542	SLC37A4	ORPHA:79259
HP:0000492	Abnormal eyelid morphology	64241	ABCG8	OMIM:210250
HP:0000492	Abnormal eyelid morphology	335	APOA1	ORPHA:425
HP:0000492	Abnormal eyelid morphology	23426	GRIP1	OMIM:617667
HP:0000492	Abnormal eyelid morphology	23426	GRIP1	ORPHA:2052
HP:0000492	Abnormal eyelid morphology	341640	FREM2	OMIM:617666
HP:0000492	Abnormal eyelid morphology	341640	FREM2	OMIM:123570
HP:0000492	Abnormal eyelid morphology	341640	FREM2	ORPHA:2052
HP:0000492	Abnormal eyelid morphology	79083	MLPH	OMIM:609227
HP:0000492	Abnormal eyelid morphology	4157	MC1R	ORPHA:79432
HP:0000492	Abnormal eyelid morphology	7306	TYRP1	ORPHA:79433
HP:0000492	Abnormal eyelid morphology	3815	KIT	ORPHA:2884
HP:0000492	Abnormal eyelid morphology	4644	MYO5A	OMIM:214450
HP:0000492	Abnormal eyelid morphology	2892	GRIA3	ORPHA:364028
HP:0000492	Abnormal eyelid morphology	6768	ST14	OMIM:602400
HP:0000492	Abnormal eyelid morphology	10735	STAG2	OMIM:301022
HP:0000492	Abnormal eyelid morphology	2972	BRF1	ORPHA:444072
HP:0000492	Abnormal eyelid morphology	668	FOXL2	ORPHA:572333
HP:0000492	Abnormal eyelid morphology	4692	NDN	ORPHA:177904
HP:0000492	Abnormal eyelid morphology	4692	NDN	ORPHA:177901
HP:0000492	Abnormal eyelid morphology	4692	NDN	ORPHA:98754
HP:0000492	Abnormal eyelid morphology	4948	OCA2	ORPHA:177904
HP:0000492	Abnormal eyelid morphology	4948	OCA2	ORPHA:177901
HP:0000492	Abnormal eyelid morphology	4948	OCA2	ORPHA:98754
HP:0000492	Abnormal eyelid morphology	10300	KATNB1	OMIM:616212
HP:0000492	Abnormal eyelid morphology	84520	GON7	OMIM:619603
HP:0000492	Abnormal eyelid morphology	387	RHOA	OMIM:618727
HP:0000492	Abnormal eyelid morphology	84570	COL25A1	ORPHA:91411
HP:0000492	Abnormal eyelid morphology	79776	ZFHX4	ORPHA:91411
HP:0000492	Abnormal eyelid morphology	51621	KLF13	OMIM:612001
HP:0000492	Abnormal eyelid morphology	80324	PUS1	OMIM:600462
HP:0000492	Abnormal eyelid morphology	80324	PUS1	ORPHA:2598
HP:0000492	Abnormal eyelid morphology	117581	TWIST2	ORPHA:1807
HP:0000492	Abnormal eyelid morphology	117581	TWIST2	OMIM:227260
HP:0000492	Abnormal eyelid morphology	2303	FOXC2	OMIM:153400
HP:0000492	Abnormal eyelid morphology	2303	FOXC2	ORPHA:33001
HP:0000492	Abnormal eyelid morphology	51067	YARS2	ORPHA:2598
HP:0000492	Abnormal eyelid morphology	3339	HSPG2	ORPHA:800
HP:0000492	Abnormal eyelid morphology	3664	IRF6	OMIM:119500
HP:0000492	Abnormal eyelid morphology	3664	IRF6	ORPHA:1300
HP:0000492	Abnormal eyelid morphology	22858	CILK1	OMIM:612651
HP:0000492	Abnormal eyelid morphology	30062	RAX	OMIM:611038
HP:0000492	Abnormal eyelid morphology	1147	CHUK	OMIM:619339
HP:0000492	Abnormal eyelid morphology	50940	PDE11A	ORPHA:1359
HP:0000492	Abnormal eyelid morphology	2934	GSN	ORPHA:85448
HP:0000492	Abnormal eyelid morphology	8313	AXIN2	OMIM:608615
HP:0000492	Abnormal eyelid morphology	4047	LSS	OMIM:618275
HP:0000492	Abnormal eyelid morphology	80326	WNT10A	OMIM:150400
HP:0000492	Abnormal eyelid morphology	29968	PSAT1	OMIM:616038
HP:0000492	Abnormal eyelid morphology	26227	PHGDH	OMIM:256520
HP:0000492	Abnormal eyelid morphology	10588	MTHFS	OMIM:618367
HP:0000492	Abnormal eyelid morphology	54892	NCAPG2	OMIM:618460
HP:0000492	Abnormal eyelid morphology	6659	SOX4	ORPHA:1465
HP:0000492	Abnormal eyelid morphology	6602	SMARCD1	ORPHA:1465
HP:0000492	Abnormal eyelid morphology	55605	KIF21A	OMIM:135700
HP:0000492	Abnormal eyelid morphology	7994	KAT6A	OMIM:616268
HP:0000492	Abnormal eyelid morphology	22827	PUF60	ORPHA:508498
HP:0000492	Abnormal eyelid morphology	91949	COG7	OMIM:608779
HP:0000492	Abnormal eyelid morphology	51574	LARP7	OMIM:615071
HP:0000492	Abnormal eyelid morphology	51574	LARP7	ORPHA:319671
HP:0000492	Abnormal eyelid morphology	8367	H4C5	OMIM:619950
HP:0000492	Abnormal eyelid morphology	60529	ALX4	OMIM:613451
HP:0000492	Abnormal eyelid morphology	220	ALDH1A3	OMIM:615113
HP:0000492	Abnormal eyelid morphology	23394	ADNP	OMIM:615873
HP:0000492	Abnormal eyelid morphology	55627	SMPD4	OMIM:618622
HP:0000492	Abnormal eyelid morphology	145173	B3GLCT	ORPHA:709
HP:0000492	Abnormal eyelid morphology	3703	STT3A	OMIM:619714
HP:0000492	Abnormal eyelid morphology	5575	PRKAR1B	OMIM:619680
HP:0000492	Abnormal eyelid morphology	7707	ZNF148	OMIM:617260
HP:0000492	Abnormal eyelid morphology	6662	SOX9	OMIM:114290
HP:0000492	Abnormal eyelid morphology	10982	MAPRE2	OMIM:616734
HP:0000492	Abnormal eyelid morphology	29072	SETD2	OMIM:620157
HP:0000492	Abnormal eyelid morphology	29072	SETD2	OMIM:620155
HP:0000492	Abnormal eyelid morphology	55780	ERMARD	ORPHA:75857
HP:0000492	Abnormal eyelid morphology	57231	SNX14	ORPHA:397709
HP:0000492	Abnormal eyelid morphology	57231	SNX14	OMIM:616354
HP:0000492	Abnormal eyelid morphology	4297	KMT2A	OMIM:605130
HP:0000492	Abnormal eyelid morphology	4297	KMT2A	ORPHA:319182
HP:0000492	Abnormal eyelid morphology	56992	KIF15	ORPHA:261323
HP:0000492	Abnormal eyelid morphology	284058	KANSL1	ORPHA:363958
HP:0000492	Abnormal eyelid morphology	284058	KANSL1	ORPHA:363965
HP:0000492	Abnormal eyelid morphology	4998	ORC1	OMIM:224690
HP:0000492	Abnormal eyelid morphology	3899	AFF3	OMIM:619297
HP:0000492	Abnormal eyelid morphology	54496	PRMT7	OMIM:617157
HP:0000492	Abnormal eyelid morphology	81788	NUAK2	OMIM:619452
HP:0000492	Abnormal eyelid morphology	1108	CHD4	OMIM:617159
HP:0000492	Abnormal eyelid morphology	7841	MOGS	OMIM:606056
HP:0000492	Abnormal eyelid morphology	7841	MOGS	ORPHA:79330
HP:0000492	Abnormal eyelid morphology	672	BRCA1	ORPHA:84
HP:0000492	Abnormal eyelid morphology	10459	MAD2L2	ORPHA:84
HP:0000492	Abnormal eyelid morphology	7516	XRCC2	ORPHA:84
HP:0000492	Abnormal eyelid morphology	29089	UBE2T	ORPHA:84
HP:0000492	Abnormal eyelid morphology	675	BRCA2	ORPHA:84
HP:0000492	Abnormal eyelid morphology	55120	FANCL	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2177	FANCD2	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2175	FANCA	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2187	FANCB	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2176	FANCC	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2178	FANCE	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2188	FANCF	ORPHA:84
HP:0000492	Abnormal eyelid morphology	2189	FANCG	ORPHA:84
HP:0000492	Abnormal eyelid morphology	5888	RAD51	ORPHA:84
HP:0000492	Abnormal eyelid morphology	5889	RAD51C	ORPHA:84
HP:0000492	Abnormal eyelid morphology	55159	RFWD3	ORPHA:84
HP:0000492	Abnormal eyelid morphology	83990	BRIP1	ORPHA:84
HP:0000492	Abnormal eyelid morphology	57697	FANCM	ORPHA:84
HP:0000492	Abnormal eyelid morphology	79728	PALB2	ORPHA:84
HP:0000492	Abnormal eyelid morphology	84464	SLX4	ORPHA:84
HP:0000492	Abnormal eyelid morphology	84464	SLX4	OMIM:613951
HP:0000492	Abnormal eyelid morphology	2072	ERCC4	ORPHA:84
HP:0000492	Abnormal eyelid morphology	55215	FANCI	ORPHA:84
HP:0000492	Abnormal eyelid morphology	3759	KCNJ2	OMIM:170390
HP:0000492	Abnormal eyelid morphology	3759	KCNJ2	ORPHA:37553
HP:0000492	Abnormal eyelid morphology	5422	POLA1	OMIM:301030
HP:0000492	Abnormal eyelid morphology	6899	TBX1	OMIM:188400
HP:0000492	Abnormal eyelid morphology	64919	BCL11B	OMIM:618092
HP:0000492	Abnormal eyelid morphology	64919	BCL11B	OMIM:617237
HP:0000492	Abnormal eyelid morphology	3977	LIFR	OMIM:601559
HP:0000492	Abnormal eyelid morphology	26053	AUTS2	ORPHA:352490
HP:0000492	Abnormal eyelid morphology	26053	AUTS2	OMIM:615834
HP:0000492	Abnormal eyelid morphology	84314	TMEM107	OMIM:617563
HP:0000492	Abnormal eyelid morphology	26040	SETBP1	OMIM:616078
HP:0000492	Abnormal eyelid morphology	3188	HNRNPH2	OMIM:300986
HP:0000492	Abnormal eyelid morphology	4613	MYCN	OMIM:164280
HP:0000492	Abnormal eyelid morphology	4613	MYCN	ORPHA:391641
HP:0000492	Abnormal eyelid morphology	57167	SALL4	ORPHA:959
HP:0000492	Abnormal eyelid morphology	57167	SALL4	ORPHA:233
HP:0000492	Abnormal eyelid morphology	79633	FAT4	OMIM:615546
HP:0000492	Abnormal eyelid morphology	54551	MAGEL2	OMIM:615547
HP:0000492	Abnormal eyelid morphology	89910	UBE3B	ORPHA:2707
HP:0000492	Abnormal eyelid morphology	25942	SIN3A	OMIM:613406
HP:0000492	Abnormal eyelid morphology	8642	DCHS1	OMIM:601390
HP:0000492	Abnormal eyelid morphology	2697	GJA1	OMIM:164200
HP:0000492	Abnormal eyelid morphology	2697	GJA1	OMIM:257850
HP:0000492	Abnormal eyelid morphology	29980	DONSON	OMIM:251230
HP:0000492	Abnormal eyelid morphology	8241	RBM10	OMIM:311900
HP:0000492	Abnormal eyelid morphology	8241	RBM10	ORPHA:2886
HP:0000492	Abnormal eyelid morphology	9935	MAFB	ORPHA:233
HP:0000492	Abnormal eyelid morphology	1123	CHN1	ORPHA:233
HP:0000492	Abnormal eyelid morphology	4593	MUSK	OMIM:208150
HP:0000492	Abnormal eyelid morphology	29957	SLC25A24	OMIM:612289
HP:0000492	Abnormal eyelid morphology	25885	POLR1A	ORPHA:1200
HP:0000492	Abnormal eyelid morphology	10907	TXNL4A	ORPHA:1200
HP:0000492	Abnormal eyelid morphology	10907	TXNL4A	OMIM:608572
HP:0000492	Abnormal eyelid morphology	4659	PPP1R12A	OMIM:618820
HP:0000492	Abnormal eyelid morphology	8239	USP9X	ORPHA:480880
HP:0000492	Abnormal eyelid morphology	8239	USP9X	OMIM:300968
HP:0000492	Abnormal eyelid morphology	81031	SLC2A10	ORPHA:3342
HP:0000492	Abnormal eyelid morphology	81031	SLC2A10	OMIM:208050
HP:0000492	Abnormal eyelid morphology	23137	SMC5	OMIM:620185
HP:0000492	Abnormal eyelid morphology	10236	HNRNPR	OMIM:620073
HP:0000492	Abnormal eyelid morphology	6595	SMARCA2	ORPHA:3051
HP:0000492	Abnormal eyelid morphology	203068	TUBB	OMIM:156610
HP:0000492	Abnormal eyelid morphology	8567	MADD	OMIM:619004
HP:0000492	Abnormal eyelid morphology	8567	MADD	OMIM:619005
HP:0000492	Abnormal eyelid morphology	7358	UGDH	OMIM:618792
HP:0000492	Abnormal eyelid morphology	9702	CEP57	OMIM:614114
HP:0000492	Abnormal eyelid morphology	3845	KRAS	ORPHA:3339
HP:0000492	Abnormal eyelid morphology	10472	ZBTB18	OMIM:612337
HP:0000492	Abnormal eyelid morphology	64093	SMOC1	OMIM:206920
HP:0000492	Abnormal eyelid morphology	388015	RTL1	ORPHA:96334
HP:0000492	Abnormal eyelid morphology	8788	DLK1	ORPHA:96334
HP:0000492	Abnormal eyelid morphology	55384	MEG3	ORPHA:96334
HP:0000492	Abnormal eyelid morphology	51322	WAC	ORPHA:284169
HP:0000492	Abnormal eyelid morphology	8218	CLTCL1	ORPHA:453510
HP:0000492	Abnormal eyelid morphology	2186	BPTF	OMIM:617755
HP:0000492	Abnormal eyelid morphology	4000	LMNA	ORPHA:1662
HP:0000492	Abnormal eyelid morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000492	Abnormal eyelid morphology	10269	ZMPSTE24	OMIM:275210
HP:0000492	Abnormal eyelid morphology	23219	FBXO28	OMIM:619777
HP:0000492	Abnormal eyelid morphology	23522	KAT6B	ORPHA:3047
HP:0000492	Abnormal eyelid morphology	1387	CREBBP	OMIM:618332
HP:0000492	Abnormal eyelid morphology	6913	TBX15	OMIM:260660
HP:0000492	Abnormal eyelid morphology	55553	SOX6	OMIM:618971
HP:0000492	Abnormal eyelid morphology	2033	EP300	OMIM:618333
HP:0000492	Abnormal eyelid morphology	8621	CDK13	OMIM:617360
HP:0000492	Abnormal eyelid morphology	23404	EXOSC2	OMIM:617763
HP:0000492	Abnormal eyelid morphology	79228	THOC6	OMIM:613680
HP:0000492	Abnormal eyelid morphology	2702	GJA5	OMIM:612474
HP:0000492	Abnormal eyelid morphology	2703	GJA8	OMIM:612474
HP:0000492	Abnormal eyelid morphology	1642	DDB1	OMIM:619426
HP:0000492	Abnormal eyelid morphology	6664	SOX11	OMIM:615866
HP:0000492	Abnormal eyelid morphology	63895	PIEZO2	ORPHA:2461
HP:0000492	Abnormal eyelid morphology	3516	RBPJ	OMIM:614814
HP:0000492	Abnormal eyelid morphology	246329	STAC3	OMIM:255995
HP:0000492	Abnormal eyelid morphology	3762	KCNJ5	ORPHA:37553
HP:0000492	Abnormal eyelid morphology	4089	SMAD4	ORPHA:2588
HP:0000492	Abnormal eyelid morphology	10075	HUWE1	OMIM:309590
HP:0000492	Abnormal eyelid morphology	1748	DLX4	OMIM:616788
HP:0000492	Abnormal eyelid morphology	1857	DVL3	ORPHA:3107
HP:0000492	Abnormal eyelid morphology	7474	WNT5A	ORPHA:3107
HP:0000492	Abnormal eyelid morphology	1855	DVL1	ORPHA:3107
HP:0000492	Abnormal eyelid morphology	2535	FZD2	ORPHA:3107
HP:0000492	Abnormal eyelid morphology	999	CDH1	OMIM:119580
HP:0000492	Abnormal eyelid morphology	999	CDH1	ORPHA:1997
HP:0000492	Abnormal eyelid morphology	1500	CTNND1	OMIM:617681
HP:0000492	Abnormal eyelid morphology	1500	CTNND1	ORPHA:1997
HP:0000492	Abnormal eyelid morphology	71	ACTG1	ORPHA:2995
HP:0000492	Abnormal eyelid morphology	60	ACTB	ORPHA:2995
HP:0000492	Abnormal eyelid morphology	19	ABCA1	OMIM:205400
HP:0000492	Abnormal eyelid morphology	10804	GJB6	ORPHA:477
HP:0000492	Abnormal eyelid morphology	6720	SREBF1	OMIM:619016
HP:0000492	Abnormal eyelid morphology	3211	HOXB1	OMIM:614744
HP:0000492	Abnormal eyelid morphology	55768	NGLY1	ORPHA:404454
HP:0000492	Abnormal eyelid morphology	9427	ECEL1	OMIM:615065
HP:0000492	Abnormal eyelid morphology	6452	SH3BP2	OMIM:118400
HP:0000492	Abnormal eyelid morphology	55621	TRMT1	OMIM:618302
HP:0000492	Abnormal eyelid morphology	388662	SLC6A17	ORPHA:457212
HP:0000492	Abnormal eyelid morphology	388662	SLC6A17	OMIM:616269
HP:0000492	Abnormal eyelid morphology	5238	PGM3	ORPHA:443811
HP:0000492	Abnormal eyelid morphology	55165	CEP55	OMIM:236500
HP:0000492	Abnormal eyelid morphology	118924	FRA10AC1	OMIM:620113
HP:0000492	Abnormal eyelid morphology	26153	KIF26A	OMIM:620156
HP:0000492	Abnormal eyelid morphology	2556	GABRA3	OMIM:301091
HP:0000492	Abnormal eyelid morphology	9969	MED13	OMIM:618009
HP:0000492	Abnormal eyelid morphology	55714	TENM3	OMIM:615145
HP:0000492	Abnormal eyelid morphology	8550	MAPKAPK5	OMIM:619869
HP:0000492	Abnormal eyelid morphology	57572	DOCK6	OMIM:614219
HP:0000492	Abnormal eyelid morphology	54345	SOX18	OMIM:137940
HP:0000492	Abnormal eyelid morphology	54345	SOX18	OMIM:607823
HP:0000492	Abnormal eyelid morphology	54345	SOX18	ORPHA:69735
HP:0000492	Abnormal eyelid morphology	85358	SHANK3	ORPHA:48652
HP:0000492	Abnormal eyelid morphology	85358	SHANK3	OMIM:606232
HP:0000492	Abnormal eyelid morphology	7045	TGFBI	OMIM:608470
HP:0000492	Abnormal eyelid morphology	284252	KCTD1	ORPHA:2036
HP:0000492	Abnormal eyelid morphology	284252	KCTD1	OMIM:181270
HP:0000492	Abnormal eyelid morphology	9326	ZNHIT3	ORPHA:2836
HP:0000492	Abnormal eyelid morphology	547	KIF1A	ORPHA:2836
HP:0000492	Abnormal eyelid morphology	5828	PEX2	OMIM:614866
HP:0000492	Abnormal eyelid morphology	5457	POU4F1	ORPHA:314647
HP:0000492	Abnormal eyelid morphology	5830	PEX5	OMIM:214110
HP:0000492	Abnormal eyelid morphology	83550	GPR101	ORPHA:963
HP:0000492	Abnormal eyelid morphology	9049	AIP	ORPHA:963
HP:0000492	Abnormal eyelid morphology	5293	PIK3CD	ORPHA:221139
HP:0000492	Abnormal eyelid morphology	90417	KNSTRN	ORPHA:221139
HP:0000492	Abnormal eyelid morphology	22947	DUX4L1	ORPHA:269
HP:0000492	Abnormal eyelid morphology	1789	DNMT3B	ORPHA:269
HP:0000492	Abnormal eyelid morphology	2483	FRG1	ORPHA:269
HP:0000492	Abnormal eyelid morphology	23347	SMCHD1	ORPHA:269
HP:0000492	Abnormal eyelid morphology	100288687	DUX4	ORPHA:269
HP:0000492	Abnormal eyelid morphology	7512	XPNPEP2	ORPHA:100057
HP:0000492	Abnormal eyelid morphology	84168	ANTXR1	ORPHA:2067
HP:0000492	Abnormal eyelid morphology	5723	PSPH	ORPHA:79350
HP:0000492	Abnormal eyelid morphology	79158	GNPTAB	OMIM:252500
HP:0000492	Abnormal eyelid morphology	55343	SLC35C1	ORPHA:99843
HP:0000492	Abnormal eyelid morphology	55691	FRMD4A	ORPHA:466688
HP:0000492	Abnormal eyelid morphology	4010	LMX1B	ORPHA:495818
HP:0000492	Abnormal eyelid morphology	6812	STXBP1	ORPHA:495818
HP:0000492	Abnormal eyelid morphology	58508	KMT2C	ORPHA:261652
HP:0000492	Abnormal eyelid morphology	79574	EPS8L3	ORPHA:444
HP:0000492	Abnormal eyelid morphology	6144	RPL21	OMIM:615885
HP:0000492	Abnormal eyelid morphology	6635	SNRPE	OMIM:615059
HP:0000492	Abnormal eyelid morphology	55612	FERMT1	OMIM:173650
HP:0000492	Abnormal eyelid morphology	3909	LAMA3	OMIM:245660
HP:0000492	Abnormal eyelid morphology	4921	DDR2	OMIM:618175
HP:0000492	Abnormal eyelid morphology	8882	ZPR1	OMIM:619321
HP:0000492	Abnormal eyelid morphology	7390	UROS	ORPHA:79277
HP:0000492	Abnormal eyelid morphology	2623	GATA1	ORPHA:79277
HP:0000492	Abnormal eyelid morphology	7389	UROD	ORPHA:95159
HP:0000286	Epicanthus	1718	DHCR24	OMIM:602398
HP:0000286	Epicanthus	1718	DHCR24	ORPHA:35107
HP:0000286	Epicanthus	8036	SHOC2	OMIM:607721
HP:0000286	Epicanthus	8036	SHOC2	ORPHA:2701
HP:0000286	Epicanthus	11253	MAN1B1	ORPHA:397941
HP:0000286	Epicanthus	26235	FBXL4	OMIM:615471
HP:0000286	Epicanthus	8367	H4C5	OMIM:619950
HP:0000286	Epicanthus	1139	CHRNA7	ORPHA:199318
HP:0000286	Epicanthus	23019	CNOT1	OMIM:618500
HP:0000286	Epicanthus	8216	LZTR1	OMIM:616564
HP:0000286	Epicanthus	8216	LZTR1	OMIM:605275
HP:0000286	Epicanthus	5728	PTEN	OMIM:605309
HP:0000286	Epicanthus	23135	KDM6B	OMIM:618505
HP:0000286	Epicanthus	6659	SOX4	OMIM:618506
HP:0000286	Epicanthus	6016	RIT1	OMIM:615355
HP:0000286	Epicanthus	4204	MECP2	ORPHA:1762
HP:0000286	Epicanthus	4204	MECP2	OMIM:300260
HP:0000286	Epicanthus	51126	NAA20	OMIM:619717
HP:0000286	Epicanthus	6228	RPS23	OMIM:617412
HP:0000286	Epicanthus	55627	SMPD4	OMIM:618622
HP:0000286	Epicanthus	7360	UGP2	OMIM:618744
HP:0000286	Epicanthus	81857	MED25	OMIM:616449
HP:0000286	Epicanthus	81857	MED25	ORPHA:464738
HP:0000286	Epicanthus	84942	WDR73	OMIM:251300
HP:0000286	Epicanthus	5830	PEX5	OMIM:214110
HP:0000286	Epicanthus	5830	PEX5	OMIM:202370
HP:0000286	Epicanthus	5830	PEX5	ORPHA:912
HP:0000286	Epicanthus	51	ACOX1	ORPHA:2971
HP:0000286	Epicanthus	1836	SLC26A2	ORPHA:56304
HP:0000286	Epicanthus	79848	CSPP1	ORPHA:397715
HP:0000286	Epicanthus	9786	KIAA0586	ORPHA:397715
HP:0000286	Epicanthus	3020	H3-3A	OMIM:619720
HP:0000286	Epicanthus	80816	ASXL3	OMIM:615485
HP:0000286	Epicanthus	51741	WWOX	OMIM:616211
HP:0000286	Epicanthus	283489	CHAMP1	OMIM:616579
HP:0000286	Epicanthus	51111	KMT5B	OMIM:617788
HP:0000286	Epicanthus	2624	GATA2	OMIM:614038
HP:0000286	Epicanthus	79639	TMEM53	OMIM:619727
HP:0000286	Epicanthus	65082	VPS33A	OMIM:617303
HP:0000286	Epicanthus	65082	VPS33A	ORPHA:505248
HP:0000286	Epicanthus	129563	DIS3L2	ORPHA:2849
HP:0000286	Epicanthus	10084	PQBP1	ORPHA:93947
HP:0000286	Epicanthus	10084	PQBP1	OMIM:309500
HP:0000286	Epicanthus	3764	KCNJ8	ORPHA:1517
HP:0000286	Epicanthus	10060	ABCC9	ORPHA:1517
HP:0000286	Epicanthus	10060	ABCC9	OMIM:239850
HP:0000286	Epicanthus	79158	GNPTAB	OMIM:252500
HP:0000286	Epicanthus	79158	GNPTAB	ORPHA:576
HP:0000286	Epicanthus	57539	WDR35	ORPHA:1515
HP:0000286	Epicanthus	57539	WDR35	OMIM:614091
HP:0000286	Epicanthus	57539	WDR35	OMIM:613610
HP:0000286	Epicanthus	57539	WDR35	ORPHA:93271
HP:0000286	Epicanthus	112752	IFT43	ORPHA:1515
HP:0000286	Epicanthus	112752	IFT43	OMIM:617866
HP:0000286	Epicanthus	51098	IFT52	ORPHA:1515
HP:0000286	Epicanthus	55764	IFT122	ORPHA:1515
HP:0000286	Epicanthus	55764	IFT122	OMIM:218330
HP:0000286	Epicanthus	57728	WDR19	ORPHA:1515
HP:0000286	Epicanthus	57728	WDR19	OMIM:614378
HP:0000286	Epicanthus	55636	CHD7	ORPHA:138
HP:0000286	Epicanthus	9723	SEMA3E	ORPHA:138
HP:0000286	Epicanthus	5189	PEX1	OMIM:214100
HP:0000286	Epicanthus	5189	PEX1	OMIM:601539
HP:0000286	Epicanthus	5189	PEX1	ORPHA:912
HP:0000286	Epicanthus	29957	SLC25A24	ORPHA:2963
HP:0000286	Epicanthus	6023	RMRP	ORPHA:175
HP:0000286	Epicanthus	57589	RIC1	OMIM:618761
HP:0000286	Epicanthus	284058	KANSL1	ORPHA:363958
HP:0000286	Epicanthus	284058	KANSL1	OMIM:610443
HP:0000286	Epicanthus	284058	KANSL1	ORPHA:363965
HP:0000286	Epicanthus	54453	RIN2	OMIM:613075
HP:0000286	Epicanthus	9692	PRORP	OMIM:619737
HP:0000286	Epicanthus	815	CAMK2A	OMIM:617798
HP:0000286	Epicanthus	23545	ATP6V0A2	ORPHA:2834
HP:0000286	Epicanthus	23545	ATP6V0A2	OMIM:278250
HP:0000286	Epicanthus	4853	NOTCH2	OMIM:102500
HP:0000286	Epicanthus	10381	TUBB3	ORPHA:300570
HP:0000286	Epicanthus	7994	KAT6A	ORPHA:457193
HP:0000286	Epicanthus	7994	KAT6A	OMIM:616268
HP:0000286	Epicanthus	9326	ZNHIT3	ORPHA:2836
HP:0000286	Epicanthus	9326	ZNHIT3	OMIM:260565
HP:0000286	Epicanthus	547	KIF1A	ORPHA:2836
HP:0000286	Epicanthus	64359	NXN	ORPHA:1507
HP:0000286	Epicanthus	4920	ROR2	ORPHA:1507
HP:0000286	Epicanthus	2697	GJA1	ORPHA:2710
HP:0000286	Epicanthus	2697	GJA1	OMIM:164200
HP:0000286	Epicanthus	2697	GJA1	OMIM:257850
HP:0000286	Epicanthus	2626	GATA4	ORPHA:251071
HP:0000286	Epicanthus	1277	COL1A1	ORPHA:287
HP:0000286	Epicanthus	1277	COL1A1	ORPHA:1899
HP:0000286	Epicanthus	1289	COL5A1	ORPHA:287
HP:0000286	Epicanthus	1289	COL5A1	OMIM:130000
HP:0000286	Epicanthus	1290	COL5A2	ORPHA:287
HP:0000286	Epicanthus	1290	COL5A2	OMIM:130010
HP:0000286	Epicanthus	9401	RECQL4	OMIM:218600
HP:0000286	Epicanthus	9401	RECQL4	OMIM:268400
HP:0000286	Epicanthus	9401	RECQL4	ORPHA:1225
HP:0000286	Epicanthus	6872	TAF1	ORPHA:480907
HP:0000286	Epicanthus	1281	COL3A1	ORPHA:286
HP:0000286	Epicanthus	10087	CERT1	OMIM:616351
HP:0000286	Epicanthus	8726	EED	OMIM:617561
HP:0000286	Epicanthus	10815	CPLX1	ORPHA:280
HP:0000286	Epicanthus	10815	CPLX1	OMIM:194190
HP:0000286	Epicanthus	54872	PIGG	ORPHA:280
HP:0000286	Epicanthus	7469	NELFA	ORPHA:280
HP:0000286	Epicanthus	1487	CTBP1	ORPHA:280
HP:0000286	Epicanthus	1487	CTBP1	OMIM:194190
HP:0000286	Epicanthus	3954	LETM1	ORPHA:280
HP:0000286	Epicanthus	3954	LETM1	OMIM:194190
HP:0000286	Epicanthus	7468	NSD2	ORPHA:280
HP:0000286	Epicanthus	7468	NSD2	OMIM:619695
HP:0000286	Epicanthus	7468	NSD2	OMIM:194190
HP:0000286	Epicanthus	4763	NF1	ORPHA:363700
HP:0000286	Epicanthus	4763	NF1	OMIM:193520
HP:0000286	Epicanthus	4763	NF1	OMIM:601321
HP:0000286	Epicanthus	22884	WDR37	OMIM:618652
HP:0000286	Epicanthus	1656	DDX6	OMIM:618653
HP:0000286	Epicanthus	1501	CTNND2	ORPHA:281
HP:0000286	Epicanthus	9037	SEMA5A	ORPHA:281
HP:0000286	Epicanthus	5442	POLRMT	OMIM:619743
HP:0000286	Epicanthus	4297	KMT2A	ORPHA:319182
HP:0000286	Epicanthus	4297	KMT2A	OMIM:605130
HP:0000286	Epicanthus	57231	SNX14	OMIM:616354
HP:0000286	Epicanthus	80776	B9D2	OMIM:614175
HP:0000286	Epicanthus	57178	ZMIZ1	OMIM:618659
HP:0000286	Epicanthus	5500	PPP1CB	ORPHA:2701
HP:0000286	Epicanthus	5500	PPP1CB	OMIM:617506
HP:0000286	Epicanthus	5813	PURA	ORPHA:438216
HP:0000286	Epicanthus	3340	NDST1	OMIM:616116
HP:0000286	Epicanthus	55012	PPP2R3C	OMIM:618419
HP:0000286	Epicanthus	93627	TBCK	ORPHA:488632
HP:0000286	Epicanthus	93627	TBCK	OMIM:616900
HP:0000286	Epicanthus	200734	SPRED2	OMIM:619745
HP:0000286	Epicanthus	89910	UBE3B	ORPHA:2707
HP:0000286	Epicanthus	89910	UBE3B	OMIM:244450
HP:0000286	Epicanthus	55623	THUMPD1	OMIM:619989
HP:0000286	Epicanthus	8642	DCHS1	OMIM:601390
HP:0000286	Epicanthus	8642	DCHS1	ORPHA:314679
HP:0000286	Epicanthus	54345	SOX18	OMIM:137940
HP:0000286	Epicanthus	1789	DNMT3B	OMIM:242860
HP:0000286	Epicanthus	1789	DNMT3B	ORPHA:2268
HP:0000286	Epicanthus	3981	LIG4	ORPHA:235
HP:0000286	Epicanthus	3981	LIG4	ORPHA:99812
HP:0000286	Epicanthus	3981	LIG4	OMIM:606593
HP:0000286	Epicanthus	54888	NSUN2	ORPHA:235
HP:0000286	Epicanthus	1186	CLCN7	OMIM:618541
HP:0000286	Epicanthus	23312	DMXL2	OMIM:618663
HP:0000286	Epicanthus	26038	CHD5	OMIM:619873
HP:0000286	Epicanthus	1182	CLCN3	OMIM:619512
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:114300
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:108145
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:248700
HP:0000286	Epicanthus	23461	ABCA5	OMIM:135400
HP:0000286	Epicanthus	54914	FOCAD	OMIM:619991
HP:0000286	Epicanthus	8558	CDK10	OMIM:617694
HP:0000286	Epicanthus	79633	FAT4	OMIM:616006
HP:0000286	Epicanthus	79633	FAT4	ORPHA:314679
HP:0000286	Epicanthus	79633	FAT4	ORPHA:2136
HP:0000286	Epicanthus	79633	FAT4	OMIM:615546
HP:0000286	Epicanthus	9841	ZBTB24	OMIM:614069
HP:0000286	Epicanthus	9841	ZBTB24	ORPHA:2268
HP:0000286	Epicanthus	3098	HK1	OMIM:618547
HP:0000286	Epicanthus	5979	RET	ORPHA:1848
HP:0000286	Epicanthus	8516	ITGA8	ORPHA:1848
HP:0000286	Epicanthus	26281	FGF20	ORPHA:1848
HP:0000286	Epicanthus	2674	GFRA1	ORPHA:1848
HP:0000286	Epicanthus	7484	WNT9B	ORPHA:1848
HP:0000286	Epicanthus	80000	GREB1L	ORPHA:1848
HP:0000286	Epicanthus	5590	PRKCZ	ORPHA:1606
HP:0000286	Epicanthus	2563	GABRD	ORPHA:1606
HP:0000286	Epicanthus	23013	SPEN	ORPHA:1606
HP:0000286	Epicanthus	23013	SPEN	OMIM:619312
HP:0000286	Epicanthus	8510	MMP23B	ORPHA:1606
HP:0000286	Epicanthus	7798	LUZP1	ORPHA:1606
HP:0000286	Epicanthus	6497	SKI	ORPHA:1606
HP:0000286	Epicanthus	10630	PDPN	ORPHA:1606
HP:0000286	Epicanthus	3339	HSPG2	ORPHA:1606
HP:0000286	Epicanthus	10277	UBE4B	ORPHA:1606
HP:0000286	Epicanthus	8514	KCNAB2	ORPHA:1606
HP:0000286	Epicanthus	473	RERE	ORPHA:1606
HP:0000286	Epicanthus	473	RERE	ORPHA:494344
HP:0000286	Epicanthus	473	RERE	OMIM:616975
HP:0000286	Epicanthus	63976	PRDM16	ORPHA:1606
HP:0000286	Epicanthus	54897	CASZ1	ORPHA:1606
HP:0000286	Epicanthus	6899	TBX1	ORPHA:1727
HP:0000286	Epicanthus	6899	TBX1	ORPHA:567
HP:0000286	Epicanthus	6134	RPL10	ORPHA:459070
HP:0000286	Epicanthus	6134	RPL10	OMIM:300998
HP:0000286	Epicanthus	286	ANK1	ORPHA:251066
HP:0000286	Epicanthus	85365	ALG2	ORPHA:79326
HP:0000286	Epicanthus	85365	ALG2	OMIM:607906
HP:0000286	Epicanthus	5605	MAP2K2	OMIM:615280
HP:0000286	Epicanthus	5605	MAP2K2	ORPHA:1340
HP:0000286	Epicanthus	26137	ZBTB20	OMIM:259050
HP:0000286	Epicanthus	54828	BCAS3	OMIM:619641
HP:0000286	Epicanthus	7750	ZMYM2	OMIM:619522
HP:0000286	Epicanthus	56098	PCDHGC4	OMIM:619880
HP:0000286	Epicanthus	7358	UGDH	OMIM:618792
HP:0000286	Epicanthus	53335	BCL11A	OMIM:617101
HP:0000286	Epicanthus	113179	ADAT3	OMIM:615286
HP:0000286	Epicanthus	113179	ADAT3	ORPHA:363528
HP:0000286	Epicanthus	59336	PRDM13	OMIM:619761
HP:0000286	Epicanthus	59336	PRDM13	OMIM:619909
HP:0000286	Epicanthus	6942	TCF20	OMIM:618430
HP:0000286	Epicanthus	9158	FIBP	OMIM:617107
HP:0000286	Epicanthus	9158	FIBP	ORPHA:500095
HP:0000286	Epicanthus	9968	MED12	OMIM:305450
HP:0000286	Epicanthus	9968	MED12	OMIM:300895
HP:0000286	Epicanthus	57492	ARID1B	ORPHA:251056
HP:0000286	Epicanthus	79728	PALB2	OMIM:610832
HP:0000286	Epicanthus	79728	PALB2	ORPHA:84
HP:0000286	Epicanthus	2324	FLT4	ORPHA:79452
HP:0000286	Epicanthus	57165	GJC2	ORPHA:79452
HP:0000286	Epicanthus	5373	PMM2	ORPHA:79318
HP:0000286	Epicanthus	5727	PTCH1	ORPHA:377
HP:0000286	Epicanthus	5727	PTCH1	ORPHA:77301
HP:0000286	Epicanthus	8643	PTCH2	ORPHA:377
HP:0000286	Epicanthus	51684	SUFU	ORPHA:377
HP:0000286	Epicanthus	57724	EPG5	OMIM:242840
HP:0000286	Epicanthus	23556	PIGN	OMIM:614080
HP:0000286	Epicanthus	23556	PIGN	ORPHA:280633
HP:0000286	Epicanthus	7030	TFE3	OMIM:301066
HP:0000286	Epicanthus	2239	GPC4	ORPHA:373
HP:0000286	Epicanthus	2239	GPC4	OMIM:312870
HP:0000286	Epicanthus	2239	GPC4	ORPHA:2662
HP:0000286	Epicanthus	2719	GPC3	ORPHA:373
HP:0000286	Epicanthus	2719	GPC3	OMIM:312870
HP:0000286	Epicanthus	5286	PIK3C2A	OMIM:618440
HP:0000286	Epicanthus	5286	PIK3C2A	ORPHA:557003
HP:0000286	Epicanthus	8565	YARS1	OMIM:619418
HP:0000286	Epicanthus	84168	ANTXR1	OMIM:230740
HP:0000286	Epicanthus	23499	MACF1	OMIM:618325
HP:0000286	Epicanthus	1107	CHD3	OMIM:618205
HP:0000286	Epicanthus	374969	SVBP	OMIM:618569
HP:0000286	Epicanthus	6261	RYR1	ORPHA:324581
HP:0000286	Epicanthus	7476	WNT7A	OMIM:276820
HP:0000286	Epicanthus	51322	WAC	ORPHA:466950
HP:0000286	Epicanthus	404672	GTF2H5	ORPHA:33364
HP:0000286	Epicanthus	833	CARS1	ORPHA:33364
HP:0000286	Epicanthus	2068	ERCC2	ORPHA:33364
HP:0000286	Epicanthus	7737	RNF113A	ORPHA:33364
HP:0000286	Epicanthus	136647	MPLKIP	ORPHA:33364
HP:0000286	Epicanthus	136647	MPLKIP	OMIM:234050
HP:0000286	Epicanthus	6897	TARS1	ORPHA:33364
HP:0000286	Epicanthus	2071	ERCC3	ORPHA:33364
HP:0000286	Epicanthus	2961	GTF2E2	ORPHA:33364
HP:0000286	Epicanthus	79087	ALG12	ORPHA:79324
HP:0000286	Epicanthus	79087	ALG12	OMIM:607143
HP:0000286	Epicanthus	3756	KCNH1	OMIM:611816
HP:0000286	Epicanthus	3756	KCNH1	ORPHA:420561
HP:0000286	Epicanthus	9896	FIG4	OMIM:216340
HP:0000286	Epicanthus	10195	ALG3	OMIM:601110
HP:0000286	Epicanthus	257	ALX3	OMIM:136760
HP:0000286	Epicanthus	257	ALX3	ORPHA:391474
HP:0000286	Epicanthus	6135	RPL11	ORPHA:124
HP:0000286	Epicanthus	6138	RPL15	ORPHA:124
HP:0000286	Epicanthus	6229	RPS24	ORPHA:124
HP:0000286	Epicanthus	6125	RPL5	ORPHA:124
HP:0000286	Epicanthus	6204	RPS10	ORPHA:124
HP:0000286	Epicanthus	6224	RPS20	ORPHA:124
HP:0000286	Epicanthus	6165	RPL35A	ORPHA:124
HP:0000286	Epicanthus	2623	GATA1	ORPHA:124
HP:0000286	Epicanthus	2623	GATA1	OMIM:190685
HP:0000286	Epicanthus	6223	RPS19	ORPHA:124
HP:0000286	Epicanthus	6223	RPS19	OMIM:105650
HP:0000286	Epicanthus	6232	RPS27	ORPHA:124
HP:0000286	Epicanthus	6231	RPS26	ORPHA:124
HP:0000286	Epicanthus	11224	RPL35	ORPHA:124
HP:0000286	Epicanthus	6160	RPL31	ORPHA:124
HP:0000286	Epicanthus	6218	RPS17	ORPHA:124
HP:0000286	Epicanthus	6201	RPS7	ORPHA:124
HP:0000286	Epicanthus	6155	RPL27	ORPHA:124
HP:0000286	Epicanthus	6154	RPL26	ORPHA:124
HP:0000286	Epicanthus	6210	RPS15A	ORPHA:124
HP:0000286	Epicanthus	90121	TSR2	ORPHA:124
HP:0000286	Epicanthus	6141	RPL18	ORPHA:124
HP:0000286	Epicanthus	6235	RPS29	ORPHA:124
HP:0000286	Epicanthus	6234	RPS28	ORPHA:124
HP:0000286	Epicanthus	6234	RPS28	OMIM:606164
HP:0000286	Epicanthus	51816	ADA2	ORPHA:124
HP:0000286	Epicanthus	117581	TWIST2	ORPHA:1807
HP:0000286	Epicanthus	117581	TWIST2	OMIM:227260
HP:0000286	Epicanthus	3845	KRAS	OMIM:600268
HP:0000286	Epicanthus	3845	KRAS	ORPHA:3339
HP:0000286	Epicanthus	3845	KRAS	ORPHA:1340
HP:0000286	Epicanthus	3845	KRAS	OMIM:609942
HP:0000286	Epicanthus	1387	CREBBP	OMIM:618332
HP:0000286	Epicanthus	1387	CREBBP	OMIM:180849
HP:0000286	Epicanthus	2033	EP300	OMIM:618333
HP:0000286	Epicanthus	2033	EP300	OMIM:180849
HP:0000286	Epicanthus	2033	EP300	OMIM:613684
HP:0000286	Epicanthus	8295	TRRAP	OMIM:618454
HP:0000286	Epicanthus	1917	EEF1A2	OMIM:616393
HP:0000286	Epicanthus	9742	IFT140	OMIM:266920
HP:0000286	Epicanthus	8621	CDK13	OMIM:617360
HP:0000286	Epicanthus	26173	INTS1	OMIM:618571
HP:0000286	Epicanthus	51117	COQ4	OMIM:616276
HP:0000286	Epicanthus	1642	DDB1	OMIM:619426
HP:0000286	Epicanthus	164	AP1G1	OMIM:619548
HP:0000286	Epicanthus	6857	SYT1	OMIM:618218
HP:0000286	Epicanthus	6857	SYT1	ORPHA:522077
HP:0000286	Epicanthus	6654	SOS1	OMIM:610733
HP:0000286	Epicanthus	1801	DPH1	ORPHA:459061
HP:0000286	Epicanthus	1801	DPH1	OMIM:616901
HP:0000286	Epicanthus	389827	MYMK	OMIM:254940
HP:0000286	Epicanthus	389827	MYMK	ORPHA:1358
HP:0000286	Epicanthus	6929	TCF3	ORPHA:33110
HP:0000286	Epicanthus	973	CD79A	ORPHA:33110
HP:0000286	Epicanthus	974	CD79B	ORPHA:33110
HP:0000286	Epicanthus	3543	IGLL1	ORPHA:33110
HP:0000286	Epicanthus	3507	IGHM	ORPHA:33110
HP:0000286	Epicanthus	29760	BLNK	ORPHA:33110
HP:0000286	Epicanthus	5295	PIK3R1	ORPHA:33110
HP:0000286	Epicanthus	56262	LRRC8A	ORPHA:33110
HP:0000286	Epicanthus	56262	LRRC8A	OMIM:613506
HP:0000286	Epicanthus	7291	TWIST1	ORPHA:794
HP:0000286	Epicanthus	2263	FGFR2	ORPHA:794
HP:0000286	Epicanthus	2261	FGFR3	ORPHA:794
HP:0000286	Epicanthus	84706	GPT2	OMIM:616281
HP:0000286	Epicanthus	5898	RALA	OMIM:619311
HP:0000286	Epicanthus	6909	TBX2	OMIM:618223
HP:0000286	Epicanthus	5351	PLOD1	OMIM:225400
HP:0000286	Epicanthus	6477	SIAH1	OMIM:619314
HP:0000286	Epicanthus	54517	PUS7	OMIM:618342
HP:0000286	Epicanthus	57102	C12orf4	OMIM:618221
HP:0000286	Epicanthus	8573	CASK	OMIM:300749
HP:0000286	Epicanthus	10785	WDR4	OMIM:618347
HP:0000286	Epicanthus	55628	ZNF407	OMIM:619557
HP:0000286	Epicanthus	56623	INPP5E	OMIM:213300
HP:0000286	Epicanthus	50814	NSDHL	ORPHA:251383
HP:0000286	Epicanthus	50814	NSDHL	OMIM:300831
HP:0000286	Epicanthus	128869	PIGU	OMIM:618590
HP:0000286	Epicanthus	5575	PRKAR1B	OMIM:619680
HP:0000286	Epicanthus	7707	ZNF148	OMIM:617260
HP:0000286	Epicanthus	5515	PPP2CA	OMIM:618354
HP:0000286	Epicanthus	26275	HIBCH	ORPHA:88639
HP:0000286	Epicanthus	26275	HIBCH	OMIM:250620
HP:0000286	Epicanthus	650	BMP2	ORPHA:261295
HP:0000286	Epicanthus	1436	CSF1R	OMIM:618476
HP:0000286	Epicanthus	29998	BICRA	OMIM:619325
HP:0000286	Epicanthus	6651	SON	OMIM:617140
HP:0000286	Epicanthus	6651	SON	ORPHA:500150
HP:0000286	Epicanthus	388015	RTL1	ORPHA:254528
HP:0000286	Epicanthus	388015	RTL1	ORPHA:96334
HP:0000286	Epicanthus	8788	DLK1	ORPHA:254528
HP:0000286	Epicanthus	8788	DLK1	ORPHA:96334
HP:0000286	Epicanthus	55384	MEG3	ORPHA:254528
HP:0000286	Epicanthus	55384	MEG3	ORPHA:96334
HP:0000286	Epicanthus	57520	HECW2	OMIM:617268
HP:0000286	Epicanthus	5980	REV3L	ORPHA:570
HP:0000286	Epicanthus	23129	PLXND1	ORPHA:570
HP:0000286	Epicanthus	3039	HBA1	ORPHA:98791
HP:0000286	Epicanthus	3040	HBA2	ORPHA:98791
HP:0000286	Epicanthus	4621	MYH3	OMIM:193700
HP:0000286	Epicanthus	4621	MYH3	ORPHA:2990
HP:0000286	Epicanthus	23221	RHOBTB2	OMIM:618004
HP:0000286	Epicanthus	2334	AFF2	OMIM:309548
HP:0000286	Epicanthus	2334	AFF2	ORPHA:100973
HP:0000286	Epicanthus	4141	MARS1	OMIM:619692
HP:0000286	Epicanthus	4125	MAN2B1	OMIM:248500
HP:0000286	Epicanthus	54496	PRMT7	OMIM:617157
HP:0000286	Epicanthus	8260	NAA10	OMIM:300855
HP:0000286	Epicanthus	2316	FLNA	ORPHA:88630
HP:0000286	Epicanthus	2316	FLNA	OMIM:300244
HP:0000286	Epicanthus	10082	GPC6	OMIM:258315
HP:0000286	Epicanthus	1108	CHD4	OMIM:617159
HP:0000286	Epicanthus	2260	FGFR1	OMIM:190440
HP:0000286	Epicanthus	2260	FGFR1	OMIM:615465
HP:0000286	Epicanthus	9719	ADAMTSL2	ORPHA:1901
HP:0000286	Epicanthus	9509	ADAMTS2	ORPHA:1901
HP:0000286	Epicanthus	9509	ADAMTS2	OMIM:225410
HP:0000286	Epicanthus	23389	MED13L	ORPHA:369891
HP:0000286	Epicanthus	1312	COMT	ORPHA:567
HP:0000286	Epicanthus	221037	JMJD1C	ORPHA:567
HP:0000286	Epicanthus	2812	GP1BB	ORPHA:567
HP:0000286	Epicanthus	6239	RREB1	ORPHA:567
HP:0000286	Epicanthus	7290	HIRA	ORPHA:567
HP:0000286	Epicanthus	9632	SEC24C	ORPHA:567
HP:0000286	Epicanthus	7353	UFD1	ORPHA:567
HP:0000286	Epicanthus	421	ARVCF	ORPHA:567
HP:0000286	Epicanthus	22827	PUF60	ORPHA:508488
HP:0000286	Epicanthus	3265	HRAS	ORPHA:3071
HP:0000286	Epicanthus	3265	HRAS	OMIM:218040
HP:0000286	Epicanthus	23111	SPART	ORPHA:101000
HP:0000286	Epicanthus	25942	SIN3A	ORPHA:94065
HP:0000286	Epicanthus	25942	SIN3A	OMIM:613406
HP:0000286	Epicanthus	9496	TBX4	ORPHA:261279
HP:0000286	Epicanthus	1822	ATN1	OMIM:618494
HP:0000286	Epicanthus	7403	KDM6A	OMIM:300867
HP:0000286	Epicanthus	3188	HNRNPH2	OMIM:300986
HP:0000286	Epicanthus	4613	MYCN	OMIM:164280
HP:0000286	Epicanthus	5573	PRKAR1A	OMIM:101800
HP:0000286	Epicanthus	5573	PRKAR1A	ORPHA:950
HP:0000286	Epicanthus	9343	EFTUD2	OMIM:610536
HP:0000286	Epicanthus	9343	EFTUD2	ORPHA:79113
HP:0000286	Epicanthus	11285	B4GALT7	ORPHA:75496
HP:0000286	Epicanthus	9851	KIAA0753	OMIM:619476
HP:0000286	Epicanthus	9851	KIAA0753	ORPHA:2754
HP:0000286	Epicanthus	2290	FOXG1	ORPHA:261144
HP:0000286	Epicanthus	57003	CCDC47	OMIM:618268
HP:0000286	Epicanthus	65250	CPLANE1	OMIM:277170
HP:0000286	Epicanthus	65250	CPLANE1	ORPHA:2754
HP:0000286	Epicanthus	134218	DNAJC21	OMIM:617052
HP:0000286	Epicanthus	5977	DPF2	OMIM:618027
HP:0000286	Epicanthus	10847	SRCAP	OMIM:619595
HP:0000286	Epicanthus	79005	SCNM1	OMIM:620107
HP:0000286	Epicanthus	526	ATP6V1B2	ORPHA:79500
HP:0000286	Epicanthus	57465	TBC1D24	ORPHA:79500
HP:0000286	Epicanthus	57465	TBC1D24	OMIM:220500
HP:0000286	Epicanthus	2132	EXT2	ORPHA:52022
HP:0000286	Epicanthus	60529	ALX4	ORPHA:52022
HP:0000286	Epicanthus	51317	PHF21A	ORPHA:52022
HP:0000286	Epicanthus	11198	SUPT16H	OMIM:619480
HP:0000286	Epicanthus	1457	CSNK2A1	OMIM:617062
HP:0000286	Epicanthus	7204	TRIO	OMIM:617061
HP:0000286	Epicanthus	7204	TRIO	ORPHA:476126
HP:0000286	Epicanthus	5290	PIK3CA	OMIM:602501
HP:0000286	Epicanthus	2222	FDFT1	OMIM:618156
HP:0000286	Epicanthus	203068	TUBB	OMIM:156610
HP:0000286	Epicanthus	203068	TUBB	ORPHA:2505
HP:0000286	Epicanthus	8567	MADD	OMIM:619004
HP:0000286	Epicanthus	51715	RAB23	OMIM:201000
HP:0000286	Epicanthus	57477	SHROOM4	ORPHA:85288
HP:0000286	Epicanthus	10220	GDF11	OMIM:619122
HP:0000286	Epicanthus	226	ALDOA	OMIM:611881
HP:0000286	Epicanthus	8450	CUL4B	ORPHA:85293
HP:0000286	Epicanthus	93587	TRMT10A	ORPHA:391408
HP:0000286	Epicanthus	84919	PPP1R15B	ORPHA:391408
HP:0000286	Epicanthus	84919	PPP1R15B	OMIM:616817
HP:0000286	Epicanthus	673	BRAF	OMIM:613706
HP:0000286	Epicanthus	673	BRAF	OMIM:115150
HP:0000286	Epicanthus	673	BRAF	ORPHA:1340
HP:0000286	Epicanthus	673	BRAF	OMIM:163950
HP:0000286	Epicanthus	55252	ASXL2	OMIM:617190
HP:0000286	Epicanthus	3090	HIC1	ORPHA:531
HP:0000286	Epicanthus	5048	PAFAH1B1	ORPHA:531
HP:0000286	Epicanthus	7531	YWHAE	ORPHA:531
HP:0000286	Epicanthus	80267	EDEM3	OMIM:619493
HP:0000286	Epicanthus	2176	FANCC	OMIM:227645
HP:0000286	Epicanthus	2176	FANCC	ORPHA:84
HP:0000286	Epicanthus	23154	NCDN	OMIM:619373
HP:0000286	Epicanthus	84231	TRAF7	OMIM:618164
HP:0000286	Epicanthus	1984	EIF5A	OMIM:619376
HP:0000286	Epicanthus	89970	RSPRY1	ORPHA:457395
HP:0000286	Epicanthus	89970	RSPRY1	OMIM:616723
HP:0000286	Epicanthus	9487	PIGL	OMIM:280000
HP:0000286	Epicanthus	9487	PIGL	ORPHA:247262
HP:0000286	Epicanthus	9487	PIGL	ORPHA:3474
HP:0000286	Epicanthus	8481	OFD1	OMIM:300804
HP:0000286	Epicanthus	8481	OFD1	OMIM:311200
HP:0000286	Epicanthus	8481	OFD1	ORPHA:2750
HP:0000286	Epicanthus	8481	OFD1	ORPHA:2754
HP:0000286	Epicanthus	51594	NBAS	OMIM:614800
HP:0000286	Epicanthus	54187	NANS	OMIM:610442
HP:0000286	Epicanthus	3295	HSD17B4	OMIM:261515
HP:0000286	Epicanthus	10020	GNE	ORPHA:3166
HP:0000286	Epicanthus	10020	GNE	OMIM:269921
HP:0000286	Epicanthus	10079	ATP9A	OMIM:620242
HP:0000286	Epicanthus	7474	WNT5A	OMIM:180700
HP:0000286	Epicanthus	7474	WNT5A	ORPHA:3107
HP:0000286	Epicanthus	1855	DVL1	OMIM:180700
HP:0000286	Epicanthus	1855	DVL1	ORPHA:3107
HP:0000286	Epicanthus	1795	DOCK3	OMIM:618292
HP:0000286	Epicanthus	11011	TLK2	OMIM:618050
HP:0000286	Epicanthus	129285	PPP1R21	OMIM:619383
HP:0000286	Epicanthus	114034	TOE1	ORPHA:284339
HP:0000286	Epicanthus	114034	TOE1	OMIM:614969
HP:0000286	Epicanthus	9562	MINPP1	ORPHA:284339
HP:0000286	Epicanthus	51626	DYNC2LI1	OMIM:617088
HP:0000286	Epicanthus	27161	AGO2	OMIM:619149
HP:0000286	Epicanthus	4921	DDR2	OMIM:618175
HP:0000286	Epicanthus	221927	BRAT1	OMIM:618056
HP:0000286	Epicanthus	168667	BMPER	OMIM:608022
HP:0000286	Epicanthus	5144	PDE4D	ORPHA:950
HP:0000286	Epicanthus	7337	UBE3A	ORPHA:238446
HP:0000286	Epicanthus	6309	SC5D	ORPHA:46059
HP:0000286	Epicanthus	6309	SC5D	OMIM:607330
HP:0000286	Epicanthus	8506	CNTNAP1	OMIM:618186
HP:0000286	Epicanthus	5393	EXOSC9	OMIM:618065
HP:0000286	Epicanthus	161742	SPRED1	OMIM:611431
HP:0000286	Epicanthus	5894	RAF1	OMIM:611554
HP:0000286	Epicanthus	5894	RAF1	OMIM:611553
HP:0000286	Epicanthus	7518	XRCC4	ORPHA:99812
HP:0000286	Epicanthus	4784	NFIX	ORPHA:447980
HP:0000286	Epicanthus	55112	DYNC2I1	ORPHA:93271
HP:0000286	Epicanthus	57560	IFT80	ORPHA:93271
HP:0000286	Epicanthus	79659	DYNC2H1	ORPHA:93271
HP:0000286	Epicanthus	89891	DYNC2I2	ORPHA:93271
HP:0000286	Epicanthus	374654	KIF7	OMIM:200990
HP:0000286	Epicanthus	374654	KIF7	ORPHA:2754
HP:0000286	Epicanthus	51506	UFC1	OMIM:618076
HP:0000286	Epicanthus	55788	LMBRD1	OMIM:277380
HP:0000286	Epicanthus	6662	SOX9	OMIM:114290
HP:0000286	Epicanthus	1717	DHCR7	ORPHA:818
HP:0000286	Epicanthus	1717	DHCR7	OMIM:270400
HP:0000286	Epicanthus	25782	RAB3GAP2	OMIM:212720
HP:0000286	Epicanthus	10472	ZBTB18	ORPHA:36367
HP:0000286	Epicanthus	10472	ZBTB18	OMIM:612337
HP:0000286	Epicanthus	10225	CD96	OMIM:211750
HP:0000286	Epicanthus	10225	CD96	ORPHA:1308
HP:0000286	Epicanthus	6595	SMARCA2	OMIM:619293
HP:0000286	Epicanthus	1146	CHRNG	OMIM:265000
HP:0000286	Epicanthus	1146	CHRNG	OMIM:253290
HP:0000286	Epicanthus	1146	CHRNG	ORPHA:2990
HP:0000286	Epicanthus	1301	COL11A1	OMIM:154780
HP:0000286	Epicanthus	84992	PIGY	ORPHA:247262
HP:0000286	Epicanthus	84720	PIGO	ORPHA:247262
HP:0000286	Epicanthus	93210	PGAP3	ORPHA:247262
HP:0000286	Epicanthus	284098	PIGW	ORPHA:247262
HP:0000286	Epicanthus	27315	PGAP2	ORPHA:247262
HP:0000286	Epicanthus	55650	PIGV	ORPHA:247262
HP:0000286	Epicanthus	28958	COA3	OMIM:619058
HP:0000286	Epicanthus	9739	SETD1A	OMIM:619056
HP:0000286	Epicanthus	7490	WT1	OMIM:194080
HP:0000286	Epicanthus	672	BRCA1	ORPHA:84
HP:0000286	Epicanthus	672	BRCA1	OMIM:617883
HP:0000286	Epicanthus	10459	MAD2L2	ORPHA:84
HP:0000286	Epicanthus	7516	XRCC2	ORPHA:84
HP:0000286	Epicanthus	29089	UBE2T	ORPHA:84
HP:0000286	Epicanthus	675	BRCA2	ORPHA:84
HP:0000286	Epicanthus	55120	FANCL	ORPHA:84
HP:0000286	Epicanthus	2177	FANCD2	ORPHA:84
HP:0000286	Epicanthus	2175	FANCA	ORPHA:84
HP:0000286	Epicanthus	2187	FANCB	ORPHA:84
HP:0000286	Epicanthus	2178	FANCE	ORPHA:84
HP:0000286	Epicanthus	2188	FANCF	ORPHA:84
HP:0000286	Epicanthus	2189	FANCG	ORPHA:84
HP:0000286	Epicanthus	5888	RAD51	ORPHA:84
HP:0000286	Epicanthus	5889	RAD51C	ORPHA:84
HP:0000286	Epicanthus	55159	RFWD3	ORPHA:84
HP:0000286	Epicanthus	83990	BRIP1	ORPHA:84
HP:0000286	Epicanthus	57697	FANCM	ORPHA:84
HP:0000286	Epicanthus	84464	SLX4	ORPHA:84
HP:0000286	Epicanthus	2072	ERCC4	ORPHA:84
HP:0000286	Epicanthus	55215	FANCI	ORPHA:84
HP:0000286	Epicanthus	546	ATRX	ORPHA:847
HP:0000286	Epicanthus	546	ATRX	OMIM:309580
HP:0000286	Epicanthus	546	ATRX	OMIM:301040
HP:0000286	Epicanthus	8546	AP3B1	OMIM:608233
HP:0000286	Epicanthus	9839	ZEB2	ORPHA:261552
HP:0000286	Epicanthus	64919	BCL11B	OMIM:618092
HP:0000286	Epicanthus	9184	BUB3	ORPHA:1052
HP:0000286	Epicanthus	699	BUB1	ORPHA:1052
HP:0000286	Epicanthus	699	BUB1	OMIM:620183
HP:0000286	Epicanthus	9702	CEP57	ORPHA:1052
HP:0000286	Epicanthus	9702	CEP57	OMIM:614114
HP:0000286	Epicanthus	9319	TRIP13	ORPHA:1052
HP:0000286	Epicanthus	701	BUB1B	ORPHA:1052
HP:0000286	Epicanthus	701	BUB1B	OMIM:257300
HP:0000286	Epicanthus	26053	AUTS2	ORPHA:352490
HP:0000286	Epicanthus	26053	AUTS2	OMIM:615834
HP:0000286	Epicanthus	23036	ZNF292	OMIM:619188
HP:0000286	Epicanthus	6885	MAP3K7	OMIM:157800
HP:0000286	Epicanthus	3070	HELLS	ORPHA:2268
HP:0000286	Epicanthus	3070	HELLS	OMIM:616911
HP:0000286	Epicanthus	83879	CDCA7	ORPHA:2268
HP:0000286	Epicanthus	83879	CDCA7	OMIM:616910
HP:0000286	Epicanthus	1954	MEGF8	OMIM:614976
HP:0000286	Epicanthus	84300	UQCC2	OMIM:615824
HP:0000286	Epicanthus	57167	SALL4	ORPHA:959
HP:0000286	Epicanthus	57167	SALL4	OMIM:607323
HP:0000286	Epicanthus	53834	FGFRL1	OMIM:194190
HP:0000286	Epicanthus	10522	DEAF1	OMIM:615828
HP:0000286	Epicanthus	3192	HNRNPU	ORPHA:238769
HP:0000286	Epicanthus	9653	HS2ST1	OMIM:619194
HP:0000286	Epicanthus	10801	SEPTIN9	OMIM:162100
HP:0000286	Epicanthus	7025	NR2F1	ORPHA:401777
HP:0000286	Epicanthus	7025	NR2F1	OMIM:615722
HP:0000286	Epicanthus	51660	MPC1	OMIM:614741
HP:0000286	Epicanthus	1857	DVL3	ORPHA:3107
HP:0000286	Epicanthus	1857	DVL3	OMIM:616894
HP:0000286	Epicanthus	2535	FZD2	ORPHA:3107
HP:0000286	Epicanthus	9508	ADAMTS3	ORPHA:2136
HP:0000286	Epicanthus	147372	CCBE1	ORPHA:2136
HP:0000286	Epicanthus	147372	CCBE1	OMIM:235510
HP:0000286	Epicanthus	10908	PNPLA6	ORPHA:2377
HP:0000286	Epicanthus	6660	SOX5	OMIM:616803
HP:0000286	Epicanthus	5828	PEX2	OMIM:614866
HP:0000286	Epicanthus	5828	PEX2	ORPHA:912
HP:0000286	Epicanthus	6804	STX1A	ORPHA:904
HP:0000286	Epicanthus	7461	CLIP2	ORPHA:904
HP:0000286	Epicanthus	84277	DNAJC30	ORPHA:904
HP:0000286	Epicanthus	8468	FKBP6	ORPHA:904
HP:0000286	Epicanthus	5982	RFC2	ORPHA:904
HP:0000286	Epicanthus	2969	GTF2I	ORPHA:904
HP:0000286	Epicanthus	3984	LIMK1	ORPHA:904
HP:0000286	Epicanthus	9569	GTF2IRD1	ORPHA:904
HP:0000286	Epicanthus	155382	VPS37D	ORPHA:904
HP:0000286	Epicanthus	155368	METTL27	ORPHA:904
HP:0000286	Epicanthus	114049	BUD23	ORPHA:904
HP:0000286	Epicanthus	7458	EIF4H	ORPHA:904
HP:0000286	Epicanthus	84163	GTF2IRD2	ORPHA:904
HP:0000286	Epicanthus	9275	BCL7B	ORPHA:904
HP:0000286	Epicanthus	26608	TBL2	ORPHA:904
HP:0000286	Epicanthus	653361	NCF1	ORPHA:904
HP:0000286	Epicanthus	135886	TMEM270	ORPHA:904
HP:0000286	Epicanthus	51085	MLXIPL	ORPHA:904
HP:0000286	Epicanthus	51085	MLXIPL	OMIM:194050
HP:0000286	Epicanthus	9031	BAZ1B	ORPHA:904
HP:0000286	Epicanthus	2006	ELN	ORPHA:904
HP:0000286	Epicanthus	2006	ELN	OMIM:194050
HP:0000286	Epicanthus	285175	UNC80	OMIM:616801
HP:0000286	Epicanthus	3211	HOXB1	OMIM:614744
HP:0000286	Epicanthus	6329	SCN4A	ORPHA:99735
HP:0000286	Epicanthus	54499	TMCO1	OMIM:213980
HP:0000286	Epicanthus	54499	TMCO1	ORPHA:1394
HP:0000286	Epicanthus	8085	KMT2D	OMIM:620186
HP:0000286	Epicanthus	23137	SMC5	OMIM:620185
HP:0000286	Epicanthus	2255	FGF10	OMIM:620193
HP:0000286	Epicanthus	283209	PGM2L1	OMIM:620191
HP:0000286	Epicanthus	51611	DPH5	OMIM:620070
HP:0000286	Epicanthus	79228	THOC6	ORPHA:363444
HP:0000286	Epicanthus	57459	GATAD2B	ORPHA:363686
HP:0000286	Epicanthus	8050	PDHX	OMIM:245349
HP:0000286	Epicanthus	5594	MAPK1	OMIM:619087
HP:0000286	Epicanthus	10430	TMEM147	OMIM:620075
HP:0000286	Epicanthus	7355	SLC35A2	OMIM:300896
HP:0000286	Epicanthus	10735	STAG2	ORPHA:521258
HP:0000286	Epicanthus	8504	PEX3	OMIM:614882
HP:0000286	Epicanthus	8504	PEX3	ORPHA:912
HP:0000286	Epicanthus	55275	VPS53	OMIM:615851
HP:0000286	Epicanthus	2146	EZH2	OMIM:277590
HP:0000286	Epicanthus	5824	PEX19	OMIM:614886
HP:0000286	Epicanthus	5824	PEX19	ORPHA:912
HP:0000286	Epicanthus	50945	TBX22	ORPHA:921
HP:0000286	Epicanthus	92154	MTSS2	OMIM:620086
HP:0000286	Epicanthus	5631	PRPS1	OMIM:300661
HP:0000286	Epicanthus	171023	ASXL1	OMIM:605039
HP:0000286	Epicanthus	55023	PHIP	ORPHA:589905
HP:0000286	Epicanthus	55023	PHIP	OMIM:617991
HP:0000286	Epicanthus	5781	PTPN11	OMIM:151100
HP:0000286	Epicanthus	5781	PTPN11	OMIM:163950
HP:0000286	Epicanthus	2702	GJA5	OMIM:612474
HP:0000286	Epicanthus	2703	GJA8	OMIM:612474
HP:0000286	Epicanthus	867	CBL	OMIM:613563
HP:0000286	Epicanthus	22907	DHX30	OMIM:617804
HP:0000286	Epicanthus	2245	FGD1	ORPHA:915
HP:0000286	Epicanthus	10664	CTCF	OMIM:615502
HP:0000286	Epicanthus	10664	CTCF	ORPHA:363611
HP:0000286	Epicanthus	1144	CHRND	OMIM:253290
HP:0000286	Epicanthus	1134	CHRNA1	OMIM:253290
HP:0000286	Epicanthus	196528	ARID2	OMIM:617808
HP:0000286	Epicanthus	55670	PEX26	ORPHA:912
HP:0000286	Epicanthus	8799	PEX11B	ORPHA:912
HP:0000286	Epicanthus	9409	PEX16	ORPHA:912
HP:0000286	Epicanthus	5190	PEX6	ORPHA:912
HP:0000286	Epicanthus	5193	PEX12	ORPHA:912
HP:0000286	Epicanthus	5194	PEX13	ORPHA:912
HP:0000286	Epicanthus	5195	PEX14	ORPHA:912
HP:0000286	Epicanthus	5192	PEX10	ORPHA:912
HP:0000286	Epicanthus	3720	JARID2	OMIM:620098
HP:0000286	Epicanthus	26123	TCTN3	OMIM:258860
HP:0000286	Epicanthus	26123	TCTN3	ORPHA:2754
HP:0000286	Epicanthus	84627	ZNF469	OMIM:229200
HP:0000286	Epicanthus	9780	PIEZO1	OMIM:616843
HP:0000286	Epicanthus	4683	NBN	OMIM:251260
HP:0000286	Epicanthus	23394	ADNP	OMIM:615873
HP:0000286	Epicanthus	1788	DNMT3A	OMIM:615879
HP:0000286	Epicanthus	1788	DNMT3A	OMIM:618724
HP:0000286	Epicanthus	65062	TMEM237	OMIM:614424
HP:0000286	Epicanthus	10586	MAB21L2	OMIM:615877
HP:0000286	Epicanthus	85358	SHANK3	OMIM:606232
HP:0000286	Epicanthus	85358	SHANK3	ORPHA:48652
HP:0000286	Epicanthus	5859	QARS1	OMIM:615760
HP:0000286	Epicanthus	4893	NRAS	OMIM:613224
HP:0000286	Epicanthus	169792	GLIS3	OMIM:610199
HP:0000286	Epicanthus	10982	MAPRE2	OMIM:616734
HP:0000286	Epicanthus	10982	MAPRE2	ORPHA:2505
HP:0000286	Epicanthus	55033	FKBP14	OMIM:614557
HP:0000286	Epicanthus	5053	PAH	ORPHA:2209
HP:0000286	Epicanthus	4131	MAP1B	OMIM:618918
HP:0000286	Epicanthus	101929726	MYMX	ORPHA:1358
HP:0000286	Epicanthus	5925	RB1	ORPHA:1587
HP:0000286	Epicanthus	23511	NUP188	OMIM:618804
HP:0000286	Epicanthus	5604	MAP2K1	ORPHA:1340
HP:0000286	Epicanthus	5604	MAP2K1	OMIM:163950
HP:0000286	Epicanthus	64131	XYLT1	OMIM:615777
HP:0000286	Epicanthus	54806	AHI1	OMIM:608629
HP:0000286	Epicanthus	10943	MSL3	OMIM:301032
HP:0000286	Epicanthus	84342	COG8	OMIM:611182
HP:0000286	Epicanthus	79796	ALG9	OMIM:263210
HP:0000286	Epicanthus	57511	COG6	OMIM:614576
HP:0000286	Epicanthus	83696	TRAPPC9	ORPHA:352530
HP:0000286	Epicanthus	4854	NOTCH3	ORPHA:2789
HP:0000286	Epicanthus	7421	VDR	OMIM:277440
HP:0000286	Epicanthus	80781	COL18A1	ORPHA:1571
HP:0000286	Epicanthus	80781	COL18A1	OMIM:267750
HP:0000286	Epicanthus	5062	PAK2	ORPHA:1571
HP:0000286	Epicanthus	139285	AMER1	ORPHA:2780
HP:0000286	Epicanthus	139285	AMER1	OMIM:300373
HP:0000286	Epicanthus	55644	OSGEP	OMIM:617729
HP:0000286	Epicanthus	2313	FLI1	ORPHA:2308
HP:0000286	Epicanthus	9361	LONP1	ORPHA:1458
HP:0000286	Epicanthus	60	ACTB	OMIM:243310
HP:0000286	Epicanthus	60	ACTB	ORPHA:2995
HP:0000286	Epicanthus	6197	RPS6KA3	ORPHA:192
HP:0000286	Epicanthus	6628	SNRPB	OMIM:117650
HP:0000286	Epicanthus	10367	MICU1	OMIM:615673
HP:0000286	Epicanthus	8092	ALX1	ORPHA:306542
HP:0000286	Epicanthus	51002	TPRKB	OMIM:617731
HP:0000286	Epicanthus	4659	PPP1R12A	OMIM:618820
HP:0000286	Epicanthus	4329	ALDH6A1	OMIM:614105
HP:0000286	Epicanthus	8405	SPOP	OMIM:618828
HP:0000286	Epicanthus	4796	TONSL	ORPHA:93357
HP:0000286	Epicanthus	284252	KCTD1	OMIM:181270
HP:0000286	Epicanthus	55617	TASP1	OMIM:618950
HP:0000286	Epicanthus	6182	MRPL12	OMIM:618951
HP:0000286	Epicanthus	3832	KIF11	ORPHA:2526
HP:0000286	Epicanthus	3832	KIF11	OMIM:152950
HP:0000286	Epicanthus	55704	CCDC88A	OMIM:617507
HP:0000286	Epicanthus	6519	SLC3A1	ORPHA:163690
HP:0000286	Epicanthus	9581	PREPL	ORPHA:163690
HP:0000286	Epicanthus	4841	NONO	ORPHA:466791
HP:0000286	Epicanthus	9320	TRIP12	OMIM:617752
HP:0000286	Epicanthus	26503	SLC17A5	OMIM:269920
HP:0000286	Epicanthus	1748	DLX4	OMIM:616788
HP:0000286	Epicanthus	1663	DDX11	OMIM:613398
HP:0000286	Epicanthus	5455	POU3F3	OMIM:618604
HP:0000286	Epicanthus	2186	BPTF	OMIM:617755
HP:0000286	Epicanthus	738	VPS51	OMIM:618606
HP:0000286	Epicanthus	9757	KMT2B	OMIM:619934
HP:0000286	Epicanthus	71	ACTG1	ORPHA:2995
HP:0000286	Epicanthus	10210	TOPORS	ORPHA:2754
HP:0000286	Epicanthus	5147	PDE6D	ORPHA:2754
HP:0000286	Epicanthus	51259	TMEM216	ORPHA:2754
HP:0000286	Epicanthus	317662	FAM149B1	ORPHA:2754
HP:0000286	Epicanthus	5087	PBX1	OMIM:617641
HP:0000286	Epicanthus	6736	SRY	ORPHA:1772
HP:0000286	Epicanthus	84148	KAT8	OMIM:618974
HP:0000286	Epicanthus	8449	DHX16	OMIM:618733
HP:0000286	Epicanthus	58499	ZNF462	OMIM:618619
HP:0000286	Epicanthus	1278	COL1A2	ORPHA:1899
HP:0000286	Epicanthus	668	FOXL2	OMIM:110100
HP:0000286	Epicanthus	668	FOXL2	ORPHA:572333
HP:0000286	Epicanthus	78989	COLEC11	OMIM:265050
HP:0000286	Epicanthus	78989	COLEC11	ORPHA:293843
HP:0000286	Epicanthus	253738	EBF3	OMIM:617330
HP:0000286	Epicanthus	9578	CDC42BPB	OMIM:619841
HP:0000286	Epicanthus	23522	KAT6B	OMIM:603736
HP:0000286	Epicanthus	54903	MKS1	OMIM:249000
HP:0000286	Epicanthus	10584	COLEC10	OMIM:248340
HP:0000286	Epicanthus	10584	COLEC10	ORPHA:293843
HP:0000286	Epicanthus	10736	SIX2	ORPHA:488437
HP:0000286	Epicanthus	5648	MASP1	OMIM:257920
HP:0000286	Epicanthus	5648	MASP1	ORPHA:293843
HP:0000286	Epicanthus	84570	COL25A1	ORPHA:91411
HP:0000286	Epicanthus	79776	ZFHX4	ORPHA:91411
HP:0000286	Epicanthus	10075	HUWE1	OMIM:309590
HP:0000287	Increased facial adipose tissue	4000	LMNA	ORPHA:280365
HP:0000287	Increased facial adipose tissue	4000	LMNA	OMIM:248370
HP:0000287	Increased facial adipose tissue	4000	LMNA	OMIM:151660
HP:0000289	Broad philtrum	4094	MAF	OMIM:601088
HP:0000289	Broad philtrum	2245	FGD1	OMIM:305400
HP:0000289	Broad philtrum	84992	PIGY	ORPHA:247262
HP:0000289	Broad philtrum	84720	PIGO	ORPHA:247262
HP:0000289	Broad philtrum	93210	PGAP3	ORPHA:247262
HP:0000289	Broad philtrum	284098	PIGW	ORPHA:247262
HP:0000289	Broad philtrum	27315	PGAP2	ORPHA:247262
HP:0000289	Broad philtrum	55650	PIGV	ORPHA:247262
HP:0000289	Broad philtrum	9487	PIGL	ORPHA:247262
HP:0000289	Broad philtrum	5977	DPF2	OMIM:618027
HP:0000289	Broad philtrum	5977	DPF2	ORPHA:1465
HP:0000289	Broad philtrum	60529	ALX4	OMIM:613451
HP:0000289	Broad philtrum	60529	ALX4	ORPHA:228390
HP:0000289	Broad philtrum	6711	SPTBN1	OMIM:619475
HP:0000289	Broad philtrum	6597	SMARCA4	ORPHA:1465
HP:0000289	Broad philtrum	6598	SMARCB1	ORPHA:1465
HP:0000289	Broad philtrum	6659	SOX4	ORPHA:1465
HP:0000289	Broad philtrum	8289	ARID1A	ORPHA:1465
HP:0000289	Broad philtrum	6601	SMARCC2	ORPHA:1465
HP:0000289	Broad philtrum	6602	SMARCD1	ORPHA:1465
HP:0000289	Broad philtrum	57492	ARID1B	ORPHA:1465
HP:0000289	Broad philtrum	196528	ARID2	ORPHA:1465
HP:0000289	Broad philtrum	6605	SMARCE1	ORPHA:1465
HP:0000289	Broad philtrum	6664	SOX11	ORPHA:1465
HP:0000289	Broad philtrum	57539	WDR35	OMIM:613610
HP:0000289	Broad philtrum	55107	ANO1	OMIM:620045
HP:0000289	Broad philtrum	8085	KMT2D	OMIM:620186
HP:0000289	Broad philtrum	1009	CDH11	OMIM:211380
HP:0000289	Broad philtrum	6513	SLC2A1	ORPHA:1942
HP:0000289	Broad philtrum	8831	SYNGAP1	ORPHA:1942
HP:0000289	Broad philtrum	1173	AP2M1	ORPHA:1942
HP:0000289	Broad philtrum	6323	SCN1A	ORPHA:1942
HP:0000289	Broad philtrum	340533	NEXMIF	ORPHA:1942
HP:0000289	Broad philtrum	1106	CHD2	ORPHA:1942
HP:0000289	Broad philtrum	6529	SLC6A1	ORPHA:1942
HP:0000289	Broad philtrum	79718	TBL1XR1	OMIM:602342
HP:0000289	Broad philtrum	79718	TBL1XR1	ORPHA:487825
HP:0000289	Broad philtrum	78989	COLEC11	OMIM:265050
HP:0000289	Broad philtrum	6595	SMARCA2	OMIM:601358
HP:0000289	Broad philtrum	3020	H3-3A	OMIM:619720
HP:0000289	Broad philtrum	5881	RAC3	OMIM:618577
HP:0000289	Broad philtrum	57231	SNX14	OMIM:616354
HP:0000289	Broad philtrum	57231	SNX14	ORPHA:397709
HP:0000289	Broad philtrum	51305	KCNK9	ORPHA:166108
HP:0000289	Broad philtrum	54499	TMCO1	ORPHA:1394
HP:0000289	Broad philtrum	55780	ERMARD	ORPHA:75857
HP:0000289	Broad philtrum	58499	ZNF462	OMIM:618619
HP:0007446	Palmoplantar blistering	5317	PKP1	OMIM:604536
HP:0007446	Palmoplantar blistering	1294	COL7A1	ORPHA:79409
HP:0007446	Palmoplantar blistering	1294	COL7A1	ORPHA:79410
HP:0007446	Palmoplantar blistering	3861	KRT14	ORPHA:89838
HP:0007446	Palmoplantar blistering	3861	KRT14	OMIM:131800
HP:0007446	Palmoplantar blistering	3861	KRT14	ORPHA:79400
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619555
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619588
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619594
HP:0007446	Palmoplantar blistering	3852	KRT5	ORPHA:79400
HP:0007446	Palmoplantar blistering	3848	KRT1	ORPHA:530838
HP:0007446	Palmoplantar blistering	3868	KRT16	ORPHA:2309
HP:0007446	Palmoplantar blistering	3872	KRT17	ORPHA:2309
HP:0007446	Palmoplantar blistering	3853	KRT6A	ORPHA:2309
HP:0007446	Palmoplantar blistering	3854	KRT6B	ORPHA:2309
HP:0007446	Palmoplantar blistering	5339	PLEC	ORPHA:79401
HP:0007446	Palmoplantar blistering	1828	DSG1	OMIM:148700
HP:0007448	Hyperkeratosis over edematous areas	2324	FLT4	OMIM:153100
HP:0007449	Confetti-like hypopigmented macules	4221	MEN1	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	4221	MEN1	OMIM:131100
HP:0007449	Confetti-like hypopigmented macules	1027	CDKN1B	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1027	CDKN1B	ORPHA:276152
HP:0007449	Confetti-like hypopigmented macules	1026	CDKN1A	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1030	CDKN2B	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1031	CDKN2C	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	4841	NONO	ORPHA:466791
HP:0007449	Confetti-like hypopigmented macules	3458	IFNG	ORPHA:805
HP:0007449	Confetti-like hypopigmented macules	7248	TSC1	ORPHA:805
HP:0007449	Confetti-like hypopigmented macules	7249	TSC2	ORPHA:805
HP:0030895	Abnormal gastrointestinal motility	54809	SAMD9	OMIM:617053
HP:0030895	Abnormal gastrointestinal motility	2982	GUCY1A1	OMIM:615750
HP:0030895	Abnormal gastrointestinal motility	55699	IARS2	OMIM:616007
HP:0030895	Abnormal gastrointestinal motility	55699	IARS2	ORPHA:436174
HP:0030895	Abnormal gastrointestinal motility	6774	STAT3	OMIM:615952
HP:0030895	Abnormal gastrointestinal motility	10625	IVNS1ABP	OMIM:618969
HP:0030895	Abnormal gastrointestinal motility	29926	GMPPA	OMIM:615510
HP:0030895	Abnormal gastrointestinal motility	29926	GMPPA	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	60684	TRAPPC11	OMIM:615356
HP:0030895	Abnormal gastrointestinal motility	60684	TRAPPC11	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	8086	AAAS	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	8086	AAAS	OMIM:231550
HP:0030895	Abnormal gastrointestinal motility	2717	GLA	ORPHA:324
HP:0030895	Abnormal gastrointestinal motility	60	ACTB	ORPHA:79107
HP:0030895	Abnormal gastrointestinal motility	60	ACTB	OMIM:607371
HP:0030895	Abnormal gastrointestinal motility	4212	MEIS2	OMIM:600987
HP:0030895	Abnormal gastrointestinal motility	28982	FLVCR1	OMIM:609033
HP:0030895	Abnormal gastrointestinal motility	1288	COL4A6	ORPHA:1018
HP:0030895	Abnormal gastrointestinal motility	1287	COL4A5	ORPHA:1018
HP:0030895	Abnormal gastrointestinal motility	6651	SON	ORPHA:500150
HP:0030895	Abnormal gastrointestinal motility	816	CAMK2B	OMIM:617799
HP:0030895	Abnormal gastrointestinal motility	815	CAMK2A	OMIM:617798
HP:0030895	Abnormal gastrointestinal motility	59335	PRDM12	OMIM:616488
HP:0030895	Abnormal gastrointestinal motility	773	CACNA1A	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	6507	SLC1A3	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	477	ATP1A2	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	478	ATP1A3	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	128989	TANGO2	ORPHA:480864
HP:0030895	Abnormal gastrointestinal motility	1717	DHCR7	OMIM:270400
HP:0030895	Abnormal gastrointestinal motility	1019	CDK4	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	4193	MDM2	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	8091	HMGA2	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	7466	WFS1	ORPHA:411590
HP:0030895	Abnormal gastrointestinal motility	25828	TXN2	ORPHA:478029
HP:0030895	Abnormal gastrointestinal motility	55148	UBR7	OMIM:619189
HP:0030895	Abnormal gastrointestinal motility	101060691	NUTM2B-AS1	OMIM:618637
HP:0030895	Abnormal gastrointestinal motility	2521	FUS	ORPHA:99967
HP:0030895	Abnormal gastrointestinal motility	1649	DDIT3	ORPHA:99967
HP:0030895	Abnormal gastrointestinal motility	3028	HSD17B10	ORPHA:391428
HP:0030895	Abnormal gastrointestinal motility	91574	MTRFR	ORPHA:254930
HP:0030895	Abnormal gastrointestinal motility	91574	MTRFR	OMIM:613559
HP:0030895	Abnormal gastrointestinal motility	2184	FAH	OMIM:276700
HP:0030895	Abnormal gastrointestinal motility	6535	SLC6A8	OMIM:300352
HP:0030895	Abnormal gastrointestinal motility	6535	SLC6A8	ORPHA:52503
HP:0030895	Abnormal gastrointestinal motility	2130	EWSR1	ORPHA:83469
HP:0030895	Abnormal gastrointestinal motility	7490	WT1	ORPHA:83469
HP:0030895	Abnormal gastrointestinal motility	50943	FOXP3	ORPHA:37042
HP:0030895	Abnormal gastrointestinal motility	50943	FOXP3	OMIM:304790
HP:0030895	Abnormal gastrointestinal motility	6663	SOX10	ORPHA:163746
HP:0030895	Abnormal gastrointestinal motility	6663	SOX10	OMIM:609136
HP:0030895	Abnormal gastrointestinal motility	284119	CAVIN1	OMIM:613327
HP:0030895	Abnormal gastrointestinal motility	5498	PPOX	ORPHA:79473
HP:0030895	Abnormal gastrointestinal motility	3145	HMBS	ORPHA:79276
HP:0030895	Abnormal gastrointestinal motility	26153	KIF26A	OMIM:620156
HP:0030895	Abnormal gastrointestinal motility	3190	HNRNPK	ORPHA:453504
HP:0030895	Abnormal gastrointestinal motility	3190	HNRNPK	ORPHA:352665
HP:0030895	Abnormal gastrointestinal motility	4558	MT-TF	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4572	MT-TQ	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4512	MT-CO1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4513	MT-CO2	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4514	MT-CO3	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4578	MT-TW	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4540	MT-ND5	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4541	MT-ND6	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4535	MT-ND1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4538	MT-ND4	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4567	MT-TL1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4574	MT-TS1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4575	MT-TS2	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4564	MT-TH	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	OMIM:607459
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	OMIM:613662
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	OMIM:603041
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	ORPHA:70595
HP:0030895	Abnormal gastrointestinal motility	56652	TWNK	OMIM:607459
HP:0030895	Abnormal gastrointestinal motility	56652	TWNK	ORPHA:70595
HP:0030895	Abnormal gastrointestinal motility	72	ACTG2	OMIM:155310
HP:0030895	Abnormal gastrointestinal motility	2316	FLNA	OMIM:300048
HP:0030895	Abnormal gastrointestinal motility	151648	SGO1	OMIM:616201
HP:0030895	Abnormal gastrointestinal motility	6608	SMO	OMIM:601707
HP:0030895	Abnormal gastrointestinal motility	3423	IDS	OMIM:309900
HP:0030895	Abnormal gastrointestinal motility	3980	LIG3	OMIM:619780
HP:0030895	Abnormal gastrointestinal motility	672	BRCA1	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	285282	RABL3	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	7157	TP53	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	675	BRCA2	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	3845	KRAS	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	1029	CDKN2A	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	79728	PALB2	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	4089	SMAD4	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	23022	PALLD	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	5885	RAD21	OMIM:611376
HP:0030895	Abnormal gastrointestinal motility	2065	ERBB3	OMIM:243180
HP:0030895	Abnormal gastrointestinal motility	1890	TYMP	OMIM:603041
HP:0030895	Abnormal gastrointestinal motility	6572	SLC18A3	OMIM:617239
HP:0030895	Abnormal gastrointestinal motility	2984	GUCY2C	OMIM:614665
HP:0030895	Abnormal gastrointestinal motility	6804	STX1A	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	2947	GSTM3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	7040	TGFB1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	7040	TGFB1	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	2729	GCLC	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1084	CEACAM3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	6556	SLC11A1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	51164	DCTN4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3783	KCNN4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	4282	MIF	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1909	EDNRA	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	6550	SLC9A3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3162	HMOX1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	115019	SLC26A9	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3077	HFE	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	11254	SLC6A14	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	5265	SERPINA1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1080	CFTR	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1080	CFTR	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	22802	CLCA4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	4680	CEACAM6	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	2212	FCGR2A	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	50484	RRM2B	ORPHA:298
HP:0030895	Abnormal gastrointestinal motility	1371	CPOX	ORPHA:79273
HP:0030895	Abnormal gastrointestinal motility	79827	CLMP	OMIM:615237
HP:0030895	Abnormal gastrointestinal motility	55107	ANO1	OMIM:620045
HP:0030895	Abnormal gastrointestinal motility	283446	MYO1H	OMIM:619482
HP:0030895	Abnormal gastrointestinal motility	4629	MYH11	OMIM:619350
HP:0030895	Abnormal gastrointestinal motility	8929	PHOX2B	OMIM:209880
HP:0030895	Abnormal gastrointestinal motility	25802	LMOD1	ORPHA:2241
HP:0030895	Abnormal gastrointestinal motility	4638	MYLK	ORPHA:2241
HP:0030895	Abnormal gastrointestinal motility	59	ACTA2	OMIM:613834
HP:0030895	Abnormal gastrointestinal motility	10398	MYL9	OMIM:619365
HP:0030895	Abnormal gastrointestinal motility	55898	UNC45A	OMIM:619377
HP:0030892	Deep cerebral white matter hyperintensities	5654	HTRA1	ORPHA:199354
HP:0030892	Deep cerebral white matter hyperintensities	23503	ZFYVE26	ORPHA:100996
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309271
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309263
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309256
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309271
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309263
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309256
HP:0030891	Periventricular white matter hyperintensities	1267	CNP	OMIM:619071
HP:0030891	Periventricular white matter hyperintensities	2760	GM2A	ORPHA:309246
HP:0030891	Periventricular white matter hyperintensities	1203	CLN5	ORPHA:228360
HP:0030891	Periventricular white matter hyperintensities	51324	SPG21	OMIM:248900
HP:0030891	Periventricular white matter hyperintensities	84065	TMEM222	OMIM:619470
HP:0030891	Periventricular white matter hyperintensities	7555	CNBP	OMIM:602668
HP:0030891	Periventricular white matter hyperintensities	6134	RPL10	OMIM:300998
HP:0030891	Periventricular white matter hyperintensities	5058	PAK1	OMIM:618158
HP:0030891	Periventricular white matter hyperintensities	4761	NEUROD2	OMIM:618374
HP:0030891	Periventricular white matter hyperintensities	23259	DDHD2	OMIM:615033
HP:0030891	Periventricular white matter hyperintensities	23259	DDHD2	ORPHA:320380
HP:0030891	Periventricular white matter hyperintensities	22866	CNKSR2	OMIM:301008
HP:0030891	Periventricular white matter hyperintensities	9692	PRORP	OMIM:619737
HP:0030891	Periventricular white matter hyperintensities	92335	STRADA	ORPHA:500533
HP:0030891	Periventricular white matter hyperintensities	51412	ACTL6B	OMIM:618468
HP:0030891	Periventricular white matter hyperintensities	25974	MMACHC	ORPHA:79282
HP:0030891	Periventricular white matter hyperintensities	2783	GNB2	OMIM:619503
HP:0030891	Periventricular white matter hyperintensities	7920	ABHD16A	OMIM:619735
HP:0030891	Periventricular white matter hyperintensities	25782	RAB3GAP2	OMIM:212720
HP:0030891	Periventricular white matter hyperintensities	85465	SELENOI	OMIM:618768
HP:0030891	Periventricular white matter hyperintensities	59	ACTA2	OMIM:613834
HP:0030891	Periventricular white matter hyperintensities	9907	AP5Z1	OMIM:613647
HP:0030891	Periventricular white matter hyperintensities	80036	TRPM3	OMIM:620224
HP:0030891	Periventricular white matter hyperintensities	10060	ABCC9	OMIM:619719
HP:0030899	Pruritis on hand	1080	CFTR	ORPHA:498359
HP:0030899	Pruritis on hand	5205	ATP8B1	ORPHA:69665
HP:0030899	Pruritis on hand	8647	ABCB11	ORPHA:69665
HP:0030899	Pruritis on hand	5244	ABCB4	ORPHA:69665
HP:0030899	Pruritis on hand	9971	NR1H4	ORPHA:69665
HP:0007452	Midface capillary hemangioma	157570	ESCO2	OMIM:268300
HP:0007452	Midface capillary hemangioma	157570	ESCO2	ORPHA:3103
HP:0007452	Midface capillary hemangioma	9401	RECQL4	OMIM:218600
HP:0007453	Flexural lichenification	3858	KRT10	OMIM:607602
HP:0000290	Abnormality of the forehead	4665	NAB2	ORPHA:2126
HP:0000290	Abnormality of the forehead	6778	STAT6	ORPHA:2126
HP:0000290	Abnormality of the forehead	3763	KCNJ6	ORPHA:435628
HP:0000290	Abnormality of the forehead	4035	LRP1	ORPHA:79100
HP:0000290	Abnormality of the forehead	9131	AIFM1	OMIM:300232
HP:0000290	Abnormality of the forehead	6909	TBX2	OMIM:618223
HP:0000290	Abnormality of the forehead	117581	TWIST2	OMIM:227260
HP:0000290	Abnormality of the forehead	117581	TWIST2	OMIM:209885
HP:0000290	Abnormality of the forehead	6885	MAP3K7	OMIM:617137
HP:0000290	Abnormality of the forehead	8818	DPM2	ORPHA:329178
HP:0000290	Abnormality of the forehead	55209	SETD5	ORPHA:404440
HP:0000290	Abnormality of the forehead	55209	SETD5	OMIM:615761
HP:0000290	Abnormality of the forehead	55869	HDAC8	OMIM:300882
HP:0000290	Abnormality of the forehead	55869	HDAC8	ORPHA:199
HP:0000290	Abnormality of the forehead	341640	FREM2	OMIM:617666
HP:0000290	Abnormality of the forehead	55690	PACS1	OMIM:615009
HP:0000290	Abnormality of the forehead	55690	PACS1	ORPHA:329224
HP:0000290	Abnormality of the forehead	4081	MAB21L1	OMIM:618479
HP:0000290	Abnormality of the forehead	80055	PGAP1	OMIM:615802
HP:0000290	Abnormality of the forehead	318	NUDT2	OMIM:619844
HP:0000290	Abnormality of the forehead	10982	MAPRE2	OMIM:616734
HP:0000290	Abnormality of the forehead	25782	RAB3GAP2	OMIM:212720
HP:0000290	Abnormality of the forehead	25782	RAB3GAP2	OMIM:614225
HP:0000290	Abnormality of the forehead	3764	KCNJ8	ORPHA:1517
HP:0000290	Abnormality of the forehead	9126	SMC3	OMIM:610759
HP:0000290	Abnormality of the forehead	9126	SMC3	ORPHA:199
HP:0000290	Abnormality of the forehead	6595	SMARCA2	OMIM:619293
HP:0000290	Abnormality of the forehead	6595	SMARCA2	OMIM:601358
HP:0000290	Abnormality of the forehead	5934	RBL2	OMIM:619690
HP:0000290	Abnormality of the forehead	83999	KREMEN1	OMIM:617392
HP:0000290	Abnormality of the forehead	23221	RHOBTB2	OMIM:618004
HP:0000290	Abnormality of the forehead	55870	ASH1L	OMIM:617796
HP:0000290	Abnormality of the forehead	6597	SMARCA4	ORPHA:1465
HP:0000290	Abnormality of the forehead	6598	SMARCB1	ORPHA:1465
HP:0000290	Abnormality of the forehead	6659	SOX4	ORPHA:1465
HP:0000290	Abnormality of the forehead	8289	ARID1A	ORPHA:1465
HP:0000290	Abnormality of the forehead	8289	ARID1A	OMIM:614607
HP:0000290	Abnormality of the forehead	6601	SMARCC2	ORPHA:1465
HP:0000290	Abnormality of the forehead	57492	ARID1B	ORPHA:1465
HP:0000290	Abnormality of the forehead	6605	SMARCE1	ORPHA:1465
HP:0000290	Abnormality of the forehead	6605	SMARCE1	OMIM:616938
HP:0000290	Abnormality of the forehead	6664	SOX11	ORPHA:1465
HP:0000290	Abnormality of the forehead	23065	EMC1	OMIM:616875
HP:0000290	Abnormality of the forehead	23065	EMC1	ORPHA:480898
HP:0000290	Abnormality of the forehead	128637	TBC1D20	OMIM:615663
HP:0000290	Abnormality of the forehead	3782	KCNN3	OMIM:618658
HP:0000290	Abnormality of the forehead	57572	DOCK6	OMIM:614219
HP:0000290	Abnormality of the forehead	59336	PRDM13	OMIM:619909
HP:0000290	Abnormality of the forehead	23476	BRD4	ORPHA:199
HP:0000290	Abnormality of the forehead	25836	NIPBL	ORPHA:199
HP:0000290	Abnormality of the forehead	5885	RAD21	ORPHA:199
HP:0000290	Abnormality of the forehead	9895	TECPR2	OMIM:615031
HP:0000290	Abnormality of the forehead	9895	TECPR2	ORPHA:320385
HP:0000290	Abnormality of the forehead	157680	VPS13B	ORPHA:193
HP:0000290	Abnormality of the forehead	22931	RAB18	OMIM:614222
HP:0000290	Abnormality of the forehead	526	ATP6V1B2	ORPHA:79500
HP:0000290	Abnormality of the forehead	84172	POLR1B	ORPHA:861
HP:0000290	Abnormality of the forehead	9533	POLR1C	ORPHA:861
HP:0000290	Abnormality of the forehead	51082	POLR1D	ORPHA:861
HP:0000290	Abnormality of the forehead	6949	TCOF1	ORPHA:861
HP:0000290	Abnormality of the forehead	7204	TRIO	OMIM:617061
HP:0000290	Abnormality of the forehead	374879	ZNF699	OMIM:619488
HP:0000290	Abnormality of the forehead	253959	RALGAPA1	OMIM:618797
HP:0000290	Abnormality of the forehead	440138	ALG11	OMIM:613661
HP:0000290	Abnormality of the forehead	55343	SLC35C1	ORPHA:99843
HP:0000290	Abnormality of the forehead	3643	INSR	ORPHA:769
HP:0000290	Abnormality of the forehead	5468	PPARG	ORPHA:528
HP:0000290	Abnormality of the forehead	10555	AGPAT2	ORPHA:528
HP:0000290	Abnormality of the forehead	284119	CAVIN1	ORPHA:528
HP:0000290	Abnormality of the forehead	26580	BSCL2	ORPHA:528
HP:0000290	Abnormality of the forehead	2353	FOS	ORPHA:528
HP:0000290	Abnormality of the forehead	857	CAV1	ORPHA:528
HP:0000290	Abnormality of the forehead	3339	HSPG2	ORPHA:800
HP:0000290	Abnormality of the forehead	6135	RPL11	ORPHA:124
HP:0000290	Abnormality of the forehead	6138	RPL15	ORPHA:124
HP:0000290	Abnormality of the forehead	6229	RPS24	ORPHA:124
HP:0000290	Abnormality of the forehead	6125	RPL5	ORPHA:124
HP:0000290	Abnormality of the forehead	6204	RPS10	ORPHA:124
HP:0000290	Abnormality of the forehead	6224	RPS20	ORPHA:124
HP:0000290	Abnormality of the forehead	6165	RPL35A	ORPHA:124
HP:0000290	Abnormality of the forehead	2623	GATA1	ORPHA:124
HP:0000290	Abnormality of the forehead	6223	RPS19	ORPHA:124
HP:0000290	Abnormality of the forehead	6232	RPS27	ORPHA:124
HP:0000290	Abnormality of the forehead	6231	RPS26	ORPHA:124
HP:0000290	Abnormality of the forehead	11224	RPL35	ORPHA:124
HP:0000290	Abnormality of the forehead	6160	RPL31	ORPHA:124
HP:0000290	Abnormality of the forehead	6218	RPS17	ORPHA:124
HP:0000290	Abnormality of the forehead	6201	RPS7	ORPHA:124
HP:0000290	Abnormality of the forehead	6155	RPL27	ORPHA:124
HP:0000290	Abnormality of the forehead	6154	RPL26	ORPHA:124
HP:0000290	Abnormality of the forehead	6210	RPS15A	ORPHA:124
HP:0000290	Abnormality of the forehead	90121	TSR2	ORPHA:124
HP:0000290	Abnormality of the forehead	6141	RPL18	ORPHA:124
HP:0000290	Abnormality of the forehead	6235	RPS29	ORPHA:124
HP:0000290	Abnormality of the forehead	6234	RPS28	ORPHA:124
HP:0000290	Abnormality of the forehead	51816	ADA2	ORPHA:124
HP:0000290	Abnormality of the forehead	6913	TBX15	OMIM:260660
HP:0000290	Abnormality of the forehead	29123	ANKRD11	OMIM:148050
HP:0000290	Abnormality of the forehead	6878	TAF6	OMIM:617126
HP:0000290	Abnormality of the forehead	3476	IGBP1	OMIM:300472
HP:0000290	Abnormality of the forehead	7528	YY1	ORPHA:506358
HP:0000290	Abnormality of the forehead	7528	YY1	OMIM:617557
HP:0000290	Abnormality of the forehead	6535	SLC6A8	OMIM:300352
HP:0000290	Abnormality of the forehead	51256	TBC1D7	OMIM:248000
HP:0000290	Abnormality of the forehead	9820	CUL7	ORPHA:2616
HP:0000290	Abnormality of the forehead	83987	CCDC8	ORPHA:2616
HP:0000290	Abnormality of the forehead	84282	RNF135	ORPHA:137634
HP:0000290	Abnormality of the forehead	7021	TFAP2B	OMIM:169100
HP:0000290	Abnormality of the forehead	55777	MBD5	ORPHA:228402
HP:0000290	Abnormality of the forehead	55777	MBD5	OMIM:156200
HP:0000290	Abnormality of the forehead	4774	NFIA	OMIM:613735
HP:0000290	Abnormality of the forehead	23118	TAB2	ORPHA:228410
HP:0000290	Abnormality of the forehead	9578	CDC42BPB	OMIM:619841
HP:0000290	Abnormality of the forehead	72	ACTG2	ORPHA:2604
HP:0000290	Abnormality of the forehead	2314	FLII	ORPHA:819
HP:0000290	Abnormality of the forehead	23096	IQSEC2	ORPHA:819
HP:0000290	Abnormality of the forehead	10743	RAI1	ORPHA:819
HP:0000290	Abnormality of the forehead	10743	RAI1	ORPHA:1713
HP:0000290	Abnormality of the forehead	10522	DEAF1	ORPHA:819
HP:0000290	Abnormality of the forehead	29957	SLC25A24	ORPHA:2963
HP:0000290	Abnormality of the forehead	29957	SLC25A24	OMIM:612289
HP:0000290	Abnormality of the forehead	5426	POLE	OMIM:615139
HP:0000290	Abnormality of the forehead	83550	GPR101	ORPHA:963
HP:0000290	Abnormality of the forehead	9049	AIP	ORPHA:963
HP:0000290	Abnormality of the forehead	8726	EED	OMIM:617561
HP:0000290	Abnormality of the forehead	8726	EED	ORPHA:3447
HP:0000290	Abnormality of the forehead	649	BMP1	OMIM:614856
HP:0000290	Abnormality of the forehead	4036	LRP2	ORPHA:2143
HP:0000290	Abnormality of the forehead	11285	B4GALT7	OMIM:130070
HP:0000290	Abnormality of the forehead	8493	PPM1D	OMIM:617450
HP:0000290	Abnormality of the forehead	7862	BRPF1	OMIM:617333
HP:0000290	Abnormality of the forehead	23126	POGZ	OMIM:616364
HP:0000290	Abnormality of the forehead	3845	KRAS	OMIM:615278
HP:0000290	Abnormality of the forehead	9508	ADAMTS3	ORPHA:2136
HP:0000290	Abnormality of the forehead	147372	CCBE1	ORPHA:2136
HP:0000290	Abnormality of the forehead	147372	CCBE1	OMIM:235510
HP:0000290	Abnormality of the forehead	6804	STX1A	ORPHA:904
HP:0000290	Abnormality of the forehead	7461	CLIP2	ORPHA:904
HP:0000290	Abnormality of the forehead	84277	DNAJC30	ORPHA:904
HP:0000290	Abnormality of the forehead	8468	FKBP6	ORPHA:904
HP:0000290	Abnormality of the forehead	5982	RFC2	ORPHA:904
HP:0000290	Abnormality of the forehead	2969	GTF2I	ORPHA:904
HP:0000290	Abnormality of the forehead	3984	LIMK1	ORPHA:904
HP:0000290	Abnormality of the forehead	9569	GTF2IRD1	ORPHA:904
HP:0000290	Abnormality of the forehead	155382	VPS37D	ORPHA:904
HP:0000290	Abnormality of the forehead	155368	METTL27	ORPHA:904
HP:0000290	Abnormality of the forehead	114049	BUD23	ORPHA:904
HP:0000290	Abnormality of the forehead	7458	EIF4H	ORPHA:904
HP:0000290	Abnormality of the forehead	84163	GTF2IRD2	ORPHA:904
HP:0000290	Abnormality of the forehead	9275	BCL7B	ORPHA:904
HP:0000290	Abnormality of the forehead	26608	TBL2	ORPHA:904
HP:0000290	Abnormality of the forehead	653361	NCF1	ORPHA:904
HP:0000290	Abnormality of the forehead	135886	TMEM270	ORPHA:904
HP:0000290	Abnormality of the forehead	9031	BAZ1B	ORPHA:904
HP:0000290	Abnormality of the forehead	3211	HOXB1	OMIM:614744
HP:0000290	Abnormality of the forehead	6134	RPL10	ORPHA:459070
HP:0000290	Abnormality of the forehead	79228	THOC6	ORPHA:363444
HP:0000290	Abnormality of the forehead	57459	GATAD2B	ORPHA:363686
HP:0000290	Abnormality of the forehead	57459	GATAD2B	OMIM:615074
HP:0000290	Abnormality of the forehead	78989	COLEC11	OMIM:265050
HP:0000290	Abnormality of the forehead	200424	TET3	OMIM:618798
HP:0000290	Abnormality of the forehead	182	JAG1	OMIM:118450
HP:0000290	Abnormality of the forehead	182	JAG1	OMIM:187500
HP:0000290	Abnormality of the forehead	182	JAG1	ORPHA:3303
HP:0000290	Abnormality of the forehead	6901	TAFAZZIN	OMIM:302060
HP:0000290	Abnormality of the forehead	9338	TCEAL1	OMIM:301094
HP:0000290	Abnormality of the forehead	4208	MEF2C	ORPHA:228384
HP:0000290	Abnormality of the forehead	4208	MEF2C	OMIM:613443
HP:0000290	Abnormality of the forehead	2626	GATA4	OMIM:187500
HP:0000290	Abnormality of the forehead	2626	GATA4	ORPHA:3303
HP:0000290	Abnormality of the forehead	23414	ZFPM2	OMIM:187500
HP:0000290	Abnormality of the forehead	23414	ZFPM2	ORPHA:3303
HP:0000290	Abnormality of the forehead	1482	NKX2-5	OMIM:187500
HP:0000290	Abnormality of the forehead	1482	NKX2-5	ORPHA:3303
HP:0000290	Abnormality of the forehead	6899	TBX1	OMIM:187500
HP:0000290	Abnormality of the forehead	6899	TBX1	ORPHA:3303
HP:0000290	Abnormality of the forehead	2627	GATA6	OMIM:187500
HP:0000290	Abnormality of the forehead	2627	GATA6	ORPHA:3303
HP:0000290	Abnormality of the forehead	4677	NARS1	OMIM:619092
HP:0000290	Abnormality of the forehead	84168	ANTXR1	OMIM:230740
HP:0000290	Abnormality of the forehead	84168	ANTXR1	ORPHA:2067
HP:0000290	Abnormality of the forehead	8504	PEX3	OMIM:614882
HP:0000290	Abnormality of the forehead	4087	SMAD2	OMIM:619657
HP:0000290	Abnormality of the forehead	9939	RBM8A	ORPHA:3320
HP:0000290	Abnormality of the forehead	2146	EZH2	ORPHA:3447
HP:0000290	Abnormality of the forehead	25970	SH2B1	ORPHA:261197
HP:0000290	Abnormality of the forehead	1523	CUX1	OMIM:618330
HP:0000290	Abnormality of the forehead	867	CBL	OMIM:613563
HP:0000290	Abnormality of the forehead	2245	FGD1	ORPHA:915
HP:0000290	Abnormality of the forehead	2719	GPC3	OMIM:312870
HP:0000290	Abnormality of the forehead	6938	TCF12	ORPHA:35099
HP:0000290	Abnormality of the forehead	7545	ZIC1	ORPHA:35099
HP:0000290	Abnormality of the forehead	123606	NIPA1	ORPHA:261183
HP:0000290	Abnormality of the forehead	7283	TUBG1	ORPHA:261183
HP:0000290	Abnormality of the forehead	81614	NIPA2	ORPHA:261183
HP:0000290	Abnormality of the forehead	137814	NKX2-6	ORPHA:3303
HP:0000290	Abnormality of the forehead	3791	KDR	ORPHA:3303
HP:0000290	Abnormality of the forehead	2657	GDF1	ORPHA:3303
HP:0000290	Abnormality of the forehead	140628	GATA5	ORPHA:3303
HP:0000290	Abnormality of the forehead	2324	FLT4	ORPHA:3303
HP:0000290	Abnormality of the forehead	10370	CITED2	ORPHA:3303
HP:0000290	Abnormality of the forehead	5515	PPP2CA	OMIM:618354
HP:0000290	Abnormality of the forehead	3417	IDH1	ORPHA:99646
HP:0000290	Abnormality of the forehead	64135	IFIH1	OMIM:182250
HP:0000290	Abnormality of the forehead	3039	HBA1	ORPHA:98791
HP:0000290	Abnormality of the forehead	3040	HBA2	ORPHA:98791
HP:0000290	Abnormality of the forehead	51132	RLIM	OMIM:300978
HP:0000290	Abnormality of the forehead	3756	KCNH1	OMIM:135500
HP:0000290	Abnormality of the forehead	55603	TENT5A	OMIM:617952
HP:0000290	Abnormality of the forehead	134701	RIPPLY2	ORPHA:2311
HP:0000290	Abnormality of the forehead	10683	DLL3	ORPHA:2311
HP:0000290	Abnormality of the forehead	3955	LFNG	ORPHA:2311
HP:0000290	Abnormality of the forehead	84667	HES7	ORPHA:2311
HP:0000290	Abnormality of the forehead	145873	MESP2	ORPHA:2311
HP:0000290	Abnormality of the forehead	201163	FLCN	OMIM:610883
HP:0000290	Abnormality of the forehead	3759	KCNJ2	OMIM:170390
HP:0000290	Abnormality of the forehead	3759	KCNJ2	ORPHA:37553
HP:0000290	Abnormality of the forehead	7703	PCGF2	OMIM:618371
HP:0000290	Abnormality of the forehead	51729	WBP11	OMIM:619227
HP:0000290	Abnormality of the forehead	57187	THOC2	ORPHA:457240
HP:0000290	Abnormality of the forehead	4041	LRP5	ORPHA:178377
HP:0000290	Abnormality of the forehead	92002	CCNQ	OMIM:300707
HP:0000290	Abnormality of the forehead	79005	SCNM1	OMIM:620107
HP:0000290	Abnormality of the forehead	80036	TRPM3	OMIM:620224
HP:0000290	Abnormality of the forehead	63932	STEEP1	OMIM:301013
HP:0000290	Abnormality of the forehead	113189	CHST14	OMIM:601776
HP:0000290	Abnormality of the forehead	5290	PIK3CA	OMIM:602501
HP:0000290	Abnormality of the forehead	5058	PAK1	OMIM:618158
HP:0000290	Abnormality of the forehead	28952	CCDC22	OMIM:300963
HP:0000290	Abnormality of the forehead	91875	TTC5	OMIM:619244
HP:0000290	Abnormality of the forehead	9897	WASHC5	OMIM:220210
HP:0000290	Abnormality of the forehead	284058	KANSL1	OMIM:610443
HP:0000290	Abnormality of the forehead	5557	PRIM1	OMIM:620005
HP:0000290	Abnormality of the forehead	1788	DNMT3A	OMIM:618724
HP:0000290	Abnormality of the forehead	4853	NOTCH2	OMIM:610205
HP:0000290	Abnormality of the forehead	284361	EMC10	OMIM:619264
HP:0000290	Abnormality of the forehead	5567	PRKACB	OMIM:619143
HP:0000290	Abnormality of the forehead	3762	KCNJ5	ORPHA:37553
HP:0000290	Abnormality of the forehead	5604	MAP2K1	OMIM:163950
HP:0000290	Abnormality of the forehead	5781	PTPN11	OMIM:163950
HP:0000290	Abnormality of the forehead	11113	CIT	OMIM:617090
HP:0000290	Abnormality of the forehead	11113	CIT	ORPHA:2512
HP:0000290	Abnormality of the forehead	27238	GPKOW	ORPHA:2570
HP:0000290	Abnormality of the forehead	23141	ANKLE2	OMIM:616681
HP:0000290	Abnormality of the forehead	23141	ANKLE2	ORPHA:2512
HP:0000290	Abnormality of the forehead	10617	STAMBP	OMIM:614261
HP:0000290	Abnormality of the forehead	23019	CNOT1	OMIM:618500
HP:0000290	Abnormality of the forehead	23019	CNOT1	ORPHA:556955
HP:0000290	Abnormality of the forehead	4683	NBN	OMIM:251260
HP:0000290	Abnormality of the forehead	4683	NBN	ORPHA:647
HP:0000290	Abnormality of the forehead	8425	LTBP4	OMIM:613177
HP:0000290	Abnormality of the forehead	100151683	RNU4ATAC	OMIM:210710
HP:0000290	Abnormality of the forehead	100151683	RNU4ATAC	OMIM:226960
HP:0000290	Abnormality of the forehead	100151683	RNU4ATAC	ORPHA:2636
HP:0000290	Abnormality of the forehead	84942	WDR73	OMIM:251300
HP:0000290	Abnormality of the forehead	2737	GLI3	ORPHA:36
HP:0000290	Abnormality of the forehead	374654	KIF7	ORPHA:36
HP:0000290	Abnormality of the forehead	4784	NFIX	ORPHA:447980
HP:0000290	Abnormality of the forehead	10733	PLK4	OMIM:616171
HP:0000290	Abnormality of the forehead	10733	PLK4	ORPHA:2518
HP:0000290	Abnormality of the forehead	1062	CENPE	OMIM:616051
HP:0000290	Abnormality of the forehead	80816	ASXL3	OMIM:615485
HP:0000290	Abnormality of the forehead	113179	ADAT3	ORPHA:363528
HP:0000290	Abnormality of the forehead	51506	UFC1	OMIM:618076
HP:0000290	Abnormality of the forehead	9662	CEP135	OMIM:614673
HP:0000290	Abnormality of the forehead	9662	CEP135	ORPHA:2512
HP:0000290	Abnormality of the forehead	55033	FKBP14	OMIM:614557
HP:0000290	Abnormality of the forehead	26128	KIFBP	ORPHA:66629
HP:0000290	Abnormality of the forehead	57082	KNL1	OMIM:604321
HP:0000290	Abnormality of the forehead	57082	KNL1	ORPHA:2512
HP:0000290	Abnormality of the forehead	5053	PAH	ORPHA:2209
HP:0000290	Abnormality of the forehead	29954	POMT2	OMIM:236670
HP:0000290	Abnormality of the forehead	9215	LARGE1	OMIM:236670
HP:0000290	Abnormality of the forehead	79147	FKRP	OMIM:236670
HP:0000290	Abnormality of the forehead	10585	POMT1	OMIM:236670
HP:0000290	Abnormality of the forehead	2218	FKTN	OMIM:236670
HP:0000290	Abnormality of the forehead	79840	NHEJ1	ORPHA:169079
HP:0000290	Abnormality of the forehead	284403	WDR62	OMIM:604317
HP:0000290	Abnormality of the forehead	284403	WDR62	ORPHA:2512
HP:0000290	Abnormality of the forehead	25839	COG4	ORPHA:263501
HP:0000290	Abnormality of the forehead	10735	STAG2	OMIM:301022
HP:0000290	Abnormality of the forehead	56915	EXOSC5	OMIM:619576
HP:0000290	Abnormality of the forehead	63925	ZNF335	OMIM:615095
HP:0000290	Abnormality of the forehead	27341	RRP7A	OMIM:619453
HP:0000290	Abnormality of the forehead	80746	TSEN2	OMIM:612389
HP:0000290	Abnormality of the forehead	80746	TSEN2	ORPHA:2524
HP:0000290	Abnormality of the forehead	1509	CTSD	OMIM:610127
HP:0000290	Abnormality of the forehead	672	BRCA1	ORPHA:84
HP:0000290	Abnormality of the forehead	10459	MAD2L2	ORPHA:84
HP:0000290	Abnormality of the forehead	7516	XRCC2	ORPHA:84
HP:0000290	Abnormality of the forehead	29089	UBE2T	ORPHA:84
HP:0000290	Abnormality of the forehead	675	BRCA2	ORPHA:84
HP:0000290	Abnormality of the forehead	55120	FANCL	ORPHA:84
HP:0000290	Abnormality of the forehead	2177	FANCD2	ORPHA:84
HP:0000290	Abnormality of the forehead	2175	FANCA	ORPHA:84
HP:0000290	Abnormality of the forehead	2187	FANCB	ORPHA:84
HP:0000290	Abnormality of the forehead	2176	FANCC	ORPHA:84
HP:0000290	Abnormality of the forehead	2178	FANCE	ORPHA:84
HP:0000290	Abnormality of the forehead	2188	FANCF	ORPHA:84
HP:0000290	Abnormality of the forehead	2189	FANCG	ORPHA:84
HP:0000290	Abnormality of the forehead	5888	RAD51	ORPHA:84
HP:0000290	Abnormality of the forehead	5889	RAD51C	ORPHA:84
HP:0000290	Abnormality of the forehead	55159	RFWD3	ORPHA:84
HP:0000290	Abnormality of the forehead	83990	BRIP1	ORPHA:84
HP:0000290	Abnormality of the forehead	57697	FANCM	ORPHA:84
HP:0000290	Abnormality of the forehead	79728	PALB2	ORPHA:84
HP:0000290	Abnormality of the forehead	84464	SLX4	ORPHA:84
HP:0000290	Abnormality of the forehead	2072	ERCC4	ORPHA:84
HP:0000290	Abnormality of the forehead	55215	FANCI	ORPHA:84
HP:0000290	Abnormality of the forehead	6491	STIL	OMIM:612703
HP:0000290	Abnormality of the forehead	6491	STIL	ORPHA:2512
HP:0000290	Abnormality of the forehead	84314	TMEM107	ORPHA:564
HP:0000290	Abnormality of the forehead	26123	TCTN3	ORPHA:564
HP:0000290	Abnormality of the forehead	79867	TCTN2	ORPHA:564
HP:0000290	Abnormality of the forehead	80776	B9D2	ORPHA:564
HP:0000290	Abnormality of the forehead	79600	TCTN1	ORPHA:564
HP:0000290	Abnormality of the forehead	57096	RPGRIP1	ORPHA:564
HP:0000290	Abnormality of the forehead	79848	CSPP1	ORPHA:564
HP:0000290	Abnormality of the forehead	80184	CEP290	ORPHA:564
HP:0000290	Abnormality of the forehead	51259	TMEM216	ORPHA:564
HP:0000290	Abnormality of the forehead	57545	CC2D2A	ORPHA:564
HP:0000290	Abnormality of the forehead	79583	TMEM231	ORPHA:564
HP:0000290	Abnormality of the forehead	91147	TMEM67	ORPHA:564
HP:0000290	Abnormality of the forehead	79770	TXNDC15	ORPHA:564
HP:0000290	Abnormality of the forehead	27077	B9D1	ORPHA:564
HP:0000290	Abnormality of the forehead	23322	RPGRIP1L	ORPHA:564
HP:0000290	Abnormality of the forehead	54903	MKS1	ORPHA:564
HP:0000290	Abnormality of the forehead	54903	MKS1	OMIM:249000
HP:0000290	Abnormality of the forehead	65062	TMEM237	ORPHA:564
HP:0000290	Abnormality of the forehead	1781	DYNC1I2	OMIM:618492
HP:0000290	Abnormality of the forehead	283989	TSEN54	ORPHA:166063
HP:0000290	Abnormality of the forehead	283989	TSEN54	ORPHA:2524
HP:0000290	Abnormality of the forehead	29968	PSAT1	ORPHA:284417
HP:0000290	Abnormality of the forehead	29968	PSAT1	OMIM:616038
HP:0000290	Abnormality of the forehead	9184	BUB3	ORPHA:1052
HP:0000290	Abnormality of the forehead	699	BUB1	ORPHA:1052
HP:0000290	Abnormality of the forehead	9702	CEP57	ORPHA:1052
HP:0000290	Abnormality of the forehead	9319	TRIP13	ORPHA:1052
HP:0000290	Abnormality of the forehead	701	BUB1B	ORPHA:1052
HP:0000290	Abnormality of the forehead	26276	VPS33B	OMIM:208085
HP:0000290	Abnormality of the forehead	80185	TTI2	OMIM:615541
HP:0000290	Abnormality of the forehead	80185	TTI2	ORPHA:391307
HP:0000290	Abnormality of the forehead	545	ATR	OMIM:210600
HP:0000290	Abnormality of the forehead	860	RUNX2	ORPHA:1452
HP:0000290	Abnormality of the forehead	63894	VIPAS39	OMIM:613404
HP:0000290	Abnormality of the forehead	5116	PCNT	OMIM:210720
HP:0000290	Abnormality of the forehead	60386	SLC25A19	ORPHA:99742
HP:0000290	Abnormality of the forehead	60386	SLC25A19	OMIM:607196
HP:0000290	Abnormality of the forehead	26227	PHGDH	OMIM:256520
HP:0000290	Abnormality of the forehead	2074	ERCC6	OMIM:214150
HP:0000290	Abnormality of the forehead	54888	NSUN2	ORPHA:235
HP:0000290	Abnormality of the forehead	1021	CDK6	OMIM:616080
HP:0000290	Abnormality of the forehead	1021	CDK6	ORPHA:2512
HP:0000290	Abnormality of the forehead	80347	COASY	OMIM:618266
HP:0000290	Abnormality of the forehead	3590	IL11RA	OMIM:614188
HP:0000290	Abnormality of the forehead	5063	PAK3	OMIM:300558
HP:0000290	Abnormality of the forehead	26005	C2CD3	ORPHA:434179
HP:0000290	Abnormality of the forehead	116115	ZNF526	OMIM:619877
HP:0000290	Abnormality of the forehead	25914	RTTN	ORPHA:468631
HP:0000290	Abnormality of the forehead	10436	EMG1	ORPHA:1270
HP:0000290	Abnormality of the forehead	9918	NCAPD2	OMIM:617983
HP:0000290	Abnormality of the forehead	55755	CDK5RAP2	OMIM:604804
HP:0000290	Abnormality of the forehead	55755	CDK5RAP2	ORPHA:2512
HP:0000290	Abnormality of the forehead	56098	PCDHGC4	OMIM:619880
HP:0000290	Abnormality of the forehead	4256	MGP	ORPHA:85202
HP:0000290	Abnormality of the forehead	116461	TSEN15	ORPHA:2524
HP:0000290	Abnormality of the forehead	79042	TSEN34	ORPHA:2524
HP:0000290	Abnormality of the forehead	51091	SEPSECS	ORPHA:2524
HP:0000290	Abnormality of the forehead	9928	KIF14	OMIM:616258
HP:0000290	Abnormality of the forehead	9928	KIF14	OMIM:617914
HP:0000290	Abnormality of the forehead	9928	KIF14	ORPHA:2512
HP:0000290	Abnormality of the forehead	23397	NCAPH	OMIM:617985
HP:0000290	Abnormality of the forehead	3832	KIF11	ORPHA:2526
HP:0000290	Abnormality of the forehead	3832	KIF11	OMIM:152950
HP:0000290	Abnormality of the forehead	25973	PARS2	OMIM:618437
HP:0000290	Abnormality of the forehead	100506658	OCLN	OMIM:251290
HP:0000290	Abnormality of the forehead	79971	WLS	OMIM:619648
HP:0000290	Abnormality of the forehead	22995	CEP152	OMIM:613823
HP:0000290	Abnormality of the forehead	22995	CEP152	ORPHA:2512
HP:0000290	Abnormality of the forehead	8241	RBM10	ORPHA:2886
HP:0000290	Abnormality of the forehead	1376	CPT2	OMIM:608836
HP:0000290	Abnormality of the forehead	9320	TRIP12	OMIM:617752
HP:0000290	Abnormality of the forehead	7518	XRCC4	OMIM:616541
HP:0000290	Abnormality of the forehead	440	ASNS	OMIM:615574
HP:0000290	Abnormality of the forehead	85378	TUBGCP6	ORPHA:2518
HP:0000290	Abnormality of the forehead	85378	TUBGCP6	OMIM:251270
HP:0000290	Abnormality of the forehead	27229	TUBGCP4	ORPHA:2518
HP:0000290	Abnormality of the forehead	1968	EIF2S3	ORPHA:85282
HP:0000290	Abnormality of the forehead	23522	KAT6B	ORPHA:3047
HP:0000290	Abnormality of the forehead	9276	COPB2	ORPHA:2512
HP:0000290	Abnormality of the forehead	55262	TRAPPC14	ORPHA:2512
HP:0000290	Abnormality of the forehead	163786	SASS6	ORPHA:2512
HP:0000290	Abnormality of the forehead	84879	MFSD2A	ORPHA:2512
HP:0000290	Abnormality of the forehead	4176	MCM7	ORPHA:2512
HP:0000290	Abnormality of the forehead	80254	CEP63	ORPHA:2512
HP:0000290	Abnormality of the forehead	29081	METTL5	ORPHA:2512
HP:0000290	Abnormality of the forehead	23310	NCAPD3	ORPHA:2512
HP:0000290	Abnormality of the forehead	79648	MCPH1	ORPHA:2512
HP:0000290	Abnormality of the forehead	7109	TRAPPC10	ORPHA:2512
HP:0000290	Abnormality of the forehead	1911	PHC1	ORPHA:2512
HP:0000290	Abnormality of the forehead	6884	TAF13	ORPHA:2512
HP:0000290	Abnormality of the forehead	55835	CENPJ	ORPHA:2512
HP:0000290	Abnormality of the forehead	23133	PHF8	OMIM:300263
HP:0000290	Abnormality of the forehead	58497	PRUNE1	OMIM:617481
HP:0000290	Abnormality of the forehead	55331	ACER3	OMIM:617762
HP:0000290	Abnormality of the forehead	7407	VARS1	OMIM:617802
HP:0000290	Abnormality of the forehead	55770	EXOC2	OMIM:619306
HP:0000290	Abnormality of the forehead	3736	KCNA1	ORPHA:1934
HP:0000290	Abnormality of the forehead	9091	PIGQ	ORPHA:1934
HP:0000290	Abnormality of the forehead	2775	GNAO1	ORPHA:1934
HP:0000290	Abnormality of the forehead	81603	TRIM8	ORPHA:1934
HP:0000290	Abnormality of the forehead	2902	GRIN1	ORPHA:1934
HP:0000290	Abnormality of the forehead	79751	SLC25A22	ORPHA:1934
HP:0000290	Abnormality of the forehead	150094	SIK1	ORPHA:1934
HP:0000290	Abnormality of the forehead	8573	CASK	ORPHA:1934
HP:0000290	Abnormality of the forehead	23312	DMXL2	ORPHA:1934
HP:0000290	Abnormality of the forehead	2917	GRM7	ORPHA:1934
HP:0000290	Abnormality of the forehead	170302	ARX	ORPHA:1934
HP:0000290	Abnormality of the forehead	11284	PNKP	ORPHA:1934
HP:0000290	Abnormality of the forehead	6326	SCN2A	ORPHA:1934
HP:0000290	Abnormality of the forehead	51227	PIGP	ORPHA:1934
HP:0000290	Abnormality of the forehead	6324	SCN1B	ORPHA:1934
HP:0000290	Abnormality of the forehead	4761	NEUROD2	ORPHA:1934
HP:0000290	Abnormality of the forehead	8243	SMC1A	OMIM:300590
HP:0000290	Abnormality of the forehead	8243	SMC1A	OMIM:301044
HP:0000290	Abnormality of the forehead	8036	SHOC2	OMIM:607721
HP:0000290	Abnormality of the forehead	6309	SC5D	ORPHA:46059
HP:0000290	Abnormality of the forehead	6309	SC5D	OMIM:607330
HP:0000290	Abnormality of the forehead	340533	NEXMIF	OMIM:300912
HP:0000290	Abnormality of the forehead	51399	TRAPPC4	OMIM:618741
HP:0000290	Abnormality of the forehead	8294	H4C9	OMIM:619951
HP:0000290	Abnormality of the forehead	8216	LZTR1	OMIM:616564
HP:0000290	Abnormality of the forehead	51126	NAA20	OMIM:619717
HP:0000290	Abnormality of the forehead	673	BRAF	OMIM:115150
HP:0000290	Abnormality of the forehead	673	BRAF	OMIM:613707
HP:0000290	Abnormality of the forehead	673	BRAF	OMIM:613706
HP:0000290	Abnormality of the forehead	55627	SMPD4	OMIM:618622
HP:0000290	Abnormality of the forehead	57539	WDR35	OMIM:613610
HP:0000290	Abnormality of the forehead	7360	UGP2	OMIM:618744
HP:0000290	Abnormality of the forehead	4897	NRCAM	OMIM:619833
HP:0000290	Abnormality of the forehead	781	CACNA2D1	OMIM:620149
HP:0000290	Abnormality of the forehead	5932	RBBP8	OMIM:606744
HP:0000290	Abnormality of the forehead	3020	H3-3A	OMIM:619720
HP:0000290	Abnormality of the forehead	51741	WWOX	OMIM:616211
HP:0000290	Abnormality of the forehead	1841	DTYMK	OMIM:619847
HP:0000290	Abnormality of the forehead	84520	GON7	OMIM:619603
HP:0000290	Abnormality of the forehead	23431	AP4E1	OMIM:613744
HP:0000290	Abnormality of the forehead	23431	AP4E1	ORPHA:280763
HP:0000290	Abnormality of the forehead	10978	CLP1	OMIM:615803
HP:0000290	Abnormality of the forehead	79158	GNPTAB	OMIM:252500
HP:0000290	Abnormality of the forehead	26153	KIF26A	OMIM:620156
HP:0000290	Abnormality of the forehead	271	AMPD2	OMIM:615809
HP:0000290	Abnormality of the forehead	4001	LMNB1	OMIM:619179
HP:0000290	Abnormality of the forehead	3190	HNRNPK	OMIM:616580
HP:0000290	Abnormality of the forehead	818	CAMK2G	OMIM:618522
HP:0000290	Abnormality of the forehead	79029	AFG2B	OMIM:619616
HP:0000290	Abnormality of the forehead	816	CAMK2B	OMIM:617799
HP:0000290	Abnormality of the forehead	7994	KAT6A	ORPHA:457193
HP:0000290	Abnormality of the forehead	7994	KAT6A	OMIM:616268
HP:0000290	Abnormality of the forehead	93627	TBCK	OMIM:616900
HP:0000290	Abnormality of the forehead	1717	DHCR7	OMIM:270400
HP:0000290	Abnormality of the forehead	4763	NF1	ORPHA:363700
HP:0000290	Abnormality of the forehead	4330	MN1	OMIM:618774
HP:0000290	Abnormality of the forehead	1656	DDX6	OMIM:618653
HP:0000290	Abnormality of the forehead	4212	MEIS2	OMIM:600987
HP:0000290	Abnormality of the forehead	4212	MEIS2	ORPHA:261190
HP:0000290	Abnormality of the forehead	5528	PPP2R5D	OMIM:616355
HP:0000290	Abnormality of the forehead	833	CARS1	OMIM:618891
HP:0000290	Abnormality of the forehead	8550	MAPKAPK5	OMIM:619869
HP:0000290	Abnormality of the forehead	55012	PPP2R3C	OMIM:618419
HP:0000290	Abnormality of the forehead	2783	GNB2	OMIM:619503
HP:0000290	Abnormality of the forehead	200734	SPRED2	OMIM:619745
HP:0000290	Abnormality of the forehead	6602	SMARCD1	OMIM:618779
HP:0000290	Abnormality of the forehead	8642	DCHS1	OMIM:601390
HP:0000290	Abnormality of the forehead	54084	TSPEAR	OMIM:620173
HP:0000290	Abnormality of the forehead	9653	HS2ST1	OMIM:619194
HP:0000290	Abnormality of the forehead	10717	AP4B1	OMIM:614066
HP:0000290	Abnormality of the forehead	10717	AP4B1	ORPHA:280763
HP:0000290	Abnormality of the forehead	51604	PIGT	OMIM:615398
HP:0000290	Abnormality of the forehead	51604	PIGT	ORPHA:369837
HP:0000290	Abnormality of the forehead	56006	SMG9	OMIM:616920
HP:0000290	Abnormality of the forehead	8239	USP9X	ORPHA:480880
HP:0000290	Abnormality of the forehead	8239	USP9X	OMIM:300968
HP:0000290	Abnormality of the forehead	54499	TMCO1	OMIM:213980
HP:0000290	Abnormality of the forehead	1859	DYRK1A	ORPHA:464311
HP:0000290	Abnormality of the forehead	1859	DYRK1A	OMIM:614104
HP:0000290	Abnormality of the forehead	84992	PIGY	OMIM:616809
HP:0000290	Abnormality of the forehead	51611	DPH5	OMIM:620070
HP:0000290	Abnormality of the forehead	5605	MAP2K2	OMIM:615280
HP:0000290	Abnormality of the forehead	6558	SLC12A2	OMIM:619080
HP:0000290	Abnormality of the forehead	8733	GPAA1	ORPHA:529665
HP:0000290	Abnormality of the forehead	8733	GPAA1	OMIM:617810
HP:0000290	Abnormality of the forehead	5594	MAPK1	OMIM:619087
HP:0000290	Abnormality of the forehead	163175	LGI4	OMIM:617468
HP:0000290	Abnormality of the forehead	6925	TCF4	OMIM:610954
HP:0000290	Abnormality of the forehead	6925	TCF4	ORPHA:2896
HP:0000290	Abnormality of the forehead	51085	MLXIPL	OMIM:194050
HP:0000290	Abnormality of the forehead	2006	ELN	OMIM:194050
HP:0000290	Abnormality of the forehead	55691	FRMD4A	OMIM:616819
HP:0000290	Abnormality of the forehead	55691	FRMD4A	ORPHA:466688
HP:0000290	Abnormality of the forehead	57724	EPG5	OMIM:242840
HP:0000290	Abnormality of the forehead	23556	PIGN	OMIM:614080
HP:0000290	Abnormality of the forehead	546	ATRX	OMIM:309580
HP:0000290	Abnormality of the forehead	55275	VPS53	OMIM:615851
HP:0000290	Abnormality of the forehead	6261	RYR1	ORPHA:324581
HP:0000290	Abnormality of the forehead	3954	LETM1	OMIM:620089
HP:0000290	Abnormality of the forehead	85440	DOCK7	OMIM:615859
HP:0000290	Abnormality of the forehead	85440	DOCK7	ORPHA:411986
HP:0000290	Abnormality of the forehead	92154	MTSS2	OMIM:620086
HP:0000290	Abnormality of the forehead	7546	ZIC2	OMIM:609637
HP:0000290	Abnormality of the forehead	171023	ASXL1	OMIM:605039
HP:0000290	Abnormality of the forehead	10159	ATP6AP2	OMIM:300423
HP:0000290	Abnormality of the forehead	9742	IFT140	OMIM:266920
HP:0000290	Abnormality of the forehead	8260	NAA10	ORPHA:276432
HP:0000290	Abnormality of the forehead	5813	PURA	ORPHA:314655
HP:0000290	Abnormality of the forehead	9488	PIGB	OMIM:618580
HP:0000290	Abnormality of the forehead	84706	GPT2	OMIM:616281
HP:0000290	Abnormality of the forehead	84706	GPT2	ORPHA:477673
HP:0000290	Abnormality of the forehead	91949	COG7	OMIM:608779
HP:0000290	Abnormality of the forehead	23013	SPEN	OMIM:619312
HP:0000290	Abnormality of the forehead	30000	TNPO2	OMIM:619556
HP:0000290	Abnormality of the forehead	9698	PUM1	OMIM:617931
HP:0000290	Abnormality of the forehead	57122	NUP107	OMIM:618348
HP:0000290	Abnormality of the forehead	57122	NUP107	OMIM:616730
HP:0000290	Abnormality of the forehead	55746	NUP133	OMIM:618349
HP:0000290	Abnormality of the forehead	53616	ADAM22	OMIM:617933
HP:0000290	Abnormality of the forehead	7681	MKRN3	OMIM:176270
HP:0000290	Abnormality of the forehead	3653	IPW	OMIM:176270
HP:0000290	Abnormality of the forehead	54551	MAGEL2	OMIM:176270
HP:0000290	Abnormality of the forehead	54551	MAGEL2	OMIM:615547
HP:0000290	Abnormality of the forehead	791114	PWRN1	OMIM:176270
HP:0000290	Abnormality of the forehead	100033413	SNORD116-1	OMIM:176270
HP:0000290	Abnormality of the forehead	8924	HERC2	OMIM:176270
HP:0000290	Abnormality of the forehead	145624	PWAR1	OMIM:176270
HP:0000290	Abnormality of the forehead	23742	NPAP1	OMIM:176270
HP:0000290	Abnormality of the forehead	338433	SNORD115-1	OMIM:176270
HP:0000290	Abnormality of the forehead	3981	LIG4	OMIM:606593
HP:0000290	Abnormality of the forehead	128869	PIGU	OMIM:618590
HP:0000290	Abnormality of the forehead	27125	AFF4	ORPHA:444077
HP:0000290	Abnormality of the forehead	5575	PRKAR1B	OMIM:619680
HP:0000290	Abnormality of the forehead	7707	ZNF148	OMIM:617260
HP:0000290	Abnormality of the forehead	57465	TBC1D24	OMIM:220500
HP:0000290	Abnormality of the forehead	6567	SLC16A2	OMIM:300523
HP:0000290	Abnormality of the forehead	29998	BICRA	OMIM:619325
HP:0000290	Abnormality of the forehead	6651	SON	OMIM:617140
HP:0000290	Abnormality of the forehead	6651	SON	ORPHA:500150
HP:0000290	Abnormality of the forehead	388015	RTL1	ORPHA:254528
HP:0000290	Abnormality of the forehead	8788	DLK1	ORPHA:254528
HP:0000290	Abnormality of the forehead	55384	MEG3	ORPHA:254528
HP:0000290	Abnormality of the forehead	5649	RELN	ORPHA:89844
HP:0000290	Abnormality of the forehead	10300	KATNB1	ORPHA:89844
HP:0000290	Abnormality of the forehead	54820	NDE1	ORPHA:89844
HP:0000290	Abnormality of the forehead	5859	QARS1	OMIM:615760
HP:0000290	Abnormality of the forehead	23030	KDM4B	OMIM:619320
HP:0000290	Abnormality of the forehead	6492	SIM1	ORPHA:171829
HP:0000290	Abnormality of the forehead	998	CDC42	OMIM:616737
HP:0000290	Abnormality of the forehead	998	CDC42	ORPHA:487796
HP:0000290	Abnormality of the forehead	9179	AP4M1	OMIM:612936
HP:0000290	Abnormality of the forehead	9179	AP4M1	ORPHA:280763
HP:0000290	Abnormality of the forehead	90161	HS6ST2	OMIM:301025
HP:0000290	Abnormality of the forehead	22930	RAB3GAP1	OMIM:600118
HP:0000290	Abnormality of the forehead	2530	FUT8	OMIM:618005
HP:0000290	Abnormality of the forehead	23511	NUP188	OMIM:618804
HP:0000290	Abnormality of the forehead	91137	SLC25A46	OMIM:616505
HP:0000290	Abnormality of the forehead	29920	PYCR2	ORPHA:481152
HP:0000290	Abnormality of the forehead	29920	PYCR2	OMIM:616420
HP:0000290	Abnormality of the forehead	51608	GET4	OMIM:620200
HP:0000290	Abnormality of the forehead	23389	MED13L	ORPHA:369891
HP:0000290	Abnormality of the forehead	23389	MED13L	OMIM:616789
HP:0000290	Abnormality of the forehead	1009	CDH11	OMIM:211380
HP:0000290	Abnormality of the forehead	6821	SUOX	OMIM:272300
HP:0000290	Abnormality of the forehead	22827	PUF60	ORPHA:508488
HP:0000290	Abnormality of the forehead	22827	PUF60	OMIM:615583
HP:0000290	Abnormality of the forehead	6792	CDKL5	ORPHA:505652
HP:0000290	Abnormality of the forehead	11342	RNF13	OMIM:618379
HP:0000290	Abnormality of the forehead	11342	RNF13	ORPHA:544503
HP:0000290	Abnormality of the forehead	1822	ATN1	OMIM:618494
HP:0000290	Abnormality of the forehead	25	ABL1	OMIM:617602
HP:0000290	Abnormality of the forehead	51305	KCNK9	ORPHA:166108
HP:0000290	Abnormality of the forehead	51305	KCNK9	OMIM:612292
HP:0000290	Abnormality of the forehead	83696	TRAPPC9	ORPHA:352530
HP:0000290	Abnormality of the forehead	79633	FAT4	OMIM:615546
HP:0000290	Abnormality of the forehead	5723	PSPH	ORPHA:79350
HP:0000290	Abnormality of the forehead	6638	SNRPN	ORPHA:177907
HP:0000290	Abnormality of the forehead	55644	OSGEP	OMIM:617729
HP:0000290	Abnormality of the forehead	26040	SETBP1	ORPHA:798
HP:0000290	Abnormality of the forehead	50801	KCNK4	OMIM:618381
HP:0000290	Abnormality of the forehead	10664	CTCF	ORPHA:363611
HP:0000290	Abnormality of the forehead	57003	CCDC47	OMIM:618268
HP:0000290	Abnormality of the forehead	8270	LAGE3	OMIM:301006
HP:0000290	Abnormality of the forehead	348180	CTU2	OMIM:618142
HP:0000290	Abnormality of the forehead	6711	SPTBN1	OMIM:619475
HP:0000290	Abnormality of the forehead	8405	SPOP	OMIM:618828
HP:0000290	Abnormality of the forehead	80781	COL18A1	OMIM:267750
HP:0000290	Abnormality of the forehead	8567	MADD	OMIM:619004
HP:0000290	Abnormality of the forehead	51124	IER3IP1	OMIM:614231
HP:0000290	Abnormality of the forehead	9326	ZNHIT3	OMIM:260565
HP:0000290	Abnormality of the forehead	55704	CCDC88A	OMIM:617507
HP:0000290	Abnormality of the forehead	5500	PPP1CB	OMIM:617506
HP:0000290	Abnormality of the forehead	57038	RARS2	OMIM:611523
HP:0000290	Abnormality of the forehead	54676	GTPBP2	OMIM:617988
HP:0000290	Abnormality of the forehead	118924	FRA10AC1	OMIM:620113
HP:0000290	Abnormality of the forehead	93587	TRMT10A	ORPHA:391408
HP:0000290	Abnormality of the forehead	84919	PPP1R15B	ORPHA:391408
HP:0000290	Abnormality of the forehead	1759	DNM1	OMIM:620352
HP:0000290	Abnormality of the forehead	139285	AMER1	OMIM:300373
HP:0000290	Abnormality of the forehead	259266	ASPM	OMIM:608716
HP:0000290	Abnormality of the forehead	11154	AP4S1	ORPHA:280763
HP:0000290	Abnormality of the forehead	6904	TBCD	OMIM:617193
HP:0000290	Abnormality of the forehead	650	BMP2	OMIM:617877
HP:0000290	Abnormality of the forehead	1663	DDX11	OMIM:613398
HP:0000290	Abnormality of the forehead	51594	NBAS	OMIM:614800
HP:0000290	Abnormality of the forehead	84700	MYO18B	OMIM:616549
HP:0000290	Abnormality of the forehead	2801	GOLGA2	OMIM:620240
HP:0000290	Abnormality of the forehead	129285	PPP1R21	OMIM:619383
HP:0000290	Abnormality of the forehead	55553	SOX6	OMIM:618971
HP:0000290	Abnormality of the forehead	10844	TUBGCP2	OMIM:618737
HP:0000290	Abnormality of the forehead	4654	MYOD1	OMIM:618975
HP:0000290	Abnormality of the forehead	871	SERPINH1	OMIM:613848
HP:0000290	Abnormality of the forehead	9990	SLC12A6	OMIM:218000
HP:0000290	Abnormality of the forehead	8450	CUL4B	OMIM:300354
HP:0000290	Abnormality of the forehead	324	APC	ORPHA:261584
HP:0000290	Abnormality of the forehead	5296	PIK3R2	ORPHA:83473
HP:0000290	Abnormality of the forehead	10000	AKT3	ORPHA:83473
HP:0000290	Abnormality of the forehead	55503	TRPV6	OMIM:618188
HP:0000290	Abnormality of the forehead	23334	SZT2	OMIM:615476
HP:0000290	Abnormality of the forehead	23334	SZT2	ORPHA:442835
HP:0000290	Abnormality of the forehead	10054	UBA2	OMIM:619959
HP:0000290	Abnormality of the forehead	538	ATP7A	OMIM:304150
HP:0000290	Abnormality of the forehead	538	ATP7A	ORPHA:198
HP:0000290	Abnormality of the forehead	8443	GNPAT	OMIM:222765
HP:0000290	Abnormality of the forehead	116931	MED12L	OMIM:618872
HP:0000290	Abnormality of the forehead	51111	KMT5B	OMIM:617788
HP:0000290	Abnormality of the forehead	129563	DIS3L2	ORPHA:2849
HP:0000290	Abnormality of the forehead	6662	SOX9	OMIM:114290
HP:0000290	Abnormality of the forehead	2590	GALNT2	OMIM:618885
HP:0000290	Abnormality of the forehead	54453	RIN2	OMIM:613075
HP:0000290	Abnormality of the forehead	9739	SETD1A	OMIM:619056
HP:0000290	Abnormality of the forehead	80204	FBXO11	OMIM:618089
HP:0000290	Abnormality of the forehead	64359	NXN	OMIM:618529
HP:0000290	Abnormality of the forehead	81857	MED25	ORPHA:464738
HP:0000290	Abnormality of the forehead	10015	PDCD6IP	OMIM:620047
HP:0000290	Abnormality of the forehead	2697	GJA1	ORPHA:2710
HP:0000290	Abnormality of the forehead	222663	SCUBE3	OMIM:619184
HP:0000290	Abnormality of the forehead	9896	FIG4	ORPHA:3472
HP:0000290	Abnormality of the forehead	55697	VAC14	ORPHA:3472
HP:0000290	Abnormality of the forehead	652	BMP4	OMIM:607932
HP:0000290	Abnormality of the forehead	1500	CTNND1	OMIM:617681
HP:0000290	Abnormality of the forehead	2688	GH1	OMIM:262400
HP:0000290	Abnormality of the forehead	22884	WDR37	OMIM:618652
HP:0000290	Abnormality of the forehead	3737	KCNA2	ORPHA:442835
HP:0000290	Abnormality of the forehead	8120	AP3B2	ORPHA:442835
HP:0000290	Abnormality of the forehead	523	ATP6V1A	ORPHA:442835
HP:0000290	Abnormality of the forehead	10991	SLC38A3	ORPHA:442835
HP:0000290	Abnormality of the forehead	51343	FZR1	ORPHA:442835
HP:0000290	Abnormality of the forehead	22906	TRAK1	ORPHA:442835
HP:0000290	Abnormality of the forehead	2566	GABRG2	ORPHA:442835
HP:0000290	Abnormality of the forehead	1917	EEF1A2	ORPHA:442835
HP:0000290	Abnormality of the forehead	2561	GABRB2	ORPHA:442835
HP:0000290	Abnormality of the forehead	7532	YWHAG	ORPHA:442835
HP:0000290	Abnormality of the forehead	79876	UBA5	ORPHA:442835
HP:0000290	Abnormality of the forehead	6328	SCN3A	ORPHA:442835
HP:0000290	Abnormality of the forehead	2558	GABRA5	ORPHA:442835
HP:0000290	Abnormality of the forehead	2906	GRIN2D	ORPHA:442835
HP:0000290	Abnormality of the forehead	116150	NUS1	ORPHA:442835
HP:0000290	Abnormality of the forehead	10659	CELF2	ORPHA:442835
HP:0000290	Abnormality of the forehead	774	CACNA1B	ORPHA:442835
HP:0000290	Abnormality of the forehead	1213	CLTC	ORPHA:442835
HP:0000290	Abnormality of the forehead	348980	HCN1	ORPHA:442835
HP:0000290	Abnormality of the forehead	6506	SLC1A2	ORPHA:442835
HP:0000290	Abnormality of the forehead	8867	SYNJ1	ORPHA:442835
HP:0000290	Abnormality of the forehead	2258	FGF13	ORPHA:442835
HP:0000290	Abnormality of the forehead	477	ATP1A2	ORPHA:442835
HP:0000290	Abnormality of the forehead	477	ATP1A2	ORPHA:2131
HP:0000290	Abnormality of the forehead	3745	KCNB1	ORPHA:442835
HP:0000290	Abnormality of the forehead	284111	SLC13A5	ORPHA:442835
HP:0000290	Abnormality of the forehead	25977	NECAP1	ORPHA:442835
HP:0000290	Abnormality of the forehead	16	AARS1	ORPHA:442835
HP:0000290	Abnormality of the forehead	6334	SCN8A	ORPHA:442835
HP:0000290	Abnormality of the forehead	22866	CNKSR2	ORPHA:442835
HP:0000290	Abnormality of the forehead	9568	GABBR2	ORPHA:442835
HP:0000290	Abnormality of the forehead	2555	GABRA2	ORPHA:442835
HP:0000290	Abnormality of the forehead	55152	DALRD3	ORPHA:442835
HP:0000290	Abnormality of the forehead	773	CACNA1A	ORPHA:442835
HP:0000290	Abnormality of the forehead	773	CACNA1A	ORPHA:2131
HP:0000290	Abnormality of the forehead	26999	CYFIP2	ORPHA:442835
HP:0000290	Abnormality of the forehead	4915	NTRK2	ORPHA:442835
HP:0000290	Abnormality of the forehead	23097	CDK19	ORPHA:442835
HP:0000290	Abnormality of the forehead	64801	ARV1	ORPHA:442835
HP:0000290	Abnormality of the forehead	79947	DHDDS	ORPHA:442835
HP:0000290	Abnormality of the forehead	2257	FGF12	ORPHA:442835
HP:0000290	Abnormality of the forehead	5530	PPP3CA	ORPHA:442835
HP:0000290	Abnormality of the forehead	478	ATP1A3	ORPHA:442835
HP:0000290	Abnormality of the forehead	478	ATP1A3	ORPHA:2131
HP:0000290	Abnormality of the forehead	5193	PEX12	OMIM:614859
HP:0000290	Abnormality of the forehead	5193	PEX12	ORPHA:44
HP:0000290	Abnormality of the forehead	5193	PEX12	ORPHA:912
HP:0000290	Abnormality of the forehead	1174	AP1S1	OMIM:609313
HP:0000290	Abnormality of the forehead	59341	TRPV4	OMIM:184252
HP:0000290	Abnormality of the forehead	59341	TRPV4	OMIM:156530
HP:0000290	Abnormality of the forehead	59341	TRPV4	ORPHA:2635
HP:0000290	Abnormality of the forehead	54914	FOCAD	OMIM:619991
HP:0000290	Abnormality of the forehead	5048	PAFAH1B1	ORPHA:217385
HP:0000290	Abnormality of the forehead	5048	PAFAH1B1	ORPHA:531
HP:0000290	Abnormality of the forehead	7531	YWHAE	ORPHA:217385
HP:0000290	Abnormality of the forehead	7531	YWHAE	ORPHA:531
HP:0000290	Abnormality of the forehead	5828	PEX2	OMIM:614866
HP:0000290	Abnormality of the forehead	5828	PEX2	ORPHA:44
HP:0000290	Abnormality of the forehead	5828	PEX2	ORPHA:912
HP:0000290	Abnormality of the forehead	6507	SLC1A3	ORPHA:2131
HP:0000290	Abnormality of the forehead	8626	TP63	OMIM:129400
HP:0000290	Abnormality of the forehead	55210	ATAD3A	ORPHA:496790
HP:0000290	Abnormality of the forehead	55210	ATAD3A	OMIM:617183
HP:0000290	Abnormality of the forehead	54928	BPNT2	OMIM:614078
HP:0000290	Abnormality of the forehead	51098	IFT52	OMIM:617102
HP:0000290	Abnormality of the forehead	6942	TCF20	OMIM:618430
HP:0000290	Abnormality of the forehead	55670	PEX26	OMIM:614872
HP:0000290	Abnormality of the forehead	55670	PEX26	ORPHA:44
HP:0000290	Abnormality of the forehead	55670	PEX26	ORPHA:912
HP:0000290	Abnormality of the forehead	3187	HNRNPH1	OMIM:620083
HP:0000290	Abnormality of the forehead	5824	PEX19	ORPHA:44
HP:0000290	Abnormality of the forehead	5824	PEX19	ORPHA:912
HP:0000290	Abnormality of the forehead	9409	PEX16	ORPHA:44
HP:0000290	Abnormality of the forehead	9409	PEX16	ORPHA:912
HP:0000290	Abnormality of the forehead	8799	PEX11B	ORPHA:44
HP:0000290	Abnormality of the forehead	8799	PEX11B	ORPHA:912
HP:0000290	Abnormality of the forehead	5194	PEX13	ORPHA:44
HP:0000290	Abnormality of the forehead	5194	PEX13	OMIM:614883
HP:0000290	Abnormality of the forehead	5194	PEX13	ORPHA:912
HP:0000290	Abnormality of the forehead	5195	PEX14	ORPHA:44
HP:0000290	Abnormality of the forehead	5195	PEX14	OMIM:614887
HP:0000290	Abnormality of the forehead	5195	PEX14	ORPHA:912
HP:0000290	Abnormality of the forehead	5192	PEX10	ORPHA:44
HP:0000290	Abnormality of the forehead	5192	PEX10	ORPHA:912
HP:0000290	Abnormality of the forehead	4123	MAN2C1	OMIM:619775
HP:0000290	Abnormality of the forehead	84876	ORAI1	ORPHA:3204
HP:0000290	Abnormality of the forehead	6786	STIM1	ORPHA:3204
HP:0000290	Abnormality of the forehead	55023	PHIP	ORPHA:589905
HP:0000290	Abnormality of the forehead	55023	PHIP	OMIM:617991
HP:0000290	Abnormality of the forehead	51013	EXOSC1	OMIM:619304
HP:0000290	Abnormality of the forehead	51053	GMNN	OMIM:616835
HP:0000290	Abnormality of the forehead	7319	UBE2A	ORPHA:163956
HP:0000290	Abnormality of the forehead	10075	HUWE1	OMIM:309590
HP:0000290	Abnormality of the forehead	4088	SMAD3	ORPHA:284984
HP:0000290	Abnormality of the forehead	10785	WDR4	OMIM:618346
HP:0000290	Abnormality of the forehead	1349	COX7B	OMIM:300887
HP:0000290	Abnormality of the forehead	3097	HIVEP2	OMIM:616977
HP:0000290	Abnormality of the forehead	23729	SHPK	ORPHA:440713
HP:0000290	Abnormality of the forehead	51114	ZDHHC9	ORPHA:776
HP:0000290	Abnormality of the forehead	537	ATP6AP1	OMIM:300972
HP:0000290	Abnormality of the forehead	63035	BCORL1	OMIM:301029
HP:0000290	Abnormality of the forehead	55764	IFT122	OMIM:218330
HP:0000290	Abnormality of the forehead	27031	NPHP3	OMIM:267010
HP:0000290	Abnormality of the forehead	22808	MRAS	OMIM:618499
HP:0000290	Abnormality of the forehead	22808	MRAS	ORPHA:648
HP:0000290	Abnormality of the forehead	9758	FRMPD4	OMIM:300983
HP:0000290	Abnormality of the forehead	9419	CRIPT	OMIM:615789
HP:0000290	Abnormality of the forehead	2313	FLI1	ORPHA:2308
HP:0000290	Abnormality of the forehead	4758	NEU1	ORPHA:93400
HP:0000290	Abnormality of the forehead	7737	RNF113A	OMIM:300953
HP:0000290	Abnormality of the forehead	4329	ALDH6A1	OMIM:614105
HP:0000290	Abnormality of the forehead	4534	MTM1	OMIM:310400
HP:0000290	Abnormality of the forehead	5293	PIK3CD	ORPHA:221139
HP:0000290	Abnormality of the forehead	90417	KNSTRN	ORPHA:221139
HP:0000290	Abnormality of the forehead	11198	SUPT16H	OMIM:619480
HP:0000290	Abnormality of the forehead	10651	MTX2	OMIM:619127
HP:0000290	Abnormality of the forehead	4190	MDH1	OMIM:618959
HP:0000290	Abnormality of the forehead	3090	HIC1	ORPHA:531
HP:0000290	Abnormality of the forehead	4781	NFIB	OMIM:618286
HP:0000290	Abnormality of the forehead	25974	MMACHC	ORPHA:79282
HP:0000290	Abnormality of the forehead	25974	MMACHC	OMIM:277400
HP:0000290	Abnormality of the forehead	3295	HSD17B4	OMIM:261515
HP:0000290	Abnormality of the forehead	5430	POLR2A	OMIM:618603
HP:0000290	Abnormality of the forehead	22800	RRAS2	ORPHA:648
HP:0000290	Abnormality of the forehead	6016	RIT1	ORPHA:648
HP:0000290	Abnormality of the forehead	6237	RRAS	ORPHA:648
HP:0000290	Abnormality of the forehead	6655	SOS2	ORPHA:648
HP:0000290	Abnormality of the forehead	5922	RASA2	ORPHA:648
HP:0000290	Abnormality of the forehead	2036	EPB41L1	OMIM:614257
HP:0000290	Abnormality of the forehead	2108	ETFA	OMIM:231680
HP:0000290	Abnormality of the forehead	2109	ETFB	OMIM:231680
HP:0000290	Abnormality of the forehead	2110	ETFDH	OMIM:231680
HP:0000290	Abnormality of the forehead	2690	GHR	ORPHA:633
HP:0000290	Abnormality of the forehead	5052	PRDX1	OMIM:277400
HP:0000290	Abnormality of the forehead	1947	EFNB1	OMIM:304110
HP:0000290	Abnormality of the forehead	1947	EFNB1	ORPHA:1520
HP:0000290	Abnormality of the forehead	55027	HEATR3	OMIM:620072
HP:0000290	Abnormality of the forehead	257	ALX3	OMIM:136760
HP:0000290	Abnormality of the forehead	257	ALX3	ORPHA:391474
HP:0000290	Abnormality of the forehead	6857	SYT1	ORPHA:522077
HP:0000290	Abnormality of the forehead	10220	GDF11	OMIM:619122
HP:0000290	Abnormality of the forehead	473	RERE	OMIM:616975
HP:0000290	Abnormality of the forehead	22907	DHX30	OMIM:617804
HP:0000290	Abnormality of the forehead	6304	SATB1	OMIM:619229
HP:0000290	Abnormality of the forehead	7020	TFAP2A	OMIM:113620
HP:0000290	Abnormality of the forehead	55768	NGLY1	OMIM:615273
HP:0000290	Abnormality of the forehead	8242	KDM5C	OMIM:300534
HP:0000290	Abnormality of the forehead	55081	IFT57	OMIM:617927
HP:0000290	Abnormality of the forehead	1020	CDK5	OMIM:616342
HP:0000290	Abnormality of the forehead	10466	COG5	ORPHA:263487
HP:0000290	Abnormality of the forehead	5286	PIK3C2A	ORPHA:557003
HP:0000290	Abnormality of the forehead	9949	AMMECR1	OMIM:300990
HP:0000290	Abnormality of the forehead	55217	TMLHE	OMIM:300872
HP:0000290	Abnormality of the forehead	57551	TAOK1	OMIM:619575
HP:0000290	Abnormality of the forehead	55898	UNC45A	OMIM:619377
HP:0000290	Abnormality of the forehead	54941	RNF125	OMIM:616260
HP:0000290	Abnormality of the forehead	2332	FMR1	ORPHA:908
HP:0000290	Abnormality of the forehead	2332	FMR1	OMIM:300624
HP:0000290	Abnormality of the forehead	114034	TOE1	OMIM:614969
HP:0000290	Abnormality of the forehead	5457	POU4F1	ORPHA:314647
HP:0000290	Abnormality of the forehead	23261	CAMTA1	ORPHA:314647
HP:0000290	Abnormality of the forehead	23261	CAMTA1	OMIM:614756
HP:0000290	Abnormality of the forehead	84570	COL25A1	ORPHA:91411
HP:0000290	Abnormality of the forehead	79776	ZFHX4	ORPHA:91411
HP:0000290	Abnormality of the forehead	285362	SUMF1	OMIM:272200
HP:0000290	Abnormality of the forehead	2316	FLNA	OMIM:300321
HP:0000290	Abnormality of the forehead	221496	LEMD2	OMIM:619322
HP:0000290	Abnormality of the forehead	92335	STRADA	OMIM:611087
HP:0000290	Abnormality of the forehead	5144	PDE4D	ORPHA:439822
HP:0000290	Abnormality of the forehead	4010	LMX1B	ORPHA:495818
HP:0000290	Abnormality of the forehead	6812	STXBP1	ORPHA:495818
HP:0000290	Abnormality of the forehead	65082	VPS33A	OMIM:617303
HP:0000290	Abnormality of the forehead	4953	ODC1	ORPHA:544488
HP:0000290	Abnormality of the forehead	196528	ARID2	OMIM:617808
HP:0000290	Abnormality of the forehead	5728	PTEN	ORPHA:79076
HP:0000290	Abnormality of the forehead	657	BMPR1A	ORPHA:79076
HP:0000290	Abnormality of the forehead	6714	SRC	OMIM:616937
HP:0000290	Abnormality of the forehead	2137	EXTL3	ORPHA:508533
HP:0000290	Abnormality of the forehead	1497	CTNS	OMIM:219800
HP:0000290	Abnormality of the forehead	11253	MAN1B1	ORPHA:397941
HP:0000290	Abnormality of the forehead	1139	CHRNA7	ORPHA:199318
HP:0000290	Abnormality of the forehead	83932	SPRTN	OMIM:616200
HP:0000290	Abnormality of the forehead	9786	KIAA0586	ORPHA:397715
HP:0000290	Abnormality of the forehead	267010	RNU12	OMIM:603116
HP:0000290	Abnormality of the forehead	8942	KYNU	OMIM:617661
HP:0000290	Abnormality of the forehead	55790	CSGALNACT1	OMIM:618870
HP:0000290	Abnormality of the forehead	2201	FBN2	OMIM:121050
HP:0000290	Abnormality of the forehead	4286	MITF	OMIM:617306
HP:0000290	Abnormality of the forehead	120227	CYP2R1	OMIM:600081
HP:0000290	Abnormality of the forehead	120227	CYP2R1	ORPHA:289157
HP:0000290	Abnormality of the forehead	112752	IFT43	ORPHA:1515
HP:0000290	Abnormality of the forehead	112752	IFT43	OMIM:614099
HP:0000290	Abnormality of the forehead	57728	WDR19	ORPHA:1515
HP:0000290	Abnormality of the forehead	57728	WDR19	OMIM:614378
HP:0000290	Abnormality of the forehead	50964	SOST	ORPHA:1513
HP:0000290	Abnormality of the forehead	50964	SOST	OMIM:269500
HP:0000290	Abnormality of the forehead	6660	SOX5	ORPHA:313892
HP:0000290	Abnormality of the forehead	6660	SOX5	OMIM:616803
HP:0000290	Abnormality of the forehead	54	ACP5	OMIM:607944
HP:0000290	Abnormality of the forehead	1513	CTSK	OMIM:265800
HP:0000290	Abnormality of the forehead	1513	CTSK	ORPHA:763
HP:0000290	Abnormality of the forehead	5191	PEX7	OMIM:215100
HP:0000290	Abnormality of the forehead	2035	EPB41	ORPHA:288
HP:0000290	Abnormality of the forehead	2995	GYPC	ORPHA:288
HP:0000290	Abnormality of the forehead	6710	SPTB	ORPHA:288
HP:0000290	Abnormality of the forehead	6708	SPTA1	ORPHA:288
HP:0000290	Abnormality of the forehead	1105	CHD1	OMIM:617682
HP:0000290	Abnormality of the forehead	1105	CHD1	ORPHA:529965
HP:0000290	Abnormality of the forehead	1594	CYP27B1	OMIM:264700
HP:0000290	Abnormality of the forehead	1594	CYP27B1	ORPHA:289157
HP:0000290	Abnormality of the forehead	1301	COL11A1	OMIM:228520
HP:0000290	Abnormality of the forehead	1301	COL11A1	ORPHA:440354
HP:0000290	Abnormality of the forehead	1301	COL11A1	ORPHA:560
HP:0000290	Abnormality of the forehead	55623	THUMPD1	OMIM:619989
HP:0000290	Abnormality of the forehead	26038	CHD5	OMIM:619873
HP:0000290	Abnormality of the forehead	5034	P4HB	OMIM:112240
HP:0000290	Abnormality of the forehead	5034	P4HB	ORPHA:2050
HP:0000290	Abnormality of the forehead	3043	HBB	ORPHA:231214
HP:0000290	Abnormality of the forehead	3043	HBB	ORPHA:231226
HP:0000290	Abnormality of the forehead	142680	SLC34A3	OMIM:241530
HP:0000290	Abnormality of the forehead	57167	SALL4	OMIM:147750
HP:0000290	Abnormality of the forehead	92609	TIMM50	OMIM:617698
HP:0000290	Abnormality of the forehead	3098	HK1	OMIM:618547
HP:0000290	Abnormality of the forehead	5590	PRKCZ	ORPHA:1606
HP:0000290	Abnormality of the forehead	2563	GABRD	ORPHA:1606
HP:0000290	Abnormality of the forehead	8510	MMP23B	ORPHA:1606
HP:0000290	Abnormality of the forehead	7798	LUZP1	ORPHA:1606
HP:0000290	Abnormality of the forehead	10630	PDPN	ORPHA:1606
HP:0000290	Abnormality of the forehead	10277	UBE4B	ORPHA:1606
HP:0000290	Abnormality of the forehead	8514	KCNAB2	ORPHA:1606
HP:0000290	Abnormality of the forehead	63976	PRDM16	ORPHA:1606
HP:0000290	Abnormality of the forehead	54897	CASZ1	ORPHA:1606
HP:0000290	Abnormality of the forehead	8314	BAP1	OMIM:619762
HP:0000290	Abnormality of the forehead	83479	DDX59	ORPHA:2919
HP:0000290	Abnormality of the forehead	83479	DDX59	OMIM:174300
HP:0000290	Abnormality of the forehead	2271	FH	OMIM:606812
HP:0000290	Abnormality of the forehead	8643	PTCH2	ORPHA:377
HP:0000290	Abnormality of the forehead	51684	SUFU	ORPHA:377
HP:0000290	Abnormality of the forehead	51684	SUFU	OMIM:617757
HP:0000290	Abnormality of the forehead	23007	PLCH1	OMIM:619895
HP:0000290	Abnormality of the forehead	249	ALPL	OMIM:241510
HP:0000290	Abnormality of the forehead	79989	IFT56	OMIM:619534
HP:0000290	Abnormality of the forehead	2720	GLB1	OMIM:230500
HP:0000290	Abnormality of the forehead	2720	GLB1	ORPHA:79255
HP:0000290	Abnormality of the forehead	1749	DLX5	OMIM:220600
HP:0000290	Abnormality of the forehead	26173	INTS1	OMIM:618571
HP:0000290	Abnormality of the forehead	7227	TRPS1	ORPHA:77258
HP:0000290	Abnormality of the forehead	4921	DDR2	OMIM:271665
HP:0000290	Abnormality of the forehead	54892	NCAPG2	OMIM:618460
HP:0000290	Abnormality of the forehead	1277	COL1A1	OMIM:259420
HP:0000290	Abnormality of the forehead	1278	COL1A2	OMIM:259420
HP:0000290	Abnormality of the forehead	29887	SNX10	OMIM:615085
HP:0000290	Abnormality of the forehead	1747	DLX3	OMIM:190320
HP:0000290	Abnormality of the forehead	1747	DLX3	ORPHA:3352
HP:0000290	Abnormality of the forehead	9871	SEC24D	OMIM:616294
HP:0000290	Abnormality of the forehead	9871	SEC24D	ORPHA:2050
HP:0000290	Abnormality of the forehead	4952	OCRL	ORPHA:534
HP:0000290	Abnormality of the forehead	2710	GK	OMIM:307030
HP:0000290	Abnormality of the forehead	4998	ORC1	OMIM:224690
HP:0000290	Abnormality of the forehead	10082	GPC6	OMIM:258315
HP:0000290	Abnormality of the forehead	10082	GPC6	ORPHA:93329
HP:0000290	Abnormality of the forehead	116442	RAB39B	OMIM:311510
HP:0000290	Abnormality of the forehead	116442	RAB39B	ORPHA:2379
HP:0000290	Abnormality of the forehead	23258	DENND5A	OMIM:617281
HP:0000290	Abnormality of the forehead	9496	TBX4	ORPHA:261279
HP:0000290	Abnormality of the forehead	23592	LEMD3	ORPHA:94063
HP:0000290	Abnormality of the forehead	10013	HDAC6	OMIM:300863
HP:0000290	Abnormality of the forehead	10013	HDAC6	ORPHA:163966
HP:0000290	Abnormality of the forehead	633	BGN	OMIM:300989
HP:0000290	Abnormality of the forehead	3977	LIFR	OMIM:601559
HP:0000290	Abnormality of the forehead	4990	SIX6	OMIM:206900
HP:0000290	Abnormality of the forehead	6657	SOX2	OMIM:206900
HP:0000290	Abnormality of the forehead	10526	IPO8	OMIM:619472
HP:0000290	Abnormality of the forehead	23405	DICER1	OMIM:618272
HP:0000290	Abnormality of the forehead	1298	COL9A2	OMIM:600204
HP:0000290	Abnormality of the forehead	4841	NONO	OMIM:300967
HP:0000290	Abnormality of the forehead	4841	NONO	ORPHA:466791
HP:0000290	Abnormality of the forehead	55599	RNPC3	OMIM:618160
HP:0000290	Abnormality of the forehead	23387	SIK3	OMIM:618162
HP:0000290	Abnormality of the forehead	1984	EIF5A	OMIM:619376
HP:0000290	Abnormality of the forehead	89970	RSPRY1	ORPHA:457395
HP:0000290	Abnormality of the forehead	89970	RSPRY1	OMIM:616723
HP:0000290	Abnormality of the forehead	8481	OFD1	OMIM:300804
HP:0000290	Abnormality of the forehead	8481	OFD1	OMIM:311200
HP:0000290	Abnormality of the forehead	8481	OFD1	ORPHA:2750
HP:0000290	Abnormality of the forehead	8481	OFD1	ORPHA:2754
HP:0000290	Abnormality of the forehead	83737	ITCH	ORPHA:228426
HP:0000290	Abnormality of the forehead	83737	ITCH	OMIM:613385
HP:0000290	Abnormality of the forehead	55181	SMG8	OMIM:619268
HP:0000290	Abnormality of the forehead	27161	AGO2	OMIM:619149
HP:0000290	Abnormality of the forehead	7421	VDR	ORPHA:93160
HP:0000290	Abnormality of the forehead	7421	VDR	OMIM:277440
HP:0000290	Abnormality of the forehead	10312	TCIRG1	OMIM:259700
HP:0000290	Abnormality of the forehead	775	CACNA1C	OMIM:620029
HP:0000290	Abnormality of the forehead	5447	POR	ORPHA:95699
HP:0000290	Abnormality of the forehead	5447	POR	OMIM:201750
HP:0000290	Abnormality of the forehead	5447	POR	OMIM:207410
HP:0000290	Abnormality of the forehead	55112	DYNC2I1	ORPHA:93271
HP:0000290	Abnormality of the forehead	57560	IFT80	ORPHA:93271
HP:0000290	Abnormality of the forehead	79659	DYNC2H1	ORPHA:93271
HP:0000290	Abnormality of the forehead	89891	DYNC2I2	ORPHA:93271
HP:0000290	Abnormality of the forehead	9442	MED27	OMIM:619286
HP:0000290	Abnormality of the forehead	5744	PTHLH	ORPHA:93387
HP:0000290	Abnormality of the forehead	3239	HOXD13	ORPHA:93387
HP:0000290	Abnormality of the forehead	51360	MBTPS2	ORPHA:2273
HP:0000290	Abnormality of the forehead	9377	COX5A	OMIM:619064
HP:0000290	Abnormality of the forehead	9839	ZEB2	ORPHA:261552
HP:0000290	Abnormality of the forehead	1327	COX4I1	OMIM:619060
HP:0000290	Abnormality of the forehead	10682	EBP	ORPHA:35173
HP:0000290	Abnormality of the forehead	10682	EBP	OMIM:302960
HP:0000290	Abnormality of the forehead	4591	TRIM37	OMIM:253250
HP:0000290	Abnormality of the forehead	4338	MOCS2	OMIM:252160
HP:0000290	Abnormality of the forehead	3425	IDUA	OMIM:607014
HP:0000290	Abnormality of the forehead	3425	IDUA	ORPHA:93473
HP:0000290	Abnormality of the forehead	5251	PHEX	ORPHA:89936
HP:0000290	Abnormality of the forehead	5251	PHEX	OMIM:307800
HP:0000290	Abnormality of the forehead	23137	SMC5	OMIM:620185
HP:0000290	Abnormality of the forehead	4221	MEN1	ORPHA:99725
HP:0000290	Abnormality of the forehead	114548	NLRP3	OMIM:607115
HP:0000290	Abnormality of the forehead	114548	NLRP3	ORPHA:1451
HP:0000290	Abnormality of the forehead	10661	KLF1	OMIM:613673
HP:0000290	Abnormality of the forehead	729920	CRPPA	OMIM:614643
HP:0000290	Abnormality of the forehead	1302	COL11A2	OMIM:614524
HP:0000290	Abnormality of the forehead	1836	SLC26A2	ORPHA:93298
HP:0000290	Abnormality of the forehead	4313	MMP2	OMIM:259600
HP:0000290	Abnormality of the forehead	1186	CLCN7	ORPHA:53
HP:0000290	Abnormality of the forehead	91252	SLC39A13	OMIM:612350
HP:0000290	Abnormality of the forehead	132	ADK	OMIM:614300
HP:0000290	Abnormality of the forehead	9759	HDAC4	ORPHA:1001
HP:0000290	Abnormality of the forehead	79650	USB1	OMIM:604173
HP:0000290	Abnormality of the forehead	5160	PDHA1	OMIM:312170
HP:0000290	Abnormality of the forehead	4792	NFKBIA	OMIM:612132
HP:0000290	Abnormality of the forehead	29940	DSE	OMIM:615539
HP:0000290	Abnormality of the forehead	8517	IKBKG	OMIM:300291
HP:0000290	Abnormality of the forehead	176	ACAN	OMIM:165800
HP:0000290	Abnormality of the forehead	4337	MOCS1	OMIM:252150
HP:0000290	Abnormality of the forehead	51520	LARS1	OMIM:615438
HP:0000290	Abnormality of the forehead	7040	TGFB1	ORPHA:1328
HP:0000290	Abnormality of the forehead	23545	ATP6V0A2	OMIM:219200
HP:0000290	Abnormality of the forehead	284252	KCTD1	OMIM:181270
HP:0000290	Abnormality of the forehead	60401	EDA2R	ORPHA:181
HP:0000290	Abnormality of the forehead	6519	SLC3A1	ORPHA:163690
HP:0000290	Abnormality of the forehead	6519	SLC3A1	ORPHA:163693
HP:0000290	Abnormality of the forehead	9581	PREPL	ORPHA:163690
HP:0000290	Abnormality of the forehead	9581	PREPL	ORPHA:163693
HP:0000290	Abnormality of the forehead	84628	NTNG2	OMIM:618718
HP:0000290	Abnormality of the forehead	113246	C12orf57	OMIM:218340
HP:0000290	Abnormality of the forehead	5495	PPM1B	ORPHA:163693
HP:0000290	Abnormality of the forehead	79823	CAMKMT	ORPHA:163693
HP:0000290	Abnormality of the forehead	51	ACOX1	OMIM:264470
HP:0000290	Abnormality of the forehead	23247	KATNIP	OMIM:616784
HP:0000290	Abnormality of the forehead	8777	MPDZ	OMIM:615219
HP:0000290	Abnormality of the forehead	9757	KMT2B	OMIM:619934
HP:0000290	Abnormality of the forehead	10210	TOPORS	ORPHA:2754
HP:0000290	Abnormality of the forehead	5147	PDE6D	ORPHA:2754
HP:0000290	Abnormality of the forehead	65250	CPLANE1	ORPHA:2754
HP:0000290	Abnormality of the forehead	55252	ASXL2	OMIM:617190
HP:0000290	Abnormality of the forehead	8367	H4C5	OMIM:619950
HP:0000290	Abnormality of the forehead	112858	TP53RK	OMIM:617730
HP:0000290	Abnormality of the forehead	92255	LMBRD2	OMIM:619694
HP:0000290	Abnormality of the forehead	340419	RSPO2	OMIM:618022
HP:0000290	Abnormality of the forehead	54517	PUS7	OMIM:618342
HP:0000290	Abnormality of the forehead	8092	ALX1	OMIM:613456
HP:0000290	Abnormality of the forehead	8813	DPM1	ORPHA:79322
HP:0000290	Abnormality of the forehead	55656	INTS8	OMIM:618572
HP:0000290	Abnormality of the forehead	53834	FGFRL1	OMIM:194190
HP:0000290	Abnormality of the forehead	1487	CTBP1	OMIM:194190
HP:0000290	Abnormality of the forehead	10815	CPLX1	OMIM:194190
HP:0000290	Abnormality of the forehead	60482	SLC5A7	ORPHA:98914
HP:0000290	Abnormality of the forehead	4649	MYO9A	ORPHA:98914
HP:0000290	Abnormality of the forehead	1305	COL13A1	ORPHA:98914
HP:0000290	Abnormality of the forehead	1103	CHAT	ORPHA:98914
HP:0000290	Abnormality of the forehead	6576	SLC25A1	ORPHA:98914
HP:0000290	Abnormality of the forehead	6843	VAMP1	ORPHA:98914
HP:0000290	Abnormality of the forehead	375790	AGRN	ORPHA:98914
HP:0000290	Abnormality of the forehead	127833	SYT2	ORPHA:98914
HP:0000290	Abnormality of the forehead	6572	SLC18A3	ORPHA:98914
HP:0000290	Abnormality of the forehead	6616	SNAP25	ORPHA:98914
HP:0000290	Abnormality of the forehead	1371	CPOX	ORPHA:79273
HP:0000290	Abnormality of the forehead	80144	FRAS1	OMIM:219000
HP:0000290	Abnormality of the forehead	10484	SEC23A	OMIM:607812
HP:0000290	Abnormality of the forehead	3192	HNRNPU	ORPHA:238769
HP:0000290	Abnormality of the forehead	158	ADSL	OMIM:103050
HP:0000290	Abnormality of the forehead	158	ADSL	ORPHA:46
HP:0000290	Abnormality of the forehead	5518	PPP2R1A	OMIM:616362
HP:0000290	Abnormality of the forehead	5518	PPP2R1A	ORPHA:457284
HP:0000290	Abnormality of the forehead	104	ADARB1	OMIM:618862
HP:0000290	Abnormality of the forehead	2290	FOXG1	ORPHA:261144
HP:0000290	Abnormality of the forehead	10765	KDM5B	OMIM:618109
HP:0000290	Abnormality of the forehead	79796	ALG9	ORPHA:79328
HP:0000290	Abnormality of the forehead	4094	MAF	ORPHA:1272
HP:0000290	Abnormality of the forehead	3767	KCNJ11	ORPHA:79134
HP:0000290	Abnormality of the forehead	3767	KCNJ11	ORPHA:99885
HP:0000290	Abnormality of the forehead	3767	KCNJ11	OMIM:618856
HP:0000290	Abnormality of the forehead	79731	NARS2	ORPHA:79134
HP:0000290	Abnormality of the forehead	6833	ABCC8	ORPHA:79134
HP:0000290	Abnormality of the forehead	6833	ABCC8	ORPHA:99885
HP:0000290	Abnormality of the forehead	2645	GCK	ORPHA:99885
HP:0000290	Abnormality of the forehead	3651	PDX1	ORPHA:99885
HP:0000290	Abnormality of the forehead	3630	INS	ORPHA:99885
HP:0000290	Abnormality of the forehead	4131	MAP1B	OMIM:618918
HP:0000290	Abnormality of the forehead	10984	KCNQ1OT1	OMIM:130650
HP:0000290	Abnormality of the forehead	3784	KCNQ1	OMIM:130650
HP:0000290	Abnormality of the forehead	2068	ERCC2	ORPHA:1466
HP:0000290	Abnormality of the forehead	2067	ERCC1	ORPHA:1466
HP:0000290	Abnormality of the forehead	2073	ERCC5	ORPHA:1466
HP:0000290	Abnormality of the forehead	84081	NSRP1	OMIM:620001
HP:0000290	Abnormality of the forehead	71	ACTG1	ORPHA:2995
HP:0000290	Abnormality of the forehead	60	ACTB	ORPHA:2995
HP:0000290	Abnormality of the forehead	23116	TOGARAM1	OMIM:619185
HP:0000290	Abnormality of the forehead	92949	ADAMTSL1	ORPHA:521445
HP:0000290	Abnormality of the forehead	4854	NOTCH3	ORPHA:2789
HP:0000290	Abnormality of the forehead	27152	INTU	OMIM:617926
HP:0000290	Abnormality of the forehead	58499	ZNF462	OMIM:618619
HP:0000290	Abnormality of the forehead	990	CDC6	OMIM:613805
HP:0000290	Abnormality of the forehead	8812	CCNK	OMIM:618147
HP:0000290	Abnormality of the forehead	6608	SMO	OMIM:601707
HP:0000290	Abnormality of the forehead	29926	GMPPA	OMIM:615510
HP:0000290	Abnormality of the forehead	54361	WNT4	ORPHA:247768
HP:0000290	Abnormality of the forehead	3008	H1-4	OMIM:617537
HP:0000290	Abnormality of the forehead	3703	STT3A	OMIM:619714
HP:0000290	Abnormality of the forehead	5189	PEX1	ORPHA:3220
HP:0000290	Abnormality of the forehead	5190	PEX6	ORPHA:3220
HP:0000290	Abnormality of the forehead	10283	CWC27	OMIM:250410
HP:0000290	Abnormality of the forehead	79718	TBL1XR1	OMIM:602342
HP:0000290	Abnormality of the forehead	79718	TBL1XR1	ORPHA:487825
HP:0000290	Abnormality of the forehead	10525	HYOU1	OMIM:233600
HP:0000290	Abnormality of the forehead	999	CDH1	OMIM:119580
HP:0000290	Abnormality of the forehead	84679	SLC9A7	OMIM:301024
HP:0000290	Abnormality of the forehead	55906	ZC4H2	OMIM:314580
HP:0000290	Abnormality of the forehead	1748	DLX4	OMIM:616788
HP:0000290	Abnormality of the forehead	54872	PIGG	ORPHA:280
HP:0000290	Abnormality of the forehead	7469	NELFA	ORPHA:280
HP:0000290	Abnormality of the forehead	5587	PRKD1	OMIM:617364
HP:0000290	Abnormality of the forehead	4858	NOVA2	OMIM:618859
HP:0000290	Abnormality of the forehead	25871	NEPRO	OMIM:618853
HP:0000290	Abnormality of the forehead	26057	ANKRD17	OMIM:619504
HP:0000290	Abnormality of the forehead	6654	SOS1	OMIM:610733
HP:0000290	Abnormality of the forehead	10128	LRPPRC	OMIM:220111
HP:0000290	Abnormality of the forehead	2077	ERF	OMIM:600775
HP:0000290	Abnormality of the forehead	28981	IFT81	OMIM:617895
HP:0000290	Abnormality of the forehead	23135	KDM6B	OMIM:618505
HP:0000290	Abnormality of the forehead	7291	TWIST1	OMIM:123100
HP:0000290	Abnormality of the forehead	5894	RAF1	OMIM:611553
HP:0000290	Abnormality of the forehead	145173	B3GLCT	ORPHA:709
HP:0000290	Abnormality of the forehead	145173	B3GLCT	OMIM:261540
HP:0000290	Abnormality of the forehead	64324	NSD1	ORPHA:821
HP:0000290	Abnormality of the forehead	64324	NSD1	OMIM:117550
HP:0000290	Abnormality of the forehead	29072	SETD2	ORPHA:821
HP:0000290	Abnormality of the forehead	29072	SETD2	OMIM:616831
HP:0000290	Abnormality of the forehead	10297	APC2	ORPHA:821
HP:0000290	Abnormality of the forehead	4125	MAN2B1	ORPHA:309282
HP:0000290	Abnormality of the forehead	3481	IGF2	ORPHA:231140
HP:0000290	Abnormality of the forehead	3481	IGF2	ORPHA:231144
HP:0000290	Abnormality of the forehead	3481	IGF2	OMIM:616489
HP:0000290	Abnormality of the forehead	3481	IGF2	ORPHA:397590
HP:0000290	Abnormality of the forehead	283120	H19	ORPHA:231140
HP:0000290	Abnormality of the forehead	283120	H19	ORPHA:231144
HP:0000290	Abnormality of the forehead	4983	OPHN1	OMIM:300486
HP:0000290	Abnormality of the forehead	4281	MID1	OMIM:300000
HP:0000290	Abnormality of the forehead	4281	MID1	ORPHA:2745
HP:0000290	Abnormality of the forehead	3021	H3-3B	OMIM:619721
HP:0000290	Abnormality of the forehead	7552	ZNF711	OMIM:300803
HP:0000290	Abnormality of the forehead	10026	PIGK	OMIM:618879
HP:0000290	Abnormality of the forehead	5830	PEX5	OMIM:202370
HP:0000290	Abnormality of the forehead	79639	TMEM53	OMIM:619727
HP:0000290	Abnormality of the forehead	5184	PEPD	OMIM:170100
HP:0000290	Abnormality of the forehead	55904	KMT2E	OMIM:618512
HP:0000290	Abnormality of the forehead	2132	EXT2	ORPHA:466926
HP:0000290	Abnormality of the forehead	23384	SPECC1L	ORPHA:1519
HP:0000290	Abnormality of the forehead	23384	SPECC1L	OMIM:145420
HP:0000290	Abnormality of the forehead	9915	ARNT2	OMIM:615926
HP:0000290	Abnormality of the forehead	55780	ERMARD	ORPHA:75857
HP:0000290	Abnormality of the forehead	10472	ZBTB18	ORPHA:36367
HP:0000290	Abnormality of the forehead	10472	ZBTB18	OMIM:612337
HP:0000290	Abnormality of the forehead	6197	RPS6KA3	OMIM:303600
HP:0000290	Abnormality of the forehead	6197	RPS6KA3	OMIM:300844
HP:0000290	Abnormality of the forehead	1896	EDA	OMIM:305100
HP:0000290	Abnormality of the forehead	6023	RMRP	ORPHA:175
HP:0000290	Abnormality of the forehead	317662	FAM149B1	OMIM:618763
HP:0000290	Abnormality of the forehead	2261	FGFR3	OMIM:146000
HP:0000290	Abnormality of the forehead	2261	FGFR3	OMIM:187600
HP:0000290	Abnormality of the forehead	6499	SKIC2	OMIM:614602
HP:0000290	Abnormality of the forehead	6499	SKIC2	ORPHA:84064
HP:0000290	Abnormality of the forehead	1801	DPH1	OMIM:616901
HP:0000290	Abnormality of the forehead	1801	DPH1	ORPHA:459061
HP:0000290	Abnormality of the forehead	55681	SCYL2	OMIM:618766
HP:0000290	Abnormality of the forehead	55699	IARS2	ORPHA:436174
HP:0000290	Abnormality of the forehead	55699	IARS2	OMIM:616007
HP:0000290	Abnormality of the forehead	894	CCND2	OMIM:615938
HP:0000290	Abnormality of the forehead	23325	WASHC4	OMIM:615817
HP:0000290	Abnormality of the forehead	9401	RECQL4	OMIM:218600
HP:0000290	Abnormality of the forehead	5159	PDGFRB	OMIM:616592
HP:0000290	Abnormality of the forehead	57231	SNX14	OMIM:616354
HP:0000290	Abnormality of the forehead	23036	ZNF292	OMIM:619188
HP:0000290	Abnormality of the forehead	55148	UBR7	OMIM:619189
HP:0000290	Abnormality of the forehead	1954	MEGF8	OMIM:614976
HP:0000290	Abnormality of the forehead	1028	CDKN1C	OMIM:614732
HP:0000290	Abnormality of the forehead	1028	CDKN1C	ORPHA:397590
HP:0000290	Abnormality of the forehead	25942	SIN3A	OMIM:613406
HP:0000290	Abnormality of the forehead	5373	PMM2	OMIM:212065
HP:0000290	Abnormality of the forehead	5373	PMM2	ORPHA:79318
HP:0000290	Abnormality of the forehead	63901	FAM111A	OMIM:602361
HP:0000290	Abnormality of the forehead	63901	FAM111A	OMIM:127000
HP:0000290	Abnormality of the forehead	63901	FAM111A	ORPHA:93325
HP:0000290	Abnormality of the forehead	1802	DPH2	OMIM:620062
HP:0000290	Abnormality of the forehead	10804	GJB6	ORPHA:477
HP:0000290	Abnormality of the forehead	2706	GJB2	ORPHA:477
HP:0000290	Abnormality of the forehead	253738	EBF3	OMIM:617330
HP:0000290	Abnormality of the forehead	57217	TTC7A	OMIM:243150
HP:0000290	Abnormality of the forehead	65109	UPF3B	OMIM:300676
HP:0000290	Abnormality of the forehead	1182	CLCN3	OMIM:619512
HP:0000290	Abnormality of the forehead	23512	SUZ12	OMIM:618786
HP:0000290	Abnormality of the forehead	85301	COL27A1	OMIM:615155
HP:0000290	Abnormality of the forehead	6905	TBCE	OMIM:241410
HP:0000290	Abnormality of the forehead	57498	KIDINS220	ORPHA:521390
HP:0000290	Abnormality of the forehead	57498	KIDINS220	OMIM:617296
HP:0000290	Abnormality of the forehead	3572	IL6ST	OMIM:619750
HP:0000290	Abnormality of the forehead	5626	PROP1	ORPHA:226307
HP:0000290	Abnormality of the forehead	89884	LHX4	ORPHA:226307
HP:0000290	Abnormality of the forehead	8022	LHX3	ORPHA:226307
HP:0000290	Abnormality of the forehead	5449	POU1F1	ORPHA:226307
HP:0000290	Abnormality of the forehead	5449	POU1F1	OMIM:613038
HP:0000290	Abnormality of the forehead	8820	HESX1	ORPHA:226307
HP:0000290	Abnormality of the forehead	1857	DVL3	ORPHA:3107
HP:0000290	Abnormality of the forehead	7474	WNT5A	ORPHA:3107
HP:0000290	Abnormality of the forehead	1855	DVL1	ORPHA:3107
HP:0000290	Abnormality of the forehead	2535	FZD2	ORPHA:3107
HP:0000290	Abnormality of the forehead	285175	UNC80	OMIM:616801
HP:0000290	Abnormality of the forehead	10056	FARSB	OMIM:613658
HP:0000290	Abnormality of the forehead	11128	POLR3A	OMIM:264090
HP:0000290	Abnormality of the forehead	3675	ITGA3	OMIM:614748
HP:0000290	Abnormality of the forehead	8085	KMT2D	OMIM:620186
HP:0000290	Abnormality of the forehead	2517	FUCA1	ORPHA:349
HP:0000290	Abnormality of the forehead	2517	FUCA1	OMIM:230000
HP:0000290	Abnormality of the forehead	728294	D2HGDH	OMIM:600721
HP:0000290	Abnormality of the forehead	26137	ZBTB20	OMIM:259050
HP:0000290	Abnormality of the forehead	6774	STAT3	OMIM:147060
HP:0000290	Abnormality of the forehead	6774	STAT3	ORPHA:2314
HP:0000290	Abnormality of the forehead	9321	TRIP11	OMIM:184260
HP:0000290	Abnormality of the forehead	27086	FOXP1	ORPHA:391372
HP:0000290	Abnormality of the forehead	27086	FOXP1	OMIM:613670
HP:0000290	Abnormality of the forehead	4849	CNOT3	OMIM:618672
HP:0000290	Abnormality of the forehead	5324	PLAG1	ORPHA:397590
HP:0000290	Abnormality of the forehead	5324	PLAG1	OMIM:618907
HP:0000290	Abnormality of the forehead	8091	HMGA2	ORPHA:397590
HP:0000290	Abnormality of the forehead	8091	HMGA2	OMIM:618908
HP:0000290	Abnormality of the forehead	5591	PRKDC	OMIM:615966
HP:0000290	Abnormality of the forehead	51341	ZBTB7A	OMIM:619769
HP:0000290	Abnormality of the forehead	9968	MED12	OMIM:305450
HP:0000290	Abnormality of the forehead	9968	MED12	OMIM:300895
HP:0000290	Abnormality of the forehead	9968	MED12	OMIM:309520
HP:0000290	Abnormality of the forehead	5832	ALDH18A1	OMIM:219150
HP:0000290	Abnormality of the forehead	5832	ALDH18A1	ORPHA:90348
HP:0000290	Abnormality of the forehead	5832	ALDH18A1	OMIM:616603
HP:0000290	Abnormality of the forehead	471	ATIC	OMIM:608688
HP:0000290	Abnormality of the forehead	471	ATIC	ORPHA:250977
HP:0000290	Abnormality of the forehead	10430	TMEM147	OMIM:620075
HP:0000290	Abnormality of the forehead	4920	ROR2	OMIM:268310
HP:0000290	Abnormality of the forehead	51322	WAC	ORPHA:284169
HP:0000290	Abnormality of the forehead	51322	WAC	OMIM:616708
HP:0000290	Abnormality of the forehead	51322	WAC	ORPHA:466950
HP:0000290	Abnormality of the forehead	5295	PIK3R1	OMIM:269880
HP:0000290	Abnormality of the forehead	5295	PIK3R1	ORPHA:3163
HP:0000290	Abnormality of the forehead	254065	BRWD3	OMIM:300659
HP:0000290	Abnormality of the forehead	9652	SKIC3	OMIM:222470
HP:0000290	Abnormality of the forehead	9652	SKIC3	ORPHA:84064
HP:0000290	Abnormality of the forehead	10516	FBLN5	ORPHA:90348
HP:0000290	Abnormality of the forehead	3930	LBR	OMIM:169400
HP:0000290	Abnormality of the forehead	1107	CHD3	OMIM:618205
HP:0000290	Abnormality of the forehead	374969	SVBP	OMIM:618569
HP:0000290	Abnormality of the forehead	51574	LARP7	ORPHA:319671
HP:0000290	Abnormality of the forehead	79791	FBXO31	OMIM:615979
HP:0000290	Abnormality of the forehead	4882	NPR2	ORPHA:40
HP:0000290	Abnormality of the forehead	4882	NPR2	OMIM:602875
HP:0000290	Abnormality of the forehead	6513	SLC2A1	ORPHA:1942
HP:0000290	Abnormality of the forehead	8831	SYNGAP1	ORPHA:1942
HP:0000290	Abnormality of the forehead	1173	AP2M1	ORPHA:1942
HP:0000290	Abnormality of the forehead	6323	SCN1A	ORPHA:1942
HP:0000290	Abnormality of the forehead	1106	CHD2	ORPHA:1942
HP:0000290	Abnormality of the forehead	6529	SLC6A1	ORPHA:1942
HP:0000290	Abnormality of the forehead	5631	PRPS1	OMIM:300661
HP:0000290	Abnormality of the forehead	2317	FLNB	OMIM:150250
HP:0000290	Abnormality of the forehead	2317	FLNB	ORPHA:503
HP:0000290	Abnormality of the forehead	8295	TRRAP	OMIM:618454
HP:0000290	Abnormality of the forehead	2702	GJA5	OMIM:612474
HP:0000290	Abnormality of the forehead	2703	GJA8	OMIM:612474
HP:0000290	Abnormality of the forehead	51025	PAM16	OMIM:613320
HP:0000290	Abnormality of the forehead	3559	IL2RA	OMIM:606367
HP:0000290	Abnormality of the forehead	8905	AP1S2	OMIM:304340
HP:0000290	Abnormality of the forehead	3720	JARID2	OMIM:620098
HP:0000290	Abnormality of the forehead	865	CBFB	OMIM:620099
HP:0000290	Abnormality of the forehead	4038	LRP4	OMIM:212780
HP:0000290	Abnormality of the forehead	7189	TRAF6	ORPHA:1810
HP:0000290	Abnormality of the forehead	128178	EDARADD	ORPHA:1810
HP:0000290	Abnormality of the forehead	126695	KDF1	ORPHA:1810
HP:0000290	Abnormality of the forehead	10913	EDAR	ORPHA:1810
HP:0000290	Abnormality of the forehead	3479	IGF1	ORPHA:73272
HP:0000290	Abnormality of the forehead	8925	HERC1	OMIM:617011
HP:0000290	Abnormality of the forehead	8925	HERC1	ORPHA:457359
HP:0000290	Abnormality of the forehead	5898	RALA	OMIM:619311
HP:0000290	Abnormality of the forehead	60529	ALX4	OMIM:613451
HP:0000290	Abnormality of the forehead	23394	ADNP	OMIM:615873
HP:0000290	Abnormality of the forehead	23314	SATB2	ORPHA:251028
HP:0000290	Abnormality of the forehead	11133	KPTN	OMIM:615637
HP:0000290	Abnormality of the forehead	11133	KPTN	ORPHA:397612
HP:0000290	Abnormality of the forehead	10586	MAB21L2	OMIM:615877
HP:0000290	Abnormality of the forehead	56623	INPP5E	OMIM:213300
HP:0000290	Abnormality of the forehead	23363	OBSL1	OMIM:612921
HP:0000290	Abnormality of the forehead	23028	KDM1A	OMIM:616728
HP:0000290	Abnormality of the forehead	23028	KDM1A	ORPHA:477993
HP:0000290	Abnormality of the forehead	5745	PTH1R	OMIM:600002
HP:0000290	Abnormality of the forehead	5308	PITX2	ORPHA:782
HP:0000290	Abnormality of the forehead	2296	FOXC1	ORPHA:782
HP:0000290	Abnormality of the forehead	51412	ACTL6B	OMIM:618470
HP:0000290	Abnormality of the forehead	57520	HECW2	OMIM:617268
HP:0000290	Abnormality of the forehead	8882	ZPR1	OMIM:619321
HP:0000290	Abnormality of the forehead	30008	EFEMP2	OMIM:614437
HP:0000290	Abnormality of the forehead	5831	PYCR1	OMIM:614438
HP:0000290	Abnormality of the forehead	5831	PYCR1	OMIM:612940
HP:0000290	Abnormality of the forehead	4297	KMT2A	OMIM:605130
HP:0000290	Abnormality of the forehead	2239	GPC4	OMIM:301026
HP:0000290	Abnormality of the forehead	4621	MYH3	OMIM:193700
HP:0000290	Abnormality of the forehead	6777	STAT5B	OMIM:245590
HP:0000290	Abnormality of the forehead	10265	IRX5	OMIM:611174
HP:0000290	Abnormality of the forehead	7468	NSD2	OMIM:619695
HP:0000290	Abnormality of the forehead	1778	DYNC1H1	OMIM:614563
HP:0000290	Abnormality of the forehead	259232	NALCN	OMIM:615419
HP:0000290	Abnormality of the forehead	1000	CDH2	OMIM:618929
HP:0000290	Abnormality of the forehead	64093	SMOC1	ORPHA:1106
HP:0000290	Abnormality of the forehead	64093	SMOC1	OMIM:206920
HP:0000290	Abnormality of the forehead	372	ARCN1	OMIM:617164
HP:0000290	Abnormality of the forehead	164	AP1G1	OMIM:619467
HP:0000290	Abnormality of the forehead	54681	P4HTM	OMIM:618493
HP:0000290	Abnormality of the forehead	3758	KCNJ1	OMIM:241200
HP:0000290	Abnormality of the forehead	2475	MTOR	ORPHA:457485
HP:0000290	Abnormality of the forehead	760	CA2	ORPHA:2785
HP:0000290	Abnormality of the forehead	9791	PTDSS1	OMIM:151050
HP:0000290	Abnormality of the forehead	9851	KIAA0753	OMIM:619476
HP:0000290	Abnormality of the forehead	5977	DPF2	OMIM:618027
HP:0000290	Abnormality of the forehead	10847	SRCAP	OMIM:619595
HP:0000290	Abnormality of the forehead	91461	PKDCC	OMIM:618821
HP:0000290	Abnormality of the forehead	4796	TONSL	ORPHA:93357
HP:0000290	Abnormality of the forehead	10060	ABCC9	OMIM:239850
HP:0000290	Abnormality of the forehead	2887	GRB10	ORPHA:96182
HP:0000290	Abnormality of the forehead	8720	MBTPS1	OMIM:618392
HP:0000290	Abnormality of the forehead	4893	NRAS	OMIM:137550
HP:0000290	Abnormality of the forehead	3265	HRAS	OMIM:137550
HP:0000290	Abnormality of the forehead	1718	DHCR24	ORPHA:35107
HP:0000290	Abnormality of the forehead	3636	INPPL1	OMIM:258480
HP:0000290	Abnormality of the forehead	6872	TAF1	OMIM:300966
HP:0000290	Abnormality of the forehead	285590	SH3PXD2B	OMIM:249420
HP:0000290	Abnormality of the forehead	57688	ZSWIM6	OMIM:617865
HP:0000290	Abnormality of the forehead	202018	TAPT1	OMIM:616897
HP:0000290	Abnormality of the forehead	1806	DPYD	ORPHA:1675
HP:0000290	Abnormality of the forehead	2260	FGFR1	OMIM:123150
HP:0000290	Abnormality of the forehead	2263	FGFR2	OMIM:123150
HP:0000290	Abnormality of the forehead	2799	GNS	OMIM:252940
HP:0000290	Abnormality of the forehead	10551	AGR2	OMIM:620233
HP:0000290	Abnormality of the forehead	126792	B3GALT6	OMIM:271640
HP:0000290	Abnormality of the forehead	126792	B3GALT6	OMIM:615349
HP:0000290	Abnormality of the forehead	6497	SKI	OMIM:182212
HP:0000290	Abnormality of the forehead	57020	VPS35L	OMIM:619135
HP:0000290	Abnormality of the forehead	10020	GNE	OMIM:269921
HP:0000290	Abnormality of the forehead	10020	GNE	ORPHA:3166
HP:0000290	Abnormality of the forehead	2733	GLE1	OMIM:611890
HP:0000290	Abnormality of the forehead	9487	PIGL	OMIM:280000
HP:0000290	Abnormality of the forehead	1280	COL2A1	ORPHA:85166
HP:0000290	Abnormality of the forehead	54187	NANS	OMIM:610442
HP:0000290	Abnormality of the forehead	55901	THSD1	OMIM:620244
HP:0000290	Abnormality of the forehead	9130	FAM50A	OMIM:300261
HP:0000290	Abnormality of the forehead	9469	CHST3	OMIM:245600
HP:0000290	Abnormality of the forehead	26229	B3GAT3	OMIM:245600
HP:0000290	Abnormality of the forehead	23404	EXOSC2	OMIM:617763
HP:0000290	Abnormality of the forehead	92935	MARS2	OMIM:616430
HP:0000290	Abnormality of the forehead	8398	PLA2G6	OMIM:256600
HP:0000290	Abnormality of the forehead	25886	POC1A	OMIM:614813
HP:0000290	Abnormality of the forehead	121340	SP7	OMIM:613849
HP:0000290	Abnormality of the forehead	94005	PIGS	OMIM:618143
HP:0000290	Abnormality of the forehead	2200	FBN1	OMIM:608328
HP:0000290	Abnormality of the forehead	4488	MSX2	OMIM:604757
HP:0000290	Abnormality of the forehead	158326	FREM1	OMIM:614485
HP:0000290	Abnormality of the forehead	1024	CDK8	OMIM:618748
HP:0000290	Abnormality of the forehead	8496	PPFIBP1	OMIM:620024
HP:0000290	Abnormality of the forehead	55593	OTUD5	OMIM:301056
HP:0000290	Abnormality of the forehead	5727	PTCH1	ORPHA:77301
HP:0000290	Abnormality of the forehead	5277	PIGA	OMIM:300868
HP:0000290	Abnormality of the forehead	10736	SIX2	ORPHA:488437
HP:0000290	Abnormality of the forehead	1642	DDB1	OMIM:619426
HP:0000290	Abnormality of the forehead	55617	TASP1	OMIM:618950
HP:0000290	Abnormality of the forehead	54496	PRMT7	OMIM:617157
HP:0000290	Abnormality of the forehead	1387	CREBBP	OMIM:180849
HP:0000290	Abnormality of the forehead	2033	EP300	OMIM:180849
HP:0000290	Abnormality of the forehead	150468	CKAP2L	OMIM:272440
HP:0000290	Abnormality of the forehead	8604	SLC25A12	OMIM:612949
HP:0000291	Abnormality of facial adipose tissue	4000	LMNA	ORPHA:280365
HP:0000291	Abnormality of facial adipose tissue	4000	LMNA	OMIM:248370
HP:0000291	Abnormality of facial adipose tissue	4000	LMNA	OMIM:151660
HP:0000291	Abnormality of facial adipose tissue	63924	CIDEC	ORPHA:435651
HP:0000291	Abnormality of facial adipose tissue	2074	ERCC6	OMIM:133540
HP:0000291	Abnormality of facial adipose tissue	5468	PPARG	ORPHA:79083
HP:0000291	Abnormality of facial adipose tissue	3763	KCNJ6	ORPHA:435628
HP:0000291	Abnormality of facial adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0000291	Abnormality of facial adipose tissue	5696	PSMB8	OMIM:256040
HP:0000291	Abnormality of facial adipose tissue	1161	ERCC8	OMIM:216400
HP:0000291	Abnormality of facial adipose tissue	11128	POLR3A	ORPHA:3455
HP:0000291	Abnormality of facial adipose tissue	84823	LMNB2	OMIM:608709
HP:0000292	Loss of facial adipose tissue	63924	CIDEC	ORPHA:435651
HP:0000292	Loss of facial adipose tissue	2074	ERCC6	OMIM:133540
HP:0000292	Loss of facial adipose tissue	5468	PPARG	ORPHA:79083
HP:0000292	Loss of facial adipose tissue	3763	KCNJ6	ORPHA:435628
HP:0000292	Loss of facial adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0000292	Loss of facial adipose tissue	5696	PSMB8	OMIM:256040
HP:0000292	Loss of facial adipose tissue	1161	ERCC8	OMIM:216400
HP:0000292	Loss of facial adipose tissue	11128	POLR3A	ORPHA:3455
HP:0000292	Loss of facial adipose tissue	84823	LMNB2	OMIM:608709
HP:0000294	Low anterior hairline	7291	TWIST1	ORPHA:794
HP:0000294	Low anterior hairline	7291	TWIST1	OMIM:101400
HP:0000294	Low anterior hairline	7291	TWIST1	OMIM:617746
HP:0000294	Low anterior hairline	2263	FGFR2	ORPHA:794
HP:0000294	Low anterior hairline	2263	FGFR2	OMIM:101400
HP:0000294	Low anterior hairline	2261	FGFR3	ORPHA:794
HP:0000294	Low anterior hairline	2261	FGFR3	OMIM:602849
HP:0000294	Low anterior hairline	3479	IGF1	ORPHA:73272
HP:0000294	Low anterior hairline	11113	CIT	OMIM:617090
HP:0000294	Low anterior hairline	8243	SMC1A	OMIM:300590
HP:0000294	Low anterior hairline	8243	SMC1A	OMIM:301044
HP:0000294	Low anterior hairline	8243	SMC1A	ORPHA:199
HP:0000294	Low anterior hairline	10128	LRPPRC	OMIM:220111
HP:0000294	Low anterior hairline	91949	COG7	OMIM:608779
HP:0000294	Low anterior hairline	25970	SH2B1	ORPHA:261222
HP:0000294	Low anterior hairline	9131	AIFM1	OMIM:300232
HP:0000294	Low anterior hairline	6909	TBX2	OMIM:618223
HP:0000294	Low anterior hairline	23013	SPEN	OMIM:619312
HP:0000294	Low anterior hairline	8367	H4C5	OMIM:619950
HP:0000294	Low anterior hairline	117581	TWIST2	OMIM:227260
HP:0000294	Low anterior hairline	117581	TWIST2	OMIM:209885
HP:0000294	Low anterior hairline	6885	MAP3K7	OMIM:617137
HP:0000294	Low anterior hairline	55627	SMPD4	OMIM:618622
HP:0000294	Low anterior hairline	8818	DPM2	ORPHA:329178
HP:0000294	Low anterior hairline	7545	ZIC1	OMIM:616602
HP:0000294	Low anterior hairline	7545	ZIC1	OMIM:618736
HP:0000294	Low anterior hairline	7518	XRCC4	ORPHA:99812
HP:0000294	Low anterior hairline	3981	LIG4	ORPHA:99812
HP:0000294	Low anterior hairline	3981	LIG4	OMIM:606593
HP:0000294	Low anterior hairline	3981	LIG4	ORPHA:235
HP:0000294	Low anterior hairline	55209	SETD5	ORPHA:404440
HP:0000294	Low anterior hairline	55209	SETD5	OMIM:615761
HP:0000294	Low anterior hairline	55869	HDAC8	OMIM:300882
HP:0000294	Low anterior hairline	55869	HDAC8	ORPHA:199
HP:0000294	Low anterior hairline	57465	TBC1D24	OMIM:220500
HP:0000294	Low anterior hairline	57465	TBC1D24	ORPHA:79500
HP:0000294	Low anterior hairline	9578	CDC42BPB	OMIM:619841
HP:0000294	Low anterior hairline	3020	H3-3A	OMIM:619720
HP:0000294	Low anterior hairline	170302	ARX	OMIM:300004
HP:0000294	Low anterior hairline	29998	BICRA	OMIM:619325
HP:0000294	Low anterior hairline	341640	FREM2	OMIM:617666
HP:0000294	Low anterior hairline	65082	VPS33A	OMIM:617303
HP:0000294	Low anterior hairline	55690	PACS1	OMIM:615009
HP:0000294	Low anterior hairline	55690	PACS1	ORPHA:329224
HP:0000294	Low anterior hairline	4081	MAB21L1	OMIM:618479
HP:0000294	Low anterior hairline	80055	PGAP1	OMIM:615802
HP:0000294	Low anterior hairline	318	NUDT2	OMIM:619844
HP:0000294	Low anterior hairline	10982	MAPRE2	OMIM:616734
HP:0000294	Low anterior hairline	25782	RAB3GAP2	OMIM:212720
HP:0000294	Low anterior hairline	25782	RAB3GAP2	OMIM:614225
HP:0000294	Low anterior hairline	55780	ERMARD	ORPHA:75857
HP:0000294	Low anterior hairline	3764	KCNJ8	ORPHA:1517
HP:0000294	Low anterior hairline	10060	ABCC9	ORPHA:1517
HP:0000294	Low anterior hairline	9126	SMC3	OMIM:610759
HP:0000294	Low anterior hairline	9126	SMC3	ORPHA:199
HP:0000294	Low anterior hairline	6595	SMARCA2	OMIM:619293
HP:0000294	Low anterior hairline	6595	SMARCA2	OMIM:601358
HP:0000294	Low anterior hairline	5934	RBL2	OMIM:619690
HP:0000294	Low anterior hairline	83999	KREMEN1	OMIM:617392
HP:0000294	Low anterior hairline	10735	STAG2	OMIM:301022
HP:0000294	Low anterior hairline	23221	RHOBTB2	OMIM:618004
HP:0000294	Low anterior hairline	55870	ASH1L	OMIM:617796
HP:0000294	Low anterior hairline	4125	MAN2B1	OMIM:248500
HP:0000294	Low anterior hairline	1020	CDK5	OMIM:616342
HP:0000294	Low anterior hairline	3756	KCNH1	OMIM:135500
HP:0000294	Low anterior hairline	3756	KCNH1	ORPHA:420561
HP:0000294	Low anterior hairline	79029	AFG2B	OMIM:619616
HP:0000294	Low anterior hairline	6597	SMARCA4	ORPHA:1465
HP:0000294	Low anterior hairline	6598	SMARCB1	ORPHA:1465
HP:0000294	Low anterior hairline	6659	SOX4	ORPHA:1465
HP:0000294	Low anterior hairline	8289	ARID1A	ORPHA:1465
HP:0000294	Low anterior hairline	8289	ARID1A	OMIM:614607
HP:0000294	Low anterior hairline	5977	DPF2	ORPHA:1465
HP:0000294	Low anterior hairline	6601	SMARCC2	ORPHA:1465
HP:0000294	Low anterior hairline	6602	SMARCD1	ORPHA:1465
HP:0000294	Low anterior hairline	57492	ARID1B	ORPHA:1465
HP:0000294	Low anterior hairline	196528	ARID2	ORPHA:1465
HP:0000294	Low anterior hairline	6605	SMARCE1	ORPHA:1465
HP:0000294	Low anterior hairline	6605	SMARCE1	OMIM:616938
HP:0000294	Low anterior hairline	6664	SOX11	ORPHA:1465
HP:0000294	Low anterior hairline	23389	MED13L	ORPHA:369891
HP:0000294	Low anterior hairline	23065	EMC1	OMIM:616875
HP:0000294	Low anterior hairline	23065	EMC1	ORPHA:480898
HP:0000294	Low anterior hairline	128637	TBC1D20	OMIM:615663
HP:0000294	Low anterior hairline	1954	MEGF8	OMIM:614976
HP:0000294	Low anterior hairline	3782	KCNN3	OMIM:618658
HP:0000294	Low anterior hairline	4853	NOTCH2	ORPHA:955
HP:0000294	Low anterior hairline	57572	DOCK6	OMIM:614219
HP:0000294	Low anterior hairline	59336	PRDM13	OMIM:619909
HP:0000294	Low anterior hairline	23476	BRD4	ORPHA:199
HP:0000294	Low anterior hairline	25836	NIPBL	ORPHA:199
HP:0000294	Low anterior hairline	5885	RAD21	ORPHA:199
HP:0000294	Low anterior hairline	54888	NSUN2	ORPHA:235
HP:0000294	Low anterior hairline	9895	TECPR2	OMIM:615031
HP:0000294	Low anterior hairline	9895	TECPR2	ORPHA:320385
HP:0000294	Low anterior hairline	29957	SLC25A24	ORPHA:2095
HP:0000294	Low anterior hairline	29957	SLC25A24	OMIM:612289
HP:0000294	Low anterior hairline	157680	VPS13B	ORPHA:193
HP:0000294	Low anterior hairline	1182	CLCN3	OMIM:619512
HP:0000294	Low anterior hairline	1387	CREBBP	OMIM:180849
HP:0000294	Low anterior hairline	2033	EP300	OMIM:180849
HP:0000294	Low anterior hairline	6938	TCF12	OMIM:615314
HP:0000294	Low anterior hairline	22931	RAB18	OMIM:614222
HP:0000294	Low anterior hairline	85440	DOCK7	ORPHA:411986
HP:0000294	Low anterior hairline	85440	DOCK7	OMIM:615859
HP:0000294	Low anterior hairline	80036	TRPM3	OMIM:620224
HP:0000294	Low anterior hairline	54499	TMCO1	OMIM:213980
HP:0000294	Low anterior hairline	8405	SPOP	OMIM:618828
HP:0000294	Low anterior hairline	5184	PEPD	ORPHA:742
HP:0000294	Low anterior hairline	526	ATP6V1B2	ORPHA:79500
HP:0000294	Low anterior hairline	84172	POLR1B	ORPHA:861
HP:0000294	Low anterior hairline	9533	POLR1C	ORPHA:861
HP:0000294	Low anterior hairline	51082	POLR1D	ORPHA:861
HP:0000294	Low anterior hairline	6949	TCOF1	ORPHA:861
HP:0000294	Low anterior hairline	7204	TRIO	OMIM:617061
HP:0000294	Low anterior hairline	374879	ZNF699	OMIM:619488
HP:0000294	Low anterior hairline	253959	RALGAPA1	OMIM:618797
HP:0000294	Low anterior hairline	91875	TTC5	OMIM:619244
HP:0000294	Low anterior hairline	440138	ALG11	OMIM:613661
HP:0000294	Low anterior hairline	93587	TRMT10A	ORPHA:391408
HP:0000294	Low anterior hairline	93587	TRMT10A	OMIM:616033
HP:0000294	Low anterior hairline	84919	PPP1R15B	ORPHA:391408
HP:0000294	Low anterior hairline	55343	SLC35C1	ORPHA:99843
HP:0000294	Low anterior hairline	55691	FRMD4A	OMIM:616819
HP:0000294	Low anterior hairline	55691	FRMD4A	ORPHA:466688
HP:0000294	Low anterior hairline	5286	PIK3C2A	OMIM:618440
HP:0000294	Low anterior hairline	79147	FKRP	OMIM:613153
HP:0000294	Low anterior hairline	54187	NANS	OMIM:610442
HP:0000294	Low anterior hairline	374969	SVBP	OMIM:618569
HP:0000294	Low anterior hairline	3643	INSR	ORPHA:769
HP:0000294	Low anterior hairline	4683	NBN	ORPHA:647
HP:0000294	Low anterior hairline	5468	PPARG	ORPHA:528
HP:0000294	Low anterior hairline	10555	AGPAT2	ORPHA:528
HP:0000294	Low anterior hairline	284119	CAVIN1	ORPHA:528
HP:0000294	Low anterior hairline	26580	BSCL2	ORPHA:528
HP:0000294	Low anterior hairline	2353	FOS	ORPHA:528
HP:0000294	Low anterior hairline	857	CAV1	ORPHA:528
HP:0000294	Low anterior hairline	3339	HSPG2	ORPHA:800
HP:0000294	Low anterior hairline	6135	RPL11	ORPHA:124
HP:0000294	Low anterior hairline	6138	RPL15	ORPHA:124
HP:0000294	Low anterior hairline	6229	RPS24	ORPHA:124
HP:0000294	Low anterior hairline	6125	RPL5	ORPHA:124
HP:0000294	Low anterior hairline	6204	RPS10	ORPHA:124
HP:0000294	Low anterior hairline	6224	RPS20	ORPHA:124
HP:0000294	Low anterior hairline	6165	RPL35A	ORPHA:124
HP:0000294	Low anterior hairline	2623	GATA1	ORPHA:124
HP:0000294	Low anterior hairline	6223	RPS19	ORPHA:124
HP:0000294	Low anterior hairline	6232	RPS27	ORPHA:124
HP:0000294	Low anterior hairline	6231	RPS26	ORPHA:124
HP:0000294	Low anterior hairline	11224	RPL35	ORPHA:124
HP:0000294	Low anterior hairline	6160	RPL31	ORPHA:124
HP:0000294	Low anterior hairline	6218	RPS17	ORPHA:124
HP:0000294	Low anterior hairline	6201	RPS7	ORPHA:124
HP:0000294	Low anterior hairline	6155	RPL27	ORPHA:124
HP:0000294	Low anterior hairline	6154	RPL26	ORPHA:124
HP:0000294	Low anterior hairline	6210	RPS15A	ORPHA:124
HP:0000294	Low anterior hairline	90121	TSR2	ORPHA:124
HP:0000294	Low anterior hairline	6141	RPL18	ORPHA:124
HP:0000294	Low anterior hairline	6235	RPS29	ORPHA:124
HP:0000294	Low anterior hairline	6234	RPS28	ORPHA:124
HP:0000294	Low anterior hairline	51816	ADA2	ORPHA:124
HP:0000294	Low anterior hairline	171023	ASXL1	OMIM:605039
HP:0000294	Low anterior hairline	6913	TBX15	OMIM:260660
HP:0000294	Low anterior hairline	29123	ANKRD11	OMIM:148050
HP:0000294	Low anterior hairline	672	BRCA1	OMIM:617883
HP:0000294	Low anterior hairline	6878	TAF6	OMIM:617126
HP:0000294	Low anterior hairline	9990	SLC12A6	OMIM:218000
HP:0000295	Doll-like facies	2538	G6PC1	OMIM:232200
HP:0000295	Doll-like facies	8635	RNASET2	OMIM:612951
HP:0000295	Doll-like facies	6514	SLC2A2	ORPHA:2088
HP:0000295	Doll-like facies	2542	SLC37A4	OMIM:232220
HP:0000297	Facial hypotonia	50801	KCNK4	OMIM:618381
HP:0000297	Facial hypotonia	7528	YY1	ORPHA:506358
HP:0000297	Facial hypotonia	7528	YY1	OMIM:617557
HP:0000297	Facial hypotonia	5518	PPP2R1A	OMIM:616362
HP:0000297	Facial hypotonia	5518	PPP2R1A	ORPHA:457284
HP:0000297	Facial hypotonia	55768	NGLY1	OMIM:615273
HP:0000297	Facial hypotonia	55768	NGLY1	ORPHA:404454
HP:0000297	Facial hypotonia	27107	ZBTB11	OMIM:618383
HP:0000297	Facial hypotonia	2892	GRIA3	ORPHA:364028
HP:0000297	Facial hypotonia	11154	AP4S1	OMIM:614067
HP:0000297	Facial hypotonia	11154	AP4S1	ORPHA:280763
HP:0000297	Facial hypotonia	23126	POGZ	OMIM:616364
HP:0000297	Facial hypotonia	23126	POGZ	ORPHA:468678
HP:0000297	Facial hypotonia	92335	STRADA	ORPHA:500533
HP:0000297	Facial hypotonia	92335	STRADA	OMIM:611087
HP:0000297	Facial hypotonia	6418	SET	OMIM:618106
HP:0000297	Facial hypotonia	285175	UNC80	OMIM:616801
HP:0000297	Facial hypotonia	773	CACNA1A	ORPHA:2131
HP:0000297	Facial hypotonia	6507	SLC1A3	ORPHA:2131
HP:0000297	Facial hypotonia	477	ATP1A2	ORPHA:2131
HP:0000297	Facial hypotonia	478	ATP1A3	ORPHA:2131
HP:0000297	Facial hypotonia	9499	MYOT	ORPHA:266
HP:0000297	Facial hypotonia	4125	MAN2B1	ORPHA:309282
HP:0000297	Facial hypotonia	2548	GAA	ORPHA:308552
HP:0000297	Facial hypotonia	23030	KDM4B	OMIM:619320
HP:0000297	Facial hypotonia	283489	CHAMP1	OMIM:616579
HP:0000297	Facial hypotonia	200424	TET3	OMIM:618798
HP:0000297	Facial hypotonia	23431	AP4E1	OMIM:613744
HP:0000297	Facial hypotonia	23431	AP4E1	ORPHA:280763
HP:0000297	Facial hypotonia	271	AMPD2	OMIM:615809
HP:0000297	Facial hypotonia	10717	AP4B1	ORPHA:280763
HP:0000297	Facial hypotonia	9179	AP4M1	ORPHA:280763
HP:0000297	Facial hypotonia	4204	MECP2	OMIM:300055
HP:0000297	Facial hypotonia	4204	MECP2	OMIM:300260
HP:0000297	Facial hypotonia	8925	HERC1	ORPHA:457359
HP:0000297	Facial hypotonia	8242	KDM5C	OMIM:300534
HP:0000297	Facial hypotonia	818	CAMK2G	OMIM:618522
HP:0000297	Facial hypotonia	10463	SLC30A9	OMIM:617595
HP:0000297	Facial hypotonia	10735	STAG2	ORPHA:521258
HP:0000297	Facial hypotonia	5455	POU3F3	OMIM:618604
HP:0000297	Facial hypotonia	1778	DYNC1H1	OMIM:614563
HP:0000297	Facial hypotonia	29940	DSE	OMIM:615539
HP:0000297	Facial hypotonia	157680	VPS13B	OMIM:216550
HP:0000297	Facial hypotonia	7703	PCGF2	OMIM:618371
HP:0000297	Facial hypotonia	171023	ASXL1	ORPHA:97297
HP:0000297	Facial hypotonia	1760	DMPK	ORPHA:589821
HP:0000297	Facial hypotonia	5528	PPP2R5D	OMIM:616355
HP:0000297	Facial hypotonia	57178	ZMIZ1	OMIM:618659
HP:0000297	Facial hypotonia	5813	PURA	ORPHA:438216
HP:0000297	Facial hypotonia	23314	SATB2	OMIM:612313
HP:0000297	Facial hypotonia	5081	PAX7	OMIM:618578
HP:0000297	Facial hypotonia	2719	GPC3	OMIM:312870
HP:0000297	Facial hypotonia	2239	GPC4	OMIM:312870
HP:0000297	Facial hypotonia	64132	XYLT2	ORPHA:85194
HP:0000297	Facial hypotonia	9230	RAB11B	OMIM:617807
HP:0000298	Mask-like facies	7337	UBE3A	ORPHA:238446
HP:0000298	Mask-like facies	2218	FKTN	ORPHA:272
HP:0000298	Mask-like facies	2218	FKTN	OMIM:236670
HP:0000298	Mask-like facies	3763	KCNJ6	ORPHA:435628
HP:0000298	Mask-like facies	79876	UBA5	OMIM:617132
HP:0000298	Mask-like facies	10159	ATP6AP2	ORPHA:363654
HP:0000298	Mask-like facies	8106	PABPN1	ORPHA:270
HP:0000298	Mask-like facies	8106	PABPN1	OMIM:164300
HP:0000298	Mask-like facies	4361	MRE11	ORPHA:251347
HP:0000298	Mask-like facies	58	ACTA1	OMIM:161800
HP:0000298	Mask-like facies	22947	DUX4L1	ORPHA:269
HP:0000298	Mask-like facies	1789	DNMT3B	ORPHA:269
HP:0000298	Mask-like facies	2483	FRG1	ORPHA:269
HP:0000298	Mask-like facies	23347	SMCHD1	ORPHA:269
HP:0000298	Mask-like facies	100288687	DUX4	ORPHA:269
HP:0000298	Mask-like facies	6535	SLC6A8	ORPHA:52503
HP:0000298	Mask-like facies	7084	TK2	ORPHA:254886
HP:0000298	Mask-like facies	5428	POLG	ORPHA:254886
HP:0000298	Mask-like facies	5621	PRNP	ORPHA:157941
HP:0000298	Mask-like facies	51506	UFC1	OMIM:618076
HP:0000298	Mask-like facies	79152	FA2H	ORPHA:171629
HP:0000298	Mask-like facies	8085	KMT2D	ORPHA:2322
HP:0000298	Mask-like facies	7403	KDM6A	ORPHA:2322
HP:0000298	Mask-like facies	5610	EIF2AK2	OMIM:618877
HP:0000298	Mask-like facies	22954	TRIM32	ORPHA:1878
HP:0000298	Mask-like facies	29954	POMT2	OMIM:236670
HP:0000298	Mask-like facies	9215	LARGE1	OMIM:236670
HP:0000298	Mask-like facies	79147	FKRP	OMIM:236670
HP:0000298	Mask-like facies	10585	POMT1	OMIM:236670
HP:0000298	Mask-like facies	7054	TH	OMIM:605407
HP:0000298	Mask-like facies	5980	REV3L	ORPHA:570
HP:0000298	Mask-like facies	23129	PLXND1	ORPHA:570
HP:0000298	Mask-like facies	4621	MYH3	OMIM:193700
HP:0000298	Mask-like facies	5080	PAX6	ORPHA:1065
HP:0000298	Mask-like facies	3708	ITPR1	ORPHA:1065
HP:0000298	Mask-like facies	6575	SLC20A2	OMIM:213600
HP:0000298	Mask-like facies	5155	PDGFB	OMIM:213600
HP:0000298	Mask-like facies	5159	PDGFRB	OMIM:213600
HP:0000298	Mask-like facies	3339	HSPG2	OMIM:255800
HP:0000298	Mask-like facies	3339	HSPG2	ORPHA:800
HP:0000298	Mask-like facies	23400	ATP13A2	OMIM:606693
HP:0000298	Mask-like facies	538	ATP7A	ORPHA:565
HP:0000298	Mask-like facies	2332	FMR1	OMIM:300623
HP:0000298	Mask-like facies	54101	RIPK4	OMIM:263650
HP:0000298	Mask-like facies	80025	PANK2	ORPHA:216866
HP:0000298	Mask-like facies	523	ATP6V1A	OMIM:617403
HP:0000298	Mask-like facies	63895	PIEZO2	ORPHA:2461
HP:0000298	Mask-like facies	2747	GLUD2	OMIM:168600
HP:0000298	Mask-like facies	126	ADH1C	OMIM:168600
HP:0000298	Mask-like facies	4137	MAPT	OMIM:168600
HP:0000298	Mask-like facies	2629	GBA1	OMIM:168600
HP:0000298	Mask-like facies	4929	NR4A2	OMIM:168600
HP:0000298	Mask-like facies	6908	TBP	OMIM:168600
HP:0000298	Mask-like facies	4576	MT-TT	OMIM:168600
HP:0000298	Mask-like facies	9627	SNCAIP	OMIM:168600
HP:0000298	Mask-like facies	6311	ATXN2	OMIM:168600
HP:0000298	Mask-like facies	6315	ATXN8OS	OMIM:168600
HP:0000298	Mask-like facies	1639	DCTN1	OMIM:168605
HP:0007455	Adermatoglyphia	1308	COL17A1	ORPHA:79406
HP:0007455	Adermatoglyphia	3861	KRT14	OMIM:161000
HP:0007455	Adermatoglyphia	3861	KRT14	ORPHA:69087
HP:0007455	Adermatoglyphia	3861	KRT14	OMIM:125595
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:136000
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:181600
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:129200
HP:0007455	Adermatoglyphia	8626	TP63	OMIM:103285
HP:0007456	Progressive reticulate hyperpigmentation	3852	KRT5	OMIM:179850
HP:0007456	Progressive reticulate hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0007457	Prominent veins on trunk	23545	ATP6V0A2	ORPHA:2834
HP:0007457	Prominent veins on trunk	23545	ATP6V0A2	ORPHA:357074
HP:0007457	Prominent veins on trunk	5468	PPARG	ORPHA:79083
HP:0007457	Prominent veins on trunk	165	AEBP1	ORPHA:536532
HP:0007457	Prominent veins on trunk	523	ATP6V1A	ORPHA:357074
HP:0007457	Prominent veins on trunk	529	ATP6V1E1	ORPHA:357074
HP:0007459	Generalized anhidrosis	3709	ITPR2	OMIM:106190
HP:0033309	Ileoileal intussusception	55898	UNC45A	OMIM:619377
HP:0033308	Patellar overgrowth	114548	NLRP3	OMIM:607115
HP:0033303	Elevated urinary monocarboxylic acid level	4716	NDUFB10	OMIM:619003
HP:0033303	Elevated urinary monocarboxylic acid level	7915	ALDH5A1	OMIM:271980
HP:0033303	Elevated urinary monocarboxylic acid level	3081	HGD	OMIM:203500
HP:0033303	Elevated urinary monocarboxylic acid level	763	CA5A	OMIM:615751
HP:0033303	Elevated urinary monocarboxylic acid level	34	ACADM	ORPHA:42
HP:0033303	Elevated urinary monocarboxylic acid level	4329	ALDH6A1	OMIM:614105
HP:0033303	Elevated urinary monocarboxylic acid level	5019	OXCT1	OMIM:245050
HP:0007460	Autoamputation of digits	10558	SPTLC1	OMIM:162400
HP:0007460	Autoamputation of digits	22948	CCT5	OMIM:256840
HP:0007460	Autoamputation of digits	22948	CCT5	ORPHA:139578
HP:0007460	Autoamputation of digits	4803	NGF	OMIM:608654
HP:0007460	Autoamputation of digits	3848	KRT1	ORPHA:79503
HP:0007460	Autoamputation of digits	2706	GJB2	ORPHA:494
HP:0007460	Autoamputation of digits	2706	GJB2	OMIM:124500
HP:0007460	Autoamputation of digits	54463	RETREG1	OMIM:201300
HP:0007460	Autoamputation of digits	54463	RETREG1	OMIM:613115
HP:0007460	Autoamputation of digits	65125	WNK1	OMIM:201300
HP:0007460	Autoamputation of digits	6335	SCN9A	OMIM:201300
HP:0007460	Autoamputation of digits	547	KIF1A	OMIM:201300
HP:0007460	Autoamputation of digits	547	KIF1A	OMIM:614213
HP:0007460	Autoamputation of digits	162514	TRPV3	OMIM:614594
HP:0007460	Autoamputation of digits	7051	TGM1	ORPHA:100976
HP:0007460	Autoamputation of digits	9517	SPTLC2	OMIM:613640
HP:0007460	Autoamputation of digits	26276	VPS33B	OMIM:620009
HP:0007460	Autoamputation of digits	4358	MPV17	OMIM:256810
HP:0007460	Autoamputation of digits	4914	NTRK1	OMIM:256800
HP:0007460	Autoamputation of digits	11277	TREX1	OMIM:610448
HP:0007460	Autoamputation of digits	51062	ATL1	OMIM:613708
HP:0007461	Hemangiomatosis	440275	EIF2AK4	OMIM:234810
HP:0007461	Hemangiomatosis	440275	EIF2AK4	ORPHA:199241
HP:0007461	Hemangiomatosis	595	CCND1	OMIM:193300
HP:0007461	Hemangiomatosis	7428	VHL	OMIM:193300
HP:0007461	Hemangiomatosis	5921	RASA1	ORPHA:90307
HP:0007461	Hemangiomatosis	3418	IDH2	ORPHA:163634
HP:0007461	Hemangiomatosis	3417	IDH1	ORPHA:163634
HP:0007461	Hemangiomatosis	2658	GDF2	ORPHA:774
HP:0007461	Hemangiomatosis	94	ACVRL1	ORPHA:774
HP:0007461	Hemangiomatosis	4089	SMAD4	ORPHA:774
HP:0007461	Hemangiomatosis	2022	ENG	ORPHA:774
HP:0007461	Hemangiomatosis	5745	PTH1R	ORPHA:296
HP:0007461	Hemangiomatosis	2263	FGFR2	ORPHA:1555
HP:0007461	Hemangiomatosis	7010	TEK	ORPHA:1059
HP:0007461	Hemangiomatosis	5290	PIK3CA	ORPHA:60040
HP:0007461	Hemangiomatosis	2260	FGFR1	ORPHA:2396
HP:0007461	Hemangiomatosis	3845	KRAS	ORPHA:2396
HP:0007461	Hemangiomatosis	5728	PTEN	ORPHA:109
HP:0007461	Hemangiomatosis	5728	PTEN	ORPHA:137608
HP:0007461	Hemangiomatosis	5728	PTEN	ORPHA:744
HP:0007461	Hemangiomatosis	1836	SLC26A2	ORPHA:628
HP:0007461	Hemangiomatosis	207	AKT1	ORPHA:744
HP:0007461	Hemangiomatosis	2776	GNAQ	ORPHA:3205
HP:0007464	Sparse facial hair	6023	RMRP	OMIM:250250
HP:0007465	Honeycomb palmoplantar hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0007465	Honeycomb palmoplantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0007465	Honeycomb palmoplantar hyperkeratosis	2706	GJB2	OMIM:124500
HP:0007465	Honeycomb palmoplantar hyperkeratosis	2706	GJB2	ORPHA:494
HP:0007465	Honeycomb palmoplantar hyperkeratosis	51371	POMP	OMIM:601952
HP:0007466	Midfrontal capillary hemangioma	4247	MGAT2	OMIM:212066
HP:0007466	Midfrontal capillary hemangioma	5447	POR	ORPHA:95699
HP:0007468	Perifollicular hyperkeratosis	3887	KRT81	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3889	KRT83	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3892	KRT86	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3122	HLA-DRA	ORPHA:505
HP:0007469	Palmoplantar cutis gyrata	2263	FGFR2	ORPHA:1555
HP:0007469	Palmoplantar cutis gyrata	11285	B4GALT7	ORPHA:75496
HP:0007469	Palmoplantar cutis gyrata	11285	B4GALT7	OMIM:130070
HP:0007470	Periarticular subcutaneous nodules	427	ASAH1	OMIM:228000
HP:0007470	Periarticular subcutaneous nodules	427	ASAH1	ORPHA:333
HP:0007470	Periarticular subcutaneous nodules	55699	IARS2	ORPHA:436174
HP:0007473	Crusting erythematous dermatitis	5184	PEPD	OMIM:170100
HP:0007473	Crusting erythematous dermatitis	5184	PEPD	ORPHA:742
HP:0007473	Crusting erythematous dermatitis	50943	FOXP3	ORPHA:37042
HP:0007473	Crusting erythematous dermatitis	1294	COL7A1	ORPHA:158673
HP:0007475	Congenital bullous ichthyosiform erythroderma	3858	KRT10	ORPHA:312
HP:0007475	Congenital bullous ichthyosiform erythroderma	3858	KRT10	OMIM:607602
HP:0007475	Congenital bullous ichthyosiform erythroderma	3848	KRT1	ORPHA:312
HP:0007475	Congenital bullous ichthyosiform erythroderma	3848	KRT1	OMIM:113800
HP:0007475	Congenital bullous ichthyosiform erythroderma	3849	KRT2	OMIM:146800
HP:0007475	Congenital bullous ichthyosiform erythroderma	3868	KRT16	OMIM:613000
HP:0007476	Anhidrotic ectodermal dysplasia	4792	NFKBIA	OMIM:612132
HP:0007476	Anhidrotic ectodermal dysplasia	8626	TP63	OMIM:129400
HP:0033325	Elevated circulating sebacic acid concentration	7385	UQCRC2	OMIM:615160
HP:0033329	Abnormal postural reflex	80347	COASY	OMIM:615643
HP:0033329	Abnormal postural reflex	11152	WDR45	OMIM:300894
HP:0033328	Type II pneumocyte hyperplasia	6440	SFTPC	OMIM:610913
HP:0007480	Decreased sweating due to autonomic dysfunction	4001	LMNB1	OMIM:169500
HP:0007480	Decreased sweating due to autonomic dysfunction	4001	LMNB1	ORPHA:99027
HP:0007481	Hyperpigmented nevi	55131	RBM28	ORPHA:157954
HP:0007481	Hyperpigmented nevi	4157	MC1R	ORPHA:79432
HP:0007481	Hyperpigmented nevi	4948	OCA2	ORPHA:79432
HP:0007482	Generalized papillary lesions	55806	HR	OMIM:209500
HP:0007483	Depigmentation/hyperpigmentation of skin	207	AKT1	OMIM:176920
HP:0007483	Depigmentation/hyperpigmentation of skin	8239	USP9X	ORPHA:480880
HP:0007483	Depigmentation/hyperpigmentation of skin	3852	KRT5	ORPHA:79396
HP:0007483	Depigmentation/hyperpigmentation of skin	3861	KRT14	ORPHA:79396
HP:0007485	Absence of subcutaneous fat	4000	LMNA	ORPHA:740
HP:0007485	Absence of subcutaneous fat	4000	LMNA	OMIM:176670
HP:0007485	Absence of subcutaneous fat	10269	ZMPSTE24	ORPHA:740
HP:0007485	Absence of subcutaneous fat	857	CAV1	OMIM:606721
HP:0007485	Absence of subcutaneous fat	5295	PIK3R1	OMIM:269880
HP:0007485	Absence of subcutaneous fat	2068	ERCC2	OMIM:601675
HP:0007485	Absence of subcutaneous fat	2068	ERCC2	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	3763	KCNJ6	OMIM:614098
HP:0007485	Absence of subcutaneous fat	5557	PRIM1	OMIM:620005
HP:0007485	Absence of subcutaneous fat	404672	GTF2H5	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	833	CARS1	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	7737	RNF113A	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	136647	MPLKIP	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	6897	TARS1	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2071	ERCC3	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2961	GTF2E2	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2072	ERCC4	OMIM:610965
HP:0007485	Absence of subcutaneous fat	2200	FBN1	OMIM:616914
HP:0007485	Absence of subcutaneous fat	11128	POLR3A	OMIM:264090
HP:0007486	Cavernous hemangioma of the face	157570	ESCO2	OMIM:268300
HP:0007486	Cavernous hemangioma of the face	3417	IDH1	ORPHA:99646
HP:0007509	Patchy hypo- and hyperpigmentation	6611	SMS	ORPHA:3063
HP:0007509	Patchy hypo- and hyperpigmentation	7319	UBE2A	ORPHA:163956
HP:0007509	Patchy hypo- and hyperpigmentation	4000	LMNA	ORPHA:79474
HP:0007488	Diffuse skin atrophy	55612	FERMT1	OMIM:173650
HP:0007488	Diffuse skin atrophy	2934	GSN	ORPHA:85448
HP:0007488	Diffuse skin atrophy	23592	LEMD3	ORPHA:1306
HP:0033332	Elevated circulating amyloid A	4210	MEFV	OMIM:249100
HP:0033332	Elevated circulating amyloid A	3572	IL6ST	OMIM:619750
HP:0033331	Acute phase response	1576	CYP3A4	OMIM:619073
HP:0033331	Acute phase response	5251	PHEX	OMIM:307800
HP:0033331	Acute phase response	79577	CDC73	ORPHA:99880
HP:0033331	Acute phase response	79577	CDC73	ORPHA:99879
HP:0033331	Acute phase response	79577	CDC73	ORPHA:143
HP:0033331	Acute phase response	9365	KL	OMIM:617994
HP:0033331	Acute phase response	1594	CYP27B1	ORPHA:289157
HP:0033331	Acute phase response	1594	CYP27B1	OMIM:264700
HP:0033331	Acute phase response	120227	CYP2R1	ORPHA:289157
HP:0033331	Acute phase response	2778	GNAS	OMIM:612462
HP:0033331	Acute phase response	2778	GNAS	ORPHA:94089
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79443
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79444
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79445
HP:0033331	Acute phase response	2778	GNAS	OMIM:603233
HP:0033331	Acute phase response	2778	GNAS	OMIM:103580
HP:0033331	Acute phase response	4221	MEN1	ORPHA:99879
HP:0033331	Acute phase response	9247	GCM2	ORPHA:99879
HP:0033331	Acute phase response	8675	STX16	ORPHA:94089
HP:0033331	Acute phase response	8675	STX16	OMIM:603233
HP:0033331	Acute phase response	5573	PRKAR1A	ORPHA:280651
HP:0033331	Acute phase response	5573	PRKAR1A	OMIM:101800
HP:0033331	Acute phase response	5144	PDE4D	ORPHA:280651
HP:0033331	Acute phase response	5144	PDE4D	ORPHA:439822
HP:0033331	Acute phase response	149775	GNAS-AS1	OMIM:603233
HP:0033331	Acute phase response	7421	VDR	OMIM:277440
HP:0033331	Acute phase response	6569	SLC34A1	OMIM:613388
HP:0033331	Acute phase response	10686	CLDN16	OMIM:248250
HP:0033331	Acute phase response	4763	NF1	ORPHA:97685
HP:0033331	Acute phase response	846	CASR	OMIM:239200
HP:0033331	Acute phase response	1027	CDKN1B	ORPHA:276152
HP:0033331	Acute phase response	50964	SOST	OMIM:122860
HP:0033331	Acute phase response	9056	SLC7A7	ORPHA:470
HP:0033331	Acute phase response	9056	SLC7A7	OMIM:222700
HP:0033331	Acute phase response	30061	SLC40A1	ORPHA:139491
HP:0033331	Acute phase response	30061	SLC40A1	OMIM:606069
HP:0033331	Acute phase response	55388	MCM10	OMIM:619313
HP:0033331	Acute phase response	54914	FOCAD	OMIM:619991
HP:0033331	Acute phase response	331	XIAP	OMIM:300635
HP:0033331	Acute phase response	55240	STEAP3	OMIM:615234
HP:0033331	Acute phase response	55240	STEAP3	ORPHA:300298
HP:0033331	Acute phase response	1356	CP	OMIM:604290
HP:0033331	Acute phase response	1356	CP	ORPHA:48818
HP:0033331	Acute phase response	148738	HJV	OMIM:602390
HP:0033331	Acute phase response	148738	HJV	ORPHA:79230
HP:0033331	Acute phase response	2495	FTH1	OMIM:615517
HP:0033331	Acute phase response	9780	PIEZO1	OMIM:194380
HP:0033331	Acute phase response	9780	PIEZO1	ORPHA:3202
HP:0033331	Acute phase response	7036	TFR2	OMIM:604250
HP:0033331	Acute phase response	5551	PRF1	ORPHA:540
HP:0033331	Acute phase response	5551	PRF1	OMIM:603553
HP:0033331	Acute phase response	8676	STX11	ORPHA:540
HP:0033331	Acute phase response	8676	STX11	OMIM:603552
HP:0033331	Acute phase response	201294	UNC13D	ORPHA:540
HP:0033331	Acute phase response	6813	STXBP2	ORPHA:540
HP:0033331	Acute phase response	6813	STXBP2	OMIM:613101
HP:0033331	Acute phase response	58484	NLRC4	OMIM:616050
HP:0033331	Acute phase response	2512	FTL	OMIM:600886
HP:0033331	Acute phase response	2512	FTL	ORPHA:254704
HP:0033331	Acute phase response	617	BCS1L	OMIM:603358
HP:0033331	Acute phase response	617	BCS1L	ORPHA:53693
HP:0033331	Acute phase response	6573	SLC19A1	OMIM:601775
HP:0033331	Acute phase response	84868	HAVCR2	OMIM:618398
HP:0033331	Acute phase response	3162	HMOX1	OMIM:614034
HP:0033331	Acute phase response	54977	SLC25A38	OMIM:205950
HP:0033331	Acute phase response	64135	IFIH1	OMIM:615846
HP:0033331	Acute phase response	5294	PIK3CG	OMIM:619802
HP:0033331	Acute phase response	79989	IFT56	OMIM:619534
HP:0033331	Acute phase response	51218	GLRX5	OMIM:616860
HP:0033331	Acute phase response	3458	IFNG	OMIM:618963
HP:0033331	Acute phase response	6773	STAT2	OMIM:618886
HP:0033331	Acute phase response	654	BMP6	ORPHA:465508
HP:0033331	Acute phase response	654	BMP6	OMIM:620121
HP:0033331	Acute phase response	3077	HFE	ORPHA:465508
HP:0033331	Acute phase response	3077	HFE	OMIM:235200
HP:0033331	Acute phase response	57817	HAMP	OMIM:613313
HP:0033331	Acute phase response	57817	HAMP	ORPHA:79230
HP:0033331	Acute phase response	6521	SLC4A1	ORPHA:3202
HP:0033331	Acute phase response	3783	KCNN4	ORPHA:3202
HP:0033331	Acute phase response	5313	PKLR	ORPHA:766
HP:0033331	Acute phase response	1130	LYST	ORPHA:167
HP:0033331	Acute phase response	80324	PUS1	OMIM:600462
HP:0033331	Acute phase response	3043	HBB	ORPHA:231249
HP:0033331	Acute phase response	1371	CPOX	OMIM:618892
HP:0033331	Acute phase response	650	BMP2	OMIM:235200
HP:0033331	Acute phase response	5979	RET	OMIM:162300
HP:0033331	Acute phase response	5979	RET	ORPHA:29072
HP:0033331	Acute phase response	5979	RET	OMIM:171400
HP:0033331	Acute phase response	1026	CDKN1A	ORPHA:652
HP:0033331	Acute phase response	1030	CDKN2B	ORPHA:652
HP:0033331	Acute phase response	1031	CDKN2C	ORPHA:652
HP:0033331	Acute phase response	7428	VHL	ORPHA:29072
HP:0033331	Acute phase response	1743	DLST	ORPHA:29072
HP:0033331	Acute phase response	4191	MDH2	ORPHA:29072
HP:0033331	Acute phase response	6389	SDHA	ORPHA:29072
HP:0033331	Acute phase response	23095	KIF1B	ORPHA:29072
HP:0033331	Acute phase response	2271	FH	ORPHA:29072
HP:0033331	Acute phase response	8402	SLC25A11	ORPHA:29072
HP:0033331	Acute phase response	54949	SDHAF2	ORPHA:29072
HP:0033331	Acute phase response	55654	TMEM127	ORPHA:29072
HP:0033331	Acute phase response	6391	SDHC	ORPHA:29072
HP:0033331	Acute phase response	6392	SDHD	ORPHA:29072
HP:0033331	Acute phase response	6390	SDHB	ORPHA:29072
HP:0033331	Acute phase response	4149	MAX	ORPHA:29072
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:397
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:85410
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:900
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:85408
HP:0033331	Acute phase response	26191	PTPN22	OMIM:180300
HP:0033331	Acute phase response	3106	HLA-B	ORPHA:397
HP:0033331	Acute phase response	3123	HLA-DRB1	ORPHA:397
HP:0033331	Acute phase response	3123	HLA-DRB1	ORPHA:85414
HP:0033331	Acute phase response	3123	HLA-DRB1	OMIM:181000
HP:0033331	Acute phase response	8974	P4HA2	ORPHA:397
HP:0033331	Acute phase response	9663	LPIN2	OMIM:609628
HP:0033331	Acute phase response	144811	LACC1	ORPHA:85414
HP:0033331	Acute phase response	4282	MIF	ORPHA:85414
HP:0033331	Acute phase response	3569	IL6	ORPHA:85414
HP:0033331	Acute phase response	29775	CARD10	OMIM:619632
HP:0033331	Acute phase response	11277	TREX1	OMIM:192315
HP:0033331	Acute phase response	11277	TREX1	OMIM:610448
HP:0033331	Acute phase response	6775	STAT4	ORPHA:85410
HP:0033331	Acute phase response	6775	STAT4	ORPHA:93552
HP:0033331	Acute phase response	6775	STAT4	ORPHA:85408
HP:0033331	Acute phase response	3560	IL2RB	ORPHA:85410
HP:0033331	Acute phase response	3560	IL2RB	ORPHA:85408
HP:0033331	Acute phase response	79722	ANKRD55	ORPHA:85410
HP:0033331	Acute phase response	79722	ANKRD55	ORPHA:85408
HP:0033331	Acute phase response	919	CD247	ORPHA:85410
HP:0033331	Acute phase response	919	CD247	ORPHA:85408
HP:0033331	Acute phase response	3559	IL2RA	ORPHA:85410
HP:0033331	Acute phase response	3559	IL2RA	ORPHA:85408
HP:0033331	Acute phase response	5771	PTPN2	ORPHA:85410
HP:0033331	Acute phase response	5771	PTPN2	ORPHA:85408
HP:0033331	Acute phase response	3702	ITK	OMIM:613011
HP:0033331	Acute phase response	114548	NLRP3	OMIM:191900
HP:0033331	Acute phase response	114548	NLRP3	OMIM:607115
HP:0033331	Acute phase response	114548	NLRP3	ORPHA:575
HP:0033331	Acute phase response	114548	NLRP3	ORPHA:1451
HP:0033331	Acute phase response	27178	IL37	OMIM:619398
HP:0033331	Acute phase response	4598	MVK	OMIM:260920
HP:0033331	Acute phase response	4598	MVK	ORPHA:343
HP:0033331	Acute phase response	4598	MVK	OMIM:610377
HP:0033331	Acute phase response	5580	PRKCD	OMIM:615559
HP:0033331	Acute phase response	6696	SPP1	ORPHA:93552
HP:0033331	Acute phase response	3654	IRAK1	ORPHA:93552
HP:0033331	Acute phase response	1493	CTLA4	ORPHA:900
HP:0033331	Acute phase response	3115	HLA-DPB1	ORPHA:900
HP:0033331	Acute phase response	5657	PRTN3	ORPHA:900
HP:0033331	Acute phase response	3113	HLA-DPA1	ORPHA:900
HP:0033331	Acute phase response	7040	TGFB1	ORPHA:1328
HP:0033331	Acute phase response	4210	MEFV	ORPHA:342
HP:0033331	Acute phase response	4210	MEFV	OMIM:249100
HP:0033331	Acute phase response	4210	MEFV	ORPHA:3243
HP:0033331	Acute phase response	4210	MEFV	OMIM:608068
HP:0033331	Acute phase response	55315	SLC29A3	OMIM:602782
HP:0033331	Acute phase response	7317	UBA1	OMIM:301054
HP:0033331	Acute phase response	57169	ZNFX1	OMIM:619644
HP:0033331	Acute phase response	1314	COPA	OMIM:616414
HP:0033331	Acute phase response	51816	ADA2	OMIM:615688
HP:0033331	Acute phase response	3459	IFNGR1	OMIM:209950
HP:0033331	Acute phase response	843	CASP10	OMIM:603909
HP:0033331	Acute phase response	3557	IL1RN	OMIM:612852
HP:0033331	Acute phase response	91662	NLRP12	OMIM:611762
HP:0033331	Acute phase response	7132	TNFRSF1A	ORPHA:32960
HP:0033331	Acute phase response	7132	TNFRSF1A	OMIM:142680
HP:0033331	Acute phase response	51371	POMP	OMIM:618048
HP:0033331	Acute phase response	5692	PSMB4	OMIM:617591
HP:0033331	Acute phase response	5698	PSMB9	OMIM:617591
HP:0033331	Acute phase response	3930	LBR	OMIM:613471
HP:0033331	Acute phase response	340061	STING1	OMIM:615934
HP:0033331	Acute phase response	10095	ARPC1B	OMIM:617718
HP:0033331	Acute phase response	6583	SLC22A4	OMIM:180300
HP:0033331	Acute phase response	4261	CIITA	OMIM:180300
HP:0033331	Acute phase response	51744	CD244	OMIM:180300
HP:0033331	Acute phase response	4795	NFKBIL1	OMIM:180300
HP:0033331	Acute phase response	3586	IL10	OMIM:180300
HP:0033331	Acute phase response	2000	ELF4	OMIM:301074
HP:0033331	Acute phase response	4615	MYD88	ORPHA:33226
HP:0033331	Acute phase response	64127	NOD2	OMIM:617321
HP:0033331	Acute phase response	4689	NCF4	OMIM:613960
HP:0033331	Acute phase response	5696	PSMB8	OMIM:256040
HP:0033331	Acute phase response	9051	PSTPIP1	OMIM:604416
HP:0033331	Acute phase response	3689	ITGB2	OMIM:116920
HP:0033331	Acute phase response	90268	OTULIN	OMIM:617099
HP:0033331	Acute phase response	22861	NLRP1	OMIM:617388
HP:0033331	Acute phase response	4068	SH2D1A	OMIM:308240
HP:0033331	Acute phase response	50619	DEF6	OMIM:619573
HP:0033331	Acute phase response	26525	IL36RN	OMIM:614204
HP:0033331	Acute phase response	6850	SYK	OMIM:619381
HP:0033331	Acute phase response	205327	C2orf69	OMIM:619423
HP:0033331	Acute phase response	11330	CTRC	ORPHA:676
HP:0033331	Acute phase response	5644	PRSS1	ORPHA:676
HP:0033331	Acute phase response	5645	PRSS2	ORPHA:676
HP:0033331	Acute phase response	6690	SPINK1	ORPHA:676
HP:0033331	Acute phase response	1080	CFTR	ORPHA:676
HP:0033331	Acute phase response	1357	CPA1	ORPHA:676
HP:0033331	Acute phase response	7187	TRAF3	ORPHA:1930
HP:0033331	Acute phase response	81622	UNC93B1	ORPHA:1930
HP:0033331	Acute phase response	148022	TICAM1	ORPHA:1930
HP:0033331	Acute phase response	7098	TLR3	ORPHA:1930
HP:0033331	Acute phase response	29110	TBK1	ORPHA:1930
HP:0033331	Acute phase response	5741	PTH	OMIM:146200
HP:0033331	Acute phase response	1591	CYP24A1	OMIM:143880
HP:0033331	Acute phase response	6899	TBX1	OMIM:188400
HP:0033331	Acute phase response	142680	SLC34A3	ORPHA:157215
HP:0033331	Acute phase response	142680	SLC34A3	OMIM:241530
HP:0033331	Acute phase response	326	AIRE	OMIM:240300
HP:0033331	Acute phase response	6905	TBCE	OMIM:241410
HP:0033331	Acute phase response	164656	TMPRSS6	OMIM:206200
HP:0033331	Acute phase response	135	ADORA2A	ORPHA:363549
HP:0033331	Acute phase response	56984	PSMG2	OMIM:619183
HP:0033331	Acute phase response	5699	PSMB10	OMIM:619175
HP:0033331	Acute phase response	3572	IL6ST	OMIM:619750
HP:0033331	Acute phase response	100151683	RNU4ATAC	ORPHA:2636
HP:0033331	Acute phase response	54757	FAM20A	ORPHA:1031
HP:0033331	Acute phase response	55503	TRPV6	ORPHA:417
HP:0033331	Acute phase response	149461	CLDN19	ORPHA:2196
HP:0033331	Acute phase response	4952	OCRL	ORPHA:534
HP:0033334	Abnormal embryonic development	286151	FBXO43	OMIM:619697
HP:0033334	Abnormal embryonic development	54766	BTG4	OMIM:619009
HP:0033334	Abnormal embryonic development	9319	TRIP13	OMIM:619011
HP:0033334	Abnormal embryonic development	80726	IQCN	OMIM:620170
HP:0033334	Abnormal embryonic development	678	ZFP36L2	OMIM:620154
HP:0033334	Abnormal embryonic development	283677	REC114	OMIM:619176
HP:0033333	Jaw contracture	1272	CNTN1	OMIM:612540
HP:0033336	Zygotic cleavage failure	54766	BTG4	OMIM:619009
HP:0033336	Zygotic cleavage failure	9319	TRIP13	OMIM:619011
HP:0033335	Abnormal preimplantation embryonic development	286151	FBXO43	OMIM:619697
HP:0033335	Abnormal preimplantation embryonic development	54766	BTG4	OMIM:619009
HP:0033335	Abnormal preimplantation embryonic development	9319	TRIP13	OMIM:619011
HP:0033335	Abnormal preimplantation embryonic development	80726	IQCN	OMIM:620170
HP:0033335	Abnormal preimplantation embryonic development	678	ZFP36L2	OMIM:620154
HP:0033335	Abnormal preimplantation embryonic development	283677	REC114	OMIM:619176
HP:0033338	Abnormal female meiosis	197135	PATL2	OMIM:617743
HP:0033338	Abnormal female meiosis	197135	PATL2	ORPHA:488191
HP:0033338	Abnormal female meiosis	347688	TUBB8	OMIM:616780
HP:0033338	Abnormal female meiosis	347688	TUBB8	ORPHA:488191
HP:0033338	Abnormal female meiosis	9319	TRIP13	OMIM:619011
HP:0033338	Abnormal female meiosis	24145	PANX1	ORPHA:488191
HP:0033338	Abnormal female meiosis	494551	WEE2	ORPHA:488191
HP:0033337	Abnormal gametogenesis	24145	PANX1	ORPHA:488191
HP:0033337	Abnormal gametogenesis	494551	WEE2	ORPHA:488191
HP:0033337	Abnormal gametogenesis	197135	PATL2	ORPHA:488191
HP:0033337	Abnormal gametogenesis	347688	TUBB8	ORPHA:488191
HP:0033337	Abnormal gametogenesis	9319	TRIP13	OMIM:619011
HP:0033339	Increased circulating inosine concentration	4860	PNP	OMIM:613179
HP:0033340	Increased circulating guanosine concentration	4860	PNP	OMIM:613179
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	51371	POMP	OMIM:601952
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3868	KRT16	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3872	KRT17	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3853	KRT6A	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3854	KRT6B	ORPHA:2309
HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	3852	KRT5	OMIM:131960
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0007499	Recurrent staphylococcal infections	4914	NTRK1	ORPHA:642
HP:0007499	Recurrent staphylococcal infections	6804	STX1A	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	2947	GSTM3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	7040	TGFB1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	2729	GCLC	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1084	CEACAM3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	6556	SLC11A1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	51164	DCTN4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3783	KCNN4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	4282	MIF	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1909	EDNRA	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	6550	SLC9A3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3162	HMOX1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	115019	SLC26A9	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3077	HFE	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	11254	SLC6A14	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	5265	SERPINA1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1080	CFTR	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	22802	CLCA4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	4680	CEACAM6	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1536	CYBB	OMIM:306400
HP:0007499	Recurrent staphylococcal infections	5994	RFXAP	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	4261	CIITA	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	5993	RFX5	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	8625	RFXANK	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	6774	STAT3	OMIM:147060
HP:0007499	Recurrent staphylococcal infections	8547	FCN3	OMIM:613860
HP:0007499	Recurrent staphylococcal infections	4688	NCF2	OMIM:233710
HP:0007499	Recurrent staphylococcal infections	653361	NCF1	OMIM:233700
HP:0007499	Recurrent staphylococcal infections	23765	IL17RA	OMIM:613953
HP:0007499	Recurrent staphylococcal infections	1535	CYBA	OMIM:233690
HP:0007499	Recurrent staphylococcal infections	5238	PGM3	OMIM:615816
HP:0007499	Recurrent staphylococcal infections	1130	LYST	ORPHA:167
HP:0007499	Recurrent staphylococcal infections	3689	ITGB2	OMIM:116920
HP:0007499	Recurrent staphylococcal infections	51135	IRAK4	OMIM:607676
HP:0007499	Recurrent staphylococcal infections	51135	IRAK4	ORPHA:70592
HP:0033341	Elevated circulating sitosterol concentration	64240	ABCG5	OMIM:618666
HP:0033341	Elevated circulating sitosterol concentration	64241	ABCG8	OMIM:210250
HP:0033343	Mucoid diarrhea	59067	IL21	OMIM:615767
HP:0033342	Anti-aquaporin 4 antibody positivity	51284	TLR7	OMIM:301080
HP:0033345	Neuralgia	5621	PRNP	ORPHA:282166
HP:0033345	Neuralgia	79628	SH3TC2	ORPHA:99949
HP:0033345	Neuralgia	8314	BAP1	ORPHA:2495
HP:0033345	Neuralgia	4771	NF2	ORPHA:2495
HP:0033345	Neuralgia	6598	SMARCB1	ORPHA:2495
HP:0033345	Neuralgia	5155	PDGFB	ORPHA:2495
HP:0033345	Neuralgia	84231	TRAF7	ORPHA:2495
HP:0033345	Neuralgia	6608	SMO	ORPHA:2495
HP:0033345	Neuralgia	207	AKT1	ORPHA:2495
HP:0033345	Neuralgia	5290	PIK3CA	ORPHA:2495
HP:0033345	Neuralgia	7015	TERT	ORPHA:2495
HP:0033345	Neuralgia	51684	SUFU	ORPHA:2495
HP:0033345	Neuralgia	6605	SMARCE1	ORPHA:2495
HP:0033347	Cognitive epileptic aura	51083	GAL	OMIM:616461
HP:0033346	Psychic epileptic aura	5138	PDE2A	ORPHA:31709
HP:0033346	Psychic epileptic aura	6334	SCN8A	ORPHA:31709
HP:0033346	Psychic epileptic aura	112476	PRRT2	ORPHA:31709
HP:0033346	Psychic epileptic aura	5649	RELN	OMIM:600512
HP:0033346	Psychic epileptic aura	64780	MICAL1	OMIM:600512
HP:0033346	Psychic epileptic aura	9211	LGI1	OMIM:600512
HP:0033346	Psychic epileptic aura	8131	NPRL3	ORPHA:98820
HP:0033346	Psychic epileptic aura	10641	NPRL2	ORPHA:98820
HP:0033346	Psychic epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0033346	Psychic epileptic aura	51083	GAL	OMIM:616461
HP:0033349	Seizure cluster	8243	SMC1A	OMIM:301044
HP:0033349	Seizure cluster	135	ADORA2A	ORPHA:363549
HP:0033348	Epileptic aura	3736	KCNA1	ORPHA:98809
HP:0033348	Epileptic aura	112476	PRRT2	ORPHA:98809
HP:0033348	Epileptic aura	112476	PRRT2	OMIM:602066
HP:0033348	Epileptic aura	112476	PRRT2	ORPHA:569
HP:0033348	Epileptic aura	9289	ADGRG1	ORPHA:98889
HP:0033348	Epileptic aura	5297	PI4KA	ORPHA:98889
HP:0033348	Epileptic aura	27286	SRPX2	ORPHA:98889
HP:0033348	Epileptic aura	773	CACNA1A	ORPHA:569
HP:0033348	Epileptic aura	6323	SCN1A	ORPHA:569
HP:0033348	Epileptic aura	477	ATP1A2	ORPHA:569
HP:0033348	Epileptic aura	11277	TREX1	ORPHA:247691
HP:0033348	Epileptic aura	7957	EPM2A	OMIM:254780
HP:0033348	Epileptic aura	7957	EPM2A	ORPHA:501
HP:0033348	Epileptic aura	378884	NHLRC1	OMIM:254780
HP:0033348	Epileptic aura	378884	NHLRC1	ORPHA:501
HP:0033348	Epileptic aura	6900	CNTN2	OMIM:615400
HP:0033348	Epileptic aura	5138	PDE2A	ORPHA:31709
HP:0033348	Epileptic aura	6334	SCN8A	ORPHA:31709
HP:0033348	Epileptic aura	51083	GAL	OMIM:616461
HP:0033348	Epileptic aura	8131	NPRL3	ORPHA:98820
HP:0033348	Epileptic aura	10641	NPRL2	ORPHA:98820
HP:0033348	Epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0033348	Epileptic aura	5649	RELN	OMIM:600512
HP:0033348	Epileptic aura	64780	MICAL1	OMIM:600512
HP:0033348	Epileptic aura	9211	LGI1	OMIM:600512
HP:0033348	Epileptic aura	57526	PCDH19	OMIM:300088
HP:0033351	Candida esophagitis	5293	PIK3CD	OMIM:619281
HP:0033351	Candida esophagitis	84818	IL17RC	OMIM:616445
HP:0033351	Candida esophagitis	7040	TGFB1	OMIM:618213
HP:0033353	Abnormal blood vessel morphology	5295	PIK3R1	OMIM:269880
HP:0033353	Abnormal blood vessel morphology	10269	ZMPSTE24	OMIM:608612
HP:0033353	Abnormal blood vessel morphology	716	C1S	OMIM:617174
HP:0033353	Abnormal blood vessel morphology	165	AEBP1	OMIM:618000
HP:0033353	Abnormal blood vessel morphology	29957	SLC25A24	OMIM:612289
HP:0033353	Abnormal blood vessel morphology	92579	G6PC3	OMIM:612541
HP:0033353	Abnormal blood vessel morphology	8815	BANF1	OMIM:614008
HP:0033353	Abnormal blood vessel morphology	5831	PYCR1	OMIM:612940
HP:0033353	Abnormal blood vessel morphology	5831	PYCR1	OMIM:614438
HP:0033353	Abnormal blood vessel morphology	5468	PPARG	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	5468	PPARG	OMIM:604367
HP:0033353	Abnormal blood vessel morphology	10555	AGPAT2	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	284119	CAVIN1	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	26580	BSCL2	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	2353	FOS	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	857	CAV1	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	25839	COG4	OMIM:618150
HP:0033353	Abnormal blood vessel morphology	715	C1R	OMIM:130080
HP:0033353	Abnormal blood vessel morphology	221496	LEMD2	OMIM:619322
HP:0033353	Abnormal blood vessel morphology	5159	PDGFRB	OMIM:601812
HP:0033353	Abnormal blood vessel morphology	91252	SLC39A13	OMIM:612350
HP:0033353	Abnormal blood vessel morphology	529	ATP6V1E1	OMIM:617402
HP:0033353	Abnormal blood vessel morphology	84919	PPP1R15B	OMIM:616817
HP:0033353	Abnormal blood vessel morphology	7424	VEGFC	OMIM:615907
HP:0033353	Abnormal blood vessel morphology	84168	ANTXR1	OMIM:230740
HP:0033353	Abnormal blood vessel morphology	9791	PTDSS1	OMIM:151050
HP:0033353	Abnormal blood vessel morphology	11128	POLR3A	OMIM:264090
HP:0033353	Abnormal blood vessel morphology	11128	POLR3A	ORPHA:3455
HP:0033353	Abnormal blood vessel morphology	1282	COL4A1	OMIM:180000
HP:0033353	Abnormal blood vessel morphology	1282	COL4A1	OMIM:611773
HP:0033353	Abnormal blood vessel morphology	1282	COL4A1	OMIM:175780
HP:0033353	Abnormal blood vessel morphology	6804	STX1A	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	7461	CLIP2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	84277	DNAJC30	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	8468	FKBP6	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	5982	RFC2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	2969	GTF2I	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	3984	LIMK1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	9569	GTF2IRD1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	155382	VPS37D	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	155368	METTL27	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	114049	BUD23	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	7458	EIF4H	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	84163	GTF2IRD2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	9275	BCL7B	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	26608	TBL2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	653361	NCF1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	135886	TMEM270	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	51085	MLXIPL	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	51085	MLXIPL	OMIM:194050
HP:0033353	Abnormal blood vessel morphology	9031	BAZ1B	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	4693	NDP	ORPHA:90050
HP:0033353	Abnormal blood vessel morphology	4041	LRP5	ORPHA:90050
HP:0033353	Abnormal blood vessel morphology	8322	FZD4	ORPHA:90050
HP:0033353	Abnormal blood vessel morphology	4508	MT-ATP6	ORPHA:644
HP:0033353	Abnormal blood vessel morphology	1312	COMT	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	221037	JMJD1C	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	2812	GP1BB	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	6239	RREB1	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	6899	TBX1	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	7290	HIRA	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	9632	SEC24C	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	7353	UFD1	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	421	ARVCF	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	5885	RAD21	OMIM:614701
HP:0033353	Abnormal blood vessel morphology	7355	SLC35A2	ORPHA:356961
HP:0033353	Abnormal blood vessel morphology	23414	ZFPM2	ORPHA:3303
HP:0033353	Abnormal blood vessel morphology	23414	ZFPM2	OMIM:187500
HP:0033353	Abnormal blood vessel morphology	3791	KDR	ORPHA:3303
HP:0033353	Abnormal blood vessel morphology	8443	GNPAT	OMIM:222765
HP:0033353	Abnormal blood vessel morphology	26275	HIBCH	ORPHA:88639
HP:0033353	Abnormal blood vessel morphology	26275	HIBCH	OMIM:250620
HP:0033353	Abnormal blood vessel morphology	29998	BICRA	OMIM:619325
HP:0033353	Abnormal blood vessel morphology	83479	DDX59	OMIM:174300
HP:0033353	Abnormal blood vessel morphology	83479	DDX59	ORPHA:2919
HP:0033353	Abnormal blood vessel morphology	51684	SUFU	ORPHA:280200
HP:0033353	Abnormal blood vessel morphology	1147	CHUK	OMIM:613630
HP:0033353	Abnormal blood vessel morphology	7852	CXCR4	ORPHA:51636
HP:0033353	Abnormal blood vessel morphology	8092	ALX1	ORPHA:306542
HP:0033353	Abnormal blood vessel morphology	3579	CXCR2	OMIM:619407
HP:0033353	Abnormal blood vessel morphology	2542	SLC37A4	OMIM:619525
HP:0033353	Abnormal blood vessel morphology	10084	PQBP1	OMIM:309500
HP:0033353	Abnormal blood vessel morphology	1663	DDX11	OMIM:613398
HP:0033353	Abnormal blood vessel morphology	257	ALX3	OMIM:136760
HP:0033353	Abnormal blood vessel morphology	27152	INTU	OMIM:617925
HP:0033353	Abnormal blood vessel morphology	27152	INTU	OMIM:617926
HP:0033353	Abnormal blood vessel morphology	51126	NAA20	OMIM:619717
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	OMIM:169100
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	ORPHA:46627
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	OMIM:617035
HP:0033353	Abnormal blood vessel morphology	1131	CHRM3	ORPHA:2970
HP:0033353	Abnormal blood vessel morphology	1131	CHRM3	OMIM:100100
HP:0033353	Abnormal blood vessel morphology	9578	CDC42BPB	OMIM:619841
HP:0033353	Abnormal blood vessel morphology	8942	KYNU	OMIM:617661
HP:0033353	Abnormal blood vessel morphology	55790	CSGALNACT1	OMIM:618870
HP:0033353	Abnormal blood vessel morphology	65082	VPS33A	OMIM:617303
HP:0033353	Abnormal blood vessel morphology	65082	VPS33A	ORPHA:505248
HP:0033353	Abnormal blood vessel morphology	55690	PACS1	OMIM:615009
HP:0033353	Abnormal blood vessel morphology	55690	PACS1	ORPHA:329224
HP:0033353	Abnormal blood vessel morphology	9200	HACD1	OMIM:619967
HP:0033353	Abnormal blood vessel morphology	3764	KCNJ8	ORPHA:1517
HP:0033353	Abnormal blood vessel morphology	10060	ABCC9	ORPHA:1517
HP:0033353	Abnormal blood vessel morphology	10060	ABCC9	OMIM:239850
HP:0033353	Abnormal blood vessel morphology	7086	TKT	ORPHA:488618
HP:0033353	Abnormal blood vessel morphology	7086	TKT	OMIM:617044
HP:0033353	Abnormal blood vessel morphology	57231	SNX14	ORPHA:397709
HP:0033353	Abnormal blood vessel morphology	5189	PEX1	OMIM:214100
HP:0033353	Abnormal blood vessel morphology	25885	POLR1A	OMIM:616462
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:1860
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:93274
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:2363
HP:0033353	Abnormal blood vessel morphology	7994	KAT6A	ORPHA:457193
HP:0033353	Abnormal blood vessel morphology	7994	KAT6A	OMIM:616268
HP:0033353	Abnormal blood vessel morphology	8726	EED	OMIM:617561
HP:0033353	Abnormal blood vessel morphology	203286	ANKS6	OMIM:615382
HP:0033353	Abnormal blood vessel morphology	22884	WDR37	OMIM:618652
HP:0033353	Abnormal blood vessel morphology	57178	ZMIZ1	OMIM:618659
HP:0033353	Abnormal blood vessel morphology	8550	MAPKAPK5	OMIM:619869
HP:0033353	Abnormal blood vessel morphology	5950	RBP4	OMIM:615147
HP:0033353	Abnormal blood vessel morphology	3782	KCNN3	OMIM:618658
HP:0033353	Abnormal blood vessel morphology	2296	FOXC1	OMIM:602482
HP:0033353	Abnormal blood vessel morphology	81794	ADAMTS10	OMIM:277600
HP:0033353	Abnormal blood vessel morphology	3476	IGBP1	ORPHA:52055
HP:0033353	Abnormal blood vessel morphology	3476	IGBP1	OMIM:300472
HP:0033353	Abnormal blood vessel morphology	51604	PIGT	OMIM:615398
HP:0033353	Abnormal blood vessel morphology	51604	PIGT	ORPHA:369837
HP:0033353	Abnormal blood vessel morphology	23126	POGZ	OMIM:616364
HP:0033353	Abnormal blood vessel morphology	213	ALB	OMIM:616000
HP:0033353	Abnormal blood vessel morphology	3481	IGF2	OMIM:616489
HP:0033353	Abnormal blood vessel morphology	57863	CADM3	OMIM:619519
HP:0033353	Abnormal blood vessel morphology	286	ANK1	ORPHA:251066
HP:0033353	Abnormal blood vessel morphology	1859	DYRK1A	ORPHA:464311
HP:0033353	Abnormal blood vessel morphology	4247	MGAT2	ORPHA:79329
HP:0033353	Abnormal blood vessel morphology	7750	ZMYM2	OMIM:619522
HP:0033353	Abnormal blood vessel morphology	79971	WLS	OMIM:619648
HP:0033353	Abnormal blood vessel morphology	51341	ZBTB7A	OMIM:619769
HP:0033353	Abnormal blood vessel morphology	775	CACNA1C	OMIM:601005
HP:0033353	Abnormal blood vessel morphology	79087	ALG12	ORPHA:79324
HP:0033353	Abnormal blood vessel morphology	79087	ALG12	OMIM:607143
HP:0033353	Abnormal blood vessel morphology	51117	COQ4	OMIM:616276
HP:0033353	Abnormal blood vessel morphology	1523	CUX1	OMIM:618330
HP:0033353	Abnormal blood vessel morphology	27429	HTRA2	OMIM:617248
HP:0033353	Abnormal blood vessel morphology	5062	PAK2	OMIM:618458
HP:0033353	Abnormal blood vessel morphology	5062	PAK2	ORPHA:1571
HP:0033353	Abnormal blood vessel morphology	9949	AMMECR1	OMIM:300990
HP:0033353	Abnormal blood vessel morphology	9949	AMMECR1	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	10102	TSFM	OMIM:610505
HP:0033353	Abnormal blood vessel morphology	7372	UMPS	ORPHA:30
HP:0033353	Abnormal blood vessel morphology	23395	LARS2	OMIM:617021
HP:0033353	Abnormal blood vessel morphology	9126	SMC3	OMIM:610759
HP:0033353	Abnormal blood vessel morphology	79068	FTO	OMIM:612938
HP:0033353	Abnormal blood vessel morphology	8626	TP63	OMIM:106260
HP:0033353	Abnormal blood vessel morphology	170302	ARX	ORPHA:452
HP:0033353	Abnormal blood vessel morphology	4784	NFIX	OMIM:602535
HP:0033353	Abnormal blood vessel morphology	2530	FUT8	OMIM:618005
HP:0033353	Abnormal blood vessel morphology	11274	USP18	OMIM:617397
HP:0033353	Abnormal blood vessel morphology	93166	PRDM6	OMIM:617039
HP:0033353	Abnormal blood vessel morphology	27031	NPHP3	OMIM:267010
HP:0033353	Abnormal blood vessel morphology	27031	NPHP3	OMIM:208540
HP:0033353	Abnormal blood vessel morphology	9496	TBX4	ORPHA:261279
HP:0033353	Abnormal blood vessel morphology	1760	DMPK	ORPHA:589821
HP:0033353	Abnormal blood vessel morphology	5277	PIGA	OMIM:300868
HP:0033353	Abnormal blood vessel morphology	4990	SIX6	OMIM:206900
HP:0033353	Abnormal blood vessel morphology	6657	SOX2	OMIM:206900
HP:0033353	Abnormal blood vessel morphology	6657	SOX2	ORPHA:77298
HP:0033353	Abnormal blood vessel morphology	9321	TRIP11	ORPHA:166272
HP:0033353	Abnormal blood vessel morphology	54809	SAMD9	OMIM:617053
HP:0033353	Abnormal blood vessel morphology	57003	CCDC47	OMIM:618268
HP:0033353	Abnormal blood vessel morphology	57061	HYMAI	ORPHA:96191
HP:0033353	Abnormal blood vessel morphology	5325	PLAGL1	ORPHA:96191
HP:0033353	Abnormal blood vessel morphology	64840	PORCN	ORPHA:2092
HP:0033353	Abnormal blood vessel morphology	348180	CTU2	OMIM:618142
HP:0033353	Abnormal blood vessel morphology	26005	C2CD3	ORPHA:434179
HP:0033353	Abnormal blood vessel morphology	26005	C2CD3	OMIM:615948
HP:0033353	Abnormal blood vessel morphology	3248	HPGD	OMIM:259100
HP:0033353	Abnormal blood vessel morphology	84172	POLR1B	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	9533	POLR1C	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	51082	POLR1D	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	6949	TCOF1	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	7204	TRIO	OMIM:617061
HP:0033353	Abnormal blood vessel morphology	4841	NONO	OMIM:300967
HP:0033353	Abnormal blood vessel morphology	4841	NONO	ORPHA:466791
HP:0033353	Abnormal blood vessel morphology	8239	USP9X	OMIM:300968
HP:0033353	Abnormal blood vessel morphology	8239	USP9X	ORPHA:480880
HP:0033353	Abnormal blood vessel morphology	6299	SALL1	ORPHA:857
HP:0033353	Abnormal blood vessel morphology	51339	DACT1	ORPHA:857
HP:0033353	Abnormal blood vessel morphology	55252	ASXL2	OMIM:617190
HP:0033353	Abnormal blood vessel morphology	23387	SIK3	OMIM:618162
HP:0033353	Abnormal blood vessel morphology	6748	SSR4	ORPHA:370927
HP:0033353	Abnormal blood vessel morphology	89970	RSPRY1	ORPHA:457395
HP:0033353	Abnormal blood vessel morphology	5557	PRIM1	OMIM:620005
HP:0033353	Abnormal blood vessel morphology	23522	KAT6B	ORPHA:3047
HP:0033353	Abnormal blood vessel morphology	27161	AGO2	OMIM:619149
HP:0033353	Abnormal blood vessel morphology	10262	SF3B4	OMIM:154400
HP:0033353	Abnormal blood vessel morphology	55503	TRPV6	OMIM:618188
HP:0033353	Abnormal blood vessel morphology	57539	WDR35	OMIM:613610
HP:0033353	Abnormal blood vessel morphology	51506	UFC1	OMIM:618076
HP:0033353	Abnormal blood vessel morphology	6812	STXBP1	ORPHA:495818
HP:0033353	Abnormal blood vessel morphology	55788	LMBRD1	OMIM:277380
HP:0033353	Abnormal blood vessel morphology	10225	CD96	OMIM:211750
HP:0033353	Abnormal blood vessel morphology	57492	ARID1B	OMIM:135900
HP:0033353	Abnormal blood vessel morphology	57492	ARID1B	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	1889	ECE1	OMIM:613870
HP:0033353	Abnormal blood vessel morphology	132158	GLYCTK	OMIM:220120
HP:0033353	Abnormal blood vessel morphology	55148	UBR7	OMIM:619189
HP:0033353	Abnormal blood vessel morphology	51021	MRPS16	OMIM:610498
HP:0033353	Abnormal blood vessel morphology	657	BMPR1A	ORPHA:79076
HP:0033353	Abnormal blood vessel morphology	79053	ALG8	OMIM:608104
HP:0033353	Abnormal blood vessel morphology	54499	TMCO1	OMIM:213980
HP:0033353	Abnormal blood vessel morphology	23137	SMC5	OMIM:620185
HP:0033353	Abnormal blood vessel morphology	79228	THOC6	ORPHA:363444
HP:0033353	Abnormal blood vessel morphology	79228	THOC6	OMIM:613680
HP:0033353	Abnormal blood vessel morphology	4094	MAF	ORPHA:1272
HP:0033353	Abnormal blood vessel morphology	2263	FGFR2	ORPHA:2363
HP:0033353	Abnormal blood vessel morphology	2255	FGF10	ORPHA:2363
HP:0033353	Abnormal blood vessel morphology	8813	DPM1	OMIM:608799
HP:0033353	Abnormal blood vessel morphology	2146	EZH2	OMIM:277590
HP:0033353	Abnormal blood vessel morphology	8195	MKKS	ORPHA:2473
HP:0033353	Abnormal blood vessel morphology	157570	ESCO2	OMIM:268300
HP:0033353	Abnormal blood vessel morphology	11020	IFT27	OMIM:615996
HP:0033353	Abnormal blood vessel morphology	5648	MASP1	OMIM:257920
HP:0033353	Abnormal blood vessel morphology	85358	SHANK3	OMIM:606232
HP:0033353	Abnormal blood vessel morphology	1837	DTNA	OMIM:604169
HP:0033353	Abnormal blood vessel morphology	113179	ADAT3	ORPHA:363528
HP:0033353	Abnormal blood vessel morphology	4297	KMT2A	OMIM:605130
HP:0033353	Abnormal blood vessel morphology	388753	COA6	OMIM:616501
HP:0033353	Abnormal blood vessel morphology	6598	SMARCB1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6659	SOX4	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	8289	ARID1A	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	5977	DPF2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6601	SMARCC2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6602	SMARCD1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	196528	ARID2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6605	SMARCE1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6664	SOX11	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	51008	ASCC1	OMIM:616867
HP:0033353	Abnormal blood vessel morphology	9325	TRIP4	OMIM:616866
HP:0033353	Abnormal blood vessel morphology	57511	COG6	OMIM:614576
HP:0033353	Abnormal blood vessel morphology	80781	COL18A1	ORPHA:1571
HP:0033353	Abnormal blood vessel morphology	80781	COL18A1	OMIM:267750
HP:0033353	Abnormal blood vessel morphology	6638	SNRPN	ORPHA:177907
HP:0033353	Abnormal blood vessel morphology	59336	PRDM13	OMIM:619909
HP:0033353	Abnormal blood vessel morphology	60	ACTB	OMIM:243310
HP:0033353	Abnormal blood vessel morphology	6628	SNRPB	OMIM:117650
HP:0033353	Abnormal blood vessel morphology	23630	KCNE5	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	2182	ACSL4	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	7291	TWIST1	OMIM:617746
HP:0033353	Abnormal blood vessel morphology	100506658	OCLN	OMIM:251290
HP:0033353	Abnormal blood vessel morphology	93649	MYOCD	OMIM:618719
HP:0033353	Abnormal blood vessel morphology	5331	PLCB3	OMIM:618961
HP:0033353	Abnormal blood vessel morphology	153241	CEP120	OMIM:616300
HP:0033353	Abnormal blood vessel morphology	5879	RAC1	OMIM:617751
HP:0033353	Abnormal blood vessel morphology	5879	RAC1	ORPHA:500159
HP:0033353	Abnormal blood vessel morphology	9757	KMT2B	OMIM:619934
HP:0033353	Abnormal blood vessel morphology	84148	KAT8	OMIM:618974
HP:0033353	Abnormal blood vessel morphology	284086	NEK8	OMIM:615415
HP:0033353	Abnormal blood vessel morphology	3708	ITPR1	OMIM:206700
HP:0033353	Abnormal blood vessel morphology	650	BMP2	OMIM:617877
HP:0033353	Abnormal blood vessel morphology	490	ATP2B1	OMIM:619910
HP:0033353	Abnormal blood vessel morphology	23389	MED13L	OMIM:616789
HP:0033353	Abnormal blood vessel morphology	2218	FKTN	OMIM:253800
HP:0033353	Abnormal blood vessel morphology	51715	RAB23	OMIM:201000
HP:0033353	Abnormal blood vessel morphology	54870	QRICH1	OMIM:617982
HP:0033353	Abnormal blood vessel morphology	1954	MEGF8	OMIM:614976
HP:0033353	Abnormal blood vessel morphology	26227	PHGDH	OMIM:256520
HP:0033353	Abnormal blood vessel morphology	336	APOA2	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	2053	EPHX2	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	10842	PPP1R17	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	2690	GHR	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	2099	ESR1	ORPHA:785
HP:0033353	Abnormal blood vessel morphology	57592	ZNF687	OMIM:616833
HP:0033353	Abnormal blood vessel morphology	9759	HDAC4	ORPHA:1001
HP:0033353	Abnormal blood vessel morphology	64359	NXN	ORPHA:1507
HP:0033353	Abnormal blood vessel morphology	4920	ROR2	ORPHA:1507
HP:0033353	Abnormal blood vessel morphology	23592	LEMD3	ORPHA:1306
HP:0033353	Abnormal blood vessel morphology	22827	PUF60	ORPHA:508498
HP:0033353	Abnormal blood vessel morphology	22827	PUF60	ORPHA:508488
HP:0033353	Abnormal blood vessel morphology	1024	CDK8	OMIM:618748
HP:0033353	Abnormal blood vessel morphology	100151683	RNU4ATAC	OMIM:210710
HP:0033353	Abnormal blood vessel morphology	132	ADK	OMIM:614300
HP:0033353	Abnormal blood vessel morphology	6888	TALDO1	ORPHA:101028
HP:0033353	Abnormal blood vessel morphology	6888	TALDO1	OMIM:606003
HP:0033353	Abnormal blood vessel morphology	7707	ZNF148	OMIM:617260
HP:0033353	Abnormal blood vessel morphology	89910	UBE3B	OMIM:244450
HP:0033353	Abnormal blood vessel morphology	8085	KMT2D	ORPHA:2322
HP:0033353	Abnormal blood vessel morphology	8085	KMT2D	OMIM:147920
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	ORPHA:2322
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	OMIM:300867
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	OMIM:147920
HP:0033353	Abnormal blood vessel morphology	1956	EGFR	OMIM:616069
HP:0033353	Abnormal blood vessel morphology	146862	UNC45B	OMIM:619178
HP:0033353	Abnormal blood vessel morphology	1108	CHD4	OMIM:617159
HP:0033353	Abnormal blood vessel morphology	7026	NR2F2	OMIM:615779
HP:0033353	Abnormal blood vessel morphology	51057	WDPCP	OMIM:217085
HP:0033353	Abnormal blood vessel morphology	1000	CDH2	OMIM:618929
HP:0033353	Abnormal blood vessel morphology	1717	DHCR7	OMIM:270400
HP:0033353	Abnormal blood vessel morphology	9184	BUB3	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	699	BUB1	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	9702	CEP57	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	9702	CEP57	OMIM:614114
HP:0033353	Abnormal blood vessel morphology	9319	TRIP13	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	701	BUB1B	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	4212	MEIS2	OMIM:600987
HP:0033353	Abnormal blood vessel morphology	25	ABL1	OMIM:617602
HP:0033353	Abnormal blood vessel morphology	139285	AMER1	ORPHA:2780
HP:0033353	Abnormal blood vessel morphology	55644	OSGEP	OMIM:617729
HP:0033353	Abnormal blood vessel morphology	5826	ABCD4	OMIM:614857
HP:0033353	Abnormal blood vessel morphology	8883	NAE1	OMIM:620210
HP:0033353	Abnormal blood vessel morphology	2313	FLI1	ORPHA:2308
HP:0033353	Abnormal blood vessel morphology	10664	CTCF	ORPHA:363611
HP:0033353	Abnormal blood vessel morphology	10664	CTCF	OMIM:615502
HP:0033353	Abnormal blood vessel morphology	65250	CPLANE1	OMIM:277170
HP:0033353	Abnormal blood vessel morphology	3265	HRAS	OMIM:163200
HP:0033353	Abnormal blood vessel morphology	83475	DOHH	OMIM:620066
HP:0033353	Abnormal blood vessel morphology	11198	SUPT16H	OMIM:619480
HP:0033353	Abnormal blood vessel morphology	28514	DLL1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2253	FGF8	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6496	SIX3	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	7050	TGIF1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6469	SHH	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	7546	ZIC2	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6491	STIL	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2619	GAS1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	84976	DISP1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2736	GLI2	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	8928	FOXH1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	5727	PTCH1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	50937	CDON	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	57057	TBX20	OMIM:611363
HP:0033353	Abnormal blood vessel morphology	51322	WAC	ORPHA:284169
HP:0033353	Abnormal blood vessel morphology	23483	TGDS	OMIM:616145
HP:0033353	Abnormal blood vessel morphology	5236	PGM1	OMIM:614921
HP:0033353	Abnormal blood vessel morphology	9939	RBM8A	OMIM:274000
HP:0033353	Abnormal blood vessel morphology	6595	SMARCA2	OMIM:601358
HP:0033353	Abnormal blood vessel morphology	51626	DYNC2LI1	OMIM:617088
HP:0033353	Abnormal blood vessel morphology	8295	TRRAP	OMIM:618454
HP:0033353	Abnormal blood vessel morphology	54903	MKS1	OMIM:249000
HP:0033353	Abnormal blood vessel morphology	6736	SRY	ORPHA:1772
HP:0033353	Abnormal blood vessel morphology	5604	MAP2K1	OMIM:163950
HP:0033353	Abnormal blood vessel morphology	673	BRAF	OMIM:163950
HP:0033353	Abnormal blood vessel morphology	79813	EHMT1	OMIM:610253
HP:0033353	Abnormal blood vessel morphology	79813	EHMT1	ORPHA:96147
HP:0033353	Abnormal blood vessel morphology	3081	HGD	ORPHA:56
HP:0033353	Abnormal blood vessel morphology	3081	HGD	OMIM:203500
HP:0033353	Abnormal blood vessel morphology	9897	WASHC5	OMIM:220210
HP:0033353	Abnormal blood vessel morphology	10735	STAG2	OMIM:301043
HP:0033353	Abnormal blood vessel morphology	6909	TBX2	OMIM:618223
HP:0033353	Abnormal blood vessel morphology	23007	PLCH1	OMIM:619895
HP:0033353	Abnormal blood vessel morphology	84231	TRAF7	OMIM:618164
HP:0033353	Abnormal blood vessel morphology	5824	PEX19	OMIM:614886
HP:0033353	Abnormal blood vessel morphology	526	ATP6V1B2	ORPHA:79500
HP:0033353	Abnormal blood vessel morphology	57465	TBC1D24	ORPHA:79500
HP:0033353	Abnormal blood vessel morphology	9451	EIF2AK3	ORPHA:1667
HP:0033353	Abnormal blood vessel morphology	55593	OTUD5	OMIM:301056
HP:0033353	Abnormal blood vessel morphology	4313	MMP2	ORPHA:371428
HP:0033353	Abnormal blood vessel morphology	4323	MMP14	ORPHA:371428
HP:0033353	Abnormal blood vessel morphology	54880	BCOR	OMIM:300166
HP:0033353	Abnormal blood vessel morphology	285590	SH3PXD2B	OMIM:249420
HP:0033353	Abnormal blood vessel morphology	9772	TMEM94	OMIM:618316
HP:0033353	Abnormal blood vessel morphology	55997	CFC1	OMIM:605376
HP:0033353	Abnormal blood vessel morphology	5053	PAH	ORPHA:2209
HP:0033353	Abnormal blood vessel morphology	9896	FIG4	ORPHA:3472
HP:0033353	Abnormal blood vessel morphology	55697	VAC14	ORPHA:3472
HP:0033353	Abnormal blood vessel morphology	55654	TMEM127	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	5979	RET	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	6390	SDHB	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	4149	MAX	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	7428	VHL	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	50628	GEMIN4	OMIM:617913
HP:0033353	Abnormal blood vessel morphology	182	JAG1	OMIM:118450
HP:0033353	Abnormal blood vessel morphology	5456	POU3F4	ORPHA:1435
HP:0033353	Abnormal blood vessel morphology	94	ACVRL1	OMIM:600376
HP:0033353	Abnormal blood vessel morphology	2022	ENG	OMIM:187300
HP:0033353	Abnormal blood vessel morphology	5921	RASA1	ORPHA:90307
HP:0033353	Abnormal blood vessel morphology	3569	IL6	OMIM:108010
HP:0033353	Abnormal blood vessel morphology	6575	SLC20A2	OMIM:213600
HP:0033353	Abnormal blood vessel morphology	5155	PDGFB	OMIM:213600
HP:0033353	Abnormal blood vessel morphology	1788	DNMT3A	ORPHA:404443
HP:0033353	Abnormal blood vessel morphology	1278	COL1A2	ORPHA:230851
HP:0033353	Abnormal blood vessel morphology	84665	MYPN	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	7169	TPM2	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	7170	TPM3	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	9469	CHST3	OMIM:245600
HP:0033353	Abnormal blood vessel morphology	26229	B3GAT3	OMIM:245600
HP:0033353	Abnormal blood vessel morphology	4883	NPR3	OMIM:619543
HP:0033353	Abnormal blood vessel morphology	79576	NKAP	OMIM:301039
HP:0033353	Abnormal blood vessel morphology	833	CARS1	OMIM:618891
HP:0033353	Abnormal blood vessel morphology	23384	SPECC1L	OMIM:145420
HP:0033353	Abnormal blood vessel morphology	29927	SEC61A1	OMIM:617056
HP:0033353	Abnormal blood vessel morphology	57167	SALL4	OMIM:607323
HP:0033353	Abnormal blood vessel morphology	197131	UBR1	OMIM:243800
HP:0033353	Abnormal blood vessel morphology	11231	SEC63	ORPHA:2924
HP:0033353	Abnormal blood vessel morphology	6774	STAT3	ORPHA:2314
HP:0033353	Abnormal blood vessel morphology	57728	WDR19	OMIM:616307
HP:0033353	Abnormal blood vessel morphology	286204	CRB2	OMIM:219730
HP:0033353	Abnormal blood vessel morphology	5087	PBX1	OMIM:617641
HP:0033353	Abnormal blood vessel morphology	51025	PAM16	OMIM:613320
HP:0033353	Abnormal blood vessel morphology	6663	SOX10	OMIM:611584
HP:0033353	Abnormal blood vessel morphology	5193	PEX12	OMIM:614859
HP:0033353	Abnormal blood vessel morphology	9158	FIBP	ORPHA:500095
HP:0033353	Abnormal blood vessel morphology	9158	FIBP	OMIM:617107
HP:0033353	Abnormal blood vessel morphology	9780	PIEZO1	OMIM:616843
HP:0033353	Abnormal blood vessel morphology	2303	FOXC2	ORPHA:33001
HP:0033353	Abnormal blood vessel morphology	2303	FOXC2	OMIM:153400
HP:0033353	Abnormal blood vessel morphology	55315	SLC29A3	OMIM:602782
HP:0033353	Abnormal blood vessel morphology	55315	SLC29A3	ORPHA:168569
HP:0033353	Abnormal blood vessel morphology	3798	KIF5A	ORPHA:100991
HP:0033353	Abnormal blood vessel morphology	57165	GJC2	ORPHA:79452
HP:0033353	Abnormal blood vessel morphology	1188	CLCNKB	ORPHA:358
HP:0033353	Abnormal blood vessel morphology	6559	SLC12A3	ORPHA:358
HP:0033353	Abnormal blood vessel morphology	7840	ALMS1	OMIM:203800
HP:0033353	Abnormal blood vessel morphology	91754	NEK9	OMIM:617022
HP:0033353	Abnormal blood vessel morphology	1349	COX7B	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	3052	HCCS	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	54539	NDUFB11	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	355	FAS	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	355	FAS	OMIM:601859
HP:0033353	Abnormal blood vessel morphology	355	FAS	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	356	FASLG	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	356	FASLG	OMIM:601859
HP:0033353	Abnormal blood vessel morphology	843	CASP10	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	843	CASP10	OMIM:603909
HP:0033353	Abnormal blood vessel morphology	10125	RASGRP1	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	90268	OTULIN	OMIM:617099
HP:0033353	Abnormal blood vessel morphology	720	C4A	OMIM:614380
HP:0033353	Abnormal blood vessel morphology	720	C4A	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	7456	WIPF1	ORPHA:906
HP:0033353	Abnormal blood vessel morphology	3426	CFI	OMIM:610984
HP:0033353	Abnormal blood vessel morphology	1493	CTLA4	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	3115	HLA-DPB1	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	5657	PRTN3	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	3113	HLA-DPA1	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	4598	MVK	ORPHA:343
HP:0033353	Abnormal blood vessel morphology	7132	TNFRSF1A	ORPHA:32960
HP:0033353	Abnormal blood vessel morphology	331	XIAP	OMIM:308240
HP:0033353	Abnormal blood vessel morphology	4068	SH2D1A	OMIM:308240
HP:0033353	Abnormal blood vessel morphology	114548	NLRP3	ORPHA:575
HP:0033353	Abnormal blood vessel morphology	6335	SCN9A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	11280	SCN11A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	6336	SCN10A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	6583	SLC22A4	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	4261	CIITA	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	51744	CD244	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	4795	NFKBIL1	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	3586	IL10	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	3586	IL10	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	4615	MYD88	ORPHA:33226
HP:0033353	Abnormal blood vessel morphology	23495	TNFRSF13B	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	4790	NFKB1	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	4791	NFKB2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	115650	TNFRSF13C	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	1380	CR2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	8742	TNFSF12	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	930	CD19	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	29851	ICOS	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	931	MS4A1	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	975	CD81	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	359948	IRF2BP2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	54	ACP5	ORPHA:1855
HP:0033353	Abnormal blood vessel morphology	149233	IL23R	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	6775	STAT4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	1230	CCR1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	3592	IL12A	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	101928376	IL12A-AS1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	7099	TLR4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	3459	IFNGR1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	337867	UBAC2	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	51752	ERAP1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	8302	KLRC4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	2068	ERCC2	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	2073	ERCC5	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	2071	ERCC3	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	847	CAT	ORPHA:926
HP:0033353	Abnormal blood vessel morphology	50485	SMARCAL1	OMIM:242900
HP:0033353	Abnormal blood vessel morphology	4907	NT5E	ORPHA:289601
HP:0033353	Abnormal blood vessel morphology	368	ABCC6	OMIM:614473
HP:0033353	Abnormal blood vessel morphology	368	ABCC6	ORPHA:51608
HP:0033353	Abnormal blood vessel morphology	5167	ENPP1	ORPHA:51608
HP:0033353	Abnormal blood vessel morphology	6309	SC5D	OMIM:607330
HP:0033353	Abnormal blood vessel morphology	2720	GLB1	OMIM:230650
HP:0033353	Abnormal blood vessel morphology	3931	LCAT	OMIM:245900
HP:0033353	Abnormal blood vessel morphology	5294	PIK3CG	OMIM:619802
HP:0033353	Abnormal blood vessel morphology	1439	CSF2RB	ORPHA:264675
HP:0033353	Abnormal blood vessel morphology	1438	CSF2RA	ORPHA:264675
HP:0033353	Abnormal blood vessel morphology	3123	HLA-DRB1	ORPHA:747
HP:0033353	Abnormal blood vessel morphology	6609	SMPD1	OMIM:607616
HP:0033353	Abnormal blood vessel morphology	6609	SMPD1	OMIM:257200
HP:0033353	Abnormal blood vessel morphology	3988	LIPA	OMIM:278000
HP:0033353	Abnormal blood vessel morphology	3988	LIPA	ORPHA:75233
HP:0033353	Abnormal blood vessel morphology	10577	NPC2	OMIM:607625
HP:0033353	Abnormal blood vessel morphology	4864	NPC1	OMIM:257220
HP:0033353	Abnormal blood vessel morphology	4758	NEU1	OMIM:256550
HP:0033353	Abnormal blood vessel morphology	9968	MED12	OMIM:301068
HP:0033353	Abnormal blood vessel morphology	2006	ELN	OMIM:185500
HP:0033353	Abnormal blood vessel morphology	6134	RPL10	OMIM:300998
HP:0033353	Abnormal blood vessel morphology	6134	RPL10	ORPHA:459070
HP:0033353	Abnormal blood vessel morphology	6134	RPL10	ORPHA:435938
HP:0033353	Abnormal blood vessel morphology	81031	SLC2A10	OMIM:208050
HP:0033353	Abnormal blood vessel morphology	81031	SLC2A10	ORPHA:3342
HP:0033353	Abnormal blood vessel morphology	8260	NAA10	OMIM:300855
HP:0033353	Abnormal blood vessel morphology	8260	NAA10	ORPHA:276432
HP:0033353	Abnormal blood vessel morphology	1272	CNTN1	OMIM:612540
HP:0033353	Abnormal blood vessel morphology	10082	GPC6	OMIM:258315
HP:0033353	Abnormal blood vessel morphology	9487	PIGL	OMIM:280000
HP:0033353	Abnormal blood vessel morphology	64919	BCL11B	OMIM:617237
HP:0033353	Abnormal blood vessel morphology	57514	ARHGAP31	OMIM:100300
HP:0033353	Abnormal blood vessel morphology	2627	GATA6	ORPHA:2255
HP:0033353	Abnormal blood vessel morphology	2627	GATA6	OMIM:600001
HP:0033353	Abnormal blood vessel morphology	22800	RRAS2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	867	CBL	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	8216	LZTR1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6016	RIT1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6237	RRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	5894	RAF1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	22808	MRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	3845	KRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	200734	SPRED2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	4893	NRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6654	SOS1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6655	SOS2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	5781	PTPN11	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	5922	RASA2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	7486	WRN	ORPHA:902
HP:0033353	Abnormal blood vessel morphology	54361	WNT4	OMIM:611812
HP:0033353	Abnormal blood vessel morphology	9839	ZEB2	OMIM:235730
HP:0033353	Abnormal blood vessel morphology	415	ARSL	ORPHA:79345
HP:0033353	Abnormal blood vessel morphology	10312	TCIRG1	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	1186	CLCN7	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	29887	SNX10	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	8600	TNFSF11	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	2626	GATA4	ORPHA:251071
HP:0033353	Abnormal blood vessel morphology	5422	POLA1	OMIM:301030
HP:0033353	Abnormal blood vessel morphology	2623	GATA1	OMIM:190685
HP:0033353	Abnormal blood vessel morphology	4256	MGP	ORPHA:85202
HP:0033353	Abnormal blood vessel morphology	92002	CCNQ	ORPHA:140952
HP:0033353	Abnormal blood vessel morphology	1482	NKX2-5	OMIM:614432
HP:0033353	Abnormal blood vessel morphology	388015	RTL1	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	8788	DLK1	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	55384	MEG3	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	1593	CYP27A1	ORPHA:909
HP:0033353	Abnormal blood vessel morphology	3949	LDLR	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	255738	PCSK9	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	26119	LDLRAP1	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	338	APOB	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	64240	ABCG5	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	64241	ABCG8	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	7148	TNXB	ORPHA:230839
HP:0033353	Abnormal blood vessel morphology	4000	LMNA	ORPHA:280365
HP:0033353	Abnormal blood vessel morphology	4000	LMNA	OMIM:176670
HP:0033353	Abnormal blood vessel morphology	116519	APOA5	OMIM:145750
HP:0033353	Abnormal blood vessel morphology	1071	CETP	ORPHA:79506
HP:0033353	Abnormal blood vessel morphology	345	APOC3	ORPHA:79506
HP:0033353	Abnormal blood vessel morphology	4023	LPL	OMIM:238600
HP:0033353	Abnormal blood vessel morphology	3053	SERPIND1	OMIM:612356
HP:0033353	Abnormal blood vessel morphology	7092	TLL1	ORPHA:99106
HP:0033353	Abnormal blood vessel morphology	54538	ROBO4	OMIM:618496
HP:0033353	Abnormal blood vessel morphology	2591	GALNT3	OMIM:211900
HP:0033353	Abnormal blood vessel morphology	5337	PLD1	OMIM:212093
HP:0033353	Abnormal blood vessel morphology	78987	CRELD1	OMIM:606217
HP:0033353	Abnormal blood vessel morphology	8772	FADD	OMIM:613759
HP:0033353	Abnormal blood vessel morphology	8772	FADD	ORPHA:306550
HP:0033353	Abnormal blood vessel morphology	64220	STRA6	OMIM:601186
HP:0033353	Abnormal blood vessel morphology	6597	SMARCA4	OMIM:614609
HP:0033353	Abnormal blood vessel morphology	1857	DVL3	OMIM:616894
HP:0033353	Abnormal blood vessel morphology	118924	FRA10AC1	OMIM:620113
HP:0033353	Abnormal blood vessel morphology	351	APP	OMIM:605714
HP:0033353	Abnormal blood vessel morphology	375	ARF1	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	4131	MAP1B	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	23327	NEDD4L	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	160418	TMTC3	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	10564	ARFGEF2	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	55780	ERMARD	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	284058	KANSL1	ORPHA:363958
HP:0033353	Abnormal blood vessel morphology	284058	KANSL1	ORPHA:363965
HP:0033353	Abnormal blood vessel morphology	54453	RIN2	OMIM:613075
HP:0033353	Abnormal blood vessel morphology	54453	RIN2	ORPHA:217335
HP:0033353	Abnormal blood vessel morphology	23118	TAB2	OMIM:614980
HP:0033353	Abnormal blood vessel morphology	3458	IFNG	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7248	TSC1	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7249	TSC2	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7139	TNNT2	OMIM:612422
HP:0033353	Abnormal blood vessel morphology	4621	MYH3	ORPHA:2990
HP:0033353	Abnormal blood vessel morphology	1146	CHRNG	ORPHA:2990
HP:0033353	Abnormal blood vessel morphology	3190	HNRNPK	ORPHA:352665
HP:0033353	Abnormal blood vessel morphology	3190	HNRNPK	ORPHA:453504
HP:0033353	Abnormal blood vessel morphology	64324	NSD1	ORPHA:821
HP:0033353	Abnormal blood vessel morphology	29072	SETD2	ORPHA:821
HP:0033353	Abnormal blood vessel morphology	10297	APC2	ORPHA:821
HP:0033353	Abnormal blood vessel morphology	51611	DPH5	OMIM:620070
HP:0033353	Abnormal blood vessel morphology	2317	FLNB	OMIM:150250
HP:0033353	Abnormal blood vessel morphology	613	BCR	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	1399	CRKL	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	5594	MAPK1	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	113246	C12orf57	OMIM:218340
HP:0033353	Abnormal blood vessel morphology	2201	FBN2	ORPHA:115
HP:0033353	Abnormal blood vessel morphology	64131	XYLT1	OMIM:264800
HP:0033353	Abnormal blood vessel morphology	64132	XYLT2	OMIM:264800
HP:0033353	Abnormal blood vessel morphology	63036	CELA2A	OMIM:618620
HP:0033353	Abnormal blood vessel morphology	6711	SPTBN1	OMIM:619475
HP:0033353	Abnormal blood vessel morphology	2548	GAA	OMIM:232300
HP:0033353	Abnormal blood vessel morphology	10056	FARSB	OMIM:613658
HP:0033353	Abnormal blood vessel morphology	5589	PRKCSH	OMIM:174050
HP:0033353	Abnormal blood vessel morphology	4796	TONSL	ORPHA:93357
HP:0033353	Abnormal blood vessel morphology	2677	GGCX	ORPHA:91135
HP:0033353	Abnormal blood vessel morphology	8985	PLOD3	OMIM:612394
HP:0033353	Abnormal blood vessel morphology	5573	PRKAR1A	ORPHA:615
HP:0033353	Abnormal blood vessel morphology	5573	PRKAR1A	ORPHA:1359
HP:0033353	Abnormal blood vessel morphology	50940	PDE11A	ORPHA:1359
HP:0033353	Abnormal blood vessel morphology	3417	IDH1	ORPHA:99646
HP:0033353	Abnormal blood vessel morphology	4352	MPL	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	7066	THPO	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	3717	JAK2	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	3423	IDS	ORPHA:217085
HP:0033353	Abnormal blood vessel morphology	3423	IDS	ORPHA:217093
HP:0033353	Abnormal blood vessel morphology	189	AGXT	OMIM:259900
HP:0033353	Abnormal blood vessel morphology	2629	GBA1	OMIM:231005
HP:0033353	Abnormal blood vessel morphology	2629	GBA1	ORPHA:2072
HP:0033353	Abnormal blood vessel morphology	10568	SLC34A2	ORPHA:60025
HP:0033353	Abnormal blood vessel morphology	3977	LIFR	OMIM:601559
HP:0033353	Abnormal blood vessel morphology	57551	TAOK1	OMIM:619575
HP:0033353	Abnormal blood vessel morphology	8425	LTBP4	OMIM:613177
HP:0033353	Abnormal blood vessel morphology	84720	PIGO	OMIM:614749
HP:0033353	Abnormal blood vessel morphology	4853	NOTCH2	OMIM:610205
HP:0033353	Abnormal blood vessel morphology	23556	PIGN	ORPHA:280633
HP:0033353	Abnormal blood vessel morphology	112752	IFT43	OMIM:614099
HP:0033353	Abnormal blood vessel morphology	9652	SKIC3	ORPHA:84064
HP:0033353	Abnormal blood vessel morphology	6499	SKIC2	ORPHA:84064
HP:0033353	Abnormal blood vessel morphology	5500	PPP1CB	OMIM:617506
HP:0033353	Abnormal blood vessel morphology	2332	FMR1	ORPHA:908
HP:0033353	Abnormal blood vessel morphology	171019	ADAMTS19	OMIM:620067
HP:0033353	Abnormal blood vessel morphology	2972	BRF1	ORPHA:444072
HP:0033353	Abnormal blood vessel morphology	633	BGN	OMIM:300989
HP:0033353	Abnormal blood vessel morphology	2702	GJA5	OMIM:612474
HP:0033353	Abnormal blood vessel morphology	2703	GJA8	OMIM:612474
HP:0033353	Abnormal blood vessel morphology	79875	THSD4	OMIM:619825
HP:0033353	Abnormal blood vessel morphology	10293	TRAIP	OMIM:616777
HP:0033353	Abnormal blood vessel morphology	10157	AASS	ORPHA:2203
HP:0033353	Abnormal blood vessel morphology	4625	MYH7	OMIM:613426
HP:0033353	Abnormal blood vessel morphology	28952	CCDC22	OMIM:300963
HP:0033353	Abnormal blood vessel morphology	26191	PTPN22	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	3106	HLA-B	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	8974	P4HA2	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	286053	NSMCE2	OMIM:617253
HP:0033353	Abnormal blood vessel morphology	3756	KCNH1	OMIM:135500
HP:0033353	Abnormal blood vessel morphology	4851	NOTCH1	ORPHA:402075
HP:0033353	Abnormal blood vessel morphology	140628	GATA5	ORPHA:402075
HP:0033353	Abnormal blood vessel morphology	4091	SMAD6	ORPHA:402075
HP:0033353	Abnormal blood vessel morphology	5590	PRKCZ	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	2563	GABRD	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	23013	SPEN	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	8510	MMP23B	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	7798	LUZP1	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	6497	SKI	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	10630	PDPN	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	3339	HSPG2	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	10277	UBE4B	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	8514	KCNAB2	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	473	RERE	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	63976	PRDM16	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	54897	CASZ1	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	9723	SEMA3E	ORPHA:138
HP:0033353	Abnormal blood vessel morphology	30008	EFEMP2	OMIM:614437
HP:0033353	Abnormal blood vessel morphology	55249	YY1AP1	OMIM:602531
HP:0033353	Abnormal blood vessel morphology	9149	DYRK1B	OMIM:615812
HP:0033353	Abnormal blood vessel morphology	57104	PNPLA2	ORPHA:565612
HP:0033353	Abnormal blood vessel morphology	19	ABCA1	ORPHA:31150
HP:0033353	Abnormal blood vessel morphology	2737	GLI3	OMIM:146510
HP:0033353	Abnormal blood vessel morphology	5745	PTH1R	OMIM:215045
HP:0033353	Abnormal blood vessel morphology	123606	NIPA1	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	7283	TUBG1	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	81614	NIPA2	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	998	CDC42	ORPHA:487796
HP:0033353	Abnormal blood vessel morphology	2719	GPC3	OMIM:312870
HP:0033353	Abnormal blood vessel morphology	2239	GPC4	OMIM:312870
HP:0033353	Abnormal blood vessel morphology	3990	LIPC	ORPHA:140905
HP:0033353	Abnormal blood vessel morphology	335	APOA1	OMIM:618463
HP:0033353	Abnormal blood vessel morphology	335	APOA1	ORPHA:425
HP:0033353	Abnormal blood vessel morphology	2074	ERCC6	ORPHA:90324
HP:0033353	Abnormal blood vessel morphology	84984	CEP19	OMIM:615703
HP:0033353	Abnormal blood vessel morphology	338328	GPIHBP1	OMIM:615947
HP:0033353	Abnormal blood vessel morphology	4205	MEF2A	OMIM:608320
HP:0033353	Abnormal blood vessel morphology	4040	LRP6	OMIM:610947
HP:0033353	Abnormal blood vessel morphology	3198	HOXA1	OMIM:601536
HP:0033353	Abnormal blood vessel morphology	5627	PROS1	ORPHA:743
HP:0033353	Abnormal blood vessel morphology	5624	PROC	ORPHA:745
HP:0033353	Abnormal blood vessel morphology	64093	SMOC1	ORPHA:1106
HP:0033353	Abnormal blood vessel morphology	1277	COL1A1	ORPHA:287
HP:0033353	Abnormal blood vessel morphology	1290	COL5A2	ORPHA:287
HP:0033353	Abnormal blood vessel morphology	5351	PLOD1	ORPHA:1900
HP:0033353	Abnormal blood vessel morphology	128	ADH5	OMIM:619151
HP:0033353	Abnormal blood vessel morphology	2294	FOXF1	OMIM:265380
HP:0033353	Abnormal blood vessel morphology	7490	WT1	OMIM:608978
HP:0033353	Abnormal blood vessel morphology	137814	NKX2-6	ORPHA:3384
HP:0033353	Abnormal blood vessel morphology	23129	PLXND1	ORPHA:3384
HP:0033353	Abnormal blood vessel morphology	1387	CREBBP	OMIM:180849
HP:0033353	Abnormal blood vessel morphology	2033	EP300	OMIM:180849
HP:0033353	Abnormal blood vessel morphology	54916	TMEM260	OMIM:617478
HP:0033353	Abnormal blood vessel morphology	25981	DNAH1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	115948	ODAD3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54768	HYDIN	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	352909	DNAAF3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	27148	STK36	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	51314	NME8	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	92749	DRC1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54970	TTC12	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	152110	NEK10	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	8481	OFD1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	2302	FOXJ1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	221421	RSPH9	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	85478	CCDC65	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	55036	CCDC40	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	51364	ZMYND10	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	64446	DNAI2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	6674	SPAG1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83544	DNAL1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	89765	RSPH1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83538	ODAD4	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	200373	CFAP221	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	374407	DNAJB13	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	55172	DNAAF2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	161582	DNAAF4	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	2622	GAS8	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	23639	DNAAF11	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	27019	DNAI1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	345895	RSPH4A	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54919	DNAAF5	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	6103	RPGR	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	388389	CCDC103	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	93233	ODAD1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	93233	ODAD1	OMIM:615067
HP:0033353	Abnormal blood vessel morphology	55130	ODAD2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	1767	DNAH5	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83861	RSPH3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	345643	MCIDAS	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	56683	CFAP298	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	79925	SPEF2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	10309	CCNO	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	115399	LRRC56	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	139212	DNAAF6	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	123872	DNAAF1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	85016	CFAP300	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	339829	CCDC39	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	8701	DNAH11	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	1770	DNAH9	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	246176	GAS2L2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	10743	RAI1	ORPHA:477817
HP:0033353	Abnormal blood vessel morphology	10847	SRCAP	OMIM:136140
HP:0033353	Abnormal blood vessel morphology	10847	SRCAP	ORPHA:2044
HP:0033353	Abnormal blood vessel morphology	2187	FANCB	OMIM:314390
HP:0033353	Abnormal blood vessel morphology	7547	ZIC3	OMIM:314390
HP:0033353	Abnormal blood vessel morphology	55181	SMG8	OMIM:619268
HP:0033353	Abnormal blood vessel morphology	374879	ZNF699	OMIM:619488
HP:0033353	Abnormal blood vessel morphology	7386	UQCRFS1	OMIM:618775
HP:0033353	Abnormal blood vessel morphology	1822	ATN1	OMIM:618494
HP:0033353	Abnormal blood vessel morphology	4281	MID1	ORPHA:2745
HP:0033353	Abnormal blood vessel morphology	2783	GNB2	OMIM:619503
HP:0033353	Abnormal blood vessel morphology	1161	ERCC8	OMIM:216400
HP:0033353	Abnormal blood vessel morphology	8241	RBM10	ORPHA:2886
HP:0033353	Abnormal blood vessel morphology	7703	PCGF2	OMIM:618371
HP:0033353	Abnormal blood vessel morphology	1289	COL5A1	OMIM:619329
HP:0033353	Abnormal blood vessel morphology	538	ATP7A	OMIM:304150
HP:0033353	Abnormal blood vessel morphology	10526	IPO8	OMIM:619472
HP:0033353	Abnormal blood vessel morphology	64135	IFIH1	OMIM:182250
HP:0033353	Abnormal blood vessel morphology	10491	CRTAP	OMIM:610682
HP:0033353	Abnormal blood vessel morphology	340419	RSPO2	OMIM:618021
HP:0033353	Abnormal blood vessel morphology	7454	WAS	OMIM:301000
HP:0033353	Abnormal blood vessel morphology	64127	NOD2	ORPHA:90340
HP:0033353	Abnormal blood vessel morphology	659	BMPR2	OMIM:178600
HP:0033353	Abnormal blood vessel morphology	4860	PNP	OMIM:613179
HP:0033353	Abnormal blood vessel morphology	81704	DOCK8	OMIM:243700
HP:0033353	Abnormal blood vessel morphology	10621	POLR3F	OMIM:619872
HP:0033353	Abnormal blood vessel morphology	672	BRCA1	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	10459	MAD2L2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	7516	XRCC2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	29089	UBE2T	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	675	BRCA2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55120	FANCL	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2177	FANCD2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2175	FANCA	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2176	FANCC	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2178	FANCE	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2188	FANCF	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2189	FANCG	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	5888	RAD51	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	5889	RAD51C	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55159	RFWD3	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	83990	BRIP1	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	57697	FANCM	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	79728	PALB2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	84464	SLX4	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2072	ERCC4	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55215	FANCI	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	7319	UBE2A	ORPHA:163956
HP:0033353	Abnormal blood vessel morphology	10283	CWC27	ORPHA:166035
HP:0033353	Abnormal blood vessel morphology	440275	EIF2AK4	OMIM:234810
HP:0033353	Abnormal blood vessel morphology	5318	PKP2	OMIM:609040
HP:0033353	Abnormal blood vessel morphology	10516	FBLN5	ORPHA:90348
HP:0033353	Abnormal blood vessel morphology	10516	FBLN5	ORPHA:90349
HP:0033353	Abnormal blood vessel morphology	5832	ALDH18A1	ORPHA:90348
HP:0033353	Abnormal blood vessel morphology	4052	LTBP1	ORPHA:90349
HP:0033353	Abnormal blood vessel morphology	54820	NDE1	ORPHA:2177
HP:0033353	Abnormal blood vessel morphology	4878	NPPA	OMIM:615745
HP:0033353	Abnormal blood vessel morphology	29925	GMPPB	ORPHA:363623
HP:0033353	Abnormal blood vessel morphology	54914	FOCAD	OMIM:619991
HP:0033353	Abnormal blood vessel morphology	4010	LMX1B	ORPHA:2614
HP:0033353	Abnormal blood vessel morphology	5310	PKD1	OMIM:173900
HP:0033353	Abnormal blood vessel morphology	7049	TGFBR3	ORPHA:231160
HP:0033353	Abnormal blood vessel morphology	83854	ANGPTL6	ORPHA:231160
HP:0033353	Abnormal blood vessel morphology	23545	ATP6V0A2	ORPHA:2834
HP:0033353	Abnormal blood vessel morphology	23545	ATP6V0A2	ORPHA:357074
HP:0033353	Abnormal blood vessel morphology	523	ATP6V1A	ORPHA:357074
HP:0033353	Abnormal blood vessel morphology	85465	SELENOI	ORPHA:506353
HP:0033353	Abnormal blood vessel morphology	4514	MT-CO3	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4519	MT-CYB	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4541	MT-ND6	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4540	MT-ND5	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4539	MT-ND4L	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4535	MT-ND1	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4536	MT-ND2	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4538	MT-ND4	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4750	NEK1	ORPHA:2751
HP:0033353	Abnormal blood vessel morphology	2161	F12	ORPHA:330
HP:0033353	Abnormal blood vessel morphology	7439	BEST1	OMIM:193220
HP:0033353	Abnormal blood vessel morphology	7287	TULP1	OMIM:600132
HP:0033353	Abnormal blood vessel morphology	9129	PRPF3	OMIM:601414
HP:0033353	Abnormal blood vessel morphology	79796	ALG9	ORPHA:79328
HP:0033353	Abnormal blood vessel morphology	427	ASAH1	ORPHA:333
HP:0033353	Abnormal blood vessel morphology	427	ASAH1	OMIM:228000
HP:0033353	Abnormal blood vessel morphology	5476	CTSA	ORPHA:351
HP:0033353	Abnormal blood vessel morphology	5476	CTSA	OMIM:256540
HP:0033353	Abnormal blood vessel morphology	3074	HEXB	ORPHA:309155
HP:0033353	Abnormal blood vessel morphology	3074	HEXB	OMIM:268800
HP:0033353	Abnormal blood vessel morphology	2581	GALC	ORPHA:206436
HP:0033353	Abnormal blood vessel morphology	5660	PSAP	ORPHA:206436
HP:0033353	Abnormal blood vessel morphology	79583	TMEM231	ORPHA:2752
HP:0033353	Abnormal blood vessel morphology	3073	HEXA	OMIM:272800
HP:0033353	Abnormal blood vessel morphology	1615	DARS1	OMIM:615281
HP:0033353	Abnormal blood vessel morphology	2760	GM2A	ORPHA:309246
HP:0033353	Abnormal blood vessel morphology	10730	YME1L1	OMIM:617302
HP:0033353	Abnormal blood vessel morphology	1718	DHCR24	ORPHA:35107
HP:0033353	Abnormal blood vessel morphology	6910	TBX5	ORPHA:392
HP:0033353	Abnormal blood vessel morphology	10370	CITED2	OMIM:614433
HP:0033353	Abnormal blood vessel morphology	10370	CITED2	ORPHA:99105
HP:0033353	Abnormal blood vessel morphology	27125	AFF4	OMIM:616368
HP:0033353	Abnormal blood vessel morphology	134701	RIPPLY2	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	10683	DLL3	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	3955	LFNG	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	145873	MESP2	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	745	MYRF	OMIM:618280
HP:0033353	Abnormal blood vessel morphology	8243	SMC1A	OMIM:301044
HP:0033353	Abnormal blood vessel morphology	4838	NODAL	OMIM:270100
HP:0033353	Abnormal blood vessel morphology	5296	PIK3R2	OMIM:603387
HP:0033353	Abnormal blood vessel morphology	51726	DNAJB11	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	23193	GANAB	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	5311	PKD2	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	29880	ALG5	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	9742	IFT140	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	80114	BICC1	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	129563	DIS3L2	OMIM:267000
HP:0033353	Abnormal blood vessel morphology	4613	MYCN	ORPHA:391641
HP:0033353	Abnormal blood vessel morphology	4613	MYCN	OMIM:164280
HP:0033353	Abnormal blood vessel morphology	8802	SUCLG1	ORPHA:17
HP:0033353	Abnormal blood vessel morphology	56006	SMG9	OMIM:616920
HP:0033353	Abnormal blood vessel morphology	2260	FGFR1	ORPHA:2396
HP:0033353	Abnormal blood vessel morphology	9993	DGCR2	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	8220	ESS2	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	8214	DGCR6	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	54487	DGCR8	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	55191	NADSYN1	OMIM:618845
HP:0033353	Abnormal blood vessel morphology	8496	PPFIBP1	OMIM:620024
HP:0033353	Abnormal blood vessel morphology	2316	FLNA	OMIM:304120
HP:0033353	Abnormal blood vessel morphology	5718	PSMD12	ORPHA:529962
HP:0033353	Abnormal blood vessel morphology	2186	BPTF	ORPHA:529962
HP:0033353	Abnormal blood vessel morphology	6651	SON	ORPHA:500150
HP:0033353	Abnormal blood vessel morphology	808	CALM3	OMIM:618782
HP:0033353	Abnormal blood vessel morphology	54892	NCAPG2	OMIM:618460
HP:0033353	Abnormal blood vessel morphology	55784	MCTP2	ORPHA:1596
HP:0033353	Abnormal blood vessel morphology	81857	MED25	ORPHA:464738
HP:0033353	Abnormal blood vessel morphology	5567	PRKACB	OMIM:619143
HP:0033353	Abnormal blood vessel morphology	51780	KDM3B	OMIM:618846
HP:0033353	Abnormal blood vessel morphology	57674	RNF213	OMIM:607151
HP:0033353	Abnormal blood vessel morphology	4774	NFIA	ORPHA:401986
HP:0033353	Abnormal blood vessel morphology	79184	BRCC3	ORPHA:280679
HP:0033353	Abnormal blood vessel morphology	10535	RNASEH2A	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	84153	RNASEH2C	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	25939	SAMHD1	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	79621	RNASEH2B	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	103	ADAR	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	100147744	RNU7-1	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	134353	LSM11	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	2982	GUCY1A1	ORPHA:401945
HP:0033353	Abnormal blood vessel morphology	2982	GUCY1A1	OMIM:615750
HP:0033353	Abnormal blood vessel morphology	4210	MEFV	ORPHA:3243
HP:0033353	Abnormal blood vessel morphology	4210	MEFV	OMIM:608068
HP:0033353	Abnormal blood vessel morphology	1776	DNASE1L3	ORPHA:36412
HP:0033353	Abnormal blood vessel morphology	80232	WDR26	ORPHA:513456
HP:0033353	Abnormal blood vessel morphology	80232	WDR26	OMIM:617616
HP:0033353	Abnormal blood vessel morphology	79989	IFT56	OMIM:619534
HP:0033353	Abnormal blood vessel morphology	93	ACVR2B	OMIM:613751
HP:0033353	Abnormal blood vessel morphology	220136	CFAP53	OMIM:614779
HP:0033353	Abnormal blood vessel morphology	55636	CHD7	OMIM:214800
HP:0033353	Abnormal blood vessel morphology	100128908	CIROP	OMIM:619702
HP:0033353	Abnormal blood vessel morphology	10992	SF3B2	OMIM:164210
HP:0033353	Abnormal blood vessel morphology	118856	MMP21	OMIM:616749
HP:0033353	Abnormal blood vessel morphology	10525	HYOU1	OMIM:233600
HP:0033353	Abnormal blood vessel morphology	7317	UBA1	OMIM:301054
HP:0033353	Abnormal blood vessel morphology	4087	SMAD2	OMIM:619656
HP:0033353	Abnormal blood vessel morphology	55901	THSD1	OMIM:618734
HP:0033353	Abnormal blood vessel morphology	51473	DCDC2	ORPHA:84081
HP:0033353	Abnormal blood vessel morphology	91147	TMEM67	ORPHA:84081
HP:0033353	Abnormal blood vessel morphology	6772	STAT1	ORPHA:391487
HP:0033353	Abnormal blood vessel morphology	10043	TOM1	ORPHA:391487
HP:0033353	Abnormal blood vessel morphology	4015	LOX	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	7043	TGFB3	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4088	SMAD3	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	7042	TGFB2	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4089	SMAD4	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	2200	FBN1	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	59	ACTA2	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	2301	FOXE3	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4144	MAT2A	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	23493	HEY2	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	8076	MFAP5	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4638	MYLK	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4629	MYH11	OMIM:132900
HP:0033353	Abnormal blood vessel morphology	6885	MAP3K7	OMIM:157800
HP:0033353	Abnormal blood vessel morphology	2697	GJA1	ORPHA:2248
HP:0033353	Abnormal blood vessel morphology	5518	PPP2R1A	ORPHA:457284
HP:0033353	Abnormal blood vessel morphology	10195	ALG3	ORPHA:79321
HP:0033353	Abnormal blood vessel morphology	348	APOE	ORPHA:412
HP:0033353	Abnormal blood vessel morphology	1581	CYP7A1	ORPHA:209902
HP:0033353	Abnormal blood vessel morphology	4763	NF1	ORPHA:97685
HP:0033353	Abnormal blood vessel morphology	1281	COL3A1	OMIM:130050
HP:0033353	Abnormal blood vessel morphology	11117	EMILIN1	OMIM:620080
HP:0033353	Abnormal blood vessel morphology	5290	PIK3CA	OMIM:613089
HP:0033353	Abnormal blood vessel morphology	5290	PIK3CA	OMIM:612918
HP:0033353	Abnormal blood vessel morphology	207	AKT1	OMIM:176920
HP:0033353	Abnormal blood vessel morphology	11235	PDCD10	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	83605	CCM2	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	889	KRIT1	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	11146	GLMN	ORPHA:83454
HP:0033353	Abnormal blood vessel morphology	4488	MSX2	ORPHA:60015
HP:0033353	Abnormal blood vessel morphology	60529	ALX4	ORPHA:60015
HP:0033353	Abnormal blood vessel morphology	7010	TEK	OMIM:600195
HP:0033353	Abnormal blood vessel morphology	126792	B3GALT6	ORPHA:536467
HP:0033353	Abnormal blood vessel morphology	92949	ADAMTSL1	ORPHA:521445
HP:0033353	Abnormal blood vessel morphology	6135	RPL11	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6138	RPL15	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6229	RPS24	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6125	RPL5	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6204	RPS10	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6224	RPS20	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6165	RPL35A	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6223	RPS19	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6232	RPS27	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6231	RPS26	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	11224	RPL35	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6160	RPL31	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6218	RPS17	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6201	RPS7	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6155	RPL27	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6154	RPL26	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6210	RPS15A	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	90121	TSR2	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6141	RPL18	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6235	RPS29	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6234	RPS28	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	2202	EFEMP1	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	1545	CYP1B1	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	4653	MYOC	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	3490	IGFBP7	OMIM:614224
HP:0033353	Abnormal blood vessel morphology	51434	ANAPC7	OMIM:619699
HP:0033353	Abnormal blood vessel morphology	2859	GPR35	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	10507	SEMA4D	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	4485	MST1	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	6925	TCF4	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	84667	HES7	OMIM:613686
HP:0033353	Abnormal blood vessel morphology	7046	TGFBR1	OMIM:609192
HP:0033353	Abnormal blood vessel morphology	7048	TGFBR2	OMIM:610168
HP:0033353	Abnormal blood vessel morphology	5592	PRKG1	OMIM:615436
HP:0033353	Abnormal blood vessel morphology	9894	TELO2	ORPHA:488642
HP:0033353	Abnormal blood vessel morphology	145173	B3GLCT	ORPHA:709
HP:0033353	Abnormal blood vessel morphology	1656	DDX6	OMIM:618653
HP:0033353	Abnormal blood vessel morphology	5293	PIK3CD	ORPHA:221139
HP:0033353	Abnormal blood vessel morphology	90417	KNSTRN	ORPHA:221139
HP:0033353	Abnormal blood vessel morphology	5580	PRKCD	OMIM:615559
HP:0033353	Abnormal blood vessel morphology	8314	BAP1	ORPHA:50251
HP:0033353	Abnormal blood vessel morphology	58499	ZNF462	OMIM:618619
HP:0033353	Abnormal blood vessel morphology	2131	EXT1	ORPHA:321
HP:0033353	Abnormal blood vessel morphology	2132	EXT2	ORPHA:321
HP:0033353	Abnormal blood vessel morphology	55033	FKBP14	OMIM:614557
HP:0033353	Abnormal blood vessel morphology	7528	YY1	OMIM:617557
HP:0033353	Abnormal blood vessel morphology	168507	PKD1L1	OMIM:617205
HP:0033353	Abnormal blood vessel morphology	8854	ALDH1A2	OMIM:620025
HP:0033353	Abnormal blood vessel morphology	2324	FLT4	OMIM:618780
HP:0033353	Abnormal blood vessel morphology	2657	GDF1	OMIM:208530
HP:0033353	Abnormal blood vessel morphology	6439	SFTPB	OMIM:265120
HP:0033353	Abnormal blood vessel morphology	10128	LRPPRC	OMIM:220111
HP:0033353	Abnormal blood vessel morphology	875	CBS	ORPHA:394
HP:0033353	Abnormal blood vessel morphology	9508	ADAMTS3	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	147372	CCBE1	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	79633	FAT4	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	5728	PTEN	ORPHA:109
HP:0033353	Abnormal blood vessel morphology	5728	PTEN	ORPHA:744
HP:0033353	Abnormal blood vessel morphology	5728	PTEN	ORPHA:137608
HP:0033353	Abnormal blood vessel morphology	2776	GNAQ	ORPHA:624
HP:0033353	Abnormal blood vessel morphology	2990	GUSB	ORPHA:584
HP:0033353	Abnormal blood vessel morphology	3110	MNX1	ORPHA:1552
HP:0033353	Abnormal blood vessel morphology	3516	RBPJ	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	57572	DOCK6	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	285203	EOGT	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	54567	DLL4	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	4854	NOTCH3	ORPHA:136
HP:0033353	Abnormal blood vessel morphology	5116	PCNT	ORPHA:2637
HP:0033353	Abnormal blood vessel morphology	3593	IL12B	ORPHA:3287
HP:0033353	Abnormal blood vessel morphology	6945	MLX	ORPHA:3287
HP:0033353	Abnormal blood vessel morphology	51816	ADA2	ORPHA:820
HP:0033353	Abnormal blood vessel morphology	2767	GNA11	ORPHA:1556
HP:0033353	Abnormal blood vessel morphology	151188	ARL6IP6	ORPHA:1556
HP:0033353	Abnormal blood vessel morphology	5654	HTRA1	OMIM:600142
HP:0033353	Abnormal blood vessel morphology	6392	SDHD	OMIM:168000
HP:0033353	Abnormal blood vessel morphology	2658	GDF2	ORPHA:774
HP:0033353	Abnormal blood vessel morphology	2050	EPHB4	ORPHA:137667
HP:0033353	Abnormal blood vessel morphology	2050	EPHB4	ORPHA:1053
HP:0033353	Abnormal blood vessel morphology	55109	AGGF1	ORPHA:90308
HP:0033353	Abnormal blood vessel morphology	6850	SYK	OMIM:619381
HP:0033353	Abnormal blood vessel morphology	5238	PGM3	ORPHA:443811
HP:0033353	Abnormal blood vessel morphology	5238	PGM3	OMIM:615816
HP:0033353	Abnormal blood vessel morphology	10095	ARPC1B	OMIM:617718
HP:0033353	Abnormal blood vessel morphology	3594	IL12RB1	ORPHA:319552
HP:0033353	Abnormal blood vessel morphology	11277	TREX1	OMIM:192315
HP:0033354	Abnormal urine metabolite level	25970	SH2B1	ORPHA:261222
HP:0033354	Abnormal urine metabolite level	2132	EXT2	OMIM:616682
HP:0033354	Abnormal urine metabolite level	8029	CUBN	OMIM:261100
HP:0033354	Abnormal urine metabolite level	8029	CUBN	ORPHA:35858
HP:0033354	Abnormal urine metabolite level	8029	CUBN	OMIM:618884
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	ORPHA:2613
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	ORPHA:2614
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	OMIM:161200
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	OMIM:256020
HP:0033354	Abnormal urine metabolite level	55654	TMEM127	OMIM:171300
HP:0033354	Abnormal urine metabolite level	55654	TMEM127	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	5979	RET	OMIM:171300
HP:0033354	Abnormal urine metabolite level	5979	RET	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	5979	RET	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6390	SDHB	OMIM:171300
HP:0033354	Abnormal urine metabolite level	6390	SDHB	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	6390	SDHB	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6392	SDHD	OMIM:171300
HP:0033354	Abnormal urine metabolite level	6392	SDHD	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	6392	SDHD	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4149	MAX	OMIM:171300
HP:0033354	Abnormal urine metabolite level	4149	MAX	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	7428	VHL	OMIM:171300
HP:0033354	Abnormal urine metabolite level	7428	VHL	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	7428	VHL	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	84942	WDR73	OMIM:251300
HP:0033354	Abnormal urine metabolite level	84942	WDR73	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	OMIM:232220
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	OMIM:232240
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	ORPHA:79259
HP:0033354	Abnormal urine metabolite level	1161	ERCC8	ORPHA:90321
HP:0033354	Abnormal urine metabolite level	1161	ERCC8	OMIM:216400
HP:0033354	Abnormal urine metabolite level	2074	ERCC6	ORPHA:90321
HP:0033354	Abnormal urine metabolite level	2074	ERCC6	OMIM:133540
HP:0033354	Abnormal urine metabolite level	23607	CD2AP	OMIM:607832
HP:0033354	Abnormal urine metabolite level	23607	CD2AP	ORPHA:656
HP:0033354	Abnormal urine metabolite level	396	ARHGDIA	OMIM:615244
HP:0033354	Abnormal urine metabolite level	396	ARHGDIA	ORPHA:656
HP:0033354	Abnormal urine metabolite level	3162	HMOX1	OMIM:614034
HP:0033354	Abnormal urine metabolite level	25959	KANK2	OMIM:617783
HP:0033354	Abnormal urine metabolite level	65082	VPS33A	OMIM:617303
HP:0033354	Abnormal urine metabolite level	65082	VPS33A	ORPHA:505248
HP:0033354	Abnormal urine metabolite level	6595	SMARCA2	ORPHA:2728
HP:0033354	Abnormal urine metabolite level	8526	DGKE	OMIM:615008
HP:0033354	Abnormal urine metabolite level	79693	YRDC	OMIM:619609
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	OMIM:256300
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	ORPHA:839
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	81693	AMN	ORPHA:35858
HP:0033354	Abnormal urine metabolite level	81693	AMN	OMIM:618882
HP:0033354	Abnormal urine metabolite level	7827	NPHS2	OMIM:600995
HP:0033354	Abnormal urine metabolite level	7827	NPHS2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	1777	DNASE2	OMIM:619858
HP:0033354	Abnormal urine metabolite level	2538	G6PC1	OMIM:232200
HP:0033354	Abnormal urine metabolite level	6773	STAT2	OMIM:618886
HP:0033354	Abnormal urine metabolite level	1801	DPH1	OMIM:616901
HP:0033354	Abnormal urine metabolite level	84823	LMNB2	ORPHA:79087
HP:0033354	Abnormal urine metabolite level	84823	LMNB2	OMIM:608709
HP:0033354	Abnormal urine metabolite level	1788	DNMT3A	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	2034	EPAS1	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	83480	PUS3	ORPHA:488627
HP:0033354	Abnormal urine metabolite level	7490	WT1	OMIM:136680
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:347
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:220
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	4036	LRP2	ORPHA:2143
HP:0033354	Abnormal urine metabolite level	4036	LRP2	OMIM:222448
HP:0033354	Abnormal urine metabolite level	950	SCARB2	OMIM:254900
HP:0033354	Abnormal urine metabolite level	950	SCARB2	ORPHA:77259
HP:0033354	Abnormal urine metabolite level	54	ACP5	ORPHA:1855
HP:0033354	Abnormal urine metabolite level	5373	PMM2	OMIM:212065
HP:0033354	Abnormal urine metabolite level	5373	PMM2	ORPHA:79318
HP:0033354	Abnormal urine metabolite level	4069	LYZ	OMIM:105200
HP:0033354	Abnormal urine metabolite level	2243	FGA	OMIM:105200
HP:0033354	Abnormal urine metabolite level	335	APOA1	OMIM:105200
HP:0033354	Abnormal urine metabolite level	567	B2M	OMIM:105200
HP:0033354	Abnormal urine metabolite level	116085	SLC22A12	OMIM:220150
HP:0033354	Abnormal urine metabolite level	5972	REN	OMIM:613092
HP:0033354	Abnormal urine metabolite level	8879	SGPL1	OMIM:617575
HP:0033354	Abnormal urine metabolite level	11277	TREX1	OMIM:192315
HP:0033354	Abnormal urine metabolite level	11277	TREX1	ORPHA:247691
HP:0033354	Abnormal urine metabolite level	5076	PAX2	OMIM:616002
HP:0033354	Abnormal urine metabolite level	5076	PAX2	ORPHA:97362
HP:0033354	Abnormal urine metabolite level	5076	PAX2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	5076	PAX2	OMIM:120330
HP:0033354	Abnormal urine metabolite level	1743	DLST	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4191	MDH2	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6389	SDHA	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	23095	KIF1B	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	8402	SLC25A11	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	54949	SDHAF2	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4763	NF1	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6391	SDHC	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	2321	FLT1	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	219736	STOX1	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	10699	CORIN	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	6804	STX1A	ORPHA:904
HP:0033354	Abnormal urine metabolite level	7461	CLIP2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	84277	DNAJC30	ORPHA:904
HP:0033354	Abnormal urine metabolite level	8468	FKBP6	ORPHA:904
HP:0033354	Abnormal urine metabolite level	5982	RFC2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	2969	GTF2I	ORPHA:904
HP:0033354	Abnormal urine metabolite level	3984	LIMK1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	9569	GTF2IRD1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	155382	VPS37D	ORPHA:904
HP:0033354	Abnormal urine metabolite level	155368	METTL27	ORPHA:904
HP:0033354	Abnormal urine metabolite level	114049	BUD23	ORPHA:904
HP:0033354	Abnormal urine metabolite level	7458	EIF4H	ORPHA:904
HP:0033354	Abnormal urine metabolite level	84163	GTF2IRD2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	9275	BCL7B	ORPHA:904
HP:0033354	Abnormal urine metabolite level	26608	TBL2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	653361	NCF1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	135886	TMEM270	ORPHA:904
HP:0033354	Abnormal urine metabolite level	51085	MLXIPL	ORPHA:904
HP:0033354	Abnormal urine metabolite level	9031	BAZ1B	ORPHA:904
HP:0033354	Abnormal urine metabolite level	2006	ELN	ORPHA:904
HP:0033354	Abnormal urine metabolite level	1493	CTLA4	ORPHA:900
HP:0033354	Abnormal urine metabolite level	26191	PTPN22	ORPHA:900
HP:0033354	Abnormal urine metabolite level	3115	HLA-DPB1	ORPHA:900
HP:0033354	Abnormal urine metabolite level	5657	PRTN3	ORPHA:900
HP:0033354	Abnormal urine metabolite level	3113	HLA-DPA1	ORPHA:900
HP:0033354	Abnormal urine metabolite level	3675	ITGA3	OMIM:614748
HP:0033354	Abnormal urine metabolite level	4567	MT-TL1	ORPHA:225
HP:0033354	Abnormal urine metabolite level	4567	MT-TL1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4556	MT-TE	ORPHA:225
HP:0033354	Abnormal urine metabolite level	4566	MT-TK	ORPHA:225
HP:0033354	Abnormal urine metabolite level	4210	MEFV	ORPHA:342
HP:0033354	Abnormal urine metabolite level	4210	MEFV	OMIM:134610
HP:0033354	Abnormal urine metabolite level	3931	LCAT	OMIM:245900
HP:0033354	Abnormal urine metabolite level	4094	MAF	ORPHA:1272
HP:0033354	Abnormal urine metabolite level	2934	GSN	ORPHA:85448
HP:0033354	Abnormal urine metabolite level	3913	LAMB2	OMIM:614199
HP:0033354	Abnormal urine metabolite level	3913	LAMB2	OMIM:609049
HP:0033354	Abnormal urine metabolite level	5800	PTPRO	OMIM:614196
HP:0033354	Abnormal urine metabolite level	5800	PTPRO	ORPHA:656
HP:0033354	Abnormal urine metabolite level	6288	SAA1	ORPHA:85445
HP:0033354	Abnormal urine metabolite level	50485	SMARCAL1	ORPHA:1830
HP:0033354	Abnormal urine metabolite level	50485	SMARCAL1	OMIM:242900
HP:0033354	Abnormal urine metabolite level	8481	OFD1	OMIM:311200
HP:0033354	Abnormal urine metabolite level	8481	OFD1	ORPHA:2750
HP:0033354	Abnormal urine metabolite level	10253	SPRY2	OMIM:616818
HP:0033354	Abnormal urine metabolite level	4846	NOS3	OMIM:189800
HP:0033354	Abnormal urine metabolite level	2717	GLA	OMIM:301500
HP:0033354	Abnormal urine metabolite level	2717	GLA	ORPHA:324
HP:0033354	Abnormal urine metabolite level	25836	NIPBL	OMIM:122470
HP:0033354	Abnormal urine metabolite level	2303	FOXC2	ORPHA:33001
HP:0033354	Abnormal urine metabolite level	5836	PYGL	ORPHA:369
HP:0033354	Abnormal urine metabolite level	51196	PLCE1	OMIM:610725
HP:0033354	Abnormal urine metabolite level	51196	PLCE1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	2629	GBA1	ORPHA:77261
HP:0033354	Abnormal urine metabolite level	2629	GBA1	ORPHA:77259
HP:0033354	Abnormal urine metabolite level	54443	ANLN	OMIM:616032
HP:0033354	Abnormal urine metabolite level	54443	ANLN	ORPHA:656
HP:0033354	Abnormal urine metabolite level	51004	COQ6	OMIM:614650
HP:0033354	Abnormal urine metabolite level	7535	ZAP70	OMIM:617006
HP:0033354	Abnormal urine metabolite level	57107	PDSS2	OMIM:614652
HP:0033354	Abnormal urine metabolite level	81603	TRIM8	OMIM:619428
HP:0033354	Abnormal urine metabolite level	1188	CLCNKB	ORPHA:358
HP:0033354	Abnormal urine metabolite level	6559	SLC12A3	ORPHA:358
HP:0033354	Abnormal urine metabolite level	1288	COL4A6	ORPHA:1018
HP:0033354	Abnormal urine metabolite level	1287	COL4A5	ORPHA:1018
HP:0033354	Abnormal urine metabolite level	1287	COL4A5	OMIM:301050
HP:0033354	Abnormal urine metabolite level	4558	MT-TF	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4572	MT-TQ	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4512	MT-CO1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4513	MT-CO2	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4514	MT-CO3	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4578	MT-TW	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4540	MT-ND5	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4541	MT-ND6	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4535	MT-ND1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4538	MT-ND4	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4575	MT-TS2	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4564	MT-TH	ORPHA:550
HP:0033354	Abnormal urine metabolite level	5087	PBX1	ORPHA:97362
HP:0033354	Abnormal urine metabolite level	10785	WDR4	OMIM:618347
HP:0033354	Abnormal urine metabolite level	10785	WDR4	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	57122	NUP107	OMIM:618348
HP:0033354	Abnormal urine metabolite level	57122	NUP107	OMIM:616730
HP:0033354	Abnormal urine metabolite level	57122	NUP107	ORPHA:656
HP:0033354	Abnormal urine metabolite level	57122	NUP107	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	55746	NUP133	OMIM:618349
HP:0033354	Abnormal urine metabolite level	55746	NUP133	ORPHA:656
HP:0033354	Abnormal urine metabolite level	55746	NUP133	OMIM:618177
HP:0033354	Abnormal urine metabolite level	55746	NUP133	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	4179	CD46	OMIM:612922
HP:0033354	Abnormal urine metabolite level	4179	CD46	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	6775	STAT4	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	6696	SPP1	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	3654	IRAK1	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	629	CFB	OMIM:612924
HP:0033354	Abnormal urine metabolite level	3426	CFI	OMIM:612923
HP:0033354	Abnormal urine metabolite level	3426	CFI	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	1776	DNASE1L3	ORPHA:36412
HP:0033354	Abnormal urine metabolite level	7056	THBD	OMIM:612926
HP:0033354	Abnormal urine metabolite level	718	C3	OMIM:612925
HP:0033354	Abnormal urine metabolite level	55243	KIRREL1	OMIM:619201
HP:0033354	Abnormal urine metabolite level	6514	SLC2A2	OMIM:227810
HP:0033354	Abnormal urine metabolite level	9342	SNAP29	ORPHA:66631
HP:0033354	Abnormal urine metabolite level	11093	ADAMTS13	OMIM:274150
HP:0033354	Abnormal urine metabolite level	9688	NUP93	ORPHA:656
HP:0033354	Abnormal urine metabolite level	4643	MYO1E	ORPHA:656
HP:0033354	Abnormal urine metabolite level	4643	MYO1E	OMIM:614131
HP:0033354	Abnormal urine metabolite level	64423	INF2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	64423	INF2	OMIM:613237
HP:0033354	Abnormal urine metabolite level	64423	INF2	OMIM:614455
HP:0033354	Abnormal urine metabolite level	26130	GAPVD1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	51479	ANKFY1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	286204	CRB2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23165	NUP205	ORPHA:656
HP:0033354	Abnormal urine metabolite level	2013	EMP2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79023	NUP37	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79902	NUP85	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79902	NUP85	OMIM:618176
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	ORPHA:656
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	OMIM:203780
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	OMIM:104200
HP:0033354	Abnormal urine metabolite level	79934	COQ8B	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79934	COQ8B	OMIM:615573
HP:0033354	Abnormal urine metabolite level	23279	NUP160	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23279	NUP160	OMIM:618178
HP:0033354	Abnormal urine metabolite level	9863	MAGI2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	9863	MAGI2	OMIM:617609
HP:0033354	Abnormal urine metabolite level	81	ACTN4	ORPHA:656
HP:0033354	Abnormal urine metabolite level	81	ACTN4	OMIM:603278
HP:0033354	Abnormal urine metabolite level	7225	TRPC6	ORPHA:656
HP:0033354	Abnormal urine metabolite level	7225	TRPC6	OMIM:603965
HP:0033354	Abnormal urine metabolite level	8542	APOL1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	54885	TBC1D8B	ORPHA:656
HP:0033354	Abnormal urine metabolite level	54885	TBC1D8B	OMIM:301028
HP:0033354	Abnormal urine metabolite level	83478	ARHGAP24	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23500	DAAM2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	9663	LPIN2	ORPHA:77297
HP:0033354	Abnormal urine metabolite level	27235	COQ2	OMIM:607426
HP:0033354	Abnormal urine metabolite level	6928	HNF1B	OMIM:137920
HP:0033354	Abnormal urine metabolite level	5277	PIGA	ORPHA:447
HP:0033354	Abnormal urine metabolite level	55644	OSGEP	OMIM:617729
HP:0033354	Abnormal urine metabolite level	55644	OSGEP	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	27031	NPHP3	OMIM:604387
HP:0033354	Abnormal urine metabolite level	26160	IFT172	OMIM:619471
HP:0033354	Abnormal urine metabolite level	112858	TP53RK	OMIM:617730
HP:0033354	Abnormal urine metabolite level	112858	TP53RK	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	8270	LAGE3	OMIM:301006
HP:0033354	Abnormal urine metabolite level	8270	LAGE3	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	1286	COL4A4	OMIM:203780
HP:0033354	Abnormal urine metabolite level	51002	TPRKB	OMIM:617731
HP:0033354	Abnormal urine metabolite level	51002	TPRKB	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	2335	FN1	ORPHA:84090
HP:0033354	Abnormal urine metabolite level	2335	FN1	OMIM:601894
HP:0033354	Abnormal urine metabolite level	9935	MAFB	ORPHA:2774
HP:0033354	Abnormal urine metabolite level	9935	MAFB	OMIM:166300
HP:0033354	Abnormal urine metabolite level	23630	KCNE5	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	2182	ACSL4	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	9949	AMMECR1	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	100147744	RNU7-1	OMIM:619487
HP:0033354	Abnormal urine metabolite level	10651	MTX2	OMIM:619127
HP:0033354	Abnormal urine metabolite level	3075	CFH	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	101101692	HELLPAR	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	2625	GATA3	OMIM:146255
HP:0033354	Abnormal urine metabolite level	353	APRT	ORPHA:976
HP:0033354	Abnormal urine metabolite level	55898	UNC45A	OMIM:619377
HP:0033354	Abnormal urine metabolite level	348	APOE	OMIM:611771
HP:0033354	Abnormal urine metabolite level	4853	NOTCH2	OMIM:610205
HP:0033354	Abnormal urine metabolite level	8516	ITGA8	OMIM:191830
HP:0033354	Abnormal urine metabolite level	9051	PSTPIP1	ORPHA:69126
HP:0033354	Abnormal urine metabolite level	57728	WDR19	OMIM:614376
HP:0033354	Abnormal urine metabolite level	57728	WDR19	OMIM:614377
HP:0033354	Abnormal urine metabolite level	4627	MYH9	ORPHA:182050
HP:0033354	Abnormal urine metabolite level	54938	SARS2	OMIM:613845
HP:0033354	Abnormal urine metabolite level	22909	FAN1	OMIM:614817
HP:0033354	Abnormal urine metabolite level	444	ASPH	OMIM:601552
HP:0033354	Abnormal urine metabolite level	4552	MTRR	OMIM:236270
HP:0033354	Abnormal urine metabolite level	4524	MTHFR	OMIM:236250
HP:0033354	Abnormal urine metabolite level	4524	MTHFR	ORPHA:395
HP:0033354	Abnormal urine metabolite level	55788	LMBRD1	OMIM:277380
HP:0033354	Abnormal urine metabolite level	3054	HCFC1	OMIM:309541
HP:0033354	Abnormal urine metabolite level	875	CBS	OMIM:236200
HP:0033354	Abnormal urine metabolite level	5826	ABCD4	OMIM:614857
HP:0033354	Abnormal urine metabolite level	4548	MTR	OMIM:250940
HP:0033354	Abnormal urine metabolite level	27249	MMADHC	OMIM:277410
HP:0033354	Abnormal urine metabolite level	25974	MMACHC	OMIM:277400
HP:0033354	Abnormal urine metabolite level	5052	PRDX1	OMIM:277400
HP:0033354	Abnormal urine metabolite level	6448	SGSH	OMIM:252900
HP:0033354	Abnormal urine metabolite level	138050	HGSNAT	OMIM:252930
HP:0033354	Abnormal urine metabolite level	4669	NAGLU	OMIM:252920
HP:0033354	Abnormal urine metabolite level	2799	GNS	OMIM:252940
HP:0033354	Abnormal urine metabolite level	2184	FAH	ORPHA:882
HP:0033354	Abnormal urine metabolite level	1594	CYP27B1	OMIM:264700
HP:0033354	Abnormal urine metabolite level	1594	CYP27B1	ORPHA:289157
HP:0033354	Abnormal urine metabolite level	120227	CYP2R1	ORPHA:289157
HP:0033354	Abnormal urine metabolite level	1716	DGUOK	OMIM:251880
HP:0033354	Abnormal urine metabolite level	3033	HADH	OMIM:231530
HP:0033354	Abnormal urine metabolite level	3033	HADH	ORPHA:71212
HP:0033354	Abnormal urine metabolite level	5837	PYGM	OMIM:232600
HP:0033354	Abnormal urine metabolite level	5257	PHKB	ORPHA:79240
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228302
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228305
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228308
HP:0033354	Abnormal urine metabolite level	1376	CPT2	OMIM:255110
HP:0033354	Abnormal urine metabolite level	779	CACNA1S	ORPHA:423
HP:0033354	Abnormal urine metabolite level	6261	RYR1	ORPHA:423
HP:0033354	Abnormal urine metabolite level	6261	RYR1	OMIM:145600
HP:0033354	Abnormal urine metabolite level	23479	ISCU	OMIM:255125
HP:0033354	Abnormal urine metabolite level	226	ALDOA	ORPHA:57
HP:0033354	Abnormal urine metabolite level	23175	LPIN1	OMIM:268200
HP:0033354	Abnormal urine metabolite level	5224	PGAM2	OMIM:261670
HP:0033354	Abnormal urine metabolite level	5256	PHKA2	ORPHA:264580
HP:0033354	Abnormal urine metabolite level	5261	PHKG2	ORPHA:264580
HP:0033354	Abnormal urine metabolite level	90523	MLIP	OMIM:620138
HP:0033354	Abnormal urine metabolite level	3939	LDHA	OMIM:612933
HP:0033354	Abnormal urine metabolite level	6443	SGCB	ORPHA:119
HP:0033354	Abnormal urine metabolite level	5230	PGK1	ORPHA:713
HP:0033354	Abnormal urine metabolite level	3030	HADHA	OMIM:609015
HP:0033354	Abnormal urine metabolite level	1756	DMD	ORPHA:98895
HP:0033354	Abnormal urine metabolite level	203859	ANO5	ORPHA:206549
HP:0033354	Abnormal urine metabolite level	38	ACAT1	ORPHA:134
HP:0033354	Abnormal urine metabolite level	84987	COX14	OMIM:619053
HP:0033354	Abnormal urine metabolite level	10128	LRPPRC	OMIM:220111
HP:0033354	Abnormal urine metabolite level	3155	HMGCL	ORPHA:20
HP:0033354	Abnormal urine metabolite level	3155	HMGCL	OMIM:246450
HP:0033354	Abnormal urine metabolite level	51241	COX16	OMIM:619355
HP:0033354	Abnormal urine metabolite level	5105	PCK1	OMIM:261680
HP:0033354	Abnormal urine metabolite level	1537	CYC1	OMIM:615453
HP:0033354	Abnormal urine metabolite level	1374	CPT1A	OMIM:255120
HP:0033354	Abnormal urine metabolite level	5019	OXCT1	OMIM:245050
HP:0033354	Abnormal urine metabolite level	84693	MCEE	OMIM:251120
HP:0033354	Abnormal urine metabolite level	128989	TANGO2	ORPHA:480864
HP:0033354	Abnormal urine metabolite level	128989	TANGO2	OMIM:616878
HP:0033354	Abnormal urine metabolite level	3767	KCNJ11	ORPHA:79644
HP:0033354	Abnormal urine metabolite level	3767	KCNJ11	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	2639	GCDH	OMIM:231670
HP:0033354	Abnormal urine metabolite level	79783	SUGCT	ORPHA:35706
HP:0033354	Abnormal urine metabolite level	112812	FDX2	OMIM:251900
HP:0033354	Abnormal urine metabolite level	6566	SLC16A1	OMIM:616095
HP:0033354	Abnormal urine metabolite level	6833	ABCC8	OMIM:618857
HP:0033354	Abnormal urine metabolite level	6833	ABCC8	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	2998	GYS2	ORPHA:2089
HP:0033354	Abnormal urine metabolite level	56922	MCCC1	OMIM:210200
HP:0033354	Abnormal urine metabolite level	326625	MMAB	OMIM:251110
HP:0033354	Abnormal urine metabolite level	6774	STAT3	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	2645	GCK	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	3651	PDX1	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	3630	INS	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	3034	HAL	OMIM:235800
HP:0033354	Abnormal urine metabolite level	3034	HAL	ORPHA:2157
HP:0033354	Abnormal urine metabolite level	8462	KLF11	ORPHA:552
HP:0033354	Abnormal urine metabolite level	26060	APPL1	ORPHA:552
HP:0033354	Abnormal urine metabolite level	640	BLK	ORPHA:552
HP:0033354	Abnormal urine metabolite level	1056	CEL	ORPHA:552
HP:0033354	Abnormal urine metabolite level	4760	NEUROD1	ORPHA:552
HP:0033354	Abnormal urine metabolite level	5078	PAX4	ORPHA:552
HP:0033354	Abnormal urine metabolite level	6927	HNF1A	ORPHA:552
HP:0033354	Abnormal urine metabolite level	6524	SLC5A2	ORPHA:69076
HP:0033354	Abnormal urine metabolite level	6524	SLC5A2	OMIM:233100
HP:0033354	Abnormal urine metabolite level	286053	NSMCE2	OMIM:617253
HP:0033354	Abnormal urine metabolite level	6523	SLC5A1	OMIM:606824
HP:0033354	Abnormal urine metabolite level	2627	GATA6	OMIM:600001
HP:0033354	Abnormal urine metabolite level	57570	TRMT5	OMIM:616539
HP:0033354	Abnormal urine metabolite level	387700	SLC16A12	OMIM:612018
HP:0033354	Abnormal urine metabolite level	4000	LMNA	ORPHA:79474
HP:0033354	Abnormal urine metabolite level	8792	TNFRSF11A	OMIM:602080
HP:0033354	Abnormal urine metabolite level	8792	TNFRSF11A	OMIM:174810
HP:0033354	Abnormal urine metabolite level	5352	PLOD2	OMIM:609220
HP:0033354	Abnormal urine metabolite level	2731	GLDC	OMIM:605899
HP:0033354	Abnormal urine metabolite level	275	AMT	OMIM:605899
HP:0033354	Abnormal urine metabolite level	3712	IVD	OMIM:243500
HP:0033354	Abnormal urine metabolite level	153201	SLC36A2	OMIM:242600
HP:0033354	Abnormal urine metabolite level	153201	SLC36A2	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	153201	SLC36A2	OMIM:138500
HP:0033354	Abnormal urine metabolite level	27247	NFU1	OMIM:605711
HP:0033354	Abnormal urine metabolite level	348932	SLC6A18	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	54716	SLC6A20	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	340024	SLC6A19	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	34	ACADM	OMIM:201450
HP:0033354	Abnormal urine metabolite level	5625	PRODH	OMIM:239500
HP:0033354	Abnormal urine metabolite level	64087	MCCC2	OMIM:210210
HP:0033354	Abnormal urine metabolite level	8659	ALDH4A1	OMIM:239510
HP:0033354	Abnormal urine metabolite level	5095	PCCA	OMIM:606054
HP:0033354	Abnormal urine metabolite level	5096	PCCB	OMIM:606054
HP:0033354	Abnormal urine metabolite level	6569	SLC34A1	ORPHA:3337
HP:0033354	Abnormal urine metabolite level	9581	PREPL	OMIM:616224
HP:0033354	Abnormal urine metabolite level	9581	PREPL	ORPHA:163690
HP:0033354	Abnormal urine metabolite level	9581	PREPL	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	5495	PPM1B	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	79823	CAMKMT	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	ORPHA:411543
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	ORPHA:411536
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	OMIM:300661
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	OMIM:300322
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	ORPHA:79233
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	OMIM:300323
HP:0033354	Abnormal urine metabolite level	1491	CTH	OMIM:219500
HP:0033354	Abnormal urine metabolite level	1491	CTH	ORPHA:212
HP:0033354	Abnormal urine metabolite level	6898	TAT	OMIM:276600
HP:0033354	Abnormal urine metabolite level	10243	GPHN	OMIM:615501
HP:0033354	Abnormal urine metabolite level	197322	ACSF3	ORPHA:289504
HP:0033354	Abnormal urine metabolite level	55687	TRMU	OMIM:613070
HP:0033354	Abnormal urine metabolite level	37	ACADVL	OMIM:201475
HP:0033354	Abnormal urine metabolite level	55065	SLC52A1	OMIM:615026
HP:0033354	Abnormal urine metabolite level	788	SLC25A20	OMIM:212138
HP:0033354	Abnormal urine metabolite level	788	SLC25A20	ORPHA:159
HP:0033354	Abnormal urine metabolite level	28976	ACAD9	OMIM:611126
HP:0033354	Abnormal urine metabolite level	28976	ACAD9	ORPHA:99901
HP:0033354	Abnormal urine metabolite level	5195	PEX14	OMIM:614887
HP:0033354	Abnormal urine metabolite level	27034	ACAD8	ORPHA:79159
HP:0033354	Abnormal urine metabolite level	6584	SLC22A5	OMIM:212140
HP:0033354	Abnormal urine metabolite level	790	CAD	OMIM:616457
HP:0033354	Abnormal urine metabolite level	383	ARG1	OMIM:207800
HP:0033354	Abnormal urine metabolite level	445	ASS1	OMIM:215700
HP:0033354	Abnormal urine metabolite level	498	ATP5F1A	OMIM:620358
HP:0033354	Abnormal urine metabolite level	10166	SLC25A15	ORPHA:415
HP:0033354	Abnormal urine metabolite level	23474	ETHE1	ORPHA:51188
HP:0033354	Abnormal urine metabolite level	23474	ETHE1	OMIM:602473
HP:0033354	Abnormal urine metabolite level	3329	HSPD1	OMIM:612233
HP:0033354	Abnormal urine metabolite level	5428	POLG	OMIM:203700
HP:0033354	Abnormal urine metabolite level	2108	ETFA	OMIM:231680
HP:0033354	Abnormal urine metabolite level	2109	ETFB	OMIM:231680
HP:0033354	Abnormal urine metabolite level	2110	ETFDH	OMIM:231680
HP:0033354	Abnormal urine metabolite level	8802	SUCLG1	ORPHA:17
HP:0033354	Abnormal urine metabolite level	35	ACADS	OMIM:201470
HP:0033354	Abnormal urine metabolite level	35	ACADS	ORPHA:26792
HP:0033354	Abnormal urine metabolite level	249	ALPL	OMIM:241500
HP:0033354	Abnormal urine metabolite level	249	ALPL	OMIM:241510
HP:0033354	Abnormal urine metabolite level	3000	GUCY2D	OMIM:204000
HP:0033354	Abnormal urine metabolite level	133686	NADK2	OMIM:616034
HP:0033354	Abnormal urine metabolite level	80207	OPA3	OMIM:258501
HP:0033354	Abnormal urine metabolite level	131118	DNAJC19	OMIM:610198
HP:0033354	Abnormal urine metabolite level	27429	HTRA2	OMIM:617248
HP:0033354	Abnormal urine metabolite level	92609	TIMM50	OMIM:617698
HP:0033354	Abnormal urine metabolite level	6530	SLC6A2	OMIM:604715
HP:0033354	Abnormal urine metabolite level	435	ASL	ORPHA:23
HP:0033354	Abnormal urine metabolite level	435	ASL	OMIM:207900
HP:0033354	Abnormal urine metabolite level	1497	CTNS	OMIM:219800
HP:0033354	Abnormal urine metabolite level	1497	CTNS	ORPHA:411629
HP:0033354	Abnormal urine metabolite level	1497	CTNS	ORPHA:411634
HP:0033354	Abnormal urine metabolite level	6505	SLC1A1	OMIM:222730
HP:0033354	Abnormal urine metabolite level	4952	OCRL	OMIM:300555
HP:0033354	Abnormal urine metabolite level	4952	OCRL	OMIM:309000
HP:0033354	Abnormal urine metabolite level	4952	OCRL	ORPHA:534
HP:0033354	Abnormal urine metabolite level	51095	TRNT1	OMIM:616084
HP:0033354	Abnormal urine metabolite level	4574	MT-TS1	OMIM:220110
HP:0033354	Abnormal urine metabolite level	4570	MT-TN	OMIM:220110
HP:0033354	Abnormal urine metabolite level	6834	SURF1	OMIM:220110
HP:0033354	Abnormal urine metabolite level	54914	FOCAD	OMIM:619991
HP:0033354	Abnormal urine metabolite level	2592	GALT	OMIM:230400
HP:0033354	Abnormal urine metabolite level	84334	COA8	ORPHA:436271
HP:0033354	Abnormal urine metabolite level	10667	FARS2	OMIM:614946
HP:0033354	Abnormal urine metabolite level	1184	CLCN5	OMIM:308990
HP:0033354	Abnormal urine metabolite level	1184	CLCN5	OMIM:300009
HP:0033354	Abnormal urine metabolite level	5830	PEX5	OMIM:214110
HP:0033354	Abnormal urine metabolite level	1373	CPS1	ORPHA:147
HP:0033354	Abnormal urine metabolite level	5009	OTC	ORPHA:664
HP:0033354	Abnormal urine metabolite level	7372	UMPS	ORPHA:30
HP:0033354	Abnormal urine metabolite level	617	BCS1L	OMIM:603358
HP:0033354	Abnormal urine metabolite level	617	BCS1L	OMIM:124000
HP:0033354	Abnormal urine metabolite level	4141	MARS1	OMIM:615486
HP:0033354	Abnormal urine metabolite level	2628	GATM	OMIM:134600
HP:0033354	Abnormal urine metabolite level	137682	NDUFAF6	OMIM:618913
HP:0033354	Abnormal urine metabolite level	55503	TRPV6	ORPHA:417
HP:0033354	Abnormal urine metabolite level	846	CASR	ORPHA:417
HP:0033354	Abnormal urine metabolite level	846	CASR	OMIM:239200
HP:0033354	Abnormal urine metabolite level	2729	GCLC	ORPHA:33574
HP:0033354	Abnormal urine metabolite level	4758	NEU1	ORPHA:812
HP:0033354	Abnormal urine metabolite level	1962	EHHADH	OMIM:615605
HP:0033354	Abnormal urine metabolite level	540	ATP7B	OMIM:277900
HP:0033354	Abnormal urine metabolite level	5189	PEX1	OMIM:214100
HP:0033354	Abnormal urine metabolite level	4942	OAT	ORPHA:414
HP:0033354	Abnormal urine metabolite level	2271	FH	OMIM:606812
HP:0033354	Abnormal urine metabolite level	10559	SLC35A1	OMIM:603585
HP:0033354	Abnormal urine metabolite level	100131801	PET100	OMIM:619055
HP:0033354	Abnormal urine metabolite level	10841	FTCD	OMIM:229100
HP:0033354	Abnormal urine metabolite level	10560	SLC19A2	OMIM:249270
HP:0033354	Abnormal urine metabolite level	7084	TK2	OMIM:609560
HP:0033354	Abnormal urine metabolite level	3172	HNF4A	OMIM:616026
HP:0033354	Abnormal urine metabolite level	50628	GEMIN4	OMIM:617913
HP:0033354	Abnormal urine metabolite level	8942	KYNU	OMIM:236800
HP:0033354	Abnormal urine metabolite level	4668	NAGA	OMIM:609242
HP:0033354	Abnormal urine metabolite level	91647	ATPAF2	OMIM:604273
HP:0033354	Abnormal urine metabolite level	3081	HGD	ORPHA:56
HP:0033354	Abnormal urine metabolite level	9056	SLC7A7	OMIM:222700
HP:0033354	Abnormal urine metabolite level	26276	VPS33B	OMIM:208085
HP:0033354	Abnormal urine metabolite level	8803	SUCLA2	OMIM:612073
HP:0033354	Abnormal urine metabolite level	8803	SUCLA2	ORPHA:1933
HP:0033354	Abnormal urine metabolite level	132158	GLYCTK	OMIM:220120
HP:0033354	Abnormal urine metabolite level	9054	NFS1	OMIM:619386
HP:0033354	Abnormal urine metabolite level	50484	RRM2B	OMIM:612075
HP:0033354	Abnormal urine metabolite level	63894	VIPAS39	OMIM:613404
HP:0033354	Abnormal urine metabolite level	26275	HIBCH	OMIM:250620
HP:0033354	Abnormal urine metabolite level	2068	ERCC2	ORPHA:910
HP:0033354	Abnormal urine metabolite level	7507	XPA	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2071	ERCC3	ORPHA:910
HP:0033354	Abnormal urine metabolite level	7508	XPC	ORPHA:910
HP:0033354	Abnormal urine metabolite level	1643	DDB2	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2072	ERCC4	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2073	ERCC5	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2582	GALE	OMIM:230350
HP:0033354	Abnormal urine metabolite level	11005	SPINK5	ORPHA:634
HP:0033354	Abnormal urine metabolite level	4337	MOCS1	OMIM:252150
HP:0033354	Abnormal urine metabolite level	6821	SUOX	OMIM:272300
HP:0033354	Abnormal urine metabolite level	6999	TDO2	OMIM:600627
HP:0033354	Abnormal urine metabolite level	6557	SLC12A1	OMIM:601678
HP:0033354	Abnormal urine metabolite level	7809	BSND	ORPHA:89938
HP:0033354	Abnormal urine metabolite level	1187	CLCNKA	ORPHA:89938
HP:0033354	Abnormal urine metabolite level	3758	KCNJ1	OMIM:241200
HP:0033354	Abnormal urine metabolite level	11136	SLC7A9	OMIM:220100
HP:0033354	Abnormal urine metabolite level	6519	SLC3A1	OMIM:220100
HP:0033354	Abnormal urine metabolite level	513	ATP5F1D	OMIM:618120
HP:0033354	Abnormal urine metabolite level	125988	MICOS13	OMIM:618329
HP:0033354	Abnormal urine metabolite level	125988	MICOS13	ORPHA:67047
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:619835
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:619813
HP:0033354	Abnormal urine metabolite level	81570	CLPB	ORPHA:445038
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:616271
HP:0033354	Abnormal urine metabolite level	549	AUH	OMIM:250950
HP:0033354	Abnormal urine metabolite level	549	AUH	ORPHA:67046
HP:0033354	Abnormal urine metabolite level	55750	AGK	OMIM:212350
HP:0033354	Abnormal urine metabolite level	55210	ATAD3A	ORPHA:496790
HP:0033354	Abnormal urine metabolite level	54968	TMEM70	OMIM:614052
HP:0033354	Abnormal urine metabolite level	54968	TMEM70	ORPHA:1194
HP:0033354	Abnormal urine metabolite level	514	ATP5F1E	OMIM:614053
HP:0033354	Abnormal urine metabolite level	6901	TAFAZZIN	OMIM:302060
HP:0033354	Abnormal urine metabolite level	84947	SERAC1	OMIM:614739
HP:0033354	Abnormal urine metabolite level	2990	GUSB	OMIM:253220
HP:0033354	Abnormal urine metabolite level	3425	IDUA	OMIM:607014
HP:0033354	Abnormal urine metabolite level	3423	IDS	OMIM:309900
HP:0033354	Abnormal urine metabolite level	7019	TFAM	OMIM:617156
HP:0033354	Abnormal urine metabolite level	2328	FMO3	OMIM:602079
HP:0033354	Abnormal urine metabolite level	2328	FMO3	ORPHA:468726
HP:0033354	Abnormal urine metabolite level	8573	CASK	OMIM:300908
HP:0033354	Abnormal urine metabolite level	2539	G6PD	OMIM:300908
HP:0033354	Abnormal urine metabolite level	51251	NT5C3A	OMIM:266120
HP:0033354	Abnormal urine metabolite level	9780	PIEZO1	OMIM:194380
HP:0033354	Abnormal urine metabolite level	229	ALDOB	OMIM:229600
HP:0033354	Abnormal urine metabolite level	51604	PIGT	OMIM:615399
HP:0033354	Abnormal urine metabolite level	966	CD59	OMIM:612300
HP:0033354	Abnormal urine metabolite level	285362	SUMF1	ORPHA:585
HP:0033354	Abnormal urine metabolite level	285362	SUMF1	OMIM:272200
HP:0033354	Abnormal urine metabolite level	84572	GNPTG	OMIM:252605
HP:0033354	Abnormal urine metabolite level	6023	RMRP	ORPHA:175
HP:0033354	Abnormal urine metabolite level	59341	TRPV4	OMIM:184095
HP:0033354	Abnormal urine metabolite level	5286	PIK3C2A	OMIM:618440
HP:0033354	Abnormal urine metabolite level	79158	GNPTAB	OMIM:252600
HP:0033354	Abnormal urine metabolite level	79158	GNPTAB	OMIM:252500
HP:0033354	Abnormal urine metabolite level	4724	NDUFS4	OMIM:252010
HP:0033354	Abnormal urine metabolite level	153642	ARSK	OMIM:619698
HP:0033354	Abnormal urine metabolite level	411	ARSB	OMIM:253200
HP:0033354	Abnormal urine metabolite level	5213	PFKM	OMIM:232800
HP:0033354	Abnormal urine metabolite level	729920	CRPPA	ORPHA:352479
HP:0033354	Abnormal urine metabolite level	5255	PHKA1	OMIM:300559
HP:0033354	Abnormal urine metabolite level	79147	FKRP	OMIM:607155
HP:0033354	Abnormal urine metabolite level	57393	CLTRN	ORPHA:2116
HP:0033354	Abnormal urine metabolite level	4125	MAN2B1	ORPHA:309282
HP:0033354	Abnormal urine metabolite level	4125	MAN2B1	ORPHA:309288
HP:0033354	Abnormal urine metabolite level	2548	GAA	ORPHA:308552
HP:0033354	Abnormal urine metabolite level	57231	SNX14	OMIM:616354
HP:0033354	Abnormal urine metabolite level	57231	SNX14	ORPHA:397709
HP:0033354	Abnormal urine metabolite level	7389	UROD	OMIM:176100
HP:0033354	Abnormal urine metabolite level	28234	SLCO1B3	ORPHA:3111
HP:0033354	Abnormal urine metabolite level	10599	SLCO1B1	ORPHA:3111
HP:0033354	Abnormal urine metabolite level	1757	SARDH	ORPHA:3129
HP:0033354	Abnormal urine metabolite level	7498	XDH	OMIM:278300
HP:0033354	Abnormal urine metabolite level	55034	MOCOS	OMIM:603592
HP:0033354	Abnormal urine metabolite level	4860	PNP	ORPHA:760
HP:0033354	Abnormal urine metabolite level	4338	MOCS2	OMIM:252160
HP:0033354	Abnormal urine metabolite level	595	CCND1	ORPHA:892
HP:0033354	Abnormal urine metabolite level	4613	MYCN	ORPHA:635
HP:0033354	Abnormal urine metabolite level	7153	TOP2A	ORPHA:635
HP:0033354	Abnormal urine metabolite level	238	ALK	ORPHA:635
HP:0033354	Abnormal urine metabolite level	389421	LIN28B	ORPHA:635
HP:0033354	Abnormal urine metabolite level	4004	LMO1	ORPHA:635
HP:0033354	Abnormal urine metabolite level	57531	HACE1	ORPHA:635
HP:0033354	Abnormal urine metabolite level	8929	PHOX2B	ORPHA:635
HP:0033354	Abnormal urine metabolite level	6571	SLC18A2	OMIM:618049
HP:0033354	Abnormal urine metabolite level	1621	DBH	ORPHA:230
HP:0033354	Abnormal urine metabolite level	2584	GALK1	OMIM:230200
HP:0033354	Abnormal urine metabolite level	9652	SKIC3	OMIM:222470
HP:0033354	Abnormal urine metabolite level	4126	MANBA	OMIM:248510
HP:0033354	Abnormal urine metabolite level	2517	FUCA1	OMIM:230000
HP:0033354	Abnormal urine metabolite level	175	AGA	OMIM:208400
HP:0033354	Abnormal urine metabolite level	175	AGA	ORPHA:93
HP:0033354	Abnormal urine metabolite level	1280	COL2A1	ORPHA:485
HP:0033354	Abnormal urine metabolite level	2720	GLB1	OMIM:253010
HP:0033354	Abnormal urine metabolite level	2588	GALNS	OMIM:253000
HP:0033354	Abnormal urine metabolite level	55768	NGLY1	OMIM:615273
HP:0033354	Abnormal urine metabolite level	119559	SFXN4	OMIM:615578
HP:0033354	Abnormal urine metabolite level	4329	ALDH6A1	OMIM:614105
HP:0033354	Abnormal urine metabolite level	6948	TCN2	OMIM:275350
HP:0033354	Abnormal urine metabolite level	6948	TCN2	ORPHA:859
HP:0033354	Abnormal urine metabolite level	4594	MMUT	OMIM:251000
HP:0033354	Abnormal urine metabolite level	51293	CD320	OMIM:613646
HP:0033354	Abnormal urine metabolite level	1806	DPYD	OMIM:274270
HP:0033354	Abnormal urine metabolite level	1806	DPYD	ORPHA:1675
HP:0033354	Abnormal urine metabolite level	1807	DPYS	OMIM:222748
HP:0033354	Abnormal urine metabolite level	5498	PPOX	OMIM:176200
HP:0033354	Abnormal urine metabolite level	5498	PPOX	ORPHA:79473
HP:0033354	Abnormal urine metabolite level	3077	HFE	OMIM:176200
HP:0033354	Abnormal urine metabolite level	1371	CPOX	ORPHA:79273
HP:0033354	Abnormal urine metabolite level	1371	CPOX	OMIM:121300
HP:0033354	Abnormal urine metabolite level	1371	CPOX	OMIM:618892
HP:0033354	Abnormal urine metabolite level	210	ALAD	ORPHA:100924
HP:0033354	Abnormal urine metabolite level	3145	HMBS	ORPHA:79276
HP:0033354	Abnormal urine metabolite level	7390	UROS	ORPHA:79277
HP:0033354	Abnormal urine metabolite level	2623	GATA1	ORPHA:79277
HP:0033354	Abnormal urine metabolite level	131669	UROC1	OMIM:276880
HP:0033354	Abnormal urine metabolite level	131669	UROC1	ORPHA:210128
HP:0033354	Abnormal urine metabolite level	728294	D2HGDH	OMIM:600721
HP:0033354	Abnormal urine metabolite level	3418	IDH2	OMIM:613657
HP:0033354	Abnormal urine metabolite level	3417	IDH1	ORPHA:99646
HP:0033354	Abnormal urine metabolite level	4967	OGDH	ORPHA:31
HP:0033354	Abnormal urine metabolite level	9488	PIGB	OMIM:618580
HP:0033354	Abnormal urine metabolite level	2746	GLUD1	ORPHA:35878
HP:0033354	Abnormal urine metabolite level	57465	TBC1D24	OMIM:220500
HP:0033354	Abnormal urine metabolite level	57465	TBC1D24	ORPHA:79500
HP:0033354	Abnormal urine metabolite level	27010	TPK1	OMIM:614458
HP:0033354	Abnormal urine metabolite level	1738	DLD	ORPHA:2394
HP:0033354	Abnormal urine metabolite level	526	ATP6V1B2	ORPHA:79500
HP:0033354	Abnormal urine metabolite level	10686	CLDN16	OMIM:248250
HP:0033354	Abnormal urine metabolite level	9493	KIF23	OMIM:105600
HP:0033354	Abnormal urine metabolite level	51726	DNAJB11	ORPHA:730
HP:0033354	Abnormal urine metabolite level	23193	GANAB	ORPHA:730
HP:0033354	Abnormal urine metabolite level	5310	PKD1	ORPHA:730
HP:0033354	Abnormal urine metabolite level	5311	PKD2	ORPHA:730
HP:0033354	Abnormal urine metabolite level	29880	ALG5	ORPHA:730
HP:0033354	Abnormal urine metabolite level	9742	IFT140	ORPHA:730
HP:0033354	Abnormal urine metabolite level	79796	ALG9	ORPHA:730
HP:0033354	Abnormal urine metabolite level	80114	BICC1	ORPHA:730
HP:0033354	Abnormal urine metabolite level	975	CD81	OMIM:613496
HP:0033354	Abnormal urine metabolite level	1650	DDOST	ORPHA:300536
HP:0033354	Abnormal urine metabolite level	9722	NOS1AP	OMIM:619155
HP:0033354	Abnormal urine metabolite level	375056	MIA3	OMIM:619269
HP:0033354	Abnormal urine metabolite level	51124	IER3IP1	OMIM:614231
HP:0033354	Abnormal urine metabolite level	55610	VPS50	OMIM:619685
HP:0033354	Abnormal urine metabolite level	3735	KARS1	OMIM:619147
HP:0033354	Abnormal urine metabolite level	56606	SLC2A9	ORPHA:94088
HP:0033354	Abnormal urine metabolite level	10861	SLC26A1	OMIM:620372
HP:0033354	Abnormal urine metabolite level	7381	UQCRB	OMIM:615158
HP:0033354	Abnormal urine metabolite level	23729	SHPK	OMIM:617213
HP:0033354	Abnormal urine metabolite level	51601	LIPT1	OMIM:616299
HP:0033354	Abnormal urine metabolite level	85007	PHYKPL	OMIM:615011
HP:0033354	Abnormal urine metabolite level	29958	DMGDH	OMIM:605850
HP:0033354	Abnormal urine metabolite level	51181	DCXR	ORPHA:2843
HP:0033354	Abnormal urine metabolite level	3795	KHK	ORPHA:2056
HP:0033354	Abnormal urine metabolite level	4882	NPR2	OMIM:615923
HP:0033354	Abnormal urine metabolite level	443	ASPA	OMIM:271900
HP:0033354	Abnormal urine metabolite level	64849	SLC13A3	OMIM:618384
HP:0033354	Abnormal urine metabolite level	10157	AASS	ORPHA:3124
HP:0033354	Abnormal urine metabolite level	64902	AGXT2	OMIM:210100
HP:0033354	Abnormal urine metabolite level	200205	IBA57	OMIM:615330
HP:0033354	Abnormal urine metabolite level	4716	NDUFB10	OMIM:619003
HP:0033354	Abnormal urine metabolite level	9154	SLC28A1	OMIM:618477
HP:0033354	Abnormal urine metabolite level	4598	MVK	OMIM:260920
HP:0033354	Abnormal urine metabolite level	4598	MVK	OMIM:610377
HP:0033354	Abnormal urine metabolite level	6341	SCO1	OMIM:619048
HP:0033354	Abnormal urine metabolite level	5184	PEPD	OMIM:170100
HP:0033354	Abnormal urine metabolite level	763	CA5A	OMIM:615751
HP:0033354	Abnormal urine metabolite level	23417	MLYCD	OMIM:248360
HP:0033354	Abnormal urine metabolite level	36	ACADSB	OMIM:610006
HP:0033354	Abnormal urine metabolite level	4982	TNFRSF11B	OMIM:239000
HP:0033354	Abnormal urine metabolite level	5092	PCBD1	OMIM:264070
HP:0033354	Abnormal urine metabolite level	3141	HLCS	OMIM:253270
HP:0033354	Abnormal urine metabolite level	1147	CHUK	OMIM:613630
HP:0033354	Abnormal urine metabolite level	5351	PLOD1	OMIM:225400
HP:0033354	Abnormal urine metabolite level	6578	SLCO2A1	OMIM:167100
HP:0033354	Abnormal urine metabolite level	3242	HPD	OMIM:140350
HP:0033354	Abnormal urine metabolite level	5053	PAH	OMIM:261600
HP:0033354	Abnormal urine metabolite level	55526	DHTKD1	OMIM:204750
HP:0033354	Abnormal urine metabolite level	471	ATIC	OMIM:608688
HP:0033354	Abnormal urine metabolite level	2678	GGT1	OMIM:231950
HP:0033354	Abnormal urine metabolite level	166785	MMAA	OMIM:251100
HP:0033354	Abnormal urine metabolite level	6576	SLC25A1	OMIM:615182
HP:0033354	Abnormal urine metabolite level	79944	L2HGDH	OMIM:236792
HP:0033354	Abnormal urine metabolite level	10165	SLC25A13	ORPHA:247598
HP:0033354	Abnormal urine metabolite level	2203	FBP1	OMIM:229700
HP:0033354	Abnormal urine metabolite level	2203	FBP1	ORPHA:348
HP:0033354	Abnormal urine metabolite level	2710	GK	OMIM:307030
HP:0033354	Abnormal urine metabolite level	1629	DBT	OMIM:248600
HP:0033354	Abnormal urine metabolite level	593	BCKDHA	OMIM:248600
HP:0033354	Abnormal urine metabolite level	594	BCKDHB	OMIM:248600
HP:0033354	Abnormal urine metabolite level	3553	IL1B	OMIM:613659
HP:0033354	Abnormal urine metabolite level	4595	MUTYH	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3557	IL1RN	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3845	KRAS	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3845	KRAS	OMIM:260350
HP:0033354	Abnormal urine metabolite level	843	CASP10	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3659	IRF1	OMIM:613659
HP:0033354	Abnormal urine metabolite level	2064	ERBB2	OMIM:613659
HP:0033354	Abnormal urine metabolite level	5290	PIK3CA	OMIM:613659
HP:0033354	Abnormal urine metabolite level	1316	KLF6	OMIM:613659
HP:0033354	Abnormal urine metabolite level	324	APC	OMIM:613659
HP:0033354	Abnormal urine metabolite level	2263	FGFR2	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3875	KRT18	OMIM:215600
HP:0033354	Abnormal urine metabolite level	6794	STK11	OMIM:260350
HP:0033354	Abnormal urine metabolite level	7157	TP53	OMIM:260350
HP:0033354	Abnormal urine metabolite level	4089	SMAD4	OMIM:260350
HP:0033354	Abnormal urine metabolite level	7086	TKT	ORPHA:488618
HP:0033354	Abnormal urine metabolite level	22934	RPIA	OMIM:608611
HP:0033354	Abnormal urine metabolite level	26873	OPLAH	OMIM:260005
HP:0033354	Abnormal urine metabolite level	2937	GSS	OMIM:266130
HP:0033354	Abnormal urine metabolite level	2937	GSS	OMIM:231900
HP:0033354	Abnormal urine metabolite level	10020	GNE	OMIM:269921
HP:0033354	Abnormal urine metabolite level	3954	LETM1	OMIM:620089
HP:0033354	Abnormal urine metabolite level	3028	HSD17B10	ORPHA:391457
HP:0033354	Abnormal urine metabolite level	3028	HSD17B10	ORPHA:391428
HP:0033354	Abnormal urine metabolite level	7915	ALDH5A1	OMIM:271980
HP:0033355	Increased urine deoxypyridinoline level	4982	TNFRSF11B	OMIM:239000
HP:0033357	Limited head rotation	29895	MYL11	OMIM:619110
HP:0033358	Abnormal urine osmolality	554	AVPR2	ORPHA:223
HP:0033358	Abnormal urine osmolality	554	AVPR2	OMIM:300539
HP:0033358	Abnormal urine osmolality	359	AQP2	ORPHA:223
HP:0033358	Abnormal urine osmolality	6557	SLC12A1	OMIM:601678
HP:0033358	Abnormal urine osmolality	9915	ARNT2	OMIM:615926
HP:0033358	Abnormal urine osmolality	1184	CLCN5	OMIM:308990
HP:0033358	Abnormal urine osmolality	3758	KCNJ1	OMIM:241200
HP:0033358	Abnormal urine osmolality	4867	NPHP1	OMIM:256100
HP:0033362	Recurrent coughing spasms	4359	MPZ	OMIM:607736
HP:0033363	Hyaline membranes	60558	GUF1	OMIM:617065
HP:0033369	Cavitating leukodystrophy	84334	COA8	OMIM:619061
HP:0033379	Bilateral superior vena cava	54892	NCAPG2	OMIM:618460
HP:0033379	Bilateral superior vena cava	4087	SMAD2	OMIM:619657
HP:0033379	Bilateral superior vena cava	8772	FADD	OMIM:613759
HP:0033379	Bilateral superior vena cava	7547	ZIC3	OMIM:306955
HP:0033379	Bilateral superior vena cava	55315	SLC29A3	OMIM:602782
HP:0033379	Bilateral superior vena cava	81857	MED25	ORPHA:464738
HP:0033379	Bilateral superior vena cava	100128908	CIROP	OMIM:619702
HP:0033379	Bilateral superior vena cava	5567	PRKACB	OMIM:619143
HP:0033379	Bilateral superior vena cava	93	ACVR2B	OMIM:613751
HP:0033379	Bilateral superior vena cava	10128	LRPPRC	OMIM:220111
HP:0033379	Bilateral superior vena cava	55997	CFC1	OMIM:605376
HP:0033380	Nasal chondritis	7317	UBA1	OMIM:301054
HP:0033383	Decreased compound muscle action potential amplitude	10049	DNAJB6	OMIM:603511
HP:0033383	Decreased compound muscle action potential amplitude	23064	SETX	OMIM:602433
HP:0033383	Decreased compound muscle action potential amplitude	7879	RAB7A	OMIM:600882
HP:0033383	Decreased compound muscle action potential amplitude	10280	SIGMAR1	OMIM:605726
HP:0033383	Decreased compound muscle action potential amplitude	11117	EMILIN1	OMIM:620080
HP:0033383	Decreased compound muscle action potential amplitude	7384	UQCRC1	OMIM:619279
HP:0033383	Decreased compound muscle action potential amplitude	6843	VAMP1	OMIM:618323
HP:0033383	Decreased compound muscle action potential amplitude	5375	PMP2	OMIM:618279
HP:0033383	Decreased compound muscle action potential amplitude	127833	SYT2	OMIM:616040
HP:0033383	Decreased compound muscle action potential amplitude	7317	UBA1	OMIM:301830
HP:0033383	Decreased compound muscle action potential amplitude	26580	BSCL2	OMIM:619112
HP:0033383	Decreased compound muscle action potential amplitude	57863	CADM3	OMIM:619519
HP:0033383	Decreased compound muscle action potential amplitude	3735	KARS1	OMIM:613641
HP:0033383	Decreased compound muscle action potential amplitude	57679	ALS2	OMIM:606353
HP:0033384	Elevated urinary collagen degradation products	2335	FN1	ORPHA:93315
HP:0033384	Elevated urinary collagen degradation products	1280	COL2A1	ORPHA:93315
HP:0033384	Elevated urinary collagen degradation products	4882	NPR2	OMIM:615923
HP:0033384	Elevated urinary collagen degradation products	4982	TNFRSF11B	OMIM:239000
HP:0033393	Irregularly shaped sperm tail	91057	CCDC34	OMIM:620084
HP:0033393	Irregularly shaped sperm tail	1769	DNAH8	OMIM:619095
HP:0033393	Irregularly shaped sperm tail	199223	TTC21A	OMIM:618429
HP:0033393	Irregularly shaped sperm tail	286464	CFAP47	OMIM:301059
HP:0033393	Irregularly shaped sperm tail	144132	DNHD1	OMIM:619712
HP:0033393	Irregularly shaped sperm tail	196385	DNAH10	OMIM:619515
HP:0033393	Irregularly shaped sperm tail	57728	WDR19	OMIM:619867
HP:0033393	Irregularly shaped sperm tail	25981	DNAH1	OMIM:617576
HP:0033393	Irregularly shaped sperm tail	144406	CFAP251	OMIM:618152
HP:0033393	Irregularly shaped sperm tail	401024	FSIP2	OMIM:618153
HP:0033393	Irregularly shaped sperm tail	89876	CFAP91	OMIM:619177
HP:0033393	Irregularly shaped sperm tail	80173	IFT74	OMIM:619585
HP:0033399	Persistent fever	57169	ZNFX1	OMIM:619644
HP:0030900	Pruritus on foot	5205	ATP8B1	ORPHA:69665
HP:0030900	Pruritus on foot	8647	ABCB11	ORPHA:69665
HP:0030900	Pruritus on foot	5244	ABCB4	ORPHA:69665
HP:0030900	Pruritus on foot	9971	NR1H4	ORPHA:69665
HP:0030902	Palmomental reflex	4311	MME	OMIM:617018
HP:0030902	Palmomental reflex	23400	ATP13A2	OMIM:606693
HP:0030903	Grasp reflex	10381	TUBB3	ORPHA:300570
HP:0030903	Grasp reflex	5277	PIGA	OMIM:301072
HP:0030903	Grasp reflex	16	AARS1	OMIM:619661
HP:0030904	Glabellar reflex	9829	DNAJC6	OMIM:615528
HP:0030904	Glabellar reflex	2760	GM2A	ORPHA:309246
HP:0030904	Glabellar reflex	2743	GLRB	OMIM:614619
HP:0030906	Suck reflex	55768	NGLY1	OMIM:615273
HP:0030906	Suck reflex	55768	NGLY1	ORPHA:404454
HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity	50943	FOXP3	ORPHA:37042
HP:0030913	Exaggerated rugosity of the labia majora	2516	NR5A1	OMIM:612965
HP:0030914	Abnormal peristalsis	54809	SAMD9	OMIM:617053
HP:0030914	Abnormal peristalsis	2982	GUCY1A1	OMIM:615750
HP:0030914	Abnormal peristalsis	55699	IARS2	OMIM:616007
HP:0030914	Abnormal peristalsis	55699	IARS2	ORPHA:436174
HP:0030914	Abnormal peristalsis	6774	STAT3	OMIM:615952
HP:0030914	Abnormal peristalsis	10625	IVNS1ABP	OMIM:618969
HP:0030914	Abnormal peristalsis	29926	GMPPA	OMIM:615510
HP:0030914	Abnormal peristalsis	29926	GMPPA	ORPHA:869
HP:0030914	Abnormal peristalsis	60684	TRAPPC11	OMIM:615356
HP:0030914	Abnormal peristalsis	60684	TRAPPC11	ORPHA:869
HP:0030914	Abnormal peristalsis	8086	AAAS	ORPHA:869
HP:0030914	Abnormal peristalsis	8086	AAAS	OMIM:231550
HP:0030914	Abnormal peristalsis	2717	GLA	ORPHA:324
HP:0030914	Abnormal peristalsis	60	ACTB	ORPHA:79107
HP:0030914	Abnormal peristalsis	60	ACTB	OMIM:607371
HP:0030914	Abnormal peristalsis	4212	MEIS2	OMIM:600987
HP:0030914	Abnormal peristalsis	28982	FLVCR1	OMIM:609033
HP:0030914	Abnormal peristalsis	1288	COL4A6	ORPHA:1018
HP:0030914	Abnormal peristalsis	1287	COL4A5	ORPHA:1018
HP:0030914	Abnormal peristalsis	79827	CLMP	OMIM:615237
HP:0030914	Abnormal peristalsis	283446	MYO1H	OMIM:619482
HP:0030914	Abnormal peristalsis	4629	MYH11	OMIM:619350
HP:0030914	Abnormal peristalsis	8929	PHOX2B	OMIM:209880
HP:0030914	Abnormal peristalsis	5885	RAD21	OMIM:611376
HP:0030914	Abnormal peristalsis	25802	LMOD1	ORPHA:2241
HP:0030914	Abnormal peristalsis	72	ACTG2	ORPHA:2241
HP:0030914	Abnormal peristalsis	4638	MYLK	ORPHA:2241
HP:0030914	Abnormal peristalsis	59	ACTA2	OMIM:613834
HP:0030914	Abnormal peristalsis	10398	MYL9	OMIM:619365
HP:0030915	Cerebellar edema	6326	SCN2A	OMIM:618924
HP:0030915	Cerebellar edema	128240	NAXE	OMIM:617186
HP:0030917	Low APGAR score	4534	MTM1	ORPHA:596
HP:0030917	Low APGAR score	55163	PNPO	ORPHA:79096
HP:0030917	Low APGAR score	9361	LONP1	ORPHA:79243
HP:0030917	Low APGAR score	5160	PDHA1	ORPHA:79243
HP:0030917	Low APGAR score	501	ALDH7A1	ORPHA:3006
HP:0030917	Low APGAR score	11212	PLPBP	ORPHA:3006
HP:0030917	Low APGAR score	55784	MCTP2	ORPHA:1596
HP:0030917	Low APGAR score	7681	MKRN3	OMIM:176270
HP:0030917	Low APGAR score	3653	IPW	OMIM:176270
HP:0030917	Low APGAR score	54551	MAGEL2	OMIM:176270
HP:0030917	Low APGAR score	791114	PWRN1	OMIM:176270
HP:0030917	Low APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030917	Low APGAR score	8924	HERC2	OMIM:176270
HP:0030917	Low APGAR score	145624	PWAR1	OMIM:176270
HP:0030917	Low APGAR score	23742	NPAP1	OMIM:176270
HP:0030917	Low APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030917	Low APGAR score	5631	PRPS1	ORPHA:423479
HP:0030917	Low APGAR score	2261	FGFR3	OMIM:187600
HP:0030917	Low APGAR score	8239	USP9X	ORPHA:480880
HP:0030918	Low 1-minute APGAR score	55784	MCTP2	ORPHA:1596
HP:0030918	Low 1-minute APGAR score	4534	MTM1	OMIM:310400
HP:0030918	Low 1-minute APGAR score	7681	MKRN3	OMIM:176270
HP:0030918	Low 1-minute APGAR score	3653	IPW	OMIM:176270
HP:0030918	Low 1-minute APGAR score	54551	MAGEL2	OMIM:176270
HP:0030918	Low 1-minute APGAR score	791114	PWRN1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	8924	HERC2	OMIM:176270
HP:0030918	Low 1-minute APGAR score	145624	PWAR1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	23742	NPAP1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	5631	PRPS1	ORPHA:423479
HP:0030918	Low 1-minute APGAR score	2261	FGFR3	OMIM:187600
HP:0030918	Low 1-minute APGAR score	8239	USP9X	ORPHA:480880
HP:0030919	Low 5-minute APGAR score	4534	MTM1	OMIM:310400
HP:0030919	Low 5-minute APGAR score	7681	MKRN3	OMIM:176270
HP:0030919	Low 5-minute APGAR score	3653	IPW	OMIM:176270
HP:0030919	Low 5-minute APGAR score	54551	MAGEL2	OMIM:176270
HP:0030919	Low 5-minute APGAR score	791114	PWRN1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	8924	HERC2	OMIM:176270
HP:0030919	Low 5-minute APGAR score	145624	PWAR1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	23742	NPAP1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	2261	FGFR3	OMIM:187600
HP:0030919	Low 5-minute APGAR score	5631	PRPS1	ORPHA:423479
HP:0030919	Low 5-minute APGAR score	8239	USP9X	ORPHA:480880
HP:0030921	5-minute APGAR score of 1	2261	FGFR3	OMIM:187600
HP:0030921	5-minute APGAR score of 1	5631	PRPS1	ORPHA:423479
HP:0030925	5-minute APGAR score of 5	8239	USP9X	ORPHA:480880
HP:0030927	1-minute APGAR score of 0	5631	PRPS1	ORPHA:423479
HP:0030928	1-minute APGAR score of 1	2261	FGFR3	OMIM:187600
HP:0030928	1-minute APGAR score of 1	8239	USP9X	ORPHA:480880
HP:0030935	Abnormality of intestinal smooth muscle morphology	5428	POLG	ORPHA:298
HP:0030935	Abnormality of intestinal smooth muscle morphology	1890	TYMP	ORPHA:298
HP:0030935	Abnormality of intestinal smooth muscle morphology	3980	LIG3	ORPHA:298
HP:0030935	Abnormality of intestinal smooth muscle morphology	50484	RRM2B	ORPHA:298
HP:0030939	Palpebral thickening	1806	DPYD	ORPHA:1675
HP:0030939	Palpebral thickening	673	BRAF	OMIM:115150
HP:0030939	Palpebral thickening	673	BRAF	OMIM:613707
HP:0030939	Palpebral thickening	673	BRAF	OMIM:613706
HP:0030939	Palpebral thickening	55617	TASP1	OMIM:618950
HP:0030939	Palpebral thickening	8260	NAA10	OMIM:300855
HP:0010500	Hyperextensibility of the knee	10717	AP4B1	ORPHA:280763
HP:0010500	Hyperextensibility of the knee	10717	AP4B1	OMIM:614066
HP:0010500	Hyperextensibility of the knee	9179	AP4M1	ORPHA:280763
HP:0010500	Hyperextensibility of the knee	11154	AP4S1	ORPHA:280763
HP:0010500	Hyperextensibility of the knee	23431	AP4E1	ORPHA:280763
HP:0010500	Hyperextensibility of the knee	6497	SKI	OMIM:182212
HP:0010500	Hyperextensibility of the knee	11285	B4GALT7	OMIM:130070
HP:0010500	Hyperextensibility of the knee	4123	MAN2C1	OMIM:619775
HP:0010500	Hyperextensibility of the knee	2200	FBN1	OMIM:154700
HP:0010500	Hyperextensibility of the knee	2892	GRIA3	ORPHA:364028
HP:0010500	Hyperextensibility of the knee	4998	ORC1	OMIM:224690
HP:0010500	Hyperextensibility of the knee	1278	COL1A2	OMIM:225320
HP:0010500	Hyperextensibility of the knee	1278	COL1A2	ORPHA:230851
HP:0010500	Hyperextensibility of the knee	3265	HRAS	ORPHA:2612
HP:0010500	Hyperextensibility of the knee	3845	KRAS	ORPHA:2612
HP:0010500	Hyperextensibility of the knee	4893	NRAS	ORPHA:2612
HP:0010500	Hyperextensibility of the knee	9469	CHST3	OMIM:143095
HP:0010500	Hyperextensibility of the knee	57479	PRR12	OMIM:619539
HP:0010500	Hyperextensibility of the knee	2006	ELN	ORPHA:90348
HP:0010500	Hyperextensibility of the knee	10516	FBLN5	ORPHA:90348
HP:0010500	Hyperextensibility of the knee	5832	ALDH18A1	ORPHA:90348
HP:0010500	Hyperextensibility of the knee	285590	SH3PXD2B	ORPHA:137834
HP:0010500	Hyperextensibility of the knee	1073	CFL2	OMIM:610687
HP:0010500	Hyperextensibility of the knee	8936	WASF1	OMIM:618707
HP:0010500	Hyperextensibility of the knee	64131	XYLT1	ORPHA:1425
HP:0010500	Hyperextensibility of the knee	124583	CANT1	ORPHA:1425
HP:0010500	Hyperextensibility of the knee	55790	CSGALNACT1	ORPHA:1425
HP:0010500	Hyperextensibility of the knee	1311	COMP	OMIM:177170
HP:0010500	Hyperextensibility of the knee	9150	CTDP1	OMIM:604168
HP:0010500	Hyperextensibility of the knee	9321	TRIP11	OMIM:184260
HP:0010500	Hyperextensibility of the knee	6536	SLC6A9	OMIM:617301
HP:0010500	Hyperextensibility of the knee	5728	PTEN	ORPHA:2969
HP:0010500	Hyperextensibility of the knee	2245	FGD1	ORPHA:915
HP:0010500	Hyperextensibility of the knee	81620	CDT1	OMIM:613804
HP:0010500	Hyperextensibility of the knee	57192	MCOLN1	ORPHA:578
HP:0010500	Hyperextensibility of the knee	203859	ANO5	ORPHA:206549
HP:0010500	Hyperextensibility of the knee	5159	PDGFRB	OMIM:601812
HP:0010500	Hyperextensibility of the knee	1289	COL5A1	OMIM:130000
HP:0010500	Hyperextensibility of the knee	4010	LMX1B	ORPHA:2614
HP:0010500	Hyperextensibility of the knee	2261	FGFR3	ORPHA:15
HP:0010500	Hyperextensibility of the knee	4210	MEFV	ORPHA:329967
HP:0010500	Hyperextensibility of the knee	7132	TNFRSF1A	ORPHA:329967
HP:0010502	Fibular bowing	5251	PHEX	OMIM:307800
HP:0010502	Fibular bowing	57003	CCDC47	OMIM:618268
HP:0010502	Fibular bowing	1594	CYP27B1	OMIM:264700
HP:0010502	Fibular bowing	1184	CLCN5	OMIM:300554
HP:0010502	Fibular bowing	1184	CLCN5	OMIM:300009
HP:0010502	Fibular bowing	142680	SLC34A3	OMIM:241530
HP:0010502	Fibular bowing	7421	VDR	OMIM:277440
HP:0010502	Fibular bowing	2261	FGFR3	ORPHA:85165
HP:0010502	Fibular bowing	4853	NOTCH2	OMIM:102500
HP:0010502	Fibular bowing	22858	CILK1	OMIM:612651
HP:0010502	Fibular bowing	120227	CYP2R1	OMIM:600081
HP:0010502	Fibular bowing	871	SERPINH1	OMIM:613848
HP:0010502	Fibular bowing	1302	COL11A2	ORPHA:1427
HP:0010503	Fibular duplication	64327	LMBR1	OMIM:135750
HP:0010503	Fibular duplication	64327	LMBR1	ORPHA:2378
HP:0010503	Fibular duplication	64327	LMBR1	OMIM:188740
HP:0010505	Limitation of movement at ankles	7337	UBE3A	ORPHA:98794
HP:0010505	Limitation of movement at ankles	4948	OCA2	ORPHA:98794
HP:0010505	Limitation of movement at ankles	4000	LMNA	ORPHA:740
HP:0010505	Limitation of movement at ankles	10269	ZMPSTE24	ORPHA:740
HP:0010505	Limitation of movement at ankles	2316	FLNA	ORPHA:1826
HP:0010505	Limitation of movement at ankles	6885	MAP3K7	ORPHA:1826
HP:0010505	Limitation of movement at ankles	4625	MYH7	ORPHA:437572
HP:0010505	Limitation of movement at ankles	123606	NIPA1	ORPHA:100988
HP:0010508	Metatarsus valgus	23483	TGDS	ORPHA:1388
HP:0010508	Metatarsus valgus	64374	SIL1	ORPHA:559
HP:0010508	Metatarsus valgus	51763	INPP5K	ORPHA:559
HP:0010508	Metatarsus valgus	8200	GDF5	ORPHA:93384
HP:0010508	Metatarsus valgus	658	BMPR1B	ORPHA:93384
HP:0010508	Metatarsus valgus	3339	HSPG2	ORPHA:800
HP:0010508	Metatarsus valgus	84892	POMGNT2	ORPHA:899
HP:0010508	Metatarsus valgus	148789	B3GALNT2	ORPHA:899
HP:0010508	Metatarsus valgus	79147	FKRP	ORPHA:899
HP:0010508	Metatarsus valgus	29954	POMT2	ORPHA:899
HP:0010508	Metatarsus valgus	9215	LARGE1	ORPHA:899
HP:0010508	Metatarsus valgus	1282	COL4A1	ORPHA:899
HP:0010508	Metatarsus valgus	729920	CRPPA	ORPHA:899
HP:0010508	Metatarsus valgus	10329	RXYLT1	ORPHA:899
HP:0010508	Metatarsus valgus	1605	DAG1	ORPHA:899
HP:0010508	Metatarsus valgus	11041	B4GAT1	ORPHA:899
HP:0010508	Metatarsus valgus	10585	POMT1	ORPHA:899
HP:0010508	Metatarsus valgus	84197	POMK	ORPHA:899
HP:0010508	Metatarsus valgus	2218	FKTN	ORPHA:899
HP:0010508	Metatarsus valgus	55624	POMGNT1	ORPHA:899
HP:0010508	Metatarsus valgus	5728	PTEN	ORPHA:744
HP:0010508	Metatarsus valgus	207	AKT1	ORPHA:744
HP:0010508	Metatarsus valgus	8260	NAA10	OMIM:300855
HP:0010509	Aplasia of the tarsal bones	64327	LMBR1	OMIM:200500
HP:0030948	Elevated gamma-glutamyltransferase level	7840	ALMS1	ORPHA:64
HP:0030948	Elevated gamma-glutamyltransferase level	3376	IARS1	OMIM:617093
HP:0030948	Elevated gamma-glutamyltransferase level	2819	GPD1	OMIM:614480
HP:0030948	Elevated gamma-glutamyltransferase level	5311	PKD2	OMIM:613095
HP:0030948	Elevated gamma-glutamyltransferase level	51473	DCDC2	OMIM:617394
HP:0030948	Elevated gamma-glutamyltransferase level	197258	FCSK	OMIM:618324
HP:0030948	Elevated gamma-glutamyltransferase level	79989	IFT56	OMIM:619534
HP:0030948	Elevated gamma-glutamyltransferase level	23019	CNOT1	OMIM:618500
HP:0030948	Elevated gamma-glutamyltransferase level	57128	LYRM4	OMIM:615595
HP:0030948	Elevated gamma-glutamyltransferase level	50619	DEF6	OMIM:619573
HP:0030948	Elevated gamma-glutamyltransferase level	11222	MRPL3	OMIM:614582
HP:0030948	Elevated gamma-glutamyltransferase level	125988	MICOS13	OMIM:618329
HP:0030948	Elevated gamma-glutamyltransferase level	3988	LIPA	OMIM:278000
HP:0030948	Elevated gamma-glutamyltransferase level	4358	MPV17	OMIM:256810
HP:0030948	Elevated gamma-glutamyltransferase level	5828	PEX2	OMIM:614866
HP:0030948	Elevated gamma-glutamyltransferase level	5314	PKHD1	ORPHA:53035
HP:0030948	Elevated gamma-glutamyltransferase level	5314	PKHD1	ORPHA:731
HP:0030948	Elevated gamma-glutamyltransferase level	123264	SLC51B	OMIM:619481
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	OMIM:605814
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	ORPHA:247598
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	OMIM:603471
HP:0030948	Elevated gamma-glutamyltransferase level	5244	ABCB4	OMIM:602347
HP:0030948	Elevated gamma-glutamyltransferase level	5244	ABCB4	ORPHA:69663
HP:0030948	Elevated gamma-glutamyltransferase level	197131	UBR1	OMIM:243800
HP:0030948	Elevated gamma-glutamyltransferase level	11277	TREX1	ORPHA:247691
HP:0030948	Elevated gamma-glutamyltransferase level	26276	VPS33B	OMIM:208085
HP:0030948	Elevated gamma-glutamyltransferase level	7504	XK	OMIM:300842
HP:0030948	Elevated gamma-glutamyltransferase level	6514	SLC2A2	OMIM:227810
HP:0030948	Elevated gamma-glutamyltransferase level	162	AP1B1	OMIM:242150
HP:0030948	Elevated gamma-glutamyltransferase level	4141	MARS1	OMIM:615486
HP:0030948	Elevated gamma-glutamyltransferase level	200931	SLC51A	OMIM:619484
HP:0030948	Elevated gamma-glutamyltransferase level	55340	GIMAP5	OMIM:619463
HP:0030948	Elevated gamma-glutamyltransferase level	113220	KIF12	OMIM:619662
HP:0030948	Elevated gamma-glutamyltransferase level	57511	COG6	OMIM:614576
HP:0030948	Elevated gamma-glutamyltransferase level	54931	TRMT10C	OMIM:616974
HP:0030948	Elevated gamma-glutamyltransferase level	2542	SLC37A4	OMIM:619525
HP:0030948	Elevated gamma-glutamyltransferase level	4645	MYO5B	OMIM:619868
HP:0030948	Elevated gamma-glutamyltransferase level	6513	SLC2A1	OMIM:608885
HP:0030948	Elevated gamma-glutamyltransferase level	617	BCS1L	OMIM:124000
HP:0030948	Elevated gamma-glutamyltransferase level	199221	DZIP1L	ORPHA:731
HP:0030949	Glomerular deposits	57122	NUP107	OMIM:616730
HP:0030949	Glomerular deposits	57122	NUP107	OMIM:618348
HP:0030949	Glomerular deposits	4312	MMP1	ORPHA:79408
HP:0030949	Glomerular deposits	1294	COL7A1	ORPHA:79408
HP:0030949	Glomerular deposits	10253	SPRY2	OMIM:616818
HP:0030949	Glomerular deposits	100147744	RNU7-1	OMIM:619487
HP:0030949	Glomerular deposits	9722	NOS1AP	OMIM:619155
HP:0030949	Glomerular deposits	4010	LMX1B	ORPHA:2614
HP:0030949	Glomerular deposits	2625	GATA3	OMIM:146255
HP:0030949	Glomerular deposits	51134	CEP83	OMIM:615862
HP:0030949	Glomerular deposits	8526	DGKE	OMIM:615008
HP:0030949	Glomerular deposits	3075	CFH	OMIM:609814
HP:0030949	Glomerular deposits	81494	CFHR5	OMIM:614809
HP:0030949	Glomerular deposits	396	ARHGDIA	OMIM:615244
HP:0030949	Glomerular deposits	1285	COL4A3	OMIM:203780
HP:0030949	Glomerular deposits	1285	COL4A3	OMIM:104200
HP:0030949	Glomerular deposits	1286	COL4A4	OMIM:203780
HP:0030949	Glomerular deposits	1287	COL4A5	OMIM:301050
HP:0030949	Glomerular deposits	2335	FN1	OMIM:601894
HP:0030949	Glomerular deposits	4311	MME	ORPHA:69063
HP:0030949	Glomerular deposits	977	CD151	OMIM:609057
HP:0030949	Glomerular deposits	57728	WDR19	OMIM:614377
HP:0030949	Glomerular deposits	57728	WDR19	OMIM:616307
HP:0010510	Hypermobility of toe joints	54872	PIGG	ORPHA:488635
HP:0010511	Long toe	4882	NPR2	OMIM:602875
HP:0010511	Long toe	4882	NPR2	OMIM:615923
HP:0010511	Long toe	84265	POLR3GL	OMIM:619234
HP:0010511	Long toe	10020	GNE	OMIM:269921
HP:0010511	Long toe	10020	GNE	ORPHA:3166
HP:0010511	Long toe	9158	FIBP	ORPHA:500095
HP:0010511	Long toe	9158	FIBP	OMIM:617107
HP:0010511	Long toe	579	NKX3-2	OMIM:613330
HP:0010511	Long toe	6660	SOX5	OMIM:616803
HP:0010511	Long toe	2770	GNAI1	OMIM:619854
HP:0010511	Long toe	8813	DPM1	ORPHA:79322
HP:0010511	Long toe	3756	KCNH1	OMIM:611816
HP:0010511	Long toe	3756	KCNH1	ORPHA:420561
HP:0010511	Long toe	5745	PTH1R	OMIM:600002
HP:0010511	Long toe	79759	ZNF668	OMIM:620194
HP:0010511	Long toe	91179	SCARF2	OMIM:600920
HP:0010511	Long toe	23522	KAT6B	OMIM:603736
HP:0010511	Long toe	5573	PRKAR1A	OMIM:101800
HP:0010511	Long toe	3782	KCNN3	OMIM:618658
HP:0010511	Long toe	2313	FLI1	ORPHA:2308
HP:0010511	Long toe	4297	KMT2A	OMIM:605130
HP:0010511	Long toe	56975	FAM20C	OMIM:259775
HP:0010511	Long toe	64132	XYLT2	OMIM:605822
HP:0010511	Long toe	11285	B4GALT7	ORPHA:75496
HP:0010511	Long toe	11285	B4GALT7	OMIM:130070
HP:0010511	Long toe	1376	CPT2	OMIM:608836
HP:0010511	Long toe	6611	SMS	ORPHA:3063
HP:0010511	Long toe	57459	GATAD2B	OMIM:615074
HP:0010511	Long toe	57459	GATAD2B	ORPHA:363686
HP:0010511	Long toe	10526	IPO8	OMIM:619472
HP:0010511	Long toe	10265	IRX5	OMIM:611174
HP:0010511	Long toe	51520	LARS1	OMIM:615438
HP:0010511	Long toe	11128	POLR3A	OMIM:264090
HP:0010511	Long toe	11128	POLR3A	ORPHA:3455
HP:0010511	Long toe	2200	FBN1	ORPHA:284979
HP:0010511	Long toe	50814	NSDHL	ORPHA:251383
HP:0010511	Long toe	1303	COL12A1	ORPHA:75840
HP:0010511	Long toe	1291	COL6A1	ORPHA:75840
HP:0010511	Long toe	1292	COL6A2	ORPHA:75840
HP:0010511	Long toe	1293	COL6A3	ORPHA:75840
HP:0010511	Long toe	23133	PHF8	OMIM:300263
HP:0010511	Long toe	9839	ZEB2	ORPHA:261537
HP:0010511	Long toe	9839	ZEB2	ORPHA:261552
HP:0010511	Long toe	22827	PUF60	ORPHA:508488
HP:0010511	Long toe	6595	SMARCA2	OMIM:601358
HP:0010511	Long toe	9496	TBX4	ORPHA:261279
HP:0010511	Long toe	4883	NPR3	OMIM:619543
HP:0010511	Long toe	60676	PAPPA2	OMIM:619489
HP:0010511	Long toe	388015	RTL1	ORPHA:254528
HP:0010511	Long toe	8788	DLK1	ORPHA:254528
HP:0010511	Long toe	55384	MEG3	ORPHA:254528
HP:0010511	Long toe	51111	KMT5B	OMIM:617788
HP:0010511	Long toe	9772	TMEM94	OMIM:618316
HP:0010512	Adrenal calcification	3988	LIPA	OMIM:278000
HP:0010512	Adrenal calcification	3988	LIPA	ORPHA:75233
HP:0010512	Adrenal calcification	3988	LIPA	ORPHA:75234
HP:0010512	Adrenal calcification	1583	CYP11A1	ORPHA:289548
HP:0010512	Adrenal calcification	5167	ENPP1	ORPHA:51608
HP:0010512	Adrenal calcification	368	ABCC6	ORPHA:51608
HP:0010514	Hyperpituitarism	340719	NANOS1	ORPHA:399808
HP:0010514	Hyperpituitarism	340719	NANOS1	ORPHA:399805
HP:0010514	Hyperpituitarism	668	FOXL2	OMIM:110100
HP:0010514	Hyperpituitarism	2492	FSHR	ORPHA:64739
HP:0010514	Hyperpituitarism	2492	FSHR	ORPHA:243
HP:0010514	Hyperpituitarism	2492	FSHR	OMIM:233300
HP:0010514	Hyperpituitarism	7490	WT1	ORPHA:347
HP:0010514	Hyperpituitarism	7490	WT1	ORPHA:251510
HP:0010514	Hyperpituitarism	3973	LHCGR	OMIM:238320
HP:0010514	Hyperpituitarism	29893	PSMC3IP	ORPHA:243
HP:0010514	Hyperpituitarism	171568	POLR3H	ORPHA:243
HP:0010514	Hyperpituitarism	2516	NR5A1	ORPHA:243
HP:0010514	Hyperpituitarism	2516	NR5A1	ORPHA:251510
HP:0010514	Hyperpituitarism	2516	NR5A1	ORPHA:399805
HP:0010514	Hyperpituitarism	125150	ZSWIM7	ORPHA:243
HP:0010514	Hyperpituitarism	9210	BMP15	ORPHA:243
HP:0010514	Hyperpituitarism	57122	NUP107	ORPHA:243
HP:0010514	Hyperpituitarism	23514	SPIDR	ORPHA:243
HP:0010514	Hyperpituitarism	56945	MRPS22	ORPHA:243
HP:0010514	Hyperpituitarism	646	BNC1	ORPHA:243
HP:0010514	Hyperpituitarism	2099	ESR1	ORPHA:785
HP:0010514	Hyperpituitarism	23395	LARS2	OMIM:615300
HP:0010514	Hyperpituitarism	2332	FMR1	OMIM:311360
HP:0010514	Hyperpituitarism	6736	SRY	ORPHA:1772
HP:0010514	Hyperpituitarism	6736	SRY	ORPHA:251510
HP:0010514	Hyperpituitarism	3295	HSD17B4	OMIM:233400
HP:0010514	Hyperpituitarism	6662	SOX9	ORPHA:251510
HP:0010514	Hyperpituitarism	6845	VAMP7	ORPHA:251510
HP:0010514	Hyperpituitarism	51741	WWOX	ORPHA:251510
HP:0010514	Hyperpituitarism	4214	MAP3K1	ORPHA:251510
HP:0010514	Hyperpituitarism	58524	DMRT3	ORPHA:251510
HP:0010514	Hyperpituitarism	57647	DHX37	ORPHA:251510
HP:0010514	Hyperpituitarism	23414	ZFPM2	ORPHA:251510
HP:0010514	Hyperpituitarism	190	NR0B1	ORPHA:251510
HP:0010514	Hyperpituitarism	2626	GATA4	ORPHA:251510
HP:0010514	Hyperpituitarism	5422	POLA1	ORPHA:163976
HP:0010514	Hyperpituitarism	56154	TEX15	ORPHA:399805
HP:0010514	Hyperpituitarism	6875	TAF4B	ORPHA:399805
HP:0010514	Hyperpituitarism	56155	TEX14	ORPHA:399805
HP:0010514	Hyperpituitarism	7516	XRCC2	ORPHA:399805
HP:0010514	Hyperpituitarism	254528	MEIOB	ORPHA:399805
HP:0010514	Hyperpituitarism	91057	CCDC34	ORPHA:399805
HP:0010514	Hyperpituitarism	402381	SOHLH1	ORPHA:399805
HP:0010514	Hyperpituitarism	317719	KLHL10	ORPHA:399805
HP:0010514	Hyperpituitarism	56159	TEX11	ORPHA:399805
HP:0010514	Hyperpituitarism	57697	FANCM	ORPHA:399805
HP:0010514	Hyperpituitarism	1080	CFTR	ORPHA:399805
HP:0010514	Hyperpituitarism	84225	ZMYND15	ORPHA:399805
HP:0010514	Hyperpituitarism	122402	TDRD9	ORPHA:399805
HP:0010514	Hyperpituitarism	154197	PNLDC1	ORPHA:399805
HP:0010514	Hyperpituitarism	93426	SYCE1	ORPHA:399805
HP:0010514	Hyperpituitarism	50511	SYCP3	ORPHA:399805
HP:0010514	Hyperpituitarism	1586	CYP17A1	ORPHA:90793
HP:0010514	Hyperpituitarism	50846	DHH	ORPHA:168563
HP:0010514	Hyperpituitarism	1027	CDKN1B	ORPHA:652
HP:0010514	Hyperpituitarism	1027	CDKN1B	OMIM:610755
HP:0010514	Hyperpituitarism	1027	CDKN1B	ORPHA:276152
HP:0010514	Hyperpituitarism	1026	CDKN1A	ORPHA:652
HP:0010514	Hyperpituitarism	1030	CDKN2B	ORPHA:652
HP:0010514	Hyperpituitarism	1031	CDKN2C	ORPHA:652
HP:0010514	Hyperpituitarism	3248	HPGD	ORPHA:2796
HP:0010514	Hyperpituitarism	6578	SLCO2A1	ORPHA:2796
HP:0010514	Hyperpituitarism	3767	KCNJ11	ORPHA:79644
HP:0010514	Hyperpituitarism	3479	IGF1	OMIM:608747
HP:0010514	Hyperpituitarism	5373	PMM2	ORPHA:79318
HP:0010514	Hyperpituitarism	55154	MSTO1	OMIM:617675
HP:0010514	Hyperpituitarism	55154	MSTO1	ORPHA:502423
HP:0010514	Hyperpituitarism	4221	MEN1	OMIM:131100
HP:0010514	Hyperpituitarism	4221	MEN1	ORPHA:99725
HP:0010514	Hyperpituitarism	2778	GNAS	OMIM:174800
HP:0010514	Hyperpituitarism	2778	GNAS	ORPHA:562
HP:0010514	Hyperpituitarism	5618	PRLR	OMIM:615555
HP:0010514	Hyperpituitarism	8314	BAP1	ORPHA:2495
HP:0010514	Hyperpituitarism	4771	NF2	ORPHA:2495
HP:0010514	Hyperpituitarism	6598	SMARCB1	ORPHA:2495
HP:0010514	Hyperpituitarism	5155	PDGFB	ORPHA:2495
HP:0010514	Hyperpituitarism	84231	TRAF7	ORPHA:2495
HP:0010514	Hyperpituitarism	6608	SMO	ORPHA:2495
HP:0010514	Hyperpituitarism	207	AKT1	ORPHA:2495
HP:0010514	Hyperpituitarism	5290	PIK3CA	ORPHA:2495
HP:0010514	Hyperpituitarism	7015	TERT	ORPHA:2495
HP:0010514	Hyperpituitarism	51684	SUFU	ORPHA:2495
HP:0010514	Hyperpituitarism	6605	SMARCE1	ORPHA:2495
HP:0010514	Hyperpituitarism	9049	AIP	OMIM:102200
HP:0010514	Hyperpituitarism	9049	AIP	ORPHA:99725
HP:0010514	Hyperpituitarism	7201	TRHR	ORPHA:99832
HP:0010514	Hyperpituitarism	83550	GPR101	OMIM:300942
HP:0010514	Hyperpituitarism	64072	CDH23	ORPHA:91347
HP:0010514	Hyperpituitarism	11128	POLR3A	ORPHA:3455
HP:0010514	Hyperpituitarism	5573	PRKAR1A	ORPHA:1359
HP:0010514	Hyperpituitarism	50940	PDE11A	ORPHA:1359
HP:0010514	Hyperpituitarism	7252	TSHB	ORPHA:90674
HP:0010514	Hyperpituitarism	1499	CTNNB1	ORPHA:54595
HP:0010514	Hyperpituitarism	673	BRAF	ORPHA:54595
HP:0010514	Hyperpituitarism	8468	FKBP6	OMIM:620103
HP:0010514	Hyperpituitarism	7555	CNBP	OMIM:602668
HP:0010514	Hyperpituitarism	3972	LHB	OMIM:228300
HP:0010514	Hyperpituitarism	254394	MCM9	OMIM:616185
HP:0010514	Hyperpituitarism	2074	ERCC6	OMIM:616946
HP:0010514	Hyperpituitarism	84733	CBX2	OMIM:613080
HP:0010514	Hyperpituitarism	4439	MSH5	OMIM:617442
HP:0010514	Hyperpituitarism	158401	SHOC1	OMIM:619949
HP:0010514	Hyperpituitarism	1583	CYP11A1	ORPHA:289548
HP:0010514	Hyperpituitarism	1583	CYP11A1	ORPHA:168558
HP:0010514	Hyperpituitarism	1583	CYP11A1	OMIM:613743
HP:0010514	Hyperpituitarism	3284	HSD3B2	ORPHA:90791
HP:0010514	Hyperpituitarism	4173	MCM4	OMIM:609981
HP:0010514	Hyperpituitarism	215	ABCD1	ORPHA:139399
HP:0010514	Hyperpituitarism	2245	FGD1	OMIM:305400
HP:0010514	Hyperpituitarism	286053	NSMCE2	OMIM:617253
HP:0010514	Hyperpituitarism	1730	DIAPH2	OMIM:300511
HP:0010514	Hyperpituitarism	2100	ESR2	OMIM:618187
HP:0010514	Hyperpituitarism	4438	MSH4	OMIM:619938
HP:0010514	Hyperpituitarism	8192	CLPP	OMIM:614129
HP:0010514	Hyperpituitarism	84515	MCM8	OMIM:612885
HP:0010514	Hyperpituitarism	1528	CYB5A	OMIM:250790
HP:0010514	Hyperpituitarism	1528	CYB5A	ORPHA:90796
HP:0010514	Hyperpituitarism	658	BMPR1B	OMIM:609441
HP:0010514	Hyperpituitarism	5447	POR	ORPHA:95699
HP:0010514	Hyperpituitarism	367	AR	OMIM:300068
HP:0010514	Hyperpituitarism	367	AR	ORPHA:90797
HP:0010514	Hyperpituitarism	367	AR	ORPHA:99429
HP:0010514	Hyperpituitarism	93953	GCNA	OMIM:301077
HP:0010514	Hyperpituitarism	2661	GDF9	OMIM:618014
HP:0010514	Hyperpituitarism	317761	C14orf39	OMIM:619203
HP:0010514	Hyperpituitarism	55012	PPP2R3C	OMIM:618419
HP:0010514	Hyperpituitarism	344018	FIGLA	OMIM:612310
HP:0010514	Hyperpituitarism	164045	HFM1	OMIM:615724
HP:0010514	Hyperpituitarism	84634	KISS1R	OMIM:176400
HP:0010514	Hyperpituitarism	10734	STAG3	OMIM:615723
HP:0010514	Hyperpituitarism	2488	FSHB	OMIM:229070
HP:0010515	Aplasia/Hypoplasia of the thymus	137814	NKX2-6	ORPHA:3384
HP:0010515	Aplasia/Hypoplasia of the thymus	23129	PLXND1	ORPHA:3384
HP:0010515	Aplasia/Hypoplasia of the thymus	57217	TTC7A	OMIM:243150
HP:0010515	Aplasia/Hypoplasia of the thymus	57217	TTC7A	ORPHA:436252
HP:0010515	Aplasia/Hypoplasia of the thymus	55388	MCM10	OMIM:619313
HP:0010515	Aplasia/Hypoplasia of the thymus	204	AK2	OMIM:267500
HP:0010515	Aplasia/Hypoplasia of the thymus	84876	ORAI1	OMIM:612782
HP:0010515	Aplasia/Hypoplasia of the thymus	6097	RORC	OMIM:616622
HP:0010515	Aplasia/Hypoplasia of the thymus	8425	LTBP4	OMIM:613177
HP:0010515	Aplasia/Hypoplasia of the thymus	92579	G6PC3	OMIM:612541
HP:0010515	Aplasia/Hypoplasia of the thymus	5297	PI4KA	ORPHA:436252
HP:0010515	Aplasia/Hypoplasia of the thymus	7454	WAS	ORPHA:906
HP:0010515	Aplasia/Hypoplasia of the thymus	7456	WIPF1	ORPHA:906
HP:0010515	Aplasia/Hypoplasia of the thymus	11128	POLR3A	OMIM:264090
HP:0010515	Aplasia/Hypoplasia of the thymus	5830	PEX5	OMIM:214110
HP:0010515	Aplasia/Hypoplasia of the thymus	1312	COMT	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	221037	JMJD1C	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	2812	GP1BB	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	6239	RREB1	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	6899	TBX1	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	6899	TBX1	OMIM:188400
HP:0010515	Aplasia/Hypoplasia of the thymus	7290	HIRA	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	9632	SEC24C	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	7353	UFD1	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	421	ARVCF	ORPHA:567
HP:0010515	Aplasia/Hypoplasia of the thymus	5896	RAG1	OMIM:603554
HP:0010515	Aplasia/Hypoplasia of the thymus	5897	RAG2	OMIM:603554
HP:0010515	Aplasia/Hypoplasia of the thymus	84172	POLR1B	ORPHA:861
HP:0010515	Aplasia/Hypoplasia of the thymus	9533	POLR1C	ORPHA:861
HP:0010515	Aplasia/Hypoplasia of the thymus	51082	POLR1D	ORPHA:861
HP:0010515	Aplasia/Hypoplasia of the thymus	6949	TCOF1	ORPHA:861
HP:0010515	Aplasia/Hypoplasia of the thymus	91754	NEK9	OMIM:617022
HP:0010515	Aplasia/Hypoplasia of the thymus	56160	NSMCE3	OMIM:617241
HP:0010515	Aplasia/Hypoplasia of the thymus	3561	IL2RG	OMIM:300400
HP:0010515	Aplasia/Hypoplasia of the thymus	8626	TP63	ORPHA:1896
HP:0010515	Aplasia/Hypoplasia of the thymus	9652	SKIC3	ORPHA:84064
HP:0010515	Aplasia/Hypoplasia of the thymus	6499	SKIC2	ORPHA:84064
HP:0010515	Aplasia/Hypoplasia of the thymus	341640	FREM2	OMIM:617666
HP:0010515	Aplasia/Hypoplasia of the thymus	472	ATM	OMIM:208900
HP:0010515	Aplasia/Hypoplasia of the thymus	100	ADA	OMIM:102700
HP:0010515	Aplasia/Hypoplasia of the thymus	6909	TBX2	OMIM:618223
HP:0010515	Aplasia/Hypoplasia of the thymus	8085	KMT2D	OMIM:620186
HP:0010515	Aplasia/Hypoplasia of the thymus	64421	DCLRE1C	OMIM:602450
HP:0010515	Aplasia/Hypoplasia of the thymus	55636	CHD7	OMIM:214800
HP:0010515	Aplasia/Hypoplasia of the thymus	118429	ANTXR2	ORPHA:2176
HP:0010516	Thymus hyperplasia	5728	PTEN	ORPHA:2969
HP:0010516	Thymus hyperplasia	5728	PTEN	ORPHA:744
HP:0010516	Thymus hyperplasia	199857	ALG14	OMIM:619036
HP:0010516	Thymus hyperplasia	4524	MTHFR	ORPHA:563609
HP:0010516	Thymus hyperplasia	57216	VANGL2	ORPHA:563609
HP:0010516	Thymus hyperplasia	207	AKT1	ORPHA:744
HP:0010517	Ectopic thymus tissue	7020	TFAP2A	OMIM:113620
HP:0010518	Thyroglossal cyst	4281	MID1	ORPHA:2745
HP:0010519	Increased fetal movement	340533	NEXMIF	OMIM:300912
HP:0010519	Increased fetal movement	2743	GLRB	OMIM:614619
HP:0030950	Pulmonary venous hypertension	84665	MYPN	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	2318	FLNC	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	7139	TNNT2	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	7137	TNNI3	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	10112	KIF20A	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	6521	SLC4A1	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	9780	PIEZO1	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	3783	KCNN4	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	2542	SLC37A4	ORPHA:79259
HP:0030951	Skeletal muscle fibrosis	10049	DNAJB6	ORPHA:34516
HP:0030951	Skeletal muscle fibrosis	51651	PTRH2	OMIM:616263
HP:0030951	Skeletal muscle fibrosis	51651	PTRH2	ORPHA:456312
HP:0030953	Conjunctival hyperemia	6472	SHMT2	OMIM:619121
HP:0030953	Conjunctival hyperemia	4137	MAPT	ORPHA:240071
HP:0030953	Conjunctival hyperemia	114548	NLRP3	OMIM:191900
HP:0030953	Conjunctival hyperemia	114548	NLRP3	OMIM:148200
HP:0030953	Conjunctival hyperemia	7132	TNFRSF1A	OMIM:142680
HP:0030953	Conjunctival hyperemia	164	AP1G1	OMIM:619548
HP:0000300	Oval face	54345	SOX18	OMIM:137940
HP:0000300	Oval face	8626	TP63	OMIM:106260
HP:0000300	Oval face	22827	PUF60	ORPHA:508488
HP:0000300	Oval face	25970	SH2B1	ORPHA:261222
HP:0000300	Oval face	54084	TSPEAR	OMIM:618180
HP:0000300	Oval face	253738	EBF3	OMIM:617330
HP:0000300	Oval face	23013	SPEN	OMIM:619312
HP:0000300	Oval face	104	ADARB1	OMIM:618862
HP:0000300	Oval face	6711	SPTBN1	OMIM:619475
HP:0000300	Oval face	1272	CNTN1	OMIM:612540
HP:0000300	Oval face	10525	HYOU1	OMIM:233600
HP:0000300	Oval face	8573	CASK	OMIM:300749
HP:0000300	Oval face	55770	EXOC2	OMIM:619306
HP:0000300	Oval face	4784	NFIX	ORPHA:420179
HP:0000300	Oval face	8604	SLC25A12	OMIM:612949
HP:0000300	Oval face	126792	B3GALT6	OMIM:271640
HP:0030955	Alcoholism	3064	HTT	ORPHA:399
HP:0030955	Alcoholism	6515	SLC2A3	ORPHA:399
HP:0030955	Alcoholism	6774	STAT3	ORPHA:520
HP:0030955	Alcoholism	5371	PML	ORPHA:520
HP:0030955	Alcoholism	5914	RARA	ORPHA:520
HP:0030955	Alcoholism	359948	IRF2BP2	ORPHA:520
HP:0030955	Alcoholism	81608	FIP1L1	ORPHA:520
HP:0030955	Alcoholism	4869	NPM1	ORPHA:520
HP:0030955	Alcoholism	5573	PRKAR1A	ORPHA:520
HP:0030955	Alcoholism	54880	BCOR	ORPHA:520
HP:0030955	Alcoholism	64859	NABP1	ORPHA:520
HP:0030955	Alcoholism	6777	STAT5B	ORPHA:520
HP:0030955	Alcoholism	4926	NUMA1	ORPHA:520
HP:0030955	Alcoholism	7704	ZBTB16	ORPHA:520
HP:0030955	Alcoholism	79718	TBL1XR1	ORPHA:520
HP:0030955	Alcoholism	8910	SGCE	OMIM:159900
HP:0030955	Alcoholism	23592	LEMD3	ORPHA:166119
HP:0030955	Alcoholism	50833	TAS2R16	OMIM:103780
HP:0030955	Alcoholism	3356	HTR2A	OMIM:103780
HP:0030955	Alcoholism	125	ADH1B	OMIM:103780
HP:0030955	Alcoholism	126	ADH1C	OMIM:103780
HP:0030955	Alcoholism	2555	GABRA2	OMIM:103780
HP:0030955	Alcoholism	7187	TRAF3	ORPHA:1930
HP:0030955	Alcoholism	81622	UNC93B1	ORPHA:1930
HP:0030955	Alcoholism	148022	TICAM1	ORPHA:1930
HP:0030955	Alcoholism	7098	TLR3	ORPHA:1930
HP:0030955	Alcoholism	29110	TBK1	ORPHA:1930
HP:0030956	Abnormality of cardiovascular system electrophysiology	1374	CPT1A	ORPHA:156
HP:0030956	Abnormality of cardiovascular system electrophysiology	26191	PTPN22	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	3106	HLA-B	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	3106	HLA-B	ORPHA:36426
HP:0030956	Abnormality of cardiovascular system electrophysiology	8974	P4HA2	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	282996	RBM20	OMIM:613172
HP:0030956	Abnormality of cardiovascular system electrophysiology	6804	STX1A	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	7461	CLIP2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	8468	FKBP6	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	5982	RFC2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	2969	GTF2I	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	3984	LIMK1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	9569	GTF2IRD1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	155382	VPS37D	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	155368	METTL27	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	114049	BUD23	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	7458	EIF4H	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	84163	GTF2IRD2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	9275	BCL7B	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	26608	TBL2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	653361	NCF1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	135886	TMEM270	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	51085	MLXIPL	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	9031	BAZ1B	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	2006	ELN	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	7454	WAS	ORPHA:906
HP:0030956	Abnormality of cardiovascular system electrophysiology	7456	WIPF1	ORPHA:906
HP:0030956	Abnormality of cardiovascular system electrophysiology	4040	LRP6	OMIM:610947
HP:0030956	Abnormality of cardiovascular system electrophysiology	5728	PTEN	ORPHA:744
HP:0030956	Abnormality of cardiovascular system electrophysiology	207	AKT1	ORPHA:744
HP:0030956	Abnormality of cardiovascular system electrophysiology	27068	PPA2	OMIM:617222
HP:0030956	Abnormality of cardiovascular system electrophysiology	131118	DNAJC19	OMIM:610198
HP:0030956	Abnormality of cardiovascular system electrophysiology	26154	ABCA12	ORPHA:457
HP:0030956	Abnormality of cardiovascular system electrophysiology	3949	LDLR	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	255738	PCSK9	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	26119	LDLRAP1	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	338	APOB	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	64240	ABCG5	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	64241	ABCG8	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	10320	IKZF1	ORPHA:36426
HP:0030956	Abnormality of cardiovascular system electrophysiology	23529	CLCF1	ORPHA:1545
HP:0030956	Abnormality of cardiovascular system electrophysiology	9244	CRLF1	ORPHA:1545
HP:0030956	Abnormality of cardiovascular system electrophysiology	2070	EYA4	OMIM:605362
HP:0030956	Abnormality of cardiovascular system electrophysiology	2771	GNAI2	OMIM:192605
HP:0030956	Abnormality of cardiovascular system electrophysiology	221496	LEMD2	OMIM:212500
HP:0030956	Abnormality of cardiovascular system electrophysiology	5167	ENPP1	ORPHA:758
HP:0030956	Abnormality of cardiovascular system electrophysiology	368	ABCC6	ORPHA:758
HP:0030956	Abnormality of cardiovascular system electrophysiology	28976	ACAD9	ORPHA:99901
HP:0030956	Abnormality of cardiovascular system electrophysiology	6444	SGCD	OMIM:606685
HP:0030956	Abnormality of cardiovascular system electrophysiology	8518	ELP1	OMIM:223900
HP:0030956	Abnormality of cardiovascular system electrophysiology	8518	ELP1	ORPHA:1764
HP:0030956	Abnormality of cardiovascular system electrophysiology	2328	FMO3	OMIM:602079
HP:0030956	Abnormality of cardiovascular system electrophysiology	137814	NKX2-6	ORPHA:3384
HP:0030956	Abnormality of cardiovascular system electrophysiology	23129	PLXND1	ORPHA:3384
HP:0030956	Abnormality of cardiovascular system electrophysiology	171023	ASXL1	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	54790	TET2	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	3815	KIT	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	6427	SRSF2	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	2203	FBP1	ORPHA:348
HP:0030956	Abnormality of cardiovascular system electrophysiology	2203	FBP1	OMIM:229700
HP:0030956	Abnormality of cardiovascular system electrophysiology	374879	ZNF699	OMIM:619488
HP:0030956	Abnormality of cardiovascular system electrophysiology	5498	PPOX	OMIM:176200
HP:0030956	Abnormality of cardiovascular system electrophysiology	5498	PPOX	ORPHA:79473
HP:0030956	Abnormality of cardiovascular system electrophysiology	3077	HFE	OMIM:176200
HP:0030956	Abnormality of cardiovascular system electrophysiology	3145	HMBS	OMIM:176000
HP:0030956	Abnormality of cardiovascular system electrophysiology	3145	HMBS	ORPHA:79276
HP:0030956	Abnormality of cardiovascular system electrophysiology	745	MYRF	OMIM:618280
HP:0030956	Abnormality of cardiovascular system electrophysiology	8029	CUBN	ORPHA:35858
HP:0030956	Abnormality of cardiovascular system electrophysiology	81693	AMN	ORPHA:35858
HP:0030956	Abnormality of cardiovascular system electrophysiology	65082	VPS33A	ORPHA:505248
HP:0030956	Abnormality of cardiovascular system electrophysiology	1439	CSF2RB	ORPHA:264675
HP:0030956	Abnormality of cardiovascular system electrophysiology	1438	CSF2RA	ORPHA:264675
HP:0030956	Abnormality of cardiovascular system electrophysiology	55739	NAXD	OMIM:618321
HP:0030956	Abnormality of cardiovascular system electrophysiology	9692	PRORP	OMIM:619737
HP:0030956	Abnormality of cardiovascular system electrophysiology	1889	ECE1	OMIM:613870
HP:0030956	Abnormality of cardiovascular system electrophysiology	1371	CPOX	OMIM:121300
HP:0030956	Abnormality of cardiovascular system electrophysiology	1371	CPOX	ORPHA:79273
HP:0030956	Abnormality of cardiovascular system electrophysiology	5837	PYGM	ORPHA:368
HP:0030956	Abnormality of cardiovascular system electrophysiology	3172	HNF4A	ORPHA:263455
HP:0030956	Abnormality of cardiovascular system electrophysiology	667	DST	OMIM:614653
HP:0030956	Abnormality of cardiovascular system electrophysiology	7253	TSHR	OMIM:609152
HP:0030956	Abnormality of cardiovascular system electrophysiology	7253	TSHR	OMIM:603373
HP:0030956	Abnormality of cardiovascular system electrophysiology	6736	SRY	ORPHA:1772
HP:0030956	Abnormality of cardiovascular system electrophysiology	8942	KYNU	ORPHA:79155
HP:0030956	Abnormality of cardiovascular system electrophysiology	6005	RHAG	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	6006	RHCE	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	6007	RHD	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0030956	Abnormality of cardiovascular system electrophysiology	6535	SLC6A8	OMIM:300352
HP:0030956	Abnormality of cardiovascular system electrophysiology	29925	GMPPB	OMIM:615351
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:94089
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:79443
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:79444
HP:0030956	Abnormality of cardiovascular system electrophysiology	8675	STX16	ORPHA:94089
HP:0030956	Abnormality of cardiovascular system electrophysiology	3033	HADH	ORPHA:71212
HP:0030956	Abnormality of cardiovascular system electrophysiology	2239	GPC4	ORPHA:373
HP:0030956	Abnormality of cardiovascular system electrophysiology	2719	GPC3	ORPHA:373
HP:0030956	Abnormality of cardiovascular system electrophysiology	5718	PSMD12	ORPHA:529962
HP:0030956	Abnormality of cardiovascular system electrophysiology	2186	BPTF	ORPHA:529962
HP:0030956	Abnormality of cardiovascular system electrophysiology	4702	NDUFA8	OMIM:619272
HP:0030956	Abnormality of cardiovascular system electrophysiology	10681	GNB5	OMIM:617173
HP:0030956	Abnormality of cardiovascular system electrophysiology	10681	GNB5	OMIM:617182
HP:0030956	Abnormality of cardiovascular system electrophysiology	10681	GNB5	ORPHA:542306
HP:0030956	Abnormality of cardiovascular system electrophysiology	5626	PROP1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	89884	LHX4	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	8022	LHX3	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	5449	POU1F1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	8820	HESX1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	25821	MTO1	OMIM:614702
HP:0030956	Abnormality of cardiovascular system electrophysiology	3909	LAMA3	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	3918	LAMC2	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	3914	LAMB3	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	7849	PAX8	OMIM:218700
HP:0030956	Abnormality of cardiovascular system electrophysiology	6341	SCO1	OMIM:619048
HP:0030956	Abnormality of cardiovascular system electrophysiology	51601	LIPT1	OMIM:616299
HP:0030956	Abnormality of cardiovascular system electrophysiology	30008	EFEMP2	OMIM:614437
HP:0030956	Abnormality of cardiovascular system electrophysiology	7252	TSHB	ORPHA:90674
HP:0030956	Abnormality of cardiovascular system electrophysiology	95	ACY1	OMIM:609924
HP:0030956	Abnormality of cardiovascular system electrophysiology	11274	USP18	OMIM:617397
HP:0030956	Abnormality of cardiovascular system electrophysiology	405753	DUOXA2	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	6528	SLC5A5	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	7038	TG	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	7173	TPO	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	389434	IYD	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	50506	DUOX2	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	1201	CLN3	ORPHA:228346
HP:0030956	Abnormality of cardiovascular system electrophysiology	22845	DOLK	OMIM:610768
HP:0030956	Abnormality of cardiovascular system electrophysiology	7386	UQCRFS1	OMIM:618775
HP:0030956	Abnormality of cardiovascular system electrophysiology	1892	ECHS1	OMIM:616277
HP:0030956	Abnormality of cardiovascular system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0030956	Abnormality of cardiovascular system electrophysiology	51117	COQ4	OMIM:616276
HP:0030956	Abnormality of cardiovascular system electrophysiology	57017	COQ9	OMIM:614654
HP:0030956	Abnormality of cardiovascular system electrophysiology	27429	HTRA2	OMIM:617248
HP:0030956	Abnormality of cardiovascular system electrophysiology	221927	BRAT1	OMIM:614498
HP:0030956	Abnormality of cardiovascular system electrophysiology	2752	GLUL	OMIM:610015
HP:0030956	Abnormality of cardiovascular system electrophysiology	1717	DHCR7	OMIM:270400
HP:0030956	Abnormality of cardiovascular system electrophysiology	8260	NAA10	OMIM:300855
HP:0030956	Abnormality of cardiovascular system electrophysiology	2879	GPX4	ORPHA:93317
HP:0030956	Abnormality of cardiovascular system electrophysiology	189	AGXT	OMIM:259900
HP:0030956	Abnormality of cardiovascular system electrophysiology	2717	GLA	ORPHA:324
HP:0030956	Abnormality of cardiovascular system electrophysiology	4313	MMP2	ORPHA:371428
HP:0030956	Abnormality of cardiovascular system electrophysiology	4323	MMP14	ORPHA:371428
HP:0030956	Abnormality of cardiovascular system electrophysiology	37	ACADVL	ORPHA:26793
HP:0030956	Abnormality of cardiovascular system electrophysiology	283446	MYO1H	OMIM:619482
HP:0030956	Abnormality of cardiovascular system electrophysiology	341208	HEPHL1	OMIM:261990
HP:0030956	Abnormality of cardiovascular system electrophysiology	84340	GFM2	OMIM:618397
HP:0030956	Abnormality of cardiovascular system electrophysiology	4878	NPPA	OMIM:615745
HP:0030956	Abnormality of cardiovascular system electrophysiology	2010	EMD	OMIM:310300
HP:0030956	Abnormality of cardiovascular system electrophysiology	3920	LAMP2	OMIM:300257
HP:0030956	Abnormality of cardiovascular system electrophysiology	10370	CITED2	ORPHA:99105
HP:0030956	Abnormality of cardiovascular system electrophysiology	7259	TSPYL1	ORPHA:168593
HP:0030956	Abnormality of cardiovascular system electrophysiology	6331	SCN5A	OMIM:601144
HP:0030956	Abnormality of cardiovascular system electrophysiology	6331	SCN5A	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	9997	SCO2	OMIM:604377
HP:0030956	Abnormality of cardiovascular system electrophysiology	23630	KCNE5	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10371	SEMA3A	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	54795	TRPM4	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10021	HCN4	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10021	HCN4	OMIM:163800
HP:0030956	Abnormality of cardiovascular system electrophysiology	3764	KCNJ8	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	3752	KCND3	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	5318	PKP2	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	5318	PKP2	OMIM:609040
HP:0030956	Abnormality of cardiovascular system electrophysiology	7871	SLMAP	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10060	ABCC9	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	29098	RANGRF	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6336	SCN10A	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10008	KCNE3	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10008	KCNE3	OMIM:613119
HP:0030956	Abnormality of cardiovascular system electrophysiology	55800	SCN3B	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10142	AKAP9	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	783	CACNB2	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6337	SCNN1A	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6327	SCN2B	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	781	CACNA2D1	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	775	CACNA1C	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6324	SCN1B	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	23171	GPD1L	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	3155	HMGCL	ORPHA:20
HP:0030956	Abnormality of cardiovascular system electrophysiology	4607	MYBPC3	OMIM:115197
HP:0030956	Abnormality of cardiovascular system electrophysiology	79989	IFT56	OMIM:619534
HP:0030956	Abnormality of cardiovascular system electrophysiology	9992	KCNE2	OMIM:613693
HP:0030956	Abnormality of cardiovascular system electrophysiology	54539	NDUFB11	OMIM:300952
HP:0030956	Abnormality of cardiovascular system electrophysiology	253017	TECRL	OMIM:614021
HP:0030956	Abnormality of cardiovascular system electrophysiology	805	CALM2	OMIM:616249
HP:0030956	Abnormality of cardiovascular system electrophysiology	1861	TOR1A	OMIM:618947
HP:0030956	Abnormality of cardiovascular system electrophysiology	801	CALM1	OMIM:616247
HP:0030956	Abnormality of cardiovascular system electrophysiology	801	CALM1	OMIM:614916
HP:0030956	Abnormality of cardiovascular system electrophysiology	788	SLC25A20	OMIM:212138
HP:0030956	Abnormality of cardiovascular system electrophysiology	708	C1QBP	OMIM:617713
HP:0030956	Abnormality of cardiovascular system electrophysiology	81031	SLC2A10	ORPHA:3342
HP:0030956	Abnormality of cardiovascular system electrophysiology	3757	KCNH2	OMIM:609620
HP:0030956	Abnormality of cardiovascular system electrophysiology	3757	KCNH2	OMIM:613688
HP:0030956	Abnormality of cardiovascular system electrophysiology	4634	MYL3	OMIM:608751
HP:0030956	Abnormality of cardiovascular system electrophysiology	54675	CRLS1	OMIM:620167
HP:0030956	Abnormality of cardiovascular system electrophysiology	55750	AGK	OMIM:212350
HP:0030956	Abnormality of cardiovascular system electrophysiology	859	CAV3	OMIM:611818
HP:0030956	Abnormality of cardiovascular system electrophysiology	57538	ALPK3	OMIM:618052
HP:0030956	Abnormality of cardiovascular system electrophysiology	2629	GBA1	ORPHA:77260
HP:0030956	Abnormality of cardiovascular system electrophysiology	4695	NDUFA2	OMIM:618235
HP:0030956	Abnormality of cardiovascular system electrophysiology	6182	MRPL12	OMIM:618951
HP:0030956	Abnormality of cardiovascular system electrophysiology	10345	TRDN	OMIM:615441
HP:0030956	Abnormality of cardiovascular system electrophysiology	70	ACTC1	OMIM:612098
HP:0030956	Abnormality of cardiovascular system electrophysiology	7046	TGFBR1	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	10526	IPO8	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	7048	TGFBR2	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	51086	TNNI3K	OMIM:616117
HP:0030956	Abnormality of cardiovascular system electrophysiology	3762	KCNJ5	OMIM:613485
HP:0030956	Abnormality of cardiovascular system electrophysiology	144245	ALG10B	OMIM:613688
HP:0030956	Abnormality of cardiovascular system electrophysiology	88	ACTN2	OMIM:612158
HP:0030956	Abnormality of cardiovascular system electrophysiology	10560	SLC19A2	ORPHA:49827
HP:0030956	Abnormality of cardiovascular system electrophysiology	25782	RAB3GAP2	OMIM:212720
HP:0030956	Abnormality of cardiovascular system electrophysiology	6440	SFTPC	ORPHA:70587
HP:0030956	Abnormality of cardiovascular system electrophysiology	21	ABCA3	ORPHA:70587
HP:0030956	Abnormality of cardiovascular system electrophysiology	6439	SFTPB	ORPHA:70587
HP:0030956	Abnormality of cardiovascular system electrophysiology	6508	SLC4A3	OMIM:620231
HP:0030956	Abnormality of cardiovascular system electrophysiology	2902	GRIN1	OMIM:619814
HP:0030956	Abnormality of cardiovascular system electrophysiology	5593	PRKG2	OMIM:619636
HP:0030956	Abnormality of cardiovascular system electrophysiology	4509	MT-ATP8	ORPHA:480
HP:0030956	Abnormality of cardiovascular system electrophysiology	5781	PTPN11	OMIM:151100
HP:0030956	Abnormality of cardiovascular system electrophysiology	50619	DEF6	OMIM:619573
HP:0030956	Abnormality of cardiovascular system electrophysiology	4511	MT-TC	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	650	BMP2	ORPHA:261295
HP:0030956	Abnormality of cardiovascular system electrophysiology	51103	NDUFAF1	OMIM:618234
HP:0030956	Abnormality of cardiovascular system electrophysiology	63931	MRPS14	OMIM:618378
HP:0030956	Abnormality of cardiovascular system electrophysiology	3714	JAG2	OMIM:619566
HP:0030956	Abnormality of cardiovascular system electrophysiology	7249	TSC2	OMIM:613254
HP:0030956	Abnormality of cardiovascular system electrophysiology	3458	IFNG	OMIM:613254
HP:0030956	Abnormality of cardiovascular system electrophysiology	96459	FNIP1	OMIM:619705
HP:0030956	Abnormality of cardiovascular system electrophysiology	7248	TSC1	OMIM:191100
HP:0030956	Abnormality of cardiovascular system electrophysiology	123263	MTFMT	OMIM:614947
HP:0030956	Abnormality of cardiovascular system electrophysiology	8557	TCAP	OMIM:607487
HP:0030956	Abnormality of cardiovascular system electrophysiology	84705	GTPBP3	ORPHA:444013
HP:0030956	Abnormality of cardiovascular system electrophysiology	6335	SCN9A	OMIM:133020
HP:0030956	Abnormality of cardiovascular system electrophysiology	291	SLC25A4	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	5428	POLG	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	56652	TWNK	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	11232	POLG2	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	50484	RRM2B	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	6390	SDHB	OMIM:115310
HP:0030956	Abnormality of cardiovascular system electrophysiology	6390	SDHB	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	6390	SDHB	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	3741	KCNA5	OMIM:612240
HP:0030956	Abnormality of cardiovascular system electrophysiology	7555	CNBP	OMIM:602668
HP:0030956	Abnormality of cardiovascular system electrophysiology	1837	DTNA	OMIM:604169
HP:0030956	Abnormality of cardiovascular system electrophysiology	3728	JUP	OMIM:601214
HP:0030956	Abnormality of cardiovascular system electrophysiology	57104	PNPLA2	ORPHA:565612
HP:0030956	Abnormality of cardiovascular system electrophysiology	1829	DSG2	OMIM:610193
HP:0030956	Abnormality of cardiovascular system electrophysiology	1824	DSC2	OMIM:610476
HP:0030956	Abnormality of cardiovascular system electrophysiology	6833	ABCC8	ORPHA:276575
HP:0030956	Abnormality of cardiovascular system electrophysiology	6391	SDHC	OMIM:605373
HP:0030956	Abnormality of cardiovascular system electrophysiology	6391	SDHC	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	3767	KCNJ11	ORPHA:276580
HP:0030956	Abnormality of cardiovascular system electrophysiology	4633	MYL2	OMIM:608758
HP:0030956	Abnormality of cardiovascular system electrophysiology	2642	GCGR	OMIM:619290
HP:0030956	Abnormality of cardiovascular system electrophysiology	57158	JPH2	OMIM:613873
HP:0030956	Abnormality of cardiovascular system electrophysiology	1000	CDH2	OMIM:618920
HP:0030956	Abnormality of cardiovascular system electrophysiology	7428	VHL	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	7428	VHL	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	7428	VHL	ORPHA:892
HP:0030956	Abnormality of cardiovascular system electrophysiology	5979	RET	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	5979	RET	OMIM:171400
HP:0030956	Abnormality of cardiovascular system electrophysiology	5979	RET	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	1788	DNMT3A	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	2034	EPAS1	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	6392	SDHD	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	6392	SDHD	OMIM:168000
HP:0030956	Abnormality of cardiovascular system electrophysiology	6392	SDHD	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	6392	SDHD	ORPHA:100093
HP:0030956	Abnormality of cardiovascular system electrophysiology	84133	ZNRF3	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	7157	TP53	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	5573	PRKAR1A	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	1499	CTNNB1	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	1029	CDKN2A	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	7015	TERT	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	55863	TMEM126B	OMIM:618250
HP:0030956	Abnormality of cardiovascular system electrophysiology	4635	MYL4	OMIM:617280
HP:0030956	Abnormality of cardiovascular system electrophysiology	2992	GYG1	ORPHA:263297
HP:0030956	Abnormality of cardiovascular system electrophysiology	64072	CDH23	ORPHA:91347
HP:0030956	Abnormality of cardiovascular system electrophysiology	7092	TLL1	ORPHA:99106
HP:0030956	Abnormality of cardiovascular system electrophysiology	7092	TLL1	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	57057	TBX20	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	4624	MYH6	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	1482	NKX2-5	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	2626	GATA4	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	2627	GATA6	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	1743	DLST	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4191	MDH2	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	6389	SDHA	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	23095	KIF1B	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	2271	FH	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	8402	SLC25A11	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	54949	SDHAF2	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	55654	TMEM127	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4763	NF1	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4149	MAX	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	7528	YY1	ORPHA:97279
HP:0030956	Abnormality of cardiovascular system electrophysiology	171019	ADAMTS19	OMIM:620067
HP:0030956	Abnormality of cardiovascular system electrophysiology	100134444	KCNJ18	ORPHA:79102
HP:0030956	Abnormality of cardiovascular system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0030956	Abnormality of cardiovascular system electrophysiology	779	CACNA1S	ORPHA:79102
HP:0030956	Abnormality of cardiovascular system electrophysiology	779	CACNA1S	OMIM:188580
HP:0030956	Abnormality of cardiovascular system electrophysiology	79188	TMEM43	OMIM:604400
HP:0030956	Abnormality of cardiovascular system electrophysiology	11149	BVES	OMIM:616812
HP:0030956	Abnormality of cardiovascular system electrophysiology	54800	KLHL24	OMIM:620236
HP:0030956	Abnormality of cardiovascular system electrophysiology	595	CCND1	ORPHA:892
HP:0030956	Abnormality of cardiovascular system electrophysiology	51778	MYOZ2	OMIM:613838
HP:0030956	Abnormality of cardiovascular system electrophysiology	23479	ISCU	OMIM:255125
HP:0030956	Abnormality of cardiovascular system electrophysiology	1616	DAXX	ORPHA:100075
HP:0030956	Abnormality of cardiovascular system electrophysiology	546	ATRX	ORPHA:100075
HP:0030956	Abnormality of cardiovascular system electrophysiology	6927	HNF1A	ORPHA:324575
HP:0030956	Abnormality of cardiovascular system electrophysiology	7351	UCP2	ORPHA:276556
HP:0030956	Abnormality of cardiovascular system electrophysiology	1756	DMD	OMIM:300376
HP:0030956	Abnormality of cardiovascular system electrophysiology	1756	DMD	OMIM:310200
HP:0030956	Abnormality of cardiovascular system electrophysiology	1621	DBH	ORPHA:230
HP:0030956	Abnormality of cardiovascular system electrophysiology	2395	FXN	OMIM:229300
HP:0030956	Abnormality of cardiovascular system electrophysiology	128989	TANGO2	ORPHA:480864
HP:0030956	Abnormality of cardiovascular system electrophysiology	8291	DYSF	ORPHA:268
HP:0030956	Abnormality of cardiovascular system electrophysiology	7276	TTR	ORPHA:85451
HP:0030956	Abnormality of cardiovascular system electrophysiology	1825	DSC3	OMIM:613102
HP:0030956	Abnormality of cardiovascular system electrophysiology	4758	NEU1	ORPHA:93400
HP:0030956	Abnormality of cardiovascular system electrophysiology	5894	RAF1	OMIM:615916
HP:0030956	Abnormality of cardiovascular system electrophysiology	7043	TGFB3	OMIM:107970
HP:0030956	Abnormality of cardiovascular system electrophysiology	84277	DNAJC30	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4539	MT-ND4L	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	1193	CLIC2	ORPHA:324410
HP:0030956	Abnormality of cardiovascular system electrophysiology	284252	KCTD1	OMIM:181270
HP:0030956	Abnormality of cardiovascular system electrophysiology	80308	FLAD1	OMIM:255100
HP:0030956	Abnormality of cardiovascular system electrophysiology	29119	CTNNA3	OMIM:615616
HP:0030956	Abnormality of cardiovascular system electrophysiology	1410	CRYAB	OMIM:615184
HP:0030956	Abnormality of cardiovascular system electrophysiology	9529	BAG5	OMIM:619747
HP:0030956	Abnormality of cardiovascular system electrophysiology	8048	CSRP3	OMIM:612124
HP:0030956	Abnormality of cardiovascular system electrophysiology	29967	LRP12	OMIM:164310
HP:0030956	Abnormality of cardiovascular system electrophysiology	4088	SMAD3	ORPHA:284984
HP:0030956	Abnormality of cardiovascular system electrophysiology	4088	SMAD3	OMIM:613795
HP:0030956	Abnormality of cardiovascular system electrophysiology	151648	SGO1	OMIM:616201
HP:0030956	Abnormality of cardiovascular system electrophysiology	23118	TAB2	OMIM:614980
HP:0030956	Abnormality of cardiovascular system electrophysiology	8076	MFAP5	OMIM:616166
HP:0030956	Abnormality of cardiovascular system electrophysiology	5664	PSEN2	OMIM:613697
HP:0030956	Abnormality of cardiovascular system electrophysiology	4519	MT-CYB	ORPHA:137675
HP:0030956	Abnormality of cardiovascular system electrophysiology	7168	TPM1	OMIM:611878
HP:0030956	Abnormality of cardiovascular system electrophysiology	7504	XK	OMIM:300842
HP:0030956	Abnormality of cardiovascular system electrophysiology	80206	FHOD3	OMIM:619402
HP:0030956	Abnormality of cardiovascular system electrophysiology	57798	GATAD1	OMIM:614672
HP:0030956	Abnormality of cardiovascular system electrophysiology	1760	DMPK	OMIM:160900
HP:0030956	Abnormality of cardiovascular system electrophysiology	353	APRT	ORPHA:976
HP:0030956	Abnormality of cardiovascular system electrophysiology	9631	NUP155	OMIM:615770
HP:0030956	Abnormality of cardiovascular system electrophysiology	5350	PLN	OMIM:613874
HP:0030956	Abnormality of cardiovascular system electrophysiology	140628	GATA5	OMIM:617912
HP:0030956	Abnormality of cardiovascular system electrophysiology	91624	NEXN	OMIM:613876
HP:0030956	Abnormality of cardiovascular system electrophysiology	7134	TNNC1	OMIM:613243
HP:0030956	Abnormality of cardiovascular system electrophysiology	284119	CAVIN1	OMIM:613327
HP:0030956	Abnormality of cardiovascular system electrophysiology	7273	TTN	OMIM:604145
HP:0030956	Abnormality of cardiovascular system electrophysiology	25792	CIZ1	ORPHA:420492
HP:0030956	Abnormality of cardiovascular system electrophysiology	1674	DES	ORPHA:98909
HP:0030956	Abnormality of cardiovascular system electrophysiology	1282	COL4A1	OMIM:611773
HP:0030956	Abnormality of cardiovascular system electrophysiology	84665	MYPN	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	2318	FLNC	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	7137	TNNI3	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	10112	KIF20A	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	2273	FHL1	ORPHA:98863
HP:0030956	Abnormality of cardiovascular system electrophysiology	23345	SYNE1	ORPHA:98853
HP:0030956	Abnormality of cardiovascular system electrophysiology	23224	SYNE2	ORPHA:98853
HP:0030956	Abnormality of cardiovascular system electrophysiology	3753	KCNE1	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6910	TBX5	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	9722	NOS1AP	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	3784	KCNQ1	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6330	SCN4B	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	808	CALM3	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6640	SNTA1	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	287	ANK2	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	2972	BRF1	ORPHA:444072
HP:0030956	Abnormality of cardiovascular system electrophysiology	80067	DCAF17	OMIM:241080
HP:0030956	Abnormality of cardiovascular system electrophysiology	80067	DCAF17	ORPHA:3464
HP:0030956	Abnormality of cardiovascular system electrophysiology	4204	MECP2	OMIM:312750
HP:0030956	Abnormality of cardiovascular system electrophysiology	773	CACNA1A	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	477	ATP1A2	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	478	ATP1A3	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	6261	RYR1	ORPHA:466650
HP:0030956	Abnormality of cardiovascular system electrophysiology	1188	CLCNKB	ORPHA:358
HP:0030956	Abnormality of cardiovascular system electrophysiology	6559	SLC12A3	ORPHA:358
HP:0030956	Abnormality of cardiovascular system electrophysiology	3759	KCNJ2	ORPHA:37553
HP:0030956	Abnormality of cardiovascular system electrophysiology	644096	SDHAF1	ORPHA:3208
HP:0030956	Abnormality of cardiovascular system electrophysiology	161742	SPRED1	ORPHA:137605
HP:0030956	Abnormality of cardiovascular system electrophysiology	10265	IRX5	OMIM:611174
HP:0030956	Abnormality of cardiovascular system electrophysiology	4784	NFIX	OMIM:602535
HP:0030956	Abnormality of cardiovascular system electrophysiology	26092	TOR1AIP1	OMIM:617072
HP:0030956	Abnormality of cardiovascular system electrophysiology	7716	VEZF1	OMIM:620247
HP:0030956	Abnormality of cardiovascular system electrophysiology	83475	DOHH	OMIM:620066
HP:0030956	Abnormality of cardiovascular system electrophysiology	1804	DPP6	OMIM:612956
HP:0030956	Abnormality of cardiovascular system electrophysiology	1832	DSP	OMIM:607450
HP:0030956	Abnormality of cardiovascular system electrophysiology	26235	FBXL4	OMIM:615471
HP:0030956	Abnormality of cardiovascular system electrophysiology	7148	TNXB	ORPHA:230839
HP:0030956	Abnormality of cardiovascular system electrophysiology	148738	HJV	OMIM:602390
HP:0030956	Abnormality of cardiovascular system electrophysiology	54968	TMEM70	ORPHA:1194
HP:0030956	Abnormality of cardiovascular system electrophysiology	54968	TMEM70	OMIM:614052
HP:0030956	Abnormality of cardiovascular system electrophysiology	23384	SPECC1L	ORPHA:1519
HP:0030956	Abnormality of cardiovascular system electrophysiology	1161	ERCC8	OMIM:216400
HP:0030956	Abnormality of cardiovascular system electrophysiology	30061	SLC40A1	OMIM:606069
HP:0030956	Abnormality of cardiovascular system electrophysiology	3908	LAMA2	ORPHA:258
HP:0030956	Abnormality of cardiovascular system electrophysiology	6926	TBX3	ORPHA:3138
HP:0030956	Abnormality of cardiovascular system electrophysiology	6926	TBX3	OMIM:181450
HP:0030956	Abnormality of cardiovascular system electrophysiology	63976	PRDM16	OMIM:615373
HP:0030956	Abnormality of cardiovascular system electrophysiology	3423	IDS	ORPHA:217085
HP:0030956	Abnormality of cardiovascular system electrophysiology	3423	IDS	ORPHA:217093
HP:0030956	Abnormality of cardiovascular system electrophysiology	2697	GJA1	ORPHA:2710
HP:0030956	Abnormality of cardiovascular system electrophysiology	2697	GJA1	OMIM:164200
HP:0030956	Abnormality of cardiovascular system electrophysiology	222663	SCUBE3	OMIM:619184
HP:0030956	Abnormality of cardiovascular system electrophysiology	7274	TTPA	ORPHA:96
HP:0030956	Abnormality of cardiovascular system electrophysiology	7156	TOP3A	OMIM:618098
HP:0030956	Abnormality of cardiovascular system electrophysiology	3265	HRAS	OMIM:218040
HP:0030956	Abnormality of cardiovascular system electrophysiology	3265	HRAS	ORPHA:2874
HP:0030956	Abnormality of cardiovascular system electrophysiology	3043	HBB	ORPHA:231214
HP:0030956	Abnormality of cardiovascular system electrophysiology	3043	HBB	ORPHA:231226
HP:0030956	Abnormality of cardiovascular system electrophysiology	5290	PIK3CA	ORPHA:60040
HP:0030956	Abnormality of cardiovascular system electrophysiology	5189	PEX1	ORPHA:3220
HP:0030956	Abnormality of cardiovascular system electrophysiology	5189	PEX1	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5190	PEX6	ORPHA:3220
HP:0030956	Abnormality of cardiovascular system electrophysiology	5190	PEX6	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	1493	CTLA4	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	3115	HLA-DPB1	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	5657	PRTN3	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	3113	HLA-DPA1	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	4556	MT-TE	ORPHA:225
HP:0030956	Abnormality of cardiovascular system electrophysiology	92667	MGME1	ORPHA:352447
HP:0030956	Abnormality of cardiovascular system electrophysiology	92667	MGME1	OMIM:615084
HP:0030956	Abnormality of cardiovascular system electrophysiology	4210	MEFV	ORPHA:342
HP:0030956	Abnormality of cardiovascular system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0030956	Abnormality of cardiovascular system electrophysiology	2934	GSN	ORPHA:85448
HP:0030956	Abnormality of cardiovascular system electrophysiology	6901	TAFAZZIN	OMIM:302060
HP:0030956	Abnormality of cardiovascular system electrophysiology	23175	LPIN1	ORPHA:99845
HP:0030956	Abnormality of cardiovascular system electrophysiology	34	ACADM	ORPHA:42
HP:0030956	Abnormality of cardiovascular system electrophysiology	654	BMP6	ORPHA:465508
HP:0030956	Abnormality of cardiovascular system electrophysiology	51567	TDP2	OMIM:616949
HP:0030956	Abnormality of cardiovascular system electrophysiology	2303	FOXC2	ORPHA:33001
HP:0030956	Abnormality of cardiovascular system electrophysiology	2303	FOXC2	OMIM:153400
HP:0030956	Abnormality of cardiovascular system electrophysiology	3339	HSPG2	ORPHA:800
HP:0030956	Abnormality of cardiovascular system electrophysiology	226	ALDOA	ORPHA:57
HP:0030956	Abnormality of cardiovascular system electrophysiology	26100	WIPI2	OMIM:618453
HP:0030956	Abnormality of cardiovascular system electrophysiology	54332	GDAP1	ORPHA:99944
HP:0030956	Abnormality of cardiovascular system electrophysiology	2074	ERCC6	OMIM:133540
HP:0030956	Abnormality of cardiovascular system electrophysiology	2767	GNA11	ORPHA:428
HP:0030956	Abnormality of cardiovascular system electrophysiology	846	CASR	ORPHA:428
HP:0030956	Abnormality of cardiovascular system electrophysiology	5095	PCCA	ORPHA:35
HP:0030956	Abnormality of cardiovascular system electrophysiology	5096	PCCB	ORPHA:35
HP:0030956	Abnormality of cardiovascular system electrophysiology	23586	RIGI	OMIM:616298
HP:0030956	Abnormality of cardiovascular system electrophysiology	267010	RNU12	OMIM:620208
HP:0030956	Abnormality of cardiovascular system electrophysiology	6663	SOX10	ORPHA:163746
HP:0030956	Abnormality of cardiovascular system electrophysiology	6329	SCN4A	ORPHA:682
HP:0030956	Abnormality of cardiovascular system electrophysiology	85366	MYLK2	OMIM:192600
HP:0030956	Abnormality of cardiovascular system electrophysiology	57167	SALL4	ORPHA:2307
HP:0030956	Abnormality of cardiovascular system electrophysiology	3032	HADHB	ORPHA:746
HP:0030956	Abnormality of cardiovascular system electrophysiology	3030	HADHA	ORPHA:746
HP:0030956	Abnormality of cardiovascular system electrophysiology	3030	HADHA	OMIM:609015
HP:0030956	Abnormality of cardiovascular system electrophysiology	673	BRAF	ORPHA:500
HP:0030956	Abnormality of cardiovascular system electrophysiology	2776	GNAQ	ORPHA:624
HP:0030956	Abnormality of cardiovascular system electrophysiology	6340	SCNN1G	ORPHA:171876
HP:0030956	Abnormality of cardiovascular system electrophysiology	6340	SCNN1G	ORPHA:526
HP:0030956	Abnormality of cardiovascular system electrophysiology	6338	SCNN1B	ORPHA:171876
HP:0030956	Abnormality of cardiovascular system electrophysiology	6338	SCNN1B	ORPHA:526
HP:0030956	Abnormality of cardiovascular system electrophysiology	55670	PEX26	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5824	PEX19	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5828	PEX2	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	8504	PEX3	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	9409	PEX16	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	8799	PEX11B	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5830	PEX5	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5193	PEX12	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5194	PEX13	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5195	PEX14	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5192	PEX10	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	9759	HDAC4	OMIM:600430
HP:0030956	Abnormality of cardiovascular system electrophysiology	22800	RRAS2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	867	CBL	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	8216	LZTR1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6016	RIT1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6237	RRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	22808	MRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	3845	KRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	200734	SPRED2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	4893	NRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6654	SOS1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6655	SOS2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	5922	RASA2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	5696	PSMB8	OMIM:256040
HP:0030956	Abnormality of cardiovascular system electrophysiology	4838	NODAL	OMIM:270100
HP:0030956	Abnormality of cardiovascular system electrophysiology	7169	TPM2	ORPHA:171881
HP:0030956	Abnormality of cardiovascular system electrophysiology	7170	TPM3	ORPHA:171881
HP:0030956	Abnormality of cardiovascular system electrophysiology	411	ARSB	OMIM:253200
HP:0030956	Abnormality of cardiovascular system electrophysiology	23395	LARS2	OMIM:617021
HP:0030956	Abnormality of cardiovascular system electrophysiology	5339	PLEC	ORPHA:254361
HP:0030956	Abnormality of cardiovascular system electrophysiology	128869	PIGU	OMIM:618590
HP:0030956	Abnormality of cardiovascular system electrophysiology	5500	PPP1CB	OMIM:617506
HP:0030956	Abnormality of cardiovascular system electrophysiology	56915	EXOSC5	OMIM:619576
HP:0030956	Abnormality of cardiovascular system electrophysiology	29954	POMT2	OMIM:613158
HP:0030956	Abnormality of cardiovascular system electrophysiology	29954	POMT2	ORPHA:206559
HP:0030956	Abnormality of cardiovascular system electrophysiology	8815	BANF1	OMIM:614008
HP:0030956	Abnormality of cardiovascular system electrophysiology	246243	RNASEH1	OMIM:616479
HP:0030956	Abnormality of cardiovascular system electrophysiology	523	ATP6V1A	OMIM:617403
HP:0030956	Abnormality of cardiovascular system electrophysiology	3777	KCNK3	OMIM:615344
HP:0030956	Abnormality of cardiovascular system electrophysiology	529	ATP6V1E1	OMIM:617402
HP:0030956	Abnormality of cardiovascular system electrophysiology	5663	PSEN1	OMIM:613694
HP:0030956	Abnormality of cardiovascular system electrophysiology	1349	COX7B	OMIM:309801
HP:0030956	Abnormality of cardiovascular system electrophysiology	3052	HCCS	OMIM:309801
HP:0030956	Abnormality of cardiovascular system electrophysiology	4221	MEN1	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1027	CDKN1B	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1026	CDKN1A	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1030	CDKN2B	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1031	CDKN2C	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	79577	CDC73	ORPHA:143
HP:0030956	Abnormality of cardiovascular system electrophysiology	79577	CDC73	ORPHA:99880
HP:0030956	Abnormality of cardiovascular system electrophysiology	5264	PHYH	ORPHA:773
HP:0030956	Abnormality of cardiovascular system electrophysiology	5191	PEX7	ORPHA:773
HP:0030956	Abnormality of cardiovascular system electrophysiology	6023	RMRP	ORPHA:175
HP:0030956	Abnormality of cardiovascular system electrophysiology	8318	CDC45	OMIM:617063
HP:0030956	Abnormality of cardiovascular system electrophysiology	4035	LRP1	ORPHA:79100
HP:0030956	Abnormality of cardiovascular system electrophysiology	11155	LDB3	ORPHA:98912
HP:0030956	Abnormality of cardiovascular system electrophysiology	56244	BTNL2	ORPHA:797
HP:0030956	Abnormality of cardiovascular system electrophysiology	3123	HLA-DRB1	ORPHA:797
HP:0030956	Abnormality of cardiovascular system electrophysiology	1376	CPT2	ORPHA:228308
HP:0030956	Abnormality of cardiovascular system electrophysiology	776	CACNA1D	OMIM:614896
HP:0030956	Abnormality of cardiovascular system electrophysiology	6840	SVIL	OMIM:619040
HP:0030956	Abnormality of cardiovascular system electrophysiology	4535	MT-ND1	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4535	MT-ND1	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4536	MT-ND2	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4537	MT-ND3	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4538	MT-ND4	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4538	MT-ND4	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4567	MT-TL1	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4567	MT-TL1	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4578	MT-TW	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4578	MT-TW	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4577	MT-TV	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4508	MT-ATP6	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4540	MT-ND5	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4540	MT-ND5	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4541	MT-ND6	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	4541	MT-ND6	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4566	MT-TK	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	57190	SELENON	ORPHA:97244
HP:0030956	Abnormality of cardiovascular system electrophysiology	58	ACTA1	ORPHA:97244
HP:0030956	Abnormality of cardiovascular system electrophysiology	4558	MT-TF	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4572	MT-TQ	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4512	MT-CO1	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4513	MT-CO2	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4514	MT-CO3	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4574	MT-TS1	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4575	MT-TS2	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	4564	MT-TH	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0030956	Abnormality of cardiovascular system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	ORPHA:300751
HP:0030956	Abnormality of cardiovascular system electrophysiology	2033	EP300	ORPHA:353284
HP:0030956	Abnormality of cardiovascular system electrophysiology	25915	NDUFAF3	ORPHA:70474
HP:0030956	Abnormality of cardiovascular system electrophysiology	4714	NDUFB8	ORPHA:70474
HP:0030956	Abnormality of cardiovascular system electrophysiology	4720	NDUFS2	ORPHA:70474
HP:0030956	Abnormality of cardiovascular system electrophysiology	6834	SURF1	ORPHA:70474
HP:0030956	Abnormality of cardiovascular system electrophysiology	2783	GNB2	OMIM:619464
HP:0030956	Abnormality of cardiovascular system electrophysiology	5236	PGM1	OMIM:614921
HP:0030956	Abnormality of cardiovascular system electrophysiology	442721	LMOD2	OMIM:619897
HP:0030956	Abnormality of cardiovascular system electrophysiology	845	CASQ2	OMIM:611938
HP:0030956	Abnormality of cardiovascular system electrophysiology	2260	FGFR1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2260	FGFR1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	10735	STAG2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	10735	STAG2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	8243	SMC1A	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	23007	PLCH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2581	GALC	ORPHA:206436
HP:0030956	Abnormality of cardiovascular system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030956	Abnormality of cardiovascular system electrophysiology	8567	MADD	OMIM:619004
HP:0030956	Abnormality of cardiovascular system electrophysiology	8567	MADD	OMIM:619005
HP:0030956	Abnormality of cardiovascular system electrophysiology	8929	PHOX2B	OMIM:209880
HP:0030956	Abnormality of cardiovascular system electrophysiology	2548	GAA	OMIM:232300
HP:0030956	Abnormality of cardiovascular system electrophysiology	4625	MYH7	OMIM:255160
HP:0030956	Abnormality of cardiovascular system electrophysiology	7139	TNNT2	OMIM:612422
HP:0030956	Abnormality of cardiovascular system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0030956	Abnormality of cardiovascular system electrophysiology	6262	RYR2	OMIM:604772
HP:0030956	Abnormality of cardiovascular system electrophysiology	2702	GJA5	OMIM:614049
HP:0000308	Microretrognathia	2737	GLI3	ORPHA:672
HP:0000308	Microretrognathia	22827	PUF60	ORPHA:508498
HP:0000308	Microretrognathia	22827	PUF60	ORPHA:508488
HP:0000308	Microretrognathia	57190	SELENON	ORPHA:324604
HP:0000308	Microretrognathia	4625	MYH7	ORPHA:324604
HP:0000308	Microretrognathia	7273	TTN	ORPHA:324604
HP:0000308	Microretrognathia	55906	ZC4H2	OMIM:301041
HP:0000308	Microretrognathia	6134	RPL10	OMIM:300998
HP:0000308	Microretrognathia	6134	RPL10	ORPHA:459070
HP:0000308	Microretrognathia	286053	NSMCE2	OMIM:617253
HP:0000308	Microretrognathia	4000	LMNA	OMIM:619793
HP:0000308	Microretrognathia	50814	NSDHL	ORPHA:251383
HP:0000308	Microretrognathia	9871	SEC24D	OMIM:616294
HP:0000308	Microretrognathia	374654	KIF7	OMIM:200990
HP:0000308	Microretrognathia	79868	ALG13	OMIM:300884
HP:0000308	Microretrognathia	5649	RELN	ORPHA:89844
HP:0000308	Microretrognathia	10300	KATNB1	ORPHA:89844
HP:0000308	Microretrognathia	54820	NDE1	ORPHA:89844
HP:0000308	Microretrognathia	55790	CSGALNACT1	OMIM:618870
HP:0000308	Microretrognathia	26224	FBXL3	OMIM:606220
HP:0000308	Microretrognathia	4784	NFIX	OMIM:602535
HP:0000308	Microretrognathia	84068	SLC10A7	OMIM:618363
HP:0000308	Microretrognathia	8260	NAA10	OMIM:300855
HP:0000308	Microretrognathia	8260	NAA10	ORPHA:276432
HP:0000308	Microretrognathia	113189	CHST14	ORPHA:2953
HP:0000308	Microretrognathia	113189	CHST14	OMIM:601776
HP:0000308	Microretrognathia	29940	DSE	ORPHA:2953
HP:0000308	Microretrognathia	9692	PRORP	OMIM:619737
HP:0000308	Microretrognathia	7994	KAT6A	ORPHA:457193
HP:0000308	Microretrognathia	7994	KAT6A	OMIM:616268
HP:0000308	Microretrognathia	90993	CREB3L1	OMIM:616229
HP:0000308	Microretrognathia	9325	TRIP4	OMIM:616866
HP:0000308	Microretrognathia	1717	DHCR7	OMIM:270400
HP:0000308	Microretrognathia	54968	TMEM70	OMIM:614052
HP:0000308	Microretrognathia	1501	CTNND2	ORPHA:281
HP:0000308	Microretrognathia	9037	SEMA5A	ORPHA:281
HP:0000308	Microretrognathia	23327	NEDD4L	OMIM:617201
HP:0000308	Microretrognathia	23545	ATP6V0A2	OMIM:278250
HP:0000308	Microretrognathia	9419	CRIPT	OMIM:615789
HP:0000308	Microretrognathia	25942	SIN3A	OMIM:613406
HP:0000308	Microretrognathia	26005	C2CD3	OMIM:615948
HP:0000308	Microretrognathia	26005	C2CD3	ORPHA:434179
HP:0000308	Microretrognathia	23594	ORC6	OMIM:613803
HP:0000308	Microretrognathia	59336	PRDM13	OMIM:619909
HP:0000308	Microretrognathia	10526	IPO8	OMIM:619472
HP:0000308	Microretrognathia	340419	RSPO2	OMIM:618021
HP:0000308	Microretrognathia	23443	SLC35A3	OMIM:615553
HP:0000308	Microretrognathia	9894	TELO2	ORPHA:488642
HP:0000308	Microretrognathia	79770	TXNDC15	OMIM:619879
HP:0000308	Microretrognathia	25914	RTTN	ORPHA:468631
HP:0000308	Microretrognathia	55165	CEP55	OMIM:236500
HP:0000308	Microretrognathia	79796	ALG9	ORPHA:79328
HP:0000308	Microretrognathia	10682	EBP	OMIM:300960
HP:0000308	Microretrognathia	23556	PIGN	ORPHA:280633
HP:0000308	Microretrognathia	2571	GAD1	OMIM:619124
HP:0000308	Microretrognathia	6872	TAF1	OMIM:300966
HP:0000308	Microretrognathia	55617	TASP1	OMIM:618950
HP:0000308	Microretrognathia	51305	KCNK9	OMIM:612292
HP:0000308	Microretrognathia	5075	PAX1	OMIM:615560
HP:0000308	Microretrognathia	8481	OFD1	OMIM:311200
HP:0000308	Microretrognathia	60482	SLC5A7	ORPHA:98914
HP:0000308	Microretrognathia	4649	MYO9A	ORPHA:98914
HP:0000308	Microretrognathia	1305	COL13A1	ORPHA:98914
HP:0000308	Microretrognathia	1103	CHAT	ORPHA:98914
HP:0000308	Microretrognathia	6576	SLC25A1	ORPHA:98914
HP:0000308	Microretrognathia	6843	VAMP1	ORPHA:98914
HP:0000308	Microretrognathia	375790	AGRN	ORPHA:98914
HP:0000308	Microretrognathia	127833	SYT2	ORPHA:98914
HP:0000308	Microretrognathia	6572	SLC18A3	ORPHA:98914
HP:0000308	Microretrognathia	6616	SNAP25	ORPHA:98914
HP:0000308	Microretrognathia	100506658	OCLN	OMIM:251290
HP:0000308	Microretrognathia	55717	WDR11	OMIM:620237
HP:0000308	Microretrognathia	124583	CANT1	OMIM:251450
HP:0000308	Microretrognathia	7846	TUBA1A	ORPHA:171680
HP:0000308	Microretrognathia	342035	GLDN	OMIM:617194
HP:0000308	Microretrognathia	153241	CEP120	OMIM:616300
HP:0000308	Microretrognathia	8565	YARS1	OMIM:619418
HP:0000308	Microretrognathia	8815	BANF1	OMIM:614008
HP:0000308	Microretrognathia	51082	POLR1D	OMIM:613717
HP:0000308	Microretrognathia	10262	SF3B4	ORPHA:1788
HP:0000308	Microretrognathia	9469	CHST3	OMIM:245600
HP:0000308	Microretrognathia	26229	B3GAT3	OMIM:245600
HP:0000308	Microretrognathia	1280	COL2A1	OMIM:200610
HP:0000308	Microretrognathia	11133	KPTN	ORPHA:397612
HP:0000308	Microretrognathia	9775	EIF4A3	OMIM:268305
HP:0000308	Microretrognathia	26173	INTS1	OMIM:618571
HP:0000308	Microretrognathia	51053	GMNN	OMIM:616835
HP:0000306	Abnormality of the chin	50964	SOST	OMIM:269500
HP:0000306	Abnormality of the chin	50964	SOST	ORPHA:3416
HP:0000306	Abnormality of the chin	50964	SOST	OMIM:122860
HP:0000306	Abnormality of the chin	5573	PRKAR1A	ORPHA:950
HP:0000306	Abnormality of the chin	5573	PRKAR1A	OMIM:101800
HP:0000306	Abnormality of the chin	5573	PRKAR1A	ORPHA:280651
HP:0000306	Abnormality of the chin	5144	PDE4D	ORPHA:950
HP:0000306	Abnormality of the chin	5144	PDE4D	OMIM:614613
HP:0000306	Abnormality of the chin	5144	PDE4D	ORPHA:439822
HP:0000306	Abnormality of the chin	5144	PDE4D	ORPHA:280651
HP:0000306	Abnormality of the chin	199857	ALG14	OMIM:619031
HP:0000306	Abnormality of the chin	8450	CUL4B	OMIM:300354
HP:0000306	Abnormality of the chin	2673	GFPT1	OMIM:608931
HP:0000306	Abnormality of the chin	1145	CHRNE	OMIM:608931
HP:0000306	Abnormality of the chin	6535	SLC6A8	OMIM:300352
HP:0000306	Abnormality of the chin	324	APC	ORPHA:261584
HP:0000306	Abnormality of the chin	8367	H4C5	OMIM:619950
HP:0000306	Abnormality of the chin	340533	NEXMIF	OMIM:300912
HP:0000306	Abnormality of the chin	9853	RUSC2	OMIM:617773
HP:0000306	Abnormality of the chin	2200	FBN1	ORPHA:1885
HP:0000306	Abnormality of the chin	54507	ADAMTSL4	ORPHA:1885
HP:0000306	Abnormality of the chin	23135	KDM6B	OMIM:618505
HP:0000306	Abnormality of the chin	5894	RAF1	OMIM:611554
HP:0000306	Abnormality of the chin	5894	RAF1	OMIM:611553
HP:0000306	Abnormality of the chin	55627	SMPD4	OMIM:618622
HP:0000306	Abnormality of the chin	3703	STT3A	OMIM:619714
HP:0000306	Abnormality of the chin	1788	DNMT3A	ORPHA:404443
HP:0000306	Abnormality of the chin	10084	PQBP1	ORPHA:93950
HP:0000306	Abnormality of the chin	10084	PQBP1	ORPHA:93945
HP:0000306	Abnormality of the chin	10084	PQBP1	OMIM:309500
HP:0000306	Abnormality of the chin	6840	SVIL	OMIM:619040
HP:0000306	Abnormality of the chin	4125	MAN2B1	ORPHA:309282
HP:0000306	Abnormality of the chin	4125	MAN2B1	OMIM:248500
HP:0000306	Abnormality of the chin	10479	SLC9A6	OMIM:300243
HP:0000306	Abnormality of the chin	10479	SLC9A6	ORPHA:85278
HP:0000306	Abnormality of the chin	374654	KIF7	OMIM:200990
HP:0000306	Abnormality of the chin	9578	CDC42BPB	OMIM:619841
HP:0000306	Abnormality of the chin	3020	H3-3A	OMIM:619720
HP:0000306	Abnormality of the chin	3021	H3-3B	OMIM:619721
HP:0000306	Abnormality of the chin	2314	FLII	ORPHA:819
HP:0000306	Abnormality of the chin	23096	IQSEC2	ORPHA:819
HP:0000306	Abnormality of the chin	10743	RAI1	ORPHA:819
HP:0000306	Abnormality of the chin	10743	RAI1	OMIM:182290
HP:0000306	Abnormality of the chin	10522	DEAF1	ORPHA:819
HP:0000306	Abnormality of the chin	10522	DEAF1	OMIM:615828
HP:0000306	Abnormality of the chin	55650	PIGV	OMIM:239300
HP:0000306	Abnormality of the chin	55650	PIGV	ORPHA:247262
HP:0000306	Abnormality of the chin	29957	SLC25A24	ORPHA:2963
HP:0000306	Abnormality of the chin	29957	SLC25A24	OMIM:612289
HP:0000306	Abnormality of the chin	284403	WDR62	OMIM:604317
HP:0000306	Abnormality of the chin	6197	RPS6KA3	OMIM:303600
HP:0000306	Abnormality of the chin	84992	PIGY	ORPHA:247262
HP:0000306	Abnormality of the chin	84720	PIGO	ORPHA:247262
HP:0000306	Abnormality of the chin	93210	PGAP3	ORPHA:247262
HP:0000306	Abnormality of the chin	284098	PIGW	ORPHA:247262
HP:0000306	Abnormality of the chin	27315	PGAP2	ORPHA:247262
HP:0000306	Abnormality of the chin	9487	PIGL	ORPHA:247262
HP:0000306	Abnormality of the chin	535	ATP6V0A1	OMIM:619971
HP:0000306	Abnormality of the chin	55154	MSTO1	OMIM:617675
HP:0000306	Abnormality of the chin	8913	CACNA1G	OMIM:618087
HP:0000306	Abnormality of the chin	3899	AFF3	OMIM:619297
HP:0000306	Abnormality of the chin	7040	TGFB1	OMIM:131300
HP:0000306	Abnormality of the chin	56172	ANKH	OMIM:123000
HP:0000306	Abnormality of the chin	81857	MED25	ORPHA:464738
HP:0000306	Abnormality of the chin	83550	GPR101	ORPHA:963
HP:0000306	Abnormality of the chin	9049	AIP	ORPHA:963
HP:0000306	Abnormality of the chin	9049	AIP	ORPHA:99725
HP:0000306	Abnormality of the chin	2697	GJA1	ORPHA:2710
HP:0000306	Abnormality of the chin	2697	GJA1	OMIM:218400
HP:0000306	Abnormality of the chin	10555	AGPAT2	OMIM:608594
HP:0000306	Abnormality of the chin	10555	AGPAT2	ORPHA:528
HP:0000306	Abnormality of the chin	1193	CLIC2	ORPHA:324410
HP:0000306	Abnormality of the chin	2720	GLB1	OMIM:253010
HP:0000306	Abnormality of the chin	3340	NDST1	OMIM:616116
HP:0000306	Abnormality of the chin	79813	EHMT1	OMIM:610253
HP:0000306	Abnormality of the chin	93627	TBCK	ORPHA:488632
HP:0000306	Abnormality of the chin	2783	GNB2	OMIM:619503
HP:0000306	Abnormality of the chin	55623	THUMPD1	OMIM:619989
HP:0000306	Abnormality of the chin	79158	GNPTAB	OMIM:252600
HP:0000306	Abnormality of the chin	175	AGA	ORPHA:93
HP:0000306	Abnormality of the chin	4247	MGAT2	OMIM:212066
HP:0000306	Abnormality of the chin	3425	IDUA	OMIM:607016
HP:0000306	Abnormality of the chin	54345	SOX18	OMIM:137940
HP:0000306	Abnormality of the chin	65109	UPF3B	OMIM:300676
HP:0000306	Abnormality of the chin	1182	CLCN3	OMIM:619512
HP:0000306	Abnormality of the chin	23512	SUZ12	OMIM:618786
HP:0000306	Abnormality of the chin	388662	SLC6A17	ORPHA:457212
HP:0000306	Abnormality of the chin	388662	SLC6A17	OMIM:616269
HP:0000306	Abnormality of the chin	3590	IL11RA	OMIM:614188
HP:0000306	Abnormality of the chin	3572	IL6ST	OMIM:619750
HP:0000306	Abnormality of the chin	55699	IARS2	OMIM:616007
HP:0000306	Abnormality of the chin	2332	FMR1	ORPHA:908
HP:0000306	Abnormality of the chin	2332	FMR1	ORPHA:449291
HP:0000306	Abnormality of the chin	2332	FMR1	OMIM:300624
HP:0000306	Abnormality of the chin	6134	RPL10	ORPHA:459070
HP:0000306	Abnormality of the chin	6134	RPL10	OMIM:300998
HP:0000306	Abnormality of the chin	6134	RPL10	ORPHA:435938
HP:0000306	Abnormality of the chin	6638	SNRPN	OMIM:105830
HP:0000306	Abnormality of the chin	6638	SNRPN	ORPHA:411515
HP:0000306	Abnormality of the chin	7337	UBE3A	OMIM:105830
HP:0000306	Abnormality of the chin	7337	UBE3A	ORPHA:98794
HP:0000306	Abnormality of the chin	7337	UBE3A	ORPHA:98795
HP:0000306	Abnormality of the chin	7337	UBE3A	ORPHA:411511
HP:0000306	Abnormality of the chin	7337	UBE3A	ORPHA:411515
HP:0000306	Abnormality of the chin	10907	TXNL4A	OMIM:608572
HP:0000306	Abnormality of the chin	55210	ATAD3A	ORPHA:496790
HP:0000306	Abnormality of the chin	55210	ATAD3A	OMIM:617183
HP:0000306	Abnormality of the chin	4089	SMAD4	OMIM:139210
HP:0000306	Abnormality of the chin	4089	SMAD4	ORPHA:2588
HP:0000306	Abnormality of the chin	56098	PCDHGC4	OMIM:619880
HP:0000306	Abnormality of the chin	4849	CNOT3	OMIM:618672
HP:0000306	Abnormality of the chin	4221	MEN1	ORPHA:99725
HP:0000306	Abnormality of the chin	55343	SLC35C1	ORPHA:99843
HP:0000306	Abnormality of the chin	3187	HNRNPH1	OMIM:620083
HP:0000306	Abnormality of the chin	5373	PMM2	ORPHA:79318
HP:0000306	Abnormality of the chin	5727	PTCH1	ORPHA:377
HP:0000306	Abnormality of the chin	5727	PTCH1	OMIM:109400
HP:0000306	Abnormality of the chin	8643	PTCH2	ORPHA:377
HP:0000306	Abnormality of the chin	51684	SUFU	ORPHA:377
HP:0000306	Abnormality of the chin	2239	GPC4	ORPHA:373
HP:0000306	Abnormality of the chin	2239	GPC4	OMIM:312870
HP:0000306	Abnormality of the chin	2719	GPC3	ORPHA:373
HP:0000306	Abnormality of the chin	2719	GPC3	OMIM:312870
HP:0000306	Abnormality of the chin	8242	KDM5C	OMIM:300534
HP:0000306	Abnormality of the chin	7355	SLC35A2	OMIM:300896
HP:0000306	Abnormality of the chin	54941	RNF125	OMIM:616260
HP:0000306	Abnormality of the chin	5077	PAX3	OMIM:193500
HP:0000306	Abnormality of the chin	5077	PAX3	OMIM:148820
HP:0000306	Abnormality of the chin	5077	PAX3	ORPHA:894
HP:0000306	Abnormality of the chin	10735	STAG2	ORPHA:521258
HP:0000306	Abnormality of the chin	2260	FGFR1	OMIM:166250
HP:0000306	Abnormality of the chin	2260	FGFR1	OMIM:101600
HP:0000306	Abnormality of the chin	6611	SMS	OMIM:309583
HP:0000306	Abnormality of the chin	6611	SMS	ORPHA:3063
HP:0000306	Abnormality of the chin	5781	PTPN11	OMIM:151100
HP:0000306	Abnormality of the chin	22907	DHX30	OMIM:617804
HP:0000306	Abnormality of the chin	8600	TNFSF11	OMIM:259710
HP:0000306	Abnormality of the chin	22827	PUF60	ORPHA:508498
HP:0000306	Abnormality of the chin	57190	SELENON	ORPHA:324604
HP:0000306	Abnormality of the chin	4625	MYH7	ORPHA:324604
HP:0000306	Abnormality of the chin	7273	TTN	ORPHA:324604
HP:0000306	Abnormality of the chin	8925	HERC1	OMIM:617011
HP:0000306	Abnormality of the chin	8925	HERC1	ORPHA:457359
HP:0000306	Abnormality of the chin	4038	LRP4	OMIM:614305
HP:0000306	Abnormality of the chin	11133	KPTN	OMIM:615637
HP:0000306	Abnormality of the chin	11133	KPTN	ORPHA:397612
HP:0000306	Abnormality of the chin	8924	HERC2	OMIM:615516
HP:0000306	Abnormality of the chin	546	ATRX	OMIM:301040
HP:0000306	Abnormality of the chin	4054	LTBP3	OMIM:601216
HP:0000306	Abnormality of the chin	4041	LRP5	ORPHA:3416
HP:0000306	Abnormality of the chin	4041	LRP5	ORPHA:2790
HP:0000306	Abnormality of the chin	23291	FBXW11	OMIM:618914
HP:0000306	Abnormality of the chin	176	ACAN	OMIM:612813
HP:0000306	Abnormality of the chin	176	ACAN	OMIM:165800
HP:0000306	Abnormality of the chin	176	ACAN	ORPHA:171866
HP:0000306	Abnormality of the chin	4952	OCRL	ORPHA:534
HP:0000306	Abnormality of the chin	9179	AP4M1	OMIM:612936
HP:0000306	Abnormality of the chin	56975	FAM20C	OMIM:259775
HP:0000306	Abnormality of the chin	54808	DYM	OMIM:223800
HP:0000306	Abnormality of the chin	90161	HS6ST2	OMIM:301025
HP:0000306	Abnormality of the chin	4948	OCA2	ORPHA:98794
HP:0000306	Abnormality of the chin	56915	EXOSC5	OMIM:619576
HP:0000306	Abnormality of the chin	84068	SLC10A7	OMIM:618363
HP:0000306	Abnormality of the chin	3756	KCNH1	OMIM:135500
HP:0000306	Abnormality of the chin	7965	AIMP2	OMIM:618006
HP:0000306	Abnormality of the chin	201163	FLCN	OMIM:610883
HP:0000306	Abnormality of the chin	92344	GORAB	OMIM:231070
HP:0000306	Abnormality of the chin	92344	GORAB	ORPHA:2078
HP:0000306	Abnormality of the chin	23389	MED13L	ORPHA:369891
HP:0000306	Abnormality of the chin	7136	TNNI2	OMIM:601680
HP:0000306	Abnormality of the chin	7703	PCGF2	OMIM:618371
HP:0000306	Abnormality of the chin	10524	KAT5	OMIM:619103
HP:0000306	Abnormality of the chin	54681	P4HTM	OMIM:618493
HP:0000306	Abnormality of the chin	92949	ADAMTSL1	ORPHA:521445
HP:0000306	Abnormality of the chin	54551	MAGEL2	OMIM:615547
HP:0000306	Abnormality of the chin	9791	PTDSS1	OMIM:151050
HP:0000306	Abnormality of the chin	9791	PTDSS1	ORPHA:2658
HP:0000306	Abnormality of the chin	2290	FOXG1	ORPHA:261144
HP:0000306	Abnormality of the chin	6424	SFRP4	OMIM:265900
HP:0000306	Abnormality of the chin	2892	GRIA3	ORPHA:364028
HP:0000306	Abnormality of the chin	26580	BSCL2	OMIM:269700
HP:0000306	Abnormality of the chin	26580	BSCL2	ORPHA:528
HP:0000306	Abnormality of the chin	10847	SRCAP	OMIM:619595
HP:0000306	Abnormality of the chin	7737	RNF113A	OMIM:300953
HP:0000306	Abnormality of the chin	2588	GALNS	OMIM:253000
HP:0000306	Abnormality of the chin	51002	TPRKB	OMIM:617731
HP:0000306	Abnormality of the chin	285590	SH3PXD2B	ORPHA:137834
HP:0000306	Abnormality of the chin	4810	NHS	ORPHA:627
HP:0000306	Abnormality of the chin	6928	HNF1B	ORPHA:93111
HP:0000306	Abnormality of the chin	4796	TONSL	ORPHA:93357
HP:0000306	Abnormality of the chin	4796	TONSL	OMIM:271510
HP:0000306	Abnormality of the chin	284252	KCTD1	OMIM:181270
HP:0000306	Abnormality of the chin	2893	GRIA4	OMIM:617864
HP:0000306	Abnormality of the chin	8292	COLQ	ORPHA:98915
HP:0000306	Abnormality of the chin	3913	LAMB2	ORPHA:98915
HP:0000306	Abnormality of the chin	4094	MAF	OMIM:601088
HP:0000306	Abnormality of the chin	5831	PYCR1	ORPHA:2078
HP:0000306	Abnormality of the chin	84081	NSRP1	OMIM:620001
HP:0000306	Abnormality of the chin	5468	PPARG	ORPHA:528
HP:0000306	Abnormality of the chin	284119	CAVIN1	ORPHA:528
HP:0000306	Abnormality of the chin	2353	FOS	ORPHA:528
HP:0000306	Abnormality of the chin	857	CAV1	ORPHA:528
HP:0000306	Abnormality of the chin	11141	IL1RAPL1	OMIM:300143
HP:0000306	Abnormality of the chin	23102	TBC1D2B	ORPHA:397973
HP:0000306	Abnormality of the chin	83452	RAB33B	OMIM:615222
HP:0000306	Abnormality of the chin	5567	PRKACB	OMIM:619143
HP:0000306	Abnormality of the chin	1460	CSNK2B	OMIM:618732
HP:0000306	Abnormality of the chin	84168	ANTXR1	ORPHA:2067
HP:0000306	Abnormality of the chin	57194	ATP10A	ORPHA:411515
HP:0000306	Abnormality of the chin	4035	LRP1	ORPHA:79100
HP:0000306	Abnormality of the chin	5293	PIK3CD	ORPHA:221139
HP:0000306	Abnormality of the chin	90417	KNSTRN	ORPHA:221139
HP:0000306	Abnormality of the chin	673	BRAF	OMIM:613706
HP:0000306	Abnormality of the chin	9488	PIGB	OMIM:618580
HP:0000306	Abnormality of the chin	7528	YY1	ORPHA:506358
HP:0000306	Abnormality of the chin	7528	YY1	OMIM:617557
HP:0000306	Abnormality of the chin	5898	RALA	OMIM:619311
HP:0000306	Abnormality of the chin	23013	SPEN	OMIM:619312
HP:0000306	Abnormality of the chin	23013	SPEN	ORPHA:1606
HP:0000306	Abnormality of the chin	51256	TBC1D7	OMIM:248000
HP:0000306	Abnormality of the chin	54517	PUS7	OMIM:618342
HP:0000306	Abnormality of the chin	2335	FN1	ORPHA:93315
HP:0000306	Abnormality of the chin	1280	COL2A1	ORPHA:93315
HP:0000306	Abnormality of the chin	10059	DNM1L	OMIM:614388
HP:0000306	Abnormality of the chin	9820	CUL7	ORPHA:2616
HP:0000306	Abnormality of the chin	9820	CUL7	OMIM:273750
HP:0000306	Abnormality of the chin	23363	OBSL1	ORPHA:2616
HP:0000306	Abnormality of the chin	23363	OBSL1	OMIM:612921
HP:0000306	Abnormality of the chin	83987	CCDC8	ORPHA:2616
HP:0000306	Abnormality of the chin	83987	CCDC8	OMIM:614205
HP:0000306	Abnormality of the chin	5457	POU4F1	ORPHA:314647
HP:0000306	Abnormality of the chin	23261	CAMTA1	ORPHA:314647
HP:0000306	Abnormality of the chin	23261	CAMTA1	OMIM:614756
HP:0000306	Abnormality of the chin	9839	ZEB2	OMIM:235730
HP:0000306	Abnormality of the chin	9839	ZEB2	ORPHA:261552
HP:0000306	Abnormality of the chin	9839	ZEB2	ORPHA:261537
HP:0000306	Abnormality of the chin	23126	POGZ	ORPHA:468678
HP:0000306	Abnormality of the chin	23126	POGZ	OMIM:616364
HP:0000306	Abnormality of the chin	55593	OTUD5	OMIM:301056
HP:0000306	Abnormality of the chin	128869	PIGU	OMIM:618590
HP:0000306	Abnormality of the chin	7707	ZNF148	OMIM:617260
HP:0000306	Abnormality of the chin	116931	MED12L	OMIM:618872
HP:0000306	Abnormality of the chin	613	BCR	ORPHA:261330
HP:0000306	Abnormality of the chin	1399	CRKL	ORPHA:261330
HP:0000306	Abnormality of the chin	5594	MAPK1	ORPHA:261330
HP:0000306	Abnormality of the chin	5594	MAPK1	OMIM:619087
HP:0000306	Abnormality of the chin	29998	BICRA	OMIM:619325
HP:0000306	Abnormality of the chin	283489	CHAMP1	OMIM:616579
HP:0000306	Abnormality of the chin	23431	AP4E1	OMIM:613744
HP:0000306	Abnormality of the chin	26128	KIFBP	ORPHA:66629
HP:0000306	Abnormality of the chin	57231	SNX14	ORPHA:397709
HP:0000306	Abnormality of the chin	4001	LMNB1	OMIM:619179
HP:0000306	Abnormality of the chin	23184	MESD	OMIM:618644
HP:0000306	Abnormality of the chin	1183	CLCN4	ORPHA:485350
HP:0000306	Abnormality of the chin	10015	PDCD6IP	OMIM:620047
HP:0000306	Abnormality of the chin	1000	CDH2	OMIM:618929
HP:0000306	Abnormality of the chin	2248	FGF3	ORPHA:90024
HP:0000306	Abnormality of the chin	1105	CHD1	OMIM:617682
HP:0000306	Abnormality of the chin	1105	CHD1	ORPHA:529965
HP:0000306	Abnormality of the chin	5159	PDGFRB	OMIM:616592
HP:0000306	Abnormality of the chin	22808	MRAS	OMIM:618499
HP:0000306	Abnormality of the chin	26040	SETBP1	OMIM:616078
HP:0000306	Abnormality of the chin	8985	PLOD3	OMIM:612394
HP:0000306	Abnormality of the chin	6023	RMRP	OMIM:607095
HP:0000306	Abnormality of the chin	200734	SPRED2	OMIM:619745
HP:0000306	Abnormality of the chin	25942	SIN3A	OMIM:613406
HP:0000306	Abnormality of the chin	3265	HRAS	OMIM:218040
HP:0000306	Abnormality of the chin	60	ACTB	OMIM:243310
HP:0000306	Abnormality of the chin	60	ACTB	ORPHA:2995
HP:0000306	Abnormality of the chin	9653	HS2ST1	OMIM:619194
HP:0000306	Abnormality of the chin	64840	PORCN	OMIM:305600
HP:0000306	Abnormality of the chin	64840	PORCN	ORPHA:2092
HP:0000306	Abnormality of the chin	55768	NGLY1	OMIM:615273
HP:0000306	Abnormality of the chin	71	ACTG1	OMIM:614583
HP:0000306	Abnormality of the chin	71	ACTG1	ORPHA:2995
HP:0000306	Abnormality of the chin	57680	CHD8	OMIM:615032
HP:0000306	Abnormality of the chin	6711	SPTBN1	OMIM:619475
HP:0000306	Abnormality of the chin	3643	INSR	ORPHA:508
HP:0000306	Abnormality of the chin	6804	STX1A	ORPHA:904
HP:0000306	Abnormality of the chin	7461	CLIP2	ORPHA:904
HP:0000306	Abnormality of the chin	84277	DNAJC30	ORPHA:904
HP:0000306	Abnormality of the chin	8468	FKBP6	ORPHA:904
HP:0000306	Abnormality of the chin	5982	RFC2	ORPHA:904
HP:0000306	Abnormality of the chin	2969	GTF2I	ORPHA:904
HP:0000306	Abnormality of the chin	3984	LIMK1	ORPHA:904
HP:0000306	Abnormality of the chin	9569	GTF2IRD1	ORPHA:904
HP:0000306	Abnormality of the chin	155382	VPS37D	ORPHA:904
HP:0000306	Abnormality of the chin	155368	METTL27	ORPHA:904
HP:0000306	Abnormality of the chin	114049	BUD23	ORPHA:904
HP:0000306	Abnormality of the chin	7458	EIF4H	ORPHA:904
HP:0000306	Abnormality of the chin	84163	GTF2IRD2	ORPHA:904
HP:0000306	Abnormality of the chin	9275	BCL7B	ORPHA:904
HP:0000306	Abnormality of the chin	26608	TBL2	ORPHA:904
HP:0000306	Abnormality of the chin	653361	NCF1	ORPHA:904
HP:0000306	Abnormality of the chin	135886	TMEM270	ORPHA:904
HP:0000306	Abnormality of the chin	51085	MLXIPL	ORPHA:904
HP:0000306	Abnormality of the chin	9031	BAZ1B	ORPHA:904
HP:0000306	Abnormality of the chin	2006	ELN	ORPHA:904
HP:0000306	Abnormality of the chin	116115	ZNF526	OMIM:619877
HP:0000306	Abnormality of the chin	5593	PRKG2	OMIM:619636
HP:0000306	Abnormality of the chin	5590	PRKCZ	ORPHA:1606
HP:0000306	Abnormality of the chin	2563	GABRD	ORPHA:1606
HP:0000306	Abnormality of the chin	8510	MMP23B	ORPHA:1606
HP:0000306	Abnormality of the chin	7798	LUZP1	ORPHA:1606
HP:0000306	Abnormality of the chin	6497	SKI	ORPHA:1606
HP:0000306	Abnormality of the chin	10630	PDPN	ORPHA:1606
HP:0000306	Abnormality of the chin	3339	HSPG2	ORPHA:1606
HP:0000306	Abnormality of the chin	10277	UBE4B	ORPHA:1606
HP:0000306	Abnormality of the chin	8514	KCNAB2	ORPHA:1606
HP:0000306	Abnormality of the chin	473	RERE	ORPHA:1606
HP:0000306	Abnormality of the chin	63976	PRDM16	ORPHA:1606
HP:0000306	Abnormality of the chin	54897	CASZ1	ORPHA:1606
HP:0000306	Abnormality of the chin	4784	NFIX	ORPHA:420179
HP:0000306	Abnormality of the chin	11128	POLR3A	OMIM:264090
HP:0000306	Abnormality of the chin	11128	POLR3A	ORPHA:3455
HP:0000306	Abnormality of the chin	8405	SPOP	OMIM:618828
HP:0000306	Abnormality of the chin	8405	SPOP	OMIM:618829
HP:0000306	Abnormality of the chin	283209	PGM2L1	OMIM:620191
HP:0000306	Abnormality of the chin	79228	THOC6	ORPHA:363444
HP:0000306	Abnormality of the chin	8567	MADD	OMIM:619005
HP:0000306	Abnormality of the chin	29123	ANKRD11	ORPHA:261250
HP:0000306	Abnormality of the chin	29123	ANKRD11	OMIM:148050
HP:0000306	Abnormality of the chin	7358	UGDH	OMIM:618792
HP:0000306	Abnormality of the chin	91875	TTC5	OMIM:619244
HP:0000306	Abnormality of the chin	3832	KIF11	ORPHA:2526
HP:0000306	Abnormality of the chin	2542	SLC37A4	OMIM:619525
HP:0000306	Abnormality of the chin	7025	NR2F1	OMIM:615722
HP:0000306	Abnormality of the chin	9772	TMEM94	OMIM:618316
HP:0000306	Abnormality of the chin	6901	TAFAZZIN	OMIM:302060
HP:0000306	Abnormality of the chin	118924	FRA10AC1	OMIM:620113
HP:0000306	Abnormality of the chin	9320	TRIP12	OMIM:617752
HP:0000306	Abnormality of the chin	51780	KDM3B	OMIM:618846
HP:0000306	Abnormality of the chin	7994	KAT6A	OMIM:616268
HP:0000306	Abnormality of the chin	85378	TUBGCP6	ORPHA:2518
HP:0000306	Abnormality of the chin	27229	TUBGCP4	ORPHA:2518
HP:0000306	Abnormality of the chin	10733	PLK4	ORPHA:2518
HP:0000306	Abnormality of the chin	1146	CHRNG	ORPHA:2990
HP:0000306	Abnormality of the chin	4853	NOTCH2	OMIM:610205
HP:0000306	Abnormality of the chin	1795	DOCK3	OMIM:618292
HP:0000306	Abnormality of the chin	57647	DHX37	OMIM:618731
HP:0000306	Abnormality of the chin	2702	GJA5	OMIM:612474
HP:0000306	Abnormality of the chin	2703	GJA8	OMIM:612474
HP:0000306	Abnormality of the chin	523	ATP6V1A	OMIM:617403
HP:0000306	Abnormality of the chin	529	ATP6V1E1	OMIM:617402
HP:0000306	Abnormality of the chin	4212	MEIS2	ORPHA:261190
HP:0000306	Abnormality of the chin	25886	POC1A	OMIM:614813
HP:0000306	Abnormality of the chin	3720	JARID2	OMIM:620098
HP:0000306	Abnormality of the chin	865	CBFB	OMIM:620099
HP:0000306	Abnormality of the chin	11253	MAN1B1	ORPHA:397941
HP:0000306	Abnormality of the chin	253738	EBF3	OMIM:617330
HP:0000306	Abnormality of the chin	94005	PIGS	OMIM:618143
HP:0000306	Abnormality of the chin	8558	CDK10	OMIM:617694
HP:0000306	Abnormality of the chin	7204	TRIO	OMIM:618825
HP:0000306	Abnormality of the chin	7204	TRIO	OMIM:617061
HP:0000306	Abnormality of the chin	1161	ERCC8	ORPHA:90324
HP:0000306	Abnormality of the chin	1161	ERCC8	ORPHA:90321
HP:0000306	Abnormality of the chin	1161	ERCC8	ORPHA:90322
HP:0000306	Abnormality of the chin	2074	ERCC6	ORPHA:90324
HP:0000306	Abnormality of the chin	2074	ERCC6	ORPHA:90321
HP:0000306	Abnormality of the chin	2074	ERCC6	ORPHA:90322
HP:0000306	Abnormality of the chin	100151683	RNU4ATAC	OMIM:210710
HP:0000306	Abnormality of the chin	9841	ZBTB24	OMIM:614069
HP:0000306	Abnormality of the chin	23394	ADNP	OMIM:615873
HP:0000306	Abnormality of the chin	6885	MAP3K7	OMIM:617137
HP:0000306	Abnormality of the chin	6418	SET	OMIM:618106
HP:0000306	Abnormality of the chin	4897	NRCAM	OMIM:619833
HP:0000306	Abnormality of the chin	8854	ALDH1A2	OMIM:620025
HP:0000306	Abnormality of the chin	4774	NFIA	OMIM:613735
HP:0000306	Abnormality of the chin	85358	SHANK3	OMIM:606232
HP:0000306	Abnormality of the chin	256297	PTF1A	OMIM:609069
HP:0000306	Abnormality of the chin	256297	PTF1A	ORPHA:65288
HP:0000306	Abnormality of the chin	2072	ERCC4	ORPHA:90321
HP:0000306	Abnormality of the chin	55719	SLF2	OMIM:620184
HP:0000306	Abnormality of the chin	2067	ERCC1	ORPHA:90322
HP:0000306	Abnormality of the chin	2887	GRB10	ORPHA:96182
HP:0000306	Abnormality of the chin	4000	LMNA	ORPHA:740
HP:0000306	Abnormality of the chin	4000	LMNA	OMIM:212112
HP:0000306	Abnormality of the chin	10269	ZMPSTE24	ORPHA:740
HP:0000306	Abnormality of the chin	3481	IGF2	ORPHA:231140
HP:0000306	Abnormality of the chin	283120	H19	ORPHA:231140
HP:0000306	Abnormality of the chin	8905	AP1S2	ORPHA:85329
HP:0000306	Abnormality of the chin	1836	SLC26A2	OMIM:222600
HP:0000306	Abnormality of the chin	1349	COX7B	OMIM:300887
HP:0000306	Abnormality of the chin	60676	PAPPA2	OMIM:619489
HP:0000306	Abnormality of the chin	80816	ASXL3	OMIM:615485
HP:0000306	Abnormality of the chin	83737	ITCH	OMIM:613385
HP:0000306	Abnormality of the chin	83737	ITCH	ORPHA:228426
HP:0000306	Abnormality of the chin	5591	PRKDC	OMIM:615966
HP:0000306	Abnormality of the chin	25973	PARS2	OMIM:618437
HP:0000306	Abnormality of the chin	55777	MBD5	OMIM:156200
HP:0000306	Abnormality of the chin	5295	PIK3R1	OMIM:269880
HP:0000306	Abnormality of the chin	2316	FLNA	OMIM:305620
HP:0000306	Abnormality of the chin	1896	EDA	OMIM:305100
HP:0000306	Abnormality of the chin	79868	ALG13	ORPHA:324422
HP:0000306	Abnormality of the chin	54888	NSUN2	OMIM:611091
HP:0000306	Abnormality of the chin	57492	ARID1B	OMIM:135900
HP:0000306	Abnormality of the chin	7518	XRCC4	OMIM:616541
HP:0000306	Abnormality of the chin	1298	COL9A2	OMIM:614284
HP:0000306	Abnormality of the chin	7468	NSD2	OMIM:619695
HP:0000306	Abnormality of the chin	388753	COA6	OMIM:616501
HP:0000306	Abnormality of the chin	816	CAMK2B	OMIM:617799
HP:0000306	Abnormality of the chin	4724	NDUFS4	OMIM:252010
HP:0000306	Abnormality of the chin	9968	MED12	ORPHA:93932
HP:0000306	Abnormality of the chin	340665	CYP26C1	ORPHA:398189
HP:0000306	Abnormality of the chin	79791	FBXO31	OMIM:615979
HP:0000306	Abnormality of the chin	222663	SCUBE3	OMIM:619184
HP:0000306	Abnormality of the chin	129285	PPP1R21	OMIM:619383
HP:0000306	Abnormality of the chin	9896	FIG4	ORPHA:3472
HP:0000306	Abnormality of the chin	55697	VAC14	ORPHA:3472
HP:0000306	Abnormality of the chin	11342	RNF13	OMIM:618379
HP:0000306	Abnormality of the chin	11342	RNF13	ORPHA:544503
HP:0000306	Abnormality of the chin	4921	DDR2	OMIM:618175
HP:0000306	Abnormality of the chin	23036	ZNF292	OMIM:619188
HP:0000306	Abnormality of the chin	25	ABL1	OMIM:617602
HP:0000306	Abnormality of the chin	667	DST	OMIM:614653
HP:0000306	Abnormality of the chin	2475	MTOR	ORPHA:457485
HP:0000306	Abnormality of the chin	2475	MTOR	OMIM:616638
HP:0000306	Abnormality of the chin	4208	MEF2C	OMIM:613443
HP:0000306	Abnormality of the chin	4654	MYOD1	OMIM:618975
HP:0000306	Abnormality of the chin	6664	SOX11	OMIM:615866
HP:0000306	Abnormality of the chin	5728	PTEN	ORPHA:79076
HP:0000306	Abnormality of the chin	657	BMPR1A	ORPHA:79076
HP:0000306	Abnormality of the chin	9401	RECQL4	OMIM:266280
HP:0000306	Abnormality of the chin	6595	SMARCA2	OMIM:619293
HP:0000306	Abnormality of the chin	7020	TFAP2A	OMIM:113620
HP:0000306	Abnormality of the chin	3763	KCNJ6	ORPHA:435628
HP:0000306	Abnormality of the chin	117581	TWIST2	ORPHA:1807
HP:0000306	Abnormality of the chin	4621	MYH3	ORPHA:2053
HP:0000306	Abnormality of the chin	4621	MYH3	OMIM:193700
HP:0000306	Abnormality of the chin	259232	NALCN	ORPHA:2053
HP:0000306	Abnormality of the chin	348180	CTU2	OMIM:618142
HP:0000306	Abnormality of the chin	860	RUNX2	ORPHA:1452
HP:0000306	Abnormality of the chin	2146	EZH2	OMIM:277590
HP:0000306	Abnormality of the chin	63895	PIEZO2	ORPHA:1154
HP:0000306	Abnormality of the chin	23384	SPECC1L	ORPHA:1519
HP:0000306	Abnormality of the chin	55636	CHD7	ORPHA:138
HP:0000306	Abnormality of the chin	9723	SEMA3E	ORPHA:138
HP:0000306	Abnormality of the chin	50945	TBX22	ORPHA:921
HP:0000306	Abnormality of the chin	7291	TWIST1	OMIM:101400
HP:0000306	Abnormality of the chin	2263	FGFR2	OMIM:101400
HP:0000306	Abnormality of the chin	63932	STEEP1	OMIM:301013
HP:0000306	Abnormality of the chin	6558	SLC12A2	OMIM:619080
HP:0000306	Abnormality of the chin	284058	KANSL1	ORPHA:363965
HP:0000306	Abnormality of the chin	284058	KANSL1	ORPHA:363958
HP:0000306	Abnormality of the chin	284058	KANSL1	OMIM:610443
HP:0000306	Abnormality of the chin	6872	TAF1	OMIM:300966
HP:0000306	Abnormality of the chin	1859	DYRK1A	ORPHA:268261
HP:0000306	Abnormality of the chin	4010	LMX1B	ORPHA:495818
HP:0000306	Abnormality of the chin	6812	STXBP1	ORPHA:495818
HP:0000306	Abnormality of the chin	51322	WAC	ORPHA:466950
HP:0000306	Abnormality of the chin	7227	TRPS1	OMIM:190350
HP:0000306	Abnormality of the chin	79005	SCNM1	OMIM:620107
HP:0000306	Abnormality of the chin	1009	CDH11	OMIM:619736
HP:0000306	Abnormality of the chin	8726	EED	OMIM:617561
HP:0000306	Abnormality of the chin	388015	RTL1	ORPHA:96334
HP:0000306	Abnormality of the chin	8788	DLK1	ORPHA:96334
HP:0000306	Abnormality of the chin	55384	MEG3	ORPHA:96334
HP:0000306	Abnormality of the chin	27086	FOXP1	ORPHA:391372
HP:0000306	Abnormality of the chin	8260	NAA10	OMIM:300855
HP:0000306	Abnormality of the chin	11011	TLK2	OMIM:618050
HP:0000306	Abnormality of the chin	4626	MYH8	OMIM:158300
HP:0000306	Abnormality of the chin	4983	OPHN1	ORPHA:137831
HP:0000306	Abnormality of the chin	1968	EIF2S3	OMIM:300148
HP:0000306	Abnormality of the chin	64324	NSD1	ORPHA:821
HP:0000306	Abnormality of the chin	29072	SETD2	ORPHA:821
HP:0000306	Abnormality of the chin	10297	APC2	ORPHA:821
HP:0000301	Abnormality of facial musculature	50801	KCNK4	OMIM:618381
HP:0000301	Abnormality of facial musculature	7528	YY1	ORPHA:506358
HP:0000301	Abnormality of facial musculature	7528	YY1	OMIM:617557
HP:0000301	Abnormality of facial musculature	5518	PPP2R1A	OMIM:616362
HP:0000301	Abnormality of facial musculature	5518	PPP2R1A	ORPHA:457284
HP:0000301	Abnormality of facial musculature	55768	NGLY1	OMIM:615273
HP:0000301	Abnormality of facial musculature	55768	NGLY1	ORPHA:404454
HP:0000301	Abnormality of facial musculature	27107	ZBTB11	OMIM:618383
HP:0000301	Abnormality of facial musculature	2892	GRIA3	ORPHA:364028
HP:0000301	Abnormality of facial musculature	11154	AP4S1	OMIM:614067
HP:0000301	Abnormality of facial musculature	11154	AP4S1	ORPHA:280763
HP:0000301	Abnormality of facial musculature	23126	POGZ	OMIM:616364
HP:0000301	Abnormality of facial musculature	23126	POGZ	ORPHA:468678
HP:0000301	Abnormality of facial musculature	92335	STRADA	ORPHA:500533
HP:0000301	Abnormality of facial musculature	92335	STRADA	OMIM:611087
HP:0000301	Abnormality of facial musculature	6418	SET	OMIM:618106
HP:0000301	Abnormality of facial musculature	285175	UNC80	OMIM:616801
HP:0000301	Abnormality of facial musculature	773	CACNA1A	ORPHA:2131
HP:0000301	Abnormality of facial musculature	6507	SLC1A3	ORPHA:2131
HP:0000301	Abnormality of facial musculature	477	ATP1A2	ORPHA:2131
HP:0000301	Abnormality of facial musculature	9499	MYOT	ORPHA:266
HP:0000301	Abnormality of facial musculature	4125	MAN2B1	ORPHA:309282
HP:0000301	Abnormality of facial musculature	2548	GAA	ORPHA:308552
HP:0000301	Abnormality of facial musculature	23030	KDM4B	OMIM:619320
HP:0000301	Abnormality of facial musculature	283489	CHAMP1	OMIM:616579
HP:0000301	Abnormality of facial musculature	200424	TET3	OMIM:618798
HP:0000301	Abnormality of facial musculature	23431	AP4E1	OMIM:613744
HP:0000301	Abnormality of facial musculature	23431	AP4E1	ORPHA:280763
HP:0000301	Abnormality of facial musculature	271	AMPD2	OMIM:615809
HP:0000301	Abnormality of facial musculature	10717	AP4B1	ORPHA:280763
HP:0000301	Abnormality of facial musculature	9179	AP4M1	ORPHA:280763
HP:0000301	Abnormality of facial musculature	4204	MECP2	OMIM:300055
HP:0000301	Abnormality of facial musculature	4204	MECP2	OMIM:300260
HP:0000301	Abnormality of facial musculature	8925	HERC1	ORPHA:457359
HP:0000301	Abnormality of facial musculature	8242	KDM5C	OMIM:300534
HP:0000301	Abnormality of facial musculature	818	CAMK2G	OMIM:618522
HP:0000301	Abnormality of facial musculature	10463	SLC30A9	OMIM:617595
HP:0000301	Abnormality of facial musculature	5455	POU3F3	OMIM:618604
HP:0000301	Abnormality of facial musculature	1778	DYNC1H1	OMIM:614563
HP:0000301	Abnormality of facial musculature	29940	DSE	OMIM:615539
HP:0000301	Abnormality of facial musculature	157680	VPS13B	OMIM:216550
HP:0000301	Abnormality of facial musculature	7703	PCGF2	OMIM:618371
HP:0000301	Abnormality of facial musculature	171023	ASXL1	ORPHA:97297
HP:0000301	Abnormality of facial musculature	5528	PPP2R5D	OMIM:616355
HP:0000301	Abnormality of facial musculature	57178	ZMIZ1	OMIM:618659
HP:0000301	Abnormality of facial musculature	5813	PURA	ORPHA:438216
HP:0000301	Abnormality of facial musculature	23314	SATB2	OMIM:612313
HP:0000301	Abnormality of facial musculature	5081	PAX7	OMIM:618578
HP:0000301	Abnormality of facial musculature	2719	GPC3	OMIM:312870
HP:0000301	Abnormality of facial musculature	2239	GPC4	OMIM:312870
HP:0000301	Abnormality of facial musculature	64132	XYLT2	ORPHA:85194
HP:0000301	Abnormality of facial musculature	9230	RAB11B	OMIM:617807
HP:0000301	Abnormality of facial musculature	5521	PPP2R2B	OMIM:604326
HP:0000301	Abnormality of facial musculature	111	ADCY5	OMIM:606703
HP:0000301	Abnormality of facial musculature	111	ADCY5	ORPHA:324588
HP:0000301	Abnormality of facial musculature	203190	LGI3	OMIM:620007
HP:0000301	Abnormality of facial musculature	87178	PNPT1	OMIM:608703
HP:0000301	Abnormality of facial musculature	87178	PNPT1	ORPHA:101111
HP:0000301	Abnormality of facial musculature	6712	SPTBN2	OMIM:600224
HP:0000301	Abnormality of facial musculature	215	ABCD1	ORPHA:139396
HP:0000301	Abnormality of facial musculature	5582	PRKCG	OMIM:605361
HP:0000301	Abnormality of facial musculature	2512	FTL	OMIM:606159
HP:0000301	Abnormality of facial musculature	2512	FTL	ORPHA:157846
HP:0000301	Abnormality of facial musculature	8398	PLA2G6	ORPHA:199351
HP:0000301	Abnormality of facial musculature	8398	PLA2G6	OMIM:612953
HP:0000301	Abnormality of facial musculature	9895	TECPR2	ORPHA:320385
HP:0000301	Abnormality of facial musculature	9895	TECPR2	OMIM:615031
HP:0000301	Abnormality of facial musculature	10159	ATP6AP2	OMIM:300911
HP:0000301	Abnormality of facial musculature	10159	ATP6AP2	ORPHA:93952
HP:0000301	Abnormality of facial musculature	10159	ATP6AP2	OMIM:300423
HP:0000301	Abnormality of facial musculature	6571	SLC18A2	OMIM:618049
HP:0000301	Abnormality of facial musculature	6571	SLC18A2	ORPHA:352649
HP:0000301	Abnormality of facial musculature	8506	CNTNAP1	OMIM:618186
HP:0000301	Abnormality of facial musculature	23259	DDHD2	OMIM:615033
HP:0000301	Abnormality of facial musculature	55532	SLC30A10	ORPHA:309854
HP:0000301	Abnormality of facial musculature	58494	JAM2	OMIM:618824
HP:0000301	Abnormality of facial musculature	1213	CLTC	OMIM:617854
HP:0000301	Abnormality of facial musculature	6531	SLC6A3	OMIM:613135
HP:0000301	Abnormality of facial musculature	6531	SLC6A3	ORPHA:238455
HP:0000301	Abnormality of facial musculature	2629	GBA1	ORPHA:411602
HP:0000301	Abnormality of facial musculature	23317	DNAJC13	ORPHA:411602
HP:0000301	Abnormality of facial musculature	1981	EIF4G1	ORPHA:411602
HP:0000301	Abnormality of facial musculature	55737	VPS35	ORPHA:411602
HP:0000301	Abnormality of facial musculature	120892	LRRK2	ORPHA:411602
HP:0000301	Abnormality of facial musculature	26058	GIGYF2	ORPHA:411602
HP:0000301	Abnormality of facial musculature	6622	SNCA	ORPHA:411602
HP:0000301	Abnormality of facial musculature	6622	SNCA	ORPHA:171695
HP:0000301	Abnormality of facial musculature	6697	SPR	ORPHA:70594
HP:0000301	Abnormality of facial musculature	478	ATP1A3	OMIM:128235
HP:0000301	Abnormality of facial musculature	478	ATP1A3	ORPHA:71517
HP:0000301	Abnormality of facial musculature	10907	TXNL4A	OMIM:608572
HP:0000301	Abnormality of facial musculature	9829	DNAJC6	ORPHA:391411
HP:0000301	Abnormality of facial musculature	9829	DNAJC6	OMIM:615528
HP:0000301	Abnormality of facial musculature	5420	PODXL	ORPHA:391411
HP:0000301	Abnormality of facial musculature	8867	SYNJ1	ORPHA:391411
HP:0000301	Abnormality of facial musculature	10935	PRDX3	OMIM:619862
HP:0000301	Abnormality of facial musculature	25793	FBXO7	ORPHA:171695
HP:0000301	Abnormality of facial musculature	25793	FBXO7	OMIM:260300
HP:0000301	Abnormality of facial musculature	23400	ATP13A2	ORPHA:306674
HP:0000301	Abnormality of facial musculature	51305	KCNK9	ORPHA:166108
HP:0000301	Abnormality of facial musculature	55753	OGDHL	OMIM:619701
HP:0000301	Abnormality of facial musculature	9373	PLAA	OMIM:617527
HP:0000301	Abnormality of facial musculature	54862	CC2D1A	OMIM:608443
HP:0000301	Abnormality of facial musculature	4359	MPZ	OMIM:618184
HP:0000301	Abnormality of facial musculature	91574	MTRFR	ORPHA:254930
HP:0000301	Abnormality of facial musculature	91574	MTRFR	OMIM:613559
HP:0000301	Abnormality of facial musculature	112	ADCY6	OMIM:616287
HP:0000301	Abnormality of facial musculature	2733	GLE1	OMIM:611890
HP:0000301	Abnormality of facial musculature	1410	CRYAB	ORPHA:399058
HP:0000301	Abnormality of facial musculature	19	ABCA1	OMIM:205400
HP:0000301	Abnormality of facial musculature	19	ABCA1	ORPHA:31150
HP:0000301	Abnormality of facial musculature	9997	SCO2	ORPHA:521411
HP:0000301	Abnormality of facial musculature	8803	SUCLA2	OMIM:612073
HP:0000301	Abnormality of facial musculature	6472	SHMT2	OMIM:619121
HP:0000301	Abnormality of facial musculature	10730	YME1L1	OMIM:617302
HP:0000301	Abnormality of facial musculature	2218	FKTN	ORPHA:370980
HP:0000301	Abnormality of facial musculature	729920	CRPPA	ORPHA:370980
HP:0000301	Abnormality of facial musculature	1760	DMPK	OMIM:160900
HP:0000301	Abnormality of facial musculature	9990	SLC12A6	OMIM:218000
HP:0000301	Abnormality of facial musculature	57679	ALS2	OMIM:205100
HP:0000301	Abnormality of facial musculature	57679	ALS2	OMIM:606353
HP:0000301	Abnormality of facial musculature	10992	SF3B2	OMIM:164210
HP:0000301	Abnormality of facial musculature	4649	MYO9A	ORPHA:98914
HP:0000301	Abnormality of facial musculature	1103	CHAT	ORPHA:98914
HP:0000301	Abnormality of facial musculature	6576	SLC25A1	ORPHA:98914
HP:0000301	Abnormality of facial musculature	6843	VAMP1	ORPHA:98914
HP:0000301	Abnormality of facial musculature	127833	SYT2	ORPHA:98914
HP:0000301	Abnormality of facial musculature	6572	SLC18A3	ORPHA:98914
HP:0000301	Abnormality of facial musculature	6616	SNAP25	ORPHA:98914
HP:0000301	Abnormality of facial musculature	84570	COL25A1	ORPHA:91411
HP:0000301	Abnormality of facial musculature	79776	ZFHX4	ORPHA:91411
HP:0000301	Abnormality of facial musculature	27247	NFU1	OMIM:605711
HP:0000301	Abnormality of facial musculature	1282	COL4A1	OMIM:175780
HP:0000301	Abnormality of facial musculature	112476	PRRT2	ORPHA:569
HP:0000301	Abnormality of facial musculature	6323	SCN1A	ORPHA:569
HP:0000301	Abnormality of facial musculature	8600	TNFSF11	OMIM:259710
HP:0000301	Abnormality of facial musculature	58	ACTA1	ORPHA:97240
HP:0000301	Abnormality of facial musculature	58	ACTA1	ORPHA:171436
HP:0000301	Abnormality of facial musculature	58	ACTA1	ORPHA:171433
HP:0000301	Abnormality of facial musculature	58	ACTA1	ORPHA:171430
HP:0000301	Abnormality of facial musculature	58	ACTA1	OMIM:616852
HP:0000301	Abnormality of facial musculature	58	ACTA1	OMIM:161800
HP:0000301	Abnormality of facial musculature	50964	SOST	OMIM:269500
HP:0000301	Abnormality of facial musculature	50964	SOST	ORPHA:3416
HP:0000301	Abnormality of facial musculature	50964	SOST	ORPHA:3152
HP:0000301	Abnormality of facial musculature	274	BIN1	ORPHA:169186
HP:0000301	Abnormality of facial musculature	274	BIN1	OMIM:255200
HP:0000301	Abnormality of facial musculature	10290	SPEG	ORPHA:169186
HP:0000301	Abnormality of facial musculature	6261	RYR1	ORPHA:169186
HP:0000301	Abnormality of facial musculature	6261	RYR1	OMIM:255320
HP:0000301	Abnormality of facial musculature	6261	RYR1	ORPHA:178145
HP:0000301	Abnormality of facial musculature	6261	RYR1	ORPHA:98905
HP:0000301	Abnormality of facial musculature	7273	TTN	ORPHA:169186
HP:0000301	Abnormality of facial musculature	291	SLC25A4	ORPHA:254892
HP:0000301	Abnormality of facial musculature	291	SLC25A4	OMIM:609283
HP:0000301	Abnormality of facial musculature	5428	POLG	ORPHA:254892
HP:0000301	Abnormality of facial musculature	5428	POLG	OMIM:258450
HP:0000301	Abnormality of facial musculature	5428	POLG	ORPHA:254886
HP:0000301	Abnormality of facial musculature	5428	POLG	OMIM:157640
HP:0000301	Abnormality of facial musculature	56652	TWNK	ORPHA:254892
HP:0000301	Abnormality of facial musculature	11232	POLG2	ORPHA:254892
HP:0000301	Abnormality of facial musculature	11232	POLG2	OMIM:610131
HP:0000301	Abnormality of facial musculature	50484	RRM2B	ORPHA:254892
HP:0000301	Abnormality of facial musculature	22827	PUF60	ORPHA:508498
HP:0000301	Abnormality of facial musculature	55906	ZC4H2	OMIM:301041
HP:0000301	Abnormality of facial musculature	55906	ZC4H2	OMIM:314580
HP:0000301	Abnormality of facial musculature	2673	GFPT1	OMIM:608931
HP:0000301	Abnormality of facial musculature	2673	GFPT1	ORPHA:353327
HP:0000301	Abnormality of facial musculature	2673	GFPT1	OMIM:610542
HP:0000301	Abnormality of facial musculature	1145	CHRNE	OMIM:608931
HP:0000301	Abnormality of facial musculature	1145	CHRNE	ORPHA:98913
HP:0000301	Abnormality of facial musculature	1291	COL6A1	OMIM:254090
HP:0000301	Abnormality of facial musculature	1292	COL6A2	OMIM:254090
HP:0000301	Abnormality of facial musculature	1292	COL6A2	OMIM:255600
HP:0000301	Abnormality of facial musculature	1293	COL6A3	OMIM:254090
HP:0000301	Abnormality of facial musculature	1144	CHRND	OMIM:616322
HP:0000301	Abnormality of facial musculature	1144	CHRND	OMIM:616323
HP:0000301	Abnormality of facial musculature	1144	CHRND	ORPHA:98913
HP:0000301	Abnormality of facial musculature	2138	EYA1	OMIM:113650
HP:0000301	Abnormality of facial musculature	2138	EYA1	ORPHA:107
HP:0000301	Abnormality of facial musculature	2138	EYA1	ORPHA:52429
HP:0000301	Abnormality of facial musculature	6495	SIX1	OMIM:113650
HP:0000301	Abnormality of facial musculature	6495	SIX1	ORPHA:107
HP:0000301	Abnormality of facial musculature	6495	SIX1	ORPHA:52429
HP:0000301	Abnormality of facial musculature	56203	LMOD3	OMIM:616165
HP:0000301	Abnormality of facial musculature	56203	LMOD3	ORPHA:171436
HP:0000301	Abnormality of facial musculature	56203	LMOD3	ORPHA:171430
HP:0000301	Abnormality of facial musculature	2697	GJA1	ORPHA:1522
HP:0000301	Abnormality of facial musculature	2697	GJA1	OMIM:218400
HP:0000301	Abnormality of facial musculature	56172	ANKH	ORPHA:1522
HP:0000301	Abnormality of facial musculature	56172	ANKH	OMIM:123000
HP:0000301	Abnormality of facial musculature	4593	MUSK	OMIM:616325
HP:0000301	Abnormality of facial musculature	4593	MUSK	ORPHA:98913
HP:0000301	Abnormality of facial musculature	10312	TCIRG1	OMIM:259700
HP:0000301	Abnormality of facial musculature	1305	COL13A1	OMIM:616720
HP:0000301	Abnormality of facial musculature	1305	COL13A1	ORPHA:98913
HP:0000301	Abnormality of facial musculature	23394	ADNP	OMIM:615873
HP:0000301	Abnormality of facial musculature	400916	CHCHD10	OMIM:616209
HP:0000301	Abnormality of facial musculature	4038	LRP4	OMIM:614305
HP:0000301	Abnormality of facial musculature	4038	LRP4	ORPHA:98913
HP:0000301	Abnormality of facial musculature	4038	LRP4	ORPHA:3152
HP:0000301	Abnormality of facial musculature	7415	VCP	OMIM:167320
HP:0000301	Abnormality of facial musculature	1134	CHRNA1	OMIM:608930
HP:0000301	Abnormality of facial musculature	1134	CHRNA1	ORPHA:98913
HP:0000301	Abnormality of facial musculature	4747	NEFL	OMIM:607684
HP:0000301	Abnormality of facial musculature	825	CAPN3	OMIM:253600
HP:0000301	Abnormality of facial musculature	57167	SALL4	OMIM:607323
HP:0000301	Abnormality of facial musculature	79581	SLC52A2	OMIM:614707
HP:0000301	Abnormality of facial musculature	10049	DNAJB6	OMIM:603511
HP:0000301	Abnormality of facial musculature	1120	CHKB	OMIM:602541
HP:0000301	Abnormality of facial musculature	57165	GJC2	OMIM:608804
HP:0000301	Abnormality of facial musculature	29887	SNX10	OMIM:615085
HP:0000301	Abnormality of facial musculature	7169	TPM2	ORPHA:171436
HP:0000301	Abnormality of facial musculature	7169	TPM2	ORPHA:171881
HP:0000301	Abnormality of facial musculature	4703	NEB	ORPHA:171436
HP:0000301	Abnormality of facial musculature	4703	NEB	ORPHA:171433
HP:0000301	Abnormality of facial musculature	4703	NEB	ORPHA:171430
HP:0000301	Abnormality of facial musculature	10324	KLHL41	ORPHA:171436
HP:0000301	Abnormality of facial musculature	10324	KLHL41	ORPHA:171433
HP:0000301	Abnormality of facial musculature	10324	KLHL41	ORPHA:171430
HP:0000301	Abnormality of facial musculature	1073	CFL2	ORPHA:171436
HP:0000301	Abnormality of facial musculature	60482	SLC5A7	OMIM:617143
HP:0000301	Abnormality of facial musculature	7084	TK2	ORPHA:254886
HP:0000301	Abnormality of facial musculature	92667	MGME1	OMIM:615084
HP:0000301	Abnormality of facial musculature	7170	TPM3	ORPHA:171433
HP:0000301	Abnormality of facial musculature	7170	TPM3	ORPHA:171881
HP:0000301	Abnormality of facial musculature	7170	TPM3	OMIM:255310
HP:0000301	Abnormality of facial musculature	29998	BICRA	OMIM:619325
HP:0000301	Abnormality of facial musculature	131377	KLHL40	ORPHA:171430
HP:0000301	Abnormality of facial musculature	131377	KLHL40	OMIM:615348
HP:0000301	Abnormality of facial musculature	9790	BMS1	ORPHA:1114
HP:0000301	Abnormality of facial musculature	5339	PLEC	ORPHA:1114
HP:0000301	Abnormality of facial musculature	10054	UBA2	ORPHA:1114
HP:0000301	Abnormality of facial musculature	3691	ITGB4	ORPHA:1114
HP:0000301	Abnormality of facial musculature	54567	DLL4	ORPHA:1114
HP:0000301	Abnormality of facial musculature	4041	LRP5	ORPHA:3416
HP:0000301	Abnormality of facial musculature	4041	LRP5	ORPHA:2790
HP:0000301	Abnormality of facial musculature	4041	LRP5	ORPHA:178377
HP:0000301	Abnormality of facial musculature	84466	MEGF10	OMIM:614399
HP:0000301	Abnormality of facial musculature	55636	CHD7	ORPHA:138
HP:0000301	Abnormality of facial musculature	55636	CHD7	OMIM:214800
HP:0000301	Abnormality of facial musculature	9723	SEMA3E	ORPHA:138
HP:0000301	Abnormality of facial musculature	3908	LAMA2	ORPHA:258
HP:0000301	Abnormality of facial musculature	4625	MYH7	OMIM:160500
HP:0000301	Abnormality of facial musculature	4625	MYH7	ORPHA:437572
HP:0000301	Abnormality of facial musculature	389827	MYMK	ORPHA:1358
HP:0000301	Abnormality of facial musculature	389827	MYMK	OMIM:254940
HP:0000301	Abnormality of facial musculature	101929726	MYMX	ORPHA:1358
HP:0000301	Abnormality of facial musculature	29925	GMPPB	ORPHA:353327
HP:0000301	Abnormality of facial musculature	29925	GMPPB	ORPHA:370968
HP:0000301	Abnormality of facial musculature	1798	DPAGT1	ORPHA:353327
HP:0000301	Abnormality of facial musculature	85365	ALG2	ORPHA:353327
HP:0000301	Abnormality of facial musculature	199857	ALG14	ORPHA:353327
HP:0000301	Abnormality of facial musculature	427	ASAH1	OMIM:159950
HP:0000301	Abnormality of facial musculature	79147	FKRP	ORPHA:370968
HP:0000301	Abnormality of facial musculature	79147	FKRP	OMIM:606612
HP:0000301	Abnormality of facial musculature	29954	POMT2	ORPHA:370968
HP:0000301	Abnormality of facial musculature	29954	POMT2	OMIM:613156
HP:0000301	Abnormality of facial musculature	9215	LARGE1	ORPHA:370968
HP:0000301	Abnormality of facial musculature	9215	LARGE1	OMIM:608840
HP:0000301	Abnormality of facial musculature	10585	POMT1	ORPHA:370968
HP:0000301	Abnormality of facial musculature	10585	POMT1	OMIM:613155
HP:0000301	Abnormality of facial musculature	57190	SELENON	OMIM:602771
HP:0000301	Abnormality of facial musculature	51816	ADA2	OMIM:182410
HP:0000301	Abnormality of facial musculature	5980	REV3L	ORPHA:570
HP:0000301	Abnormality of facial musculature	23129	PLXND1	ORPHA:570
HP:0000301	Abnormality of facial musculature	10735	STAG2	OMIM:301022
HP:0000301	Abnormality of facial musculature	2483	FRG1	OMIM:158900
HP:0000301	Abnormality of facial musculature	23347	SMCHD1	OMIM:158901
HP:0000301	Abnormality of facial musculature	8878	SQSTM1	OMIM:617158
HP:0000301	Abnormality of facial musculature	84665	MYPN	ORPHA:171881
HP:0000301	Abnormality of facial musculature	84665	MYPN	OMIM:617336
HP:0000301	Abnormality of facial musculature	10381	TUBB3	OMIM:600638
HP:0000301	Abnormality of facial musculature	22954	TRIM32	OMIM:254110
HP:0000301	Abnormality of facial musculature	56244	BTNL2	OMIM:612387
HP:0000301	Abnormality of facial musculature	56244	BTNL2	ORPHA:797
HP:0000301	Abnormality of facial musculature	29967	LRP12	OMIM:164310
HP:0000301	Abnormality of facial musculature	10020	GNE	ORPHA:602
HP:0000301	Abnormality of facial musculature	7020	TFAP2A	OMIM:113620
HP:0000301	Abnormality of facial musculature	51651	PTRH2	ORPHA:456312
HP:0000301	Abnormality of facial musculature	1303	COL12A1	OMIM:616470
HP:0000301	Abnormality of facial musculature	7317	UBA1	OMIM:301830
HP:0000301	Abnormality of facial musculature	390594	KBTBD13	OMIM:609273
HP:0000301	Abnormality of facial musculature	139285	AMER1	ORPHA:2780
HP:0000301	Abnormality of facial musculature	139285	AMER1	OMIM:300373
HP:0000301	Abnormality of facial musculature	9531	BAG3	OMIM:612954
HP:0000301	Abnormality of facial musculature	9244	CRLF1	OMIM:272430
HP:0000301	Abnormality of facial musculature	113278	SLC52A3	OMIM:211530
HP:0000301	Abnormality of facial musculature	3123	HLA-DRB1	ORPHA:797
HP:0000301	Abnormality of facial musculature	84617	TUBB6	OMIM:617732
HP:0000301	Abnormality of facial musculature	9791	PTDSS1	ORPHA:2658
HP:0000301	Abnormality of facial musculature	8314	BAP1	ORPHA:2495
HP:0000301	Abnormality of facial musculature	4771	NF2	ORPHA:2495
HP:0000301	Abnormality of facial musculature	4771	NF2	ORPHA:637
HP:0000301	Abnormality of facial musculature	6598	SMARCB1	ORPHA:2495
HP:0000301	Abnormality of facial musculature	5155	PDGFB	ORPHA:2495
HP:0000301	Abnormality of facial musculature	84231	TRAF7	ORPHA:2495
HP:0000301	Abnormality of facial musculature	6608	SMO	ORPHA:2495
HP:0000301	Abnormality of facial musculature	207	AKT1	ORPHA:2495
HP:0000301	Abnormality of facial musculature	5290	PIK3CA	ORPHA:2495
HP:0000301	Abnormality of facial musculature	7015	TERT	ORPHA:2495
HP:0000301	Abnormality of facial musculature	51684	SUFU	ORPHA:2495
HP:0000301	Abnormality of facial musculature	6605	SMARCE1	ORPHA:2495
HP:0000301	Abnormality of facial musculature	3211	HOXB1	OMIM:614744
HP:0000301	Abnormality of facial musculature	4534	MTM1	OMIM:310400
HP:0000301	Abnormality of facial musculature	7040	TGFB1	ORPHA:1328
HP:0000301	Abnormality of facial musculature	8085	KMT2D	OMIM:620186
HP:0000301	Abnormality of facial musculature	80704	SLC19A3	OMIM:607483
HP:0000301	Abnormality of facial musculature	147912	SIX5	ORPHA:107
HP:0000301	Abnormality of facial musculature	8898	MTMR2	OMIM:601382
HP:0000301	Abnormality of facial musculature	1785	DNM2	OMIM:160150
HP:0000301	Abnormality of facial musculature	64419	MTMR14	OMIM:160150
HP:0000301	Abnormality of facial musculature	2934	GSN	ORPHA:85448
HP:0000301	Abnormality of facial musculature	23095	KIF1B	OMIM:118210
HP:0000301	Abnormality of facial musculature	1674	DES	OMIM:601419
HP:0000301	Abnormality of facial musculature	8292	COLQ	ORPHA:98915
HP:0000301	Abnormality of facial musculature	3913	LAMB2	ORPHA:98915
HP:0000301	Abnormality of facial musculature	6444	SGCD	ORPHA:219
HP:0000301	Abnormality of facial musculature	23516	SLC39A14	OMIM:144755
HP:0000301	Abnormality of facial musculature	8106	PABPN1	OMIM:164300
HP:0000301	Abnormality of facial musculature	6329	SCN4A	ORPHA:98913
HP:0000301	Abnormality of facial musculature	1140	CHRNB1	ORPHA:98913
HP:0000301	Abnormality of facial musculature	1140	CHRNB1	OMIM:616313
HP:0000301	Abnormality of facial musculature	5913	RAPSN	ORPHA:98913
HP:0000301	Abnormality of facial musculature	375790	AGRN	ORPHA:98913
HP:0000301	Abnormality of facial musculature	221264	AK9	ORPHA:98913
HP:0000301	Abnormality of facial musculature	285489	DOK7	ORPHA:98913
HP:0000301	Abnormality of facial musculature	1186	CLCN7	OMIM:166600
HP:0000301	Abnormality of facial musculature	1186	CLCN7	OMIM:611490
HP:0000301	Abnormality of facial musculature	1186	CLCN7	ORPHA:53
HP:0000301	Abnormality of facial musculature	55670	PEX26	ORPHA:772
HP:0000301	Abnormality of facial musculature	5824	PEX19	ORPHA:772
HP:0000301	Abnormality of facial musculature	5828	PEX2	ORPHA:772
HP:0000301	Abnormality of facial musculature	8504	PEX3	ORPHA:772
HP:0000301	Abnormality of facial musculature	9409	PEX16	ORPHA:772
HP:0000301	Abnormality of facial musculature	5190	PEX6	ORPHA:772
HP:0000301	Abnormality of facial musculature	8799	PEX11B	ORPHA:772
HP:0000301	Abnormality of facial musculature	5830	PEX5	ORPHA:772
HP:0000301	Abnormality of facial musculature	5189	PEX1	ORPHA:772
HP:0000301	Abnormality of facial musculature	5193	PEX12	ORPHA:772
HP:0000301	Abnormality of facial musculature	5194	PEX13	ORPHA:772
HP:0000301	Abnormality of facial musculature	5195	PEX14	ORPHA:772
HP:0000301	Abnormality of facial musculature	5192	PEX10	ORPHA:772
HP:0000301	Abnormality of facial musculature	339855	KY	OMIM:617114
HP:0000301	Abnormality of facial musculature	84168	ANTXR1	OMIM:230740
HP:0000301	Abnormality of facial musculature	57731	SPTBN4	OMIM:617519
HP:0000301	Abnormality of facial musculature	64127	NOD2	ORPHA:90340
HP:0000301	Abnormality of facial musculature	8139	GAN	ORPHA:643
HP:0000301	Abnormality of facial musculature	8139	GAN	OMIM:256850
HP:0000301	Abnormality of facial musculature	28962	OSTM1	OMIM:259720
HP:0000301	Abnormality of facial musculature	79628	SH3TC2	OMIM:601596
HP:0000301	Abnormality of facial musculature	4633	MYL2	OMIM:619424
HP:0000301	Abnormality of facial musculature	29089	UBE2T	OMIM:616435
HP:0000301	Abnormality of facial musculature	203859	ANO5	OMIM:611307
HP:0000301	Abnormality of facial musculature	203859	ANO5	ORPHA:206549
HP:0000301	Abnormality of facial musculature	1861	TOR1A	OMIM:128100
HP:0000301	Abnormality of facial musculature	59341	TRPV4	OMIM:181405
HP:0000301	Abnormality of facial musculature	4556	MT-TE	ORPHA:2596
HP:0000301	Abnormality of facial musculature	11198	SUPT16H	OMIM:619480
HP:0000301	Abnormality of facial musculature	7516	XRCC2	OMIM:617247
HP:0000301	Abnormality of facial musculature	3098	HK1	OMIM:618547
HP:0000301	Abnormality of facial musculature	353116	RILPL1	OMIM:619790
HP:0000301	Abnormality of facial musculature	253738	EBF3	OMIM:617330
HP:0000301	Abnormality of facial musculature	55791	LRIF1	OMIM:619477
HP:0000301	Abnormality of facial musculature	1789	DNMT3B	OMIM:619478
HP:0000301	Abnormality of facial musculature	10755	GIPC1	OMIM:618940
HP:0000301	Abnormality of facial musculature	10755	GIPC1	ORPHA:98897
HP:0000301	Abnormality of facial musculature	4574	MT-TS1	OMIM:220110
HP:0000301	Abnormality of facial musculature	4570	MT-TN	OMIM:220110
HP:0000301	Abnormality of facial musculature	6834	SURF1	OMIM:220110
HP:0000301	Abnormality of facial musculature	100996717	NOTCH2NLC	OMIM:619473
HP:0000301	Abnormality of facial musculature	100996717	NOTCH2NLC	ORPHA:98897
HP:0000301	Abnormality of facial musculature	35	ACADS	OMIM:201470
HP:0000301	Abnormality of facial musculature	246243	RNASEH1	ORPHA:329336
HP:0000301	Abnormality of facial musculature	57863	CADM3	OMIM:619519
HP:0000301	Abnormality of facial musculature	2318	FLNC	ORPHA:63273
HP:0000301	Abnormality of facial musculature	1639	DCTN1	OMIM:607641
HP:0000301	Abnormality of facial musculature	7555	CNBP	OMIM:602668
HP:0000301	Abnormality of facial musculature	3714	JAG2	OMIM:619566
HP:0000301	Abnormality of facial musculature	101060691	NUTM2B-AS1	OMIM:618637
HP:0000301	Abnormality of facial musculature	23529	CLCF1	OMIM:610313
HP:0000301	Abnormality of facial musculature	9200	HACD1	OMIM:619967
HP:0000301	Abnormality of facial musculature	9200	HACD1	ORPHA:2020
HP:0000301	Abnormality of facial musculature	7125	TNNC2	OMIM:620161
HP:0000301	Abnormality of facial musculature	10059	DNM1L	ORPHA:98673
HP:0000301	Abnormality of facial musculature	4976	OPA1	ORPHA:98673
HP:0000301	Abnormality of facial musculature	1146	CHRNG	OMIM:265000
HP:0000301	Abnormality of facial musculature	122622	ADSS1	OMIM:617030
HP:0000301	Abnormality of facial musculature	122622	ADSS1	ORPHA:482601
HP:0000301	Abnormality of facial musculature	1621	DBH	OMIM:223360
HP:0000301	Abnormality of facial musculature	64207	IRF2BPL	OMIM:618088
HP:0000301	Abnormality of facial musculature	8565	YARS1	OMIM:619418
HP:0000301	Abnormality of facial musculature	311	ANXA11	OMIM:619733
HP:0000301	Abnormality of facial musculature	81846	SBF2	ORPHA:99956
HP:0000301	Abnormality of facial musculature	1339	COX6A2	OMIM:619062
HP:0000301	Abnormality of facial musculature	3679	ITGA7	ORPHA:2020
HP:0000301	Abnormality of facial musculature	51776	MAP3K20	ORPHA:2020
HP:0000301	Abnormality of facial musculature	11277	TREX1	ORPHA:247691
HP:0000301	Abnormality of facial musculature	88	ACTN2	OMIM:618654
HP:0000301	Abnormality of facial musculature	54332	GDAP1	ORPHA:99948
HP:0000301	Abnormality of facial musculature	4632	MYL1	OMIM:618414
HP:0000301	Abnormality of facial musculature	89874	SLC25A21	OMIM:618811
HP:0000301	Abnormality of facial musculature	79731	NARS2	OMIM:616239
HP:0000301	Abnormality of facial musculature	284439	SLC25A42	OMIM:618416
HP:0000301	Abnormality of facial musculature	55154	MSTO1	ORPHA:502423
HP:0000301	Abnormality of facial musculature	23175	LPIN1	ORPHA:99845
HP:0000301	Abnormality of facial musculature	4512	MT-CO1	ORPHA:99845
HP:0000301	Abnormality of facial musculature	4514	MT-CO3	ORPHA:99845
HP:0000301	Abnormality of facial musculature	4487	MSX1	ORPHA:141291
HP:0000301	Abnormality of facial musculature	5818	NECTIN1	ORPHA:141291
HP:0000301	Abnormality of facial musculature	8626	TP63	ORPHA:141291
HP:0000301	Abnormality of facial musculature	3664	IRF6	ORPHA:141291
HP:0000301	Abnormality of facial musculature	9289	ADGRG1	ORPHA:98889
HP:0000301	Abnormality of facial musculature	5297	PI4KA	ORPHA:98889
HP:0000301	Abnormality of facial musculature	27286	SRPX2	ORPHA:98889
HP:0000301	Abnormality of facial musculature	6310	ATXN1	ORPHA:98755
HP:0000301	Abnormality of facial musculature	23345	SYNE1	ORPHA:319332
HP:0000301	Abnormality of facial musculature	779	CACNA1S	ORPHA:423
HP:0010527	Astereognosia	10159	ATP6AP2	OMIM:300423
HP:0010527	Astereognosia	10159	ATP6AP2	ORPHA:93952
HP:0010527	Astereognosia	215	ABCD1	ORPHA:139396
HP:0010528	Prosopagnosia	2058	EPRS1	OMIM:617951
HP:0010529	Echolalia	5339	PLEC	ORPHA:257
HP:0010529	Echolalia	1540	CYLD	OMIM:619132
HP:0010529	Echolalia	57680	CHD8	OMIM:615032
HP:0010529	Echolalia	4137	MAPT	OMIM:172700
HP:0010529	Echolalia	4137	MAPT	ORPHA:275864
HP:0010529	Echolalia	5663	PSEN1	OMIM:172700
HP:0010529	Echolalia	5663	PSEN1	ORPHA:275864
HP:0010529	Echolalia	6711	SPTBN1	OMIM:619475
HP:0010529	Echolalia	23394	ADNP	OMIM:615873
HP:0010529	Echolalia	162417	NAGS	ORPHA:927
HP:0010529	Echolalia	10165	SLC25A13	ORPHA:247585
HP:0010529	Echolalia	8924	HERC2	OMIM:615516
HP:0010529	Echolalia	201163	FLCN	OMIM:610883
HP:0010529	Echolalia	2260	FGFR1	ORPHA:2396
HP:0010529	Echolalia	3845	KRAS	ORPHA:2396
HP:0010529	Echolalia	3067	HDC	OMIM:137580
HP:0010529	Echolalia	114798	SLITRK1	OMIM:137580
HP:0010529	Echolalia	79813	EHMT1	ORPHA:96147
HP:0010529	Echolalia	9719	ADAMTSL2	ORPHA:1901
HP:0010529	Echolalia	9509	ADAMTS2	ORPHA:1901
HP:0010529	Echolalia	118987	PDZD8	OMIM:620021
HP:0010529	Echolalia	10159	ATP6AP2	ORPHA:93952
HP:0010529	Echolalia	6925	TCF4	ORPHA:2896
HP:0010529	Echolalia	71	ACTG1	ORPHA:2995
HP:0010529	Echolalia	60	ACTB	ORPHA:2995
HP:0010529	Echolalia	54539	NDUFB11	ORPHA:2556
HP:0010529	Echolalia	1349	COX7B	ORPHA:2556
HP:0010529	Echolalia	3052	HCCS	ORPHA:2556
HP:0010529	Echolalia	55343	SLC35C1	OMIM:266265
HP:0010529	Echolalia	22827	PUF60	ORPHA:508488
HP:0010529	Echolalia	2898	GRIK2	OMIM:619580
HP:0010529	Echolalia	6595	SMARCA2	ORPHA:3051
HP:0010529	Echolalia	7319	UBE2A	OMIM:300860
HP:0010529	Echolalia	7319	UBE2A	ORPHA:163956
HP:0010529	Echolalia	6616	SNAP25	OMIM:616330
HP:0010529	Echolalia	25978	CHMP2B	ORPHA:275864
HP:0010529	Echolalia	2896	GRN	ORPHA:275864
HP:0010529	Echolalia	54664	TMEM106B	ORPHA:275864
HP:0010529	Echolalia	8878	SQSTM1	ORPHA:275864
HP:0010529	Echolalia	54209	TREM2	ORPHA:275864
HP:0010529	Echolalia	7415	VCP	ORPHA:275864
HP:0010529	Echolalia	139285	AMER1	ORPHA:2780
HP:0010529	Echolalia	150468	CKAP2L	ORPHA:3255
HP:0010529	Echolalia	10743	RAI1	ORPHA:1713
HP:0010529	Echolalia	1278	COL1A2	ORPHA:1899
HP:0010529	Echolalia	1277	COL1A1	ORPHA:1899
HP:0010521	Gait apraxia	54902	TTC19	OMIM:615157
HP:0010521	Gait apraxia	5654	HTRA1	OMIM:600142
HP:0010521	Gait apraxia	10730	YME1L1	OMIM:617302
HP:0010521	Gait apraxia	4204	MECP2	OMIM:312750
HP:0010526	Dysgraphia	4072	EPCAM	ORPHA:144
HP:0010526	Dysgraphia	4292	MLH1	ORPHA:144
HP:0010526	Dysgraphia	5395	PMS2	ORPHA:144
HP:0010526	Dysgraphia	27030	MLH3	ORPHA:144
HP:0010526	Dysgraphia	22909	FAN1	ORPHA:144
HP:0010526	Dysgraphia	7048	TGFBR2	ORPHA:144
HP:0010526	Dysgraphia	3845	KRAS	ORPHA:144
HP:0010526	Dysgraphia	5290	PIK3CA	ORPHA:144
HP:0010526	Dysgraphia	2956	MSH6	ORPHA:144
HP:0010526	Dysgraphia	5378	PMS1	ORPHA:144
HP:0010526	Dysgraphia	4436	MSH2	ORPHA:144
HP:0010526	Dysgraphia	25978	CHMP2B	ORPHA:100069
HP:0010526	Dysgraphia	25978	CHMP2B	ORPHA:275864
HP:0010526	Dysgraphia	25978	CHMP2B	ORPHA:100070
HP:0010526	Dysgraphia	5663	PSEN1	ORPHA:100069
HP:0010526	Dysgraphia	5663	PSEN1	ORPHA:275864
HP:0010526	Dysgraphia	5663	PSEN1	ORPHA:1020
HP:0010526	Dysgraphia	5663	PSEN1	ORPHA:100070
HP:0010526	Dysgraphia	2896	GRN	ORPHA:100069
HP:0010526	Dysgraphia	2896	GRN	ORPHA:275864
HP:0010526	Dysgraphia	2896	GRN	ORPHA:100070
HP:0010526	Dysgraphia	54664	TMEM106B	ORPHA:100069
HP:0010526	Dysgraphia	54664	TMEM106B	ORPHA:275864
HP:0010526	Dysgraphia	54664	TMEM106B	ORPHA:100070
HP:0010526	Dysgraphia	4137	MAPT	ORPHA:100069
HP:0010526	Dysgraphia	4137	MAPT	ORPHA:275864
HP:0010526	Dysgraphia	4137	MAPT	ORPHA:100070
HP:0010526	Dysgraphia	54209	TREM2	ORPHA:100069
HP:0010526	Dysgraphia	54209	TREM2	ORPHA:275864
HP:0010526	Dysgraphia	54209	TREM2	ORPHA:1020
HP:0010526	Dysgraphia	54209	TREM2	ORPHA:100070
HP:0010526	Dysgraphia	339453	TMEM240	ORPHA:98773
HP:0010526	Dysgraphia	339453	TMEM240	OMIM:607454
HP:0010526	Dysgraphia	51324	SPG21	ORPHA:101001
HP:0010526	Dysgraphia	55553	SOX6	OMIM:618971
HP:0010526	Dysgraphia	64218	SEMA4A	ORPHA:440437
HP:0010526	Dysgraphia	657	BMPR1A	ORPHA:440437
HP:0010526	Dysgraphia	6224	RPS20	ORPHA:440437
HP:0010526	Dysgraphia	8878	SQSTM1	ORPHA:275864
HP:0010526	Dysgraphia	7415	VCP	ORPHA:275864
HP:0010526	Dysgraphia	7415	VCP	ORPHA:100070
HP:0010526	Dysgraphia	6804	STX1A	ORPHA:904
HP:0010526	Dysgraphia	7461	CLIP2	ORPHA:904
HP:0010526	Dysgraphia	84277	DNAJC30	ORPHA:904
HP:0010526	Dysgraphia	8468	FKBP6	ORPHA:904
HP:0010526	Dysgraphia	5982	RFC2	ORPHA:904
HP:0010526	Dysgraphia	2969	GTF2I	ORPHA:904
HP:0010526	Dysgraphia	3984	LIMK1	ORPHA:904
HP:0010526	Dysgraphia	9569	GTF2IRD1	ORPHA:904
HP:0010526	Dysgraphia	155382	VPS37D	ORPHA:904
HP:0010526	Dysgraphia	155368	METTL27	ORPHA:904
HP:0010526	Dysgraphia	114049	BUD23	ORPHA:904
HP:0010526	Dysgraphia	7458	EIF4H	ORPHA:904
HP:0010526	Dysgraphia	84163	GTF2IRD2	ORPHA:904
HP:0010526	Dysgraphia	9275	BCL7B	ORPHA:904
HP:0010526	Dysgraphia	26608	TBL2	ORPHA:904
HP:0010526	Dysgraphia	653361	NCF1	ORPHA:904
HP:0010526	Dysgraphia	135886	TMEM270	ORPHA:904
HP:0010526	Dysgraphia	51085	MLXIPL	ORPHA:904
HP:0010526	Dysgraphia	9031	BAZ1B	ORPHA:904
HP:0010526	Dysgraphia	2006	ELN	ORPHA:904
HP:0010526	Dysgraphia	5664	PSEN2	ORPHA:1020
HP:0010526	Dysgraphia	10452	TOMM40	ORPHA:1020
HP:0010526	Dysgraphia	351	APP	ORPHA:1020
HP:0010526	Dysgraphia	10347	ABCA7	ORPHA:1020
HP:0010526	Dysgraphia	6653	SORL1	ORPHA:1020
HP:0010526	Dysgraphia	2259	FGF14	ORPHA:98764
HP:0010525	Finger agnosia	5663	PSEN1	ORPHA:1020
HP:0010525	Finger agnosia	5664	PSEN2	ORPHA:1020
HP:0010525	Finger agnosia	10452	TOMM40	ORPHA:1020
HP:0010525	Finger agnosia	351	APP	ORPHA:1020
HP:0010525	Finger agnosia	54209	TREM2	ORPHA:1020
HP:0010525	Finger agnosia	10347	ABCA7	ORPHA:1020
HP:0010525	Finger agnosia	6653	SORL1	ORPHA:1020
HP:0010524	Agnosia	64218	SEMA4A	ORPHA:440437
HP:0010524	Agnosia	657	BMPR1A	ORPHA:440437
HP:0010524	Agnosia	6224	RPS20	ORPHA:440437
HP:0010524	Agnosia	4072	EPCAM	ORPHA:144
HP:0010524	Agnosia	4292	MLH1	ORPHA:144
HP:0010524	Agnosia	5395	PMS2	ORPHA:144
HP:0010524	Agnosia	27030	MLH3	ORPHA:144
HP:0010524	Agnosia	22909	FAN1	ORPHA:144
HP:0010524	Agnosia	7048	TGFBR2	ORPHA:144
HP:0010524	Agnosia	3845	KRAS	ORPHA:144
HP:0010524	Agnosia	5290	PIK3CA	ORPHA:144
HP:0010524	Agnosia	2956	MSH6	ORPHA:144
HP:0010524	Agnosia	5378	PMS1	ORPHA:144
HP:0010524	Agnosia	4436	MSH2	ORPHA:144
HP:0010524	Agnosia	348	APOE	OMIM:607822
HP:0010524	Agnosia	7305	TYROBP	ORPHA:2770
HP:0010524	Agnosia	7305	TYROBP	OMIM:221770
HP:0010524	Agnosia	5664	PSEN2	ORPHA:1020
HP:0010524	Agnosia	10452	TOMM40	ORPHA:1020
HP:0010524	Agnosia	351	APP	ORPHA:1020
HP:0010524	Agnosia	10347	ABCA7	ORPHA:1020
HP:0010524	Agnosia	6653	SORL1	ORPHA:1020
HP:0010524	Agnosia	10159	ATP6AP2	OMIM:300423
HP:0010524	Agnosia	10159	ATP6AP2	ORPHA:93952
HP:0010524	Agnosia	215	ABCD1	ORPHA:139396
HP:0010524	Agnosia	2058	EPRS1	OMIM:617951
HP:0010524	Agnosia	25978	CHMP2B	ORPHA:100069
HP:0010524	Agnosia	5663	PSEN1	ORPHA:100069
HP:0010524	Agnosia	2896	GRN	ORPHA:100069
HP:0010524	Agnosia	54664	TMEM106B	ORPHA:100069
HP:0010524	Agnosia	4137	MAPT	ORPHA:100069
HP:0010524	Agnosia	54209	TREM2	ORPHA:100069
HP:0010524	Agnosia	387119	CEP85L	OMIM:618873
HP:0010523	Alexia	25978	CHMP2B	ORPHA:100069
HP:0010523	Alexia	25978	CHMP2B	ORPHA:100070
HP:0010523	Alexia	5663	PSEN1	ORPHA:100069
HP:0010523	Alexia	5663	PSEN1	ORPHA:100070
HP:0010523	Alexia	2896	GRN	ORPHA:100069
HP:0010523	Alexia	2896	GRN	ORPHA:100070
HP:0010523	Alexia	54664	TMEM106B	ORPHA:100069
HP:0010523	Alexia	54664	TMEM106B	ORPHA:100070
HP:0010523	Alexia	4137	MAPT	ORPHA:100069
HP:0010523	Alexia	4137	MAPT	ORPHA:100070
HP:0010523	Alexia	54209	TREM2	ORPHA:100069
HP:0010523	Alexia	54209	TREM2	ORPHA:100070
HP:0010523	Alexia	7415	VCP	ORPHA:100070
HP:0030961	Microspherophakia	2200	FBN1	OMIM:608328
HP:0030961	Microspherophakia	2200	FBN1	OMIM:154700
HP:0030961	Microspherophakia	4053	LTBP2	OMIM:614819
HP:0030961	Microspherophakia	4053	LTBP2	OMIM:251750
HP:0030961	Microspherophakia	81794	ADAMTS10	OMIM:277600
HP:0030962	Abnormal morphology of the great vessels	5885	RAD21	OMIM:614701
HP:0030962	Abnormal morphology of the great vessels	7355	SLC35A2	ORPHA:356961
HP:0030962	Abnormal morphology of the great vessels	23414	ZFPM2	ORPHA:3303
HP:0030962	Abnormal morphology of the great vessels	23414	ZFPM2	OMIM:187500
HP:0030962	Abnormal morphology of the great vessels	3791	KDR	ORPHA:3303
HP:0030962	Abnormal morphology of the great vessels	8443	GNPAT	OMIM:222765
HP:0030962	Abnormal morphology of the great vessels	26275	HIBCH	ORPHA:88639
HP:0030962	Abnormal morphology of the great vessels	26275	HIBCH	OMIM:250620
HP:0030962	Abnormal morphology of the great vessels	29998	BICRA	OMIM:619325
HP:0030962	Abnormal morphology of the great vessels	83479	DDX59	OMIM:174300
HP:0030962	Abnormal morphology of the great vessels	83479	DDX59	ORPHA:2919
HP:0030962	Abnormal morphology of the great vessels	51684	SUFU	ORPHA:280200
HP:0030962	Abnormal morphology of the great vessels	1147	CHUK	OMIM:613630
HP:0030962	Abnormal morphology of the great vessels	9896	FIG4	ORPHA:3472
HP:0030962	Abnormal morphology of the great vessels	9896	FIG4	OMIM:216340
HP:0030962	Abnormal morphology of the great vessels	55697	VAC14	ORPHA:3472
HP:0030962	Abnormal morphology of the great vessels	7852	CXCR4	ORPHA:51636
HP:0030962	Abnormal morphology of the great vessels	8092	ALX1	ORPHA:306542
HP:0030962	Abnormal morphology of the great vessels	3579	CXCR2	OMIM:619407
HP:0030962	Abnormal morphology of the great vessels	2542	SLC37A4	OMIM:619525
HP:0030962	Abnormal morphology of the great vessels	10084	PQBP1	OMIM:309500
HP:0030962	Abnormal morphology of the great vessels	1663	DDX11	OMIM:613398
HP:0030962	Abnormal morphology of the great vessels	257	ALX3	OMIM:136760
HP:0030962	Abnormal morphology of the great vessels	27152	INTU	OMIM:617925
HP:0030962	Abnormal morphology of the great vessels	27152	INTU	OMIM:617926
HP:0030962	Abnormal morphology of the great vessels	2132	EXT2	OMIM:616682
HP:0030962	Abnormal morphology of the great vessels	51126	NAA20	OMIM:619717
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	OMIM:169100
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	ORPHA:46627
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	OMIM:617035
HP:0030962	Abnormal morphology of the great vessels	2720	GLB1	OMIM:230600
HP:0030962	Abnormal morphology of the great vessels	1131	CHRM3	ORPHA:2970
HP:0030962	Abnormal morphology of the great vessels	1131	CHRM3	OMIM:100100
HP:0030962	Abnormal morphology of the great vessels	9578	CDC42BPB	OMIM:619841
HP:0030962	Abnormal morphology of the great vessels	8942	KYNU	OMIM:617661
HP:0030962	Abnormal morphology of the great vessels	55790	CSGALNACT1	OMIM:618870
HP:0030962	Abnormal morphology of the great vessels	65082	VPS33A	OMIM:617303
HP:0030962	Abnormal morphology of the great vessels	65082	VPS33A	ORPHA:505248
HP:0030962	Abnormal morphology of the great vessels	55690	PACS1	OMIM:615009
HP:0030962	Abnormal morphology of the great vessels	55690	PACS1	ORPHA:329224
HP:0030962	Abnormal morphology of the great vessels	9200	HACD1	OMIM:619967
HP:0030962	Abnormal morphology of the great vessels	3764	KCNJ8	ORPHA:1517
HP:0030962	Abnormal morphology of the great vessels	10060	ABCC9	ORPHA:1517
HP:0030962	Abnormal morphology of the great vessels	10060	ABCC9	OMIM:239850
HP:0030962	Abnormal morphology of the great vessels	7086	TKT	ORPHA:488618
HP:0030962	Abnormal morphology of the great vessels	7086	TKT	OMIM:617044
HP:0030962	Abnormal morphology of the great vessels	57231	SNX14	ORPHA:397709
HP:0030962	Abnormal morphology of the great vessels	5189	PEX1	OMIM:214100
HP:0030962	Abnormal morphology of the great vessels	25885	POLR1A	OMIM:616462
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:1860
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:93274
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:2363
HP:0030962	Abnormal morphology of the great vessels	7994	KAT6A	ORPHA:457193
HP:0030962	Abnormal morphology of the great vessels	7994	KAT6A	OMIM:616268
HP:0030962	Abnormal morphology of the great vessels	55109	AGGF1	ORPHA:90308
HP:0030962	Abnormal morphology of the great vessels	8726	EED	OMIM:617561
HP:0030962	Abnormal morphology of the great vessels	203286	ANKS6	OMIM:615382
HP:0030962	Abnormal morphology of the great vessels	22884	WDR37	OMIM:618652
HP:0030962	Abnormal morphology of the great vessels	57178	ZMIZ1	OMIM:618659
HP:0030962	Abnormal morphology of the great vessels	8550	MAPKAPK5	OMIM:619869
HP:0030962	Abnormal morphology of the great vessels	5950	RBP4	OMIM:615147
HP:0030962	Abnormal morphology of the great vessels	3782	KCNN3	OMIM:618658
HP:0030962	Abnormal morphology of the great vessels	2296	FOXC1	OMIM:602482
HP:0030962	Abnormal morphology of the great vessels	81794	ADAMTS10	OMIM:277600
HP:0030962	Abnormal morphology of the great vessels	3476	IGBP1	ORPHA:52055
HP:0030962	Abnormal morphology of the great vessels	3476	IGBP1	OMIM:300472
HP:0030962	Abnormal morphology of the great vessels	51604	PIGT	OMIM:615398
HP:0030962	Abnormal morphology of the great vessels	51604	PIGT	ORPHA:369837
HP:0030962	Abnormal morphology of the great vessels	23126	POGZ	OMIM:616364
HP:0030962	Abnormal morphology of the great vessels	54914	FOCAD	OMIM:619991
HP:0030962	Abnormal morphology of the great vessels	213	ALB	OMIM:616000
HP:0030962	Abnormal morphology of the great vessels	57167	SALL4	OMIM:147750
HP:0030962	Abnormal morphology of the great vessels	3481	IGF2	OMIM:616489
HP:0030962	Abnormal morphology of the great vessels	57863	CADM3	OMIM:619519
HP:0030962	Abnormal morphology of the great vessels	286	ANK1	ORPHA:251066
HP:0030962	Abnormal morphology of the great vessels	1859	DYRK1A	ORPHA:464311
HP:0030962	Abnormal morphology of the great vessels	4247	MGAT2	ORPHA:79329
HP:0030962	Abnormal morphology of the great vessels	7750	ZMYM2	OMIM:619522
HP:0030962	Abnormal morphology of the great vessels	79971	WLS	OMIM:619648
HP:0030962	Abnormal morphology of the great vessels	51341	ZBTB7A	OMIM:619769
HP:0030962	Abnormal morphology of the great vessels	775	CACNA1C	OMIM:601005
HP:0030962	Abnormal morphology of the great vessels	79989	IFT56	OMIM:619534
HP:0030962	Abnormal morphology of the great vessels	2303	FOXC2	ORPHA:33001
HP:0030962	Abnormal morphology of the great vessels	2303	FOXC2	OMIM:153400
HP:0030962	Abnormal morphology of the great vessels	79087	ALG12	ORPHA:79324
HP:0030962	Abnormal morphology of the great vessels	79087	ALG12	OMIM:607143
HP:0030962	Abnormal morphology of the great vessels	51117	COQ4	OMIM:616276
HP:0030962	Abnormal morphology of the great vessels	1523	CUX1	OMIM:618330
HP:0030962	Abnormal morphology of the great vessels	27429	HTRA2	OMIM:617248
HP:0030962	Abnormal morphology of the great vessels	5062	PAK2	OMIM:618458
HP:0030962	Abnormal morphology of the great vessels	5062	PAK2	ORPHA:1571
HP:0030962	Abnormal morphology of the great vessels	9949	AMMECR1	OMIM:300990
HP:0030962	Abnormal morphology of the great vessels	9949	AMMECR1	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	10102	TSFM	OMIM:610505
HP:0030962	Abnormal morphology of the great vessels	55315	SLC29A3	OMIM:602782
HP:0030962	Abnormal morphology of the great vessels	7372	UMPS	ORPHA:30
HP:0030962	Abnormal morphology of the great vessels	23395	LARS2	OMIM:617021
HP:0030962	Abnormal morphology of the great vessels	9126	SMC3	OMIM:610759
HP:0030962	Abnormal morphology of the great vessels	79068	FTO	OMIM:612938
HP:0030962	Abnormal morphology of the great vessels	8626	TP63	OMIM:106260
HP:0030962	Abnormal morphology of the great vessels	170302	ARX	ORPHA:452
HP:0030962	Abnormal morphology of the great vessels	4784	NFIX	OMIM:602535
HP:0030962	Abnormal morphology of the great vessels	2530	FUT8	OMIM:618005
HP:0030962	Abnormal morphology of the great vessels	11274	USP18	OMIM:617397
HP:0030962	Abnormal morphology of the great vessels	93166	PRDM6	OMIM:617039
HP:0030962	Abnormal morphology of the great vessels	7703	PCGF2	OMIM:618371
HP:0030962	Abnormal morphology of the great vessels	27031	NPHP3	OMIM:267010
HP:0030962	Abnormal morphology of the great vessels	27031	NPHP3	OMIM:208540
HP:0030962	Abnormal morphology of the great vessels	9496	TBX4	ORPHA:261279
HP:0030962	Abnormal morphology of the great vessels	1760	DMPK	ORPHA:589821
HP:0030962	Abnormal morphology of the great vessels	5277	PIGA	OMIM:300868
HP:0030962	Abnormal morphology of the great vessels	4990	SIX6	OMIM:206900
HP:0030962	Abnormal morphology of the great vessels	6657	SOX2	OMIM:206900
HP:0030962	Abnormal morphology of the great vessels	6657	SOX2	ORPHA:77298
HP:0030962	Abnormal morphology of the great vessels	9321	TRIP11	ORPHA:166272
HP:0030962	Abnormal morphology of the great vessels	54809	SAMD9	OMIM:617053
HP:0030962	Abnormal morphology of the great vessels	57003	CCDC47	OMIM:618268
HP:0030962	Abnormal morphology of the great vessels	57061	HYMAI	ORPHA:96191
HP:0030962	Abnormal morphology of the great vessels	5325	PLAGL1	ORPHA:96191
HP:0030962	Abnormal morphology of the great vessels	64840	PORCN	ORPHA:2092
HP:0030962	Abnormal morphology of the great vessels	348180	CTU2	OMIM:618142
HP:0030962	Abnormal morphology of the great vessels	145173	B3GLCT	OMIM:261540
HP:0030962	Abnormal morphology of the great vessels	145173	B3GLCT	ORPHA:709
HP:0030962	Abnormal morphology of the great vessels	26005	C2CD3	ORPHA:434179
HP:0030962	Abnormal morphology of the great vessels	26005	C2CD3	OMIM:615948
HP:0030962	Abnormal morphology of the great vessels	3248	HPGD	OMIM:259100
HP:0030962	Abnormal morphology of the great vessels	84172	POLR1B	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	9533	POLR1C	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	51082	POLR1D	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	6949	TCOF1	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	7204	TRIO	OMIM:617061
HP:0030962	Abnormal morphology of the great vessels	4841	NONO	OMIM:300967
HP:0030962	Abnormal morphology of the great vessels	4841	NONO	ORPHA:466791
HP:0030962	Abnormal morphology of the great vessels	8239	USP9X	OMIM:300968
HP:0030962	Abnormal morphology of the great vessels	8239	USP9X	ORPHA:480880
HP:0030962	Abnormal morphology of the great vessels	6299	SALL1	ORPHA:857
HP:0030962	Abnormal morphology of the great vessels	51339	DACT1	ORPHA:857
HP:0030962	Abnormal morphology of the great vessels	55252	ASXL2	OMIM:617190
HP:0030962	Abnormal morphology of the great vessels	23387	SIK3	OMIM:618162
HP:0030962	Abnormal morphology of the great vessels	6748	SSR4	ORPHA:370927
HP:0030962	Abnormal morphology of the great vessels	89970	RSPRY1	ORPHA:457395
HP:0030962	Abnormal morphology of the great vessels	5557	PRIM1	OMIM:620005
HP:0030962	Abnormal morphology of the great vessels	23522	KAT6B	ORPHA:3047
HP:0030962	Abnormal morphology of the great vessels	27161	AGO2	OMIM:619149
HP:0030962	Abnormal morphology of the great vessels	10262	SF3B4	OMIM:154400
HP:0030962	Abnormal morphology of the great vessels	55503	TRPV6	OMIM:618188
HP:0030962	Abnormal morphology of the great vessels	57539	WDR35	OMIM:613610
HP:0030962	Abnormal morphology of the great vessels	8496	PPFIBP1	OMIM:620024
HP:0030962	Abnormal morphology of the great vessels	51506	UFC1	OMIM:618076
HP:0030962	Abnormal morphology of the great vessels	4010	LMX1B	ORPHA:495818
HP:0030962	Abnormal morphology of the great vessels	6812	STXBP1	ORPHA:495818
HP:0030962	Abnormal morphology of the great vessels	55249	YY1AP1	ORPHA:79094
HP:0030962	Abnormal morphology of the great vessels	55788	LMBRD1	OMIM:277380
HP:0030962	Abnormal morphology of the great vessels	10225	CD96	OMIM:211750
HP:0030962	Abnormal morphology of the great vessels	57492	ARID1B	OMIM:135900
HP:0030962	Abnormal morphology of the great vessels	57492	ARID1B	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	1889	ECE1	OMIM:613870
HP:0030962	Abnormal morphology of the great vessels	92579	G6PC3	OMIM:612541
HP:0030962	Abnormal morphology of the great vessels	132158	GLYCTK	OMIM:220120
HP:0030962	Abnormal morphology of the great vessels	55148	UBR7	OMIM:619189
HP:0030962	Abnormal morphology of the great vessels	51021	MRPS16	OMIM:610498
HP:0030962	Abnormal morphology of the great vessels	657	BMPR1A	ORPHA:79076
HP:0030962	Abnormal morphology of the great vessels	79053	ALG8	OMIM:608104
HP:0030962	Abnormal morphology of the great vessels	54499	TMCO1	OMIM:213980
HP:0030962	Abnormal morphology of the great vessels	23137	SMC5	OMIM:620185
HP:0030962	Abnormal morphology of the great vessels	79228	THOC6	ORPHA:363444
HP:0030962	Abnormal morphology of the great vessels	79228	THOC6	OMIM:613680
HP:0030962	Abnormal morphology of the great vessels	4094	MAF	ORPHA:1272
HP:0030962	Abnormal morphology of the great vessels	2263	FGFR2	ORPHA:2363
HP:0030962	Abnormal morphology of the great vessels	2255	FGF10	ORPHA:2363
HP:0030962	Abnormal morphology of the great vessels	8813	DPM1	OMIM:608799
HP:0030962	Abnormal morphology of the great vessels	2146	EZH2	OMIM:277590
HP:0030962	Abnormal morphology of the great vessels	8195	MKKS	ORPHA:2473
HP:0030962	Abnormal morphology of the great vessels	157570	ESCO2	OMIM:268300
HP:0030962	Abnormal morphology of the great vessels	11020	IFT27	OMIM:615996
HP:0030962	Abnormal morphology of the great vessels	5648	MASP1	OMIM:257920
HP:0030962	Abnormal morphology of the great vessels	85358	SHANK3	OMIM:606232
HP:0030962	Abnormal morphology of the great vessels	1837	DTNA	OMIM:604169
HP:0030962	Abnormal morphology of the great vessels	113179	ADAT3	ORPHA:363528
HP:0030962	Abnormal morphology of the great vessels	998	CDC42	OMIM:616737
HP:0030962	Abnormal morphology of the great vessels	998	CDC42	ORPHA:487796
HP:0030962	Abnormal morphology of the great vessels	55033	FKBP14	OMIM:614557
HP:0030962	Abnormal morphology of the great vessels	4297	KMT2A	OMIM:605130
HP:0030962	Abnormal morphology of the great vessels	388753	COA6	OMIM:616501
HP:0030962	Abnormal morphology of the great vessels	6598	SMARCB1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6659	SOX4	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	8289	ARID1A	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	5977	DPF2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6601	SMARCC2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6602	SMARCD1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	196528	ARID2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6605	SMARCE1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6664	SOX11	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	51008	ASCC1	OMIM:616867
HP:0030962	Abnormal morphology of the great vessels	9325	TRIP4	OMIM:616866
HP:0030962	Abnormal morphology of the great vessels	57511	COG6	OMIM:614576
HP:0030962	Abnormal morphology of the great vessels	80781	COL18A1	ORPHA:1571
HP:0030962	Abnormal morphology of the great vessels	80781	COL18A1	OMIM:267750
HP:0030962	Abnormal morphology of the great vessels	6638	SNRPN	ORPHA:177907
HP:0030962	Abnormal morphology of the great vessels	59336	PRDM13	OMIM:619909
HP:0030962	Abnormal morphology of the great vessels	60	ACTB	OMIM:243310
HP:0030962	Abnormal morphology of the great vessels	6628	SNRPB	OMIM:117650
HP:0030962	Abnormal morphology of the great vessels	23630	KCNE5	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	2182	ACSL4	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	7291	TWIST1	OMIM:617746
HP:0030962	Abnormal morphology of the great vessels	100506658	OCLN	OMIM:251290
HP:0030962	Abnormal morphology of the great vessels	93649	MYOCD	OMIM:618719
HP:0030962	Abnormal morphology of the great vessels	2767	GNA11	ORPHA:1556
HP:0030962	Abnormal morphology of the great vessels	151188	ARL6IP6	ORPHA:1556
HP:0030962	Abnormal morphology of the great vessels	5331	PLCB3	OMIM:618961
HP:0030962	Abnormal morphology of the great vessels	153241	CEP120	OMIM:616300
HP:0030962	Abnormal morphology of the great vessels	5879	RAC1	OMIM:617751
HP:0030962	Abnormal morphology of the great vessels	5879	RAC1	ORPHA:500159
HP:0030962	Abnormal morphology of the great vessels	5116	PCNT	ORPHA:2637
HP:0030962	Abnormal morphology of the great vessels	9757	KMT2B	OMIM:619934
HP:0030962	Abnormal morphology of the great vessels	84148	KAT8	OMIM:618974
HP:0030962	Abnormal morphology of the great vessels	284086	NEK8	OMIM:615415
HP:0030962	Abnormal morphology of the great vessels	3708	ITPR1	OMIM:206700
HP:0030962	Abnormal morphology of the great vessels	650	BMP2	OMIM:617877
HP:0030962	Abnormal morphology of the great vessels	93	ACVR2B	OMIM:613751
HP:0030962	Abnormal morphology of the great vessels	2627	GATA6	ORPHA:2255
HP:0030962	Abnormal morphology of the great vessels	2627	GATA6	OMIM:600001
HP:0030962	Abnormal morphology of the great vessels	2627	GATA6	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	490	ATP2B1	OMIM:619910
HP:0030962	Abnormal morphology of the great vessels	23389	MED13L	OMIM:616789
HP:0030962	Abnormal morphology of the great vessels	2218	FKTN	OMIM:253800
HP:0030962	Abnormal morphology of the great vessels	6899	TBX1	ORPHA:1727
HP:0030962	Abnormal morphology of the great vessels	6899	TBX1	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	2626	GATA4	ORPHA:251071
HP:0030962	Abnormal morphology of the great vessels	51715	RAB23	OMIM:201000
HP:0030962	Abnormal morphology of the great vessels	54870	QRICH1	OMIM:617982
HP:0030962	Abnormal morphology of the great vessels	1954	MEGF8	OMIM:614976
HP:0030962	Abnormal morphology of the great vessels	220136	CFAP53	OMIM:614779
HP:0030962	Abnormal morphology of the great vessels	2719	GPC3	OMIM:312870
HP:0030962	Abnormal morphology of the great vessels	2239	GPC4	OMIM:312870
HP:0030962	Abnormal morphology of the great vessels	55997	CFC1	OMIM:605376
HP:0030962	Abnormal morphology of the great vessels	26227	PHGDH	OMIM:256520
HP:0030962	Abnormal morphology of the great vessels	3423	IDS	ORPHA:217085
HP:0030962	Abnormal morphology of the great vessels	3423	IDS	ORPHA:217093
HP:0030962	Abnormal morphology of the great vessels	9759	HDAC4	ORPHA:1001
HP:0030962	Abnormal morphology of the great vessels	64359	NXN	ORPHA:1507
HP:0030962	Abnormal morphology of the great vessels	4920	ROR2	ORPHA:1507
HP:0030962	Abnormal morphology of the great vessels	672	BRCA1	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	10459	MAD2L2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	7516	XRCC2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	29089	UBE2T	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	675	BRCA2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55120	FANCL	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2177	FANCD2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2175	FANCA	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2176	FANCC	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2178	FANCE	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2188	FANCF	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2189	FANCG	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	5888	RAD51	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	5889	RAD51C	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55159	RFWD3	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	83990	BRIP1	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	57697	FANCM	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	79728	PALB2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	84464	SLX4	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2072	ERCC4	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55215	FANCI	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	23592	LEMD3	ORPHA:1306
HP:0030962	Abnormal morphology of the great vessels	2737	GLI3	ORPHA:672
HP:0030962	Abnormal morphology of the great vessels	22827	PUF60	ORPHA:508498
HP:0030962	Abnormal morphology of the great vessels	22827	PUF60	ORPHA:508488
HP:0030962	Abnormal morphology of the great vessels	10128	LRPPRC	OMIM:220111
HP:0030962	Abnormal morphology of the great vessels	123606	NIPA1	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	7283	TUBG1	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	81614	NIPA2	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	1024	CDK8	OMIM:618748
HP:0030962	Abnormal morphology of the great vessels	100151683	RNU4ATAC	OMIM:210710
HP:0030962	Abnormal morphology of the great vessels	132	ADK	OMIM:614300
HP:0030962	Abnormal morphology of the great vessels	79813	EHMT1	ORPHA:96147
HP:0030962	Abnormal morphology of the great vessels	10992	SF3B2	OMIM:164210
HP:0030962	Abnormal morphology of the great vessels	6888	TALDO1	ORPHA:101028
HP:0030962	Abnormal morphology of the great vessels	6888	TALDO1	OMIM:606003
HP:0030962	Abnormal morphology of the great vessels	7707	ZNF148	OMIM:617260
HP:0030962	Abnormal morphology of the great vessels	89910	UBE3B	OMIM:244450
HP:0030962	Abnormal morphology of the great vessels	8085	KMT2D	ORPHA:2322
HP:0030962	Abnormal morphology of the great vessels	8085	KMT2D	OMIM:147920
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	ORPHA:2322
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	OMIM:300867
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	OMIM:147920
HP:0030962	Abnormal morphology of the great vessels	5053	PAH	ORPHA:2209
HP:0030962	Abnormal morphology of the great vessels	10735	STAG2	OMIM:301022
HP:0030962	Abnormal morphology of the great vessels	1956	EGFR	OMIM:616069
HP:0030962	Abnormal morphology of the great vessels	146862	UNC45B	OMIM:619178
HP:0030962	Abnormal morphology of the great vessels	1108	CHD4	OMIM:617159
HP:0030962	Abnormal morphology of the great vessels	7026	NR2F2	OMIM:615779
HP:0030962	Abnormal morphology of the great vessels	51057	WDPCP	OMIM:217085
HP:0030962	Abnormal morphology of the great vessels	1000	CDH2	OMIM:618929
HP:0030962	Abnormal morphology of the great vessels	4313	MMP2	ORPHA:371428
HP:0030962	Abnormal morphology of the great vessels	4323	MMP14	ORPHA:371428
HP:0030962	Abnormal morphology of the great vessels	1717	DHCR7	OMIM:270400
HP:0030962	Abnormal morphology of the great vessels	9184	BUB3	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	699	BUB1	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	9702	CEP57	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	9702	CEP57	OMIM:614114
HP:0030962	Abnormal morphology of the great vessels	9319	TRIP13	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	701	BUB1B	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	5745	PTH1R	ORPHA:50945
HP:0030962	Abnormal morphology of the great vessels	4212	MEIS2	OMIM:600987
HP:0030962	Abnormal morphology of the great vessels	8802	SUCLG1	ORPHA:17
HP:0030962	Abnormal morphology of the great vessels	25	ABL1	OMIM:617602
HP:0030962	Abnormal morphology of the great vessels	139285	AMER1	ORPHA:2780
HP:0030962	Abnormal morphology of the great vessels	55644	OSGEP	OMIM:617729
HP:0030962	Abnormal morphology of the great vessels	5826	ABCD4	OMIM:614857
HP:0030962	Abnormal morphology of the great vessels	8883	NAE1	OMIM:620210
HP:0030962	Abnormal morphology of the great vessels	2313	FLI1	ORPHA:2308
HP:0030962	Abnormal morphology of the great vessels	4763	NF1	ORPHA:97685
HP:0030962	Abnormal morphology of the great vessels	10664	CTCF	ORPHA:363611
HP:0030962	Abnormal morphology of the great vessels	10664	CTCF	OMIM:615502
HP:0030962	Abnormal morphology of the great vessels	65250	CPLANE1	OMIM:277170
HP:0030962	Abnormal morphology of the great vessels	3265	HRAS	OMIM:163200
HP:0030962	Abnormal morphology of the great vessels	83475	DOHH	OMIM:620066
HP:0030962	Abnormal morphology of the great vessels	11198	SUPT16H	OMIM:619480
HP:0030962	Abnormal morphology of the great vessels	28514	DLL1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2253	FGF8	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6496	SIX3	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	7050	TGIF1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6469	SHH	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	7546	ZIC2	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6491	STIL	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2619	GAS1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	84976	DISP1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2736	GLI2	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	8928	FOXH1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	5727	PTCH1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	50937	CDON	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	57057	TBX20	OMIM:611363
HP:0030962	Abnormal morphology of the great vessels	51322	WAC	ORPHA:284169
HP:0030962	Abnormal morphology of the great vessels	23483	TGDS	OMIM:616145
HP:0030962	Abnormal morphology of the great vessels	5236	PGM1	OMIM:614921
HP:0030962	Abnormal morphology of the great vessels	9939	RBM8A	OMIM:274000
HP:0030962	Abnormal morphology of the great vessels	6223	RPS19	OMIM:105650
HP:0030962	Abnormal morphology of the great vessels	6223	RPS19	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6135	RPL11	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6138	RPL15	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6229	RPS24	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6125	RPL5	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6204	RPS10	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6224	RPS20	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6165	RPL35A	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6232	RPS27	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6231	RPS26	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	11224	RPL35	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6160	RPL31	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6218	RPS17	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6201	RPS7	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6155	RPL27	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6154	RPL26	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6210	RPS15A	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	90121	TSR2	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6141	RPL18	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6235	RPS29	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6234	RPS28	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	51816	ADA2	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6595	SMARCA2	OMIM:601358
HP:0030962	Abnormal morphology of the great vessels	51626	DYNC2LI1	OMIM:617088
HP:0030962	Abnormal morphology of the great vessels	8295	TRRAP	OMIM:618454
HP:0030962	Abnormal morphology of the great vessels	54903	MKS1	OMIM:249000
HP:0030962	Abnormal morphology of the great vessels	6736	SRY	ORPHA:1772
HP:0030962	Abnormal morphology of the great vessels	9894	TELO2	OMIM:616954
HP:0030962	Abnormal morphology of the great vessels	5604	MAP2K1	OMIM:163950
HP:0030962	Abnormal morphology of the great vessels	673	BRAF	OMIM:163950
HP:0030962	Abnormal morphology of the great vessels	9897	WASHC5	OMIM:220210
HP:0030962	Abnormal morphology of the great vessels	6909	TBX2	OMIM:618223
HP:0030962	Abnormal morphology of the great vessels	23007	PLCH1	OMIM:619895
HP:0030962	Abnormal morphology of the great vessels	5824	PEX19	OMIM:614886
HP:0030962	Abnormal morphology of the great vessels	55191	NADSYN1	OMIM:618845
HP:0030962	Abnormal morphology of the great vessels	526	ATP6V1B2	ORPHA:79500
HP:0030962	Abnormal morphology of the great vessels	57465	TBC1D24	ORPHA:79500
HP:0030962	Abnormal morphology of the great vessels	9451	EIF2AK3	ORPHA:1667
HP:0030962	Abnormal morphology of the great vessels	285590	SH3PXD2B	OMIM:249420
HP:0030962	Abnormal morphology of the great vessels	2074	ERCC6	ORPHA:90324
HP:0030962	Abnormal morphology of the great vessels	1788	DNMT3A	ORPHA:404443
HP:0030962	Abnormal morphology of the great vessels	1278	COL1A2	ORPHA:230851
HP:0030962	Abnormal morphology of the great vessels	51726	DNAJB11	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	23193	GANAB	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	5310	PKD1	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	5311	PKD2	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	29880	ALG5	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	9742	IFT140	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	79796	ALG9	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	80114	BICC1	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	84665	MYPN	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	7169	TPM2	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	7170	TPM3	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	165	AEBP1	OMIM:618000
HP:0030962	Abnormal morphology of the great vessels	165	AEBP1	ORPHA:536532
HP:0030962	Abnormal morphology of the great vessels	5238	PGM3	OMIM:615816
HP:0030962	Abnormal morphology of the great vessels	1290	COL5A2	ORPHA:287
HP:0030962	Abnormal morphology of the great vessels	9469	CHST3	OMIM:245600
HP:0030962	Abnormal morphology of the great vessels	26229	B3GAT3	OMIM:245600
HP:0030962	Abnormal morphology of the great vessels	4883	NPR3	OMIM:619543
HP:0030962	Abnormal morphology of the great vessels	79576	NKAP	OMIM:301039
HP:0030962	Abnormal morphology of the great vessels	833	CARS1	OMIM:618891
HP:0030962	Abnormal morphology of the great vessels	23384	SPECC1L	OMIM:145420
HP:0030962	Abnormal morphology of the great vessels	91754	NEK9	OMIM:617022
HP:0030962	Abnormal morphology of the great vessels	1349	COX7B	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	3052	HCCS	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	54539	NDUFB11	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	5351	PLOD1	ORPHA:1900
HP:0030962	Abnormal morphology of the great vessels	55901	THSD1	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	7049	TGFBR3	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	83854	ANGPTL6	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	2022	ENG	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	OMIM:300998
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	ORPHA:459070
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	ORPHA:435938
HP:0030962	Abnormal morphology of the great vessels	81031	SLC2A10	OMIM:208050
HP:0030962	Abnormal morphology of the great vessels	81031	SLC2A10	ORPHA:3342
HP:0030962	Abnormal morphology of the great vessels	1272	CNTN1	OMIM:612540
HP:0030962	Abnormal morphology of the great vessels	10082	GPC6	OMIM:258315
HP:0030962	Abnormal morphology of the great vessels	64919	BCL11B	OMIM:617237
HP:0030962	Abnormal morphology of the great vessels	22800	RRAS2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	867	CBL	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	8216	LZTR1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6016	RIT1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6237	RRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	5894	RAF1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	22808	MRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	3845	KRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	200734	SPRED2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	4893	NRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6654	SOS1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6655	SOS2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	5781	PTPN11	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	5922	RASA2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	7486	WRN	ORPHA:902
HP:0030962	Abnormal morphology of the great vessels	54361	WNT4	OMIM:611812
HP:0030962	Abnormal morphology of the great vessels	415	ARSL	ORPHA:79345
HP:0030962	Abnormal morphology of the great vessels	10312	TCIRG1	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	1186	CLCN7	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	29887	SNX10	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	8600	TNFSF11	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	5422	POLA1	OMIM:301030
HP:0030962	Abnormal morphology of the great vessels	2623	GATA1	OMIM:190685
HP:0030962	Abnormal morphology of the great vessels	388015	RTL1	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	8788	DLK1	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	55384	MEG3	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	7092	TLL1	ORPHA:99106
HP:0030962	Abnormal morphology of the great vessels	11117	EMILIN1	OMIM:620080
HP:0030962	Abnormal morphology of the great vessels	54538	ROBO4	OMIM:618496
HP:0030962	Abnormal morphology of the great vessels	5337	PLD1	OMIM:212093
HP:0030962	Abnormal morphology of the great vessels	78987	CRELD1	OMIM:606217
HP:0030962	Abnormal morphology of the great vessels	84231	TRAF7	OMIM:618164
HP:0030962	Abnormal morphology of the great vessels	8772	FADD	OMIM:613759
HP:0030962	Abnormal morphology of the great vessels	8772	FADD	ORPHA:306550
HP:0030962	Abnormal morphology of the great vessels	64220	STRA6	OMIM:601186
HP:0030962	Abnormal morphology of the great vessels	6597	SMARCA4	OMIM:614609
HP:0030962	Abnormal morphology of the great vessels	55593	OTUD5	OMIM:301056
HP:0030962	Abnormal morphology of the great vessels	1857	DVL3	OMIM:616894
HP:0030962	Abnormal morphology of the great vessels	9772	TMEM94	OMIM:618316
HP:0030962	Abnormal morphology of the great vessels	9993	DGCR2	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	8220	ESS2	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	8214	DGCR6	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	54487	DGCR8	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	118924	FRA10AC1	OMIM:620113
HP:0030962	Abnormal morphology of the great vessels	3516	RBPJ	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	57514	ARHGAP31	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	57572	DOCK6	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	285203	EOGT	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	54567	DLL4	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	1289	COL5A1	OMIM:619329
HP:0030962	Abnormal morphology of the great vessels	375	ARF1	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	4131	MAP1B	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	23327	NEDD4L	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	160418	TMTC3	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	10564	ARFGEF2	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	55780	ERMARD	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	284058	KANSL1	ORPHA:363958
HP:0030962	Abnormal morphology of the great vessels	284058	KANSL1	ORPHA:363965
HP:0030962	Abnormal morphology of the great vessels	54453	RIN2	OMIM:613075
HP:0030962	Abnormal morphology of the great vessels	54453	RIN2	ORPHA:217335
HP:0030962	Abnormal morphology of the great vessels	23118	TAB2	OMIM:614980
HP:0030962	Abnormal morphology of the great vessels	6711	SPTBN1	OMIM:619475
HP:0030962	Abnormal morphology of the great vessels	29957	SLC25A24	OMIM:612289
HP:0030962	Abnormal morphology of the great vessels	3458	IFNG	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7248	TSC1	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7249	TSC2	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7139	TNNT2	OMIM:612422
HP:0030962	Abnormal morphology of the great vessels	3081	HGD	OMIM:203500
HP:0030962	Abnormal morphology of the great vessels	5728	PTEN	ORPHA:109
HP:0030962	Abnormal morphology of the great vessels	4621	MYH3	ORPHA:2990
HP:0030962	Abnormal morphology of the great vessels	1146	CHRNG	ORPHA:2990
HP:0030962	Abnormal morphology of the great vessels	64127	NOD2	ORPHA:90340
HP:0030962	Abnormal morphology of the great vessels	3190	HNRNPK	ORPHA:352665
HP:0030962	Abnormal morphology of the great vessels	3190	HNRNPK	ORPHA:453504
HP:0030962	Abnormal morphology of the great vessels	64324	NSD1	ORPHA:821
HP:0030962	Abnormal morphology of the great vessels	29072	SETD2	ORPHA:821
HP:0030962	Abnormal morphology of the great vessels	10297	APC2	ORPHA:821
HP:0030962	Abnormal morphology of the great vessels	51611	DPH5	OMIM:620070
HP:0030962	Abnormal morphology of the great vessels	2317	FLNB	OMIM:150250
HP:0030962	Abnormal morphology of the great vessels	4854	NOTCH3	OMIM:130720
HP:0030962	Abnormal morphology of the great vessels	613	BCR	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	1399	CRKL	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	5594	MAPK1	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	1277	COL1A1	OMIM:166200
HP:0030962	Abnormal morphology of the great vessels	113246	C12orf57	OMIM:218340
HP:0030962	Abnormal morphology of the great vessels	2201	FBN2	ORPHA:115
HP:0030962	Abnormal morphology of the great vessels	10491	CRTAP	OMIM:610682
HP:0030962	Abnormal morphology of the great vessels	9839	ZEB2	ORPHA:261537
HP:0030962	Abnormal morphology of the great vessels	9839	ZEB2	ORPHA:261552
HP:0030962	Abnormal morphology of the great vessels	9839	ZEB2	OMIM:235730
HP:0030962	Abnormal morphology of the great vessels	55181	SMG8	OMIM:619268
HP:0030962	Abnormal morphology of the great vessels	4851	NOTCH1	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	1482	NKX2-5	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	140628	GATA5	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	3949	LDLR	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	255738	PCSK9	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	26119	LDLRAP1	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	338	APOB	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	64240	ABCG5	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	64241	ABCG8	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	2629	GBA1	OMIM:231005
HP:0030962	Abnormal morphology of the great vessels	2629	GBA1	ORPHA:2072
HP:0030962	Abnormal morphology of the great vessels	4091	SMAD6	OMIM:614823
HP:0030962	Abnormal morphology of the great vessels	10568	SLC34A2	ORPHA:60025
HP:0030962	Abnormal morphology of the great vessels	10535	RNASEH2A	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	84153	RNASEH2C	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	25939	SAMHD1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	79621	RNASEH2B	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	103	ADAR	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	11277	TREX1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	100147744	RNU7-1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	134353	LSM11	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	64135	IFIH1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	5167	ENPP1	ORPHA:51608
HP:0030962	Abnormal morphology of the great vessels	368	ABCC6	ORPHA:51608
HP:0030962	Abnormal morphology of the great vessels	3977	LIFR	OMIM:601559
HP:0030962	Abnormal morphology of the great vessels	659	BMPR2	OMIM:178600
HP:0030962	Abnormal morphology of the great vessels	57551	TAOK1	OMIM:619575
HP:0030962	Abnormal morphology of the great vessels	182	JAG1	OMIM:617992
HP:0030962	Abnormal morphology of the great vessels	182	JAG1	OMIM:118450
HP:0030962	Abnormal morphology of the great vessels	8260	NAA10	OMIM:300855
HP:0030962	Abnormal morphology of the great vessels	54880	BCOR	ORPHA:2712
HP:0030962	Abnormal morphology of the great vessels	8425	LTBP4	OMIM:613177
HP:0030962	Abnormal morphology of the great vessels	92002	CCNQ	OMIM:300707
HP:0030962	Abnormal morphology of the great vessels	9487	PIGL	OMIM:280000
HP:0030962	Abnormal morphology of the great vessels	5832	ALDH18A1	ORPHA:90348
HP:0030962	Abnormal morphology of the great vessels	4052	LTBP1	ORPHA:90349
HP:0030962	Abnormal morphology of the great vessels	30008	EFEMP2	ORPHA:90349
HP:0030962	Abnormal morphology of the great vessels	6804	STX1A	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	7461	CLIP2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	84277	DNAJC30	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	8468	FKBP6	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	5982	RFC2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	2969	GTF2I	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	3984	LIMK1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	9569	GTF2IRD1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	155382	VPS37D	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	155368	METTL27	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	114049	BUD23	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	7458	EIF4H	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	84163	GTF2IRD2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	9275	BCL7B	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	26608	TBL2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	653361	NCF1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	135886	TMEM270	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	51085	MLXIPL	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	51085	MLXIPL	OMIM:194050
HP:0030962	Abnormal morphology of the great vessels	9031	BAZ1B	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	84720	PIGO	OMIM:614749
HP:0030962	Abnormal morphology of the great vessels	4853	NOTCH2	OMIM:610205
HP:0030962	Abnormal morphology of the great vessels	23556	PIGN	ORPHA:280633
HP:0030962	Abnormal morphology of the great vessels	112752	IFT43	OMIM:614099
HP:0030962	Abnormal morphology of the great vessels	2260	FGFR1	OMIM:613001
HP:0030962	Abnormal morphology of the great vessels	9652	SKIC3	ORPHA:84064
HP:0030962	Abnormal morphology of the great vessels	6499	SKIC2	ORPHA:84064
HP:0030962	Abnormal morphology of the great vessels	5500	PPP1CB	OMIM:617506
HP:0030962	Abnormal morphology of the great vessels	7319	UBE2A	ORPHA:163956
HP:0030962	Abnormal morphology of the great vessels	126792	B3GALT6	ORPHA:536467
HP:0030962	Abnormal morphology of the great vessels	10526	IPO8	OMIM:619472
HP:0030962	Abnormal morphology of the great vessels	2332	FMR1	ORPHA:908
HP:0030962	Abnormal morphology of the great vessels	4000	LMNA	ORPHA:1662
HP:0030962	Abnormal morphology of the great vessels	10269	ZMPSTE24	ORPHA:1662
HP:0030962	Abnormal morphology of the great vessels	9968	MED12	OMIM:309520
HP:0030962	Abnormal morphology of the great vessels	3593	IL12B	ORPHA:3287
HP:0030962	Abnormal morphology of the great vessels	6945	MLX	ORPHA:3287
HP:0030962	Abnormal morphology of the great vessels	171019	ADAMTS19	OMIM:620067
HP:0030962	Abnormal morphology of the great vessels	4838	NODAL	OMIM:270100
HP:0030962	Abnormal morphology of the great vessels	10516	FBLN5	OMIM:219100
HP:0030962	Abnormal morphology of the great vessels	2972	BRF1	ORPHA:444072
HP:0030962	Abnormal morphology of the great vessels	1281	COL3A1	ORPHA:286
HP:0030962	Abnormal morphology of the great vessels	633	BGN	OMIM:300989
HP:0030962	Abnormal morphology of the great vessels	2702	GJA5	OMIM:612474
HP:0030962	Abnormal morphology of the great vessels	2703	GJA8	OMIM:612474
HP:0030962	Abnormal morphology of the great vessels	79875	THSD4	OMIM:619825
HP:0030962	Abnormal morphology of the great vessels	523	ATP6V1A	OMIM:617403
HP:0030962	Abnormal morphology of the great vessels	10293	TRAIP	OMIM:616777
HP:0030962	Abnormal morphology of the great vessels	10157	AASS	ORPHA:2203
HP:0030962	Abnormal morphology of the great vessels	4625	MYH7	OMIM:613426
HP:0030962	Abnormal morphology of the great vessels	4256	MGP	OMIM:245150
HP:0030962	Abnormal morphology of the great vessels	118856	MMP21	OMIM:616749
HP:0030962	Abnormal morphology of the great vessels	28952	CCDC22	OMIM:300963
HP:0030962	Abnormal morphology of the great vessels	286053	NSMCE2	OMIM:617253
HP:0030962	Abnormal morphology of the great vessels	3756	KCNH1	OMIM:135500
HP:0030962	Abnormal morphology of the great vessels	5590	PRKCZ	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	2563	GABRD	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	23013	SPEN	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	8510	MMP23B	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	7798	LUZP1	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	6497	SKI	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	10630	PDPN	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	3339	HSPG2	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	10277	UBE4B	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	8514	KCNAB2	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	473	RERE	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	63976	PRDM16	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	54897	CASZ1	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	55636	CHD7	ORPHA:138
HP:0030962	Abnormal morphology of the great vessels	9723	SEMA3E	ORPHA:138
HP:0030962	Abnormal morphology of the great vessels	128	ADH5	OMIM:619151
HP:0030962	Abnormal morphology of the great vessels	2294	FOXF1	OMIM:265380
HP:0030962	Abnormal morphology of the great vessels	7490	WT1	OMIM:608978
HP:0030962	Abnormal morphology of the great vessels	1387	CREBBP	OMIM:180849
HP:0030962	Abnormal morphology of the great vessels	2033	EP300	OMIM:180849
HP:0030962	Abnormal morphology of the great vessels	54916	TMEM260	OMIM:617478
HP:0030962	Abnormal morphology of the great vessels	25981	DNAH1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	115948	ODAD3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54768	HYDIN	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	352909	DNAAF3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	27148	STK36	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	51314	NME8	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	92749	DRC1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54970	TTC12	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	152110	NEK10	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	8481	OFD1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	2302	FOXJ1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	221421	RSPH9	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	85478	CCDC65	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	55036	CCDC40	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	51364	ZMYND10	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	64446	DNAI2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	6674	SPAG1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83544	DNAL1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	89765	RSPH1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83538	ODAD4	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	200373	CFAP221	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	374407	DNAJB13	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	55172	DNAAF2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	161582	DNAAF4	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	2622	GAS8	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	23639	DNAAF11	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	27019	DNAI1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	345895	RSPH4A	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54919	DNAAF5	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	6103	RPGR	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	388389	CCDC103	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	93233	ODAD1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	93233	ODAD1	OMIM:615067
HP:0030962	Abnormal morphology of the great vessels	55130	ODAD2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	1767	DNAH5	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83861	RSPH3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	345643	MCIDAS	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	56683	CFAP298	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	79925	SPEF2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	10309	CCNO	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	115399	LRRC56	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	139212	DNAAF6	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	123872	DNAAF1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	85016	CFAP300	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	339829	CCDC39	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	8701	DNAH11	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	246176	GAS2L2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	10743	RAI1	ORPHA:477817
HP:0030962	Abnormal morphology of the great vessels	10847	SRCAP	OMIM:136140
HP:0030962	Abnormal morphology of the great vessels	10847	SRCAP	ORPHA:2044
HP:0030962	Abnormal morphology of the great vessels	2187	FANCB	OMIM:314390
HP:0030962	Abnormal morphology of the great vessels	7547	ZIC3	OMIM:314390
HP:0030962	Abnormal morphology of the great vessels	374879	ZNF699	OMIM:619488
HP:0030962	Abnormal morphology of the great vessels	7386	UQCRFS1	OMIM:618775
HP:0030962	Abnormal morphology of the great vessels	1822	ATN1	OMIM:618494
HP:0030962	Abnormal morphology of the great vessels	4281	MID1	ORPHA:2745
HP:0030962	Abnormal morphology of the great vessels	2783	GNB2	OMIM:619503
HP:0030962	Abnormal morphology of the great vessels	1161	ERCC8	OMIM:216400
HP:0030962	Abnormal morphology of the great vessels	8241	RBM10	ORPHA:2886
HP:0030962	Abnormal morphology of the great vessels	340419	RSPO2	OMIM:618021
HP:0030962	Abnormal morphology of the great vessels	10283	CWC27	ORPHA:166035
HP:0030962	Abnormal morphology of the great vessels	440275	EIF2AK4	OMIM:234810
HP:0030962	Abnormal morphology of the great vessels	1718	DHCR24	ORPHA:35107
HP:0030962	Abnormal morphology of the great vessels	6910	TBX5	ORPHA:392
HP:0030962	Abnormal morphology of the great vessels	10370	CITED2	OMIM:614433
HP:0030962	Abnormal morphology of the great vessels	10370	CITED2	ORPHA:99105
HP:0030962	Abnormal morphology of the great vessels	27125	AFF4	OMIM:616368
HP:0030962	Abnormal morphology of the great vessels	134701	RIPPLY2	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	10683	DLL3	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	3955	LFNG	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	84667	HES7	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	145873	MESP2	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	745	MYRF	OMIM:618280
HP:0030962	Abnormal morphology of the great vessels	8243	SMC1A	OMIM:301044
HP:0030962	Abnormal morphology of the great vessels	5296	PIK3R2	OMIM:603387
HP:0030962	Abnormal morphology of the great vessels	100128908	CIROP	OMIM:619702
HP:0030962	Abnormal morphology of the great vessels	1770	DNAH9	OMIM:618300
HP:0030962	Abnormal morphology of the great vessels	129563	DIS3L2	OMIM:267000
HP:0030962	Abnormal morphology of the great vessels	4613	MYCN	ORPHA:391641
HP:0030962	Abnormal morphology of the great vessels	4613	MYCN	OMIM:164280
HP:0030962	Abnormal morphology of the great vessels	56006	SMG9	OMIM:616920
HP:0030962	Abnormal morphology of the great vessels	2316	FLNA	OMIM:304120
HP:0030962	Abnormal morphology of the great vessels	5718	PSMD12	ORPHA:529962
HP:0030962	Abnormal morphology of the great vessels	2186	BPTF	ORPHA:529962
HP:0030962	Abnormal morphology of the great vessels	6651	SON	ORPHA:500150
HP:0030962	Abnormal morphology of the great vessels	808	CALM3	OMIM:618782
HP:0030962	Abnormal morphology of the great vessels	54892	NCAPG2	OMIM:618460
HP:0030962	Abnormal morphology of the great vessels	55784	MCTP2	ORPHA:1596
HP:0030962	Abnormal morphology of the great vessels	26191	PTPN22	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	3106	HLA-B	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	3123	HLA-DRB1	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	8974	P4HA2	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	137814	NKX2-6	ORPHA:3384
HP:0030962	Abnormal morphology of the great vessels	23129	PLXND1	ORPHA:3384
HP:0030962	Abnormal morphology of the great vessels	81857	MED25	ORPHA:464738
HP:0030962	Abnormal morphology of the great vessels	5567	PRKACB	OMIM:619143
HP:0030962	Abnormal morphology of the great vessels	51780	KDM3B	OMIM:618846
HP:0030962	Abnormal morphology of the great vessels	64093	SMOC1	OMIM:206920
HP:0030962	Abnormal morphology of the great vessels	80232	WDR26	ORPHA:513456
HP:0030962	Abnormal morphology of the great vessels	80232	WDR26	OMIM:617616
HP:0030962	Abnormal morphology of the great vessels	1312	COMT	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	221037	JMJD1C	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	2812	GP1BB	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	6239	RREB1	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	7290	HIRA	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	9632	SEC24C	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	7353	UFD1	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	421	ARVCF	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	6885	MAP3K7	OMIM:157800
HP:0030962	Abnormal morphology of the great vessels	2697	GJA1	ORPHA:2248
HP:0030962	Abnormal morphology of the great vessels	5518	PPP2R1A	ORPHA:457284
HP:0030962	Abnormal morphology of the great vessels	10195	ALG3	ORPHA:79321
HP:0030962	Abnormal morphology of the great vessels	348	APOE	ORPHA:412
HP:0030962	Abnormal morphology of the great vessels	1581	CYP7A1	ORPHA:209902
HP:0030962	Abnormal morphology of the great vessels	5580	PRKCD	OMIM:615559
HP:0030962	Abnormal morphology of the great vessels	8314	BAP1	ORPHA:50251
HP:0030962	Abnormal morphology of the great vessels	58499	ZNF462	OMIM:618619
HP:0030962	Abnormal morphology of the great vessels	7528	YY1	OMIM:617557
HP:0030962	Abnormal morphology of the great vessels	168507	PKD1L1	OMIM:617205
HP:0030962	Abnormal morphology of the great vessels	8854	ALDH1A2	OMIM:620025
HP:0030962	Abnormal morphology of the great vessels	2324	FLT4	OMIM:618780
HP:0030962	Abnormal morphology of the great vessels	2657	GDF1	OMIM:208530
HP:0030962	Abnormal morphology of the great vessels	6439	SFTPB	OMIM:265120
HP:0030962	Abnormal morphology of the great vessels	4629	MYH11	ORPHA:229
HP:0030962	Abnormal morphology of the great vessels	4629	MYH11	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7046	TGFBR1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7048	TGFBR2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4015	LOX	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4087	SMAD2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7043	TGFB3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4088	SMAD3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7042	TGFB2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4089	SMAD4	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	2200	FBN1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	59	ACTA2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	5592	PRKG1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	2301	FOXE3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4144	MAT2A	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	23493	HEY2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	8076	MFAP5	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4638	MYLK	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	2006	ELN	ORPHA:91387
HP:0030966	Abnormal pulmonary artery morphology	9968	MED12	OMIM:301068
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	OMIM:300998
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	ORPHA:459070
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	ORPHA:435938
HP:0030966	Abnormal pulmonary artery morphology	81031	SLC2A10	OMIM:208050
HP:0030966	Abnormal pulmonary artery morphology	81031	SLC2A10	ORPHA:3342
HP:0030966	Abnormal pulmonary artery morphology	1272	CNTN1	OMIM:612540
HP:0030966	Abnormal pulmonary artery morphology	10082	GPC6	OMIM:258315
HP:0030966	Abnormal pulmonary artery morphology	64919	BCL11B	OMIM:617237
HP:0030966	Abnormal pulmonary artery morphology	2627	GATA6	ORPHA:2255
HP:0030966	Abnormal pulmonary artery morphology	2627	GATA6	OMIM:600001
HP:0030966	Abnormal pulmonary artery morphology	22800	RRAS2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	867	CBL	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	8216	LZTR1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6016	RIT1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6237	RRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5894	RAF1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	22808	MRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	3845	KRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	200734	SPRED2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	4893	NRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6654	SOS1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6655	SOS2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5781	PTPN11	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5922	RASA2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	7486	WRN	ORPHA:902
HP:0030966	Abnormal pulmonary artery morphology	54361	WNT4	OMIM:611812
HP:0030966	Abnormal pulmonary artery morphology	415	ARSL	ORPHA:79345
HP:0030966	Abnormal pulmonary artery morphology	10312	TCIRG1	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	1186	CLCN7	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	29887	SNX10	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	8600	TNFSF11	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	2626	GATA4	ORPHA:251071
HP:0030966	Abnormal pulmonary artery morphology	5422	POLA1	OMIM:301030
HP:0030966	Abnormal pulmonary artery morphology	2623	GATA1	OMIM:190685
HP:0030966	Abnormal pulmonary artery morphology	93233	ODAD1	OMIM:615067
HP:0030966	Abnormal pulmonary artery morphology	388015	RTL1	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	8788	DLK1	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	55384	MEG3	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	2294	FOXF1	OMIM:265380
HP:0030966	Abnormal pulmonary artery morphology	30008	EFEMP2	OMIM:614437
HP:0030966	Abnormal pulmonary artery morphology	59	ACTA2	OMIM:613834
HP:0030966	Abnormal pulmonary artery morphology	171019	ADAMTS19	OMIM:620067
HP:0030966	Abnormal pulmonary artery morphology	79989	IFT56	OMIM:619534
HP:0030966	Abnormal pulmonary artery morphology	2200	FBN1	OMIM:154700
HP:0030966	Abnormal pulmonary artery morphology	7092	TLL1	ORPHA:99106
HP:0030966	Abnormal pulmonary artery morphology	5337	PLD1	OMIM:212093
HP:0030966	Abnormal pulmonary artery morphology	78987	CRELD1	OMIM:606217
HP:0030966	Abnormal pulmonary artery morphology	84231	TRAF7	OMIM:618164
HP:0030966	Abnormal pulmonary artery morphology	2324	FLT4	OMIM:618780
HP:0030966	Abnormal pulmonary artery morphology	2657	GDF1	OMIM:208530
HP:0030966	Abnormal pulmonary artery morphology	2657	GDF1	OMIM:613854
HP:0030966	Abnormal pulmonary artery morphology	93	ACVR2B	OMIM:613751
HP:0030966	Abnormal pulmonary artery morphology	1482	NKX2-5	OMIM:108900
HP:0030966	Abnormal pulmonary artery morphology	8772	FADD	OMIM:613759
HP:0030966	Abnormal pulmonary artery morphology	8772	FADD	ORPHA:306550
HP:0030966	Abnormal pulmonary artery morphology	4838	NODAL	OMIM:270100
HP:0030966	Abnormal pulmonary artery morphology	64220	STRA6	OMIM:601186
HP:0030966	Abnormal pulmonary artery morphology	6597	SMARCA4	OMIM:614609
HP:0030966	Abnormal pulmonary artery morphology	55593	OTUD5	OMIM:301056
HP:0030966	Abnormal pulmonary artery morphology	1857	DVL3	OMIM:616894
HP:0030966	Abnormal pulmonary artery morphology	168507	PKD1L1	OMIM:617205
HP:0030966	Abnormal pulmonary artery morphology	55636	CHD7	OMIM:214800
HP:0030966	Abnormal pulmonary artery morphology	9772	TMEM94	OMIM:618316
HP:0030966	Abnormal pulmonary artery morphology	100128908	CIROP	OMIM:619702
HP:0030966	Abnormal pulmonary artery morphology	9993	DGCR2	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	8220	ESS2	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	8214	DGCR6	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	54487	DGCR8	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	6899	TBX1	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	118924	FRA10AC1	OMIM:620113
HP:0030966	Abnormal pulmonary artery morphology	3516	RBPJ	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	4851	NOTCH1	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	57514	ARHGAP31	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	57572	DOCK6	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	285203	EOGT	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	54567	DLL4	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	7046	TGFBR1	OMIM:609192
HP:0030966	Abnormal pulmonary artery morphology	7048	TGFBR2	OMIM:610168
HP:0030966	Abnormal pulmonary artery morphology	1281	COL3A1	ORPHA:286
HP:0030966	Abnormal pulmonary artery morphology	1289	COL5A1	OMIM:619329
HP:0030966	Abnormal pulmonary artery morphology	633	BGN	OMIM:300989
HP:0030966	Abnormal pulmonary artery morphology	10526	IPO8	OMIM:619472
HP:0030966	Abnormal pulmonary artery morphology	10491	CRTAP	OMIM:610682
HP:0030966	Abnormal pulmonary artery morphology	9839	ZEB2	ORPHA:261537
HP:0030966	Abnormal pulmonary artery morphology	9839	ZEB2	ORPHA:261552
HP:0030966	Abnormal pulmonary artery morphology	9839	ZEB2	OMIM:235730
HP:0030966	Abnormal pulmonary artery morphology	55181	SMG8	OMIM:619268
HP:0030966	Abnormal pulmonary artery morphology	3977	LIFR	OMIM:601559
HP:0030966	Abnormal pulmonary artery morphology	57551	TAOK1	OMIM:619575
HP:0030966	Abnormal pulmonary artery morphology	182	JAG1	OMIM:617992
HP:0030966	Abnormal pulmonary artery morphology	182	JAG1	OMIM:118450
HP:0030966	Abnormal pulmonary artery morphology	8260	NAA10	OMIM:300855
HP:0030966	Abnormal pulmonary artery morphology	54880	BCOR	ORPHA:2712
HP:0030966	Abnormal pulmonary artery morphology	8425	LTBP4	OMIM:613177
HP:0030966	Abnormal pulmonary artery morphology	92002	CCNQ	OMIM:300707
HP:0030966	Abnormal pulmonary artery morphology	9487	PIGL	OMIM:280000
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN	ORPHA:90348
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN	OMIM:123700
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN	OMIM:194050
HP:0030966	Abnormal pulmonary artery morphology	10516	FBLN5	ORPHA:90348
HP:0030966	Abnormal pulmonary artery morphology	10516	FBLN5	ORPHA:90349
HP:0030966	Abnormal pulmonary artery morphology	5832	ALDH18A1	ORPHA:90348
HP:0030966	Abnormal pulmonary artery morphology	4052	LTBP1	ORPHA:90349
HP:0030966	Abnormal pulmonary artery morphology	6804	STX1A	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	7461	CLIP2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84277	DNAJC30	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	8468	FKBP6	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	5982	RFC2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	2969	GTF2I	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	3984	LIMK1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	9569	GTF2IRD1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	155382	VPS37D	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	155368	METTL27	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	114049	BUD23	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	7458	EIF4H	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84163	GTF2IRD2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	9275	BCL7B	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	26608	TBL2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	653361	NCF1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	135886	TMEM270	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	51085	MLXIPL	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	51085	MLXIPL	OMIM:194050
HP:0030966	Abnormal pulmonary artery morphology	9031	BAZ1B	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84720	PIGO	OMIM:614749
HP:0030966	Abnormal pulmonary artery morphology	4853	NOTCH2	OMIM:610205
HP:0030966	Abnormal pulmonary artery morphology	23556	PIGN	ORPHA:280633
HP:0030966	Abnormal pulmonary artery morphology	112752	IFT43	OMIM:614099
HP:0030966	Abnormal pulmonary artery morphology	2260	FGFR1	OMIM:613001
HP:0030966	Abnormal pulmonary artery morphology	9652	SKIC3	ORPHA:84064
HP:0030966	Abnormal pulmonary artery morphology	6499	SKIC2	ORPHA:84064
HP:0030966	Abnormal pulmonary artery morphology	5500	PPP1CB	OMIM:617506
HP:0030966	Abnormal pulmonary artery morphology	7319	UBE2A	ORPHA:163956
HP:0030966	Abnormal pulmonary artery morphology	10293	TRAIP	OMIM:616777
HP:0030966	Abnormal pulmonary artery morphology	10157	AASS	ORPHA:2203
HP:0030966	Abnormal pulmonary artery morphology	4625	MYH7	OMIM:613426
HP:0030966	Abnormal pulmonary artery morphology	137814	NKX2-6	ORPHA:3384
HP:0030966	Abnormal pulmonary artery morphology	23129	PLXND1	ORPHA:3384
HP:0030966	Abnormal pulmonary artery morphology	8854	ALDH1A2	OMIM:620025
HP:0030966	Abnormal pulmonary artery morphology	4256	MGP	OMIM:245150
HP:0030966	Abnormal pulmonary artery morphology	118856	MMP21	OMIM:616749
HP:0030966	Abnormal pulmonary artery morphology	28952	CCDC22	OMIM:300963
HP:0030966	Abnormal pulmonary artery morphology	659	BMPR2	OMIM:178600
HP:0030967	Abnormal pulmonary artery physiology	659	BMPR2	OMIM:178600
HP:0030968	Abnormal pulmonary vein morphology	7547	ZIC3	OMIM:306955
HP:0030968	Abnormal pulmonary vein morphology	6210	RPS15A	OMIM:618313
HP:0030968	Abnormal pulmonary vein morphology	123606	NIPA1	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	7283	TUBG1	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	81614	NIPA2	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	998	CDC42	ORPHA:487796
HP:0030968	Abnormal pulmonary vein morphology	93	ACVR2B	OMIM:613751
HP:0030968	Abnormal pulmonary vein morphology	220136	CFAP53	OMIM:614779
HP:0030968	Abnormal pulmonary vein morphology	2719	GPC3	OMIM:312870
HP:0030968	Abnormal pulmonary vein morphology	2239	GPC4	OMIM:312870
HP:0030968	Abnormal pulmonary vein morphology	118856	MMP21	OMIM:616749
HP:0030968	Abnormal pulmonary vein morphology	10491	CRTAP	OMIM:610682
HP:0030968	Abnormal pulmonary vein morphology	2657	GDF1	OMIM:613854
HP:0030968	Abnormal pulmonary vein morphology	340419	RSPO2	OMIM:618021
HP:0030968	Abnormal pulmonary vein morphology	659	BMPR2	OMIM:265450
HP:0030968	Abnormal pulmonary vein morphology	440275	EIF2AK4	OMIM:234810
HP:0030968	Abnormal pulmonary vein morphology	25981	DNAH1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	115948	ODAD3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54768	HYDIN	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	352909	DNAAF3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	27148	STK36	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	51314	NME8	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	92749	DRC1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54970	TTC12	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	152110	NEK10	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	8481	OFD1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	2302	FOXJ1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	221421	RSPH9	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	85478	CCDC65	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55036	CCDC40	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	51364	ZMYND10	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	64446	DNAI2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	6674	SPAG1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83544	DNAL1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	89765	RSPH1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83538	ODAD4	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	200373	CFAP221	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	374407	DNAJB13	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55172	DNAAF2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	161582	DNAAF4	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	2622	GAS8	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	23639	DNAAF11	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	27019	DNAI1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	345895	RSPH4A	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54919	DNAAF5	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	6103	RPGR	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	388389	CCDC103	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	93233	ODAD1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55130	ODAD2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	1767	DNAH5	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83861	RSPH3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	345643	MCIDAS	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	56683	CFAP298	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	79925	SPEF2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	10309	CCNO	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	115399	LRRC56	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	139212	DNAAF6	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	123872	DNAAF1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	85016	CFAP300	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	339829	CCDC39	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	8701	DNAH11	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	1770	DNAH9	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	246176	GAS2L2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	1718	DHCR24	ORPHA:35107
HP:0030968	Abnormal pulmonary vein morphology	6910	TBX5	ORPHA:392
HP:0030968	Abnormal pulmonary vein morphology	10370	CITED2	OMIM:614433
HP:0030968	Abnormal pulmonary vein morphology	10370	CITED2	ORPHA:99105
HP:0030968	Abnormal pulmonary vein morphology	27125	AFF4	OMIM:616368
HP:0030968	Abnormal pulmonary vein morphology	134701	RIPPLY2	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	10683	DLL3	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	3955	LFNG	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	84667	HES7	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	145873	MESP2	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	745	MYRF	OMIM:618280
HP:0030968	Abnormal pulmonary vein morphology	9968	MED12	OMIM:301068
HP:0030968	Abnormal pulmonary vein morphology	2294	FOXF1	OMIM:265380
HP:0030968	Abnormal pulmonary vein morphology	7490	WT1	OMIM:608978
HP:0030968	Abnormal pulmonary vein morphology	8243	SMC1A	OMIM:301044
HP:0030968	Abnormal pulmonary vein morphology	2623	GATA1	OMIM:190685
HP:0030968	Abnormal pulmonary vein morphology	54916	TMEM260	OMIM:617478
HP:0030968	Abnormal pulmonary vein morphology	4087	SMAD2	OMIM:619657
HP:0030968	Abnormal pulmonary vein morphology	100128908	CIROP	OMIM:619702
HP:0030968	Abnormal pulmonary vein morphology	4838	NODAL	OMIM:270100
HP:0030968	Abnormal pulmonary vein morphology	145173	B3GLCT	ORPHA:709
HP:0030968	Abnormal pulmonary vein morphology	6439	SFTPB	OMIM:265120
HP:0010620	Malar prominence	4683	NBN	OMIM:251260
HP:0010620	Malar prominence	81887	LAS1L	ORPHA:3459
HP:0010620	Malar prominence	55869	HDAC8	ORPHA:3459
HP:0010620	Malar prominence	9150	CTDP1	OMIM:604168
HP:0010620	Malar prominence	9150	CTDP1	ORPHA:48431
HP:0010620	Malar prominence	286053	NSMCE2	ORPHA:436182
HP:0010620	Malar prominence	7518	XRCC4	ORPHA:436182
HP:0010620	Malar prominence	3043	HBB	ORPHA:231226
HP:0010620	Malar prominence	3043	HBB	ORPHA:231214
HP:0010533	Spasmus nutans	6323	SCN1A	OMIM:619317
HP:0010538	Small sella turcica	89884	LHX4	OMIM:262700
HP:0010538	Small sella turcica	652	BMP4	OMIM:607932
HP:0010538	Small sella turcica	8260	NAA10	OMIM:300855
HP:0010539	Thin calvarium	5159	PDGFRB	OMIM:601812
HP:0010532	Paroxysmal vertigo	6326	SCN2A	OMIM:618924
HP:0010532	Paroxysmal vertigo	7428	VHL	ORPHA:29072
HP:0010532	Paroxysmal vertigo	7428	VHL	ORPHA:276621
HP:0010532	Paroxysmal vertigo	1743	DLST	ORPHA:29072
HP:0010532	Paroxysmal vertigo	4191	MDH2	ORPHA:29072
HP:0010532	Paroxysmal vertigo	5979	RET	ORPHA:29072
HP:0010532	Paroxysmal vertigo	5979	RET	ORPHA:276621
HP:0010532	Paroxysmal vertigo	6389	SDHA	ORPHA:29072
HP:0010532	Paroxysmal vertigo	23095	KIF1B	ORPHA:29072
HP:0010532	Paroxysmal vertigo	2271	FH	ORPHA:29072
HP:0010532	Paroxysmal vertigo	8402	SLC25A11	ORPHA:29072
HP:0010532	Paroxysmal vertigo	54949	SDHAF2	ORPHA:29072
HP:0010532	Paroxysmal vertigo	55654	TMEM127	ORPHA:29072
HP:0010532	Paroxysmal vertigo	4763	NF1	ORPHA:29072
HP:0010532	Paroxysmal vertigo	6391	SDHC	ORPHA:29072
HP:0010532	Paroxysmal vertigo	6392	SDHD	ORPHA:29072
HP:0010532	Paroxysmal vertigo	6392	SDHD	ORPHA:276621
HP:0010532	Paroxysmal vertigo	6390	SDHB	ORPHA:29072
HP:0010532	Paroxysmal vertigo	6390	SDHB	ORPHA:276621
HP:0010532	Paroxysmal vertigo	4149	MAX	ORPHA:29072
HP:0010532	Paroxysmal vertigo	1788	DNMT3A	ORPHA:276621
HP:0010532	Paroxysmal vertigo	2034	EPAS1	ORPHA:276621
HP:0010532	Paroxysmal vertigo	785	CACNB4	OMIM:607682
HP:0010531	Spinal myoclonus	1813	DRD2	ORPHA:36899
HP:0010531	Spinal myoclonus	8910	SGCE	ORPHA:36899
HP:0010531	Spinal myoclonus	79734	KCTD17	ORPHA:36899
HP:0010531	Spinal myoclonus	1861	TOR1A	ORPHA:36899
HP:0010530	Palatal tremor	1593	CYP27A1	ORPHA:909
HP:0010530	Palatal tremor	2670	GFAP	OMIM:203450
HP:0010530	Palatal tremor	2670	GFAP	ORPHA:363717
HP:0010530	Palatal tremor	2670	GFAP	ORPHA:363722
HP:0010530	Palatal tremor	2512	FTL	ORPHA:157846
HP:0010537	Wide cranial sutures	183	AGT	OMIM:267430
HP:0010537	Wide cranial sutures	5972	REN	OMIM:267430
HP:0010537	Wide cranial sutures	185	AGTR1	OMIM:267430
HP:0010537	Wide cranial sutures	1636	ACE	OMIM:267430
HP:0010537	Wide cranial sutures	249	ALPL	OMIM:241500
HP:0010537	Wide cranial sutures	1594	CYP27B1	OMIM:264700
HP:0010537	Wide cranial sutures	142680	SLC34A3	OMIM:241530
HP:0010537	Wide cranial sutures	7421	VDR	OMIM:277440
HP:0010537	Wide cranial sutures	9968	MED12	ORPHA:93932
HP:0010537	Wide cranial sutures	4000	LMNA	ORPHA:1662
HP:0010537	Wide cranial sutures	10269	ZMPSTE24	ORPHA:1662
HP:0010537	Wide cranial sutures	4488	MSX2	OMIM:168550
HP:0010537	Wide cranial sutures	120227	CYP2R1	OMIM:600081
HP:0010537	Wide cranial sutures	26040	SETBP1	OMIM:269150
HP:0010537	Wide cranial sutures	11128	POLR3A	OMIM:264090
HP:0010537	Wide cranial sutures	11128	POLR3A	ORPHA:3455
HP:0010537	Wide cranial sutures	5189	PEX1	OMIM:214100
HP:0010537	Wide cranial sutures	8241	RBM10	ORPHA:2886
HP:0010537	Wide cranial sutures	9896	FIG4	OMIM:216340
HP:0010537	Wide cranial sutures	9896	FIG4	ORPHA:3472
HP:0010537	Wide cranial sutures	55697	VAC14	ORPHA:3472
HP:0010537	Wide cranial sutures	9871	SEC24D	OMIM:616294
HP:0010537	Wide cranial sutures	27161	AGO2	OMIM:619149
HP:0010537	Wide cranial sutures	55503	TRPV6	OMIM:618188
HP:0010537	Wide cranial sutures	10491	CRTAP	OMIM:610682
HP:0010537	Wide cranial sutures	8815	BANF1	OMIM:614008
HP:0010537	Wide cranial sutures	79633	FAT4	OMIM:615546
HP:0010537	Wide cranial sutures	8642	DCHS1	OMIM:601390
HP:0010537	Wide cranial sutures	5832	ALDH18A1	OMIM:219150
HP:0010537	Wide cranial sutures	2697	GJA1	OMIM:257850
HP:0010537	Wide cranial sutures	4313	MMP2	OMIM:259600
HP:0010536	Central sleep apnea	55768	NGLY1	OMIM:615273
HP:0010536	Central sleep apnea	57003	CCDC47	OMIM:618268
HP:0010536	Central sleep apnea	51604	PIGT	ORPHA:369837
HP:0010536	Central sleep apnea	22943	DKK1	ORPHA:268882
HP:0010536	Central sleep apnea	7874	USP7	OMIM:616863
HP:0010536	Central sleep apnea	133686	NADK2	ORPHA:431361
HP:0010536	Central sleep apnea	54551	MAGEL2	ORPHA:398069
HP:0010536	Central sleep apnea	775	CACNA1C	OMIM:620029
HP:0010536	Central sleep apnea	23219	FBXO28	OMIM:619777
HP:0010536	Central sleep apnea	27235	COQ2	ORPHA:227510
HP:0010536	Central sleep apnea	27235	COQ2	ORPHA:98933
HP:0010536	Central sleep apnea	10128	LRPPRC	ORPHA:70472
HP:0010536	Central sleep apnea	2261	FGFR3	ORPHA:15
HP:0010536	Central sleep apnea	5631	PRPS1	ORPHA:423479
HP:0010536	Central sleep apnea	8621	CDK13	OMIM:617360
HP:0010536	Central sleep apnea	6492	SIM1	ORPHA:398079
HP:0010536	Central sleep apnea	60482	SLC5A7	ORPHA:98914
HP:0010536	Central sleep apnea	4649	MYO9A	ORPHA:98914
HP:0010536	Central sleep apnea	1305	COL13A1	ORPHA:98914
HP:0010536	Central sleep apnea	1103	CHAT	ORPHA:98914
HP:0010536	Central sleep apnea	6576	SLC25A1	ORPHA:98914
HP:0010536	Central sleep apnea	6843	VAMP1	ORPHA:98914
HP:0010536	Central sleep apnea	375790	AGRN	ORPHA:98914
HP:0010536	Central sleep apnea	127833	SYT2	ORPHA:98914
HP:0010536	Central sleep apnea	6572	SLC18A3	ORPHA:98914
HP:0010536	Central sleep apnea	6616	SNAP25	ORPHA:98914
HP:0010536	Central sleep apnea	8911	CACNA1I	OMIM:620114
HP:0010536	Central sleep apnea	5979	RET	ORPHA:99803
HP:0010536	Central sleep apnea	429	ASCL1	ORPHA:99803
HP:0010536	Central sleep apnea	8929	PHOX2B	ORPHA:99803
HP:0010535	Sleep apnea	8367	H4C5	OMIM:619950
HP:0010535	Sleep apnea	57003	CCDC47	OMIM:618268
HP:0010535	Sleep apnea	1763	DNA2	OMIM:615156
HP:0010535	Sleep apnea	1763	DNA2	ORPHA:352470
HP:0010535	Sleep apnea	23126	POGZ	OMIM:616364
HP:0010535	Sleep apnea	23126	POGZ	ORPHA:468678
HP:0010535	Sleep apnea	51604	PIGT	ORPHA:369837
HP:0010535	Sleep apnea	1387	CREBBP	OMIM:180849
HP:0010535	Sleep apnea	1387	CREBBP	ORPHA:353281
HP:0010535	Sleep apnea	1387	CREBBP	ORPHA:353277
HP:0010535	Sleep apnea	2033	EP300	OMIM:180849
HP:0010535	Sleep apnea	2033	EP300	ORPHA:353284
HP:0010535	Sleep apnea	59341	TRPV4	OMIM:606071
HP:0010535	Sleep apnea	7015	TERT	OMIM:614742
HP:0010535	Sleep apnea	23314	SATB2	ORPHA:251028
HP:0010535	Sleep apnea	775	CACNA1C	OMIM:620029
HP:0010535	Sleep apnea	8087	FXR1	OMIM:618822
HP:0010535	Sleep apnea	8087	FXR1	OMIM:618823
HP:0010535	Sleep apnea	1756	DMD	OMIM:310200
HP:0010535	Sleep apnea	259232	NALCN	ORPHA:371364
HP:0010535	Sleep apnea	285175	UNC80	ORPHA:371364
HP:0010535	Sleep apnea	781	CACNA2D1	OMIM:620149
HP:0010535	Sleep apnea	10128	LRPPRC	ORPHA:70472
HP:0010535	Sleep apnea	2887	GRB10	ORPHA:96182
HP:0010535	Sleep apnea	51611	DPH5	OMIM:620070
HP:0010535	Sleep apnea	5575	PRKAR1B	OMIM:619680
HP:0010535	Sleep apnea	6452	SH3BP2	ORPHA:184
HP:0010535	Sleep apnea	4854	NOTCH3	OMIM:130720
HP:0010535	Sleep apnea	7750	ZMYM2	OMIM:619522
HP:0010535	Sleep apnea	9578	CDC42BPB	OMIM:619841
HP:0010535	Sleep apnea	283489	CHAMP1	OMIM:616579
HP:0010535	Sleep apnea	27245	AHDC1	ORPHA:412069
HP:0010535	Sleep apnea	27245	AHDC1	OMIM:615829
HP:0010535	Sleep apnea	6492	SIM1	ORPHA:398079
HP:0010535	Sleep apnea	60482	SLC5A7	ORPHA:98914
HP:0010535	Sleep apnea	4649	MYO9A	ORPHA:98914
HP:0010535	Sleep apnea	1305	COL13A1	ORPHA:98914
HP:0010535	Sleep apnea	1103	CHAT	ORPHA:98914
HP:0010535	Sleep apnea	6576	SLC25A1	ORPHA:98914
HP:0010535	Sleep apnea	6843	VAMP1	ORPHA:98914
HP:0010535	Sleep apnea	375790	AGRN	ORPHA:98914
HP:0010535	Sleep apnea	127833	SYT2	ORPHA:98914
HP:0010535	Sleep apnea	6572	SLC18A3	ORPHA:98914
HP:0010535	Sleep apnea	6616	SNAP25	ORPHA:98914
HP:0010535	Sleep apnea	55768	NGLY1	ORPHA:404454
HP:0010535	Sleep apnea	6638	SNRPN	ORPHA:98754
HP:0010535	Sleep apnea	6638	SNRPN	ORPHA:177904
HP:0010535	Sleep apnea	6638	SNRPN	ORPHA:177901
HP:0010535	Sleep apnea	4692	NDN	ORPHA:98754
HP:0010535	Sleep apnea	4692	NDN	ORPHA:177904
HP:0010535	Sleep apnea	4692	NDN	ORPHA:177901
HP:0010535	Sleep apnea	54551	MAGEL2	ORPHA:98754
HP:0010535	Sleep apnea	54551	MAGEL2	ORPHA:177904
HP:0010535	Sleep apnea	54551	MAGEL2	ORPHA:177901
HP:0010535	Sleep apnea	54551	MAGEL2	ORPHA:398069
HP:0010535	Sleep apnea	4948	OCA2	ORPHA:98754
HP:0010535	Sleep apnea	4948	OCA2	ORPHA:177904
HP:0010535	Sleep apnea	4948	OCA2	ORPHA:177901
HP:0010535	Sleep apnea	79158	GNPTAB	ORPHA:576
HP:0010535	Sleep apnea	23299	BICD2	OMIM:615290
HP:0010535	Sleep apnea	6497	SKI	OMIM:182212
HP:0010535	Sleep apnea	4841	NONO	ORPHA:466791
HP:0010535	Sleep apnea	4784	NFIX	OMIM:602535
HP:0010535	Sleep apnea	8888	MCM3AP	OMIM:618124
HP:0010535	Sleep apnea	112939	NACC1	OMIM:617393
HP:0010535	Sleep apnea	3423	IDS	OMIM:309900
HP:0010535	Sleep apnea	650	BMP2	OMIM:617877
HP:0010535	Sleep apnea	57479	PRR12	OMIM:619539
HP:0010535	Sleep apnea	2990	GUSB	OMIM:253220
HP:0010535	Sleep apnea	23219	FBXO28	OMIM:619777
HP:0010535	Sleep apnea	1513	CTSK	ORPHA:763
HP:0010535	Sleep apnea	2261	FGFR3	ORPHA:15
HP:0010535	Sleep apnea	7703	PCGF2	OMIM:618371
HP:0010535	Sleep apnea	9401	RECQL4	OMIM:218600
HP:0010535	Sleep apnea	171023	ASXL1	ORPHA:97297
HP:0010535	Sleep apnea	4340	MOG	OMIM:614250
HP:0010535	Sleep apnea	372	ARCN1	OMIM:617164
HP:0010535	Sleep apnea	2902	GRIN1	OMIM:614254
HP:0010535	Sleep apnea	1822	ATN1	OMIM:618494
HP:0010535	Sleep apnea	1642	DDB1	OMIM:619426
HP:0010535	Sleep apnea	55770	EXOC2	OMIM:619306
HP:0010535	Sleep apnea	1906	EDN1	ORPHA:137888
HP:0010535	Sleep apnea	5332	PLCB4	ORPHA:137888
HP:0010535	Sleep apnea	2773	GNAI3	ORPHA:137888
HP:0010535	Sleep apnea	9230	RAB11B	OMIM:617807
HP:0010535	Sleep apnea	3265	HRAS	OMIM:218040
HP:0010535	Sleep apnea	3425	IDUA	OMIM:607016
HP:0010535	Sleep apnea	3425	IDUA	OMIM:607015
HP:0010535	Sleep apnea	760	CA2	ORPHA:2785
HP:0010535	Sleep apnea	7291	TWIST1	ORPHA:794
HP:0010535	Sleep apnea	2263	FGFR2	ORPHA:794
HP:0010535	Sleep apnea	2263	FGFR2	OMIM:123500
HP:0010535	Sleep apnea	2615	LRRC32	OMIM:619074
HP:0010535	Sleep apnea	6197	RPS6KA3	ORPHA:192
HP:0010535	Sleep apnea	54892	NCAPG2	OMIM:618460
HP:0010535	Sleep apnea	2132	EXT2	OMIM:616682
HP:0010535	Sleep apnea	26005	C2CD3	ORPHA:434179
HP:0010535	Sleep apnea	27125	AFF4	OMIM:616368
HP:0010535	Sleep apnea	27125	AFF4	ORPHA:444077
HP:0010535	Sleep apnea	4720	NDUFS2	OMIM:618228
HP:0010535	Sleep apnea	10060	ABCC9	OMIM:619719
HP:0010535	Sleep apnea	8405	SPOP	OMIM:618829
HP:0010535	Sleep apnea	7681	MKRN3	OMIM:176270
HP:0010535	Sleep apnea	3653	IPW	OMIM:176270
HP:0010535	Sleep apnea	791114	PWRN1	OMIM:176270
HP:0010535	Sleep apnea	100033413	SNORD116-1	OMIM:176270
HP:0010535	Sleep apnea	8924	HERC2	OMIM:176270
HP:0010535	Sleep apnea	145624	PWAR1	OMIM:176270
HP:0010535	Sleep apnea	23742	NPAP1	OMIM:176270
HP:0010535	Sleep apnea	338433	SNORD115-1	OMIM:176270
HP:0010535	Sleep apnea	6925	TCF4	ORPHA:2896
HP:0010535	Sleep apnea	411	ARSB	OMIM:253200
HP:0010535	Sleep apnea	91942	NDUFAF2	OMIM:618233
HP:0010535	Sleep apnea	6857	SYT1	ORPHA:522077
HP:0010535	Sleep apnea	6857	SYT1	OMIM:618218
HP:0010535	Sleep apnea	2934	GSN	ORPHA:85448
HP:0010535	Sleep apnea	65993	MRPS34	OMIM:617664
HP:0010535	Sleep apnea	9442	MED27	OMIM:619286
HP:0010535	Sleep apnea	473	RERE	OMIM:616975
HP:0010535	Sleep apnea	9702	CEP57	OMIM:614114
HP:0010535	Sleep apnea	477	ATP1A2	OMIM:619605
HP:0010535	Sleep apnea	8292	COLQ	ORPHA:98915
HP:0010535	Sleep apnea	3913	LAMB2	ORPHA:98915
HP:0010535	Sleep apnea	51341	ZBTB7A	OMIM:619769
HP:0010535	Sleep apnea	10743	RAI1	ORPHA:1713
HP:0010535	Sleep apnea	403	ARL3	OMIM:618161
HP:0010535	Sleep apnea	7259	TSPYL1	ORPHA:168593
HP:0010535	Sleep apnea	10020	GNE	OMIM:269921
HP:0010535	Sleep apnea	10020	GNE	ORPHA:3166
HP:0010535	Sleep apnea	738	VPS51	OMIM:618606
HP:0010535	Sleep apnea	201163	FLCN	OMIM:610883
HP:0010535	Sleep apnea	51574	LARP7	ORPHA:319671
HP:0010535	Sleep apnea	27286	SRPX2	ORPHA:1945
HP:0010535	Sleep apnea	2903	GRIN2A	ORPHA:1945
HP:0010535	Sleep apnea	2566	GABRG2	ORPHA:1945
HP:0010535	Sleep apnea	83550	GPR101	ORPHA:963
HP:0010535	Sleep apnea	83550	GPR101	OMIM:300942
HP:0010535	Sleep apnea	9049	AIP	ORPHA:963
HP:0010535	Sleep apnea	1281	COL3A1	ORPHA:286
HP:0010535	Sleep apnea	54681	P4HTM	OMIM:618493
HP:0010535	Sleep apnea	860	RUNX2	ORPHA:1452
HP:0010535	Sleep apnea	25942	SIN3A	OMIM:613406
HP:0010535	Sleep apnea	6647	SOD1	OMIM:105400
HP:0010535	Sleep apnea	5630	PRPH	OMIM:105400
HP:0010535	Sleep apnea	1639	DCTN1	OMIM:105400
HP:0010535	Sleep apnea	4744	NEFH	OMIM:105400
HP:0010535	Sleep apnea	54496	PRMT7	ORPHA:464288
HP:0010535	Sleep apnea	1801	DPH1	ORPHA:459061
HP:0010535	Sleep apnea	4054	LTBP3	OMIM:617809
HP:0010535	Sleep apnea	1499	CTNNB1	ORPHA:54595
HP:0010535	Sleep apnea	673	BRAF	ORPHA:54595
HP:0010535	Sleep apnea	22943	DKK1	ORPHA:268882
HP:0010535	Sleep apnea	7874	USP7	OMIM:616863
HP:0010535	Sleep apnea	133686	NADK2	ORPHA:431361
HP:0010535	Sleep apnea	27235	COQ2	ORPHA:227510
HP:0010535	Sleep apnea	27235	COQ2	ORPHA:98933
HP:0010535	Sleep apnea	5631	PRPS1	ORPHA:423479
HP:0010535	Sleep apnea	8621	CDK13	OMIM:617360
HP:0010535	Sleep apnea	8911	CACNA1I	OMIM:620114
HP:0010535	Sleep apnea	5979	RET	ORPHA:99803
HP:0010535	Sleep apnea	429	ASCL1	ORPHA:99803
HP:0010535	Sleep apnea	8929	PHOX2B	ORPHA:99803
HP:0010534	Transient global amnesia	8314	BAP1	ORPHA:2495
HP:0010534	Transient global amnesia	4771	NF2	ORPHA:2495
HP:0010534	Transient global amnesia	6598	SMARCB1	ORPHA:2495
HP:0010534	Transient global amnesia	5155	PDGFB	ORPHA:2495
HP:0010534	Transient global amnesia	84231	TRAF7	ORPHA:2495
HP:0010534	Transient global amnesia	6608	SMO	ORPHA:2495
HP:0010534	Transient global amnesia	207	AKT1	ORPHA:2495
HP:0010534	Transient global amnesia	5290	PIK3CA	ORPHA:2495
HP:0010534	Transient global amnesia	7015	TERT	ORPHA:2495
HP:0010534	Transient global amnesia	51684	SUFU	ORPHA:2495
HP:0010534	Transient global amnesia	6605	SMARCE1	ORPHA:2495
HP:0010534	Transient global amnesia	4221	MEN1	ORPHA:97279
HP:0010534	Transient global amnesia	7528	YY1	ORPHA:97279
HP:0010534	Transient global amnesia	1512	CTSH	ORPHA:2073
HP:0010534	Transient global amnesia	5032	P2RY11	ORPHA:2073
HP:0010534	Transient global amnesia	4340	MOG	ORPHA:2073
HP:0010534	Transient global amnesia	3119	HLA-DQB1	ORPHA:2073
HP:0010534	Transient global amnesia	3060	HCRT	ORPHA:2073
HP:0010534	Transient global amnesia	22891	ZNF365	ORPHA:2073
HP:0010534	Transient global amnesia	7292	TNFSF4	ORPHA:2073
HP:0010534	Transient global amnesia	3123	HLA-DRB1	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	51726	DNAJB11	OMIM:618061
HP:0030972	Abnormal systemic blood pressure	51726	DNAJB11	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	10128	LRPPRC	OMIM:220111
HP:0030972	Abnormal systemic blood pressure	875	CBS	ORPHA:394
HP:0030972	Abnormal systemic blood pressure	63036	CELA2A	OMIM:618620
HP:0030972	Abnormal systemic blood pressure	776	CACNA1D	OMIM:615474
HP:0030972	Abnormal systemic blood pressure	776	CACNA1D	ORPHA:369929
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:1885
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:2833
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	OMIM:616914
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	54507	ADAMTSL4	ORPHA:1885
HP:0030972	Abnormal systemic blood pressure	4010	LMX1B	ORPHA:2613
HP:0030972	Abnormal systemic blood pressure	57539	WDR35	OMIM:613610
HP:0030972	Abnormal systemic blood pressure	63924	CIDEC	OMIM:615238
HP:0030972	Abnormal systemic blood pressure	123263	MTFMT	OMIM:614947
HP:0030972	Abnormal systemic blood pressure	3291	HSD11B2	OMIM:218030
HP:0030972	Abnormal systemic blood pressure	3291	HSD11B2	ORPHA:320
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	OMIM:232220
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	OMIM:232240
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	ORPHA:79259
HP:0030972	Abnormal systemic blood pressure	81839	VANGL1	ORPHA:3027
HP:0030972	Abnormal systemic blood pressure	80199	FUZ	ORPHA:3027
HP:0030972	Abnormal systemic blood pressure	2072	ERCC4	ORPHA:90321
HP:0030972	Abnormal systemic blood pressure	2072	ERCC4	OMIM:610965
HP:0030972	Abnormal systemic blood pressure	5447	POR	ORPHA:95699
HP:0030972	Abnormal systemic blood pressure	5447	POR	OMIM:201750
HP:0030972	Abnormal systemic blood pressure	23607	CD2AP	OMIM:607832
HP:0030972	Abnormal systemic blood pressure	3162	HMOX1	OMIM:614034
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	OMIM:202010
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	ORPHA:90795
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	ORPHA:403
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	OMIM:103900
HP:0030972	Abnormal systemic blood pressure	4552	MTRR	ORPHA:2169
HP:0030972	Abnormal systemic blood pressure	55249	YY1AP1	ORPHA:79094
HP:0030972	Abnormal systemic blood pressure	50940	PDE11A	OMIM:610475
HP:0030972	Abnormal systemic blood pressure	50940	PDE11A	ORPHA:189439
HP:0030972	Abnormal systemic blood pressure	50940	PDE11A	ORPHA:1359
HP:0030972	Abnormal systemic blood pressure	23592	LEMD3	ORPHA:1879
HP:0030972	Abnormal systemic blood pressure	23592	LEMD3	ORPHA:1306
HP:0030972	Abnormal systemic blood pressure	1586	CYP17A1	ORPHA:90793
HP:0030972	Abnormal systemic blood pressure	1586	CYP17A1	OMIM:202110
HP:0030972	Abnormal systemic blood pressure	23193	GANAB	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	23193	GANAB	OMIM:600666
HP:0030972	Abnormal systemic blood pressure	5310	PKD1	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	5310	PKD1	OMIM:173900
HP:0030972	Abnormal systemic blood pressure	5311	PKD2	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	5311	PKD2	OMIM:613095
HP:0030972	Abnormal systemic blood pressure	29880	ALG5	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	29880	ALG5	OMIM:620056
HP:0030972	Abnormal systemic blood pressure	9742	IFT140	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	9742	IFT140	OMIM:266920
HP:0030972	Abnormal systemic blood pressure	79796	ALG9	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	80114	BICC1	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	4512	MT-CO1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4513	MT-CO2	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4514	MT-CO3	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4519	MT-CYB	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4511	MT-TC	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4574	MT-TS1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4575	MT-TS2	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4558	MT-TF	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4541	MT-ND6	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4567	MT-TL1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4567	MT-TL1	ORPHA:225
HP:0030972	Abnormal systemic blood pressure	4540	MT-ND5	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4566	MT-TK	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4566	MT-TK	ORPHA:225
HP:0030972	Abnormal systemic blood pressure	4566	MT-TK	ORPHA:1349
HP:0030972	Abnormal systemic blood pressure	4535	MT-ND1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4572	MT-TQ	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4577	MT-TV	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4578	MT-TW	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	ORPHA:87
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	OMIM:123790
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	ORPHA:1555
HP:0030972	Abnormal systemic blood pressure	3043	HBB	OMIM:603903
HP:0030972	Abnormal systemic blood pressure	3190	HNRNPK	OMIM:616580
HP:0030972	Abnormal systemic blood pressure	3766	KCNJ10	OMIM:612780
HP:0030972	Abnormal systemic blood pressure	3423	IDS	ORPHA:217085
HP:0030972	Abnormal systemic blood pressure	3423	IDS	ORPHA:217093
HP:0030972	Abnormal systemic blood pressure	2538	G6PC1	OMIM:232200
HP:0030972	Abnormal systemic blood pressure	6327	SCN2B	OMIM:615378
HP:0030972	Abnormal systemic blood pressure	284252	KCTD1	ORPHA:2036
HP:0030972	Abnormal systemic blood pressure	284252	KCTD1	OMIM:181270
HP:0030972	Abnormal systemic blood pressure	6773	STAT2	OMIM:618886
HP:0030972	Abnormal systemic blood pressure	5468	PPARG	ORPHA:79083
HP:0030972	Abnormal systemic blood pressure	5468	PPARG	OMIM:604367
HP:0030972	Abnormal systemic blood pressure	9149	DYRK1B	OMIM:615812
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:79084
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	OMIM:151660
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:79474
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:740
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:363618
HP:0030972	Abnormal systemic blood pressure	5346	PLIN1	OMIM:613877
HP:0030972	Abnormal systemic blood pressure	5346	PLIN1	ORPHA:280356
HP:0030972	Abnormal systemic blood pressure	84100	ARL6	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	84100	ARL6	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	79140	CCDC28B	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	582	BBS1	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	582	BBS1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	OMIM:610489
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	ORPHA:189439
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	ORPHA:1359
HP:0030972	Abnormal systemic blood pressure	79184	BRCC3	ORPHA:280679
HP:0030972	Abnormal systemic blood pressure	7490	WT1	OMIM:194080
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:347
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:220
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	83550	GPR101	ORPHA:963
HP:0030972	Abnormal systemic blood pressure	9049	AIP	ORPHA:963
HP:0030972	Abnormal systemic blood pressure	9049	AIP	OMIM:102200
HP:0030972	Abnormal systemic blood pressure	9049	AIP	OMIM:219090
HP:0030972	Abnormal systemic blood pressure	2332	FMR1	ORPHA:93256
HP:0030972	Abnormal systemic blood pressure	2332	FMR1	ORPHA:449291
HP:0030972	Abnormal systemic blood pressure	84133	ZNRF3	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7157	TP53	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7157	TP53	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	1499	CTNNB1	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	1029	CDKN2A	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7015	TERT	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	1181	CLCN2	OMIM:605635
HP:0030972	Abnormal systemic blood pressure	1181	CLCN2	ORPHA:404
HP:0030972	Abnormal systemic blood pressure	4313	MMP2	ORPHA:371428
HP:0030972	Abnormal systemic blood pressure	4323	MMP14	ORPHA:371428
HP:0030972	Abnormal systemic blood pressure	5139	PDE3A	OMIM:112410
HP:0030972	Abnormal systemic blood pressure	5139	PDE3A	ORPHA:1276
HP:0030972	Abnormal systemic blood pressure	1717	DHCR7	OMIM:270400
HP:0030972	Abnormal systemic blood pressure	1281	COL3A1	ORPHA:286
HP:0030972	Abnormal systemic blood pressure	1281	COL3A1	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	9896	FIG4	ORPHA:3472
HP:0030972	Abnormal systemic blood pressure	55697	VAC14	ORPHA:3472
HP:0030972	Abnormal systemic blood pressure	64127	NOD2	OMIM:186580
HP:0030972	Abnormal systemic blood pressure	64127	NOD2	ORPHA:90340
HP:0030972	Abnormal systemic blood pressure	54968	TMEM70	OMIM:614052
HP:0030972	Abnormal systemic blood pressure	659	BMPR2	OMIM:178600
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	OMIM:208000
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	ORPHA:51608
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	ORPHA:758
HP:0030972	Abnormal systemic blood pressure	9860	LRIG2	ORPHA:2704
HP:0030972	Abnormal systemic blood pressure	60495	HPSE2	ORPHA:2704
HP:0030972	Abnormal systemic blood pressure	595	CCND1	OMIM:193300
HP:0030972	Abnormal systemic blood pressure	595	CCND1	ORPHA:892
HP:0030972	Abnormal systemic blood pressure	84984	CEP19	OMIM:615703
HP:0030972	Abnormal systemic blood pressure	84984	CEP19	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	4582	MUC1	OMIM:174000
HP:0030972	Abnormal systemic blood pressure	54	ACP5	ORPHA:1855
HP:0030972	Abnormal systemic blood pressure	4069	LYZ	OMIM:105200
HP:0030972	Abnormal systemic blood pressure	2243	FGA	OMIM:105200
HP:0030972	Abnormal systemic blood pressure	335	APOA1	OMIM:105200
HP:0030972	Abnormal systemic blood pressure	567	B2M	OMIM:105200
HP:0030972	Abnormal systemic blood pressure	10019	SH2B3	OMIM:133100
HP:0030972	Abnormal systemic blood pressure	2057	EPOR	OMIM:133100
HP:0030972	Abnormal systemic blood pressure	92482	BBIP1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80184	CEP290	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80184	CEP290	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	11020	IFT27	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	49855	SCAPER	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	OMIM:256100
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	51057	WDPCP	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	27241	BBS9	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	22954	TRIM32	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	54903	MKS1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	79738	BBS10	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	123016	TTC8	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	26160	IFT172	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	583	BBS2	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	585	BBS4	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	8195	MKKS	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	54585	LZTFL1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	55212	BBS7	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	166379	BBS12	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	10806	SDCCAG8	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	10806	SDCCAG8	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	157657	CFAP418	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	129880	BBS5	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80173	IFT74	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	7809	BSND	ORPHA:89938
HP:0030972	Abnormal systemic blood pressure	1188	CLCNKB	ORPHA:89938
HP:0030972	Abnormal systemic blood pressure	1187	CLCNKA	ORPHA:89938
HP:0030972	Abnormal systemic blood pressure	5566	PRKACA	OMIM:615830
HP:0030972	Abnormal systemic blood pressure	5566	PRKACA	ORPHA:189439
HP:0030972	Abnormal systemic blood pressure	8622	PDE8B	ORPHA:189439
HP:0030972	Abnormal systemic blood pressure	6804	STX1A	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	7461	CLIP2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	84277	DNAJC30	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	8468	FKBP6	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	5982	RFC2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	2969	GTF2I	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	3984	LIMK1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	9569	GTF2IRD1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	155382	VPS37D	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	155368	METTL27	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	114049	BUD23	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	7458	EIF4H	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	84163	GTF2IRD2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	9275	BCL7B	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	26608	TBL2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	653361	NCF1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	135886	TMEM270	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	9031	BAZ1B	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	79798	ARMC5	OMIM:615954
HP:0030972	Abnormal systemic blood pressure	79798	ARMC5	ORPHA:189427
HP:0030972	Abnormal systemic blood pressure	8364	H4C3	OMIM:619758
HP:0030972	Abnormal systemic blood pressure	81031	SLC2A10	ORPHA:3342
HP:0030972	Abnormal systemic blood pressure	81031	SLC2A10	OMIM:208050
HP:0030972	Abnormal systemic blood pressure	1493	CTLA4	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	26191	PTPN22	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	3115	HLA-DPB1	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	5657	PRTN3	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	3113	HLA-DPA1	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	7486	WRN	ORPHA:902
HP:0030972	Abnormal systemic blood pressure	4556	MT-TE	ORPHA:225
HP:0030972	Abnormal systemic blood pressure	4040	LRP6	OMIM:610947
HP:0030972	Abnormal systemic blood pressure	5244	ABCB4	ORPHA:69663
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	OMIM:615962
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	ORPHA:786
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	50485	SMARCAL1	ORPHA:1830
HP:0030972	Abnormal systemic blood pressure	50485	SMARCAL1	OMIM:242900
HP:0030972	Abnormal systemic blood pressure	4982	TNFRSF11B	ORPHA:2801
HP:0030972	Abnormal systemic blood pressure	8792	TNFRSF11A	ORPHA:2801
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	ORPHA:189427
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	ORPHA:79443
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	OMIM:219080
HP:0030972	Abnormal systemic blood pressure	8481	OFD1	OMIM:311200
HP:0030972	Abnormal systemic blood pressure	8481	OFD1	ORPHA:2750
HP:0030972	Abnormal systemic blood pressure	64135	IFIH1	OMIM:615846
HP:0030972	Abnormal systemic blood pressure	866	SERPINA6	OMIM:611489
HP:0030972	Abnormal systemic blood pressure	10253	SPRY2	OMIM:616818
HP:0030972	Abnormal systemic blood pressure	1482	NKX2-5	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	140628	GATA5	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	4091	SMAD6	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	4205	MEF2A	OMIM:608320
HP:0030972	Abnormal systemic blood pressure	38	ACAT1	ORPHA:134
HP:0030972	Abnormal systemic blood pressure	4854	NOTCH3	ORPHA:136
HP:0030972	Abnormal systemic blood pressure	7355	SLC35A2	OMIM:300896
HP:0030972	Abnormal systemic blood pressure	2717	GLA	OMIM:301500
HP:0030972	Abnormal systemic blood pressure	2717	GLA	ORPHA:324
HP:0030972	Abnormal systemic blood pressure	4193	MDM2	OMIM:618681
HP:0030972	Abnormal systemic blood pressure	10463	SLC30A9	OMIM:617595
HP:0030972	Abnormal systemic blood pressure	3762	KCNJ5	OMIM:613677
HP:0030972	Abnormal systemic blood pressure	3762	KCNJ5	ORPHA:251274
HP:0030972	Abnormal systemic blood pressure	50628	GEMIN4	OMIM:617913
HP:0030972	Abnormal systemic blood pressure	3458	IFNG	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	7248	TSC1	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	7249	TSC2	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	3081	HGD	ORPHA:56
HP:0030972	Abnormal systemic blood pressure	11277	TREX1	ORPHA:247691
HP:0030972	Abnormal systemic blood pressure	3991	LIPE	OMIM:615980
HP:0030972	Abnormal systemic blood pressure	667	DST	OMIM:614653
HP:0030972	Abnormal systemic blood pressure	51025	PAM16	OMIM:613320
HP:0030972	Abnormal systemic blood pressure	51134	CEP83	OMIM:615862
HP:0030972	Abnormal systemic blood pressure	3075	CFH	OMIM:235400
HP:0030972	Abnormal systemic blood pressure	3078	CFHR1	OMIM:235400
HP:0030972	Abnormal systemic blood pressure	10878	CFHR3	OMIM:235400
HP:0030972	Abnormal systemic blood pressure	5076	PAX2	ORPHA:97362
HP:0030972	Abnormal systemic blood pressure	5076	PAX2	OMIM:120330
HP:0030972	Abnormal systemic blood pressure	5087	PBX1	ORPHA:97362
HP:0030972	Abnormal systemic blood pressure	286053	NSMCE2	OMIM:617253
HP:0030972	Abnormal systemic blood pressure	2982	GUCY1A1	OMIM:615750
HP:0030972	Abnormal systemic blood pressure	2982	GUCY1A1	ORPHA:401945
HP:0030972	Abnormal systemic blood pressure	4160	MC4R	ORPHA:71529
HP:0030972	Abnormal systemic blood pressure	100151683	RNU4ATAC	OMIM:210710
HP:0030972	Abnormal systemic blood pressure	65062	TMEM237	OMIM:614424
HP:0030972	Abnormal systemic blood pressure	3875	KRT18	OMIM:215600
HP:0030972	Abnormal systemic blood pressure	4179	CD46	OMIM:612922
HP:0030972	Abnormal systemic blood pressure	629	CFB	OMIM:612924
HP:0030972	Abnormal systemic blood pressure	3426	CFI	OMIM:612923
HP:0030972	Abnormal systemic blood pressure	10058	ABCB6	ORPHA:90044
HP:0030972	Abnormal systemic blood pressure	7056	THBD	OMIM:612926
HP:0030972	Abnormal systemic blood pressure	718	C3	OMIM:612925
HP:0030972	Abnormal systemic blood pressure	26580	BSCL2	ORPHA:363400
HP:0030972	Abnormal systemic blood pressure	23395	LARS2	OMIM:617021
HP:0030972	Abnormal systemic blood pressure	6340	SCNN1G	OMIM:618114
HP:0030972	Abnormal systemic blood pressure	6340	SCNN1G	ORPHA:526
HP:0030972	Abnormal systemic blood pressure	10229	COQ7	OMIM:616733
HP:0030972	Abnormal systemic blood pressure	137682	NDUFAF6	OMIM:618913
HP:0030972	Abnormal systemic blood pressure	8912	CACNA1H	OMIM:617027
HP:0030972	Abnormal systemic blood pressure	1287	COL4A5	OMIM:301050
HP:0030972	Abnormal systemic blood pressure	5978	REST	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	129563	DIS3L2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	675	BRCA2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	9319	TRIP13	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	10155	TRIM28	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	11281	POU6F2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	2719	GPC3	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	283120	H19	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	3949	LDLR	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	255738	PCSK9	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	26119	LDLRAP1	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	338	APOB	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	64240	ABCG5	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	64241	ABCG8	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	4784	NFIX	OMIM:602535
HP:0030972	Abnormal systemic blood pressure	84196	USP48	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	9101	USP8	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	9101	USP8	OMIM:219090
HP:0030972	Abnormal systemic blood pressure	64072	CDH23	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	64072	CDH23	ORPHA:91347
HP:0030972	Abnormal systemic blood pressure	673	BRAF	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	546	ATRX	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	6337	SCNN1A	OMIM:618126
HP:0030972	Abnormal systemic blood pressure	6337	SCNN1A	ORPHA:526
HP:0030972	Abnormal systemic blood pressure	1956	EGFR	OMIM:616069
HP:0030972	Abnormal systemic blood pressure	50619	DEF6	OMIM:619573
HP:0030972	Abnormal systemic blood pressure	64423	INF2	OMIM:613237
HP:0030972	Abnormal systemic blood pressure	3913	LAMB2	OMIM:609049
HP:0030972	Abnormal systemic blood pressure	5277	PIGA	ORPHA:447
HP:0030972	Abnormal systemic blood pressure	4306	NR3C2	OMIM:605115
HP:0030972	Abnormal systemic blood pressure	5498	PPOX	ORPHA:79473
HP:0030972	Abnormal systemic blood pressure	55644	OSGEP	OMIM:617729
HP:0030972	Abnormal systemic blood pressure	27130	INVS	OMIM:602088
HP:0030972	Abnormal systemic blood pressure	27130	INVS	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	2328	FMO3	OMIM:602079
HP:0030972	Abnormal systemic blood pressure	1589	CYP21A2	OMIM:201910
HP:0030972	Abnormal systemic blood pressure	7225	TRPC6	OMIM:603965
HP:0030972	Abnormal systemic blood pressure	6338	SCNN1B	OMIM:177200
HP:0030972	Abnormal systemic blood pressure	6338	SCNN1B	ORPHA:526
HP:0030972	Abnormal systemic blood pressure	4625	MYH7	ORPHA:437572
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	ORPHA:51608
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	OMIM:614473
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	ORPHA:758
HP:0030972	Abnormal systemic blood pressure	2643	GCH1	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	4929	NR4A2	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	3615	IMPDH2	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	1285	COL4A3	OMIM:203780
HP:0030972	Abnormal systemic blood pressure	1285	COL4A3	OMIM:104200
HP:0030972	Abnormal systemic blood pressure	1286	COL4A4	OMIM:203780
HP:0030972	Abnormal systemic blood pressure	54796	BNC2	ORPHA:93110
HP:0030972	Abnormal systemic blood pressure	2335	FN1	ORPHA:84090
HP:0030972	Abnormal systemic blood pressure	2335	FN1	OMIM:601894
HP:0030972	Abnormal systemic blood pressure	3425	IDUA	ORPHA:93473
HP:0030972	Abnormal systemic blood pressure	79783	SUGCT	OMIM:231690
HP:0030972	Abnormal systemic blood pressure	2132	EXT2	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	60529	ALX4	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	51317	PHF21A	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	81	ACTN4	OMIM:603278
HP:0030972	Abnormal systemic blood pressure	10269	ZMPSTE24	ORPHA:740
HP:0030972	Abnormal systemic blood pressure	51360	MBTPS2	OMIM:308205
HP:0030972	Abnormal systemic blood pressure	60401	EDA2R	ORPHA:181
HP:0030972	Abnormal systemic blood pressure	1896	EDA	ORPHA:181
HP:0030972	Abnormal systemic blood pressure	2629	GBA1	OMIM:230800
HP:0030972	Abnormal systemic blood pressure	64131	XYLT1	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	64132	XYLT2	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	5654	HTRA1	OMIM:616779
HP:0030972	Abnormal systemic blood pressure	3145	HMBS	OMIM:176000
HP:0030972	Abnormal systemic blood pressure	3145	HMBS	ORPHA:79276
HP:0030972	Abnormal systemic blood pressure	353	APRT	ORPHA:976
HP:0030972	Abnormal systemic blood pressure	5456	POU3F4	ORPHA:1435
HP:0030972	Abnormal systemic blood pressure	4221	MEN1	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1027	CDKN1B	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1026	CDKN1A	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1030	CDKN2B	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1031	CDKN2C	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	4256	MGP	OMIM:245150
HP:0030972	Abnormal systemic blood pressure	8815	BANF1	OMIM:614008
HP:0030972	Abnormal systemic blood pressure	63929	XPNPEP3	OMIM:613159
HP:0030972	Abnormal systemic blood pressure	59	ACTA2	OMIM:613834
HP:0030972	Abnormal systemic blood pressure	59	ACTA2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4853	NOTCH2	OMIM:610205
HP:0030972	Abnormal systemic blood pressure	1371	CPOX	OMIM:121300
HP:0030972	Abnormal systemic blood pressure	65266	WNK4	OMIM:614491
HP:0030972	Abnormal systemic blood pressure	65125	WNK1	OMIM:614492
HP:0030972	Abnormal systemic blood pressure	8516	ITGA8	OMIM:191830
HP:0030972	Abnormal systemic blood pressure	23404	EXOSC2	OMIM:617763
HP:0030972	Abnormal systemic blood pressure	26249	KLHL3	OMIM:614495
HP:0030972	Abnormal systemic blood pressure	8452	CUL3	OMIM:614496
HP:0030972	Abnormal systemic blood pressure	9935	MAFB	OMIM:166300
HP:0030972	Abnormal systemic blood pressure	26146	TRAF3IP1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	9657	IQCB1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	261734	NPHP4	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	57728	WDR19	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	22897	CEP164	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	4629	MYH11	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7046	TGFBR1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7048	TGFBR2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4015	LOX	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4087	SMAD2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7043	TGFB3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4088	SMAD3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7042	TGFB2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	5592	PRKG1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	2301	FOXE3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4144	MAT2A	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	23493	HEY2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	8076	MFAP5	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4638	MYLK	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	55901	THSD1	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	7049	TGFBR3	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	83854	ANGPTL6	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	10660	LBX1	OMIM:619483
HP:0030972	Abnormal systemic blood pressure	1534	CYB561	OMIM:618182
HP:0030972	Abnormal systemic blood pressure	8518	ELP1	OMIM:223900
HP:0030972	Abnormal systemic blood pressure	8518	ELP1	ORPHA:1764
HP:0030972	Abnormal systemic blood pressure	6622	SNCA	OMIM:605543
HP:0030972	Abnormal systemic blood pressure	1621	DBH	ORPHA:230
HP:0030972	Abnormal systemic blood pressure	1621	DBH	OMIM:223360
HP:0030972	Abnormal systemic blood pressure	1136	CHRNA3	OMIM:191800
HP:0030972	Abnormal systemic blood pressure	29926	GMPPA	OMIM:615510
HP:0030972	Abnormal systemic blood pressure	1585	CYP11B2	OMIM:610600
HP:0030972	Abnormal systemic blood pressure	1585	CYP11B2	ORPHA:556030
HP:0030972	Abnormal systemic blood pressure	538	ATP7A	OMIM:304150
HP:0030972	Abnormal systemic blood pressure	27235	COQ2	OMIM:146500
HP:0030972	Abnormal systemic blood pressure	8086	AAAS	OMIM:231550
HP:0030972	Abnormal systemic blood pressure	1277	COL1A1	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	1289	COL5A1	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	1290	COL5A2	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	2632	GBE1	OMIM:263570
HP:0030972	Abnormal systemic blood pressure	857	CAV1	OMIM:606721
HP:0030972	Abnormal systemic blood pressure	3594	IL12RB1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	23534	TNPO3	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3592	IL12A	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	6689	SPIB	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	5450	POU2AF1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	9966	TNFSF15	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	79258	MMEL1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3663	IRF5	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3074	HEXB	OMIM:268800
HP:0030972	Abnormal systemic blood pressure	51142	CHCHD2	OMIM:616710
HP:0030972	Abnormal systemic blood pressure	80208	SPG11	ORPHA:2822
HP:0030972	Abnormal systemic blood pressure	4001	LMNB1	ORPHA:99027
HP:0030972	Abnormal systemic blood pressure	171023	ASXL1	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	54790	TET2	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	54790	TET2	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	54790	TET2	ORPHA:729
HP:0030972	Abnormal systemic blood pressure	867	CBL	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	861	RUNX1	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	6427	SRSF2	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	7840	ALMS1	ORPHA:64
HP:0030972	Abnormal systemic blood pressure	5314	PKHD1	OMIM:263200
HP:0030972	Abnormal systemic blood pressure	5314	PKHD1	ORPHA:53035
HP:0030972	Abnormal systemic blood pressure	5314	PKHD1	ORPHA:731
HP:0030972	Abnormal systemic blood pressure	55532	SLC30A10	ORPHA:309854
HP:0030972	Abnormal systemic blood pressure	72	ACTG2	OMIM:619431
HP:0030972	Abnormal systemic blood pressure	9414	TJP2	OMIM:615878
HP:0030972	Abnormal systemic blood pressure	811	CALR	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	811	CALR	ORPHA:131
HP:0030972	Abnormal systemic blood pressure	4352	MPL	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	4352	MPL	ORPHA:729
HP:0030972	Abnormal systemic blood pressure	3717	JAK2	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	3717	JAK2	ORPHA:131
HP:0030972	Abnormal systemic blood pressure	3717	JAK2	ORPHA:729
HP:0030972	Abnormal systemic blood pressure	10056	FARSB	OMIM:613658
HP:0030972	Abnormal systemic blood pressure	91147	TMEM67	OMIM:216360
HP:0030972	Abnormal systemic blood pressure	91147	TMEM67	ORPHA:84081
HP:0030972	Abnormal systemic blood pressure	91147	TMEM67	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	197131	UBR1	OMIM:243800
HP:0030972	Abnormal systemic blood pressure	100147744	RNU7-1	OMIM:619487
HP:0030972	Abnormal systemic blood pressure	79991	STN1	OMIM:617341
HP:0030972	Abnormal systemic blood pressure	27031	NPHP3	OMIM:208540
HP:0030972	Abnormal systemic blood pressure	27031	NPHP3	OMIM:267010
HP:0030972	Abnormal systemic blood pressure	83737	ITCH	OMIM:613385
HP:0030972	Abnormal systemic blood pressure	83737	ITCH	ORPHA:228426
HP:0030972	Abnormal systemic blood pressure	1716	DGUOK	OMIM:617068
HP:0030972	Abnormal systemic blood pressure	1716	DGUOK	OMIM:251880
HP:0030972	Abnormal systemic blood pressure	50674	NEUROG3	ORPHA:83620
HP:0030972	Abnormal systemic blood pressure	51816	ADA2	OMIM:615688
HP:0030972	Abnormal systemic blood pressure	84936	ZFYVE19	OMIM:619849
HP:0030972	Abnormal systemic blood pressure	169792	GLIS3	OMIM:610199
HP:0030972	Abnormal systemic blood pressure	51473	DCDC2	ORPHA:84081
HP:0030972	Abnormal systemic blood pressure	51473	DCDC2	OMIM:617394
HP:0030972	Abnormal systemic blood pressure	23729	SHPK	ORPHA:440713
HP:0030972	Abnormal systemic blood pressure	9076	CLDN1	ORPHA:59303
HP:0030972	Abnormal systemic blood pressure	9076	CLDN1	OMIM:607626
HP:0030972	Abnormal systemic blood pressure	6663	SOX10	OMIM:609136
HP:0030972	Abnormal systemic blood pressure	51085	MLXIPL	OMIM:194050
HP:0030972	Abnormal systemic blood pressure	2006	ELN	OMIM:194050
HP:0030972	Abnormal systemic blood pressure	3516	RBPJ	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	4851	NOTCH1	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	57514	ARHGAP31	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	57572	DOCK6	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	285203	EOGT	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	54567	DLL4	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	54567	DLL4	OMIM:616589
HP:0030972	Abnormal systemic blood pressure	199221	DZIP1L	ORPHA:731
HP:0030972	Abnormal systemic blood pressure	9968	MED12	OMIM:301068
HP:0030972	Abnormal systemic blood pressure	2658	GDF2	ORPHA:774
HP:0030972	Abnormal systemic blood pressure	2658	GDF2	OMIM:615506
HP:0030972	Abnormal systemic blood pressure	94	ACVRL1	ORPHA:774
HP:0030972	Abnormal systemic blood pressure	4089	SMAD4	ORPHA:774
HP:0030972	Abnormal systemic blood pressure	2022	ENG	ORPHA:774
HP:0030972	Abnormal systemic blood pressure	4351	MPI	ORPHA:79319
HP:0030972	Abnormal systemic blood pressure	2153	F5	ORPHA:131
HP:0030972	Abnormal systemic blood pressure	2859	GPR35	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	10507	SEMA4D	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	4485	MST1	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	6925	TCF4	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	79989	IFT56	OMIM:619534
HP:0030972	Abnormal systemic blood pressure	3988	LIPA	OMIM:278000
HP:0030972	Abnormal systemic blood pressure	654	BMP6	ORPHA:465508
HP:0030972	Abnormal systemic blood pressure	3077	HFE	ORPHA:465508
HP:0030972	Abnormal systemic blood pressure	5557	PRIM1	OMIM:620005
HP:0030972	Abnormal systemic blood pressure	3431	SP110	ORPHA:79124
HP:0030972	Abnormal systemic blood pressure	5825	ABCD3	OMIM:616278
HP:0030972	Abnormal systemic blood pressure	93183	PIGM	OMIM:610293
HP:0030972	Abnormal systemic blood pressure	55340	GIMAP5	OMIM:619463
HP:0030972	Abnormal systemic blood pressure	113220	KIF12	OMIM:619662
HP:0030972	Abnormal systemic blood pressure	7289	TULP3	OMIM:619902
HP:0030972	Abnormal systemic blood pressure	56623	INPP5E	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	23322	RPGRIP1L	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	57545	CC2D2A	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	2783	GNB2	OMIM:619503
HP:0030972	Abnormal systemic blood pressure	56244	BTNL2	ORPHA:797
HP:0030972	Abnormal systemic blood pressure	3123	HLA-DRB1	ORPHA:797
HP:0030972	Abnormal systemic blood pressure	3155	HMGCL	ORPHA:20
HP:0030972	Abnormal systemic blood pressure	6492	SIM1	ORPHA:369873
HP:0030972	Abnormal systemic blood pressure	4791	NFKB2	ORPHA:293978
HP:0030972	Abnormal systemic blood pressure	51422	PRKAG2	OMIM:261740
HP:0030972	Abnormal systemic blood pressure	3815	KIT	ORPHA:98849
HP:0030972	Abnormal systemic blood pressure	3815	KIT	ORPHA:79455
HP:0030972	Abnormal systemic blood pressure	2767	GNA11	ORPHA:428
HP:0030972	Abnormal systemic blood pressure	846	CASR	ORPHA:428
HP:0030972	Abnormal systemic blood pressure	6261	RYR1	ORPHA:466650
HP:0030972	Abnormal systemic blood pressure	6261	RYR1	OMIM:145600
HP:0030972	Abnormal systemic blood pressure	5972	REN	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	1636	ACE	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	1639	DCTN1	ORPHA:178509
HP:0030972	Abnormal systemic blood pressure	1644	DDC	OMIM:608643
HP:0030972	Abnormal systemic blood pressure	710	SERPING1	ORPHA:100050
HP:0030972	Abnormal systemic blood pressure	3284	HSD3B2	ORPHA:90791
HP:0030972	Abnormal systemic blood pressure	7139	TNNT2	OMIM:612422
HP:0030972	Abnormal systemic blood pressure	1583	CYP11A1	ORPHA:289548
HP:0030972	Abnormal systemic blood pressure	1583	CYP11A1	ORPHA:168558
HP:0030972	Abnormal systemic blood pressure	5144	PDE4D	ORPHA:439822
HP:0030972	Abnormal systemic blood pressure	788	SLC25A20	ORPHA:159
HP:0030972	Abnormal systemic blood pressure	788	SLC25A20	OMIM:212138
HP:0030972	Abnormal systemic blood pressure	213	ALB	OMIM:616000
HP:0030972	Abnormal systemic blood pressure	5626	PROP1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5626	PROP1	ORPHA:90695
HP:0030972	Abnormal systemic blood pressure	2736	GLI2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	89884	LHX4	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	3170	FOXA2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5449	POU1F1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	8820	HESX1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5015	OTX2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	6288	SAA1	ORPHA:85445
HP:0030972	Abnormal systemic blood pressure	101101692	HELLPAR	ORPHA:244242
HP:0030972	Abnormal systemic blood pressure	3662	IRF4	ORPHA:3452
HP:0030972	Abnormal systemic blood pressure	9095	TBX19	ORPHA:199296
HP:0030972	Abnormal systemic blood pressure	56246	MRAP	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	6770	STAR	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	4158	MC2R	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	23530	NNT	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	10587	TXNRD2	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	1616	DAXX	ORPHA:100075
HP:0030972	Abnormal systemic blood pressure	6559	SLC12A3	OMIM:263800
HP:0030972	Abnormal systemic blood pressure	6440	SFTPC	ORPHA:70587
HP:0030972	Abnormal systemic blood pressure	21	ABCA3	ORPHA:70587
HP:0030972	Abnormal systemic blood pressure	6439	SFTPB	ORPHA:70587
HP:0030972	Abnormal systemic blood pressure	8942	KYNU	ORPHA:79155
HP:0030972	Abnormal systemic blood pressure	6658	SOX3	ORPHA:90695
HP:0030972	Abnormal systemic blood pressure	6557	SLC12A1	OMIM:601678
HP:0030972	Abnormal systemic blood pressure	3758	KCNJ1	OMIM:241200
HP:0030972	Abnormal systemic blood pressure	55654	TMEM127	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	55654	TMEM127	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	5979	RET	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	5979	RET	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	5979	RET	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	4149	MAX	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	4149	MAX	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	7428	VHL	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	7428	VHL	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	7428	VHL	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	1743	DLST	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	4191	MDH2	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6389	SDHA	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	23095	KIF1B	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	2271	FH	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	8402	SLC25A11	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	54949	SDHAF2	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	4763	NF1	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6391	SDHC	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	1788	DNMT3A	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	2034	EPAS1	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	554	AVPR2	OMIM:300539
HP:0030972	Abnormal systemic blood pressure	4914	NTRK1	ORPHA:642
HP:0030972	Abnormal systemic blood pressure	410	ARSA	ORPHA:309271
HP:0030972	Abnormal systemic blood pressure	5660	PSAP	ORPHA:309271
HP:0030972	Abnormal systemic blood pressure	2934	GSN	ORPHA:85448
HP:0030972	Abnormal systemic blood pressure	3953	LEPR	ORPHA:179494
HP:0030972	Abnormal systemic blood pressure	23317	DNAJC13	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	1981	EIF4G1	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	55737	VPS35	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	120892	LRRK2	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	26058	GIGYF2	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	3952	LEP	ORPHA:66628
HP:0030972	Abnormal systemic blood pressure	7276	TTR	OMIM:105210
HP:0030972	Abnormal systemic blood pressure	2321	FLT1	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	219736	STOX1	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	10699	CORIN	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	4846	NOS3	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	1889	ECE1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	1577	CYP3A5	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	2784	GNB3	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	8490	RGS5	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	5740	PTGIS	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	118	ADD1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	481	ATP1B1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	185	AGTR1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	183	AGT	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	1161	ERCC8	ORPHA:90324
HP:0030972	Abnormal systemic blood pressure	2074	ERCC6	ORPHA:90324
HP:0030972	Abnormal systemic blood pressure	1235	CCR6	ORPHA:220393
HP:0030972	Abnormal systemic blood pressure	1490	CCN2	ORPHA:220393
HP:0030972	Abnormal systemic blood pressure	3593	IL12B	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	3106	HLA-B	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	6945	MLX	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	1312	COMT	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	221037	JMJD1C	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	2812	GP1BB	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	6239	RREB1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	6899	TBX1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	7290	HIRA	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	9632	SEC24C	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	7353	UFD1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	421	ARVCF	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	51284	TLR7	OMIM:301080
HP:0030972	Abnormal systemic blood pressure	389827	MYMK	ORPHA:1358
HP:0030972	Abnormal systemic blood pressure	101929726	MYMX	ORPHA:1358
HP:0030972	Abnormal systemic blood pressure	6772	STAT1	ORPHA:391487
HP:0030972	Abnormal systemic blood pressure	10043	TOM1	ORPHA:391487
HP:0030973	Postexertional symptom exacerbation	6840	SVIL	OMIM:619040
HP:0030973	Postexertional symptom exacerbation	23299	BICD2	OMIM:615290
HP:0030973	Postexertional symptom exacerbation	6331	SCN5A	ORPHA:1344
HP:0030973	Postexertional symptom exacerbation	4878	NPPA	ORPHA:1344
HP:0030973	Postexertional symptom exacerbation	3753	KCNE1	ORPHA:90647
HP:0030973	Postexertional symptom exacerbation	3784	KCNQ1	ORPHA:90647
HP:0030973	Postexertional symptom exacerbation	1311	COMP	ORPHA:93308
HP:0030973	Postexertional symptom exacerbation	56606	SLC2A9	ORPHA:94088
HP:0030973	Postexertional symptom exacerbation	116085	SLC22A12	ORPHA:94088
HP:0030973	Postexertional symptom exacerbation	5836	PYGL	ORPHA:369
HP:0030973	Postexertional symptom exacerbation	5837	PYGM	ORPHA:368
HP:0030973	Postexertional symptom exacerbation	1297	COL9A1	ORPHA:166002
HP:0030973	Postexertional symptom exacerbation	1298	COL9A2	ORPHA:166002
HP:0030973	Postexertional symptom exacerbation	1299	COL9A3	ORPHA:166002
HP:0030974	Cryptozoospermia	10388	SYCP2	OMIM:258150
HP:0030974	Cryptozoospermia	375307	CATIP	OMIM:619379
HP:0030974	Cryptozoospermia	254528	MEIOB	OMIM:617706
HP:0030974	Cryptozoospermia	2516	NR5A1	OMIM:613957
HP:0030974	Cryptozoospermia	56154	TEX15	OMIM:617960
HP:0030974	Cryptozoospermia	122402	TDRD9	OMIM:618110
HP:0030976	Abnormal factor VIII activity	2157	F8	OMIM:306700
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:177926
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:169805
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:169802
HP:0030976	Abnormal factor VIII activity	7450	VWF	OMIM:193400
HP:0030976	Abnormal factor VIII activity	7450	VWF	OMIM:277480
HP:0030976	Abnormal factor VIII activity	3998	LMAN1	OMIM:227300
HP:0030976	Abnormal factor VIII activity	3998	LMAN1	ORPHA:35909
HP:0030976	Abnormal factor VIII activity	90411	MCFD2	ORPHA:35909
HP:0030976	Abnormal factor VIII activity	90411	MCFD2	OMIM:613625
HP:0030976	Abnormal factor VIII activity	6654	SOS1	OMIM:610733
HP:0030977	Increased factor VIII activity	2157	F8	OMIM:301071
HP:0030978	Decreased CSF/serum albumin ratio	55768	NGLY1	OMIM:615273
HP:0000321	Square face	22827	PUF60	ORPHA:508488
HP:0000321	Square face	22827	PUF60	OMIM:615583
HP:0000321	Square face	1387	CREBBP	OMIM:618332
HP:0000321	Square face	2033	EP300	OMIM:618333
HP:0000321	Square face	3977	LIFR	OMIM:601559
HP:0000321	Square face	23067	SETD1B	OMIM:619000
HP:0000321	Square face	10765	KDM5B	OMIM:618109
HP:0000321	Square face	92949	ADAMTSL1	ORPHA:521445
HP:0000321	Square face	55636	CHD7	OMIM:214800
HP:0000321	Square face	51322	WAC	ORPHA:466950
HP:0000321	Square face	55081	IFT57	OMIM:617927
HP:0000321	Square face	28962	OSTM1	OMIM:259720
HP:0000320	Bird-like facies	10111	RAD50	OMIM:613078
HP:0000320	Bird-like facies	4000	LMNA	OMIM:248370
HP:0000320	Bird-like facies	10269	ZMPSTE24	OMIM:608612
HP:0000320	Bird-like facies	7486	WRN	OMIM:277700
HP:0000320	Bird-like facies	7518	XRCC4	ORPHA:99812
HP:0000320	Bird-like facies	3981	LIG4	ORPHA:99812
HP:0000320	Bird-like facies	80326	WNT10A	OMIM:224750
HP:0000320	Bird-like facies	80326	WNT10A	ORPHA:50944
HP:0000320	Bird-like facies	404672	GTF2H5	ORPHA:33364
HP:0000320	Bird-like facies	833	CARS1	ORPHA:33364
HP:0000320	Bird-like facies	2068	ERCC2	ORPHA:33364
HP:0000320	Bird-like facies	7737	RNF113A	ORPHA:33364
HP:0000320	Bird-like facies	136647	MPLKIP	ORPHA:33364
HP:0000320	Bird-like facies	6897	TARS1	ORPHA:33364
HP:0000320	Bird-like facies	2071	ERCC3	ORPHA:33364
HP:0000320	Bird-like facies	2961	GTF2E2	ORPHA:33364
HP:0000320	Bird-like facies	5424	POLD1	OMIM:615381
HP:0000320	Bird-like facies	79840	NHEJ1	ORPHA:169079
HP:0000326	Abnormal maxilla morphology	2248	FGF3	ORPHA:2791
HP:0000326	Abnormal maxilla morphology	7291	TWIST1	ORPHA:794
HP:0000326	Abnormal maxilla morphology	7291	TWIST1	OMIM:101400
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	ORPHA:794
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	OMIM:123500
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	ORPHA:87
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	ORPHA:207
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	OMIM:101400
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	ORPHA:1540
HP:0000326	Abnormal maxilla morphology	2263	FGFR2	OMIM:101600
HP:0000326	Abnormal maxilla morphology	2261	FGFR3	ORPHA:794
HP:0000326	Abnormal maxilla morphology	2261	FGFR3	ORPHA:93262
HP:0000326	Abnormal maxilla morphology	5573	PRKAR1A	ORPHA:950
HP:0000326	Abnormal maxilla morphology	5573	PRKAR1A	OMIM:101800
HP:0000326	Abnormal maxilla morphology	5144	PDE4D	ORPHA:950
HP:0000326	Abnormal maxilla morphology	5144	PDE4D	ORPHA:439822
HP:0000326	Abnormal maxilla morphology	2245	FGD1	OMIM:305400
HP:0000326	Abnormal maxilla morphology	2245	FGD1	ORPHA:915
HP:0000326	Abnormal maxilla morphology	10617	STAMBP	OMIM:614261
HP:0000326	Abnormal maxilla morphology	22856	CHSY1	ORPHA:363417
HP:0000326	Abnormal maxilla morphology	26128	KIFBP	OMIM:609460
HP:0000326	Abnormal maxilla morphology	5077	PAX3	ORPHA:1529
HP:0000326	Abnormal maxilla morphology	5077	PAX3	OMIM:122880
HP:0000326	Abnormal maxilla morphology	10992	SF3B2	OMIM:164210
HP:0000326	Abnormal maxilla morphology	8626	TP63	OMIM:604292
HP:0000326	Abnormal maxilla morphology	8626	TP63	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	8626	TP63	OMIM:106260
HP:0000326	Abnormal maxilla morphology	8626	TP63	OMIM:129400
HP:0000326	Abnormal maxilla morphology	10084	PQBP1	ORPHA:93950
HP:0000326	Abnormal maxilla morphology	10084	PQBP1	ORPHA:93945
HP:0000326	Abnormal maxilla morphology	5308	PITX2	ORPHA:782
HP:0000326	Abnormal maxilla morphology	5308	PITX2	OMIM:180500
HP:0000326	Abnormal maxilla morphology	2296	FOXC1	ORPHA:782
HP:0000326	Abnormal maxilla morphology	7314	UBB	ORPHA:99772
HP:0000326	Abnormal maxilla morphology	57822	GRHL3	ORPHA:99772
HP:0000326	Abnormal maxilla morphology	4054	LTBP3	OMIM:601216
HP:0000326	Abnormal maxilla morphology	650	BMP2	ORPHA:261295
HP:0000326	Abnormal maxilla morphology	91179	SCARF2	OMIM:600920
HP:0000326	Abnormal maxilla morphology	6651	SON	OMIM:617140
HP:0000326	Abnormal maxilla morphology	6651	SON	ORPHA:500150
HP:0000326	Abnormal maxilla morphology	4487	MSX1	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	5818	NECTIN1	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	1739	DLG1	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	652	BMP4	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	999	CDH1	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	5156	PDGFRA	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	3664	IRF6	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	9411	ARHGAP29	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	1748	DLX4	ORPHA:199306
HP:0000326	Abnormal maxilla morphology	10847	SRCAP	ORPHA:2044
HP:0000326	Abnormal maxilla morphology	25782	RAB3GAP2	OMIM:212720
HP:0000326	Abnormal maxilla morphology	29072	SETD2	OMIM:620157
HP:0000326	Abnormal maxilla morphology	51114	ZDHHC9	ORPHA:776
HP:0000326	Abnormal maxilla morphology	65109	UPF3B	ORPHA:776
HP:0000326	Abnormal maxilla morphology	65109	UPF3B	OMIM:300676
HP:0000326	Abnormal maxilla morphology	9968	MED12	ORPHA:776
HP:0000326	Abnormal maxilla morphology	9968	MED12	OMIM:309520
HP:0000326	Abnormal maxilla morphology	64135	IFIH1	OMIM:182250
HP:0000326	Abnormal maxilla morphology	10484	SEC23A	ORPHA:50814
HP:0000326	Abnormal maxilla morphology	4998	ORC1	OMIM:224690
HP:0000326	Abnormal maxilla morphology	4998	ORC1	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	25885	POLR1A	OMIM:616462
HP:0000326	Abnormal maxilla morphology	29920	PYCR2	ORPHA:481152
HP:0000326	Abnormal maxilla morphology	92344	GORAB	OMIM:231070
HP:0000326	Abnormal maxilla morphology	2077	ERF	ORPHA:207
HP:0000326	Abnormal maxilla morphology	2317	FLNB	OMIM:108721
HP:0000326	Abnormal maxilla morphology	3759	KCNJ2	OMIM:170390
HP:0000326	Abnormal maxilla morphology	3759	KCNJ2	ORPHA:37553
HP:0000326	Abnormal maxilla morphology	81620	CDT1	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	81620	CDT1	OMIM:613804
HP:0000326	Abnormal maxilla morphology	5000	ORC4	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	23594	ORC6	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	23594	ORC6	OMIM:613803
HP:0000326	Abnormal maxilla morphology	8318	CDC45	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	990	CDC6	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	990	CDC6	OMIM:613805
HP:0000326	Abnormal maxilla morphology	51053	GMNN	ORPHA:2554
HP:0000326	Abnormal maxilla morphology	1009	CDH11	OMIM:211380
HP:0000326	Abnormal maxilla morphology	1009	CDH11	ORPHA:1299
HP:0000326	Abnormal maxilla morphology	157680	VPS13B	OMIM:216550
HP:0000326	Abnormal maxilla morphology	157680	VPS13B	ORPHA:193
HP:0000326	Abnormal maxilla morphology	1301	COL11A1	ORPHA:560
HP:0000326	Abnormal maxilla morphology	633	BGN	OMIM:300106
HP:0000326	Abnormal maxilla morphology	1280	COL2A1	ORPHA:90653
HP:0000326	Abnormal maxilla morphology	79633	FAT4	OMIM:615546
HP:0000326	Abnormal maxilla morphology	79633	FAT4	ORPHA:314679
HP:0000326	Abnormal maxilla morphology	8642	DCHS1	OMIM:601390
HP:0000326	Abnormal maxilla morphology	8642	DCHS1	ORPHA:314679
HP:0000326	Abnormal maxilla morphology	2239	GPC4	ORPHA:2662
HP:0000326	Abnormal maxilla morphology	9343	EFTUD2	ORPHA:79113
HP:0000326	Abnormal maxilla morphology	2697	GJA1	OMIM:257850
HP:0000326	Abnormal maxilla morphology	81794	ADAMTS10	OMIM:277600
HP:0000326	Abnormal maxilla morphology	6197	RPS6KA3	ORPHA:192
HP:0000326	Abnormal maxilla morphology	29957	SLC25A24	ORPHA:2095
HP:0000326	Abnormal maxilla morphology	55621	TRMT1	OMIM:618302
HP:0000326	Abnormal maxilla morphology	3590	IL11RA	OMIM:614188
HP:0000326	Abnormal maxilla morphology	8092	ALX1	ORPHA:306542
HP:0000326	Abnormal maxilla morphology	145173	B3GLCT	OMIM:261540
HP:0000326	Abnormal maxilla morphology	1387	CREBBP	OMIM:180849
HP:0000326	Abnormal maxilla morphology	2033	EP300	OMIM:180849
HP:0000326	Abnormal maxilla morphology	117581	TWIST2	OMIM:209885
HP:0000326	Abnormal maxilla morphology	117581	TWIST2	ORPHA:920
HP:0000326	Abnormal maxilla morphology	1909	EDNRA	OMIM:616367
HP:0000326	Abnormal maxilla morphology	6638	SNRPN	OMIM:105830
HP:0000326	Abnormal maxilla morphology	7337	UBE3A	OMIM:105830
HP:0000326	Abnormal maxilla morphology	54499	TMCO1	OMIM:213980
HP:0000326	Abnormal maxilla morphology	84172	POLR1B	ORPHA:861
HP:0000326	Abnormal maxilla morphology	9533	POLR1C	ORPHA:861
HP:0000326	Abnormal maxilla morphology	51082	POLR1D	ORPHA:861
HP:0000326	Abnormal maxilla morphology	6949	TCOF1	ORPHA:861
HP:0000326	Abnormal maxilla morphology	2200	FBN1	OMIM:608328
HP:0000326	Abnormal maxilla morphology	2200	FBN1	ORPHA:2462
HP:0000326	Abnormal maxilla morphology	5728	PTEN	OMIM:158350
HP:0000326	Abnormal maxilla morphology	26137	ZBTB20	OMIM:259050
HP:0000326	Abnormal maxilla morphology	4089	SMAD4	OMIM:139210
HP:0000326	Abnormal maxilla morphology	4089	SMAD4	ORPHA:2588
HP:0000326	Abnormal maxilla morphology	5159	PDGFRB	OMIM:601812
HP:0000326	Abnormal maxilla morphology	51715	RAB23	OMIM:201000
HP:0000326	Abnormal maxilla morphology	388015	RTL1	ORPHA:96334
HP:0000326	Abnormal maxilla morphology	8788	DLK1	ORPHA:96334
HP:0000326	Abnormal maxilla morphology	55384	MEG3	ORPHA:96334
HP:0000326	Abnormal maxilla morphology	3930	LBR	OMIM:215140
HP:0000326	Abnormal maxilla morphology	6497	SKI	OMIM:182212
HP:0000326	Abnormal maxilla morphology	6497	SKI	ORPHA:2462
HP:0000326	Abnormal maxilla morphology	8242	KDM5C	OMIM:300534
HP:0000326	Abnormal maxilla morphology	8242	KDM5C	ORPHA:85279
HP:0000326	Abnormal maxilla morphology	2260	FGFR1	OMIM:166250
HP:0000326	Abnormal maxilla morphology	2260	FGFR1	OMIM:101600
HP:0000326	Abnormal maxilla morphology	4313	MMP2	OMIM:259600
HP:0000326	Abnormal maxilla morphology	1513	CTSK	ORPHA:763
HP:0000326	Abnormal maxilla morphology	257	ALX3	OMIM:136760
HP:0000326	Abnormal maxilla morphology	257	ALX3	ORPHA:391474
HP:0000326	Abnormal maxilla morphology	10262	SF3B4	ORPHA:245
HP:0000326	Abnormal maxilla morphology	23102	TBC1D2B	ORPHA:397973
HP:0000326	Abnormal maxilla morphology	860	RUNX2	OMIM:156510
HP:0000326	Abnormal maxilla morphology	54101	RIPK4	OMIM:263650
HP:0000326	Abnormal maxilla morphology	5566	PRKACA	OMIM:619142
HP:0000326	Abnormal maxilla morphology	80169	CTC1	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	26277	TINF2	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	55651	NHP2	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	79650	USB1	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	55135	WRAP53	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	51750	RTEL1	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	4869	NPM1	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	7012	TERC	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	55505	NOP10	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	5073	PARN	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	7015	TERT	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	1736	DKC1	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	7298	TYMS	ORPHA:1775
HP:0000326	Abnormal maxilla morphology	10844	TUBGCP2	OMIM:618737
HP:0000326	Abnormal maxilla morphology	529	ATP6V1E1	OMIM:617402
HP:0000326	Abnormal maxilla morphology	5290	PIK3CA	OMIM:615108
HP:0000326	Abnormal maxilla morphology	207	AKT1	OMIM:615109
HP:0000326	Abnormal maxilla morphology	9935	MAFB	OMIM:166300
HP:0000326	Abnormal maxilla morphology	3762	KCNJ5	ORPHA:37553
HP:0000326	Abnormal maxilla morphology	865	CBFB	OMIM:620099
HP:0000326	Abnormal maxilla morphology	9990	SLC12A6	OMIM:218000
HP:0000326	Abnormal maxilla morphology	25	ABL1	OMIM:617602
HP:0000326	Abnormal maxilla morphology	1289	COL5A1	OMIM:130000
HP:0000326	Abnormal maxilla morphology	5727	PTCH1	OMIM:610828
HP:0000326	Abnormal maxilla morphology	2736	GLI2	OMIM:610829
HP:0000326	Abnormal maxilla morphology	64093	SMOC1	ORPHA:1106
HP:0000326	Abnormal maxilla morphology	415	ARSL	ORPHA:79345
HP:0000326	Abnormal maxilla morphology	1896	EDA	OMIM:313500
HP:0000326	Abnormal maxilla morphology	6496	SIX3	OMIM:157170
HP:0000326	Abnormal maxilla morphology	78989	COLEC11	OMIM:265050
HP:0000326	Abnormal maxilla morphology	30008	EFEMP2	OMIM:614437
HP:0000326	Abnormal maxilla morphology	4784	NFIX	OMIM:602535
HP:0000326	Abnormal maxilla morphology	4893	NRAS	OMIM:137550
HP:0000326	Abnormal maxilla morphology	3265	HRAS	OMIM:137550
HP:0000326	Abnormal maxilla morphology	5824	PEX19	OMIM:614886
HP:0000326	Abnormal maxilla morphology	157570	ESCO2	OMIM:268300
HP:0000326	Abnormal maxilla morphology	79759	ZNF668	OMIM:620194
HP:0000326	Abnormal maxilla morphology	6660	SOX5	ORPHA:313892
HP:0000326	Abnormal maxilla morphology	80232	WDR26	ORPHA:513456
HP:0000326	Abnormal maxilla morphology	80232	WDR26	OMIM:617616
HP:0000326	Abnormal maxilla morphology	1173	AP2M1	OMIM:618587
HP:0000326	Abnormal maxilla morphology	3043	HBB	ORPHA:231226
HP:0000326	Abnormal maxilla morphology	3043	HBB	ORPHA:231214
HP:0000326	Abnormal maxilla morphology	27107	ZBTB11	OMIM:618383
HP:0000326	Abnormal maxilla morphology	55084	SOBP	OMIM:613671
HP:0000326	Abnormal maxilla morphology	25942	SIN3A	OMIM:613406
HP:0000326	Abnormal maxilla morphology	2273	FHL1	OMIM:300280
HP:0000329	Facial hemangioma	9897	WASHC5	ORPHA:7
HP:0000329	Facial hemangioma	28952	CCDC22	ORPHA:7
HP:0000329	Facial hemangioma	2776	GNAQ	OMIM:185300
HP:0000329	Facial hemangioma	171023	ASXL1	OMIM:605039
HP:0000329	Facial hemangioma	9630	GNA14	ORPHA:1063
HP:0000329	Facial hemangioma	5500	PPP1CB	OMIM:617506
HP:0000329	Facial hemangioma	79644	SRD5A3	OMIM:612713
HP:0000329	Facial hemangioma	26040	SETBP1	OMIM:269150
HP:0000329	Facial hemangioma	26040	SETBP1	ORPHA:798
HP:0000329	Facial hemangioma	246329	STAC3	ORPHA:168572
HP:0000329	Facial hemangioma	1717	DHCR7	OMIM:270400
HP:0000329	Facial hemangioma	1717	DHCR7	ORPHA:818
HP:0000329	Facial hemangioma	2050	EPHB4	ORPHA:137667
HP:0000329	Facial hemangioma	5921	RASA1	ORPHA:137667
HP:0000329	Facial hemangioma	80036	TRPM3	OMIM:620224
HP:0000329	Facial hemangioma	9939	RBM8A	OMIM:274000
HP:0000329	Facial hemangioma	1836	SLC26A2	ORPHA:56304
HP:0000329	Facial hemangioma	157570	ESCO2	OMIM:268300
HP:0000329	Facial hemangioma	157570	ESCO2	ORPHA:3103
HP:0000329	Facial hemangioma	9401	RECQL4	OMIM:218600
HP:0000329	Facial hemangioma	4247	MGAT2	OMIM:212066
HP:0000329	Facial hemangioma	5447	POR	ORPHA:95699
HP:0000329	Facial hemangioma	2737	GLI3	ORPHA:672
HP:0000329	Facial hemangioma	2737	GLI3	OMIM:146510
HP:0000329	Facial hemangioma	10225	CD96	ORPHA:1308
HP:0000322	Short philtrum	3763	KCNJ6	ORPHA:435628
HP:0000322	Short philtrum	3763	KCNJ6	OMIM:614098
HP:0000322	Short philtrum	11253	MAN1B1	ORPHA:397941
HP:0000322	Short philtrum	11253	MAN1B1	OMIM:614202
HP:0000322	Short philtrum	8367	H4C5	OMIM:619950
HP:0000322	Short philtrum	340533	NEXMIF	OMIM:300912
HP:0000322	Short philtrum	340533	NEXMIF	ORPHA:85277
HP:0000322	Short philtrum	8294	H4C9	OMIM:619951
HP:0000322	Short philtrum	26128	KIFBP	OMIM:609460
HP:0000322	Short philtrum	55627	SMPD4	OMIM:618622
HP:0000322	Short philtrum	81857	MED25	OMIM:616449
HP:0000322	Short philtrum	81857	MED25	ORPHA:464738
HP:0000322	Short philtrum	7021	TFAP2B	OMIM:169100
HP:0000322	Short philtrum	7021	TFAP2B	ORPHA:46627
HP:0000322	Short philtrum	23126	POGZ	ORPHA:468678
HP:0000322	Short philtrum	23126	POGZ	OMIM:616364
HP:0000322	Short philtrum	4784	NFIX	ORPHA:447980
HP:0000322	Short philtrum	4784	NFIX	OMIM:602535
HP:0000322	Short philtrum	4983	OPHN1	OMIM:300486
HP:0000322	Short philtrum	23118	TAB2	ORPHA:228410
HP:0000322	Short philtrum	116931	MED12L	OMIM:618872
HP:0000322	Short philtrum	54968	TMEM70	ORPHA:1194
HP:0000322	Short philtrum	374654	KIF7	OMIM:200990
HP:0000322	Short philtrum	9578	CDC42BPB	OMIM:619841
HP:0000322	Short philtrum	283489	CHAMP1	OMIM:616579
HP:0000322	Short philtrum	10084	PQBP1	ORPHA:93945
HP:0000322	Short philtrum	10084	PQBP1	OMIM:309500
HP:0000322	Short philtrum	2314	FLII	ORPHA:819
HP:0000322	Short philtrum	23096	IQSEC2	ORPHA:819
HP:0000322	Short philtrum	10743	RAI1	ORPHA:819
HP:0000322	Short philtrum	10522	DEAF1	ORPHA:819
HP:0000322	Short philtrum	10847	SRCAP	ORPHA:2044
HP:0000322	Short philtrum	10847	SRCAP	OMIM:136140
HP:0000322	Short philtrum	23431	AP4E1	OMIM:613744
HP:0000322	Short philtrum	23431	AP4E1	ORPHA:280763
HP:0000322	Short philtrum	25782	RAB3GAP2	OMIM:212720
HP:0000322	Short philtrum	25782	RAB3GAP2	ORPHA:1387
HP:0000322	Short philtrum	25782	RAB3GAP2	ORPHA:2510
HP:0000322	Short philtrum	150468	CKAP2L	ORPHA:3255
HP:0000322	Short philtrum	150468	CKAP2L	OMIM:272440
HP:0000322	Short philtrum	26153	KIF26A	OMIM:620156
HP:0000322	Short philtrum	4038	LRP4	ORPHA:3258
HP:0000322	Short philtrum	324	APC	ORPHA:3258
HP:0000322	Short philtrum	55650	PIGV	OMIM:239300
HP:0000322	Short philtrum	55650	PIGV	ORPHA:247262
HP:0000322	Short philtrum	6595	SMARCA2	OMIM:619293
HP:0000322	Short philtrum	2260	FGFR1	ORPHA:280200
HP:0000322	Short philtrum	28514	DLL1	ORPHA:280200
HP:0000322	Short philtrum	2253	FGF8	ORPHA:280200
HP:0000322	Short philtrum	6496	SIX3	ORPHA:280200
HP:0000322	Short philtrum	7050	TGIF1	ORPHA:280200
HP:0000322	Short philtrum	4838	NODAL	ORPHA:280200
HP:0000322	Short philtrum	6469	SHH	ORPHA:280200
HP:0000322	Short philtrum	51684	SUFU	ORPHA:280200
HP:0000322	Short philtrum	7546	ZIC2	ORPHA:280200
HP:0000322	Short philtrum	2619	GAS1	ORPHA:280200
HP:0000322	Short philtrum	84976	DISP1	ORPHA:280200
HP:0000322	Short philtrum	2736	GLI2	ORPHA:280200
HP:0000322	Short philtrum	2736	GLI2	OMIM:610829
HP:0000322	Short philtrum	8928	FOXH1	ORPHA:280200
HP:0000322	Short philtrum	5727	PTCH1	ORPHA:280200
HP:0000322	Short philtrum	50937	CDON	ORPHA:280200
HP:0000322	Short philtrum	10559	SLC35A1	OMIM:603585
HP:0000322	Short philtrum	7102	TSPAN7	OMIM:300210
HP:0000322	Short philtrum	83696	TRAPPC9	OMIM:613192
HP:0000322	Short philtrum	84992	PIGY	ORPHA:247262
HP:0000322	Short philtrum	84720	PIGO	ORPHA:247262
HP:0000322	Short philtrum	93210	PGAP3	ORPHA:247262
HP:0000322	Short philtrum	284098	PIGW	ORPHA:247262
HP:0000322	Short philtrum	27315	PGAP2	ORPHA:247262
HP:0000322	Short philtrum	9487	PIGL	ORPHA:247262
HP:0000322	Short philtrum	9487	PIGL	ORPHA:3474
HP:0000322	Short philtrum	9487	PIGL	OMIM:280000
HP:0000322	Short philtrum	2590	GALNT2	OMIM:618885
HP:0000322	Short philtrum	57492	ARID1B	OMIM:135900
HP:0000322	Short philtrum	55870	ASH1L	OMIM:617796
HP:0000322	Short philtrum	3899	AFF3	OMIM:619297
HP:0000322	Short philtrum	64359	NXN	ORPHA:1507
HP:0000322	Short philtrum	4920	ROR2	ORPHA:1507
HP:0000322	Short philtrum	8289	ARID1A	OMIM:614607
HP:0000322	Short philtrum	6597	SMARCA4	OMIM:614609
HP:0000322	Short philtrum	157680	VPS13B	OMIM:216550
HP:0000322	Short philtrum	157680	VPS13B	ORPHA:193
HP:0000322	Short philtrum	79087	ALG12	OMIM:607143
HP:0000322	Short philtrum	79087	ALG12	ORPHA:79324
HP:0000322	Short philtrum	6899	TBX1	OMIM:188400
HP:0000322	Short philtrum	6899	TBX1	ORPHA:567
HP:0000322	Short philtrum	9839	ZEB2	ORPHA:261552
HP:0000322	Short philtrum	9839	ZEB2	ORPHA:261537
HP:0000322	Short philtrum	9896	FIG4	ORPHA:3472
HP:0000322	Short philtrum	9896	FIG4	OMIM:216340
HP:0000322	Short philtrum	55697	VAC14	ORPHA:3472
HP:0000322	Short philtrum	10815	CPLX1	ORPHA:280
HP:0000322	Short philtrum	10815	CPLX1	OMIM:194190
HP:0000322	Short philtrum	54872	PIGG	ORPHA:280
HP:0000322	Short philtrum	7469	NELFA	ORPHA:280
HP:0000322	Short philtrum	1487	CTBP1	ORPHA:280
HP:0000322	Short philtrum	1487	CTBP1	OMIM:194190
HP:0000322	Short philtrum	3954	LETM1	ORPHA:280
HP:0000322	Short philtrum	3954	LETM1	OMIM:194190
HP:0000322	Short philtrum	7468	NSD2	ORPHA:280
HP:0000322	Short philtrum	7468	NSD2	OMIM:194190
HP:0000322	Short philtrum	7468	NSD2	OMIM:619695
HP:0000322	Short philtrum	26053	AUTS2	ORPHA:352490
HP:0000322	Short philtrum	26053	AUTS2	OMIM:615834
HP:0000322	Short philtrum	23036	ZNF292	OMIM:619188
HP:0000322	Short philtrum	1009	CDH11	ORPHA:1299
HP:0000322	Short philtrum	26057	ANKRD17	OMIM:619504
HP:0000322	Short philtrum	89910	UBE3B	ORPHA:2707
HP:0000322	Short philtrum	25942	SIN3A	OMIM:613406
HP:0000322	Short philtrum	53834	FGFRL1	OMIM:194190
HP:0000322	Short philtrum	10716	TBR1	ORPHA:1617
HP:0000322	Short philtrum	2615	LRRC32	OMIM:619074
HP:0000322	Short philtrum	26038	CHD5	OMIM:619873
HP:0000322	Short philtrum	1182	CLCN3	OMIM:619512
HP:0000322	Short philtrum	10717	AP4B1	OMIM:614066
HP:0000322	Short philtrum	10717	AP4B1	ORPHA:280763
HP:0000322	Short philtrum	11154	AP4S1	OMIM:614067
HP:0000322	Short philtrum	11154	AP4S1	ORPHA:280763
HP:0000322	Short philtrum	7862	BRPF1	OMIM:617333
HP:0000322	Short philtrum	8905	AP1S2	ORPHA:85335
HP:0000322	Short philtrum	1857	DVL3	ORPHA:3107
HP:0000322	Short philtrum	7474	WNT5A	ORPHA:3107
HP:0000322	Short philtrum	1855	DVL1	ORPHA:3107
HP:0000322	Short philtrum	2535	FZD2	ORPHA:3107
HP:0000322	Short philtrum	8363	H4C11	OMIM:619759
HP:0000322	Short philtrum	126695	KDF1	OMIM:617337
HP:0000322	Short philtrum	9508	ADAMTS3	ORPHA:2136
HP:0000322	Short philtrum	147372	CCBE1	ORPHA:2136
HP:0000322	Short philtrum	79633	FAT4	ORPHA:2136
HP:0000322	Short philtrum	10013	HDAC6	ORPHA:163966
HP:0000322	Short philtrum	285175	UNC80	OMIM:616801
HP:0000322	Short philtrum	285175	UNC80	ORPHA:371364
HP:0000322	Short philtrum	3211	HOXB1	OMIM:614744
HP:0000322	Short philtrum	10907	TXNL4A	OMIM:608572
HP:0000322	Short philtrum	57459	GATAD2B	ORPHA:363686
HP:0000322	Short philtrum	57459	GATAD2B	OMIM:615074
HP:0000322	Short philtrum	54828	BCAS3	OMIM:619641
HP:0000322	Short philtrum	4089	SMAD4	OMIM:139210
HP:0000322	Short philtrum	56098	PCDHGC4	OMIM:619880
HP:0000322	Short philtrum	4849	CNOT3	OMIM:618672
HP:0000322	Short philtrum	10472	ZBTB18	OMIM:612337
HP:0000322	Short philtrum	9772	TMEM94	OMIM:618316
HP:0000322	Short philtrum	25973	PARS2	OMIM:618437
HP:0000322	Short philtrum	79971	WLS	OMIM:619648
HP:0000322	Short philtrum	6605	SMARCE1	OMIM:616938
HP:0000322	Short philtrum	388015	RTL1	ORPHA:96334
HP:0000322	Short philtrum	388015	RTL1	ORPHA:254531
HP:0000322	Short philtrum	388015	RTL1	ORPHA:96184
HP:0000322	Short philtrum	8788	DLK1	ORPHA:96334
HP:0000322	Short philtrum	8788	DLK1	ORPHA:254531
HP:0000322	Short philtrum	8788	DLK1	ORPHA:96184
HP:0000322	Short philtrum	55384	MEG3	ORPHA:96334
HP:0000322	Short philtrum	55384	MEG3	ORPHA:254531
HP:0000322	Short philtrum	55384	MEG3	ORPHA:96184
HP:0000322	Short philtrum	6925	TCF4	OMIM:610954
HP:0000322	Short philtrum	6925	TCF4	ORPHA:2896
HP:0000322	Short philtrum	11128	POLR3A	ORPHA:3455
HP:0000322	Short philtrum	23065	EMC1	ORPHA:480898
HP:0000322	Short philtrum	23065	EMC1	OMIM:616875
HP:0000322	Short philtrum	668	FOXL2	ORPHA:572333
HP:0000322	Short philtrum	4208	MEF2C	ORPHA:228384
HP:0000322	Short philtrum	4208	MEF2C	OMIM:613443
HP:0000322	Short philtrum	23162	MAPK8IP3	OMIM:618443
HP:0000322	Short philtrum	7355	SLC35A2	OMIM:300896
HP:0000322	Short philtrum	64919	BCL11B	OMIM:617237
HP:0000322	Short philtrum	7994	KAT6A	OMIM:616268
HP:0000322	Short philtrum	22930	RAB3GAP1	ORPHA:1387
HP:0000322	Short philtrum	22930	RAB3GAP1	ORPHA:2510
HP:0000322	Short philtrum	6611	SMS	OMIM:309583
HP:0000322	Short philtrum	6611	SMS	ORPHA:3063
HP:0000322	Short philtrum	51574	LARP7	ORPHA:319671
HP:0000322	Short philtrum	51574	LARP7	OMIM:615071
HP:0000322	Short philtrum	85440	DOCK7	OMIM:615859
HP:0000322	Short philtrum	85440	DOCK7	ORPHA:411986
HP:0000322	Short philtrum	117581	TWIST2	ORPHA:1807
HP:0000322	Short philtrum	1387	CREBBP	OMIM:618332
HP:0000322	Short philtrum	8295	TRRAP	OMIM:618454
HP:0000322	Short philtrum	8621	CDK13	OMIM:617360
HP:0000322	Short philtrum	3658	IREB2	OMIM:618451
HP:0000322	Short philtrum	4212	MEIS2	ORPHA:261190
HP:0000322	Short philtrum	6664	SOX11	OMIM:615866
HP:0000322	Short philtrum	196528	ARID2	OMIM:617808
HP:0000322	Short philtrum	55081	IFT57	OMIM:617927
HP:0000322	Short philtrum	6888	TALDO1	OMIM:606003
HP:0000322	Short philtrum	3720	JARID2	OMIM:620098
HP:0000322	Short philtrum	10075	HUWE1	OMIM:309590
HP:0000322	Short philtrum	11160	ERLIN2	ORPHA:280384
HP:0000322	Short philtrum	11160	ERLIN2	ORPHA:209951
HP:0000322	Short philtrum	55217	TMLHE	OMIM:300872
HP:0000322	Short philtrum	8243	SMC1A	OMIM:301044
HP:0000322	Short philtrum	1281	COL3A1	OMIM:618343
HP:0000322	Short philtrum	5898	RALA	OMIM:619311
HP:0000322	Short philtrum	23013	SPEN	OMIM:619312
HP:0000322	Short philtrum	10785	WDR4	OMIM:618346
HP:0000322	Short philtrum	30000	TNPO2	OMIM:619556
HP:0000322	Short philtrum	56896	DPYSL5	OMIM:619435
HP:0000322	Short philtrum	54517	PUS7	OMIM:618342
HP:0000322	Short philtrum	100151683	RNU4ATAC	OMIM:210710
HP:0000322	Short philtrum	29926	GMPPA	OMIM:615510
HP:0000322	Short philtrum	6885	MAP3K7	OMIM:617137
HP:0000322	Short philtrum	23314	SATB2	ORPHA:251028
HP:0000322	Short philtrum	65062	TMEM237	OMIM:614424
HP:0000322	Short philtrum	5745	PTH1R	OMIM:600002
HP:0000322	Short philtrum	5515	PPP2CA	OMIM:618354
HP:0000322	Short philtrum	6651	SON	OMIM:617140
HP:0000322	Short philtrum	6651	SON	ORPHA:500150
HP:0000322	Short philtrum	23030	KDM4B	OMIM:619320
HP:0000322	Short philtrum	2782	GNB1	OMIM:616973
HP:0000322	Short philtrum	55784	MCTP2	ORPHA:1596
HP:0000322	Short philtrum	998	CDC42	OMIM:616737
HP:0000322	Short philtrum	998	CDC42	ORPHA:487796
HP:0000322	Short philtrum	3097	HIVEP2	OMIM:616977
HP:0000322	Short philtrum	51114	ZDHHC9	ORPHA:776
HP:0000322	Short philtrum	65109	UPF3B	ORPHA:776
HP:0000322	Short philtrum	9968	MED12	ORPHA:776
HP:0000322	Short philtrum	9968	MED12	OMIM:309520
HP:0000322	Short philtrum	2067	ERCC1	OMIM:610758
HP:0000322	Short philtrum	9179	AP4M1	OMIM:612936
HP:0000322	Short philtrum	9179	AP4M1	ORPHA:280763
HP:0000322	Short philtrum	10735	STAG2	OMIM:301022
HP:0000322	Short philtrum	57551	TAOK1	OMIM:619575
HP:0000322	Short philtrum	3756	KCNH1	OMIM:135500
HP:0000322	Short philtrum	8260	NAA10	OMIM:300855
HP:0000322	Short philtrum	5530	PPP3CA	OMIM:617711
HP:0000322	Short philtrum	5308	PITX2	OMIM:180500
HP:0000322	Short philtrum	1312	COMT	ORPHA:567
HP:0000322	Short philtrum	221037	JMJD1C	ORPHA:567
HP:0000322	Short philtrum	2812	GP1BB	ORPHA:567
HP:0000322	Short philtrum	6239	RREB1	ORPHA:567
HP:0000322	Short philtrum	7290	HIRA	ORPHA:567
HP:0000322	Short philtrum	9632	SEC24C	ORPHA:567
HP:0000322	Short philtrum	7353	UFD1	ORPHA:567
HP:0000322	Short philtrum	421	ARVCF	ORPHA:567
HP:0000322	Short philtrum	1000	CDH2	OMIM:618929
HP:0000322	Short philtrum	9241	NOG	OMIM:186500
HP:0000322	Short philtrum	6045	RNF2	OMIM:619460
HP:0000322	Short philtrum	23258	DENND5A	OMIM:617281
HP:0000322	Short philtrum	5718	PSMD12	ORPHA:529962
HP:0000322	Short philtrum	2186	BPTF	ORPHA:529962
HP:0000322	Short philtrum	79576	NKAP	OMIM:301039
HP:0000322	Short philtrum	3188	HNRNPH2	OMIM:300986
HP:0000322	Short philtrum	51305	KCNK9	ORPHA:166108
HP:0000322	Short philtrum	51305	KCNK9	OMIM:612292
HP:0000322	Short philtrum	5144	PDE4D	ORPHA:439822
HP:0000322	Short philtrum	92949	ADAMTSL1	ORPHA:521445
HP:0000322	Short philtrum	26040	SETBP1	ORPHA:798
HP:0000322	Short philtrum	158326	FREM1	OMIM:608980
HP:0000322	Short philtrum	50801	KCNK4	OMIM:618381
HP:0000322	Short philtrum	57498	KIDINS220	OMIM:617296
HP:0000322	Short philtrum	10664	CTCF	ORPHA:363611
HP:0000322	Short philtrum	5977	DPF2	OMIM:618027
HP:0000322	Short philtrum	2892	GRIA3	ORPHA:364028
HP:0000322	Short philtrum	6711	SPTBN1	OMIM:619475
HP:0000322	Short philtrum	5702	PSMC3	OMIM:619354
HP:0000322	Short philtrum	54361	WNT4	ORPHA:247768
HP:0000322	Short philtrum	4329	ALDH6A1	OMIM:614105
HP:0000322	Short philtrum	285590	SH3PXD2B	ORPHA:137834
HP:0000322	Short philtrum	259232	NALCN	ORPHA:371364
HP:0000322	Short philtrum	80036	TRPM3	OMIM:620224
HP:0000322	Short philtrum	2132	EXT2	ORPHA:52022
HP:0000322	Short philtrum	60529	ALX4	ORPHA:52022
HP:0000322	Short philtrum	51317	PHF21A	ORPHA:52022
HP:0000322	Short philtrum	7204	TRIO	OMIM:617061
HP:0000322	Short philtrum	8567	MADD	OMIM:619004
HP:0000322	Short philtrum	4841	NONO	OMIM:300967
HP:0000322	Short philtrum	4841	NONO	ORPHA:466791
HP:0000322	Short philtrum	10651	MTX2	OMIM:619127
HP:0000322	Short philtrum	6472	SHMT2	OMIM:619121
HP:0000322	Short philtrum	83737	ITCH	OMIM:613385
HP:0000322	Short philtrum	28952	CCDC22	OMIM:300963
HP:0000322	Short philtrum	91875	TTC5	OMIM:619244
HP:0000322	Short philtrum	6786	STIM1	OMIM:185070
HP:0000322	Short philtrum	2893	GRIA4	OMIM:617864
HP:0000322	Short philtrum	8450	CUL4B	ORPHA:85293
HP:0000322	Short philtrum	7291	TWIST1	OMIM:617746
HP:0000322	Short philtrum	93587	TRMT10A	ORPHA:391408
HP:0000322	Short philtrum	84919	PPP1R15B	ORPHA:391408
HP:0000322	Short philtrum	80267	EDEM3	OMIM:619493
HP:0000322	Short philtrum	54888	NSUN2	OMIM:611091
HP:0000322	Short philtrum	9320	TRIP12	OMIM:617752
HP:0000322	Short philtrum	55023	PHIP	OMIM:617991
HP:0000322	Short philtrum	738	VPS51	OMIM:618606
HP:0000322	Short philtrum	11043	MID2	OMIM:300928
HP:0000322	Short philtrum	84081	NSRP1	OMIM:620001
HP:0000322	Short philtrum	22931	RAB18	ORPHA:2510
HP:0000322	Short philtrum	128637	TBC1D20	ORPHA:2510
HP:0000322	Short philtrum	26123	TCTN3	ORPHA:2753
HP:0000322	Short philtrum	860	RUNX2	OMIM:156510
HP:0000322	Short philtrum	57647	DHX37	OMIM:618731
HP:0000322	Short philtrum	5566	PRKACA	OMIM:619142
HP:0000322	Short philtrum	5567	PRKACB	OMIM:619143
HP:0000322	Short philtrum	2036	EPB41L1	OMIM:614257
HP:0000322	Short philtrum	6929	TCF3	OMIM:619824
HP:0010544	Vertical nystagmus	23556	PIGN	ORPHA:280633
HP:0010544	Vertical nystagmus	4728	NDUFS8	OMIM:618222
HP:0010544	Vertical nystagmus	1892	ECHS1	OMIM:616277
HP:0010544	Vertical nystagmus	100131801	PET100	OMIM:619055
HP:0010544	Vertical nystagmus	60529	ALX4	OMIM:613451
HP:0010544	Vertical nystagmus	54664	TMEM106B	OMIM:617964
HP:0010544	Vertical nystagmus	4361	MRE11	ORPHA:251347
HP:0010544	Vertical nystagmus	9091	PIGQ	OMIM:618548
HP:0010544	Vertical nystagmus	146057	TTBK2	ORPHA:98767
HP:0010544	Vertical nystagmus	773	CACNA1A	ORPHA:98758
HP:0010544	Vertical nystagmus	773	CACNA1A	ORPHA:569
HP:0010544	Vertical nystagmus	5830	PEX5	OMIM:616716
HP:0010544	Vertical nystagmus	112476	PRRT2	ORPHA:569
HP:0010544	Vertical nystagmus	6323	SCN1A	ORPHA:569
HP:0010544	Vertical nystagmus	477	ATP1A2	ORPHA:569
HP:0010544	Vertical nystagmus	7276	TTR	OMIM:105210
HP:0010544	Vertical nystagmus	5981	RFC1	OMIM:614575
HP:0010544	Vertical nystagmus	55129	ANO10	ORPHA:284289
HP:0010544	Vertical nystagmus	55129	ANO10	OMIM:613728
HP:0010544	Vertical nystagmus	2196	FAT2	OMIM:617769
HP:0010544	Vertical nystagmus	27235	COQ2	ORPHA:227510
HP:0010544	Vertical nystagmus	8398	PLA2G6	ORPHA:35069
HP:0010544	Vertical nystagmus	27245	AHDC1	ORPHA:412069
HP:0010544	Vertical nystagmus	2259	FGF14	OMIM:193003
HP:0010543	Opsoclonus	84978	FRMD5	OMIM:620094
HP:0010543	Opsoclonus	23095	KIF1B	OMIM:256700
HP:0010543	Opsoclonus	339453	TMEM240	OMIM:607454
HP:0010543	Opsoclonus	2629	GBA1	ORPHA:2072
HP:0010543	Opsoclonus	10312	TCIRG1	ORPHA:667
HP:0010543	Opsoclonus	1186	CLCN7	ORPHA:667
HP:0010543	Opsoclonus	29887	SNX10	ORPHA:667
HP:0010543	Opsoclonus	8600	TNFSF11	ORPHA:667
HP:0010549	Weakness due to upper motor neuron dysfunction	3912	LAMB1	OMIM:615191
HP:0010549	Weakness due to upper motor neuron dysfunction	23111	SPART	OMIM:275900
HP:0010549	Weakness due to upper motor neuron dysfunction	8504	PEX3	OMIM:617370
HP:0010549	Weakness due to upper motor neuron dysfunction	9420	CYP7B1	ORPHA:100986
HP:0010549	Weakness due to upper motor neuron dysfunction	9420	CYP7B1	OMIM:270800
HP:0010549	Weakness due to upper motor neuron dysfunction	123606	NIPA1	ORPHA:100988
HP:0010549	Weakness due to upper motor neuron dysfunction	123606	NIPA1	OMIM:600363
HP:0010549	Weakness due to upper motor neuron dysfunction	80821	DDHD1	OMIM:609340
HP:0010549	Weakness due to upper motor neuron dysfunction	4125	MAN2B1	ORPHA:309282
HP:0010549	Weakness due to upper motor neuron dysfunction	6567	SLC16A2	OMIM:300523
HP:0010549	Weakness due to upper motor neuron dysfunction	81790	RNF170	OMIM:619686
HP:0010549	Weakness due to upper motor neuron dysfunction	55182	RNF220	OMIM:619688
HP:0010549	Weakness due to upper motor neuron dysfunction	518	ATP5MC3	OMIM:619681
HP:0010549	Weakness due to upper motor neuron dysfunction	5077	PAX3	ORPHA:896
HP:0010549	Weakness due to upper motor neuron dysfunction	5077	PAX3	OMIM:148820
HP:0010549	Weakness due to upper motor neuron dysfunction	10166	SLC25A15	ORPHA:415
HP:0010549	Weakness due to upper motor neuron dysfunction	10166	SLC25A15	OMIM:238970
HP:0010549	Weakness due to upper motor neuron dysfunction	25778	DSTYK	OMIM:270750
HP:0010549	Weakness due to upper motor neuron dysfunction	25778	DSTYK	ORPHA:101003
HP:0010549	Weakness due to upper motor neuron dysfunction	51324	SPG21	OMIM:248900
HP:0010549	Weakness due to upper motor neuron dysfunction	10342	TFG	ORPHA:431329
HP:0010549	Weakness due to upper motor neuron dysfunction	10342	TFG	OMIM:615658
HP:0010549	Weakness due to upper motor neuron dysfunction	4204	MECP2	OMIM:300055
HP:0010549	Weakness due to upper motor neuron dysfunction	5832	ALDH18A1	OMIM:616586
HP:0010549	Weakness due to upper motor neuron dysfunction	5832	ALDH18A1	OMIM:601162
HP:0010549	Weakness due to upper motor neuron dysfunction	64834	ELOVL1	OMIM:618527
HP:0010549	Weakness due to upper motor neuron dysfunction	118813	ZFYVE27	OMIM:610244
HP:0010549	Weakness due to upper motor neuron dysfunction	7920	ABHD16A	OMIM:619735
HP:0010549	Weakness due to upper motor neuron dysfunction	114034	TOE1	OMIM:614969
HP:0010549	Weakness due to upper motor neuron dysfunction	6843	VAMP1	OMIM:108600
HP:0010549	Weakness due to upper motor neuron dysfunction	6843	VAMP1	ORPHA:251282
HP:0010549	Weakness due to upper motor neuron dysfunction	546	ATRX	ORPHA:847
HP:0010549	Weakness due to upper motor neuron dysfunction	823	CAPN1	OMIM:616907
HP:0010549	Weakness due to upper motor neuron dysfunction	1130	LYST	ORPHA:167
HP:0010549	Weakness due to upper motor neuron dysfunction	26154	ABCA12	OMIM:601277
HP:0010549	Weakness due to upper motor neuron dysfunction	57599	WDR48	ORPHA:401800
HP:0010549	Weakness due to upper motor neuron dysfunction	776	CACNA1D	ORPHA:369929
HP:0010549	Weakness due to upper motor neuron dysfunction	113612	CYP2U1	OMIM:615030
HP:0010549	Weakness due to upper motor neuron dysfunction	113612	CYP2U1	ORPHA:320411
HP:0010549	Weakness due to upper motor neuron dysfunction	9895	TECPR2	OMIM:615031
HP:0010549	Weakness due to upper motor neuron dysfunction	91574	MTRFR	OMIM:615035
HP:0010549	Weakness due to upper motor neuron dysfunction	23259	DDHD2	OMIM:615033
HP:0010549	Weakness due to upper motor neuron dysfunction	23259	DDHD2	ORPHA:320380
HP:0010549	Weakness due to upper motor neuron dysfunction	56270	WDR45B	OMIM:617977
HP:0010549	Weakness due to upper motor neuron dysfunction	22978	NT5C2	ORPHA:320396
HP:0010549	Weakness due to upper motor neuron dysfunction	22978	NT5C2	OMIM:613162
HP:0010549	Weakness due to upper motor neuron dysfunction	23064	SETX	ORPHA:357043
HP:0010549	Weakness due to upper motor neuron dysfunction	953	ENTPD1	OMIM:615683
HP:0010549	Weakness due to upper motor neuron dysfunction	83636	C19orf12	OMIM:615043
HP:0010549	Weakness due to upper motor neuron dysfunction	23204	ARL6IP1	OMIM:615685
HP:0010549	Weakness due to upper motor neuron dysfunction	271	AMPD2	OMIM:615686
HP:0010549	Weakness due to upper motor neuron dysfunction	9101	USP8	ORPHA:401795
HP:0010549	Weakness due to upper motor neuron dysfunction	2629	GBA1	ORPHA:2072
HP:0010549	Weakness due to upper motor neuron dysfunction	4099	MAG	ORPHA:459056
HP:0010549	Weakness due to upper motor neuron dysfunction	3329	HSPD1	OMIM:605280
HP:0010549	Weakness due to upper motor neuron dysfunction	3329	HSPD1	ORPHA:100994
HP:0010549	Weakness due to upper motor neuron dysfunction	3329	HSPD1	OMIM:612233
HP:0010549	Weakness due to upper motor neuron dysfunction	57704	GBA2	OMIM:614409
HP:0010549	Weakness due to upper motor neuron dysfunction	8139	GAN	OMIM:256850
HP:0010549	Weakness due to upper motor neuron dysfunction	84842	HPDL	OMIM:619026
HP:0010549	Weakness due to upper motor neuron dysfunction	84842	HPDL	OMIM:619027
HP:0010549	Weakness due to upper motor neuron dysfunction	84706	GPT2	ORPHA:477673
HP:0010549	Weakness due to upper motor neuron dysfunction	55656	INTS8	OMIM:618572
HP:0010549	Weakness due to upper motor neuron dysfunction	2583	B4GALNT1	OMIM:609195
HP:0010549	Weakness due to upper motor neuron dysfunction	51308	REEP2	OMIM:615625
HP:0010549	Weakness due to upper motor neuron dysfunction	57165	GJC2	OMIM:613206
HP:0010549	Weakness due to upper motor neuron dysfunction	137492	VPS37A	OMIM:614898
HP:0010549	Weakness due to upper motor neuron dysfunction	3798	KIF5A	OMIM:604187
HP:0010549	Weakness due to upper motor neuron dysfunction	5654	HTRA1	ORPHA:199354
HP:0010549	Weakness due to upper motor neuron dysfunction	4558	MT-TF	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4558	MT-TF	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4572	MT-TQ	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4572	MT-TQ	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4512	MT-CO1	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4512	MT-CO1	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4513	MT-CO2	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4513	MT-CO2	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4514	MT-CO3	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4514	MT-CO3	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4578	MT-TW	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4578	MT-TW	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4540	MT-ND5	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4540	MT-ND5	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4541	MT-ND6	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4541	MT-ND6	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4535	MT-ND1	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4535	MT-ND1	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4538	MT-ND4	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4574	MT-TS1	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4574	MT-TS1	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4575	MT-TS2	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4575	MT-TS2	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4564	MT-TH	ORPHA:550
HP:0010549	Weakness due to upper motor neuron dysfunction	4524	MTHFR	ORPHA:395
HP:0010549	Weakness due to upper motor neuron dysfunction	2982	GUCY1A1	OMIM:615750
HP:0010549	Weakness due to upper motor neuron dysfunction	8314	BAP1	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	4771	NF2	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	4771	NF2	ORPHA:637
HP:0010549	Weakness due to upper motor neuron dysfunction	5155	PDGFB	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	84231	TRAF7	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	6608	SMO	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	207	AKT1	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	7015	TERT	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	51684	SUFU	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	6605	SMARCE1	ORPHA:2495
HP:0010549	Weakness due to upper motor neuron dysfunction	23600	AMACR	OMIM:614307
HP:0010549	Weakness due to upper motor neuron dysfunction	7174	TPP2	ORPHA:444463
HP:0010549	Weakness due to upper motor neuron dysfunction	8405	SPOP	OMIM:618829
HP:0010549	Weakness due to upper motor neuron dysfunction	2475	MTOR	ORPHA:99802
HP:0010549	Weakness due to upper motor neuron dysfunction	2475	MTOR	OMIM:607341
HP:0010549	Weakness due to upper motor neuron dysfunction	10000	AKT3	ORPHA:99802
HP:0010549	Weakness due to upper motor neuron dysfunction	10551	AGR2	OMIM:620233
HP:0010549	Weakness due to upper motor neuron dysfunction	3516	RBPJ	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	4851	NOTCH1	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	57514	ARHGAP31	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	57572	DOCK6	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	285203	EOGT	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	54567	DLL4	ORPHA:974
HP:0010549	Weakness due to upper motor neuron dysfunction	10059	DNM1L	ORPHA:98673
HP:0010549	Weakness due to upper motor neuron dysfunction	4976	OPA1	ORPHA:98673
HP:0010549	Weakness due to upper motor neuron dysfunction	4511	MT-TC	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4566	MT-TK	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	4577	MT-TV	OMIM:540000
HP:0010549	Weakness due to upper motor neuron dysfunction	6513	SLC2A1	OMIM:606777
HP:0010549	Weakness due to upper motor neuron dysfunction	6513	SLC2A1	ORPHA:71277
HP:0010549	Weakness due to upper motor neuron dysfunction	23221	RHOBTB2	OMIM:618004
HP:0010549	Weakness due to upper motor neuron dysfunction	9692	PRORP	OMIM:619737
HP:0010549	Weakness due to upper motor neuron dysfunction	340665	CYP26C1	ORPHA:398189
HP:0010549	Weakness due to upper motor neuron dysfunction	3119	HLA-DQB1	OMIM:123400
HP:0010549	Weakness due to upper motor neuron dysfunction	3265	HRAS	ORPHA:2874
HP:0010549	Weakness due to upper motor neuron dysfunction	7248	TSC1	OMIM:607341
HP:0010549	Weakness due to upper motor neuron dysfunction	7249	TSC2	OMIM:607341
HP:0010549	Weakness due to upper motor neuron dysfunction	6899	TBX1	OMIM:188400
HP:0010549	Weakness due to upper motor neuron dysfunction	7098	TLR3	OMIM:613002
HP:0010549	Weakness due to upper motor neuron dysfunction	3075	CFH	OMIM:235400
HP:0010549	Weakness due to upper motor neuron dysfunction	3078	CFHR1	OMIM:235400
HP:0010549	Weakness due to upper motor neuron dysfunction	10878	CFHR3	OMIM:235400
HP:0010549	Weakness due to upper motor neuron dysfunction	55901	THSD1	ORPHA:231160
HP:0010549	Weakness due to upper motor neuron dysfunction	7049	TGFBR3	ORPHA:231160
HP:0010549	Weakness due to upper motor neuron dysfunction	1281	COL3A1	ORPHA:231160
HP:0010549	Weakness due to upper motor neuron dysfunction	83854	ANGPTL6	ORPHA:231160
HP:0010549	Weakness due to upper motor neuron dysfunction	2022	ENG	ORPHA:231160
HP:0010549	Weakness due to upper motor neuron dysfunction	149233	IL23R	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	3586	IL10	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	4210	MEFV	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	1230	CCR1	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	355	FAS	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	3592	IL12A	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	101928376	IL12A-AS1	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	3106	HLA-B	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	7099	TLR4	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	3459	IFNGR1	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	720	C4A	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	337867	UBAC2	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	51752	ERAP1	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	8302	KLRC4	ORPHA:117
HP:0010549	Weakness due to upper motor neuron dysfunction	84065	TMEM222	OMIM:619470
HP:0010549	Weakness due to upper motor neuron dysfunction	5354	PLP1	ORPHA:280224
HP:0010549	Weakness due to upper motor neuron dysfunction	5354	PLP1	ORPHA:280219
HP:0010549	Weakness due to upper motor neuron dysfunction	3763	KCNJ6	ORPHA:435628
HP:0010549	Weakness due to upper motor neuron dysfunction	3763	KCNJ6	OMIM:614098
HP:0010549	Weakness due to upper motor neuron dysfunction	11340	EXOSC8	OMIM:616081
HP:0010549	Weakness due to upper motor neuron dysfunction	8243	SMC1A	OMIM:301044
HP:0010549	Weakness due to upper motor neuron dysfunction	10617	STAMBP	OMIM:614261
HP:0010549	Weakness due to upper motor neuron dysfunction	51399	TRAPPC4	OMIM:618741
HP:0010549	Weakness due to upper motor neuron dysfunction	84879	MFSD2A	OMIM:616486
HP:0010549	Weakness due to upper motor neuron dysfunction	6659	SOX4	OMIM:618506
HP:0010549	Weakness due to upper motor neuron dysfunction	4337	MOCS1	OMIM:252150
HP:0010549	Weakness due to upper motor neuron dysfunction	7355	SLC35A2	ORPHA:356961
HP:0010549	Weakness due to upper motor neuron dysfunction	84334	COA8	ORPHA:436271
HP:0010549	Weakness due to upper motor neuron dysfunction	84334	COA8	OMIM:619061
HP:0010549	Weakness due to upper motor neuron dysfunction	90624	LYRM7	OMIM:615838
HP:0010549	Weakness due to upper motor neuron dysfunction	57679	ALS2	OMIM:606353
HP:0010549	Weakness due to upper motor neuron dysfunction	57679	ALS2	ORPHA:247604
HP:0010549	Weakness due to upper motor neuron dysfunction	57679	ALS2	OMIM:205100
HP:0010549	Weakness due to upper motor neuron dysfunction	6571	SLC18A2	ORPHA:352649
HP:0010549	Weakness due to upper motor neuron dysfunction	11160	ERLIN2	ORPHA:247604
HP:0010549	Weakness due to upper motor neuron dysfunction	5660	PSAP	OMIM:249900
HP:0010549	Weakness due to upper motor neuron dysfunction	60558	GUF1	OMIM:617065
HP:0010549	Weakness due to upper motor neuron dysfunction	6647	SOD1	OMIM:618598
HP:0010549	Weakness due to upper motor neuron dysfunction	51601	LIPT1	OMIM:616299
HP:0010549	Weakness due to upper motor neuron dysfunction	549	AUH	ORPHA:67046
HP:0010549	Weakness due to upper motor neuron dysfunction	6905	TBCE	ORPHA:496756
HP:0010549	Weakness due to upper motor neuron dysfunction	387787	LIPT2	OMIM:617668
HP:0010549	Weakness due to upper motor neuron dysfunction	4010	LMX1B	ORPHA:495818
HP:0010549	Weakness due to upper motor neuron dysfunction	6812	STXBP1	ORPHA:495818
HP:0010549	Weakness due to upper motor neuron dysfunction	10157	AASS	ORPHA:2203
HP:0010549	Weakness due to upper motor neuron dysfunction	79152	FA2H	ORPHA:171629
HP:0010549	Weakness due to upper motor neuron dysfunction	79152	FA2H	OMIM:612319
HP:0010549	Weakness due to upper motor neuron dysfunction	5048	PAFAH1B1	OMIM:607432
HP:0010549	Weakness due to upper motor neuron dysfunction	79944	L2HGDH	OMIM:236792
HP:0010549	Weakness due to upper motor neuron dysfunction	79944	L2HGDH	ORPHA:79314
HP:0010549	Weakness due to upper motor neuron dysfunction	2192	FBLN1	ORPHA:404451
HP:0010549	Weakness due to upper motor neuron dysfunction	284403	WDR62	OMIM:604317
HP:0010549	Weakness due to upper motor neuron dysfunction	51204	TACO1	OMIM:619052
HP:0010549	Weakness due to upper motor neuron dysfunction	2937	GSS	OMIM:266130
HP:0010549	Weakness due to upper motor neuron dysfunction	65055	REEP1	ORPHA:101011
HP:0010549	Weakness due to upper motor neuron dysfunction	348	APOE	OMIM:607822
HP:0010549	Weakness due to upper motor neuron dysfunction	5663	PSEN1	OMIM:607822
HP:0010549	Weakness due to upper motor neuron dysfunction	4001	LMNB1	OMIM:619179
HP:0010549	Weakness due to upper motor neuron dysfunction	4508	MT-ATP6	ORPHA:225154
HP:0010549	Weakness due to upper motor neuron dysfunction	23636	NUP62	ORPHA:225154
HP:0010549	Weakness due to upper motor neuron dysfunction	7143	TNR	OMIM:619653
HP:0010549	Weakness due to upper motor neuron dysfunction	3899	AFF3	OMIM:619297
HP:0010549	Weakness due to upper motor neuron dysfunction	6389	SDHA	ORPHA:3208
HP:0010549	Weakness due to upper motor neuron dysfunction	6390	SDHB	ORPHA:3208
HP:0010549	Weakness due to upper motor neuron dysfunction	6392	SDHD	ORPHA:3208
HP:0010549	Weakness due to upper motor neuron dysfunction	644096	SDHAF1	ORPHA:3208
HP:0010549	Weakness due to upper motor neuron dysfunction	29960	MRM2	OMIM:618567
HP:0010549	Weakness due to upper motor neuron dysfunction	8398	PLA2G6	ORPHA:35069
HP:0010549	Weakness due to upper motor neuron dysfunction	10195	ALG3	ORPHA:79321
HP:0010549	Weakness due to upper motor neuron dysfunction	10195	ALG3	OMIM:601110
HP:0010549	Weakness due to upper motor neuron dysfunction	124454	EARS2	OMIM:614924
HP:0010549	Weakness due to upper motor neuron dysfunction	29968	PSAT1	ORPHA:284417
HP:0010549	Weakness due to upper motor neuron dysfunction	27247	NFU1	OMIM:605711
HP:0010549	Weakness due to upper motor neuron dysfunction	1968	EIF2S3	OMIM:300148
HP:0010549	Weakness due to upper motor neuron dysfunction	58497	PRUNE1	OMIM:617481
HP:0010549	Weakness due to upper motor neuron dysfunction	58497	PRUNE1	ORPHA:544469
HP:0010549	Weakness due to upper motor neuron dysfunction	84188	FAR1	ORPHA:438178
HP:0010549	Weakness due to upper motor neuron dysfunction	84188	FAR1	OMIM:616154
HP:0010549	Weakness due to upper motor neuron dysfunction	221692	PHACTR1	OMIM:618298
HP:0010549	Weakness due to upper motor neuron dysfunction	523	ATP6V1A	OMIM:618012
HP:0010549	Weakness due to upper motor neuron dysfunction	3785	KCNQ2	OMIM:613720
HP:0010549	Weakness due to upper motor neuron dysfunction	56978	PRDM8	ORPHA:324290
HP:0010549	Weakness due to upper motor neuron dysfunction	54808	DYM	ORPHA:239
HP:0010549	Weakness due to upper motor neuron dysfunction	2760	GM2A	OMIM:272750
HP:0010549	Weakness due to upper motor neuron dysfunction	3028	HSD17B10	ORPHA:391428
HP:0010549	Weakness due to upper motor neuron dysfunction	9131	AIFM1	OMIM:300232
HP:0010549	Weakness due to upper motor neuron dysfunction	3094	HINT1	ORPHA:324442
HP:0010549	Weakness due to upper motor neuron dysfunction	4750	NEK1	OMIM:617892
HP:0010549	Weakness due to upper motor neuron dysfunction	51728	POLR3K	OMIM:619310
HP:0010549	Weakness due to upper motor neuron dysfunction	10564	ARFGEF2	OMIM:608097
HP:0010549	Weakness due to upper motor neuron dysfunction	4860	PNP	OMIM:613179
HP:0010549	Weakness due to upper motor neuron dysfunction	4038	LRP4	OMIM:614305
HP:0010549	Weakness due to upper motor neuron dysfunction	7360	UGP2	OMIM:618744
HP:0010549	Weakness due to upper motor neuron dysfunction	8050	PDHX	ORPHA:255182
HP:0010549	Weakness due to upper motor neuron dysfunction	26580	BSCL2	ORPHA:363400
HP:0010549	Weakness due to upper motor neuron dysfunction	26580	BSCL2	OMIM:615924
HP:0010549	Weakness due to upper motor neuron dysfunction	2571	GAD1	OMIM:619124
HP:0010549	Weakness due to upper motor neuron dysfunction	128240	NAXE	OMIM:617186
HP:0010549	Weakness due to upper motor neuron dysfunction	79587	CARS2	ORPHA:477774
HP:0010549	Weakness due to upper motor neuron dysfunction	79587	CARS2	OMIM:616672
HP:0010549	Weakness due to upper motor neuron dysfunction	4722	NDUFS3	OMIM:618230
HP:0010549	Weakness due to upper motor neuron dysfunction	23287	AGTPBP1	OMIM:618276
HP:0010549	Weakness due to upper motor neuron dysfunction	347733	TUBB2B	OMIM:610031
HP:0010549	Weakness due to upper motor neuron dysfunction	6506	SLC1A2	OMIM:617105
HP:0010549	Weakness due to upper motor neuron dysfunction	7345	UCHL1	OMIM:615491
HP:0010549	Weakness due to upper motor neuron dysfunction	340533	NEXMIF	ORPHA:85277
HP:0010549	Weakness due to upper motor neuron dysfunction	1757	SARDH	ORPHA:3129
HP:0010549	Weakness due to upper motor neuron dysfunction	55679	LIMS2	OMIM:616827
HP:0010549	Weakness due to upper motor neuron dysfunction	2632	GBE1	OMIM:263570
HP:0010549	Weakness due to upper motor neuron dysfunction	1468	SLC25A10	OMIM:618972
HP:0010549	Weakness due to upper motor neuron dysfunction	5498	PPOX	ORPHA:79473
HP:0010549	Weakness due to upper motor neuron dysfunction	760	CA2	ORPHA:2785
HP:0010549	Weakness due to upper motor neuron dysfunction	4854	NOTCH3	ORPHA:136
HP:0010549	Weakness due to upper motor neuron dysfunction	51816	ADA2	OMIM:182410
HP:0010549	Weakness due to upper motor neuron dysfunction	51816	ADA2	OMIM:615688
HP:0010549	Weakness due to upper motor neuron dysfunction	158	ADSL	OMIM:103050
HP:0010549	Weakness due to upper motor neuron dysfunction	727676	SNORD118	OMIM:614561
HP:0010549	Weakness due to upper motor neuron dysfunction	1284	COL4A2	OMIM:614483
HP:0010549	Weakness due to upper motor neuron dysfunction	6331	SCN5A	ORPHA:1344
HP:0010549	Weakness due to upper motor neuron dysfunction	4878	NPPA	ORPHA:1344
HP:0010549	Weakness due to upper motor neuron dysfunction	4519	MT-CYB	ORPHA:137675
HP:0010549	Weakness due to upper motor neuron dysfunction	478	ATP1A3	OMIM:614820
HP:0010549	Weakness due to upper motor neuron dysfunction	2260	FGFR1	ORPHA:2396
HP:0010549	Weakness due to upper motor neuron dysfunction	3845	KRAS	ORPHA:2396
HP:0010549	Weakness due to upper motor neuron dysfunction	1282	COL4A1	OMIM:175780
HP:0010549	Weakness due to upper motor neuron dysfunction	6775	STAT4	ORPHA:93552
HP:0010549	Weakness due to upper motor neuron dysfunction	6696	SPP1	ORPHA:93552
HP:0010549	Weakness due to upper motor neuron dysfunction	3654	IRAK1	ORPHA:93552
HP:0010549	Weakness due to upper motor neuron dysfunction	1493	CTLA4	ORPHA:900
HP:0010549	Weakness due to upper motor neuron dysfunction	26191	PTPN22	ORPHA:900
HP:0010549	Weakness due to upper motor neuron dysfunction	3115	HLA-DPB1	ORPHA:900
HP:0010549	Weakness due to upper motor neuron dysfunction	5657	PRTN3	ORPHA:900
HP:0010549	Weakness due to upper motor neuron dysfunction	3113	HLA-DPA1	ORPHA:900
HP:0010549	Weakness due to upper motor neuron dysfunction	2776	GNAQ	ORPHA:624
HP:0010549	Weakness due to upper motor neuron dysfunction	773	CACNA1A	ORPHA:569
HP:0010549	Weakness due to upper motor neuron dysfunction	773	CACNA1A	ORPHA:97
HP:0010549	Weakness due to upper motor neuron dysfunction	773	CACNA1A	OMIM:141500
HP:0010549	Weakness due to upper motor neuron dysfunction	112476	PRRT2	ORPHA:569
HP:0010549	Weakness due to upper motor neuron dysfunction	6323	SCN1A	ORPHA:569
HP:0010549	Weakness due to upper motor neuron dysfunction	6323	SCN1A	OMIM:609634
HP:0010549	Weakness due to upper motor neuron dysfunction	477	ATP1A2	ORPHA:569
HP:0010549	Weakness due to upper motor neuron dysfunction	477	ATP1A2	OMIM:602481
HP:0010549	Weakness due to upper motor neuron dysfunction	6821	SUOX	OMIM:272300
HP:0010549	Weakness due to upper motor neuron dysfunction	6507	SLC1A3	ORPHA:209967
HP:0010549	Weakness due to upper motor neuron dysfunction	6507	SLC1A3	OMIM:612656
HP:0010549	Weakness due to upper motor neuron dysfunction	5551	PRF1	OMIM:603553
HP:0010549	Weakness due to upper motor neuron dysfunction	81704	DOCK8	OMIM:243700
HP:0010549	Weakness due to upper motor neuron dysfunction	2581	GALC	ORPHA:206443
HP:0010549	Weakness due to upper motor neuron dysfunction	2581	GALC	ORPHA:206448
HP:0010549	Weakness due to upper motor neuron dysfunction	170302	ARX	ORPHA:3175
HP:0010549	Weakness due to upper motor neuron dysfunction	80169	CTC1	OMIM:612199
HP:0010549	Weakness due to upper motor neuron dysfunction	50485	SMARCAL1	ORPHA:1830
HP:0010549	Weakness due to upper motor neuron dysfunction	57465	TBC1D24	ORPHA:352596
HP:0010549	Weakness due to upper motor neuron dysfunction	2782	GNB1	OMIM:616973
HP:0010549	Weakness due to upper motor neuron dysfunction	5053	PAH	ORPHA:79254
HP:0010549	Weakness due to upper motor neuron dysfunction	84265	POLR3GL	OMIM:619234
HP:0010549	Weakness due to upper motor neuron dysfunction	10159	ATP6AP2	ORPHA:363654
HP:0010549	Weakness due to upper motor neuron dysfunction	55532	SLC30A10	ORPHA:309854
HP:0010549	Weakness due to upper motor neuron dysfunction	55532	SLC30A10	OMIM:613280
HP:0010549	Weakness due to upper motor neuron dysfunction	9255	AIMP1	OMIM:260600
HP:0010549	Weakness due to upper motor neuron dysfunction	3425	IDUA	ORPHA:93474
HP:0010549	Weakness due to upper motor neuron dysfunction	3425	IDUA	ORPHA:93473
HP:0010549	Weakness due to upper motor neuron dysfunction	54880	BCOR	OMIM:300166
HP:0010549	Weakness due to upper motor neuron dysfunction	2670	GFAP	ORPHA:363722
HP:0010549	Weakness due to upper motor neuron dysfunction	440193	CCDC88C	OMIM:616053
HP:0010549	Weakness due to upper motor neuron dysfunction	440193	CCDC88C	ORPHA:423275
HP:0010549	Weakness due to upper motor neuron dysfunction	80207	OPA3	ORPHA:67047
HP:0010549	Weakness due to upper motor neuron dysfunction	125988	MICOS13	ORPHA:67047
HP:0010549	Weakness due to upper motor neuron dysfunction	80347	COASY	OMIM:615643
HP:0010549	Weakness due to upper motor neuron dysfunction	80347	COASY	ORPHA:397725
HP:0010549	Weakness due to upper motor neuron dysfunction	9409	PEX16	OMIM:614877
HP:0010549	Weakness due to upper motor neuron dysfunction	1910	EDNRB	OMIM:277580
HP:0010549	Weakness due to upper motor neuron dysfunction	11152	WDR45	ORPHA:329284
HP:0010549	Weakness due to upper motor neuron dysfunction	11152	WDR45	OMIM:300894
HP:0010549	Weakness due to upper motor neuron dysfunction	93587	TRMT10A	ORPHA:391408
HP:0010549	Weakness due to upper motor neuron dysfunction	84919	PPP1R15B	ORPHA:391408
HP:0010549	Weakness due to upper motor neuron dysfunction	55149	MTPAP	OMIM:613672
HP:0010549	Weakness due to upper motor neuron dysfunction	55149	MTPAP	ORPHA:254343
HP:0010549	Weakness due to upper motor neuron dysfunction	10939	AFG3L2	OMIM:614487
HP:0010549	Weakness due to upper motor neuron dysfunction	10939	AFG3L2	ORPHA:313772
HP:0010549	Weakness due to upper motor neuron dysfunction	2806	GOT2	OMIM:618721
HP:0010549	Weakness due to upper motor neuron dysfunction	686	BTD	ORPHA:79241
HP:0010549	Weakness due to upper motor neuron dysfunction	23389	MED13L	ORPHA:369891
HP:0010549	Weakness due to upper motor neuron dysfunction	224	ALDH3A2	OMIM:270200
HP:0010549	Weakness due to upper motor neuron dysfunction	427	ASAH1	ORPHA:333
HP:0010549	Weakness due to upper motor neuron dysfunction	1593	CYP27A1	ORPHA:909
HP:0010549	Weakness due to upper motor neuron dysfunction	1213	CLTC	OMIM:617854
HP:0010549	Weakness due to upper motor neuron dysfunction	54902	TTC19	OMIM:615157
HP:0010549	Weakness due to upper motor neuron dysfunction	9289	ADGRG1	ORPHA:98889
HP:0010549	Weakness due to upper motor neuron dysfunction	5297	PI4KA	ORPHA:98889
HP:0010549	Weakness due to upper motor neuron dysfunction	27286	SRPX2	ORPHA:98889
HP:0010549	Weakness due to upper motor neuron dysfunction	5428	POLG	ORPHA:726
HP:0010549	Weakness due to upper motor neuron dysfunction	3431	SP110	ORPHA:79124
HP:0010549	Weakness due to upper motor neuron dysfunction	80704	SLC19A3	OMIM:607483
HP:0010549	Weakness due to upper motor neuron dysfunction	203228	C9orf72	OMIM:105550
HP:0010549	Weakness due to upper motor neuron dysfunction	23400	ATP13A2	OMIM:606693
HP:0010549	Weakness due to upper motor neuron dysfunction	5631	PRPS1	ORPHA:99014
HP:0010549	Weakness due to upper motor neuron dysfunction	4763	NF1	OMIM:162210
HP:0010549	Weakness due to upper motor neuron dysfunction	215	ABCD1	OMIM:300100
HP:0010549	Weakness due to upper motor neuron dysfunction	2705	GJB1	OMIM:302800
HP:0010549	Weakness due to upper motor neuron dysfunction	80208	SPG11	ORPHA:2822
HP:0010549	Weakness due to upper motor neuron dysfunction	80199	FUZ	ORPHA:1136
HP:0010549	Weakness due to upper motor neuron dysfunction	8792	TNFRSF11A	OMIM:602080
HP:0010549	Weakness due to upper motor neuron dysfunction	498	ATP5F1A	OMIM:620358
HP:0010549	Weakness due to upper motor neuron dysfunction	2697	GJA1	OMIM:164200
HP:0010549	Weakness due to upper motor neuron dysfunction	2593	GAMT	OMIM:612736
HP:0010549	Weakness due to upper motor neuron dysfunction	6904	TBCD	ORPHA:496641
HP:0010549	Weakness due to upper motor neuron dysfunction	4702	NDUFA8	OMIM:619272
HP:0010549	Weakness due to upper motor neuron dysfunction	10134	BCAP31	OMIM:300475
HP:0010549	Weakness due to upper motor neuron dysfunction	10134	BCAP31	ORPHA:369939
HP:0010549	Weakness due to upper motor neuron dysfunction	11284	PNKP	OMIM:616267
HP:0010549	Weakness due to upper motor neuron dysfunction	22845	DOLK	OMIM:610768
HP:0010549	Weakness due to upper motor neuron dysfunction	100134444	KCNJ18	ORPHA:79102
HP:0010549	Weakness due to upper motor neuron dysfunction	2556	GABRA3	ORPHA:79102
HP:0010549	Weakness due to upper motor neuron dysfunction	779	CACNA1S	ORPHA:79102
HP:0010549	Weakness due to upper motor neuron dysfunction	701	BUB1B	OMIM:257300
HP:0010549	Weakness due to upper motor neuron dysfunction	5903	RANBP2	OMIM:608033
HP:0010549	Weakness due to upper motor neuron dysfunction	56246	MRAP	ORPHA:361
HP:0010549	Weakness due to upper motor neuron dysfunction	6770	STAR	ORPHA:361
HP:0010549	Weakness due to upper motor neuron dysfunction	4158	MC2R	ORPHA:361
HP:0010549	Weakness due to upper motor neuron dysfunction	23530	NNT	ORPHA:361
HP:0010549	Weakness due to upper motor neuron dysfunction	10587	TXNRD2	ORPHA:361
HP:0010549	Weakness due to upper motor neuron dysfunction	54828	BCAS3	OMIM:619641
HP:0010549	Weakness due to upper motor neuron dysfunction	374354	NHLRC2	OMIM:618278
HP:0010549	Weakness due to upper motor neuron dysfunction	133686	NADK2	OMIM:616034
HP:0010549	Weakness due to upper motor neuron dysfunction	51693	TRAPPC2L	OMIM:618331
HP:0010549	Weakness due to upper motor neuron dysfunction	1806	DPYD	OMIM:274270
HP:0010549	Weakness due to upper motor neuron dysfunction	57582	KCNT1	OMIM:614959
HP:0010549	Weakness due to upper motor neuron dysfunction	410	ARSA	OMIM:250100
HP:0010549	Weakness due to upper motor neuron dysfunction	1374	CPT1A	ORPHA:156
HP:0010549	Weakness due to upper motor neuron dysfunction	3251	HPRT1	ORPHA:510
HP:0010549	Weakness due to upper motor neuron dysfunction	4594	MMUT	ORPHA:289916
HP:0010549	Weakness due to upper motor neuron dysfunction	875	CBS	ORPHA:394
HP:0010549	Weakness due to upper motor neuron dysfunction	3769	KCNJ13	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	343035	RD3	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	145226	RDH12	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	1406	CRX	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	64802	NMNAT1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	57096	RPGRIP1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	80184	CEP290	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	10383	TUBB4B	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	9742	IFT140	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	85015	USP45	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	6121	RPE65	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	23418	CRB1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	5130	PCYT1A	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	9657	IQCB1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	392255	GDF6	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	392255	GDF6	ORPHA:2345
HP:0010549	Weakness due to upper motor neuron dysfunction	23746	AIPL1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	3000	GUCY2D	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	9227	LRAT	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	55812	SPATA7	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	7287	TULP1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	167691	LCA5	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	3614	IMPDH1	ORPHA:65
HP:0010549	Weakness due to upper motor neuron dysfunction	7157	TP53	ORPHA:2807
HP:0010549	Weakness due to upper motor neuron dysfunction	5590	PRKCZ	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	2563	GABRD	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	23013	SPEN	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	8510	MMP23B	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	7798	LUZP1	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	6497	SKI	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	10630	PDPN	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	3339	HSPG2	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	10277	UBE4B	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	8514	KCNAB2	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	473	RERE	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	63976	PRDM16	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	54897	CASZ1	ORPHA:1606
HP:0010549	Weakness due to upper motor neuron dysfunction	1776	DNASE1L3	ORPHA:36412
HP:0010549	Weakness due to upper motor neuron dysfunction	148789	B3GALNT2	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	29925	GMPPB	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	79147	FKRP	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	9215	LARGE1	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	29954	POMT2	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	2218	FKTN	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	55624	POMGNT1	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	10585	POMT1	ORPHA:588
HP:0010549	Weakness due to upper motor neuron dysfunction	8517	IKBKG	ORPHA:464
HP:0010549	Weakness due to upper motor neuron dysfunction	4072	EPCAM	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	4292	MLH1	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	5395	PMS2	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	27030	MLH3	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	22909	FAN1	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	7048	TGFBR2	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	5290	PIK3CA	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	2956	MSH6	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	5378	PMS1	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	4436	MSH2	ORPHA:144
HP:0010549	Weakness due to upper motor neuron dysfunction	64218	SEMA4A	ORPHA:440437
HP:0010549	Weakness due to upper motor neuron dysfunction	657	BMPR1A	ORPHA:440437
HP:0010549	Weakness due to upper motor neuron dysfunction	6224	RPS20	ORPHA:440437
HP:0010549	Weakness due to upper motor neuron dysfunction	6598	SMARCB1	ORPHA:99966
HP:0010549	Weakness due to upper motor neuron dysfunction	5264	PHYH	ORPHA:773
HP:0010549	Weakness due to upper motor neuron dysfunction	5191	PEX7	ORPHA:773
HP:0010549	Weakness due to upper motor neuron dysfunction	5159	PDGFRB	ORPHA:2591
HP:0010549	Weakness due to upper motor neuron dysfunction	7274	TTPA	ORPHA:96
HP:0010549	Weakness due to upper motor neuron dysfunction	54476	RNF216	ORPHA:1173
HP:0010549	Weakness due to upper motor neuron dysfunction	10908	PNPLA6	ORPHA:1173
HP:0010549	Weakness due to upper motor neuron dysfunction	4509	MT-ATP8	ORPHA:480
HP:0010549	Weakness due to upper motor neuron dysfunction	4567	MT-TL1	ORPHA:480
HP:0010549	Weakness due to upper motor neuron dysfunction	50484	RRM2B	ORPHA:480
HP:0010549	Weakness due to upper motor neuron dysfunction	3897	L1CAM	ORPHA:2182
HP:0010549	Weakness due to upper motor neuron dysfunction	3897	L1CAM	ORPHA:2466
HP:0010549	Weakness due to upper motor neuron dysfunction	9573	GDF3	ORPHA:2345
HP:0010549	Weakness due to upper motor neuron dysfunction	4222	MEOX1	ORPHA:2345
HP:0010549	Weakness due to upper motor neuron dysfunction	9990	SLC12A6	ORPHA:1496
HP:0010549	Weakness due to upper motor neuron dysfunction	51002	TPRKB	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	84942	WDR73	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	55644	OSGEP	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	57122	NUP107	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	10785	WDR4	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	55746	NUP133	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	112858	TP53RK	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	8270	LAGE3	ORPHA:2065
HP:0010549	Weakness due to upper motor neuron dysfunction	5167	ENPP1	ORPHA:758
HP:0010549	Weakness due to upper motor neuron dysfunction	368	ABCC6	ORPHA:758
HP:0010549	Weakness due to upper motor neuron dysfunction	10535	RNASEH2A	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	84153	RNASEH2C	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	25939	SAMHD1	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	79621	RNASEH2B	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	103	ADAR	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	11277	TREX1	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	100147744	RNU7-1	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	134353	LSM11	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	64135	IFIH1	ORPHA:51
HP:0010549	Weakness due to upper motor neuron dysfunction	128674	PROKR2	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	6657	SOX2	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	6658	SOX3	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	9915	ARNT2	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	8820	HESX1	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	5015	OTX2	ORPHA:3157
HP:0010549	Weakness due to upper motor neuron dysfunction	4668	NAGA	ORPHA:79279
HP:0010549	Weakness due to upper motor neuron dysfunction	5728	PTEN	ORPHA:137608
HP:0010549	Weakness due to upper motor neuron dysfunction	383	ARG1	ORPHA:90
HP:0010549	Weakness due to upper motor neuron dysfunction	25782	RAB3GAP2	ORPHA:401830
HP:0010549	Weakness due to upper motor neuron dysfunction	91942	NDUFAF2	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	6834	SURF1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4723	NDUFV1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	55572	FOXRED1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4729	NDUFV2	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	55967	NDUFA12	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4720	NDUFS2	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4724	NDUFS4	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4728	NDUFS8	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	137682	NDUFAF6	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	79133	NDUFAF5	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	5160	PDHA1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	100131801	PET100	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	1355	COX15	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	1892	ECHS1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	123263	MTFMT	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	51079	NDUFA13	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	374291	NDUFS7	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4705	NDUFA10	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4719	NDUFS1	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4695	NDUFA2	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4697	NDUFA4	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	4704	NDUFA9	ORPHA:255241
HP:0010549	Weakness due to upper motor neuron dysfunction	85465	SELENOI	ORPHA:506353
HP:0010549	Weakness due to upper motor neuron dysfunction	10717	AP4B1	ORPHA:280763
HP:0010549	Weakness due to upper motor neuron dysfunction	9179	AP4M1	ORPHA:280763
HP:0010549	Weakness due to upper motor neuron dysfunction	11154	AP4S1	ORPHA:280763
HP:0010549	Weakness due to upper motor neuron dysfunction	23431	AP4E1	ORPHA:280763
HP:0010549	Weakness due to upper motor neuron dysfunction	547	KIF1A	ORPHA:101010
HP:0010549	Weakness due to upper motor neuron dysfunction	23769	FLRT1	ORPHA:320406
HP:0010549	Weakness due to upper motor neuron dysfunction	64837	KLC2	ORPHA:320406
HP:0010549	Weakness due to upper motor neuron dysfunction	9897	WASHC5	ORPHA:100989
HP:0010549	Weakness due to upper motor neuron dysfunction	8242	KDM5C	OMIM:300534
HP:0010549	Weakness due to upper motor neuron dysfunction	340075	ARSI	ORPHA:401815
HP:0010549	Weakness due to upper motor neuron dysfunction	9197	SLC33A1	ORPHA:171863
HP:0010549	Weakness due to upper motor neuron dysfunction	4141	MARS1	ORPHA:401835
HP:0010549	Weakness due to upper motor neuron dysfunction	339855	KY	ORPHA:496689
HP:0010549	Weakness due to upper motor neuron dysfunction	57498	KIDINS220	ORPHA:521390
HP:0010549	Weakness due to upper motor neuron dysfunction	22948	CCT5	ORPHA:139578
HP:0010549	Weakness due to upper motor neuron dysfunction	51663	ZFR	ORPHA:401840
HP:0010549	Weakness due to upper motor neuron dysfunction	6253	RTN2	ORPHA:100993
HP:0010549	Weakness due to upper motor neuron dysfunction	51271	UBAP1	ORPHA:100993
HP:0010549	Weakness due to upper motor neuron dysfunction	126129	CPT1C	ORPHA:444099
HP:0010549	Weakness due to upper motor neuron dysfunction	200205	IBA57	ORPHA:468661
HP:0010549	Weakness due to upper motor neuron dysfunction	57531	HACE1	ORPHA:464282
HP:0010549	Weakness due to upper motor neuron dysfunction	80055	PGAP1	ORPHA:401820
HP:0010549	Weakness due to upper motor neuron dysfunction	3839	KPNA3	ORPHA:171612
HP:0010549	Weakness due to upper motor neuron dysfunction	9907	AP5Z1	ORPHA:306511
HP:0010549	Weakness due to upper motor neuron dysfunction	6687	SPG7	ORPHA:35689
HP:0010549	Weakness due to upper motor neuron dysfunction	2521	FUS	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	8878	SQSTM1	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	7415	VCP	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	23435	TARDBP	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	29110	TBK1	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	400916	CHCHD10	ORPHA:275872
HP:0010549	Weakness due to upper motor neuron dysfunction	10667	FARS2	ORPHA:466722
HP:0010549	Weakness due to upper motor neuron dysfunction	54809	SAMD9	OMIM:617053
HP:0010549	Weakness due to upper motor neuron dysfunction	162417	NAGS	ORPHA:927
HP:0010549	Weakness due to upper motor neuron dysfunction	5921	RASA1	ORPHA:90307
HP:0010549	Weakness due to upper motor neuron dysfunction	6683	SPAST	OMIM:182601
HP:0010549	Weakness due to upper motor neuron dysfunction	51062	ATL1	OMIM:182600
HP:0010549	Weakness due to upper motor neuron dysfunction	7276	TTR	OMIM:105210
HP:0010549	Weakness due to upper motor neuron dysfunction	23503	ZFYVE26	OMIM:270700
HP:0010549	Weakness due to upper motor neuron dysfunction	150468	CKAP2L	ORPHA:3255
HP:0010549	Weakness due to upper motor neuron dysfunction	10371	SEMA3A	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	81848	SPRY4	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	23767	FLRT3	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	79625	NDNF	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	2253	FGF8	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	389549	FEZF1	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	1630	DCC	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	3730	ANOS1	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	54756	IL17RD	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	6663	SOX10	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	285025	CCDC141	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	60675	PROK2	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	55636	CHD7	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	1848	DUSP6	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	6870	TACR3	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	55717	WDR11	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	9394	HS6ST1	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	8822	FGF17	ORPHA:478
HP:0010549	Weakness due to upper motor neuron dysfunction	10755	GIPC1	ORPHA:98897
HP:0010549	Weakness due to upper motor neuron dysfunction	100996717	NOTCH2NLC	ORPHA:98897
HP:0010549	Weakness due to upper motor neuron dysfunction	126792	B3GALT6	OMIM:271640
HP:0010549	Weakness due to upper motor neuron dysfunction	404672	GTF2H5	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	833	CARS1	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	2068	ERCC2	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	7737	RNF113A	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	136647	MPLKIP	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	6897	TARS1	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	2071	ERCC3	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	2961	GTF2E2	ORPHA:33364
HP:0010549	Weakness due to upper motor neuron dysfunction	79029	AFG2B	OMIM:619616
HP:0010549	Weakness due to upper motor neuron dysfunction	5621	PRNP	ORPHA:282166
HP:0010549	Weakness due to upper motor neuron dysfunction	3155	HMGCL	ORPHA:20
HP:0010549	Weakness due to upper motor neuron dysfunction	27235	COQ2	OMIM:607426
HP:0010542	Vestibular nystagmus	5621	PRNP	ORPHA:282166
HP:0010541	Cutis gyrata of scalp	2263	FGFR2	OMIM:123790
HP:0010541	Cutis gyrata of scalp	6578	SLCO2A1	OMIM:167100
HP:0010541	Cutis gyrata of scalp	6578	SLCO2A1	ORPHA:2796
HP:0010541	Cutis gyrata of scalp	54820	NDE1	OMIM:605013
HP:0010541	Cutis gyrata of scalp	3248	HPGD	ORPHA:2796
HP:0010547	Muscle flaccidity	6329	SCN4A	OMIM:613345
HP:0010547	Muscle flaccidity	6329	SCN4A	ORPHA:682
HP:0010547	Muscle flaccidity	6329	SCN4A	ORPHA:681
HP:0010547	Muscle flaccidity	6329	SCN4A	OMIM:170400
HP:0010547	Muscle flaccidity	6329	SCN4A	OMIM:170500
HP:0010547	Muscle flaccidity	779	CACNA1S	ORPHA:681
HP:0010547	Muscle flaccidity	779	CACNA1S	ORPHA:79102
HP:0010547	Muscle flaccidity	779	CACNA1S	OMIM:170400
HP:0010547	Muscle flaccidity	10008	KCNE3	ORPHA:681
HP:0010547	Muscle flaccidity	100134444	KCNJ18	ORPHA:79102
HP:0010547	Muscle flaccidity	2556	GABRA3	ORPHA:79102
HP:0010547	Muscle flaccidity	3762	KCNJ5	ORPHA:37553
HP:0010547	Muscle flaccidity	3759	KCNJ2	ORPHA:37553
HP:0010547	Muscle flaccidity	5339	PLEC	ORPHA:257
HP:0010547	Muscle flaccidity	89910	UBE3B	ORPHA:2707
HP:0010547	Muscle flaccidity	5189	PEX1	ORPHA:3220
HP:0010547	Muscle flaccidity	5190	PEX6	ORPHA:3220
HP:0010547	Muscle flaccidity	64374	SIL1	ORPHA:559
HP:0010547	Muscle flaccidity	51763	INPP5K	ORPHA:559
HP:0010547	Muscle flaccidity	3920	LAMP2	ORPHA:34587
HP:0010547	Muscle flaccidity	1278	COL1A2	ORPHA:1899
HP:0010547	Muscle flaccidity	1277	COL1A1	ORPHA:1899
HP:0010546	Muscle fibrillation	9131	AIFM1	ORPHA:238329
HP:0010546	Muscle fibrillation	9131	AIFM1	OMIM:300816
HP:0010546	Muscle fibrillation	10558	SPTLC1	OMIM:162400
HP:0010546	Muscle fibrillation	427	ASAH1	OMIM:159950
HP:0010546	Muscle fibrillation	6904	TBCD	OMIM:617193
HP:0010546	Muscle fibrillation	11340	EXOSC8	OMIM:616081
HP:0010546	Muscle fibrillation	11340	EXOSC8	ORPHA:2254
HP:0010546	Muscle fibrillation	23250	ATP11A	OMIM:619851
HP:0010546	Muscle fibrillation	5393	EXOSC9	OMIM:618065
HP:0010546	Muscle fibrillation	5393	EXOSC9	ORPHA:2254
HP:0010546	Muscle fibrillation	4724	NDUFS4	OMIM:252010
HP:0010546	Muscle fibrillation	7317	UBA1	ORPHA:1145
HP:0010546	Muscle fibrillation	7317	UBA1	OMIM:301830
HP:0010546	Muscle fibrillation	10133	OPTN	OMIM:613435
HP:0010546	Muscle fibrillation	64856	VWA1	OMIM:619216
HP:0010546	Muscle fibrillation	203190	LGI3	OMIM:620007
HP:0010546	Muscle fibrillation	55005	RMND1	OMIM:614922
HP:0010546	Muscle fibrillation	23287	AGTPBP1	ORPHA:2254
HP:0010546	Muscle fibrillation	23287	AGTPBP1	OMIM:618276
HP:0010546	Muscle fibrillation	51010	EXOSC3	ORPHA:2254
HP:0010546	Muscle fibrillation	51010	EXOSC3	OMIM:614678
HP:0010546	Muscle fibrillation	7443	VRK1	ORPHA:2254
HP:0010546	Muscle fibrillation	7443	VRK1	OMIM:607596
HP:0010546	Muscle fibrillation	91137	SLC25A46	ORPHA:2254
HP:0010546	Muscle fibrillation	8087	FXR1	OMIM:618822
HP:0010546	Muscle fibrillation	8087	FXR1	OMIM:618823
HP:0010546	Muscle fibrillation	114034	TOE1	OMIM:614969
HP:0010546	Muscle fibrillation	79581	SLC52A2	OMIM:614707
HP:0010546	Muscle fibrillation	773	CACNA1A	ORPHA:569
HP:0010546	Muscle fibrillation	112476	PRRT2	ORPHA:569
HP:0010546	Muscle fibrillation	6323	SCN1A	ORPHA:569
HP:0010546	Muscle fibrillation	477	ATP1A2	ORPHA:569
HP:0010546	Muscle fibrillation	79628	SH3TC2	OMIM:601596
HP:0010546	Muscle fibrillation	79628	SH3TC2	ORPHA:99949
HP:0010546	Muscle fibrillation	54936	ADPRS	OMIM:618170
HP:0010546	Muscle fibrillation	7259	TSPYL1	OMIM:608800
HP:0010546	Muscle fibrillation	127833	SYT2	OMIM:619461
HP:0010546	Muscle fibrillation	10528	NOP56	OMIM:614153
HP:0010546	Muscle fibrillation	10528	NOP56	ORPHA:276198
HP:0010546	Muscle fibrillation	51305	KCNK9	ORPHA:166108
HP:0010546	Muscle fibrillation	84466	MEGF10	OMIM:614399
HP:0010546	Muscle fibrillation	58497	PRUNE1	ORPHA:544469
HP:0010546	Muscle fibrillation	400916	CHCHD10	ORPHA:276435
HP:0010546	Muscle fibrillation	89874	SLC25A21	OMIM:618811
HP:0010546	Muscle fibrillation	4359	MPZ	OMIM:145900
HP:0010546	Muscle fibrillation	5376	PMP22	OMIM:145900
HP:0010546	Muscle fibrillation	1959	EGR2	OMIM:145900
HP:0010546	Muscle fibrillation	57716	PRX	OMIM:145900
HP:0010546	Muscle fibrillation	113278	SLC52A3	OMIM:211530
HP:0010546	Muscle fibrillation	23258	DENND5A	OMIM:617281
HP:0010546	Muscle fibrillation	4287	ATXN3	ORPHA:276238
HP:0010546	Muscle fibrillation	4287	ATXN3	OMIM:109150
HP:0010546	Muscle fibrillation	4287	ATXN3	ORPHA:276244
HP:0010546	Muscle fibrillation	4287	ATXN3	ORPHA:276241
HP:0010546	Muscle fibrillation	54902	TTC19	OMIM:615157
HP:0010546	Muscle fibrillation	10342	TFG	ORPHA:90117
HP:0010546	Muscle fibrillation	7415	VCP	ORPHA:329475
HP:0010546	Muscle fibrillation	3094	HINT1	ORPHA:324442
HP:0010546	Muscle fibrillation	25814	ATXN10	OMIM:603516
HP:0010546	Muscle fibrillation	3315	HSPB1	ORPHA:99940
HP:0010546	Muscle fibrillation	6606	SMN1	OMIM:253400
HP:0010546	Muscle fibrillation	6607	SMN2	OMIM:253400
HP:0010546	Muscle fibrillation	23064	SETX	OMIM:602433
HP:0010546	Muscle fibrillation	3475	IFRD1	ORPHA:98771
HP:0010546	Muscle fibrillation	899	CCNF	OMIM:619141
HP:0010546	Muscle fibrillation	2617	GARS1	OMIM:619042
HP:0010546	Muscle fibrillation	1785	DNM2	OMIM:160150
HP:0010546	Muscle fibrillation	1785	DNM2	ORPHA:169189
HP:0010546	Muscle fibrillation	64419	MTMR14	OMIM:160150
HP:0010546	Muscle fibrillation	64419	MTMR14	ORPHA:169189
HP:0010546	Muscle fibrillation	5428	POLG	OMIM:607459
HP:0010546	Muscle fibrillation	56652	TWNK	OMIM:607459
HP:0010546	Muscle fibrillation	6305	SBF1	OMIM:615284
HP:0010546	Muscle fibrillation	22906	TRAK1	OMIM:618201
HP:0010546	Muscle fibrillation	2992	GYG1	OMIM:616199
HP:0010546	Muscle fibrillation	8291	DYSF	OMIM:254130
HP:0010546	Muscle fibrillation	1073	CFL2	OMIM:610687
HP:0010546	Muscle fibrillation	274	BIN1	ORPHA:169189
HP:0010546	Muscle fibrillation	4618	MYF6	ORPHA:169189
HP:0010546	Muscle fibrillation	6261	RYR1	ORPHA:169189
HP:0010546	Muscle fibrillation	57465	TBC1D24	OMIM:605021
HP:0010545	Downbeat nystagmus	5981	RFC1	OMIM:614575
HP:0010545	Downbeat nystagmus	55129	ANO10	ORPHA:284289
HP:0010545	Downbeat nystagmus	55129	ANO10	OMIM:613728
HP:0010545	Downbeat nystagmus	2196	FAT2	OMIM:617769
HP:0010545	Downbeat nystagmus	27235	COQ2	ORPHA:227510
HP:0010545	Downbeat nystagmus	8398	PLA2G6	ORPHA:35069
HP:0010545	Downbeat nystagmus	773	CACNA1A	OMIM:108500
HP:0010545	Downbeat nystagmus	2259	FGF14	OMIM:620174
HP:0030980	Reduced brain glutamine level by MRS	55768	NGLY1	OMIM:615273
HP:0030981	Abnormal CSF/serum albumin ratio	55768	NGLY1	OMIM:615273
HP:0030983	Ovarian thecoma	23405	DICER1	OMIM:180295
HP:0030984	Abnormal serum bile acid concentration	9414	TJP2	OMIM:607748
HP:0030984	Abnormal serum bile acid concentration	10165	SLC25A13	OMIM:605814
HP:0030984	Abnormal serum bile acid concentration	6888	TALDO1	ORPHA:101028
HP:0030984	Abnormal serum bile acid concentration	6554	SLC10A1	OMIM:619256
HP:0030984	Abnormal serum bile acid concentration	55610	VPS50	OMIM:619685
HP:0030984	Abnormal serum bile acid concentration	55898	UNC45A	OMIM:619377
HP:0030984	Abnormal serum bile acid concentration	6514	SLC2A2	OMIM:227810
HP:0030984	Abnormal serum bile acid concentration	57003	CCDC47	OMIM:618268
HP:0030984	Abnormal serum bile acid concentration	8482	SEMA7A	OMIM:619874
HP:0030984	Abnormal serum bile acid concentration	162	AP1B1	OMIM:242150
HP:0030984	Abnormal serum bile acid concentration	5825	ABCD3	OMIM:616278
HP:0030984	Abnormal serum bile acid concentration	8647	ABCB11	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	9971	NR1H4	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	113220	KIF12	OMIM:619662
HP:0030984	Abnormal serum bile acid concentration	4645	MYO5B	OMIM:619868
HP:0030984	Abnormal serum bile acid concentration	26276	VPS33B	OMIM:620010
HP:0030984	Abnormal serum bile acid concentration	199221	DZIP1L	ORPHA:731
HP:0030984	Abnormal serum bile acid concentration	5314	PKHD1	ORPHA:731
HP:0030984	Abnormal serum bile acid concentration	134218	DNAJC21	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	79631	EFL1	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	51119	SBDS	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	6729	SRP54	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	6718	AKR1D1	ORPHA:79303
HP:0030984	Abnormal serum bile acid concentration	23600	AMACR	OMIM:214950
HP:0030984	Abnormal serum bile acid concentration	123264	SLC51B	OMIM:619481
HP:0030984	Abnormal serum bile acid concentration	5244	ABCB4	OMIM:614972
HP:0030984	Abnormal serum bile acid concentration	5205	ATP8B1	OMIM:147480
HP:0030985	Decreased serum bile acid concentration	23600	AMACR	OMIM:214950
HP:0030985	Decreased serum bile acid concentration	123264	SLC51B	OMIM:619481
HP:0000337	Broad forehead	3476	IGBP1	OMIM:300472
HP:0000337	Broad forehead	7528	YY1	ORPHA:506358
HP:0000337	Broad forehead	7528	YY1	OMIM:617557
HP:0000337	Broad forehead	8036	SHOC2	OMIM:607721
HP:0000337	Broad forehead	6535	SLC6A8	OMIM:300352
HP:0000337	Broad forehead	51256	TBC1D7	OMIM:248000
HP:0000337	Broad forehead	5728	PTEN	OMIM:605309
HP:0000337	Broad forehead	23556	PIGN	ORPHA:2059
HP:0000337	Broad forehead	2263	FGFR2	OMIM:149730
HP:0000337	Broad forehead	2263	FGFR2	ORPHA:87
HP:0000337	Broad forehead	2263	FGFR2	OMIM:101200
HP:0000337	Broad forehead	9820	CUL7	ORPHA:2616
HP:0000337	Broad forehead	23363	OBSL1	ORPHA:2616
HP:0000337	Broad forehead	83987	CCDC8	ORPHA:2616
HP:0000337	Broad forehead	84282	RNF135	ORPHA:137634
HP:0000337	Broad forehead	7021	TFAP2B	OMIM:169100
HP:0000337	Broad forehead	55777	MBD5	ORPHA:228402
HP:0000337	Broad forehead	55777	MBD5	OMIM:156200
HP:0000337	Broad forehead	4774	NFIA	OMIM:613735
HP:0000337	Broad forehead	4125	MAN2B1	ORPHA:309282
HP:0000337	Broad forehead	4125	MAN2B1	OMIM:248500
HP:0000337	Broad forehead	23118	TAB2	ORPHA:228410
HP:0000337	Broad forehead	374654	KIF7	OMIM:200990
HP:0000337	Broad forehead	9578	CDC42BPB	OMIM:619841
HP:0000337	Broad forehead	72	ACTG2	ORPHA:2604
HP:0000337	Broad forehead	2314	FLII	ORPHA:819
HP:0000337	Broad forehead	23096	IQSEC2	ORPHA:819
HP:0000337	Broad forehead	10743	RAI1	ORPHA:819
HP:0000337	Broad forehead	10743	RAI1	ORPHA:1713
HP:0000337	Broad forehead	10522	DEAF1	ORPHA:819
HP:0000337	Broad forehead	150468	CKAP2L	ORPHA:3255
HP:0000337	Broad forehead	150468	CKAP2L	OMIM:272440
HP:0000337	Broad forehead	29957	SLC25A24	ORPHA:2963
HP:0000337	Broad forehead	29957	SLC25A24	OMIM:612289
HP:0000337	Broad forehead	64324	NSD1	OMIM:117550
HP:0000337	Broad forehead	64324	NSD1	ORPHA:3447
HP:0000337	Broad forehead	9469	CHST3	OMIM:143095
HP:0000337	Broad forehead	9469	CHST3	ORPHA:263463
HP:0000337	Broad forehead	9469	CHST3	OMIM:245600
HP:0000337	Broad forehead	5426	POLE	OMIM:615139
HP:0000337	Broad forehead	83550	GPR101	ORPHA:963
HP:0000337	Broad forehead	9049	AIP	ORPHA:963
HP:0000337	Broad forehead	8726	EED	OMIM:617561
HP:0000337	Broad forehead	8726	EED	ORPHA:3447
HP:0000337	Broad forehead	93627	TBCK	ORPHA:488632
HP:0000337	Broad forehead	23314	SATB2	OMIM:612313
HP:0000337	Broad forehead	79867	TCTN2	OMIM:613885
HP:0000337	Broad forehead	649	BMP1	OMIM:614856
HP:0000337	Broad forehead	4036	LRP2	ORPHA:2143
HP:0000337	Broad forehead	25942	SIN3A	OMIM:613406
HP:0000337	Broad forehead	2200	FBN1	OMIM:616914
HP:0000337	Broad forehead	2316	FLNA	ORPHA:90652
HP:0000337	Broad forehead	11285	B4GALT7	OMIM:130070
HP:0000337	Broad forehead	6792	CDKL5	OMIM:300672
HP:0000337	Broad forehead	6792	CDKL5	ORPHA:505652
HP:0000337	Broad forehead	253738	EBF3	OMIM:617330
HP:0000337	Broad forehead	8493	PPM1D	OMIM:617450
HP:0000337	Broad forehead	7862	BRPF1	OMIM:617333
HP:0000337	Broad forehead	23126	POGZ	OMIM:616364
HP:0000337	Broad forehead	3845	KRAS	OMIM:615278
HP:0000337	Broad forehead	9508	ADAMTS3	ORPHA:2136
HP:0000337	Broad forehead	147372	CCBE1	ORPHA:2136
HP:0000337	Broad forehead	147372	CCBE1	OMIM:235510
HP:0000337	Broad forehead	79633	FAT4	ORPHA:2136
HP:0000337	Broad forehead	6804	STX1A	ORPHA:904
HP:0000337	Broad forehead	7461	CLIP2	ORPHA:904
HP:0000337	Broad forehead	84277	DNAJC30	ORPHA:904
HP:0000337	Broad forehead	8468	FKBP6	ORPHA:904
HP:0000337	Broad forehead	5982	RFC2	ORPHA:904
HP:0000337	Broad forehead	2969	GTF2I	ORPHA:904
HP:0000337	Broad forehead	3984	LIMK1	ORPHA:904
HP:0000337	Broad forehead	9569	GTF2IRD1	ORPHA:904
HP:0000337	Broad forehead	155382	VPS37D	ORPHA:904
HP:0000337	Broad forehead	155368	METTL27	ORPHA:904
HP:0000337	Broad forehead	114049	BUD23	ORPHA:904
HP:0000337	Broad forehead	7458	EIF4H	ORPHA:904
HP:0000337	Broad forehead	84163	GTF2IRD2	ORPHA:904
HP:0000337	Broad forehead	9275	BCL7B	ORPHA:904
HP:0000337	Broad forehead	26608	TBL2	ORPHA:904
HP:0000337	Broad forehead	653361	NCF1	ORPHA:904
HP:0000337	Broad forehead	135886	TMEM270	ORPHA:904
HP:0000337	Broad forehead	51085	MLXIPL	ORPHA:904
HP:0000337	Broad forehead	9031	BAZ1B	ORPHA:904
HP:0000337	Broad forehead	2006	ELN	ORPHA:904
HP:0000337	Broad forehead	2006	ELN	ORPHA:90348
HP:0000337	Broad forehead	285175	UNC80	OMIM:616801
HP:0000337	Broad forehead	3211	HOXB1	OMIM:614744
HP:0000337	Broad forehead	6134	RPL10	ORPHA:459070
HP:0000337	Broad forehead	51611	DPH5	OMIM:620070
HP:0000337	Broad forehead	79228	THOC6	ORPHA:363444
HP:0000337	Broad forehead	57459	GATAD2B	ORPHA:363686
HP:0000337	Broad forehead	57459	GATAD2B	OMIM:615074
HP:0000337	Broad forehead	78989	COLEC11	OMIM:265050
HP:0000337	Broad forehead	26137	ZBTB20	OMIM:259050
HP:0000337	Broad forehead	23261	CAMTA1	OMIM:614756
HP:0000337	Broad forehead	200424	TET3	OMIM:618798
HP:0000337	Broad forehead	182	JAG1	OMIM:118450
HP:0000337	Broad forehead	182	JAG1	OMIM:187500
HP:0000337	Broad forehead	182	JAG1	ORPHA:3303
HP:0000337	Broad forehead	6901	TAFAZZIN	OMIM:302060
HP:0000337	Broad forehead	9338	TCEAL1	OMIM:301094
HP:0000337	Broad forehead	11128	POLR3A	ORPHA:3455
HP:0000337	Broad forehead	4208	MEF2C	ORPHA:228384
HP:0000337	Broad forehead	4208	MEF2C	OMIM:613443
HP:0000337	Broad forehead	2626	GATA4	OMIM:187500
HP:0000337	Broad forehead	2626	GATA4	ORPHA:3303
HP:0000337	Broad forehead	23414	ZFPM2	OMIM:187500
HP:0000337	Broad forehead	23414	ZFPM2	ORPHA:3303
HP:0000337	Broad forehead	1482	NKX2-5	OMIM:187500
HP:0000337	Broad forehead	1482	NKX2-5	ORPHA:3303
HP:0000337	Broad forehead	6899	TBX1	OMIM:187500
HP:0000337	Broad forehead	6899	TBX1	ORPHA:3303
HP:0000337	Broad forehead	2627	GATA6	OMIM:187500
HP:0000337	Broad forehead	2627	GATA6	ORPHA:3303
HP:0000337	Broad forehead	4677	NARS1	OMIM:619092
HP:0000337	Broad forehead	8573	CASK	ORPHA:163937
HP:0000337	Broad forehead	9652	SKIC3	OMIM:222470
HP:0000337	Broad forehead	9652	SKIC3	ORPHA:84064
HP:0000337	Broad forehead	84168	ANTXR1	OMIM:230740
HP:0000337	Broad forehead	84168	ANTXR1	ORPHA:2067
HP:0000337	Broad forehead	8504	PEX3	OMIM:614882
HP:0000337	Broad forehead	10516	FBLN5	ORPHA:90348
HP:0000337	Broad forehead	5832	ALDH18A1	ORPHA:90348
HP:0000337	Broad forehead	5832	ALDH18A1	OMIM:616603
HP:0000337	Broad forehead	4087	SMAD2	OMIM:619657
HP:0000337	Broad forehead	51322	WAC	OMIM:616708
HP:0000337	Broad forehead	51322	WAC	ORPHA:466950
HP:0000337	Broad forehead	9939	RBM8A	ORPHA:3320
HP:0000337	Broad forehead	23512	SUZ12	ORPHA:3447
HP:0000337	Broad forehead	2146	EZH2	ORPHA:3447
HP:0000337	Broad forehead	7546	ZIC2	OMIM:609637
HP:0000337	Broad forehead	25970	SH2B1	ORPHA:261197
HP:0000337	Broad forehead	54903	MKS1	OMIM:617121
HP:0000337	Broad forehead	54903	MKS1	OMIM:249000
HP:0000337	Broad forehead	1523	CUX1	OMIM:618330
HP:0000337	Broad forehead	867	CBL	OMIM:613563
HP:0000337	Broad forehead	2245	FGD1	ORPHA:915
HP:0000337	Broad forehead	2719	GPC3	OMIM:312870
HP:0000337	Broad forehead	2239	GPC4	OMIM:312870
HP:0000337	Broad forehead	2239	GPC4	ORPHA:2662
HP:0000337	Broad forehead	3720	JARID2	OMIM:620098
HP:0000337	Broad forehead	7291	TWIST1	ORPHA:35099
HP:0000337	Broad forehead	2261	FGFR3	ORPHA:35099
HP:0000337	Broad forehead	6938	TCF12	ORPHA:35099
HP:0000337	Broad forehead	7545	ZIC1	ORPHA:35099
HP:0000337	Broad forehead	9949	AMMECR1	OMIM:300990
HP:0000337	Broad forehead	123606	NIPA1	ORPHA:261183
HP:0000337	Broad forehead	7283	TUBG1	ORPHA:261183
HP:0000337	Broad forehead	81614	NIPA2	ORPHA:261183
HP:0000337	Broad forehead	2702	GJA5	ORPHA:3303
HP:0000337	Broad forehead	137814	NKX2-6	ORPHA:3303
HP:0000337	Broad forehead	3791	KDR	ORPHA:3303
HP:0000337	Broad forehead	2657	GDF1	ORPHA:3303
HP:0000337	Broad forehead	140628	GATA5	ORPHA:3303
HP:0000337	Broad forehead	2324	FLT4	ORPHA:3303
HP:0000337	Broad forehead	10370	CITED2	ORPHA:3303
HP:0000337	Broad forehead	128869	PIGU	OMIM:618590
HP:0000337	Broad forehead	51412	ACTL6B	OMIM:618470
HP:0000337	Broad forehead	5515	PPP2CA	OMIM:618354
HP:0000337	Broad forehead	388015	RTL1	ORPHA:254528
HP:0000337	Broad forehead	8788	DLK1	ORPHA:254528
HP:0000337	Broad forehead	55384	MEG3	ORPHA:254528
HP:0000337	Broad forehead	6492	SIM1	ORPHA:171829
HP:0000337	Broad forehead	4893	NRAS	OMIM:613224
HP:0000337	Broad forehead	4893	NRAS	OMIM:137550
HP:0000337	Broad forehead	4953	ODC1	ORPHA:544488
HP:0000337	Broad forehead	3417	IDH1	ORPHA:99646
HP:0000337	Broad forehead	64135	IFIH1	OMIM:182250
HP:0000337	Broad forehead	4784	NFIX	OMIM:602535
HP:0000337	Broad forehead	3039	HBA1	ORPHA:98791
HP:0000337	Broad forehead	3040	HBA2	ORPHA:98791
HP:0000337	Broad forehead	51132	RLIM	OMIM:300978
HP:0000337	Broad forehead	2530	FUT8	OMIM:618005
HP:0000337	Broad forehead	3756	KCNH1	OMIM:135500
HP:0000337	Broad forehead	8260	NAA10	OMIM:300855
HP:0000337	Broad forehead	9401	RECQL4	ORPHA:1225
HP:0000337	Broad forehead	55603	TENT5A	OMIM:617952
HP:0000337	Broad forehead	134701	RIPPLY2	ORPHA:2311
HP:0000337	Broad forehead	10683	DLL3	ORPHA:2311
HP:0000337	Broad forehead	3955	LFNG	ORPHA:2311
HP:0000337	Broad forehead	84667	HES7	ORPHA:2311
HP:0000337	Broad forehead	145873	MESP2	ORPHA:2311
HP:0000337	Broad forehead	5831	PYCR1	OMIM:612940
HP:0000337	Broad forehead	201163	FLCN	OMIM:610883
HP:0000337	Broad forehead	3759	KCNJ2	OMIM:170390
HP:0000337	Broad forehead	3759	KCNJ2	ORPHA:37553
HP:0000337	Broad forehead	23389	MED13L	ORPHA:369891
HP:0000337	Broad forehead	1009	CDH11	OMIM:211380
HP:0000337	Broad forehead	1000	CDH2	OMIM:618929
HP:0000337	Broad forehead	7703	PCGF2	OMIM:618371
HP:0000337	Broad forehead	25	ABL1	OMIM:617602
HP:0000337	Broad forehead	860	RUNX2	ORPHA:1452
HP:0000337	Broad forehead	51729	WBP11	OMIM:619227
HP:0000337	Broad forehead	5723	PSPH	ORPHA:79350
HP:0000337	Broad forehead	57187	THOC2	ORPHA:457240
HP:0000337	Broad forehead	4763	NF1	ORPHA:97685
HP:0000337	Broad forehead	26040	SETBP1	ORPHA:798
HP:0000337	Broad forehead	9791	PTDSS1	OMIM:151050
HP:0000337	Broad forehead	9791	PTDSS1	ORPHA:2658
HP:0000337	Broad forehead	4041	LRP5	ORPHA:178377
HP:0000337	Broad forehead	6711	SPTBN1	OMIM:619475
HP:0000337	Broad forehead	92002	CCNQ	OMIM:300707
HP:0000337	Broad forehead	79005	SCNM1	OMIM:620107
HP:0000337	Broad forehead	285590	SH3PXD2B	ORPHA:137834
HP:0000337	Broad forehead	80036	TRPM3	OMIM:620224
HP:0000337	Broad forehead	63932	STEEP1	OMIM:301013
HP:0000337	Broad forehead	113189	CHST14	OMIM:601776
HP:0000337	Broad forehead	3265	HRAS	OMIM:137550
HP:0000337	Broad forehead	5290	PIK3CA	OMIM:602501
HP:0000337	Broad forehead	8567	MADD	OMIM:619005
HP:0000337	Broad forehead	5058	PAK1	OMIM:618158
HP:0000337	Broad forehead	28952	CCDC22	OMIM:300963
HP:0000337	Broad forehead	91875	TTC5	OMIM:619244
HP:0000337	Broad forehead	9897	WASHC5	OMIM:220210
HP:0000337	Broad forehead	650	BMP2	OMIM:617877
HP:0000337	Broad forehead	284058	KANSL1	OMIM:610443
HP:0000337	Broad forehead	5557	PRIM1	OMIM:620005
HP:0000337	Broad forehead	1788	DNMT3A	OMIM:618724
HP:0000337	Broad forehead	4853	NOTCH2	OMIM:610205
HP:0000337	Broad forehead	26229	B3GAT3	OMIM:245600
HP:0000337	Broad forehead	284361	EMC10	OMIM:619264
HP:0000337	Broad forehead	5567	PRKACB	OMIM:619143
HP:0000337	Broad forehead	6499	SKIC2	ORPHA:84064
HP:0000337	Broad forehead	3762	KCNJ5	ORPHA:37553
HP:0000337	Broad forehead	5604	MAP2K1	OMIM:163950
HP:0000337	Broad forehead	5781	PTPN11	OMIM:163950
HP:0000337	Broad forehead	673	BRAF	OMIM:163950
HP:0000339	Pugilistic facies	1280	COL2A1	OMIM:271700
HP:0000339	Pugilistic facies	2273	FHL1	OMIM:300280
HP:0000336	Prominent supraorbital ridges	50964	SOST	OMIM:269500
HP:0000336	Prominent supraorbital ridges	27316	RBMX	OMIM:300238
HP:0000336	Prominent supraorbital ridges	23512	SUZ12	OMIM:618786
HP:0000336	Prominent supraorbital ridges	2892	GRIA3	ORPHA:364028
HP:0000336	Prominent supraorbital ridges	2892	GRIA3	OMIM:300699
HP:0000336	Prominent supraorbital ridges	57680	CHD8	OMIM:615032
HP:0000336	Prominent supraorbital ridges	5063	PAK3	OMIM:300558
HP:0000336	Prominent supraorbital ridges	5702	PSMC3	OMIM:619354
HP:0000336	Prominent supraorbital ridges	6885	MAP3K7	OMIM:617137
HP:0000336	Prominent supraorbital ridges	6885	MAP3K7	ORPHA:1826
HP:0000336	Prominent supraorbital ridges	2316	FLNA	OMIM:314400
HP:0000336	Prominent supraorbital ridges	2316	FLNA	ORPHA:2484
HP:0000336	Prominent supraorbital ridges	2316	FLNA	OMIM:305620
HP:0000336	Prominent supraorbital ridges	2316	FLNA	ORPHA:1826
HP:0000336	Prominent supraorbital ridges	2316	FLNA	OMIM:309350
HP:0000336	Prominent supraorbital ridges	2316	FLNA	OMIM:311300
HP:0000336	Prominent supraorbital ridges	2316	FLNA	ORPHA:90650
HP:0000336	Prominent supraorbital ridges	2316	FLNA	ORPHA:90652
HP:0000336	Prominent supraorbital ridges	85358	SHANK3	OMIM:606232
HP:0000336	Prominent supraorbital ridges	11128	POLR3A	OMIM:264090
HP:0000336	Prominent supraorbital ridges	10060	ABCC9	OMIM:619719
HP:0000336	Prominent supraorbital ridges	10060	ABCC9	ORPHA:1517
HP:0000336	Prominent supraorbital ridges	1302	COL11A2	OMIM:215150
HP:0000336	Prominent supraorbital ridges	5605	MAP2K2	OMIM:615280
HP:0000336	Prominent supraorbital ridges	4983	OPHN1	OMIM:300486
HP:0000336	Prominent supraorbital ridges	6872	TAF1	OMIM:300966
HP:0000336	Prominent supraorbital ridges	6872	TAF1	ORPHA:480907
HP:0000336	Prominent supraorbital ridges	170302	ARX	OMIM:300004
HP:0000336	Prominent supraorbital ridges	81887	LAS1L	ORPHA:3459
HP:0000336	Prominent supraorbital ridges	55869	HDAC8	ORPHA:3459
HP:0000336	Prominent supraorbital ridges	57688	ZSWIM6	OMIM:617865
HP:0000336	Prominent supraorbital ridges	3764	KCNJ8	ORPHA:1517
HP:0000336	Prominent supraorbital ridges	2273	FHL1	OMIM:300280
HP:0000336	Prominent supraorbital ridges	3423	IDS	ORPHA:217093
HP:0000336	Prominent supraorbital ridges	3423	IDS	ORPHA:217085
HP:0000336	Prominent supraorbital ridges	3930	LBR	OMIM:215140
HP:0000336	Prominent supraorbital ridges	6197	RPS6KA3	OMIM:303600
HP:0000336	Prominent supraorbital ridges	5295	PIK3R1	ORPHA:3163
HP:0000336	Prominent supraorbital ridges	1896	EDA	OMIM:305100
HP:0000336	Prominent supraorbital ridges	84295	PHF6	OMIM:301900
HP:0000336	Prominent supraorbital ridges	84295	PHF6	ORPHA:127
HP:0000336	Prominent supraorbital ridges	10484	SEC23A	ORPHA:50814
HP:0000336	Prominent supraorbital ridges	10484	SEC23A	OMIM:607812
HP:0000336	Prominent supraorbital ridges	92255	LMBRD2	OMIM:619694
HP:0000336	Prominent supraorbital ridges	57479	PRR12	OMIM:619539
HP:0000336	Prominent supraorbital ridges	2260	FGFR1	OMIM:166250
HP:0000336	Prominent supraorbital ridges	2260	FGFR1	ORPHA:3366
HP:0000336	Prominent supraorbital ridges	114034	TOE1	OMIM:614969
HP:0000336	Prominent supraorbital ridges	5308	PITX2	OMIM:180500
HP:0000336	Prominent supraorbital ridges	79791	FBXO31	OMIM:615979
HP:0000336	Prominent supraorbital ridges	2072	ERCC4	OMIM:610965
HP:0000336	Prominent supraorbital ridges	5468	PPARG	ORPHA:528
HP:0000336	Prominent supraorbital ridges	10555	AGPAT2	ORPHA:528
HP:0000336	Prominent supraorbital ridges	284119	CAVIN1	ORPHA:528
HP:0000336	Prominent supraorbital ridges	26580	BSCL2	ORPHA:528
HP:0000336	Prominent supraorbital ridges	2353	FOS	ORPHA:528
HP:0000336	Prominent supraorbital ridges	857	CAV1	ORPHA:528
HP:0000336	Prominent supraorbital ridges	158326	FREM1	ORPHA:3366
HP:0000336	Prominent supraorbital ridges	23133	PHF8	OMIM:300263
HP:0000336	Prominent supraorbital ridges	7319	UBE2A	OMIM:300860
HP:0000336	Prominent supraorbital ridges	5159	PDGFRB	OMIM:616592
HP:0000336	Prominent supraorbital ridges	164	AP1G1	OMIM:619548
HP:0000336	Prominent supraorbital ridges	3720	JARID2	OMIM:620098
HP:0000336	Prominent supraorbital ridges	121340	SP7	OMIM:613849
HP:0000336	Prominent supraorbital ridges	5745	PTH1R	OMIM:156400
HP:0000331	Short chin	11253	MAN1B1	ORPHA:397941
HP:0000331	Short chin	253738	EBF3	OMIM:617330
HP:0000331	Short chin	94005	PIGS	OMIM:618143
HP:0000331	Short chin	8558	CDK10	OMIM:617694
HP:0000331	Short chin	7204	TRIO	OMIM:618825
HP:0000331	Short chin	7204	TRIO	OMIM:617061
HP:0000331	Short chin	1161	ERCC8	ORPHA:90324
HP:0000331	Short chin	1161	ERCC8	ORPHA:90321
HP:0000331	Short chin	1161	ERCC8	ORPHA:90322
HP:0000331	Short chin	2074	ERCC6	ORPHA:90324
HP:0000331	Short chin	2074	ERCC6	ORPHA:90321
HP:0000331	Short chin	2074	ERCC6	ORPHA:90322
HP:0000331	Short chin	100151683	RNU4ATAC	OMIM:210710
HP:0000331	Short chin	9841	ZBTB24	OMIM:614069
HP:0000331	Short chin	23394	ADNP	OMIM:615873
HP:0000331	Short chin	6885	MAP3K7	OMIM:617137
HP:0000331	Short chin	6418	SET	OMIM:618106
HP:0000331	Short chin	4897	NRCAM	OMIM:619833
HP:0000331	Short chin	8854	ALDH1A2	OMIM:620025
HP:0000331	Short chin	4774	NFIA	OMIM:613735
HP:0000331	Short chin	85358	SHANK3	OMIM:606232
HP:0000331	Short chin	256297	PTF1A	OMIM:609069
HP:0000331	Short chin	256297	PTF1A	ORPHA:65288
HP:0000331	Short chin	2072	ERCC4	ORPHA:90321
HP:0000331	Short chin	55719	SLF2	OMIM:620184
HP:0000331	Short chin	2067	ERCC1	ORPHA:90322
HP:0000331	Short chin	2887	GRB10	ORPHA:96182
HP:0000331	Short chin	4000	LMNA	ORPHA:740
HP:0000331	Short chin	4000	LMNA	OMIM:212112
HP:0000331	Short chin	10269	ZMPSTE24	ORPHA:740
HP:0000331	Short chin	3481	IGF2	ORPHA:231140
HP:0000331	Short chin	283120	H19	ORPHA:231140
HP:0000331	Short chin	8905	AP1S2	ORPHA:85329
HP:0000331	Short chin	1836	SLC26A2	OMIM:222600
HP:0000331	Short chin	1349	COX7B	OMIM:300887
HP:0000331	Short chin	60676	PAPPA2	OMIM:619489
HP:0000331	Short chin	80816	ASXL3	OMIM:615485
HP:0000331	Short chin	83737	ITCH	OMIM:613385
HP:0000331	Short chin	83737	ITCH	ORPHA:228426
HP:0000331	Short chin	5591	PRKDC	OMIM:615966
HP:0000331	Short chin	25973	PARS2	OMIM:618437
HP:0000331	Short chin	55777	MBD5	OMIM:156200
HP:0000331	Short chin	5295	PIK3R1	OMIM:269880
HP:0000331	Short chin	2316	FLNA	OMIM:305620
HP:0000331	Short chin	1896	EDA	OMIM:305100
HP:0000331	Short chin	79868	ALG13	ORPHA:324422
HP:0000331	Short chin	54888	NSUN2	OMIM:611091
HP:0000331	Short chin	57492	ARID1B	OMIM:135900
HP:0000331	Short chin	7518	XRCC4	OMIM:616541
HP:0000331	Short chin	1298	COL9A2	OMIM:614284
HP:0000331	Short chin	7468	NSD2	OMIM:619695
HP:0000331	Short chin	388753	COA6	OMIM:616501
HP:0000331	Short chin	816	CAMK2B	OMIM:617799
HP:0000331	Short chin	4724	NDUFS4	OMIM:252010
HP:0000331	Short chin	9968	MED12	ORPHA:93932
HP:0000331	Short chin	340665	CYP26C1	ORPHA:398189
HP:0000331	Short chin	79791	FBXO31	OMIM:615979
HP:0000331	Short chin	222663	SCUBE3	OMIM:619184
HP:0000331	Short chin	129285	PPP1R21	OMIM:619383
HP:0000331	Short chin	9896	FIG4	ORPHA:3472
HP:0000331	Short chin	55697	VAC14	ORPHA:3472
HP:0000331	Short chin	11342	RNF13	OMIM:618379
HP:0000331	Short chin	11342	RNF13	ORPHA:544503
HP:0000331	Short chin	4921	DDR2	OMIM:618175
HP:0000331	Short chin	23036	ZNF292	OMIM:619188
HP:0000331	Short chin	25	ABL1	OMIM:617602
HP:0000331	Short chin	667	DST	OMIM:614653
HP:0000331	Short chin	2475	MTOR	ORPHA:457485
HP:0000331	Short chin	2475	MTOR	OMIM:616638
HP:0000331	Short chin	4208	MEF2C	OMIM:613443
HP:0000331	Short chin	4654	MYOD1	OMIM:618975
HP:0000331	Short chin	6664	SOX11	OMIM:615866
HP:0000331	Short chin	5728	PTEN	ORPHA:79076
HP:0000331	Short chin	657	BMPR1A	ORPHA:79076
HP:0000331	Short chin	9401	RECQL4	OMIM:266280
HP:0010553	Oculogyric crisis	5805	PTS	ORPHA:13
HP:0010553	Oculogyric crisis	6531	SLC6A3	ORPHA:238455
HP:0010553	Oculogyric crisis	6531	SLC6A3	OMIM:613135
HP:0010553	Oculogyric crisis	10059	DNM1L	ORPHA:330050
HP:0010553	Oculogyric crisis	56521	DNAJC12	OMIM:617384
HP:0010553	Oculogyric crisis	6571	SLC18A2	OMIM:618049
HP:0010553	Oculogyric crisis	6571	SLC18A2	ORPHA:352649
HP:0010553	Oculogyric crisis	2902	GRIN1	OMIM:614254
HP:0010553	Oculogyric crisis	2902	GRIN1	ORPHA:208447
HP:0010553	Oculogyric crisis	23400	ATP13A2	ORPHA:306674
HP:0010553	Oculogyric crisis	60	ACTB	OMIM:607371
HP:0010553	Oculogyric crisis	1644	DDC	OMIM:608643
HP:0010553	Oculogyric crisis	9256	TSPOAP1	ORPHA:101150
HP:0010553	Oculogyric crisis	7054	TH	ORPHA:101150
HP:0010553	Oculogyric crisis	6697	SPR	ORPHA:70594
HP:0010553	Oculogyric crisis	5092	PCBD1	ORPHA:1578
HP:0010559	Vertical clivus	2316	FLNA	OMIM:304120
HP:0010559	Vertical clivus	57688	ZSWIM6	OMIM:603671
HP:0010558	Abnormality of the clivus	22943	DKK1	ORPHA:268882
HP:0010558	Abnormality of the clivus	2316	FLNA	OMIM:304120
HP:0010558	Abnormality of the clivus	57688	ZSWIM6	OMIM:603671
HP:0010557	Overlapping fingers	7169	TPM2	OMIM:108120
HP:0010557	Overlapping fingers	7169	TPM2	ORPHA:1147
HP:0010557	Overlapping fingers	7169	TPM2	ORPHA:1146
HP:0010557	Overlapping fingers	10682	EBP	ORPHA:401973
HP:0010557	Overlapping fingers	10682	EBP	OMIM:300960
HP:0010557	Overlapping fingers	91949	COG7	OMIM:608779
HP:0010557	Overlapping fingers	80347	COASY	OMIM:618266
HP:0010557	Overlapping fingers	50515	CHST11	OMIM:618167
HP:0010557	Overlapping fingers	54809	SAMD9	OMIM:617053
HP:0010557	Overlapping fingers	285489	DOK7	OMIM:618389
HP:0010557	Overlapping fingers	348180	CTU2	OMIM:618142
HP:0010557	Overlapping fingers	1272	CNTN1	OMIM:612540
HP:0010557	Overlapping fingers	7140	TNNT3	ORPHA:1147
HP:0010557	Overlapping fingers	7140	TNNT3	ORPHA:1146
HP:0010557	Overlapping fingers	7140	TNNT3	OMIM:618435
HP:0010557	Overlapping fingers	4621	MYH3	ORPHA:1147
HP:0010557	Overlapping fingers	4621	MYH3	ORPHA:1146
HP:0010557	Overlapping fingers	4621	MYH3	OMIM:618436
HP:0010557	Overlapping fingers	259232	NALCN	ORPHA:1147
HP:0010557	Overlapping fingers	259232	NALCN	ORPHA:1146
HP:0010557	Overlapping fingers	7136	TNNI2	ORPHA:1147
HP:0010557	Overlapping fingers	7136	TNNI2	ORPHA:1146
HP:0010557	Overlapping fingers	4604	MYBPC1	ORPHA:1146
HP:0010557	Overlapping fingers	81857	MED25	ORPHA:464738
HP:0010557	Overlapping fingers	7841	MOGS	OMIM:606056
HP:0010557	Overlapping fingers	7841	MOGS	ORPHA:79330
HP:0010557	Overlapping fingers	256297	PTF1A	OMIM:609069
HP:0010557	Overlapping fingers	79087	ALG12	ORPHA:79324
HP:0010557	Overlapping fingers	55593	OTUD5	OMIM:301056
HP:0010557	Overlapping fingers	23299	BICD2	OMIM:618291
HP:0010557	Overlapping fingers	129285	PPP1R21	OMIM:619383
HP:0010557	Overlapping fingers	91754	NEK9	OMIM:617022
HP:0010557	Overlapping fingers	8567	MADD	OMIM:619004
HP:0010557	Overlapping fingers	5297	PI4KA	OMIM:616531
HP:0010557	Overlapping fingers	5297	PI4KA	OMIM:619708
HP:0010557	Overlapping fingers	1822	ATN1	OMIM:618494
HP:0010557	Overlapping fingers	8985	PLOD3	OMIM:612394
HP:0010557	Overlapping fingers	84162	BLTP1	OMIM:617822
HP:0010557	Overlapping fingers	5591	PRKDC	OMIM:615966
HP:0010557	Overlapping fingers	4654	MYOD1	OMIM:618975
HP:0010557	Overlapping fingers	9772	TMEM94	OMIM:618316
HP:0010557	Overlapping fingers	2316	FLNA	OMIM:304120
HP:0010557	Overlapping fingers	2122	MECOM	OMIM:616738
HP:0010557	Overlapping fingers	26040	SETBP1	ORPHA:798
HP:0010557	Overlapping fingers	2121	EVC	ORPHA:952
HP:0010557	Overlapping fingers	132884	EVC2	ORPHA:952
HP:0010551	Paraplegia/paraparesis	3912	LAMB1	OMIM:615191
HP:0010551	Paraplegia/paraparesis	23111	SPART	OMIM:275900
HP:0010551	Paraplegia/paraparesis	8504	PEX3	OMIM:617370
HP:0010551	Paraplegia/paraparesis	79621	RNASEH2B	OMIM:610181
HP:0010551	Paraplegia/paraparesis	9420	CYP7B1	ORPHA:100986
HP:0010551	Paraplegia/paraparesis	9420	CYP7B1	OMIM:270800
HP:0010551	Paraplegia/paraparesis	123606	NIPA1	ORPHA:100988
HP:0010551	Paraplegia/paraparesis	123606	NIPA1	OMIM:600363
HP:0010551	Paraplegia/paraparesis	80821	DDHD1	OMIM:609340
HP:0010551	Paraplegia/paraparesis	4125	MAN2B1	ORPHA:309282
HP:0010551	Paraplegia/paraparesis	9131	AIFM1	ORPHA:83629
HP:0010551	Paraplegia/paraparesis	6567	SLC16A2	OMIM:300523
HP:0010551	Paraplegia/paraparesis	81790	RNF170	OMIM:619686
HP:0010551	Paraplegia/paraparesis	55182	RNF220	OMIM:619688
HP:0010551	Paraplegia/paraparesis	518	ATP5MC3	OMIM:619681
HP:0010551	Paraplegia/paraparesis	5077	PAX3	ORPHA:896
HP:0010551	Paraplegia/paraparesis	5077	PAX3	OMIM:148820
HP:0010551	Paraplegia/paraparesis	10166	SLC25A15	ORPHA:415
HP:0010551	Paraplegia/paraparesis	10166	SLC25A15	OMIM:238970
HP:0010551	Paraplegia/paraparesis	25778	DSTYK	OMIM:270750
HP:0010551	Paraplegia/paraparesis	25778	DSTYK	ORPHA:101003
HP:0010551	Paraplegia/paraparesis	51324	SPG21	OMIM:248900
HP:0010551	Paraplegia/paraparesis	10059	DNM1L	ORPHA:98673
HP:0010551	Paraplegia/paraparesis	4976	OPA1	ORPHA:98673
HP:0010551	Paraplegia/paraparesis	4976	OPA1	ORPHA:1215
HP:0010551	Paraplegia/paraparesis	10342	TFG	ORPHA:431329
HP:0010551	Paraplegia/paraparesis	10342	TFG	OMIM:615658
HP:0010551	Paraplegia/paraparesis	4204	MECP2	OMIM:300055
HP:0010551	Paraplegia/paraparesis	7345	UCHL1	OMIM:615491
HP:0010551	Paraplegia/paraparesis	5832	ALDH18A1	OMIM:616586
HP:0010551	Paraplegia/paraparesis	5832	ALDH18A1	OMIM:601162
HP:0010551	Paraplegia/paraparesis	64834	ELOVL1	OMIM:618527
HP:0010551	Paraplegia/paraparesis	118813	ZFYVE27	OMIM:610244
HP:0010551	Paraplegia/paraparesis	7920	ABHD16A	OMIM:619735
HP:0010551	Paraplegia/paraparesis	114034	TOE1	OMIM:614969
HP:0010551	Paraplegia/paraparesis	6843	VAMP1	OMIM:108600
HP:0010551	Paraplegia/paraparesis	6843	VAMP1	ORPHA:251282
HP:0010551	Paraplegia/paraparesis	546	ATRX	ORPHA:847
HP:0010551	Paraplegia/paraparesis	6513	SLC2A1	OMIM:601042
HP:0010551	Paraplegia/paraparesis	6513	SLC2A1	ORPHA:168577
HP:0010551	Paraplegia/paraparesis	6513	SLC2A1	ORPHA:53583
HP:0010551	Paraplegia/paraparesis	823	CAPN1	OMIM:616907
HP:0010551	Paraplegia/paraparesis	1130	LYST	ORPHA:167
HP:0010551	Paraplegia/paraparesis	26154	ABCA12	OMIM:601277
HP:0010551	Paraplegia/paraparesis	2632	GBE1	OMIM:263570
HP:0010551	Paraplegia/paraparesis	57599	WDR48	ORPHA:401800
HP:0010551	Paraplegia/paraparesis	776	CACNA1D	ORPHA:369929
HP:0010551	Paraplegia/paraparesis	65055	REEP1	OMIM:610250
HP:0010551	Paraplegia/paraparesis	11160	ERLIN2	OMIM:611225
HP:0010551	Paraplegia/paraparesis	113612	CYP2U1	OMIM:615030
HP:0010551	Paraplegia/paraparesis	113612	CYP2U1	ORPHA:320411
HP:0010551	Paraplegia/paraparesis	9895	TECPR2	OMIM:615031
HP:0010551	Paraplegia/paraparesis	91574	MTRFR	OMIM:615035
HP:0010551	Paraplegia/paraparesis	6812	STXBP1	OMIM:612164
HP:0010551	Paraplegia/paraparesis	23259	DDHD2	OMIM:615033
HP:0010551	Paraplegia/paraparesis	23259	DDHD2	ORPHA:320380
HP:0010551	Paraplegia/paraparesis	56270	WDR45B	OMIM:617977
HP:0010551	Paraplegia/paraparesis	8050	PDHX	OMIM:245349
HP:0010551	Paraplegia/paraparesis	22978	NT5C2	ORPHA:320396
HP:0010551	Paraplegia/paraparesis	22978	NT5C2	OMIM:613162
HP:0010551	Paraplegia/paraparesis	23064	SETX	ORPHA:357043
HP:0010551	Paraplegia/paraparesis	953	ENTPD1	OMIM:615683
HP:0010551	Paraplegia/paraparesis	83636	C19orf12	OMIM:615043
HP:0010551	Paraplegia/paraparesis	23204	ARL6IP1	OMIM:615685
HP:0010551	Paraplegia/paraparesis	271	AMPD2	OMIM:615686
HP:0010551	Paraplegia/paraparesis	9101	USP8	ORPHA:401795
HP:0010551	Paraplegia/paraparesis	2629	GBA1	ORPHA:2072
HP:0010551	Paraplegia/paraparesis	4099	MAG	ORPHA:459056
HP:0010551	Paraplegia/paraparesis	3329	HSPD1	OMIM:605280
HP:0010551	Paraplegia/paraparesis	3329	HSPD1	ORPHA:100994
HP:0010551	Paraplegia/paraparesis	3329	HSPD1	OMIM:612233
HP:0010551	Paraplegia/paraparesis	57679	ALS2	ORPHA:293168
HP:0010551	Paraplegia/paraparesis	57679	ALS2	OMIM:607225
HP:0010551	Paraplegia/paraparesis	57704	GBA2	OMIM:614409
HP:0010551	Paraplegia/paraparesis	26580	BSCL2	OMIM:270685
HP:0010551	Paraplegia/paraparesis	8139	GAN	OMIM:256850
HP:0010551	Paraplegia/paraparesis	84842	HPDL	OMIM:619026
HP:0010551	Paraplegia/paraparesis	84842	HPDL	OMIM:619027
HP:0010551	Paraplegia/paraparesis	84706	GPT2	ORPHA:477673
HP:0010551	Paraplegia/paraparesis	55656	INTS8	OMIM:618572
HP:0010551	Paraplegia/paraparesis	2583	B4GALNT1	OMIM:609195
HP:0010551	Paraplegia/paraparesis	51308	REEP2	OMIM:615625
HP:0010551	Paraplegia/paraparesis	57165	GJC2	OMIM:613206
HP:0010551	Paraplegia/paraparesis	137492	VPS37A	OMIM:614898
HP:0010551	Paraplegia/paraparesis	3798	KIF5A	OMIM:604187
HP:0010551	Paraplegia/paraparesis	4524	MTHFR	ORPHA:395
HP:0010551	Paraplegia/paraparesis	84265	POLR3GL	OMIM:619234
HP:0010551	Paraplegia/paraparesis	10159	ATP6AP2	ORPHA:363654
HP:0010551	Paraplegia/paraparesis	55532	SLC30A10	ORPHA:309854
HP:0010551	Paraplegia/paraparesis	55532	SLC30A10	OMIM:613280
HP:0010551	Paraplegia/paraparesis	9255	AIMP1	OMIM:260600
HP:0010551	Paraplegia/paraparesis	3425	IDUA	ORPHA:93474
HP:0010551	Paraplegia/paraparesis	3425	IDUA	ORPHA:93473
HP:0010551	Paraplegia/paraparesis	54880	BCOR	OMIM:300166
HP:0010551	Paraplegia/paraparesis	2670	GFAP	ORPHA:363722
HP:0010551	Paraplegia/paraparesis	440193	CCDC88C	OMIM:616053
HP:0010551	Paraplegia/paraparesis	440193	CCDC88C	ORPHA:423275
HP:0010551	Paraplegia/paraparesis	80207	OPA3	ORPHA:67047
HP:0010551	Paraplegia/paraparesis	125988	MICOS13	ORPHA:67047
HP:0010551	Paraplegia/paraparesis	80347	COASY	OMIM:615643
HP:0010551	Paraplegia/paraparesis	80347	COASY	ORPHA:397725
HP:0010551	Paraplegia/paraparesis	9409	PEX16	OMIM:614877
HP:0010551	Paraplegia/paraparesis	1910	EDNRB	OMIM:277580
HP:0010551	Paraplegia/paraparesis	11152	WDR45	ORPHA:329284
HP:0010551	Paraplegia/paraparesis	11152	WDR45	OMIM:300894
HP:0010551	Paraplegia/paraparesis	93587	TRMT10A	ORPHA:391408
HP:0010551	Paraplegia/paraparesis	84919	PPP1R15B	ORPHA:391408
HP:0010551	Paraplegia/paraparesis	55149	MTPAP	OMIM:613672
HP:0010551	Paraplegia/paraparesis	55149	MTPAP	ORPHA:254343
HP:0010551	Paraplegia/paraparesis	6390	SDHB	ORPHA:3208
HP:0010551	Paraplegia/paraparesis	6392	SDHD	ORPHA:3208
HP:0010551	Paraplegia/paraparesis	644096	SDHAF1	ORPHA:3208
HP:0010551	Paraplegia/paraparesis	10939	AFG3L2	OMIM:614487
HP:0010551	Paraplegia/paraparesis	10939	AFG3L2	ORPHA:313772
HP:0010551	Paraplegia/paraparesis	383	ARG1	OMIM:207800
HP:0010551	Paraplegia/paraparesis	2806	GOT2	OMIM:618721
HP:0010551	Paraplegia/paraparesis	84188	FAR1	OMIM:619338
HP:0010551	Paraplegia/paraparesis	686	BTD	ORPHA:79241
HP:0010551	Paraplegia/paraparesis	23389	MED13L	ORPHA:369891
HP:0010551	Paraplegia/paraparesis	224	ALDH3A2	OMIM:270200
HP:0010551	Paraplegia/paraparesis	4860	PNP	ORPHA:760
HP:0010551	Paraplegia/paraparesis	58497	PRUNE1	ORPHA:544469
HP:0010551	Paraplegia/paraparesis	10535	RNASEH2A	ORPHA:51
HP:0010551	Paraplegia/paraparesis	84153	RNASEH2C	ORPHA:51
HP:0010551	Paraplegia/paraparesis	25939	SAMHD1	ORPHA:51
HP:0010551	Paraplegia/paraparesis	103	ADAR	ORPHA:51
HP:0010551	Paraplegia/paraparesis	11277	TREX1	ORPHA:51
HP:0010551	Paraplegia/paraparesis	100147744	RNU7-1	ORPHA:51
HP:0010551	Paraplegia/paraparesis	134353	LSM11	ORPHA:51
HP:0010551	Paraplegia/paraparesis	64135	IFIH1	ORPHA:51
HP:0010551	Paraplegia/paraparesis	427	ASAH1	ORPHA:333
HP:0010551	Paraplegia/paraparesis	1593	CYP27A1	ORPHA:909
HP:0010551	Paraplegia/paraparesis	1213	CLTC	OMIM:617854
HP:0010551	Paraplegia/paraparesis	54902	TTC19	OMIM:615157
HP:0010551	Paraplegia/paraparesis	9289	ADGRG1	ORPHA:98889
HP:0010551	Paraplegia/paraparesis	5297	PI4KA	ORPHA:98889
HP:0010551	Paraplegia/paraparesis	27286	SRPX2	ORPHA:98889
HP:0010551	Paraplegia/paraparesis	2521	FUS	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	8878	SQSTM1	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	7415	VCP	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	23435	TARDBP	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	29110	TBK1	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	400916	CHCHD10	ORPHA:275872
HP:0010551	Paraplegia/paraparesis	5428	POLG	ORPHA:726
HP:0010551	Paraplegia/paraparesis	3431	SP110	ORPHA:79124
HP:0010551	Paraplegia/paraparesis	203228	C9orf72	OMIM:105550
HP:0010551	Paraplegia/paraparesis	5631	PRPS1	ORPHA:99014
HP:0010551	Paraplegia/paraparesis	4763	NF1	OMIM:162210
HP:0010551	Paraplegia/paraparesis	215	ABCD1	OMIM:300100
HP:0010551	Paraplegia/paraparesis	2705	GJB1	OMIM:302800
HP:0010551	Paraplegia/paraparesis	80208	SPG11	ORPHA:2822
HP:0010551	Paraplegia/paraparesis	80199	FUZ	ORPHA:1136
HP:0010551	Paraplegia/paraparesis	8792	TNFRSF11A	OMIM:602080
HP:0010551	Paraplegia/paraparesis	498	ATP5F1A	OMIM:620358
HP:0010551	Paraplegia/paraparesis	2697	GJA1	OMIM:164200
HP:0010551	Paraplegia/paraparesis	2593	GAMT	OMIM:612736
HP:0010551	Paraplegia/paraparesis	25782	RAB3GAP2	ORPHA:401830
HP:0010551	Paraplegia/paraparesis	6389	SDHA	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	80704	SLC19A3	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	91942	NDUFAF2	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	6834	SURF1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4723	NDUFV1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	55572	FOXRED1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4729	NDUFV2	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	55967	NDUFA12	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	51204	TACO1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4720	NDUFS2	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4724	NDUFS4	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4728	NDUFS8	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	137682	NDUFAF6	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4722	NDUFS3	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	79133	NDUFAF5	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	5160	PDHA1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	100131801	PET100	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	1355	COX15	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	1892	ECHS1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	123263	MTFMT	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	51079	NDUFA13	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	374291	NDUFS7	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4705	NDUFA10	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	51601	LIPT1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4719	NDUFS1	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4695	NDUFA2	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4697	NDUFA4	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	4704	NDUFA9	ORPHA:255241
HP:0010551	Paraplegia/paraparesis	85465	SELENOI	ORPHA:506353
HP:0010551	Paraplegia/paraparesis	10717	AP4B1	ORPHA:280763
HP:0010551	Paraplegia/paraparesis	9179	AP4M1	ORPHA:280763
HP:0010551	Paraplegia/paraparesis	11154	AP4S1	ORPHA:280763
HP:0010551	Paraplegia/paraparesis	23431	AP4E1	ORPHA:280763
HP:0010551	Paraplegia/paraparesis	547	KIF1A	ORPHA:101010
HP:0010551	Paraplegia/paraparesis	23769	FLRT1	ORPHA:320406
HP:0010551	Paraplegia/paraparesis	64837	KLC2	ORPHA:320406
HP:0010551	Paraplegia/paraparesis	9897	WASHC5	ORPHA:100989
HP:0010551	Paraplegia/paraparesis	8242	KDM5C	OMIM:300534
HP:0010551	Paraplegia/paraparesis	340075	ARSI	ORPHA:401815
HP:0010551	Paraplegia/paraparesis	9197	SLC33A1	ORPHA:171863
HP:0010551	Paraplegia/paraparesis	4141	MARS1	ORPHA:401835
HP:0010551	Paraplegia/paraparesis	339855	KY	ORPHA:496689
HP:0010551	Paraplegia/paraparesis	57498	KIDINS220	ORPHA:521390
HP:0010551	Paraplegia/paraparesis	10908	PNPLA6	OMIM:612020
HP:0010551	Paraplegia/paraparesis	22948	CCT5	ORPHA:139578
HP:0010551	Paraplegia/paraparesis	4508	MT-ATP6	ORPHA:320360
HP:0010551	Paraplegia/paraparesis	51663	ZFR	ORPHA:401840
HP:0010551	Paraplegia/paraparesis	6253	RTN2	ORPHA:100993
HP:0010551	Paraplegia/paraparesis	51271	UBAP1	ORPHA:100993
HP:0010551	Paraplegia/paraparesis	126129	CPT1C	ORPHA:444099
HP:0010551	Paraplegia/paraparesis	200205	IBA57	ORPHA:468661
HP:0010551	Paraplegia/paraparesis	57531	HACE1	ORPHA:464282
HP:0010551	Paraplegia/paraparesis	23400	ATP13A2	ORPHA:513436
HP:0010551	Paraplegia/paraparesis	5354	PLP1	ORPHA:280234
HP:0010551	Paraplegia/paraparesis	80055	PGAP1	ORPHA:401820
HP:0010551	Paraplegia/paraparesis	3839	KPNA3	ORPHA:171612
HP:0010551	Paraplegia/paraparesis	79152	FA2H	ORPHA:329308
HP:0010551	Paraplegia/paraparesis	9907	AP5Z1	ORPHA:306511
HP:0010551	Paraplegia/paraparesis	10667	FARS2	ORPHA:466722
HP:0010551	Paraplegia/paraparesis	6687	SPG7	ORPHA:35689
HP:0010551	Paraplegia/paraparesis	2581	GALC	ORPHA:206448
HP:0010551	Paraplegia/paraparesis	6905	TBCE	ORPHA:496756
HP:0010551	Paraplegia/paraparesis	54809	SAMD9	OMIM:617053
HP:0010551	Paraplegia/paraparesis	162417	NAGS	ORPHA:927
HP:0010551	Paraplegia/paraparesis	5921	RASA1	ORPHA:90307
HP:0010551	Paraplegia/paraparesis	6683	SPAST	OMIM:182601
HP:0010551	Paraplegia/paraparesis	51062	ATL1	OMIM:182600
HP:0010551	Paraplegia/paraparesis	7276	TTR	OMIM:105210
HP:0010551	Paraplegia/paraparesis	23503	ZFYVE26	OMIM:270700
HP:0010551	Paraplegia/paraparesis	3897	L1CAM	OMIM:303350
HP:0010551	Paraplegia/paraparesis	5053	PAH	ORPHA:79254
HP:0010551	Paraplegia/paraparesis	150468	CKAP2L	ORPHA:3255
HP:0010551	Paraplegia/paraparesis	2260	FGFR1	ORPHA:478
HP:0010551	Paraplegia/paraparesis	10371	SEMA3A	ORPHA:478
HP:0010551	Paraplegia/paraparesis	81848	SPRY4	ORPHA:478
HP:0010551	Paraplegia/paraparesis	23767	FLRT3	ORPHA:478
HP:0010551	Paraplegia/paraparesis	128674	PROKR2	ORPHA:478
HP:0010551	Paraplegia/paraparesis	79625	NDNF	ORPHA:478
HP:0010551	Paraplegia/paraparesis	2253	FGF8	ORPHA:478
HP:0010551	Paraplegia/paraparesis	389549	FEZF1	ORPHA:478
HP:0010551	Paraplegia/paraparesis	1630	DCC	ORPHA:478
HP:0010551	Paraplegia/paraparesis	3730	ANOS1	ORPHA:478
HP:0010551	Paraplegia/paraparesis	54756	IL17RD	ORPHA:478
HP:0010551	Paraplegia/paraparesis	6663	SOX10	ORPHA:478
HP:0010551	Paraplegia/paraparesis	285025	CCDC141	ORPHA:478
HP:0010551	Paraplegia/paraparesis	60675	PROK2	ORPHA:478
HP:0010551	Paraplegia/paraparesis	55636	CHD7	ORPHA:478
HP:0010551	Paraplegia/paraparesis	1848	DUSP6	ORPHA:478
HP:0010551	Paraplegia/paraparesis	6870	TACR3	ORPHA:478
HP:0010551	Paraplegia/paraparesis	55717	WDR11	ORPHA:478
HP:0010551	Paraplegia/paraparesis	9394	HS6ST1	ORPHA:478
HP:0010551	Paraplegia/paraparesis	8820	HESX1	ORPHA:478
HP:0010551	Paraplegia/paraparesis	8822	FGF17	ORPHA:478
HP:0010551	Paraplegia/paraparesis	10755	GIPC1	ORPHA:98897
HP:0010551	Paraplegia/paraparesis	100996717	NOTCH2NLC	ORPHA:98897
HP:0010551	Paraplegia/paraparesis	126792	B3GALT6	OMIM:271640
HP:0010551	Paraplegia/paraparesis	404672	GTF2H5	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	833	CARS1	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	2068	ERCC2	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	7737	RNF113A	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	136647	MPLKIP	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	6897	TARS1	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	2071	ERCC3	ORPHA:33364
HP:0010551	Paraplegia/paraparesis	2961	GTF2E2	ORPHA:33364
HP:0010550	Paraplegia	3912	LAMB1	OMIM:615191
HP:0010550	Paraplegia	23111	SPART	OMIM:275900
HP:0010550	Paraplegia	8504	PEX3	OMIM:617370
HP:0010550	Paraplegia	79621	RNASEH2B	OMIM:610181
HP:0010550	Paraplegia	9420	CYP7B1	ORPHA:100986
HP:0010550	Paraplegia	9420	CYP7B1	OMIM:270800
HP:0010550	Paraplegia	123606	NIPA1	ORPHA:100988
HP:0010550	Paraplegia	123606	NIPA1	OMIM:600363
HP:0010550	Paraplegia	80821	DDHD1	OMIM:609340
HP:0010550	Paraplegia	4125	MAN2B1	ORPHA:309282
HP:0010550	Paraplegia	9131	AIFM1	ORPHA:83629
HP:0010550	Paraplegia	6567	SLC16A2	OMIM:300523
HP:0010550	Paraplegia	81790	RNF170	OMIM:619686
HP:0010550	Paraplegia	55182	RNF220	OMIM:619688
HP:0010550	Paraplegia	518	ATP5MC3	OMIM:619681
HP:0010550	Paraplegia	5077	PAX3	ORPHA:896
HP:0010550	Paraplegia	5077	PAX3	OMIM:148820
HP:0010550	Paraplegia	10166	SLC25A15	ORPHA:415
HP:0010550	Paraplegia	10166	SLC25A15	OMIM:238970
HP:0010550	Paraplegia	25778	DSTYK	OMIM:270750
HP:0010550	Paraplegia	25778	DSTYK	ORPHA:101003
HP:0010550	Paraplegia	51324	SPG21	OMIM:248900
HP:0010550	Paraplegia	10059	DNM1L	ORPHA:98673
HP:0010550	Paraplegia	4976	OPA1	ORPHA:98673
HP:0010550	Paraplegia	4976	OPA1	ORPHA:1215
HP:0010550	Paraplegia	10342	TFG	ORPHA:431329
HP:0010550	Paraplegia	10342	TFG	OMIM:615658
HP:0010550	Paraplegia	4204	MECP2	OMIM:300055
HP:0010550	Paraplegia	7345	UCHL1	OMIM:615491
HP:0010550	Paraplegia	5832	ALDH18A1	OMIM:616586
HP:0010550	Paraplegia	5832	ALDH18A1	OMIM:601162
HP:0010550	Paraplegia	64834	ELOVL1	OMIM:618527
HP:0010550	Paraplegia	118813	ZFYVE27	OMIM:610244
HP:0010550	Paraplegia	7920	ABHD16A	OMIM:619735
HP:0010550	Paraplegia	114034	TOE1	OMIM:614969
HP:0010550	Paraplegia	6843	VAMP1	OMIM:108600
HP:0010550	Paraplegia	6843	VAMP1	ORPHA:251282
HP:0010550	Paraplegia	546	ATRX	ORPHA:847
HP:0010550	Paraplegia	6513	SLC2A1	OMIM:601042
HP:0010550	Paraplegia	6513	SLC2A1	ORPHA:168577
HP:0010550	Paraplegia	6513	SLC2A1	ORPHA:53583
HP:0010550	Paraplegia	823	CAPN1	OMIM:616907
HP:0010550	Paraplegia	1130	LYST	ORPHA:167
HP:0010550	Paraplegia	26154	ABCA12	OMIM:601277
HP:0010550	Paraplegia	2632	GBE1	OMIM:263570
HP:0010550	Paraplegia	6687	SPG7	OMIM:607259
HP:0010550	Paraplegia	57599	WDR48	ORPHA:401800
HP:0010550	Paraplegia	215	ABCD1	OMIM:300100
HP:0010550	Paraplegia	5297	PI4KA	OMIM:619621
HP:0010550	Paraplegia	776	CACNA1D	ORPHA:369929
HP:0010550	Paraplegia	65055	REEP1	OMIM:610250
HP:0010550	Paraplegia	11160	ERLIN2	OMIM:611225
HP:0010550	Paraplegia	113612	CYP2U1	OMIM:615030
HP:0010550	Paraplegia	113612	CYP2U1	ORPHA:320411
HP:0010550	Paraplegia	9895	TECPR2	OMIM:615031
HP:0010550	Paraplegia	91574	MTRFR	OMIM:615035
HP:0010550	Paraplegia	6812	STXBP1	OMIM:612164
HP:0010550	Paraplegia	23259	DDHD2	OMIM:615033
HP:0010550	Paraplegia	23259	DDHD2	ORPHA:320380
HP:0010550	Paraplegia	56270	WDR45B	OMIM:617977
HP:0010550	Paraplegia	8050	PDHX	OMIM:245349
HP:0010550	Paraplegia	22978	NT5C2	ORPHA:320396
HP:0010550	Paraplegia	22978	NT5C2	OMIM:613162
HP:0010550	Paraplegia	23064	SETX	ORPHA:357043
HP:0010550	Paraplegia	953	ENTPD1	OMIM:615683
HP:0010550	Paraplegia	83636	C19orf12	OMIM:615043
HP:0010550	Paraplegia	23204	ARL6IP1	OMIM:615685
HP:0010550	Paraplegia	271	AMPD2	OMIM:615686
HP:0010550	Paraplegia	80208	SPG11	OMIM:604360
HP:0010550	Paraplegia	9101	USP8	ORPHA:401795
HP:0010550	Paraplegia	2629	GBA1	ORPHA:2072
HP:0010550	Paraplegia	4099	MAG	ORPHA:459056
HP:0010550	Paraplegia	3329	HSPD1	OMIM:605280
HP:0010550	Paraplegia	3329	HSPD1	ORPHA:100994
HP:0010550	Paraplegia	3329	HSPD1	OMIM:612233
HP:0010550	Paraplegia	57679	ALS2	ORPHA:293168
HP:0010550	Paraplegia	57679	ALS2	OMIM:607225
HP:0010550	Paraplegia	7415	VCP	ORPHA:329475
HP:0010550	Paraplegia	57704	GBA2	OMIM:614409
HP:0010550	Paraplegia	26580	BSCL2	OMIM:270685
HP:0010550	Paraplegia	8139	GAN	OMIM:256850
HP:0010550	Paraplegia	84842	HPDL	OMIM:619026
HP:0010550	Paraplegia	84842	HPDL	OMIM:619027
HP:0010550	Paraplegia	84706	GPT2	ORPHA:477673
HP:0010550	Paraplegia	55656	INTS8	OMIM:618572
HP:0010550	Paraplegia	2583	B4GALNT1	OMIM:609195
HP:0010550	Paraplegia	51308	REEP2	OMIM:615625
HP:0010550	Paraplegia	57165	GJC2	OMIM:613206
HP:0010550	Paraplegia	137492	VPS37A	OMIM:614898
HP:0010550	Paraplegia	3798	KIF5A	OMIM:604187
HP:0010550	Paraplegia	25782	RAB3GAP2	ORPHA:401830
HP:0010550	Paraplegia	6389	SDHA	ORPHA:255241
HP:0010550	Paraplegia	80704	SLC19A3	ORPHA:255241
HP:0010550	Paraplegia	91942	NDUFAF2	ORPHA:255241
HP:0010550	Paraplegia	6834	SURF1	ORPHA:255241
HP:0010550	Paraplegia	4723	NDUFV1	ORPHA:255241
HP:0010550	Paraplegia	55572	FOXRED1	ORPHA:255241
HP:0010550	Paraplegia	4729	NDUFV2	ORPHA:255241
HP:0010550	Paraplegia	55967	NDUFA12	ORPHA:255241
HP:0010550	Paraplegia	51204	TACO1	ORPHA:255241
HP:0010550	Paraplegia	4720	NDUFS2	ORPHA:255241
HP:0010550	Paraplegia	4724	NDUFS4	ORPHA:255241
HP:0010550	Paraplegia	4728	NDUFS8	ORPHA:255241
HP:0010550	Paraplegia	137682	NDUFAF6	ORPHA:255241
HP:0010550	Paraplegia	4722	NDUFS3	ORPHA:255241
HP:0010550	Paraplegia	79133	NDUFAF5	ORPHA:255241
HP:0010550	Paraplegia	5160	PDHA1	ORPHA:255241
HP:0010550	Paraplegia	100131801	PET100	ORPHA:255241
HP:0010550	Paraplegia	1355	COX15	ORPHA:255241
HP:0010550	Paraplegia	1892	ECHS1	ORPHA:255241
HP:0010550	Paraplegia	123263	MTFMT	ORPHA:255241
HP:0010550	Paraplegia	51079	NDUFA13	ORPHA:255241
HP:0010550	Paraplegia	374291	NDUFS7	ORPHA:255241
HP:0010550	Paraplegia	4705	NDUFA10	ORPHA:255241
HP:0010550	Paraplegia	51601	LIPT1	ORPHA:255241
HP:0010550	Paraplegia	4719	NDUFS1	ORPHA:255241
HP:0010550	Paraplegia	4695	NDUFA2	ORPHA:255241
HP:0010550	Paraplegia	4697	NDUFA4	ORPHA:255241
HP:0010550	Paraplegia	4704	NDUFA9	ORPHA:255241
HP:0010550	Paraplegia	85465	SELENOI	ORPHA:506353
HP:0010550	Paraplegia	10717	AP4B1	ORPHA:280763
HP:0010550	Paraplegia	9179	AP4M1	ORPHA:280763
HP:0010550	Paraplegia	11154	AP4S1	ORPHA:280763
HP:0010550	Paraplegia	23431	AP4E1	ORPHA:280763
HP:0010550	Paraplegia	547	KIF1A	ORPHA:101010
HP:0010550	Paraplegia	23769	FLRT1	ORPHA:320406
HP:0010550	Paraplegia	64837	KLC2	ORPHA:320406
HP:0010550	Paraplegia	9897	WASHC5	ORPHA:100989
HP:0010550	Paraplegia	8242	KDM5C	OMIM:300534
HP:0010550	Paraplegia	340075	ARSI	ORPHA:401815
HP:0010550	Paraplegia	9197	SLC33A1	ORPHA:171863
HP:0010550	Paraplegia	4141	MARS1	ORPHA:401835
HP:0010550	Paraplegia	339855	KY	ORPHA:496689
HP:0010550	Paraplegia	57498	KIDINS220	ORPHA:521390
HP:0010550	Paraplegia	10908	PNPLA6	OMIM:612020
HP:0010550	Paraplegia	22948	CCT5	ORPHA:139578
HP:0010550	Paraplegia	4508	MT-ATP6	ORPHA:320360
HP:0010550	Paraplegia	51663	ZFR	ORPHA:401840
HP:0010550	Paraplegia	6253	RTN2	ORPHA:100993
HP:0010550	Paraplegia	51271	UBAP1	ORPHA:100993
HP:0010550	Paraplegia	126129	CPT1C	ORPHA:444099
HP:0010550	Paraplegia	200205	IBA57	ORPHA:468661
HP:0010550	Paraplegia	57531	HACE1	ORPHA:464282
HP:0010550	Paraplegia	23400	ATP13A2	ORPHA:513436
HP:0010550	Paraplegia	5354	PLP1	ORPHA:280234
HP:0010550	Paraplegia	80055	PGAP1	ORPHA:401820
HP:0010550	Paraplegia	3839	KPNA3	ORPHA:171612
HP:0010550	Paraplegia	79152	FA2H	ORPHA:329308
HP:0010550	Paraplegia	9907	AP5Z1	ORPHA:306511
HP:0010550	Paraplegia	10667	FARS2	ORPHA:466722
HP:0010550	Paraplegia	54809	SAMD9	OMIM:617053
HP:0010550	Paraplegia	162417	NAGS	ORPHA:927
HP:0010550	Paraplegia	5921	RASA1	ORPHA:90307
HP:0010550	Paraplegia	6683	SPAST	OMIM:182601
HP:0010550	Paraplegia	51062	ATL1	OMIM:182600
HP:0010550	Paraplegia	3431	SP110	ORPHA:79124
HP:0010550	Paraplegia	7276	TTR	OMIM:105210
HP:0010550	Paraplegia	23503	ZFYVE26	OMIM:270700
HP:0010550	Paraplegia	80199	FUZ	ORPHA:1136
HP:0010550	Paraplegia	3897	L1CAM	OMIM:303350
HP:0010550	Paraplegia	5053	PAH	ORPHA:79254
HP:0010550	Paraplegia	150468	CKAP2L	ORPHA:3255
HP:0010550	Paraplegia	2260	FGFR1	ORPHA:478
HP:0010550	Paraplegia	10371	SEMA3A	ORPHA:478
HP:0010550	Paraplegia	81848	SPRY4	ORPHA:478
HP:0010550	Paraplegia	23767	FLRT3	ORPHA:478
HP:0010550	Paraplegia	128674	PROKR2	ORPHA:478
HP:0010550	Paraplegia	79625	NDNF	ORPHA:478
HP:0010550	Paraplegia	2253	FGF8	ORPHA:478
HP:0010550	Paraplegia	389549	FEZF1	ORPHA:478
HP:0010550	Paraplegia	1630	DCC	ORPHA:478
HP:0010550	Paraplegia	3730	ANOS1	ORPHA:478
HP:0010550	Paraplegia	54756	IL17RD	ORPHA:478
HP:0010550	Paraplegia	6663	SOX10	ORPHA:478
HP:0010550	Paraplegia	285025	CCDC141	ORPHA:478
HP:0010550	Paraplegia	60675	PROK2	ORPHA:478
HP:0010550	Paraplegia	55636	CHD7	ORPHA:478
HP:0010550	Paraplegia	1848	DUSP6	ORPHA:478
HP:0010550	Paraplegia	6870	TACR3	ORPHA:478
HP:0010550	Paraplegia	55717	WDR11	ORPHA:478
HP:0010550	Paraplegia	9394	HS6ST1	ORPHA:478
HP:0010550	Paraplegia	8820	HESX1	ORPHA:478
HP:0010550	Paraplegia	8822	FGF17	ORPHA:478
HP:0010550	Paraplegia	10755	GIPC1	ORPHA:98897
HP:0010550	Paraplegia	100996717	NOTCH2NLC	ORPHA:98897
HP:0010550	Paraplegia	126792	B3GALT6	OMIM:271640
HP:0007500	Decreased number of sweat glands	3861	KRT14	ORPHA:69087
HP:0007500	Decreased number of sweat glands	8626	TP63	OMIM:129400
HP:0030991	Sclerosing cholangitis	9076	CLDN1	OMIM:607626
HP:0030991	Sclerosing cholangitis	5994	RFXAP	ORPHA:572
HP:0030991	Sclerosing cholangitis	4261	CIITA	ORPHA:572
HP:0030991	Sclerosing cholangitis	5993	RFX5	ORPHA:572
HP:0030991	Sclerosing cholangitis	8625	RFXANK	ORPHA:572
HP:0030991	Sclerosing cholangitis	5966	REL	OMIM:619652
HP:0030991	Sclerosing cholangitis	5244	ABCB4	ORPHA:69663
HP:0030991	Sclerosing cholangitis	51473	DCDC2	OMIM:617394
HP:0030991	Sclerosing cholangitis	959	CD40LG	OMIM:308230
HP:0030991	Sclerosing cholangitis	113220	KIF12	OMIM:619662
HP:0030992	Abnormal pancreatic duct morphology	11330	CTRC	ORPHA:103918
HP:0030992	Abnormal pancreatic duct morphology	6690	SPINK1	ORPHA:103918
HP:0030992	Abnormal pancreatic duct morphology	2317	FLNB	ORPHA:1190
HP:0030996	Megaduodenum	5885	RAD21	OMIM:611376
HP:0030996	Megaduodenum	4629	MYH11	OMIM:619350
HP:0030996	Megaduodenum	72	ACTG2	OMIM:155310
HP:0030997	Atretic vas deferens	6928	HNF1B	OMIM:137920
HP:0030998	Cerebrospinal fluid rhinorrhoea	3514	IGKC	ORPHA:183675
HP:0030998	Cerebrospinal fluid rhinorrhoea	3501	IGHG2	ORPHA:183675
HP:0000343	Long philtrum	2137	EXTL3	ORPHA:508533
HP:0000343	Long philtrum	51399	TRAPPC4	OMIM:618741
HP:0000343	Long philtrum	23019	CNOT1	OMIM:618500
HP:0000343	Long philtrum	28981	IFT81	OMIM:617895
HP:0000343	Long philtrum	5728	PTEN	OMIM:605309
HP:0000343	Long philtrum	5728	PTEN	ORPHA:109
HP:0000343	Long philtrum	8425	LTBP4	OMIM:613177
HP:0000343	Long philtrum	9820	CUL7	ORPHA:2616
HP:0000343	Long philtrum	9820	CUL7	OMIM:273750
HP:0000343	Long philtrum	23363	OBSL1	ORPHA:2616
HP:0000343	Long philtrum	23363	OBSL1	OMIM:612921
HP:0000343	Long philtrum	83987	CCDC8	ORPHA:2616
HP:0000343	Long philtrum	83987	CCDC8	OMIM:614205
HP:0000343	Long philtrum	7360	UGP2	OMIM:618744
HP:0000343	Long philtrum	538	ATP7A	OMIM:304150
HP:0000343	Long philtrum	538	ATP7A	ORPHA:198
HP:0000343	Long philtrum	5457	POU4F1	ORPHA:314647
HP:0000343	Long philtrum	23261	CAMTA1	ORPHA:314647
HP:0000343	Long philtrum	23261	CAMTA1	OMIM:614756
HP:0000343	Long philtrum	55209	SETD5	ORPHA:404440
HP:0000343	Long philtrum	55209	SETD5	OMIM:615761
HP:0000343	Long philtrum	1836	SLC26A2	ORPHA:56304
HP:0000343	Long philtrum	1836	SLC26A2	ORPHA:93298
HP:0000343	Long philtrum	10743	RAI1	ORPHA:477817
HP:0000343	Long philtrum	197131	UBR1	OMIM:243800
HP:0000343	Long philtrum	3020	H3-3A	OMIM:619720
HP:0000343	Long philtrum	3021	H3-3B	OMIM:619721
HP:0000343	Long philtrum	51741	WWOX	OMIM:616211
HP:0000343	Long philtrum	1855	DVL1	OMIM:616331
HP:0000343	Long philtrum	1855	DVL1	OMIM:180700
HP:0000343	Long philtrum	1855	DVL1	ORPHA:3107
HP:0000343	Long philtrum	55790	CSGALNACT1	OMIM:618870
HP:0000343	Long philtrum	79639	TMEM53	OMIM:619727
HP:0000343	Long philtrum	2132	EXT2	ORPHA:466926
HP:0000343	Long philtrum	23384	SPECC1L	ORPHA:1519
HP:0000343	Long philtrum	23384	SPECC1L	OMIM:145420
HP:0000343	Long philtrum	3764	KCNJ8	ORPHA:1517
HP:0000343	Long philtrum	10060	ABCC9	ORPHA:1517
HP:0000343	Long philtrum	10060	ABCC9	OMIM:239850
HP:0000343	Long philtrum	79158	GNPTAB	OMIM:252500
HP:0000343	Long philtrum	57231	SNX14	ORPHA:397709
HP:0000343	Long philtrum	57231	SNX14	OMIM:616354
HP:0000343	Long philtrum	57589	RIC1	OMIM:618761
HP:0000343	Long philtrum	79868	ALG13	ORPHA:324422
HP:0000343	Long philtrum	129685	TAF8	OMIM:619972
HP:0000343	Long philtrum	818	CAMK2G	OMIM:618522
HP:0000343	Long philtrum	54453	RIN2	OMIM:613075
HP:0000343	Long philtrum	54453	RIN2	ORPHA:217335
HP:0000343	Long philtrum	9469	CHST3	OMIM:143095
HP:0000343	Long philtrum	9469	CHST3	ORPHA:263463
HP:0000343	Long philtrum	9469	CHST3	OMIM:245600
HP:0000343	Long philtrum	113189	CHST14	ORPHA:2953
HP:0000343	Long philtrum	113189	CHST14	OMIM:601776
HP:0000343	Long philtrum	29940	DSE	ORPHA:2953
HP:0000343	Long philtrum	29940	DSE	OMIM:615539
HP:0000343	Long philtrum	54880	BCOR	ORPHA:2712
HP:0000343	Long philtrum	54880	BCOR	OMIM:300166
HP:0000343	Long philtrum	23545	ATP6V0A2	ORPHA:2834
HP:0000343	Long philtrum	23545	ATP6V0A2	OMIM:278250
HP:0000343	Long philtrum	23545	ATP6V0A2	OMIM:219200
HP:0000343	Long philtrum	23545	ATP6V0A2	ORPHA:357074
HP:0000343	Long philtrum	4853	NOTCH2	OMIM:102500
HP:0000343	Long philtrum	4853	NOTCH2	ORPHA:955
HP:0000343	Long philtrum	64359	NXN	OMIM:618529
HP:0000343	Long philtrum	64359	NXN	ORPHA:1507
HP:0000343	Long philtrum	9968	MED12	ORPHA:93932
HP:0000343	Long philtrum	9968	MED12	OMIM:305450
HP:0000343	Long philtrum	9968	MED12	OMIM:300895
HP:0000343	Long philtrum	79184	BRCC3	ORPHA:280679
HP:0000343	Long philtrum	4920	ROR2	ORPHA:1507
HP:0000343	Long philtrum	4920	ROR2	OMIM:268310
HP:0000343	Long philtrum	6872	TAF1	ORPHA:480907
HP:0000343	Long philtrum	6872	TAF1	OMIM:300966
HP:0000343	Long philtrum	10484	SEC23A	OMIM:607812
HP:0000343	Long philtrum	10484	SEC23A	ORPHA:50814
HP:0000343	Long philtrum	4763	NF1	ORPHA:363700
HP:0000343	Long philtrum	54968	TMEM70	OMIM:614052
HP:0000343	Long philtrum	4297	KMT2A	ORPHA:319182
HP:0000343	Long philtrum	4297	KMT2A	OMIM:605130
HP:0000343	Long philtrum	1301	COL11A1	OMIM:228520
HP:0000343	Long philtrum	1301	COL11A1	ORPHA:560
HP:0000343	Long philtrum	1301	COL11A1	OMIM:154780
HP:0000343	Long philtrum	55714	TENM3	OMIM:615145
HP:0000343	Long philtrum	1280	COL2A1	ORPHA:90653
HP:0000343	Long philtrum	1280	COL2A1	ORPHA:166100
HP:0000343	Long philtrum	1280	COL2A1	OMIM:200610
HP:0000343	Long philtrum	57178	ZMIZ1	OMIM:618659
HP:0000343	Long philtrum	55012	PPP2R3C	OMIM:618419
HP:0000343	Long philtrum	93627	TBCK	ORPHA:488632
HP:0000343	Long philtrum	200734	SPRED2	OMIM:619745
HP:0000343	Long philtrum	64132	XYLT2	ORPHA:85194
HP:0000343	Long philtrum	4247	MGAT2	OMIM:212066
HP:0000343	Long philtrum	1499	CTNNB1	ORPHA:404473
HP:0000343	Long philtrum	1499	CTNNB1	OMIM:615075
HP:0000343	Long philtrum	2074	ERCC6	OMIM:214150
HP:0000343	Long philtrum	1182	CLCN3	OMIM:619512
HP:0000343	Long philtrum	29081	METTL5	OMIM:618665
HP:0000343	Long philtrum	6905	TBCE	OMIM:241410
HP:0000343	Long philtrum	6905	TBCE	ORPHA:2323
HP:0000343	Long philtrum	51604	PIGT	OMIM:615398
HP:0000343	Long philtrum	51604	PIGT	ORPHA:369837
HP:0000343	Long philtrum	7862	BRPF1	OMIM:617333
HP:0000343	Long philtrum	57680	CHD8	OMIM:615032
HP:0000343	Long philtrum	2200	FBN1	OMIM:614185
HP:0000343	Long philtrum	2200	FBN1	ORPHA:969
HP:0000343	Long philtrum	2200	FBN1	OMIM:102370
HP:0000343	Long philtrum	8558	CDK10	OMIM:617694
HP:0000343	Long philtrum	51633	OTUD6B	OMIM:617452
HP:0000343	Long philtrum	51633	OTUD6B	ORPHA:505237
HP:0000343	Long philtrum	55699	IARS2	OMIM:616007
HP:0000343	Long philtrum	27125	AFF4	OMIM:616368
HP:0000343	Long philtrum	27125	AFF4	ORPHA:444077
HP:0000343	Long philtrum	9091	PIGQ	OMIM:618548
HP:0000343	Long philtrum	5590	PRKCZ	ORPHA:1606
HP:0000343	Long philtrum	2563	GABRD	ORPHA:1606
HP:0000343	Long philtrum	23013	SPEN	ORPHA:1606
HP:0000343	Long philtrum	23013	SPEN	OMIM:619312
HP:0000343	Long philtrum	8510	MMP23B	ORPHA:1606
HP:0000343	Long philtrum	7798	LUZP1	ORPHA:1606
HP:0000343	Long philtrum	6497	SKI	ORPHA:1606
HP:0000343	Long philtrum	10630	PDPN	ORPHA:1606
HP:0000343	Long philtrum	3339	HSPG2	ORPHA:1606
HP:0000343	Long philtrum	3339	HSPG2	ORPHA:800
HP:0000343	Long philtrum	10277	UBE4B	ORPHA:1606
HP:0000343	Long philtrum	8514	KCNAB2	ORPHA:1606
HP:0000343	Long philtrum	473	RERE	ORPHA:1606
HP:0000343	Long philtrum	63976	PRDM16	ORPHA:1606
HP:0000343	Long philtrum	54897	CASZ1	ORPHA:1606
HP:0000343	Long philtrum	6134	RPL10	ORPHA:459070
HP:0000343	Long philtrum	6134	RPL10	OMIM:300998
HP:0000343	Long philtrum	79796	ALG9	ORPHA:79328
HP:0000343	Long philtrum	79796	ALG9	OMIM:608776
HP:0000343	Long philtrum	8314	BAP1	OMIM:619762
HP:0000343	Long philtrum	56098	PCDHGC4	OMIM:619880
HP:0000343	Long philtrum	200424	TET3	OMIM:618798
HP:0000343	Long philtrum	9772	TMEM94	OMIM:618316
HP:0000343	Long philtrum	57492	ARID1B	ORPHA:251056
HP:0000343	Long philtrum	57492	ARID1B	OMIM:135900
HP:0000343	Long philtrum	2683	B4GALT1	ORPHA:79332
HP:0000343	Long philtrum	124583	CANT1	OMIM:251450
HP:0000343	Long philtrum	23314	SATB2	ORPHA:576283
HP:0000343	Long philtrum	23314	SATB2	ORPHA:251028
HP:0000343	Long philtrum	23314	SATB2	ORPHA:251019
HP:0000343	Long philtrum	23314	SATB2	OMIM:612313
HP:0000343	Long philtrum	5373	PMM2	ORPHA:79318
HP:0000343	Long philtrum	57724	EPG5	OMIM:242840
HP:0000343	Long philtrum	23556	PIGN	OMIM:614080
HP:0000343	Long philtrum	23556	PIGN	ORPHA:2059
HP:0000343	Long philtrum	23162	MAPK8IP3	OMIM:618443
HP:0000343	Long philtrum	259232	NALCN	OMIM:616266
HP:0000343	Long philtrum	259232	NALCN	ORPHA:2053
HP:0000343	Long philtrum	388662	SLC6A17	OMIM:616269
HP:0000343	Long philtrum	388662	SLC6A17	ORPHA:457212
HP:0000343	Long philtrum	84168	ANTXR1	OMIM:230740
HP:0000343	Long philtrum	84168	ANTXR1	ORPHA:2067
HP:0000343	Long philtrum	2260	FGFR1	OMIM:166250
HP:0000343	Long philtrum	2260	FGFR1	OMIM:190440
HP:0000343	Long philtrum	25836	NIPBL	OMIM:122470
HP:0000343	Long philtrum	25836	NIPBL	ORPHA:199
HP:0000343	Long philtrum	6513	SLC2A1	ORPHA:1942
HP:0000343	Long philtrum	8831	SYNGAP1	ORPHA:1942
HP:0000343	Long philtrum	1173	AP2M1	ORPHA:1942
HP:0000343	Long philtrum	6323	SCN1A	ORPHA:1942
HP:0000343	Long philtrum	340533	NEXMIF	ORPHA:1942
HP:0000343	Long philtrum	1106	CHD2	ORPHA:1942
HP:0000343	Long philtrum	6529	SLC6A1	ORPHA:1942
HP:0000343	Long philtrum	3756	KCNH1	OMIM:611816
HP:0000343	Long philtrum	3756	KCNH1	OMIM:135500
HP:0000343	Long philtrum	3756	KCNH1	ORPHA:420561
HP:0000343	Long philtrum	6595	SMARCA2	OMIM:601358
HP:0000343	Long philtrum	6595	SMARCA2	ORPHA:3051
HP:0000343	Long philtrum	1387	CREBBP	OMIM:618332
HP:0000343	Long philtrum	5881	RAC3	OMIM:618577
HP:0000343	Long philtrum	26173	INTS1	OMIM:618571
HP:0000343	Long philtrum	84188	FAR1	OMIM:616154
HP:0000343	Long philtrum	84188	FAR1	ORPHA:438178
HP:0000343	Long philtrum	4212	MEIS2	ORPHA:261190
HP:0000343	Long philtrum	6878	TAF6	OMIM:617126
HP:0000343	Long philtrum	7227	TRPS1	OMIM:190350
HP:0000343	Long philtrum	7227	TRPS1	OMIM:190351
HP:0000343	Long philtrum	7227	TRPS1	ORPHA:77258
HP:0000343	Long philtrum	7227	TRPS1	ORPHA:502
HP:0000343	Long philtrum	51013	EXOSC1	OMIM:619304
HP:0000343	Long philtrum	55770	EXOC2	OMIM:619306
HP:0000343	Long philtrum	81603	TRIM8	OMIM:619428
HP:0000343	Long philtrum	4921	DDR2	OMIM:271665
HP:0000343	Long philtrum	22827	PUF60	ORPHA:508498
HP:0000343	Long philtrum	22827	PUF60	ORPHA:508488
HP:0000343	Long philtrum	22827	PUF60	OMIM:615583
HP:0000343	Long philtrum	9488	PIGB	OMIM:618580
HP:0000343	Long philtrum	30000	TNPO2	OMIM:619556
HP:0000343	Long philtrum	8573	CASK	OMIM:300749
HP:0000343	Long philtrum	8573	CASK	ORPHA:163937
HP:0000343	Long philtrum	100151683	RNU4ATAC	ORPHA:353298
HP:0000343	Long philtrum	100151683	RNU4ATAC	OMIM:616651
HP:0000343	Long philtrum	4703	NEB	OMIM:256030
HP:0000343	Long philtrum	4703	NEB	ORPHA:171433
HP:0000343	Long philtrum	55869	HDAC8	OMIM:300882
HP:0000343	Long philtrum	55869	HDAC8	ORPHA:199
HP:0000343	Long philtrum	2972	BRF1	ORPHA:444072
HP:0000343	Long philtrum	1349	COX7B	OMIM:300887
HP:0000343	Long philtrum	91754	NEK9	OMIM:617022
HP:0000343	Long philtrum	650	BMP2	ORPHA:261295
HP:0000343	Long philtrum	650	BMP2	OMIM:617877
HP:0000343	Long philtrum	23030	KDM4B	OMIM:619320
HP:0000343	Long philtrum	4081	MAB21L1	OMIM:618479
HP:0000343	Long philtrum	4952	OCRL	ORPHA:534
HP:0000343	Long philtrum	9126	SMC3	OMIM:610759
HP:0000343	Long philtrum	9126	SMC3	ORPHA:199
HP:0000343	Long philtrum	3417	IDH1	ORPHA:99646
HP:0000343	Long philtrum	16	AARS1	OMIM:619691
HP:0000343	Long philtrum	4621	MYH3	OMIM:193700
HP:0000343	Long philtrum	4621	MYH3	ORPHA:2053
HP:0000343	Long philtrum	4621	MYH3	ORPHA:2990
HP:0000343	Long philtrum	153642	ARSK	OMIM:619698
HP:0000343	Long philtrum	23221	RHOBTB2	OMIM:618004
HP:0000343	Long philtrum	4052	LTBP1	OMIM:619451
HP:0000343	Long philtrum	54496	PRMT7	OMIM:617157
HP:0000343	Long philtrum	54496	PRMT7	ORPHA:464288
HP:0000343	Long philtrum	8260	NAA10	OMIM:300855
HP:0000343	Long philtrum	7468	NSD2	OMIM:619695
HP:0000343	Long philtrum	10082	GPC6	OMIM:258315
HP:0000343	Long philtrum	10082	GPC6	ORPHA:93329
HP:0000343	Long philtrum	551	AVP	OMIM:125700
HP:0000343	Long philtrum	5831	PYCR1	OMIM:612940
HP:0000343	Long philtrum	29920	PYCR2	ORPHA:481152
HP:0000343	Long philtrum	29920	PYCR2	OMIM:616420
HP:0000343	Long philtrum	1312	COMT	ORPHA:567
HP:0000343	Long philtrum	221037	JMJD1C	ORPHA:567
HP:0000343	Long philtrum	2812	GP1BB	ORPHA:567
HP:0000343	Long philtrum	6239	RREB1	ORPHA:567
HP:0000343	Long philtrum	6899	TBX1	ORPHA:567
HP:0000343	Long philtrum	7290	HIRA	ORPHA:567
HP:0000343	Long philtrum	9632	SEC24C	ORPHA:567
HP:0000343	Long philtrum	7353	UFD1	ORPHA:567
HP:0000343	Long philtrum	421	ARVCF	ORPHA:567
HP:0000343	Long philtrum	7136	TNNI2	OMIM:601680
HP:0000343	Long philtrum	1009	CDH11	OMIM:211380
HP:0000343	Long philtrum	25942	SIN3A	ORPHA:94065
HP:0000343	Long philtrum	25942	SIN3A	OMIM:613406
HP:0000343	Long philtrum	164	AP1G1	OMIM:619467
HP:0000343	Long philtrum	1822	ATN1	OMIM:618494
HP:0000343	Long philtrum	26040	SETBP1	OMIM:616078
HP:0000343	Long philtrum	5144	PDE4D	ORPHA:439822
HP:0000343	Long philtrum	2475	MTOR	ORPHA:457485
HP:0000343	Long philtrum	2475	MTOR	OMIM:616638
HP:0000343	Long philtrum	1302	COL11A2	ORPHA:166100
HP:0000343	Long philtrum	9244	CRLF1	OMIM:272430
HP:0000343	Long philtrum	9244	CRLF1	ORPHA:1545
HP:0000343	Long philtrum	990	CDC6	OMIM:613805
HP:0000343	Long philtrum	11212	PLPBP	OMIM:617290
HP:0000343	Long philtrum	8812	CCNK	OMIM:618147
HP:0000343	Long philtrum	9851	KIAA0753	OMIM:619479
HP:0000343	Long philtrum	10847	SRCAP	OMIM:619595
HP:0000343	Long philtrum	145173	B3GLCT	OMIM:261540
HP:0000343	Long philtrum	145173	B3GLCT	ORPHA:709
HP:0000343	Long philtrum	2006	ELN	OMIM:123700
HP:0000343	Long philtrum	2006	ELN	ORPHA:904
HP:0000343	Long philtrum	2006	ELN	OMIM:194050
HP:0000343	Long philtrum	526	ATP6V1B2	ORPHA:79500
HP:0000343	Long philtrum	57465	TBC1D24	ORPHA:79500
HP:0000343	Long philtrum	57465	TBC1D24	OMIM:220500
HP:0000343	Long philtrum	2131	EXT1	ORPHA:502
HP:0000343	Long philtrum	7204	TRIO	OMIM:617061
HP:0000343	Long philtrum	7204	TRIO	OMIM:618825
HP:0000343	Long philtrum	7204	TRIO	ORPHA:476126
HP:0000343	Long philtrum	3636	INPPL1	OMIM:258480
HP:0000343	Long philtrum	2571	GAD1	OMIM:619124
HP:0000343	Long philtrum	203068	TUBB	OMIM:156610
HP:0000343	Long philtrum	203068	TUBB	ORPHA:2505
HP:0000343	Long philtrum	8567	MADD	OMIM:619004
HP:0000343	Long philtrum	374879	ZNF699	OMIM:619488
HP:0000343	Long philtrum	440138	ALG11	ORPHA:280071
HP:0000343	Long philtrum	8239	USP9X	OMIM:300968
HP:0000343	Long philtrum	8239	USP9X	ORPHA:480880
HP:0000343	Long philtrum	10651	MTX2	OMIM:619127
HP:0000343	Long philtrum	6472	SHMT2	OMIM:619121
HP:0000343	Long philtrum	29123	ANKRD11	ORPHA:261250
HP:0000343	Long philtrum	29123	ANKRD11	OMIM:148050
HP:0000343	Long philtrum	29123	ANKRD11	ORPHA:2332
HP:0000343	Long philtrum	91875	TTC5	OMIM:619244
HP:0000343	Long philtrum	9373	PLAA	ORPHA:521426
HP:0000343	Long philtrum	9373	PLAA	OMIM:617527
HP:0000343	Long philtrum	93587	TRMT10A	ORPHA:391408
HP:0000343	Long philtrum	84919	PPP1R15B	ORPHA:391408
HP:0000343	Long philtrum	126792	B3GALT6	OMIM:271640
HP:0000343	Long philtrum	126792	B3GALT6	ORPHA:536467
HP:0000343	Long philtrum	5528	PPP2R5D	ORPHA:457279
HP:0000343	Long philtrum	4781	NFIB	OMIM:618286
HP:0000343	Long philtrum	10491	CRTAP	OMIM:610682
HP:0000343	Long philtrum	51594	NBAS	OMIM:614800
HP:0000343	Long philtrum	3295	HSD17B4	OMIM:261515
HP:0000343	Long philtrum	84081	NSRP1	OMIM:620001
HP:0000343	Long philtrum	55901	THSD1	OMIM:620244
HP:0000343	Long philtrum	64131	XYLT1	ORPHA:370930
HP:0000343	Long philtrum	64131	XYLT1	OMIM:615777
HP:0000343	Long philtrum	7474	WNT5A	OMIM:180700
HP:0000343	Long philtrum	7474	WNT5A	ORPHA:3107
HP:0000343	Long philtrum	5727	PTCH1	ORPHA:77301
HP:0000343	Long philtrum	129285	PPP1R21	OMIM:619383
HP:0000343	Long philtrum	2316	FLNA	ORPHA:555877
HP:0000343	Long philtrum	55181	SMG8	OMIM:619268
HP:0000343	Long philtrum	3735	KARS1	OMIM:619147
HP:0000343	Long philtrum	84842	HPDL	OMIM:619026
HP:0000343	Long philtrum	221927	BRAT1	OMIM:618056
HP:0000343	Long philtrum	27445	PCLO	OMIM:608027
HP:0000343	Long philtrum	25886	POC1A	OMIM:614813
HP:0000343	Long philtrum	3480	IGF1R	OMIM:270450
HP:0000343	Long philtrum	158	ADSL	OMIM:103050
HP:0000343	Long philtrum	158	ADSL	ORPHA:46
HP:0000343	Long philtrum	324	APC	ORPHA:261584
HP:0000343	Long philtrum	6309	SC5D	ORPHA:46059
HP:0000343	Long philtrum	6309	SC5D	OMIM:607330
HP:0000343	Long philtrum	5885	RAD21	OMIM:614701
HP:0000343	Long philtrum	5885	RAD21	ORPHA:199
HP:0000343	Long philtrum	84282	RNF135	ORPHA:137634
HP:0000343	Long philtrum	55112	DYNC2I1	ORPHA:93271
HP:0000343	Long philtrum	57560	IFT80	ORPHA:93271
HP:0000343	Long philtrum	57539	WDR35	ORPHA:93271
HP:0000343	Long philtrum	79659	DYNC2H1	ORPHA:93271
HP:0000343	Long philtrum	89891	DYNC2I2	ORPHA:93271
HP:0000343	Long philtrum	374654	KIF7	OMIM:200990
HP:0000343	Long philtrum	58	ACTA1	ORPHA:171433
HP:0000343	Long philtrum	10324	KLHL41	ORPHA:171433
HP:0000343	Long philtrum	7170	TPM3	ORPHA:171433
HP:0000343	Long philtrum	6662	SOX9	OMIM:114290
HP:0000343	Long philtrum	1717	DHCR7	ORPHA:818
HP:0000343	Long philtrum	1717	DHCR7	OMIM:270400
HP:0000343	Long philtrum	25782	RAB3GAP2	OMIM:212720
HP:0000343	Long philtrum	26153	KIF26A	OMIM:620156
HP:0000343	Long philtrum	9382	COG1	OMIM:611209
HP:0000343	Long philtrum	9382	COG1	ORPHA:263508
HP:0000343	Long philtrum	1185	CLCN6	OMIM:619173
HP:0000343	Long philtrum	1146	CHRNG	OMIM:265000
HP:0000343	Long philtrum	1146	CHRNG	ORPHA:2990
HP:0000343	Long philtrum	4001	LMNB1	OMIM:619179
HP:0000343	Long philtrum	170302	ARX	OMIM:300215
HP:0000343	Long philtrum	80204	FBXO11	OMIM:618089
HP:0000343	Long philtrum	8289	ARID1A	OMIM:614607
HP:0000343	Long philtrum	4054	LTBP3	ORPHA:969
HP:0000343	Long philtrum	4054	LTBP3	OMIM:617809
HP:0000343	Long philtrum	8546	AP3B1	OMIM:608233
HP:0000343	Long philtrum	6598	SMARCB1	OMIM:614608
HP:0000343	Long philtrum	6597	SMARCA4	OMIM:614609
HP:0000343	Long philtrum	64919	BCL11B	OMIM:618092
HP:0000343	Long philtrum	6885	MAP3K7	OMIM:157800
HP:0000343	Long philtrum	55148	UBR7	OMIM:619189
HP:0000343	Long philtrum	1954	MEGF8	OMIM:614976
HP:0000343	Long philtrum	4338	MOCS2	OMIM:252160
HP:0000343	Long philtrum	649	BMP1	OMIM:614856
HP:0000343	Long philtrum	124512	METTL23	OMIM:615942
HP:0000343	Long philtrum	79053	ALG8	OMIM:608104
HP:0000343	Long philtrum	2697	GJA1	OMIM:257850
HP:0000343	Long philtrum	23265	EXOC7	OMIM:619072
HP:0000343	Long philtrum	4593	MUSK	OMIM:208150
HP:0000343	Long philtrum	51660	MPC1	OMIM:614741
HP:0000343	Long philtrum	1857	DVL3	ORPHA:3107
HP:0000343	Long philtrum	1857	DVL3	OMIM:616894
HP:0000343	Long philtrum	2535	FZD2	ORPHA:3107
HP:0000343	Long philtrum	2535	FZD2	OMIM:164745
HP:0000343	Long philtrum	2535	FZD2	ORPHA:93328
HP:0000343	Long philtrum	6804	STX1A	ORPHA:904
HP:0000343	Long philtrum	7461	CLIP2	ORPHA:904
HP:0000343	Long philtrum	84277	DNAJC30	ORPHA:904
HP:0000343	Long philtrum	8468	FKBP6	ORPHA:904
HP:0000343	Long philtrum	5982	RFC2	ORPHA:904
HP:0000343	Long philtrum	2969	GTF2I	ORPHA:904
HP:0000343	Long philtrum	3984	LIMK1	ORPHA:904
HP:0000343	Long philtrum	9569	GTF2IRD1	ORPHA:904
HP:0000343	Long philtrum	155382	VPS37D	ORPHA:904
HP:0000343	Long philtrum	155368	METTL27	ORPHA:904
HP:0000343	Long philtrum	114049	BUD23	ORPHA:904
HP:0000343	Long philtrum	7458	EIF4H	ORPHA:904
HP:0000343	Long philtrum	84163	GTF2IRD2	ORPHA:904
HP:0000343	Long philtrum	9275	BCL7B	ORPHA:904
HP:0000343	Long philtrum	26608	TBL2	ORPHA:904
HP:0000343	Long philtrum	653361	NCF1	ORPHA:904
HP:0000343	Long philtrum	135886	TMEM270	ORPHA:904
HP:0000343	Long philtrum	51085	MLXIPL	ORPHA:904
HP:0000343	Long philtrum	51085	MLXIPL	OMIM:194050
HP:0000343	Long philtrum	9031	BAZ1B	ORPHA:904
HP:0000343	Long philtrum	23345	SYNE1	ORPHA:319332
HP:0000343	Long philtrum	9719	ADAMTSL2	OMIM:231050
HP:0000343	Long philtrum	11128	POLR3A	OMIM:264090
HP:0000343	Long philtrum	55719	SLF2	OMIM:620184
HP:0000343	Long philtrum	283209	PGM2L1	OMIM:620191
HP:0000343	Long philtrum	4094	MAF	ORPHA:1272
HP:0000343	Long philtrum	4094	MAF	OMIM:601088
HP:0000343	Long philtrum	9321	TRIP11	OMIM:184260
HP:0000343	Long philtrum	9321	TRIP11	ORPHA:93299
HP:0000343	Long philtrum	5594	MAPK1	OMIM:619087
HP:0000343	Long philtrum	23522	KAT6B	ORPHA:85201
HP:0000343	Long philtrum	55670	PEX26	OMIM:614872
HP:0000343	Long philtrum	5591	PRKDC	OMIM:615966
HP:0000343	Long philtrum	388015	RTL1	ORPHA:96334
HP:0000343	Long philtrum	8788	DLK1	ORPHA:96334
HP:0000343	Long philtrum	55384	MEG3	ORPHA:96334
HP:0000343	Long philtrum	10430	TMEM147	OMIM:620075
HP:0000343	Long philtrum	63895	PIEZO2	OMIM:248700
HP:0000343	Long philtrum	81031	SLC2A10	OMIM:208050
HP:0000343	Long philtrum	9652	SKIC3	OMIM:222470
HP:0000343	Long philtrum	2146	EZH2	OMIM:277590
HP:0000343	Long philtrum	2146	EZH2	ORPHA:3447
HP:0000343	Long philtrum	80324	PUS1	ORPHA:2598
HP:0000343	Long philtrum	51067	YARS2	ORPHA:2598
HP:0000343	Long philtrum	701	BUB1B	OMIM:257300
HP:0000343	Long philtrum	64324	NSD1	ORPHA:3447
HP:0000343	Long philtrum	8726	EED	ORPHA:3447
HP:0000343	Long philtrum	23512	SUZ12	ORPHA:3447
HP:0000343	Long philtrum	28962	OSTM1	OMIM:259720
HP:0000343	Long philtrum	55023	PHIP	ORPHA:589905
HP:0000343	Long philtrum	55023	PHIP	OMIM:617991
HP:0000343	Long philtrum	2702	GJA5	OMIM:612474
HP:0000343	Long philtrum	2703	GJA8	OMIM:612474
HP:0000343	Long philtrum	867	CBL	OMIM:613563
HP:0000343	Long philtrum	2245	FGD1	ORPHA:915
HP:0000343	Long philtrum	10664	CTCF	OMIM:615502
HP:0000343	Long philtrum	10664	CTCF	ORPHA:363611
HP:0000343	Long philtrum	10075	HUWE1	OMIM:309590
HP:0000343	Long philtrum	55906	ZC4H2	OMIM:301041
HP:0000343	Long philtrum	55906	ZC4H2	OMIM:314580
HP:0000343	Long philtrum	23394	ADNP	OMIM:615873
HP:0000343	Long philtrum	10586	MAB21L2	OMIM:615877
HP:0000343	Long philtrum	85358	SHANK3	OMIM:606232
HP:0000343	Long philtrum	79650	USB1	OMIM:604173
HP:0000343	Long philtrum	4854	NOTCH3	OMIM:130720
HP:0000343	Long philtrum	5160	PDHA1	OMIM:312170
HP:0000343	Long philtrum	5447	POR	OMIM:207410
HP:0000343	Long philtrum	2263	FGFR2	OMIM:207410
HP:0000343	Long philtrum	169792	GLIS3	OMIM:610199
HP:0000343	Long philtrum	998	CDC42	OMIM:616737
HP:0000343	Long philtrum	998	CDC42	ORPHA:487796
HP:0000343	Long philtrum	3767	KCNJ11	ORPHA:79134
HP:0000343	Long philtrum	79731	NARS2	ORPHA:79134
HP:0000343	Long philtrum	6833	ABCC8	ORPHA:79134
HP:0000343	Long philtrum	2720	GLB1	ORPHA:79255
HP:0000343	Long philtrum	5053	PAH	ORPHA:2209
HP:0000343	Long philtrum	389827	MYMK	ORPHA:1358
HP:0000343	Long philtrum	101929726	MYMX	ORPHA:1358
HP:0000343	Long philtrum	101929726	MYMX	OMIM:619941
HP:0000343	Long philtrum	84679	SLC9A7	OMIM:301024
HP:0000343	Long philtrum	10735	STAG2	OMIM:301022
HP:0000343	Long philtrum	10265	IRX5	OMIM:611174
HP:0000343	Long philtrum	10352	WARS2	OMIM:617710
HP:0000343	Long philtrum	134701	RIPPLY2	ORPHA:2311
HP:0000343	Long philtrum	10683	DLL3	ORPHA:2311
HP:0000343	Long philtrum	3955	LFNG	ORPHA:2311
HP:0000343	Long philtrum	84667	HES7	ORPHA:2311
HP:0000343	Long philtrum	145873	MESP2	ORPHA:2311
HP:0000343	Long philtrum	5604	MAP2K1	ORPHA:1340
HP:0000343	Long philtrum	5605	MAP2K2	ORPHA:1340
HP:0000343	Long philtrum	3845	KRAS	ORPHA:1340
HP:0000343	Long philtrum	673	BRAF	ORPHA:1340
HP:0000343	Long philtrum	2248	FGF3	ORPHA:2791
HP:0000343	Long philtrum	1000	CDH2	OMIM:618929
HP:0000343	Long philtrum	64093	SMOC1	ORPHA:1106
HP:0000343	Long philtrum	5745	PTH1R	ORPHA:50945
HP:0000343	Long philtrum	128637	TBC1D20	OMIM:615663
HP:0000343	Long philtrum	2313	FLI1	ORPHA:2308
HP:0000343	Long philtrum	60	ACTB	OMIM:243310
HP:0000343	Long philtrum	60	ACTB	ORPHA:2995
HP:0000343	Long philtrum	23476	BRD4	ORPHA:199
HP:0000343	Long philtrum	8243	SMC1A	ORPHA:199
HP:0000343	Long philtrum	6628	SNRPB	OMIM:117650
HP:0000343	Long philtrum	71	ACTG1	OMIM:614583
HP:0000343	Long philtrum	71	ACTG1	ORPHA:2995
HP:0000343	Long philtrum	10815	CPLX1	OMIM:617976
HP:0000343	Long philtrum	1213	CLTC	OMIM:617854
HP:0000343	Long philtrum	1861	TOR1A	OMIM:618947
HP:0000343	Long philtrum	4337	MOCS1	OMIM:252150
HP:0000343	Long philtrum	29957	SLC25A24	OMIM:612289
HP:0000343	Long philtrum	4659	PPP1R12A	OMIM:618820
HP:0000343	Long philtrum	91461	PKDCC	OMIM:618821
HP:0000343	Long philtrum	4329	ALDH6A1	OMIM:614105
HP:0000343	Long philtrum	4893	NRAS	OMIM:137550
HP:0000343	Long philtrum	3265	HRAS	OMIM:137550
HP:0000343	Long philtrum	55617	TASP1	OMIM:618950
HP:0000343	Long philtrum	28957	MRPS28	OMIM:618958
HP:0000343	Long philtrum	3832	KIF11	ORPHA:2526
HP:0000343	Long philtrum	3832	KIF11	OMIM:152950
HP:0000343	Long philtrum	5500	PPP1CB	OMIM:617506
HP:0000343	Long philtrum	100506658	OCLN	OMIM:251290
HP:0000343	Long philtrum	113246	C12orf57	OMIM:218340
HP:0000343	Long philtrum	6591	SNAI2	ORPHA:2884
HP:0000343	Long philtrum	3815	KIT	ORPHA:2884
HP:0000343	Long philtrum	9320	TRIP12	OMIM:617752
HP:0000343	Long philtrum	523	ATP6V1A	ORPHA:357074
HP:0000343	Long philtrum	529	ATP6V1E1	ORPHA:357074
HP:0000343	Long philtrum	529	ATP6V1E1	OMIM:617402
HP:0000343	Long philtrum	10020	GNE	OMIM:269921
HP:0000343	Long philtrum	84700	MYO18B	OMIM:616549
HP:0000343	Long philtrum	10225	CD96	ORPHA:1308
HP:0000343	Long philtrum	23529	CLCF1	ORPHA:1545
HP:0000343	Long philtrum	26229	B3GAT3	OMIM:245600
HP:0000343	Long philtrum	1968	EIF2S3	OMIM:300148
HP:0000343	Long philtrum	23404	EXOSC2	OMIM:617763
HP:0000343	Long philtrum	92935	MARS2	OMIM:616430
HP:0000343	Long philtrum	22861	NLRP1	OMIM:615225
HP:0000343	Long philtrum	4281	MID1	ORPHA:2745
HP:0000343	Long philtrum	9181	ARHGEF2	OMIM:617523
HP:0000343	Long philtrum	10982	MAPRE2	ORPHA:2505
HP:0000343	Long philtrum	4654	MYOD1	OMIM:618975
HP:0000348	High forehead	3476	IGBP1	OMIM:300472
HP:0000348	High forehead	3476	IGBP1	ORPHA:52055
HP:0000348	High forehead	8450	CUL4B	OMIM:300354
HP:0000348	High forehead	324	APC	ORPHA:261584
HP:0000348	High forehead	894	CCND2	ORPHA:83473
HP:0000348	High forehead	5296	PIK3R2	ORPHA:83473
HP:0000348	High forehead	10000	AKT3	ORPHA:83473
HP:0000348	High forehead	55503	TRPV6	OMIM:618188
HP:0000348	High forehead	23334	SZT2	OMIM:615476
HP:0000348	High forehead	23334	SZT2	ORPHA:442835
HP:0000348	High forehead	4010	LMX1B	ORPHA:2614
HP:0000348	High forehead	10054	UBA2	OMIM:619959
HP:0000348	High forehead	2263	FGFR2	OMIM:149730
HP:0000348	High forehead	2263	FGFR2	ORPHA:93260
HP:0000348	High forehead	2263	FGFR2	ORPHA:93258
HP:0000348	High forehead	2263	FGFR2	ORPHA:93259
HP:0000348	High forehead	2263	FGFR2	OMIM:101400
HP:0000348	High forehead	2263	FGFR2	ORPHA:168624
HP:0000348	High forehead	2263	FGFR2	OMIM:101200
HP:0000348	High forehead	2263	FGFR2	ORPHA:794
HP:0000348	High forehead	2263	FGFR2	ORPHA:207
HP:0000348	High forehead	57539	WDR35	OMIM:613610
HP:0000348	High forehead	538	ATP7A	OMIM:304150
HP:0000348	High forehead	538	ATP7A	ORPHA:198
HP:0000348	High forehead	5830	PEX5	OMIM:214110
HP:0000348	High forehead	5830	PEX5	OMIM:202370
HP:0000348	High forehead	5830	PEX5	ORPHA:44
HP:0000348	High forehead	5830	PEX5	ORPHA:912
HP:0000348	High forehead	8443	GNPAT	OMIM:222765
HP:0000348	High forehead	116931	MED12L	OMIM:618872
HP:0000348	High forehead	9578	CDC42BPB	OMIM:619841
HP:0000348	High forehead	3020	H3-3A	OMIM:619720
HP:0000348	High forehead	2737	GLI3	ORPHA:380
HP:0000348	High forehead	2737	GLI3	OMIM:175700
HP:0000348	High forehead	3021	H3-3B	OMIM:619721
HP:0000348	High forehead	51741	WWOX	OMIM:616211
HP:0000348	High forehead	51741	WWOX	ORPHA:442835
HP:0000348	High forehead	1855	DVL1	OMIM:616331
HP:0000348	High forehead	51111	KMT5B	OMIM:617788
HP:0000348	High forehead	129563	DIS3L2	ORPHA:2849
HP:0000348	High forehead	2132	EXT2	ORPHA:466926
HP:0000348	High forehead	6662	SOX9	OMIM:114290
HP:0000348	High forehead	79158	GNPTAB	OMIM:252500
HP:0000348	High forehead	5189	PEX1	OMIM:214100
HP:0000348	High forehead	5189	PEX1	ORPHA:44
HP:0000348	High forehead	5189	PEX1	ORPHA:912
HP:0000348	High forehead	2261	FGFR3	ORPHA:93262
HP:0000348	High forehead	2261	FGFR3	ORPHA:794
HP:0000348	High forehead	170302	ARX	OMIM:300215
HP:0000348	High forehead	2590	GALNT2	OMIM:618885
HP:0000348	High forehead	64324	NSD1	OMIM:117550
HP:0000348	High forehead	818	CAMK2G	OMIM:618522
HP:0000348	High forehead	54453	RIN2	OMIM:613075
HP:0000348	High forehead	9739	SETD1A	OMIM:619056
HP:0000348	High forehead	80204	FBXO11	OMIM:618089
HP:0000348	High forehead	64359	NXN	OMIM:618529
HP:0000348	High forehead	9968	MED12	ORPHA:93932
HP:0000348	High forehead	9968	MED12	ORPHA:776
HP:0000348	High forehead	81857	MED25	ORPHA:464738
HP:0000348	High forehead	10015	PDCD6IP	OMIM:620047
HP:0000348	High forehead	2260	FGFR1	ORPHA:93258
HP:0000348	High forehead	2697	GJA1	ORPHA:2710
HP:0000348	High forehead	2626	GATA4	ORPHA:251071
HP:0000348	High forehead	222663	SCUBE3	OMIM:619184
HP:0000348	High forehead	9896	FIG4	ORPHA:3472
HP:0000348	High forehead	55697	VAC14	ORPHA:3472
HP:0000348	High forehead	652	BMP4	OMIM:607932
HP:0000348	High forehead	10815	CPLX1	ORPHA:280
HP:0000348	High forehead	10815	CPLX1	OMIM:194190
HP:0000348	High forehead	54872	PIGG	ORPHA:280
HP:0000348	High forehead	7469	NELFA	ORPHA:280
HP:0000348	High forehead	1487	CTBP1	ORPHA:280
HP:0000348	High forehead	1487	CTBP1	OMIM:194190
HP:0000348	High forehead	3954	LETM1	ORPHA:280
HP:0000348	High forehead	3954	LETM1	OMIM:194190
HP:0000348	High forehead	7468	NSD2	ORPHA:280
HP:0000348	High forehead	7468	NSD2	OMIM:194190
HP:0000348	High forehead	7468	NSD2	OMIM:619695
HP:0000348	High forehead	9184	BUB3	ORPHA:1052
HP:0000348	High forehead	699	BUB1	ORPHA:1052
HP:0000348	High forehead	9702	CEP57	ORPHA:1052
HP:0000348	High forehead	9319	TRIP13	ORPHA:1052
HP:0000348	High forehead	701	BUB1B	ORPHA:1052
HP:0000348	High forehead	701	BUB1B	OMIM:257300
HP:0000348	High forehead	1500	CTNND1	OMIM:617681
HP:0000348	High forehead	2688	GH1	OMIM:262400
HP:0000348	High forehead	22884	WDR37	OMIM:618652
HP:0000348	High forehead	4297	KMT2A	ORPHA:319182
HP:0000348	High forehead	833	CARS1	OMIM:618891
HP:0000348	High forehead	5813	PURA	ORPHA:438216
HP:0000348	High forehead	60	ACTB	OMIM:607371
HP:0000348	High forehead	60	ACTB	ORPHA:79107
HP:0000348	High forehead	1009	CDH11	ORPHA:1299
HP:0000348	High forehead	7291	TWIST1	OMIM:101400
HP:0000348	High forehead	7291	TWIST1	ORPHA:794
HP:0000348	High forehead	23314	SATB2	OMIM:612313
HP:0000348	High forehead	23314	SATB2	ORPHA:251028
HP:0000348	High forehead	23314	SATB2	ORPHA:251019
HP:0000348	High forehead	2783	GNB2	OMIM:619503
HP:0000348	High forehead	3737	KCNA2	ORPHA:442835
HP:0000348	High forehead	1759	DNM1	ORPHA:442835
HP:0000348	High forehead	8120	AP3B2	ORPHA:442835
HP:0000348	High forehead	523	ATP6V1A	ORPHA:442835
HP:0000348	High forehead	10991	SLC38A3	ORPHA:442835
HP:0000348	High forehead	51343	FZR1	ORPHA:442835
HP:0000348	High forehead	22906	TRAK1	ORPHA:442835
HP:0000348	High forehead	2566	GABRG2	ORPHA:442835
HP:0000348	High forehead	1917	EEF1A2	ORPHA:442835
HP:0000348	High forehead	2561	GABRB2	ORPHA:442835
HP:0000348	High forehead	8831	SYNGAP1	ORPHA:442835
HP:0000348	High forehead	7532	YWHAG	ORPHA:442835
HP:0000348	High forehead	79876	UBA5	ORPHA:442835
HP:0000348	High forehead	6328	SCN3A	ORPHA:442835
HP:0000348	High forehead	2558	GABRA5	ORPHA:442835
HP:0000348	High forehead	781	CACNA2D1	ORPHA:442835
HP:0000348	High forehead	2906	GRIN2D	ORPHA:442835
HP:0000348	High forehead	116150	NUS1	ORPHA:442835
HP:0000348	High forehead	10659	CELF2	ORPHA:442835
HP:0000348	High forehead	774	CACNA1B	ORPHA:442835
HP:0000348	High forehead	1213	CLTC	ORPHA:442835
HP:0000348	High forehead	51412	ACTL6B	ORPHA:442835
HP:0000348	High forehead	348980	HCN1	ORPHA:442835
HP:0000348	High forehead	6506	SLC1A2	ORPHA:442835
HP:0000348	High forehead	8867	SYNJ1	ORPHA:442835
HP:0000348	High forehead	2258	FGF13	ORPHA:442835
HP:0000348	High forehead	477	ATP1A2	ORPHA:442835
HP:0000348	High forehead	477	ATP1A2	ORPHA:2131
HP:0000348	High forehead	3745	KCNB1	ORPHA:442835
HP:0000348	High forehead	284111	SLC13A5	ORPHA:442835
HP:0000348	High forehead	25977	NECAP1	ORPHA:442835
HP:0000348	High forehead	16	AARS1	ORPHA:442835
HP:0000348	High forehead	6334	SCN8A	ORPHA:442835
HP:0000348	High forehead	22866	CNKSR2	ORPHA:442835
HP:0000348	High forehead	9568	GABBR2	ORPHA:442835
HP:0000348	High forehead	2555	GABRA2	ORPHA:442835
HP:0000348	High forehead	55152	DALRD3	ORPHA:442835
HP:0000348	High forehead	773	CACNA1A	ORPHA:442835
HP:0000348	High forehead	773	CACNA1A	ORPHA:2131
HP:0000348	High forehead	26999	CYFIP2	ORPHA:442835
HP:0000348	High forehead	4915	NTRK2	ORPHA:442835
HP:0000348	High forehead	25973	PARS2	ORPHA:442835
HP:0000348	High forehead	23097	CDK19	ORPHA:442835
HP:0000348	High forehead	64801	ARV1	ORPHA:442835
HP:0000348	High forehead	79947	DHDDS	ORPHA:442835
HP:0000348	High forehead	2257	FGF12	ORPHA:442835
HP:0000348	High forehead	5530	PPP3CA	ORPHA:442835
HP:0000348	High forehead	478	ATP1A3	ORPHA:442835
HP:0000348	High forehead	478	ATP1A3	ORPHA:2131
HP:0000348	High forehead	25942	SIN3A	OMIM:613406
HP:0000348	High forehead	5193	PEX12	OMIM:614859
HP:0000348	High forehead	5193	PEX12	ORPHA:44
HP:0000348	High forehead	5193	PEX12	ORPHA:912
HP:0000348	High forehead	53834	FGFRL1	OMIM:194190
HP:0000348	High forehead	26040	SETBP1	OMIM:269150
HP:0000348	High forehead	1174	AP1S1	OMIM:609313
HP:0000348	High forehead	3192	HNRNPU	ORPHA:238769
HP:0000348	High forehead	4953	ODC1	OMIM:619075
HP:0000348	High forehead	59341	TRPV4	OMIM:184252
HP:0000348	High forehead	59341	TRPV4	OMIM:156530
HP:0000348	High forehead	59341	TRPV4	ORPHA:2635
HP:0000348	High forehead	253738	EBF3	OMIM:617330
HP:0000348	High forehead	3590	IL11RA	OMIM:614188
HP:0000348	High forehead	51604	PIGT	OMIM:615398
HP:0000348	High forehead	51604	PIGT	ORPHA:369837
HP:0000348	High forehead	54914	FOCAD	OMIM:619991
HP:0000348	High forehead	5048	PAFAH1B1	ORPHA:217385
HP:0000348	High forehead	5048	PAFAH1B1	ORPHA:531
HP:0000348	High forehead	7531	YWHAE	ORPHA:217385
HP:0000348	High forehead	7531	YWHAE	ORPHA:531
HP:0000348	High forehead	5290	PIK3CA	ORPHA:60040
HP:0000348	High forehead	5828	PEX2	OMIM:614866
HP:0000348	High forehead	5828	PEX2	ORPHA:44
HP:0000348	High forehead	5828	PEX2	ORPHA:912
HP:0000348	High forehead	6804	STX1A	ORPHA:904
HP:0000348	High forehead	7461	CLIP2	ORPHA:904
HP:0000348	High forehead	84277	DNAJC30	ORPHA:904
HP:0000348	High forehead	8468	FKBP6	ORPHA:904
HP:0000348	High forehead	5982	RFC2	ORPHA:904
HP:0000348	High forehead	2969	GTF2I	ORPHA:904
HP:0000348	High forehead	3984	LIMK1	ORPHA:904
HP:0000348	High forehead	9569	GTF2IRD1	ORPHA:904
HP:0000348	High forehead	155382	VPS37D	ORPHA:904
HP:0000348	High forehead	155368	METTL27	ORPHA:904
HP:0000348	High forehead	114049	BUD23	ORPHA:904
HP:0000348	High forehead	7458	EIF4H	ORPHA:904
HP:0000348	High forehead	84163	GTF2IRD2	ORPHA:904
HP:0000348	High forehead	9275	BCL7B	ORPHA:904
HP:0000348	High forehead	26608	TBL2	ORPHA:904
HP:0000348	High forehead	653361	NCF1	ORPHA:904
HP:0000348	High forehead	135886	TMEM270	ORPHA:904
HP:0000348	High forehead	51085	MLXIPL	ORPHA:904
HP:0000348	High forehead	9031	BAZ1B	ORPHA:904
HP:0000348	High forehead	2006	ELN	ORPHA:904
HP:0000348	High forehead	285175	UNC80	OMIM:616801
HP:0000348	High forehead	6507	SLC1A3	ORPHA:2131
HP:0000348	High forehead	6899	TBX1	ORPHA:1727
HP:0000348	High forehead	8626	TP63	OMIM:129400
HP:0000348	High forehead	4784	NFIX	ORPHA:420179
HP:0000348	High forehead	4784	NFIX	OMIM:614753
HP:0000348	High forehead	4784	NFIX	OMIM:602535
HP:0000348	High forehead	8085	KMT2D	OMIM:620186
HP:0000348	High forehead	51611	DPH5	OMIM:620070
HP:0000348	High forehead	79718	TBL1XR1	OMIM:602342
HP:0000348	High forehead	79718	TBL1XR1	ORPHA:487825
HP:0000348	High forehead	79228	THOC6	ORPHA:363444
HP:0000348	High forehead	79228	THOC6	OMIM:613680
HP:0000348	High forehead	55210	ATAD3A	ORPHA:496790
HP:0000348	High forehead	55210	ATAD3A	OMIM:617183
HP:0000348	High forehead	8905	AP1S2	ORPHA:85329
HP:0000348	High forehead	5605	MAP2K2	OMIM:615280
HP:0000348	High forehead	5605	MAP2K2	ORPHA:1340
HP:0000348	High forehead	4094	MAF	ORPHA:1272
HP:0000348	High forehead	4094	MAF	OMIM:601088
HP:0000348	High forehead	5594	MAPK1	OMIM:619087
HP:0000348	High forehead	54928	BPNT2	OMIM:614078
HP:0000348	High forehead	51098	IFT52	OMIM:617102
HP:0000348	High forehead	113179	ADAT3	OMIM:615286
HP:0000348	High forehead	113179	ADAT3	ORPHA:363528
HP:0000348	High forehead	6942	TCF20	OMIM:618430
HP:0000348	High forehead	440138	ALG11	OMIM:613661
HP:0000348	High forehead	440138	ALG11	ORPHA:280071
HP:0000348	High forehead	55670	PEX26	OMIM:614872
HP:0000348	High forehead	55670	PEX26	ORPHA:44
HP:0000348	High forehead	55670	PEX26	ORPHA:912
HP:0000348	High forehead	200424	TET3	OMIM:618798
HP:0000348	High forehead	79971	WLS	OMIM:619648
HP:0000348	High forehead	6901	TAFAZZIN	OMIM:302060
HP:0000348	High forehead	3187	HNRNPH1	OMIM:620083
HP:0000348	High forehead	3930	LBR	OMIM:215140
HP:0000348	High forehead	4208	MEF2C	ORPHA:228384
HP:0000348	High forehead	5824	PEX19	ORPHA:44
HP:0000348	High forehead	5824	PEX19	ORPHA:912
HP:0000348	High forehead	8504	PEX3	ORPHA:44
HP:0000348	High forehead	8504	PEX3	OMIM:614882
HP:0000348	High forehead	8504	PEX3	ORPHA:912
HP:0000348	High forehead	8504	PEX3	OMIM:617370
HP:0000348	High forehead	9409	PEX16	ORPHA:44
HP:0000348	High forehead	9409	PEX16	ORPHA:912
HP:0000348	High forehead	5190	PEX6	ORPHA:44
HP:0000348	High forehead	5190	PEX6	ORPHA:912
HP:0000348	High forehead	8799	PEX11B	ORPHA:44
HP:0000348	High forehead	8799	PEX11B	ORPHA:912
HP:0000348	High forehead	5194	PEX13	ORPHA:44
HP:0000348	High forehead	5194	PEX13	OMIM:614883
HP:0000348	High forehead	5194	PEX13	ORPHA:912
HP:0000348	High forehead	5195	PEX14	ORPHA:44
HP:0000348	High forehead	5195	PEX14	OMIM:614887
HP:0000348	High forehead	5195	PEX14	ORPHA:912
HP:0000348	High forehead	5192	PEX10	ORPHA:44
HP:0000348	High forehead	5192	PEX10	ORPHA:912
HP:0000348	High forehead	4123	MAN2C1	OMIM:619775
HP:0000348	High forehead	55835	CENPJ	OMIM:613676
HP:0000348	High forehead	9939	RBM8A	ORPHA:3320
HP:0000348	High forehead	84876	ORAI1	ORPHA:3204
HP:0000348	High forehead	6786	STIM1	ORPHA:3204
HP:0000348	High forehead	7546	ZIC2	OMIM:609637
HP:0000348	High forehead	55023	PHIP	ORPHA:589905
HP:0000348	High forehead	55023	PHIP	OMIM:617991
HP:0000348	High forehead	9742	IFT140	OMIM:266920
HP:0000348	High forehead	29072	SETD2	OMIM:616831
HP:0000348	High forehead	22907	DHX30	OMIM:617804
HP:0000348	High forehead	51013	EXOSC1	OMIM:619304
HP:0000348	High forehead	51053	GMNN	OMIM:616835
HP:0000348	High forehead	7319	UBE2A	ORPHA:163956
HP:0000348	High forehead	10664	CTCF	OMIM:615502
HP:0000348	High forehead	10664	CTCF	ORPHA:363611
HP:0000348	High forehead	2200	FBN1	ORPHA:2462
HP:0000348	High forehead	6497	SKI	ORPHA:2462
HP:0000348	High forehead	6857	SYT1	OMIM:618218
HP:0000348	High forehead	196528	ARID2	OMIM:617808
HP:0000348	High forehead	10075	HUWE1	OMIM:309590
HP:0000348	High forehead	4088	SMAD3	ORPHA:284984
HP:0000348	High forehead	55906	ZC4H2	OMIM:301041
HP:0000348	High forehead	10785	WDR4	OMIM:618346
HP:0000348	High forehead	92335	STRADA	ORPHA:500533
HP:0000348	High forehead	65062	TMEM237	OMIM:614424
HP:0000348	High forehead	6323	SCN1A	OMIM:619317
HP:0000348	High forehead	7545	ZIC1	OMIM:616602
HP:0000348	High forehead	7545	ZIC1	OMIM:618736
HP:0000348	High forehead	128869	PIGU	OMIM:618590
HP:0000348	High forehead	1349	COX7B	OMIM:300887
HP:0000348	High forehead	55209	SETD5	OMIM:615761
HP:0000348	High forehead	4893	NRAS	OMIM:613224
HP:0000348	High forehead	4893	NRAS	ORPHA:648
HP:0000348	High forehead	6905	TBCE	ORPHA:2323
HP:0000348	High forehead	3097	HIVEP2	OMIM:616977
HP:0000348	High forehead	999	CDH1	OMIM:119580
HP:0000348	High forehead	23729	SHPK	ORPHA:440713
HP:0000348	High forehead	51114	ZDHHC9	ORPHA:776
HP:0000348	High forehead	65109	UPF3B	ORPHA:776
HP:0000348	High forehead	526	ATP6V1B2	ORPHA:79499
HP:0000348	High forehead	526	ATP6V1B2	OMIM:124480
HP:0000348	High forehead	3039	HBA1	ORPHA:98791
HP:0000348	High forehead	3040	HBA2	ORPHA:98791
HP:0000348	High forehead	57551	TAOK1	OMIM:619575
HP:0000348	High forehead	2530	FUT8	OMIM:618005
HP:0000348	High forehead	537	ATP6AP1	OMIM:300972
HP:0000348	High forehead	63035	BCORL1	OMIM:301029
HP:0000348	High forehead	3756	KCNH1	OMIM:135500
HP:0000348	High forehead	8260	NAA10	OMIM:300855
HP:0000348	High forehead	5604	MAP2K1	ORPHA:1340
HP:0000348	High forehead	3845	KRAS	ORPHA:1340
HP:0000348	High forehead	3845	KRAS	ORPHA:648
HP:0000348	High forehead	673	BRAF	ORPHA:1340
HP:0000348	High forehead	2077	ERF	ORPHA:207
HP:0000348	High forehead	55764	IFT122	OMIM:218330
HP:0000348	High forehead	6792	CDKL5	ORPHA:505652
HP:0000348	High forehead	27031	NPHP3	OMIM:267010
HP:0000348	High forehead	22808	MRAS	OMIM:618499
HP:0000348	High forehead	22808	MRAS	ORPHA:648
HP:0000348	High forehead	9758	FRMPD4	OMIM:300983
HP:0000348	High forehead	1822	ATN1	OMIM:618494
HP:0000348	High forehead	2475	MTOR	OMIM:616638
HP:0000348	High forehead	6304	SATB1	OMIM:619229
HP:0000348	High forehead	57187	THOC2	ORPHA:457240
HP:0000348	High forehead	9419	CRIPT	OMIM:615789
HP:0000348	High forehead	2313	FLI1	ORPHA:2308
HP:0000348	High forehead	4758	NEU1	ORPHA:93400
HP:0000348	High forehead	4041	LRP5	ORPHA:178377
HP:0000348	High forehead	7737	RNF113A	OMIM:300953
HP:0000348	High forehead	6711	SPTBN1	OMIM:619475
HP:0000348	High forehead	79005	SCNM1	OMIM:620107
HP:0000348	High forehead	4329	ALDH6A1	OMIM:614105
HP:0000348	High forehead	285590	SH3PXD2B	ORPHA:137834
HP:0000348	High forehead	4534	MTM1	OMIM:310400
HP:0000348	High forehead	5293	PIK3CD	ORPHA:221139
HP:0000348	High forehead	90417	KNSTRN	ORPHA:221139
HP:0000348	High forehead	11198	SUPT16H	OMIM:619480
HP:0000348	High forehead	7204	TRIO	OMIM:617061
HP:0000348	High forehead	7204	TRIO	ORPHA:476126
HP:0000348	High forehead	3636	INPPL1	OMIM:258480
HP:0000348	High forehead	8567	MADD	OMIM:619004
HP:0000348	High forehead	8567	MADD	OMIM:619005
HP:0000348	High forehead	10651	MTX2	OMIM:619127
HP:0000348	High forehead	1857	DVL3	OMIM:616894
HP:0000348	High forehead	29123	ANKRD11	ORPHA:261250
HP:0000348	High forehead	4190	MDH1	OMIM:618959
HP:0000348	High forehead	5500	PPP1CB	OMIM:617506
HP:0000348	High forehead	118924	FRA10AC1	OMIM:620113
HP:0000348	High forehead	1376	CPT2	OMIM:608836
HP:0000348	High forehead	3090	HIC1	ORPHA:531
HP:0000348	High forehead	9897	WASHC5	OMIM:220210
HP:0000348	High forehead	7518	XRCC4	OMIM:616541
HP:0000348	High forehead	4781	NFIB	OMIM:618286
HP:0000348	High forehead	25974	MMACHC	ORPHA:79282
HP:0000348	High forehead	25974	MMACHC	OMIM:277400
HP:0000348	High forehead	284058	KANSL1	OMIM:610443
HP:0000348	High forehead	3295	HSD17B4	OMIM:261515
HP:0000348	High forehead	5430	POLR2A	OMIM:618603
HP:0000348	High forehead	22800	RRAS2	ORPHA:648
HP:0000348	High forehead	867	CBL	ORPHA:648
HP:0000348	High forehead	8216	LZTR1	ORPHA:648
HP:0000348	High forehead	6016	RIT1	ORPHA:648
HP:0000348	High forehead	6237	RRAS	ORPHA:648
HP:0000348	High forehead	5894	RAF1	ORPHA:648
HP:0000348	High forehead	200734	SPRED2	ORPHA:648
HP:0000348	High forehead	6654	SOS1	ORPHA:648
HP:0000348	High forehead	6655	SOS2	ORPHA:648
HP:0000348	High forehead	5781	PTPN11	ORPHA:648
HP:0000348	High forehead	5922	RASA2	ORPHA:648
HP:0000348	High forehead	84081	NSRP1	OMIM:620001
HP:0000348	High forehead	129285	PPP1R21	OMIM:619383
HP:0000348	High forehead	55553	SOX6	OMIM:618971
HP:0000348	High forehead	2036	EPB41L1	OMIM:614257
HP:0000348	High forehead	10736	SIX2	ORPHA:488437
HP:0000348	High forehead	4654	MYOD1	OMIM:618975
HP:0000348	High forehead	84168	ANTXR1	ORPHA:2067
HP:0000348	High forehead	25886	POC1A	OMIM:614813
HP:0000348	High forehead	871	SERPINH1	OMIM:613848
HP:0000348	High forehead	2108	ETFA	OMIM:231680
HP:0000348	High forehead	2109	ETFB	OMIM:231680
HP:0000348	High forehead	2110	ETFDH	OMIM:231680
HP:0000348	High forehead	2690	GHR	ORPHA:633
HP:0000348	High forehead	5052	PRDX1	OMIM:277400
HP:0000346	Whistling appearance	4621	MYH3	OMIM:193700
HP:0007505	Progressive hyperpigmentation	4254	KITLG	OMIM:145250
HP:0007620	Cutaneous leiomyoma	2271	FH	OMIM:606812
HP:0007620	Cutaneous leiomyoma	2271	FH	OMIM:150800
HP:0007620	Cutaneous leiomyoma	2271	FH	ORPHA:523
HP:0007620	Cutaneous leiomyoma	201163	FLCN	OMIM:135150
HP:0007501	Streaks of hyperkeratosis along each finger onto the palm	1828	DSG1	OMIM:148700
HP:0007502	Follicular hyperkeratosis	147409	DSG4	ORPHA:573
HP:0007502	Follicular hyperkeratosis	147409	DSG4	OMIM:607903
HP:0007502	Follicular hyperkeratosis	3892	KRT86	ORPHA:573
HP:0007502	Follicular hyperkeratosis	3889	KRT83	ORPHA:573
HP:0007502	Follicular hyperkeratosis	3887	KRT81	ORPHA:573
HP:0007502	Follicular hyperkeratosis	10804	GJB6	ORPHA:477
HP:0007502	Follicular hyperkeratosis	2706	GJB2	ORPHA:477
HP:0007502	Follicular hyperkeratosis	5317	PKP1	ORPHA:158668
HP:0007502	Follicular hyperkeratosis	1291	COL6A1	OMIM:254090
HP:0007502	Follicular hyperkeratosis	1292	COL6A2	OMIM:254090
HP:0007502	Follicular hyperkeratosis	1293	COL6A3	OMIM:254090
HP:0007502	Follicular hyperkeratosis	5351	PLOD1	OMIM:225400
HP:0007502	Follicular hyperkeratosis	55033	FKBP14	ORPHA:300179
HP:0007502	Follicular hyperkeratosis	55033	FKBP14	OMIM:614557
HP:0007502	Follicular hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0007502	Follicular hyperkeratosis	6897	TARS1	OMIM:618546
HP:0007502	Follicular hyperkeratosis	3868	KRT16	OMIM:167200
HP:0007502	Follicular hyperkeratosis	3868	KRT16	OMIM:613000
HP:0007502	Follicular hyperkeratosis	3868	KRT16	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	55851	PSENEN	OMIM:613736
HP:0007502	Follicular hyperkeratosis	4035	LRP1	ORPHA:79100
HP:0007502	Follicular hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0007502	Follicular hyperkeratosis	6720	SREBF1	OMIM:158310
HP:0007502	Follicular hyperkeratosis	10999	SLC27A4	OMIM:608649
HP:0007502	Follicular hyperkeratosis	51360	MBTPS2	OMIM:308800
HP:0007502	Follicular hyperkeratosis	51360	MBTPS2	OMIM:308205
HP:0007502	Follicular hyperkeratosis	9325	TRIP4	OMIM:617066
HP:0007502	Follicular hyperkeratosis	9325	TRIP4	ORPHA:486815
HP:0007502	Follicular hyperkeratosis	831	CAST	OMIM:616295
HP:0007502	Follicular hyperkeratosis	4921	DDR2	OMIM:618175
HP:0007502	Follicular hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0007502	Follicular hyperkeratosis	22861	NLRP1	OMIM:615225
HP:0007502	Follicular hyperkeratosis	5950	RBP4	OMIM:615147
HP:0007502	Follicular hyperkeratosis	1825	DSC3	OMIM:613102
HP:0007502	Follicular hyperkeratosis	23509	POFUT1	OMIM:615327
HP:0007502	Follicular hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0007502	Follicular hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	3872	KRT17	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0007503	Generalized ichthyosis	10999	SLC27A4	OMIM:608649
HP:0007503	Generalized ichthyosis	26227	PHGDH	ORPHA:79351
HP:0007503	Generalized ichthyosis	4014	LORICRIN	ORPHA:79395
HP:0007503	Generalized ichthyosis	348938	NIPAL4	OMIM:612281
HP:0007503	Generalized ichthyosis	285848	PNPLA1	OMIM:615024
HP:0010566	Hamartoma	2737	GLI3	ORPHA:672
HP:0010566	Hamartoma	2737	GLI3	OMIM:146510
HP:0010566	Hamartoma	8481	OFD1	OMIM:311200
HP:0010566	Hamartoma	8481	OFD1	ORPHA:2754
HP:0010566	Hamartoma	6608	SMO	OMIM:241800
HP:0010566	Hamartoma	64601	VPS16	OMIM:619291
HP:0010566	Hamartoma	4990	SIX6	OMIM:206900
HP:0010566	Hamartoma	6657	SOX2	OMIM:206900
HP:0010566	Hamartoma	4123	MAN2C1	OMIM:619775
HP:0010566	Hamartoma	65250	CPLANE1	OMIM:277170
HP:0010566	Hamartoma	65250	CPLANE1	ORPHA:2754
HP:0010566	Hamartoma	7074	TIAM1	OMIM:619908
HP:0010566	Hamartoma	10210	TOPORS	ORPHA:2754
HP:0010566	Hamartoma	9851	KIAA0753	ORPHA:2754
HP:0010566	Hamartoma	26123	TCTN3	ORPHA:2754
HP:0010566	Hamartoma	5147	PDE6D	ORPHA:2754
HP:0010566	Hamartoma	51259	TMEM216	ORPHA:2754
HP:0010566	Hamartoma	317662	FAM149B1	ORPHA:2754
HP:0010566	Hamartoma	374654	KIF7	ORPHA:2754
HP:0010566	Hamartoma	6794	STK11	OMIM:175200
HP:0010566	Hamartoma	4437	MSH3	ORPHA:480536
HP:0010566	Hamartoma	4089	SMAD4	OMIM:175050
HP:0010566	Hamartoma	5727	PTCH1	OMIM:109400
HP:0010566	Hamartoma	4598	MVK	OMIM:260920
HP:0010566	Hamartoma	1027	CDKN1B	OMIM:610755
HP:0010566	Hamartoma	1027	CDKN1B	ORPHA:276152
HP:0010566	Hamartoma	129563	DIS3L2	OMIM:267000
HP:0010566	Hamartoma	4771	NF2	ORPHA:637
HP:0010566	Hamartoma	4771	NF2	OMIM:101000
HP:0010566	Hamartoma	7428	VHL	ORPHA:892
HP:0010566	Hamartoma	7428	VHL	ORPHA:29072
HP:0010566	Hamartoma	7428	VHL	OMIM:193300
HP:0010566	Hamartoma	595	CCND1	ORPHA:892
HP:0010566	Hamartoma	595	CCND1	OMIM:193300
HP:0010566	Hamartoma	1743	DLST	ORPHA:29072
HP:0010566	Hamartoma	4191	MDH2	ORPHA:29072
HP:0010566	Hamartoma	5979	RET	ORPHA:29072
HP:0010566	Hamartoma	6389	SDHA	ORPHA:29072
HP:0010566	Hamartoma	23095	KIF1B	ORPHA:29072
HP:0010566	Hamartoma	2271	FH	ORPHA:29072
HP:0010566	Hamartoma	8402	SLC25A11	ORPHA:29072
HP:0010566	Hamartoma	54949	SDHAF2	ORPHA:29072
HP:0010566	Hamartoma	55654	TMEM127	ORPHA:29072
HP:0010566	Hamartoma	4763	NF1	ORPHA:29072
HP:0010566	Hamartoma	4149	MAX	ORPHA:29072
HP:0010566	Hamartoma	2639	GCDH	ORPHA:25
HP:0010566	Hamartoma	7249	TSC2	OMIM:613254
HP:0010566	Hamartoma	7249	TSC2	ORPHA:805
HP:0010566	Hamartoma	3458	IFNG	OMIM:613254
HP:0010566	Hamartoma	3458	IFNG	ORPHA:805
HP:0010566	Hamartoma	7248	TSC1	ORPHA:805
HP:0010566	Hamartoma	7248	TSC1	OMIM:191100
HP:0010566	Hamartoma	2956	MSH6	OMIM:619097
HP:0010566	Hamartoma	161742	SPRED1	ORPHA:137605
HP:0010566	Hamartoma	7020	TFAP2A	OMIM:113620
HP:0010566	Hamartoma	90	ACVR1	OMIM:135100
HP:0010566	Hamartoma	51626	DYNC2LI1	OMIM:617088
HP:0010566	Hamartoma	79577	CDC73	OMIM:145001
HP:0010566	Hamartoma	91754	NEK9	ORPHA:64754
HP:0010566	Hamartoma	60	ACTB	ORPHA:64755
HP:0010566	Hamartoma	100144748	KLLN	OMIM:615107
HP:0010566	Hamartoma	5728	PTEN	ORPHA:137608
HP:0010566	Hamartoma	5728	PTEN	ORPHA:744
HP:0010566	Hamartoma	207	AKT1	ORPHA:744
HP:0010566	Hamartoma	324	APC	OMIM:175100
HP:0010566	Hamartoma	324	APC	ORPHA:247806
HP:0010566	Hamartoma	324	APC	ORPHA:79665
HP:0010566	Hamartoma	2248	FGF3	ORPHA:2791
HP:0010566	Hamartoma	657	BMPR1A	OMIM:610069
HP:0010566	Hamartoma	657	BMPR1A	ORPHA:157794
HP:0010566	Hamartoma	26585	GREM1	ORPHA:157794
HP:0010566	Hamartoma	3858	KRT10	ORPHA:312
HP:0010566	Hamartoma	3848	KRT1	ORPHA:312
HP:0010566	Hamartoma	10483	SEC23B	ORPHA:201
HP:0010566	Hamartoma	6390	SDHB	ORPHA:201
HP:0010566	Hamartoma	6392	SDHD	ORPHA:201
HP:0010566	Hamartoma	6391	SDHC	ORPHA:201
HP:0010566	Hamartoma	205717	USF3	ORPHA:201
HP:0010566	Hamartoma	5290	PIK3CA	ORPHA:201
HP:0007510	Focal dermal aplasia/hypoplasia	64840	PORCN	OMIM:305600
HP:0007514	Edema of the dorsum of hands	284	ANGPT1	OMIM:619361
HP:0007514	Edema of the dorsum of hands	9373	PLAA	ORPHA:521426
HP:0007514	Edema of the dorsum of hands	7051	TGM1	ORPHA:281127
HP:0007514	Edema of the dorsum of hands	11342	RNF13	ORPHA:544503
HP:0007514	Edema of the dorsum of hands	710	SERPING1	ORPHA:100050
HP:0007514	Edema of the dorsum of hands	64711	HS3ST6	OMIM:619367
HP:0007514	Edema of the dorsum of hands	2050	EPHB4	ORPHA:90186
HP:0007514	Edema of the dorsum of hands	9939	RBM8A	OMIM:274000
HP:0007514	Edema of the dorsum of hands	9326	ZNHIT3	OMIM:260565
HP:0007514	Edema of the dorsum of hands	3827	KNG1	OMIM:619363
HP:0007514	Edema of the dorsum of hands	58	ACTA1	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	4703	NEB	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	131377	KLHL40	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	10324	KLHL41	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	56203	LMOD3	ORPHA:171430
HP:0000350	Small forehead	7020	TFAP2A	OMIM:113620
HP:0000350	Small forehead	51126	NAA20	OMIM:619717
HP:0000350	Small forehead	23556	PIGN	ORPHA:280633
HP:0000350	Small forehead	55768	NGLY1	OMIM:615273
HP:0000350	Small forehead	8242	KDM5C	OMIM:300534
HP:0000350	Small forehead	23312	DMXL2	OMIM:618663
HP:0000350	Small forehead	55081	IFT57	OMIM:617927
HP:0000350	Small forehead	5649	RELN	ORPHA:89844
HP:0000350	Small forehead	10300	KATNB1	ORPHA:89844
HP:0000350	Small forehead	54820	NDE1	ORPHA:89844
HP:0000350	Small forehead	57231	SNX14	ORPHA:397709
HP:0000350	Small forehead	1020	CDK5	OMIM:616342
HP:0000357	Abnormal location of ears	1718	DHCR24	OMIM:602398
HP:0000357	Abnormal location of ears	7528	YY1	ORPHA:506358
HP:0000357	Abnormal location of ears	7528	YY1	OMIM:617557
HP:0000357	Abnormal location of ears	8036	SHOC2	OMIM:607721
HP:0000357	Abnormal location of ears	10262	SF3B4	OMIM:154400
HP:0000357	Abnormal location of ears	8294	H4C9	OMIM:619951
HP:0000357	Abnormal location of ears	9853	RUSC2	OMIM:617773
HP:0000357	Abnormal location of ears	6659	SOX4	OMIM:618506
HP:0000357	Abnormal location of ears	161742	SPRED1	OMIM:611431
HP:0000357	Abnormal location of ears	51126	NAA20	OMIM:619717
HP:0000357	Abnormal location of ears	673	BRAF	OMIM:115150
HP:0000357	Abnormal location of ears	673	BRAF	OMIM:613707
HP:0000357	Abnormal location of ears	55627	SMPD4	OMIM:618622
HP:0000357	Abnormal location of ears	4897	NRCAM	OMIM:619833
HP:0000357	Abnormal location of ears	23126	POGZ	ORPHA:468678
HP:0000357	Abnormal location of ears	23126	POGZ	OMIM:616364
HP:0000357	Abnormal location of ears	4784	NFIX	ORPHA:447980
HP:0000357	Abnormal location of ears	4281	MID1	OMIM:300000
HP:0000357	Abnormal location of ears	4281	MID1	ORPHA:2745
HP:0000357	Abnormal location of ears	374654	KIF7	OMIM:200990
HP:0000357	Abnormal location of ears	3020	H3-3A	OMIM:619720
HP:0000357	Abnormal location of ears	80816	ASXL3	OMIM:615485
HP:0000357	Abnormal location of ears	129563	DIS3L2	ORPHA:2849
HP:0000357	Abnormal location of ears	25782	RAB3GAP2	OMIM:212720
HP:0000357	Abnormal location of ears	4286	MITF	OMIM:617306
HP:0000357	Abnormal location of ears	10225	CD96	OMIM:211750
HP:0000357	Abnormal location of ears	9382	COG1	OMIM:611209
HP:0000357	Abnormal location of ears	5189	PEX1	OMIM:214100
HP:0000357	Abnormal location of ears	55650	PIGV	OMIM:239300
HP:0000357	Abnormal location of ears	6595	SMARCA2	OMIM:619293
HP:0000357	Abnormal location of ears	6595	SMARCA2	OMIM:601358
HP:0000357	Abnormal location of ears	2590	GALNT2	OMIM:618885
HP:0000357	Abnormal location of ears	57492	ARID1B	OMIM:135900
HP:0000357	Abnormal location of ears	64324	NSD1	OMIM:117550
HP:0000357	Abnormal location of ears	80204	FBXO11	OMIM:618089
HP:0000357	Abnormal location of ears	5119	CHMP1A	OMIM:614961
HP:0000357	Abnormal location of ears	1889	ECE1	OMIM:613870
HP:0000357	Abnormal location of ears	64359	NXN	OMIM:618529
HP:0000357	Abnormal location of ears	23184	MESD	OMIM:618644
HP:0000357	Abnormal location of ears	55858	TMEM165	OMIM:614727
HP:0000357	Abnormal location of ears	8546	AP3B1	OMIM:608233
HP:0000357	Abnormal location of ears	3339	HSPG2	ORPHA:1865
HP:0000357	Abnormal location of ears	3339	HSPG2	OMIM:224410
HP:0000357	Abnormal location of ears	7020	TFAP2A	OMIM:113620
HP:0000357	Abnormal location of ears	1717	DHCR7	OMIM:270400
HP:0000357	Abnormal location of ears	23116	TOGARAM1	OMIM:619185
HP:0000357	Abnormal location of ears	9401	RECQL4	OMIM:218600
HP:0000357	Abnormal location of ears	9839	ZEB2	ORPHA:261552
HP:0000357	Abnormal location of ears	9839	ZEB2	ORPHA:261537
HP:0000357	Abnormal location of ears	652	BMP4	OMIM:607932
HP:0000357	Abnormal location of ears	4330	MN1	OMIM:618774
HP:0000357	Abnormal location of ears	6885	MAP3K7	OMIM:157800
HP:0000357	Abnormal location of ears	55012	PPP2R3C	OMIM:618419
HP:0000357	Abnormal location of ears	1954	MEGF8	OMIM:614976
HP:0000357	Abnormal location of ears	23314	SATB2	OMIM:612313
HP:0000357	Abnormal location of ears	4598	MVK	OMIM:610377
HP:0000357	Abnormal location of ears	200734	SPRED2	OMIM:619745
HP:0000357	Abnormal location of ears	4036	LRP2	ORPHA:2143
HP:0000357	Abnormal location of ears	4036	LRP2	OMIM:222448
HP:0000357	Abnormal location of ears	26005	C2CD3	OMIM:615948
HP:0000357	Abnormal location of ears	3265	HRAS	OMIM:218040
HP:0000357	Abnormal location of ears	4247	MGAT2	OMIM:212066
HP:0000357	Abnormal location of ears	4247	MGAT2	ORPHA:79329
HP:0000357	Abnormal location of ears	2773	GNAI3	OMIM:602483
HP:0000357	Abnormal location of ears	8241	RBM10	OMIM:311900
HP:0000357	Abnormal location of ears	6234	RPS28	OMIM:606164
HP:0000357	Abnormal location of ears	9653	HS2ST1	OMIM:619194
HP:0000357	Abnormal location of ears	253738	EBF3	OMIM:617330
HP:0000357	Abnormal location of ears	8493	PPM1D	OMIM:617450
HP:0000357	Abnormal location of ears	26038	CHD5	OMIM:619873
HP:0000357	Abnormal location of ears	1182	CLCN3	OMIM:619512
HP:0000357	Abnormal location of ears	4593	MUSK	OMIM:208150
HP:0000357	Abnormal location of ears	4593	MUSK	ORPHA:994
HP:0000357	Abnormal location of ears	29081	METTL5	OMIM:618665
HP:0000357	Abnormal location of ears	6905	TBCE	OMIM:241410
HP:0000357	Abnormal location of ears	57680	CHD8	OMIM:615032
HP:0000357	Abnormal location of ears	8558	CDK10	OMIM:617694
HP:0000357	Abnormal location of ears	3572	IL6ST	OMIM:619750
HP:0000357	Abnormal location of ears	56006	SMG9	OMIM:616920
HP:0000357	Abnormal location of ears	1857	DVL3	ORPHA:3107
HP:0000357	Abnormal location of ears	7474	WNT5A	ORPHA:3107
HP:0000357	Abnormal location of ears	7474	WNT5A	OMIM:180700
HP:0000357	Abnormal location of ears	1855	DVL1	ORPHA:3107
HP:0000357	Abnormal location of ears	1855	DVL1	OMIM:180700
HP:0000357	Abnormal location of ears	2535	FZD2	ORPHA:3107
HP:0000357	Abnormal location of ears	2535	FZD2	OMIM:164745
HP:0000357	Abnormal location of ears	3845	KRAS	OMIM:615278
HP:0000357	Abnormal location of ears	3845	KRAS	OMIM:609942
HP:0000357	Abnormal location of ears	6660	SOX5	OMIM:616803
HP:0000357	Abnormal location of ears	285175	UNC80	OMIM:616801
HP:0000357	Abnormal location of ears	3211	HOXB1	OMIM:614744
HP:0000357	Abnormal location of ears	54499	TMCO1	OMIM:213980
HP:0000357	Abnormal location of ears	11128	POLR3A	OMIM:264090
HP:0000357	Abnormal location of ears	11128	POLR3A	ORPHA:3455
HP:0000357	Abnormal location of ears	79718	TBL1XR1	OMIM:602342
HP:0000357	Abnormal location of ears	79718	TBL1XR1	ORPHA:487825
HP:0000357	Abnormal location of ears	4094	MAF	ORPHA:1272
HP:0000357	Abnormal location of ears	4094	MAF	OMIM:601088
HP:0000357	Abnormal location of ears	7750	ZMYM2	OMIM:619522
HP:0000357	Abnormal location of ears	5594	MAPK1	OMIM:619087
HP:0000357	Abnormal location of ears	6942	TCF20	OMIM:618430
HP:0000357	Abnormal location of ears	55670	PEX26	OMIM:614872
HP:0000357	Abnormal location of ears	2263	FGFR2	OMIM:123790
HP:0000357	Abnormal location of ears	23261	CAMTA1	OMIM:614756
HP:0000357	Abnormal location of ears	4763	NF1	OMIM:193520
HP:0000357	Abnormal location of ears	4763	NF1	OMIM:601321
HP:0000357	Abnormal location of ears	9772	TMEM94	OMIM:618316
HP:0000357	Abnormal location of ears	388015	RTL1	ORPHA:96334
HP:0000357	Abnormal location of ears	8788	DLK1	ORPHA:96334
HP:0000357	Abnormal location of ears	55384	MEG3	ORPHA:96334
HP:0000357	Abnormal location of ears	6231	RPS26	OMIM:613309
HP:0000357	Abnormal location of ears	2316	FLNA	OMIM:304120
HP:0000357	Abnormal location of ears	56975	FAM20C	ORPHA:1832
HP:0000357	Abnormal location of ears	56975	FAM20C	OMIM:259775
HP:0000357	Abnormal location of ears	55691	FRMD4A	OMIM:616819
HP:0000357	Abnormal location of ears	4920	ROR2	OMIM:268310
HP:0000357	Abnormal location of ears	51322	WAC	ORPHA:284169
HP:0000357	Abnormal location of ears	51322	WAC	OMIM:616708
HP:0000357	Abnormal location of ears	51322	WAC	ORPHA:466950
HP:0000357	Abnormal location of ears	23556	PIGN	OMIM:614080
HP:0000357	Abnormal location of ears	4621	MYH3	OMIM:178110
HP:0000357	Abnormal location of ears	7030	TFE3	OMIM:301066
HP:0000357	Abnormal location of ears	9968	MED12	OMIM:300895
HP:0000357	Abnormal location of ears	6603	SMARCD2	OMIM:617475
HP:0000357	Abnormal location of ears	546	ATRX	OMIM:309580
HP:0000357	Abnormal location of ears	546	ATRX	OMIM:301040
HP:0000357	Abnormal location of ears	64919	BCL11B	OMIM:617237
HP:0000357	Abnormal location of ears	4087	SMAD2	OMIM:619657
HP:0000357	Abnormal location of ears	701	BUB1B	OMIM:257300
HP:0000357	Abnormal location of ears	157570	ESCO2	OMIM:268300
HP:0000357	Abnormal location of ears	171023	ASXL1	OMIM:605039
HP:0000357	Abnormal location of ears	8295	TRRAP	OMIM:618454
HP:0000357	Abnormal location of ears	9742	IFT140	OMIM:266920
HP:0000357	Abnormal location of ears	5781	PTPN11	OMIM:151100
HP:0000357	Abnormal location of ears	29123	ANKRD11	OMIM:148050
HP:0000357	Abnormal location of ears	8621	CDK13	OMIM:617360
HP:0000357	Abnormal location of ears	2033	EP300	OMIM:613684
HP:0000357	Abnormal location of ears	867	CBL	OMIM:613563
HP:0000357	Abnormal location of ears	22907	DHX30	OMIM:617804
HP:0000357	Abnormal location of ears	5426	POLE	OMIM:618336
HP:0000357	Abnormal location of ears	5081	PAX7	OMIM:618578
HP:0000357	Abnormal location of ears	51053	GMNN	OMIM:616835
HP:0000357	Abnormal location of ears	51053	GMNN	ORPHA:2554
HP:0000357	Abnormal location of ears	10664	CTCF	OMIM:615502
HP:0000357	Abnormal location of ears	2200	FBN1	ORPHA:2462
HP:0000357	Abnormal location of ears	6497	SKI	ORPHA:2462
HP:0000357	Abnormal location of ears	6497	SKI	OMIM:182212
HP:0000357	Abnormal location of ears	164	AP1G1	OMIM:619548
HP:0000357	Abnormal location of ears	6664	SOX11	OMIM:615866
HP:0000357	Abnormal location of ears	63895	PIEZO2	ORPHA:2461
HP:0000357	Abnormal location of ears	196528	ARID2	OMIM:617808
HP:0000357	Abnormal location of ears	8216	LZTR1	OMIM:605275
HP:0000357	Abnormal location of ears	6654	SOS1	OMIM:610733
HP:0000357	Abnormal location of ears	10075	HUWE1	OMIM:309590
HP:0000357	Abnormal location of ears	2879	GPX4	OMIM:250220
HP:0000357	Abnormal location of ears	64132	XYLT2	OMIM:605822
HP:0000357	Abnormal location of ears	9488	PIGB	OMIM:618580
HP:0000357	Abnormal location of ears	84706	GPT2	OMIM:616281
HP:0000357	Abnormal location of ears	55906	ZC4H2	OMIM:301041
HP:0000357	Abnormal location of ears	8504	PEX3	OMIM:617370
HP:0000357	Abnormal location of ears	8243	SMC1A	OMIM:301044
HP:0000357	Abnormal location of ears	8925	HERC1	OMIM:617011
HP:0000357	Abnormal location of ears	5898	RALA	OMIM:619311
HP:0000357	Abnormal location of ears	10466	COG5	ORPHA:263487
HP:0000357	Abnormal location of ears	6477	SIAH1	OMIM:619314
HP:0000357	Abnormal location of ears	2335	FN1	ORPHA:93315
HP:0000357	Abnormal location of ears	1280	COL2A1	ORPHA:93315
HP:0000357	Abnormal location of ears	23394	ADNP	OMIM:615873
HP:0000357	Abnormal location of ears	8092	ALX1	OMIM:613456
HP:0000357	Abnormal location of ears	5332	PLCB4	OMIM:614669
HP:0000357	Abnormal location of ears	6418	SET	OMIM:618106
HP:0000357	Abnormal location of ears	65062	TMEM237	OMIM:614424
HP:0000357	Abnormal location of ears	50814	NSDHL	ORPHA:251383
HP:0000357	Abnormal location of ears	50814	NSDHL	OMIM:300831
HP:0000357	Abnormal location of ears	55593	OTUD5	OMIM:301056
HP:0000357	Abnormal location of ears	56945	MRPS22	OMIM:611719
HP:0000357	Abnormal location of ears	128869	PIGU	OMIM:618590
HP:0000357	Abnormal location of ears	5575	PRKAR1B	OMIM:619680
HP:0000357	Abnormal location of ears	7707	ZNF148	OMIM:617260
HP:0000357	Abnormal location of ears	10847	SRCAP	OMIM:136140
HP:0000357	Abnormal location of ears	1349	COX7B	OMIM:300887
HP:0000357	Abnormal location of ears	91179	SCARF2	OMIM:600920
HP:0000357	Abnormal location of ears	4854	NOTCH3	OMIM:130720
HP:0000357	Abnormal location of ears	4854	NOTCH3	ORPHA:2789
HP:0000357	Abnormal location of ears	6647	SOD1	OMIM:618598
HP:0000357	Abnormal location of ears	29998	BICRA	OMIM:619325
HP:0000357	Abnormal location of ears	5859	QARS1	OMIM:615760
HP:0000357	Abnormal location of ears	23030	KDM4B	OMIM:619320
HP:0000357	Abnormal location of ears	84162	BLTP1	OMIM:617822
HP:0000357	Abnormal location of ears	473	RERE	OMIM:616975
HP:0000357	Abnormal location of ears	2782	GNB1	OMIM:616973
HP:0000357	Abnormal location of ears	998	CDC42	OMIM:616737
HP:0000357	Abnormal location of ears	4081	MAB21L1	OMIM:618479
HP:0000357	Abnormal location of ears	5831	PYCR1	OMIM:614438
HP:0000357	Abnormal location of ears	10982	MAPRE2	OMIM:616734
HP:0000357	Abnormal location of ears	176	ACAN	OMIM:612813
HP:0000357	Abnormal location of ears	176	ACAN	ORPHA:171866
HP:0000357	Abnormal location of ears	2067	ERCC1	OMIM:610758
HP:0000357	Abnormal location of ears	9126	SMC3	OMIM:610759
HP:0000357	Abnormal location of ears	4131	MAP1B	OMIM:618918
HP:0000357	Abnormal location of ears	84892	POMGNT2	ORPHA:899
HP:0000357	Abnormal location of ears	148789	B3GALNT2	ORPHA:899
HP:0000357	Abnormal location of ears	79147	FKRP	ORPHA:899
HP:0000357	Abnormal location of ears	29954	POMT2	ORPHA:899
HP:0000357	Abnormal location of ears	9215	LARGE1	ORPHA:899
HP:0000357	Abnormal location of ears	1282	COL4A1	ORPHA:899
HP:0000357	Abnormal location of ears	729920	CRPPA	ORPHA:899
HP:0000357	Abnormal location of ears	10329	RXYLT1	ORPHA:899
HP:0000357	Abnormal location of ears	1605	DAG1	ORPHA:899
HP:0000357	Abnormal location of ears	11041	B4GAT1	ORPHA:899
HP:0000357	Abnormal location of ears	10585	POMT1	ORPHA:899
HP:0000357	Abnormal location of ears	84197	POMK	ORPHA:899
HP:0000357	Abnormal location of ears	2218	FKTN	ORPHA:899
HP:0000357	Abnormal location of ears	55624	POMGNT1	ORPHA:899
HP:0000357	Abnormal location of ears	90161	HS6ST2	OMIM:301025
HP:0000357	Abnormal location of ears	3756	KCNH1	OMIM:135500
HP:0000357	Abnormal location of ears	81620	CDT1	ORPHA:2554
HP:0000357	Abnormal location of ears	5000	ORC4	ORPHA:2554
HP:0000357	Abnormal location of ears	23594	ORC6	ORPHA:2554
HP:0000357	Abnormal location of ears	23594	ORC6	OMIM:613803
HP:0000357	Abnormal location of ears	8318	CDC45	ORPHA:2554
HP:0000357	Abnormal location of ears	990	CDC6	ORPHA:2554
HP:0000357	Abnormal location of ears	4998	ORC1	ORPHA:2554
HP:0000357	Abnormal location of ears	1009	CDH11	OMIM:211380
HP:0000357	Abnormal location of ears	1000	CDH2	OMIM:618929
HP:0000357	Abnormal location of ears	22827	PUF60	ORPHA:508488
HP:0000357	Abnormal location of ears	63931	MRPS14	OMIM:618378
HP:0000357	Abnormal location of ears	22808	MRAS	OMIM:618499
HP:0000357	Abnormal location of ears	23522	KAT6B	OMIM:603736
HP:0000357	Abnormal location of ears	23522	KAT6B	ORPHA:3047
HP:0000357	Abnormal location of ears	79796	ALG9	OMIM:263210
HP:0000357	Abnormal location of ears	1822	ATN1	OMIM:618494
HP:0000357	Abnormal location of ears	5144	PDE4D	ORPHA:439822
HP:0000357	Abnormal location of ears	4613	MYCN	OMIM:164280
HP:0000357	Abnormal location of ears	6304	SATB1	OMIM:619229
HP:0000357	Abnormal location of ears	139285	AMER1	ORPHA:2780
HP:0000357	Abnormal location of ears	139285	AMER1	OMIM:300373
HP:0000357	Abnormal location of ears	158326	FREM1	OMIM:608980
HP:0000357	Abnormal location of ears	2737	GLI3	OMIM:146510
HP:0000357	Abnormal location of ears	4927	NUP88	ORPHA:994
HP:0000357	Abnormal location of ears	4927	NUP88	OMIM:618393
HP:0000357	Abnormal location of ears	7846	TUBA1A	ORPHA:994
HP:0000357	Abnormal location of ears	4654	MYOD1	ORPHA:994
HP:0000357	Abnormal location of ears	5913	RAPSN	ORPHA:994
HP:0000357	Abnormal location of ears	6572	SLC18A3	ORPHA:994
HP:0000357	Abnormal location of ears	285489	DOK7	ORPHA:994
HP:0000357	Abnormal location of ears	9851	KIAA0753	OMIM:619476
HP:0000357	Abnormal location of ears	9851	KIAA0753	OMIM:619479
HP:0000357	Abnormal location of ears	6628	SNRPB	OMIM:117650
HP:0000357	Abnormal location of ears	8812	CCNK	OMIM:618147
HP:0000357	Abnormal location of ears	65250	CPLANE1	OMIM:277170
HP:0000357	Abnormal location of ears	5977	DPF2	OMIM:618027
HP:0000357	Abnormal location of ears	10526	IPO8	OMIM:619472
HP:0000357	Abnormal location of ears	94005	PIGS	OMIM:618143
HP:0000357	Abnormal location of ears	145173	B3GLCT	OMIM:261540
HP:0000357	Abnormal location of ears	8929	PHOX2B	OMIM:209880
HP:0000357	Abnormal location of ears	29957	SLC25A24	OMIM:612289
HP:0000357	Abnormal location of ears	8405	SPOP	OMIM:618829
HP:0000357	Abnormal location of ears	11198	SUPT16H	OMIM:619480
HP:0000357	Abnormal location of ears	8720	MBTPS1	OMIM:618392
HP:0000357	Abnormal location of ears	10682	EBP	OMIM:300960
HP:0000357	Abnormal location of ears	113189	CHST14	OMIM:601776
HP:0000357	Abnormal location of ears	3636	INPPL1	OMIM:258480
HP:0000357	Abnormal location of ears	2222	FDFT1	OMIM:618156
HP:0000357	Abnormal location of ears	203068	TUBB	OMIM:156610
HP:0000357	Abnormal location of ears	374879	ZNF699	OMIM:619488
HP:0000357	Abnormal location of ears	8239	USP9X	OMIM:300968
HP:0000357	Abnormal location of ears	114928	GPRASP2	OMIM:301018
HP:0000357	Abnormal location of ears	83737	ITCH	OMIM:613385
HP:0000357	Abnormal location of ears	202018	TAPT1	OMIM:616897
HP:0000357	Abnormal location of ears	28957	MRPS28	OMIM:618958
HP:0000357	Abnormal location of ears	5500	PPP1CB	OMIM:617506
HP:0000357	Abnormal location of ears	64093	SMOC1	OMIM:206920
HP:0000357	Abnormal location of ears	118924	FRA10AC1	OMIM:620113
HP:0000357	Abnormal location of ears	2273	FHL1	OMIM:300280
HP:0000357	Abnormal location of ears	55252	ASXL2	OMIM:617190
HP:0000357	Abnormal location of ears	1376	CPT2	OMIM:608836
HP:0000357	Abnormal location of ears	126792	B3GALT6	ORPHA:536467
HP:0000357	Abnormal location of ears	650	BMP2	OMIM:617877
HP:0000357	Abnormal location of ears	100151683	RNU4ATAC	ORPHA:2636
HP:0000357	Abnormal location of ears	8777	MPDZ	OMIM:615219
HP:0000357	Abnormal location of ears	170692	ADAMTS18	OMIM:615458
HP:0000357	Abnormal location of ears	9757	KMT2B	OMIM:619934
HP:0000357	Abnormal location of ears	84081	NSRP1	OMIM:620001
HP:0000357	Abnormal location of ears	1302	COL11A2	ORPHA:1427
HP:0000357	Abnormal location of ears	26123	TCTN3	ORPHA:2753
HP:0000357	Abnormal location of ears	11011	TLK2	OMIM:618050
HP:0000357	Abnormal location of ears	6913	TBX15	OMIM:260660
HP:0000357	Abnormal location of ears	55181	SMG8	OMIM:619268
HP:0000357	Abnormal location of ears	101929726	MYMX	OMIM:619941
HP:0000357	Abnormal location of ears	23404	EXOSC2	OMIM:617763
HP:0000357	Abnormal location of ears	8665	EIF3F	OMIM:618295
HP:0000357	Abnormal location of ears	4921	DDR2	OMIM:618175
HP:0000357	Abnormal location of ears	10736	SIX2	ORPHA:488437
HP:0000357	Abnormal location of ears	10082	GPC6	ORPHA:93329
HP:0000357	Abnormal location of ears	2260	FGFR1	OMIM:615465
HP:0000357	Abnormal location of ears	8449	DHX16	OMIM:618733
HP:0000357	Abnormal location of ears	9373	PLAA	OMIM:617527
HP:0000357	Abnormal location of ears	25886	POC1A	OMIM:614813
HP:0000357	Abnormal location of ears	8085	KMT2D	OMIM:147920
HP:0000357	Abnormal location of ears	7403	KDM6A	OMIM:147920
HP:0000357	Abnormal location of ears	27125	AFF4	ORPHA:444077
HP:0000357	Abnormal location of ears	7372	UMPS	ORPHA:30
HP:0000357	Abnormal location of ears	4867	NPHP1	ORPHA:220497
HP:0000357	Abnormal location of ears	4867	NPHP1	ORPHA:110
HP:0000357	Abnormal location of ears	72	ACTG2	ORPHA:2604
HP:0000357	Abnormal location of ears	55780	ERMARD	ORPHA:75857
HP:0000357	Abnormal location of ears	9723	SEMA3E	ORPHA:138
HP:0000357	Abnormal location of ears	4952	OCRL	ORPHA:534
HP:0000357	Abnormal location of ears	6023	RMRP	ORPHA:175
HP:0000357	Abnormal location of ears	3039	HBA1	ORPHA:98791
HP:0000357	Abnormal location of ears	3040	HBA2	ORPHA:98791
HP:0000357	Abnormal location of ears	29940	DSE	ORPHA:2953
HP:0000357	Abnormal location of ears	134701	RIPPLY2	ORPHA:2311
HP:0000357	Abnormal location of ears	10683	DLL3	ORPHA:2311
HP:0000357	Abnormal location of ears	3955	LFNG	ORPHA:2311
HP:0000357	Abnormal location of ears	84667	HES7	ORPHA:2311
HP:0000357	Abnormal location of ears	145873	MESP2	ORPHA:2311
HP:0000357	Abnormal location of ears	5605	MAP2K2	ORPHA:1340
HP:0000357	Abnormal location of ears	5605	MAP2K2	ORPHA:638
HP:0000357	Abnormal location of ears	51524	TMEM138	ORPHA:2318
HP:0000357	Abnormal location of ears	23090	ZNF423	ORPHA:2318
HP:0000357	Abnormal location of ears	80184	CEP290	ORPHA:2318
HP:0000357	Abnormal location of ears	80184	CEP290	ORPHA:564
HP:0000357	Abnormal location of ears	80184	CEP290	ORPHA:110
HP:0000357	Abnormal location of ears	57096	RPGRIP1	ORPHA:564
HP:0000357	Abnormal location of ears	10815	CPLX1	ORPHA:280
HP:0000357	Abnormal location of ears	54872	PIGG	ORPHA:280
HP:0000357	Abnormal location of ears	7469	NELFA	ORPHA:280
HP:0000357	Abnormal location of ears	1487	CTBP1	ORPHA:280
HP:0000357	Abnormal location of ears	7468	NSD2	ORPHA:280
HP:0000357	Abnormal location of ears	9184	BUB3	ORPHA:1052
HP:0000357	Abnormal location of ears	699	BUB1	ORPHA:1052
HP:0000357	Abnormal location of ears	1501	CTNND2	ORPHA:281
HP:0000357	Abnormal location of ears	9037	SEMA5A	ORPHA:281
HP:0000357	Abnormal location of ears	1906	EDN1	ORPHA:137888
HP:0000357	Abnormal location of ears	10716	TBR1	ORPHA:1617
HP:0000357	Abnormal location of ears	2313	FLI1	ORPHA:2308
HP:0000357	Abnormal location of ears	23476	BRD4	ORPHA:199
HP:0000357	Abnormal location of ears	55869	HDAC8	ORPHA:199
HP:0000357	Abnormal location of ears	3981	LIG4	ORPHA:235
HP:0000357	Abnormal location of ears	54888	NSUN2	ORPHA:235
HP:0000357	Abnormal location of ears	92482	BBIP1	ORPHA:110
HP:0000357	Abnormal location of ears	11020	IFT27	ORPHA:110
HP:0000357	Abnormal location of ears	582	BBS1	ORPHA:110
HP:0000357	Abnormal location of ears	49855	SCAPER	ORPHA:110
HP:0000357	Abnormal location of ears	51057	WDPCP	ORPHA:110
HP:0000357	Abnormal location of ears	27241	BBS9	ORPHA:110
HP:0000357	Abnormal location of ears	84984	CEP19	ORPHA:110
HP:0000357	Abnormal location of ears	22954	TRIM32	ORPHA:110
HP:0000357	Abnormal location of ears	79738	BBS10	ORPHA:110
HP:0000357	Abnormal location of ears	123016	TTC8	ORPHA:110
HP:0000357	Abnormal location of ears	26160	IFT172	ORPHA:110
HP:0000357	Abnormal location of ears	583	BBS2	ORPHA:110
HP:0000357	Abnormal location of ears	585	BBS4	ORPHA:110
HP:0000357	Abnormal location of ears	8195	MKKS	ORPHA:110
HP:0000357	Abnormal location of ears	54585	LZTFL1	ORPHA:110
HP:0000357	Abnormal location of ears	55212	BBS7	ORPHA:110
HP:0000357	Abnormal location of ears	166379	BBS12	ORPHA:110
HP:0000357	Abnormal location of ears	10806	SDCCAG8	ORPHA:110
HP:0000357	Abnormal location of ears	157657	CFAP418	ORPHA:110
HP:0000357	Abnormal location of ears	84100	ARL6	ORPHA:110
HP:0000357	Abnormal location of ears	129880	BBS5	ORPHA:110
HP:0000357	Abnormal location of ears	80173	IFT74	ORPHA:110
HP:0000357	Abnormal location of ears	10908	PNPLA6	ORPHA:2377
HP:0000357	Abnormal location of ears	6804	STX1A	ORPHA:904
HP:0000357	Abnormal location of ears	7461	CLIP2	ORPHA:904
HP:0000357	Abnormal location of ears	84277	DNAJC30	ORPHA:904
HP:0000357	Abnormal location of ears	8468	FKBP6	ORPHA:904
HP:0000357	Abnormal location of ears	5982	RFC2	ORPHA:904
HP:0000357	Abnormal location of ears	2969	GTF2I	ORPHA:904
HP:0000357	Abnormal location of ears	3984	LIMK1	ORPHA:904
HP:0000357	Abnormal location of ears	9569	GTF2IRD1	ORPHA:904
HP:0000357	Abnormal location of ears	155382	VPS37D	ORPHA:904
HP:0000357	Abnormal location of ears	155368	METTL27	ORPHA:904
HP:0000357	Abnormal location of ears	114049	BUD23	ORPHA:904
HP:0000357	Abnormal location of ears	7458	EIF4H	ORPHA:904
HP:0000357	Abnormal location of ears	84163	GTF2IRD2	ORPHA:904
HP:0000357	Abnormal location of ears	9275	BCL7B	ORPHA:904
HP:0000357	Abnormal location of ears	26608	TBL2	ORPHA:904
HP:0000357	Abnormal location of ears	653361	NCF1	ORPHA:904
HP:0000357	Abnormal location of ears	135886	TMEM270	ORPHA:904
HP:0000357	Abnormal location of ears	51085	MLXIPL	ORPHA:904
HP:0000357	Abnormal location of ears	9031	BAZ1B	ORPHA:904
HP:0000357	Abnormal location of ears	5590	PRKCZ	ORPHA:1606
HP:0000357	Abnormal location of ears	2563	GABRD	ORPHA:1606
HP:0000357	Abnormal location of ears	8510	MMP23B	ORPHA:1606
HP:0000357	Abnormal location of ears	7798	LUZP1	ORPHA:1606
HP:0000357	Abnormal location of ears	10630	PDPN	ORPHA:1606
HP:0000357	Abnormal location of ears	10277	UBE4B	ORPHA:1606
HP:0000357	Abnormal location of ears	8514	KCNAB2	ORPHA:1606
HP:0000357	Abnormal location of ears	63976	PRDM16	ORPHA:1606
HP:0000357	Abnormal location of ears	54897	CASZ1	ORPHA:1606
HP:0000357	Abnormal location of ears	25914	RTTN	ORPHA:468631
HP:0000357	Abnormal location of ears	2131	EXT1	ORPHA:502
HP:0000357	Abnormal location of ears	7227	TRPS1	ORPHA:502
HP:0000357	Abnormal location of ears	10743	RAI1	ORPHA:1713
HP:0000357	Abnormal location of ears	5495	PPM1B	ORPHA:163693
HP:0000357	Abnormal location of ears	6519	SLC3A1	ORPHA:163693
HP:0000357	Abnormal location of ears	9581	PREPL	ORPHA:163693
HP:0000357	Abnormal location of ears	79823	CAMKMT	ORPHA:163693
HP:0000357	Abnormal location of ears	5824	PEX19	ORPHA:44
HP:0000357	Abnormal location of ears	9409	PEX16	ORPHA:44
HP:0000357	Abnormal location of ears	5190	PEX6	ORPHA:44
HP:0000357	Abnormal location of ears	8799	PEX11B	ORPHA:44
HP:0000357	Abnormal location of ears	5194	PEX13	ORPHA:44
HP:0000357	Abnormal location of ears	5195	PEX14	ORPHA:44
HP:0000357	Abnormal location of ears	2719	GPC3	ORPHA:373
HP:0000357	Abnormal location of ears	59341	TRPV4	ORPHA:2635
HP:0000357	Abnormal location of ears	22800	RRAS2	ORPHA:648
HP:0000357	Abnormal location of ears	6237	RRAS	ORPHA:648
HP:0000357	Abnormal location of ears	6655	SOS2	ORPHA:648
HP:0000357	Abnormal location of ears	5922	RASA2	ORPHA:648
HP:0000357	Abnormal location of ears	9939	RBM8A	ORPHA:3320
HP:0000357	Abnormal location of ears	22931	RAB18	ORPHA:2510
HP:0000357	Abnormal location of ears	128637	TBC1D20	ORPHA:2510
HP:0000357	Abnormal location of ears	64131	XYLT1	ORPHA:1425
HP:0000357	Abnormal location of ears	124583	CANT1	ORPHA:1425
HP:0000357	Abnormal location of ears	55790	CSGALNACT1	ORPHA:1425
HP:0000357	Abnormal location of ears	10210	TOPORS	ORPHA:2754
HP:0000357	Abnormal location of ears	5147	PDE6D	ORPHA:2754
HP:0000357	Abnormal location of ears	317662	FAM149B1	ORPHA:2754
HP:0000357	Abnormal location of ears	3239	HOXD13	ORPHA:887
HP:0000357	Abnormal location of ears	23512	SUZ12	ORPHA:3447
HP:0000357	Abnormal location of ears	2146	EZH2	ORPHA:3447
HP:0000357	Abnormal location of ears	6736	SRY	ORPHA:1772
HP:0000357	Abnormal location of ears	2245	FGD1	ORPHA:915
HP:0000357	Abnormal location of ears	23019	CNOT1	OMIM:618500
HP:0000357	Abnormal location of ears	23019	CNOT1	ORPHA:556955
HP:0000357	Abnormal location of ears	28981	IFT81	OMIM:617895
HP:0000357	Abnormal location of ears	6228	RPS23	OMIM:617412
HP:0000357	Abnormal location of ears	7360	UGP2	OMIM:618744
HP:0000357	Abnormal location of ears	7021	TFAP2B	OMIM:169100
HP:0000357	Abnormal location of ears	51	ACOX1	ORPHA:2971
HP:0000357	Abnormal location of ears	51	ACOX1	OMIM:264470
HP:0000357	Abnormal location of ears	55209	SETD5	ORPHA:404440
HP:0000357	Abnormal location of ears	55209	SETD5	OMIM:615761
HP:0000357	Abnormal location of ears	1836	SLC26A2	ORPHA:56304
HP:0000357	Abnormal location of ears	1836	SLC26A2	ORPHA:93307
HP:0000357	Abnormal location of ears	6662	SOX9	ORPHA:140
HP:0000357	Abnormal location of ears	6662	SOX9	OMIM:114290
HP:0000357	Abnormal location of ears	2073	ERCC5	OMIM:616570
HP:0000357	Abnormal location of ears	9578	CDC42BPB	OMIM:619841
HP:0000357	Abnormal location of ears	8942	KYNU	OMIM:617661
HP:0000357	Abnormal location of ears	283489	CHAMP1	OMIM:616579
HP:0000357	Abnormal location of ears	27245	AHDC1	ORPHA:412069
HP:0000357	Abnormal location of ears	27245	AHDC1	OMIM:615829
HP:0000357	Abnormal location of ears	23426	GRIP1	OMIM:617667
HP:0000357	Abnormal location of ears	341640	FREM2	OMIM:617666
HP:0000357	Abnormal location of ears	55690	PACS1	OMIM:615009
HP:0000357	Abnormal location of ears	55690	PACS1	ORPHA:329224
HP:0000357	Abnormal location of ears	84520	GON7	OMIM:619603
HP:0000357	Abnormal location of ears	818	CAMK2G	OMIM:618522
HP:0000357	Abnormal location of ears	10606	PAICS	OMIM:619859
HP:0000357	Abnormal location of ears	81857	MED25	ORPHA:464738
HP:0000357	Abnormal location of ears	81857	MED25	OMIM:616449
HP:0000357	Abnormal location of ears	55681	SCYL2	OMIM:618766
HP:0000357	Abnormal location of ears	857	CAV1	OMIM:606721
HP:0000357	Abnormal location of ears	26040	SETBP1	OMIM:269150
HP:0000357	Abnormal location of ears	26040	SETBP1	ORPHA:798
HP:0000357	Abnormal location of ears	26040	SETBP1	ORPHA:436151
HP:0000357	Abnormal location of ears	26040	SETBP1	OMIM:616078
HP:0000357	Abnormal location of ears	11285	B4GALT7	OMIM:130070
HP:0000357	Abnormal location of ears	2072	ERCC4	OMIM:615272
HP:0000357	Abnormal location of ears	55768	NGLY1	OMIM:615273
HP:0000357	Abnormal location of ears	51633	OTUD6B	OMIM:617452
HP:0000357	Abnormal location of ears	51633	OTUD6B	ORPHA:505237
HP:0000357	Abnormal location of ears	1909	EDNRA	OMIM:616367
HP:0000357	Abnormal location of ears	5593	PRKG2	OMIM:619636
HP:0000357	Abnormal location of ears	79770	TXNDC15	OMIM:619879
HP:0000357	Abnormal location of ears	5979	RET	ORPHA:1848
HP:0000357	Abnormal location of ears	8516	ITGA8	ORPHA:1848
HP:0000357	Abnormal location of ears	8516	ITGA8	OMIM:191830
HP:0000357	Abnormal location of ears	26281	FGF20	ORPHA:1848
HP:0000357	Abnormal location of ears	2674	GFRA1	ORPHA:1848
HP:0000357	Abnormal location of ears	7484	WNT9B	ORPHA:1848
HP:0000357	Abnormal location of ears	80000	GREB1L	ORPHA:1848
HP:0000357	Abnormal location of ears	2138	EYA1	OMIM:602588
HP:0000357	Abnormal location of ears	253959	RALGAPA1	OMIM:618797
HP:0000357	Abnormal location of ears	56098	PCDHGC4	OMIM:619880
HP:0000357	Abnormal location of ears	3930	LBR	OMIM:215140
HP:0000357	Abnormal location of ears	23007	PLCH1	OMIM:619895
HP:0000357	Abnormal location of ears	23483	TGDS	OMIM:616145
HP:0000357	Abnormal location of ears	54916	TMEM260	OMIM:617478
HP:0000357	Abnormal location of ears	25836	NIPBL	OMIM:122470
HP:0000357	Abnormal location of ears	23499	MACF1	OMIM:618325
HP:0000357	Abnormal location of ears	6135	RPL11	ORPHA:124
HP:0000357	Abnormal location of ears	6138	RPL15	ORPHA:124
HP:0000357	Abnormal location of ears	6229	RPS24	ORPHA:124
HP:0000357	Abnormal location of ears	6125	RPL5	ORPHA:124
HP:0000357	Abnormal location of ears	6204	RPS10	ORPHA:124
HP:0000357	Abnormal location of ears	6224	RPS20	ORPHA:124
HP:0000357	Abnormal location of ears	6165	RPL35A	ORPHA:124
HP:0000357	Abnormal location of ears	6165	RPL35A	OMIM:612528
HP:0000357	Abnormal location of ears	2623	GATA1	ORPHA:124
HP:0000357	Abnormal location of ears	6223	RPS19	ORPHA:124
HP:0000357	Abnormal location of ears	6232	RPS27	ORPHA:124
HP:0000357	Abnormal location of ears	11224	RPL35	ORPHA:124
HP:0000357	Abnormal location of ears	6160	RPL31	ORPHA:124
HP:0000357	Abnormal location of ears	6218	RPS17	ORPHA:124
HP:0000357	Abnormal location of ears	6201	RPS7	ORPHA:124
HP:0000357	Abnormal location of ears	6155	RPL27	ORPHA:124
HP:0000357	Abnormal location of ears	6154	RPL26	ORPHA:124
HP:0000357	Abnormal location of ears	6210	RPS15A	ORPHA:124
HP:0000357	Abnormal location of ears	90121	TSR2	ORPHA:124
HP:0000357	Abnormal location of ears	6141	RPL18	ORPHA:124
HP:0000357	Abnormal location of ears	6235	RPS29	ORPHA:124
HP:0000357	Abnormal location of ears	51816	ADA2	ORPHA:124
HP:0000357	Abnormal location of ears	404672	GTF2H5	OMIM:616395
HP:0000357	Abnormal location of ears	1387	CREBBP	OMIM:618332
HP:0000357	Abnormal location of ears	1387	CREBBP	OMIM:180849
HP:0000357	Abnormal location of ears	1387	CREBBP	ORPHA:353277
HP:0000357	Abnormal location of ears	1917	EEF1A2	OMIM:616393
HP:0000357	Abnormal location of ears	54101	RIPK4	OMIM:263650
HP:0000357	Abnormal location of ears	60529	ALX4	ORPHA:228390
HP:0000357	Abnormal location of ears	60529	ALX4	OMIM:613451
HP:0000357	Abnormal location of ears	26173	INTS1	OMIM:618571
HP:0000357	Abnormal location of ears	256297	PTF1A	ORPHA:65288
HP:0000357	Abnormal location of ears	256297	PTF1A	OMIM:609069
HP:0000357	Abnormal location of ears	1523	CUX1	OMIM:618330
HP:0000357	Abnormal location of ears	4212	MEIS2	ORPHA:261190
HP:0000357	Abnormal location of ears	4212	MEIS2	OMIM:600987
HP:0000357	Abnormal location of ears	1642	DDB1	OMIM:619426
HP:0000357	Abnormal location of ears	5813	PURA	ORPHA:314655
HP:0000357	Abnormal location of ears	7291	TWIST1	ORPHA:794
HP:0000357	Abnormal location of ears	7291	TWIST1	OMIM:101400
HP:0000357	Abnormal location of ears	7291	TWIST1	OMIM:617746
HP:0000357	Abnormal location of ears	2261	FGFR3	ORPHA:794
HP:0000357	Abnormal location of ears	2261	FGFR3	ORPHA:2363
HP:0000357	Abnormal location of ears	51574	LARP7	OMIM:615071
HP:0000357	Abnormal location of ears	51574	LARP7	ORPHA:319671
HP:0000357	Abnormal location of ears	2187	FANCB	OMIM:300514
HP:0000357	Abnormal location of ears	8473	OGT	OMIM:300997
HP:0000357	Abnormal location of ears	54517	PUS7	OMIM:618342
HP:0000357	Abnormal location of ears	51259	TMEM216	OMIM:608091
HP:0000357	Abnormal location of ears	56623	INPP5E	OMIM:213300
HP:0000357	Abnormal location of ears	56623	INPP5E	ORPHA:1454
HP:0000357	Abnormal location of ears	56623	INPP5E	ORPHA:475
HP:0000357	Abnormal location of ears	4703	NEB	OMIM:256030
HP:0000357	Abnormal location of ears	4703	NEB	ORPHA:171433
HP:0000357	Abnormal location of ears	4703	NEB	ORPHA:171430
HP:0000357	Abnormal location of ears	2972	BRF1	ORPHA:444072
HP:0000357	Abnormal location of ears	2972	BRF1	OMIM:616202
HP:0000357	Abnormal location of ears	91754	NEK9	OMIM:617022
HP:0000357	Abnormal location of ears	5649	RELN	ORPHA:89844
HP:0000357	Abnormal location of ears	10300	KATNB1	ORPHA:89844
HP:0000357	Abnormal location of ears	54820	NDE1	ORPHA:89844
HP:0000357	Abnormal location of ears	6492	SIM1	ORPHA:171829
HP:0000357	Abnormal location of ears	114803	MYSM1	OMIM:618116
HP:0000357	Abnormal location of ears	51114	ZDHHC9	ORPHA:776
HP:0000357	Abnormal location of ears	65109	UPF3B	ORPHA:776
HP:0000357	Abnormal location of ears	55777	MBD5	OMIM:156200
HP:0000357	Abnormal location of ears	22930	RAB3GAP1	OMIM:600118
HP:0000357	Abnormal location of ears	3643	INSR	OMIM:246200
HP:0000357	Abnormal location of ears	3643	INSR	ORPHA:508
HP:0000357	Abnormal location of ears	1312	COMT	ORPHA:567
HP:0000357	Abnormal location of ears	221037	JMJD1C	ORPHA:567
HP:0000357	Abnormal location of ears	2812	GP1BB	ORPHA:567
HP:0000357	Abnormal location of ears	6239	RREB1	ORPHA:567
HP:0000357	Abnormal location of ears	6899	TBX1	ORPHA:567
HP:0000357	Abnormal location of ears	6899	TBX1	OMIM:188400
HP:0000357	Abnormal location of ears	7290	HIRA	ORPHA:567
HP:0000357	Abnormal location of ears	9632	SEC24C	ORPHA:567
HP:0000357	Abnormal location of ears	7353	UFD1	ORPHA:567
HP:0000357	Abnormal location of ears	421	ARVCF	ORPHA:567
HP:0000357	Abnormal location of ears	7703	PCGF2	OMIM:618371
HP:0000357	Abnormal location of ears	23111	SPART	ORPHA:101000
HP:0000357	Abnormal location of ears	51729	WBP11	OMIM:619227
HP:0000357	Abnormal location of ears	50801	KCNK4	OMIM:618381
HP:0000357	Abnormal location of ears	8943	AP3D1	OMIM:617050
HP:0000357	Abnormal location of ears	64840	PORCN	ORPHA:2092
HP:0000357	Abnormal location of ears	64840	PORCN	OMIM:305600
HP:0000357	Abnormal location of ears	348180	CTU2	OMIM:618142
HP:0000357	Abnormal location of ears	92002	CCNQ	OMIM:300707
HP:0000357	Abnormal location of ears	10283	CWC27	ORPHA:166035
HP:0000357	Abnormal location of ears	10283	CWC27	OMIM:250410
HP:0000357	Abnormal location of ears	5728	PTEN	ORPHA:744
HP:0000357	Abnormal location of ears	5728	PTEN	ORPHA:79076
HP:0000357	Abnormal location of ears	207	AKT1	ORPHA:744
HP:0000357	Abnormal location of ears	1457	CSNK2A1	OMIM:617062
HP:0000357	Abnormal location of ears	6872	TAF1	OMIM:300966
HP:0000357	Abnormal location of ears	6872	TAF1	ORPHA:480907
HP:0000357	Abnormal location of ears	8567	MADD	OMIM:619004
HP:0000357	Abnormal location of ears	91875	TTC5	OMIM:619244
HP:0000357	Abnormal location of ears	2799	GNS	OMIM:252940
HP:0000357	Abnormal location of ears	199221	DZIP1L	ORPHA:731
HP:0000357	Abnormal location of ears	5314	PKHD1	ORPHA:731
HP:0000357	Abnormal location of ears	7169	TPM2	OMIM:108120
HP:0000357	Abnormal location of ears	403	ARL3	OMIM:618161
HP:0000357	Abnormal location of ears	403	ARL3	ORPHA:475
HP:0000357	Abnormal location of ears	80267	EDEM3	OMIM:619493
HP:0000357	Abnormal location of ears	84231	TRAF7	OMIM:618164
HP:0000357	Abnormal location of ears	89970	RSPRY1	ORPHA:457395
HP:0000357	Abnormal location of ears	89970	RSPRY1	OMIM:616723
HP:0000357	Abnormal location of ears	51360	MBTPS2	ORPHA:85284
HP:0000357	Abnormal location of ears	5557	PRIM1	OMIM:620005
HP:0000357	Abnormal location of ears	10020	GNE	ORPHA:3166
HP:0000357	Abnormal location of ears	10020	GNE	OMIM:269921
HP:0000357	Abnormal location of ears	219844	HYLS1	OMIM:236680
HP:0000357	Abnormal location of ears	219844	HYLS1	ORPHA:475
HP:0000357	Abnormal location of ears	219844	HYLS1	ORPHA:2189
HP:0000357	Abnormal location of ears	9897	WASHC5	ORPHA:7
HP:0000357	Abnormal location of ears	9897	WASHC5	OMIM:220210
HP:0000357	Abnormal location of ears	28952	CCDC22	ORPHA:7
HP:0000357	Abnormal location of ears	51626	DYNC2LI1	OMIM:617088
HP:0000357	Abnormal location of ears	118429	ANTXR2	OMIM:228600
HP:0000357	Abnormal location of ears	51109	RDH11	ORPHA:436245
HP:0000357	Abnormal location of ears	84168	ANTXR1	ORPHA:2067
HP:0000357	Abnormal location of ears	27445	PCLO	OMIM:608027
HP:0000357	Abnormal location of ears	168667	BMPER	OMIM:608022
HP:0000357	Abnormal location of ears	2294	FOXF1	OMIM:265380
HP:0000357	Abnormal location of ears	5393	EXOSC9	OMIM:618065
HP:0000357	Abnormal location of ears	26128	KIFBP	OMIM:609460
HP:0000357	Abnormal location of ears	5885	RAD21	OMIM:614701
HP:0000357	Abnormal location of ears	57539	WDR35	OMIM:613610
HP:0000357	Abnormal location of ears	781	CACNA2D1	OMIM:620149
HP:0000357	Abnormal location of ears	80144	FRAS1	OMIM:219000
HP:0000357	Abnormal location of ears	5447	POR	ORPHA:95699
HP:0000357	Abnormal location of ears	5447	POR	OMIM:201750
HP:0000357	Abnormal location of ears	89910	UBE3B	OMIM:244450
HP:0000357	Abnormal location of ears	51506	UFC1	OMIM:618076
HP:0000357	Abnormal location of ears	4010	LMX1B	ORPHA:495818
HP:0000357	Abnormal location of ears	6812	STXBP1	ORPHA:495818
HP:0000357	Abnormal location of ears	55788	LMBRD1	OMIM:277380
HP:0000357	Abnormal location of ears	26153	KIF26A	OMIM:620156
HP:0000357	Abnormal location of ears	1301	COL11A1	OMIM:154780
HP:0000357	Abnormal location of ears	1301	COL11A1	OMIM:228520
HP:0000357	Abnormal location of ears	1301	COL11A1	ORPHA:2021
HP:0000357	Abnormal location of ears	56992	KIF15	ORPHA:261323
HP:0000357	Abnormal location of ears	1801	DPH1	OMIM:616901
HP:0000357	Abnormal location of ears	1801	DPH1	ORPHA:459061
HP:0000357	Abnormal location of ears	114034	TOE1	OMIM:614969
HP:0000357	Abnormal location of ears	1509	CTSD	OMIM:610127
HP:0000357	Abnormal location of ears	23325	WASHC4	OMIM:615817
HP:0000357	Abnormal location of ears	9896	FIG4	ORPHA:3472
HP:0000357	Abnormal location of ears	9896	FIG4	OMIM:216340
HP:0000357	Abnormal location of ears	55697	VAC14	ORPHA:3472
HP:0000357	Abnormal location of ears	23036	ZNF292	OMIM:619188
HP:0000357	Abnormal location of ears	55148	UBR7	OMIM:619189
HP:0000357	Abnormal location of ears	23545	ATP6V0A2	OMIM:278250
HP:0000357	Abnormal location of ears	23545	ATP6V0A2	OMIM:219200
HP:0000357	Abnormal location of ears	23545	ATP6V0A2	ORPHA:2834
HP:0000357	Abnormal location of ears	23545	ATP6V0A2	ORPHA:357074
HP:0000357	Abnormal location of ears	79867	TCTN2	OMIM:613885
HP:0000357	Abnormal location of ears	79867	TCTN2	ORPHA:475
HP:0000357	Abnormal location of ears	55636	CHD7	OMIM:214800
HP:0000357	Abnormal location of ears	1028	CDKN1C	OMIM:614732
HP:0000357	Abnormal location of ears	1028	CDKN1C	ORPHA:85173
HP:0000357	Abnormal location of ears	1028	CDKN1C	ORPHA:397590
HP:0000357	Abnormal location of ears	63894	VIPAS39	OMIM:613404
HP:0000357	Abnormal location of ears	83879	CDCA7	OMIM:616910
HP:0000357	Abnormal location of ears	83879	CDCA7	ORPHA:2268
HP:0000357	Abnormal location of ears	79053	ALG8	OMIM:608104
HP:0000357	Abnormal location of ears	79053	ALG8	ORPHA:79325
HP:0000357	Abnormal location of ears	54084	TSPEAR	OMIM:620173
HP:0000357	Abnormal location of ears	10801	SEPTIN9	OMIM:162100
HP:0000357	Abnormal location of ears	9508	ADAMTS3	ORPHA:2136
HP:0000357	Abnormal location of ears	147372	CCBE1	ORPHA:2136
HP:0000357	Abnormal location of ears	147372	CCBE1	OMIM:235510
HP:0000357	Abnormal location of ears	79633	FAT4	ORPHA:2136
HP:0000357	Abnormal location of ears	26053	AUTS2	OMIM:615834
HP:0000357	Abnormal location of ears	26053	AUTS2	ORPHA:352490
HP:0000357	Abnormal location of ears	10013	HDAC6	ORPHA:163966
HP:0000357	Abnormal location of ears	10013	HDAC6	OMIM:300863
HP:0000357	Abnormal location of ears	23137	SMC5	OMIM:620185
HP:0000357	Abnormal location of ears	8481	OFD1	OMIM:311200
HP:0000357	Abnormal location of ears	8481	OFD1	OMIM:300804
HP:0000357	Abnormal location of ears	8481	OFD1	OMIM:300209
HP:0000357	Abnormal location of ears	182	JAG1	OMIM:118450
HP:0000357	Abnormal location of ears	10472	ZBTB18	OMIM:612337
HP:0000357	Abnormal location of ears	10472	ZBTB18	ORPHA:36367
HP:0000357	Abnormal location of ears	2255	FGF10	ORPHA:2363
HP:0000357	Abnormal location of ears	158	ADSL	ORPHA:46
HP:0000357	Abnormal location of ears	158	ADSL	OMIM:103050
HP:0000357	Abnormal location of ears	9652	SKIC3	OMIM:222470
HP:0000357	Abnormal location of ears	55835	CENPJ	OMIM:613676
HP:0000357	Abnormal location of ears	64116	SLC39A8	ORPHA:468699
HP:0000357	Abnormal location of ears	3166	HMX1	OMIM:612109
HP:0000357	Abnormal location of ears	6509	SLC1A4	ORPHA:447997
HP:0000357	Abnormal location of ears	4208	MEF2C	OMIM:613443
HP:0000357	Abnormal location of ears	7407	VARS1	OMIM:617802
HP:0000357	Abnormal location of ears	10535	RNASEH2A	ORPHA:51
HP:0000357	Abnormal location of ears	10535	RNASEH2A	OMIM:610333
HP:0000357	Abnormal location of ears	84153	RNASEH2C	ORPHA:51
HP:0000357	Abnormal location of ears	25939	SAMHD1	ORPHA:51
HP:0000357	Abnormal location of ears	79621	RNASEH2B	ORPHA:51
HP:0000357	Abnormal location of ears	103	ADAR	ORPHA:51
HP:0000357	Abnormal location of ears	11277	TREX1	ORPHA:51
HP:0000357	Abnormal location of ears	100147744	RNU7-1	ORPHA:51
HP:0000357	Abnormal location of ears	134353	LSM11	ORPHA:51
HP:0000357	Abnormal location of ears	64135	IFIH1	ORPHA:51
HP:0000357	Abnormal location of ears	10159	ATP6AP2	OMIM:301045
HP:0000357	Abnormal location of ears	91949	COG7	OMIM:608779
HP:0000357	Abnormal location of ears	10735	STAG2	OMIM:301043
HP:0000357	Abnormal location of ears	10735	STAG2	OMIM:301022
HP:0000357	Abnormal location of ears	27238	GPKOW	ORPHA:2570
HP:0000357	Abnormal location of ears	22856	CHSY1	ORPHA:363417
HP:0000357	Abnormal location of ears	1305	COL13A1	OMIM:616720
HP:0000357	Abnormal location of ears	1305	COL13A1	ORPHA:98914
HP:0000357	Abnormal location of ears	4893	NRAS	OMIM:613224
HP:0000357	Abnormal location of ears	83479	DDX59	OMIM:174300
HP:0000357	Abnormal location of ears	169792	GLIS3	OMIM:610199
HP:0000357	Abnormal location of ears	79644	SRD5A3	OMIM:612379
HP:0000357	Abnormal location of ears	7547	ZIC3	OMIM:306955
HP:0000357	Abnormal location of ears	2239	GPC4	OMIM:301026
HP:0000357	Abnormal location of ears	57211	ADGRG6	OMIM:616503
HP:0000357	Abnormal location of ears	259232	NALCN	OMIM:615419
HP:0000357	Abnormal location of ears	3759	KCNJ2	OMIM:170390
HP:0000357	Abnormal location of ears	3759	KCNJ2	ORPHA:37553
HP:0000357	Abnormal location of ears	55764	IFT122	OMIM:218330
HP:0000357	Abnormal location of ears	10943	MSL3	OMIM:301032
HP:0000357	Abnormal location of ears	5745	PTH1R	ORPHA:50945
HP:0000357	Abnormal location of ears	8985	PLOD3	OMIM:612394
HP:0000357	Abnormal location of ears	545	ATR	OMIM:210600
HP:0000357	Abnormal location of ears	91147	TMEM67	ORPHA:1454
HP:0000357	Abnormal location of ears	91147	TMEM67	ORPHA:475
HP:0000357	Abnormal location of ears	23322	RPGRIP1L	ORPHA:1454
HP:0000357	Abnormal location of ears	57545	CC2D2A	ORPHA:1454
HP:0000357	Abnormal location of ears	55969	RAB5IF	OMIM:616994
HP:0000357	Abnormal location of ears	9343	EFTUD2	ORPHA:79113
HP:0000357	Abnormal location of ears	9343	EFTUD2	OMIM:610536
HP:0000357	Abnormal location of ears	4758	NEU1	ORPHA:93400
HP:0000357	Abnormal location of ears	4758	NEU1	ORPHA:93399
HP:0000357	Abnormal location of ears	60	ACTB	OMIM:243310
HP:0000357	Abnormal location of ears	117581	TWIST2	OMIM:209885
HP:0000357	Abnormal location of ears	117581	TWIST2	OMIM:200110
HP:0000357	Abnormal location of ears	55617	TASP1	OMIM:618950
HP:0000357	Abnormal location of ears	6182	MRPL12	OMIM:618951
HP:0000357	Abnormal location of ears	9702	CEP57	OMIM:614114
HP:0000357	Abnormal location of ears	60482	SLC5A7	ORPHA:98914
HP:0000357	Abnormal location of ears	4649	MYO9A	ORPHA:98914
HP:0000357	Abnormal location of ears	1103	CHAT	ORPHA:98914
HP:0000357	Abnormal location of ears	6576	SLC25A1	ORPHA:98914
HP:0000357	Abnormal location of ears	6843	VAMP1	ORPHA:98914
HP:0000357	Abnormal location of ears	375790	AGRN	ORPHA:98914
HP:0000357	Abnormal location of ears	127833	SYT2	ORPHA:98914
HP:0000357	Abnormal location of ears	6616	SNAP25	ORPHA:98914
HP:0000357	Abnormal location of ears	84628	NTNG2	OMIM:618718
HP:0000357	Abnormal location of ears	113246	C12orf57	OMIM:218340
HP:0000357	Abnormal location of ears	9321	TRIP11	OMIM:200600
HP:0000357	Abnormal location of ears	6651	SON	ORPHA:500150
HP:0000357	Abnormal location of ears	6651	SON	OMIM:617140
HP:0000357	Abnormal location of ears	9786	KIAA0586	OMIM:616546
HP:0000357	Abnormal location of ears	9786	KIAA0586	ORPHA:397715
HP:0000357	Abnormal location of ears	9786	KIAA0586	ORPHA:475
HP:0000357	Abnormal location of ears	1748	DLX4	OMIM:616788
HP:0000357	Abnormal location of ears	4000	LMNA	ORPHA:1662
HP:0000357	Abnormal location of ears	10269	ZMPSTE24	ORPHA:1662
HP:0000357	Abnormal location of ears	10269	ZMPSTE24	OMIM:275210
HP:0000357	Abnormal location of ears	84700	MYO18B	OMIM:616549
HP:0000357	Abnormal location of ears	23389	MED13L	OMIM:616789
HP:0000357	Abnormal location of ears	23389	MED13L	ORPHA:369891
HP:0000357	Abnormal location of ears	1146	CHRNG	ORPHA:2990
HP:0000357	Abnormal location of ears	1146	CHRNG	OMIM:265000
HP:0000357	Abnormal location of ears	1146	CHRNG	OMIM:253290
HP:0000357	Abnormal location of ears	7473	WNT3	OMIM:273395
HP:0000357	Abnormal location of ears	79583	TMEM231	ORPHA:2752
HP:0000357	Abnormal location of ears	55553	SOX6	OMIM:618971
HP:0000357	Abnormal location of ears	523	ATP6V1A	OMIM:617403
HP:0000357	Abnormal location of ears	523	ATP6V1A	ORPHA:357074
HP:0000357	Abnormal location of ears	529	ATP6V1E1	OMIM:617402
HP:0000357	Abnormal location of ears	529	ATP6V1E1	ORPHA:357074
HP:0000357	Abnormal location of ears	84148	KAT8	OMIM:618974
HP:0000357	Abnormal location of ears	246329	STAC3	OMIM:255995
HP:0000357	Abnormal location of ears	3762	KCNJ5	ORPHA:37553
HP:0000357	Abnormal location of ears	11253	MAN1B1	ORPHA:397941
HP:0000357	Abnormal location of ears	11253	MAN1B1	OMIM:614202
HP:0000357	Abnormal location of ears	10617	STAMBP	OMIM:614261
HP:0000357	Abnormal location of ears	8367	H4C5	OMIM:619950
HP:0000357	Abnormal location of ears	6016	RIT1	OMIM:615355
HP:0000357	Abnormal location of ears	10054	UBA2	OMIM:619959
HP:0000357	Abnormal location of ears	84942	WDR73	OMIM:251300
HP:0000357	Abnormal location of ears	64220	STRA6	OMIM:601186
HP:0000357	Abnormal location of ears	64220	STRA6	ORPHA:2470
HP:0000357	Abnormal location of ears	79848	CSPP1	ORPHA:397715
HP:0000357	Abnormal location of ears	79848	CSPP1	ORPHA:475
HP:0000357	Abnormal location of ears	6536	SLC6A9	OMIM:617301
HP:0000357	Abnormal location of ears	1723	DHODH	OMIM:263750
HP:0000357	Abnormal location of ears	5830	PEX5	OMIM:202370
HP:0000357	Abnormal location of ears	28960	DCPS	OMIM:616459
HP:0000357	Abnormal location of ears	23384	SPECC1L	ORPHA:1519
HP:0000357	Abnormal location of ears	54	ACP5	OMIM:607944
HP:0000357	Abnormal location of ears	55870	ASH1L	OMIM:617796
HP:0000357	Abnormal location of ears	4853	NOTCH2	OMIM:102500
HP:0000357	Abnormal location of ears	4853	NOTCH2	ORPHA:955
HP:0000357	Abnormal location of ears	10381	TUBB3	ORPHA:300570
HP:0000357	Abnormal location of ears	79184	BRCC3	ORPHA:280679
HP:0000357	Abnormal location of ears	2626	GATA4	ORPHA:251071
HP:0000357	Abnormal location of ears	8726	EED	OMIM:617561
HP:0000357	Abnormal location of ears	54968	TMEM70	OMIM:614052
HP:0000357	Abnormal location of ears	54968	TMEM70	ORPHA:1194
HP:0000357	Abnormal location of ears	22884	WDR37	OMIM:618652
HP:0000357	Abnormal location of ears	1656	DDX6	OMIM:618653
HP:0000357	Abnormal location of ears	4297	KMT2A	ORPHA:319182
HP:0000357	Abnormal location of ears	4297	KMT2A	OMIM:605130
HP:0000357	Abnormal location of ears	55714	TENM3	OMIM:615145
HP:0000357	Abnormal location of ears	4174	MCM5	OMIM:617564
HP:0000357	Abnormal location of ears	84314	TMEM107	OMIM:617563
HP:0000357	Abnormal location of ears	57178	ZMIZ1	OMIM:618659
HP:0000357	Abnormal location of ears	2783	GNB2	OMIM:619503
HP:0000357	Abnormal location of ears	55623	THUMPD1	OMIM:619989
HP:0000357	Abnormal location of ears	3476	IGBP1	ORPHA:52055
HP:0000357	Abnormal location of ears	3476	IGBP1	OMIM:300472
HP:0000357	Abnormal location of ears	79600	TCTN1	ORPHA:475
HP:0000357	Abnormal location of ears	51684	SUFU	ORPHA:475
HP:0000357	Abnormal location of ears	54806	AHI1	ORPHA:475
HP:0000357	Abnormal location of ears	54806	AHI1	OMIM:608629
HP:0000357	Abnormal location of ears	153241	CEP120	ORPHA:475
HP:0000357	Abnormal location of ears	200894	ARL13B	ORPHA:475
HP:0000357	Abnormal location of ears	9731	CEP104	ORPHA:475
HP:0000357	Abnormal location of ears	23247	KATNIP	ORPHA:475
HP:0000357	Abnormal location of ears	219854	TMEM218	ORPHA:475
HP:0000357	Abnormal location of ears	54903	MKS1	ORPHA:475
HP:0000357	Abnormal location of ears	54903	MKS1	OMIM:249000
HP:0000357	Abnormal location of ears	95681	CEP41	ORPHA:475
HP:0000357	Abnormal location of ears	80776	B9D2	ORPHA:475
HP:0000357	Abnormal location of ears	10464	PIBF1	ORPHA:475
HP:0000357	Abnormal location of ears	80210	ARMC9	ORPHA:475
HP:0000357	Abnormal location of ears	25776	CBY1	ORPHA:475
HP:0000357	Abnormal location of ears	27077	B9D1	ORPHA:475
HP:0000357	Abnormal location of ears	1789	DNMT3B	OMIM:242860
HP:0000357	Abnormal location of ears	1789	DNMT3B	ORPHA:2268
HP:0000357	Abnormal location of ears	8260	NAA10	OMIM:309800
HP:0000357	Abnormal location of ears	8260	NAA10	OMIM:300855
HP:0000357	Abnormal location of ears	8260	NAA10	ORPHA:276432
HP:0000357	Abnormal location of ears	51604	PIGT	OMIM:615398
HP:0000357	Abnormal location of ears	51604	PIGT	ORPHA:369837
HP:0000357	Abnormal location of ears	7862	BRPF1	OMIM:617333
HP:0000357	Abnormal location of ears	5048	PAFAH1B1	ORPHA:217385
HP:0000357	Abnormal location of ears	7531	YWHAE	ORPHA:217385
HP:0000357	Abnormal location of ears	3481	IGF2	OMIM:616489
HP:0000357	Abnormal location of ears	3481	IGF2	ORPHA:397590
HP:0000357	Abnormal location of ears	9841	ZBTB24	OMIM:614069
HP:0000357	Abnormal location of ears	9841	ZBTB24	ORPHA:2268
HP:0000357	Abnormal location of ears	8364	H4C3	OMIM:619758
HP:0000357	Abnormal location of ears	8314	BAP1	OMIM:619762
HP:0000357	Abnormal location of ears	51098	IFT52	OMIM:617102
HP:0000357	Abnormal location of ears	53335	BCL11A	OMIM:617101
HP:0000357	Abnormal location of ears	4849	CNOT3	OMIM:618672
HP:0000357	Abnormal location of ears	9928	KIF14	OMIM:616258
HP:0000357	Abnormal location of ears	2542	SLC37A4	OMIM:619525
HP:0000357	Abnormal location of ears	9562	MINPP1	OMIM:619527
HP:0000357	Abnormal location of ears	2683	B4GALT1	ORPHA:79332
HP:0000357	Abnormal location of ears	2556	GABRA3	OMIM:301091
HP:0000357	Abnormal location of ears	57724	EPG5	OMIM:242840
HP:0000357	Abnormal location of ears	23162	MAPK8IP3	OMIM:618443
HP:0000357	Abnormal location of ears	55120	FANCL	OMIM:614083
HP:0000357	Abnormal location of ears	79989	IFT56	OMIM:619534
HP:0000357	Abnormal location of ears	9319	TRIP13	OMIM:617598
HP:0000357	Abnormal location of ears	85365	ALG2	OMIM:607906
HP:0000357	Abnormal location of ears	57479	PRR12	OMIM:619539
HP:0000357	Abnormal location of ears	2006	ELN	ORPHA:90348
HP:0000357	Abnormal location of ears	10516	FBLN5	ORPHA:90348
HP:0000357	Abnormal location of ears	5832	ALDH18A1	ORPHA:90348
HP:0000357	Abnormal location of ears	5832	ALDH18A1	OMIM:219150
HP:0000357	Abnormal location of ears	5832	ALDH18A1	OMIM:616603
HP:0000357	Abnormal location of ears	1107	CHD3	OMIM:618205
HP:0000357	Abnormal location of ears	7476	WNT7A	OMIM:276820
HP:0000357	Abnormal location of ears	29929	ALG6	ORPHA:79320
HP:0000357	Abnormal location of ears	54361	WNT4	OMIM:611812
HP:0000357	Abnormal location of ears	257	ALX3	OMIM:136760
HP:0000357	Abnormal location of ears	6261	RYR1	OMIM:619542
HP:0000357	Abnormal location of ears	3658	IREB2	OMIM:618451
HP:0000357	Abnormal location of ears	29968	PSAT1	OMIM:616038
HP:0000357	Abnormal location of ears	58497	PRUNE1	ORPHA:544469
HP:0000357	Abnormal location of ears	55770	EXOC2	OMIM:619306
HP:0000357	Abnormal location of ears	6909	TBX2	OMIM:618223
HP:0000357	Abnormal location of ears	23013	SPEN	OMIM:619312
HP:0000357	Abnormal location of ears	5631	PRPS1	ORPHA:423479
HP:0000357	Abnormal location of ears	5631	PRPS1	OMIM:300661
HP:0000357	Abnormal location of ears	79868	ALG13	OMIM:300884
HP:0000357	Abnormal location of ears	2710	GK	OMIM:307030
HP:0000357	Abnormal location of ears	1725	DHPS	OMIM:618480
HP:0000357	Abnormal location of ears	57551	TAOK1	OMIM:619575
HP:0000357	Abnormal location of ears	1108	CHD4	OMIM:617159
HP:0000357	Abnormal location of ears	1147	CHUK	OMIM:619339
HP:0000357	Abnormal location of ears	29920	PYCR2	ORPHA:481152
HP:0000357	Abnormal location of ears	29920	PYCR2	OMIM:616420
HP:0000357	Abnormal location of ears	9509	ADAMTS2	OMIM:225410
HP:0000357	Abnormal location of ears	26276	VPS33B	OMIM:208085
HP:0000357	Abnormal location of ears	10524	KAT5	OMIM:619103
HP:0000357	Abnormal location of ears	3977	LIFR	OMIM:601559
HP:0000357	Abnormal location of ears	9244	CRLF1	OMIM:272430
HP:0000357	Abnormal location of ears	6611	SMS	ORPHA:3063
HP:0000357	Abnormal location of ears	57003	CCDC47	OMIM:618268
HP:0000357	Abnormal location of ears	340419	RSPO2	OMIM:618021
HP:0000357	Abnormal location of ears	79005	SCNM1	OMIM:620107
HP:0000357	Abnormal location of ears	526	ATP6V1B2	ORPHA:79500
HP:0000357	Abnormal location of ears	57465	TBC1D24	ORPHA:79500
HP:0000357	Abnormal location of ears	57465	TBC1D24	OMIM:220500
HP:0000357	Abnormal location of ears	10653	SPINT2	OMIM:270420
HP:0000357	Abnormal location of ears	2571	GAD1	OMIM:619124
HP:0000357	Abnormal location of ears	285590	SH3PXD2B	OMIM:249420
HP:0000357	Abnormal location of ears	51715	RAB23	OMIM:201000
HP:0000357	Abnormal location of ears	22995	CEP152	OMIM:613823
HP:0000357	Abnormal location of ears	1759	DNM1	OMIM:620352
HP:0000357	Abnormal location of ears	2177	FANCD2	OMIM:227646
HP:0000357	Abnormal location of ears	5528	PPP2R5D	ORPHA:457279
HP:0000357	Abnormal location of ears	1984	EIF5A	OMIM:619376
HP:0000357	Abnormal location of ears	2733	GLE1	OMIM:611890
HP:0000357	Abnormal location of ears	3295	HSD17B4	OMIM:261515
HP:0000357	Abnormal location of ears	5727	PTCH1	ORPHA:77301
HP:0000357	Abnormal location of ears	129285	PPP1R21	OMIM:619383
HP:0000357	Abnormal location of ears	221692	PHACTR1	OMIM:618298
HP:0000357	Abnormal location of ears	3480	IGF1R	OMIM:270450
HP:0000357	Abnormal location of ears	83483	PLVAP	OMIM:618183
HP:0000357	Abnormal location of ears	10128	LRPPRC	OMIM:220111
HP:0000357	Abnormal location of ears	9131	AIFM1	OMIM:300232
HP:0000357	Abnormal location of ears	8506	CNTNAP1	OMIM:618186
HP:0000357	Abnormal location of ears	55503	TRPV6	OMIM:618188
HP:0000357	Abnormal location of ears	5894	RAF1	OMIM:611554
HP:0000357	Abnormal location of ears	5894	RAF1	OMIM:611553
HP:0000357	Abnormal location of ears	775	CACNA1C	OMIM:620029
HP:0000357	Abnormal location of ears	8854	ALDH1A2	OMIM:620025
HP:0000357	Abnormal location of ears	10274	STAG1	ORPHA:502434
HP:0000357	Abnormal location of ears	4774	NFIA	OMIM:613735
HP:0000357	Abnormal location of ears	118987	PDZD8	OMIM:620021
HP:0000357	Abnormal location of ears	2629	GBA1	OMIM:608013
HP:0000357	Abnormal location of ears	23118	TAB2	ORPHA:228410
HP:0000357	Abnormal location of ears	58	ACTA1	ORPHA:171433
HP:0000357	Abnormal location of ears	58	ACTA1	ORPHA:171430
HP:0000357	Abnormal location of ears	10324	KLHL41	ORPHA:171433
HP:0000357	Abnormal location of ears	10324	KLHL41	ORPHA:171430
HP:0000357	Abnormal location of ears	7170	TPM3	ORPHA:171433
HP:0000357	Abnormal location of ears	2317	FLNB	ORPHA:1190
HP:0000357	Abnormal location of ears	2317	FLNB	OMIM:108720
HP:0000357	Abnormal location of ears	9442	MED27	OMIM:619286
HP:0000357	Abnormal location of ears	131377	KLHL40	ORPHA:171430
HP:0000357	Abnormal location of ears	56203	LMOD3	ORPHA:171430
HP:0000357	Abnormal location of ears	22858	CILK1	OMIM:612651
HP:0000357	Abnormal location of ears	56262	LRRC8A	OMIM:613506
HP:0000357	Abnormal location of ears	170302	ARX	OMIM:300215
HP:0000357	Abnormal location of ears	3899	AFF3	OMIM:619297
HP:0000357	Abnormal location of ears	9739	SETD1A	OMIM:619056
HP:0000357	Abnormal location of ears	55107	ANO1	OMIM:620045
HP:0000357	Abnormal location of ears	4524	MTHFR	ORPHA:563612
HP:0000357	Abnormal location of ears	57216	VANGL2	ORPHA:563612
HP:0000357	Abnormal location of ears	3070	HELLS	ORPHA:2268
HP:0000357	Abnormal location of ears	10352	WARS2	ORPHA:572798
HP:0000357	Abnormal location of ears	51021	MRPS16	OMIM:610498
HP:0000357	Abnormal location of ears	2752	GLUL	OMIM:610015
HP:0000357	Abnormal location of ears	657	BMPR1A	ORPHA:79076
HP:0000357	Abnormal location of ears	5193	PEX12	OMIM:614859
HP:0000357	Abnormal location of ears	2697	GJA1	OMIM:257850
HP:0000357	Abnormal location of ears	26227	PHGDH	OMIM:256520
HP:0000357	Abnormal location of ears	23265	EXOC7	OMIM:619072
HP:0000357	Abnormal location of ears	1802	DPH2	OMIM:620062
HP:0000357	Abnormal location of ears	5828	PEX2	OMIM:614866
HP:0000357	Abnormal location of ears	55165	CEP55	OMIM:236500
HP:0000357	Abnormal location of ears	55027	HEATR3	OMIM:620072
HP:0000357	Abnormal location of ears	6558	SLC12A2	OMIM:619080
HP:0000357	Abnormal location of ears	4089	SMAD4	OMIM:139210
HP:0000357	Abnormal location of ears	5192	PEX10	OMIM:614870
HP:0000357	Abnormal location of ears	5324	PLAG1	ORPHA:397590
HP:0000357	Abnormal location of ears	8091	HMGA2	ORPHA:397590
HP:0000357	Abnormal location of ears	5591	PRKDC	OMIM:615966
HP:0000357	Abnormal location of ears	471	ATIC	OMIM:608688
HP:0000357	Abnormal location of ears	471	ATIC	ORPHA:250977
HP:0000357	Abnormal location of ears	668	FOXL2	ORPHA:572333
HP:0000357	Abnormal location of ears	10430	TMEM147	OMIM:620075
HP:0000357	Abnormal location of ears	3187	HNRNPH1	OMIM:620083
HP:0000357	Abnormal location of ears	5295	PIK3R1	OMIM:269880
HP:0000357	Abnormal location of ears	4677	NARS1	OMIM:619092
HP:0000357	Abnormal location of ears	5915	RARB	ORPHA:2470
HP:0000357	Abnormal location of ears	3954	LETM1	OMIM:620089
HP:0000357	Abnormal location of ears	9775	EIF4A3	OMIM:268305
HP:0000357	Abnormal location of ears	667	DST	OMIM:614653
HP:0000357	Abnormal location of ears	2702	GJA5	OMIM:612474
HP:0000357	Abnormal location of ears	2703	GJA8	OMIM:612474
HP:0000357	Abnormal location of ears	51025	PAM16	OMIM:613320
HP:0000357	Abnormal location of ears	27152	INTU	OMIM:617925
HP:0000357	Abnormal location of ears	27152	INTU	OMIM:617926
HP:0000357	Abnormal location of ears	1144	CHRND	OMIM:253290
HP:0000357	Abnormal location of ears	1134	CHRNA1	OMIM:253290
HP:0000357	Abnormal location of ears	6888	TALDO1	OMIM:606003
HP:0000357	Abnormal location of ears	3720	JARID2	OMIM:620098
HP:0000357	Abnormal location of ears	9698	PUM1	OMIM:617931
HP:0000357	Abnormal location of ears	113179	ADAT3	ORPHA:363528
HP:0000357	Abnormal location of ears	79631	EFL1	OMIM:617941
HP:0000357	Abnormal location of ears	55784	MCTP2	ORPHA:1596
HP:0000357	Abnormal location of ears	30008	EFEMP2	OMIM:614437
HP:0000357	Abnormal location of ears	2720	GLB1	ORPHA:79255
HP:0000357	Abnormal location of ears	51116	MRPS2	OMIM:617950
HP:0000357	Abnormal location of ears	10265	IRX5	OMIM:611174
HP:0000357	Abnormal location of ears	5925	RB1	ORPHA:1587
HP:0000357	Abnormal location of ears	23511	NUP188	OMIM:618804
HP:0000357	Abnormal location of ears	7874	USP7	OMIM:616863
HP:0000357	Abnormal location of ears	1063	CENPF	OMIM:243605
HP:0000357	Abnormal location of ears	54551	MAGEL2	OMIM:615547
HP:0000357	Abnormal location of ears	55644	OSGEP	OMIM:617729
HP:0000357	Abnormal location of ears	57572	DOCK6	OMIM:614219
HP:0000357	Abnormal location of ears	29980	DONSON	OMIM:251230
HP:0000357	Abnormal location of ears	4659	PPP1R12A	OMIM:618820
HP:0000357	Abnormal location of ears	490	ATP2B1	OMIM:619910
HP:0000357	Abnormal location of ears	54870	QRICH1	OMIM:617982
HP:0000357	Abnormal location of ears	5075	PAX1	OMIM:615560
HP:0000357	Abnormal location of ears	54676	GTPBP2	OMIM:617988
HP:0000357	Abnormal location of ears	100506658	OCLN	OMIM:251290
HP:0000357	Abnormal location of ears	9320	TRIP12	OMIM:617752
HP:0000357	Abnormal location of ears	5879	RAC1	OMIM:617751
HP:0000357	Abnormal location of ears	5116	PCNT	ORPHA:2637
HP:0000357	Abnormal location of ears	25974	MMACHC	ORPHA:79282
HP:0000357	Abnormal location of ears	25974	MMACHC	OMIM:277400
HP:0000357	Abnormal location of ears	5718	PSMD12	OMIM:617516
HP:0000357	Abnormal location of ears	10584	COLEC10	ORPHA:293843
HP:0000357	Abnormal location of ears	5648	MASP1	ORPHA:293843
HP:0000357	Abnormal location of ears	78989	COLEC11	ORPHA:293843
HP:0000357	Abnormal location of ears	4848	CNOT2	OMIM:618608
HP:0000357	Abnormal location of ears	9469	CHST3	OMIM:245600
HP:0000357	Abnormal location of ears	26229	B3GAT3	OMIM:245600
HP:0000357	Abnormal location of ears	4204	MECP2	OMIM:300260
HP:0000357	Abnormal location of ears	5307	PITX1	OMIM:119800
HP:0000357	Abnormal location of ears	55331	ACER3	OMIM:617762
HP:0000357	Abnormal location of ears	92935	MARS2	OMIM:616430
HP:0000357	Abnormal location of ears	58499	ZNF462	OMIM:618619
HP:0000357	Abnormal location of ears	5052	PRDX1	OMIM:277400
HP:0000357	Abnormal location of ears	5604	MAP2K1	OMIM:163950
HP:0000357	Abnormal location of ears	26137	ZBTB20	OMIM:259050
HP:0000357	Abnormal location of ears	7994	KAT6A	OMIM:616268
HP:0000357	Abnormal location of ears	284252	KCTD1	OMIM:181270
HP:0000357	Abnormal location of ears	284058	KANSL1	OMIM:610443
HP:0000357	Abnormal location of ears	3149	HMGB3	OMIM:300915
HP:0000357	Abnormal location of ears	54880	BCOR	OMIM:300166
HP:0000357	Abnormal location of ears	6134	RPL10	ORPHA:459070
HP:0000357	Abnormal location of ears	5087	PBX1	OMIM:617641
HP:0000357	Abnormal location of ears	80185	TTI2	OMIM:615541
HP:0000357	Abnormal location of ears	8913	CACNA1G	OMIM:618087
HP:0000357	Abnormal location of ears	8831	SYNGAP1	ORPHA:544254
HP:0000357	Abnormal location of ears	2248	FGF3	OMIM:610706
HP:0000357	Abnormal location of ears	5396	PRRX1	OMIM:202650
HP:0000357	Abnormal location of ears	5396	PRRX1	ORPHA:990
HP:0000357	Abnormal location of ears	5015	OTX2	ORPHA:990
HP:0000359	Abnormality of the inner ear	8626	TP63	ORPHA:1896
HP:0000359	Abnormality of the inner ear	7399	USH2A	ORPHA:231178
HP:0000359	Abnormality of the inner ear	79955	PDZD7	ORPHA:231178
HP:0000359	Abnormality of the inner ear	4647	MYO7A	ORPHA:231178
HP:0000359	Abnormality of the inner ear	25861	WHRN	ORPHA:231178
HP:0000359	Abnormality of the inner ear	84059	ADGRV1	ORPHA:231178
HP:0000359	Abnormality of the inner ear	152137	CCDC50	OMIM:607453
HP:0000359	Abnormality of the inner ear	1678	TIMM8A	ORPHA:52368
HP:0000359	Abnormality of the inner ear	64072	CDH23	ORPHA:231169
HP:0000359	Abnormality of the inner ear	10083	USH1C	ORPHA:231169
HP:0000359	Abnormality of the inner ear	124590	USH1G	ORPHA:231169
HP:0000359	Abnormality of the inner ear	83715	ESPN	ORPHA:231169
HP:0000359	Abnormality of the inner ear	10518	CIB2	ORPHA:231169
HP:0000359	Abnormality of the inner ear	65217	PCDH15	ORPHA:231169
HP:0000359	Abnormality of the inner ear	8295	TRRAP	OMIM:618778
HP:0000359	Abnormality of the inner ear	4693	NDP	ORPHA:649
HP:0000359	Abnormality of the inner ear	26040	SETBP1	ORPHA:798
HP:0000359	Abnormality of the inner ear	7401	CLRN1	ORPHA:231183
HP:0000359	Abnormality of the inner ear	22901	ARSG	ORPHA:231183
HP:0000359	Abnormality of the inner ear	4575	MT-TS2	ORPHA:231183
HP:0000359	Abnormality of the inner ear	3035	HARS1	ORPHA:231183
HP:0000359	Abnormality of the inner ear	84131	CEP78	ORPHA:231183
HP:0000359	Abnormality of the inner ear	23498	HAAO	OMIM:617660
HP:0000359	Abnormality of the inner ear	4998	ORC1	OMIM:224690
HP:0000359	Abnormality of the inner ear	5456	POU3F4	OMIM:304400
HP:0000359	Abnormality of the inner ear	5456	POU3F4	ORPHA:1435
HP:0000359	Abnormality of the inner ear	10804	GJB6	OMIM:304400
HP:0000359	Abnormality of the inner ear	2706	GJB2	OMIM:304400
HP:0000359	Abnormality of the inner ear	1690	COCH	OMIM:601369
HP:0000359	Abnormality of the inner ear	5190	PEX6	ORPHA:95433
HP:0000359	Abnormality of the inner ear	10847	SRCAP	ORPHA:2044
HP:0000359	Abnormality of the inner ear	1663	DDX11	OMIM:613398
HP:0000359	Abnormality of the inner ear	3735	KARS1	OMIM:613641
HP:0000359	Abnormality of the inner ear	161742	SPRED1	ORPHA:137605
HP:0000359	Abnormality of the inner ear	4771	NF2	OMIM:162091
HP:0000359	Abnormality of the inner ear	6598	SMARCB1	OMIM:162091
HP:0000359	Abnormality of the inner ear	2248	FGF3	ORPHA:90024
HP:0000359	Abnormality of the inner ear	2248	FGF3	OMIM:610706
HP:0000359	Abnormality of the inner ear	1288	COL4A6	OMIM:300914
HP:0000359	Abnormality of the inner ear	6663	SOX10	OMIM:611584
HP:0000359	Abnormality of the inner ear	80000	GREB1L	OMIM:619274
HP:0000359	Abnormality of the inner ear	2263	FGFR2	ORPHA:87
HP:0000359	Abnormality of the inner ear	54845	ESRP1	OMIM:618013
HP:0000359	Abnormality of the inner ear	22800	RRAS2	ORPHA:648
HP:0000359	Abnormality of the inner ear	867	CBL	ORPHA:648
HP:0000359	Abnormality of the inner ear	8216	LZTR1	ORPHA:648
HP:0000359	Abnormality of the inner ear	6016	RIT1	ORPHA:648
HP:0000359	Abnormality of the inner ear	6237	RRAS	ORPHA:648
HP:0000359	Abnormality of the inner ear	5894	RAF1	ORPHA:648
HP:0000359	Abnormality of the inner ear	22808	MRAS	ORPHA:648
HP:0000359	Abnormality of the inner ear	3845	KRAS	ORPHA:648
HP:0000359	Abnormality of the inner ear	200734	SPRED2	ORPHA:648
HP:0000359	Abnormality of the inner ear	4893	NRAS	ORPHA:648
HP:0000359	Abnormality of the inner ear	6654	SOS1	ORPHA:648
HP:0000359	Abnormality of the inner ear	6655	SOS2	ORPHA:648
HP:0000359	Abnormality of the inner ear	5781	PTPN11	ORPHA:648
HP:0000359	Abnormality of the inner ear	5922	RASA2	ORPHA:648
HP:0000359	Abnormality of the inner ear	55636	CHD7	ORPHA:138
HP:0000359	Abnormality of the inner ear	9723	SEMA3E	ORPHA:138
HP:0000359	Abnormality of the inner ear	57167	SALL4	ORPHA:233
HP:0000359	Abnormality of the inner ear	9935	MAFB	ORPHA:233
HP:0000359	Abnormality of the inner ear	1123	CHN1	ORPHA:233
HP:0000359	Abnormality of the inner ear	7291	TWIST1	ORPHA:794
HP:0000359	Abnormality of the inner ear	2261	FGFR3	ORPHA:794
HP:0000359	Abnormality of the inner ear	84172	POLR1B	ORPHA:861
HP:0000359	Abnormality of the inner ear	9533	POLR1C	ORPHA:861
HP:0000359	Abnormality of the inner ear	51082	POLR1D	ORPHA:861
HP:0000359	Abnormality of the inner ear	6949	TCOF1	ORPHA:861
HP:0000359	Abnormality of the inner ear	5396	PRRX1	ORPHA:990
HP:0000359	Abnormality of the inner ear	5015	OTX2	ORPHA:990
HP:0000359	Abnormality of the inner ear	2077	ERF	ORPHA:207
HP:0000359	Abnormality of the inner ear	5728	PTEN	ORPHA:744
HP:0000359	Abnormality of the inner ear	207	AKT1	ORPHA:744
HP:0000359	Abnormality of the inner ear	3265	HRAS	ORPHA:79414
HP:0000359	Abnormality of the inner ear	3766	KCNJ10	OMIM:600791
HP:0000359	Abnormality of the inner ear	3766	KCNJ10	ORPHA:705
HP:0000359	Abnormality of the inner ear	2299	FOXI1	OMIM:600791
HP:0000359	Abnormality of the inner ear	2299	FOXI1	ORPHA:705
HP:0000359	Abnormality of the inner ear	5172	SLC26A4	OMIM:600791
HP:0000359	Abnormality of the inner ear	5172	SLC26A4	ORPHA:705
HP:0000359	Abnormality of the inner ear	2138	EYA1	OMIM:113650
HP:0000359	Abnormality of the inner ear	6495	SIX1	OMIM:113650
HP:0000359	Abnormality of the inner ear	6885	MAP3K7	OMIM:157800
HP:0000359	Abnormality of the inner ear	147912	SIX5	ORPHA:107
HP:0000359	Abnormality of the inner ear	4363	ABCC1	OMIM:618915
HP:0000359	Abnormality of the inner ear	259236	TMIE	OMIM:600971
HP:0000359	Abnormality of the inner ear	7428	VHL	ORPHA:892
HP:0000359	Abnormality of the inner ear	595	CCND1	ORPHA:892
HP:0000359	Abnormality of the inner ear	84196	USP48	OMIM:620227
HP:0000359	Abnormality of the inner ear	9131	AIFM1	OMIM:300614
HP:0007516	Redundant skin on fingers	4882	NPR2	OMIM:602875
HP:0007515	Hypoplastic pilosebaceous units	4035	LRP1	ORPHA:79100
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	341640	FREM2	OMIM:617666
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	22858	CILK1	OMIM:612651
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	5396	PRRX1	OMIM:202650
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	2263	FGFR2	ORPHA:2363
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	2261	FGFR3	ORPHA:2363
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	2255	FGF10	ORPHA:2363
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	10262	SF3B4	OMIM:154400
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	4750	NEK1	ORPHA:2751
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	4750	NEK1	OMIM:263520
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	26040	SETBP1	ORPHA:798
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	2737	GLI3	OMIM:146510
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	26005	C2CD3	OMIM:615948
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	26005	C2CD3	ORPHA:434179
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	51626	DYNC2LI1	OMIM:617088
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	9775	EIF4A3	OMIM:268305
HP:0010564	Bifid epiglottis	2737	GLI3	ORPHA:672
HP:0010564	Bifid epiglottis	2737	GLI3	OMIM:146510
HP:0010564	Bifid epiglottis	55112	DYNC2I1	ORPHA:93271
HP:0010564	Bifid epiglottis	57560	IFT80	ORPHA:93271
HP:0010564	Bifid epiglottis	57539	WDR35	ORPHA:93271
HP:0010564	Bifid epiglottis	79659	DYNC2H1	ORPHA:93271
HP:0010564	Bifid epiglottis	89891	DYNC2I2	ORPHA:93271
HP:0010564	Bifid epiglottis	2304	FOXE1	OMIM:241850
HP:0010569	Elevated 7-dehydrocholesterol	1717	DHCR7	OMIM:270400
HP:0010569	Elevated 7-dehydrocholesterol	1717	DHCR7	ORPHA:818
HP:0010568	Hamartoma of the eye	7249	TSC2	OMIM:613254
HP:0010568	Hamartoma of the eye	7249	TSC2	ORPHA:805
HP:0010568	Hamartoma of the eye	7249	TSC2	ORPHA:538
HP:0010568	Hamartoma of the eye	3458	IFNG	OMIM:613254
HP:0010568	Hamartoma of the eye	3458	IFNG	ORPHA:805
HP:0010568	Hamartoma of the eye	7248	TSC1	ORPHA:805
HP:0010568	Hamartoma of the eye	7248	TSC1	ORPHA:538
HP:0010568	Hamartoma of the eye	4771	NF2	ORPHA:637
HP:0010568	Hamartoma of the eye	4771	NF2	OMIM:101000
HP:0010568	Hamartoma of the eye	5728	PTEN	ORPHA:744
HP:0010568	Hamartoma of the eye	207	AKT1	ORPHA:744
HP:0010568	Hamartoma of the eye	7428	VHL	ORPHA:892
HP:0010568	Hamartoma of the eye	7428	VHL	ORPHA:29072
HP:0010568	Hamartoma of the eye	7428	VHL	OMIM:193300
HP:0010568	Hamartoma of the eye	595	CCND1	ORPHA:892
HP:0010568	Hamartoma of the eye	595	CCND1	OMIM:193300
HP:0010568	Hamartoma of the eye	1743	DLST	ORPHA:29072
HP:0010568	Hamartoma of the eye	4191	MDH2	ORPHA:29072
HP:0010568	Hamartoma of the eye	5979	RET	ORPHA:29072
HP:0010568	Hamartoma of the eye	6389	SDHA	ORPHA:29072
HP:0010568	Hamartoma of the eye	23095	KIF1B	ORPHA:29072
HP:0010568	Hamartoma of the eye	2271	FH	ORPHA:29072
HP:0010568	Hamartoma of the eye	8402	SLC25A11	ORPHA:29072
HP:0010568	Hamartoma of the eye	54949	SDHAF2	ORPHA:29072
HP:0010568	Hamartoma of the eye	55654	TMEM127	ORPHA:29072
HP:0010568	Hamartoma of the eye	4763	NF1	ORPHA:29072
HP:0010568	Hamartoma of the eye	4149	MAX	ORPHA:29072
HP:0010568	Hamartoma of the eye	2956	MSH6	OMIM:619097
HP:0010568	Hamartoma of the eye	161742	SPRED1	ORPHA:137605
HP:0010568	Hamartoma of the eye	3858	KRT10	ORPHA:312
HP:0010568	Hamartoma of the eye	3848	KRT1	ORPHA:312
HP:0010568	Hamartoma of the eye	10483	SEC23B	ORPHA:201
HP:0010568	Hamartoma of the eye	6390	SDHB	ORPHA:201
HP:0010568	Hamartoma of the eye	6392	SDHD	ORPHA:201
HP:0010568	Hamartoma of the eye	6391	SDHC	ORPHA:201
HP:0010568	Hamartoma of the eye	205717	USF3	ORPHA:201
HP:0010568	Hamartoma of the eye	5290	PIK3CA	ORPHA:201
HP:0010568	Hamartoma of the eye	100144748	KLLN	ORPHA:201
HP:0010571	Elevated circulating phytanic acid concentration	55670	PEX26	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5824	PEX19	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5828	PEX2	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5828	PEX2	OMIM:614866
HP:0010571	Elevated circulating phytanic acid concentration	5828	PEX2	OMIM:614867
HP:0010571	Elevated circulating phytanic acid concentration	8504	PEX3	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	9409	PEX16	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	9409	PEX16	OMIM:614877
HP:0010571	Elevated circulating phytanic acid concentration	5190	PEX6	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	8799	PEX11B	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5830	PEX5	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5189	PEX1	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5193	PEX12	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5193	PEX12	OMIM:266510
HP:0010571	Elevated circulating phytanic acid concentration	5194	PEX13	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5195	PEX14	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5192	PEX10	ORPHA:772
HP:0010571	Elevated circulating phytanic acid concentration	5192	PEX10	OMIM:614871
HP:0010571	Elevated circulating phytanic acid concentration	23600	AMACR	OMIM:614307
HP:0010571	Elevated circulating phytanic acid concentration	5191	PEX7	OMIM:614879
HP:0010571	Elevated circulating phytanic acid concentration	5191	PEX7	OMIM:266500
HP:0010571	Elevated circulating phytanic acid concentration	5191	PEX7	OMIM:215100
HP:0010571	Elevated circulating phytanic acid concentration	5264	PHYH	OMIM:266500
HP:0010562	Keloids	1308	COL17A1	ORPHA:79406
HP:0010562	Keloids	538	ATP7A	ORPHA:198
HP:0010562	Keloids	1387	CREBBP	ORPHA:353281
HP:0010562	Keloids	1387	CREBBP	OMIM:180849
HP:0010562	Keloids	1387	CREBBP	ORPHA:353277
HP:0010562	Keloids	4854	NOTCH3	OMIM:130720
HP:0010562	Keloids	5159	PDGFRB	OMIM:601812
HP:0010562	Keloids	23592	LEMD3	ORPHA:166119
HP:0010562	Keloids	2033	EP300	OMIM:180849
HP:0010562	Keloids	2033	EP300	ORPHA:353284
HP:0010562	Keloids	6885	MAP3K7	OMIM:617137
HP:0010562	Keloids	6885	MAP3K7	ORPHA:1826
HP:0010562	Keloids	324	APC	OMIM:175100
HP:0010562	Keloids	324	APC	ORPHA:79665
HP:0010562	Keloids	2316	FLNA	ORPHA:1826
HP:0010562	Keloids	1294	COL7A1	ORPHA:79410
HP:0010562	Keloids	4952	OCRL	OMIM:309000
HP:0007522	Increased number of skin folds	203068	TUBB	ORPHA:2505
HP:0007522	Increased number of skin folds	10982	MAPRE2	ORPHA:2505
HP:0007522	Increased number of skin folds	2006	ELN	ORPHA:90348
HP:0007522	Increased number of skin folds	10516	FBLN5	ORPHA:90348
HP:0007522	Increased number of skin folds	5832	ALDH18A1	ORPHA:90348
HP:0007522	Increased number of skin folds	2677	GGCX	ORPHA:436274
HP:0007524	Atypical neurofibromatosis	4763	NF1	ORPHA:97685
HP:0000360	Tinnitus	2911	GRM1	OMIM:617691
HP:0000360	Tinnitus	8314	BAP1	ORPHA:2495
HP:0000360	Tinnitus	4771	NF2	ORPHA:2495
HP:0000360	Tinnitus	4771	NF2	ORPHA:637
HP:0000360	Tinnitus	4771	NF2	OMIM:101000
HP:0000360	Tinnitus	6598	SMARCB1	ORPHA:2495
HP:0000360	Tinnitus	5155	PDGFB	ORPHA:2495
HP:0000360	Tinnitus	84231	TRAF7	ORPHA:2495
HP:0000360	Tinnitus	6608	SMO	ORPHA:2495
HP:0000360	Tinnitus	207	AKT1	ORPHA:2495
HP:0000360	Tinnitus	5290	PIK3CA	ORPHA:2495
HP:0000360	Tinnitus	7015	TERT	ORPHA:2495
HP:0000360	Tinnitus	51684	SUFU	ORPHA:2495
HP:0000360	Tinnitus	6605	SMARCE1	ORPHA:2495
HP:0000360	Tinnitus	773	CACNA1A	OMIM:108500
HP:0000360	Tinnitus	773	CACNA1A	ORPHA:569
HP:0000360	Tinnitus	773	CACNA1A	ORPHA:97
HP:0000360	Tinnitus	117531	TMC1	OMIM:606705
HP:0000360	Tinnitus	56616	DIABLO	OMIM:614152
HP:0000360	Tinnitus	491	ATP2B2	OMIM:619804
HP:0000360	Tinnitus	4363	ABCC1	OMIM:618915
HP:0000360	Tinnitus	23516	SLC39A14	OMIM:144755
HP:0000360	Tinnitus	1690	COCH	OMIM:601369
HP:0000360	Tinnitus	9885	OSBPL2	OMIM:616340
HP:0000360	Tinnitus	407053	MIR96	OMIM:613074
HP:0000360	Tinnitus	9131	AIFM1	OMIM:300614
HP:0000360	Tinnitus	125336	LOXHD1	OMIM:613079
HP:0000360	Tinnitus	22943	DKK1	ORPHA:268882
HP:0000360	Tinnitus	4668	NAGA	ORPHA:79280
HP:0000360	Tinnitus	4352	MPL	ORPHA:729
HP:0000360	Tinnitus	3717	JAK2	ORPHA:729
HP:0000360	Tinnitus	54790	TET2	ORPHA:729
HP:0000360	Tinnitus	112476	PRRT2	ORPHA:569
HP:0000360	Tinnitus	6323	SCN1A	ORPHA:569
HP:0000360	Tinnitus	477	ATP1A2	ORPHA:569
HP:0000360	Tinnitus	1181	CLCN2	ORPHA:404
HP:0000360	Tinnitus	1584	CYP11B1	ORPHA:403
HP:0000360	Tinnitus	1585	CYP11B2	ORPHA:403
HP:0000360	Tinnitus	9132	KCNQ4	OMIM:600101
HP:0000360	Tinnitus	857	CAV1	OMIM:606721
HP:0000360	Tinnitus	776	CACNA1D	ORPHA:369929
HP:0000360	Tinnitus	80736	SLC44A4	OMIM:617606
HP:0000360	Tinnitus	5376	PMP22	ORPHA:90658
HP:0000360	Tinnitus	595	CCND1	OMIM:193300
HP:0000360	Tinnitus	1834	DSPP	OMIM:605594
HP:0000360	Tinnitus	152137	CCDC50	OMIM:607453
HP:0000360	Tinnitus	3762	KCNJ5	ORPHA:251274
HP:0000360	Tinnitus	22953	P2RX2	OMIM:608224
HP:0000360	Tinnitus	1188	CLCNKB	ORPHA:358
HP:0000360	Tinnitus	6559	SLC12A3	ORPHA:358
HP:0000360	Tinnitus	9927	MFN2	OMIM:601152
HP:0000360	Tinnitus	54949	SDHAF2	OMIM:601650
HP:0000360	Tinnitus	54949	SDHAF2	ORPHA:29072
HP:0000360	Tinnitus	7428	VHL	ORPHA:29072
HP:0000360	Tinnitus	7428	VHL	ORPHA:276621
HP:0000360	Tinnitus	1743	DLST	ORPHA:29072
HP:0000360	Tinnitus	4191	MDH2	ORPHA:29072
HP:0000360	Tinnitus	5979	RET	ORPHA:29072
HP:0000360	Tinnitus	5979	RET	ORPHA:276621
HP:0000360	Tinnitus	6389	SDHA	ORPHA:29072
HP:0000360	Tinnitus	23095	KIF1B	ORPHA:29072
HP:0000360	Tinnitus	2271	FH	ORPHA:29072
HP:0000360	Tinnitus	8402	SLC25A11	ORPHA:29072
HP:0000360	Tinnitus	55654	TMEM127	ORPHA:29072
HP:0000360	Tinnitus	4763	NF1	ORPHA:29072
HP:0000360	Tinnitus	6391	SDHC	ORPHA:29072
HP:0000360	Tinnitus	6391	SDHC	OMIM:605373
HP:0000360	Tinnitus	6392	SDHD	ORPHA:29072
HP:0000360	Tinnitus	6392	SDHD	OMIM:168000
HP:0000360	Tinnitus	6392	SDHD	ORPHA:276621
HP:0000360	Tinnitus	6390	SDHB	ORPHA:29072
HP:0000360	Tinnitus	6390	SDHB	ORPHA:276621
HP:0000360	Tinnitus	6390	SDHB	OMIM:115310
HP:0000360	Tinnitus	4149	MAX	ORPHA:29072
HP:0000360	Tinnitus	1788	DNMT3A	ORPHA:276621
HP:0000360	Tinnitus	2034	EPAS1	ORPHA:276621
HP:0000362	Otosclerosis	5718	PSMD12	ORPHA:529962
HP:0000362	Otosclerosis	2186	BPTF	ORPHA:529962
HP:0000362	Otosclerosis	392255	GDF6	OMIM:617898
HP:0000362	Otosclerosis	3423	IDS	ORPHA:217085
HP:0000362	Otosclerosis	3423	IDS	ORPHA:217093
HP:0000362	Otosclerosis	1277	COL1A1	OMIM:166220
HP:0000362	Otosclerosis	1277	COL1A1	OMIM:166200
HP:0000362	Otosclerosis	1278	COL1A2	OMIM:166220
HP:0000363	Abnormal earlobe morphology	4247	MGAT2	ORPHA:79329
HP:0000363	Abnormal earlobe morphology	1718	DHCR24	ORPHA:35107
HP:0000363	Abnormal earlobe morphology	613	BCR	ORPHA:261330
HP:0000363	Abnormal earlobe morphology	1399	CRKL	ORPHA:261330
HP:0000363	Abnormal earlobe morphology	5594	MAPK1	ORPHA:261330
HP:0000363	Abnormal earlobe morphology	57061	HYMAI	ORPHA:96191
HP:0000363	Abnormal earlobe morphology	5325	PLAGL1	ORPHA:96191
HP:0000363	Abnormal earlobe morphology	1836	SLC26A2	ORPHA:93307
HP:0000363	Abnormal earlobe morphology	5879	RAC1	ORPHA:500159
HP:0000363	Abnormal earlobe morphology	545	ATR	ORPHA:808
HP:0000363	Abnormal earlobe morphology	1062	CENPE	ORPHA:808
HP:0000363	Abnormal earlobe morphology	5116	PCNT	ORPHA:808
HP:0000363	Abnormal earlobe morphology	5932	RBBP8	ORPHA:808
HP:0000363	Abnormal earlobe morphology	79902	NUP85	ORPHA:808
HP:0000363	Abnormal earlobe morphology	84126	ATRIP	ORPHA:808
HP:0000363	Abnormal earlobe morphology	55835	CENPJ	ORPHA:808
HP:0000363	Abnormal earlobe morphology	10293	TRAIP	ORPHA:808
HP:0000363	Abnormal earlobe morphology	22995	CEP152	ORPHA:808
HP:0000363	Abnormal earlobe morphology	10733	PLK4	ORPHA:808
HP:0000363	Abnormal earlobe morphology	8450	CUL4B	ORPHA:85293
HP:0000363	Abnormal earlobe morphology	54539	NDUFB11	ORPHA:2556
HP:0000363	Abnormal earlobe morphology	1349	COX7B	ORPHA:2556
HP:0000363	Abnormal earlobe morphology	3052	HCCS	ORPHA:2556
HP:0000363	Abnormal earlobe morphology	5447	POR	ORPHA:95699
HP:0000363	Abnormal earlobe morphology	3187	HNRNPH1	OMIM:620083
HP:0000363	Abnormal earlobe morphology	6611	SMS	ORPHA:3063
HP:0000363	Abnormal earlobe morphology	253738	EBF3	OMIM:617330
HP:0000363	Abnormal earlobe morphology	5792	PTPRF	OMIM:616001
HP:0000363	Abnormal earlobe morphology	51099	ABHD5	ORPHA:98907
HP:0000363	Abnormal earlobe morphology	2335	FN1	ORPHA:93315
HP:0000363	Abnormal earlobe morphology	1280	COL2A1	ORPHA:93315
HP:0000363	Abnormal earlobe morphology	7994	KAT6A	OMIM:616268
HP:0000363	Abnormal earlobe morphology	284252	KCTD1	ORPHA:2036
HP:0000363	Abnormal earlobe morphology	284252	KCTD1	OMIM:181270
HP:0000363	Abnormal earlobe morphology	11128	POLR3A	OMIM:264090
HP:0000363	Abnormal earlobe morphology	1312	COMT	ORPHA:567
HP:0000363	Abnormal earlobe morphology	221037	JMJD1C	ORPHA:567
HP:0000363	Abnormal earlobe morphology	2812	GP1BB	ORPHA:567
HP:0000363	Abnormal earlobe morphology	6239	RREB1	ORPHA:567
HP:0000363	Abnormal earlobe morphology	6899	TBX1	ORPHA:567
HP:0000363	Abnormal earlobe morphology	7290	HIRA	ORPHA:567
HP:0000363	Abnormal earlobe morphology	9632	SEC24C	ORPHA:567
HP:0000363	Abnormal earlobe morphology	7353	UFD1	ORPHA:567
HP:0000363	Abnormal earlobe morphology	421	ARVCF	ORPHA:567
HP:0000363	Abnormal earlobe morphology	9896	FIG4	OMIM:216340
HP:0000363	Abnormal earlobe morphology	91179	SCARF2	OMIM:600920
HP:0000363	Abnormal earlobe morphology	7750	ZMYM2	OMIM:619522
HP:0000363	Abnormal earlobe morphology	27245	AHDC1	ORPHA:412069
HP:0000363	Abnormal earlobe morphology	27245	AHDC1	OMIM:615829
HP:0000363	Abnormal earlobe morphology	990	CDC6	OMIM:613805
HP:0000363	Abnormal earlobe morphology	55343	SLC35C1	ORPHA:99843
HP:0000363	Abnormal earlobe morphology	8241	RBM10	ORPHA:2886
HP:0000363	Abnormal earlobe morphology	157570	ESCO2	OMIM:268300
HP:0000363	Abnormal earlobe morphology	157570	ESCO2	ORPHA:3103
HP:0000363	Abnormal earlobe morphology	11285	B4GALT7	OMIM:130070
HP:0000363	Abnormal earlobe morphology	1387	CREBBP	OMIM:618332
HP:0000363	Abnormal earlobe morphology	2033	EP300	OMIM:618333
HP:0000363	Abnormal earlobe morphology	55628	ZNF407	OMIM:619557
HP:0000363	Abnormal earlobe morphology	9757	KMT2B	OMIM:619934
HP:0000363	Abnormal earlobe morphology	3166	HMX1	OMIM:612109
HP:0000363	Abnormal earlobe morphology	2245	FGD1	OMIM:305400
HP:0000363	Abnormal earlobe morphology	23013	SPEN	OMIM:619312
HP:0000363	Abnormal earlobe morphology	10785	WDR4	OMIM:618346
HP:0000363	Abnormal earlobe morphology	9320	TRIP12	OMIM:617752
HP:0000363	Abnormal earlobe morphology	55023	PHIP	OMIM:617991
HP:0000363	Abnormal earlobe morphology	4853	NOTCH2	OMIM:102500
HP:0000363	Abnormal earlobe morphology	51002	TPRKB	OMIM:617731
HP:0000363	Abnormal earlobe morphology	55275	VPS53	OMIM:615851
HP:0000363	Abnormal earlobe morphology	1968	EIF2S3	ORPHA:85282
HP:0000363	Abnormal earlobe morphology	5361	PLXNA1	OMIM:619955
HP:0000363	Abnormal earlobe morphology	85440	DOCK7	ORPHA:411986
HP:0000363	Abnormal earlobe morphology	93210	PGAP3	OMIM:615716
HP:0000363	Abnormal earlobe morphology	84295	PHF6	ORPHA:127
HP:0000363	Abnormal earlobe morphology	84992	PIGY	OMIM:616809
HP:0000363	Abnormal earlobe morphology	64093	SMOC1	ORPHA:1106
HP:0000363	Abnormal earlobe morphology	55593	OTUD5	OMIM:301056
HP:0000363	Abnormal earlobe morphology	3265	HRAS	ORPHA:3071
HP:0000363	Abnormal earlobe morphology	283209	PGM2L1	OMIM:620191
HP:0000363	Abnormal earlobe morphology	5290	PIK3CA	OMIM:602501
HP:0000363	Abnormal earlobe morphology	29998	BICRA	OMIM:619325
HP:0000363	Abnormal earlobe morphology	51506	UFC1	OMIM:618076
HP:0000363	Abnormal earlobe morphology	7358	UGDH	OMIM:618792
HP:0000363	Abnormal earlobe morphology	1806	DPYD	ORPHA:1675
HP:0000363	Abnormal earlobe morphology	9772	TMEM94	OMIM:618316
HP:0000363	Abnormal earlobe morphology	51085	MLXIPL	OMIM:194050
HP:0000363	Abnormal earlobe morphology	2006	ELN	OMIM:194050
HP:0000363	Abnormal earlobe morphology	9343	EFTUD2	ORPHA:79113
HP:0000363	Abnormal earlobe morphology	26040	SETBP1	ORPHA:798
HP:0000363	Abnormal earlobe morphology	2697	GJA1	OMIM:257850
HP:0000363	Abnormal earlobe morphology	1281	COL3A1	ORPHA:286
HP:0000363	Abnormal earlobe morphology	3039	HBA1	ORPHA:98791
HP:0000363	Abnormal earlobe morphology	3040	HBA2	ORPHA:98791
HP:0000363	Abnormal earlobe morphology	157680	VPS13B	ORPHA:193
HP:0000363	Abnormal earlobe morphology	2263	FGFR2	ORPHA:1555
HP:0000363	Abnormal earlobe morphology	2313	FLI1	ORPHA:2308
HP:0000363	Abnormal earlobe morphology	55636	CHD7	ORPHA:138
HP:0000363	Abnormal earlobe morphology	9723	SEMA3E	ORPHA:138
HP:0000363	Abnormal earlobe morphology	56006	SMG9	OMIM:616920
HP:0000363	Abnormal earlobe morphology	51109	RDH11	ORPHA:436245
HP:0000363	Abnormal earlobe morphology	51109	RDH11	OMIM:616108
HP:0000363	Abnormal earlobe morphology	9653	HS2ST1	OMIM:619194
HP:0000363	Abnormal earlobe morphology	1009	CDH11	ORPHA:1299
HP:0000363	Abnormal earlobe morphology	3097	HIVEP2	OMIM:616977
HP:0000363	Abnormal earlobe morphology	7468	NSD2	OMIM:619695
HP:0000363	Abnormal earlobe morphology	57479	PRR12	OMIM:619539
HP:0000363	Abnormal earlobe morphology	673	BRAF	OMIM:115150
HP:0000363	Abnormal earlobe morphology	2719	GPC3	OMIM:312870
HP:0000363	Abnormal earlobe morphology	2239	GPC4	OMIM:312870
HP:0000363	Abnormal earlobe morphology	9839	ZEB2	ORPHA:261537
HP:0000363	Abnormal earlobe morphology	9839	ZEB2	ORPHA:261552
HP:0000363	Abnormal earlobe morphology	9839	ZEB2	OMIM:235730
HP:0000363	Abnormal earlobe morphology	699	BUB1	OMIM:620183
HP:0000363	Abnormal earlobe morphology	9488	PIGB	OMIM:618580
HP:0000363	Abnormal earlobe morphology	11141	IL1RAPL1	OMIM:300143
HP:0000363	Abnormal earlobe morphology	79813	EHMT1	ORPHA:261652
HP:0000363	Abnormal earlobe morphology	58508	KMT2C	ORPHA:261652
HP:0000363	Abnormal earlobe morphology	652	BMP4	OMIM:607932
HP:0000363	Abnormal earlobe morphology	9578	CDC42BPB	OMIM:619841
HP:0000363	Abnormal earlobe morphology	2892	GRIA3	ORPHA:364028
HP:0000363	Abnormal earlobe morphology	81887	LAS1L	ORPHA:3459
HP:0000363	Abnormal earlobe morphology	55869	HDAC8	ORPHA:3459
HP:0000363	Abnormal earlobe morphology	9487	PIGL	OMIM:280000
HP:0000363	Abnormal earlobe morphology	81857	MED25	OMIM:616449
HP:0000363	Abnormal earlobe morphology	7025	NR2F1	OMIM:615722
HP:0000363	Abnormal earlobe morphology	7291	TWIST1	OMIM:617746
HP:0000363	Abnormal earlobe morphology	10982	MAPRE2	OMIM:616734
HP:0000363	Abnormal earlobe morphology	6602	SMARCD1	OMIM:618779
HP:0000363	Abnormal earlobe morphology	9091	PIGQ	OMIM:618548
HP:0000363	Abnormal earlobe morphology	25942	SIN3A	OMIM:613406
HP:0000363	Abnormal earlobe morphology	79718	TBL1XR1	ORPHA:487825
HP:0000363	Abnormal earlobe morphology	4123	MAN2C1	OMIM:619775
HP:0000364	Hearing abnormality	2911	GRM1	OMIM:617691
HP:0000364	Hearing abnormality	8314	BAP1	ORPHA:2495
HP:0000364	Hearing abnormality	5155	PDGFB	ORPHA:2495
HP:0000364	Hearing abnormality	6608	SMO	ORPHA:2495
HP:0000364	Hearing abnormality	51684	SUFU	ORPHA:2495
HP:0000364	Hearing abnormality	117531	TMC1	OMIM:606705
HP:0000364	Hearing abnormality	56616	DIABLO	OMIM:614152
HP:0000364	Hearing abnormality	491	ATP2B2	OMIM:619804
HP:0000364	Hearing abnormality	4363	ABCC1	OMIM:618915
HP:0000364	Hearing abnormality	23516	SLC39A14	OMIM:144755
HP:0000364	Hearing abnormality	1690	COCH	OMIM:601369
HP:0000364	Hearing abnormality	9885	OSBPL2	OMIM:616340
HP:0000364	Hearing abnormality	407053	MIR96	OMIM:613074
HP:0000364	Hearing abnormality	125336	LOXHD1	OMIM:613079
HP:0000364	Hearing abnormality	22943	DKK1	ORPHA:268882
HP:0000364	Hearing abnormality	4352	MPL	ORPHA:729
HP:0000364	Hearing abnormality	3717	JAK2	ORPHA:729
HP:0000364	Hearing abnormality	54790	TET2	ORPHA:729
HP:0000364	Hearing abnormality	1181	CLCN2	ORPHA:404
HP:0000364	Hearing abnormality	1584	CYP11B1	ORPHA:403
HP:0000364	Hearing abnormality	1585	CYP11B2	ORPHA:403
HP:0000364	Hearing abnormality	857	CAV1	OMIM:606721
HP:0000364	Hearing abnormality	80736	SLC44A4	OMIM:617606
HP:0000364	Hearing abnormality	595	CCND1	OMIM:193300
HP:0000364	Hearing abnormality	1834	DSPP	OMIM:605594
HP:0000364	Hearing abnormality	152137	CCDC50	OMIM:607453
HP:0000364	Hearing abnormality	22953	P2RX2	OMIM:608224
HP:0000364	Hearing abnormality	1188	CLCNKB	ORPHA:358
HP:0000364	Hearing abnormality	6559	SLC12A3	ORPHA:358
HP:0000364	Hearing abnormality	5080	PAX6	ORPHA:893
HP:0000364	Hearing abnormality	5080	PAX6	ORPHA:1065
HP:0000364	Hearing abnormality	627	BDNF	ORPHA:893
HP:0000364	Hearing abnormality	7490	WT1	ORPHA:893
HP:0000364	Hearing abnormality	4014	LORICRIN	OMIM:604117
HP:0000364	Hearing abnormality	1185	CLCN6	OMIM:619173
HP:0000364	Hearing abnormality	54084	TSPEAR	OMIM:618180
HP:0000364	Hearing abnormality	9241	NOG	OMIM:186570
HP:0000364	Hearing abnormality	10491	CRTAP	OMIM:610682
HP:0000364	Hearing abnormality	79574	EPS8L3	OMIM:612841
HP:0000364	Hearing abnormality	3708	ITPR1	ORPHA:1065
HP:0000364	Hearing abnormality	4683	NBN	ORPHA:647
HP:0000364	Hearing abnormality	4221	MEN1	ORPHA:97279
HP:0000364	Hearing abnormality	7528	YY1	ORPHA:97279
HP:0000364	Hearing abnormality	6678	SPARC	OMIM:616507
HP:0000364	Hearing abnormality	2776	GNAQ	ORPHA:3205
HP:0000364	Hearing abnormality	3081	HGD	ORPHA:56
HP:0000364	Hearing abnormality	8517	IKBKG	ORPHA:464
HP:0000364	Hearing abnormality	5981	RFC1	OMIM:614575
HP:0000364	Hearing abnormality	1301	COL11A1	ORPHA:2021
HP:0000364	Hearing abnormality	1302	COL11A2	ORPHA:2021
HP:0000364	Hearing abnormality	11128	POLR3A	ORPHA:3455
HP:0000364	Hearing abnormality	121340	SP7	OMIM:613849
HP:0000364	Hearing abnormality	26191	PTPN22	ORPHA:397
HP:0000364	Hearing abnormality	3106	HLA-B	ORPHA:397
HP:0000364	Hearing abnormality	3123	HLA-DRB1	ORPHA:397
HP:0000364	Hearing abnormality	8974	P4HA2	ORPHA:397
HP:0000364	Hearing abnormality	65217	PCDH15	OMIM:601067
HP:0000364	Hearing abnormality	64072	CDH23	OMIM:601067
HP:0000364	Hearing abnormality	51569	UFM1	OMIM:617899
HP:0000364	Hearing abnormality	2263	FGFR2	OMIM:149730
HP:0000364	Hearing abnormality	2263	FGFR2	ORPHA:794
HP:0000364	Hearing abnormality	2263	FGFR2	ORPHA:93260
HP:0000364	Hearing abnormality	2263	FGFR2	ORPHA:93258
HP:0000364	Hearing abnormality	2263	FGFR2	OMIM:101400
HP:0000364	Hearing abnormality	2263	FGFR2	OMIM:101200
HP:0000364	Hearing abnormality	2263	FGFR2	ORPHA:207
HP:0000364	Hearing abnormality	79188	TMEM43	OMIM:619832
HP:0000364	Hearing abnormality	4897	NRCAM	OMIM:619833
HP:0000364	Hearing abnormality	7068	THRB	OMIM:274300
HP:0000364	Hearing abnormality	5631	PRPS1	ORPHA:99014
HP:0000364	Hearing abnormality	5631	PRPS1	OMIM:301835
HP:0000364	Hearing abnormality	5631	PRPS1	OMIM:311070
HP:0000364	Hearing abnormality	5631	PRPS1	OMIM:300661
HP:0000364	Hearing abnormality	6662	SOX9	ORPHA:140
HP:0000364	Hearing abnormality	6662	SOX9	OMIM:114290
HP:0000364	Hearing abnormality	1855	DVL1	OMIM:616331
HP:0000364	Hearing abnormality	1855	DVL1	ORPHA:3107
HP:0000364	Hearing abnormality	64412	GZF1	OMIM:617662
HP:0000364	Hearing abnormality	10528	NOP56	OMIM:614153
HP:0000364	Hearing abnormality	10528	NOP56	ORPHA:276198
HP:0000364	Hearing abnormality	56997	COQ8A	ORPHA:139485
HP:0000364	Hearing abnormality	27245	AHDC1	ORPHA:412069
HP:0000364	Hearing abnormality	6595	SMARCA2	ORPHA:2728
HP:0000364	Hearing abnormality	51112	TRAPPC12	OMIM:617669
HP:0000364	Hearing abnormality	55636	CHD7	ORPHA:138
HP:0000364	Hearing abnormality	9723	SEMA3E	ORPHA:138
HP:0000364	Hearing abnormality	55650	PIGV	OMIM:239300
HP:0000364	Hearing abnormality	55154	MSTO1	OMIM:617675
HP:0000364	Hearing abnormality	55154	MSTO1	ORPHA:502423
HP:0000364	Hearing abnormality	50484	RRM2B	OMIM:613077
HP:0000364	Hearing abnormality	50484	RRM2B	ORPHA:254892
HP:0000364	Hearing abnormality	50484	RRM2B	ORPHA:329336
HP:0000364	Hearing abnormality	50484	RRM2B	ORPHA:480
HP:0000364	Hearing abnormality	50484	RRM2B	OMIM:268315
HP:0000364	Hearing abnormality	113189	CHST14	ORPHA:2953
HP:0000364	Hearing abnormality	113189	CHST14	OMIM:601776
HP:0000364	Hearing abnormality	29940	DSE	ORPHA:2953
HP:0000364	Hearing abnormality	54880	BCOR	ORPHA:2712
HP:0000364	Hearing abnormality	54880	BCOR	ORPHA:568
HP:0000364	Hearing abnormality	54880	BCOR	OMIM:309800
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:1860
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:794
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:15
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:93274
HP:0000364	Hearing abnormality	2261	FGFR3	OMIM:620192
HP:0000364	Hearing abnormality	2261	FGFR3	OMIM:616482
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:85164
HP:0000364	Hearing abnormality	2261	FGFR3	OMIM:602849
HP:0000364	Hearing abnormality	2261	FGFR3	OMIM:610474
HP:0000364	Hearing abnormality	2261	FGFR3	ORPHA:35099
HP:0000364	Hearing abnormality	84100	ARL6	OMIM:209900
HP:0000364	Hearing abnormality	84100	ARL6	ORPHA:110
HP:0000364	Hearing abnormality	79140	CCDC28B	OMIM:209900
HP:0000364	Hearing abnormality	582	BBS1	OMIM:209900
HP:0000364	Hearing abnormality	582	BBS1	ORPHA:110
HP:0000364	Hearing abnormality	2697	GJA1	ORPHA:2710
HP:0000364	Hearing abnormality	2697	GJA1	ORPHA:317
HP:0000364	Hearing abnormality	10087	CERT1	OMIM:616351
HP:0000364	Hearing abnormality	11107	PRDM5	OMIM:614170
HP:0000364	Hearing abnormality	4330	MN1	OMIM:618774
HP:0000364	Hearing abnormality	81848	SPRY4	OMIM:615266
HP:0000364	Hearing abnormality	57231	SNX14	OMIM:616354
HP:0000364	Hearing abnormality	1848	DUSP6	OMIM:615269
HP:0000364	Hearing abnormality	8550	MAPKAPK5	OMIM:619869
HP:0000364	Hearing abnormality	8036	SHOC2	ORPHA:2701
HP:0000364	Hearing abnormality	5500	PPP1CB	ORPHA:2701
HP:0000364	Hearing abnormality	54756	IL17RD	OMIM:615267
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:1856
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:166011
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:93296
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:485
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:94068
HP:0000364	Hearing abnormality	1280	COL2A1	OMIM:183900
HP:0000364	Hearing abnormality	1280	COL2A1	OMIM:609508
HP:0000364	Hearing abnormality	1280	COL2A1	ORPHA:93346
HP:0000364	Hearing abnormality	2316	FLNA	ORPHA:90650
HP:0000364	Hearing abnormality	2316	FLNA	ORPHA:90652
HP:0000364	Hearing abnormality	2316	FLNA	ORPHA:1826
HP:0000364	Hearing abnormality	2316	FLNA	OMIM:305620
HP:0000364	Hearing abnormality	2316	FLNA	ORPHA:2484
HP:0000364	Hearing abnormality	1499	CTNNB1	ORPHA:54595
HP:0000364	Hearing abnormality	1499	CTNNB1	ORPHA:404473
HP:0000364	Hearing abnormality	1499	CTNNB1	ORPHA:891
HP:0000364	Hearing abnormality	673	BRAF	ORPHA:54595
HP:0000364	Hearing abnormality	673	BRAF	OMIM:115150
HP:0000364	Hearing abnormality	673	BRAF	OMIM:163950
HP:0000364	Hearing abnormality	4359	MPZ	ORPHA:101082
HP:0000364	Hearing abnormality	92482	BBIP1	ORPHA:110
HP:0000364	Hearing abnormality	80184	CEP290	ORPHA:110
HP:0000364	Hearing abnormality	80184	CEP290	ORPHA:65
HP:0000364	Hearing abnormality	11020	IFT27	ORPHA:110
HP:0000364	Hearing abnormality	11020	IFT27	OMIM:615996
HP:0000364	Hearing abnormality	49855	SCAPER	ORPHA:110
HP:0000364	Hearing abnormality	4867	NPHP1	ORPHA:110
HP:0000364	Hearing abnormality	51057	WDPCP	ORPHA:110
HP:0000364	Hearing abnormality	27241	BBS9	ORPHA:110
HP:0000364	Hearing abnormality	84984	CEP19	ORPHA:110
HP:0000364	Hearing abnormality	22954	TRIM32	ORPHA:110
HP:0000364	Hearing abnormality	54903	MKS1	ORPHA:110
HP:0000364	Hearing abnormality	79738	BBS10	ORPHA:110
HP:0000364	Hearing abnormality	123016	TTC8	ORPHA:110
HP:0000364	Hearing abnormality	26160	IFT172	ORPHA:110
HP:0000364	Hearing abnormality	583	BBS2	ORPHA:110
HP:0000364	Hearing abnormality	585	BBS4	ORPHA:110
HP:0000364	Hearing abnormality	8195	MKKS	ORPHA:110
HP:0000364	Hearing abnormality	54585	LZTFL1	ORPHA:110
HP:0000364	Hearing abnormality	55212	BBS7	ORPHA:110
HP:0000364	Hearing abnormality	166379	BBS12	ORPHA:110
HP:0000364	Hearing abnormality	10806	SDCCAG8	ORPHA:110
HP:0000364	Hearing abnormality	10806	SDCCAG8	OMIM:615993
HP:0000364	Hearing abnormality	157657	CFAP418	ORPHA:110
HP:0000364	Hearing abnormality	129880	BBS5	ORPHA:110
HP:0000364	Hearing abnormality	80173	IFT74	ORPHA:110
HP:0000364	Hearing abnormality	9131	AIFM1	ORPHA:101078
HP:0000364	Hearing abnormality	9131	AIFM1	OMIM:300614
HP:0000364	Hearing abnormality	9131	AIFM1	OMIM:310490
HP:0000364	Hearing abnormality	5476	CTSA	ORPHA:351
HP:0000364	Hearing abnormality	5476	CTSA	OMIM:256540
HP:0000364	Hearing abnormality	23767	FLRT3	OMIM:615271
HP:0000364	Hearing abnormality	51633	OTUD6B	OMIM:617452
HP:0000364	Hearing abnormality	51633	OTUD6B	ORPHA:505237
HP:0000364	Hearing abnormality	57167	SALL4	OMIM:147750
HP:0000364	Hearing abnormality	57167	SALL4	ORPHA:2307
HP:0000364	Hearing abnormality	57167	SALL4	ORPHA:233
HP:0000364	Hearing abnormality	27125	AFF4	OMIM:616368
HP:0000364	Hearing abnormality	27125	AFF4	ORPHA:444077
HP:0000364	Hearing abnormality	116115	ZNF526	OMIM:619877
HP:0000364	Hearing abnormality	3098	HK1	OMIM:618547
HP:0000364	Hearing abnormality	2705	GJB1	ORPHA:101075
HP:0000364	Hearing abnormality	2517	FUCA1	ORPHA:349
HP:0000364	Hearing abnormality	2517	FUCA1	OMIM:230000
HP:0000364	Hearing abnormality	2138	EYA1	ORPHA:107
HP:0000364	Hearing abnormality	2138	EYA1	ORPHA:52429
HP:0000364	Hearing abnormality	147912	SIX5	ORPHA:107
HP:0000364	Hearing abnormality	147912	SIX5	OMIM:610896
HP:0000364	Hearing abnormality	6495	SIX1	ORPHA:107
HP:0000364	Hearing abnormality	6495	SIX1	ORPHA:52429
HP:0000364	Hearing abnormality	79718	TBL1XR1	OMIM:602342
HP:0000364	Hearing abnormality	79718	TBL1XR1	ORPHA:487825
HP:0000364	Hearing abnormality	6804	STX1A	ORPHA:586
HP:0000364	Hearing abnormality	2947	GSTM3	ORPHA:586
HP:0000364	Hearing abnormality	7040	TGFB1	ORPHA:586
HP:0000364	Hearing abnormality	7040	TGFB1	OMIM:131300
HP:0000364	Hearing abnormality	7040	TGFB1	ORPHA:1328
HP:0000364	Hearing abnormality	2729	GCLC	ORPHA:586
HP:0000364	Hearing abnormality	1084	CEACAM3	ORPHA:586
HP:0000364	Hearing abnormality	6556	SLC11A1	ORPHA:586
HP:0000364	Hearing abnormality	51164	DCTN4	ORPHA:586
HP:0000364	Hearing abnormality	3783	KCNN4	ORPHA:586
HP:0000364	Hearing abnormality	4282	MIF	ORPHA:586
HP:0000364	Hearing abnormality	1909	EDNRA	ORPHA:586
HP:0000364	Hearing abnormality	6550	SLC9A3	ORPHA:586
HP:0000364	Hearing abnormality	3162	HMOX1	ORPHA:586
HP:0000364	Hearing abnormality	115019	SLC26A9	ORPHA:586
HP:0000364	Hearing abnormality	3077	HFE	ORPHA:586
HP:0000364	Hearing abnormality	11254	SLC6A14	ORPHA:586
HP:0000364	Hearing abnormality	5265	SERPINA1	ORPHA:586
HP:0000364	Hearing abnormality	1080	CFTR	ORPHA:586
HP:0000364	Hearing abnormality	22802	CLCA4	ORPHA:586
HP:0000364	Hearing abnormality	4680	CEACAM6	ORPHA:586
HP:0000364	Hearing abnormality	146227	BEAN1	ORPHA:217012
HP:0000364	Hearing abnormality	56652	TWNK	OMIM:271245
HP:0000364	Hearing abnormality	56652	TWNK	ORPHA:254892
HP:0000364	Hearing abnormality	56652	TWNK	ORPHA:1186
HP:0000364	Hearing abnormality	1749	DLX5	OMIM:183600
HP:0000364	Hearing abnormality	90	ACVR1	ORPHA:337
HP:0000364	Hearing abnormality	63895	PIEZO2	ORPHA:376
HP:0000364	Hearing abnormality	6654	SOS1	OMIM:135300
HP:0000364	Hearing abnormality	5354	PLP1	OMIM:312080
HP:0000364	Hearing abnormality	3423	IDS	OMIM:309900
HP:0000364	Hearing abnormality	54532	USP53	OMIM:619658
HP:0000364	Hearing abnormality	6885	MAP3K7	ORPHA:1826
HP:0000364	Hearing abnormality	51322	WAC	ORPHA:466950
HP:0000364	Hearing abnormality	51322	WAC	ORPHA:284169
HP:0000364	Hearing abnormality	51322	WAC	OMIM:616708
HP:0000364	Hearing abnormality	84295	PHF6	ORPHA:127
HP:0000364	Hearing abnormality	4615	MYD88	ORPHA:33226
HP:0000364	Hearing abnormality	404672	GTF2H5	OMIM:616395
HP:0000364	Hearing abnormality	1387	CREBBP	OMIM:618332
HP:0000364	Hearing abnormality	1387	CREBBP	OMIM:180849
HP:0000364	Hearing abnormality	2033	EP300	OMIM:618333
HP:0000364	Hearing abnormality	2033	EP300	OMIM:180849
HP:0000364	Hearing abnormality	5081	PAX7	OMIM:618578
HP:0000364	Hearing abnormality	4126	MANBA	ORPHA:118
HP:0000364	Hearing abnormality	4126	MANBA	OMIM:248510
HP:0000364	Hearing abnormality	7291	TWIST1	ORPHA:794
HP:0000364	Hearing abnormality	7291	TWIST1	OMIM:101400
HP:0000364	Hearing abnormality	7291	TWIST1	ORPHA:35099
HP:0000364	Hearing abnormality	7291	TWIST1	OMIM:617746
HP:0000364	Hearing abnormality	291	SLC25A4	ORPHA:254892
HP:0000364	Hearing abnormality	5428	POLG	ORPHA:254892
HP:0000364	Hearing abnormality	5428	POLG	ORPHA:254886
HP:0000364	Hearing abnormality	5428	POLG	OMIM:613662
HP:0000364	Hearing abnormality	11232	POLG2	ORPHA:254892
HP:0000364	Hearing abnormality	22827	PUF60	ORPHA:508498
HP:0000364	Hearing abnormality	9488	PIGB	OMIM:618580
HP:0000364	Hearing abnormality	6448	SGSH	OMIM:252900
HP:0000364	Hearing abnormality	695	BTK	OMIM:300755
HP:0000364	Hearing abnormality	695	BTK	OMIM:307200
HP:0000364	Hearing abnormality	6134	RPL10	OMIM:300998
HP:0000364	Hearing abnormality	1859	DYRK1A	ORPHA:268261
HP:0000364	Hearing abnormality	8573	CASK	OMIM:300749
HP:0000364	Hearing abnormality	27148	STK36	OMIM:619436
HP:0000364	Hearing abnormality	27148	STK36	ORPHA:244
HP:0000364	Hearing abnormality	55746	NUP133	OMIM:618349
HP:0000364	Hearing abnormality	79813	EHMT1	ORPHA:96147
HP:0000364	Hearing abnormality	79813	EHMT1	OMIM:610253
HP:0000364	Hearing abnormality	79813	EHMT1	ORPHA:261652
HP:0000364	Hearing abnormality	5308	PITX2	ORPHA:782
HP:0000364	Hearing abnormality	2296	FOXC1	ORPHA:782
HP:0000364	Hearing abnormality	55315	SLC29A3	OMIM:602782
HP:0000364	Hearing abnormality	55315	SLC29A3	ORPHA:168569
HP:0000364	Hearing abnormality	55315	SLC29A3	ORPHA:1782
HP:0000364	Hearing abnormality	10397	NDRG1	OMIM:601455
HP:0000364	Hearing abnormality	7084	TK2	ORPHA:254886
HP:0000364	Hearing abnormality	7084	TK2	OMIM:609560
HP:0000364	Hearing abnormality	3767	KCNJ11	ORPHA:99885
HP:0000364	Hearing abnormality	3767	KCNJ11	ORPHA:99886
HP:0000364	Hearing abnormality	6774	STAT3	ORPHA:99885
HP:0000364	Hearing abnormality	2645	GCK	ORPHA:99885
HP:0000364	Hearing abnormality	3651	PDX1	ORPHA:99885
HP:0000364	Hearing abnormality	6833	ABCC8	ORPHA:99885
HP:0000364	Hearing abnormality	6833	ABCC8	ORPHA:99886
HP:0000364	Hearing abnormality	3630	INS	ORPHA:99885
HP:0000364	Hearing abnormality	346171	ZFP57	ORPHA:99886
HP:0000364	Hearing abnormality	57061	HYMAI	ORPHA:99886
HP:0000364	Hearing abnormality	5325	PLAGL1	ORPHA:99886
HP:0000364	Hearing abnormality	801	CALM1	ORPHA:101016
HP:0000364	Hearing abnormality	3753	KCNE1	ORPHA:101016
HP:0000364	Hearing abnormality	3762	KCNJ5	ORPHA:101016
HP:0000364	Hearing abnormality	805	CALM2	ORPHA:101016
HP:0000364	Hearing abnormality	6910	TBX5	ORPHA:101016
HP:0000364	Hearing abnormality	6336	SCN10A	ORPHA:101016
HP:0000364	Hearing abnormality	3757	KCNH2	ORPHA:101016
HP:0000364	Hearing abnormality	9992	KCNE2	ORPHA:101016
HP:0000364	Hearing abnormality	10142	AKAP9	ORPHA:101016
HP:0000364	Hearing abnormality	9722	NOS1AP	ORPHA:101016
HP:0000364	Hearing abnormality	775	CACNA1C	ORPHA:101016
HP:0000364	Hearing abnormality	3784	KCNQ1	ORPHA:101016
HP:0000364	Hearing abnormality	10345	TRDN	ORPHA:101016
HP:0000364	Hearing abnormality	6331	SCN5A	ORPHA:101016
HP:0000364	Hearing abnormality	6330	SCN4B	ORPHA:101016
HP:0000364	Hearing abnormality	808	CALM3	ORPHA:101016
HP:0000364	Hearing abnormality	6640	SNTA1	ORPHA:101016
HP:0000364	Hearing abnormality	859	CAV3	ORPHA:101016
HP:0000364	Hearing abnormality	287	ANK2	ORPHA:101016
HP:0000364	Hearing abnormality	473	RERE	ORPHA:494344
HP:0000364	Hearing abnormality	5980	REV3L	ORPHA:570
HP:0000364	Hearing abnormality	23129	PLXND1	ORPHA:570
HP:0000364	Hearing abnormality	4784	NFIX	OMIM:602535
HP:0000364	Hearing abnormality	51434	ANAPC7	OMIM:619699
HP:0000364	Hearing abnormality	4998	ORC1	OMIM:224690
HP:0000364	Hearing abnormality	4998	ORC1	ORPHA:2554
HP:0000364	Hearing abnormality	4052	LTBP1	OMIM:619451
HP:0000364	Hearing abnormality	84068	SLC10A7	OMIM:618363
HP:0000364	Hearing abnormality	3756	KCNH1	OMIM:135500
HP:0000364	Hearing abnormality	50945	TBX22	OMIM:302905
HP:0000364	Hearing abnormality	201163	FLCN	OMIM:610883
HP:0000364	Hearing abnormality	1312	COMT	ORPHA:567
HP:0000364	Hearing abnormality	221037	JMJD1C	ORPHA:567
HP:0000364	Hearing abnormality	2812	GP1BB	ORPHA:567
HP:0000364	Hearing abnormality	6239	RREB1	ORPHA:567
HP:0000364	Hearing abnormality	6899	TBX1	ORPHA:567
HP:0000364	Hearing abnormality	6899	TBX1	ORPHA:1727
HP:0000364	Hearing abnormality	7290	HIRA	ORPHA:567
HP:0000364	Hearing abnormality	9632	SEC24C	ORPHA:567
HP:0000364	Hearing abnormality	7353	UFD1	ORPHA:567
HP:0000364	Hearing abnormality	421	ARVCF	ORPHA:567
HP:0000364	Hearing abnormality	2717	GLA	ORPHA:324
HP:0000364	Hearing abnormality	773	CACNA1A	ORPHA:569
HP:0000364	Hearing abnormality	112476	PRRT2	ORPHA:569
HP:0000364	Hearing abnormality	6323	SCN1A	ORPHA:569
HP:0000364	Hearing abnormality	477	ATP1A2	ORPHA:569
HP:0000364	Hearing abnormality	8260	NAA10	ORPHA:568
HP:0000364	Hearing abnormality	8260	NAA10	OMIM:309800
HP:0000364	Hearing abnormality	9132	KCNQ4	OMIM:600101
HP:0000364	Hearing abnormality	2778	GNAS	ORPHA:562
HP:0000364	Hearing abnormality	2778	GNAS	OMIM:174800
HP:0000364	Hearing abnormality	9935	MAFB	OMIM:617041
HP:0000364	Hearing abnormality	9935	MAFB	ORPHA:233
HP:0000364	Hearing abnormality	4613	MYCN	OMIM:164280
HP:0000364	Hearing abnormality	2065	ERBB3	OMIM:243180
HP:0000364	Hearing abnormality	1277	COL1A1	OMIM:166220
HP:0000364	Hearing abnormality	1277	COL1A1	OMIM:166200
HP:0000364	Hearing abnormality	1277	COL1A1	OMIM:259420
HP:0000364	Hearing abnormality	1278	COL1A2	OMIM:166220
HP:0000364	Hearing abnormality	1278	COL1A2	OMIM:259420
HP:0000364	Hearing abnormality	9401	RECQL4	OMIM:266280
HP:0000364	Hearing abnormality	2707	GJB3	ORPHA:317
HP:0000364	Hearing abnormality	2531	KDSR	ORPHA:317
HP:0000364	Hearing abnormality	127534	GJB4	ORPHA:317
HP:0000364	Hearing abnormality	3028	HSD17B10	ORPHA:391428
HP:0000364	Hearing abnormality	6390	SDHB	ORPHA:97286
HP:0000364	Hearing abnormality	6390	SDHB	ORPHA:201
HP:0000364	Hearing abnormality	6391	SDHC	ORPHA:97286
HP:0000364	Hearing abnormality	6391	SDHC	ORPHA:201
HP:0000364	Hearing abnormality	6392	SDHD	ORPHA:97286
HP:0000364	Hearing abnormality	6392	SDHD	ORPHA:201
HP:0000364	Hearing abnormality	134218	DNAJC21	OMIM:617052
HP:0000364	Hearing abnormality	134218	DNAJC21	ORPHA:811
HP:0000364	Hearing abnormality	64840	PORCN	ORPHA:2092
HP:0000364	Hearing abnormality	94005	PIGS	OMIM:618143
HP:0000364	Hearing abnormality	6711	SPTBN1	OMIM:619475
HP:0000364	Hearing abnormality	1285	COL4A3	OMIM:203780
HP:0000364	Hearing abnormality	1285	COL4A3	OMIM:104200
HP:0000364	Hearing abnormality	1286	COL4A4	OMIM:203780
HP:0000364	Hearing abnormality	10413	YAP1	OMIM:120433
HP:0000364	Hearing abnormality	5184	PEPD	ORPHA:742
HP:0000364	Hearing abnormality	25839	COG4	OMIM:618150
HP:0000364	Hearing abnormality	51360	MBTPS2	OMIM:308205
HP:0000364	Hearing abnormality	51360	MBTPS2	ORPHA:85284
HP:0000364	Hearing abnormality	51360	MBTPS2	OMIM:301014
HP:0000364	Hearing abnormality	6872	TAF1	OMIM:300966
HP:0000364	Hearing abnormality	6872	TAF1	ORPHA:480907
HP:0000364	Hearing abnormality	8567	MADD	OMIM:619004
HP:0000364	Hearing abnormality	374879	ZNF699	OMIM:619488
HP:0000364	Hearing abnormality	8239	USP9X	OMIM:300968
HP:0000364	Hearing abnormality	8239	USP9X	ORPHA:480880
HP:0000364	Hearing abnormality	8318	CDC45	OMIM:617063
HP:0000364	Hearing abnormality	8318	CDC45	ORPHA:2554
HP:0000364	Hearing abnormality	23112	TNRC6B	OMIM:619243
HP:0000364	Hearing abnormality	1654	DDX3X	OMIM:300958
HP:0000364	Hearing abnormality	1654	DDX3X	ORPHA:457260
HP:0000364	Hearing abnormality	6663	SOX10	OMIM:609136
HP:0000364	Hearing abnormality	6663	SOX10	ORPHA:897
HP:0000364	Hearing abnormality	6663	SOX10	ORPHA:895
HP:0000364	Hearing abnormality	2799	GNS	OMIM:252940
HP:0000364	Hearing abnormality	50964	SOST	OMIM:122860
HP:0000364	Hearing abnormality	50964	SOST	OMIM:269500
HP:0000364	Hearing abnormality	55670	PEX26	ORPHA:772
HP:0000364	Hearing abnormality	5824	PEX19	ORPHA:772
HP:0000364	Hearing abnormality	5828	PEX2	ORPHA:772
HP:0000364	Hearing abnormality	5828	PEX2	OMIM:614866
HP:0000364	Hearing abnormality	8504	PEX3	ORPHA:772
HP:0000364	Hearing abnormality	9409	PEX16	ORPHA:772
HP:0000364	Hearing abnormality	5190	PEX6	ORPHA:772
HP:0000364	Hearing abnormality	5190	PEX6	ORPHA:95433
HP:0000364	Hearing abnormality	5190	PEX6	ORPHA:3220
HP:0000364	Hearing abnormality	8799	PEX11B	ORPHA:772
HP:0000364	Hearing abnormality	5830	PEX5	ORPHA:772
HP:0000364	Hearing abnormality	5189	PEX1	ORPHA:772
HP:0000364	Hearing abnormality	5189	PEX1	ORPHA:3220
HP:0000364	Hearing abnormality	5189	PEX1	OMIM:214100
HP:0000364	Hearing abnormality	5193	PEX12	ORPHA:772
HP:0000364	Hearing abnormality	5194	PEX13	ORPHA:772
HP:0000364	Hearing abnormality	5194	PEX13	OMIM:614885
HP:0000364	Hearing abnormality	5195	PEX14	ORPHA:772
HP:0000364	Hearing abnormality	5192	PEX10	ORPHA:772
HP:0000364	Hearing abnormality	10084	PQBP1	OMIM:309500
HP:0000364	Hearing abnormality	4256	MGP	OMIM:245150
HP:0000364	Hearing abnormality	4256	MGP	ORPHA:85202
HP:0000364	Hearing abnormality	5745	PTH1R	OMIM:156400
HP:0000364	Hearing abnormality	84231	TRAF7	OMIM:618164
HP:0000364	Hearing abnormality	10273	STUB1	ORPHA:412057
HP:0000364	Hearing abnormality	84464	SLX4	OMIM:613951
HP:0000364	Hearing abnormality	84464	SLX4	ORPHA:84
HP:0000364	Hearing abnormality	138050	HGSNAT	OMIM:252930
HP:0000364	Hearing abnormality	617	BCS1L	ORPHA:53693
HP:0000364	Hearing abnormality	617	BCS1L	OMIM:124000
HP:0000364	Hearing abnormality	253827	MSRB3	OMIM:613718
HP:0000364	Hearing abnormality	116150	NUS1	OMIM:617082
HP:0000364	Hearing abnormality	55181	SMG8	OMIM:619268
HP:0000364	Hearing abnormality	9927	MFN2	OMIM:617087
HP:0000364	Hearing abnormality	9927	MFN2	OMIM:609260
HP:0000364	Hearing abnormality	84168	ANTXR1	ORPHA:2067
HP:0000364	Hearing abnormality	27445	PCLO	OMIM:608027
HP:0000364	Hearing abnormality	6342	SCP2	OMIM:613724
HP:0000364	Hearing abnormality	4669	NAGLU	OMIM:252920
HP:0000364	Hearing abnormality	8085	KMT2D	OMIM:147920
HP:0000364	Hearing abnormality	7403	KDM6A	OMIM:147920
HP:0000364	Hearing abnormality	7403	KDM6A	OMIM:300867
HP:0000364	Hearing abnormality	6309	SC5D	ORPHA:46059
HP:0000364	Hearing abnormality	2070	EYA4	ORPHA:217622
HP:0000364	Hearing abnormality	128674	PROKR2	OMIM:244200
HP:0000364	Hearing abnormality	246243	RNASEH1	ORPHA:329336
HP:0000364	Hearing abnormality	10312	TCIRG1	OMIM:259700
HP:0000364	Hearing abnormality	10312	TCIRG1	ORPHA:667
HP:0000364	Hearing abnormality	10312	TCIRG1	ORPHA:1782
HP:0000364	Hearing abnormality	84282	RNF135	ORPHA:137634
HP:0000364	Hearing abnormality	324	APC	ORPHA:99818
HP:0000364	Hearing abnormality	324	APC	ORPHA:3258
HP:0000364	Hearing abnormality	10466	COG5	OMIM:613612
HP:0000364	Hearing abnormality	10667	FARS2	OMIM:614946
HP:0000364	Hearing abnormality	64324	NSD1	ORPHA:821
HP:0000364	Hearing abnormality	29072	SETD2	ORPHA:821
HP:0000364	Hearing abnormality	29072	SETD2	OMIM:620157
HP:0000364	Hearing abnormality	10297	APC2	ORPHA:821
HP:0000364	Hearing abnormality	4552	MTRR	ORPHA:2169
HP:0000364	Hearing abnormality	4884	NPTX1	OMIM:620158
HP:0000364	Hearing abnormality	4038	LRP4	ORPHA:3258
HP:0000364	Hearing abnormality	4038	LRP4	OMIM:614305
HP:0000364	Hearing abnormality	79631	EFL1	ORPHA:811
HP:0000364	Hearing abnormality	51119	SBDS	ORPHA:811
HP:0000364	Hearing abnormality	6729	SRP54	ORPHA:811
HP:0000364	Hearing abnormality	6197	RPS6KA3	OMIM:303600
HP:0000364	Hearing abnormality	23347	SMCHD1	OMIM:158901
HP:0000364	Hearing abnormality	50814	NSDHL	OMIM:308050
HP:0000364	Hearing abnormality	23522	KAT6B	OMIM:606170
HP:0000364	Hearing abnormality	23522	KAT6B	ORPHA:85201
HP:0000364	Hearing abnormality	23522	KAT6B	OMIM:603736
HP:0000364	Hearing abnormality	92579	G6PC3	OMIM:612541
HP:0000364	Hearing abnormality	55157	DARS2	ORPHA:137898
HP:0000364	Hearing abnormality	672	BRCA1	ORPHA:84
HP:0000364	Hearing abnormality	10459	MAD2L2	ORPHA:84
HP:0000364	Hearing abnormality	7516	XRCC2	ORPHA:84
HP:0000364	Hearing abnormality	29089	UBE2T	ORPHA:84
HP:0000364	Hearing abnormality	29089	UBE2T	OMIM:616435
HP:0000364	Hearing abnormality	675	BRCA2	ORPHA:84
HP:0000364	Hearing abnormality	55120	FANCL	ORPHA:84
HP:0000364	Hearing abnormality	2177	FANCD2	ORPHA:84
HP:0000364	Hearing abnormality	2177	FANCD2	OMIM:227646
HP:0000364	Hearing abnormality	2175	FANCA	ORPHA:84
HP:0000364	Hearing abnormality	2175	FANCA	OMIM:227650
HP:0000364	Hearing abnormality	2187	FANCB	ORPHA:84
HP:0000364	Hearing abnormality	2176	FANCC	ORPHA:84
HP:0000364	Hearing abnormality	2176	FANCC	OMIM:227645
HP:0000364	Hearing abnormality	2178	FANCE	ORPHA:84
HP:0000364	Hearing abnormality	2178	FANCE	OMIM:600901
HP:0000364	Hearing abnormality	2188	FANCF	ORPHA:84
HP:0000364	Hearing abnormality	2189	FANCG	ORPHA:84
HP:0000364	Hearing abnormality	5888	RAD51	ORPHA:84
HP:0000364	Hearing abnormality	5889	RAD51C	ORPHA:84
HP:0000364	Hearing abnormality	55159	RFWD3	ORPHA:84
HP:0000364	Hearing abnormality	83990	BRIP1	ORPHA:84
HP:0000364	Hearing abnormality	57697	FANCM	ORPHA:84
HP:0000364	Hearing abnormality	79728	PALB2	ORPHA:84
HP:0000364	Hearing abnormality	2072	ERCC4	ORPHA:84
HP:0000364	Hearing abnormality	2072	ERCC4	ORPHA:90321
HP:0000364	Hearing abnormality	2072	ERCC4	OMIM:610965
HP:0000364	Hearing abnormality	2072	ERCC4	ORPHA:910
HP:0000364	Hearing abnormality	2072	ERCC4	OMIM:278760
HP:0000364	Hearing abnormality	2072	ERCC4	ORPHA:220295
HP:0000364	Hearing abnormality	55215	FANCI	ORPHA:84
HP:0000364	Hearing abnormality	2260	FGFR1	ORPHA:93258
HP:0000364	Hearing abnormality	10367	MICU1	ORPHA:401768
HP:0000364	Hearing abnormality	6687	SPG7	OMIM:607259
HP:0000364	Hearing abnormality	215	ABCD1	OMIM:300100
HP:0000364	Hearing abnormality	215	ABCD1	ORPHA:139396
HP:0000364	Hearing abnormality	9896	FIG4	ORPHA:3472
HP:0000364	Hearing abnormality	9896	FIG4	ORPHA:208441
HP:0000364	Hearing abnormality	55697	VAC14	ORPHA:3472
HP:0000364	Hearing abnormality	9445	ITM2B	OMIM:117300
HP:0000364	Hearing abnormality	9184	BUB3	ORPHA:1052
HP:0000364	Hearing abnormality	699	BUB1	ORPHA:1052
HP:0000364	Hearing abnormality	9702	CEP57	ORPHA:1052
HP:0000364	Hearing abnormality	9702	CEP57	OMIM:614114
HP:0000364	Hearing abnormality	9319	TRIP13	ORPHA:1052
HP:0000364	Hearing abnormality	701	BUB1B	ORPHA:1052
HP:0000364	Hearing abnormality	1906	EDN1	ORPHA:137888
HP:0000364	Hearing abnormality	5332	PLCB4	ORPHA:137888
HP:0000364	Hearing abnormality	5332	PLCB4	OMIM:614669
HP:0000364	Hearing abnormality	2773	GNAI3	ORPHA:137888
HP:0000364	Hearing abnormality	25942	SIN3A	OMIM:613406
HP:0000364	Hearing abnormality	25942	SIN3A	ORPHA:500166
HP:0000364	Hearing abnormality	25942	SIN3A	ORPHA:94065
HP:0000364	Hearing abnormality	3425	IDUA	OMIM:607014
HP:0000364	Hearing abnormality	3425	IDUA	ORPHA:93473
HP:0000364	Hearing abnormality	9487	PIGL	ORPHA:3474
HP:0000364	Hearing abnormality	113278	SLC52A3	OMIM:211530
HP:0000364	Hearing abnormality	2395	FXN	ORPHA:95
HP:0000364	Hearing abnormality	3475	IFRD1	ORPHA:98771
HP:0000364	Hearing abnormality	3735	KARS1	OMIM:619196
HP:0000364	Hearing abnormality	1798	DPAGT1	ORPHA:86309
HP:0000364	Hearing abnormality	3769	KCNJ13	ORPHA:65
HP:0000364	Hearing abnormality	343035	RD3	ORPHA:65
HP:0000364	Hearing abnormality	145226	RDH12	ORPHA:65
HP:0000364	Hearing abnormality	1406	CRX	ORPHA:65
HP:0000364	Hearing abnormality	64802	NMNAT1	ORPHA:65
HP:0000364	Hearing abnormality	57096	RPGRIP1	ORPHA:65
HP:0000364	Hearing abnormality	10383	TUBB4B	ORPHA:65
HP:0000364	Hearing abnormality	9742	IFT140	ORPHA:65
HP:0000364	Hearing abnormality	85015	USP45	ORPHA:65
HP:0000364	Hearing abnormality	6121	RPE65	ORPHA:65
HP:0000364	Hearing abnormality	23418	CRB1	ORPHA:65
HP:0000364	Hearing abnormality	5130	PCYT1A	ORPHA:65
HP:0000364	Hearing abnormality	9657	IQCB1	ORPHA:65
HP:0000364	Hearing abnormality	392255	GDF6	ORPHA:65
HP:0000364	Hearing abnormality	392255	GDF6	ORPHA:2345
HP:0000364	Hearing abnormality	392255	GDF6	OMIM:118100
HP:0000364	Hearing abnormality	23746	AIPL1	ORPHA:65
HP:0000364	Hearing abnormality	3000	GUCY2D	ORPHA:65
HP:0000364	Hearing abnormality	9227	LRAT	ORPHA:65
HP:0000364	Hearing abnormality	55812	SPATA7	ORPHA:65
HP:0000364	Hearing abnormality	7287	TULP1	ORPHA:65
HP:0000364	Hearing abnormality	167691	LCA5	ORPHA:65
HP:0000364	Hearing abnormality	3614	IMPDH1	ORPHA:65
HP:0000364	Hearing abnormality	7025	NR2F1	ORPHA:401777
HP:0000364	Hearing abnormality	114548	NLRP3	OMIM:191900
HP:0000364	Hearing abnormality	114548	NLRP3	ORPHA:1451
HP:0000364	Hearing abnormality	114548	NLRP3	OMIM:120100
HP:0000364	Hearing abnormality	114548	NLRP3	OMIM:607115
HP:0000364	Hearing abnormality	6135	RPL11	OMIM:612562
HP:0000364	Hearing abnormality	5376	PMP22	OMIM:118220
HP:0000364	Hearing abnormality	3035	HARS1	OMIM:614504
HP:0000364	Hearing abnormality	84720	PIGO	OMIM:614749
HP:0000364	Hearing abnormality	3748	KCNC3	ORPHA:98768
HP:0000364	Hearing abnormality	3748	KCNC3	OMIM:605259
HP:0000364	Hearing abnormality	10907	TXNL4A	OMIM:608572
HP:0000364	Hearing abnormality	2255	FGF10	OMIM:620193
HP:0000364	Hearing abnormality	4036	LRP2	OMIM:222448
HP:0000364	Hearing abnormality	79228	THOC6	ORPHA:363444
HP:0000364	Hearing abnormality	2934	GSN	ORPHA:85448
HP:0000364	Hearing abnormality	8481	OFD1	OMIM:311200
HP:0000364	Hearing abnormality	8481	OFD1	ORPHA:2750
HP:0000364	Hearing abnormality	8481	OFD1	ORPHA:244
HP:0000364	Hearing abnormality	415	ARSL	OMIM:302950
HP:0000364	Hearing abnormality	64116	SLC39A8	ORPHA:468699
HP:0000364	Hearing abnormality	64116	SLC39A8	OMIM:616721
HP:0000364	Hearing abnormality	10682	EBP	OMIM:302960
HP:0000364	Hearing abnormality	1186	CLCN7	ORPHA:53
HP:0000364	Hearing abnormality	1186	CLCN7	ORPHA:667
HP:0000364	Hearing abnormality	9573	GDF3	ORPHA:2345
HP:0000364	Hearing abnormality	4222	MEOX1	ORPHA:2345
HP:0000364	Hearing abnormality	7319	UBE2A	ORPHA:163956
HP:0000364	Hearing abnormality	9894	TELO2	OMIM:616954
HP:0000364	Hearing abnormality	9894	TELO2	ORPHA:488642
HP:0000364	Hearing abnormality	4089	SMAD4	ORPHA:2588
HP:0000364	Hearing abnormality	4089	SMAD4	OMIM:139210
HP:0000364	Hearing abnormality	10075	HUWE1	OMIM:309590
HP:0000364	Hearing abnormality	10735	STAG2	OMIM:301043
HP:0000364	Hearing abnormality	84627	ZNF469	OMIM:229200
HP:0000364	Hearing abnormality	5648	MASP1	OMIM:257920
HP:0000364	Hearing abnormality	5648	MASP1	ORPHA:293843
HP:0000364	Hearing abnormality	55593	OTUD5	OMIM:301056
HP:0000364	Hearing abnormality	79587	CARS2	ORPHA:477774
HP:0000364	Hearing abnormality	79587	CARS2	OMIM:616672
HP:0000364	Hearing abnormality	10229	COQ7	OMIM:616733
HP:0000364	Hearing abnormality	83479	DDX59	OMIM:174300
HP:0000364	Hearing abnormality	5076	PAX2	ORPHA:1475
HP:0000364	Hearing abnormality	117581	TWIST2	ORPHA:1231
HP:0000364	Hearing abnormality	117581	TWIST2	OMIM:209885
HP:0000364	Hearing abnormality	117581	TWIST2	OMIM:200110
HP:0000364	Hearing abnormality	117581	TWIST2	ORPHA:920
HP:0000364	Hearing abnormality	4000	LMNA	ORPHA:90153
HP:0000364	Hearing abnormality	10651	MTX2	ORPHA:90153
HP:0000364	Hearing abnormality	85358	SHANK3	ORPHA:48652
HP:0000364	Hearing abnormality	85358	SHANK3	OMIM:606232
HP:0000364	Hearing abnormality	6597	SMARCA4	ORPHA:1465
HP:0000364	Hearing abnormality	6597	SMARCA4	OMIM:614609
HP:0000364	Hearing abnormality	6598	SMARCB1	ORPHA:1465
HP:0000364	Hearing abnormality	6598	SMARCB1	OMIM:614608
HP:0000364	Hearing abnormality	6659	SOX4	ORPHA:1465
HP:0000364	Hearing abnormality	8289	ARID1A	ORPHA:1465
HP:0000364	Hearing abnormality	8289	ARID1A	OMIM:614607
HP:0000364	Hearing abnormality	5977	DPF2	ORPHA:1465
HP:0000364	Hearing abnormality	5977	DPF2	OMIM:618027
HP:0000364	Hearing abnormality	6601	SMARCC2	ORPHA:1465
HP:0000364	Hearing abnormality	6602	SMARCD1	ORPHA:1465
HP:0000364	Hearing abnormality	57492	ARID1B	ORPHA:1465
HP:0000364	Hearing abnormality	57492	ARID1B	OMIM:135900
HP:0000364	Hearing abnormality	196528	ARID2	ORPHA:1465
HP:0000364	Hearing abnormality	6605	SMARCE1	ORPHA:1465
HP:0000364	Hearing abnormality	6664	SOX11	ORPHA:1465
HP:0000364	Hearing abnormality	2917	GRM7	OMIM:618922
HP:0000364	Hearing abnormality	81620	CDT1	ORPHA:2554
HP:0000364	Hearing abnormality	5000	ORC4	ORPHA:2554
HP:0000364	Hearing abnormality	23594	ORC6	ORPHA:2554
HP:0000364	Hearing abnormality	990	CDC6	ORPHA:2554
HP:0000364	Hearing abnormality	51053	GMNN	ORPHA:2554
HP:0000364	Hearing abnormality	54539	NDUFB11	ORPHA:2556
HP:0000364	Hearing abnormality	54539	NDUFB11	OMIM:309801
HP:0000364	Hearing abnormality	1349	COX7B	ORPHA:2556
HP:0000364	Hearing abnormality	1349	COX7B	OMIM:309801
HP:0000364	Hearing abnormality	3052	HCCS	ORPHA:2556
HP:0000364	Hearing abnormality	3052	HCCS	OMIM:309801
HP:0000364	Hearing abnormality	4982	TNFRSF11B	OMIM:239000
HP:0000364	Hearing abnormality	4982	TNFRSF11B	ORPHA:2801
HP:0000364	Hearing abnormality	10943	MSL3	OMIM:301032
HP:0000364	Hearing abnormality	860	RUNX2	ORPHA:1452
HP:0000364	Hearing abnormality	860	RUNX2	OMIM:119600
HP:0000364	Hearing abnormality	4758	NEU1	ORPHA:93400
HP:0000364	Hearing abnormality	4758	NEU1	ORPHA:93399
HP:0000364	Hearing abnormality	71	ACTG1	OMIM:614583
HP:0000364	Hearing abnormality	5167	ENPP1	ORPHA:51608
HP:0000364	Hearing abnormality	368	ABCC6	ORPHA:51608
HP:0000364	Hearing abnormality	7249	TSC2	OMIM:613254
HP:0000364	Hearing abnormality	3458	IFNG	OMIM:613254
HP:0000364	Hearing abnormality	998	CDC42	ORPHA:487796
HP:0000364	Hearing abnormality	10804	GJB6	ORPHA:189
HP:0000364	Hearing abnormality	10804	GJB6	OMIM:612645
HP:0000364	Hearing abnormality	1836	SLC26A2	OMIM:222600
HP:0000364	Hearing abnormality	1836	SLC26A2	ORPHA:628
HP:0000364	Hearing abnormality	55617	TASP1	OMIM:618950
HP:0000364	Hearing abnormality	114928	GPRASP2	OMIM:301018
HP:0000364	Hearing abnormality	1786	DNMT1	OMIM:614116
HP:0000364	Hearing abnormality	6389	SDHA	ORPHA:255241
HP:0000364	Hearing abnormality	80704	SLC19A3	ORPHA:255241
HP:0000364	Hearing abnormality	91942	NDUFAF2	ORPHA:255241
HP:0000364	Hearing abnormality	6834	SURF1	ORPHA:255241
HP:0000364	Hearing abnormality	6834	SURF1	OMIM:616684
HP:0000364	Hearing abnormality	6834	SURF1	ORPHA:70474
HP:0000364	Hearing abnormality	4723	NDUFV1	ORPHA:255241
HP:0000364	Hearing abnormality	55572	FOXRED1	ORPHA:255241
HP:0000364	Hearing abnormality	4729	NDUFV2	ORPHA:255241
HP:0000364	Hearing abnormality	55967	NDUFA12	ORPHA:255241
HP:0000364	Hearing abnormality	51204	TACO1	ORPHA:255241
HP:0000364	Hearing abnormality	4720	NDUFS2	ORPHA:255241
HP:0000364	Hearing abnormality	4720	NDUFS2	ORPHA:70474
HP:0000364	Hearing abnormality	4724	NDUFS4	ORPHA:255241
HP:0000364	Hearing abnormality	4728	NDUFS8	ORPHA:255241
HP:0000364	Hearing abnormality	137682	NDUFAF6	ORPHA:255241
HP:0000364	Hearing abnormality	4722	NDUFS3	ORPHA:255241
HP:0000364	Hearing abnormality	79133	NDUFAF5	ORPHA:255241
HP:0000364	Hearing abnormality	5160	PDHA1	ORPHA:255241
HP:0000364	Hearing abnormality	100131801	PET100	ORPHA:255241
HP:0000364	Hearing abnormality	1355	COX15	ORPHA:255241
HP:0000364	Hearing abnormality	1892	ECHS1	ORPHA:255241
HP:0000364	Hearing abnormality	1892	ECHS1	OMIM:616277
HP:0000364	Hearing abnormality	123263	MTFMT	ORPHA:255241
HP:0000364	Hearing abnormality	51079	NDUFA13	ORPHA:255241
HP:0000364	Hearing abnormality	51079	NDUFA13	OMIM:618249
HP:0000364	Hearing abnormality	374291	NDUFS7	ORPHA:255241
HP:0000364	Hearing abnormality	4705	NDUFA10	ORPHA:255241
HP:0000364	Hearing abnormality	51601	LIPT1	ORPHA:255241
HP:0000364	Hearing abnormality	4719	NDUFS1	ORPHA:255241
HP:0000364	Hearing abnormality	4695	NDUFA2	ORPHA:255241
HP:0000364	Hearing abnormality	4697	NDUFA4	ORPHA:255241
HP:0000364	Hearing abnormality	4704	NDUFA9	ORPHA:255241
HP:0000364	Hearing abnormality	4704	NDUFA9	OMIM:618247
HP:0000364	Hearing abnormality	4094	MAF	OMIM:601088
HP:0000364	Hearing abnormality	259266	ASPM	OMIM:608716
HP:0000364	Hearing abnormality	6651	SON	ORPHA:500150
HP:0000364	Hearing abnormality	23558	WBP2	OMIM:617639
HP:0000364	Hearing abnormality	64787	EPS8L2	OMIM:617637
HP:0000364	Hearing abnormality	79784	MYH14	OMIM:614369
HP:0000364	Hearing abnormality	4621	MYH3	ORPHA:2990
HP:0000364	Hearing abnormality	4621	MYH3	OMIM:178110
HP:0000364	Hearing abnormality	4621	MYH3	OMIM:193700
HP:0000364	Hearing abnormality	4621	MYH3	ORPHA:2053
HP:0000364	Hearing abnormality	1146	CHRNG	ORPHA:2990
HP:0000364	Hearing abnormality	5286	PIK3C2A	ORPHA:557003
HP:0000364	Hearing abnormality	5286	PIK3C2A	OMIM:618440
HP:0000364	Hearing abnormality	5205	ATP8B1	OMIM:243300
HP:0000364	Hearing abnormality	87178	PNPT1	OMIM:608703
HP:0000364	Hearing abnormality	87178	PNPT1	OMIM:614934
HP:0000364	Hearing abnormality	23309	SIN3B	ORPHA:500166
HP:0000364	Hearing abnormality	1468	SLC25A10	OMIM:618972
HP:0000364	Hearing abnormality	5087	PBX1	OMIM:617641
HP:0000364	Hearing abnormality	4747	NEFL	OMIM:617882
HP:0000364	Hearing abnormality	389207	GRXCR1	OMIM:613285
HP:0000364	Hearing abnormality	4281	MID1	ORPHA:2745
HP:0000364	Hearing abnormality	8398	PLA2G6	OMIM:256600
HP:0000364	Hearing abnormality	242	ALOX12B	ORPHA:79394
HP:0000364	Hearing abnormality	204219	CERS3	ORPHA:79394
HP:0000364	Hearing abnormality	26154	ABCA12	ORPHA:79394
HP:0000364	Hearing abnormality	285848	PNPLA1	ORPHA:79394
HP:0000364	Hearing abnormality	59344	ALOXE3	ORPHA:79394
HP:0000364	Hearing abnormality	348938	NIPAL4	ORPHA:79394
HP:0000364	Hearing abnormality	7051	TGM1	ORPHA:79394
HP:0000364	Hearing abnormality	352909	DNAAF3	OMIM:606763
HP:0000364	Hearing abnormality	352909	DNAAF3	ORPHA:244
HP:0000364	Hearing abnormality	10617	STAMBP	OMIM:614261
HP:0000364	Hearing abnormality	8367	H4C5	OMIM:619950
HP:0000364	Hearing abnormality	8294	H4C9	OMIM:619951
HP:0000364	Hearing abnormality	55823	VPS11	OMIM:616683
HP:0000364	Hearing abnormality	22880	MORC2	OMIM:616688
HP:0000364	Hearing abnormality	22880	MORC2	OMIM:619090
HP:0000364	Hearing abnormality	22880	MORC2	ORPHA:466768
HP:0000364	Hearing abnormality	4047	LSS	ORPHA:2850
HP:0000364	Hearing abnormality	197	AHSG	ORPHA:2850
HP:0000364	Hearing abnormality	3694	ITGB6	ORPHA:2850
HP:0000364	Hearing abnormality	1161	ERCC8	ORPHA:90321
HP:0000364	Hearing abnormality	1161	ERCC8	ORPHA:90322
HP:0000364	Hearing abnormality	2074	ERCC6	ORPHA:90321
HP:0000364	Hearing abnormality	2074	ERCC6	ORPHA:90322
HP:0000364	Hearing abnormality	2067	ERCC1	ORPHA:90322
HP:0000364	Hearing abnormality	6720	SREBF1	OMIM:158310
HP:0000364	Hearing abnormality	114803	MYSM1	ORPHA:508542
HP:0000364	Hearing abnormality	4522	MTHFD1	OMIM:617780
HP:0000364	Hearing abnormality	3021	H3-3B	OMIM:619721
HP:0000364	Hearing abnormality	79639	TMEM53	OMIM:619727
HP:0000364	Hearing abnormality	23562	CLDN14	OMIM:614035
HP:0000364	Hearing abnormality	10730	YME1L1	OMIM:617302
HP:0000364	Hearing abnormality	7086	TKT	ORPHA:488618
HP:0000364	Hearing abnormality	137492	VPS37A	ORPHA:319199
HP:0000364	Hearing abnormality	10584	COLEC10	OMIM:248340
HP:0000364	Hearing abnormality	10584	COLEC10	ORPHA:293843
HP:0000364	Hearing abnormality	284058	KANSL1	ORPHA:363958
HP:0000364	Hearing abnormality	284058	KANSL1	ORPHA:363965
HP:0000364	Hearing abnormality	9469	CHST3	OMIM:143095
HP:0000364	Hearing abnormality	91869	RFT1	ORPHA:244310
HP:0000364	Hearing abnormality	7021	TFAP2B	ORPHA:46627
HP:0000364	Hearing abnormality	90993	CREB3L1	OMIM:616229
HP:0000364	Hearing abnormality	1009	CDH11	OMIM:619736
HP:0000364	Hearing abnormality	64359	NXN	ORPHA:1507
HP:0000364	Hearing abnormality	4920	ROR2	ORPHA:1507
HP:0000364	Hearing abnormality	7020	TFAP2A	OMIM:113620
HP:0000364	Hearing abnormality	652	BMP4	OMIM:607932
HP:0000364	Hearing abnormality	10815	CPLX1	ORPHA:280
HP:0000364	Hearing abnormality	54872	PIGG	ORPHA:280
HP:0000364	Hearing abnormality	7469	NELFA	ORPHA:280
HP:0000364	Hearing abnormality	1487	CTBP1	ORPHA:280
HP:0000364	Hearing abnormality	3954	LETM1	ORPHA:280
HP:0000364	Hearing abnormality	7468	NSD2	ORPHA:280
HP:0000364	Hearing abnormality	22872	SEC31A	OMIM:618651
HP:0000364	Hearing abnormality	7466	WFS1	OMIM:614296
HP:0000364	Hearing abnormality	56992	KIF15	OMIM:619981
HP:0000364	Hearing abnormality	57178	ZMIZ1	OMIM:618659
HP:0000364	Hearing abnormality	79731	NARS2	OMIM:616239
HP:0000364	Hearing abnormality	55623	THUMPD1	OMIM:619989
HP:0000364	Hearing abnormality	3476	IGBP1	ORPHA:52055
HP:0000364	Hearing abnormality	1123	CHN1	ORPHA:233
HP:0000364	Hearing abnormality	3981	LIG4	ORPHA:235
HP:0000364	Hearing abnormality	54888	NSUN2	ORPHA:235
HP:0000364	Hearing abnormality	79633	FAT4	OMIM:616006
HP:0000364	Hearing abnormality	79633	FAT4	OMIM:615546
HP:0000364	Hearing abnormality	54902	TTC19	OMIM:615157
HP:0000364	Hearing abnormality	25981	DNAH1	OMIM:617577
HP:0000364	Hearing abnormality	25981	DNAH1	ORPHA:244
HP:0000364	Hearing abnormality	285362	SUMF1	OMIM:272200
HP:0000364	Hearing abnormality	26137	ZBTB20	OMIM:259050
HP:0000364	Hearing abnormality	54928	BPNT2	OMIM:614078
HP:0000364	Hearing abnormality	8792	TNFRSF11A	ORPHA:2801
HP:0000364	Hearing abnormality	8792	TNFRSF11A	ORPHA:1782
HP:0000364	Hearing abnormality	8878	SQSTM1	OMIM:167250
HP:0000364	Hearing abnormality	8878	SQSTM1	OMIM:617145
HP:0000364	Hearing abnormality	10743	RAI1	ORPHA:1713
HP:0000364	Hearing abnormality	10743	RAI1	OMIM:182290
HP:0000364	Hearing abnormality	5459	POU4F3	OMIM:602459
HP:0000364	Hearing abnormality	2706	GJB2	ORPHA:494
HP:0000364	Hearing abnormality	2706	GJB2	OMIM:124500
HP:0000364	Hearing abnormality	2706	GJB2	OMIM:149200
HP:0000364	Hearing abnormality	2706	GJB2	OMIM:148350
HP:0000364	Hearing abnormality	4123	MAN2C1	OMIM:619775
HP:0000364	Hearing abnormality	79989	IFT56	OMIM:619534
HP:0000364	Hearing abnormality	10195	ALG3	ORPHA:79321
HP:0000364	Hearing abnormality	60681	FKBP10	OMIM:610968
HP:0000364	Hearing abnormality	115948	ODAD3	ORPHA:244
HP:0000364	Hearing abnormality	54768	HYDIN	ORPHA:244
HP:0000364	Hearing abnormality	51314	NME8	ORPHA:244
HP:0000364	Hearing abnormality	92749	DRC1	ORPHA:244
HP:0000364	Hearing abnormality	54970	TTC12	ORPHA:244
HP:0000364	Hearing abnormality	152110	NEK10	ORPHA:244
HP:0000364	Hearing abnormality	2302	FOXJ1	ORPHA:244
HP:0000364	Hearing abnormality	221421	RSPH9	ORPHA:244
HP:0000364	Hearing abnormality	85478	CCDC65	ORPHA:244
HP:0000364	Hearing abnormality	55036	CCDC40	ORPHA:244
HP:0000364	Hearing abnormality	51364	ZMYND10	ORPHA:244
HP:0000364	Hearing abnormality	64446	DNAI2	ORPHA:244
HP:0000364	Hearing abnormality	6674	SPAG1	ORPHA:244
HP:0000364	Hearing abnormality	83544	DNAL1	ORPHA:244
HP:0000364	Hearing abnormality	89765	RSPH1	ORPHA:244
HP:0000364	Hearing abnormality	83538	ODAD4	ORPHA:244
HP:0000364	Hearing abnormality	200373	CFAP221	ORPHA:244
HP:0000364	Hearing abnormality	374407	DNAJB13	ORPHA:244
HP:0000364	Hearing abnormality	55172	DNAAF2	ORPHA:244
HP:0000364	Hearing abnormality	161582	DNAAF4	ORPHA:244
HP:0000364	Hearing abnormality	2622	GAS8	ORPHA:244
HP:0000364	Hearing abnormality	23639	DNAAF11	ORPHA:244
HP:0000364	Hearing abnormality	27019	DNAI1	ORPHA:244
HP:0000364	Hearing abnormality	345895	RSPH4A	ORPHA:244
HP:0000364	Hearing abnormality	54919	DNAAF5	ORPHA:244
HP:0000364	Hearing abnormality	6103	RPGR	ORPHA:244
HP:0000364	Hearing abnormality	388389	CCDC103	ORPHA:244
HP:0000364	Hearing abnormality	93233	ODAD1	ORPHA:244
HP:0000364	Hearing abnormality	55130	ODAD2	ORPHA:244
HP:0000364	Hearing abnormality	1767	DNAH5	ORPHA:244
HP:0000364	Hearing abnormality	83861	RSPH3	ORPHA:244
HP:0000364	Hearing abnormality	345643	MCIDAS	ORPHA:244
HP:0000364	Hearing abnormality	56683	CFAP298	ORPHA:244
HP:0000364	Hearing abnormality	79925	SPEF2	ORPHA:244
HP:0000364	Hearing abnormality	10309	CCNO	ORPHA:244
HP:0000364	Hearing abnormality	115399	LRRC56	ORPHA:244
HP:0000364	Hearing abnormality	139212	DNAAF6	ORPHA:244
HP:0000364	Hearing abnormality	123872	DNAAF1	ORPHA:244
HP:0000364	Hearing abnormality	85016	CFAP300	ORPHA:244
HP:0000364	Hearing abnormality	339829	CCDC39	ORPHA:244
HP:0000364	Hearing abnormality	8701	DNAH11	ORPHA:244
HP:0000364	Hearing abnormality	1770	DNAH9	ORPHA:244
HP:0000364	Hearing abnormality	246176	GAS2L2	ORPHA:244
HP:0000364	Hearing abnormality	79628	SH3TC2	OMIM:601596
HP:0000364	Hearing abnormality	29893	PSMC3IP	ORPHA:243
HP:0000364	Hearing abnormality	171568	POLR3H	ORPHA:243
HP:0000364	Hearing abnormality	2516	NR5A1	ORPHA:243
HP:0000364	Hearing abnormality	125150	ZSWIM7	ORPHA:243
HP:0000364	Hearing abnormality	9210	BMP15	ORPHA:243
HP:0000364	Hearing abnormality	57122	NUP107	ORPHA:243
HP:0000364	Hearing abnormality	23514	SPIDR	ORPHA:243
HP:0000364	Hearing abnormality	2492	FSHR	ORPHA:243
HP:0000364	Hearing abnormality	56945	MRPS22	ORPHA:243
HP:0000364	Hearing abnormality	646	BNC1	ORPHA:243
HP:0000364	Hearing abnormality	10262	SF3B4	ORPHA:245
HP:0000364	Hearing abnormality	23676	SMPX	OMIM:301075
HP:0000364	Hearing abnormality	10058	ABCB6	ORPHA:241
HP:0000364	Hearing abnormality	8295	TRRAP	OMIM:618454
HP:0000364	Hearing abnormality	4509	MT-ATP8	ORPHA:480
HP:0000364	Hearing abnormality	4567	MT-TL1	ORPHA:480
HP:0000364	Hearing abnormality	5111	PCNA	ORPHA:438134
HP:0000364	Hearing abnormality	5277	PIGA	OMIM:301072
HP:0000364	Hearing abnormality	5277	PIGA	OMIM:300868
HP:0000364	Hearing abnormality	204	AK2	ORPHA:33355
HP:0000364	Hearing abnormality	54808	DYM	ORPHA:239
HP:0000364	Hearing abnormality	3912	LAMB1	OMIM:615191
HP:0000364	Hearing abnormality	79879	CCDC134	OMIM:619795
HP:0000364	Hearing abnormality	23013	SPEN	OMIM:619312
HP:0000364	Hearing abnormality	127833	SYT2	OMIM:616040
HP:0000364	Hearing abnormality	55628	ZNF407	OMIM:619557
HP:0000364	Hearing abnormality	23345	SYNE1	OMIM:610743
HP:0000364	Hearing abnormality	29887	SNX10	ORPHA:667
HP:0000364	Hearing abnormality	8600	TNFSF11	ORPHA:667
HP:0000364	Hearing abnormality	55869	HDAC8	OMIM:300882
HP:0000364	Hearing abnormality	478	ATP1A3	OMIM:601338
HP:0000364	Hearing abnormality	29078	NDUFAF4	OMIM:618237
HP:0000364	Hearing abnormality	2068	ERCC2	OMIM:610756
HP:0000364	Hearing abnormality	2068	ERCC2	ORPHA:910
HP:0000364	Hearing abnormality	2068	ERCC2	ORPHA:220295
HP:0000364	Hearing abnormality	1908	EDN3	ORPHA:897
HP:0000364	Hearing abnormality	4286	MITF	ORPHA:897
HP:0000364	Hearing abnormality	4286	MITF	ORPHA:42665
HP:0000364	Hearing abnormality	4286	MITF	ORPHA:895
HP:0000364	Hearing abnormality	1910	EDNRB	ORPHA:897
HP:0000364	Hearing abnormality	1910	EDNRB	ORPHA:895
HP:0000364	Hearing abnormality	1910	EDNRB	OMIM:600501
HP:0000364	Hearing abnormality	5077	PAX3	ORPHA:896
HP:0000364	Hearing abnormality	5077	PAX3	ORPHA:894
HP:0000364	Hearing abnormality	9126	SMC3	OMIM:610759
HP:0000364	Hearing abnormality	79944	L2HGDH	OMIM:236792
HP:0000364	Hearing abnormality	4942	OAT	ORPHA:414
HP:0000364	Hearing abnormality	8869	ST3GAL5	OMIM:609056
HP:0000364	Hearing abnormality	79955	PDZD7	OMIM:618003
HP:0000364	Hearing abnormality	51473	DCDC2	OMIM:617394
HP:0000364	Hearing abnormality	1108	CHD4	OMIM:617159
HP:0000364	Hearing abnormality	29920	PYCR2	ORPHA:481152
HP:0000364	Hearing abnormality	29920	PYCR2	OMIM:616420
HP:0000364	Hearing abnormality	2077	ERF	ORPHA:207
HP:0000364	Hearing abnormality	23389	MED13L	ORPHA:369891
HP:0000364	Hearing abnormality	2898	GRIK2	OMIM:619580
HP:0000364	Hearing abnormality	10483	SEC23B	ORPHA:201
HP:0000364	Hearing abnormality	5728	PTEN	ORPHA:201
HP:0000364	Hearing abnormality	5728	PTEN	OMIM:158350
HP:0000364	Hearing abnormality	207	AKT1	ORPHA:201
HP:0000364	Hearing abnormality	207	AKT1	OMIM:615109
HP:0000364	Hearing abnormality	205717	USF3	ORPHA:201
HP:0000364	Hearing abnormality	5290	PIK3CA	ORPHA:201
HP:0000364	Hearing abnormality	5290	PIK3CA	OMIM:615108
HP:0000364	Hearing abnormality	100144748	KLLN	ORPHA:201
HP:0000364	Hearing abnormality	9496	TBX4	ORPHA:261279
HP:0000364	Hearing abnormality	2332	FMR1	OMIM:300623
HP:0000364	Hearing abnormality	26276	VPS33B	OMIM:208085
HP:0000364	Hearing abnormality	1822	ATN1	OMIM:618494
HP:0000364	Hearing abnormality	26040	SETBP1	OMIM:616078
HP:0000364	Hearing abnormality	5144	PDE4D	ORPHA:439822
HP:0000364	Hearing abnormality	5144	PDE4D	ORPHA:950
HP:0000364	Hearing abnormality	5573	PRKAR1A	OMIM:101800
HP:0000364	Hearing abnormality	5573	PRKAR1A	ORPHA:950
HP:0000364	Hearing abnormality	11340	EXOSC8	OMIM:616081
HP:0000364	Hearing abnormality	3975	LHX1	ORPHA:261265
HP:0000364	Hearing abnormality	6928	HNF1B	ORPHA:261265
HP:0000364	Hearing abnormality	6928	HNF1B	ORPHA:93111
HP:0000364	Hearing abnormality	3852	KRT5	OMIM:619599
HP:0000364	Hearing abnormality	4041	LRP5	ORPHA:178377
HP:0000364	Hearing abnormality	4041	LRP5	ORPHA:891
HP:0000364	Hearing abnormality	51604	PIGT	ORPHA:369837
HP:0000364	Hearing abnormality	145173	B3GLCT	OMIM:261540
HP:0000364	Hearing abnormality	5702	PSMC3	OMIM:619354
HP:0000364	Hearing abnormality	440138	ALG11	ORPHA:280071
HP:0000364	Hearing abnormality	29123	ANKRD11	ORPHA:261250
HP:0000364	Hearing abnormality	57704	GBA2	ORPHA:320391
HP:0000364	Hearing abnormality	57704	GBA2	OMIM:614409
HP:0000364	Hearing abnormality	6299	SALL1	ORPHA:857
HP:0000364	Hearing abnormality	51339	DACT1	ORPHA:857
HP:0000364	Hearing abnormality	8911	CACNA1I	OMIM:620114
HP:0000364	Hearing abnormality	7299	TYR	ORPHA:895
HP:0000364	Hearing abnormality	6591	SNAI2	ORPHA:895
HP:0000364	Hearing abnormality	6591	SNAI2	ORPHA:2884
HP:0000364	Hearing abnormality	4254	KITLG	ORPHA:895
HP:0000364	Hearing abnormality	4693	NDP	ORPHA:891
HP:0000364	Hearing abnormality	23554	TSPAN12	ORPHA:891
HP:0000364	Hearing abnormality	79797	ZNF408	ORPHA:891
HP:0000364	Hearing abnormality	8322	FZD4	ORPHA:891
HP:0000364	Hearing abnormality	55898	UNC45A	OMIM:619377
HP:0000364	Hearing abnormality	55005	RMND1	OMIM:614922
HP:0000364	Hearing abnormality	3295	HSD17B4	OMIM:261515
HP:0000364	Hearing abnormality	2581	GALC	ORPHA:206436
HP:0000364	Hearing abnormality	2581	GALC	OMIM:245200
HP:0000364	Hearing abnormality	5660	PSAP	ORPHA:206436
HP:0000364	Hearing abnormality	4508	MT-ATP6	ORPHA:644
HP:0000364	Hearing abnormality	79644	SRD5A3	ORPHA:324737
HP:0000364	Hearing abnormality	6913	TBX15	OMIM:260660
HP:0000364	Hearing abnormality	6913	TBX15	ORPHA:93333
HP:0000364	Hearing abnormality	27161	AGO2	OMIM:619149
HP:0000364	Hearing abnormality	161742	SPRED1	ORPHA:137605
HP:0000364	Hearing abnormality	259232	NALCN	ORPHA:2053
HP:0000364	Hearing abnormality	8506	CNTNAP1	OMIM:618186
HP:0000364	Hearing abnormality	80207	OPA3	OMIM:165300
HP:0000364	Hearing abnormality	8496	PPFIBP1	OMIM:620024
HP:0000364	Hearing abnormality	132158	GLYCTK	ORPHA:941
HP:0000364	Hearing abnormality	374654	KIF7	OMIM:200990
HP:0000364	Hearing abnormality	5689	PSMB1	OMIM:620038
HP:0000364	Hearing abnormality	10134	BCAP31	ORPHA:369939
HP:0000364	Hearing abnormality	26277	TINF2	OMIM:613990
HP:0000364	Hearing abnormality	26277	TINF2	ORPHA:1775
HP:0000364	Hearing abnormality	9739	SETD1A	OMIM:619056
HP:0000364	Hearing abnormality	55037	PTCD3	OMIM:619057
HP:0000364	Hearing abnormality	84823	LMNB2	ORPHA:79087
HP:0000364	Hearing abnormality	7276	TTR	OMIM:105210
HP:0000364	Hearing abnormality	8802	SUCLG1	OMIM:245400
HP:0000364	Hearing abnormality	1717	DHCR7	OMIM:270400
HP:0000364	Hearing abnormality	2720	GLB1	OMIM:253010
HP:0000364	Hearing abnormality	2720	GLB1	ORPHA:79255
HP:0000364	Hearing abnormality	649	BMP1	OMIM:614856
HP:0000364	Hearing abnormality	57465	TBC1D24	OMIM:614617
HP:0000364	Hearing abnormality	57465	TBC1D24	OMIM:220500
HP:0000364	Hearing abnormality	4853	NOTCH2	ORPHA:955
HP:0000364	Hearing abnormality	10558	SPTLC1	ORPHA:36386
HP:0000364	Hearing abnormality	25923	ATL3	ORPHA:36386
HP:0000364	Hearing abnormality	9517	SPTLC2	ORPHA:36386
HP:0000364	Hearing abnormality	51062	ATL1	ORPHA:36386
HP:0000364	Hearing abnormality	2615	LRRC32	OMIM:619074
HP:0000364	Hearing abnormality	443	ASPA	OMIM:271900
HP:0000364	Hearing abnormality	259236	TMIE	OMIM:600971
HP:0000364	Hearing abnormality	8905	AP1S2	ORPHA:85335
HP:0000364	Hearing abnormality	1857	DVL3	ORPHA:3107
HP:0000364	Hearing abnormality	1857	DVL3	OMIM:616894
HP:0000364	Hearing abnormality	7474	WNT5A	ORPHA:3107
HP:0000364	Hearing abnormality	2535	FZD2	ORPHA:3107
HP:0000364	Hearing abnormality	8626	TP63	OMIM:129400
HP:0000364	Hearing abnormality	8626	TP63	OMIM:604292
HP:0000364	Hearing abnormality	9289	ADGRG1	ORPHA:98889
HP:0000364	Hearing abnormality	5297	PI4KA	ORPHA:98889
HP:0000364	Hearing abnormality	27286	SRPX2	ORPHA:98889
HP:0000364	Hearing abnormality	5700	PSMC1	OMIM:620071
HP:0000364	Hearing abnormality	78989	COLEC11	OMIM:265050
HP:0000364	Hearing abnormality	78989	COLEC11	ORPHA:293843
HP:0000364	Hearing abnormality	58508	KMT2C	ORPHA:261652
HP:0000364	Hearing abnormality	2548	GAA	ORPHA:308552
HP:0000364	Hearing abnormality	2548	GAA	OMIM:232300
HP:0000364	Hearing abnormality	3845	KRAS	ORPHA:3339
HP:0000364	Hearing abnormality	84919	PPP1R15B	OMIM:616817
HP:0000364	Hearing abnormality	6231	RPS26	OMIM:613309
HP:0000364	Hearing abnormality	9968	MED12	OMIM:300895
HP:0000364	Hearing abnormality	3329	HSPD1	ORPHA:100994
HP:0000364	Hearing abnormality	80067	DCAF17	OMIM:241080
HP:0000364	Hearing abnormality	3798	KIF5A	ORPHA:100991
HP:0000364	Hearing abnormality	2317	FLNB	OMIM:150250
HP:0000364	Hearing abnormality	25861	WHRN	OMIM:611383
HP:0000364	Hearing abnormality	776	CACNA1D	OMIM:614896
HP:0000364	Hearing abnormality	23590	PDSS1	OMIM:614651
HP:0000364	Hearing abnormality	91147	TMEM67	ORPHA:140976
HP:0000364	Hearing abnormality	51475	CABP2	OMIM:614899
HP:0000364	Hearing abnormality	2719	GPC3	OMIM:312870
HP:0000364	Hearing abnormality	2239	GPC4	OMIM:312870
HP:0000364	Hearing abnormality	27152	INTU	OMIM:617926
HP:0000364	Hearing abnormality	865	CBFB	OMIM:620099
HP:0000364	Hearing abnormality	7507	XPA	ORPHA:910
HP:0000364	Hearing abnormality	2071	ERCC3	ORPHA:910
HP:0000364	Hearing abnormality	2071	ERCC3	ORPHA:220295
HP:0000364	Hearing abnormality	7508	XPC	ORPHA:910
HP:0000364	Hearing abnormality	1643	DDB2	ORPHA:910
HP:0000364	Hearing abnormality	2073	ERCC5	ORPHA:910
HP:0000364	Hearing abnormality	2073	ERCC5	ORPHA:220295
HP:0000364	Hearing abnormality	6938	TCF12	ORPHA:35099
HP:0000364	Hearing abnormality	7545	ZIC1	ORPHA:35099
HP:0000364	Hearing abnormality	92935	MARS2	OMIM:611390
HP:0000364	Hearing abnormality	9780	PIEZO1	OMIM:616843
HP:0000364	Hearing abnormality	29926	GMPPA	OMIM:615510
HP:0000364	Hearing abnormality	411	ARSB	OMIM:253200
HP:0000364	Hearing abnormality	113179	ADAT3	ORPHA:363528
HP:0000364	Hearing abnormality	55784	MCTP2	ORPHA:1596
HP:0000364	Hearing abnormality	6657	SOX2	ORPHA:77298
HP:0000364	Hearing abnormality	9512	PMPCB	OMIM:617954
HP:0000364	Hearing abnormality	686	BTD	ORPHA:79241
HP:0000364	Hearing abnormality	2232	FDXR	OMIM:617717
HP:0000364	Hearing abnormality	2248	FGF3	ORPHA:90024
HP:0000364	Hearing abnormality	7421	VDR	OMIM:277440
HP:0000364	Hearing abnormality	54658	UGT1A1	ORPHA:79234
HP:0000364	Hearing abnormality	4771	NF2	OMIM:101000
HP:0000364	Hearing abnormality	7874	USP7	ORPHA:500055
HP:0000364	Hearing abnormality	2643	GCH1	ORPHA:98808
HP:0000364	Hearing abnormality	4929	NR4A2	ORPHA:98808
HP:0000364	Hearing abnormality	3615	IMPDH2	ORPHA:98808
HP:0000364	Hearing abnormality	2588	GALNS	OMIM:253000
HP:0000364	Hearing abnormality	23233	EXOC6B	ORPHA:93359
HP:0000364	Hearing abnormality	126792	B3GALT6	ORPHA:93359
HP:0000364	Hearing abnormality	51002	TPRKB	OMIM:617731
HP:0000364	Hearing abnormality	8405	SPOP	OMIM:618828
HP:0000364	Hearing abnormality	25915	NDUFAF3	ORPHA:70474
HP:0000364	Hearing abnormality	4714	NDUFB8	ORPHA:70474
HP:0000364	Hearing abnormality	9997	SCO2	ORPHA:70474
HP:0000364	Hearing abnormality	23630	KCNE5	ORPHA:86818
HP:0000364	Hearing abnormality	2182	ACSL4	ORPHA:86818
HP:0000364	Hearing abnormality	9949	AMMECR1	ORPHA:86818
HP:0000364	Hearing abnormality	55278	QRSL1	OMIM:618835
HP:0000364	Hearing abnormality	5188	GATB	OMIM:618838
HP:0000364	Hearing abnormality	283459	GATC	OMIM:618839
HP:0000364	Hearing abnormality	3815	KIT	ORPHA:2884
HP:0000364	Hearing abnormality	8241	RBM10	ORPHA:2886
HP:0000364	Hearing abnormality	25782	RAB3GAP2	ORPHA:401830
HP:0000364	Hearing abnormality	210	ALAD	ORPHA:100924
HP:0000364	Hearing abnormality	374462	PTPRQ	OMIM:613391
HP:0000364	Hearing abnormality	9197	SLC33A1	OMIM:614482
HP:0000364	Hearing abnormality	51780	KDM3B	OMIM:618846
HP:0000364	Hearing abnormality	1663	DDX11	OMIM:613398
HP:0000364	Hearing abnormality	2990	GUSB	OMIM:253220
HP:0000364	Hearing abnormality	4668	NAGA	ORPHA:79280
HP:0000364	Hearing abnormality	4668	NAGA	ORPHA:79279
HP:0000364	Hearing abnormality	5718	PSMD12	OMIM:617516
HP:0000364	Hearing abnormality	23592	LEMD3	ORPHA:1306
HP:0000364	Hearing abnormality	4848	CNOT2	OMIM:618608
HP:0000364	Hearing abnormality	23404	EXOSC2	OMIM:617763
HP:0000364	Hearing abnormality	8803	SUCLA2	OMIM:612073
HP:0000364	Hearing abnormality	2036	EPB41L1	OMIM:614257
HP:0000364	Hearing abnormality	80169	CTC1	ORPHA:1775
HP:0000364	Hearing abnormality	55651	NHP2	ORPHA:1775
HP:0000364	Hearing abnormality	79650	USB1	ORPHA:1775
HP:0000364	Hearing abnormality	55135	WRAP53	ORPHA:1775
HP:0000364	Hearing abnormality	51750	RTEL1	ORPHA:1775
HP:0000364	Hearing abnormality	4869	NPM1	ORPHA:1775
HP:0000364	Hearing abnormality	7012	TERC	ORPHA:1775
HP:0000364	Hearing abnormality	55505	NOP10	ORPHA:1775
HP:0000364	Hearing abnormality	5073	PARN	ORPHA:1775
HP:0000364	Hearing abnormality	7015	TERT	ORPHA:1775
HP:0000364	Hearing abnormality	1736	DKC1	ORPHA:1775
HP:0000364	Hearing abnormality	7298	TYMS	ORPHA:1775
HP:0000364	Hearing abnormality	6736	SRY	ORPHA:1772
HP:0000364	Hearing abnormality	55753	OGDHL	OMIM:619701
HP:0000364	Hearing abnormality	58499	ZNF462	OMIM:618619
HP:0000364	Hearing abnormality	5604	MAP2K1	OMIM:163950
HP:0000364	Hearing abnormality	5781	PTPN11	OMIM:163950
HP:0000364	Hearing abnormality	2737	GLI3	ORPHA:93322
HP:0000364	Hearing abnormality	3479	IGF1	ORPHA:73272
HP:0000364	Hearing abnormality	126326	GIPC3	OMIM:601869
HP:0000364	Hearing abnormality	83715	ESPN	OMIM:618632
HP:0000364	Hearing abnormality	153562	MARVELD2	OMIM:610153
HP:0000364	Hearing abnormality	107	ADCY1	OMIM:610154
HP:0000364	Hearing abnormality	55699	IARS2	ORPHA:436174
HP:0000364	Hearing abnormality	9750	RIPOR2	OMIM:616515
HP:0000364	Hearing abnormality	3082	HGF	OMIM:608265
HP:0000364	Hearing abnormality	10194	TSHZ1	OMIM:607842
HP:0000364	Hearing abnormality	341640	FREM2	ORPHA:2052
HP:0000364	Hearing abnormality	80144	FRAS1	ORPHA:2052
HP:0000364	Hearing abnormality	80144	FRAS1	OMIM:219000
HP:0000364	Hearing abnormality	23426	GRIP1	ORPHA:2052
HP:0000364	Hearing abnormality	6228	RPS23	OMIM:617412
HP:0000364	Hearing abnormality	5447	POR	ORPHA:95699
HP:0000364	Hearing abnormality	5447	POR	OMIM:201750
HP:0000364	Hearing abnormality	4487	MSX1	ORPHA:199302
HP:0000364	Hearing abnormality	4487	MSX1	ORPHA:199306
HP:0000364	Hearing abnormality	5818	NECTIN1	ORPHA:199302
HP:0000364	Hearing abnormality	5818	NECTIN1	ORPHA:199306
HP:0000364	Hearing abnormality	3664	IRF6	ORPHA:199302
HP:0000364	Hearing abnormality	3664	IRF6	ORPHA:199306
HP:0000364	Hearing abnormality	1739	DLG1	ORPHA:199306
HP:0000364	Hearing abnormality	999	CDH1	ORPHA:199306
HP:0000364	Hearing abnormality	999	CDH1	ORPHA:1997
HP:0000364	Hearing abnormality	5156	PDGFRA	ORPHA:199306
HP:0000364	Hearing abnormality	9411	ARHGAP29	ORPHA:199306
HP:0000364	Hearing abnormality	1748	DLX4	ORPHA:199306
HP:0000364	Hearing abnormality	1723	DHODH	OMIM:263750
HP:0000364	Hearing abnormality	1723	DHODH	ORPHA:246
HP:0000364	Hearing abnormality	2314	FLII	ORPHA:819
HP:0000364	Hearing abnormality	23096	IQSEC2	ORPHA:819
HP:0000364	Hearing abnormality	10522	DEAF1	ORPHA:819
HP:0000364	Hearing abnormality	10847	SRCAP	ORPHA:2044
HP:0000364	Hearing abnormality	10847	SRCAP	OMIM:136140
HP:0000364	Hearing abnormality	9382	COG1	OMIM:611209
HP:0000364	Hearing abnormality	1500	CTNND1	ORPHA:1997
HP:0000364	Hearing abnormality	2590	GALNT2	OMIM:618885
HP:0000364	Hearing abnormality	83879	CDCA7	OMIM:616910
HP:0000364	Hearing abnormality	2254	FGF9	ORPHA:3237
HP:0000364	Hearing abnormality	3590	IL11RA	OMIM:614188
HP:0000364	Hearing abnormality	9508	ADAMTS3	ORPHA:2136
HP:0000364	Hearing abnormality	145258	GSC	OMIM:602471
HP:0000364	Hearing abnormality	6628	SNRPB	ORPHA:1393
HP:0000364	Hearing abnormality	6628	SNRPB	OMIM:117650
HP:0000364	Hearing abnormality	55343	SLC35C1	ORPHA:99843
HP:0000364	Hearing abnormality	6949	TCOF1	OMIM:154500
HP:0000364	Hearing abnormality	6949	TCOF1	ORPHA:861
HP:0000364	Hearing abnormality	9533	POLR1C	OMIM:248390
HP:0000364	Hearing abnormality	9533	POLR1C	ORPHA:861
HP:0000364	Hearing abnormality	5396	PRRX1	OMIM:202650
HP:0000364	Hearing abnormality	7314	UBB	ORPHA:99772
HP:0000364	Hearing abnormality	57822	GRHL3	ORPHA:99772
HP:0000364	Hearing abnormality	2623	GATA1	OMIM:190685
HP:0000364	Hearing abnormality	7703	PCGF2	OMIM:618371
HP:0000364	Hearing abnormality	774	CACNA1B	OMIM:618497
HP:0000364	Hearing abnormality	139285	AMER1	ORPHA:2780
HP:0000364	Hearing abnormality	139285	AMER1	OMIM:300373
HP:0000364	Hearing abnormality	9343	EFTUD2	OMIM:610536
HP:0000364	Hearing abnormality	9343	EFTUD2	ORPHA:79113
HP:0000364	Hearing abnormality	84172	POLR1B	OMIM:618939
HP:0000364	Hearing abnormality	84172	POLR1B	ORPHA:861
HP:0000364	Hearing abnormality	760	CA2	ORPHA:2785
HP:0000364	Hearing abnormality	29957	SLC25A24	ORPHA:2095
HP:0000364	Hearing abnormality	29957	SLC25A24	OMIM:612289
HP:0000364	Hearing abnormality	65250	CPLANE1	OMIM:277170
HP:0000364	Hearing abnormality	65250	CPLANE1	ORPHA:2754
HP:0000364	Hearing abnormality	8092	ALX1	ORPHA:306542
HP:0000364	Hearing abnormality	28962	OSTM1	ORPHA:85179
HP:0000364	Hearing abnormality	246329	STAC3	ORPHA:168572
HP:0000364	Hearing abnormality	246329	STAC3	OMIM:255995
HP:0000364	Hearing abnormality	2131	EXT1	ORPHA:502
HP:0000364	Hearing abnormality	7227	TRPS1	ORPHA:502
HP:0000364	Hearing abnormality	51082	POLR1D	ORPHA:861
HP:0000364	Hearing abnormality	51082	POLR1D	OMIM:613717
HP:0000364	Hearing abnormality	1984	EIF5A	OMIM:619376
HP:0000364	Hearing abnormality	650	BMP2	OMIM:617877
HP:0000364	Hearing abnormality	4750	NEK1	ORPHA:2751
HP:0000364	Hearing abnormality	26123	TCTN3	ORPHA:2753
HP:0000364	Hearing abnormality	26123	TCTN3	ORPHA:2754
HP:0000364	Hearing abnormality	9851	KIAA0753	ORPHA:2754
HP:0000364	Hearing abnormality	5147	PDE6D	ORPHA:2754
HP:0000364	Hearing abnormality	51259	TMEM216	ORPHA:2754
HP:0000364	Hearing abnormality	90121	TSR2	OMIM:300946
HP:0000364	Hearing abnormality	4921	DDR2	OMIM:618175
HP:0000364	Hearing abnormality	2549	GAB1	OMIM:605428
HP:0000364	Hearing abnormality	9015	TAF1A	ORPHA:154
HP:0000364	Hearing abnormality	5663	PSEN1	ORPHA:154
HP:0000364	Hearing abnormality	7112	TMPO	ORPHA:154
HP:0000364	Hearing abnormality	9464	HAND2	ORPHA:154
HP:0000364	Hearing abnormality	4625	MYH7	ORPHA:154
HP:0000364	Hearing abnormality	88	ACTN2	ORPHA:154
HP:0000364	Hearing abnormality	10486	CAP2	ORPHA:154
HP:0000364	Hearing abnormality	10060	ABCC9	ORPHA:154
HP:0000364	Hearing abnormality	7168	TPM1	ORPHA:154
HP:0000364	Hearing abnormality	7414	VCL	ORPHA:154
HP:0000364	Hearing abnormality	1832	DSP	ORPHA:154
HP:0000364	Hearing abnormality	70	ACTC1	ORPHA:154
HP:0000364	Hearing abnormality	27063	ANKRD1	ORPHA:154
HP:0000364	Hearing abnormality	8048	CSRP3	ORPHA:154
HP:0000364	Hearing abnormality	1410	CRYAB	ORPHA:154
HP:0000364	Hearing abnormality	7139	TNNT2	ORPHA:154
HP:0000364	Hearing abnormality	1829	DSG2	ORPHA:154
HP:0000364	Hearing abnormality	3910	LAMA4	ORPHA:154
HP:0000364	Hearing abnormality	63976	PRDM16	ORPHA:154
HP:0000364	Hearing abnormality	63976	PRDM16	ORPHA:1606
HP:0000364	Hearing abnormality	7273	TTN	ORPHA:154
HP:0000364	Hearing abnormality	10587	TXNRD2	ORPHA:154
HP:0000364	Hearing abnormality	9531	BAG3	ORPHA:154
HP:0000364	Hearing abnormality	5350	PLN	ORPHA:154
HP:0000364	Hearing abnormality	91624	NEXN	ORPHA:154
HP:0000364	Hearing abnormality	79717	PPCS	ORPHA:154
HP:0000364	Hearing abnormality	5664	PSEN2	ORPHA:154
HP:0000364	Hearing abnormality	4624	MYH6	ORPHA:154
HP:0000364	Hearing abnormality	9529	BAG5	ORPHA:154
HP:0000364	Hearing abnormality	4607	MYBPC3	ORPHA:154
HP:0000364	Hearing abnormality	282996	RBM20	ORPHA:154
HP:0000364	Hearing abnormality	7137	TNNI3	ORPHA:154
HP:0000364	Hearing abnormality	11155	LDB3	ORPHA:154
HP:0000364	Hearing abnormality	2274	FHL2	ORPHA:154
HP:0000364	Hearing abnormality	6901	TAFAZZIN	ORPHA:154
HP:0000364	Hearing abnormality	22845	DOLK	ORPHA:154
HP:0000364	Hearing abnormality	5894	RAF1	ORPHA:154
HP:0000364	Hearing abnormality	5894	RAF1	ORPHA:500
HP:0000364	Hearing abnormality	5894	RAF1	ORPHA:648
HP:0000364	Hearing abnormality	1756	DMD	ORPHA:154
HP:0000364	Hearing abnormality	57798	GATAD1	ORPHA:154
HP:0000364	Hearing abnormality	7134	TNNC1	ORPHA:154
HP:0000364	Hearing abnormality	84665	MYPN	ORPHA:154
HP:0000364	Hearing abnormality	1674	DES	ORPHA:154
HP:0000364	Hearing abnormality	6444	SGCD	ORPHA:154
HP:0000364	Hearing abnormality	2218	FKTN	ORPHA:154
HP:0000364	Hearing abnormality	8557	TCAP	ORPHA:154
HP:0000364	Hearing abnormality	51399	TRAPPC4	OMIM:618741
HP:0000364	Hearing abnormality	23019	CNOT1	OMIM:618500
HP:0000364	Hearing abnormality	1024	CDK8	OMIM:618748
HP:0000364	Hearing abnormality	5238	PGM3	ORPHA:443811
HP:0000364	Hearing abnormality	5238	PGM3	OMIM:615816
HP:0000364	Hearing abnormality	5165	PDK3	OMIM:300905
HP:0000364	Hearing abnormality	5165	PDK3	ORPHA:352675
HP:0000364	Hearing abnormality	51099	ABHD5	OMIM:275630
HP:0000364	Hearing abnormality	51099	ABHD5	ORPHA:98907
HP:0000364	Hearing abnormality	2668	GDNF	ORPHA:388
HP:0000364	Hearing abnormality	1889	ECE1	ORPHA:388
HP:0000364	Hearing abnormality	223117	SEMA3D	ORPHA:388
HP:0000364	Hearing abnormality	538	ATP7A	ORPHA:388
HP:0000364	Hearing abnormality	10512	SEMA3C	ORPHA:388
HP:0000364	Hearing abnormality	2064	ERBB2	ORPHA:388
HP:0000364	Hearing abnormality	2064	ERBB2	OMIM:619465
HP:0000364	Hearing abnormality	4902	NRTN	ORPHA:388
HP:0000364	Hearing abnormality	197131	UBR1	OMIM:243800
HP:0000364	Hearing abnormality	197131	UBR1	ORPHA:2315
HP:0000364	Hearing abnormality	23498	HAAO	OMIM:617660
HP:0000364	Hearing abnormality	83959	SLC4A11	ORPHA:293603
HP:0000364	Hearing abnormality	83959	SLC4A11	ORPHA:1490
HP:0000364	Hearing abnormality	83959	SLC4A11	OMIM:217400
HP:0000364	Hearing abnormality	9578	CDC42BPB	OMIM:619841
HP:0000364	Hearing abnormality	396	ARHGDIA	OMIM:615244
HP:0000364	Hearing abnormality	1841	DTYMK	OMIM:619847
HP:0000364	Hearing abnormality	166378	AFG2A	OMIM:616577
HP:0000364	Hearing abnormality	84197	POMK	OMIM:615249
HP:0000364	Hearing abnormality	81846	SBF2	OMIM:604563
HP:0000364	Hearing abnormality	81846	SBF2	ORPHA:99956
HP:0000364	Hearing abnormality	3190	HNRNPK	OMIM:616580
HP:0000364	Hearing abnormality	3190	HNRNPK	ORPHA:453504
HP:0000364	Hearing abnormality	3190	HNRNPK	ORPHA:352665
HP:0000364	Hearing abnormality	317662	FAM149B1	OMIM:618763
HP:0000364	Hearing abnormality	64834	ELOVL1	OMIM:618527
HP:0000364	Hearing abnormality	79029	AFG2B	OMIM:619615
HP:0000364	Hearing abnormality	85465	SELENOI	OMIM:618768
HP:0000364	Hearing abnormality	5191	PEX7	OMIM:215100
HP:0000364	Hearing abnormality	5191	PEX7	ORPHA:773
HP:0000364	Hearing abnormality	5191	PEX7	OMIM:614879
HP:0000364	Hearing abnormality	5191	PEX7	OMIM:266500
HP:0000364	Hearing abnormality	4571	MT-TP	OMIM:545000
HP:0000364	Hearing abnormality	4571	MT-TP	ORPHA:551
HP:0000364	Hearing abnormality	4565	MT-TI	OMIM:545000
HP:0000364	Hearing abnormality	23327	NEDD4L	OMIM:617201
HP:0000364	Hearing abnormality	1428	CRYM	OMIM:616357
HP:0000364	Hearing abnormality	28514	DLL1	ORPHA:93926
HP:0000364	Hearing abnormality	28514	DLL1	ORPHA:93924
HP:0000364	Hearing abnormality	28514	DLL1	ORPHA:93925
HP:0000364	Hearing abnormality	28514	DLL1	ORPHA:220386
HP:0000364	Hearing abnormality	2253	FGF8	ORPHA:93926
HP:0000364	Hearing abnormality	2253	FGF8	ORPHA:93924
HP:0000364	Hearing abnormality	2253	FGF8	ORPHA:93925
HP:0000364	Hearing abnormality	2253	FGF8	ORPHA:220386
HP:0000364	Hearing abnormality	2253	FGF8	ORPHA:478
HP:0000364	Hearing abnormality	2253	FGF8	OMIM:612702
HP:0000364	Hearing abnormality	6496	SIX3	ORPHA:93926
HP:0000364	Hearing abnormality	6496	SIX3	ORPHA:93924
HP:0000364	Hearing abnormality	6496	SIX3	ORPHA:93925
HP:0000364	Hearing abnormality	6496	SIX3	ORPHA:220386
HP:0000364	Hearing abnormality	7050	TGIF1	ORPHA:93926
HP:0000364	Hearing abnormality	7050	TGIF1	ORPHA:93924
HP:0000364	Hearing abnormality	7050	TGIF1	ORPHA:93925
HP:0000364	Hearing abnormality	7050	TGIF1	ORPHA:220386
HP:0000364	Hearing abnormality	4838	NODAL	ORPHA:93926
HP:0000364	Hearing abnormality	4838	NODAL	ORPHA:93924
HP:0000364	Hearing abnormality	4838	NODAL	ORPHA:93925
HP:0000364	Hearing abnormality	4838	NODAL	ORPHA:220386
HP:0000364	Hearing abnormality	6469	SHH	ORPHA:93926
HP:0000364	Hearing abnormality	6469	SHH	ORPHA:93924
HP:0000364	Hearing abnormality	6469	SHH	ORPHA:93925
HP:0000364	Hearing abnormality	6469	SHH	ORPHA:220386
HP:0000364	Hearing abnormality	7546	ZIC2	ORPHA:93926
HP:0000364	Hearing abnormality	7546	ZIC2	ORPHA:93924
HP:0000364	Hearing abnormality	7546	ZIC2	ORPHA:93925
HP:0000364	Hearing abnormality	7546	ZIC2	ORPHA:220386
HP:0000364	Hearing abnormality	6491	STIL	ORPHA:93926
HP:0000364	Hearing abnormality	6491	STIL	ORPHA:93924
HP:0000364	Hearing abnormality	6491	STIL	ORPHA:93925
HP:0000364	Hearing abnormality	6491	STIL	ORPHA:220386
HP:0000364	Hearing abnormality	2619	GAS1	ORPHA:93926
HP:0000364	Hearing abnormality	2619	GAS1	ORPHA:93924
HP:0000364	Hearing abnormality	2619	GAS1	ORPHA:93925
HP:0000364	Hearing abnormality	2619	GAS1	ORPHA:220386
HP:0000364	Hearing abnormality	84976	DISP1	ORPHA:93926
HP:0000364	Hearing abnormality	84976	DISP1	ORPHA:93924
HP:0000364	Hearing abnormality	84976	DISP1	ORPHA:93925
HP:0000364	Hearing abnormality	84976	DISP1	ORPHA:220386
HP:0000364	Hearing abnormality	2736	GLI2	ORPHA:93926
HP:0000364	Hearing abnormality	2736	GLI2	ORPHA:93924
HP:0000364	Hearing abnormality	2736	GLI2	ORPHA:93925
HP:0000364	Hearing abnormality	2736	GLI2	ORPHA:220386
HP:0000364	Hearing abnormality	8928	FOXH1	ORPHA:93926
HP:0000364	Hearing abnormality	8928	FOXH1	ORPHA:93924
HP:0000364	Hearing abnormality	8928	FOXH1	ORPHA:93925
HP:0000364	Hearing abnormality	8928	FOXH1	ORPHA:220386
HP:0000364	Hearing abnormality	5727	PTCH1	ORPHA:93926
HP:0000364	Hearing abnormality	5727	PTCH1	ORPHA:93924
HP:0000364	Hearing abnormality	5727	PTCH1	ORPHA:93925
HP:0000364	Hearing abnormality	5727	PTCH1	ORPHA:220386
HP:0000364	Hearing abnormality	50937	CDON	ORPHA:93926
HP:0000364	Hearing abnormality	50937	CDON	ORPHA:93924
HP:0000364	Hearing abnormality	50937	CDON	ORPHA:93925
HP:0000364	Hearing abnormality	50937	CDON	ORPHA:220386
HP:0000364	Hearing abnormality	23007	PLCH1	ORPHA:93925
HP:0000364	Hearing abnormality	4247	MGAT2	OMIM:212066
HP:0000364	Hearing abnormality	5357	PLS1	OMIM:618787
HP:0000364	Hearing abnormality	5590	PRKCZ	ORPHA:1606
HP:0000364	Hearing abnormality	2563	GABRD	ORPHA:1606
HP:0000364	Hearing abnormality	8510	MMP23B	ORPHA:1606
HP:0000364	Hearing abnormality	7798	LUZP1	ORPHA:1606
HP:0000364	Hearing abnormality	6497	SKI	ORPHA:1606
HP:0000364	Hearing abnormality	10630	PDPN	ORPHA:1606
HP:0000364	Hearing abnormality	3339	HSPG2	ORPHA:1606
HP:0000364	Hearing abnormality	10277	UBE4B	ORPHA:1606
HP:0000364	Hearing abnormality	8514	KCNAB2	ORPHA:1606
HP:0000364	Hearing abnormality	54897	CASZ1	ORPHA:1606
HP:0000364	Hearing abnormality	3766	KCNJ10	ORPHA:199343
HP:0000364	Hearing abnormality	3766	KCNJ10	OMIM:600791
HP:0000364	Hearing abnormality	3766	KCNJ10	OMIM:612780
HP:0000364	Hearing abnormality	3766	KCNJ10	ORPHA:705
HP:0000364	Hearing abnormality	124590	USH1G	OMIM:606943
HP:0000364	Hearing abnormality	124590	USH1G	ORPHA:231169
HP:0000364	Hearing abnormality	3773	KCNJ16	OMIM:619406
HP:0000364	Hearing abnormality	1758	DMP1	ORPHA:289176
HP:0000364	Hearing abnormality	1758	DMP1	OMIM:241520
HP:0000364	Hearing abnormality	125988	MICOS13	OMIM:618329
HP:0000364	Hearing abnormality	84131	CEP78	OMIM:617236
HP:0000364	Hearing abnormality	84131	CEP78	ORPHA:231183
HP:0000364	Hearing abnormality	25836	NIPBL	OMIM:122470
HP:0000364	Hearing abnormality	25836	NIPBL	ORPHA:199
HP:0000364	Hearing abnormality	25970	SH2B1	ORPHA:261197
HP:0000364	Hearing abnormality	55151	TMEM38B	OMIM:615066
HP:0000364	Hearing abnormality	27429	HTRA2	OMIM:617248
HP:0000364	Hearing abnormality	4001	LMNB1	ORPHA:99027
HP:0000364	Hearing abnormality	389827	MYMK	OMIM:254940
HP:0000364	Hearing abnormality	64132	XYLT2	OMIM:605822
HP:0000364	Hearing abnormality	4549	MT-RNR1	ORPHA:551
HP:0000364	Hearing abnormality	4564	MT-TH	ORPHA:551
HP:0000364	Hearing abnormality	4564	MT-TH	ORPHA:550
HP:0000364	Hearing abnormality	9361	LONP1	OMIM:600373
HP:0000364	Hearing abnormality	9361	LONP1	ORPHA:1458
HP:0000364	Hearing abnormality	4538	MT-ND4	ORPHA:550
HP:0000364	Hearing abnormality	4538	MT-ND4	ORPHA:255210
HP:0000364	Hearing abnormality	92840	REEP6	ORPHA:791
HP:0000364	Hearing abnormality	6094	ROM1	ORPHA:791
HP:0000364	Hearing abnormality	6017	RLBP1	ORPHA:791
HP:0000364	Hearing abnormality	7401	CLRN1	ORPHA:791
HP:0000364	Hearing abnormality	7401	CLRN1	OMIM:276902
HP:0000364	Hearing abnormality	7401	CLRN1	ORPHA:231183
HP:0000364	Hearing abnormality	24	ABCA4	ORPHA:791
HP:0000364	Hearing abnormality	130557	ZNF513	ORPHA:791
HP:0000364	Hearing abnormality	92211	CDHR1	ORPHA:791
HP:0000364	Hearing abnormality	23568	ARL2BP	ORPHA:791
HP:0000364	Hearing abnormality	54806	AHI1	ORPHA:791
HP:0000364	Hearing abnormality	6101	RP1	ORPHA:791
HP:0000364	Hearing abnormality	3419	IDH3A	ORPHA:791
HP:0000364	Hearing abnormality	4751	NEK2	ORPHA:791
HP:0000364	Hearing abnormality	346007	EYS	ORPHA:791
HP:0000364	Hearing abnormality	8100	IFT88	ORPHA:791
HP:0000364	Hearing abnormality	23020	SNRNP200	ORPHA:791
HP:0000364	Hearing abnormality	762	CA4	ORPHA:791
HP:0000364	Hearing abnormality	196	AHR	ORPHA:791
HP:0000364	Hearing abnormality	5148	PDE6G	ORPHA:791
HP:0000364	Hearing abnormality	26121	PRPF31	ORPHA:791
HP:0000364	Hearing abnormality	4117	MAK	ORPHA:791
HP:0000364	Hearing abnormality	25794	FSCN2	ORPHA:791
HP:0000364	Hearing abnormality	375298	CERKL	ORPHA:791
HP:0000364	Hearing abnormality	3420	IDH3B	ORPHA:791
HP:0000364	Hearing abnormality	57670	KIAA1549	ORPHA:791
HP:0000364	Hearing abnormality	7275	TUB	ORPHA:791
HP:0000364	Hearing abnormality	24148	PRPF6	ORPHA:791
HP:0000364	Hearing abnormality	10461	MERTK	ORPHA:791
HP:0000364	Hearing abnormality	57709	SLC7A14	ORPHA:791
HP:0000364	Hearing abnormality	768206	PRCD	ORPHA:791
HP:0000364	Hearing abnormality	7399	USH2A	ORPHA:791
HP:0000364	Hearing abnormality	7399	USH2A	ORPHA:231178
HP:0000364	Hearing abnormality	23370	ARHGEF18	ORPHA:791
HP:0000364	Hearing abnormality	5949	RBP3	ORPHA:791
HP:0000364	Hearing abnormality	6010	RHO	ORPHA:791
HP:0000364	Hearing abnormality	6100	RP9	ORPHA:791
HP:0000364	Hearing abnormality	10002	NR2E3	ORPHA:791
HP:0000364	Hearing abnormality	84140	FAM161A	ORPHA:791
HP:0000364	Hearing abnormality	55624	POMGNT1	ORPHA:791
HP:0000364	Hearing abnormality	403	ARL3	ORPHA:791
HP:0000364	Hearing abnormality	5145	PDE6A	ORPHA:791
HP:0000364	Hearing abnormality	10210	TOPORS	ORPHA:791
HP:0000364	Hearing abnormality	8842	PROM1	ORPHA:791
HP:0000364	Hearing abnormality	9128	PRPF4	ORPHA:791
HP:0000364	Hearing abnormality	50939	IMPG2	ORPHA:791
HP:0000364	Hearing abnormality	2979	GUCA1B	ORPHA:791
HP:0000364	Hearing abnormality	1259	CNGA1	ORPHA:791
HP:0000364	Hearing abnormality	1258	CNGB1	ORPHA:791
HP:0000364	Hearing abnormality	60509	AGBL5	ORPHA:791
HP:0000364	Hearing abnormality	5961	PRPH2	ORPHA:791
HP:0000364	Hearing abnormality	388939	PCARE	ORPHA:791
HP:0000364	Hearing abnormality	7439	BEST1	ORPHA:791
HP:0000364	Hearing abnormality	9785	DHX38	ORPHA:791
HP:0000364	Hearing abnormality	5995	RGR	ORPHA:791
HP:0000364	Hearing abnormality	9129	PRPF3	ORPHA:791
HP:0000364	Hearing abnormality	55975	KLHL7	ORPHA:791
HP:0000364	Hearing abnormality	3617	IMPG1	ORPHA:791
HP:0000364	Hearing abnormality	94137	RP1L1	ORPHA:791
HP:0000364	Hearing abnormality	5158	PDE6B	ORPHA:791
HP:0000364	Hearing abnormality	6102	RP2	ORPHA:791
HP:0000364	Hearing abnormality	55857	KIZ	ORPHA:791
HP:0000364	Hearing abnormality	64218	SEMA4A	ORPHA:791
HP:0000364	Hearing abnormality	4901	NRL	ORPHA:791
HP:0000364	Hearing abnormality	10594	PRPF8	ORPHA:791
HP:0000364	Hearing abnormality	6295	SAG	ORPHA:791
HP:0000364	Hearing abnormality	79947	DHDDS	ORPHA:791
HP:0000364	Hearing abnormality	79947	DHDDS	OMIM:613861
HP:0000364	Hearing abnormality	54517	PUS7	OMIM:618342
HP:0000364	Hearing abnormality	5551	PRF1	ORPHA:540
HP:0000364	Hearing abnormality	8676	STX11	ORPHA:540
HP:0000364	Hearing abnormality	201294	UNC13D	ORPHA:540
HP:0000364	Hearing abnormality	57104	PNPLA2	ORPHA:565612
HP:0000364	Hearing abnormality	57104	PNPLA2	ORPHA:98908
HP:0000364	Hearing abnormality	57104	PNPLA2	OMIM:610717
HP:0000364	Hearing abnormality	55182	RNF220	OMIM:619688
HP:0000364	Hearing abnormality	79158	GNPTAB	ORPHA:576
HP:0000364	Hearing abnormality	7007	TECTA	OMIM:603629
HP:0000364	Hearing abnormality	7007	TECTA	OMIM:601543
HP:0000364	Hearing abnormality	537	ATP6AP1	OMIM:300972
HP:0000364	Hearing abnormality	7922	SLC39A7	OMIM:619693
HP:0000364	Hearing abnormality	3376	IARS1	ORPHA:541423
HP:0000364	Hearing abnormality	3376	IARS1	OMIM:617093
HP:0000364	Hearing abnormality	10083	USH1C	OMIM:276900
HP:0000364	Hearing abnormality	10083	USH1C	OMIM:602092
HP:0000364	Hearing abnormality	10083	USH1C	ORPHA:231169
HP:0000364	Hearing abnormality	11342	RNF13	OMIM:618379
HP:0000364	Hearing abnormality	11342	RNF13	ORPHA:544503
HP:0000364	Hearing abnormality	9294	S1PR2	OMIM:610419
HP:0000364	Hearing abnormality	5137	PDE1C	OMIM:618140
HP:0000364	Hearing abnormality	57187	THOC2	OMIM:300957
HP:0000364	Hearing abnormality	84196	USP48	OMIM:620227
HP:0000364	Hearing abnormality	493856	CISD2	OMIM:604928
HP:0000364	Hearing abnormality	493856	CISD2	ORPHA:3463
HP:0000364	Hearing abnormality	9373	PLAA	ORPHA:521426
HP:0000364	Hearing abnormality	100127206	MINAR2	OMIM:620238
HP:0000364	Hearing abnormality	91662	NLRP12	OMIM:611762
HP:0000364	Hearing abnormality	55717	WDR11	OMIM:620237
HP:0000364	Hearing abnormality	55717	WDR11	ORPHA:478
HP:0000364	Hearing abnormality	93587	TRMT10A	ORPHA:391408
HP:0000364	Hearing abnormality	7169	TPM2	OMIM:108120
HP:0000364	Hearing abnormality	2299	FOXI1	OMIM:600791
HP:0000364	Hearing abnormality	2299	FOXI1	ORPHA:705
HP:0000364	Hearing abnormality	5172	SLC26A4	OMIM:600791
HP:0000364	Hearing abnormality	5172	SLC26A4	ORPHA:705
HP:0000364	Hearing abnormality	5264	PHYH	ORPHA:773
HP:0000364	Hearing abnormality	5264	PHYH	OMIM:266500
HP:0000364	Hearing abnormality	5295	PIK3R1	ORPHA:3163
HP:0000364	Hearing abnormality	5295	PIK3R1	OMIM:269880
HP:0000364	Hearing abnormality	2629	GBA1	ORPHA:2072
HP:0000364	Hearing abnormality	54936	ADPRS	OMIM:618170
HP:0000364	Hearing abnormality	4860	PNP	ORPHA:760
HP:0000364	Hearing abnormality	375056	MIA3	OMIM:619269
HP:0000364	Hearing abnormality	8022	LHX3	ORPHA:231720
HP:0000364	Hearing abnormality	8022	LHX3	ORPHA:226307
HP:0000364	Hearing abnormality	8022	LHX3	OMIM:221750
HP:0000364	Hearing abnormality	6658	SOX3	ORPHA:3157
HP:0000364	Hearing abnormality	9915	ARNT2	ORPHA:3157
HP:0000364	Hearing abnormality	8820	HESX1	ORPHA:3157
HP:0000364	Hearing abnormality	8820	HESX1	ORPHA:226307
HP:0000364	Hearing abnormality	8820	HESX1	ORPHA:478
HP:0000364	Hearing abnormality	5015	OTX2	ORPHA:3157
HP:0000364	Hearing abnormality	7355	SLC35A2	ORPHA:356961
HP:0000364	Hearing abnormality	283310	OTOGL	OMIM:614944
HP:0000364	Hearing abnormality	340990	OTOG	OMIM:614945
HP:0000364	Hearing abnormality	79581	SLC52A2	OMIM:614707
HP:0000364	Hearing abnormality	8200	GDF5	ORPHA:3250
HP:0000364	Hearing abnormality	146183	OTOA	OMIM:607039
HP:0000364	Hearing abnormality	613	BCR	ORPHA:261330
HP:0000364	Hearing abnormality	1399	CRKL	ORPHA:261330
HP:0000364	Hearing abnormality	5594	MAPK1	ORPHA:261330
HP:0000364	Hearing abnormality	63916	ELMO2	ORPHA:3019
HP:0000364	Hearing abnormality	375611	SLC26A5	OMIM:613865
HP:0000364	Hearing abnormality	429	ASCL1	ORPHA:99803
HP:0000364	Hearing abnormality	8929	PHOX2B	ORPHA:99803
HP:0000364	Hearing abnormality	525	ATP6V1B1	OMIM:267300
HP:0000364	Hearing abnormality	645104	CLRN2	OMIM:619174
HP:0000364	Hearing abnormality	2483	FRG1	OMIM:158900
HP:0000364	Hearing abnormality	2483	FRG1	ORPHA:269
HP:0000364	Hearing abnormality	29967	LRP12	OMIM:164310
HP:0000364	Hearing abnormality	546	ATRX	ORPHA:847
HP:0000364	Hearing abnormality	546	ATRX	OMIM:309580
HP:0000364	Hearing abnormality	546	ATRX	OMIM:301040
HP:0000364	Hearing abnormality	54675	CRLS1	OMIM:620167
HP:0000364	Hearing abnormality	57531	HACE1	ORPHA:464282
HP:0000364	Hearing abnormality	57531	HACE1	OMIM:616756
HP:0000364	Hearing abnormality	9839	ZEB2	ORPHA:261552
HP:0000364	Hearing abnormality	9839	ZEB2	ORPHA:261537
HP:0000364	Hearing abnormality	7156	TOP3A	OMIM:618098
HP:0000364	Hearing abnormality	6999	TDO2	OMIM:600627
HP:0000364	Hearing abnormality	1954	MEGF8	OMIM:614976
HP:0000364	Hearing abnormality	1729	DIAPH1	OMIM:124900
HP:0000364	Hearing abnormality	84300	UQCC2	OMIM:615824
HP:0000364	Hearing abnormality	3782	KCNN3	ORPHA:3473
HP:0000364	Hearing abnormality	53834	FGFRL1	OMIM:194190
HP:0000364	Hearing abnormality	84947	SERAC1	OMIM:614739
HP:0000364	Hearing abnormality	54496	PRMT7	ORPHA:464288
HP:0000364	Hearing abnormality	9653	HS2ST1	OMIM:619194
HP:0000364	Hearing abnormality	5626	PROP1	ORPHA:226307
HP:0000364	Hearing abnormality	89884	LHX4	ORPHA:226307
HP:0000364	Hearing abnormality	5449	POU1F1	ORPHA:226307
HP:0000364	Hearing abnormality	10908	PNPLA6	ORPHA:2377
HP:0000364	Hearing abnormality	3211	HOXB1	OMIM:614744
HP:0000364	Hearing abnormality	2122	MECOM	ORPHA:71289
HP:0000364	Hearing abnormality	2122	MECOM	OMIM:616738
HP:0000364	Hearing abnormality	3207	HOXA11	ORPHA:71289
HP:0000364	Hearing abnormality	3207	HOXA11	OMIM:605432
HP:0000364	Hearing abnormality	2624	GATA2	ORPHA:3226
HP:0000364	Hearing abnormality	90665	TBL1Y	OMIM:400047
HP:0000364	Hearing abnormality	2103	ESRRB	OMIM:608565
HP:0000364	Hearing abnormality	427	ASAH1	ORPHA:2590
HP:0000364	Hearing abnormality	286676	ILDR1	OMIM:609646
HP:0000364	Hearing abnormality	9455	HOMER2	OMIM:616707
HP:0000364	Hearing abnormality	4233	MET	OMIM:616705
HP:0000364	Hearing abnormality	4556	MT-TE	ORPHA:2596
HP:0000364	Hearing abnormality	4556	MT-TE	ORPHA:225
HP:0000364	Hearing abnormality	147372	CCBE1	OMIM:235510
HP:0000364	Hearing abnormality	84188	FAR1	ORPHA:447753
HP:0000364	Hearing abnormality	5832	ALDH18A1	ORPHA:447753
HP:0000364	Hearing abnormality	355	FAS	ORPHA:3437
HP:0000364	Hearing abnormality	57165	GJC2	OMIM:613206
HP:0000364	Hearing abnormality	57165	GJC2	ORPHA:320401
HP:0000364	Hearing abnormality	57724	EPG5	ORPHA:1493
HP:0000364	Hearing abnormality	57724	EPG5	OMIM:242840
HP:0000364	Hearing abnormality	3371	TNC	OMIM:615629
HP:0000364	Hearing abnormality	1287	COL4A5	ORPHA:1018
HP:0000364	Hearing abnormality	1287	COL4A5	OMIM:301050
HP:0000364	Hearing abnormality	91949	COG7	OMIM:608779
HP:0000364	Hearing abnormality	124997	WDR81	OMIM:610185
HP:0000364	Hearing abnormality	132	ADK	OMIM:614300
HP:0000364	Hearing abnormality	79848	CSPP1	OMIM:615636
HP:0000364	Hearing abnormality	8943	AP3D1	ORPHA:1000
HP:0000364	Hearing abnormality	8763	CD164	OMIM:616969
HP:0000364	Hearing abnormality	1776	DNASE1L3	ORPHA:36412
HP:0000364	Hearing abnormality	4010	LMX1B	OMIM:161200
HP:0000364	Hearing abnormality	7317	UBA1	OMIM:301054
HP:0000364	Hearing abnormality	54931	TRMT10C	OMIM:616974
HP:0000364	Hearing abnormality	2782	GNB1	OMIM:616973
HP:0000364	Hearing abnormality	4893	NRAS	OMIM:613224
HP:0000364	Hearing abnormality	4893	NRAS	ORPHA:648
HP:0000364	Hearing abnormality	169792	GLIS3	OMIM:610199
HP:0000364	Hearing abnormality	50	ACO2	OMIM:614559
HP:0000364	Hearing abnormality	27235	COQ2	OMIM:607426
HP:0000364	Hearing abnormality	10560	SLC19A2	OMIM:249270
HP:0000364	Hearing abnormality	10560	SLC19A2	ORPHA:49827
HP:0000364	Hearing abnormality	60	ACTB	ORPHA:79107
HP:0000364	Hearing abnormality	60	ACTB	OMIM:243310
HP:0000364	Hearing abnormality	60	ACTB	OMIM:607371
HP:0000364	Hearing abnormality	8985	PLOD3	OMIM:612394
HP:0000364	Hearing abnormality	4854	NOTCH3	ORPHA:2789
HP:0000364	Hearing abnormality	23312	DMXL2	OMIM:617605
HP:0000364	Hearing abnormality	23312	DMXL2	OMIM:618663
HP:0000364	Hearing abnormality	23476	BRD4	ORPHA:199
HP:0000364	Hearing abnormality	8243	SMC1A	ORPHA:199
HP:0000364	Hearing abnormality	8243	SMC1A	ORPHA:220386
HP:0000364	Hearing abnormality	5885	RAD21	ORPHA:199
HP:0000364	Hearing abnormality	157680	VPS13B	ORPHA:193
HP:0000364	Hearing abnormality	1213	CLTC	OMIM:617854
HP:0000364	Hearing abnormality	51520	LARS1	OMIM:615438
HP:0000364	Hearing abnormality	1890	TYMP	OMIM:603041
HP:0000364	Hearing abnormality	1890	TYMP	ORPHA:298
HP:0000364	Hearing abnormality	60528	ELAC2	OMIM:615440
HP:0000364	Hearing abnormality	28957	MRPS28	OMIM:618958
HP:0000364	Hearing abnormality	60482	SLC5A7	ORPHA:98914
HP:0000364	Hearing abnormality	4649	MYO9A	ORPHA:98914
HP:0000364	Hearing abnormality	1305	COL13A1	ORPHA:98914
HP:0000364	Hearing abnormality	1103	CHAT	ORPHA:98914
HP:0000364	Hearing abnormality	6576	SLC25A1	ORPHA:98914
HP:0000364	Hearing abnormality	6843	VAMP1	ORPHA:98914
HP:0000364	Hearing abnormality	375790	AGRN	ORPHA:98914
HP:0000364	Hearing abnormality	6572	SLC18A3	ORPHA:98914
HP:0000364	Hearing abnormality	6616	SNAP25	ORPHA:98914
HP:0000364	Hearing abnormality	7518	XRCC4	OMIM:616541
HP:0000364	Hearing abnormality	8192	CLPP	OMIM:614129
HP:0000364	Hearing abnormality	5879	RAC1	ORPHA:500159
HP:0000364	Hearing abnormality	5879	RAC1	OMIM:617751
HP:0000364	Hearing abnormality	23250	ATP11A	OMIM:619810
HP:0000364	Hearing abnormality	8777	MPDZ	OMIM:615219
HP:0000364	Hearing abnormality	55553	SOX6	OMIM:618971
HP:0000364	Hearing abnormality	64221	ROBO3	ORPHA:2744
HP:0000364	Hearing abnormality	1630	DCC	ORPHA:2744
HP:0000364	Hearing abnormality	1630	DCC	ORPHA:478
HP:0000364	Hearing abnormality	16	AARS1	OMIM:613287
HP:0000364	Hearing abnormality	1297	COL9A1	OMIM:614134
HP:0000364	Hearing abnormality	1297	COL9A1	ORPHA:250984
HP:0000364	Hearing abnormality	8449	DHX16	OMIM:618733
HP:0000364	Hearing abnormality	9381	OTOF	OMIM:601071
HP:0000364	Hearing abnormality	64699	TMPRSS3	OMIM:601072
HP:0000364	Hearing abnormality	51103	NDUFAF1	ORPHA:2609
HP:0000364	Hearing abnormality	51300	TIMMDC1	ORPHA:2609
HP:0000364	Hearing abnormality	51300	TIMMDC1	OMIM:618251
HP:0000364	Hearing abnormality	4716	NDUFB10	ORPHA:2609
HP:0000364	Hearing abnormality	284184	NDUFAF8	ORPHA:2609
HP:0000364	Hearing abnormality	55863	TMEM126B	ORPHA:2609
HP:0000364	Hearing abnormality	4537	MT-ND3	ORPHA:2609
HP:0000364	Hearing abnormality	4537	MT-ND3	ORPHA:255210
HP:0000364	Hearing abnormality	4726	NDUFS6	ORPHA:2609
HP:0000364	Hearing abnormality	126328	NDUFA11	ORPHA:2609
HP:0000364	Hearing abnormality	4709	NDUFB3	ORPHA:2609
HP:0000364	Hearing abnormality	80224	NUBPL	ORPHA:2609
HP:0000364	Hearing abnormality	4700	NDUFA6	ORPHA:2609
HP:0000364	Hearing abnormality	4536	MT-ND2	ORPHA:2609
HP:0000364	Hearing abnormality	4536	MT-ND2	ORPHA:255210
HP:0000364	Hearing abnormality	4715	NDUFB9	ORPHA:2609
HP:0000364	Hearing abnormality	29925	GMPPB	OMIM:615350
HP:0000364	Hearing abnormality	1947	EFNB1	ORPHA:1520
HP:0000364	Hearing abnormality	22947	DUX4L1	ORPHA:269
HP:0000364	Hearing abnormality	1789	DNMT3B	ORPHA:269
HP:0000364	Hearing abnormality	100288687	DUX4	ORPHA:269
HP:0000364	Hearing abnormality	267010	RNU12	OMIM:603116
HP:0000364	Hearing abnormality	128486	FITM2	OMIM:618635
HP:0000364	Hearing abnormality	3980	LIG3	ORPHA:298
HP:0000364	Hearing abnormality	80153	EDC3	OMIM:616460
HP:0000364	Hearing abnormality	1600	DAB1	ORPHA:363710
HP:0000364	Hearing abnormality	55870	ASH1L	OMIM:617796
HP:0000364	Hearing abnormality	1298	COL9A2	OMIM:614284
HP:0000364	Hearing abnormality	1298	COL9A2	ORPHA:250984
HP:0000364	Hearing abnormality	9692	PRORP	OMIM:619737
HP:0000364	Hearing abnormality	2200	FBN1	ORPHA:2833
HP:0000364	Hearing abnormality	23761	PISD	OMIM:618889
HP:0000364	Hearing abnormality	83480	PUS3	ORPHA:488627
HP:0000364	Hearing abnormality	22884	WDR37	OMIM:618652
HP:0000364	Hearing abnormality	388551	CEACAM16	OMIM:618410
HP:0000364	Hearing abnormality	388551	CEACAM16	OMIM:614614
HP:0000364	Hearing abnormality	5424	POLD1	OMIM:615381
HP:0000364	Hearing abnormality	26284	ERAL1	OMIM:617565
HP:0000364	Hearing abnormality	55012	PPP2R3C	OMIM:618419
HP:0000364	Hearing abnormality	93627	TBCK	ORPHA:488632
HP:0000364	Hearing abnormality	8642	DCHS1	OMIM:601390
HP:0000364	Hearing abnormality	23262	PPIP5K2	OMIM:618422
HP:0000364	Hearing abnormality	1182	CLCN3	OMIM:619512
HP:0000364	Hearing abnormality	85301	COL27A1	OMIM:615155
HP:0000364	Hearing abnormality	8879	SGPL1	OMIM:617575
HP:0000364	Hearing abnormality	9453	GGPS1	OMIM:619518
HP:0000364	Hearing abnormality	59335	PRDM12	OMIM:616488
HP:0000364	Hearing abnormality	9786	KIAA0586	OMIM:616490
HP:0000364	Hearing abnormality	4849	CNOT3	OMIM:618672
HP:0000364	Hearing abnormality	9158	FIBP	OMIM:617107
HP:0000364	Hearing abnormality	9158	FIBP	ORPHA:500095
HP:0000364	Hearing abnormality	7841	MOGS	ORPHA:79330
HP:0000364	Hearing abnormality	7841	MOGS	OMIM:606056
HP:0000364	Hearing abnormality	51651	PTRH2	OMIM:616263
HP:0000364	Hearing abnormality	51651	PTRH2	ORPHA:456312
HP:0000364	Hearing abnormality	85365	ALG2	OMIM:607906
HP:0000364	Hearing abnormality	79977	GRHL2	OMIM:616029
HP:0000364	Hearing abnormality	79977	GRHL2	OMIM:608641
HP:0000364	Hearing abnormality	79087	ALG12	ORPHA:79324
HP:0000364	Hearing abnormality	79087	ALG12	OMIM:607143
HP:0000364	Hearing abnormality	10750	GRAP	OMIM:618456
HP:0000364	Hearing abnormality	124976	SPNS2	OMIM:618457
HP:0000364	Hearing abnormality	10371	SEMA3A	ORPHA:478
HP:0000364	Hearing abnormality	79625	NDNF	ORPHA:478
HP:0000364	Hearing abnormality	389549	FEZF1	ORPHA:478
HP:0000364	Hearing abnormality	3730	ANOS1	ORPHA:478
HP:0000364	Hearing abnormality	285025	CCDC141	ORPHA:478
HP:0000364	Hearing abnormality	60675	PROK2	ORPHA:478
HP:0000364	Hearing abnormality	6870	TACR3	ORPHA:478
HP:0000364	Hearing abnormality	9394	HS6ST1	ORPHA:478
HP:0000364	Hearing abnormality	8822	FGF17	ORPHA:478
HP:0000364	Hearing abnormality	10456	HAX1	OMIM:610738
HP:0000364	Hearing abnormality	53405	CLIC5	OMIM:616042
HP:0000364	Hearing abnormality	54892	NCAPG2	OMIM:618460
HP:0000364	Hearing abnormality	6548	SLC9A1	OMIM:616291
HP:0000364	Hearing abnormality	29998	BICRA	OMIM:619325
HP:0000364	Hearing abnormality	9342	SNAP29	ORPHA:66631
HP:0000364	Hearing abnormality	9342	SNAP29	OMIM:609528
HP:0000364	Hearing abnormality	162514	TRPV3	ORPHA:659
HP:0000364	Hearing abnormality	64065	PERP	ORPHA:659
HP:0000364	Hearing abnormality	977	CD151	OMIM:609057
HP:0000364	Hearing abnormality	79068	FTO	OMIM:612938
HP:0000364	Hearing abnormality	10059	DNM1L	ORPHA:98673
HP:0000364	Hearing abnormality	124842	TMEM132E	OMIM:618481
HP:0000364	Hearing abnormality	57551	TAOK1	OMIM:619575
HP:0000364	Hearing abnormality	55814	BDP1	OMIM:618257
HP:0000364	Hearing abnormality	8635	RNASET2	OMIM:612951
HP:0000364	Hearing abnormality	9791	PTDSS1	OMIM:151050
HP:0000364	Hearing abnormality	51095	TRNT1	OMIM:616084
HP:0000364	Hearing abnormality	4629	MYH11	OMIM:619351
HP:0000364	Hearing abnormality	60684	TRAPPC11	ORPHA:869
HP:0000364	Hearing abnormality	8086	AAAS	ORPHA:869
HP:0000364	Hearing abnormality	3198	HOXA1	OMIM:601536
HP:0000364	Hearing abnormality	51715	RAB23	OMIM:201000
HP:0000364	Hearing abnormality	9759	HDAC4	OMIM:600430
HP:0000364	Hearing abnormality	22800	RRAS2	ORPHA:648
HP:0000364	Hearing abnormality	867	CBL	ORPHA:648
HP:0000364	Hearing abnormality	8216	LZTR1	ORPHA:648
HP:0000364	Hearing abnormality	6016	RIT1	ORPHA:648
HP:0000364	Hearing abnormality	6237	RRAS	ORPHA:648
HP:0000364	Hearing abnormality	200734	SPRED2	ORPHA:648
HP:0000364	Hearing abnormality	6655	SOS2	ORPHA:648
HP:0000364	Hearing abnormality	5922	RASA2	ORPHA:648
HP:0000364	Hearing abnormality	23438	HARS2	OMIM:614926
HP:0000364	Hearing abnormality	84233	TMEM126A	OMIM:612989
HP:0000364	Hearing abnormality	8665	EIF3F	OMIM:618295
HP:0000364	Hearing abnormality	27183	VPS4A	OMIM:619273
HP:0000364	Hearing abnormality	84189	SLITRK6	OMIM:221200
HP:0000364	Hearing abnormality	4570	MT-TN	OMIM:220110
HP:0000364	Hearing abnormality	59341	TRPV4	OMIM:606071
HP:0000364	Hearing abnormality	494513	PJVK	OMIM:610220
HP:0000364	Hearing abnormality	95	ACY1	ORPHA:137754
HP:0000364	Hearing abnormality	95	ACY1	OMIM:609924
HP:0000364	Hearing abnormality	10992	SF3B2	OMIM:164210
HP:0000364	Hearing abnormality	1299	COL9A3	OMIM:620022
HP:0000364	Hearing abnormality	1299	COL9A3	ORPHA:250984
HP:0000364	Hearing abnormality	162	AP1B1	OMIM:242150
HP:0000364	Hearing abnormality	1352	COX10	OMIM:619046
HP:0000364	Hearing abnormality	7080	NKX2-1	ORPHA:209905
HP:0000364	Hearing abnormality	26090	ABHD12	OMIM:612674
HP:0000364	Hearing abnormality	5978	REST	OMIM:612431
HP:0000364	Hearing abnormality	1174	AP1S1	OMIM:609313
HP:0000364	Hearing abnormality	4953	ODC1	OMIM:619075
HP:0000364	Hearing abnormality	4953	ODC1	ORPHA:544488
HP:0000364	Hearing abnormality	5251	PHEX	ORPHA:89936
HP:0000364	Hearing abnormality	7461	CLIP2	ORPHA:904
HP:0000364	Hearing abnormality	84277	DNAJC30	ORPHA:904
HP:0000364	Hearing abnormality	8468	FKBP6	ORPHA:904
HP:0000364	Hearing abnormality	5982	RFC2	ORPHA:904
HP:0000364	Hearing abnormality	2969	GTF2I	ORPHA:904
HP:0000364	Hearing abnormality	3984	LIMK1	ORPHA:904
HP:0000364	Hearing abnormality	9569	GTF2IRD1	ORPHA:904
HP:0000364	Hearing abnormality	155382	VPS37D	ORPHA:904
HP:0000364	Hearing abnormality	155368	METTL27	ORPHA:904
HP:0000364	Hearing abnormality	114049	BUD23	ORPHA:904
HP:0000364	Hearing abnormality	7458	EIF4H	ORPHA:904
HP:0000364	Hearing abnormality	84163	GTF2IRD2	ORPHA:904
HP:0000364	Hearing abnormality	9275	BCL7B	ORPHA:904
HP:0000364	Hearing abnormality	26608	TBL2	ORPHA:904
HP:0000364	Hearing abnormality	653361	NCF1	ORPHA:904
HP:0000364	Hearing abnormality	135886	TMEM270	ORPHA:904
HP:0000364	Hearing abnormality	51085	MLXIPL	ORPHA:904
HP:0000364	Hearing abnormality	51085	MLXIPL	OMIM:194050
HP:0000364	Hearing abnormality	9031	BAZ1B	ORPHA:904
HP:0000364	Hearing abnormality	2006	ELN	ORPHA:904
HP:0000364	Hearing abnormality	2006	ELN	OMIM:194050
HP:0000364	Hearing abnormality	1493	CTLA4	ORPHA:900
HP:0000364	Hearing abnormality	3115	HLA-DPB1	ORPHA:900
HP:0000364	Hearing abnormality	5657	PRTN3	ORPHA:900
HP:0000364	Hearing abnormality	3113	HLA-DPA1	ORPHA:900
HP:0000364	Hearing abnormality	5159	PDGFRB	OMIM:601812
HP:0000364	Hearing abnormality	5591	PRKDC	OMIM:615966
HP:0000364	Hearing abnormality	10430	TMEM147	OMIM:620075
HP:0000364	Hearing abnormality	9080	CLDN9	OMIM:619093
HP:0000364	Hearing abnormality	9939	RBM8A	ORPHA:3320
HP:0000364	Hearing abnormality	92154	MTSS2	OMIM:620086
HP:0000364	Hearing abnormality	51004	COQ6	OMIM:614650
HP:0000364	Hearing abnormality	2702	GJA5	OMIM:612474
HP:0000364	Hearing abnormality	2703	GJA8	OMIM:612474
HP:0000364	Hearing abnormality	170302	ARX	OMIM:300419
HP:0000364	Hearing abnormality	84695	LOXL3	ORPHA:250984
HP:0000364	Hearing abnormality	9420	CYP7B1	ORPHA:100986
HP:0000364	Hearing abnormality	9420	CYP7B1	OMIM:270800
HP:0000364	Hearing abnormality	8556	CDC14A	OMIM:608653
HP:0000364	Hearing abnormality	6731	SRP72	OMIM:614675
HP:0000364	Hearing abnormality	1750	DLX6	ORPHA:2440
HP:0000364	Hearing abnormality	7979	SEM1	ORPHA:2440
HP:0000364	Hearing abnormality	8945	BTRC	ORPHA:2440
HP:0000364	Hearing abnormality	58513	EPS15L1	ORPHA:2440
HP:0000364	Hearing abnormality	6468	FBXW4	ORPHA:2440
HP:0000364	Hearing abnormality	7480	WNT10B	ORPHA:2440
HP:0000364	Hearing abnormality	51116	MRPS2	OMIM:617950
HP:0000364	Hearing abnormality	10265	IRX5	OMIM:611174
HP:0000364	Hearing abnormality	405753	DUOXA2	ORPHA:95716
HP:0000364	Hearing abnormality	6528	SLC5A5	ORPHA:95716
HP:0000364	Hearing abnormality	7038	TG	ORPHA:95716
HP:0000364	Hearing abnormality	7173	TPO	ORPHA:95716
HP:0000364	Hearing abnormality	389434	IYD	ORPHA:95716
HP:0000364	Hearing abnormality	50506	DUOX2	ORPHA:95716
HP:0000364	Hearing abnormality	2058	EPRS1	OMIM:617951
HP:0000364	Hearing abnormality	27315	PGAP2	OMIM:614207
HP:0000364	Hearing abnormality	708	C1QBP	OMIM:617713
HP:0000364	Hearing abnormality	128989	TANGO2	ORPHA:480864
HP:0000364	Hearing abnormality	128989	TANGO2	OMIM:616878
HP:0000364	Hearing abnormality	64423	INF2	OMIM:614455
HP:0000364	Hearing abnormality	2584	GALK1	ORPHA:79237
HP:0000364	Hearing abnormality	84059	ADGRV1	ORPHA:231178
HP:0000364	Hearing abnormality	246213	SLC17A8	OMIM:605583
HP:0000364	Hearing abnormality	182	JAG1	OMIM:617992
HP:0000364	Hearing abnormality	5116	PCNT	ORPHA:2637
HP:0000364	Hearing abnormality	63929	XPNPEP3	OMIM:613159
HP:0000364	Hearing abnormality	57731	SPTBN4	OMIM:617519
HP:0000364	Hearing abnormality	2582	GALE	OMIM:230350
HP:0000364	Hearing abnormality	7840	ALMS1	ORPHA:64
HP:0000364	Hearing abnormality	7840	ALMS1	OMIM:203800
HP:0000364	Hearing abnormality	4694	NDUFA1	OMIM:301020
HP:0000364	Hearing abnormality	1687	GSDME	OMIM:600994
HP:0000364	Hearing abnormality	10205	MPZL2	OMIM:618145
HP:0000364	Hearing abnormality	10463	SLC30A9	OMIM:617595
HP:0000364	Hearing abnormality	22901	ARSG	OMIM:618144
HP:0000364	Hearing abnormality	2625	GATA3	ORPHA:2237
HP:0000364	Hearing abnormality	4171	MCM2	OMIM:616968
HP:0000364	Hearing abnormality	53904	MYO3A	OMIM:607101
HP:0000364	Hearing abnormality	2671	GFER	ORPHA:330054
HP:0000364	Hearing abnormality	79966	SCD5	OMIM:619086
HP:0000364	Hearing abnormality	4646	MYO6	OMIM:606346
HP:0000364	Hearing abnormality	163183	SYNE4	OMIM:615540
HP:0000364	Hearing abnormality	23395	LARS2	OMIM:615300
HP:0000364	Hearing abnormality	286262	TPRN	OMIM:613307
HP:0000364	Hearing abnormality	4976	OPA1	OMIM:125250
HP:0000364	Hearing abnormality	10755	GIPC1	ORPHA:98897
HP:0000364	Hearing abnormality	100996717	NOTCH2NLC	ORPHA:98897
HP:0000364	Hearing abnormality	56172	ANKH	OMIM:123000
HP:0000364	Hearing abnormality	166929	SGMS2	OMIM:126550
HP:0000364	Hearing abnormality	5456	POU3F4	OMIM:304400
HP:0000364	Hearing abnormality	4125	MAN2B1	ORPHA:309282
HP:0000364	Hearing abnormality	4125	MAN2B1	ORPHA:309288
HP:0000364	Hearing abnormality	3199	HOXA2	OMIM:612290
HP:0000364	Hearing abnormality	55755	CDK5RAP2	OMIM:604804
HP:0000364	Hearing abnormality	5075	PAX1	OMIM:615560
HP:0000364	Hearing abnormality	55033	FKBP14	OMIM:614557
HP:0000364	Hearing abnormality	84173	ELMOD3	OMIM:615429
HP:0000364	Hearing abnormality	55294	FBXW7	OMIM:620012
HP:0000364	Hearing abnormality	56975	FAM20C	OMIM:259775
HP:0000364	Hearing abnormality	6234	RPS28	OMIM:606164
HP:0000364	Hearing abnormality	84265	POLR3GL	OMIM:619234
HP:0000364	Hearing abnormality	5269	SERPINB6	OMIM:613453
HP:0000364	Hearing abnormality	9570	GOSR2	OMIM:620166
HP:0000364	Hearing abnormality	11190	CEP250	OMIM:618358
HP:0000364	Hearing abnormality	11133	KPTN	ORPHA:397612
HP:0000364	Hearing abnormality	81624	DIAPH3	OMIM:609129
HP:0000364	Hearing abnormality	4627	MYH9	OMIM:603622
HP:0000364	Hearing abnormality	4009	LMX1A	OMIM:601412
HP:0000364	Hearing abnormality	5442	POLRMT	OMIM:619743
HP:0000364	Hearing abnormality	7407	VARS1	OMIM:617802
HP:0000364	Hearing abnormality	26012	NSMF	ORPHA:432
HP:0000364	Hearing abnormality	2796	GNRH1	ORPHA:432
HP:0000364	Hearing abnormality	2798	GNRHR	ORPHA:432
HP:0000364	Hearing abnormality	84634	KISS1R	ORPHA:432
HP:0000364	Hearing abnormality	6866	TAC3	ORPHA:432
HP:0000364	Hearing abnormality	3814	KISS1	ORPHA:432
HP:0000364	Hearing abnormality	51241	COX16	OMIM:619355
HP:0000364	Hearing abnormality	80000	GREB1L	OMIM:619274
HP:0000364	Hearing abnormality	51081	MRPS7	OMIM:617872
HP:0000364	Hearing abnormality	220074	LRTOMT	OMIM:611451
HP:0000364	Hearing abnormality	4919	ROR1	OMIM:617654
HP:0000364	Hearing abnormality	5959	RDH5	ORPHA:52427
HP:0000364	Hearing abnormality	54845	ESRP1	OMIM:618013
HP:0000364	Hearing abnormality	8942	KYNU	ORPHA:79155
HP:0000364	Hearing abnormality	6813	STXBP2	OMIM:613101
HP:0000364	Hearing abnormality	10269	ZMPSTE24	ORPHA:740
HP:0000364	Hearing abnormality	257	ALX3	ORPHA:391474
HP:0000364	Hearing abnormality	1678	TIMM8A	OMIM:304700
HP:0000364	Hearing abnormality	1678	TIMM8A	ORPHA:52368
HP:0000364	Hearing abnormality	1513	CTSK	ORPHA:763
HP:0000364	Hearing abnormality	2186	BPTF	ORPHA:529962
HP:0000364	Hearing abnormality	1757	SARDH	ORPHA:3129
HP:0000364	Hearing abnormality	10216	PRG4	ORPHA:2848
HP:0000364	Hearing abnormality	54820	NDE1	ORPHA:2177
HP:0000364	Hearing abnormality	1716	DGUOK	ORPHA:329314
HP:0000364	Hearing abnormality	7809	BSND	ORPHA:89938
HP:0000364	Hearing abnormality	1187	CLCNKA	ORPHA:89938
HP:0000364	Hearing abnormality	27316	RBMX	OMIM:300238
HP:0000364	Hearing abnormality	410	ARSA	ORPHA:309256
HP:0000364	Hearing abnormality	410	ARSA	ORPHA:309271
HP:0000364	Hearing abnormality	410	ARSA	ORPHA:309263
HP:0000364	Hearing abnormality	23126	POGZ	OMIM:616364
HP:0000364	Hearing abnormality	222662	LHFPL5	OMIM:610265
HP:0000364	Hearing abnormality	84334	COA8	ORPHA:436271
HP:0000364	Hearing abnormality	2521	FUS	ORPHA:275872
HP:0000364	Hearing abnormality	7415	VCP	ORPHA:275872
HP:0000364	Hearing abnormality	23435	TARDBP	ORPHA:275872
HP:0000364	Hearing abnormality	29110	TBK1	ORPHA:275872
HP:0000364	Hearing abnormality	400916	CHCHD10	ORPHA:275872
HP:0000364	Hearing abnormality	643226	GRXCR2	OMIM:615837
HP:0000364	Hearing abnormality	25914	RTTN	ORPHA:468631
HP:0000364	Hearing abnormality	1288	COL4A6	OMIM:300914
HP:0000364	Hearing abnormality	526	ATP6V1B2	OMIM:124480
HP:0000364	Hearing abnormality	2811	GP1BA	ORPHA:853
HP:0000364	Hearing abnormality	3674	ITGA2B	ORPHA:853
HP:0000364	Hearing abnormality	3673	ITGA2	ORPHA:853
HP:0000364	Hearing abnormality	135228	CD109	ORPHA:853
HP:0000364	Hearing abnormality	3690	ITGB3	ORPHA:853
HP:0000364	Hearing abnormality	4131	MAP1B	OMIM:619808
HP:0000364	Hearing abnormality	51	ACOX1	OMIM:264470
HP:0000364	Hearing abnormality	4512	MT-CO1	OMIM:540000
HP:0000364	Hearing abnormality	4513	MT-CO2	OMIM:540000
HP:0000364	Hearing abnormality	4514	MT-CO3	OMIM:540000
HP:0000364	Hearing abnormality	4519	MT-CYB	OMIM:540000
HP:0000364	Hearing abnormality	4511	MT-TC	OMIM:540000
HP:0000364	Hearing abnormality	4575	MT-TS2	OMIM:540000
HP:0000364	Hearing abnormality	4558	MT-TF	OMIM:540000
HP:0000364	Hearing abnormality	4541	MT-ND6	OMIM:540000
HP:0000364	Hearing abnormality	4540	MT-ND5	OMIM:540000
HP:0000364	Hearing abnormality	4566	MT-TK	OMIM:540000
HP:0000364	Hearing abnormality	4535	MT-ND1	OMIM:540000
HP:0000364	Hearing abnormality	4572	MT-TQ	OMIM:540000
HP:0000364	Hearing abnormality	4577	MT-TV	OMIM:540000
HP:0000364	Hearing abnormality	4578	MT-TW	OMIM:540000
HP:0000364	Hearing abnormality	55739	NAXD	OMIM:618321
HP:0000364	Hearing abnormality	8565	YARS1	OMIM:619418
HP:0000364	Hearing abnormality	10381	TUBB3	ORPHA:300570
HP:0000364	Hearing abnormality	131118	DNAJC19	ORPHA:66634
HP:0000364	Hearing abnormality	2961	GTF2E2	OMIM:616943
HP:0000364	Hearing abnormality	2961	GTF2E2	ORPHA:33364
HP:0000364	Hearing abnormality	833	CARS1	ORPHA:33364
HP:0000364	Hearing abnormality	7737	RNF113A	ORPHA:33364
HP:0000364	Hearing abnormality	136647	MPLKIP	ORPHA:33364
HP:0000364	Hearing abnormality	6897	TARS1	ORPHA:33364
HP:0000364	Hearing abnormality	22856	CHSY1	OMIM:605282
HP:0000364	Hearing abnormality	50617	ATP6V0A4	OMIM:602722
HP:0000364	Hearing abnormality	5611	DNAJC3	ORPHA:445062
HP:0000364	Hearing abnormality	219972	MPEG1	OMIM:619223
HP:0000364	Hearing abnormality	10533	ATG7	OMIM:619422
HP:0000364	Hearing abnormality	22808	MRAS	OMIM:618499
HP:0000364	Hearing abnormality	4647	MYO7A	OMIM:601317
HP:0000364	Hearing abnormality	92949	ADAMTSL1	ORPHA:521445
HP:0000364	Hearing abnormality	117155	CATSPER2	OMIM:611102
HP:0000364	Hearing abnormality	161497	STRC	OMIM:611102
HP:0000364	Hearing abnormality	51776	MAP3K20	ORPHA:488232
HP:0000364	Hearing abnormality	4990	SIX6	OMIM:206900
HP:0000364	Hearing abnormality	29899	GPSM2	OMIM:604213
HP:0000364	Hearing abnormality	11078	TRIOBP	OMIM:609823
HP:0000364	Hearing abnormality	30813	VSX1	OMIM:614195
HP:0000364	Hearing abnormality	54949	SDHAF2	OMIM:601650
HP:0000364	Hearing abnormality	54949	SDHAF2	ORPHA:29072
HP:0000364	Hearing abnormality	7428	VHL	ORPHA:29072
HP:0000364	Hearing abnormality	7428	VHL	ORPHA:276621
HP:0000364	Hearing abnormality	1743	DLST	ORPHA:29072
HP:0000364	Hearing abnormality	4191	MDH2	ORPHA:29072
HP:0000364	Hearing abnormality	5979	RET	ORPHA:29072
HP:0000364	Hearing abnormality	5979	RET	ORPHA:276621
HP:0000364	Hearing abnormality	23095	KIF1B	ORPHA:29072
HP:0000364	Hearing abnormality	2271	FH	ORPHA:29072
HP:0000364	Hearing abnormality	8402	SLC25A11	ORPHA:29072
HP:0000364	Hearing abnormality	55654	TMEM127	ORPHA:29072
HP:0000364	Hearing abnormality	4763	NF1	ORPHA:29072
HP:0000364	Hearing abnormality	4149	MAX	ORPHA:29072
HP:0000364	Hearing abnormality	1788	DNMT3A	ORPHA:276621
HP:0000364	Hearing abnormality	2034	EPAS1	ORPHA:276621
HP:0000364	Hearing abnormality	57479	PRR12	OMIM:619539
HP:0000364	Hearing abnormality	55901	THSD1	OMIM:620244
HP:0000364	Hearing abnormality	5962	RDX	OMIM:611022
HP:0000364	Hearing abnormality	10518	CIB2	OMIM:609439
HP:0000364	Hearing abnormality	6558	SLC12A2	OMIM:619081
HP:0000364	Hearing abnormality	51168	MYO15A	OMIM:600316
HP:0000364	Hearing abnormality	4574	MT-TS1	OMIM:580000
HP:0000364	Hearing abnormality	55687	TRMU	OMIM:580000
HP:0000364	Hearing abnormality	1801	DPH1	ORPHA:459061
HP:0000364	Hearing abnormality	2059	EPS8	OMIM:615974
HP:0000364	Hearing abnormality	847	CAT	ORPHA:926
HP:0000366	Abnormality of the nose	3081	HGD	ORPHA:56
HP:0000366	Abnormality of the nose	114548	NLRP3	ORPHA:575
HP:0000366	Abnormality of the nose	50964	SOST	ORPHA:3152
HP:0000366	Abnormality of the nose	10479	SLC9A6	ORPHA:85278
HP:0000366	Abnormality of the nose	64327	LMBR1	ORPHA:2378
HP:0000366	Abnormality of the nose	6794	STK11	ORPHA:2869
HP:0000366	Abnormality of the nose	3115	HLA-DPB1	ORPHA:900
HP:0000366	Abnormality of the nose	5657	PRTN3	ORPHA:900
HP:0000366	Abnormality of the nose	3113	HLA-DPA1	ORPHA:900
HP:0000366	Abnormality of the nose	10195	ALG3	ORPHA:79321
HP:0000366	Abnormality of the nose	1908	EDN3	ORPHA:897
HP:0000366	Abnormality of the nose	4286	MITF	ORPHA:897
HP:0000366	Abnormality of the nose	1910	EDNRB	ORPHA:897
HP:0000366	Abnormality of the nose	6663	SOX10	ORPHA:897
HP:0000366	Abnormality of the nose	6697	SPR	ORPHA:70594
HP:0000366	Abnormality of the nose	11113	CIT	OMIM:617090
HP:0000366	Abnormality of the nose	27316	RBMX	OMIM:300238
HP:0000366	Abnormality of the nose	83932	SPRTN	OMIM:616200
HP:0000366	Abnormality of the nose	26128	KIFBP	OMIM:609460
HP:0000366	Abnormality of the nose	55627	SMPD4	OMIM:618622
HP:0000366	Abnormality of the nose	8854	ALDH1A2	OMIM:620025
HP:0000366	Abnormality of the nose	10084	PQBP1	ORPHA:93945
HP:0000366	Abnormality of the nose	10084	PQBP1	ORPHA:93946
HP:0000366	Abnormality of the nose	10084	PQBP1	OMIM:309500
HP:0000366	Abnormality of the nose	55690	PACS1	OMIM:615009
HP:0000366	Abnormality of the nose	55690	PACS1	ORPHA:329224
HP:0000366	Abnormality of the nose	284403	WDR62	OMIM:604317
HP:0000366	Abnormality of the nose	284098	PIGW	ORPHA:247262
HP:0000366	Abnormality of the nose	3899	AFF3	OMIM:619297
HP:0000366	Abnormality of the nose	23184	MESD	OMIM:618644
HP:0000366	Abnormality of the nose	55681	SCYL2	OMIM:618766
HP:0000366	Abnormality of the nose	1193	CLIC2	ORPHA:324410
HP:0000366	Abnormality of the nose	10717	AP4B1	OMIM:614066
HP:0000366	Abnormality of the nose	10717	AP4B1	ORPHA:280763
HP:0000366	Abnormality of the nose	55773	TBC1D23	OMIM:617695
HP:0000366	Abnormality of the nose	6660	SOX5	OMIM:616803
HP:0000366	Abnormality of the nose	79753	SNIP1	OMIM:614501
HP:0000366	Abnormality of the nose	9993	DGCR2	OMIM:192430
HP:0000366	Abnormality of the nose	8220	ESS2	OMIM:192430
HP:0000366	Abnormality of the nose	8214	DGCR6	OMIM:192430
HP:0000366	Abnormality of the nose	54487	DGCR8	OMIM:192430
HP:0000366	Abnormality of the nose	8621	CDK13	OMIM:617360
HP:0000366	Abnormality of the nose	1523	CUX1	OMIM:618330
HP:0000366	Abnormality of the nose	3720	JARID2	OMIM:620098
HP:0000366	Abnormality of the nose	10765	KDM5B	OMIM:618109
HP:0000366	Abnormality of the nose	51412	ACTL6B	OMIM:618470
HP:0000366	Abnormality of the nose	1436	CSF1R	OMIM:618476
HP:0000366	Abnormality of the nose	4953	ODC1	ORPHA:544488
HP:0000366	Abnormality of the nose	3759	KCNJ2	OMIM:170390
HP:0000366	Abnormality of the nose	3759	KCNJ2	ORPHA:37553
HP:0000366	Abnormality of the nose	10524	KAT5	OMIM:619103
HP:0000366	Abnormality of the nose	9757	KMT2B	OMIM:617284
HP:0000366	Abnormality of the nose	9757	KMT2B	ORPHA:589618
HP:0000366	Abnormality of the nose	9757	KMT2B	OMIM:619934
HP:0000366	Abnormality of the nose	22808	MRAS	OMIM:618499
HP:0000366	Abnormality of the nose	79644	SRD5A3	OMIM:612713
HP:0000366	Abnormality of the nose	57572	DOCK6	OMIM:614219
HP:0000366	Abnormality of the nose	57003	CCDC47	OMIM:618268
HP:0000366	Abnormality of the nose	26005	C2CD3	ORPHA:434179
HP:0000366	Abnormality of the nose	80781	COL18A1	OMIM:267750
HP:0000366	Abnormality of the nose	1376	CPT2	OMIM:608836
HP:0000366	Abnormality of the nose	80267	EDEM3	OMIM:619493
HP:0000366	Abnormality of the nose	2332	FMR1	ORPHA:261483
HP:0000366	Abnormality of the nose	1984	EIF5A	OMIM:619376
HP:0000366	Abnormality of the nose	1748	DLX4	OMIM:616788
HP:0000366	Abnormality of the nose	84700	MYO18B	OMIM:616549
HP:0000366	Abnormality of the nose	8777	MPDZ	OMIM:615219
HP:0000366	Abnormality of the nose	10844	TUBGCP2	OMIM:618737
HP:0000366	Abnormality of the nose	3762	KCNJ5	ORPHA:37553
HP:0000366	Abnormality of the nose	3187	HNRNPH1	OMIM:620083
HP:0000366	Abnormality of the nose	10651	MTX2	OMIM:619127
HP:0000366	Abnormality of the nose	1182	CLCN3	OMIM:619512
HP:0000366	Abnormality of the nose	54914	FOCAD	OMIM:619991
HP:0000366	Abnormality of the nose	5831	PYCR1	OMIM:612940
HP:0000366	Abnormality of the nose	5831	PYCR1	OMIM:614438
HP:0000366	Abnormality of the nose	5832	ALDH18A1	OMIM:219150
HP:0000366	Abnormality of the nose	2157	F8	ORPHA:177926
HP:0000366	Abnormality of the nose	2157	F8	ORPHA:169802
HP:0000366	Abnormality of the nose	2243	FGA	OMIM:202400
HP:0000366	Abnormality of the nose	2243	FGA	ORPHA:98880
HP:0000366	Abnormality of the nose	2243	FGA	ORPHA:98881
HP:0000366	Abnormality of the nose	2243	FGA	ORPHA:101041
HP:0000366	Abnormality of the nose	2244	FGB	OMIM:202400
HP:0000366	Abnormality of the nose	2244	FGB	ORPHA:98880
HP:0000366	Abnormality of the nose	2244	FGB	ORPHA:98881
HP:0000366	Abnormality of the nose	2244	FGB	ORPHA:101041
HP:0000366	Abnormality of the nose	2266	FGG	OMIM:202400
HP:0000366	Abnormality of the nose	2266	FGG	ORPHA:98880
HP:0000366	Abnormality of the nose	2266	FGG	ORPHA:98881
HP:0000366	Abnormality of the nose	2266	FGG	ORPHA:101041
HP:0000366	Abnormality of the nose	87	ACTN1	OMIM:615193
HP:0000366	Abnormality of the nose	2057	EPOR	ORPHA:90042
HP:0000366	Abnormality of the nose	5568	PRKACG	OMIM:616176
HP:0000366	Abnormality of the nose	2120	ETV6	OMIM:616216
HP:0000366	Abnormality of the nose	2162	F13A1	OMIM:613225
HP:0000366	Abnormality of the nose	2162	F13A1	ORPHA:331
HP:0000366	Abnormality of the nose	10235	RASGRP2	OMIM:615888
HP:0000366	Abnormality of the nose	90411	MCFD2	OMIM:613625
HP:0000366	Abnormality of the nose	90411	MCFD2	ORPHA:35909
HP:0000366	Abnormality of the nose	23218	NBEAL2	OMIM:139090
HP:0000366	Abnormality of the nose	23218	NBEAL2	ORPHA:721
HP:0000366	Abnormality of the nose	2165	F13B	ORPHA:331
HP:0000366	Abnormality of the nose	63915	BLOC1S5	OMIM:619172
HP:0000366	Abnormality of the nose	2533	FYB1	OMIM:273900
HP:0000366	Abnormality of the nose	3458	IFNG	ORPHA:88
HP:0000366	Abnormality of the nose	5551	PRF1	ORPHA:88
HP:0000366	Abnormality of the nose	7012	TERC	ORPHA:88
HP:0000366	Abnormality of the nose	51119	SBDS	ORPHA:88
HP:0000366	Abnormality of the nose	2159	F10	OMIM:227600
HP:0000366	Abnormality of the nose	2159	F10	ORPHA:328
HP:0000366	Abnormality of the nose	51206	GP6	OMIM:614201
HP:0000366	Abnormality of the nose	4352	MPL	ORPHA:729
HP:0000366	Abnormality of the nose	3717	JAK2	ORPHA:729
HP:0000366	Abnormality of the nose	54790	TET2	ORPHA:729
HP:0000366	Abnormality of the nose	2160	F11	ORPHA:329
HP:0000366	Abnormality of the nose	9103	FCGR2C	ORPHA:3002
HP:0000366	Abnormality of the nose	2147	F2	ORPHA:325
HP:0000366	Abnormality of the nose	2147	F2	OMIM:613679
HP:0000366	Abnormality of the nose	2155	F7	ORPHA:327
HP:0000366	Abnormality of the nose	2155	F7	OMIM:227500
HP:0000366	Abnormality of the nose	2153	F5	ORPHA:326
HP:0000366	Abnormality of the nose	2153	F5	OMIM:227400
HP:0000366	Abnormality of the nose	861	RUNX1	OMIM:601399
HP:0000366	Abnormality of the nose	776	CACNA1D	ORPHA:369929
HP:0000366	Abnormality of the nose	55340	GIMAP5	OMIM:619463
HP:0000366	Abnormality of the nose	5328	PLAU	OMIM:601709
HP:0000366	Abnormality of the nose	342618	SLFN14	OMIM:616913
HP:0000366	Abnormality of the nose	7450	VWF	OMIM:193400
HP:0000366	Abnormality of the nose	7450	VWF	OMIM:613554
HP:0000366	Abnormality of the nose	7450	VWF	OMIM:277480
HP:0000366	Abnormality of the nose	1053	CEBPE	OMIM:260570
HP:0000366	Abnormality of the nose	3257	HPS1	OMIM:203300
HP:0000366	Abnormality of the nose	83706	FERMT3	OMIM:612840
HP:0000366	Abnormality of the nose	5205	ATP8B1	OMIM:211600
HP:0000366	Abnormality of the nose	7456	WIPF1	ORPHA:906
HP:0000366	Abnormality of the nose	64805	P2RY12	OMIM:609821
HP:0000366	Abnormality of the nose	5054	SERPINE1	ORPHA:465
HP:0000366	Abnormality of the nose	89781	HPS4	OMIM:614073
HP:0000366	Abnormality of the nose	11234	HPS5	OMIM:614074
HP:0000366	Abnormality of the nose	388552	BLOC1S3	OMIM:614077
HP:0000366	Abnormality of the nose	3998	LMAN1	ORPHA:35909
HP:0000366	Abnormality of the nose	84062	DTNBP1	OMIM:614076
HP:0000366	Abnormality of the nose	2050	EPHB4	ORPHA:137667
HP:0000366	Abnormality of the nose	5921	RASA1	ORPHA:137667
HP:0000366	Abnormality of the nose	6915	TBXA2R	OMIM:614009
HP:0000366	Abnormality of the nose	1181	CLCN2	ORPHA:404
HP:0000366	Abnormality of the nose	1584	CYP11B1	ORPHA:403
HP:0000366	Abnormality of the nose	1585	CYP11B2	ORPHA:403
HP:0000366	Abnormality of the nose	5371	PML	ORPHA:520
HP:0000366	Abnormality of the nose	5914	RARA	ORPHA:520
HP:0000366	Abnormality of the nose	81608	FIP1L1	ORPHA:520
HP:0000366	Abnormality of the nose	4869	NPM1	ORPHA:520
HP:0000366	Abnormality of the nose	64859	NABP1	ORPHA:520
HP:0000366	Abnormality of the nose	4926	NUMA1	ORPHA:520
HP:0000366	Abnormality of the nose	7704	ZBTB16	ORPHA:520
HP:0000366	Abnormality of the nose	4615	MYD88	ORPHA:33226
HP:0000366	Abnormality of the nose	8328	GFI1B	OMIM:187900
HP:0000366	Abnormality of the nose	25970	SH2B1	ORPHA:261222
HP:0000366	Abnormality of the nose	10274	STAG1	ORPHA:502434
HP:0000366	Abnormality of the nose	10274	STAG1	OMIM:617635
HP:0000366	Abnormality of the nose	2590	GALNT2	OMIM:618885
HP:0000366	Abnormality of the nose	1327	COX4I1	OMIM:619060
HP:0000366	Abnormality of the nose	22884	WDR37	OMIM:618652
HP:0000366	Abnormality of the nose	92482	BBIP1	ORPHA:110
HP:0000366	Abnormality of the nose	51057	WDPCP	ORPHA:110
HP:0000366	Abnormality of the nose	27241	BBS9	ORPHA:110
HP:0000366	Abnormality of the nose	84984	CEP19	ORPHA:110
HP:0000366	Abnormality of the nose	22954	TRIM32	ORPHA:110
HP:0000366	Abnormality of the nose	79738	BBS10	ORPHA:110
HP:0000366	Abnormality of the nose	585	BBS4	ORPHA:110
HP:0000366	Abnormality of the nose	8195	MKKS	ORPHA:110
HP:0000366	Abnormality of the nose	166379	BBS12	ORPHA:110
HP:0000366	Abnormality of the nose	10806	SDCCAG8	ORPHA:110
HP:0000366	Abnormality of the nose	129880	BBS5	ORPHA:110
HP:0000366	Abnormality of the nose	65109	UPF3B	OMIM:300676
HP:0000366	Abnormality of the nose	65109	UPF3B	ORPHA:776
HP:0000366	Abnormality of the nose	116115	ZNF526	OMIM:619877
HP:0000366	Abnormality of the nose	4089	SMAD4	OMIM:139210
HP:0000366	Abnormality of the nose	8925	HERC1	OMIM:617011
HP:0000366	Abnormality of the nose	8925	HERC1	ORPHA:457359
HP:0000366	Abnormality of the nose	2334	AFF2	ORPHA:100973
HP:0000366	Abnormality of the nose	2334	AFF2	OMIM:309548
HP:0000366	Abnormality of the nose	51114	ZDHHC9	ORPHA:776
HP:0000366	Abnormality of the nose	1725	DHPS	OMIM:618480
HP:0000366	Abnormality of the nose	91647	ATPAF2	OMIM:604273
HP:0000366	Abnormality of the nose	23594	ORC6	OMIM:613803
HP:0000366	Abnormality of the nose	57038	RARS2	OMIM:611523
HP:0000366	Abnormality of the nose	375056	MIA3	OMIM:619269
HP:0000366	Abnormality of the nose	55217	TMLHE	OMIM:300872
HP:0000366	Abnormality of the nose	4598	MVK	OMIM:610377
HP:0000366	Abnormality of the nose	5000	ORC4	OMIM:613800
HP:0000366	Abnormality of the nose	8425	LTBP4	OMIM:613177
HP:0000366	Abnormality of the nose	3703	STT3A	OMIM:619714
HP:0000366	Abnormality of the nose	64220	STRA6	OMIM:601186
HP:0000366	Abnormality of the nose	318	NUDT2	OMIM:619844
HP:0000366	Abnormality of the nose	83696	TRAPPC9	OMIM:613192
HP:0000366	Abnormality of the nose	83696	TRAPPC9	ORPHA:352530
HP:0000366	Abnormality of the nose	54453	RIN2	OMIM:613075
HP:0000366	Abnormality of the nose	51319	RSRC1	OMIM:618402
HP:0000366	Abnormality of the nose	8726	EED	OMIM:617561
HP:0000366	Abnormality of the nose	7469	NELFA	ORPHA:280
HP:0000366	Abnormality of the nose	1501	CTNND2	ORPHA:281
HP:0000366	Abnormality of the nose	9037	SEMA5A	ORPHA:281
HP:0000366	Abnormality of the nose	11285	B4GALT7	OMIM:130070
HP:0000366	Abnormality of the nose	11285	B4GALT7	ORPHA:75496
HP:0000366	Abnormality of the nose	55621	TRMT1	OMIM:618302
HP:0000366	Abnormality of the nose	7862	BRPF1	OMIM:617333
HP:0000366	Abnormality of the nose	5593	PRKG2	OMIM:619636
HP:0000366	Abnormality of the nose	85365	ALG2	ORPHA:79326
HP:0000366	Abnormality of the nose	85365	ALG2	OMIM:607906
HP:0000366	Abnormality of the nose	54828	BCAS3	OMIM:619641
HP:0000366	Abnormality of the nose	2683	B4GALT1	ORPHA:79332
HP:0000366	Abnormality of the nose	8565	YARS1	OMIM:619418
HP:0000366	Abnormality of the nose	374969	SVBP	OMIM:618569
HP:0000366	Abnormality of the nose	6138	RPL15	ORPHA:124
HP:0000366	Abnormality of the nose	6229	RPS24	ORPHA:124
HP:0000366	Abnormality of the nose	6125	RPL5	ORPHA:124
HP:0000366	Abnormality of the nose	6204	RPS10	ORPHA:124
HP:0000366	Abnormality of the nose	6224	RPS20	ORPHA:124
HP:0000366	Abnormality of the nose	6165	RPL35A	ORPHA:124
HP:0000366	Abnormality of the nose	2623	GATA1	ORPHA:124
HP:0000366	Abnormality of the nose	6232	RPS27	ORPHA:124
HP:0000366	Abnormality of the nose	11224	RPL35	ORPHA:124
HP:0000366	Abnormality of the nose	6160	RPL31	ORPHA:124
HP:0000366	Abnormality of the nose	6218	RPS17	ORPHA:124
HP:0000366	Abnormality of the nose	6155	RPL27	ORPHA:124
HP:0000366	Abnormality of the nose	6154	RPL26	ORPHA:124
HP:0000366	Abnormality of the nose	6210	RPS15A	ORPHA:124
HP:0000366	Abnormality of the nose	90121	TSR2	ORPHA:124
HP:0000366	Abnormality of the nose	6141	RPL18	ORPHA:124
HP:0000366	Abnormality of the nose	6235	RPS29	ORPHA:124
HP:0000366	Abnormality of the nose	6234	RPS28	ORPHA:124
HP:0000366	Abnormality of the nose	6473	SHOX	ORPHA:240
HP:0000366	Abnormality of the nose	9488	PIGB	OMIM:618580
HP:0000366	Abnormality of the nose	30000	TNPO2	OMIM:619556
HP:0000366	Abnormality of the nose	56896	DPYSL5	OMIM:619435
HP:0000366	Abnormality of the nose	5308	PITX2	ORPHA:782
HP:0000366	Abnormality of the nose	5308	PITX2	OMIM:180500
HP:0000366	Abnormality of the nose	7372	UMPS	ORPHA:30
HP:0000366	Abnormality of the nose	23114	NFASC	OMIM:618356
HP:0000366	Abnormality of the nose	5934	RBL2	OMIM:619690
HP:0000366	Abnormality of the nose	83999	KREMEN1	OMIM:617392
HP:0000366	Abnormality of the nose	3039	HBA1	ORPHA:98791
HP:0000366	Abnormality of the nose	3040	HBA2	ORPHA:98791
HP:0000366	Abnormality of the nose	153642	ARSK	OMIM:619698
HP:0000366	Abnormality of the nose	9969	MED13	OMIM:618009
HP:0000366	Abnormality of the nose	92949	ADAMTSL1	ORPHA:521445
HP:0000366	Abnormality of the nose	668	FOXL2	OMIM:110100
HP:0000366	Abnormality of the nose	668	FOXL2	ORPHA:572333
HP:0000366	Abnormality of the nose	5913	RAPSN	OMIM:618388
HP:0000366	Abnormality of the nose	5894	RAF1	ORPHA:500
HP:0000366	Abnormality of the nose	4927	NUP88	OMIM:618393
HP:0000366	Abnormality of the nose	745	MYRF	OMIM:618280
HP:0000366	Abnormality of the nose	10020	GNE	ORPHA:3166
HP:0000366	Abnormality of the nose	10020	GNE	OMIM:269921
HP:0000366	Abnormality of the nose	27161	AGO2	OMIM:619149
HP:0000366	Abnormality of the nose	6499	SKIC2	ORPHA:84064
HP:0000366	Abnormality of the nose	6499	SKIC2	OMIM:614602
HP:0000366	Abnormality of the nose	23241	PACS2	OMIM:618067
HP:0000366	Abnormality of the nose	4758	NEU1	ORPHA:812
HP:0000366	Abnormality of the nose	1509	CTSD	OMIM:610127
HP:0000366	Abnormality of the nose	8546	AP3B1	OMIM:608233
HP:0000366	Abnormality of the nose	10352	WARS2	ORPHA:572798
HP:0000366	Abnormality of the nose	147372	CCBE1	ORPHA:2136
HP:0000366	Abnormality of the nose	147372	CCBE1	OMIM:235510
HP:0000366	Abnormality of the nose	51611	DPH5	OMIM:620070
HP:0000366	Abnormality of the nose	5591	PRKDC	OMIM:615966
HP:0000366	Abnormality of the nose	7355	SLC35A2	OMIM:300896
HP:0000366	Abnormality of the nose	7140	TNNT3	ORPHA:1147
HP:0000366	Abnormality of the nose	6509	SLC1A4	ORPHA:447997
HP:0000366	Abnormality of the nose	55081	IFT57	OMIM:617927
HP:0000366	Abnormality of the nose	9698	PUM1	OMIM:617931
HP:0000366	Abnormality of the nose	5859	QARS1	OMIM:615760
HP:0000366	Abnormality of the nose	10982	MAPRE2	OMIM:616734
HP:0000366	Abnormality of the nose	5925	RB1	ORPHA:1587
HP:0000366	Abnormality of the nose	55603	TENT5A	OMIM:617952
HP:0000366	Abnormality of the nose	7421	VDR	OMIM:277440
HP:0000366	Abnormality of the nose	139285	AMER1	ORPHA:2780
HP:0000366	Abnormality of the nose	139285	AMER1	OMIM:300373
HP:0000366	Abnormality of the nose	91461	PKDCC	OMIM:618821
HP:0000366	Abnormality of the nose	25914	RTTN	ORPHA:468631
HP:0000366	Abnormality of the nose	55617	TASP1	OMIM:618950
HP:0000366	Abnormality of the nose	114928	GPRASP2	OMIM:301018
HP:0000366	Abnormality of the nose	92335	STRADA	OMIM:611087
HP:0000366	Abnormality of the nose	6591	SNAI2	ORPHA:2884
HP:0000366	Abnormality of the nose	3815	KIT	ORPHA:2884
HP:0000366	Abnormality of the nose	51	ACOX1	OMIM:264470
HP:0000366	Abnormality of the nose	4750	NEK1	ORPHA:2751
HP:0000366	Abnormality of the nose	3778	KCNMA1	OMIM:618729
HP:0000366	Abnormality of the nose	56244	BTNL2	ORPHA:797
HP:0000366	Abnormality of the nose	94	ACVRL1	OMIM:600376
HP:0000366	Abnormality of the nose	2022	ENG	OMIM:187300
HP:0000366	Abnormality of the nose	55120	FANCL	OMIM:614083
HP:0000366	Abnormality of the nose	4593	MUSK	OMIM:208150
HP:0000366	Abnormality of the nose	5557	PRIM1	OMIM:620005
HP:0000366	Abnormality of the nose	78989	COLEC11	OMIM:265050
HP:0000366	Abnormality of the nose	22858	CILK1	OMIM:612651
HP:0000366	Abnormality of the nose	55770	EXOC2	OMIM:619306
HP:0000366	Abnormality of the nose	57724	EPG5	ORPHA:1493
HP:0000366	Abnormality of the nose	256297	PTF1A	OMIM:609069
HP:0000366	Abnormality of the nose	91754	NEK9	OMIM:617022
HP:0000366	Abnormality of the nose	221496	LEMD2	OMIM:619322
HP:0000366	Abnormality of the nose	6905	TBCE	ORPHA:2323
HP:0000366	Abnormality of the nose	6905	TBCE	OMIM:241410
HP:0000366	Abnormality of the nose	30008	EFEMP2	OMIM:614437
HP:0000366	Abnormality of the nose	7486	WRN	OMIM:277700
HP:0000366	Abnormality of the nose	7486	WRN	ORPHA:902
HP:0000366	Abnormality of the nose	79840	NHEJ1	ORPHA:169079
HP:0000366	Abnormality of the nose	1763	DNA2	OMIM:615807
HP:0000366	Abnormality of the nose	23511	NUP188	OMIM:618804
HP:0000366	Abnormality of the nose	1277	COL1A1	OMIM:166210
HP:0000366	Abnormality of the nose	1278	COL1A2	OMIM:166210
HP:0000366	Abnormality of the nose	157680	VPS13B	OMIM:216550
HP:0000366	Abnormality of the nose	5424	POLD1	OMIM:615381
HP:0000366	Abnormality of the nose	55012	PPP2R3C	OMIM:618419
HP:0000366	Abnormality of the nose	29980	DONSON	OMIM:617604
HP:0000366	Abnormality of the nose	29980	DONSON	OMIM:251230
HP:0000366	Abnormality of the nose	53834	FGFRL1	OMIM:194190
HP:0000366	Abnormality of the nose	1487	CTBP1	OMIM:194190
HP:0000366	Abnormality of the nose	3954	LETM1	OMIM:194190
HP:0000366	Abnormality of the nose	7468	NSD2	OMIM:194190
HP:0000366	Abnormality of the nose	10815	CPLX1	OMIM:194190
HP:0000366	Abnormality of the nose	3590	IL11RA	OMIM:614188
HP:0000366	Abnormality of the nose	10293	TRAIP	OMIM:616777
HP:0000366	Abnormality of the nose	10293	TRAIP	ORPHA:808
HP:0000366	Abnormality of the nose	22995	CEP152	OMIM:613823
HP:0000366	Abnormality of the nose	22995	CEP152	ORPHA:808
HP:0000366	Abnormality of the nose	113246	C12orf57	OMIM:218340
HP:0000366	Abnormality of the nose	8815	BANF1	OMIM:614008
HP:0000366	Abnormality of the nose	79902	NUP85	ORPHA:808
HP:0000366	Abnormality of the nose	84126	ATRIP	ORPHA:808
HP:0000366	Abnormality of the nose	860	RUNX2	OMIM:156510
HP:0000366	Abnormality of the nose	4212	MEIS2	ORPHA:261190
HP:0000366	Abnormality of the nose	10535	RNASEH2A	OMIM:610333
HP:0000366	Abnormality of the nose	10535	RNASEH2A	ORPHA:51
HP:0000366	Abnormality of the nose	84153	RNASEH2C	ORPHA:51
HP:0000366	Abnormality of the nose	25939	SAMHD1	ORPHA:51
HP:0000366	Abnormality of the nose	79621	RNASEH2B	ORPHA:51
HP:0000366	Abnormality of the nose	103	ADAR	ORPHA:51
HP:0000366	Abnormality of the nose	11277	TREX1	ORPHA:51
HP:0000366	Abnormality of the nose	100147744	RNU7-1	ORPHA:51
HP:0000366	Abnormality of the nose	134353	LSM11	ORPHA:51
HP:0000366	Abnormality of the nose	64135	IFIH1	ORPHA:51
HP:0000366	Abnormality of the nose	1281	COL3A1	ORPHA:2500
HP:0000366	Abnormality of the nose	51574	LARP7	OMIM:615071
HP:0000366	Abnormality of the nose	51574	LARP7	ORPHA:319671
HP:0000366	Abnormality of the nose	5396	PRRX1	OMIM:202650
HP:0000366	Abnormality of the nose	95	ACY1	ORPHA:137754
HP:0000366	Abnormality of the nose	55112	DYNC2I1	ORPHA:93271
HP:0000366	Abnormality of the nose	57560	IFT80	ORPHA:93271
HP:0000366	Abnormality of the nose	79659	DYNC2H1	ORPHA:93271
HP:0000366	Abnormality of the nose	89891	DYNC2I2	ORPHA:93271
HP:0000366	Abnormality of the nose	5649	RELN	ORPHA:89844
HP:0000366	Abnormality of the nose	54820	NDE1	ORPHA:89844
HP:0000366	Abnormality of the nose	4010	LMX1B	ORPHA:495818
HP:0000366	Abnormality of the nose	6812	STXBP1	ORPHA:495818
HP:0000366	Abnormality of the nose	7841	MOGS	OMIM:606056
HP:0000366	Abnormality of the nose	7841	MOGS	ORPHA:79330
HP:0000366	Abnormality of the nose	83550	GPR101	ORPHA:963
HP:0000366	Abnormality of the nose	9049	AIP	ORPHA:963
HP:0000366	Abnormality of the nose	54539	NDUFB11	ORPHA:2556
HP:0000366	Abnormality of the nose	3052	HCCS	ORPHA:2556
HP:0000366	Abnormality of the nose	8091	HMGA2	ORPHA:94063
HP:0000366	Abnormality of the nose	23592	LEMD3	ORPHA:94063
HP:0000366	Abnormality of the nose	54872	PIGG	ORPHA:488635
HP:0000366	Abnormality of the nose	4591	TRIM37	OMIM:253250
HP:0000366	Abnormality of the nose	57680	CHD8	OMIM:615032
HP:0000366	Abnormality of the nose	2517	FUCA1	OMIM:230000
HP:0000366	Abnormality of the nose	51633	OTUD6B	ORPHA:505237
HP:0000366	Abnormality of the nose	54187	NANS	OMIM:610442
HP:0000366	Abnormality of the nose	4193	MDM2	OMIM:618681
HP:0000366	Abnormality of the nose	54551	MAGEL2	ORPHA:398069
HP:0000366	Abnormality of the nose	54551	MAGEL2	OMIM:176270
HP:0000366	Abnormality of the nose	8200	GDF5	ORPHA:2639
HP:0000366	Abnormality of the nose	658	BMPR1B	ORPHA:2639
HP:0000366	Abnormality of the nose	4693	NDP	ORPHA:649
HP:0000366	Abnormality of the nose	7681	MKRN3	OMIM:176270
HP:0000366	Abnormality of the nose	3653	IPW	OMIM:176270
HP:0000366	Abnormality of the nose	791114	PWRN1	OMIM:176270
HP:0000366	Abnormality of the nose	100033413	SNORD116-1	OMIM:176270
HP:0000366	Abnormality of the nose	8924	HERC2	OMIM:176270
HP:0000366	Abnormality of the nose	145624	PWAR1	OMIM:176270
HP:0000366	Abnormality of the nose	23742	NPAP1	OMIM:176270
HP:0000366	Abnormality of the nose	338433	SNORD115-1	OMIM:176270
HP:0000366	Abnormality of the nose	4313	MMP2	OMIM:259600
HP:0000366	Abnormality of the nose	10236	HNRNPR	OMIM:620073
HP:0000366	Abnormality of the nose	10466	COG5	ORPHA:263487
HP:0000366	Abnormality of the nose	9853	RUSC2	OMIM:617773
HP:0000366	Abnormality of the nose	29926	GMPPA	OMIM:615510
HP:0000366	Abnormality of the nose	84942	WDR73	OMIM:251300
HP:0000366	Abnormality of the nose	3981	LIG4	OMIM:606593
HP:0000366	Abnormality of the nose	23118	TAB2	ORPHA:228410
HP:0000366	Abnormality of the nose	5932	RBBP8	OMIM:606744
HP:0000366	Abnormality of the nose	5932	RBBP8	OMIM:251255
HP:0000366	Abnormality of the nose	1062	CENPE	OMIM:616051
HP:0000366	Abnormality of the nose	23097	CDK19	OMIM:618916
HP:0000366	Abnormality of the nose	26224	FBXL3	OMIM:606220
HP:0000366	Abnormality of the nose	16	AARS1	OMIM:619691
HP:0000366	Abnormality of the nose	4810	NHS	OMIM:302350
HP:0000366	Abnormality of the nose	4810	NHS	ORPHA:627
HP:0000366	Abnormality of the nose	51132	RLIM	OMIM:300978
HP:0000366	Abnormality of the nose	1513	CTSK	OMIM:265800
HP:0000366	Abnormality of the nose	1513	CTSK	ORPHA:763
HP:0000366	Abnormality of the nose	444	ASPH	OMIM:601552
HP:0000366	Abnormality of the nose	23111	SPART	ORPHA:101000
HP:0000366	Abnormality of the nose	23258	DENND5A	OMIM:617281
HP:0000366	Abnormality of the nose	64919	BCL11B	OMIM:618092
HP:0000366	Abnormality of the nose	10297	APC2	OMIM:617169
HP:0000366	Abnormality of the nose	80185	TTI2	OMIM:615541
HP:0000366	Abnormality of the nose	80185	TTI2	ORPHA:391307
HP:0000366	Abnormality of the nose	51199	NIN	OMIM:614851
HP:0000366	Abnormality of the nose	51199	NIN	ORPHA:319675
HP:0000366	Abnormality of the nose	545	ATR	OMIM:210600
HP:0000366	Abnormality of the nose	5116	PCNT	OMIM:210720
HP:0000366	Abnormality of the nose	5116	PCNT	ORPHA:2637
HP:0000366	Abnormality of the nose	57061	HYMAI	ORPHA:96191
HP:0000366	Abnormality of the nose	5325	PLAGL1	ORPHA:96191
HP:0000366	Abnormality of the nose	11154	AP4S1	OMIM:614067
HP:0000366	Abnormality of the nose	80152	CENPT	OMIM:618702
HP:0000366	Abnormality of the nose	80067	DCAF17	ORPHA:3464
HP:0000366	Abnormality of the nose	3675	ITGA3	OMIM:614748
HP:0000366	Abnormality of the nose	55719	SLF2	OMIM:620184
HP:0000366	Abnormality of the nose	23137	SMC5	OMIM:620185
HP:0000366	Abnormality of the nose	79759	ZNF668	OMIM:620194
HP:0000366	Abnormality of the nose	10436	EMG1	ORPHA:1270
HP:0000366	Abnormality of the nose	10436	EMG1	OMIM:211180
HP:0000366	Abnormality of the nose	55755	CDK5RAP2	OMIM:604804
HP:0000366	Abnormality of the nose	91875	TTC5	OMIM:619244
HP:0000366	Abnormality of the nose	6786	STIM1	OMIM:185070
HP:0000366	Abnormality of the nose	8450	CUL4B	ORPHA:85293
HP:0000366	Abnormality of the nose	9562	MINPP1	OMIM:619527
HP:0000366	Abnormality of the nose	2273	FHL1	OMIM:300280
HP:0000366	Abnormality of the nose	54888	NSUN2	OMIM:611091
HP:0000366	Abnormality of the nose	8218	CLTCL1	ORPHA:453510
HP:0000366	Abnormality of the nose	1107	CHD3	OMIM:618205
HP:0000366	Abnormality of the nose	5718	PSMD12	OMIM:617516
HP:0000366	Abnormality of the nose	55553	SOX6	OMIM:618971
HP:0000366	Abnormality of the nose	55181	SMG8	OMIM:619268
HP:0000366	Abnormality of the nose	9775	EIF4A3	OMIM:268305
HP:0000366	Abnormality of the nose	55331	ACER3	OMIM:617762
HP:0000366	Abnormality of the nose	6878	TAF6	OMIM:617126
HP:0000366	Abnormality of the nose	27152	INTU	OMIM:617926
HP:0000366	Abnormality of the nose	3476	IGBP1	OMIM:300472
HP:0000366	Abnormality of the nose	3476	IGBP1	ORPHA:52055
HP:0000366	Abnormality of the nose	2904	GRIN2B	OMIM:613970
HP:0000366	Abnormality of the nose	5784	PTPN14	OMIM:613611
HP:0000366	Abnormality of the nose	6299	SALL1	OMIM:107480
HP:0000366	Abnormality of the nose	613	BCR	ORPHA:261330
HP:0000366	Abnormality of the nose	1399	CRKL	ORPHA:261330
HP:0000366	Abnormality of the nose	1723	DHODH	OMIM:263750
HP:0000366	Abnormality of the nose	169792	GLIS3	OMIM:610199
HP:0000366	Abnormality of the nose	999	CDH1	OMIM:119580
HP:0000366	Abnormality of the nose	4072	EPCAM	ORPHA:92050
HP:0000366	Abnormality of the nose	105371045	PERCC1	ORPHA:92050
HP:0000366	Abnormality of the nose	63925	ZNF335	OMIM:615095
HP:0000366	Abnormality of the nose	10459	MAD2L2	ORPHA:84
HP:0000366	Abnormality of the nose	7516	XRCC2	ORPHA:84
HP:0000366	Abnormality of the nose	29089	UBE2T	ORPHA:84
HP:0000366	Abnormality of the nose	675	BRCA2	ORPHA:84
HP:0000366	Abnormality of the nose	2177	FANCD2	ORPHA:84
HP:0000366	Abnormality of the nose	2175	FANCA	ORPHA:84
HP:0000366	Abnormality of the nose	2187	FANCB	ORPHA:84
HP:0000366	Abnormality of the nose	2176	FANCC	ORPHA:84
HP:0000366	Abnormality of the nose	2178	FANCE	ORPHA:84
HP:0000366	Abnormality of the nose	2188	FANCF	ORPHA:84
HP:0000366	Abnormality of the nose	2189	FANCG	ORPHA:84
HP:0000366	Abnormality of the nose	5888	RAD51	ORPHA:84
HP:0000366	Abnormality of the nose	5889	RAD51C	ORPHA:84
HP:0000366	Abnormality of the nose	55159	RFWD3	ORPHA:84
HP:0000366	Abnormality of the nose	83990	BRIP1	ORPHA:84
HP:0000366	Abnormality of the nose	57697	FANCM	ORPHA:84
HP:0000366	Abnormality of the nose	79728	PALB2	ORPHA:84
HP:0000366	Abnormality of the nose	84464	SLX4	ORPHA:84
HP:0000366	Abnormality of the nose	55215	FANCI	ORPHA:84
HP:0000366	Abnormality of the nose	1312	COMT	ORPHA:567
HP:0000366	Abnormality of the nose	221037	JMJD1C	ORPHA:567
HP:0000366	Abnormality of the nose	2812	GP1BB	ORPHA:567
HP:0000366	Abnormality of the nose	6239	RREB1	ORPHA:567
HP:0000366	Abnormality of the nose	7290	HIRA	ORPHA:567
HP:0000366	Abnormality of the nose	9632	SEC24C	ORPHA:567
HP:0000366	Abnormality of the nose	7353	UFD1	ORPHA:567
HP:0000366	Abnormality of the nose	421	ARVCF	ORPHA:567
HP:0000366	Abnormality of the nose	2304	FOXE1	ORPHA:1226
HP:0000366	Abnormality of the nose	51729	WBP11	OMIM:619227
HP:0000366	Abnormality of the nose	9791	PTDSS1	OMIM:151050
HP:0000366	Abnormality of the nose	9791	PTDSS1	ORPHA:2658
HP:0000366	Abnormality of the nose	6135	RPL11	OMIM:612562
HP:0000366	Abnormality of the nose	9289	ADGRG1	ORPHA:98889
HP:0000366	Abnormality of the nose	5297	PI4KA	ORPHA:98889
HP:0000366	Abnormality of the nose	27286	SRPX2	ORPHA:98889
HP:0000366	Abnormality of the nose	10653	SPINT2	OMIM:270420
HP:0000366	Abnormality of the nose	84172	POLR1B	ORPHA:861
HP:0000366	Abnormality of the nose	9533	POLR1C	ORPHA:861
HP:0000366	Abnormality of the nose	51082	POLR1D	ORPHA:861
HP:0000366	Abnormality of the nose	51082	POLR1D	OMIM:613717
HP:0000366	Abnormality of the nose	6949	TCOF1	ORPHA:861
HP:0000366	Abnormality of the nose	6949	TCOF1	OMIM:154500
HP:0000366	Abnormality of the nose	6558	SLC12A2	OMIM:619080
HP:0000366	Abnormality of the nose	8318	CDC45	OMIM:617063
HP:0000366	Abnormality of the nose	83737	ITCH	OMIM:613385
HP:0000366	Abnormality of the nose	83737	ITCH	ORPHA:228426
HP:0000366	Abnormality of the nose	6231	RPS26	OMIM:613309
HP:0000366	Abnormality of the nose	7473	WNT3	OMIM:273395
HP:0000366	Abnormality of the nose	998	CDC42	ORPHA:487796
HP:0000366	Abnormality of the nose	998	CDC42	OMIM:616737
HP:0000366	Abnormality of the nose	26057	ANKRD17	OMIM:619504
HP:0000366	Abnormality of the nose	79184	BRCC3	ORPHA:280679
HP:0000366	Abnormality of the nose	3480	IGF1R	ORPHA:73273
HP:0000366	Abnormality of the nose	57459	GATAD2B	OMIM:615074
HP:0000366	Abnormality of the nose	57459	GATAD2B	ORPHA:363686
HP:0000366	Abnormality of the nose	1499	CTNNB1	OMIM:615075
HP:0000366	Abnormality of the nose	1499	CTNNB1	ORPHA:404473
HP:0000366	Abnormality of the nose	6909	TBX2	OMIM:618223
HP:0000366	Abnormality of the nose	84282	RNF135	ORPHA:137634
HP:0000366	Abnormality of the nose	11133	KPTN	OMIM:615637
HP:0000366	Abnormality of the nose	6418	SET	OMIM:618106
HP:0000366	Abnormality of the nose	7021	TFAP2B	OMIM:169100
HP:0000366	Abnormality of the nose	23126	POGZ	ORPHA:468678
HP:0000366	Abnormality of the nose	23126	POGZ	OMIM:616364
HP:0000366	Abnormality of the nose	5575	PRKAR1B	OMIM:619680
HP:0000366	Abnormality of the nose	5515	PPP2CA	OMIM:618354
HP:0000366	Abnormality of the nose	57511	COG6	ORPHA:363523
HP:0000366	Abnormality of the nose	55784	MCTP2	ORPHA:1596
HP:0000366	Abnormality of the nose	112939	NACC1	ORPHA:500545
HP:0000366	Abnormality of the nose	112939	NACC1	OMIM:617393
HP:0000366	Abnormality of the nose	5915	RARB	OMIM:615524
HP:0000366	Abnormality of the nose	10847	SRCAP	ORPHA:2044
HP:0000366	Abnormality of the nose	29072	SETD2	OMIM:620157
HP:0000366	Abnormality of the nose	29072	SETD2	OMIM:620155
HP:0000366	Abnormality of the nose	4052	LTBP1	OMIM:619451
HP:0000366	Abnormality of the nose	7528	YY1	OMIM:617557
HP:0000366	Abnormality of the nose	7994	KAT6A	ORPHA:457193
HP:0000366	Abnormality of the nose	7994	KAT6A	OMIM:616268
HP:0000366	Abnormality of the nose	114034	TOE1	OMIM:614969
HP:0000366	Abnormality of the nose	23325	WASHC4	OMIM:615817
HP:0000366	Abnormality of the nose	7020	TFAP2A	OMIM:113620
HP:0000366	Abnormality of the nose	7020	TFAP2A	ORPHA:1297
HP:0000366	Abnormality of the nose	51305	KCNK9	ORPHA:166108
HP:0000366	Abnormality of the nose	3782	KCNN3	OMIM:618658
HP:0000366	Abnormality of the nose	9653	HS2ST1	OMIM:619194
HP:0000366	Abnormality of the nose	8812	CCNK	OMIM:618147
HP:0000366	Abnormality of the nose	29081	METTL5	OMIM:618665
HP:0000366	Abnormality of the nose	8558	CDK10	OMIM:617694
HP:0000366	Abnormality of the nose	8364	H4C3	OMIM:619758
HP:0000366	Abnormality of the nose	2132	EXT2	ORPHA:52022
HP:0000366	Abnormality of the nose	51317	PHF21A	ORPHA:52022
HP:0000366	Abnormality of the nose	11198	SUPT16H	OMIM:619480
HP:0000366	Abnormality of the nose	54880	BCOR	OMIM:300166
HP:0000366	Abnormality of the nose	54870	QRICH1	OMIM:617982
HP:0000366	Abnormality of the nose	50485	SMARCAL1	ORPHA:1830
HP:0000366	Abnormality of the nose	81887	LAS1L	ORPHA:3459
HP:0000366	Abnormality of the nose	55252	ASXL2	OMIM:617190
HP:0000366	Abnormality of the nose	7518	XRCC4	OMIM:616541
HP:0000366	Abnormality of the nose	178	AGL	OMIM:232400
HP:0000366	Abnormality of the nose	51780	KDM3B	OMIM:618846
HP:0000366	Abnormality of the nose	2186	BPTF	OMIM:617755
HP:0000366	Abnormality of the nose	23133	PHF8	ORPHA:85287
HP:0000366	Abnormality of the nose	23133	PHF8	OMIM:300263
HP:0000366	Abnormality of the nose	23219	FBXO28	OMIM:619777
HP:0000366	Abnormality of the nose	170692	ADAMTS18	OMIM:615458
HP:0000366	Abnormality of the nose	5147	PDE6D	ORPHA:2754
HP:0000366	Abnormality of the nose	11011	TLK2	OMIM:618050
HP:0000366	Abnormality of the nose	6261	RYR1	OMIM:619542
HP:0000366	Abnormality of the nose	1968	EIF2S3	OMIM:300148
HP:0000366	Abnormality of the nose	10736	SIX2	ORPHA:488437
HP:0000366	Abnormality of the nose	25886	POC1A	OMIM:614813
HP:0000366	Abnormality of the nose	55835	CENPJ	OMIM:608393
HP:0000366	Abnormality of the nose	9758	FRMPD4	OMIM:300983
HP:0000366	Abnormality of the nose	1947	EFNB1	ORPHA:1520
HP:0000366	Abnormality of the nose	9342	SNAP29	ORPHA:66631
HP:0000366	Abnormality of the nose	10157	AASS	ORPHA:2203
HP:0000366	Abnormality of the nose	4125	MAN2B1	OMIM:248500
HP:0000366	Abnormality of the nose	84314	TMEM107	ORPHA:564
HP:0000366	Abnormality of the nose	57096	RPGRIP1	ORPHA:564
HP:0000366	Abnormality of the nose	9184	BUB3	ORPHA:1052
HP:0000366	Abnormality of the nose	699	BUB1	ORPHA:1052
HP:0000366	Abnormality of the nose	9319	TRIP13	ORPHA:1052
HP:0000366	Abnormality of the nose	2688	GH1	OMIM:262400
HP:0000366	Abnormality of the nose	6491	STIL	ORPHA:93926
HP:0000366	Abnormality of the nose	6491	STIL	ORPHA:93924
HP:0000366	Abnormality of the nose	6491	STIL	ORPHA:93925
HP:0000366	Abnormality of the nose	6491	STIL	ORPHA:220386
HP:0000366	Abnormality of the nose	10735	STAG2	ORPHA:93925
HP:0000366	Abnormality of the nose	10735	STAG2	ORPHA:220386
HP:0000366	Abnormality of the nose	9487	PIGL	ORPHA:3474
HP:0000366	Abnormality of the nose	26227	PHGDH	OMIM:256520
HP:0000366	Abnormality of the nose	5979	RET	ORPHA:1848
HP:0000366	Abnormality of the nose	8516	ITGA8	ORPHA:1848
HP:0000366	Abnormality of the nose	26281	FGF20	ORPHA:1848
HP:0000366	Abnormality of the nose	2674	GFRA1	ORPHA:1848
HP:0000366	Abnormality of the nose	7484	WNT9B	ORPHA:1848
HP:0000366	Abnormality of the nose	80000	GREB1L	ORPHA:1848
HP:0000366	Abnormality of the nose	5590	PRKCZ	ORPHA:1606
HP:0000366	Abnormality of the nose	2563	GABRD	ORPHA:1606
HP:0000366	Abnormality of the nose	8510	MMP23B	ORPHA:1606
HP:0000366	Abnormality of the nose	7798	LUZP1	ORPHA:1606
HP:0000366	Abnormality of the nose	10630	PDPN	ORPHA:1606
HP:0000366	Abnormality of the nose	10277	UBE4B	ORPHA:1606
HP:0000366	Abnormality of the nose	8514	KCNAB2	ORPHA:1606
HP:0000366	Abnormality of the nose	63976	PRDM16	ORPHA:1606
HP:0000366	Abnormality of the nose	54897	CASZ1	ORPHA:1606
HP:0000366	Abnormality of the nose	6899	TBX1	ORPHA:1727
HP:0000366	Abnormality of the nose	5626	PROP1	ORPHA:95494
HP:0000366	Abnormality of the nose	5626	PROP1	ORPHA:90695
HP:0000366	Abnormality of the nose	89884	LHX4	ORPHA:95494
HP:0000366	Abnormality of the nose	3170	FOXA2	ORPHA:95494
HP:0000366	Abnormality of the nose	60401	EDA2R	ORPHA:181
HP:0000366	Abnormality of the nose	26154	ABCA12	ORPHA:457
HP:0000366	Abnormality of the nose	199221	DZIP1L	ORPHA:731
HP:0000366	Abnormality of the nose	5314	PKHD1	ORPHA:731
HP:0000366	Abnormality of the nose	55343	SLC35C1	ORPHA:99843
HP:0000366	Abnormality of the nose	3930	LBR	OMIM:215140
HP:0000366	Abnormality of the nose	6223	RPS19	OMIM:105650
HP:0000366	Abnormality of the nose	5781	PTPN11	OMIM:151100
HP:0000366	Abnormality of the nose	29968	PSAT1	OMIM:616038
HP:0000366	Abnormality of the nose	5081	PAX7	OMIM:618578
HP:0000366	Abnormality of the nose	1146	CHRNG	OMIM:253290
HP:0000366	Abnormality of the nose	1144	CHRND	OMIM:253290
HP:0000366	Abnormality of the nose	1134	CHRNA1	OMIM:253290
HP:0000366	Abnormality of the nose	2690	GHR	ORPHA:633
HP:0000366	Abnormality of the nose	7189	TRAF6	ORPHA:1810
HP:0000366	Abnormality of the nose	128178	EDARADD	ORPHA:1810
HP:0000366	Abnormality of the nose	10913	EDAR	ORPHA:1810
HP:0000366	Abnormality of the nose	27019	DNAI1	OMIM:244400
HP:0000366	Abnormality of the nose	23347	SMCHD1	ORPHA:2250
HP:0000366	Abnormality of the nose	23347	SMCHD1	OMIM:603457
HP:0000366	Abnormality of the nose	8822	FGF17	OMIM:615270
HP:0000366	Abnormality of the nose	8822	FGF17	ORPHA:478
HP:0000366	Abnormality of the nose	128674	PROKR2	OMIM:244200
HP:0000366	Abnormality of the nose	128674	PROKR2	ORPHA:3157
HP:0000366	Abnormality of the nose	128674	PROKR2	ORPHA:478
HP:0000366	Abnormality of the nose	54585	LZTFL1	OMIM:615994
HP:0000366	Abnormality of the nose	6938	TCF12	OMIM:619718
HP:0000366	Abnormality of the nose	4808	NHLH2	OMIM:619755
HP:0000366	Abnormality of the nose	286	ANK1	ORPHA:251066
HP:0000366	Abnormality of the nose	60675	PROK2	OMIM:610628
HP:0000366	Abnormality of the nose	60675	PROK2	ORPHA:478
HP:0000366	Abnormality of the nose	2488	FSHB	ORPHA:52901
HP:0000366	Abnormality of the nose	5191	PEX7	OMIM:266500
HP:0000366	Abnormality of the nose	5191	PEX7	OMIM:614879
HP:0000366	Abnormality of the nose	5191	PEX7	ORPHA:773
HP:0000366	Abnormality of the nose	5264	PHYH	OMIM:266500
HP:0000366	Abnormality of the nose	5264	PHYH	ORPHA:773
HP:0000366	Abnormality of the nose	55636	CHD7	OMIM:612370
HP:0000366	Abnormality of the nose	55636	CHD7	ORPHA:138
HP:0000366	Abnormality of the nose	55636	CHD7	OMIM:214800
HP:0000366	Abnormality of the nose	55636	CHD7	ORPHA:478
HP:0000366	Abnormality of the nose	6335	SCN9A	OMIM:243000
HP:0000366	Abnormality of the nose	2255	FGF10	ORPHA:2363
HP:0000366	Abnormality of the nose	84634	KISS1R	OMIM:614837
HP:0000366	Abnormality of the nose	23516	SLC39A14	OMIM:144755
HP:0000366	Abnormality of the nose	9723	SEMA3E	ORPHA:138
HP:0000366	Abnormality of the nose	6866	TAC3	OMIM:614839
HP:0000366	Abnormality of the nose	79625	NDNF	OMIM:618841
HP:0000366	Abnormality of the nose	79625	NDNF	ORPHA:478
HP:0000366	Abnormality of the nose	9394	HS6ST1	OMIM:614880
HP:0000366	Abnormality of the nose	9394	HS6ST1	ORPHA:478
HP:0000366	Abnormality of the nose	2796	GNRH1	OMIM:614841
HP:0000366	Abnormality of the nose	3814	KISS1	OMIM:614842
HP:0000366	Abnormality of the nose	23400	ATP13A2	OMIM:606693
HP:0000366	Abnormality of the nose	3730	ANOS1	OMIM:308700
HP:0000366	Abnormality of the nose	3730	ANOS1	ORPHA:478
HP:0000366	Abnormality of the nose	389549	FEZF1	OMIM:616030
HP:0000366	Abnormality of the nose	389549	FEZF1	ORPHA:478
HP:0000366	Abnormality of the nose	54756	IL17RD	OMIM:615267
HP:0000366	Abnormality of the nose	54756	IL17RD	ORPHA:478
HP:0000366	Abnormality of the nose	109	ADCY3	OMIM:617885
HP:0000366	Abnormality of the nose	10371	SEMA3A	OMIM:614897
HP:0000366	Abnormality of the nose	10371	SEMA3A	ORPHA:478
HP:0000366	Abnormality of the nose	55717	WDR11	OMIM:614858
HP:0000366	Abnormality of the nose	55717	WDR11	ORPHA:478
HP:0000366	Abnormality of the nose	6657	SOX2	ORPHA:3157
HP:0000366	Abnormality of the nose	6658	SOX3	ORPHA:3157
HP:0000366	Abnormality of the nose	9915	ARNT2	ORPHA:3157
HP:0000366	Abnormality of the nose	8820	HESX1	ORPHA:3157
HP:0000366	Abnormality of the nose	8820	HESX1	ORPHA:478
HP:0000366	Abnormality of the nose	5015	OTX2	ORPHA:3157
HP:0000366	Abnormality of the nose	9927	MFN2	OMIM:601152
HP:0000366	Abnormality of the nose	81848	SPRY4	ORPHA:478
HP:0000366	Abnormality of the nose	23767	FLRT3	ORPHA:478
HP:0000366	Abnormality of the nose	1630	DCC	ORPHA:478
HP:0000366	Abnormality of the nose	285025	CCDC141	ORPHA:478
HP:0000366	Abnormality of the nose	1848	DUSP6	ORPHA:478
HP:0000366	Abnormality of the nose	6870	TACR3	ORPHA:478
HP:0000366	Abnormality of the nose	54	ACP5	OMIM:607944
HP:0000366	Abnormality of the nose	23483	TGDS	OMIM:616145
HP:0000366	Abnormality of the nose	92002	CCNQ	OMIM:300707
HP:0000366	Abnormality of the nose	1161	ERCC8	ORPHA:90324
HP:0000366	Abnormality of the nose	2074	ERCC6	ORPHA:90324
HP:0000366	Abnormality of the nose	9968	MED12	OMIM:309520
HP:0000366	Abnormality of the nose	4000	LMNA	OMIM:212112
HP:0000366	Abnormality of the nose	91179	SCARF2	OMIM:600920
HP:0000366	Abnormality of the nose	833	CARS1	OMIM:618891
HP:0000366	Abnormality of the nose	1289	COL5A1	OMIM:619329
HP:0000366	Abnormality of the nose	8367	H4C5	OMIM:619950
HP:0000366	Abnormality of the nose	9820	CUL7	ORPHA:2616
HP:0000366	Abnormality of the nose	9820	CUL7	OMIM:273750
HP:0000366	Abnormality of the nose	23363	OBSL1	ORPHA:2616
HP:0000366	Abnormality of the nose	23363	OBSL1	OMIM:612921
HP:0000366	Abnormality of the nose	83987	CCDC8	ORPHA:2616
HP:0000366	Abnormality of the nose	83987	CCDC8	OMIM:614205
HP:0000366	Abnormality of the nose	81857	MED25	OMIM:616449
HP:0000366	Abnormality of the nose	81857	MED25	ORPHA:464738
HP:0000366	Abnormality of the nose	5457	POU4F1	ORPHA:314647
HP:0000366	Abnormality of the nose	23261	CAMTA1	ORPHA:314647
HP:0000366	Abnormality of the nose	23261	CAMTA1	OMIM:614756
HP:0000366	Abnormality of the nose	55209	SETD5	ORPHA:404440
HP:0000366	Abnormality of the nose	55209	SETD5	OMIM:615761
HP:0000366	Abnormality of the nose	116931	MED12L	OMIM:618872
HP:0000366	Abnormality of the nose	9578	CDC42BPB	OMIM:619841
HP:0000366	Abnormality of the nose	3020	H3-3A	OMIM:619720
HP:0000366	Abnormality of the nose	10300	KATNB1	OMIM:616212
HP:0000366	Abnormality of the nose	6536	SLC6A9	OMIM:617301
HP:0000366	Abnormality of the nose	51741	WWOX	OMIM:616211
HP:0000366	Abnormality of the nose	55790	CSGALNACT1	OMIM:618870
HP:0000366	Abnormality of the nose	55790	CSGALNACT1	ORPHA:1425
HP:0000366	Abnormality of the nose	5830	PEX5	OMIM:202370
HP:0000366	Abnormality of the nose	5830	PEX5	ORPHA:44
HP:0000366	Abnormality of the nose	23322	RPGRIP1L	ORPHA:220497
HP:0000366	Abnormality of the nose	23322	RPGRIP1L	ORPHA:1454
HP:0000366	Abnormality of the nose	4867	NPHP1	ORPHA:220497
HP:0000366	Abnormality of the nose	65062	TMEM237	ORPHA:220497
HP:0000366	Abnormality of the nose	65062	TMEM237	ORPHA:475
HP:0000366	Abnormality of the nose	65062	TMEM237	ORPHA:2318
HP:0000366	Abnormality of the nose	79639	TMEM53	OMIM:619727
HP:0000366	Abnormality of the nose	72	ACTG2	ORPHA:2604
HP:0000366	Abnormality of the nose	54806	AHI1	ORPHA:220493
HP:0000366	Abnormality of the nose	54806	AHI1	ORPHA:475
HP:0000366	Abnormality of the nose	54806	AHI1	ORPHA:791
HP:0000366	Abnormality of the nose	54806	AHI1	OMIM:608629
HP:0000366	Abnormality of the nose	56623	INPP5E	ORPHA:220493
HP:0000366	Abnormality of the nose	56623	INPP5E	ORPHA:475
HP:0000366	Abnormality of the nose	56623	INPP5E	OMIM:213300
HP:0000366	Abnormality of the nose	56623	INPP5E	ORPHA:1454
HP:0000366	Abnormality of the nose	153241	CEP120	ORPHA:220493
HP:0000366	Abnormality of the nose	153241	CEP120	ORPHA:475
HP:0000366	Abnormality of the nose	54903	MKS1	ORPHA:220493
HP:0000366	Abnormality of the nose	54903	MKS1	ORPHA:475
HP:0000366	Abnormality of the nose	95681	CEP41	ORPHA:220493
HP:0000366	Abnormality of the nose	95681	CEP41	ORPHA:475
HP:0000366	Abnormality of the nose	3764	KCNJ8	ORPHA:1517
HP:0000366	Abnormality of the nose	10060	ABCC9	ORPHA:1517
HP:0000366	Abnormality of the nose	10060	ABCC9	OMIM:239850
HP:0000366	Abnormality of the nose	79158	GNPTAB	OMIM:252500
HP:0000366	Abnormality of the nose	57539	WDR35	ORPHA:1515
HP:0000366	Abnormality of the nose	112752	IFT43	ORPHA:1515
HP:0000366	Abnormality of the nose	51098	IFT52	ORPHA:1515
HP:0000366	Abnormality of the nose	55764	IFT122	ORPHA:1515
HP:0000366	Abnormality of the nose	55764	IFT122	OMIM:218330
HP:0000366	Abnormality of the nose	57728	WDR19	ORPHA:1515
HP:0000366	Abnormality of the nose	57728	WDR19	OMIM:614378
HP:0000366	Abnormality of the nose	5189	PEX1	OMIM:214100
HP:0000366	Abnormality of the nose	5189	PEX1	ORPHA:44
HP:0000366	Abnormality of the nose	6023	RMRP	ORPHA:175
HP:0000366	Abnormality of the nose	57589	RIC1	OMIM:618761
HP:0000366	Abnormality of the nose	79868	ALG13	ORPHA:324422
HP:0000366	Abnormality of the nose	79868	ALG13	OMIM:300884
HP:0000366	Abnormality of the nose	317662	FAM149B1	OMIM:618763
HP:0000366	Abnormality of the nose	55870	ASH1L	OMIM:617796
HP:0000366	Abnormality of the nose	11232	POLG2	OMIM:618528
HP:0000366	Abnormality of the nose	4853	NOTCH2	OMIM:102500
HP:0000366	Abnormality of the nose	4853	NOTCH2	ORPHA:955
HP:0000366	Abnormality of the nose	6872	TAF1	ORPHA:480907
HP:0000366	Abnormality of the nose	6872	TAF1	OMIM:300966
HP:0000366	Abnormality of the nose	171023	ASXL1	ORPHA:97297
HP:0000366	Abnormality of the nose	171023	ASXL1	OMIM:605039
HP:0000366	Abnormality of the nose	10484	SEC23A	OMIM:607812
HP:0000366	Abnormality of the nose	10087	CERT1	OMIM:616351
HP:0000366	Abnormality of the nose	54968	TMEM70	OMIM:614052
HP:0000366	Abnormality of the nose	5442	POLRMT	OMIM:619743
HP:0000366	Abnormality of the nose	57231	SNX14	OMIM:616354
HP:0000366	Abnormality of the nose	8241	RBM10	OMIM:311900
HP:0000366	Abnormality of the nose	8241	RBM10	ORPHA:2886
HP:0000366	Abnormality of the nose	9935	MAFB	ORPHA:233
HP:0000366	Abnormality of the nose	1123	CHN1	ORPHA:233
HP:0000366	Abnormality of the nose	79600	TCTN1	ORPHA:475
HP:0000366	Abnormality of the nose	79848	CSPP1	ORPHA:475
HP:0000366	Abnormality of the nose	65250	CPLANE1	ORPHA:475
HP:0000366	Abnormality of the nose	91147	TMEM67	ORPHA:475
HP:0000366	Abnormality of the nose	91147	TMEM67	OMIM:216360
HP:0000366	Abnormality of the nose	91147	TMEM67	ORPHA:1454
HP:0000366	Abnormality of the nose	200894	ARL13B	ORPHA:475
HP:0000366	Abnormality of the nose	9731	CEP104	ORPHA:475
HP:0000366	Abnormality of the nose	219854	TMEM218	ORPHA:475
HP:0000366	Abnormality of the nose	9786	KIAA0586	ORPHA:475
HP:0000366	Abnormality of the nose	80776	B9D2	ORPHA:475
HP:0000366	Abnormality of the nose	10464	PIBF1	ORPHA:475
HP:0000366	Abnormality of the nose	80210	ARMC9	ORPHA:475
HP:0000366	Abnormality of the nose	23116	TOGARAM1	ORPHA:475
HP:0000366	Abnormality of the nose	23116	TOGARAM1	OMIM:619185
HP:0000366	Abnormality of the nose	25776	CBY1	ORPHA:475
HP:0000366	Abnormality of the nose	27077	B9D1	ORPHA:475
HP:0000366	Abnormality of the nose	403	ARL3	ORPHA:475
HP:0000366	Abnormality of the nose	403	ARL3	ORPHA:791
HP:0000366	Abnormality of the nose	403	ARL3	OMIM:618161
HP:0000366	Abnormality of the nose	5518	PPP2R1A	OMIM:616362
HP:0000366	Abnormality of the nose	5518	PPP2R1A	ORPHA:457284
HP:0000366	Abnormality of the nose	253738	EBF3	OMIM:617330
HP:0000366	Abnormality of the nose	55768	NGLY1	OMIM:615273
HP:0000366	Abnormality of the nose	8493	PPM1D	OMIM:617450
HP:0000366	Abnormality of the nose	85301	COL27A1	OMIM:615155
HP:0000366	Abnormality of the nose	5792	PTPRF	OMIM:616001
HP:0000366	Abnormality of the nose	51692	CPSF3	OMIM:619876
HP:0000366	Abnormality of the nose	3098	HK1	OMIM:618547
HP:0000366	Abnormality of the nose	79770	TXNDC15	OMIM:619879
HP:0000366	Abnormality of the nose	9091	PIGQ	OMIM:618548
HP:0000366	Abnormality of the nose	9091	PIGQ	ORPHA:1934
HP:0000366	Abnormality of the nose	285362	SUMF1	OMIM:272200
HP:0000366	Abnormality of the nose	285362	SUMF1	ORPHA:585
HP:0000366	Abnormality of the nose	26137	ZBTB20	OMIM:259050
HP:0000366	Abnormality of the nose	8314	BAP1	OMIM:619762
HP:0000366	Abnormality of the nose	8733	GPAA1	ORPHA:529665
HP:0000366	Abnormality of the nose	8733	GPAA1	OMIM:617810
HP:0000366	Abnormality of the nose	253959	RALGAPA1	OMIM:618797
HP:0000366	Abnormality of the nose	53335	BCL11A	OMIM:617101
HP:0000366	Abnormality of the nose	4849	CNOT3	OMIM:618672
HP:0000366	Abnormality of the nose	4285	MIPEP	OMIM:617228
HP:0000366	Abnormality of the nose	9928	KIF14	OMIM:616258
HP:0000366	Abnormality of the nose	79971	WLS	OMIM:619648
HP:0000366	Abnormality of the nose	2271	FH	OMIM:606812
HP:0000366	Abnormality of the nose	5373	PMM2	ORPHA:79318
HP:0000366	Abnormality of the nose	23007	PLCH1	OMIM:619895
HP:0000366	Abnormality of the nose	23162	MAPK8IP3	OMIM:618443
HP:0000366	Abnormality of the nose	54941	RNF125	OMIM:616260
HP:0000366	Abnormality of the nose	79989	IFT56	OMIM:619534
HP:0000366	Abnormality of the nose	6513	SLC2A1	ORPHA:1942
HP:0000366	Abnormality of the nose	8831	SYNGAP1	ORPHA:1942
HP:0000366	Abnormality of the nose	1173	AP2M1	ORPHA:1942
HP:0000366	Abnormality of the nose	6323	SCN1A	ORPHA:1942
HP:0000366	Abnormality of the nose	1106	CHD2	ORPHA:1942
HP:0000366	Abnormality of the nose	6529	SLC6A1	ORPHA:1942
HP:0000366	Abnormality of the nose	9896	FIG4	OMIM:216340
HP:0000366	Abnormality of the nose	9896	FIG4	ORPHA:3472
HP:0000366	Abnormality of the nose	9427	ECEL1	OMIM:615065
HP:0000366	Abnormality of the nose	5587	PRKD1	OMIM:617364
HP:0000366	Abnormality of the nose	9851	KIAA0753	OMIM:617127
HP:0000366	Abnormality of the nose	51013	EXOSC1	OMIM:619304
HP:0000366	Abnormality of the nose	6792	CDKL5	ORPHA:1934
HP:0000366	Abnormality of the nose	6792	CDKL5	OMIM:300672
HP:0000366	Abnormality of the nose	3736	KCNA1	ORPHA:1934
HP:0000366	Abnormality of the nose	2775	GNAO1	ORPHA:1934
HP:0000366	Abnormality of the nose	81603	TRIM8	ORPHA:1934
HP:0000366	Abnormality of the nose	2902	GRIN1	ORPHA:1934
HP:0000366	Abnormality of the nose	79751	SLC25A22	ORPHA:1934
HP:0000366	Abnormality of the nose	150094	SIK1	ORPHA:1934
HP:0000366	Abnormality of the nose	23312	DMXL2	ORPHA:1934
HP:0000366	Abnormality of the nose	2917	GRM7	ORPHA:1934
HP:0000366	Abnormality of the nose	170302	ARX	ORPHA:1934
HP:0000366	Abnormality of the nose	11284	PNKP	ORPHA:1934
HP:0000366	Abnormality of the nose	6326	SCN2A	ORPHA:1934
HP:0000366	Abnormality of the nose	51227	PIGP	ORPHA:1934
HP:0000366	Abnormality of the nose	6324	SCN1B	ORPHA:1934
HP:0000366	Abnormality of the nose	4761	NEUROD2	ORPHA:1934
HP:0000366	Abnormality of the nose	92840	REEP6	ORPHA:791
HP:0000366	Abnormality of the nose	6094	ROM1	ORPHA:791
HP:0000366	Abnormality of the nose	6017	RLBP1	ORPHA:791
HP:0000366	Abnormality of the nose	7401	CLRN1	ORPHA:791
HP:0000366	Abnormality of the nose	24	ABCA4	ORPHA:791
HP:0000366	Abnormality of the nose	130557	ZNF513	ORPHA:791
HP:0000366	Abnormality of the nose	582	BBS1	ORPHA:791
HP:0000366	Abnormality of the nose	92211	CDHR1	ORPHA:791
HP:0000366	Abnormality of the nose	23568	ARL2BP	ORPHA:791
HP:0000366	Abnormality of the nose	6121	RPE65	ORPHA:791
HP:0000366	Abnormality of the nose	6101	RP1	ORPHA:791
HP:0000366	Abnormality of the nose	3419	IDH3A	ORPHA:791
HP:0000366	Abnormality of the nose	4751	NEK2	ORPHA:791
HP:0000366	Abnormality of the nose	346007	EYS	ORPHA:791
HP:0000366	Abnormality of the nose	8100	IFT88	ORPHA:791
HP:0000366	Abnormality of the nose	23020	SNRNP200	ORPHA:791
HP:0000366	Abnormality of the nose	762	CA4	ORPHA:791
HP:0000366	Abnormality of the nose	196	AHR	ORPHA:791
HP:0000366	Abnormality of the nose	3614	IMPDH1	ORPHA:791
HP:0000366	Abnormality of the nose	123016	TTC8	ORPHA:791
HP:0000366	Abnormality of the nose	6103	RPGR	ORPHA:791
HP:0000366	Abnormality of the nose	1406	CRX	ORPHA:791
HP:0000366	Abnormality of the nose	5148	PDE6G	ORPHA:791
HP:0000366	Abnormality of the nose	26160	IFT172	ORPHA:791
HP:0000366	Abnormality of the nose	26121	PRPF31	ORPHA:791
HP:0000366	Abnormality of the nose	583	BBS2	ORPHA:791
HP:0000366	Abnormality of the nose	4117	MAK	ORPHA:791
HP:0000366	Abnormality of the nose	25794	FSCN2	ORPHA:791
HP:0000366	Abnormality of the nose	375298	CERKL	ORPHA:791
HP:0000366	Abnormality of the nose	3420	IDH3B	ORPHA:791
HP:0000366	Abnormality of the nose	57670	KIAA1549	ORPHA:791
HP:0000366	Abnormality of the nose	7275	TUB	ORPHA:791
HP:0000366	Abnormality of the nose	24148	PRPF6	ORPHA:791
HP:0000366	Abnormality of the nose	23418	CRB1	ORPHA:791
HP:0000366	Abnormality of the nose	10461	MERTK	ORPHA:791
HP:0000366	Abnormality of the nose	57709	SLC7A14	ORPHA:791
HP:0000366	Abnormality of the nose	768206	PRCD	ORPHA:791
HP:0000366	Abnormality of the nose	7399	USH2A	ORPHA:791
HP:0000366	Abnormality of the nose	23370	ARHGEF18	ORPHA:791
HP:0000366	Abnormality of the nose	5949	RBP3	ORPHA:791
HP:0000366	Abnormality of the nose	6010	RHO	ORPHA:791
HP:0000366	Abnormality of the nose	6100	RP9	ORPHA:791
HP:0000366	Abnormality of the nose	10002	NR2E3	ORPHA:791
HP:0000366	Abnormality of the nose	9227	LRAT	ORPHA:791
HP:0000366	Abnormality of the nose	84140	FAM161A	ORPHA:791
HP:0000366	Abnormality of the nose	55812	SPATA7	ORPHA:791
HP:0000366	Abnormality of the nose	79797	ZNF408	ORPHA:791
HP:0000366	Abnormality of the nose	5145	PDE6A	ORPHA:791
HP:0000366	Abnormality of the nose	10210	TOPORS	ORPHA:791
HP:0000366	Abnormality of the nose	8842	PROM1	ORPHA:791
HP:0000366	Abnormality of the nose	9128	PRPF4	ORPHA:791
HP:0000366	Abnormality of the nose	145226	RDH12	ORPHA:791
HP:0000366	Abnormality of the nose	50939	IMPG2	ORPHA:791
HP:0000366	Abnormality of the nose	49855	SCAPER	ORPHA:791
HP:0000366	Abnormality of the nose	9742	IFT140	ORPHA:791
HP:0000366	Abnormality of the nose	2979	GUCA1B	ORPHA:791
HP:0000366	Abnormality of the nose	1259	CNGA1	ORPHA:791
HP:0000366	Abnormality of the nose	1258	CNGB1	ORPHA:791
HP:0000366	Abnormality of the nose	60509	AGBL5	ORPHA:791
HP:0000366	Abnormality of the nose	5961	PRPH2	ORPHA:791
HP:0000366	Abnormality of the nose	388939	PCARE	ORPHA:791
HP:0000366	Abnormality of the nose	7439	BEST1	ORPHA:791
HP:0000366	Abnormality of the nose	9785	DHX38	ORPHA:791
HP:0000366	Abnormality of the nose	7287	TULP1	ORPHA:791
HP:0000366	Abnormality of the nose	5995	RGR	ORPHA:791
HP:0000366	Abnormality of the nose	9129	PRPF3	ORPHA:791
HP:0000366	Abnormality of the nose	55975	KLHL7	ORPHA:791
HP:0000366	Abnormality of the nose	3617	IMPG1	ORPHA:791
HP:0000366	Abnormality of the nose	94137	RP1L1	ORPHA:791
HP:0000366	Abnormality of the nose	5158	PDE6B	ORPHA:791
HP:0000366	Abnormality of the nose	6102	RP2	ORPHA:791
HP:0000366	Abnormality of the nose	55857	KIZ	ORPHA:791
HP:0000366	Abnormality of the nose	64218	SEMA4A	ORPHA:791
HP:0000366	Abnormality of the nose	4901	NRL	ORPHA:791
HP:0000366	Abnormality of the nose	157657	CFAP418	ORPHA:791
HP:0000366	Abnormality of the nose	10594	PRPF8	ORPHA:791
HP:0000366	Abnormality of the nose	84100	ARL6	ORPHA:791
HP:0000366	Abnormality of the nose	6295	SAG	ORPHA:791
HP:0000366	Abnormality of the nose	79947	DHDDS	ORPHA:791
HP:0000366	Abnormality of the nose	5898	RALA	OMIM:619311
HP:0000366	Abnormality of the nose	23013	SPEN	OMIM:619312
HP:0000366	Abnormality of the nose	54517	PUS7	OMIM:618342
HP:0000366	Abnormality of the nose	10785	WDR4	OMIM:618347
HP:0000366	Abnormality of the nose	2972	BRF1	ORPHA:444072
HP:0000366	Abnormality of the nose	29998	BICRA	OMIM:619325
HP:0000366	Abnormality of the nose	388015	RTL1	ORPHA:254528
HP:0000366	Abnormality of the nose	388015	RTL1	ORPHA:96184
HP:0000366	Abnormality of the nose	388015	RTL1	ORPHA:96334
HP:0000366	Abnormality of the nose	8788	DLK1	ORPHA:254528
HP:0000366	Abnormality of the nose	8788	DLK1	ORPHA:96184
HP:0000366	Abnormality of the nose	8788	DLK1	ORPHA:96334
HP:0000366	Abnormality of the nose	55384	MEG3	ORPHA:254528
HP:0000366	Abnormality of the nose	55384	MEG3	ORPHA:96184
HP:0000366	Abnormality of the nose	55384	MEG3	ORPHA:96334
HP:0000366	Abnormality of the nose	57520	HECW2	OMIM:617268
HP:0000366	Abnormality of the nose	23030	KDM4B	OMIM:619320
HP:0000366	Abnormality of the nose	6492	SIM1	ORPHA:171829
HP:0000366	Abnormality of the nose	4081	MAB21L1	OMIM:618479
HP:0000366	Abnormality of the nose	79068	FTO	OMIM:612938
HP:0000366	Abnormality of the nose	473	RERE	ORPHA:494344
HP:0000366	Abnormality of the nose	473	RERE	OMIM:616975
HP:0000366	Abnormality of the nose	23221	RHOBTB2	OMIM:618004
HP:0000366	Abnormality of the nose	92255	LMBRD2	OMIM:619694
HP:0000366	Abnormality of the nose	7965	AIMP2	OMIM:618006
HP:0000366	Abnormality of the nose	80311	KLHL15	OMIM:300982
HP:0000366	Abnormality of the nose	6045	RNF2	OMIM:619460
HP:0000366	Abnormality of the nose	1781	DYNC1I2	OMIM:618492
HP:0000366	Abnormality of the nose	774	CACNA1B	OMIM:618497
HP:0000366	Abnormality of the nose	5277	PIGA	OMIM:300868
HP:0000366	Abnormality of the nose	4613	MYCN	OMIM:164280
HP:0000366	Abnormality of the nose	9244	CRLF1	OMIM:272430
HP:0000366	Abnormality of the nose	9244	CRLF1	ORPHA:1545
HP:0000366	Abnormality of the nose	6611	SMS	ORPHA:3063
HP:0000366	Abnormality of the nose	6611	SMS	OMIM:309583
HP:0000366	Abnormality of the nose	80036	TRPM3	OMIM:620224
HP:0000366	Abnormality of the nose	526	ATP6V1B2	ORPHA:79500
HP:0000366	Abnormality of the nose	207	AKT1	ORPHA:744
HP:0000366	Abnormality of the nose	23405	DICER1	OMIM:618272
HP:0000366	Abnormality of the nose	1457	CSNK2A1	OMIM:617062
HP:0000366	Abnormality of the nose	2077	ERF	OMIM:617180
HP:0000366	Abnormality of the nose	2571	GAD1	OMIM:619124
HP:0000366	Abnormality of the nose	285590	SH3PXD2B	OMIM:249420
HP:0000366	Abnormality of the nose	29123	ANKRD11	ORPHA:261250
HP:0000366	Abnormality of the nose	29123	ANKRD11	OMIM:148050
HP:0000366	Abnormality of the nose	29123	ANKRD11	ORPHA:2332
HP:0000366	Abnormality of the nose	10220	GDF11	OMIM:619122
HP:0000366	Abnormality of the nose	9508	ADAMTS3	OMIM:618154
HP:0000366	Abnormality of the nose	1654	DDX3X	OMIM:300958
HP:0000366	Abnormality of the nose	9759	HDAC4	OMIM:600430
HP:0000366	Abnormality of the nose	9759	HDAC4	ORPHA:1001
HP:0000366	Abnormality of the nose	57020	VPS35L	OMIM:619135
HP:0000366	Abnormality of the nose	4781	NFIB	OMIM:618286
HP:0000366	Abnormality of the nose	3643	INSR	ORPHA:769
HP:0000366	Abnormality of the nose	84081	NSRP1	OMIM:620001
HP:0000366	Abnormality of the nose	1795	DOCK3	OMIM:618292
HP:0000366	Abnormality of the nose	84842	HPDL	OMIM:619026
HP:0000366	Abnormality of the nose	10128	LRPPRC	OMIM:220111
HP:0000366	Abnormality of the nose	9131	AIFM1	OMIM:300232
HP:0000366	Abnormality of the nose	9131	AIFM1	ORPHA:83629
HP:0000366	Abnormality of the nose	80232	WDR26	ORPHA:513456
HP:0000366	Abnormality of the nose	80232	WDR26	OMIM:617616
HP:0000366	Abnormality of the nose	8443	GNPAT	OMIM:222765
HP:0000366	Abnormality of the nose	51506	UFC1	OMIM:618076
HP:0000366	Abnormality of the nose	9442	MED27	OMIM:619286
HP:0000366	Abnormality of the nose	1717	DHCR7	ORPHA:818
HP:0000366	Abnormality of the nose	1717	DHCR7	OMIM:270400
HP:0000366	Abnormality of the nose	9382	COG1	OMIM:611209
HP:0000366	Abnormality of the nose	56992	KIF15	ORPHA:261323
HP:0000366	Abnormality of the nose	64324	NSD1	OMIM:117550
HP:0000366	Abnormality of the nose	9739	SETD1A	OMIM:619056
HP:0000366	Abnormality of the nose	5119	CHMP1A	OMIM:614961
HP:0000366	Abnormality of the nose	93627	TBCK	OMIM:616900
HP:0000366	Abnormality of the nose	55697	VAC14	ORPHA:3472
HP:0000366	Abnormality of the nose	26053	AUTS2	ORPHA:352490
HP:0000366	Abnormality of the nose	26053	AUTS2	OMIM:615834
HP:0000366	Abnormality of the nose	23036	ZNF292	OMIM:619188
HP:0000366	Abnormality of the nose	6885	MAP3K7	OMIM:157800
HP:0000366	Abnormality of the nose	1954	MEGF8	OMIM:614976
HP:0000366	Abnormality of the nose	124512	METTL23	OMIM:615942
HP:0000366	Abnormality of the nose	3425	IDUA	OMIM:607014
HP:0000366	Abnormality of the nose	3425	IDUA	ORPHA:93473
HP:0000366	Abnormality of the nose	56006	SMG9	OMIM:616920
HP:0000366	Abnormality of the nose	285175	UNC80	OMIM:616801
HP:0000366	Abnormality of the nose	285175	UNC80	ORPHA:371364
HP:0000366	Abnormality of the nose	11128	POLR3A	OMIM:264090
HP:0000366	Abnormality of the nose	11128	POLR3A	ORPHA:3455
HP:0000366	Abnormality of the nose	55165	CEP55	OMIM:236500
HP:0000366	Abnormality of the nose	84992	PIGY	OMIM:616809
HP:0000366	Abnormality of the nose	5594	MAPK1	OMIM:619087
HP:0000366	Abnormality of the nose	471	ATIC	OMIM:608688
HP:0000366	Abnormality of the nose	55691	FRMD4A	OMIM:616819
HP:0000366	Abnormality of the nose	55691	FRMD4A	ORPHA:466688
HP:0000366	Abnormality of the nose	63895	PIEZO2	OMIM:248700
HP:0000366	Abnormality of the nose	55670	PEX26	ORPHA:44
HP:0000366	Abnormality of the nose	5824	PEX19	ORPHA:44
HP:0000366	Abnormality of the nose	5828	PEX2	ORPHA:44
HP:0000366	Abnormality of the nose	8504	PEX3	ORPHA:44
HP:0000366	Abnormality of the nose	9409	PEX16	ORPHA:44
HP:0000366	Abnormality of the nose	8799	PEX11B	ORPHA:44
HP:0000366	Abnormality of the nose	5193	PEX12	ORPHA:44
HP:0000366	Abnormality of the nose	5194	PEX13	ORPHA:44
HP:0000366	Abnormality of the nose	5194	PEX13	OMIM:614883
HP:0000366	Abnormality of the nose	5195	PEX14	ORPHA:44
HP:0000366	Abnormality of the nose	5192	PEX10	ORPHA:44
HP:0000366	Abnormality of the nose	9652	SKIC3	OMIM:222470
HP:0000366	Abnormality of the nose	79791	FBXO31	OMIM:615979
HP:0000366	Abnormality of the nose	85440	DOCK7	OMIM:615859
HP:0000366	Abnormality of the nose	85440	DOCK7	ORPHA:411986
HP:0000366	Abnormality of the nose	117581	TWIST2	ORPHA:920
HP:0000366	Abnormality of the nose	117581	TWIST2	ORPHA:1231
HP:0000366	Abnormality of the nose	117581	TWIST2	OMIM:209885
HP:0000366	Abnormality of the nose	2702	GJA5	OMIM:612474
HP:0000366	Abnormality of the nose	2703	GJA8	OMIM:612474
HP:0000366	Abnormality of the nose	867	CBL	OMIM:613563
HP:0000366	Abnormality of the nose	6497	SKI	ORPHA:2462
HP:0000366	Abnormality of the nose	6497	SKI	OMIM:182212
HP:0000366	Abnormality of the nose	55906	ZC4H2	OMIM:301041
HP:0000366	Abnormality of the nose	55906	ZC4H2	OMIM:314580
HP:0000366	Abnormality of the nose	100151683	RNU4ATAC	OMIM:210710
HP:0000366	Abnormality of the nose	100151683	RNU4ATAC	OMIM:616651
HP:0000366	Abnormality of the nose	1788	DNMT3A	OMIM:615879
HP:0000366	Abnormality of the nose	23028	KDM1A	OMIM:616728
HP:0000366	Abnormality of the nose	23028	KDM1A	ORPHA:477993
HP:0000366	Abnormality of the nose	5160	PDHA1	OMIM:312170
HP:0000366	Abnormality of the nose	3097	HIVEP2	OMIM:616977
HP:0000366	Abnormality of the nose	5339	PLEC	OMIM:612138
HP:0000366	Abnormality of the nose	5053	PAH	ORPHA:2209
HP:0000366	Abnormality of the nose	10265	IRX5	OMIM:611174
HP:0000366	Abnormality of the nose	134701	RIPPLY2	ORPHA:2311
HP:0000366	Abnormality of the nose	10683	DLL3	ORPHA:2311
HP:0000366	Abnormality of the nose	3955	LFNG	ORPHA:2311
HP:0000366	Abnormality of the nose	84667	HES7	ORPHA:2311
HP:0000366	Abnormality of the nose	145873	MESP2	ORPHA:2311
HP:0000366	Abnormality of the nose	91137	SLC25A46	OMIM:616505
HP:0000366	Abnormality of the nose	57211	ADGRG6	OMIM:616503
HP:0000366	Abnormality of the nose	2248	FGF3	ORPHA:2791
HP:0000366	Abnormality of the nose	2138	EYA1	ORPHA:2792
HP:0000366	Abnormality of the nose	5075	PAX1	ORPHA:2792
HP:0000366	Abnormality of the nose	79583	TMEM231	ORPHA:2318
HP:0000366	Abnormality of the nose	51524	TMEM138	ORPHA:2318
HP:0000366	Abnormality of the nose	23090	ZNF423	ORPHA:2318
HP:0000366	Abnormality of the nose	80184	CEP290	ORPHA:2318
HP:0000366	Abnormality of the nose	51259	TMEM216	ORPHA:2318
HP:0000366	Abnormality of the nose	57545	CC2D2A	ORPHA:2318
HP:0000366	Abnormality of the nose	57545	CC2D2A	ORPHA:1454
HP:0000366	Abnormality of the nose	10943	MSL3	OMIM:301032
HP:0000366	Abnormality of the nose	9419	CRIPT	OMIM:615789
HP:0000366	Abnormality of the nose	10367	MICU1	OMIM:615673
HP:0000366	Abnormality of the nose	1861	TOR1A	OMIM:618947
HP:0000366	Abnormality of the nose	5293	PIK3CD	ORPHA:221139
HP:0000366	Abnormality of the nose	90417	KNSTRN	ORPHA:221139
HP:0000366	Abnormality of the nose	6925	TCF4	ORPHA:2896
HP:0000366	Abnormality of the nose	23630	KCNE5	ORPHA:86818
HP:0000366	Abnormality of the nose	2182	ACSL4	ORPHA:86818
HP:0000366	Abnormality of the nose	9949	AMMECR1	ORPHA:86818
HP:0000366	Abnormality of the nose	284252	KCTD1	OMIM:181270
HP:0000366	Abnormality of the nose	51124	IER3IP1	OMIM:614231
HP:0000366	Abnormality of the nose	6911	TBX6	ORPHA:1797
HP:0000366	Abnormality of the nose	3832	KIF11	ORPHA:2526
HP:0000366	Abnormality of the nose	3832	KIF11	OMIM:152950
HP:0000366	Abnormality of the nose	100506658	OCLN	OMIM:251290
HP:0000366	Abnormality of the nose	3756	KCNH1	ORPHA:420561
HP:0000366	Abnormality of the nose	5879	RAC1	OMIM:617751
HP:0000366	Abnormality of the nose	5879	RAC1	ORPHA:500159
HP:0000366	Abnormality of the nose	26503	SLC17A5	OMIM:269920
HP:0000366	Abnormality of the nose	738	VPS51	OMIM:618606
HP:0000366	Abnormality of the nose	85378	TUBGCP6	ORPHA:2518
HP:0000366	Abnormality of the nose	27229	TUBGCP4	ORPHA:2518
HP:0000366	Abnormality of the nose	10733	PLK4	ORPHA:2518
HP:0000366	Abnormality of the nose	9939	RBM8A	OMIM:274000
HP:0000366	Abnormality of the nose	4848	CNOT2	OMIM:618608
HP:0000366	Abnormality of the nose	64131	XYLT1	ORPHA:1425
HP:0000366	Abnormality of the nose	23529	CLCF1	ORPHA:1545
HP:0000366	Abnormality of the nose	4204	MECP2	OMIM:300260
HP:0000366	Abnormality of the nose	57647	DHX37	OMIM:618731
HP:0000366	Abnormality of the nose	23404	EXOSC2	OMIM:617763
HP:0000366	Abnormality of the nose	672	BRCA1	OMIM:617883
HP:0000366	Abnormality of the nose	5087	PBX1	OMIM:617641
HP:0000366	Abnormality of the nose	4858	NOVA2	OMIM:618859
HP:0000366	Abnormality of the nose	4281	MID1	OMIM:300000
HP:0000366	Abnormality of the nose	57167	SALL4	OMIM:607323
HP:0000366	Abnormality of the nose	8626	TP63	OMIM:604292
HP:0000366	Abnormality of the nose	2778	GNAS	ORPHA:562
HP:0000366	Abnormality of the nose	5294	PIK3CG	OMIM:619802
HP:0000366	Abnormality of the nose	1644	DDC	OMIM:608643
HP:0000366	Abnormality of the nose	4123	MAN2C1	OMIM:619775
HP:0000366	Abnormality of the nose	79005	SCNM1	OMIM:620107
HP:0000366	Abnormality of the nose	1063	CENPF	OMIM:243605
HP:0000366	Abnormality of the nose	71	ACTG1	ORPHA:2995
HP:0000366	Abnormality of the nose	7403	KDM6A	OMIM:300867
HP:0000366	Abnormality of the nose	7403	KDM6A	ORPHA:2322
HP:0000366	Abnormality of the nose	8085	KMT2D	ORPHA:2322
HP:0000366	Abnormality of the nose	7291	TWIST1	OMIM:617746
HP:0000366	Abnormality of the nose	55623	THUMPD1	OMIM:619989
HP:0000366	Abnormality of the nose	374407	DNAJB13	OMIM:617091
HP:0000366	Abnormality of the nose	374407	DNAJB13	ORPHA:244
HP:0000366	Abnormality of the nose	83538	ODAD4	OMIM:617092
HP:0000366	Abnormality of the nose	83538	ODAD4	ORPHA:244
HP:0000366	Abnormality of the nose	1770	DNAH9	OMIM:618300
HP:0000366	Abnormality of the nose	1770	DNAH9	ORPHA:244
HP:0000366	Abnormality of the nose	83861	RSPH3	OMIM:616481
HP:0000366	Abnormality of the nose	83861	RSPH3	ORPHA:244
HP:0000366	Abnormality of the nose	55130	ODAD2	OMIM:615451
HP:0000366	Abnormality of the nose	55130	ODAD2	ORPHA:244
HP:0000366	Abnormality of the nose	25981	DNAH1	OMIM:617577
HP:0000366	Abnormality of the nose	25981	DNAH1	ORPHA:244
HP:0000366	Abnormality of the nose	2622	GAS8	OMIM:616726
HP:0000366	Abnormality of the nose	2622	GAS8	ORPHA:244
HP:0000366	Abnormality of the nose	64446	DNAI2	OMIM:612444
HP:0000366	Abnormality of the nose	64446	DNAI2	ORPHA:244
HP:0000366	Abnormality of the nose	54970	TTC12	OMIM:618801
HP:0000366	Abnormality of the nose	54970	TTC12	ORPHA:244
HP:0000366	Abnormality of the nose	345895	RSPH4A	OMIM:612649
HP:0000366	Abnormality of the nose	345895	RSPH4A	ORPHA:244
HP:0000366	Abnormality of the nose	10312	TCIRG1	ORPHA:667
HP:0000366	Abnormality of the nose	1186	CLCN7	ORPHA:667
HP:0000366	Abnormality of the nose	29887	SNX10	ORPHA:667
HP:0000366	Abnormality of the nose	8600	TNFSF11	ORPHA:667
HP:0000366	Abnormality of the nose	115948	ODAD3	ORPHA:244
HP:0000366	Abnormality of the nose	54768	HYDIN	ORPHA:244
HP:0000366	Abnormality of the nose	54768	HYDIN	OMIM:608647
HP:0000366	Abnormality of the nose	352909	DNAAF3	ORPHA:244
HP:0000366	Abnormality of the nose	27148	STK36	ORPHA:244
HP:0000366	Abnormality of the nose	51314	NME8	ORPHA:244
HP:0000366	Abnormality of the nose	92749	DRC1	ORPHA:244
HP:0000366	Abnormality of the nose	152110	NEK10	ORPHA:244
HP:0000366	Abnormality of the nose	221421	RSPH9	ORPHA:244
HP:0000366	Abnormality of the nose	221421	RSPH9	OMIM:612650
HP:0000366	Abnormality of the nose	85478	CCDC65	ORPHA:244
HP:0000366	Abnormality of the nose	55036	CCDC40	ORPHA:244
HP:0000366	Abnormality of the nose	51364	ZMYND10	ORPHA:244
HP:0000366	Abnormality of the nose	6674	SPAG1	ORPHA:244
HP:0000366	Abnormality of the nose	83544	DNAL1	ORPHA:244
HP:0000366	Abnormality of the nose	83544	DNAL1	OMIM:614017
HP:0000366	Abnormality of the nose	89765	RSPH1	ORPHA:244
HP:0000366	Abnormality of the nose	89765	RSPH1	OMIM:615481
HP:0000366	Abnormality of the nose	200373	CFAP221	ORPHA:244
HP:0000366	Abnormality of the nose	55172	DNAAF2	ORPHA:244
HP:0000366	Abnormality of the nose	161582	DNAAF4	ORPHA:244
HP:0000366	Abnormality of the nose	161582	DNAAF4	OMIM:615482
HP:0000366	Abnormality of the nose	23639	DNAAF11	ORPHA:244
HP:0000366	Abnormality of the nose	54919	DNAAF5	ORPHA:244
HP:0000366	Abnormality of the nose	388389	CCDC103	ORPHA:244
HP:0000366	Abnormality of the nose	388389	CCDC103	OMIM:614679
HP:0000366	Abnormality of the nose	93233	ODAD1	ORPHA:244
HP:0000366	Abnormality of the nose	1767	DNAH5	ORPHA:244
HP:0000366	Abnormality of the nose	345643	MCIDAS	ORPHA:244
HP:0000366	Abnormality of the nose	345643	MCIDAS	OMIM:618695
HP:0000366	Abnormality of the nose	56683	CFAP298	ORPHA:244
HP:0000366	Abnormality of the nose	79925	SPEF2	ORPHA:244
HP:0000366	Abnormality of the nose	10309	CCNO	ORPHA:244
HP:0000366	Abnormality of the nose	115399	LRRC56	ORPHA:244
HP:0000366	Abnormality of the nose	139212	DNAAF6	ORPHA:244
HP:0000366	Abnormality of the nose	123872	DNAAF1	ORPHA:244
HP:0000366	Abnormality of the nose	85016	CFAP300	ORPHA:244
HP:0000366	Abnormality of the nose	339829	CCDC39	ORPHA:244
HP:0000366	Abnormality of the nose	8701	DNAH11	ORPHA:244
HP:0000366	Abnormality of the nose	8701	DNAH11	OMIM:611884
HP:0000366	Abnormality of the nose	246176	GAS2L2	ORPHA:244
HP:0000366	Abnormality of the nose	22861	NLRP1	OMIM:615225
HP:0000366	Abnormality of the nose	100	ADA	ORPHA:277
HP:0000366	Abnormality of the nose	83483	PLVAP	OMIM:618183
HP:0000366	Abnormality of the nose	6448	SGSH	OMIM:252900
HP:0000366	Abnormality of the nose	4860	PNP	OMIM:613179
HP:0000366	Abnormality of the nose	3932	LCK	OMIM:615758
HP:0000366	Abnormality of the nose	9094	UNC119	OMIM:615518
HP:0000366	Abnormality of the nose	411	ARSB	OMIM:253200
HP:0000366	Abnormality of the nose	114803	MYSM1	ORPHA:508542
HP:0000366	Abnormality of the nose	3718	JAK3	OMIM:600802
HP:0000366	Abnormality of the nose	6809	STX3	OMIM:619446
HP:0000366	Abnormality of the nose	11151	CORO1A	OMIM:615401
HP:0000366	Abnormality of the nose	6813	STXBP2	OMIM:613101
HP:0000366	Abnormality of the nose	57465	TBC1D24	ORPHA:352596
HP:0000366	Abnormality of the nose	10525	HYOU1	OMIM:233600
HP:0000366	Abnormality of the nose	3952	LEP	ORPHA:66628
HP:0000366	Abnormality of the nose	3952	LEP	OMIM:614962
HP:0000366	Abnormality of the nose	6662	SOX9	OMIM:114290
HP:0000366	Abnormality of the nose	427	ASAH1	ORPHA:333
HP:0000366	Abnormality of the nose	25839	COG4	ORPHA:263501
HP:0000366	Abnormality of the nose	1493	CTLA4	OMIM:616100
HP:0000366	Abnormality of the nose	7852	CXCR4	OMIM:193670
HP:0000366	Abnormality of the nose	7852	CXCR4	ORPHA:51636
HP:0000366	Abnormality of the nose	92579	G6PC3	OMIM:612541
HP:0000366	Abnormality of the nose	5426	POLE	OMIM:615139
HP:0000366	Abnormality of the nose	3953	LEPR	OMIM:614963
HP:0000366	Abnormality of the nose	3953	LEPR	ORPHA:179494
HP:0000366	Abnormality of the nose	8456	FOXN1	OMIM:618806
HP:0000366	Abnormality of the nose	2720	GLB1	OMIM:253010
HP:0000366	Abnormality of the nose	7840	ALMS1	ORPHA:64
HP:0000366	Abnormality of the nose	6772	STAT1	ORPHA:391487
HP:0000366	Abnormality of the nose	10043	TOM1	ORPHA:391487
HP:0000366	Abnormality of the nose	7454	WAS	OMIM:301000
HP:0000366	Abnormality of the nose	3572	IL6ST	OMIM:619752
HP:0000366	Abnormality of the nose	3852	KRT5	OMIM:619599
HP:0000366	Abnormality of the nose	2033	EP300	OMIM:180849
HP:0000366	Abnormality of the nose	2033	EP300	OMIM:618333
HP:0000366	Abnormality of the nose	4261	CIITA	OMIM:209920
HP:0000366	Abnormality of the nose	5994	RFXAP	OMIM:209920
HP:0000366	Abnormality of the nose	5993	RFX5	OMIM:209920
HP:0000366	Abnormality of the nose	8625	RFXANK	OMIM:209920
HP:0000366	Abnormality of the nose	2588	GALNS	OMIM:253000
HP:0000366	Abnormality of the nose	6774	STAT3	OMIM:615952
HP:0000366	Abnormality of the nose	5295	PIK3R1	OMIM:616005
HP:0000366	Abnormality of the nose	5580	PRKCD	OMIM:615559
HP:0000366	Abnormality of the nose	920	CD4	OMIM:619238
HP:0000366	Abnormality of the nose	3570	IL6R	OMIM:618944
HP:0000366	Abnormality of the nose	54440	SASH3	OMIM:301082
HP:0000366	Abnormality of the nose	3575	IL7R	ORPHA:169154
HP:0000366	Abnormality of the nose	51360	MBTPS2	OMIM:308205
HP:0000366	Abnormality of the nose	8481	OFD1	OMIM:300209
HP:0000366	Abnormality of the nose	5971	RELB	OMIM:617585
HP:0000366	Abnormality of the nose	79803	HPS6	OMIM:614075
HP:0000366	Abnormality of the nose	641	BLM	OMIM:210900
HP:0000366	Abnormality of the nose	5340	PLG	OMIM:217090
HP:0000366	Abnormality of the nose	2799	GNS	OMIM:252940
HP:0000366	Abnormality of the nose	8242	KDM5C	OMIM:300534
HP:0000366	Abnormality of the nose	23247	KATNIP	OMIM:616784
HP:0000366	Abnormality of the nose	2990	GUSB	OMIM:253220
HP:0000366	Abnormality of the nose	138050	HGSNAT	OMIM:252930
HP:0000366	Abnormality of the nose	64421	DCLRE1C	OMIM:602450
HP:0000366	Abnormality of the nose	2542	SLC37A4	OMIM:232240
HP:0000366	Abnormality of the nose	2302	FOXJ1	OMIM:618699
HP:0000366	Abnormality of the nose	7388	UQCRH	OMIM:620137
HP:0000366	Abnormality of the nose	9138	ARHGEF1	OMIM:618459
HP:0000366	Abnormality of the nose	5696	PSMB8	OMIM:256040
HP:0000366	Abnormality of the nose	4669	NAGLU	OMIM:252920
HP:0000366	Abnormality of the nose	54808	DYM	ORPHA:239
HP:0000366	Abnormality of the nose	3588	IL10RB	OMIM:612567
HP:0000366	Abnormality of the nose	3561	IL2RG	OMIM:312863
HP:0000366	Abnormality of the nose	974	CD79B	OMIM:612692
HP:0000366	Abnormality of the nose	472	ATM	OMIM:208900
HP:0000366	Abnormality of the nose	973	CD79A	OMIM:613501
HP:0000366	Abnormality of the nose	8742	TNFSF12	ORPHA:1572
HP:0000366	Abnormality of the nose	931	MS4A1	ORPHA:1572
HP:0000366	Abnormality of the nose	975	CD81	ORPHA:1572
HP:0000366	Abnormality of the nose	6901	TAFAZZIN	OMIM:302060
HP:0000366	Abnormality of the nose	54345	SOX18	OMIM:137940
HP:0000366	Abnormality of the nose	94005	PIGS	OMIM:618143
HP:0000366	Abnormality of the nose	4683	NBN	OMIM:251260
HP:0000366	Abnormality of the nose	9241	NOG	OMIM:184460
HP:0000366	Abnormality of the nose	79228	THOC6	ORPHA:363444
HP:0000366	Abnormality of the nose	79228	THOC6	OMIM:613680
HP:0000366	Abnormality of the nose	8905	AP1S2	ORPHA:85329
HP:0000366	Abnormality of the nose	4983	OPHN1	OMIM:300486
HP:0000366	Abnormality of the nose	10472	ZBTB18	OMIM:612337
HP:0000366	Abnormality of the nose	23431	AP4E1	OMIM:613744
HP:0000366	Abnormality of the nose	118924	FRA10AC1	OMIM:620113
HP:0000366	Abnormality of the nose	2556	GABRA3	OMIM:301091
HP:0000366	Abnormality of the nose	23522	KAT6B	ORPHA:3047
HP:0000366	Abnormality of the nose	222663	SCUBE3	OMIM:619184
HP:0000366	Abnormality of the nose	64840	PORCN	OMIM:305600
HP:0000366	Abnormality of the nose	341640	FREM2	ORPHA:2052
HP:0000366	Abnormality of the nose	80144	FRAS1	ORPHA:2052
HP:0000366	Abnormality of the nose	80144	FRAS1	OMIM:219000
HP:0000366	Abnormality of the nose	23426	GRIP1	ORPHA:2052
HP:0000366	Abnormality of the nose	60529	ALX4	OMIM:613451
HP:0000366	Abnormality of the nose	10999	SLC27A4	OMIM:608649
HP:0000366	Abnormality of the nose	1369	CPN1	OMIM:212070
HP:0000366	Abnormality of the nose	23387	SIK3	OMIM:618162
HP:0000366	Abnormality of the nose	7941	PLA2G7	OMIM:147050
HP:0000366	Abnormality of the nose	50615	IL21R	OMIM:147050
HP:0000366	Abnormality of the nose	3566	IL4R	OMIM:147050
HP:0000366	Abnormality of the nose	2206	MS4A2	OMIM:147050
HP:0000366	Abnormality of the nose	146206	CARMIL2	OMIM:618131
HP:0000366	Abnormality of the nose	11005	SPINK5	OMIM:256500
HP:0000366	Abnormality of the nose	1041	CDSN	ORPHA:90368
HP:0000366	Abnormality of the nose	121391	KRT74	ORPHA:90368
HP:0000366	Abnormality of the nose	5238	PGM3	ORPHA:443811
HP:0000366	Abnormality of the nose	5238	PGM3	OMIM:615816
HP:0000366	Abnormality of the nose	5336	PLCG2	OMIM:614468
HP:0000366	Abnormality of the nose	84701	COX4I2	OMIM:612714
HP:0000366	Abnormality of the nose	3514	IGKC	ORPHA:183675
HP:0000366	Abnormality of the nose	3501	IGHG2	ORPHA:183675
HP:0000366	Abnormality of the nose	2261	FGFR3	ORPHA:15
HP:0000366	Abnormality of the nose	7025	NR2F1	ORPHA:401777
HP:0000366	Abnormality of the nose	55624	POMGNT1	OMIM:253280
HP:0000366	Abnormality of the nose	4854	NOTCH3	OMIM:130720
HP:0000366	Abnormality of the nose	55503	TRPV6	OMIM:618188
HP:0000366	Abnormality of the nose	2137	EXTL3	ORPHA:508533
HP:0000366	Abnormality of the nose	1718	DHCR24	OMIM:602398
HP:0000366	Abnormality of the nose	1718	DHCR24	ORPHA:35107
HP:0000366	Abnormality of the nose	10617	STAMBP	OMIM:614261
HP:0000366	Abnormality of the nose	340533	NEXMIF	OMIM:300912
HP:0000366	Abnormality of the nose	340533	NEXMIF	ORPHA:85277
HP:0000366	Abnormality of the nose	5728	PTEN	OMIM:605309
HP:0000366	Abnormality of the nose	5728	PTEN	ORPHA:109
HP:0000366	Abnormality of the nose	6659	SOX4	OMIM:618506
HP:0000366	Abnormality of the nose	6659	SOX4	ORPHA:1465
HP:0000366	Abnormality of the nose	4897	NRCAM	OMIM:619833
HP:0000366	Abnormality of the nose	5077	PAX3	ORPHA:1529
HP:0000366	Abnormality of the nose	5077	PAX3	ORPHA:894
HP:0000366	Abnormality of the nose	5077	PAX3	OMIM:122880
HP:0000366	Abnormality of the nose	80816	ASXL3	OMIM:615485
HP:0000366	Abnormality of the nose	1855	DVL1	OMIM:616331
HP:0000366	Abnormality of the nose	1855	DVL1	OMIM:180700
HP:0000366	Abnormality of the nose	1855	DVL1	ORPHA:3107
HP:0000366	Abnormality of the nose	5184	PEPD	OMIM:170100
HP:0000366	Abnormality of the nose	129563	DIS3L2	ORPHA:2849
HP:0000366	Abnormality of the nose	28960	DCPS	OMIM:616459
HP:0000366	Abnormality of the nose	23384	SPECC1L	ORPHA:1519
HP:0000366	Abnormality of the nose	23384	SPECC1L	OMIM:145420
HP:0000366	Abnormality of the nose	55650	PIGV	OMIM:239300
HP:0000366	Abnormality of the nose	2260	FGFR1	ORPHA:280200
HP:0000366	Abnormality of the nose	2260	FGFR1	OMIM:166250
HP:0000366	Abnormality of the nose	2260	FGFR1	OMIM:190440
HP:0000366	Abnormality of the nose	2260	FGFR1	OMIM:101600
HP:0000366	Abnormality of the nose	2260	FGFR1	ORPHA:93258
HP:0000366	Abnormality of the nose	28514	DLL1	ORPHA:280200
HP:0000366	Abnormality of the nose	2253	FGF8	ORPHA:280200
HP:0000366	Abnormality of the nose	6496	SIX3	ORPHA:280200
HP:0000366	Abnormality of the nose	7050	TGIF1	ORPHA:280200
HP:0000366	Abnormality of the nose	4838	NODAL	ORPHA:280200
HP:0000366	Abnormality of the nose	6469	SHH	ORPHA:280200
HP:0000366	Abnormality of the nose	51684	SUFU	ORPHA:280200
HP:0000366	Abnormality of the nose	7546	ZIC2	ORPHA:280200
HP:0000366	Abnormality of the nose	2619	GAS1	ORPHA:280200
HP:0000366	Abnormality of the nose	84976	DISP1	ORPHA:280200
HP:0000366	Abnormality of the nose	2736	GLI2	ORPHA:280200
HP:0000366	Abnormality of the nose	8928	FOXH1	ORPHA:280200
HP:0000366	Abnormality of the nose	5727	PTCH1	ORPHA:280200
HP:0000366	Abnormality of the nose	5727	PTCH1	OMIM:610828
HP:0000366	Abnormality of the nose	5727	PTCH1	ORPHA:77301
HP:0000366	Abnormality of the nose	50937	CDON	ORPHA:280200
HP:0000366	Abnormality of the nose	65082	VPS33A	ORPHA:505248
HP:0000366	Abnormality of the nose	1896	EDA	OMIM:305100
HP:0000366	Abnormality of the nose	3190	HNRNPK	OMIM:616580
HP:0000366	Abnormality of the nose	113189	CHST14	ORPHA:2953
HP:0000366	Abnormality of the nose	113189	CHST14	OMIM:601776
HP:0000366	Abnormality of the nose	29940	DSE	ORPHA:2953
HP:0000366	Abnormality of the nose	29940	DSE	OMIM:615539
HP:0000366	Abnormality of the nose	10606	PAICS	OMIM:619859
HP:0000366	Abnormality of the nose	64359	NXN	OMIM:618529
HP:0000366	Abnormality of the nose	64359	NXN	ORPHA:1507
HP:0000366	Abnormality of the nose	9326	ZNHIT3	ORPHA:2836
HP:0000366	Abnormality of the nose	9326	ZNHIT3	OMIM:260565
HP:0000366	Abnormality of the nose	547	KIF1A	ORPHA:2836
HP:0000366	Abnormality of the nose	2770	GNAI1	OMIM:619854
HP:0000366	Abnormality of the nose	1009	CDH11	OMIM:619736
HP:0000366	Abnormality of the nose	4920	ROR2	ORPHA:1507
HP:0000366	Abnormality of the nose	4920	ROR2	OMIM:268310
HP:0000366	Abnormality of the nose	2697	GJA1	ORPHA:2710
HP:0000366	Abnormality of the nose	2697	GJA1	OMIM:164200
HP:0000366	Abnormality of the nose	2626	GATA4	ORPHA:251071
HP:0000366	Abnormality of the nose	857	CAV1	OMIM:606721
HP:0000366	Abnormality of the nose	4330	MN1	OMIM:618774
HP:0000366	Abnormality of the nose	4297	KMT2A	ORPHA:319182
HP:0000366	Abnormality of the nose	1301	COL11A1	OMIM:228520
HP:0000366	Abnormality of the nose	1301	COL11A1	ORPHA:560
HP:0000366	Abnormality of the nose	1301	COL11A1	OMIM:154780
HP:0000366	Abnormality of the nose	23327	NEDD4L	OMIM:617201
HP:0000366	Abnormality of the nose	2903	GRIN2A	ORPHA:289266
HP:0000366	Abnormality of the nose	2903	GRIN2A	OMIM:245570
HP:0000366	Abnormality of the nose	1280	COL2A1	ORPHA:90653
HP:0000366	Abnormality of the nose	8036	SHOC2	ORPHA:2701
HP:0000366	Abnormality of the nose	5500	PPP1CB	ORPHA:2701
HP:0000366	Abnormality of the nose	2783	GNB2	OMIM:619503
HP:0000366	Abnormality of the nose	26040	SETBP1	OMIM:269150
HP:0000366	Abnormality of the nose	26040	SETBP1	ORPHA:798
HP:0000366	Abnormality of the nose	2316	FLNA	ORPHA:90652
HP:0000366	Abnormality of the nose	2316	FLNA	OMIM:311300
HP:0000366	Abnormality of the nose	1789	DNMT3B	OMIM:242860
HP:0000366	Abnormality of the nose	51604	PIGT	OMIM:615398
HP:0000366	Abnormality of the nose	2200	FBN1	OMIM:614185
HP:0000366	Abnormality of the nose	2200	FBN1	ORPHA:969
HP:0000366	Abnormality of the nose	55699	IARS2	OMIM:616007
HP:0000366	Abnormality of the nose	5048	PAFAH1B1	ORPHA:217385
HP:0000366	Abnormality of the nose	5048	PAFAH1B1	ORPHA:531
HP:0000366	Abnormality of the nose	7531	YWHAE	ORPHA:217385
HP:0000366	Abnormality of the nose	7531	YWHAE	ORPHA:531
HP:0000366	Abnormality of the nose	27125	AFF4	OMIM:616368
HP:0000366	Abnormality of the nose	27125	AFF4	ORPHA:444077
HP:0000366	Abnormality of the nose	9841	ZBTB24	OMIM:614069
HP:0000366	Abnormality of the nose	415	ARSL	ORPHA:79345
HP:0000366	Abnormality of the nose	415	ARSL	OMIM:302950
HP:0000366	Abnormality of the nose	79796	ALG9	ORPHA:79328
HP:0000366	Abnormality of the nose	79796	ALG9	OMIM:608776
HP:0000366	Abnormality of the nose	79718	TBL1XR1	OMIM:602342
HP:0000366	Abnormality of the nose	55210	ATAD3A	ORPHA:496790
HP:0000366	Abnormality of the nose	55210	ATAD3A	OMIM:617183
HP:0000366	Abnormality of the nose	8818	DPM2	OMIM:615042
HP:0000366	Abnormality of the nose	8818	DPM2	ORPHA:329178
HP:0000366	Abnormality of the nose	7750	ZMYM2	OMIM:619522
HP:0000366	Abnormality of the nose	27086	FOXP1	ORPHA:391372
HP:0000366	Abnormality of the nose	27086	FOXP1	OMIM:613670
HP:0000366	Abnormality of the nose	54928	BPNT2	OMIM:614078
HP:0000366	Abnormality of the nose	6942	TCF20	OMIM:618430
HP:0000366	Abnormality of the nose	9772	TMEM94	OMIM:618316
HP:0000366	Abnormality of the nose	25973	PARS2	OMIM:618437
HP:0000366	Abnormality of the nose	124583	CANT1	OMIM:251450
HP:0000366	Abnormality of the nose	56975	FAM20C	ORPHA:1832
HP:0000366	Abnormality of the nose	56975	FAM20C	OMIM:259775
HP:0000366	Abnormality of the nose	4208	MEF2C	ORPHA:228384
HP:0000366	Abnormality of the nose	4208	MEF2C	OMIM:613443
HP:0000366	Abnormality of the nose	23556	PIGN	OMIM:614080
HP:0000366	Abnormality of the nose	23556	PIGN	ORPHA:280633
HP:0000366	Abnormality of the nose	2239	GPC4	ORPHA:373
HP:0000366	Abnormality of the nose	2239	GPC4	OMIM:312870
HP:0000366	Abnormality of the nose	2719	GPC3	ORPHA:373
HP:0000366	Abnormality of the nose	2719	GPC3	OMIM:312870
HP:0000366	Abnormality of the nose	84168	ANTXR1	OMIM:230740
HP:0000366	Abnormality of the nose	2317	FLNB	OMIM:272460
HP:0000366	Abnormality of the nose	2317	FLNB	OMIM:108720
HP:0000366	Abnormality of the nose	6595	SMARCA2	OMIM:601358
HP:0000366	Abnormality of the nose	1387	CREBBP	OMIM:618332
HP:0000366	Abnormality of the nose	8295	TRRAP	OMIM:618454
HP:0000366	Abnormality of the nose	5881	RAC3	OMIM:618577
HP:0000366	Abnormality of the nose	54101	RIPK4	OMIM:263650
HP:0000366	Abnormality of the nose	54101	RIPK4	ORPHA:1234
HP:0000366	Abnormality of the nose	26173	INTS1	OMIM:618571
HP:0000366	Abnormality of the nose	1642	DDB1	OMIM:619426
HP:0000366	Abnormality of the nose	6857	SYT1	OMIM:618218
HP:0000366	Abnormality of the nose	6857	SYT1	ORPHA:522077
HP:0000366	Abnormality of the nose	5813	PURA	ORPHA:314655
HP:0000366	Abnormality of the nose	2737	GLI3	ORPHA:672
HP:0000366	Abnormality of the nose	2737	GLI3	OMIM:146510
HP:0000366	Abnormality of the nose	4921	DDR2	OMIM:271665
HP:0000366	Abnormality of the nose	54892	NCAPG2	OMIM:618460
HP:0000366	Abnormality of the nose	1859	DYRK1A	ORPHA:268261
HP:0000366	Abnormality of the nose	8573	CASK	OMIM:300749
HP:0000366	Abnormality of the nose	23314	SATB2	ORPHA:251028
HP:0000366	Abnormality of the nose	79813	EHMT1	ORPHA:96147
HP:0000366	Abnormality of the nose	128869	PIGU	OMIM:618590
HP:0000366	Abnormality of the nose	1349	COX7B	OMIM:300887
HP:0000366	Abnormality of the nose	6651	SON	OMIM:617140
HP:0000366	Abnormality of the nose	6651	SON	ORPHA:500150
HP:0000366	Abnormality of the nose	8882	ZPR1	OMIM:619321
HP:0000366	Abnormality of the nose	55777	MBD5	OMIM:156200
HP:0000366	Abnormality of the nose	4784	NFIX	OMIM:602535
HP:0000366	Abnormality of the nose	4784	NFIX	ORPHA:561
HP:0000366	Abnormality of the nose	4784	NFIX	OMIM:614753
HP:0000366	Abnormality of the nose	4621	MYH3	OMIM:193700
HP:0000366	Abnormality of the nose	2530	FUT8	OMIM:618005
HP:0000366	Abnormality of the nose	54496	PRMT7	OMIM:617157
HP:0000366	Abnormality of the nose	8260	NAA10	OMIM:300855
HP:0000366	Abnormality of the nose	10082	GPC6	OMIM:258315
HP:0000366	Abnormality of the nose	10082	GPC6	ORPHA:93329
HP:0000366	Abnormality of the nose	551	AVP	OMIM:125700
HP:0000366	Abnormality of the nose	23389	MED13L	ORPHA:369891
HP:0000366	Abnormality of the nose	2068	ERCC2	OMIM:601675
HP:0000366	Abnormality of the nose	10013	HDAC6	OMIM:300863
HP:0000366	Abnormality of the nose	10013	HDAC6	ORPHA:163966
HP:0000366	Abnormality of the nose	3977	LIFR	OMIM:601559
HP:0000366	Abnormality of the nose	11342	RNF13	OMIM:618379
HP:0000366	Abnormality of the nose	11342	RNF13	ORPHA:544503
HP:0000366	Abnormality of the nose	5144	PDE4D	ORPHA:439822
HP:0000366	Abnormality of the nose	5144	PDE4D	ORPHA:950
HP:0000366	Abnormality of the nose	5144	PDE4D	OMIM:614613
HP:0000366	Abnormality of the nose	9343	EFTUD2	OMIM:610536
HP:0000366	Abnormality of the nose	9343	EFTUD2	ORPHA:79113
HP:0000366	Abnormality of the nose	9321	TRIP11	ORPHA:166272
HP:0000366	Abnormality of the nose	9321	TRIP11	ORPHA:93299
HP:0000366	Abnormality of the nose	9321	TRIP11	OMIM:200600
HP:0000366	Abnormality of the nose	4882	NPR2	OMIM:602875
HP:0000366	Abnormality of the nose	5281	PIGF	OMIM:619356
HP:0000366	Abnormality of the nose	2290	FOXG1	ORPHA:261144
HP:0000366	Abnormality of the nose	6711	SPTBN1	OMIM:619475
HP:0000366	Abnormality of the nose	6608	SMO	OMIM:241800
HP:0000366	Abnormality of the nose	4796	TONSL	OMIM:271510
HP:0000366	Abnormality of the nose	4796	TONSL	ORPHA:93357
HP:0000366	Abnormality of the nose	136647	MPLKIP	OMIM:234050
HP:0000366	Abnormality of the nose	7204	TRIO	OMIM:617061
HP:0000366	Abnormality of the nose	7204	TRIO	ORPHA:476126
HP:0000366	Abnormality of the nose	3636	INPPL1	OMIM:258480
HP:0000366	Abnormality of the nose	3636	INPPL1	ORPHA:2746
HP:0000366	Abnormality of the nose	8567	MADD	OMIM:619004
HP:0000366	Abnormality of the nose	8567	MADD	OMIM:619005
HP:0000366	Abnormality of the nose	374879	ZNF699	OMIM:619488
HP:0000366	Abnormality of the nose	9373	PLAA	ORPHA:521426
HP:0000366	Abnormality of the nose	9373	PLAA	OMIM:617527
HP:0000366	Abnormality of the nose	64093	SMOC1	OMIM:206920
HP:0000366	Abnormality of the nose	23169	SLC35D1	OMIM:269250
HP:0000366	Abnormality of the nose	93587	TRMT10A	ORPHA:391408
HP:0000366	Abnormality of the nose	84919	PPP1R15B	ORPHA:391408
HP:0000366	Abnormality of the nose	3090	HIC1	ORPHA:531
HP:0000366	Abnormality of the nose	5528	PPP2R5D	ORPHA:457279
HP:0000366	Abnormality of the nose	89970	RSPRY1	ORPHA:457395
HP:0000366	Abnormality of the nose	89970	RSPRY1	OMIM:616723
HP:0000366	Abnormality of the nose	7474	WNT5A	OMIM:180700
HP:0000366	Abnormality of the nose	7474	WNT5A	ORPHA:3107
HP:0000366	Abnormality of the nose	9897	WASHC5	ORPHA:7
HP:0000366	Abnormality of the nose	28952	CCDC22	ORPHA:7
HP:0000366	Abnormality of the nose	129285	PPP1R21	OMIM:619383
HP:0000366	Abnormality of the nose	2263	FGFR2	OMIM:101600
HP:0000366	Abnormality of the nose	2263	FGFR2	ORPHA:93260
HP:0000366	Abnormality of the nose	2263	FGFR2	ORPHA:93258
HP:0000366	Abnormality of the nose	2263	FGFR2	ORPHA:93259
HP:0000366	Abnormality of the nose	168667	BMPER	OMIM:608022
HP:0000366	Abnormality of the nose	5573	PRKAR1A	ORPHA:950
HP:0000366	Abnormality of the nose	158	ADSL	OMIM:103050
HP:0000366	Abnormality of the nose	158	ADSL	ORPHA:46
HP:0000366	Abnormality of the nose	6309	SC5D	ORPHA:46059
HP:0000366	Abnormality of the nose	6309	SC5D	OMIM:607330
HP:0000366	Abnormality of the nose	5885	RAD21	OMIM:614701
HP:0000366	Abnormality of the nose	5885	RAD21	ORPHA:199
HP:0000366	Abnormality of the nose	673	BRAF	OMIM:115150
HP:0000366	Abnormality of the nose	673	BRAF	ORPHA:1340
HP:0000366	Abnormality of the nose	145173	B3GLCT	ORPHA:709
HP:0000366	Abnormality of the nose	4774	NFIA	OMIM:613735
HP:0000366	Abnormality of the nose	2629	GBA1	OMIM:608013
HP:0000366	Abnormality of the nose	5447	POR	ORPHA:95699
HP:0000366	Abnormality of the nose	9401	RECQL4	OMIM:268400
HP:0000366	Abnormality of the nose	9401	RECQL4	ORPHA:1225
HP:0000366	Abnormality of the nose	374654	KIF7	OMIM:200990
HP:0000366	Abnormality of the nose	89910	UBE3B	OMIM:244450
HP:0000366	Abnormality of the nose	2314	FLII	ORPHA:819
HP:0000366	Abnormality of the nose	23096	IQSEC2	ORPHA:819
HP:0000366	Abnormality of the nose	10743	RAI1	ORPHA:819
HP:0000366	Abnormality of the nose	10522	DEAF1	ORPHA:819
HP:0000366	Abnormality of the nose	10978	CLP1	OMIM:615803
HP:0000366	Abnormality of the nose	10225	CD96	OMIM:211750
HP:0000366	Abnormality of the nose	10225	CD96	ORPHA:1308
HP:0000366	Abnormality of the nose	4038	LRP4	ORPHA:3258
HP:0000366	Abnormality of the nose	324	APC	ORPHA:3258
HP:0000366	Abnormality of the nose	6197	RPS6KA3	OMIM:303600
HP:0000366	Abnormality of the nose	4001	LMNB1	OMIM:619179
HP:0000366	Abnormality of the nose	8913	CACNA1G	OMIM:618087
HP:0000366	Abnormality of the nose	1889	ECE1	OMIM:613870
HP:0000366	Abnormality of the nose	4054	LTBP3	ORPHA:969
HP:0000366	Abnormality of the nose	4338	MOCS2	OMIM:252160
HP:0000366	Abnormality of the nose	79867	TCTN2	OMIM:613885
HP:0000366	Abnormality of the nose	1028	CDKN1C	OMIM:614732
HP:0000366	Abnormality of the nose	2752	GLUL	OMIM:610015
HP:0000366	Abnormality of the nose	4036	LRP2	ORPHA:2143
HP:0000366	Abnormality of the nose	4036	LRP2	OMIM:222448
HP:0000366	Abnormality of the nose	83879	CDCA7	OMIM:616910
HP:0000366	Abnormality of the nose	25942	SIN3A	OMIM:613406
HP:0000366	Abnormality of the nose	175	AGA	ORPHA:93
HP:0000366	Abnormality of the nose	5063	PAK3	OMIM:300558
HP:0000366	Abnormality of the nose	2677	GGCX	OMIM:277450
HP:0000366	Abnormality of the nose	1857	DVL3	ORPHA:3107
HP:0000366	Abnormality of the nose	1857	DVL3	OMIM:616894
HP:0000366	Abnormality of the nose	2535	FZD2	ORPHA:3107
HP:0000366	Abnormality of the nose	2535	FZD2	ORPHA:93328
HP:0000366	Abnormality of the nose	5190	PEX6	OMIM:614863
HP:0000366	Abnormality of the nose	6201	RPS7	OMIM:612563
HP:0000366	Abnormality of the nose	6804	STX1A	ORPHA:904
HP:0000366	Abnormality of the nose	7461	CLIP2	ORPHA:904
HP:0000366	Abnormality of the nose	84277	DNAJC30	ORPHA:904
HP:0000366	Abnormality of the nose	8468	FKBP6	ORPHA:904
HP:0000366	Abnormality of the nose	5982	RFC2	ORPHA:904
HP:0000366	Abnormality of the nose	2969	GTF2I	ORPHA:904
HP:0000366	Abnormality of the nose	3984	LIMK1	ORPHA:904
HP:0000366	Abnormality of the nose	9569	GTF2IRD1	ORPHA:904
HP:0000366	Abnormality of the nose	155382	VPS37D	ORPHA:904
HP:0000366	Abnormality of the nose	155368	METTL27	ORPHA:904
HP:0000366	Abnormality of the nose	114049	BUD23	ORPHA:904
HP:0000366	Abnormality of the nose	7458	EIF4H	ORPHA:904
HP:0000366	Abnormality of the nose	84163	GTF2IRD2	ORPHA:904
HP:0000366	Abnormality of the nose	9275	BCL7B	ORPHA:904
HP:0000366	Abnormality of the nose	26608	TBL2	ORPHA:904
HP:0000366	Abnormality of the nose	653361	NCF1	ORPHA:904
HP:0000366	Abnormality of the nose	135886	TMEM270	ORPHA:904
HP:0000366	Abnormality of the nose	51085	MLXIPL	ORPHA:904
HP:0000366	Abnormality of the nose	51085	MLXIPL	OMIM:194050
HP:0000366	Abnormality of the nose	9031	BAZ1B	ORPHA:904
HP:0000366	Abnormality of the nose	2006	ELN	ORPHA:904
HP:0000366	Abnormality of the nose	2006	ELN	OMIM:194050
HP:0000366	Abnormality of the nose	3211	HOXB1	OMIM:614744
HP:0000366	Abnormality of the nose	84720	PIGO	OMIM:614749
HP:0000366	Abnormality of the nose	81031	SLC2A10	ORPHA:3342
HP:0000366	Abnormality of the nose	54499	TMCO1	OMIM:213980
HP:0000366	Abnormality of the nose	54499	TMCO1	ORPHA:1394
HP:0000366	Abnormality of the nose	9719	ADAMTSL2	OMIM:231050
HP:0000366	Abnormality of the nose	93210	PGAP3	OMIM:615716
HP:0000366	Abnormality of the nose	4094	MAF	ORPHA:1272
HP:0000366	Abnormality of the nose	4094	MAF	OMIM:601088
HP:0000366	Abnormality of the nose	5159	PDGFRB	OMIM:601812
HP:0000366	Abnormality of the nose	3845	KRAS	ORPHA:3339
HP:0000366	Abnormality of the nose	3845	KRAS	ORPHA:1340
HP:0000366	Abnormality of the nose	3845	KRAS	OMIM:609942
HP:0000366	Abnormality of the nose	51322	WAC	ORPHA:284169
HP:0000366	Abnormality of the nose	55275	VPS53	OMIM:615851
HP:0000366	Abnormality of the nose	1302	COL11A2	OMIM:614524
HP:0000366	Abnormality of the nose	1836	SLC26A2	ORPHA:93298
HP:0000366	Abnormality of the nose	80324	PUS1	ORPHA:2598
HP:0000366	Abnormality of the nose	51067	YARS2	ORPHA:2598
HP:0000366	Abnormality of the nose	701	BUB1B	OMIM:257300
HP:0000366	Abnormality of the nose	5631	PRPS1	OMIM:300661
HP:0000366	Abnormality of the nose	51025	PAM16	OMIM:613320
HP:0000366	Abnormality of the nose	51053	GMNN	OMIM:616835
HP:0000366	Abnormality of the nose	7407	VARS1	OMIM:617802
HP:0000366	Abnormality of the nose	6664	SOX11	OMIM:615866
HP:0000366	Abnormality of the nose	6664	SOX11	ORPHA:1465
HP:0000366	Abnormality of the nose	10075	HUWE1	OMIM:309590
HP:0000366	Abnormality of the nose	91949	COG7	OMIM:608779
HP:0000366	Abnormality of the nose	2245	FGD1	OMIM:305400
HP:0000366	Abnormality of the nose	8243	SMC1A	OMIM:301044
HP:0000366	Abnormality of the nose	8243	SMC1A	ORPHA:199
HP:0000366	Abnormality of the nose	22856	CHSY1	ORPHA:363417
HP:0000366	Abnormality of the nose	23394	ADNP	OMIM:615873
HP:0000366	Abnormality of the nose	546	ATRX	OMIM:301040
HP:0000366	Abnormality of the nose	79650	USB1	OMIM:604173
HP:0000366	Abnormality of the nose	113179	ADAT3	ORPHA:363528
HP:0000366	Abnormality of the nose	84162	BLTP1	OMIM:617822
HP:0000366	Abnormality of the nose	3313	HSPA9	OMIM:616854
HP:0000366	Abnormality of the nose	3767	KCNJ11	ORPHA:79134
HP:0000366	Abnormality of the nose	79731	NARS2	ORPHA:79134
HP:0000366	Abnormality of the nose	6833	ABCC8	ORPHA:79134
HP:0000366	Abnormality of the nose	10269	ZMPSTE24	ORPHA:90154
HP:0000366	Abnormality of the nose	10269	ZMPSTE24	OMIM:608612
HP:0000366	Abnormality of the nose	389827	MYMK	ORPHA:1358
HP:0000366	Abnormality of the nose	101929726	MYMX	ORPHA:1358
HP:0000366	Abnormality of the nose	6597	SMARCA4	ORPHA:1465
HP:0000366	Abnormality of the nose	6598	SMARCB1	ORPHA:1465
HP:0000366	Abnormality of the nose	8289	ARID1A	ORPHA:1465
HP:0000366	Abnormality of the nose	5977	DPF2	ORPHA:1465
HP:0000366	Abnormality of the nose	6601	SMARCC2	ORPHA:1465
HP:0000366	Abnormality of the nose	6602	SMARCD1	ORPHA:1465
HP:0000366	Abnormality of the nose	57492	ARID1B	ORPHA:1465
HP:0000366	Abnormality of the nose	196528	ARID2	ORPHA:1465
HP:0000366	Abnormality of the nose	6605	SMARCE1	ORPHA:1465
HP:0000366	Abnormality of the nose	27315	PGAP2	OMIM:614207
HP:0000366	Abnormality of the nose	5604	MAP2K1	ORPHA:1340
HP:0000366	Abnormality of the nose	5605	MAP2K2	ORPHA:1340
HP:0000366	Abnormality of the nose	259232	NALCN	OMIM:615419
HP:0000366	Abnormality of the nose	197131	UBR1	ORPHA:2315
HP:0000366	Abnormality of the nose	5422	POLA1	OMIM:301030
HP:0000366	Abnormality of the nose	5745	PTH1R	ORPHA:50945
HP:0000366	Abnormality of the nose	84188	FAR1	ORPHA:438178
HP:0000366	Abnormality of the nose	8985	PLOD3	OMIM:612394
HP:0000366	Abnormality of the nose	25	ABL1	OMIM:617602
HP:0000366	Abnormality of the nose	2475	MTOR	OMIM:616638
HP:0000366	Abnormality of the nose	6638	SNRPN	ORPHA:177907
HP:0000366	Abnormality of the nose	2313	FLI1	ORPHA:2308
HP:0000366	Abnormality of the nose	9361	LONP1	ORPHA:1458
HP:0000366	Abnormality of the nose	60	ACTB	OMIM:243310
HP:0000366	Abnormality of the nose	23476	BRD4	ORPHA:199
HP:0000366	Abnormality of the nose	9126	SMC3	ORPHA:199
HP:0000366	Abnormality of the nose	25836	NIPBL	ORPHA:199
HP:0000366	Abnormality of the nose	55869	HDAC8	ORPHA:199
HP:0000366	Abnormality of the nose	10664	CTCF	ORPHA:363611
HP:0000366	Abnormality of the nose	25782	RAB3GAP2	OMIM:614225
HP:0000366	Abnormality of the nose	25782	RAB3GAP2	ORPHA:2510
HP:0000366	Abnormality of the nose	22931	RAB18	OMIM:614222
HP:0000366	Abnormality of the nose	22931	RAB18	ORPHA:2510
HP:0000366	Abnormality of the nose	4337	MOCS1	OMIM:252150
HP:0000366	Abnormality of the nose	29957	SLC25A24	OMIM:612289
HP:0000366	Abnormality of the nose	25885	POLR1A	ORPHA:1200
HP:0000366	Abnormality of the nose	10907	TXNL4A	ORPHA:1200
HP:0000366	Abnormality of the nose	4659	PPP1R12A	OMIM:618820
HP:0000366	Abnormality of the nose	4329	ALDH6A1	OMIM:614105
HP:0000366	Abnormality of the nose	8405	SPOP	OMIM:618828
HP:0000366	Abnormality of the nose	23545	ATP6V0A2	OMIM:219200
HP:0000366	Abnormality of the nose	23545	ATP6V0A2	ORPHA:357074
HP:0000366	Abnormality of the nose	4893	NRAS	OMIM:137550
HP:0000366	Abnormality of the nose	3265	HRAS	OMIM:137550
HP:0000366	Abnormality of the nose	9702	CEP57	OMIM:614114
HP:0000366	Abnormality of the nose	57688	ZSWIM6	OMIM:617865
HP:0000366	Abnormality of the nose	202018	TAPT1	OMIM:616897
HP:0000366	Abnormality of the nose	55704	CCDC88A	OMIM:617507
HP:0000366	Abnormality of the nose	54676	GTPBP2	OMIM:617988
HP:0000366	Abnormality of the nose	126792	B3GALT6	ORPHA:536467
HP:0000366	Abnormality of the nose	5331	PLCB3	OMIM:618961
HP:0000366	Abnormality of the nose	9320	TRIP12	OMIM:617752
HP:0000366	Abnormality of the nose	523	ATP6V1A	ORPHA:357074
HP:0000366	Abnormality of the nose	529	ATP6V1E1	ORPHA:357074
HP:0000366	Abnormality of the nose	29920	PYCR2	OMIM:616420
HP:0000366	Abnormality of the nose	55023	PHIP	OMIM:617991
HP:0000366	Abnormality of the nose	650	BMP2	OMIM:617877
HP:0000366	Abnormality of the nose	7476	WNT7A	ORPHA:2879
HP:0000366	Abnormality of the nose	5449	POU1F1	OMIM:613038
HP:0000366	Abnormality of the nose	22930	RAB3GAP1	ORPHA:2510
HP:0000366	Abnormality of the nose	128637	TBC1D20	ORPHA:2510
HP:0000366	Abnormality of the nose	26123	TCTN3	ORPHA:2753
HP:0000366	Abnormality of the nose	11141	IL1RAPL1	OMIM:300143
HP:0000366	Abnormality of the nose	1806	DPYD	ORPHA:293948
HP:0000366	Abnormality of the nose	92935	MARS2	OMIM:616430
HP:0000366	Abnormality of the nose	22827	PUF60	OMIM:615583
HP:0000366	Abnormality of the nose	8398	PLA2G6	OMIM:256600
HP:0000366	Abnormality of the nose	406932	MIR140	OMIM:618618
HP:0000366	Abnormality of the nose	58499	ZNF462	OMIM:618619
HP:0000366	Abnormality of the nose	9990	SLC12A6	OMIM:218000
HP:0000366	Abnormality of the nose	2811	GP1BA	ORPHA:274
HP:0000366	Abnormality of the nose	2815	GP9	ORPHA:274
HP:0000366	Abnormality of the nose	84343	HPS3	OMIM:614072
HP:0000366	Abnormality of the nose	3674	ITGA2B	ORPHA:849
HP:0000366	Abnormality of the nose	3690	ITGB3	ORPHA:849
HP:0000366	Abnormality of the nose	4627	MYH9	ORPHA:182050
HP:0000366	Abnormality of the nose	1130	LYST	OMIM:214500
HP:0000366	Abnormality of the nose	6714	SRC	OMIM:616937
HP:0000366	Abnormality of the nose	2658	GDF2	OMIM:615506
HP:0000366	Abnormality of the nose	56172	ANKH	OMIM:123000
HP:0000366	Abnormality of the nose	3064	HTT	ORPHA:399
HP:0000366	Abnormality of the nose	6515	SLC2A3	ORPHA:399
HP:0000366	Abnormality of the nose	8643	PTCH2	ORPHA:377
HP:0000366	Abnormality of the nose	5980	REV3L	ORPHA:570
HP:0000366	Abnormality of the nose	23129	PLXND1	ORPHA:570
HP:0000366	Abnormality of the nose	538	ATP7A	ORPHA:198
HP:0000366	Abnormality of the nose	3972	LHB	OMIM:228300
HP:0000366	Abnormality of the nose	558	AXL	OMIM:146110
HP:0000366	Abnormality of the nose	2798	GNRHR	OMIM:146110
HP:0000366	Abnormality of the nose	10011	SRA1	OMIM:146110
HP:0000366	Abnormality of the nose	4771	NF2	ORPHA:2495
HP:0000366	Abnormality of the nose	5155	PDGFB	ORPHA:2495
HP:0000366	Abnormality of the nose	84231	TRAF7	ORPHA:2495
HP:0000366	Abnormality of the nose	5290	PIK3CA	ORPHA:2495
HP:0000366	Abnormality of the nose	7015	TERT	ORPHA:2495
HP:0000366	Abnormality of the nose	10194	TSHZ1	OMIM:607842
HP:0000366	Abnormality of the nose	11020	IFT27	OMIM:615996
HP:0000366	Abnormality of the nose	120892	LRRK2	OMIM:607060
HP:0000366	Abnormality of the nose	120892	LRRK2	ORPHA:411602
HP:0000366	Abnormality of the nose	120892	LRRK2	ORPHA:2828
HP:0000366	Abnormality of the nose	59335	PRDM12	OMIM:616488
HP:0000366	Abnormality of the nose	23317	DNAJC13	ORPHA:411602
HP:0000366	Abnormality of the nose	1981	EIF4G1	ORPHA:411602
HP:0000366	Abnormality of the nose	55737	VPS35	ORPHA:411602
HP:0000366	Abnormality of the nose	26058	GIGYF2	ORPHA:411602
HP:0000366	Abnormality of the nose	6622	SNCA	ORPHA:411602
HP:0000366	Abnormality of the nose	6622	SNCA	ORPHA:2828
HP:0000366	Abnormality of the nose	1656	DDX6	OMIM:618653
HP:0000366	Abnormality of the nose	54832	VPS13C	ORPHA:2828
HP:0000366	Abnormality of the nose	11315	PARK7	ORPHA:2828
HP:0000366	Abnormality of the nose	7345	UCHL1	ORPHA:2828
HP:0000366	Abnormality of the nose	27429	HTRA2	ORPHA:2828
HP:0000366	Abnormality of the nose	9829	DNAJC6	ORPHA:2828
HP:0000366	Abnormality of the nose	5420	PODXL	ORPHA:2828
HP:0000366	Abnormality of the nose	65018	PINK1	ORPHA:2828
HP:0000366	Abnormality of the nose	8867	SYNJ1	ORPHA:2828
HP:0000366	Abnormality of the nose	5071	PRKN	ORPHA:2828
HP:0000366	Abnormality of the nose	6342	SCP2	OMIM:613724
HP:0000366	Abnormality of the nose	540	ATP7B	OMIM:277900
HP:0000366	Abnormality of the nose	56915	EXOSC5	OMIM:619576
HP:0000366	Abnormality of the nose	4841	NONO	OMIM:300967
HP:0000366	Abnormality of the nose	124590	USH1G	OMIM:606943
HP:0000366	Abnormality of the nose	10262	SF3B4	ORPHA:245
HP:0000366	Abnormality of the nose	4487	MSX1	ORPHA:141291
HP:0000366	Abnormality of the nose	5818	NECTIN1	ORPHA:141291
HP:0000366	Abnormality of the nose	3664	IRF6	ORPHA:141291
HP:0000366	Abnormality of the nose	894	CCND2	ORPHA:83473
HP:0000366	Abnormality of the nose	5296	PIK3R2	ORPHA:83473
HP:0000366	Abnormality of the nose	10000	AKT3	ORPHA:83473
HP:0000366	Abnormality of the nose	2067	ERCC1	ORPHA:1466
HP:0000366	Abnormality of the nose	10584	COLEC10	ORPHA:293843
HP:0000366	Abnormality of the nose	5648	MASP1	ORPHA:293843
HP:0000366	Abnormality of the nose	54796	BNC2	ORPHA:93110
HP:0000366	Abnormality of the nose	4047	LSS	ORPHA:2850
HP:0000366	Abnormality of the nose	197	AHSG	ORPHA:2850
HP:0000366	Abnormality of the nose	3694	ITGB6	ORPHA:2850
HP:0000366	Abnormality of the nose	57192	MCOLN1	ORPHA:578
HP:0000366	Abnormality of the nose	1482	NKX2-5	ORPHA:3303
HP:0000366	Abnormality of the nose	137814	NKX2-6	ORPHA:3303
HP:0000366	Abnormality of the nose	23414	ZFPM2	ORPHA:3303
HP:0000366	Abnormality of the nose	3791	KDR	ORPHA:3303
HP:0000366	Abnormality of the nose	2627	GATA6	ORPHA:3303
HP:0000366	Abnormality of the nose	2657	GDF1	ORPHA:3303
HP:0000366	Abnormality of the nose	140628	GATA5	ORPHA:3303
HP:0000366	Abnormality of the nose	2324	FLT4	ORPHA:3303
HP:0000366	Abnormality of the nose	10370	CITED2	ORPHA:3303
HP:0000366	Abnormality of the nose	4604	MYBPC1	OMIM:618524
HP:0000366	Abnormality of the nose	200734	SPRED2	OMIM:619745
HP:0000366	Abnormality of the nose	7136	TNNI2	OMIM:601680
HP:0000366	Abnormality of the nose	26038	CHD5	OMIM:619873
HP:0000366	Abnormality of the nose	1139	CHRNA7	ORPHA:199318
HP:0000366	Abnormality of the nose	5530	PPP3CA	OMIM:617711
HP:0000366	Abnormality of the nose	201163	FLCN	OMIM:610883
HP:0000366	Abnormality of the nose	7703	PCGF2	OMIM:618371
HP:0000366	Abnormality of the nose	5567	PRKACB	OMIM:619143
HP:0000366	Abnormality of the nose	8294	H4C9	OMIM:619951
HP:0000366	Abnormality of the nose	28981	IFT81	OMIM:617895
HP:0000366	Abnormality of the nose	50651	SLC45A1	OMIM:617532
HP:0000366	Abnormality of the nose	23135	KDM6B	OMIM:618505
HP:0000366	Abnormality of the nose	6228	RPS23	OMIM:617412
HP:0000366	Abnormality of the nose	7360	UGP2	OMIM:618744
HP:0000366	Abnormality of the nose	5361	PLXNA1	OMIM:619955
HP:0000366	Abnormality of the nose	8942	KYNU	OMIM:617661
HP:0000366	Abnormality of the nose	27245	AHDC1	ORPHA:412069
HP:0000366	Abnormality of the nose	27245	AHDC1	OMIM:615829
HP:0000366	Abnormality of the nose	7252	TSHB	ORPHA:90674
HP:0000366	Abnormality of the nose	7252	TSHB	OMIM:275100
HP:0000366	Abnormality of the nose	79029	AFG2B	OMIM:619616
HP:0000366	Abnormality of the nose	81794	ADAMTS10	OMIM:277600
HP:0000366	Abnormality of the nose	3043	HBB	ORPHA:231214
HP:0000366	Abnormality of the nose	3043	HBB	ORPHA:231226
HP:0000366	Abnormality of the nose	8363	H4C11	OMIM:619759
HP:0000366	Abnormality of the nose	3373	HYAL1	OMIM:601492
HP:0000366	Abnormality of the nose	775	CACNA1C	OMIM:601005
HP:0000366	Abnormality of the nose	775	CACNA1C	OMIM:620029
HP:0000366	Abnormality of the nose	23499	MACF1	OMIM:618325
HP:0000366	Abnormality of the nose	8813	DPM1	ORPHA:79322
HP:0000366	Abnormality of the nose	8813	DPM1	OMIM:608799
HP:0000366	Abnormality of the nose	56160	NSMCE3	OMIM:617241
HP:0000366	Abnormality of the nose	1917	EEF1A2	OMIM:616393
HP:0000366	Abnormality of the nose	6654	SOS1	OMIM:610733
HP:0000366	Abnormality of the nose	1801	DPH1	ORPHA:459061
HP:0000366	Abnormality of the nose	1801	DPH1	OMIM:616901
HP:0000366	Abnormality of the nose	2879	GPX4	OMIM:250220
HP:0000366	Abnormality of the nose	5351	PLOD1	OMIM:225400
HP:0000366	Abnormality of the nose	8675	STX16	ORPHA:94089
HP:0000366	Abnormality of the nose	59341	TRPV4	OMIM:156530
HP:0000366	Abnormality of the nose	59341	TRPV4	OMIM:184252
HP:0000366	Abnormality of the nose	59341	TRPV4	ORPHA:2635
HP:0000366	Abnormality of the nose	57551	TAOK1	OMIM:619575
HP:0000366	Abnormality of the nose	24140	FTSJ1	OMIM:309549
HP:0000366	Abnormality of the nose	9509	ADAMTS2	ORPHA:1901
HP:0000366	Abnormality of the nose	63931	MRPS14	OMIM:618378
HP:0000366	Abnormality of the nose	9451	EIF2AK3	OMIM:226980
HP:0000366	Abnormality of the nose	80173	IFT74	OMIM:619582
HP:0000366	Abnormality of the nose	54681	P4HTM	OMIM:618493
HP:0000366	Abnormality of the nose	7846	TUBA1A	ORPHA:994
HP:0000366	Abnormality of the nose	4654	MYOD1	ORPHA:994
HP:0000366	Abnormality of the nose	6572	SLC18A3	ORPHA:994
HP:0000366	Abnormality of the nose	285489	DOK7	ORPHA:994
HP:0000366	Abnormality of the nose	10526	IPO8	OMIM:619472
HP:0000366	Abnormality of the nose	348180	CTU2	OMIM:618142
HP:0000366	Abnormality of the nose	2222	FDFT1	OMIM:618156
HP:0000366	Abnormality of the nose	203068	TUBB	OMIM:156610
HP:0000366	Abnormality of the nose	51715	RAB23	OMIM:201000
HP:0000366	Abnormality of the nose	57477	SHROOM4	ORPHA:85288
HP:0000366	Abnormality of the nose	3295	HSD17B4	OMIM:261515
HP:0000366	Abnormality of the nose	55901	THSD1	OMIM:620244
HP:0000366	Abnormality of the nose	4668	NAGA	OMIM:609242
HP:0000366	Abnormality of the nose	4668	NAGA	ORPHA:79280
HP:0000366	Abnormality of the nose	2801	GOLGA2	OMIM:620240
HP:0000366	Abnormality of the nose	64802	NMNAT1	OMIM:619260
HP:0000366	Abnormality of the nose	51626	DYNC2LI1	OMIM:617088
HP:0000366	Abnormality of the nose	27445	PCLO	OMIM:608027
HP:0000366	Abnormality of the nose	121340	SP7	OMIM:613849
HP:0000366	Abnormality of the nose	1299	COL9A3	OMIM:620022
HP:0000366	Abnormality of the nose	80055	PGAP1	OMIM:615802
HP:0000366	Abnormality of the nose	50814	NSDHL	OMIM:308050
HP:0000366	Abnormality of the nose	4524	MTHFR	ORPHA:563612
HP:0000366	Abnormality of the nose	57216	VANGL2	ORPHA:563612
HP:0000366	Abnormality of the nose	3070	HELLS	ORPHA:2268
HP:0000366	Abnormality of the nose	3070	HELLS	OMIM:616911
HP:0000366	Abnormality of the nose	84300	UQCC2	OMIM:615824
HP:0000366	Abnormality of the nose	657	BMPR1A	ORPHA:79076
HP:0000366	Abnormality of the nose	8022	LHX3	ORPHA:226307
HP:0000366	Abnormality of the nose	23345	SYNE1	ORPHA:319332
HP:0000366	Abnormality of the nose	3911	LAMA5	OMIM:620076
HP:0000366	Abnormality of the nose	10430	TMEM147	OMIM:620075
HP:0000366	Abnormality of the nose	2146	EZH2	OMIM:277590
HP:0000366	Abnormality of the nose	91252	SLC39A13	OMIM:612350
HP:0000366	Abnormality of the nose	55212	BBS7	OMIM:615984
HP:0000366	Abnormality of the nose	22907	DHX30	OMIM:617804
HP:0000366	Abnormality of the nose	6888	TALDO1	OMIM:606003
HP:0000366	Abnormality of the nose	405753	DUOXA2	ORPHA:95716
HP:0000366	Abnormality of the nose	6528	SLC5A5	ORPHA:95716
HP:0000366	Abnormality of the nose	7038	TG	ORPHA:95716
HP:0000366	Abnormality of the nose	7173	TPO	ORPHA:95716
HP:0000366	Abnormality of the nose	389434	IYD	ORPHA:95716
HP:0000366	Abnormality of the nose	50506	DUOX2	ORPHA:95716
HP:0000366	Abnormality of the nose	1000	CDH2	OMIM:618929
HP:0000366	Abnormality of the nose	84342	COG8	OMIM:611182
HP:0000366	Abnormality of the nose	5062	PAK2	ORPHA:1571
HP:0000366	Abnormality of the nose	9997	SCO2	OMIM:604377
HP:0000366	Abnormality of the nose	55180	LINS1	OMIM:614340
HP:0000366	Abnormality of the nose	4190	MDH1	OMIM:618959
HP:0000366	Abnormality of the nose	5495	PPM1B	ORPHA:163693
HP:0000366	Abnormality of the nose	6519	SLC3A1	ORPHA:163693
HP:0000366	Abnormality of the nose	9581	PREPL	ORPHA:163693
HP:0000366	Abnormality of the nose	79823	CAMKMT	ORPHA:163693
HP:0000366	Abnormality of the nose	9469	CHST3	OMIM:245600
HP:0000366	Abnormality of the nose	26229	B3GAT3	OMIM:245600
HP:0000366	Abnormality of the nose	5307	PITX1	OMIM:119800
HP:0000366	Abnormality of the nose	84148	KAT8	OMIM:618974
HP:0000366	Abnormality of the nose	25871	NEPRO	OMIM:618853
HP:0000366	Abnormality of the nose	6929	TCF3	OMIM:619824
HP:0000366	Abnormality of the nose	2108	ETFA	OMIM:231680
HP:0000366	Abnormality of the nose	2109	ETFB	OMIM:231680
HP:0000366	Abnormality of the nose	2110	ETFDH	OMIM:231680
HP:0000366	Abnormality of the nose	176	ACAN	ORPHA:171866
HP:0000366	Abnormality of the nose	176	ACAN	OMIM:612813
HP:0000366	Abnormality of the nose	6650	CAPN15	OMIM:619318
HP:0000366	Abnormality of the nose	7707	ZNF148	OMIM:617260
HP:0000366	Abnormality of the nose	3021	H3-3B	OMIM:619721
HP:0000366	Abnormality of the nose	56098	PCDHGC4	OMIM:619880
HP:0000366	Abnormality of the nose	57082	KNL1	OMIM:604321
HP:0000366	Abnormality of the nose	6904	TBCD	OMIM:617193
HP:0000366	Abnormality of the nose	3188	HNRNPH2	OMIM:300986
HP:0000366	Abnormality of the nose	57178	ZMIZ1	OMIM:618659
HP:0000366	Abnormality of the nose	7319	UBE2A	ORPHA:163956
HP:0000366	Abnormality of the nose	340419	RSPO2	ORPHA:3301
HP:0000366	Abnormality of the nose	284058	KANSL1	ORPHA:363958
HP:0000366	Abnormality of the nose	284058	KANSL1	ORPHA:363965
HP:0000366	Abnormality of the nose	23461	ABCA5	OMIM:135400
HP:0000366	Abnormality of the nose	387	RHOA	OMIM:618727
HP:0000366	Abnormality of the nose	2131	EXT1	ORPHA:502
HP:0000366	Abnormality of the nose	7227	TRPS1	ORPHA:502
HP:0000366	Abnormality of the nose	157570	ESCO2	OMIM:268300
HP:0000366	Abnormality of the nose	3763	KCNJ6	ORPHA:435628
HP:0000366	Abnormality of the nose	3763	KCNJ6	OMIM:614098
HP:0000366	Abnormality of the nose	11146	GLMN	ORPHA:83454
HP:0000366	Abnormality of the nose	7507	XPA	ORPHA:910
HP:0000366	Abnormality of the nose	2071	ERCC3	ORPHA:910
HP:0000366	Abnormality of the nose	7508	XPC	ORPHA:910
HP:0000366	Abnormality of the nose	1643	DDB2	ORPHA:910
HP:0000366	Abnormality of the nose	2072	ERCC4	ORPHA:910
HP:0000366	Abnormality of the nose	2073	ERCC5	ORPHA:910
HP:0000366	Abnormality of the nose	5286	PIK3C2A	OMIM:618440
HP:0000366	Abnormality of the nose	5286	PIK3C2A	ORPHA:557003
HP:0000366	Abnormality of the nose	51109	RDH11	ORPHA:436245
HP:0000366	Abnormality of the nose	10283	CWC27	OMIM:250410
HP:0000366	Abnormality of the nose	10283	CWC27	ORPHA:166035
HP:0000366	Abnormality of the nose	150468	CKAP2L	ORPHA:3255
HP:0000366	Abnormality of the nose	54084	TSPEAR	OMIM:618180
HP:0000366	Abnormality of the nose	11253	MAN1B1	OMIM:614202
HP:0000366	Abnormality of the nose	11253	MAN1B1	ORPHA:397941
HP:0000366	Abnormality of the nose	283209	PGM2L1	OMIM:620191
HP:0000366	Abnormality of the nose	23019	CNOT1	ORPHA:556955
HP:0000366	Abnormality of the nose	30011	SH3KBP1	OMIM:300310
HP:0000366	Abnormality of the nose	695	BTK	OMIM:300755
HP:0000366	Abnormality of the nose	930	CD19	OMIM:613493
HP:0000366	Abnormality of the nose	930	CD19	OMIM:240500
HP:0000366	Abnormality of the nose	115650	TNFRSF13C	OMIM:613494
HP:0000366	Abnormality of the nose	115650	TNFRSF13C	OMIM:240500
HP:0000366	Abnormality of the nose	5880	RAC2	OMIM:618986
HP:0000366	Abnormality of the nose	987	LRBA	OMIM:614700
HP:0000366	Abnormality of the nose	3426	CFI	OMIM:610984
HP:0000366	Abnormality of the nose	3507	IGHM	OMIM:601495
HP:0000366	Abnormality of the nose	4256	MGP	ORPHA:85202
HP:0000366	Abnormality of the nose	51816	ADA2	OMIM:615688
HP:0000366	Abnormality of the nose	4790	NFKB1	OMIM:616576
HP:0000366	Abnormality of the nose	85452	CFAP74	OMIM:620197
HP:0000366	Abnormality of the nose	8382	NME5	OMIM:620032
HP:0000366	Abnormality of the nose	29851	ICOS	OMIM:607594
HP:0000366	Abnormality of the nose	29851	ICOS	OMIM:240500
HP:0000366	Abnormality of the nose	84905	ZNF341	OMIM:618282
HP:0000366	Abnormality of the nose	23495	TNFRSF13B	OMIM:240500
HP:0000366	Abnormality of the nose	1380	CR2	OMIM:240500
HP:0000366	Abnormality of the nose	84061	MAGT1	OMIM:300853
HP:0000366	Abnormality of the nose	1290	COL5A2	OMIM:130010
HP:0000366	Abnormality of the nose	10625	IVNS1ABP	OMIM:618969
HP:0000366	Abnormality of the nose	4194	MDM4	OMIM:618849
HP:0000366	Abnormality of the nose	3551	IKBKB	OMIM:618204
HP:0000366	Abnormality of the nose	23765	IL17RA	OMIM:613953
HP:0000366	Abnormality of the nose	81704	DOCK8	OMIM:243700
HP:0000366	Abnormality of the nose	81704	DOCK8	ORPHA:217390
HP:0000366	Abnormality of the nose	721	C4B	OMIM:614379
HP:0000366	Abnormality of the nose	359948	IRF2BP2	OMIM:617765
HP:0000366	Abnormality of the nose	4689	NCF4	OMIM:613960
HP:0000366	Abnormality of the nose	6688	SPI1	OMIM:619707
HP:0000366	Abnormality of the nose	2214	FCGR3A	OMIM:615707
HP:0000366	Abnormality of the nose	165918	RNF168	ORPHA:420741
HP:0000366	Abnormality of the nose	3479	IGF1	ORPHA:73272
HP:0000366	Abnormality of the nose	26235	FBXL4	OMIM:615471
HP:0000366	Abnormality of the nose	6777	STAT5B	OMIM:245590
HP:0000366	Abnormality of the nose	126695	KDF1	OMIM:617337
HP:0000366	Abnormality of the nose	85358	SHANK3	OMIM:606232
HP:0000366	Abnormality of the nose	3339	HSPG2	OMIM:255800
HP:0000366	Abnormality of the nose	10682	EBP	OMIM:302960
HP:0000366	Abnormality of the nose	9839	ZEB2	ORPHA:261552
HP:0000366	Abnormality of the nose	4792	NFKBIA	OMIM:612132
HP:0000366	Abnormality of the nose	182	JAG1	OMIM:118450
HP:0000366	Abnormality of the nose	3559	IL2RA	OMIM:606367
HP:0000366	Abnormality of the nose	2296	FOXC1	OMIM:602482
HP:0000366	Abnormality of the nose	64780	MICAL1	OMIM:600512
HP:0000366	Abnormality of the nose	9211	LGI1	OMIM:600512
HP:0000366	Abnormality of the nose	257	ALX3	OMIM:136760
HP:0000366	Abnormality of the nose	7030	TFE3	OMIM:301066
HP:0000366	Abnormality of the nose	9496	TBX4	ORPHA:261279
HP:0000366	Abnormality of the nose	8092	ALX1	ORPHA:306542
HP:0000366	Abnormality of the nose	81788	NUAK2	OMIM:619452
HP:0000366	Abnormality of the nose	4763	NF1	ORPHA:139474
HP:0000366	Abnormality of the nose	158326	FREM1	ORPHA:217266
HP:0000366	Abnormality of the nose	158326	FREM1	OMIM:608980
HP:0000366	Abnormality of the nose	26012	NSMF	OMIM:614838
HP:0000366	Abnormality of the nose	219844	HYLS1	OMIM:236680
HP:0000366	Abnormality of the nose	8550	MAPKAPK5	OMIM:619869
HP:0000366	Abnormality of the nose	5566	PRKACA	OMIM:619142
HP:0000366	Abnormality of the nose	1822	ATN1	OMIM:618494
HP:0000366	Abnormality of the nose	7043	TGFB3	OMIM:615582
HP:0000366	Abnormality of the nose	1621	DBH	ORPHA:230
HP:0000366	Abnormality of the nose	1991	ELANE	ORPHA:486
HP:0000366	Abnormality of the nose	2672	GFI1	ORPHA:486
HP:0000366	Abnormality of the nose	6729	SRP54	ORPHA:486
HP:0000366	Abnormality of the nose	81570	CLPB	ORPHA:486
HP:0000366	Abnormality of the nose	63035	BCORL1	OMIM:301029
HP:0000366	Abnormality of the nose	51111	KMT5B	OMIM:617788
HP:0000366	Abnormality of the nose	23040	MYT1L	OMIM:616521
HP:0000366	Abnormality of the nose	6134	RPL10	ORPHA:459070
HP:0000366	Abnormality of the nose	23512	SUZ12	OMIM:618786
HP:0000366	Abnormality of the nose	9179	AP4M1	OMIM:612936
HP:0000366	Abnormality of the nose	50940	PDE11A	ORPHA:1359
HP:0000366	Abnormality of the nose	7169	TPM2	OMIM:108120
HP:0000366	Abnormality of the nose	5700	PSMC1	OMIM:620071
HP:0000366	Abnormality of the nose	10801	SEPTIN9	OMIM:162100
HP:0000366	Abnormality of the nose	7317	UBA1	OMIM:301054
HP:0000366	Abnormality of the nose	340061	STING1	OMIM:615934
HP:0000366	Abnormality of the nose	3423	IDS	ORPHA:217085
HP:0000366	Abnormality of the nose	3423	IDS	ORPHA:217093
HP:0000366	Abnormality of the nose	51341	ZBTB7A	OMIM:619769
HP:0000366	Abnormality of the nose	23149	FCHO1	OMIM:619164
HP:0000366	Abnormality of the nose	1956	EGFR	OMIM:616069
HP:0000366	Abnormality of the nose	1893	ECM1	ORPHA:530
HP:0000366	Abnormality of the nose	2947	GSTM3	ORPHA:586
HP:0000366	Abnormality of the nose	7040	TGFB1	ORPHA:586
HP:0000366	Abnormality of the nose	7040	TGFB1	OMIM:219700
HP:0000366	Abnormality of the nose	2729	GCLC	ORPHA:586
HP:0000366	Abnormality of the nose	1084	CEACAM3	ORPHA:586
HP:0000366	Abnormality of the nose	6556	SLC11A1	ORPHA:586
HP:0000366	Abnormality of the nose	51164	DCTN4	ORPHA:586
HP:0000366	Abnormality of the nose	3783	KCNN4	ORPHA:586
HP:0000366	Abnormality of the nose	4282	MIF	ORPHA:586
HP:0000366	Abnormality of the nose	1909	EDNRA	ORPHA:586
HP:0000366	Abnormality of the nose	6550	SLC9A3	ORPHA:586
HP:0000366	Abnormality of the nose	3162	HMOX1	ORPHA:586
HP:0000366	Abnormality of the nose	115019	SLC26A9	ORPHA:586
HP:0000366	Abnormality of the nose	3077	HFE	ORPHA:586
HP:0000366	Abnormality of the nose	11254	SLC6A14	ORPHA:586
HP:0000366	Abnormality of the nose	5265	SERPINA1	ORPHA:586
HP:0000366	Abnormality of the nose	1080	CFTR	ORPHA:586
HP:0000366	Abnormality of the nose	1080	CFTR	OMIM:219700
HP:0000366	Abnormality of the nose	22802	CLCA4	ORPHA:586
HP:0000366	Abnormality of the nose	4680	CEACAM6	ORPHA:586
HP:0000366	Abnormality of the nose	2212	FCGR2A	OMIM:219700
HP:0000366	Abnormality of the nose	30009	TBX21	OMIM:208550
HP:0000366	Abnormality of the nose	5732	PTGER2	OMIM:208550
HP:0000366	Abnormality of the nose	6890	TAP1	OMIM:604571
HP:0000366	Abnormality of the nose	6891	TAP2	OMIM:604571
HP:0000366	Abnormality of the nose	6892	TAPBP	OMIM:604571
HP:0000366	Abnormality of the nose	7157	TP53	OMIM:607107
HP:0000366	Abnormality of the nose	4486	MST1R	OMIM:617075
HP:0000366	Abnormality of the nose	26191	PTPN22	ORPHA:397
HP:0000366	Abnormality of the nose	3106	HLA-B	ORPHA:397
HP:0000366	Abnormality of the nose	3123	HLA-DRB1	ORPHA:397
HP:0000366	Abnormality of the nose	8974	P4HA2	ORPHA:397
HP:0000366	Abnormality of the nose	4791	NFKB2	ORPHA:293978
HP:0000366	Abnormality of the nose	55315	SLC29A3	ORPHA:168569
HP:0000366	Abnormality of the nose	7132	TNFRSF1A	ORPHA:32960
HP:0000366	Abnormality of the nose	331	XIAP	OMIM:308240
HP:0000366	Abnormality of the nose	4068	SH2D1A	OMIM:308240
HP:0000366	Abnormality of the nose	79087	ALG12	ORPHA:79324
HP:0000366	Abnormality of the nose	5896	RAG1	ORPHA:331206
HP:0000366	Abnormality of the nose	5897	RAG2	ORPHA:331206
HP:0000366	Abnormality of the nose	4247	MGAT2	ORPHA:79329
HP:0000366	Abnormality of the nose	8239	USP9X	ORPHA:480880
HP:0000366	Abnormality of the nose	57379	AICDA	OMIM:605258
HP:0000366	Abnormality of the nose	7374	UNG	OMIM:608106
HP:0000366	Abnormality of the nose	6340	SCNN1G	ORPHA:171876
HP:0000366	Abnormality of the nose	6337	SCNN1A	ORPHA:171876
HP:0000366	Abnormality of the nose	6338	SCNN1B	ORPHA:171876
HP:0000366	Abnormality of the nose	29969	MDFIC	OMIM:620014
HP:0000366	Abnormality of the nose	7535	ZAP70	ORPHA:911
HP:0000366	Abnormality of the nose	79633	FAT4	ORPHA:314679
HP:0000366	Abnormality of the nose	8642	DCHS1	ORPHA:314679
HP:0000368	Low-set, posteriorly rotated ears	2737	GLI3	ORPHA:672
HP:0000368	Low-set, posteriorly rotated ears	341640	FREM2	ORPHA:2052
HP:0000368	Low-set, posteriorly rotated ears	80144	FRAS1	ORPHA:2052
HP:0000368	Low-set, posteriorly rotated ears	23426	GRIP1	ORPHA:2052
HP:0000368	Low-set, posteriorly rotated ears	4598	MVK	ORPHA:29
HP:0000368	Low-set, posteriorly rotated ears	23556	PIGN	ORPHA:2059
HP:0000368	Low-set, posteriorly rotated ears	2733	GLE1	ORPHA:1486
HP:0000368	Low-set, posteriorly rotated ears	145173	B3GLCT	ORPHA:709
HP:0000368	Low-set, posteriorly rotated ears	79848	CSPP1	ORPHA:397715
HP:0000368	Low-set, posteriorly rotated ears	79848	CSPP1	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	9786	KIAA0586	ORPHA:397715
HP:0000368	Low-set, posteriorly rotated ears	27125	AFF4	ORPHA:444077
HP:0000368	Low-set, posteriorly rotated ears	7372	UMPS	ORPHA:30
HP:0000368	Low-set, posteriorly rotated ears	388015	RTL1	ORPHA:254525
HP:0000368	Low-set, posteriorly rotated ears	8788	DLK1	ORPHA:254525
HP:0000368	Low-set, posteriorly rotated ears	55384	MEG3	ORPHA:254525
HP:0000368	Low-set, posteriorly rotated ears	23322	RPGRIP1L	ORPHA:220497
HP:0000368	Low-set, posteriorly rotated ears	23322	RPGRIP1L	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	4867	NPHP1	ORPHA:220497
HP:0000368	Low-set, posteriorly rotated ears	4867	NPHP1	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	65062	TMEM237	ORPHA:220497
HP:0000368	Low-set, posteriorly rotated ears	65062	TMEM237	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	65062	TMEM237	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	6905	TBCE	ORPHA:2323
HP:0000368	Low-set, posteriorly rotated ears	126792	B3GALT6	ORPHA:2725
HP:0000368	Low-set, posteriorly rotated ears	72	ACTG2	ORPHA:2604
HP:0000368	Low-set, posteriorly rotated ears	54806	AHI1	ORPHA:220493
HP:0000368	Low-set, posteriorly rotated ears	56623	INPP5E	ORPHA:220493
HP:0000368	Low-set, posteriorly rotated ears	153241	CEP120	ORPHA:220493
HP:0000368	Low-set, posteriorly rotated ears	54903	MKS1	ORPHA:220493
HP:0000368	Low-set, posteriorly rotated ears	54903	MKS1	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	54903	MKS1	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	95681	CEP41	ORPHA:220493
HP:0000368	Low-set, posteriorly rotated ears	1717	DHCR7	ORPHA:818
HP:0000368	Low-set, posteriorly rotated ears	55780	ERMARD	ORPHA:75857
HP:0000368	Low-set, posteriorly rotated ears	55636	CHD7	ORPHA:138
HP:0000368	Low-set, posteriorly rotated ears	9723	SEMA3E	ORPHA:138
HP:0000368	Low-set, posteriorly rotated ears	4952	OCRL	ORPHA:534
HP:0000368	Low-set, posteriorly rotated ears	9382	COG1	ORPHA:263508
HP:0000368	Low-set, posteriorly rotated ears	29957	SLC25A24	ORPHA:2963
HP:0000368	Low-set, posteriorly rotated ears	473	RERE	ORPHA:494344
HP:0000368	Low-set, posteriorly rotated ears	473	RERE	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	6023	RMRP	ORPHA:175
HP:0000368	Low-set, posteriorly rotated ears	3039	HBA1	ORPHA:98791
HP:0000368	Low-set, posteriorly rotated ears	3040	HBA2	ORPHA:98791
HP:0000368	Low-set, posteriorly rotated ears	8925	HERC1	ORPHA:457359
HP:0000368	Low-set, posteriorly rotated ears	113189	CHST14	ORPHA:2953
HP:0000368	Low-set, posteriorly rotated ears	29940	DSE	ORPHA:2953
HP:0000368	Low-set, posteriorly rotated ears	134701	RIPPLY2	ORPHA:2311
HP:0000368	Low-set, posteriorly rotated ears	10683	DLL3	ORPHA:2311
HP:0000368	Low-set, posteriorly rotated ears	3955	LFNG	ORPHA:2311
HP:0000368	Low-set, posteriorly rotated ears	84667	HES7	ORPHA:2311
HP:0000368	Low-set, posteriorly rotated ears	145873	MESP2	ORPHA:2311
HP:0000368	Low-set, posteriorly rotated ears	7994	KAT6A	ORPHA:457193
HP:0000368	Low-set, posteriorly rotated ears	5604	MAP2K1	ORPHA:1340
HP:0000368	Low-set, posteriorly rotated ears	5605	MAP2K2	ORPHA:1340
HP:0000368	Low-set, posteriorly rotated ears	5605	MAP2K2	ORPHA:638
HP:0000368	Low-set, posteriorly rotated ears	3845	KRAS	ORPHA:1340
HP:0000368	Low-set, posteriorly rotated ears	3845	KRAS	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	673	BRAF	ORPHA:1340
HP:0000368	Low-set, posteriorly rotated ears	673	BRAF	ORPHA:500
HP:0000368	Low-set, posteriorly rotated ears	64359	NXN	ORPHA:1507
HP:0000368	Low-set, posteriorly rotated ears	4920	ROR2	ORPHA:1507
HP:0000368	Low-set, posteriorly rotated ears	79583	TMEM231	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	79583	TMEM231	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	51524	TMEM138	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	23090	ZNF423	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	80184	CEP290	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	80184	CEP290	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	80184	CEP290	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	51259	TMEM216	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	51259	TMEM216	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	51259	TMEM216	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	57545	CC2D2A	ORPHA:2318
HP:0000368	Low-set, posteriorly rotated ears	57545	CC2D2A	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	64093	SMOC1	ORPHA:1106
HP:0000368	Low-set, posteriorly rotated ears	8260	NAA10	ORPHA:568
HP:0000368	Low-set, posteriorly rotated ears	54880	BCOR	ORPHA:568
HP:0000368	Low-set, posteriorly rotated ears	3265	HRAS	ORPHA:3071
HP:0000368	Low-set, posteriorly rotated ears	84314	TMEM107	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	26123	TCTN3	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	26123	TCTN3	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	79867	TCTN2	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	80776	B9D2	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	79600	TCTN1	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	57096	RPGRIP1	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	91147	TMEM67	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	79770	TXNDC15	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	27077	B9D1	ORPHA:564
HP:0000368	Low-set, posteriorly rotated ears	171023	ASXL1	ORPHA:97297
HP:0000368	Low-set, posteriorly rotated ears	10815	CPLX1	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	54872	PIGG	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	7469	NELFA	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	1487	CTBP1	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	3954	LETM1	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	7468	NSD2	ORPHA:280
HP:0000368	Low-set, posteriorly rotated ears	9184	BUB3	ORPHA:1052
HP:0000368	Low-set, posteriorly rotated ears	699	BUB1	ORPHA:1052
HP:0000368	Low-set, posteriorly rotated ears	9702	CEP57	ORPHA:1052
HP:0000368	Low-set, posteriorly rotated ears	9319	TRIP13	ORPHA:1052
HP:0000368	Low-set, posteriorly rotated ears	701	BUB1B	ORPHA:1052
HP:0000368	Low-set, posteriorly rotated ears	1501	CTNND2	ORPHA:281
HP:0000368	Low-set, posteriorly rotated ears	9037	SEMA5A	ORPHA:281
HP:0000368	Low-set, posteriorly rotated ears	8036	SHOC2	ORPHA:2701
HP:0000368	Low-set, posteriorly rotated ears	5500	PPP1CB	ORPHA:2701
HP:0000368	Low-set, posteriorly rotated ears	7020	TFAP2A	ORPHA:1297
HP:0000368	Low-set, posteriorly rotated ears	1906	EDN1	ORPHA:137888
HP:0000368	Low-set, posteriorly rotated ears	5332	PLCB4	ORPHA:137888
HP:0000368	Low-set, posteriorly rotated ears	2773	GNAI3	ORPHA:137888
HP:0000368	Low-set, posteriorly rotated ears	10716	TBR1	ORPHA:1617
HP:0000368	Low-set, posteriorly rotated ears	2313	FLI1	ORPHA:2308
HP:0000368	Low-set, posteriorly rotated ears	23476	BRD4	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	9126	SMC3	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	8243	SMC1A	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	25836	NIPBL	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	55869	HDAC8	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	5885	RAD21	ORPHA:199
HP:0000368	Low-set, posteriorly rotated ears	3981	LIG4	ORPHA:235
HP:0000368	Low-set, posteriorly rotated ears	54888	NSUN2	ORPHA:235
HP:0000368	Low-set, posteriorly rotated ears	92482	BBIP1	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	11020	IFT27	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	582	BBS1	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	49855	SCAPER	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	51057	WDPCP	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	27241	BBS9	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	84984	CEP19	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	22954	TRIM32	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	79738	BBS10	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	123016	TTC8	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	26160	IFT172	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	583	BBS2	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	585	BBS4	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	8195	MKKS	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	54585	LZTFL1	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	55212	BBS7	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	166379	BBS12	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	10806	SDCCAG8	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	157657	CFAP418	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	84100	ARL6	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	129880	BBS5	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	80173	IFT74	ORPHA:110
HP:0000368	Low-set, posteriorly rotated ears	5396	PRRX1	ORPHA:990
HP:0000368	Low-set, posteriorly rotated ears	5015	OTX2	ORPHA:990
HP:0000368	Low-set, posteriorly rotated ears	10664	CTCF	ORPHA:363611
HP:0000368	Low-set, posteriorly rotated ears	2629	GBA1	ORPHA:85212
HP:0000368	Low-set, posteriorly rotated ears	8092	ALX1	ORPHA:306542
HP:0000368	Low-set, posteriorly rotated ears	26005	C2CD3	ORPHA:434179
HP:0000368	Low-set, posteriorly rotated ears	998	CDC42	ORPHA:487796
HP:0000368	Low-set, posteriorly rotated ears	10908	PNPLA6	ORPHA:2377
HP:0000368	Low-set, posteriorly rotated ears	8239	USP9X	ORPHA:480880
HP:0000368	Low-set, posteriorly rotated ears	6804	STX1A	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	7461	CLIP2	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	84277	DNAJC30	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	8468	FKBP6	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	5982	RFC2	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	2969	GTF2I	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	3984	LIMK1	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	9569	GTF2IRD1	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	155382	VPS37D	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	155368	METTL27	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	114049	BUD23	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	7458	EIF4H	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	84163	GTF2IRD2	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	9275	BCL7B	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	26608	TBL2	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	653361	NCF1	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	135886	TMEM270	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	51085	MLXIPL	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	9031	BAZ1B	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	2006	ELN	ORPHA:904
HP:0000368	Low-set, posteriorly rotated ears	259232	NALCN	ORPHA:371364
HP:0000368	Low-set, posteriorly rotated ears	285175	UNC80	ORPHA:371364
HP:0000368	Low-set, posteriorly rotated ears	5590	PRKCZ	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	2563	GABRD	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	23013	SPEN	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	8510	MMP23B	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	7798	LUZP1	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	6497	SKI	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	10630	PDPN	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	3339	HSPG2	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	3339	HSPG2	ORPHA:800
HP:0000368	Low-set, posteriorly rotated ears	10277	UBE4B	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	8514	KCNAB2	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	63976	PRDM16	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	54897	CASZ1	ORPHA:1606
HP:0000368	Low-set, posteriorly rotated ears	1836	SLC26A2	ORPHA:628
HP:0000368	Low-set, posteriorly rotated ears	25914	RTTN	ORPHA:468631
HP:0000368	Low-set, posteriorly rotated ears	5781	PTPN11	ORPHA:500
HP:0000368	Low-set, posteriorly rotated ears	5781	PTPN11	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	5894	RAF1	ORPHA:500
HP:0000368	Low-set, posteriorly rotated ears	5894	RAF1	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	2131	EXT1	ORPHA:502
HP:0000368	Low-set, posteriorly rotated ears	7227	TRPS1	ORPHA:502
HP:0000368	Low-set, posteriorly rotated ears	79796	ALG9	ORPHA:79328
HP:0000368	Low-set, posteriorly rotated ears	4247	MGAT2	ORPHA:79329
HP:0000368	Low-set, posteriorly rotated ears	1718	DHCR24	ORPHA:35107
HP:0000368	Low-set, posteriorly rotated ears	9373	PLAA	ORPHA:521426
HP:0000368	Low-set, posteriorly rotated ears	176	ACAN	ORPHA:171866
HP:0000368	Low-set, posteriorly rotated ears	54499	TMCO1	ORPHA:1394
HP:0000368	Low-set, posteriorly rotated ears	57492	ARID1B	ORPHA:251056
HP:0000368	Low-set, posteriorly rotated ears	10743	RAI1	ORPHA:1713
HP:0000368	Low-set, posteriorly rotated ears	8241	RBM10	ORPHA:2886
HP:0000368	Low-set, posteriorly rotated ears	55691	FRMD4A	ORPHA:466688
HP:0000368	Low-set, posteriorly rotated ears	5495	PPM1B	ORPHA:163693
HP:0000368	Low-set, posteriorly rotated ears	6519	SLC3A1	ORPHA:163693
HP:0000368	Low-set, posteriorly rotated ears	9581	PREPL	ORPHA:163693
HP:0000368	Low-set, posteriorly rotated ears	79823	CAMKMT	ORPHA:163693
HP:0000368	Low-set, posteriorly rotated ears	55670	PEX26	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5824	PEX19	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5828	PEX2	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	8504	PEX3	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	9409	PEX16	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5190	PEX6	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	8799	PEX11B	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5830	PEX5	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5189	PEX1	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5193	PEX12	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5194	PEX13	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5195	PEX14	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	5192	PEX10	ORPHA:44
HP:0000368	Low-set, posteriorly rotated ears	2239	GPC4	ORPHA:373
HP:0000368	Low-set, posteriorly rotated ears	2719	GPC3	ORPHA:373
HP:0000368	Low-set, posteriorly rotated ears	59341	TRPV4	ORPHA:2635
HP:0000368	Low-set, posteriorly rotated ears	23483	TGDS	ORPHA:1388
HP:0000368	Low-set, posteriorly rotated ears	22930	RAB3GAP1	ORPHA:1387
HP:0000368	Low-set, posteriorly rotated ears	22930	RAB3GAP1	ORPHA:2510
HP:0000368	Low-set, posteriorly rotated ears	25782	RAB3GAP2	ORPHA:1387
HP:0000368	Low-set, posteriorly rotated ears	25782	RAB3GAP2	ORPHA:2510
HP:0000368	Low-set, posteriorly rotated ears	22800	RRAS2	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	867	CBL	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	8216	LZTR1	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	6016	RIT1	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	6237	RRAS	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	22808	MRAS	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	200734	SPRED2	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	4893	NRAS	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	6654	SOS1	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	6655	SOS2	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	5922	RASA2	ORPHA:648
HP:0000368	Low-set, posteriorly rotated ears	9939	RBM8A	ORPHA:3320
HP:0000368	Low-set, posteriorly rotated ears	10225	CD96	ORPHA:1308
HP:0000368	Low-set, posteriorly rotated ears	83737	ITCH	ORPHA:228426
HP:0000368	Low-set, posteriorly rotated ears	22931	RAB18	ORPHA:2510
HP:0000368	Low-set, posteriorly rotated ears	128637	TBC1D20	ORPHA:2510
HP:0000368	Low-set, posteriorly rotated ears	64131	XYLT1	ORPHA:1425
HP:0000368	Low-set, posteriorly rotated ears	124583	CANT1	ORPHA:1425
HP:0000368	Low-set, posteriorly rotated ears	55790	CSGALNACT1	ORPHA:1425
HP:0000368	Low-set, posteriorly rotated ears	10210	TOPORS	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	9851	KIAA0753	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	5147	PDE6D	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	65250	CPLANE1	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	8481	OFD1	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	317662	FAM149B1	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	374654	KIF7	ORPHA:2754
HP:0000368	Low-set, posteriorly rotated ears	374654	KIF7	ORPHA:2189
HP:0000368	Low-set, posteriorly rotated ears	3239	HOXD13	ORPHA:887
HP:0000368	Low-set, posteriorly rotated ears	2260	FGFR1	ORPHA:2117
HP:0000368	Low-set, posteriorly rotated ears	64324	NSD1	ORPHA:3447
HP:0000368	Low-set, posteriorly rotated ears	8726	EED	ORPHA:3447
HP:0000368	Low-set, posteriorly rotated ears	23512	SUZ12	ORPHA:3447
HP:0000368	Low-set, posteriorly rotated ears	2146	EZH2	ORPHA:3447
HP:0000368	Low-set, posteriorly rotated ears	1723	DHODH	ORPHA:246
HP:0000368	Low-set, posteriorly rotated ears	10262	SF3B4	ORPHA:245
HP:0000368	Low-set, posteriorly rotated ears	257	ALX3	ORPHA:391474
HP:0000368	Low-set, posteriorly rotated ears	203068	TUBB	ORPHA:2505
HP:0000368	Low-set, posteriorly rotated ears	10982	MAPRE2	ORPHA:2505
HP:0000368	Low-set, posteriorly rotated ears	6736	SRY	ORPHA:1772
HP:0000368	Low-set, posteriorly rotated ears	219844	HYLS1	ORPHA:2189
HP:0000368	Low-set, posteriorly rotated ears	2245	FGD1	ORPHA:915
HP:0000368	Low-set, posteriorly rotated ears	4763	NF1	ORPHA:638
HP:0000369	Low-set ears	2737	GLI3	ORPHA:672
HP:0000369	Low-set ears	27125	AFF4	ORPHA:444077
HP:0000369	Low-set ears	7372	UMPS	ORPHA:30
HP:0000369	Low-set ears	388015	RTL1	ORPHA:254525
HP:0000369	Low-set ears	8788	DLK1	ORPHA:254525
HP:0000369	Low-set ears	55384	MEG3	ORPHA:254525
HP:0000369	Low-set ears	4867	NPHP1	ORPHA:220497
HP:0000369	Low-set ears	4867	NPHP1	ORPHA:110
HP:0000369	Low-set ears	72	ACTG2	ORPHA:2604
HP:0000369	Low-set ears	55780	ERMARD	ORPHA:75857
HP:0000369	Low-set ears	9723	SEMA3E	ORPHA:138
HP:0000369	Low-set ears	4952	OCRL	ORPHA:534
HP:0000369	Low-set ears	6023	RMRP	ORPHA:175
HP:0000369	Low-set ears	3039	HBA1	ORPHA:98791
HP:0000369	Low-set ears	3040	HBA2	ORPHA:98791
HP:0000369	Low-set ears	29940	DSE	ORPHA:2953
HP:0000369	Low-set ears	134701	RIPPLY2	ORPHA:2311
HP:0000369	Low-set ears	10683	DLL3	ORPHA:2311
HP:0000369	Low-set ears	3955	LFNG	ORPHA:2311
HP:0000369	Low-set ears	84667	HES7	ORPHA:2311
HP:0000369	Low-set ears	145873	MESP2	ORPHA:2311
HP:0000369	Low-set ears	5605	MAP2K2	ORPHA:1340
HP:0000369	Low-set ears	5605	MAP2K2	ORPHA:638
HP:0000369	Low-set ears	51524	TMEM138	ORPHA:2318
HP:0000369	Low-set ears	23090	ZNF423	ORPHA:2318
HP:0000369	Low-set ears	80184	CEP290	ORPHA:2318
HP:0000369	Low-set ears	80184	CEP290	ORPHA:564
HP:0000369	Low-set ears	80184	CEP290	ORPHA:110
HP:0000369	Low-set ears	57096	RPGRIP1	ORPHA:564
HP:0000369	Low-set ears	10815	CPLX1	ORPHA:280
HP:0000369	Low-set ears	54872	PIGG	ORPHA:280
HP:0000369	Low-set ears	7469	NELFA	ORPHA:280
HP:0000369	Low-set ears	1487	CTBP1	ORPHA:280
HP:0000369	Low-set ears	7468	NSD2	ORPHA:280
HP:0000369	Low-set ears	9184	BUB3	ORPHA:1052
HP:0000369	Low-set ears	699	BUB1	ORPHA:1052
HP:0000369	Low-set ears	1501	CTNND2	ORPHA:281
HP:0000369	Low-set ears	9037	SEMA5A	ORPHA:281
HP:0000369	Low-set ears	1906	EDN1	ORPHA:137888
HP:0000369	Low-set ears	10716	TBR1	ORPHA:1617
HP:0000369	Low-set ears	2313	FLI1	ORPHA:2308
HP:0000369	Low-set ears	23476	BRD4	ORPHA:199
HP:0000369	Low-set ears	9126	SMC3	ORPHA:199
HP:0000369	Low-set ears	8243	SMC1A	ORPHA:199
HP:0000369	Low-set ears	55869	HDAC8	ORPHA:199
HP:0000369	Low-set ears	3981	LIG4	ORPHA:235
HP:0000369	Low-set ears	54888	NSUN2	ORPHA:235
HP:0000369	Low-set ears	92482	BBIP1	ORPHA:110
HP:0000369	Low-set ears	11020	IFT27	ORPHA:110
HP:0000369	Low-set ears	582	BBS1	ORPHA:110
HP:0000369	Low-set ears	49855	SCAPER	ORPHA:110
HP:0000369	Low-set ears	51057	WDPCP	ORPHA:110
HP:0000369	Low-set ears	27241	BBS9	ORPHA:110
HP:0000369	Low-set ears	84984	CEP19	ORPHA:110
HP:0000369	Low-set ears	22954	TRIM32	ORPHA:110
HP:0000369	Low-set ears	79738	BBS10	ORPHA:110
HP:0000369	Low-set ears	123016	TTC8	ORPHA:110
HP:0000369	Low-set ears	26160	IFT172	ORPHA:110
HP:0000369	Low-set ears	583	BBS2	ORPHA:110
HP:0000369	Low-set ears	585	BBS4	ORPHA:110
HP:0000369	Low-set ears	8195	MKKS	ORPHA:110
HP:0000369	Low-set ears	54585	LZTFL1	ORPHA:110
HP:0000369	Low-set ears	55212	BBS7	ORPHA:110
HP:0000369	Low-set ears	166379	BBS12	ORPHA:110
HP:0000369	Low-set ears	10806	SDCCAG8	ORPHA:110
HP:0000369	Low-set ears	157657	CFAP418	ORPHA:110
HP:0000369	Low-set ears	84100	ARL6	ORPHA:110
HP:0000369	Low-set ears	129880	BBS5	ORPHA:110
HP:0000369	Low-set ears	80173	IFT74	ORPHA:110
HP:0000369	Low-set ears	5015	OTX2	ORPHA:990
HP:0000369	Low-set ears	10908	PNPLA6	ORPHA:2377
HP:0000369	Low-set ears	6804	STX1A	ORPHA:904
HP:0000369	Low-set ears	7461	CLIP2	ORPHA:904
HP:0000369	Low-set ears	84277	DNAJC30	ORPHA:904
HP:0000369	Low-set ears	8468	FKBP6	ORPHA:904
HP:0000369	Low-set ears	5982	RFC2	ORPHA:904
HP:0000369	Low-set ears	2969	GTF2I	ORPHA:904
HP:0000369	Low-set ears	3984	LIMK1	ORPHA:904
HP:0000369	Low-set ears	9569	GTF2IRD1	ORPHA:904
HP:0000369	Low-set ears	155382	VPS37D	ORPHA:904
HP:0000369	Low-set ears	155368	METTL27	ORPHA:904
HP:0000369	Low-set ears	114049	BUD23	ORPHA:904
HP:0000369	Low-set ears	7458	EIF4H	ORPHA:904
HP:0000369	Low-set ears	84163	GTF2IRD2	ORPHA:904
HP:0000369	Low-set ears	9275	BCL7B	ORPHA:904
HP:0000369	Low-set ears	26608	TBL2	ORPHA:904
HP:0000369	Low-set ears	653361	NCF1	ORPHA:904
HP:0000369	Low-set ears	135886	TMEM270	ORPHA:904
HP:0000369	Low-set ears	51085	MLXIPL	ORPHA:904
HP:0000369	Low-set ears	9031	BAZ1B	ORPHA:904
HP:0000369	Low-set ears	5590	PRKCZ	ORPHA:1606
HP:0000369	Low-set ears	2563	GABRD	ORPHA:1606
HP:0000369	Low-set ears	8510	MMP23B	ORPHA:1606
HP:0000369	Low-set ears	7798	LUZP1	ORPHA:1606
HP:0000369	Low-set ears	10630	PDPN	ORPHA:1606
HP:0000369	Low-set ears	10277	UBE4B	ORPHA:1606
HP:0000369	Low-set ears	8514	KCNAB2	ORPHA:1606
HP:0000369	Low-set ears	63976	PRDM16	ORPHA:1606
HP:0000369	Low-set ears	54897	CASZ1	ORPHA:1606
HP:0000369	Low-set ears	25914	RTTN	ORPHA:468631
HP:0000369	Low-set ears	2131	EXT1	ORPHA:502
HP:0000369	Low-set ears	7227	TRPS1	ORPHA:502
HP:0000369	Low-set ears	10743	RAI1	ORPHA:1713
HP:0000369	Low-set ears	5495	PPM1B	ORPHA:163693
HP:0000369	Low-set ears	6519	SLC3A1	ORPHA:163693
HP:0000369	Low-set ears	9581	PREPL	ORPHA:163693
HP:0000369	Low-set ears	79823	CAMKMT	ORPHA:163693
HP:0000369	Low-set ears	5824	PEX19	ORPHA:44
HP:0000369	Low-set ears	9409	PEX16	ORPHA:44
HP:0000369	Low-set ears	5190	PEX6	ORPHA:44
HP:0000369	Low-set ears	8799	PEX11B	ORPHA:44
HP:0000369	Low-set ears	5194	PEX13	ORPHA:44
HP:0000369	Low-set ears	5195	PEX14	ORPHA:44
HP:0000369	Low-set ears	2719	GPC3	ORPHA:373
HP:0000369	Low-set ears	59341	TRPV4	ORPHA:2635
HP:0000369	Low-set ears	22800	RRAS2	ORPHA:648
HP:0000369	Low-set ears	6237	RRAS	ORPHA:648
HP:0000369	Low-set ears	6655	SOS2	ORPHA:648
HP:0000369	Low-set ears	5922	RASA2	ORPHA:648
HP:0000369	Low-set ears	9939	RBM8A	ORPHA:3320
HP:0000369	Low-set ears	22931	RAB18	ORPHA:2510
HP:0000369	Low-set ears	128637	TBC1D20	ORPHA:2510
HP:0000369	Low-set ears	64131	XYLT1	ORPHA:1425
HP:0000369	Low-set ears	124583	CANT1	ORPHA:1425
HP:0000369	Low-set ears	55790	CSGALNACT1	ORPHA:1425
HP:0000369	Low-set ears	10210	TOPORS	ORPHA:2754
HP:0000369	Low-set ears	5147	PDE6D	ORPHA:2754
HP:0000369	Low-set ears	317662	FAM149B1	ORPHA:2754
HP:0000369	Low-set ears	3239	HOXD13	ORPHA:887
HP:0000369	Low-set ears	23512	SUZ12	ORPHA:3447
HP:0000369	Low-set ears	2146	EZH2	ORPHA:3447
HP:0000369	Low-set ears	6736	SRY	ORPHA:1772
HP:0000369	Low-set ears	2245	FGD1	ORPHA:915
HP:0000369	Low-set ears	1718	DHCR24	OMIM:602398
HP:0000369	Low-set ears	1718	DHCR24	ORPHA:35107
HP:0000369	Low-set ears	23394	ADNP	ORPHA:404448
HP:0000369	Low-set ears	23394	ADNP	OMIM:615873
HP:0000369	Low-set ears	23019	CNOT1	OMIM:618500
HP:0000369	Low-set ears	23019	CNOT1	ORPHA:556955
HP:0000369	Low-set ears	28981	IFT81	OMIM:617895
HP:0000369	Low-set ears	8216	LZTR1	OMIM:616564
HP:0000369	Low-set ears	8216	LZTR1	OMIM:605275
HP:0000369	Low-set ears	6659	SOX4	OMIM:618506
HP:0000369	Low-set ears	6228	RPS23	OMIM:617412
HP:0000369	Low-set ears	7360	UGP2	OMIM:618744
HP:0000369	Low-set ears	7021	TFAP2B	OMIM:169100
HP:0000369	Low-set ears	51	ACOX1	ORPHA:2971
HP:0000369	Low-set ears	51	ACOX1	OMIM:264470
HP:0000369	Low-set ears	55209	SETD5	ORPHA:404440
HP:0000369	Low-set ears	55209	SETD5	OMIM:615761
HP:0000369	Low-set ears	1836	SLC26A2	ORPHA:56304
HP:0000369	Low-set ears	1836	SLC26A2	ORPHA:93307
HP:0000369	Low-set ears	6662	SOX9	ORPHA:140
HP:0000369	Low-set ears	6662	SOX9	OMIM:114290
HP:0000369	Low-set ears	2073	ERCC5	OMIM:616570
HP:0000369	Low-set ears	9578	CDC42BPB	OMIM:619841
HP:0000369	Low-set ears	80816	ASXL3	OMIM:615485
HP:0000369	Low-set ears	8942	KYNU	OMIM:617661
HP:0000369	Low-set ears	283489	CHAMP1	OMIM:616579
HP:0000369	Low-set ears	27245	AHDC1	ORPHA:412069
HP:0000369	Low-set ears	27245	AHDC1	OMIM:615829
HP:0000369	Low-set ears	23426	GRIP1	OMIM:617667
HP:0000369	Low-set ears	341640	FREM2	OMIM:617666
HP:0000369	Low-set ears	55690	PACS1	OMIM:615009
HP:0000369	Low-set ears	55690	PACS1	ORPHA:329224
HP:0000369	Low-set ears	84520	GON7	OMIM:619603
HP:0000369	Low-set ears	818	CAMK2G	OMIM:618522
HP:0000369	Low-set ears	10606	PAICS	OMIM:619859
HP:0000369	Low-set ears	64359	NXN	OMIM:618529
HP:0000369	Low-set ears	81857	MED25	ORPHA:464738
HP:0000369	Low-set ears	81857	MED25	OMIM:616449
HP:0000369	Low-set ears	55681	SCYL2	OMIM:618766
HP:0000369	Low-set ears	3339	HSPG2	ORPHA:1865
HP:0000369	Low-set ears	3339	HSPG2	OMIM:255800
HP:0000369	Low-set ears	9401	RECQL4	OMIM:218600
HP:0000369	Low-set ears	857	CAV1	OMIM:606721
HP:0000369	Low-set ears	4330	MN1	OMIM:618774
HP:0000369	Low-set ears	26040	SETBP1	OMIM:269150
HP:0000369	Low-set ears	26040	SETBP1	ORPHA:798
HP:0000369	Low-set ears	26040	SETBP1	ORPHA:436151
HP:0000369	Low-set ears	26040	SETBP1	OMIM:616078
HP:0000369	Low-set ears	4247	MGAT2	OMIM:212066
HP:0000369	Low-set ears	2316	FLNA	ORPHA:90652
HP:0000369	Low-set ears	2316	FLNA	OMIM:304120
HP:0000369	Low-set ears	2316	FLNA	OMIM:300244
HP:0000369	Low-set ears	2316	FLNA	OMIM:300048
HP:0000369	Low-set ears	11285	B4GALT7	OMIM:130070
HP:0000369	Low-set ears	2072	ERCC4	OMIM:615272
HP:0000369	Low-set ears	55768	NGLY1	OMIM:615273
HP:0000369	Low-set ears	8493	PPM1D	OMIM:617450
HP:0000369	Low-set ears	26038	CHD5	OMIM:619873
HP:0000369	Low-set ears	6905	TBCE	OMIM:241410
HP:0000369	Low-set ears	23126	POGZ	OMIM:616364
HP:0000369	Low-set ears	8558	CDK10	OMIM:617694
HP:0000369	Low-set ears	51633	OTUD6B	OMIM:617452
HP:0000369	Low-set ears	51633	OTUD6B	ORPHA:505237
HP:0000369	Low-set ears	3845	KRAS	OMIM:615278
HP:0000369	Low-set ears	3845	KRAS	OMIM:609942
HP:0000369	Low-set ears	1909	EDNRA	OMIM:616367
HP:0000369	Low-set ears	5593	PRKG2	OMIM:619636
HP:0000369	Low-set ears	79770	TXNDC15	OMIM:619879
HP:0000369	Low-set ears	5979	RET	ORPHA:1848
HP:0000369	Low-set ears	8516	ITGA8	ORPHA:1848
HP:0000369	Low-set ears	8516	ITGA8	OMIM:191830
HP:0000369	Low-set ears	26281	FGF20	ORPHA:1848
HP:0000369	Low-set ears	2674	GFRA1	ORPHA:1848
HP:0000369	Low-set ears	7484	WNT9B	ORPHA:1848
HP:0000369	Low-set ears	80000	GREB1L	ORPHA:1848
HP:0000369	Low-set ears	2138	EYA1	OMIM:602588
HP:0000369	Low-set ears	253959	RALGAPA1	OMIM:618797
HP:0000369	Low-set ears	56098	PCDHGC4	OMIM:619880
HP:0000369	Low-set ears	9772	TMEM94	OMIM:618316
HP:0000369	Low-set ears	56975	FAM20C	ORPHA:1832
HP:0000369	Low-set ears	56975	FAM20C	OMIM:259775
HP:0000369	Low-set ears	3930	LBR	OMIM:215140
HP:0000369	Low-set ears	23007	PLCH1	OMIM:619895
HP:0000369	Low-set ears	23483	TGDS	OMIM:616145
HP:0000369	Low-set ears	6603	SMARCD2	OMIM:617475
HP:0000369	Low-set ears	2260	FGFR1	OMIM:166250
HP:0000369	Low-set ears	2260	FGFR1	ORPHA:93258
HP:0000369	Low-set ears	2260	FGFR1	OMIM:615465
HP:0000369	Low-set ears	54916	TMEM260	OMIM:617478
HP:0000369	Low-set ears	25836	NIPBL	OMIM:122470
HP:0000369	Low-set ears	23499	MACF1	OMIM:618325
HP:0000369	Low-set ears	4087	SMAD2	OMIM:619657
HP:0000369	Low-set ears	6135	RPL11	ORPHA:124
HP:0000369	Low-set ears	6138	RPL15	ORPHA:124
HP:0000369	Low-set ears	6229	RPS24	ORPHA:124
HP:0000369	Low-set ears	6125	RPL5	ORPHA:124
HP:0000369	Low-set ears	6204	RPS10	ORPHA:124
HP:0000369	Low-set ears	6224	RPS20	ORPHA:124
HP:0000369	Low-set ears	6165	RPL35A	ORPHA:124
HP:0000369	Low-set ears	6165	RPL35A	OMIM:612528
HP:0000369	Low-set ears	2623	GATA1	ORPHA:124
HP:0000369	Low-set ears	6223	RPS19	ORPHA:124
HP:0000369	Low-set ears	6232	RPS27	ORPHA:124
HP:0000369	Low-set ears	6231	RPS26	ORPHA:124
HP:0000369	Low-set ears	6231	RPS26	OMIM:613309
HP:0000369	Low-set ears	11224	RPL35	ORPHA:124
HP:0000369	Low-set ears	6160	RPL31	ORPHA:124
HP:0000369	Low-set ears	6218	RPS17	ORPHA:124
HP:0000369	Low-set ears	6201	RPS7	ORPHA:124
HP:0000369	Low-set ears	6155	RPL27	ORPHA:124
HP:0000369	Low-set ears	6154	RPL26	ORPHA:124
HP:0000369	Low-set ears	6210	RPS15A	ORPHA:124
HP:0000369	Low-set ears	90121	TSR2	ORPHA:124
HP:0000369	Low-set ears	6141	RPL18	ORPHA:124
HP:0000369	Low-set ears	6235	RPS29	ORPHA:124
HP:0000369	Low-set ears	6234	RPS28	ORPHA:124
HP:0000369	Low-set ears	51816	ADA2	ORPHA:124
HP:0000369	Low-set ears	404672	GTF2H5	OMIM:616395
HP:0000369	Low-set ears	1387	CREBBP	OMIM:618332
HP:0000369	Low-set ears	1387	CREBBP	OMIM:180849
HP:0000369	Low-set ears	1387	CREBBP	ORPHA:353277
HP:0000369	Low-set ears	1917	EEF1A2	OMIM:616393
HP:0000369	Low-set ears	9742	IFT140	OMIM:266920
HP:0000369	Low-set ears	54101	RIPK4	OMIM:263650
HP:0000369	Low-set ears	60529	ALX4	ORPHA:228390
HP:0000369	Low-set ears	60529	ALX4	OMIM:613451
HP:0000369	Low-set ears	26173	INTS1	OMIM:618571
HP:0000369	Low-set ears	256297	PTF1A	ORPHA:65288
HP:0000369	Low-set ears	256297	PTF1A	OMIM:609069
HP:0000369	Low-set ears	1523	CUX1	OMIM:618330
HP:0000369	Low-set ears	4212	MEIS2	ORPHA:261190
HP:0000369	Low-set ears	4212	MEIS2	OMIM:600987
HP:0000369	Low-set ears	5426	POLE	OMIM:618336
HP:0000369	Low-set ears	5426	POLE	ORPHA:85173
HP:0000369	Low-set ears	5081	PAX7	OMIM:618578
HP:0000369	Low-set ears	1642	DDB1	OMIM:619426
HP:0000369	Low-set ears	5813	PURA	ORPHA:314655
HP:0000369	Low-set ears	64132	XYLT2	OMIM:605822
HP:0000369	Low-set ears	64132	XYLT2	ORPHA:85194
HP:0000369	Low-set ears	7291	TWIST1	ORPHA:794
HP:0000369	Low-set ears	7291	TWIST1	OMIM:101400
HP:0000369	Low-set ears	7291	TWIST1	OMIM:617746
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:794
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:93260
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:93258
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:93259
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:2363
HP:0000369	Low-set ears	2263	FGFR2	OMIM:614592
HP:0000369	Low-set ears	2263	FGFR2	OMIM:101400
HP:0000369	Low-set ears	2263	FGFR2	ORPHA:313855
HP:0000369	Low-set ears	2261	FGFR3	ORPHA:794
HP:0000369	Low-set ears	2261	FGFR3	ORPHA:2363
HP:0000369	Low-set ears	9488	PIGB	OMIM:618580
HP:0000369	Low-set ears	51574	LARP7	OMIM:615071
HP:0000369	Low-set ears	51574	LARP7	ORPHA:319671
HP:0000369	Low-set ears	8925	HERC1	OMIM:617011
HP:0000369	Low-set ears	2187	FANCB	OMIM:300514
HP:0000369	Low-set ears	8473	OGT	OMIM:300997
HP:0000369	Low-set ears	54517	PUS7	OMIM:618342
HP:0000369	Low-set ears	5396	PRRX1	OMIM:202650
HP:0000369	Low-set ears	51259	TMEM216	OMIM:608091
HP:0000369	Low-set ears	56623	INPP5E	OMIM:213300
HP:0000369	Low-set ears	56623	INPP5E	ORPHA:1454
HP:0000369	Low-set ears	56623	INPP5E	ORPHA:475
HP:0000369	Low-set ears	4703	NEB	OMIM:256030
HP:0000369	Low-set ears	4703	NEB	ORPHA:171433
HP:0000369	Low-set ears	4703	NEB	ORPHA:171430
HP:0000369	Low-set ears	2200	FBN1	ORPHA:284979
HP:0000369	Low-set ears	2200	FBN1	ORPHA:2462
HP:0000369	Low-set ears	56945	MRPS22	OMIM:611719
HP:0000369	Low-set ears	128869	PIGU	OMIM:618590
HP:0000369	Low-set ears	7707	ZNF148	OMIM:617260
HP:0000369	Low-set ears	2972	BRF1	ORPHA:444072
HP:0000369	Low-set ears	2972	BRF1	OMIM:616202
HP:0000369	Low-set ears	91754	NEK9	OMIM:617022
HP:0000369	Low-set ears	6647	SOD1	OMIM:618598
HP:0000369	Low-set ears	5649	RELN	ORPHA:89844
HP:0000369	Low-set ears	10300	KATNB1	ORPHA:89844
HP:0000369	Low-set ears	54820	NDE1	ORPHA:89844
HP:0000369	Low-set ears	6492	SIM1	ORPHA:171829
HP:0000369	Low-set ears	114803	MYSM1	OMIM:618116
HP:0000369	Low-set ears	176	ACAN	OMIM:612813
HP:0000369	Low-set ears	51114	ZDHHC9	ORPHA:776
HP:0000369	Low-set ears	65109	UPF3B	ORPHA:776
HP:0000369	Low-set ears	9968	MED12	ORPHA:776
HP:0000369	Low-set ears	9968	MED12	OMIM:309520
HP:0000369	Low-set ears	9968	MED12	OMIM:300895
HP:0000369	Low-set ears	29954	POMT2	OMIM:236670
HP:0000369	Low-set ears	29954	POMT2	ORPHA:899
HP:0000369	Low-set ears	9215	LARGE1	OMIM:236670
HP:0000369	Low-set ears	9215	LARGE1	ORPHA:899
HP:0000369	Low-set ears	79147	FKRP	OMIM:236670
HP:0000369	Low-set ears	79147	FKRP	ORPHA:899
HP:0000369	Low-set ears	10585	POMT1	OMIM:236670
HP:0000369	Low-set ears	10585	POMT1	ORPHA:899
HP:0000369	Low-set ears	2218	FKTN	OMIM:236670
HP:0000369	Low-set ears	2218	FKTN	ORPHA:899
HP:0000369	Low-set ears	55777	MBD5	OMIM:156200
HP:0000369	Low-set ears	4784	NFIX	OMIM:602535
HP:0000369	Low-set ears	4784	NFIX	ORPHA:447980
HP:0000369	Low-set ears	22930	RAB3GAP1	OMIM:600118
HP:0000369	Low-set ears	4998	ORC1	OMIM:224690
HP:0000369	Low-set ears	4998	ORC1	ORPHA:2554
HP:0000369	Low-set ears	3756	KCNH1	OMIM:135500
HP:0000369	Low-set ears	3643	INSR	OMIM:246200
HP:0000369	Low-set ears	3643	INSR	ORPHA:508
HP:0000369	Low-set ears	1312	COMT	ORPHA:567
HP:0000369	Low-set ears	221037	JMJD1C	ORPHA:567
HP:0000369	Low-set ears	2812	GP1BB	ORPHA:567
HP:0000369	Low-set ears	6239	RREB1	ORPHA:567
HP:0000369	Low-set ears	6899	TBX1	ORPHA:567
HP:0000369	Low-set ears	6899	TBX1	OMIM:188400
HP:0000369	Low-set ears	7290	HIRA	ORPHA:567
HP:0000369	Low-set ears	9632	SEC24C	ORPHA:567
HP:0000369	Low-set ears	7353	UFD1	ORPHA:567
HP:0000369	Low-set ears	421	ARVCF	ORPHA:567
HP:0000369	Low-set ears	1009	CDH11	OMIM:211380
HP:0000369	Low-set ears	7703	PCGF2	OMIM:618371
HP:0000369	Low-set ears	23111	SPART	ORPHA:101000
HP:0000369	Low-set ears	63931	MRPS14	OMIM:618378
HP:0000369	Low-set ears	4613	MYCN	OMIM:164280
HP:0000369	Low-set ears	51729	WBP11	OMIM:619227
HP:0000369	Low-set ears	4763	NF1	ORPHA:97685
HP:0000369	Low-set ears	4763	NF1	OMIM:193520
HP:0000369	Low-set ears	4763	NF1	OMIM:601321
HP:0000369	Low-set ears	50801	KCNK4	OMIM:618381
HP:0000369	Low-set ears	8943	AP3D1	OMIM:617050
HP:0000369	Low-set ears	9851	KIAA0753	OMIM:619476
HP:0000369	Low-set ears	9851	KIAA0753	OMIM:619479
HP:0000369	Low-set ears	9851	KIAA0753	OMIM:617127
HP:0000369	Low-set ears	5913	RAPSN	OMIM:618388
HP:0000369	Low-set ears	8812	CCNK	OMIM:618147
HP:0000369	Low-set ears	65250	CPLANE1	OMIM:277170
HP:0000369	Low-set ears	65250	CPLANE1	ORPHA:475
HP:0000369	Low-set ears	10526	IPO8	OMIM:619472
HP:0000369	Low-set ears	64840	PORCN	ORPHA:2092
HP:0000369	Low-set ears	64840	PORCN	OMIM:305600
HP:0000369	Low-set ears	348180	CTU2	OMIM:618142
HP:0000369	Low-set ears	92002	CCNQ	OMIM:300707
HP:0000369	Low-set ears	10283	CWC27	ORPHA:166035
HP:0000369	Low-set ears	10283	CWC27	OMIM:250410
HP:0000369	Low-set ears	5728	PTEN	ORPHA:744
HP:0000369	Low-set ears	5728	PTEN	ORPHA:79076
HP:0000369	Low-set ears	207	AKT1	ORPHA:744
HP:0000369	Low-set ears	11198	SUPT16H	OMIM:619480
HP:0000369	Low-set ears	10682	EBP	OMIM:300960
HP:0000369	Low-set ears	10682	EBP	ORPHA:401973
HP:0000369	Low-set ears	10682	EBP	ORPHA:35173
HP:0000369	Low-set ears	4927	NUP88	OMIM:618393
HP:0000369	Low-set ears	1457	CSNK2A1	OMIM:617062
HP:0000369	Low-set ears	3636	INPPL1	OMIM:258480
HP:0000369	Low-set ears	2222	FDFT1	OMIM:618156
HP:0000369	Low-set ears	203068	TUBB	OMIM:156610
HP:0000369	Low-set ears	6872	TAF1	OMIM:300966
HP:0000369	Low-set ears	6872	TAF1	ORPHA:480907
HP:0000369	Low-set ears	8567	MADD	OMIM:619004
HP:0000369	Low-set ears	374879	ZNF699	OMIM:619488
HP:0000369	Low-set ears	8239	USP9X	OMIM:300968
HP:0000369	Low-set ears	8239	USP9X	ORPHA:480880
HP:0000369	Low-set ears	8318	CDC45	OMIM:617063
HP:0000369	Low-set ears	8318	CDC45	ORPHA:2554
HP:0000369	Low-set ears	91875	TTC5	OMIM:619244
HP:0000369	Low-set ears	2799	GNS	OMIM:252940
HP:0000369	Low-set ears	673	BRAF	OMIM:613707
HP:0000369	Low-set ears	673	BRAF	OMIM:613706
HP:0000369	Low-set ears	673	BRAF	OMIM:115150
HP:0000369	Low-set ears	673	BRAF	OMIM:163950
HP:0000369	Low-set ears	199221	DZIP1L	ORPHA:731
HP:0000369	Low-set ears	5314	PKHD1	ORPHA:731
HP:0000369	Low-set ears	7169	TPM2	OMIM:108120
HP:0000369	Low-set ears	403	ARL3	OMIM:618161
HP:0000369	Low-set ears	403	ARL3	ORPHA:475
HP:0000369	Low-set ears	80267	EDEM3	OMIM:619493
HP:0000369	Low-set ears	84231	TRAF7	OMIM:618164
HP:0000369	Low-set ears	89970	RSPRY1	ORPHA:457395
HP:0000369	Low-set ears	89970	RSPRY1	OMIM:616723
HP:0000369	Low-set ears	51360	MBTPS2	ORPHA:85284
HP:0000369	Low-set ears	5557	PRIM1	OMIM:620005
HP:0000369	Low-set ears	10020	GNE	ORPHA:3166
HP:0000369	Low-set ears	10020	GNE	OMIM:269921
HP:0000369	Low-set ears	84081	NSRP1	OMIM:620001
HP:0000369	Low-set ears	219844	HYLS1	OMIM:236680
HP:0000369	Low-set ears	219844	HYLS1	ORPHA:475
HP:0000369	Low-set ears	219844	HYLS1	ORPHA:2189
HP:0000369	Low-set ears	7474	WNT5A	OMIM:180700
HP:0000369	Low-set ears	7474	WNT5A	ORPHA:3107
HP:0000369	Low-set ears	1855	DVL1	OMIM:180700
HP:0000369	Low-set ears	1855	DVL1	ORPHA:3107
HP:0000369	Low-set ears	9897	WASHC5	ORPHA:7
HP:0000369	Low-set ears	9897	WASHC5	OMIM:220210
HP:0000369	Low-set ears	28952	CCDC22	ORPHA:7
HP:0000369	Low-set ears	51626	DYNC2LI1	OMIM:617088
HP:0000369	Low-set ears	55181	SMG8	OMIM:619268
HP:0000369	Low-set ears	118429	ANTXR2	OMIM:228600
HP:0000369	Low-set ears	4921	DDR2	OMIM:618175
HP:0000369	Low-set ears	51109	RDH11	ORPHA:436245
HP:0000369	Low-set ears	84168	ANTXR1	ORPHA:2067
HP:0000369	Low-set ears	27445	PCLO	OMIM:608027
HP:0000369	Low-set ears	25886	POC1A	OMIM:614813
HP:0000369	Low-set ears	8085	KMT2D	OMIM:147920
HP:0000369	Low-set ears	8085	KMT2D	OMIM:620186
HP:0000369	Low-set ears	7403	KDM6A	OMIM:147920
HP:0000369	Low-set ears	7403	KDM6A	OMIM:300867
HP:0000369	Low-set ears	168667	BMPER	OMIM:608022
HP:0000369	Low-set ears	2294	FOXF1	OMIM:265380
HP:0000369	Low-set ears	5393	EXOSC9	OMIM:618065
HP:0000369	Low-set ears	26128	KIFBP	OMIM:609460
HP:0000369	Low-set ears	161742	SPRED1	OMIM:611431
HP:0000369	Low-set ears	5885	RAD21	OMIM:614701
HP:0000369	Low-set ears	57539	WDR35	OMIM:613610
HP:0000369	Low-set ears	781	CACNA2D1	OMIM:620149
HP:0000369	Low-set ears	80144	FRAS1	OMIM:219000
HP:0000369	Low-set ears	5447	POR	ORPHA:95699
HP:0000369	Low-set ears	5447	POR	OMIM:201750
HP:0000369	Low-set ears	89910	UBE3B	OMIM:244450
HP:0000369	Low-set ears	51506	UFC1	OMIM:618076
HP:0000369	Low-set ears	4010	LMX1B	ORPHA:495818
HP:0000369	Low-set ears	6812	STXBP1	ORPHA:495818
HP:0000369	Low-set ears	55788	LMBRD1	OMIM:277380
HP:0000369	Low-set ears	10225	CD96	OMIM:211750
HP:0000369	Low-set ears	26153	KIF26A	OMIM:620156
HP:0000369	Low-set ears	9382	COG1	OMIM:611209
HP:0000369	Low-set ears	1301	COL11A1	OMIM:154780
HP:0000369	Low-set ears	1301	COL11A1	OMIM:228520
HP:0000369	Low-set ears	1301	COL11A1	ORPHA:2021
HP:0000369	Low-set ears	56992	KIF15	ORPHA:261323
HP:0000369	Low-set ears	64324	NSD1	OMIM:117550
HP:0000369	Low-set ears	80204	FBXO11	OMIM:618089
HP:0000369	Low-set ears	5119	CHMP1A	OMIM:614961
HP:0000369	Low-set ears	1801	DPH1	OMIM:616901
HP:0000369	Low-set ears	1801	DPH1	ORPHA:459061
HP:0000369	Low-set ears	55858	TMEM165	OMIM:614727
HP:0000369	Low-set ears	114034	TOE1	OMIM:614969
HP:0000369	Low-set ears	1509	CTSD	OMIM:610127
HP:0000369	Low-set ears	23325	WASHC4	OMIM:615817
HP:0000369	Low-set ears	23116	TOGARAM1	OMIM:619185
HP:0000369	Low-set ears	23116	TOGARAM1	ORPHA:475
HP:0000369	Low-set ears	9896	FIG4	ORPHA:3472
HP:0000369	Low-set ears	9896	FIG4	OMIM:216340
HP:0000369	Low-set ears	55697	VAC14	ORPHA:3472
HP:0000369	Low-set ears	23036	ZNF292	OMIM:619188
HP:0000369	Low-set ears	6885	MAP3K7	OMIM:157800
HP:0000369	Low-set ears	6885	MAP3K7	OMIM:617137
HP:0000369	Low-set ears	55148	UBR7	OMIM:619189
HP:0000369	Low-set ears	23545	ATP6V0A2	OMIM:278250
HP:0000369	Low-set ears	23545	ATP6V0A2	OMIM:219200
HP:0000369	Low-set ears	23545	ATP6V0A2	ORPHA:2834
HP:0000369	Low-set ears	23545	ATP6V0A2	ORPHA:357074
HP:0000369	Low-set ears	1954	MEGF8	OMIM:614976
HP:0000369	Low-set ears	23314	SATB2	OMIM:612313
HP:0000369	Low-set ears	23314	SATB2	ORPHA:251028
HP:0000369	Low-set ears	23314	SATB2	ORPHA:251019
HP:0000369	Low-set ears	79867	TCTN2	OMIM:613885
HP:0000369	Low-set ears	79867	TCTN2	ORPHA:475
HP:0000369	Low-set ears	4598	MVK	OMIM:610377
HP:0000369	Low-set ears	55636	CHD7	OMIM:214800
HP:0000369	Low-set ears	1028	CDKN1C	OMIM:614732
HP:0000369	Low-set ears	1028	CDKN1C	ORPHA:85173
HP:0000369	Low-set ears	1028	CDKN1C	ORPHA:397590
HP:0000369	Low-set ears	63894	VIPAS39	OMIM:613404
HP:0000369	Low-set ears	83879	CDCA7	OMIM:616910
HP:0000369	Low-set ears	83879	CDCA7	ORPHA:2268
HP:0000369	Low-set ears	79053	ALG8	OMIM:608104
HP:0000369	Low-set ears	79053	ALG8	ORPHA:79325
HP:0000369	Low-set ears	54084	TSPEAR	OMIM:620173
HP:0000369	Low-set ears	9653	HS2ST1	OMIM:619194
HP:0000369	Low-set ears	10801	SEPTIN9	OMIM:162100
HP:0000369	Low-set ears	1280	COL2A1	OMIM:151210
HP:0000369	Low-set ears	1280	COL2A1	ORPHA:85166
HP:0000369	Low-set ears	4593	MUSK	OMIM:208150
HP:0000369	Low-set ears	56006	SMG9	OMIM:616920
HP:0000369	Low-set ears	9508	ADAMTS3	ORPHA:2136
HP:0000369	Low-set ears	147372	CCBE1	ORPHA:2136
HP:0000369	Low-set ears	147372	CCBE1	OMIM:235510
HP:0000369	Low-set ears	79633	FAT4	ORPHA:2136
HP:0000369	Low-set ears	26053	AUTS2	OMIM:615834
HP:0000369	Low-set ears	26053	AUTS2	ORPHA:352490
HP:0000369	Low-set ears	10013	HDAC6	ORPHA:163966
HP:0000369	Low-set ears	10013	HDAC6	OMIM:300863
HP:0000369	Low-set ears	3211	HOXB1	OMIM:614744
HP:0000369	Low-set ears	54499	TMCO1	OMIM:213980
HP:0000369	Low-set ears	11128	POLR3A	OMIM:264090
HP:0000369	Low-set ears	11128	POLR3A	ORPHA:3455
HP:0000369	Low-set ears	23137	SMC5	OMIM:620185
HP:0000369	Low-set ears	4036	LRP2	OMIM:222448
HP:0000369	Low-set ears	4094	MAF	ORPHA:1272
HP:0000369	Low-set ears	4094	MAF	OMIM:601088
HP:0000369	Low-set ears	23522	KAT6B	ORPHA:85201
HP:0000369	Low-set ears	23522	KAT6B	OMIM:603736
HP:0000369	Low-set ears	23522	KAT6B	ORPHA:3047
HP:0000369	Low-set ears	23261	CAMTA1	OMIM:614756
HP:0000369	Low-set ears	8481	OFD1	OMIM:311200
HP:0000369	Low-set ears	8481	OFD1	OMIM:300804
HP:0000369	Low-set ears	8481	OFD1	OMIM:300209
HP:0000369	Low-set ears	182	JAG1	OMIM:118450
HP:0000369	Low-set ears	10472	ZBTB18	OMIM:612337
HP:0000369	Low-set ears	10472	ZBTB18	ORPHA:36367
HP:0000369	Low-set ears	2255	FGF10	ORPHA:2363
HP:0000369	Low-set ears	158	ADSL	ORPHA:46
HP:0000369	Low-set ears	158	ADSL	OMIM:103050
HP:0000369	Low-set ears	9652	SKIC3	OMIM:222470
HP:0000369	Low-set ears	546	ATRX	OMIM:309580
HP:0000369	Low-set ears	546	ATRX	OMIM:301040
HP:0000369	Low-set ears	55835	CENPJ	OMIM:613676
HP:0000369	Low-set ears	64116	SLC39A8	ORPHA:468699
HP:0000369	Low-set ears	3166	HMX1	OMIM:612109
HP:0000369	Low-set ears	6509	SLC1A4	ORPHA:447997
HP:0000369	Low-set ears	701	BUB1B	OMIM:257300
HP:0000369	Low-set ears	171023	ASXL1	OMIM:605039
HP:0000369	Low-set ears	4208	MEF2C	OMIM:613443
HP:0000369	Low-set ears	22907	DHX30	OMIM:617804
HP:0000369	Low-set ears	7407	VARS1	OMIM:617802
HP:0000369	Low-set ears	6664	SOX11	OMIM:615866
HP:0000369	Low-set ears	196528	ARID2	OMIM:617808
HP:0000369	Low-set ears	10535	RNASEH2A	ORPHA:51
HP:0000369	Low-set ears	10535	RNASEH2A	OMIM:610333
HP:0000369	Low-set ears	84153	RNASEH2C	ORPHA:51
HP:0000369	Low-set ears	25939	SAMHD1	ORPHA:51
HP:0000369	Low-set ears	79621	RNASEH2B	ORPHA:51
HP:0000369	Low-set ears	103	ADAR	ORPHA:51
HP:0000369	Low-set ears	11277	TREX1	ORPHA:51
HP:0000369	Low-set ears	100147744	RNU7-1	ORPHA:51
HP:0000369	Low-set ears	134353	LSM11	ORPHA:51
HP:0000369	Low-set ears	64135	IFIH1	ORPHA:51
HP:0000369	Low-set ears	26123	TCTN3	OMIM:258860
HP:0000369	Low-set ears	26123	TCTN3	ORPHA:2753
HP:0000369	Low-set ears	10075	HUWE1	OMIM:309590
HP:0000369	Low-set ears	10159	ATP6AP2	OMIM:301045
HP:0000369	Low-set ears	55906	ZC4H2	OMIM:301041
HP:0000369	Low-set ears	55906	ZC4H2	OMIM:314580
HP:0000369	Low-set ears	91949	COG7	OMIM:608779
HP:0000369	Low-set ears	10735	STAG2	OMIM:301043
HP:0000369	Low-set ears	10735	STAG2	OMIM:301022
HP:0000369	Low-set ears	27238	GPKOW	ORPHA:2570
HP:0000369	Low-set ears	22856	CHSY1	ORPHA:363417
HP:0000369	Low-set ears	1305	COL13A1	OMIM:616720
HP:0000369	Low-set ears	1305	COL13A1	ORPHA:98914
HP:0000369	Low-set ears	8092	ALX1	OMIM:613456
HP:0000369	Low-set ears	79796	ALG9	OMIM:608776
HP:0000369	Low-set ears	79796	ALG9	ORPHA:79328
HP:0000369	Low-set ears	79796	ALG9	OMIM:263210
HP:0000369	Low-set ears	55593	OTUD5	OMIM:301056
HP:0000369	Low-set ears	4854	NOTCH3	OMIM:130720
HP:0000369	Low-set ears	4854	NOTCH3	ORPHA:2789
HP:0000369	Low-set ears	84162	BLTP1	OMIM:617822
HP:0000369	Low-set ears	473	RERE	OMIM:616975
HP:0000369	Low-set ears	4893	NRAS	OMIM:613224
HP:0000369	Low-set ears	83479	DDX59	OMIM:174300
HP:0000369	Low-set ears	169792	GLIS3	OMIM:610199
HP:0000369	Low-set ears	998	CDC42	OMIM:616737
HP:0000369	Low-set ears	79644	SRD5A3	OMIM:612379
HP:0000369	Low-set ears	10982	MAPRE2	OMIM:616734
HP:0000369	Low-set ears	7547	ZIC3	OMIM:306955
HP:0000369	Low-set ears	90161	HS6ST2	OMIM:301025
HP:0000369	Low-set ears	2239	GPC4	OMIM:301026
HP:0000369	Low-set ears	57211	ADGRG6	OMIM:616503
HP:0000369	Low-set ears	259232	NALCN	OMIM:615419
HP:0000369	Low-set ears	3759	KCNJ2	OMIM:170390
HP:0000369	Low-set ears	3759	KCNJ2	ORPHA:37553
HP:0000369	Low-set ears	81620	CDT1	ORPHA:2554
HP:0000369	Low-set ears	81620	CDT1	OMIM:613804
HP:0000369	Low-set ears	5000	ORC4	ORPHA:2554
HP:0000369	Low-set ears	23594	ORC6	ORPHA:2554
HP:0000369	Low-set ears	23594	ORC6	OMIM:613803
HP:0000369	Low-set ears	990	CDC6	ORPHA:2554
HP:0000369	Low-set ears	990	CDC6	OMIM:613805
HP:0000369	Low-set ears	51053	GMNN	ORPHA:2554
HP:0000369	Low-set ears	1000	CDH2	OMIM:618929
HP:0000369	Low-set ears	55764	IFT122	OMIM:218330
HP:0000369	Low-set ears	10943	MSL3	OMIM:301032
HP:0000369	Low-set ears	5745	PTH1R	ORPHA:50945
HP:0000369	Low-set ears	8985	PLOD3	OMIM:612394
HP:0000369	Low-set ears	545	ATR	OMIM:210600
HP:0000369	Low-set ears	91147	TMEM67	ORPHA:1454
HP:0000369	Low-set ears	91147	TMEM67	ORPHA:475
HP:0000369	Low-set ears	23322	RPGRIP1L	ORPHA:1454
HP:0000369	Low-set ears	57545	CC2D2A	ORPHA:1454
HP:0000369	Low-set ears	55969	RAB5IF	OMIM:616994
HP:0000369	Low-set ears	139285	AMER1	ORPHA:2780
HP:0000369	Low-set ears	139285	AMER1	OMIM:300373
HP:0000369	Low-set ears	9343	EFTUD2	ORPHA:79113
HP:0000369	Low-set ears	9343	EFTUD2	OMIM:610536
HP:0000369	Low-set ears	158326	FREM1	OMIM:608980
HP:0000369	Low-set ears	4758	NEU1	ORPHA:93400
HP:0000369	Low-set ears	4758	NEU1	ORPHA:93399
HP:0000369	Low-set ears	60	ACTB	OMIM:243310
HP:0000369	Low-set ears	8929	PHOX2B	OMIM:209880
HP:0000369	Low-set ears	117581	TWIST2	OMIM:209885
HP:0000369	Low-set ears	117581	TWIST2	OMIM:200110
HP:0000369	Low-set ears	284252	KCTD1	OMIM:181270
HP:0000369	Low-set ears	55617	TASP1	OMIM:618950
HP:0000369	Low-set ears	6182	MRPL12	OMIM:618951
HP:0000369	Low-set ears	9702	CEP57	OMIM:614114
HP:0000369	Low-set ears	28957	MRPS28	OMIM:618958
HP:0000369	Low-set ears	60482	SLC5A7	ORPHA:98914
HP:0000369	Low-set ears	4649	MYO9A	ORPHA:98914
HP:0000369	Low-set ears	1103	CHAT	ORPHA:98914
HP:0000369	Low-set ears	6576	SLC25A1	ORPHA:98914
HP:0000369	Low-set ears	6843	VAMP1	ORPHA:98914
HP:0000369	Low-set ears	375790	AGRN	ORPHA:98914
HP:0000369	Low-set ears	127833	SYT2	ORPHA:98914
HP:0000369	Low-set ears	6572	SLC18A3	ORPHA:98914
HP:0000369	Low-set ears	6616	SNAP25	ORPHA:98914
HP:0000369	Low-set ears	84628	NTNG2	OMIM:618718
HP:0000369	Low-set ears	113246	C12orf57	OMIM:218340
HP:0000369	Low-set ears	9321	TRIP11	OMIM:200600
HP:0000369	Low-set ears	6651	SON	ORPHA:500150
HP:0000369	Low-set ears	6651	SON	OMIM:617140
HP:0000369	Low-set ears	9786	KIAA0586	OMIM:616546
HP:0000369	Low-set ears	9786	KIAA0586	ORPHA:397715
HP:0000369	Low-set ears	9786	KIAA0586	ORPHA:475
HP:0000369	Low-set ears	650	BMP2	OMIM:617877
HP:0000369	Low-set ears	1748	DLX4	OMIM:616788
HP:0000369	Low-set ears	4000	LMNA	ORPHA:1662
HP:0000369	Low-set ears	10269	ZMPSTE24	ORPHA:1662
HP:0000369	Low-set ears	10269	ZMPSTE24	OMIM:275210
HP:0000369	Low-set ears	84700	MYO18B	OMIM:616549
HP:0000369	Low-set ears	23389	MED13L	OMIM:616789
HP:0000369	Low-set ears	23389	MED13L	ORPHA:369891
HP:0000369	Low-set ears	4621	MYH3	ORPHA:2990
HP:0000369	Low-set ears	4621	MYH3	OMIM:178110
HP:0000369	Low-set ears	1146	CHRNG	ORPHA:2990
HP:0000369	Low-set ears	1146	CHRNG	OMIM:265000
HP:0000369	Low-set ears	1146	CHRNG	OMIM:253290
HP:0000369	Low-set ears	7473	WNT3	OMIM:273395
HP:0000369	Low-set ears	79583	TMEM231	ORPHA:2752
HP:0000369	Low-set ears	55553	SOX6	OMIM:618971
HP:0000369	Low-set ears	5087	PBX1	OMIM:617641
HP:0000369	Low-set ears	4281	MID1	ORPHA:2745
HP:0000369	Low-set ears	4281	MID1	OMIM:300000
HP:0000369	Low-set ears	523	ATP6V1A	OMIM:617403
HP:0000369	Low-set ears	523	ATP6V1A	ORPHA:357074
HP:0000369	Low-set ears	529	ATP6V1E1	OMIM:617402
HP:0000369	Low-set ears	529	ATP6V1E1	ORPHA:357074
HP:0000369	Low-set ears	84148	KAT8	OMIM:618974
HP:0000369	Low-set ears	4654	MYOD1	OMIM:618975
HP:0000369	Low-set ears	246329	STAC3	OMIM:255995
HP:0000369	Low-set ears	3762	KCNJ5	ORPHA:37553
HP:0000369	Low-set ears	7528	YY1	ORPHA:506358
HP:0000369	Low-set ears	7528	YY1	OMIM:617557
HP:0000369	Low-set ears	8036	SHOC2	OMIM:607721
HP:0000369	Low-set ears	11253	MAN1B1	ORPHA:397941
HP:0000369	Low-set ears	11253	MAN1B1	OMIM:614202
HP:0000369	Low-set ears	10617	STAMBP	OMIM:614261
HP:0000369	Low-set ears	8367	H4C5	OMIM:619950
HP:0000369	Low-set ears	8294	H4C9	OMIM:619951
HP:0000369	Low-set ears	9853	RUSC2	OMIM:617773
HP:0000369	Low-set ears	6016	RIT1	OMIM:615355
HP:0000369	Low-set ears	10054	UBA2	OMIM:619959
HP:0000369	Low-set ears	51126	NAA20	OMIM:619717
HP:0000369	Low-set ears	84942	WDR73	OMIM:251300
HP:0000369	Low-set ears	64220	STRA6	OMIM:601186
HP:0000369	Low-set ears	64220	STRA6	ORPHA:2470
HP:0000369	Low-set ears	79848	CSPP1	ORPHA:397715
HP:0000369	Low-set ears	79848	CSPP1	ORPHA:475
HP:0000369	Low-set ears	3020	H3-3A	OMIM:619720
HP:0000369	Low-set ears	6536	SLC6A9	OMIM:617301
HP:0000369	Low-set ears	1723	DHODH	OMIM:263750
HP:0000369	Low-set ears	5830	PEX5	OMIM:202370
HP:0000369	Low-set ears	129563	DIS3L2	ORPHA:2849
HP:0000369	Low-set ears	129563	DIS3L2	OMIM:267000
HP:0000369	Low-set ears	28960	DCPS	OMIM:616459
HP:0000369	Low-set ears	23384	SPECC1L	ORPHA:1519
HP:0000369	Low-set ears	5189	PEX1	OMIM:214100
HP:0000369	Low-set ears	54	ACP5	OMIM:607944
HP:0000369	Low-set ears	2590	GALNT2	OMIM:618885
HP:0000369	Low-set ears	55870	ASH1L	OMIM:617796
HP:0000369	Low-set ears	4853	NOTCH2	OMIM:102500
HP:0000369	Low-set ears	4853	NOTCH2	ORPHA:955
HP:0000369	Low-set ears	10381	TUBB3	ORPHA:300570
HP:0000369	Low-set ears	23184	MESD	OMIM:618644
HP:0000369	Low-set ears	79184	BRCC3	ORPHA:280679
HP:0000369	Low-set ears	2626	GATA4	ORPHA:251071
HP:0000369	Low-set ears	7020	TFAP2A	OMIM:113620
HP:0000369	Low-set ears	652	BMP4	OMIM:607932
HP:0000369	Low-set ears	8726	EED	OMIM:617561
HP:0000369	Low-set ears	54968	TMEM70	OMIM:614052
HP:0000369	Low-set ears	54968	TMEM70	ORPHA:1194
HP:0000369	Low-set ears	22884	WDR37	OMIM:618652
HP:0000369	Low-set ears	1656	DDX6	OMIM:618653
HP:0000369	Low-set ears	4297	KMT2A	ORPHA:319182
HP:0000369	Low-set ears	4297	KMT2A	OMIM:605130
HP:0000369	Low-set ears	55714	TENM3	OMIM:615145
HP:0000369	Low-set ears	4174	MCM5	OMIM:617564
HP:0000369	Low-set ears	84314	TMEM107	OMIM:617563
HP:0000369	Low-set ears	57178	ZMIZ1	OMIM:618659
HP:0000369	Low-set ears	55012	PPP2R3C	OMIM:618419
HP:0000369	Low-set ears	2783	GNB2	OMIM:619503
HP:0000369	Low-set ears	200734	SPRED2	OMIM:619745
HP:0000369	Low-set ears	55623	THUMPD1	OMIM:619989
HP:0000369	Low-set ears	2773	GNAI3	OMIM:602483
HP:0000369	Low-set ears	3476	IGBP1	ORPHA:52055
HP:0000369	Low-set ears	3476	IGBP1	OMIM:300472
HP:0000369	Low-set ears	8241	RBM10	OMIM:311900
HP:0000369	Low-set ears	79600	TCTN1	ORPHA:475
HP:0000369	Low-set ears	51684	SUFU	ORPHA:475
HP:0000369	Low-set ears	54806	AHI1	ORPHA:475
HP:0000369	Low-set ears	54806	AHI1	OMIM:608629
HP:0000369	Low-set ears	153241	CEP120	ORPHA:475
HP:0000369	Low-set ears	200894	ARL13B	ORPHA:475
HP:0000369	Low-set ears	9731	CEP104	ORPHA:475
HP:0000369	Low-set ears	23247	KATNIP	ORPHA:475
HP:0000369	Low-set ears	219854	TMEM218	ORPHA:475
HP:0000369	Low-set ears	54903	MKS1	ORPHA:475
HP:0000369	Low-set ears	54903	MKS1	OMIM:249000
HP:0000369	Low-set ears	95681	CEP41	ORPHA:475
HP:0000369	Low-set ears	80776	B9D2	ORPHA:475
HP:0000369	Low-set ears	10464	PIBF1	ORPHA:475
HP:0000369	Low-set ears	80210	ARMC9	ORPHA:475
HP:0000369	Low-set ears	25776	CBY1	ORPHA:475
HP:0000369	Low-set ears	27077	B9D1	ORPHA:475
HP:0000369	Low-set ears	65062	TMEM237	ORPHA:475
HP:0000369	Low-set ears	65062	TMEM237	OMIM:614424
HP:0000369	Low-set ears	1789	DNMT3B	OMIM:242860
HP:0000369	Low-set ears	1789	DNMT3B	ORPHA:2268
HP:0000369	Low-set ears	253738	EBF3	OMIM:617330
HP:0000369	Low-set ears	8260	NAA10	OMIM:309800
HP:0000369	Low-set ears	8260	NAA10	OMIM:300855
HP:0000369	Low-set ears	8260	NAA10	ORPHA:276432
HP:0000369	Low-set ears	54880	BCOR	OMIM:309800
HP:0000369	Low-set ears	1182	CLCN3	OMIM:619512
HP:0000369	Low-set ears	29081	METTL5	OMIM:618665
HP:0000369	Low-set ears	51604	PIGT	OMIM:615398
HP:0000369	Low-set ears	51604	PIGT	ORPHA:369837
HP:0000369	Low-set ears	7862	BRPF1	OMIM:617333
HP:0000369	Low-set ears	3572	IL6ST	OMIM:619750
HP:0000369	Low-set ears	5048	PAFAH1B1	ORPHA:217385
HP:0000369	Low-set ears	7531	YWHAE	ORPHA:217385
HP:0000369	Low-set ears	3481	IGF2	OMIM:616489
HP:0000369	Low-set ears	3481	IGF2	ORPHA:397590
HP:0000369	Low-set ears	9841	ZBTB24	OMIM:614069
HP:0000369	Low-set ears	9841	ZBTB24	ORPHA:2268
HP:0000369	Low-set ears	8364	H4C3	OMIM:619758
HP:0000369	Low-set ears	6134	RPL10	ORPHA:459070
HP:0000369	Low-set ears	8314	BAP1	OMIM:619762
HP:0000369	Low-set ears	7750	ZMYM2	OMIM:619522
HP:0000369	Low-set ears	51098	IFT52	OMIM:617102
HP:0000369	Low-set ears	53335	BCL11A	OMIM:617101
HP:0000369	Low-set ears	4849	CNOT3	OMIM:618672
HP:0000369	Low-set ears	6942	TCF20	OMIM:618430
HP:0000369	Low-set ears	9928	KIF14	OMIM:616258
HP:0000369	Low-set ears	2542	SLC37A4	OMIM:619525
HP:0000369	Low-set ears	9562	MINPP1	OMIM:619527
HP:0000369	Low-set ears	2683	B4GALT1	ORPHA:79332
HP:0000369	Low-set ears	2556	GABRA3	OMIM:301091
HP:0000369	Low-set ears	57724	EPG5	OMIM:242840
HP:0000369	Low-set ears	23556	PIGN	OMIM:614080
HP:0000369	Low-set ears	23162	MAPK8IP3	OMIM:618443
HP:0000369	Low-set ears	55120	FANCL	OMIM:614083
HP:0000369	Low-set ears	79989	IFT56	OMIM:619534
HP:0000369	Low-set ears	9319	TRIP13	OMIM:617598
HP:0000369	Low-set ears	85365	ALG2	OMIM:607906
HP:0000369	Low-set ears	57479	PRR12	OMIM:619539
HP:0000369	Low-set ears	7994	KAT6A	OMIM:616268
HP:0000369	Low-set ears	2006	ELN	ORPHA:90348
HP:0000369	Low-set ears	10516	FBLN5	ORPHA:90348
HP:0000369	Low-set ears	5832	ALDH18A1	ORPHA:90348
HP:0000369	Low-set ears	5832	ALDH18A1	OMIM:219150
HP:0000369	Low-set ears	5832	ALDH18A1	OMIM:616603
HP:0000369	Low-set ears	1107	CHD3	OMIM:618205
HP:0000369	Low-set ears	7476	WNT7A	OMIM:276820
HP:0000369	Low-set ears	29929	ALG6	ORPHA:79320
HP:0000369	Low-set ears	54361	WNT4	OMIM:611812
HP:0000369	Low-set ears	257	ALX3	OMIM:136760
HP:0000369	Low-set ears	6261	RYR1	OMIM:619542
HP:0000369	Low-set ears	8295	TRRAP	OMIM:618454
HP:0000369	Low-set ears	8621	CDK13	OMIM:617360
HP:0000369	Low-set ears	3658	IREB2	OMIM:618451
HP:0000369	Low-set ears	29968	PSAT1	OMIM:616038
HP:0000369	Low-set ears	58497	PRUNE1	ORPHA:544469
HP:0000369	Low-set ears	164	AP1G1	OMIM:619548
HP:0000369	Low-set ears	55770	EXOC2	OMIM:619306
HP:0000369	Low-set ears	6654	SOS1	OMIM:610733
HP:0000369	Low-set ears	84706	GPT2	OMIM:616281
HP:0000369	Low-set ears	84706	GPT2	ORPHA:477673
HP:0000369	Low-set ears	8504	PEX3	OMIM:617370
HP:0000369	Low-set ears	5898	RALA	OMIM:619311
HP:0000369	Low-set ears	10466	COG5	ORPHA:263487
HP:0000369	Low-set ears	6909	TBX2	OMIM:618223
HP:0000369	Low-set ears	23013	SPEN	OMIM:619312
HP:0000369	Low-set ears	6477	SIAH1	OMIM:619314
HP:0000369	Low-set ears	5631	PRPS1	ORPHA:423479
HP:0000369	Low-set ears	5631	PRPS1	OMIM:300661
HP:0000369	Low-set ears	79868	ALG13	OMIM:300884
HP:0000369	Low-set ears	29998	BICRA	OMIM:619325
HP:0000369	Low-set ears	23030	KDM4B	OMIM:619320
HP:0000369	Low-set ears	4081	MAB21L1	OMIM:618479
HP:0000369	Low-set ears	2033	EP300	ORPHA:353284
HP:0000369	Low-set ears	2033	EP300	OMIM:180849
HP:0000369	Low-set ears	2067	ERCC1	OMIM:610758
HP:0000369	Low-set ears	2710	GK	OMIM:307030
HP:0000369	Low-set ears	84892	POMGNT2	ORPHA:899
HP:0000369	Low-set ears	148789	B3GALNT2	ORPHA:899
HP:0000369	Low-set ears	1282	COL4A1	ORPHA:899
HP:0000369	Low-set ears	729920	CRPPA	ORPHA:899
HP:0000369	Low-set ears	729920	CRPPA	OMIM:614643
HP:0000369	Low-set ears	10329	RXYLT1	ORPHA:899
HP:0000369	Low-set ears	1605	DAG1	ORPHA:899
HP:0000369	Low-set ears	11041	B4GAT1	ORPHA:899
HP:0000369	Low-set ears	84197	POMK	ORPHA:899
HP:0000369	Low-set ears	55624	POMGNT1	ORPHA:899
HP:0000369	Low-set ears	1725	DHPS	OMIM:618480
HP:0000369	Low-set ears	57551	TAOK1	OMIM:619575
HP:0000369	Low-set ears	1108	CHD4	OMIM:617159
HP:0000369	Low-set ears	1147	CHUK	OMIM:619339
HP:0000369	Low-set ears	29920	PYCR2	ORPHA:481152
HP:0000369	Low-set ears	29920	PYCR2	OMIM:616420
HP:0000369	Low-set ears	9509	ADAMTS2	OMIM:225410
HP:0000369	Low-set ears	26276	VPS33B	OMIM:208085
HP:0000369	Low-set ears	10524	KAT5	OMIM:619103
HP:0000369	Low-set ears	22808	MRAS	OMIM:618499
HP:0000369	Low-set ears	3977	LIFR	OMIM:601559
HP:0000369	Low-set ears	1822	ATN1	OMIM:618494
HP:0000369	Low-set ears	9244	CRLF1	OMIM:272430
HP:0000369	Low-set ears	6611	SMS	ORPHA:3063
HP:0000369	Low-set ears	57003	CCDC47	OMIM:618268
HP:0000369	Low-set ears	5977	DPF2	OMIM:618027
HP:0000369	Low-set ears	340419	RSPO2	OMIM:618021
HP:0000369	Low-set ears	145173	B3GLCT	OMIM:261540
HP:0000369	Low-set ears	79005	SCNM1	OMIM:620107
HP:0000369	Low-set ears	526	ATP6V1B2	ORPHA:79500
HP:0000369	Low-set ears	57465	TBC1D24	ORPHA:79500
HP:0000369	Low-set ears	57465	TBC1D24	OMIM:220500
HP:0000369	Low-set ears	10653	SPINT2	OMIM:270420
HP:0000369	Low-set ears	113189	CHST14	OMIM:601776
HP:0000369	Low-set ears	2571	GAD1	OMIM:619124
HP:0000369	Low-set ears	285590	SH3PXD2B	OMIM:249420
HP:0000369	Low-set ears	51715	RAB23	OMIM:201000
HP:0000369	Low-set ears	64093	SMOC1	OMIM:206920
HP:0000369	Low-set ears	118924	FRA10AC1	OMIM:620113
HP:0000369	Low-set ears	22995	CEP152	OMIM:613823
HP:0000369	Low-set ears	1759	DNM1	OMIM:620352
HP:0000369	Low-set ears	55252	ASXL2	OMIM:617190
HP:0000369	Low-set ears	2177	FANCD2	OMIM:227646
HP:0000369	Low-set ears	5528	PPP2R5D	ORPHA:457279
HP:0000369	Low-set ears	1984	EIF5A	OMIM:619376
HP:0000369	Low-set ears	2733	GLE1	OMIM:611890
HP:0000369	Low-set ears	3295	HSD17B4	OMIM:261515
HP:0000369	Low-set ears	5727	PTCH1	ORPHA:77301
HP:0000369	Low-set ears	129285	PPP1R21	OMIM:619383
HP:0000369	Low-set ears	6913	TBX15	OMIM:260660
HP:0000369	Low-set ears	6913	TBX15	ORPHA:93333
HP:0000369	Low-set ears	221692	PHACTR1	OMIM:618298
HP:0000369	Low-set ears	374654	KIF7	ORPHA:2189
HP:0000369	Low-set ears	374654	KIF7	OMIM:200990
HP:0000369	Low-set ears	374654	KIF7	OMIM:607131
HP:0000369	Low-set ears	3480	IGF1R	OMIM:270450
HP:0000369	Low-set ears	83483	PLVAP	OMIM:618183
HP:0000369	Low-set ears	10128	LRPPRC	OMIM:220111
HP:0000369	Low-set ears	9131	AIFM1	OMIM:300232
HP:0000369	Low-set ears	10262	SF3B4	OMIM:154400
HP:0000369	Low-set ears	8506	CNTNAP1	OMIM:618186
HP:0000369	Low-set ears	55503	TRPV6	OMIM:618188
HP:0000369	Low-set ears	5894	RAF1	OMIM:611554
HP:0000369	Low-set ears	5894	RAF1	OMIM:611553
HP:0000369	Low-set ears	775	CACNA1C	OMIM:620029
HP:0000369	Low-set ears	8854	ALDH1A2	OMIM:620025
HP:0000369	Low-set ears	10274	STAG1	ORPHA:502434
HP:0000369	Low-set ears	4774	NFIA	OMIM:613735
HP:0000369	Low-set ears	118987	PDZD8	OMIM:620021
HP:0000369	Low-set ears	2629	GBA1	OMIM:608013
HP:0000369	Low-set ears	23118	TAB2	ORPHA:228410
HP:0000369	Low-set ears	58	ACTA1	ORPHA:171433
HP:0000369	Low-set ears	58	ACTA1	ORPHA:171430
HP:0000369	Low-set ears	10324	KLHL41	ORPHA:171433
HP:0000369	Low-set ears	10324	KLHL41	ORPHA:171430
HP:0000369	Low-set ears	7170	TPM3	ORPHA:171433
HP:0000369	Low-set ears	2317	FLNB	ORPHA:1190
HP:0000369	Low-set ears	2317	FLNB	OMIM:108720
HP:0000369	Low-set ears	9442	MED27	OMIM:619286
HP:0000369	Low-set ears	131377	KLHL40	ORPHA:171430
HP:0000369	Low-set ears	56203	LMOD3	ORPHA:171430
HP:0000369	Low-set ears	22858	CILK1	OMIM:612651
HP:0000369	Low-set ears	10847	SRCAP	ORPHA:2044
HP:0000369	Low-set ears	10847	SRCAP	OMIM:136140
HP:0000369	Low-set ears	25782	RAB3GAP2	OMIM:212720
HP:0000369	Low-set ears	56262	LRRC8A	OMIM:613506
HP:0000369	Low-set ears	6595	SMARCA2	OMIM:619293
HP:0000369	Low-set ears	170302	ARX	OMIM:300215
HP:0000369	Low-set ears	57492	ARID1B	OMIM:135900
HP:0000369	Low-set ears	3899	AFF3	OMIM:619297
HP:0000369	Low-set ears	9739	SETD1A	OMIM:619056
HP:0000369	Low-set ears	55107	ANO1	OMIM:620045
HP:0000369	Low-set ears	8546	AP3B1	OMIM:608233
HP:0000369	Low-set ears	1717	DHCR7	OMIM:270400
HP:0000369	Low-set ears	4524	MTHFR	ORPHA:563612
HP:0000369	Low-set ears	57216	VANGL2	ORPHA:563612
HP:0000369	Low-set ears	3070	HELLS	ORPHA:2268
HP:0000369	Low-set ears	10352	WARS2	ORPHA:572798
HP:0000369	Low-set ears	51021	MRPS16	OMIM:610498
HP:0000369	Low-set ears	2752	GLUL	OMIM:610015
HP:0000369	Low-set ears	1302	COL11A2	ORPHA:2021
HP:0000369	Low-set ears	657	BMPR1A	ORPHA:79076
HP:0000369	Low-set ears	26005	C2CD3	OMIM:615948
HP:0000369	Low-set ears	5193	PEX12	OMIM:614859
HP:0000369	Low-set ears	3265	HRAS	OMIM:218040
HP:0000369	Low-set ears	2697	GJA1	OMIM:257850
HP:0000369	Low-set ears	26227	PHGDH	OMIM:256520
HP:0000369	Low-set ears	23265	EXOC7	OMIM:619072
HP:0000369	Low-set ears	1802	DPH2	OMIM:620062
HP:0000369	Low-set ears	1857	DVL3	ORPHA:3107
HP:0000369	Low-set ears	1857	DVL3	OMIM:616894
HP:0000369	Low-set ears	2535	FZD2	ORPHA:3107
HP:0000369	Low-set ears	6660	SOX5	OMIM:616803
HP:0000369	Low-set ears	5828	PEX2	OMIM:614866
HP:0000369	Low-set ears	285175	UNC80	OMIM:616801
HP:0000369	Low-set ears	55165	CEP55	OMIM:236500
HP:0000369	Low-set ears	55027	HEATR3	OMIM:620072
HP:0000369	Low-set ears	6558	SLC12A2	OMIM:619080
HP:0000369	Low-set ears	4089	SMAD4	OMIM:139210
HP:0000369	Low-set ears	5594	MAPK1	OMIM:619087
HP:0000369	Low-set ears	5192	PEX10	OMIM:614870
HP:0000369	Low-set ears	5324	PLAG1	ORPHA:397590
HP:0000369	Low-set ears	8091	HMGA2	ORPHA:397590
HP:0000369	Low-set ears	55670	PEX26	OMIM:614872
HP:0000369	Low-set ears	5591	PRKDC	OMIM:615966
HP:0000369	Low-set ears	471	ATIC	OMIM:608688
HP:0000369	Low-set ears	471	ATIC	ORPHA:250977
HP:0000369	Low-set ears	668	FOXL2	ORPHA:572333
HP:0000369	Low-set ears	55691	FRMD4A	OMIM:616819
HP:0000369	Low-set ears	10430	TMEM147	OMIM:620075
HP:0000369	Low-set ears	3187	HNRNPH1	OMIM:620083
HP:0000369	Low-set ears	4920	ROR2	OMIM:268310
HP:0000369	Low-set ears	63895	PIEZO2	OMIM:248700
HP:0000369	Low-set ears	63895	PIEZO2	ORPHA:2461
HP:0000369	Low-set ears	5295	PIK3R1	OMIM:269880
HP:0000369	Low-set ears	4677	NARS1	OMIM:619092
HP:0000369	Low-set ears	5915	RARB	ORPHA:2470
HP:0000369	Low-set ears	3954	LETM1	OMIM:620089
HP:0000369	Low-set ears	157570	ESCO2	OMIM:268300
HP:0000369	Low-set ears	5781	PTPN11	OMIM:151100
HP:0000369	Low-set ears	5781	PTPN11	OMIM:163950
HP:0000369	Low-set ears	9775	EIF4A3	OMIM:268305
HP:0000369	Low-set ears	667	DST	OMIM:614653
HP:0000369	Low-set ears	2702	GJA5	OMIM:612474
HP:0000369	Low-set ears	2703	GJA8	OMIM:612474
HP:0000369	Low-set ears	867	CBL	OMIM:613563
HP:0000369	Low-set ears	51025	PAM16	OMIM:613320
HP:0000369	Low-set ears	27152	INTU	OMIM:617925
HP:0000369	Low-set ears	27152	INTU	OMIM:617926
HP:0000369	Low-set ears	10664	CTCF	OMIM:615502
HP:0000369	Low-set ears	1144	CHRND	OMIM:253290
HP:0000369	Low-set ears	1134	CHRNA1	OMIM:253290
HP:0000369	Low-set ears	6497	SKI	ORPHA:2462
HP:0000369	Low-set ears	6497	SKI	OMIM:182212
HP:0000369	Low-set ears	6888	TALDO1	OMIM:606003
HP:0000369	Low-set ears	3720	JARID2	OMIM:620098
HP:0000369	Low-set ears	9698	PUM1	OMIM:617931
HP:0000369	Low-set ears	100151683	RNU4ATAC	OMIM:210710
HP:0000369	Low-set ears	100151683	RNU4ATAC	ORPHA:2636
HP:0000369	Low-set ears	5332	PLCB4	OMIM:614669
HP:0000369	Low-set ears	5859	QARS1	OMIM:615760
HP:0000369	Low-set ears	113179	ADAT3	ORPHA:363528
HP:0000369	Low-set ears	79631	EFL1	OMIM:617941
HP:0000369	Low-set ears	55784	MCTP2	ORPHA:1596
HP:0000369	Low-set ears	30008	EFEMP2	OMIM:614437
HP:0000369	Low-set ears	2720	GLB1	ORPHA:79255
HP:0000369	Low-set ears	51116	MRPS2	OMIM:617950
HP:0000369	Low-set ears	10265	IRX5	OMIM:611174
HP:0000369	Low-set ears	5925	RB1	ORPHA:1587
HP:0000369	Low-set ears	23511	NUP188	OMIM:618804
HP:0000369	Low-set ears	7874	USP7	OMIM:616863
HP:0000369	Low-set ears	1063	CENPF	OMIM:243605
HP:0000369	Low-set ears	54551	MAGEL2	OMIM:615547
HP:0000369	Low-set ears	55644	OSGEP	OMIM:617729
HP:0000369	Low-set ears	57572	DOCK6	OMIM:614219
HP:0000369	Low-set ears	29980	DONSON	OMIM:251230
HP:0000369	Low-set ears	6628	SNRPB	OMIM:117650
HP:0000369	Low-set ears	29957	SLC25A24	OMIM:612289
HP:0000369	Low-set ears	4659	PPP1R12A	OMIM:618820
HP:0000369	Low-set ears	490	ATP2B1	OMIM:619910
HP:0000369	Low-set ears	8405	SPOP	OMIM:618829
HP:0000369	Low-set ears	54870	QRICH1	OMIM:617982
HP:0000369	Low-set ears	5075	PAX1	OMIM:615560
HP:0000369	Low-set ears	83737	ITCH	OMIM:613385
HP:0000369	Low-set ears	202018	TAPT1	OMIM:616897
HP:0000369	Low-set ears	5500	PPP1CB	OMIM:617506
HP:0000369	Low-set ears	54676	GTPBP2	OMIM:617988
HP:0000369	Low-set ears	100506658	OCLN	OMIM:251290
HP:0000369	Low-set ears	2273	FHL1	OMIM:300280
HP:0000369	Low-set ears	1376	CPT2	OMIM:608836
HP:0000369	Low-set ears	126792	B3GALT6	ORPHA:536467
HP:0000369	Low-set ears	9320	TRIP12	OMIM:617752
HP:0000369	Low-set ears	5879	RAC1	OMIM:617751
HP:0000369	Low-set ears	5116	PCNT	ORPHA:2637
HP:0000369	Low-set ears	25974	MMACHC	ORPHA:79282
HP:0000369	Low-set ears	25974	MMACHC	OMIM:277400
HP:0000369	Low-set ears	5718	PSMD12	OMIM:617516
HP:0000369	Low-set ears	10584	COLEC10	ORPHA:293843
HP:0000369	Low-set ears	5648	MASP1	ORPHA:293843
HP:0000369	Low-set ears	78989	COLEC11	ORPHA:293843
HP:0000369	Low-set ears	4848	CNOT2	OMIM:618608
HP:0000369	Low-set ears	9469	CHST3	OMIM:245600
HP:0000369	Low-set ears	26229	B3GAT3	OMIM:245600
HP:0000369	Low-set ears	4204	MECP2	OMIM:300260
HP:0000369	Low-set ears	5307	PITX1	OMIM:119800
HP:0000369	Low-set ears	101929726	MYMX	OMIM:619941
HP:0000369	Low-set ears	23404	EXOSC2	OMIM:617763
HP:0000369	Low-set ears	55331	ACER3	OMIM:617762
HP:0000369	Low-set ears	92935	MARS2	OMIM:616430
HP:0000369	Low-set ears	10082	GPC6	ORPHA:93329
HP:0000369	Low-set ears	9373	PLAA	OMIM:617527
HP:0000369	Low-set ears	58499	ZNF462	OMIM:618619
HP:0000369	Low-set ears	5052	PRDX1	OMIM:277400
HP:0000369	Low-set ears	5604	MAP2K1	OMIM:163950
HP:0007529	Hidrotic ectodermal dysplasia	526	ATP6V1B2	OMIM:124480
HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	26227	PHGDH	OMIM:256520
HP:0007526	Hypopigmented skin patches on arms	54	ACP5	OMIM:607944
HP:0010561	Undulate ribs	388015	RTL1	ORPHA:96334
HP:0010561	Undulate ribs	8788	DLK1	ORPHA:96334
HP:0010561	Undulate ribs	55384	MEG3	ORPHA:96334
HP:0010561	Undulate ribs	55503	TRPV6	OMIM:618188
HP:0010560	Undulate clavicles	2316	FLNA	OMIM:304120
HP:0010587	Triangular epiphyses	8200	GDF5	OMIM:113100
HP:0010574	Abnormality of the epiphysis of the femoral head	9653	HS2ST1	OMIM:619194
HP:0010574	Abnormality of the epiphysis of the femoral head	9742	IFT140	OMIM:266920
HP:0010574	Abnormality of the epiphysis of the femoral head	8985	PLOD3	OMIM:612394
HP:0010574	Abnormality of the epiphysis of the femoral head	2720	GLB1	OMIM:253010
HP:0010574	Abnormality of the epiphysis of the femoral head	9469	CHST3	OMIM:143095
HP:0010574	Abnormality of the epiphysis of the femoral head	2137	EXTL3	OMIM:617425
HP:0010574	Abnormality of the epiphysis of the femoral head	6399	TRAPPC2	OMIM:313400
HP:0010574	Abnormality of the epiphysis of the femoral head	50485	SMARCAL1	OMIM:242900
HP:0010574	Abnormality of the epiphysis of the femoral head	124583	CANT1	OMIM:617719
HP:0010574	Abnormality of the epiphysis of the femoral head	9382	COG1	OMIM:611209
HP:0010574	Abnormality of the epiphysis of the femoral head	990	CDC6	OMIM:613805
HP:0010574	Abnormality of the epiphysis of the femoral head	54808	DYM	ORPHA:239
HP:0010574	Abnormality of the epiphysis of the femoral head	5286	PIK3C2A	ORPHA:557003
HP:0010574	Abnormality of the epiphysis of the femoral head	3835	KIF22	ORPHA:93360
HP:0010574	Abnormality of the epiphysis of the femoral head	3835	KIF22	OMIM:603546
HP:0010574	Abnormality of the epiphysis of the femoral head	1836	SLC26A2	OMIM:226900
HP:0010574	Abnormality of the epiphysis of the femoral head	91252	SLC39A13	ORPHA:157965
HP:0010574	Abnormality of the epiphysis of the femoral head	91252	SLC39A13	OMIM:612350
HP:0010574	Abnormality of the epiphysis of the femoral head	84572	GNPTG	OMIM:252605
HP:0010574	Abnormality of the epiphysis of the femoral head	8838	CCN6	ORPHA:1159
HP:0010574	Abnormality of the epiphysis of the femoral head	176	ACAN	OMIM:608361
HP:0010574	Abnormality of the epiphysis of the femoral head	1297	COL9A1	OMIM:614134
HP:0010574	Abnormality of the epiphysis of the femoral head	1297	COL9A1	OMIM:614135
HP:0010574	Abnormality of the epiphysis of the femoral head	9496	TBX4	OMIM:147891
HP:0010574	Abnormality of the epiphysis of the femoral head	1300	COL10A1	OMIM:156500
HP:0010574	Abnormality of the epiphysis of the femoral head	1302	COL11A2	OMIM:215150
HP:0010574	Abnormality of the epiphysis of the femoral head	5830	PEX5	OMIM:616716
HP:0010574	Abnormality of the epiphysis of the femoral head	538	ATP7A	ORPHA:198
HP:0010574	Abnormality of the epiphysis of the femoral head	55898	UNC45A	OMIM:619377
HP:0010574	Abnormality of the epiphysis of the femoral head	26277	TINF2	OMIM:613990
HP:0010574	Abnormality of the epiphysis of the femoral head	91754	NEK9	OMIM:614262
HP:0010574	Abnormality of the epiphysis of the femoral head	9652	SKIC3	OMIM:222470
HP:0010574	Abnormality of the epiphysis of the femoral head	1857	DVL3	ORPHA:3107
HP:0010574	Abnormality of the epiphysis of the femoral head	7474	WNT5A	ORPHA:3107
HP:0010574	Abnormality of the epiphysis of the femoral head	1855	DVL1	ORPHA:3107
HP:0010574	Abnormality of the epiphysis of the femoral head	2535	FZD2	ORPHA:3107
HP:0010574	Abnormality of the epiphysis of the femoral head	1387	CREBBP	ORPHA:353277
HP:0010574	Abnormality of the epiphysis of the femoral head	1387	CREBBP	ORPHA:353281
HP:0010574	Abnormality of the epiphysis of the femoral head	2335	FN1	ORPHA:93315
HP:0010574	Abnormality of the epiphysis of the femoral head	1280	COL2A1	ORPHA:93315
HP:0010574	Abnormality of the epiphysis of the femoral head	1280	COL2A1	OMIM:608805
HP:0010574	Abnormality of the epiphysis of the femoral head	1280	COL2A1	OMIM:150600
HP:0010574	Abnormality of the epiphysis of the femoral head	81031	SLC2A10	ORPHA:3342
HP:0010574	Abnormality of the epiphysis of the femoral head	9719	ADAMTSL2	ORPHA:1901
HP:0010574	Abnormality of the epiphysis of the femoral head	9509	ADAMTS2	ORPHA:1901
HP:0010574	Abnormality of the epiphysis of the femoral head	4796	TONSL	ORPHA:93357
HP:0010574	Abnormality of the epiphysis of the femoral head	4148	MATN3	ORPHA:93311
HP:0010574	Abnormality of the epiphysis of the femoral head	2131	EXT1	ORPHA:502
HP:0010574	Abnormality of the epiphysis of the femoral head	7227	TRPS1	ORPHA:502
HP:0010574	Abnormality of the epiphysis of the femoral head	7227	TRPS1	OMIM:190350
HP:0010574	Abnormality of the epiphysis of the femoral head	7227	TRPS1	OMIM:190351
HP:0010574	Abnormality of the epiphysis of the femoral head	7227	TRPS1	ORPHA:77258
HP:0010574	Abnormality of the epiphysis of the femoral head	55325	UFSP2	OMIM:142669
HP:0010574	Abnormality of the epiphysis of the femoral head	11277	TREX1	ORPHA:247691
HP:0010574	Abnormality of the epiphysis of the femoral head	59341	TRPV4	OMIM:617383
HP:0010574	Abnormality of the epiphysis of the femoral head	1311	COMP	OMIM:132400
HP:0010574	Abnormality of the epiphysis of the femoral head	1311	COMP	ORPHA:93308
HP:0010574	Abnormality of the epiphysis of the femoral head	2033	EP300	ORPHA:353284
HP:0010574	Abnormality of the epiphysis of the femoral head	10847	SRCAP	ORPHA:2044
HP:0010574	Abnormality of the epiphysis of the femoral head	25782	RAB3GAP2	OMIM:212720
HP:0010574	Abnormality of the epiphysis of the femoral head	64374	SIL1	ORPHA:559
HP:0010574	Abnormality of the epiphysis of the femoral head	51763	INPP5K	ORPHA:559
HP:0010574	Abnormality of the epiphysis of the femoral head	1278	COL1A2	ORPHA:1899
HP:0010574	Abnormality of the epiphysis of the femoral head	1277	COL1A1	ORPHA:1899
HP:0010574	Abnormality of the epiphysis of the femoral head	89970	RSPRY1	ORPHA:457395
HP:0010574	Abnormality of the epiphysis of the femoral head	89970	RSPRY1	OMIM:616723
HP:0010574	Abnormality of the epiphysis of the femoral head	5979	RET	OMIM:162300
HP:0010574	Abnormality of the epiphysis of the femoral head	2972	BRF1	OMIM:616202
HP:0010574	Abnormality of the epiphysis of the femoral head	5116	PCNT	OMIM:210720
HP:0010574	Abnormality of the epiphysis of the femoral head	51119	SBDS	OMIM:260400
HP:0010574	Abnormality of the epiphysis of the femoral head	51119	SBDS	ORPHA:811
HP:0010574	Abnormality of the epiphysis of the femoral head	134218	DNAJC21	OMIM:260400
HP:0010574	Abnormality of the epiphysis of the femoral head	134218	DNAJC21	ORPHA:811
HP:0010574	Abnormality of the epiphysis of the femoral head	6729	SRP54	OMIM:260400
HP:0010574	Abnormality of the epiphysis of the femoral head	6729	SRP54	ORPHA:811
HP:0010574	Abnormality of the epiphysis of the femoral head	79631	EFL1	ORPHA:811
HP:0010574	Abnormality of the epiphysis of the femoral head	9131	AIFM1	OMIM:300232
HP:0010574	Abnormality of the epiphysis of the femoral head	3549	IHH	OMIM:607778
HP:0010574	Abnormality of the epiphysis of the femoral head	79848	CSPP1	ORPHA:397715
HP:0010574	Abnormality of the epiphysis of the femoral head	9786	KIAA0586	ORPHA:397715
HP:0010574	Abnormality of the epiphysis of the femoral head	5626	PROP1	ORPHA:226307
HP:0010574	Abnormality of the epiphysis of the femoral head	89884	LHX4	ORPHA:226307
HP:0010574	Abnormality of the epiphysis of the femoral head	8022	LHX3	ORPHA:226307
HP:0010574	Abnormality of the epiphysis of the femoral head	5449	POU1F1	ORPHA:226307
HP:0010574	Abnormality of the epiphysis of the femoral head	8820	HESX1	ORPHA:226307
HP:0010574	Abnormality of the epiphysis of the femoral head	405753	DUOXA2	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	6528	SLC5A5	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	7038	TG	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	7173	TPO	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	389434	IYD	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	50506	DUOX2	ORPHA:95716
HP:0010574	Abnormality of the epiphysis of the femoral head	100151683	RNU4ATAC	ORPHA:353298
HP:0010574	Abnormality of the epiphysis of the femoral head	7253	TSHR	ORPHA:90673
HP:0010574	Abnormality of the epiphysis of the femoral head	7252	TSHB	ORPHA:90674
HP:0010574	Abnormality of the epiphysis of the femoral head	126792	B3GALT6	OMIM:271640
HP:0010574	Abnormality of the epiphysis of the femoral head	60561	RINT1	OMIM:618641
HP:0010577	Absent epiphyses	1311	COMP	ORPHA:750
HP:0010577	Absent epiphyses	9653	HS2ST1	OMIM:619194
HP:0010577	Absent epiphyses	3835	KIF22	OMIM:603546
HP:0010577	Absent epiphyses	9742	IFT140	OMIM:266920
HP:0010577	Absent epiphyses	8985	PLOD3	OMIM:612394
HP:0010577	Absent epiphyses	2720	GLB1	OMIM:253010
HP:0010577	Absent epiphyses	9469	CHST3	OMIM:143095
HP:0010577	Absent epiphyses	2137	EXTL3	OMIM:617425
HP:0010577	Absent epiphyses	1280	COL2A1	ORPHA:85166
HP:0010577	Absent epiphyses	6399	TRAPPC2	OMIM:313400
HP:0010577	Absent epiphyses	50485	SMARCAL1	OMIM:242900
HP:0010577	Absent epiphyses	124583	CANT1	OMIM:617719
HP:0010577	Absent epiphyses	9719	ADAMTSL2	OMIM:231050
HP:0010577	Absent epiphyses	9382	COG1	OMIM:611209
HP:0010577	Absent epiphyses	990	CDC6	OMIM:613805
HP:0010577	Absent epiphyses	54808	DYM	ORPHA:239
HP:0010577	Absent epiphyses	5286	PIK3C2A	ORPHA:557003
HP:0010577	Absent epiphyses	4148	MATN3	OMIM:607078
HP:0010577	Absent epiphyses	1302	COL11A2	OMIM:215150
HP:0010577	Absent epiphyses	100151683	RNU4ATAC	OMIM:210710
HP:0010577	Absent epiphyses	59341	TRPV4	ORPHA:93314
HP:0010577	Absent epiphyses	9361	LONP1	OMIM:600373
HP:0010576	Intracranial cystic lesion	10682	EBP	ORPHA:401973
HP:0010576	Intracranial cystic lesion	10682	EBP	OMIM:300960
HP:0010576	Intracranial cystic lesion	10682	EBP	OMIM:302960
HP:0010576	Intracranial cystic lesion	56896	DPYSL5	OMIM:619435
HP:0010576	Intracranial cystic lesion	3265	HRAS	ORPHA:2612
HP:0010576	Intracranial cystic lesion	4893	NRAS	ORPHA:2612
HP:0010576	Intracranial cystic lesion	4893	NRAS	OMIM:249400
HP:0010576	Intracranial cystic lesion	23556	PIGN	ORPHA:2059
HP:0010576	Intracranial cystic lesion	7355	SLC35A2	ORPHA:356961
HP:0010576	Intracranial cystic lesion	65062	TMEM237	OMIM:614424
HP:0010576	Intracranial cystic lesion	65062	TMEM237	ORPHA:564
HP:0010576	Intracranial cystic lesion	7545	ZIC1	OMIM:616602
HP:0010576	Intracranial cystic lesion	7545	ZIC1	OMIM:618736
HP:0010576	Intracranial cystic lesion	84942	WDR73	OMIM:251300
HP:0010576	Intracranial cystic lesion	2737	GLI3	ORPHA:36
HP:0010576	Intracranial cystic lesion	9786	KIAA0586	ORPHA:397715
HP:0010576	Intracranial cystic lesion	57465	TBC1D24	OMIM:220500
HP:0010576	Intracranial cystic lesion	57465	TBC1D24	ORPHA:79500
HP:0010576	Intracranial cystic lesion	55112	DYNC2I1	ORPHA:93271
HP:0010576	Intracranial cystic lesion	57560	IFT80	ORPHA:93271
HP:0010576	Intracranial cystic lesion	57539	WDR35	ORPHA:93271
HP:0010576	Intracranial cystic lesion	89891	DYNC2I2	ORPHA:93271
HP:0010576	Intracranial cystic lesion	1436	CSF1R	OMIM:618476
HP:0010576	Intracranial cystic lesion	84162	BLTP1	OMIM:617822
HP:0010576	Intracranial cystic lesion	4081	MAB21L1	OMIM:618479
HP:0010576	Intracranial cystic lesion	51259	TMEM216	OMIM:603194
HP:0010576	Intracranial cystic lesion	51259	TMEM216	ORPHA:564
HP:0010576	Intracranial cystic lesion	55636	CHD7	ORPHA:138
HP:0010576	Intracranial cystic lesion	9723	SEMA3E	ORPHA:138
HP:0010576	Intracranial cystic lesion	84892	POMGNT2	ORPHA:899
HP:0010576	Intracranial cystic lesion	1282	COL4A1	ORPHA:899
HP:0010576	Intracranial cystic lesion	10329	RXYLT1	ORPHA:899
HP:0010576	Intracranial cystic lesion	11041	B4GAT1	ORPHA:899
HP:0010576	Intracranial cystic lesion	11041	B4GAT1	OMIM:615287
HP:0010576	Intracranial cystic lesion	79068	FTO	OMIM:612938
HP:0010576	Intracranial cystic lesion	57492	ARID1B	OMIM:135900
HP:0010576	Intracranial cystic lesion	57492	ARID1B	ORPHA:1465
HP:0010576	Intracranial cystic lesion	3899	AFF3	OMIM:619297
HP:0010576	Intracranial cystic lesion	6597	SMARCA4	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6597	SMARCA4	OMIM:614609
HP:0010576	Intracranial cystic lesion	6598	SMARCB1	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6598	SMARCB1	OMIM:614608
HP:0010576	Intracranial cystic lesion	6659	SOX4	ORPHA:1465
HP:0010576	Intracranial cystic lesion	8289	ARID1A	ORPHA:1465
HP:0010576	Intracranial cystic lesion	8289	ARID1A	OMIM:614607
HP:0010576	Intracranial cystic lesion	5977	DPF2	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6601	SMARCC2	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6602	SMARCD1	ORPHA:1465
HP:0010576	Intracranial cystic lesion	196528	ARID2	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6605	SMARCE1	ORPHA:1465
HP:0010576	Intracranial cystic lesion	6605	SMARCE1	OMIM:616938
HP:0010576	Intracranial cystic lesion	6664	SOX11	ORPHA:1465
HP:0010576	Intracranial cystic lesion	23545	ATP6V0A2	ORPHA:2834
HP:0010576	Intracranial cystic lesion	23545	ATP6V0A2	OMIM:219200
HP:0010576	Intracranial cystic lesion	23545	ATP6V0A2	ORPHA:357074
HP:0010576	Intracranial cystic lesion	27315	PGAP2	OMIM:614207
HP:0010576	Intracranial cystic lesion	157570	ESCO2	ORPHA:2319
HP:0010576	Intracranial cystic lesion	5340	PLG	ORPHA:722
HP:0010576	Intracranial cystic lesion	5340	PLG	OMIM:217090
HP:0010576	Intracranial cystic lesion	1717	DHCR7	OMIM:270400
HP:0010576	Intracranial cystic lesion	84314	TMEM107	ORPHA:564
HP:0010576	Intracranial cystic lesion	26123	TCTN3	ORPHA:564
HP:0010576	Intracranial cystic lesion	79867	TCTN2	ORPHA:564
HP:0010576	Intracranial cystic lesion	80776	B9D2	ORPHA:564
HP:0010576	Intracranial cystic lesion	80776	B9D2	OMIM:614175
HP:0010576	Intracranial cystic lesion	79600	TCTN1	ORPHA:564
HP:0010576	Intracranial cystic lesion	57096	RPGRIP1	ORPHA:564
HP:0010576	Intracranial cystic lesion	80184	CEP290	ORPHA:564
HP:0010576	Intracranial cystic lesion	80184	CEP290	OMIM:611134
HP:0010576	Intracranial cystic lesion	57545	CC2D2A	ORPHA:564
HP:0010576	Intracranial cystic lesion	91147	TMEM67	ORPHA:564
HP:0010576	Intracranial cystic lesion	91147	TMEM67	OMIM:607361
HP:0010576	Intracranial cystic lesion	79770	TXNDC15	ORPHA:564
HP:0010576	Intracranial cystic lesion	27077	B9D1	ORPHA:564
HP:0010576	Intracranial cystic lesion	23322	RPGRIP1L	ORPHA:564
HP:0010576	Intracranial cystic lesion	54903	MKS1	ORPHA:564
HP:0010576	Intracranial cystic lesion	54903	MKS1	OMIM:249000
HP:0010576	Intracranial cystic lesion	27031	NPHP3	OMIM:267010
HP:0010576	Intracranial cystic lesion	27031	NPHP3	OMIM:208540
HP:0010576	Intracranial cystic lesion	27031	NPHP3	ORPHA:3032
HP:0010576	Intracranial cystic lesion	23258	DENND5A	OMIM:617281
HP:0010576	Intracranial cystic lesion	171023	ASXL1	ORPHA:97297
HP:0010576	Intracranial cystic lesion	171023	ASXL1	OMIM:605039
HP:0010576	Intracranial cystic lesion	9184	BUB3	ORPHA:1052
HP:0010576	Intracranial cystic lesion	699	BUB1	ORPHA:1052
HP:0010576	Intracranial cystic lesion	9702	CEP57	ORPHA:1052
HP:0010576	Intracranial cystic lesion	9319	TRIP13	ORPHA:1052
HP:0010576	Intracranial cystic lesion	701	BUB1B	ORPHA:1052
HP:0010576	Intracranial cystic lesion	701	BUB1B	OMIM:257300
HP:0010576	Intracranial cystic lesion	84188	FAR1	ORPHA:438178
HP:0010576	Intracranial cystic lesion	84188	FAR1	OMIM:616154
HP:0010576	Intracranial cystic lesion	2260	FGFR1	OMIM:613001
HP:0010576	Intracranial cystic lesion	124997	WDR81	OMIM:617967
HP:0010576	Intracranial cystic lesion	2683	B4GALT1	OMIM:607091
HP:0010576	Intracranial cystic lesion	2683	B4GALT1	ORPHA:79332
HP:0010576	Intracranial cystic lesion	26005	C2CD3	OMIM:615948
HP:0010576	Intracranial cystic lesion	26005	C2CD3	ORPHA:434179
HP:0010576	Intracranial cystic lesion	26227	PHGDH	OMIM:256520
HP:0010576	Intracranial cystic lesion	10804	GJB6	ORPHA:477
HP:0010576	Intracranial cystic lesion	2706	GJB2	ORPHA:477
HP:0010576	Intracranial cystic lesion	4927	NUP88	ORPHA:994
HP:0010576	Intracranial cystic lesion	7846	TUBA1A	ORPHA:994
HP:0010576	Intracranial cystic lesion	4654	MYOD1	ORPHA:994
HP:0010576	Intracranial cystic lesion	4593	MUSK	ORPHA:994
HP:0010576	Intracranial cystic lesion	5913	RAPSN	ORPHA:994
HP:0010576	Intracranial cystic lesion	6572	SLC18A3	ORPHA:994
HP:0010576	Intracranial cystic lesion	285489	DOK7	ORPHA:994
HP:0010576	Intracranial cystic lesion	7737	RNF113A	OMIM:300953
HP:0010576	Intracranial cystic lesion	56006	SMG9	OMIM:616920
HP:0010576	Intracranial cystic lesion	998	CDC42	ORPHA:487796
HP:0010576	Intracranial cystic lesion	51524	TMEM138	OMIM:614465
HP:0010576	Intracranial cystic lesion	8239	USP9X	ORPHA:480880
HP:0010576	Intracranial cystic lesion	8239	USP9X	OMIM:300968
HP:0010576	Intracranial cystic lesion	11128	POLR3A	OMIM:264090
HP:0010576	Intracranial cystic lesion	4534	MTM1	OMIM:310400
HP:0010576	Intracranial cystic lesion	526	ATP6V1B2	ORPHA:79500
HP:0010576	Intracranial cystic lesion	54880	BCOR	OMIM:300166
HP:0010576	Intracranial cystic lesion	203068	TUBB	OMIM:156610
HP:0010576	Intracranial cystic lesion	55640	FLVCR2	OMIM:225790
HP:0010576	Intracranial cystic lesion	28952	CCDC22	OMIM:300963
HP:0010576	Intracranial cystic lesion	28952	CCDC22	ORPHA:7
HP:0010576	Intracranial cystic lesion	80210	ARMC9	OMIM:617622
HP:0010576	Intracranial cystic lesion	5500	PPP1CB	OMIM:617506
HP:0010576	Intracranial cystic lesion	54676	GTPBP2	OMIM:617988
HP:0010576	Intracranial cystic lesion	5373	PMM2	ORPHA:79318
HP:0010576	Intracranial cystic lesion	63895	PIEZO2	OMIM:248700
HP:0010576	Intracranial cystic lesion	2239	GPC4	ORPHA:373
HP:0010576	Intracranial cystic lesion	2719	GPC3	ORPHA:373
HP:0010576	Intracranial cystic lesion	2121	EVC	OMIM:225500
HP:0010576	Intracranial cystic lesion	132884	EVC2	OMIM:225500
HP:0010576	Intracranial cystic lesion	153241	CEP120	OMIM:616300
HP:0010576	Intracranial cystic lesion	523	ATP6V1A	ORPHA:357074
HP:0010576	Intracranial cystic lesion	529	ATP6V1E1	ORPHA:357074
HP:0010576	Intracranial cystic lesion	3798	KIF5A	OMIM:617235
HP:0010576	Intracranial cystic lesion	1028	CDKN1C	OMIM:130650
HP:0010576	Intracranial cystic lesion	10984	KCNQ1OT1	OMIM:130650
HP:0010576	Intracranial cystic lesion	3481	IGF2	OMIM:130650
HP:0010576	Intracranial cystic lesion	3784	KCNQ1	OMIM:130650
HP:0010576	Intracranial cystic lesion	738	VPS51	OMIM:618606
HP:0010576	Intracranial cystic lesion	1376	CPT2	ORPHA:228305
HP:0010576	Intracranial cystic lesion	10195	ALG3	ORPHA:79321
HP:0010576	Intracranial cystic lesion	219844	HYLS1	OMIM:236680
HP:0010576	Intracranial cystic lesion	4281	MID1	ORPHA:2745
HP:0010576	Intracranial cystic lesion	8905	AP1S2	OMIM:304340
HP:0010576	Intracranial cystic lesion	29925	GMPPB	ORPHA:370959
HP:0010576	Intracranial cystic lesion	79147	FKRP	ORPHA:370959
HP:0010576	Intracranial cystic lesion	79147	FKRP	OMIM:606612
HP:0010576	Intracranial cystic lesion	79147	FKRP	OMIM:613153
HP:0010576	Intracranial cystic lesion	79147	FKRP	ORPHA:370980
HP:0010576	Intracranial cystic lesion	29954	POMT2	ORPHA:370959
HP:0010576	Intracranial cystic lesion	29954	POMT2	OMIM:613150
HP:0010576	Intracranial cystic lesion	84197	POMK	ORPHA:370959
HP:0010576	Intracranial cystic lesion	55624	POMGNT1	ORPHA:370959
HP:0010576	Intracranial cystic lesion	55624	POMGNT1	OMIM:613151
HP:0010576	Intracranial cystic lesion	55624	POMGNT1	OMIM:253280
HP:0010576	Intracranial cystic lesion	10585	POMT1	ORPHA:370959
HP:0010576	Intracranial cystic lesion	10585	POMT1	ORPHA:370980
HP:0010576	Intracranial cystic lesion	148789	B3GALNT2	OMIM:615181
HP:0010576	Intracranial cystic lesion	79659	DYNC2H1	OMIM:613091
HP:0010576	Intracranial cystic lesion	1281	COL3A1	OMIM:618343
HP:0010576	Intracranial cystic lesion	283989	TSEN54	ORPHA:2524
HP:0010576	Intracranial cystic lesion	116461	TSEN15	ORPHA:2524
HP:0010576	Intracranial cystic lesion	79042	TSEN34	ORPHA:2524
HP:0010576	Intracranial cystic lesion	80746	TSEN2	ORPHA:2524
HP:0010576	Intracranial cystic lesion	51091	SEPSECS	ORPHA:2524
HP:0010576	Intracranial cystic lesion	284217	LAMA1	OMIM:615960
HP:0010576	Intracranial cystic lesion	284217	LAMA1	ORPHA:370022
HP:0010576	Intracranial cystic lesion	8481	OFD1	OMIM:311200
HP:0010576	Intracranial cystic lesion	1605	DAG1	OMIM:616538
HP:0010576	Intracranial cystic lesion	1605	DAG1	ORPHA:370997
HP:0010576	Intracranial cystic lesion	11340	EXOSC8	ORPHA:2254
HP:0010576	Intracranial cystic lesion	5393	EXOSC9	ORPHA:2254
HP:0010576	Intracranial cystic lesion	23287	AGTPBP1	ORPHA:2254
HP:0010576	Intracranial cystic lesion	51010	EXOSC3	ORPHA:2254
HP:0010576	Intracranial cystic lesion	51010	EXOSC3	OMIM:614678
HP:0010576	Intracranial cystic lesion	7443	VRK1	ORPHA:2254
HP:0010576	Intracranial cystic lesion	91137	SLC25A46	ORPHA:2254
HP:0010576	Intracranial cystic lesion	2218	FKTN	ORPHA:370980
HP:0010576	Intracranial cystic lesion	2218	FKTN	OMIM:253800
HP:0010576	Intracranial cystic lesion	729920	CRPPA	ORPHA:370980
HP:0010576	Intracranial cystic lesion	9361	LONP1	ORPHA:79243
HP:0010576	Intracranial cystic lesion	5160	PDHA1	ORPHA:79243
HP:0010576	Intracranial cystic lesion	10844	TUBGCP2	OMIM:618737
HP:0010576	Intracranial cystic lesion	728294	D2HGDH	OMIM:600721
HP:0010576	Intracranial cystic lesion	2752	GLUL	OMIM:610015
HP:0010576	Intracranial cystic lesion	25828	TXN2	OMIM:616811
HP:0010576	Intracranial cystic lesion	25828	TXN2	ORPHA:478029
HP:0010576	Intracranial cystic lesion	5189	PEX1	OMIM:214100
HP:0010576	Intracranial cystic lesion	85476	GFM1	OMIM:609060
HP:0010576	Intracranial cystic lesion	4508	MT-ATP6	ORPHA:225154
HP:0010576	Intracranial cystic lesion	23636	NUP62	ORPHA:225154
HP:0010576	Intracranial cystic lesion	103	ADAR	ORPHA:225154
HP:0010576	Intracranial cystic lesion	4983	OPHN1	OMIM:300486
HP:0010576	Intracranial cystic lesion	4983	OPHN1	ORPHA:137831
HP:0010576	Intracranial cystic lesion	2892	GRIA3	ORPHA:364028
HP:0010576	Intracranial cystic lesion	160418	TMTC3	OMIM:617255
HP:0010576	Intracranial cystic lesion	27245	AHDC1	ORPHA:412069
HP:0010576	Intracranial cystic lesion	27245	AHDC1	OMIM:615829
HP:0010576	Intracranial cystic lesion	2911	GRM1	OMIM:614831
HP:0010576	Intracranial cystic lesion	57688	ZSWIM6	ORPHA:1827
HP:0010576	Intracranial cystic lesion	57688	ZSWIM6	OMIM:603671
HP:0010576	Intracranial cystic lesion	57572	DOCK6	OMIM:614219
HP:0010576	Intracranial cystic lesion	57231	SNX14	ORPHA:397709
HP:0010576	Intracranial cystic lesion	387787	LIPT2	OMIM:617668
HP:0010576	Intracranial cystic lesion	4953	ODC1	OMIM:619075
HP:0010576	Intracranial cystic lesion	4953	ODC1	ORPHA:544488
HP:0010576	Intracranial cystic lesion	5162	PDHB	ORPHA:255138
HP:0010576	Intracranial cystic lesion	53834	FGFRL1	OMIM:194190
HP:0010576	Intracranial cystic lesion	1487	CTBP1	OMIM:194190
HP:0010576	Intracranial cystic lesion	3954	LETM1	OMIM:194190
HP:0010576	Intracranial cystic lesion	7468	NSD2	OMIM:194190
HP:0010576	Intracranial cystic lesion	10815	CPLX1	OMIM:194190
HP:0010576	Intracranial cystic lesion	2670	GFAP	ORPHA:363722
HP:0010576	Intracranial cystic lesion	4952	OCRL	OMIM:309000
HP:0010576	Intracranial cystic lesion	8050	PDHX	ORPHA:255182
HP:0010576	Intracranial cystic lesion	790955	UQCC3	OMIM:616111
HP:0010576	Intracranial cystic lesion	2193	FARSA	OMIM:619013
HP:0010576	Intracranial cystic lesion	9897	WASHC5	OMIM:220210
HP:0010576	Intracranial cystic lesion	2073	ERCC5	OMIM:616570
HP:0010576	Intracranial cystic lesion	30813	VSX1	OMIM:614195
HP:0010576	Intracranial cystic lesion	23007	PLCH1	OMIM:619895
HP:0010576	Intracranial cystic lesion	392255	GDF6	OMIM:118100
HP:0010576	Intracranial cystic lesion	5159	PDGFRB	OMIM:601812
HP:0010576	Intracranial cystic lesion	18	ABAT	OMIM:613163
HP:0010576	Intracranial cystic lesion	79848	CSPP1	OMIM:615636
HP:0010576	Intracranial cystic lesion	1801	DPH1	ORPHA:459061
HP:0010576	Intracranial cystic lesion	9215	LARGE1	OMIM:236670
HP:0010576	Intracranial cystic lesion	2263	FGFR2	OMIM:101200
HP:0010576	Intracranial cystic lesion	727676	SNORD118	ORPHA:542310
HP:0010576	Intracranial cystic lesion	374654	KIF7	OMIM:200990
HP:0010576	Intracranial cystic lesion	1499	CTNNB1	ORPHA:54595
HP:0010576	Intracranial cystic lesion	673	BRAF	ORPHA:54595
HP:0010576	Intracranial cystic lesion	3417	IDH1	ORPHA:99646
HP:0010576	Intracranial cystic lesion	22827	PUF60	ORPHA:508498
HP:0010576	Intracranial cystic lesion	79971	WLS	OMIM:619648
HP:0010576	Intracranial cystic lesion	79583	TMEM231	ORPHA:2752
HP:0010576	Intracranial cystic lesion	57104	PNPLA2	ORPHA:98908
HP:0010576	Intracranial cystic lesion	23394	ADNP	OMIM:615873
HP:0010576	Intracranial cystic lesion	5718	PSMD12	OMIM:617516
HP:0010576	Intracranial cystic lesion	5718	PSMD12	ORPHA:529962
HP:0010576	Intracranial cystic lesion	80232	WDR26	ORPHA:513456
HP:0010576	Intracranial cystic lesion	3845	KRAS	OMIM:600268
HP:0010576	Intracranial cystic lesion	284058	KANSL1	ORPHA:363965
HP:0010576	Intracranial cystic lesion	284058	KANSL1	ORPHA:363958
HP:0010576	Intracranial cystic lesion	4841	NONO	OMIM:300967
HP:0010576	Intracranial cystic lesion	2590	GALNT2	OMIM:618885
HP:0010576	Intracranial cystic lesion	2186	BPTF	ORPHA:529962
HP:0010575	Dysplasia of the femoral head	3313	HSPA9	OMIM:616854
HP:0010575	Dysplasia of the femoral head	126792	B3GALT6	ORPHA:536467
HP:0010575	Dysplasia of the femoral head	126792	B3GALT6	OMIM:615349
HP:0010575	Dysplasia of the femoral head	6399	TRAPPC2	ORPHA:93284
HP:0010575	Dysplasia of the femoral head	3549	IHH	OMIM:607778
HP:0010575	Dysplasia of the femoral head	1280	COL2A1	ORPHA:94068
HP:0010575	Dysplasia of the femoral head	10651	MTX2	OMIM:619127
HP:0007530	Punctate palmoplantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0007530	Punctate palmoplantar hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0007530	Punctate palmoplantar hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0007530	Punctate palmoplantar hyperkeratosis	3861	KRT14	ORPHA:69087
HP:0007530	Punctate palmoplantar hyperkeratosis	831	CAST	OMIM:616295
HP:0007530	Punctate palmoplantar hyperkeratosis	79719	AAGAB	OMIM:148600
HP:0007530	Punctate palmoplantar hyperkeratosis	3852	KRT5	OMIM:131960
HP:0007605	Excessive wrinkling of palmar skin	715	C1R	OMIM:130080
HP:0007605	Excessive wrinkling of palmar skin	2261	FGFR3	OMIM:616482
HP:0007605	Excessive wrinkling of palmar skin	22808	MRAS	OMIM:618499
HP:0007605	Excessive wrinkling of palmar skin	5351	PLOD1	OMIM:225400
HP:0007605	Excessive wrinkling of palmar skin	8216	LZTR1	OMIM:616564
HP:0007605	Excessive wrinkling of palmar skin	8216	LZTR1	OMIM:605275
HP:0007605	Excessive wrinkling of palmar skin	84627	ZNF469	OMIM:229200
HP:0007605	Excessive wrinkling of palmar skin	6016	RIT1	OMIM:615355
HP:0007605	Excessive wrinkling of palmar skin	2263	FGFR2	OMIM:123790
HP:0007605	Excessive wrinkling of palmar skin	23545	ATP6V0A2	OMIM:278250
HP:0007605	Excessive wrinkling of palmar skin	9333	TGM5	ORPHA:263534
HP:0007605	Excessive wrinkling of palmar skin	1475	CSTA	ORPHA:263534
HP:0007605	Excessive wrinkling of palmar skin	79718	TBL1XR1	ORPHA:487825
HP:0007534	Congenital posterior occipital alopecia	3265	HRAS	ORPHA:79414
HP:0000370	Abnormality of the middle ear	5718	PSMD12	ORPHA:529962
HP:0000370	Abnormality of the middle ear	2186	BPTF	ORPHA:529962
HP:0000370	Abnormality of the middle ear	392255	GDF6	OMIM:617898
HP:0000370	Abnormality of the middle ear	3423	IDS	ORPHA:217085
HP:0000370	Abnormality of the middle ear	3423	IDS	ORPHA:217093
HP:0000370	Abnormality of the middle ear	1277	COL1A1	OMIM:166220
HP:0000370	Abnormality of the middle ear	1277	COL1A1	OMIM:166200
HP:0000370	Abnormality of the middle ear	1278	COL1A2	OMIM:166220
HP:0000370	Abnormality of the middle ear	8626	TP63	ORPHA:1896
HP:0000370	Abnormality of the middle ear	1723	DHODH	ORPHA:246
HP:0000370	Abnormality of the middle ear	84172	POLR1B	ORPHA:861
HP:0000370	Abnormality of the middle ear	9533	POLR1C	ORPHA:861
HP:0000370	Abnormality of the middle ear	51082	POLR1D	ORPHA:861
HP:0000370	Abnormality of the middle ear	6949	TCOF1	ORPHA:861
HP:0000370	Abnormality of the middle ear	6899	TBX1	OMIM:188400
HP:0000370	Abnormality of the middle ear	341640	FREM2	ORPHA:2052
HP:0000370	Abnormality of the middle ear	23426	GRIP1	ORPHA:2052
HP:0000370	Abnormality of the middle ear	5184	PEPD	ORPHA:742
HP:0000370	Abnormality of the middle ear	64840	PORCN	ORPHA:2092
HP:0000370	Abnormality of the middle ear	5340	PLG	ORPHA:722
HP:0000370	Abnormality of the middle ear	5994	RFXAP	ORPHA:572
HP:0000370	Abnormality of the middle ear	4261	CIITA	ORPHA:572
HP:0000370	Abnormality of the middle ear	5993	RFX5	ORPHA:572
HP:0000370	Abnormality of the middle ear	8625	RFXANK	ORPHA:572
HP:0000370	Abnormality of the middle ear	3718	JAK3	ORPHA:35078
HP:0000370	Abnormality of the middle ear	7840	ALMS1	ORPHA:64
HP:0000370	Abnormality of the middle ear	7840	ALMS1	OMIM:203800
HP:0000370	Abnormality of the middle ear	919	CD247	ORPHA:169160
HP:0000370	Abnormality of the middle ear	64421	DCLRE1C	ORPHA:275
HP:0000370	Abnormality of the middle ear	64421	DCLRE1C	OMIM:602450
HP:0000370	Abnormality of the middle ear	6711	SPTBN1	OMIM:619475
HP:0000370	Abnormality of the middle ear	4860	PNP	OMIM:613179
HP:0000370	Abnormality of the middle ear	92579	G6PC3	OMIM:612541
HP:0000370	Abnormality of the middle ear	3561	IL2RG	OMIM:312863
HP:0000370	Abnormality of the middle ear	10312	TCIRG1	ORPHA:667
HP:0000370	Abnormality of the middle ear	1186	CLCN7	ORPHA:667
HP:0000370	Abnormality of the middle ear	29887	SNX10	ORPHA:667
HP:0000370	Abnormality of the middle ear	8600	TNFSF11	ORPHA:667
HP:0000370	Abnormality of the middle ear	11011	TLK2	OMIM:618050
HP:0000370	Abnormality of the middle ear	641	BLM	ORPHA:125
HP:0000370	Abnormality of the middle ear	5896	RAG1	OMIM:601457
HP:0000370	Abnormality of the middle ear	5897	RAG2	OMIM:601457
HP:0000370	Abnormality of the middle ear	7852	CXCR4	ORPHA:51636
HP:0000370	Abnormality of the middle ear	165918	RNF168	ORPHA:420741
HP:0000370	Abnormality of the middle ear	1536	CYBB	ORPHA:379
HP:0000370	Abnormality of the middle ear	4688	NCF2	ORPHA:379
HP:0000370	Abnormality of the middle ear	1535	CYBA	ORPHA:379
HP:0000370	Abnormality of the middle ear	4689	NCF4	ORPHA:379
HP:0000370	Abnormality of the middle ear	79415	CYBC1	ORPHA:379
HP:0000370	Abnormality of the middle ear	1991	ELANE	ORPHA:2686
HP:0000370	Abnormality of the middle ear	6804	STX1A	ORPHA:904
HP:0000370	Abnormality of the middle ear	7461	CLIP2	ORPHA:904
HP:0000370	Abnormality of the middle ear	84277	DNAJC30	ORPHA:904
HP:0000370	Abnormality of the middle ear	8468	FKBP6	ORPHA:904
HP:0000370	Abnormality of the middle ear	5982	RFC2	ORPHA:904
HP:0000370	Abnormality of the middle ear	2969	GTF2I	ORPHA:904
HP:0000370	Abnormality of the middle ear	3984	LIMK1	ORPHA:904
HP:0000370	Abnormality of the middle ear	9569	GTF2IRD1	ORPHA:904
HP:0000370	Abnormality of the middle ear	155382	VPS37D	ORPHA:904
HP:0000370	Abnormality of the middle ear	155368	METTL27	ORPHA:904
HP:0000370	Abnormality of the middle ear	114049	BUD23	ORPHA:904
HP:0000370	Abnormality of the middle ear	7458	EIF4H	ORPHA:904
HP:0000370	Abnormality of the middle ear	84163	GTF2IRD2	ORPHA:904
HP:0000370	Abnormality of the middle ear	9275	BCL7B	ORPHA:904
HP:0000370	Abnormality of the middle ear	26608	TBL2	ORPHA:904
HP:0000370	Abnormality of the middle ear	653361	NCF1	ORPHA:904
HP:0000370	Abnormality of the middle ear	135886	TMEM270	ORPHA:904
HP:0000370	Abnormality of the middle ear	9031	BAZ1B	ORPHA:904
HP:0000370	Abnormality of the middle ear	7456	WIPF1	ORPHA:906
HP:0000370	Abnormality of the middle ear	6890	TAP1	OMIM:604571
HP:0000370	Abnormality of the middle ear	6891	TAP2	OMIM:604571
HP:0000370	Abnormality of the middle ear	6892	TAPBP	OMIM:604571
HP:0000370	Abnormality of the middle ear	1493	CTLA4	ORPHA:900
HP:0000370	Abnormality of the middle ear	3115	HLA-DPB1	ORPHA:900
HP:0000370	Abnormality of the middle ear	5657	PRTN3	ORPHA:900
HP:0000370	Abnormality of the middle ear	3113	HLA-DPA1	ORPHA:900
HP:0000370	Abnormality of the middle ear	2624	GATA2	ORPHA:3226
HP:0000370	Abnormality of the middle ear	6872	TAF1	OMIM:300966
HP:0000370	Abnormality of the middle ear	6872	TAF1	ORPHA:480907
HP:0000370	Abnormality of the middle ear	25790	CFAP45	OMIM:619608
HP:0000370	Abnormality of the middle ear	4952	OCRL	ORPHA:534
HP:0000370	Abnormality of the middle ear	6774	STAT3	ORPHA:2314
HP:0000370	Abnormality of the middle ear	23483	TGDS	ORPHA:1388
HP:0000370	Abnormality of the middle ear	64359	NXN	ORPHA:1507
HP:0000370	Abnormality of the middle ear	4920	ROR2	ORPHA:1507
HP:0000370	Abnormality of the middle ear	8604	SLC25A12	OMIM:612949
HP:0000370	Abnormality of the middle ear	9496	TBX4	ORPHA:261279
HP:0000370	Abnormality of the middle ear	54872	PIGG	ORPHA:280
HP:0000370	Abnormality of the middle ear	7469	NELFA	ORPHA:280
HP:0000370	Abnormality of the middle ear	7161	TP73	OMIM:619466
HP:0000370	Abnormality of the middle ear	146206	CARMIL2	OMIM:618131
HP:0000370	Abnormality of the middle ear	860	RUNX2	ORPHA:1452
HP:0000370	Abnormality of the middle ear	4790	NFKB1	ORPHA:1572
HP:0000370	Abnormality of the middle ear	8742	TNFSF12	ORPHA:1572
HP:0000370	Abnormality of the middle ear	931	MS4A1	ORPHA:1572
HP:0000370	Abnormality of the middle ear	975	CD81	ORPHA:1572
HP:0000370	Abnormality of the middle ear	359948	IRF2BP2	ORPHA:1572
HP:0000370	Abnormality of the middle ear	175	AGA	ORPHA:93
HP:0000370	Abnormality of the middle ear	204	AK2	ORPHA:33355
HP:0000370	Abnormality of the middle ear	151516	ASPRV1	ORPHA:313
HP:0000370	Abnormality of the middle ear	242	ALOX12B	ORPHA:313
HP:0000370	Abnormality of the middle ear	126410	CYP4F22	ORPHA:313
HP:0000370	Abnormality of the middle ear	6820	SULT2B1	ORPHA:313
HP:0000370	Abnormality of the middle ear	26154	ABCA12	ORPHA:313
HP:0000370	Abnormality of the middle ear	643418	LIPN	ORPHA:313
HP:0000370	Abnormality of the middle ear	59344	ALOXE3	ORPHA:313
HP:0000370	Abnormality of the middle ear	348938	NIPAL4	ORPHA:313
HP:0000370	Abnormality of the middle ear	121214	SDR9C7	ORPHA:313
HP:0000370	Abnormality of the middle ear	7051	TGM1	ORPHA:313
HP:0000370	Abnormality of the middle ear	5295	PIK3R1	ORPHA:33110
HP:0000370	Abnormality of the middle ear	56262	LRRC8A	ORPHA:33110
HP:0000370	Abnormality of the middle ear	100	ADA	ORPHA:277
HP:0000370	Abnormality of the middle ear	4791	NFKB2	ORPHA:293978
HP:0000370	Abnormality of the middle ear	4791	NFKB2	OMIM:615577
HP:0000370	Abnormality of the middle ear	3071	NCKAP1L	OMIM:618982
HP:0000370	Abnormality of the middle ear	8367	H4C5	OMIM:619950
HP:0000370	Abnormality of the middle ear	5728	PTEN	OMIM:605309
HP:0000370	Abnormality of the middle ear	5880	RAC2	OMIM:618986
HP:0000370	Abnormality of the middle ear	987	LRBA	OMIM:614700
HP:0000370	Abnormality of the middle ear	64682	ANAPC1	OMIM:618625
HP:0000370	Abnormality of the middle ear	7174	TPP2	ORPHA:444463
HP:0000370	Abnormality of the middle ear	7174	TPP2	OMIM:619220
HP:0000370	Abnormality of the middle ear	9839	ZEB2	OMIM:235730
HP:0000370	Abnormality of the middle ear	9839	ZEB2	ORPHA:261552
HP:0000370	Abnormality of the middle ear	9839	ZEB2	ORPHA:261537
HP:0000370	Abnormality of the middle ear	80232	WDR26	ORPHA:513456
HP:0000370	Abnormality of the middle ear	80232	WDR26	OMIM:617616
HP:0000370	Abnormality of the middle ear	89765	RSPH1	OMIM:615481
HP:0000370	Abnormality of the middle ear	89765	RSPH1	ORPHA:244
HP:0000370	Abnormality of the middle ear	161582	DNAAF4	OMIM:615482
HP:0000370	Abnormality of the middle ear	161582	DNAAF4	ORPHA:244
HP:0000370	Abnormality of the middle ear	9578	CDC42BPB	OMIM:619841
HP:0000370	Abnormality of the middle ear	4487	MSX1	ORPHA:199306
HP:0000370	Abnormality of the middle ear	5818	NECTIN1	ORPHA:199306
HP:0000370	Abnormality of the middle ear	1739	DLG1	ORPHA:199306
HP:0000370	Abnormality of the middle ear	652	BMP4	ORPHA:199306
HP:0000370	Abnormality of the middle ear	999	CDH1	ORPHA:199306
HP:0000370	Abnormality of the middle ear	5156	PDGFRA	ORPHA:199306
HP:0000370	Abnormality of the middle ear	3664	IRF6	ORPHA:199306
HP:0000370	Abnormality of the middle ear	9411	ARHGAP29	ORPHA:199306
HP:0000370	Abnormality of the middle ear	1748	DLX4	ORPHA:199306
HP:0000370	Abnormality of the middle ear	51111	KMT5B	OMIM:617788
HP:0000370	Abnormality of the middle ear	146845	CFAP52	OMIM:619607
HP:0000370	Abnormality of the middle ear	973	CD79A	OMIM:613501
HP:0000370	Abnormality of the middle ear	3543	IGLL1	OMIM:613500
HP:0000370	Abnormality of the middle ear	6595	SMARCA2	ORPHA:2728
HP:0000370	Abnormality of the middle ear	144568	A2ML1	OMIM:166760
HP:0000370	Abnormality of the middle ear	29760	BLNK	OMIM:613502
HP:0000370	Abnormality of the middle ear	79158	GNPTAB	OMIM:252500
HP:0000370	Abnormality of the middle ear	8382	NME5	OMIM:620032
HP:0000370	Abnormality of the middle ear	1301	COL11A1	OMIM:154780
HP:0000370	Abnormality of the middle ear	54	ACP5	OMIM:607944
HP:0000370	Abnormality of the middle ear	56992	KIF15	ORPHA:261323
HP:0000370	Abnormality of the middle ear	23495	TNFRSF13B	OMIM:240500
HP:0000370	Abnormality of the middle ear	115650	TNFRSF13C	OMIM:240500
HP:0000370	Abnormality of the middle ear	1380	CR2	OMIM:240500
HP:0000370	Abnormality of the middle ear	29851	ICOS	OMIM:240500
HP:0000370	Abnormality of the middle ear	29851	ICOS	OMIM:607594
HP:0000370	Abnormality of the middle ear	930	CD19	OMIM:240500
HP:0000370	Abnormality of the middle ear	930	CD19	OMIM:613493
HP:0000370	Abnormality of the middle ear	123872	DNAAF1	OMIM:613193
HP:0000370	Abnormality of the middle ear	123872	DNAAF1	ORPHA:244
HP:0000370	Abnormality of the middle ear	284058	KANSL1	ORPHA:363958
HP:0000370	Abnormality of the middle ear	284058	KANSL1	ORPHA:363965
HP:0000370	Abnormality of the middle ear	3572	IL6ST	OMIM:618523
HP:0000370	Abnormality of the middle ear	8546	AP3B1	OMIM:608233
HP:0000370	Abnormality of the middle ear	1717	DHCR7	OMIM:270400
HP:0000370	Abnormality of the middle ear	28755	TRAC	OMIM:615387
HP:0000370	Abnormality of the middle ear	6885	MAP3K7	OMIM:157800
HP:0000370	Abnormality of the middle ear	2783	GNB2	OMIM:619503
HP:0000370	Abnormality of the middle ear	3425	IDUA	OMIM:607014
HP:0000370	Abnormality of the middle ear	2214	FCGR3A	OMIM:615707
HP:0000370	Abnormality of the middle ear	30011	SH3KBP1	OMIM:300310
HP:0000370	Abnormality of the middle ear	83861	RSPH3	OMIM:616481
HP:0000370	Abnormality of the middle ear	83861	RSPH3	ORPHA:244
HP:0000370	Abnormality of the middle ear	56006	SMG9	OMIM:619995
HP:0000370	Abnormality of the middle ear	8260	NAA10	OMIM:309800
HP:0000370	Abnormality of the middle ear	8260	NAA10	OMIM:300855
HP:0000370	Abnormality of the middle ear	54880	BCOR	OMIM:309800
HP:0000370	Abnormality of the middle ear	54914	FOCAD	OMIM:619991
HP:0000370	Abnormality of the middle ear	6135	RPL11	OMIM:612562
HP:0000370	Abnormality of the middle ear	64446	DNAI2	OMIM:612444
HP:0000370	Abnormality of the middle ear	64446	DNAI2	ORPHA:244
HP:0000370	Abnormality of the middle ear	54499	TMCO1	OMIM:213980
HP:0000370	Abnormality of the middle ear	55343	SLC35C1	OMIM:266265
HP:0000370	Abnormality of the middle ear	55343	SLC35C1	ORPHA:99843
HP:0000370	Abnormality of the middle ear	3507	IGHM	OMIM:601495
HP:0000370	Abnormality of the middle ear	8314	BAP1	OMIM:619762
HP:0000370	Abnormality of the middle ear	27086	FOXP1	ORPHA:391372
HP:0000370	Abnormality of the middle ear	5594	MAPK1	OMIM:619087
HP:0000370	Abnormality of the middle ear	5971	RELB	OMIM:617585
HP:0000370	Abnormality of the middle ear	4256	MGP	ORPHA:85202
HP:0000370	Abnormality of the middle ear	4256	MGP	OMIM:245150
HP:0000370	Abnormality of the middle ear	974	CD79B	OMIM:612692
HP:0000370	Abnormality of the middle ear	113179	ADAT3	OMIM:615286
HP:0000370	Abnormality of the middle ear	113179	ADAT3	ORPHA:363528
HP:0000370	Abnormality of the middle ear	54919	DNAAF5	OMIM:614874
HP:0000370	Abnormality of the middle ear	54919	DNAAF5	ORPHA:244
HP:0000370	Abnormality of the middle ear	2542	SLC37A4	OMIM:619525
HP:0000370	Abnormality of the middle ear	917	CD3G	OMIM:615607
HP:0000370	Abnormality of the middle ear	51085	MLXIPL	OMIM:194050
HP:0000370	Abnormality of the middle ear	2006	ELN	OMIM:194050
HP:0000370	Abnormality of the middle ear	11128	POLR3A	ORPHA:3455
HP:0000370	Abnormality of the middle ear	3373	HYAL1	OMIM:601492
HP:0000370	Abnormality of the middle ear	2535	FZD2	OMIM:164745
HP:0000370	Abnormality of the middle ear	7030	TFE3	OMIM:301066
HP:0000370	Abnormality of the middle ear	92749	DRC1	OMIM:615294
HP:0000370	Abnormality of the middle ear	92749	DRC1	ORPHA:244
HP:0000370	Abnormality of the middle ear	3978	LIG1	OMIM:619774
HP:0000370	Abnormality of the middle ear	6603	SMARCD2	OMIM:617475
HP:0000370	Abnormality of the middle ear	84522	JAGN1	OMIM:616022
HP:0000370	Abnormality of the middle ear	6929	TCF3	OMIM:616941
HP:0000370	Abnormality of the middle ear	7994	KAT6A	OMIM:616268
HP:0000370	Abnormality of the middle ear	3551	IKBKB	OMIM:618204
HP:0000370	Abnormality of the middle ear	916	CD3E	OMIM:615615
HP:0000370	Abnormality of the middle ear	3930	LBR	OMIM:169400
HP:0000370	Abnormality of the middle ear	246176	GAS2L2	OMIM:618449
HP:0000370	Abnormality of the middle ear	246176	GAS2L2	ORPHA:244
HP:0000370	Abnormality of the middle ear	915	CD3D	OMIM:615617
HP:0000370	Abnormality of the middle ear	3514	IGKC	ORPHA:183675
HP:0000370	Abnormality of the middle ear	3501	IGHG2	ORPHA:183675
HP:0000370	Abnormality of the middle ear	51311	TLR8	OMIM:301078
HP:0000370	Abnormality of the middle ear	25981	DNAH1	ORPHA:244
HP:0000370	Abnormality of the middle ear	115948	ODAD3	ORPHA:244
HP:0000370	Abnormality of the middle ear	115948	ODAD3	OMIM:616037
HP:0000370	Abnormality of the middle ear	54768	HYDIN	ORPHA:244
HP:0000370	Abnormality of the middle ear	54768	HYDIN	OMIM:608647
HP:0000370	Abnormality of the middle ear	352909	DNAAF3	ORPHA:244
HP:0000370	Abnormality of the middle ear	27148	STK36	ORPHA:244
HP:0000370	Abnormality of the middle ear	27148	STK36	OMIM:619436
HP:0000370	Abnormality of the middle ear	51314	NME8	ORPHA:244
HP:0000370	Abnormality of the middle ear	54970	TTC12	ORPHA:244
HP:0000370	Abnormality of the middle ear	152110	NEK10	ORPHA:244
HP:0000370	Abnormality of the middle ear	8481	OFD1	ORPHA:244
HP:0000370	Abnormality of the middle ear	2302	FOXJ1	ORPHA:244
HP:0000370	Abnormality of the middle ear	221421	RSPH9	ORPHA:244
HP:0000370	Abnormality of the middle ear	85478	CCDC65	ORPHA:244
HP:0000370	Abnormality of the middle ear	85478	CCDC65	OMIM:615504
HP:0000370	Abnormality of the middle ear	55036	CCDC40	ORPHA:244
HP:0000370	Abnormality of the middle ear	55036	CCDC40	OMIM:613808
HP:0000370	Abnormality of the middle ear	51364	ZMYND10	ORPHA:244
HP:0000370	Abnormality of the middle ear	51364	ZMYND10	OMIM:615444
HP:0000370	Abnormality of the middle ear	6674	SPAG1	ORPHA:244
HP:0000370	Abnormality of the middle ear	6674	SPAG1	OMIM:615505
HP:0000370	Abnormality of the middle ear	83544	DNAL1	ORPHA:244
HP:0000370	Abnormality of the middle ear	83538	ODAD4	ORPHA:244
HP:0000370	Abnormality of the middle ear	200373	CFAP221	ORPHA:244
HP:0000370	Abnormality of the middle ear	374407	DNAJB13	ORPHA:244
HP:0000370	Abnormality of the middle ear	55172	DNAAF2	ORPHA:244
HP:0000370	Abnormality of the middle ear	2622	GAS8	ORPHA:244
HP:0000370	Abnormality of the middle ear	2622	GAS8	OMIM:616726
HP:0000370	Abnormality of the middle ear	23639	DNAAF11	ORPHA:244
HP:0000370	Abnormality of the middle ear	23639	DNAAF11	OMIM:614935
HP:0000370	Abnormality of the middle ear	27019	DNAI1	ORPHA:244
HP:0000370	Abnormality of the middle ear	345895	RSPH4A	ORPHA:244
HP:0000370	Abnormality of the middle ear	6103	RPGR	ORPHA:244
HP:0000370	Abnormality of the middle ear	388389	CCDC103	ORPHA:244
HP:0000370	Abnormality of the middle ear	388389	CCDC103	OMIM:614679
HP:0000370	Abnormality of the middle ear	93233	ODAD1	ORPHA:244
HP:0000370	Abnormality of the middle ear	93233	ODAD1	OMIM:615067
HP:0000370	Abnormality of the middle ear	55130	ODAD2	ORPHA:244
HP:0000370	Abnormality of the middle ear	55130	ODAD2	OMIM:615451
HP:0000370	Abnormality of the middle ear	1767	DNAH5	ORPHA:244
HP:0000370	Abnormality of the middle ear	1767	DNAH5	OMIM:608644
HP:0000370	Abnormality of the middle ear	345643	MCIDAS	ORPHA:244
HP:0000370	Abnormality of the middle ear	56683	CFAP298	ORPHA:244
HP:0000370	Abnormality of the middle ear	56683	CFAP298	OMIM:615500
HP:0000370	Abnormality of the middle ear	79925	SPEF2	ORPHA:244
HP:0000370	Abnormality of the middle ear	10309	CCNO	ORPHA:244
HP:0000370	Abnormality of the middle ear	115399	LRRC56	ORPHA:244
HP:0000370	Abnormality of the middle ear	115399	LRRC56	OMIM:618254
HP:0000370	Abnormality of the middle ear	139212	DNAAF6	ORPHA:244
HP:0000370	Abnormality of the middle ear	85016	CFAP300	ORPHA:244
HP:0000370	Abnormality of the middle ear	339829	CCDC39	ORPHA:244
HP:0000370	Abnormality of the middle ear	8701	DNAH11	ORPHA:244
HP:0000370	Abnormality of the middle ear	8701	DNAH11	OMIM:611884
HP:0000370	Abnormality of the middle ear	1770	DNAH9	ORPHA:244
HP:0000370	Abnormality of the middle ear	81704	DOCK8	OMIM:243700
HP:0000370	Abnormality of the middle ear	2742	GLRA2	OMIM:301076
HP:0000370	Abnormality of the middle ear	55023	PHIP	ORPHA:589905
HP:0000370	Abnormality of the middle ear	29072	SETD2	OMIM:616831
HP:0000370	Abnormality of the middle ear	2316	FLNA	OMIM:309350
HP:0000370	Abnormality of the middle ear	1642	DDB1	OMIM:619426
HP:0000370	Abnormality of the middle ear	388015	RTL1	ORPHA:254531
HP:0000370	Abnormality of the middle ear	388015	RTL1	ORPHA:96184
HP:0000370	Abnormality of the middle ear	8788	DLK1	ORPHA:254531
HP:0000370	Abnormality of the middle ear	8788	DLK1	ORPHA:96184
HP:0000370	Abnormality of the middle ear	55384	MEG3	ORPHA:254531
HP:0000370	Abnormality of the middle ear	55384	MEG3	ORPHA:96184
HP:0000370	Abnormality of the middle ear	695	BTK	OMIM:300755
HP:0000370	Abnormality of the middle ear	695	BTK	OMIM:307200
HP:0000370	Abnormality of the middle ear	4683	NBN	OMIM:251260
HP:0000370	Abnormality of the middle ear	10806	SDCCAG8	OMIM:615993
HP:0000370	Abnormality of the middle ear	100151683	RNU4ATAC	ORPHA:353298
HP:0000370	Abnormality of the middle ear	100151683	RNU4ATAC	OMIM:616651
HP:0000370	Abnormality of the middle ear	3426	CFI	OMIM:610984
HP:0000370	Abnormality of the middle ear	9094	UNC119	OMIM:615518
HP:0000370	Abnormality of the middle ear	79650	USB1	OMIM:604173
HP:0000370	Abnormality of the middle ear	7314	UBB	ORPHA:99772
HP:0000370	Abnormality of the middle ear	57822	GRHL3	ORPHA:99772
HP:0000370	Abnormality of the middle ear	5575	PRKAR1B	OMIM:619680
HP:0000370	Abnormality of the middle ear	10847	SRCAP	OMIM:136140
HP:0000370	Abnormality of the middle ear	11151	CORO1A	OMIM:615401
HP:0000370	Abnormality of the middle ear	4297	KMT2A	OMIM:605130
HP:0000370	Abnormality of the middle ear	57551	TAOK1	OMIM:619575
HP:0000370	Abnormality of the middle ear	84061	MAGT1	OMIM:300853
HP:0000370	Abnormality of the middle ear	2332	FMR1	ORPHA:449291
HP:0000370	Abnormality of the middle ear	6045	RNF2	OMIM:619460
HP:0000370	Abnormality of the middle ear	1280	COL2A1	OMIM:156550
HP:0000370	Abnormality of the middle ear	1822	ATN1	OMIM:618494
HP:0000370	Abnormality of the middle ear	7403	KDM6A	OMIM:300867
HP:0000370	Abnormality of the middle ear	7403	KDM6A	OMIM:147920
HP:0000370	Abnormality of the middle ear	3560	IL2RB	OMIM:618495
HP:0000370	Abnormality of the middle ear	7454	WAS	OMIM:301000
HP:0000370	Abnormality of the middle ear	57003	CCDC47	OMIM:618268
HP:0000370	Abnormality of the middle ear	5977	DPF2	OMIM:618027
HP:0000370	Abnormality of the middle ear	55329	MNS1	OMIM:618948
HP:0000370	Abnormality of the middle ear	5580	PRKCD	OMIM:615559
HP:0000370	Abnormality of the middle ear	920	CD4	OMIM:619238
HP:0000370	Abnormality of the middle ear	5336	PLCG2	OMIM:614468
HP:0000370	Abnormality of the middle ear	3570	IL6R	OMIM:618944
HP:0000370	Abnormality of the middle ear	3575	IL7R	OMIM:608971
HP:0000370	Abnormality of the middle ear	23112	TNRC6B	OMIM:619243
HP:0000370	Abnormality of the middle ear	51816	ADA2	OMIM:615688
HP:0000370	Abnormality of the middle ear	50615	IL21R	OMIM:615207
HP:0000370	Abnormality of the middle ear	5294	PIK3CG	OMIM:619802
HP:0000370	Abnormality of the middle ear	2799	GNS	OMIM:252940
HP:0000370	Abnormality of the middle ear	10551	AGR2	OMIM:620233
HP:0000370	Abnormality of the middle ear	84905	ZNF341	OMIM:618282
HP:0000370	Abnormality of the middle ear	5879	RAC1	OMIM:617751
HP:0000370	Abnormality of the middle ear	5879	RAC1	ORPHA:500159
HP:0000370	Abnormality of the middle ear	2990	GUSB	OMIM:253220
HP:0000370	Abnormality of the middle ear	5236	PGM1	OMIM:614921
HP:0000370	Abnormality of the middle ear	23765	IL17RA	OMIM:613953
HP:0000370	Abnormality of the middle ear	6850	SYK	OMIM:619381
HP:0000370	Abnormality of the middle ear	341208	HEPHL1	OMIM:261990
HP:0000370	Abnormality of the middle ear	721	C4B	OMIM:614379
HP:0000370	Abnormality of the middle ear	1794	DOCK2	OMIM:616433
HP:0000370	Abnormality of the middle ear	6736	SRY	ORPHA:1772
HP:0000370	Abnormality of the middle ear	5130	PCYT1A	OMIM:608940
HP:0000370	Abnormality of the middle ear	5696	PSMB8	OMIM:256040
HP:0000370	Abnormality of the middle ear	8085	KMT2D	OMIM:147920
HP:0000370	Abnormality of the middle ear	26191	PTPN22	ORPHA:397
HP:0000370	Abnormality of the middle ear	3106	HLA-B	ORPHA:397
HP:0000370	Abnormality of the middle ear	3123	HLA-DRB1	ORPHA:397
HP:0000370	Abnormality of the middle ear	8974	P4HA2	ORPHA:397
HP:0000370	Abnormality of the middle ear	10194	TSHZ1	OMIM:607842
HP:0000370	Abnormality of the middle ear	10262	SF3B4	OMIM:154400
HP:0000370	Abnormality of the middle ear	23019	CNOT1	OMIM:618500
HP:0000370	Abnormality of the middle ear	2697	GJA1	ORPHA:1522
HP:0000370	Abnormality of the middle ear	2697	GJA1	ORPHA:2710
HP:0000370	Abnormality of the middle ear	2697	GJA1	OMIM:164200
HP:0000370	Abnormality of the middle ear	56172	ANKH	ORPHA:1522
HP:0000370	Abnormality of the middle ear	1161	ERCC8	ORPHA:90324
HP:0000370	Abnormality of the middle ear	2074	ERCC6	ORPHA:90324
HP:0000370	Abnormality of the middle ear	6228	RPS23	OMIM:617412
HP:0000370	Abnormality of the middle ear	5238	PGM3	ORPHA:443811
HP:0000370	Abnormality of the middle ear	5238	PGM3	OMIM:615816
HP:0000370	Abnormality of the middle ear	145173	B3GLCT	ORPHA:709
HP:0000370	Abnormality of the middle ear	10992	SF3B2	OMIM:164210
HP:0000370	Abnormality of the middle ear	91147	TMEM67	OMIM:602152
HP:0000370	Abnormality of the middle ear	64324	NSD1	ORPHA:821
HP:0000370	Abnormality of the middle ear	64324	NSD1	OMIM:117550
HP:0000370	Abnormality of the middle ear	10297	APC2	ORPHA:821
HP:0000370	Abnormality of the middle ear	5447	POR	ORPHA:95699
HP:0000370	Abnormality of the middle ear	5447	POR	OMIM:201750
HP:0000370	Abnormality of the middle ear	3190	HNRNPK	ORPHA:453504
HP:0000370	Abnormality of the middle ear	3190	HNRNPK	ORPHA:352665
HP:0000370	Abnormality of the middle ear	8792	TNFRSF11A	OMIM:174810
HP:0000370	Abnormality of the middle ear	1855	DVL1	OMIM:616331
HP:0000370	Abnormality of the middle ear	63916	ELMO2	ORPHA:3019
HP:0000370	Abnormality of the middle ear	2314	FLII	ORPHA:819
HP:0000370	Abnormality of the middle ear	23096	IQSEC2	ORPHA:819
HP:0000370	Abnormality of the middle ear	10522	DEAF1	ORPHA:819
HP:0000370	Abnormality of the middle ear	6662	SOX9	OMIM:114290
HP:0000370	Abnormality of the middle ear	9382	COG1	OMIM:611209
HP:0000370	Abnormality of the middle ear	50964	SOST	ORPHA:1513
HP:0000370	Abnormality of the middle ear	1500	CTNND1	ORPHA:1997
HP:0000370	Abnormality of the middle ear	2188	FANCF	OMIM:603467
HP:0000370	Abnormality of the middle ear	1146	CHRNG	OMIM:265000
HP:0000370	Abnormality of the middle ear	1146	CHRNG	ORPHA:2990
HP:0000370	Abnormality of the middle ear	90	ACVR1	OMIM:135100
HP:0000370	Abnormality of the middle ear	2263	FGFR2	ORPHA:87
HP:0000370	Abnormality of the middle ear	2263	FGFR2	ORPHA:2363
HP:0000370	Abnormality of the middle ear	2263	FGFR2	ORPHA:794
HP:0000370	Abnormality of the middle ear	2263	FGFR2	OMIM:123500
HP:0000370	Abnormality of the middle ear	2263	FGFR2	ORPHA:207
HP:0000370	Abnormality of the middle ear	2590	GALNT2	OMIM:618885
HP:0000370	Abnormality of the middle ear	4853	NOTCH2	OMIM:102500
HP:0000370	Abnormality of the middle ear	90993	CREB3L1	OMIM:616229
HP:0000370	Abnormality of the middle ear	7428	VHL	ORPHA:276621
HP:0000370	Abnormality of the middle ear	7428	VHL	ORPHA:29072
HP:0000370	Abnormality of the middle ear	5979	RET	ORPHA:276621
HP:0000370	Abnormality of the middle ear	5979	RET	ORPHA:29072
HP:0000370	Abnormality of the middle ear	1788	DNMT3A	ORPHA:276621
HP:0000370	Abnormality of the middle ear	2034	EPAS1	ORPHA:276621
HP:0000370	Abnormality of the middle ear	6392	SDHD	ORPHA:276621
HP:0000370	Abnormality of the middle ear	6392	SDHD	OMIM:168000
HP:0000370	Abnormality of the middle ear	6392	SDHD	ORPHA:29072
HP:0000370	Abnormality of the middle ear	6390	SDHB	ORPHA:276621
HP:0000370	Abnormality of the middle ear	6390	SDHB	ORPHA:29072
HP:0000370	Abnormality of the middle ear	7020	TFAP2A	OMIM:113620
HP:0000370	Abnormality of the middle ear	7020	TFAP2A	ORPHA:1297
HP:0000370	Abnormality of the middle ear	9401	RECQL4	OMIM:218600
HP:0000370	Abnormality of the middle ear	9401	RECQL4	ORPHA:1225
HP:0000370	Abnormality of the middle ear	23347	SMCHD1	OMIM:603457
HP:0000370	Abnormality of the middle ear	57167	SALL4	ORPHA:959
HP:0000370	Abnormality of the middle ear	83879	CDCA7	OMIM:616910
HP:0000370	Abnormality of the middle ear	8642	DCHS1	OMIM:601390
HP:0000370	Abnormality of the middle ear	8642	DCHS1	ORPHA:314679
HP:0000370	Abnormality of the middle ear	53834	FGFRL1	OMIM:194190
HP:0000370	Abnormality of the middle ear	1487	CTBP1	OMIM:194190
HP:0000370	Abnormality of the middle ear	3954	LETM1	OMIM:194190
HP:0000370	Abnormality of the middle ear	7468	NSD2	OMIM:194190
HP:0000370	Abnormality of the middle ear	10815	CPLX1	OMIM:194190
HP:0000370	Abnormality of the middle ear	10815	CPLX1	OMIM:617976
HP:0000370	Abnormality of the middle ear	8200	GDF5	ORPHA:3237
HP:0000370	Abnormality of the middle ear	2254	FGF9	ORPHA:3237
HP:0000370	Abnormality of the middle ear	9508	ADAMTS3	ORPHA:2136
HP:0000370	Abnormality of the middle ear	147372	CCBE1	ORPHA:2136
HP:0000370	Abnormality of the middle ear	147372	CCBE1	OMIM:235510
HP:0000370	Abnormality of the middle ear	79633	FAT4	ORPHA:2136
HP:0000370	Abnormality of the middle ear	79633	FAT4	ORPHA:314679
HP:0000370	Abnormality of the middle ear	79633	FAT4	OMIM:615546
HP:0000370	Abnormality of the middle ear	1909	EDNRA	OMIM:616367
HP:0000370	Abnormality of the middle ear	1743	DLST	ORPHA:29072
HP:0000370	Abnormality of the middle ear	4191	MDH2	ORPHA:29072
HP:0000370	Abnormality of the middle ear	6389	SDHA	ORPHA:29072
HP:0000370	Abnormality of the middle ear	23095	KIF1B	ORPHA:29072
HP:0000370	Abnormality of the middle ear	2271	FH	ORPHA:29072
HP:0000370	Abnormality of the middle ear	8402	SLC25A11	ORPHA:29072
HP:0000370	Abnormality of the middle ear	54949	SDHAF2	ORPHA:29072
HP:0000370	Abnormality of the middle ear	55654	TMEM127	ORPHA:29072
HP:0000370	Abnormality of the middle ear	4763	NF1	ORPHA:29072
HP:0000370	Abnormality of the middle ear	6391	SDHC	ORPHA:29072
HP:0000370	Abnormality of the middle ear	4149	MAX	ORPHA:29072
HP:0000370	Abnormality of the middle ear	5590	PRKCZ	ORPHA:1606
HP:0000370	Abnormality of the middle ear	2563	GABRD	ORPHA:1606
HP:0000370	Abnormality of the middle ear	23013	SPEN	ORPHA:1606
HP:0000370	Abnormality of the middle ear	23013	SPEN	OMIM:619312
HP:0000370	Abnormality of the middle ear	8510	MMP23B	ORPHA:1606
HP:0000370	Abnormality of the middle ear	7798	LUZP1	ORPHA:1606
HP:0000370	Abnormality of the middle ear	6497	SKI	ORPHA:1606
HP:0000370	Abnormality of the middle ear	6497	SKI	ORPHA:2462
HP:0000370	Abnormality of the middle ear	6497	SKI	OMIM:182212
HP:0000370	Abnormality of the middle ear	10630	PDPN	ORPHA:1606
HP:0000370	Abnormality of the middle ear	3339	HSPG2	ORPHA:1606
HP:0000370	Abnormality of the middle ear	10277	UBE4B	ORPHA:1606
HP:0000370	Abnormality of the middle ear	8514	KCNAB2	ORPHA:1606
HP:0000370	Abnormality of the middle ear	473	RERE	ORPHA:1606
HP:0000370	Abnormality of the middle ear	63976	PRDM16	ORPHA:1606
HP:0000370	Abnormality of the middle ear	54897	CASZ1	ORPHA:1606
HP:0000370	Abnormality of the middle ear	145258	GSC	OMIM:602471
HP:0000370	Abnormality of the middle ear	10907	TXNL4A	OMIM:608572
HP:0000370	Abnormality of the middle ear	6628	SNRPB	ORPHA:1393
HP:0000370	Abnormality of the middle ear	6628	SNRPB	OMIM:117650
HP:0000370	Abnormality of the middle ear	4849	CNOT3	OMIM:618672
HP:0000370	Abnormality of the middle ear	2255	FGF10	ORPHA:2363
HP:0000370	Abnormality of the middle ear	6231	RPS26	OMIM:613309
HP:0000370	Abnormality of the middle ear	11107	PRDM5	ORPHA:90354
HP:0000370	Abnormality of the middle ear	84627	ZNF469	ORPHA:90354
HP:0000370	Abnormality of the middle ear	25836	NIPBL	OMIM:122470
HP:0000370	Abnormality of the middle ear	25836	NIPBL	ORPHA:199
HP:0000370	Abnormality of the middle ear	50945	TBX22	ORPHA:921
HP:0000370	Abnormality of the middle ear	257	ALX3	OMIM:136760
HP:0000370	Abnormality of the middle ear	25970	SH2B1	ORPHA:261197
HP:0000370	Abnormality of the middle ear	2317	FLNB	OMIM:150250
HP:0000370	Abnormality of the middle ear	2317	FLNB	ORPHA:503
HP:0000370	Abnormality of the middle ear	51053	GMNN	OMIM:616835
HP:0000370	Abnormality of the middle ear	2200	FBN1	ORPHA:2462
HP:0000370	Abnormality of the middle ear	196528	ARID2	OMIM:617808
HP:0000370	Abnormality of the middle ear	10456	HAX1	OMIM:610738
HP:0000370	Abnormality of the middle ear	6309	SC5D	OMIM:607330
HP:0000370	Abnormality of the middle ear	7291	TWIST1	ORPHA:794
HP:0000370	Abnormality of the middle ear	9949	AMMECR1	OMIM:300990
HP:0000370	Abnormality of the middle ear	9361	LONP1	OMIM:600373
HP:0000370	Abnormality of the middle ear	92840	REEP6	ORPHA:791
HP:0000370	Abnormality of the middle ear	6094	ROM1	ORPHA:791
HP:0000370	Abnormality of the middle ear	6017	RLBP1	ORPHA:791
HP:0000370	Abnormality of the middle ear	7401	CLRN1	ORPHA:791
HP:0000370	Abnormality of the middle ear	24	ABCA4	ORPHA:791
HP:0000370	Abnormality of the middle ear	130557	ZNF513	ORPHA:791
HP:0000370	Abnormality of the middle ear	582	BBS1	ORPHA:791
HP:0000370	Abnormality of the middle ear	92211	CDHR1	ORPHA:791
HP:0000370	Abnormality of the middle ear	23568	ARL2BP	ORPHA:791
HP:0000370	Abnormality of the middle ear	6121	RPE65	ORPHA:791
HP:0000370	Abnormality of the middle ear	54806	AHI1	ORPHA:791
HP:0000370	Abnormality of the middle ear	6101	RP1	ORPHA:791
HP:0000370	Abnormality of the middle ear	3419	IDH3A	ORPHA:791
HP:0000370	Abnormality of the middle ear	4751	NEK2	ORPHA:791
HP:0000370	Abnormality of the middle ear	346007	EYS	ORPHA:791
HP:0000370	Abnormality of the middle ear	8100	IFT88	ORPHA:791
HP:0000370	Abnormality of the middle ear	23020	SNRNP200	ORPHA:791
HP:0000370	Abnormality of the middle ear	762	CA4	ORPHA:791
HP:0000370	Abnormality of the middle ear	138050	HGSNAT	ORPHA:791
HP:0000370	Abnormality of the middle ear	196	AHR	ORPHA:791
HP:0000370	Abnormality of the middle ear	3614	IMPDH1	ORPHA:791
HP:0000370	Abnormality of the middle ear	123016	TTC8	ORPHA:791
HP:0000370	Abnormality of the middle ear	1406	CRX	ORPHA:791
HP:0000370	Abnormality of the middle ear	5148	PDE6G	ORPHA:791
HP:0000370	Abnormality of the middle ear	26160	IFT172	ORPHA:791
HP:0000370	Abnormality of the middle ear	26121	PRPF31	ORPHA:791
HP:0000370	Abnormality of the middle ear	583	BBS2	ORPHA:791
HP:0000370	Abnormality of the middle ear	4117	MAK	ORPHA:791
HP:0000370	Abnormality of the middle ear	25794	FSCN2	ORPHA:791
HP:0000370	Abnormality of the middle ear	375298	CERKL	ORPHA:791
HP:0000370	Abnormality of the middle ear	3420	IDH3B	ORPHA:791
HP:0000370	Abnormality of the middle ear	57670	KIAA1549	ORPHA:791
HP:0000370	Abnormality of the middle ear	7275	TUB	ORPHA:791
HP:0000370	Abnormality of the middle ear	24148	PRPF6	ORPHA:791
HP:0000370	Abnormality of the middle ear	23418	CRB1	ORPHA:791
HP:0000370	Abnormality of the middle ear	10461	MERTK	ORPHA:791
HP:0000370	Abnormality of the middle ear	57709	SLC7A14	ORPHA:791
HP:0000370	Abnormality of the middle ear	768206	PRCD	ORPHA:791
HP:0000370	Abnormality of the middle ear	7399	USH2A	ORPHA:791
HP:0000370	Abnormality of the middle ear	23370	ARHGEF18	ORPHA:791
HP:0000370	Abnormality of the middle ear	5949	RBP3	ORPHA:791
HP:0000370	Abnormality of the middle ear	6010	RHO	ORPHA:791
HP:0000370	Abnormality of the middle ear	6100	RP9	ORPHA:791
HP:0000370	Abnormality of the middle ear	10002	NR2E3	ORPHA:791
HP:0000370	Abnormality of the middle ear	9227	LRAT	ORPHA:791
HP:0000370	Abnormality of the middle ear	84140	FAM161A	ORPHA:791
HP:0000370	Abnormality of the middle ear	55812	SPATA7	ORPHA:791
HP:0000370	Abnormality of the middle ear	55624	POMGNT1	ORPHA:791
HP:0000370	Abnormality of the middle ear	79797	ZNF408	ORPHA:791
HP:0000370	Abnormality of the middle ear	403	ARL3	ORPHA:791
HP:0000370	Abnormality of the middle ear	5145	PDE6A	ORPHA:791
HP:0000370	Abnormality of the middle ear	10210	TOPORS	ORPHA:791
HP:0000370	Abnormality of the middle ear	10210	TOPORS	ORPHA:2754
HP:0000370	Abnormality of the middle ear	8842	PROM1	ORPHA:791
HP:0000370	Abnormality of the middle ear	9128	PRPF4	ORPHA:791
HP:0000370	Abnormality of the middle ear	145226	RDH12	ORPHA:791
HP:0000370	Abnormality of the middle ear	50939	IMPG2	ORPHA:791
HP:0000370	Abnormality of the middle ear	49855	SCAPER	ORPHA:791
HP:0000370	Abnormality of the middle ear	9742	IFT140	ORPHA:791
HP:0000370	Abnormality of the middle ear	2979	GUCA1B	ORPHA:791
HP:0000370	Abnormality of the middle ear	1259	CNGA1	ORPHA:791
HP:0000370	Abnormality of the middle ear	1258	CNGB1	ORPHA:791
HP:0000370	Abnormality of the middle ear	60509	AGBL5	ORPHA:791
HP:0000370	Abnormality of the middle ear	5961	PRPH2	ORPHA:791
HP:0000370	Abnormality of the middle ear	388939	PCARE	ORPHA:791
HP:0000370	Abnormality of the middle ear	7439	BEST1	ORPHA:791
HP:0000370	Abnormality of the middle ear	9785	DHX38	ORPHA:791
HP:0000370	Abnormality of the middle ear	7287	TULP1	ORPHA:791
HP:0000370	Abnormality of the middle ear	5995	RGR	ORPHA:791
HP:0000370	Abnormality of the middle ear	9129	PRPF3	ORPHA:791
HP:0000370	Abnormality of the middle ear	55975	KLHL7	ORPHA:791
HP:0000370	Abnormality of the middle ear	3617	IMPG1	ORPHA:791
HP:0000370	Abnormality of the middle ear	94137	RP1L1	ORPHA:791
HP:0000370	Abnormality of the middle ear	5158	PDE6B	ORPHA:791
HP:0000370	Abnormality of the middle ear	6102	RP2	ORPHA:791
HP:0000370	Abnormality of the middle ear	55857	KIZ	ORPHA:791
HP:0000370	Abnormality of the middle ear	64218	SEMA4A	ORPHA:791
HP:0000370	Abnormality of the middle ear	4901	NRL	ORPHA:791
HP:0000370	Abnormality of the middle ear	157657	CFAP418	ORPHA:791
HP:0000370	Abnormality of the middle ear	10594	PRPF8	ORPHA:791
HP:0000370	Abnormality of the middle ear	84100	ARL6	ORPHA:791
HP:0000370	Abnormality of the middle ear	6295	SAG	ORPHA:791
HP:0000370	Abnormality of the middle ear	79947	DHDDS	ORPHA:791
HP:0000370	Abnormality of the middle ear	5648	MASP1	OMIM:257920
HP:0000370	Abnormality of the middle ear	5396	PRRX1	OMIM:202650
HP:0000370	Abnormality of the middle ear	9759	HDAC4	ORPHA:1001
HP:0000370	Abnormality of the middle ear	27125	AFF4	ORPHA:444077
HP:0000370	Abnormality of the middle ear	1387	CREBBP	ORPHA:353281
HP:0000370	Abnormality of the middle ear	1387	CREBBP	ORPHA:353277
HP:0000370	Abnormality of the middle ear	2623	GATA1	OMIM:190685
HP:0000370	Abnormality of the middle ear	55215	FANCI	OMIM:609053
HP:0000370	Abnormality of the middle ear	2033	EP300	ORPHA:353284
HP:0000370	Abnormality of the middle ear	55033	FKBP14	OMIM:614557
HP:0000370	Abnormality of the middle ear	5075	PAX1	ORPHA:2792
HP:0000370	Abnormality of the middle ear	2077	ERF	ORPHA:207
HP:0000370	Abnormality of the middle ear	1312	COMT	ORPHA:567
HP:0000370	Abnormality of the middle ear	221037	JMJD1C	ORPHA:567
HP:0000370	Abnormality of the middle ear	2812	GP1BB	ORPHA:567
HP:0000370	Abnormality of the middle ear	6239	RREB1	ORPHA:567
HP:0000370	Abnormality of the middle ear	7290	HIRA	ORPHA:567
HP:0000370	Abnormality of the middle ear	9632	SEC24C	ORPHA:567
HP:0000370	Abnormality of the middle ear	7353	UFD1	ORPHA:567
HP:0000370	Abnormality of the middle ear	421	ARVCF	ORPHA:567
HP:0000370	Abnormality of the middle ear	7703	PCGF2	OMIM:618371
HP:0000370	Abnormality of the middle ear	4784	NFIX	ORPHA:561
HP:0000370	Abnormality of the middle ear	774	CACNA1B	OMIM:618497
HP:0000370	Abnormality of the middle ear	139285	AMER1	ORPHA:2780
HP:0000370	Abnormality of the middle ear	139285	AMER1	OMIM:300373
HP:0000370	Abnormality of the middle ear	760	CA2	ORPHA:2785
HP:0000370	Abnormality of the middle ear	23476	BRD4	ORPHA:199
HP:0000370	Abnormality of the middle ear	9126	SMC3	ORPHA:199
HP:0000370	Abnormality of the middle ear	8243	SMC1A	ORPHA:199
HP:0000370	Abnormality of the middle ear	55869	HDAC8	ORPHA:199
HP:0000370	Abnormality of the middle ear	5885	RAD21	ORPHA:199
HP:0000370	Abnormality of the middle ear	4613	MYCN	ORPHA:391641
HP:0000370	Abnormality of the middle ear	29957	SLC25A24	ORPHA:2095
HP:0000370	Abnormality of the middle ear	29957	SLC25A24	OMIM:612289
HP:0000370	Abnormality of the middle ear	65250	CPLANE1	OMIM:277170
HP:0000370	Abnormality of the middle ear	65250	CPLANE1	ORPHA:2754
HP:0000370	Abnormality of the middle ear	8092	ALX1	ORPHA:306542
HP:0000370	Abnormality of the middle ear	5167	ENPP1	ORPHA:51608
HP:0000370	Abnormality of the middle ear	368	ABCC6	ORPHA:51608
HP:0000370	Abnormality of the middle ear	28962	OSTM1	ORPHA:85179
HP:0000370	Abnormality of the middle ear	100996717	NOTCH2NLC	OMIM:619473
HP:0000370	Abnormality of the middle ear	246329	STAC3	ORPHA:168572
HP:0000370	Abnormality of the middle ear	246329	STAC3	OMIM:255995
HP:0000370	Abnormality of the middle ear	2131	EXT1	ORPHA:502
HP:0000370	Abnormality of the middle ear	7227	TRPS1	ORPHA:502
HP:0000370	Abnormality of the middle ear	5456	POU3F4	OMIM:304400
HP:0000370	Abnormality of the middle ear	5456	POU3F4	ORPHA:1435
HP:0000370	Abnormality of the middle ear	10804	GJB6	OMIM:304400
HP:0000370	Abnormality of the middle ear	2706	GJB2	OMIM:304400
HP:0000370	Abnormality of the middle ear	4000	LMNA	ORPHA:740
HP:0000370	Abnormality of the middle ear	10269	ZMPSTE24	ORPHA:740
HP:0000370	Abnormality of the middle ear	4041	LRP5	OMIM:607634
HP:0000370	Abnormality of the middle ear	51715	RAB23	OMIM:201000
HP:0000370	Abnormality of the middle ear	4222	MEOX1	OMIM:214300
HP:0000370	Abnormality of the middle ear	26137	ZBTB20	ORPHA:3042
HP:0000370	Abnormality of the middle ear	1984	EIF5A	OMIM:619376
HP:0000370	Abnormality of the middle ear	650	BMP2	OMIM:617877
HP:0000370	Abnormality of the middle ear	9487	PIGL	OMIM:280000
HP:0000370	Abnormality of the middle ear	4621	MYH3	ORPHA:2990
HP:0000370	Abnormality of the middle ear	4750	NEK1	ORPHA:2751
HP:0000370	Abnormality of the middle ear	26123	TCTN3	ORPHA:2753
HP:0000370	Abnormality of the middle ear	26123	TCTN3	ORPHA:2754
HP:0000370	Abnormality of the middle ear	5286	PIK3C2A	ORPHA:557003
HP:0000370	Abnormality of the middle ear	9851	KIAA0753	ORPHA:2754
HP:0000370	Abnormality of the middle ear	5147	PDE6D	ORPHA:2754
HP:0000370	Abnormality of the middle ear	51259	TMEM216	ORPHA:2754
HP:0000370	Abnormality of the middle ear	317662	FAM149B1	ORPHA:2754
HP:0000370	Abnormality of the middle ear	374654	KIF7	ORPHA:2754
HP:0000370	Abnormality of the middle ear	90121	TSR2	OMIM:300946
HP:0000370	Abnormality of the middle ear	4921	DDR2	OMIM:618175
HP:0000370	Abnormality of the middle ear	3476	IGBP1	OMIM:300472
HP:0000370	Abnormality of the middle ear	126792	B3GALT6	ORPHA:536467
HP:0000370	Abnormality of the middle ear	166929	SGMS2	OMIM:126550
HP:0000370	Abnormality of the middle ear	415	ARSL	ORPHA:79345
HP:0000370	Abnormality of the middle ear	1302	COL11A2	OMIM:215150
HP:0000370	Abnormality of the middle ear	4125	MAN2B1	ORPHA:309282
HP:0000370	Abnormality of the middle ear	4125	MAN2B1	ORPHA:309288
HP:0000370	Abnormality of the middle ear	3199	HOXA2	OMIM:612290
HP:0000370	Abnormality of the middle ear	55755	CDK5RAP2	OMIM:604804
HP:0000370	Abnormality of the middle ear	1009	CDH11	ORPHA:1299
HP:0000370	Abnormality of the middle ear	55636	CHD7	OMIM:214800
HP:0000370	Abnormality of the middle ear	84173	ELMOD3	OMIM:615429
HP:0000370	Abnormality of the middle ear	55294	FBXW7	OMIM:620012
HP:0000370	Abnormality of the middle ear	56975	FAM20C	OMIM:259775
HP:0000370	Abnormality of the middle ear	6234	RPS28	OMIM:606164
HP:0000370	Abnormality of the middle ear	4854	NOTCH3	OMIM:130720
HP:0000370	Abnormality of the middle ear	4854	NOTCH3	ORPHA:2789
HP:0000370	Abnormality of the middle ear	147912	SIX5	ORPHA:107
HP:0000370	Abnormality of the middle ear	9131	AIFM1	OMIM:300614
HP:0000370	Abnormality of the middle ear	9894	TELO2	ORPHA:488642
HP:0000370	Abnormality of the middle ear	29123	ANKRD11	ORPHA:2332
HP:0000370	Abnormality of the middle ear	7407	VARS1	OMIM:617802
HP:0000370	Abnormality of the middle ear	1906	EDN1	OMIM:615706
HP:0000370	Abnormality of the middle ear	9692	PRORP	OMIM:619737
HP:0000370	Abnormality of the middle ear	81624	DIAPH3	OMIM:609129
HP:0000370	Abnormality of the middle ear	9381	OTOF	OMIM:601071
HP:0000370	Abnormality of the middle ear	9526	MPDU1	ORPHA:79323
HP:0000370	Abnormality of the middle ear	1513	CTSK	ORPHA:763
HP:0000370	Abnormality of the middle ear	9241	NOG	OMIM:186500
HP:0000370	Abnormality of the middle ear	2138	EYA1	ORPHA:52429
HP:0000370	Abnormality of the middle ear	6495	SIX1	ORPHA:52429
HP:0000370	Abnormality of the middle ear	9343	EFTUD2	ORPHA:79113
HP:0000370	Abnormality of the middle ear	80144	FRAS1	OMIM:219000
HP:0000370	Abnormality of the middle ear	10743	RAI1	OMIM:182290
HP:0000370	Abnormality of the middle ear	26040	SETBP1	ORPHA:798
HP:0000370	Abnormality of the middle ear	7080	NKX2-1	OMIM:610978
HP:0000370	Abnormality of the middle ear	2261	FGFR3	ORPHA:15
HP:0000370	Abnormality of the middle ear	3590	IL11RA	OMIM:614188
HP:0000370	Abnormality of the middle ear	10735	STAG2	OMIM:301022
HP:0000370	Abnormality of the middle ear	326	AIRE	OMIM:240300
HP:0000370	Abnormality of the middle ear	2248	FGF3	ORPHA:2791
HP:0000370	Abnormality of the middle ear	374879	ZNF699	OMIM:619488
HP:0000370	Abnormality of the middle ear	8364	H4C3	OMIM:619758
HP:0000370	Abnormality of the middle ear	25942	SIN3A	OMIM:613406
HP:0000370	Abnormality of the middle ear	55719	SLF2	OMIM:620184
HP:0000370	Abnormality of the middle ear	2070	EYA4	ORPHA:217622
HP:0000371	Acute otitis media	5994	RFXAP	ORPHA:572
HP:0000371	Acute otitis media	4261	CIITA	ORPHA:572
HP:0000371	Acute otitis media	5993	RFX5	ORPHA:572
HP:0000371	Acute otitis media	8625	RFXANK	ORPHA:572
HP:0000371	Acute otitis media	3718	JAK3	ORPHA:35078
HP:0000372	Abnormality of the auditory canal	137492	VPS37A	ORPHA:319199
HP:0000372	Abnormality of the auditory canal	9935	MAFB	ORPHA:233
HP:0000372	Abnormality of the auditory canal	1123	CHN1	ORPHA:233
HP:0000372	Abnormality of the auditory canal	64840	PORCN	OMIM:305600
HP:0000372	Abnormality of the auditory canal	2263	FGFR2	ORPHA:93260
HP:0000372	Abnormality of the auditory canal	2263	FGFR2	OMIM:207410
HP:0000372	Abnormality of the auditory canal	9968	MED12	OMIM:300895
HP:0000372	Abnormality of the auditory canal	9968	MED12	ORPHA:93932
HP:0000372	Abnormality of the auditory canal	51434	ANAPC7	OMIM:619699
HP:0000372	Abnormality of the auditory canal	2138	EYA1	OMIM:113650
HP:0000372	Abnormality of the auditory canal	2138	EYA1	ORPHA:107
HP:0000372	Abnormality of the auditory canal	6495	SIX1	OMIM:113650
HP:0000372	Abnormality of the auditory canal	6495	SIX1	ORPHA:107
HP:0000372	Abnormality of the auditory canal	145173	B3GLCT	OMIM:261540
HP:0000372	Abnormality of the auditory canal	117581	TWIST2	OMIM:209885
HP:0000372	Abnormality of the auditory canal	1909	EDNRA	OMIM:616367
HP:0000372	Abnormality of the auditory canal	1280	COL2A1	ORPHA:93316
HP:0000372	Abnormality of the auditory canal	5332	PLCB4	OMIM:614669
HP:0000372	Abnormality of the auditory canal	6154	RPL26	OMIM:614900
HP:0000372	Abnormality of the auditory canal	8626	TP63	OMIM:129400
HP:0000372	Abnormality of the auditory canal	3166	HMX1	OMIM:612109
HP:0000372	Abnormality of the auditory canal	6913	TBX15	ORPHA:93333
HP:0000372	Abnormality of the auditory canal	6913	TBX15	OMIM:260660
HP:0000372	Abnormality of the auditory canal	147912	SIX5	ORPHA:107
HP:0000372	Abnormality of the auditory canal	5447	POR	ORPHA:95699
HP:0000372	Abnormality of the auditory canal	5447	POR	OMIM:207410
HP:0000372	Abnormality of the auditory canal	6558	SLC12A2	OMIM:619080
HP:0000372	Abnormality of the auditory canal	1294	COL7A1	ORPHA:79409
HP:0000372	Abnormality of the auditory canal	4094	MAF	ORPHA:1272
HP:0000372	Abnormality of the auditory canal	3199	HOXA2	OMIM:612290
HP:0000372	Abnormality of the auditory canal	114928	GPRASP2	OMIM:301018
HP:0000372	Abnormality of the auditory canal	51053	GMNN	OMIM:616835
HP:0000372	Abnormality of the auditory canal	79633	FAT4	OMIM:615546
HP:0000372	Abnormality of the auditory canal	1906	EDN1	OMIM:615706
HP:0000372	Abnormality of the auditory canal	53834	FGFRL1	OMIM:194190
HP:0000372	Abnormality of the auditory canal	1487	CTBP1	OMIM:194190
HP:0000372	Abnormality of the auditory canal	3954	LETM1	OMIM:194190
HP:0000372	Abnormality of the auditory canal	7468	NSD2	OMIM:194190
HP:0000372	Abnormality of the auditory canal	10815	CPLX1	OMIM:194190
HP:0000372	Abnormality of the auditory canal	9382	COG1	OMIM:611209
HP:0000372	Abnormality of the auditory canal	2773	GNAI3	OMIM:602483
HP:0000372	Abnormality of the auditory canal	50964	SOST	ORPHA:1513
HP:0000372	Abnormality of the auditory canal	6234	RPS28	OMIM:606164
HP:0000372	Abnormality of the auditory canal	23476	BRD4	ORPHA:199
HP:0000372	Abnormality of the auditory canal	9126	SMC3	ORPHA:199
HP:0000372	Abnormality of the auditory canal	8243	SMC1A	ORPHA:199
HP:0000372	Abnormality of the auditory canal	25836	NIPBL	ORPHA:199
HP:0000372	Abnormality of the auditory canal	55869	HDAC8	ORPHA:199
HP:0000372	Abnormality of the auditory canal	5885	RAD21	ORPHA:199
HP:0000372	Abnormality of the auditory canal	2737	GLI3	ORPHA:672
HP:0000372	Abnormality of the auditory canal	2737	GLI3	OMIM:146510
HP:0000372	Abnormality of the auditory canal	10194	TSHZ1	OMIM:607842
HP:0000372	Abnormality of the auditory canal	341640	FREM2	ORPHA:2052
HP:0000372	Abnormality of the auditory canal	341640	FREM2	OMIM:617666
HP:0000372	Abnormality of the auditory canal	80144	FRAS1	ORPHA:2052
HP:0000372	Abnormality of the auditory canal	80144	FRAS1	OMIM:219000
HP:0000372	Abnormality of the auditory canal	23426	GRIP1	ORPHA:2052
HP:0000372	Abnormality of the auditory canal	10262	SF3B4	OMIM:154400
HP:0000372	Abnormality of the auditory canal	10262	SF3B4	ORPHA:245
HP:0000372	Abnormality of the auditory canal	6135	RPL11	OMIM:612562
HP:0000372	Abnormality of the auditory canal	10992	SF3B2	OMIM:164210
HP:0000372	Abnormality of the auditory canal	8085	KMT2D	OMIM:620186
HP:0000372	Abnormality of the auditory canal	526	ATP6V1B2	ORPHA:79500
HP:0000372	Abnormality of the auditory canal	57465	TBC1D24	ORPHA:79500
HP:0000372	Abnormality of the auditory canal	145258	GSC	OMIM:602471
HP:0000372	Abnormality of the auditory canal	6628	SNRPB	ORPHA:1393
HP:0000372	Abnormality of the auditory canal	6231	RPS26	OMIM:613309
HP:0000372	Abnormality of the auditory canal	29954	POMT2	OMIM:236670
HP:0000372	Abnormality of the auditory canal	9215	LARGE1	OMIM:236670
HP:0000372	Abnormality of the auditory canal	79147	FKRP	OMIM:236670
HP:0000372	Abnormality of the auditory canal	10585	POMT1	OMIM:236670
HP:0000372	Abnormality of the auditory canal	2218	FKTN	OMIM:236670
HP:0000372	Abnormality of the auditory canal	10735	STAG2	OMIM:301022
HP:0000372	Abnormality of the auditory canal	4998	ORC1	OMIM:224690
HP:0000372	Abnormality of the auditory canal	4998	ORC1	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	6949	TCOF1	OMIM:154500
HP:0000372	Abnormality of the auditory canal	5075	PAX1	ORPHA:2792
HP:0000372	Abnormality of the auditory canal	81620	CDT1	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	5000	ORC4	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	23594	ORC6	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	8318	CDC45	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	990	CDC6	ORPHA:2554
HP:0000372	Abnormality of the auditory canal	23347	SMCHD1	OMIM:603457
HP:0000372	Abnormality of the auditory canal	90121	TSR2	OMIM:300946
HP:0000372	Abnormality of the auditory canal	4921	DDR2	OMIM:618175
HP:0000372	Abnormality of the auditory canal	56992	KIF15	OMIM:619981
HP:0000372	Abnormality of the auditory canal	4854	NOTCH3	ORPHA:2789
HP:0000372	Abnormality of the auditory canal	2065	ERBB3	OMIM:243180
HP:0000372	Abnormality of the auditory canal	8642	DCHS1	OMIM:601390
HP:0000372	Abnormality of the auditory canal	9343	EFTUD2	OMIM:610536
HP:0000372	Abnormality of the auditory canal	9343	EFTUD2	ORPHA:79113
HP:0000372	Abnormality of the auditory canal	1146	CHRNG	OMIM:265000
HP:0000372	Abnormality of the auditory canal	10526	IPO8	OMIM:619472
HP:0000372	Abnormality of the auditory canal	57167	SALL4	OMIM:607323
HP:0000372	Abnormality of the auditory canal	57591	MRTFA	OMIM:618847
HP:0000372	Abnormality of the auditory canal	6868	ADAM17	OMIM:614328
HP:0000372	Abnormality of the auditory canal	6868	ADAM17	ORPHA:294023
HP:0000372	Abnormality of the auditory canal	1956	EGFR	ORPHA:294023
HP:0000402	Stenosis of the external auditory canal	9935	MAFB	ORPHA:233
HP:0000402	Stenosis of the external auditory canal	1123	CHN1	ORPHA:233
HP:0000402	Stenosis of the external auditory canal	64840	PORCN	OMIM:305600
HP:0000402	Stenosis of the external auditory canal	2263	FGFR2	ORPHA:93260
HP:0000402	Stenosis of the external auditory canal	2263	FGFR2	OMIM:207410
HP:0000402	Stenosis of the external auditory canal	9968	MED12	OMIM:300895
HP:0000402	Stenosis of the external auditory canal	9968	MED12	ORPHA:93932
HP:0000402	Stenosis of the external auditory canal	51434	ANAPC7	OMIM:619699
HP:0000402	Stenosis of the external auditory canal	2138	EYA1	OMIM:113650
HP:0000402	Stenosis of the external auditory canal	2138	EYA1	ORPHA:107
HP:0000402	Stenosis of the external auditory canal	6495	SIX1	OMIM:113650
HP:0000402	Stenosis of the external auditory canal	6495	SIX1	ORPHA:107
HP:0000402	Stenosis of the external auditory canal	145173	B3GLCT	OMIM:261540
HP:0000402	Stenosis of the external auditory canal	117581	TWIST2	OMIM:209885
HP:0000402	Stenosis of the external auditory canal	1909	EDNRA	OMIM:616367
HP:0000402	Stenosis of the external auditory canal	1280	COL2A1	ORPHA:93316
HP:0000402	Stenosis of the external auditory canal	5332	PLCB4	OMIM:614669
HP:0000402	Stenosis of the external auditory canal	6154	RPL26	OMIM:614900
HP:0000402	Stenosis of the external auditory canal	8626	TP63	OMIM:129400
HP:0000402	Stenosis of the external auditory canal	3166	HMX1	OMIM:612109
HP:0000402	Stenosis of the external auditory canal	6913	TBX15	ORPHA:93333
HP:0000402	Stenosis of the external auditory canal	6913	TBX15	OMIM:260660
HP:0000402	Stenosis of the external auditory canal	147912	SIX5	ORPHA:107
HP:0000402	Stenosis of the external auditory canal	5447	POR	ORPHA:95699
HP:0000402	Stenosis of the external auditory canal	5447	POR	OMIM:207410
HP:0000402	Stenosis of the external auditory canal	6558	SLC12A2	OMIM:619080
HP:0000402	Stenosis of the external auditory canal	1294	COL7A1	ORPHA:79409
HP:0000402	Stenosis of the external auditory canal	4094	MAF	ORPHA:1272
HP:0000402	Stenosis of the external auditory canal	3199	HOXA2	OMIM:612290
HP:0000402	Stenosis of the external auditory canal	114928	GPRASP2	OMIM:301018
HP:0000402	Stenosis of the external auditory canal	51053	GMNN	OMIM:616835
HP:0000402	Stenosis of the external auditory canal	79633	FAT4	OMIM:615546
HP:0000402	Stenosis of the external auditory canal	1906	EDN1	OMIM:615706
HP:0000402	Stenosis of the external auditory canal	53834	FGFRL1	OMIM:194190
HP:0000402	Stenosis of the external auditory canal	1487	CTBP1	OMIM:194190
HP:0000402	Stenosis of the external auditory canal	3954	LETM1	OMIM:194190
HP:0000402	Stenosis of the external auditory canal	7468	NSD2	OMIM:194190
HP:0000402	Stenosis of the external auditory canal	10815	CPLX1	OMIM:194190
HP:0000402	Stenosis of the external auditory canal	9382	COG1	OMIM:611209
HP:0000402	Stenosis of the external auditory canal	2773	GNAI3	OMIM:602483
HP:0000402	Stenosis of the external auditory canal	50964	SOST	ORPHA:1513
HP:0000402	Stenosis of the external auditory canal	6234	RPS28	OMIM:606164
HP:0000402	Stenosis of the external auditory canal	57167	SALL4	OMIM:607323
HP:0000375	Abnormal cochlea morphology	1678	TIMM8A	ORPHA:52368
HP:0000375	Abnormal cochlea morphology	64072	CDH23	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	10083	USH1C	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	124590	USH1G	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	83715	ESPN	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	10518	CIB2	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	4647	MYO7A	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	65217	PCDH15	ORPHA:231169
HP:0000375	Abnormal cochlea morphology	8295	TRRAP	OMIM:618778
HP:0000375	Abnormal cochlea morphology	4693	NDP	ORPHA:649
HP:0000375	Abnormal cochlea morphology	26040	SETBP1	ORPHA:798
HP:0000375	Abnormal cochlea morphology	7401	CLRN1	ORPHA:231183
HP:0000375	Abnormal cochlea morphology	22901	ARSG	ORPHA:231183
HP:0000375	Abnormal cochlea morphology	4575	MT-TS2	ORPHA:231183
HP:0000375	Abnormal cochlea morphology	3035	HARS1	ORPHA:231183
HP:0000375	Abnormal cochlea morphology	84131	CEP78	ORPHA:231183
HP:0000375	Abnormal cochlea morphology	5456	POU3F4	ORPHA:1435
HP:0000375	Abnormal cochlea morphology	3766	KCNJ10	OMIM:600791
HP:0000375	Abnormal cochlea morphology	2299	FOXI1	OMIM:600791
HP:0000375	Abnormal cochlea morphology	5172	SLC26A4	OMIM:600791
HP:0000375	Abnormal cochlea morphology	23498	HAAO	OMIM:617660
HP:0000375	Abnormal cochlea morphology	2138	EYA1	OMIM:113650
HP:0000375	Abnormal cochlea morphology	6495	SIX1	OMIM:113650
HP:0000375	Abnormal cochlea morphology	4998	ORC1	OMIM:224690
HP:0000375	Abnormal cochlea morphology	1690	COCH	OMIM:601369
HP:0000375	Abnormal cochlea morphology	5190	PEX6	ORPHA:95433
HP:0000375	Abnormal cochlea morphology	10847	SRCAP	ORPHA:2044
HP:0000375	Abnormal cochlea morphology	1663	DDX11	OMIM:613398
HP:0000375	Abnormal cochlea morphology	147912	SIX5	ORPHA:107
HP:0000375	Abnormal cochlea morphology	1288	COL4A6	OMIM:300914
HP:0000375	Abnormal cochlea morphology	80000	GREB1L	OMIM:619274
HP:0000376	Incomplete partition of the cochlea type II	3766	KCNJ10	OMIM:600791
HP:0000376	Incomplete partition of the cochlea type II	2299	FOXI1	OMIM:600791
HP:0000376	Incomplete partition of the cochlea type II	5172	SLC26A4	OMIM:600791
HP:0000376	Incomplete partition of the cochlea type II	23498	HAAO	OMIM:617660
HP:0000376	Incomplete partition of the cochlea type II	2138	EYA1	OMIM:113650
HP:0000376	Incomplete partition of the cochlea type II	6495	SIX1	OMIM:113650
HP:0000376	Incomplete partition of the cochlea type II	4998	ORC1	OMIM:224690
HP:0007537	Severe photosensitivity	1717	DHCR7	OMIM:270400
HP:0007537	Severe photosensitivity	7390	UROS	ORPHA:79277
HP:0007537	Severe photosensitivity	2623	GATA1	ORPHA:79277
HP:0007537	Severe photosensitivity	378884	NHLRC1	ORPHA:501
HP:0007537	Severe photosensitivity	7957	EPM2A	ORPHA:501
HP:0007537	Severe photosensitivity	7389	UROD	ORPHA:95159
HP:0010597	Abnormality of the distal radial epiphysis	64135	IFIH1	OMIM:182250
HP:0010591	Abnormality of the proximal tibial epiphysis	1301	COL11A1	OMIM:154780
HP:0010591	Abnormality of the proximal tibial epiphysis	388015	RTL1	ORPHA:96334
HP:0010591	Abnormality of the proximal tibial epiphysis	8788	DLK1	ORPHA:96334
HP:0010591	Abnormality of the proximal tibial epiphysis	55384	MEG3	ORPHA:96334
HP:0010590	Abnormality of the distal femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0010590	Abnormality of the distal femoral epiphysis	1301	COL11A1	OMIM:154780
HP:0010590	Abnormality of the distal femoral epiphysis	3549	IHH	OMIM:607778
HP:0007541	Frontal cutaneous lipoma	257	ALX3	OMIM:136760
HP:0007542	Absent pigmentation of the ventral chest	3815	KIT	OMIM:172800
HP:0007543	Epidermal hyperkeratosis	54345	SOX18	OMIM:137940
HP:0007543	Epidermal hyperkeratosis	4000	LMNA	ORPHA:1662
HP:0007543	Epidermal hyperkeratosis	10269	ZMPSTE24	ORPHA:1662
HP:0007543	Epidermal hyperkeratosis	10269	ZMPSTE24	OMIM:275210
HP:0007543	Epidermal hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0007543	Epidermal hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0007543	Epidermal hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0007543	Epidermal hyperkeratosis	6785	ELOVL4	OMIM:133190
HP:0007543	Epidermal hyperkeratosis	673	BRAF	OMIM:613707
HP:0007543	Epidermal hyperkeratosis	2697	GJA1	OMIM:104100
HP:0007544	Piebaldism	6591	SNAI2	ORPHA:2884
HP:0007544	Piebaldism	3815	KIT	ORPHA:2884
HP:0007544	Piebaldism	3815	KIT	OMIM:172800
HP:0007544	Piebaldism	84570	COL25A1	ORPHA:91411
HP:0007544	Piebaldism	79776	ZFHX4	ORPHA:91411
HP:0000381	Stapes ankylosis	9241	NOG	OMIM:186500
HP:0000381	Stapes ankylosis	9241	NOG	OMIM:184460
HP:0000381	Stapes ankylosis	9241	NOG	OMIM:185800
HP:0000381	Stapes ankylosis	5456	POU3F4	OMIM:304400
HP:0000381	Stapes ankylosis	5456	POU3F4	ORPHA:1435
HP:0000381	Stapes ankylosis	10804	GJB6	OMIM:304400
HP:0000381	Stapes ankylosis	2706	GJB2	OMIM:304400
HP:0000381	Stapes ankylosis	5885	RAD21	OMIM:614701
HP:0000381	Stapes ankylosis	3590	IL11RA	OMIM:614188
HP:0000381	Stapes ankylosis	5167	ENPP1	ORPHA:51608
HP:0000381	Stapes ankylosis	368	ABCC6	ORPHA:51608
HP:0000383	Abnormal periauricular region morphology	10262	SF3B4	OMIM:154400
HP:0000383	Abnormal periauricular region morphology	8367	H4C5	OMIM:619950
HP:0000383	Abnormal periauricular region morphology	8294	H4C9	OMIM:619951
HP:0000383	Abnormal periauricular region morphology	2138	EYA1	OMIM:113650
HP:0000383	Abnormal periauricular region morphology	2138	EYA1	ORPHA:107
HP:0000383	Abnormal periauricular region morphology	2138	EYA1	ORPHA:52429
HP:0000383	Abnormal periauricular region morphology	6495	SIX1	OMIM:113650
HP:0000383	Abnormal periauricular region morphology	6495	SIX1	ORPHA:107
HP:0000383	Abnormal periauricular region morphology	6495	SIX1	ORPHA:52429
HP:0000383	Abnormal periauricular region morphology	6495	SIX1	OMIM:608389
HP:0000383	Abnormal periauricular region morphology	2132	EXT2	OMIM:616682
HP:0000383	Abnormal periauricular region morphology	2335	FN1	ORPHA:93315
HP:0000383	Abnormal periauricular region morphology	1280	COL2A1	ORPHA:93315
HP:0000383	Abnormal periauricular region morphology	2972	BRF1	OMIM:616202
HP:0000383	Abnormal periauricular region morphology	145173	B3GLCT	ORPHA:709
HP:0000383	Abnormal periauricular region morphology	10992	SF3B2	OMIM:164210
HP:0000383	Abnormal periauricular region morphology	6299	SALL1	OMIM:107480
HP:0000383	Abnormal periauricular region morphology	6299	SALL1	ORPHA:857
HP:0000383	Abnormal periauricular region morphology	374654	KIF7	OMIM:200990
HP:0000383	Abnormal periauricular region morphology	89910	UBE3B	OMIM:244450
HP:0000383	Abnormal periauricular region morphology	89910	UBE3B	ORPHA:2707
HP:0000383	Abnormal periauricular region morphology	8085	KMT2D	ORPHA:2322
HP:0000383	Abnormal periauricular region morphology	7403	KDM6A	ORPHA:2322
HP:0000383	Abnormal periauricular region morphology	4953	ODC1	ORPHA:544488
HP:0000383	Abnormal periauricular region morphology	55636	CHD7	ORPHA:138
HP:0000383	Abnormal periauricular region morphology	9723	SEMA3E	ORPHA:138
HP:0000383	Abnormal periauricular region morphology	10735	STAG2	OMIM:301022
HP:0000383	Abnormal periauricular region morphology	57492	ARID1B	OMIM:135900
HP:0000383	Abnormal periauricular region morphology	54496	PRMT7	OMIM:617157
HP:0000383	Abnormal periauricular region morphology	54496	PRMT7	ORPHA:464288
HP:0000383	Abnormal periauricular region morphology	10265	IRX5	OMIM:611174
HP:0000383	Abnormal periauricular region morphology	2260	FGFR1	OMIM:190440
HP:0000383	Abnormal periauricular region morphology	23389	MED13L	ORPHA:369891
HP:0000383	Abnormal periauricular region morphology	8260	NAA10	ORPHA:568
HP:0000383	Abnormal periauricular region morphology	54880	BCOR	ORPHA:568
HP:0000383	Abnormal periauricular region morphology	10943	MSL3	OMIM:301032
HP:0000383	Abnormal periauricular region morphology	1501	CTNND2	ORPHA:281
HP:0000383	Abnormal periauricular region morphology	9037	SEMA5A	ORPHA:281
HP:0000383	Abnormal periauricular region morphology	4041	LRP5	ORPHA:2788
HP:0000383	Abnormal periauricular region morphology	51729	WBP11	OMIM:619227
HP:0000383	Abnormal periauricular region morphology	147912	SIX5	OMIM:610896
HP:0000383	Abnormal periauricular region morphology	147912	SIX5	ORPHA:107
HP:0000383	Abnormal periauricular region morphology	1906	EDN1	ORPHA:137888
HP:0000383	Abnormal periauricular region morphology	5332	PLCB4	ORPHA:137888
HP:0000383	Abnormal periauricular region morphology	2773	GNAI3	ORPHA:137888
HP:0000383	Abnormal periauricular region morphology	2773	GNAI3	OMIM:602483
HP:0000383	Abnormal periauricular region morphology	6638	SNRPN	ORPHA:177907
HP:0000383	Abnormal periauricular region morphology	53834	FGFRL1	OMIM:194190
HP:0000383	Abnormal periauricular region morphology	1487	CTBP1	OMIM:194190
HP:0000383	Abnormal periauricular region morphology	3954	LETM1	OMIM:194190
HP:0000383	Abnormal periauricular region morphology	7468	NSD2	OMIM:194190
HP:0000383	Abnormal periauricular region morphology	10815	CPLX1	OMIM:194190
HP:0000383	Abnormal periauricular region morphology	9343	EFTUD2	OMIM:610536
HP:0000383	Abnormal periauricular region morphology	9343	EFTUD2	ORPHA:79113
HP:0000383	Abnormal periauricular region morphology	57167	SALL4	ORPHA:233
HP:0000383	Abnormal periauricular region morphology	9935	MAFB	ORPHA:233
HP:0000383	Abnormal periauricular region morphology	1123	CHN1	ORPHA:233
HP:0000383	Abnormal periauricular region morphology	3192	HNRNPU	ORPHA:238769
HP:0000383	Abnormal periauricular region morphology	157680	VPS13B	ORPHA:193
HP:0000383	Abnormal periauricular region morphology	8092	ALX1	ORPHA:306542
HP:0000383	Abnormal periauricular region morphology	94005	PIGS	OMIM:618143
HP:0000383	Abnormal periauricular region morphology	1909	EDNRA	OMIM:616367
HP:0000383	Abnormal periauricular region morphology	8364	H4C3	OMIM:619758
HP:0000383	Abnormal periauricular region morphology	10907	TXNL4A	OMIM:608572
HP:0000383	Abnormal periauricular region morphology	79759	ZNF668	OMIM:620194
HP:0000383	Abnormal periauricular region morphology	84172	POLR1B	ORPHA:861
HP:0000383	Abnormal periauricular region morphology	9533	POLR1C	ORPHA:861
HP:0000383	Abnormal periauricular region morphology	51082	POLR1D	ORPHA:861
HP:0000383	Abnormal periauricular region morphology	6949	TCOF1	ORPHA:861
HP:0000383	Abnormal periauricular region morphology	6949	TCOF1	OMIM:154500
HP:0000383	Abnormal periauricular region morphology	55617	TASP1	OMIM:618950
HP:0000383	Abnormal periauricular region morphology	29123	ANKRD11	ORPHA:261250
HP:0000383	Abnormal periauricular region morphology	79971	WLS	OMIM:619648
HP:0000383	Abnormal periauricular region morphology	51339	DACT1	ORPHA:857
HP:0000383	Abnormal periauricular region morphology	54916	TMEM260	OMIM:617478
HP:0000383	Abnormal periauricular region morphology	374969	SVBP	OMIM:618569
HP:0000383	Abnormal periauricular region morphology	2317	FLNB	OMIM:272460
HP:0000383	Abnormal periauricular region morphology	9897	WASHC5	ORPHA:7
HP:0000383	Abnormal periauricular region morphology	28952	CCDC22	ORPHA:7
HP:0000383	Abnormal periauricular region morphology	257	ALX3	OMIM:136760
HP:0000383	Abnormal periauricular region morphology	257	ALX3	ORPHA:391474
HP:0000383	Abnormal periauricular region morphology	6595	SMARCA2	OMIM:601358
HP:0000383	Abnormal periauricular region morphology	3845	KRAS	OMIM:600268
HP:0000383	Abnormal periauricular region morphology	2719	GPC3	OMIM:312870
HP:0000383	Abnormal periauricular region morphology	2239	GPC4	OMIM:312870
HP:0000383	Abnormal periauricular region morphology	6850	SYK	OMIM:619381
HP:0000383	Abnormal periauricular region morphology	3098	HK1	OMIM:618547
HP:0000383	Abnormal periauricular region morphology	80036	TRPM3	OMIM:620224
HP:0000383	Abnormal periauricular region morphology	286	ANK1	ORPHA:251066
HP:0000383	Abnormal periauricular region morphology	145258	GSC	OMIM:602471
HP:0000383	Abnormal periauricular region morphology	2702	GJA5	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	1482	NKX2-5	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	1482	NKX2-5	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	137814	NKX2-6	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	23414	ZFPM2	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	23414	ZFPM2	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	2626	GATA4	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	2626	GATA4	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	3791	KDR	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	2627	GATA6	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	2627	GATA6	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	2657	GDF1	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	182	JAG1	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	182	JAG1	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	6899	TBX1	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	6899	TBX1	OMIM:187500
HP:0000383	Abnormal periauricular region morphology	140628	GATA5	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	2324	FLT4	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	10370	CITED2	ORPHA:3303
HP:0000383	Abnormal periauricular region morphology	3190	HNRNPK	ORPHA:453504
HP:0000383	Abnormal periauricular region morphology	3190	HNRNPK	ORPHA:352665
HP:0000383	Abnormal periauricular region morphology	23405	DICER1	OMIM:618272
HP:0000383	Abnormal periauricular region morphology	51715	RAB23	OMIM:201000
HP:0000383	Abnormal periauricular region morphology	27031	NPHP3	OMIM:208540
HP:0000383	Abnormal periauricular region morphology	5075	PAX1	OMIM:615560
HP:0000383	Abnormal periauricular region morphology	5075	PAX1	ORPHA:2792
HP:0000383	Abnormal periauricular region morphology	2263	FGFR2	OMIM:123790
HP:0000383	Abnormal periauricular region morphology	5500	PPP1CB	OMIM:617506
HP:0000383	Abnormal periauricular region morphology	4286	MITF	OMIM:617306
HP:0000383	Abnormal periauricular region morphology	23384	SPECC1L	ORPHA:1519
HP:0000383	Abnormal periauricular region morphology	23384	SPECC1L	OMIM:145420
HP:0000383	Abnormal periauricular region morphology	9968	MED12	OMIM:301068
HP:0000383	Abnormal periauricular region morphology	2316	FLNA	ORPHA:88630
HP:0000383	Abnormal periauricular region morphology	7994	KAT6A	ORPHA:457193
HP:0000383	Abnormal periauricular region morphology	3759	KCNJ2	OMIM:170390
HP:0000383	Abnormal periauricular region morphology	9451	EIF2AK3	OMIM:226980
HP:0000383	Abnormal periauricular region morphology	4281	MID1	ORPHA:2745
HP:0000383	Abnormal periauricular region morphology	7319	UBE2A	ORPHA:163956
HP:0000383	Abnormal periauricular region morphology	64132	XYLT2	ORPHA:85194
HP:0000383	Abnormal periauricular region morphology	58499	ZNF462	OMIM:618619
HP:0000383	Abnormal periauricular region morphology	7020	TFAP2A	OMIM:113620
HP:0000383	Abnormal periauricular region morphology	7020	TFAP2A	ORPHA:1297
HP:0000383	Abnormal periauricular region morphology	4035	LRP1	ORPHA:79100
HP:0000383	Abnormal periauricular region morphology	26053	AUTS2	ORPHA:352490
HP:0000387	Absent earlobe	1281	COL3A1	OMIM:130050
HP:0000387	Absent earlobe	157570	ESCO2	OMIM:268300
HP:0000387	Absent earlobe	157570	ESCO2	ORPHA:3103
HP:0000387	Absent earlobe	11285	B4GALT7	OMIM:130070
HP:0000387	Absent earlobe	1387	CREBBP	OMIM:618332
HP:0000387	Absent earlobe	2033	EP300	OMIM:618333
HP:0000387	Absent earlobe	55628	ZNF407	OMIM:619557
HP:0000387	Absent earlobe	545	ATR	ORPHA:808
HP:0000387	Absent earlobe	1062	CENPE	ORPHA:808
HP:0000387	Absent earlobe	5116	PCNT	ORPHA:808
HP:0000387	Absent earlobe	5932	RBBP8	ORPHA:808
HP:0000387	Absent earlobe	79902	NUP85	ORPHA:808
HP:0000387	Absent earlobe	84126	ATRIP	ORPHA:808
HP:0000387	Absent earlobe	55835	CENPJ	ORPHA:808
HP:0000387	Absent earlobe	10293	TRAIP	ORPHA:808
HP:0000387	Absent earlobe	22995	CEP152	ORPHA:808
HP:0000387	Absent earlobe	10733	PLK4	ORPHA:808
HP:0000387	Absent earlobe	9757	KMT2B	OMIM:619934
HP:0000387	Absent earlobe	11128	POLR3A	OMIM:264090
HP:0000387	Absent earlobe	11128	POLR3A	ORPHA:3455
HP:0000387	Absent earlobe	3166	HMX1	OMIM:612109
HP:0000388	Otitis media	5994	RFXAP	ORPHA:572
HP:0000388	Otitis media	4261	CIITA	ORPHA:572
HP:0000388	Otitis media	5993	RFX5	ORPHA:572
HP:0000388	Otitis media	8625	RFXANK	ORPHA:572
HP:0000388	Otitis media	3718	JAK3	ORPHA:35078
HP:0000388	Otitis media	7840	ALMS1	ORPHA:64
HP:0000388	Otitis media	7840	ALMS1	OMIM:203800
HP:0000388	Otitis media	919	CD247	ORPHA:169160
HP:0000388	Otitis media	64421	DCLRE1C	ORPHA:275
HP:0000388	Otitis media	64421	DCLRE1C	OMIM:602450
HP:0000388	Otitis media	6711	SPTBN1	OMIM:619475
HP:0000388	Otitis media	1387	CREBBP	ORPHA:353277
HP:0000388	Otitis media	1387	CREBBP	ORPHA:353281
HP:0000388	Otitis media	4860	PNP	OMIM:613179
HP:0000388	Otitis media	92579	G6PC3	OMIM:612541
HP:0000388	Otitis media	25836	NIPBL	OMIM:122470
HP:0000388	Otitis media	3561	IL2RG	OMIM:312863
HP:0000388	Otitis media	10312	TCIRG1	ORPHA:667
HP:0000388	Otitis media	1186	CLCN7	ORPHA:667
HP:0000388	Otitis media	29887	SNX10	ORPHA:667
HP:0000388	Otitis media	8600	TNFSF11	ORPHA:667
HP:0000388	Otitis media	11011	TLK2	OMIM:618050
HP:0000388	Otitis media	641	BLM	ORPHA:125
HP:0000388	Otitis media	4125	MAN2B1	ORPHA:309282
HP:0000388	Otitis media	5896	RAG1	OMIM:601457
HP:0000388	Otitis media	5897	RAG2	OMIM:601457
HP:0000388	Otitis media	7852	CXCR4	ORPHA:51636
HP:0000388	Otitis media	2033	EP300	ORPHA:353284
HP:0000388	Otitis media	165918	RNF168	ORPHA:420741
HP:0000388	Otitis media	1536	CYBB	ORPHA:379
HP:0000388	Otitis media	4688	NCF2	ORPHA:379
HP:0000388	Otitis media	1535	CYBA	ORPHA:379
HP:0000388	Otitis media	4689	NCF4	ORPHA:379
HP:0000388	Otitis media	79415	CYBC1	ORPHA:379
HP:0000388	Otitis media	1991	ELANE	ORPHA:2686
HP:0000388	Otitis media	3590	IL11RA	OMIM:614188
HP:0000388	Otitis media	5238	PGM3	ORPHA:443811
HP:0000388	Otitis media	6804	STX1A	ORPHA:904
HP:0000388	Otitis media	7461	CLIP2	ORPHA:904
HP:0000388	Otitis media	84277	DNAJC30	ORPHA:904
HP:0000388	Otitis media	8468	FKBP6	ORPHA:904
HP:0000388	Otitis media	5982	RFC2	ORPHA:904
HP:0000388	Otitis media	2969	GTF2I	ORPHA:904
HP:0000388	Otitis media	3984	LIMK1	ORPHA:904
HP:0000388	Otitis media	9569	GTF2IRD1	ORPHA:904
HP:0000388	Otitis media	155382	VPS37D	ORPHA:904
HP:0000388	Otitis media	155368	METTL27	ORPHA:904
HP:0000388	Otitis media	114049	BUD23	ORPHA:904
HP:0000388	Otitis media	7458	EIF4H	ORPHA:904
HP:0000388	Otitis media	84163	GTF2IRD2	ORPHA:904
HP:0000388	Otitis media	9275	BCL7B	ORPHA:904
HP:0000388	Otitis media	26608	TBL2	ORPHA:904
HP:0000388	Otitis media	653361	NCF1	ORPHA:904
HP:0000388	Otitis media	135886	TMEM270	ORPHA:904
HP:0000388	Otitis media	9031	BAZ1B	ORPHA:904
HP:0000388	Otitis media	7456	WIPF1	ORPHA:906
HP:0000388	Otitis media	6890	TAP1	OMIM:604571
HP:0000388	Otitis media	6891	TAP2	OMIM:604571
HP:0000388	Otitis media	6892	TAPBP	OMIM:604571
HP:0000388	Otitis media	1493	CTLA4	ORPHA:900
HP:0000388	Otitis media	26191	PTPN22	ORPHA:900
HP:0000388	Otitis media	3115	HLA-DPB1	ORPHA:900
HP:0000388	Otitis media	5657	PRTN3	ORPHA:900
HP:0000388	Otitis media	3113	HLA-DPA1	ORPHA:900
HP:0000388	Otitis media	2624	GATA2	ORPHA:3226
HP:0000388	Otitis media	64324	NSD1	ORPHA:821
HP:0000388	Otitis media	10297	APC2	ORPHA:821
HP:0000388	Otitis media	6872	TAF1	OMIM:300966
HP:0000388	Otitis media	6872	TAF1	ORPHA:480907
HP:0000388	Otitis media	29123	ANKRD11	ORPHA:261250
HP:0000388	Otitis media	25790	CFAP45	OMIM:619608
HP:0000388	Otitis media	2314	FLII	ORPHA:819
HP:0000388	Otitis media	23096	IQSEC2	ORPHA:819
HP:0000388	Otitis media	10743	RAI1	ORPHA:819
HP:0000388	Otitis media	10522	DEAF1	ORPHA:819
HP:0000388	Otitis media	4952	OCRL	ORPHA:534
HP:0000388	Otitis media	6774	STAT3	ORPHA:2314
HP:0000388	Otitis media	23483	TGDS	ORPHA:1388
HP:0000388	Otitis media	64359	NXN	ORPHA:1507
HP:0000388	Otitis media	4920	ROR2	ORPHA:1507
HP:0000388	Otitis media	1312	COMT	ORPHA:567
HP:0000388	Otitis media	221037	JMJD1C	ORPHA:567
HP:0000388	Otitis media	2812	GP1BB	ORPHA:567
HP:0000388	Otitis media	6239	RREB1	ORPHA:567
HP:0000388	Otitis media	7290	HIRA	ORPHA:567
HP:0000388	Otitis media	9632	SEC24C	ORPHA:567
HP:0000388	Otitis media	7353	UFD1	ORPHA:567
HP:0000388	Otitis media	421	ARVCF	ORPHA:567
HP:0000388	Otitis media	8604	SLC25A12	OMIM:612949
HP:0000388	Otitis media	9496	TBX4	ORPHA:261279
HP:0000388	Otitis media	10815	CPLX1	ORPHA:280
HP:0000388	Otitis media	54872	PIGG	ORPHA:280
HP:0000388	Otitis media	7469	NELFA	ORPHA:280
HP:0000388	Otitis media	1487	CTBP1	ORPHA:280
HP:0000388	Otitis media	3954	LETM1	ORPHA:280
HP:0000388	Otitis media	7468	NSD2	ORPHA:280
HP:0000388	Otitis media	7161	TP73	OMIM:619466
HP:0000388	Otitis media	146206	CARMIL2	OMIM:618131
HP:0000388	Otitis media	860	RUNX2	ORPHA:1452
HP:0000388	Otitis media	4790	NFKB1	ORPHA:1572
HP:0000388	Otitis media	8742	TNFSF12	ORPHA:1572
HP:0000388	Otitis media	931	MS4A1	ORPHA:1572
HP:0000388	Otitis media	975	CD81	ORPHA:1572
HP:0000388	Otitis media	359948	IRF2BP2	ORPHA:1572
HP:0000388	Otitis media	175	AGA	ORPHA:93
HP:0000388	Otitis media	204	AK2	ORPHA:33355
HP:0000388	Otitis media	151516	ASPRV1	ORPHA:313
HP:0000388	Otitis media	242	ALOX12B	ORPHA:313
HP:0000388	Otitis media	126410	CYP4F22	ORPHA:313
HP:0000388	Otitis media	6820	SULT2B1	ORPHA:313
HP:0000388	Otitis media	26154	ABCA12	ORPHA:313
HP:0000388	Otitis media	643418	LIPN	ORPHA:313
HP:0000388	Otitis media	59344	ALOXE3	ORPHA:313
HP:0000388	Otitis media	348938	NIPAL4	ORPHA:313
HP:0000388	Otitis media	121214	SDR9C7	ORPHA:313
HP:0000388	Otitis media	7051	TGM1	ORPHA:313
HP:0000388	Otitis media	2263	FGFR2	OMIM:101200
HP:0000388	Otitis media	5295	PIK3R1	ORPHA:33110
HP:0000388	Otitis media	56262	LRRC8A	ORPHA:33110
HP:0000388	Otitis media	100	ADA	ORPHA:277
HP:0000388	Otitis media	4791	NFKB2	ORPHA:293978
HP:0000388	Otitis media	4791	NFKB2	OMIM:615577
HP:0000388	Otitis media	3071	NCKAP1L	OMIM:618982
HP:0000388	Otitis media	8367	H4C5	OMIM:619950
HP:0000388	Otitis media	5728	PTEN	OMIM:605309
HP:0000388	Otitis media	5880	RAC2	OMIM:618986
HP:0000388	Otitis media	987	LRBA	OMIM:614700
HP:0000388	Otitis media	64682	ANAPC1	OMIM:618625
HP:0000388	Otitis media	7174	TPP2	ORPHA:444463
HP:0000388	Otitis media	7174	TPP2	OMIM:619220
HP:0000388	Otitis media	9839	ZEB2	OMIM:235730
HP:0000388	Otitis media	9839	ZEB2	ORPHA:261552
HP:0000388	Otitis media	9839	ZEB2	ORPHA:261537
HP:0000388	Otitis media	80232	WDR26	ORPHA:513456
HP:0000388	Otitis media	80232	WDR26	OMIM:617616
HP:0000388	Otitis media	89765	RSPH1	OMIM:615481
HP:0000388	Otitis media	89765	RSPH1	ORPHA:244
HP:0000388	Otitis media	161582	DNAAF4	OMIM:615482
HP:0000388	Otitis media	161582	DNAAF4	ORPHA:244
HP:0000388	Otitis media	9578	CDC42BPB	OMIM:619841
HP:0000388	Otitis media	4487	MSX1	ORPHA:199306
HP:0000388	Otitis media	5818	NECTIN1	ORPHA:199306
HP:0000388	Otitis media	1739	DLG1	ORPHA:199306
HP:0000388	Otitis media	652	BMP4	ORPHA:199306
HP:0000388	Otitis media	8626	TP63	ORPHA:199306
HP:0000388	Otitis media	8626	TP63	OMIM:129400
HP:0000388	Otitis media	999	CDH1	ORPHA:199306
HP:0000388	Otitis media	5156	PDGFRA	ORPHA:199306
HP:0000388	Otitis media	3664	IRF6	ORPHA:199306
HP:0000388	Otitis media	9411	ARHGAP29	ORPHA:199306
HP:0000388	Otitis media	1748	DLX4	ORPHA:199306
HP:0000388	Otitis media	51111	KMT5B	OMIM:617788
HP:0000388	Otitis media	146845	CFAP52	OMIM:619607
HP:0000388	Otitis media	973	CD79A	OMIM:613501
HP:0000388	Otitis media	3543	IGLL1	OMIM:613500
HP:0000388	Otitis media	6595	SMARCA2	ORPHA:2728
HP:0000388	Otitis media	144568	A2ML1	OMIM:166760
HP:0000388	Otitis media	29760	BLNK	OMIM:613502
HP:0000388	Otitis media	79158	GNPTAB	OMIM:252500
HP:0000388	Otitis media	8382	NME5	OMIM:620032
HP:0000388	Otitis media	1301	COL11A1	OMIM:154780
HP:0000388	Otitis media	54	ACP5	OMIM:607944
HP:0000388	Otitis media	56992	KIF15	ORPHA:261323
HP:0000388	Otitis media	23495	TNFRSF13B	OMIM:240500
HP:0000388	Otitis media	115650	TNFRSF13C	OMIM:240500
HP:0000388	Otitis media	1380	CR2	OMIM:240500
HP:0000388	Otitis media	29851	ICOS	OMIM:240500
HP:0000388	Otitis media	29851	ICOS	OMIM:607594
HP:0000388	Otitis media	930	CD19	OMIM:240500
HP:0000388	Otitis media	930	CD19	OMIM:613493
HP:0000388	Otitis media	123872	DNAAF1	OMIM:613193
HP:0000388	Otitis media	123872	DNAAF1	ORPHA:244
HP:0000388	Otitis media	284058	KANSL1	ORPHA:363958
HP:0000388	Otitis media	284058	KANSL1	ORPHA:363965
HP:0000388	Otitis media	3572	IL6ST	OMIM:618523
HP:0000388	Otitis media	8546	AP3B1	OMIM:608233
HP:0000388	Otitis media	1717	DHCR7	OMIM:270400
HP:0000388	Otitis media	6899	TBX1	OMIM:188400
HP:0000388	Otitis media	28755	TRAC	OMIM:615387
HP:0000388	Otitis media	6885	MAP3K7	OMIM:157800
HP:0000388	Otitis media	2783	GNB2	OMIM:619503
HP:0000388	Otitis media	3425	IDUA	OMIM:607014
HP:0000388	Otitis media	2214	FCGR3A	OMIM:615707
HP:0000388	Otitis media	30011	SH3KBP1	OMIM:300310
HP:0000388	Otitis media	2261	FGFR3	OMIM:616482
HP:0000388	Otitis media	2261	FGFR3	OMIM:100800
HP:0000388	Otitis media	2261	FGFR3	OMIM:602849
HP:0000388	Otitis media	83861	RSPH3	OMIM:616481
HP:0000388	Otitis media	83861	RSPH3	ORPHA:244
HP:0000388	Otitis media	56006	SMG9	OMIM:619995
HP:0000388	Otitis media	8260	NAA10	OMIM:309800
HP:0000388	Otitis media	8260	NAA10	OMIM:300855
HP:0000388	Otitis media	54880	BCOR	OMIM:309800
HP:0000388	Otitis media	54914	FOCAD	OMIM:619991
HP:0000388	Otitis media	6135	RPL11	OMIM:612562
HP:0000388	Otitis media	64446	DNAI2	OMIM:612444
HP:0000388	Otitis media	64446	DNAI2	ORPHA:244
HP:0000388	Otitis media	8364	H4C3	OMIM:619758
HP:0000388	Otitis media	54499	TMCO1	OMIM:213980
HP:0000388	Otitis media	55343	SLC35C1	OMIM:266265
HP:0000388	Otitis media	55343	SLC35C1	ORPHA:99843
HP:0000388	Otitis media	3507	IGHM	OMIM:601495
HP:0000388	Otitis media	8314	BAP1	OMIM:619762
HP:0000388	Otitis media	27086	FOXP1	ORPHA:391372
HP:0000388	Otitis media	5594	MAPK1	OMIM:619087
HP:0000388	Otitis media	5971	RELB	OMIM:617585
HP:0000388	Otitis media	4256	MGP	ORPHA:85202
HP:0000388	Otitis media	4256	MGP	OMIM:245150
HP:0000388	Otitis media	974	CD79B	OMIM:612692
HP:0000388	Otitis media	113179	ADAT3	OMIM:615286
HP:0000388	Otitis media	113179	ADAT3	ORPHA:363528
HP:0000388	Otitis media	54919	DNAAF5	OMIM:614874
HP:0000388	Otitis media	54919	DNAAF5	ORPHA:244
HP:0000388	Otitis media	2542	SLC37A4	OMIM:619525
HP:0000388	Otitis media	917	CD3G	OMIM:615607
HP:0000388	Otitis media	51085	MLXIPL	OMIM:194050
HP:0000388	Otitis media	2006	ELN	OMIM:194050
HP:0000388	Otitis media	11128	POLR3A	ORPHA:3455
HP:0000388	Otitis media	3373	HYAL1	OMIM:601492
HP:0000388	Otitis media	2535	FZD2	OMIM:164745
HP:0000388	Otitis media	7030	TFE3	OMIM:301066
HP:0000388	Otitis media	92749	DRC1	OMIM:615294
HP:0000388	Otitis media	92749	DRC1	ORPHA:244
HP:0000388	Otitis media	3978	LIG1	OMIM:619774
HP:0000388	Otitis media	3423	IDS	OMIM:309900
HP:0000388	Otitis media	6603	SMARCD2	OMIM:617475
HP:0000388	Otitis media	84522	JAGN1	OMIM:616022
HP:0000388	Otitis media	6929	TCF3	OMIM:616941
HP:0000388	Otitis media	7994	KAT6A	OMIM:616268
HP:0000388	Otitis media	3551	IKBKB	OMIM:618204
HP:0000388	Otitis media	916	CD3E	OMIM:615615
HP:0000388	Otitis media	3930	LBR	OMIM:169400
HP:0000388	Otitis media	246176	GAS2L2	OMIM:618449
HP:0000388	Otitis media	246176	GAS2L2	ORPHA:244
HP:0000388	Otitis media	915	CD3D	OMIM:615617
HP:0000388	Otitis media	3514	IGKC	ORPHA:183675
HP:0000388	Otitis media	3501	IGHG2	ORPHA:183675
HP:0000388	Otitis media	51311	TLR8	OMIM:301078
HP:0000388	Otitis media	25981	DNAH1	ORPHA:244
HP:0000388	Otitis media	115948	ODAD3	ORPHA:244
HP:0000388	Otitis media	115948	ODAD3	OMIM:616037
HP:0000388	Otitis media	54768	HYDIN	ORPHA:244
HP:0000388	Otitis media	54768	HYDIN	OMIM:608647
HP:0000388	Otitis media	352909	DNAAF3	ORPHA:244
HP:0000388	Otitis media	27148	STK36	ORPHA:244
HP:0000388	Otitis media	27148	STK36	OMIM:619436
HP:0000388	Otitis media	51314	NME8	ORPHA:244
HP:0000388	Otitis media	54970	TTC12	ORPHA:244
HP:0000388	Otitis media	152110	NEK10	ORPHA:244
HP:0000388	Otitis media	8481	OFD1	ORPHA:244
HP:0000388	Otitis media	2302	FOXJ1	ORPHA:244
HP:0000388	Otitis media	221421	RSPH9	ORPHA:244
HP:0000388	Otitis media	85478	CCDC65	ORPHA:244
HP:0000388	Otitis media	85478	CCDC65	OMIM:615504
HP:0000388	Otitis media	55036	CCDC40	ORPHA:244
HP:0000388	Otitis media	55036	CCDC40	OMIM:613808
HP:0000388	Otitis media	51364	ZMYND10	ORPHA:244
HP:0000388	Otitis media	51364	ZMYND10	OMIM:615444
HP:0000388	Otitis media	6674	SPAG1	ORPHA:244
HP:0000388	Otitis media	6674	SPAG1	OMIM:615505
HP:0000388	Otitis media	83544	DNAL1	ORPHA:244
HP:0000388	Otitis media	83538	ODAD4	ORPHA:244
HP:0000388	Otitis media	200373	CFAP221	ORPHA:244
HP:0000388	Otitis media	374407	DNAJB13	ORPHA:244
HP:0000388	Otitis media	55172	DNAAF2	ORPHA:244
HP:0000388	Otitis media	2622	GAS8	ORPHA:244
HP:0000388	Otitis media	2622	GAS8	OMIM:616726
HP:0000388	Otitis media	23639	DNAAF11	ORPHA:244
HP:0000388	Otitis media	23639	DNAAF11	OMIM:614935
HP:0000388	Otitis media	27019	DNAI1	ORPHA:244
HP:0000388	Otitis media	345895	RSPH4A	ORPHA:244
HP:0000388	Otitis media	6103	RPGR	ORPHA:244
HP:0000388	Otitis media	388389	CCDC103	ORPHA:244
HP:0000388	Otitis media	388389	CCDC103	OMIM:614679
HP:0000388	Otitis media	93233	ODAD1	ORPHA:244
HP:0000388	Otitis media	93233	ODAD1	OMIM:615067
HP:0000388	Otitis media	55130	ODAD2	ORPHA:244
HP:0000388	Otitis media	55130	ODAD2	OMIM:615451
HP:0000388	Otitis media	1767	DNAH5	ORPHA:244
HP:0000388	Otitis media	1767	DNAH5	OMIM:608644
HP:0000388	Otitis media	345643	MCIDAS	ORPHA:244
HP:0000388	Otitis media	56683	CFAP298	ORPHA:244
HP:0000388	Otitis media	56683	CFAP298	OMIM:615500
HP:0000388	Otitis media	79925	SPEF2	ORPHA:244
HP:0000388	Otitis media	10309	CCNO	ORPHA:244
HP:0000388	Otitis media	115399	LRRC56	ORPHA:244
HP:0000388	Otitis media	115399	LRRC56	OMIM:618254
HP:0000388	Otitis media	139212	DNAAF6	ORPHA:244
HP:0000388	Otitis media	85016	CFAP300	ORPHA:244
HP:0000388	Otitis media	339829	CCDC39	ORPHA:244
HP:0000388	Otitis media	8701	DNAH11	ORPHA:244
HP:0000388	Otitis media	8701	DNAH11	OMIM:611884
HP:0000388	Otitis media	1770	DNAH9	ORPHA:244
HP:0000388	Otitis media	81704	DOCK8	OMIM:243700
HP:0000388	Otitis media	2742	GLRA2	OMIM:301076
HP:0000388	Otitis media	55023	PHIP	ORPHA:589905
HP:0000388	Otitis media	29072	SETD2	OMIM:616831
HP:0000388	Otitis media	2316	FLNA	OMIM:309350
HP:0000388	Otitis media	1642	DDB1	OMIM:619426
HP:0000388	Otitis media	388015	RTL1	ORPHA:254531
HP:0000388	Otitis media	388015	RTL1	ORPHA:96184
HP:0000388	Otitis media	8788	DLK1	ORPHA:254531
HP:0000388	Otitis media	8788	DLK1	ORPHA:96184
HP:0000388	Otitis media	55384	MEG3	ORPHA:254531
HP:0000388	Otitis media	55384	MEG3	ORPHA:96184
HP:0000388	Otitis media	695	BTK	OMIM:300755
HP:0000388	Otitis media	695	BTK	OMIM:307200
HP:0000388	Otitis media	4683	NBN	OMIM:251260
HP:0000388	Otitis media	10806	SDCCAG8	OMIM:615993
HP:0000388	Otitis media	100151683	RNU4ATAC	ORPHA:353298
HP:0000388	Otitis media	100151683	RNU4ATAC	OMIM:616651
HP:0000388	Otitis media	3426	CFI	OMIM:610984
HP:0000388	Otitis media	9094	UNC119	OMIM:615518
HP:0000388	Otitis media	79650	USB1	OMIM:604173
HP:0000388	Otitis media	7314	UBB	ORPHA:99772
HP:0000388	Otitis media	57822	GRHL3	ORPHA:99772
HP:0000388	Otitis media	5575	PRKAR1B	OMIM:619680
HP:0000388	Otitis media	10847	SRCAP	OMIM:136140
HP:0000388	Otitis media	11151	CORO1A	OMIM:615401
HP:0000388	Otitis media	4297	KMT2A	OMIM:605130
HP:0000388	Otitis media	57551	TAOK1	OMIM:619575
HP:0000388	Otitis media	84061	MAGT1	OMIM:300853
HP:0000388	Otitis media	2332	FMR1	ORPHA:449291
HP:0000388	Otitis media	6045	RNF2	OMIM:619460
HP:0000388	Otitis media	1280	COL2A1	OMIM:156550
HP:0000388	Otitis media	5718	PSMD12	ORPHA:529962
HP:0000388	Otitis media	2186	BPTF	ORPHA:529962
HP:0000388	Otitis media	1822	ATN1	OMIM:618494
HP:0000388	Otitis media	7403	KDM6A	OMIM:300867
HP:0000388	Otitis media	7403	KDM6A	OMIM:147920
HP:0000388	Otitis media	3560	IL2RB	OMIM:618495
HP:0000388	Otitis media	7454	WAS	OMIM:301000
HP:0000388	Otitis media	57003	CCDC47	OMIM:618268
HP:0000388	Otitis media	5977	DPF2	OMIM:618027
HP:0000388	Otitis media	55329	MNS1	OMIM:618948
HP:0000388	Otitis media	5580	PRKCD	OMIM:615559
HP:0000388	Otitis media	920	CD4	OMIM:619238
HP:0000388	Otitis media	5336	PLCG2	OMIM:614468
HP:0000388	Otitis media	3570	IL6R	OMIM:618944
HP:0000388	Otitis media	3575	IL7R	OMIM:608971
HP:0000388	Otitis media	23112	TNRC6B	OMIM:619243
HP:0000388	Otitis media	51816	ADA2	OMIM:615688
HP:0000388	Otitis media	50615	IL21R	OMIM:615207
HP:0000388	Otitis media	5294	PIK3CG	OMIM:619802
HP:0000388	Otitis media	2799	GNS	OMIM:252940
HP:0000388	Otitis media	10551	AGR2	OMIM:620233
HP:0000388	Otitis media	84905	ZNF341	OMIM:618282
HP:0000388	Otitis media	5879	RAC1	OMIM:617751
HP:0000388	Otitis media	5879	RAC1	ORPHA:500159
HP:0000388	Otitis media	2990	GUSB	OMIM:253220
HP:0000388	Otitis media	5236	PGM1	OMIM:614921
HP:0000388	Otitis media	23765	IL17RA	OMIM:613953
HP:0000388	Otitis media	6850	SYK	OMIM:619381
HP:0000388	Otitis media	341208	HEPHL1	OMIM:261990
HP:0000388	Otitis media	721	C4B	OMIM:614379
HP:0000388	Otitis media	1794	DOCK2	OMIM:616433
HP:0000388	Otitis media	6736	SRY	ORPHA:1772
HP:0000388	Otitis media	5130	PCYT1A	OMIM:608940
HP:0000388	Otitis media	5696	PSMB8	OMIM:256040
HP:0000388	Otitis media	8085	KMT2D	OMIM:147920
HP:0000388	Otitis media	2248	FGF3	ORPHA:2791
HP:0007549	Desquamation of skin soon after birth	7051	TGM1	OMIM:242300
HP:0007549	Desquamation of skin soon after birth	3141	HLCS	ORPHA:79242
HP:0007549	Desquamation of skin soon after birth	6023	RMRP	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	55636	CHD7	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3981	LIG4	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	5896	RAG1	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	5897	RAG2	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	64421	DCLRE1C	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	100	ADA	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3575	IL7R	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3561	IL2RG	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	2629	GBA1	OMIM:608013
HP:0007549	Desquamation of skin soon after birth	10999	SLC27A4	ORPHA:88621
HP:0007545	Congenital palmoplantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0007545	Congenital palmoplantar hyperkeratosis	56916	SMARCAD1	OMIM:181600
HP:0007545	Congenital palmoplantar hyperkeratosis	1075	CTSC	OMIM:245010
HP:0007546	Linear hyperpigmentation	2260	FGFR1	OMIM:613001
HP:0007546	Linear hyperpigmentation	64840	PORCN	OMIM:305600
HP:0010584	Pseudoepiphyses	579	NKX3-2	OMIM:613330
HP:0010584	Pseudoepiphyses	6299	SALL1	OMIM:107480
HP:0010584	Pseudoepiphyses	25839	COG4	OMIM:618150
HP:0010584	Pseudoepiphyses	5116	PCNT	OMIM:210720
HP:0010584	Pseudoepiphyses	6197	RPS6KA3	ORPHA:192
HP:0010584	Pseudoepiphyses	53834	FGFRL1	OMIM:194190
HP:0010584	Pseudoepiphyses	1487	CTBP1	OMIM:194190
HP:0010584	Pseudoepiphyses	3954	LETM1	OMIM:194190
HP:0010584	Pseudoepiphyses	7468	NSD2	OMIM:194190
HP:0010584	Pseudoepiphyses	10815	CPLX1	OMIM:194190
HP:0010584	Pseudoepiphyses	8200	GDF5	ORPHA:93384
HP:0010584	Pseudoepiphyses	8200	GDF5	OMIM:113100
HP:0010584	Pseudoepiphyses	658	BMPR1B	ORPHA:93384
HP:0010584	Pseudoepiphyses	3756	KCNH1	OMIM:611816
HP:0010584	Pseudoepiphyses	4883	NPR3	OMIM:619543
HP:0010584	Pseudoepiphyses	51715	RAB23	OMIM:201000
HP:0010584	Pseudoepiphyses	5745	PTH1R	OMIM:600002
HP:0010584	Pseudoepiphyses	3209	HOXA13	OMIM:140000
HP:0010584	Pseudoepiphyses	6885	MAP3K7	OMIM:157800
HP:0010583	Ivory epiphyses	9451	EIF2AK3	OMIM:226980
HP:0010583	Ivory epiphyses	2074	ERCC6	OMIM:133540
HP:0010583	Ivory epiphyses	1161	ERCC8	OMIM:216400
HP:0010583	Ivory epiphyses	4796	TONSL	ORPHA:93357
HP:0010583	Ivory epiphyses	7227	TRPS1	OMIM:190350
HP:0010583	Ivory epiphyses	10847	SRCAP	OMIM:136140
HP:0010583	Ivory epiphyses	545	ATR	OMIM:210600
HP:0010583	Ivory epiphyses	5116	PCNT	OMIM:210720
HP:0010583	Ivory epiphyses	5130	PCYT1A	ORPHA:85167
HP:0007550	Hypohidrosis or hyperhidrosis	1497	CTNS	OMIM:219800
HP:0007550	Hypohidrosis or hyperhidrosis	54084	TSPEAR	OMIM:618180
HP:0007550	Hypohidrosis or hyperhidrosis	60529	ALX4	OMIM:613451
HP:0007550	Hypohidrosis or hyperhidrosis	54101	RIPK4	ORPHA:1401
HP:0007550	Hypohidrosis or hyperhidrosis	85446	ZFHX2	OMIM:147430
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:614940
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:129490
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:224900
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	29926	GMPPA	OMIM:615510
HP:0007550	Hypohidrosis or hyperhidrosis	8573	CASK	OMIM:300749
HP:0007550	Hypohidrosis or hyperhidrosis	85358	SHANK3	OMIM:606232
HP:0007550	Hypohidrosis or hyperhidrosis	85358	SHANK3	ORPHA:48652
HP:0007550	Hypohidrosis or hyperhidrosis	27235	COQ2	OMIM:146500
HP:0007550	Hypohidrosis or hyperhidrosis	1161	ERCC8	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	2072	ERCC4	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	2074	ERCC6	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	ORPHA:363523
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	OMIM:614576
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	OMIM:615328
HP:0007550	Hypohidrosis or hyperhidrosis	113179	ADAT3	ORPHA:363528
HP:0007550	Hypohidrosis or hyperhidrosis	7051	TGM1	ORPHA:100976
HP:0007550	Hypohidrosis or hyperhidrosis	7051	TGM1	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	4792	NFKBIA	OMIM:612132
HP:0007550	Hypohidrosis or hyperhidrosis	170302	ARX	ORPHA:452
HP:0007550	Hypohidrosis or hyperhidrosis	1896	EDA	OMIM:305100
HP:0007550	Hypohidrosis or hyperhidrosis	1896	EDA	ORPHA:181
HP:0007550	Hypohidrosis or hyperhidrosis	9071	CLDN10	OMIM:617671
HP:0007550	Hypohidrosis or hyperhidrosis	284252	KCTD1	ORPHA:2036
HP:0007550	Hypohidrosis or hyperhidrosis	284252	KCTD1	OMIM:181270
HP:0007550	Hypohidrosis or hyperhidrosis	6786	STIM1	OMIM:612783
HP:0007550	Hypohidrosis or hyperhidrosis	6663	SOX10	ORPHA:163746
HP:0007550	Hypohidrosis or hyperhidrosis	6663	SOX10	OMIM:609136
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	ORPHA:281090
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	OMIM:308100
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	ORPHA:461
HP:0007550	Hypohidrosis or hyperhidrosis	9325	TRIP4	OMIM:616866
HP:0007550	Hypohidrosis or hyperhidrosis	2717	GLA	ORPHA:324
HP:0007550	Hypohidrosis or hyperhidrosis	2717	GLA	OMIM:301500
HP:0007550	Hypohidrosis or hyperhidrosis	6768	ST14	OMIM:602400
HP:0007550	Hypohidrosis or hyperhidrosis	1301	COL11A1	ORPHA:560
HP:0007550	Hypohidrosis or hyperhidrosis	204219	CERS3	OMIM:615023
HP:0007550	Hypohidrosis or hyperhidrosis	204219	CERS3	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	1474	CST6	OMIM:618535
HP:0007550	Hypohidrosis or hyperhidrosis	374393	FAM111B	OMIM:615704
HP:0007550	Hypohidrosis or hyperhidrosis	242	ALOX12B	OMIM:242100
HP:0007550	Hypohidrosis or hyperhidrosis	242	ALOX12B	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	OMIM:242100
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	OMIM:606545
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	10804	GJB6	ORPHA:477
HP:0007550	Hypohidrosis or hyperhidrosis	2706	GJB2	ORPHA:477
HP:0007550	Hypohidrosis or hyperhidrosis	2706	GJB2	OMIM:148210
HP:0007550	Hypohidrosis or hyperhidrosis	348938	NIPAL4	OMIM:612281
HP:0007550	Hypohidrosis or hyperhidrosis	348938	NIPAL4	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	126695	KDF1	OMIM:617337
HP:0007550	Hypohidrosis or hyperhidrosis	126695	KDF1	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	59335	PRDM12	OMIM:616488
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	OMIM:129400
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	OMIM:603543
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	ORPHA:69085
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	ORPHA:1896
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	OMIM:129490
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	OMIM:224900
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	2312	FLG	ORPHA:461
HP:0007550	Hypohidrosis or hyperhidrosis	60401	EDA2R	ORPHA:181
HP:0007550	Hypohidrosis or hyperhidrosis	8567	MADD	OMIM:619004
HP:0007550	Hypohidrosis or hyperhidrosis	6785	ELOVL4	ORPHA:1955
HP:0007550	Hypohidrosis or hyperhidrosis	5422	POLA1	OMIM:301220
HP:0007550	Hypohidrosis or hyperhidrosis	5317	PKP1	ORPHA:158668
HP:0007550	Hypohidrosis or hyperhidrosis	284111	SLC13A5	ORPHA:1946
HP:0007550	Hypohidrosis or hyperhidrosis	79641	ROGDI	ORPHA:1946
HP:0007550	Hypohidrosis or hyperhidrosis	1476	CSTB	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	26154	ABCA12	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	285848	PNPLA1	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	2260	FGFR1	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	128674	PROKR2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	6657	SOX2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	6658	SOX3	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	9915	ARNT2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	8820	HESX1	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	5015	OTX2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	2690	GHR	ORPHA:633
HP:0007550	Hypohidrosis or hyperhidrosis	7189	TRAF6	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	26191	PTPN22	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	3106	HLA-B	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	3106	HLA-B	ORPHA:3287
HP:0007550	Hypohidrosis or hyperhidrosis	3123	HLA-DRB1	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	8974	P4HA2	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	4352	MPL	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	7066	THPO	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	3717	JAK2	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	23769	FLRT1	ORPHA:320406
HP:0007550	Hypohidrosis or hyperhidrosis	64837	KLC2	ORPHA:320406
HP:0007550	Hypohidrosis or hyperhidrosis	64837	KLC2	OMIM:609541
HP:0007550	Hypohidrosis or hyperhidrosis	1291	COL6A1	OMIM:254090
HP:0007550	Hypohidrosis or hyperhidrosis	1292	COL6A2	OMIM:254090
HP:0007550	Hypohidrosis or hyperhidrosis	1293	COL6A3	OMIM:254090
HP:0007550	Hypohidrosis or hyperhidrosis	3094	HINT1	ORPHA:324442
HP:0007550	Hypohidrosis or hyperhidrosis	3094	HINT1	OMIM:137200
HP:0007550	Hypohidrosis or hyperhidrosis	23516	SLC39A14	OMIM:617013
HP:0007550	Hypohidrosis or hyperhidrosis	673	BRAF	OMIM:115150
HP:0007550	Hypohidrosis or hyperhidrosis	673	BRAF	OMIM:613706
HP:0007550	Hypohidrosis or hyperhidrosis	1736	DKC1	OMIM:305000
HP:0007550	Hypohidrosis or hyperhidrosis	1736	DKC1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	6571	SLC18A2	ORPHA:352649
HP:0007550	Hypohidrosis or hyperhidrosis	6571	SLC18A2	OMIM:618049
HP:0007550	Hypohidrosis or hyperhidrosis	3190	HNRNPK	ORPHA:453504
HP:0007550	Hypohidrosis or hyperhidrosis	3190	HNRNPK	ORPHA:352665
HP:0007550	Hypohidrosis or hyperhidrosis	1308	COL17A1	ORPHA:79406
HP:0007550	Hypohidrosis or hyperhidrosis	3481	IGF2	ORPHA:231140
HP:0007550	Hypohidrosis or hyperhidrosis	283120	H19	ORPHA:231140
HP:0007550	Hypohidrosis or hyperhidrosis	3728	JUP	ORPHA:34217
HP:0007550	Hypohidrosis or hyperhidrosis	3074	HEXB	OMIM:268800
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	ORPHA:217059
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	ORPHA:2796
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	OMIM:259100
HP:0007550	Hypohidrosis or hyperhidrosis	1644	DDC	OMIM:608643
HP:0007550	Hypohidrosis or hyperhidrosis	3736	KCNA1	ORPHA:37612
HP:0007550	Hypohidrosis or hyperhidrosis	3508	IGHMBP2	OMIM:604320
HP:0007550	Hypohidrosis or hyperhidrosis	1185	CLCN6	OMIM:619173
HP:0007550	Hypohidrosis or hyperhidrosis	9630	GNA14	ORPHA:1063
HP:0007550	Hypohidrosis or hyperhidrosis	8929	PHOX2B	ORPHA:2151
HP:0007550	Hypohidrosis or hyperhidrosis	8929	PHOX2B	OMIM:209880
HP:0007550	Hypohidrosis or hyperhidrosis	114548	NLRP3	ORPHA:47045
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	OMIM:614441
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	ORPHA:2796
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	OMIM:167100
HP:0007550	Hypohidrosis or hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0007550	Hypohidrosis or hyperhidrosis	83550	GPR101	ORPHA:963
HP:0007550	Hypohidrosis or hyperhidrosis	83550	GPR101	OMIM:300942
HP:0007550	Hypohidrosis or hyperhidrosis	9049	AIP	ORPHA:963
HP:0007550	Hypohidrosis or hyperhidrosis	9049	AIP	ORPHA:99725
HP:0007550	Hypohidrosis or hyperhidrosis	3852	KRT5	ORPHA:79400
HP:0007550	Hypohidrosis or hyperhidrosis	3861	KRT14	ORPHA:79400
HP:0007550	Hypohidrosis or hyperhidrosis	5621	PRNP	OMIM:600072
HP:0007550	Hypohidrosis or hyperhidrosis	1828	DSG1	OMIM:148700
HP:0007550	Hypohidrosis or hyperhidrosis	84133	ZNRF3	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7157	TP53	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	5573	PRKAR1A	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	1499	CTNNB1	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	1029	CDKN2A	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7015	TERT	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7015	TERT	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	6898	TAT	ORPHA:28378
HP:0007550	Hypohidrosis or hyperhidrosis	8802	SUCLG1	OMIM:245400
HP:0007550	Hypohidrosis or hyperhidrosis	8802	SUCLG1	ORPHA:17
HP:0007550	Hypohidrosis or hyperhidrosis	3172	HNF4A	ORPHA:263455
HP:0007550	Hypohidrosis or hyperhidrosis	1508	CTSB	ORPHA:50943
HP:0007550	Hypohidrosis or hyperhidrosis	3977	LIFR	OMIM:601559
HP:0007550	Hypohidrosis or hyperhidrosis	3977	LIFR	ORPHA:3206
HP:0007550	Hypohidrosis or hyperhidrosis	64072	CDH23	ORPHA:91347
HP:0007550	Hypohidrosis or hyperhidrosis	388962	BOLA3	OMIM:614299
HP:0007550	Hypohidrosis or hyperhidrosis	11280	SCN11A	OMIM:615548
HP:0007550	Hypohidrosis or hyperhidrosis	200734	SPRED2	OMIM:619745
HP:0007550	Hypohidrosis or hyperhidrosis	9244	CRLF1	OMIM:272430
HP:0007550	Hypohidrosis or hyperhidrosis	9244	CRLF1	ORPHA:1545
HP:0007550	Hypohidrosis or hyperhidrosis	55768	NGLY1	OMIM:615273
HP:0007550	Hypohidrosis or hyperhidrosis	330	BIRC3	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	10892	MALT1	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	27086	FOXP1	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	3492	IGH	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	8915	BCL10	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	1001	CDH3	OMIM:225280
HP:0007550	Hypohidrosis or hyperhidrosis	5604	MAP2K1	OMIM:615279
HP:0007550	Hypohidrosis or hyperhidrosis	8710	SERPINB7	ORPHA:140966
HP:0007550	Hypohidrosis or hyperhidrosis	773	CACNA1A	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	6507	SLC1A3	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	477	ATP1A2	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	478	ATP1A3	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	4221	MEN1	ORPHA:97279
HP:0007550	Hypohidrosis or hyperhidrosis	4221	MEN1	ORPHA:99725
HP:0007550	Hypohidrosis or hyperhidrosis	7528	YY1	ORPHA:97279
HP:0007550	Hypohidrosis or hyperhidrosis	100134444	KCNJ18	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	2556	GABRA3	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	779	CACNA1S	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	6697	SPR	ORPHA:70594
HP:0007550	Hypohidrosis or hyperhidrosis	2517	FUCA1	ORPHA:349
HP:0007550	Hypohidrosis or hyperhidrosis	8517	IKBKG	ORPHA:464
HP:0007550	Hypohidrosis or hyperhidrosis	2887	GRB10	ORPHA:96182
HP:0007550	Hypohidrosis or hyperhidrosis	5605	MAP2K2	OMIM:615280
HP:0007550	Hypohidrosis or hyperhidrosis	57152	SLURP1	ORPHA:87503
HP:0007550	Hypohidrosis or hyperhidrosis	57152	SLURP1	OMIM:248300
HP:0007550	Hypohidrosis or hyperhidrosis	162514	TRPV3	OMIM:614594
HP:0007550	Hypohidrosis or hyperhidrosis	9373	PLAA	ORPHA:521426
HP:0007550	Hypohidrosis or hyperhidrosis	10161	LPAR6	OMIM:278150
HP:0007550	Hypohidrosis or hyperhidrosis	8450	CUL4B	ORPHA:85293
HP:0007550	Hypohidrosis or hyperhidrosis	55164	SHQ1	OMIM:619922
HP:0007550	Hypohidrosis or hyperhidrosis	3853	KRT6A	OMIM:615726
HP:0007550	Hypohidrosis or hyperhidrosis	595	CCND1	ORPHA:892
HP:0007550	Hypohidrosis or hyperhidrosis	5818	NECTIN1	OMIM:225060
HP:0007550	Hypohidrosis or hyperhidrosis	3868	KRT16	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3857	KRT9	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3848	KRT1	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3593	IL12B	ORPHA:3287
HP:0007550	Hypohidrosis or hyperhidrosis	6945	MLX	ORPHA:3287
HP:0007550	Hypohidrosis or hyperhidrosis	3265	HRAS	ORPHA:2874
HP:0007550	Hypohidrosis or hyperhidrosis	23529	CLCF1	ORPHA:1545
HP:0007550	Hypohidrosis or hyperhidrosis	4914	NTRK1	ORPHA:642
HP:0007550	Hypohidrosis or hyperhidrosis	8803	SUCLA2	OMIM:612073
HP:0007550	Hypohidrosis or hyperhidrosis	667	DST	OMIM:614653
HP:0007550	Hypohidrosis or hyperhidrosis	80169	CTC1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	26277	TINF2	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55651	NHP2	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	79650	USB1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55135	WRAP53	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	51750	RTEL1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	4869	NPM1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	7012	TERC	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55505	NOP10	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	5073	PARN	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	7298	TYMS	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	3145	HMBS	ORPHA:79276
HP:0007550	Hypohidrosis or hyperhidrosis	1188	CLCNKB	ORPHA:358
HP:0007550	Hypohidrosis or hyperhidrosis	6559	SLC12A3	ORPHA:358
HP:0007550	Hypohidrosis or hyperhidrosis	2263	FGFR2	OMIM:101200
HP:0007550	Hypohidrosis or hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0007550	Hypohidrosis or hyperhidrosis	8518	ELP1	OMIM:223900
HP:0007550	Hypohidrosis or hyperhidrosis	7428	VHL	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	7428	VHL	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	1743	DLST	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	5979	RET	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	5979	RET	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	2271	FH	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	55654	TMEM127	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	4763	NF1	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	6391	SDHC	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	6392	SDHD	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	6392	SDHD	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	6390	SDHB	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	6390	SDHB	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	4149	MAX	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	54463	RETREG1	OMIM:613115
HP:0007550	Hypohidrosis or hyperhidrosis	54463	RETREG1	OMIM:201300
HP:0007550	Hypohidrosis or hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0007550	Hypohidrosis or hyperhidrosis	65125	WNK1	OMIM:201300
HP:0007550	Hypohidrosis or hyperhidrosis	6335	SCN9A	OMIM:201300
HP:0007550	Hypohidrosis or hyperhidrosis	547	KIF1A	OMIM:201300
HP:0007550	Hypohidrosis or hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0007550	Hypohidrosis or hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0007550	Hypohidrosis or hyperhidrosis	229	ALDOB	ORPHA:469
HP:0007550	Hypohidrosis or hyperhidrosis	3914	LAMB3	OMIM:226650
HP:0007550	Hypohidrosis or hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0007550	Hypohidrosis or hyperhidrosis	3872	KRT17	OMIM:167210
HP:0007550	Hypohidrosis or hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0007550	Hypohidrosis or hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0007550	Hypohidrosis or hyperhidrosis	64065	PERP	ORPHA:659
HP:0007550	Hypohidrosis or hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0007550	Hypohidrosis or hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0007550	Hypohidrosis or hyperhidrosis	4001	LMNB1	OMIM:169500
HP:0007550	Hypohidrosis or hyperhidrosis	4001	LMNB1	ORPHA:99027
HP:0007550	Hypohidrosis or hyperhidrosis	1041	CDSN	ORPHA:90368
HP:0007550	Hypohidrosis or hyperhidrosis	121391	KRT74	ORPHA:90368
HP:0007550	Hypohidrosis or hyperhidrosis	10558	SPTLC1	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	25923	ATL3	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	9517	SPTLC2	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	51062	ATL1	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	56916	SMARCAD1	OMIM:129200
HP:0007552	Abnormal subcutaneous fat tissue distribution	5373	PMM2	ORPHA:79318
HP:0007552	Abnormal subcutaneous fat tissue distribution	5373	PMM2	OMIM:212065
HP:0007552	Abnormal subcutaneous fat tissue distribution	5566	PRKACA	ORPHA:189439
HP:0007552	Abnormal subcutaneous fat tissue distribution	8622	PDE8B	ORPHA:189439
HP:0007552	Abnormal subcutaneous fat tissue distribution	5573	PRKAR1A	ORPHA:189439
HP:0007552	Abnormal subcutaneous fat tissue distribution	50940	PDE11A	ORPHA:189439
HP:0007552	Abnormal subcutaneous fat tissue distribution	7040	TGFB1	ORPHA:1328
HP:0007552	Abnormal subcutaneous fat tissue distribution	23545	ATP6V0A2	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	523	ATP6V1A	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	529	ATP6V1E1	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	79718	TBL1XR1	ORPHA:487825
HP:0007552	Abnormal subcutaneous fat tissue distribution	5728	PTEN	ORPHA:744
HP:0007552	Abnormal subcutaneous fat tissue distribution	207	AKT1	ORPHA:744
HP:0007553	Congenital symmetrical palmoplantar keratosis	57152	SLURP1	OMIM:248300
HP:0000391	Thickened helices	80267	EDEM3	OMIM:619493
HP:0000391	Thickened helices	6611	SMS	ORPHA:3063
HP:0000391	Thickened helices	84992	PIGY	ORPHA:247262
HP:0000391	Thickened helices	84720	PIGO	ORPHA:247262
HP:0000391	Thickened helices	93210	PGAP3	ORPHA:247262
HP:0000391	Thickened helices	284098	PIGW	ORPHA:247262
HP:0000391	Thickened helices	27315	PGAP2	ORPHA:247262
HP:0000391	Thickened helices	55650	PIGV	ORPHA:247262
HP:0000391	Thickened helices	9487	PIGL	ORPHA:247262
HP:0000391	Thickened helices	8367	H4C5	OMIM:619950
HP:0000391	Thickened helices	94005	PIGS	OMIM:618143
HP:0000391	Thickened helices	1859	DYRK1A	OMIM:614104
HP:0000391	Thickened helices	5925	RB1	ORPHA:1587
HP:0000391	Thickened helices	27125	AFF4	OMIM:616368
HP:0000391	Thickened helices	5894	RAF1	OMIM:611553
HP:0000391	Thickened helices	5894	RAF1	ORPHA:648
HP:0000391	Thickened helices	5604	MAP2K1	ORPHA:1340
HP:0000391	Thickened helices	5605	MAP2K2	ORPHA:1340
HP:0000391	Thickened helices	3845	KRAS	ORPHA:1340
HP:0000391	Thickened helices	3845	KRAS	ORPHA:648
HP:0000391	Thickened helices	3845	KRAS	OMIM:609942
HP:0000391	Thickened helices	673	BRAF	ORPHA:1340
HP:0000391	Thickened helices	673	BRAF	OMIM:613706
HP:0000391	Thickened helices	22800	RRAS2	ORPHA:648
HP:0000391	Thickened helices	867	CBL	ORPHA:648
HP:0000391	Thickened helices	8216	LZTR1	ORPHA:648
HP:0000391	Thickened helices	6016	RIT1	ORPHA:648
HP:0000391	Thickened helices	6237	RRAS	ORPHA:648
HP:0000391	Thickened helices	22808	MRAS	ORPHA:648
HP:0000391	Thickened helices	200734	SPRED2	ORPHA:648
HP:0000391	Thickened helices	4893	NRAS	ORPHA:648
HP:0000391	Thickened helices	6654	SOS1	ORPHA:648
HP:0000391	Thickened helices	6654	SOS1	OMIM:610733
HP:0000391	Thickened helices	6655	SOS2	ORPHA:648
HP:0000391	Thickened helices	5781	PTPN11	ORPHA:648
HP:0000391	Thickened helices	5922	RASA2	ORPHA:648
HP:0000391	Thickened helices	9719	ADAMTSL2	OMIM:231050
HP:0000391	Thickened helices	8405	SPOP	OMIM:618828
HP:0000391	Thickened helices	1000	CDH2	OMIM:618929
HP:0000391	Thickened helices	6925	TCF4	ORPHA:2896
HP:0000391	Thickened helices	6925	TCF4	OMIM:610954
HP:0000391	Thickened helices	11198	SUPT16H	OMIM:619480
HP:0000391	Thickened helices	2200	FBN1	OMIM:608328
HP:0000391	Thickened helices	650	BMP2	ORPHA:261295
HP:0000391	Thickened helices	6872	TAF1	OMIM:300966
HP:0000391	Thickened helices	5087	PBX1	OMIM:617641
HP:0000391	Thickened helices	10220	GDF11	OMIM:619122
HP:0000391	Thickened helices	2263	FGFR2	ORPHA:1555
HP:0000391	Thickened helices	5500	PPP1CB	OMIM:617506
HP:0000391	Thickened helices	129563	DIS3L2	ORPHA:2849
HP:0000391	Thickened helices	64132	XYLT2	ORPHA:85194
HP:0000391	Thickened helices	25942	SIN3A	OMIM:613406
HP:0000394	Lop ear	3476	IGBP1	OMIM:300472
HP:0000394	Lop ear	92002	CCNQ	ORPHA:140952
HP:0000394	Lop ear	92002	CCNQ	OMIM:300707
HP:0000394	Lop ear	55636	CHD7	OMIM:214800
HP:0000394	Lop ear	6299	SALL1	OMIM:107480
HP:0000394	Lop ear	113246	C12orf57	OMIM:218340
HP:0000394	Lop ear	1289	COL5A1	OMIM:130000
HP:0000395	Prominent antihelix	9401	RECQL4	OMIM:268400
HP:0000395	Prominent antihelix	9896	FIG4	OMIM:216340
HP:0000395	Prominent antihelix	2736	GLI2	OMIM:610829
HP:0000395	Prominent antihelix	4247	MGAT2	ORPHA:79329
HP:0000395	Prominent antihelix	6567	SLC16A2	OMIM:300523
HP:0000395	Prominent antihelix	29998	BICRA	OMIM:619325
HP:0000395	Prominent antihelix	1861	TOR1A	OMIM:618947
HP:0000395	Prominent antihelix	7994	KAT6A	OMIM:616268
HP:0000395	Prominent antihelix	2121	EVC	OMIM:193530
HP:0000395	Prominent antihelix	132884	EVC2	OMIM:193530
HP:0000395	Prominent antihelix	80055	PGAP1	OMIM:615802
HP:0000395	Prominent antihelix	7025	NR2F1	OMIM:615722
HP:0000395	Prominent antihelix	23431	AP4E1	OMIM:613744
HP:0000395	Prominent antihelix	9230	RAB11B	OMIM:617807
HP:0000395	Prominent antihelix	51322	WAC	ORPHA:466950
HP:0000395	Prominent antihelix	8241	RBM10	ORPHA:2886
HP:0000395	Prominent antihelix	8241	RBM10	OMIM:311900
HP:0007559	Localized epidermolytic hyperkeratosis	7051	TGM1	ORPHA:281127
HP:0007559	Localized epidermolytic hyperkeratosis	3857	KRT9	OMIM:144200
HP:0033407	Elevated urine acetoacetic acid level	763	CA5A	OMIM:615751
HP:0033407	Elevated urine acetoacetic acid level	3954	LETM1	OMIM:620089
HP:0033401	Tissue ischemia	94	ACVRL1	OMIM:600376
HP:0033401	Tissue ischemia	4854	NOTCH3	ORPHA:136
HP:0033401	Tissue ischemia	51816	ADA2	OMIM:182410
HP:0033401	Tissue ischemia	2022	ENG	OMIM:187300
HP:0033401	Tissue ischemia	81031	SLC2A10	OMIM:208050
HP:0033401	Tissue ischemia	6651	SON	ORPHA:500150
HP:0033401	Tissue ischemia	2982	GUCY1A1	OMIM:615750
HP:0033401	Tissue ischemia	3717	JAK2	OMIM:614521
HP:0033401	Tissue ischemia	50485	SMARCAL1	ORPHA:1830
HP:0033401	Tissue ischemia	6331	SCN5A	ORPHA:1344
HP:0033401	Tissue ischemia	4878	NPPA	ORPHA:1344
HP:0033401	Tissue ischemia	2783	GNB2	OMIM:619503
HP:0033401	Tissue ischemia	79184	BRCC3	ORPHA:280679
HP:0033401	Tissue ischemia	1282	COL4A1	OMIM:175780
HP:0033401	Tissue ischemia	4629	MYH11	ORPHA:91387
HP:0033401	Tissue ischemia	7046	TGFBR1	ORPHA:91387
HP:0033401	Tissue ischemia	7048	TGFBR2	ORPHA:91387
HP:0033401	Tissue ischemia	4015	LOX	ORPHA:91387
HP:0033401	Tissue ischemia	4087	SMAD2	ORPHA:91387
HP:0033401	Tissue ischemia	7043	TGFB3	ORPHA:91387
HP:0033401	Tissue ischemia	4088	SMAD3	ORPHA:91387
HP:0033401	Tissue ischemia	7042	TGFB2	ORPHA:91387
HP:0033401	Tissue ischemia	4089	SMAD4	ORPHA:91387
HP:0033401	Tissue ischemia	2200	FBN1	ORPHA:91387
HP:0033401	Tissue ischemia	59	ACTA2	ORPHA:91387
HP:0033401	Tissue ischemia	5592	PRKG1	ORPHA:91387
HP:0033401	Tissue ischemia	2301	FOXE3	ORPHA:91387
HP:0033401	Tissue ischemia	4144	MAT2A	ORPHA:91387
HP:0033401	Tissue ischemia	23493	HEY2	ORPHA:91387
HP:0033401	Tissue ischemia	8076	MFAP5	ORPHA:91387
HP:0033401	Tissue ischemia	4638	MYLK	ORPHA:91387
HP:0033401	Tissue ischemia	2006	ELN	ORPHA:91387
HP:0033401	Tissue ischemia	2658	GDF2	ORPHA:774
HP:0033401	Tissue ischemia	7092	TLL1	ORPHA:99103
HP:0033401	Tissue ischemia	57057	TBX20	ORPHA:99103
HP:0033401	Tissue ischemia	4624	MYH6	ORPHA:99103
HP:0033401	Tissue ischemia	1482	NKX2-5	ORPHA:99103
HP:0033401	Tissue ischemia	70	ACTC1	ORPHA:99103
HP:0033401	Tissue ischemia	10370	CITED2	ORPHA:99103
HP:0033401	Tissue ischemia	2626	GATA4	ORPHA:99103
HP:0033401	Tissue ischemia	2627	GATA6	ORPHA:99103
HP:0033401	Tissue ischemia	4607	MYBPC3	OMIM:115197
HP:0033401	Tissue ischemia	2717	GLA	OMIM:301500
HP:0033401	Tissue ischemia	2717	GLA	ORPHA:324
HP:0033401	Tissue ischemia	5167	ENPP1	ORPHA:51608
HP:0033401	Tissue ischemia	368	ABCC6	ORPHA:51608
HP:0033401	Tissue ischemia	71	ACTG1	ORPHA:2995
HP:0033401	Tissue ischemia	60	ACTB	ORPHA:2995
HP:0033401	Tissue ischemia	5654	HTRA1	OMIM:600142
HP:0033401	Tissue ischemia	5654	HTRA1	OMIM:616779
HP:0033401	Tissue ischemia	4000	LMNA	ORPHA:740
HP:0033401	Tissue ischemia	10269	ZMPSTE24	ORPHA:740
HP:0033401	Tissue ischemia	1281	COL3A1	ORPHA:286
HP:0033401	Tissue ischemia	1281	COL3A1	ORPHA:231160
HP:0033401	Tissue ischemia	3845	KRAS	OMIM:600268
HP:0033401	Tissue ischemia	10019	SH2B3	ORPHA:3318
HP:0033401	Tissue ischemia	811	CALR	ORPHA:3318
HP:0033401	Tissue ischemia	7157	TP53	ORPHA:3318
HP:0033401	Tissue ischemia	54790	TET2	ORPHA:3318
HP:0033401	Tissue ischemia	57674	RNF213	OMIM:607151
HP:0033401	Tissue ischemia	11093	ADAMTS13	OMIM:274150
HP:0033401	Tissue ischemia	55901	THSD1	ORPHA:231160
HP:0033401	Tissue ischemia	7049	TGFBR3	ORPHA:231160
HP:0033401	Tissue ischemia	83854	ANGPTL6	ORPHA:231160
HP:0033401	Tissue ischemia	26191	PTPN22	ORPHA:397
HP:0033401	Tissue ischemia	26191	PTPN22	ORPHA:900
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:397
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:3287
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:117
HP:0033401	Tissue ischemia	3123	HLA-DRB1	ORPHA:397
HP:0033401	Tissue ischemia	8974	P4HA2	ORPHA:397
HP:0033401	Tissue ischemia	4352	MPL	ORPHA:71493
HP:0033401	Tissue ischemia	7066	THPO	ORPHA:71493
HP:0033401	Tissue ischemia	875	CBS	ORPHA:394
HP:0033401	Tissue ischemia	5290	PIK3CA	ORPHA:60040
HP:0033401	Tissue ischemia	162417	NAGS	ORPHA:927
HP:0033401	Tissue ischemia	4625	MYH7	ORPHA:1880
HP:0033401	Tissue ischemia	6804	STX1A	ORPHA:904
HP:0033401	Tissue ischemia	7461	CLIP2	ORPHA:904
HP:0033401	Tissue ischemia	84277	DNAJC30	ORPHA:904
HP:0033401	Tissue ischemia	8468	FKBP6	ORPHA:904
HP:0033401	Tissue ischemia	5982	RFC2	ORPHA:904
HP:0033401	Tissue ischemia	2969	GTF2I	ORPHA:904
HP:0033401	Tissue ischemia	3984	LIMK1	ORPHA:904
HP:0033401	Tissue ischemia	9569	GTF2IRD1	ORPHA:904
HP:0033401	Tissue ischemia	155382	VPS37D	ORPHA:904
HP:0033401	Tissue ischemia	155368	METTL27	ORPHA:904
HP:0033401	Tissue ischemia	114049	BUD23	ORPHA:904
HP:0033401	Tissue ischemia	7458	EIF4H	ORPHA:904
HP:0033401	Tissue ischemia	84163	GTF2IRD2	ORPHA:904
HP:0033401	Tissue ischemia	9275	BCL7B	ORPHA:904
HP:0033401	Tissue ischemia	26608	TBL2	ORPHA:904
HP:0033401	Tissue ischemia	653361	NCF1	ORPHA:904
HP:0033401	Tissue ischemia	135886	TMEM270	ORPHA:904
HP:0033401	Tissue ischemia	51085	MLXIPL	ORPHA:904
HP:0033401	Tissue ischemia	9031	BAZ1B	ORPHA:904
HP:0033401	Tissue ischemia	6340	SCNN1G	ORPHA:526
HP:0033401	Tissue ischemia	6338	SCNN1B	ORPHA:526
HP:0033401	Tissue ischemia	6337	SCNN1A	ORPHA:526
HP:0033401	Tissue ischemia	3593	IL12B	ORPHA:3287
HP:0033401	Tissue ischemia	6945	MLX	ORPHA:3287
HP:0033401	Tissue ischemia	1493	CTLA4	ORPHA:900
HP:0033401	Tissue ischemia	3115	HLA-DPB1	ORPHA:900
HP:0033401	Tissue ischemia	5657	PRTN3	ORPHA:900
HP:0033401	Tissue ischemia	3113	HLA-DPA1	ORPHA:900
HP:0033401	Tissue ischemia	8517	IKBKG	ORPHA:464
HP:0033401	Tissue ischemia	351	APP	OMIM:605714
HP:0033401	Tissue ischemia	2050	EPHB4	ORPHA:137667
HP:0033401	Tissue ischemia	5921	RASA1	ORPHA:137667
HP:0033401	Tissue ischemia	149233	IL23R	ORPHA:117
HP:0033401	Tissue ischemia	6775	STAT4	ORPHA:117
HP:0033401	Tissue ischemia	3586	IL10	ORPHA:117
HP:0033401	Tissue ischemia	4210	MEFV	ORPHA:117
HP:0033401	Tissue ischemia	1230	CCR1	ORPHA:117
HP:0033401	Tissue ischemia	355	FAS	ORPHA:117
HP:0033401	Tissue ischemia	3592	IL12A	ORPHA:117
HP:0033401	Tissue ischemia	101928376	IL12A-AS1	ORPHA:117
HP:0033401	Tissue ischemia	7099	TLR4	ORPHA:117
HP:0033401	Tissue ischemia	3459	IFNGR1	ORPHA:117
HP:0033401	Tissue ischemia	720	C4A	ORPHA:117
HP:0033401	Tissue ischemia	337867	UBAC2	ORPHA:117
HP:0033401	Tissue ischemia	51752	ERAP1	ORPHA:117
HP:0033401	Tissue ischemia	8302	KLRC4	ORPHA:117
HP:0033401	Tissue ischemia	1499	CTNNB1	ORPHA:54595
HP:0033401	Tissue ischemia	673	BRAF	ORPHA:54595
HP:0033401	Tissue ischemia	79709	COLGALT1	OMIM:618360
HP:0033401	Tissue ischemia	4668	NAGA	OMIM:609242
HP:0033401	Tissue ischemia	5286	PIK3C2A	OMIM:618440
HP:0007569	Generalized seborrheic dermatitis	727	C5	OMIM:609536
HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	27247	NFU1	OMIM:605711
HP:0033417	Elevated circulating hydroxybutyric acid concentration	27247	NFU1	OMIM:605711
HP:0007572	Hyperpigmented streaks	3845	KRAS	OMIM:600268
HP:0007572	Hyperpigmented streaks	54539	NDUFB11	OMIM:300952
HP:0007574	Generalized bronze hyperpigmentation	1583	CYP11A1	ORPHA:289548
HP:0007574	Generalized bronze hyperpigmentation	1583	CYP11A1	ORPHA:168558
HP:0007574	Generalized bronze hyperpigmentation	654	BMP6	ORPHA:465508
HP:0007574	Generalized bronze hyperpigmentation	3077	HFE	ORPHA:465508
HP:0007588	Reticular hyperpigmentation	64840	PORCN	OMIM:305600
HP:0007588	Reticular hyperpigmentation	3861	KRT14	OMIM:161000
HP:0007588	Reticular hyperpigmentation	3861	KRT14	OMIM:125595
HP:0007588	Reticular hyperpigmentation	6117	RPA1	OMIM:619767
HP:0007588	Reticular hyperpigmentation	5422	POLA1	OMIM:301220
HP:0007588	Reticular hyperpigmentation	23509	POFUT1	OMIM:615327
HP:0007588	Reticular hyperpigmentation	26277	TINF2	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7012	TERC	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7015	TERT	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7157	TP53	OMIM:618165
HP:0007588	Reticular hyperpigmentation	79650	USB1	OMIM:604173
HP:0007588	Reticular hyperpigmentation	55651	NHP2	OMIM:224230
HP:0007588	Reticular hyperpigmentation	55505	NOP10	OMIM:224230
HP:0033429	Neuroinflammation	51284	TLR7	OMIM:301080
HP:0033429	Neuroinflammation	8517	IKBKG	OMIM:301081
HP:0033429	Neuroinflammation	7084	TK2	ORPHA:254886
HP:0033429	Neuroinflammation	5428	POLG	ORPHA:254886
HP:0033429	Neuroinflammation	149233	IL23R	ORPHA:117
HP:0033429	Neuroinflammation	6775	STAT4	ORPHA:117
HP:0033429	Neuroinflammation	3586	IL10	ORPHA:117
HP:0033429	Neuroinflammation	4210	MEFV	ORPHA:117
HP:0033429	Neuroinflammation	1230	CCR1	ORPHA:117
HP:0033429	Neuroinflammation	355	FAS	ORPHA:117
HP:0033429	Neuroinflammation	3592	IL12A	ORPHA:117
HP:0033429	Neuroinflammation	101928376	IL12A-AS1	ORPHA:117
HP:0033429	Neuroinflammation	3106	HLA-B	ORPHA:117
HP:0033429	Neuroinflammation	7099	TLR4	ORPHA:117
HP:0033429	Neuroinflammation	3459	IFNGR1	ORPHA:117
HP:0033429	Neuroinflammation	720	C4A	ORPHA:117
HP:0033429	Neuroinflammation	337867	UBAC2	ORPHA:117
HP:0033429	Neuroinflammation	51752	ERAP1	ORPHA:117
HP:0033429	Neuroinflammation	8302	KLRC4	ORPHA:117
HP:0033429	Neuroinflammation	9692	PRORP	OMIM:619737
HP:0033429	Neuroinflammation	114548	NLRP3	ORPHA:1451
HP:0033429	Neuroinflammation	64127	NOD2	ORPHA:90340
HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	3777	KCNK3	OMIM:615344
HP:0033425	Periungual erythema	51360	MBTPS2	OMIM:308205
HP:0033425	Periungual erythema	340061	STING1	OMIM:615934
HP:0007583	Telangiectasia macularis eruptiva perstans	3815	KIT	ORPHA:79455
HP:0007583	Telangiectasia macularis eruptiva perstans	3815	KIT	OMIM:154800
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:158681
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79397
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79399
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79400
HP:0007585	Skin fragility with non-scarring blistering	5339	PLEC	OMIM:131950
HP:0007585	Skin fragility with non-scarring blistering	5339	PLEC	ORPHA:158684
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79397
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79399
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79400
HP:0007585	Skin fragility with non-scarring blistering	3691	ITGB4	ORPHA:158684
HP:0007587	Numerous pigmented freckles	2072	ERCC4	OMIM:278760
HP:0007587	Numerous pigmented freckles	2072	ERCC4	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2068	ERCC2	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2068	ERCC2	ORPHA:33364
HP:0007587	Numerous pigmented freckles	2073	ERCC5	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2071	ERCC3	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2071	ERCC3	ORPHA:33364
HP:0007587	Numerous pigmented freckles	404672	GTF2H5	ORPHA:33364
HP:0007587	Numerous pigmented freckles	833	CARS1	ORPHA:33364
HP:0007587	Numerous pigmented freckles	7737	RNF113A	ORPHA:33364
HP:0007587	Numerous pigmented freckles	136647	MPLKIP	ORPHA:33364
HP:0007587	Numerous pigmented freckles	6897	TARS1	ORPHA:33364
HP:0007587	Numerous pigmented freckles	2961	GTF2E2	ORPHA:33364
HP:0007587	Numerous pigmented freckles	4286	MITF	OMIM:193510
HP:0007589	Aplasia cutis congenita on trunk or limbs	3655	ITGA6	OMIM:619817
HP:0007589	Aplasia cutis congenita on trunk or limbs	57514	ARHGAP31	OMIM:100300
HP:0007589	Aplasia cutis congenita on trunk or limbs	3852	KRT5	ORPHA:79396
HP:0007589	Aplasia cutis congenita on trunk or limbs	3861	KRT14	ORPHA:79396
HP:0007589	Aplasia cutis congenita on trunk or limbs	3861	KRT14	ORPHA:89838
HP:0007589	Aplasia cutis congenita on trunk or limbs	5339	PLEC	OMIM:226730
HP:0007589	Aplasia cutis congenita on trunk or limbs	5339	PLEC	ORPHA:158684
HP:0007589	Aplasia cutis congenita on trunk or limbs	3691	ITGB4	OMIM:226730
HP:0007589	Aplasia cutis congenita on trunk or limbs	3691	ITGB4	ORPHA:158684
HP:0033434	Nasal septum perforation	340061	STING1	OMIM:615934
HP:0007590	Aplasia cutis congenita over posterior parietal area	57514	ARHGAP31	OMIM:100300
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	4000	LMNA	ORPHA:1662
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	10269	ZMPSTE24	ORPHA:1662
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	1896	EDA	OMIM:305100
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	8517	IKBKG	OMIM:300291
HP:0007598	Bilateral single transverse palmar creases	7291	TWIST1	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	2263	FGFR2	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	2261	FGFR3	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	23476	BRD4	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	9126	SMC3	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	8243	SMC1A	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	25836	NIPBL	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	55869	HDAC8	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	5885	RAD21	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	5792	PTPRF	OMIM:616001
HP:0007598	Bilateral single transverse palmar creases	10908	PNPLA6	ORPHA:2377
HP:0007598	Bilateral single transverse palmar creases	9894	TELO2	ORPHA:488642
HP:0007598	Bilateral single transverse palmar creases	9759	HDAC4	ORPHA:1001
HP:0007598	Bilateral single transverse palmar creases	100151683	RNU4ATAC	ORPHA:353298
HP:0007598	Bilateral single transverse palmar creases	100151683	RNU4ATAC	ORPHA:2636
HP:0007598	Bilateral single transverse palmar creases	157570	ESCO2	ORPHA:3103
HP:0007598	Bilateral single transverse palmar creases	5184	PEPD	ORPHA:742
HP:0007598	Bilateral single transverse palmar creases	2131	EXT1	ORPHA:502
HP:0007598	Bilateral single transverse palmar creases	7227	TRPS1	ORPHA:502
HP:0007598	Bilateral single transverse palmar creases	283989	TSEN54	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	116461	TSEN15	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	79042	TSEN34	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	80746	TSEN2	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	51091	SEPSECS	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	129563	DIS3L2	ORPHA:2849
HP:0007598	Bilateral single transverse palmar creases	5818	NECTIN1	ORPHA:3253
HP:0007598	Bilateral single transverse palmar creases	150468	CKAP2L	ORPHA:3255
HP:0007598	Bilateral single transverse palmar creases	55670	PEX26	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5824	PEX19	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5828	PEX2	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	8504	PEX3	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	9409	PEX16	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5190	PEX6	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	8799	PEX11B	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5830	PEX5	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5189	PEX1	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5193	PEX12	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5194	PEX13	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5195	PEX14	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5192	PEX10	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	9469	CHST3	OMIM:143095
HP:0007598	Bilateral single transverse palmar creases	7140	TNNT3	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	4621	MYH3	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	7169	TPM2	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	259232	NALCN	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	7136	TNNI2	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	23511	NUP188	OMIM:618804
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:2639
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:968
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:3237
HP:0007598	Bilateral single transverse palmar creases	658	BMPR1B	ORPHA:2639
HP:0007598	Bilateral single transverse palmar creases	4087	SMAD2	OMIM:619657
HP:0007598	Bilateral single transverse palmar creases	64359	NXN	ORPHA:1507
HP:0007598	Bilateral single transverse palmar creases	4920	ROR2	ORPHA:1507
HP:0007598	Bilateral single transverse palmar creases	10225	CD96	ORPHA:1308
HP:0007598	Bilateral single transverse palmar creases	23522	KAT6B	ORPHA:3047
HP:0007598	Bilateral single transverse palmar creases	147372	CCBE1	OMIM:235510
HP:0007598	Bilateral single transverse palmar creases	64093	SMOC1	ORPHA:1106
HP:0007598	Bilateral single transverse palmar creases	9896	FIG4	OMIM:216340
HP:0007598	Bilateral single transverse palmar creases	9496	TBX4	ORPHA:261279
HP:0007598	Bilateral single transverse palmar creases	1801	DPH1	ORPHA:459061
HP:0007598	Bilateral single transverse palmar creases	9241	NOG	ORPHA:3237
HP:0007598	Bilateral single transverse palmar creases	2254	FGF9	ORPHA:3237
HP:0007599	Generalized reticulate brown pigmentation	3852	KRT5	ORPHA:158681
HP:0007599	Generalized reticulate brown pigmentation	3852	KRT5	ORPHA:79396
HP:0007599	Generalized reticulate brown pigmentation	3861	KRT14	ORPHA:69087
HP:0007599	Generalized reticulate brown pigmentation	3861	KRT14	ORPHA:79396
HP:0007599	Generalized reticulate brown pigmentation	5422	POLA1	OMIM:301220
HP:0033444	Elevated circulating dodecanoylcarnitine concentration	51241	COX16	OMIM:619355
HP:0033443	Elevated circulating propionylcarnitine concentration	55788	LMBRD1	OMIM:277380
HP:0033443	Elevated circulating propionylcarnitine concentration	5826	ABCD4	OMIM:614857
HP:0033446	Elevated circulating butyrylcarnitine concentration	23474	ETHE1	OMIM:602473
HP:0033454	Tube feeding	8626	TP63	OMIM:106260
HP:0033454	Tube feeding	80267	EDEM3	OMIM:619493
HP:0033454	Tube feeding	84340	GFM2	ORPHA:565624
HP:0033454	Tube feeding	1351	COX8A	OMIM:619059
HP:0033454	Tube feeding	10664	CTCF	ORPHA:363611
HP:0033454	Tube feeding	284058	KANSL1	ORPHA:363958
HP:0033454	Tube feeding	284058	KANSL1	ORPHA:363965
HP:0033454	Tube feeding	1859	DYRK1A	ORPHA:268261
HP:0033454	Tube feeding	10846	PDE10A	ORPHA:494526
HP:0033454	Tube feeding	8218	CLTCL1	ORPHA:453510
HP:0033454	Tube feeding	51604	PIGT	ORPHA:369837
HP:0033454	Tube feeding	1387	CREBBP	ORPHA:353277
HP:0033454	Tube feeding	23314	SATB2	ORPHA:251028
HP:0033454	Tube feeding	2917	GRM7	OMIM:618922
HP:0033454	Tube feeding	259232	NALCN	ORPHA:371364
HP:0033454	Tube feeding	285175	UNC80	ORPHA:371364
HP:0033454	Tube feeding	2581	GALC	ORPHA:206436
HP:0033454	Tube feeding	5660	PSAP	ORPHA:206436
HP:0033454	Tube feeding	3190	HNRNPK	ORPHA:352665
HP:0033454	Tube feeding	3190	HNRNPK	ORPHA:453504
HP:0033454	Tube feeding	22827	PUF60	ORPHA:508488
HP:0033454	Tube feeding	57190	SELENON	ORPHA:2020
HP:0033454	Tube feeding	58	ACTA1	ORPHA:2020
HP:0033454	Tube feeding	4633	MYL2	ORPHA:2020
HP:0033454	Tube feeding	3679	ITGA7	ORPHA:2020
HP:0033454	Tube feeding	7169	TPM2	ORPHA:2020
HP:0033454	Tube feeding	9200	HACD1	ORPHA:2020
HP:0033454	Tube feeding	7170	TPM3	ORPHA:2020
HP:0033454	Tube feeding	51776	MAP3K20	ORPHA:2020
HP:0033454	Tube feeding	4556	MT-TE	ORPHA:254864
HP:0033454	Tube feeding	55687	TRMU	ORPHA:254864
HP:0033454	Tube feeding	84706	GPT2	ORPHA:477673
HP:0033454	Tube feeding	10342	TFG	ORPHA:90117
HP:0033454	Tube feeding	2033	EP300	ORPHA:353284
HP:0033454	Tube feeding	6638	SNRPN	ORPHA:177907
HP:0033454	Tube feeding	3417	IDH1	ORPHA:99646
HP:0033454	Tube feeding	7528	YY1	ORPHA:506358
HP:0033454	Tube feeding	10059	DNM1L	ORPHA:330050
HP:0033454	Tube feeding	23394	ADNP	ORPHA:404448
HP:0033454	Tube feeding	91574	MTRFR	ORPHA:254930
HP:0033454	Tube feeding	10466	COG5	ORPHA:263487
HP:0033454	Tube feeding	26005	C2CD3	ORPHA:434179
HP:0033454	Tube feeding	1861	TOR1A	OMIM:618947
HP:0033454	Tube feeding	1280	COL2A1	ORPHA:93316
HP:0033454	Tube feeding	673	BRAF	OMIM:115150
HP:0033454	Tube feeding	4897	NRCAM	OMIM:619833
HP:0033454	Tube feeding	6323	SCN1A	OMIM:619317
HP:0033454	Tube feeding	6328	SCN3A	OMIM:617938
HP:0033454	Tube feeding	23345	SYNE1	ORPHA:319332
HP:0033454	Tube feeding	8405	SPOP	OMIM:618828
HP:0033454	Tube feeding	10128	LRPPRC	ORPHA:70472
HP:0033454	Tube feeding	7343	UBTF	ORPHA:500180
HP:0033454	Tube feeding	128869	PIGU	OMIM:618590
HP:0033454	Tube feeding	27125	AFF4	ORPHA:444077
HP:0033454	Tube feeding	4247	MGAT2	ORPHA:79329
HP:0033454	Tube feeding	283446	MYO1H	OMIM:619482
HP:0033454	Tube feeding	5631	PRPS1	ORPHA:423479
HP:0033454	Tube feeding	2521	FUS	ORPHA:300605
HP:0033454	Tube feeding	80208	SPG11	ORPHA:300605
HP:0033454	Tube feeding	10280	SIGMAR1	ORPHA:300605
HP:0033454	Tube feeding	10558	SPTLC1	ORPHA:300605
HP:0033454	Tube feeding	57679	ALS2	ORPHA:300605
HP:0033454	Tube feeding	80232	WDR26	ORPHA:513456
HP:0033454	Tube feeding	51112	TRAPPC12	ORPHA:500144
HP:0033454	Tube feeding	2222	FDFT1	OMIM:618156
HP:0033454	Tube feeding	253959	RALGAPA1	OMIM:618797
HP:0033454	Tube feeding	7204	TRIO	ORPHA:476126
HP:0033454	Tube feeding	83737	ITCH	OMIM:613385
HP:0033454	Tube feeding	83737	ITCH	ORPHA:228426
HP:0033454	Tube feeding	1294	COL7A1	ORPHA:89842
HP:0033454	Tube feeding	7358	UGDH	OMIM:618792
HP:0033454	Tube feeding	28514	DLL1	ORPHA:280195
HP:0033454	Tube feeding	28514	DLL1	ORPHA:220386
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93926
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93924
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93925
HP:0033454	Tube feeding	2253	FGF8	ORPHA:280195
HP:0033454	Tube feeding	2253	FGF8	ORPHA:220386
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93926
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93924
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93925
HP:0033454	Tube feeding	6496	SIX3	ORPHA:280195
HP:0033454	Tube feeding	6496	SIX3	ORPHA:220386
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93926
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93924
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93925
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:280195
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:220386
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93926
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93924
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93925
HP:0033454	Tube feeding	4838	NODAL	ORPHA:280195
HP:0033454	Tube feeding	4838	NODAL	ORPHA:220386
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93926
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93924
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93925
HP:0033454	Tube feeding	6469	SHH	ORPHA:280195
HP:0033454	Tube feeding	6469	SHH	ORPHA:220386
HP:0033454	Tube feeding	6469	SHH	ORPHA:93926
HP:0033454	Tube feeding	6469	SHH	ORPHA:93924
HP:0033454	Tube feeding	6469	SHH	ORPHA:93925
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:280195
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:220386
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93926
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93924
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93925
HP:0033454	Tube feeding	6491	STIL	ORPHA:280195
HP:0033454	Tube feeding	6491	STIL	ORPHA:220386
HP:0033454	Tube feeding	6491	STIL	ORPHA:93926
HP:0033454	Tube feeding	6491	STIL	ORPHA:93924
HP:0033454	Tube feeding	6491	STIL	ORPHA:93925
HP:0033454	Tube feeding	2619	GAS1	ORPHA:280195
HP:0033454	Tube feeding	2619	GAS1	ORPHA:220386
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93926
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93924
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93925
HP:0033454	Tube feeding	84976	DISP1	ORPHA:280195
HP:0033454	Tube feeding	84976	DISP1	ORPHA:220386
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93926
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93924
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93925
HP:0033454	Tube feeding	2736	GLI2	ORPHA:280195
HP:0033454	Tube feeding	2736	GLI2	ORPHA:220386
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93926
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93924
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93925
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:280195
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:220386
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93926
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93924
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93925
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:280195
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:220386
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93926
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93924
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93925
HP:0033454	Tube feeding	50937	CDON	ORPHA:280195
HP:0033454	Tube feeding	50937	CDON	ORPHA:220386
HP:0033454	Tube feeding	50937	CDON	ORPHA:93926
HP:0033454	Tube feeding	50937	CDON	ORPHA:93924
HP:0033454	Tube feeding	50937	CDON	ORPHA:93925
HP:0033454	Tube feeding	283989	TSEN54	ORPHA:2524
HP:0033454	Tube feeding	116461	TSEN15	ORPHA:2524
HP:0033454	Tube feeding	79042	TSEN34	ORPHA:2524
HP:0033454	Tube feeding	80746	TSEN2	ORPHA:2524
HP:0033454	Tube feeding	51091	SEPSECS	ORPHA:2524
HP:0033454	Tube feeding	80055	PGAP1	OMIM:615802
HP:0033454	Tube feeding	55152	DALRD3	OMIM:618910
HP:0033454	Tube feeding	79633	FAT4	ORPHA:314679
HP:0033454	Tube feeding	8642	DCHS1	ORPHA:314679
HP:0033454	Tube feeding	388015	RTL1	ORPHA:96334
HP:0033454	Tube feeding	8788	DLK1	ORPHA:96334
HP:0033454	Tube feeding	55384	MEG3	ORPHA:96334
HP:0033454	Tube feeding	9338	TCEAL1	OMIM:301094
HP:0033454	Tube feeding	443	ASPA	ORPHA:314911
HP:0033454	Tube feeding	87178	PNPT1	ORPHA:319514
HP:0033454	Tube feeding	79158	GNPTAB	ORPHA:576
HP:0033454	Tube feeding	1185	CLCN6	OMIM:619173
HP:0033454	Tube feeding	84992	PIGY	ORPHA:247262
HP:0033454	Tube feeding	84720	PIGO	ORPHA:247262
HP:0033454	Tube feeding	93210	PGAP3	ORPHA:247262
HP:0033454	Tube feeding	284098	PIGW	ORPHA:247262
HP:0033454	Tube feeding	27315	PGAP2	ORPHA:247262
HP:0033454	Tube feeding	55650	PIGV	ORPHA:247262
HP:0033454	Tube feeding	9487	PIGL	ORPHA:247262
HP:0033454	Tube feeding	57107	PDSS2	ORPHA:255249
HP:0033454	Tube feeding	27235	COQ2	ORPHA:255249
HP:0033454	Tube feeding	6651	SON	ORPHA:500150
HP:0033454	Tube feeding	2260	FGFR1	ORPHA:220386
HP:0033454	Tube feeding	2260	FGFR1	ORPHA:93924
HP:0033454	Tube feeding	10735	STAG2	ORPHA:220386
HP:0033454	Tube feeding	10735	STAG2	ORPHA:93925
HP:0033454	Tube feeding	8243	SMC1A	ORPHA:220386
HP:0033454	Tube feeding	93627	TBCK	OMIM:616900
HP:0033454	Tube feeding	8560	DEGS1	OMIM:618404
HP:0033454	Tube feeding	819	CAMLG	OMIM:620201
HP:0033454	Tube feeding	2055	CLN8	ORPHA:1947
HP:0033454	Tube feeding	9361	LONP1	ORPHA:79243
HP:0033454	Tube feeding	5160	PDHA1	ORPHA:79243
HP:0033454	Tube feeding	57731	SPTBN4	OMIM:617519
HP:0033454	Tube feeding	8813	DPM1	ORPHA:79322
HP:0033454	Tube feeding	6509	SLC1A4	ORPHA:447997
HP:0033454	Tube feeding	79087	ALG12	ORPHA:79324
HP:0033454	Tube feeding	641	BLM	ORPHA:125
HP:0033454	Tube feeding	29968	PSAT1	ORPHA:284417
HP:0033454	Tube feeding	8884	SLC5A6	OMIM:618973
HP:0033454	Tube feeding	25930	PTPN23	OMIM:618890
HP:0033454	Tube feeding	131377	KLHL40	OMIM:615348
HP:0033454	Tube feeding	23007	PLCH1	ORPHA:93925
HP:0033454	Tube feeding	5518	PPP2R1A	ORPHA:457284
HP:0033454	Tube feeding	11342	RNF13	ORPHA:544503
HP:0033454	Tube feeding	3852	KRT5	ORPHA:79396
HP:0033454	Tube feeding	3861	KRT14	ORPHA:79396
HP:0033454	Tube feeding	9325	TRIP4	ORPHA:486815
HP:0033454	Tube feeding	26040	SETBP1	ORPHA:798
HP:0033454	Tube feeding	2019	EN1	OMIM:619218
HP:0033454	Tube feeding	25828	TXN2	ORPHA:478029
HP:0033454	Tube feeding	126792	B3GALT6	OMIM:609465
HP:0033454	Tube feeding	5700	PSMC1	OMIM:620071
HP:0033454	Tube feeding	10043	TOM1	OMIM:619510
HP:0033454	Tube feeding	9578	CDC42BPB	OMIM:619841
HP:0033454	Tube feeding	81570	CLPB	OMIM:616271
HP:0033454	Tube feeding	9851	KIAA0753	OMIM:619479
HP:0033454	Tube feeding	8789	FBP2	OMIM:619864
HP:0033454	Tube feeding	8260	NAA10	OMIM:300855
HP:0033454	Tube feeding	5913	RAPSN	OMIM:616326
HP:0033454	Tube feeding	8565	YARS1	OMIM:619418
HP:0033454	Tube feeding	1841	DTYMK	OMIM:619847
HP:0033454	Tube feeding	56479	KCNQ5	OMIM:617601
HP:0033454	Tube feeding	2058	EPRS1	OMIM:617951
HP:0033454	Tube feeding	2799	GNS	OMIM:252940
HP:0033454	Tube feeding	3913	LAMB2	OMIM:609049
HP:0033454	Tube feeding	4534	MTM1	OMIM:310400
HP:0033454	Tube feeding	7681	MKRN3	OMIM:176270
HP:0033454	Tube feeding	3653	IPW	OMIM:176270
HP:0033454	Tube feeding	791114	PWRN1	OMIM:176270
HP:0033454	Tube feeding	100033413	SNORD116-1	OMIM:176270
HP:0033454	Tube feeding	8924	HERC2	OMIM:176270
HP:0033454	Tube feeding	145624	PWAR1	OMIM:176270
HP:0033454	Tube feeding	23742	NPAP1	OMIM:176270
HP:0033454	Tube feeding	338433	SNORD115-1	OMIM:176270
HP:0033454	Tube feeding	1759	DNM1	OMIM:620352
HP:0033454	Tube feeding	4841	NONO	ORPHA:466791
HP:0033454	Tube feeding	7809	BSND	ORPHA:89938
HP:0033454	Tube feeding	1188	CLCNKB	ORPHA:89938
HP:0033454	Tube feeding	1187	CLCNKA	ORPHA:89938
HP:0033454	Tube feeding	85365	ALG2	OMIM:607906
HP:0033454	Tube feeding	215	ABCD1	ORPHA:139396
HP:0033454	Tube feeding	55037	PTCD3	OMIM:619057
HP:0033454	Tube feeding	50943	FOXP3	ORPHA:37042
HP:0033454	Tube feeding	9401	RECQL4	ORPHA:221016
HP:0033454	Tube feeding	54551	MAGEL2	ORPHA:398069
HP:0033454	Tube feeding	7355	SLC35A2	ORPHA:356961
HP:0033454	Tube feeding	8818	DPM2	ORPHA:329178
HP:0033454	Tube feeding	51322	WAC	ORPHA:466950
HP:0033454	Tube feeding	378884	NHLRC1	ORPHA:501
HP:0033454	Tube feeding	7957	EPM2A	ORPHA:501
HP:0033454	Tube feeding	5293	PIK3CD	ORPHA:221139
HP:0033454	Tube feeding	90417	KNSTRN	ORPHA:221139
HP:0033454	Tube feeding	9526	MPDU1	ORPHA:79323
HP:0033454	Tube feeding	5354	PLP1	ORPHA:280210
HP:0033454	Tube feeding	197322	ACSF3	ORPHA:289504
HP:0033454	Tube feeding	55610	VPS50	OMIM:619685
HP:0033454	Tube feeding	374879	ZNF699	OMIM:619488
HP:0033454	Tube feeding	79587	CARS2	ORPHA:477774
HP:0033454	Tube feeding	80816	ASXL3	OMIM:615485
HP:0033454	Tube feeding	57520	HECW2	OMIM:617268
HP:0033454	Tube feeding	51305	KCNK9	ORPHA:166108
HP:0033454	Tube feeding	56947	MFF	ORPHA:485421
HP:0033454	Tube feeding	10157	AASS	ORPHA:2203
HP:0033454	Tube feeding	6492	SIM1	ORPHA:398079
HP:0033454	Tube feeding	55690	PACS1	ORPHA:329224
HP:0033454	Tube feeding	112939	NACC1	ORPHA:500545
HP:0033454	Tube feeding	2783	GNB2	OMIM:619503
HP:0033454	Tube feeding	4632	MYL1	OMIM:618414
HP:0033454	Tube feeding	10847	SRCAP	ORPHA:2044
HP:0033454	Tube feeding	7841	MOGS	ORPHA:79330
HP:0033454	Tube feeding	2902	GRIN1	ORPHA:208447
HP:0033454	Tube feeding	1288	COL4A6	ORPHA:1018
HP:0033454	Tube feeding	1287	COL4A5	ORPHA:1018
HP:0033454	Tube feeding	64682	ANAPC1	ORPHA:221008
HP:0003215	Dicarboxylic aciduria	79783	SUGCT	ORPHA:35706
HP:0003215	Dicarboxylic aciduria	79783	SUGCT	OMIM:231690
HP:0003215	Dicarboxylic aciduria	2639	GCDH	ORPHA:25
HP:0003215	Dicarboxylic aciduria	2639	GCDH	OMIM:231670
HP:0003215	Dicarboxylic aciduria	728294	D2HGDH	OMIM:600721
HP:0003215	Dicarboxylic aciduria	3155	HMGCL	OMIM:246450
HP:0003215	Dicarboxylic aciduria	2108	ETFA	OMIM:231680
HP:0003215	Dicarboxylic aciduria	2109	ETFB	OMIM:231680
HP:0003215	Dicarboxylic aciduria	2110	ETFDH	OMIM:231680
HP:0003215	Dicarboxylic aciduria	37	ACADVL	OMIM:201475
HP:0003215	Dicarboxylic aciduria	3033	HADH	OMIM:231530
HP:0003215	Dicarboxylic aciduria	3033	HADH	ORPHA:71212
HP:0003215	Dicarboxylic aciduria	1374	CPT1A	OMIM:255120
HP:0003215	Dicarboxylic aciduria	55065	SLC52A1	OMIM:615026
HP:0003215	Dicarboxylic aciduria	788	SLC25A20	OMIM:212138
HP:0003215	Dicarboxylic aciduria	788	SLC25A20	ORPHA:159
HP:0003215	Dicarboxylic aciduria	28976	ACAD9	OMIM:611126
HP:0003215	Dicarboxylic aciduria	28976	ACAD9	ORPHA:99901
HP:0003215	Dicarboxylic aciduria	5195	PEX14	OMIM:614887
HP:0003215	Dicarboxylic aciduria	27034	ACAD8	ORPHA:79159
HP:0003215	Dicarboxylic aciduria	6584	SLC22A5	OMIM:212140
HP:0003215	Dicarboxylic aciduria	23474	ETHE1	ORPHA:51188
HP:0003215	Dicarboxylic aciduria	23474	ETHE1	OMIM:602473
HP:0003215	Dicarboxylic aciduria	3329	HSPD1	OMIM:612233
HP:0003215	Dicarboxylic aciduria	5428	POLG	OMIM:203700
HP:0003215	Dicarboxylic aciduria	4724	NDUFS4	OMIM:252010
HP:0003215	Dicarboxylic aciduria	51241	COX16	OMIM:619355
HP:0003215	Dicarboxylic aciduria	55687	TRMU	OMIM:613070
HP:0003215	Dicarboxylic aciduria	1376	CPT2	OMIM:608836
HP:0003215	Dicarboxylic aciduria	34	ACADM	OMIM:201450
HP:0003215	Dicarboxylic aciduria	197322	ACSF3	OMIM:614265
HP:0003215	Dicarboxylic aciduria	197322	ACSF3	ORPHA:289504
HP:0003215	Dicarboxylic aciduria	119559	SFXN4	OMIM:615578
HP:0003215	Dicarboxylic aciduria	25974	MMACHC	ORPHA:79282
HP:0003215	Dicarboxylic aciduria	25974	MMACHC	OMIM:277400
HP:0003215	Dicarboxylic aciduria	3054	HCFC1	OMIM:309541
HP:0003215	Dicarboxylic aciduria	4329	ALDH6A1	OMIM:614105
HP:0003215	Dicarboxylic aciduria	6948	TCN2	OMIM:275350
HP:0003215	Dicarboxylic aciduria	6948	TCN2	ORPHA:859
HP:0003215	Dicarboxylic aciduria	55788	LMBRD1	ORPHA:79284
HP:0003215	Dicarboxylic aciduria	55788	LMBRD1	OMIM:277380
HP:0003215	Dicarboxylic aciduria	27249	MMADHC	OMIM:277410
HP:0003215	Dicarboxylic aciduria	4594	MMUT	OMIM:251000
HP:0003215	Dicarboxylic aciduria	84693	MCEE	OMIM:251120
HP:0003215	Dicarboxylic aciduria	166785	MMAA	OMIM:251100
HP:0003215	Dicarboxylic aciduria	4552	MTRR	OMIM:236270
HP:0003215	Dicarboxylic aciduria	8802	SUCLG1	OMIM:245400
HP:0003215	Dicarboxylic aciduria	8802	SUCLG1	ORPHA:17
HP:0003215	Dicarboxylic aciduria	8803	SUCLA2	OMIM:612073
HP:0003215	Dicarboxylic aciduria	8803	SUCLA2	ORPHA:1933
HP:0003215	Dicarboxylic aciduria	51293	CD320	OMIM:613646
HP:0003215	Dicarboxylic aciduria	5826	ABCD4	OMIM:614857
HP:0003215	Dicarboxylic aciduria	4548	MTR	OMIM:250940
HP:0003215	Dicarboxylic aciduria	326625	MMAB	OMIM:251110
HP:0003215	Dicarboxylic aciduria	5052	PRDX1	OMIM:277400
HP:0003215	Dicarboxylic aciduria	5498	PPOX	OMIM:176200
HP:0003215	Dicarboxylic aciduria	5498	PPOX	ORPHA:79473
HP:0003215	Dicarboxylic aciduria	3077	HFE	OMIM:176200
HP:0003215	Dicarboxylic aciduria	1371	CPOX	ORPHA:79273
HP:0003215	Dicarboxylic aciduria	1371	CPOX	OMIM:121300
HP:0003215	Dicarboxylic aciduria	1371	CPOX	OMIM:618892
HP:0003215	Dicarboxylic aciduria	210	ALAD	ORPHA:100924
HP:0003215	Dicarboxylic aciduria	3145	HMBS	ORPHA:79276
HP:0003215	Dicarboxylic aciduria	7390	UROS	ORPHA:79277
HP:0003215	Dicarboxylic aciduria	2623	GATA1	ORPHA:79277
HP:0003215	Dicarboxylic aciduria	3418	IDH2	OMIM:613657
HP:0003215	Dicarboxylic aciduria	3417	IDH1	ORPHA:99646
HP:0003215	Dicarboxylic aciduria	2271	FH	OMIM:606812
HP:0003215	Dicarboxylic aciduria	6341	SCO1	OMIM:619048
HP:0003215	Dicarboxylic aciduria	6576	SLC25A1	OMIM:615182
HP:0003215	Dicarboxylic aciduria	64849	SLC13A3	OMIM:618384
HP:0003215	Dicarboxylic aciduria	763	CA5A	OMIM:615751
HP:0003215	Dicarboxylic aciduria	23417	MLYCD	OMIM:248360
HP:0003215	Dicarboxylic aciduria	3242	HPD	OMIM:140350
HP:0003215	Dicarboxylic aciduria	55526	DHTKD1	OMIM:204750
HP:0003215	Dicarboxylic aciduria	10841	FTCD	OMIM:229100
HP:0003215	Dicarboxylic aciduria	79944	L2HGDH	OMIM:236792
HP:0003215	Dicarboxylic aciduria	35	ACADS	ORPHA:26792
HP:0003215	Dicarboxylic aciduria	27247	NFU1	OMIM:605711
HP:0003215	Dicarboxylic aciduria	3954	LETM1	OMIM:620089
HP:0033459	Decreased circulating apolipoprotein concentration	335	APOA1	OMIM:619836
HP:0033459	Decreased circulating apolipoprotein concentration	19	ABCA1	OMIM:205400
HP:0033459	Decreased circulating apolipoprotein concentration	344	APOC2	OMIM:207750
HP:0033459	Decreased circulating apolipoprotein concentration	22948	CCT5	OMIM:256840
HP:0033460	Increased circulating apolipoprotein circulation	4023	LPL	OMIM:144250
HP:0033460	Increased circulating apolipoprotein circulation	19	ABCA1	OMIM:205400
HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	51241	COX16	OMIM:619355
HP:0033466	Weak grip	57863	CADM3	OMIM:619519
HP:0033476	Extractable nuclear antigen positivity	8651	SOCS1	OMIM:619375
HP:0033477	Abnormal circulating lipoprotein lipase concentration	23019	CNOT1	ORPHA:556955
HP:0033479	Abnormal circulating bilirubin concentration	4953	ODC1	OMIM:619075
HP:0033479	Abnormal circulating bilirubin concentration	229	ALDOB	OMIM:229600
HP:0033479	Abnormal circulating bilirubin concentration	54914	FOCAD	OMIM:619991
HP:0033479	Abnormal circulating bilirubin concentration	2936	GSR	OMIM:618660
HP:0033479	Abnormal circulating bilirubin concentration	6711	SPTBN1	OMIM:619475
HP:0033479	Abnormal circulating bilirubin concentration	222546	RFX6	OMIM:615710
HP:0033479	Abnormal circulating bilirubin concentration	100151683	RNU4ATAC	OMIM:210710
HP:0033479	Abnormal circulating bilirubin concentration	132	ADK	OMIM:614300
HP:0033479	Abnormal circulating bilirubin concentration	57539	WDR35	OMIM:613610
HP:0033479	Abnormal circulating bilirubin concentration	9420	CYP7B1	OMIM:613812
HP:0033479	Abnormal circulating bilirubin concentration	9420	CYP7B1	ORPHA:79302
HP:0033479	Abnormal circulating bilirubin concentration	23600	AMACR	OMIM:214950
HP:0033479	Abnormal circulating bilirubin concentration	286	ANK1	OMIM:182900
HP:0033479	Abnormal circulating bilirubin concentration	286	ANK1	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	2038	EPB42	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	7849	PAX8	OMIM:218700
HP:0033479	Abnormal circulating bilirubin concentration	5443	POMC	OMIM:609734
HP:0033479	Abnormal circulating bilirubin concentration	6573	SLC19A1	OMIM:601775
HP:0033479	Abnormal circulating bilirubin concentration	55610	VPS50	OMIM:619685
HP:0033479	Abnormal circulating bilirubin concentration	6514	SLC2A2	OMIM:227810
HP:0033479	Abnormal circulating bilirubin concentration	374879	ZNF699	OMIM:619488
HP:0033479	Abnormal circulating bilirubin concentration	5244	ABCB4	ORPHA:69665
HP:0033479	Abnormal circulating bilirubin concentration	3098	HK1	OMIM:235700
HP:0033479	Abnormal circulating bilirubin concentration	226	ALDOA	OMIM:611881
HP:0033479	Abnormal circulating bilirubin concentration	5015	OTX2	OMIM:613986
HP:0033479	Abnormal circulating bilirubin concentration	9338	TCEAL1	OMIM:301094
HP:0033479	Abnormal circulating bilirubin concentration	540	ATP7B	OMIM:277900
HP:0033479	Abnormal circulating bilirubin concentration	2271	FH	OMIM:606812
HP:0033479	Abnormal circulating bilirubin concentration	9968	MED12	OMIM:301068
HP:0033479	Abnormal circulating bilirubin concentration	9493	KIF23	ORPHA:98870
HP:0033479	Abnormal circulating bilirubin concentration	29127	RACGAP1	ORPHA:98870
HP:0033479	Abnormal circulating bilirubin concentration	55687	TRMU	OMIM:613070
HP:0033479	Abnormal circulating bilirubin concentration	3930	LBR	OMIM:613471
HP:0033479	Abnormal circulating bilirubin concentration	8260	NAA10	OMIM:300855
HP:0033479	Abnormal circulating bilirubin concentration	5824	PEX19	OMIM:614886
HP:0033479	Abnormal circulating bilirubin concentration	9451	EIF2AK3	ORPHA:1667
HP:0033479	Abnormal circulating bilirubin concentration	1716	DGUOK	OMIM:251880
HP:0033479	Abnormal circulating bilirubin concentration	28962	OSTM1	OMIM:259720
HP:0033479	Abnormal circulating bilirubin concentration	4547	MTTP	ORPHA:14
HP:0033479	Abnormal circulating bilirubin concentration	5825	ABCD3	OMIM:616278
HP:0033479	Abnormal circulating bilirubin concentration	146059	CDAN1	OMIM:224120
HP:0033479	Abnormal circulating bilirubin concentration	5230	PGK1	ORPHA:713
HP:0033479	Abnormal circulating bilirubin concentration	6006	RHCE	ORPHA:71275
HP:0033479	Abnormal circulating bilirubin concentration	6007	RHD	ORPHA:71275
HP:0033479	Abnormal circulating bilirubin concentration	6309	SC5D	OMIM:607330
HP:0033479	Abnormal circulating bilirubin concentration	1244	ABCC2	ORPHA:234
HP:0033479	Abnormal circulating bilirubin concentration	1244	ABCC2	OMIM:237500
HP:0033479	Abnormal circulating bilirubin concentration	80270	HSD3B7	OMIM:607765
HP:0033479	Abnormal circulating bilirubin concentration	3376	IARS1	OMIM:617093
HP:0033479	Abnormal circulating bilirubin concentration	8647	ABCB11	OMIM:601847
HP:0033479	Abnormal circulating bilirubin concentration	8647	ABCB11	OMIM:605479
HP:0033479	Abnormal circulating bilirubin concentration	79989	IFT56	OMIM:619534
HP:0033479	Abnormal circulating bilirubin concentration	51218	GLRX5	OMIM:616860
HP:0033479	Abnormal circulating bilirubin concentration	26503	SLC17A5	OMIM:269920
HP:0033479	Abnormal circulating bilirubin concentration	570	BAAT	OMIM:619232
HP:0033479	Abnormal circulating bilirubin concentration	7019	TFAM	OMIM:617156
HP:0033479	Abnormal circulating bilirubin concentration	11232	POLG2	OMIM:618528
HP:0033479	Abnormal circulating bilirubin concentration	5828	PEX2	OMIM:614866
HP:0033479	Abnormal circulating bilirubin concentration	5205	ATP8B1	OMIM:211600
HP:0033479	Abnormal circulating bilirubin concentration	5205	ATP8B1	OMIM:243300
HP:0033479	Abnormal circulating bilirubin concentration	5195	PEX14	OMIM:614887
HP:0033479	Abnormal circulating bilirubin concentration	6513	SLC2A1	ORPHA:168577
HP:0033479	Abnormal circulating bilirubin concentration	6513	SLC2A1	OMIM:608885
HP:0033479	Abnormal circulating bilirubin concentration	28234	SLCO1B3	OMIM:237450
HP:0033479	Abnormal circulating bilirubin concentration	28234	SLCO1B3	ORPHA:3111
HP:0033479	Abnormal circulating bilirubin concentration	10599	SLCO1B1	OMIM:237450
HP:0033479	Abnormal circulating bilirubin concentration	10599	SLCO1B1	ORPHA:3111
HP:0033479	Abnormal circulating bilirubin concentration	5314	PKHD1	ORPHA:53035
HP:0033479	Abnormal circulating bilirubin concentration	6718	AKR1D1	ORPHA:79303
HP:0033479	Abnormal circulating bilirubin concentration	10165	SLC25A13	OMIM:605814
HP:0033479	Abnormal circulating bilirubin concentration	197131	UBR1	OMIM:243800
HP:0033479	Abnormal circulating bilirubin concentration	3594	IL12RB1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	23534	TNPO3	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	3592	IL12A	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	6689	SPIB	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	5450	POU2AF1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	9966	TNFSF15	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	79258	MMEL1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	3663	IRF5	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	26276	VPS33B	OMIM:208085
HP:0033479	Abnormal circulating bilirubin concentration	26276	VPS33B	OMIM:620010
HP:0033479	Abnormal circulating bilirubin concentration	200931	SLC51A	OMIM:619484
HP:0033479	Abnormal circulating bilirubin concentration	113220	KIF12	OMIM:619662
HP:0033479	Abnormal circulating bilirubin concentration	9971	NR1H4	OMIM:617049
HP:0033479	Abnormal circulating bilirubin concentration	63894	VIPAS39	OMIM:613404
HP:0033479	Abnormal circulating bilirubin concentration	4645	MYO5B	OMIM:619868
HP:0033479	Abnormal circulating bilirubin concentration	2035	EPB41	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	2995	GYPC	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	6710	SPTB	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	6708	SPTA1	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	6708	SPTA1	OMIM:130600
HP:0033479	Abnormal circulating bilirubin concentration	3479	IGF1	ORPHA:73272
HP:0033479	Abnormal circulating bilirubin concentration	7355	SLC35A2	OMIM:300896
HP:0033479	Abnormal circulating bilirubin concentration	1371	CPOX	OMIM:618892
HP:0033479	Abnormal circulating bilirubin concentration	2876	GPX1	OMIM:614164
HP:0033479	Abnormal circulating bilirubin concentration	405753	DUOXA2	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	6528	SLC5A5	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	7038	TG	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	7173	TPO	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	389434	IYD	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	50506	DUOX2	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	7319	UBE2A	ORPHA:163956
HP:0033479	Abnormal circulating bilirubin concentration	5048	PAFAH1B1	ORPHA:95232
HP:0033479	Abnormal circulating bilirubin concentration	6521	SLC4A1	ORPHA:3202
HP:0033479	Abnormal circulating bilirubin concentration	9780	PIEZO1	ORPHA:3202
HP:0033479	Abnormal circulating bilirubin concentration	3783	KCNN4	ORPHA:3202
HP:0033479	Abnormal circulating bilirubin concentration	7253	TSHR	ORPHA:90673
HP:0033479	Abnormal circulating bilirubin concentration	7252	TSHB	ORPHA:90674
HP:0033479	Abnormal circulating bilirubin concentration	2203	FBP1	ORPHA:348
HP:0033479	Abnormal circulating bilirubin concentration	5551	PRF1	OMIM:603553
HP:0033479	Abnormal circulating bilirubin concentration	1376	CPT2	OMIM:608836
HP:0033479	Abnormal circulating bilirubin concentration	51601	LIPT1	OMIM:616299
HP:0033479	Abnormal circulating bilirubin concentration	5213	PFKM	OMIM:232800
HP:0033479	Abnormal circulating bilirubin concentration	11231	SEC63	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	5589	PRKCSH	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	5589	PRKCSH	OMIM:174050
HP:0033479	Abnormal circulating bilirubin concentration	4041	LRP5	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	51473	DCDC2	ORPHA:84081
HP:0033479	Abnormal circulating bilirubin concentration	91147	TMEM67	ORPHA:84081
HP:0033479	Abnormal circulating bilirubin concentration	5313	PKLR	OMIM:266200
HP:0033479	Abnormal circulating bilirubin concentration	5313	PKLR	ORPHA:766
HP:0033479	Abnormal circulating bilirubin concentration	3043	HBB	ORPHA:232
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	OMIM:218800
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	OMIM:606785
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	ORPHA:79234
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	ORPHA:79235
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	OMIM:143500
HP:0033479	Abnormal circulating bilirubin concentration	55532	SLC30A10	OMIM:613280
HP:0033479	Abnormal circulating bilirubin concentration	6554	SLC10A1	OMIM:619256
HP:0033479	Abnormal circulating bilirubin concentration	374354	NHLRC2	OMIM:618278
HP:0033479	Abnormal circulating bilirubin concentration	10661	KLF1	OMIM:613673
HP:0033479	Abnormal circulating bilirubin concentration	8573	CASK	OMIM:300908
HP:0033479	Abnormal circulating bilirubin concentration	2539	G6PD	OMIM:300908
HP:0033479	Abnormal circulating bilirubin concentration	6005	RHAG	OMIM:268150
HP:0033479	Abnormal circulating bilirubin concentration	10056	FARSB	OMIM:613658
HP:0033479	Abnormal circulating bilirubin concentration	7390	UROS	ORPHA:79277
HP:0033479	Abnormal circulating bilirubin concentration	2623	GATA1	ORPHA:79277
HP:0033479	Abnormal circulating bilirubin concentration	8085	KMT2D	OMIM:620186
HP:0033479	Abnormal circulating bilirubin concentration	5277	PIGA	ORPHA:447
HP:0033479	Abnormal circulating bilirubin concentration	8482	SEMA7A	OMIM:619874
HP:0033485	Glomerular basement membrane disruption	977	CD151	OMIM:609057
HP:0033493	Mesangial matrix expansion	81494	CFHR5	OMIM:614809
HP:0200000	Dysharmonic bone age	80152	CENPT	OMIM:618702
HP:0200000	Dysharmonic bone age	2146	EZH2	OMIM:277590
HP:0200005	Abnormal shape of the palpebral fissure	2972	BRF1	ORPHA:444072
HP:0200005	Abnormal shape of the palpebral fissure	668	FOXL2	ORPHA:572333
HP:0200005	Abnormal shape of the palpebral fissure	22827	PUF60	ORPHA:508498
HP:0200005	Abnormal shape of the palpebral fissure	6638	SNRPN	ORPHA:177904
HP:0200005	Abnormal shape of the palpebral fissure	6638	SNRPN	ORPHA:177901
HP:0200005	Abnormal shape of the palpebral fissure	6638	SNRPN	ORPHA:177907
HP:0200005	Abnormal shape of the palpebral fissure	6638	SNRPN	ORPHA:98754
HP:0200005	Abnormal shape of the palpebral fissure	4692	NDN	ORPHA:177904
HP:0200005	Abnormal shape of the palpebral fissure	4692	NDN	ORPHA:177901
HP:0200005	Abnormal shape of the palpebral fissure	4692	NDN	ORPHA:98754
HP:0200005	Abnormal shape of the palpebral fissure	54551	MAGEL2	ORPHA:177904
HP:0200005	Abnormal shape of the palpebral fissure	54551	MAGEL2	ORPHA:177901
HP:0200005	Abnormal shape of the palpebral fissure	54551	MAGEL2	ORPHA:398069
HP:0200005	Abnormal shape of the palpebral fissure	54551	MAGEL2	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	54551	MAGEL2	ORPHA:98754
HP:0200005	Abnormal shape of the palpebral fissure	4948	OCA2	ORPHA:177904
HP:0200005	Abnormal shape of the palpebral fissure	4948	OCA2	ORPHA:177901
HP:0200005	Abnormal shape of the palpebral fissure	4948	OCA2	ORPHA:98754
HP:0200005	Abnormal shape of the palpebral fissure	56992	KIF15	ORPHA:261323
HP:0200005	Abnormal shape of the palpebral fissure	50814	NSDHL	OMIM:300831
HP:0200005	Abnormal shape of the palpebral fissure	50814	NSDHL	ORPHA:251383
HP:0200005	Abnormal shape of the palpebral fissure	57003	CCDC47	OMIM:618268
HP:0200005	Abnormal shape of the palpebral fissure	1182	CLCN3	OMIM:619512
HP:0200005	Abnormal shape of the palpebral fissure	7468	NSD2	OMIM:619695
HP:0200005	Abnormal shape of the palpebral fissure	672	BRCA1	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	7516	XRCC2	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	29089	UBE2T	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	675	BRCA2	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	55120	FANCL	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2177	FANCD2	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2175	FANCA	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2187	FANCB	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2176	FANCC	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2178	FANCE	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2188	FANCF	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2189	FANCG	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	5888	RAD51	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	5889	RAD51C	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	55159	RFWD3	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	83990	BRIP1	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	57697	FANCM	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	79728	PALB2	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	84464	SLX4	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	2072	ERCC4	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	55215	FANCI	ORPHA:84
HP:0200005	Abnormal shape of the palpebral fissure	7681	MKRN3	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	3653	IPW	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	791114	PWRN1	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	100033413	SNORD116-1	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	8924	HERC2	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	145624	PWAR1	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	23742	NPAP1	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	338433	SNORD115-1	OMIM:176270
HP:0200005	Abnormal shape of the palpebral fissure	6045	RNF2	OMIM:619460
HP:0200005	Abnormal shape of the palpebral fissure	7319	UBE2A	OMIM:300860
HP:0200005	Abnormal shape of the palpebral fissure	55023	PHIP	ORPHA:589905
HP:0200005	Abnormal shape of the palpebral fissure	1105	CHD1	OMIM:617682
HP:0200005	Abnormal shape of the palpebral fissure	1105	CHD1	ORPHA:529965
HP:0200005	Abnormal shape of the palpebral fissure	10524	KAT5	OMIM:619103
HP:0200005	Abnormal shape of the palpebral fissure	6857	SYT1	ORPHA:522077
HP:0200005	Abnormal shape of the palpebral fissure	10300	KATNB1	OMIM:616212
HP:0200005	Abnormal shape of the palpebral fissure	5594	MAPK1	OMIM:619087
HP:0200005	Abnormal shape of the palpebral fissure	80173	IFT74	OMIM:619582
HP:0200005	Abnormal shape of the palpebral fissure	3188	HNRNPH2	OMIM:300986
HP:0200005	Abnormal shape of the palpebral fissure	6492	SIM1	ORPHA:171829
HP:0200005	Abnormal shape of the palpebral fissure	6492	SIM1	ORPHA:398079
HP:0200005	Abnormal shape of the palpebral fissure	84520	GON7	OMIM:619603
HP:0200005	Abnormal shape of the palpebral fissure	26057	ANKRD17	OMIM:619504
HP:0200005	Abnormal shape of the palpebral fissure	5373	PMM2	OMIM:212065
HP:0200005	Abnormal shape of the palpebral fissure	1759	DNM1	OMIM:620352
HP:0200005	Abnormal shape of the palpebral fissure	4010	LMX1B	ORPHA:495818
HP:0200005	Abnormal shape of the palpebral fissure	6812	STXBP1	ORPHA:495818
HP:0200005	Abnormal shape of the palpebral fissure	79813	EHMT1	ORPHA:261652
HP:0200005	Abnormal shape of the palpebral fissure	58508	KMT2C	ORPHA:261652
HP:0200006	Slanting of the palpebral fissure	1718	DHCR24	OMIM:602398
HP:0200006	Slanting of the palpebral fissure	1718	DHCR24	ORPHA:35107
HP:0200006	Slanting of the palpebral fissure	7528	YY1	ORPHA:506358
HP:0200006	Slanting of the palpebral fissure	7528	YY1	OMIM:617557
HP:0200006	Slanting of the palpebral fissure	8036	SHOC2	OMIM:607721
HP:0200006	Slanting of the palpebral fissure	11253	MAN1B1	ORPHA:397941
HP:0200006	Slanting of the palpebral fissure	11253	MAN1B1	OMIM:614202
HP:0200006	Slanting of the palpebral fissure	26235	FBXL4	OMIM:615471
HP:0200006	Slanting of the palpebral fissure	8367	H4C5	OMIM:619950
HP:0200006	Slanting of the palpebral fissure	340533	NEXMIF	OMIM:300912
HP:0200006	Slanting of the palpebral fissure	8294	H4C9	OMIM:619951
HP:0200006	Slanting of the palpebral fissure	1139	CHRNA7	ORPHA:199318
HP:0200006	Slanting of the palpebral fissure	8216	LZTR1	OMIM:616564
HP:0200006	Slanting of the palpebral fissure	8216	LZTR1	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	8216	LZTR1	OMIM:605275
HP:0200006	Slanting of the palpebral fissure	50651	SLC45A1	OMIM:617532
HP:0200006	Slanting of the palpebral fissure	23334	SZT2	OMIM:615476
HP:0200006	Slanting of the palpebral fissure	23334	SZT2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	6016	RIT1	OMIM:615355
HP:0200006	Slanting of the palpebral fissure	6016	RIT1	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	1947	EFNB1	ORPHA:1520
HP:0200006	Slanting of the palpebral fissure	1947	EFNB1	OMIM:304110
HP:0200006	Slanting of the palpebral fissure	51126	NAA20	OMIM:619717
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	OMIM:149730
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	OMIM:123790
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	OMIM:101200
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	OMIM:101600
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	ORPHA:87
HP:0200006	Slanting of the palpebral fissure	2263	FGFR2	ORPHA:1555
HP:0200006	Slanting of the palpebral fissure	55627	SMPD4	OMIM:618622
HP:0200006	Slanting of the palpebral fissure	81857	MED25	OMIM:616449
HP:0200006	Slanting of the palpebral fissure	81857	MED25	ORPHA:464738
HP:0200006	Slanting of the palpebral fissure	5077	PAX3	ORPHA:1529
HP:0200006	Slanting of the palpebral fissure	5077	PAX3	ORPHA:896
HP:0200006	Slanting of the palpebral fissure	5077	PAX3	OMIM:122880
HP:0200006	Slanting of the palpebral fissure	55209	SETD5	ORPHA:404440
HP:0200006	Slanting of the palpebral fissure	55209	SETD5	OMIM:615761
HP:0200006	Slanting of the palpebral fissure	10743	RAI1	ORPHA:477817
HP:0200006	Slanting of the palpebral fissure	10743	RAI1	ORPHA:1713
HP:0200006	Slanting of the palpebral fissure	116931	MED12L	OMIM:618872
HP:0200006	Slanting of the palpebral fissure	9578	CDC42BPB	OMIM:619841
HP:0200006	Slanting of the palpebral fissure	3020	H3-3A	OMIM:619720
HP:0200006	Slanting of the palpebral fissure	80816	ASXL3	OMIM:615485
HP:0200006	Slanting of the palpebral fissure	80816	ASXL3	ORPHA:352577
HP:0200006	Slanting of the palpebral fissure	55790	CSGALNACT1	OMIM:618870
HP:0200006	Slanting of the palpebral fissure	1723	DHODH	OMIM:263750
HP:0200006	Slanting of the palpebral fissure	1723	DHODH	ORPHA:246
HP:0200006	Slanting of the palpebral fissure	27245	AHDC1	ORPHA:412069
HP:0200006	Slanting of the palpebral fissure	27245	AHDC1	OMIM:615829
HP:0200006	Slanting of the palpebral fissure	55690	PACS1	OMIM:615009
HP:0200006	Slanting of the palpebral fissure	55690	PACS1	ORPHA:329224
HP:0200006	Slanting of the palpebral fissure	55904	KMT2E	OMIM:618512
HP:0200006	Slanting of the palpebral fissure	5728	PTEN	ORPHA:2969
HP:0200006	Slanting of the palpebral fissure	5728	PTEN	ORPHA:744
HP:0200006	Slanting of the palpebral fissure	5728	PTEN	ORPHA:79076
HP:0200006	Slanting of the palpebral fissure	23384	SPECC1L	ORPHA:1519
HP:0200006	Slanting of the palpebral fissure	23384	SPECC1L	OMIM:145420
HP:0200006	Slanting of the palpebral fissure	3190	HNRNPK	OMIM:616580
HP:0200006	Slanting of the palpebral fissure	2590	GALNT2	OMIM:618885
HP:0200006	Slanting of the palpebral fissure	54453	RIN2	OMIM:613075
HP:0200006	Slanting of the palpebral fissure	54453	RIN2	ORPHA:217335
HP:0200006	Slanting of the palpebral fissure	25885	POLR1A	OMIM:616462
HP:0200006	Slanting of the palpebral fissure	113189	CHST14	ORPHA:2953
HP:0200006	Slanting of the palpebral fissure	113189	CHST14	OMIM:601776
HP:0200006	Slanting of the palpebral fissure	29940	DSE	ORPHA:2953
HP:0200006	Slanting of the palpebral fissure	29940	DSE	OMIM:615539
HP:0200006	Slanting of the palpebral fissure	79029	AFG2B	OMIM:619616
HP:0200006	Slanting of the palpebral fissure	7021	TFAP2B	ORPHA:46627
HP:0200006	Slanting of the palpebral fissure	815	CAMK2A	OMIM:617798
HP:0200006	Slanting of the palpebral fissure	23545	ATP6V0A2	ORPHA:2834
HP:0200006	Slanting of the palpebral fissure	23545	ATP6V0A2	OMIM:278250
HP:0200006	Slanting of the palpebral fissure	23545	ATP6V0A2	OMIM:219200
HP:0200006	Slanting of the palpebral fissure	23545	ATP6V0A2	ORPHA:357074
HP:0200006	Slanting of the palpebral fissure	4853	NOTCH2	OMIM:102500
HP:0200006	Slanting of the palpebral fissure	4853	NOTCH2	ORPHA:955
HP:0200006	Slanting of the palpebral fissure	9968	MED12	ORPHA:93932
HP:0200006	Slanting of the palpebral fissure	9968	MED12	OMIM:305450
HP:0200006	Slanting of the palpebral fissure	9968	MED12	OMIM:300895
HP:0200006	Slanting of the palpebral fissure	10381	TUBB3	ORPHA:300570
HP:0200006	Slanting of the palpebral fissure	64359	NXN	ORPHA:1507
HP:0200006	Slanting of the palpebral fissure	4920	ROR2	ORPHA:1507
HP:0200006	Slanting of the palpebral fissure	4920	ROR2	OMIM:268310
HP:0200006	Slanting of the palpebral fissure	157680	VPS13B	OMIM:216550
HP:0200006	Slanting of the palpebral fissure	157680	VPS13B	ORPHA:193
HP:0200006	Slanting of the palpebral fissure	2626	GATA4	ORPHA:251071
HP:0200006	Slanting of the palpebral fissure	9401	RECQL4	OMIM:218600
HP:0200006	Slanting of the palpebral fissure	6872	TAF1	ORPHA:480907
HP:0200006	Slanting of the palpebral fissure	6872	TAF1	OMIM:300966
HP:0200006	Slanting of the palpebral fissure	1105	CHD1	OMIM:617682
HP:0200006	Slanting of the palpebral fissure	1105	CHD1	ORPHA:529965
HP:0200006	Slanting of the palpebral fissure	8726	EED	OMIM:617561
HP:0200006	Slanting of the palpebral fissure	8726	EED	ORPHA:3447
HP:0200006	Slanting of the palpebral fissure	10815	CPLX1	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	54872	PIGG	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	7469	NELFA	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	1487	CTBP1	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	3954	LETM1	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	7468	NSD2	ORPHA:280
HP:0200006	Slanting of the palpebral fissure	5159	PDGFRB	OMIM:616592
HP:0200006	Slanting of the palpebral fissure	4330	MN1	OMIM:618774
HP:0200006	Slanting of the palpebral fissure	1501	CTNND2	ORPHA:281
HP:0200006	Slanting of the palpebral fissure	9037	SEMA5A	ORPHA:281
HP:0200006	Slanting of the palpebral fissure	5528	PPP2R5D	OMIM:616355
HP:0200006	Slanting of the palpebral fissure	5528	PPP2R5D	ORPHA:457279
HP:0200006	Slanting of the palpebral fissure	56992	KIF15	OMIM:619981
HP:0200006	Slanting of the palpebral fissure	56992	KIF15	ORPHA:261323
HP:0200006	Slanting of the palpebral fissure	57178	ZMIZ1	OMIM:618659
HP:0200006	Slanting of the palpebral fissure	200734	SPRED2	OMIM:619745
HP:0200006	Slanting of the palpebral fissure	200734	SPRED2	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	3737	KCNA2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	1759	DNM1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	8120	AP3B2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	523	ATP6V1A	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	523	ATP6V1A	ORPHA:357074
HP:0200006	Slanting of the palpebral fissure	523	ATP6V1A	OMIM:617403
HP:0200006	Slanting of the palpebral fissure	10991	SLC38A3	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	51343	FZR1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	22906	TRAK1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2566	GABRG2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	1917	EEF1A2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	1917	EEF1A2	OMIM:616393
HP:0200006	Slanting of the palpebral fissure	2561	GABRB2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	8831	SYNGAP1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	7532	YWHAG	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	79876	UBA5	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	6328	SCN3A	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2558	GABRA5	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	781	CACNA2D1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2906	GRIN2D	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	116150	NUS1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	10659	CELF2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	774	CACNA1B	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	1213	CLTC	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	51741	WWOX	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	51412	ACTL6B	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	348980	HCN1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	6506	SLC1A2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	8867	SYNJ1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2258	FGF13	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	477	ATP1A2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	3745	KCNB1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	284111	SLC13A5	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	25977	NECAP1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	16	AARS1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	6334	SCN8A	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	22866	CNKSR2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	9568	GABBR2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2555	GABRA2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	55152	DALRD3	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	773	CACNA1A	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	26999	CYFIP2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	4915	NTRK2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	25973	PARS2	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	23097	CDK19	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	64801	ARV1	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	79947	DHDDS	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	2257	FGF12	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	5530	PPP3CA	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	478	ATP1A3	ORPHA:442835
HP:0200006	Slanting of the palpebral fissure	55623	THUMPD1	OMIM:619989
HP:0200006	Slanting of the palpebral fissure	10716	TBR1	ORPHA:1617
HP:0200006	Slanting of the palpebral fissure	4247	MGAT2	OMIM:212066
HP:0200006	Slanting of the palpebral fissure	4247	MGAT2	ORPHA:79329
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	ORPHA:90650
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	ORPHA:90652
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	OMIM:304120
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	ORPHA:1826
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	OMIM:311300
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	OMIM:305620
HP:0200006	Slanting of the palpebral fissure	2316	FLNA	OMIM:300048
HP:0200006	Slanting of the palpebral fissure	3476	IGBP1	ORPHA:52055
HP:0200006	Slanting of the palpebral fissure	3476	IGBP1	OMIM:300472
HP:0200006	Slanting of the palpebral fissure	92482	BBIP1	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	80184	CEP290	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	11020	IFT27	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	582	BBS1	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	49855	SCAPER	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	4867	NPHP1	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	51057	WDPCP	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	27241	BBS9	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	84984	CEP19	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	22954	TRIM32	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	54903	MKS1	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	79738	BBS10	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	123016	TTC8	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	26160	IFT172	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	583	BBS2	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	585	BBS4	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	8195	MKKS	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	54585	LZTFL1	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	55212	BBS7	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	166379	BBS12	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	10806	SDCCAG8	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	157657	CFAP418	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	84100	ARL6	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	129880	BBS5	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	80173	IFT74	ORPHA:110
HP:0200006	Slanting of the palpebral fissure	5518	PPP2R1A	OMIM:616362
HP:0200006	Slanting of the palpebral fissure	253738	EBF3	OMIM:617330
HP:0200006	Slanting of the palpebral fissure	23312	DMXL2	OMIM:618663
HP:0200006	Slanting of the palpebral fissure	1182	CLCN3	OMIM:619512
HP:0200006	Slanting of the palpebral fissure	23512	SUZ12	OMIM:618786
HP:0200006	Slanting of the palpebral fissure	23512	SUZ12	ORPHA:3447
HP:0200006	Slanting of the palpebral fissure	3590	IL11RA	OMIM:614188
HP:0200006	Slanting of the palpebral fissure	7862	BRPF1	OMIM:617333
HP:0200006	Slanting of the palpebral fissure	23126	POGZ	OMIM:616364
HP:0200006	Slanting of the palpebral fissure	57680	CHD8	OMIM:615032
HP:0200006	Slanting of the palpebral fissure	23461	ABCA5	OMIM:135400
HP:0200006	Slanting of the palpebral fissure	8558	CDK10	OMIM:617694
HP:0200006	Slanting of the palpebral fissure	51633	OTUD6B	OMIM:617452
HP:0200006	Slanting of the palpebral fissure	51633	OTUD6B	ORPHA:505237
HP:0200006	Slanting of the palpebral fissure	3572	IL6ST	OMIM:619750
HP:0200006	Slanting of the palpebral fissure	5048	PAFAH1B1	ORPHA:217385
HP:0200006	Slanting of the palpebral fissure	7531	YWHAE	ORPHA:217385
HP:0200006	Slanting of the palpebral fissure	6899	TBX1	ORPHA:1727
HP:0200006	Slanting of the palpebral fissure	6899	TBX1	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	145258	GSC	OMIM:602471
HP:0200006	Slanting of the palpebral fissure	85365	ALG2	ORPHA:79326
HP:0200006	Slanting of the palpebral fissure	26137	ZBTB20	OMIM:259050
HP:0200006	Slanting of the palpebral fissure	26137	ZBTB20	ORPHA:3042
HP:0200006	Slanting of the palpebral fissure	8314	BAP1	OMIM:619762
HP:0200006	Slanting of the palpebral fissure	7750	ZMYM2	OMIM:619522
HP:0200006	Slanting of the palpebral fissure	27086	FOXP1	ORPHA:391372
HP:0200006	Slanting of the palpebral fissure	27086	FOXP1	OMIM:613670
HP:0200006	Slanting of the palpebral fissure	53335	BCL11A	OMIM:617101
HP:0200006	Slanting of the palpebral fissure	9158	FIBP	OMIM:617107
HP:0200006	Slanting of the palpebral fissure	9158	FIBP	ORPHA:500095
HP:0200006	Slanting of the palpebral fissure	4621	MYH3	OMIM:618436
HP:0200006	Slanting of the palpebral fissure	4621	MYH3	OMIM:178110
HP:0200006	Slanting of the palpebral fissure	4621	MYH3	ORPHA:2053
HP:0200006	Slanting of the palpebral fissure	4621	MYH3	ORPHA:2990
HP:0200006	Slanting of the palpebral fissure	57492	ARID1B	ORPHA:251056
HP:0200006	Slanting of the palpebral fissure	57492	ARID1B	OMIM:135900
HP:0200006	Slanting of the palpebral fissure	57688	ZSWIM6	OMIM:603671
HP:0200006	Slanting of the palpebral fissure	7030	TFE3	OMIM:301066
HP:0200006	Slanting of the palpebral fissure	2239	GPC4	ORPHA:373
HP:0200006	Slanting of the palpebral fissure	2239	GPC4	OMIM:312870
HP:0200006	Slanting of the palpebral fissure	2719	GPC3	ORPHA:373
HP:0200006	Slanting of the palpebral fissure	2719	GPC3	OMIM:312870
HP:0200006	Slanting of the palpebral fissure	259232	NALCN	OMIM:616266
HP:0200006	Slanting of the palpebral fissure	259232	NALCN	ORPHA:2053
HP:0200006	Slanting of the palpebral fissure	259232	NALCN	ORPHA:371364
HP:0200006	Slanting of the palpebral fissure	57479	PRR12	OMIM:619539
HP:0200006	Slanting of the palpebral fissure	2260	FGFR1	OMIM:166250
HP:0200006	Slanting of the palpebral fissure	2260	FGFR1	OMIM:101600
HP:0200006	Slanting of the palpebral fissure	2260	FGFR1	ORPHA:2117
HP:0200006	Slanting of the palpebral fissure	4052	LTBP1	ORPHA:90349
HP:0200006	Slanting of the palpebral fissure	4052	LTBP1	OMIM:619451
HP:0200006	Slanting of the palpebral fissure	30008	EFEMP2	ORPHA:90349
HP:0200006	Slanting of the palpebral fissure	30008	EFEMP2	OMIM:614437
HP:0200006	Slanting of the palpebral fissure	10516	FBLN5	ORPHA:90349
HP:0200006	Slanting of the palpebral fissure	6885	MAP3K7	ORPHA:1826
HP:0200006	Slanting of the palpebral fissure	6885	MAP3K7	OMIM:617137
HP:0200006	Slanting of the palpebral fissure	8813	DPM1	ORPHA:79322
HP:0200006	Slanting of the palpebral fissure	8813	DPM1	OMIM:608799
HP:0200006	Slanting of the palpebral fissure	10262	SF3B4	ORPHA:245
HP:0200006	Slanting of the palpebral fissure	10262	SF3B4	OMIM:154400
HP:0200006	Slanting of the palpebral fissure	6595	SMARCA2	OMIM:601358
HP:0200006	Slanting of the palpebral fissure	6595	SMARCA2	ORPHA:3051
HP:0200006	Slanting of the palpebral fissure	91252	SLC39A13	ORPHA:157965
HP:0200006	Slanting of the palpebral fissure	91252	SLC39A13	OMIM:612350
HP:0200006	Slanting of the palpebral fissure	117581	TWIST2	ORPHA:1807
HP:0200006	Slanting of the palpebral fissure	1387	CREBBP	OMIM:618332
HP:0200006	Slanting of the palpebral fissure	1387	CREBBP	OMIM:180849
HP:0200006	Slanting of the palpebral fissure	1387	CREBBP	ORPHA:353277
HP:0200006	Slanting of the palpebral fissure	6261	RYR1	OMIM:619542
HP:0200006	Slanting of the palpebral fissure	9533	POLR1C	OMIM:248390
HP:0200006	Slanting of the palpebral fissure	9533	POLR1C	ORPHA:861
HP:0200006	Slanting of the palpebral fissure	6654	SOS1	OMIM:610733
HP:0200006	Slanting of the palpebral fissure	6654	SOS1	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	1801	DPH1	ORPHA:459061
HP:0200006	Slanting of the palpebral fissure	1801	DPH1	OMIM:616901
HP:0200006	Slanting of the palpebral fissure	389827	MYMK	OMIM:254940
HP:0200006	Slanting of the palpebral fissure	389827	MYMK	ORPHA:1358
HP:0200006	Slanting of the palpebral fissure	5813	PURA	ORPHA:314655
HP:0200006	Slanting of the palpebral fissure	9949	AMMECR1	OMIM:300990
HP:0200006	Slanting of the palpebral fissure	9949	AMMECR1	ORPHA:86818
HP:0200006	Slanting of the palpebral fissure	2737	GLI3	ORPHA:672
HP:0200006	Slanting of the palpebral fissure	2737	GLI3	OMIM:175700
HP:0200006	Slanting of the palpebral fissure	8925	HERC1	OMIM:617011
HP:0200006	Slanting of the palpebral fissure	8925	HERC1	ORPHA:457359
HP:0200006	Slanting of the palpebral fissure	23013	SPEN	OMIM:619312
HP:0200006	Slanting of the palpebral fissure	5351	PLOD1	OMIM:225400
HP:0200006	Slanting of the palpebral fissure	56896	DPYSL5	OMIM:619435
HP:0200006	Slanting of the palpebral fissure	6477	SIAH1	OMIM:619314
HP:0200006	Slanting of the palpebral fissure	4598	MVK	ORPHA:29
HP:0200006	Slanting of the palpebral fissure	4598	MVK	OMIM:610377
HP:0200006	Slanting of the palpebral fissure	54517	PUS7	OMIM:618342
HP:0200006	Slanting of the palpebral fissure	10765	KDM5B	OMIM:618109
HP:0200006	Slanting of the palpebral fissure	8573	CASK	OMIM:300749
HP:0200006	Slanting of the palpebral fissure	23314	SATB2	ORPHA:251028
HP:0200006	Slanting of the palpebral fissure	23314	SATB2	ORPHA:251019
HP:0200006	Slanting of the palpebral fissure	23314	SATB2	OMIM:612313
HP:0200006	Slanting of the palpebral fissure	5396	PRRX1	OMIM:202650
HP:0200006	Slanting of the palpebral fissure	6418	SET	OMIM:618106
HP:0200006	Slanting of the palpebral fissure	2200	FBN1	ORPHA:284979
HP:0200006	Slanting of the palpebral fissure	2200	FBN1	OMIM:616914
HP:0200006	Slanting of the palpebral fissure	2200	FBN1	ORPHA:2462
HP:0200006	Slanting of the palpebral fissure	2200	FBN1	OMIM:154700
HP:0200006	Slanting of the palpebral fissure	27125	AFF4	ORPHA:444077
HP:0200006	Slanting of the palpebral fissure	55315	SLC29A3	OMIM:602782
HP:0200006	Slanting of the palpebral fissure	7372	UMPS	ORPHA:30
HP:0200006	Slanting of the palpebral fissure	7707	ZNF148	OMIM:617260
HP:0200006	Slanting of the palpebral fissure	91754	NEK9	OMIM:617022
HP:0200006	Slanting of the palpebral fissure	650	BMP2	ORPHA:261295
HP:0200006	Slanting of the palpebral fissure	650	BMP2	OMIM:617877
HP:0200006	Slanting of the palpebral fissure	9871	SEC24D	OMIM:616294
HP:0200006	Slanting of the palpebral fissure	9871	SEC24D	ORPHA:2050
HP:0200006	Slanting of the palpebral fissure	29998	BICRA	OMIM:619325
HP:0200006	Slanting of the palpebral fissure	6651	SON	OMIM:617140
HP:0200006	Slanting of the palpebral fissure	6651	SON	ORPHA:500150
HP:0200006	Slanting of the palpebral fissure	9342	SNAP29	ORPHA:66631
HP:0200006	Slanting of the palpebral fissure	9342	SNAP29	OMIM:609528
HP:0200006	Slanting of the palpebral fissure	2033	EP300	ORPHA:353284
HP:0200006	Slanting of the palpebral fissure	2033	EP300	OMIM:180849
HP:0200006	Slanting of the palpebral fissure	2033	EP300	OMIM:613684
HP:0200006	Slanting of the palpebral fissure	1289	COL5A1	OMIM:619329
HP:0200006	Slanting of the palpebral fissure	3417	IDH1	ORPHA:99646
HP:0200006	Slanting of the palpebral fissure	56975	FAM20C	OMIM:259775
HP:0200006	Slanting of the palpebral fissure	4763	NF1	OMIM:601321
HP:0200006	Slanting of the palpebral fissure	4763	NF1	ORPHA:97685
HP:0200006	Slanting of the palpebral fissure	4763	NF1	ORPHA:638
HP:0200006	Slanting of the palpebral fissure	83999	KREMEN1	OMIM:617392
HP:0200006	Slanting of the palpebral fissure	3039	HBA1	ORPHA:98791
HP:0200006	Slanting of the palpebral fissure	3040	HBA2	ORPHA:98791
HP:0200006	Slanting of the palpebral fissure	51132	RLIM	OMIM:300978
HP:0200006	Slanting of the palpebral fissure	8260	NAA10	OMIM:300855
HP:0200006	Slanting of the palpebral fissure	8260	NAA10	ORPHA:276432
HP:0200006	Slanting of the palpebral fissure	5831	PYCR1	OMIM:612940
HP:0200006	Slanting of the palpebral fissure	201163	FLCN	OMIM:610883
HP:0200006	Slanting of the palpebral fissure	29920	PYCR2	ORPHA:481152
HP:0200006	Slanting of the palpebral fissure	29920	PYCR2	OMIM:616420
HP:0200006	Slanting of the palpebral fissure	92344	GORAB	OMIM:231070
HP:0200006	Slanting of the palpebral fissure	1312	COMT	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	221037	JMJD1C	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	2812	GP1BB	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	6239	RREB1	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	7290	HIRA	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	9632	SEC24C	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	7353	UFD1	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	421	ARVCF	ORPHA:567
HP:0200006	Slanting of the palpebral fissure	7136	TNNI2	OMIM:601680
HP:0200006	Slanting of the palpebral fissure	1009	CDH11	OMIM:211380
HP:0200006	Slanting of the palpebral fissure	1009	CDH11	ORPHA:1299
HP:0200006	Slanting of the palpebral fissure	444	ASPH	OMIM:601552
HP:0200006	Slanting of the palpebral fissure	7703	PCGF2	OMIM:618371
HP:0200006	Slanting of the palpebral fissure	23111	SPART	ORPHA:101000
HP:0200006	Slanting of the palpebral fissure	25942	SIN3A	ORPHA:94065
HP:0200006	Slanting of the palpebral fissure	25942	SIN3A	OMIM:613406
HP:0200006	Slanting of the palpebral fissure	9509	ADAMTS2	OMIM:225410
HP:0200006	Slanting of the palpebral fissure	10524	KAT5	OMIM:619103
HP:0200006	Slanting of the palpebral fissure	372	ARCN1	OMIM:617164
HP:0200006	Slanting of the palpebral fissure	633	BGN	OMIM:300989
HP:0200006	Slanting of the palpebral fissure	22808	MRAS	OMIM:618499
HP:0200006	Slanting of the palpebral fissure	22808	MRAS	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	26040	SETBP1	OMIM:616078
HP:0200006	Slanting of the palpebral fissure	2475	MTOR	ORPHA:457485
HP:0200006	Slanting of the palpebral fissure	2475	MTOR	OMIM:616638
HP:0200006	Slanting of the palpebral fissure	6304	SATB1	OMIM:619229
HP:0200006	Slanting of the palpebral fissure	9343	EFTUD2	OMIM:610536
HP:0200006	Slanting of the palpebral fissure	23594	ORC6	OMIM:613803
HP:0200006	Slanting of the palpebral fissure	7291	TWIST1	OMIM:180750
HP:0200006	Slanting of the palpebral fissure	5913	RAPSN	OMIM:618388
HP:0200006	Slanting of the palpebral fissure	2290	FOXG1	ORPHA:261144
HP:0200006	Slanting of the palpebral fissure	285489	DOK7	OMIM:618389
HP:0200006	Slanting of the palpebral fissure	134218	DNAJC21	OMIM:617052
HP:0200006	Slanting of the palpebral fissure	5977	DPF2	OMIM:618027
HP:0200006	Slanting of the palpebral fissure	79005	SCNM1	OMIM:620107
HP:0200006	Slanting of the palpebral fissure	285590	SH3PXD2B	ORPHA:137834
HP:0200006	Slanting of the palpebral fissure	285590	SH3PXD2B	OMIM:249420
HP:0200006	Slanting of the palpebral fissure	10283	CWC27	OMIM:250410
HP:0200006	Slanting of the palpebral fissure	10283	CWC27	ORPHA:166035
HP:0200006	Slanting of the palpebral fissure	246329	STAC3	ORPHA:168572
HP:0200006	Slanting of the palpebral fissure	246329	STAC3	OMIM:255995
HP:0200006	Slanting of the palpebral fissure	207	AKT1	ORPHA:744
HP:0200006	Slanting of the palpebral fissure	207	AKT1	OMIM:176920
HP:0200006	Slanting of the palpebral fissure	11198	SUPT16H	OMIM:619480
HP:0200006	Slanting of the palpebral fissure	84172	POLR1B	ORPHA:861
HP:0200006	Slanting of the palpebral fissure	84172	POLR1B	OMIM:618939
HP:0200006	Slanting of the palpebral fissure	51082	POLR1D	ORPHA:861
HP:0200006	Slanting of the palpebral fissure	51082	POLR1D	OMIM:613717
HP:0200006	Slanting of the palpebral fissure	6949	TCOF1	ORPHA:861
HP:0200006	Slanting of the palpebral fissure	6949	TCOF1	OMIM:154500
HP:0200006	Slanting of the palpebral fissure	7204	TRIO	OMIM:617061
HP:0200006	Slanting of the palpebral fissure	7204	TRIO	OMIM:618825
HP:0200006	Slanting of the palpebral fissure	5290	PIK3CA	OMIM:602501
HP:0200006	Slanting of the palpebral fissure	2571	GAD1	OMIM:619124
HP:0200006	Slanting of the palpebral fissure	23067	SETD1B	OMIM:619000
HP:0200006	Slanting of the palpebral fissure	23112	TNRC6B	OMIM:619243
HP:0200006	Slanting of the palpebral fissure	8450	CUL4B	ORPHA:85293
HP:0200006	Slanting of the palpebral fissure	64093	SMOC1	OMIM:206920
HP:0200006	Slanting of the palpebral fissure	22995	CEP152	OMIM:613823
HP:0200006	Slanting of the palpebral fissure	22995	CEP152	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	93587	TRMT10A	ORPHA:391408
HP:0200006	Slanting of the palpebral fissure	84919	PPP1R15B	ORPHA:391408
HP:0200006	Slanting of the palpebral fissure	84919	PPP1R15B	OMIM:616817
HP:0200006	Slanting of the palpebral fissure	673	BRAF	OMIM:613707
HP:0200006	Slanting of the palpebral fissure	673	BRAF	OMIM:613706
HP:0200006	Slanting of the palpebral fissure	673	BRAF	OMIM:115150
HP:0200006	Slanting of the palpebral fissure	673	BRAF	ORPHA:1340
HP:0200006	Slanting of the palpebral fissure	673	BRAF	OMIM:163950
HP:0200006	Slanting of the palpebral fissure	80267	EDEM3	OMIM:619493
HP:0200006	Slanting of the palpebral fissure	57020	VPS35L	OMIM:619135
HP:0200006	Slanting of the palpebral fissure	4781	NFIB	OMIM:618286
HP:0200006	Slanting of the palpebral fissure	1984	EIF5A	OMIM:619376
HP:0200006	Slanting of the palpebral fissure	2733	GLE1	OMIM:611890
HP:0200006	Slanting of the palpebral fissure	8481	OFD1	OMIM:300804
HP:0200006	Slanting of the palpebral fissure	8481	OFD1	OMIM:311200
HP:0200006	Slanting of the palpebral fissure	8481	OFD1	ORPHA:2750
HP:0200006	Slanting of the palpebral fissure	22800	RRAS2	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	867	CBL	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	867	CBL	OMIM:613563
HP:0200006	Slanting of the palpebral fissure	6237	RRAS	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	5894	RAF1	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	5894	RAF1	OMIM:611554
HP:0200006	Slanting of the palpebral fissure	5894	RAF1	OMIM:611553
HP:0200006	Slanting of the palpebral fissure	3845	KRAS	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	3845	KRAS	ORPHA:1340
HP:0200006	Slanting of the palpebral fissure	3845	KRAS	OMIM:609942
HP:0200006	Slanting of the palpebral fissure	4893	NRAS	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	4893	NRAS	OMIM:613224
HP:0200006	Slanting of the palpebral fissure	6655	SOS2	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	6655	SOS2	OMIM:616559
HP:0200006	Slanting of the palpebral fissure	5781	PTPN11	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	5781	PTPN11	OMIM:163950
HP:0200006	Slanting of the palpebral fissure	5922	RASA2	ORPHA:648
HP:0200006	Slanting of the palpebral fissure	84081	NSRP1	OMIM:620001
HP:0200006	Slanting of the palpebral fissure	7474	WNT5A	OMIM:180700
HP:0200006	Slanting of the palpebral fissure	7474	WNT5A	ORPHA:3107
HP:0200006	Slanting of the palpebral fissure	1855	DVL1	OMIM:180700
HP:0200006	Slanting of the palpebral fissure	1855	DVL1	ORPHA:3107
HP:0200006	Slanting of the palpebral fissure	5727	PTCH1	ORPHA:77301
HP:0200006	Slanting of the palpebral fissure	9897	WASHC5	ORPHA:7
HP:0200006	Slanting of the palpebral fissure	9897	WASHC5	OMIM:220210
HP:0200006	Slanting of the palpebral fissure	28952	CCDC22	ORPHA:7
HP:0200006	Slanting of the palpebral fissure	1795	DOCK3	OMIM:618292
HP:0200006	Slanting of the palpebral fissure	51626	DYNC2LI1	OMIM:617088
HP:0200006	Slanting of the palpebral fissure	80704	SLC19A3	ORPHA:263410
HP:0200006	Slanting of the palpebral fissure	90121	TSR2	OMIM:300946
HP:0200006	Slanting of the palpebral fissure	2261	FGFR3	OMIM:602849
HP:0200006	Slanting of the palpebral fissure	51109	RDH11	ORPHA:436245
HP:0200006	Slanting of the palpebral fissure	7042	TGFB2	OMIM:614816
HP:0200006	Slanting of the palpebral fissure	5605	MAP2K2	ORPHA:638
HP:0200006	Slanting of the palpebral fissure	5605	MAP2K2	ORPHA:1340
HP:0200006	Slanting of the palpebral fissure	8243	SMC1A	OMIM:300590
HP:0200006	Slanting of the palpebral fissure	8243	SMC1A	OMIM:301044
HP:0200006	Slanting of the palpebral fissure	7337	UBE3A	ORPHA:238446
HP:0200006	Slanting of the palpebral fissure	54084	TSPEAR	OMIM:618180
HP:0200006	Slanting of the palpebral fissure	324	APC	ORPHA:261584
HP:0200006	Slanting of the palpebral fissure	324	APC	ORPHA:3258
HP:0200006	Slanting of the palpebral fissure	6309	SC5D	ORPHA:46059
HP:0200006	Slanting of the palpebral fissure	6309	SC5D	OMIM:607330
HP:0200006	Slanting of the palpebral fissure	1183	CLCN4	OMIM:300114
HP:0200006	Slanting of the palpebral fissure	5034	P4HB	ORPHA:2050
HP:0200006	Slanting of the palpebral fissure	23241	PACS2	OMIM:618067
HP:0200006	Slanting of the palpebral fissure	26128	KIFBP	OMIM:609460
HP:0200006	Slanting of the palpebral fissure	161742	SPRED1	OMIM:611431
HP:0200006	Slanting of the palpebral fissure	84282	RNF135	ORPHA:137634
HP:0200006	Slanting of the palpebral fissure	8854	ALDH1A2	OMIM:620025
HP:0200006	Slanting of the palpebral fissure	9839	ZEB2	OMIM:235730
HP:0200006	Slanting of the palpebral fissure	1299	COL9A3	OMIM:620022
HP:0200006	Slanting of the palpebral fissure	64324	NSD1	ORPHA:821
HP:0200006	Slanting of the palpebral fissure	64324	NSD1	OMIM:117550
HP:0200006	Slanting of the palpebral fissure	64324	NSD1	ORPHA:3447
HP:0200006	Slanting of the palpebral fissure	29072	SETD2	ORPHA:821
HP:0200006	Slanting of the palpebral fissure	29072	SETD2	OMIM:620157
HP:0200006	Slanting of the palpebral fissure	29072	SETD2	OMIM:620155
HP:0200006	Slanting of the palpebral fissure	29072	SETD2	OMIM:616831
HP:0200006	Slanting of the palpebral fissure	10297	APC2	ORPHA:821
HP:0200006	Slanting of the palpebral fissure	4784	NFIX	ORPHA:447980
HP:0200006	Slanting of the palpebral fissure	4784	NFIX	ORPHA:420179
HP:0200006	Slanting of the palpebral fissure	4784	NFIX	OMIM:614753
HP:0200006	Slanting of the palpebral fissure	374654	KIF7	OMIM:200990
HP:0200006	Slanting of the palpebral fissure	1717	DHCR7	ORPHA:818
HP:0200006	Slanting of the palpebral fissure	23431	AP4E1	OMIM:613744
HP:0200006	Slanting of the palpebral fissure	25782	RAB3GAP2	OMIM:212720
HP:0200006	Slanting of the palpebral fissure	5818	NECTIN1	ORPHA:3253
HP:0200006	Slanting of the palpebral fissure	150468	CKAP2L	ORPHA:3255
HP:0200006	Slanting of the palpebral fissure	271	AMPD2	OMIM:615809
HP:0200006	Slanting of the palpebral fissure	9382	COG1	OMIM:611209
HP:0200006	Slanting of the palpebral fissure	9382	COG1	ORPHA:263508
HP:0200006	Slanting of the palpebral fissure	4038	LRP4	ORPHA:3258
HP:0200006	Slanting of the palpebral fissure	4038	LRP4	OMIM:212780
HP:0200006	Slanting of the palpebral fissure	6197	RPS6KA3	OMIM:303600
HP:0200006	Slanting of the palpebral fissure	6197	RPS6KA3	ORPHA:276630
HP:0200006	Slanting of the palpebral fissure	6197	RPS6KA3	ORPHA:192
HP:0200006	Slanting of the palpebral fissure	1146	CHRNG	OMIM:265000
HP:0200006	Slanting of the palpebral fissure	1146	CHRNG	ORPHA:2990
HP:0200006	Slanting of the palpebral fissure	9739	SETD1A	OMIM:619056
HP:0200006	Slanting of the palpebral fissure	80204	FBXO11	OMIM:618089
HP:0200006	Slanting of the palpebral fissure	23522	KAT6B	OMIM:606170
HP:0200006	Slanting of the palpebral fissure	9184	BUB3	ORPHA:1052
HP:0200006	Slanting of the palpebral fissure	699	BUB1	ORPHA:1052
HP:0200006	Slanting of the palpebral fissure	9702	CEP57	ORPHA:1052
HP:0200006	Slanting of the palpebral fissure	9702	CEP57	OMIM:614114
HP:0200006	Slanting of the palpebral fissure	9319	TRIP13	ORPHA:1052
HP:0200006	Slanting of the palpebral fissure	701	BUB1B	ORPHA:1052
HP:0200006	Slanting of the palpebral fissure	55148	UBR7	OMIM:619189
HP:0200006	Slanting of the palpebral fissure	10682	EBP	ORPHA:35173
HP:0200006	Slanting of the palpebral fissure	10682	EBP	OMIM:302960
HP:0200006	Slanting of the palpebral fissure	55636	CHD7	OMIM:214800
HP:0200006	Slanting of the palpebral fissure	4036	LRP2	ORPHA:2143
HP:0200006	Slanting of the palpebral fissure	4036	LRP2	OMIM:222448
HP:0200006	Slanting of the palpebral fissure	1301	COL11A1	ORPHA:2021
HP:0200006	Slanting of the palpebral fissure	1302	COL11A2	ORPHA:2021
HP:0200006	Slanting of the palpebral fissure	657	BMPR1A	ORPHA:79076
HP:0200006	Slanting of the palpebral fissure	526	ATP6V1B2	ORPHA:3473
HP:0200006	Slanting of the palpebral fissure	3756	KCNH1	ORPHA:3473
HP:0200006	Slanting of the palpebral fissure	3782	KCNN3	ORPHA:3473
HP:0200006	Slanting of the palpebral fissure	3265	HRAS	OMIM:218040
HP:0200006	Slanting of the palpebral fissure	2697	GJA1	OMIM:257850
HP:0200006	Slanting of the palpebral fissure	6234	RPS28	OMIM:606164
HP:0200006	Slanting of the palpebral fissure	4953	ODC1	OMIM:619075
HP:0200006	Slanting of the palpebral fissure	4953	ODC1	ORPHA:544488
HP:0200006	Slanting of the palpebral fissure	197257	LDHD	OMIM:245450
HP:0200006	Slanting of the palpebral fissure	1857	DVL3	ORPHA:3107
HP:0200006	Slanting of the palpebral fissure	2535	FZD2	ORPHA:3107
HP:0200006	Slanting of the palpebral fissure	6660	SOX5	OMIM:616803
HP:0200006	Slanting of the palpebral fissure	26053	AUTS2	OMIM:615834
HP:0200006	Slanting of the palpebral fissure	8239	USP9X	ORPHA:480880
HP:0200006	Slanting of the palpebral fissure	285175	UNC80	OMIM:616801
HP:0200006	Slanting of the palpebral fissure	285175	UNC80	ORPHA:371364
HP:0200006	Slanting of the palpebral fissure	11128	POLR3A	OMIM:264090
HP:0200006	Slanting of the palpebral fissure	8085	KMT2D	OMIM:620186
HP:0200006	Slanting of the palpebral fissure	55719	SLF2	OMIM:620184
HP:0200006	Slanting of the palpebral fissure	55027	HEATR3	OMIM:620072
HP:0200006	Slanting of the palpebral fissure	283209	PGM2L1	OMIM:620191
HP:0200006	Slanting of the palpebral fissure	78989	COLEC11	OMIM:265050
HP:0200006	Slanting of the palpebral fissure	78989	COLEC11	ORPHA:293843
HP:0200006	Slanting of the palpebral fissure	4094	MAF	ORPHA:1272
HP:0200006	Slanting of the palpebral fissure	4094	MAF	OMIM:601088
HP:0200006	Slanting of the palpebral fissure	5594	MAPK1	OMIM:619087
HP:0200006	Slanting of the palpebral fissure	23261	CAMTA1	OMIM:614756
HP:0200006	Slanting of the palpebral fissure	54499	TMCO1	ORPHA:1394
HP:0200006	Slanting of the palpebral fissure	10430	TMEM147	OMIM:620075
HP:0200006	Slanting of the palpebral fissure	3187	HNRNPH1	OMIM:620083
HP:0200006	Slanting of the palpebral fissure	51322	WAC	ORPHA:284169
HP:0200006	Slanting of the palpebral fissure	81031	SLC2A10	OMIM:208050
HP:0200006	Slanting of the palpebral fissure	9652	SKIC3	OMIM:222470
HP:0200006	Slanting of the palpebral fissure	8504	PEX3	OMIM:614882
HP:0200006	Slanting of the palpebral fissure	2146	EZH2	OMIM:277590
HP:0200006	Slanting of the palpebral fissure	2146	EZH2	ORPHA:3447
HP:0200006	Slanting of the palpebral fissure	545	ATR	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	545	ATR	OMIM:210600
HP:0200006	Slanting of the palpebral fissure	1062	CENPE	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	5116	PCNT	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	5116	PCNT	ORPHA:2637
HP:0200006	Slanting of the palpebral fissure	5932	RBBP8	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	79902	NUP85	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	84126	ATRIP	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	55835	CENPJ	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	10293	TRAIP	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	10733	PLK4	ORPHA:808
HP:0200006	Slanting of the palpebral fissure	84317	CCDC115	OMIM:616828
HP:0200006	Slanting of the palpebral fissure	79791	FBXO31	OMIM:615979
HP:0200006	Slanting of the palpebral fissure	157570	ESCO2	OMIM:268300
HP:0200006	Slanting of the palpebral fissure	5631	PRPS1	OMIM:300661
HP:0200006	Slanting of the palpebral fissure	29123	ANKRD11	OMIM:148050
HP:0200006	Slanting of the palpebral fissure	22907	DHX30	OMIM:617804
HP:0200006	Slanting of the palpebral fissure	51053	GMNN	OMIM:616835
HP:0200006	Slanting of the palpebral fissure	2245	FGD1	ORPHA:915
HP:0200006	Slanting of the palpebral fissure	2245	FGD1	OMIM:305400
HP:0200006	Slanting of the palpebral fissure	6497	SKI	ORPHA:2462
HP:0200006	Slanting of the palpebral fissure	6497	SKI	OMIM:182212
HP:0200006	Slanting of the palpebral fissure	196528	ARID2	OMIM:617808
HP:0200006	Slanting of the palpebral fissure	3720	JARID2	OMIM:620098
HP:0200006	Slanting of the palpebral fissure	10075	HUWE1	OMIM:309590
HP:0200006	Slanting of the palpebral fissure	5648	MASP1	OMIM:257920
HP:0200006	Slanting of the palpebral fissure	5648	MASP1	ORPHA:293843
HP:0200006	Slanting of the palpebral fissure	23394	ADNP	OMIM:615873
HP:0200006	Slanting of the palpebral fissure	11133	KPTN	OMIM:615637
HP:0200006	Slanting of the palpebral fissure	11133	KPTN	ORPHA:397612
HP:0200006	Slanting of the palpebral fissure	65062	TMEM237	OMIM:614424
HP:0200006	Slanting of the palpebral fissure	23028	KDM1A	OMIM:616728
HP:0200006	Slanting of the palpebral fissure	23028	KDM1A	ORPHA:477993
HP:0200006	Slanting of the palpebral fissure	55593	OTUD5	OMIM:301056
HP:0200006	Slanting of the palpebral fissure	4854	NOTCH3	OMIM:130720
HP:0200006	Slanting of the palpebral fissure	4854	NOTCH3	ORPHA:2789
HP:0200006	Slanting of the palpebral fissure	473	RERE	OMIM:616975
HP:0200006	Slanting of the palpebral fissure	83479	DDX59	OMIM:174300
HP:0200006	Slanting of the palpebral fissure	998	CDC42	OMIM:616737
HP:0200006	Slanting of the palpebral fissure	998	CDC42	ORPHA:487796
HP:0200006	Slanting of the palpebral fissure	10982	MAPRE2	OMIM:616734
HP:0200006	Slanting of the palpebral fissure	4297	KMT2A	OMIM:605130
HP:0200006	Slanting of the palpebral fissure	101929726	MYMX	ORPHA:1358
HP:0200006	Slanting of the palpebral fissure	84679	SLC9A7	OMIM:301024
HP:0200006	Slanting of the palpebral fissure	90161	HS6ST2	OMIM:301025
HP:0200006	Slanting of the palpebral fissure	63035	BCORL1	OMIM:301029
HP:0200006	Slanting of the palpebral fissure	1778	DYNC1H1	OMIM:614563
HP:0200006	Slanting of the palpebral fissure	5604	MAP2K1	ORPHA:1340
HP:0200006	Slanting of the palpebral fissure	5604	MAP2K1	OMIM:163950
HP:0200006	Slanting of the palpebral fissure	1000	CDH2	OMIM:618929
HP:0200006	Slanting of the palpebral fissure	2248	FGF3	ORPHA:90024
HP:0200006	Slanting of the palpebral fissure	10943	MSL3	OMIM:301032
HP:0200006	Slanting of the palpebral fissure	5718	PSMD12	ORPHA:529962
HP:0200006	Slanting of the palpebral fissure	2186	BPTF	ORPHA:529962
HP:0200006	Slanting of the palpebral fissure	55644	OSGEP	OMIM:617729
HP:0200006	Slanting of the palpebral fissure	2313	FLI1	ORPHA:2308
HP:0200006	Slanting of the palpebral fissure	538	ATP7A	ORPHA:198
HP:0200006	Slanting of the palpebral fissure	6628	SNRPB	OMIM:117650
HP:0200006	Slanting of the palpebral fissure	8929	PHOX2B	OMIM:209880
HP:0200006	Slanting of the palpebral fissure	29957	SLC25A24	OMIM:612289
HP:0200006	Slanting of the palpebral fissure	91461	PKDCC	OMIM:618821
HP:0200006	Slanting of the palpebral fissure	4329	ALDH6A1	OMIM:614105
HP:0200006	Slanting of the palpebral fissure	80152	CENPT	OMIM:618702
HP:0200006	Slanting of the palpebral fissure	8405	SPOP	OMIM:618828
HP:0200006	Slanting of the palpebral fissure	26047	CNTNAP2	ORPHA:163681
HP:0200006	Slanting of the palpebral fissure	23630	KCNE5	ORPHA:86818
HP:0200006	Slanting of the palpebral fissure	2182	ACSL4	ORPHA:86818
HP:0200006	Slanting of the palpebral fissure	55617	TASP1	OMIM:618950
HP:0200006	Slanting of the palpebral fissure	100151683	RNU4ATAC	OMIM:616651
HP:0200006	Slanting of the palpebral fissure	100151683	RNU4ATAC	ORPHA:2636
HP:0200006	Slanting of the palpebral fissure	1806	DPYD	ORPHA:1675
HP:0200006	Slanting of the palpebral fissure	5500	PPP1CB	OMIM:617506
HP:0200006	Slanting of the palpebral fissure	113246	C12orf57	OMIM:218340
HP:0200006	Slanting of the palpebral fissure	2273	FHL1	OMIM:300280
HP:0200006	Slanting of the palpebral fissure	4841	NONO	ORPHA:466791
HP:0200006	Slanting of the palpebral fissure	529	ATP6V1E1	ORPHA:357074
HP:0200006	Slanting of the palpebral fissure	158326	FREM1	OMIM:614485
HP:0200006	Slanting of the palpebral fissure	4000	LMNA	ORPHA:1662
HP:0200006	Slanting of the palpebral fissure	10269	ZMPSTE24	ORPHA:1662
HP:0200006	Slanting of the palpebral fissure	8777	MPDZ	OMIM:615219
HP:0200006	Slanting of the palpebral fissure	10584	COLEC10	ORPHA:293843
HP:0200006	Slanting of the palpebral fissure	3778	KCNMA1	OMIM:618729
HP:0200006	Slanting of the palpebral fissure	71	ACTG1	ORPHA:2995
HP:0200006	Slanting of the palpebral fissure	60	ACTB	ORPHA:2995
HP:0200006	Slanting of the palpebral fissure	6223	RPS19	OMIM:105650
HP:0200006	Slanting of the palpebral fissure	9469	CHST3	OMIM:245600
HP:0200006	Slanting of the palpebral fissure	26229	B3GAT3	OMIM:245600
HP:0200006	Slanting of the palpebral fissure	5307	PITX1	OMIM:119800
HP:0200006	Slanting of the palpebral fissure	18	ABAT	OMIM:613163
HP:0200006	Slanting of the palpebral fissure	3832	KIF11	OMIM:152950
HP:0200006	Slanting of the palpebral fissure	7043	TGFB3	OMIM:615582
HP:0200006	Slanting of the palpebral fissure	7545	ZIC1	OMIM:618736
HP:0200006	Slanting of the palpebral fissure	4281	MID1	ORPHA:2745
HP:0200006	Slanting of the palpebral fissure	4858	NOVA2	OMIM:618859
HP:0200006	Slanting of the palpebral fissure	9181	ARHGEF2	OMIM:617523
HP:0200006	Slanting of the palpebral fissure	4654	MYOD1	OMIM:618975
HP:0200006	Slanting of the palpebral fissure	55753	OGDHL	OMIM:619701
HP:0200006	Slanting of the palpebral fissure	58499	ZNF462	OMIM:618619
HP:0200006	Slanting of the palpebral fissure	104	ADARB1	OMIM:618862
HP:0200006	Slanting of the palpebral fissure	5885	RAD21	OMIM:614701
HP:0200006	Slanting of the palpebral fissure	57539	WDR35	OMIM:613610
HP:0200006	Slanting of the palpebral fissure	4897	NRCAM	OMIM:619833
HP:0200006	Slanting of the palpebral fissure	145173	B3GLCT	ORPHA:709
HP:0200006	Slanting of the palpebral fissure	145173	B3GLCT	OMIM:261540
HP:0200006	Slanting of the palpebral fissure	7109	TRAPPC10	OMIM:620027
HP:0200006	Slanting of the palpebral fissure	7109	TRAPPC10	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	55733	HHAT	OMIM:600092
HP:0200006	Slanting of the palpebral fissure	7518	XRCC4	ORPHA:99812
HP:0200006	Slanting of the palpebral fissure	3981	LIG4	ORPHA:99812
HP:0200006	Slanting of the palpebral fissure	3981	LIG4	OMIM:606593
HP:0200006	Slanting of the palpebral fissure	4774	NFIA	OMIM:613735
HP:0200006	Slanting of the palpebral fissure	5830	PEX5	OMIM:214110
HP:0200006	Slanting of the palpebral fissure	5830	PEX5	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	10084	PQBP1	ORPHA:93950
HP:0200006	Slanting of the palpebral fissure	10084	PQBP1	ORPHA:93947
HP:0200006	Slanting of the palpebral fissure	10084	PQBP1	OMIM:309500
HP:0200006	Slanting of the palpebral fissure	197131	UBR1	OMIM:243800
HP:0200006	Slanting of the palpebral fissure	89910	UBE3B	OMIM:244450
HP:0200006	Slanting of the palpebral fissure	89910	UBE3B	ORPHA:2707
HP:0200006	Slanting of the palpebral fissure	283489	CHAMP1	OMIM:616579
HP:0200006	Slanting of the palpebral fissure	80055	PGAP1	OMIM:615802
HP:0200006	Slanting of the palpebral fissure	2314	FLII	ORPHA:819
HP:0200006	Slanting of the palpebral fissure	23096	IQSEC2	ORPHA:819
HP:0200006	Slanting of the palpebral fissure	10522	DEAF1	ORPHA:819
HP:0200006	Slanting of the palpebral fissure	10522	DEAF1	OMIM:615828
HP:0200006	Slanting of the palpebral fissure	10225	CD96	OMIM:211750
HP:0200006	Slanting of the palpebral fissure	10225	CD96	ORPHA:1308
HP:0200006	Slanting of the palpebral fissure	5189	PEX1	OMIM:214100
HP:0200006	Slanting of the palpebral fissure	5189	PEX1	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	55650	PIGV	OMIM:239300
HP:0200006	Slanting of the palpebral fissure	55650	PIGV	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	84992	PIGY	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	84720	PIGO	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	84720	PIGO	OMIM:614749
HP:0200006	Slanting of the palpebral fissure	93210	PGAP3	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	93210	PGAP3	OMIM:615716
HP:0200006	Slanting of the palpebral fissure	284098	PIGW	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	27315	PGAP2	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	9487	PIGL	ORPHA:247262
HP:0200006	Slanting of the palpebral fissure	9487	PIGL	ORPHA:3474
HP:0200006	Slanting of the palpebral fissure	4001	LMNB1	OMIM:619179
HP:0200006	Slanting of the palpebral fissure	284058	KANSL1	ORPHA:363958
HP:0200006	Slanting of the palpebral fissure	284058	KANSL1	ORPHA:363965
HP:0200006	Slanting of the palpebral fissure	284058	KANSL1	OMIM:610443
HP:0200006	Slanting of the palpebral fissure	8913	CACNA1G	OMIM:618087
HP:0200006	Slanting of the palpebral fissure	672	BRCA1	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	672	BRCA1	OMIM:617883
HP:0200006	Slanting of the palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	7516	XRCC2	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	29089	UBE2T	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	675	BRCA2	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	55120	FANCL	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	55120	FANCL	OMIM:614083
HP:0200006	Slanting of the palpebral fissure	2177	FANCD2	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2175	FANCA	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2187	FANCB	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2176	FANCC	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2178	FANCE	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2188	FANCF	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2189	FANCG	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	5888	RAD51	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	5889	RAD51C	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	55159	RFWD3	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	83990	BRIP1	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	57697	FANCM	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	79728	PALB2	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	84464	SLX4	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	2072	ERCC4	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	55215	FANCI	ORPHA:84
HP:0200006	Slanting of the palpebral fissure	5191	PEX7	OMIM:215100
HP:0200006	Slanting of the palpebral fissure	8546	AP3B1	OMIM:608233
HP:0200006	Slanting of the palpebral fissure	7020	TFAP2A	OMIM:113620
HP:0200006	Slanting of the palpebral fissure	7020	TFAP2A	ORPHA:1297
HP:0200006	Slanting of the palpebral fissure	9896	FIG4	ORPHA:3472
HP:0200006	Slanting of the palpebral fissure	9896	FIG4	OMIM:216340
HP:0200006	Slanting of the palpebral fissure	55697	VAC14	ORPHA:3472
HP:0200006	Slanting of the palpebral fissure	10087	CERT1	OMIM:616351
HP:0200006	Slanting of the palpebral fissure	4212	MEIS2	OMIM:600987
HP:0200006	Slanting of the palpebral fissure	23036	ZNF292	OMIM:619188
HP:0200006	Slanting of the palpebral fissure	79813	EHMT1	OMIM:610253
HP:0200006	Slanting of the palpebral fissure	93627	TBCK	ORPHA:488632
HP:0200006	Slanting of the palpebral fissure	1954	MEGF8	OMIM:614976
HP:0200006	Slanting of the palpebral fissure	84300	UQCC2	OMIM:615824
HP:0200006	Slanting of the palpebral fissure	2783	GNB2	OMIM:619503
HP:0200006	Slanting of the palpebral fissure	26057	ANKRD17	OMIM:619504
HP:0200006	Slanting of the palpebral fissure	26005	C2CD3	OMIM:615948
HP:0200006	Slanting of the palpebral fissure	26005	C2CD3	ORPHA:434179
HP:0200006	Slanting of the palpebral fissure	1174	AP1S1	OMIM:609313
HP:0200006	Slanting of the palpebral fissure	3192	HNRNPU	ORPHA:238769
HP:0200006	Slanting of the palpebral fissure	9653	HS2ST1	OMIM:619194
HP:0200006	Slanting of the palpebral fissure	10801	SEPTIN9	OMIM:162100
HP:0200006	Slanting of the palpebral fissure	7025	NR2F1	ORPHA:401777
HP:0200006	Slanting of the palpebral fissure	7025	NR2F1	OMIM:615722
HP:0200006	Slanting of the palpebral fissure	26038	CHD5	OMIM:619873
HP:0200006	Slanting of the palpebral fissure	3043	HBB	ORPHA:231214
HP:0200006	Slanting of the palpebral fissure	3043	HBB	ORPHA:231226
HP:0200006	Slanting of the palpebral fissure	84879	MFSD2A	OMIM:616486
HP:0200006	Slanting of the palpebral fissure	84879	MFSD2A	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	5063	PAK3	OMIM:300558
HP:0200006	Slanting of the palpebral fissure	5190	PEX6	OMIM:614862
HP:0200006	Slanting of the palpebral fissure	5190	PEX6	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	8363	H4C11	OMIM:619759
HP:0200006	Slanting of the palpebral fissure	116115	ZNF526	OMIM:619877
HP:0200006	Slanting of the palpebral fissure	8364	H4C3	OMIM:619758
HP:0200006	Slanting of the palpebral fissure	286	ANK1	ORPHA:251066
HP:0200006	Slanting of the palpebral fissure	9719	ADAMTSL2	OMIM:231050
HP:0200006	Slanting of the palpebral fissure	10236	HNRNPR	OMIM:620073
HP:0200006	Slanting of the palpebral fissure	51611	DPH5	OMIM:620070
HP:0200006	Slanting of the palpebral fissure	55210	ATAD3A	ORPHA:496790
HP:0200006	Slanting of the palpebral fissure	55210	ATAD3A	OMIM:617183
HP:0200006	Slanting of the palpebral fissure	57459	GATAD2B	ORPHA:363686
HP:0200006	Slanting of the palpebral fissure	56098	PCDHGC4	OMIM:619880
HP:0200006	Slanting of the palpebral fissure	113179	ADAT3	OMIM:615286
HP:0200006	Slanting of the palpebral fissure	113179	ADAT3	ORPHA:363528
HP:0200006	Slanting of the palpebral fissure	4849	CNOT3	OMIM:618672
HP:0200006	Slanting of the palpebral fissure	182	JAG1	OMIM:118450
HP:0200006	Slanting of the palpebral fissure	6925	TCF4	OMIM:610954
HP:0200006	Slanting of the palpebral fissure	6925	TCF4	ORPHA:2896
HP:0200006	Slanting of the palpebral fissure	4208	MEF2C	ORPHA:228384
HP:0200006	Slanting of the palpebral fissure	4208	MEF2C	OMIM:613443
HP:0200006	Slanting of the palpebral fissure	5373	PMM2	ORPHA:79318
HP:0200006	Slanting of the palpebral fissure	4677	NARS1	OMIM:619092
HP:0200006	Slanting of the palpebral fissure	8242	KDM5C	OMIM:300534
HP:0200006	Slanting of the palpebral fissure	23162	MAPK8IP3	OMIM:618443
HP:0200006	Slanting of the palpebral fissure	79989	IFT56	OMIM:619534
HP:0200006	Slanting of the palpebral fissure	23483	TGDS	OMIM:616145
HP:0200006	Slanting of the palpebral fissure	10463	SLC30A9	OMIM:617595
HP:0200006	Slanting of the palpebral fissure	546	ATRX	OMIM:309580
HP:0200006	Slanting of the palpebral fissure	64919	BCL11B	OMIM:617237
HP:0200006	Slanting of the palpebral fissure	92154	MTSS2	OMIM:620086
HP:0200006	Slanting of the palpebral fissure	7546	ZIC2	OMIM:609637
HP:0200006	Slanting of the palpebral fissure	171023	ASXL1	OMIM:605039
HP:0200006	Slanting of the palpebral fissure	55023	PHIP	ORPHA:589905
HP:0200006	Slanting of the palpebral fissure	55023	PHIP	OMIM:617991
HP:0200006	Slanting of the palpebral fissure	8295	TRRAP	OMIM:618454
HP:0200006	Slanting of the palpebral fissure	9742	IFT140	OMIM:266920
HP:0200006	Slanting of the palpebral fissure	8621	CDK13	OMIM:617360
HP:0200006	Slanting of the palpebral fissure	79228	THOC6	OMIM:613680
HP:0200006	Slanting of the palpebral fissure	54101	RIPK4	OMIM:263650
HP:0200006	Slanting of the palpebral fissure	60529	ALX4	ORPHA:228390
HP:0200006	Slanting of the palpebral fissure	60529	ALX4	OMIM:613451
HP:0200006	Slanting of the palpebral fissure	2702	GJA5	OMIM:612474
HP:0200006	Slanting of the palpebral fissure	2703	GJA8	OMIM:612474
HP:0200006	Slanting of the palpebral fissure	1642	DDB1	OMIM:619426
HP:0200006	Slanting of the palpebral fissure	7319	UBE2A	ORPHA:163956
HP:0200006	Slanting of the palpebral fissure	7319	UBE2A	OMIM:300860
HP:0200006	Slanting of the palpebral fissure	55770	EXOC2	OMIM:619306
HP:0200006	Slanting of the palpebral fissure	55670	PEX26	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5824	PEX19	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5828	PEX2	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	8799	PEX11B	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	9409	PEX16	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5193	PEX12	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5194	PEX13	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5195	PEX14	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	5192	PEX10	ORPHA:912
HP:0200006	Slanting of the palpebral fissure	9230	RAB11B	OMIM:617807
HP:0200006	Slanting of the palpebral fissure	55081	IFT57	OMIM:617927
HP:0200006	Slanting of the palpebral fissure	9488	PIGB	OMIM:618580
HP:0200006	Slanting of the palpebral fissure	91949	COG7	OMIM:608779
HP:0200006	Slanting of the palpebral fissure	1281	COL3A1	OMIM:618343
HP:0200006	Slanting of the palpebral fissure	1859	DYRK1A	ORPHA:268261
HP:0200006	Slanting of the palpebral fissure	4683	NBN	OMIM:251260
HP:0200006	Slanting of the palpebral fissure	4683	NBN	ORPHA:647
HP:0200006	Slanting of the palpebral fissure	9759	HDAC4	ORPHA:1001
HP:0200006	Slanting of the palpebral fissure	9759	HDAC4	OMIM:600430
HP:0200006	Slanting of the palpebral fissure	50814	NSDHL	ORPHA:251383
HP:0200006	Slanting of the palpebral fissure	50814	NSDHL	OMIM:300831
HP:0200006	Slanting of the palpebral fissure	7681	MKRN3	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	3653	IPW	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	54551	MAGEL2	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	791114	PWRN1	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	100033413	SNORD116-1	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	8924	HERC2	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	145624	PWAR1	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	23742	NPAP1	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	338433	SNORD115-1	OMIM:176270
HP:0200006	Slanting of the palpebral fissure	5575	PRKAR1B	OMIM:619680
HP:0200006	Slanting of the palpebral fissure	2623	GATA1	OMIM:190685
HP:0200006	Slanting of the palpebral fissure	23030	KDM4B	OMIM:619320
HP:0200006	Slanting of the palpebral fissure	6492	SIM1	ORPHA:171829
HP:0200006	Slanting of the palpebral fissure	84162	BLTP1	OMIM:617822
HP:0200006	Slanting of the palpebral fissure	55784	MCTP2	ORPHA:1596
HP:0200006	Slanting of the palpebral fissure	3097	HIVEP2	OMIM:616977
HP:0200006	Slanting of the palpebral fissure	4952	OCRL	ORPHA:534
HP:0200006	Slanting of the palpebral fissure	6904	TBCD	ORPHA:496641
HP:0200006	Slanting of the palpebral fissure	6904	TBCD	OMIM:617193
HP:0200006	Slanting of the palpebral fissure	1741	DLG3	OMIM:300850
HP:0200006	Slanting of the palpebral fissure	51116	MRPS2	OMIM:617950
HP:0200006	Slanting of the palpebral fissure	55906	ZC4H2	OMIM:314580
HP:0200006	Slanting of the palpebral fissure	92255	LMBRD2	OMIM:619694
HP:0200006	Slanting of the palpebral fissure	1108	CHD4	OMIM:617159
HP:0200006	Slanting of the palpebral fissure	23389	MED13L	ORPHA:369891
HP:0200006	Slanting of the palpebral fissure	23389	MED13L	OMIM:616789
HP:0200006	Slanting of the palpebral fissure	9241	NOG	OMIM:186500
HP:0200006	Slanting of the palpebral fissure	22827	PUF60	ORPHA:508488
HP:0200006	Slanting of the palpebral fissure	1781	DYNC1I2	OMIM:618492
HP:0200006	Slanting of the palpebral fissure	5422	POLA1	OMIM:301030
HP:0200006	Slanting of the palpebral fissure	9451	EIF2AK3	OMIM:226980
HP:0200006	Slanting of the palpebral fissure	5277	PIGA	OMIM:300868
HP:0200006	Slanting of the palpebral fissure	25	ABL1	OMIM:617602
HP:0200006	Slanting of the palpebral fissure	4613	MYCN	OMIM:164280
HP:0200006	Slanting of the palpebral fissure	29980	DONSON	OMIM:617604
HP:0200006	Slanting of the palpebral fissure	6638	SNRPN	ORPHA:177907
HP:0200006	Slanting of the palpebral fissure	59336	PRDM13	OMIM:619909
HP:0200006	Slanting of the palpebral fissure	10771	ZMYND11	OMIM:616083
HP:0200006	Slanting of the palpebral fissure	6611	SMS	ORPHA:3063
HP:0200006	Slanting of the palpebral fissure	11212	PLPBP	OMIM:617290
HP:0200006	Slanting of the palpebral fissure	84265	POLR3GL	OMIM:619234
HP:0200006	Slanting of the palpebral fissure	348180	CTU2	OMIM:618142
HP:0200006	Slanting of the palpebral fissure	51604	PIGT	ORPHA:369837
HP:0200006	Slanting of the palpebral fissure	6711	SPTBN1	OMIM:619475
HP:0200006	Slanting of the palpebral fissure	1861	TOR1A	OMIM:618947
HP:0200006	Slanting of the palpebral fissure	4659	PPP1R12A	OMIM:618820
HP:0200006	Slanting of the palpebral fissure	9894	TELO2	ORPHA:488642
HP:0200006	Slanting of the palpebral fissure	80036	TRPM3	OMIM:620224
HP:0200006	Slanting of the palpebral fissure	25914	RTTN	ORPHA:468631
HP:0200006	Slanting of the palpebral fissure	8936	WASF1	OMIM:618707
HP:0200006	Slanting of the palpebral fissure	63932	STEEP1	OMIM:301013
HP:0200006	Slanting of the palpebral fissure	23556	PIGN	ORPHA:280633
HP:0200006	Slanting of the palpebral fissure	203068	TUBB	OMIM:156610
HP:0200006	Slanting of the palpebral fissure	54870	QRICH1	OMIM:617982
HP:0200006	Slanting of the palpebral fissure	9508	ADAMTS3	OMIM:618154
HP:0200006	Slanting of the palpebral fissure	90416	CCDC32	OMIM:619123
HP:0200006	Slanting of the palpebral fissure	6911	TBX6	ORPHA:1797
HP:0200006	Slanting of the palpebral fissure	10551	AGR2	OMIM:620233
HP:0200006	Slanting of the palpebral fissure	9320	TRIP12	OMIM:617752
HP:0200006	Slanting of the palpebral fissure	1315	COPB1	OMIM:619255
HP:0200006	Slanting of the palpebral fissure	1748	DLX4	OMIM:616788
HP:0200006	Slanting of the palpebral fissure	4724	NDUFS4	OMIM:252010
HP:0200006	Slanting of the palpebral fissure	3295	HSD17B4	OMIM:261515
HP:0200006	Slanting of the palpebral fissure	4848	CNOT2	OMIM:618608
HP:0200006	Slanting of the palpebral fissure	9276	COPB2	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	11113	CIT	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	9928	KIF14	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	284403	WDR62	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	55262	TRAPPC14	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	163786	SASS6	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	4176	MCM7	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	80254	CEP63	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	29081	METTL5	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	23310	NCAPD3	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	55755	CDK5RAP2	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	79648	MCPH1	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	6491	STIL	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	23141	ANKLE2	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	259266	ASPM	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	1911	PHC1	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	6884	TAF13	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	9662	CEP135	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	57082	KNL1	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	1021	CDK6	ORPHA:2512
HP:0200006	Slanting of the palpebral fissure	23133	PHF8	OMIM:300263
HP:0200006	Slanting of the palpebral fissure	11011	TLK2	OMIM:618050
HP:0200006	Slanting of the palpebral fissure	4204	MECP2	OMIM:300260
HP:0200006	Slanting of the palpebral fissure	129285	PPP1R21	OMIM:619383
HP:0200006	Slanting of the palpebral fissure	114034	TOE1	ORPHA:284339
HP:0200006	Slanting of the palpebral fissure	9562	MINPP1	ORPHA:284339
HP:0200006	Slanting of the palpebral fissure	11141	IL1RAPL1	OMIM:300143
HP:0200006	Slanting of the palpebral fissure	27161	AGO2	OMIM:619149
HP:0200006	Slanting of the palpebral fissure	23404	EXOSC2	OMIM:617763
HP:0200006	Slanting of the palpebral fissure	10844	TUBGCP2	OMIM:618737
HP:0200006	Slanting of the palpebral fissure	84148	KAT8	OMIM:618974
HP:0200006	Slanting of the palpebral fissure	3480	IGF1R	OMIM:270450
HP:0200007	Abnormal size of the palpebral fissures	27316	RBMX	OMIM:300238
HP:0200007	Abnormal size of the palpebral fissures	199857	ALG14	OMIM:619036
HP:0200007	Abnormal size of the palpebral fissures	4204	MECP2	ORPHA:1762
HP:0200007	Abnormal size of the palpebral fissures	57539	WDR35	OMIM:613610
HP:0200007	Abnormal size of the palpebral fissures	5077	PAX3	ORPHA:1529
HP:0200007	Abnormal size of the palpebral fissures	5077	PAX3	OMIM:193500
HP:0200007	Abnormal size of the palpebral fissures	5077	PAX3	ORPHA:896
HP:0200007	Abnormal size of the palpebral fissures	5077	PAX3	OMIM:148820
HP:0200007	Abnormal size of the palpebral fissures	10992	SF3B2	OMIM:164210
HP:0200007	Abnormal size of the palpebral fissures	64220	STRA6	OMIM:601186
HP:0200007	Abnormal size of the palpebral fissures	55209	SETD5	ORPHA:404440
HP:0200007	Abnormal size of the palpebral fissures	613	BCR	ORPHA:261330
HP:0200007	Abnormal size of the palpebral fissures	1399	CRKL	ORPHA:261330
HP:0200007	Abnormal size of the palpebral fissures	5594	MAPK1	ORPHA:261330
HP:0200007	Abnormal size of the palpebral fissures	89910	UBE3B	OMIM:244450
HP:0200007	Abnormal size of the palpebral fissures	89910	UBE3B	ORPHA:2707
HP:0200007	Abnormal size of the palpebral fissures	6662	SOX9	OMIM:114290
HP:0200007	Abnormal size of the palpebral fissures	10584	COLEC10	OMIM:248340
HP:0200007	Abnormal size of the palpebral fissures	10584	COLEC10	ORPHA:293843
HP:0200007	Abnormal size of the palpebral fissures	284058	KANSL1	ORPHA:363958
HP:0200007	Abnormal size of the palpebral fissures	284058	KANSL1	ORPHA:363965
HP:0200007	Abnormal size of the palpebral fissures	284058	KANSL1	OMIM:610443
HP:0200007	Abnormal size of the palpebral fissures	7841	MOGS	OMIM:606056
HP:0200007	Abnormal size of the palpebral fissures	6899	TBX1	OMIM:188400
HP:0200007	Abnormal size of the palpebral fissures	6899	TBX1	OMIM:192430
HP:0200007	Abnormal size of the palpebral fissures	8642	DCHS1	OMIM:601390
HP:0200007	Abnormal size of the palpebral fissures	8642	DCHS1	ORPHA:314679
HP:0200007	Abnormal size of the palpebral fissures	2697	GJA1	OMIM:164200
HP:0200007	Abnormal size of the palpebral fissures	1123	CHN1	ORPHA:233
HP:0200007	Abnormal size of the palpebral fissures	2074	ERCC6	OMIM:214150
HP:0200007	Abnormal size of the palpebral fissures	3981	LIG4	ORPHA:235
HP:0200007	Abnormal size of the palpebral fissures	54888	NSUN2	ORPHA:235
HP:0200007	Abnormal size of the palpebral fissures	54888	NSUN2	OMIM:611091
HP:0200007	Abnormal size of the palpebral fissures	4953	ODC1	OMIM:619075
HP:0200007	Abnormal size of the palpebral fissures	4953	ODC1	ORPHA:544488
HP:0200007	Abnormal size of the palpebral fissures	10801	SEPTIN9	OMIM:162100
HP:0200007	Abnormal size of the palpebral fissures	4593	MUSK	OMIM:208150
HP:0200007	Abnormal size of the palpebral fissures	6608	SMO	OMIM:601707
HP:0200007	Abnormal size of the palpebral fissures	7862	BRPF1	OMIM:617333
HP:0200007	Abnormal size of the palpebral fissures	79633	FAT4	OMIM:616006
HP:0200007	Abnormal size of the palpebral fissures	79633	FAT4	ORPHA:314679
HP:0200007	Abnormal size of the palpebral fissures	79633	FAT4	OMIM:615546
HP:0200007	Abnormal size of the palpebral fissures	6804	STX1A	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	7461	CLIP2	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	84277	DNAJC30	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	8468	FKBP6	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	5982	RFC2	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	2969	GTF2I	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	3984	LIMK1	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	9569	GTF2IRD1	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	155382	VPS37D	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	155368	METTL27	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	114049	BUD23	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	7458	EIF4H	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	84163	GTF2IRD2	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	9275	BCL7B	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	26608	TBL2	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	653361	NCF1	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	135886	TMEM270	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	51085	MLXIPL	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	51085	MLXIPL	OMIM:194050
HP:0200007	Abnormal size of the palpebral fissures	9031	BAZ1B	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	2006	ELN	ORPHA:904
HP:0200007	Abnormal size of the palpebral fissures	2006	ELN	OMIM:194050
HP:0200007	Abnormal size of the palpebral fissures	81031	SLC2A10	ORPHA:3342
HP:0200007	Abnormal size of the palpebral fissures	81031	SLC2A10	OMIM:208050
HP:0200007	Abnormal size of the palpebral fissures	286	ANK1	ORPHA:251066
HP:0200007	Abnormal size of the palpebral fissures	10907	TXNL4A	OMIM:608572
HP:0200007	Abnormal size of the palpebral fissures	78989	COLEC11	OMIM:265050
HP:0200007	Abnormal size of the palpebral fissures	78989	COLEC11	ORPHA:293843
HP:0200007	Abnormal size of the palpebral fissures	4089	SMAD4	OMIM:139210
HP:0200007	Abnormal size of the palpebral fissures	4089	SMAD4	ORPHA:2588
HP:0200007	Abnormal size of the palpebral fissures	27086	FOXP1	ORPHA:391372
HP:0200007	Abnormal size of the palpebral fissures	7358	UGDH	OMIM:618792
HP:0200007	Abnormal size of the palpebral fissures	3845	KRAS	ORPHA:3339
HP:0200007	Abnormal size of the palpebral fissures	9993	DGCR2	OMIM:192430
HP:0200007	Abnormal size of the palpebral fissures	8220	ESS2	OMIM:192430
HP:0200007	Abnormal size of the palpebral fissures	8214	DGCR6	OMIM:192430
HP:0200007	Abnormal size of the palpebral fissures	54487	DGCR8	OMIM:192430
HP:0200007	Abnormal size of the palpebral fissures	388015	RTL1	ORPHA:96334
HP:0200007	Abnormal size of the palpebral fissures	8788	DLK1	ORPHA:96334
HP:0200007	Abnormal size of the palpebral fissures	55384	MEG3	ORPHA:96334
HP:0200007	Abnormal size of the palpebral fissures	668	FOXL2	ORPHA:572333
HP:0200007	Abnormal size of the palpebral fissures	668	FOXL2	OMIM:110100
HP:0200007	Abnormal size of the palpebral fissures	3187	HNRNPH1	OMIM:620083
HP:0200007	Abnormal size of the palpebral fissures	63895	PIEZO2	OMIM:248700
HP:0200007	Abnormal size of the palpebral fissures	63895	PIEZO2	ORPHA:2461
HP:0200007	Abnormal size of the palpebral fissures	63895	PIEZO2	OMIM:108145
HP:0200007	Abnormal size of the palpebral fissures	9968	MED12	OMIM:300895
HP:0200007	Abnormal size of the palpebral fissures	9968	MED12	ORPHA:293707
HP:0200007	Abnormal size of the palpebral fissures	3339	HSPG2	OMIM:255800
HP:0200007	Abnormal size of the palpebral fissures	3339	HSPG2	ORPHA:800
HP:0200007	Abnormal size of the palpebral fissures	84295	PHF6	ORPHA:127
HP:0200007	Abnormal size of the palpebral fissures	84295	PHF6	OMIM:301900
HP:0200007	Abnormal size of the palpebral fissures	1387	CREBBP	OMIM:618332
HP:0200007	Abnormal size of the palpebral fissures	2033	EP300	OMIM:618333
HP:0200007	Abnormal size of the palpebral fissures	8621	CDK13	OMIM:617360
HP:0200007	Abnormal size of the palpebral fissures	54101	RIPK4	OMIM:263650
HP:0200007	Abnormal size of the palpebral fissures	10075	HUWE1	OMIM:309590
HP:0200007	Abnormal size of the palpebral fissures	27238	GPKOW	ORPHA:2570
HP:0200007	Abnormal size of the palpebral fissures	57459	GATAD2B	OMIM:615074
HP:0200007	Abnormal size of the palpebral fissures	60529	ALX4	OMIM:613451
HP:0200007	Abnormal size of the palpebral fissures	5648	MASP1	OMIM:257920
HP:0200007	Abnormal size of the palpebral fissures	5648	MASP1	ORPHA:293843
HP:0200007	Abnormal size of the palpebral fissures	1788	DNMT3A	OMIM:615879
HP:0200007	Abnormal size of the palpebral fissures	8626	TP63	OMIM:604292
HP:0200007	Abnormal size of the palpebral fissures	91179	SCARF2	OMIM:600920
HP:0200007	Abnormal size of the palpebral fissures	473	RERE	OMIM:616975
HP:0200007	Abnormal size of the palpebral fissures	473	RERE	ORPHA:494344
HP:0200007	Abnormal size of the palpebral fissures	55784	MCTP2	ORPHA:1596
HP:0200007	Abnormal size of the palpebral fissures	10982	MAPRE2	OMIM:616734
HP:0200007	Abnormal size of the palpebral fissures	2067	ERCC1	OMIM:610758
HP:0200007	Abnormal size of the palpebral fissures	4297	KMT2A	OMIM:605130
HP:0200007	Abnormal size of the palpebral fissures	4621	MYH3	OMIM:193700
HP:0200007	Abnormal size of the palpebral fissures	4998	ORC1	OMIM:224690
HP:0200007	Abnormal size of the palpebral fissures	10265	IRX5	OMIM:611174
HP:0200007	Abnormal size of the palpebral fissures	10082	GPC6	OMIM:258315
HP:0200007	Abnormal size of the palpebral fissures	3759	KCNJ2	OMIM:170390
HP:0200007	Abnormal size of the palpebral fissures	64093	SMOC1	ORPHA:1106
HP:0200007	Abnormal size of the palpebral fissures	64093	SMOC1	OMIM:206920
HP:0200007	Abnormal size of the palpebral fissures	23522	KAT6B	OMIM:603736
HP:0200007	Abnormal size of the palpebral fissures	23522	KAT6B	ORPHA:3047
HP:0200007	Abnormal size of the palpebral fissures	545	ATR	OMIM:210600
HP:0200007	Abnormal size of the palpebral fissures	4613	MYCN	OMIM:164280
HP:0200007	Abnormal size of the palpebral fissures	9401	RECQL4	OMIM:266280
HP:0200007	Abnormal size of the palpebral fissures	2290	FOXG1	ORPHA:261144
HP:0200007	Abnormal size of the palpebral fissures	29895	MYL11	OMIM:619110
HP:0200007	Abnormal size of the palpebral fissures	22931	RAB18	OMIM:614222
HP:0200007	Abnormal size of the palpebral fissures	284252	KCTD1	OMIM:181270
HP:0200007	Abnormal size of the palpebral fissures	54880	BCOR	OMIM:300166
HP:0200007	Abnormal size of the palpebral fissures	203068	TUBB	OMIM:156610
HP:0200007	Abnormal size of the palpebral fissures	9702	CEP57	OMIM:614114
HP:0200007	Abnormal size of the palpebral fissures	8450	CUL4B	ORPHA:85293
HP:0200007	Abnormal size of the palpebral fissures	6299	SALL1	ORPHA:857
HP:0200007	Abnormal size of the palpebral fissures	51339	DACT1	ORPHA:857
HP:0200007	Abnormal size of the palpebral fissures	22995	CEP152	OMIM:613823
HP:0200007	Abnormal size of the palpebral fissures	9759	HDAC4	OMIM:600430
HP:0200007	Abnormal size of the palpebral fissures	2177	FANCD2	OMIM:227646
HP:0200007	Abnormal size of the palpebral fissures	4781	NFIB	OMIM:618286
HP:0200007	Abnormal size of the palpebral fissures	55733	HHAT	ORPHA:1422
HP:0200007	Abnormal size of the palpebral fissures	84464	SLX4	OMIM:613951
HP:0200007	Abnormal size of the palpebral fissures	5557	PRIM1	OMIM:620005
HP:0200007	Abnormal size of the palpebral fissures	10269	ZMPSTE24	OMIM:275210
HP:0200007	Abnormal size of the palpebral fissures	6913	TBX15	ORPHA:93333
HP:0200007	Abnormal size of the palpebral fissures	6913	TBX15	OMIM:260660
HP:0200007	Abnormal size of the palpebral fissures	11011	TLK2	OMIM:618050
HP:0200007	Abnormal size of the palpebral fissures	23102	TBC1D2B	ORPHA:397973
HP:0200007	Abnormal size of the palpebral fissures	672	BRCA1	OMIM:617883
HP:0200007	Abnormal size of the palpebral fissures	4921	DDR2	OMIM:618175
HP:0200007	Abnormal size of the palpebral fissures	523	ATP6V1A	OMIM:617403
HP:0200007	Abnormal size of the palpebral fissures	529	ATP6V1E1	OMIM:617402
HP:0200007	Abnormal size of the palpebral fissures	246329	STAC3	OMIM:255995
HP:0200007	Abnormal size of the palpebral fissures	60	ACTB	OMIM:243310
HP:0200007	Abnormal size of the palpebral fissures	60	ACTB	ORPHA:2995
HP:0200007	Abnormal size of the palpebral fissures	699	BUB1	OMIM:620183
HP:0200007	Abnormal size of the palpebral fissures	8812	CCNK	OMIM:618147
HP:0200007	Abnormal size of the palpebral fissures	71	ACTG1	OMIM:614583
HP:0200007	Abnormal size of the palpebral fissures	71	ACTG1	ORPHA:2995
HP:0200007	Abnormal size of the palpebral fissures	10526	IPO8	OMIM:619472
HP:0200007	Abnormal size of the palpebral fissures	9158	FIBP	ORPHA:500095
HP:0200007	Abnormal size of the palpebral fissures	9158	FIBP	OMIM:617107
HP:0200007	Abnormal size of the palpebral fissures	6711	SPTBN1	OMIM:619475
HP:0200007	Abnormal size of the palpebral fissures	51633	OTUD6B	OMIM:617452
HP:0200007	Abnormal size of the palpebral fissures	51633	OTUD6B	ORPHA:505237
HP:0200007	Abnormal size of the palpebral fissures	1857	DVL3	ORPHA:3107
HP:0200007	Abnormal size of the palpebral fissures	7474	WNT5A	ORPHA:3107
HP:0200007	Abnormal size of the palpebral fissures	7474	WNT5A	OMIM:180700
HP:0200007	Abnormal size of the palpebral fissures	1855	DVL1	ORPHA:3107
HP:0200007	Abnormal size of the palpebral fissures	1855	DVL1	OMIM:180700
HP:0200007	Abnormal size of the palpebral fissures	2535	FZD2	ORPHA:3107
HP:0200007	Abnormal size of the palpebral fissures	29123	ANKRD11	ORPHA:2332
HP:0200007	Abnormal size of the palpebral fissures	29123	ANKRD11	OMIM:148050
HP:0200007	Abnormal size of the palpebral fissures	100151683	RNU4ATAC	ORPHA:353298
HP:0200007	Abnormal size of the palpebral fissures	100151683	RNU4ATAC	OMIM:616651
HP:0200007	Abnormal size of the palpebral fissures	84720	PIGO	OMIM:614749
HP:0200007	Abnormal size of the palpebral fissures	84720	PIGO	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	3190	HNRNPK	ORPHA:453504
HP:0200007	Abnormal size of the palpebral fissures	3190	HNRNPK	OMIM:616580
HP:0200007	Abnormal size of the palpebral fissures	3190	HNRNPK	ORPHA:352665
HP:0200007	Abnormal size of the palpebral fissures	51611	DPH5	OMIM:620070
HP:0200007	Abnormal size of the palpebral fissures	3636	INPPL1	OMIM:258480
HP:0200007	Abnormal size of the palpebral fissures	10978	CLP1	ORPHA:411493
HP:0200007	Abnormal size of the palpebral fissures	10978	CLP1	OMIM:615803
HP:0200007	Abnormal size of the palpebral fissures	1759	DNM1	OMIM:620352
HP:0200007	Abnormal size of the palpebral fissures	55650	PIGV	OMIM:239300
HP:0200007	Abnormal size of the palpebral fissures	55650	PIGV	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	4920	ROR2	OMIM:268310
HP:0200007	Abnormal size of the palpebral fissures	4920	ROR2	ORPHA:1507
HP:0200007	Abnormal size of the palpebral fissures	5296	PIK3R2	OMIM:603387
HP:0200007	Abnormal size of the palpebral fissures	84992	PIGY	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	93210	PGAP3	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	284098	PIGW	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	27315	PGAP2	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	27315	PGAP2	OMIM:614207
HP:0200007	Abnormal size of the palpebral fissures	9487	PIGL	ORPHA:247262
HP:0200007	Abnormal size of the palpebral fissures	4001	LMNB1	OMIM:619179
HP:0200007	Abnormal size of the palpebral fissures	818	CAMK2G	OMIM:618522
HP:0200007	Abnormal size of the palpebral fissures	24140	FTSJ1	OMIM:309549
HP:0200007	Abnormal size of the palpebral fissures	92255	LMBRD2	OMIM:619694
HP:0200007	Abnormal size of the palpebral fissures	1984	EIF5A	OMIM:619376
HP:0200007	Abnormal size of the palpebral fissures	8120	AP3B2	OMIM:617276
HP:0200007	Abnormal size of the palpebral fissures	57479	PRR12	OMIM:619539
HP:0200007	Abnormal size of the palpebral fissures	5604	MAP2K1	ORPHA:1340
HP:0200007	Abnormal size of the palpebral fissures	5605	MAP2K2	ORPHA:1340
HP:0200007	Abnormal size of the palpebral fissures	673	BRAF	ORPHA:1340
HP:0200007	Abnormal size of the palpebral fissures	64359	NXN	ORPHA:1507
HP:0200007	Abnormal size of the palpebral fissures	7043	TGFB3	OMIM:615582
HP:0200007	Abnormal size of the palpebral fissures	7403	KDM6A	OMIM:300867
HP:0200007	Abnormal size of the palpebral fissures	7403	KDM6A	OMIM:147920
HP:0200007	Abnormal size of the palpebral fissures	1523	CUX1	OMIM:618330
HP:0200007	Abnormal size of the palpebral fissures	5813	PURA	ORPHA:438216
HP:0200007	Abnormal size of the palpebral fissures	5813	PURA	OMIM:616158
HP:0200007	Abnormal size of the palpebral fissures	170302	ARX	OMIM:300419
HP:0200007	Abnormal size of the palpebral fissures	649	BMP1	OMIM:614856
HP:0200007	Abnormal size of the palpebral fissures	2783	GNB2	OMIM:619503
HP:0200007	Abnormal size of the palpebral fissures	27445	PCLO	OMIM:608027
HP:0200007	Abnormal size of the palpebral fissures	8085	KMT2D	OMIM:147920
HP:0200007	Abnormal size of the palpebral fissures	9935	MAFB	OMIM:617041
HP:0200007	Abnormal size of the palpebral fissures	57167	SALL4	OMIM:607323
HP:0200007	Abnormal size of the palpebral fissures	387	RHOA	OMIM:618727
HP:0200007	Abnormal size of the palpebral fissures	79718	TBL1XR1	OMIM:602342
HP:0200007	Abnormal size of the palpebral fissures	6595	SMARCA2	OMIM:601358
HP:0200007	Abnormal size of the palpebral fissures	84570	COL25A1	ORPHA:91411
HP:0200007	Abnormal size of the palpebral fissures	79776	ZFHX4	ORPHA:91411
HP:0200007	Abnormal size of the palpebral fissures	22827	PUF60	ORPHA:508498
HP:0200007	Abnormal size of the palpebral fissures	91949	COG7	OMIM:608779
HP:0200007	Abnormal size of the palpebral fissures	51574	LARP7	OMIM:615071
HP:0200007	Abnormal size of the palpebral fissures	51574	LARP7	ORPHA:319671
HP:0200007	Abnormal size of the palpebral fissures	8367	H4C5	OMIM:619950
HP:0200007	Abnormal size of the palpebral fissures	220	ALDH1A3	OMIM:615113
HP:0200007	Abnormal size of the palpebral fissures	23394	ADNP	OMIM:615873
HP:0200007	Abnormal size of the palpebral fissures	55627	SMPD4	OMIM:618622
HP:0200007	Abnormal size of the palpebral fissures	145173	B3GLCT	ORPHA:709
HP:0200007	Abnormal size of the palpebral fissures	3703	STT3A	OMIM:619714
HP:0200007	Abnormal size of the palpebral fissures	5575	PRKAR1B	OMIM:619680
HP:0200007	Abnormal size of the palpebral fissures	7707	ZNF148	OMIM:617260
HP:0200007	Abnormal size of the palpebral fissures	29072	SETD2	OMIM:620157
HP:0200007	Abnormal size of the palpebral fissures	29072	SETD2	OMIM:620155
HP:0200007	Abnormal size of the palpebral fissures	55780	ERMARD	ORPHA:75857
HP:0200007	Abnormal size of the palpebral fissures	57231	SNX14	ORPHA:397709
HP:0200007	Abnormal size of the palpebral fissures	57231	SNX14	OMIM:616354
HP:0200007	Abnormal size of the palpebral fissures	56992	KIF15	ORPHA:261323
HP:0200007	Abnormal size of the palpebral fissures	3899	AFF3	OMIM:619297
HP:0200007	Abnormal size of the palpebral fissures	54496	PRMT7	OMIM:617157
HP:0200007	Abnormal size of the palpebral fissures	81788	NUAK2	OMIM:619452
HP:0200007	Abnormal size of the palpebral fissures	1108	CHD4	OMIM:617159
HP:0200007	Abnormal size of the palpebral fissures	10459	MAD2L2	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	7516	XRCC2	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	29089	UBE2T	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	675	BRCA2	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	55120	FANCL	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2175	FANCA	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2187	FANCB	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2176	FANCC	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2178	FANCE	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2188	FANCF	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2189	FANCG	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	5888	RAD51	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	5889	RAD51C	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	55159	RFWD3	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	83990	BRIP1	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	57697	FANCM	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	79728	PALB2	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	2072	ERCC4	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	55215	FANCI	ORPHA:84
HP:0200007	Abnormal size of the palpebral fissures	5422	POLA1	OMIM:301030
HP:0200007	Abnormal size of the palpebral fissures	64919	BCL11B	OMIM:618092
HP:0200007	Abnormal size of the palpebral fissures	64919	BCL11B	OMIM:617237
HP:0200007	Abnormal size of the palpebral fissures	3977	LIFR	OMIM:601559
HP:0200007	Abnormal size of the palpebral fissures	26053	AUTS2	ORPHA:352490
HP:0200007	Abnormal size of the palpebral fissures	26053	AUTS2	OMIM:615834
HP:0200007	Abnormal size of the palpebral fissures	84314	TMEM107	OMIM:617563
HP:0200007	Abnormal size of the palpebral fissures	26040	SETBP1	OMIM:616078
HP:0200007	Abnormal size of the palpebral fissures	3188	HNRNPH2	OMIM:300986
HP:0200007	Abnormal size of the palpebral fissures	54551	MAGEL2	OMIM:615547
HP:0200007	Abnormal size of the palpebral fissures	25942	SIN3A	OMIM:613406
HP:0200007	Abnormal size of the palpebral fissures	29980	DONSON	OMIM:251230
HP:0200007	Abnormal size of the palpebral fissures	8241	RBM10	OMIM:311900
HP:0200007	Abnormal size of the palpebral fissures	8241	RBM10	ORPHA:2886
HP:0200007	Abnormal size of the palpebral fissures	29957	SLC25A24	OMIM:612289
HP:0200007	Abnormal size of the palpebral fissures	25885	POLR1A	ORPHA:1200
HP:0200007	Abnormal size of the palpebral fissures	4659	PPP1R12A	OMIM:618820
HP:0200007	Abnormal size of the palpebral fissures	8239	USP9X	ORPHA:480880
HP:0200007	Abnormal size of the palpebral fissures	8239	USP9X	OMIM:300968
HP:0200007	Abnormal size of the palpebral fissures	23137	SMC5	OMIM:620185
HP:0200007	Abnormal size of the palpebral fissures	10236	HNRNPR	OMIM:620073
HP:0200007	Abnormal size of the palpebral fissures	8567	MADD	OMIM:619004
HP:0200007	Abnormal size of the palpebral fissures	8567	MADD	OMIM:619005
HP:0200007	Abnormal size of the palpebral fissures	10472	ZBTB18	OMIM:612337
HP:0200007	Abnormal size of the palpebral fissures	51322	WAC	ORPHA:284169
HP:0200007	Abnormal size of the palpebral fissures	8218	CLTCL1	ORPHA:453510
HP:0200007	Abnormal size of the palpebral fissures	2186	BPTF	OMIM:617755
HP:0200007	Abnormal size of the palpebral fissures	4000	LMNA	ORPHA:1662
HP:0200007	Abnormal size of the palpebral fissures	23219	FBXO28	OMIM:619777
HP:0200007	Abnormal size of the palpebral fissures	55553	SOX6	OMIM:618971
HP:0200007	Abnormal size of the palpebral fissures	23404	EXOSC2	OMIM:617763
HP:0200007	Abnormal size of the palpebral fissures	79228	THOC6	OMIM:613680
HP:0200007	Abnormal size of the palpebral fissures	2702	GJA5	OMIM:612474
HP:0200007	Abnormal size of the palpebral fissures	2703	GJA8	OMIM:612474
HP:0200007	Abnormal size of the palpebral fissures	1642	DDB1	OMIM:619426
HP:0200007	Abnormal size of the palpebral fissures	6664	SOX11	OMIM:615866
HP:0200007	Abnormal size of the palpebral fissures	3516	RBPJ	OMIM:614814
HP:0200007	Abnormal size of the palpebral fissures	3762	KCNJ5	ORPHA:37553
HP:0200007	Abnormal size of the palpebral fissures	23013	SPEN	OMIM:619312
HP:0200007	Abnormal size of the palpebral fissures	55621	TRMT1	OMIM:618302
HP:0200007	Abnormal size of the palpebral fissures	388662	SLC6A17	ORPHA:457212
HP:0200007	Abnormal size of the palpebral fissures	388662	SLC6A17	OMIM:616269
HP:0200007	Abnormal size of the palpebral fissures	10847	SRCAP	OMIM:619595
HP:0200007	Abnormal size of the palpebral fissures	5238	PGM3	ORPHA:443811
HP:0200007	Abnormal size of the palpebral fissures	6134	RPL10	ORPHA:459070
HP:0200007	Abnormal size of the palpebral fissures	11128	POLR3A	OMIM:264090
HP:0200007	Abnormal size of the palpebral fissures	55165	CEP55	OMIM:236500
HP:0200007	Abnormal size of the palpebral fissures	8405	SPOP	OMIM:618828
HP:0200007	Abnormal size of the palpebral fissures	10682	EBP	OMIM:300960
HP:0200007	Abnormal size of the palpebral fissures	7750	ZMYM2	OMIM:619522
HP:0200007	Abnormal size of the palpebral fissures	9578	CDC42BPB	OMIM:619841
HP:0200007	Abnormal size of the palpebral fissures	29998	BICRA	OMIM:619325
HP:0200007	Abnormal size of the palpebral fissures	23030	KDM4B	OMIM:619320
HP:0200007	Abnormal size of the palpebral fissures	30008	EFEMP2	OMIM:614437
HP:0200007	Abnormal size of the palpebral fissures	5831	PYCR1	OMIM:614438
HP:0200007	Abnormal size of the palpebral fissures	118924	FRA10AC1	OMIM:620113
HP:0200007	Abnormal size of the palpebral fissures	26153	KIF26A	OMIM:620156
HP:0200007	Abnormal size of the palpebral fissures	2556	GABRA3	OMIM:301091
HP:0200007	Abnormal size of the palpebral fissures	80267	EDEM3	OMIM:619493
HP:0200007	Abnormal size of the palpebral fissures	23162	MAPK8IP3	OMIM:618443
HP:0200007	Abnormal size of the palpebral fissures	9320	TRIP12	OMIM:617752
HP:0200007	Abnormal size of the palpebral fissures	8913	CACNA1G	OMIM:618087
HP:0200007	Abnormal size of the palpebral fissures	5116	PCNT	ORPHA:2637
HP:0200007	Abnormal size of the palpebral fissures	9969	MED13	OMIM:618009
HP:0200007	Abnormal size of the palpebral fissures	7703	PCGF2	OMIM:618371
HP:0200007	Abnormal size of the palpebral fissures	11133	KPTN	ORPHA:397612
HP:0200007	Abnormal size of the palpebral fissures	1656	DDX6	OMIM:618653
HP:0200007	Abnormal size of the palpebral fissures	55714	TENM3	OMIM:615145
HP:0200007	Abnormal size of the palpebral fissures	26173	INTS1	OMIM:618571
HP:0200007	Abnormal size of the palpebral fissures	80776	B9D2	OMIM:614175
HP:0200007	Abnormal size of the palpebral fissures	5144	PDE4D	ORPHA:439822
HP:0200007	Abnormal size of the palpebral fissures	8550	MAPKAPK5	OMIM:619869
HP:0200007	Abnormal size of the palpebral fissures	196528	ARID2	OMIM:617808
HP:0200007	Abnormal size of the palpebral fissures	57572	DOCK6	OMIM:614219
HP:0200007	Abnormal size of the palpebral fissures	5879	RAC1	ORPHA:500159
HP:0200008	Intestinal polyposis	8313	AXIN2	ORPHA:401911
HP:0200008	Intestinal polyposis	8313	AXIN2	OMIM:608615
HP:0200008	Intestinal polyposis	324	APC	ORPHA:261584
HP:0200008	Intestinal polyposis	324	APC	ORPHA:99818
HP:0200008	Intestinal polyposis	324	APC	OMIM:175100
HP:0200008	Intestinal polyposis	324	APC	ORPHA:247806
HP:0200008	Intestinal polyposis	324	APC	ORPHA:79665
HP:0200008	Intestinal polyposis	54894	RNF43	ORPHA:157798
HP:0200008	Intestinal polyposis	26585	GREM1	ORPHA:157794
HP:0200008	Intestinal polyposis	657	BMPR1A	ORPHA:157794
HP:0200008	Intestinal polyposis	657	BMPR1A	ORPHA:329971
HP:0200008	Intestinal polyposis	657	BMPR1A	OMIM:610069
HP:0200008	Intestinal polyposis	657	BMPR1A	ORPHA:79076
HP:0200008	Intestinal polyposis	4913	NTHL1	ORPHA:454840
HP:0200008	Intestinal polyposis	4913	NTHL1	OMIM:616415
HP:0200008	Intestinal polyposis	4089	SMAD4	ORPHA:329971
HP:0200008	Intestinal polyposis	2022	ENG	ORPHA:329971
HP:0200008	Intestinal polyposis	8930	MBD4	OMIM:619975
HP:0200008	Intestinal polyposis	4595	MUTYH	OMIM:608456
HP:0200008	Intestinal polyposis	4595	MUTYH	ORPHA:247798
HP:0200008	Intestinal polyposis	5426	POLE	ORPHA:447877
HP:0200008	Intestinal polyposis	5424	POLD1	ORPHA:447877
HP:0200008	Intestinal polyposis	4292	MLH1	OMIM:276300
HP:0200008	Intestinal polyposis	5395	PMS2	OMIM:619101
HP:0200008	Intestinal polyposis	4437	MSH3	OMIM:617100
HP:0200008	Intestinal polyposis	4437	MSH3	ORPHA:480536
HP:0200008	Intestinal polyposis	4072	EPCAM	OMIM:613244
HP:0200008	Intestinal polyposis	5728	PTEN	ORPHA:79076
HP:0200008	Intestinal polyposis	201163	FLCN	OMIM:135150
HP:0200008	Intestinal polyposis	27030	MLH3	ORPHA:144
HP:0200008	Intestinal polyposis	22909	FAN1	ORPHA:144
HP:0200008	Intestinal polyposis	7048	TGFBR2	ORPHA:144
HP:0200008	Intestinal polyposis	3845	KRAS	ORPHA:144
HP:0200008	Intestinal polyposis	5290	PIK3CA	ORPHA:144
HP:0200008	Intestinal polyposis	2956	MSH6	ORPHA:144
HP:0200008	Intestinal polyposis	5378	PMS1	ORPHA:144
HP:0200008	Intestinal polyposis	4436	MSH2	ORPHA:144
HP:0200008	Intestinal polyposis	2658	GDF2	ORPHA:774
HP:0200008	Intestinal polyposis	94	ACVRL1	ORPHA:774
HP:0200008	Intestinal polyposis	1499	CTNNB1	ORPHA:873
HP:0200008	Intestinal polyposis	215	ABCD1	ORPHA:388
HP:0200008	Intestinal polyposis	5979	RET	ORPHA:388
HP:0200008	Intestinal polyposis	2668	GDNF	ORPHA:388
HP:0200008	Intestinal polyposis	6608	SMO	ORPHA:388
HP:0200008	Intestinal polyposis	1889	ECE1	ORPHA:388
HP:0200008	Intestinal polyposis	6720	SREBF1	ORPHA:388
HP:0200008	Intestinal polyposis	1908	EDN3	ORPHA:388
HP:0200008	Intestinal polyposis	223117	SEMA3D	ORPHA:388
HP:0200008	Intestinal polyposis	538	ATP7A	ORPHA:388
HP:0200008	Intestinal polyposis	1910	EDNRB	ORPHA:388
HP:0200008	Intestinal polyposis	10512	SEMA3C	ORPHA:388
HP:0200008	Intestinal polyposis	2064	ERBB2	ORPHA:388
HP:0200008	Intestinal polyposis	2065	ERBB3	ORPHA:388
HP:0200008	Intestinal polyposis	4902	NRTN	ORPHA:388
HP:0200008	Intestinal polyposis	9184	BUB3	ORPHA:1052
HP:0200008	Intestinal polyposis	699	BUB1	ORPHA:1052
HP:0200008	Intestinal polyposis	9702	CEP57	ORPHA:1052
HP:0200008	Intestinal polyposis	9319	TRIP13	ORPHA:1052
HP:0200008	Intestinal polyposis	701	BUB1B	ORPHA:1052
HP:0200008	Intestinal polyposis	2778	GNAS	OMIM:174800
HP:0200008	Intestinal polyposis	5156	PDGFRA	OMIM:175510
HP:0200008	Intestinal polyposis	10483	SEC23B	OMIM:616858
HP:0200008	Intestinal polyposis	6390	SDHB	ORPHA:201
HP:0200008	Intestinal polyposis	6392	SDHD	ORPHA:201
HP:0200008	Intestinal polyposis	6391	SDHC	ORPHA:201
HP:0200008	Intestinal polyposis	207	AKT1	ORPHA:201
HP:0200008	Intestinal polyposis	205717	USF3	ORPHA:201
HP:0200008	Intestinal polyposis	100144748	KLLN	ORPHA:201
HP:0200008	Intestinal polyposis	9817	KEAP1	ORPHA:276399
HP:0200008	Intestinal polyposis	23405	DICER1	ORPHA:276399
HP:0200008	Intestinal polyposis	7157	TP53	ORPHA:524
HP:0200008	Intestinal polyposis	1029	CDKN2A	ORPHA:524
HP:0200008	Intestinal polyposis	4193	MDM2	ORPHA:524
HP:0200008	Intestinal polyposis	11200	CHEK2	ORPHA:524
HP:0200011	Abnormal length of corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0200011	Abnormal length of corpus callosum	5162	PDHB	ORPHA:255138
HP:0200011	Abnormal length of corpus callosum	129685	TAF8	OMIM:619972
HP:0200011	Abnormal length of corpus callosum	4047	LSS	ORPHA:2850
HP:0200011	Abnormal length of corpus callosum	197	AHSG	ORPHA:2850
HP:0200011	Abnormal length of corpus callosum	3694	ITGB6	ORPHA:2850
HP:0200012	Short corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0200012	Short corpus callosum	5162	PDHB	ORPHA:255138
HP:0200012	Short corpus callosum	129685	TAF8	OMIM:619972
HP:0200012	Short corpus callosum	4047	LSS	ORPHA:2850
HP:0200012	Short corpus callosum	197	AHSG	ORPHA:2850
HP:0200012	Short corpus callosum	3694	ITGB6	ORPHA:2850
HP:0200013	Neoplasm of fatty tissue	4558	MT-TF	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4567	MT-TL1	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4549	MT-RNR1	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4574	MT-TS1	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4575	MT-TS2	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4571	MT-TP	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4572	MT-TQ	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4540	MT-ND5	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4566	MT-TK	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	4566	MT-TK	ORPHA:1349
HP:0200013	Neoplasm of fatty tissue	4564	MT-TH	ORPHA:551
HP:0200013	Neoplasm of fatty tissue	5290	PIK3CA	ORPHA:276280
HP:0200013	Neoplasm of fatty tissue	4221	MEN1	ORPHA:652
HP:0200013	Neoplasm of fatty tissue	1027	CDKN1B	ORPHA:652
HP:0200013	Neoplasm of fatty tissue	1026	CDKN1A	ORPHA:652
HP:0200013	Neoplasm of fatty tissue	1030	CDKN2B	ORPHA:652
HP:0200013	Neoplasm of fatty tissue	1031	CDKN2C	ORPHA:652
HP:0200013	Neoplasm of fatty tissue	55154	MSTO1	OMIM:617675
HP:0200013	Neoplasm of fatty tissue	161742	SPRED1	OMIM:611431
HP:0200013	Neoplasm of fatty tissue	161742	SPRED1	ORPHA:137605
HP:0200013	Neoplasm of fatty tissue	9927	MFN2	ORPHA:2398
HP:0200013	Neoplasm of fatty tissue	2260	FGFR1	ORPHA:2396
HP:0200013	Neoplasm of fatty tissue	3845	KRAS	ORPHA:2396
HP:0200013	Neoplasm of fatty tissue	324	APC	OMIM:175100
HP:0200013	Neoplasm of fatty tissue	57216	VANGL2	OMIM:182940
HP:0200013	Neoplasm of fatty tissue	6347	CCL2	OMIM:182940
HP:0200013	Neoplasm of fatty tissue	81839	VANGL1	OMIM:182940
HP:0200013	Neoplasm of fatty tissue	6862	TBXT	OMIM:182940
HP:0200013	Neoplasm of fatty tissue	80199	FUZ	OMIM:182940
HP:0200013	Neoplasm of fatty tissue	201163	FLCN	ORPHA:122
HP:0200013	Neoplasm of fatty tissue	201163	FLCN	OMIM:135150
HP:0200013	Neoplasm of fatty tissue	284252	KCTD1	OMIM:181270
HP:0200013	Neoplasm of fatty tissue	1175	AP2S1	OMIM:600740
HP:0200013	Neoplasm of fatty tissue	207	AKT1	OMIM:176920
HP:0200013	Neoplasm of fatty tissue	2767	GNA11	OMIM:145981
HP:0200013	Neoplasm of fatty tissue	5167	ENPP1	ORPHA:758
HP:0200013	Neoplasm of fatty tissue	368	ABCC6	ORPHA:758
HP:0200013	Neoplasm of fatty tissue	23592	LEMD3	ORPHA:1879
HP:0200013	Neoplasm of fatty tissue	5728	PTEN	OMIM:158350
HP:0200013	Neoplasm of fatty tissue	5728	PTEN	ORPHA:2969
HP:0200013	Neoplasm of fatty tissue	5728	PTEN	ORPHA:79076
HP:0200013	Neoplasm of fatty tissue	657	BMPR1A	ORPHA:79076
HP:0200013	Neoplasm of fatty tissue	8092	ALX1	ORPHA:306542
HP:0200013	Neoplasm of fatty tissue	257	ALX3	OMIM:136760
HP:0200013	Neoplasm of fatty tissue	10483	SEC23B	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	6390	SDHB	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	6392	SDHD	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	6391	SDHC	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	205717	USF3	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	100144748	KLLN	ORPHA:201
HP:0200013	Neoplasm of fatty tissue	6872	TAF1	ORPHA:480907
HP:0200013	Neoplasm of fatty tissue	79577	CDC73	ORPHA:143
HP:0200013	Neoplasm of fatty tissue	79577	CDC73	ORPHA:99880
HP:0200013	Neoplasm of fatty tissue	6134	RPL10	ORPHA:435938
HP:0200013	Neoplasm of fatty tissue	57688	ZSWIM6	OMIM:603671
HP:0010602	Type 2 muscle fiber predominance	1185	CLCN6	OMIM:619173
HP:0010602	Type 2 muscle fiber predominance	199857	ALG14	OMIM:619036
HP:0010602	Type 2 muscle fiber predominance	26235	FBXL4	OMIM:615471
HP:0010602	Type 2 muscle fiber predominance	84274	COQ5	OMIM:619028
HP:0010602	Type 2 muscle fiber predominance	5442	POLRMT	OMIM:619743
HP:0010602	Type 2 muscle fiber predominance	339855	KY	OMIM:617114
HP:0010602	Type 2 muscle fiber predominance	1778	DYNC1H1	OMIM:158600
HP:0010603	Odontogenic keratocysts of the jaw	5727	PTCH1	ORPHA:77301
HP:0010603	Odontogenic keratocysts of the jaw	5727	PTCH1	OMIM:109400
HP:0010609	Skin tags	10262	SF3B4	OMIM:154400
HP:0010609	Skin tags	8367	H4C5	OMIM:619950
HP:0010609	Skin tags	8294	H4C9	OMIM:619951
HP:0010609	Skin tags	2138	EYA1	OMIM:113650
HP:0010609	Skin tags	2138	EYA1	ORPHA:107
HP:0010609	Skin tags	2138	EYA1	ORPHA:52429
HP:0010609	Skin tags	6495	SIX1	OMIM:113650
HP:0010609	Skin tags	6495	SIX1	ORPHA:107
HP:0010609	Skin tags	6495	SIX1	ORPHA:52429
HP:0010609	Skin tags	6495	SIX1	OMIM:608389
HP:0010609	Skin tags	2132	EXT2	OMIM:616682
HP:0010609	Skin tags	2335	FN1	ORPHA:93315
HP:0010609	Skin tags	1280	COL2A1	ORPHA:93315
HP:0010609	Skin tags	2972	BRF1	OMIM:616202
HP:0010609	Skin tags	145173	B3GLCT	ORPHA:709
HP:0010609	Skin tags	10992	SF3B2	OMIM:164210
HP:0010609	Skin tags	6299	SALL1	OMIM:107480
HP:0010609	Skin tags	6299	SALL1	ORPHA:857
HP:0010609	Skin tags	374654	KIF7	OMIM:200990
HP:0010609	Skin tags	89910	UBE3B	OMIM:244450
HP:0010609	Skin tags	89910	UBE3B	ORPHA:2707
HP:0010609	Skin tags	8085	KMT2D	ORPHA:2322
HP:0010609	Skin tags	7403	KDM6A	ORPHA:2322
HP:0010609	Skin tags	4953	ODC1	ORPHA:544488
HP:0010609	Skin tags	55636	CHD7	ORPHA:138
HP:0010609	Skin tags	9723	SEMA3E	ORPHA:138
HP:0010609	Skin tags	10735	STAG2	OMIM:301022
HP:0010609	Skin tags	57492	ARID1B	OMIM:135900
HP:0010609	Skin tags	54496	PRMT7	OMIM:617157
HP:0010609	Skin tags	54496	PRMT7	ORPHA:464288
HP:0010609	Skin tags	10265	IRX5	OMIM:611174
HP:0010609	Skin tags	2260	FGFR1	OMIM:190440
HP:0010609	Skin tags	23389	MED13L	ORPHA:369891
HP:0010609	Skin tags	8260	NAA10	ORPHA:568
HP:0010609	Skin tags	54880	BCOR	ORPHA:568
HP:0010609	Skin tags	10943	MSL3	OMIM:301032
HP:0010609	Skin tags	1501	CTNND2	ORPHA:281
HP:0010609	Skin tags	9037	SEMA5A	ORPHA:281
HP:0010609	Skin tags	4041	LRP5	ORPHA:2788
HP:0010609	Skin tags	51729	WBP11	OMIM:619227
HP:0010609	Skin tags	147912	SIX5	OMIM:610896
HP:0010609	Skin tags	147912	SIX5	ORPHA:107
HP:0010609	Skin tags	1906	EDN1	ORPHA:137888
HP:0010609	Skin tags	5332	PLCB4	ORPHA:137888
HP:0010609	Skin tags	2773	GNAI3	ORPHA:137888
HP:0010609	Skin tags	2773	GNAI3	OMIM:602483
HP:0010609	Skin tags	6638	SNRPN	ORPHA:177907
HP:0010609	Skin tags	53834	FGFRL1	OMIM:194190
HP:0010609	Skin tags	1487	CTBP1	OMIM:194190
HP:0010609	Skin tags	3954	LETM1	OMIM:194190
HP:0010609	Skin tags	7468	NSD2	OMIM:194190
HP:0010609	Skin tags	10815	CPLX1	OMIM:194190
HP:0010609	Skin tags	9343	EFTUD2	OMIM:610536
HP:0010609	Skin tags	9343	EFTUD2	ORPHA:79113
HP:0010609	Skin tags	57167	SALL4	ORPHA:233
HP:0010609	Skin tags	9935	MAFB	ORPHA:233
HP:0010609	Skin tags	1123	CHN1	ORPHA:233
HP:0010609	Skin tags	3192	HNRNPU	ORPHA:238769
HP:0010609	Skin tags	157680	VPS13B	ORPHA:193
HP:0010609	Skin tags	8092	ALX1	ORPHA:306542
HP:0010609	Skin tags	94005	PIGS	OMIM:618143
HP:0010609	Skin tags	1909	EDNRA	OMIM:616367
HP:0010609	Skin tags	8364	H4C3	OMIM:619758
HP:0010609	Skin tags	10907	TXNL4A	OMIM:608572
HP:0010609	Skin tags	79759	ZNF668	OMIM:620194
HP:0010609	Skin tags	84172	POLR1B	ORPHA:861
HP:0010609	Skin tags	9533	POLR1C	ORPHA:861
HP:0010609	Skin tags	51082	POLR1D	ORPHA:861
HP:0010609	Skin tags	6949	TCOF1	ORPHA:861
HP:0010609	Skin tags	6949	TCOF1	OMIM:154500
HP:0010609	Skin tags	55617	TASP1	OMIM:618950
HP:0010609	Skin tags	29123	ANKRD11	ORPHA:261250
HP:0010609	Skin tags	79971	WLS	OMIM:619648
HP:0010609	Skin tags	51339	DACT1	ORPHA:857
HP:0010609	Skin tags	54916	TMEM260	OMIM:617478
HP:0010609	Skin tags	374969	SVBP	OMIM:618569
HP:0010609	Skin tags	2317	FLNB	OMIM:272460
HP:0010609	Skin tags	9897	WASHC5	ORPHA:7
HP:0010609	Skin tags	28952	CCDC22	ORPHA:7
HP:0010609	Skin tags	257	ALX3	OMIM:136760
HP:0010609	Skin tags	257	ALX3	ORPHA:391474
HP:0010609	Skin tags	6595	SMARCA2	OMIM:601358
HP:0010609	Skin tags	3845	KRAS	OMIM:600268
HP:0010609	Skin tags	2719	GPC3	OMIM:312870
HP:0010609	Skin tags	2239	GPC4	OMIM:312870
HP:0010609	Skin tags	201163	FLCN	ORPHA:122
HP:0010609	Skin tags	22827	PUF60	ORPHA:508488
HP:0010609	Skin tags	5728	PTEN	OMIM:158350
HP:0010609	Skin tags	286053	NSMCE2	OMIM:617253
HP:0010609	Skin tags	2261	FGFR3	OMIM:616482
HP:0010609	Skin tags	54101	RIPK4	OMIM:263650
HP:0010609	Skin tags	5290	PIK3CA	OMIM:615108
HP:0010609	Skin tags	2263	FGFR2	OMIM:123790
HP:0010609	Skin tags	207	AKT1	OMIM:615109
HP:0010609	Skin tags	84168	ANTXR1	ORPHA:2067
HP:0010609	Skin tags	9968	MED12	OMIM:305450
HP:0010609	Skin tags	2248	FGF3	ORPHA:90024
HP:0010609	Skin tags	2248	FGF3	OMIM:610706
HP:0010609	Skin tags	5727	PTCH1	OMIM:109400
HP:0200018	Protanomaly	5956	OPN1LW	OMIM:303900
HP:0200016	Acrokeratosis	488	ATP2A2	OMIM:101900
HP:0200016	Acrokeratosis	488	ATP2A2	ORPHA:218
HP:0200016	Acrokeratosis	488	ATP2A2	OMIM:124200
HP:0200016	Acrokeratosis	5728	PTEN	OMIM:158350
HP:0200016	Acrokeratosis	5728	PTEN	ORPHA:65285
HP:0200016	Acrokeratosis	84946	LTV1	OMIM:620199
HP:0200020	Corneal erosion	8518	ELP1	OMIM:223900
HP:0200020	Corneal erosion	7045	TGFBI	ORPHA:98960
HP:0200020	Corneal erosion	7045	TGFBI	OMIM:121820
HP:0200020	Corneal erosion	7045	TGFBI	ORPHA:98962
HP:0200020	Corneal erosion	7045	TGFBI	ORPHA:98963
HP:0200020	Corneal erosion	7045	TGFBI	OMIM:122200
HP:0200020	Corneal erosion	7045	TGFBI	ORPHA:98964
HP:0200020	Corneal erosion	1497	CTNS	OMIM:219800
HP:0200020	Corneal erosion	51360	MBTPS2	OMIM:308205
HP:0200020	Corneal erosion	4166	CHST6	OMIM:217800
HP:0200020	Corneal erosion	4166	CHST6	ORPHA:98969
HP:0200020	Corneal erosion	2303	FOXC2	OMIM:153400
HP:0200020	Corneal erosion	4358	MPV17	OMIM:256810
HP:0200020	Corneal erosion	2263	FGFR2	OMIM:149730
HP:0200020	Corneal erosion	2263	FGFR2	ORPHA:2363
HP:0200020	Corneal erosion	4914	NTRK1	OMIM:256800
HP:0200020	Corneal erosion	2706	GJB2	OMIM:148210
HP:0200020	Corneal erosion	2261	FGFR3	ORPHA:2363
HP:0200020	Corneal erosion	2255	FGF10	ORPHA:2363
HP:0200020	Corneal erosion	3850	KRT3	OMIM:618767
HP:0200020	Corneal erosion	1308	COL17A1	ORPHA:293381
HP:0200020	Corneal erosion	10804	GJB6	ORPHA:477
HP:0200020	Corneal erosion	4072	EPCAM	ORPHA:92050
HP:0200020	Corneal erosion	105371045	PERCC1	ORPHA:92050
HP:0200020	Corneal erosion	3106	HLA-B	ORPHA:36426
HP:0200020	Corneal erosion	10320	IKZF1	ORPHA:36426
HP:0200020	Corneal erosion	8218	CLTCL1	ORPHA:453510
HP:0200020	Corneal erosion	26128	KIFBP	OMIM:609460
HP:0200020	Corneal erosion	1285	COL4A3	OMIM:203780
HP:0200020	Corneal erosion	1286	COL4A4	OMIM:203780
HP:0200020	Corneal erosion	1634	DCN	OMIM:610048
HP:0200020	Corneal erosion	117581	TWIST2	ORPHA:920
HP:0200020	Corneal erosion	10653	SPINT2	OMIM:270420
HP:0200020	Corneal erosion	55630	SLC39A4	ORPHA:37
HP:0200020	Corneal erosion	4312	MMP1	ORPHA:79408
HP:0200020	Corneal erosion	1294	COL7A1	ORPHA:79408
HP:0200020	Corneal erosion	1294	COL7A1	ORPHA:79409
HP:0200020	Corneal erosion	1294	COL7A1	ORPHA:89842
HP:0200020	Corneal erosion	8626	TP63	ORPHA:1896
HP:0200020	Corneal erosion	55612	FERMT1	OMIM:173650
HP:0200020	Corneal erosion	224	ALDH3A2	ORPHA:816
HP:0200020	Corneal erosion	5336	PLCG2	OMIM:614878
HP:0200020	Corneal erosion	242	ALOX12B	ORPHA:79394
HP:0200020	Corneal erosion	204219	CERS3	ORPHA:79394
HP:0200020	Corneal erosion	26154	ABCA12	ORPHA:79394
HP:0200020	Corneal erosion	285848	PNPLA1	ORPHA:79394
HP:0200020	Corneal erosion	59344	ALOXE3	ORPHA:79394
HP:0200020	Corneal erosion	348938	NIPAL4	ORPHA:79394
HP:0200020	Corneal erosion	7051	TGM1	ORPHA:79394
HP:0200020	Corneal erosion	1287	COL4A5	OMIM:301050
HP:0200020	Corneal erosion	7490	WT1	OMIM:106210
HP:0200020	Corneal erosion	5080	PAX6	OMIM:106210
HP:0200020	Corneal erosion	11107	PRDM5	ORPHA:90354
HP:0200020	Corneal erosion	84627	ZNF469	ORPHA:90354
HP:0200022	Choroid plexus papilloma	7157	TP53	OMIM:260500
HP:0200022	Choroid plexus papilloma	7157	TP53	ORPHA:2807
HP:0200022	Choroid plexus papilloma	4893	NRAS	OMIM:249400
HP:0200023	Priapism	3043	HBB	OMIM:603903
HP:0200024	Premature chromatid separation	157570	ESCO2	OMIM:268300
HP:0200024	Premature chromatid separation	7248	TSC1	OMIM:191100
HP:0200024	Premature chromatid separation	701	BUB1B	OMIM:176430
HP:0200024	Premature chromatid separation	701	BUB1B	OMIM:257300
HP:0200024	Premature chromatid separation	9319	TRIP13	OMIM:617598
HP:0200025	Mandibular pain	4041	LRP5	OMIM:607634
HP:0200025	Mandibular pain	79577	CDC73	ORPHA:143
HP:0200025	Mandibular pain	79577	CDC73	ORPHA:99880
HP:0200025	Mandibular pain	6335	SCN9A	OMIM:167400
HP:0010610	Palmar pits	5727	PTCH1	ORPHA:77301
HP:0010610	Palmar pits	5727	PTCH1	ORPHA:377
HP:0010610	Palmar pits	5727	PTCH1	OMIM:109400
HP:0010610	Palmar pits	8643	PTCH2	ORPHA:377
HP:0010610	Palmar pits	51684	SUFU	ORPHA:377
HP:0010610	Palmar pits	10519	CIB1	OMIM:618267
HP:0010610	Palmar pits	56983	POGLUT1	ORPHA:79145
HP:0010610	Palmar pits	3852	KRT5	ORPHA:79145
HP:0010610	Palmar pits	23509	POFUT1	ORPHA:79145
HP:0010610	Palmar pits	55851	PSENEN	ORPHA:79145
HP:0010610	Palmar pits	488	ATP2A2	OMIM:124200
HP:0010612	Plantar pits	5727	PTCH1	ORPHA:77301
HP:0010612	Plantar pits	5727	PTCH1	ORPHA:377
HP:0010612	Plantar pits	5727	PTCH1	OMIM:109400
HP:0010612	Plantar pits	8643	PTCH2	ORPHA:377
HP:0010612	Plantar pits	51684	SUFU	ORPHA:377
HP:0010612	Plantar pits	488	ATP2A2	ORPHA:218
HP:0010612	Plantar pits	488	ATP2A2	OMIM:124200
HP:0010614	Fibroma	6654	SOS1	OMIM:135300
HP:0010614	Fibroma	6654	SOS1	ORPHA:2024
HP:0010614	Fibroma	1718	DHCR24	OMIM:602398
HP:0010614	Fibroma	118429	ANTXR2	OMIM:228600
HP:0010614	Fibroma	118429	ANTXR2	ORPHA:2028
HP:0010614	Fibroma	23461	ABCA5	OMIM:135400
HP:0010614	Fibroma	23461	ABCA5	ORPHA:2026
HP:0010614	Fibroma	54757	FAM20A	OMIM:204690
HP:0010614	Fibroma	3756	KCNH1	OMIM:135500
HP:0010614	Fibroma	3756	KCNH1	ORPHA:3473
HP:0010614	Fibroma	63916	ELMO2	ORPHA:3019
HP:0010614	Fibroma	5978	REST	ORPHA:2024
HP:0010614	Fibroma	5978	REST	OMIM:617626
HP:0010614	Fibroma	526	ATP6V1B2	ORPHA:3473
HP:0010614	Fibroma	3782	KCNN3	ORPHA:3473
HP:0010614	Fibroma	56975	FAM20C	ORPHA:1832
HP:0010614	Fibroma	3815	KIT	OMIM:606764
HP:0010614	Fibroma	6711	SPTBN1	OMIM:619475
HP:0010614	Fibroma	161742	SPRED1	OMIM:611431
HP:0010614	Fibroma	161742	SPRED1	ORPHA:137605
HP:0010614	Fibroma	8314	BAP1	ORPHA:2495
HP:0010614	Fibroma	4771	NF2	ORPHA:2495
HP:0010614	Fibroma	6598	SMARCB1	ORPHA:2495
HP:0010614	Fibroma	5155	PDGFB	ORPHA:2495
HP:0010614	Fibroma	84231	TRAF7	ORPHA:2495
HP:0010614	Fibroma	6608	SMO	ORPHA:2495
HP:0010614	Fibroma	7015	TERT	ORPHA:2495
HP:0010614	Fibroma	51684	SUFU	ORPHA:2495
HP:0010614	Fibroma	6605	SMARCE1	ORPHA:2495
HP:0010614	Fibroma	4035	LRP1	ORPHA:79100
HP:0010614	Fibroma	4763	NF1	OMIM:162210
HP:0010614	Fibroma	4292	MLH1	OMIM:158320
HP:0010614	Fibroma	4292	MLH1	ORPHA:587
HP:0010614	Fibroma	4436	MSH2	OMIM:158320
HP:0010614	Fibroma	4436	MSH2	ORPHA:587
HP:0010614	Fibroma	3265	HRAS	ORPHA:2612
HP:0010614	Fibroma	3845	KRAS	ORPHA:2612
HP:0010614	Fibroma	4893	NRAS	ORPHA:2612
HP:0010614	Fibroma	7249	TSC2	OMIM:613254
HP:0010614	Fibroma	3458	IFNG	OMIM:613254
HP:0010614	Fibroma	2956	MSH6	ORPHA:587
HP:0010614	Fibroma	10483	SEC23B	ORPHA:201
HP:0010614	Fibroma	5728	PTEN	ORPHA:201
HP:0010614	Fibroma	6390	SDHB	ORPHA:201
HP:0010614	Fibroma	6392	SDHD	ORPHA:201
HP:0010614	Fibroma	6391	SDHC	ORPHA:201
HP:0010614	Fibroma	207	AKT1	ORPHA:201
HP:0010614	Fibroma	205717	USF3	ORPHA:201
HP:0010614	Fibroma	5290	PIK3CA	ORPHA:201
HP:0010614	Fibroma	100144748	KLLN	ORPHA:201
HP:0010614	Fibroma	5333	PLCD1	ORPHA:2387
HP:0010614	Fibroma	7248	TSC1	OMIM:191100
HP:0010614	Fibroma	4221	MEN1	OMIM:131100
HP:0010614	Fibroma	3872	KRT17	ORPHA:841
HP:0010614	Fibroma	5159	PDGFRB	OMIM:228550
HP:0010614	Fibroma	5159	PDGFRB	ORPHA:2591
HP:0010614	Fibroma	1499	CTNNB1	ORPHA:873
HP:0010614	Fibroma	2316	FLNA	OMIM:300244
HP:0010614	Fibroma	79577	CDC73	ORPHA:143
HP:0010614	Fibroma	79577	CDC73	ORPHA:99880
HP:0010614	Fibroma	4854	NOTCH3	ORPHA:2591
HP:0010614	Fibroma	1288	COL4A6	ORPHA:1018
HP:0010614	Fibroma	1287	COL4A5	ORPHA:1018
HP:0010614	Fibroma	3572	IL6ST	OMIM:619750
HP:0010614	Fibroma	1027	CDKN1B	ORPHA:652
HP:0010614	Fibroma	1027	CDKN1B	ORPHA:276152
HP:0010614	Fibroma	1026	CDKN1A	ORPHA:652
HP:0010614	Fibroma	1030	CDKN2B	ORPHA:652
HP:0010614	Fibroma	1031	CDKN2C	ORPHA:652
HP:0010614	Fibroma	5727	PTCH1	ORPHA:77301
HP:0010614	Fibroma	5727	PTCH1	OMIM:109400
HP:0010614	Fibroma	5618	PRLR	OMIM:615554
HP:0010614	Fibroma	5566	PRKACA	ORPHA:189439
HP:0010614	Fibroma	8622	PDE8B	ORPHA:189439
HP:0010614	Fibroma	5573	PRKAR1A	ORPHA:189439
HP:0010614	Fibroma	5573	PRKAR1A	ORPHA:1359
HP:0010614	Fibroma	50940	PDE11A	ORPHA:189439
HP:0010614	Fibroma	50940	PDE11A	ORPHA:1359
HP:0010614	Fibroma	355	FAS	ORPHA:3261
HP:0010614	Fibroma	356	FASLG	ORPHA:3261
HP:0010614	Fibroma	5580	PRKCD	ORPHA:3261
HP:0010614	Fibroma	843	CASP10	ORPHA:3261
HP:0010614	Fibroma	10125	RASGRP1	ORPHA:3261
HP:0010614	Fibroma	324	APC	OMIM:175100
HP:0010614	Fibroma	324	APC	ORPHA:247806
HP:0010614	Fibroma	89970	RSPRY1	ORPHA:457395
HP:0010614	Fibroma	4595	MUTYH	ORPHA:247798
HP:0010614	Fibroma	26585	GREM1	ORPHA:157794
HP:0010614	Fibroma	657	BMPR1A	ORPHA:157794
HP:0010615	Angiofibromas	4292	MLH1	OMIM:158320
HP:0010615	Angiofibromas	4292	MLH1	ORPHA:587
HP:0010615	Angiofibromas	4436	MSH2	OMIM:158320
HP:0010615	Angiofibromas	4436	MSH2	ORPHA:587
HP:0010615	Angiofibromas	3265	HRAS	ORPHA:2612
HP:0010615	Angiofibromas	3845	KRAS	ORPHA:2612
HP:0010615	Angiofibromas	4893	NRAS	ORPHA:2612
HP:0010615	Angiofibromas	2956	MSH6	ORPHA:587
HP:0010615	Angiofibromas	10483	SEC23B	ORPHA:201
HP:0010615	Angiofibromas	5728	PTEN	ORPHA:201
HP:0010615	Angiofibromas	6390	SDHB	ORPHA:201
HP:0010615	Angiofibromas	6392	SDHD	ORPHA:201
HP:0010615	Angiofibromas	6391	SDHC	ORPHA:201
HP:0010615	Angiofibromas	207	AKT1	ORPHA:201
HP:0010615	Angiofibromas	205717	USF3	ORPHA:201
HP:0010615	Angiofibromas	5290	PIK3CA	ORPHA:201
HP:0010615	Angiofibromas	100144748	KLLN	ORPHA:201
HP:0010615	Angiofibromas	5333	PLCD1	ORPHA:2387
HP:0010615	Angiofibromas	3872	KRT17	ORPHA:841
HP:0010615	Angiofibromas	7249	TSC2	OMIM:613254
HP:0010615	Angiofibromas	7249	TSC2	ORPHA:805
HP:0010615	Angiofibromas	3458	IFNG	OMIM:613254
HP:0010615	Angiofibromas	3458	IFNG	ORPHA:805
HP:0010615	Angiofibromas	4221	MEN1	ORPHA:652
HP:0010615	Angiofibromas	1027	CDKN1B	ORPHA:652
HP:0010615	Angiofibromas	1027	CDKN1B	ORPHA:276152
HP:0010615	Angiofibromas	1026	CDKN1A	ORPHA:652
HP:0010615	Angiofibromas	1030	CDKN2B	ORPHA:652
HP:0010615	Angiofibromas	1031	CDKN2C	ORPHA:652
HP:0010615	Angiofibromas	7248	TSC1	ORPHA:805
HP:0010617	Cardiac fibroma	5727	PTCH1	ORPHA:77301
HP:0010617	Cardiac fibroma	5727	PTCH1	OMIM:109400
HP:0010618	Ovarian fibroma	5727	PTCH1	ORPHA:77301
HP:0010618	Ovarian fibroma	5727	PTCH1	OMIM:109400
HP:0010619	Fibroadenoma of the breast	5618	PRLR	OMIM:615554
HP:0010619	Fibroadenoma of the breast	5566	PRKACA	ORPHA:189439
HP:0010619	Fibroadenoma of the breast	8622	PDE8B	ORPHA:189439
HP:0010619	Fibroadenoma of the breast	5573	PRKAR1A	ORPHA:189439
HP:0010619	Fibroadenoma of the breast	5573	PRKAR1A	ORPHA:1359
HP:0010619	Fibroadenoma of the breast	50940	PDE11A	ORPHA:189439
HP:0010619	Fibroadenoma of the breast	50940	PDE11A	ORPHA:1359
HP:0010619	Fibroadenoma of the breast	207	AKT1	OMIM:615109
HP:0010619	Fibroadenoma of the breast	5728	PTEN	OMIM:158350
HP:0010619	Fibroadenoma of the breast	5728	PTEN	ORPHA:65285
HP:0010619	Fibroadenoma of the breast	355	FAS	ORPHA:3261
HP:0010619	Fibroadenoma of the breast	356	FASLG	ORPHA:3261
HP:0010619	Fibroadenoma of the breast	5580	PRKCD	ORPHA:3261
HP:0010619	Fibroadenoma of the breast	843	CASP10	ORPHA:3261
HP:0010619	Fibroadenoma of the breast	10125	RASGRP1	ORPHA:3261
HP:0010619	Fibroadenoma of the breast	324	APC	OMIM:175100
HP:0010619	Fibroadenoma of the breast	324	APC	ORPHA:247806
HP:0200026	Ocular pain	123624	AGBL1	ORPHA:98974
HP:0200026	Ocular pain	6925	TCF4	ORPHA:98974
HP:0200026	Ocular pain	83959	SLC4A11	ORPHA:98974
HP:0200026	Ocular pain	4166	CHST6	ORPHA:98969
HP:0200026	Ocular pain	6335	SCN9A	OMIM:167400
HP:0200026	Ocular pain	1308	COL17A1	ORPHA:293381
HP:0200026	Ocular pain	1308	COL17A1	OMIM:122400
HP:0200026	Ocular pain	8314	BAP1	ORPHA:39044
HP:0200026	Ocular pain	57105	CYSLTR2	ORPHA:39044
HP:0200026	Ocular pain	2776	GNAQ	ORPHA:39044
HP:0200026	Ocular pain	2767	GNA11	ORPHA:39044
HP:0200026	Ocular pain	23451	SF3B1	ORPHA:39044
HP:0200026	Ocular pain	7045	TGFBI	ORPHA:98962
HP:0200026	Ocular pain	7045	TGFBI	ORPHA:98964
HP:0200026	Ocular pain	7045	TGFBI	ORPHA:98960
HP:0200026	Ocular pain	1497	CTNS	ORPHA:411634
HP:0200026	Ocular pain	23516	SLC39A14	OMIM:144755
HP:0200026	Ocular pain	6935	ZEB1	ORPHA:98973
HP:0200026	Ocular pain	30813	VSX1	ORPHA:98973
HP:0200026	Ocular pain	58495	OVOL2	ORPHA:98973
HP:0200026	Ocular pain	79977	GRHL2	ORPHA:98973
HP:0200026	Ocular pain	1296	COL8A2	ORPHA:98973
HP:0200029	Vasculitis in the skin	6850	SYK	OMIM:619381
HP:0200029	Vasculitis in the skin	5238	PGM3	ORPHA:443811
HP:0200029	Vasculitis in the skin	5238	PGM3	OMIM:615816
HP:0200029	Vasculitis in the skin	10095	ARPC1B	OMIM:617718
HP:0200029	Vasculitis in the skin	3594	IL12RB1	ORPHA:319552
HP:0200029	Vasculitis in the skin	11277	TREX1	OMIM:192315
HP:0200028	Pretibial myxedema	7253	TSHR	OMIM:609152
HP:0200028	Pretibial myxedema	5449	POU1F1	OMIM:613038
HP:0010625	Anterior pituitary dysgenesis	5456	POU3F4	ORPHA:1435
HP:0010625	Anterior pituitary dysgenesis	2627	GATA6	ORPHA:2255
HP:0010625	Anterior pituitary dysgenesis	6496	SIX3	OMIM:157170
HP:0010625	Anterior pituitary dysgenesis	8820	HESX1	OMIM:182230
HP:0010625	Anterior pituitary dysgenesis	8820	HESX1	ORPHA:226307
HP:0010625	Anterior pituitary dysgenesis	8820	HESX1	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	8820	HESX1	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	55599	RNPC3	OMIM:618160
HP:0010625	Anterior pituitary dysgenesis	4841	NONO	ORPHA:466791
HP:0010625	Anterior pituitary dysgenesis	9791	PTDSS1	OMIM:151050
HP:0010625	Anterior pituitary dysgenesis	55131	RBM28	ORPHA:157954
HP:0010625	Anterior pituitary dysgenesis	6638	SNRPN	ORPHA:177904
HP:0010625	Anterior pituitary dysgenesis	6638	SNRPN	ORPHA:177901
HP:0010625	Anterior pituitary dysgenesis	6638	SNRPN	ORPHA:177907
HP:0010625	Anterior pituitary dysgenesis	6638	SNRPN	ORPHA:98754
HP:0010625	Anterior pituitary dysgenesis	4692	NDN	ORPHA:177904
HP:0010625	Anterior pituitary dysgenesis	4692	NDN	ORPHA:177901
HP:0010625	Anterior pituitary dysgenesis	4692	NDN	ORPHA:98754
HP:0010625	Anterior pituitary dysgenesis	54551	MAGEL2	ORPHA:177904
HP:0010625	Anterior pituitary dysgenesis	54551	MAGEL2	ORPHA:177901
HP:0010625	Anterior pituitary dysgenesis	54551	MAGEL2	ORPHA:98754
HP:0010625	Anterior pituitary dysgenesis	4948	OCA2	ORPHA:177904
HP:0010625	Anterior pituitary dysgenesis	4948	OCA2	ORPHA:177901
HP:0010625	Anterior pituitary dysgenesis	4948	OCA2	ORPHA:98754
HP:0010625	Anterior pituitary dysgenesis	79989	IFT56	OMIM:619534
HP:0010625	Anterior pituitary dysgenesis	23312	DMXL2	ORPHA:453533
HP:0010625	Anterior pituitary dysgenesis	23312	DMXL2	OMIM:616113
HP:0010625	Anterior pituitary dysgenesis	5626	PROP1	ORPHA:226307
HP:0010625	Anterior pituitary dysgenesis	5626	PROP1	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	5626	PROP1	ORPHA:90695
HP:0010625	Anterior pituitary dysgenesis	89884	LHX4	ORPHA:226307
HP:0010625	Anterior pituitary dysgenesis	89884	LHX4	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	8022	LHX3	ORPHA:226307
HP:0010625	Anterior pituitary dysgenesis	8022	LHX3	OMIM:221750
HP:0010625	Anterior pituitary dysgenesis	8022	LHX3	ORPHA:231720
HP:0010625	Anterior pituitary dysgenesis	5449	POU1F1	ORPHA:226307
HP:0010625	Anterior pituitary dysgenesis	5449	POU1F1	OMIM:613038
HP:0010625	Anterior pituitary dysgenesis	5449	POU1F1	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	2688	GH1	OMIM:173100
HP:0010625	Anterior pituitary dysgenesis	57688	ZSWIM6	ORPHA:1827
HP:0010625	Anterior pituitary dysgenesis	2736	GLI2	OMIM:610829
HP:0010625	Anterior pituitary dysgenesis	2736	GLI2	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	2736	GLI2	OMIM:615849
HP:0010625	Anterior pituitary dysgenesis	3170	FOXA2	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	5015	OTX2	ORPHA:95494
HP:0010625	Anterior pituitary dysgenesis	5015	OTX2	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	4524	MTHFR	ORPHA:563612
HP:0010625	Anterior pituitary dysgenesis	57216	VANGL2	ORPHA:563612
HP:0010625	Anterior pituitary dysgenesis	6926	TBX3	OMIM:181450
HP:0010625	Anterior pituitary dysgenesis	8567	MADD	OMIM:619004
HP:0010625	Anterior pituitary dysgenesis	2692	GHRHR	OMIM:618157
HP:0010625	Anterior pituitary dysgenesis	283987	HID1	OMIM:619983
HP:0010625	Anterior pituitary dysgenesis	6658	SOX3	ORPHA:67045
HP:0010625	Anterior pituitary dysgenesis	6658	SOX3	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	6658	SOX3	ORPHA:90695
HP:0010625	Anterior pituitary dysgenesis	9578	CDC42BPB	OMIM:619841
HP:0010625	Anterior pituitary dysgenesis	9915	ARNT2	OMIM:615926
HP:0010625	Anterior pituitary dysgenesis	9915	ARNT2	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	4990	SIX6	OMIM:206900
HP:0010625	Anterior pituitary dysgenesis	6657	SOX2	OMIM:206900
HP:0010625	Anterior pituitary dysgenesis	6657	SOX2	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	2260	FGFR1	ORPHA:3157
HP:0010625	Anterior pituitary dysgenesis	128674	PROKR2	ORPHA:3157
HP:0010626	Anterior pituitary agenesis	2736	GLI2	OMIM:610829
HP:0010626	Anterior pituitary agenesis	2736	GLI2	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	2627	GATA6	ORPHA:2255
HP:0010626	Anterior pituitary agenesis	5626	PROP1	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	89884	LHX4	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	3170	FOXA2	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	5449	POU1F1	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	8820	HESX1	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	5015	OTX2	ORPHA:95494
HP:0010626	Anterior pituitary agenesis	6496	SIX3	OMIM:157170
HP:0010622	Neoplasm of the skeletal system	9401	RECQL4	OMIM:268400
HP:0010622	Neoplasm of the skeletal system	9401	RECQL4	ORPHA:1225
HP:0010622	Neoplasm of the skeletal system	9401	RECQL4	ORPHA:221016
HP:0010622	Neoplasm of the skeletal system	55027	HEATR3	OMIM:620072
HP:0010622	Neoplasm of the skeletal system	6135	RPL11	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6138	RPL15	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6229	RPS24	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6125	RPL5	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6204	RPS10	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6165	RPL35A	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	2623	GATA1	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6223	RPS19	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6223	RPS19	OMIM:105650
HP:0010622	Neoplasm of the skeletal system	6232	RPS27	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6231	RPS26	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	11224	RPL35	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6160	RPL31	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6218	RPS17	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6201	RPS7	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6155	RPL27	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6154	RPL26	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6210	RPS15A	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	90121	TSR2	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6141	RPL18	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6235	RPS29	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	6234	RPS28	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	51816	ADA2	ORPHA:124
HP:0010622	Neoplasm of the skeletal system	4507	MTAP	OMIM:112250
HP:0010622	Neoplasm of the skeletal system	7157	TP53	OMIM:151623
HP:0010622	Neoplasm of the skeletal system	7157	TP53	OMIM:260500
HP:0010622	Neoplasm of the skeletal system	7157	TP53	ORPHA:524
HP:0010622	Neoplasm of the skeletal system	7157	TP53	OMIM:259500
HP:0010622	Neoplasm of the skeletal system	8878	SQSTM1	OMIM:167250
HP:0010622	Neoplasm of the skeletal system	7486	WRN	OMIM:277700
HP:0010622	Neoplasm of the skeletal system	4000	LMNA	ORPHA:79474
HP:0010622	Neoplasm of the skeletal system	5925	RB1	OMIM:180200
HP:0010622	Neoplasm of the skeletal system	5925	RB1	OMIM:259500
HP:0010622	Neoplasm of the skeletal system	1029	CDKN2A	ORPHA:524
HP:0010622	Neoplasm of the skeletal system	4193	MDM2	ORPHA:524
HP:0010622	Neoplasm of the skeletal system	11200	CHEK2	ORPHA:524
HP:0010622	Neoplasm of the skeletal system	11200	CHEK2	OMIM:259500
HP:0010622	Neoplasm of the skeletal system	64682	ANAPC1	ORPHA:221008
HP:0010622	Neoplasm of the skeletal system	2131	EXT1	OMIM:133700
HP:0010622	Neoplasm of the skeletal system	2132	EXT2	OMIM:133701
HP:0010622	Neoplasm of the skeletal system	4488	MSX2	ORPHA:60015
HP:0010622	Neoplasm of the skeletal system	60529	ALX4	ORPHA:60015
HP:0010622	Neoplasm of the skeletal system	6473	SHOX	OMIM:127300
HP:0010622	Neoplasm of the skeletal system	538	ATP7A	OMIM:304150
HP:0010622	Neoplasm of the skeletal system	1146	CHRNG	OMIM:265000
HP:0010622	Neoplasm of the skeletal system	10526	IPO8	OMIM:619472
HP:0010622	Neoplasm of the skeletal system	7227	TRPS1	ORPHA:502
HP:0010622	Neoplasm of the skeletal system	5781	PTPN11	OMIM:156250
HP:0010622	Neoplasm of the skeletal system	84172	POLR1B	ORPHA:861
HP:0010622	Neoplasm of the skeletal system	9533	POLR1C	ORPHA:861
HP:0010622	Neoplasm of the skeletal system	51082	POLR1D	ORPHA:861
HP:0010622	Neoplasm of the skeletal system	6949	TCOF1	ORPHA:861
HP:0010622	Neoplasm of the skeletal system	3418	IDH2	ORPHA:163634
HP:0010622	Neoplasm of the skeletal system	3418	IDH2	ORPHA:296
HP:0010622	Neoplasm of the skeletal system	3417	IDH1	ORPHA:163634
HP:0010622	Neoplasm of the skeletal system	3417	IDH1	ORPHA:296
HP:0010622	Neoplasm of the skeletal system	3417	IDH1	ORPHA:99646
HP:0010622	Neoplasm of the skeletal system	5745	PTH1R	ORPHA:296
HP:0010622	Neoplasm of the skeletal system	8148	TAF15	OMIM:612237
HP:0010622	Neoplasm of the skeletal system	8013	NR4A3	OMIM:612237
HP:0010622	Neoplasm of the skeletal system	64218	SEMA4A	ORPHA:440437
HP:0010622	Neoplasm of the skeletal system	657	BMPR1A	ORPHA:440437
HP:0010622	Neoplasm of the skeletal system	6224	RPS20	ORPHA:440437
HP:0010622	Neoplasm of the skeletal system	4072	EPCAM	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	4292	MLH1	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	5395	PMS2	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	27030	MLH3	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	22909	FAN1	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	7048	TGFBR2	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	3845	KRAS	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	3845	KRAS	ORPHA:2396
HP:0010622	Neoplasm of the skeletal system	5290	PIK3CA	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	2956	MSH6	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	5378	PMS1	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	4436	MSH2	ORPHA:144
HP:0010622	Neoplasm of the skeletal system	2260	FGFR1	ORPHA:2396
HP:0010622	Neoplasm of the skeletal system	7373	COL14A1	ORPHA:79501
HP:0010622	Neoplasm of the skeletal system	79719	AAGAB	ORPHA:79501
HP:0010622	Neoplasm of the skeletal system	7249	TSC2	OMIM:613254
HP:0010622	Neoplasm of the skeletal system	3458	IFNG	OMIM:613254
HP:0010622	Neoplasm of the skeletal system	7248	TSC1	OMIM:191100
HP:0010622	Neoplasm of the skeletal system	64840	PORCN	ORPHA:2092
HP:0010622	Neoplasm of the skeletal system	10535	RNASEH2A	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	84153	RNASEH2C	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	25939	SAMHD1	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	79621	RNASEH2B	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	103	ADAR	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	11277	TREX1	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	100147744	RNU7-1	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	134353	LSM11	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	64135	IFIH1	ORPHA:51
HP:0010622	Neoplasm of the skeletal system	54	ACP5	ORPHA:1855
HP:0010622	Neoplasm of the skeletal system	5573	PRKAR1A	ORPHA:1359
HP:0010622	Neoplasm of the skeletal system	50940	PDE11A	ORPHA:1359
HP:0010622	Neoplasm of the skeletal system	2737	GLI3	ORPHA:672
HP:0010622	Neoplasm of the skeletal system	1280	COL2A1	OMIM:609162
HP:0010622	Neoplasm of the skeletal system	2261	FGFR3	OMIM:610474
HP:0010622	Neoplasm of the skeletal system	55553	SOX6	OMIM:618971
HP:0010622	Neoplasm of the skeletal system	4773	NFATC2	OMIM:620232
HP:0010622	Neoplasm of the skeletal system	324	APC	OMIM:175100
HP:0010622	Neoplasm of the skeletal system	324	APC	ORPHA:247806
HP:0010622	Neoplasm of the skeletal system	324	APC	ORPHA:261584
HP:0010622	Neoplasm of the skeletal system	324	APC	ORPHA:79665
HP:0010622	Neoplasm of the skeletal system	5885	RAD21	OMIM:614701
HP:0010622	Neoplasm of the skeletal system	176	ACAN	OMIM:165800
HP:0010622	Neoplasm of the skeletal system	5728	PTEN	ORPHA:744
HP:0010622	Neoplasm of the skeletal system	5728	PTEN	ORPHA:2969
HP:0010622	Neoplasm of the skeletal system	207	AKT1	ORPHA:744
HP:0010622	Neoplasm of the skeletal system	51317	PHF21A	ORPHA:52022
HP:0010622	Neoplasm of the skeletal system	1302	COL11A2	ORPHA:166100
HP:0200037	Skin vesicle	5339	PLEC	ORPHA:257
HP:0200037	Skin vesicle	3852	KRT5	ORPHA:158681
HP:0200037	Skin vesicle	3852	KRT5	ORPHA:79145
HP:0200037	Skin vesicle	80169	CTC1	ORPHA:1775
HP:0200037	Skin vesicle	26277	TINF2	ORPHA:1775
HP:0200037	Skin vesicle	55651	NHP2	ORPHA:1775
HP:0200037	Skin vesicle	79650	USB1	ORPHA:1775
HP:0200037	Skin vesicle	55135	WRAP53	ORPHA:1775
HP:0200037	Skin vesicle	51750	RTEL1	ORPHA:1775
HP:0200037	Skin vesicle	4869	NPM1	ORPHA:1775
HP:0200037	Skin vesicle	7012	TERC	ORPHA:1775
HP:0200037	Skin vesicle	55505	NOP10	ORPHA:1775
HP:0200037	Skin vesicle	5073	PARN	ORPHA:1775
HP:0200037	Skin vesicle	7015	TERT	ORPHA:1775
HP:0200037	Skin vesicle	1736	DKC1	ORPHA:1775
HP:0200037	Skin vesicle	7298	TYMS	ORPHA:1775
HP:0200037	Skin vesicle	6774	STAT3	ORPHA:2314
HP:0200037	Skin vesicle	1825	DSC3	OMIM:613102
HP:0200037	Skin vesicle	5498	PPOX	ORPHA:79473
HP:0200037	Skin vesicle	488	ATP2A2	ORPHA:218
HP:0200037	Skin vesicle	4210	MEFV	ORPHA:3243
HP:0200037	Skin vesicle	56983	POGLUT1	ORPHA:79145
HP:0200037	Skin vesicle	23509	POFUT1	ORPHA:79145
HP:0200037	Skin vesicle	55851	PSENEN	ORPHA:79145
HP:0200037	Skin vesicle	1294	COL7A1	ORPHA:79410
HP:0200037	Skin vesicle	27032	ATP2C1	ORPHA:2841
HP:0200037	Skin vesicle	55343	SLC35C1	ORPHA:99843
HP:0200036	Skin nodule	255738	PCSK9	OMIM:603776
HP:0200036	Skin nodule	338	APOB	OMIM:144010
HP:0200036	Skin nodule	336	APOA2	OMIM:143890
HP:0200036	Skin nodule	2053	EPHX2	OMIM:143890
HP:0200036	Skin nodule	10842	PPP1R17	OMIM:143890
HP:0200036	Skin nodule	2690	GHR	OMIM:143890
HP:0200036	Skin nodule	3949	LDLR	OMIM:143890
HP:0200036	Skin nodule	2538	G6PC1	OMIM:232200
HP:0200036	Skin nodule	1593	CYP27A1	OMIM:213700
HP:0200036	Skin nodule	4023	LPL	OMIM:144250
HP:0200036	Skin nodule	7274	TTPA	OMIM:277460
HP:0200036	Skin nodule	161742	SPRED1	ORPHA:137605
HP:0200036	Skin nodule	2542	SLC37A4	OMIM:232220
HP:0200036	Skin nodule	2542	SLC37A4	OMIM:232240
HP:0200036	Skin nodule	2542	SLC37A4	ORPHA:79259
HP:0200036	Skin nodule	64241	ABCG8	OMIM:210250
HP:0200036	Skin nodule	335	APOA1	ORPHA:425
HP:0200036	Skin nodule	19	ABCA1	ORPHA:425
HP:0200036	Skin nodule	1499	CTNNB1	ORPHA:91414
HP:0200036	Skin nodule	1499	CTNNB1	ORPHA:873
HP:0200036	Skin nodule	118429	ANTXR2	ORPHA:2176
HP:0200036	Skin nodule	118429	ANTXR2	ORPHA:2028
HP:0200036	Skin nodule	118429	ANTXR2	OMIM:228600
HP:0200036	Skin nodule	3643	INSR	ORPHA:2297
HP:0200036	Skin nodule	114803	MYSM1	ORPHA:508542
HP:0200036	Skin nodule	1294	COL7A1	ORPHA:89843
HP:0200036	Skin nodule	5155	PDGFB	ORPHA:31112
HP:0200036	Skin nodule	23592	LEMD3	ORPHA:1879
HP:0200036	Skin nodule	23592	LEMD3	ORPHA:94063
HP:0200036	Skin nodule	23592	LEMD3	ORPHA:1306
HP:0200036	Skin nodule	1540	CYLD	ORPHA:211
HP:0200036	Skin nodule	1540	CYLD	ORPHA:867
HP:0200036	Skin nodule	5745	PTH1R	ORPHA:296
HP:0200036	Skin nodule	3418	IDH2	ORPHA:296
HP:0200036	Skin nodule	3418	IDH2	ORPHA:163634
HP:0200036	Skin nodule	3417	IDH1	ORPHA:296
HP:0200036	Skin nodule	3417	IDH1	ORPHA:163634
HP:0200036	Skin nodule	2200	FBN1	ORPHA:2833
HP:0200036	Skin nodule	2260	FGFR1	ORPHA:2396
HP:0200036	Skin nodule	3845	KRAS	ORPHA:2396
HP:0200036	Skin nodule	2717	GLA	ORPHA:324
HP:0200036	Skin nodule	4323	MMP14	OMIM:277950
HP:0200036	Skin nodule	4323	MMP14	ORPHA:371428
HP:0200036	Skin nodule	4313	MMP2	ORPHA:371428
HP:0200036	Skin nodule	4313	MMP2	OMIM:259600
HP:0200036	Skin nodule	673	BRAF	ORPHA:840
HP:0200036	Skin nodule	673	BRAF	ORPHA:500
HP:0200036	Skin nodule	10483	SEC23B	ORPHA:201
HP:0200036	Skin nodule	5728	PTEN	ORPHA:201
HP:0200036	Skin nodule	5728	PTEN	ORPHA:109
HP:0200036	Skin nodule	5728	PTEN	ORPHA:744
HP:0200036	Skin nodule	5728	PTEN	ORPHA:137608
HP:0200036	Skin nodule	6390	SDHB	ORPHA:201
HP:0200036	Skin nodule	6392	SDHD	ORPHA:201
HP:0200036	Skin nodule	6391	SDHC	ORPHA:201
HP:0200036	Skin nodule	207	AKT1	ORPHA:201
HP:0200036	Skin nodule	207	AKT1	ORPHA:744
HP:0200036	Skin nodule	205717	USF3	ORPHA:201
HP:0200036	Skin nodule	5290	PIK3CA	ORPHA:201
HP:0200036	Skin nodule	100144748	KLLN	ORPHA:201
HP:0200036	Skin nodule	1281	COL3A1	ORPHA:286
HP:0200036	Skin nodule	8091	HMGA2	ORPHA:94063
HP:0200036	Skin nodule	8091	HMGA2	ORPHA:99971
HP:0200036	Skin nodule	567	B2M	OMIM:241600
HP:0200036	Skin nodule	427	ASAH1	OMIM:228000
HP:0200036	Skin nodule	7010	TEK	ORPHA:1059
HP:0200036	Skin nodule	56244	BTNL2	ORPHA:797
HP:0200036	Skin nodule	3123	HLA-DRB1	ORPHA:797
HP:0200036	Skin nodule	324	APC	ORPHA:873
HP:0200036	Skin nodule	64840	PORCN	ORPHA:2092
HP:0200036	Skin nodule	7249	TSC2	OMIM:613254
HP:0200036	Skin nodule	3458	IFNG	OMIM:613254
HP:0200036	Skin nodule	83706	FERMT3	OMIM:612840
HP:0200036	Skin nodule	4157	MC1R	ORPHA:626
HP:0200036	Skin nodule	4893	NRAS	ORPHA:626
HP:0200036	Skin nodule	4952	OCRL	OMIM:309000
HP:0200036	Skin nodule	5781	PTPN11	ORPHA:500
HP:0200036	Skin nodule	5894	RAF1	ORPHA:500
HP:0200036	Skin nodule	1019	CDK4	ORPHA:99971
HP:0200036	Skin nodule	4193	MDM2	ORPHA:99971
HP:0200036	Skin nodule	2263	FGFR2	ORPHA:1555
HP:0200036	Skin nodule	4982	TNFRSF11B	ORPHA:2801
HP:0200036	Skin nodule	8792	TNFRSF11A	ORPHA:2801
HP:0200036	Skin nodule	3832	KIF11	ORPHA:2526
HP:0200036	Skin nodule	7248	TSC1	OMIM:191100
HP:0200036	Skin nodule	6299	SALL1	ORPHA:857
HP:0200036	Skin nodule	51339	DACT1	ORPHA:857
HP:0200036	Skin nodule	2521	FUS	ORPHA:99967
HP:0200036	Skin nodule	1649	DDIT3	ORPHA:99967
HP:0200036	Skin nodule	90	ACVR1	ORPHA:337
HP:0200036	Skin nodule	1893	ECM1	ORPHA:530
HP:0200036	Skin nodule	4854	NOTCH3	ORPHA:2591
HP:0200036	Skin nodule	5159	PDGFRB	ORPHA:2591
HP:0200036	Skin nodule	348	APOE	ORPHA:158029
HP:0200036	Skin nodule	51371	POMP	OMIM:618048
HP:0200036	Skin nodule	4668	NAGA	ORPHA:79280
HP:0200036	Skin nodule	3593	IL12B	ORPHA:3287
HP:0200036	Skin nodule	3106	HLA-B	ORPHA:3287
HP:0200036	Skin nodule	3106	HLA-B	ORPHA:117
HP:0200036	Skin nodule	6945	MLX	ORPHA:3287
HP:0200036	Skin nodule	2744	GLS	OMIM:618339
HP:0200036	Skin nodule	5167	ENPP1	ORPHA:758
HP:0200036	Skin nodule	368	ABCC6	ORPHA:758
HP:0200036	Skin nodule	149233	IL23R	ORPHA:117
HP:0200036	Skin nodule	6775	STAT4	ORPHA:117
HP:0200036	Skin nodule	3586	IL10	ORPHA:117
HP:0200036	Skin nodule	4210	MEFV	ORPHA:117
HP:0200036	Skin nodule	1230	CCR1	ORPHA:117
HP:0200036	Skin nodule	355	FAS	ORPHA:117
HP:0200036	Skin nodule	3592	IL12A	ORPHA:117
HP:0200036	Skin nodule	101928376	IL12A-AS1	ORPHA:117
HP:0200036	Skin nodule	7099	TLR4	ORPHA:117
HP:0200036	Skin nodule	3459	IFNGR1	ORPHA:117
HP:0200036	Skin nodule	720	C4A	ORPHA:117
HP:0200036	Skin nodule	337867	UBAC2	ORPHA:117
HP:0200036	Skin nodule	51752	ERAP1	ORPHA:117
HP:0200036	Skin nodule	8302	KLRC4	ORPHA:117
HP:0200036	Skin nodule	55699	IARS2	ORPHA:436174
HP:0200036	Skin nodule	5573	PRKAR1A	ORPHA:1359
HP:0200036	Skin nodule	50940	PDE11A	ORPHA:1359
HP:0200036	Skin nodule	1277	COL1A1	ORPHA:287
HP:0200036	Skin nodule	1289	COL5A1	ORPHA:287
HP:0200036	Skin nodule	1289	COL5A1	OMIM:130000
HP:0200036	Skin nodule	1290	COL5A2	ORPHA:287
HP:0200036	Skin nodule	1290	COL5A2	OMIM:130010
HP:0200036	Skin nodule	2778	GNAS	OMIM:166350
HP:0200036	Skin nodule	2778	GNAS	ORPHA:79443
HP:0200036	Skin nodule	2778	GNAS	ORPHA:79444
HP:0200036	Skin nodule	2778	GNAS	ORPHA:79445
HP:0200036	Skin nodule	488	ATP2A2	OMIM:101900
HP:0200036	Skin nodule	488	ATP2A2	ORPHA:218
HP:0200036	Skin nodule	488	ATP2A2	OMIM:124200
HP:0200036	Skin nodule	84946	LTV1	OMIM:620199
HP:0200036	Skin nodule	10804	GJB6	ORPHA:477
HP:0200036	Skin nodule	2706	GJB2	ORPHA:477
HP:0200036	Skin nodule	11146	GLMN	ORPHA:83454
HP:0200036	Skin nodule	596	BCL2	ORPHA:545
HP:0200036	Skin nodule	3492	IGH	ORPHA:545
HP:0200036	Skin nodule	604	BCL6	ORPHA:545
HP:0200036	Skin nodule	23095	KIF1B	OMIM:256700
HP:0200036	Skin nodule	3815	KIT	ORPHA:79455
HP:0200035	Skin plaque	3939	LDHA	ORPHA:284426
HP:0200035	Skin plaque	3858	KRT10	OMIM:607602
HP:0200035	Skin plaque	84868	HAVCR2	ORPHA:86884
HP:0200035	Skin plaque	79092	CARD14	OMIM:173200
HP:0200035	Skin plaque	5921	RASA1	ORPHA:90307
HP:0200035	Skin plaque	4210	MEFV	ORPHA:3243
HP:0200035	Skin plaque	9526	MPDU1	ORPHA:79323
HP:0200035	Skin plaque	1280	COL2A1	ORPHA:485
HP:0200035	Skin plaque	54795	TRPM4	OMIM:618531
HP:0200035	Skin plaque	1294	COL7A1	ORPHA:158673
HP:0200035	Skin plaque	10682	EBP	ORPHA:35173
HP:0200035	Skin plaque	6392	SDHD	ORPHA:100093
HP:0200035	Skin plaque	51816	ADA2	OMIM:615688
HP:0200035	Skin plaque	10804	GJB6	ORPHA:477
HP:0200035	Skin plaque	2706	GJB2	ORPHA:477
HP:0200035	Skin plaque	11146	GLMN	ORPHA:83454
HP:0200035	Skin plaque	3458	IFNG	ORPHA:805
HP:0200035	Skin plaque	7248	TSC1	ORPHA:805
HP:0200035	Skin plaque	7249	TSC2	ORPHA:805
HP:0200035	Skin plaque	3852	KRT5	ORPHA:79400
HP:0200035	Skin plaque	3861	KRT14	ORPHA:79400
HP:0200035	Skin plaque	11322	TMC6	ORPHA:302
HP:0200035	Skin plaque	3574	IL7	ORPHA:302
HP:0200035	Skin plaque	147138	TMC8	ORPHA:302
HP:0200035	Skin plaque	10519	CIB1	ORPHA:302
HP:0200035	Skin plaque	3909	LAMA3	ORPHA:79404
HP:0200035	Skin plaque	3918	LAMC2	ORPHA:79404
HP:0200035	Skin plaque	3914	LAMB3	ORPHA:79404
HP:0200035	Skin plaque	1080	CFTR	ORPHA:498359
HP:0200035	Skin plaque	7317	UBA1	OMIM:301054
HP:0200035	Skin plaque	1893	ECM1	OMIM:247100
HP:0200035	Skin plaque	127534	GJB4	OMIM:617524
HP:0200035	Skin plaque	488	ATP2A2	ORPHA:79151
HP:0200035	Skin plaque	5696	PSMB8	OMIM:256040
HP:0200035	Skin plaque	1493	CTLA4	ORPHA:2584
HP:0200035	Skin plaque	940	CD28	ORPHA:2584
HP:0200035	Skin plaque	7133	TNFRSF1B	ORPHA:2584
HP:0200035	Skin plaque	3815	KIT	ORPHA:79455
HP:0200035	Skin plaque	56244	BTNL2	ORPHA:797
HP:0200035	Skin plaque	3123	HLA-DRB1	ORPHA:797
HP:0200035	Skin plaque	4014	LORICRIN	ORPHA:316
HP:0200035	Skin plaque	3889	KRT83	ORPHA:316
HP:0200035	Skin plaque	2531	KDSR	ORPHA:316
HP:0200035	Skin plaque	3417	IDH1	ORPHA:99646
HP:0200034	Papule	3939	LDHA	ORPHA:284426
HP:0200034	Papule	64127	NOD2	OMIM:186580
HP:0200034	Papule	2316	FLNA	ORPHA:88630
HP:0200034	Papule	56983	POGLUT1	ORPHA:79145
HP:0200034	Papule	3852	KRT5	ORPHA:79145
HP:0200034	Papule	23509	POFUT1	ORPHA:79145
HP:0200034	Papule	55851	PSENEN	ORPHA:79145
HP:0200034	Papule	3815	KIT	ORPHA:79455
HP:0200034	Papule	3417	IDH1	ORPHA:99646
HP:0200034	Papule	368	ABCC6	OMIM:177850
HP:0200034	Papule	368	ABCC6	OMIM:264800
HP:0200034	Papule	64131	XYLT1	OMIM:264800
HP:0200034	Papule	64132	XYLT2	OMIM:264800
HP:0200034	Papule	1277	COL1A1	ORPHA:287
HP:0200034	Papule	1289	COL5A1	ORPHA:287
HP:0200034	Papule	1290	COL5A2	ORPHA:287
HP:0200034	Papule	165	AEBP1	ORPHA:536532
HP:0200034	Papule	488	ATP2A2	ORPHA:79151
HP:0200034	Papule	84868	HAVCR2	ORPHA:86884
HP:0200034	Papule	4210	MEFV	ORPHA:3243
HP:0200034	Papule	64421	DCLRE1C	OMIM:602450
HP:0200034	Papule	7507	XPA	OMIM:278700
HP:0200034	Papule	1080	CFTR	ORPHA:498359
HP:0200034	Papule	10804	GJB6	ORPHA:189
HP:0200034	Papule	3848	KRT1	OMIM:146590
HP:0200034	Papule	3861	KRT14	ORPHA:79397
HP:0200034	Papule	4035	LRP1	ORPHA:79100
HP:0200034	Papule	1294	COL7A1	ORPHA:79410
HP:0200034	Papule	2706	GJB2	ORPHA:2698
HP:0200034	Papule	7373	COL14A1	ORPHA:79501
HP:0200034	Papule	79719	AAGAB	ORPHA:79501
HP:0200034	Papule	2677	GGCX	ORPHA:436274
HP:0200034	Papule	2677	GGCX	ORPHA:91135
HP:0200034	Papule	1540	CYLD	ORPHA:867
HP:0200034	Papule	1493	CTLA4	ORPHA:900
HP:0200034	Papule	26191	PTPN22	ORPHA:900
HP:0200034	Papule	3115	HLA-DPB1	ORPHA:900
HP:0200034	Papule	5657	PRTN3	ORPHA:900
HP:0200034	Papule	3113	HLA-DPA1	ORPHA:900
HP:0200034	Papule	11322	TMC6	ORPHA:302
HP:0200034	Papule	3574	IL7	ORPHA:302
HP:0200034	Papule	147138	TMC8	ORPHA:302
HP:0200034	Papule	10519	CIB1	ORPHA:302
HP:0200034	Papule	5184	PEPD	ORPHA:742
HP:0200034	Papule	2776	GNAQ	ORPHA:624
HP:0200034	Papule	79092	CARD14	ORPHA:2897
HP:0200034	Papule	362	AQP5	ORPHA:2337
HP:0200034	Papule	4598	MVK	ORPHA:343
HP:0200034	Papule	4000	LMNA	ORPHA:740
HP:0200034	Papule	10269	ZMPSTE24	ORPHA:740
HP:0200034	Papule	2778	GNAS	ORPHA:2762
HP:0200034	Papule	6785	ELOVL4	ORPHA:1955
HP:0200034	Papule	1893	ECM1	ORPHA:530
HP:0200034	Papule	1893	ECM1	OMIM:247100
HP:0200034	Papule	5339	PLEC	ORPHA:257
HP:0200034	Papule	9663	LPIN2	ORPHA:77297
HP:0200034	Papule	51360	MBTPS2	ORPHA:2273
HP:0200034	Papule	11146	GLMN	ORPHA:83454
HP:0200034	Papule	63910	SLC17A9	OMIM:616063
HP:0200034	Papule	1956	EGFR	OMIM:616069
HP:0200034	Papule	2072	ERCC4	OMIM:278760
HP:0200034	Papule	6774	STAT3	ORPHA:2314
HP:0200034	Papule	4668	NAGA	ORPHA:79280
HP:0200034	Papule	23592	LEMD3	ORPHA:1306
HP:0200034	Papule	201163	FLCN	ORPHA:122
HP:0200034	Papule	673	BRAF	ORPHA:840
HP:0200034	Papule	10483	SEC23B	ORPHA:201
HP:0200034	Papule	5728	PTEN	ORPHA:201
HP:0200034	Papule	5728	PTEN	ORPHA:65285
HP:0200034	Papule	5728	PTEN	ORPHA:137608
HP:0200034	Papule	6390	SDHB	ORPHA:201
HP:0200034	Papule	6392	SDHD	ORPHA:201
HP:0200034	Papule	6391	SDHC	ORPHA:201
HP:0200034	Papule	207	AKT1	ORPHA:201
HP:0200034	Papule	205717	USF3	ORPHA:201
HP:0200034	Papule	5290	PIK3CA	ORPHA:201
HP:0200034	Papule	100144748	KLLN	ORPHA:201
HP:0200034	Papule	9333	TGM5	ORPHA:263534
HP:0200034	Papule	1475	CSTA	ORPHA:263534
HP:0200034	Papule	118429	ANTXR2	ORPHA:2028
HP:0200034	Papule	84818	IL17RC	ORPHA:1334
HP:0200034	Papule	64581	CLEC7A	ORPHA:1334
HP:0200034	Papule	23765	IL17RA	ORPHA:1334
HP:0200034	Papule	10758	TRAF3IP2	ORPHA:1334
HP:0200034	Papule	112744	IL17F	ORPHA:1334
HP:0200034	Papule	114548	NLRP3	ORPHA:1451
HP:0200034	Papule	5277	PIGA	OMIM:301072
HP:0200034	Papule	4763	NF1	ORPHA:97685
HP:0200034	Papule	149233	IL23R	ORPHA:117
HP:0200034	Papule	6775	STAT4	ORPHA:117
HP:0200034	Papule	3586	IL10	ORPHA:117
HP:0200034	Papule	1230	CCR1	ORPHA:117
HP:0200034	Papule	355	FAS	ORPHA:117
HP:0200034	Papule	3592	IL12A	ORPHA:117
HP:0200034	Papule	101928376	IL12A-AS1	ORPHA:117
HP:0200034	Papule	3106	HLA-B	ORPHA:117
HP:0200034	Papule	7099	TLR4	ORPHA:117
HP:0200034	Papule	3459	IFNGR1	ORPHA:117
HP:0200034	Papule	720	C4A	ORPHA:117
HP:0200034	Papule	337867	UBAC2	ORPHA:117
HP:0200034	Papule	51752	ERAP1	ORPHA:117
HP:0200034	Papule	8302	KLRC4	ORPHA:117
HP:0200032	Kayser-Fleischer ring	540	ATP7B	ORPHA:905
HP:0200032	Kayser-Fleischer ring	540	ATP7B	OMIM:277900
HP:0200030	Punctate vasculitis skin lesions	11277	TREX1	ORPHA:247691
HP:0200030	Punctate vasculitis skin lesions	11277	TREX1	OMIM:192315
HP:0200039	Pustule	1893	ECM1	ORPHA:530
HP:0200039	Pustule	9663	LPIN2	ORPHA:77297
HP:0200039	Pustule	3939	LDHA	ORPHA:284426
HP:0200039	Pustule	1956	EGFR	OMIM:616069
HP:0200039	Pustule	1956	EGFR	ORPHA:294023
HP:0200039	Pustule	57591	MRTFA	OMIM:618847
HP:0200039	Pustule	6868	ADAM17	OMIM:614328
HP:0200039	Pustule	6868	ADAM17	ORPHA:294023
HP:0200039	Pustule	340061	STING1	OMIM:615934
HP:0200039	Pustule	26525	IL36RN	OMIM:614204
HP:0200039	Pustule	23765	IL17RA	OMIM:613953
HP:0200039	Pustule	4210	MEFV	ORPHA:3243
HP:0200039	Pustule	11322	TMC6	ORPHA:302
HP:0200039	Pustule	3574	IL7	ORPHA:302
HP:0200039	Pustule	147138	TMC8	ORPHA:302
HP:0200039	Pustule	10519	CIB1	ORPHA:302
HP:0200039	Pustule	79092	CARD14	ORPHA:2897
HP:0200039	Pustule	55630	SLC39A4	ORPHA:37
HP:0200039	Pustule	3106	HLA-B	ORPHA:29207
HP:0200039	Pustule	6340	SCNN1G	ORPHA:171876
HP:0200039	Pustule	6337	SCNN1A	ORPHA:171876
HP:0200039	Pustule	6338	SCNN1B	ORPHA:171876
HP:0200039	Pustule	1508	CTSB	ORPHA:50943
HP:0200039	Pustule	9051	PSTPIP1	ORPHA:69126
HP:0200039	Pustule	3557	IL1RN	OMIM:612852
HP:0200039	Pustule	3718	JAK3	ORPHA:35078
HP:0200039	Pustule	1075	CTSC	ORPHA:678
HP:0000410	Mixed hearing impairment	3476	IGBP1	OMIM:300472
HP:0000410	Mixed hearing impairment	9949	AMMECR1	OMIM:300990
HP:0000410	Mixed hearing impairment	64840	PORCN	OMIM:305600
HP:0000410	Mixed hearing impairment	126792	B3GALT6	ORPHA:536467
HP:0000410	Mixed hearing impairment	392255	GDF6	OMIM:118100
HP:0000410	Mixed hearing impairment	2138	EYA1	OMIM:113650
HP:0000410	Mixed hearing impairment	2138	EYA1	OMIM:602588
HP:0000410	Mixed hearing impairment	2138	EYA1	OMIM:166780
HP:0000410	Mixed hearing impairment	6495	SIX1	OMIM:113650
HP:0000410	Mixed hearing impairment	5167	ENPP1	ORPHA:51608
HP:0000410	Mixed hearing impairment	368	ABCC6	ORPHA:51608
HP:0000410	Mixed hearing impairment	56172	ANKH	OMIM:123000
HP:0000410	Mixed hearing impairment	2263	FGFR2	OMIM:149730
HP:0000410	Mixed hearing impairment	2263	FGFR2	ORPHA:2363
HP:0000410	Mixed hearing impairment	2316	FLNA	ORPHA:1826
HP:0000410	Mixed hearing impairment	6885	MAP3K7	ORPHA:1826
HP:0000410	Mixed hearing impairment	2317	FLNB	OMIM:272460
HP:0000410	Mixed hearing impairment	166929	SGMS2	OMIM:126550
HP:0000410	Mixed hearing impairment	8085	KMT2D	OMIM:620186
HP:0000410	Mixed hearing impairment	415	ARSL	ORPHA:79345
HP:0000410	Mixed hearing impairment	2706	GJB2	ORPHA:2698
HP:0000410	Mixed hearing impairment	2706	GJB2	OMIM:304400
HP:0000410	Mixed hearing impairment	5456	POU3F4	OMIM:304400
HP:0000410	Mixed hearing impairment	10804	GJB6	OMIM:304400
HP:0000410	Mixed hearing impairment	2697	GJA1	OMIM:218400
HP:0000410	Mixed hearing impairment	1302	COL11A2	OMIM:215150
HP:0000410	Mixed hearing impairment	4125	MAN2B1	ORPHA:309282
HP:0000410	Mixed hearing impairment	4125	MAN2B1	ORPHA:309288
HP:0000410	Mixed hearing impairment	27125	AFF4	ORPHA:444077
HP:0000410	Mixed hearing impairment	9401	RECQL4	OMIM:218600
HP:0000410	Mixed hearing impairment	3199	HOXA2	OMIM:612290
HP:0000410	Mixed hearing impairment	55755	CDK5RAP2	OMIM:604804
HP:0000410	Mixed hearing impairment	1855	DVL1	OMIM:616331
HP:0000410	Mixed hearing impairment	5075	PAX1	OMIM:615560
HP:0000410	Mixed hearing impairment	1009	CDH11	ORPHA:1299
HP:0000410	Mixed hearing impairment	55636	CHD7	OMIM:214800
HP:0000410	Mixed hearing impairment	2261	FGFR3	ORPHA:2363
HP:0000410	Mixed hearing impairment	2255	FGF10	ORPHA:2363
HP:0000410	Mixed hearing impairment	55033	FKBP14	OMIM:614557
HP:0000410	Mixed hearing impairment	84173	ELMOD3	OMIM:615429
HP:0000410	Mixed hearing impairment	55294	FBXW7	OMIM:620012
HP:0000410	Mixed hearing impairment	56975	FAM20C	OMIM:259775
HP:0000410	Mixed hearing impairment	6234	RPS28	OMIM:606164
HP:0000411	Protruding ear	23394	ADNP	ORPHA:404448
HP:0000411	Protruding ear	26235	FBXL4	OMIM:615471
HP:0000411	Protruding ear	1139	CHRNA7	ORPHA:199318
HP:0000411	Protruding ear	10054	UBA2	OMIM:619959
HP:0000411	Protruding ear	9820	CUL7	ORPHA:2616
HP:0000411	Protruding ear	23363	OBSL1	ORPHA:2616
HP:0000411	Protruding ear	23363	OBSL1	OMIM:612921
HP:0000411	Protruding ear	83987	CCDC8	ORPHA:2616
HP:0000411	Protruding ear	83987	CCDC8	OMIM:614205
HP:0000411	Protruding ear	55627	SMPD4	OMIM:618622
HP:0000411	Protruding ear	7021	TFAP2B	OMIM:169100
HP:0000411	Protruding ear	3190	HNRNPK	ORPHA:453504
HP:0000411	Protruding ear	3190	HNRNPK	ORPHA:352665
HP:0000411	Protruding ear	3481	IGF2	ORPHA:231140
HP:0000411	Protruding ear	283120	H19	ORPHA:231140
HP:0000411	Protruding ear	170302	ARX	OMIM:300004
HP:0000411	Protruding ear	170302	ARX	ORPHA:2508
HP:0000411	Protruding ear	27245	AHDC1	ORPHA:412069
HP:0000411	Protruding ear	27245	AHDC1	OMIM:615829
HP:0000411	Protruding ear	10084	PQBP1	ORPHA:93947
HP:0000411	Protruding ear	10084	PQBP1	OMIM:309500
HP:0000411	Protruding ear	5818	NECTIN1	ORPHA:3253
HP:0000411	Protruding ear	4038	LRP4	ORPHA:3258
HP:0000411	Protruding ear	324	APC	ORPHA:3258
HP:0000411	Protruding ear	6197	RPS6KA3	OMIM:303600
HP:0000411	Protruding ear	6197	RPS6KA3	ORPHA:192
HP:0000411	Protruding ear	818	CAMK2G	OMIM:618522
HP:0000411	Protruding ear	284058	KANSL1	ORPHA:363958
HP:0000411	Protruding ear	284058	KANSL1	ORPHA:363965
HP:0000411	Protruding ear	113189	CHST14	ORPHA:2953
HP:0000411	Protruding ear	113189	CHST14	OMIM:601776
HP:0000411	Protruding ear	29940	DSE	ORPHA:2953
HP:0000411	Protruding ear	29940	DSE	OMIM:615539
HP:0000411	Protruding ear	6872	TAF1	ORPHA:480907
HP:0000411	Protruding ear	6872	TAF1	OMIM:300966
HP:0000411	Protruding ear	1281	COL3A1	ORPHA:286
HP:0000411	Protruding ear	652	BMP4	OMIM:607932
HP:0000411	Protruding ear	4763	NF1	ORPHA:363700
HP:0000411	Protruding ear	3340	NDST1	OMIM:616116
HP:0000411	Protruding ear	1954	MEGF8	OMIM:614976
HP:0000411	Protruding ear	649	BMP1	OMIM:614856
HP:0000411	Protruding ear	25942	SIN3A	OMIM:613406
HP:0000411	Protruding ear	3981	LIG4	ORPHA:235
HP:0000411	Protruding ear	54888	NSUN2	ORPHA:235
HP:0000411	Protruding ear	7809	BSND	ORPHA:89938
HP:0000411	Protruding ear	1188	CLCNKB	ORPHA:89938
HP:0000411	Protruding ear	1187	CLCNKA	ORPHA:89938
HP:0000411	Protruding ear	7025	NR2F1	ORPHA:401777
HP:0000411	Protruding ear	7025	NR2F1	OMIM:615722
HP:0000411	Protruding ear	51114	ZDHHC9	OMIM:300799
HP:0000411	Protruding ear	51114	ZDHHC9	ORPHA:776
HP:0000411	Protruding ear	55621	TRMT1	OMIM:618302
HP:0000411	Protruding ear	51633	OTUD6B	OMIM:617452
HP:0000411	Protruding ear	2332	FMR1	ORPHA:908
HP:0000411	Protruding ear	1909	EDNRA	OMIM:616367
HP:0000411	Protruding ear	6804	STX1A	ORPHA:904
HP:0000411	Protruding ear	7461	CLIP2	ORPHA:904
HP:0000411	Protruding ear	84277	DNAJC30	ORPHA:904
HP:0000411	Protruding ear	8468	FKBP6	ORPHA:904
HP:0000411	Protruding ear	5982	RFC2	ORPHA:904
HP:0000411	Protruding ear	2969	GTF2I	ORPHA:904
HP:0000411	Protruding ear	3984	LIMK1	ORPHA:904
HP:0000411	Protruding ear	9569	GTF2IRD1	ORPHA:904
HP:0000411	Protruding ear	155382	VPS37D	ORPHA:904
HP:0000411	Protruding ear	155368	METTL27	ORPHA:904
HP:0000411	Protruding ear	114049	BUD23	ORPHA:904
HP:0000411	Protruding ear	7458	EIF4H	ORPHA:904
HP:0000411	Protruding ear	84163	GTF2IRD2	ORPHA:904
HP:0000411	Protruding ear	9275	BCL7B	ORPHA:904
HP:0000411	Protruding ear	26608	TBL2	ORPHA:904
HP:0000411	Protruding ear	653361	NCF1	ORPHA:904
HP:0000411	Protruding ear	135886	TMEM270	ORPHA:904
HP:0000411	Protruding ear	51085	MLXIPL	ORPHA:904
HP:0000411	Protruding ear	9031	BAZ1B	ORPHA:904
HP:0000411	Protruding ear	2006	ELN	ORPHA:904
HP:0000411	Protruding ear	2006	ELN	ORPHA:90348
HP:0000411	Protruding ear	6134	RPL10	ORPHA:459070
HP:0000411	Protruding ear	6134	RPL10	OMIM:300998
HP:0000411	Protruding ear	6134	RPL10	ORPHA:435938
HP:0000411	Protruding ear	80067	DCAF17	ORPHA:3464
HP:0000411	Protruding ear	80067	DCAF17	OMIM:241080
HP:0000411	Protruding ear	1859	DYRK1A	ORPHA:464311
HP:0000411	Protruding ear	1859	DYRK1A	ORPHA:268261
HP:0000411	Protruding ear	23137	SMC5	OMIM:620185
HP:0000411	Protruding ear	10907	TXNL4A	OMIM:608572
HP:0000411	Protruding ear	55027	HEATR3	OMIM:620072
HP:0000411	Protruding ear	283209	PGM2L1	OMIM:620191
HP:0000411	Protruding ear	8905	AP1S2	ORPHA:85329
HP:0000411	Protruding ear	2316	FLNA	OMIM:300321
HP:0000411	Protruding ear	9158	FIBP	OMIM:617107
HP:0000411	Protruding ear	9158	FIBP	ORPHA:500095
HP:0000411	Protruding ear	163175	LGI4	OMIM:617468
HP:0000411	Protruding ear	641	BLM	OMIM:210900
HP:0000411	Protruding ear	23261	CAMTA1	OMIM:614756
HP:0000411	Protruding ear	200424	TET3	OMIM:618798
HP:0000411	Protruding ear	55691	FRMD4A	OMIM:616819
HP:0000411	Protruding ear	2556	GABRA3	OMIM:301091
HP:0000411	Protruding ear	8242	KDM5C	OMIM:300534
HP:0000411	Protruding ear	8242	KDM5C	ORPHA:85279
HP:0000411	Protruding ear	23162	MAPK8IP3	OMIM:618443
HP:0000411	Protruding ear	79989	IFT56	OMIM:619534
HP:0000411	Protruding ear	7140	TNNT3	ORPHA:1147
HP:0000411	Protruding ear	4621	MYH3	ORPHA:1147
HP:0000411	Protruding ear	7169	TPM2	ORPHA:1147
HP:0000411	Protruding ear	259232	NALCN	ORPHA:1147
HP:0000411	Protruding ear	7136	TNNI2	ORPHA:1147
HP:0000411	Protruding ear	84168	ANTXR1	OMIM:230740
HP:0000411	Protruding ear	10516	FBLN5	ORPHA:90348
HP:0000411	Protruding ear	5832	ALDH18A1	ORPHA:90348
HP:0000411	Protruding ear	5832	ALDH18A1	OMIM:616603
HP:0000411	Protruding ear	404672	GTF2H5	ORPHA:33364
HP:0000411	Protruding ear	833	CARS1	ORPHA:33364
HP:0000411	Protruding ear	2068	ERCC2	ORPHA:33364
HP:0000411	Protruding ear	2068	ERCC2	OMIM:601675
HP:0000411	Protruding ear	7737	RNF113A	ORPHA:33364
HP:0000411	Protruding ear	136647	MPLKIP	ORPHA:33364
HP:0000411	Protruding ear	6897	TARS1	ORPHA:33364
HP:0000411	Protruding ear	2071	ERCC3	ORPHA:33364
HP:0000411	Protruding ear	2961	GTF2E2	ORPHA:33364
HP:0000411	Protruding ear	6509	SLC1A4	ORPHA:447997
HP:0000411	Protruding ear	9896	FIG4	OMIM:216340
HP:0000411	Protruding ear	8626	TP63	ORPHA:69085
HP:0000411	Protruding ear	1387	CREBBP	OMIM:618332
HP:0000411	Protruding ear	5781	PTPN11	OMIM:151100
HP:0000411	Protruding ear	29123	ANKRD11	OMIM:148050
HP:0000411	Protruding ear	29123	ANKRD11	ORPHA:261250
HP:0000411	Protruding ear	58497	PRUNE1	OMIM:617481
HP:0000411	Protruding ear	9775	EIF4A3	OMIM:268305
HP:0000411	Protruding ear	26173	INTS1	OMIM:618571
HP:0000411	Protruding ear	2702	GJA5	OMIM:612474
HP:0000411	Protruding ear	2703	GJA8	OMIM:612474
HP:0000411	Protruding ear	55690	PACS1	ORPHA:329224
HP:0000411	Protruding ear	7227	TRPS1	OMIM:190350
HP:0000411	Protruding ear	7227	TRPS1	OMIM:190351
HP:0000411	Protruding ear	7227	TRPS1	ORPHA:77258
HP:0000411	Protruding ear	7227	TRPS1	ORPHA:502
HP:0000411	Protruding ear	2200	FBN1	ORPHA:2462
HP:0000411	Protruding ear	6497	SKI	ORPHA:2462
HP:0000411	Protruding ear	3720	JARID2	OMIM:620098
HP:0000411	Protruding ear	10075	HUWE1	OMIM:309590
HP:0000411	Protruding ear	274	BIN1	ORPHA:169186
HP:0000411	Protruding ear	10290	SPEG	ORPHA:169186
HP:0000411	Protruding ear	6261	RYR1	ORPHA:169186
HP:0000411	Protruding ear	7273	TTN	ORPHA:169186
HP:0000411	Protruding ear	1291	COL6A1	OMIM:254090
HP:0000411	Protruding ear	1292	COL6A2	OMIM:254090
HP:0000411	Protruding ear	1293	COL6A3	OMIM:254090
HP:0000411	Protruding ear	54517	PUS7	OMIM:618342
HP:0000411	Protruding ear	2335	FN1	ORPHA:93315
HP:0000411	Protruding ear	1280	COL2A1	ORPHA:93315
HP:0000411	Protruding ear	2290	FOXG1	OMIM:613454
HP:0000411	Protruding ear	2290	FOXG1	ORPHA:261144
HP:0000411	Protruding ear	55628	ZNF407	OMIM:619557
HP:0000411	Protruding ear	85358	SHANK3	OMIM:606232
HP:0000411	Protruding ear	91179	SCARF2	OMIM:600920
HP:0000411	Protruding ear	29998	BICRA	OMIM:619325
HP:0000411	Protruding ear	6651	SON	OMIM:617140
HP:0000411	Protruding ear	6651	SON	ORPHA:500150
HP:0000411	Protruding ear	8085	KMT2D	ORPHA:2322
HP:0000411	Protruding ear	8085	KMT2D	OMIM:147920
HP:0000411	Protruding ear	7403	KDM6A	ORPHA:2322
HP:0000411	Protruding ear	7403	KDM6A	OMIM:300867
HP:0000411	Protruding ear	7403	KDM6A	OMIM:147920
HP:0000411	Protruding ear	4081	MAB21L1	OMIM:618479
HP:0000411	Protruding ear	65109	UPF3B	ORPHA:776
HP:0000411	Protruding ear	9968	MED12	ORPHA:776
HP:0000411	Protruding ear	4952	OCRL	ORPHA:534
HP:0000411	Protruding ear	84892	POMGNT2	ORPHA:899
HP:0000411	Protruding ear	148789	B3GALNT2	ORPHA:899
HP:0000411	Protruding ear	79147	FKRP	ORPHA:899
HP:0000411	Protruding ear	29954	POMT2	ORPHA:899
HP:0000411	Protruding ear	9215	LARGE1	ORPHA:899
HP:0000411	Protruding ear	1282	COL4A1	ORPHA:899
HP:0000411	Protruding ear	729920	CRPPA	ORPHA:899
HP:0000411	Protruding ear	10329	RXYLT1	ORPHA:899
HP:0000411	Protruding ear	1605	DAG1	ORPHA:899
HP:0000411	Protruding ear	11041	B4GAT1	ORPHA:899
HP:0000411	Protruding ear	10585	POMT1	ORPHA:899
HP:0000411	Protruding ear	84197	POMK	ORPHA:899
HP:0000411	Protruding ear	2218	FKTN	ORPHA:899
HP:0000411	Protruding ear	55624	POMGNT1	ORPHA:899
HP:0000411	Protruding ear	56975	FAM20C	OMIM:259775
HP:0000411	Protruding ear	16	AARS1	OMIM:619691
HP:0000411	Protruding ear	55777	MBD5	OMIM:156200
HP:0000411	Protruding ear	8260	NAA10	OMIM:300855
HP:0000411	Protruding ear	7468	NSD2	OMIM:619695
HP:0000411	Protruding ear	5925	RB1	ORPHA:1587
HP:0000411	Protruding ear	50945	TBX22	OMIM:302905
HP:0000411	Protruding ear	5831	PYCR1	OMIM:612940
HP:0000411	Protruding ear	29920	PYCR2	ORPHA:481152
HP:0000411	Protruding ear	2138	EYA1	ORPHA:2792
HP:0000411	Protruding ear	5075	PAX1	ORPHA:2792
HP:0000411	Protruding ear	55764	IFT122	OMIM:218330
HP:0000411	Protruding ear	5422	POLA1	OMIM:301030
HP:0000411	Protruding ear	9496	TBX4	ORPHA:261279
HP:0000411	Protruding ear	79576	NKAP	OMIM:301039
HP:0000411	Protruding ear	51305	KCNK9	ORPHA:166108
HP:0000411	Protruding ear	2697	GJA1	ORPHA:317
HP:0000411	Protruding ear	2707	GJB3	ORPHA:317
HP:0000411	Protruding ear	2531	KDSR	ORPHA:317
HP:0000411	Protruding ear	127534	GJB4	ORPHA:317
HP:0000411	Protruding ear	57572	DOCK6	OMIM:614219
HP:0000411	Protruding ear	112858	TP53RK	OMIM:617730
HP:0000411	Protruding ear	10847	SRCAP	OMIM:619595
HP:0000411	Protruding ear	145173	B3GLCT	OMIM:261540
HP:0000411	Protruding ear	6711	SPTBN1	OMIM:619475
HP:0000411	Protruding ear	1213	CLTC	OMIM:617854
HP:0000411	Protruding ear	54361	WNT4	ORPHA:247768
HP:0000411	Protruding ear	4659	PPP1R12A	OMIM:618820
HP:0000411	Protruding ear	3643	INSR	ORPHA:508
HP:0000411	Protruding ear	285590	SH3PXD2B	ORPHA:137834
HP:0000411	Protruding ear	285590	SH3PXD2B	OMIM:249420
HP:0000411	Protruding ear	4810	NHS	ORPHA:627
HP:0000411	Protruding ear	5293	PIK3CD	ORPHA:221139
HP:0000411	Protruding ear	90417	KNSTRN	ORPHA:221139
HP:0000411	Protruding ear	8405	SPOP	OMIM:618829
HP:0000411	Protruding ear	63895	PIEZO2	OMIM:108145
HP:0000411	Protruding ear	2131	EXT1	ORPHA:502
HP:0000411	Protruding ear	284252	KCTD1	OMIM:181270
HP:0000411	Protruding ear	55617	TASP1	OMIM:618950
HP:0000411	Protruding ear	90416	CCDC32	OMIM:619123
HP:0000411	Protruding ear	10293	TRAIP	OMIM:616777
HP:0000411	Protruding ear	2260	FGFR1	ORPHA:2645
HP:0000411	Protruding ear	3832	KIF11	ORPHA:2526
HP:0000411	Protruding ear	3832	KIF11	OMIM:152950
HP:0000411	Protruding ear	54676	GTPBP2	OMIM:617988
HP:0000411	Protruding ear	23529	CLCF1	OMIM:610313
HP:0000411	Protruding ear	80267	EDEM3	OMIM:619493
HP:0000411	Protruding ear	1748	DLX4	OMIM:616788
HP:0000411	Protruding ear	51360	MBTPS2	ORPHA:85284
HP:0000411	Protruding ear	5455	POU3F3	OMIM:618604
HP:0000411	Protruding ear	1804	DPP6	ORPHA:2514
HP:0000411	Protruding ear	4001	LMNB1	ORPHA:2514
HP:0000411	Protruding ear	7476	WNT7A	ORPHA:2879
HP:0000411	Protruding ear	85378	TUBGCP6	ORPHA:2518
HP:0000411	Protruding ear	27229	TUBGCP4	ORPHA:2518
HP:0000411	Protruding ear	10733	PLK4	ORPHA:2518
HP:0000411	Protruding ear	84081	NSRP1	OMIM:620001
HP:0000411	Protruding ear	4693	NDP	ORPHA:649
HP:0000411	Protruding ear	4750	NEK1	ORPHA:2751
HP:0000411	Protruding ear	57647	DHX37	OMIM:618731
HP:0000411	Protruding ear	101929726	MYMX	OMIM:619941
HP:0000411	Protruding ear	57728	WDR19	OMIM:614378
HP:0000411	Protruding ear	10844	TUBGCP2	OMIM:618737
HP:0000411	Protruding ear	523	ATP6V1A	OMIM:617403
HP:0000411	Protruding ear	58499	ZNF462	OMIM:618619
HP:0000414	Bulbous nose	2137	EXTL3	ORPHA:508533
HP:0000414	Bulbous nose	11113	CIT	OMIM:617090
HP:0000414	Bulbous nose	7528	YY1	ORPHA:506358
HP:0000414	Bulbous nose	8450	CUL4B	OMIM:300354
HP:0000414	Bulbous nose	27316	RBMX	OMIM:300238
HP:0000414	Bulbous nose	6309	SC5D	ORPHA:46059
HP:0000414	Bulbous nose	8367	H4C5	OMIM:619950
HP:0000414	Bulbous nose	9853	RUSC2	OMIM:617773
HP:0000414	Bulbous nose	83932	SPRTN	OMIM:616200
HP:0000414	Bulbous nose	2132	EXT2	OMIM:616682
HP:0000414	Bulbous nose	2132	EXT2	ORPHA:466926
HP:0000414	Bulbous nose	26128	KIFBP	OMIM:609460
HP:0000414	Bulbous nose	9820	CUL7	ORPHA:2616
HP:0000414	Bulbous nose	23363	OBSL1	ORPHA:2616
HP:0000414	Bulbous nose	83987	CCDC8	ORPHA:2616
HP:0000414	Bulbous nose	673	BRAF	OMIM:115150
HP:0000414	Bulbous nose	55627	SMPD4	OMIM:618622
HP:0000414	Bulbous nose	8854	ALDH1A2	OMIM:620025
HP:0000414	Bulbous nose	5457	POU4F1	ORPHA:314647
HP:0000414	Bulbous nose	23261	CAMTA1	ORPHA:314647
HP:0000414	Bulbous nose	23261	CAMTA1	OMIM:614756
HP:0000414	Bulbous nose	5447	POR	ORPHA:95699
HP:0000414	Bulbous nose	116931	MED12L	OMIM:618872
HP:0000414	Bulbous nose	1278	COL1A2	ORPHA:230851
HP:0000414	Bulbous nose	10300	KATNB1	OMIM:616212
HP:0000414	Bulbous nose	10084	PQBP1	ORPHA:93945
HP:0000414	Bulbous nose	10084	PQBP1	ORPHA:93946
HP:0000414	Bulbous nose	10084	PQBP1	OMIM:309500
HP:0000414	Bulbous nose	4010	LMX1B	ORPHA:495818
HP:0000414	Bulbous nose	6812	STXBP1	ORPHA:495818
HP:0000414	Bulbous nose	55690	PACS1	OMIM:615009
HP:0000414	Bulbous nose	55690	PACS1	ORPHA:329224
HP:0000414	Bulbous nose	23431	AP4E1	OMIM:613744
HP:0000414	Bulbous nose	23431	AP4E1	ORPHA:280763
HP:0000414	Bulbous nose	10978	CLP1	OMIM:615803
HP:0000414	Bulbous nose	284403	WDR62	OMIM:604317
HP:0000414	Bulbous nose	56992	KIF15	ORPHA:261323
HP:0000414	Bulbous nose	56992	KIF15	OMIM:619981
HP:0000414	Bulbous nose	84992	PIGY	ORPHA:247262
HP:0000414	Bulbous nose	84720	PIGO	ORPHA:247262
HP:0000414	Bulbous nose	93210	PGAP3	ORPHA:247262
HP:0000414	Bulbous nose	284098	PIGW	ORPHA:247262
HP:0000414	Bulbous nose	27315	PGAP2	ORPHA:247262
HP:0000414	Bulbous nose	55650	PIGV	ORPHA:247262
HP:0000414	Bulbous nose	9487	PIGL	ORPHA:247262
HP:0000414	Bulbous nose	284058	KANSL1	ORPHA:363958
HP:0000414	Bulbous nose	284058	KANSL1	ORPHA:363965
HP:0000414	Bulbous nose	284058	KANSL1	OMIM:610443
HP:0000414	Bulbous nose	3899	AFF3	OMIM:619297
HP:0000414	Bulbous nose	1889	ECE1	OMIM:613870
HP:0000414	Bulbous nose	23184	MESD	OMIM:618644
HP:0000414	Bulbous nose	55681	SCYL2	OMIM:618766
HP:0000414	Bulbous nose	93627	TBCK	OMIM:616900
HP:0000414	Bulbous nose	93627	TBCK	ORPHA:488632
HP:0000414	Bulbous nose	2200	FBN1	ORPHA:969
HP:0000414	Bulbous nose	2200	FBN1	OMIM:102370
HP:0000414	Bulbous nose	4054	LTBP3	ORPHA:969
HP:0000414	Bulbous nose	4054	LTBP3	OMIM:617809
HP:0000414	Bulbous nose	6872	TAF1	ORPHA:480907
HP:0000414	Bulbous nose	6872	TAF1	OMIM:300966
HP:0000414	Bulbous nose	1193	CLIC2	ORPHA:324410
HP:0000414	Bulbous nose	57231	SNX14	OMIM:616354
HP:0000414	Bulbous nose	23036	ZNF292	OMIM:619188
HP:0000414	Bulbous nose	6885	MAP3K7	OMIM:157800
HP:0000414	Bulbous nose	23314	SATB2	OMIM:612313
HP:0000414	Bulbous nose	6602	SMARCD1	OMIM:618779
HP:0000414	Bulbous nose	526	ATP6V1B2	ORPHA:3473
HP:0000414	Bulbous nose	526	ATP6V1B2	ORPHA:79500
HP:0000414	Bulbous nose	3756	KCNH1	ORPHA:3473
HP:0000414	Bulbous nose	3782	KCNN3	ORPHA:3473
HP:0000414	Bulbous nose	1182	CLCN3	OMIM:619512
HP:0000414	Bulbous nose	10717	AP4B1	OMIM:614066
HP:0000414	Bulbous nose	10717	AP4B1	ORPHA:280763
HP:0000414	Bulbous nose	11154	AP4S1	OMIM:614067
HP:0000414	Bulbous nose	11154	AP4S1	ORPHA:280763
HP:0000414	Bulbous nose	55773	TBC1D23	OMIM:617695
HP:0000414	Bulbous nose	23461	ABCA5	OMIM:135400
HP:0000414	Bulbous nose	6660	SOX5	OMIM:616803
HP:0000414	Bulbous nose	285175	UNC80	OMIM:616801
HP:0000414	Bulbous nose	79753	SNIP1	OMIM:614501
HP:0000414	Bulbous nose	3098	HK1	OMIM:618547
HP:0000414	Bulbous nose	55165	CEP55	OMIM:236500
HP:0000414	Bulbous nose	8085	KMT2D	OMIM:620186
HP:0000414	Bulbous nose	23137	SMC5	OMIM:620185
HP:0000414	Bulbous nose	55343	SLC35C1	OMIM:266265
HP:0000414	Bulbous nose	283209	PGM2L1	OMIM:620191
HP:0000414	Bulbous nose	7750	ZMYM2	OMIM:619522
HP:0000414	Bulbous nose	6942	TCF20	OMIM:618430
HP:0000414	Bulbous nose	92002	CCNQ	ORPHA:140952
HP:0000414	Bulbous nose	4285	MIPEP	OMIM:617228
HP:0000414	Bulbous nose	182	JAG1	OMIM:118450
HP:0000414	Bulbous nose	9993	DGCR2	OMIM:192430
HP:0000414	Bulbous nose	8220	ESS2	OMIM:192430
HP:0000414	Bulbous nose	8214	DGCR6	OMIM:192430
HP:0000414	Bulbous nose	54487	DGCR8	OMIM:192430
HP:0000414	Bulbous nose	6899	TBX1	OMIM:192430
HP:0000414	Bulbous nose	6899	TBX1	ORPHA:567
HP:0000414	Bulbous nose	51322	WAC	ORPHA:284169
HP:0000414	Bulbous nose	51322	WAC	OMIM:616708
HP:0000414	Bulbous nose	51322	WAC	ORPHA:466950
HP:0000414	Bulbous nose	9968	MED12	OMIM:300895
HP:0000414	Bulbous nose	9968	MED12	ORPHA:293707
HP:0000414	Bulbous nose	6611	SMS	OMIM:309583
HP:0000414	Bulbous nose	6611	SMS	ORPHA:3063
HP:0000414	Bulbous nose	79791	FBXO31	OMIM:615979
HP:0000414	Bulbous nose	85440	DOCK7	OMIM:615859
HP:0000414	Bulbous nose	85440	DOCK7	ORPHA:411986
HP:0000414	Bulbous nose	4313	MMP2	OMIM:259600
HP:0000414	Bulbous nose	10195	ALG3	OMIM:601110
HP:0000414	Bulbous nose	6595	SMARCA2	OMIM:601358
HP:0000414	Bulbous nose	8295	TRRAP	OMIM:618454
HP:0000414	Bulbous nose	81570	CLPB	OMIM:616271
HP:0000414	Bulbous nose	8621	CDK13	OMIM:617360
HP:0000414	Bulbous nose	26173	INTS1	OMIM:618571
HP:0000414	Bulbous nose	9427	ECEL1	OMIM:615065
HP:0000414	Bulbous nose	1523	CUX1	OMIM:618330
HP:0000414	Bulbous nose	2702	GJA5	OMIM:612474
HP:0000414	Bulbous nose	2703	GJA8	OMIM:612474
HP:0000414	Bulbous nose	3720	JARID2	OMIM:620098
HP:0000414	Bulbous nose	80816	ASXL3	ORPHA:352577
HP:0000414	Bulbous nose	7227	TRPS1	ORPHA:77258
HP:0000414	Bulbous nose	7227	TRPS1	ORPHA:502
HP:0000414	Bulbous nose	10075	HUWE1	OMIM:309590
HP:0000414	Bulbous nose	23013	SPEN	OMIM:619312
HP:0000414	Bulbous nose	10765	KDM5B	OMIM:618109
HP:0000414	Bulbous nose	117581	TWIST2	OMIM:227260
HP:0000414	Bulbous nose	117581	TWIST2	ORPHA:1231
HP:0000414	Bulbous nose	117581	TWIST2	OMIM:209885
HP:0000414	Bulbous nose	2290	FOXG1	OMIM:613454
HP:0000414	Bulbous nose	2290	FOXG1	ORPHA:261144
HP:0000414	Bulbous nose	85358	SHANK3	OMIM:606232
HP:0000414	Bulbous nose	85358	SHANK3	ORPHA:48652
HP:0000414	Bulbous nose	1302	COL11A2	OMIM:215150
HP:0000414	Bulbous nose	51412	ACTL6B	OMIM:618470
HP:0000414	Bulbous nose	57465	TBC1D24	OMIM:220500
HP:0000414	Bulbous nose	57465	TBC1D24	ORPHA:79500
HP:0000414	Bulbous nose	10847	SRCAP	OMIM:136140
HP:0000414	Bulbous nose	1436	CSF1R	OMIM:618476
HP:0000414	Bulbous nose	29998	BICRA	OMIM:619325
HP:0000414	Bulbous nose	57520	HECW2	OMIM:617268
HP:0000414	Bulbous nose	55209	SETD5	OMIM:615761
HP:0000414	Bulbous nose	23030	KDM4B	OMIM:619320
HP:0000414	Bulbous nose	6492	SIM1	ORPHA:171829
HP:0000414	Bulbous nose	473	RERE	OMIM:616975
HP:0000414	Bulbous nose	4953	ODC1	ORPHA:544488
HP:0000414	Bulbous nose	998	CDC42	OMIM:616737
HP:0000414	Bulbous nose	998	CDC42	ORPHA:487796
HP:0000414	Bulbous nose	30008	EFEMP2	OMIM:614437
HP:0000414	Bulbous nose	23097	CDK19	OMIM:618916
HP:0000414	Bulbous nose	9179	AP4M1	OMIM:612936
HP:0000414	Bulbous nose	9179	AP4M1	ORPHA:280763
HP:0000414	Bulbous nose	9126	SMC3	OMIM:610759
HP:0000414	Bulbous nose	79840	NHEJ1	ORPHA:169079
HP:0000414	Bulbous nose	26224	FBXL3	OMIM:606220
HP:0000414	Bulbous nose	4297	KMT2A	OMIM:605130
HP:0000414	Bulbous nose	55777	MBD5	OMIM:156200
HP:0000414	Bulbous nose	10735	STAG2	OMIM:301022
HP:0000414	Bulbous nose	11253	MAN1B1	OMIM:614202
HP:0000414	Bulbous nose	5831	PYCR1	OMIM:612940
HP:0000414	Bulbous nose	91137	SLC25A46	OMIM:616505
HP:0000414	Bulbous nose	29920	PYCR2	ORPHA:481152
HP:0000414	Bulbous nose	29920	PYCR2	OMIM:616420
HP:0000414	Bulbous nose	3759	KCNJ2	OMIM:170390
HP:0000414	Bulbous nose	3759	KCNJ2	ORPHA:37553
HP:0000414	Bulbous nose	23389	MED13L	ORPHA:369891
HP:0000414	Bulbous nose	23389	MED13L	OMIM:616789
HP:0000414	Bulbous nose	1312	COMT	ORPHA:567
HP:0000414	Bulbous nose	221037	JMJD1C	ORPHA:567
HP:0000414	Bulbous nose	2812	GP1BB	ORPHA:567
HP:0000414	Bulbous nose	6239	RREB1	ORPHA:567
HP:0000414	Bulbous nose	7290	HIRA	ORPHA:567
HP:0000414	Bulbous nose	9632	SEC24C	ORPHA:567
HP:0000414	Bulbous nose	7353	UFD1	ORPHA:567
HP:0000414	Bulbous nose	421	ARVCF	ORPHA:567
HP:0000414	Bulbous nose	1009	CDH11	OMIM:211380
HP:0000414	Bulbous nose	1781	DYNC1I2	OMIM:618492
HP:0000414	Bulbous nose	9496	TBX4	ORPHA:261279
HP:0000414	Bulbous nose	10524	KAT5	OMIM:619103
HP:0000414	Bulbous nose	9757	KMT2B	OMIM:617284
HP:0000414	Bulbous nose	9757	KMT2B	ORPHA:589618
HP:0000414	Bulbous nose	9757	KMT2B	OMIM:619934
HP:0000414	Bulbous nose	22808	MRAS	OMIM:618499
HP:0000414	Bulbous nose	23522	KAT6B	OMIM:603736
HP:0000414	Bulbous nose	23522	KAT6B	ORPHA:3047
HP:0000414	Bulbous nose	1822	ATN1	OMIM:618494
HP:0000414	Bulbous nose	79644	SRD5A3	OMIM:612713
HP:0000414	Bulbous nose	57572	DOCK6	OMIM:614219
HP:0000414	Bulbous nose	158326	FREM1	OMIM:608980
HP:0000414	Bulbous nose	57003	CCDC47	OMIM:618268
HP:0000414	Bulbous nose	6711	SPTBN1	OMIM:619475
HP:0000414	Bulbous nose	26005	C2CD3	ORPHA:434179
HP:0000414	Bulbous nose	10815	CPLX1	OMIM:617976
HP:0000414	Bulbous nose	1859	DYRK1A	OMIM:614104
HP:0000414	Bulbous nose	4329	ALDH6A1	OMIM:614105
HP:0000414	Bulbous nose	80036	TRPM3	OMIM:620224
HP:0000414	Bulbous nose	8405	SPOP	OMIM:618828
HP:0000414	Bulbous nose	8405	SPOP	OMIM:618829
HP:0000414	Bulbous nose	4796	TONSL	OMIM:271510
HP:0000414	Bulbous nose	2131	EXT1	ORPHA:502
HP:0000414	Bulbous nose	80781	COL18A1	OMIM:267750
HP:0000414	Bulbous nose	10682	EBP	OMIM:300960
HP:0000414	Bulbous nose	7204	TRIO	OMIM:617061
HP:0000414	Bulbous nose	8239	USP9X	OMIM:300968
HP:0000414	Bulbous nose	10651	MTX2	OMIM:619127
HP:0000414	Bulbous nose	54870	QRICH1	OMIM:617982
HP:0000414	Bulbous nose	9702	CEP57	OMIM:614114
HP:0000414	Bulbous nose	1654	DDX3X	OMIM:300958
HP:0000414	Bulbous nose	50485	SMARCAL1	OMIM:242900
HP:0000414	Bulbous nose	118924	FRA10AC1	OMIM:620113
HP:0000414	Bulbous nose	1376	CPT2	OMIM:608836
HP:0000414	Bulbous nose	80267	EDEM3	OMIM:619493
HP:0000414	Bulbous nose	2332	FMR1	ORPHA:261483
HP:0000414	Bulbous nose	1984	EIF5A	OMIM:619376
HP:0000414	Bulbous nose	1748	DLX4	OMIM:616788
HP:0000414	Bulbous nose	100151683	RNU4ATAC	ORPHA:2636
HP:0000414	Bulbous nose	54187	NANS	OMIM:610442
HP:0000414	Bulbous nose	84700	MYO18B	OMIM:616549
HP:0000414	Bulbous nose	8777	MPDZ	OMIM:615219
HP:0000414	Bulbous nose	84464	SLX4	OMIM:613951
HP:0000414	Bulbous nose	79583	TMEM231	ORPHA:2752
HP:0000414	Bulbous nose	55181	SMG8	OMIM:619268
HP:0000414	Bulbous nose	10844	TUBGCP2	OMIM:618737
HP:0000414	Bulbous nose	523	ATP6V1A	OMIM:617403
HP:0000414	Bulbous nose	3762	KCNJ5	ORPHA:37553
HP:0000415	Abnormality of the choanae	699	BUB1	OMIM:620183
HP:0000415	Abnormality of the choanae	55165	CEP55	OMIM:236500
HP:0000415	Abnormality of the choanae	80144	FRAS1	OMIM:219000
HP:0000415	Abnormality of the choanae	9401	RECQL4	OMIM:218600
HP:0000415	Abnormality of the choanae	10943	MSL3	OMIM:301032
HP:0000415	Abnormality of the choanae	91179	SCARF2	OMIM:600920
HP:0000415	Abnormality of the choanae	80816	ASXL3	OMIM:615485
HP:0000415	Abnormality of the choanae	26040	SETBP1	OMIM:269150
HP:0000415	Abnormality of the choanae	26040	SETBP1	ORPHA:798
HP:0000415	Abnormality of the choanae	50964	SOST	OMIM:122860
HP:0000415	Abnormality of the choanae	3476	IGBP1	OMIM:300472
HP:0000415	Abnormality of the choanae	3476	IGBP1	ORPHA:52055
HP:0000415	Abnormality of the choanae	2737	GLI3	ORPHA:672
HP:0000415	Abnormality of the choanae	2737	GLI3	OMIM:146510
HP:0000415	Abnormality of the choanae	8243	SMC1A	OMIM:301044
HP:0000415	Abnormality of the choanae	8243	SMC1A	ORPHA:199
HP:0000415	Abnormality of the choanae	4683	NBN	OMIM:251260
HP:0000415	Abnormality of the choanae	2260	FGFR1	OMIM:147950
HP:0000415	Abnormality of the choanae	2260	FGFR1	ORPHA:280200
HP:0000415	Abnormality of the choanae	2260	FGFR1	ORPHA:2645
HP:0000415	Abnormality of the choanae	2260	FGFR1	OMIM:166250
HP:0000415	Abnormality of the choanae	2260	FGFR1	OMIM:101600
HP:0000415	Abnormality of the choanae	2904	GRIN2B	OMIM:613970
HP:0000415	Abnormality of the choanae	5784	PTPN14	OMIM:613611
HP:0000415	Abnormality of the choanae	2261	FGFR3	OMIM:612247
HP:0000415	Abnormality of the choanae	2261	FGFR3	ORPHA:93262
HP:0000415	Abnormality of the choanae	2261	FGFR3	ORPHA:2363
HP:0000415	Abnormality of the choanae	57167	SALL4	OMIM:607323
HP:0000415	Abnormality of the choanae	8626	TP63	OMIM:604292
HP:0000415	Abnormality of the choanae	8626	TP63	ORPHA:1896
HP:0000415	Abnormality of the choanae	5447	POR	ORPHA:95699
HP:0000415	Abnormality of the choanae	5447	POR	OMIM:207410
HP:0000415	Abnormality of the choanae	5447	POR	OMIM:201750
HP:0000415	Abnormality of the choanae	6299	SALL1	OMIM:107480
HP:0000415	Abnormality of the choanae	613	BCR	ORPHA:261330
HP:0000415	Abnormality of the choanae	1399	CRKL	ORPHA:261330
HP:0000415	Abnormality of the choanae	5594	MAPK1	ORPHA:261330
HP:0000415	Abnormality of the choanae	1723	DHODH	OMIM:263750
HP:0000415	Abnormality of the choanae	473	RERE	OMIM:616975
HP:0000415	Abnormality of the choanae	473	RERE	ORPHA:494344
HP:0000415	Abnormality of the choanae	2263	FGFR2	OMIM:207410
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:87
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:93260
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:207
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:93259
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:1555
HP:0000415	Abnormality of the choanae	2263	FGFR2	OMIM:123790
HP:0000415	Abnormality of the choanae	2263	FGFR2	ORPHA:2363
HP:0000415	Abnormality of the choanae	2263	FGFR2	OMIM:101600
HP:0000415	Abnormality of the choanae	2263	FGFR2	OMIM:101200
HP:0000415	Abnormality of the choanae	169792	GLIS3	OMIM:610199
HP:0000415	Abnormality of the choanae	1717	DHCR7	ORPHA:818
HP:0000415	Abnormality of the choanae	999	CDH1	OMIM:119580
HP:0000415	Abnormality of the choanae	55636	CHD7	ORPHA:138
HP:0000415	Abnormality of the choanae	55636	CHD7	OMIM:214800
HP:0000415	Abnormality of the choanae	9723	SEMA3E	ORPHA:138
HP:0000415	Abnormality of the choanae	56975	FAM20C	OMIM:259775
HP:0000415	Abnormality of the choanae	28514	DLL1	ORPHA:280200
HP:0000415	Abnormality of the choanae	2253	FGF8	ORPHA:280200
HP:0000415	Abnormality of the choanae	6496	SIX3	ORPHA:280200
HP:0000415	Abnormality of the choanae	7050	TGIF1	ORPHA:280200
HP:0000415	Abnormality of the choanae	4838	NODAL	ORPHA:280200
HP:0000415	Abnormality of the choanae	6469	SHH	ORPHA:280200
HP:0000415	Abnormality of the choanae	6469	SHH	OMIM:147250
HP:0000415	Abnormality of the choanae	51684	SUFU	ORPHA:280200
HP:0000415	Abnormality of the choanae	7546	ZIC2	ORPHA:280200
HP:0000415	Abnormality of the choanae	2619	GAS1	ORPHA:280200
HP:0000415	Abnormality of the choanae	84976	DISP1	ORPHA:280200
HP:0000415	Abnormality of the choanae	2736	GLI2	ORPHA:280200
HP:0000415	Abnormality of the choanae	8928	FOXH1	ORPHA:280200
HP:0000415	Abnormality of the choanae	5727	PTCH1	ORPHA:280200
HP:0000415	Abnormality of the choanae	50937	CDON	ORPHA:280200
HP:0000415	Abnormality of the choanae	4072	EPCAM	ORPHA:92050
HP:0000415	Abnormality of the choanae	105371045	PERCC1	ORPHA:92050
HP:0000415	Abnormality of the choanae	4784	NFIX	OMIM:602535
HP:0000415	Abnormality of the choanae	4784	NFIX	ORPHA:561
HP:0000415	Abnormality of the choanae	51360	MBTPS2	ORPHA:2273
HP:0000415	Abnormality of the choanae	63925	ZNF335	OMIM:615095
HP:0000415	Abnormality of the choanae	57492	ARID1B	OMIM:135900
HP:0000415	Abnormality of the choanae	25885	POLR1A	OMIM:616462
HP:0000415	Abnormality of the choanae	10606	PAICS	OMIM:619859
HP:0000415	Abnormality of the choanae	9968	MED12	ORPHA:93932
HP:0000415	Abnormality of the choanae	9968	MED12	OMIM:305450
HP:0000415	Abnormality of the choanae	2077	ERF	ORPHA:207
HP:0000415	Abnormality of the choanae	672	BRCA1	ORPHA:84
HP:0000415	Abnormality of the choanae	10459	MAD2L2	ORPHA:84
HP:0000415	Abnormality of the choanae	7516	XRCC2	ORPHA:84
HP:0000415	Abnormality of the choanae	29089	UBE2T	ORPHA:84
HP:0000415	Abnormality of the choanae	675	BRCA2	ORPHA:84
HP:0000415	Abnormality of the choanae	55120	FANCL	ORPHA:84
HP:0000415	Abnormality of the choanae	2177	FANCD2	ORPHA:84
HP:0000415	Abnormality of the choanae	2175	FANCA	ORPHA:84
HP:0000415	Abnormality of the choanae	2187	FANCB	ORPHA:84
HP:0000415	Abnormality of the choanae	2176	FANCC	ORPHA:84
HP:0000415	Abnormality of the choanae	2178	FANCE	ORPHA:84
HP:0000415	Abnormality of the choanae	2188	FANCF	ORPHA:84
HP:0000415	Abnormality of the choanae	2189	FANCG	ORPHA:84
HP:0000415	Abnormality of the choanae	5888	RAD51	ORPHA:84
HP:0000415	Abnormality of the choanae	5889	RAD51C	ORPHA:84
HP:0000415	Abnormality of the choanae	55159	RFWD3	ORPHA:84
HP:0000415	Abnormality of the choanae	83990	BRIP1	ORPHA:84
HP:0000415	Abnormality of the choanae	57697	FANCM	ORPHA:84
HP:0000415	Abnormality of the choanae	79728	PALB2	ORPHA:84
HP:0000415	Abnormality of the choanae	84464	SLX4	ORPHA:84
HP:0000415	Abnormality of the choanae	2072	ERCC4	ORPHA:84
HP:0000415	Abnormality of the choanae	55215	FANCI	ORPHA:84
HP:0000415	Abnormality of the choanae	1312	COMT	ORPHA:567
HP:0000415	Abnormality of the choanae	221037	JMJD1C	ORPHA:567
HP:0000415	Abnormality of the choanae	2812	GP1BB	ORPHA:567
HP:0000415	Abnormality of the choanae	6239	RREB1	ORPHA:567
HP:0000415	Abnormality of the choanae	6899	TBX1	ORPHA:567
HP:0000415	Abnormality of the choanae	7290	HIRA	ORPHA:567
HP:0000415	Abnormality of the choanae	9632	SEC24C	ORPHA:567
HP:0000415	Abnormality of the choanae	7353	UFD1	ORPHA:567
HP:0000415	Abnormality of the choanae	421	ARVCF	ORPHA:567
HP:0000415	Abnormality of the choanae	2304	FOXE1	ORPHA:1226
HP:0000415	Abnormality of the choanae	23347	SMCHD1	OMIM:603457
HP:0000415	Abnormality of the choanae	51729	WBP11	OMIM:619227
HP:0000415	Abnormality of the choanae	9343	EFTUD2	OMIM:610536
HP:0000415	Abnormality of the choanae	23476	BRD4	ORPHA:199
HP:0000415	Abnormality of the choanae	9126	SMC3	ORPHA:199
HP:0000415	Abnormality of the choanae	25836	NIPBL	ORPHA:199
HP:0000415	Abnormality of the choanae	25836	NIPBL	OMIM:122470
HP:0000415	Abnormality of the choanae	55869	HDAC8	ORPHA:199
HP:0000415	Abnormality of the choanae	5885	RAD21	ORPHA:199
HP:0000415	Abnormality of the choanae	9791	PTDSS1	OMIM:151050
HP:0000415	Abnormality of the choanae	9791	PTDSS1	ORPHA:2658
HP:0000415	Abnormality of the choanae	6135	RPL11	OMIM:612562
HP:0000415	Abnormality of the choanae	8239	USP9X	ORPHA:480880
HP:0000415	Abnormality of the choanae	8239	USP9X	OMIM:300968
HP:0000415	Abnormality of the choanae	9289	ADGRG1	ORPHA:98889
HP:0000415	Abnormality of the choanae	5297	PI4KA	ORPHA:98889
HP:0000415	Abnormality of the choanae	27286	SRPX2	ORPHA:98889
HP:0000415	Abnormality of the choanae	8085	KMT2D	OMIM:620186
HP:0000415	Abnormality of the choanae	10907	TXNL4A	OMIM:608572
HP:0000415	Abnormality of the choanae	10653	SPINT2	OMIM:270420
HP:0000415	Abnormality of the choanae	84172	POLR1B	ORPHA:861
HP:0000415	Abnormality of the choanae	9533	POLR1C	ORPHA:861
HP:0000415	Abnormality of the choanae	51082	POLR1D	ORPHA:861
HP:0000415	Abnormality of the choanae	51082	POLR1D	OMIM:613717
HP:0000415	Abnormality of the choanae	6949	TCOF1	ORPHA:861
HP:0000415	Abnormality of the choanae	6949	TCOF1	OMIM:154500
HP:0000415	Abnormality of the choanae	6558	SLC12A2	OMIM:619080
HP:0000415	Abnormality of the choanae	8318	CDC45	OMIM:617063
HP:0000415	Abnormality of the choanae	83737	ITCH	OMIM:613385
HP:0000415	Abnormality of the choanae	83737	ITCH	ORPHA:228426
HP:0000415	Abnormality of the choanae	2255	FGF10	ORPHA:2363
HP:0000415	Abnormality of the choanae	7291	TWIST1	OMIM:617746
HP:0000415	Abnormality of the choanae	6231	RPS26	OMIM:613309
HP:0000415	Abnormality of the choanae	51322	WAC	ORPHA:284169
HP:0000415	Abnormality of the choanae	5745	PTH1R	OMIM:156400
HP:0000415	Abnormality of the choanae	3664	IRF6	ORPHA:1300
HP:0000415	Abnormality of the choanae	4000	LMNA	ORPHA:1662
HP:0000415	Abnormality of the choanae	10269	ZMPSTE24	ORPHA:1662
HP:0000415	Abnormality of the choanae	10269	ZMPSTE24	OMIM:275210
HP:0000415	Abnormality of the choanae	8481	OFD1	ORPHA:2750
HP:0000415	Abnormality of the choanae	7473	WNT3	OMIM:273395
HP:0000415	Abnormality of the choanae	26123	TCTN3	ORPHA:2753
HP:0000415	Abnormality of the choanae	84168	ANTXR1	ORPHA:2067
HP:0000415	Abnormality of the choanae	2542	SLC37A4	OMIM:619525
HP:0000415	Abnormality of the choanae	79633	FAT4	ORPHA:314679
HP:0000415	Abnormality of the choanae	8642	DCHS1	ORPHA:314679
HP:0000417	Slender nose	2074	ERCC6	OMIM:133540
HP:0000417	Slender nose	9401	RECQL4	ORPHA:221016
HP:0000417	Slender nose	9401	RECQL4	OMIM:266280
HP:0000417	Slender nose	259232	NALCN	OMIM:615419
HP:0000417	Slender nose	1161	ERCC8	OMIM:216400
HP:0000418	Narrow nasal ridge	1281	COL3A1	OMIM:130050
HP:0000418	Narrow nasal ridge	1281	COL3A1	OMIM:618343
HP:0000418	Narrow nasal ridge	3187	HNRNPH1	OMIM:620083
HP:0000418	Narrow nasal ridge	6595	SMARCA2	OMIM:619293
HP:0000418	Narrow nasal ridge	4000	LMNA	ORPHA:280365
HP:0000418	Narrow nasal ridge	4000	LMNA	ORPHA:740
HP:0000418	Narrow nasal ridge	4000	LMNA	OMIM:248370
HP:0000418	Narrow nasal ridge	10269	ZMPSTE24	ORPHA:740
HP:0000418	Narrow nasal ridge	10269	ZMPSTE24	OMIM:608612
HP:0000418	Narrow nasal ridge	10269	ZMPSTE24	OMIM:275210
HP:0000418	Narrow nasal ridge	857	CAV1	OMIM:606721
HP:0000418	Narrow nasal ridge	4893	NRAS	OMIM:137550
HP:0000418	Narrow nasal ridge	3265	HRAS	OMIM:137550
HP:0000418	Narrow nasal ridge	10651	MTX2	OMIM:619127
HP:0000418	Narrow nasal ridge	1182	CLCN3	OMIM:619512
HP:0000418	Narrow nasal ridge	113179	ADAT3	ORPHA:363528
HP:0000418	Narrow nasal ridge	54914	FOCAD	OMIM:619991
HP:0000418	Narrow nasal ridge	5831	PYCR1	OMIM:612940
HP:0000418	Narrow nasal ridge	5831	PYCR1	OMIM:614438
HP:0000418	Narrow nasal ridge	5832	ALDH18A1	OMIM:219150
HP:0000418	Narrow nasal ridge	84942	WDR73	OMIM:251300
HP:0000418	Narrow nasal ridge	2200	FBN1	OMIM:616914
HP:0000418	Narrow nasal ridge	11128	POLR3A	OMIM:264090
HP:0000418	Narrow nasal ridge	55165	CEP55	OMIM:236500
HP:0000419	Abnormal nasal septum morphology	4487	MSX1	ORPHA:141291
HP:0000419	Abnormal nasal septum morphology	5818	NECTIN1	ORPHA:141291
HP:0000419	Abnormal nasal septum morphology	8626	TP63	ORPHA:141291
HP:0000419	Abnormal nasal septum morphology	3664	IRF6	ORPHA:141291
HP:0000419	Abnormal nasal septum morphology	101929726	MYMX	OMIM:619941
HP:0000419	Abnormal nasal septum morphology	7020	TFAP2A	OMIM:113620
HP:0000419	Abnormal nasal septum morphology	415	ARSL	OMIM:302950
HP:0000419	Abnormal nasal septum morphology	1387	CREBBP	OMIM:180849
HP:0000419	Abnormal nasal septum morphology	2033	EP300	OMIM:180849
HP:0000419	Abnormal nasal septum morphology	56915	EXOSC5	OMIM:619576
HP:0000419	Abnormal nasal septum morphology	4841	NONO	OMIM:300967
HP:0000419	Abnormal nasal septum morphology	5053	PAH	ORPHA:2209
HP:0000419	Abnormal nasal septum morphology	2263	FGFR2	OMIM:123500
HP:0000419	Abnormal nasal septum morphology	4763	NF1	ORPHA:139474
HP:0000419	Abnormal nasal septum morphology	5727	PTCH1	OMIM:610828
HP:0000419	Abnormal nasal septum morphology	9241	NOG	OMIM:186500
HP:0000419	Abnormal nasal septum morphology	2317	FLNB	OMIM:112310
HP:0000419	Abnormal nasal septum morphology	7050	TGIF1	OMIM:142946
HP:0000419	Abnormal nasal septum morphology	6496	SIX3	OMIM:157170
HP:0000419	Abnormal nasal septum morphology	526	ATP6V1B2	OMIM:616455
HP:0000419	Abnormal nasal septum morphology	6197	RPS6KA3	OMIM:303600
HP:0000419	Abnormal nasal septum morphology	7317	UBA1	OMIM:301054
HP:0000419	Abnormal nasal septum morphology	340061	STING1	OMIM:615934
HP:0010631	Abnormality of the epiphyses of the feet	9451	EIF2AK3	OMIM:226980
HP:0010631	Abnormality of the epiphyses of the feet	415	ARSL	ORPHA:79345
HP:0010631	Abnormality of the epiphyses of the feet	4148	MATN3	ORPHA:93311
HP:0010631	Abnormality of the epiphyses of the feet	1297	COL9A1	ORPHA:166002
HP:0010631	Abnormality of the epiphyses of the feet	1298	COL9A2	ORPHA:166002
HP:0010631	Abnormality of the epiphyses of the feet	1299	COL9A3	ORPHA:166002
HP:0010631	Abnormality of the epiphyses of the feet	23102	TBC1D2B	ORPHA:397973
HP:0010632	Total anosmia	5191	PEX7	OMIM:614879
HP:0010636	Schizencephaly	284403	WDR62	OMIM:604317
HP:0010636	Schizencephaly	57724	EPG5	OMIM:242840
HP:0010636	Schizencephaly	1282	COL4A1	OMIM:175780
HP:0010636	Schizencephaly	2018	EMX2	OMIM:269160
HP:0010636	Schizencephaly	6496	SIX3	OMIM:269160
HP:0010636	Schizencephaly	6469	SHH	OMIM:269160
HP:0010636	Schizencephaly	26153	KIF26A	OMIM:620156
HP:0010636	Schizencephaly	347733	TUBB2B	ORPHA:300573
HP:0010636	Schizencephaly	7471	WNT1	OMIM:615220
HP:0010636	Schizencephaly	1284	COL4A2	OMIM:614483
HP:0010638	Elevated alkaline phosphatase of hepatic origin	2859	GPR35	ORPHA:171
HP:0010638	Elevated alkaline phosphatase of hepatic origin	10507	SEMA4D	ORPHA:171
HP:0010638	Elevated alkaline phosphatase of hepatic origin	4485	MST1	ORPHA:171
HP:0010638	Elevated alkaline phosphatase of hepatic origin	6925	TCF4	ORPHA:171
HP:0200040	Epidermoid cyst	324	APC	ORPHA:261584
HP:0200040	Epidermoid cyst	324	APC	ORPHA:99818
HP:0200040	Epidermoid cyst	324	APC	OMIM:175100
HP:0200040	Epidermoid cyst	324	APC	ORPHA:247806
HP:0200040	Epidermoid cyst	324	APC	ORPHA:79665
HP:0200040	Epidermoid cyst	9702	CEP57	OMIM:614114
HP:0200040	Epidermoid cyst	84168	ANTXR1	OMIM:230740
HP:0200040	Epidermoid cyst	3458	IFNG	ORPHA:805
HP:0200040	Epidermoid cyst	7248	TSC1	ORPHA:805
HP:0200040	Epidermoid cyst	7249	TSC2	ORPHA:805
HP:0200040	Epidermoid cyst	3872	KRT17	OMIM:167210
HP:0200040	Epidermoid cyst	3872	KRT17	ORPHA:2309
HP:0200040	Epidermoid cyst	3868	KRT16	ORPHA:2309
HP:0200040	Epidermoid cyst	3853	KRT6A	ORPHA:2309
HP:0200040	Epidermoid cyst	3854	KRT6B	ORPHA:2309
HP:0200040	Epidermoid cyst	56983	POGLUT1	ORPHA:79145
HP:0200040	Epidermoid cyst	3852	KRT5	ORPHA:79145
HP:0200040	Epidermoid cyst	23509	POFUT1	ORPHA:79145
HP:0200040	Epidermoid cyst	55851	PSENEN	ORPHA:79145
HP:0200040	Epidermoid cyst	1500	CTNND1	ORPHA:1997
HP:0200040	Epidermoid cyst	999	CDH1	ORPHA:1997
HP:0200048	Cyanotic episode	29968	PSAT1	ORPHA:284417
HP:0200048	Cyanotic episode	29968	PSAT1	OMIM:610992
HP:0200048	Cyanotic episode	6335	SCN9A	ORPHA:33069
HP:0200048	Cyanotic episode	6326	SCN2A	ORPHA:33069
HP:0200048	Cyanotic episode	2554	GABRA1	ORPHA:33069
HP:0200048	Cyanotic episode	6323	SCN1A	ORPHA:33069
HP:0200048	Cyanotic episode	6324	SCN1B	ORPHA:33069
HP:0200048	Cyanotic episode	57526	PCDH19	ORPHA:33069
HP:0200048	Cyanotic episode	2566	GABRG2	ORPHA:33069
HP:0200047	Chondritis of pinna	7317	UBA1	OMIM:301054
HP:0200046	Cat cry	1501	CTNND2	ORPHA:281
HP:0200046	Cat cry	9037	SEMA5A	ORPHA:281
HP:0200046	Cat cry	157680	VPS13B	ORPHA:193
HP:0200044	Porokeratosis	267010	RNU12	OMIM:603116
HP:0200044	Porokeratosis	63910	SLC17A9	OMIM:616063
HP:0200044	Porokeratosis	63910	SLC17A9	ORPHA:79152
HP:0200044	Porokeratosis	4598	MVK	OMIM:175900
HP:0200044	Porokeratosis	4598	MVK	ORPHA:79152
HP:0200044	Porokeratosis	4598	MVK	ORPHA:735
HP:0200044	Porokeratosis	10654	PMVK	OMIM:175800
HP:0200044	Porokeratosis	10654	PMVK	ORPHA:735
HP:0200044	Porokeratosis	9401	RECQL4	ORPHA:221016
HP:0200044	Porokeratosis	2224	FDPS	OMIM:616631
HP:0200044	Porokeratosis	2224	FDPS	ORPHA:79152
HP:0200044	Porokeratosis	4597	MVD	ORPHA:79152
HP:0200044	Porokeratosis	4597	MVD	OMIM:614714
HP:0200044	Porokeratosis	64682	ANAPC1	ORPHA:221008
HP:0200043	Verrucae	399	RHOH	OMIM:618307
HP:0200043	Verrucae	920	CD4	OMIM:619238
HP:0200043	Verrucae	1893	ECM1	ORPHA:530
HP:0200043	Verrucae	8517	IKBKG	ORPHA:464
HP:0200043	Verrucae	64421	DCLRE1C	ORPHA:275
HP:0200043	Verrucae	11322	TMC6	OMIM:226400
HP:0200043	Verrucae	11322	TMC6	ORPHA:302
HP:0200043	Verrucae	7852	CXCR4	ORPHA:51636
HP:0200043	Verrucae	7852	CXCR4	OMIM:193670
HP:0200043	Verrucae	10519	CIB1	OMIM:618267
HP:0200043	Verrucae	10519	CIB1	ORPHA:302
HP:0200043	Verrucae	146206	CARMIL2	OMIM:618131
HP:0200043	Verrucae	8547	FCN3	OMIM:613860
HP:0200043	Verrucae	2624	GATA2	OMIM:614038
HP:0200043	Verrucae	10625	IVNS1ABP	OMIM:618969
HP:0200043	Verrucae	3574	IL7	OMIM:618309
HP:0200043	Verrucae	3574	IL7	ORPHA:302
HP:0200043	Verrucae	488	ATP2A2	ORPHA:79151
HP:0200043	Verrucae	54440	SASH3	OMIM:301082
HP:0200043	Verrucae	6789	STK4	OMIM:614868
HP:0200043	Verrucae	147138	TMC8	ORPHA:302
HP:0200043	Verrucae	6929	TCF3	ORPHA:33110
HP:0200043	Verrucae	973	CD79A	ORPHA:33110
HP:0200043	Verrucae	974	CD79B	ORPHA:33110
HP:0200043	Verrucae	3543	IGLL1	ORPHA:33110
HP:0200043	Verrucae	3507	IGHM	ORPHA:33110
HP:0200043	Verrucae	29760	BLNK	ORPHA:33110
HP:0200043	Verrucae	5295	PIK3R1	ORPHA:33110
HP:0200043	Verrucae	56262	LRRC8A	ORPHA:33110
HP:0200043	Verrucae	81704	DOCK8	ORPHA:217390
HP:0200042	Skin ulcer	2161	F12	ORPHA:330
HP:0200042	Skin ulcer	81846	SBF2	ORPHA:99956
HP:0200042	Skin ulcer	25923	ATL3	ORPHA:36386
HP:0200042	Skin ulcer	9517	SPTLC2	ORPHA:36386
HP:0200042	Skin ulcer	51062	ATL1	ORPHA:36386
HP:0200042	Skin ulcer	10558	SPTLC1	OMIM:162400
HP:0200042	Skin ulcer	54463	RETREG1	OMIM:201300
HP:0200042	Skin ulcer	54463	RETREG1	OMIM:613115
HP:0200042	Skin ulcer	65125	WNK1	OMIM:201300
HP:0200042	Skin ulcer	6335	SCN9A	OMIM:201300
HP:0200042	Skin ulcer	547	KIF1A	OMIM:201300
HP:0200042	Skin ulcer	547	KIF1A	OMIM:614213
HP:0200042	Skin ulcer	22948	CCT5	OMIM:256840
HP:0200042	Skin ulcer	22948	CCT5	ORPHA:139578
HP:0200042	Skin ulcer	4358	MPV17	OMIM:256810
HP:0200042	Skin ulcer	4914	NTRK1	OMIM:256800
HP:0200042	Skin ulcer	4803	NGF	OMIM:608654
HP:0200042	Skin ulcer	10312	TCIRG1	ORPHA:486
HP:0200042	Skin ulcer	1991	ELANE	ORPHA:486
HP:0200042	Skin ulcer	2672	GFI1	ORPHA:486
HP:0200042	Skin ulcer	6729	SRP54	ORPHA:486
HP:0200042	Skin ulcer	81570	CLPB	ORPHA:486
HP:0200042	Skin ulcer	9051	PSTPIP1	OMIM:604416
HP:0200042	Skin ulcer	4790	NFKB1	OMIM:616576
HP:0200042	Skin ulcer	90268	OTULIN	OMIM:619986
HP:0200042	Skin ulcer	4210	MEFV	ORPHA:3243
HP:0200042	Skin ulcer	4210	MEFV	OMIM:608068
HP:0200042	Skin ulcer	9948	WDR1	OMIM:150550
HP:0200042	Skin ulcer	26191	PTPN22	ORPHA:397
HP:0200042	Skin ulcer	26191	PTPN22	ORPHA:900
HP:0200042	Skin ulcer	3106	HLA-B	ORPHA:397
HP:0200042	Skin ulcer	3106	HLA-B	ORPHA:3287
HP:0200042	Skin ulcer	3123	HLA-DRB1	ORPHA:397
HP:0200042	Skin ulcer	3123	HLA-DRB1	ORPHA:220402
HP:0200042	Skin ulcer	3123	HLA-DRB1	ORPHA:220393
HP:0200042	Skin ulcer	8974	P4HA2	ORPHA:397
HP:0200042	Skin ulcer	3858	KRT10	ORPHA:312
HP:0200042	Skin ulcer	3848	KRT1	ORPHA:312
HP:0200042	Skin ulcer	3689	ITGB2	OMIM:116920
HP:0200042	Skin ulcer	5238	PGM3	ORPHA:443811
HP:0200042	Skin ulcer	118429	ANTXR2	ORPHA:2176
HP:0200042	Skin ulcer	118429	ANTXR2	ORPHA:2028
HP:0200042	Skin ulcer	6890	TAP1	OMIM:604571
HP:0200042	Skin ulcer	6891	TAP2	OMIM:604571
HP:0200042	Skin ulcer	6892	TAPBP	OMIM:604571
HP:0200042	Skin ulcer	1235	CCR6	ORPHA:220402
HP:0200042	Skin ulcer	1235	CCR6	ORPHA:220393
HP:0200042	Skin ulcer	79932	KIAA0319L	ORPHA:220402
HP:0200042	Skin ulcer	1490	CCN2	ORPHA:220402
HP:0200042	Skin ulcer	1490	CCN2	ORPHA:220393
HP:0200042	Skin ulcer	3663	IRF5	ORPHA:220402
HP:0200042	Skin ulcer	3663	IRF5	ORPHA:220393
HP:0200042	Skin ulcer	857	CAV1	ORPHA:220402
HP:0200042	Skin ulcer	857	CAV1	ORPHA:220393
HP:0200042	Skin ulcer	2038	EPB42	ORPHA:822
HP:0200042	Skin ulcer	6521	SLC4A1	ORPHA:822
HP:0200042	Skin ulcer	6710	SPTB	ORPHA:822
HP:0200042	Skin ulcer	6708	SPTA1	ORPHA:822
HP:0200042	Skin ulcer	286	ANK1	ORPHA:822
HP:0200042	Skin ulcer	362	AQP5	ORPHA:2337
HP:0200042	Skin ulcer	55630	SLC39A4	ORPHA:37
HP:0200042	Skin ulcer	3909	LAMA3	OMIM:245660
HP:0200042	Skin ulcer	9790	BMS1	ORPHA:1114
HP:0200042	Skin ulcer	5339	PLEC	ORPHA:1114
HP:0200042	Skin ulcer	10054	UBA2	ORPHA:1114
HP:0200042	Skin ulcer	3691	ITGB4	ORPHA:1114
HP:0200042	Skin ulcer	54567	DLL4	ORPHA:1114
HP:0200042	Skin ulcer	5184	PEPD	OMIM:170100
HP:0200042	Skin ulcer	5184	PEPD	ORPHA:742
HP:0200042	Skin ulcer	51360	MBTPS2	ORPHA:659
HP:0200042	Skin ulcer	162514	TRPV3	ORPHA:659
HP:0200042	Skin ulcer	64065	PERP	ORPHA:659
HP:0200042	Skin ulcer	3930	LBR	ORPHA:779
HP:0200042	Skin ulcer	1277	COL1A1	ORPHA:31112
HP:0200042	Skin ulcer	5155	PDGFB	ORPHA:31112
HP:0200042	Skin ulcer	4952	OCRL	ORPHA:534
HP:0200042	Skin ulcer	1536	CYBB	ORPHA:379
HP:0200042	Skin ulcer	4688	NCF2	ORPHA:379
HP:0200042	Skin ulcer	1535	CYBA	ORPHA:379
HP:0200042	Skin ulcer	4689	NCF4	ORPHA:379
HP:0200042	Skin ulcer	653361	NCF1	ORPHA:379
HP:0200042	Skin ulcer	79415	CYBC1	ORPHA:379
HP:0200042	Skin ulcer	84196	USP48	ORPHA:96253
HP:0200042	Skin ulcer	7157	TP53	ORPHA:96253
HP:0200042	Skin ulcer	9101	USP8	ORPHA:96253
HP:0200042	Skin ulcer	64072	CDH23	ORPHA:96253
HP:0200042	Skin ulcer	2908	NR3C1	ORPHA:96253
HP:0200042	Skin ulcer	673	BRAF	ORPHA:96253
HP:0200042	Skin ulcer	546	ATRX	ORPHA:96253
HP:0200042	Skin ulcer	5745	PTH1R	ORPHA:296
HP:0200042	Skin ulcer	3418	IDH2	ORPHA:296
HP:0200042	Skin ulcer	3417	IDH1	ORPHA:296
HP:0200042	Skin ulcer	6774	STAT3	ORPHA:2314
HP:0200042	Skin ulcer	5921	RASA1	ORPHA:90307
HP:0200042	Skin ulcer	2632	GBE1	ORPHA:206583
HP:0200042	Skin ulcer	64127	NOD2	OMIM:186580
HP:0200042	Skin ulcer	64127	NOD2	ORPHA:90340
HP:0200042	Skin ulcer	84818	IL17RC	ORPHA:1334
HP:0200042	Skin ulcer	64581	CLEC7A	ORPHA:1334
HP:0200042	Skin ulcer	23765	IL17RA	ORPHA:1334
HP:0200042	Skin ulcer	10758	TRAF3IP2	ORPHA:1334
HP:0200042	Skin ulcer	112744	IL17F	ORPHA:1334
HP:0200042	Skin ulcer	4853	NOTCH2	ORPHA:955
HP:0200042	Skin ulcer	9487	PIGL	ORPHA:3474
HP:0200042	Skin ulcer	4000	LMNA	ORPHA:79474
HP:0200042	Skin ulcer	3043	HBB	ORPHA:231214
HP:0200042	Skin ulcer	3043	HBB	ORPHA:231222
HP:0200042	Skin ulcer	3043	HBB	ORPHA:231226
HP:0200042	Skin ulcer	7454	WAS	ORPHA:906
HP:0200042	Skin ulcer	7456	WIPF1	ORPHA:906
HP:0200042	Skin ulcer	1493	CTLA4	ORPHA:900
HP:0200042	Skin ulcer	1493	CTLA4	ORPHA:2584
HP:0200042	Skin ulcer	3115	HLA-DPB1	ORPHA:900
HP:0200042	Skin ulcer	5657	PRTN3	ORPHA:900
HP:0200042	Skin ulcer	3113	HLA-DPA1	ORPHA:900
HP:0200042	Skin ulcer	7486	WRN	ORPHA:902
HP:0200042	Skin ulcer	5627	PROS1	ORPHA:743
HP:0200042	Skin ulcer	1130	LYST	ORPHA:352723
HP:0200042	Skin ulcer	2776	GNAQ	ORPHA:624
HP:0200042	Skin ulcer	8517	IKBKG	ORPHA:464
HP:0200042	Skin ulcer	51816	ADA2	OMIM:615688
HP:0200042	Skin ulcer	3832	KIF11	ORPHA:2526
HP:0200042	Skin ulcer	8626	TP63	ORPHA:978
HP:0200042	Skin ulcer	695	BTK	ORPHA:47
HP:0200042	Skin ulcer	4854	NOTCH3	ORPHA:2591
HP:0200042	Skin ulcer	5159	PDGFRB	ORPHA:2591
HP:0200042	Skin ulcer	2629	GBA1	ORPHA:2072
HP:0200042	Skin ulcer	84868	HAVCR2	ORPHA:86884
HP:0200042	Skin ulcer	3593	IL12B	ORPHA:3287
HP:0200042	Skin ulcer	6945	MLX	ORPHA:3287
HP:0200042	Skin ulcer	11277	TREX1	OMIM:610448
HP:0200042	Skin ulcer	2050	EPHB4	ORPHA:90186
HP:0200042	Skin ulcer	80169	CTC1	ORPHA:1775
HP:0200042	Skin ulcer	26277	TINF2	ORPHA:1775
HP:0200042	Skin ulcer	55651	NHP2	ORPHA:1775
HP:0200042	Skin ulcer	79650	USB1	ORPHA:1775
HP:0200042	Skin ulcer	55135	WRAP53	ORPHA:1775
HP:0200042	Skin ulcer	51750	RTEL1	ORPHA:1775
HP:0200042	Skin ulcer	4869	NPM1	ORPHA:1775
HP:0200042	Skin ulcer	7012	TERC	ORPHA:1775
HP:0200042	Skin ulcer	55505	NOP10	ORPHA:1775
HP:0200042	Skin ulcer	5073	PARN	ORPHA:1775
HP:0200042	Skin ulcer	7015	TERT	ORPHA:1775
HP:0200042	Skin ulcer	1736	DKC1	ORPHA:1775
HP:0200042	Skin ulcer	7298	TYMS	ORPHA:1775
HP:0200042	Skin ulcer	940	CD28	ORPHA:2584
HP:0200042	Skin ulcer	7133	TNFRSF1B	ORPHA:2584
HP:0200042	Skin ulcer	204	AK2	ORPHA:33355
HP:0200042	Skin ulcer	1281	COL3A1	ORPHA:2500
HP:0200042	Skin ulcer	81704	DOCK8	ORPHA:217390
HP:0200041	Skin erosion	3858	KRT10	OMIM:607602
HP:0200041	Skin erosion	3861	KRT14	ORPHA:89838
HP:0200041	Skin erosion	3861	KRT14	ORPHA:79400
HP:0200041	Skin erosion	5339	PLEC	ORPHA:158684
HP:0200041	Skin erosion	5339	PLEC	ORPHA:79401
HP:0200041	Skin erosion	3691	ITGB4	ORPHA:158684
HP:0200041	Skin erosion	54101	RIPK4	ORPHA:1401
HP:0200041	Skin erosion	4000	LMNA	ORPHA:1662
HP:0200041	Skin erosion	10269	ZMPSTE24	ORPHA:1662
HP:0200041	Skin erosion	10269	ZMPSTE24	OMIM:275210
HP:0200041	Skin erosion	3848	KRT1	OMIM:620148
HP:0200041	Skin erosion	2050	EPHB4	ORPHA:90186
HP:0200041	Skin erosion	3852	KRT5	ORPHA:79400
HP:0200041	Skin erosion	7389	UROD	ORPHA:95159
HP:0200041	Skin erosion	3909	LAMA3	ORPHA:79404
HP:0200041	Skin erosion	3918	LAMC2	ORPHA:79404
HP:0200041	Skin erosion	3914	LAMB3	ORPHA:79404
HP:0200041	Skin erosion	9333	TGM5	ORPHA:263534
HP:0200041	Skin erosion	1475	CSTA	ORPHA:263534
HP:0200041	Skin erosion	1832	DSP	OMIM:609638
HP:0200041	Skin erosion	1893	ECM1	OMIM:247100
HP:0200041	Skin erosion	1294	COL7A1	ORPHA:231568
HP:0200041	Skin erosion	1294	COL7A1	ORPHA:89842
HP:0200041	Skin erosion	1294	COL7A1	ORPHA:79410
HP:0200041	Skin erosion	1294	COL7A1	ORPHA:79411
HP:0200041	Skin erosion	128240	NAXE	OMIM:617186
HP:0200041	Skin erosion	1280	COL2A1	ORPHA:85198
HP:0200041	Skin erosion	5498	PPOX	ORPHA:79473
HP:0200041	Skin erosion	7390	UROS	ORPHA:79277
HP:0200041	Skin erosion	2623	GATA1	ORPHA:79277
HP:0200041	Skin erosion	3815	KIT	ORPHA:79455
HP:0200041	Skin erosion	27032	ATP2C1	ORPHA:2841
HP:0200041	Skin erosion	2767	GNA11	ORPHA:1556
HP:0200041	Skin erosion	151188	ARL6IP6	ORPHA:1556
HP:0200049	Upper limb hypertonia	283989	TSEN54	ORPHA:2524
HP:0200049	Upper limb hypertonia	116461	TSEN15	ORPHA:2524
HP:0200049	Upper limb hypertonia	79042	TSEN34	ORPHA:2524
HP:0200049	Upper limb hypertonia	80746	TSEN2	ORPHA:2524
HP:0200049	Upper limb hypertonia	51091	SEPSECS	ORPHA:2524
HP:0200049	Upper limb hypertonia	55149	MTPAP	OMIM:613672
HP:0200049	Upper limb hypertonia	55149	MTPAP	ORPHA:254343
HP:0200049	Upper limb hypertonia	6687	SPG7	OMIM:607259
HP:0200049	Upper limb hypertonia	137492	VPS37A	ORPHA:319199
HP:0200049	Upper limb hypertonia	137492	VPS37A	OMIM:614898
HP:0200049	Upper limb hypertonia	5010	CLDN11	OMIM:619328
HP:0000420	Short nasal septum	7020	TFAP2A	OMIM:113620
HP:0000420	Short nasal septum	415	ARSL	OMIM:302950
HP:0000421	Epistaxis	26191	PTPN22	ORPHA:397
HP:0000421	Epistaxis	26191	PTPN22	ORPHA:900
HP:0000421	Epistaxis	3106	HLA-B	ORPHA:397
HP:0000421	Epistaxis	3123	HLA-DRB1	ORPHA:397
HP:0000421	Epistaxis	8974	P4HA2	ORPHA:397
HP:0000421	Epistaxis	2157	F8	ORPHA:177926
HP:0000421	Epistaxis	2157	F8	ORPHA:169802
HP:0000421	Epistaxis	2243	FGA	OMIM:202400
HP:0000421	Epistaxis	2243	FGA	ORPHA:98880
HP:0000421	Epistaxis	2243	FGA	ORPHA:98881
HP:0000421	Epistaxis	2243	FGA	ORPHA:101041
HP:0000421	Epistaxis	2244	FGB	OMIM:202400
HP:0000421	Epistaxis	2244	FGB	ORPHA:98880
HP:0000421	Epistaxis	2244	FGB	ORPHA:98881
HP:0000421	Epistaxis	2244	FGB	ORPHA:101041
HP:0000421	Epistaxis	2266	FGG	OMIM:202400
HP:0000421	Epistaxis	2266	FGG	ORPHA:98880
HP:0000421	Epistaxis	2266	FGG	ORPHA:98881
HP:0000421	Epistaxis	2266	FGG	ORPHA:101041
HP:0000421	Epistaxis	87	ACTN1	OMIM:615193
HP:0000421	Epistaxis	2057	EPOR	ORPHA:90042
HP:0000421	Epistaxis	9578	CDC42BPB	OMIM:619841
HP:0000421	Epistaxis	2623	GATA1	OMIM:300367
HP:0000421	Epistaxis	2623	GATA1	OMIM:314050
HP:0000421	Epistaxis	3162	HMOX1	OMIM:614034
HP:0000421	Epistaxis	5568	PRKACG	OMIM:616176
HP:0000421	Epistaxis	2120	ETV6	OMIM:616216
HP:0000421	Epistaxis	4010	LMX1B	ORPHA:495818
HP:0000421	Epistaxis	6812	STXBP1	ORPHA:495818
HP:0000421	Epistaxis	2162	F13A1	OMIM:613225
HP:0000421	Epistaxis	2162	F13A1	ORPHA:331
HP:0000421	Epistaxis	10235	RASGRP2	OMIM:615888
HP:0000421	Epistaxis	90411	MCFD2	OMIM:613625
HP:0000421	Epistaxis	90411	MCFD2	ORPHA:35909
HP:0000421	Epistaxis	2542	SLC37A4	ORPHA:79259
HP:0000421	Epistaxis	23218	NBEAL2	OMIM:139090
HP:0000421	Epistaxis	23218	NBEAL2	ORPHA:721
HP:0000421	Epistaxis	2165	F13B	ORPHA:331
HP:0000421	Epistaxis	63915	BLOC1S5	OMIM:619172
HP:0000421	Epistaxis	2533	FYB1	OMIM:273900
HP:0000421	Epistaxis	3458	IFNG	ORPHA:88
HP:0000421	Epistaxis	5551	PRF1	ORPHA:88
HP:0000421	Epistaxis	7012	TERC	ORPHA:88
HP:0000421	Epistaxis	51119	SBDS	ORPHA:88
HP:0000421	Epistaxis	7015	TERT	ORPHA:88
HP:0000421	Epistaxis	2159	F10	OMIM:227600
HP:0000421	Epistaxis	2159	F10	ORPHA:328
HP:0000421	Epistaxis	51206	GP6	OMIM:614201
HP:0000421	Epistaxis	4352	MPL	ORPHA:729
HP:0000421	Epistaxis	3717	JAK2	ORPHA:729
HP:0000421	Epistaxis	54790	TET2	ORPHA:729
HP:0000421	Epistaxis	2160	F11	ORPHA:329
HP:0000421	Epistaxis	9103	FCGR2C	ORPHA:3002
HP:0000421	Epistaxis	2147	F2	ORPHA:325
HP:0000421	Epistaxis	2147	F2	OMIM:613679
HP:0000421	Epistaxis	2155	F7	ORPHA:327
HP:0000421	Epistaxis	2155	F7	OMIM:227500
HP:0000421	Epistaxis	2153	F5	ORPHA:326
HP:0000421	Epistaxis	2153	F5	OMIM:227400
HP:0000421	Epistaxis	861	RUNX1	OMIM:601399
HP:0000421	Epistaxis	776	CACNA1D	ORPHA:369929
HP:0000421	Epistaxis	55340	GIMAP5	OMIM:619463
HP:0000421	Epistaxis	5328	PLAU	OMIM:601709
HP:0000421	Epistaxis	342618	SLFN14	OMIM:616913
HP:0000421	Epistaxis	4089	SMAD4	OMIM:175050
HP:0000421	Epistaxis	4089	SMAD4	ORPHA:774
HP:0000421	Epistaxis	7454	WAS	OMIM:301000
HP:0000421	Epistaxis	7454	WAS	ORPHA:906
HP:0000421	Epistaxis	7454	WAS	OMIM:313900
HP:0000421	Epistaxis	7450	VWF	OMIM:193400
HP:0000421	Epistaxis	7450	VWF	OMIM:613554
HP:0000421	Epistaxis	7450	VWF	OMIM:277480
HP:0000421	Epistaxis	1053	CEBPE	OMIM:260570
HP:0000421	Epistaxis	2677	GGCX	OMIM:277450
HP:0000421	Epistaxis	2677	GGCX	OMIM:610842
HP:0000421	Epistaxis	3257	HPS1	OMIM:203300
HP:0000421	Epistaxis	83706	FERMT3	OMIM:612840
HP:0000421	Epistaxis	5205	ATP8B1	OMIM:211600
HP:0000421	Epistaxis	7456	WIPF1	ORPHA:906
HP:0000421	Epistaxis	1493	CTLA4	ORPHA:900
HP:0000421	Epistaxis	3115	HLA-DPB1	ORPHA:900
HP:0000421	Epistaxis	5657	PRTN3	ORPHA:900
HP:0000421	Epistaxis	3113	HLA-DPA1	ORPHA:900
HP:0000421	Epistaxis	64805	P2RY12	OMIM:609821
HP:0000421	Epistaxis	5054	SERPINE1	ORPHA:465
HP:0000421	Epistaxis	89781	HPS4	OMIM:614073
HP:0000421	Epistaxis	11234	HPS5	OMIM:614074
HP:0000421	Epistaxis	388552	BLOC1S3	OMIM:614077
HP:0000421	Epistaxis	3998	LMAN1	ORPHA:35909
HP:0000421	Epistaxis	79803	HPS6	OMIM:614075
HP:0000421	Epistaxis	84062	DTNBP1	OMIM:614076
HP:0000421	Epistaxis	6786	STIM1	OMIM:185070
HP:0000421	Epistaxis	2050	EPHB4	ORPHA:137667
HP:0000421	Epistaxis	5921	RASA1	ORPHA:137667
HP:0000421	Epistaxis	6915	TBXA2R	OMIM:614009
HP:0000421	Epistaxis	1181	CLCN2	ORPHA:404
HP:0000421	Epistaxis	1584	CYP11B1	ORPHA:403
HP:0000421	Epistaxis	1585	CYP11B2	ORPHA:403
HP:0000421	Epistaxis	6774	STAT3	ORPHA:520
HP:0000421	Epistaxis	5371	PML	ORPHA:520
HP:0000421	Epistaxis	5914	RARA	ORPHA:520
HP:0000421	Epistaxis	359948	IRF2BP2	ORPHA:520
HP:0000421	Epistaxis	81608	FIP1L1	ORPHA:520
HP:0000421	Epistaxis	4869	NPM1	ORPHA:520
HP:0000421	Epistaxis	5573	PRKAR1A	ORPHA:520
HP:0000421	Epistaxis	54880	BCOR	ORPHA:520
HP:0000421	Epistaxis	64859	NABP1	ORPHA:520
HP:0000421	Epistaxis	6777	STAT5B	ORPHA:520
HP:0000421	Epistaxis	4926	NUMA1	ORPHA:520
HP:0000421	Epistaxis	7704	ZBTB16	ORPHA:520
HP:0000421	Epistaxis	79718	TBL1XR1	ORPHA:520
HP:0000421	Epistaxis	4615	MYD88	ORPHA:33226
HP:0000421	Epistaxis	3762	KCNJ5	ORPHA:251274
HP:0000421	Epistaxis	8328	GFI1B	OMIM:187900
HP:0000421	Epistaxis	94	ACVRL1	OMIM:600376
HP:0000421	Epistaxis	2022	ENG	OMIM:187300
HP:0000421	Epistaxis	2811	GP1BA	ORPHA:274
HP:0000421	Epistaxis	2812	GP1BB	ORPHA:274
HP:0000421	Epistaxis	2815	GP9	ORPHA:274
HP:0000421	Epistaxis	84343	HPS3	OMIM:614072
HP:0000421	Epistaxis	2629	GBA1	ORPHA:2072
HP:0000421	Epistaxis	3674	ITGA2B	ORPHA:849
HP:0000421	Epistaxis	3690	ITGB3	ORPHA:849
HP:0000421	Epistaxis	4627	MYH9	ORPHA:182050
HP:0000421	Epistaxis	1130	LYST	OMIM:214500
HP:0000421	Epistaxis	6714	SRC	OMIM:616937
HP:0000421	Epistaxis	2658	GDF2	OMIM:615506
HP:0000422	Abnormal nasal bridge morphology	3476	IGBP1	OMIM:300472
HP:0000422	Abnormal nasal bridge morphology	3476	IGBP1	ORPHA:52055
HP:0000422	Abnormal nasal bridge morphology	10682	EBP	ORPHA:401973
HP:0000422	Abnormal nasal bridge morphology	10682	EBP	OMIM:300960
HP:0000422	Abnormal nasal bridge morphology	8243	SMC1A	OMIM:300590
HP:0000422	Abnormal nasal bridge morphology	25970	SH2B1	ORPHA:261222
HP:0000422	Abnormal nasal bridge morphology	10262	SF3B4	OMIM:154400
HP:0000422	Abnormal nasal bridge morphology	10262	SF3B4	ORPHA:1788
HP:0000422	Abnormal nasal bridge morphology	8294	H4C9	OMIM:619951
HP:0000422	Abnormal nasal bridge morphology	83932	SPRTN	OMIM:616200
HP:0000422	Abnormal nasal bridge morphology	23135	KDM6B	OMIM:618505
HP:0000422	Abnormal nasal bridge morphology	10274	STAG1	ORPHA:502434
HP:0000422	Abnormal nasal bridge morphology	10274	STAG1	OMIM:617635
HP:0000422	Abnormal nasal bridge morphology	116931	MED12L	OMIM:618872
HP:0000422	Abnormal nasal bridge morphology	9578	CDC42BPB	OMIM:619841
HP:0000422	Abnormal nasal bridge morphology	613	BCR	ORPHA:261330
HP:0000422	Abnormal nasal bridge morphology	1399	CRKL	ORPHA:261330
HP:0000422	Abnormal nasal bridge morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000422	Abnormal nasal bridge morphology	23322	RPGRIP1L	ORPHA:1454
HP:0000422	Abnormal nasal bridge morphology	4867	NPHP1	ORPHA:220497
HP:0000422	Abnormal nasal bridge morphology	4867	NPHP1	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	65062	TMEM237	ORPHA:220497
HP:0000422	Abnormal nasal bridge morphology	65062	TMEM237	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	65062	TMEM237	OMIM:614424
HP:0000422	Abnormal nasal bridge morphology	65062	TMEM237	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	72	ACTG2	ORPHA:2604
HP:0000422	Abnormal nasal bridge morphology	56623	INPP5E	ORPHA:220493
HP:0000422	Abnormal nasal bridge morphology	56623	INPP5E	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	56623	INPP5E	ORPHA:1454
HP:0000422	Abnormal nasal bridge morphology	153241	CEP120	ORPHA:220493
HP:0000422	Abnormal nasal bridge morphology	153241	CEP120	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	95681	CEP41	ORPHA:220493
HP:0000422	Abnormal nasal bridge morphology	95681	CEP41	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	2590	GALNT2	OMIM:618885
HP:0000422	Abnormal nasal bridge morphology	55870	ASH1L	OMIM:617796
HP:0000422	Abnormal nasal bridge morphology	54880	BCOR	ORPHA:2712
HP:0000422	Abnormal nasal bridge morphology	54880	BCOR	OMIM:300166
HP:0000422	Abnormal nasal bridge morphology	1889	ECE1	OMIM:613870
HP:0000422	Abnormal nasal bridge morphology	7994	KAT6A	ORPHA:457193
HP:0000422	Abnormal nasal bridge morphology	7994	KAT6A	OMIM:616268
HP:0000422	Abnormal nasal bridge morphology	157680	VPS13B	OMIM:216550
HP:0000422	Abnormal nasal bridge morphology	157680	VPS13B	ORPHA:193
HP:0000422	Abnormal nasal bridge morphology	222663	SCUBE3	OMIM:619184
HP:0000422	Abnormal nasal bridge morphology	9401	RECQL4	OMIM:218600
HP:0000422	Abnormal nasal bridge morphology	9401	RECQL4	ORPHA:1225
HP:0000422	Abnormal nasal bridge morphology	1327	COX4I1	OMIM:619060
HP:0000422	Abnormal nasal bridge morphology	22884	WDR37	OMIM:618652
HP:0000422	Abnormal nasal bridge morphology	1193	CLIC2	ORPHA:324410
HP:0000422	Abnormal nasal bridge morphology	23314	SATB2	OMIM:612313
HP:0000422	Abnormal nasal bridge morphology	23314	SATB2	ORPHA:251028
HP:0000422	Abnormal nasal bridge morphology	23314	SATB2	ORPHA:251019
HP:0000422	Abnormal nasal bridge morphology	200734	SPRED2	OMIM:619745
HP:0000422	Abnormal nasal bridge morphology	4247	MGAT2	OMIM:212066
HP:0000422	Abnormal nasal bridge morphology	79600	TCTN1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	79848	CSPP1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	65250	CPLANE1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	65250	CPLANE1	ORPHA:2754
HP:0000422	Abnormal nasal bridge morphology	91147	TMEM67	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	91147	TMEM67	ORPHA:1454
HP:0000422	Abnormal nasal bridge morphology	200894	ARL13B	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	9731	CEP104	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	219844	HYLS1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	23247	KATNIP	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	219854	TMEM218	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	9786	KIAA0586	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	79867	TCTN2	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	80776	B9D2	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	10464	PIBF1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	80210	ARMC9	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	25776	CBY1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	27077	B9D1	ORPHA:475
HP:0000422	Abnormal nasal bridge morphology	92482	BBIP1	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	80184	CEP290	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	80184	CEP290	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	11020	IFT27	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	51057	WDPCP	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	27241	BBS9	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	84984	CEP19	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	22954	TRIM32	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	79738	BBS10	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	585	BBS4	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	8195	MKKS	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	54585	LZTFL1	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	55212	BBS7	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	166379	BBS12	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	10806	SDCCAG8	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	129880	BBS5	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	80173	IFT74	ORPHA:110
HP:0000422	Abnormal nasal bridge morphology	7025	NR2F1	ORPHA:401777
HP:0000422	Abnormal nasal bridge morphology	7025	NR2F1	OMIM:615722
HP:0000422	Abnormal nasal bridge morphology	253738	EBF3	OMIM:617330
HP:0000422	Abnormal nasal bridge morphology	26038	CHD5	OMIM:619873
HP:0000422	Abnormal nasal bridge morphology	65109	UPF3B	OMIM:300676
HP:0000422	Abnormal nasal bridge morphology	65109	UPF3B	ORPHA:776
HP:0000422	Abnormal nasal bridge morphology	5063	PAK3	OMIM:300558
HP:0000422	Abnormal nasal bridge morphology	116115	ZNF526	OMIM:619877
HP:0000422	Abnormal nasal bridge morphology	1859	DYRK1A	ORPHA:464311
HP:0000422	Abnormal nasal bridge morphology	1859	DYRK1A	ORPHA:268261
HP:0000422	Abnormal nasal bridge morphology	4089	SMAD4	OMIM:139210
HP:0000422	Abnormal nasal bridge morphology	56098	PCDHGC4	OMIM:619880
HP:0000422	Abnormal nasal bridge morphology	2263	FGFR2	OMIM:123790
HP:0000422	Abnormal nasal bridge morphology	2263	FGFR2	ORPHA:794
HP:0000422	Abnormal nasal bridge morphology	471	ATIC	OMIM:608688
HP:0000422	Abnormal nasal bridge morphology	5373	PMM2	ORPHA:79318
HP:0000422	Abnormal nasal bridge morphology	8242	KDM5C	OMIM:300534
HP:0000422	Abnormal nasal bridge morphology	8242	KDM5C	ORPHA:85279
HP:0000422	Abnormal nasal bridge morphology	23162	MAPK8IP3	OMIM:618443
HP:0000422	Abnormal nasal bridge morphology	6611	SMS	OMIM:309583
HP:0000422	Abnormal nasal bridge morphology	6611	SMS	ORPHA:3063
HP:0000422	Abnormal nasal bridge morphology	85440	DOCK7	OMIM:615859
HP:0000422	Abnormal nasal bridge morphology	85440	DOCK7	ORPHA:411986
HP:0000422	Abnormal nasal bridge morphology	79087	ALG12	ORPHA:79324
HP:0000422	Abnormal nasal bridge morphology	80067	DCAF17	OMIM:241080
HP:0000422	Abnormal nasal bridge morphology	29123	ANKRD11	OMIM:148050
HP:0000422	Abnormal nasal bridge morphology	29123	ANKRD11	ORPHA:2332
HP:0000422	Abnormal nasal bridge morphology	5587	PRKD1	OMIM:617364
HP:0000422	Abnormal nasal bridge morphology	2702	GJA5	OMIM:612474
HP:0000422	Abnormal nasal bridge morphology	2703	GJA8	OMIM:612474
HP:0000422	Abnormal nasal bridge morphology	4212	MEIS2	ORPHA:261190
HP:0000422	Abnormal nasal bridge morphology	6878	TAF6	OMIM:617126
HP:0000422	Abnormal nasal bridge morphology	2261	FGFR3	ORPHA:794
HP:0000422	Abnormal nasal bridge morphology	8925	HERC1	OMIM:617011
HP:0000422	Abnormal nasal bridge morphology	8925	HERC1	ORPHA:457359
HP:0000422	Abnormal nasal bridge morphology	10765	KDM5B	OMIM:618109
HP:0000422	Abnormal nasal bridge morphology	50814	NSDHL	ORPHA:251383
HP:0000422	Abnormal nasal bridge morphology	50814	NSDHL	OMIM:300831
HP:0000422	Abnormal nasal bridge morphology	2334	AFF2	ORPHA:100973
HP:0000422	Abnormal nasal bridge morphology	2334	AFF2	OMIM:309548
HP:0000422	Abnormal nasal bridge morphology	55869	HDAC8	OMIM:300882
HP:0000422	Abnormal nasal bridge morphology	29998	BICRA	OMIM:619325
HP:0000422	Abnormal nasal bridge morphology	51114	ZDHHC9	ORPHA:776
HP:0000422	Abnormal nasal bridge morphology	9126	SMC3	OMIM:610759
HP:0000422	Abnormal nasal bridge morphology	1725	DHPS	OMIM:618480
HP:0000422	Abnormal nasal bridge morphology	4810	NHS	OMIM:302350
HP:0000422	Abnormal nasal bridge morphology	4810	NHS	ORPHA:627
HP:0000422	Abnormal nasal bridge morphology	56915	EXOSC5	OMIM:619576
HP:0000422	Abnormal nasal bridge morphology	63925	ZNF335	OMIM:615095
HP:0000422	Abnormal nasal bridge morphology	79583	TMEM231	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	51524	TMEM138	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	23090	ZNF423	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	51259	TMEM216	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	51259	TMEM216	ORPHA:2754
HP:0000422	Abnormal nasal bridge morphology	57545	CC2D2A	ORPHA:2318
HP:0000422	Abnormal nasal bridge morphology	57545	CC2D2A	ORPHA:1454
HP:0000422	Abnormal nasal bridge morphology	91647	ATPAF2	OMIM:604273
HP:0000422	Abnormal nasal bridge morphology	444	ASPH	OMIM:601552
HP:0000422	Abnormal nasal bridge morphology	8091	HMGA2	ORPHA:94063
HP:0000422	Abnormal nasal bridge morphology	23592	LEMD3	ORPHA:94063
HP:0000422	Abnormal nasal bridge morphology	23594	ORC6	OMIM:613803
HP:0000422	Abnormal nasal bridge morphology	10526	IPO8	OMIM:619472
HP:0000422	Abnormal nasal bridge morphology	8405	SPOP	OMIM:618828
HP:0000422	Abnormal nasal bridge morphology	8405	SPOP	OMIM:618829
HP:0000422	Abnormal nasal bridge morphology	2132	EXT2	ORPHA:52022
HP:0000422	Abnormal nasal bridge morphology	51317	PHF21A	ORPHA:52022
HP:0000422	Abnormal nasal bridge morphology	374879	ZNF699	OMIM:619488
HP:0000422	Abnormal nasal bridge morphology	57038	RARS2	OMIM:611523
HP:0000422	Abnormal nasal bridge morphology	22995	CEP152	OMIM:613823
HP:0000422	Abnormal nasal bridge morphology	4841	NONO	ORPHA:466791
HP:0000422	Abnormal nasal bridge morphology	5879	RAC1	OMIM:617751
HP:0000422	Abnormal nasal bridge morphology	5879	RAC1	ORPHA:500159
HP:0000422	Abnormal nasal bridge morphology	3643	INSR	ORPHA:769
HP:0000422	Abnormal nasal bridge morphology	4683	NBN	ORPHA:647
HP:0000422	Abnormal nasal bridge morphology	26123	TCTN3	ORPHA:2754
HP:0000422	Abnormal nasal bridge morphology	5147	PDE6D	ORPHA:2754
HP:0000422	Abnormal nasal bridge morphology	317662	FAM149B1	ORPHA:2754
HP:0000422	Abnormal nasal bridge morphology	11011	TLK2	OMIM:618050
HP:0000422	Abnormal nasal bridge morphology	375056	MIA3	OMIM:619269
HP:0000422	Abnormal nasal bridge morphology	672	BRCA1	OMIM:617883
HP:0000422	Abnormal nasal bridge morphology	7043	TGFB3	OMIM:615582
HP:0000422	Abnormal nasal bridge morphology	84148	KAT8	OMIM:618974
HP:0000422	Abnormal nasal bridge morphology	11253	MAN1B1	ORPHA:397941
HP:0000422	Abnormal nasal bridge morphology	11253	MAN1B1	OMIM:614202
HP:0000422	Abnormal nasal bridge morphology	8367	H4C5	OMIM:619950
HP:0000422	Abnormal nasal bridge morphology	2697	GJA1	ORPHA:1522
HP:0000422	Abnormal nasal bridge morphology	2697	GJA1	OMIM:218400
HP:0000422	Abnormal nasal bridge morphology	56172	ANKH	ORPHA:1522
HP:0000422	Abnormal nasal bridge morphology	8425	LTBP4	OMIM:613177
HP:0000422	Abnormal nasal bridge morphology	1947	EFNB1	ORPHA:1520
HP:0000422	Abnormal nasal bridge morphology	1947	EFNB1	OMIM:304110
HP:0000422	Abnormal nasal bridge morphology	3703	STT3A	OMIM:619714
HP:0000422	Abnormal nasal bridge morphology	64220	STRA6	OMIM:601186
HP:0000422	Abnormal nasal bridge morphology	55209	SETD5	ORPHA:404440
HP:0000422	Abnormal nasal bridge morphology	55209	SETD5	OMIM:615761
HP:0000422	Abnormal nasal bridge morphology	3190	HNRNPK	ORPHA:453504
HP:0000422	Abnormal nasal bridge morphology	3190	HNRNPK	ORPHA:352665
HP:0000422	Abnormal nasal bridge morphology	2737	GLI3	ORPHA:380
HP:0000422	Abnormal nasal bridge morphology	2737	GLI3	OMIM:175700
HP:0000422	Abnormal nasal bridge morphology	80816	ASXL3	OMIM:615485
HP:0000422	Abnormal nasal bridge morphology	2317	FLNB	OMIM:112310
HP:0000422	Abnormal nasal bridge morphology	5830	PEX5	OMIM:202370
HP:0000422	Abnormal nasal bridge morphology	5830	PEX5	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5830	PEX5	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	51111	KMT5B	OMIM:617788
HP:0000422	Abnormal nasal bridge morphology	79639	TMEM53	OMIM:619727
HP:0000422	Abnormal nasal bridge morphology	65082	VPS33A	OMIM:617303
HP:0000422	Abnormal nasal bridge morphology	318	NUDT2	OMIM:619844
HP:0000422	Abnormal nasal bridge morphology	10084	PQBP1	ORPHA:93946
HP:0000422	Abnormal nasal bridge morphology	10084	PQBP1	OMIM:309500
HP:0000422	Abnormal nasal bridge morphology	129563	DIS3L2	ORPHA:2849
HP:0000422	Abnormal nasal bridge morphology	129563	DIS3L2	OMIM:267000
HP:0000422	Abnormal nasal bridge morphology	23384	SPECC1L	ORPHA:1519
HP:0000422	Abnormal nasal bridge morphology	23384	SPECC1L	OMIM:145420
HP:0000422	Abnormal nasal bridge morphology	3764	KCNJ8	ORPHA:1517
HP:0000422	Abnormal nasal bridge morphology	10060	ABCC9	ORPHA:1517
HP:0000422	Abnormal nasal bridge morphology	10060	ABCC9	OMIM:239850
HP:0000422	Abnormal nasal bridge morphology	57231	SNX14	ORPHA:397709
HP:0000422	Abnormal nasal bridge morphology	50964	SOST	ORPHA:1513
HP:0000422	Abnormal nasal bridge morphology	50964	SOST	OMIM:122860
HP:0000422	Abnormal nasal bridge morphology	50964	SOST	OMIM:269500
HP:0000422	Abnormal nasal bridge morphology	55650	PIGV	OMIM:239300
HP:0000422	Abnormal nasal bridge morphology	55650	PIGV	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	6023	RMRP	ORPHA:175
HP:0000422	Abnormal nasal bridge morphology	83696	TRAPPC9	OMIM:613192
HP:0000422	Abnormal nasal bridge morphology	83696	TRAPPC9	ORPHA:352530
HP:0000422	Abnormal nasal bridge morphology	284058	KANSL1	ORPHA:363958
HP:0000422	Abnormal nasal bridge morphology	284058	KANSL1	ORPHA:363965
HP:0000422	Abnormal nasal bridge morphology	54453	RIN2	OMIM:613075
HP:0000422	Abnormal nasal bridge morphology	3423	IDS	ORPHA:217085
HP:0000422	Abnormal nasal bridge morphology	3423	IDS	ORPHA:217093
HP:0000422	Abnormal nasal bridge morphology	64359	NXN	OMIM:618529
HP:0000422	Abnormal nasal bridge morphology	64359	NXN	ORPHA:1507
HP:0000422	Abnormal nasal bridge morphology	51319	RSRC1	OMIM:618402
HP:0000422	Abnormal nasal bridge morphology	4920	ROR2	ORPHA:1507
HP:0000422	Abnormal nasal bridge morphology	4920	ROR2	OMIM:268310
HP:0000422	Abnormal nasal bridge morphology	3339	HSPG2	ORPHA:1865
HP:0000422	Abnormal nasal bridge morphology	3339	HSPG2	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	3339	HSPG2	OMIM:224410
HP:0000422	Abnormal nasal bridge morphology	2626	GATA4	ORPHA:251071
HP:0000422	Abnormal nasal bridge morphology	171023	ASXL1	ORPHA:97297
HP:0000422	Abnormal nasal bridge morphology	171023	ASXL1	OMIM:605039
HP:0000422	Abnormal nasal bridge morphology	10484	SEC23A	OMIM:607812
HP:0000422	Abnormal nasal bridge morphology	8726	EED	OMIM:617561
HP:0000422	Abnormal nasal bridge morphology	10815	CPLX1	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	10815	CPLX1	OMIM:194190
HP:0000422	Abnormal nasal bridge morphology	54872	PIGG	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	7469	NELFA	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	1487	CTBP1	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	1487	CTBP1	OMIM:194190
HP:0000422	Abnormal nasal bridge morphology	3954	LETM1	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	3954	LETM1	OMIM:194190
HP:0000422	Abnormal nasal bridge morphology	7468	NSD2	ORPHA:280
HP:0000422	Abnormal nasal bridge morphology	7468	NSD2	OMIM:619695
HP:0000422	Abnormal nasal bridge morphology	7468	NSD2	OMIM:194190
HP:0000422	Abnormal nasal bridge morphology	5159	PDGFRB	OMIM:616592
HP:0000422	Abnormal nasal bridge morphology	54968	TMEM70	OMIM:614052
HP:0000422	Abnormal nasal bridge morphology	1501	CTNND2	ORPHA:281
HP:0000422	Abnormal nasal bridge morphology	9037	SEMA5A	ORPHA:281
HP:0000422	Abnormal nasal bridge morphology	4297	KMT2A	ORPHA:319182
HP:0000422	Abnormal nasal bridge morphology	4297	KMT2A	OMIM:605130
HP:0000422	Abnormal nasal bridge morphology	57178	ZMIZ1	OMIM:618659
HP:0000422	Abnormal nasal bridge morphology	5813	PURA	ORPHA:438216
HP:0000422	Abnormal nasal bridge morphology	5813	PURA	OMIM:616158
HP:0000422	Abnormal nasal bridge morphology	93627	TBCK	ORPHA:488632
HP:0000422	Abnormal nasal bridge morphology	3782	KCNN3	OMIM:618658
HP:0000422	Abnormal nasal bridge morphology	8642	DCHS1	OMIM:601390
HP:0000422	Abnormal nasal bridge morphology	8642	DCHS1	ORPHA:314679
HP:0000422	Abnormal nasal bridge morphology	2316	FLNA	ORPHA:90650
HP:0000422	Abnormal nasal bridge morphology	2316	FLNA	ORPHA:1826
HP:0000422	Abnormal nasal bridge morphology	2316	FLNA	OMIM:311300
HP:0000422	Abnormal nasal bridge morphology	2316	FLNA	OMIM:305620
HP:0000422	Abnormal nasal bridge morphology	8241	RBM10	OMIM:311900
HP:0000422	Abnormal nasal bridge morphology	8241	RBM10	ORPHA:2886
HP:0000422	Abnormal nasal bridge morphology	54345	SOX18	OMIM:137940
HP:0000422	Abnormal nasal bridge morphology	57167	SALL4	ORPHA:233
HP:0000422	Abnormal nasal bridge morphology	9935	MAFB	ORPHA:233
HP:0000422	Abnormal nasal bridge morphology	9935	MAFB	ORPHA:2774
HP:0000422	Abnormal nasal bridge morphology	1123	CHN1	ORPHA:233
HP:0000422	Abnormal nasal bridge morphology	11285	B4GALT7	OMIM:130070
HP:0000422	Abnormal nasal bridge morphology	11285	B4GALT7	ORPHA:75496
HP:0000422	Abnormal nasal bridge morphology	56006	SMG9	OMIM:619995
HP:0000422	Abnormal nasal bridge morphology	56006	SMG9	OMIM:616920
HP:0000422	Abnormal nasal bridge morphology	55621	TRMT1	OMIM:618302
HP:0000422	Abnormal nasal bridge morphology	85301	COL27A1	OMIM:615155
HP:0000422	Abnormal nasal bridge morphology	10717	AP4B1	OMIM:614066
HP:0000422	Abnormal nasal bridge morphology	11154	AP4S1	OMIM:614067
HP:0000422	Abnormal nasal bridge morphology	7862	BRPF1	OMIM:617333
HP:0000422	Abnormal nasal bridge morphology	57680	CHD8	OMIM:615032
HP:0000422	Abnormal nasal bridge morphology	8558	CDK10	OMIM:617694
HP:0000422	Abnormal nasal bridge morphology	51633	OTUD6B	OMIM:617452
HP:0000422	Abnormal nasal bridge morphology	1909	EDNRA	OMIM:616367
HP:0000422	Abnormal nasal bridge morphology	5593	PRKG2	OMIM:619636
HP:0000422	Abnormal nasal bridge morphology	150468	CKAP2L	OMIM:272440
HP:0000422	Abnormal nasal bridge morphology	150468	CKAP2L	ORPHA:3255
HP:0000422	Abnormal nasal bridge morphology	5590	PRKCZ	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	2563	GABRD	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	23013	SPEN	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	23013	SPEN	OMIM:619312
HP:0000422	Abnormal nasal bridge morphology	8510	MMP23B	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	7798	LUZP1	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	6497	SKI	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	10630	PDPN	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	10277	UBE4B	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	8514	KCNAB2	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	473	RERE	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	63976	PRDM16	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	54897	CASZ1	ORPHA:1606
HP:0000422	Abnormal nasal bridge morphology	85365	ALG2	ORPHA:79326
HP:0000422	Abnormal nasal bridge morphology	85365	ALG2	OMIM:607906
HP:0000422	Abnormal nasal bridge morphology	5727	PTCH1	OMIM:610828
HP:0000422	Abnormal nasal bridge morphology	5727	PTCH1	ORPHA:377
HP:0000422	Abnormal nasal bridge morphology	5727	PTCH1	OMIM:109400
HP:0000422	Abnormal nasal bridge morphology	26137	ZBTB20	OMIM:259050
HP:0000422	Abnormal nasal bridge morphology	54828	BCAS3	OMIM:619641
HP:0000422	Abnormal nasal bridge morphology	4286	MITF	OMIM:193510
HP:0000422	Abnormal nasal bridge morphology	4286	MITF	ORPHA:897
HP:0000422	Abnormal nasal bridge morphology	7750	ZMYM2	OMIM:619522
HP:0000422	Abnormal nasal bridge morphology	54928	BPNT2	OMIM:614078
HP:0000422	Abnormal nasal bridge morphology	51098	IFT52	OMIM:617102
HP:0000422	Abnormal nasal bridge morphology	9928	KIF14	OMIM:616258
HP:0000422	Abnormal nasal bridge morphology	9772	TMEM94	OMIM:618316
HP:0000422	Abnormal nasal bridge morphology	25973	PARS2	OMIM:618437
HP:0000422	Abnormal nasal bridge morphology	79971	WLS	OMIM:619648
HP:0000422	Abnormal nasal bridge morphology	79633	FAT4	ORPHA:314679
HP:0000422	Abnormal nasal bridge morphology	79633	FAT4	ORPHA:2136
HP:0000422	Abnormal nasal bridge morphology	79633	FAT4	OMIM:615546
HP:0000422	Abnormal nasal bridge morphology	57492	ARID1B	ORPHA:251056
HP:0000422	Abnormal nasal bridge morphology	6925	TCF4	OMIM:610954
HP:0000422	Abnormal nasal bridge morphology	2683	B4GALT1	ORPHA:79332
HP:0000422	Abnormal nasal bridge morphology	57688	ZSWIM6	OMIM:603671
HP:0000422	Abnormal nasal bridge morphology	8643	PTCH2	ORPHA:377
HP:0000422	Abnormal nasal bridge morphology	51684	SUFU	ORPHA:377
HP:0000422	Abnormal nasal bridge morphology	2239	GPC4	ORPHA:373
HP:0000422	Abnormal nasal bridge morphology	2239	GPC4	OMIM:312870
HP:0000422	Abnormal nasal bridge morphology	2719	GPC3	ORPHA:373
HP:0000422	Abnormal nasal bridge morphology	2719	GPC3	OMIM:312870
HP:0000422	Abnormal nasal bridge morphology	55120	FANCL	OMIM:614083
HP:0000422	Abnormal nasal bridge morphology	5077	PAX3	OMIM:193500
HP:0000422	Abnormal nasal bridge morphology	5077	PAX3	OMIM:148820
HP:0000422	Abnormal nasal bridge morphology	5077	PAX3	ORPHA:894
HP:0000422	Abnormal nasal bridge morphology	284098	PIGW	OMIM:616025
HP:0000422	Abnormal nasal bridge morphology	284098	PIGW	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	259232	NALCN	OMIM:616266
HP:0000422	Abnormal nasal bridge morphology	259232	NALCN	ORPHA:2053
HP:0000422	Abnormal nasal bridge morphology	259232	NALCN	ORPHA:1147
HP:0000422	Abnormal nasal bridge morphology	259232	NALCN	ORPHA:371364
HP:0000422	Abnormal nasal bridge morphology	5286	PIK3C2A	OMIM:618440
HP:0000422	Abnormal nasal bridge morphology	5286	PIK3C2A	ORPHA:557003
HP:0000422	Abnormal nasal bridge morphology	8565	YARS1	OMIM:619418
HP:0000422	Abnormal nasal bridge morphology	1107	CHD3	OMIM:618205
HP:0000422	Abnormal nasal bridge morphology	374969	SVBP	OMIM:618569
HP:0000422	Abnormal nasal bridge morphology	6261	RYR1	ORPHA:324581
HP:0000422	Abnormal nasal bridge morphology	7476	WNT7A	OMIM:276820
HP:0000422	Abnormal nasal bridge morphology	6885	MAP3K7	ORPHA:1826
HP:0000422	Abnormal nasal bridge morphology	6885	MAP3K7	OMIM:617137
HP:0000422	Abnormal nasal bridge morphology	6885	MAP3K7	OMIM:157800
HP:0000422	Abnormal nasal bridge morphology	51322	WAC	ORPHA:466950
HP:0000422	Abnormal nasal bridge morphology	6513	SLC2A1	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	8831	SYNGAP1	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	1173	AP2M1	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	6323	SCN1A	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	340533	NEXMIF	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	1106	CHD2	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	6529	SLC6A1	ORPHA:1942
HP:0000422	Abnormal nasal bridge morphology	10195	ALG3	OMIM:601110
HP:0000422	Abnormal nasal bridge morphology	257	ALX3	OMIM:136760
HP:0000422	Abnormal nasal bridge morphology	6135	RPL11	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6138	RPL15	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6229	RPS24	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6125	RPL5	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6204	RPS10	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6224	RPS20	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6165	RPL35A	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	2623	GATA1	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6223	RPS19	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6232	RPS27	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6231	RPS26	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	11224	RPL35	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6160	RPL31	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6218	RPS17	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6201	RPS7	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6201	RPS7	OMIM:612563
HP:0000422	Abnormal nasal bridge morphology	6155	RPL27	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6154	RPL26	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6210	RPS15A	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	90121	TSR2	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6141	RPL18	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6235	RPS29	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6234	RPS28	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	51816	ADA2	ORPHA:124
HP:0000422	Abnormal nasal bridge morphology	6473	SHOX	ORPHA:240
HP:0000422	Abnormal nasal bridge morphology	117581	TWIST2	ORPHA:1807
HP:0000422	Abnormal nasal bridge morphology	117581	TWIST2	ORPHA:1231
HP:0000422	Abnormal nasal bridge morphology	3845	KRAS	OMIM:600268
HP:0000422	Abnormal nasal bridge morphology	54903	MKS1	OMIM:617121
HP:0000422	Abnormal nasal bridge morphology	8295	TRRAP	OMIM:618454
HP:0000422	Abnormal nasal bridge morphology	9742	IFT140	OMIM:266920
HP:0000422	Abnormal nasal bridge morphology	9742	IFT140	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	8621	CDK13	OMIM:617360
HP:0000422	Abnormal nasal bridge morphology	5881	RAC3	OMIM:618577
HP:0000422	Abnormal nasal bridge morphology	26173	INTS1	OMIM:618571
HP:0000422	Abnormal nasal bridge morphology	9851	KIAA0753	OMIM:617127
HP:0000422	Abnormal nasal bridge morphology	9851	KIAA0753	OMIM:619479
HP:0000422	Abnormal nasal bridge morphology	55770	EXOC2	OMIM:619306
HP:0000422	Abnormal nasal bridge morphology	3480	IGF1R	ORPHA:73273
HP:0000422	Abnormal nasal bridge morphology	3480	IGF1R	OMIM:270450
HP:0000422	Abnormal nasal bridge morphology	22827	PUF60	ORPHA:508498
HP:0000422	Abnormal nasal bridge morphology	22827	PUF60	ORPHA:508488
HP:0000422	Abnormal nasal bridge morphology	22827	PUF60	OMIM:615583
HP:0000422	Abnormal nasal bridge morphology	9488	PIGB	OMIM:618580
HP:0000422	Abnormal nasal bridge morphology	51574	LARP7	OMIM:615071
HP:0000422	Abnormal nasal bridge morphology	92840	REEP6	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6094	ROM1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6017	RLBP1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	7401	CLRN1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	24	ABCA4	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	130557	ZNF513	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	582	BBS1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	92211	CDHR1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	23568	ARL2BP	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6121	RPE65	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	54806	AHI1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	54806	AHI1	OMIM:608629
HP:0000422	Abnormal nasal bridge morphology	6101	RP1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	3419	IDH3A	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	4751	NEK2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	346007	EYS	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	8100	IFT88	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	23020	SNRNP200	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	762	CA4	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	138050	HGSNAT	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	196	AHR	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	3614	IMPDH1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	123016	TTC8	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6103	RPGR	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	1406	CRX	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5148	PDE6G	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	26160	IFT172	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	26121	PRPF31	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	583	BBS2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	4117	MAK	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	25794	FSCN2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	375298	CERKL	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	3420	IDH3B	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	57670	KIAA1549	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	7275	TUB	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	24148	PRPF6	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	23418	CRB1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	10461	MERTK	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	57709	SLC7A14	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	768206	PRCD	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	7399	USH2A	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	23370	ARHGEF18	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5949	RBP3	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6010	RHO	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6100	RP9	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	10002	NR2E3	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	9227	LRAT	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	84140	FAM161A	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	55812	SPATA7	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	55624	POMGNT1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	79797	ZNF408	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	403	ARL3	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5145	PDE6A	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	10210	TOPORS	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	8842	PROM1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	9128	PRPF4	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	145226	RDH12	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	50939	IMPG2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	8481	OFD1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	8481	OFD1	OMIM:300804
HP:0000422	Abnormal nasal bridge morphology	8481	OFD1	OMIM:311200
HP:0000422	Abnormal nasal bridge morphology	8481	OFD1	ORPHA:2750
HP:0000422	Abnormal nasal bridge morphology	49855	SCAPER	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	2979	GUCA1B	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	1259	CNGA1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	1258	CNGB1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	60509	AGBL5	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5961	PRPH2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	388939	PCARE	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	7439	BEST1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	9785	DHX38	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	7287	TULP1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5995	RGR	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	9129	PRPF3	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	55975	KLHL7	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	3617	IMPG1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	94137	RP1L1	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	5158	PDE6B	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6102	RP2	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	55857	KIZ	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	64218	SEMA4A	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	4901	NRL	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	157657	CFAP418	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	10594	PRPF8	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	84100	ARL6	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	6295	SAG	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	79947	DHDDS	ORPHA:791
HP:0000422	Abnormal nasal bridge morphology	57459	GATAD2B	OMIM:615074
HP:0000422	Abnormal nasal bridge morphology	6134	RPL10	OMIM:300998
HP:0000422	Abnormal nasal bridge morphology	5898	RALA	OMIM:619311
HP:0000422	Abnormal nasal bridge morphology	10466	COG5	ORPHA:263487
HP:0000422	Abnormal nasal bridge morphology	30000	TNPO2	OMIM:619556
HP:0000422	Abnormal nasal bridge morphology	56896	DPYSL5	OMIM:619435
HP:0000422	Abnormal nasal bridge morphology	54517	PUS7	OMIM:618342
HP:0000422	Abnormal nasal bridge morphology	8573	CASK	OMIM:300749
HP:0000422	Abnormal nasal bridge morphology	8573	CASK	ORPHA:163937
HP:0000422	Abnormal nasal bridge morphology	8573	CASK	OMIM:300422
HP:0000422	Abnormal nasal bridge morphology	6418	SET	OMIM:618106
HP:0000422	Abnormal nasal bridge morphology	2200	FBN1	ORPHA:284979
HP:0000422	Abnormal nasal bridge morphology	5308	PITX2	ORPHA:782
HP:0000422	Abnormal nasal bridge morphology	5308	PITX2	OMIM:180500
HP:0000422	Abnormal nasal bridge morphology	2296	FOXC1	ORPHA:782
HP:0000422	Abnormal nasal bridge morphology	7372	UMPS	ORPHA:30
HP:0000422	Abnormal nasal bridge morphology	2972	BRF1	ORPHA:444072
HP:0000422	Abnormal nasal bridge morphology	650	BMP2	ORPHA:261295
HP:0000422	Abnormal nasal bridge morphology	23114	NFASC	OMIM:618356
HP:0000422	Abnormal nasal bridge morphology	6651	SON	OMIM:617140
HP:0000422	Abnormal nasal bridge morphology	6651	SON	ORPHA:500150
HP:0000422	Abnormal nasal bridge morphology	5649	RELN	ORPHA:89844
HP:0000422	Abnormal nasal bridge morphology	10300	KATNB1	ORPHA:89844
HP:0000422	Abnormal nasal bridge morphology	54820	NDE1	ORPHA:89844
HP:0000422	Abnormal nasal bridge morphology	54820	NDE1	OMIM:614019
HP:0000422	Abnormal nasal bridge morphology	10978	CLP1	ORPHA:411493
HP:0000422	Abnormal nasal bridge morphology	10978	CLP1	OMIM:615803
HP:0000422	Abnormal nasal bridge morphology	63895	PIEZO2	OMIM:617146
HP:0000422	Abnormal nasal bridge morphology	23030	KDM4B	OMIM:619320
HP:0000422	Abnormal nasal bridge morphology	26128	KIFBP	ORPHA:66629
HP:0000422	Abnormal nasal bridge morphology	26128	KIFBP	OMIM:609460
HP:0000422	Abnormal nasal bridge morphology	1908	EDN3	ORPHA:897
HP:0000422	Abnormal nasal bridge morphology	1910	EDNRB	ORPHA:897
HP:0000422	Abnormal nasal bridge morphology	6663	SOX10	ORPHA:897
HP:0000422	Abnormal nasal bridge morphology	6663	SOX10	ORPHA:163746
HP:0000422	Abnormal nasal bridge morphology	8626	TP63	OMIM:106260
HP:0000422	Abnormal nasal bridge morphology	8626	TP63	ORPHA:978
HP:0000422	Abnormal nasal bridge morphology	5934	RBL2	OMIM:619690
HP:0000422	Abnormal nasal bridge morphology	83999	KREMEN1	OMIM:617392
HP:0000422	Abnormal nasal bridge morphology	3039	HBA1	ORPHA:98791
HP:0000422	Abnormal nasal bridge morphology	3040	HBA2	ORPHA:98791
HP:0000422	Abnormal nasal bridge morphology	4621	MYH3	OMIM:193700
HP:0000422	Abnormal nasal bridge morphology	4621	MYH3	ORPHA:2053
HP:0000422	Abnormal nasal bridge morphology	4621	MYH3	ORPHA:1147
HP:0000422	Abnormal nasal bridge morphology	51132	RLIM	OMIM:300978
HP:0000422	Abnormal nasal bridge morphology	153642	ARSK	OMIM:619698
HP:0000422	Abnormal nasal bridge morphology	22930	RAB3GAP1	OMIM:600118
HP:0000422	Abnormal nasal bridge morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000422	Abnormal nasal bridge morphology	2530	FUT8	OMIM:618005
HP:0000422	Abnormal nasal bridge morphology	4052	LTBP1	OMIM:619451
HP:0000422	Abnormal nasal bridge morphology	54496	PRMT7	OMIM:617157
HP:0000422	Abnormal nasal bridge morphology	3756	KCNH1	OMIM:135500
HP:0000422	Abnormal nasal bridge morphology	3756	KCNH1	ORPHA:420561
HP:0000422	Abnormal nasal bridge morphology	8260	NAA10	OMIM:300855
HP:0000422	Abnormal nasal bridge morphology	10082	GPC6	OMIM:258315
HP:0000422	Abnormal nasal bridge morphology	2260	FGFR1	OMIM:190440
HP:0000422	Abnormal nasal bridge morphology	2260	FGFR1	ORPHA:3366
HP:0000422	Abnormal nasal bridge morphology	9969	MED13	OMIM:618009
HP:0000422	Abnormal nasal bridge morphology	23389	MED13L	ORPHA:369891
HP:0000422	Abnormal nasal bridge morphology	1312	COMT	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	221037	JMJD1C	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	2812	GP1BB	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	6239	RREB1	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	6899	TBX1	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	7290	HIRA	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	9632	SEC24C	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	7353	UFD1	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	421	ARVCF	ORPHA:567
HP:0000422	Abnormal nasal bridge morphology	7136	TNNI2	OMIM:601680
HP:0000422	Abnormal nasal bridge morphology	7136	TNNI2	ORPHA:1147
HP:0000422	Abnormal nasal bridge morphology	1009	CDH11	OMIM:211380
HP:0000422	Abnormal nasal bridge morphology	1301	COL11A1	ORPHA:560
HP:0000422	Abnormal nasal bridge morphology	9758	FRMPD4	OMIM:300983
HP:0000422	Abnormal nasal bridge morphology	10297	APC2	OMIM:617169
HP:0000422	Abnormal nasal bridge morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000422	Abnormal nasal bridge morphology	4613	MYCN	OMIM:164280
HP:0000422	Abnormal nasal bridge morphology	79644	SRD5A3	OMIM:612713
HP:0000422	Abnormal nasal bridge morphology	668	FOXL2	OMIM:110100
HP:0000422	Abnormal nasal bridge morphology	668	FOXL2	ORPHA:572333
HP:0000422	Abnormal nasal bridge morphology	5913	RAPSN	OMIM:618388
HP:0000422	Abnormal nasal bridge morphology	8812	CCNK	OMIM:618147
HP:0000422	Abnormal nasal bridge morphology	10847	SRCAP	OMIM:619595
HP:0000422	Abnormal nasal bridge morphology	51604	PIGT	ORPHA:369837
HP:0000422	Abnormal nasal bridge morphology	6711	SPTBN1	OMIM:619475
HP:0000422	Abnormal nasal bridge morphology	1387	CREBBP	OMIM:180849
HP:0000422	Abnormal nasal bridge morphology	2033	EP300	OMIM:180849
HP:0000422	Abnormal nasal bridge morphology	79005	SCNM1	OMIM:620107
HP:0000422	Abnormal nasal bridge morphology	4983	OPHN1	ORPHA:137831
HP:0000422	Abnormal nasal bridge morphology	285590	SH3PXD2B	ORPHA:137834
HP:0000422	Abnormal nasal bridge morphology	5781	PTPN11	ORPHA:500
HP:0000422	Abnormal nasal bridge morphology	673	BRAF	ORPHA:500
HP:0000422	Abnormal nasal bridge morphology	5894	RAF1	ORPHA:500
HP:0000422	Abnormal nasal bridge morphology	526	ATP6V1B2	ORPHA:79500
HP:0000422	Abnormal nasal bridge morphology	57465	TBC1D24	ORPHA:79500
HP:0000422	Abnormal nasal bridge morphology	57465	TBC1D24	OMIM:220500
HP:0000422	Abnormal nasal bridge morphology	2131	EXT1	ORPHA:502
HP:0000422	Abnormal nasal bridge morphology	7227	TRPS1	ORPHA:502
HP:0000422	Abnormal nasal bridge morphology	11198	SUPT16H	OMIM:619480
HP:0000422	Abnormal nasal bridge morphology	84172	POLR1B	ORPHA:861
HP:0000422	Abnormal nasal bridge morphology	9533	POLR1C	ORPHA:861
HP:0000422	Abnormal nasal bridge morphology	51082	POLR1D	ORPHA:861
HP:0000422	Abnormal nasal bridge morphology	6949	TCOF1	ORPHA:861
HP:0000422	Abnormal nasal bridge morphology	4927	NUP88	OMIM:618393
HP:0000422	Abnormal nasal bridge morphology	1457	CSNK2A1	OMIM:617062
HP:0000422	Abnormal nasal bridge morphology	7204	TRIO	OMIM:617061
HP:0000422	Abnormal nasal bridge morphology	2571	GAD1	OMIM:619124
HP:0000422	Abnormal nasal bridge morphology	5189	PEX1	OMIM:601539
HP:0000422	Abnormal nasal bridge morphology	5189	PEX1	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5189	PEX1	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	8239	USP9X	OMIM:300968
HP:0000422	Abnormal nasal bridge morphology	8239	USP9X	ORPHA:480880
HP:0000422	Abnormal nasal bridge morphology	1654	DDX3X	OMIM:300958
HP:0000422	Abnormal nasal bridge morphology	50485	SMARCAL1	OMIM:242900
HP:0000422	Abnormal nasal bridge morphology	745	MYRF	OMIM:618280
HP:0000422	Abnormal nasal bridge morphology	80267	EDEM3	OMIM:619493
HP:0000422	Abnormal nasal bridge morphology	5295	PIK3R1	ORPHA:3163
HP:0000422	Abnormal nasal bridge morphology	5295	PIK3R1	OMIM:269880
HP:0000422	Abnormal nasal bridge morphology	4256	MGP	OMIM:245150
HP:0000422	Abnormal nasal bridge morphology	9487	PIGL	OMIM:280000
HP:0000422	Abnormal nasal bridge morphology	9487	PIGL	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	10020	GNE	ORPHA:3166
HP:0000422	Abnormal nasal bridge morphology	10020	GNE	OMIM:269921
HP:0000422	Abnormal nasal bridge morphology	7474	WNT5A	OMIM:180700
HP:0000422	Abnormal nasal bridge morphology	7474	WNT5A	ORPHA:3107
HP:0000422	Abnormal nasal bridge morphology	1855	DVL1	OMIM:180700
HP:0000422	Abnormal nasal bridge morphology	1855	DVL1	ORPHA:3107
HP:0000422	Abnormal nasal bridge morphology	9897	WASHC5	ORPHA:7
HP:0000422	Abnormal nasal bridge morphology	28952	CCDC22	ORPHA:7
HP:0000422	Abnormal nasal bridge morphology	129285	PPP1R21	OMIM:619383
HP:0000422	Abnormal nasal bridge morphology	114034	TOE1	ORPHA:284339
HP:0000422	Abnormal nasal bridge morphology	114034	TOE1	OMIM:614969
HP:0000422	Abnormal nasal bridge morphology	9562	MINPP1	ORPHA:284339
HP:0000422	Abnormal nasal bridge morphology	27161	AGO2	OMIM:619149
HP:0000422	Abnormal nasal bridge morphology	9652	SKIC3	ORPHA:84064
HP:0000422	Abnormal nasal bridge morphology	6499	SKIC2	ORPHA:84064
HP:0000422	Abnormal nasal bridge morphology	6499	SKIC2	OMIM:614602
HP:0000422	Abnormal nasal bridge morphology	374654	KIF7	ORPHA:166024
HP:0000422	Abnormal nasal bridge morphology	374654	KIF7	OMIM:200990
HP:0000422	Abnormal nasal bridge morphology	374654	KIF7	OMIM:607131
HP:0000422	Abnormal nasal bridge morphology	8085	KMT2D	OMIM:147920
HP:0000422	Abnormal nasal bridge morphology	8085	KMT2D	OMIM:620186
HP:0000422	Abnormal nasal bridge morphology	7403	KDM6A	OMIM:147920
HP:0000422	Abnormal nasal bridge morphology	5573	PRKAR1A	ORPHA:950
HP:0000422	Abnormal nasal bridge morphology	5144	PDE4D	ORPHA:950
HP:0000422	Abnormal nasal bridge morphology	10128	LRPPRC	OMIM:220111
HP:0000422	Abnormal nasal bridge morphology	341640	FREM2	ORPHA:2052
HP:0000422	Abnormal nasal bridge morphology	80144	FRAS1	ORPHA:2052
HP:0000422	Abnormal nasal bridge morphology	80144	FRAS1	OMIM:219000
HP:0000422	Abnormal nasal bridge morphology	23426	GRIP1	ORPHA:2052
HP:0000422	Abnormal nasal bridge morphology	55503	TRPV6	OMIM:618188
HP:0000422	Abnormal nasal bridge morphology	23241	PACS2	OMIM:618067
HP:0000422	Abnormal nasal bridge morphology	23556	PIGN	ORPHA:2059
HP:0000422	Abnormal nasal bridge morphology	5885	RAD21	OMIM:614701
HP:0000422	Abnormal nasal bridge morphology	57539	WDR35	OMIM:613610
HP:0000422	Abnormal nasal bridge morphology	7518	XRCC4	ORPHA:99812
HP:0000422	Abnormal nasal bridge morphology	3981	LIG4	ORPHA:99812
HP:0000422	Abnormal nasal bridge morphology	3981	LIG4	OMIM:606593
HP:0000422	Abnormal nasal bridge morphology	9839	ZEB2	OMIM:235730
HP:0000422	Abnormal nasal bridge morphology	9839	ZEB2	ORPHA:261552
HP:0000422	Abnormal nasal bridge morphology	9839	ZEB2	ORPHA:261537
HP:0000422	Abnormal nasal bridge morphology	4281	MID1	OMIM:300000
HP:0000422	Abnormal nasal bridge morphology	4281	MID1	ORPHA:2745
HP:0000422	Abnormal nasal bridge morphology	8443	GNPAT	OMIM:222765
HP:0000422	Abnormal nasal bridge morphology	22858	CILK1	OMIM:612651
HP:0000422	Abnormal nasal bridge morphology	2314	FLII	ORPHA:819
HP:0000422	Abnormal nasal bridge morphology	23096	IQSEC2	ORPHA:819
HP:0000422	Abnormal nasal bridge morphology	10743	RAI1	ORPHA:819
HP:0000422	Abnormal nasal bridge morphology	10743	RAI1	OMIM:182290
HP:0000422	Abnormal nasal bridge morphology	10522	DEAF1	ORPHA:819
HP:0000422	Abnormal nasal bridge morphology	1717	DHCR7	ORPHA:818
HP:0000422	Abnormal nasal bridge morphology	1717	DHCR7	OMIM:270400
HP:0000422	Abnormal nasal bridge morphology	23431	AP4E1	OMIM:613744
HP:0000422	Abnormal nasal bridge morphology	5818	NECTIN1	ORPHA:3253
HP:0000422	Abnormal nasal bridge morphology	29072	SETD2	OMIM:620157
HP:0000422	Abnormal nasal bridge morphology	29072	SETD2	OMIM:620155
HP:0000422	Abnormal nasal bridge morphology	4758	NEU1	ORPHA:812
HP:0000422	Abnormal nasal bridge morphology	10225	CD96	OMIM:211750
HP:0000422	Abnormal nasal bridge morphology	9382	COG1	OMIM:611209
HP:0000422	Abnormal nasal bridge morphology	9382	COG1	ORPHA:263508
HP:0000422	Abnormal nasal bridge morphology	6595	SMARCA2	OMIM:619293
HP:0000422	Abnormal nasal bridge morphology	84992	PIGY	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	84720	PIGO	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	84720	PIGO	OMIM:614749
HP:0000422	Abnormal nasal bridge morphology	93210	PGAP3	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	93210	PGAP3	OMIM:615716
HP:0000422	Abnormal nasal bridge morphology	27315	PGAP2	ORPHA:247262
HP:0000422	Abnormal nasal bridge morphology	27315	PGAP2	OMIM:614207
HP:0000422	Abnormal nasal bridge morphology	4001	LMNB1	OMIM:619179
HP:0000422	Abnormal nasal bridge morphology	170302	ARX	OMIM:300215
HP:0000422	Abnormal nasal bridge morphology	23522	KAT6B	OMIM:606170
HP:0000422	Abnormal nasal bridge morphology	92579	G6PC3	OMIM:612541
HP:0000422	Abnormal nasal bridge morphology	1509	CTSD	OMIM:610127
HP:0000422	Abnormal nasal bridge morphology	158326	FREM1	ORPHA:3366
HP:0000422	Abnormal nasal bridge morphology	158326	FREM1	OMIM:614485
HP:0000422	Abnormal nasal bridge morphology	8546	AP3B1	OMIM:608233
HP:0000422	Abnormal nasal bridge morphology	6597	SMARCA4	OMIM:614609
HP:0000422	Abnormal nasal bridge morphology	23116	TOGARAM1	OMIM:619185
HP:0000422	Abnormal nasal bridge morphology	860	RUNX2	OMIM:119600
HP:0000422	Abnormal nasal bridge morphology	26053	AUTS2	ORPHA:352490
HP:0000422	Abnormal nasal bridge morphology	26053	AUTS2	OMIM:615834
HP:0000422	Abnormal nasal bridge morphology	4591	TRIM37	OMIM:253250
HP:0000422	Abnormal nasal bridge morphology	4591	TRIM37	ORPHA:2576
HP:0000422	Abnormal nasal bridge morphology	10352	WARS2	ORPHA:572798
HP:0000422	Abnormal nasal bridge morphology	23545	ATP6V0A2	OMIM:278250
HP:0000422	Abnormal nasal bridge morphology	1954	MEGF8	OMIM:614976
HP:0000422	Abnormal nasal bridge morphology	7020	TFAP2A	ORPHA:1297
HP:0000422	Abnormal nasal bridge morphology	2752	GLUL	OMIM:610015
HP:0000422	Abnormal nasal bridge morphology	25942	SIN3A	OMIM:613406
HP:0000422	Abnormal nasal bridge morphology	5193	PEX12	OMIM:614859
HP:0000422	Abnormal nasal bridge morphology	5193	PEX12	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5193	PEX12	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	3425	IDUA	OMIM:607014
HP:0000422	Abnormal nasal bridge morphology	3425	IDUA	ORPHA:93473
HP:0000422	Abnormal nasal bridge morphology	175	AGA	ORPHA:93
HP:0000422	Abnormal nasal bridge morphology	53834	FGFRL1	OMIM:194190
HP:0000422	Abnormal nasal bridge morphology	4853	NOTCH2	ORPHA:955
HP:0000422	Abnormal nasal bridge morphology	9653	HS2ST1	OMIM:619194
HP:0000422	Abnormal nasal bridge morphology	1857	DVL3	ORPHA:3107
HP:0000422	Abnormal nasal bridge morphology	1857	DVL3	OMIM:616894
HP:0000422	Abnormal nasal bridge morphology	2535	FZD2	ORPHA:3107
HP:0000422	Abnormal nasal bridge morphology	2535	FZD2	OMIM:164745
HP:0000422	Abnormal nasal bridge morphology	9508	ADAMTS3	ORPHA:2136
HP:0000422	Abnormal nasal bridge morphology	147372	CCBE1	ORPHA:2136
HP:0000422	Abnormal nasal bridge morphology	147372	CCBE1	OMIM:235510
HP:0000422	Abnormal nasal bridge morphology	6660	SOX5	OMIM:616803
HP:0000422	Abnormal nasal bridge morphology	6804	STX1A	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	7461	CLIP2	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	84277	DNAJC30	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	8468	FKBP6	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	5982	RFC2	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	2969	GTF2I	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	3984	LIMK1	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	9569	GTF2IRD1	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	155382	VPS37D	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	155368	METTL27	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	114049	BUD23	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	7458	EIF4H	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	84163	GTF2IRD2	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	9275	BCL7B	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	26608	TBL2	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	653361	NCF1	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	135886	TMEM270	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	51085	MLXIPL	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	9031	BAZ1B	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	2006	ELN	ORPHA:904
HP:0000422	Abnormal nasal bridge morphology	54499	TMCO1	OMIM:213980
HP:0000422	Abnormal nasal bridge morphology	10236	HNRNPR	OMIM:620073
HP:0000422	Abnormal nasal bridge morphology	51611	DPH5	OMIM:620070
HP:0000422	Abnormal nasal bridge morphology	78989	COLEC11	OMIM:265050
HP:0000422	Abnormal nasal bridge morphology	5594	MAPK1	OMIM:619087
HP:0000422	Abnormal nasal bridge morphology	5192	PEX10	OMIM:614870
HP:0000422	Abnormal nasal bridge morphology	5192	PEX10	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5192	PEX10	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	92002	CCNQ	ORPHA:140952
HP:0000422	Abnormal nasal bridge morphology	5591	PRKDC	OMIM:615966
HP:0000422	Abnormal nasal bridge morphology	388015	RTL1	ORPHA:96334
HP:0000422	Abnormal nasal bridge morphology	8788	DLK1	ORPHA:96334
HP:0000422	Abnormal nasal bridge morphology	55384	MEG3	ORPHA:96334
HP:0000422	Abnormal nasal bridge morphology	55343	SLC35C1	ORPHA:99843
HP:0000422	Abnormal nasal bridge morphology	9342	SNAP29	OMIM:609528
HP:0000422	Abnormal nasal bridge morphology	55670	PEX26	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	55670	PEX26	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	5824	PEX19	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5824	PEX19	OMIM:614886
HP:0000422	Abnormal nasal bridge morphology	5824	PEX19	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	5828	PEX2	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5828	PEX2	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	8504	PEX3	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	8504	PEX3	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	9409	PEX16	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	9409	PEX16	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	5190	PEX6	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5190	PEX6	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	8799	PEX11B	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	8799	PEX11B	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	5194	PEX13	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5194	PEX13	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	5195	PEX14	ORPHA:44
HP:0000422	Abnormal nasal bridge morphology	5195	PEX14	OMIM:614887
HP:0000422	Abnormal nasal bridge morphology	5195	PEX14	ORPHA:912
HP:0000422	Abnormal nasal bridge morphology	7355	SLC35A2	OMIM:300896
HP:0000422	Abnormal nasal bridge morphology	9968	MED12	OMIM:300895
HP:0000422	Abnormal nasal bridge morphology	546	ATRX	OMIM:309580
HP:0000422	Abnormal nasal bridge morphology	7140	TNNT3	ORPHA:1147
HP:0000422	Abnormal nasal bridge morphology	7169	TPM2	ORPHA:1147
HP:0000422	Abnormal nasal bridge morphology	79791	FBXO31	OMIM:615979
HP:0000422	Abnormal nasal bridge morphology	6509	SLC1A4	ORPHA:447997
HP:0000422	Abnormal nasal bridge morphology	157570	ESCO2	OMIM:268300
HP:0000422	Abnormal nasal bridge morphology	2245	FGD1	ORPHA:915
HP:0000422	Abnormal nasal bridge morphology	2245	FGD1	OMIM:305400
HP:0000422	Abnormal nasal bridge morphology	90417	KNSTRN	OMIM:613328
HP:0000422	Abnormal nasal bridge morphology	90417	KNSTRN	ORPHA:221139
HP:0000422	Abnormal nasal bridge morphology	5293	PIK3CD	OMIM:613328
HP:0000422	Abnormal nasal bridge morphology	5293	PIK3CD	ORPHA:221139
HP:0000422	Abnormal nasal bridge morphology	55081	IFT57	OMIM:617927
HP:0000422	Abnormal nasal bridge morphology	3720	JARID2	OMIM:620098
HP:0000422	Abnormal nasal bridge morphology	4000	LMNA	ORPHA:2229
HP:0000422	Abnormal nasal bridge morphology	4054	LTBP3	OMIM:617809
HP:0000422	Abnormal nasal bridge morphology	6309	SC5D	OMIM:607330
HP:0000422	Abnormal nasal bridge morphology	60529	ALX4	OMIM:613451
HP:0000422	Abnormal nasal bridge morphology	9698	PUM1	OMIM:617931
HP:0000422	Abnormal nasal bridge morphology	23394	ADNP	OMIM:615873
HP:0000422	Abnormal nasal bridge morphology	8092	ALX1	OMIM:613456
HP:0000422	Abnormal nasal bridge morphology	8092	ALX1	ORPHA:306542
HP:0000422	Abnormal nasal bridge morphology	85358	SHANK3	OMIM:606232
HP:0000422	Abnormal nasal bridge morphology	85358	SHANK3	ORPHA:48652
HP:0000422	Abnormal nasal bridge morphology	23028	KDM1A	OMIM:616728
HP:0000422	Abnormal nasal bridge morphology	23028	KDM1A	ORPHA:477993
HP:0000422	Abnormal nasal bridge morphology	5859	QARS1	OMIM:615760
HP:0000422	Abnormal nasal bridge morphology	5160	PDHA1	OMIM:312170
HP:0000422	Abnormal nasal bridge morphology	10525	HYOU1	OMIM:233600
HP:0000422	Abnormal nasal bridge morphology	4893	NRAS	OMIM:613224
HP:0000422	Abnormal nasal bridge morphology	998	CDC42	OMIM:616737
HP:0000422	Abnormal nasal bridge morphology	998	CDC42	ORPHA:487796
HP:0000422	Abnormal nasal bridge morphology	3097	HIVEP2	OMIM:616977
HP:0000422	Abnormal nasal bridge morphology	5915	RARB	OMIM:615524
HP:0000422	Abnormal nasal bridge morphology	10982	MAPRE2	OMIM:616734
HP:0000422	Abnormal nasal bridge morphology	5053	PAH	ORPHA:2209
HP:0000422	Abnormal nasal bridge morphology	26224	FBXL3	OMIM:606220
HP:0000422	Abnormal nasal bridge morphology	10735	STAG2	OMIM:301022
HP:0000422	Abnormal nasal bridge morphology	10265	IRX5	OMIM:611174
HP:0000422	Abnormal nasal bridge morphology	6774	STAT3	ORPHA:2314
HP:0000422	Abnormal nasal bridge morphology	2068	ERCC2	ORPHA:1466
HP:0000422	Abnormal nasal bridge morphology	2067	ERCC1	ORPHA:1466
HP:0000422	Abnormal nasal bridge morphology	2074	ERCC6	ORPHA:1466
HP:0000422	Abnormal nasal bridge morphology	2073	ERCC5	ORPHA:1466
HP:0000422	Abnormal nasal bridge morphology	5925	RB1	ORPHA:1587
HP:0000422	Abnormal nasal bridge morphology	23511	NUP188	OMIM:618804
HP:0000422	Abnormal nasal bridge morphology	55603	TENT5A	OMIM:617952
HP:0000422	Abnormal nasal bridge morphology	1063	CENPF	OMIM:243605
HP:0000422	Abnormal nasal bridge morphology	55764	IFT122	OMIM:218330
HP:0000422	Abnormal nasal bridge morphology	2248	FGF3	ORPHA:90024
HP:0000422	Abnormal nasal bridge morphology	54539	NDUFB11	ORPHA:2556
HP:0000422	Abnormal nasal bridge morphology	1349	COX7B	ORPHA:2556
HP:0000422	Abnormal nasal bridge morphology	3052	HCCS	ORPHA:2556
HP:0000422	Abnormal nasal bridge morphology	9241	NOG	OMIM:186500
HP:0000422	Abnormal nasal bridge morphology	5718	PSMD12	ORPHA:529962
HP:0000422	Abnormal nasal bridge morphology	2186	BPTF	ORPHA:529962
HP:0000422	Abnormal nasal bridge morphology	7421	VDR	OMIM:277440
HP:0000422	Abnormal nasal bridge morphology	55210	ATAD3A	OMIM:618810
HP:0000422	Abnormal nasal bridge morphology	139285	AMER1	ORPHA:2780
HP:0000422	Abnormal nasal bridge morphology	139285	AMER1	OMIM:300373
HP:0000422	Abnormal nasal bridge morphology	2313	FLI1	ORPHA:2308
HP:0000422	Abnormal nasal bridge morphology	60	ACTB	OMIM:243310
HP:0000422	Abnormal nasal bridge morphology	60	ACTB	ORPHA:2995
HP:0000422	Abnormal nasal bridge morphology	1861	TOR1A	OMIM:618947
HP:0000422	Abnormal nasal bridge morphology	23040	MYT1L	OMIM:616521
HP:0000422	Abnormal nasal bridge morphology	25885	POLR1A	ORPHA:1200
HP:0000422	Abnormal nasal bridge morphology	10907	TXNL4A	ORPHA:1200
HP:0000422	Abnormal nasal bridge morphology	91461	PKDCC	OMIM:618821
HP:0000422	Abnormal nasal bridge morphology	285175	UNC80	ORPHA:371364
HP:0000422	Abnormal nasal bridge morphology	25914	RTTN	ORPHA:468631
HP:0000422	Abnormal nasal bridge morphology	55617	TASP1	OMIM:618950
HP:0000422	Abnormal nasal bridge morphology	5075	PAX1	OMIM:615560
HP:0000422	Abnormal nasal bridge morphology	114928	GPRASP2	OMIM:301018
HP:0000422	Abnormal nasal bridge morphology	92335	STRADA	OMIM:611087
HP:0000422	Abnormal nasal bridge morphology	6911	TBX6	ORPHA:1797
HP:0000422	Abnormal nasal bridge morphology	202018	TAPT1	OMIM:616897
HP:0000422	Abnormal nasal bridge morphology	3832	KIF11	ORPHA:2526
HP:0000422	Abnormal nasal bridge morphology	7291	TWIST1	OMIM:617746
HP:0000422	Abnormal nasal bridge morphology	6591	SNAI2	ORPHA:2884
HP:0000422	Abnormal nasal bridge morphology	3815	KIT	ORPHA:2884
HP:0000422	Abnormal nasal bridge morphology	51	ACOX1	OMIM:264470
HP:0000422	Abnormal nasal bridge morphology	4094	MAF	OMIM:601088
HP:0000422	Abnormal nasal bridge morphology	95	ACY1	OMIM:609924
HP:0000422	Abnormal nasal bridge morphology	54888	NSUN2	OMIM:611091
HP:0000422	Abnormal nasal bridge morphology	387	RHOA	OMIM:618727
HP:0000422	Abnormal nasal bridge morphology	5116	PCNT	ORPHA:2637
HP:0000422	Abnormal nasal bridge morphology	85378	TUBGCP6	ORPHA:2518
HP:0000422	Abnormal nasal bridge morphology	27229	TUBGCP4	ORPHA:2518
HP:0000422	Abnormal nasal bridge morphology	10733	PLK4	ORPHA:2518
HP:0000422	Abnormal nasal bridge morphology	4750	NEK1	ORPHA:2751
HP:0000422	Abnormal nasal bridge morphology	3778	KCNMA1	OMIM:618729
HP:0000422	Abnormal nasal bridge morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000422	Abnormal nasal bridge morphology	22931	RAB18	ORPHA:2510
HP:0000422	Abnormal nasal bridge morphology	128637	TBC1D20	ORPHA:2510
HP:0000422	Abnormal nasal bridge morphology	71	ACTG1	ORPHA:2995
HP:0000422	Abnormal nasal bridge morphology	4204	MECP2	OMIM:300260
HP:0000422	Abnormal nasal bridge morphology	11133	KPTN	ORPHA:397612
HP:0000422	Abnormal nasal bridge morphology	55553	SOX6	OMIM:618971
HP:0000422	Abnormal nasal bridge morphology	5087	PBX1	OMIM:617641
HP:0000422	Abnormal nasal bridge morphology	92935	MARS2	OMIM:616430
HP:0000422	Abnormal nasal bridge morphology	523	ATP6V1A	OMIM:617403
HP:0000422	Abnormal nasal bridge morphology	57728	WDR19	OMIM:614376
HP:0000422	Abnormal nasal bridge morphology	3762	KCNJ5	ORPHA:37553
HP:0000422	Abnormal nasal bridge morphology	3759	KCNJ2	ORPHA:37553
HP:0000422	Abnormal nasal bridge morphology	9990	SLC12A6	OMIM:218000
HP:0000422	Abnormal nasal bridge morphology	28514	DLL1	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	6496	SIX3	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	4838	NODAL	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	2619	GAS1	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	84976	DISP1	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	8928	FOXH1	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	50937	CDON	ORPHA:280200
HP:0000422	Abnormal nasal bridge morphology	64840	PORCN	OMIM:305600
HP:0000422	Abnormal nasal bridge morphology	64840	PORCN	ORPHA:2092
HP:0000422	Abnormal nasal bridge morphology	3763	KCNJ6	ORPHA:435628
HP:0000422	Abnormal nasal bridge morphology	3763	KCNJ6	OMIM:614098
HP:0000422	Abnormal nasal bridge morphology	4193	MDM2	OMIM:618681
HP:0000422	Abnormal nasal bridge morphology	4781	NFIB	OMIM:618286
HP:0000422	Abnormal nasal bridge morphology	54551	MAGEL2	ORPHA:398069
HP:0000422	Abnormal nasal bridge morphology	54551	MAGEL2	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	8200	GDF5	ORPHA:2639
HP:0000422	Abnormal nasal bridge morphology	658	BMPR1B	ORPHA:2639
HP:0000422	Abnormal nasal bridge morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0000422	Abnormal nasal bridge morphology	4693	NDP	ORPHA:649
HP:0000422	Abnormal nasal bridge morphology	7681	MKRN3	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	3653	IPW	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	791114	PWRN1	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	100033413	SNORD116-1	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	8924	HERC2	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	145624	PWAR1	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	23742	NPAP1	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	338433	SNORD115-1	OMIM:176270
HP:0000422	Abnormal nasal bridge morphology	4313	MMP2	OMIM:259600
HP:0000422	Abnormal nasal bridge morphology	25839	COG4	OMIM:618150
HP:0000422	Abnormal nasal bridge morphology	25839	COG4	ORPHA:85172
HP:0000422	Abnormal nasal bridge morphology	1281	COL3A1	ORPHA:286
HP:0000422	Abnormal nasal bridge morphology	11342	RNF13	OMIM:618379
HP:0000422	Abnormal nasal bridge morphology	11342	RNF13	ORPHA:544503
HP:0000422	Abnormal nasal bridge morphology	51305	KCNK9	ORPHA:166108
HP:0000422	Abnormal nasal bridge morphology	6638	SNRPN	ORPHA:177907
HP:0000422	Abnormal nasal bridge morphology	4854	NOTCH3	OMIM:130720
HP:0000422	Abnormal nasal bridge morphology	2137	EXTL3	ORPHA:508533
HP:0000422	Abnormal nasal bridge morphology	2137	EXTL3	OMIM:617425
HP:0000422	Abnormal nasal bridge morphology	23019	CNOT1	OMIM:618500
HP:0000422	Abnormal nasal bridge morphology	28981	IFT81	OMIM:617895
HP:0000422	Abnormal nasal bridge morphology	50651	SLC45A1	OMIM:617532
HP:0000422	Abnormal nasal bridge morphology	5728	PTEN	OMIM:605309
HP:0000422	Abnormal nasal bridge morphology	5728	PTEN	ORPHA:744
HP:0000422	Abnormal nasal bridge morphology	5728	PTEN	ORPHA:79076
HP:0000422	Abnormal nasal bridge morphology	54101	RIPK4	ORPHA:1401
HP:0000422	Abnormal nasal bridge morphology	6228	RPS23	OMIM:617412
HP:0000422	Abnormal nasal bridge morphology	55627	SMPD4	OMIM:618622
HP:0000422	Abnormal nasal bridge morphology	7360	UGP2	OMIM:618744
HP:0000422	Abnormal nasal bridge morphology	4897	NRCAM	OMIM:619833
HP:0000422	Abnormal nasal bridge morphology	5361	PLXNA1	OMIM:619955
HP:0000422	Abnormal nasal bridge morphology	4125	MAN2B1	ORPHA:309282
HP:0000422	Abnormal nasal bridge morphology	6662	SOX9	ORPHA:140
HP:0000422	Abnormal nasal bridge morphology	6662	SOX9	OMIM:114290
HP:0000422	Abnormal nasal bridge morphology	3020	H3-3A	OMIM:619720
HP:0000422	Abnormal nasal bridge morphology	6536	SLC6A9	OMIM:617301
HP:0000422	Abnormal nasal bridge morphology	8942	KYNU	OMIM:617661
HP:0000422	Abnormal nasal bridge morphology	55790	CSGALNACT1	OMIM:618870
HP:0000422	Abnormal nasal bridge morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000422	Abnormal nasal bridge morphology	27245	AHDC1	ORPHA:412069
HP:0000422	Abnormal nasal bridge morphology	27245	AHDC1	OMIM:615829
HP:0000422	Abnormal nasal bridge morphology	5184	PEPD	OMIM:170100
HP:0000422	Abnormal nasal bridge morphology	5184	PEPD	ORPHA:742
HP:0000422	Abnormal nasal bridge morphology	79158	GNPTAB	OMIM:252500
HP:0000422	Abnormal nasal bridge morphology	79158	GNPTAB	ORPHA:576
HP:0000422	Abnormal nasal bridge morphology	55636	CHD7	ORPHA:138
HP:0000422	Abnormal nasal bridge morphology	55636	CHD7	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	9723	SEMA3E	ORPHA:138
HP:0000422	Abnormal nasal bridge morphology	7252	TSHB	ORPHA:90674
HP:0000422	Abnormal nasal bridge morphology	7252	TSHB	OMIM:275100
HP:0000422	Abnormal nasal bridge morphology	1896	EDA	OMIM:305100
HP:0000422	Abnormal nasal bridge morphology	79029	AFG2B	OMIM:619616
HP:0000422	Abnormal nasal bridge morphology	7021	TFAP2B	ORPHA:46627
HP:0000422	Abnormal nasal bridge morphology	10606	PAICS	OMIM:619859
HP:0000422	Abnormal nasal bridge morphology	11232	POLG2	OMIM:618528
HP:0000422	Abnormal nasal bridge morphology	55681	SCYL2	OMIM:618766
HP:0000422	Abnormal nasal bridge morphology	5191	PEX7	OMIM:215100
HP:0000422	Abnormal nasal bridge morphology	1302	COL11A2	OMIM:184840
HP:0000422	Abnormal nasal bridge morphology	1302	COL11A2	ORPHA:2021
HP:0000422	Abnormal nasal bridge morphology	1302	COL11A2	OMIM:215150
HP:0000422	Abnormal nasal bridge morphology	1302	COL11A2	ORPHA:1427
HP:0000422	Abnormal nasal bridge morphology	6872	TAF1	ORPHA:480907
HP:0000422	Abnormal nasal bridge morphology	4330	MN1	OMIM:618774
HP:0000422	Abnormal nasal bridge morphology	5442	POLRMT	OMIM:619743
HP:0000422	Abnormal nasal bridge morphology	84314	TMEM107	OMIM:617563
HP:0000422	Abnormal nasal bridge morphology	2783	GNB2	OMIM:619503
HP:0000422	Abnormal nasal bridge morphology	6602	SMARCD1	OMIM:618779
HP:0000422	Abnormal nasal bridge morphology	6602	SMARCD1	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	26040	SETBP1	OMIM:269150
HP:0000422	Abnormal nasal bridge morphology	81794	ADAMTS10	OMIM:277600
HP:0000422	Abnormal nasal bridge morphology	1789	DNMT3B	OMIM:242860
HP:0000422	Abnormal nasal bridge morphology	1789	DNMT3B	ORPHA:2268
HP:0000422	Abnormal nasal bridge morphology	3043	HBB	ORPHA:231214
HP:0000422	Abnormal nasal bridge morphology	3043	HBB	ORPHA:231226
HP:0000422	Abnormal nasal bridge morphology	6905	TBCE	OMIM:241410
HP:0000422	Abnormal nasal bridge morphology	6905	TBCE	ORPHA:2323
HP:0000422	Abnormal nasal bridge morphology	3590	IL11RA	OMIM:614188
HP:0000422	Abnormal nasal bridge morphology	23126	POGZ	OMIM:616364
HP:0000422	Abnormal nasal bridge morphology	23126	POGZ	ORPHA:468678
HP:0000422	Abnormal nasal bridge morphology	54914	FOCAD	OMIM:619991
HP:0000422	Abnormal nasal bridge morphology	3572	IL6ST	OMIM:619750
HP:0000422	Abnormal nasal bridge morphology	55699	IARS2	OMIM:616007
HP:0000422	Abnormal nasal bridge morphology	8363	H4C11	OMIM:619759
HP:0000422	Abnormal nasal bridge morphology	9841	ZBTB24	OMIM:614069
HP:0000422	Abnormal nasal bridge morphology	9841	ZBTB24	ORPHA:2268
HP:0000422	Abnormal nasal bridge morphology	286	ANK1	ORPHA:251066
HP:0000422	Abnormal nasal bridge morphology	285362	SUMF1	ORPHA:585
HP:0000422	Abnormal nasal bridge morphology	2736	GLI2	OMIM:610829
HP:0000422	Abnormal nasal bridge morphology	79796	ALG9	ORPHA:79328
HP:0000422	Abnormal nasal bridge morphology	79796	ALG9	OMIM:608776
HP:0000422	Abnormal nasal bridge morphology	253959	RALGAPA1	OMIM:618797
HP:0000422	Abnormal nasal bridge morphology	113179	ADAT3	OMIM:615286
HP:0000422	Abnormal nasal bridge morphology	113179	ADAT3	ORPHA:363528
HP:0000422	Abnormal nasal bridge morphology	6942	TCF20	OMIM:618430
HP:0000422	Abnormal nasal bridge morphology	4285	MIPEP	OMIM:617228
HP:0000422	Abnormal nasal bridge morphology	124583	CANT1	OMIM:251450
HP:0000422	Abnormal nasal bridge morphology	124583	CANT1	ORPHA:1425
HP:0000422	Abnormal nasal bridge morphology	3373	HYAL1	OMIM:601492
HP:0000422	Abnormal nasal bridge morphology	2271	FH	OMIM:606812
HP:0000422	Abnormal nasal bridge morphology	3930	LBR	OMIM:215140
HP:0000422	Abnormal nasal bridge morphology	3930	LBR	OMIM:169400
HP:0000422	Abnormal nasal bridge morphology	3930	LBR	OMIM:618019
HP:0000422	Abnormal nasal bridge morphology	57724	EPG5	OMIM:242840
HP:0000422	Abnormal nasal bridge morphology	775	CACNA1C	OMIM:601005
HP:0000422	Abnormal nasal bridge morphology	775	CACNA1C	OMIM:620029
HP:0000422	Abnormal nasal bridge morphology	7030	TFE3	OMIM:301066
HP:0000422	Abnormal nasal bridge morphology	79989	IFT56	OMIM:619534
HP:0000422	Abnormal nasal bridge morphology	84168	ANTXR1	OMIM:230740
HP:0000422	Abnormal nasal bridge morphology	84168	ANTXR1	ORPHA:2067
HP:0000422	Abnormal nasal bridge morphology	25836	NIPBL	OMIM:122470
HP:0000422	Abnormal nasal bridge morphology	25836	NIPBL	ORPHA:199
HP:0000422	Abnormal nasal bridge morphology	23499	MACF1	OMIM:618325
HP:0000422	Abnormal nasal bridge morphology	23219	FBXO28	OMIM:619777
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	ORPHA:79443
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	ORPHA:79444
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	ORPHA:94089
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	OMIM:612463
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	OMIM:612462
HP:0000422	Abnormal nasal bridge morphology	2778	GNAS	OMIM:103580
HP:0000422	Abnormal nasal bridge morphology	8813	DPM1	ORPHA:79322
HP:0000422	Abnormal nasal bridge morphology	8813	DPM1	OMIM:608799
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	ORPHA:485
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	OMIM:156550
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	ORPHA:85166
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	OMIM:271700
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	OMIM:151210
HP:0000422	Abnormal nasal bridge morphology	1280	COL2A1	OMIM:108300
HP:0000422	Abnormal nasal bridge morphology	56160	NSMCE3	OMIM:617241
HP:0000422	Abnormal nasal bridge morphology	1917	EEF1A2	OMIM:616393
HP:0000422	Abnormal nasal bridge morphology	51013	EXOSC1	OMIM:619304
HP:0000422	Abnormal nasal bridge morphology	1642	DDB1	OMIM:619426
HP:0000422	Abnormal nasal bridge morphology	6654	SOS1	OMIM:610733
HP:0000422	Abnormal nasal bridge morphology	6792	CDKL5	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	3736	KCNA1	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	9091	PIGQ	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	2775	GNAO1	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	81603	TRIM8	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	2902	GRIN1	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	79751	SLC25A22	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	150094	SIK1	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	23312	DMXL2	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	2917	GRM7	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	11284	PNKP	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	6326	SCN2A	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	51227	PIGP	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	6324	SCN1B	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	4761	NEUROD2	ORPHA:1934
HP:0000422	Abnormal nasal bridge morphology	1801	DPH1	ORPHA:459061
HP:0000422	Abnormal nasal bridge morphology	1801	DPH1	OMIM:616901
HP:0000422	Abnormal nasal bridge morphology	389827	MYMK	OMIM:254940
HP:0000422	Abnormal nasal bridge morphology	2879	GPX4	OMIM:250220
HP:0000422	Abnormal nasal bridge morphology	9949	AMMECR1	OMIM:300990
HP:0000422	Abnormal nasal bridge morphology	9949	AMMECR1	ORPHA:86818
HP:0000422	Abnormal nasal bridge morphology	9361	LONP1	OMIM:600373
HP:0000422	Abnormal nasal bridge morphology	9361	LONP1	ORPHA:1458
HP:0000422	Abnormal nasal bridge morphology	4921	DDR2	OMIM:271665
HP:0000422	Abnormal nasal bridge morphology	81848	SPRY4	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	128674	PROKR2	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	2253	FGF8	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	60675	PROK2	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	6870	TACR3	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	1848	DUSP6	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	26012	NSMF	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	55717	WDR11	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	9394	HS6ST1	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	2796	GNRH1	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	2798	GNRHR	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	84634	KISS1R	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	6866	TAC3	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	8822	FGF17	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	3814	KISS1	ORPHA:432
HP:0000422	Abnormal nasal bridge morphology	6909	TBX2	OMIM:618223
HP:0000422	Abnormal nasal bridge morphology	5351	PLOD1	OMIM:225400
HP:0000422	Abnormal nasal bridge morphology	10785	WDR4	OMIM:618346
HP:0000422	Abnormal nasal bridge morphology	23363	OBSL1	OMIM:612921
HP:0000422	Abnormal nasal bridge morphology	8675	STX16	ORPHA:94089
HP:0000422	Abnormal nasal bridge morphology	128869	PIGU	OMIM:618590
HP:0000422	Abnormal nasal bridge morphology	5575	PRKAR1B	OMIM:619680
HP:0000422	Abnormal nasal bridge morphology	59341	TRPV4	OMIM:156530
HP:0000422	Abnormal nasal bridge morphology	59341	TRPV4	OMIM:184252
HP:0000422	Abnormal nasal bridge morphology	59341	TRPV4	ORPHA:2635
HP:0000422	Abnormal nasal bridge morphology	57520	HECW2	OMIM:617268
HP:0000422	Abnormal nasal bridge morphology	6492	SIM1	ORPHA:171829
HP:0000422	Abnormal nasal bridge morphology	56975	FAM20C	OMIM:259775
HP:0000422	Abnormal nasal bridge morphology	4763	NF1	OMIM:601321
HP:0000422	Abnormal nasal bridge morphology	4763	NF1	ORPHA:97685
HP:0000422	Abnormal nasal bridge morphology	4784	NFIX	OMIM:602535
HP:0000422	Abnormal nasal bridge morphology	4784	NFIX	ORPHA:420179
HP:0000422	Abnormal nasal bridge morphology	57551	TAOK1	OMIM:619575
HP:0000422	Abnormal nasal bridge morphology	23221	RHOBTB2	OMIM:618004
HP:0000422	Abnormal nasal bridge morphology	24140	FTSJ1	OMIM:309549
HP:0000422	Abnormal nasal bridge morphology	9820	CUL7	OMIM:273750
HP:0000422	Abnormal nasal bridge morphology	9719	ADAMTSL2	ORPHA:1901
HP:0000422	Abnormal nasal bridge morphology	9509	ADAMTS2	ORPHA:1901
HP:0000422	Abnormal nasal bridge morphology	3265	HRAS	ORPHA:3071
HP:0000422	Abnormal nasal bridge morphology	3265	HRAS	OMIM:218040
HP:0000422	Abnormal nasal bridge morphology	6045	RNF2	OMIM:619460
HP:0000422	Abnormal nasal bridge morphology	29968	PSAT1	ORPHA:284417
HP:0000422	Abnormal nasal bridge morphology	7319	UBE2A	OMIM:300860
HP:0000422	Abnormal nasal bridge morphology	7319	UBE2A	ORPHA:163956
HP:0000422	Abnormal nasal bridge morphology	9496	TBX4	ORPHA:261279
HP:0000422	Abnormal nasal bridge morphology	10524	KAT5	OMIM:619103
HP:0000422	Abnormal nasal bridge morphology	63931	MRPS14	OMIM:618378
HP:0000422	Abnormal nasal bridge morphology	22808	MRAS	OMIM:618499
HP:0000422	Abnormal nasal bridge morphology	9451	EIF2AK3	OMIM:226980
HP:0000422	Abnormal nasal bridge morphology	54681	P4HTM	OMIM:618493
HP:0000422	Abnormal nasal bridge morphology	5277	PIGA	OMIM:300868
HP:0000422	Abnormal nasal bridge morphology	2475	MTOR	ORPHA:457485
HP:0000422	Abnormal nasal bridge morphology	2475	MTOR	OMIM:616638
HP:0000422	Abnormal nasal bridge morphology	9244	CRLF1	OMIM:272430
HP:0000422	Abnormal nasal bridge morphology	7846	TUBA1A	ORPHA:994
HP:0000422	Abnormal nasal bridge morphology	4654	MYOD1	ORPHA:994
HP:0000422	Abnormal nasal bridge morphology	4593	MUSK	ORPHA:994
HP:0000422	Abnormal nasal bridge morphology	6572	SLC18A3	ORPHA:994
HP:0000422	Abnormal nasal bridge morphology	285489	DOK7	ORPHA:994
HP:0000422	Abnormal nasal bridge morphology	2290	FOXG1	ORPHA:261144
HP:0000422	Abnormal nasal bridge morphology	2290	FOXG1	OMIM:613454
HP:0000422	Abnormal nasal bridge morphology	5977	DPF2	OMIM:618027
HP:0000422	Abnormal nasal bridge morphology	5977	DPF2	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	348180	CTU2	OMIM:618142
HP:0000422	Abnormal nasal bridge morphology	6608	SMO	OMIM:241800
HP:0000422	Abnormal nasal bridge morphology	80036	TRPM3	OMIM:620224
HP:0000422	Abnormal nasal bridge morphology	1836	SLC26A2	ORPHA:628
HP:0000422	Abnormal nasal bridge morphology	1836	SLC26A2	OMIM:256050
HP:0000422	Abnormal nasal bridge morphology	4796	TONSL	OMIM:271510
HP:0000422	Abnormal nasal bridge morphology	4796	TONSL	ORPHA:93357
HP:0000422	Abnormal nasal bridge morphology	207	AKT1	ORPHA:744
HP:0000422	Abnormal nasal bridge morphology	207	AKT1	OMIM:176920
HP:0000422	Abnormal nasal bridge morphology	23405	DICER1	OMIM:618272
HP:0000422	Abnormal nasal bridge morphology	5290	PIK3CA	OMIM:602501
HP:0000422	Abnormal nasal bridge morphology	5290	PIK3CA	ORPHA:60040
HP:0000422	Abnormal nasal bridge morphology	3636	INPPL1	OMIM:258480
HP:0000422	Abnormal nasal bridge morphology	3636	INPPL1	ORPHA:2746
HP:0000422	Abnormal nasal bridge morphology	2077	ERF	OMIM:617180
HP:0000422	Abnormal nasal bridge morphology	2077	ERF	OMIM:600775
HP:0000422	Abnormal nasal bridge morphology	2222	FDFT1	OMIM:618156
HP:0000422	Abnormal nasal bridge morphology	203068	TUBB	OMIM:156610
HP:0000422	Abnormal nasal bridge morphology	8567	MADD	OMIM:619005
HP:0000422	Abnormal nasal bridge morphology	51715	RAB23	OMIM:201000
HP:0000422	Abnormal nasal bridge morphology	10651	MTX2	OMIM:619127
HP:0000422	Abnormal nasal bridge morphology	57477	SHROOM4	ORPHA:85288
HP:0000422	Abnormal nasal bridge morphology	64093	SMOC1	OMIM:206920
HP:0000422	Abnormal nasal bridge morphology	64093	SMOC1	ORPHA:1106
HP:0000422	Abnormal nasal bridge morphology	1028	CDKN1C	ORPHA:85173
HP:0000422	Abnormal nasal bridge morphology	1028	CDKN1C	OMIM:614732
HP:0000422	Abnormal nasal bridge morphology	5426	POLE	ORPHA:85173
HP:0000422	Abnormal nasal bridge morphology	2799	GNS	OMIM:252940
HP:0000422	Abnormal nasal bridge morphology	9759	HDAC4	OMIM:600430
HP:0000422	Abnormal nasal bridge morphology	9759	HDAC4	ORPHA:1001
HP:0000422	Abnormal nasal bridge morphology	89970	RSPRY1	ORPHA:457395
HP:0000422	Abnormal nasal bridge morphology	89970	RSPRY1	OMIM:616723
HP:0000422	Abnormal nasal bridge morphology	54187	NANS	OMIM:610442
HP:0000422	Abnormal nasal bridge morphology	5557	PRIM1	OMIM:620005
HP:0000422	Abnormal nasal bridge morphology	3295	HSD17B4	OMIM:261515
HP:0000422	Abnormal nasal bridge morphology	84081	NSRP1	OMIM:620001
HP:0000422	Abnormal nasal bridge morphology	55901	THSD1	OMIM:620244
HP:0000422	Abnormal nasal bridge morphology	4668	NAGA	OMIM:609242
HP:0000422	Abnormal nasal bridge morphology	4668	NAGA	ORPHA:79280
HP:0000422	Abnormal nasal bridge morphology	2801	GOLGA2	OMIM:620240
HP:0000422	Abnormal nasal bridge morphology	64802	NMNAT1	OMIM:619260
HP:0000422	Abnormal nasal bridge morphology	51626	DYNC2LI1	OMIM:617088
HP:0000422	Abnormal nasal bridge morphology	27445	PCLO	OMIM:608027
HP:0000422	Abnormal nasal bridge morphology	121340	SP7	OMIM:613849
HP:0000422	Abnormal nasal bridge morphology	168667	BMPER	OMIM:608022
HP:0000422	Abnormal nasal bridge morphology	8450	CUL4B	OMIM:300354
HP:0000422	Abnormal nasal bridge morphology	9131	AIFM1	OMIM:300232
HP:0000422	Abnormal nasal bridge morphology	9131	AIFM1	ORPHA:83629
HP:0000422	Abnormal nasal bridge morphology	894	CCND2	ORPHA:83473
HP:0000422	Abnormal nasal bridge morphology	5296	PIK3R2	ORPHA:83473
HP:0000422	Abnormal nasal bridge morphology	10000	AKT3	ORPHA:83473
HP:0000422	Abnormal nasal bridge morphology	145173	B3GLCT	ORPHA:709
HP:0000422	Abnormal nasal bridge morphology	128178	EDARADD	OMIM:614941
HP:0000422	Abnormal nasal bridge morphology	128178	EDARADD	OMIM:224900
HP:0000422	Abnormal nasal bridge morphology	2629	GBA1	OMIM:608013
HP:0000422	Abnormal nasal bridge morphology	2629	GBA1	ORPHA:85212
HP:0000422	Abnormal nasal bridge morphology	1299	COL9A3	OMIM:620022
HP:0000422	Abnormal nasal bridge morphology	5447	POR	ORPHA:95699
HP:0000422	Abnormal nasal bridge morphology	5447	POR	OMIM:201750
HP:0000422	Abnormal nasal bridge morphology	5447	POR	OMIM:207410
HP:0000422	Abnormal nasal bridge morphology	55112	DYNC2I1	ORPHA:93271
HP:0000422	Abnormal nasal bridge morphology	55112	DYNC2I1	OMIM:615503
HP:0000422	Abnormal nasal bridge morphology	57560	IFT80	ORPHA:93271
HP:0000422	Abnormal nasal bridge morphology	79659	DYNC2H1	ORPHA:93271
HP:0000422	Abnormal nasal bridge morphology	89891	DYNC2I2	ORPHA:93271
HP:0000422	Abnormal nasal bridge morphology	80232	WDR26	ORPHA:513456
HP:0000422	Abnormal nasal bridge morphology	80232	WDR26	OMIM:617616
HP:0000422	Abnormal nasal bridge morphology	89910	UBE3B	OMIM:244450
HP:0000422	Abnormal nasal bridge morphology	9442	MED27	OMIM:619286
HP:0000422	Abnormal nasal bridge morphology	80055	PGAP1	OMIM:615802
HP:0000422	Abnormal nasal bridge morphology	10472	ZBTB18	ORPHA:36367
HP:0000422	Abnormal nasal bridge morphology	10472	ZBTB18	OMIM:612337
HP:0000422	Abnormal nasal bridge morphology	64324	NSD1	OMIM:117550
HP:0000422	Abnormal nasal bridge morphology	8289	ARID1A	OMIM:614607
HP:0000422	Abnormal nasal bridge morphology	8289	ARID1A	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	6598	SMARCB1	OMIM:614608
HP:0000422	Abnormal nasal bridge morphology	6598	SMARCB1	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	4524	MTHFR	ORPHA:563612
HP:0000422	Abnormal nasal bridge morphology	57216	VANGL2	ORPHA:563612
HP:0000422	Abnormal nasal bridge morphology	23036	ZNF292	OMIM:619188
HP:0000422	Abnormal nasal bridge morphology	3070	HELLS	ORPHA:2268
HP:0000422	Abnormal nasal bridge morphology	3070	HELLS	OMIM:616911
HP:0000422	Abnormal nasal bridge morphology	83879	CDCA7	ORPHA:2268
HP:0000422	Abnormal nasal bridge morphology	83879	CDCA7	OMIM:616910
HP:0000422	Abnormal nasal bridge morphology	84300	UQCC2	OMIM:615824
HP:0000422	Abnormal nasal bridge morphology	124512	METTL23	OMIM:615942
HP:0000422	Abnormal nasal bridge morphology	4036	LRP2	ORPHA:2143
HP:0000422	Abnormal nasal bridge morphology	4036	LRP2	OMIM:222448
HP:0000422	Abnormal nasal bridge morphology	657	BMPR1A	ORPHA:79076
HP:0000422	Abnormal nasal bridge morphology	5626	PROP1	ORPHA:226307
HP:0000422	Abnormal nasal bridge morphology	89884	LHX4	ORPHA:226307
HP:0000422	Abnormal nasal bridge morphology	8022	LHX3	ORPHA:226307
HP:0000422	Abnormal nasal bridge morphology	5449	POU1F1	ORPHA:226307
HP:0000422	Abnormal nasal bridge morphology	5449	POU1F1	OMIM:613038
HP:0000422	Abnormal nasal bridge morphology	8820	HESX1	ORPHA:226307
HP:0000422	Abnormal nasal bridge morphology	3211	HOXB1	OMIM:614744
HP:0000422	Abnormal nasal bridge morphology	23345	SYNE1	ORPHA:319332
HP:0000422	Abnormal nasal bridge morphology	11128	POLR3A	OMIM:264090
HP:0000422	Abnormal nasal bridge morphology	283209	PGM2L1	OMIM:620191
HP:0000422	Abnormal nasal bridge morphology	182	JAG1	OMIM:118450
HP:0000422	Abnormal nasal bridge morphology	6605	SMARCE1	OMIM:616938
HP:0000422	Abnormal nasal bridge morphology	6605	SMARCE1	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	3911	LAMA5	OMIM:620076
HP:0000422	Abnormal nasal bridge morphology	10430	TMEM147	OMIM:620075
HP:0000422	Abnormal nasal bridge morphology	415	ARSL	OMIM:302950
HP:0000422	Abnormal nasal bridge morphology	2146	EZH2	OMIM:277590
HP:0000422	Abnormal nasal bridge morphology	4882	NPR2	ORPHA:40
HP:0000422	Abnormal nasal bridge morphology	701	BUB1B	OMIM:257300
HP:0000422	Abnormal nasal bridge morphology	7546	ZIC2	OMIM:609637
HP:0000422	Abnormal nasal bridge morphology	5631	PRPS1	OMIM:300661
HP:0000422	Abnormal nasal bridge morphology	91252	SLC39A13	OMIM:612350
HP:0000422	Abnormal nasal bridge morphology	867	CBL	OMIM:613563
HP:0000422	Abnormal nasal bridge morphology	51025	PAM16	OMIM:613320
HP:0000422	Abnormal nasal bridge morphology	4208	MEF2C	OMIM:613443
HP:0000422	Abnormal nasal bridge morphology	22907	DHX30	OMIM:617804
HP:0000422	Abnormal nasal bridge morphology	51053	GMNN	OMIM:616835
HP:0000422	Abnormal nasal bridge morphology	7407	VARS1	OMIM:617802
HP:0000422	Abnormal nasal bridge morphology	6664	SOX11	OMIM:615866
HP:0000422	Abnormal nasal bridge morphology	6664	SOX11	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	196528	ARID2	OMIM:617808
HP:0000422	Abnormal nasal bridge morphology	196528	ARID2	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	6888	TALDO1	OMIM:606003
HP:0000422	Abnormal nasal bridge morphology	10075	HUWE1	OMIM:309590
HP:0000422	Abnormal nasal bridge morphology	5745	PTH1R	OMIM:215045
HP:0000422	Abnormal nasal bridge morphology	5745	PTH1R	ORPHA:50945
HP:0000422	Abnormal nasal bridge morphology	79650	USB1	OMIM:604173
HP:0000422	Abnormal nasal bridge morphology	411	ARSB	OMIM:253200
HP:0000422	Abnormal nasal bridge morphology	91179	SCARF2	OMIM:600920
HP:0000422	Abnormal nasal bridge morphology	84162	BLTP1	OMIM:617822
HP:0000422	Abnormal nasal bridge morphology	169792	GLIS3	OMIM:610199
HP:0000422	Abnormal nasal bridge morphology	30008	EFEMP2	OMIM:614437
HP:0000422	Abnormal nasal bridge morphology	2720	GLB1	ORPHA:79255
HP:0000422	Abnormal nasal bridge morphology	405753	DUOXA2	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	6528	SLC5A5	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	7038	TG	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	7173	TPO	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	389434	IYD	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	50506	DUOX2	ORPHA:95716
HP:0000422	Abnormal nasal bridge morphology	6659	SOX4	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	6601	SMARCC2	ORPHA:1465
HP:0000422	Abnormal nasal bridge morphology	134701	RIPPLY2	ORPHA:2311
HP:0000422	Abnormal nasal bridge morphology	10683	DLL3	ORPHA:2311
HP:0000422	Abnormal nasal bridge morphology	3955	LFNG	ORPHA:2311
HP:0000422	Abnormal nasal bridge morphology	84667	HES7	ORPHA:2311
HP:0000422	Abnormal nasal bridge morphology	145873	MESP2	ORPHA:2311
HP:0000422	Abnormal nasal bridge morphology	5604	MAP2K1	ORPHA:1340
HP:0000422	Abnormal nasal bridge morphology	5605	MAP2K2	ORPHA:1340
HP:0000422	Abnormal nasal bridge morphology	64131	XYLT1	OMIM:615777
HP:0000422	Abnormal nasal bridge morphology	64131	XYLT1	ORPHA:1425
HP:0000422	Abnormal nasal bridge morphology	57211	ADGRG6	OMIM:616503
HP:0000422	Abnormal nasal bridge morphology	2138	EYA1	ORPHA:2792
HP:0000422	Abnormal nasal bridge morphology	1000	CDH2	OMIM:618929
HP:0000422	Abnormal nasal bridge morphology	7050	TGIF1	OMIM:142946
HP:0000422	Abnormal nasal bridge morphology	6469	SHH	OMIM:142945
HP:0000422	Abnormal nasal bridge morphology	5422	POLA1	OMIM:301030
HP:0000422	Abnormal nasal bridge morphology	84342	COG8	OMIM:611182
HP:0000422	Abnormal nasal bridge morphology	84188	FAR1	ORPHA:438178
HP:0000422	Abnormal nasal bridge morphology	80781	COL18A1	ORPHA:1571
HP:0000422	Abnormal nasal bridge morphology	80781	COL18A1	OMIM:267750
HP:0000422	Abnormal nasal bridge morphology	5062	PAK2	ORPHA:1571
HP:0000422	Abnormal nasal bridge morphology	9419	CRIPT	OMIM:615789
HP:0000422	Abnormal nasal bridge morphology	57572	DOCK6	OMIM:614219
HP:0000422	Abnormal nasal bridge morphology	23476	BRD4	ORPHA:199
HP:0000422	Abnormal nasal bridge morphology	9997	SCO2	OMIM:604377
HP:0000422	Abnormal nasal bridge morphology	6197	RPS6KA3	ORPHA:192
HP:0000422	Abnormal nasal bridge morphology	55180	LINS1	OMIM:614340
HP:0000422	Abnormal nasal bridge morphology	29957	SLC25A24	OMIM:612289
HP:0000422	Abnormal nasal bridge morphology	4329	ALDH6A1	OMIM:614105
HP:0000422	Abnormal nasal bridge morphology	23630	KCNE5	ORPHA:86818
HP:0000422	Abnormal nasal bridge morphology	2182	ACSL4	ORPHA:86818
HP:0000422	Abnormal nasal bridge morphology	10913	EDAR	OMIM:224900
HP:0000422	Abnormal nasal bridge morphology	284252	KCTD1	OMIM:181270
HP:0000422	Abnormal nasal bridge morphology	9702	CEP57	OMIM:614114
HP:0000422	Abnormal nasal bridge morphology	1806	DPYD	ORPHA:1675
HP:0000422	Abnormal nasal bridge morphology	4190	MDH1	OMIM:618959
HP:0000422	Abnormal nasal bridge morphology	54676	GTPBP2	OMIM:617988
HP:0000422	Abnormal nasal bridge morphology	5495	PPM1B	ORPHA:163693
HP:0000422	Abnormal nasal bridge morphology	6519	SLC3A1	ORPHA:163693
HP:0000422	Abnormal nasal bridge morphology	9581	PREPL	ORPHA:163693
HP:0000422	Abnormal nasal bridge morphology	79823	CAMKMT	ORPHA:163693
HP:0000422	Abnormal nasal bridge morphology	126792	B3GALT6	ORPHA:536467
HP:0000422	Abnormal nasal bridge morphology	5331	PLCB3	OMIM:618961
HP:0000422	Abnormal nasal bridge morphology	9320	TRIP12	OMIM:617752
HP:0000422	Abnormal nasal bridge morphology	178	AGL	OMIM:232400
HP:0000422	Abnormal nasal bridge morphology	10269	ZMPSTE24	OMIM:275210
HP:0000422	Abnormal nasal bridge morphology	9469	CHST3	OMIM:245600
HP:0000422	Abnormal nasal bridge morphology	26229	B3GAT3	OMIM:245600
HP:0000422	Abnormal nasal bridge morphology	5307	PITX1	OMIM:119800
HP:0000422	Abnormal nasal bridge morphology	10736	SIX2	ORPHA:488437
HP:0000422	Abnormal nasal bridge morphology	25871	NEPRO	OMIM:618853
HP:0000422	Abnormal nasal bridge morphology	6929	TCF3	OMIM:619824
HP:0000422	Abnormal nasal bridge morphology	2108	ETFA	OMIM:231680
HP:0000422	Abnormal nasal bridge morphology	2109	ETFB	OMIM:231680
HP:0000422	Abnormal nasal bridge morphology	2110	ETFDH	OMIM:231680
HP:0000422	Abnormal nasal bridge morphology	1278	COL1A2	ORPHA:1899
HP:0000422	Abnormal nasal bridge morphology	1277	COL1A1	ORPHA:1899
HP:0000422	Abnormal nasal bridge morphology	1718	DHCR24	OMIM:602398
HP:0000422	Abnormal nasal bridge morphology	9321	TRIP11	OMIM:200600
HP:0000422	Abnormal nasal bridge morphology	2690	GHR	ORPHA:633
HP:0000422	Abnormal nasal bridge morphology	27152	INTU	OMIM:617925
HP:0000422	Abnormal nasal bridge morphology	176	ACAN	ORPHA:171866
HP:0000422	Abnormal nasal bridge morphology	176	ACAN	OMIM:612813
HP:0000422	Abnormal nasal bridge morphology	5700	PSMC1	OMIM:620071
HP:0000422	Abnormal nasal bridge morphology	10801	SEPTIN9	OMIM:162100
HP:0000429	Abnormal morphology of the nasal alae	55217	TMLHE	OMIM:300872
HP:0000429	Abnormal morphology of the nasal alae	3763	KCNJ6	ORPHA:435628
HP:0000429	Abnormal morphology of the nasal alae	3763	KCNJ6	OMIM:614098
HP:0000429	Abnormal morphology of the nasal alae	4621	MYH3	ORPHA:2053
HP:0000429	Abnormal morphology of the nasal alae	4621	MYH3	OMIM:193700
HP:0000429	Abnormal morphology of the nasal alae	259232	NALCN	ORPHA:2053
HP:0000429	Abnormal morphology of the nasal alae	1281	COL3A1	OMIM:618343
HP:0000429	Abnormal morphology of the nasal alae	341640	FREM2	ORPHA:2052
HP:0000429	Abnormal morphology of the nasal alae	341640	FREM2	OMIM:617666
HP:0000429	Abnormal morphology of the nasal alae	80144	FRAS1	ORPHA:2052
HP:0000429	Abnormal morphology of the nasal alae	80144	FRAS1	OMIM:219000
HP:0000429	Abnormal morphology of the nasal alae	23426	GRIP1	ORPHA:2052
HP:0000429	Abnormal morphology of the nasal alae	1859	DYRK1A	ORPHA:268261
HP:0000429	Abnormal morphology of the nasal alae	29123	ANKRD11	ORPHA:2332
HP:0000429	Abnormal morphology of the nasal alae	29123	ANKRD11	OMIM:148050
HP:0000429	Abnormal morphology of the nasal alae	9759	HDAC4	ORPHA:1001
HP:0000429	Abnormal morphology of the nasal alae	8092	ALX1	OMIM:613456
HP:0000429	Abnormal morphology of the nasal alae	8092	ALX1	ORPHA:306542
HP:0000429	Abnormal morphology of the nasal alae	100151683	RNU4ATAC	ORPHA:353298
HP:0000429	Abnormal morphology of the nasal alae	100151683	RNU4ATAC	OMIM:616651
HP:0000429	Abnormal morphology of the nasal alae	79650	USB1	OMIM:604173
HP:0000429	Abnormal morphology of the nasal alae	3190	HNRNPK	ORPHA:453504
HP:0000429	Abnormal morphology of the nasal alae	3190	HNRNPK	OMIM:616580
HP:0000429	Abnormal morphology of the nasal alae	3190	HNRNPK	ORPHA:352665
HP:0000429	Abnormal morphology of the nasal alae	4784	NFIX	ORPHA:447980
HP:0000429	Abnormal morphology of the nasal alae	9241	NOG	OMIM:184460
HP:0000429	Abnormal morphology of the nasal alae	9241	NOG	OMIM:186500
HP:0000429	Abnormal morphology of the nasal alae	5631	PRPS1	ORPHA:423479
HP:0000429	Abnormal morphology of the nasal alae	197131	UBR1	OMIM:243800
HP:0000429	Abnormal morphology of the nasal alae	197131	UBR1	ORPHA:2315
HP:0000429	Abnormal morphology of the nasal alae	10847	SRCAP	OMIM:136140
HP:0000429	Abnormal morphology of the nasal alae	91179	SCARF2	OMIM:600920
HP:0000429	Abnormal morphology of the nasal alae	3020	H3-3A	OMIM:619720
HP:0000429	Abnormal morphology of the nasal alae	613	BCR	ORPHA:261330
HP:0000429	Abnormal morphology of the nasal alae	1399	CRKL	ORPHA:261330
HP:0000429	Abnormal morphology of the nasal alae	5594	MAPK1	ORPHA:261330
HP:0000429	Abnormal morphology of the nasal alae	29998	BICRA	OMIM:619325
HP:0000429	Abnormal morphology of the nasal alae	80816	ASXL3	OMIM:615485
HP:0000429	Abnormal morphology of the nasal alae	80816	ASXL3	ORPHA:352577
HP:0000429	Abnormal morphology of the nasal alae	10978	CLP1	ORPHA:411493
HP:0000429	Abnormal morphology of the nasal alae	10978	CLP1	OMIM:615803
HP:0000429	Abnormal morphology of the nasal alae	2317	FLNB	OMIM:112310
HP:0000429	Abnormal morphology of the nasal alae	54101	RIPK4	ORPHA:1234
HP:0000429	Abnormal morphology of the nasal alae	54101	RIPK4	OMIM:263650
HP:0000429	Abnormal morphology of the nasal alae	526	ATP6V1B2	OMIM:616455
HP:0000429	Abnormal morphology of the nasal alae	5831	PYCR1	OMIM:614438
HP:0000429	Abnormal morphology of the nasal alae	5339	PLEC	OMIM:612138
HP:0000429	Abnormal morphology of the nasal alae	150468	CKAP2L	ORPHA:3255
HP:0000429	Abnormal morphology of the nasal alae	150468	CKAP2L	OMIM:272440
HP:0000429	Abnormal morphology of the nasal alae	1908	EDN3	ORPHA:897
HP:0000429	Abnormal morphology of the nasal alae	4286	MITF	ORPHA:897
HP:0000429	Abnormal morphology of the nasal alae	4286	MITF	OMIM:193510
HP:0000429	Abnormal morphology of the nasal alae	1910	EDNRB	ORPHA:897
HP:0000429	Abnormal morphology of the nasal alae	6663	SOX10	ORPHA:897
HP:0000429	Abnormal morphology of the nasal alae	6663	SOX10	ORPHA:163746
HP:0000429	Abnormal morphology of the nasal alae	1896	EDA	OMIM:305100
HP:0000429	Abnormal morphology of the nasal alae	8260	NAA10	OMIM:300855
HP:0000429	Abnormal morphology of the nasal alae	8260	NAA10	ORPHA:276432
HP:0000429	Abnormal morphology of the nasal alae	51109	RDH11	OMIM:616108
HP:0000429	Abnormal morphology of the nasal alae	51109	RDH11	ORPHA:436245
HP:0000429	Abnormal morphology of the nasal alae	2248	FGF3	ORPHA:90024
HP:0000429	Abnormal morphology of the nasal alae	2697	GJA1	ORPHA:2710
HP:0000429	Abnormal morphology of the nasal alae	2697	GJA1	OMIM:164200
HP:0000429	Abnormal morphology of the nasal alae	2697	GJA1	OMIM:257850
HP:0000429	Abnormal morphology of the nasal alae	64327	LMBR1	OMIM:135750
HP:0000429	Abnormal morphology of the nasal alae	64327	LMBR1	ORPHA:2378
HP:0000429	Abnormal morphology of the nasal alae	9401	RECQL4	OMIM:218600
HP:0000429	Abnormal morphology of the nasal alae	79796	ALG9	OMIM:263210
HP:0000429	Abnormal morphology of the nasal alae	79796	ALG9	ORPHA:79328
HP:0000429	Abnormal morphology of the nasal alae	3188	HNRNPH2	OMIM:300986
HP:0000429	Abnormal morphology of the nasal alae	5813	PURA	ORPHA:438216
HP:0000429	Abnormal morphology of the nasal alae	5813	PURA	OMIM:616158
HP:0000429	Abnormal morphology of the nasal alae	55012	PPP2R3C	OMIM:618419
HP:0000429	Abnormal morphology of the nasal alae	4598	MVK	OMIM:610377
HP:0000429	Abnormal morphology of the nasal alae	5000	ORC4	OMIM:613800
HP:0000429	Abnormal morphology of the nasal alae	25942	SIN3A	OMIM:613406
HP:0000429	Abnormal morphology of the nasal alae	1499	CTNNB1	ORPHA:404473
HP:0000429	Abnormal morphology of the nasal alae	55699	IARS2	OMIM:616007
HP:0000429	Abnormal morphology of the nasal alae	7204	TRIO	OMIM:618825
HP:0000429	Abnormal morphology of the nasal alae	117581	TWIST2	OMIM:209885
HP:0000429	Abnormal morphology of the nasal alae	117581	TWIST2	ORPHA:920
HP:0000429	Abnormal morphology of the nasal alae	10283	CWC27	OMIM:250410
HP:0000429	Abnormal morphology of the nasal alae	10283	CWC27	ORPHA:166035
HP:0000429	Abnormal morphology of the nasal alae	8626	TP63	OMIM:129400
HP:0000429	Abnormal morphology of the nasal alae	157570	ESCO2	ORPHA:3103
HP:0000429	Abnormal morphology of the nasal alae	157570	ESCO2	OMIM:268300
HP:0000429	Abnormal morphology of the nasal alae	8085	KMT2D	OMIM:620186
HP:0000429	Abnormal morphology of the nasal alae	2132	EXT2	ORPHA:52022
HP:0000429	Abnormal morphology of the nasal alae	60529	ALX4	ORPHA:52022
HP:0000429	Abnormal morphology of the nasal alae	60529	ALX4	ORPHA:228390
HP:0000429	Abnormal morphology of the nasal alae	51317	PHF21A	ORPHA:52022
HP:0000429	Abnormal morphology of the nasal alae	10907	TXNL4A	OMIM:608572
HP:0000429	Abnormal morphology of the nasal alae	8567	MADD	OMIM:619005
HP:0000429	Abnormal morphology of the nasal alae	10651	MTX2	OMIM:619127
HP:0000429	Abnormal morphology of the nasal alae	4256	MGP	ORPHA:85202
HP:0000429	Abnormal morphology of the nasal alae	8481	OFD1	OMIM:311200
HP:0000429	Abnormal morphology of the nasal alae	8481	OFD1	ORPHA:2750
HP:0000429	Abnormal morphology of the nasal alae	5500	PPP1CB	OMIM:617506
HP:0000429	Abnormal morphology of the nasal alae	2542	SLC37A4	OMIM:619525
HP:0000429	Abnormal morphology of the nasal alae	7291	TWIST1	OMIM:617746
HP:0000429	Abnormal morphology of the nasal alae	9993	DGCR2	OMIM:192430
HP:0000429	Abnormal morphology of the nasal alae	8220	ESS2	OMIM:192430
HP:0000429	Abnormal morphology of the nasal alae	8214	DGCR6	OMIM:192430
HP:0000429	Abnormal morphology of the nasal alae	54487	DGCR8	OMIM:192430
HP:0000429	Abnormal morphology of the nasal alae	6899	TBX1	OMIM:192430
HP:0000429	Abnormal morphology of the nasal alae	5077	PAX3	ORPHA:894
HP:0000429	Abnormal morphology of the nasal alae	5077	PAX3	OMIM:193500
HP:0000429	Abnormal morphology of the nasal alae	80267	EDEM3	OMIM:619493
HP:0000429	Abnormal morphology of the nasal alae	5295	PIK3R1	OMIM:269880
HP:0000429	Abnormal morphology of the nasal alae	54888	NSUN2	OMIM:611091
HP:0000429	Abnormal morphology of the nasal alae	1984	EIF5A	OMIM:619376
HP:0000429	Abnormal morphology of the nasal alae	5116	PCNT	ORPHA:2637
HP:0000429	Abnormal morphology of the nasal alae	84700	MYO18B	OMIM:616549
HP:0000429	Abnormal morphology of the nasal alae	55835	CENPJ	OMIM:613676
HP:0000429	Abnormal morphology of the nasal alae	1387	CREBBP	OMIM:618332
HP:0000429	Abnormal morphology of the nasal alae	101929726	MYMX	OMIM:619941
HP:0000429	Abnormal morphology of the nasal alae	672	BRCA1	OMIM:617883
HP:0000429	Abnormal morphology of the nasal alae	4921	DDR2	OMIM:618175
HP:0000429	Abnormal morphology of the nasal alae	6878	TAF6	OMIM:617126
HP:0000429	Abnormal morphology of the nasal alae	51053	GMNN	OMIM:616835
HP:0000429	Abnormal morphology of the nasal alae	1642	DDB1	OMIM:619426
HP:0000429	Abnormal morphology of the nasal alae	7319	UBE2A	ORPHA:163956
HP:0000429	Abnormal morphology of the nasal alae	998	CDC42	ORPHA:487796
HP:0000429	Abnormal morphology of the nasal alae	998	CDC42	OMIM:616737
HP:0000429	Abnormal morphology of the nasal alae	8239	USP9X	ORPHA:480880
HP:0000429	Abnormal morphology of the nasal alae	64093	SMOC1	OMIM:206920
HP:0000429	Abnormal morphology of the nasal alae	79184	BRCC3	ORPHA:280679
HP:0000429	Abnormal morphology of the nasal alae	2137	EXTL3	ORPHA:508533
HP:0000429	Abnormal morphology of the nasal alae	1718	DHCR24	OMIM:602398
HP:0000429	Abnormal morphology of the nasal alae	9820	CUL7	ORPHA:2616
HP:0000429	Abnormal morphology of the nasal alae	9820	CUL7	OMIM:273750
HP:0000429	Abnormal morphology of the nasal alae	23363	OBSL1	ORPHA:2616
HP:0000429	Abnormal morphology of the nasal alae	23363	OBSL1	OMIM:612921
HP:0000429	Abnormal morphology of the nasal alae	83987	CCDC8	ORPHA:2616
HP:0000429	Abnormal morphology of the nasal alae	83987	CCDC8	OMIM:614205
HP:0000429	Abnormal morphology of the nasal alae	81857	MED25	OMIM:616449
HP:0000429	Abnormal morphology of the nasal alae	81857	MED25	ORPHA:464738
HP:0000429	Abnormal morphology of the nasal alae	5457	POU4F1	ORPHA:314647
HP:0000429	Abnormal morphology of the nasal alae	23261	CAMTA1	ORPHA:314647
HP:0000429	Abnormal morphology of the nasal alae	23261	CAMTA1	OMIM:614756
HP:0000429	Abnormal morphology of the nasal alae	55209	SETD5	ORPHA:404440
HP:0000429	Abnormal morphology of the nasal alae	55209	SETD5	OMIM:615761
HP:0000429	Abnormal morphology of the nasal alae	116931	MED12L	OMIM:618872
HP:0000429	Abnormal morphology of the nasal alae	9578	CDC42BPB	OMIM:619841
HP:0000429	Abnormal morphology of the nasal alae	10300	KATNB1	OMIM:616212
HP:0000429	Abnormal morphology of the nasal alae	6536	SLC6A9	OMIM:617301
HP:0000429	Abnormal morphology of the nasal alae	51741	WWOX	OMIM:616211
HP:0000429	Abnormal morphology of the nasal alae	1855	DVL1	OMIM:616331
HP:0000429	Abnormal morphology of the nasal alae	1855	DVL1	OMIM:180700
HP:0000429	Abnormal morphology of the nasal alae	1855	DVL1	ORPHA:3107
HP:0000429	Abnormal morphology of the nasal alae	55790	CSGALNACT1	OMIM:618870
HP:0000429	Abnormal morphology of the nasal alae	55790	CSGALNACT1	ORPHA:1425
HP:0000429	Abnormal morphology of the nasal alae	5830	PEX5	OMIM:202370
HP:0000429	Abnormal morphology of the nasal alae	5830	PEX5	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	23322	RPGRIP1L	ORPHA:220497
HP:0000429	Abnormal morphology of the nasal alae	23322	RPGRIP1L	ORPHA:1454
HP:0000429	Abnormal morphology of the nasal alae	4867	NPHP1	ORPHA:220497
HP:0000429	Abnormal morphology of the nasal alae	65062	TMEM237	ORPHA:220497
HP:0000429	Abnormal morphology of the nasal alae	65062	TMEM237	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	65062	TMEM237	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	79639	TMEM53	OMIM:619727
HP:0000429	Abnormal morphology of the nasal alae	72	ACTG2	ORPHA:2604
HP:0000429	Abnormal morphology of the nasal alae	54806	AHI1	ORPHA:220493
HP:0000429	Abnormal morphology of the nasal alae	54806	AHI1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	54806	AHI1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	54806	AHI1	OMIM:608629
HP:0000429	Abnormal morphology of the nasal alae	56623	INPP5E	ORPHA:220493
HP:0000429	Abnormal morphology of the nasal alae	56623	INPP5E	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	56623	INPP5E	OMIM:213300
HP:0000429	Abnormal morphology of the nasal alae	56623	INPP5E	ORPHA:1454
HP:0000429	Abnormal morphology of the nasal alae	153241	CEP120	ORPHA:220493
HP:0000429	Abnormal morphology of the nasal alae	153241	CEP120	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	54903	MKS1	ORPHA:220493
HP:0000429	Abnormal morphology of the nasal alae	54903	MKS1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	95681	CEP41	ORPHA:220493
HP:0000429	Abnormal morphology of the nasal alae	95681	CEP41	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	129563	DIS3L2	ORPHA:2849
HP:0000429	Abnormal morphology of the nasal alae	3764	KCNJ8	ORPHA:1517
HP:0000429	Abnormal morphology of the nasal alae	10060	ABCC9	ORPHA:1517
HP:0000429	Abnormal morphology of the nasal alae	10060	ABCC9	OMIM:239850
HP:0000429	Abnormal morphology of the nasal alae	79158	GNPTAB	OMIM:252500
HP:0000429	Abnormal morphology of the nasal alae	57539	WDR35	ORPHA:1515
HP:0000429	Abnormal morphology of the nasal alae	112752	IFT43	ORPHA:1515
HP:0000429	Abnormal morphology of the nasal alae	51098	IFT52	ORPHA:1515
HP:0000429	Abnormal morphology of the nasal alae	55764	IFT122	ORPHA:1515
HP:0000429	Abnormal morphology of the nasal alae	55764	IFT122	OMIM:218330
HP:0000429	Abnormal morphology of the nasal alae	57728	WDR19	ORPHA:1515
HP:0000429	Abnormal morphology of the nasal alae	57728	WDR19	OMIM:614378
HP:0000429	Abnormal morphology of the nasal alae	5189	PEX1	OMIM:214100
HP:0000429	Abnormal morphology of the nasal alae	5189	PEX1	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	2260	FGFR1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	2260	FGFR1	OMIM:166250
HP:0000429	Abnormal morphology of the nasal alae	2260	FGFR1	ORPHA:2645
HP:0000429	Abnormal morphology of the nasal alae	28514	DLL1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	2253	FGF8	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	6496	SIX3	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	7050	TGIF1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	4838	NODAL	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	6469	SHH	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	51684	SUFU	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	51684	SUFU	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	7546	ZIC2	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	7546	ZIC2	OMIM:609637
HP:0000429	Abnormal morphology of the nasal alae	2619	GAS1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	84976	DISP1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	2736	GLI2	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	8928	FOXH1	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	50937	CDON	ORPHA:280200
HP:0000429	Abnormal morphology of the nasal alae	6023	RMRP	ORPHA:175
HP:0000429	Abnormal morphology of the nasal alae	57589	RIC1	OMIM:618761
HP:0000429	Abnormal morphology of the nasal alae	79868	ALG13	ORPHA:324422
HP:0000429	Abnormal morphology of the nasal alae	79868	ALG13	OMIM:300884
HP:0000429	Abnormal morphology of the nasal alae	317662	FAM149B1	OMIM:618763
HP:0000429	Abnormal morphology of the nasal alae	55870	ASH1L	OMIM:617796
HP:0000429	Abnormal morphology of the nasal alae	10606	PAICS	OMIM:619859
HP:0000429	Abnormal morphology of the nasal alae	11232	POLG2	OMIM:618528
HP:0000429	Abnormal morphology of the nasal alae	4853	NOTCH2	OMIM:102500
HP:0000429	Abnormal morphology of the nasal alae	4853	NOTCH2	ORPHA:955
HP:0000429	Abnormal morphology of the nasal alae	64359	NXN	OMIM:618529
HP:0000429	Abnormal morphology of the nasal alae	64359	NXN	ORPHA:1507
HP:0000429	Abnormal morphology of the nasal alae	9326	ZNHIT3	ORPHA:2836
HP:0000429	Abnormal morphology of the nasal alae	547	KIF1A	ORPHA:2836
HP:0000429	Abnormal morphology of the nasal alae	2770	GNAI1	OMIM:619854
HP:0000429	Abnormal morphology of the nasal alae	4920	ROR2	ORPHA:1507
HP:0000429	Abnormal morphology of the nasal alae	4920	ROR2	OMIM:268310
HP:0000429	Abnormal morphology of the nasal alae	1302	COL11A2	OMIM:184840
HP:0000429	Abnormal morphology of the nasal alae	1302	COL11A2	ORPHA:2021
HP:0000429	Abnormal morphology of the nasal alae	1302	COL11A2	OMIM:614524
HP:0000429	Abnormal morphology of the nasal alae	1302	COL11A2	OMIM:215150
HP:0000429	Abnormal morphology of the nasal alae	1302	COL11A2	ORPHA:1427
HP:0000429	Abnormal morphology of the nasal alae	6872	TAF1	ORPHA:480907
HP:0000429	Abnormal morphology of the nasal alae	6872	TAF1	OMIM:300966
HP:0000429	Abnormal morphology of the nasal alae	171023	ASXL1	ORPHA:97297
HP:0000429	Abnormal morphology of the nasal alae	171023	ASXL1	OMIM:605039
HP:0000429	Abnormal morphology of the nasal alae	10484	SEC23A	OMIM:607812
HP:0000429	Abnormal morphology of the nasal alae	10087	CERT1	OMIM:616351
HP:0000429	Abnormal morphology of the nasal alae	54968	TMEM70	OMIM:614052
HP:0000429	Abnormal morphology of the nasal alae	4330	MN1	OMIM:618774
HP:0000429	Abnormal morphology of the nasal alae	5442	POLRMT	OMIM:619743
HP:0000429	Abnormal morphology of the nasal alae	1301	COL11A1	OMIM:228520
HP:0000429	Abnormal morphology of the nasal alae	1301	COL11A1	OMIM:604841
HP:0000429	Abnormal morphology of the nasal alae	1301	COL11A1	ORPHA:560
HP:0000429	Abnormal morphology of the nasal alae	1301	COL11A1	OMIM:154780
HP:0000429	Abnormal morphology of the nasal alae	1301	COL11A1	ORPHA:2021
HP:0000429	Abnormal morphology of the nasal alae	57231	SNX14	OMIM:616354
HP:0000429	Abnormal morphology of the nasal alae	23327	NEDD4L	OMIM:617201
HP:0000429	Abnormal morphology of the nasal alae	8036	SHOC2	ORPHA:2701
HP:0000429	Abnormal morphology of the nasal alae	26040	SETBP1	OMIM:269150
HP:0000429	Abnormal morphology of the nasal alae	8241	RBM10	OMIM:311900
HP:0000429	Abnormal morphology of the nasal alae	8241	RBM10	ORPHA:2886
HP:0000429	Abnormal morphology of the nasal alae	57167	SALL4	ORPHA:233
HP:0000429	Abnormal morphology of the nasal alae	9935	MAFB	ORPHA:233
HP:0000429	Abnormal morphology of the nasal alae	1123	CHN1	ORPHA:233
HP:0000429	Abnormal morphology of the nasal alae	79600	TCTN1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	79848	CSPP1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	65250	CPLANE1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	91147	TMEM67	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	91147	TMEM67	OMIM:216360
HP:0000429	Abnormal morphology of the nasal alae	91147	TMEM67	ORPHA:1454
HP:0000429	Abnormal morphology of the nasal alae	200894	ARL13B	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	9731	CEP104	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	219844	HYLS1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	23247	KATNIP	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	23247	KATNIP	OMIM:616784
HP:0000429	Abnormal morphology of the nasal alae	219854	TMEM218	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	9786	KIAA0586	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	79867	TCTN2	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	80776	B9D2	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	10464	PIBF1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	80210	ARMC9	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	23116	TOGARAM1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	23116	TOGARAM1	OMIM:619185
HP:0000429	Abnormal morphology of the nasal alae	25776	CBY1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	27077	B9D1	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	403	ARL3	ORPHA:475
HP:0000429	Abnormal morphology of the nasal alae	403	ARL3	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	403	ARL3	OMIM:618161
HP:0000429	Abnormal morphology of the nasal alae	1789	DNMT3B	OMIM:242860
HP:0000429	Abnormal morphology of the nasal alae	5518	PPP2R1A	OMIM:616362
HP:0000429	Abnormal morphology of the nasal alae	5518	PPP2R1A	ORPHA:457284
HP:0000429	Abnormal morphology of the nasal alae	253738	EBF3	OMIM:617330
HP:0000429	Abnormal morphology of the nasal alae	55768	NGLY1	OMIM:615273
HP:0000429	Abnormal morphology of the nasal alae	8493	PPM1D	OMIM:617450
HP:0000429	Abnormal morphology of the nasal alae	85301	COL27A1	OMIM:615155
HP:0000429	Abnormal morphology of the nasal alae	51604	PIGT	OMIM:615398
HP:0000429	Abnormal morphology of the nasal alae	5792	PTPRF	OMIM:616001
HP:0000429	Abnormal morphology of the nasal alae	3572	IL6ST	OMIM:619750
HP:0000429	Abnormal morphology of the nasal alae	3845	KRAS	OMIM:615278
HP:0000429	Abnormal morphology of the nasal alae	3845	KRAS	ORPHA:3339
HP:0000429	Abnormal morphology of the nasal alae	3845	KRAS	ORPHA:1340
HP:0000429	Abnormal morphology of the nasal alae	3845	KRAS	OMIM:609942
HP:0000429	Abnormal morphology of the nasal alae	27125	AFF4	OMIM:616368
HP:0000429	Abnormal morphology of the nasal alae	27125	AFF4	ORPHA:444077
HP:0000429	Abnormal morphology of the nasal alae	9841	ZBTB24	OMIM:614069
HP:0000429	Abnormal morphology of the nasal alae	51692	CPSF3	OMIM:619876
HP:0000429	Abnormal morphology of the nasal alae	3098	HK1	OMIM:618547
HP:0000429	Abnormal morphology of the nasal alae	79770	TXNDC15	OMIM:619879
HP:0000429	Abnormal morphology of the nasal alae	9091	PIGQ	OMIM:618548
HP:0000429	Abnormal morphology of the nasal alae	9091	PIGQ	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	285362	SUMF1	OMIM:272200
HP:0000429	Abnormal morphology of the nasal alae	285362	SUMF1	ORPHA:585
HP:0000429	Abnormal morphology of the nasal alae	26137	ZBTB20	OMIM:259050
HP:0000429	Abnormal morphology of the nasal alae	8314	BAP1	OMIM:619762
HP:0000429	Abnormal morphology of the nasal alae	7750	ZMYM2	OMIM:619522
HP:0000429	Abnormal morphology of the nasal alae	8733	GPAA1	ORPHA:529665
HP:0000429	Abnormal morphology of the nasal alae	8733	GPAA1	OMIM:617810
HP:0000429	Abnormal morphology of the nasal alae	253959	RALGAPA1	OMIM:618797
HP:0000429	Abnormal morphology of the nasal alae	53335	BCL11A	OMIM:617101
HP:0000429	Abnormal morphology of the nasal alae	4849	CNOT3	OMIM:618672
HP:0000429	Abnormal morphology of the nasal alae	4285	MIPEP	OMIM:617228
HP:0000429	Abnormal morphology of the nasal alae	9928	KIF14	OMIM:616258
HP:0000429	Abnormal morphology of the nasal alae	2263	FGFR2	OMIM:123790
HP:0000429	Abnormal morphology of the nasal alae	2263	FGFR2	ORPHA:1555
HP:0000429	Abnormal morphology of the nasal alae	9772	TMEM94	OMIM:618316
HP:0000429	Abnormal morphology of the nasal alae	25973	PARS2	OMIM:618437
HP:0000429	Abnormal morphology of the nasal alae	79971	WLS	OMIM:619648
HP:0000429	Abnormal morphology of the nasal alae	56975	FAM20C	ORPHA:1832
HP:0000429	Abnormal morphology of the nasal alae	2271	FH	OMIM:606812
HP:0000429	Abnormal morphology of the nasal alae	4208	MEF2C	ORPHA:228384
HP:0000429	Abnormal morphology of the nasal alae	4208	MEF2C	OMIM:613443
HP:0000429	Abnormal morphology of the nasal alae	5373	PMM2	ORPHA:79318
HP:0000429	Abnormal morphology of the nasal alae	23556	PIGN	OMIM:614080
HP:0000429	Abnormal morphology of the nasal alae	23556	PIGN	ORPHA:2059
HP:0000429	Abnormal morphology of the nasal alae	23556	PIGN	ORPHA:280633
HP:0000429	Abnormal morphology of the nasal alae	2239	GPC4	ORPHA:373
HP:0000429	Abnormal morphology of the nasal alae	2239	GPC4	OMIM:312870
HP:0000429	Abnormal morphology of the nasal alae	2719	GPC3	ORPHA:373
HP:0000429	Abnormal morphology of the nasal alae	2719	GPC3	OMIM:312870
HP:0000429	Abnormal morphology of the nasal alae	23007	PLCH1	OMIM:619895
HP:0000429	Abnormal morphology of the nasal alae	23162	MAPK8IP3	OMIM:618443
HP:0000429	Abnormal morphology of the nasal alae	54941	RNF125	OMIM:616260
HP:0000429	Abnormal morphology of the nasal alae	79989	IFT56	OMIM:619534
HP:0000429	Abnormal morphology of the nasal alae	25836	NIPBL	OMIM:122470
HP:0000429	Abnormal morphology of the nasal alae	25836	NIPBL	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	9896	FIG4	OMIM:216340
HP:0000429	Abnormal morphology of the nasal alae	9896	FIG4	ORPHA:3472
HP:0000429	Abnormal morphology of the nasal alae	8295	TRRAP	OMIM:618454
HP:0000429	Abnormal morphology of the nasal alae	5881	RAC3	OMIM:618577
HP:0000429	Abnormal morphology of the nasal alae	9427	ECEL1	OMIM:615065
HP:0000429	Abnormal morphology of the nasal alae	5587	PRKD1	OMIM:617364
HP:0000429	Abnormal morphology of the nasal alae	9851	KIAA0753	OMIM:617127
HP:0000429	Abnormal morphology of the nasal alae	51013	EXOSC1	OMIM:619304
HP:0000429	Abnormal morphology of the nasal alae	6792	CDKL5	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	6792	CDKL5	OMIM:300672
HP:0000429	Abnormal morphology of the nasal alae	3736	KCNA1	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	2775	GNAO1	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	81603	TRIM8	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	2902	GRIN1	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	79751	SLC25A22	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	150094	SIK1	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	8573	CASK	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	23312	DMXL2	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	2917	GRM7	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	170302	ARX	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	11284	PNKP	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	6326	SCN2A	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	51227	PIGP	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	6324	SCN1B	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	4761	NEUROD2	ORPHA:1934
HP:0000429	Abnormal morphology of the nasal alae	389827	MYMK	OMIM:254940
HP:0000429	Abnormal morphology of the nasal alae	389827	MYMK	ORPHA:1358
HP:0000429	Abnormal morphology of the nasal alae	2737	GLI3	ORPHA:672
HP:0000429	Abnormal morphology of the nasal alae	2737	GLI3	OMIM:146510
HP:0000429	Abnormal morphology of the nasal alae	9361	LONP1	OMIM:600373
HP:0000429	Abnormal morphology of the nasal alae	9361	LONP1	ORPHA:1458
HP:0000429	Abnormal morphology of the nasal alae	92840	REEP6	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6094	ROM1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6017	RLBP1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	7401	CLRN1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	24	ABCA4	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	130557	ZNF513	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	582	BBS1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	92211	CDHR1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	23568	ARL2BP	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6121	RPE65	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6101	RP1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	3419	IDH3A	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	4751	NEK2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	346007	EYS	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	8100	IFT88	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	23020	SNRNP200	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	762	CA4	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	138050	HGSNAT	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	196	AHR	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	3614	IMPDH1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	123016	TTC8	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6103	RPGR	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	1406	CRX	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5148	PDE6G	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	26160	IFT172	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	26121	PRPF31	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	583	BBS2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	4117	MAK	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	25794	FSCN2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	375298	CERKL	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	3420	IDH3B	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	57670	KIAA1549	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	7275	TUB	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	24148	PRPF6	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	23418	CRB1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	10461	MERTK	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	57709	SLC7A14	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	768206	PRCD	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	7399	USH2A	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	23370	ARHGEF18	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5949	RBP3	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6010	RHO	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6100	RP9	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	10002	NR2E3	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	9227	LRAT	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	84140	FAM161A	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	55812	SPATA7	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	55624	POMGNT1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	79797	ZNF408	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5145	PDE6A	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	10210	TOPORS	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	8842	PROM1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	9128	PRPF4	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	145226	RDH12	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	50939	IMPG2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	49855	SCAPER	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	9742	IFT140	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	2979	GUCA1B	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	1259	CNGA1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	1258	CNGB1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	60509	AGBL5	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5961	PRPH2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	388939	PCARE	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	7439	BEST1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	9785	DHX38	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	7287	TULP1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5995	RGR	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	9129	PRPF3	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	55975	KLHL7	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	3617	IMPG1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	94137	RP1L1	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5158	PDE6B	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6102	RP2	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	55857	KIZ	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	64218	SEMA4A	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	4901	NRL	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	157657	CFAP418	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	10594	PRPF8	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	84100	ARL6	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	6295	SAG	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	79947	DHDDS	ORPHA:791
HP:0000429	Abnormal morphology of the nasal alae	5898	RALA	OMIM:619311
HP:0000429	Abnormal morphology of the nasal alae	23013	SPEN	OMIM:619312
HP:0000429	Abnormal morphology of the nasal alae	54517	PUS7	OMIM:618342
HP:0000429	Abnormal morphology of the nasal alae	10785	WDR4	OMIM:618347
HP:0000429	Abnormal morphology of the nasal alae	79813	EHMT1	ORPHA:96147
HP:0000429	Abnormal morphology of the nasal alae	79813	EHMT1	OMIM:610253
HP:0000429	Abnormal morphology of the nasal alae	55315	SLC29A3	OMIM:602782
HP:0000429	Abnormal morphology of the nasal alae	55869	HDAC8	OMIM:300882
HP:0000429	Abnormal morphology of the nasal alae	55869	HDAC8	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	2972	BRF1	ORPHA:444072
HP:0000429	Abnormal morphology of the nasal alae	388015	RTL1	ORPHA:254528
HP:0000429	Abnormal morphology of the nasal alae	388015	RTL1	ORPHA:96184
HP:0000429	Abnormal morphology of the nasal alae	388015	RTL1	ORPHA:96334
HP:0000429	Abnormal morphology of the nasal alae	8788	DLK1	ORPHA:254528
HP:0000429	Abnormal morphology of the nasal alae	8788	DLK1	ORPHA:96184
HP:0000429	Abnormal morphology of the nasal alae	8788	DLK1	ORPHA:96334
HP:0000429	Abnormal morphology of the nasal alae	55384	MEG3	ORPHA:254528
HP:0000429	Abnormal morphology of the nasal alae	55384	MEG3	ORPHA:96184
HP:0000429	Abnormal morphology of the nasal alae	55384	MEG3	ORPHA:96334
HP:0000429	Abnormal morphology of the nasal alae	57520	HECW2	OMIM:617268
HP:0000429	Abnormal morphology of the nasal alae	23030	KDM4B	OMIM:619320
HP:0000429	Abnormal morphology of the nasal alae	6492	SIM1	ORPHA:171829
HP:0000429	Abnormal morphology of the nasal alae	23314	SATB2	ORPHA:251019
HP:0000429	Abnormal morphology of the nasal alae	23314	SATB2	OMIM:612313
HP:0000429	Abnormal morphology of the nasal alae	4081	MAB21L1	OMIM:618479
HP:0000429	Abnormal morphology of the nasal alae	9126	SMC3	OMIM:610759
HP:0000429	Abnormal morphology of the nasal alae	9126	SMC3	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	79068	FTO	OMIM:612938
HP:0000429	Abnormal morphology of the nasal alae	473	RERE	ORPHA:494344
HP:0000429	Abnormal morphology of the nasal alae	473	RERE	OMIM:616975
HP:0000429	Abnormal morphology of the nasal alae	23221	RHOBTB2	OMIM:618004
HP:0000429	Abnormal morphology of the nasal alae	22930	RAB3GAP1	OMIM:600118
HP:0000429	Abnormal morphology of the nasal alae	22930	RAB3GAP1	ORPHA:2510
HP:0000429	Abnormal morphology of the nasal alae	54496	PRMT7	OMIM:617157
HP:0000429	Abnormal morphology of the nasal alae	54496	PRMT7	ORPHA:464288
HP:0000429	Abnormal morphology of the nasal alae	92255	LMBRD2	OMIM:619694
HP:0000429	Abnormal morphology of the nasal alae	7965	AIMP2	OMIM:618006
HP:0000429	Abnormal morphology of the nasal alae	29920	PYCR2	ORPHA:481152
HP:0000429	Abnormal morphology of the nasal alae	29920	PYCR2	OMIM:616420
HP:0000429	Abnormal morphology of the nasal alae	1009	CDH11	OMIM:211380
HP:0000429	Abnormal morphology of the nasal alae	22827	PUF60	ORPHA:508488
HP:0000429	Abnormal morphology of the nasal alae	22827	PUF60	OMIM:615583
HP:0000429	Abnormal morphology of the nasal alae	2261	FGFR3	ORPHA:15
HP:0000429	Abnormal morphology of the nasal alae	80311	KLHL15	OMIM:300982
HP:0000429	Abnormal morphology of the nasal alae	6045	RNF2	OMIM:619460
HP:0000429	Abnormal morphology of the nasal alae	1781	DYNC1I2	OMIM:618492
HP:0000429	Abnormal morphology of the nasal alae	774	CACNA1B	OMIM:618497
HP:0000429	Abnormal morphology of the nasal alae	3977	LIFR	OMIM:601559
HP:0000429	Abnormal morphology of the nasal alae	5277	PIGA	OMIM:300868
HP:0000429	Abnormal morphology of the nasal alae	4613	MYCN	OMIM:164280
HP:0000429	Abnormal morphology of the nasal alae	23384	SPECC1L	OMIM:145420
HP:0000429	Abnormal morphology of the nasal alae	5573	PRKAR1A	OMIM:101800
HP:0000429	Abnormal morphology of the nasal alae	5573	PRKAR1A	ORPHA:950
HP:0000429	Abnormal morphology of the nasal alae	5573	PRKAR1A	ORPHA:280651
HP:0000429	Abnormal morphology of the nasal alae	9244	CRLF1	OMIM:272430
HP:0000429	Abnormal morphology of the nasal alae	9244	CRLF1	ORPHA:1545
HP:0000429	Abnormal morphology of the nasal alae	9343	EFTUD2	OMIM:610536
HP:0000429	Abnormal morphology of the nasal alae	6611	SMS	ORPHA:3063
HP:0000429	Abnormal morphology of the nasal alae	6611	SMS	OMIM:309583
HP:0000429	Abnormal morphology of the nasal alae	5281	PIGF	OMIM:619356
HP:0000429	Abnormal morphology of the nasal alae	6711	SPTBN1	OMIM:619475
HP:0000429	Abnormal morphology of the nasal alae	80036	TRPM3	OMIM:620224
HP:0000429	Abnormal morphology of the nasal alae	4796	TONSL	OMIM:271510
HP:0000429	Abnormal morphology of the nasal alae	4796	TONSL	ORPHA:93357
HP:0000429	Abnormal morphology of the nasal alae	57465	TBC1D24	ORPHA:79500
HP:0000429	Abnormal morphology of the nasal alae	57465	TBC1D24	OMIM:220500
HP:0000429	Abnormal morphology of the nasal alae	23405	DICER1	OMIM:618272
HP:0000429	Abnormal morphology of the nasal alae	136647	MPLKIP	OMIM:234050
HP:0000429	Abnormal morphology of the nasal alae	1457	CSNK2A1	OMIM:617062
HP:0000429	Abnormal morphology of the nasal alae	3636	INPPL1	OMIM:258480
HP:0000429	Abnormal morphology of the nasal alae	2077	ERF	OMIM:617180
HP:0000429	Abnormal morphology of the nasal alae	2571	GAD1	OMIM:619124
HP:0000429	Abnormal morphology of the nasal alae	285590	SH3PXD2B	OMIM:249420
HP:0000429	Abnormal morphology of the nasal alae	374879	ZNF699	OMIM:619488
HP:0000429	Abnormal morphology of the nasal alae	10220	GDF11	OMIM:619122
HP:0000429	Abnormal morphology of the nasal alae	9508	ADAMTS3	OMIM:618154
HP:0000429	Abnormal morphology of the nasal alae	1654	DDX3X	OMIM:300958
HP:0000429	Abnormal morphology of the nasal alae	93587	TRMT10A	ORPHA:391408
HP:0000429	Abnormal morphology of the nasal alae	84919	PPP1R15B	ORPHA:391408
HP:0000429	Abnormal morphology of the nasal alae	2799	GNS	OMIM:252940
HP:0000429	Abnormal morphology of the nasal alae	3090	HIC1	ORPHA:531
HP:0000429	Abnormal morphology of the nasal alae	5048	PAFAH1B1	ORPHA:531
HP:0000429	Abnormal morphology of the nasal alae	7531	YWHAE	ORPHA:531
HP:0000429	Abnormal morphology of the nasal alae	57020	VPS35L	OMIM:619135
HP:0000429	Abnormal morphology of the nasal alae	4781	NFIB	OMIM:618286
HP:0000429	Abnormal morphology of the nasal alae	3643	INSR	ORPHA:769
HP:0000429	Abnormal morphology of the nasal alae	84081	NSRP1	OMIM:620001
HP:0000429	Abnormal morphology of the nasal alae	7474	WNT5A	OMIM:180700
HP:0000429	Abnormal morphology of the nasal alae	7474	WNT5A	ORPHA:3107
HP:0000429	Abnormal morphology of the nasal alae	1795	DOCK3	OMIM:618292
HP:0000429	Abnormal morphology of the nasal alae	129285	PPP1R21	OMIM:619383
HP:0000429	Abnormal morphology of the nasal alae	84842	HPDL	OMIM:619026
HP:0000429	Abnormal morphology of the nasal alae	5144	PDE4D	ORPHA:950
HP:0000429	Abnormal morphology of the nasal alae	5144	PDE4D	OMIM:614613
HP:0000429	Abnormal morphology of the nasal alae	5144	PDE4D	ORPHA:280651
HP:0000429	Abnormal morphology of the nasal alae	8243	SMC1A	OMIM:300590
HP:0000429	Abnormal morphology of the nasal alae	8243	SMC1A	OMIM:301044
HP:0000429	Abnormal morphology of the nasal alae	8243	SMC1A	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	10128	LRPPRC	OMIM:220111
HP:0000429	Abnormal morphology of the nasal alae	158	ADSL	OMIM:103050
HP:0000429	Abnormal morphology of the nasal alae	158	ADSL	ORPHA:46
HP:0000429	Abnormal morphology of the nasal alae	9131	AIFM1	OMIM:300232
HP:0000429	Abnormal morphology of the nasal alae	9131	AIFM1	ORPHA:83629
HP:0000429	Abnormal morphology of the nasal alae	6309	SC5D	ORPHA:46059
HP:0000429	Abnormal morphology of the nasal alae	6309	SC5D	OMIM:607330
HP:0000429	Abnormal morphology of the nasal alae	55503	TRPV6	OMIM:618188
HP:0000429	Abnormal morphology of the nasal alae	5885	RAD21	OMIM:614701
HP:0000429	Abnormal morphology of the nasal alae	5885	RAD21	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	673	BRAF	OMIM:115150
HP:0000429	Abnormal morphology of the nasal alae	673	BRAF	ORPHA:1340
HP:0000429	Abnormal morphology of the nasal alae	145173	B3GLCT	ORPHA:709
HP:0000429	Abnormal morphology of the nasal alae	4774	NFIA	OMIM:613735
HP:0000429	Abnormal morphology of the nasal alae	2629	GBA1	OMIM:608013
HP:0000429	Abnormal morphology of the nasal alae	2629	GBA1	ORPHA:85212
HP:0000429	Abnormal morphology of the nasal alae	4281	MID1	OMIM:300000
HP:0000429	Abnormal morphology of the nasal alae	4281	MID1	ORPHA:2745
HP:0000429	Abnormal morphology of the nasal alae	80232	WDR26	ORPHA:513456
HP:0000429	Abnormal morphology of the nasal alae	80232	WDR26	OMIM:617616
HP:0000429	Abnormal morphology of the nasal alae	8443	GNPAT	OMIM:222765
HP:0000429	Abnormal morphology of the nasal alae	89910	UBE3B	OMIM:244450
HP:0000429	Abnormal morphology of the nasal alae	51506	UFC1	OMIM:618076
HP:0000429	Abnormal morphology of the nasal alae	9442	MED27	OMIM:619286
HP:0000429	Abnormal morphology of the nasal alae	2314	FLII	ORPHA:819
HP:0000429	Abnormal morphology of the nasal alae	23096	IQSEC2	ORPHA:819
HP:0000429	Abnormal morphology of the nasal alae	10743	RAI1	ORPHA:819
HP:0000429	Abnormal morphology of the nasal alae	10522	DEAF1	ORPHA:819
HP:0000429	Abnormal morphology of the nasal alae	1717	DHCR7	ORPHA:818
HP:0000429	Abnormal morphology of the nasal alae	1717	DHCR7	OMIM:270400
HP:0000429	Abnormal morphology of the nasal alae	10225	CD96	OMIM:211750
HP:0000429	Abnormal morphology of the nasal alae	10225	CD96	ORPHA:1308
HP:0000429	Abnormal morphology of the nasal alae	9382	COG1	OMIM:611209
HP:0000429	Abnormal morphology of the nasal alae	56992	KIF15	ORPHA:261323
HP:0000429	Abnormal morphology of the nasal alae	64324	NSD1	OMIM:117550
HP:0000429	Abnormal morphology of the nasal alae	9739	SETD1A	OMIM:619056
HP:0000429	Abnormal morphology of the nasal alae	5119	CHMP1A	OMIM:614961
HP:0000429	Abnormal morphology of the nasal alae	93627	TBCK	OMIM:616900
HP:0000429	Abnormal morphology of the nasal alae	2200	FBN1	ORPHA:969
HP:0000429	Abnormal morphology of the nasal alae	2200	FBN1	ORPHA:2462
HP:0000429	Abnormal morphology of the nasal alae	2200	FBN1	OMIM:102370
HP:0000429	Abnormal morphology of the nasal alae	4054	LTBP3	ORPHA:969
HP:0000429	Abnormal morphology of the nasal alae	4054	LTBP3	OMIM:617809
HP:0000429	Abnormal morphology of the nasal alae	546	ATRX	ORPHA:847
HP:0000429	Abnormal morphology of the nasal alae	546	ATRX	OMIM:309580
HP:0000429	Abnormal morphology of the nasal alae	546	ATRX	OMIM:301040
HP:0000429	Abnormal morphology of the nasal alae	55697	VAC14	ORPHA:3472
HP:0000429	Abnormal morphology of the nasal alae	26053	AUTS2	ORPHA:352490
HP:0000429	Abnormal morphology of the nasal alae	26053	AUTS2	OMIM:615834
HP:0000429	Abnormal morphology of the nasal alae	23036	ZNF292	OMIM:619188
HP:0000429	Abnormal morphology of the nasal alae	6885	MAP3K7	OMIM:157800
HP:0000429	Abnormal morphology of the nasal alae	1954	MEGF8	OMIM:614976
HP:0000429	Abnormal morphology of the nasal alae	124512	METTL23	OMIM:615942
HP:0000429	Abnormal morphology of the nasal alae	2752	GLUL	OMIM:610015
HP:0000429	Abnormal morphology of the nasal alae	3425	IDUA	OMIM:607014
HP:0000429	Abnormal morphology of the nasal alae	3425	IDUA	ORPHA:93473
HP:0000429	Abnormal morphology of the nasal alae	3265	HRAS	OMIM:218040
HP:0000429	Abnormal morphology of the nasal alae	3265	HRAS	OMIM:137550
HP:0000429	Abnormal morphology of the nasal alae	7025	NR2F1	ORPHA:401777
HP:0000429	Abnormal morphology of the nasal alae	7025	NR2F1	OMIM:615722
HP:0000429	Abnormal morphology of the nasal alae	5063	PAK3	OMIM:300558
HP:0000429	Abnormal morphology of the nasal alae	56006	SMG9	OMIM:616920
HP:0000429	Abnormal morphology of the nasal alae	1857	DVL3	ORPHA:3107
HP:0000429	Abnormal morphology of the nasal alae	1857	DVL3	OMIM:616894
HP:0000429	Abnormal morphology of the nasal alae	2535	FZD2	ORPHA:3107
HP:0000429	Abnormal morphology of the nasal alae	285175	UNC80	OMIM:616801
HP:0000429	Abnormal morphology of the nasal alae	285175	UNC80	ORPHA:371364
HP:0000429	Abnormal morphology of the nasal alae	3211	HOXB1	OMIM:614744
HP:0000429	Abnormal morphology of the nasal alae	54499	TMCO1	OMIM:213980
HP:0000429	Abnormal morphology of the nasal alae	9719	ADAMTSL2	OMIM:231050
HP:0000429	Abnormal morphology of the nasal alae	11128	POLR3A	OMIM:264090
HP:0000429	Abnormal morphology of the nasal alae	11128	POLR3A	ORPHA:3455
HP:0000429	Abnormal morphology of the nasal alae	55165	CEP55	OMIM:236500
HP:0000429	Abnormal morphology of the nasal alae	1280	COL2A1	OMIM:108300
HP:0000429	Abnormal morphology of the nasal alae	84992	PIGY	OMIM:616809
HP:0000429	Abnormal morphology of the nasal alae	471	ATIC	OMIM:608688
HP:0000429	Abnormal morphology of the nasal alae	51085	MLXIPL	OMIM:194050
HP:0000429	Abnormal morphology of the nasal alae	2006	ELN	OMIM:194050
HP:0000429	Abnormal morphology of the nasal alae	55691	FRMD4A	OMIM:616819
HP:0000429	Abnormal morphology of the nasal alae	55691	FRMD4A	ORPHA:466688
HP:0000429	Abnormal morphology of the nasal alae	63895	PIEZO2	OMIM:248700
HP:0000429	Abnormal morphology of the nasal alae	55670	PEX26	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5824	PEX19	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5828	PEX2	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	8504	PEX3	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	9409	PEX16	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5190	PEX6	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	8799	PEX11B	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5193	PEX12	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5194	PEX13	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5194	PEX13	OMIM:614883
HP:0000429	Abnormal morphology of the nasal alae	5195	PEX14	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	5192	PEX10	ORPHA:44
HP:0000429	Abnormal morphology of the nasal alae	9652	SKIC3	OMIM:222470
HP:0000429	Abnormal morphology of the nasal alae	1836	SLC26A2	ORPHA:93298
HP:0000429	Abnormal morphology of the nasal alae	9321	TRIP11	ORPHA:93299
HP:0000429	Abnormal morphology of the nasal alae	9321	TRIP11	OMIM:200600
HP:0000429	Abnormal morphology of the nasal alae	79791	FBXO31	OMIM:615979
HP:0000429	Abnormal morphology of the nasal alae	85440	DOCK7	OMIM:615859
HP:0000429	Abnormal morphology of the nasal alae	85440	DOCK7	ORPHA:411986
HP:0000429	Abnormal morphology of the nasal alae	701	BUB1B	OMIM:257300
HP:0000429	Abnormal morphology of the nasal alae	55023	PHIP	ORPHA:589905
HP:0000429	Abnormal morphology of the nasal alae	55023	PHIP	OMIM:617991
HP:0000429	Abnormal morphology of the nasal alae	2702	GJA5	OMIM:612474
HP:0000429	Abnormal morphology of the nasal alae	2703	GJA8	OMIM:612474
HP:0000429	Abnormal morphology of the nasal alae	867	CBL	OMIM:613563
HP:0000429	Abnormal morphology of the nasal alae	51025	PAM16	OMIM:613320
HP:0000429	Abnormal morphology of the nasal alae	2245	FGD1	ORPHA:915
HP:0000429	Abnormal morphology of the nasal alae	2245	FGD1	OMIM:305400
HP:0000429	Abnormal morphology of the nasal alae	6497	SKI	ORPHA:2462
HP:0000429	Abnormal morphology of the nasal alae	6497	SKI	OMIM:182212
HP:0000429	Abnormal morphology of the nasal alae	55906	ZC4H2	OMIM:301041
HP:0000429	Abnormal morphology of the nasal alae	55906	ZC4H2	OMIM:314580
HP:0000429	Abnormal morphology of the nasal alae	23394	ADNP	OMIM:615873
HP:0000429	Abnormal morphology of the nasal alae	1788	DNMT3A	OMIM:615879
HP:0000429	Abnormal morphology of the nasal alae	23028	KDM1A	OMIM:616728
HP:0000429	Abnormal morphology of the nasal alae	23028	KDM1A	ORPHA:477993
HP:0000429	Abnormal morphology of the nasal alae	5160	PDHA1	OMIM:312170
HP:0000429	Abnormal morphology of the nasal alae	84162	BLTP1	OMIM:617822
HP:0000429	Abnormal morphology of the nasal alae	3097	HIVEP2	OMIM:616977
HP:0000429	Abnormal morphology of the nasal alae	3767	KCNJ11	ORPHA:79134
HP:0000429	Abnormal morphology of the nasal alae	79731	NARS2	ORPHA:79134
HP:0000429	Abnormal morphology of the nasal alae	6833	ABCC8	ORPHA:79134
HP:0000429	Abnormal morphology of the nasal alae	5053	PAH	ORPHA:2209
HP:0000429	Abnormal morphology of the nasal alae	10265	IRX5	OMIM:611174
HP:0000429	Abnormal morphology of the nasal alae	134701	RIPPLY2	ORPHA:2311
HP:0000429	Abnormal morphology of the nasal alae	10683	DLL3	ORPHA:2311
HP:0000429	Abnormal morphology of the nasal alae	3955	LFNG	ORPHA:2311
HP:0000429	Abnormal morphology of the nasal alae	84667	HES7	ORPHA:2311
HP:0000429	Abnormal morphology of the nasal alae	145873	MESP2	ORPHA:2311
HP:0000429	Abnormal morphology of the nasal alae	91137	SLC25A46	OMIM:616505
HP:0000429	Abnormal morphology of the nasal alae	5604	MAP2K1	ORPHA:1340
HP:0000429	Abnormal morphology of the nasal alae	5605	MAP2K2	ORPHA:1340
HP:0000429	Abnormal morphology of the nasal alae	57211	ADGRG6	OMIM:616503
HP:0000429	Abnormal morphology of the nasal alae	2138	EYA1	ORPHA:2792
HP:0000429	Abnormal morphology of the nasal alae	5075	PAX1	ORPHA:2792
HP:0000429	Abnormal morphology of the nasal alae	79583	TMEM231	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	51524	TMEM138	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	23090	ZNF423	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	80184	CEP290	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	51259	TMEM216	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	57545	CC2D2A	ORPHA:2318
HP:0000429	Abnormal morphology of the nasal alae	57545	CC2D2A	ORPHA:1454
HP:0000429	Abnormal morphology of the nasal alae	10943	MSL3	OMIM:301032
HP:0000429	Abnormal morphology of the nasal alae	5745	PTH1R	ORPHA:50945
HP:0000429	Abnormal morphology of the nasal alae	8985	PLOD3	OMIM:612394
HP:0000429	Abnormal morphology of the nasal alae	128637	TBC1D20	OMIM:615663
HP:0000429	Abnormal morphology of the nasal alae	128637	TBC1D20	ORPHA:2510
HP:0000429	Abnormal morphology of the nasal alae	175	AGA	OMIM:208400
HP:0000429	Abnormal morphology of the nasal alae	55210	ATAD3A	OMIM:618810
HP:0000429	Abnormal morphology of the nasal alae	9419	CRIPT	OMIM:615789
HP:0000429	Abnormal morphology of the nasal alae	6638	SNRPN	ORPHA:177907
HP:0000429	Abnormal morphology of the nasal alae	2313	FLI1	ORPHA:2308
HP:0000429	Abnormal morphology of the nasal alae	60	ACTB	OMIM:243310
HP:0000429	Abnormal morphology of the nasal alae	23476	BRD4	ORPHA:199
HP:0000429	Abnormal morphology of the nasal alae	10664	CTCF	ORPHA:363611
HP:0000429	Abnormal morphology of the nasal alae	10367	MICU1	OMIM:615673
HP:0000429	Abnormal morphology of the nasal alae	1861	TOR1A	OMIM:618947
HP:0000429	Abnormal morphology of the nasal alae	4329	ALDH6A1	OMIM:614105
HP:0000429	Abnormal morphology of the nasal alae	5293	PIK3CD	ORPHA:221139
HP:0000429	Abnormal morphology of the nasal alae	90417	KNSTRN	ORPHA:221139
HP:0000429	Abnormal morphology of the nasal alae	8405	SPOP	OMIM:618829
HP:0000429	Abnormal morphology of the nasal alae	6925	TCF4	ORPHA:2896
HP:0000429	Abnormal morphology of the nasal alae	23545	ATP6V0A2	OMIM:219200
HP:0000429	Abnormal morphology of the nasal alae	23545	ATP6V0A2	ORPHA:357074
HP:0000429	Abnormal morphology of the nasal alae	23630	KCNE5	ORPHA:86818
HP:0000429	Abnormal morphology of the nasal alae	2182	ACSL4	ORPHA:86818
HP:0000429	Abnormal morphology of the nasal alae	9949	AMMECR1	ORPHA:86818
HP:0000429	Abnormal morphology of the nasal alae	284252	KCTD1	OMIM:181270
HP:0000429	Abnormal morphology of the nasal alae	4893	NRAS	OMIM:137550
HP:0000429	Abnormal morphology of the nasal alae	51124	IER3IP1	OMIM:614231
HP:0000429	Abnormal morphology of the nasal alae	6911	TBX6	ORPHA:1797
HP:0000429	Abnormal morphology of the nasal alae	202018	TAPT1	OMIM:616897
HP:0000429	Abnormal morphology of the nasal alae	1806	DPYD	ORPHA:1675
HP:0000429	Abnormal morphology of the nasal alae	3832	KIF11	ORPHA:2526
HP:0000429	Abnormal morphology of the nasal alae	3832	KIF11	OMIM:152950
HP:0000429	Abnormal morphology of the nasal alae	100506658	OCLN	OMIM:251290
HP:0000429	Abnormal morphology of the nasal alae	126792	B3GALT6	ORPHA:536467
HP:0000429	Abnormal morphology of the nasal alae	5331	PLCB3	OMIM:618961
HP:0000429	Abnormal morphology of the nasal alae	9320	TRIP12	OMIM:617752
HP:0000429	Abnormal morphology of the nasal alae	523	ATP6V1A	ORPHA:357074
HP:0000429	Abnormal morphology of the nasal alae	529	ATP6V1E1	ORPHA:357074
HP:0000429	Abnormal morphology of the nasal alae	529	ATP6V1E1	OMIM:617402
HP:0000429	Abnormal morphology of the nasal alae	5879	RAC1	OMIM:617751
HP:0000429	Abnormal morphology of the nasal alae	5879	RAC1	ORPHA:500159
HP:0000429	Abnormal morphology of the nasal alae	26503	SLC17A5	OMIM:269920
HP:0000429	Abnormal morphology of the nasal alae	650	BMP2	OMIM:617877
HP:0000429	Abnormal morphology of the nasal alae	738	VPS51	OMIM:618606
HP:0000429	Abnormal morphology of the nasal alae	5449	POU1F1	OMIM:613038
HP:0000429	Abnormal morphology of the nasal alae	85378	TUBGCP6	ORPHA:2518
HP:0000429	Abnormal morphology of the nasal alae	27229	TUBGCP4	ORPHA:2518
HP:0000429	Abnormal morphology of the nasal alae	10733	PLK4	ORPHA:2518
HP:0000429	Abnormal morphology of the nasal alae	9939	RBM8A	OMIM:274000
HP:0000429	Abnormal morphology of the nasal alae	4848	CNOT2	OMIM:618608
HP:0000429	Abnormal morphology of the nasal alae	25782	RAB3GAP2	ORPHA:2510
HP:0000429	Abnormal morphology of the nasal alae	22931	RAB18	ORPHA:2510
HP:0000429	Abnormal morphology of the nasal alae	64131	XYLT1	ORPHA:1425
HP:0000429	Abnormal morphology of the nasal alae	124583	CANT1	ORPHA:1425
HP:0000429	Abnormal morphology of the nasal alae	23529	CLCF1	ORPHA:1545
HP:0000429	Abnormal morphology of the nasal alae	4204	MECP2	OMIM:300260
HP:0000429	Abnormal morphology of the nasal alae	57647	DHX37	OMIM:618731
HP:0000429	Abnormal morphology of the nasal alae	23404	EXOSC2	OMIM:617763
HP:0000429	Abnormal morphology of the nasal alae	5087	PBX1	OMIM:617641
HP:0000429	Abnormal morphology of the nasal alae	92935	MARS2	OMIM:616430
HP:0000429	Abnormal morphology of the nasal alae	10082	GPC6	ORPHA:93329
HP:0000429	Abnormal morphology of the nasal alae	4858	NOVA2	OMIM:618859
HP:0000429	Abnormal morphology of the nasal alae	58499	ZNF462	OMIM:618619
HP:0000429	Abnormal morphology of the nasal alae	64840	PORCN	OMIM:305600
HP:0000429	Abnormal morphology of the nasal alae	6197	RPS6KA3	OMIM:303600
HP:0000429	Abnormal morphology of the nasal alae	6197	RPS6KA3	ORPHA:192
HP:0000429	Abnormal morphology of the nasal alae	8367	H4C5	OMIM:619950
HP:0000429	Abnormal morphology of the nasal alae	8812	CCNK	OMIM:618147
HP:0000429	Abnormal morphology of the nasal alae	5977	DPF2	OMIM:618027
HP:0000429	Abnormal morphology of the nasal alae	5977	DPF2	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	284058	KANSL1	ORPHA:363958
HP:0000429	Abnormal morphology of the nasal alae	284058	KANSL1	ORPHA:363965
HP:0000429	Abnormal morphology of the nasal alae	23461	ABCA5	OMIM:135400
HP:0000429	Abnormal morphology of the nasal alae	4763	NF1	ORPHA:139474
HP:0000429	Abnormal morphology of the nasal alae	6597	SMARCA4	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6597	SMARCA4	OMIM:614609
HP:0000429	Abnormal morphology of the nasal alae	6598	SMARCB1	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6659	SOX4	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	8289	ARID1A	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6601	SMARCC2	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6602	SMARCD1	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	57492	ARID1B	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	196528	ARID2	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6605	SMARCE1	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	6605	SMARCE1	OMIM:616938
HP:0000429	Abnormal morphology of the nasal alae	6664	SOX11	ORPHA:1465
HP:0000429	Abnormal morphology of the nasal alae	387	RHOA	OMIM:618727
HP:0000429	Abnormal morphology of the nasal alae	79005	SCNM1	OMIM:620107
HP:0000429	Abnormal morphology of the nasal alae	57688	ZSWIM6	ORPHA:1827
HP:0000429	Abnormal morphology of the nasal alae	415	ARSL	ORPHA:79345
HP:0000429	Abnormal morphology of the nasal alae	6513	SLC2A1	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	8831	SYNGAP1	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	1173	AP2M1	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	6323	SCN1A	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	340533	NEXMIF	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	1106	CHD2	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	6529	SLC6A1	ORPHA:1942
HP:0000429	Abnormal morphology of the nasal alae	5286	PIK3C2A	ORPHA:557003
HP:0000429	Abnormal morphology of the nasal alae	5728	PTEN	ORPHA:744
HP:0000429	Abnormal morphology of the nasal alae	207	AKT1	ORPHA:744
HP:0000429	Abnormal morphology of the nasal alae	2131	EXT1	ORPHA:502
HP:0000429	Abnormal morphology of the nasal alae	7227	TRPS1	ORPHA:502
HP:0000429	Abnormal morphology of the nasal alae	3756	KCNH1	OMIM:611816
HP:0000429	Abnormal morphology of the nasal alae	3756	KCNH1	ORPHA:420561
HP:0000429	Abnormal morphology of the nasal alae	6595	SMARCA2	ORPHA:3051
HP:0000429	Abnormal morphology of the nasal alae	9968	MED12	ORPHA:293707
HP:0000429	Abnormal morphology of the nasal alae	84168	ANTXR1	ORPHA:2067
HP:0000429	Abnormal morphology of the nasal alae	26057	ANKRD17	OMIM:619504
HP:0000429	Abnormal morphology of the nasal alae	5727	PTCH1	OMIM:610828
HP:0000429	Abnormal morphology of the nasal alae	2068	ERCC2	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	7507	XPA	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	2071	ERCC3	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	7508	XPC	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	1643	DDB2	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	2072	ERCC4	ORPHA:910
HP:0000429	Abnormal morphology of the nasal alae	2073	ERCC5	ORPHA:910
HP:0010641	Abnormality of the midnasal cavity	2260	FGFR1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	28514	DLL1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	2253	FGF8	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	6496	SIX3	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	7050	TGIF1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	4838	NODAL	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	6469	SHH	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	6469	SHH	OMIM:147250
HP:0010641	Abnormality of the midnasal cavity	51684	SUFU	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	7546	ZIC2	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	2619	GAS1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	84976	DISP1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	2736	GLI2	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	8928	FOXH1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	5727	PTCH1	ORPHA:280200
HP:0010641	Abnormality of the midnasal cavity	50937	CDON	ORPHA:280200
HP:0010644	Midnasal stenosis	2260	FGFR1	ORPHA:280200
HP:0010644	Midnasal stenosis	28514	DLL1	ORPHA:280200
HP:0010644	Midnasal stenosis	2253	FGF8	ORPHA:280200
HP:0010644	Midnasal stenosis	6496	SIX3	ORPHA:280200
HP:0010644	Midnasal stenosis	7050	TGIF1	ORPHA:280200
HP:0010644	Midnasal stenosis	4838	NODAL	ORPHA:280200
HP:0010644	Midnasal stenosis	6469	SHH	ORPHA:280200
HP:0010644	Midnasal stenosis	6469	SHH	OMIM:147250
HP:0010644	Midnasal stenosis	51684	SUFU	ORPHA:280200
HP:0010644	Midnasal stenosis	7546	ZIC2	ORPHA:280200
HP:0010644	Midnasal stenosis	2619	GAS1	ORPHA:280200
HP:0010644	Midnasal stenosis	84976	DISP1	ORPHA:280200
HP:0010644	Midnasal stenosis	2736	GLI2	ORPHA:280200
HP:0010644	Midnasal stenosis	8928	FOXH1	ORPHA:280200
HP:0010644	Midnasal stenosis	5727	PTCH1	ORPHA:280200
HP:0010644	Midnasal stenosis	50937	CDON	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	11146	GLMN	ORPHA:83454
HP:0010640	Abnormality of the nasal cavity	2260	FGFR1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	28514	DLL1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	2253	FGF8	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	6496	SIX3	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	7050	TGIF1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	4838	NODAL	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	6469	SHH	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	6469	SHH	OMIM:147250
HP:0010640	Abnormality of the nasal cavity	51684	SUFU	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	7546	ZIC2	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	2619	GAS1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	84976	DISP1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	2736	GLI2	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	8928	FOXH1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	5727	PTCH1	ORPHA:280200
HP:0010640	Abnormality of the nasal cavity	50937	CDON	ORPHA:280200
HP:0010645	Aplasia of the distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010645	Aplasia of the distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010645	Aplasia of the distal phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010645	Aplasia of the distal phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010646	Cervical spine instability	1311	COMP	ORPHA:750
HP:0010646	Cervical spine instability	1280	COL2A1	ORPHA:485
HP:0010646	Cervical spine instability	4088	SMAD3	OMIM:613795
HP:0010646	Cervical spine instability	7046	TGFBR1	OMIM:609192
HP:0010646	Cervical spine instability	126792	B3GALT6	ORPHA:536467
HP:0010646	Cervical spine instability	126792	B3GALT6	OMIM:615349
HP:0010646	Cervical spine instability	6662	SOX9	OMIM:114290
HP:0010646	Cervical spine instability	10940	POP1	OMIM:617396
HP:0010646	Cervical spine instability	633	BGN	OMIM:300989
HP:0010646	Cervical spine instability	415	ARSL	ORPHA:79345
HP:0010646	Cervical spine instability	7043	TGFB3	OMIM:615582
HP:0010647	Abnormal elasticity of skin	10159	ATP6AP2	OMIM:301045
HP:0010647	Abnormal elasticity of skin	11253	MAN1B1	ORPHA:397941
HP:0010647	Abnormal elasticity of skin	11253	MAN1B1	OMIM:614202
HP:0010647	Abnormal elasticity of skin	57539	WDR35	OMIM:613610
HP:0010647	Abnormal elasticity of skin	10653	SPINT2	OMIM:270420
HP:0010647	Abnormal elasticity of skin	2934	GSN	ORPHA:85448
HP:0010647	Abnormal elasticity of skin	2934	GSN	OMIM:105120
HP:0010647	Abnormal elasticity of skin	79644	SRD5A3	OMIM:612379
HP:0010647	Abnormal elasticity of skin	16	AARS1	OMIM:619691
HP:0010647	Abnormal elasticity of skin	537	ATP6AP1	OMIM:300972
HP:0010647	Abnormal elasticity of skin	64919	BCL11B	OMIM:617237
HP:0010647	Abnormal elasticity of skin	51594	NBAS	OMIM:614800
HP:0010647	Abnormal elasticity of skin	79053	ALG8	ORPHA:79325
HP:0010647	Abnormal elasticity of skin	171023	ASXL1	OMIM:605039
HP:0010647	Abnormal elasticity of skin	9742	IFT140	OMIM:266920
HP:0010647	Abnormal elasticity of skin	112752	IFT43	OMIM:614099
HP:0010647	Abnormal elasticity of skin	57728	WDR19	OMIM:614378
HP:0010647	Abnormal elasticity of skin	25871	NEPRO	OMIM:618853
HP:0010647	Abnormal elasticity of skin	1954	MEGF8	OMIM:614976
HP:0010647	Abnormal elasticity of skin	2783	GNB2	OMIM:619503
HP:0010647	Abnormal elasticity of skin	22827	PUF60	ORPHA:508498
HP:0010647	Abnormal elasticity of skin	7528	YY1	ORPHA:506358
HP:0010647	Abnormal elasticity of skin	8036	SHOC2	OMIM:607721
HP:0010647	Abnormal elasticity of skin	716	C1S	ORPHA:75392
HP:0010647	Abnormal elasticity of skin	716	C1S	OMIM:617174
HP:0010647	Abnormal elasticity of skin	10000	AKT3	OMIM:615937
HP:0010647	Abnormal elasticity of skin	9056	SLC7A7	OMIM:222700
HP:0010647	Abnormal elasticity of skin	5159	PDGFRB	OMIM:616592
HP:0010647	Abnormal elasticity of skin	64132	XYLT2	ORPHA:85194
HP:0010647	Abnormal elasticity of skin	11285	B4GALT7	ORPHA:75496
HP:0010647	Abnormal elasticity of skin	11285	B4GALT7	OMIM:130070
HP:0010647	Abnormal elasticity of skin	2316	FLNA	ORPHA:75497
HP:0010647	Abnormal elasticity of skin	2316	FLNA	ORPHA:555877
HP:0010647	Abnormal elasticity of skin	23233	EXOC6B	ORPHA:93359
HP:0010647	Abnormal elasticity of skin	3643	INSR	ORPHA:508
HP:0010647	Abnormal elasticity of skin	1836	SLC26A2	ORPHA:628
HP:0010647	Abnormal elasticity of skin	79813	EHMT1	ORPHA:261652
HP:0010647	Abnormal elasticity of skin	58508	KMT2C	ORPHA:261652
HP:0010647	Abnormal elasticity of skin	79971	WLS	OMIM:619648
HP:0010647	Abnormal elasticity of skin	6497	SKI	OMIM:182212
HP:0010647	Abnormal elasticity of skin	6497	SKI	ORPHA:2462
HP:0010647	Abnormal elasticity of skin	2629	GBA1	ORPHA:2072
HP:0010647	Abnormal elasticity of skin	6603	SMARCD2	OMIM:617475
HP:0010647	Abnormal elasticity of skin	9469	CHST3	OMIM:245600
HP:0010647	Abnormal elasticity of skin	26229	B3GAT3	OMIM:245600
HP:0010647	Abnormal elasticity of skin	91252	SLC39A13	ORPHA:157965
HP:0010647	Abnormal elasticity of skin	91252	SLC39A13	OMIM:612350
HP:0010647	Abnormal elasticity of skin	2245	FGD1	ORPHA:915
HP:0010647	Abnormal elasticity of skin	3835	KIF22	OMIM:603546
HP:0010647	Abnormal elasticity of skin	1896	EDA	OMIM:305100
HP:0010647	Abnormal elasticity of skin	54496	PRMT7	OMIM:617157
HP:0010647	Abnormal elasticity of skin	1278	COL1A2	OMIM:225320
HP:0010647	Abnormal elasticity of skin	1278	COL1A2	OMIM:617821
HP:0010647	Abnormal elasticity of skin	9091	PIGQ	OMIM:618548
HP:0010647	Abnormal elasticity of skin	6678	SPARC	OMIM:616507
HP:0010647	Abnormal elasticity of skin	5076	PAX2	OMIM:120330
HP:0010647	Abnormal elasticity of skin	1303	COL12A1	ORPHA:536516
HP:0010647	Abnormal elasticity of skin	4125	MAN2B1	ORPHA:309282
HP:0010647	Abnormal elasticity of skin	4507	MTAP	OMIM:112250
HP:0010647	Abnormal elasticity of skin	6885	MAP3K7	OMIM:157800
HP:0010647	Abnormal elasticity of skin	25	ABL1	OMIM:617602
HP:0010647	Abnormal elasticity of skin	126792	B3GALT6	OMIM:615349
HP:0010647	Abnormal elasticity of skin	55033	FKBP14	OMIM:614557
HP:0010647	Abnormal elasticity of skin	526	ATP6V1B2	ORPHA:3473
HP:0010647	Abnormal elasticity of skin	3756	KCNH1	ORPHA:3473
HP:0010647	Abnormal elasticity of skin	3782	KCNN3	ORPHA:3473
HP:0010647	Abnormal elasticity of skin	11107	PRDM5	ORPHA:90354
HP:0010647	Abnormal elasticity of skin	3636	INPPL1	OMIM:258480
HP:0010647	Abnormal elasticity of skin	10367	MICU1	OMIM:615673
HP:0010647	Abnormal elasticity of skin	6651	SON	ORPHA:500150
HP:0010647	Abnormal elasticity of skin	4256	MGP	ORPHA:85202
HP:0010647	Abnormal elasticity of skin	3376	IARS1	ORPHA:541423
HP:0010647	Abnormal elasticity of skin	64131	XYLT1	ORPHA:370930
HP:0010647	Abnormal elasticity of skin	4088	SMAD3	ORPHA:284984
HP:0010647	Abnormal elasticity of skin	4088	SMAD3	OMIM:613795
HP:0010647	Abnormal elasticity of skin	8450	CUL4B	OMIM:300354
HP:0010647	Abnormal elasticity of skin	84196	USP48	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	7157	TP53	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	7157	TP53	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	9101	USP8	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	9101	USP8	OMIM:219090
HP:0010647	Abnormal elasticity of skin	64072	CDH23	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	2908	NR3C1	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	673	BRAF	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	546	ATRX	ORPHA:96253
HP:0010647	Abnormal elasticity of skin	23013	SPEN	OMIM:619312
HP:0010647	Abnormal elasticity of skin	2200	FBN1	OMIM:154700
HP:0010647	Abnormal elasticity of skin	2200	FBN1	OMIM:608328
HP:0010647	Abnormal elasticity of skin	2200	FBN1	OMIM:604308
HP:0010647	Abnormal elasticity of skin	1315	COPB1	OMIM:619255
HP:0010647	Abnormal elasticity of skin	5566	PRKACA	ORPHA:189439
HP:0010647	Abnormal elasticity of skin	8622	PDE8B	ORPHA:189439
HP:0010647	Abnormal elasticity of skin	5573	PRKAR1A	ORPHA:189439
HP:0010647	Abnormal elasticity of skin	5573	PRKAR1A	OMIM:610489
HP:0010647	Abnormal elasticity of skin	5573	PRKAR1A	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	5573	PRKAR1A	ORPHA:1359
HP:0010647	Abnormal elasticity of skin	50940	PDE11A	ORPHA:189439
HP:0010647	Abnormal elasticity of skin	50940	PDE11A	OMIM:610475
HP:0010647	Abnormal elasticity of skin	50940	PDE11A	ORPHA:1359
HP:0010647	Abnormal elasticity of skin	4087	SMAD2	OMIM:619656
HP:0010647	Abnormal elasticity of skin	2778	GNAS	OMIM:219080
HP:0010647	Abnormal elasticity of skin	2778	GNAS	ORPHA:189427
HP:0010647	Abnormal elasticity of skin	7048	TGFBR2	OMIM:610168
HP:0010647	Abnormal elasticity of skin	7048	TGFBR2	ORPHA:60030
HP:0010647	Abnormal elasticity of skin	84133	ZNRF3	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	1499	CTNNB1	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	1029	CDKN2A	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	7015	TERT	ORPHA:1501
HP:0010647	Abnormal elasticity of skin	1277	COL1A1	ORPHA:287
HP:0010647	Abnormal elasticity of skin	1289	COL5A1	ORPHA:287
HP:0010647	Abnormal elasticity of skin	1289	COL5A1	OMIM:619329
HP:0010647	Abnormal elasticity of skin	1290	COL5A2	ORPHA:287
HP:0010647	Abnormal elasticity of skin	7148	TNXB	OMIM:606408
HP:0010647	Abnormal elasticity of skin	633	BGN	OMIM:300989
HP:0010647	Abnormal elasticity of skin	4015	LOX	OMIM:617168
HP:0010647	Abnormal elasticity of skin	1742	DLG4	OMIM:618793
HP:0010647	Abnormal elasticity of skin	7046	TGFBR1	ORPHA:60030
HP:0010647	Abnormal elasticity of skin	10526	IPO8	ORPHA:60030
HP:0010647	Abnormal elasticity of skin	79798	ARMC5	ORPHA:189427
HP:0010647	Abnormal elasticity of skin	9049	AIP	OMIM:219090
HP:0010647	Abnormal elasticity of skin	5167	ENPP1	ORPHA:758
HP:0010647	Abnormal elasticity of skin	368	ABCC6	ORPHA:758
HP:0010647	Abnormal elasticity of skin	7042	TGFB2	OMIM:614816
HP:0010647	Abnormal elasticity of skin	6197	RPS6KA3	ORPHA:192
HP:0010647	Abnormal elasticity of skin	8425	LTBP4	OMIM:613177
HP:0010647	Abnormal elasticity of skin	9791	PTDSS1	ORPHA:2658
HP:0010647	Abnormal elasticity of skin	29957	SLC25A24	OMIM:612289
HP:0010647	Abnormal elasticity of skin	29957	SLC25A24	ORPHA:2963
HP:0010647	Abnormal elasticity of skin	117581	TWIST2	OMIM:209885
HP:0010647	Abnormal elasticity of skin	117581	TWIST2	OMIM:200110
HP:0010647	Abnormal elasticity of skin	117581	TWIST2	ORPHA:1231
HP:0010647	Abnormal elasticity of skin	117581	TWIST2	ORPHA:920
HP:0010647	Abnormal elasticity of skin	117581	TWIST2	ORPHA:1807
HP:0010647	Abnormal elasticity of skin	2677	GGCX	ORPHA:436274
HP:0010647	Abnormal elasticity of skin	2677	GGCX	ORPHA:91135
HP:0010647	Abnormal elasticity of skin	6804	STX1A	ORPHA:904
HP:0010647	Abnormal elasticity of skin	7461	CLIP2	ORPHA:904
HP:0010647	Abnormal elasticity of skin	84277	DNAJC30	ORPHA:904
HP:0010647	Abnormal elasticity of skin	8468	FKBP6	ORPHA:904
HP:0010647	Abnormal elasticity of skin	5982	RFC2	ORPHA:904
HP:0010647	Abnormal elasticity of skin	2969	GTF2I	ORPHA:904
HP:0010647	Abnormal elasticity of skin	3984	LIMK1	ORPHA:904
HP:0010647	Abnormal elasticity of skin	9569	GTF2IRD1	ORPHA:904
HP:0010647	Abnormal elasticity of skin	155382	VPS37D	ORPHA:904
HP:0010647	Abnormal elasticity of skin	155368	METTL27	ORPHA:904
HP:0010647	Abnormal elasticity of skin	114049	BUD23	ORPHA:904
HP:0010647	Abnormal elasticity of skin	7458	EIF4H	ORPHA:904
HP:0010647	Abnormal elasticity of skin	84163	GTF2IRD2	ORPHA:904
HP:0010647	Abnormal elasticity of skin	9275	BCL7B	ORPHA:904
HP:0010647	Abnormal elasticity of skin	26608	TBL2	ORPHA:904
HP:0010647	Abnormal elasticity of skin	653361	NCF1	ORPHA:904
HP:0010647	Abnormal elasticity of skin	135886	TMEM270	ORPHA:904
HP:0010647	Abnormal elasticity of skin	51085	MLXIPL	ORPHA:904
HP:0010647	Abnormal elasticity of skin	9031	BAZ1B	ORPHA:904
HP:0010647	Abnormal elasticity of skin	2006	ELN	ORPHA:904
HP:0010647	Abnormal elasticity of skin	2006	ELN	OMIM:123700
HP:0010647	Abnormal elasticity of skin	2006	ELN	ORPHA:90348
HP:0010647	Abnormal elasticity of skin	3008	H1-4	OMIM:617537
HP:0010647	Abnormal elasticity of skin	81031	SLC2A10	ORPHA:3342
HP:0010647	Abnormal elasticity of skin	538	ATP7A	OMIM:304150
HP:0010647	Abnormal elasticity of skin	3248	HPGD	OMIM:259100
HP:0010647	Abnormal elasticity of skin	2131	EXT1	ORPHA:502
HP:0010647	Abnormal elasticity of skin	7227	TRPS1	ORPHA:502
HP:0010647	Abnormal elasticity of skin	5308	PITX2	ORPHA:782
HP:0010647	Abnormal elasticity of skin	2296	FOXC1	ORPHA:782
HP:0010647	Abnormal elasticity of skin	6535	SLC6A8	ORPHA:52503
HP:0010647	Abnormal elasticity of skin	54453	RIN2	ORPHA:217335
HP:0010647	Abnormal elasticity of skin	54453	RIN2	OMIM:613075
HP:0010647	Abnormal elasticity of skin	26281	FGF20	OMIM:615721
HP:0010647	Abnormal elasticity of skin	54539	NDUFB11	OMIM:301021
HP:0010647	Abnormal elasticity of skin	523	ATP6V1A	ORPHA:357074
HP:0010647	Abnormal elasticity of skin	523	ATP6V1A	OMIM:617403
HP:0010647	Abnormal elasticity of skin	529	ATP6V1E1	ORPHA:357074
HP:0010647	Abnormal elasticity of skin	165	AEBP1	OMIM:618000
HP:0010647	Abnormal elasticity of skin	165	AEBP1	ORPHA:536532
HP:0010647	Abnormal elasticity of skin	8260	NAA10	OMIM:300855
HP:0010647	Abnormal elasticity of skin	113189	CHST14	ORPHA:2953
HP:0010647	Abnormal elasticity of skin	29940	DSE	ORPHA:2953
HP:0010647	Abnormal elasticity of skin	84168	ANTXR1	OMIM:230740
HP:0010647	Abnormal elasticity of skin	10516	FBLN5	ORPHA:90348
HP:0010647	Abnormal elasticity of skin	10516	FBLN5	ORPHA:90349
HP:0010647	Abnormal elasticity of skin	10516	FBLN5	OMIM:219100
HP:0010647	Abnormal elasticity of skin	5832	ALDH18A1	ORPHA:90348
HP:0010647	Abnormal elasticity of skin	4052	LTBP1	ORPHA:90349
HP:0010647	Abnormal elasticity of skin	30008	EFEMP2	ORPHA:90349
HP:0010647	Abnormal elasticity of skin	5831	PYCR1	OMIM:612940
HP:0010647	Abnormal elasticity of skin	5831	PYCR1	ORPHA:2078
HP:0010647	Abnormal elasticity of skin	92344	GORAB	ORPHA:2078
HP:0010647	Abnormal elasticity of skin	5604	MAP2K1	ORPHA:1340
HP:0010647	Abnormal elasticity of skin	5605	MAP2K2	ORPHA:1340
HP:0010647	Abnormal elasticity of skin	3845	KRAS	ORPHA:1340
HP:0010647	Abnormal elasticity of skin	10225	CD96	ORPHA:1308
HP:0010647	Abnormal elasticity of skin	79087	ALG12	ORPHA:79324
HP:0010647	Abnormal elasticity of skin	64324	NSD1	ORPHA:3447
HP:0010647	Abnormal elasticity of skin	8726	EED	ORPHA:3447
HP:0010647	Abnormal elasticity of skin	23512	SUZ12	ORPHA:3447
HP:0010647	Abnormal elasticity of skin	2146	EZH2	ORPHA:3447
HP:0010647	Abnormal elasticity of skin	3265	HRAS	ORPHA:3071
HP:0010647	Abnormal elasticity of skin	1281	COL3A1	ORPHA:286
HP:0010647	Abnormal elasticity of skin	9509	ADAMTS2	OMIM:225410
HP:0010647	Abnormal elasticity of skin	2879	GPX4	OMIM:250220
HP:0010647	Abnormal elasticity of skin	84231	TRAF7	OMIM:618164
HP:0010647	Abnormal elasticity of skin	55165	CEP55	OMIM:236500
HP:0010647	Abnormal elasticity of skin	6913	TBX15	ORPHA:93333
HP:0010647	Abnormal elasticity of skin	55593	OTUD5	OMIM:301056
HP:0010647	Abnormal elasticity of skin	9896	FIG4	OMIM:216340
HP:0010647	Abnormal elasticity of skin	9896	FIG4	ORPHA:3472
HP:0010647	Abnormal elasticity of skin	56945	MRPS22	OMIM:611719
HP:0010647	Abnormal elasticity of skin	79848	CSPP1	ORPHA:397715
HP:0010647	Abnormal elasticity of skin	9786	KIAA0586	ORPHA:397715
HP:0010647	Abnormal elasticity of skin	10682	EBP	OMIM:300960
HP:0010647	Abnormal elasticity of skin	55697	VAC14	ORPHA:3472
HP:0010647	Abnormal elasticity of skin	4716	NDUFB10	OMIM:619003
HP:0010647	Abnormal elasticity of skin	285590	SH3PXD2B	OMIM:249420
HP:0010647	Abnormal elasticity of skin	22884	WDR37	OMIM:618652
HP:0010647	Abnormal elasticity of skin	2623	GATA1	OMIM:190685
HP:0010647	Abnormal elasticity of skin	8621	CDK13	OMIM:617360
HP:0010647	Abnormal elasticity of skin	388015	RTL1	ORPHA:254528
HP:0010647	Abnormal elasticity of skin	388015	RTL1	ORPHA:96334
HP:0010647	Abnormal elasticity of skin	8788	DLK1	ORPHA:254528
HP:0010647	Abnormal elasticity of skin	8788	DLK1	ORPHA:96334
HP:0010647	Abnormal elasticity of skin	55384	MEG3	ORPHA:254528
HP:0010647	Abnormal elasticity of skin	55384	MEG3	ORPHA:96334
HP:0010647	Abnormal elasticity of skin	51021	MRPS16	OMIM:610498
HP:0010647	Abnormal elasticity of skin	124997	WDR81	OMIM:617967
HP:0010647	Abnormal elasticity of skin	2683	B4GALT1	ORPHA:79332
HP:0010647	Abnormal elasticity of skin	5189	PEX1	OMIM:214100
HP:0010647	Abnormal elasticity of skin	6595	SMARCA2	OMIM:601358
HP:0010647	Abnormal elasticity of skin	6595	SMARCA2	ORPHA:3051
HP:0010647	Abnormal elasticity of skin	91949	COG7	OMIM:608779
HP:0010647	Abnormal elasticity of skin	91949	COG7	ORPHA:79333
HP:0010647	Abnormal elasticity of skin	5295	PIK3R1	ORPHA:3163
HP:0010647	Abnormal elasticity of skin	8367	H4C5	OMIM:619950
HP:0010647	Abnormal elasticity of skin	9719	ADAMTSL2	ORPHA:1901
HP:0010647	Abnormal elasticity of skin	51750	RTEL1	ORPHA:3322
HP:0010647	Abnormal elasticity of skin	65057	ACD	ORPHA:3322
HP:0010647	Abnormal elasticity of skin	5073	PARN	ORPHA:3322
HP:0010647	Abnormal elasticity of skin	26277	TINF2	ORPHA:3322
HP:0010647	Abnormal elasticity of skin	1736	DKC1	ORPHA:3322
HP:0010647	Abnormal elasticity of skin	5781	PTPN11	ORPHA:500
HP:0010647	Abnormal elasticity of skin	5894	RAF1	ORPHA:500
HP:0010647	Abnormal elasticity of skin	5728	PTEN	ORPHA:137608
HP:0010647	Abnormal elasticity of skin	1080	CFTR	ORPHA:498359
HP:0010647	Abnormal elasticity of skin	4882	NPR2	OMIM:602875
HP:0010647	Abnormal elasticity of skin	715	C1R	OMIM:130080
HP:0010647	Abnormal elasticity of skin	2261	FGFR3	OMIM:616482
HP:0010647	Abnormal elasticity of skin	22808	MRAS	OMIM:618499
HP:0010647	Abnormal elasticity of skin	5351	PLOD1	OMIM:225400
HP:0010647	Abnormal elasticity of skin	8216	LZTR1	OMIM:616564
HP:0010647	Abnormal elasticity of skin	8216	LZTR1	OMIM:605275
HP:0010647	Abnormal elasticity of skin	84627	ZNF469	OMIM:229200
HP:0010647	Abnormal elasticity of skin	6016	RIT1	OMIM:615355
HP:0010647	Abnormal elasticity of skin	2263	FGFR2	OMIM:123790
HP:0010647	Abnormal elasticity of skin	23545	ATP6V0A2	OMIM:278250
HP:0010647	Abnormal elasticity of skin	203068	TUBB	ORPHA:2505
HP:0010647	Abnormal elasticity of skin	10982	MAPRE2	ORPHA:2505
HP:0010647	Abnormal elasticity of skin	9333	TGM5	ORPHA:263534
HP:0010647	Abnormal elasticity of skin	1475	CSTA	ORPHA:263534
HP:0010647	Abnormal elasticity of skin	79718	TBL1XR1	ORPHA:487825
HP:0010647	Abnormal elasticity of skin	9325	TRIP4	ORPHA:486815
HP:0010647	Abnormal elasticity of skin	4000	LMNA	ORPHA:740
HP:0010647	Abnormal elasticity of skin	4000	LMNA	ORPHA:79474
HP:0010647	Abnormal elasticity of skin	4000	LMNA	ORPHA:90153
HP:0010647	Abnormal elasticity of skin	10269	ZMPSTE24	ORPHA:740
HP:0010647	Abnormal elasticity of skin	7051	TGM1	ORPHA:281127
HP:0010647	Abnormal elasticity of skin	7051	TGM1	ORPHA:313
HP:0010647	Abnormal elasticity of skin	56916	SMARCAD1	ORPHA:384
HP:0010647	Abnormal elasticity of skin	5424	POLD1	OMIM:615381
HP:0010647	Abnormal elasticity of skin	5053	PAH	ORPHA:79254
HP:0010647	Abnormal elasticity of skin	10651	MTX2	ORPHA:90153
HP:0010647	Abnormal elasticity of skin	7486	WRN	ORPHA:902
HP:0010647	Abnormal elasticity of skin	151516	ASPRV1	ORPHA:313
HP:0010647	Abnormal elasticity of skin	242	ALOX12B	ORPHA:313
HP:0010647	Abnormal elasticity of skin	126410	CYP4F22	ORPHA:313
HP:0010647	Abnormal elasticity of skin	6820	SULT2B1	ORPHA:313
HP:0010647	Abnormal elasticity of skin	26154	ABCA12	ORPHA:313
HP:0010647	Abnormal elasticity of skin	643418	LIPN	ORPHA:313
HP:0010647	Abnormal elasticity of skin	59344	ALOXE3	ORPHA:313
HP:0010647	Abnormal elasticity of skin	348938	NIPAL4	ORPHA:313
HP:0010647	Abnormal elasticity of skin	121214	SDR9C7	ORPHA:313
HP:0010648	Dermal translucency	54345	SOX18	OMIM:137940
HP:0010648	Dermal translucency	1281	COL3A1	OMIM:130050
HP:0010648	Dermal translucency	1281	COL3A1	OMIM:618343
HP:0010648	Dermal translucency	1281	COL3A1	ORPHA:286
HP:0010648	Dermal translucency	126792	B3GALT6	ORPHA:536467
HP:0010648	Dermal translucency	126792	B3GALT6	OMIM:615349
HP:0010648	Dermal translucency	1277	COL1A1	OMIM:619115
HP:0010648	Dermal translucency	54914	FOCAD	OMIM:619991
HP:0010648	Dermal translucency	29957	SLC25A24	OMIM:612289
HP:0010648	Dermal translucency	117581	TWIST2	OMIM:209885
HP:0010648	Dermal translucency	2006	ELN	ORPHA:90348
HP:0010648	Dermal translucency	10516	FBLN5	ORPHA:90348
HP:0010648	Dermal translucency	5832	ALDH18A1	ORPHA:90348
HP:0010648	Dermal translucency	5832	ALDH18A1	OMIM:616603
HP:0010648	Dermal translucency	4088	SMAD3	OMIM:613795
HP:0010648	Dermal translucency	4000	LMNA	ORPHA:1662
HP:0010648	Dermal translucency	10269	ZMPSTE24	ORPHA:1662
HP:0010648	Dermal translucency	7048	TGFBR2	OMIM:610168
HP:0010648	Dermal translucency	3376	IARS1	ORPHA:541423
HP:0010648	Dermal translucency	1105	CHD1	OMIM:617682
HP:0010648	Dermal translucency	1105	CHD1	ORPHA:529965
HP:0010648	Dermal translucency	9509	ADAMTS2	OMIM:225410
HP:0010648	Dermal translucency	1278	COL1A2	OMIM:619120
HP:0010648	Dermal translucency	80169	CTC1	OMIM:612199
HP:0010648	Dermal translucency	30008	EFEMP2	OMIM:614437
HP:0010648	Dermal translucency	7046	TGFBR1	OMIM:609192
HP:0010648	Dermal translucency	5500	PPP1CB	OMIM:617506
HP:0010648	Dermal translucency	5831	PYCR1	OMIM:614438
HP:0010648	Dermal translucency	1289	COL5A1	OMIM:619329
HP:0010648	Dermal translucency	11128	POLR3A	ORPHA:3455
HP:0010649	Flat nasal alae	5727	PTCH1	OMIM:610828
HP:0010649	Flat nasal alae	2068	ERCC2	ORPHA:910
HP:0010649	Flat nasal alae	7507	XPA	ORPHA:910
HP:0010649	Flat nasal alae	2071	ERCC3	ORPHA:910
HP:0010649	Flat nasal alae	7508	XPC	ORPHA:910
HP:0010649	Flat nasal alae	1643	DDB2	ORPHA:910
HP:0010649	Flat nasal alae	2072	ERCC4	ORPHA:910
HP:0010649	Flat nasal alae	2073	ERCC5	ORPHA:910
HP:0200058	Angiosarcoma	2324	FLT4	ORPHA:79452
HP:0200058	Angiosarcoma	57165	GJC2	ORPHA:79452
HP:0200058	Angiosarcoma	2050	EPHB4	ORPHA:90186
HP:0200057	Marcus Gunn pupil	6452	SH3BP2	OMIM:118400
HP:0200056	Macular scar	4982	TNFRSF11B	OMIM:239000
HP:0200056	Macular scar	3105	HLA-A	ORPHA:179
HP:0200056	Macular scar	3426	CFI	OMIM:615439
HP:0200056	Macular scar	6452	SH3BP2	OMIM:118400
HP:0200056	Macular scar	64802	NMNAT1	OMIM:608553
HP:0200055	Small hand	8243	SMC1A	OMIM:300590
HP:0200055	Small hand	8243	SMC1A	OMIM:301044
HP:0200055	Small hand	8243	SMC1A	ORPHA:3095
HP:0200055	Small hand	8243	SMC1A	ORPHA:199
HP:0200055	Small hand	388015	RTL1	ORPHA:254531
HP:0200055	Small hand	388015	RTL1	ORPHA:254525
HP:0200055	Small hand	388015	RTL1	ORPHA:96184
HP:0200055	Small hand	8788	DLK1	ORPHA:254531
HP:0200055	Small hand	8788	DLK1	ORPHA:254525
HP:0200055	Small hand	8788	DLK1	ORPHA:96184
HP:0200055	Small hand	55384	MEG3	ORPHA:254531
HP:0200055	Small hand	55384	MEG3	ORPHA:254525
HP:0200055	Small hand	55384	MEG3	ORPHA:96184
HP:0200055	Small hand	8450	CUL4B	OMIM:300354
HP:0200055	Small hand	8450	CUL4B	ORPHA:85293
HP:0200055	Small hand	26128	KIFBP	OMIM:609460
HP:0200055	Small hand	124997	WDR81	OMIM:610185
HP:0200055	Small hand	9698	PUM1	OMIM:617931
HP:0200055	Small hand	23394	ADNP	OMIM:615873
HP:0200055	Small hand	23314	SATB2	ORPHA:251028
HP:0200055	Small hand	9759	HDAC4	ORPHA:1001
HP:0200055	Small hand	781	CACNA2D1	OMIM:620149
HP:0200055	Small hand	123263	MTFMT	OMIM:614947
HP:0200055	Small hand	7681	MKRN3	OMIM:176270
HP:0200055	Small hand	3653	IPW	OMIM:176270
HP:0200055	Small hand	54551	MAGEL2	OMIM:176270
HP:0200055	Small hand	54551	MAGEL2	ORPHA:177904
HP:0200055	Small hand	54551	MAGEL2	ORPHA:177901
HP:0200055	Small hand	54551	MAGEL2	ORPHA:398069
HP:0200055	Small hand	54551	MAGEL2	ORPHA:177910
HP:0200055	Small hand	54551	MAGEL2	OMIM:615547
HP:0200055	Small hand	54551	MAGEL2	ORPHA:98754
HP:0200055	Small hand	791114	PWRN1	OMIM:176270
HP:0200055	Small hand	100033413	SNORD116-1	OMIM:176270
HP:0200055	Small hand	8924	HERC2	OMIM:176270
HP:0200055	Small hand	145624	PWAR1	OMIM:176270
HP:0200055	Small hand	23742	NPAP1	OMIM:176270
HP:0200055	Small hand	338433	SNORD115-1	OMIM:176270
HP:0200055	Small hand	9401	RECQL4	OMIM:268400
HP:0200055	Small hand	27125	AFF4	ORPHA:444077
HP:0200055	Small hand	6792	CDKL5	ORPHA:3095
HP:0200055	Small hand	6792	CDKL5	OMIM:300672
HP:0200055	Small hand	22854	NTNG1	ORPHA:3095
HP:0200055	Small hand	9568	GABBR2	ORPHA:3095
HP:0200055	Small hand	9568	GABBR2	OMIM:617903
HP:0200055	Small hand	4204	MECP2	ORPHA:3095
HP:0200055	Small hand	4204	MECP2	OMIM:300055
HP:0200055	Small hand	55869	HDAC8	OMIM:300882
HP:0200055	Small hand	55869	HDAC8	ORPHA:199
HP:0200055	Small hand	55869	HDAC8	ORPHA:3459
HP:0200055	Small hand	79868	ALG13	OMIM:300884
HP:0200055	Small hand	1062	CENPE	OMIM:616051
HP:0200055	Small hand	6651	SON	OMIM:617140
HP:0200055	Small hand	6905	TBCE	ORPHA:2323
HP:0200055	Small hand	6905	TBCE	OMIM:241410
HP:0200055	Small hand	6905	TBCE	OMIM:244460
HP:0200055	Small hand	6905	TBCE	ORPHA:93324
HP:0200055	Small hand	6492	SIM1	ORPHA:398079
HP:0200055	Small hand	55784	MCTP2	ORPHA:1596
HP:0200055	Small hand	8085	KMT2D	ORPHA:2322
HP:0200055	Small hand	7403	KDM6A	ORPHA:2322
HP:0200055	Small hand	9382	COG1	OMIM:611209
HP:0200055	Small hand	9126	SMC3	OMIM:610759
HP:0200055	Small hand	9126	SMC3	ORPHA:199
HP:0200055	Small hand	4297	KMT2A	OMIM:605130
HP:0200055	Small hand	6638	SNRPN	ORPHA:177904
HP:0200055	Small hand	6638	SNRPN	ORPHA:177901
HP:0200055	Small hand	6638	SNRPN	ORPHA:177910
HP:0200055	Small hand	6638	SNRPN	ORPHA:177907
HP:0200055	Small hand	6638	SNRPN	ORPHA:98754
HP:0200055	Small hand	4692	NDN	ORPHA:177904
HP:0200055	Small hand	4692	NDN	ORPHA:177901
HP:0200055	Small hand	4692	NDN	ORPHA:177910
HP:0200055	Small hand	4692	NDN	ORPHA:98754
HP:0200055	Small hand	4948	OCA2	ORPHA:177904
HP:0200055	Small hand	4948	OCA2	ORPHA:177901
HP:0200055	Small hand	4948	OCA2	ORPHA:98754
HP:0200055	Small hand	2263	FGFR2	ORPHA:93260
HP:0200055	Small hand	2263	FGFR2	ORPHA:93259
HP:0200055	Small hand	6023	RMRP	ORPHA:175
HP:0200055	Small hand	2590	GALNT2	OMIM:618885
HP:0200055	Small hand	4998	ORC1	OMIM:224690
HP:0200055	Small hand	80204	FBXO11	OMIM:618089
HP:0200055	Small hand	3064	HTT	OMIM:617435
HP:0200055	Small hand	10381	TUBB3	ORPHA:300570
HP:0200055	Small hand	1147	CHUK	OMIM:619339
HP:0200055	Small hand	2200	FBN1	ORPHA:969
HP:0200055	Small hand	4054	LTBP3	ORPHA:969
HP:0200055	Small hand	3759	KCNJ2	OMIM:170390
HP:0200055	Small hand	3759	KCNJ2	ORPHA:37553
HP:0200055	Small hand	3248	HPGD	ORPHA:2796
HP:0200055	Small hand	6578	SLCO2A1	ORPHA:2796
HP:0200055	Small hand	7703	PCGF2	OMIM:618371
HP:0200055	Small hand	6045	RNF2	OMIM:619460
HP:0200055	Small hand	25942	SIN3A	ORPHA:94065
HP:0200055	Small hand	25942	SIN3A	OMIM:613406
HP:0200055	Small hand	1501	CTNND2	ORPHA:281
HP:0200055	Small hand	9037	SEMA5A	ORPHA:281
HP:0200055	Small hand	1301	COL11A1	OMIM:228520
HP:0200055	Small hand	23384	SPECC1L	OMIM:145420
HP:0200055	Small hand	6304	SATB1	OMIM:619229
HP:0200055	Small hand	6602	SMARCD1	OMIM:618779
HP:0200055	Small hand	2121	EVC	ORPHA:952
HP:0200055	Small hand	132884	EVC2	ORPHA:952
HP:0200055	Small hand	2697	GJA1	OMIM:257850
HP:0200055	Small hand	23476	BRD4	ORPHA:199
HP:0200055	Small hand	25836	NIPBL	ORPHA:199
HP:0200055	Small hand	5885	RAD21	ORPHA:199
HP:0200055	Small hand	3981	LIG4	ORPHA:235
HP:0200055	Small hand	54888	NSUN2	ORPHA:235
HP:0200055	Small hand	55768	NGLY1	OMIM:615273
HP:0200055	Small hand	7874	USP7	ORPHA:500055
HP:0200055	Small hand	8493	PPM1D	OMIM:617450
HP:0200055	Small hand	8558	CDK10	OMIM:617694
HP:0200055	Small hand	3481	IGF2	OMIM:616489
HP:0200055	Small hand	8239	USP9X	ORPHA:480880
HP:0200055	Small hand	8239	USP9X	OMIM:300968
HP:0200055	Small hand	9894	TELO2	ORPHA:488642
HP:0200055	Small hand	259232	NALCN	ORPHA:371364
HP:0200055	Small hand	285175	UNC80	ORPHA:371364
HP:0200055	Small hand	7486	WRN	ORPHA:902
HP:0200055	Small hand	6925	TCF4	ORPHA:2896
HP:0200055	Small hand	6925	TCF4	OMIM:610954
HP:0200055	Small hand	23556	PIGN	ORPHA:280633
HP:0200055	Small hand	3800	KIF5C	OMIM:615282
HP:0200055	Small hand	4849	CNOT3	OMIM:618672
HP:0200055	Small hand	81887	LAS1L	ORPHA:3459
HP:0200055	Small hand	25839	COG4	ORPHA:85172
HP:0200055	Small hand	4920	ROR2	OMIM:268310
HP:0200055	Small hand	8813	DPM1	OMIM:608799
HP:0200055	Small hand	23162	MAPK8IP3	OMIM:618443
HP:0200055	Small hand	2332	FMR1	ORPHA:261483
HP:0200055	Small hand	2186	BPTF	OMIM:617755
HP:0200055	Small hand	388662	SLC6A17	OMIM:616269
HP:0200055	Small hand	23219	FBXO28	OMIM:619777
HP:0200055	Small hand	5557	PRIM1	OMIM:620005
HP:0200055	Small hand	147372	CCBE1	OMIM:235510
HP:0200055	Small hand	64131	XYLT1	ORPHA:1425
HP:0200055	Small hand	124583	CANT1	ORPHA:1425
HP:0200055	Small hand	55790	CSGALNACT1	ORPHA:1425
HP:0200055	Small hand	7474	WNT5A	OMIM:180700
HP:0200055	Small hand	1855	DVL1	OMIM:180700
HP:0200055	Small hand	9130	FAM50A	OMIM:300261
HP:0200055	Small hand	1513	CTSK	ORPHA:763
HP:0200055	Small hand	406932	MIR140	OMIM:618618
HP:0200055	Small hand	2245	FGD1	ORPHA:915
HP:0200055	Small hand	25886	POC1A	OMIM:614813
HP:0200055	Small hand	3480	IGF1R	OMIM:270450
HP:0200055	Small hand	1801	DPH1	ORPHA:459061
HP:0200055	Small hand	59341	TRPV4	OMIM:181405
HP:0200055	Small hand	3762	KCNJ5	ORPHA:37553
HP:0200055	Small hand	1281	COL3A1	ORPHA:2500
HP:0200055	Small hand	10075	HUWE1	OMIM:309590
HP:0000433	Abnormal nasal mucosa morphology	56244	BTNL2	ORPHA:797
HP:0000433	Abnormal nasal mucosa morphology	3123	HLA-DRB1	ORPHA:797
HP:0000433	Abnormal nasal mucosa morphology	94	ACVRL1	OMIM:600376
HP:0000433	Abnormal nasal mucosa morphology	2022	ENG	OMIM:187300
HP:0000433	Abnormal nasal mucosa morphology	27019	DNAI1	OMIM:244400
HP:0000433	Abnormal nasal mucosa morphology	27019	DNAI1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	25981	DNAH1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	115948	ODAD3	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	115948	ODAD3	OMIM:616037
HP:0000433	Abnormal nasal mucosa morphology	54768	HYDIN	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	54768	HYDIN	OMIM:608647
HP:0000433	Abnormal nasal mucosa morphology	352909	DNAAF3	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	352909	DNAAF3	OMIM:606763
HP:0000433	Abnormal nasal mucosa morphology	27148	STK36	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	51314	NME8	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	92749	DRC1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	54970	TTC12	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	152110	NEK10	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	8481	OFD1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	2302	FOXJ1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	221421	RSPH9	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	85478	CCDC65	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	55036	CCDC40	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	55036	CCDC40	OMIM:613808
HP:0000433	Abnormal nasal mucosa morphology	51364	ZMYND10	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	51364	ZMYND10	OMIM:615444
HP:0000433	Abnormal nasal mucosa morphology	64446	DNAI2	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	6674	SPAG1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	83544	DNAL1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	89765	RSPH1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	83538	ODAD4	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	83538	ODAD4	OMIM:617092
HP:0000433	Abnormal nasal mucosa morphology	200373	CFAP221	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	374407	DNAJB13	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	55172	DNAAF2	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	161582	DNAAF4	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	2622	GAS8	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	23639	DNAAF11	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	23639	DNAAF11	OMIM:614935
HP:0000433	Abnormal nasal mucosa morphology	345895	RSPH4A	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	54919	DNAAF5	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	6103	RPGR	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	388389	CCDC103	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	93233	ODAD1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	55130	ODAD2	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	1767	DNAH5	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	83861	RSPH3	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	345643	MCIDAS	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	345643	MCIDAS	OMIM:618695
HP:0000433	Abnormal nasal mucosa morphology	56683	CFAP298	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	79925	SPEF2	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	10309	CCNO	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	115399	LRRC56	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	139212	DNAAF6	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	123872	DNAAF1	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	85016	CFAP300	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	339829	CCDC39	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	8701	DNAH11	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	1770	DNAH9	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	246176	GAS2L2	ORPHA:244
HP:0000433	Abnormal nasal mucosa morphology	1893	ECM1	ORPHA:530
HP:0000433	Abnormal nasal mucosa morphology	6804	STX1A	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	2947	GSTM3	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	7040	TGFB1	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	7040	TGFB1	OMIM:219700
HP:0000433	Abnormal nasal mucosa morphology	2729	GCLC	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	1084	CEACAM3	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	6556	SLC11A1	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	51164	DCTN4	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	3783	KCNN4	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	4282	MIF	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	1909	EDNRA	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	6550	SLC9A3	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	3162	HMOX1	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	115019	SLC26A9	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	3077	HFE	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	11254	SLC6A14	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	5265	SERPINA1	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	1080	CFTR	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	1080	CFTR	OMIM:219700
HP:0000433	Abnormal nasal mucosa morphology	22802	CLCA4	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	4680	CEACAM6	ORPHA:586
HP:0000433	Abnormal nasal mucosa morphology	2212	FCGR2A	OMIM:219700
HP:0000433	Abnormal nasal mucosa morphology	30009	TBX21	OMIM:208550
HP:0000433	Abnormal nasal mucosa morphology	5732	PTGER2	OMIM:208550
HP:0000433	Abnormal nasal mucosa morphology	6794	STK11	ORPHA:2869
HP:0000433	Abnormal nasal mucosa morphology	6794	STK11	OMIM:175200
HP:0000433	Abnormal nasal mucosa morphology	6890	TAP1	OMIM:604571
HP:0000433	Abnormal nasal mucosa morphology	6891	TAP2	OMIM:604571
HP:0000433	Abnormal nasal mucosa morphology	6892	TAPBP	OMIM:604571
HP:0000433	Abnormal nasal mucosa morphology	9094	UNC119	OMIM:615518
HP:0000433	Abnormal nasal mucosa morphology	85452	CFAP74	OMIM:620197
HP:0000434	Nasal mucosa telangiectasia	94	ACVRL1	OMIM:600376
HP:0000434	Nasal mucosa telangiectasia	2022	ENG	OMIM:187300
HP:0000436	Abnormal nasal tip morphology	2137	EXTL3	ORPHA:508533
HP:0000436	Abnormal nasal tip morphology	11113	CIT	OMIM:617090
HP:0000436	Abnormal nasal tip morphology	7528	YY1	ORPHA:506358
HP:0000436	Abnormal nasal tip morphology	8450	CUL4B	OMIM:300354
HP:0000436	Abnormal nasal tip morphology	27316	RBMX	OMIM:300238
HP:0000436	Abnormal nasal tip morphology	6309	SC5D	ORPHA:46059
HP:0000436	Abnormal nasal tip morphology	8367	H4C5	OMIM:619950
HP:0000436	Abnormal nasal tip morphology	9853	RUSC2	OMIM:617773
HP:0000436	Abnormal nasal tip morphology	83932	SPRTN	OMIM:616200
HP:0000436	Abnormal nasal tip morphology	26128	KIFBP	OMIM:609460
HP:0000436	Abnormal nasal tip morphology	9820	CUL7	ORPHA:2616
HP:0000436	Abnormal nasal tip morphology	673	BRAF	OMIM:115150
HP:0000436	Abnormal nasal tip morphology	55627	SMPD4	OMIM:618622
HP:0000436	Abnormal nasal tip morphology	8854	ALDH1A2	OMIM:620025
HP:0000436	Abnormal nasal tip morphology	5457	POU4F1	ORPHA:314647
HP:0000436	Abnormal nasal tip morphology	23261	CAMTA1	ORPHA:314647
HP:0000436	Abnormal nasal tip morphology	23261	CAMTA1	OMIM:614756
HP:0000436	Abnormal nasal tip morphology	5447	POR	ORPHA:95699
HP:0000436	Abnormal nasal tip morphology	116931	MED12L	OMIM:618872
HP:0000436	Abnormal nasal tip morphology	1278	COL1A2	ORPHA:230851
HP:0000436	Abnormal nasal tip morphology	10300	KATNB1	OMIM:616212
HP:0000436	Abnormal nasal tip morphology	10084	PQBP1	ORPHA:93945
HP:0000436	Abnormal nasal tip morphology	10084	PQBP1	ORPHA:93946
HP:0000436	Abnormal nasal tip morphology	10084	PQBP1	OMIM:309500
HP:0000436	Abnormal nasal tip morphology	4010	LMX1B	ORPHA:495818
HP:0000436	Abnormal nasal tip morphology	6812	STXBP1	ORPHA:495818
HP:0000436	Abnormal nasal tip morphology	55690	PACS1	OMIM:615009
HP:0000436	Abnormal nasal tip morphology	55690	PACS1	ORPHA:329224
HP:0000436	Abnormal nasal tip morphology	23431	AP4E1	OMIM:613744
HP:0000436	Abnormal nasal tip morphology	23431	AP4E1	ORPHA:280763
HP:0000436	Abnormal nasal tip morphology	10978	CLP1	OMIM:615803
HP:0000436	Abnormal nasal tip morphology	284403	WDR62	OMIM:604317
HP:0000436	Abnormal nasal tip morphology	56992	KIF15	ORPHA:261323
HP:0000436	Abnormal nasal tip morphology	56992	KIF15	OMIM:619981
HP:0000436	Abnormal nasal tip morphology	84992	PIGY	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	84720	PIGO	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	93210	PGAP3	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	284098	PIGW	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	27315	PGAP2	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	55650	PIGV	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	9487	PIGL	ORPHA:247262
HP:0000436	Abnormal nasal tip morphology	284058	KANSL1	ORPHA:363958
HP:0000436	Abnormal nasal tip morphology	284058	KANSL1	ORPHA:363965
HP:0000436	Abnormal nasal tip morphology	284058	KANSL1	OMIM:610443
HP:0000436	Abnormal nasal tip morphology	3899	AFF3	OMIM:619297
HP:0000436	Abnormal nasal tip morphology	1889	ECE1	OMIM:613870
HP:0000436	Abnormal nasal tip morphology	23184	MESD	OMIM:618644
HP:0000436	Abnormal nasal tip morphology	55681	SCYL2	OMIM:618766
HP:0000436	Abnormal nasal tip morphology	93627	TBCK	OMIM:616900
HP:0000436	Abnormal nasal tip morphology	93627	TBCK	ORPHA:488632
HP:0000436	Abnormal nasal tip morphology	2200	FBN1	ORPHA:969
HP:0000436	Abnormal nasal tip morphology	2200	FBN1	OMIM:102370
HP:0000436	Abnormal nasal tip morphology	4054	LTBP3	ORPHA:969
HP:0000436	Abnormal nasal tip morphology	4054	LTBP3	OMIM:617809
HP:0000436	Abnormal nasal tip morphology	1193	CLIC2	ORPHA:324410
HP:0000436	Abnormal nasal tip morphology	57231	SNX14	OMIM:616354
HP:0000436	Abnormal nasal tip morphology	23036	ZNF292	OMIM:619188
HP:0000436	Abnormal nasal tip morphology	23314	SATB2	OMIM:612313
HP:0000436	Abnormal nasal tip morphology	6602	SMARCD1	OMIM:618779
HP:0000436	Abnormal nasal tip morphology	526	ATP6V1B2	ORPHA:3473
HP:0000436	Abnormal nasal tip morphology	526	ATP6V1B2	ORPHA:79500
HP:0000436	Abnormal nasal tip morphology	3756	KCNH1	ORPHA:3473
HP:0000436	Abnormal nasal tip morphology	3782	KCNN3	ORPHA:3473
HP:0000436	Abnormal nasal tip morphology	1182	CLCN3	OMIM:619512
HP:0000436	Abnormal nasal tip morphology	10717	AP4B1	OMIM:614066
HP:0000436	Abnormal nasal tip morphology	10717	AP4B1	ORPHA:280763
HP:0000436	Abnormal nasal tip morphology	11154	AP4S1	OMIM:614067
HP:0000436	Abnormal nasal tip morphology	11154	AP4S1	ORPHA:280763
HP:0000436	Abnormal nasal tip morphology	55773	TBC1D23	OMIM:617695
HP:0000436	Abnormal nasal tip morphology	23461	ABCA5	OMIM:135400
HP:0000436	Abnormal nasal tip morphology	6660	SOX5	OMIM:616803
HP:0000436	Abnormal nasal tip morphology	285175	UNC80	OMIM:616801
HP:0000436	Abnormal nasal tip morphology	79753	SNIP1	OMIM:614501
HP:0000436	Abnormal nasal tip morphology	3098	HK1	OMIM:618547
HP:0000436	Abnormal nasal tip morphology	55165	CEP55	OMIM:236500
HP:0000436	Abnormal nasal tip morphology	23137	SMC5	OMIM:620185
HP:0000436	Abnormal nasal tip morphology	55343	SLC35C1	OMIM:266265
HP:0000436	Abnormal nasal tip morphology	7750	ZMYM2	OMIM:619522
HP:0000436	Abnormal nasal tip morphology	6942	TCF20	OMIM:618430
HP:0000436	Abnormal nasal tip morphology	92002	CCNQ	ORPHA:140952
HP:0000436	Abnormal nasal tip morphology	4285	MIPEP	OMIM:617228
HP:0000436	Abnormal nasal tip morphology	182	JAG1	OMIM:118450
HP:0000436	Abnormal nasal tip morphology	9993	DGCR2	OMIM:192430
HP:0000436	Abnormal nasal tip morphology	8220	ESS2	OMIM:192430
HP:0000436	Abnormal nasal tip morphology	8214	DGCR6	OMIM:192430
HP:0000436	Abnormal nasal tip morphology	54487	DGCR8	OMIM:192430
HP:0000436	Abnormal nasal tip morphology	6899	TBX1	OMIM:192430
HP:0000436	Abnormal nasal tip morphology	6899	TBX1	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	51322	WAC	ORPHA:284169
HP:0000436	Abnormal nasal tip morphology	51322	WAC	OMIM:616708
HP:0000436	Abnormal nasal tip morphology	51322	WAC	ORPHA:466950
HP:0000436	Abnormal nasal tip morphology	9968	MED12	OMIM:300895
HP:0000436	Abnormal nasal tip morphology	9968	MED12	ORPHA:293707
HP:0000436	Abnormal nasal tip morphology	6611	SMS	OMIM:309583
HP:0000436	Abnormal nasal tip morphology	6611	SMS	ORPHA:3063
HP:0000436	Abnormal nasal tip morphology	79791	FBXO31	OMIM:615979
HP:0000436	Abnormal nasal tip morphology	85440	DOCK7	OMIM:615859
HP:0000436	Abnormal nasal tip morphology	85440	DOCK7	ORPHA:411986
HP:0000436	Abnormal nasal tip morphology	4313	MMP2	OMIM:259600
HP:0000436	Abnormal nasal tip morphology	10195	ALG3	OMIM:601110
HP:0000436	Abnormal nasal tip morphology	6595	SMARCA2	OMIM:601358
HP:0000436	Abnormal nasal tip morphology	8295	TRRAP	OMIM:618454
HP:0000436	Abnormal nasal tip morphology	81570	CLPB	OMIM:616271
HP:0000436	Abnormal nasal tip morphology	8621	CDK13	OMIM:617360
HP:0000436	Abnormal nasal tip morphology	26173	INTS1	OMIM:618571
HP:0000436	Abnormal nasal tip morphology	9427	ECEL1	OMIM:615065
HP:0000436	Abnormal nasal tip morphology	1523	CUX1	OMIM:618330
HP:0000436	Abnormal nasal tip morphology	2702	GJA5	OMIM:612474
HP:0000436	Abnormal nasal tip morphology	2703	GJA8	OMIM:612474
HP:0000436	Abnormal nasal tip morphology	3720	JARID2	OMIM:620098
HP:0000436	Abnormal nasal tip morphology	80816	ASXL3	ORPHA:352577
HP:0000436	Abnormal nasal tip morphology	7227	TRPS1	ORPHA:77258
HP:0000436	Abnormal nasal tip morphology	7227	TRPS1	ORPHA:502
HP:0000436	Abnormal nasal tip morphology	10075	HUWE1	OMIM:309590
HP:0000436	Abnormal nasal tip morphology	10765	KDM5B	OMIM:618109
HP:0000436	Abnormal nasal tip morphology	117581	TWIST2	OMIM:227260
HP:0000436	Abnormal nasal tip morphology	117581	TWIST2	ORPHA:1231
HP:0000436	Abnormal nasal tip morphology	117581	TWIST2	OMIM:209885
HP:0000436	Abnormal nasal tip morphology	2290	FOXG1	OMIM:613454
HP:0000436	Abnormal nasal tip morphology	2290	FOXG1	ORPHA:261144
HP:0000436	Abnormal nasal tip morphology	85358	SHANK3	OMIM:606232
HP:0000436	Abnormal nasal tip morphology	85358	SHANK3	ORPHA:48652
HP:0000436	Abnormal nasal tip morphology	1302	COL11A2	OMIM:215150
HP:0000436	Abnormal nasal tip morphology	51412	ACTL6B	OMIM:618470
HP:0000436	Abnormal nasal tip morphology	57465	TBC1D24	OMIM:220500
HP:0000436	Abnormal nasal tip morphology	57465	TBC1D24	ORPHA:79500
HP:0000436	Abnormal nasal tip morphology	10847	SRCAP	OMIM:136140
HP:0000436	Abnormal nasal tip morphology	1436	CSF1R	OMIM:618476
HP:0000436	Abnormal nasal tip morphology	57520	HECW2	OMIM:617268
HP:0000436	Abnormal nasal tip morphology	55209	SETD5	OMIM:615761
HP:0000436	Abnormal nasal tip morphology	23030	KDM4B	OMIM:619320
HP:0000436	Abnormal nasal tip morphology	6492	SIM1	ORPHA:171829
HP:0000436	Abnormal nasal tip morphology	473	RERE	OMIM:616975
HP:0000436	Abnormal nasal tip morphology	4953	ODC1	ORPHA:544488
HP:0000436	Abnormal nasal tip morphology	998	CDC42	OMIM:616737
HP:0000436	Abnormal nasal tip morphology	998	CDC42	ORPHA:487796
HP:0000436	Abnormal nasal tip morphology	30008	EFEMP2	OMIM:614437
HP:0000436	Abnormal nasal tip morphology	23097	CDK19	OMIM:618916
HP:0000436	Abnormal nasal tip morphology	9179	AP4M1	OMIM:612936
HP:0000436	Abnormal nasal tip morphology	9179	AP4M1	ORPHA:280763
HP:0000436	Abnormal nasal tip morphology	9126	SMC3	OMIM:610759
HP:0000436	Abnormal nasal tip morphology	79840	NHEJ1	ORPHA:169079
HP:0000436	Abnormal nasal tip morphology	26224	FBXL3	OMIM:606220
HP:0000436	Abnormal nasal tip morphology	55777	MBD5	OMIM:156200
HP:0000436	Abnormal nasal tip morphology	10735	STAG2	OMIM:301022
HP:0000436	Abnormal nasal tip morphology	11253	MAN1B1	OMIM:614202
HP:0000436	Abnormal nasal tip morphology	5831	PYCR1	OMIM:612940
HP:0000436	Abnormal nasal tip morphology	91137	SLC25A46	OMIM:616505
HP:0000436	Abnormal nasal tip morphology	29920	PYCR2	ORPHA:481152
HP:0000436	Abnormal nasal tip morphology	29920	PYCR2	OMIM:616420
HP:0000436	Abnormal nasal tip morphology	3759	KCNJ2	OMIM:170390
HP:0000436	Abnormal nasal tip morphology	3759	KCNJ2	ORPHA:37553
HP:0000436	Abnormal nasal tip morphology	23389	MED13L	ORPHA:369891
HP:0000436	Abnormal nasal tip morphology	23389	MED13L	OMIM:616789
HP:0000436	Abnormal nasal tip morphology	1312	COMT	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	221037	JMJD1C	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	2812	GP1BB	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	6239	RREB1	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	7290	HIRA	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	9632	SEC24C	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	7353	UFD1	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	421	ARVCF	ORPHA:567
HP:0000436	Abnormal nasal tip morphology	1009	CDH11	OMIM:211380
HP:0000436	Abnormal nasal tip morphology	1781	DYNC1I2	OMIM:618492
HP:0000436	Abnormal nasal tip morphology	9496	TBX4	ORPHA:261279
HP:0000436	Abnormal nasal tip morphology	10524	KAT5	OMIM:619103
HP:0000436	Abnormal nasal tip morphology	9757	KMT2B	OMIM:617284
HP:0000436	Abnormal nasal tip morphology	9757	KMT2B	ORPHA:589618
HP:0000436	Abnormal nasal tip morphology	9757	KMT2B	OMIM:619934
HP:0000436	Abnormal nasal tip morphology	22808	MRAS	OMIM:618499
HP:0000436	Abnormal nasal tip morphology	23522	KAT6B	OMIM:603736
HP:0000436	Abnormal nasal tip morphology	23522	KAT6B	ORPHA:3047
HP:0000436	Abnormal nasal tip morphology	1822	ATN1	OMIM:618494
HP:0000436	Abnormal nasal tip morphology	79644	SRD5A3	OMIM:612713
HP:0000436	Abnormal nasal tip morphology	57572	DOCK6	OMIM:614219
HP:0000436	Abnormal nasal tip morphology	158326	FREM1	OMIM:608980
HP:0000436	Abnormal nasal tip morphology	57003	CCDC47	OMIM:618268
HP:0000436	Abnormal nasal tip morphology	26005	C2CD3	ORPHA:434179
HP:0000436	Abnormal nasal tip morphology	10815	CPLX1	OMIM:617976
HP:0000436	Abnormal nasal tip morphology	1859	DYRK1A	OMIM:614104
HP:0000436	Abnormal nasal tip morphology	4329	ALDH6A1	OMIM:614105
HP:0000436	Abnormal nasal tip morphology	80036	TRPM3	OMIM:620224
HP:0000436	Abnormal nasal tip morphology	8405	SPOP	OMIM:618828
HP:0000436	Abnormal nasal tip morphology	8405	SPOP	OMIM:618829
HP:0000436	Abnormal nasal tip morphology	4796	TONSL	OMIM:271510
HP:0000436	Abnormal nasal tip morphology	2131	EXT1	ORPHA:502
HP:0000436	Abnormal nasal tip morphology	80781	COL18A1	OMIM:267750
HP:0000436	Abnormal nasal tip morphology	10682	EBP	OMIM:300960
HP:0000436	Abnormal nasal tip morphology	7204	TRIO	OMIM:617061
HP:0000436	Abnormal nasal tip morphology	8239	USP9X	OMIM:300968
HP:0000436	Abnormal nasal tip morphology	10651	MTX2	OMIM:619127
HP:0000436	Abnormal nasal tip morphology	54870	QRICH1	OMIM:617982
HP:0000436	Abnormal nasal tip morphology	9702	CEP57	OMIM:614114
HP:0000436	Abnormal nasal tip morphology	1654	DDX3X	OMIM:300958
HP:0000436	Abnormal nasal tip morphology	50485	SMARCAL1	OMIM:242900
HP:0000436	Abnormal nasal tip morphology	118924	FRA10AC1	OMIM:620113
HP:0000436	Abnormal nasal tip morphology	1376	CPT2	OMIM:608836
HP:0000436	Abnormal nasal tip morphology	80267	EDEM3	OMIM:619493
HP:0000436	Abnormal nasal tip morphology	2332	FMR1	ORPHA:261483
HP:0000436	Abnormal nasal tip morphology	1984	EIF5A	OMIM:619376
HP:0000436	Abnormal nasal tip morphology	1748	DLX4	OMIM:616788
HP:0000436	Abnormal nasal tip morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000436	Abnormal nasal tip morphology	54187	NANS	OMIM:610442
HP:0000436	Abnormal nasal tip morphology	84700	MYO18B	OMIM:616549
HP:0000436	Abnormal nasal tip morphology	8777	MPDZ	OMIM:615219
HP:0000436	Abnormal nasal tip morphology	84464	SLX4	OMIM:613951
HP:0000436	Abnormal nasal tip morphology	79583	TMEM231	ORPHA:2752
HP:0000436	Abnormal nasal tip morphology	55181	SMG8	OMIM:619268
HP:0000436	Abnormal nasal tip morphology	10844	TUBGCP2	OMIM:618737
HP:0000436	Abnormal nasal tip morphology	523	ATP6V1A	OMIM:617403
HP:0000436	Abnormal nasal tip morphology	3762	KCNJ5	ORPHA:37553
HP:0000436	Abnormal nasal tip morphology	6909	TBX2	OMIM:618223
HP:0000436	Abnormal nasal tip morphology	55120	FANCL	OMIM:614083
HP:0000436	Abnormal nasal tip morphology	4593	MUSK	OMIM:208150
HP:0000436	Abnormal nasal tip morphology	23126	POGZ	OMIM:616364
HP:0000436	Abnormal nasal tip morphology	60529	ALX4	OMIM:613451
HP:0000436	Abnormal nasal tip morphology	60529	ALX4	ORPHA:52022
HP:0000436	Abnormal nasal tip morphology	8260	NAA10	OMIM:300855
HP:0000436	Abnormal nasal tip morphology	6711	SPTBN1	OMIM:619475
HP:0000436	Abnormal nasal tip morphology	2316	FLNA	ORPHA:88630
HP:0000436	Abnormal nasal tip morphology	2316	FLNA	OMIM:300244
HP:0000436	Abnormal nasal tip morphology	5557	PRIM1	OMIM:620005
HP:0000436	Abnormal nasal tip morphology	8626	TP63	OMIM:604292
HP:0000436	Abnormal nasal tip morphology	71	ACTG1	ORPHA:2995
HP:0000436	Abnormal nasal tip morphology	60	ACTB	ORPHA:2995
HP:0000436	Abnormal nasal tip morphology	2132	EXT2	ORPHA:52022
HP:0000436	Abnormal nasal tip morphology	51317	PHF21A	ORPHA:52022
HP:0000436	Abnormal nasal tip morphology	5727	PTCH1	OMIM:610828
HP:0000436	Abnormal nasal tip morphology	7050	TGIF1	OMIM:142946
HP:0000436	Abnormal nasal tip morphology	9839	ZEB2	ORPHA:261537
HP:0000436	Abnormal nasal tip morphology	9839	ZEB2	ORPHA:261552
HP:0000436	Abnormal nasal tip morphology	78989	COLEC11	OMIM:265050
HP:0000436	Abnormal nasal tip morphology	6872	TAF1	OMIM:300966
HP:0000436	Abnormal nasal tip morphology	1968	EIF2S3	OMIM:300148
HP:0000436	Abnormal nasal tip morphology	7403	KDM6A	OMIM:300867
HP:0000436	Abnormal nasal tip morphology	7403	KDM6A	OMIM:147920
HP:0000436	Abnormal nasal tip morphology	4613	MYCN	OMIM:164280
HP:0000436	Abnormal nasal tip morphology	22858	CILK1	OMIM:612651
HP:0000436	Abnormal nasal tip morphology	55770	EXOC2	OMIM:619306
HP:0000436	Abnormal nasal tip morphology	57724	EPG5	ORPHA:1493
HP:0000436	Abnormal nasal tip morphology	4297	KMT2A	OMIM:605130
HP:0000436	Abnormal nasal tip morphology	8085	KMT2D	OMIM:147920
HP:0000436	Abnormal nasal tip morphology	546	ATRX	OMIM:309580
HP:0000436	Abnormal nasal tip morphology	6925	TCF4	ORPHA:2896
HP:0000436	Abnormal nasal tip morphology	3480	IGF1R	ORPHA:73273
HP:0000436	Abnormal nasal tip morphology	9131	AIFM1	OMIM:300232
HP:0000436	Abnormal nasal tip morphology	57459	GATAD2B	OMIM:615074
HP:0000436	Abnormal nasal tip morphology	57459	GATAD2B	ORPHA:363686
HP:0000436	Abnormal nasal tip morphology	1499	CTNNB1	OMIM:615075
HP:0000436	Abnormal nasal tip morphology	1499	CTNNB1	ORPHA:404473
HP:0000436	Abnormal nasal tip morphology	324	APC	ORPHA:261584
HP:0000436	Abnormal nasal tip morphology	23394	ADNP	OMIM:615873
HP:0000436	Abnormal nasal tip morphology	8573	CASK	OMIM:300749
HP:0000436	Abnormal nasal tip morphology	84282	RNF135	ORPHA:137634
HP:0000436	Abnormal nasal tip morphology	11133	KPTN	OMIM:615637
HP:0000436	Abnormal nasal tip morphology	6418	SET	OMIM:618106
HP:0000436	Abnormal nasal tip morphology	7021	TFAP2B	OMIM:169100
HP:0000436	Abnormal nasal tip morphology	10060	ABCC9	OMIM:619719
HP:0000436	Abnormal nasal tip morphology	3190	HNRNPK	ORPHA:453504
HP:0000436	Abnormal nasal tip morphology	3190	HNRNPK	ORPHA:352665
HP:0000436	Abnormal nasal tip morphology	5575	PRKAR1B	OMIM:619680
HP:0000436	Abnormal nasal tip morphology	55869	HDAC8	OMIM:300882
HP:0000436	Abnormal nasal tip morphology	55869	HDAC8	ORPHA:3459
HP:0000436	Abnormal nasal tip morphology	5515	PPP2CA	OMIM:618354
HP:0000436	Abnormal nasal tip morphology	57511	COG6	ORPHA:363523
HP:0000436	Abnormal nasal tip morphology	9578	CDC42BPB	OMIM:619841
HP:0000436	Abnormal nasal tip morphology	55784	MCTP2	ORPHA:1596
HP:0000436	Abnormal nasal tip morphology	112939	NACC1	ORPHA:500545
HP:0000436	Abnormal nasal tip morphology	112939	NACC1	OMIM:617393
HP:0000436	Abnormal nasal tip morphology	5915	RARB	OMIM:615524
HP:0000436	Abnormal nasal tip morphology	25782	RAB3GAP2	OMIM:212720
HP:0000436	Abnormal nasal tip morphology	29072	SETD2	OMIM:620157
HP:0000436	Abnormal nasal tip morphology	29072	SETD2	OMIM:620155
HP:0000436	Abnormal nasal tip morphology	2720	GLB1	ORPHA:79255
HP:0000436	Abnormal nasal tip morphology	23221	RHOBTB2	OMIM:618004
HP:0000436	Abnormal nasal tip morphology	57492	ARID1B	OMIM:135900
HP:0000436	Abnormal nasal tip morphology	57492	ARID1B	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	64324	NSD1	OMIM:117550
HP:0000436	Abnormal nasal tip morphology	4052	LTBP1	OMIM:619451
HP:0000436	Abnormal nasal tip morphology	54496	PRMT7	OMIM:617157
HP:0000436	Abnormal nasal tip morphology	6597	SMARCA4	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	6598	SMARCB1	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	6659	SOX4	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	8289	ARID1A	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	5977	DPF2	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	6601	SMARCC2	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	196528	ARID2	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	196528	ARID2	OMIM:617808
HP:0000436	Abnormal nasal tip morphology	6605	SMARCE1	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	6664	SOX11	ORPHA:1465
HP:0000436	Abnormal nasal tip morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000436	Abnormal nasal tip morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000436	Abnormal nasal tip morphology	64359	NXN	OMIM:618529
HP:0000436	Abnormal nasal tip morphology	7994	KAT6A	ORPHA:457193
HP:0000436	Abnormal nasal tip morphology	7994	KAT6A	OMIM:616268
HP:0000436	Abnormal nasal tip morphology	114034	TOE1	OMIM:614969
HP:0000436	Abnormal nasal tip morphology	23325	WASHC4	OMIM:615817
HP:0000436	Abnormal nasal tip morphology	22827	PUF60	ORPHA:508488
HP:0000436	Abnormal nasal tip morphology	22827	PUF60	OMIM:615583
HP:0000436	Abnormal nasal tip morphology	7020	TFAP2A	OMIM:113620
HP:0000436	Abnormal nasal tip morphology	7020	TFAP2A	ORPHA:1297
HP:0000436	Abnormal nasal tip morphology	51305	KCNK9	ORPHA:166108
HP:0000436	Abnormal nasal tip morphology	5813	PURA	ORPHA:438216
HP:0000436	Abnormal nasal tip morphology	5573	PRKAR1A	OMIM:101800
HP:0000436	Abnormal nasal tip morphology	6638	SNRPN	ORPHA:177907
HP:0000436	Abnormal nasal tip morphology	3425	IDUA	OMIM:607014
HP:0000436	Abnormal nasal tip morphology	26040	SETBP1	ORPHA:798
HP:0000436	Abnormal nasal tip morphology	9653	HS2ST1	OMIM:619194
HP:0000436	Abnormal nasal tip morphology	64840	PORCN	OMIM:305600
HP:0000436	Abnormal nasal tip morphology	253738	EBF3	OMIM:617330
HP:0000436	Abnormal nasal tip morphology	10664	CTCF	ORPHA:363611
HP:0000436	Abnormal nasal tip morphology	8812	CCNK	OMIM:618147
HP:0000436	Abnormal nasal tip morphology	56006	SMG9	OMIM:619995
HP:0000436	Abnormal nasal tip morphology	65250	CPLANE1	OMIM:277170
HP:0000436	Abnormal nasal tip morphology	65250	CPLANE1	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	5792	PTPRF	OMIM:616001
HP:0000436	Abnormal nasal tip morphology	8558	CDK10	OMIM:617694
HP:0000436	Abnormal nasal tip morphology	9091	PIGQ	OMIM:618548
HP:0000436	Abnormal nasal tip morphology	8364	H4C3	OMIM:619758
HP:0000436	Abnormal nasal tip morphology	5293	PIK3CD	ORPHA:221139
HP:0000436	Abnormal nasal tip morphology	90417	KNSTRN	ORPHA:221139
HP:0000436	Abnormal nasal tip morphology	415	ARSL	ORPHA:79345
HP:0000436	Abnormal nasal tip morphology	11198	SUPT16H	OMIM:619480
HP:0000436	Abnormal nasal tip morphology	4036	LRP2	OMIM:222448
HP:0000436	Abnormal nasal tip morphology	79718	TBL1XR1	OMIM:602342
HP:0000436	Abnormal nasal tip morphology	26137	ZBTB20	OMIM:259050
HP:0000436	Abnormal nasal tip morphology	4893	NRAS	OMIM:137550
HP:0000436	Abnormal nasal tip morphology	3265	HRAS	OMIM:137550
HP:0000436	Abnormal nasal tip morphology	54880	BCOR	OMIM:300166
HP:0000436	Abnormal nasal tip morphology	285590	SH3PXD2B	OMIM:249420
HP:0000436	Abnormal nasal tip morphology	8733	GPAA1	ORPHA:529665
HP:0000436	Abnormal nasal tip morphology	27086	FOXP1	ORPHA:391372
HP:0000436	Abnormal nasal tip morphology	27086	FOXP1	OMIM:613670
HP:0000436	Abnormal nasal tip morphology	6197	RPS6KA3	OMIM:300844
HP:0000436	Abnormal nasal tip morphology	81887	LAS1L	ORPHA:3459
HP:0000436	Abnormal nasal tip morphology	7291	TWIST1	OMIM:617746
HP:0000436	Abnormal nasal tip morphology	51085	MLXIPL	OMIM:194050
HP:0000436	Abnormal nasal tip morphology	2006	ELN	OMIM:194050
HP:0000436	Abnormal nasal tip morphology	57688	ZSWIM6	OMIM:603671
HP:0000436	Abnormal nasal tip morphology	57688	ZSWIM6	ORPHA:1827
HP:0000436	Abnormal nasal tip morphology	9759	HDAC4	OMIM:600430
HP:0000436	Abnormal nasal tip morphology	55252	ASXL2	OMIM:617190
HP:0000436	Abnormal nasal tip morphology	529	ATP6V1E1	ORPHA:357074
HP:0000436	Abnormal nasal tip morphology	529	ATP6V1E1	OMIM:617402
HP:0000436	Abnormal nasal tip morphology	7518	XRCC4	OMIM:616541
HP:0000436	Abnormal nasal tip morphology	178	AGL	OMIM:232400
HP:0000436	Abnormal nasal tip morphology	51780	KDM3B	OMIM:618846
HP:0000436	Abnormal nasal tip morphology	2186	BPTF	OMIM:617755
HP:0000436	Abnormal nasal tip morphology	23133	PHF8	ORPHA:85287
HP:0000436	Abnormal nasal tip morphology	23133	PHF8	OMIM:300263
HP:0000436	Abnormal nasal tip morphology	23219	FBXO28	OMIM:619777
HP:0000436	Abnormal nasal tip morphology	170692	ADAMTS18	OMIM:615458
HP:0000436	Abnormal nasal tip morphology	2317	FLNB	OMIM:272460
HP:0000436	Abnormal nasal tip morphology	10210	TOPORS	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	9851	KIAA0753	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	26123	TCTN3	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	5147	PDE6D	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	51259	TMEM216	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	8481	OFD1	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	317662	FAM149B1	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	374654	KIF7	ORPHA:2754
HP:0000436	Abnormal nasal tip morphology	11011	TLK2	OMIM:618050
HP:0000436	Abnormal nasal tip morphology	257	ALX3	OMIM:136760
HP:0000436	Abnormal nasal tip morphology	55023	PHIP	ORPHA:589905
HP:0000436	Abnormal nasal tip morphology	6261	RYR1	OMIM:619542
HP:0000436	Abnormal nasal tip morphology	23404	EXOSC2	OMIM:617763
HP:0000436	Abnormal nasal tip morphology	3832	KIF11	OMIM:152950
HP:0000436	Abnormal nasal tip morphology	22930	RAB3GAP1	OMIM:619420
HP:0000436	Abnormal nasal tip morphology	10736	SIX2	ORPHA:488437
HP:0000436	Abnormal nasal tip morphology	25886	POC1A	OMIM:614813
HP:0000436	Abnormal nasal tip morphology	389827	MYMK	OMIM:254940
HP:0000436	Abnormal nasal tip morphology	2535	FZD2	OMIM:164745
HP:0000436	Abnormal nasal tip morphology	55835	CENPJ	OMIM:608393
HP:0000436	Abnormal nasal tip morphology	79005	SCNM1	OMIM:620107
HP:0000436	Abnormal nasal tip morphology	9758	FRMPD4	OMIM:300983
HP:0000436	Abnormal nasal tip morphology	3313	HSPA9	OMIM:616854
HP:0000436	Abnormal nasal tip morphology	3763	KCNJ6	ORPHA:435628
HP:0000436	Abnormal nasal tip morphology	23013	SPEN	OMIM:619312
HP:0000436	Abnormal nasal tip morphology	26038	CHD5	OMIM:619873
HP:0000436	Abnormal nasal tip morphology	1139	CHRNA7	ORPHA:199318
HP:0000436	Abnormal nasal tip morphology	5530	PPP3CA	OMIM:617711
HP:0000436	Abnormal nasal tip morphology	26053	AUTS2	OMIM:615834
HP:0000436	Abnormal nasal tip morphology	26053	AUTS2	ORPHA:352490
HP:0000436	Abnormal nasal tip morphology	81857	MED25	ORPHA:464738
HP:0000436	Abnormal nasal tip morphology	201163	FLCN	OMIM:610883
HP:0000436	Abnormal nasal tip morphology	83987	CCDC8	OMIM:614205
HP:0000436	Abnormal nasal tip morphology	23363	OBSL1	OMIM:612921
HP:0000436	Abnormal nasal tip morphology	283209	PGM2L1	OMIM:620191
HP:0000436	Abnormal nasal tip morphology	7703	PCGF2	OMIM:618371
HP:0000436	Abnormal nasal tip morphology	80232	WDR26	ORPHA:513456
HP:0000436	Abnormal nasal tip morphology	8567	MADD	OMIM:619004
HP:0000436	Abnormal nasal tip morphology	6857	SYT1	ORPHA:522077
HP:0000436	Abnormal nasal tip morphology	6857	SYT1	OMIM:618218
HP:0000436	Abnormal nasal tip morphology	29998	BICRA	OMIM:619325
HP:0000436	Abnormal nasal tip morphology	5567	PRKACB	OMIM:619143
HP:0000436	Abnormal nasal tip morphology	53335	BCL11A	OMIM:617101
HP:0000436	Abnormal nasal tip morphology	55790	CSGALNACT1	OMIM:618870
HP:0000436	Abnormal nasal tip morphology	5144	PDE4D	ORPHA:439822
HP:0000436	Abnormal nasal tip morphology	1806	DPYD	ORPHA:1675
HP:0000436	Abnormal nasal tip morphology	1947	EFNB1	OMIM:304110
HP:0000436	Abnormal nasal tip morphology	6885	MAP3K7	OMIM:157800
HP:0000436	Abnormal nasal tip morphology	4000	LMNA	ORPHA:740
HP:0000436	Abnormal nasal tip morphology	10269	ZMPSTE24	ORPHA:740
HP:0000436	Abnormal nasal tip morphology	23028	KDM1A	ORPHA:477993
HP:0000436	Abnormal nasal tip morphology	8550	MAPKAPK5	OMIM:619869
HP:0000436	Abnormal nasal tip morphology	25839	COG4	ORPHA:85172
HP:0000436	Abnormal nasal tip morphology	25942	SIN3A	OMIM:613406
HP:0000436	Abnormal nasal tip morphology	29081	METTL5	OMIM:618665
HP:0000436	Abnormal nasal tip morphology	5566	PRKACA	OMIM:619142
HP:0000436	Abnormal nasal tip morphology	7043	TGFB3	OMIM:615582
HP:0000445	Wide nose	388015	RTL1	ORPHA:254531
HP:0000445	Wide nose	388015	RTL1	ORPHA:96184
HP:0000445	Wide nose	388015	RTL1	ORPHA:96334
HP:0000445	Wide nose	8788	DLK1	ORPHA:254531
HP:0000445	Wide nose	8788	DLK1	ORPHA:96184
HP:0000445	Wide nose	8788	DLK1	ORPHA:96334
HP:0000445	Wide nose	55384	MEG3	ORPHA:254531
HP:0000445	Wide nose	55384	MEG3	ORPHA:96184
HP:0000445	Wide nose	55384	MEG3	ORPHA:96334
HP:0000445	Wide nose	91949	COG7	OMIM:608779
HP:0000445	Wide nose	51574	LARP7	OMIM:615071
HP:0000445	Wide nose	51574	LARP7	ORPHA:319671
HP:0000445	Wide nose	11253	MAN1B1	ORPHA:397941
HP:0000445	Wide nose	11253	MAN1B1	OMIM:614202
HP:0000445	Wide nose	10617	STAMBP	OMIM:614261
HP:0000445	Wide nose	23314	SATB2	ORPHA:251028
HP:0000445	Wide nose	5396	PRRX1	OMIM:202650
HP:0000445	Wide nose	95	ACY1	ORPHA:137754
HP:0000445	Wide nose	5457	POU4F1	ORPHA:314647
HP:0000445	Wide nose	23261	CAMTA1	ORPHA:314647
HP:0000445	Wide nose	80144	FRAS1	OMIM:219000
HP:0000445	Wide nose	10743	RAI1	ORPHA:477817
HP:0000445	Wide nose	55112	DYNC2I1	ORPHA:93271
HP:0000445	Wide nose	57560	IFT80	ORPHA:93271
HP:0000445	Wide nose	57539	WDR35	ORPHA:93271
HP:0000445	Wide nose	79659	DYNC2H1	ORPHA:93271
HP:0000445	Wide nose	89891	DYNC2I2	ORPHA:93271
HP:0000445	Wide nose	5649	RELN	ORPHA:89844
HP:0000445	Wide nose	10300	KATNB1	ORPHA:89844
HP:0000445	Wide nose	54820	NDE1	ORPHA:89844
HP:0000445	Wide nose	23426	GRIP1	OMIM:617667
HP:0000445	Wide nose	4010	LMX1B	ORPHA:495818
HP:0000445	Wide nose	6812	STXBP1	ORPHA:495818
HP:0000445	Wide nose	341640	FREM2	OMIM:617666
HP:0000445	Wide nose	65082	VPS33A	OMIM:617303
HP:0000445	Wide nose	150468	CKAP2L	ORPHA:3255
HP:0000445	Wide nose	4297	KMT2A	OMIM:605130
HP:0000445	Wide nose	6595	SMARCA2	OMIM:619293
HP:0000445	Wide nose	6197	RPS6KA3	OMIM:303600
HP:0000445	Wide nose	6197	RPS6KA3	ORPHA:276630
HP:0000445	Wide nose	6197	RPS6KA3	ORPHA:192
HP:0000445	Wide nose	2239	GPC4	OMIM:301026
HP:0000445	Wide nose	10484	SEC23A	ORPHA:50814
HP:0000445	Wide nose	9739	SETD1A	OMIM:619056
HP:0000445	Wide nose	92255	LMBRD2	OMIM:619694
HP:0000445	Wide nose	23522	KAT6B	OMIM:606170
HP:0000445	Wide nose	23522	KAT6B	ORPHA:85201
HP:0000445	Wide nose	4853	NOTCH2	OMIM:102500
HP:0000445	Wide nose	4853	NOTCH2	ORPHA:955
HP:0000445	Wide nose	3423	IDS	ORPHA:217085
HP:0000445	Wide nose	3423	IDS	ORPHA:217093
HP:0000445	Wide nose	551	AVP	OMIM:125700
HP:0000445	Wide nose	79184	BRCC3	ORPHA:280679
HP:0000445	Wide nose	8289	ARID1A	OMIM:614607
HP:0000445	Wide nose	7841	MOGS	OMIM:606056
HP:0000445	Wide nose	7841	MOGS	ORPHA:79330
HP:0000445	Wide nose	157570	ESCO2	ORPHA:2319
HP:0000445	Wide nose	83550	GPR101	ORPHA:963
HP:0000445	Wide nose	9049	AIP	ORPHA:963
HP:0000445	Wide nose	1009	CDH11	OMIM:211380
HP:0000445	Wide nose	6598	SMARCB1	OMIM:614608
HP:0000445	Wide nose	6597	SMARCA4	OMIM:614609
HP:0000445	Wide nose	54539	NDUFB11	ORPHA:2556
HP:0000445	Wide nose	1349	COX7B	ORPHA:2556
HP:0000445	Wide nose	3052	HCCS	ORPHA:2556
HP:0000445	Wide nose	79087	ALG12	OMIM:607143
HP:0000445	Wide nose	79087	ALG12	ORPHA:79324
HP:0000445	Wide nose	444	ASPH	OMIM:601552
HP:0000445	Wide nose	23116	TOGARAM1	OMIM:619185
HP:0000445	Wide nose	6045	RNF2	OMIM:619460
HP:0000445	Wide nose	8091	HMGA2	ORPHA:94063
HP:0000445	Wide nose	23592	LEMD3	ORPHA:94063
HP:0000445	Wide nose	9184	BUB3	ORPHA:1052
HP:0000445	Wide nose	699	BUB1	ORPHA:1052
HP:0000445	Wide nose	9702	CEP57	ORPHA:1052
HP:0000445	Wide nose	9319	TRIP13	ORPHA:1052
HP:0000445	Wide nose	701	BUB1B	ORPHA:1052
HP:0000445	Wide nose	701	BUB1B	OMIM:257300
HP:0000445	Wide nose	26040	SETBP1	OMIM:616078
HP:0000445	Wide nose	54872	PIGG	ORPHA:488635
HP:0000445	Wide nose	4591	TRIM37	OMIM:253250
HP:0000445	Wide nose	51729	WBP11	OMIM:619227
HP:0000445	Wide nose	25942	SIN3A	OMIM:613406
HP:0000445	Wide nose	8200	GDF5	OMIM:610017
HP:0000445	Wide nose	526	ATP6V1B2	ORPHA:3473
HP:0000445	Wide nose	3756	KCNH1	ORPHA:3473
HP:0000445	Wide nose	3756	KCNH1	ORPHA:420561
HP:0000445	Wide nose	3756	KCNH1	OMIM:611816
HP:0000445	Wide nose	3782	KCNN3	ORPHA:3473
HP:0000445	Wide nose	9244	CRLF1	OMIM:272430
HP:0000445	Wide nose	9244	CRLF1	ORPHA:1545
HP:0000445	Wide nose	3425	IDUA	OMIM:607016
HP:0000445	Wide nose	29980	DONSON	OMIM:251230
HP:0000445	Wide nose	26227	PHGDH	OMIM:256520
HP:0000445	Wide nose	5447	POR	OMIM:201750
HP:0000445	Wide nose	56006	SMG9	OMIM:619995
HP:0000445	Wide nose	5977	DPF2	OMIM:618027
HP:0000445	Wide nose	3590	IL11RA	OMIM:614188
HP:0000445	Wide nose	57680	CHD8	OMIM:615032
HP:0000445	Wide nose	1857	DVL3	ORPHA:3107
HP:0000445	Wide nose	7474	WNT5A	ORPHA:3107
HP:0000445	Wide nose	1855	DVL1	ORPHA:3107
HP:0000445	Wide nose	2535	FZD2	ORPHA:3107
HP:0000445	Wide nose	2517	FUCA1	OMIM:230000
HP:0000445	Wide nose	5048	PAFAH1B1	ORPHA:217385
HP:0000445	Wide nose	7531	YWHAE	ORPHA:217385
HP:0000445	Wide nose	92002	CCNQ	OMIM:300707
HP:0000445	Wide nose	117581	TWIST2	OMIM:209885
HP:0000445	Wide nose	3643	INSR	ORPHA:508
HP:0000445	Wide nose	3643	INSR	ORPHA:769
HP:0000445	Wide nose	5728	PTEN	ORPHA:109
HP:0000445	Wide nose	6899	TBX1	ORPHA:1727
HP:0000445	Wide nose	54499	TMCO1	OMIM:213980
HP:0000445	Wide nose	54499	TMCO1	ORPHA:1394
HP:0000445	Wide nose	4796	TONSL	ORPHA:93357
HP:0000445	Wide nose	79718	TBL1XR1	OMIM:602342
HP:0000445	Wide nose	51633	OTUD6B	ORPHA:505237
HP:0000445	Wide nose	6774	STAT3	OMIM:147060
HP:0000445	Wide nose	54870	QRICH1	OMIM:617982
HP:0000445	Wide nose	4256	MGP	ORPHA:85202
HP:0000445	Wide nose	3832	KIF11	ORPHA:2526
HP:0000445	Wide nose	5500	PPP1CB	OMIM:617506
HP:0000445	Wide nose	2542	SLC37A4	OMIM:619525
HP:0000445	Wide nose	79971	WLS	OMIM:619648
HP:0000445	Wide nose	6605	SMARCE1	OMIM:616938
HP:0000445	Wide nose	93587	TRMT10A	ORPHA:391408
HP:0000445	Wide nose	93587	TRMT10A	OMIM:616033
HP:0000445	Wide nose	84919	PPP1R15B	ORPHA:391408
HP:0000445	Wide nose	2273	FHL1	OMIM:300280
HP:0000445	Wide nose	9759	HDAC4	OMIM:600430
HP:0000445	Wide nose	84905	ZNF341	OMIM:618282
HP:0000445	Wide nose	57724	EPG5	OMIM:242840
HP:0000445	Wide nose	54941	RNF125	OMIM:616260
HP:0000445	Wide nose	9652	SKIC3	OMIM:222470
HP:0000445	Wide nose	55275	VPS53	OMIM:615851
HP:0000445	Wide nose	54187	NANS	OMIM:610442
HP:0000445	Wide nose	170692	ADAMTS18	OMIM:615458
HP:0000445	Wide nose	26123	TCTN3	ORPHA:2753
HP:0000445	Wide nose	71	ACTG1	ORPHA:2995
HP:0000445	Wide nose	60	ACTB	ORPHA:2995
HP:0000445	Wide nose	23529	CLCF1	ORPHA:1545
HP:0000445	Wide nose	51025	PAM16	OMIM:613320
HP:0000445	Wide nose	2260	FGFR1	OMIM:615465
HP:0010651	Abnormal meningeal morphology	5077	PAX3	ORPHA:894
HP:0010651	Abnormal meningeal morphology	6309	SC5D	ORPHA:46059
HP:0010651	Abnormal meningeal morphology	80184	CEP290	OMIM:611134
HP:0010651	Abnormal meningeal morphology	134701	RIPPLY2	ORPHA:2311
HP:0010651	Abnormal meningeal morphology	10683	DLL3	ORPHA:2311
HP:0010651	Abnormal meningeal morphology	3955	LFNG	ORPHA:2311
HP:0010651	Abnormal meningeal morphology	84667	HES7	ORPHA:2311
HP:0010651	Abnormal meningeal morphology	145873	MESP2	ORPHA:2311
HP:0010651	Abnormal meningeal morphology	65062	TMEM237	OMIM:614424
HP:0010651	Abnormal meningeal morphology	57688	ZSWIM6	ORPHA:1827
HP:0010651	Abnormal meningeal morphology	1312	COMT	ORPHA:567
HP:0010651	Abnormal meningeal morphology	221037	JMJD1C	ORPHA:567
HP:0010651	Abnormal meningeal morphology	2812	GP1BB	ORPHA:567
HP:0010651	Abnormal meningeal morphology	6239	RREB1	ORPHA:567
HP:0010651	Abnormal meningeal morphology	6899	TBX1	ORPHA:567
HP:0010651	Abnormal meningeal morphology	7290	HIRA	ORPHA:567
HP:0010651	Abnormal meningeal morphology	9632	SEC24C	ORPHA:567
HP:0010651	Abnormal meningeal morphology	7353	UFD1	ORPHA:567
HP:0010651	Abnormal meningeal morphology	421	ARVCF	ORPHA:567
HP:0010651	Abnormal meningeal morphology	148789	B3GALNT2	ORPHA:588
HP:0010651	Abnormal meningeal morphology	29925	GMPPB	ORPHA:588
HP:0010651	Abnormal meningeal morphology	79147	FKRP	ORPHA:588
HP:0010651	Abnormal meningeal morphology	9215	LARGE1	ORPHA:588
HP:0010651	Abnormal meningeal morphology	29954	POMT2	ORPHA:588
HP:0010651	Abnormal meningeal morphology	2218	FKTN	ORPHA:588
HP:0010651	Abnormal meningeal morphology	55624	POMGNT1	ORPHA:588
HP:0010651	Abnormal meningeal morphology	10585	POMT1	ORPHA:588
HP:0010651	Abnormal meningeal morphology	81839	VANGL1	OMIM:600145
HP:0010651	Abnormal meningeal morphology	79848	CSPP1	ORPHA:397715
HP:0010651	Abnormal meningeal morphology	6628	SNRPB	ORPHA:1393
HP:0010651	Abnormal meningeal morphology	80199	FUZ	ORPHA:1136
HP:0010651	Abnormal meningeal morphology	2697	GJA1	ORPHA:1010
HP:0010651	Abnormal meningeal morphology	51259	TMEM216	OMIM:603194
HP:0010651	Abnormal meningeal morphology	9786	KIAA0586	OMIM:616546
HP:0010651	Abnormal meningeal morphology	80781	COL18A1	OMIM:267750
HP:0010651	Abnormal meningeal morphology	5727	PTCH1	OMIM:610828
HP:0010651	Abnormal meningeal morphology	7476	WNT7A	OMIM:276820
HP:0010651	Abnormal meningeal morphology	7547	ZIC3	OMIM:306955
HP:0010651	Abnormal meningeal morphology	64840	PORCN	OMIM:305600
HP:0010651	Abnormal meningeal morphology	341640	FREM2	ORPHA:2052
HP:0010651	Abnormal meningeal morphology	80144	FRAS1	ORPHA:2052
HP:0010651	Abnormal meningeal morphology	80144	FRAS1	OMIM:219000
HP:0010651	Abnormal meningeal morphology	23426	GRIP1	ORPHA:2052
HP:0010651	Abnormal meningeal morphology	4488	MSX2	ORPHA:60015
HP:0010651	Abnormal meningeal morphology	60529	ALX4	ORPHA:60015
HP:0010651	Abnormal meningeal morphology	168667	BMPER	ORPHA:66637
HP:0010651	Abnormal meningeal morphology	57216	VANGL2	OMIM:182940
HP:0010651	Abnormal meningeal morphology	6347	CCL2	OMIM:182940
HP:0010651	Abnormal meningeal morphology	6862	TBXT	OMIM:182940
HP:0010651	Abnormal meningeal morphology	10093	ARPC4	OMIM:620141
HP:0010651	Abnormal meningeal morphology	25942	SIN3A	ORPHA:94065
HP:0010651	Abnormal meningeal morphology	51339	DACT1	ORPHA:63260
HP:0010651	Abnormal meningeal morphology	2737	GLI3	ORPHA:93322
HP:0010651	Abnormal meningeal morphology	2316	FLNA	ORPHA:90652
HP:0010651	Abnormal meningeal morphology	3481	IGF2	ORPHA:2128
HP:0010651	Abnormal meningeal morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0010651	Abnormal meningeal morphology	283120	H19	ORPHA:2128
HP:0010651	Abnormal meningeal morphology	4221	MEN1	ORPHA:652
HP:0010651	Abnormal meningeal morphology	1027	CDKN1B	ORPHA:652
HP:0010651	Abnormal meningeal morphology	1026	CDKN1A	ORPHA:652
HP:0010651	Abnormal meningeal morphology	1030	CDKN2B	ORPHA:652
HP:0010651	Abnormal meningeal morphology	1031	CDKN2C	ORPHA:652
HP:0010651	Abnormal meningeal morphology	4763	NF1	OMIM:162200
HP:0010651	Abnormal meningeal morphology	4913	NTHL1	ORPHA:454840
HP:0010651	Abnormal meningeal morphology	4913	NTHL1	OMIM:616415
HP:0010651	Abnormal meningeal morphology	1387	CREBBP	ORPHA:353277
HP:0010651	Abnormal meningeal morphology	1387	CREBBP	ORPHA:353281
HP:0010651	Abnormal meningeal morphology	8930	MBD4	OMIM:619975
HP:0010651	Abnormal meningeal morphology	5728	PTEN	ORPHA:109
HP:0010651	Abnormal meningeal morphology	5728	PTEN	ORPHA:744
HP:0010651	Abnormal meningeal morphology	5728	PTEN	ORPHA:201
HP:0010651	Abnormal meningeal morphology	5728	PTEN	OMIM:158350
HP:0010651	Abnormal meningeal morphology	5728	PTEN	OMIM:607174
HP:0010651	Abnormal meningeal morphology	7486	WRN	ORPHA:902
HP:0010651	Abnormal meningeal morphology	7486	WRN	OMIM:277700
HP:0010651	Abnormal meningeal morphology	11200	CHEK2	OMIM:609265
HP:0010651	Abnormal meningeal morphology	10483	SEC23B	ORPHA:201
HP:0010651	Abnormal meningeal morphology	6390	SDHB	ORPHA:201
HP:0010651	Abnormal meningeal morphology	6392	SDHD	ORPHA:201
HP:0010651	Abnormal meningeal morphology	6391	SDHC	ORPHA:201
HP:0010651	Abnormal meningeal morphology	205717	USF3	ORPHA:201
HP:0010651	Abnormal meningeal morphology	100144748	KLLN	ORPHA:201
HP:0010651	Abnormal meningeal morphology	11235	PDCD10	ORPHA:221061
HP:0010651	Abnormal meningeal morphology	83605	CCM2	ORPHA:221061
HP:0010651	Abnormal meningeal morphology	889	KRIT1	ORPHA:221061
HP:0010651	Abnormal meningeal morphology	8665	EIF3F	OMIM:618295
HP:0010651	Abnormal meningeal morphology	79798	ARMC5	ORPHA:189427
HP:0010651	Abnormal meningeal morphology	2778	GNAS	ORPHA:189427
HP:0010651	Abnormal meningeal morphology	2033	EP300	ORPHA:353284
HP:0010651	Abnormal meningeal morphology	4000	LMNA	ORPHA:79474
HP:0010651	Abnormal meningeal morphology	4330	MN1	OMIM:607174
HP:0010651	Abnormal meningeal morphology	4921	DDR2	OMIM:271665
HP:0010651	Abnormal meningeal morphology	368	ABCC6	OMIM:177850
HP:0010651	Abnormal meningeal morphology	56623	INPP5E	OMIM:213300
HP:0010651	Abnormal meningeal morphology	2303	FOXC2	ORPHA:33001
HP:0010651	Abnormal meningeal morphology	54820	NDE1	ORPHA:2177
HP:0010651	Abnormal meningeal morphology	28514	DLL1	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	28514	DLL1	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	28514	DLL1	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	28514	DLL1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	10735	STAG2	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	10735	STAG2	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	2253	FGF8	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	2253	FGF8	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	2253	FGF8	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	2253	FGF8	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	8243	SMC1A	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	6496	SIX3	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	6496	SIX3	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	6496	SIX3	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	6496	SIX3	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	7050	TGIF1	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	7050	TGIF1	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	7050	TGIF1	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	7050	TGIF1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	4838	NODAL	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	4838	NODAL	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	4838	NODAL	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	4838	NODAL	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	6469	SHH	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	6469	SHH	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	6469	SHH	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	6469	SHH	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	7546	ZIC2	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	7546	ZIC2	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	7546	ZIC2	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	7546	ZIC2	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	6491	STIL	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	6491	STIL	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	6491	STIL	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	6491	STIL	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	2619	GAS1	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	2619	GAS1	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	2619	GAS1	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	2619	GAS1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	84976	DISP1	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	84976	DISP1	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	84976	DISP1	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	84976	DISP1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	2736	GLI2	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	2736	GLI2	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	2736	GLI2	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	2736	GLI2	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	8928	FOXH1	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	8928	FOXH1	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	8928	FOXH1	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	8928	FOXH1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	50937	CDON	ORPHA:220386
HP:0010651	Abnormal meningeal morphology	50937	CDON	ORPHA:93926
HP:0010651	Abnormal meningeal morphology	50937	CDON	ORPHA:93924
HP:0010651	Abnormal meningeal morphology	50937	CDON	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	23007	PLCH1	ORPHA:93925
HP:0010651	Abnormal meningeal morphology	1822	ATN1	OMIM:618494
HP:0010651	Abnormal meningeal morphology	22827	PUF60	ORPHA:508498
HP:0010651	Abnormal meningeal morphology	79971	WLS	OMIM:619648
HP:0010651	Abnormal meningeal morphology	79583	TMEM231	ORPHA:2752
HP:0010651	Abnormal meningeal morphology	3190	HNRNPK	OMIM:616580
HP:0010651	Abnormal meningeal morphology	7276	TTR	OMIM:105210
HP:0010651	Abnormal meningeal morphology	2200	FBN1	OMIM:154700
HP:0010651	Abnormal meningeal morphology	91801	ALKBH8	OMIM:618504
HP:0010651	Abnormal meningeal morphology	8314	BAP1	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	4771	NF2	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	4771	NF2	ORPHA:637
HP:0010651	Abnormal meningeal morphology	6598	SMARCB1	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	5155	PDGFB	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	84231	TRAF7	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	6608	SMO	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	207	AKT1	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	5290	PIK3CA	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	7015	TERT	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	51684	SUFU	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	6605	SMARCE1	ORPHA:2495
HP:0010651	Abnormal meningeal morphology	1301	COL11A1	OMIM:154780
HP:0010651	Abnormal meningeal morphology	83480	PUS3	OMIM:617051
HP:0010651	Abnormal meningeal morphology	83480	PUS3	ORPHA:488627
HP:0010651	Abnormal meningeal morphology	29899	GPSM2	OMIM:604213
HP:0010651	Abnormal meningeal morphology	65250	CPLANE1	OMIM:277170
HP:0010651	Abnormal meningeal morphology	3747	KCNC2	OMIM:619913
HP:0010651	Abnormal meningeal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010651	Abnormal meningeal morphology	4897	NRCAM	OMIM:619833
HP:0010651	Abnormal meningeal morphology	6323	SCN1A	OMIM:619317
HP:0010651	Abnormal meningeal morphology	3703	STT3A	OMIM:619714
HP:0010651	Abnormal meningeal morphology	85358	SHANK3	OMIM:606232
HP:0010651	Abnormal meningeal morphology	85358	SHANK3	ORPHA:48652
HP:0010651	Abnormal meningeal morphology	25914	RTTN	ORPHA:468631
HP:0010651	Abnormal meningeal morphology	55593	OTUD5	OMIM:301056
HP:0010651	Abnormal meningeal morphology	10733	PLK4	OMIM:616171
HP:0010651	Abnormal meningeal morphology	4854	NOTCH3	OMIM:130720
HP:0010651	Abnormal meningeal morphology	5159	PDGFRB	OMIM:601812
HP:0010651	Abnormal meningeal morphology	57169	ZNFX1	OMIM:619644
HP:0010651	Abnormal meningeal morphology	6651	SON	OMIM:617140
HP:0010651	Abnormal meningeal morphology	6651	SON	ORPHA:500150
HP:0010651	Abnormal meningeal morphology	113179	ADAT3	ORPHA:363528
HP:0010651	Abnormal meningeal morphology	113179	ADAT3	OMIM:615286
HP:0010651	Abnormal meningeal morphology	28952	CCDC22	OMIM:300963
HP:0010651	Abnormal meningeal morphology	8481	OFD1	OMIM:311200
HP:0010651	Abnormal meningeal morphology	25782	RAB3GAP2	OMIM:212720
HP:0010651	Abnormal meningeal morphology	51726	DNAJB11	ORPHA:730
HP:0010651	Abnormal meningeal morphology	23193	GANAB	ORPHA:730
HP:0010651	Abnormal meningeal morphology	5310	PKD1	ORPHA:730
HP:0010651	Abnormal meningeal morphology	5311	PKD2	ORPHA:730
HP:0010651	Abnormal meningeal morphology	29880	ALG5	ORPHA:730
HP:0010651	Abnormal meningeal morphology	9742	IFT140	ORPHA:730
HP:0010651	Abnormal meningeal morphology	79796	ALG9	ORPHA:730
HP:0010651	Abnormal meningeal morphology	80114	BICC1	ORPHA:730
HP:0010651	Abnormal meningeal morphology	4677	NARS1	OMIM:619091
HP:0010651	Abnormal meningeal morphology	64324	NSD1	OMIM:117550
HP:0010651	Abnormal meningeal morphology	537	ATP6AP1	OMIM:300972
HP:0010651	Abnormal meningeal morphology	5528	PPP2R5D	ORPHA:457279
HP:0010651	Abnormal meningeal morphology	10463	SLC30A9	OMIM:617595
HP:0010651	Abnormal meningeal morphology	6326	SCN2A	OMIM:618924
HP:0010651	Abnormal meningeal morphology	131118	DNAJC19	ORPHA:66634
HP:0010651	Abnormal meningeal morphology	63929	XPNPEP3	OMIM:613159
HP:0010651	Abnormal meningeal morphology	51322	WAC	ORPHA:466950
HP:0010651	Abnormal meningeal morphology	4750	NEK1	ORPHA:2751
HP:0010651	Abnormal meningeal morphology	3265	HRAS	ORPHA:2874
HP:0010651	Abnormal meningeal morphology	1717	DHCR7	OMIM:270400
HP:0010651	Abnormal meningeal morphology	23258	DENND5A	OMIM:617281
HP:0010651	Abnormal meningeal morphology	26278	SACS	ORPHA:98
HP:0010651	Abnormal meningeal morphology	3845	KRAS	OMIM:600268
HP:0010651	Abnormal meningeal morphology	25970	SH2B1	ORPHA:261197
HP:0010651	Abnormal meningeal morphology	5297	PI4KA	OMIM:619621
HP:0010651	Abnormal meningeal morphology	4893	NRAS	OMIM:249400
HP:0010651	Abnormal meningeal morphology	10682	EBP	ORPHA:35173
HP:0010651	Abnormal meningeal morphology	2260	FGFR1	OMIM:613001
HP:0010651	Abnormal meningeal morphology	196528	ARID2	OMIM:617808
HP:0010651	Abnormal meningeal morphology	2263	FGFR2	OMIM:101200
HP:0010651	Abnormal meningeal morphology	4088	SMAD3	ORPHA:284984
HP:0010651	Abnormal meningeal morphology	4088	SMAD3	OMIM:613795
HP:0010651	Abnormal meningeal morphology	4088	SMAD3	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	284058	KANSL1	ORPHA:363965
HP:0010651	Abnormal meningeal morphology	284058	KANSL1	ORPHA:363958
HP:0010651	Abnormal meningeal morphology	4015	LOX	OMIM:617168
HP:0010651	Abnormal meningeal morphology	4015	LOX	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	8076	MFAP5	OMIM:616166
HP:0010651	Abnormal meningeal morphology	8076	MFAP5	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	7048	TGFBR2	OMIM:610168
HP:0010651	Abnormal meningeal morphology	7048	TGFBR2	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	5921	RASA1	ORPHA:90307
HP:0010651	Abnormal meningeal morphology	7042	TGFB2	OMIM:614816
HP:0010651	Abnormal meningeal morphology	7042	TGFB2	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	4629	MYH11	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	7046	TGFBR1	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	4087	SMAD2	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	7043	TGFB3	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	4089	SMAD4	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	59	ACTA2	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	5592	PRKG1	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	2301	FOXE3	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	4144	MAT2A	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	23493	HEY2	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	4638	MYLK	ORPHA:91387
HP:0010651	Abnormal meningeal morphology	2006	ELN	ORPHA:91387
HP:0010652	Abnormal dura mater morphology	5727	PTCH1	ORPHA:77301
HP:0010652	Abnormal dura mater morphology	5727	PTCH1	OMIM:109400
HP:0010652	Abnormal dura mater morphology	4921	DDR2	OMIM:271665
HP:0010652	Abnormal dura mater morphology	1301	COL11A1	OMIM:154780
HP:0010652	Abnormal dura mater morphology	368	ABCC6	OMIM:177850
HP:0010652	Abnormal dura mater morphology	57688	ZSWIM6	OMIM:603671
HP:0010652	Abnormal dura mater morphology	54820	NDE1	ORPHA:2177
HP:0010652	Abnormal dura mater morphology	2260	FGFR1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	2260	FGFR1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	28514	DLL1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	28514	DLL1	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	28514	DLL1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	28514	DLL1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	10735	STAG2	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	10735	STAG2	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	2253	FGF8	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	2253	FGF8	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	2253	FGF8	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	2253	FGF8	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	8243	SMC1A	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	6496	SIX3	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	6496	SIX3	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	6496	SIX3	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	6496	SIX3	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	7050	TGIF1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	7050	TGIF1	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	7050	TGIF1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	7050	TGIF1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	4838	NODAL	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	4838	NODAL	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	4838	NODAL	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	4838	NODAL	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	6469	SHH	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	6469	SHH	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	6469	SHH	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	6469	SHH	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	7546	ZIC2	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	7546	ZIC2	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	7546	ZIC2	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	7546	ZIC2	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	6491	STIL	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	6491	STIL	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	6491	STIL	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	6491	STIL	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	2619	GAS1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	2619	GAS1	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	2619	GAS1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	2619	GAS1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	84976	DISP1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	84976	DISP1	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	84976	DISP1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	84976	DISP1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	2736	GLI2	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	2736	GLI2	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	2736	GLI2	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	2736	GLI2	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	8928	FOXH1	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	8928	FOXH1	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	8928	FOXH1	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	8928	FOXH1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	50937	CDON	ORPHA:220386
HP:0010652	Abnormal dura mater morphology	50937	CDON	ORPHA:93926
HP:0010652	Abnormal dura mater morphology	50937	CDON	ORPHA:93924
HP:0010652	Abnormal dura mater morphology	50937	CDON	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	23007	PLCH1	ORPHA:93925
HP:0010652	Abnormal dura mater morphology	1822	ATN1	OMIM:618494
HP:0010653	Abnormality of the falx cerebri	5727	PTCH1	ORPHA:77301
HP:0010653	Abnormality of the falx cerebri	5727	PTCH1	OMIM:109400
HP:0010653	Abnormality of the falx cerebri	4921	DDR2	OMIM:271665
HP:0010653	Abnormality of the falx cerebri	1301	COL11A1	OMIM:154780
HP:0010653	Abnormality of the falx cerebri	368	ABCC6	OMIM:177850
HP:0010653	Abnormality of the falx cerebri	57688	ZSWIM6	OMIM:603671
HP:0010653	Abnormality of the falx cerebri	54820	NDE1	ORPHA:2177
HP:0010653	Abnormality of the falx cerebri	2260	FGFR1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	2260	FGFR1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	28514	DLL1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	28514	DLL1	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	28514	DLL1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	28514	DLL1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	10735	STAG2	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	10735	STAG2	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	2253	FGF8	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	2253	FGF8	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	2253	FGF8	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	2253	FGF8	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	8243	SMC1A	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	6496	SIX3	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	6496	SIX3	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	6496	SIX3	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	6496	SIX3	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	7050	TGIF1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	7050	TGIF1	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	7050	TGIF1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	7050	TGIF1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	4838	NODAL	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	4838	NODAL	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	4838	NODAL	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	4838	NODAL	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	6469	SHH	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	6469	SHH	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	6469	SHH	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	6469	SHH	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	7546	ZIC2	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	7546	ZIC2	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	7546	ZIC2	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	7546	ZIC2	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	6491	STIL	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	6491	STIL	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	6491	STIL	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	6491	STIL	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	2619	GAS1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	2619	GAS1	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	2619	GAS1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	2619	GAS1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	84976	DISP1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	84976	DISP1	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	84976	DISP1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	84976	DISP1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	2736	GLI2	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	2736	GLI2	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	2736	GLI2	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	2736	GLI2	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	8928	FOXH1	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	8928	FOXH1	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	8928	FOXH1	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	8928	FOXH1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	50937	CDON	ORPHA:220386
HP:0010653	Abnormality of the falx cerebri	50937	CDON	ORPHA:93926
HP:0010653	Abnormality of the falx cerebri	50937	CDON	ORPHA:93924
HP:0010653	Abnormality of the falx cerebri	50937	CDON	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	23007	PLCH1	ORPHA:93925
HP:0010653	Abnormality of the falx cerebri	1822	ATN1	OMIM:618494
HP:0010654	Aplasia of the falx cerebri	2260	FGFR1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	2260	FGFR1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	28514	DLL1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	28514	DLL1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	28514	DLL1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	28514	DLL1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	10735	STAG2	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	10735	STAG2	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	2253	FGF8	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	2253	FGF8	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	2253	FGF8	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	2253	FGF8	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	8243	SMC1A	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	6496	SIX3	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	6496	SIX3	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	6496	SIX3	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	6496	SIX3	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	7050	TGIF1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	7050	TGIF1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	7050	TGIF1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	7050	TGIF1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	4838	NODAL	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	4838	NODAL	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	4838	NODAL	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	4838	NODAL	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	6469	SHH	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	6469	SHH	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	6469	SHH	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	6469	SHH	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	7546	ZIC2	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	7546	ZIC2	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	7546	ZIC2	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	7546	ZIC2	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	6491	STIL	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	6491	STIL	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	6491	STIL	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	6491	STIL	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	2619	GAS1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	2619	GAS1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	2619	GAS1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	2619	GAS1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	84976	DISP1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	84976	DISP1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	84976	DISP1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	84976	DISP1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	2736	GLI2	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	2736	GLI2	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	2736	GLI2	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	2736	GLI2	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	8928	FOXH1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	8928	FOXH1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	8928	FOXH1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	8928	FOXH1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	5727	PTCH1	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	5727	PTCH1	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	5727	PTCH1	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	5727	PTCH1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	50937	CDON	ORPHA:220386
HP:0010654	Aplasia of the falx cerebri	50937	CDON	ORPHA:93926
HP:0010654	Aplasia of the falx cerebri	50937	CDON	ORPHA:93924
HP:0010654	Aplasia of the falx cerebri	50937	CDON	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	23007	PLCH1	ORPHA:93925
HP:0010654	Aplasia of the falx cerebri	1822	ATN1	OMIM:618494
HP:0010656	Abnormal epiphyseal ossification	1311	COMP	ORPHA:750
HP:0010656	Abnormal epiphyseal ossification	1311	COMP	OMIM:177170
HP:0010656	Abnormal epiphyseal ossification	1311	COMP	OMIM:132400
HP:0010656	Abnormal epiphyseal ossification	1311	COMP	ORPHA:93308
HP:0010656	Abnormal epiphyseal ossification	3835	KIF22	ORPHA:93360
HP:0010656	Abnormal epiphyseal ossification	65992	DDRGK1	OMIM:602557
HP:0010656	Abnormal epiphyseal ossification	65992	DDRGK1	ORPHA:93352
HP:0010656	Abnormal epiphyseal ossification	1184	CLCN5	OMIM:300554
HP:0010656	Abnormal epiphyseal ossification	1184	CLCN5	OMIM:300009
HP:0010656	Abnormal epiphyseal ossification	142680	SLC34A3	OMIM:241530
HP:0010656	Abnormal epiphyseal ossification	1594	CYP27B1	ORPHA:289157
HP:0010656	Abnormal epiphyseal ossification	1594	CYP27B1	OMIM:264700
HP:0010656	Abnormal epiphyseal ossification	120227	CYP2R1	ORPHA:289157
HP:0010656	Abnormal epiphyseal ossification	120227	CYP2R1	OMIM:600081
HP:0010656	Abnormal epiphyseal ossification	55699	IARS2	OMIM:616007
HP:0010656	Abnormal epiphyseal ossification	100151683	RNU4ATAC	OMIM:210710
HP:0010656	Abnormal epiphyseal ossification	23761	PISD	OMIM:618889
HP:0010656	Abnormal epiphyseal ossification	4796	TONSL	ORPHA:93357
HP:0010656	Abnormal epiphyseal ossification	59341	TRPV4	ORPHA:93314
HP:0010656	Abnormal epiphyseal ossification	5745	PTH1R	ORPHA:79106
HP:0010656	Abnormal epiphyseal ossification	5745	PTH1R	OMIM:600002
HP:0010656	Abnormal epiphyseal ossification	1280	COL2A1	ORPHA:485
HP:0010656	Abnormal epiphyseal ossification	1280	COL2A1	OMIM:156550
HP:0010656	Abnormal epiphyseal ossification	2099	ESR1	ORPHA:785
HP:0010656	Abnormal epiphyseal ossification	1299	COL9A3	OMIM:600969
HP:0010656	Abnormal epiphyseal ossification	51025	PAM16	OMIM:613320
HP:0010656	Abnormal epiphyseal ossification	7421	VDR	OMIM:277440
HP:0010656	Abnormal epiphyseal ossification	406932	MIR140	OMIM:618618
HP:0010656	Abnormal epiphyseal ossification	6662	SOX9	OMIM:114290
HP:0010656	Abnormal epiphyseal ossification	2263	FGFR2	OMIM:101200
HP:0010656	Abnormal epiphyseal ossification	1588	CYP19A1	ORPHA:91
HP:0010656	Abnormal epiphyseal ossification	374654	KIF7	ORPHA:166024
HP:0010656	Abnormal epiphyseal ossification	2879	GPX4	OMIM:250220
HP:0010656	Abnormal epiphyseal ossification	2317	FLNB	ORPHA:56305
HP:0010656	Abnormal epiphyseal ossification	6628	SNRPB	OMIM:117650
HP:0010656	Abnormal epiphyseal ossification	54808	DYM	OMIM:223800
HP:0010656	Abnormal epiphyseal ossification	3756	KCNH1	ORPHA:420561
HP:0010656	Abnormal epiphyseal ossification	4256	MGP	OMIM:245150
HP:0010656	Abnormal epiphyseal ossification	79848	CSPP1	ORPHA:397715
HP:0010656	Abnormal epiphyseal ossification	9786	KIAA0586	ORPHA:397715
HP:0010656	Abnormal epiphyseal ossification	5626	PROP1	ORPHA:226307
HP:0010656	Abnormal epiphyseal ossification	89884	LHX4	ORPHA:226307
HP:0010656	Abnormal epiphyseal ossification	8022	LHX3	ORPHA:226307
HP:0010656	Abnormal epiphyseal ossification	5449	POU1F1	ORPHA:226307
HP:0010656	Abnormal epiphyseal ossification	8820	HESX1	ORPHA:226307
HP:0010656	Abnormal epiphyseal ossification	405753	DUOXA2	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	6528	SLC5A5	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	7038	TG	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	7173	TPO	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	389434	IYD	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	50506	DUOX2	ORPHA:95716
HP:0010656	Abnormal epiphyseal ossification	4148	MATN3	ORPHA:93311
HP:0010656	Abnormal epiphyseal ossification	7253	TSHR	ORPHA:90673
HP:0010656	Abnormal epiphyseal ossification	7252	TSHB	ORPHA:90674
HP:0010656	Abnormal epiphyseal ossification	126792	B3GALT6	OMIM:271640
HP:0010656	Abnormal epiphyseal ossification	8200	GDF5	ORPHA:93384
HP:0010656	Abnormal epiphyseal ossification	658	BMPR1B	ORPHA:93384
HP:0010656	Abnormal epiphyseal ossification	415	ARSL	ORPHA:79345
HP:0010656	Abnormal epiphyseal ossification	3930	LBR	OMIM:215140
HP:0010656	Abnormal epiphyseal ossification	5573	PRKAR1A	ORPHA:950
HP:0010656	Abnormal epiphyseal ossification	5573	PRKAR1A	OMIM:101800
HP:0010656	Abnormal epiphyseal ossification	5144	PDE4D	ORPHA:950
HP:0010656	Abnormal epiphyseal ossification	4921	DDR2	OMIM:271665
HP:0010656	Abnormal epiphyseal ossification	57020	VPS35L	OMIM:619135
HP:0010656	Abnormal epiphyseal ossification	2677	GGCX	OMIM:277450
HP:0010656	Abnormal epiphyseal ossification	5190	PEX6	OMIM:614862
HP:0010656	Abnormal epiphyseal ossification	5190	PEX6	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	50814	NSDHL	OMIM:308050
HP:0010656	Abnormal epiphyseal ossification	8504	PEX3	OMIM:614882
HP:0010656	Abnormal epiphyseal ossification	8504	PEX3	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5828	PEX2	OMIM:614866
HP:0010656	Abnormal epiphyseal ossification	5828	PEX2	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	7068	THRB	OMIM:274300
HP:0010656	Abnormal epiphyseal ossification	4758	NEU1	OMIM:256550
HP:0010656	Abnormal epiphyseal ossification	5191	PEX7	OMIM:215100
HP:0010656	Abnormal epiphyseal ossification	10682	EBP	OMIM:302960
HP:0010656	Abnormal epiphyseal ossification	10682	EBP	ORPHA:35173
HP:0010656	Abnormal epiphyseal ossification	2990	GUSB	ORPHA:584
HP:0010656	Abnormal epiphyseal ossification	1717	DHCR7	OMIM:270400
HP:0010656	Abnormal epiphyseal ossification	8540	AGPS	OMIM:600121
HP:0010656	Abnormal epiphyseal ossification	8443	GNPAT	OMIM:222765
HP:0010656	Abnormal epiphyseal ossification	5189	PEX1	OMIM:601539
HP:0010656	Abnormal epiphyseal ossification	5189	PEX1	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5189	PEX1	OMIM:214100
HP:0010656	Abnormal epiphyseal ossification	5192	PEX10	OMIM:614870
HP:0010656	Abnormal epiphyseal ossification	5192	PEX10	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	55670	PEX26	OMIM:614872
HP:0010656	Abnormal epiphyseal ossification	55670	PEX26	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	9409	PEX16	OMIM:614876
HP:0010656	Abnormal epiphyseal ossification	9409	PEX16	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5193	PEX12	OMIM:614859
HP:0010656	Abnormal epiphyseal ossification	5193	PEX12	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5824	PEX19	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	8799	PEX11B	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5830	PEX5	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5194	PEX13	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	5195	PEX14	ORPHA:912
HP:0010656	Abnormal epiphyseal ossification	388015	RTL1	ORPHA:96334
HP:0010656	Abnormal epiphyseal ossification	8788	DLK1	ORPHA:96334
HP:0010656	Abnormal epiphyseal ossification	55384	MEG3	ORPHA:96334
HP:0010656	Abnormal epiphyseal ossification	6399	TRAPPC2	ORPHA:93284
HP:0010658	Patchy changes of bone mineral density	6905	TBCE	ORPHA:2323
HP:0010658	Patchy changes of bone mineral density	6905	TBCE	OMIM:241410
HP:0010658	Patchy changes of bone mineral density	8878	SQSTM1	OMIM:167250
HP:0010658	Patchy changes of bone mineral density	4507	MTAP	OMIM:112250
HP:0010658	Patchy changes of bone mineral density	2697	GJA1	OMIM:218400
HP:0010658	Patchy changes of bone mineral density	3930	LBR	OMIM:215140
HP:0010659	Patchy variation in bone mineral density	3930	LBR	OMIM:215140
HP:0010650	Hypoplasia of the premaxilla	5727	PTCH1	OMIM:610828
HP:0010650	Hypoplasia of the premaxilla	2736	GLI2	OMIM:610829
HP:0010650	Hypoplasia of the premaxilla	64093	SMOC1	ORPHA:1106
HP:0007811	Horizontal pendular nystagmus	54664	TMEM106B	OMIM:617964
HP:0007811	Horizontal pendular nystagmus	9181	ARHGEF2	OMIM:617523
HP:0007811	Horizontal pendular nystagmus	4041	LRP5	OMIM:601813
HP:0007811	Horizontal pendular nystagmus	54714	CNGB3	OMIM:262300
HP:0007811	Horizontal pendular nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0007811	Horizontal pendular nystagmus	23636	NUP62	ORPHA:225154
HP:0007811	Horizontal pendular nystagmus	103	ADAR	ORPHA:225154
HP:0200068	Nonprogressive visual loss	51594	NBAS	OMIM:614800
HP:0200068	Nonprogressive visual loss	686	BTD	ORPHA:79241
HP:0007601	Midline facial capillary hemangioma	2737	GLI3	ORPHA:672
HP:0007601	Midline facial capillary hemangioma	2737	GLI3	OMIM:146510
HP:0007601	Midline facial capillary hemangioma	10225	CD96	ORPHA:1308
HP:0007603	Freckles in sun-exposed areas	5429	POLH	OMIM:278750
HP:0007603	Freckles in sun-exposed areas	5429	POLH	ORPHA:90342
HP:0007603	Freckles in sun-exposed areas	4948	OCA2	OMIM:203200
HP:0007603	Freckles in sun-exposed areas	4157	MC1R	OMIM:203200
HP:0007603	Freckles in sun-exposed areas	3257	HPS1	OMIM:203300
HP:0000447	Pear-shaped nose	7227	TRPS1	OMIM:190350
HP:0000447	Pear-shaped nose	7227	TRPS1	OMIM:190351
HP:0000447	Pear-shaped nose	284058	KANSL1	OMIM:610443
HP:0000447	Pear-shaped nose	284058	KANSL1	ORPHA:363965
HP:0000447	Pear-shaped nose	284058	KANSL1	ORPHA:363958
HP:0007607	Hypohidrotic ectodermal dysplasia	128178	EDARADD	OMIM:614940
HP:0007607	Hypohidrotic ectodermal dysplasia	128178	EDARADD	OMIM:224900
HP:0007607	Hypohidrotic ectodermal dysplasia	10913	EDAR	OMIM:224900
HP:0007607	Hypohidrotic ectodermal dysplasia	1896	EDA	OMIM:305100
HP:0007609	Hypoproteinemic edema	5651	TMPRSS15	OMIM:226200
HP:0010665	Bilateral coxa valga	5144	PDE4D	ORPHA:439822
HP:0010665	Bilateral coxa valga	4010	LMX1B	ORPHA:495818
HP:0010665	Bilateral coxa valga	6812	STXBP1	ORPHA:495818
HP:0010665	Bilateral coxa valga	4125	MAN2B1	ORPHA:309282
HP:0010665	Bilateral coxa valga	2074	ERCC6	OMIM:278800
HP:0010665	Bilateral coxa valga	57003	CCDC47	OMIM:618268
HP:0010665	Bilateral coxa valga	84342	COG8	OMIM:611182
HP:0010665	Bilateral coxa valga	51506	UFC1	OMIM:618076
HP:0010665	Bilateral coxa valga	7043	TGFB3	OMIM:615582
HP:0010665	Bilateral coxa valga	1297	COL9A1	ORPHA:166002
HP:0010665	Bilateral coxa valga	1298	COL9A2	ORPHA:166002
HP:0010665	Bilateral coxa valga	1299	COL9A3	ORPHA:166002
HP:0010664	Fusion of the left and right thalami	5727	PTCH1	OMIM:610828
HP:0010664	Fusion of the left and right thalami	55770	EXOC2	OMIM:619306
HP:0010664	Fusion of the left and right thalami	1630	DCC	OMIM:617542
HP:0010663	Abnormality of thalamus morphology	10381	TUBB3	ORPHA:300570
HP:0010663	Abnormality of thalamus morphology	10381	TUBB3	ORPHA:467166
HP:0010663	Abnormality of thalamus morphology	80347	COASY	ORPHA:397725
HP:0010663	Abnormality of thalamus morphology	347733	TUBB2B	ORPHA:467166
HP:0010663	Abnormality of thalamus morphology	7846	TUBA1A	ORPHA:467166
HP:0010663	Abnormality of thalamus morphology	5903	RANBP2	ORPHA:88619
HP:0010663	Abnormality of thalamus morphology	5286	PIK3C2A	ORPHA:557003
HP:0010663	Abnormality of thalamus morphology	55209	SETD5	ORPHA:404440
HP:0010663	Abnormality of thalamus morphology	25915	NDUFAF3	ORPHA:70474
HP:0010663	Abnormality of thalamus morphology	4714	NDUFB8	ORPHA:70474
HP:0010663	Abnormality of thalamus morphology	4720	NDUFS2	ORPHA:70474
HP:0010663	Abnormality of thalamus morphology	9997	SCO2	ORPHA:70474
HP:0010663	Abnormality of thalamus morphology	6834	SURF1	ORPHA:70474
HP:0010663	Abnormality of thalamus morphology	5727	PTCH1	OMIM:610828
HP:0010663	Abnormality of thalamus morphology	55770	EXOC2	OMIM:619306
HP:0010663	Abnormality of thalamus morphology	1630	DCC	OMIM:617542
HP:0010663	Abnormality of thalamus morphology	54209	TREM2	OMIM:618193
HP:0010663	Abnormality of thalamus morphology	2055	CLN8	ORPHA:1947
HP:0010663	Abnormality of thalamus morphology	8314	BAP1	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	4771	NF2	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	6598	SMARCB1	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	84231	TRAF7	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	6608	SMO	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	207	AKT1	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	5290	PIK3CA	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	7015	TERT	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	51684	SUFU	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	6605	SMARCE1	ORPHA:2495
HP:0010663	Abnormality of thalamus morphology	6342	SCP2	OMIM:613724
HP:0010663	Abnormality of thalamus morphology	1352	COX10	OMIM:619046
HP:0010663	Abnormality of thalamus morphology	55037	PTCD3	OMIM:619057
HP:0010663	Abnormality of thalamus morphology	23265	EXOC7	OMIM:619072
HP:0010663	Abnormality of thalamus morphology	29925	GMPPB	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	79147	FKRP	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	29954	POMT2	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	84197	POMK	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	55624	POMGNT1	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	10585	POMT1	ORPHA:370959
HP:0010663	Abnormality of thalamus morphology	9440	MED17	OMIM:613668
HP:0010663	Abnormality of thalamus morphology	170825	GSX2	OMIM:618646
HP:0010663	Abnormality of thalamus morphology	6513	SLC2A1	ORPHA:168577
HP:0010663	Abnormality of thalamus morphology	2512	FTL	ORPHA:157846
HP:0010663	Abnormality of thalamus morphology	91574	MTRFR	ORPHA:254930
HP:0010663	Abnormality of thalamus morphology	3074	HEXB	ORPHA:309155
HP:0010663	Abnormality of thalamus morphology	56947	MFF	ORPHA:485421
HP:0010663	Abnormality of thalamus morphology	2670	GFAP	ORPHA:363717
HP:0010663	Abnormality of thalamus morphology	1356	CP	ORPHA:48818
HP:0010663	Abnormality of thalamus morphology	84705	GTPBP3	ORPHA:444013
HP:0010663	Abnormality of thalamus morphology	5428	POLG	ORPHA:70595
HP:0010663	Abnormality of thalamus morphology	56652	TWNK	ORPHA:70595
HP:0010663	Abnormality of thalamus morphology	58494	JAM2	OMIM:618824
HP:0010663	Abnormality of thalamus morphology	57462	MYORG	OMIM:618317
HP:0010663	Abnormality of thalamus morphology	5155	PDGFB	OMIM:615483
HP:0010663	Abnormality of thalamus morphology	54820	NDE1	ORPHA:2177
HP:0010662	Abnormality of the diencephalon	2737	GLI3	ORPHA:672
HP:0010662	Abnormality of the diencephalon	2737	GLI3	OMIM:146510
HP:0010662	Abnormality of the diencephalon	8481	OFD1	OMIM:311200
HP:0010662	Abnormality of the diencephalon	8481	OFD1	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	6608	SMO	OMIM:241800
HP:0010662	Abnormality of the diencephalon	64601	VPS16	OMIM:619291
HP:0010662	Abnormality of the diencephalon	4990	SIX6	OMIM:206900
HP:0010662	Abnormality of the diencephalon	6657	SOX2	OMIM:206900
HP:0010662	Abnormality of the diencephalon	4123	MAN2C1	OMIM:619775
HP:0010662	Abnormality of the diencephalon	65250	CPLANE1	OMIM:277170
HP:0010662	Abnormality of the diencephalon	65250	CPLANE1	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	7074	TIAM1	OMIM:619908
HP:0010662	Abnormality of the diencephalon	10210	TOPORS	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	9851	KIAA0753	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	26123	TCTN3	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	5147	PDE6D	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	51259	TMEM216	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	317662	FAM149B1	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	374654	KIF7	ORPHA:2754
HP:0010662	Abnormality of the diencephalon	3730	ANOS1	OMIM:308700
HP:0010662	Abnormality of the diencephalon	3730	ANOS1	ORPHA:478
HP:0010662	Abnormality of the diencephalon	79625	NDNF	OMIM:618841
HP:0010662	Abnormality of the diencephalon	79625	NDNF	ORPHA:478
HP:0010662	Abnormality of the diencephalon	2260	FGFR1	ORPHA:478
HP:0010662	Abnormality of the diencephalon	10371	SEMA3A	ORPHA:478
HP:0010662	Abnormality of the diencephalon	81848	SPRY4	ORPHA:478
HP:0010662	Abnormality of the diencephalon	23767	FLRT3	ORPHA:478
HP:0010662	Abnormality of the diencephalon	128674	PROKR2	ORPHA:478
HP:0010662	Abnormality of the diencephalon	2253	FGF8	ORPHA:478
HP:0010662	Abnormality of the diencephalon	389549	FEZF1	ORPHA:478
HP:0010662	Abnormality of the diencephalon	54756	IL17RD	ORPHA:478
HP:0010662	Abnormality of the diencephalon	6663	SOX10	ORPHA:478
HP:0010662	Abnormality of the diencephalon	285025	CCDC141	ORPHA:478
HP:0010662	Abnormality of the diencephalon	60675	PROK2	ORPHA:478
HP:0010662	Abnormality of the diencephalon	55636	CHD7	ORPHA:478
HP:0010662	Abnormality of the diencephalon	1848	DUSP6	ORPHA:478
HP:0010662	Abnormality of the diencephalon	6870	TACR3	ORPHA:478
HP:0010662	Abnormality of the diencephalon	55717	WDR11	ORPHA:478
HP:0010662	Abnormality of the diencephalon	9394	HS6ST1	ORPHA:478
HP:0010662	Abnormality of the diencephalon	8820	HESX1	ORPHA:478
HP:0010662	Abnormality of the diencephalon	8822	FGF17	ORPHA:478
HP:0010662	Abnormality of the diencephalon	7200	TRH	OMIM:275120
HP:0010662	Abnormality of the diencephalon	6804	STX1A	ORPHA:904
HP:0010662	Abnormality of the diencephalon	7461	CLIP2	ORPHA:904
HP:0010662	Abnormality of the diencephalon	84277	DNAJC30	ORPHA:904
HP:0010662	Abnormality of the diencephalon	8468	FKBP6	ORPHA:904
HP:0010662	Abnormality of the diencephalon	5982	RFC2	ORPHA:904
HP:0010662	Abnormality of the diencephalon	2969	GTF2I	ORPHA:904
HP:0010662	Abnormality of the diencephalon	3984	LIMK1	ORPHA:904
HP:0010662	Abnormality of the diencephalon	9569	GTF2IRD1	ORPHA:904
HP:0010662	Abnormality of the diencephalon	155382	VPS37D	ORPHA:904
HP:0010662	Abnormality of the diencephalon	155368	METTL27	ORPHA:904
HP:0010662	Abnormality of the diencephalon	114049	BUD23	ORPHA:904
HP:0010662	Abnormality of the diencephalon	7458	EIF4H	ORPHA:904
HP:0010662	Abnormality of the diencephalon	84163	GTF2IRD2	ORPHA:904
HP:0010662	Abnormality of the diencephalon	9275	BCL7B	ORPHA:904
HP:0010662	Abnormality of the diencephalon	26608	TBL2	ORPHA:904
HP:0010662	Abnormality of the diencephalon	653361	NCF1	ORPHA:904
HP:0010662	Abnormality of the diencephalon	135886	TMEM270	ORPHA:904
HP:0010662	Abnormality of the diencephalon	51085	MLXIPL	ORPHA:904
HP:0010662	Abnormality of the diencephalon	9031	BAZ1B	ORPHA:904
HP:0010662	Abnormality of the diencephalon	2006	ELN	ORPHA:904
HP:0010662	Abnormality of the diencephalon	27238	GPKOW	ORPHA:2570
HP:0010662	Abnormality of the diencephalon	4693	NDP	ORPHA:649
HP:0010662	Abnormality of the diencephalon	10381	TUBB3	ORPHA:300570
HP:0010662	Abnormality of the diencephalon	10381	TUBB3	ORPHA:467166
HP:0010662	Abnormality of the diencephalon	80347	COASY	ORPHA:397725
HP:0010662	Abnormality of the diencephalon	347733	TUBB2B	ORPHA:467166
HP:0010662	Abnormality of the diencephalon	7846	TUBA1A	ORPHA:467166
HP:0010662	Abnormality of the diencephalon	5903	RANBP2	ORPHA:88619
HP:0010662	Abnormality of the diencephalon	5286	PIK3C2A	ORPHA:557003
HP:0010662	Abnormality of the diencephalon	55209	SETD5	ORPHA:404440
HP:0010662	Abnormality of the diencephalon	25915	NDUFAF3	ORPHA:70474
HP:0010662	Abnormality of the diencephalon	4714	NDUFB8	ORPHA:70474
HP:0010662	Abnormality of the diencephalon	4720	NDUFS2	ORPHA:70474
HP:0010662	Abnormality of the diencephalon	9997	SCO2	ORPHA:70474
HP:0010662	Abnormality of the diencephalon	6834	SURF1	ORPHA:70474
HP:0010662	Abnormality of the diencephalon	5727	PTCH1	OMIM:610828
HP:0010662	Abnormality of the diencephalon	55770	EXOC2	OMIM:619306
HP:0010662	Abnormality of the diencephalon	1630	DCC	OMIM:617542
HP:0010662	Abnormality of the diencephalon	28514	DLL1	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	28514	DLL1	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	28514	DLL1	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	28514	DLL1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	10735	STAG2	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	10735	STAG2	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	8243	SMC1A	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	6496	SIX3	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	6496	SIX3	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	6496	SIX3	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	6496	SIX3	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	7050	TGIF1	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	7050	TGIF1	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	7050	TGIF1	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	7050	TGIF1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	4838	NODAL	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	4838	NODAL	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	4838	NODAL	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	4838	NODAL	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	6469	SHH	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	6469	SHH	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	6469	SHH	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	6469	SHH	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	7546	ZIC2	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	7546	ZIC2	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	7546	ZIC2	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	7546	ZIC2	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	6491	STIL	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	6491	STIL	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	6491	STIL	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	6491	STIL	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	2619	GAS1	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	2619	GAS1	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	2619	GAS1	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	2619	GAS1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	84976	DISP1	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	84976	DISP1	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	84976	DISP1	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	84976	DISP1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	2736	GLI2	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	2736	GLI2	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	2736	GLI2	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	2736	GLI2	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	8928	FOXH1	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	8928	FOXH1	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	8928	FOXH1	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	8928	FOXH1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	50937	CDON	ORPHA:220386
HP:0010662	Abnormality of the diencephalon	50937	CDON	ORPHA:93926
HP:0010662	Abnormality of the diencephalon	50937	CDON	ORPHA:93924
HP:0010662	Abnormality of the diencephalon	50937	CDON	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	23007	PLCH1	ORPHA:93925
HP:0010662	Abnormality of the diencephalon	3953	LEPR	OMIM:614963
HP:0010662	Abnormality of the diencephalon	1499	CTNNB1	ORPHA:54595
HP:0010662	Abnormality of the diencephalon	673	BRAF	ORPHA:54595
HP:0010662	Abnormality of the diencephalon	6492	SIM1	ORPHA:398079
HP:0010662	Abnormality of the diencephalon	54551	MAGEL2	ORPHA:398069
HP:0010662	Abnormality of the diencephalon	8022	LHX3	ORPHA:231720
HP:0010662	Abnormality of the diencephalon	54209	TREM2	OMIM:618193
HP:0010662	Abnormality of the diencephalon	2055	CLN8	ORPHA:1947
HP:0010662	Abnormality of the diencephalon	8314	BAP1	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	4771	NF2	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	6598	SMARCB1	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	84231	TRAF7	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	207	AKT1	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	5290	PIK3CA	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	7015	TERT	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	51684	SUFU	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	6605	SMARCE1	ORPHA:2495
HP:0010662	Abnormality of the diencephalon	6342	SCP2	OMIM:613724
HP:0010662	Abnormality of the diencephalon	1352	COX10	OMIM:619046
HP:0010662	Abnormality of the diencephalon	55037	PTCD3	OMIM:619057
HP:0010662	Abnormality of the diencephalon	23265	EXOC7	OMIM:619072
HP:0010662	Abnormality of the diencephalon	29925	GMPPB	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	79147	FKRP	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	29954	POMT2	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	84197	POMK	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	55624	POMGNT1	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	10585	POMT1	ORPHA:370959
HP:0010662	Abnormality of the diencephalon	9440	MED17	OMIM:613668
HP:0010662	Abnormality of the diencephalon	170825	GSX2	OMIM:618646
HP:0010662	Abnormality of the diencephalon	6513	SLC2A1	ORPHA:168577
HP:0010662	Abnormality of the diencephalon	2512	FTL	ORPHA:157846
HP:0010662	Abnormality of the diencephalon	91574	MTRFR	ORPHA:254930
HP:0010662	Abnormality of the diencephalon	3074	HEXB	ORPHA:309155
HP:0010662	Abnormality of the diencephalon	56947	MFF	ORPHA:485421
HP:0010662	Abnormality of the diencephalon	2670	GFAP	ORPHA:363717
HP:0010662	Abnormality of the diencephalon	1356	CP	ORPHA:48818
HP:0010662	Abnormality of the diencephalon	84705	GTPBP3	ORPHA:444013
HP:0010662	Abnormality of the diencephalon	5428	POLG	ORPHA:70595
HP:0010662	Abnormality of the diencephalon	56652	TWNK	ORPHA:70595
HP:0010662	Abnormality of the diencephalon	54820	NDE1	ORPHA:2177
HP:0010662	Abnormality of the diencephalon	58494	JAM2	OMIM:618824
HP:0010662	Abnormality of the diencephalon	57462	MYORG	OMIM:618317
HP:0010662	Abnormality of the diencephalon	5155	PDGFB	OMIM:615483
HP:0010662	Abnormality of the diencephalon	80208	SPG11	ORPHA:2822
HP:0010662	Abnormality of the diencephalon	1000	CDH2	OMIM:618929
HP:0010669	Hypoplasia of the zygomatic bone	10992	SF3B2	OMIM:164210
HP:0010669	Hypoplasia of the zygomatic bone	23019	CNOT1	ORPHA:556955
HP:0010669	Hypoplasia of the zygomatic bone	23019	CNOT1	OMIM:618500
HP:0010669	Hypoplasia of the zygomatic bone	157680	VPS13B	ORPHA:193
HP:0010669	Hypoplasia of the zygomatic bone	51594	NBAS	OMIM:614800
HP:0010669	Hypoplasia of the zygomatic bone	6804	STX1A	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	7461	CLIP2	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	84277	DNAJC30	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	8468	FKBP6	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	5982	RFC2	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	2969	GTF2I	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	3984	LIMK1	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	9569	GTF2IRD1	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	155382	VPS37D	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	155368	METTL27	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	114049	BUD23	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	7458	EIF4H	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	84163	GTF2IRD2	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	9275	BCL7B	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	26608	TBL2	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	653361	NCF1	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	135886	TMEM270	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	51085	MLXIPL	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	9031	BAZ1B	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	2006	ELN	ORPHA:904
HP:0010669	Hypoplasia of the zygomatic bone	5604	MAP2K1	ORPHA:1340
HP:0010669	Hypoplasia of the zygomatic bone	5605	MAP2K2	ORPHA:1340
HP:0010669	Hypoplasia of the zygomatic bone	3845	KRAS	ORPHA:1340
HP:0010669	Hypoplasia of the zygomatic bone	673	BRAF	ORPHA:1340
HP:0010669	Hypoplasia of the zygomatic bone	8481	OFD1	ORPHA:2750
HP:0010669	Hypoplasia of the zygomatic bone	5184	PEPD	ORPHA:742
HP:0010669	Hypoplasia of the zygomatic bone	51082	POLR1D	OMIM:613717
HP:0010669	Hypoplasia of the zygomatic bone	51082	POLR1D	ORPHA:861
HP:0010669	Hypoplasia of the zygomatic bone	117581	TWIST2	ORPHA:920
HP:0010669	Hypoplasia of the zygomatic bone	117581	TWIST2	OMIM:200110
HP:0010669	Hypoplasia of the zygomatic bone	10262	SF3B4	ORPHA:245
HP:0010669	Hypoplasia of the zygomatic bone	84172	POLR1B	ORPHA:861
HP:0010669	Hypoplasia of the zygomatic bone	9533	POLR1C	ORPHA:861
HP:0010669	Hypoplasia of the zygomatic bone	9533	POLR1C	OMIM:248390
HP:0010669	Hypoplasia of the zygomatic bone	6949	TCOF1	ORPHA:861
HP:0010669	Hypoplasia of the zygomatic bone	1301	COL11A1	ORPHA:560
HP:0010669	Hypoplasia of the zygomatic bone	2263	FGFR2	ORPHA:1555
HP:0010669	Hypoplasia of the zygomatic bone	860	RUNX2	ORPHA:1452
HP:0010669	Hypoplasia of the zygomatic bone	5818	NECTIN1	ORPHA:3253
HP:0010669	Hypoplasia of the zygomatic bone	4853	NOTCH2	ORPHA:955
HP:0010669	Hypoplasia of the zygomatic bone	55636	CHD7	ORPHA:138
HP:0010669	Hypoplasia of the zygomatic bone	9723	SEMA3E	ORPHA:138
HP:0010667	Aplasia of the maxilla	1896	EDA	OMIM:313500
HP:0010666	Hypoplasia of the anterior nasal spine	415	ARSL	ORPHA:79345
HP:0007610	Blotching pigmentation of the skin	667	DST	OMIM:614653
HP:0007610	Blotching pigmentation of the skin	3977	LIFR	OMIM:601559
HP:0000451	Triangular nasal tip	546	ATRX	OMIM:309580
HP:0000451	Triangular nasal tip	6925	TCF4	ORPHA:2896
HP:0000452	Choanal stenosis	699	BUB1	OMIM:620183
HP:0000452	Choanal stenosis	9791	PTDSS1	OMIM:151050
HP:0000452	Choanal stenosis	4784	NFIX	OMIM:602535
HP:0000452	Choanal stenosis	5447	POR	OMIM:201750
HP:0000452	Choanal stenosis	5447	POR	ORPHA:95699
HP:0000452	Choanal stenosis	5447	POR	OMIM:207410
HP:0000452	Choanal stenosis	5745	PTH1R	OMIM:156400
HP:0000452	Choanal stenosis	10606	PAICS	OMIM:619859
HP:0000452	Choanal stenosis	2261	FGFR3	OMIM:100800
HP:0000452	Choanal stenosis	55165	CEP55	OMIM:236500
HP:0000452	Choanal stenosis	57167	SALL4	OMIM:607323
HP:0000452	Choanal stenosis	8085	KMT2D	OMIM:620186
HP:0000452	Choanal stenosis	80144	FRAS1	OMIM:219000
HP:0000452	Choanal stenosis	51082	POLR1D	OMIM:613717
HP:0000452	Choanal stenosis	9401	RECQL4	OMIM:218600
HP:0000452	Choanal stenosis	51360	MBTPS2	OMIM:308205
HP:0000452	Choanal stenosis	10943	MSL3	OMIM:301032
HP:0000452	Choanal stenosis	91179	SCARF2	OMIM:600920
HP:0000452	Choanal stenosis	80816	ASXL3	OMIM:615485
HP:0000452	Choanal stenosis	2260	FGFR1	OMIM:101600
HP:0000452	Choanal stenosis	2263	FGFR2	OMIM:101600
HP:0000452	Choanal stenosis	2263	FGFR2	OMIM:207410
HP:0000452	Choanal stenosis	2263	FGFR2	OMIM:123790
HP:0000452	Choanal stenosis	2263	FGFR2	OMIM:101200
HP:0000452	Choanal stenosis	26040	SETBP1	OMIM:269150
HP:0000452	Choanal stenosis	26040	SETBP1	ORPHA:798
HP:0000452	Choanal stenosis	84172	POLR1B	OMIM:618939
HP:0000452	Choanal stenosis	50964	SOST	OMIM:122860
HP:0000452	Choanal stenosis	56975	FAM20C	OMIM:259775
HP:0000452	Choanal stenosis	79633	FAT4	ORPHA:314679
HP:0000452	Choanal stenosis	8642	DCHS1	ORPHA:314679
HP:0000452	Choanal stenosis	10907	TXNL4A	OMIM:608572
HP:0000454	Flared nostrils	5160	PDHA1	OMIM:312170
HP:0000454	Flared nostrils	8260	NAA10	OMIM:300855
HP:0000454	Flared nostrils	998	CDC42	ORPHA:487796
HP:0000454	Flared nostrils	998	CDC42	OMIM:616737
HP:0000454	Flared nostrils	23261	CAMTA1	OMIM:614756
HP:0000454	Flared nostrils	8239	USP9X	ORPHA:480880
HP:0000454	Flared nostrils	26057	ANKRD17	OMIM:619504
HP:0000454	Flared nostrils	64093	SMOC1	OMIM:206920
HP:0000454	Flared nostrils	79184	BRCC3	ORPHA:280679
HP:0000454	Flared nostrils	25942	SIN3A	OMIM:613406
HP:0000454	Flared nostrils	6925	TCF4	OMIM:610954
HP:0000457	Depressed nasal ridge	2737	GLI3	ORPHA:672
HP:0000457	Depressed nasal ridge	5573	PRKAR1A	ORPHA:950
HP:0000457	Depressed nasal ridge	5144	PDE4D	ORPHA:950
HP:0000457	Depressed nasal ridge	4921	DDR2	OMIM:271665
HP:0000457	Depressed nasal ridge	4621	MYH3	ORPHA:2053
HP:0000457	Depressed nasal ridge	259232	NALCN	ORPHA:2053
HP:0000457	Depressed nasal ridge	60529	ALX4	OMIM:613451
HP:0000457	Depressed nasal ridge	5193	PEX12	OMIM:266510
HP:0000457	Depressed nasal ridge	1947	EFNB1	ORPHA:1520
HP:0000457	Depressed nasal ridge	5077	PAX3	ORPHA:1529
HP:0000457	Depressed nasal ridge	9342	SNAP29	ORPHA:66631
HP:0000457	Depressed nasal ridge	3313	HSPA9	OMIM:616854
HP:0000457	Depressed nasal ridge	10157	AASS	ORPHA:2203
HP:0000457	Depressed nasal ridge	6662	SOX9	OMIM:114290
HP:0000457	Depressed nasal ridge	55777	MBD5	OMIM:156200
HP:0000457	Depressed nasal ridge	6023	RMRP	ORPHA:175
HP:0000457	Depressed nasal ridge	4125	MAN2B1	OMIM:248500
HP:0000457	Depressed nasal ridge	7021	TFAP2B	ORPHA:46627
HP:0000457	Depressed nasal ridge	546	ATRX	ORPHA:847
HP:0000457	Depressed nasal ridge	80324	PUS1	OMIM:600462
HP:0000457	Depressed nasal ridge	84314	TMEM107	ORPHA:564
HP:0000457	Depressed nasal ridge	26123	TCTN3	ORPHA:564
HP:0000457	Depressed nasal ridge	26123	TCTN3	ORPHA:2753
HP:0000457	Depressed nasal ridge	79867	TCTN2	ORPHA:564
HP:0000457	Depressed nasal ridge	79867	TCTN2	OMIM:613885
HP:0000457	Depressed nasal ridge	80776	B9D2	ORPHA:564
HP:0000457	Depressed nasal ridge	79600	TCTN1	ORPHA:564
HP:0000457	Depressed nasal ridge	57096	RPGRIP1	ORPHA:564
HP:0000457	Depressed nasal ridge	79848	CSPP1	ORPHA:564
HP:0000457	Depressed nasal ridge	80184	CEP290	ORPHA:564
HP:0000457	Depressed nasal ridge	51259	TMEM216	ORPHA:564
HP:0000457	Depressed nasal ridge	57545	CC2D2A	ORPHA:564
HP:0000457	Depressed nasal ridge	79583	TMEM231	ORPHA:564
HP:0000457	Depressed nasal ridge	91147	TMEM67	ORPHA:564
HP:0000457	Depressed nasal ridge	79770	TXNDC15	ORPHA:564
HP:0000457	Depressed nasal ridge	27077	B9D1	ORPHA:564
HP:0000457	Depressed nasal ridge	23322	RPGRIP1L	ORPHA:564
HP:0000457	Depressed nasal ridge	54903	MKS1	ORPHA:564
HP:0000457	Depressed nasal ridge	65062	TMEM237	ORPHA:564
HP:0000457	Depressed nasal ridge	9184	BUB3	ORPHA:1052
HP:0000457	Depressed nasal ridge	699	BUB1	ORPHA:1052
HP:0000457	Depressed nasal ridge	9702	CEP57	ORPHA:1052
HP:0000457	Depressed nasal ridge	9319	TRIP13	ORPHA:1052
HP:0000457	Depressed nasal ridge	701	BUB1B	ORPHA:1052
HP:0000457	Depressed nasal ridge	2688	GH1	OMIM:262400
HP:0000457	Depressed nasal ridge	10013	HDAC6	OMIM:300863
HP:0000457	Depressed nasal ridge	10013	HDAC6	ORPHA:163966
HP:0000457	Depressed nasal ridge	4330	MN1	OMIM:618774
HP:0000457	Depressed nasal ridge	28514	DLL1	ORPHA:93926
HP:0000457	Depressed nasal ridge	28514	DLL1	ORPHA:93924
HP:0000457	Depressed nasal ridge	28514	DLL1	ORPHA:93925
HP:0000457	Depressed nasal ridge	28514	DLL1	ORPHA:220386
HP:0000457	Depressed nasal ridge	2253	FGF8	ORPHA:93926
HP:0000457	Depressed nasal ridge	2253	FGF8	ORPHA:93924
HP:0000457	Depressed nasal ridge	2253	FGF8	ORPHA:93925
HP:0000457	Depressed nasal ridge	2253	FGF8	ORPHA:220386
HP:0000457	Depressed nasal ridge	6496	SIX3	ORPHA:93926
HP:0000457	Depressed nasal ridge	6496	SIX3	ORPHA:93924
HP:0000457	Depressed nasal ridge	6496	SIX3	ORPHA:93925
HP:0000457	Depressed nasal ridge	6496	SIX3	ORPHA:220386
HP:0000457	Depressed nasal ridge	7050	TGIF1	ORPHA:93926
HP:0000457	Depressed nasal ridge	7050	TGIF1	ORPHA:93924
HP:0000457	Depressed nasal ridge	7050	TGIF1	ORPHA:93925
HP:0000457	Depressed nasal ridge	7050	TGIF1	ORPHA:220386
HP:0000457	Depressed nasal ridge	4838	NODAL	ORPHA:93926
HP:0000457	Depressed nasal ridge	4838	NODAL	ORPHA:93924
HP:0000457	Depressed nasal ridge	4838	NODAL	ORPHA:93925
HP:0000457	Depressed nasal ridge	4838	NODAL	ORPHA:220386
HP:0000457	Depressed nasal ridge	6469	SHH	ORPHA:93926
HP:0000457	Depressed nasal ridge	6469	SHH	ORPHA:93924
HP:0000457	Depressed nasal ridge	6469	SHH	ORPHA:93925
HP:0000457	Depressed nasal ridge	6469	SHH	ORPHA:220386
HP:0000457	Depressed nasal ridge	7546	ZIC2	ORPHA:93926
HP:0000457	Depressed nasal ridge	7546	ZIC2	ORPHA:93924
HP:0000457	Depressed nasal ridge	7546	ZIC2	ORPHA:93925
HP:0000457	Depressed nasal ridge	7546	ZIC2	ORPHA:220386
HP:0000457	Depressed nasal ridge	6491	STIL	ORPHA:93926
HP:0000457	Depressed nasal ridge	6491	STIL	ORPHA:93924
HP:0000457	Depressed nasal ridge	6491	STIL	ORPHA:93925
HP:0000457	Depressed nasal ridge	6491	STIL	ORPHA:220386
HP:0000457	Depressed nasal ridge	2619	GAS1	ORPHA:93926
HP:0000457	Depressed nasal ridge	2619	GAS1	ORPHA:93924
HP:0000457	Depressed nasal ridge	2619	GAS1	ORPHA:93925
HP:0000457	Depressed nasal ridge	2619	GAS1	ORPHA:220386
HP:0000457	Depressed nasal ridge	84976	DISP1	ORPHA:93926
HP:0000457	Depressed nasal ridge	84976	DISP1	ORPHA:93924
HP:0000457	Depressed nasal ridge	84976	DISP1	ORPHA:93925
HP:0000457	Depressed nasal ridge	84976	DISP1	ORPHA:220386
HP:0000457	Depressed nasal ridge	2736	GLI2	ORPHA:93926
HP:0000457	Depressed nasal ridge	2736	GLI2	ORPHA:93924
HP:0000457	Depressed nasal ridge	2736	GLI2	ORPHA:93925
HP:0000457	Depressed nasal ridge	2736	GLI2	ORPHA:95494
HP:0000457	Depressed nasal ridge	2736	GLI2	ORPHA:220386
HP:0000457	Depressed nasal ridge	8928	FOXH1	ORPHA:93926
HP:0000457	Depressed nasal ridge	8928	FOXH1	ORPHA:93924
HP:0000457	Depressed nasal ridge	8928	FOXH1	ORPHA:93925
HP:0000457	Depressed nasal ridge	8928	FOXH1	ORPHA:220386
HP:0000457	Depressed nasal ridge	5727	PTCH1	ORPHA:93926
HP:0000457	Depressed nasal ridge	5727	PTCH1	ORPHA:93924
HP:0000457	Depressed nasal ridge	5727	PTCH1	ORPHA:93925
HP:0000457	Depressed nasal ridge	5727	PTCH1	ORPHA:220386
HP:0000457	Depressed nasal ridge	50937	CDON	ORPHA:93926
HP:0000457	Depressed nasal ridge	50937	CDON	ORPHA:93924
HP:0000457	Depressed nasal ridge	50937	CDON	ORPHA:93925
HP:0000457	Depressed nasal ridge	50937	CDON	ORPHA:220386
HP:0000457	Depressed nasal ridge	2260	FGFR1	ORPHA:93924
HP:0000457	Depressed nasal ridge	2260	FGFR1	ORPHA:220386
HP:0000457	Depressed nasal ridge	23007	PLCH1	ORPHA:93925
HP:0000457	Depressed nasal ridge	10735	STAG2	ORPHA:93925
HP:0000457	Depressed nasal ridge	10735	STAG2	ORPHA:220386
HP:0000457	Depressed nasal ridge	9487	PIGL	ORPHA:3474
HP:0000457	Depressed nasal ridge	54496	PRMT7	ORPHA:464288
HP:0000457	Depressed nasal ridge	26227	PHGDH	OMIM:256520
HP:0000457	Depressed nasal ridge	64327	LMBR1	ORPHA:2378
HP:0000457	Depressed nasal ridge	5979	RET	ORPHA:1848
HP:0000457	Depressed nasal ridge	8516	ITGA8	ORPHA:1848
HP:0000457	Depressed nasal ridge	26281	FGF20	ORPHA:1848
HP:0000457	Depressed nasal ridge	2674	GFRA1	ORPHA:1848
HP:0000457	Depressed nasal ridge	7484	WNT9B	ORPHA:1848
HP:0000457	Depressed nasal ridge	80000	GREB1L	ORPHA:1848
HP:0000457	Depressed nasal ridge	5590	PRKCZ	ORPHA:1606
HP:0000457	Depressed nasal ridge	2563	GABRD	ORPHA:1606
HP:0000457	Depressed nasal ridge	23013	SPEN	ORPHA:1606
HP:0000457	Depressed nasal ridge	8510	MMP23B	ORPHA:1606
HP:0000457	Depressed nasal ridge	7798	LUZP1	ORPHA:1606
HP:0000457	Depressed nasal ridge	6497	SKI	ORPHA:1606
HP:0000457	Depressed nasal ridge	10630	PDPN	ORPHA:1606
HP:0000457	Depressed nasal ridge	3339	HSPG2	ORPHA:1606
HP:0000457	Depressed nasal ridge	10277	UBE4B	ORPHA:1606
HP:0000457	Depressed nasal ridge	8514	KCNAB2	ORPHA:1606
HP:0000457	Depressed nasal ridge	473	RERE	ORPHA:1606
HP:0000457	Depressed nasal ridge	63976	PRDM16	ORPHA:1606
HP:0000457	Depressed nasal ridge	54897	CASZ1	ORPHA:1606
HP:0000457	Depressed nasal ridge	6899	TBX1	ORPHA:1727
HP:0000457	Depressed nasal ridge	415	ARSL	ORPHA:79345
HP:0000457	Depressed nasal ridge	5184	PEPD	ORPHA:742
HP:0000457	Depressed nasal ridge	5626	PROP1	ORPHA:95494
HP:0000457	Depressed nasal ridge	5626	PROP1	ORPHA:90695
HP:0000457	Depressed nasal ridge	89884	LHX4	ORPHA:95494
HP:0000457	Depressed nasal ridge	3170	FOXA2	ORPHA:95494
HP:0000457	Depressed nasal ridge	5449	POU1F1	ORPHA:95494
HP:0000457	Depressed nasal ridge	8820	HESX1	ORPHA:95494
HP:0000457	Depressed nasal ridge	5015	OTX2	ORPHA:95494
HP:0000457	Depressed nasal ridge	60401	EDA2R	ORPHA:181
HP:0000457	Depressed nasal ridge	1896	EDA	ORPHA:181
HP:0000457	Depressed nasal ridge	4849	CNOT3	OMIM:618672
HP:0000457	Depressed nasal ridge	26154	ABCA12	ORPHA:457
HP:0000457	Depressed nasal ridge	199221	DZIP1L	ORPHA:731
HP:0000457	Depressed nasal ridge	5314	PKHD1	ORPHA:731
HP:0000457	Depressed nasal ridge	56975	FAM20C	ORPHA:1832
HP:0000457	Depressed nasal ridge	55343	SLC35C1	ORPHA:99843
HP:0000457	Depressed nasal ridge	3930	LBR	OMIM:215140
HP:0000457	Depressed nasal ridge	9652	SKIC3	OMIM:222470
HP:0000457	Depressed nasal ridge	8243	SMC1A	ORPHA:220386
HP:0000457	Depressed nasal ridge	2720	GLB1	OMIM:230500
HP:0000457	Depressed nasal ridge	6223	RPS19	OMIM:105650
HP:0000457	Depressed nasal ridge	117581	TWIST2	ORPHA:1807
HP:0000457	Depressed nasal ridge	1387	CREBBP	OMIM:618332
HP:0000457	Depressed nasal ridge	5781	PTPN11	OMIM:151100
HP:0000457	Depressed nasal ridge	29968	PSAT1	OMIM:616038
HP:0000457	Depressed nasal ridge	5081	PAX7	OMIM:618578
HP:0000457	Depressed nasal ridge	51053	GMNN	OMIM:616835
HP:0000457	Depressed nasal ridge	1146	CHRNG	OMIM:253290
HP:0000457	Depressed nasal ridge	1144	CHRND	OMIM:253290
HP:0000457	Depressed nasal ridge	1134	CHRNA1	OMIM:253290
HP:0000457	Depressed nasal ridge	2690	GHR	ORPHA:633
HP:0000457	Depressed nasal ridge	6658	SOX3	ORPHA:90695
HP:0000457	Depressed nasal ridge	7189	TRAF6	ORPHA:1810
HP:0000457	Depressed nasal ridge	128178	EDARADD	ORPHA:1810
HP:0000457	Depressed nasal ridge	126695	KDF1	ORPHA:1810
HP:0000457	Depressed nasal ridge	10913	EDAR	ORPHA:1810
HP:0000457	Depressed nasal ridge	168667	BMPER	OMIM:608022
HP:0000458	Anosmia	27019	DNAI1	OMIM:244400
HP:0000458	Anosmia	23347	SMCHD1	ORPHA:2250
HP:0000458	Anosmia	23347	SMCHD1	OMIM:603457
HP:0000458	Anosmia	8822	FGF17	OMIM:615270
HP:0000458	Anosmia	8822	FGF17	ORPHA:478
HP:0000458	Anosmia	128674	PROKR2	OMIM:244200
HP:0000458	Anosmia	128674	PROKR2	ORPHA:3157
HP:0000458	Anosmia	128674	PROKR2	ORPHA:478
HP:0000458	Anosmia	2260	FGFR1	OMIM:147950
HP:0000458	Anosmia	2260	FGFR1	ORPHA:3157
HP:0000458	Anosmia	2260	FGFR1	ORPHA:478
HP:0000458	Anosmia	54585	LZTFL1	OMIM:615994
HP:0000458	Anosmia	6938	TCF12	OMIM:619718
HP:0000458	Anosmia	4808	NHLH2	OMIM:619755
HP:0000458	Anosmia	286	ANK1	ORPHA:251066
HP:0000458	Anosmia	60675	PROK2	OMIM:610628
HP:0000458	Anosmia	60675	PROK2	ORPHA:478
HP:0000458	Anosmia	2488	FSHB	ORPHA:52901
HP:0000458	Anosmia	5264	PHYH	OMIM:266500
HP:0000458	Anosmia	5264	PHYH	ORPHA:773
HP:0000458	Anosmia	55636	CHD7	OMIM:612370
HP:0000458	Anosmia	55636	CHD7	ORPHA:138
HP:0000458	Anosmia	55636	CHD7	OMIM:214800
HP:0000458	Anosmia	55636	CHD7	ORPHA:478
HP:0000458	Anosmia	6335	SCN9A	OMIM:243000
HP:0000458	Anosmia	6663	SOX10	OMIM:613266
HP:0000458	Anosmia	6663	SOX10	OMIM:609136
HP:0000458	Anosmia	6663	SOX10	OMIM:611584
HP:0000458	Anosmia	6663	SOX10	ORPHA:478
HP:0000458	Anosmia	2263	FGFR2	ORPHA:2363
HP:0000458	Anosmia	2261	FGFR3	ORPHA:2363
HP:0000458	Anosmia	2255	FGF10	ORPHA:2363
HP:0000458	Anosmia	84634	KISS1R	OMIM:614837
HP:0000458	Anosmia	23516	SLC39A14	OMIM:144755
HP:0000458	Anosmia	26012	NSMF	OMIM:614838
HP:0000458	Anosmia	9723	SEMA3E	ORPHA:138
HP:0000458	Anosmia	6866	TAC3	OMIM:614839
HP:0000458	Anosmia	415	ARSL	OMIM:302950
HP:0000458	Anosmia	79625	NDNF	OMIM:618841
HP:0000458	Anosmia	79625	NDNF	ORPHA:478
HP:0000458	Anosmia	9394	HS6ST1	OMIM:614880
HP:0000458	Anosmia	9394	HS6ST1	ORPHA:478
HP:0000458	Anosmia	2796	GNRH1	OMIM:614841
HP:0000458	Anosmia	6469	SHH	OMIM:147250
HP:0000458	Anosmia	3814	KISS1	OMIM:614842
HP:0000458	Anosmia	2253	FGF8	OMIM:612702
HP:0000458	Anosmia	2253	FGF8	ORPHA:478
HP:0000458	Anosmia	23400	ATP13A2	OMIM:606693
HP:0000458	Anosmia	3730	ANOS1	OMIM:308700
HP:0000458	Anosmia	3730	ANOS1	ORPHA:478
HP:0000458	Anosmia	389549	FEZF1	OMIM:616030
HP:0000458	Anosmia	389549	FEZF1	ORPHA:478
HP:0000458	Anosmia	54756	IL17RD	OMIM:615267
HP:0000458	Anosmia	54756	IL17RD	ORPHA:478
HP:0000458	Anosmia	109	ADCY3	OMIM:617885
HP:0000458	Anosmia	10371	SEMA3A	OMIM:614897
HP:0000458	Anosmia	10371	SEMA3A	ORPHA:478
HP:0000458	Anosmia	55717	WDR11	OMIM:614858
HP:0000458	Anosmia	55717	WDR11	ORPHA:478
HP:0000458	Anosmia	6657	SOX2	ORPHA:3157
HP:0000458	Anosmia	6658	SOX3	ORPHA:3157
HP:0000458	Anosmia	9915	ARNT2	ORPHA:3157
HP:0000458	Anosmia	8820	HESX1	ORPHA:3157
HP:0000458	Anosmia	8820	HESX1	ORPHA:478
HP:0000458	Anosmia	5015	OTX2	ORPHA:3157
HP:0000458	Anosmia	9927	MFN2	OMIM:601152
HP:0000458	Anosmia	81848	SPRY4	ORPHA:478
HP:0000458	Anosmia	23767	FLRT3	ORPHA:478
HP:0000458	Anosmia	1630	DCC	ORPHA:478
HP:0000458	Anosmia	285025	CCDC141	ORPHA:478
HP:0000458	Anosmia	1848	DUSP6	ORPHA:478
HP:0000458	Anosmia	6870	TACR3	ORPHA:478
HP:0000458	Anosmia	5191	PEX7	OMIM:614879
HP:0007617	Fine, reticulate skin pigmentation	26277	TINF2	OMIM:268130
HP:0007618	Subcutaneous calcification	7486	WRN	OMIM:277700
HP:0007618	Subcutaneous calcification	7486	WRN	ORPHA:902
HP:0007618	Subcutaneous calcification	4000	LMNA	ORPHA:79474
HP:0007618	Subcutaneous calcification	8074	FGF23	OMIM:617993
HP:0007618	Subcutaneous calcification	5702	PSMC3	OMIM:619354
HP:0010676	Mechanical ileus	6572	SLC18A3	OMIM:617239
HP:0010676	Mechanical ileus	2984	GUCY2C	OMIM:614665
HP:0010676	Mechanical ileus	6804	STX1A	ORPHA:586
HP:0010676	Mechanical ileus	2947	GSTM3	ORPHA:586
HP:0010676	Mechanical ileus	7040	TGFB1	ORPHA:586
HP:0010676	Mechanical ileus	7040	TGFB1	OMIM:219700
HP:0010676	Mechanical ileus	2729	GCLC	ORPHA:586
HP:0010676	Mechanical ileus	1084	CEACAM3	ORPHA:586
HP:0010676	Mechanical ileus	6556	SLC11A1	ORPHA:586
HP:0010676	Mechanical ileus	51164	DCTN4	ORPHA:586
HP:0010676	Mechanical ileus	3783	KCNN4	ORPHA:586
HP:0010676	Mechanical ileus	4282	MIF	ORPHA:586
HP:0010676	Mechanical ileus	1909	EDNRA	ORPHA:586
HP:0010676	Mechanical ileus	6550	SLC9A3	ORPHA:586
HP:0010676	Mechanical ileus	3162	HMOX1	ORPHA:586
HP:0010676	Mechanical ileus	115019	SLC26A9	ORPHA:586
HP:0010676	Mechanical ileus	3077	HFE	ORPHA:586
HP:0010676	Mechanical ileus	11254	SLC6A14	ORPHA:586
HP:0010676	Mechanical ileus	5265	SERPINA1	ORPHA:586
HP:0010676	Mechanical ileus	1080	CFTR	ORPHA:586
HP:0010676	Mechanical ileus	1080	CFTR	OMIM:219700
HP:0010676	Mechanical ileus	22802	CLCA4	ORPHA:586
HP:0010676	Mechanical ileus	4680	CEACAM6	ORPHA:586
HP:0010676	Mechanical ileus	2212	FCGR2A	OMIM:219700
HP:0010674	Abnormal curvature of the vertebral column	5290	PIK3CA	ORPHA:276280
HP:0010674	Abnormal curvature of the vertebral column	5290	PIK3CA	OMIM:612918
HP:0010674	Abnormal curvature of the vertebral column	5290	PIK3CA	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	5290	PIK3CA	OMIM:615108
HP:0010674	Abnormal curvature of the vertebral column	26235	FBXL4	OMIM:615471
HP:0010674	Abnormal curvature of the vertebral column	6910	TBX5	ORPHA:392
HP:0010674	Abnormal curvature of the vertebral column	51399	TRAPPC4	OMIM:618741
HP:0010674	Abnormal curvature of the vertebral column	8216	LZTR1	OMIM:616564
HP:0010674	Abnormal curvature of the vertebral column	8216	LZTR1	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	134701	RIPPLY2	OMIM:616566
HP:0010674	Abnormal curvature of the vertebral column	134701	RIPPLY2	ORPHA:2311
HP:0010674	Abnormal curvature of the vertebral column	4897	NRCAM	OMIM:619833
HP:0010674	Abnormal curvature of the vertebral column	1134	CHRNA1	OMIM:608930
HP:0010674	Abnormal curvature of the vertebral column	1134	CHRNA1	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	1131	CHRM3	ORPHA:2970
HP:0010674	Abnormal curvature of the vertebral column	10159	ATP6AP2	ORPHA:93952
HP:0010674	Abnormal curvature of the vertebral column	55209	SETD5	ORPHA:404440
HP:0010674	Abnormal curvature of the vertebral column	55209	SETD5	OMIM:615761
HP:0010674	Abnormal curvature of the vertebral column	6687	SPG7	ORPHA:99013
HP:0010674	Abnormal curvature of the vertebral column	6687	SPG7	OMIM:607259
HP:0010674	Abnormal curvature of the vertebral column	5631	PRPS1	ORPHA:99014
HP:0010674	Abnormal curvature of the vertebral column	9578	CDC42BPB	OMIM:619841
HP:0010674	Abnormal curvature of the vertebral column	80816	ASXL3	OMIM:615485
HP:0010674	Abnormal curvature of the vertebral column	80816	ASXL3	ORPHA:352577
HP:0010674	Abnormal curvature of the vertebral column	23322	RPGRIP1L	ORPHA:220497
HP:0010674	Abnormal curvature of the vertebral column	23322	RPGRIP1L	ORPHA:1454
HP:0010674	Abnormal curvature of the vertebral column	23322	RPGRIP1L	OMIM:611560
HP:0010674	Abnormal curvature of the vertebral column	4867	NPHP1	ORPHA:220497
HP:0010674	Abnormal curvature of the vertebral column	65062	TMEM237	ORPHA:220497
HP:0010674	Abnormal curvature of the vertebral column	65062	TMEM237	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	65062	TMEM237	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	27245	AHDC1	ORPHA:412069
HP:0010674	Abnormal curvature of the vertebral column	166378	AFG2A	OMIM:616577
HP:0010674	Abnormal curvature of the vertebral column	7532	YWHAG	OMIM:617665
HP:0010674	Abnormal curvature of the vertebral column	84466	MEGF10	OMIM:614399
HP:0010674	Abnormal curvature of the vertebral column	54806	AHI1	ORPHA:220493
HP:0010674	Abnormal curvature of the vertebral column	54806	AHI1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	56623	INPP5E	ORPHA:220493
HP:0010674	Abnormal curvature of the vertebral column	56623	INPP5E	ORPHA:1454
HP:0010674	Abnormal curvature of the vertebral column	56623	INPP5E	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	153241	CEP120	ORPHA:220493
HP:0010674	Abnormal curvature of the vertebral column	153241	CEP120	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	54903	MKS1	ORPHA:220493
HP:0010674	Abnormal curvature of the vertebral column	54903	MKS1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	95681	CEP41	ORPHA:220493
HP:0010674	Abnormal curvature of the vertebral column	95681	CEP41	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	84197	POMK	OMIM:615249
HP:0010674	Abnormal curvature of the vertebral column	2132	EXT2	ORPHA:466926
HP:0010674	Abnormal curvature of the vertebral column	2132	EXT2	OMIM:616682
HP:0010674	Abnormal curvature of the vertebral column	51112	TRAPPC12	OMIM:617669
HP:0010674	Abnormal curvature of the vertebral column	51112	TRAPPC12	ORPHA:500144
HP:0010674	Abnormal curvature of the vertebral column	55768	NGLY1	ORPHA:404454
HP:0010674	Abnormal curvature of the vertebral column	55768	NGLY1	OMIM:615273
HP:0010674	Abnormal curvature of the vertebral column	55636	CHD7	ORPHA:138
HP:0010674	Abnormal curvature of the vertebral column	55636	CHD7	OMIM:214800
HP:0010674	Abnormal curvature of the vertebral column	9723	SEMA3E	ORPHA:138
HP:0010674	Abnormal curvature of the vertebral column	4625	MYH7	OMIM:160500
HP:0010674	Abnormal curvature of the vertebral column	4625	MYH7	ORPHA:324604
HP:0010674	Abnormal curvature of the vertebral column	4625	MYH7	OMIM:255160
HP:0010674	Abnormal curvature of the vertebral column	4625	MYH7	ORPHA:59135
HP:0010674	Abnormal curvature of the vertebral column	90	ACVR1	OMIM:135100
HP:0010674	Abnormal curvature of the vertebral column	6023	RMRP	ORPHA:175
HP:0010674	Abnormal curvature of the vertebral column	6023	RMRP	OMIM:250250
HP:0010674	Abnormal curvature of the vertebral column	1513	CTSK	OMIM:265800
HP:0010674	Abnormal curvature of the vertebral column	1513	CTSK	ORPHA:763
HP:0010674	Abnormal curvature of the vertebral column	55154	MSTO1	OMIM:617675
HP:0010674	Abnormal curvature of the vertebral column	55154	MSTO1	ORPHA:502423
HP:0010674	Abnormal curvature of the vertebral column	54453	RIN2	OMIM:613075
HP:0010674	Abnormal curvature of the vertebral column	54453	RIN2	ORPHA:217335
HP:0010674	Abnormal curvature of the vertebral column	79029	AFG2B	OMIM:619616
HP:0010674	Abnormal curvature of the vertebral column	3064	HTT	OMIM:617435
HP:0010674	Abnormal curvature of the vertebral column	81857	MED25	ORPHA:464738
HP:0010674	Abnormal curvature of the vertebral column	81857	MED25	OMIM:616449
HP:0010674	Abnormal curvature of the vertebral column	3572	IL6ST	OMIM:618523
HP:0010674	Abnormal curvature of the vertebral column	3572	IL6ST	OMIM:619751
HP:0010674	Abnormal curvature of the vertebral column	3572	IL6ST	OMIM:619752
HP:0010674	Abnormal curvature of the vertebral column	3572	IL6ST	OMIM:619750
HP:0010674	Abnormal curvature of the vertebral column	4604	MYBPC1	OMIM:618524
HP:0010674	Abnormal curvature of the vertebral column	4620	MYH2	OMIM:605637
HP:0010674	Abnormal curvature of the vertebral column	10484	SEC23A	OMIM:607812
HP:0010674	Abnormal curvature of the vertebral column	10484	SEC23A	ORPHA:50814
HP:0010674	Abnormal curvature of the vertebral column	5159	PDGFRB	OMIM:616592
HP:0010674	Abnormal curvature of the vertebral column	5159	PDGFRB	OMIM:601812
HP:0010674	Abnormal curvature of the vertebral column	5528	PPP2R5D	OMIM:616355
HP:0010674	Abnormal curvature of the vertebral column	5528	PPP2R5D	ORPHA:457279
HP:0010674	Abnormal curvature of the vertebral column	28514	DLL1	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	28514	DLL1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	28514	DLL1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	28514	DLL1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	28514	DLL1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	2253	FGF8	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	2253	FGF8	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	2253	FGF8	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	2253	FGF8	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	2253	FGF8	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	OMIM:157170
HP:0010674	Abnormal curvature of the vertebral column	6496	SIX3	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	7050	TGIF1	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	7050	TGIF1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	7050	TGIF1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	7050	TGIF1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	7050	TGIF1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	4838	NODAL	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	4838	NODAL	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	4838	NODAL	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	4838	NODAL	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	4838	NODAL	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	6469	SHH	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	6469	SHH	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	6469	SHH	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	6469	SHH	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	6469	SHH	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	7546	ZIC2	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	7546	ZIC2	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	7546	ZIC2	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	7546	ZIC2	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	7546	ZIC2	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	6491	STIL	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	6491	STIL	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	6491	STIL	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	6491	STIL	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	2619	GAS1	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	2619	GAS1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	2619	GAS1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	2619	GAS1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	2619	GAS1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	84976	DISP1	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	84976	DISP1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	84976	DISP1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	84976	DISP1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	84976	DISP1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	2736	GLI2	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	2736	GLI2	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	2736	GLI2	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	2736	GLI2	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	2736	GLI2	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	8928	FOXH1	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	8928	FOXH1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	8928	FOXH1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	8928	FOXH1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	8928	FOXH1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	50937	CDON	ORPHA:93926
HP:0010674	Abnormal curvature of the vertebral column	50937	CDON	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	50937	CDON	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	50937	CDON	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	50937	CDON	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	2260	FGFR1	ORPHA:93924
HP:0010674	Abnormal curvature of the vertebral column	2260	FGFR1	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	2260	FGFR1	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	2260	FGFR1	ORPHA:2645
HP:0010674	Abnormal curvature of the vertebral column	23007	PLCH1	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	10735	STAG2	ORPHA:93925
HP:0010674	Abnormal curvature of the vertebral column	10735	STAG2	OMIM:301022
HP:0010674	Abnormal curvature of the vertebral column	10735	STAG2	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	6905	TBCE	OMIM:617207
HP:0010674	Abnormal curvature of the vertebral column	6905	TBCE	ORPHA:496756
HP:0010674	Abnormal curvature of the vertebral column	4747	NEFL	ORPHA:101085
HP:0010674	Abnormal curvature of the vertebral column	4747	NEFL	OMIM:607684
HP:0010674	Abnormal curvature of the vertebral column	81794	ADAMTS10	OMIM:277600
HP:0010674	Abnormal curvature of the vertebral column	6445	SGCG	ORPHA:353
HP:0010674	Abnormal curvature of the vertebral column	6445	SGCG	OMIM:253700
HP:0010674	Abnormal curvature of the vertebral column	79659	DYNC2H1	OMIM:613091
HP:0010674	Abnormal curvature of the vertebral column	5518	PPP2R1A	OMIM:616362
HP:0010674	Abnormal curvature of the vertebral column	5518	PPP2R1A	ORPHA:457284
HP:0010674	Abnormal curvature of the vertebral column	5034	P4HB	OMIM:112240
HP:0010674	Abnormal curvature of the vertebral column	5034	P4HB	ORPHA:2050
HP:0010674	Abnormal curvature of the vertebral column	51633	OTUD6B	OMIM:617452
HP:0010674	Abnormal curvature of the vertebral column	51633	OTUD6B	ORPHA:505237
HP:0010674	Abnormal curvature of the vertebral column	57167	SALL4	OMIM:147750
HP:0010674	Abnormal curvature of the vertebral column	57167	SALL4	ORPHA:2307
HP:0010674	Abnormal curvature of the vertebral column	57167	SALL4	OMIM:607323
HP:0010674	Abnormal curvature of the vertebral column	3098	HK1	OMIM:618547
HP:0010674	Abnormal curvature of the vertebral column	3098	HK1	OMIM:605285
HP:0010674	Abnormal curvature of the vertebral column	3098	HK1	ORPHA:99953
HP:0010674	Abnormal curvature of the vertebral column	9091	PIGQ	OMIM:618548
HP:0010674	Abnormal curvature of the vertebral column	5728	PTEN	ORPHA:109
HP:0010674	Abnormal curvature of the vertebral column	5728	PTEN	ORPHA:744
HP:0010674	Abnormal curvature of the vertebral column	5728	PTEN	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	5728	PTEN	OMIM:158350
HP:0010674	Abnormal curvature of the vertebral column	5590	PRKCZ	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	2563	GABRD	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	23013	SPEN	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	23013	SPEN	OMIM:619312
HP:0010674	Abnormal curvature of the vertebral column	8510	MMP23B	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	7798	LUZP1	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	6497	SKI	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	6497	SKI	ORPHA:2462
HP:0010674	Abnormal curvature of the vertebral column	6497	SKI	OMIM:182212
HP:0010674	Abnormal curvature of the vertebral column	10630	PDPN	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	10277	UBE4B	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	8514	KCNAB2	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	473	RERE	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	473	RERE	ORPHA:494344
HP:0010674	Abnormal curvature of the vertebral column	473	RERE	OMIM:616975
HP:0010674	Abnormal curvature of the vertebral column	63976	PRDM16	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	54897	CASZ1	ORPHA:1606
HP:0010674	Abnormal curvature of the vertebral column	2705	GJB1	ORPHA:101075
HP:0010674	Abnormal curvature of the vertebral column	2705	GJB1	ORPHA:1175
HP:0010674	Abnormal curvature of the vertebral column	1859	DYRK1A	ORPHA:464311
HP:0010674	Abnormal curvature of the vertebral column	1859	DYRK1A	ORPHA:268261
HP:0010674	Abnormal curvature of the vertebral column	1311	COMP	OMIM:177170
HP:0010674	Abnormal curvature of the vertebral column	1311	COMP	ORPHA:750
HP:0010674	Abnormal curvature of the vertebral column	2990	GUSB	ORPHA:584
HP:0010674	Abnormal curvature of the vertebral column	2990	GUSB	OMIM:253220
HP:0010674	Abnormal curvature of the vertebral column	79718	TBL1XR1	OMIM:602342
HP:0010674	Abnormal curvature of the vertebral column	79718	TBL1XR1	ORPHA:487825
HP:0010674	Abnormal curvature of the vertebral column	55210	ATAD3A	ORPHA:496790
HP:0010674	Abnormal curvature of the vertebral column	55210	ATAD3A	OMIM:617183
HP:0010674	Abnormal curvature of the vertebral column	5605	MAP2K2	OMIM:615280
HP:0010674	Abnormal curvature of the vertebral column	5605	MAP2K2	ORPHA:1340
HP:0010674	Abnormal curvature of the vertebral column	715	C1R	OMIM:130080
HP:0010674	Abnormal curvature of the vertebral column	6305	SBF1	OMIM:615284
HP:0010674	Abnormal curvature of the vertebral column	8818	DPM2	OMIM:615042
HP:0010674	Abnormal curvature of the vertebral column	8818	DPM2	ORPHA:329178
HP:0010674	Abnormal curvature of the vertebral column	83479	DDX59	ORPHA:2919
HP:0010674	Abnormal curvature of the vertebral column	83479	DDX59	OMIM:174300
HP:0010674	Abnormal curvature of the vertebral column	51339	DACT1	OMIM:617466
HP:0010674	Abnormal curvature of the vertebral column	1742	DLG4	OMIM:618793
HP:0010674	Abnormal curvature of the vertebral column	9772	TMEM94	OMIM:618316
HP:0010674	Abnormal curvature of the vertebral column	79971	WLS	OMIM:619648
HP:0010674	Abnormal curvature of the vertebral column	124583	CANT1	OMIM:251450
HP:0010674	Abnormal curvature of the vertebral column	124583	CANT1	ORPHA:1425
HP:0010674	Abnormal curvature of the vertebral column	8643	PTCH2	ORPHA:377
HP:0010674	Abnormal curvature of the vertebral column	51684	SUFU	ORPHA:377
HP:0010674	Abnormal curvature of the vertebral column	51684	SUFU	ORPHA:280200
HP:0010674	Abnormal curvature of the vertebral column	51684	SUFU	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	23299	BICD2	OMIM:615290
HP:0010674	Abnormal curvature of the vertebral column	23299	BICD2	OMIM:618291
HP:0010674	Abnormal curvature of the vertebral column	2239	GPC4	ORPHA:373
HP:0010674	Abnormal curvature of the vertebral column	2239	GPC4	OMIM:312870
HP:0010674	Abnormal curvature of the vertebral column	2719	GPC3	ORPHA:373
HP:0010674	Abnormal curvature of the vertebral column	2719	GPC3	OMIM:312870
HP:0010674	Abnormal curvature of the vertebral column	5354	PLP1	OMIM:312080
HP:0010674	Abnormal curvature of the vertebral column	23483	TGDS	OMIM:616145
HP:0010674	Abnormal curvature of the vertebral column	23483	TGDS	ORPHA:1388
HP:0010674	Abnormal curvature of the vertebral column	2395	FXN	OMIM:229300
HP:0010674	Abnormal curvature of the vertebral column	2395	FXN	ORPHA:95
HP:0010674	Abnormal curvature of the vertebral column	57679	ALS2	OMIM:205100
HP:0010674	Abnormal curvature of the vertebral column	57679	ALS2	OMIM:607225
HP:0010674	Abnormal curvature of the vertebral column	57679	ALS2	ORPHA:300605
HP:0010674	Abnormal curvature of the vertebral column	84168	ANTXR1	OMIM:230740
HP:0010674	Abnormal curvature of the vertebral column	2720	GLB1	OMIM:230500
HP:0010674	Abnormal curvature of the vertebral column	2720	GLB1	OMIM:230600
HP:0010674	Abnormal curvature of the vertebral column	2720	GLB1	OMIM:230650
HP:0010674	Abnormal curvature of the vertebral column	2720	GLB1	OMIM:253010
HP:0010674	Abnormal curvature of the vertebral column	4087	SMAD2	OMIM:619656
HP:0010674	Abnormal curvature of the vertebral column	4087	SMAD2	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	6885	MAP3K7	ORPHA:1826
HP:0010674	Abnormal curvature of the vertebral column	6885	MAP3K7	OMIM:157800
HP:0010674	Abnormal curvature of the vertebral column	6885	MAP3K7	OMIM:617137
HP:0010674	Abnormal curvature of the vertebral column	257	ALX3	ORPHA:391474
HP:0010674	Abnormal curvature of the vertebral column	25970	SH2B1	ORPHA:261197
HP:0010674	Abnormal curvature of the vertebral column	1387	CREBBP	OMIM:618332
HP:0010674	Abnormal curvature of the vertebral column	1387	CREBBP	OMIM:180849
HP:0010674	Abnormal curvature of the vertebral column	26160	IFT172	OMIM:616394
HP:0010674	Abnormal curvature of the vertebral column	58497	PRUNE1	OMIM:617481
HP:0010674	Abnormal curvature of the vertebral column	58497	PRUNE1	ORPHA:544469
HP:0010674	Abnormal curvature of the vertebral column	5881	RAC3	OMIM:618577
HP:0010674	Abnormal curvature of the vertebral column	26173	INTS1	OMIM:618571
HP:0010674	Abnormal curvature of the vertebral column	9427	ECEL1	OMIM:615065
HP:0010674	Abnormal curvature of the vertebral column	3508	IGHMBP2	OMIM:616155
HP:0010674	Abnormal curvature of the vertebral column	5888	RAD51	OMIM:617244
HP:0010674	Abnormal curvature of the vertebral column	5888	RAD51	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	55151	TMEM38B	OMIM:615066
HP:0010674	Abnormal curvature of the vertebral column	4212	MEIS2	ORPHA:261190
HP:0010674	Abnormal curvature of the vertebral column	2583	B4GALNT1	OMIM:609195
HP:0010674	Abnormal curvature of the vertebral column	2583	B4GALNT1	ORPHA:101006
HP:0010674	Abnormal curvature of the vertebral column	7227	TRPS1	OMIM:190350
HP:0010674	Abnormal curvature of the vertebral column	7227	TRPS1	OMIM:190351
HP:0010674	Abnormal curvature of the vertebral column	7227	TRPS1	ORPHA:77258
HP:0010674	Abnormal curvature of the vertebral column	7046	TGFBR1	OMIM:609192
HP:0010674	Abnormal curvature of the vertebral column	7046	TGFBR1	ORPHA:60030
HP:0010674	Abnormal curvature of the vertebral column	7046	TGFBR1	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	5426	POLE	OMIM:618336
HP:0010674	Abnormal curvature of the vertebral column	5081	PAX7	OMIM:618578
HP:0010674	Abnormal curvature of the vertebral column	389827	MYMK	OMIM:254940
HP:0010674	Abnormal curvature of the vertebral column	389827	MYMK	ORPHA:1358
HP:0010674	Abnormal curvature of the vertebral column	7273	TTN	OMIM:611705
HP:0010674	Abnormal curvature of the vertebral column	7273	TTN	ORPHA:324604
HP:0010674	Abnormal curvature of the vertebral column	2617	GARS1	OMIM:601472
HP:0010674	Abnormal curvature of the vertebral column	2617	GARS1	OMIM:619042
HP:0010674	Abnormal curvature of the vertebral column	7291	TWIST1	ORPHA:794
HP:0010674	Abnormal curvature of the vertebral column	2263	FGFR2	ORPHA:794
HP:0010674	Abnormal curvature of the vertebral column	2263	FGFR2	ORPHA:2363
HP:0010674	Abnormal curvature of the vertebral column	2261	FGFR3	ORPHA:794
HP:0010674	Abnormal curvature of the vertebral column	2261	FGFR3	ORPHA:2363
HP:0010674	Abnormal curvature of the vertebral column	2261	FGFR3	ORPHA:429
HP:0010674	Abnormal curvature of the vertebral column	2261	FGFR3	ORPHA:85164
HP:0010674	Abnormal curvature of the vertebral column	2261	FGFR3	OMIM:610474
HP:0010674	Abnormal curvature of the vertebral column	4088	SMAD3	ORPHA:284984
HP:0010674	Abnormal curvature of the vertebral column	4088	SMAD3	OMIM:613795
HP:0010674	Abnormal curvature of the vertebral column	4088	SMAD3	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	9361	LONP1	OMIM:600373
HP:0010674	Abnormal curvature of the vertebral column	9361	LONP1	ORPHA:1458
HP:0010674	Abnormal curvature of the vertebral column	4921	DDR2	OMIM:271665
HP:0010674	Abnormal curvature of the vertebral column	51574	LARP7	OMIM:615071
HP:0010674	Abnormal curvature of the vertebral column	51574	LARP7	ORPHA:319671
HP:0010674	Abnormal curvature of the vertebral column	65992	DDRGK1	OMIM:602557
HP:0010674	Abnormal curvature of the vertebral column	65992	DDRGK1	ORPHA:93352
HP:0010674	Abnormal curvature of the vertebral column	10059	DNM1L	ORPHA:330050
HP:0010674	Abnormal curvature of the vertebral column	6448	SGSH	OMIM:252900
HP:0010674	Abnormal curvature of the vertebral column	6134	RPL10	OMIM:300998
HP:0010674	Abnormal curvature of the vertebral column	6134	RPL10	ORPHA:459070
HP:0010674	Abnormal curvature of the vertebral column	1499	CTNNB1	OMIM:615075
HP:0010674	Abnormal curvature of the vertebral column	1291	COL6A1	OMIM:254090
HP:0010674	Abnormal curvature of the vertebral column	1291	COL6A1	ORPHA:75840
HP:0010674	Abnormal curvature of the vertebral column	1291	COL6A1	ORPHA:610
HP:0010674	Abnormal curvature of the vertebral column	1292	COL6A2	OMIM:254090
HP:0010674	Abnormal curvature of the vertebral column	1292	COL6A2	ORPHA:75840
HP:0010674	Abnormal curvature of the vertebral column	1292	COL6A2	ORPHA:610
HP:0010674	Abnormal curvature of the vertebral column	1293	COL6A3	OMIM:254090
HP:0010674	Abnormal curvature of the vertebral column	1293	COL6A3	ORPHA:75840
HP:0010674	Abnormal curvature of the vertebral column	1293	COL6A3	ORPHA:610
HP:0010674	Abnormal curvature of the vertebral column	56896	DPYSL5	OMIM:619435
HP:0010674	Abnormal curvature of the vertebral column	23516	SLC39A14	OMIM:617013
HP:0010674	Abnormal curvature of the vertebral column	23516	SLC39A14	ORPHA:521406
HP:0010674	Abnormal curvature of the vertebral column	8573	CASK	OMIM:300749
HP:0010674	Abnormal curvature of the vertebral column	8573	CASK	ORPHA:163937
HP:0010674	Abnormal curvature of the vertebral column	8573	CASK	OMIM:300422
HP:0010674	Abnormal curvature of the vertebral column	79912	PYROXD1	OMIM:617258
HP:0010674	Abnormal curvature of the vertebral column	5428	POLG	OMIM:258450
HP:0010674	Abnormal curvature of the vertebral column	5428	POLG	OMIM:203700
HP:0010674	Abnormal curvature of the vertebral column	4703	NEB	OMIM:256030
HP:0010674	Abnormal curvature of the vertebral column	4703	NEB	ORPHA:171436
HP:0010674	Abnormal curvature of the vertebral column	4703	NEB	ORPHA:171439
HP:0010674	Abnormal curvature of the vertebral column	7681	MKRN3	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	3653	IPW	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	ORPHA:398069
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	ORPHA:98754
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	ORPHA:177904
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	ORPHA:177901
HP:0010674	Abnormal curvature of the vertebral column	54551	MAGEL2	OMIM:615547
HP:0010674	Abnormal curvature of the vertebral column	791114	PWRN1	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	100033413	SNORD116-1	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	8924	HERC2	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	145624	PWAR1	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	23742	NPAP1	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	338433	SNORD115-1	OMIM:176270
HP:0010674	Abnormal curvature of the vertebral column	6442	SGCA	OMIM:608099
HP:0010674	Abnormal curvature of the vertebral column	128869	PIGU	OMIM:618590
HP:0010674	Abnormal curvature of the vertebral column	4054	LTBP3	OMIM:601216
HP:0010674	Abnormal curvature of the vertebral column	2972	BRF1	ORPHA:444072
HP:0010674	Abnormal curvature of the vertebral column	2972	BRF1	OMIM:616202
HP:0010674	Abnormal curvature of the vertebral column	6492	SIM1	ORPHA:398079
HP:0010674	Abnormal curvature of the vertebral column	112939	NACC1	ORPHA:500545
HP:0010674	Abnormal curvature of the vertebral column	112939	NACC1	OMIM:617393
HP:0010674	Abnormal curvature of the vertebral column	51114	ZDHHC9	ORPHA:776
HP:0010674	Abnormal curvature of the vertebral column	65109	UPF3B	ORPHA:776
HP:0010674	Abnormal curvature of the vertebral column	65109	UPF3B	OMIM:300676
HP:0010674	Abnormal curvature of the vertebral column	9968	MED12	ORPHA:776
HP:0010674	Abnormal curvature of the vertebral column	9968	MED12	OMIM:300895
HP:0010674	Abnormal curvature of the vertebral column	4952	OCRL	ORPHA:534
HP:0010674	Abnormal curvature of the vertebral column	4952	OCRL	OMIM:309000
HP:0010674	Abnormal curvature of the vertebral column	427	ASAH1	OMIM:159950
HP:0010674	Abnormal curvature of the vertebral column	427	ASAH1	ORPHA:2590
HP:0010674	Abnormal curvature of the vertebral column	29925	GMPPB	ORPHA:370968
HP:0010674	Abnormal curvature of the vertebral column	29925	GMPPB	ORPHA:353327
HP:0010674	Abnormal curvature of the vertebral column	29954	POMT2	ORPHA:370968
HP:0010674	Abnormal curvature of the vertebral column	29954	POMT2	OMIM:613150
HP:0010674	Abnormal curvature of the vertebral column	29954	POMT2	OMIM:613156
HP:0010674	Abnormal curvature of the vertebral column	9215	LARGE1	ORPHA:370968
HP:0010674	Abnormal curvature of the vertebral column	7337	UBE3A	ORPHA:98794
HP:0010674	Abnormal curvature of the vertebral column	7337	UBE3A	OMIM:105830
HP:0010674	Abnormal curvature of the vertebral column	4948	OCA2	ORPHA:98794
HP:0010674	Abnormal curvature of the vertebral column	4948	OCA2	ORPHA:98754
HP:0010674	Abnormal curvature of the vertebral column	4948	OCA2	ORPHA:177904
HP:0010674	Abnormal curvature of the vertebral column	4948	OCA2	ORPHA:177901
HP:0010674	Abnormal curvature of the vertebral column	55777	MBD5	OMIM:156200
HP:0010674	Abnormal curvature of the vertebral column	23005	MAPKBP1	OMIM:617271
HP:0010674	Abnormal curvature of the vertebral column	7084	TK2	ORPHA:254875
HP:0010674	Abnormal curvature of the vertebral column	84340	GFM2	ORPHA:565624
HP:0010674	Abnormal curvature of the vertebral column	84340	GFM2	OMIM:618397
HP:0010674	Abnormal curvature of the vertebral column	8888	MCM3AP	OMIM:618124
HP:0010674	Abnormal curvature of the vertebral column	153642	ARSK	OMIM:619698
HP:0010674	Abnormal curvature of the vertebral column	3549	IHH	ORPHA:63446
HP:0010674	Abnormal curvature of the vertebral column	3549	IHH	ORPHA:93388
HP:0010674	Abnormal curvature of the vertebral column	3549	IHH	OMIM:607778
HP:0010674	Abnormal curvature of the vertebral column	6601	SMARCC2	OMIM:618362
HP:0010674	Abnormal curvature of the vertebral column	6601	SMARCC2	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	4052	LTBP1	OMIM:619451
HP:0010674	Abnormal curvature of the vertebral column	3756	KCNH1	OMIM:135500
HP:0010674	Abnormal curvature of the vertebral column	201163	FLCN	OMIM:610883
HP:0010674	Abnormal curvature of the vertebral column	51608	GET4	OMIM:620200
HP:0010674	Abnormal curvature of the vertebral column	1312	COMT	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	221037	JMJD1C	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	2812	GP1BB	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	6239	RREB1	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	6899	TBX1	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	6899	TBX1	ORPHA:1727
HP:0010674	Abnormal curvature of the vertebral column	6899	TBX1	OMIM:188400
HP:0010674	Abnormal curvature of the vertebral column	7290	HIRA	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	9632	SEC24C	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	7353	UFD1	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	421	ARVCF	ORPHA:567
HP:0010674	Abnormal curvature of the vertebral column	7136	TNNI2	OMIM:601680
HP:0010674	Abnormal curvature of the vertebral column	7136	TNNI2	ORPHA:1147
HP:0010674	Abnormal curvature of the vertebral column	2778	GNAS	ORPHA:562
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	OMIM:130060
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	OMIM:166220
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	ORPHA:1899
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	ORPHA:287
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	OMIM:259420
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	OMIM:619115
HP:0010674	Abnormal curvature of the vertebral column	1277	COL1A1	ORPHA:1310
HP:0010674	Abnormal curvature of the vertebral column	1760	DMPK	ORPHA:589821
HP:0010674	Abnormal curvature of the vertebral column	11342	RNF13	OMIM:618379
HP:0010674	Abnormal curvature of the vertebral column	11342	RNF13	ORPHA:544503
HP:0010674	Abnormal curvature of the vertebral column	80821	DDHD1	ORPHA:101008
HP:0010674	Abnormal curvature of the vertebral column	80821	DDHD1	OMIM:609340
HP:0010674	Abnormal curvature of the vertebral column	3188	HNRNPH2	OMIM:300986
HP:0010674	Abnormal curvature of the vertebral column	6304	SATB1	OMIM:619229
HP:0010674	Abnormal curvature of the vertebral column	64374	SIL1	ORPHA:559
HP:0010674	Abnormal curvature of the vertebral column	64374	SIL1	OMIM:248800
HP:0010674	Abnormal curvature of the vertebral column	51763	INPP5K	ORPHA:559
HP:0010674	Abnormal curvature of the vertebral column	51763	INPP5K	OMIM:617404
HP:0010674	Abnormal curvature of the vertebral column	4927	NUP88	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	7846	TUBA1A	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	4654	MYOD1	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	4593	MUSK	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	4593	MUSK	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	5913	RAPSN	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	5913	RAPSN	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	285489	DOK7	ORPHA:994
HP:0010674	Abnormal curvature of the vertebral column	285489	DOK7	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	9321	TRIP11	ORPHA:166272
HP:0010674	Abnormal curvature of the vertebral column	9321	TRIP11	OMIM:184260
HP:0010674	Abnormal curvature of the vertebral column	55975	KLHL7	OMIM:617055
HP:0010674	Abnormal curvature of the vertebral column	2290	FOXG1	ORPHA:261144
HP:0010674	Abnormal curvature of the vertebral column	2290	FOXG1	OMIM:613454
HP:0010674	Abnormal curvature of the vertebral column	54809	SAMD9	OMIM:617053
HP:0010674	Abnormal curvature of the vertebral column	10526	IPO8	OMIM:619472
HP:0010674	Abnormal curvature of the vertebral column	10526	IPO8	ORPHA:60030
HP:0010674	Abnormal curvature of the vertebral column	2892	GRIA3	ORPHA:364028
HP:0010674	Abnormal curvature of the vertebral column	64840	PORCN	ORPHA:2092
HP:0010674	Abnormal curvature of the vertebral column	64840	PORCN	OMIM:305600
HP:0010674	Abnormal curvature of the vertebral column	94005	PIGS	OMIM:618143
HP:0010674	Abnormal curvature of the vertebral column	6711	SPTBN1	OMIM:619475
HP:0010674	Abnormal curvature of the vertebral column	80036	TRPM3	OMIM:620224
HP:0010674	Abnormal curvature of the vertebral column	92935	MARS2	ORPHA:314603
HP:0010674	Abnormal curvature of the vertebral column	92935	MARS2	OMIM:611390
HP:0010674	Abnormal curvature of the vertebral column	5894	RAF1	ORPHA:500
HP:0010674	Abnormal curvature of the vertebral column	5894	RAF1	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	2317	FLNB	ORPHA:503
HP:0010674	Abnormal curvature of the vertebral column	2317	FLNB	OMIM:272460
HP:0010674	Abnormal curvature of the vertebral column	2317	FLNB	ORPHA:1190
HP:0010674	Abnormal curvature of the vertebral column	2317	FLNB	OMIM:108721
HP:0010674	Abnormal curvature of the vertebral column	2317	FLNB	OMIM:150250
HP:0010674	Abnormal curvature of the vertebral column	11198	SUPT16H	OMIM:619480
HP:0010674	Abnormal curvature of the vertebral column	9829	DNAJC6	ORPHA:391411
HP:0010674	Abnormal curvature of the vertebral column	5420	PODXL	ORPHA:391411
HP:0010674	Abnormal curvature of the vertebral column	8867	SYNJ1	ORPHA:391411
HP:0010674	Abnormal curvature of the vertebral column	2887	GRB10	ORPHA:96182
HP:0010674	Abnormal curvature of the vertebral column	283446	MYO1H	OMIM:619482
HP:0010674	Abnormal curvature of the vertebral column	51360	MBTPS2	OMIM:308205
HP:0010674	Abnormal curvature of the vertebral column	51360	MBTPS2	ORPHA:85284
HP:0010674	Abnormal curvature of the vertebral column	51360	MBTPS2	OMIM:301014
HP:0010674	Abnormal curvature of the vertebral column	1457	CSNK2A1	OMIM:617062
HP:0010674	Abnormal curvature of the vertebral column	7204	TRIO	OMIM:617061
HP:0010674	Abnormal curvature of the vertebral column	7204	TRIO	OMIM:618825
HP:0010674	Abnormal curvature of the vertebral column	7204	TRIO	ORPHA:476126
HP:0010674	Abnormal curvature of the vertebral column	3636	INPPL1	OMIM:258480
HP:0010674	Abnormal curvature of the vertebral column	9325	TRIP4	OMIM:617066
HP:0010674	Abnormal curvature of the vertebral column	9325	TRIP4	ORPHA:486815
HP:0010674	Abnormal curvature of the vertebral column	100147744	RNU7-1	OMIM:619487
HP:0010674	Abnormal curvature of the vertebral column	100147744	RNU7-1	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	6872	TAF1	OMIM:300966
HP:0010674	Abnormal curvature of the vertebral column	8567	MADD	OMIM:619004
HP:0010674	Abnormal curvature of the vertebral column	8567	MADD	OMIM:619005
HP:0010674	Abnormal curvature of the vertebral column	8239	USP9X	OMIM:300968
HP:0010674	Abnormal curvature of the vertebral column	8239	USP9X	ORPHA:480880
HP:0010674	Abnormal curvature of the vertebral column	8318	CDC45	OMIM:617063
HP:0010674	Abnormal curvature of the vertebral column	28952	CCDC22	OMIM:300963
HP:0010674	Abnormal curvature of the vertebral column	28952	CCDC22	ORPHA:7
HP:0010674	Abnormal curvature of the vertebral column	4617	MYF5	OMIM:618155
HP:0010674	Abnormal curvature of the vertebral column	1654	DDX3X	OMIM:300958
HP:0010674	Abnormal curvature of the vertebral column	1654	DDX3X	ORPHA:457260
HP:0010674	Abnormal curvature of the vertebral column	8450	CUL4B	ORPHA:85293
HP:0010674	Abnormal curvature of the vertebral column	26278	SACS	OMIM:270550
HP:0010674	Abnormal curvature of the vertebral column	6748	SSR4	ORPHA:370927
HP:0010674	Abnormal curvature of the vertebral column	6748	SSR4	OMIM:300934
HP:0010674	Abnormal curvature of the vertebral column	10084	PQBP1	OMIM:309500
HP:0010674	Abnormal curvature of the vertebral column	50515	CHST11	OMIM:618167
HP:0010674	Abnormal curvature of the vertebral column	2629	GBA1	ORPHA:2072
HP:0010674	Abnormal curvature of the vertebral column	2193	FARSA	OMIM:619013
HP:0010674	Abnormal curvature of the vertebral column	10491	CRTAP	OMIM:610682
HP:0010674	Abnormal curvature of the vertebral column	23133	PHF8	ORPHA:85287
HP:0010674	Abnormal curvature of the vertebral column	284058	KANSL1	OMIM:610443
HP:0010674	Abnormal curvature of the vertebral column	284058	KANSL1	ORPHA:363958
HP:0010674	Abnormal curvature of the vertebral column	284058	KANSL1	ORPHA:363965
HP:0010674	Abnormal curvature of the vertebral column	5831	PYCR1	ORPHA:2078
HP:0010674	Abnormal curvature of the vertebral column	5831	PYCR1	OMIM:612940
HP:0010674	Abnormal curvature of the vertebral column	779	CACNA1S	OMIM:620246
HP:0010674	Abnormal curvature of the vertebral column	203859	ANO5	ORPHA:53697
HP:0010674	Abnormal curvature of the vertebral column	9897	WASHC5	ORPHA:7
HP:0010674	Abnormal curvature of the vertebral column	64802	NMNAT1	OMIM:619260
HP:0010674	Abnormal curvature of the vertebral column	116150	NUS1	OMIM:617082
HP:0010674	Abnormal curvature of the vertebral column	84842	HPDL	OMIM:619026
HP:0010674	Abnormal curvature of the vertebral column	9927	MFN2	OMIM:617087
HP:0010674	Abnormal curvature of the vertebral column	9927	MFN2	OMIM:601152
HP:0010674	Abnormal curvature of the vertebral column	9927	MFN2	OMIM:609260
HP:0010674	Abnormal curvature of the vertebral column	9927	MFN2	ORPHA:99947
HP:0010674	Abnormal curvature of the vertebral column	375056	MIA3	OMIM:619269
HP:0010674	Abnormal curvature of the vertebral column	5167	ENPP1	ORPHA:758
HP:0010674	Abnormal curvature of the vertebral column	368	ABCC6	ORPHA:758
HP:0010674	Abnormal curvature of the vertebral column	368	ABCC6	OMIM:177850
HP:0010674	Abnormal curvature of the vertebral column	7042	TGFB2	OMIM:614816
HP:0010674	Abnormal curvature of the vertebral column	7042	TGFB2	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	8085	KMT2D	OMIM:147920
HP:0010674	Abnormal curvature of the vertebral column	8085	KMT2D	ORPHA:2322
HP:0010674	Abnormal curvature of the vertebral column	7403	KDM6A	OMIM:147920
HP:0010674	Abnormal curvature of the vertebral column	7403	KDM6A	ORPHA:2322
HP:0010674	Abnormal curvature of the vertebral column	23443	SLC35A3	ORPHA:370943
HP:0010674	Abnormal curvature of the vertebral column	23443	SLC35A3	OMIM:615553
HP:0010674	Abnormal curvature of the vertebral column	2643	GCH1	OMIM:128230
HP:0010674	Abnormal curvature of the vertebral column	2643	GCH1	ORPHA:98808
HP:0010674	Abnormal curvature of the vertebral column	1183	CLCN4	OMIM:300114
HP:0010674	Abnormal curvature of the vertebral column	1183	CLCN4	ORPHA:485350
HP:0010674	Abnormal curvature of the vertebral column	80308	FLAD1	OMIM:255100
HP:0010674	Abnormal curvature of the vertebral column	50484	RRM2B	ORPHA:329336
HP:0010674	Abnormal curvature of the vertebral column	246243	RNASEH1	ORPHA:329336
HP:0010674	Abnormal curvature of the vertebral column	7355	SLC35A2	ORPHA:356961
HP:0010674	Abnormal curvature of the vertebral column	81839	VANGL1	ORPHA:3027
HP:0010674	Abnormal curvature of the vertebral column	80199	FUZ	ORPHA:3027
HP:0010674	Abnormal curvature of the vertebral column	64324	NSD1	ORPHA:821
HP:0010674	Abnormal curvature of the vertebral column	64324	NSD1	OMIM:117550
HP:0010674	Abnormal curvature of the vertebral column	64324	NSD1	ORPHA:3447
HP:0010674	Abnormal curvature of the vertebral column	29072	SETD2	ORPHA:821
HP:0010674	Abnormal curvature of the vertebral column	10297	APC2	ORPHA:821
HP:0010674	Abnormal curvature of the vertebral column	10093	ARPC4	OMIM:620141
HP:0010674	Abnormal curvature of the vertebral column	5447	POR	ORPHA:95699
HP:0010674	Abnormal curvature of the vertebral column	5447	POR	OMIM:201750
HP:0010674	Abnormal curvature of the vertebral column	51506	UFC1	OMIM:618076
HP:0010674	Abnormal curvature of the vertebral column	4552	MTRR	ORPHA:2169
HP:0010674	Abnormal curvature of the vertebral column	224	ALDH3A2	ORPHA:816
HP:0010674	Abnormal curvature of the vertebral column	2314	FLII	ORPHA:819
HP:0010674	Abnormal curvature of the vertebral column	23096	IQSEC2	ORPHA:819
HP:0010674	Abnormal curvature of the vertebral column	10743	RAI1	ORPHA:819
HP:0010674	Abnormal curvature of the vertebral column	10743	RAI1	ORPHA:1713
HP:0010674	Abnormal curvature of the vertebral column	10743	RAI1	OMIM:182290
HP:0010674	Abnormal curvature of the vertebral column	10522	DEAF1	ORPHA:819
HP:0010674	Abnormal curvature of the vertebral column	1717	DHCR7	ORPHA:818
HP:0010674	Abnormal curvature of the vertebral column	4758	NEU1	ORPHA:812
HP:0010674	Abnormal curvature of the vertebral column	55780	ERMARD	ORPHA:75857
HP:0010674	Abnormal curvature of the vertebral column	55780	ERMARD	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	10225	CD96	OMIM:211750
HP:0010674	Abnormal curvature of the vertebral column	4038	LRP4	ORPHA:3258
HP:0010674	Abnormal curvature of the vertebral column	4038	LRP4	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	4038	LRP4	OMIM:212780
HP:0010674	Abnormal curvature of the vertebral column	324	APC	ORPHA:3258
HP:0010674	Abnormal curvature of the vertebral column	84992	PIGY	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	84720	PIGO	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	93210	PGAP3	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	284098	PIGW	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	27315	PGAP2	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	27315	PGAP2	OMIM:614207
HP:0010674	Abnormal curvature of the vertebral column	55650	PIGV	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	9487	PIGL	ORPHA:247262
HP:0010674	Abnormal curvature of the vertebral column	4001	LMNB1	OMIM:619179
HP:0010674	Abnormal curvature of the vertebral column	5119	CHMP1A	OMIM:614961
HP:0010674	Abnormal curvature of the vertebral column	23522	KAT6B	OMIM:606170
HP:0010674	Abnormal curvature of the vertebral column	93627	TBCK	OMIM:616900
HP:0010674	Abnormal curvature of the vertebral column	93627	TBCK	ORPHA:488632
HP:0010674	Abnormal curvature of the vertebral column	5238	PGM3	OMIM:615816
HP:0010674	Abnormal curvature of the vertebral column	672	BRCA1	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	10459	MAD2L2	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	7516	XRCC2	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	29089	UBE2T	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	675	BRCA2	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	55120	FANCL	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2177	FANCD2	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2175	FANCA	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2187	FANCB	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2176	FANCC	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2178	FANCE	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2188	FANCF	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2189	FANCG	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	5889	RAD51C	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	55159	RFWD3	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	83990	BRIP1	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	57697	FANCM	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	79728	PALB2	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	84464	SLX4	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2072	ERCC4	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	2072	ERCC4	ORPHA:90321
HP:0010674	Abnormal curvature of the vertebral column	2072	ERCC4	OMIM:610965
HP:0010674	Abnormal curvature of the vertebral column	2072	ERCC4	OMIM:278760
HP:0010674	Abnormal curvature of the vertebral column	55215	FANCI	ORPHA:84
HP:0010674	Abnormal curvature of the vertebral column	823	CAPN1	OMIM:616907
HP:0010674	Abnormal curvature of the vertebral column	823	CAPN1	ORPHA:488594
HP:0010674	Abnormal curvature of the vertebral column	222663	SCUBE3	OMIM:619184
HP:0010674	Abnormal curvature of the vertebral column	7274	TTPA	ORPHA:96
HP:0010674	Abnormal curvature of the vertebral column	57531	HACE1	ORPHA:464282
HP:0010674	Abnormal curvature of the vertebral column	57531	HACE1	OMIM:616756
HP:0010674	Abnormal curvature of the vertebral column	9839	ZEB2	ORPHA:261552
HP:0010674	Abnormal curvature of the vertebral column	9839	ZEB2	ORPHA:261537
HP:0010674	Abnormal curvature of the vertebral column	1641	DCX	ORPHA:2148
HP:0010674	Abnormal curvature of the vertebral column	11160	ERLIN2	OMIM:611225
HP:0010674	Abnormal curvature of the vertebral column	25942	SIN3A	OMIM:613406
HP:0010674	Abnormal curvature of the vertebral column	25942	SIN3A	ORPHA:94065
HP:0010674	Abnormal curvature of the vertebral column	175	AGA	ORPHA:93
HP:0010674	Abnormal curvature of the vertebral column	175	AGA	OMIM:208400
HP:0010674	Abnormal curvature of the vertebral column	53834	FGFRL1	OMIM:194190
HP:0010674	Abnormal curvature of the vertebral column	1487	CTBP1	OMIM:194190
HP:0010674	Abnormal curvature of the vertebral column	1487	CTBP1	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	3954	LETM1	OMIM:194190
HP:0010674	Abnormal curvature of the vertebral column	3954	LETM1	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	7468	NSD2	OMIM:194190
HP:0010674	Abnormal curvature of the vertebral column	7468	NSD2	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	10815	CPLX1	OMIM:194190
HP:0010674	Abnormal curvature of the vertebral column	10815	CPLX1	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	113278	SLC52A3	OMIM:211530
HP:0010674	Abnormal curvature of the vertebral column	3425	IDUA	OMIM:607015
HP:0010674	Abnormal curvature of the vertebral column	3425	IDUA	ORPHA:93473
HP:0010674	Abnormal curvature of the vertebral column	3192	HNRNPU	ORPHA:238769
HP:0010674	Abnormal curvature of the vertebral column	9653	HS2ST1	OMIM:619194
HP:0010674	Abnormal curvature of the vertebral column	1798	DPAGT1	ORPHA:86309
HP:0010674	Abnormal curvature of the vertebral column	1798	DPAGT1	OMIM:614750
HP:0010674	Abnormal curvature of the vertebral column	1798	DPAGT1	ORPHA:353327
HP:0010674	Abnormal curvature of the vertebral column	6135	RPL11	OMIM:612562
HP:0010674	Abnormal curvature of the vertebral column	91754	NEK9	ORPHA:64754
HP:0010674	Abnormal curvature of the vertebral column	26053	AUTS2	OMIM:615834
HP:0010674	Abnormal curvature of the vertebral column	26053	AUTS2	ORPHA:352490
HP:0010674	Abnormal curvature of the vertebral column	10056	FARSB	OMIM:613658
HP:0010674	Abnormal curvature of the vertebral column	54499	TMCO1	OMIM:213980
HP:0010674	Abnormal curvature of the vertebral column	54499	TMCO1	ORPHA:1394
HP:0010674	Abnormal curvature of the vertebral column	4094	MAF	ORPHA:1272
HP:0010674	Abnormal curvature of the vertebral column	23261	CAMTA1	OMIM:614756
HP:0010674	Abnormal curvature of the vertebral column	2255	FGF10	ORPHA:2363
HP:0010674	Abnormal curvature of the vertebral column	55906	ZC4H2	ORPHA:3454
HP:0010674	Abnormal curvature of the vertebral column	55906	ZC4H2	OMIM:301041
HP:0010674	Abnormal curvature of the vertebral column	55906	ZC4H2	OMIM:314580
HP:0010674	Abnormal curvature of the vertebral column	6638	SNRPN	ORPHA:98754
HP:0010674	Abnormal curvature of the vertebral column	6638	SNRPN	ORPHA:177904
HP:0010674	Abnormal curvature of the vertebral column	6638	SNRPN	ORPHA:177901
HP:0010674	Abnormal curvature of the vertebral column	6638	SNRPN	ORPHA:177907
HP:0010674	Abnormal curvature of the vertebral column	6638	SNRPN	OMIM:105830
HP:0010674	Abnormal curvature of the vertebral column	4692	NDN	ORPHA:98754
HP:0010674	Abnormal curvature of the vertebral column	4692	NDN	ORPHA:177904
HP:0010674	Abnormal curvature of the vertebral column	4692	NDN	ORPHA:177901
HP:0010674	Abnormal curvature of the vertebral column	3481	IGF2	ORPHA:2128
HP:0010674	Abnormal curvature of the vertebral column	10984	KCNQ1OT1	ORPHA:2128
HP:0010674	Abnormal curvature of the vertebral column	283120	H19	ORPHA:2128
HP:0010674	Abnormal curvature of the vertebral column	2535	FZD2	OMIM:164745
HP:0010674	Abnormal curvature of the vertebral column	2535	FZD2	ORPHA:3107
HP:0010674	Abnormal curvature of the vertebral column	3977	LIFR	ORPHA:3206
HP:0010674	Abnormal curvature of the vertebral column	3977	LIFR	OMIM:601559
HP:0010674	Abnormal curvature of the vertebral column	55325	UFSP2	ORPHA:2114
HP:0010674	Abnormal curvature of the vertebral column	55275	VPS53	OMIM:615851
HP:0010674	Abnormal curvature of the vertebral column	2146	EZH2	OMIM:277590
HP:0010674	Abnormal curvature of the vertebral column	2146	EZH2	ORPHA:3447
HP:0010674	Abnormal curvature of the vertebral column	7048	TGFBR2	OMIM:610168
HP:0010674	Abnormal curvature of the vertebral column	7048	TGFBR2	ORPHA:60030
HP:0010674	Abnormal curvature of the vertebral column	7048	TGFBR2	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	545	ATR	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	545	ATR	OMIM:210600
HP:0010674	Abnormal curvature of the vertebral column	1062	CENPE	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	5116	PCNT	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	5116	PCNT	ORPHA:2637
HP:0010674	Abnormal curvature of the vertebral column	5932	RBBP8	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	79902	NUP85	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	84126	ATRIP	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	55835	CENPJ	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	10293	TRAIP	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	22995	CEP152	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	22995	CEP152	OMIM:613823
HP:0010674	Abnormal curvature of the vertebral column	10733	PLK4	ORPHA:808
HP:0010674	Abnormal curvature of the vertebral column	10733	PLK4	ORPHA:2518
HP:0010674	Abnormal curvature of the vertebral column	5048	PAFAH1B1	ORPHA:95232
HP:0010674	Abnormal curvature of the vertebral column	147372	CCBE1	OMIM:235510
HP:0010674	Abnormal curvature of the vertebral column	80324	PUS1	ORPHA:2598
HP:0010674	Abnormal curvature of the vertebral column	51067	YARS2	ORPHA:2598
HP:0010674	Abnormal curvature of the vertebral column	8726	EED	ORPHA:3447
HP:0010674	Abnormal curvature of the vertebral column	8726	EED	OMIM:617561
HP:0010674	Abnormal curvature of the vertebral column	23512	SUZ12	ORPHA:3447
HP:0010674	Abnormal curvature of the vertebral column	84667	HES7	OMIM:613686
HP:0010674	Abnormal curvature of the vertebral column	84667	HES7	ORPHA:2311
HP:0010674	Abnormal curvature of the vertebral column	9573	GDF3	ORPHA:2345
HP:0010674	Abnormal curvature of the vertebral column	392255	GDF6	ORPHA:2345
HP:0010674	Abnormal curvature of the vertebral column	392255	GDF6	OMIM:118100
HP:0010674	Abnormal curvature of the vertebral column	4222	MEOX1	ORPHA:2345
HP:0010674	Abnormal curvature of the vertebral column	4222	MEOX1	OMIM:214300
HP:0010674	Abnormal curvature of the vertebral column	22907	DHX30	OMIM:617804
HP:0010674	Abnormal curvature of the vertebral column	57165	GJC2	OMIM:613206
HP:0010674	Abnormal curvature of the vertebral column	3798	KIF5A	OMIM:604187
HP:0010674	Abnormal curvature of the vertebral column	3798	KIF5A	ORPHA:100991
HP:0010674	Abnormal curvature of the vertebral column	10535	RNASEH2A	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	84153	RNASEH2C	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	25939	SAMHD1	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	79621	RNASEH2B	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	103	ADAR	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	11277	TREX1	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	134353	LSM11	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	64135	IFIH1	ORPHA:51
HP:0010674	Abnormal curvature of the vertebral column	64135	IFIH1	OMIM:182250
HP:0010674	Abnormal curvature of the vertebral column	23592	LEMD3	OMIM:166700
HP:0010674	Abnormal curvature of the vertebral column	23592	LEMD3	ORPHA:94063
HP:0010674	Abnormal curvature of the vertebral column	10075	HUWE1	OMIM:309590
HP:0010674	Abnormal curvature of the vertebral column	8518	ELP1	OMIM:223900
HP:0010674	Abnormal curvature of the vertebral column	8518	ELP1	ORPHA:1764
HP:0010674	Abnormal curvature of the vertebral column	5979	RET	OMIM:162300
HP:0010674	Abnormal curvature of the vertebral column	2245	FGD1	OMIM:305400
HP:0010674	Abnormal curvature of the vertebral column	8243	SMC1A	OMIM:301044
HP:0010674	Abnormal curvature of the vertebral column	8243	SMC1A	ORPHA:220386
HP:0010674	Abnormal curvature of the vertebral column	8243	SMC1A	ORPHA:3095
HP:0010674	Abnormal curvature of the vertebral column	84627	ZNF469	OMIM:229200
HP:0010674	Abnormal curvature of the vertebral column	84627	ZNF469	ORPHA:90354
HP:0010674	Abnormal curvature of the vertebral column	23394	ADNP	OMIM:615873
HP:0010674	Abnormal curvature of the vertebral column	29123	ANKRD11	ORPHA:2332
HP:0010674	Abnormal curvature of the vertebral column	29123	ANKRD11	ORPHA:261250
HP:0010674	Abnormal curvature of the vertebral column	26115	TANC2	OMIM:618906
HP:0010674	Abnormal curvature of the vertebral column	6473	SHOX	OMIM:127300
HP:0010674	Abnormal curvature of the vertebral column	6473	SHOX	ORPHA:314795
HP:0010674	Abnormal curvature of the vertebral column	4010	LMX1B	OMIM:161200
HP:0010674	Abnormal curvature of the vertebral column	4010	LMX1B	ORPHA:2614
HP:0010674	Abnormal curvature of the vertebral column	11235	PDCD10	ORPHA:221061
HP:0010674	Abnormal curvature of the vertebral column	83605	CCM2	ORPHA:221061
HP:0010674	Abnormal curvature of the vertebral column	889	KRIT1	ORPHA:221061
HP:0010674	Abnormal curvature of the vertebral column	4854	NOTCH3	OMIM:130720
HP:0010674	Abnormal curvature of the vertebral column	4854	NOTCH3	ORPHA:2789
HP:0010674	Abnormal curvature of the vertebral column	6652	SORD	OMIM:618912
HP:0010674	Abnormal curvature of the vertebral column	998	CDC42	OMIM:616737
HP:0010674	Abnormal curvature of the vertebral column	998	CDC42	ORPHA:487796
HP:0010674	Abnormal curvature of the vertebral column	23097	CDK19	OMIM:618916
HP:0010674	Abnormal curvature of the vertebral column	2332	FMR1	ORPHA:449291
HP:0010674	Abnormal curvature of the vertebral column	2332	FMR1	OMIM:300624
HP:0010674	Abnormal curvature of the vertebral column	6774	STAT3	ORPHA:2314
HP:0010674	Abnormal curvature of the vertebral column	6774	STAT3	OMIM:147060
HP:0010674	Abnormal curvature of the vertebral column	6597	SMARCA4	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	6597	SMARCA4	OMIM:614609
HP:0010674	Abnormal curvature of the vertebral column	6598	SMARCB1	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	6598	SMARCB1	OMIM:614608
HP:0010674	Abnormal curvature of the vertebral column	6659	SOX4	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	8289	ARID1A	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	5977	DPF2	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	6602	SMARCD1	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	57492	ARID1B	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	57492	ARID1B	OMIM:135900
HP:0010674	Abnormal curvature of the vertebral column	6605	SMARCE1	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	6664	SOX11	ORPHA:1465
HP:0010674	Abnormal curvature of the vertebral column	10616	RBCK1	OMIM:615895
HP:0010674	Abnormal curvature of the vertebral column	3955	LFNG	ORPHA:2311
HP:0010674	Abnormal curvature of the vertebral column	3955	LFNG	OMIM:609813
HP:0010674	Abnormal curvature of the vertebral column	91137	SLC25A46	OMIM:616505
HP:0010674	Abnormal curvature of the vertebral column	9378	NRXN1	OMIM:614325
HP:0010674	Abnormal curvature of the vertebral column	259232	NALCN	OMIM:615419
HP:0010674	Abnormal curvature of the vertebral column	259232	NALCN	OMIM:616266
HP:0010674	Abnormal curvature of the vertebral column	259232	NALCN	ORPHA:2053
HP:0010674	Abnormal curvature of the vertebral column	259232	NALCN	ORPHA:1147
HP:0010674	Abnormal curvature of the vertebral column	259232	NALCN	ORPHA:371364
HP:0010674	Abnormal curvature of the vertebral column	3759	KCNJ2	OMIM:170390
HP:0010674	Abnormal curvature of the vertebral column	3759	KCNJ2	ORPHA:37553
HP:0010674	Abnormal curvature of the vertebral column	157570	ESCO2	ORPHA:2319
HP:0010674	Abnormal curvature of the vertebral column	79583	TMEM231	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	51524	TMEM138	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	23090	ZNF423	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	80184	CEP290	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	51259	TMEM216	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	57545	CC2D2A	ORPHA:2318
HP:0010674	Abnormal curvature of the vertebral column	57545	CC2D2A	ORPHA:1454
HP:0010674	Abnormal curvature of the vertebral column	57545	CC2D2A	OMIM:612285
HP:0010674	Abnormal curvature of the vertebral column	3248	HPGD	ORPHA:2796
HP:0010674	Abnormal curvature of the vertebral column	6578	SLCO2A1	ORPHA:2796
HP:0010674	Abnormal curvature of the vertebral column	5422	POLA1	OMIM:301030
HP:0010674	Abnormal curvature of the vertebral column	6792	CDKL5	ORPHA:505652
HP:0010674	Abnormal curvature of the vertebral column	6792	CDKL5	ORPHA:3095
HP:0010674	Abnormal curvature of the vertebral column	6792	CDKL5	OMIM:300672
HP:0010674	Abnormal curvature of the vertebral column	79576	NKAP	OMIM:301039
HP:0010674	Abnormal curvature of the vertebral column	8985	PLOD3	OMIM:612394
HP:0010674	Abnormal curvature of the vertebral column	25	ABL1	OMIM:617602
HP:0010674	Abnormal curvature of the vertebral column	23152	CIC	OMIM:617600
HP:0010674	Abnormal curvature of the vertebral column	91147	TMEM67	ORPHA:1454
HP:0010674	Abnormal curvature of the vertebral column	91147	TMEM67	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	57449	PLEKHG5	OMIM:611067
HP:0010674	Abnormal curvature of the vertebral column	57449	PLEKHG5	OMIM:615376
HP:0010674	Abnormal curvature of the vertebral column	860	RUNX2	ORPHA:1452
HP:0010674	Abnormal curvature of the vertebral column	860	RUNX2	OMIM:119600
HP:0010674	Abnormal curvature of the vertebral column	139285	AMER1	ORPHA:2780
HP:0010674	Abnormal curvature of the vertebral column	139285	AMER1	OMIM:300373
HP:0010674	Abnormal curvature of the vertebral column	2313	FLI1	ORPHA:2308
HP:0010674	Abnormal curvature of the vertebral column	538	ATP7A	ORPHA:198
HP:0010674	Abnormal curvature of the vertebral column	157680	VPS13B	ORPHA:193
HP:0010674	Abnormal curvature of the vertebral column	8270	LAGE3	OMIM:301006
HP:0010674	Abnormal curvature of the vertebral column	2517	FUCA1	OMIM:230000
HP:0010674	Abnormal curvature of the vertebral column	80152	CENPT	OMIM:618702
HP:0010674	Abnormal curvature of the vertebral column	5352	PLOD2	ORPHA:2771
HP:0010674	Abnormal curvature of the vertebral column	8292	COLQ	ORPHA:98915
HP:0010674	Abnormal curvature of the vertebral column	8292	COLQ	OMIM:603034
HP:0010674	Abnormal curvature of the vertebral column	3913	LAMB2	ORPHA:98915
HP:0010674	Abnormal curvature of the vertebral column	6329	SCN4A	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	1140	CHRNB1	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	1144	CHRND	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	1145	CHRNE	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	221264	AK9	ORPHA:98913
HP:0010674	Abnormal curvature of the vertebral column	8913	CACNA1G	ORPHA:458803
HP:0010674	Abnormal curvature of the vertebral column	10020	GNE	OMIM:269921
HP:0010674	Abnormal curvature of the vertebral column	84823	LMNB2	OMIM:616540
HP:0010674	Abnormal curvature of the vertebral column	10274	STAG1	OMIM:617635
HP:0010674	Abnormal curvature of the vertebral column	10274	STAG1	ORPHA:502434
HP:0010674	Abnormal curvature of the vertebral column	6137	RPL13	OMIM:618728
HP:0010674	Abnormal curvature of the vertebral column	5879	RAC1	ORPHA:500159
HP:0010674	Abnormal curvature of the vertebral column	5879	RAC1	OMIM:617751
HP:0010674	Abnormal curvature of the vertebral column	85378	TUBGCP6	ORPHA:2518
HP:0010674	Abnormal curvature of the vertebral column	27229	TUBGCP4	ORPHA:2518
HP:0010674	Abnormal curvature of the vertebral column	1146	CHRNG	ORPHA:2990
HP:0010674	Abnormal curvature of the vertebral column	1146	CHRNG	OMIM:265000
HP:0010674	Abnormal curvature of the vertebral column	25782	RAB3GAP2	ORPHA:2510
HP:0010674	Abnormal curvature of the vertebral column	25782	RAB3GAP2	ORPHA:1387
HP:0010674	Abnormal curvature of the vertebral column	128637	TBC1D20	ORPHA:2510
HP:0010674	Abnormal curvature of the vertebral column	64131	XYLT1	ORPHA:1425
HP:0010674	Abnormal curvature of the vertebral column	55790	CSGALNACT1	ORPHA:1425
HP:0010674	Abnormal curvature of the vertebral column	55790	CSGALNACT1	OMIM:618870
HP:0010674	Abnormal curvature of the vertebral column	71	ACTG1	ORPHA:2995
HP:0010674	Abnormal curvature of the vertebral column	5286	PIK3C2A	ORPHA:557003
HP:0010674	Abnormal curvature of the vertebral column	5286	PIK3C2A	OMIM:618440
HP:0010674	Abnormal curvature of the vertebral column	8139	GAN	OMIM:256850
HP:0010674	Abnormal curvature of the vertebral column	8139	GAN	ORPHA:643
HP:0010674	Abnormal curvature of the vertebral column	5573	PRKAR1A	ORPHA:280651
HP:0010674	Abnormal curvature of the vertebral column	5573	PRKAR1A	OMIM:101800
HP:0010674	Abnormal curvature of the vertebral column	5144	PDE4D	ORPHA:280651
HP:0010674	Abnormal curvature of the vertebral column	87178	PNPT1	OMIM:608703
HP:0010674	Abnormal curvature of the vertebral column	87178	PNPT1	ORPHA:101111
HP:0010674	Abnormal curvature of the vertebral column	57647	DHX37	OMIM:618731
HP:0010674	Abnormal curvature of the vertebral column	1804	DPP6	OMIM:616311
HP:0010674	Abnormal curvature of the vertebral column	7471	WNT1	OMIM:615220
HP:0010674	Abnormal curvature of the vertebral column	64221	ROBO3	ORPHA:2744
HP:0010674	Abnormal curvature of the vertebral column	1630	DCC	ORPHA:2744
HP:0010674	Abnormal curvature of the vertebral column	1630	DCC	OMIM:617542
HP:0010674	Abnormal curvature of the vertebral column	80169	CTC1	OMIM:612199
HP:0010674	Abnormal curvature of the vertebral column	80169	CTC1	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	7545	ZIC1	OMIM:618736
HP:0010674	Abnormal curvature of the vertebral column	7545	ZIC1	OMIM:616602
HP:0010674	Abnormal curvature of the vertebral column	79875	THSD4	OMIM:619825
HP:0010674	Abnormal curvature of the vertebral column	170302	ARX	ORPHA:2508
HP:0010674	Abnormal curvature of the vertebral column	170302	ARX	OMIM:300004
HP:0010674	Abnormal curvature of the vertebral column	5130	PCYT1A	OMIM:608940
HP:0010674	Abnormal curvature of the vertebral column	5130	PCYT1A	ORPHA:85167
HP:0010674	Abnormal curvature of the vertebral column	3762	KCNJ5	ORPHA:37553
HP:0010674	Abnormal curvature of the vertebral column	1281	COL3A1	ORPHA:2500
HP:0010674	Abnormal curvature of the vertebral column	4322	MMP13	ORPHA:2501
HP:0010674	Abnormal curvature of the vertebral column	8367	H4C5	OMIM:619950
HP:0010674	Abnormal curvature of the vertebral column	8294	H4C9	OMIM:619951
HP:0010674	Abnormal curvature of the vertebral column	9853	RUSC2	OMIM:617773
HP:0010674	Abnormal curvature of the vertebral column	22880	MORC2	OMIM:616688
HP:0010674	Abnormal curvature of the vertebral column	22880	MORC2	OMIM:619090
HP:0010674	Abnormal curvature of the vertebral column	1161	ERCC8	ORPHA:90324
HP:0010674	Abnormal curvature of the vertebral column	1161	ERCC8	ORPHA:90321
HP:0010674	Abnormal curvature of the vertebral column	1161	ERCC8	ORPHA:90322
HP:0010674	Abnormal curvature of the vertebral column	1947	EFNB1	ORPHA:1520
HP:0010674	Abnormal curvature of the vertebral column	1947	EFNB1	OMIM:304110
HP:0010674	Abnormal curvature of the vertebral column	51126	NAA20	OMIM:619717
HP:0010674	Abnormal curvature of the vertebral column	60684	TRAPPC11	OMIM:615356
HP:0010674	Abnormal curvature of the vertebral column	60684	TRAPPC11	ORPHA:369847
HP:0010674	Abnormal curvature of the vertebral column	6938	TCF12	OMIM:619718
HP:0010674	Abnormal curvature of the vertebral column	9820	CUL7	ORPHA:2616
HP:0010674	Abnormal curvature of the vertebral column	23363	OBSL1	ORPHA:2616
HP:0010674	Abnormal curvature of the vertebral column	83987	CCDC8	ORPHA:2616
HP:0010674	Abnormal curvature of the vertebral column	755	CFAP410	OMIM:602271
HP:0010674	Abnormal curvature of the vertebral column	4047	LSS	ORPHA:2850
HP:0010674	Abnormal curvature of the vertebral column	197	AHSG	ORPHA:2850
HP:0010674	Abnormal curvature of the vertebral column	3694	ITGB6	ORPHA:2850
HP:0010674	Abnormal curvature of the vertebral column	10060	ABCC9	OMIM:619719
HP:0010674	Abnormal curvature of the vertebral column	3190	HNRNPK	ORPHA:453504
HP:0010674	Abnormal curvature of the vertebral column	3190	HNRNPK	ORPHA:352665
HP:0010674	Abnormal curvature of the vertebral column	3021	H3-3B	OMIM:619721
HP:0010674	Abnormal curvature of the vertebral column	64175	P3H1	OMIM:610915
HP:0010674	Abnormal curvature of the vertebral column	6660	SOX5	ORPHA:313892
HP:0010674	Abnormal curvature of the vertebral column	6660	SOX5	OMIM:616803
HP:0010674	Abnormal curvature of the vertebral column	84572	GNPTG	OMIM:252605
HP:0010674	Abnormal curvature of the vertebral column	9692	PRORP	OMIM:619737
HP:0010674	Abnormal curvature of the vertebral column	55699	IARS2	ORPHA:436174
HP:0010674	Abnormal curvature of the vertebral column	55699	IARS2	OMIM:616007
HP:0010674	Abnormal curvature of the vertebral column	7920	ABHD16A	OMIM:619735
HP:0010674	Abnormal curvature of the vertebral column	8560	DEGS1	OMIM:618404
HP:0010674	Abnormal curvature of the vertebral column	23761	PISD	OMIM:618889
HP:0010674	Abnormal curvature of the vertebral column	85365	ALG2	OMIM:616228
HP:0010674	Abnormal curvature of the vertebral column	85365	ALG2	ORPHA:353327
HP:0010674	Abnormal curvature of the vertebral column	64359	NXN	ORPHA:1507
HP:0010674	Abnormal curvature of the vertebral column	4920	ROR2	ORPHA:1507
HP:0010674	Abnormal curvature of the vertebral column	4920	ROR2	OMIM:268310
HP:0010674	Abnormal curvature of the vertebral column	1289	COL5A1	ORPHA:287
HP:0010674	Abnormal curvature of the vertebral column	1289	COL5A1	OMIM:619329
HP:0010674	Abnormal curvature of the vertebral column	1290	COL5A2	ORPHA:287
HP:0010674	Abnormal curvature of the vertebral column	54872	PIGG	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	7469	NELFA	ORPHA:280
HP:0010674	Abnormal curvature of the vertebral column	1656	DDX6	OMIM:618653
HP:0010674	Abnormal curvature of the vertebral column	5424	POLD1	OMIM:615381
HP:0010674	Abnormal curvature of the vertebral column	1501	CTNND2	ORPHA:281
HP:0010674	Abnormal curvature of the vertebral column	9037	SEMA5A	ORPHA:281
HP:0010674	Abnormal curvature of the vertebral column	88	ACTN2	OMIM:618654
HP:0010674	Abnormal curvature of the vertebral column	57178	ZMIZ1	OMIM:618659
HP:0010674	Abnormal curvature of the vertebral column	55012	PPP2R3C	OMIM:618419
HP:0010674	Abnormal curvature of the vertebral column	54840	APTX	OMIM:208920
HP:0010674	Abnormal curvature of the vertebral column	26057	ANKRD17	OMIM:619504
HP:0010674	Abnormal curvature of the vertebral column	284439	SLC25A42	OMIM:618416
HP:0010674	Abnormal curvature of the vertebral column	8642	DCHS1	OMIM:601390
HP:0010674	Abnormal curvature of the vertebral column	3476	IGBP1	ORPHA:52055
HP:0010674	Abnormal curvature of the vertebral column	79600	TCTN1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	79848	CSPP1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	65250	CPLANE1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	200894	ARL13B	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	9731	CEP104	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	219844	HYLS1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	23247	KATNIP	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	219854	TMEM218	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	9786	KIAA0586	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	79867	TCTN2	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	80776	B9D2	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	10464	PIBF1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	80210	ARMC9	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	23116	TOGARAM1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	25776	CBY1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	27077	B9D1	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	403	ARL3	ORPHA:475
HP:0010674	Abnormal curvature of the vertebral column	3981	LIG4	ORPHA:235
HP:0010674	Abnormal curvature of the vertebral column	54888	NSUN2	ORPHA:235
HP:0010674	Abnormal curvature of the vertebral column	56006	SMG9	OMIM:619995
HP:0010674	Abnormal curvature of the vertebral column	85301	COL27A1	OMIM:615155
HP:0010674	Abnormal curvature of the vertebral column	51604	PIGT	OMIM:615398
HP:0010674	Abnormal curvature of the vertebral column	51604	PIGT	ORPHA:369837
HP:0010674	Abnormal curvature of the vertebral column	84504	NKX6-2	ORPHA:527497
HP:0010674	Abnormal curvature of the vertebral column	9453	GGPS1	OMIM:619518
HP:0010674	Abnormal curvature of the vertebral column	54902	TTC19	OMIM:615157
HP:0010674	Abnormal curvature of the vertebral column	57863	CADM3	OMIM:619519
HP:0010674	Abnormal curvature of the vertebral column	8898	MTMR2	OMIM:601382
HP:0010674	Abnormal curvature of the vertebral column	56052	ALG1	ORPHA:79327
HP:0010674	Abnormal curvature of the vertebral column	8314	BAP1	OMIM:619762
HP:0010674	Abnormal curvature of the vertebral column	7750	ZMYM2	OMIM:619522
HP:0010674	Abnormal curvature of the vertebral column	59336	PRDM13	OMIM:619761
HP:0010674	Abnormal curvature of the vertebral column	6942	TCF20	OMIM:618430
HP:0010674	Abnormal curvature of the vertebral column	22	ABCB7	ORPHA:2802
HP:0010674	Abnormal curvature of the vertebral column	2542	SLC37A4	OMIM:619525
HP:0010674	Abnormal curvature of the vertebral column	9562	MINPP1	OMIM:619527
HP:0010674	Abnormal curvature of the vertebral column	6925	TCF4	OMIM:610954
HP:0010674	Abnormal curvature of the vertebral column	6925	TCF4	ORPHA:2896
HP:0010674	Abnormal curvature of the vertebral column	11107	PRDM5	ORPHA:90354
HP:0010674	Abnormal curvature of the vertebral column	23162	MAPK8IP3	OMIM:618443
HP:0010674	Abnormal curvature of the vertebral column	54941	RNF125	OMIM:616260
HP:0010674	Abnormal curvature of the vertebral column	10516	FBLN5	ORPHA:90348
HP:0010674	Abnormal curvature of the vertebral column	10516	FBLN5	OMIM:614434
HP:0010674	Abnormal curvature of the vertebral column	23219	FBXO28	OMIM:619777
HP:0010674	Abnormal curvature of the vertebral column	1107	CHD3	OMIM:618205
HP:0010674	Abnormal curvature of the vertebral column	51062	ATL1	OMIM:182600
HP:0010674	Abnormal curvature of the vertebral column	29929	ALG6	ORPHA:79320
HP:0010674	Abnormal curvature of the vertebral column	79087	ALG12	ORPHA:79324
HP:0010674	Abnormal curvature of the vertebral column	79628	SH3TC2	OMIM:601596
HP:0010674	Abnormal curvature of the vertebral column	79628	SH3TC2	ORPHA:99949
HP:0010674	Abnormal curvature of the vertebral column	6595	SMARCA2	OMIM:601358
HP:0010674	Abnormal curvature of the vertebral column	6595	SMARCA2	ORPHA:3051
HP:0010674	Abnormal curvature of the vertebral column	6595	SMARCA2	OMIM:619293
HP:0010674	Abnormal curvature of the vertebral column	1749	DLX5	OMIM:220600
HP:0010674	Abnormal curvature of the vertebral column	8295	TRRAP	OMIM:618454
HP:0010674	Abnormal curvature of the vertebral column	8621	CDK13	OMIM:617360
HP:0010674	Abnormal curvature of the vertebral column	51117	COQ4	OMIM:616276
HP:0010674	Abnormal curvature of the vertebral column	3763	KCNJ6	OMIM:614098
HP:0010674	Abnormal curvature of the vertebral column	3763	KCNJ6	ORPHA:435628
HP:0010674	Abnormal curvature of the vertebral column	5587	PRKD1	OMIM:617364
HP:0010674	Abnormal curvature of the vertebral column	29968	PSAT1	OMIM:616038
HP:0010674	Abnormal curvature of the vertebral column	6857	SYT1	OMIM:618218
HP:0010674	Abnormal curvature of the vertebral column	6857	SYT1	ORPHA:522077
HP:0010674	Abnormal curvature of the vertebral column	6654	SOS1	OMIM:610733
HP:0010674	Abnormal curvature of the vertebral column	6654	SOS1	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	5277	PIGA	OMIM:301072
HP:0010674	Abnormal curvature of the vertebral column	8905	AP1S2	OMIM:304340
HP:0010674	Abnormal curvature of the vertebral column	8905	AP1S2	ORPHA:85335
HP:0010674	Abnormal curvature of the vertebral column	6909	TBX2	OMIM:618223
HP:0010674	Abnormal curvature of the vertebral column	9759	HDAC4	OMIM:619797
HP:0010674	Abnormal curvature of the vertebral column	54892	NCAPG2	OMIM:618460
HP:0010674	Abnormal curvature of the vertebral column	55628	ZNF407	OMIM:619557
HP:0010674	Abnormal curvature of the vertebral column	1756	DMD	OMIM:310200
HP:0010674	Abnormal curvature of the vertebral column	1756	DMD	ORPHA:98896
HP:0010674	Abnormal curvature of the vertebral column	6323	SCN1A	OMIM:619317
HP:0010674	Abnormal curvature of the vertebral column	203547	VMA21	OMIM:310440
HP:0010674	Abnormal curvature of the vertebral column	22854	NTNG1	ORPHA:3095
HP:0010674	Abnormal curvature of the vertebral column	9568	GABBR2	ORPHA:3095
HP:0010674	Abnormal curvature of the vertebral column	9568	GABBR2	OMIM:617904
HP:0010674	Abnormal curvature of the vertebral column	51103	NDUFAF1	OMIM:618234
HP:0010674	Abnormal curvature of the vertebral column	3714	JAG2	OMIM:619566
HP:0010674	Abnormal curvature of the vertebral column	79868	ALG13	OMIM:300884
HP:0010674	Abnormal curvature of the vertebral column	29998	BICRA	OMIM:619325
HP:0010674	Abnormal curvature of the vertebral column	23586	RIGI	OMIM:616298
HP:0010674	Abnormal curvature of the vertebral column	79133	NDUFAF5	OMIM:618238
HP:0010674	Abnormal curvature of the vertebral column	137682	NDUFAF6	OMIM:618239
HP:0010674	Abnormal curvature of the vertebral column	6904	TBCD	ORPHA:496641
HP:0010674	Abnormal curvature of the vertebral column	6904	TBCD	OMIM:617193
HP:0010674	Abnormal curvature of the vertebral column	55967	NDUFA12	OMIM:618244
HP:0010674	Abnormal curvature of the vertebral column	28982	FLVCR1	ORPHA:88628
HP:0010674	Abnormal curvature of the vertebral column	28982	FLVCR1	OMIM:609033
HP:0010674	Abnormal curvature of the vertebral column	56915	EXOSC5	OMIM:619576
HP:0010674	Abnormal curvature of the vertebral column	55572	FOXRED1	OMIM:618241
HP:0010674	Abnormal curvature of the vertebral column	9719	ADAMTSL2	ORPHA:1901
HP:0010674	Abnormal curvature of the vertebral column	9509	ADAMTS2	ORPHA:1901
HP:0010674	Abnormal curvature of the vertebral column	10483	SEC23B	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	6390	SDHB	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	6392	SDHD	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	6391	SDHC	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	205717	USF3	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	100144748	KLLN	ORPHA:201
HP:0010674	Abnormal curvature of the vertebral column	9496	TBX4	ORPHA:261279
HP:0010674	Abnormal curvature of the vertebral column	8091	HMGA2	ORPHA:94063
HP:0010674	Abnormal curvature of the vertebral column	26175	LYSET	OMIM:619345
HP:0010674	Abnormal curvature of the vertebral column	54681	P4HTM	OMIM:618493
HP:0010674	Abnormal curvature of the vertebral column	1822	ATN1	OMIM:618494
HP:0010674	Abnormal curvature of the vertebral column	4015	LOX	OMIM:617168
HP:0010674	Abnormal curvature of the vertebral column	4015	LOX	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	84668	HYCC1	OMIM:610532
HP:0010674	Abnormal curvature of the vertebral column	9531	BAG3	OMIM:612954
HP:0010674	Abnormal curvature of the vertebral column	8425	LTBP4	ORPHA:98896
HP:0010674	Abnormal curvature of the vertebral column	1300	COL10A1	OMIM:156500
HP:0010674	Abnormal curvature of the vertebral column	6424	SFRP4	OMIM:265900
HP:0010674	Abnormal curvature of the vertebral column	57003	CCDC47	OMIM:618268
HP:0010674	Abnormal curvature of the vertebral column	716	C1S	OMIM:617174
HP:0010674	Abnormal curvature of the vertebral column	29895	MYL11	OMIM:619110
HP:0010674	Abnormal curvature of the vertebral column	5457	POU4F1	OMIM:619352
HP:0010674	Abnormal curvature of the vertebral column	35	ACADS	OMIM:201470
HP:0010674	Abnormal curvature of the vertebral column	145173	B3GLCT	OMIM:261540
HP:0010674	Abnormal curvature of the vertebral column	2033	EP300	OMIM:180849
HP:0010674	Abnormal curvature of the vertebral column	2776	GNAQ	ORPHA:624
HP:0010674	Abnormal curvature of the vertebral column	79809	TTC21B	OMIM:613819
HP:0010674	Abnormal curvature of the vertebral column	2571	GAD1	OMIM:619124
HP:0010674	Abnormal curvature of the vertebral column	90522	YIF1B	OMIM:619125
HP:0010674	Abnormal curvature of the vertebral column	440138	ALG11	ORPHA:280071
HP:0010674	Abnormal curvature of the vertebral column	6472	SHMT2	OMIM:619121
HP:0010674	Abnormal curvature of the vertebral column	57704	GBA2	ORPHA:320391
HP:0010674	Abnormal curvature of the vertebral column	57704	GBA2	OMIM:614409
HP:0010674	Abnormal curvature of the vertebral column	57704	GBA2	ORPHA:352641
HP:0010674	Abnormal curvature of the vertebral column	5080	PAX6	ORPHA:893
HP:0010674	Abnormal curvature of the vertebral column	627	BDNF	ORPHA:893
HP:0010674	Abnormal curvature of the vertebral column	7490	WT1	ORPHA:893
HP:0010674	Abnormal curvature of the vertebral column	55252	ASXL2	OMIM:617190
HP:0010674	Abnormal curvature of the vertebral column	5077	PAX3	ORPHA:894
HP:0010674	Abnormal curvature of the vertebral column	26137	ZBTB20	ORPHA:3042
HP:0010674	Abnormal curvature of the vertebral column	84295	PHF6	OMIM:301900
HP:0010674	Abnormal curvature of the vertebral column	11014	KDELR2	OMIM:619131
HP:0010674	Abnormal curvature of the vertebral column	2733	GLE1	OMIM:611890
HP:0010674	Abnormal curvature of the vertebral column	22800	RRAS2	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	867	CBL	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	6016	RIT1	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	6237	RRAS	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	22808	MRAS	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	200734	SPRED2	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	6655	SOS2	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	5922	RASA2	ORPHA:648
HP:0010674	Abnormal curvature of the vertebral column	5479	PPIB	OMIM:259440
HP:0010674	Abnormal curvature of the vertebral column	4693	NDP	ORPHA:649
HP:0010674	Abnormal curvature of the vertebral column	55074	OXR1	OMIM:213000
HP:0010674	Abnormal curvature of the vertebral column	5076	PAX2	OMIM:120330
HP:0010674	Abnormal curvature of the vertebral column	11011	TLK2	OMIM:618050
HP:0010674	Abnormal curvature of the vertebral column	129285	PPP1R21	OMIM:619383
HP:0010674	Abnormal curvature of the vertebral column	221692	PHACTR1	OMIM:618298
HP:0010674	Abnormal curvature of the vertebral column	161742	SPRED1	ORPHA:137605
HP:0010674	Abnormal curvature of the vertebral column	871	SERPINH1	OMIM:613848
HP:0010674	Abnormal curvature of the vertebral column	121340	SP7	OMIM:613849
HP:0010674	Abnormal curvature of the vertebral column	7421	VDR	ORPHA:93160
HP:0010674	Abnormal curvature of the vertebral column	23769	FLRT1	ORPHA:320406
HP:0010674	Abnormal curvature of the vertebral column	64837	KLC2	ORPHA:320406
HP:0010674	Abnormal curvature of the vertebral column	64837	KLC2	OMIM:609541
HP:0010674	Abnormal curvature of the vertebral column	10262	SF3B4	OMIM:154400
HP:0010674	Abnormal curvature of the vertebral column	9871	SEC24D	ORPHA:2050
HP:0010674	Abnormal curvature of the vertebral column	347734	SLC35B2	OMIM:620269
HP:0010674	Abnormal curvature of the vertebral column	10992	SF3B2	OMIM:164210
HP:0010674	Abnormal curvature of the vertebral column	1119	CHKA	OMIM:620023
HP:0010674	Abnormal curvature of the vertebral column	118987	PDZD8	OMIM:620021
HP:0010674	Abnormal curvature of the vertebral column	8443	GNPAT	OMIM:222765
HP:0010674	Abnormal curvature of the vertebral column	10324	KLHL41	ORPHA:171436
HP:0010674	Abnormal curvature of the vertebral column	10324	KLHL41	OMIM:615731
HP:0010674	Abnormal curvature of the vertebral column	10324	KLHL41	ORPHA:171439
HP:0010674	Abnormal curvature of the vertebral column	56203	LMOD3	ORPHA:171436
HP:0010674	Abnormal curvature of the vertebral column	100996717	NOTCH2NLC	ORPHA:2289
HP:0010674	Abnormal curvature of the vertebral column	8200	GDF5	ORPHA:93388
HP:0010674	Abnormal curvature of the vertebral column	8200	GDF5	ORPHA:968
HP:0010674	Abnormal curvature of the vertebral column	658	BMPR1B	ORPHA:93388
HP:0010674	Abnormal curvature of the vertebral column	2673	GFPT1	ORPHA:353327
HP:0010674	Abnormal curvature of the vertebral column	199857	ALG14	ORPHA:353327
HP:0010674	Abnormal curvature of the vertebral column	1351	COX8A	OMIM:619059
HP:0010674	Abnormal curvature of the vertebral column	100131801	PET100	OMIM:619055
HP:0010674	Abnormal curvature of the vertebral column	3899	AFF3	OMIM:619297
HP:0010674	Abnormal curvature of the vertebral column	7040	TGFB1	OMIM:131300
HP:0010674	Abnormal curvature of the vertebral column	7040	TGFB1	ORPHA:1328
HP:0010674	Abnormal curvature of the vertebral column	274	BIN1	OMIM:255200
HP:0010674	Abnormal curvature of the vertebral column	7840	ALMS1	OMIM:203800
HP:0010674	Abnormal curvature of the vertebral column	374393	FAM111B	OMIM:615704
HP:0010674	Abnormal curvature of the vertebral column	6911	TBX6	OMIM:122600
HP:0010674	Abnormal curvature of the vertebral column	6911	TBX6	ORPHA:1797
HP:0010674	Abnormal curvature of the vertebral column	121512	FGD4	OMIM:609311
HP:0010674	Abnormal curvature of the vertebral column	2335	FN1	OMIM:184255
HP:0010674	Abnormal curvature of the vertebral column	2335	FN1	ORPHA:93315
HP:0010674	Abnormal curvature of the vertebral column	375	ARF1	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	4131	MAP1B	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	23327	NEDD4L	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	160418	TMTC3	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	10564	ARFGEF2	ORPHA:98892
HP:0010674	Abnormal curvature of the vertebral column	1267	CNP	OMIM:619071
HP:0010674	Abnormal curvature of the vertebral column	1857	DVL3	ORPHA:3107
HP:0010674	Abnormal curvature of the vertebral column	1857	DVL3	OMIM:616894
HP:0010674	Abnormal curvature of the vertebral column	7474	WNT5A	ORPHA:3107
HP:0010674	Abnormal curvature of the vertebral column	6804	STX1A	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	7461	CLIP2	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	84277	DNAJC30	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	8468	FKBP6	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	5982	RFC2	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	2969	GTF2I	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	3984	LIMK1	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	9569	GTF2IRD1	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	155382	VPS37D	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	155368	METTL27	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	114049	BUD23	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	7458	EIF4H	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	84163	GTF2IRD2	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	9275	BCL7B	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	26608	TBL2	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	653361	NCF1	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	135886	TMEM270	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	9031	BAZ1B	ORPHA:904
HP:0010674	Abnormal curvature of the vertebral column	285175	UNC80	OMIM:616801
HP:0010674	Abnormal curvature of the vertebral column	285175	UNC80	ORPHA:371364
HP:0010674	Abnormal curvature of the vertebral column	81031	SLC2A10	ORPHA:3342
HP:0010674	Abnormal curvature of the vertebral column	81031	SLC2A10	OMIM:208050
HP:0010674	Abnormal curvature of the vertebral column	9990	SLC12A6	OMIM:620068
HP:0010674	Abnormal curvature of the vertebral column	9990	SLC12A6	OMIM:218000
HP:0010674	Abnormal curvature of the vertebral column	10236	HNRNPR	OMIM:620073
HP:0010674	Abnormal curvature of the vertebral column	2521	FUS	ORPHA:300605
HP:0010674	Abnormal curvature of the vertebral column	10280	SIGMAR1	ORPHA:300605
HP:0010674	Abnormal curvature of the vertebral column	10558	SPTLC1	ORPHA:300605
HP:0010674	Abnormal curvature of the vertebral column	5594	MAPK1	OMIM:619087
HP:0010674	Abnormal curvature of the vertebral column	23065	EMC1	ORPHA:480898
HP:0010674	Abnormal curvature of the vertebral column	23065	EMC1	OMIM:616875
HP:0010674	Abnormal curvature of the vertebral column	3187	HNRNPH1	OMIM:620083
HP:0010674	Abnormal curvature of the vertebral column	4677	NARS1	OMIM:619091
HP:0010674	Abnormal curvature of the vertebral column	7140	TNNT3	ORPHA:1147
HP:0010674	Abnormal curvature of the vertebral column	84665	MYPN	ORPHA:171439
HP:0010674	Abnormal curvature of the vertebral column	390594	KBTBD13	ORPHA:171439
HP:0010674	Abnormal curvature of the vertebral column	55681	SCYL2	ORPHA:1143
HP:0010674	Abnormal curvature of the vertebral column	84570	COL25A1	ORPHA:1143
HP:0010674	Abnormal curvature of the vertebral column	57222	ERGIC1	ORPHA:1143
HP:0010674	Abnormal curvature of the vertebral column	2688	GH1	OMIM:173100
HP:0010674	Abnormal curvature of the vertebral column	9939	RBM8A	ORPHA:3320
HP:0010674	Abnormal curvature of the vertebral column	2010	EMD	ORPHA:98863
HP:0010674	Abnormal curvature of the vertebral column	26353	HSPB8	OMIM:608673
HP:0010674	Abnormal curvature of the vertebral column	3329	HSPD1	ORPHA:100994
HP:0010674	Abnormal curvature of the vertebral column	2702	GJA5	OMIM:612474
HP:0010674	Abnormal curvature of the vertebral column	2703	GJA8	OMIM:612474
HP:0010674	Abnormal curvature of the vertebral column	55690	PACS1	ORPHA:329224
HP:0010674	Abnormal curvature of the vertebral column	4352	MPL	ORPHA:3319
HP:0010674	Abnormal curvature of the vertebral column	7066	THPO	ORPHA:3319
HP:0010674	Abnormal curvature of the vertebral column	284119	CAVIN1	OMIM:613327
HP:0010674	Abnormal curvature of the vertebral column	23064	SETX	OMIM:606002
HP:0010674	Abnormal curvature of the vertebral column	3720	JARID2	OMIM:620098
HP:0010674	Abnormal curvature of the vertebral column	79188	TMEM43	ORPHA:98853
HP:0010674	Abnormal curvature of the vertebral column	23224	SYNE2	ORPHA:98853
HP:0010674	Abnormal curvature of the vertebral column	54808	DYM	OMIM:607326
HP:0010674	Abnormal curvature of the vertebral column	54808	DYM	OMIM:223800
HP:0010674	Abnormal curvature of the vertebral column	9420	CYP7B1	ORPHA:100986
HP:0010674	Abnormal curvature of the vertebral column	9420	CYP7B1	OMIM:270800
HP:0010674	Abnormal curvature of the vertebral column	9780	PIEZO1	OMIM:616843
HP:0010674	Abnormal curvature of the vertebral column	4297	KMT2A	OMIM:605130
HP:0010674	Abnormal curvature of the vertebral column	101929726	MYMX	ORPHA:1358
HP:0010674	Abnormal curvature of the vertebral column	101929726	MYMX	OMIM:619941
HP:0010674	Abnormal curvature of the vertebral column	5718	PSMD12	ORPHA:529962
HP:0010674	Abnormal curvature of the vertebral column	2186	BPTF	ORPHA:529962
HP:0010674	Abnormal curvature of the vertebral column	84342	COG8	OMIM:611182
HP:0010674	Abnormal curvature of the vertebral column	89874	SLC25A21	OMIM:618811
HP:0010674	Abnormal curvature of the vertebral column	79633	FAT4	OMIM:615546
HP:0010674	Abnormal curvature of the vertebral column	3418	IDH2	ORPHA:163634
HP:0010674	Abnormal curvature of the vertebral column	3417	IDH1	ORPHA:163634
HP:0010674	Abnormal curvature of the vertebral column	7874	USP7	ORPHA:500055
HP:0010674	Abnormal curvature of the vertebral column	6628	SNRPB	OMIM:117650
HP:0010674	Abnormal curvature of the vertebral column	4929	NR4A2	ORPHA:98808
HP:0010674	Abnormal curvature of the vertebral column	3615	IMPDH2	ORPHA:98808
HP:0010674	Abnormal curvature of the vertebral column	2588	GALNS	OMIM:253000
HP:0010674	Abnormal curvature of the vertebral column	9791	PTDSS1	ORPHA:2658
HP:0010674	Abnormal curvature of the vertebral column	29957	SLC25A24	OMIM:612289
HP:0010674	Abnormal curvature of the vertebral column	490	ATP2B1	OMIM:619910
HP:0010674	Abnormal curvature of the vertebral column	2670	GFAP	ORPHA:363722
HP:0010674	Abnormal curvature of the vertebral column	2670	GFAP	ORPHA:363717
HP:0010674	Abnormal curvature of the vertebral column	54870	QRICH1	OMIM:617982
HP:0010674	Abnormal curvature of the vertebral column	3295	HSD17B4	OMIM:233400
HP:0010674	Abnormal curvature of the vertebral column	5500	PPP1CB	OMIM:617506
HP:0010674	Abnormal curvature of the vertebral column	54676	GTPBP2	OMIM:617988
HP:0010674	Abnormal curvature of the vertebral column	8241	RBM10	ORPHA:2886
HP:0010674	Abnormal curvature of the vertebral column	2767	GNA11	ORPHA:1556
HP:0010674	Abnormal curvature of the vertebral column	151188	ARL6IP6	ORPHA:1556
HP:0010674	Abnormal curvature of the vertebral column	6529	SLC6A1	OMIM:616421
HP:0010674	Abnormal curvature of the vertebral column	22943	DKK1	ORPHA:268882
HP:0010674	Abnormal curvature of the vertebral column	3664	IRF6	ORPHA:1300
HP:0010674	Abnormal curvature of the vertebral column	8815	BANF1	OMIM:614008
HP:0010674	Abnormal curvature of the vertebral column	10584	COLEC10	ORPHA:293843
HP:0010674	Abnormal curvature of the vertebral column	5648	MASP1	ORPHA:293843
HP:0010674	Abnormal curvature of the vertebral column	78989	COLEC11	ORPHA:293843
HP:0010674	Abnormal curvature of the vertebral column	57731	SPTBN4	OMIM:617519
HP:0010674	Abnormal curvature of the vertebral column	166929	SGMS2	OMIM:126550
HP:0010674	Abnormal curvature of the vertebral column	4848	CNOT2	OMIM:618608
HP:0010674	Abnormal curvature of the vertebral column	23529	CLCF1	ORPHA:1545
HP:0010674	Abnormal curvature of the vertebral column	26229	B3GAT3	OMIM:245600
HP:0010674	Abnormal curvature of the vertebral column	51733	UPB1	OMIM:613161
HP:0010674	Abnormal curvature of the vertebral column	2902	GRIN1	OMIM:614254
HP:0010674	Abnormal curvature of the vertebral column	22827	PUF60	OMIM:615583
HP:0010674	Abnormal curvature of the vertebral column	26277	TINF2	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	55651	NHP2	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	79650	USB1	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	55135	WRAP53	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	51750	RTEL1	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	4869	NPM1	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	7012	TERC	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	55505	NOP10	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	5073	PARN	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	7015	TERT	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	1736	DKC1	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	7298	TYMS	ORPHA:1775
HP:0010674	Abnormal curvature of the vertebral column	6736	SRY	ORPHA:1772
HP:0010674	Abnormal curvature of the vertebral column	55753	OGDHL	OMIM:619701
HP:0010674	Abnormal curvature of the vertebral column	58508	KMT2C	OMIM:617768
HP:0010674	Abnormal curvature of the vertebral column	9570	GOSR2	OMIM:614018
HP:0010674	Abnormal curvature of the vertebral column	4629	MYH11	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	4089	SMAD4	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	59	ACTA2	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	5592	PRKG1	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	2301	FOXE3	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	4144	MAT2A	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	23493	HEY2	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	8076	MFAP5	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	4638	MYLK	ORPHA:91387
HP:0010674	Abnormal curvature of the vertebral column	6399	TRAPPC2	ORPHA:93284
HP:0010674	Abnormal curvature of the vertebral column	9131	AIFM1	OMIM:300232
HP:0010674	Abnormal curvature of the vertebral column	6834	SURF1	OMIM:616684
HP:0010674	Abnormal curvature of the vertebral column	8838	CCN6	OMIM:208230
HP:0010674	Abnormal curvature of the vertebral column	11284	PNKP	ORPHA:459033
HP:0010674	Abnormal curvature of the vertebral column	3008	H1-4	OMIM:617537
HP:0010674	Abnormal curvature of the vertebral column	1788	DNMT3A	ORPHA:404443
HP:0010674	Abnormal curvature of the vertebral column	4359	MPZ	OMIM:180800
HP:0010674	Abnormal curvature of the vertebral column	4359	MPZ	ORPHA:3115
HP:0010674	Abnormal curvature of the vertebral column	4359	MPZ	OMIM:118200
HP:0010674	Abnormal curvature of the vertebral column	4359	MPZ	OMIM:145900
HP:0010674	Abnormal curvature of the vertebral column	5376	PMP22	OMIM:180800
HP:0010674	Abnormal curvature of the vertebral column	5376	PMP22	ORPHA:3115
HP:0010674	Abnormal curvature of the vertebral column	5376	PMP22	ORPHA:101081
HP:0010674	Abnormal curvature of the vertebral column	5376	PMP22	OMIM:118220
HP:0010674	Abnormal curvature of the vertebral column	5376	PMP22	OMIM:145900
HP:0010674	Abnormal curvature of the vertebral column	79581	SLC52A2	OMIM:614707
HP:0010674	Abnormal curvature of the vertebral column	9401	RECQL4	OMIM:268400
HP:0010674	Abnormal curvature of the vertebral column	4784	NFIX	ORPHA:447980
HP:0010674	Abnormal curvature of the vertebral column	4784	NFIX	OMIM:602535
HP:0010674	Abnormal curvature of the vertebral column	54332	GDAP1	OMIM:607831
HP:0010674	Abnormal curvature of the vertebral column	54332	GDAP1	OMIM:214400
HP:0010674	Abnormal curvature of the vertebral column	56704	JPH1	OMIM:607831
HP:0010674	Abnormal curvature of the vertebral column	1278	COL1A2	ORPHA:230851
HP:0010674	Abnormal curvature of the vertebral column	65993	MRPS34	OMIM:617664
HP:0010674	Abnormal curvature of the vertebral column	1855	DVL1	OMIM:616331
HP:0010674	Abnormal curvature of the vertebral column	64412	GZF1	OMIM:617662
HP:0010674	Abnormal curvature of the vertebral column	2137	EXTL3	OMIM:617425
HP:0010674	Abnormal curvature of the vertebral column	2201	FBN2	OMIM:121050
HP:0010674	Abnormal curvature of the vertebral column	3149	HMGB3	OMIM:300915
HP:0010674	Abnormal curvature of the vertebral column	10847	SRCAP	ORPHA:2044
HP:0010674	Abnormal curvature of the vertebral column	10847	SRCAP	OMIM:136140
HP:0010674	Abnormal curvature of the vertebral column	6662	SOX9	OMIM:114290
HP:0010674	Abnormal curvature of the vertebral column	10978	CLP1	OMIM:615803
HP:0010674	Abnormal curvature of the vertebral column	81846	SBF2	OMIM:604563
HP:0010674	Abnormal curvature of the vertebral column	81846	SBF2	ORPHA:99956
HP:0010674	Abnormal curvature of the vertebral column	9382	COG1	OMIM:611209
HP:0010674	Abnormal curvature of the vertebral column	9382	COG1	ORPHA:263508
HP:0010674	Abnormal curvature of the vertebral column	57231	SNX14	ORPHA:397709
HP:0010674	Abnormal curvature of the vertebral column	57231	SNX14	OMIM:616354
HP:0010674	Abnormal curvature of the vertebral column	1763	DNA2	OMIM:615807
HP:0010674	Abnormal curvature of the vertebral column	54	ACP5	OMIM:607944
HP:0010674	Abnormal curvature of the vertebral column	1280	COL2A1	OMIM:616583
HP:0010674	Abnormal curvature of the vertebral column	1280	COL2A1	ORPHA:85198
HP:0010674	Abnormal curvature of the vertebral column	1280	COL2A1	ORPHA:93316
HP:0010674	Abnormal curvature of the vertebral column	9469	CHST3	OMIM:143095
HP:0010674	Abnormal curvature of the vertebral column	9469	CHST3	ORPHA:263463
HP:0010674	Abnormal curvature of the vertebral column	113189	CHST14	ORPHA:2953
HP:0010674	Abnormal curvature of the vertebral column	29940	DSE	ORPHA:2953
HP:0010674	Abnormal curvature of the vertebral column	23545	ATP6V0A2	ORPHA:2834
HP:0010674	Abnormal curvature of the vertebral column	4853	NOTCH2	OMIM:102500
HP:0010674	Abnormal curvature of the vertebral column	10381	TUBB3	ORPHA:300570
HP:0010674	Abnormal curvature of the vertebral column	23184	MESD	OMIM:618644
HP:0010674	Abnormal curvature of the vertebral column	55858	TMEM165	OMIM:614727
HP:0010674	Abnormal curvature of the vertebral column	5191	PEX7	OMIM:215100
HP:0010674	Abnormal curvature of the vertebral column	57190	SELENON	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	58	ACTA1	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	4633	MYL2	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	3679	ITGA7	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	7169	TPM2	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	7169	TPM2	OMIM:609285
HP:0010674	Abnormal curvature of the vertebral column	9200	HACD1	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	7170	TPM3	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	51776	MAP3K20	ORPHA:2020
HP:0010674	Abnormal curvature of the vertebral column	4763	NF1	ORPHA:363700
HP:0010674	Abnormal curvature of the vertebral column	1303	COL12A1	OMIM:616470
HP:0010674	Abnormal curvature of the vertebral column	1303	COL12A1	ORPHA:536516
HP:0010674	Abnormal curvature of the vertebral column	1193	CLIC2	ORPHA:324410
HP:0010674	Abnormal curvature of the vertebral column	1193	CLIC2	OMIM:300886
HP:0010674	Abnormal curvature of the vertebral column	10682	EBP	ORPHA:35173
HP:0010674	Abnormal curvature of the vertebral column	10682	EBP	OMIM:302960
HP:0010674	Abnormal curvature of the vertebral column	60	ACTB	OMIM:607371
HP:0010674	Abnormal curvature of the vertebral column	649	BMP1	OMIM:614856
HP:0010674	Abnormal curvature of the vertebral column	4598	MVK	OMIM:610377
HP:0010674	Abnormal curvature of the vertebral column	165	AEBP1	ORPHA:536532
HP:0010674	Abnormal curvature of the vertebral column	2074	ERCC6	OMIM:214150
HP:0010674	Abnormal curvature of the vertebral column	6261	RYR1	ORPHA:597
HP:0010674	Abnormal curvature of the vertebral column	6261	RYR1	OMIM:619542
HP:0010674	Abnormal curvature of the vertebral column	5654	HTRA1	ORPHA:199354
HP:0010674	Abnormal curvature of the vertebral column	59341	TRPV4	OMIM:184252
HP:0010674	Abnormal curvature of the vertebral column	59341	TRPV4	OMIM:156530
HP:0010674	Abnormal curvature of the vertebral column	59341	TRPV4	ORPHA:93304
HP:0010674	Abnormal curvature of the vertebral column	55131	RBM28	ORPHA:157954
HP:0010674	Abnormal curvature of the vertebral column	55131	RBM28	OMIM:612079
HP:0010674	Abnormal curvature of the vertebral column	8260	NAA10	OMIM:309800
HP:0010674	Abnormal curvature of the vertebral column	54880	BCOR	OMIM:309800
HP:0010674	Abnormal curvature of the vertebral column	63895	PIEZO2	OMIM:114300
HP:0010674	Abnormal curvature of the vertebral column	9255	AIMP1	OMIM:260600
HP:0010674	Abnormal curvature of the vertebral column	3845	KRAS	OMIM:163200
HP:0010674	Abnormal curvature of the vertebral column	4893	NRAS	OMIM:163200
HP:0010674	Abnormal curvature of the vertebral column	3265	HRAS	OMIM:163200
HP:0010674	Abnormal curvature of the vertebral column	6506	SLC1A2	OMIM:617105
HP:0010674	Abnormal curvature of the vertebral column	84919	PPP1R15B	OMIM:616817
HP:0010674	Abnormal curvature of the vertebral column	84919	PPP1R15B	ORPHA:391408
HP:0010674	Abnormal curvature of the vertebral column	388015	RTL1	ORPHA:96334
HP:0010674	Abnormal curvature of the vertebral column	8788	DLK1	ORPHA:96334
HP:0010674	Abnormal curvature of the vertebral column	55384	MEG3	ORPHA:96334
HP:0010674	Abnormal curvature of the vertebral column	2316	FLNA	OMIM:304120
HP:0010674	Abnormal curvature of the vertebral column	2316	FLNA	OMIM:309350
HP:0010674	Abnormal curvature of the vertebral column	51085	MLXIPL	OMIM:194050
HP:0010674	Abnormal curvature of the vertebral column	2006	ELN	OMIM:194050
HP:0010674	Abnormal curvature of the vertebral column	10667	FARS2	ORPHA:466722
HP:0010674	Abnormal curvature of the vertebral column	11128	POLR3A	ORPHA:3455
HP:0010674	Abnormal curvature of the vertebral column	10430	TMEM147	OMIM:620075
HP:0010674	Abnormal curvature of the vertebral column	5373	PMM2	ORPHA:79318
HP:0010674	Abnormal curvature of the vertebral column	339855	KY	ORPHA:496689
HP:0010674	Abnormal curvature of the vertebral column	9147	NEMF	OMIM:619099
HP:0010674	Abnormal curvature of the vertebral column	546	ATRX	OMIM:309580
HP:0010674	Abnormal curvature of the vertebral column	546	ATRX	OMIM:301040
HP:0010674	Abnormal curvature of the vertebral column	6611	SMS	OMIM:309583
HP:0010674	Abnormal curvature of the vertebral column	6611	SMS	ORPHA:3063
HP:0010674	Abnormal curvature of the vertebral column	7317	UBA1	ORPHA:1145
HP:0010674	Abnormal curvature of the vertebral column	3339	HSPG2	OMIM:255800
HP:0010674	Abnormal curvature of the vertebral column	60681	FKBP10	OMIM:610968
HP:0010674	Abnormal curvature of the vertebral column	4313	MMP2	OMIM:259600
HP:0010674	Abnormal curvature of the vertebral column	6567	SLC16A2	ORPHA:59
HP:0010674	Abnormal curvature of the vertebral column	5832	ALDH18A1	ORPHA:447760
HP:0010674	Abnormal curvature of the vertebral column	10397	NDRG1	ORPHA:99950
HP:0010674	Abnormal curvature of the vertebral column	10397	NDRG1	OMIM:601455
HP:0010674	Abnormal curvature of the vertebral column	5781	PTPN11	OMIM:151100
HP:0010674	Abnormal curvature of the vertebral column	5781	PTPN11	OMIM:163950
HP:0010674	Abnormal curvature of the vertebral column	91252	SLC39A13	OMIM:612350
HP:0010674	Abnormal curvature of the vertebral column	9894	TELO2	OMIM:616954
HP:0010674	Abnormal curvature of the vertebral column	9894	TELO2	ORPHA:488642
HP:0010674	Abnormal curvature of the vertebral column	2744	GLS	OMIM:618339
HP:0010674	Abnormal curvature of the vertebral column	196528	ARID2	OMIM:617808
HP:0010674	Abnormal curvature of the vertebral column	1959	EGR2	OMIM:145900
HP:0010674	Abnormal curvature of the vertebral column	57716	PRX	OMIM:145900
HP:0010674	Abnormal curvature of the vertebral column	23111	SPART	OMIM:275900
HP:0010674	Abnormal curvature of the vertebral column	5351	PLOD1	OMIM:225400
HP:0010674	Abnormal curvature of the vertebral column	579	NKX3-2	OMIM:613330
HP:0010674	Abnormal curvature of the vertebral column	57122	NUP107	OMIM:618348
HP:0010674	Abnormal curvature of the vertebral column	50814	NSDHL	ORPHA:251383
HP:0010674	Abnormal curvature of the vertebral column	411	ARSB	OMIM:253200
HP:0010674	Abnormal curvature of the vertebral column	9150	CTDP1	OMIM:604168
HP:0010674	Abnormal curvature of the vertebral column	4722	NDUFS3	OMIM:618230
HP:0010674	Abnormal curvature of the vertebral column	55033	FKBP14	OMIM:614557
HP:0010674	Abnormal curvature of the vertebral column	55033	FKBP14	ORPHA:300179
HP:0010674	Abnormal curvature of the vertebral column	4041	LRP5	OMIM:259770
HP:0010674	Abnormal curvature of the vertebral column	3736	KCNA1	ORPHA:37612
HP:0010674	Abnormal curvature of the vertebral column	2068	ERCC2	OMIM:610756
HP:0010674	Abnormal curvature of the vertebral column	10683	DLL3	OMIM:277300
HP:0010674	Abnormal curvature of the vertebral column	145873	MESP2	OMIM:277300
HP:0010674	Abnormal curvature of the vertebral column	2067	ERCC1	OMIM:610758
HP:0010674	Abnormal curvature of the vertebral column	4204	MECP2	OMIM:300055
HP:0010674	Abnormal curvature of the vertebral column	4204	MECP2	ORPHA:3077
HP:0010674	Abnormal curvature of the vertebral column	8925	HERC1	ORPHA:457359
HP:0010674	Abnormal curvature of the vertebral column	4621	MYH3	OMIM:193700
HP:0010674	Abnormal curvature of the vertebral column	22930	RAB3GAP1	OMIM:600118
HP:0010674	Abnormal curvature of the vertebral column	2530	FUT8	OMIM:618005
HP:0010674	Abnormal curvature of the vertebral column	2200	FBN1	OMIM:154700
HP:0010674	Abnormal curvature of the vertebral column	84068	SLC10A7	OMIM:618363
HP:0010674	Abnormal curvature of the vertebral column	23345	SYNE1	OMIM:618484
HP:0010674	Abnormal curvature of the vertebral column	182	JAG1	OMIM:619574
HP:0010674	Abnormal curvature of the vertebral column	7965	AIMP2	OMIM:618006
HP:0010674	Abnormal curvature of the vertebral column	92344	GORAB	OMIM:231070
HP:0010674	Abnormal curvature of the vertebral column	6678	SPARC	OMIM:616507
HP:0010674	Abnormal curvature of the vertebral column	25778	DSTYK	ORPHA:101003
HP:0010674	Abnormal curvature of the vertebral column	4547	MTTP	ORPHA:14
HP:0010674	Abnormal curvature of the vertebral column	80185	TTI2	OMIM:615541
HP:0010674	Abnormal curvature of the vertebral column	80185	TTI2	ORPHA:391307
HP:0010674	Abnormal curvature of the vertebral column	84896	ATAD1	OMIM:618011
HP:0010674	Abnormal curvature of the vertebral column	51715	RAB23	ORPHA:65759
HP:0010674	Abnormal curvature of the vertebral column	1954	MEGF8	ORPHA:65759
HP:0010674	Abnormal curvature of the vertebral column	79147	FKRP	ORPHA:370980
HP:0010674	Abnormal curvature of the vertebral column	2218	FKTN	ORPHA:370980
HP:0010674	Abnormal curvature of the vertebral column	729920	CRPPA	ORPHA:370980
HP:0010674	Abnormal curvature of the vertebral column	10585	POMT1	ORPHA:370980
HP:0010674	Abnormal curvature of the vertebral column	9244	CRLF1	OMIM:272430
HP:0010674	Abnormal curvature of the vertebral column	26040	SETBP1	ORPHA:798
HP:0010674	Abnormal curvature of the vertebral column	5727	PTCH1	OMIM:109400
HP:0010674	Abnormal curvature of the vertebral column	11285	B4GALT7	ORPHA:75496
HP:0010674	Abnormal curvature of the vertebral column	3835	KIF22	ORPHA:93360
HP:0010674	Abnormal curvature of the vertebral column	4000	LMNA	OMIM:605588
HP:0010674	Abnormal curvature of the vertebral column	1861	TOR1A	OMIM:618947
HP:0010674	Abnormal curvature of the vertebral column	23233	EXOC6B	ORPHA:93359
HP:0010674	Abnormal curvature of the vertebral column	126792	B3GALT6	ORPHA:93359
HP:0010674	Abnormal curvature of the vertebral column	126792	B3GALT6	OMIM:271640
HP:0010674	Abnormal curvature of the vertebral column	126792	B3GALT6	ORPHA:536467
HP:0010674	Abnormal curvature of the vertebral column	126792	B3GALT6	OMIM:615349
HP:0010674	Abnormal curvature of the vertebral column	22931	RAB18	OMIM:614222
HP:0010674	Abnormal curvature of the vertebral column	4659	PPP1R12A	OMIM:618820
HP:0010674	Abnormal curvature of the vertebral column	10382	TUBB4A	ORPHA:98805
HP:0010674	Abnormal curvature of the vertebral column	56270	WDR45B	OMIM:617977
HP:0010674	Abnormal curvature of the vertebral column	9060	PAPSS2	OMIM:612847
HP:0010674	Abnormal curvature of the vertebral column	4796	TONSL	ORPHA:93357
HP:0010674	Abnormal curvature of the vertebral column	4796	TONSL	OMIM:271510
HP:0010674	Abnormal curvature of the vertebral column	1836	SLC26A2	OMIM:222600
HP:0010674	Abnormal curvature of the vertebral column	285590	SH3PXD2B	OMIM:249420
HP:0010674	Abnormal curvature of the vertebral column	4841	NONO	OMIM:300967
HP:0010674	Abnormal curvature of the vertebral column	4841	NONO	ORPHA:466791
HP:0010674	Abnormal curvature of the vertebral column	6197	RPS6KA3	OMIM:300844
HP:0010674	Abnormal curvature of the vertebral column	207	AKT1	OMIM:176920
HP:0010674	Abnormal curvature of the vertebral column	60482	SLC5A7	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	4649	MYO9A	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	1305	COL13A1	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	1103	CHAT	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	6576	SLC25A1	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	6843	VAMP1	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	375790	AGRN	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	127833	SYT2	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	6572	SLC18A3	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	6616	SNAP25	ORPHA:98914
HP:0010674	Abnormal curvature of the vertebral column	55717	WDR11	OMIM:620237
HP:0010674	Abnormal curvature of the vertebral column	93587	TRMT10A	ORPHA:391408
HP:0010674	Abnormal curvature of the vertebral column	2273	FHL1	OMIM:300280
HP:0010674	Abnormal curvature of the vertebral column	6651	SON	ORPHA:500150
HP:0010674	Abnormal curvature of the vertebral column	89970	RSPRY1	ORPHA:457395
HP:0010674	Abnormal curvature of the vertebral column	80208	SPG11	OMIM:616668
HP:0010674	Abnormal curvature of the vertebral column	1073	CFL2	OMIM:610687
HP:0010674	Abnormal curvature of the vertebral column	138050	HGSNAT	OMIM:252930
HP:0010674	Abnormal curvature of the vertebral column	875	CBS	OMIM:236200
HP:0010674	Abnormal curvature of the vertebral column	10269	ZMPSTE24	OMIM:275210
HP:0010674	Abnormal curvature of the vertebral column	3908	LAMA2	OMIM:607855
HP:0010674	Abnormal curvature of the vertebral column	7043	TGFB3	OMIM:615582
HP:0010674	Abnormal curvature of the vertebral column	4137	MAPT	OMIM:260540
HP:0010674	Abnormal curvature of the vertebral column	523	ATP6V1A	OMIM:617403
HP:0010674	Abnormal curvature of the vertebral column	529	ATP6V1E1	OMIM:617402
HP:0010674	Abnormal curvature of the vertebral column	26123	TCTN3	OMIM:614815
HP:0010674	Abnormal curvature of the vertebral column	8517	IKBKG	OMIM:308300
HP:0010674	Abnormal curvature of the vertebral column	246329	STAC3	OMIM:255995
HP:0010674	Abnormal curvature of the vertebral column	5604	MAP2K1	OMIM:163950
HP:0010674	Abnormal curvature of the vertebral column	673	BRAF	OMIM:163950
HP:0010674	Abnormal curvature of the vertebral column	6840	SVIL	OMIM:619040
HP:0010674	Abnormal curvature of the vertebral column	267010	RNU12	OMIM:603116
HP:0010674	Abnormal curvature of the vertebral column	526	ATP6V1B2	OMIM:616455
HP:0010674	Abnormal curvature of the vertebral column	50940	PDE11A	OMIM:610475
HP:0010674	Abnormal curvature of the vertebral column	55904	KMT2E	OMIM:618512
HP:0010674	Abnormal curvature of the vertebral column	137492	VPS37A	ORPHA:319199
HP:0010674	Abnormal curvature of the vertebral column	137492	VPS37A	OMIM:614898
HP:0010674	Abnormal curvature of the vertebral column	83550	GPR101	ORPHA:963
HP:0010674	Abnormal curvature of the vertebral column	83550	GPR101	OMIM:300942
HP:0010674	Abnormal curvature of the vertebral column	9049	AIP	ORPHA:963
HP:0010674	Abnormal curvature of the vertebral column	9049	AIP	OMIM:219090
HP:0010674	Abnormal curvature of the vertebral column	4323	MMP14	OMIM:277950
HP:0010674	Abnormal curvature of the vertebral column	3106	HLA-B	OMIM:106300
HP:0010674	Abnormal curvature of the vertebral column	7020	TFAP2A	OMIM:113620
HP:0010674	Abnormal curvature of the vertebral column	633	BGN	OMIM:300106
HP:0010674	Abnormal curvature of the vertebral column	89780	WNT3A	ORPHA:85193
HP:0010674	Abnormal curvature of the vertebral column	3782	KCNN3	OMIM:618658
HP:0010674	Abnormal curvature of the vertebral column	23137	SMC5	OMIM:620185
HP:0010674	Abnormal curvature of the vertebral column	92667	MGME1	ORPHA:352447
HP:0010674	Abnormal curvature of the vertebral column	92667	MGME1	OMIM:615084
HP:0010674	Abnormal curvature of the vertebral column	3423	IDS	OMIM:309900
HP:0010674	Abnormal curvature of the vertebral column	3930	LBR	OMIM:169400
HP:0010674	Abnormal curvature of the vertebral column	3930	LBR	OMIM:618019
HP:0010674	Abnormal curvature of the vertebral column	9896	FIG4	OMIM:216340
HP:0010674	Abnormal curvature of the vertebral column	26100	WIPI2	OMIM:618453
HP:0010674	Abnormal curvature of the vertebral column	2303	FOXC2	OMIM:153400
HP:0010674	Abnormal curvature of the vertebral column	950	SCARB2	ORPHA:77259
HP:0010674	Abnormal curvature of the vertebral column	7167	TPI1	OMIM:615512
HP:0010674	Abnormal curvature of the vertebral column	3081	HGD	OMIM:203500
HP:0010674	Abnormal curvature of the vertebral column	79796	ALG9	OMIM:608776
HP:0010674	Abnormal curvature of the vertebral column	1436	CSF1R	OMIM:618476
HP:0010674	Abnormal curvature of the vertebral column	29078	NDUFAF4	OMIM:618237
HP:0010674	Abnormal curvature of the vertebral column	3897	L1CAM	OMIM:303350
HP:0010674	Abnormal curvature of the vertebral column	4982	TNFRSF11B	OMIM:239000
HP:0010674	Abnormal curvature of the vertebral column	9101	USP8	OMIM:219090
HP:0010674	Abnormal curvature of the vertebral column	7343	UBTF	ORPHA:500180
HP:0010674	Abnormal curvature of the vertebral column	8720	MBTPS1	OMIM:618392
HP:0010674	Abnormal curvature of the vertebral column	23405	DICER1	OMIM:618272
HP:0010674	Abnormal curvature of the vertebral column	57477	SHROOM4	ORPHA:85288
HP:0010674	Abnormal curvature of the vertebral column	91875	TTC5	OMIM:619244
HP:0010674	Abnormal curvature of the vertebral column	90416	CCDC32	OMIM:619123
HP:0010674	Abnormal curvature of the vertebral column	79152	FA2H	ORPHA:171629
HP:0010674	Abnormal curvature of the vertebral column	9373	PLAA	ORPHA:521426
HP:0010674	Abnormal curvature of the vertebral column	9373	PLAA	OMIM:617527
HP:0010674	Abnormal curvature of the vertebral column	5296	PIK3R2	OMIM:603387
HP:0010674	Abnormal curvature of the vertebral column	1315	COPB1	OMIM:619255
HP:0010674	Abnormal curvature of the vertebral column	203190	LGI3	OMIM:620007
HP:0010674	Abnormal curvature of the vertebral column	79644	SRD5A3	ORPHA:324737
HP:0010674	Abnormal curvature of the vertebral column	5297	PI4KA	OMIM:619708
HP:0010674	Abnormal curvature of the vertebral column	23314	SATB2	ORPHA:251028
HP:0010674	Abnormal curvature of the vertebral column	7415	VCP	OMIM:167320
HP:0010674	Abnormal curvature of the vertebral column	7415	VCP	ORPHA:435387
HP:0010674	Abnormal curvature of the vertebral column	1302	COL11A2	OMIM:215150
HP:0010674	Abnormal curvature of the vertebral column	1302	COL11A2	ORPHA:1427
HP:0010674	Abnormal curvature of the vertebral column	10216	PRG4	ORPHA:2848
HP:0010674	Abnormal curvature of the vertebral column	57156	TMEM63C	OMIM:619966
HP:0010674	Abnormal curvature of the vertebral column	176	ACAN	OMIM:612813
HP:0010674	Abnormal curvature of the vertebral column	176	ACAN	OMIM:165800
HP:0010674	Abnormal curvature of the vertebral column	176	ACAN	ORPHA:171866
HP:0010674	Abnormal curvature of the vertebral column	4148	MATN3	ORPHA:156728
HP:0010674	Abnormal curvature of the vertebral column	4148	MATN3	OMIM:608728
HP:0010674	Abnormal curvature of the vertebral column	65082	VPS33A	ORPHA:505248
HP:0010674	Abnormal curvature of the vertebral column	55870	ASH1L	OMIM:617796
HP:0010674	Abnormal curvature of the vertebral column	7703	PCGF2	OMIM:618371
HP:0010674	Abnormal curvature of the vertebral column	1605	DAG1	ORPHA:280333
HP:0010674	Abnormal curvature of the vertebral column	1605	DAG1	OMIM:613818
HP:0010674	Abnormal curvature of the vertebral column	164	AP1G1	OMIM:619467
HP:0010674	Abnormal curvature of the vertebral column	84265	POLR3GL	OMIM:619234
HP:0010674	Abnormal curvature of the vertebral column	55697	VAC14	OMIM:617054
HP:0010674	Abnormal curvature of the vertebral column	5593	PRKG2	OMIM:619636
HP:0010674	Abnormal curvature of the vertebral column	145258	GSC	OMIM:602471
HP:0010674	Abnormal curvature of the vertebral column	55624	POMGNT1	ORPHA:370959
HP:0010674	Abnormal curvature of the vertebral column	83737	ITCH	OMIM:613385
HP:0010674	Abnormal curvature of the vertebral column	50485	SMARCAL1	ORPHA:1830
HP:0010674	Abnormal curvature of the vertebral column	50485	SMARCAL1	OMIM:242900
HP:0010674	Abnormal curvature of the vertebral column	3991	LIPE	OMIM:615980
HP:0010674	Abnormal curvature of the vertebral column	5339	PLEC	OMIM:613723
HP:0010674	Abnormal curvature of the vertebral column	124997	WDR81	OMIM:610185
HP:0010674	Abnormal curvature of the vertebral column	1593	CYP27A1	ORPHA:909
HP:0010674	Abnormal curvature of the vertebral column	404672	GTF2H5	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	833	CARS1	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	7737	RNF113A	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	136647	MPLKIP	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	6897	TARS1	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	2071	ERCC3	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	2961	GTF2E2	ORPHA:33364
HP:0010674	Abnormal curvature of the vertebral column	64132	XYLT2	ORPHA:85194
HP:0010674	Abnormal curvature of the vertebral column	91574	MTRFR	ORPHA:254930
HP:0010674	Abnormal curvature of the vertebral column	3094	HINT1	ORPHA:324442
HP:0010674	Abnormal curvature of the vertebral column	7841	MOGS	OMIM:606056
HP:0010674	Abnormal curvature of the vertebral column	7841	MOGS	ORPHA:79330
HP:0010674	Abnormal curvature of the vertebral column	10613	ERLIN1	ORPHA:401785
HP:0010674	Abnormal curvature of the vertebral column	10613	ERLIN1	OMIM:615681
HP:0010674	Abnormal curvature of the vertebral column	55969	RAB5IF	OMIM:616994
HP:0010674	Abnormal curvature of the vertebral column	5830	PEX5	OMIM:616716
HP:0010674	Abnormal curvature of the vertebral column	2799	GNS	OMIM:252940
HP:0010674	Abnormal curvature of the vertebral column	84700	MYO18B	OMIM:616549
HP:0010674	Abnormal curvature of the vertebral column	169792	GLIS3	OMIM:610199
HP:0010674	Abnormal curvature of the vertebral column	415	ARSL	ORPHA:79345
HP:0010674	Abnormal curvature of the vertebral column	10290	SPEG	ORPHA:169186
HP:0010674	Abnormal curvature of the vertebral column	22947	DUX4L1	ORPHA:269
HP:0010674	Abnormal curvature of the vertebral column	1789	DNMT3B	ORPHA:269
HP:0010674	Abnormal curvature of the vertebral column	2483	FRG1	ORPHA:269
HP:0010674	Abnormal curvature of the vertebral column	23347	SMCHD1	ORPHA:269
HP:0010674	Abnormal curvature of the vertebral column	100288687	DUX4	ORPHA:269
HP:0010674	Abnormal curvature of the vertebral column	8291	DYSF	ORPHA:268
HP:0010674	Abnormal curvature of the vertebral column	825	CAPN3	ORPHA:267
HP:0010674	Abnormal curvature of the vertebral column	825	CAPN3	OMIM:618129
HP:0010674	Abnormal curvature of the vertebral column	613	BCR	ORPHA:261330
HP:0010674	Abnormal curvature of the vertebral column	1399	CRKL	ORPHA:261330
HP:0010674	Abnormal curvature of the vertebral column	5818	NECTIN1	ORPHA:3253
HP:0010674	Abnormal curvature of the vertebral column	6335	SCN9A	ORPHA:970
HP:0010674	Abnormal curvature of the vertebral column	65125	WNK1	ORPHA:970
HP:0010674	Abnormal curvature of the vertebral column	54463	RETREG1	ORPHA:970
HP:0010674	Abnormal curvature of the vertebral column	547	KIF1A	ORPHA:970
HP:0010674	Abnormal curvature of the vertebral column	9451	EIF2AK3	OMIM:226980
HP:0010674	Abnormal curvature of the vertebral column	2783	GNB2	OMIM:619503
HP:0010674	Abnormal curvature of the vertebral column	8493	PPM1D	OMIM:617450
HP:0010674	Abnormal curvature of the vertebral column	5293	PIK3CD	ORPHA:221139
HP:0010674	Abnormal curvature of the vertebral column	90417	KNSTRN	ORPHA:221139
HP:0010674	Abnormal curvature of the vertebral column	1785	DNM2	OMIM:160150
HP:0010674	Abnormal curvature of the vertebral column	64419	MTMR14	OMIM:160150
HP:0010674	Abnormal curvature of the vertebral column	3178	HNRNPA1	ORPHA:52430
HP:0010674	Abnormal curvature of the vertebral column	3181	HNRNPA2B1	ORPHA:52430
HP:0010674	Abnormal curvature of the vertebral column	7030	TFE3	OMIM:301066
HP:0010674	Abnormal curvature of the vertebral column	83452	RAB33B	OMIM:615222
HP:0010674	Abnormal curvature of the vertebral column	1009	CDH11	ORPHA:1299
HP:0010674	Abnormal curvature of the vertebral column	25871	NEPRO	OMIM:618853
HP:0010674	Abnormal curvature of the vertebral column	10940	POP1	OMIM:617396
HP:0010674	Abnormal curvature of the vertebral column	4247	MGAT2	OMIM:212066
HP:0010674	Abnormal curvature of the vertebral column	8022	LHX3	ORPHA:231720
HP:0010674	Abnormal curvature of the vertebral column	79158	GNPTAB	OMIM:252500
HP:0010674	Abnormal curvature of the vertebral column	10533	ATG7	OMIM:619422
HP:0010674	Abnormal curvature of the vertebral column	51199	NIN	OMIM:614851
HP:0010674	Abnormal curvature of the vertebral column	51199	NIN	ORPHA:319675
HP:0010674	Abnormal curvature of the vertebral column	57465	TBC1D24	ORPHA:79500
HP:0010674	Abnormal curvature of the vertebral column	3373	HYAL1	OMIM:601492
HP:0010674	Abnormal curvature of the vertebral column	4882	NPR2	OMIM:602875
HP:0010674	Abnormal curvature of the vertebral column	116931	MED12L	OMIM:618872
HP:0010674	Abnormal curvature of the vertebral column	4125	MAN2B1	OMIM:248500
HP:0010674	Abnormal curvature of the vertebral column	83932	SPRTN	OMIM:616200
HP:0010674	Abnormal curvature of the vertebral column	1674	DES	ORPHA:98909
HP:0010674	Abnormal curvature of the vertebral column	57211	ADGRG6	OMIM:616503
HP:0010674	Abnormal curvature of the vertebral column	29920	PYCR2	ORPHA:481152
HP:0010674	Abnormal curvature of the vertebral column	111	ADCY5	OMIM:606703
HP:0010674	Abnormal curvature of the vertebral column	27235	COQ2	ORPHA:227510
HP:0010674	Abnormal curvature of the vertebral column	27235	COQ2	ORPHA:98933
HP:0010674	Abnormal curvature of the vertebral column	10463	SLC30A9	OMIM:617595
HP:0010679	Elevated tissue non-specific alkaline phosphatase	2859	GPR35	ORPHA:171
HP:0010679	Elevated tissue non-specific alkaline phosphatase	10507	SEMA4D	ORPHA:171
HP:0010679	Elevated tissue non-specific alkaline phosphatase	4485	MST1	ORPHA:171
HP:0010679	Elevated tissue non-specific alkaline phosphatase	6925	TCF4	ORPHA:171
HP:0010679	Elevated tissue non-specific alkaline phosphatase	4883	NPR3	OMIM:619543
HP:0010679	Elevated tissue non-specific alkaline phosphatase	142680	SLC34A3	ORPHA:157215
HP:0010679	Elevated tissue non-specific alkaline phosphatase	6569	SLC34A1	ORPHA:157215
HP:0010679	Elevated tissue non-specific alkaline phosphatase	1758	DMP1	ORPHA:289176
HP:0010679	Elevated tissue non-specific alkaline phosphatase	5167	ENPP1	ORPHA:289176
HP:0010679	Elevated tissue non-specific alkaline phosphatase	5167	ENPP1	ORPHA:51608
HP:0010679	Elevated tissue non-specific alkaline phosphatase	368	ABCC6	ORPHA:51608
HP:0010679	Elevated tissue non-specific alkaline phosphatase	1594	CYP27B1	ORPHA:289157
HP:0010679	Elevated tissue non-specific alkaline phosphatase	120227	CYP2R1	ORPHA:289157
HP:0010679	Elevated tissue non-specific alkaline phosphatase	2099	ESR1	OMIM:615363
HP:0010679	Elevated tissue non-specific alkaline phosphatase	4882	NPR2	OMIM:615923
HP:0010679	Elevated tissue non-specific alkaline phosphatase	1497	CTNS	ORPHA:411634
HP:0010679	Elevated tissue non-specific alkaline phosphatase	7415	VCP	OMIM:167320
HP:0010679	Elevated tissue non-specific alkaline phosphatase	84317	CCDC115	OMIM:616828
HP:0010677	Enuresis nocturna	79152	FA2H	ORPHA:171629
HP:0010677	Enuresis nocturna	554	AVPR2	ORPHA:223
HP:0010677	Enuresis nocturna	359	AQP2	ORPHA:223
HP:0010677	Enuresis nocturna	23394	ADNP	OMIM:615873
HP:0010677	Enuresis nocturna	5575	PRKAR1B	OMIM:619680
HP:0010677	Enuresis nocturna	649	BMP1	OMIM:614856
HP:0010677	Enuresis nocturna	54796	BNC2	ORPHA:93110
HP:0010677	Enuresis nocturna	165918	RNF168	ORPHA:420741
HP:0010677	Enuresis nocturna	6524	SLC5A2	OMIM:233100
HP:0010677	Enuresis nocturna	339855	KY	OMIM:617114
HP:0200084	Giant cell hepatitis	23600	AMACR	ORPHA:79095
HP:0200084	Giant cell hepatitis	23600	AMACR	OMIM:214950
HP:0200084	Giant cell hepatitis	80270	HSD3B7	OMIM:607765
HP:0200084	Giant cell hepatitis	63894	VIPAS39	OMIM:613404
HP:0200084	Giant cell hepatitis	26276	VPS33B	OMIM:208085
HP:0200084	Giant cell hepatitis	6718	AKR1D1	ORPHA:79303
HP:0200083	Severe limb shortening	9321	TRIP11	OMIM:200600
HP:0200083	Severe limb shortening	1280	COL2A1	OMIM:151210
HP:0007621	Telangiectasia of extensor surfaces	54345	SOX18	OMIM:137940
HP:0007623	Pigmentation anomalies of sun-exposed skin	2074	ERCC6	OMIM:600630
HP:0000460	Narrow nose	54	ACP5	OMIM:607944
HP:0000460	Narrow nose	8243	SMC1A	OMIM:301044
HP:0000460	Narrow nose	23483	TGDS	OMIM:616145
HP:0000460	Narrow nose	92002	CCNQ	OMIM:300707
HP:0000460	Narrow nose	1161	ERCC8	ORPHA:90324
HP:0000460	Narrow nose	2074	ERCC6	ORPHA:90324
HP:0000460	Narrow nose	9968	MED12	OMIM:309520
HP:0000460	Narrow nose	4000	LMNA	OMIM:212112
HP:0000460	Narrow nose	8626	TP63	OMIM:129400
HP:0000460	Narrow nose	11128	POLR3A	OMIM:264090
HP:0000460	Narrow nose	8295	TRRAP	OMIM:618454
HP:0000460	Narrow nose	91179	SCARF2	OMIM:600920
HP:0000460	Narrow nose	5159	PDGFRB	OMIM:601812
HP:0000460	Narrow nose	100151683	RNU4ATAC	OMIM:616651
HP:0000460	Narrow nose	4921	DDR2	OMIM:618175
HP:0000460	Narrow nose	833	CARS1	OMIM:618891
HP:0000460	Narrow nose	25	ABL1	OMIM:617602
HP:0000460	Narrow nose	10525	HYOU1	OMIM:233600
HP:0000460	Narrow nose	7291	TWIST1	OMIM:101400
HP:0000460	Narrow nose	7291	TWIST1	OMIM:180750
HP:0000460	Narrow nose	2263	FGFR2	OMIM:101400
HP:0000460	Narrow nose	23314	SATB2	OMIM:612313
HP:0000460	Narrow nose	2138	EYA1	OMIM:166780
HP:0000460	Narrow nose	5426	POLE	OMIM:618336
HP:0000460	Narrow nose	1289	COL5A1	OMIM:619329
HP:0000460	Narrow nose	2697	GJA1	OMIM:164200
HP:0000460	Narrow nose	2697	GJA1	OMIM:257850
HP:0000460	Narrow nose	2200	FBN1	OMIM:616914
HP:0000464	Abnormality of the neck	5727	PTCH1	ORPHA:377
HP:0000464	Abnormality of the neck	8643	PTCH2	ORPHA:377
HP:0000464	Abnormality of the neck	51684	SUFU	ORPHA:377
HP:0000464	Abnormality of the neck	10269	ZMPSTE24	OMIM:608612
HP:0000464	Abnormality of the neck	3852	KRT5	ORPHA:158681
HP:0000464	Abnormality of the neck	3852	KRT5	ORPHA:79145
HP:0000464	Abnormality of the neck	124997	WDR81	OMIM:610185
HP:0000464	Abnormality of the neck	1593	CYP27A1	ORPHA:909
HP:0000464	Abnormality of the neck	6804	STX1A	ORPHA:904
HP:0000464	Abnormality of the neck	7461	CLIP2	ORPHA:904
HP:0000464	Abnormality of the neck	84277	DNAJC30	ORPHA:904
HP:0000464	Abnormality of the neck	8468	FKBP6	ORPHA:904
HP:0000464	Abnormality of the neck	5982	RFC2	ORPHA:904
HP:0000464	Abnormality of the neck	2969	GTF2I	ORPHA:904
HP:0000464	Abnormality of the neck	3984	LIMK1	ORPHA:904
HP:0000464	Abnormality of the neck	9569	GTF2IRD1	ORPHA:904
HP:0000464	Abnormality of the neck	155382	VPS37D	ORPHA:904
HP:0000464	Abnormality of the neck	155368	METTL27	ORPHA:904
HP:0000464	Abnormality of the neck	114049	BUD23	ORPHA:904
HP:0000464	Abnormality of the neck	7458	EIF4H	ORPHA:904
HP:0000464	Abnormality of the neck	84163	GTF2IRD2	ORPHA:904
HP:0000464	Abnormality of the neck	9275	BCL7B	ORPHA:904
HP:0000464	Abnormality of the neck	26608	TBL2	ORPHA:904
HP:0000464	Abnormality of the neck	653361	NCF1	ORPHA:904
HP:0000464	Abnormality of the neck	135886	TMEM270	ORPHA:904
HP:0000464	Abnormality of the neck	51085	MLXIPL	ORPHA:904
HP:0000464	Abnormality of the neck	9031	BAZ1B	ORPHA:904
HP:0000464	Abnormality of the neck	2006	ELN	ORPHA:904
HP:0000464	Abnormality of the neck	5590	PRKCZ	ORPHA:1606
HP:0000464	Abnormality of the neck	2563	GABRD	ORPHA:1606
HP:0000464	Abnormality of the neck	23013	SPEN	ORPHA:1606
HP:0000464	Abnormality of the neck	8510	MMP23B	ORPHA:1606
HP:0000464	Abnormality of the neck	7798	LUZP1	ORPHA:1606
HP:0000464	Abnormality of the neck	6497	SKI	ORPHA:1606
HP:0000464	Abnormality of the neck	10630	PDPN	ORPHA:1606
HP:0000464	Abnormality of the neck	3339	HSPG2	ORPHA:1606
HP:0000464	Abnormality of the neck	10277	UBE4B	ORPHA:1606
HP:0000464	Abnormality of the neck	8514	KCNAB2	ORPHA:1606
HP:0000464	Abnormality of the neck	473	RERE	ORPHA:1606
HP:0000464	Abnormality of the neck	63976	PRDM16	ORPHA:1606
HP:0000464	Abnormality of the neck	54897	CASZ1	ORPHA:1606
HP:0000464	Abnormality of the neck	4210	MEFV	ORPHA:3243
HP:0000464	Abnormality of the neck	4035	LRP1	ORPHA:79100
HP:0000464	Abnormality of the neck	2010	EMD	OMIM:310300
HP:0000464	Abnormality of the neck	56983	POGLUT1	ORPHA:79145
HP:0000464	Abnormality of the neck	23509	POFUT1	ORPHA:79145
HP:0000464	Abnormality of the neck	55851	PSENEN	ORPHA:79145
HP:0000464	Abnormality of the neck	5728	PTEN	ORPHA:744
HP:0000464	Abnormality of the neck	207	AKT1	ORPHA:744
HP:0000464	Abnormality of the neck	8838	CCN6	ORPHA:1159
HP:0000464	Abnormality of the neck	5290	PIK3CA	OMIM:612918
HP:0000464	Abnormality of the neck	9780	PIEZO1	OMIM:616843
HP:0000464	Abnormality of the neck	6885	MAP3K7	OMIM:617137
HP:0000464	Abnormality of the neck	8854	ALDH1A2	OMIM:620025
HP:0000464	Abnormality of the neck	2624	GATA2	OMIM:614038
HP:0000464	Abnormality of the neck	23291	FBXW11	OMIM:618914
HP:0000464	Abnormality of the neck	998	CDC42	OMIM:616737
HP:0000464	Abnormality of the neck	998	CDC42	ORPHA:487796
HP:0000464	Abnormality of the neck	10559	SLC35A1	OMIM:603585
HP:0000464	Abnormality of the neck	7080	NKX2-1	ORPHA:209905
HP:0000464	Abnormality of the neck	54880	BCOR	ORPHA:568
HP:0000464	Abnormality of the neck	54880	BCOR	OMIM:309800
HP:0000464	Abnormality of the neck	55636	CHD7	OMIM:214800
HP:0000464	Abnormality of the neck	6628	SNRPB	OMIM:117650
HP:0000464	Abnormality of the neck	6628	SNRPB	ORPHA:1393
HP:0000464	Abnormality of the neck	55617	TASP1	OMIM:618950
HP:0000464	Abnormality of the neck	9772	TMEM94	OMIM:618316
HP:0000464	Abnormality of the neck	139285	AMER1	OMIM:300373
HP:0000464	Abnormality of the neck	7994	KAT6A	OMIM:616268
HP:0000464	Abnormality of the neck	54916	TMEM260	OMIM:617478
HP:0000464	Abnormality of the neck	91252	SLC39A13	OMIM:612350
HP:0000464	Abnormality of the neck	3480	IGF1R	OMIM:270450
HP:0000464	Abnormality of the neck	9241	NOG	OMIM:184460
HP:0000464	Abnormality of the neck	6335	SCN9A	ORPHA:33069
HP:0000464	Abnormality of the neck	6326	SCN2A	ORPHA:33069
HP:0000464	Abnormality of the neck	2554	GABRA1	ORPHA:33069
HP:0000464	Abnormality of the neck	6324	SCN1B	ORPHA:33069
HP:0000464	Abnormality of the neck	57526	PCDH19	ORPHA:33069
HP:0000464	Abnormality of the neck	2566	GABRG2	ORPHA:33069
HP:0000464	Abnormality of the neck	3991	LIPE	ORPHA:435660
HP:0000464	Abnormality of the neck	11253	MAN1B1	ORPHA:397941
HP:0000464	Abnormality of the neck	11253	MAN1B1	OMIM:614202
HP:0000464	Abnormality of the neck	8367	H4C5	OMIM:619950
HP:0000464	Abnormality of the neck	2972	BRF1	OMIM:616202
HP:0000464	Abnormality of the neck	2972	BRF1	ORPHA:444072
HP:0000464	Abnormality of the neck	9820	CUL7	ORPHA:2616
HP:0000464	Abnormality of the neck	9820	CUL7	OMIM:273750
HP:0000464	Abnormality of the neck	23363	OBSL1	ORPHA:2616
HP:0000464	Abnormality of the neck	23363	OBSL1	OMIM:612921
HP:0000464	Abnormality of the neck	83987	CCDC8	ORPHA:2616
HP:0000464	Abnormality of the neck	83987	CCDC8	OMIM:614205
HP:0000464	Abnormality of the neck	55627	SMPD4	OMIM:618622
HP:0000464	Abnormality of the neck	5361	PLXNA1	OMIM:619955
HP:0000464	Abnormality of the neck	4125	MAN2B1	ORPHA:309282
HP:0000464	Abnormality of the neck	6662	SOX9	ORPHA:140
HP:0000464	Abnormality of the neck	341640	FREM2	OMIM:617666
HP:0000464	Abnormality of the neck	2201	FBN2	OMIM:121050
HP:0000464	Abnormality of the neck	84572	GNPTG	OMIM:252605
HP:0000464	Abnormality of the neck	6023	RMRP	ORPHA:175
HP:0000464	Abnormality of the neck	6023	RMRP	OMIM:607095
HP:0000464	Abnormality of the neck	83696	TRAPPC9	OMIM:613192
HP:0000464	Abnormality of the neck	1020	CDK5	OMIM:616342
HP:0000464	Abnormality of the neck	10606	PAICS	OMIM:619859
HP:0000464	Abnormality of the neck	4853	NOTCH2	OMIM:102500
HP:0000464	Abnormality of the neck	4853	NOTCH2	ORPHA:955
HP:0000464	Abnormality of the neck	55681	SCYL2	OMIM:618766
HP:0000464	Abnormality of the neck	64359	NXN	ORPHA:1507
HP:0000464	Abnormality of the neck	4920	ROR2	ORPHA:1507
HP:0000464	Abnormality of the neck	4920	ROR2	OMIM:268310
HP:0000464	Abnormality of the neck	2626	GATA4	ORPHA:251071
HP:0000464	Abnormality of the neck	1501	CTNND2	ORPHA:281
HP:0000464	Abnormality of the neck	9037	SEMA5A	ORPHA:281
HP:0000464	Abnormality of the neck	1301	COL11A1	OMIM:228520
HP:0000464	Abnormality of the neck	1301	COL11A1	ORPHA:2021
HP:0000464	Abnormality of the neck	93627	TBCK	ORPHA:488632
HP:0000464	Abnormality of the neck	10716	TBR1	ORPHA:1617
HP:0000464	Abnormality of the neck	26040	SETBP1	OMIM:269150
HP:0000464	Abnormality of the neck	26040	SETBP1	ORPHA:798
HP:0000464	Abnormality of the neck	4247	MGAT2	OMIM:212066
HP:0000464	Abnormality of the neck	92482	BBIP1	ORPHA:110
HP:0000464	Abnormality of the neck	80184	CEP290	ORPHA:110
HP:0000464	Abnormality of the neck	11020	IFT27	ORPHA:110
HP:0000464	Abnormality of the neck	582	BBS1	ORPHA:110
HP:0000464	Abnormality of the neck	49855	SCAPER	ORPHA:110
HP:0000464	Abnormality of the neck	4867	NPHP1	ORPHA:110
HP:0000464	Abnormality of the neck	51057	WDPCP	ORPHA:110
HP:0000464	Abnormality of the neck	27241	BBS9	ORPHA:110
HP:0000464	Abnormality of the neck	84984	CEP19	ORPHA:110
HP:0000464	Abnormality of the neck	22954	TRIM32	ORPHA:110
HP:0000464	Abnormality of the neck	54903	MKS1	ORPHA:110
HP:0000464	Abnormality of the neck	54903	MKS1	OMIM:249000
HP:0000464	Abnormality of the neck	79738	BBS10	ORPHA:110
HP:0000464	Abnormality of the neck	123016	TTC8	ORPHA:110
HP:0000464	Abnormality of the neck	26160	IFT172	ORPHA:110
HP:0000464	Abnormality of the neck	583	BBS2	ORPHA:110
HP:0000464	Abnormality of the neck	585	BBS4	ORPHA:110
HP:0000464	Abnormality of the neck	8195	MKKS	ORPHA:110
HP:0000464	Abnormality of the neck	54585	LZTFL1	ORPHA:110
HP:0000464	Abnormality of the neck	55212	BBS7	ORPHA:110
HP:0000464	Abnormality of the neck	166379	BBS12	ORPHA:110
HP:0000464	Abnormality of the neck	10806	SDCCAG8	ORPHA:110
HP:0000464	Abnormality of the neck	157657	CFAP418	ORPHA:110
HP:0000464	Abnormality of the neck	84100	ARL6	ORPHA:110
HP:0000464	Abnormality of the neck	129880	BBS5	ORPHA:110
HP:0000464	Abnormality of the neck	80173	IFT74	ORPHA:110
HP:0000464	Abnormality of the neck	63895	PIEZO2	OMIM:114300
HP:0000464	Abnormality of the neck	63895	PIEZO2	OMIM:248700
HP:0000464	Abnormality of the neck	23126	POGZ	OMIM:616364
HP:0000464	Abnormality of the neck	23126	POGZ	ORPHA:468678
HP:0000464	Abnormality of the neck	51633	OTUD6B	OMIM:617452
HP:0000464	Abnormality of the neck	51633	OTUD6B	ORPHA:505237
HP:0000464	Abnormality of the neck	3572	IL6ST	OMIM:619750
HP:0000464	Abnormality of the neck	5048	PAFAH1B1	ORPHA:217385
HP:0000464	Abnormality of the neck	7531	YWHAE	ORPHA:217385
HP:0000464	Abnormality of the neck	92609	TIMM50	OMIM:617698
HP:0000464	Abnormality of the neck	79770	TXNDC15	OMIM:619879
HP:0000464	Abnormality of the neck	2990	GUSB	ORPHA:584
HP:0000464	Abnormality of the neck	2990	GUSB	OMIM:253220
HP:0000464	Abnormality of the neck	79718	TBL1XR1	OMIM:602342
HP:0000464	Abnormality of the neck	79718	TBL1XR1	ORPHA:487825
HP:0000464	Abnormality of the neck	8314	BAP1	OMIM:619762
HP:0000464	Abnormality of the neck	50485	SMARCAL1	ORPHA:1830
HP:0000464	Abnormality of the neck	50485	SMARCAL1	OMIM:242900
HP:0000464	Abnormality of the neck	79728	PALB2	OMIM:610832
HP:0000464	Abnormality of the neck	6925	TCF4	OMIM:610954
HP:0000464	Abnormality of the neck	6925	TCF4	ORPHA:2896
HP:0000464	Abnormality of the neck	91949	COG7	ORPHA:79333
HP:0000464	Abnormality of the neck	91949	COG7	OMIM:608779
HP:0000464	Abnormality of the neck	6473	SHOX	ORPHA:314795
HP:0000464	Abnormality of the neck	124583	CANT1	OMIM:251450
HP:0000464	Abnormality of the neck	124583	CANT1	ORPHA:1425
HP:0000464	Abnormality of the neck	56975	FAM20C	ORPHA:1832
HP:0000464	Abnormality of the neck	56975	FAM20C	OMIM:259775
HP:0000464	Abnormality of the neck	2239	GPC4	ORPHA:373
HP:0000464	Abnormality of the neck	2719	GPC3	ORPHA:373
HP:0000464	Abnormality of the neck	55120	FANCL	OMIM:614083
HP:0000464	Abnormality of the neck	3423	IDS	OMIM:309900
HP:0000464	Abnormality of the neck	259232	NALCN	OMIM:616266
HP:0000464	Abnormality of the neck	259232	NALCN	ORPHA:1147
HP:0000464	Abnormality of the neck	259232	NALCN	ORPHA:371364
HP:0000464	Abnormality of the neck	2260	FGFR1	OMIM:166250
HP:0000464	Abnormality of the neck	2720	GLB1	OMIM:230500
HP:0000464	Abnormality of the neck	2317	FLNB	OMIM:272460
HP:0000464	Abnormality of the neck	2317	FLNB	OMIM:108721
HP:0000464	Abnormality of the neck	2317	FLNB	OMIM:108720
HP:0000464	Abnormality of the neck	2778	GNAS	ORPHA:79443
HP:0000464	Abnormality of the neck	2778	GNAS	ORPHA:79444
HP:0000464	Abnormality of the neck	2778	GNAS	ORPHA:94089
HP:0000464	Abnormality of the neck	2778	GNAS	OMIM:612463
HP:0000464	Abnormality of the neck	2778	GNAS	OMIM:612462
HP:0000464	Abnormality of the neck	2778	GNAS	OMIM:103580
HP:0000464	Abnormality of the neck	6135	RPL11	ORPHA:124
HP:0000464	Abnormality of the neck	6138	RPL15	ORPHA:124
HP:0000464	Abnormality of the neck	6229	RPS24	ORPHA:124
HP:0000464	Abnormality of the neck	6125	RPL5	ORPHA:124
HP:0000464	Abnormality of the neck	6204	RPS10	ORPHA:124
HP:0000464	Abnormality of the neck	6224	RPS20	ORPHA:124
HP:0000464	Abnormality of the neck	6165	RPL35A	ORPHA:124
HP:0000464	Abnormality of the neck	6223	RPS19	ORPHA:124
HP:0000464	Abnormality of the neck	6223	RPS19	OMIM:105650
HP:0000464	Abnormality of the neck	6232	RPS27	ORPHA:124
HP:0000464	Abnormality of the neck	11224	RPL35	ORPHA:124
HP:0000464	Abnormality of the neck	6160	RPL31	ORPHA:124
HP:0000464	Abnormality of the neck	6218	RPS17	ORPHA:124
HP:0000464	Abnormality of the neck	6201	RPS7	ORPHA:124
HP:0000464	Abnormality of the neck	6155	RPL27	ORPHA:124
HP:0000464	Abnormality of the neck	6154	RPL26	ORPHA:124
HP:0000464	Abnormality of the neck	6210	RPS15A	ORPHA:124
HP:0000464	Abnormality of the neck	90121	TSR2	ORPHA:124
HP:0000464	Abnormality of the neck	6141	RPL18	ORPHA:124
HP:0000464	Abnormality of the neck	6235	RPS29	ORPHA:124
HP:0000464	Abnormality of the neck	51816	ADA2	ORPHA:124
HP:0000464	Abnormality of the neck	6261	RYR1	OMIM:619542
HP:0000464	Abnormality of the neck	9742	IFT140	OMIM:266920
HP:0000464	Abnormality of the neck	54101	RIPK4	OMIM:263650
HP:0000464	Abnormality of the neck	26173	INTS1	OMIM:618571
HP:0000464	Abnormality of the neck	9427	ECEL1	OMIM:615065
HP:0000464	Abnormality of the neck	93587	TRMT10A	OMIM:616033
HP:0000464	Abnormality of the neck	93587	TRMT10A	ORPHA:391408
HP:0000464	Abnormality of the neck	54808	DYM	ORPHA:239
HP:0000464	Abnormality of the neck	54808	DYM	OMIM:607326
HP:0000464	Abnormality of the neck	54808	DYM	OMIM:223800
HP:0000464	Abnormality of the neck	2879	GPX4	OMIM:250220
HP:0000464	Abnormality of the neck	9949	AMMECR1	OMIM:300990
HP:0000464	Abnormality of the neck	4921	DDR2	OMIM:271665
HP:0000464	Abnormality of the neck	22827	PUF60	ORPHA:508498
HP:0000464	Abnormality of the neck	22827	PUF60	ORPHA:508488
HP:0000464	Abnormality of the neck	22827	PUF60	OMIM:615583
HP:0000464	Abnormality of the neck	65992	DDRGK1	OMIM:602557
HP:0000464	Abnormality of the neck	65992	DDRGK1	ORPHA:93352
HP:0000464	Abnormality of the neck	10466	COG5	ORPHA:263487
HP:0000464	Abnormality of the neck	6909	TBX2	OMIM:618223
HP:0000464	Abnormality of the neck	2187	FANCB	OMIM:300514
HP:0000464	Abnormality of the neck	23314	SATB2	ORPHA:251028
HP:0000464	Abnormality of the neck	8675	STX16	ORPHA:94089
HP:0000464	Abnormality of the neck	55215	FANCI	OMIM:609053
HP:0000464	Abnormality of the neck	5010	CLDN11	OMIM:619328
HP:0000464	Abnormality of the neck	176	ACAN	OMIM:612813
HP:0000464	Abnormality of the neck	176	ACAN	ORPHA:171866
HP:0000464	Abnormality of the neck	79068	FTO	OMIM:612938
HP:0000464	Abnormality of the neck	3417	IDH1	ORPHA:99646
HP:0000464	Abnormality of the neck	3039	HBA1	ORPHA:98791
HP:0000464	Abnormality of the neck	3040	HBA2	ORPHA:98791
HP:0000464	Abnormality of the neck	10940	POP1	OMIM:617396
HP:0000464	Abnormality of the neck	10082	GPC6	OMIM:258315
HP:0000464	Abnormality of the neck	23389	MED13L	ORPHA:369891
HP:0000464	Abnormality of the neck	23389	MED13L	OMIM:616789
HP:0000464	Abnormality of the neck	1312	COMT	ORPHA:567
HP:0000464	Abnormality of the neck	221037	JMJD1C	ORPHA:567
HP:0000464	Abnormality of the neck	2812	GP1BB	ORPHA:567
HP:0000464	Abnormality of the neck	6239	RREB1	ORPHA:567
HP:0000464	Abnormality of the neck	6899	TBX1	ORPHA:567
HP:0000464	Abnormality of the neck	7290	HIRA	ORPHA:567
HP:0000464	Abnormality of the neck	9632	SEC24C	ORPHA:567
HP:0000464	Abnormality of the neck	7353	UFD1	ORPHA:567
HP:0000464	Abnormality of the neck	421	ARVCF	ORPHA:567
HP:0000464	Abnormality of the neck	3977	LIFR	OMIM:601559
HP:0000464	Abnormality of the neck	5277	PIGA	OMIM:300868
HP:0000464	Abnormality of the neck	9244	CRLF1	OMIM:272430
HP:0000464	Abnormality of the neck	29895	MYL11	OMIM:619110
HP:0000464	Abnormality of the neck	26005	C2CD3	ORPHA:434179
HP:0000464	Abnormality of the neck	3636	INPPL1	OMIM:258480
HP:0000464	Abnormality of the neck	3636	INPPL1	ORPHA:3144
HP:0000464	Abnormality of the neck	203068	TUBB	OMIM:156610
HP:0000464	Abnormality of the neck	6872	TAF1	OMIM:300966
HP:0000464	Abnormality of the neck	51715	RAB23	OMIM:201000
HP:0000464	Abnormality of the neck	23233	EXOC6B	OMIM:618395
HP:0000464	Abnormality of the neck	8450	CUL4B	ORPHA:85293
HP:0000464	Abnormality of the neck	23169	SLC35D1	OMIM:269250
HP:0000464	Abnormality of the neck	23169	SLC35D1	ORPHA:3144
HP:0000464	Abnormality of the neck	84919	PPP1R15B	ORPHA:391408
HP:0000464	Abnormality of the neck	2799	GNS	OMIM:252940
HP:0000464	Abnormality of the neck	89970	RSPRY1	ORPHA:457395
HP:0000464	Abnormality of the neck	89970	RSPRY1	OMIM:616723
HP:0000464	Abnormality of the neck	2733	GLE1	OMIM:611890
HP:0000464	Abnormality of the neck	2733	GLE1	ORPHA:1486
HP:0000464	Abnormality of the neck	51594	NBAS	OMIM:614800
HP:0000464	Abnormality of the neck	168667	BMPER	ORPHA:66637
HP:0000464	Abnormality of the neck	168667	BMPER	OMIM:608022
HP:0000464	Abnormality of the neck	4683	NBN	ORPHA:647
HP:0000464	Abnormality of the neck	7474	WNT5A	OMIM:180700
HP:0000464	Abnormality of the neck	7474	WNT5A	ORPHA:3107
HP:0000464	Abnormality of the neck	1855	DVL1	OMIM:180700
HP:0000464	Abnormality of the neck	1855	DVL1	ORPHA:3107
HP:0000464	Abnormality of the neck	84842	HPDL	OMIM:619026
HP:0000464	Abnormality of the neck	8022	LHX3	ORPHA:231720
HP:0000464	Abnormality of the neck	8022	LHX3	ORPHA:226307
HP:0000464	Abnormality of the neck	8022	LHX3	OMIM:221750
HP:0000464	Abnormality of the neck	51109	RDH11	ORPHA:436245
HP:0000464	Abnormality of the neck	6399	TRAPPC2	ORPHA:93284
HP:0000464	Abnormality of the neck	6399	TRAPPC2	OMIM:313400
HP:0000464	Abnormality of the neck	9131	AIFM1	OMIM:300232
HP:0000464	Abnormality of the neck	5393	EXOSC9	OMIM:618065
HP:0000464	Abnormality of the neck	26128	KIFBP	OMIM:609460
HP:0000464	Abnormality of the neck	118429	ANTXR2	ORPHA:2176
HP:0000464	Abnormality of the neck	7169	TPM2	ORPHA:171436
HP:0000464	Abnormality of the neck	7169	TPM2	ORPHA:1147
HP:0000464	Abnormality of the neck	4703	NEB	ORPHA:171436
HP:0000464	Abnormality of the neck	10324	KLHL41	ORPHA:171436
HP:0000464	Abnormality of the neck	56203	LMOD3	ORPHA:171436
HP:0000464	Abnormality of the neck	1073	CFL2	ORPHA:171436
HP:0000464	Abnormality of the neck	4010	LMX1B	ORPHA:495818
HP:0000464	Abnormality of the neck	6812	STXBP1	ORPHA:495818
HP:0000464	Abnormality of the neck	1717	DHCR7	ORPHA:818
HP:0000464	Abnormality of the neck	55780	ERMARD	ORPHA:75857
HP:0000464	Abnormality of the neck	10978	CLP1	OMIM:615803
HP:0000464	Abnormality of the neck	26153	KIF26A	OMIM:620156
HP:0000464	Abnormality of the neck	84992	PIGY	ORPHA:247262
HP:0000464	Abnormality of the neck	84992	PIGY	OMIM:616809
HP:0000464	Abnormality of the neck	84720	PIGO	ORPHA:247262
HP:0000464	Abnormality of the neck	93210	PGAP3	ORPHA:247262
HP:0000464	Abnormality of the neck	284098	PIGW	ORPHA:247262
HP:0000464	Abnormality of the neck	27315	PGAP2	ORPHA:247262
HP:0000464	Abnormality of the neck	55650	PIGV	ORPHA:247262
HP:0000464	Abnormality of the neck	9487	PIGL	ORPHA:247262
HP:0000464	Abnormality of the neck	3899	AFF3	OMIM:619297
HP:0000464	Abnormality of the neck	1009	CDH11	ORPHA:1299
HP:0000464	Abnormality of the neck	79867	TCTN2	OMIM:613885
HP:0000464	Abnormality of the neck	1302	COL11A2	ORPHA:2021
HP:0000464	Abnormality of the neck	1302	COL11A2	ORPHA:1427
HP:0000464	Abnormality of the neck	79053	ALG8	OMIM:608104
HP:0000464	Abnormality of the neck	3756	KCNH1	ORPHA:3473
HP:0000464	Abnormality of the neck	3782	KCNN3	ORPHA:3473
HP:0000464	Abnormality of the neck	3425	IDUA	OMIM:607014
HP:0000464	Abnormality of the neck	3425	IDUA	OMIM:607016
HP:0000464	Abnormality of the neck	3425	IDUA	ORPHA:93473
HP:0000464	Abnormality of the neck	6911	TBX6	OMIM:122600
HP:0000464	Abnormality of the neck	6911	TBX6	ORPHA:1797
HP:0000464	Abnormality of the neck	374654	KIF7	OMIM:607131
HP:0000464	Abnormality of the neck	9653	HS2ST1	OMIM:619194
HP:0000464	Abnormality of the neck	5626	PROP1	ORPHA:226307
HP:0000464	Abnormality of the neck	89884	LHX4	ORPHA:226307
HP:0000464	Abnormality of the neck	5449	POU1F1	ORPHA:226307
HP:0000464	Abnormality of the neck	8820	HESX1	ORPHA:226307
HP:0000464	Abnormality of the neck	1857	DVL3	ORPHA:3107
HP:0000464	Abnormality of the neck	1857	DVL3	OMIM:616894
HP:0000464	Abnormality of the neck	2535	FZD2	ORPHA:3107
HP:0000464	Abnormality of the neck	285175	UNC80	OMIM:616801
HP:0000464	Abnormality of the neck	285175	UNC80	ORPHA:371364
HP:0000464	Abnormality of the neck	10236	HNRNPR	OMIM:620073
HP:0000464	Abnormality of the neck	4089	SMAD4	OMIM:139210
HP:0000464	Abnormality of the neck	546	ATRX	OMIM:309580
HP:0000464	Abnormality of the neck	7140	TNNT3	ORPHA:1147
HP:0000464	Abnormality of the neck	7136	TNNI2	ORPHA:1147
HP:0000464	Abnormality of the neck	6611	SMS	OMIM:309583
HP:0000464	Abnormality of the neck	51322	WAC	OMIM:616708
HP:0000464	Abnormality of the neck	701	BUB1B	OMIM:257300
HP:0000464	Abnormality of the neck	2702	GJA5	OMIM:612474
HP:0000464	Abnormality of the neck	2703	GJA8	OMIM:612474
HP:0000464	Abnormality of the neck	51025	PAM16	OMIM:613320
HP:0000464	Abnormality of the neck	4352	MPL	ORPHA:3319
HP:0000464	Abnormality of the neck	7066	THPO	ORPHA:3319
HP:0000464	Abnormality of the neck	2245	FGD1	ORPHA:915
HP:0000464	Abnormality of the neck	2245	FGD1	OMIM:305400
HP:0000464	Abnormality of the neck	6888	TALDO1	OMIM:606003
HP:0000464	Abnormality of the neck	2261	FGFR3	OMIM:187600
HP:0000464	Abnormality of the neck	55906	ZC4H2	OMIM:301041
HP:0000464	Abnormality of the neck	55906	ZC4H2	OMIM:314580
HP:0000464	Abnormality of the neck	27238	GPKOW	ORPHA:2570
HP:0000464	Abnormality of the neck	579	NKX3-2	OMIM:613330
HP:0000464	Abnormality of the neck	2335	FN1	ORPHA:93315
HP:0000464	Abnormality of the neck	9759	HDAC4	ORPHA:1001
HP:0000464	Abnormality of the neck	113179	ADAT3	ORPHA:363528
HP:0000464	Abnormality of the neck	3313	HSPA9	OMIM:616854
HP:0000464	Abnormality of the neck	91869	RFT1	OMIM:612015
HP:0000464	Abnormality of the neck	4204	MECP2	OMIM:300055
HP:0000464	Abnormality of the neck	2068	ERCC2	ORPHA:1466
HP:0000464	Abnormality of the neck	2067	ERCC1	ORPHA:1466
HP:0000464	Abnormality of the neck	2074	ERCC6	ORPHA:1466
HP:0000464	Abnormality of the neck	2073	ERCC5	ORPHA:1466
HP:0000464	Abnormality of the neck	5925	RB1	ORPHA:1587
HP:0000464	Abnormality of the neck	23511	NUP188	OMIM:618804
HP:0000464	Abnormality of the neck	134701	RIPPLY2	ORPHA:2311
HP:0000464	Abnormality of the neck	3955	LFNG	ORPHA:2311
HP:0000464	Abnormality of the neck	64131	XYLT1	OMIM:615777
HP:0000464	Abnormality of the neck	64131	XYLT1	ORPHA:1425
HP:0000464	Abnormality of the neck	10943	MSL3	OMIM:301032
HP:0000464	Abnormality of the neck	55969	RAB5IF	OMIM:616994
HP:0000464	Abnormality of the neck	6638	SNRPN	ORPHA:177907
HP:0000464	Abnormality of the neck	10367	MICU1	OMIM:615673
HP:0000464	Abnormality of the neck	2588	GALNS	OMIM:253000
HP:0000464	Abnormality of the neck	54361	WNT4	ORPHA:247768
HP:0000464	Abnormality of the neck	91461	PKDCC	OMIM:618821
HP:0000464	Abnormality of the neck	6182	MRPL12	OMIM:618951
HP:0000464	Abnormality of the neck	202018	TAPT1	OMIM:616897
HP:0000464	Abnormality of the neck	1806	DPYD	ORPHA:1675
HP:0000464	Abnormality of the neck	28957	MRPS28	OMIM:618958
HP:0000464	Abnormality of the neck	10225	CD96	ORPHA:1308
HP:0000464	Abnormality of the neck	55790	CSGALNACT1	ORPHA:1425
HP:0000464	Abnormality of the neck	83452	RAB33B	OMIM:615222
HP:0000464	Abnormality of the neck	22861	NLRP1	OMIM:615225
HP:0000464	Abnormality of the neck	1630	DCC	ORPHA:2744
HP:0000464	Abnormality of the neck	8925	HERC1	ORPHA:457359
HP:0000464	Abnormality of the neck	8925	HERC1	OMIM:617011
HP:0000464	Abnormality of the neck	2316	FLNA	OMIM:309350
HP:0000464	Abnormality of the neck	2138	EYA1	OMIM:166780
HP:0000464	Abnormality of the neck	538	ATP7A	OMIM:304150
HP:0000464	Abnormality of the neck	11128	POLR3A	OMIM:264090
HP:0000464	Abnormality of the neck	2556	GABRA3	OMIM:301091
HP:0000464	Abnormality of the neck	58	ACTA1	ORPHA:97240
HP:0000464	Abnormality of the neck	10749	KIF1C	ORPHA:397946
HP:0000464	Abnormality of the neck	10749	KIF1C	OMIM:611302
HP:0000464	Abnormality of the neck	2643	GCH1	OMIM:128230
HP:0000464	Abnormality of the neck	2643	GCH1	ORPHA:98808
HP:0000464	Abnormality of the neck	2774	GNAL	OMIM:615073
HP:0000464	Abnormality of the neck	2774	GNAL	ORPHA:329466
HP:0000464	Abnormality of the neck	1356	CP	OMIM:604290
HP:0000464	Abnormality of the neck	1356	CP	ORPHA:48818
HP:0000464	Abnormality of the neck	478	ATP1A3	OMIM:128235
HP:0000464	Abnormality of the neck	478	ATP1A3	ORPHA:71517
HP:0000464	Abnormality of the neck	3208	HPCA	ORPHA:99657
HP:0000464	Abnormality of the neck	3208	HPCA	OMIM:224500
HP:0000464	Abnormality of the neck	5575	PRKAR1B	OMIM:619680
HP:0000464	Abnormality of the neck	55187	VPS13D	OMIM:607317
HP:0000464	Abnormality of the neck	91754	NEK9	OMIM:617022
HP:0000464	Abnormality of the neck	81790	RNF170	OMIM:619686
HP:0000464	Abnormality of the neck	387119	CEP85L	OMIM:618873
HP:0000464	Abnormality of the neck	3781	KCNN2	OMIM:619724
HP:0000464	Abnormality of the neck	1644	DDC	OMIM:608643
HP:0000464	Abnormality of the neck	64221	ROBO3	OMIM:607313
HP:0000464	Abnormality of the neck	63982	ANO3	ORPHA:420485
HP:0000464	Abnormality of the neck	63982	ANO3	OMIM:615034
HP:0000464	Abnormality of the neck	343641	TGM6	OMIM:613908
HP:0000464	Abnormality of the neck	343641	TGM6	ORPHA:276193
HP:0000464	Abnormality of the neck	8575	PRKRA	ORPHA:210571
HP:0000464	Abnormality of the neck	64601	VPS16	OMIM:619291
HP:0000464	Abnormality of the neck	25953	PNKD	OMIM:118800
HP:0000464	Abnormality of the neck	25953	PNKD	ORPHA:98810
HP:0000464	Abnormality of the neck	116228	COX20	OMIM:619054
HP:0000464	Abnormality of the neck	10381	TUBB3	ORPHA:300570
HP:0000464	Abnormality of the neck	54834	GDAP2	OMIM:618369
HP:0000464	Abnormality of the neck	23400	ATP13A2	OMIM:606693
HP:0000464	Abnormality of the neck	7703	PCGF2	OMIM:618371
HP:0000464	Abnormality of the neck	773	CACNA1A	ORPHA:97
HP:0000464	Abnormality of the neck	773	CACNA1A	ORPHA:71518
HP:0000464	Abnormality of the neck	1813	DRD2	ORPHA:36899
HP:0000464	Abnormality of the neck	8910	SGCE	ORPHA:36899
HP:0000464	Abnormality of the neck	8910	SGCE	OMIM:159900
HP:0000464	Abnormality of the neck	79734	KCTD17	ORPHA:36899
HP:0000464	Abnormality of the neck	79734	KCTD17	OMIM:616398
HP:0000464	Abnormality of the neck	1861	TOR1A	ORPHA:36899
HP:0000464	Abnormality of the neck	1861	TOR1A	OMIM:128100
HP:0000464	Abnormality of the neck	84504	NKX6-2	OMIM:617560
HP:0000464	Abnormality of the neck	10935	PRDX3	OMIM:619862
HP:0000464	Abnormality of the neck	9757	KMT2B	OMIM:617284
HP:0000464	Abnormality of the neck	9757	KMT2B	ORPHA:589618
HP:0000464	Abnormality of the neck	2313	FLI1	ORPHA:370348
HP:0000464	Abnormality of the neck	112476	PRRT2	ORPHA:98810
HP:0000464	Abnormality of the neck	1267	CNP	OMIM:619071
HP:0000464	Abnormality of the neck	8558	CDK10	OMIM:617694
HP:0000464	Abnormality of the neck	6711	SPTBN1	OMIM:619475
HP:0000464	Abnormality of the neck	4929	NR4A2	ORPHA:98808
HP:0000464	Abnormality of the neck	3615	IMPDH2	ORPHA:98808
HP:0000464	Abnormality of the neck	10382	TUBB4A	ORPHA:98805
HP:0000464	Abnormality of the neck	10382	TUBB4A	OMIM:128101
HP:0000464	Abnormality of the neck	7701	ZNF142	OMIM:618425
HP:0000464	Abnormality of the neck	55145	THAP1	ORPHA:98806
HP:0000464	Abnormality of the neck	55145	THAP1	OMIM:602629
HP:0000464	Abnormality of the neck	3098	HK1	OMIM:618547
HP:0000464	Abnormality of the neck	55823	VPS11	OMIM:619637
HP:0000464	Abnormality of the neck	3748	KCNC3	ORPHA:98768
HP:0000464	Abnormality of the neck	80036	TRPM3	OMIM:620224
HP:0000464	Abnormality of the neck	11198	SUPT16H	OMIM:619480
HP:0000464	Abnormality of the neck	78989	COLEC11	OMIM:265050
HP:0000464	Abnormality of the neck	128240	NAXE	OMIM:617186
HP:0000464	Abnormality of the neck	4617	MYF5	OMIM:618155
HP:0000464	Abnormality of the neck	6663	SOX10	OMIM:609136
HP:0000464	Abnormality of the neck	6908	TBP	ORPHA:98759
HP:0000464	Abnormality of the neck	126792	B3GALT6	ORPHA:536467
HP:0000464	Abnormality of the neck	2898	GRIK2	OMIM:611092
HP:0000464	Abnormality of the neck	256472	TMEM151A	OMIM:620245
HP:0000464	Abnormality of the neck	3679	ITGA7	OMIM:613204
HP:0000464	Abnormality of the neck	7042	TGFB2	OMIM:614816
HP:0000464	Abnormality of the neck	6342	SCP2	OMIM:613724
HP:0000464	Abnormality of the neck	59341	TRPV4	OMIM:181405
HP:0000464	Abnormality of the neck	10128	LRPPRC	OMIM:220111
HP:0000464	Abnormality of the neck	100151683	RNU4ATAC	ORPHA:2636
HP:0000464	Abnormality of the neck	23556	PIGN	ORPHA:2059
HP:0000464	Abnormality of the neck	7355	SLC35A2	ORPHA:356961
HP:0000464	Abnormality of the neck	526	ATP6V1B2	ORPHA:79500
HP:0000464	Abnormality of the neck	57465	TBC1D24	ORPHA:79500
HP:0000464	Abnormality of the neck	57465	TBC1D24	OMIM:220500
HP:0000464	Abnormality of the neck	29968	PSAT1	ORPHA:284417
HP:0000464	Abnormality of the neck	25978	CHMP2B	ORPHA:275864
HP:0000464	Abnormality of the neck	25978	CHMP2B	ORPHA:100070
HP:0000464	Abnormality of the neck	5663	PSEN1	ORPHA:275864
HP:0000464	Abnormality of the neck	5663	PSEN1	ORPHA:100070
HP:0000464	Abnormality of the neck	2896	GRN	ORPHA:275864
HP:0000464	Abnormality of the neck	2896	GRN	ORPHA:100070
HP:0000464	Abnormality of the neck	54664	TMEM106B	ORPHA:275864
HP:0000464	Abnormality of the neck	54664	TMEM106B	ORPHA:100070
HP:0000464	Abnormality of the neck	8878	SQSTM1	ORPHA:275864
HP:0000464	Abnormality of the neck	4137	MAPT	ORPHA:275864
HP:0000464	Abnormality of the neck	4137	MAPT	ORPHA:100070
HP:0000464	Abnormality of the neck	54209	TREM2	ORPHA:275864
HP:0000464	Abnormality of the neck	54209	TREM2	ORPHA:100070
HP:0000464	Abnormality of the neck	7415	VCP	ORPHA:275864
HP:0000464	Abnormality of the neck	7415	VCP	ORPHA:100070
HP:0000464	Abnormality of the neck	5167	ENPP1	ORPHA:758
HP:0000464	Abnormality of the neck	368	ABCC6	ORPHA:758
HP:0000464	Abnormality of the neck	55670	PEX26	ORPHA:912
HP:0000464	Abnormality of the neck	5824	PEX19	ORPHA:912
HP:0000464	Abnormality of the neck	5828	PEX2	ORPHA:912
HP:0000464	Abnormality of the neck	8504	PEX3	ORPHA:912
HP:0000464	Abnormality of the neck	8799	PEX11B	ORPHA:912
HP:0000464	Abnormality of the neck	9409	PEX16	ORPHA:912
HP:0000464	Abnormality of the neck	5190	PEX6	ORPHA:912
HP:0000464	Abnormality of the neck	5830	PEX5	ORPHA:912
HP:0000464	Abnormality of the neck	5193	PEX12	ORPHA:912
HP:0000464	Abnormality of the neck	5194	PEX13	ORPHA:912
HP:0000464	Abnormality of the neck	5195	PEX14	ORPHA:912
HP:0000464	Abnormality of the neck	5192	PEX10	ORPHA:912
HP:0000464	Abnormality of the neck	3476	IGBP1	OMIM:300472
HP:0000464	Abnormality of the neck	9895	TECPR2	ORPHA:320385
HP:0000464	Abnormality of the neck	9895	TECPR2	OMIM:615031
HP:0000464	Abnormality of the neck	145173	B3GLCT	OMIM:261540
HP:0000464	Abnormality of the neck	9968	MED12	ORPHA:93932
HP:0000464	Abnormality of the neck	7476	WNT7A	OMIM:276820
HP:0000464	Abnormality of the neck	6513	SLC2A1	ORPHA:168577
HP:0000464	Abnormality of the neck	219844	HYLS1	OMIM:236680
HP:0000464	Abnormality of the neck	6840	SVIL	OMIM:619040
HP:0000464	Abnormality of the neck	23116	TOGARAM1	OMIM:619185
HP:0000464	Abnormality of the neck	7750	ZMYM2	OMIM:619522
HP:0000464	Abnormality of the neck	5718	PSMD12	ORPHA:529962
HP:0000464	Abnormality of the neck	2186	BPTF	ORPHA:529962
HP:0000464	Abnormality of the neck	57647	DHX37	OMIM:618731
HP:0000464	Abnormality of the neck	84667	HES7	OMIM:613686
HP:0000464	Abnormality of the neck	1954	MEGF8	OMIM:614976
HP:0000464	Abnormality of the neck	5426	POLE	OMIM:618336
HP:0000464	Abnormality of the neck	7291	TWIST1	OMIM:617746
HP:0000464	Abnormality of the neck	10982	MAPRE2	OMIM:616734
HP:0000464	Abnormality of the neck	6231	RPS26	OMIM:613309
HP:0000464	Abnormality of the neck	26227	PHGDH	OMIM:256520
HP:0000464	Abnormality of the neck	9382	COG1	ORPHA:263508
HP:0000464	Abnormality of the neck	3930	LBR	OMIM:215140
HP:0000464	Abnormality of the neck	4927	NUP88	ORPHA:994
HP:0000464	Abnormality of the neck	7846	TUBA1A	ORPHA:994
HP:0000464	Abnormality of the neck	4654	MYOD1	ORPHA:994
HP:0000464	Abnormality of the neck	4654	MYOD1	OMIM:618975
HP:0000464	Abnormality of the neck	4593	MUSK	ORPHA:994
HP:0000464	Abnormality of the neck	4593	MUSK	OMIM:208150
HP:0000464	Abnormality of the neck	5913	RAPSN	ORPHA:994
HP:0000464	Abnormality of the neck	6572	SLC18A3	ORPHA:994
HP:0000464	Abnormality of the neck	285489	DOK7	ORPHA:994
HP:0000464	Abnormality of the neck	2294	FOXF1	OMIM:265380
HP:0000464	Abnormality of the neck	84231	TRAF7	OMIM:618164
HP:0000464	Abnormality of the neck	23483	TGDS	OMIM:616145
HP:0000464	Abnormality of the neck	94005	PIGS	OMIM:618143
HP:0000464	Abnormality of the neck	57539	WDR35	OMIM:613610
HP:0000464	Abnormality of the neck	57539	WDR35	OMIM:614091
HP:0000464	Abnormality of the neck	1836	SLC26A2	ORPHA:93298
HP:0000464	Abnormality of the neck	9321	TRIP11	ORPHA:93299
HP:0000464	Abnormality of the neck	55165	CEP55	OMIM:236500
HP:0000464	Abnormality of the neck	3190	HNRNPK	ORPHA:352665
HP:0000464	Abnormality of the neck	3190	HNRNPK	ORPHA:453504
HP:0000464	Abnormality of the neck	157570	ESCO2	OMIM:268300
HP:0000464	Abnormality of the neck	1280	COL2A1	OMIM:200610
HP:0000464	Abnormality of the neck	9578	CDC42BPB	OMIM:619841
HP:0000464	Abnormality of the neck	55640	FLVCR2	OMIM:225790
HP:0000464	Abnormality of the neck	2303	FOXC2	OMIM:153400
HP:0000464	Abnormality of the neck	84162	BLTP1	OMIM:617822
HP:0000464	Abnormality of the neck	112752	IFT43	OMIM:617866
HP:0000464	Abnormality of the neck	55784	MCTP2	ORPHA:1596
HP:0000464	Abnormality of the neck	1144	CHRND	OMIM:253290
HP:0000464	Abnormality of the neck	1134	CHRNA1	OMIM:253290
HP:0000464	Abnormality of the neck	51259	TMEM216	OMIM:603194
HP:0000464	Abnormality of the neck	10683	DLL3	OMIM:277300
HP:0000464	Abnormality of the neck	145873	MESP2	OMIM:277300
HP:0000464	Abnormality of the neck	3911	LAMA5	OMIM:620076
HP:0000464	Abnormality of the neck	29980	DONSON	OMIM:251230
HP:0000464	Abnormality of the neck	64132	XYLT2	OMIM:605822
HP:0000464	Abnormality of the neck	64132	XYLT2	ORPHA:85194
HP:0000464	Abnormality of the neck	3479	IGF1	ORPHA:73272
HP:0000464	Abnormality of the neck	324	APC	ORPHA:261584
HP:0000464	Abnormality of the neck	1947	EFNB1	ORPHA:1520
HP:0000464	Abnormality of the neck	1947	EFNB1	OMIM:304110
HP:0000464	Abnormality of the neck	161742	SPRED1	OMIM:611431
HP:0000464	Abnormality of the neck	673	BRAF	OMIM:115150
HP:0000464	Abnormality of the neck	673	BRAF	ORPHA:1340
HP:0000464	Abnormality of the neck	673	BRAF	OMIM:613707
HP:0000464	Abnormality of the neck	673	BRAF	OMIM:613706
HP:0000464	Abnormality of the neck	673	BRAF	OMIM:163950
HP:0000464	Abnormality of the neck	79650	USB1	OMIM:604173
HP:0000464	Abnormality of the neck	10847	SRCAP	OMIM:136140
HP:0000464	Abnormality of the neck	3020	H3-3A	OMIM:619720
HP:0000464	Abnormality of the neck	23030	KDM4B	OMIM:619320
HP:0000464	Abnormality of the neck	5184	PEPD	OMIM:170100
HP:0000464	Abnormality of the neck	4893	NRAS	OMIM:613224
HP:0000464	Abnormality of the neck	4893	NRAS	ORPHA:648
HP:0000464	Abnormality of the neck	65082	VPS33A	OMIM:617303
HP:0000464	Abnormality of the neck	80055	PGAP1	OMIM:615802
HP:0000464	Abnormality of the neck	25782	RAB3GAP2	OMIM:212720
HP:0000464	Abnormality of the neck	25782	RAB3GAP2	ORPHA:1387
HP:0000464	Abnormality of the neck	3764	KCNJ8	ORPHA:1517
HP:0000464	Abnormality of the neck	10060	ABCC9	ORPHA:1517
HP:0000464	Abnormality of the neck	4297	KMT2A	OMIM:605130
HP:0000464	Abnormality of the neck	4763	NF1	OMIM:601321
HP:0000464	Abnormality of the neck	55777	MBD5	OMIM:156200
HP:0000464	Abnormality of the neck	165	AEBP1	OMIM:618000
HP:0000464	Abnormality of the neck	10265	IRX5	OMIM:611174
HP:0000464	Abnormality of the neck	5604	MAP2K1	ORPHA:1340
HP:0000464	Abnormality of the neck	5604	MAP2K1	OMIM:163950
HP:0000464	Abnormality of the neck	5605	MAP2K2	ORPHA:1340
HP:0000464	Abnormality of the neck	3845	KRAS	ORPHA:1340
HP:0000464	Abnormality of the neck	3845	KRAS	ORPHA:648
HP:0000464	Abnormality of the neck	1000	CDH2	OMIM:618929
HP:0000464	Abnormality of the neck	7020	TFAP2A	OMIM:113620
HP:0000464	Abnormality of the neck	7319	UBE2A	OMIM:300860
HP:0000464	Abnormality of the neck	7319	UBE2A	ORPHA:163956
HP:0000464	Abnormality of the neck	10815	CPLX1	ORPHA:280
HP:0000464	Abnormality of the neck	10815	CPLX1	OMIM:194190
HP:0000464	Abnormality of the neck	54872	PIGG	ORPHA:280
HP:0000464	Abnormality of the neck	7469	NELFA	ORPHA:280
HP:0000464	Abnormality of the neck	1487	CTBP1	ORPHA:280
HP:0000464	Abnormality of the neck	1487	CTBP1	OMIM:194190
HP:0000464	Abnormality of the neck	3954	LETM1	ORPHA:280
HP:0000464	Abnormality of the neck	3954	LETM1	OMIM:194190
HP:0000464	Abnormality of the neck	7468	NSD2	ORPHA:280
HP:0000464	Abnormality of the neck	7468	NSD2	OMIM:194190
HP:0000464	Abnormality of the neck	8036	SHOC2	ORPHA:2701
HP:0000464	Abnormality of the neck	5500	PPP1CB	ORPHA:2701
HP:0000464	Abnormality of the neck	5500	PPP1CB	OMIM:617506
HP:0000464	Abnormality of the neck	4854	NOTCH3	ORPHA:2789
HP:0000464	Abnormality of the neck	51729	WBP11	OMIM:619227
HP:0000464	Abnormality of the neck	200734	SPRED2	OMIM:619745
HP:0000464	Abnormality of the neck	200734	SPRED2	ORPHA:648
HP:0000464	Abnormality of the neck	6602	SMARCD1	OMIM:618779
HP:0000464	Abnormality of the neck	53834	FGFRL1	OMIM:194190
HP:0000464	Abnormality of the neck	6234	RPS28	OMIM:606164
HP:0000464	Abnormality of the neck	60	ACTB	OMIM:243310
HP:0000464	Abnormality of the neck	60	ACTB	ORPHA:2995
HP:0000464	Abnormality of the neck	57167	SALL4	ORPHA:233
HP:0000464	Abnormality of the neck	9935	MAFB	ORPHA:233
HP:0000464	Abnormality of the neck	1123	CHN1	ORPHA:233
HP:0000464	Abnormality of the neck	23476	BRD4	ORPHA:199
HP:0000464	Abnormality of the neck	9126	SMC3	ORPHA:199
HP:0000464	Abnormality of the neck	8243	SMC1A	ORPHA:199
HP:0000464	Abnormality of the neck	25836	NIPBL	ORPHA:199
HP:0000464	Abnormality of the neck	25836	NIPBL	OMIM:122470
HP:0000464	Abnormality of the neck	55869	HDAC8	ORPHA:199
HP:0000464	Abnormality of the neck	5885	RAD21	ORPHA:199
HP:0000464	Abnormality of the neck	392255	GDF6	OMIM:118100
HP:0000464	Abnormality of the neck	392255	GDF6	ORPHA:2345
HP:0000464	Abnormality of the neck	1387	CREBBP	OMIM:180849
HP:0000464	Abnormality of the neck	2033	EP300	OMIM:180849
HP:0000464	Abnormality of the neck	29957	SLC25A24	OMIM:612289
HP:0000464	Abnormality of the neck	79005	SCNM1	OMIM:620107
HP:0000464	Abnormality of the neck	4784	NFIX	ORPHA:420179
HP:0000464	Abnormality of the neck	54499	TMCO1	OMIM:213980
HP:0000464	Abnormality of the neck	54499	TMCO1	ORPHA:1394
HP:0000464	Abnormality of the neck	5293	PIK3CD	ORPHA:221139
HP:0000464	Abnormality of the neck	90417	KNSTRN	ORPHA:221139
HP:0000464	Abnormality of the neck	79796	ALG9	ORPHA:79328
HP:0000464	Abnormality of the neck	8567	MADD	OMIM:619004
HP:0000464	Abnormality of the neck	374879	ZNF699	OMIM:619488
HP:0000464	Abnormality of the neck	5594	MAPK1	OMIM:619087
HP:0000464	Abnormality of the neck	28952	CCDC22	OMIM:300963
HP:0000464	Abnormality of the neck	4849	CNOT3	OMIM:618672
HP:0000464	Abnormality of the neck	226	ALDOA	OMIM:611881
HP:0000464	Abnormality of the neck	4222	MEOX1	OMIM:214300
HP:0000464	Abnormality of the neck	4222	MEOX1	ORPHA:2345
HP:0000464	Abnormality of the neck	80267	EDEM3	OMIM:619493
HP:0000464	Abnormality of the neck	9897	WASHC5	OMIM:220210
HP:0000464	Abnormality of the neck	10020	GNE	OMIM:269921
HP:0000464	Abnormality of the neck	5286	PIK3C2A	OMIM:618440
HP:0000464	Abnormality of the neck	738	VPS51	OMIM:618606
HP:0000464	Abnormality of the neck	22930	RAB3GAP1	ORPHA:1387
HP:0000464	Abnormality of the neck	23133	PHF8	ORPHA:85287
HP:0000464	Abnormality of the neck	23133	PHF8	OMIM:300263
HP:0000464	Abnormality of the neck	54187	NANS	OMIM:610442
HP:0000464	Abnormality of the neck	84700	MYO18B	OMIM:616549
HP:0000464	Abnormality of the neck	22800	RRAS2	ORPHA:648
HP:0000464	Abnormality of the neck	867	CBL	ORPHA:648
HP:0000464	Abnormality of the neck	867	CBL	OMIM:613563
HP:0000464	Abnormality of the neck	8216	LZTR1	ORPHA:648
HP:0000464	Abnormality of the neck	8216	LZTR1	OMIM:605275
HP:0000464	Abnormality of the neck	6016	RIT1	ORPHA:648
HP:0000464	Abnormality of the neck	6237	RRAS	ORPHA:648
HP:0000464	Abnormality of the neck	5894	RAF1	ORPHA:648
HP:0000464	Abnormality of the neck	22808	MRAS	ORPHA:648
HP:0000464	Abnormality of the neck	6654	SOS1	ORPHA:648
HP:0000464	Abnormality of the neck	6655	SOS2	ORPHA:648
HP:0000464	Abnormality of the neck	5781	PTPN11	ORPHA:648
HP:0000464	Abnormality of the neck	5781	PTPN11	OMIM:163950
HP:0000464	Abnormality of the neck	5922	RASA2	ORPHA:648
HP:0000464	Abnormality of the neck	1146	CHRNG	ORPHA:2990
HP:0000464	Abnormality of the neck	5468	PPARG	ORPHA:528
HP:0000464	Abnormality of the neck	10555	AGPAT2	ORPHA:528
HP:0000464	Abnormality of the neck	284119	CAVIN1	ORPHA:528
HP:0000464	Abnormality of the neck	26580	BSCL2	ORPHA:528
HP:0000464	Abnormality of the neck	2353	FOS	ORPHA:528
HP:0000464	Abnormality of the neck	857	CAV1	ORPHA:528
HP:0000464	Abnormality of the neck	6913	TBX15	ORPHA:93333
HP:0000464	Abnormality of the neck	79087	ALG12	ORPHA:79324
HP:0000464	Abnormality of the neck	71	ACTG1	ORPHA:2995
HP:0000464	Abnormality of the neck	9469	CHST3	OMIM:245600
HP:0000464	Abnormality of the neck	26229	B3GAT3	OMIM:245600
HP:0000464	Abnormality of the neck	6595	SMARCA2	OMIM:601358
HP:0000464	Abnormality of the neck	29123	ANKRD11	OMIM:148050
HP:0000464	Abnormality of the neck	8621	CDK13	OMIM:617360
HP:0000464	Abnormality of the neck	9181	ARHGEF2	OMIM:617523
HP:0000464	Abnormality of the neck	9573	GDF3	ORPHA:2345
HP:0000464	Abnormality of the neck	6736	SRY	ORPHA:1772
HP:0000464	Abnormality of the neck	27152	INTU	OMIM:617925
HP:0000464	Abnormality of the neck	10075	HUWE1	OMIM:309590
HP:0000464	Abnormality of the neck	57679	ALS2	OMIM:205100
HP:0000464	Abnormality of the neck	57679	ALS2	ORPHA:300605
HP:0000464	Abnormality of the neck	2521	FUS	ORPHA:300605
HP:0000464	Abnormality of the neck	80208	SPG11	ORPHA:300605
HP:0000464	Abnormality of the neck	10280	SIGMAR1	ORPHA:300605
HP:0000464	Abnormality of the neck	10558	SPTLC1	ORPHA:300605
HP:0000464	Abnormality of the neck	90	ACVR1	OMIM:135100
HP:0000464	Abnormality of the neck	1303	COL12A1	ORPHA:536516
HP:0000464	Abnormality of the neck	8831	SYNGAP1	OMIM:612621
HP:0000464	Abnormality of the neck	5528	PPP2R5D	OMIM:616355
HP:0000464	Abnormality of the neck	5528	PPP2R5D	ORPHA:457279
HP:0000464	Abnormality of the neck	1291	COL6A1	OMIM:158810
HP:0000464	Abnormality of the neck	1293	COL6A3	OMIM:158810
HP:0000464	Abnormality of the neck	23545	ATP6V0A2	ORPHA:357074
HP:0000464	Abnormality of the neck	523	ATP6V1A	ORPHA:357074
HP:0000464	Abnormality of the neck	529	ATP6V1E1	ORPHA:357074
HP:0000464	Abnormality of the neck	54496	PRMT7	OMIM:617157
HP:0000464	Abnormality of the neck	8260	NAA10	OMIM:300855
HP:0000464	Abnormality of the neck	10516	FBLN5	ORPHA:90348
HP:0000464	Abnormality of the neck	5832	ALDH18A1	ORPHA:90348
HP:0000464	Abnormality of the neck	55593	OTUD5	OMIM:301056
HP:0000464	Abnormality of the neck	9896	FIG4	OMIM:216340
HP:0000464	Abnormality of the neck	9896	FIG4	ORPHA:3472
HP:0000464	Abnormality of the neck	56945	MRPS22	OMIM:611719
HP:0000464	Abnormality of the neck	79848	CSPP1	ORPHA:397715
HP:0000464	Abnormality of the neck	9786	KIAA0586	ORPHA:397715
HP:0000464	Abnormality of the neck	10682	EBP	OMIM:300960
HP:0000464	Abnormality of the neck	55697	VAC14	ORPHA:3472
HP:0000464	Abnormality of the neck	4716	NDUFB10	OMIM:619003
HP:0000464	Abnormality of the neck	285590	SH3PXD2B	OMIM:249420
HP:0000464	Abnormality of the neck	22884	WDR37	OMIM:618652
HP:0000464	Abnormality of the neck	2623	GATA1	OMIM:190685
HP:0000464	Abnormality of the neck	388015	RTL1	ORPHA:254528
HP:0000464	Abnormality of the neck	388015	RTL1	ORPHA:96334
HP:0000464	Abnormality of the neck	8788	DLK1	ORPHA:254528
HP:0000464	Abnormality of the neck	8788	DLK1	ORPHA:96334
HP:0000464	Abnormality of the neck	55384	MEG3	ORPHA:254528
HP:0000464	Abnormality of the neck	55384	MEG3	ORPHA:96334
HP:0000464	Abnormality of the neck	2263	FGFR2	OMIM:123790
HP:0000464	Abnormality of the neck	51021	MRPS16	OMIM:610498
HP:0000464	Abnormality of the neck	3265	HRAS	OMIM:218040
HP:0000464	Abnormality of the neck	2683	B4GALT1	ORPHA:79332
HP:0000464	Abnormality of the neck	5189	PEX1	OMIM:214100
HP:0000464	Abnormality of the neck	57190	SELENON	OMIM:602771
HP:0000464	Abnormality of the neck	57190	SELENON	ORPHA:324604
HP:0000464	Abnormality of the neck	4625	MYH7	ORPHA:324604
HP:0000464	Abnormality of the neck	4625	MYH7	ORPHA:437572
HP:0000464	Abnormality of the neck	7273	TTN	ORPHA:324604
HP:0000464	Abnormality of the neck	2273	FHL1	OMIM:300696
HP:0000464	Abnormality of the neck	4000	LMNA	OMIM:181350
HP:0000464	Abnormality of the neck	11160	ERLIN2	ORPHA:209951
HP:0000464	Abnormality of the neck	4621	MYH3	OMIM:193700
HP:0000464	Abnormality of the neck	1292	COL6A2	OMIM:255600
HP:0000464	Abnormality of the neck	10992	SF3B2	OMIM:164210
HP:0000464	Abnormality of the neck	84172	POLR1B	ORPHA:861
HP:0000464	Abnormality of the neck	9533	POLR1C	ORPHA:861
HP:0000464	Abnormality of the neck	51082	POLR1D	ORPHA:861
HP:0000464	Abnormality of the neck	6949	TCOF1	ORPHA:861
HP:0000464	Abnormality of the neck	25942	SIN3A	OMIM:613406
HP:0000464	Abnormality of the neck	6495	SIX1	ORPHA:52429
HP:0000464	Abnormality of the neck	6495	SIX1	OMIM:113650
HP:0000464	Abnormality of the neck	613	BCR	ORPHA:261330
HP:0000464	Abnormality of the neck	1399	CRKL	ORPHA:261330
HP:0000464	Abnormality of the neck	6134	RPL10	ORPHA:435938
HP:0000464	Abnormality of the neck	8085	KMT2D	OMIM:620186
HP:0000464	Abnormality of the neck	147912	SIX5	ORPHA:107
HP:0000464	Abnormality of the neck	699	BUB1	OMIM:620183
HP:0000464	Abnormality of the neck	699	BUB1	ORPHA:1052
HP:0000464	Abnormality of the neck	1725	DHPS	OMIM:618480
HP:0000464	Abnormality of the neck	104	ADARB1	OMIM:618862
HP:0000464	Abnormality of the neck	10274	STAG1	OMIM:617635
HP:0000464	Abnormality of the neck	415	ARSL	ORPHA:79345
HP:0000464	Abnormality of the neck	83475	DOHH	OMIM:620066
HP:0000464	Abnormality of the neck	9184	BUB3	ORPHA:1052
HP:0000464	Abnormality of the neck	9702	CEP57	ORPHA:1052
HP:0000464	Abnormality of the neck	9319	TRIP13	ORPHA:1052
HP:0000464	Abnormality of the neck	2050	EPHB4	OMIM:617300
HP:0000464	Abnormality of the neck	1822	ATN1	OMIM:618494
HP:0000464	Abnormality of the neck	4953	ODC1	ORPHA:544488
HP:0000464	Abnormality of the neck	25792	CIZ1	ORPHA:420492
HP:0000464	Abnormality of the neck	4722	NDUFS3	OMIM:618230
HP:0000464	Abnormality of the neck	22943	DKK1	ORPHA:268882
HP:0000464	Abnormality of the neck	54820	NDE1	ORPHA:2177
HP:0000464	Abnormality of the neck	3661	IRF3	OMIM:616532
HP:0000464	Abnormality of the neck	6323	SCN1A	ORPHA:569
HP:0000464	Abnormality of the neck	477	ATP1A2	ORPHA:569
HP:0000464	Abnormality of the neck	7187	TRAF3	ORPHA:1930
HP:0000464	Abnormality of the neck	81622	UNC93B1	ORPHA:1930
HP:0000464	Abnormality of the neck	148022	TICAM1	ORPHA:1930
HP:0000464	Abnormality of the neck	7098	TLR3	ORPHA:1930
HP:0000464	Abnormality of the neck	29110	TBK1	ORPHA:1930
HP:0000464	Abnormality of the neck	2304	FOXE1	ORPHA:319487
HP:0000464	Abnormality of the neck	3026	HABP2	ORPHA:319487
HP:0000464	Abnormality of the neck	9562	MINPP1	ORPHA:319487
HP:0000465	Webbed neck	64132	XYLT2	OMIM:605822
HP:0000465	Webbed neck	64132	XYLT2	ORPHA:85194
HP:0000465	Webbed neck	5290	PIK3CA	OMIM:612918
HP:0000465	Webbed neck	8036	SHOC2	OMIM:607721
HP:0000465	Webbed neck	8036	SHOC2	ORPHA:2701
HP:0000465	Webbed neck	6909	TBX2	OMIM:618223
HP:0000465	Webbed neck	8216	LZTR1	OMIM:616564
HP:0000465	Webbed neck	8216	LZTR1	ORPHA:648
HP:0000465	Webbed neck	9780	PIEZO1	OMIM:616843
HP:0000465	Webbed neck	6016	RIT1	OMIM:615355
HP:0000465	Webbed neck	6016	RIT1	ORPHA:648
HP:0000465	Webbed neck	2733	GLE1	ORPHA:1486
HP:0000465	Webbed neck	6885	MAP3K7	OMIM:617137
HP:0000465	Webbed neck	5894	RAF1	OMIM:611554
HP:0000465	Webbed neck	5894	RAF1	OMIM:611553
HP:0000465	Webbed neck	5894	RAF1	ORPHA:500
HP:0000465	Webbed neck	5894	RAF1	ORPHA:648
HP:0000465	Webbed neck	673	BRAF	OMIM:115150
HP:0000465	Webbed neck	673	BRAF	ORPHA:1340
HP:0000465	Webbed neck	673	BRAF	ORPHA:500
HP:0000465	Webbed neck	673	BRAF	OMIM:613707
HP:0000465	Webbed neck	673	BRAF	OMIM:613706
HP:0000465	Webbed neck	673	BRAF	OMIM:163950
HP:0000465	Webbed neck	29123	ANKRD11	ORPHA:2332
HP:0000465	Webbed neck	29123	ANKRD11	OMIM:148050
HP:0000465	Webbed neck	4621	MYH3	OMIM:618469
HP:0000465	Webbed neck	4621	MYH3	OMIM:178110
HP:0000465	Webbed neck	4621	MYH3	ORPHA:1147
HP:0000465	Webbed neck	4621	MYH3	ORPHA:2990
HP:0000465	Webbed neck	145173	B3GLCT	ORPHA:709
HP:0000465	Webbed neck	145173	B3GLCT	OMIM:261540
HP:0000465	Webbed neck	8854	ALDH1A2	OMIM:620025
HP:0000465	Webbed neck	6229	RPS24	OMIM:610629
HP:0000465	Webbed neck	6229	RPS24	ORPHA:124
HP:0000465	Webbed neck	84162	BLTP1	OMIM:617822
HP:0000465	Webbed neck	4010	LMX1B	ORPHA:495818
HP:0000465	Webbed neck	6812	STXBP1	ORPHA:495818
HP:0000465	Webbed neck	2624	GATA2	OMIM:614038
HP:0000465	Webbed neck	23291	FBXW11	OMIM:618914
HP:0000465	Webbed neck	4893	NRAS	OMIM:613224
HP:0000465	Webbed neck	4893	NRAS	ORPHA:648
HP:0000465	Webbed neck	998	CDC42	OMIM:616737
HP:0000465	Webbed neck	998	CDC42	ORPHA:487796
HP:0000465	Webbed neck	4763	NF1	OMIM:601321
HP:0000465	Webbed neck	4763	NF1	ORPHA:97685
HP:0000465	Webbed neck	4763	NF1	ORPHA:638
HP:0000465	Webbed neck	10559	SLC35A1	OMIM:603585
HP:0000465	Webbed neck	165	AEBP1	OMIM:618000
HP:0000465	Webbed neck	165	AEBP1	ORPHA:536532
HP:0000465	Webbed neck	5925	RB1	ORPHA:1587
HP:0000465	Webbed neck	5604	MAP2K1	ORPHA:1340
HP:0000465	Webbed neck	5604	MAP2K1	OMIM:615279
HP:0000465	Webbed neck	5604	MAP2K1	OMIM:163950
HP:0000465	Webbed neck	5605	MAP2K2	ORPHA:1340
HP:0000465	Webbed neck	5605	MAP2K2	ORPHA:638
HP:0000465	Webbed neck	3845	KRAS	ORPHA:1340
HP:0000465	Webbed neck	3845	KRAS	OMIM:609942
HP:0000465	Webbed neck	3845	KRAS	ORPHA:648
HP:0000465	Webbed neck	7080	NKX2-1	ORPHA:209905
HP:0000465	Webbed neck	7136	TNNI2	OMIM:601680
HP:0000465	Webbed neck	7136	TNNI2	ORPHA:1147
HP:0000465	Webbed neck	8260	NAA10	ORPHA:568
HP:0000465	Webbed neck	8260	NAA10	OMIM:309800
HP:0000465	Webbed neck	54880	BCOR	ORPHA:568
HP:0000465	Webbed neck	54880	BCOR	OMIM:309800
HP:0000465	Webbed neck	4297	KMT2A	ORPHA:319182
HP:0000465	Webbed neck	5500	PPP1CB	ORPHA:2701
HP:0000465	Webbed neck	5500	PPP1CB	OMIM:617506
HP:0000465	Webbed neck	1954	MEGF8	OMIM:614976
HP:0000465	Webbed neck	51729	WBP11	OMIM:619227
HP:0000465	Webbed neck	55636	CHD7	OMIM:214800
HP:0000465	Webbed neck	200734	SPRED2	OMIM:619745
HP:0000465	Webbed neck	200734	SPRED2	ORPHA:648
HP:0000465	Webbed neck	53834	FGFRL1	OMIM:194190
HP:0000465	Webbed neck	1487	CTBP1	OMIM:194190
HP:0000465	Webbed neck	3954	LETM1	OMIM:194190
HP:0000465	Webbed neck	7468	NSD2	OMIM:194190
HP:0000465	Webbed neck	10815	CPLX1	OMIM:194190
HP:0000465	Webbed neck	3265	HRAS	OMIM:218040
HP:0000465	Webbed neck	2313	FLI1	ORPHA:2308
HP:0000465	Webbed neck	57167	SALL4	ORPHA:233
HP:0000465	Webbed neck	9935	MAFB	ORPHA:233
HP:0000465	Webbed neck	1123	CHN1	ORPHA:233
HP:0000465	Webbed neck	6611	SMS	ORPHA:3063
HP:0000465	Webbed neck	6611	SMS	OMIM:309583
HP:0000465	Webbed neck	1947	EFNB1	OMIM:304110
HP:0000465	Webbed neck	6628	SNRPB	OMIM:117650
HP:0000465	Webbed neck	6628	SNRPB	ORPHA:1393
HP:0000465	Webbed neck	392255	GDF6	OMIM:118100
HP:0000465	Webbed neck	392255	GDF6	ORPHA:2345
HP:0000465	Webbed neck	71	ACTG1	OMIM:614583
HP:0000465	Webbed neck	71	ACTG1	ORPHA:2995
HP:0000465	Webbed neck	26005	C2CD3	ORPHA:434179
HP:0000465	Webbed neck	5781	PTPN11	ORPHA:500
HP:0000465	Webbed neck	5781	PTPN11	ORPHA:648
HP:0000465	Webbed neck	5781	PTPN11	OMIM:151100
HP:0000465	Webbed neck	5781	PTPN11	OMIM:163950
HP:0000465	Webbed neck	55617	TASP1	OMIM:618950
HP:0000465	Webbed neck	1857	DVL3	OMIM:616894
HP:0000465	Webbed neck	5594	MAPK1	OMIM:619087
HP:0000465	Webbed neck	202018	TAPT1	OMIM:616897
HP:0000465	Webbed neck	9772	TMEM94	OMIM:618316
HP:0000465	Webbed neck	6204	RPS10	OMIM:613308
HP:0000465	Webbed neck	6204	RPS10	ORPHA:124
HP:0000465	Webbed neck	3911	LAMA5	OMIM:620076
HP:0000465	Webbed neck	7169	TPM2	OMIM:108120
HP:0000465	Webbed neck	7169	TPM2	ORPHA:1147
HP:0000465	Webbed neck	139285	AMER1	OMIM:300373
HP:0000465	Webbed neck	2239	GPC4	ORPHA:373
HP:0000465	Webbed neck	2719	GPC3	ORPHA:373
HP:0000465	Webbed neck	55120	FANCL	OMIM:614083
HP:0000465	Webbed neck	7140	TNNT3	ORPHA:1147
HP:0000465	Webbed neck	259232	NALCN	ORPHA:1147
HP:0000465	Webbed neck	9487	PIGL	OMIM:280000
HP:0000465	Webbed neck	7994	KAT6A	OMIM:616268
HP:0000465	Webbed neck	4000	LMNA	ORPHA:1662
HP:0000465	Webbed neck	10269	ZMPSTE24	ORPHA:1662
HP:0000465	Webbed neck	54916	TMEM260	OMIM:617478
HP:0000465	Webbed neck	84700	MYO18B	OMIM:616549
HP:0000465	Webbed neck	22800	RRAS2	ORPHA:648
HP:0000465	Webbed neck	867	CBL	ORPHA:648
HP:0000465	Webbed neck	867	CBL	OMIM:613563
HP:0000465	Webbed neck	6237	RRAS	ORPHA:648
HP:0000465	Webbed neck	22808	MRAS	ORPHA:648
HP:0000465	Webbed neck	6654	SOS1	ORPHA:648
HP:0000465	Webbed neck	6654	SOS1	OMIM:610733
HP:0000465	Webbed neck	6655	SOS2	ORPHA:648
HP:0000465	Webbed neck	6655	SOS2	OMIM:616559
HP:0000465	Webbed neck	5922	RASA2	ORPHA:648
HP:0000465	Webbed neck	1146	CHRNG	ORPHA:2990
HP:0000465	Webbed neck	2303	FOXC2	ORPHA:33001
HP:0000465	Webbed neck	2303	FOXC2	OMIM:153400
HP:0000465	Webbed neck	60	ACTB	ORPHA:2995
HP:0000465	Webbed neck	6223	RPS19	OMIM:105650
HP:0000465	Webbed neck	6223	RPS19	ORPHA:124
HP:0000465	Webbed neck	9469	CHST3	OMIM:245600
HP:0000465	Webbed neck	26229	B3GAT3	OMIM:245600
HP:0000465	Webbed neck	6135	RPL11	ORPHA:124
HP:0000465	Webbed neck	6138	RPL15	ORPHA:124
HP:0000465	Webbed neck	6125	RPL5	ORPHA:124
HP:0000465	Webbed neck	6224	RPS20	ORPHA:124
HP:0000465	Webbed neck	6165	RPL35A	ORPHA:124
HP:0000465	Webbed neck	2623	GATA1	ORPHA:124
HP:0000465	Webbed neck	6232	RPS27	ORPHA:124
HP:0000465	Webbed neck	6231	RPS26	ORPHA:124
HP:0000465	Webbed neck	11224	RPL35	ORPHA:124
HP:0000465	Webbed neck	6160	RPL31	ORPHA:124
HP:0000465	Webbed neck	6218	RPS17	ORPHA:124
HP:0000465	Webbed neck	6201	RPS7	ORPHA:124
HP:0000465	Webbed neck	6155	RPL27	ORPHA:124
HP:0000465	Webbed neck	6154	RPL26	ORPHA:124
HP:0000465	Webbed neck	6210	RPS15A	ORPHA:124
HP:0000465	Webbed neck	90121	TSR2	ORPHA:124
HP:0000465	Webbed neck	6141	RPL18	ORPHA:124
HP:0000465	Webbed neck	6235	RPS29	ORPHA:124
HP:0000465	Webbed neck	6234	RPS28	ORPHA:124
HP:0000465	Webbed neck	51816	ADA2	ORPHA:124
HP:0000465	Webbed neck	6261	RYR1	OMIM:619542
HP:0000465	Webbed neck	54903	MKS1	OMIM:249000
HP:0000465	Webbed neck	91252	SLC39A13	OMIM:612350
HP:0000465	Webbed neck	9573	GDF3	ORPHA:2345
HP:0000465	Webbed neck	4222	MEOX1	ORPHA:2345
HP:0000465	Webbed neck	6736	SRY	ORPHA:1772
HP:0000465	Webbed neck	3480	IGF1R	OMIM:270450
HP:0000465	Webbed neck	168667	BMPER	OMIM:608022
HP:0000466	Limited neck range of motion	9241	NOG	OMIM:184460
HP:0000466	Limited neck range of motion	392255	GDF6	OMIM:118100
HP:0000466	Limited neck range of motion	4222	MEOX1	OMIM:214300
HP:0000466	Limited neck range of motion	6335	SCN9A	ORPHA:33069
HP:0000466	Limited neck range of motion	6326	SCN2A	ORPHA:33069
HP:0000466	Limited neck range of motion	2554	GABRA1	ORPHA:33069
HP:0000466	Limited neck range of motion	6323	SCN1A	ORPHA:33069
HP:0000466	Limited neck range of motion	6324	SCN1B	ORPHA:33069
HP:0000466	Limited neck range of motion	57526	PCDH19	ORPHA:33069
HP:0000466	Limited neck range of motion	2566	GABRG2	ORPHA:33069
HP:0000466	Limited neck range of motion	29895	MYL11	OMIM:619110
HP:0000467	Neck muscle weakness	58	ACTA1	ORPHA:97240
HP:0000467	Neck muscle weakness	58	ACTA1	ORPHA:97244
HP:0000467	Neck muscle weakness	58	ACTA1	ORPHA:171439
HP:0000467	Neck muscle weakness	6584	SLC22A5	ORPHA:158
HP:0000467	Neck muscle weakness	57190	SELENON	ORPHA:97244
HP:0000467	Neck muscle weakness	1410	CRYAB	OMIM:608810
HP:0000467	Neck muscle weakness	1410	CRYAB	ORPHA:399058
HP:0000467	Neck muscle weakness	55791	LRIF1	OMIM:619477
HP:0000467	Neck muscle weakness	1144	CHRND	OMIM:616322
HP:0000467	Neck muscle weakness	100996717	NOTCH2NLC	OMIM:619473
HP:0000467	Neck muscle weakness	4593	MUSK	OMIM:616325
HP:0000467	Neck muscle weakness	79188	TMEM43	OMIM:614302
HP:0000467	Neck muscle weakness	1145	CHRNE	OMIM:616324
HP:0000467	Neck muscle weakness	79912	PYROXD1	OMIM:617258
HP:0000467	Neck muscle weakness	2673	GFPT1	OMIM:610542
HP:0000467	Neck muscle weakness	1134	CHRNA1	OMIM:608930
HP:0000467	Neck muscle weakness	4534	MTM1	OMIM:310400
HP:0000467	Neck muscle weakness	79581	SLC52A2	OMIM:614707
HP:0000467	Neck muscle weakness	4625	MYH7	ORPHA:59135
HP:0000467	Neck muscle weakness	4625	MYH7	OMIM:160500
HP:0000467	Neck muscle weakness	111	ADCY5	OMIM:606703
HP:0000467	Neck muscle weakness	9325	TRIP4	OMIM:617066
HP:0000467	Neck muscle weakness	9325	TRIP4	ORPHA:486815
HP:0000467	Neck muscle weakness	60482	SLC5A7	OMIM:617143
HP:0000467	Neck muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0000467	Neck muscle weakness	3714	JAG2	OMIM:619566
HP:0000467	Neck muscle weakness	6576	SLC25A1	OMIM:618197
HP:0000467	Neck muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0000467	Neck muscle weakness	1674	DES	OMIM:601419
HP:0000467	Neck muscle weakness	79152	FA2H	ORPHA:171629
HP:0000467	Neck muscle weakness	84876	ORAI1	OMIM:615883
HP:0000467	Neck muscle weakness	22880	MORC2	ORPHA:466768
HP:0000467	Neck muscle weakness	4649	MYO9A	ORPHA:98914
HP:0000467	Neck muscle weakness	1305	COL13A1	ORPHA:98914
HP:0000467	Neck muscle weakness	1103	CHAT	ORPHA:98914
HP:0000467	Neck muscle weakness	6843	VAMP1	ORPHA:98914
HP:0000467	Neck muscle weakness	375790	AGRN	ORPHA:98914
HP:0000467	Neck muscle weakness	127833	SYT2	ORPHA:98914
HP:0000467	Neck muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0000467	Neck muscle weakness	6616	SNAP25	ORPHA:98914
HP:0000467	Neck muscle weakness	8292	COLQ	ORPHA:98915
HP:0000467	Neck muscle weakness	8292	COLQ	OMIM:603034
HP:0000467	Neck muscle weakness	3913	LAMB2	ORPHA:98915
HP:0000467	Neck muscle weakness	859	CAV3	ORPHA:488650
HP:0000467	Neck muscle weakness	23175	LPIN1	ORPHA:99845
HP:0000467	Neck muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0000467	Neck muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0000467	Neck muscle weakness	8106	PABPN1	OMIM:164300
HP:0000467	Neck muscle weakness	1303	COL12A1	ORPHA:610
HP:0000467	Neck muscle weakness	1291	COL6A1	ORPHA:610
HP:0000467	Neck muscle weakness	1292	COL6A2	ORPHA:610
HP:0000467	Neck muscle weakness	1293	COL6A3	ORPHA:610
HP:0000467	Neck muscle weakness	57104	PNPLA2	OMIM:610717
HP:0000467	Neck muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0000467	Neck muscle weakness	343641	TGM6	OMIM:613908
HP:0000467	Neck muscle weakness	343641	TGM6	ORPHA:276193
HP:0000467	Neck muscle weakness	7170	TPM3	OMIM:609284
HP:0000467	Neck muscle weakness	7170	TPM3	ORPHA:171439
HP:0000467	Neck muscle weakness	7169	TPM2	OMIM:609285
HP:0000467	Neck muscle weakness	7169	TPM2	ORPHA:171439
HP:0000467	Neck muscle weakness	84665	MYPN	ORPHA:171439
HP:0000467	Neck muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0000467	Neck muscle weakness	4703	NEB	ORPHA:171439
HP:0000467	Neck muscle weakness	10324	KLHL41	ORPHA:171439
HP:0000467	Neck muscle weakness	5631	PRPS1	ORPHA:1187
HP:0000467	Neck muscle weakness	1073	CFL2	OMIM:610687
HP:0000467	Neck muscle weakness	2581	GALC	ORPHA:206436
HP:0000467	Neck muscle weakness	5660	PSAP	ORPHA:206436
HP:0000467	Neck muscle weakness	4620	MYH2	OMIM:605637
HP:0000467	Neck muscle weakness	29925	GMPPB	ORPHA:363623
HP:0000467	Neck muscle weakness	8291	DYSF	ORPHA:178400
HP:0000467	Neck muscle weakness	4632	MYL1	OMIM:618414
HP:0000467	Neck muscle weakness	4000	LMNA	OMIM:613205
HP:0000467	Neck muscle weakness	23345	SYNE1	OMIM:612998
HP:0000467	Neck muscle weakness	113278	SLC52A3	OMIM:211530
HP:0000467	Neck muscle weakness	6445	SGCG	ORPHA:353
HP:0000467	Neck muscle weakness	7273	TTN	OMIM:603689
HP:0000467	Neck muscle weakness	7273	TTN	ORPHA:178464
HP:0000467	Neck muscle weakness	22954	TRIM32	OMIM:254110
HP:0000467	Neck muscle weakness	50484	RRM2B	ORPHA:329336
HP:0000467	Neck muscle weakness	246243	RNASEH1	ORPHA:329336
HP:0000467	Neck muscle weakness	400916	CHCHD10	OMIM:616209
HP:0000467	Neck muscle weakness	400916	CHCHD10	ORPHA:457050
HP:0000467	Neck muscle weakness	7555	CNBP	OMIM:602668
HP:0000467	Neck muscle weakness	5428	POLG	OMIM:157640
HP:0000467	Neck muscle weakness	2521	FUS	ORPHA:300605
HP:0000467	Neck muscle weakness	80208	SPG11	ORPHA:300605
HP:0000467	Neck muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0000467	Neck muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0000467	Neck muscle weakness	57679	ALS2	ORPHA:300605
HP:0000467	Neck muscle weakness	56203	LMOD3	ORPHA:171436
HP:0000467	Neck muscle weakness	2992	GYG1	ORPHA:263297
HP:0000467	Neck muscle weakness	7156	TOP3A	OMIM:618098
HP:0000467	Neck muscle weakness	3908	LAMA2	OMIM:618138
HP:0000467	Neck muscle weakness	6329	SCN4A	ORPHA:98913
HP:0000467	Neck muscle weakness	4038	LRP4	ORPHA:98913
HP:0000467	Neck muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0000467	Neck muscle weakness	5913	RAPSN	ORPHA:98913
HP:0000467	Neck muscle weakness	221264	AK9	ORPHA:98913
HP:0000467	Neck muscle weakness	285489	DOK7	ORPHA:98913
HP:0000468	Increased adipose tissue around the neck	3991	LIPE	ORPHA:435660
HP:0000468	Increased adipose tissue around the neck	4000	LMNA	ORPHA:280365
HP:0000468	Increased adipose tissue around the neck	4000	LMNA	OMIM:248370
HP:0000468	Increased adipose tissue around the neck	4000	LMNA	OMIM:151660
HP:0007627	Mandibular condyle aplasia	5332	PLCB4	OMIM:614669
HP:0007627	Mandibular condyle aplasia	5332	PLCB4	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	1906	EDN1	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	2773	GNAI3	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	2773	GNAI3	OMIM:602483
HP:0007628	Mandibular condyle hypoplasia	5332	PLCB4	OMIM:614669
HP:0007628	Mandibular condyle hypoplasia	5332	PLCB4	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	1906	EDN1	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	2773	GNAI3	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	2773	GNAI3	OMIM:602483
HP:0010689	Mirror image polydactyly	64327	LMBR1	ORPHA:2378
HP:0010689	Mirror image polydactyly	5307	PITX1	OMIM:119800
HP:0010672	Abnormality of the third metatarsal bone	3094	HINT1	ORPHA:324442
HP:0000546	Retinal degeneration	10594	PRPF8	OMIM:600059
HP:0000546	Retinal degeneration	1499	CTNNB1	OMIM:617572
HP:0000546	Retinal degeneration	4547	MTTP	OMIM:200100
HP:0000546	Retinal degeneration	10681	GNB5	OMIM:617173
HP:0000546	Retinal degeneration	10681	GNB5	ORPHA:542306
HP:0000546	Retinal degeneration	3028	HSD17B10	OMIM:300438
HP:0000546	Retinal degeneration	3028	HSD17B10	ORPHA:391428
HP:0000546	Retinal degeneration	22901	ARSG	OMIM:618144
HP:0000546	Retinal degeneration	1161	ERCC8	ORPHA:90324
HP:0000546	Retinal degeneration	2074	ERCC6	ORPHA:90324
HP:0000546	Retinal degeneration	26160	IFT172	OMIM:615630
HP:0000546	Retinal degeneration	10806	SDCCAG8	OMIM:615993
HP:0000546	Retinal degeneration	10806	SDCCAG8	OMIM:613615
HP:0000546	Retinal degeneration	54585	LZTFL1	OMIM:615994
HP:0000546	Retinal degeneration	338	APOB	OMIM:615558
HP:0000546	Retinal degeneration	55624	POMGNT1	OMIM:253280
HP:0000546	Retinal degeneration	755	CFAP410	OMIM:602271
HP:0000546	Retinal degeneration	6247	RS1	OMIM:312700
HP:0000546	Retinal degeneration	10283	CWC27	OMIM:250410
HP:0000546	Retinal degeneration	10283	CWC27	ORPHA:166035
HP:0000546	Retinal degeneration	54982	CLN6	OMIM:601780
HP:0000546	Retinal degeneration	80025	PANK2	OMIM:234200
HP:0000546	Retinal degeneration	285362	SUMF1	OMIM:272200
HP:0000546	Retinal degeneration	9227	LRAT	ORPHA:364055
HP:0000546	Retinal degeneration	55812	SPATA7	ORPHA:364055
HP:0000546	Retinal degeneration	6121	RPE65	ORPHA:364055
HP:0000546	Retinal degeneration	167691	LCA5	ORPHA:364055
HP:0000546	Retinal degeneration	5191	PEX7	OMIM:266500
HP:0000546	Retinal degeneration	5264	PHYH	OMIM:266500
HP:0000546	Retinal degeneration	51741	WWOX	OMIM:616211
HP:0000546	Retinal degeneration	51741	WWOX	OMIM:614322
HP:0000546	Retinal degeneration	51741	WWOX	ORPHA:442835
HP:0000546	Retinal degeneration	4976	OPA1	OMIM:616896
HP:0000546	Retinal degeneration	4081	MAB21L1	OMIM:618479
HP:0000546	Retinal degeneration	85015	USP45	OMIM:618513
HP:0000546	Retinal degeneration	84197	POMK	OMIM:615249
HP:0000546	Retinal degeneration	1200	TPP1	OMIM:204500
HP:0000546	Retinal degeneration	7486	WRN	OMIM:277700
HP:0000546	Retinal degeneration	284086	NEK8	OMIM:613824
HP:0000546	Retinal degeneration	10908	PNPLA6	OMIM:275400
HP:0000546	Retinal degeneration	4125	MAN2B1	OMIM:248500
HP:0000546	Retinal degeneration	91147	TMEM67	OMIM:613550
HP:0000546	Retinal degeneration	91147	TMEM67	OMIM:610688
HP:0000546	Retinal degeneration	10560	SLC19A2	OMIM:249270
HP:0000546	Retinal degeneration	1203	CLN5	OMIM:256731
HP:0000546	Retinal degeneration	23090	ZNF423	OMIM:614844
HP:0000546	Retinal degeneration	25974	MMACHC	ORPHA:79282
HP:0000546	Retinal degeneration	22897	CEP164	OMIM:614845
HP:0000546	Retinal degeneration	10383	TUBB4B	OMIM:617879
HP:0000546	Retinal degeneration	84100	ARL6	OMIM:209900
HP:0000546	Retinal degeneration	79140	CCDC28B	OMIM:209900
HP:0000546	Retinal degeneration	582	BBS1	OMIM:209900
HP:0000546	Retinal degeneration	23761	PISD	OMIM:618889
HP:0000546	Retinal degeneration	29929	ALG6	ORPHA:79320
HP:0000546	Retinal degeneration	1737	DLAT	ORPHA:79244
HP:0000546	Retinal degeneration	57192	MCOLN1	OMIM:252650
HP:0000546	Retinal degeneration	285440	CYP4V2	OMIM:210370
HP:0000546	Retinal degeneration	4982	TNFRSF11B	OMIM:239000
HP:0000546	Retinal degeneration	23155	CLCC1	OMIM:609913
HP:0000546	Retinal degeneration	583	BBS2	OMIM:615981
HP:0000546	Retinal degeneration	585	BBS4	OMIM:615982
HP:0000546	Retinal degeneration	27241	BBS9	OMIM:615986
HP:0000546	Retinal degeneration	7287	TULP1	OMIM:613843
HP:0000546	Retinal degeneration	3737	KCNA2	ORPHA:442835
HP:0000546	Retinal degeneration	1759	DNM1	ORPHA:442835
HP:0000546	Retinal degeneration	8120	AP3B2	ORPHA:442835
HP:0000546	Retinal degeneration	523	ATP6V1A	ORPHA:442835
HP:0000546	Retinal degeneration	10991	SLC38A3	ORPHA:442835
HP:0000546	Retinal degeneration	51343	FZR1	ORPHA:442835
HP:0000546	Retinal degeneration	22906	TRAK1	ORPHA:442835
HP:0000546	Retinal degeneration	2566	GABRG2	ORPHA:442835
HP:0000546	Retinal degeneration	1917	EEF1A2	ORPHA:442835
HP:0000546	Retinal degeneration	2561	GABRB2	ORPHA:442835
HP:0000546	Retinal degeneration	8831	SYNGAP1	ORPHA:442835
HP:0000546	Retinal degeneration	7532	YWHAG	ORPHA:442835
HP:0000546	Retinal degeneration	79876	UBA5	ORPHA:442835
HP:0000546	Retinal degeneration	6328	SCN3A	ORPHA:442835
HP:0000546	Retinal degeneration	2558	GABRA5	ORPHA:442835
HP:0000546	Retinal degeneration	781	CACNA2D1	ORPHA:442835
HP:0000546	Retinal degeneration	2906	GRIN2D	ORPHA:442835
HP:0000546	Retinal degeneration	116150	NUS1	ORPHA:442835
HP:0000546	Retinal degeneration	10659	CELF2	ORPHA:442835
HP:0000546	Retinal degeneration	774	CACNA1B	ORPHA:442835
HP:0000546	Retinal degeneration	1213	CLTC	ORPHA:442835
HP:0000546	Retinal degeneration	23334	SZT2	ORPHA:442835
HP:0000546	Retinal degeneration	51412	ACTL6B	ORPHA:442835
HP:0000546	Retinal degeneration	348980	HCN1	ORPHA:442835
HP:0000546	Retinal degeneration	6506	SLC1A2	ORPHA:442835
HP:0000546	Retinal degeneration	8867	SYNJ1	ORPHA:442835
HP:0000546	Retinal degeneration	2258	FGF13	ORPHA:442835
HP:0000546	Retinal degeneration	477	ATP1A2	ORPHA:442835
HP:0000546	Retinal degeneration	3745	KCNB1	ORPHA:442835
HP:0000546	Retinal degeneration	284111	SLC13A5	ORPHA:442835
HP:0000546	Retinal degeneration	25977	NECAP1	ORPHA:442835
HP:0000546	Retinal degeneration	16	AARS1	ORPHA:442835
HP:0000546	Retinal degeneration	6334	SCN8A	ORPHA:442835
HP:0000546	Retinal degeneration	22866	CNKSR2	ORPHA:442835
HP:0000546	Retinal degeneration	9568	GABBR2	ORPHA:442835
HP:0000546	Retinal degeneration	2555	GABRA2	ORPHA:442835
HP:0000546	Retinal degeneration	55152	DALRD3	ORPHA:442835
HP:0000546	Retinal degeneration	773	CACNA1A	ORPHA:442835
HP:0000546	Retinal degeneration	26999	CYFIP2	ORPHA:442835
HP:0000546	Retinal degeneration	4915	NTRK2	ORPHA:442835
HP:0000546	Retinal degeneration	25973	PARS2	ORPHA:442835
HP:0000546	Retinal degeneration	23097	CDK19	ORPHA:442835
HP:0000546	Retinal degeneration	64801	ARV1	ORPHA:442835
HP:0000546	Retinal degeneration	79947	DHDDS	ORPHA:442835
HP:0000546	Retinal degeneration	2257	FGF12	ORPHA:442835
HP:0000546	Retinal degeneration	5530	PPP3CA	ORPHA:442835
HP:0000546	Retinal degeneration	478	ATP1A3	ORPHA:442835
HP:0000546	Retinal degeneration	79158	GNPTAB	OMIM:252600
HP:0000546	Retinal degeneration	3425	IDUA	OMIM:607014
HP:0000546	Retinal degeneration	3425	IDUA	OMIM:607016
HP:0000546	Retinal degeneration	4000	LMNA	ORPHA:79474
HP:0000546	Retinal degeneration	26121	PRPF31	OMIM:600138
HP:0000546	Retinal degeneration	735	C9	OMIM:615591
HP:0000546	Retinal degeneration	83394	PITPNM3	OMIM:600977
HP:0000546	Retinal degeneration	24	ABCA4	OMIM:248200
HP:0000546	Retinal degeneration	24	ABCA4	ORPHA:827
HP:0000546	Retinal degeneration	24	ABCA4	OMIM:153800
HP:0000546	Retinal degeneration	6103	RPGR	OMIM:300834
HP:0000546	Retinal degeneration	84839	RAX2	OMIM:610381
HP:0000546	Retinal degeneration	84839	RAX2	OMIM:613757
HP:0000546	Retinal degeneration	94137	RP1L1	OMIM:618826
HP:0000546	Retinal degeneration	8842	PROM1	ORPHA:827
HP:0000546	Retinal degeneration	8842	PROM1	OMIM:612095
HP:0000546	Retinal degeneration	8842	PROM1	OMIM:603786
HP:0000546	Retinal degeneration	5961	PRPH2	ORPHA:827
HP:0000546	Retinal degeneration	6785	ELOVL4	ORPHA:827
HP:0000546	Retinal degeneration	54714	CNGB3	ORPHA:827
HP:0000546	Retinal degeneration	5654	HTRA1	OMIM:610149
HP:0000546	Retinal degeneration	1471	CST3	OMIM:611953
HP:0000546	Retinal degeneration	130557	ZNF513	OMIM:613617
HP:0000546	Retinal degeneration	10516	FBLN5	OMIM:608895
HP:0000546	Retinal degeneration	10516	FBLN5	OMIM:619764
HP:0000546	Retinal degeneration	23503	ZFYVE26	OMIM:270700
HP:0000546	Retinal degeneration	49855	SCAPER	OMIM:618195
HP:0000546	Retinal degeneration	6011	GRK1	ORPHA:75382
HP:0000546	Retinal degeneration	6295	SAG	ORPHA:75382
HP:0000546	Retinal degeneration	368	ABCC6	OMIM:177850
HP:0000546	Retinal degeneration	368	ABCC6	OMIM:264800
HP:0000546	Retinal degeneration	6017	RLBP1	ORPHA:85128
HP:0000546	Retinal degeneration	6017	RLBP1	OMIM:607475
HP:0000546	Retinal degeneration	64131	XYLT1	OMIM:264800
HP:0000546	Retinal degeneration	64132	XYLT2	OMIM:264800
HP:0000546	Retinal degeneration	123016	TTC8	OMIM:613464
HP:0000546	Retinal degeneration	1356	CP	ORPHA:48818
HP:0000546	Retinal degeneration	9128	PRPF4	OMIM:615922
HP:0000546	Retinal degeneration	224	ALDH3A2	ORPHA:816
HP:0000546	Retinal degeneration	224	ALDH3A2	OMIM:270200
HP:0000546	Retinal degeneration	768206	PRCD	OMIM:610599
HP:0000546	Retinal degeneration	2979	GUCA1B	OMIM:613827
HP:0000546	Retinal degeneration	6314	ATXN7	OMIM:164500
HP:0000546	Retinal degeneration	6314	ATXN7	ORPHA:94147
HP:0000546	Retinal degeneration	80208	SPG11	OMIM:604360
HP:0000546	Retinal degeneration	2192	FBLN1	ORPHA:404451
HP:0000546	Retinal degeneration	427	ASAH1	ORPHA:333
HP:0000546	Retinal degeneration	55129	ANO10	ORPHA:284289
HP:0000546	Retinal degeneration	64218	SEMA4A	OMIM:610283
HP:0000546	Retinal degeneration	5538	PPT1	OMIM:256730
HP:0000546	Retinal degeneration	57096	RPGRIP1	OMIM:608194
HP:0000546	Retinal degeneration	84131	CEP78	OMIM:617236
HP:0000546	Retinal degeneration	404672	GTF2H5	ORPHA:33364
HP:0000546	Retinal degeneration	833	CARS1	ORPHA:33364
HP:0000546	Retinal degeneration	2068	ERCC2	ORPHA:33364
HP:0000546	Retinal degeneration	7737	RNF113A	ORPHA:33364
HP:0000546	Retinal degeneration	136647	MPLKIP	ORPHA:33364
HP:0000546	Retinal degeneration	6897	TARS1	ORPHA:33364
HP:0000546	Retinal degeneration	2071	ERCC3	ORPHA:33364
HP:0000546	Retinal degeneration	2961	GTF2E2	ORPHA:33364
HP:0000546	Retinal degeneration	26146	TRAF3IP1	OMIM:616629
HP:0000546	Retinal degeneration	5076	PAX2	OMIM:120330
HP:0000546	Retinal degeneration	9742	IFT140	OMIM:266920
HP:0000546	Retinal degeneration	3980	LIG3	OMIM:619780
HP:0000546	Retinal degeneration	1201	CLN3	OMIM:204200
HP:0000546	Retinal degeneration	1001	CDH3	ORPHA:1573
HP:0000546	Retinal degeneration	80781	COL18A1	ORPHA:1571
HP:0000546	Retinal degeneration	5062	PAK2	ORPHA:1571
HP:0000546	Retinal degeneration	1258	CNGB1	OMIM:613767
HP:0000546	Retinal degeneration	2201	FBN2	OMIM:616118
HP:0000546	Retinal degeneration	406987	MIR204	OMIM:616722
HP:0000546	Retinal degeneration	10273	STUB1	ORPHA:412057
HP:0000546	Retinal degeneration	1509	CTSD	OMIM:610127
HP:0000546	Retinal degeneration	171023	ASXL1	ORPHA:97297
HP:0000546	Retinal degeneration	92840	REEP6	OMIM:617304
HP:0000546	Retinal degeneration	284217	LAMA1	OMIM:615960
HP:0000546	Retinal degeneration	284217	LAMA1	ORPHA:370022
HP:0000546	Retinal degeneration	57709	SLC7A14	OMIM:615725
HP:0000546	Retinal degeneration	56623	INPP5E	ORPHA:75858
HP:0000546	Retinal degeneration	760	CA2	ORPHA:2785
HP:0000546	Retinal degeneration	29954	POMT2	OMIM:236670
HP:0000546	Retinal degeneration	9215	LARGE1	OMIM:236670
HP:0000546	Retinal degeneration	79147	FKRP	OMIM:236670
HP:0000546	Retinal degeneration	10585	POMT1	OMIM:236670
HP:0000546	Retinal degeneration	2218	FKTN	OMIM:236670
HP:0000546	Retinal degeneration	57724	EPG5	OMIM:242840
HP:0000546	Retinal degeneration	22999	RIMS1	OMIM:603649
HP:0000546	Retinal degeneration	9785	DHX38	OMIM:618220
HP:0000546	Retinal degeneration	7867	MAPKAPK3	OMIM:617111
HP:0000546	Retinal degeneration	128338	DRAM2	OMIM:616502
HP:0000546	Retinal degeneration	23568	ARL2BP	OMIM:615434
HP:0000546	Retinal degeneration	4901	NRL	OMIM:613750
HP:0000546	Retinal degeneration	8565	YARS1	OMIM:619418
HP:0000546	Retinal degeneration	157657	CFAP418	OMIM:614500
HP:0000546	Retinal degeneration	57728	WDR19	OMIM:616307
HP:0000546	Retinal degeneration	9187	SLC24A1	OMIM:613830
HP:0000546	Retinal degeneration	26504	CNNM4	OMIM:217080
HP:0000546	Retinal degeneration	6100	RP9	OMIM:180104
HP:0000546	Retinal degeneration	2978	GUCA1A	OMIM:602093
HP:0000546	Retinal degeneration	2978	GUCA1A	ORPHA:75377
HP:0000546	Retinal degeneration	4990	SIX6	OMIM:212550
HP:0000546	Retinal degeneration	23746	AIPL1	OMIM:604393
HP:0000546	Retinal degeneration	10733	PLK4	OMIM:616171
HP:0000546	Retinal degeneration	3000	GUCY2D	OMIM:601777
HP:0000546	Retinal degeneration	3000	GUCY2D	ORPHA:75377
HP:0000546	Retinal degeneration	6010	RHO	ORPHA:52427
HP:0000546	Retinal degeneration	5959	RDH5	ORPHA:52427
HP:0000546	Retinal degeneration	2629	GBA1	OMIM:230800
HP:0000546	Retinal degeneration	3098	HK1	OMIM:617460
HP:0000546	Retinal degeneration	5130	PCYT1A	ORPHA:85167
HP:0000546	Retinal degeneration	22926	ATF6	OMIM:616517
HP:0000546	Retinal degeneration	169522	KCNV2	OMIM:610356
HP:0000546	Retinal degeneration	10210	TOPORS	OMIM:609923
HP:0000546	Retinal degeneration	7840	ALMS1	ORPHA:64
HP:0000546	Retinal degeneration	5146	PDE6C	ORPHA:49382
HP:0000546	Retinal degeneration	5149	PDE6H	ORPHA:49382
HP:0000546	Retinal degeneration	2780	GNAT2	ORPHA:49382
HP:0000546	Retinal degeneration	1261	CNGA3	ORPHA:49382
HP:0000546	Retinal degeneration	83723	TLCD3B	OMIM:619531
HP:0000546	Retinal degeneration	112752	IFT43	OMIM:617871
HP:0000546	Retinal degeneration	7275	TUB	OMIM:616188
HP:0000546	Retinal degeneration	1406	CRX	OMIM:120970
HP:0000546	Retinal degeneration	8481	OFD1	OMIM:300424
HP:0000546	Retinal degeneration	50939	IMPG2	OMIM:613581
HP:0000546	Retinal degeneration	83552	MFRP	OMIM:611040
HP:0000546	Retinal degeneration	92211	CDHR1	OMIM:613660
HP:0000546	Retinal degeneration	24148	PRPF6	OMIM:613983
HP:0000546	Retinal degeneration	3419	IDH3A	OMIM:619007
HP:0000546	Retinal degeneration	7078	TIMP3	ORPHA:59181
HP:0000546	Retinal degeneration	57670	KIAA1549	OMIM:618613
HP:0000546	Retinal degeneration	23020	SNRNP200	OMIM:610359
HP:0000546	Retinal degeneration	51095	TRNT1	OMIM:616959
HP:0000546	Retinal degeneration	1462	VCAN	OMIM:143200
HP:0000546	Retinal degeneration	51109	RDH11	ORPHA:436245
HP:0000546	Retinal degeneration	79797	ZNF408	OMIM:616468
HP:0000546	Retinal degeneration	114902	C1QTNF5	ORPHA:67042
HP:0000546	Retinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0000546	Retinal degeneration	2202	EFEMP1	OMIM:126600
HP:0000546	Retinal degeneration	3075	CFH	ORPHA:75376
HP:0000546	Retinal degeneration	3426	CFI	ORPHA:75376
HP:0000546	Retinal degeneration	5456	POU3F4	ORPHA:1435
HP:0000546	Retinal degeneration	1280	COL2A1	ORPHA:485
HP:0000546	Retinal degeneration	1280	COL2A1	OMIM:619248
HP:0000546	Retinal degeneration	55214	P3H2	OMIM:614292
HP:0000546	Retinal degeneration	10002	NR2E3	OMIM:611131
HP:0000546	Retinal degeneration	7439	BEST1	ORPHA:1243
HP:0000546	Retinal degeneration	7439	BEST1	OMIM:153700
HP:0000546	Retinal degeneration	3769	KCNJ13	OMIM:193230
HP:0000546	Retinal degeneration	64802	NMNAT1	OMIM:619260
HP:0000546	Retinal degeneration	138050	HGSNAT	OMIM:616544
HP:0000546	Retinal degeneration	3614	IMPDH1	OMIM:180105
HP:0000546	Retinal degeneration	348	APOE	OMIM:603075
HP:0000546	Retinal degeneration	83872	HMCN1	OMIM:603075
HP:0000546	Retinal degeneration	3078	CFHR1	OMIM:603075
HP:0000546	Retinal degeneration	10878	CFHR3	OMIM:603075
HP:0000546	Retinal degeneration	3105	HLA-A	ORPHA:179
HP:0000546	Retinal degeneration	6452	SH3BP2	OMIM:118400
HP:0000546	Retinal degeneration	10461	MERTK	OMIM:613862
HP:0000546	Retinal degeneration	5950	RBP4	OMIM:615147
HP:0000546	Retinal degeneration	6533	SLC6A6	OMIM:145350
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	2811	GP1BA	OMIM:258660
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	4854	NOTCH3	OMIM:125310
HP:0000471	Gastrointestinal angiodysplasia	94	ACVRL1	OMIM:600376
HP:0000471	Gastrointestinal angiodysplasia	2022	ENG	OMIM:187300
HP:0000471	Gastrointestinal angiodysplasia	7450	VWF	OMIM:193400
HP:0000472	Long neck	10682	EBP	ORPHA:401973
HP:0000472	Long neck	10682	EBP	OMIM:300960
HP:0000472	Long neck	8925	HERC1	ORPHA:457359
HP:0000472	Long neck	8925	HERC1	OMIM:617011
HP:0000472	Long neck	2316	FLNA	OMIM:309350
HP:0000472	Long neck	2138	EYA1	OMIM:166780
HP:0000472	Long neck	538	ATP7A	OMIM:304150
HP:0000472	Long neck	11128	POLR3A	OMIM:264090
HP:0000472	Long neck	2556	GABRA3	OMIM:301091
HP:0000473	Torticollis	25792	CIZ1	ORPHA:420492
HP:0000473	Torticollis	58	ACTA1	ORPHA:97240
HP:0000473	Torticollis	10749	KIF1C	ORPHA:397946
HP:0000473	Torticollis	10749	KIF1C	OMIM:611302
HP:0000473	Torticollis	2643	GCH1	OMIM:128230
HP:0000473	Torticollis	2643	GCH1	ORPHA:98808
HP:0000473	Torticollis	1291	COL6A1	OMIM:254090
HP:0000473	Torticollis	1291	COL6A1	ORPHA:75840
HP:0000473	Torticollis	1291	COL6A1	OMIM:158810
HP:0000473	Torticollis	1292	COL6A2	OMIM:254090
HP:0000473	Torticollis	1292	COL6A2	ORPHA:75840
HP:0000473	Torticollis	1292	COL6A2	OMIM:158810
HP:0000473	Torticollis	1293	COL6A3	OMIM:254090
HP:0000473	Torticollis	1293	COL6A3	ORPHA:75840
HP:0000473	Torticollis	1293	COL6A3	OMIM:616411
HP:0000473	Torticollis	1293	COL6A3	OMIM:158810
HP:0000473	Torticollis	2774	GNAL	OMIM:615073
HP:0000473	Torticollis	2774	GNAL	ORPHA:329466
HP:0000473	Torticollis	1356	CP	OMIM:604290
HP:0000473	Torticollis	1356	CP	ORPHA:48818
HP:0000473	Torticollis	478	ATP1A3	OMIM:128235
HP:0000473	Torticollis	478	ATP1A3	ORPHA:71517
HP:0000473	Torticollis	1303	COL12A1	ORPHA:75840
HP:0000473	Torticollis	3208	HPCA	ORPHA:99657
HP:0000473	Torticollis	3208	HPCA	OMIM:224500
HP:0000473	Torticollis	5575	PRKAR1B	OMIM:619680
HP:0000473	Torticollis	55187	VPS13D	OMIM:607317
HP:0000473	Torticollis	91754	NEK9	OMIM:617022
HP:0000473	Torticollis	81790	RNF170	OMIM:619686
HP:0000473	Torticollis	387119	CEP85L	OMIM:618873
HP:0000473	Torticollis	3781	KCNN2	OMIM:619724
HP:0000473	Torticollis	1644	DDC	OMIM:608643
HP:0000473	Torticollis	64221	ROBO3	OMIM:607313
HP:0000473	Torticollis	63982	ANO3	ORPHA:420485
HP:0000473	Torticollis	63982	ANO3	OMIM:615034
HP:0000473	Torticollis	343641	TGM6	OMIM:613908
HP:0000473	Torticollis	343641	TGM6	ORPHA:276193
HP:0000473	Torticollis	8575	PRKRA	ORPHA:210571
HP:0000473	Torticollis	64601	VPS16	OMIM:619291
HP:0000473	Torticollis	25953	PNKD	OMIM:118800
HP:0000473	Torticollis	25953	PNKD	ORPHA:98810
HP:0000473	Torticollis	116228	COX20	OMIM:619054
HP:0000473	Torticollis	8260	NAA10	OMIM:300855
HP:0000473	Torticollis	8260	NAA10	ORPHA:276432
HP:0000473	Torticollis	10381	TUBB3	ORPHA:300570
HP:0000473	Torticollis	54834	GDAP2	OMIM:618369
HP:0000473	Torticollis	23400	ATP13A2	OMIM:606693
HP:0000473	Torticollis	7703	PCGF2	OMIM:618371
HP:0000473	Torticollis	773	CACNA1A	ORPHA:97
HP:0000473	Torticollis	773	CACNA1A	ORPHA:71518
HP:0000473	Torticollis	1813	DRD2	ORPHA:36899
HP:0000473	Torticollis	8910	SGCE	ORPHA:36899
HP:0000473	Torticollis	8910	SGCE	OMIM:159900
HP:0000473	Torticollis	79734	KCTD17	ORPHA:36899
HP:0000473	Torticollis	79734	KCTD17	OMIM:616398
HP:0000473	Torticollis	1861	TOR1A	ORPHA:36899
HP:0000473	Torticollis	1861	TOR1A	OMIM:128100
HP:0000473	Torticollis	84504	NKX6-2	OMIM:617560
HP:0000473	Torticollis	10935	PRDX3	OMIM:619862
HP:0000473	Torticollis	9757	KMT2B	OMIM:617284
HP:0000473	Torticollis	9757	KMT2B	ORPHA:589618
HP:0000473	Torticollis	2313	FLI1	ORPHA:370348
HP:0000473	Torticollis	112476	PRRT2	ORPHA:98810
HP:0000473	Torticollis	1267	CNP	OMIM:619071
HP:0000473	Torticollis	8558	CDK10	OMIM:617694
HP:0000473	Torticollis	6711	SPTBN1	OMIM:619475
HP:0000473	Torticollis	4929	NR4A2	ORPHA:98808
HP:0000473	Torticollis	3615	IMPDH2	ORPHA:98808
HP:0000473	Torticollis	10382	TUBB4A	ORPHA:98805
HP:0000473	Torticollis	10382	TUBB4A	OMIM:128101
HP:0000473	Torticollis	7701	ZNF142	OMIM:618425
HP:0000473	Torticollis	55145	THAP1	ORPHA:98806
HP:0000473	Torticollis	55145	THAP1	OMIM:602629
HP:0000473	Torticollis	3098	HK1	OMIM:618547
HP:0000473	Torticollis	55823	VPS11	OMIM:619637
HP:0000473	Torticollis	3748	KCNC3	ORPHA:98768
HP:0000473	Torticollis	80036	TRPM3	OMIM:620224
HP:0000473	Torticollis	11198	SUPT16H	OMIM:619480
HP:0000473	Torticollis	79796	ALG9	ORPHA:79328
HP:0000473	Torticollis	78989	COLEC11	OMIM:265050
HP:0000473	Torticollis	128240	NAXE	OMIM:617186
HP:0000473	Torticollis	4617	MYF5	OMIM:618155
HP:0000473	Torticollis	6663	SOX10	OMIM:609136
HP:0000473	Torticollis	6908	TBP	ORPHA:98759
HP:0000473	Torticollis	126792	B3GALT6	ORPHA:536467
HP:0000473	Torticollis	2898	GRIK2	OMIM:611092
HP:0000473	Torticollis	8831	SYNGAP1	OMIM:612621
HP:0000473	Torticollis	256472	TMEM151A	OMIM:620245
HP:0000473	Torticollis	3679	ITGA7	OMIM:613204
HP:0000473	Torticollis	7042	TGFB2	OMIM:614816
HP:0000473	Torticollis	6342	SCP2	OMIM:613724
HP:0000473	Torticollis	59341	TRPV4	OMIM:181405
HP:0000473	Torticollis	57679	ALS2	OMIM:205100
HP:0000473	Torticollis	57679	ALS2	ORPHA:300605
HP:0000473	Torticollis	2521	FUS	ORPHA:300605
HP:0000473	Torticollis	80208	SPG11	ORPHA:300605
HP:0000473	Torticollis	10280	SIGMAR1	ORPHA:300605
HP:0000473	Torticollis	10558	SPTLC1	ORPHA:300605
HP:0000473	Torticollis	4137	MAPT	OMIM:601104
HP:0000474	Thickened nuchal skin fold	10682	EBP	ORPHA:401973
HP:0000474	Thickened nuchal skin fold	10128	LRPPRC	OMIM:220111
HP:0000474	Thickened nuchal skin fold	2294	FOXF1	OMIM:265380
HP:0000474	Thickened nuchal skin fold	3190	HNRNPK	OMIM:616580
HP:0000474	Thickened nuchal skin fold	84231	TRAF7	OMIM:618164
HP:0000474	Thickened nuchal skin fold	1947	EFNB1	ORPHA:1520
HP:0000474	Thickened nuchal skin fold	100151683	RNU4ATAC	ORPHA:2636
HP:0000474	Thickened nuchal skin fold	23556	PIGN	ORPHA:2059
HP:0000474	Thickened nuchal skin fold	7355	SLC35A2	ORPHA:356961
HP:0000474	Thickened nuchal skin fold	1836	SLC26A2	ORPHA:93298
HP:0000474	Thickened nuchal skin fold	22800	RRAS2	ORPHA:648
HP:0000474	Thickened nuchal skin fold	867	CBL	ORPHA:648
HP:0000474	Thickened nuchal skin fold	8216	LZTR1	ORPHA:648
HP:0000474	Thickened nuchal skin fold	6016	RIT1	ORPHA:648
HP:0000474	Thickened nuchal skin fold	6237	RRAS	ORPHA:648
HP:0000474	Thickened nuchal skin fold	5894	RAF1	ORPHA:648
HP:0000474	Thickened nuchal skin fold	22808	MRAS	ORPHA:648
HP:0000474	Thickened nuchal skin fold	3845	KRAS	ORPHA:648
HP:0000474	Thickened nuchal skin fold	200734	SPRED2	ORPHA:648
HP:0000474	Thickened nuchal skin fold	4893	NRAS	ORPHA:648
HP:0000474	Thickened nuchal skin fold	6654	SOS1	ORPHA:648
HP:0000474	Thickened nuchal skin fold	6655	SOS2	ORPHA:648
HP:0000474	Thickened nuchal skin fold	5781	PTPN11	ORPHA:648
HP:0000474	Thickened nuchal skin fold	5922	RASA2	ORPHA:648
HP:0000474	Thickened nuchal skin fold	9321	TRIP11	ORPHA:93299
HP:0000474	Thickened nuchal skin fold	526	ATP6V1B2	ORPHA:79500
HP:0000474	Thickened nuchal skin fold	57465	TBC1D24	ORPHA:79500
HP:0000474	Thickened nuchal skin fold	57465	TBC1D24	OMIM:220500
HP:0000474	Thickened nuchal skin fold	79796	ALG9	ORPHA:79328
HP:0000474	Thickened nuchal skin fold	79796	ALG9	OMIM:263210
HP:0000474	Thickened nuchal skin fold	3265	HRAS	ORPHA:3071
HP:0000474	Thickened nuchal skin fold	29968	PSAT1	ORPHA:284417
HP:0000474	Thickened nuchal skin fold	2623	GATA1	OMIM:190685
HP:0000474	Thickened nuchal skin fold	25978	CHMP2B	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	25978	CHMP2B	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	5663	PSEN1	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	5663	PSEN1	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	2896	GRN	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	2896	GRN	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	54664	TMEM106B	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	54664	TMEM106B	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	8878	SQSTM1	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	4137	MAPT	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	4137	MAPT	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	54209	TREM2	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	54209	TREM2	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	7415	VCP	ORPHA:275864
HP:0000474	Thickened nuchal skin fold	7415	VCP	ORPHA:100070
HP:0000474	Thickened nuchal skin fold	5167	ENPP1	ORPHA:758
HP:0000474	Thickened nuchal skin fold	368	ABCC6	ORPHA:758
HP:0000474	Thickened nuchal skin fold	55670	PEX26	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5824	PEX19	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5828	PEX2	ORPHA:912
HP:0000474	Thickened nuchal skin fold	8504	PEX3	ORPHA:912
HP:0000474	Thickened nuchal skin fold	8799	PEX11B	ORPHA:912
HP:0000474	Thickened nuchal skin fold	9409	PEX16	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5190	PEX6	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5830	PEX5	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5189	PEX1	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5193	PEX12	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5194	PEX13	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5195	PEX14	ORPHA:912
HP:0000474	Thickened nuchal skin fold	5192	PEX10	ORPHA:912
HP:0000474	Thickened nuchal skin fold	3911	LAMA5	OMIM:620076
HP:0000475	Broad neck	3476	IGBP1	OMIM:300472
HP:0000475	Broad neck	9895	TECPR2	ORPHA:320385
HP:0000475	Broad neck	9895	TECPR2	OMIM:615031
HP:0000475	Broad neck	5913	RAPSN	OMIM:618388
HP:0000475	Broad neck	145173	B3GLCT	OMIM:261540
HP:0000475	Broad neck	9968	MED12	ORPHA:93932
HP:0000475	Broad neck	7476	WNT7A	OMIM:276820
HP:0000475	Broad neck	6513	SLC2A1	ORPHA:168577
HP:0000475	Broad neck	219844	HYLS1	OMIM:236680
HP:0000475	Broad neck	6840	SVIL	OMIM:619040
HP:0000475	Broad neck	23116	TOGARAM1	OMIM:619185
HP:0000475	Broad neck	4927	NUP88	OMIM:618393
HP:0000475	Broad neck	7319	UBE2A	OMIM:300860
HP:0000475	Broad neck	7319	UBE2A	ORPHA:163956
HP:0000475	Broad neck	4763	NF1	ORPHA:363700
HP:0000475	Broad neck	7750	ZMYM2	OMIM:619522
HP:0000475	Broad neck	5718	PSMD12	ORPHA:529962
HP:0000475	Broad neck	2186	BPTF	ORPHA:529962
HP:0000475	Broad neck	57647	DHX37	OMIM:618731
HP:0000475	Broad neck	28952	CCDC22	OMIM:300963
HP:0000475	Broad neck	84667	HES7	OMIM:613686
HP:0000475	Broad neck	1954	MEGF8	OMIM:614976
HP:0000475	Broad neck	5426	POLE	OMIM:618336
HP:0000475	Broad neck	5500	PPP1CB	OMIM:617506
HP:0000475	Broad neck	7291	TWIST1	OMIM:617746
HP:0000475	Broad neck	10982	MAPRE2	OMIM:616734
HP:0000475	Broad neck	6231	RPS26	OMIM:613309
HP:0000475	Broad neck	2273	FHL1	OMIM:300280
HP:0000475	Broad neck	26227	PHGDH	OMIM:256520
HP:0000475	Broad neck	9382	COG1	ORPHA:263508
HP:0000475	Broad neck	6234	RPS28	OMIM:606164
HP:0000476	Cystic hygroma	3930	LBR	OMIM:215140
HP:0000476	Cystic hygroma	4927	NUP88	ORPHA:994
HP:0000476	Cystic hygroma	7846	TUBA1A	ORPHA:994
HP:0000476	Cystic hygroma	4654	MYOD1	ORPHA:994
HP:0000476	Cystic hygroma	4654	MYOD1	OMIM:618975
HP:0000476	Cystic hygroma	4593	MUSK	ORPHA:994
HP:0000476	Cystic hygroma	4593	MUSK	OMIM:208150
HP:0000476	Cystic hygroma	5913	RAPSN	ORPHA:994
HP:0000476	Cystic hygroma	6572	SLC18A3	ORPHA:994
HP:0000476	Cystic hygroma	285489	DOK7	ORPHA:994
HP:0000476	Cystic hygroma	2294	FOXF1	OMIM:265380
HP:0000476	Cystic hygroma	84231	TRAF7	OMIM:618164
HP:0000476	Cystic hygroma	23483	TGDS	OMIM:616145
HP:0000476	Cystic hygroma	94005	PIGS	OMIM:618143
HP:0000476	Cystic hygroma	57539	WDR35	OMIM:613610
HP:0000476	Cystic hygroma	57539	WDR35	OMIM:614091
HP:0000476	Cystic hygroma	1836	SLC26A2	ORPHA:93298
HP:0000476	Cystic hygroma	22800	RRAS2	ORPHA:648
HP:0000476	Cystic hygroma	867	CBL	ORPHA:648
HP:0000476	Cystic hygroma	8216	LZTR1	ORPHA:648
HP:0000476	Cystic hygroma	6016	RIT1	ORPHA:648
HP:0000476	Cystic hygroma	6237	RRAS	ORPHA:648
HP:0000476	Cystic hygroma	5894	RAF1	ORPHA:648
HP:0000476	Cystic hygroma	22808	MRAS	ORPHA:648
HP:0000476	Cystic hygroma	3845	KRAS	ORPHA:648
HP:0000476	Cystic hygroma	3845	KRAS	OMIM:609942
HP:0000476	Cystic hygroma	200734	SPRED2	ORPHA:648
HP:0000476	Cystic hygroma	4893	NRAS	ORPHA:648
HP:0000476	Cystic hygroma	6654	SOS1	ORPHA:648
HP:0000476	Cystic hygroma	6655	SOS2	ORPHA:648
HP:0000476	Cystic hygroma	5781	PTPN11	ORPHA:648
HP:0000476	Cystic hygroma	5781	PTPN11	OMIM:163950
HP:0000476	Cystic hygroma	5922	RASA2	ORPHA:648
HP:0000476	Cystic hygroma	9321	TRIP11	ORPHA:93299
HP:0000476	Cystic hygroma	55165	CEP55	OMIM:236500
HP:0000476	Cystic hygroma	3190	HNRNPK	ORPHA:352665
HP:0000476	Cystic hygroma	3190	HNRNPK	ORPHA:453504
HP:0000476	Cystic hygroma	157570	ESCO2	OMIM:268300
HP:0000476	Cystic hygroma	1280	COL2A1	OMIM:200610
HP:0000476	Cystic hygroma	9578	CDC42BPB	OMIM:619841
HP:0000476	Cystic hygroma	55640	FLVCR2	OMIM:225790
HP:0000476	Cystic hygroma	2303	FOXC2	OMIM:153400
HP:0000476	Cystic hygroma	84162	BLTP1	OMIM:617822
HP:0000476	Cystic hygroma	112752	IFT43	OMIM:617866
HP:0000476	Cystic hygroma	55784	MCTP2	ORPHA:1596
HP:0000476	Cystic hygroma	1146	CHRNG	OMIM:253290
HP:0000476	Cystic hygroma	1144	CHRND	OMIM:253290
HP:0000476	Cystic hygroma	1134	CHRNA1	OMIM:253290
HP:0000476	Cystic hygroma	51259	TMEM216	OMIM:603194
HP:0000476	Cystic hygroma	10683	DLL3	OMIM:277300
HP:0000476	Cystic hygroma	145873	MESP2	OMIM:277300
HP:0000476	Cystic hygroma	3911	LAMA5	OMIM:620076
HP:0000476	Cystic hygroma	29980	DONSON	OMIM:251230
HP:0000476	Cystic hygroma	5604	MAP2K1	OMIM:163950
HP:0000476	Cystic hygroma	673	BRAF	OMIM:163950
HP:0000478	Abnormality of the eye	57082	KNL1	OMIM:604321
HP:0000478	Abnormality of the eye	10606	PAICS	OMIM:619859
HP:0000478	Abnormality of the eye	23512	SUZ12	OMIM:618786
HP:0000478	Abnormality of the eye	23512	SUZ12	ORPHA:3447
HP:0000478	Abnormality of the eye	8558	CDK10	OMIM:617694
HP:0000478	Abnormality of the eye	8516	ITGA8	ORPHA:1848
HP:0000478	Abnormality of the eye	8516	ITGA8	OMIM:191830
HP:0000478	Abnormality of the eye	26281	FGF20	ORPHA:1848
HP:0000478	Abnormality of the eye	2674	GFRA1	ORPHA:1848
HP:0000478	Abnormality of the eye	7484	WNT9B	ORPHA:1848
HP:0000478	Abnormality of the eye	80000	GREB1L	ORPHA:1848
HP:0000478	Abnormality of the eye	64919	BCL11B	OMIM:617237
HP:0000478	Abnormality of the eye	64919	BCL11B	OMIM:618092
HP:0000478	Abnormality of the eye	56160	NSMCE3	OMIM:617241
HP:0000478	Abnormality of the eye	7372	UMPS	ORPHA:30
HP:0000478	Abnormality of the eye	23114	NFASC	OMIM:618356
HP:0000478	Abnormality of the eye	3039	HBA1	ORPHA:98791
HP:0000478	Abnormality of the eye	3040	HBA2	ORPHA:98791
HP:0000478	Abnormality of the eye	551	AVP	OMIM:125700
HP:0000478	Abnormality of the eye	63931	MRPS14	OMIM:618378
HP:0000478	Abnormality of the eye	4927	NUP88	ORPHA:994
HP:0000478	Abnormality of the eye	8812	CCNK	OMIM:618147
HP:0000478	Abnormality of the eye	348180	CTU2	OMIM:618142
HP:0000478	Abnormality of the eye	23387	SIK3	OMIM:618162
HP:0000478	Abnormality of the eye	10020	GNE	ORPHA:3166
HP:0000478	Abnormality of the eye	10020	GNE	OMIM:269921
HP:0000478	Abnormality of the eye	84081	NSRP1	OMIM:620001
HP:0000478	Abnormality of the eye	168667	BMPER	OMIM:608022
HP:0000478	Abnormality of the eye	894	CCND2	ORPHA:83473
HP:0000478	Abnormality of the eye	1272	CNTN1	OMIM:612540
HP:0000478	Abnormality of the eye	1801	DPH1	OMIM:616901
HP:0000478	Abnormality of the eye	1801	DPH1	ORPHA:459061
HP:0000478	Abnormality of the eye	3070	HELLS	OMIM:616911
HP:0000478	Abnormality of the eye	3070	HELLS	ORPHA:2268
HP:0000478	Abnormality of the eye	57217	TTC7A	OMIM:243150
HP:0000478	Abnormality of the eye	64327	LMBR1	ORPHA:2378
HP:0000478	Abnormality of the eye	3675	ITGA3	OMIM:614748
HP:0000478	Abnormality of the eye	23522	KAT6B	ORPHA:85201
HP:0000478	Abnormality of the eye	10472	ZBTB18	OMIM:612337
HP:0000478	Abnormality of the eye	10472	ZBTB18	ORPHA:36367
HP:0000478	Abnormality of the eye	6509	SLC1A4	ORPHA:447997
HP:0000478	Abnormality of the eye	132	ADK	OMIM:614300
HP:0000478	Abnormality of the eye	11133	KPTN	OMIM:615637
HP:0000478	Abnormality of the eye	3097	HIVEP2	OMIM:616977
HP:0000478	Abnormality of the eye	7547	ZIC3	OMIM:306955
HP:0000478	Abnormality of the eye	57211	ADGRG6	OMIM:616503
HP:0000478	Abnormality of the eye	3759	KCNJ2	OMIM:170390
HP:0000478	Abnormality of the eye	3759	KCNJ2	ORPHA:37553
HP:0000478	Abnormality of the eye	860	RUNX2	ORPHA:1452
HP:0000478	Abnormality of the eye	860	RUNX2	OMIM:119600
HP:0000478	Abnormality of the eye	1748	DLX4	OMIM:616788
HP:0000478	Abnormality of the eye	55553	SOX6	OMIM:618971
HP:0000478	Abnormality of the eye	79875	THSD4	OMIM:619825
HP:0000478	Abnormality of the eye	3762	KCNJ5	ORPHA:37553
HP:0000478	Abnormality of the eye	50651	SLC45A1	OMIM:617532
HP:0000478	Abnormality of the eye	9853	RUSC2	OMIM:617773
HP:0000478	Abnormality of the eye	8425	LTBP4	OMIM:613177
HP:0000478	Abnormality of the eye	51319	RSRC1	OMIM:618402
HP:0000478	Abnormality of the eye	9037	SEMA5A	ORPHA:281
HP:0000478	Abnormality of the eye	1789	DNMT3B	OMIM:242860
HP:0000478	Abnormality of the eye	1789	DNMT3B	ORPHA:2268
HP:0000478	Abnormality of the eye	85301	COL27A1	OMIM:615155
HP:0000478	Abnormality of the eye	7531	YWHAE	ORPHA:217385
HP:0000478	Abnormality of the eye	9841	ZBTB24	OMIM:614069
HP:0000478	Abnormality of the eye	9841	ZBTB24	ORPHA:2268
HP:0000478	Abnormality of the eye	4247	MGAT2	ORPHA:79329
HP:0000478	Abnormality of the eye	2796	GNRH1	ORPHA:432
HP:0000478	Abnormality of the eye	2798	GNRHR	ORPHA:432
HP:0000478	Abnormality of the eye	84634	KISS1R	ORPHA:432
HP:0000478	Abnormality of the eye	6866	TAC3	ORPHA:432
HP:0000478	Abnormality of the eye	3814	KISS1	ORPHA:432
HP:0000478	Abnormality of the eye	650	BMP2	ORPHA:261295
HP:0000478	Abnormality of the eye	83999	KREMEN1	OMIM:617392
HP:0000478	Abnormality of the eye	50619	DEF6	OMIM:619573
HP:0000478	Abnormality of the eye	8604	SLC25A12	OMIM:612949
HP:0000478	Abnormality of the eye	9791	PTDSS1	OMIM:151050
HP:0000478	Abnormality of the eye	9791	PTDSS1	ORPHA:2658
HP:0000478	Abnormality of the eye	23405	DICER1	OMIM:618272
HP:0000478	Abnormality of the eye	2571	GAD1	OMIM:619124
HP:0000478	Abnormality of the eye	118924	FRA10AC1	OMIM:620113
HP:0000478	Abnormality of the eye	57020	VPS35L	OMIM:619135
HP:0000478	Abnormality of the eye	23154	NCDN	OMIM:619373
HP:0000478	Abnormality of the eye	221692	PHACTR1	OMIM:618298
HP:0000478	Abnormality of the eye	11113	CIT	OMIM:617090
HP:0000478	Abnormality of the eye	95	ACY1	ORPHA:137754
HP:0000478	Abnormality of the eye	95	ACY1	OMIM:609924
HP:0000478	Abnormality of the eye	5826	ABCD4	OMIM:614857
HP:0000478	Abnormality of the eye	10430	TMEM147	OMIM:620075
HP:0000478	Abnormality of the eye	57222	ERGIC1	ORPHA:1143
HP:0000478	Abnormality of the eye	27152	INTU	OMIM:617925
HP:0000478	Abnormality of the eye	579	NKX3-2	OMIM:613330
HP:0000478	Abnormality of the eye	9325	TRIP4	OMIM:616866
HP:0000478	Abnormality of the eye	7067	THRA	OMIM:614450
HP:0000478	Abnormality of the eye	54796	BNC2	ORPHA:93110
HP:0000478	Abnormality of the eye	202018	TAPT1	OMIM:616897
HP:0000478	Abnormality of the eye	5307	PITX1	OMIM:119800
HP:0000478	Abnormality of the eye	4312	MMP1	ORPHA:79408
HP:0000478	Abnormality of the eye	1294	COL7A1	ORPHA:79408
HP:0000478	Abnormality of the eye	1294	COL7A1	ORPHA:79409
HP:0000478	Abnormality of the eye	1294	COL7A1	ORPHA:79410
HP:0000478	Abnormality of the eye	1294	COL7A1	ORPHA:79411
HP:0000478	Abnormality of the eye	57104	PNPLA2	ORPHA:565612
HP:0000478	Abnormality of the eye	1500	CTNND1	ORPHA:1997
HP:0000478	Abnormality of the eye	999	CDH1	ORPHA:1997
HP:0000478	Abnormality of the eye	84818	IL17RC	ORPHA:1334
HP:0000478	Abnormality of the eye	64581	CLEC7A	ORPHA:1334
HP:0000478	Abnormality of the eye	23765	IL17RA	ORPHA:1334
HP:0000478	Abnormality of the eye	112744	IL17F	ORPHA:1334
HP:0000478	Abnormality of the eye	4534	MTM1	ORPHA:596
HP:0000478	Abnormality of the eye	25885	POLR1A	ORPHA:1200
HP:0000478	Abnormality of the eye	10907	TXNL4A	ORPHA:1200
HP:0000478	Abnormality of the eye	153201	SLC36A2	OMIM:242600
HP:0000478	Abnormality of the eye	1512	CTSH	ORPHA:2073
HP:0000478	Abnormality of the eye	5032	P2RY11	ORPHA:2073
HP:0000478	Abnormality of the eye	4340	MOG	ORPHA:2073
HP:0000478	Abnormality of the eye	3060	HCRT	ORPHA:2073
HP:0000478	Abnormality of the eye	22891	ZNF365	ORPHA:2073
HP:0000478	Abnormality of the eye	7292	TNFSF4	ORPHA:2073
HP:0000478	Abnormality of the eye	3081	HGD	ORPHA:56
HP:0000478	Abnormality of the eye	3229	HOXC13	OMIM:614931
HP:0000478	Abnormality of the eye	5649	RELN	ORPHA:89844
HP:0000478	Abnormality of the eye	10300	KATNB1	ORPHA:89844
HP:0000478	Abnormality of the eye	4123	MAN2C1	OMIM:619775
HP:0000478	Abnormality of the eye	26005	C2CD3	ORPHA:434179
HP:0000478	Abnormality of the eye	26005	C2CD3	OMIM:615948
HP:0000478	Abnormality of the eye	27019	DNAI1	OMIM:244400
HP:0000478	Abnormality of the eye	3909	LAMA3	ORPHA:79404
HP:0000478	Abnormality of the eye	3918	LAMC2	ORPHA:79404
HP:0000478	Abnormality of the eye	3914	LAMB3	ORPHA:79404
HP:0000478	Abnormality of the eye	1277	COL1A1	ORPHA:287
HP:0000478	Abnormality of the eye	1289	COL5A1	ORPHA:287
HP:0000478	Abnormality of the eye	1290	COL5A2	ORPHA:287
HP:0000478	Abnormality of the eye	1954	MEGF8	ORPHA:65759
HP:0000478	Abnormality of the eye	387700	SLC16A12	OMIM:612018
HP:0000478	Abnormality of the eye	402	ARL2	OMIM:619082
HP:0000478	Abnormality of the eye	92344	GORAB	ORPHA:2078
HP:0000478	Abnormality of the eye	7528	YY1	ORPHA:506358
HP:0000478	Abnormality of the eye	8036	SHOC2	OMIM:607721
HP:0000478	Abnormality of the eye	30000	TNPO2	OMIM:619556
HP:0000478	Abnormality of the eye	9158	FIBP	ORPHA:500095
HP:0000478	Abnormality of the eye	10765	KDM5B	OMIM:618109
HP:0000478	Abnormality of the eye	55209	SETD5	OMIM:615761
HP:0000478	Abnormality of the eye	55777	MBD5	OMIM:156200
HP:0000478	Abnormality of the eye	55870	ASH1L	OMIM:617796
HP:0000478	Abnormality of the eye	54496	PRMT7	OMIM:617157
HP:0000478	Abnormality of the eye	1108	CHD4	OMIM:617159
HP:0000478	Abnormality of the eye	6045	RNF2	OMIM:619460
HP:0000478	Abnormality of the eye	26040	SETBP1	OMIM:616078
HP:0000478	Abnormality of the eye	165	AEBP1	ORPHA:536532
HP:0000478	Abnormality of the eye	2743	GLRB	OMIM:614619
HP:0000478	Abnormality of the eye	253738	EBF3	OMIM:617330
HP:0000478	Abnormality of the eye	4659	PPP1R12A	OMIM:618820
HP:0000478	Abnormality of the eye	283446	MYO1H	OMIM:619482
HP:0000478	Abnormality of the eye	2890	GRIA1	OMIM:619927
HP:0000478	Abnormality of the eye	51341	ZBTB7A	OMIM:619769
HP:0000478	Abnormality of the eye	80267	EDEM3	OMIM:619493
HP:0000478	Abnormality of the eye	55181	SMG8	OMIM:619268
HP:0000478	Abnormality of the eye	26173	INTS1	OMIM:618571
HP:0000478	Abnormality of the eye	5515	PPP2CA	OMIM:618354
HP:0000478	Abnormality of the eye	285590	SH3PXD2B	OMIM:249420
HP:0000478	Abnormality of the eye	340533	NEXMIF	OMIM:300912
HP:0000478	Abnormality of the eye	1139	CHRNA7	ORPHA:199318
HP:0000478	Abnormality of the eye	1139	CHRNA7	OMIM:612001
HP:0000478	Abnormality of the eye	23135	KDM6B	OMIM:618505
HP:0000478	Abnormality of the eye	1024	CDK8	OMIM:618748
HP:0000478	Abnormality of the eye	7021	TFAP2B	OMIM:169100
HP:0000478	Abnormality of the eye	7021	TFAP2B	ORPHA:46627
HP:0000478	Abnormality of the eye	10743	RAI1	ORPHA:477817
HP:0000478	Abnormality of the eye	10743	RAI1	ORPHA:819
HP:0000478	Abnormality of the eye	80816	ASXL3	OMIM:615485
HP:0000478	Abnormality of the eye	80816	ASXL3	ORPHA:352577
HP:0000478	Abnormality of the eye	56997	COQ8A	ORPHA:139485
HP:0000478	Abnormality of the eye	56997	COQ8A	OMIM:612016
HP:0000478	Abnormality of the eye	283489	CHAMP1	OMIM:616579
HP:0000478	Abnormality of the eye	818	CAMK2G	OMIM:618522
HP:0000478	Abnormality of the eye	8493	PPM1D	OMIM:617450
HP:0000478	Abnormality of the eye	55773	TBC1D23	OMIM:617695
HP:0000478	Abnormality of the eye	55280	CWF19L1	OMIM:616127
HP:0000478	Abnormality of the eye	56098	PCDHGC4	OMIM:619880
HP:0000478	Abnormality of the eye	113179	ADAT3	OMIM:615286
HP:0000478	Abnormality of the eye	113179	ADAT3	ORPHA:363528
HP:0000478	Abnormality of the eye	1742	DLG4	OMIM:618793
HP:0000478	Abnormality of the eye	163175	LGI4	OMIM:617468
HP:0000478	Abnormality of the eye	9772	TMEM94	OMIM:618316
HP:0000478	Abnormality of the eye	10667	FARS2	ORPHA:466722
HP:0000478	Abnormality of the eye	6135	RPL11	ORPHA:124
HP:0000478	Abnormality of the eye	6138	RPL15	ORPHA:124
HP:0000478	Abnormality of the eye	6229	RPS24	ORPHA:124
HP:0000478	Abnormality of the eye	6125	RPL5	ORPHA:124
HP:0000478	Abnormality of the eye	6204	RPS10	ORPHA:124
HP:0000478	Abnormality of the eye	6165	RPL35A	ORPHA:124
HP:0000478	Abnormality of the eye	6223	RPS19	ORPHA:124
HP:0000478	Abnormality of the eye	6223	RPS19	OMIM:105650
HP:0000478	Abnormality of the eye	6232	RPS27	ORPHA:124
HP:0000478	Abnormality of the eye	6231	RPS26	ORPHA:124
HP:0000478	Abnormality of the eye	11224	RPL35	ORPHA:124
HP:0000478	Abnormality of the eye	6160	RPL31	ORPHA:124
HP:0000478	Abnormality of the eye	6218	RPS17	ORPHA:124
HP:0000478	Abnormality of the eye	6201	RPS7	ORPHA:124
HP:0000478	Abnormality of the eye	6155	RPL27	ORPHA:124
HP:0000478	Abnormality of the eye	6154	RPL26	ORPHA:124
HP:0000478	Abnormality of the eye	6210	RPS15A	ORPHA:124
HP:0000478	Abnormality of the eye	90121	TSR2	ORPHA:124
HP:0000478	Abnormality of the eye	6141	RPL18	ORPHA:124
HP:0000478	Abnormality of the eye	6235	RPS29	ORPHA:124
HP:0000478	Abnormality of the eye	6234	RPS28	ORPHA:124
HP:0000478	Abnormality of the eye	9949	AMMECR1	OMIM:300990
HP:0000478	Abnormality of the eye	9949	AMMECR1	ORPHA:86818
HP:0000478	Abnormality of the eye	51574	LARP7	OMIM:615071
HP:0000478	Abnormality of the eye	51574	LARP7	ORPHA:319671
HP:0000478	Abnormality of the eye	6418	SET	OMIM:618106
HP:0000478	Abnormality of the eye	50814	NSDHL	ORPHA:251383
HP:0000478	Abnormality of the eye	50814	NSDHL	OMIM:300831
HP:0000478	Abnormality of the eye	2972	BRF1	ORPHA:444072
HP:0000478	Abnormality of the eye	2972	BRF1	OMIM:616202
HP:0000478	Abnormality of the eye	6492	SIM1	ORPHA:171829
HP:0000478	Abnormality of the eye	6492	SIM1	ORPHA:398079
HP:0000478	Abnormality of the eye	51434	ANAPC7	OMIM:619699
HP:0000478	Abnormality of the eye	4998	ORC1	OMIM:224690
HP:0000478	Abnormality of the eye	1009	CDH11	OMIM:211380
HP:0000478	Abnormality of the eye	1009	CDH11	ORPHA:1299
HP:0000478	Abnormality of the eye	7086	TKT	OMIM:617044
HP:0000478	Abnormality of the eye	8802	SUCLG1	ORPHA:17
HP:0000478	Abnormality of the eye	9321	TRIP11	ORPHA:166272
HP:0000478	Abnormality of the eye	11198	SUPT16H	OMIM:619480
HP:0000478	Abnormality of the eye	8567	MADD	OMIM:619004
HP:0000478	Abnormality of the eye	8318	CDC45	OMIM:617063
HP:0000478	Abnormality of the eye	57477	SHROOM4	ORPHA:85288
HP:0000478	Abnormality of the eye	9508	ADAMTS3	OMIM:618154
HP:0000478	Abnormality of the eye	1654	DDX3X	OMIM:300958
HP:0000478	Abnormality of the eye	23096	IQSEC2	OMIM:309530
HP:0000478	Abnormality of the eye	23096	IQSEC2	ORPHA:819
HP:0000478	Abnormality of the eye	23096	IQSEC2	ORPHA:397933
HP:0000478	Abnormality of the eye	3516	RBPJ	ORPHA:974
HP:0000478	Abnormality of the eye	4851	NOTCH1	ORPHA:974
HP:0000478	Abnormality of the eye	57514	ARHGAP31	ORPHA:974
HP:0000478	Abnormality of the eye	285203	EOGT	ORPHA:974
HP:0000478	Abnormality of the eye	54567	DLL4	ORPHA:974
HP:0000478	Abnormality of the eye	6748	SSR4	ORPHA:370927
HP:0000478	Abnormality of the eye	6748	SSR4	OMIM:300934
HP:0000478	Abnormality of the eye	8242	KDM5C	ORPHA:85279
HP:0000478	Abnormality of the eye	8242	KDM5C	OMIM:300534
HP:0000478	Abnormality of the eye	89970	RSPRY1	ORPHA:457395
HP:0000478	Abnormality of the eye	89970	RSPRY1	OMIM:616723
HP:0000478	Abnormality of the eye	10079	ATP9A	OMIM:620242
HP:0000478	Abnormality of the eye	2801	GOLGA2	OMIM:620240
HP:0000478	Abnormality of the eye	1513	CTSK	ORPHA:763
HP:0000478	Abnormality of the eye	8200	GDF5	ORPHA:3250
HP:0000478	Abnormality of the eye	1278	COL1A2	ORPHA:230851
HP:0000478	Abnormality of the eye	2314	FLII	ORPHA:819
HP:0000478	Abnormality of the eye	10522	DEAF1	ORPHA:819
HP:0000478	Abnormality of the eye	429	ASCL1	ORPHA:99803
HP:0000478	Abnormality of the eye	10225	CD96	OMIM:211750
HP:0000478	Abnormality of the eye	10225	CD96	ORPHA:1308
HP:0000478	Abnormality of the eye	56992	KIF15	ORPHA:261323
HP:0000478	Abnormality of the eye	80204	FBXO11	OMIM:618089
HP:0000478	Abnormality of the eye	23325	WASHC4	OMIM:615817
HP:0000478	Abnormality of the eye	6999	TDO2	OMIM:600627
HP:0000478	Abnormality of the eye	11160	ERLIN2	OMIM:611225
HP:0000478	Abnormality of the eye	83879	CDCA7	OMIM:616910
HP:0000478	Abnormality of the eye	51114	ZDHHC9	OMIM:300799
HP:0000478	Abnormality of the eye	116442	RAB39B	ORPHA:2379
HP:0000478	Abnormality of the eye	26053	AUTS2	OMIM:615834
HP:0000478	Abnormality of the eye	26053	AUTS2	ORPHA:352490
HP:0000478	Abnormality of the eye	79753	SNIP1	OMIM:614501
HP:0000478	Abnormality of the eye	1650	DDOST	OMIM:614507
HP:0000478	Abnormality of the eye	440138	ALG11	OMIM:613661
HP:0000478	Abnormality of the eye	440138	ALG11	ORPHA:280071
HP:0000478	Abnormality of the eye	55906	ZC4H2	ORPHA:3454
HP:0000478	Abnormality of the eye	2146	EZH2	OMIM:277590
HP:0000478	Abnormality of the eye	51134	CEP83	OMIM:615862
HP:0000478	Abnormality of the eye	22907	DHX30	OMIM:617804
HP:0000478	Abnormality of the eye	7319	UBE2A	ORPHA:163956
HP:0000478	Abnormality of the eye	2245	FGD1	OMIM:305400
HP:0000478	Abnormality of the eye	2245	FGD1	ORPHA:915
HP:0000478	Abnormality of the eye	124997	WDR81	OMIM:610185
HP:0000478	Abnormality of the eye	124997	WDR81	ORPHA:1766
HP:0000478	Abnormality of the eye	23028	KDM1A	OMIM:616728
HP:0000478	Abnormality of the eye	23028	KDM1A	ORPHA:477993
HP:0000478	Abnormality of the eye	10982	MAPRE2	OMIM:616734
HP:0000478	Abnormality of the eye	767	CA8	OMIM:613227
HP:0000478	Abnormality of the eye	767	CA8	ORPHA:1766
HP:0000478	Abnormality of the eye	84679	SLC9A7	OMIM:301024
HP:0000478	Abnormality of the eye	2239	GPC4	OMIM:301026
HP:0000478	Abnormality of the eye	63035	BCORL1	OMIM:301029
HP:0000478	Abnormality of the eye	6597	SMARCA4	ORPHA:1465
HP:0000478	Abnormality of the eye	6659	SOX4	ORPHA:1465
HP:0000478	Abnormality of the eye	8289	ARID1A	ORPHA:1465
HP:0000478	Abnormality of the eye	8289	ARID1A	OMIM:614607
HP:0000478	Abnormality of the eye	5977	DPF2	ORPHA:1465
HP:0000478	Abnormality of the eye	5977	DPF2	OMIM:618027
HP:0000478	Abnormality of the eye	6601	SMARCC2	ORPHA:1465
HP:0000478	Abnormality of the eye	6602	SMARCD1	ORPHA:1465
HP:0000478	Abnormality of the eye	196528	ARID2	ORPHA:1465
HP:0000478	Abnormality of the eye	6664	SOX11	ORPHA:1465
HP:0000478	Abnormality of the eye	9378	NRXN1	OMIM:614325
HP:0000478	Abnormality of the eye	1000	CDH2	OMIM:618929
HP:0000478	Abnormality of the eye	545	ATR	OMIM:210600
HP:0000478	Abnormality of the eye	10664	CTCF	ORPHA:363611
HP:0000478	Abnormality of the eye	10664	CTCF	OMIM:615502
HP:0000478	Abnormality of the eye	81689	ISCA1	OMIM:617613
HP:0000478	Abnormality of the eye	1861	TOR1A	OMIM:618947
HP:0000478	Abnormality of the eye	8936	WASF1	OMIM:618707
HP:0000478	Abnormality of the eye	23545	ATP6V0A2	OMIM:219200
HP:0000478	Abnormality of the eye	23545	ATP6V0A2	ORPHA:357074
HP:0000478	Abnormality of the eye	122553	TRAPPC6B	OMIM:617862
HP:0000478	Abnormality of the eye	92335	STRADA	OMIM:611087
HP:0000478	Abnormality of the eye	55691	FRMD4A	ORPHA:466688
HP:0000478	Abnormality of the eye	55691	FRMD4A	OMIM:616819
HP:0000478	Abnormality of the eye	4621	MYH3	ORPHA:2990
HP:0000478	Abnormality of the eye	4621	MYH3	OMIM:193700
HP:0000478	Abnormality of the eye	4621	MYH3	ORPHA:2053
HP:0000478	Abnormality of the eye	1146	CHRNG	ORPHA:2990
HP:0000478	Abnormality of the eye	9451	EIF2AK3	ORPHA:1667
HP:0000478	Abnormality of the eye	11141	IL1RAPL1	OMIM:300143
HP:0000478	Abnormality of the eye	4281	MID1	ORPHA:2745
HP:0000478	Abnormality of the eye	8294	H4C9	OMIM:619951
HP:0000478	Abnormality of the eye	51761	ATP8A2	ORPHA:1766
HP:0000478	Abnormality of the eye	23384	SPECC1L	ORPHA:1519
HP:0000478	Abnormality of the eye	64359	NXN	ORPHA:1507
HP:0000478	Abnormality of the eye	4920	ROR2	ORPHA:1507
HP:0000478	Abnormality of the eye	2626	GATA4	ORPHA:251071
HP:0000478	Abnormality of the eye	5566	PRKACA	ORPHA:289
HP:0000478	Abnormality of the eye	5567	PRKACB	ORPHA:289
HP:0000478	Abnormality of the eye	2735	GLI1	ORPHA:289
HP:0000478	Abnormality of the eye	26057	ANKRD17	OMIM:619504
HP:0000478	Abnormality of the eye	56006	SMG9	OMIM:619995
HP:0000478	Abnormality of the eye	29081	METTL5	OMIM:618665
HP:0000478	Abnormality of the eye	8879	SGPL1	OMIM:617575
HP:0000478	Abnormality of the eye	7862	BRPF1	OMIM:617333
HP:0000478	Abnormality of the eye	53335	BCL11A	OMIM:617101
HP:0000478	Abnormality of the eye	6942	TCF20	OMIM:618430
HP:0000478	Abnormality of the eye	2542	SLC37A4	OMIM:619525
HP:0000478	Abnormality of the eye	23314	SATB2	ORPHA:576283
HP:0000478	Abnormality of the eye	23314	SATB2	ORPHA:251019
HP:0000478	Abnormality of the eye	23219	FBXO28	OMIM:619777
HP:0000478	Abnormality of the eye	3930	LBR	OMIM:169400
HP:0000478	Abnormality of the eye	29929	ALG6	ORPHA:79320
HP:0000478	Abnormality of the eye	29929	ALG6	OMIM:603147
HP:0000478	Abnormality of the eye	79087	ALG12	ORPHA:79324
HP:0000478	Abnormality of the eye	1723	DHODH	ORPHA:246
HP:0000478	Abnormality of the eye	8621	CDK13	OMIM:617360
HP:0000478	Abnormality of the eye	51013	EXOSC1	OMIM:619304
HP:0000478	Abnormality of the eye	2775	GNAO1	ORPHA:1934
HP:0000478	Abnormality of the eye	81603	TRIM8	ORPHA:1934
HP:0000478	Abnormality of the eye	150094	SIK1	ORPHA:1934
HP:0000478	Abnormality of the eye	23312	DMXL2	ORPHA:1934
HP:0000478	Abnormality of the eye	11284	PNKP	ORPHA:1934
HP:0000478	Abnormality of the eye	6324	SCN1B	ORPHA:1934
HP:0000478	Abnormality of the eye	6477	SIAH1	OMIM:619314
HP:0000478	Abnormality of the eye	55628	ZNF407	OMIM:619557
HP:0000478	Abnormality of the eye	6833	ABCC8	OMIM:240800
HP:0000478	Abnormality of the eye	2710	GK	OMIM:307030
HP:0000478	Abnormality of the eye	1741	DLG3	OMIM:300850
HP:0000478	Abnormality of the eye	191	AHCY	ORPHA:88618
HP:0000478	Abnormality of the eye	10524	KAT5	OMIM:619103
HP:0000478	Abnormality of the eye	80185	TTI2	ORPHA:391307
HP:0000478	Abnormality of the eye	80185	TTI2	OMIM:615541
HP:0000478	Abnormality of the eye	10847	SRCAP	OMIM:619595
HP:0000478	Abnormality of the eye	10847	SRCAP	ORPHA:2044
HP:0000478	Abnormality of the eye	10847	SRCAP	OMIM:136140
HP:0000478	Abnormality of the eye	5702	PSMC3	OMIM:619354
HP:0000478	Abnormality of the eye	79005	SCNM1	OMIM:620107
HP:0000478	Abnormality of the eye	374354	NHLRC2	OMIM:618278
HP:0000478	Abnormality of the eye	22995	CEP152	OMIM:613823
HP:0000478	Abnormality of the eye	55835	CENPJ	OMIM:608393
HP:0000478	Abnormality of the eye	11011	TLK2	OMIM:618050
HP:0000478	Abnormality of the eye	27161	AGO2	OMIM:619149
HP:0000478	Abnormality of the eye	3480	IGF1R	OMIM:270450
HP:0000478	Abnormality of the eye	10274	STAG1	ORPHA:502434
HP:0000478	Abnormality of the eye	501	ALDH7A1	OMIM:266100
HP:0000478	Abnormality of the eye	10015	PDCD6IP	OMIM:620047
HP:0000478	Abnormality of the eye	2615	LRRC32	OMIM:619074
HP:0000478	Abnormality of the eye	1727	CYB5R3	OMIM:250800
HP:0000478	Abnormality of the eye	1857	DVL3	ORPHA:3107
HP:0000478	Abnormality of the eye	7474	WNT5A	ORPHA:3107
HP:0000478	Abnormality of the eye	1855	DVL1	ORPHA:3107
HP:0000478	Abnormality of the eye	2535	FZD2	ORPHA:3107
HP:0000478	Abnormality of the eye	78989	COLEC11	OMIM:265050
HP:0000478	Abnormality of the eye	51244	CCDC174	OMIM:616816
HP:0000478	Abnormality of the eye	51053	GMNN	OMIM:616835
HP:0000478	Abnormality of the eye	51621	KLF13	OMIM:612001
HP:0000478	Abnormality of the eye	55784	MCTP2	ORPHA:1596
HP:0000478	Abnormality of the eye	26224	FBXL3	OMIM:606220
HP:0000478	Abnormality of the eye	4297	KMT2A	OMIM:605130
HP:0000478	Abnormality of the eye	11253	MAN1B1	OMIM:614202
HP:0000478	Abnormality of the eye	27315	PGAP2	OMIM:614207
HP:0000478	Abnormality of the eye	3209	HOXA13	ORPHA:2438
HP:0000478	Abnormality of the eye	23395	LARS2	OMIM:615300
HP:0000478	Abnormality of the eye	3835	KIF22	ORPHA:93360
HP:0000478	Abnormality of the eye	6938	TCF12	OMIM:615314
HP:0000478	Abnormality of the eye	23630	KCNE5	ORPHA:86818
HP:0000478	Abnormality of the eye	2182	ACSL4	ORPHA:86818
HP:0000478	Abnormality of the eye	9320	TRIP12	OMIM:617752
HP:0000478	Abnormality of the eye	5430	POLR2A	OMIM:618603
HP:0000478	Abnormality of the eye	23592	LEMD3	ORPHA:1306
HP:0000478	Abnormality of the eye	6913	TBX15	ORPHA:93333
HP:0000478	Abnormality of the eye	9130	FAM50A	OMIM:300261
HP:0000478	Abnormality of the eye	3767	KCNJ11	ORPHA:552
HP:0000478	Abnormality of the eye	3767	KCNJ11	ORPHA:99885
HP:0000478	Abnormality of the eye	8462	KLF11	ORPHA:552
HP:0000478	Abnormality of the eye	2645	GCK	ORPHA:552
HP:0000478	Abnormality of the eye	2645	GCK	ORPHA:99885
HP:0000478	Abnormality of the eye	26060	APPL1	ORPHA:552
HP:0000478	Abnormality of the eye	640	BLK	ORPHA:552
HP:0000478	Abnormality of the eye	1056	CEL	ORPHA:552
HP:0000478	Abnormality of the eye	4760	NEUROD1	ORPHA:552
HP:0000478	Abnormality of the eye	3651	PDX1	ORPHA:552
HP:0000478	Abnormality of the eye	3651	PDX1	ORPHA:99885
HP:0000478	Abnormality of the eye	5078	PAX4	ORPHA:552
HP:0000478	Abnormality of the eye	3172	HNF4A	ORPHA:552
HP:0000478	Abnormality of the eye	6927	HNF1A	ORPHA:552
HP:0000478	Abnormality of the eye	3630	INS	ORPHA:552
HP:0000478	Abnormality of the eye	3630	INS	ORPHA:99885
HP:0000478	Abnormality of the eye	3043	HBB	ORPHA:251380
HP:0000478	Abnormality of the eye	3043	HBB	OMIM:603903
HP:0000478	Abnormality of the eye	10661	KLF1	ORPHA:251380
HP:0000478	Abnormality of the eye	3047	HBG1	ORPHA:251380
HP:0000478	Abnormality of the eye	3048	HBG2	ORPHA:251380
HP:0000478	Abnormality of the eye	1019	CDK4	ORPHA:618
HP:0000478	Abnormality of the eye	4255	MGMT	ORPHA:618
HP:0000478	Abnormality of the eye	54386	TERF2IP	ORPHA:618
HP:0000478	Abnormality of the eye	65057	ACD	ORPHA:618
HP:0000478	Abnormality of the eye	1029	CDKN2A	ORPHA:618
HP:0000478	Abnormality of the eye	25913	POT1	ORPHA:618
HP:0000478	Abnormality of the eye	1030	CDKN2B	ORPHA:618
HP:0000478	Abnormality of the eye	51128	SAR1B	ORPHA:71
HP:0000478	Abnormality of the eye	3643	INSR	ORPHA:769
HP:0000478	Abnormality of the eye	641	BLM	ORPHA:125
HP:0000478	Abnormality of the eye	375056	MIA3	OMIM:619269
HP:0000478	Abnormality of the eye	9907	AP5Z1	ORPHA:306511
HP:0000478	Abnormality of the eye	9907	AP5Z1	OMIM:613647
HP:0000478	Abnormality of the eye	2294	FOXF1	OMIM:265380
HP:0000478	Abnormality of the eye	91801	ALKBH8	OMIM:618504
HP:0000478	Abnormality of the eye	613	BCR	ORPHA:261330
HP:0000478	Abnormality of the eye	1399	CRKL	ORPHA:261330
HP:0000478	Abnormality of the eye	55904	KMT2E	OMIM:618512
HP:0000478	Abnormality of the eye	129563	DIS3L2	ORPHA:2849
HP:0000478	Abnormality of the eye	28960	DCPS	OMIM:616459
HP:0000478	Abnormality of the eye	28958	COA3	OMIM:619058
HP:0000478	Abnormality of the eye	2892	GRIA3	OMIM:300699
HP:0000478	Abnormality of the eye	2892	GRIA3	ORPHA:364028
HP:0000478	Abnormality of the eye	1351	COX8A	OMIM:619059
HP:0000478	Abnormality of the eye	9739	SETD1A	OMIM:619056
HP:0000478	Abnormality of the eye	9377	COX5A	OMIM:619064
HP:0000478	Abnormality of the eye	4212	MEIS2	OMIM:600987
HP:0000478	Abnormality of the eye	4212	MEIS2	ORPHA:261190
HP:0000478	Abnormality of the eye	4953	ODC1	OMIM:619075
HP:0000478	Abnormality of the eye	4953	ODC1	ORPHA:544488
HP:0000478	Abnormality of the eye	5063	PAK3	OMIM:300558
HP:0000478	Abnormality of the eye	4803	NGF	ORPHA:64752
HP:0000478	Abnormality of the eye	79759	ZNF668	OMIM:620194
HP:0000478	Abnormality of the eye	51611	DPH5	OMIM:620070
HP:0000478	Abnormality of the eye	79228	THOC6	ORPHA:363444
HP:0000478	Abnormality of the eye	79228	THOC6	OMIM:613680
HP:0000478	Abnormality of the eye	7358	UGDH	OMIM:618792
HP:0000478	Abnormality of the eye	81887	LAS1L	ORPHA:3459
HP:0000478	Abnormality of the eye	4285	MIPEP	OMIM:617228
HP:0000478	Abnormality of the eye	5591	PRKDC	OMIM:615966
HP:0000478	Abnormality of the eye	6901	TAFAZZIN	OMIM:302060
HP:0000478	Abnormality of the eye	388015	RTL1	ORPHA:96334
HP:0000478	Abnormality of the eye	8788	DLK1	ORPHA:96334
HP:0000478	Abnormality of the eye	55384	MEG3	ORPHA:96334
HP:0000478	Abnormality of the eye	79989	IFT56	OMIM:619534
HP:0000478	Abnormality of the eye	79791	FBXO31	OMIM:615979
HP:0000478	Abnormality of the eye	3720	JARID2	OMIM:620098
HP:0000478	Abnormality of the eye	27238	GPKOW	ORPHA:2570
HP:0000478	Abnormality of the eye	54517	PUS7	OMIM:618342
HP:0000478	Abnormality of the eye	90161	HS6ST2	OMIM:301025
HP:0000478	Abnormality of the eye	1725	DHPS	OMIM:618480
HP:0000478	Abnormality of the eye	23221	RHOBTB2	OMIM:618004
HP:0000478	Abnormality of the eye	6774	STAT3	ORPHA:2314
HP:0000478	Abnormality of the eye	10943	MSL3	OMIM:301032
HP:0000478	Abnormality of the eye	8091	HMGA2	ORPHA:94063
HP:0000478	Abnormality of the eye	2186	BPTF	ORPHA:529962
HP:0000478	Abnormality of the eye	25	ABL1	OMIM:617602
HP:0000478	Abnormality of the eye	5058	PAK1	OMIM:618158
HP:0000478	Abnormality of the eye	57038	RARS2	OMIM:611523
HP:0000478	Abnormality of the eye	2799	GNS	OMIM:252940
HP:0000478	Abnormality of the eye	2193	FARSA	OMIM:619013
HP:0000478	Abnormality of the eye	1984	EIF5A	OMIM:619376
HP:0000478	Abnormality of the eye	178	AGL	OMIM:232400
HP:0000478	Abnormality of the eye	2036	EPB41L1	OMIM:614257
HP:0000478	Abnormality of the eye	4858	NOVA2	OMIM:618859
HP:0000478	Abnormality of the eye	25886	POC1A	OMIM:614813
HP:0000478	Abnormality of the eye	55343	SLC35C1	ORPHA:99843
HP:0000478	Abnormality of the eye	3572	IL6ST	OMIM:618523
HP:0000478	Abnormality of the eye	242	ALOX12B	ORPHA:79394
HP:0000478	Abnormality of the eye	204219	CERS3	ORPHA:79394
HP:0000478	Abnormality of the eye	26154	ABCA12	ORPHA:79394
HP:0000478	Abnormality of the eye	285848	PNPLA1	ORPHA:79394
HP:0000478	Abnormality of the eye	59344	ALOXE3	ORPHA:79394
HP:0000478	Abnormality of the eye	348938	NIPAL4	ORPHA:79394
HP:0000478	Abnormality of the eye	7051	TGM1	ORPHA:79394
HP:0000478	Abnormality of the eye	9244	CRLF1	OMIM:272430
HP:0000478	Abnormality of the eye	3064	HTT	ORPHA:399
HP:0000478	Abnormality of the eye	3064	HTT	OMIM:143100
HP:0000478	Abnormality of the eye	6515	SLC2A3	ORPHA:399
HP:0000478	Abnormality of the eye	3763	KCNJ6	ORPHA:435628
HP:0000478	Abnormality of the eye	5648	MASP1	OMIM:257920
HP:0000478	Abnormality of the eye	114327	EFHC1	ORPHA:307
HP:0000478	Abnormality of the eye	114327	EFHC1	ORPHA:1941
HP:0000478	Abnormality of the eye	3786	KCNQ3	ORPHA:307
HP:0000478	Abnormality of the eye	8659	ALDH4A1	ORPHA:79101
HP:0000478	Abnormality of the eye	6571	SLC18A2	ORPHA:352649
HP:0000478	Abnormality of the eye	5521	PPP2R2B	OMIM:604326
HP:0000478	Abnormality of the eye	11212	PLPBP	ORPHA:3006
HP:0000478	Abnormality of the eye	7915	ALDH5A1	OMIM:271980
HP:0000478	Abnormality of the eye	23476	BRD4	ORPHA:199
HP:0000478	Abnormality of the eye	9126	SMC3	ORPHA:199
HP:0000478	Abnormality of the eye	25836	NIPBL	ORPHA:199
HP:0000478	Abnormality of the eye	55869	HDAC8	ORPHA:199
HP:0000478	Abnormality of the eye	5885	RAD21	ORPHA:199
HP:0000478	Abnormality of the eye	6868	ADAM17	OMIM:614328
HP:0000478	Abnormality of the eye	6868	ADAM17	ORPHA:294023
HP:0000478	Abnormality of the eye	7454	WAS	ORPHA:906
HP:0000478	Abnormality of the eye	7456	WIPF1	ORPHA:906
HP:0000478	Abnormality of the eye	1736	DKC1	OMIM:305000
HP:0000478	Abnormality of the eye	1736	DKC1	ORPHA:1775
HP:0000478	Abnormality of the eye	10095	ARPC1B	OMIM:617718
HP:0000478	Abnormality of the eye	10804	GJB6	OMIM:129500
HP:0000478	Abnormality of the eye	79650	USB1	OMIM:604173
HP:0000478	Abnormality of the eye	79650	USB1	ORPHA:1775
HP:0000478	Abnormality of the eye	55630	SLC39A4	ORPHA:37
HP:0000478	Abnormality of the eye	9496	TBX4	ORPHA:261279
HP:0000478	Abnormality of the eye	80169	CTC1	ORPHA:1775
HP:0000478	Abnormality of the eye	26277	TINF2	ORPHA:1775
HP:0000478	Abnormality of the eye	55651	NHP2	ORPHA:1775
HP:0000478	Abnormality of the eye	55135	WRAP53	ORPHA:1775
HP:0000478	Abnormality of the eye	51750	RTEL1	ORPHA:1775
HP:0000478	Abnormality of the eye	4869	NPM1	ORPHA:1775
HP:0000478	Abnormality of the eye	7012	TERC	ORPHA:1775
HP:0000478	Abnormality of the eye	55505	NOP10	ORPHA:1775
HP:0000478	Abnormality of the eye	5073	PARN	ORPHA:1775
HP:0000478	Abnormality of the eye	7298	TYMS	ORPHA:1775
HP:0000478	Abnormality of the eye	5333	PLCD1	ORPHA:2387
HP:0000478	Abnormality of the eye	10758	TRAF3IP2	OMIM:615527
HP:0000478	Abnormality of the eye	1474	CST6	OMIM:618535
HP:0000478	Abnormality of the eye	6307	MSMO1	OMIM:616834
HP:0000478	Abnormality of the eye	1956	EGFR	ORPHA:294023
HP:0000478	Abnormality of the eye	7507	XPA	ORPHA:910
HP:0000478	Abnormality of the eye	2071	ERCC3	ORPHA:910
HP:0000478	Abnormality of the eye	7508	XPC	ORPHA:910
HP:0000478	Abnormality of the eye	1643	DDB2	ORPHA:910
HP:0000478	Abnormality of the eye	2072	ERCC4	ORPHA:910
HP:0000478	Abnormality of the eye	147372	CCBE1	ORPHA:2136
HP:0000478	Abnormality of the eye	147372	CCBE1	OMIM:235510
HP:0000478	Abnormality of the eye	90	ACVR1	ORPHA:337
HP:0000478	Abnormality of the eye	5116	PCNT	ORPHA:808
HP:0000478	Abnormality of the eye	5932	RBBP8	ORPHA:808
HP:0000478	Abnormality of the eye	79902	NUP85	ORPHA:808
HP:0000478	Abnormality of the eye	84126	ATRIP	ORPHA:808
HP:0000478	Abnormality of the eye	10293	TRAIP	ORPHA:808
HP:0000478	Abnormality of the eye	80324	PUS1	ORPHA:2598
HP:0000478	Abnormality of the eye	23586	RIGI	OMIM:616298
HP:0000478	Abnormality of the eye	2530	FUT8	OMIM:618005
HP:0000478	Abnormality of the eye	6499	SKIC2	ORPHA:84064
HP:0000478	Abnormality of the eye	4126	MANBA	OMIM:248510
HP:0000478	Abnormality of the eye	2321	FLT1	ORPHA:275555
HP:0000478	Abnormality of the eye	219736	STOX1	ORPHA:275555
HP:0000478	Abnormality of the eye	10699	CORIN	ORPHA:275555
HP:0000478	Abnormality of the eye	2103	ESRRB	OMIM:608565
HP:0000478	Abnormality of the eye	6304	SATB1	OMIM:619229
HP:0000478	Abnormality of the eye	56172	ANKH	ORPHA:1522
HP:0000478	Abnormality of the eye	535	ATP6V0A1	OMIM:619970
HP:0000478	Abnormality of the eye	9922	IQSEC1	OMIM:618687
HP:0000478	Abnormality of the eye	84705	GTPBP3	OMIM:616198
HP:0000478	Abnormality of the eye	84705	GTPBP3	ORPHA:444013
HP:0000478	Abnormality of the eye	126326	GIPC3	OMIM:601869
HP:0000478	Abnormality of the eye	63908	NAPB	OMIM:620033
HP:0000478	Abnormality of the eye	388551	CEACAM16	OMIM:614614
HP:0000478	Abnormality of the eye	643226	GRXCR2	OMIM:615837
HP:0000478	Abnormality of the eye	10229	COQ7	OMIM:616733
HP:0000478	Abnormality of the eye	56270	WDR45B	OMIM:617977
HP:0000478	Abnormality of the eye	3920	LAMP2	OMIM:300257
HP:0000478	Abnormality of the eye	119559	SFXN4	OMIM:615578
HP:0000478	Abnormality of the eye	51294	PCDH12	OMIM:251280
HP:0000478	Abnormality of the eye	406932	MIR140	OMIM:618618
HP:0000478	Abnormality of the eye	23141	ANKLE2	OMIM:616681
HP:0000478	Abnormality of the eye	101060691	NUTM2B-AS1	OMIM:618637
HP:0000478	Abnormality of the eye	7054	TH	OMIM:605407
HP:0000478	Abnormality of the eye	7054	TH	ORPHA:101150
HP:0000478	Abnormality of the eye	129685	TAF8	OMIM:619972
HP:0000478	Abnormality of the eye	199857	ALG14	OMIM:616227
HP:0000478	Abnormality of the eye	199857	ALG14	ORPHA:353327
HP:0000478	Abnormality of the eye	9581	PREPL	OMIM:616224
HP:0000478	Abnormality of the eye	9581	PREPL	ORPHA:163690
HP:0000478	Abnormality of the eye	311	ANXA11	OMIM:619733
HP:0000478	Abnormality of the eye	55623	THUMPD1	OMIM:619989
HP:0000478	Abnormality of the eye	8642	DCHS1	OMIM:601390
HP:0000478	Abnormality of the eye	57680	CHD8	OMIM:615032
HP:0000478	Abnormality of the eye	4626	MYH8	OMIM:158300
HP:0000478	Abnormality of the eye	4626	MYH8	ORPHA:3377
HP:0000478	Abnormality of the eye	6578	SLCO2A1	OMIM:167100
HP:0000478	Abnormality of the eye	6578	SLCO2A1	ORPHA:2796
HP:0000478	Abnormality of the eye	10262	SF3B4	ORPHA:245
HP:0000478	Abnormality of the eye	9427	ECEL1	OMIM:615065
HP:0000478	Abnormality of the eye	3658	IREB2	OMIM:618451
HP:0000478	Abnormality of the eye	2737	GLI3	ORPHA:672
HP:0000478	Abnormality of the eye	55217	TMLHE	OMIM:300872
HP:0000478	Abnormality of the eye	5898	RALA	OMIM:619311
HP:0000478	Abnormality of the eye	79912	PYROXD1	OMIM:617258
HP:0000478	Abnormality of the eye	9256	TSPOAP1	ORPHA:101150
HP:0000478	Abnormality of the eye	3714	JAG2	OMIM:619566
HP:0000478	Abnormality of the eye	79048	SECISBP2	ORPHA:171706
HP:0000478	Abnormality of the eye	5805	PTS	ORPHA:13
HP:0000478	Abnormality of the eye	2064	ERBB2	OMIM:619465
HP:0000478	Abnormality of the eye	7317	UBA1	OMIM:301830
HP:0000478	Abnormality of the eye	10771	ZMYND11	OMIM:616083
HP:0000478	Abnormality of the eye	3248	HPGD	OMIM:259100
HP:0000478	Abnormality of the eye	3248	HPGD	ORPHA:2796
HP:0000478	Abnormality of the eye	1457	CSNK2A1	OMIM:617062
HP:0000478	Abnormality of the eye	226	ALDOA	OMIM:611881
HP:0000478	Abnormality of the eye	2733	GLE1	OMIM:611890
HP:0000478	Abnormality of the eye	6535	SLC6A8	OMIM:300352
HP:0000478	Abnormality of the eye	6535	SLC6A8	ORPHA:52503
HP:0000478	Abnormality of the eye	8506	CNTNAP1	OMIM:618186
HP:0000478	Abnormality of the eye	57176	VARS2	OMIM:615917
HP:0000478	Abnormality of the eye	23118	TAB2	ORPHA:228410
HP:0000478	Abnormality of the eye	1073	CFL2	ORPHA:171436
HP:0000478	Abnormality of the eye	55148	UBR7	OMIM:619189
HP:0000478	Abnormality of the eye	1906	EDN1	ORPHA:137888
HP:0000478	Abnormality of the eye	5332	PLCB4	ORPHA:137888
HP:0000478	Abnormality of the eye	5332	PLCB4	OMIM:614669
HP:0000478	Abnormality of the eye	2773	GNAI3	ORPHA:137888
HP:0000478	Abnormality of the eye	113278	SLC52A3	OMIM:211530
HP:0000478	Abnormality of the eye	113278	SLC52A3	OMIM:211500
HP:0000478	Abnormality of the eye	1267	CNP	OMIM:619071
HP:0000478	Abnormality of the eye	149371	EXOC8	OMIM:619076
HP:0000478	Abnormality of the eye	1785	DNM2	OMIM:160150
HP:0000478	Abnormality of the eye	1785	DNM2	ORPHA:169189
HP:0000478	Abnormality of the eye	64419	MTMR14	OMIM:160150
HP:0000478	Abnormality of the eye	64419	MTMR14	ORPHA:169189
HP:0000478	Abnormality of the eye	84665	MYPN	ORPHA:171439
HP:0000478	Abnormality of the eye	390594	KBTBD13	ORPHA:171439
HP:0000478	Abnormality of the eye	84317	CCDC115	OMIM:616828
HP:0000478	Abnormality of the eye	2273	FHL1	ORPHA:98863
HP:0000478	Abnormality of the eye	2010	EMD	ORPHA:98863
HP:0000478	Abnormality of the eye	23534	TNPO3	OMIM:608423
HP:0000478	Abnormality of the eye	79188	TMEM43	ORPHA:98853
HP:0000478	Abnormality of the eye	23224	SYNE2	ORPHA:98853
HP:0000478	Abnormality of the eye	4618	MYF6	ORPHA:169189
HP:0000478	Abnormality of the eye	10616	RBCK1	OMIM:615895
HP:0000478	Abnormality of the eye	79633	FAT4	OMIM:615546
HP:0000478	Abnormality of the eye	84617	TUBB6	OMIM:617732
HP:0000478	Abnormality of the eye	54870	QRICH1	OMIM:617982
HP:0000478	Abnormality of the eye	114928	GPRASP2	OMIM:301018
HP:0000478	Abnormality of the eye	6519	SLC3A1	ORPHA:163690
HP:0000478	Abnormality of the eye	1537	CYC1	OMIM:615453
HP:0000478	Abnormality of the eye	84700	MYO18B	OMIM:616549
HP:0000478	Abnormality of the eye	10736	SIX2	ORPHA:488437
HP:0000478	Abnormality of the eye	58499	ZNF462	OMIM:618619
HP:0000478	Abnormality of the eye	695	BTK	OMIM:300755
HP:0000478	Abnormality of the eye	695	BTK	ORPHA:47
HP:0000478	Abnormality of the eye	695	BTK	OMIM:307200
HP:0000478	Abnormality of the eye	930	CD19	OMIM:613493
HP:0000478	Abnormality of the eye	930	CD19	OMIM:240500
HP:0000478	Abnormality of the eye	987	LRBA	OMIM:614700
HP:0000478	Abnormality of the eye	3507	IGHM	OMIM:601495
HP:0000478	Abnormality of the eye	3507	IGHM	ORPHA:33110
HP:0000478	Abnormality of the eye	8676	STX11	OMIM:603552
HP:0000478	Abnormality of the eye	5896	RAG1	OMIM:601457
HP:0000478	Abnormality of the eye	5897	RAG2	OMIM:601457
HP:0000478	Abnormality of the eye	974	CD79B	OMIM:612692
HP:0000478	Abnormality of the eye	974	CD79B	ORPHA:33110
HP:0000478	Abnormality of the eye	29851	ICOS	OMIM:607594
HP:0000478	Abnormality of the eye	29851	ICOS	OMIM:240500
HP:0000478	Abnormality of the eye	23495	TNFRSF13B	OMIM:240500
HP:0000478	Abnormality of the eye	115650	TNFRSF13C	OMIM:240500
HP:0000478	Abnormality of the eye	1380	CR2	OMIM:240500
HP:0000478	Abnormality of the eye	5692	PSMB4	OMIM:617591
HP:0000478	Abnormality of the eye	5698	PSMB9	OMIM:617591
HP:0000478	Abnormality of the eye	7037	TFRC	OMIM:616740
HP:0000478	Abnormality of the eye	54809	SAMD9	OMIM:610455
HP:0000478	Abnormality of the eye	6929	TCF3	ORPHA:33110
HP:0000478	Abnormality of the eye	973	CD79A	ORPHA:33110
HP:0000478	Abnormality of the eye	3543	IGLL1	ORPHA:33110
HP:0000478	Abnormality of the eye	29760	BLNK	ORPHA:33110
HP:0000478	Abnormality of the eye	56262	LRRC8A	ORPHA:33110
HP:0000478	Abnormality of the eye	25970	SH2B1	ORPHA:261222
HP:0000478	Abnormality of the eye	55012	PPP2R3C	OMIM:618419
HP:0000478	Abnormality of the eye	491	ATP2B2	OMIM:601386
HP:0000478	Abnormality of the eye	6134	RPL10	ORPHA:459070
HP:0000478	Abnormality of the eye	6134	RPL10	OMIM:300998
HP:0000478	Abnormality of the eye	25981	DNAH1	ORPHA:244
HP:0000478	Abnormality of the eye	115948	ODAD3	ORPHA:244
HP:0000478	Abnormality of the eye	54768	HYDIN	ORPHA:244
HP:0000478	Abnormality of the eye	352909	DNAAF3	ORPHA:244
HP:0000478	Abnormality of the eye	27148	STK36	ORPHA:244
HP:0000478	Abnormality of the eye	51314	NME8	ORPHA:244
HP:0000478	Abnormality of the eye	92749	DRC1	ORPHA:244
HP:0000478	Abnormality of the eye	54970	TTC12	ORPHA:244
HP:0000478	Abnormality of the eye	152110	NEK10	ORPHA:244
HP:0000478	Abnormality of the eye	2302	FOXJ1	ORPHA:244
HP:0000478	Abnormality of the eye	221421	RSPH9	ORPHA:244
HP:0000478	Abnormality of the eye	85478	CCDC65	ORPHA:244
HP:0000478	Abnormality of the eye	55036	CCDC40	ORPHA:244
HP:0000478	Abnormality of the eye	51364	ZMYND10	ORPHA:244
HP:0000478	Abnormality of the eye	64446	DNAI2	ORPHA:244
HP:0000478	Abnormality of the eye	6674	SPAG1	ORPHA:244
HP:0000478	Abnormality of the eye	83544	DNAL1	ORPHA:244
HP:0000478	Abnormality of the eye	89765	RSPH1	ORPHA:244
HP:0000478	Abnormality of the eye	83538	ODAD4	ORPHA:244
HP:0000478	Abnormality of the eye	200373	CFAP221	ORPHA:244
HP:0000478	Abnormality of the eye	374407	DNAJB13	ORPHA:244
HP:0000478	Abnormality of the eye	55172	DNAAF2	ORPHA:244
HP:0000478	Abnormality of the eye	161582	DNAAF4	ORPHA:244
HP:0000478	Abnormality of the eye	2622	GAS8	ORPHA:244
HP:0000478	Abnormality of the eye	23639	DNAAF11	ORPHA:244
HP:0000478	Abnormality of the eye	345895	RSPH4A	ORPHA:244
HP:0000478	Abnormality of the eye	54919	DNAAF5	ORPHA:244
HP:0000478	Abnormality of the eye	388389	CCDC103	ORPHA:244
HP:0000478	Abnormality of the eye	93233	ODAD1	ORPHA:244
HP:0000478	Abnormality of the eye	55130	ODAD2	ORPHA:244
HP:0000478	Abnormality of the eye	1767	DNAH5	ORPHA:244
HP:0000478	Abnormality of the eye	83861	RSPH3	ORPHA:244
HP:0000478	Abnormality of the eye	345643	MCIDAS	ORPHA:244
HP:0000478	Abnormality of the eye	56683	CFAP298	ORPHA:244
HP:0000478	Abnormality of the eye	79925	SPEF2	ORPHA:244
HP:0000478	Abnormality of the eye	10309	CCNO	ORPHA:244
HP:0000478	Abnormality of the eye	115399	LRRC56	ORPHA:244
HP:0000478	Abnormality of the eye	139212	DNAAF6	ORPHA:244
HP:0000478	Abnormality of the eye	123872	DNAAF1	ORPHA:244
HP:0000478	Abnormality of the eye	85016	CFAP300	ORPHA:244
HP:0000478	Abnormality of the eye	339829	CCDC39	ORPHA:244
HP:0000478	Abnormality of the eye	8701	DNAH11	ORPHA:244
HP:0000478	Abnormality of the eye	1770	DNAH9	ORPHA:244
HP:0000478	Abnormality of the eye	246176	GAS2L2	ORPHA:244
HP:0000478	Abnormality of the eye	253827	MSRB3	OMIM:613718
HP:0000478	Abnormality of the eye	10577	NPC2	OMIM:607625
HP:0000478	Abnormality of the eye	4864	NPC1	OMIM:257220
HP:0000478	Abnormality of the eye	5610	EIF2AK2	OMIM:619687
HP:0000478	Abnormality of the eye	8309	ACOX2	OMIM:617308
HP:0000478	Abnormality of the eye	1639	DCTN1	OMIM:168605
HP:0000478	Abnormality of the eye	440193	CCDC88C	ORPHA:423275
HP:0000478	Abnormality of the eye	220074	LRTOMT	OMIM:611451
HP:0000478	Abnormality of the eye	7143	TNR	OMIM:619653
HP:0000478	Abnormality of the eye	25793	FBXO7	ORPHA:171695
HP:0000478	Abnormality of the eye	25793	FBXO7	OMIM:260300
HP:0000478	Abnormality of the eye	6342	SCP2	OMIM:613724
HP:0000478	Abnormality of the eye	114803	MYSM1	ORPHA:508542
HP:0000478	Abnormality of the eye	23250	ATP11A	OMIM:619851
HP:0000478	Abnormality of the eye	130589	GALM	OMIM:618881
HP:0000478	Abnormality of the eye	130589	GALM	ORPHA:570422
HP:0000478	Abnormality of the eye	8726	EED	OMIM:617561
HP:0000478	Abnormality of the eye	54968	TMEM70	OMIM:614052
HP:0000478	Abnormality of the eye	10716	TBR1	ORPHA:1617
HP:0000478	Abnormality of the eye	2936	GSR	OMIM:618660
HP:0000478	Abnormality of the eye	2592	GALT	OMIM:230400
HP:0000478	Abnormality of the eye	2592	GALT	ORPHA:79239
HP:0000478	Abnormality of the eye	116115	ZNF526	OMIM:619877
HP:0000478	Abnormality of the eye	229	ALDOB	ORPHA:469
HP:0000478	Abnormality of the eye	5741	PTH	OMIM:146200
HP:0000478	Abnormality of the eye	4052	LTBP1	ORPHA:90349
HP:0000478	Abnormality of the eye	30008	EFEMP2	ORPHA:90349
HP:0000478	Abnormality of the eye	23676	SMPX	OMIM:301075
HP:0000478	Abnormality of the eye	51422	PRKAG2	OMIM:261740
HP:0000478	Abnormality of the eye	2250	FGF5	OMIM:190330
HP:0000478	Abnormality of the eye	1760	DMPK	OMIM:160900
HP:0000478	Abnormality of the eye	1760	DMPK	ORPHA:589821
HP:0000478	Abnormality of the eye	147409	DSG4	ORPHA:573
HP:0000478	Abnormality of the eye	3892	KRT86	ORPHA:573
HP:0000478	Abnormality of the eye	3889	KRT83	ORPHA:573
HP:0000478	Abnormality of the eye	3887	KRT81	ORPHA:573
HP:0000478	Abnormality of the eye	63925	ZNF335	OMIM:615095
HP:0000478	Abnormality of the eye	1412	CRYBA2	OMIM:115900
HP:0000478	Abnormality of the eye	8720	MBTPS1	OMIM:618392
HP:0000478	Abnormality of the eye	1315	COPB1	OMIM:619255
HP:0000478	Abnormality of the eye	5557	PRIM1	OMIM:620005
HP:0000478	Abnormality of the eye	9987	HNRNPDL	OMIM:609115
HP:0000478	Abnormality of the eye	83700	JAM3	OMIM:613730
HP:0000478	Abnormality of the eye	9442	MED27	OMIM:619286
HP:0000478	Abnormality of the eye	30061	SLC40A1	OMIM:606069
HP:0000478	Abnormality of the eye	55107	ANO1	OMIM:620045
HP:0000478	Abnormality of the eye	23424	TDRD7	OMIM:613887
HP:0000478	Abnormality of the eye	3782	KCNN3	ORPHA:3473
HP:0000478	Abnormality of the eye	374393	FAM111B	OMIM:615704
HP:0000478	Abnormality of the eye	1174	AP1S1	OMIM:609313
HP:0000478	Abnormality of the eye	55719	SLF2	OMIM:620184
HP:0000478	Abnormality of the eye	10165	SLC25A13	ORPHA:247598
HP:0000478	Abnormality of the eye	3178	HNRNPA1	ORPHA:52430
HP:0000478	Abnormality of the eye	3181	HNRNPA2B1	ORPHA:52430
HP:0000478	Abnormality of the eye	2584	GALK1	OMIM:230200
HP:0000478	Abnormality of the eye	2584	GALK1	ORPHA:79237
HP:0000478	Abnormality of the eye	3313	HSPA9	OMIM:616854
HP:0000478	Abnormality of the eye	10651	MTX2	ORPHA:90153
HP:0000478	Abnormality of the eye	8671	SLC4A4	OMIM:604278
HP:0000478	Abnormality of the eye	7283	TUBG1	OMIM:615412
HP:0000478	Abnormality of the eye	5745	PTH1R	ORPHA:50945
HP:0000478	Abnormality of the eye	8985	PLOD3	OMIM:612394
HP:0000478	Abnormality of the eye	175	AGA	OMIM:208400
HP:0000478	Abnormality of the eye	139285	AMER1	ORPHA:2780
HP:0000478	Abnormality of the eye	8092	ALX1	ORPHA:306542
HP:0000478	Abnormality of the eye	3704	ITPA	OMIM:616647
HP:0000478	Abnormality of the eye	28957	MRPS28	OMIM:618958
HP:0000478	Abnormality of the eye	617	BCS1L	OMIM:124000
HP:0000478	Abnormality of the eye	1376	CPT2	OMIM:608836
HP:0000478	Abnormality of the eye	1417	CRYBB3	OMIM:609741
HP:0000478	Abnormality of the eye	23094	SIPA1L3	OMIM:616851
HP:0000478	Abnormality of the eye	23511	NUP188	OMIM:618804
HP:0000478	Abnormality of the eye	20	ABCA2	OMIM:618808
HP:0000478	Abnormality of the eye	84668	HYCC1	OMIM:610532
HP:0000478	Abnormality of the eye	84668	HYCC1	ORPHA:85163
HP:0000478	Abnormality of the eye	79813	EHMT1	ORPHA:261652
HP:0000478	Abnormality of the eye	58508	KMT2C	ORPHA:261652
HP:0000478	Abnormality of the eye	953	ENTPD1	OMIM:615683
HP:0000478	Abnormality of the eye	2651	GCNT2	OMIM:116700
HP:0000478	Abnormality of the eye	3739	KCNA4	OMIM:618284
HP:0000478	Abnormality of the eye	5286	PIK3C2A	OMIM:618440
HP:0000478	Abnormality of the eye	5286	PIK3C2A	ORPHA:557003
HP:0000478	Abnormality of the eye	2108	ETFA	OMIM:231680
HP:0000478	Abnormality of the eye	2109	ETFB	OMIM:231680
HP:0000478	Abnormality of the eye	2110	ETFDH	OMIM:231680
HP:0000478	Abnormality of the eye	9871	SEC24D	ORPHA:2050
HP:0000478	Abnormality of the eye	9871	SEC24D	OMIM:616294
HP:0000478	Abnormality of the eye	5034	P4HB	ORPHA:2050
HP:0000478	Abnormality of the eye	5034	P4HB	OMIM:112240
HP:0000478	Abnormality of the eye	28981	IFT81	OMIM:617895
HP:0000478	Abnormality of the eye	7068	THRB	OMIM:274300
HP:0000478	Abnormality of the eye	6662	SOX9	ORPHA:140
HP:0000478	Abnormality of the eye	64175	P3H1	OMIM:610915
HP:0000478	Abnormality of the eye	57216	VANGL2	ORPHA:563612
HP:0000478	Abnormality of the eye	5424	POLD1	OMIM:615381
HP:0000478	Abnormality of the eye	11285	B4GALT7	OMIM:130070
HP:0000478	Abnormality of the eye	5447	POR	OMIM:201750
HP:0000478	Abnormality of the eye	5447	POR	OMIM:207410
HP:0000478	Abnormality of the eye	79796	ALG9	ORPHA:79328
HP:0000478	Abnormality of the eye	79796	ALG9	OMIM:263210
HP:0000478	Abnormality of the eye	54928	BPNT2	OMIM:614078
HP:0000478	Abnormality of the eye	3662	IRF4	ORPHA:3452
HP:0000478	Abnormality of the eye	56975	FAM20C	ORPHA:1832
HP:0000478	Abnormality of the eye	56975	FAM20C	OMIM:259775
HP:0000478	Abnormality of the eye	23414	ZFPM2	OMIM:187500
HP:0000478	Abnormality of the eye	23414	ZFPM2	ORPHA:3303
HP:0000478	Abnormality of the eye	1482	NKX2-5	OMIM:187500
HP:0000478	Abnormality of the eye	1482	NKX2-5	ORPHA:3303
HP:0000478	Abnormality of the eye	2627	GATA6	OMIM:187500
HP:0000478	Abnormality of the eye	2627	GATA6	ORPHA:3303
HP:0000478	Abnormality of the eye	249	ALPL	OMIM:241510
HP:0000478	Abnormality of the eye	23483	TGDS	OMIM:616145
HP:0000478	Abnormality of the eye	1028	CDKN1C	OMIM:130650
HP:0000478	Abnormality of the eye	10984	KCNQ1OT1	OMIM:130650
HP:0000478	Abnormality of the eye	3481	IGF2	OMIM:130650
HP:0000478	Abnormality of the eye	3784	KCNQ1	OMIM:130650
HP:0000478	Abnormality of the eye	9652	SKIC3	OMIM:222470
HP:0000478	Abnormality of the eye	4615	MYD88	ORPHA:33226
HP:0000478	Abnormality of the eye	91252	SLC39A13	ORPHA:157965
HP:0000478	Abnormality of the eye	5881	RAC3	OMIM:618577
HP:0000478	Abnormality of the eye	4921	DDR2	OMIM:271665
HP:0000478	Abnormality of the eye	9488	PIGB	OMIM:618580
HP:0000478	Abnormality of the eye	8925	HERC1	OMIM:617011
HP:0000478	Abnormality of the eye	8925	HERC1	ORPHA:457359
HP:0000478	Abnormality of the eye	137814	NKX2-6	ORPHA:3303
HP:0000478	Abnormality of the eye	3791	KDR	ORPHA:3303
HP:0000478	Abnormality of the eye	2657	GDF1	ORPHA:3303
HP:0000478	Abnormality of the eye	140628	GATA5	ORPHA:3303
HP:0000478	Abnormality of the eye	2324	FLT4	ORPHA:3303
HP:0000478	Abnormality of the eye	10370	CITED2	ORPHA:3303
HP:0000478	Abnormality of the eye	1781	DYNC1I2	OMIM:618492
HP:0000478	Abnormality of the eye	633	BGN	OMIM:300989
HP:0000478	Abnormality of the eye	23233	EXOC6B	ORPHA:93359
HP:0000478	Abnormality of the eye	91461	PKDCC	OMIM:618821
HP:0000478	Abnormality of the eye	2254	FGF9	OMIM:612961
HP:0000478	Abnormality of the eye	55755	CDK5RAP2	OMIM:604804
HP:0000478	Abnormality of the eye	83737	ITCH	OMIM:613385
HP:0000478	Abnormality of the eye	83737	ITCH	ORPHA:228426
HP:0000478	Abnormality of the eye	55252	ASXL2	OMIM:617190
HP:0000478	Abnormality of the eye	259266	ASPM	OMIM:608716
HP:0000478	Abnormality of the eye	10491	CRTAP	OMIM:610682
HP:0000478	Abnormality of the eye	8815	BANF1	OMIM:614008
HP:0000478	Abnormality of the eye	55790	CSGALNACT1	ORPHA:1425
HP:0000478	Abnormality of the eye	4654	MYOD1	OMIM:618975
HP:0000478	Abnormality of the eye	9071	CLDN10	OMIM:617671
HP:0000478	Abnormality of the eye	6558	SLC12A2	OMIM:619080
HP:0000478	Abnormality of the eye	5075	PAX1	OMIM:615560
HP:0000478	Abnormality of the eye	3978	LIG1	OMIM:619774
HP:0000478	Abnormality of the eye	23328	SASH1	OMIM:618373
HP:0000478	Abnormality of the eye	165918	RNF168	ORPHA:420741
HP:0000478	Abnormality of the eye	4629	MYH11	ORPHA:91387
HP:0000478	Abnormality of the eye	4015	LOX	ORPHA:91387
HP:0000478	Abnormality of the eye	4087	SMAD2	ORPHA:91387
HP:0000478	Abnormality of the eye	7043	TGFB3	ORPHA:91387
HP:0000478	Abnormality of the eye	5592	PRKG1	ORPHA:91387
HP:0000478	Abnormality of the eye	4144	MAT2A	ORPHA:91387
HP:0000478	Abnormality of the eye	23493	HEY2	ORPHA:91387
HP:0000478	Abnormality of the eye	8076	MFAP5	ORPHA:91387
HP:0000478	Abnormality of the eye	4638	MYLK	ORPHA:91387
HP:0000478	Abnormality of the eye	197257	LDHD	OMIM:245450
HP:0000478	Abnormality of the eye	1750	DLX6	ORPHA:2440
HP:0000478	Abnormality of the eye	7979	SEM1	ORPHA:2440
HP:0000478	Abnormality of the eye	8945	BTRC	ORPHA:2440
HP:0000478	Abnormality of the eye	58513	EPS15L1	ORPHA:2440
HP:0000478	Abnormality of the eye	6468	FBXW4	ORPHA:2440
HP:0000478	Abnormality of the eye	7480	WNT10B	ORPHA:2440
HP:0000478	Abnormality of the eye	1749	DLX5	ORPHA:2440
HP:0000478	Abnormality of the eye	5978	REST	ORPHA:654
HP:0000478	Abnormality of the eye	10155	TRIM28	ORPHA:654
HP:0000478	Abnormality of the eye	11281	POU6F2	ORPHA:654
HP:0000478	Abnormality of the eye	2719	GPC3	ORPHA:654
HP:0000478	Abnormality of the eye	283120	H19	ORPHA:654
HP:0000478	Abnormality of the eye	5915	RARB	OMIM:615524
HP:0000478	Abnormality of the eye	5915	RARB	ORPHA:2470
HP:0000478	Abnormality of the eye	81788	NUAK2	OMIM:619452
HP:0000478	Abnormality of the eye	54982	CLN6	OMIM:601780
HP:0000478	Abnormality of the eye	79587	CARS2	ORPHA:477774
HP:0000478	Abnormality of the eye	10111	RAD50	OMIM:613078
HP:0000478	Abnormality of the eye	790955	UQCC3	OMIM:616111
HP:0000478	Abnormality of the eye	22859	ADGRL1	OMIM:620065
HP:0000478	Abnormality of the eye	7707	ZNF148	OMIM:617260
HP:0000478	Abnormality of the eye	80152	CENPT	OMIM:618702
HP:0000478	Abnormality of the eye	7167	TPI1	OMIM:615512
HP:0000478	Abnormality of the eye	4718	NDUFC2	OMIM:619170
HP:0000478	Abnormality of the eye	84340	GFM2	ORPHA:565624
HP:0000478	Abnormality of the eye	55331	ACER3	OMIM:617762
HP:0000478	Abnormality of the eye	4883	NPR3	OMIM:619543
HP:0000478	Abnormality of the eye	284086	NEK8	OMIM:613824
HP:0000478	Abnormality of the eye	356	FASLG	ORPHA:3261
HP:0000478	Abnormality of the eye	5580	PRKCD	ORPHA:3261
HP:0000478	Abnormality of the eye	843	CASP10	ORPHA:3261
HP:0000478	Abnormality of the eye	10125	RASGRP1	ORPHA:3261
HP:0000478	Abnormality of the eye	2859	GPR35	ORPHA:171
HP:0000478	Abnormality of the eye	10507	SEMA4D	ORPHA:171
HP:0000478	Abnormality of the eye	4485	MST1	ORPHA:171
HP:0000478	Abnormality of the eye	939	CD27	OMIM:615122
HP:0000478	Abnormality of the eye	151188	ARL6IP6	ORPHA:1556
HP:0000478	Abnormality of the eye	1291	COL6A1	ORPHA:75840
HP:0000478	Abnormality of the eye	1292	COL6A2	ORPHA:75840
HP:0000478	Abnormality of the eye	1293	COL6A3	ORPHA:75840
HP:0000478	Abnormality of the eye	9630	GNA14	ORPHA:1063
HP:0000478	Abnormality of the eye	1284	COL4A2	OMIM:614483
HP:0000478	Abnormality of the eye	10013	HDAC6	ORPHA:163966
HP:0000478	Abnormality of the eye	10013	HDAC6	OMIM:300863
HP:0000478	Abnormality of the eye	11023	VAX1	OMIM:614402
HP:0000478	Abnormality of the eye	1173	AP2M1	ORPHA:1942
HP:0000478	Abnormality of the eye	1106	CHD2	ORPHA:1942
HP:0000478	Abnormality of the eye	6529	SLC6A1	ORPHA:1942
HP:0000478	Abnormality of the eye	29980	DONSON	OMIM:251230
HP:0000478	Abnormality of the eye	80216	ALPK1	OMIM:614979
HP:0000478	Abnormality of the eye	10319	LAMC3	OMIM:614115
HP:0000478	Abnormality of the eye	7957	EPM2A	OMIM:254780
HP:0000478	Abnormality of the eye	378884	NHLRC1	OMIM:254780
HP:0000478	Abnormality of the eye	2639	GCDH	ORPHA:25
HP:0000478	Abnormality of the eye	5551	PRF1	ORPHA:88
HP:0000478	Abnormality of the eye	51119	SBDS	ORPHA:88
HP:0000478	Abnormality of the eye	36	ACADSB	OMIM:610006
HP:0000478	Abnormality of the eye	51651	PTRH2	ORPHA:456312
HP:0000478	Abnormality of the eye	51651	PTRH2	OMIM:616263
HP:0000478	Abnormality of the eye	283209	PGM2L1	OMIM:620191
HP:0000478	Abnormality of the eye	3032	HADHB	ORPHA:746
HP:0000478	Abnormality of the eye	3033	HADH	ORPHA:71212
HP:0000478	Abnormality of the eye	2937	GSS	OMIM:266130
HP:0000478	Abnormality of the eye	57061	HYMAI	ORPHA:96191
HP:0000478	Abnormality of the eye	5325	PLAGL1	ORPHA:96191
HP:0000478	Abnormality of the eye	1663	DDX11	OMIM:613398
HP:0000478	Abnormality of the eye	83483	PLVAP	OMIM:618183
HP:0000478	Abnormality of the eye	4576	MT-TT	ORPHA:254857
HP:0000478	Abnormality of the eye	121340	SP7	OMIM:613849
HP:0000478	Abnormality of the eye	6228	RPS23	OMIM:617412
HP:0000478	Abnormality of the eye	55603	TENT5A	OMIM:617952
HP:0000478	Abnormality of the eye	23184	MESD	OMIM:618644
HP:0000478	Abnormality of the eye	90993	CREB3L1	OMIM:616229
HP:0000478	Abnormality of the eye	9509	ADAMTS2	OMIM:225410
HP:0000478	Abnormality of the eye	649	BMP1	OMIM:614856
HP:0000478	Abnormality of the eye	5593	PRKG2	OMIM:619638
HP:0000478	Abnormality of the eye	1836	SLC26A2	ORPHA:628
HP:0000478	Abnormality of the eye	1528	CYB5A	ORPHA:621
HP:0000478	Abnormality of the eye	1303	COL12A1	ORPHA:536516
HP:0000478	Abnormality of the eye	715	C1R	OMIM:130080
HP:0000478	Abnormality of the eye	10220	GDF11	OMIM:619122
HP:0000478	Abnormality of the eye	57570	TRMT5	OMIM:616539
HP:0000478	Abnormality of the eye	55898	UNC45A	OMIM:619377
HP:0000478	Abnormality of the eye	5236	PGM1	OMIM:614921
HP:0000478	Abnormality of the eye	5479	PPIB	OMIM:259440
HP:0000478	Abnormality of the eye	387733	IFITM5	OMIM:610967
HP:0000478	Abnormality of the eye	60681	FKBP10	OMIM:610968
HP:0000478	Abnormality of the eye	7471	WNT1	OMIM:615220
HP:0000478	Abnormality of the eye	55151	TMEM38B	OMIM:615066
HP:0000478	Abnormality of the eye	3636	INPPL1	ORPHA:2746
HP:0000478	Abnormality of the eye	871	SERPINH1	OMIM:613848
HP:0000478	Abnormality of the eye	100134444	KCNJ18	ORPHA:79102
HP:0000478	Abnormality of the eye	84706	GPT2	OMIM:616281
HP:0000478	Abnormality of the eye	84706	GPT2	ORPHA:477673
HP:0000478	Abnormality of the eye	91452	ACBD5	OMIM:618863
HP:0000478	Abnormality of the eye	56896	DPYSL5	OMIM:619435
HP:0000478	Abnormality of the eye	23019	CNOT1	OMIM:618500
HP:0000478	Abnormality of the eye	23019	CNOT1	ORPHA:556955
HP:0000478	Abnormality of the eye	55627	SMPD4	OMIM:618622
HP:0000478	Abnormality of the eye	5575	PRKAR1B	OMIM:619680
HP:0000478	Abnormality of the eye	29998	BICRA	OMIM:619325
HP:0000478	Abnormality of the eye	5859	QARS1	OMIM:615760
HP:0000478	Abnormality of the eye	84162	BLTP1	OMIM:617822
HP:0000478	Abnormality of the eye	2624	GATA2	OMIM:614038
HP:0000478	Abnormality of the eye	22858	CILK1	OMIM:612651
HP:0000478	Abnormality of the eye	84520	GON7	OMIM:619603
HP:0000478	Abnormality of the eye	55033	FKBP14	OMIM:614557
HP:0000478	Abnormality of the eye	23729	SHPK	ORPHA:440713
HP:0000478	Abnormality of the eye	26153	KIF26A	OMIM:620156
HP:0000478	Abnormality of the eye	84987	COX14	OMIM:619053
HP:0000478	Abnormality of the eye	83696	TRAPPC9	OMIM:613192
HP:0000478	Abnormality of the eye	537	ATP6AP1	OMIM:300972
HP:0000478	Abnormality of the eye	815	CAMK2A	OMIM:617798
HP:0000478	Abnormality of the eye	5831	PYCR1	OMIM:612940
HP:0000478	Abnormality of the eye	158326	FREM1	ORPHA:3366
HP:0000478	Abnormality of the eye	372	ARCN1	OMIM:617164
HP:0000478	Abnormality of the eye	5442	POLRMT	OMIM:619743
HP:0000478	Abnormality of the eye	3188	HNRNPH2	OMIM:300986
HP:0000478	Abnormality of the eye	51199	NIN	OMIM:614851
HP:0000478	Abnormality of the eye	51199	NIN	ORPHA:319675
HP:0000478	Abnormality of the eye	55154	MSTO1	ORPHA:502423
HP:0000478	Abnormality of the eye	10801	SEPTIN9	OMIM:162100
HP:0000478	Abnormality of the eye	2121	EVC	OMIM:193530
HP:0000478	Abnormality of the eye	132884	EVC2	OMIM:193530
HP:0000478	Abnormality of the eye	10056	FARSB	OMIM:613658
HP:0000478	Abnormality of the eye	145258	GSC	OMIM:602471
HP:0000478	Abnormality of the eye	8239	USP9X	OMIM:300968
HP:0000478	Abnormality of the eye	90416	CCDC32	OMIM:619123
HP:0000478	Abnormality of the eye	84919	PPP1R15B	OMIM:616817
HP:0000478	Abnormality of the eye	84919	PPP1R15B	ORPHA:391408
HP:0000478	Abnormality of the eye	93587	TRMT10A	ORPHA:391408
HP:0000478	Abnormality of the eye	6714	SRC	OMIM:616937
HP:0000478	Abnormality of the eye	4677	NARS1	OMIM:619091
HP:0000478	Abnormality of the eye	2678	GGT1	OMIM:231950
HP:0000478	Abnormality of the eye	8295	TRRAP	OMIM:618454
HP:0000478	Abnormality of the eye	1523	CUX1	OMIM:618330
HP:0000478	Abnormality of the eye	84148	KAT8	OMIM:618974
HP:0000478	Abnormality of the eye	51002	TPRKB	ORPHA:2065
HP:0000478	Abnormality of the eye	57122	NUP107	ORPHA:2065
HP:0000478	Abnormality of the eye	55746	NUP133	ORPHA:2065
HP:0000478	Abnormality of the eye	112858	TP53RK	ORPHA:2065
HP:0000478	Abnormality of the eye	64858	DCLRE1B	OMIM:620133
HP:0000478	Abnormality of the eye	274	BIN1	ORPHA:169186
HP:0000478	Abnormality of the eye	274	BIN1	OMIM:255200
HP:0000478	Abnormality of the eye	10290	SPEG	ORPHA:169186
HP:0000478	Abnormality of the eye	10290	SPEG	OMIM:615959
HP:0000478	Abnormality of the eye	6261	RYR1	ORPHA:169186
HP:0000478	Abnormality of the eye	6261	RYR1	ORPHA:424107
HP:0000478	Abnormality of the eye	6261	RYR1	ORPHA:597
HP:0000478	Abnormality of the eye	7273	TTN	ORPHA:169186
HP:0000478	Abnormality of the eye	8106	PABPN1	ORPHA:270
HP:0000478	Abnormality of the eye	56203	LMOD3	OMIM:616165
HP:0000478	Abnormality of the eye	56203	LMOD3	ORPHA:171430
HP:0000478	Abnormality of the eye	58	ACTA1	ORPHA:171433
HP:0000478	Abnormality of the eye	58	ACTA1	ORPHA:171430
HP:0000478	Abnormality of the eye	58	ACTA1	ORPHA:2020
HP:0000478	Abnormality of the eye	4703	NEB	ORPHA:171433
HP:0000478	Abnormality of the eye	4703	NEB	ORPHA:171430
HP:0000478	Abnormality of the eye	10324	KLHL41	ORPHA:171433
HP:0000478	Abnormality of the eye	10324	KLHL41	ORPHA:171430
HP:0000478	Abnormality of the eye	7170	TPM3	ORPHA:171433
HP:0000478	Abnormality of the eye	7170	TPM3	ORPHA:2020
HP:0000478	Abnormality of the eye	7170	TPM3	OMIM:255310
HP:0000478	Abnormality of the eye	131377	KLHL40	ORPHA:171430
HP:0000478	Abnormality of the eye	7259	TSPYL1	ORPHA:168593
HP:0000478	Abnormality of the eye	8888	MCM3AP	OMIM:618124
HP:0000478	Abnormality of the eye	4620	MYH2	OMIM:605637
HP:0000478	Abnormality of the eye	57190	SELENON	ORPHA:2020
HP:0000478	Abnormality of the eye	4633	MYL2	ORPHA:2020
HP:0000478	Abnormality of the eye	3679	ITGA7	ORPHA:2020
HP:0000478	Abnormality of the eye	7169	TPM2	ORPHA:2020
HP:0000478	Abnormality of the eye	9200	HACD1	ORPHA:2020
HP:0000478	Abnormality of the eye	51776	MAP3K20	ORPHA:2020
HP:0000478	Abnormality of the eye	246243	RNASEH1	OMIM:616479
HP:0000478	Abnormality of the eye	6305	SBF1	OMIM:615284
HP:0000478	Abnormality of the eye	55739	NAXD	OMIM:618321
HP:0000478	Abnormality of the eye	84833	ATP5MK	OMIM:618683
HP:0000478	Abnormality of the eye	779	CACNA1S	OMIM:620246
HP:0000478	Abnormality of the eye	124454	EARS2	OMIM:614924
HP:0000478	Abnormality of the eye	7415	VCP	ORPHA:275872
HP:0000478	Abnormality of the eye	23435	TARDBP	ORPHA:275872
HP:0000478	Abnormality of the eye	29110	TBK1	ORPHA:275872
HP:0000478	Abnormality of the eye	400916	CHCHD10	ORPHA:275872
HP:0000478	Abnormality of the eye	203228	C9orf72	OMIM:105550
HP:0000478	Abnormality of the eye	735	C9	OMIM:615591
HP:0000478	Abnormality of the eye	1471	CST3	OMIM:611953
HP:0000478	Abnormality of the eye	3980	LIG3	OMIM:619780
HP:0000478	Abnormality of the eye	5626	PROP1	ORPHA:226307
HP:0000478	Abnormality of the eye	5626	PROP1	ORPHA:95494
HP:0000478	Abnormality of the eye	89884	LHX4	ORPHA:226307
HP:0000478	Abnormality of the eye	89884	LHX4	ORPHA:95494
HP:0000478	Abnormality of the eye	8022	LHX3	ORPHA:226307
HP:0000478	Abnormality of the eye	5449	POU1F1	ORPHA:226307
HP:0000478	Abnormality of the eye	5449	POU1F1	ORPHA:95494
HP:0000478	Abnormality of the eye	775	CACNA1C	OMIM:620029
HP:0000478	Abnormality of the eye	84282	RNF135	ORPHA:137634
HP:0000478	Abnormality of the eye	1788	DNMT3A	OMIM:615879
HP:0000478	Abnormality of the eye	51807	TUBA8	ORPHA:250972
HP:0000478	Abnormality of the eye	8854	ALDH1A2	OMIM:620025
HP:0000478	Abnormality of the eye	25914	RTTN	ORPHA:468631
HP:0000478	Abnormality of the eye	25914	RTTN	OMIM:614833
HP:0000478	Abnormality of the eye	8405	SPOP	OMIM:618828
HP:0000478	Abnormality of the eye	256297	PTF1A	OMIM:609069
HP:0000478	Abnormality of the eye	256297	PTF1A	ORPHA:65288
HP:0000478	Abnormality of the eye	3190	HNRNPK	ORPHA:453504
HP:0000478	Abnormality of the eye	3190	HNRNPK	ORPHA:352665
HP:0000478	Abnormality of the eye	57459	GATAD2B	ORPHA:363686
HP:0000478	Abnormality of the eye	3170	FOXA2	ORPHA:95494
HP:0000478	Abnormality of the eye	4208	MEF2C	ORPHA:228384
HP:0000478	Abnormality of the eye	25930	PTPN23	OMIM:618890
HP:0000478	Abnormality of the eye	7545	ZIC1	OMIM:618736
HP:0000478	Abnormality of the eye	1188	CLCNKB	OMIM:607364
HP:0000478	Abnormality of the eye	4919	ROR1	OMIM:617654
HP:0000478	Abnormality of the eye	116931	MED12L	OMIM:618872
HP:0000478	Abnormality of the eye	64412	GZF1	OMIM:617662
HP:0000478	Abnormality of the eye	26128	KIFBP	ORPHA:66629
HP:0000478	Abnormality of the eye	4853	NOTCH2	OMIM:102500
HP:0000478	Abnormality of the eye	4853	NOTCH2	ORPHA:955
HP:0000478	Abnormality of the eye	5950	RBP4	OMIM:615147
HP:0000478	Abnormality of the eye	5950	RBP4	OMIM:616428
HP:0000478	Abnormality of the eye	4036	LRP2	ORPHA:2143
HP:0000478	Abnormality of the eye	4036	LRP2	OMIM:222448
HP:0000478	Abnormality of the eye	2313	FLI1	ORPHA:2308
HP:0000478	Abnormality of the eye	84172	POLR1B	ORPHA:861
HP:0000478	Abnormality of the eye	9533	POLR1C	ORPHA:861
HP:0000478	Abnormality of the eye	51082	POLR1D	ORPHA:861
HP:0000478	Abnormality of the eye	6949	TCOF1	ORPHA:861
HP:0000478	Abnormality of the eye	8643	PTCH2	ORPHA:377
HP:0000478	Abnormality of the eye	50945	TBX22	ORPHA:921
HP:0000478	Abnormality of the eye	257	ALX3	ORPHA:391474
HP:0000478	Abnormality of the eye	4047	LSS	ORPHA:2850
HP:0000478	Abnormality of the eye	197	AHSG	ORPHA:2850
HP:0000478	Abnormality of the eye	3694	ITGB6	ORPHA:2850
HP:0000478	Abnormality of the eye	169522	KCNV2	OMIM:610356
HP:0000478	Abnormality of the eye	105371045	PERCC1	ORPHA:92050
HP:0000478	Abnormality of the eye	80326	WNT10A	OMIM:257980
HP:0000478	Abnormality of the eye	80326	WNT10A	OMIM:150400
HP:0000478	Abnormality of the eye	1909	EDNRA	OMIM:157300
HP:0000478	Abnormality of the eye	2099	ESR1	OMIM:157300
HP:0000478	Abnormality of the eye	7124	TNF	OMIM:157300
HP:0000478	Abnormality of the eye	2303	FOXC2	ORPHA:33001
HP:0000478	Abnormality of the eye	2303	FOXC2	OMIM:153400
HP:0000478	Abnormality of the eye	64127	NOD2	ORPHA:90340
HP:0000478	Abnormality of the eye	5429	POLH	ORPHA:90342
HP:0000478	Abnormality of the eye	5429	POLH	OMIM:278750
HP:0000478	Abnormality of the eye	22861	NLRP1	OMIM:617388
HP:0000478	Abnormality of the eye	11190	CEP250	OMIM:618358
HP:0000478	Abnormality of the eye	10320	IKZF1	ORPHA:36426
HP:0000478	Abnormality of the eye	388531	RGS9BP	ORPHA:75374
HP:0000478	Abnormality of the eye	5422	POLA1	OMIM:301220
HP:0000478	Abnormality of the eye	112802	KRT71	ORPHA:170
HP:0000478	Abnormality of the eye	121391	KRT74	ORPHA:170
HP:0000478	Abnormality of the eye	200879	LIPH	ORPHA:170
HP:0000478	Abnormality of the eye	10161	LPAR6	ORPHA:170
HP:0000478	Abnormality of the eye	147183	KRT25	ORPHA:170
HP:0000478	Abnormality of the eye	8929	PHOX2B	ORPHA:2151
HP:0000478	Abnormality of the eye	55733	HHAT	ORPHA:1422
HP:0000478	Abnormality of the eye	84876	ORAI1	ORPHA:3204
HP:0000478	Abnormality of the eye	84876	ORAI1	OMIM:615883
HP:0000478	Abnormality of the eye	6786	STIM1	ORPHA:3204
HP:0000478	Abnormality of the eye	6786	STIM1	OMIM:185070
HP:0000478	Abnormality of the eye	1644	DDC	OMIM:608643
HP:0000478	Abnormality of the eye	1497	CTNS	OMIM:219800
HP:0000478	Abnormality of the eye	341640	FREM2	ORPHA:2052
HP:0000478	Abnormality of the eye	23426	GRIP1	ORPHA:2052
HP:0000478	Abnormality of the eye	5351	PLOD1	OMIM:225400
HP:0000478	Abnormality of the eye	51569	UFM1	OMIM:617899
HP:0000478	Abnormality of the eye	54820	NDE1	ORPHA:2177
HP:0000478	Abnormality of the eye	215	ABCD1	ORPHA:139396
HP:0000478	Abnormality of the eye	215	ABCD1	OMIM:300100
HP:0000478	Abnormality of the eye	5230	PGK1	ORPHA:713
HP:0000478	Abnormality of the eye	56244	BTNL2	ORPHA:797
HP:0000478	Abnormality of the eye	5627	PROS1	OMIM:614514
HP:0000478	Abnormality of the eye	5340	PLG	OMIM:217090
HP:0000478	Abnormality of the eye	2811	GP1BA	ORPHA:853
HP:0000478	Abnormality of the eye	3674	ITGA2B	ORPHA:853
HP:0000478	Abnormality of the eye	3673	ITGA2	ORPHA:853
HP:0000478	Abnormality of the eye	135228	CD109	ORPHA:853
HP:0000478	Abnormality of the eye	3690	ITGB3	ORPHA:853
HP:0000478	Abnormality of the eye	5296	PIK3R2	OMIM:603387
HP:0000478	Abnormality of the eye	10084	PQBP1	OMIM:309500
HP:0000478	Abnormality of the eye	9928	KIF14	OMIM:617914
HP:0000478	Abnormality of the eye	2706	GJB2	OMIM:148210
HP:0000478	Abnormality of the eye	149233	IL23R	ORPHA:117
HP:0000478	Abnormality of the eye	6775	STAT4	ORPHA:117
HP:0000478	Abnormality of the eye	3586	IL10	ORPHA:117
HP:0000478	Abnormality of the eye	4210	MEFV	ORPHA:117
HP:0000478	Abnormality of the eye	1230	CCR1	ORPHA:117
HP:0000478	Abnormality of the eye	355	FAS	ORPHA:117
HP:0000478	Abnormality of the eye	3592	IL12A	ORPHA:117
HP:0000478	Abnormality of the eye	101928376	IL12A-AS1	ORPHA:117
HP:0000478	Abnormality of the eye	7099	TLR4	ORPHA:117
HP:0000478	Abnormality of the eye	3459	IFNGR1	ORPHA:117
HP:0000478	Abnormality of the eye	720	C4A	ORPHA:117
HP:0000478	Abnormality of the eye	337867	UBAC2	ORPHA:117
HP:0000478	Abnormality of the eye	51752	ERAP1	ORPHA:117
HP:0000478	Abnormality of the eye	8302	KLRC4	ORPHA:117
HP:0000478	Abnormality of the eye	1621	DBH	ORPHA:230
HP:0000478	Abnormality of the eye	6559	SLC12A3	OMIM:263800
HP:0000478	Abnormality of the eye	6559	SLC12A3	ORPHA:358
HP:0000478	Abnormality of the eye	182	JAG1	OMIM:617992
HP:0000478	Abnormality of the eye	182	JAG1	OMIM:118450
HP:0000478	Abnormality of the eye	5167	ENPP1	ORPHA:51608
HP:0000478	Abnormality of the eye	368	ABCC6	ORPHA:51608
HP:0000478	Abnormality of the eye	2138	EYA1	OMIM:113650
HP:0000478	Abnormality of the eye	6495	SIX1	OMIM:113650
HP:0000478	Abnormality of the eye	85446	ZFHX2	OMIM:147430
HP:0000478	Abnormality of the eye	6335	SCN9A	OMIM:167400
HP:0000478	Abnormality of the eye	197131	UBR1	ORPHA:2315
HP:0000478	Abnormality of the eye	162	AP1B1	OMIM:242150
HP:0000478	Abnormality of the eye	59335	PRDM12	OMIM:616488
HP:0000478	Abnormality of the eye	101929726	MYMX	ORPHA:1358
HP:0000478	Abnormality of the eye	51132	RLIM	OMIM:300978
HP:0000478	Abnormality of the eye	5573	PRKAR1A	ORPHA:280651
HP:0000478	Abnormality of the eye	5573	PRKAR1A	OMIM:101800
HP:0000478	Abnormality of the eye	5144	PDE4D	ORPHA:280651
HP:0000478	Abnormality of the eye	5144	PDE4D	OMIM:614613
HP:0000478	Abnormality of the eye	5594	MAPK1	OMIM:619087
HP:0000478	Abnormality of the eye	4254	KITLG	OMIM:619947
HP:0000478	Abnormality of the eye	5053	PAH	OMIM:261600
HP:0000478	Abnormality of the eye	1718	DHCR24	OMIM:602398
HP:0000478	Abnormality of the eye	1718	DHCR24	ORPHA:35107
HP:0000478	Abnormality of the eye	4524	MTHFR	ORPHA:395
HP:0000478	Abnormality of the eye	26235	FBXL4	OMIM:615471
HP:0000478	Abnormality of the eye	9254	CACNA2D2	OMIM:618501
HP:0000478	Abnormality of the eye	1786	DNMT1	ORPHA:314404
HP:0000478	Abnormality of the eye	5457	POU4F1	ORPHA:314647
HP:0000478	Abnormality of the eye	5457	POU4F1	OMIM:619352
HP:0000478	Abnormality of the eye	23261	CAMTA1	ORPHA:314647
HP:0000478	Abnormality of the eye	51	ACOX1	ORPHA:2971
HP:0000478	Abnormality of the eye	51	ACOX1	OMIM:264470
HP:0000478	Abnormality of the eye	51099	ABHD5	OMIM:275630
HP:0000478	Abnormality of the eye	51099	ABHD5	ORPHA:98907
HP:0000478	Abnormality of the eye	6687	SPG7	ORPHA:99013
HP:0000478	Abnormality of the eye	6687	SPG7	OMIM:607259
HP:0000478	Abnormality of the eye	4552	MTRR	OMIM:236270
HP:0000478	Abnormality of the eye	4552	MTRR	ORPHA:2169
HP:0000478	Abnormality of the eye	65993	MRPS34	OMIM:617664
HP:0000478	Abnormality of the eye	23322	RPGRIP1L	ORPHA:220497
HP:0000478	Abnormality of the eye	23322	RPGRIP1L	ORPHA:1454
HP:0000478	Abnormality of the eye	23322	RPGRIP1L	OMIM:611560
HP:0000478	Abnormality of the eye	55690	PACS1	OMIM:615009
HP:0000478	Abnormality of the eye	95681	CEP41	ORPHA:220493
HP:0000478	Abnormality of the eye	95681	CEP41	ORPHA:475
HP:0000478	Abnormality of the eye	10686	CLDN16	OMIM:248250
HP:0000478	Abnormality of the eye	16	AARS1	OMIM:616339
HP:0000478	Abnormality of the eye	16	AARS1	ORPHA:442835
HP:0000478	Abnormality of the eye	55636	CHD7	ORPHA:138
HP:0000478	Abnormality of the eye	55636	CHD7	ORPHA:478
HP:0000478	Abnormality of the eye	9723	SEMA3E	ORPHA:138
HP:0000478	Abnormality of the eye	79868	ALG13	ORPHA:324422
HP:0000478	Abnormality of the eye	1716	DGUOK	OMIM:251880
HP:0000478	Abnormality of the eye	857	CAV1	OMIM:606721
HP:0000478	Abnormality of the eye	5297	PI4KA	OMIM:619621
HP:0000478	Abnormality of the eye	5297	PI4KA	ORPHA:98889
HP:0000478	Abnormality of the eye	5297	PI4KA	OMIM:619708
HP:0000478	Abnormality of the eye	57231	SNX14	OMIM:616354
HP:0000478	Abnormality of the eye	57231	SNX14	ORPHA:397709
HP:0000478	Abnormality of the eye	5833	PCYT2	OMIM:618770
HP:0000478	Abnormality of the eye	8550	MAPKAPK5	OMIM:619869
HP:0000478	Abnormality of the eye	3340	NDST1	OMIM:616116
HP:0000478	Abnormality of the eye	788	SLC25A20	ORPHA:159
HP:0000478	Abnormality of the eye	5373	PMM2	OMIM:212065
HP:0000478	Abnormality of the eye	92482	BBIP1	ORPHA:110
HP:0000478	Abnormality of the eye	11020	IFT27	ORPHA:110
HP:0000478	Abnormality of the eye	51057	WDPCP	ORPHA:110
HP:0000478	Abnormality of the eye	84984	CEP19	ORPHA:110
HP:0000478	Abnormality of the eye	22954	TRIM32	ORPHA:110
HP:0000478	Abnormality of the eye	79738	BBS10	ORPHA:110
HP:0000478	Abnormality of the eye	585	BBS4	ORPHA:110
HP:0000478	Abnormality of the eye	8195	MKKS	ORPHA:110
HP:0000478	Abnormality of the eye	55212	BBS7	ORPHA:110
HP:0000478	Abnormality of the eye	166379	BBS12	ORPHA:110
HP:0000478	Abnormality of the eye	5604	MAP2K1	OMIM:615279
HP:0000478	Abnormality of the eye	5604	MAP2K1	ORPHA:1340
HP:0000478	Abnormality of the eye	472	ATM	ORPHA:100
HP:0000478	Abnormality of the eye	472	ATM	OMIM:208900
HP:0000478	Abnormality of the eye	5605	MAP2K2	OMIM:615280
HP:0000478	Abnormality of the eye	5605	MAP2K2	ORPHA:1340
HP:0000478	Abnormality of the eye	54828	BCAS3	OMIM:619641
HP:0000478	Abnormality of the eye	122961	ISCA2	OMIM:616370
HP:0000478	Abnormality of the eye	2232	FDXR	ORPHA:543470
HP:0000478	Abnormality of the eye	2232	FDXR	OMIM:617717
HP:0000478	Abnormality of the eye	200424	TET3	OMIM:618798
HP:0000478	Abnormality of the eye	2778	GNAS	ORPHA:79443
HP:0000478	Abnormality of the eye	2778	GNAS	ORPHA:79444
HP:0000478	Abnormality of the eye	2778	GNAS	OMIM:103580
HP:0000478	Abnormality of the eye	2778	GNAS	ORPHA:94089
HP:0000478	Abnormality of the eye	2778	GNAS	OMIM:612463
HP:0000478	Abnormality of the eye	2778	GNAS	OMIM:612462
HP:0000478	Abnormality of the eye	84295	PHF6	ORPHA:127
HP:0000478	Abnormality of the eye	84295	PHF6	OMIM:301900
HP:0000478	Abnormality of the eye	5654	HTRA1	OMIM:600142
HP:0000478	Abnormality of the eye	85300	ATCAY	OMIM:601238
HP:0000478	Abnormality of the eye	85300	ATCAY	ORPHA:94122
HP:0000478	Abnormality of the eye	60529	ALX4	ORPHA:228390
HP:0000478	Abnormality of the eye	60529	ALX4	ORPHA:52022
HP:0000478	Abnormality of the eye	120	ADD3	OMIM:617008
HP:0000478	Abnormality of the eye	2583	B4GALNT1	OMIM:609195
HP:0000478	Abnormality of the eye	5813	PURA	OMIM:616158
HP:0000478	Abnormality of the eye	1642	DDB1	OMIM:619426
HP:0000478	Abnormality of the eye	1203	CLN5	ORPHA:228360
HP:0000478	Abnormality of the eye	1203	CLN5	OMIM:256731
HP:0000478	Abnormality of the eye	8473	OGT	OMIM:300997
HP:0000478	Abnormality of the eye	4311	MME	OMIM:617018
HP:0000478	Abnormality of the eye	8573	CASK	OMIM:300749
HP:0000478	Abnormality of the eye	8573	CASK	ORPHA:163937
HP:0000478	Abnormality of the eye	1798	DPAGT1	OMIM:608093
HP:0000478	Abnormality of the eye	1798	DPAGT1	ORPHA:86309
HP:0000478	Abnormality of the eye	8492	PRSS12	OMIM:249500
HP:0000478	Abnormality of the eye	8260	NAA10	ORPHA:568
HP:0000478	Abnormality of the eye	9758	FRMPD4	OMIM:300983
HP:0000478	Abnormality of the eye	64374	SIL1	ORPHA:559
HP:0000478	Abnormality of the eye	64374	SIL1	OMIM:248800
HP:0000478	Abnormality of the eye	51763	INPP5K	ORPHA:559
HP:0000478	Abnormality of the eye	4548	MTR	OMIM:250940
HP:0000478	Abnormality of the eye	3028	HSD17B10	ORPHA:391428
HP:0000478	Abnormality of the eye	3028	HSD17B10	OMIM:300438
HP:0000478	Abnormality of the eye	50801	KCNK4	OMIM:618381
HP:0000478	Abnormality of the eye	29957	SLC25A24	ORPHA:2095
HP:0000478	Abnormality of the eye	65250	CPLANE1	OMIM:277170
HP:0000478	Abnormality of the eye	65250	CPLANE1	ORPHA:2754
HP:0000478	Abnormality of the eye	65250	CPLANE1	ORPHA:475
HP:0000478	Abnormality of the eye	57187	THOC2	OMIM:300957
HP:0000478	Abnormality of the eye	57187	THOC2	ORPHA:457240
HP:0000478	Abnormality of the eye	10526	IPO8	OMIM:619472
HP:0000478	Abnormality of the eye	136647	MPLKIP	OMIM:234050
HP:0000478	Abnormality of the eye	136647	MPLKIP	ORPHA:33364
HP:0000478	Abnormality of the eye	100147744	RNU7-1	OMIM:619487
HP:0000478	Abnormality of the eye	100147744	RNU7-1	ORPHA:51
HP:0000478	Abnormality of the eye	6872	TAF1	OMIM:300966
HP:0000478	Abnormality of the eye	374879	ZNF699	OMIM:619488
HP:0000478	Abnormality of the eye	134353	LSM11	OMIM:619486
HP:0000478	Abnormality of the eye	134353	LSM11	ORPHA:51
HP:0000478	Abnormality of the eye	9373	PLAA	ORPHA:521426
HP:0000478	Abnormality of the eye	9373	PLAA	OMIM:617527
HP:0000478	Abnormality of the eye	10681	GNB5	ORPHA:542306
HP:0000478	Abnormality of the eye	10681	GNB5	OMIM:617173
HP:0000478	Abnormality of the eye	10681	GNB5	OMIM:617182
HP:0000478	Abnormality of the eye	7284	TUFM	OMIM:610678
HP:0000478	Abnormality of the eye	10479	SLC9A6	ORPHA:85278
HP:0000478	Abnormality of the eye	63899	NSUN3	OMIM:619012
HP:0000478	Abnormality of the eye	54187	NANS	OMIM:610442
HP:0000478	Abnormality of the eye	1968	EIF2S3	ORPHA:85282
HP:0000478	Abnormality of the eye	81615	TMEM163	OMIM:620243
HP:0000478	Abnormality of the eye	54936	ADPRS	OMIM:618170
HP:0000478	Abnormality of the eye	114034	TOE1	ORPHA:284339
HP:0000478	Abnormality of the eye	114034	TOE1	OMIM:614969
HP:0000478	Abnormality of the eye	9562	MINPP1	ORPHA:284339
HP:0000478	Abnormality of the eye	9562	MINPP1	OMIM:619527
HP:0000478	Abnormality of the eye	84842	HPDL	OMIM:619026
HP:0000478	Abnormality of the eye	284361	EMC10	OMIM:619264
HP:0000478	Abnormality of the eye	128674	PROKR2	ORPHA:3157
HP:0000478	Abnormality of the eye	128674	PROKR2	ORPHA:478
HP:0000478	Abnormality of the eye	9915	ARNT2	ORPHA:3157
HP:0000478	Abnormality of the eye	6095	RORA	OMIM:618060
HP:0000478	Abnormality of the eye	23241	PACS2	OMIM:618067
HP:0000478	Abnormality of the eye	57539	WDR35	OMIM:613610
HP:0000478	Abnormality of the eye	57539	WDR35	ORPHA:1515
HP:0000478	Abnormality of the eye	123263	MTFMT	OMIM:614947
HP:0000478	Abnormality of the eye	123263	MTFMT	ORPHA:255241
HP:0000478	Abnormality of the eye	79581	SLC52A2	OMIM:614707
HP:0000478	Abnormality of the eye	64324	NSD1	ORPHA:821
HP:0000478	Abnormality of the eye	64324	NSD1	OMIM:117550
HP:0000478	Abnormality of the eye	10297	APC2	ORPHA:821
HP:0000478	Abnormality of the eye	1717	DHCR7	ORPHA:818
HP:0000478	Abnormality of the eye	1717	DHCR7	OMIM:270400
HP:0000478	Abnormality of the eye	55780	ERMARD	ORPHA:75857
HP:0000478	Abnormality of the eye	4884	NPTX1	OMIM:620158
HP:0000478	Abnormality of the eye	4038	LRP4	ORPHA:3258
HP:0000478	Abnormality of the eye	87178	PNPT1	ORPHA:319514
HP:0000478	Abnormality of the eye	87178	PNPT1	OMIM:608703
HP:0000478	Abnormality of the eye	87178	PNPT1	ORPHA:101111
HP:0000478	Abnormality of the eye	87178	PNPT1	OMIM:614932
HP:0000478	Abnormality of the eye	25839	COG4	ORPHA:263501
HP:0000478	Abnormality of the eye	25839	COG4	OMIM:613489
HP:0000478	Abnormality of the eye	64207	IRF2BPL	OMIM:618088
HP:0000478	Abnormality of the eye	55157	DARS2	ORPHA:137898
HP:0000478	Abnormality of the eye	55157	DARS2	OMIM:611105
HP:0000478	Abnormality of the eye	9570	GOSR2	OMIM:620166
HP:0000478	Abnormality of the eye	672	BRCA1	ORPHA:84
HP:0000478	Abnormality of the eye	10459	MAD2L2	ORPHA:84
HP:0000478	Abnormality of the eye	7516	XRCC2	ORPHA:84
HP:0000478	Abnormality of the eye	29089	UBE2T	ORPHA:84
HP:0000478	Abnormality of the eye	675	BRCA2	ORPHA:84
HP:0000478	Abnormality of the eye	55120	FANCL	ORPHA:84
HP:0000478	Abnormality of the eye	2177	FANCD2	ORPHA:84
HP:0000478	Abnormality of the eye	2175	FANCA	ORPHA:84
HP:0000478	Abnormality of the eye	2176	FANCC	ORPHA:84
HP:0000478	Abnormality of the eye	2178	FANCE	ORPHA:84
HP:0000478	Abnormality of the eye	2188	FANCF	ORPHA:84
HP:0000478	Abnormality of the eye	2189	FANCG	ORPHA:84
HP:0000478	Abnormality of the eye	5888	RAD51	ORPHA:84
HP:0000478	Abnormality of the eye	5889	RAD51C	ORPHA:84
HP:0000478	Abnormality of the eye	55159	RFWD3	ORPHA:84
HP:0000478	Abnormality of the eye	83990	BRIP1	ORPHA:84
HP:0000478	Abnormality of the eye	57697	FANCM	ORPHA:84
HP:0000478	Abnormality of the eye	79728	PALB2	ORPHA:84
HP:0000478	Abnormality of the eye	84464	SLX4	ORPHA:84
HP:0000478	Abnormality of the eye	55215	FANCI	ORPHA:84
HP:0000478	Abnormality of the eye	54675	CRLS1	OMIM:620167
HP:0000478	Abnormality of the eye	823	CAPN1	OMIM:616907
HP:0000478	Abnormality of the eye	222663	SCUBE3	OMIM:619184
HP:0000478	Abnormality of the eye	23036	ZNF292	OMIM:619188
HP:0000478	Abnormality of the eye	4598	MVK	OMIM:610377
HP:0000478	Abnormality of the eye	3475	IFRD1	ORPHA:98771
HP:0000478	Abnormality of the eye	90624	LYRM7	OMIM:615838
HP:0000478	Abnormality of the eye	80704	SLC19A3	OMIM:607483
HP:0000478	Abnormality of the eye	80704	SLC19A3	ORPHA:255241
HP:0000478	Abnormality of the eye	64135	IFIH1	OMIM:615846
HP:0000478	Abnormality of the eye	64135	IFIH1	ORPHA:51
HP:0000478	Abnormality of the eye	27086	FOXP1	OMIM:613670
HP:0000478	Abnormality of the eye	27086	FOXP1	ORPHA:391372
HP:0000478	Abnormality of the eye	340024	SLC6A19	ORPHA:2116
HP:0000478	Abnormality of the eye	57393	CLTRN	ORPHA:2116
HP:0000478	Abnormality of the eye	55149	MTPAP	OMIM:613672
HP:0000478	Abnormality of the eye	55149	MTPAP	ORPHA:254343
HP:0000478	Abnormality of the eye	644096	SDHAF1	ORPHA:3208
HP:0000478	Abnormality of the eye	2961	GTF2E2	OMIM:616943
HP:0000478	Abnormality of the eye	2961	GTF2E2	ORPHA:33364
HP:0000478	Abnormality of the eye	64116	SLC39A8	ORPHA:468699
HP:0000478	Abnormality of the eye	64116	SLC39A8	OMIM:616721
HP:0000478	Abnormality of the eye	200403	VWA3B	OMIM:616948
HP:0000478	Abnormality of the eye	6567	SLC16A2	ORPHA:59
HP:0000478	Abnormality of the eye	57165	GJC2	OMIM:613206
HP:0000478	Abnormality of the eye	57165	GJC2	OMIM:608804
HP:0000478	Abnormality of the eye	9230	RAB11B	OMIM:617807
HP:0000478	Abnormality of the eye	10535	RNASEH2A	ORPHA:51
HP:0000478	Abnormality of the eye	84153	RNASEH2C	ORPHA:51
HP:0000478	Abnormality of the eye	84153	RNASEH2C	OMIM:610329
HP:0000478	Abnormality of the eye	25939	SAMHD1	ORPHA:51
HP:0000478	Abnormality of the eye	79621	RNASEH2B	ORPHA:51
HP:0000478	Abnormality of the eye	54704	PDP1	OMIM:608782
HP:0000478	Abnormality of the eye	8600	TNFSF11	OMIM:259710
HP:0000478	Abnormality of the eye	8600	TNFSF11	ORPHA:667
HP:0000478	Abnormality of the eye	10075	HUWE1	OMIM:309590
HP:0000478	Abnormality of the eye	8733	GPAA1	OMIM:617810
HP:0000478	Abnormality of the eye	8733	GPAA1	ORPHA:529665
HP:0000478	Abnormality of the eye	9150	CTDP1	OMIM:604168
HP:0000478	Abnormality of the eye	9150	CTDP1	ORPHA:48431
HP:0000478	Abnormality of the eye	8085	KMT2D	ORPHA:2322
HP:0000478	Abnormality of the eye	7403	KDM6A	ORPHA:2322
HP:0000478	Abnormality of the eye	7403	KDM6A	OMIM:300867
HP:0000478	Abnormality of the eye	57505	AARS2	OMIM:615889
HP:0000478	Abnormality of the eye	3778	KCNMA1	ORPHA:79137
HP:0000478	Abnormality of the eye	3778	KCNMA1	OMIM:618729
HP:0000478	Abnormality of the eye	23732	FRRS1L	OMIM:616981
HP:0000478	Abnormality of the eye	10560	SLC19A2	OMIM:249270
HP:0000478	Abnormality of the eye	6326	SCN2A	OMIM:618924
HP:0000478	Abnormality of the eye	4915	NTRK2	OMIM:617830
HP:0000478	Abnormality of the eye	4915	NTRK2	ORPHA:442835
HP:0000478	Abnormality of the eye	4358	MPV17	OMIM:256810
HP:0000478	Abnormality of the eye	3796	KIF2A	OMIM:615411
HP:0000478	Abnormality of the eye	91137	SLC25A46	OMIM:616505
HP:0000478	Abnormality of the eye	91137	SLC25A46	ORPHA:2254
HP:0000478	Abnormality of the eye	259232	NALCN	OMIM:615419
HP:0000478	Abnormality of the eye	259232	NALCN	ORPHA:371364
HP:0000478	Abnormality of the eye	51524	TMEM138	ORPHA:2318
HP:0000478	Abnormality of the eye	23090	ZNF423	ORPHA:2318
HP:0000478	Abnormality of the eye	55764	IFT122	OMIM:218330
HP:0000478	Abnormality of the eye	55764	IFT122	ORPHA:1515
HP:0000478	Abnormality of the eye	9750	RIPOR2	OMIM:616515
HP:0000478	Abnormality of the eye	9361	LONP1	ORPHA:1458
HP:0000478	Abnormality of the eye	8270	LAGE3	OMIM:301006
HP:0000478	Abnormality of the eye	64857	PLEKHG2	OMIM:616763
HP:0000478	Abnormality of the eye	26503	SLC17A5	OMIM:604369
HP:0000478	Abnormality of the eye	26503	SLC17A5	OMIM:269920
HP:0000478	Abnormality of the eye	2893	GRIA4	OMIM:617864
HP:0000478	Abnormality of the eye	60482	SLC5A7	ORPHA:98914
HP:0000478	Abnormality of the eye	4649	MYO9A	ORPHA:98914
HP:0000478	Abnormality of the eye	4649	MYO9A	OMIM:618198
HP:0000478	Abnormality of the eye	1305	COL13A1	ORPHA:98914
HP:0000478	Abnormality of the eye	1103	CHAT	ORPHA:98914
HP:0000478	Abnormality of the eye	375790	AGRN	ORPHA:98914
HP:0000478	Abnormality of the eye	6572	SLC18A3	ORPHA:98914
HP:0000478	Abnormality of the eye	6616	SNAP25	ORPHA:98914
HP:0000478	Abnormality of the eye	84628	NTNG2	OMIM:618718
HP:0000478	Abnormality of the eye	55967	NDUFA12	ORPHA:255241
HP:0000478	Abnormality of the eye	51204	TACO1	ORPHA:255241
HP:0000478	Abnormality of the eye	137682	NDUFAF6	ORPHA:255241
HP:0000478	Abnormality of the eye	5160	PDHA1	ORPHA:255241
HP:0000478	Abnormality of the eye	1355	COX15	ORPHA:255241
HP:0000478	Abnormality of the eye	1892	ECHS1	ORPHA:255241
HP:0000478	Abnormality of the eye	1892	ECHS1	OMIM:616277
HP:0000478	Abnormality of the eye	4705	NDUFA10	ORPHA:255241
HP:0000478	Abnormality of the eye	51601	LIPT1	ORPHA:255241
HP:0000478	Abnormality of the eye	4695	NDUFA2	ORPHA:255241
HP:0000478	Abnormality of the eye	4697	NDUFA4	ORPHA:255241
HP:0000478	Abnormality of the eye	4704	NDUFA9	ORPHA:255241
HP:0000478	Abnormality of the eye	652	BMP4	ORPHA:139471
HP:0000478	Abnormality of the eye	652	BMP4	OMIM:607932
HP:0000478	Abnormality of the eye	23247	KATNIP	OMIM:616784
HP:0000478	Abnormality of the eye	23247	KATNIP	ORPHA:475
HP:0000478	Abnormality of the eye	8139	GAN	OMIM:256850
HP:0000478	Abnormality of the eye	9851	KIAA0753	ORPHA:2754
HP:0000478	Abnormality of the eye	26123	TCTN3	ORPHA:2754
HP:0000478	Abnormality of the eye	317662	FAM149B1	ORPHA:2754
HP:0000478	Abnormality of the eye	374654	KIF7	ORPHA:2754
HP:0000478	Abnormality of the eye	374654	KIF7	OMIM:200990
HP:0000478	Abnormality of the eye	29925	GMPPB	ORPHA:363623
HP:0000478	Abnormality of the eye	29925	GMPPB	OMIM:615351
HP:0000478	Abnormality of the eye	29925	GMPPB	OMIM:615352
HP:0000478	Abnormality of the eye	8884	SLC5A6	OMIM:618973
HP:0000478	Abnormality of the eye	57647	DHX37	OMIM:618731
HP:0000478	Abnormality of the eye	4747	NEFL	OMIM:617882
HP:0000478	Abnormality of the eye	64221	ROBO3	ORPHA:2744
HP:0000478	Abnormality of the eye	64221	ROBO3	OMIM:607313
HP:0000478	Abnormality of the eye	1630	DCC	ORPHA:2744
HP:0000478	Abnormality of the eye	1630	DCC	ORPHA:478
HP:0000478	Abnormality of the eye	529	ATP6V1E1	OMIM:617402
HP:0000478	Abnormality of the eye	498	ATP5F1A	OMIM:615228
HP:0000478	Abnormality of the eye	2137	EXTL3	ORPHA:508533
HP:0000478	Abnormality of the eye	5274	SERPINI1	OMIM:604218
HP:0000478	Abnormality of the eye	23646	PLD3	OMIM:617770
HP:0000478	Abnormality of the eye	4099	MAG	OMIM:616680
HP:0000478	Abnormality of the eye	4099	MAG	ORPHA:459056
HP:0000478	Abnormality of the eye	10060	ABCC9	OMIM:619719
HP:0000478	Abnormality of the eye	57156	TMEM63C	OMIM:619966
HP:0000478	Abnormality of the eye	51098	IFT52	ORPHA:1515
HP:0000478	Abnormality of the eye	51098	IFT52	OMIM:617102
HP:0000478	Abnormality of the eye	10559	SLC35A1	OMIM:603585
HP:0000478	Abnormality of the eye	146057	TTBK2	OMIM:604432
HP:0000478	Abnormality of the eye	9289	ADGRG1	OMIM:606854
HP:0000478	Abnormality of the eye	9289	ADGRG1	ORPHA:98889
HP:0000478	Abnormality of the eye	2590	GALNT2	OMIM:618885
HP:0000478	Abnormality of the eye	816	CAMK2B	OMIM:617799
HP:0000478	Abnormality of the eye	8560	DEGS1	OMIM:618404
HP:0000478	Abnormality of the eye	83480	PUS3	ORPHA:488627
HP:0000478	Abnormality of the eye	7020	TFAP2A	OMIM:113620
HP:0000478	Abnormality of the eye	343641	TGM6	ORPHA:276193
HP:0000478	Abnormality of the eye	10715	CERS1	OMIM:616230
HP:0000478	Abnormality of the eye	54872	PIGG	ORPHA:280
HP:0000478	Abnormality of the eye	7469	NELFA	ORPHA:280
HP:0000478	Abnormality of the eye	283987	HID1	OMIM:619983
HP:0000478	Abnormality of the eye	9731	CEP104	OMIM:619988
HP:0000478	Abnormality of the eye	9731	CEP104	ORPHA:475
HP:0000478	Abnormality of the eye	3737	KCNA2	ORPHA:442835
HP:0000478	Abnormality of the eye	1759	DNM1	ORPHA:442835
HP:0000478	Abnormality of the eye	1759	DNM1	OMIM:620352
HP:0000478	Abnormality of the eye	8120	AP3B2	ORPHA:442835
HP:0000478	Abnormality of the eye	523	ATP6V1A	ORPHA:442835
HP:0000478	Abnormality of the eye	10991	SLC38A3	ORPHA:442835
HP:0000478	Abnormality of the eye	51343	FZR1	ORPHA:442835
HP:0000478	Abnormality of the eye	22906	TRAK1	ORPHA:442835
HP:0000478	Abnormality of the eye	1917	EEF1A2	ORPHA:442835
HP:0000478	Abnormality of the eye	8831	SYNGAP1	ORPHA:442835
HP:0000478	Abnormality of the eye	7532	YWHAG	ORPHA:442835
HP:0000478	Abnormality of the eye	79876	UBA5	ORPHA:442835
HP:0000478	Abnormality of the eye	2558	GABRA5	ORPHA:442835
HP:0000478	Abnormality of the eye	10659	CELF2	ORPHA:442835
HP:0000478	Abnormality of the eye	10659	CELF2	OMIM:619561
HP:0000478	Abnormality of the eye	1213	CLTC	ORPHA:442835
HP:0000478	Abnormality of the eye	23334	SZT2	ORPHA:442835
HP:0000478	Abnormality of the eye	51412	ACTL6B	ORPHA:442835
HP:0000478	Abnormality of the eye	348980	HCN1	ORPHA:442835
HP:0000478	Abnormality of the eye	6506	SLC1A2	ORPHA:442835
HP:0000478	Abnormality of the eye	8867	SYNJ1	ORPHA:442835
HP:0000478	Abnormality of the eye	2258	FGF13	ORPHA:442835
HP:0000478	Abnormality of the eye	3745	KCNB1	ORPHA:442835
HP:0000478	Abnormality of the eye	284111	SLC13A5	ORPHA:442835
HP:0000478	Abnormality of the eye	25977	NECAP1	ORPHA:442835
HP:0000478	Abnormality of the eye	22866	CNKSR2	ORPHA:442835
HP:0000478	Abnormality of the eye	9568	GABBR2	ORPHA:442835
HP:0000478	Abnormality of the eye	55152	DALRD3	ORPHA:442835
HP:0000478	Abnormality of the eye	26999	CYFIP2	ORPHA:442835
HP:0000478	Abnormality of the eye	23097	CDK19	ORPHA:442835
HP:0000478	Abnormality of the eye	64801	ARV1	ORPHA:442835
HP:0000478	Abnormality of the eye	3476	IGBP1	ORPHA:52055
HP:0000478	Abnormality of the eye	3476	IGBP1	OMIM:300472
HP:0000478	Abnormality of the eye	79600	TCTN1	ORPHA:475
HP:0000478	Abnormality of the eye	200894	ARL13B	ORPHA:475
HP:0000478	Abnormality of the eye	219844	HYLS1	ORPHA:475
HP:0000478	Abnormality of the eye	219854	TMEM218	ORPHA:475
HP:0000478	Abnormality of the eye	79867	TCTN2	ORPHA:475
HP:0000478	Abnormality of the eye	79867	TCTN2	OMIM:616654
HP:0000478	Abnormality of the eye	80776	B9D2	ORPHA:475
HP:0000478	Abnormality of the eye	10464	PIBF1	ORPHA:475
HP:0000478	Abnormality of the eye	80210	ARMC9	ORPHA:475
HP:0000478	Abnormality of the eye	25776	CBY1	ORPHA:475
HP:0000478	Abnormality of the eye	27077	B9D1	ORPHA:475
HP:0000478	Abnormality of the eye	3981	LIG4	ORPHA:235
HP:0000478	Abnormality of the eye	54888	NSUN2	ORPHA:235
HP:0000478	Abnormality of the eye	1947	EFNB1	OMIM:304110
HP:0000478	Abnormality of the eye	1182	CLCN3	OMIM:619512
HP:0000478	Abnormality of the eye	1182	CLCN3	OMIM:619517
HP:0000478	Abnormality of the eye	54914	FOCAD	OMIM:619991
HP:0000478	Abnormality of the eye	55699	IARS2	OMIM:616007
HP:0000478	Abnormality of the eye	54902	TTC19	OMIM:615157
HP:0000478	Abnormality of the eye	286	ANK1	ORPHA:251066
HP:0000478	Abnormality of the eye	56052	ALG1	ORPHA:79327
HP:0000478	Abnormality of the eye	4669	NAGLU	OMIM:616491
HP:0000478	Abnormality of the eye	84343	HPS3	OMIM:614072
HP:0000478	Abnormality of the eye	4849	CNOT3	OMIM:618672
HP:0000478	Abnormality of the eye	59336	PRDM13	OMIM:619761
HP:0000478	Abnormality of the eye	59336	PRDM13	OMIM:619909
HP:0000478	Abnormality of the eye	22	ABCB7	ORPHA:2802
HP:0000478	Abnormality of the eye	9338	TCEAL1	OMIM:301094
HP:0000478	Abnormality of the eye	2556	GABRA3	OMIM:301091
HP:0000478	Abnormality of the eye	85365	ALG2	OMIM:607906
HP:0000478	Abnormality of the eye	83938	LRMDA	OMIM:615179
HP:0000478	Abnormality of the eye	11152	WDR45	OMIM:615179
HP:0000478	Abnormality of the eye	6683	SPAST	OMIM:182601
HP:0000478	Abnormality of the eye	23189	KANK1	OMIM:612900
HP:0000478	Abnormality of the eye	404672	GTF2H5	ORPHA:33364
HP:0000478	Abnormality of the eye	7737	RNF113A	ORPHA:33364
HP:0000478	Abnormality of the eye	6897	TARS1	ORPHA:33364
HP:0000478	Abnormality of the eye	79053	ALG8	ORPHA:79325
HP:0000478	Abnormality of the eye	5587	PRKD1	OMIM:617364
HP:0000478	Abnormality of the eye	10371	SEMA3A	ORPHA:478
HP:0000478	Abnormality of the eye	81848	SPRY4	ORPHA:478
HP:0000478	Abnormality of the eye	23767	FLRT3	ORPHA:478
HP:0000478	Abnormality of the eye	79625	NDNF	ORPHA:478
HP:0000478	Abnormality of the eye	389549	FEZF1	ORPHA:478
HP:0000478	Abnormality of the eye	3730	ANOS1	ORPHA:478
HP:0000478	Abnormality of the eye	54756	IL17RD	ORPHA:478
HP:0000478	Abnormality of the eye	285025	CCDC141	ORPHA:478
HP:0000478	Abnormality of the eye	60675	PROK2	ORPHA:478
HP:0000478	Abnormality of the eye	1848	DUSP6	ORPHA:478
HP:0000478	Abnormality of the eye	6870	TACR3	ORPHA:478
HP:0000478	Abnormality of the eye	9394	HS6ST1	ORPHA:478
HP:0000478	Abnormality of the eye	8822	FGF17	ORPHA:478
HP:0000478	Abnormality of the eye	23111	SPART	OMIM:275900
HP:0000478	Abnormality of the eye	5087	PBX1	ORPHA:97362
HP:0000478	Abnormality of the eye	54892	NCAPG2	OMIM:618460
HP:0000478	Abnormality of the eye	51728	POLR3K	OMIM:619310
HP:0000478	Abnormality of the eye	85476	GFM1	OMIM:609060
HP:0000478	Abnormality of the eye	8675	STX16	ORPHA:94089
HP:0000478	Abnormality of the eye	29887	SNX10	ORPHA:667
HP:0000478	Abnormality of the eye	6548	SLC9A1	OMIM:616291
HP:0000478	Abnormality of the eye	26275	HIBCH	ORPHA:88639
HP:0000478	Abnormality of the eye	26275	HIBCH	OMIM:250620
HP:0000478	Abnormality of the eye	56521	DNAJC12	OMIM:617384
HP:0000478	Abnormality of the eye	1436	CSF1R	OMIM:618476
HP:0000478	Abnormality of the eye	54765	TRIM44	OMIM:617142
HP:0000478	Abnormality of the eye	54765	TRIM44	ORPHA:250923
HP:0000478	Abnormality of the eye	1062	CENPE	OMIM:616051
HP:0000478	Abnormality of the eye	8878	SQSTM1	OMIM:617145
HP:0000478	Abnormality of the eye	4081	MAB21L1	OMIM:618479
HP:0000478	Abnormality of the eye	2033	EP300	ORPHA:353284
HP:0000478	Abnormality of the eye	5010	CLDN11	OMIM:619328
HP:0000478	Abnormality of the eye	79944	L2HGDH	OMIM:236792
HP:0000478	Abnormality of the eye	22845	DOLK	OMIM:610768
HP:0000478	Abnormality of the eye	112812	FDX2	OMIM:251900
HP:0000478	Abnormality of the eye	8635	RNASET2	OMIM:612951
HP:0000478	Abnormality of the eye	668	FOXL2	OMIM:110100
HP:0000478	Abnormality of the eye	668	FOXL2	ORPHA:572333
HP:0000478	Abnormality of the eye	2132	EXT2	ORPHA:52022
HP:0000478	Abnormality of the eye	51317	PHF21A	ORPHA:52022
HP:0000478	Abnormality of the eye	128240	NAXE	OMIM:617186
HP:0000478	Abnormality of the eye	29123	ANKRD11	ORPHA:261250
HP:0000478	Abnormality of the eye	57704	GBA2	ORPHA:320391
HP:0000478	Abnormality of the eye	57704	GBA2	OMIM:614409
HP:0000478	Abnormality of the eye	57704	GBA2	ORPHA:352641
HP:0000478	Abnormality of the eye	627	BDNF	ORPHA:893
HP:0000478	Abnormality of the eye	6904	TBCD	OMIM:617193
HP:0000478	Abnormality of the eye	1387	CREBBP	ORPHA:353277
HP:0000478	Abnormality of the eye	22800	RRAS2	ORPHA:648
HP:0000478	Abnormality of the eye	867	CBL	ORPHA:648
HP:0000478	Abnormality of the eye	6016	RIT1	ORPHA:648
HP:0000478	Abnormality of the eye	6237	RRAS	ORPHA:648
HP:0000478	Abnormality of the eye	5894	RAF1	ORPHA:648
HP:0000478	Abnormality of the eye	22808	MRAS	ORPHA:648
HP:0000478	Abnormality of the eye	200734	SPRED2	ORPHA:648
HP:0000478	Abnormality of the eye	6654	SOS1	ORPHA:648
HP:0000478	Abnormality of the eye	5781	PTPN11	ORPHA:648
HP:0000478	Abnormality of the eye	5922	RASA2	ORPHA:648
HP:0000478	Abnormality of the eye	55074	OXR1	OMIM:213000
HP:0000478	Abnormality of the eye	3735	KARS1	OMIM:619147
HP:0000478	Abnormality of the eye	27072	VPS41	OMIM:619389
HP:0000478	Abnormality of the eye	3897	L1CAM	ORPHA:2182
HP:0000478	Abnormality of the eye	8665	EIF3F	OMIM:618295
HP:0000478	Abnormality of the eye	60481	ELOVL5	ORPHA:423296
HP:0000478	Abnormality of the eye	60481	ELOVL5	OMIM:615957
HP:0000478	Abnormality of the eye	10128	LRPPRC	OMIM:220111
HP:0000478	Abnormality of the eye	158	ADSL	OMIM:103050
HP:0000478	Abnormality of the eye	9131	AIFM1	OMIM:300232
HP:0000478	Abnormality of the eye	23769	FLRT1	ORPHA:320406
HP:0000478	Abnormality of the eye	64837	KLC2	ORPHA:320406
HP:0000478	Abnormality of the eye	64837	KLC2	OMIM:609541
HP:0000478	Abnormality of the eye	8496	PPFIBP1	OMIM:620024
HP:0000478	Abnormality of the eye	6091	ROBO1	OMIM:257400
HP:0000478	Abnormality of the eye	4983	OPHN1	OMIM:300486
HP:0000478	Abnormality of the eye	51218	GLRX5	ORPHA:401866
HP:0000478	Abnormality of the eye	51218	GLRX5	OMIM:616859
HP:0000478	Abnormality of the eye	1352	COX10	OMIM:619046
HP:0000478	Abnormality of the eye	100996717	NOTCH2NLC	ORPHA:2289
HP:0000478	Abnormality of the eye	23431	AP4E1	OMIM:613744
HP:0000478	Abnormality of the eye	7102	TSPAN7	OMIM:300210
HP:0000478	Abnormality of the eye	57492	ARID1B	OMIM:135900
HP:0000478	Abnormality of the eye	55037	PTCD3	OMIM:619057
HP:0000478	Abnormality of the eye	7276	TTR	OMIM:105210
HP:0000478	Abnormality of the eye	26090	ABHD12	OMIM:612674
HP:0000478	Abnormality of the eye	1600	DAB1	OMIM:615945
HP:0000478	Abnormality of the eye	10382	TUBB4A	OMIM:612438
HP:0000478	Abnormality of the eye	443	ASPA	OMIM:271900
HP:0000478	Abnormality of the eye	9255	AIMP1	OMIM:260600
HP:0000478	Abnormality of the eye	11340	EXOSC8	ORPHA:2254
HP:0000478	Abnormality of the eye	51010	EXOSC3	ORPHA:2254
HP:0000478	Abnormality of the eye	51010	EXOSC3	OMIM:614678
HP:0000478	Abnormality of the eye	7443	VRK1	ORPHA:2254
HP:0000478	Abnormality of the eye	285175	UNC80	OMIM:616801
HP:0000478	Abnormality of the eye	285175	UNC80	ORPHA:371364
HP:0000478	Abnormality of the eye	27286	SRPX2	ORPHA:98889
HP:0000478	Abnormality of the eye	10236	HNRNPR	OMIM:620073
HP:0000478	Abnormality of the eye	2521	FUS	ORPHA:300605
HP:0000478	Abnormality of the eye	10280	SIGMAR1	ORPHA:300605
HP:0000478	Abnormality of the eye	10558	SPTLC1	ORPHA:300605
HP:0000478	Abnormality of the eye	3187	HNRNPH1	OMIM:620083
HP:0000478	Abnormality of the eye	7846	TUBA1A	ORPHA:171680
HP:0000478	Abnormality of the eye	9968	MED12	OMIM:300895
HP:0000478	Abnormality of the eye	85021	REPS1	OMIM:617916
HP:0000478	Abnormality of the eye	84978	FRMD5	OMIM:620094
HP:0000478	Abnormality of the eye	51067	YARS2	OMIM:613561
HP:0000478	Abnormality of the eye	80199	FUZ	ORPHA:1136
HP:0000478	Abnormality of the eye	3329	HSPD1	OMIM:612233
HP:0000478	Abnormality of the eye	1959	EGR2	OMIM:145900
HP:0000478	Abnormality of the eye	57716	PRX	OMIM:145900
HP:0000478	Abnormality of the eye	9420	CYP7B1	ORPHA:100986
HP:0000478	Abnormality of the eye	9420	CYP7B1	OMIM:270800
HP:0000478	Abnormality of the eye	27249	MMADHC	OMIM:277410
HP:0000478	Abnormality of the eye	125988	MICOS13	ORPHA:67047
HP:0000478	Abnormality of the eye	2058	EPRS1	OMIM:617951
HP:0000478	Abnormality of the eye	57599	WDR48	ORPHA:401800
HP:0000478	Abnormality of the eye	1641	DCX	OMIM:300067
HP:0000478	Abnormality of the eye	9419	CRIPT	OMIM:615789
HP:0000478	Abnormality of the eye	27010	TPK1	OMIM:614458
HP:0000478	Abnormality of the eye	55644	OSGEP	OMIM:617729
HP:0000478	Abnormality of the eye	7874	USP7	ORPHA:500055
HP:0000478	Abnormality of the eye	51501	HIKESHI	OMIM:616881
HP:0000478	Abnormality of the eye	22934	RPIA	OMIM:608611
HP:0000478	Abnormality of the eye	26047	CNTNAP2	ORPHA:163681
HP:0000478	Abnormality of the eye	5500	PPP1CB	OMIM:617506
HP:0000478	Abnormality of the eye	9197	SLC33A1	OMIM:614482
HP:0000478	Abnormality of the eye	55023	PHIP	OMIM:617991
HP:0000478	Abnormality of the eye	22943	DKK1	ORPHA:268882
HP:0000478	Abnormality of the eye	6736	SRY	ORPHA:1772
HP:0000478	Abnormality of the eye	55753	OGDHL	OMIM:619701
HP:0000478	Abnormality of the eye	22868	FASTKD2	OMIM:618855
HP:0000478	Abnormality of the eye	5052	PRDX1	OMIM:277400
HP:0000478	Abnormality of the eye	267010	RNU12	ORPHA:512260
HP:0000478	Abnormality of the eye	5393	EXOSC9	OMIM:618065
HP:0000478	Abnormality of the eye	785	CACNB4	OMIM:613855
HP:0000478	Abnormality of the eye	785	CACNB4	ORPHA:211067
HP:0000478	Abnormality of the eye	55775	TDP1	ORPHA:94124
HP:0000478	Abnormality of the eye	6507	SLC1A3	ORPHA:209967
HP:0000478	Abnormality of the eye	55187	VPS13D	OMIM:607317
HP:0000478	Abnormality of the eye	219285	SAMD9L	OMIM:619806
HP:0000478	Abnormality of the eye	2895	GRID2	ORPHA:363432
HP:0000478	Abnormality of the eye	51741	WWOX	OMIM:614322
HP:0000478	Abnormality of the eye	7436	VLDLR	OMIM:224050
HP:0000478	Abnormality of the eye	54834	GDAP2	OMIM:618369
HP:0000478	Abnormality of the eye	10939	AFG3L2	OMIM:610246
HP:0000478	Abnormality of the eye	51271	UBAP1	OMIM:618418
HP:0000478	Abnormality of the eye	54840	APTX	OMIM:208920
HP:0000478	Abnormality of the eye	6908	TBP	OMIM:607136
HP:0000478	Abnormality of the eye	5173	PDYN	OMIM:610245
HP:0000478	Abnormality of the eye	7291	TWIST1	ORPHA:794
HP:0000478	Abnormality of the eye	22827	PUF60	ORPHA:508498
HP:0000478	Abnormality of the eye	9759	HDAC4	OMIM:619797
HP:0000478	Abnormality of the eye	3008	H1-4	OMIM:617537
HP:0000478	Abnormality of the eye	118987	PDZD8	OMIM:620021
HP:0000478	Abnormality of the eye	6595	SMARCA2	ORPHA:2728
HP:0000478	Abnormality of the eye	57589	RIC1	OMIM:618761
HP:0000478	Abnormality of the eye	81857	MED25	ORPHA:464738
HP:0000478	Abnormality of the eye	708	C1QBP	OMIM:617713
HP:0000478	Abnormality of the eye	1201	CLN3	ORPHA:228346
HP:0000478	Abnormality of the eye	2077	ERF	ORPHA:207
HP:0000478	Abnormality of the eye	9241	NOG	OMIM:186500
HP:0000478	Abnormality of the eye	23347	SMCHD1	ORPHA:2250
HP:0000478	Abnormality of the eye	10367	MICU1	OMIM:615673
HP:0000478	Abnormality of the eye	55617	TASP1	OMIM:618950
HP:0000478	Abnormality of the eye	51322	WAC	ORPHA:284169
HP:0000478	Abnormality of the eye	10717	AP4B1	ORPHA:280763
HP:0000478	Abnormality of the eye	9179	AP4M1	ORPHA:280763
HP:0000478	Abnormality of the eye	11154	AP4S1	ORPHA:280763
HP:0000478	Abnormality of the eye	7030	TFE3	OMIM:301066
HP:0000478	Abnormality of the eye	55084	SOBP	OMIM:613671
HP:0000478	Abnormality of the eye	6885	MAP3K7	ORPHA:1826
HP:0000478	Abnormality of the eye	9469	CHST3	OMIM:245600
HP:0000478	Abnormality of the eye	26229	B3GAT3	OMIM:245600
HP:0000478	Abnormality of the eye	1063	CENPF	OMIM:243605
HP:0000478	Abnormality of the eye	9896	FIG4	OMIM:216340
HP:0000478	Abnormality of the eye	9896	FIG4	ORPHA:3472
HP:0000478	Abnormality of the eye	55697	VAC14	ORPHA:3472
HP:0000478	Abnormality of the eye	91179	SCARF2	OMIM:600920
HP:0000478	Abnormality of the eye	10617	STAMBP	OMIM:614261
HP:0000478	Abnormality of the eye	51256	TBC1D7	OMIM:248000
HP:0000478	Abnormality of the eye	23446	SLC44A1	OMIM:618868
HP:0000478	Abnormality of the eye	201595	STT3B	OMIM:615597
HP:0000478	Abnormality of the eye	201595	STT3B	ORPHA:370924
HP:0000478	Abnormality of the eye	4897	NRCAM	OMIM:619833
HP:0000478	Abnormality of the eye	84334	COA8	ORPHA:436271
HP:0000478	Abnormality of the eye	8566	PDXK	OMIM:618511
HP:0000478	Abnormality of the eye	6536	SLC6A9	OMIM:617301
HP:0000478	Abnormality of the eye	6660	SOX5	ORPHA:313892
HP:0000478	Abnormality of the eye	6660	SOX5	OMIM:616803
HP:0000478	Abnormality of the eye	5105	PCK1	OMIM:261680
HP:0000478	Abnormality of the eye	55681	SCYL2	OMIM:618766
HP:0000478	Abnormality of the eye	10484	SEC23A	OMIM:607812
HP:0000478	Abnormality of the eye	22872	SEC31A	OMIM:618651
HP:0000478	Abnormality of the eye	83636	C19orf12	OMIM:614298
HP:0000478	Abnormality of the eye	83636	C19orf12	OMIM:615043
HP:0000478	Abnormality of the eye	388962	BOLA3	OMIM:614299
HP:0000478	Abnormality of the eye	8241	RBM10	OMIM:311900
HP:0000478	Abnormality of the eye	8241	RBM10	ORPHA:2886
HP:0000478	Abnormality of the eye	92609	TIMM50	OMIM:617698
HP:0000478	Abnormality of the eye	92609	TIMM50	ORPHA:505216
HP:0000478	Abnormality of the eye	150468	CKAP2L	OMIM:272440
HP:0000478	Abnormality of the eye	150468	CKAP2L	ORPHA:3255
HP:0000478	Abnormality of the eye	8818	DPM2	OMIM:615042
HP:0000478	Abnormality of the eye	8818	DPM2	ORPHA:329178
HP:0000478	Abnormality of the eye	10463	SLC30A9	OMIM:617595
HP:0000478	Abnormality of the eye	1967	EIF2B1	OMIM:603896
HP:0000478	Abnormality of the eye	10533	ATG7	OMIM:619422
HP:0000478	Abnormality of the eye	55656	INTS8	OMIM:618572
HP:0000478	Abnormality of the eye	8905	AP1S2	OMIM:304340
HP:0000478	Abnormality of the eye	4594	MMUT	ORPHA:79312
HP:0000478	Abnormality of the eye	4594	MMUT	ORPHA:289916
HP:0000478	Abnormality of the eye	4549	MT-RNR1	ORPHA:551
HP:0000478	Abnormality of the eye	4571	MT-TP	ORPHA:551
HP:0000478	Abnormality of the eye	4564	MT-TH	ORPHA:551
HP:0000478	Abnormality of the eye	4564	MT-TH	ORPHA:550
HP:0000478	Abnormality of the eye	3912	LAMB1	OMIM:615191
HP:0000478	Abnormality of the eye	3912	LAMB1	ORPHA:352682
HP:0000478	Abnormality of the eye	10785	WDR4	OMIM:618346
HP:0000478	Abnormality of the eye	160418	TMTC3	OMIM:617255
HP:0000478	Abnormality of the eye	846	CASR	ORPHA:428
HP:0000478	Abnormality of the eye	7084	TK2	ORPHA:254886
HP:0000478	Abnormality of the eye	23102	TBC1D2B	OMIM:619323
HP:0000478	Abnormality of the eye	8882	ZPR1	OMIM:619321
HP:0000478	Abnormality of the eye	154881	KCTD7	OMIM:611726
HP:0000478	Abnormality of the eye	154881	KCTD7	ORPHA:263516
HP:0000478	Abnormality of the eye	56915	EXOSC5	OMIM:619576
HP:0000478	Abnormality of the eye	549	AUH	OMIM:250950
HP:0000478	Abnormality of the eye	84314	TMEM107	ORPHA:564
HP:0000478	Abnormality of the eye	79770	TXNDC15	ORPHA:564
HP:0000478	Abnormality of the eye	23258	DENND5A	OMIM:617281
HP:0000478	Abnormality of the eye	84065	TMEM222	OMIM:619470
HP:0000478	Abnormality of the eye	526	ATP6V1B2	ORPHA:79500
HP:0000478	Abnormality of the eye	131118	DNAJC19	ORPHA:66634
HP:0000478	Abnormality of the eye	131118	DNAJC19	OMIM:610198
HP:0000478	Abnormality of the eye	51594	NBAS	OMIM:614800
HP:0000478	Abnormality of the eye	11043	MID2	OMIM:300928
HP:0000478	Abnormality of the eye	9897	WASHC5	ORPHA:7
HP:0000478	Abnormality of the eye	28952	CCDC22	ORPHA:7
HP:0000478	Abnormality of the eye	129285	PPP1R21	OMIM:619383
HP:0000478	Abnormality of the eye	1496	CTNNA2	OMIM:618174
HP:0000478	Abnormality of the eye	27445	PCLO	OMIM:608027
HP:0000478	Abnormality of the eye	10134	BCAP31	OMIM:300475
HP:0000478	Abnormality of the eye	10134	BCAP31	ORPHA:369939
HP:0000478	Abnormality of the eye	25821	MTO1	OMIM:614702
HP:0000478	Abnormality of the eye	2896	GRN	OMIM:614706
HP:0000478	Abnormality of the eye	9640	ZNF592	ORPHA:83472
HP:0000478	Abnormality of the eye	1757	SARDH	ORPHA:3129
HP:0000478	Abnormality of the eye	84947	SERAC1	OMIM:614739
HP:0000478	Abnormality of the eye	80025	PANK2	OMIM:234200
HP:0000478	Abnormality of the eye	80025	PANK2	ORPHA:216873
HP:0000478	Abnormality of the eye	8050	PDHX	OMIM:245349
HP:0000478	Abnormality of the eye	4256	MGP	ORPHA:85202
HP:0000478	Abnormality of the eye	471	ATIC	OMIM:608688
HP:0000478	Abnormality of the eye	6742	SSBP1	OMIM:165510
HP:0000478	Abnormality of the eye	55275	VPS53	OMIM:615851
HP:0000478	Abnormality of the eye	50628	GEMIN4	OMIM:617913
HP:0000478	Abnormality of the eye	81846	SBF2	ORPHA:99956
HP:0000478	Abnormality of the eye	22856	CHSY1	OMIM:605282
HP:0000478	Abnormality of the eye	22856	CHSY1	ORPHA:363417
HP:0000478	Abnormality of the eye	23590	PDSS1	OMIM:614651
HP:0000478	Abnormality of the eye	90417	KNSTRN	OMIM:613328
HP:0000478	Abnormality of the eye	5293	PIK3CD	OMIM:613328
HP:0000478	Abnormality of the eye	53616	ADAM22	OMIM:617933
HP:0000478	Abnormality of the eye	7473	WNT3	ORPHA:3301
HP:0000478	Abnormality of the eye	340419	RSPO2	ORPHA:3301
HP:0000478	Abnormality of the eye	998	CDC42	OMIM:616737
HP:0000478	Abnormality of the eye	998	CDC42	ORPHA:487796
HP:0000478	Abnormality of the eye	10342	TFG	ORPHA:431329
HP:0000478	Abnormality of the eye	10342	TFG	OMIM:615658
HP:0000478	Abnormality of the eye	9512	PMPCB	OMIM:617954
HP:0000478	Abnormality of the eye	64093	SMOC1	ORPHA:1106
HP:0000478	Abnormality of the eye	57511	COG6	OMIM:614576
HP:0000478	Abnormality of the eye	57572	DOCK6	OMIM:614219
HP:0000478	Abnormality of the eye	51124	IER3IP1	OMIM:614231
HP:0000478	Abnormality of the eye	55704	CCDC88A	OMIM:617507
HP:0000478	Abnormality of the eye	54676	GTPBP2	OMIM:617988
HP:0000478	Abnormality of the eye	5538	PPT1	OMIM:256730
HP:0000478	Abnormality of the eye	35	ACADS	ORPHA:26792
HP:0000478	Abnormality of the eye	410	ARSA	ORPHA:309271
HP:0000478	Abnormality of the eye	410	ARSA	ORPHA:309256
HP:0000478	Abnormality of the eye	410	ARSA	ORPHA:309263
HP:0000478	Abnormality of the eye	79751	SLC25A22	OMIM:609304
HP:0000478	Abnormality of the eye	10397	NDRG1	OMIM:601455
HP:0000478	Abnormality of the eye	56947	MFF	ORPHA:485421
HP:0000478	Abnormality of the eye	9181	ARHGEF2	OMIM:617523
HP:0000478	Abnormality of the eye	7841	MOGS	ORPHA:79330
HP:0000478	Abnormality of the eye	8803	SUCLA2	ORPHA:1933
HP:0000478	Abnormality of the eye	3908	LAMA2	ORPHA:258
HP:0000478	Abnormality of the eye	4854	NOTCH3	OMIM:125310
HP:0000478	Abnormality of the eye	353116	RILPL1	OMIM:619790
HP:0000478	Abnormality of the eye	4791	NFKB2	ORPHA:293978
HP:0000478	Abnormality of the eye	9698	PUM1	OMIM:617931
HP:0000478	Abnormality of the eye	4568	MT-TL2	ORPHA:663
HP:0000478	Abnormality of the eye	4570	MT-TN	ORPHA:663
HP:0000478	Abnormality of the eye	3736	KCNA1	ORPHA:37612
HP:0000478	Abnormality of the eye	7040	TGFB1	OMIM:131300
HP:0000478	Abnormality of the eye	23317	DNAJC13	ORPHA:411602
HP:0000478	Abnormality of the eye	1981	EIF4G1	ORPHA:411602
HP:0000478	Abnormality of the eye	55737	VPS35	ORPHA:411602
HP:0000478	Abnormality of the eye	120892	LRRK2	ORPHA:411602
HP:0000478	Abnormality of the eye	120892	LRRK2	ORPHA:2828
HP:0000478	Abnormality of the eye	26058	GIGYF2	ORPHA:411602
HP:0000478	Abnormality of the eye	6622	SNCA	ORPHA:411602
HP:0000478	Abnormality of the eye	6622	SNCA	ORPHA:2828
HP:0000478	Abnormality of the eye	7156	TOP3A	OMIM:618098
HP:0000478	Abnormality of the eye	54832	VPS13C	ORPHA:2828
HP:0000478	Abnormality of the eye	11315	PARK7	ORPHA:2828
HP:0000478	Abnormality of the eye	27429	HTRA2	ORPHA:2828
HP:0000478	Abnormality of the eye	9829	DNAJC6	ORPHA:2828
HP:0000478	Abnormality of the eye	5420	PODXL	ORPHA:2828
HP:0000478	Abnormality of the eye	65018	PINK1	ORPHA:2828
HP:0000478	Abnormality of the eye	5071	PRKN	ORPHA:2828
HP:0000478	Abnormality of the eye	1890	TYMP	OMIM:603041
HP:0000478	Abnormality of the eye	6329	SCN4A	ORPHA:99734
HP:0000478	Abnormality of the eye	6329	SCN4A	ORPHA:98913
HP:0000478	Abnormality of the eye	92667	MGME1	ORPHA:352447
HP:0000478	Abnormality of the eye	4665	NAB2	ORPHA:2126
HP:0000478	Abnormality of the eye	6778	STAT6	ORPHA:2126
HP:0000478	Abnormality of the eye	1134	CHRNA1	ORPHA:98913
HP:0000478	Abnormality of the eye	1140	CHRNB1	ORPHA:98913
HP:0000478	Abnormality of the eye	1144	CHRND	ORPHA:98913
HP:0000478	Abnormality of the eye	1145	CHRNE	ORPHA:98913
HP:0000478	Abnormality of the eye	4593	MUSK	ORPHA:98913
HP:0000478	Abnormality of the eye	5913	RAPSN	ORPHA:98913
HP:0000478	Abnormality of the eye	221264	AK9	ORPHA:98913
HP:0000478	Abnormality of the eye	285489	DOK7	ORPHA:98913
HP:0000478	Abnormality of the eye	3119	HLA-DQB1	OMIM:126200
HP:0000478	Abnormality of the eye	5133	PDCD1	OMIM:126200
HP:0000478	Abnormality of the eye	84720	PIGO	ORPHA:247262
HP:0000478	Abnormality of the eye	93210	PGAP3	ORPHA:247262
HP:0000478	Abnormality of the eye	284098	PIGW	ORPHA:247262
HP:0000478	Abnormality of the eye	55650	PIGV	ORPHA:247262
HP:0000478	Abnormality of the eye	3756	KCNH1	OMIM:135500
HP:0000478	Abnormality of the eye	6697	SPR	OMIM:612716
HP:0000478	Abnormality of the eye	8363	H4C11	OMIM:619759
HP:0000478	Abnormality of the eye	7305	TYROBP	ORPHA:2770
HP:0000478	Abnormality of the eye	54209	TREM2	ORPHA:2770
HP:0000478	Abnormality of the eye	54209	TREM2	ORPHA:1020
HP:0000478	Abnormality of the eye	22983	MAST1	OMIM:618273
HP:0000478	Abnormality of the eye	5663	PSEN1	ORPHA:1020
HP:0000478	Abnormality of the eye	5664	PSEN2	ORPHA:1020
HP:0000478	Abnormality of the eye	10452	TOMM40	ORPHA:1020
HP:0000478	Abnormality of the eye	351	APP	ORPHA:1020
HP:0000478	Abnormality of the eye	10347	ABCA7	ORPHA:1020
HP:0000478	Abnormality of the eye	6653	SORL1	ORPHA:1020
HP:0000478	Abnormality of the eye	22884	WDR37	OMIM:618652
HP:0000478	Abnormality of the eye	344	APOC2	OMIM:207750
HP:0000478	Abnormality of the eye	2538	G6PC1	OMIM:232200
HP:0000478	Abnormality of the eye	338328	GPIHBP1	OMIM:615947
HP:0000478	Abnormality of the eye	4023	LPL	OMIM:238600
HP:0000478	Abnormality of the eye	80270	HSD3B7	ORPHA:79301
HP:0000478	Abnormality of the eye	10749	KIF1C	ORPHA:397946
HP:0000478	Abnormality of the eye	10749	KIF1C	OMIM:611302
HP:0000478	Abnormality of the eye	92935	MARS2	OMIM:611390
HP:0000478	Abnormality of the eye	92935	MARS2	ORPHA:314603
HP:0000478	Abnormality of the eye	347734	SLC35B2	OMIM:620269
HP:0000478	Abnormality of the eye	3417	IDH1	ORPHA:99646
HP:0000478	Abnormality of the eye	4929	NR4A2	ORPHA:98808
HP:0000478	Abnormality of the eye	3615	IMPDH2	ORPHA:98808
HP:0000478	Abnormality of the eye	6182	MRPL12	OMIM:618951
HP:0000478	Abnormality of the eye	9474	ATG5	OMIM:617584
HP:0000478	Abnormality of the eye	2625	GATA3	OMIM:146255
HP:0000478	Abnormality of the eye	84274	COQ5	OMIM:619028
HP:0000478	Abnormality of the eye	6890	TAP1	OMIM:604571
HP:0000478	Abnormality of the eye	6891	TAP2	OMIM:604571
HP:0000478	Abnormality of the eye	6892	TAPBP	OMIM:604571
HP:0000478	Abnormality of the eye	4088	SMAD3	OMIM:613795
HP:0000478	Abnormality of the eye	7046	TGFBR1	OMIM:609192
HP:0000478	Abnormality of the eye	336	APOA2	OMIM:143890
HP:0000478	Abnormality of the eye	2053	EPHX2	OMIM:143890
HP:0000478	Abnormality of the eye	10842	PPP1R17	OMIM:143890
HP:0000478	Abnormality of the eye	2690	GHR	OMIM:143890
HP:0000478	Abnormality of the eye	3990	LIPC	OMIM:614025
HP:0000478	Abnormality of the eye	3590	IL11RA	OMIM:614188
HP:0000478	Abnormality of the eye	7386	UQCRFS1	OMIM:618775
HP:0000478	Abnormality of the eye	389692	MAFA	OMIM:147630
HP:0000478	Abnormality of the eye	124583	CANT1	OMIM:251450
HP:0000478	Abnormality of the eye	3758	KCNJ1	OMIM:241200
HP:0000478	Abnormality of the eye	3291	HSD11B2	ORPHA:320
HP:0000478	Abnormality of the eye	3291	HSD11B2	OMIM:218030
HP:0000478	Abnormality of the eye	2034	EPAS1	ORPHA:276621
HP:0000478	Abnormality of the eye	3141	HLCS	ORPHA:79242
HP:0000478	Abnormality of the eye	54941	RNF125	OMIM:616260
HP:0000478	Abnormality of the eye	6591	SNAI2	ORPHA:895
HP:0000478	Abnormality of the eye	6591	SNAI2	ORPHA:2884
HP:0000478	Abnormality of the eye	80153	EDC3	OMIM:616460
HP:0000478	Abnormality of the eye	3815	KIT	OMIM:172800
HP:0000478	Abnormality of the eye	3815	KIT	ORPHA:2884
HP:0000478	Abnormality of the eye	2591	GALNT3	OMIM:211900
HP:0000478	Abnormality of the eye	6609	SMPD1	OMIM:607616
HP:0000478	Abnormality of the eye	9382	COG1	ORPHA:263508
HP:0000478	Abnormality of the eye	1806	DPYD	ORPHA:1675
HP:0000478	Abnormality of the eye	406987	MIR204	OMIM:616722
HP:0000478	Abnormality of the eye	1161	ERCC8	ORPHA:90324
HP:0000478	Abnormality of the eye	1161	ERCC8	OMIM:216400
HP:0000478	Abnormality of the eye	1509	CTSD	OMIM:610127
HP:0000478	Abnormality of the eye	171023	ASXL1	ORPHA:97297
HP:0000478	Abnormality of the eye	284217	LAMA1	OMIM:615960
HP:0000478	Abnormality of the eye	284217	LAMA1	ORPHA:370022
HP:0000478	Abnormality of the eye	56623	INPP5E	ORPHA:75858
HP:0000478	Abnormality of the eye	760	CA2	ORPHA:2785
HP:0000478	Abnormality of the eye	63915	BLOC1S5	OMIM:619172
HP:0000478	Abnormality of the eye	8943	AP3D1	OMIM:617050
HP:0000478	Abnormality of the eye	8943	AP3D1	ORPHA:1000
HP:0000478	Abnormality of the eye	8943	AP3D1	ORPHA:54
HP:0000478	Abnormality of the eye	5590	PRKCZ	ORPHA:1606
HP:0000478	Abnormality of the eye	2563	GABRD	ORPHA:1606
HP:0000478	Abnormality of the eye	23013	SPEN	ORPHA:1606
HP:0000478	Abnormality of the eye	8510	MMP23B	ORPHA:1606
HP:0000478	Abnormality of the eye	7798	LUZP1	ORPHA:1606
HP:0000478	Abnormality of the eye	6497	SKI	ORPHA:1606
HP:0000478	Abnormality of the eye	10630	PDPN	ORPHA:1606
HP:0000478	Abnormality of the eye	3339	HSPG2	ORPHA:1606
HP:0000478	Abnormality of the eye	10277	UBE4B	ORPHA:1606
HP:0000478	Abnormality of the eye	8514	KCNAB2	ORPHA:1606
HP:0000478	Abnormality of the eye	63976	PRDM16	ORPHA:1606
HP:0000478	Abnormality of the eye	54897	CASZ1	ORPHA:1606
HP:0000478	Abnormality of the eye	8546	AP3B1	OMIM:608233
HP:0000478	Abnormality of the eye	4935	GPR143	ORPHA:54
HP:0000478	Abnormality of the eye	4935	GPR143	OMIM:300500
HP:0000478	Abnormality of the eye	89781	HPS4	OMIM:614073
HP:0000478	Abnormality of the eye	11234	HPS5	OMIM:614074
HP:0000478	Abnormality of the eye	26258	BLOC1S6	OMIM:614171
HP:0000478	Abnormality of the eye	79803	HPS6	OMIM:614075
HP:0000478	Abnormality of the eye	84062	DTNBP1	OMIM:614076
HP:0000478	Abnormality of the eye	4007	PRICKLE3	OMIM:308905
HP:0000478	Abnormality of the eye	26137	ZBTB20	OMIM:259050
HP:0000478	Abnormality of the eye	9445	ITM2B	OMIM:117300
HP:0000478	Abnormality of the eye	7431	VIM	OMIM:116300
HP:0000478	Abnormality of the eye	25974	MMACHC	ORPHA:79282
HP:0000478	Abnormality of the eye	4204	MECP2	OMIM:300055
HP:0000478	Abnormality of the eye	7053	TGM3	OMIM:617251
HP:0000478	Abnormality of the eye	84188	FAR1	ORPHA:438178
HP:0000478	Abnormality of the eye	6711	SPTBN1	OMIM:619475
HP:0000478	Abnormality of the eye	9401	RECQL4	ORPHA:221016
HP:0000478	Abnormality of the eye	112939	NACC1	ORPHA:500545
HP:0000478	Abnormality of the eye	221496	LEMD2	OMIM:212500
HP:0000478	Abnormality of the eye	64682	ANAPC1	OMIM:618625
HP:0000478	Abnormality of the eye	64682	ANAPC1	ORPHA:221008
HP:0000478	Abnormality of the eye	81031	SLC2A10	ORPHA:3342
HP:0000478	Abnormality of the eye	26191	PTPN22	ORPHA:397
HP:0000478	Abnormality of the eye	3106	HLA-B	ORPHA:397
HP:0000478	Abnormality of the eye	8974	P4HA2	ORPHA:397
HP:0000478	Abnormality of the eye	4352	MPL	ORPHA:71493
HP:0000478	Abnormality of the eye	7066	THPO	ORPHA:71493
HP:0000478	Abnormality of the eye	3717	JAK2	ORPHA:71493
HP:0000478	Abnormality of the eye	51816	ADA2	ORPHA:820
HP:0000478	Abnormality of the eye	10283	CWC27	ORPHA:166035
HP:0000478	Abnormality of the eye	4072	EPCAM	ORPHA:144
HP:0000478	Abnormality of the eye	4292	MLH1	ORPHA:144
HP:0000478	Abnormality of the eye	5395	PMS2	ORPHA:144
HP:0000478	Abnormality of the eye	27030	MLH3	ORPHA:144
HP:0000478	Abnormality of the eye	22909	FAN1	ORPHA:144
HP:0000478	Abnormality of the eye	7048	TGFBR2	ORPHA:144
HP:0000478	Abnormality of the eye	2956	MSH6	ORPHA:144
HP:0000478	Abnormality of the eye	5378	PMS1	ORPHA:144
HP:0000478	Abnormality of the eye	4436	MSH2	ORPHA:144
HP:0000478	Abnormality of the eye	200205	IBA57	ORPHA:468661
HP:0000478	Abnormality of the eye	200205	IBA57	OMIM:616451
HP:0000478	Abnormality of the eye	657	BMPR1A	ORPHA:440437
HP:0000478	Abnormality of the eye	6224	RPS20	ORPHA:440437
HP:0000478	Abnormality of the eye	4488	MSX2	OMIM:604757
HP:0000478	Abnormality of the eye	84196	USP48	ORPHA:96253
HP:0000478	Abnormality of the eye	7157	TP53	ORPHA:96253
HP:0000478	Abnormality of the eye	9101	USP8	ORPHA:96253
HP:0000478	Abnormality of the eye	2908	NR3C1	ORPHA:96253
HP:0000478	Abnormality of the eye	546	ATRX	ORPHA:96253
HP:0000478	Abnormality of the eye	2395	FXN	OMIM:229300
HP:0000478	Abnormality of the eye	4327	MMP19	OMIM:611543
HP:0000478	Abnormality of the eye	4166	CHST6	OMIM:217800
HP:0000478	Abnormality of the eye	4070	TACSTD2	OMIM:204870
HP:0000478	Abnormality of the eye	29914	UBIAD1	OMIM:121800
HP:0000478	Abnormality of the eye	1308	COL17A1	ORPHA:293381
HP:0000478	Abnormality of the eye	26007	TKFC	ORPHA:1369
HP:0000478	Abnormality of the eye	55750	AGK	ORPHA:1369
HP:0000478	Abnormality of the eye	23404	EXOSC2	OMIM:617763
HP:0000478	Abnormality of the eye	3859	KRT12	OMIM:122100
HP:0000478	Abnormality of the eye	4591	TRIM37	OMIM:253250
HP:0000478	Abnormality of the eye	84627	ZNF469	ORPHA:90354
HP:0000478	Abnormality of the eye	80781	COL18A1	OMIM:267750
HP:0000478	Abnormality of the eye	444	ASPH	OMIM:601552
HP:0000478	Abnormality of the eye	4016	LOXL1	OMIM:177650
HP:0000478	Abnormality of the eye	26610	ELP4	OMIM:617141
HP:0000478	Abnormality of the eye	55214	P3H2	OMIM:614292
HP:0000478	Abnormality of the eye	91851	CHRDL1	OMIM:309300
HP:0000478	Abnormality of the eye	6297	SALL2	OMIM:216820
HP:0000478	Abnormality of the eye	50964	SOST	OMIM:269500
HP:0000478	Abnormality of the eye	9371	KIF3B	OMIM:618955
HP:0000478	Abnormality of the eye	4942	OAT	ORPHA:414
HP:0000478	Abnormality of the eye	6452	SH3BP2	OMIM:118400
HP:0000478	Abnormality of the eye	326	AIRE	OMIM:240300
HP:0000478	Abnormality of the eye	8565	YARS1	OMIM:619418
HP:0000478	Abnormality of the eye	64834	ELOVL1	OMIM:618527
HP:0000478	Abnormality of the eye	84233	TMEM126A	OMIM:612989
HP:0000478	Abnormality of the eye	9653	HS2ST1	OMIM:619194
HP:0000478	Abnormality of the eye	3299	HSF4	OMIM:116800
HP:0000478	Abnormality of the eye	10682	EBP	OMIM:300960
HP:0000478	Abnormality of the eye	406960	MIR184	OMIM:614303
HP:0000478	Abnormality of the eye	1285	COL4A3	OMIM:104200
HP:0000478	Abnormality of the eye	57551	TAOK1	OMIM:619575
HP:0000478	Abnormality of the eye	1419	CRYGB	OMIM:615188
HP:0000478	Abnormality of the eye	89910	UBE3B	ORPHA:2707
HP:0000478	Abnormality of the eye	84168	ANTXR1	OMIM:230740
HP:0000478	Abnormality of the eye	1312	COMT	ORPHA:567
HP:0000478	Abnormality of the eye	221037	JMJD1C	ORPHA:567
HP:0000478	Abnormality of the eye	2812	GP1BB	ORPHA:567
HP:0000478	Abnormality of the eye	6239	RREB1	ORPHA:567
HP:0000478	Abnormality of the eye	6899	TBX1	ORPHA:567
HP:0000478	Abnormality of the eye	7290	HIRA	ORPHA:567
HP:0000478	Abnormality of the eye	9632	SEC24C	ORPHA:567
HP:0000478	Abnormality of the eye	7353	UFD1	ORPHA:567
HP:0000478	Abnormality of the eye	421	ARVCF	ORPHA:567
HP:0000478	Abnormality of the eye	1804	DPP6	ORPHA:2514
HP:0000478	Abnormality of the eye	84342	COG8	ORPHA:95428
HP:0000478	Abnormality of the eye	84342	COG8	OMIM:611182
HP:0000478	Abnormality of the eye	8777	MPDZ	OMIM:615219
HP:0000478	Abnormality of the eye	146167	SLC38A8	OMIM:609218
HP:0000478	Abnormality of the eye	9578	CDC42BPB	OMIM:619841
HP:0000478	Abnormality of the eye	5528	PPP2R5D	ORPHA:457279
HP:0000478	Abnormality of the eye	92255	LMBRD2	OMIM:619694
HP:0000478	Abnormality of the eye	3949	LDLR	ORPHA:391665
HP:0000478	Abnormality of the eye	255738	PCSK9	ORPHA:391665
HP:0000478	Abnormality of the eye	26119	LDLRAP1	ORPHA:391665
HP:0000478	Abnormality of the eye	338	APOB	ORPHA:391665
HP:0000478	Abnormality of the eye	64240	ABCG5	ORPHA:391665
HP:0000478	Abnormality of the eye	64241	ABCG8	ORPHA:391665
HP:0000478	Abnormality of the eye	3123	HLA-DRB1	OMIM:181000
HP:0000478	Abnormality of the eye	493856	CISD2	OMIM:604928
HP:0000478	Abnormality of the eye	91574	MTRFR	ORPHA:320375
HP:0000478	Abnormality of the eye	25828	TXN2	ORPHA:478029
HP:0000478	Abnormality of the eye	25828	TXN2	OMIM:616811
HP:0000478	Abnormality of the eye	51079	NDUFA13	OMIM:618249
HP:0000478	Abnormality of the eye	55717	WDR11	OMIM:620237
HP:0000478	Abnormality of the eye	686	BTD	ORPHA:79241
HP:0000478	Abnormality of the eye	10102	TSFM	OMIM:610505
HP:0000478	Abnormality of the eye	1969	EPHA2	OMIM:116600
HP:0000478	Abnormality of the eye	6299	SALL1	ORPHA:857
HP:0000478	Abnormality of the eye	51339	DACT1	ORPHA:857
HP:0000478	Abnormality of the eye	10992	SF3B2	OMIM:164210
HP:0000478	Abnormality of the eye	3257	HPS1	OMIM:203300
HP:0000478	Abnormality of the eye	4810	NHS	OMIM:302200
HP:0000478	Abnormality of the eye	10195	ALG3	OMIM:601110
HP:0000478	Abnormality of the eye	6809	STX3	OMIM:619446
HP:0000478	Abnormality of the eye	7466	WFS1	OMIM:614296
HP:0000478	Abnormality of the eye	1410	CRYAB	OMIM:613763
HP:0000478	Abnormality of the eye	1287	COL4A5	OMIM:301050
HP:0000478	Abnormality of the eye	2934	GSN	ORPHA:85448
HP:0000478	Abnormality of the eye	2934	GSN	OMIM:105120
HP:0000478	Abnormality of the eye	5981	RFC1	OMIM:614575
HP:0000478	Abnormality of the eye	4287	ATXN3	OMIM:109150
HP:0000478	Abnormality of the eye	1938	EEF2	OMIM:609306
HP:0000478	Abnormality of the eye	1938	EEF2	ORPHA:101112
HP:0000478	Abnormality of the eye	55703	POLR3B	OMIM:614381
HP:0000478	Abnormality of the eye	6310	ATXN1	OMIM:164400
HP:0000478	Abnormality of the eye	6311	ATXN2	OMIM:183090
HP:0000478	Abnormality of the eye	6812	STXBP1	OMIM:612164
HP:0000478	Abnormality of the eye	1200	TPP1	ORPHA:284324
HP:0000478	Abnormality of the eye	1200	TPP1	OMIM:609270
HP:0000478	Abnormality of the eye	55129	ANO10	ORPHA:284289
HP:0000478	Abnormality of the eye	8913	CACNA1G	ORPHA:458803
HP:0000478	Abnormality of the eye	8913	CACNA1G	OMIM:616795
HP:0000478	Abnormality of the eye	10273	STUB1	ORPHA:412057
HP:0000478	Abnormality of the eye	7515	XRCC1	OMIM:617633
HP:0000478	Abnormality of the eye	23533	PIK3R5	ORPHA:64753
HP:0000478	Abnormality of the eye	23064	SETX	ORPHA:64753
HP:0000478	Abnormality of the eye	23064	SETX	OMIM:606002
HP:0000478	Abnormality of the eye	57679	ALS2	OMIM:606353
HP:0000478	Abnormality of the eye	7345	UCHL1	OMIM:620221
HP:0000478	Abnormality of the eye	3752	KCND3	OMIM:607346
HP:0000478	Abnormality of the eye	23203	PMPCA	OMIM:213200
HP:0000478	Abnormality of the eye	57410	SCYL1	ORPHA:466794
HP:0000478	Abnormality of the eye	5582	PRKCG	ORPHA:98763
HP:0000478	Abnormality of the eye	1822	ATN1	ORPHA:101
HP:0000478	Abnormality of the eye	2332	FMR1	OMIM:300623
HP:0000478	Abnormality of the eye	81790	RNF170	OMIM:619686
HP:0000478	Abnormality of the eye	10935	PRDX3	OMIM:619862
HP:0000478	Abnormality of the eye	54664	TMEM106B	OMIM:617964
HP:0000478	Abnormality of the eye	80208	SPG11	ORPHA:2822
HP:0000478	Abnormality of the eye	2705	GJB1	ORPHA:1175
HP:0000478	Abnormality of the eye	492	ATP2B3	ORPHA:314978
HP:0000478	Abnormality of the eye	9711	RUBCN	OMIM:615705
HP:0000478	Abnormality of the eye	9711	RUBCN	ORPHA:404499
HP:0000478	Abnormality of the eye	246329	STAC3	ORPHA:168572
HP:0000478	Abnormality of the eye	29967	LRP12	OMIM:164310
HP:0000478	Abnormality of the eye	23479	ISCU	OMIM:255125
HP:0000478	Abnormality of the eye	51660	MPC1	OMIM:614741
HP:0000478	Abnormality of the eye	2671	GFER	ORPHA:330054
HP:0000478	Abnormality of the eye	55163	PNPO	OMIM:610090
HP:0000478	Abnormality of the eye	23095	KIF1B	OMIM:256700
HP:0000478	Abnormality of the eye	2783	GNB2	OMIM:619503
HP:0000478	Abnormality of the eye	84570	COL25A1	ORPHA:91411
HP:0000478	Abnormality of the eye	79776	ZFHX4	ORPHA:91411
HP:0000478	Abnormality of the eye	55503	TRPV6	OMIM:618188
HP:0000478	Abnormality of the eye	63901	FAM111A	ORPHA:93325
HP:0000478	Abnormality of the eye	64220	STRA6	OMIM:601186
HP:0000478	Abnormality of the eye	4646	MYO6	OMIM:607821
HP:0000478	Abnormality of the eye	4595	MUTYH	ORPHA:247798
HP:0000478	Abnormality of the eye	1738	DLD	ORPHA:2394
HP:0000478	Abnormality of the eye	113457	TUBA3D	OMIM:617928
HP:0000478	Abnormality of the eye	91869	RFT1	OMIM:612015
HP:0000478	Abnormality of the eye	201973	PRIMPOL	OMIM:615420
HP:0000478	Abnormality of the eye	55213	RCBTB1	OMIM:617175
HP:0000478	Abnormality of the eye	6522	SLC4A2	OMIM:620366
HP:0000478	Abnormality of the eye	55027	HEATR3	OMIM:620072
HP:0000478	Abnormality of the eye	6611	SMS	ORPHA:3063
HP:0000478	Abnormality of the eye	6650	CAPN15	OMIM:619318
HP:0000478	Abnormality of the eye	5309	PITX3	OMIM:107250
HP:0000478	Abnormality of the eye	3166	HMX1	OMIM:612109
HP:0000478	Abnormality of the eye	23389	MED13L	ORPHA:369891
HP:0000478	Abnormality of the eye	55714	TENM3	OMIM:615145
HP:0000478	Abnormality of the eye	875	CBS	ORPHA:394
HP:0000478	Abnormality of the eye	92840	REEP6	ORPHA:791
HP:0000478	Abnormality of the eye	6094	ROM1	ORPHA:791
HP:0000478	Abnormality of the eye	7401	CLRN1	ORPHA:791
HP:0000478	Abnormality of the eye	130557	ZNF513	ORPHA:791
HP:0000478	Abnormality of the eye	582	BBS1	ORPHA:791
HP:0000478	Abnormality of the eye	23568	ARL2BP	ORPHA:791
HP:0000478	Abnormality of the eye	54806	AHI1	ORPHA:791
HP:0000478	Abnormality of the eye	6101	RP1	ORPHA:791
HP:0000478	Abnormality of the eye	4751	NEK2	ORPHA:791
HP:0000478	Abnormality of the eye	346007	EYS	ORPHA:791
HP:0000478	Abnormality of the eye	8100	IFT88	ORPHA:791
HP:0000478	Abnormality of the eye	762	CA4	ORPHA:791
HP:0000478	Abnormality of the eye	138050	HGSNAT	ORPHA:791
HP:0000478	Abnormality of the eye	196	AHR	ORPHA:791
HP:0000478	Abnormality of the eye	3614	IMPDH1	ORPHA:791
HP:0000478	Abnormality of the eye	3614	IMPDH1	ORPHA:65
HP:0000478	Abnormality of the eye	123016	TTC8	ORPHA:791
HP:0000478	Abnormality of the eye	5148	PDE6G	ORPHA:791
HP:0000478	Abnormality of the eye	26160	IFT172	ORPHA:791
HP:0000478	Abnormality of the eye	26160	IFT172	ORPHA:474
HP:0000478	Abnormality of the eye	26121	PRPF31	ORPHA:791
HP:0000478	Abnormality of the eye	583	BBS2	ORPHA:791
HP:0000478	Abnormality of the eye	4117	MAK	ORPHA:791
HP:0000478	Abnormality of the eye	25794	FSCN2	ORPHA:791
HP:0000478	Abnormality of the eye	375298	CERKL	ORPHA:791
HP:0000478	Abnormality of the eye	3420	IDH3B	ORPHA:791
HP:0000478	Abnormality of the eye	23418	CRB1	ORPHA:791
HP:0000478	Abnormality of the eye	23418	CRB1	ORPHA:35612
HP:0000478	Abnormality of the eye	23418	CRB1	ORPHA:65
HP:0000478	Abnormality of the eye	10461	MERTK	ORPHA:791
HP:0000478	Abnormality of the eye	57709	SLC7A14	ORPHA:791
HP:0000478	Abnormality of the eye	768206	PRCD	ORPHA:791
HP:0000478	Abnormality of the eye	7399	USH2A	ORPHA:791
HP:0000478	Abnormality of the eye	23370	ARHGEF18	ORPHA:791
HP:0000478	Abnormality of the eye	5949	RBP3	ORPHA:791
HP:0000478	Abnormality of the eye	6010	RHO	ORPHA:791
HP:0000478	Abnormality of the eye	6010	RHO	ORPHA:215
HP:0000478	Abnormality of the eye	6100	RP9	ORPHA:791
HP:0000478	Abnormality of the eye	10002	NR2E3	ORPHA:791
HP:0000478	Abnormality of the eye	84140	FAM161A	ORPHA:791
HP:0000478	Abnormality of the eye	79797	ZNF408	ORPHA:791
HP:0000478	Abnormality of the eye	403	ARL3	ORPHA:791
HP:0000478	Abnormality of the eye	5145	PDE6A	ORPHA:791
HP:0000478	Abnormality of the eye	9128	PRPF4	ORPHA:791
HP:0000478	Abnormality of the eye	145226	RDH12	ORPHA:791
HP:0000478	Abnormality of the eye	145226	RDH12	ORPHA:65
HP:0000478	Abnormality of the eye	49855	SCAPER	ORPHA:791
HP:0000478	Abnormality of the eye	9742	IFT140	ORPHA:791
HP:0000478	Abnormality of the eye	9742	IFT140	ORPHA:474
HP:0000478	Abnormality of the eye	9742	IFT140	ORPHA:65
HP:0000478	Abnormality of the eye	2979	GUCA1B	ORPHA:791
HP:0000478	Abnormality of the eye	1259	CNGA1	ORPHA:791
HP:0000478	Abnormality of the eye	1258	CNGB1	ORPHA:791
HP:0000478	Abnormality of the eye	60509	AGBL5	ORPHA:791
HP:0000478	Abnormality of the eye	388939	PCARE	ORPHA:791
HP:0000478	Abnormality of the eye	9785	DHX38	ORPHA:791
HP:0000478	Abnormality of the eye	7287	TULP1	ORPHA:791
HP:0000478	Abnormality of the eye	7287	TULP1	ORPHA:65
HP:0000478	Abnormality of the eye	5995	RGR	ORPHA:791
HP:0000478	Abnormality of the eye	9129	PRPF3	ORPHA:791
HP:0000478	Abnormality of the eye	55975	KLHL7	ORPHA:791
HP:0000478	Abnormality of the eye	3617	IMPG1	ORPHA:791
HP:0000478	Abnormality of the eye	94137	RP1L1	ORPHA:791
HP:0000478	Abnormality of the eye	5158	PDE6B	ORPHA:791
HP:0000478	Abnormality of the eye	5158	PDE6B	ORPHA:215
HP:0000478	Abnormality of the eye	6102	RP2	ORPHA:791
HP:0000478	Abnormality of the eye	55857	KIZ	ORPHA:791
HP:0000478	Abnormality of the eye	64218	SEMA4A	ORPHA:791
HP:0000478	Abnormality of the eye	64218	SEMA4A	ORPHA:1872
HP:0000478	Abnormality of the eye	4901	NRL	ORPHA:791
HP:0000478	Abnormality of the eye	10594	PRPF8	ORPHA:791
HP:0000478	Abnormality of the eye	84100	ARL6	ORPHA:791
HP:0000478	Abnormality of the eye	6295	SAG	ORPHA:791
HP:0000478	Abnormality of the eye	6295	SAG	ORPHA:215
HP:0000478	Abnormality of the eye	79947	DHDDS	ORPHA:791
HP:0000478	Abnormality of the eye	6873	TAF2	ORPHA:397951
HP:0000478	Abnormality of the eye	63916	ELMO2	ORPHA:3019
HP:0000478	Abnormality of the eye	26504	CNNM4	ORPHA:1873
HP:0000478	Abnormality of the eye	64802	NMNAT1	ORPHA:1872
HP:0000478	Abnormality of the eye	64802	NMNAT1	ORPHA:65
HP:0000478	Abnormality of the eye	84839	RAX2	ORPHA:1872
HP:0000478	Abnormality of the eye	57096	RPGRIP1	ORPHA:1872
HP:0000478	Abnormality of the eye	57096	RPGRIP1	ORPHA:65
HP:0000478	Abnormality of the eye	5956	OPN1LW	ORPHA:1872
HP:0000478	Abnormality of the eye	5956	OPN1LW	ORPHA:16
HP:0000478	Abnormality of the eye	755	CFAP410	ORPHA:1872
HP:0000478	Abnormality of the eye	778	CACNA1F	ORPHA:1872
HP:0000478	Abnormality of the eye	778	CACNA1F	ORPHA:215
HP:0000478	Abnormality of the eye	8754	ADAM9	ORPHA:1872
HP:0000478	Abnormality of the eye	3000	GUCY2D	ORPHA:1872
HP:0000478	Abnormality of the eye	3000	GUCY2D	ORPHA:65
HP:0000478	Abnormality of the eye	22999	RIMS1	ORPHA:1872
HP:0000478	Abnormality of the eye	128338	DRAM2	ORPHA:1872
HP:0000478	Abnormality of the eye	2652	OPN1MW	ORPHA:1872
HP:0000478	Abnormality of the eye	2652	OPN1MW	ORPHA:16
HP:0000478	Abnormality of the eye	9094	UNC119	ORPHA:1872
HP:0000478	Abnormality of the eye	93589	CACNA2D4	ORPHA:1872
HP:0000478	Abnormality of the eye	93589	CACNA2D4	ORPHA:215
HP:0000478	Abnormality of the eye	2978	GUCA1A	ORPHA:1872
HP:0000478	Abnormality of the eye	2978	GUCA1A	ORPHA:1871
HP:0000478	Abnormality of the eye	282809	POC1B	ORPHA:1872
HP:0000478	Abnormality of the eye	83394	PITPNM3	ORPHA:1872
HP:0000478	Abnormality of the eye	23093	TTLL5	ORPHA:1872
HP:0000478	Abnormality of the eye	23746	AIPL1	ORPHA:1872
HP:0000478	Abnormality of the eye	23746	AIPL1	ORPHA:65
HP:0000478	Abnormality of the eye	9364	RAB28	ORPHA:1872
HP:0000478	Abnormality of the eye	22880	MORC2	ORPHA:466768
HP:0000478	Abnormality of the eye	1908	EDN3	ORPHA:897
HP:0000478	Abnormality of the eye	4286	MITF	ORPHA:897
HP:0000478	Abnormality of the eye	1910	EDNRB	ORPHA:897
HP:0000478	Abnormality of the eye	6663	SOX10	ORPHA:897
HP:0000478	Abnormality of the eye	65082	VPS33A	ORPHA:505248
HP:0000478	Abnormality of the eye	26022	TMEM98	ORPHA:35612
HP:0000478	Abnormality of the eye	6657	SOX2	ORPHA:35612
HP:0000478	Abnormality of the eye	220	ALDH1A3	ORPHA:35612
HP:0000478	Abnormality of the eye	646960	PRSS56	ORPHA:35612
HP:0000478	Abnormality of the eye	30062	RAX	ORPHA:35612
HP:0000478	Abnormality of the eye	5015	OTX2	ORPHA:35612
HP:0000478	Abnormality of the eye	4990	SIX6	ORPHA:35612
HP:0000478	Abnormality of the eye	6023	RMRP	ORPHA:175
HP:0000478	Abnormality of the eye	2068	ERCC2	ORPHA:1466
HP:0000478	Abnormality of the eye	2067	ERCC1	ORPHA:1466
HP:0000478	Abnormality of the eye	2074	ERCC6	ORPHA:1466
HP:0000478	Abnormality of the eye	2073	ERCC5	ORPHA:1466
HP:0000478	Abnormality of the eye	1130	LYST	ORPHA:167
HP:0000478	Abnormality of the eye	4547	MTTP	ORPHA:14
HP:0000478	Abnormality of the eye	7274	TTPA	ORPHA:96
HP:0000478	Abnormality of the eye	54476	RNF216	ORPHA:1173
HP:0000478	Abnormality of the eye	10908	PNPLA6	ORPHA:1173
HP:0000478	Abnormality of the eye	2202	EFEMP1	ORPHA:75376
HP:0000478	Abnormality of the eye	3075	CFH	ORPHA:75376
HP:0000478	Abnormality of the eye	3426	CFI	ORPHA:75376
HP:0000478	Abnormality of the eye	55112	DYNC2I1	ORPHA:474
HP:0000478	Abnormality of the eye	153241	CEP120	ORPHA:474
HP:0000478	Abnormality of the eye	57560	IFT80	ORPHA:474
HP:0000478	Abnormality of the eye	51626	DYNC2LI1	ORPHA:474
HP:0000478	Abnormality of the eye	79659	DYNC2H1	ORPHA:474
HP:0000478	Abnormality of the eye	57728	WDR19	ORPHA:474
HP:0000478	Abnormality of the eye	57728	WDR19	ORPHA:3156
HP:0000478	Abnormality of the eye	89891	DYNC2I2	ORPHA:474
HP:0000478	Abnormality of the eye	79809	TTC21B	ORPHA:474
HP:0000478	Abnormality of the eye	1499	CTNNB1	ORPHA:873
HP:0000478	Abnormality of the eye	324	APC	ORPHA:873
HP:0000478	Abnormality of the eye	3769	KCNJ13	ORPHA:65
HP:0000478	Abnormality of the eye	343035	RD3	ORPHA:65
HP:0000478	Abnormality of the eye	80184	CEP290	ORPHA:65
HP:0000478	Abnormality of the eye	80184	CEP290	ORPHA:3156
HP:0000478	Abnormality of the eye	10383	TUBB4B	ORPHA:65
HP:0000478	Abnormality of the eye	85015	USP45	ORPHA:65
HP:0000478	Abnormality of the eye	9657	IQCB1	ORPHA:65
HP:0000478	Abnormality of the eye	9657	IQCB1	ORPHA:3156
HP:0000478	Abnormality of the eye	392255	GDF6	ORPHA:65
HP:0000478	Abnormality of the eye	6197	RPS6KA3	ORPHA:192
HP:0000478	Abnormality of the eye	157680	VPS13B	ORPHA:193
HP:0000478	Abnormality of the eye	7486	WRN	ORPHA:902
HP:0000478	Abnormality of the eye	63895	PIEZO2	OMIM:108145
HP:0000478	Abnormality of the eye	5184	PEPD	ORPHA:742
HP:0000478	Abnormality of the eye	5728	PTEN	ORPHA:744
HP:0000478	Abnormality of the eye	1121	CHM	ORPHA:180
HP:0000478	Abnormality of the eye	4982	TNFRSF11B	ORPHA:2801
HP:0000478	Abnormality of the eye	8792	TNFRSF11A	ORPHA:2801
HP:0000478	Abnormality of the eye	1356	CP	ORPHA:48818
HP:0000478	Abnormality of the eye	4308	TRPM1	ORPHA:215
HP:0000478	Abnormality of the eye	57010	CABP4	ORPHA:215
HP:0000478	Abnormality of the eye	345193	LRIT3	ORPHA:215
HP:0000478	Abnormality of the eye	2916	GRM6	ORPHA:215
HP:0000478	Abnormality of the eye	440435	GPR179	ORPHA:215
HP:0000478	Abnormality of the eye	6011	GRK1	ORPHA:215
HP:0000478	Abnormality of the eye	9187	SLC24A1	ORPHA:215
HP:0000478	Abnormality of the eye	2784	GNB3	ORPHA:215
HP:0000478	Abnormality of the eye	2779	GNAT1	ORPHA:215
HP:0000478	Abnormality of the eye	60506	NYX	ORPHA:215
HP:0000478	Abnormality of the eye	5264	PHYH	ORPHA:773
HP:0000478	Abnormality of the eye	5191	PEX7	ORPHA:773
HP:0000478	Abnormality of the eye	149461	CLDN19	ORPHA:2196
HP:0000478	Abnormality of the eye	85378	TUBGCP6	ORPHA:2518
HP:0000478	Abnormality of the eye	85378	TUBGCP6	OMIM:251270
HP:0000478	Abnormality of the eye	27229	TUBGCP4	ORPHA:2518
HP:0000478	Abnormality of the eye	10733	PLK4	ORPHA:2518
HP:0000478	Abnormality of the eye	100151683	RNU4ATAC	ORPHA:1824
HP:0000478	Abnormality of the eye	22930	RAB3GAP1	ORPHA:2510
HP:0000478	Abnormality of the eye	22931	RAB18	ORPHA:2510
HP:0000478	Abnormality of the eye	128637	TBC1D20	ORPHA:2510
HP:0000478	Abnormality of the eye	201163	FLCN	ORPHA:122
HP:0000478	Abnormality of the eye	3030	HADHA	ORPHA:5
HP:0000478	Abnormality of the eye	4509	MT-ATP8	ORPHA:480
HP:0000478	Abnormality of the eye	4567	MT-TL1	ORPHA:480
HP:0000478	Abnormality of the eye	50484	RRM2B	ORPHA:480
HP:0000478	Abnormality of the eye	9990	SLC12A6	ORPHA:1496
HP:0000478	Abnormality of the eye	57724	EPG5	ORPHA:1493
HP:0000478	Abnormality of the eye	26146	TRAF3IP1	ORPHA:3156
HP:0000478	Abnormality of the eye	10806	SDCCAG8	ORPHA:3156
HP:0000478	Abnormality of the eye	27130	INVS	ORPHA:3156
HP:0000478	Abnormality of the eye	4867	NPHP1	ORPHA:3156
HP:0000478	Abnormality of the eye	261734	NPHP4	ORPHA:3156
HP:0000478	Abnormality of the eye	27031	NPHP3	ORPHA:3156
HP:0000478	Abnormality of the eye	22897	CEP164	ORPHA:3156
HP:0000478	Abnormality of the eye	4157	MC1R	ORPHA:79432
HP:0000478	Abnormality of the eye	4948	OCA2	ORPHA:79432
HP:0000478	Abnormality of the eye	7299	TYR	ORPHA:79434
HP:0000478	Abnormality of the eye	51151	SLC45A2	ORPHA:79435
HP:0000478	Abnormality of the eye	1001	CDH3	ORPHA:1897
HP:0000478	Abnormality of the eye	7355	SLC35A2	ORPHA:356961
HP:0000478	Abnormality of the eye	29968	PSAT1	ORPHA:284417
HP:0000478	Abnormality of the eye	6513	SLC2A1	OMIM:606777
HP:0000478	Abnormality of the eye	6513	SLC2A1	ORPHA:71277
HP:0000478	Abnormality of the eye	25915	NDUFAF3	ORPHA:2609
HP:0000478	Abnormality of the eye	51103	NDUFAF1	ORPHA:2609
HP:0000478	Abnormality of the eye	91942	NDUFAF2	ORPHA:2609
HP:0000478	Abnormality of the eye	51300	TIMMDC1	ORPHA:2609
HP:0000478	Abnormality of the eye	4716	NDUFB10	ORPHA:2609
HP:0000478	Abnormality of the eye	4723	NDUFV1	ORPHA:2609
HP:0000478	Abnormality of the eye	55572	FOXRED1	ORPHA:2609
HP:0000478	Abnormality of the eye	284184	NDUFAF8	ORPHA:2609
HP:0000478	Abnormality of the eye	55863	TMEM126B	ORPHA:2609
HP:0000478	Abnormality of the eye	4535	MT-ND1	ORPHA:2609
HP:0000478	Abnormality of the eye	4537	MT-ND3	ORPHA:2609
HP:0000478	Abnormality of the eye	4729	NDUFV2	ORPHA:2609
HP:0000478	Abnormality of the eye	4694	NDUFA1	ORPHA:2609
HP:0000478	Abnormality of the eye	4720	NDUFS2	ORPHA:2609
HP:0000478	Abnormality of the eye	4726	NDUFS6	ORPHA:2609
HP:0000478	Abnormality of the eye	4728	NDUFS8	ORPHA:2609
HP:0000478	Abnormality of the eye	4722	NDUFS3	ORPHA:2609
HP:0000478	Abnormality of the eye	79133	NDUFAF5	ORPHA:2609
HP:0000478	Abnormality of the eye	126328	NDUFA11	ORPHA:2609
HP:0000478	Abnormality of the eye	4709	NDUFB3	ORPHA:2609
HP:0000478	Abnormality of the eye	80224	NUBPL	ORPHA:2609
HP:0000478	Abnormality of the eye	29078	NDUFAF4	ORPHA:2609
HP:0000478	Abnormality of the eye	374291	NDUFS7	ORPHA:2609
HP:0000478	Abnormality of the eye	4700	NDUFA6	ORPHA:2609
HP:0000478	Abnormality of the eye	4536	MT-ND2	ORPHA:2609
HP:0000478	Abnormality of the eye	4719	NDUFS1	ORPHA:2609
HP:0000478	Abnormality of the eye	4715	NDUFB9	ORPHA:2609
HP:0000478	Abnormality of the eye	84504	NKX6-2	ORPHA:527497
HP:0000478	Abnormality of the eye	4796	TONSL	ORPHA:93357
HP:0000478	Abnormality of the eye	1634	DCN	OMIM:610048
HP:0000478	Abnormality of the eye	8314	BAP1	ORPHA:2495
HP:0000478	Abnormality of the eye	4771	NF2	ORPHA:2495
HP:0000478	Abnormality of the eye	6598	SMARCB1	ORPHA:2495
HP:0000478	Abnormality of the eye	84231	TRAF7	ORPHA:2495
HP:0000478	Abnormality of the eye	6608	SMO	ORPHA:2495
HP:0000478	Abnormality of the eye	207	AKT1	ORPHA:2495
HP:0000478	Abnormality of the eye	5290	PIK3CA	ORPHA:2495
HP:0000478	Abnormality of the eye	7015	TERT	ORPHA:2495
HP:0000478	Abnormality of the eye	51684	SUFU	ORPHA:2495
HP:0000478	Abnormality of the eye	6605	SMARCE1	ORPHA:2495
HP:0000478	Abnormality of the eye	88	ACTN2	OMIM:618654
HP:0000478	Abnormality of the eye	8930	MBD4	OMIM:619975
HP:0000478	Abnormality of the eye	8930	MBD4	OMIM:606660
HP:0000478	Abnormality of the eye	6794	STK11	OMIM:155600
HP:0000478	Abnormality of the eye	673	BRAF	OMIM:155600
HP:0000478	Abnormality of the eye	8626	TP63	ORPHA:69085
HP:0000478	Abnormality of the eye	4140	MARK3	OMIM:618283
HP:0000478	Abnormality of the eye	7042	TGFB2	OMIM:614816
HP:0000478	Abnormality of the eye	11107	PRDM5	OMIM:614170
HP:0000478	Abnormality of the eye	7439	BEST1	OMIM:611809
HP:0000478	Abnormality of the eye	10210	TOPORS	OMIM:609923
HP:0000478	Abnormality of the eye	7840	ALMS1	ORPHA:64
HP:0000478	Abnormality of the eye	22926	ATF6	ORPHA:49382
HP:0000478	Abnormality of the eye	5146	PDE6C	ORPHA:49382
HP:0000478	Abnormality of the eye	6103	RPGR	ORPHA:49382
HP:0000478	Abnormality of the eye	6103	RPGR	OMIM:304020
HP:0000478	Abnormality of the eye	5149	PDE6H	ORPHA:49382
HP:0000478	Abnormality of the eye	2780	GNAT2	ORPHA:49382
HP:0000478	Abnormality of the eye	1261	CNGA3	ORPHA:49382
HP:0000478	Abnormality of the eye	54714	CNGB3	ORPHA:49382
HP:0000478	Abnormality of the eye	54714	CNGB3	ORPHA:827
HP:0000478	Abnormality of the eye	83723	TLCD3B	OMIM:619531
HP:0000478	Abnormality of the eye	112752	IFT43	OMIM:617871
HP:0000478	Abnormality of the eye	7275	TUB	OMIM:616188
HP:0000478	Abnormality of the eye	285440	CYP4V2	ORPHA:41751
HP:0000478	Abnormality of the eye	8842	PROM1	OMIM:608051
HP:0000478	Abnormality of the eye	8842	PROM1	ORPHA:827
HP:0000478	Abnormality of the eye	6785	ELOVL4	ORPHA:827
HP:0000478	Abnormality of the eye	24	ABCA4	ORPHA:827
HP:0000478	Abnormality of the eye	24	ABCA4	OMIM:601718
HP:0000478	Abnormality of the eye	51109	RDH11	OMIM:616108
HP:0000478	Abnormality of the eye	6247	RS1	OMIM:312700
HP:0000478	Abnormality of the eye	1406	CRX	OMIM:120970
HP:0000478	Abnormality of the eye	224	ALDH3A2	OMIM:270200
HP:0000478	Abnormality of the eye	9227	LRAT	ORPHA:364055
HP:0000478	Abnormality of the eye	55812	SPATA7	ORPHA:364055
HP:0000478	Abnormality of the eye	6121	RPE65	ORPHA:364055
HP:0000478	Abnormality of the eye	167691	LCA5	ORPHA:364055
HP:0000478	Abnormality of the eye	8481	OFD1	OMIM:300424
HP:0000478	Abnormality of the eye	6017	RLBP1	ORPHA:85128
HP:0000478	Abnormality of the eye	50939	IMPG2	OMIM:613581
HP:0000478	Abnormality of the eye	83552	MFRP	OMIM:611040
HP:0000478	Abnormality of the eye	92211	CDHR1	OMIM:613660
HP:0000478	Abnormality of the eye	24148	PRPF6	OMIM:613983
HP:0000478	Abnormality of the eye	3419	IDH3A	OMIM:619007
HP:0000478	Abnormality of the eye	7078	TIMP3	ORPHA:59181
HP:0000478	Abnormality of the eye	57670	KIAA1549	OMIM:618613
HP:0000478	Abnormality of the eye	23020	SNRNP200	OMIM:610359
HP:0000478	Abnormality of the eye	51095	TRNT1	OMIM:616959
HP:0000478	Abnormality of the eye	1462	VCAN	OMIM:143200
HP:0000478	Abnormality of the eye	79955	PDZD7	ORPHA:231178
HP:0000478	Abnormality of the eye	4647	MYO7A	ORPHA:231178
HP:0000478	Abnormality of the eye	4647	MYO7A	ORPHA:231169
HP:0000478	Abnormality of the eye	25861	WHRN	ORPHA:231178
HP:0000478	Abnormality of the eye	84059	ADGRV1	ORPHA:231178
HP:0000478	Abnormality of the eye	7681	MKRN3	OMIM:176270
HP:0000478	Abnormality of the eye	3653	IPW	OMIM:176270
HP:0000478	Abnormality of the eye	54551	MAGEL2	OMIM:176270
HP:0000478	Abnormality of the eye	54551	MAGEL2	ORPHA:98754
HP:0000478	Abnormality of the eye	54551	MAGEL2	ORPHA:177904
HP:0000478	Abnormality of the eye	54551	MAGEL2	ORPHA:177901
HP:0000478	Abnormality of the eye	54551	MAGEL2	ORPHA:177910
HP:0000478	Abnormality of the eye	791114	PWRN1	OMIM:176270
HP:0000478	Abnormality of the eye	100033413	SNORD116-1	OMIM:176270
HP:0000478	Abnormality of the eye	8924	HERC2	OMIM:176270
HP:0000478	Abnormality of the eye	145624	PWAR1	OMIM:176270
HP:0000478	Abnormality of the eye	23742	NPAP1	OMIM:176270
HP:0000478	Abnormality of the eye	338433	SNORD115-1	OMIM:176270
HP:0000478	Abnormality of the eye	3035	HARS1	ORPHA:231183
HP:0000478	Abnormality of the eye	4692	NDN	ORPHA:98754
HP:0000478	Abnormality of the eye	4692	NDN	ORPHA:177904
HP:0000478	Abnormality of the eye	4692	NDN	ORPHA:177901
HP:0000478	Abnormality of the eye	4692	NDN	ORPHA:177910
HP:0000478	Abnormality of the eye	7337	UBE3A	ORPHA:98794
HP:0000478	Abnormality of the eye	7337	UBE3A	ORPHA:98795
HP:0000478	Abnormality of the eye	7337	UBE3A	ORPHA:411511
HP:0000478	Abnormality of the eye	7337	UBE3A	ORPHA:411515
HP:0000478	Abnormality of the eye	284058	KANSL1	OMIM:610443
HP:0000478	Abnormality of the eye	10083	USH1C	ORPHA:231169
HP:0000478	Abnormality of the eye	124590	USH1G	ORPHA:231169
HP:0000478	Abnormality of the eye	83715	ESPN	ORPHA:231169
HP:0000478	Abnormality of the eye	10518	CIB2	ORPHA:231169
HP:0000478	Abnormality of the eye	65217	PCDH15	ORPHA:231169
HP:0000478	Abnormality of the eye	57194	ATP10A	ORPHA:411515
HP:0000478	Abnormality of the eye	5873	RAB27A	ORPHA:79477
HP:0000478	Abnormality of the eye	79083	MLPH	ORPHA:79478
HP:0000478	Abnormality of the eye	54903	MKS1	OMIM:615990
HP:0000478	Abnormality of the eye	54585	LZTFL1	OMIM:615994
HP:0000478	Abnormality of the eye	23761	PISD	OMIM:618889
HP:0000478	Abnormality of the eye	23155	CLCC1	OMIM:609913
HP:0000478	Abnormality of the eye	27241	BBS9	OMIM:615986
HP:0000478	Abnormality of the eye	2562	GABRB3	ORPHA:64280
HP:0000478	Abnormality of the eye	2554	GABRA1	ORPHA:64280
HP:0000478	Abnormality of the eye	8912	CACNA1H	ORPHA:64280
HP:0000478	Abnormality of the eye	8629	JRK	ORPHA:64280
HP:0000478	Abnormality of the eye	2566	GABRG2	ORPHA:64280
HP:0000478	Abnormality of the eye	135	ADORA2A	ORPHA:363549
HP:0000478	Abnormality of the eye	283652	SLC24A5	OMIM:113750
HP:0000478	Abnormality of the eye	7360	UGP2	OMIM:618744
HP:0000478	Abnormality of the eye	92154	MTSS2	OMIM:620086
HP:0000478	Abnormality of the eye	1638	DCT	OMIM:619165
HP:0000478	Abnormality of the eye	93426	SYCE1	OMIM:616947
HP:0000478	Abnormality of the eye	4556	MT-TE	ORPHA:225
HP:0000478	Abnormality of the eye	4644	MYO5A	ORPHA:33445
HP:0000478	Abnormality of the eye	256471	MFSD8	OMIM:616170
HP:0000478	Abnormality of the eye	92002	CCNQ	ORPHA:140952
HP:0000478	Abnormality of the eye	129880	BBS5	OMIM:615983
HP:0000478	Abnormality of the eye	6309	SC5D	ORPHA:46059
HP:0000478	Abnormality of the eye	6309	SC5D	OMIM:607330
HP:0000478	Abnormality of the eye	2588	GALNS	OMIM:253000
HP:0000478	Abnormality of the eye	84942	WDR73	OMIM:251300
HP:0000478	Abnormality of the eye	335	APOA1	ORPHA:425
HP:0000478	Abnormality of the eye	6720	SREBF1	OMIM:158310
HP:0000478	Abnormality of the eye	2312	FLG	ORPHA:461
HP:0000478	Abnormality of the eye	51715	RAB23	OMIM:201000
HP:0000478	Abnormality of the eye	100506658	OCLN	OMIM:251290
HP:0000478	Abnormality of the eye	79158	GNPTAB	OMIM:252500
HP:0000478	Abnormality of the eye	79158	GNPTAB	OMIM:252600
HP:0000478	Abnormality of the eye	84572	GNPTG	OMIM:252605
HP:0000478	Abnormality of the eye	3977	LIFR	OMIM:601559
HP:0000478	Abnormality of the eye	338917	VSX2	OMIM:610093
HP:0000478	Abnormality of the eye	4914	NTRK1	OMIM:256800
HP:0000478	Abnormality of the eye	6399	TRAPPC2	OMIM:313400
HP:0000478	Abnormality of the eye	7490	WT1	OMIM:106210
HP:0000478	Abnormality of the eye	2658	GDF2	ORPHA:774
HP:0000478	Abnormality of the eye	94	ACVRL1	ORPHA:774
HP:0000478	Abnormality of the eye	4089	SMAD4	ORPHA:774
HP:0000478	Abnormality of the eye	2483	FRG1	OMIM:158900
HP:0000478	Abnormality of the eye	29072	SETD2	OMIM:620157
HP:0000478	Abnormality of the eye	29072	SETD2	OMIM:620155
HP:0000478	Abnormality of the eye	79991	STN1	OMIM:617341
HP:0000478	Abnormality of the eye	5111	PCNA	ORPHA:438134
HP:0000478	Abnormality of the eye	8820	HESX1	OMIM:182230
HP:0000478	Abnormality of the eye	3192	HNRNPU	ORPHA:238769
HP:0000478	Abnormality of the eye	79644	SRD5A3	ORPHA:324737
HP:0000478	Abnormality of the eye	9342	SNAP29	OMIM:609528
HP:0000478	Abnormality of the eye	54802	TRIT1	OMIM:617873
HP:0000478	Abnormality of the eye	2187	FANCB	OMIM:300514
HP:0000478	Abnormality of the eye	55770	EXOC2	OMIM:619306
HP:0000478	Abnormality of the eye	5361	PLXNA1	OMIM:619955
HP:0000478	Abnormality of the eye	23259	DDHD2	ORPHA:320380
HP:0000478	Abnormality of the eye	9573	GDF3	OMIM:613703
HP:0000478	Abnormality of the eye	4784	NFIX	ORPHA:420179
HP:0000478	Abnormality of the eye	415	ARSL	ORPHA:79345
HP:0000478	Abnormality of the eye	4750	NEK1	ORPHA:2751
HP:0000478	Abnormality of the eye	3708	ITPR1	OMIM:606658
HP:0000478	Abnormality of the eye	5621	PRNP	OMIM:137440
HP:0000478	Abnormality of the eye	7518	XRCC4	OMIM:616541
HP:0000478	Abnormality of the eye	23345	SYNE1	ORPHA:88644
HP:0000478	Abnormality of the eye	255928	SYT14	OMIM:614229
HP:0000478	Abnormality of the eye	54974	THG1L	OMIM:618800
HP:0000478	Abnormality of the eye	51259	TMEM216	OMIM:608091
HP:0000478	Abnormality of the eye	5048	PAFAH1B1	ORPHA:95232
HP:0000478	Abnormality of the eye	4361	MRE11	OMIM:604391
HP:0000478	Abnormality of the eye	724066	ATXN8	ORPHA:98760
HP:0000478	Abnormality of the eye	724066	ATXN8	OMIM:608768
HP:0000478	Abnormality of the eye	6315	ATXN8OS	ORPHA:98760
HP:0000478	Abnormality of the eye	6315	ATXN8OS	OMIM:608768
HP:0000478	Abnormality of the eye	25814	ATXN10	ORPHA:98761
HP:0000478	Abnormality of the eye	25814	ATXN10	OMIM:603516
HP:0000478	Abnormality of the eye	5162	PDHB	ORPHA:255138
HP:0000478	Abnormality of the eye	6712	SPTBN2	OMIM:600224
HP:0000478	Abnormality of the eye	10528	NOP56	OMIM:614153
HP:0000478	Abnormality of the eye	10352	WARS2	ORPHA:572798
HP:0000478	Abnormality of the eye	2259	FGF14	OMIM:193003
HP:0000478	Abnormality of the eye	3781	KCNN2	OMIM:619724
HP:0000478	Abnormality of the eye	3703	STT3A	ORPHA:370921
HP:0000478	Abnormality of the eye	1298	COL9A2	OMIM:614284
HP:0000478	Abnormality of the eye	1298	COL9A2	ORPHA:250984
HP:0000478	Abnormality of the eye	84695	LOXL3	ORPHA:250984
HP:0000478	Abnormality of the eye	3982	LIM2	OMIM:615277
HP:0000478	Abnormality of the eye	64132	XYLT2	OMIM:605822
HP:0000478	Abnormality of the eye	83932	SPRTN	OMIM:616200
HP:0000478	Abnormality of the eye	170692	ADAMTS18	OMIM:615458
HP:0000478	Abnormality of the eye	128866	CHMP4B	OMIM:605387
HP:0000478	Abnormality of the eye	7555	CNBP	OMIM:602668
HP:0000478	Abnormality of the eye	146862	UNC45B	OMIM:616279
HP:0000478	Abnormality of the eye	5062	PAK2	OMIM:618458
HP:0000478	Abnormality of the eye	80207	OPA3	ORPHA:67036
HP:0000478	Abnormality of the eye	889	KRIT1	OMIM:116860
HP:0000478	Abnormality of the eye	29894	CPSF1	OMIM:618827
HP:0000478	Abnormality of the eye	4043	LRPAP1	OMIM:615431
HP:0000478	Abnormality of the eye	4683	NBN	OMIM:251260
HP:0000478	Abnormality of the eye	4329	ALDH6A1	OMIM:614105
HP:0000478	Abnormality of the eye	8449	DHX16	OMIM:618733
HP:0000478	Abnormality of the eye	4627	MYH9	ORPHA:182050
HP:0000478	Abnormality of the eye	4507	MTAP	OMIM:112250
HP:0000478	Abnormality of the eye	22854	NTNG1	ORPHA:3095
HP:0000478	Abnormality of the eye	3560	IL2RB	ORPHA:85410
HP:0000478	Abnormality of the eye	79722	ANKRD55	ORPHA:85410
HP:0000478	Abnormality of the eye	919	CD247	ORPHA:85410
HP:0000478	Abnormality of the eye	3559	IL2RA	ORPHA:85410
HP:0000478	Abnormality of the eye	5771	PTPN2	ORPHA:85410
HP:0000478	Abnormality of the eye	8419	BFSP2	OMIM:611597
HP:0000478	Abnormality of the eye	10755	GIPC1	ORPHA:98897
HP:0000478	Abnormality of the eye	59	ACTA2	OMIM:613834
HP:0000478	Abnormality of the eye	286053	NSMCE2	ORPHA:436182
HP:0000478	Abnormality of the eye	726	CAPN5	OMIM:193235
HP:0000478	Abnormality of the eye	5624	PROC	OMIM:612304
HP:0000478	Abnormality of the eye	5925	RB1	OMIM:180200
HP:0000478	Abnormality of the eye	23137	SMC5	OMIM:620185
HP:0000478	Abnormality of the eye	4653	MYOC	OMIM:137750
HP:0000478	Abnormality of the eye	2296	FOXC1	OMIM:601631
HP:0000478	Abnormality of the eye	170691	ADAMTS17	OMIM:613195
HP:0000478	Abnormality of the eye	113189	CHST14	ORPHA:2953
HP:0000478	Abnormality of the eye	29940	DSE	ORPHA:2953
HP:0000478	Abnormality of the eye	2335	FN1	ORPHA:93315
HP:0000478	Abnormality of the eye	4010	LMX1B	ORPHA:2614
HP:0000478	Abnormality of the eye	136371	ASB10	OMIM:603383
HP:0000478	Abnormality of the eye	4774	NFIA	ORPHA:401986
HP:0000478	Abnormality of the eye	169792	GLIS3	OMIM:610199
HP:0000478	Abnormality of the eye	23516	SLC39A14	OMIM:144755
HP:0000478	Abnormality of the eye	3479	IGF1	ORPHA:73272
HP:0000478	Abnormality of the eye	1593	CYP27A1	ORPHA:909
HP:0000478	Abnormality of the eye	26278	SACS	ORPHA:98
HP:0000478	Abnormality of the eye	26278	SACS	OMIM:270550
HP:0000478	Abnormality of the eye	79152	FA2H	ORPHA:329308
HP:0000478	Abnormality of the eye	9927	MFN2	OMIM:601152
HP:0000478	Abnormality of the eye	4538	MT-ND4	ORPHA:104
HP:0000478	Abnormality of the eye	4508	MT-ATP6	ORPHA:104
HP:0000478	Abnormality of the eye	4539	MT-ND4L	ORPHA:104
HP:0000478	Abnormality of the eye	2581	GALC	OMIM:245200
HP:0000478	Abnormality of the eye	401	PHOX2A	OMIM:602078
HP:0000478	Abnormality of the eye	55605	KIF21A	OMIM:135700
HP:0000478	Abnormality of the eye	5456	POU3F4	ORPHA:1435
HP:0000478	Abnormality of the eye	347733	TUBB2B	OMIM:610031
HP:0000478	Abnormality of the eye	3295	HSD17B4	OMIM:233400
HP:0000478	Abnormality of the eye	9997	SCO2	OMIM:604377
HP:0000478	Abnormality of the eye	9997	SCO2	ORPHA:70474
HP:0000478	Abnormality of the eye	8292	COLQ	ORPHA:98915
HP:0000478	Abnormality of the eye	203547	VMA21	OMIM:310440
HP:0000478	Abnormality of the eye	11261	CHP1	OMIM:618438
HP:0000478	Abnormality of the eye	6843	VAMP1	OMIM:618323
HP:0000478	Abnormality of the eye	127833	SYT2	OMIM:619461
HP:0000478	Abnormality of the eye	4714	NDUFB8	ORPHA:70474
HP:0000478	Abnormality of the eye	6834	SURF1	ORPHA:70474
HP:0000478	Abnormality of the eye	339453	TMEM240	ORPHA:98773
HP:0000478	Abnormality of the eye	7003	TEAD1	OMIM:108985
HP:0000478	Abnormality of the eye	8518	ELP1	ORPHA:1764
HP:0000478	Abnormality of the eye	23556	PIGN	ORPHA:2059
HP:0000478	Abnormality of the eye	5832	ALDH18A1	OMIM:616603
HP:0000478	Abnormality of the eye	5832	ALDH18A1	ORPHA:90348
HP:0000478	Abnormality of the eye	145173	B3GLCT	ORPHA:709
HP:0000478	Abnormality of the eye	4693	NDP	OMIM:310600
HP:0000478	Abnormality of the eye	4693	NDP	ORPHA:91495
HP:0000478	Abnormality of the eye	4693	NDP	ORPHA:649
HP:0000478	Abnormality of the eye	220202	ATOH7	ORPHA:91495
HP:0000478	Abnormality of the eye	220202	ATOH7	OMIM:221900
HP:0000478	Abnormality of the eye	8322	FZD4	ORPHA:91495
HP:0000478	Abnormality of the eye	80144	FRAS1	OMIM:219000
HP:0000478	Abnormality of the eye	126792	B3GALT6	OMIM:609465
HP:0000478	Abnormality of the eye	4758	NEU1	ORPHA:93399
HP:0000478	Abnormality of the eye	4758	NEU1	ORPHA:812
HP:0000478	Abnormality of the eye	4758	NEU1	ORPHA:93400
HP:0000478	Abnormality of the eye	411	ARSB	OMIM:253200
HP:0000478	Abnormality of the eye	7045	TGFBI	ORPHA:98964
HP:0000478	Abnormality of the eye	7045	TGFBI	OMIM:608470
HP:0000478	Abnormality of the eye	55593	OTUD5	OMIM:301056
HP:0000478	Abnormality of the eye	4125	MAN2B1	ORPHA:309282
HP:0000478	Abnormality of the eye	4125	MAN2B1	ORPHA:309288
HP:0000478	Abnormality of the eye	83959	SLC4A11	ORPHA:293603
HP:0000478	Abnormality of the eye	83959	SLC4A11	ORPHA:1490
HP:0000478	Abnormality of the eye	83959	SLC4A11	ORPHA:98974
HP:0000478	Abnormality of the eye	54101	RIPK4	ORPHA:1234
HP:0000478	Abnormality of the eye	6905	TBCE	ORPHA:2323
HP:0000478	Abnormality of the eye	10413	YAP1	ORPHA:1473
HP:0000478	Abnormality of the eye	5080	PAX6	ORPHA:137902
HP:0000478	Abnormality of the eye	5080	PAX6	OMIM:120200
HP:0000478	Abnormality of the eye	4952	OCRL	ORPHA:534
HP:0000478	Abnormality of the eye	29954	POMT2	OMIM:236670
HP:0000478	Abnormality of the eye	29954	POMT2	ORPHA:899
HP:0000478	Abnormality of the eye	9215	LARGE1	OMIM:236670
HP:0000478	Abnormality of the eye	9215	LARGE1	ORPHA:899
HP:0000478	Abnormality of the eye	79147	FKRP	OMIM:236670
HP:0000478	Abnormality of the eye	79147	FKRP	ORPHA:899
HP:0000478	Abnormality of the eye	79147	FKRP	OMIM:613153
HP:0000478	Abnormality of the eye	10585	POMT1	OMIM:236670
HP:0000478	Abnormality of the eye	10585	POMT1	ORPHA:899
HP:0000478	Abnormality of the eye	2218	FKTN	OMIM:236670
HP:0000478	Abnormality of the eye	2218	FKTN	ORPHA:899
HP:0000478	Abnormality of the eye	84892	POMGNT2	ORPHA:899
HP:0000478	Abnormality of the eye	148789	B3GALNT2	ORPHA:899
HP:0000478	Abnormality of the eye	1282	COL4A1	ORPHA:899
HP:0000478	Abnormality of the eye	1282	COL4A1	OMIM:175780
HP:0000478	Abnormality of the eye	729920	CRPPA	ORPHA:899
HP:0000478	Abnormality of the eye	10329	RXYLT1	ORPHA:899
HP:0000478	Abnormality of the eye	1605	DAG1	ORPHA:899
HP:0000478	Abnormality of the eye	11041	B4GAT1	ORPHA:899
HP:0000478	Abnormality of the eye	84197	POMK	ORPHA:899
HP:0000478	Abnormality of the eye	55624	POMGNT1	ORPHA:899
HP:0000478	Abnormality of the eye	427	ASAH1	ORPHA:333
HP:0000478	Abnormality of the eye	5980	REV3L	ORPHA:570
HP:0000478	Abnormality of the eye	23129	PLXND1	ORPHA:570
HP:0000478	Abnormality of the eye	51360	MBTPS2	ORPHA:2273
HP:0000478	Abnormality of the eye	10584	COLEC10	OMIM:248340
HP:0000478	Abnormality of the eye	1545	CYP1B1	OMIM:617315
HP:0000478	Abnormality of the eye	3423	IDS	ORPHA:217085
HP:0000478	Abnormality of the eye	3423	IDS	ORPHA:217093
HP:0000478	Abnormality of the eye	5155	PDGFB	ORPHA:1980
HP:0000478	Abnormality of the eye	9213	XPR1	ORPHA:1980
HP:0000478	Abnormality of the eye	5159	PDGFRB	ORPHA:1980
HP:0000478	Abnormality of the eye	5159	PDGFRB	OMIM:601812
HP:0000478	Abnormality of the eye	57462	MYORG	ORPHA:1980
HP:0000478	Abnormality of the eye	6575	SLC20A2	ORPHA:1980
HP:0000478	Abnormality of the eye	58494	JAM2	ORPHA:1980
HP:0000478	Abnormality of the eye	412	STS	ORPHA:281090
HP:0000478	Abnormality of the eye	27151	CPAMD8	OMIM:617319
HP:0000478	Abnormality of the eye	2260	FGFR1	ORPHA:2396
HP:0000478	Abnormality of the eye	3845	KRAS	ORPHA:2396
HP:0000478	Abnormality of the eye	3845	KRAS	OMIM:163200
HP:0000478	Abnormality of the eye	1147	CHUK	OMIM:619339
HP:0000478	Abnormality of the eye	2717	GLA	ORPHA:324
HP:0000478	Abnormality of the eye	4323	MMP14	OMIM:277950
HP:0000478	Abnormality of the eye	54539	NDUFB11	ORPHA:2556
HP:0000478	Abnormality of the eye	1349	COX7B	ORPHA:2556
HP:0000478	Abnormality of the eye	3052	HCCS	ORPHA:2556
HP:0000478	Abnormality of the eye	6768	ST14	OMIM:602400
HP:0000478	Abnormality of the eye	6898	TAT	ORPHA:28378
HP:0000478	Abnormality of the eye	9184	BUB3	ORPHA:1052
HP:0000478	Abnormality of the eye	699	BUB1	ORPHA:1052
HP:0000478	Abnormality of the eye	9702	CEP57	ORPHA:1052
HP:0000478	Abnormality of the eye	9319	TRIP13	ORPHA:1052
HP:0000478	Abnormality of the eye	701	BUB1B	ORPHA:1052
HP:0000478	Abnormality of the eye	4053	LTBP2	OMIM:613086
HP:0000478	Abnormality of the eye	2720	GLB1	OMIM:253010
HP:0000478	Abnormality of the eye	4041	LRP5	ORPHA:2788
HP:0000478	Abnormality of the eye	1301	COL11A1	ORPHA:90654
HP:0000478	Abnormality of the eye	93627	TBCK	ORPHA:488632
HP:0000478	Abnormality of the eye	2301	FOXE3	OMIM:610256
HP:0000478	Abnormality of the eye	3425	IDUA	OMIM:607014
HP:0000478	Abnormality of the eye	3425	IDUA	OMIM:607016
HP:0000478	Abnormality of the eye	3425	IDUA	OMIM:607015
HP:0000478	Abnormality of the eye	3425	IDUA	ORPHA:93474
HP:0000478	Abnormality of the eye	3425	IDUA	ORPHA:93473
HP:0000478	Abnormality of the eye	3425	IDUA	ORPHA:93476
HP:0000478	Abnormality of the eye	2697	GJA1	ORPHA:317
HP:0000478	Abnormality of the eye	2707	GJB3	ORPHA:317
HP:0000478	Abnormality of the eye	2531	KDSR	ORPHA:317
HP:0000478	Abnormality of the eye	127534	GJB4	ORPHA:317
HP:0000478	Abnormality of the eye	9487	PIGL	ORPHA:3474
HP:0000478	Abnormality of the eye	11081	KERA	OMIM:217300
HP:0000478	Abnormality of the eye	5476	CTSA	ORPHA:351
HP:0000478	Abnormality of the eye	55768	NGLY1	OMIM:615273
HP:0000478	Abnormality of the eye	64840	PORCN	ORPHA:2092
HP:0000478	Abnormality of the eye	1296	COL8A2	OMIM:609140
HP:0000478	Abnormality of the eye	1296	COL8A2	ORPHA:98973
HP:0000478	Abnormality of the eye	1296	COL8A2	ORPHA:98974
HP:0000478	Abnormality of the eye	4519	MT-CYB	ORPHA:137675
HP:0000478	Abnormality of the eye	6804	STX1A	ORPHA:904
HP:0000478	Abnormality of the eye	7461	CLIP2	ORPHA:904
HP:0000478	Abnormality of the eye	84277	DNAJC30	ORPHA:904
HP:0000478	Abnormality of the eye	8468	FKBP6	ORPHA:904
HP:0000478	Abnormality of the eye	5982	RFC2	ORPHA:904
HP:0000478	Abnormality of the eye	2969	GTF2I	ORPHA:904
HP:0000478	Abnormality of the eye	3984	LIMK1	ORPHA:904
HP:0000478	Abnormality of the eye	9569	GTF2IRD1	ORPHA:904
HP:0000478	Abnormality of the eye	155382	VPS37D	ORPHA:904
HP:0000478	Abnormality of the eye	155368	METTL27	ORPHA:904
HP:0000478	Abnormality of the eye	114049	BUD23	ORPHA:904
HP:0000478	Abnormality of the eye	7458	EIF4H	ORPHA:904
HP:0000478	Abnormality of the eye	84163	GTF2IRD2	ORPHA:904
HP:0000478	Abnormality of the eye	9275	BCL7B	ORPHA:904
HP:0000478	Abnormality of the eye	26608	TBL2	ORPHA:904
HP:0000478	Abnormality of the eye	653361	NCF1	ORPHA:904
HP:0000478	Abnormality of the eye	135886	TMEM270	ORPHA:904
HP:0000478	Abnormality of the eye	51085	MLXIPL	ORPHA:904
HP:0000478	Abnormality of the eye	9031	BAZ1B	ORPHA:904
HP:0000478	Abnormality of the eye	2006	ELN	ORPHA:904
HP:0000478	Abnormality of the eye	2006	ELN	ORPHA:90348
HP:0000478	Abnormality of the eye	4893	NRAS	OMIM:163200
HP:0000478	Abnormality of the eye	3265	HRAS	OMIM:163200
HP:0000478	Abnormality of the eye	1859	DYRK1A	ORPHA:464311
HP:0000478	Abnormality of the eye	2517	FUCA1	ORPHA:349
HP:0000478	Abnormality of the eye	285362	SUMF1	OMIM:272200
HP:0000478	Abnormality of the eye	285362	SUMF1	ORPHA:585
HP:0000478	Abnormality of the eye	8517	IKBKG	ORPHA:464
HP:0000478	Abnormality of the eye	2990	GUSB	ORPHA:584
HP:0000478	Abnormality of the eye	2990	GUSB	OMIM:253220
HP:0000478	Abnormality of the eye	4000	LMNA	ORPHA:740
HP:0000478	Abnormality of the eye	10269	ZMPSTE24	ORPHA:740
HP:0000478	Abnormality of the eye	55210	ATAD3A	ORPHA:496790
HP:0000478	Abnormality of the eye	55210	ATAD3A	OMIM:617183
HP:0000478	Abnormality of the eye	162514	TRPV3	OMIM:614594
HP:0000478	Abnormality of the eye	5130	PCYT1A	ORPHA:85167
HP:0000478	Abnormality of the eye	50485	SMARCAL1	ORPHA:1830
HP:0000478	Abnormality of the eye	6925	TCF4	OMIM:613267
HP:0000478	Abnormality of the eye	6925	TCF4	ORPHA:98974
HP:0000478	Abnormality of the eye	3931	LCAT	ORPHA:79292
HP:0000478	Abnormality of the eye	57192	MCOLN1	ORPHA:578
HP:0000478	Abnormality of the eye	57192	MCOLN1	OMIM:252650
HP:0000478	Abnormality of the eye	11128	POLR3A	ORPHA:3455
HP:0000478	Abnormality of the eye	19	ABCA1	ORPHA:31150
HP:0000478	Abnormality of the eye	7837	PXDN	OMIM:269400
HP:0000478	Abnormality of the eye	5295	PIK3R1	ORPHA:3163
HP:0000478	Abnormality of the eye	5331	PLCB3	OMIM:618961
HP:0000478	Abnormality of the eye	55612	FERMT1	ORPHA:2908
HP:0000478	Abnormality of the eye	2629	GBA1	ORPHA:2072
HP:0000478	Abnormality of the eye	10516	FBLN5	ORPHA:90348
HP:0000478	Abnormality of the eye	4094	MAF	OMIM:610202
HP:0000478	Abnormality of the eye	4094	MAF	ORPHA:1377
HP:0000478	Abnormality of the eye	9939	RBM8A	OMIM:274000
HP:0000478	Abnormality of the eye	4313	MMP2	OMIM:259600
HP:0000478	Abnormality of the eye	117581	TWIST2	ORPHA:920
HP:0000478	Abnormality of the eye	157570	ESCO2	OMIM:268300
HP:0000478	Abnormality of the eye	2317	FLNB	OMIM:150250
HP:0000478	Abnormality of the eye	3832	KIF11	OMIM:152950
HP:0000478	Abnormality of the eye	58495	OVOL2	OMIM:122000
HP:0000478	Abnormality of the eye	58495	OVOL2	ORPHA:98973
HP:0000478	Abnormality of the eye	2703	GJA8	ORPHA:1377
HP:0000478	Abnormality of the eye	1413	CRYBA4	ORPHA:1377
HP:0000478	Abnormality of the eye	1409	CRYAA	ORPHA:1377
HP:0000478	Abnormality of the eye	1415	CRYBB2	ORPHA:1377
HP:0000478	Abnormality of the eye	1414	CRYBB1	ORPHA:1377
HP:0000478	Abnormality of the eye	1420	CRYGC	ORPHA:1377
HP:0000478	Abnormality of the eye	1421	CRYGD	ORPHA:1377
HP:0000478	Abnormality of the eye	9935	MAFB	OMIM:166300
HP:0000478	Abnormality of the eye	55670	PEX26	ORPHA:912
HP:0000478	Abnormality of the eye	5824	PEX19	ORPHA:912
HP:0000478	Abnormality of the eye	5828	PEX2	ORPHA:912
HP:0000478	Abnormality of the eye	8504	PEX3	ORPHA:912
HP:0000478	Abnormality of the eye	8799	PEX11B	ORPHA:912
HP:0000478	Abnormality of the eye	9409	PEX16	ORPHA:912
HP:0000478	Abnormality of the eye	5190	PEX6	ORPHA:912
HP:0000478	Abnormality of the eye	5830	PEX5	ORPHA:912
HP:0000478	Abnormality of the eye	5189	PEX1	ORPHA:912
HP:0000478	Abnormality of the eye	5193	PEX12	ORPHA:912
HP:0000478	Abnormality of the eye	5194	PEX13	ORPHA:912
HP:0000478	Abnormality of the eye	5195	PEX14	ORPHA:912
HP:0000478	Abnormality of the eye	5192	PEX10	ORPHA:912
HP:0000478	Abnormality of the eye	3852	KRT5	ORPHA:79396
HP:0000478	Abnormality of the eye	3861	KRT14	ORPHA:79396
HP:0000478	Abnormality of the eye	6935	ZEB1	ORPHA:98973
HP:0000478	Abnormality of the eye	6935	ZEB1	ORPHA:98974
HP:0000478	Abnormality of the eye	30813	VSX1	ORPHA:98973
HP:0000478	Abnormality of the eye	79977	GRHL2	ORPHA:98973
HP:0000478	Abnormality of the eye	54808	DYM	ORPHA:239
HP:0000478	Abnormality of the eye	123624	AGBL1	ORPHA:98974
HP:0000478	Abnormality of the eye	10312	TCIRG1	ORPHA:210110
HP:0000478	Abnormality of the eye	1186	CLCN7	ORPHA:210110
HP:0000478	Abnormality of the eye	9842	PLEKHM1	ORPHA:210110
HP:0000478	Abnormality of the eye	200576	PIKFYVE	OMIM:121850
HP:0000478	Abnormality of the eye	1495	CTNNA1	OMIM:608970
HP:0000478	Abnormality of the eye	1280	COL2A1	ORPHA:485
HP:0000478	Abnormality of the eye	1297	COL9A1	OMIM:614134
HP:0000478	Abnormality of the eye	2065	ERBB3	OMIM:607598
HP:0000478	Abnormality of the eye	1302	COL11A2	ORPHA:1427
HP:0000478	Abnormality of the eye	25782	RAB3GAP2	OMIM:614225
HP:0000478	Abnormality of the eye	4724	NDUFS4	OMIM:252010
HP:0000478	Abnormality of the eye	1340	COX6B1	OMIM:619051
HP:0000478	Abnormality of the eye	5631	PRPS1	ORPHA:423479
HP:0000478	Abnormality of the eye	57107	PDSS2	ORPHA:255249
HP:0000478	Abnormality of the eye	27235	COQ2	ORPHA:255249
HP:0000478	Abnormality of the eye	478	ATP1A3	OMIM:601338
HP:0000478	Abnormality of the eye	9326	ZNHIT3	OMIM:260565
HP:0000478	Abnormality of the eye	9526	MPDU1	ORPHA:79323
HP:0000478	Abnormality of the eye	28962	OSTM1	OMIM:259720
HP:0000478	Abnormality of the eye	54880	BCOR	OMIM:300166
HP:0000478	Abnormality of the eye	57688	ZSWIM6	OMIM:603671
HP:0000478	Abnormality of the eye	1763	DNA2	ORPHA:352470
HP:0000478	Abnormality of the eye	79184	BRCC3	ORPHA:280679
HP:0000478	Abnormality of the eye	7204	TRIO	ORPHA:476126
HP:0000478	Abnormality of the eye	631	BFSP1	OMIM:611391
HP:0000478	Abnormality of the eye	4284	MIP	OMIM:615274
HP:0000478	Abnormality of the eye	134218	DNAJC21	OMIM:617052
HP:0000478	Abnormality of the eye	203068	TUBB	OMIM:615771
HP:0000478	Abnormality of the eye	5147	PDE6D	OMIM:615665
HP:0000478	Abnormality of the eye	84816	RTN4IP1	OMIM:616732
HP:0000478	Abnormality of the eye	5934	RBL2	OMIM:619690
HP:0000478	Abnormality of the eye	2643	GCH1	OMIM:128230
HP:0000478	Abnormality of the eye	6658	SOX3	ORPHA:67045
HP:0000478	Abnormality of the eye	146227	BEAN1	OMIM:117210
HP:0000478	Abnormality of the eye	131669	UROC1	ORPHA:210128
HP:0000478	Abnormality of the eye	5081	PAX7	OMIM:618578
HP:0000478	Abnormality of the eye	2911	GRM1	OMIM:614831
HP:0000478	Abnormality of the eye	2911	GRM1	ORPHA:324262
HP:0000478	Abnormality of the eye	2677	GGCX	ORPHA:436274
HP:0000478	Abnormality of the eye	2161	F12	ORPHA:330
HP:0000478	Abnormality of the eye	103	ADAR	ORPHA:41
HP:0000478	Abnormality of the eye	80173	IFT74	OMIM:617119
HP:0000478	Abnormality of the eye	5077	PAX3	OMIM:193500
HP:0000478	Abnormality of the eye	79140	CCDC28B	OMIM:209900
HP:0000478	Abnormality of the eye	79628	SH3TC2	ORPHA:99949
HP:0000478	Abnormality of the eye	54463	RETREG1	OMIM:201300
HP:0000478	Abnormality of the eye	65125	WNK1	OMIM:201300
HP:0000478	Abnormality of the eye	92949	ADAMTSL1	ORPHA:521445
HP:0000478	Abnormality of the eye	22947	DUX4L1	ORPHA:269
HP:0000478	Abnormality of the eye	100288687	DUX4	ORPHA:269
HP:0000478	Abnormality of the eye	9333	TGM5	ORPHA:263534
HP:0000478	Abnormality of the eye	1475	CSTA	ORPHA:263534
HP:0000478	Abnormality of the eye	7750	ZMYM2	OMIM:619522
HP:0000478	Abnormality of the eye	7428	VHL	ORPHA:892
HP:0000478	Abnormality of the eye	7428	VHL	ORPHA:29072
HP:0000478	Abnormality of the eye	7428	VHL	OMIM:193300
HP:0000478	Abnormality of the eye	595	CCND1	ORPHA:892
HP:0000478	Abnormality of the eye	595	CCND1	OMIM:193300
HP:0000478	Abnormality of the eye	1743	DLST	ORPHA:29072
HP:0000478	Abnormality of the eye	4191	MDH2	ORPHA:29072
HP:0000478	Abnormality of the eye	5979	RET	ORPHA:29072
HP:0000478	Abnormality of the eye	6389	SDHA	ORPHA:29072
HP:0000478	Abnormality of the eye	2271	FH	ORPHA:29072
HP:0000478	Abnormality of the eye	8402	SLC25A11	ORPHA:29072
HP:0000478	Abnormality of the eye	54949	SDHAF2	ORPHA:29072
HP:0000478	Abnormality of the eye	55654	TMEM127	ORPHA:29072
HP:0000478	Abnormality of the eye	4149	MAX	ORPHA:29072
HP:0000478	Abnormality of the eye	7249	TSC2	OMIM:613254
HP:0000478	Abnormality of the eye	3458	IFNG	OMIM:613254
HP:0000478	Abnormality of the eye	7248	TSC1	OMIM:191100
HP:0000478	Abnormality of the eye	4763	NF1	OMIM:601321
HP:0000478	Abnormality of the eye	4763	NF1	OMIM:162200
HP:0000478	Abnormality of the eye	4763	NF1	OMIM:162210
HP:0000478	Abnormality of the eye	4763	NF1	ORPHA:363700
HP:0000478	Abnormality of the eye	4763	NF1	OMIM:193520
HP:0000478	Abnormality of the eye	4763	NF1	ORPHA:97685
HP:0000478	Abnormality of the eye	161742	SPRED1	ORPHA:137605
HP:0000478	Abnormality of the eye	5396	PRRX1	ORPHA:990
HP:0000478	Abnormality of the eye	284252	KCTD1	OMIM:181270
HP:0000478	Abnormality of the eye	1656	DDX6	OMIM:618653
HP:0000478	Abnormality of the eye	91147	TMEM67	OMIM:613550
HP:0000478	Abnormality of the eye	29926	GMPPA	OMIM:615510
HP:0000478	Abnormality of the eye	25942	SIN3A	OMIM:613406
HP:0000478	Abnormality of the eye	8086	AAAS	OMIM:231550
HP:0000478	Abnormality of the eye	54507	ADAMTSL4	OMIM:225200
HP:0000478	Abnormality of the eye	80036	TRPM3	OMIM:620253
HP:0000478	Abnormality of the eye	9839	ZEB2	ORPHA:261552
HP:0000478	Abnormality of the eye	9839	ZEB2	OMIM:235730
HP:0000478	Abnormality of the eye	6909	TBX2	OMIM:618223
HP:0000478	Abnormality of the eye	387	RHOA	OMIM:618727
HP:0000478	Abnormality of the eye	10586	MAB21L2	OMIM:615877
HP:0000478	Abnormality of the eye	53834	FGFRL1	OMIM:194190
HP:0000478	Abnormality of the eye	1487	CTBP1	OMIM:194190
HP:0000478	Abnormality of the eye	3954	LETM1	OMIM:194190
HP:0000478	Abnormality of the eye	7468	NSD2	OMIM:194190
HP:0000478	Abnormality of the eye	10815	CPLX1	OMIM:194190
HP:0000478	Abnormality of the eye	11200	CHEK2	OMIM:259500
HP:0000478	Abnormality of the eye	170302	ARX	OMIM:300215
HP:0000478	Abnormality of the eye	57007	ACKR3	OMIM:619215
HP:0000478	Abnormality of the eye	10054	UBA2	OMIM:619959
HP:0000478	Abnormality of the eye	9969	MED13	OMIM:618009
HP:0000478	Abnormality of the eye	79848	CSPP1	ORPHA:397715
HP:0000478	Abnormality of the eye	9786	KIAA0586	ORPHA:397715
HP:0000478	Abnormality of the eye	3198	HOXA1	OMIM:601536
HP:0000478	Abnormality of the eye	4330	MN1	OMIM:618774
HP:0000478	Abnormality of the eye	57178	ZMIZ1	OMIM:618659
HP:0000478	Abnormality of the eye	26012	NSMF	OMIM:614838
HP:0000478	Abnormality of the eye	4035	LRP1	OMIM:604093
HP:0000478	Abnormality of the eye	3850	KRT3	OMIM:618767
HP:0000478	Abnormality of the eye	2263	FGFR2	ORPHA:2363
HP:0000478	Abnormality of the eye	2255	FGF10	ORPHA:2363
HP:0000478	Abnormality of the eye	3321	IGSF3	OMIM:149700
HP:0000478	Abnormality of the eye	2196	FAT2	OMIM:617769
HP:0000478	Abnormality of the eye	6655	SOS2	OMIM:616559
HP:0000478	Abnormality of the eye	8216	LZTR1	OMIM:616564
HP:0000478	Abnormality of the eye	3074	HEXB	ORPHA:309155
HP:0000478	Abnormality of the eye	3074	HEXB	OMIM:268800
HP:0000478	Abnormality of the eye	5660	PSAP	ORPHA:206436
HP:0000478	Abnormality of the eye	3073	HEXA	OMIM:272800
HP:0000478	Abnormality of the eye	1615	DARS1	OMIM:615281
HP:0000478	Abnormality of the eye	2760	GM2A	ORPHA:309246
HP:0000478	Abnormality of the eye	10730	YME1L1	OMIM:617302
HP:0000478	Abnormality of the eye	1411	CRYBA1	OMIM:600881
HP:0000478	Abnormality of the eye	2700	GJA3	OMIM:601885
HP:0000478	Abnormality of the eye	8443	GNPAT	OMIM:222765
HP:0000478	Abnormality of the eye	81570	CLPB	OMIM:616271
HP:0000478	Abnormality of the eye	1427	CRYGS	OMIM:116100
HP:0000478	Abnormality of the eye	55229	PANK4	OMIM:619593
HP:0000478	Abnormality of the eye	84189	SLITRK6	OMIM:221200
HP:0000478	Abnormality of the eye	54453	RIN2	ORPHA:217335
HP:0000478	Abnormality of the eye	54453	RIN2	OMIM:613075
HP:0000478	Abnormality of the eye	79631	EFL1	OMIM:617941
HP:0000478	Abnormality of the eye	10265	IRX5	OMIM:611174
HP:0000478	Abnormality of the eye	84146	ZNF644	OMIM:614167
HP:0000478	Abnormality of the eye	283375	SLC39A5	OMIM:615946
HP:0000478	Abnormality of the eye	407	ARR3	OMIM:301010
HP:0000478	Abnormality of the eye	2683	B4GALT1	ORPHA:79332
HP:0000478	Abnormality of the eye	2742	GLRA2	OMIM:301076
HP:0000478	Abnormality of the eye	10398	MYL9	OMIM:619365
HP:0000478	Abnormality of the eye	1286	COL4A4	OMIM:203780
HP:0000478	Abnormality of the eye	1288	COL4A6	ORPHA:1018
HP:0000478	Abnormality of the eye	54499	TMCO1	OMIM:213980
HP:0000478	Abnormality of the eye	64131	XYLT1	OMIM:264800
HP:0000478	Abnormality of the eye	7867	MAPKAPK3	OMIM:617111
HP:0000478	Abnormality of the eye	7123	CLEC3B	OMIM:619977
HP:0000478	Abnormality of the eye	2201	FBN2	OMIM:616118
HP:0000478	Abnormality of the eye	2192	FBLN1	ORPHA:404451
HP:0000478	Abnormality of the eye	11235	PDCD10	ORPHA:221061
HP:0000478	Abnormality of the eye	83605	CCM2	ORPHA:221061
HP:0000478	Abnormality of the eye	5903	RANBP2	ORPHA:88619
HP:0000478	Abnormality of the eye	4337	MOCS1	OMIM:252150
HP:0000478	Abnormality of the eye	4338	MOCS2	OMIM:252160
HP:0000478	Abnormality of the eye	113246	C12orf57	OMIM:218340
HP:0000478	Abnormality of the eye	5076	PAX2	OMIM:120330
HP:0000478	Abnormality of the eye	7010	TEK	OMIM:617272
HP:0000478	Abnormality of the eye	611	OPN1SW	ORPHA:88629
HP:0000478	Abnormality of the eye	5917	RARS1	OMIM:616140
HP:0000478	Abnormality of the eye	9725	TMEM63A	OMIM:618688
HP:0000478	Abnormality of the eye	90167	FRMD7	OMIM:310700
HP:0000478	Abnormality of the eye	1737	DLAT	OMIM:245348
HP:0000478	Abnormality of the eye	23636	NUP62	OMIM:271930
HP:0000478	Abnormality of the eye	79718	TBL1XR1	OMIM:602342
HP:0000478	Abnormality of the eye	79718	TBL1XR1	ORPHA:487825
HP:0000478	Abnormality of the eye	5354	PLP1	ORPHA:280210
HP:0000478	Abnormality of the eye	22978	NT5C2	ORPHA:320396
HP:0000478	Abnormality of the eye	388552	BLOC1S3	OMIM:614077
HP:0000478	Abnormality of the eye	833	CARS1	OMIM:618891
HP:0000478	Abnormality of the eye	6392	SDHD	OMIM:619167
HP:0000478	Abnormality of the eye	2670	GFAP	OMIM:203450
HP:0000478	Abnormality of the eye	3149	HMGB3	OMIM:300915
HP:0000478	Abnormality of the eye	23268	DNMBP	OMIM:618415
HP:0000478	Abnormality of the eye	79583	TMEM231	ORPHA:2752
HP:0000478	Abnormality of the eye	112476	PRRT2	ORPHA:569
HP:0000478	Abnormality of the eye	477	ATP1A2	ORPHA:569
HP:0000478	Abnormality of the eye	8218	CLTCL1	ORPHA:453510
HP:0000478	Abnormality of the eye	5322	PLA2G5	OMIM:228980
HP:0000478	Abnormality of the eye	84131	CEP78	OMIM:617236
HP:0000478	Abnormality of the eye	6314	ATXN7	ORPHA:94147
HP:0000478	Abnormality of the eye	57105	CYSLTR2	ORPHA:39044
HP:0000478	Abnormality of the eye	2776	GNAQ	ORPHA:39044
HP:0000478	Abnormality of the eye	2767	GNA11	ORPHA:39044
HP:0000478	Abnormality of the eye	23451	SF3B1	ORPHA:39044
HP:0000478	Abnormality of the eye	9692	PRORP	OMIM:619737
HP:0000478	Abnormality of the eye	5376	PMP22	ORPHA:90658
HP:0000478	Abnormality of the eye	4359	MPZ	OMIM:118200
HP:0000478	Abnormality of the eye	10133	OPTN	OMIM:137760
HP:0000478	Abnormality of the eye	4909	NTF4	OMIM:613100
HP:0000478	Abnormality of the eye	134430	WDR36	OMIM:609887
HP:0000478	Abnormality of the eye	144811	LACC1	ORPHA:85414
HP:0000478	Abnormality of the eye	4282	MIF	ORPHA:85414
HP:0000478	Abnormality of the eye	3569	IL6	ORPHA:85414
HP:0000478	Abnormality of the eye	7128	TNFAIP3	OMIM:616744
HP:0000478	Abnormality of the eye	330	BIRC3	ORPHA:52417
HP:0000478	Abnormality of the eye	10892	MALT1	ORPHA:52417
HP:0000478	Abnormality of the eye	3492	IGH	ORPHA:52417
HP:0000478	Abnormality of the eye	8915	BCL10	ORPHA:52417
HP:0000478	Abnormality of the eye	57167	SALL4	ORPHA:233
HP:0000478	Abnormality of the eye	1123	CHN1	ORPHA:233
HP:0000478	Abnormality of the eye	5339	PLEC	ORPHA:257
HP:0000478	Abnormality of the eye	59341	TRPV4	OMIM:606071
HP:0000478	Abnormality of the eye	2475	MTOR	ORPHA:99802
HP:0000478	Abnormality of the eye	10000	AKT3	ORPHA:99802
HP:0000478	Abnormality of the eye	54658	UGT1A1	ORPHA:79234
HP:0000478	Abnormality of the eye	389827	MYMK	OMIM:254940
HP:0000478	Abnormality of the eye	55901	THSD1	ORPHA:231160
HP:0000478	Abnormality of the eye	7049	TGFBR3	ORPHA:231160
HP:0000478	Abnormality of the eye	1281	COL3A1	ORPHA:231160
HP:0000478	Abnormality of the eye	83854	ANGPTL6	ORPHA:231160
HP:0000478	Abnormality of the eye	2022	ENG	ORPHA:231160
HP:0000478	Abnormality of the eye	7253	TSHR	ORPHA:424
HP:0000478	Abnormality of the eye	83550	GPR101	OMIM:300942
HP:0000478	Abnormality of the eye	51241	COX16	OMIM:619355
HP:0000478	Abnormality of the eye	2903	GRIN2A	ORPHA:289266
HP:0000478	Abnormality of the eye	462	SERPINC1	ORPHA:82
HP:0000478	Abnormality of the eye	23474	ETHE1	ORPHA:51188
HP:0000478	Abnormality of the eye	9993	DGCR2	OMIM:192430
HP:0000478	Abnormality of the eye	8220	ESS2	OMIM:192430
HP:0000478	Abnormality of the eye	8214	DGCR6	OMIM:192430
HP:0000478	Abnormality of the eye	54487	DGCR8	OMIM:192430
HP:0000478	Abnormality of the eye	55325	UFSP2	OMIM:620028
HP:0000478	Abnormality of the eye	55610	VPS50	OMIM:619685
HP:0000478	Abnormality of the eye	83479	DDX59	OMIM:174300
HP:0000478	Abnormality of the eye	55367	PIDD1	OMIM:619827
HP:0000478	Abnormality of the eye	51116	MRPS2	OMIM:617950
HP:0000478	Abnormality of the eye	157657	CFAP418	OMIM:614500
HP:0000478	Abnormality of the eye	5961	PRPH2	OMIM:169150
HP:0000478	Abnormality of the eye	57465	TBC1D24	ORPHA:352596
HP:0000478	Abnormality of the eye	6857	SYT1	ORPHA:522077
HP:0000478	Abnormality of the eye	23116	TOGARAM1	OMIM:619185
HP:0000478	Abnormality of the eye	80232	WDR26	OMIM:617616
HP:0000478	Abnormality of the eye	80232	WDR26	ORPHA:513456
HP:0000478	Abnormality of the eye	10625	IVNS1ABP	OMIM:618969
HP:0000478	Abnormality of the eye	3932	LCK	OMIM:615758
HP:0000478	Abnormality of the eye	51102	MECR	OMIM:617282
HP:0000478	Abnormality of the eye	51102	MECR	ORPHA:508093
HP:0000478	Abnormality of the eye	6334	SCN8A	OMIM:614306
HP:0000478	Abnormality of the eye	3211	HOXB1	OMIM:614744
HP:0000478	Abnormality of the eye	57498	KIDINS220	ORPHA:521390
HP:0000478	Abnormality of the eye	2702	GJA5	OMIM:612474
HP:0000478	Abnormality of the eye	27125	AFF4	ORPHA:444077
HP:0000478	Abnormality of the eye	57531	HACE1	ORPHA:464282
HP:0000478	Abnormality of the eye	60684	TRAPPC11	ORPHA:369840
HP:0000478	Abnormality of the eye	2512	FTL	ORPHA:157846
HP:0000478	Abnormality of the eye	91754	NEK9	OMIM:614262
HP:0000478	Abnormality of the eye	23287	AGTPBP1	OMIM:618276
HP:0000478	Abnormality of the eye	10157	AASS	ORPHA:2203
HP:0000478	Abnormality of the eye	23230	VPS13A	ORPHA:2388
HP:0000478	Abnormality of the eye	3748	KCNC3	ORPHA:98768
HP:0000478	Abnormality of the eye	23400	ATP13A2	ORPHA:314632
HP:0000478	Abnormality of the eye	5308	PITX2	OMIM:180550
HP:0000478	Abnormality of the eye	710	SERPING1	ORPHA:100050
HP:0000478	Abnormality of the eye	3490	IGFBP7	OMIM:614224
HP:0000478	Abnormality of the eye	3913	LAMB2	OMIM:609049
HP:0000478	Abnormality of the eye	343450	KCNT2	OMIM:617771
HP:0000478	Abnormality of the eye	25953	PNKD	ORPHA:98810
HP:0000478	Abnormality of the eye	7306	TYRP1	ORPHA:79433
HP:0000478	Abnormality of the eye	23126	POGZ	OMIM:616364
HP:0000478	Abnormality of the eye	4617	MYF5	OMIM:618155
HP:0000478	Abnormality of the eye	51506	UFC1	OMIM:618076
HP:0000478	Abnormality of the eye	2200	FBN1	OMIM:154700
HP:0000478	Abnormality of the eye	1131	CHRM3	OMIM:100100
HP:0000478	Abnormality of the eye	1136	CHRNA3	OMIM:191800
HP:0000478	Abnormality of the eye	9699	RIMS2	OMIM:618970
HP:0000478	Abnormality of the eye	6533	SLC6A6	OMIM:145350
HP:0000478	Abnormality of the eye	2055	CLN8	ORPHA:1947
HP:0000478	Abnormality of the eye	2673	GFPT1	OMIM:610542
HP:0000478	Abnormality of the eye	1181	CLCN2	OMIM:615651
HP:0000478	Abnormality of the eye	71	ACTG1	ORPHA:2995
HP:0000478	Abnormality of the eye	60	ACTB	ORPHA:2995
HP:0000478	Abnormality of the eye	23554	TSPAN12	ORPHA:891
HP:0000478	Abnormality of the eye	5959	RDH5	ORPHA:52427
HP:0000478	Abnormality of the eye	23503	ZFYVE26	ORPHA:100996
HP:0000478	Abnormality of the eye	189	AGXT	OMIM:259900
HP:0000478	Abnormality of the eye	8787	RGS9	OMIM:608415
HP:0000478	Abnormality of the eye	773	CACNA1A	ORPHA:98758
HP:0000478	Abnormality of the eye	10059	DNM1L	ORPHA:98673
HP:0000478	Abnormality of the eye	4976	OPA1	ORPHA:98673
HP:0000478	Abnormality of the eye	5879	RAC1	ORPHA:500159
HP:0000478	Abnormality of the eye	23600	AMACR	ORPHA:79095
HP:0000478	Abnormality of the eye	64072	CDH23	ORPHA:91347
HP:0000478	Abnormality of the eye	64072	CDH23	ORPHA:2965
HP:0000478	Abnormality of the eye	4221	MEN1	ORPHA:2965
HP:0000478	Abnormality of the eye	9049	AIP	ORPHA:2965
HP:0000478	Abnormality of the eye	80201	HKDC1	OMIM:619614
HP:0000478	Abnormality of the eye	50	ACO2	OMIM:616289
HP:0000478	Abnormality of the eye	28982	FLVCR1	OMIM:609033
HP:0000478	Abnormality of the eye	22901	ARSG	OMIM:618144
HP:0000478	Abnormality of the eye	3105	HLA-A	ORPHA:179
HP:0000478	Abnormality of the eye	10381	TUBB3	ORPHA:300570
HP:0000478	Abnormality of the eye	114902	C1QTNF5	ORPHA:67042
HP:0000478	Abnormality of the eye	27183	VPS4A	OMIM:619273
HP:0000478	Abnormality of the eye	6472	SHMT2	OMIM:619121
HP:0000478	Abnormality of the eye	4137	MAPT	ORPHA:240071
HP:0000478	Abnormality of the eye	7132	TNFRSF1A	OMIM:142680
HP:0000478	Abnormality of the eye	164	AP1G1	OMIM:619548
HP:0000478	Abnormality of the eye	81794	ADAMTS10	OMIM:277600
HP:0000478	Abnormality of the eye	25790	CFAP45	OMIM:619608
HP:0000478	Abnormality of the eye	11277	TREX1	ORPHA:247691
HP:0000478	Abnormality of the eye	348	APOE	OMIM:603075
HP:0000478	Abnormality of the eye	83872	HMCN1	OMIM:603075
HP:0000478	Abnormality of the eye	3078	CFHR1	OMIM:603075
HP:0000478	Abnormality of the eye	10878	CFHR3	OMIM:603075
HP:0000478	Abnormality of the eye	10058	ABCB6	OMIM:614497
HP:0000478	Abnormality of the eye	2316	FLNA	ORPHA:555877
HP:0000478	Abnormality of the eye	8364	H4C3	OMIM:619758
HP:0000478	Abnormality of the eye	8367	H4C5	OMIM:619950
HP:0000478	Abnormality of the eye	1299	COL9A3	OMIM:620022
HP:0000478	Abnormality of the eye	8398	PLA2G6	OMIM:612953
HP:0000478	Abnormality of the eye	6531	SLC6A3	OMIM:613135
HP:0000478	Abnormality of the eye	4841	NONO	ORPHA:466791
HP:0000478	Abnormality of the eye	667	DST	OMIM:614653
HP:0000478	Abnormality of the eye	10166	SLC25A15	ORPHA:415
HP:0000478	Abnormality of the eye	10216	PRG4	ORPHA:2848
HP:0000478	Abnormality of the eye	79443	FYCO1	OMIM:610019
HP:0000478	Abnormality of the eye	7390	UROS	ORPHA:79277
HP:0000478	Abnormality of the eye	2623	GATA1	ORPHA:79277
HP:0000478	Abnormality of the eye	7389	UROD	ORPHA:95159
HP:0000478	Abnormality of the eye	2261	FGFR3	ORPHA:93262
HP:0000478	Abnormality of the eye	3593	IL12B	ORPHA:3287
HP:0000478	Abnormality of the eye	6945	MLX	ORPHA:3287
HP:0000478	Abnormality of the eye	1493	CTLA4	ORPHA:900
HP:0000478	Abnormality of the eye	3115	HLA-DPB1	ORPHA:900
HP:0000478	Abnormality of the eye	5657	PRTN3	ORPHA:900
HP:0000478	Abnormality of the eye	3113	HLA-DPA1	ORPHA:900
HP:0000478	Abnormality of the eye	1536	CYBB	ORPHA:379
HP:0000478	Abnormality of the eye	4688	NCF2	ORPHA:379
HP:0000478	Abnormality of the eye	1535	CYBA	ORPHA:379
HP:0000478	Abnormality of the eye	4689	NCF4	ORPHA:379
HP:0000478	Abnormality of the eye	79415	CYBC1	ORPHA:379
HP:0000478	Abnormality of the eye	55315	SLC29A3	OMIM:602782
HP:0000478	Abnormality of the eye	114548	NLRP3	ORPHA:575
HP:0000478	Abnormality of the eye	5696	PSMB8	OMIM:256040
HP:0000478	Abnormality of the eye	1776	DNASE1L3	ORPHA:36412
HP:0000478	Abnormality of the eye	151	ADRA2B	ORPHA:86814
HP:0000478	Abnormality of the eye	55689	YEATS2	ORPHA:86814
HP:0000478	Abnormality of the eye	1501	CTNND2	ORPHA:86814
HP:0000478	Abnormality of the eye	10299	MARCHF6	ORPHA:86814
HP:0000478	Abnormality of the eye	6900	CNTN2	ORPHA:86814
HP:0000478	Abnormality of the eye	401474	SAMD12	ORPHA:86814
HP:0000478	Abnormality of the eye	10019	SH2B3	ORPHA:3318
HP:0000478	Abnormality of the eye	811	CALR	ORPHA:3318
HP:0000478	Abnormality of the eye	54790	TET2	ORPHA:3318
HP:0000478	Abnormality of the eye	51284	TLR7	OMIM:301080
HP:0000478	Abnormality of the eye	6323	SCN1A	OMIM:607208
HP:0000478	Abnormality of the eye	291	SLC25A4	ORPHA:254892
HP:0000478	Abnormality of the eye	5428	POLG	ORPHA:254892
HP:0000478	Abnormality of the eye	5428	POLG	OMIM:203700
HP:0000478	Abnormality of the eye	56652	TWNK	ORPHA:254892
HP:0000478	Abnormality of the eye	11232	POLG2	ORPHA:254892
HP:0000478	Abnormality of the eye	11232	POLG2	OMIM:610131
HP:0000478	Abnormality of the eye	23394	ADNP	ORPHA:404448
HP:0000478	Abnormality of the eye	10466	COG5	ORPHA:263487
HP:0000478	Abnormality of the eye	104	ADARB1	OMIM:618862
HP:0000478	Abnormality of the eye	1183	CLCN4	OMIM:300114
HP:0000478	Abnormality of the eye	1183	CLCN4	ORPHA:485350
HP:0000478	Abnormality of the eye	776	CACNA1D	OMIM:615474
HP:0000478	Abnormality of the eye	776	CACNA1D	ORPHA:369929
HP:0000478	Abnormality of the eye	55823	VPS11	OMIM:616683
HP:0000478	Abnormality of the eye	55823	VPS11	ORPHA:466934
HP:0000478	Abnormality of the eye	65062	TMEM237	OMIM:614424
HP:0000478	Abnormality of the eye	781	CACNA2D1	OMIM:620149
HP:0000478	Abnormality of the eye	85358	SHANK3	OMIM:606232
HP:0000478	Abnormality of the eye	6328	SCN3A	OMIM:617938
HP:0000478	Abnormality of the eye	1119	CHKA	OMIM:620023
HP:0000478	Abnormality of the eye	132158	GLYCTK	ORPHA:941
HP:0000478	Abnormality of the eye	10093	ARPC4	OMIM:620141
HP:0000478	Abnormality of the eye	128869	PIGU	OMIM:618590
HP:0000478	Abnormality of the eye	51112	TRAPPC12	ORPHA:500144
HP:0000478	Abnormality of the eye	51112	TRAPPC12	OMIM:617669
HP:0000478	Abnormality of the eye	387119	CEP85L	OMIM:618873
HP:0000478	Abnormality of the eye	387119	CEP85L	ORPHA:572013
HP:0000478	Abnormality of the eye	3020	H3-3A	OMIM:619720
HP:0000478	Abnormality of the eye	6651	SON	OMIM:617140
HP:0000478	Abnormality of the eye	6651	SON	ORPHA:500150
HP:0000478	Abnormality of the eye	57520	HECW2	OMIM:617268
HP:0000478	Abnormality of the eye	396	ARHGDIA	OMIM:615244
HP:0000478	Abnormality of the eye	2782	GNB1	ORPHA:488613
HP:0000478	Abnormality of the eye	2782	GNB1	OMIM:616973
HP:0000478	Abnormality of the eye	27245	AHDC1	ORPHA:412069
HP:0000478	Abnormality of the eye	1841	DTYMK	OMIM:619847
HP:0000478	Abnormality of the eye	79639	TMEM53	OMIM:619727
HP:0000478	Abnormality of the eye	166378	AFG2A	OMIM:616577
HP:0000478	Abnormality of the eye	80055	PGAP1	OMIM:615802
HP:0000478	Abnormality of the eye	2561	GABRB2	OMIM:617829
HP:0000478	Abnormality of the eye	10978	CLP1	OMIM:615803
HP:0000478	Abnormality of the eye	271	AMPD2	OMIM:615809
HP:0000478	Abnormality of the eye	23499	MACF1	ORPHA:572013
HP:0000478	Abnormality of the eye	23499	MACF1	OMIM:618325
HP:0000478	Abnormality of the eye	8869	ST3GAL5	OMIM:609056
HP:0000478	Abnormality of the eye	1185	CLCN6	OMIM:619173
HP:0000478	Abnormality of the eye	4512	MT-CO1	OMIM:540000
HP:0000478	Abnormality of the eye	4513	MT-CO2	OMIM:540000
HP:0000478	Abnormality of the eye	4514	MT-CO3	OMIM:540000
HP:0000478	Abnormality of the eye	4511	MT-TC	OMIM:540000
HP:0000478	Abnormality of the eye	4574	MT-TS1	OMIM:540000
HP:0000478	Abnormality of the eye	4575	MT-TS2	OMIM:540000
HP:0000478	Abnormality of the eye	4558	MT-TF	OMIM:540000
HP:0000478	Abnormality of the eye	4541	MT-ND6	OMIM:540000
HP:0000478	Abnormality of the eye	4540	MT-ND5	OMIM:540000
HP:0000478	Abnormality of the eye	4566	MT-TK	OMIM:540000
HP:0000478	Abnormality of the eye	4572	MT-TQ	OMIM:540000
HP:0000478	Abnormality of the eye	4577	MT-TV	OMIM:540000
HP:0000478	Abnormality of the eye	4578	MT-TW	OMIM:540000
HP:0000478	Abnormality of the eye	473	RERE	ORPHA:494344
HP:0000478	Abnormality of the eye	4001	LMNB1	OMIM:619179
HP:0000478	Abnormality of the eye	2560	GABRB1	OMIM:617153
HP:0000478	Abnormality of the eye	10588	MTHFS	OMIM:618367
HP:0000478	Abnormality of the eye	100131801	PET100	OMIM:619055
HP:0000478	Abnormality of the eye	3899	AFF3	OMIM:619297
HP:0000478	Abnormality of the eye	6844	VAMP2	OMIM:618760
HP:0000478	Abnormality of the eye	5119	CHMP1A	OMIM:614961
HP:0000478	Abnormality of the eye	79029	AFG2B	OMIM:619616
HP:0000478	Abnormality of the eye	5530	PPP3CA	OMIM:617711
HP:0000478	Abnormality of the eye	7994	KAT6A	ORPHA:457193
HP:0000478	Abnormality of the eye	7994	KAT6A	OMIM:616268
HP:0000478	Abnormality of the eye	80746	TSEN2	OMIM:612389
HP:0000478	Abnormality of the eye	80746	TSEN2	ORPHA:2524
HP:0000478	Abnormality of the eye	29920	PYCR2	ORPHA:481152
HP:0000478	Abnormality of the eye	2917	GRM7	OMIM:618922
HP:0000478	Abnormality of the eye	85465	SELENOI	OMIM:618768
HP:0000478	Abnormality of the eye	128989	TANGO2	ORPHA:480864
HP:0000478	Abnormality of the eye	6821	SUOX	OMIM:272300
HP:0000478	Abnormality of the eye	1678	TIMM8A	OMIM:304700
HP:0000478	Abnormality of the eye	1678	TIMM8A	ORPHA:52368
HP:0000478	Abnormality of the eye	2898	GRIK2	OMIM:619580
HP:0000478	Abnormality of the eye	10087	CERT1	OMIM:616351
HP:0000478	Abnormality of the eye	774	CACNA1B	OMIM:618497
HP:0000478	Abnormality of the eye	11342	RNF13	OMIM:618379
HP:0000478	Abnormality of the eye	11342	RNF13	ORPHA:544503
HP:0000478	Abnormality of the eye	2906	GRIN2D	OMIM:617162
HP:0000478	Abnormality of the eye	54681	P4HTM	OMIM:618493
HP:0000478	Abnormality of the eye	5277	PIGA	OMIM:300868
HP:0000478	Abnormality of the eye	5277	PIGA	OMIM:301072
HP:0000478	Abnormality of the eye	23327	NEDD4L	OMIM:617201
HP:0000478	Abnormality of the eye	4761	NEUROD2	OMIM:618374
HP:0000478	Abnormality of the eye	2257	FGF12	OMIM:617166
HP:0000478	Abnormality of the eye	23065	EMC1	OMIM:616875
HP:0000478	Abnormality of the eye	23065	EMC1	ORPHA:480898
HP:0000478	Abnormality of the eye	1729	DIAPH1	OMIM:616632
HP:0000478	Abnormality of the eye	28514	DLL1	ORPHA:93926
HP:0000478	Abnormality of the eye	28514	DLL1	ORPHA:93924
HP:0000478	Abnormality of the eye	28514	DLL1	ORPHA:93925
HP:0000478	Abnormality of the eye	28514	DLL1	ORPHA:220386
HP:0000478	Abnormality of the eye	2253	FGF8	ORPHA:93926
HP:0000478	Abnormality of the eye	2253	FGF8	ORPHA:93924
HP:0000478	Abnormality of the eye	2253	FGF8	ORPHA:93925
HP:0000478	Abnormality of the eye	2253	FGF8	ORPHA:220386
HP:0000478	Abnormality of the eye	6496	SIX3	ORPHA:93926
HP:0000478	Abnormality of the eye	6496	SIX3	ORPHA:93924
HP:0000478	Abnormality of the eye	6496	SIX3	ORPHA:93925
HP:0000478	Abnormality of the eye	6496	SIX3	ORPHA:220386
HP:0000478	Abnormality of the eye	7050	TGIF1	ORPHA:93926
HP:0000478	Abnormality of the eye	7050	TGIF1	ORPHA:93924
HP:0000478	Abnormality of the eye	7050	TGIF1	ORPHA:93925
HP:0000478	Abnormality of the eye	7050	TGIF1	ORPHA:220386
HP:0000478	Abnormality of the eye	4838	NODAL	ORPHA:93926
HP:0000478	Abnormality of the eye	4838	NODAL	ORPHA:93924
HP:0000478	Abnormality of the eye	4838	NODAL	ORPHA:93925
HP:0000478	Abnormality of the eye	4838	NODAL	ORPHA:220386
HP:0000478	Abnormality of the eye	6469	SHH	ORPHA:93926
HP:0000478	Abnormality of the eye	6469	SHH	ORPHA:93924
HP:0000478	Abnormality of the eye	6469	SHH	ORPHA:93925
HP:0000478	Abnormality of the eye	6469	SHH	ORPHA:220386
HP:0000478	Abnormality of the eye	7546	ZIC2	ORPHA:93926
HP:0000478	Abnormality of the eye	7546	ZIC2	ORPHA:93924
HP:0000478	Abnormality of the eye	7546	ZIC2	ORPHA:93925
HP:0000478	Abnormality of the eye	7546	ZIC2	ORPHA:220386
HP:0000478	Abnormality of the eye	6491	STIL	ORPHA:93926
HP:0000478	Abnormality of the eye	6491	STIL	ORPHA:93924
HP:0000478	Abnormality of the eye	6491	STIL	ORPHA:93925
HP:0000478	Abnormality of the eye	6491	STIL	ORPHA:220386
HP:0000478	Abnormality of the eye	2619	GAS1	ORPHA:93926
HP:0000478	Abnormality of the eye	2619	GAS1	ORPHA:93924
HP:0000478	Abnormality of the eye	2619	GAS1	ORPHA:93925
HP:0000478	Abnormality of the eye	2619	GAS1	ORPHA:220386
HP:0000478	Abnormality of the eye	84976	DISP1	ORPHA:93926
HP:0000478	Abnormality of the eye	84976	DISP1	ORPHA:93924
HP:0000478	Abnormality of the eye	84976	DISP1	ORPHA:93925
HP:0000478	Abnormality of the eye	84976	DISP1	ORPHA:220386
HP:0000478	Abnormality of the eye	2736	GLI2	ORPHA:93926
HP:0000478	Abnormality of the eye	2736	GLI2	ORPHA:93924
HP:0000478	Abnormality of the eye	2736	GLI2	ORPHA:93925
HP:0000478	Abnormality of the eye	2736	GLI2	ORPHA:220386
HP:0000478	Abnormality of the eye	8928	FOXH1	ORPHA:93926
HP:0000478	Abnormality of the eye	8928	FOXH1	ORPHA:93924
HP:0000478	Abnormality of the eye	8928	FOXH1	ORPHA:93925
HP:0000478	Abnormality of the eye	8928	FOXH1	ORPHA:220386
HP:0000478	Abnormality of the eye	5727	PTCH1	ORPHA:93926
HP:0000478	Abnormality of the eye	5727	PTCH1	ORPHA:93924
HP:0000478	Abnormality of the eye	5727	PTCH1	ORPHA:93925
HP:0000478	Abnormality of the eye	5727	PTCH1	ORPHA:220386
HP:0000478	Abnormality of the eye	50937	CDON	ORPHA:93926
HP:0000478	Abnormality of the eye	50937	CDON	ORPHA:93924
HP:0000478	Abnormality of the eye	50937	CDON	ORPHA:93925
HP:0000478	Abnormality of the eye	50937	CDON	ORPHA:220386
HP:0000478	Abnormality of the eye	23007	PLCH1	ORPHA:93925
HP:0000478	Abnormality of the eye	10735	STAG2	ORPHA:93925
HP:0000478	Abnormality of the eye	10735	STAG2	ORPHA:220386
HP:0000478	Abnormality of the eye	79731	NARS2	OMIM:616239
HP:0000478	Abnormality of the eye	26227	PHGDH	ORPHA:79351
HP:0000478	Abnormality of the eye	6638	SNRPN	ORPHA:177907
HP:0000478	Abnormality of the eye	6792	CDKL5	OMIM:300672
HP:0000478	Abnormality of the eye	7025	NR2F1	ORPHA:401777
HP:0000478	Abnormality of the eye	7025	NR2F1	OMIM:615722
HP:0000478	Abnormality of the eye	5518	PPP2R1A	OMIM:616362
HP:0000478	Abnormality of the eye	5518	PPP2R1A	ORPHA:457284
HP:0000478	Abnormality of the eye	84265	POLR3GL	OMIM:619234
HP:0000478	Abnormality of the eye	57003	CCDC47	OMIM:618268
HP:0000478	Abnormality of the eye	51604	PIGT	OMIM:615398
HP:0000478	Abnormality of the eye	51604	PIGT	ORPHA:369837
HP:0000478	Abnormality of the eye	57545	CC2D2A	OMIM:612285
HP:0000478	Abnormality of the eye	94005	PIGS	OMIM:618143
HP:0000478	Abnormality of the eye	9894	TELO2	ORPHA:488642
HP:0000478	Abnormality of the eye	9894	TELO2	OMIM:616954
HP:0000478	Abnormality of the eye	51692	CPSF3	OMIM:619876
HP:0000478	Abnormality of the eye	3098	HK1	OMIM:618547
HP:0000478	Abnormality of the eye	85440	DOCK7	ORPHA:411986
HP:0000478	Abnormality of the eye	85440	DOCK7	OMIM:615859
HP:0000478	Abnormality of the eye	9091	PIGQ	OMIM:618548
HP:0000478	Abnormality of the eye	83475	DOHH	OMIM:620066
HP:0000478	Abnormality of the eye	84992	PIGY	OMIM:616809
HP:0000478	Abnormality of the eye	728294	D2HGDH	OMIM:600721
HP:0000478	Abnormality of the eye	2222	FDFT1	OMIM:618156
HP:0000478	Abnormality of the eye	90522	YIF1B	OMIM:619125
HP:0000478	Abnormality of the eye	253959	RALGAPA1	OMIM:618797
HP:0000478	Abnormality of the eye	283989	TSEN54	ORPHA:2524
HP:0000478	Abnormality of the eye	116461	TSEN15	ORPHA:2524
HP:0000478	Abnormality of the eye	79042	TSEN34	ORPHA:2524
HP:0000478	Abnormality of the eye	51091	SEPSECS	ORPHA:2524
HP:0000478	Abnormality of the eye	2555	GABRA2	OMIM:618557
HP:0000478	Abnormality of the eye	25973	PARS2	OMIM:618437
HP:0000478	Abnormality of the eye	8911	CACNA1I	OMIM:620114
HP:0000478	Abnormality of the eye	60386	SLC25A19	OMIM:607196
HP:0000478	Abnormality of the eye	8813	DPM1	OMIM:608799
HP:0000478	Abnormality of the eye	8813	DPM1	ORPHA:79322
HP:0000478	Abnormality of the eye	23162	MAPK8IP3	OMIM:618443
HP:0000478	Abnormality of the eye	197258	FCSK	OMIM:618324
HP:0000478	Abnormality of the eye	3798	KIF5A	OMIM:617235
HP:0000478	Abnormality of the eye	440	ASNS	OMIM:615574
HP:0000478	Abnormality of the eye	777	CACNA1E	OMIM:618285
HP:0000478	Abnormality of the eye	4668	NAGA	OMIM:609241
HP:0000478	Abnormality of the eye	4668	NAGA	ORPHA:79279
HP:0000478	Abnormality of the eye	8243	SMC1A	ORPHA:220386
HP:0000478	Abnormality of the eye	133686	NADK2	ORPHA:431361
HP:0000478	Abnormality of the eye	133686	NADK2	OMIM:616034
HP:0000478	Abnormality of the eye	738	VPS51	OMIM:618606
HP:0000478	Abnormality of the eye	51227	PIGP	OMIM:617599
HP:0000478	Abnormality of the eye	1107	CHD3	OMIM:618205
HP:0000478	Abnormality of the eye	5718	PSMD12	OMIM:617516
HP:0000478	Abnormality of the eye	9757	KMT2B	OMIM:619934
HP:0000478	Abnormality of the eye	57731	SPTBN4	OMIM:617519
HP:0000478	Abnormality of the eye	116150	NUS1	OMIM:617082
HP:0000478	Abnormality of the eye	6576	SLC25A1	OMIM:615182
HP:0000478	Abnormality of the eye	2902	GRIN1	OMIM:614254
HP:0000478	Abnormality of the eye	2902	GRIN1	ORPHA:208447
HP:0000478	Abnormality of the eye	51693	TRAPPC2L	OMIM:618331
HP:0000478	Abnormality of the eye	9276	COPB2	OMIM:617800
HP:0000478	Abnormality of the eye	10844	TUBGCP2	OMIM:618737
HP:0000478	Abnormality of the eye	547	KIF1A	OMIM:614255
HP:0000478	Abnormality of the eye	221927	BRAT1	OMIM:614498
HP:0000478	Abnormality of the eye	58497	PRUNE1	ORPHA:544469
HP:0000478	Abnormality of the eye	55294	FBXW7	OMIM:620012
HP:0000478	Abnormality of the eye	57479	PRR12	OMIM:619539
HP:0000478	Abnormality of the eye	23291	FBXW11	OMIM:618914
HP:0000478	Abnormality of the eye	2248	FGF3	ORPHA:2791
HP:0000478	Abnormality of the eye	3858	KRT10	ORPHA:312
HP:0000478	Abnormality of the eye	3848	KRT1	ORPHA:312
HP:0000478	Abnormality of the eye	10483	SEC23B	ORPHA:201
HP:0000478	Abnormality of the eye	6390	SDHB	ORPHA:201
HP:0000478	Abnormality of the eye	6391	SDHC	ORPHA:201
HP:0000478	Abnormality of the eye	205717	USF3	ORPHA:201
HP:0000478	Abnormality of the eye	100144748	KLLN	ORPHA:201
HP:0000478	Abnormality of the eye	153642	ARSK	OMIM:619698
HP:0000478	Abnormality of the eye	23432	GPR161	ORPHA:95496
HP:0000478	Abnormality of the eye	10653	SPINT2	OMIM:270420
HP:0000478	Abnormality of the eye	5336	PLCG2	OMIM:614878
HP:0000478	Abnormality of the eye	540	ATP7B	ORPHA:905
HP:0000478	Abnormality of the eye	540	ATP7B	OMIM:277900
HP:0000478	Abnormality of the eye	7407	VARS1	OMIM:617802
HP:0000479	Abnormal retinal morphology	85300	ATCAY	OMIM:601238
HP:0000479	Abnormal retinal morphology	85300	ATCAY	ORPHA:94122
HP:0000479	Abnormal retinal morphology	611	OPN1SW	ORPHA:88629
HP:0000479	Abnormal retinal morphology	112802	KRT71	ORPHA:170
HP:0000479	Abnormal retinal morphology	121391	KRT74	ORPHA:170
HP:0000479	Abnormal retinal morphology	200879	LIPH	ORPHA:170
HP:0000479	Abnormal retinal morphology	10161	LPAR6	ORPHA:170
HP:0000479	Abnormal retinal morphology	147183	KRT25	ORPHA:170
HP:0000479	Abnormal retinal morphology	7084	TK2	ORPHA:254886
HP:0000479	Abnormal retinal morphology	5649	RELN	ORPHA:89844
HP:0000479	Abnormal retinal morphology	10300	KATNB1	ORPHA:89844
HP:0000479	Abnormal retinal morphology	54820	NDE1	ORPHA:89844
HP:0000479	Abnormal retinal morphology	65250	CPLANE1	OMIM:614615
HP:0000479	Abnormal retinal morphology	22827	PUF60	ORPHA:508498
HP:0000479	Abnormal retinal morphology	22827	PUF60	ORPHA:508488
HP:0000479	Abnormal retinal morphology	4123	MAN2C1	OMIM:619775
HP:0000479	Abnormal retinal morphology	9158	FIBP	ORPHA:500095
HP:0000479	Abnormal retinal morphology	9158	FIBP	OMIM:617107
HP:0000479	Abnormal retinal morphology	145173	B3GLCT	OMIM:261540
HP:0000479	Abnormal retinal morphology	9487	PIGL	OMIM:280000
HP:0000479	Abnormal retinal morphology	9487	PIGL	ORPHA:3474
HP:0000479	Abnormal retinal morphology	8573	CASK	OMIM:300749
HP:0000479	Abnormal retinal morphology	2248	FGF3	ORPHA:2791
HP:0000479	Abnormal retinal morphology	57167	SALL4	OMIM:607323
HP:0000479	Abnormal retinal morphology	9839	ZEB2	ORPHA:261537
HP:0000479	Abnormal retinal morphology	9839	ZEB2	ORPHA:261552
HP:0000479	Abnormal retinal morphology	7020	TFAP2A	OMIM:113620
HP:0000479	Abnormal retinal morphology	26173	INTS1	OMIM:618571
HP:0000479	Abnormal retinal morphology	95681	CEP41	ORPHA:220493
HP:0000479	Abnormal retinal morphology	55636	CHD7	OMIM:214800
HP:0000479	Abnormal retinal morphology	6297	SALL2	OMIM:216820
HP:0000479	Abnormal retinal morphology	3767	KCNJ11	ORPHA:552
HP:0000479	Abnormal retinal morphology	3767	KCNJ11	ORPHA:99885
HP:0000479	Abnormal retinal morphology	8462	KLF11	ORPHA:552
HP:0000479	Abnormal retinal morphology	2645	GCK	ORPHA:552
HP:0000479	Abnormal retinal morphology	2645	GCK	ORPHA:99885
HP:0000479	Abnormal retinal morphology	26060	APPL1	ORPHA:552
HP:0000479	Abnormal retinal morphology	640	BLK	ORPHA:552
HP:0000479	Abnormal retinal morphology	1056	CEL	ORPHA:552
HP:0000479	Abnormal retinal morphology	4760	NEUROD1	ORPHA:552
HP:0000479	Abnormal retinal morphology	3651	PDX1	ORPHA:552
HP:0000479	Abnormal retinal morphology	3651	PDX1	ORPHA:99885
HP:0000479	Abnormal retinal morphology	6833	ABCC8	ORPHA:552
HP:0000479	Abnormal retinal morphology	6833	ABCC8	ORPHA:99885
HP:0000479	Abnormal retinal morphology	5078	PAX4	ORPHA:552
HP:0000479	Abnormal retinal morphology	3172	HNF4A	ORPHA:552
HP:0000479	Abnormal retinal morphology	6927	HNF1A	ORPHA:552
HP:0000479	Abnormal retinal morphology	3630	INS	ORPHA:552
HP:0000479	Abnormal retinal morphology	3630	INS	ORPHA:99885
HP:0000479	Abnormal retinal morphology	1355	COX15	OMIM:615119
HP:0000479	Abnormal retinal morphology	1493	CTLA4	ORPHA:900
HP:0000479	Abnormal retinal morphology	26191	PTPN22	ORPHA:900
HP:0000479	Abnormal retinal morphology	3115	HLA-DPB1	ORPHA:900
HP:0000479	Abnormal retinal morphology	5657	PRTN3	ORPHA:900
HP:0000479	Abnormal retinal morphology	3113	HLA-DPA1	ORPHA:900
HP:0000479	Abnormal retinal morphology	3425	IDUA	ORPHA:93473
HP:0000479	Abnormal retinal morphology	5627	PROS1	ORPHA:743
HP:0000479	Abnormal retinal morphology	4556	MT-TE	ORPHA:225
HP:0000479	Abnormal retinal morphology	3043	HBB	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3043	HBB	OMIM:603903
HP:0000479	Abnormal retinal morphology	53335	BCL11A	ORPHA:251380
HP:0000479	Abnormal retinal morphology	10661	KLF1	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3047	HBG1	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3048	HBG2	ORPHA:251380
HP:0000479	Abnormal retinal morphology	25915	NDUFAF3	ORPHA:70474
HP:0000479	Abnormal retinal morphology	4714	NDUFB8	ORPHA:70474
HP:0000479	Abnormal retinal morphology	9997	SCO2	ORPHA:70474
HP:0000479	Abnormal retinal morphology	6834	SURF1	ORPHA:70474
HP:0000479	Abnormal retinal morphology	1387	CREBBP	ORPHA:353281
HP:0000479	Abnormal retinal morphology	25828	TXN2	ORPHA:478029
HP:0000479	Abnormal retinal morphology	25828	TXN2	OMIM:616811
HP:0000479	Abnormal retinal morphology	8314	BAP1	ORPHA:618
HP:0000479	Abnormal retinal morphology	1019	CDK4	ORPHA:618
HP:0000479	Abnormal retinal morphology	4255	MGMT	ORPHA:618
HP:0000479	Abnormal retinal morphology	54386	TERF2IP	ORPHA:618
HP:0000479	Abnormal retinal morphology	65057	ACD	ORPHA:618
HP:0000479	Abnormal retinal morphology	1029	CDKN2A	ORPHA:618
HP:0000479	Abnormal retinal morphology	7015	TERT	ORPHA:618
HP:0000479	Abnormal retinal morphology	25913	POT1	ORPHA:618
HP:0000479	Abnormal retinal morphology	1030	CDKN2B	ORPHA:618
HP:0000479	Abnormal retinal morphology	51128	SAR1B	ORPHA:71
HP:0000479	Abnormal retinal morphology	6774	STAT3	ORPHA:99885
HP:0000479	Abnormal retinal morphology	2260	FGFR1	ORPHA:2396
HP:0000479	Abnormal retinal morphology	3845	KRAS	ORPHA:2396
HP:0000479	Abnormal retinal morphology	3643	INSR	ORPHA:769
HP:0000479	Abnormal retinal morphology	3593	IL12B	ORPHA:3287
HP:0000479	Abnormal retinal morphology	3106	HLA-B	ORPHA:3287
HP:0000479	Abnormal retinal morphology	3106	HLA-B	ORPHA:117
HP:0000479	Abnormal retinal morphology	6945	MLX	ORPHA:3287
HP:0000479	Abnormal retinal morphology	79053	ALG8	ORPHA:79325
HP:0000479	Abnormal retinal morphology	5727	PTCH1	ORPHA:77301
HP:0000479	Abnormal retinal morphology	641	BLM	ORPHA:125
HP:0000479	Abnormal retinal morphology	10815	CPLX1	ORPHA:280
HP:0000479	Abnormal retinal morphology	54872	PIGG	ORPHA:280
HP:0000479	Abnormal retinal morphology	7469	NELFA	ORPHA:280
HP:0000479	Abnormal retinal morphology	1487	CTBP1	ORPHA:280
HP:0000479	Abnormal retinal morphology	3954	LETM1	ORPHA:280
HP:0000479	Abnormal retinal morphology	7468	NSD2	ORPHA:280
HP:0000479	Abnormal retinal morphology	10533	ATG7	OMIM:619422
HP:0000479	Abnormal retinal morphology	27077	B9D1	OMIM:617120
HP:0000479	Abnormal retinal morphology	375056	MIA3	OMIM:619269
HP:0000479	Abnormal retinal morphology	84314	TMEM107	OMIM:617563
HP:0000479	Abnormal retinal morphology	84314	TMEM107	OMIM:617562
HP:0000479	Abnormal retinal morphology	9907	AP5Z1	ORPHA:306511
HP:0000479	Abnormal retinal morphology	9907	AP5Z1	OMIM:613647
HP:0000479	Abnormal retinal morphology	1301	COL11A1	ORPHA:90654
HP:0000479	Abnormal retinal morphology	203068	TUBB	ORPHA:2505
HP:0000479	Abnormal retinal morphology	10982	MAPRE2	ORPHA:2505
HP:0000479	Abnormal retinal morphology	22954	TRIM32	OMIM:615988
HP:0000479	Abnormal retinal morphology	58497	PRUNE1	ORPHA:544469
HP:0000479	Abnormal retinal morphology	79158	GNPTAB	OMIM:252600
HP:0000479	Abnormal retinal morphology	4644	MYO5A	ORPHA:79476
HP:0000479	Abnormal retinal morphology	149233	IL23R	ORPHA:117
HP:0000479	Abnormal retinal morphology	6775	STAT4	ORPHA:117
HP:0000479	Abnormal retinal morphology	3586	IL10	ORPHA:117
HP:0000479	Abnormal retinal morphology	4210	MEFV	ORPHA:117
HP:0000479	Abnormal retinal morphology	1230	CCR1	ORPHA:117
HP:0000479	Abnormal retinal morphology	355	FAS	ORPHA:117
HP:0000479	Abnormal retinal morphology	3592	IL12A	ORPHA:117
HP:0000479	Abnormal retinal morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000479	Abnormal retinal morphology	7099	TLR4	ORPHA:117
HP:0000479	Abnormal retinal morphology	3459	IFNGR1	ORPHA:117
HP:0000479	Abnormal retinal morphology	720	C4A	ORPHA:117
HP:0000479	Abnormal retinal morphology	337867	UBAC2	ORPHA:117
HP:0000479	Abnormal retinal morphology	51752	ERAP1	ORPHA:117
HP:0000479	Abnormal retinal morphology	8302	KLRC4	ORPHA:117
HP:0000479	Abnormal retinal morphology	65217	PCDH15	OMIM:601067
HP:0000479	Abnormal retinal morphology	65217	PCDH15	OMIM:602083
HP:0000479	Abnormal retinal morphology	64072	CDH23	OMIM:601067
HP:0000479	Abnormal retinal morphology	64072	CDH23	OMIM:601386
HP:0000479	Abnormal retinal morphology	261734	NPHP4	OMIM:606996
HP:0000479	Abnormal retinal morphology	25970	SH2B1	ORPHA:261222
HP:0000479	Abnormal retinal morphology	91452	ACBD5	OMIM:618863
HP:0000479	Abnormal retinal morphology	5949	RBP3	OMIM:615233
HP:0000479	Abnormal retinal morphology	5949	RBP3	OMIM:268000
HP:0000479	Abnormal retinal morphology	583	BBS2	OMIM:616562
HP:0000479	Abnormal retinal morphology	583	BBS2	OMIM:615981
HP:0000479	Abnormal retinal morphology	4598	MVK	OMIM:260920
HP:0000479	Abnormal retinal morphology	2677	GGCX	ORPHA:436274
HP:0000479	Abnormal retinal morphology	6010	RHO	OMIM:613731
HP:0000479	Abnormal retinal morphology	755	CFAP410	OMIM:602271
HP:0000479	Abnormal retinal morphology	130557	ZNF513	OMIM:613617
HP:0000479	Abnormal retinal morphology	6094	ROM1	OMIM:608133
HP:0000479	Abnormal retinal morphology	6094	ROM1	OMIM:268000
HP:0000479	Abnormal retinal morphology	91147	TMEM67	OMIM:602152
HP:0000479	Abnormal retinal morphology	91147	TMEM67	ORPHA:140976
HP:0000479	Abnormal retinal morphology	91147	TMEM67	OMIM:615991
HP:0000479	Abnormal retinal morphology	23126	POGZ	ORPHA:468678
HP:0000479	Abnormal retinal morphology	23126	POGZ	OMIM:616364
HP:0000479	Abnormal retinal morphology	4535	MT-ND1	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4536	MT-ND2	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4537	MT-ND3	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4538	MT-ND4	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4567	MT-TL1	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4578	MT-TW	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4577	MT-TV	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4508	MT-ATP6	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4508	MT-ATP6	OMIM:551500
HP:0000479	Abnormal retinal morphology	4508	MT-ATP6	ORPHA:644
HP:0000479	Abnormal retinal morphology	4540	MT-ND5	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4541	MT-ND6	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4566	MT-TK	ORPHA:255210
HP:0000479	Abnormal retinal morphology	8842	PROM1	OMIM:612095
HP:0000479	Abnormal retinal morphology	6311	ATXN2	OMIM:183090
HP:0000479	Abnormal retinal morphology	24148	PRPF6	OMIM:613983
HP:0000479	Abnormal retinal morphology	92840	REEP6	OMIM:617304
HP:0000479	Abnormal retinal morphology	10461	MERTK	OMIM:613862
HP:0000479	Abnormal retinal morphology	79947	DHDDS	OMIM:613861
HP:0000479	Abnormal retinal morphology	9128	PRPF4	OMIM:615922
HP:0000479	Abnormal retinal morphology	57545	CC2D2A	OMIM:619845
HP:0000479	Abnormal retinal morphology	768206	PRCD	OMIM:610599
HP:0000479	Abnormal retinal morphology	84140	FAM161A	OMIM:606068
HP:0000479	Abnormal retinal morphology	23020	SNRNP200	OMIM:610359
HP:0000479	Abnormal retinal morphology	4646	MYO6	OMIM:607821
HP:0000479	Abnormal retinal morphology	7439	BEST1	OMIM:613194
HP:0000479	Abnormal retinal morphology	6103	RPGR	OMIM:300455
HP:0000479	Abnormal retinal morphology	6103	RPGR	ORPHA:244
HP:0000479	Abnormal retinal morphology	6103	RPGR	OMIM:300029
HP:0000479	Abnormal retinal morphology	4901	NRL	OMIM:613750
HP:0000479	Abnormal retinal morphology	1259	CNGA1	OMIM:613756
HP:0000479	Abnormal retinal morphology	1259	CNGA1	OMIM:268000
HP:0000479	Abnormal retinal morphology	51109	RDH11	OMIM:616108
HP:0000479	Abnormal retinal morphology	51109	RDH11	ORPHA:436245
HP:0000479	Abnormal retinal morphology	84100	ARL6	OMIM:209900
HP:0000479	Abnormal retinal morphology	84100	ARL6	OMIM:600151
HP:0000479	Abnormal retinal morphology	84100	ARL6	OMIM:613575
HP:0000479	Abnormal retinal morphology	84100	ARL6	OMIM:268000
HP:0000479	Abnormal retinal morphology	79140	CCDC28B	OMIM:209900
HP:0000479	Abnormal retinal morphology	582	BBS1	OMIM:209900
HP:0000479	Abnormal retinal morphology	6295	SAG	OMIM:613758
HP:0000479	Abnormal retinal morphology	6295	SAG	OMIM:620228
HP:0000479	Abnormal retinal morphology	6295	SAG	ORPHA:75382
HP:0000479	Abnormal retinal morphology	1509	CTSD	OMIM:610127
HP:0000479	Abnormal retinal morphology	6100	RP9	OMIM:180104
HP:0000479	Abnormal retinal morphology	3614	IMPDH1	OMIM:180105
HP:0000479	Abnormal retinal morphology	24	ABCA4	OMIM:601718
HP:0000479	Abnormal retinal morphology	26090	ABHD12	OMIM:612674
HP:0000479	Abnormal retinal morphology	10352	WARS2	ORPHA:572798
HP:0000479	Abnormal retinal morphology	10352	WARS2	OMIM:617710
HP:0000479	Abnormal retinal morphology	55012	PPP2R3C	OMIM:618419
HP:0000479	Abnormal retinal morphology	1201	CLN3	OMIM:204200
HP:0000479	Abnormal retinal morphology	1258	CNGB1	OMIM:613767
HP:0000479	Abnormal retinal morphology	5995	RGR	OMIM:613769
HP:0000479	Abnormal retinal morphology	5373	PMM2	OMIM:212065
HP:0000479	Abnormal retinal morphology	5373	PMM2	ORPHA:79318
HP:0000479	Abnormal retinal morphology	491	ATP2B2	OMIM:601386
HP:0000479	Abnormal retinal morphology	1798	DPAGT1	ORPHA:86309
HP:0000479	Abnormal retinal morphology	7401	CLRN1	OMIM:614180
HP:0000479	Abnormal retinal morphology	7401	CLRN1	OMIM:268000
HP:0000479	Abnormal retinal morphology	7401	CLRN1	OMIM:276902
HP:0000479	Abnormal retinal morphology	10594	PRPF8	OMIM:600059
HP:0000479	Abnormal retinal morphology	25794	FSCN2	OMIM:607921
HP:0000479	Abnormal retinal morphology	4117	MAK	OMIM:614181
HP:0000479	Abnormal retinal morphology	5190	PEX6	OMIM:614863
HP:0000479	Abnormal retinal morphology	5190	PEX6	ORPHA:772
HP:0000479	Abnormal retinal morphology	5828	PEX2	OMIM:614866
HP:0000479	Abnormal retinal morphology	5828	PEX2	OMIM:614867
HP:0000479	Abnormal retinal morphology	5828	PEX2	ORPHA:772
HP:0000479	Abnormal retinal morphology	3098	HK1	OMIM:618547
HP:0000479	Abnormal retinal morphology	4191	MDH2	OMIM:617339
HP:0000479	Abnormal retinal morphology	6134	RPL10	ORPHA:459070
HP:0000479	Abnormal retinal morphology	6134	RPL10	OMIM:300998
HP:0000479	Abnormal retinal morphology	10518	CIB2	OMIM:614869
HP:0000479	Abnormal retinal morphology	6101	RP1	OMIM:180100
HP:0000479	Abnormal retinal morphology	124590	USH1G	OMIM:606943
HP:0000479	Abnormal retinal morphology	402	ARL2	OMIM:619082
HP:0000479	Abnormal retinal morphology	92211	CDHR1	OMIM:613660
HP:0000479	Abnormal retinal morphology	3420	IDH3B	OMIM:612572
HP:0000479	Abnormal retinal morphology	57709	SLC7A14	OMIM:615725
HP:0000479	Abnormal retinal morphology	388939	PCARE	OMIM:613428
HP:0000479	Abnormal retinal morphology	5191	PEX7	OMIM:614879
HP:0000479	Abnormal retinal morphology	5191	PEX7	OMIM:266500
HP:0000479	Abnormal retinal morphology	80025	PANK2	OMIM:607236
HP:0000479	Abnormal retinal morphology	80025	PANK2	ORPHA:216866
HP:0000479	Abnormal retinal morphology	7355	SLC35A2	OMIM:300896
HP:0000479	Abnormal retinal morphology	9319	TRIP13	OMIM:617598
HP:0000479	Abnormal retinal morphology	50484	RRM2B	OMIM:268315
HP:0000479	Abnormal retinal morphology	64218	SEMA4A	OMIM:610282
HP:0000479	Abnormal retinal morphology	64218	SEMA4A	OMIM:610283
HP:0000479	Abnormal retinal morphology	7867	MAPKAPK3	OMIM:617111
HP:0000479	Abnormal retinal morphology	6121	RPE65	OMIM:613794
HP:0000479	Abnormal retinal morphology	10002	NR2E3	OMIM:611131
HP:0000479	Abnormal retinal morphology	2625	GATA3	ORPHA:2237
HP:0000479	Abnormal retinal morphology	2779	GNAT1	OMIM:616389
HP:0000479	Abnormal retinal morphology	80173	IFT74	OMIM:617119
HP:0000479	Abnormal retinal morphology	29929	ALG6	ORPHA:79320
HP:0000479	Abnormal retinal morphology	3166	HMX1	OMIM:612109
HP:0000479	Abnormal retinal morphology	25981	DNAH1	ORPHA:244
HP:0000479	Abnormal retinal morphology	115948	ODAD3	ORPHA:244
HP:0000479	Abnormal retinal morphology	54768	HYDIN	ORPHA:244
HP:0000479	Abnormal retinal morphology	352909	DNAAF3	ORPHA:244
HP:0000479	Abnormal retinal morphology	27148	STK36	ORPHA:244
HP:0000479	Abnormal retinal morphology	51314	NME8	ORPHA:244
HP:0000479	Abnormal retinal morphology	92749	DRC1	ORPHA:244
HP:0000479	Abnormal retinal morphology	54970	TTC12	ORPHA:244
HP:0000479	Abnormal retinal morphology	152110	NEK10	ORPHA:244
HP:0000479	Abnormal retinal morphology	8481	OFD1	ORPHA:244
HP:0000479	Abnormal retinal morphology	8481	OFD1	OMIM:300424
HP:0000479	Abnormal retinal morphology	8481	OFD1	OMIM:300804
HP:0000479	Abnormal retinal morphology	2302	FOXJ1	ORPHA:244
HP:0000479	Abnormal retinal morphology	221421	RSPH9	ORPHA:244
HP:0000479	Abnormal retinal morphology	85478	CCDC65	ORPHA:244
HP:0000479	Abnormal retinal morphology	55036	CCDC40	ORPHA:244
HP:0000479	Abnormal retinal morphology	51364	ZMYND10	ORPHA:244
HP:0000479	Abnormal retinal morphology	64446	DNAI2	ORPHA:244
HP:0000479	Abnormal retinal morphology	6674	SPAG1	ORPHA:244
HP:0000479	Abnormal retinal morphology	83544	DNAL1	ORPHA:244
HP:0000479	Abnormal retinal morphology	89765	RSPH1	ORPHA:244
HP:0000479	Abnormal retinal morphology	83538	ODAD4	ORPHA:244
HP:0000479	Abnormal retinal morphology	200373	CFAP221	ORPHA:244
HP:0000479	Abnormal retinal morphology	374407	DNAJB13	ORPHA:244
HP:0000479	Abnormal retinal morphology	55172	DNAAF2	ORPHA:244
HP:0000479	Abnormal retinal morphology	161582	DNAAF4	ORPHA:244
HP:0000479	Abnormal retinal morphology	2622	GAS8	ORPHA:244
HP:0000479	Abnormal retinal morphology	23639	DNAAF11	ORPHA:244
HP:0000479	Abnormal retinal morphology	27019	DNAI1	ORPHA:244
HP:0000479	Abnormal retinal morphology	345895	RSPH4A	ORPHA:244
HP:0000479	Abnormal retinal morphology	54919	DNAAF5	ORPHA:244
HP:0000479	Abnormal retinal morphology	388389	CCDC103	ORPHA:244
HP:0000479	Abnormal retinal morphology	93233	ODAD1	ORPHA:244
HP:0000479	Abnormal retinal morphology	55130	ODAD2	ORPHA:244
HP:0000479	Abnormal retinal morphology	1767	DNAH5	ORPHA:244
HP:0000479	Abnormal retinal morphology	83861	RSPH3	ORPHA:244
HP:0000479	Abnormal retinal morphology	345643	MCIDAS	ORPHA:244
HP:0000479	Abnormal retinal morphology	56683	CFAP298	ORPHA:244
HP:0000479	Abnormal retinal morphology	79925	SPEF2	ORPHA:244
HP:0000479	Abnormal retinal morphology	10309	CCNO	ORPHA:244
HP:0000479	Abnormal retinal morphology	115399	LRRC56	ORPHA:244
HP:0000479	Abnormal retinal morphology	139212	DNAAF6	ORPHA:244
HP:0000479	Abnormal retinal morphology	123872	DNAAF1	ORPHA:244
HP:0000479	Abnormal retinal morphology	85016	CFAP300	ORPHA:244
HP:0000479	Abnormal retinal morphology	339829	CCDC39	ORPHA:244
HP:0000479	Abnormal retinal morphology	8701	DNAH11	ORPHA:244
HP:0000479	Abnormal retinal morphology	1770	DNAH9	ORPHA:244
HP:0000479	Abnormal retinal morphology	246176	GAS2L2	ORPHA:244
HP:0000479	Abnormal retinal morphology	3329	HSPD1	ORPHA:100994
HP:0000479	Abnormal retinal morphology	3798	KIF5A	ORPHA:100991
HP:0000479	Abnormal retinal morphology	26160	IFT172	OMIM:616394
HP:0000479	Abnormal retinal morphology	26160	IFT172	OMIM:619471
HP:0000479	Abnormal retinal morphology	9742	IFT140	OMIM:266920
HP:0000479	Abnormal retinal morphology	25861	WHRN	OMIM:611383
HP:0000479	Abnormal retinal morphology	55212	BBS7	OMIM:615984
HP:0000479	Abnormal retinal morphology	123016	TTC8	OMIM:615985
HP:0000479	Abnormal retinal morphology	123016	TTC8	OMIM:613464
HP:0000479	Abnormal retinal morphology	585	BBS4	OMIM:615982
HP:0000479	Abnormal retinal morphology	129880	BBS5	OMIM:615983
HP:0000479	Abnormal retinal morphology	166379	BBS12	OMIM:615989
HP:0000479	Abnormal retinal morphology	27241	BBS9	OMIM:615986
HP:0000479	Abnormal retinal morphology	79738	BBS10	OMIM:615987
HP:0000479	Abnormal retinal morphology	7287	TULP1	OMIM:600132
HP:0000479	Abnormal retinal morphology	26121	PRPF31	OMIM:600138
HP:0000479	Abnormal retinal morphology	196	AHR	OMIM:618345
HP:0000479	Abnormal retinal morphology	80184	CEP290	OMIM:615991
HP:0000479	Abnormal retinal morphology	80184	CEP290	OMIM:610188
HP:0000479	Abnormal retinal morphology	80184	CEP290	OMIM:610189
HP:0000479	Abnormal retinal morphology	9785	DHX38	OMIM:618220
HP:0000479	Abnormal retinal morphology	54903	MKS1	OMIM:615990
HP:0000479	Abnormal retinal morphology	5193	PEX12	OMIM:266510
HP:0000479	Abnormal retinal morphology	5193	PEX12	ORPHA:772
HP:0000479	Abnormal retinal morphology	92482	BBIP1	OMIM:615995
HP:0000479	Abnormal retinal morphology	89891	DYNC2I2	OMIM:615633
HP:0000479	Abnormal retinal morphology	11020	IFT27	OMIM:615996
HP:0000479	Abnormal retinal morphology	10806	SDCCAG8	OMIM:615993
HP:0000479	Abnormal retinal morphology	54585	LZTFL1	OMIM:615994
HP:0000479	Abnormal retinal morphology	23600	AMACR	OMIM:614307
HP:0000479	Abnormal retinal morphology	9227	LRAT	OMIM:268000
HP:0000479	Abnormal retinal morphology	9227	LRAT	OMIM:613341
HP:0000479	Abnormal retinal morphology	5148	PDE6G	OMIM:268000
HP:0000479	Abnormal retinal morphology	5148	PDE6G	OMIM:613582
HP:0000479	Abnormal retinal morphology	23746	AIPL1	OMIM:268000
HP:0000479	Abnormal retinal morphology	1406	CRX	OMIM:268000
HP:0000479	Abnormal retinal morphology	5264	PHYH	OMIM:266500
HP:0000479	Abnormal retinal morphology	50939	IMPG2	OMIM:613581
HP:0000479	Abnormal retinal morphology	60509	AGBL5	OMIM:617023
HP:0000479	Abnormal retinal morphology	443	ASPA	ORPHA:314918
HP:0000479	Abnormal retinal morphology	346007	EYS	OMIM:602772
HP:0000479	Abnormal retinal morphology	4694	NDUFA1	OMIM:301020
HP:0000479	Abnormal retinal morphology	27235	COQ2	OMIM:607426
HP:0000479	Abnormal retinal morphology	28982	FLVCR1	ORPHA:88628
HP:0000479	Abnormal retinal morphology	28982	FLVCR1	OMIM:609033
HP:0000479	Abnormal retinal morphology	4704	NDUFA9	OMIM:618247
HP:0000479	Abnormal retinal morphology	5631	PRPS1	OMIM:311070
HP:0000479	Abnormal retinal morphology	8120	AP3B2	OMIM:617276
HP:0000479	Abnormal retinal morphology	55975	KLHL7	OMIM:612943
HP:0000479	Abnormal retinal morphology	55975	KLHL7	OMIM:617055
HP:0000479	Abnormal retinal morphology	26146	TRAF3IP1	OMIM:616629
HP:0000479	Abnormal retinal morphology	2232	FDXR	OMIM:617717
HP:0000479	Abnormal retinal morphology	6102	RP2	OMIM:312600
HP:0000479	Abnormal retinal morphology	4647	MYO7A	OMIM:276900
HP:0000479	Abnormal retinal morphology	10083	USH1C	OMIM:276900
HP:0000479	Abnormal retinal morphology	10083	USH1C	OMIM:276904
HP:0000479	Abnormal retinal morphology	4547	MTTP	ORPHA:14
HP:0000479	Abnormal retinal morphology	7399	USH2A	OMIM:276901
HP:0000479	Abnormal retinal morphology	7399	USH2A	OMIM:613809
HP:0000479	Abnormal retinal morphology	79955	PDZD7	OMIM:276901
HP:0000479	Abnormal retinal morphology	79955	PDZD7	OMIM:605472
HP:0000479	Abnormal retinal morphology	23418	CRB1	OMIM:600105
HP:0000479	Abnormal retinal morphology	55857	KIZ	OMIM:615780
HP:0000479	Abnormal retinal morphology	149461	CLDN19	OMIM:248190
HP:0000479	Abnormal retinal morphology	8195	MKKS	OMIM:605231
HP:0000479	Abnormal retinal morphology	5158	PDE6B	OMIM:613801
HP:0000479	Abnormal retinal morphology	3028	HSD17B10	ORPHA:391428
HP:0000479	Abnormal retinal morphology	84059	ADGRV1	OMIM:605472
HP:0000479	Abnormal retinal morphology	23568	ARL2BP	OMIM:615434
HP:0000479	Abnormal retinal morphology	9894	TELO2	ORPHA:488642
HP:0000479	Abnormal retinal morphology	338	APOB	OMIM:615558
HP:0000479	Abnormal retinal morphology	5145	PDE6A	OMIM:613810
HP:0000479	Abnormal retinal morphology	10283	CWC27	OMIM:250410
HP:0000479	Abnormal retinal morphology	10283	CWC27	ORPHA:166035
HP:0000479	Abnormal retinal morphology	6011	GRK1	ORPHA:75382
HP:0000479	Abnormal retinal morphology	9129	PRPF3	OMIM:601414
HP:0000479	Abnormal retinal morphology	5189	PEX1	OMIM:601539
HP:0000479	Abnormal retinal morphology	5189	PEX1	ORPHA:772
HP:0000479	Abnormal retinal morphology	4751	NEK2	OMIM:615565
HP:0000479	Abnormal retinal morphology	9371	KIF3B	OMIM:618955
HP:0000479	Abnormal retinal morphology	617	BCS1L	OMIM:124000
HP:0000479	Abnormal retinal morphology	2979	GUCA1B	OMIM:613827
HP:0000479	Abnormal retinal morphology	9657	IQCB1	OMIM:609254
HP:0000479	Abnormal retinal morphology	55670	PEX26	ORPHA:772
HP:0000479	Abnormal retinal morphology	5824	PEX19	ORPHA:772
HP:0000479	Abnormal retinal morphology	8504	PEX3	ORPHA:772
HP:0000479	Abnormal retinal morphology	9409	PEX16	ORPHA:772
HP:0000479	Abnormal retinal morphology	8799	PEX11B	ORPHA:772
HP:0000479	Abnormal retinal morphology	5830	PEX5	ORPHA:772
HP:0000479	Abnormal retinal morphology	5194	PEX13	ORPHA:772
HP:0000479	Abnormal retinal morphology	5195	PEX14	ORPHA:772
HP:0000479	Abnormal retinal morphology	5192	PEX10	ORPHA:772
HP:0000479	Abnormal retinal morphology	51	ACOX1	OMIM:264470
HP:0000479	Abnormal retinal morphology	403	ARL3	OMIM:618161
HP:0000479	Abnormal retinal morphology	403	ARL3	OMIM:618173
HP:0000479	Abnormal retinal morphology	10210	TOPORS	OMIM:609923
HP:0000479	Abnormal retinal morphology	57728	WDR19	OMIM:616307
HP:0000479	Abnormal retinal morphology	57728	WDR19	OMIM:614378
HP:0000479	Abnormal retinal morphology	253827	MSRB3	OMIM:613718
HP:0000479	Abnormal retinal morphology	79644	SRD5A3	ORPHA:324737
HP:0000479	Abnormal retinal morphology	23404	EXOSC2	OMIM:617763
HP:0000479	Abnormal retinal morphology	375298	CERKL	OMIM:608380
HP:0000479	Abnormal retinal morphology	26123	TCTN3	ORPHA:564
HP:0000479	Abnormal retinal morphology	79867	TCTN2	ORPHA:564
HP:0000479	Abnormal retinal morphology	80776	B9D2	ORPHA:564
HP:0000479	Abnormal retinal morphology	79600	TCTN1	ORPHA:564
HP:0000479	Abnormal retinal morphology	79770	TXNDC15	ORPHA:564
HP:0000479	Abnormal retinal morphology	100147744	RNU7-1	OMIM:619487
HP:0000479	Abnormal retinal morphology	6399	TRAPPC2	ORPHA:93284
HP:0000479	Abnormal retinal morphology	286053	NSMCE2	OMIM:617253
HP:0000479	Abnormal retinal morphology	286053	NSMCE2	ORPHA:436182
HP:0000479	Abnormal retinal morphology	5351	PLOD1	OMIM:225400
HP:0000479	Abnormal retinal morphology	5351	PLOD1	ORPHA:1900
HP:0000479	Abnormal retinal morphology	1859	DYRK1A	ORPHA:268261
HP:0000479	Abnormal retinal morphology	1859	DYRK1A	ORPHA:464311
HP:0000479	Abnormal retinal morphology	4897	NRCAM	OMIM:619833
HP:0000479	Abnormal retinal morphology	2314	FLII	ORPHA:819
HP:0000479	Abnormal retinal morphology	23096	IQSEC2	ORPHA:819
HP:0000479	Abnormal retinal morphology	10743	RAI1	ORPHA:819
HP:0000479	Abnormal retinal morphology	10743	RAI1	OMIM:182290
HP:0000479	Abnormal retinal morphology	10522	DEAF1	ORPHA:819
HP:0000479	Abnormal retinal morphology	2200	FBN1	OMIM:154700
HP:0000479	Abnormal retinal morphology	2200	FBN1	ORPHA:2833
HP:0000479	Abnormal retinal morphology	1298	COL9A2	OMIM:614284
HP:0000479	Abnormal retinal morphology	1298	COL9A2	ORPHA:250984
HP:0000479	Abnormal retinal morphology	113189	CHST14	ORPHA:2953
HP:0000479	Abnormal retinal morphology	113189	CHST14	OMIM:601776
HP:0000479	Abnormal retinal morphology	29940	DSE	ORPHA:2953
HP:0000479	Abnormal retinal morphology	91851	CHRDL1	OMIM:309300
HP:0000479	Abnormal retinal morphology	79087	ALG12	OMIM:607143
HP:0000479	Abnormal retinal morphology	79087	ALG12	ORPHA:79324
HP:0000479	Abnormal retinal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000479	Abnormal retinal morphology	54507	ADAMTSL4	OMIM:225200
HP:0000479	Abnormal retinal morphology	10526	IPO8	OMIM:619472
HP:0000479	Abnormal retinal morphology	4810	NHS	ORPHA:627
HP:0000479	Abnormal retinal morphology	57105	CYSLTR2	ORPHA:39044
HP:0000479	Abnormal retinal morphology	2767	GNA11	ORPHA:39044
HP:0000479	Abnormal retinal morphology	2767	GNA11	ORPHA:1556
HP:0000479	Abnormal retinal morphology	23451	SF3B1	ORPHA:39044
HP:0000479	Abnormal retinal morphology	7518	XRCC4	ORPHA:436182
HP:0000479	Abnormal retinal morphology	11107	PRDM5	ORPHA:90354
HP:0000479	Abnormal retinal morphology	84627	ZNF469	ORPHA:90354
HP:0000479	Abnormal retinal morphology	151188	ARL6IP6	ORPHA:1556
HP:0000479	Abnormal retinal morphology	8974	P4HA2	OMIM:617238
HP:0000479	Abnormal retinal morphology	1302	COL11A2	ORPHA:1427
HP:0000479	Abnormal retinal morphology	84695	LOXL3	OMIM:619781
HP:0000479	Abnormal retinal morphology	84695	LOXL3	ORPHA:250984
HP:0000479	Abnormal retinal morphology	1297	COL9A1	ORPHA:250984
HP:0000479	Abnormal retinal morphology	1299	COL9A3	ORPHA:250984
HP:0000479	Abnormal retinal morphology	4053	LTBP2	ORPHA:98976
HP:0000479	Abnormal retinal morphology	7010	TEK	ORPHA:98976
HP:0000479	Abnormal retinal morphology	80036	TRPM3	OMIM:620253
HP:0000479	Abnormal retinal morphology	10681	GNB5	OMIM:617173
HP:0000479	Abnormal retinal morphology	10681	GNB5	ORPHA:542306
HP:0000479	Abnormal retinal morphology	54982	CLN6	OMIM:601780
HP:0000479	Abnormal retinal morphology	51741	WWOX	OMIM:616211
HP:0000479	Abnormal retinal morphology	51741	WWOX	OMIM:614322
HP:0000479	Abnormal retinal morphology	51741	WWOX	ORPHA:442835
HP:0000479	Abnormal retinal morphology	4081	MAB21L1	OMIM:618479
HP:0000479	Abnormal retinal morphology	1200	TPP1	OMIM:204500
HP:0000479	Abnormal retinal morphology	284086	NEK8	OMIM:613824
HP:0000479	Abnormal retinal morphology	4125	MAN2B1	OMIM:248500
HP:0000479	Abnormal retinal morphology	1203	CLN5	OMIM:256731
HP:0000479	Abnormal retinal morphology	1737	DLAT	ORPHA:79244
HP:0000479	Abnormal retinal morphology	3737	KCNA2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1759	DNM1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10991	SLC38A3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	51343	FZR1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	22906	TRAK1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2566	GABRG2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1917	EEF1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2561	GABRB2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	8831	SYNGAP1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	7532	YWHAG	ORPHA:442835
HP:0000479	Abnormal retinal morphology	79876	UBA5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6328	SCN3A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2558	GABRA5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	781	CACNA2D1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2906	GRIN2D	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10659	CELF2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	774	CACNA1B	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1213	CLTC	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23334	SZT2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	51412	ACTL6B	ORPHA:442835
HP:0000479	Abnormal retinal morphology	348980	HCN1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6506	SLC1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	8867	SYNJ1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2258	FGF13	ORPHA:442835
HP:0000479	Abnormal retinal morphology	477	ATP1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	3745	KCNB1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	284111	SLC13A5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	25977	NECAP1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	16	AARS1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6334	SCN8A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	22866	CNKSR2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	9568	GABBR2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2555	GABRA2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	55152	DALRD3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	773	CACNA1A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	26999	CYFIP2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	4915	NTRK2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	25973	PARS2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23097	CDK19	ORPHA:442835
HP:0000479	Abnormal retinal morphology	5530	PPP3CA	ORPHA:442835
HP:0000479	Abnormal retinal morphology	478	ATP1A3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10464	PIBF1	OMIM:617767
HP:0000479	Abnormal retinal morphology	80216	ALPK1	OMIM:614979
HP:0000479	Abnormal retinal morphology	27183	VPS4A	OMIM:619273
HP:0000479	Abnormal retinal morphology	55213	RCBTB1	OMIM:617175
HP:0000479	Abnormal retinal morphology	134218	DNAJC21	OMIM:617052
HP:0000479	Abnormal retinal morphology	4750	NEK1	OMIM:263520
HP:0000479	Abnormal retinal morphology	51524	TMEM138	OMIM:614465
HP:0000479	Abnormal retinal morphology	51524	TMEM138	ORPHA:2318
HP:0000479	Abnormal retinal morphology	51259	TMEM216	OMIM:608091
HP:0000479	Abnormal retinal morphology	51259	TMEM216	ORPHA:2318
HP:0000479	Abnormal retinal morphology	2896	GRN	OMIM:614706
HP:0000479	Abnormal retinal morphology	286	ANK1	ORPHA:251066
HP:0000479	Abnormal retinal morphology	1605	DAG1	ORPHA:370997
HP:0000479	Abnormal retinal morphology	1605	DAG1	OMIM:616538
HP:0000479	Abnormal retinal morphology	1605	DAG1	ORPHA:899
HP:0000479	Abnormal retinal morphology	4036	LRP2	OMIM:222448
HP:0000479	Abnormal retinal morphology	4036	LRP2	ORPHA:2143
HP:0000479	Abnormal retinal morphology	219854	TMEM218	OMIM:619562
HP:0000479	Abnormal retinal morphology	8882	ZPR1	OMIM:619321
HP:0000479	Abnormal retinal morphology	92002	CCNQ	ORPHA:140952
HP:0000479	Abnormal retinal morphology	23322	RPGRIP1L	OMIM:611560
HP:0000479	Abnormal retinal morphology	80210	ARMC9	OMIM:617622
HP:0000479	Abnormal retinal morphology	80055	PGAP1	OMIM:615802
HP:0000479	Abnormal retinal morphology	50	ACO2	OMIM:614559
HP:0000479	Abnormal retinal morphology	10560	SLC19A2	ORPHA:49827
HP:0000479	Abnormal retinal morphology	51010	EXOSC3	OMIM:614678
HP:0000479	Abnormal retinal morphology	84892	POMGNT2	ORPHA:899
HP:0000479	Abnormal retinal morphology	148789	B3GALNT2	ORPHA:899
HP:0000479	Abnormal retinal morphology	729920	CRPPA	ORPHA:899
HP:0000479	Abnormal retinal morphology	10329	RXYLT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	11041	B4GAT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	84197	POMK	ORPHA:899
HP:0000479	Abnormal retinal morphology	652	BMP4	ORPHA:139471
HP:0000479	Abnormal retinal morphology	652	BMP4	OMIM:607932
HP:0000479	Abnormal retinal morphology	5230	PGK1	OMIM:300653
HP:0000479	Abnormal retinal morphology	5230	PGK1	ORPHA:713
HP:0000479	Abnormal retinal morphology	23090	ZNF423	ORPHA:2318
HP:0000479	Abnormal retinal morphology	65062	TMEM237	ORPHA:2318
HP:0000479	Abnormal retinal morphology	55764	IFT122	OMIM:218330
HP:0000479	Abnormal retinal morphology	57531	HACE1	ORPHA:464282
HP:0000479	Abnormal retinal morphology	57531	HACE1	OMIM:616756
HP:0000479	Abnormal retinal morphology	283987	HID1	OMIM:619983
HP:0000479	Abnormal retinal morphology	4921	DDR2	OMIM:618175
HP:0000479	Abnormal retinal morphology	9445	ITM2B	OMIM:616079
HP:0000479	Abnormal retinal morphology	1410	CRYAB	OMIM:613763
HP:0000479	Abnormal retinal morphology	5950	RBP4	OMIM:615147
HP:0000479	Abnormal retinal morphology	9935	MAFB	ORPHA:233
HP:0000479	Abnormal retinal morphology	1123	CHN1	ORPHA:233
HP:0000479	Abnormal retinal morphology	64840	PORCN	OMIM:305600
HP:0000479	Abnormal retinal morphology	64840	PORCN	ORPHA:2092
HP:0000479	Abnormal retinal morphology	8260	NAA10	OMIM:309800
HP:0000479	Abnormal retinal morphology	8260	NAA10	ORPHA:568
HP:0000479	Abnormal retinal morphology	54880	BCOR	OMIM:309800
HP:0000479	Abnormal retinal morphology	54880	BCOR	ORPHA:568
HP:0000479	Abnormal retinal morphology	6711	SPTBN1	OMIM:619475
HP:0000479	Abnormal retinal morphology	10413	YAP1	OMIM:120433
HP:0000479	Abnormal retinal morphology	10413	YAP1	ORPHA:1473
HP:0000479	Abnormal retinal morphology	6469	SHH	OMIM:611638
HP:0000479	Abnormal retinal morphology	79759	ZNF668	OMIM:620194
HP:0000479	Abnormal retinal morphology	6299	SALL1	OMIM:107480
HP:0000479	Abnormal retinal morphology	6299	SALL1	ORPHA:857
HP:0000479	Abnormal retinal morphology	64412	GZF1	OMIM:617662
HP:0000479	Abnormal retinal morphology	3149	HMGB3	OMIM:300915
HP:0000479	Abnormal retinal morphology	51339	DACT1	ORPHA:857
HP:0000479	Abnormal retinal morphology	9723	SEMA3E	ORPHA:138
HP:0000479	Abnormal retinal morphology	113246	C12orf57	OMIM:218340
HP:0000479	Abnormal retinal morphology	51322	WAC	ORPHA:284169
HP:0000479	Abnormal retinal morphology	473	RERE	ORPHA:494344
HP:0000479	Abnormal retinal morphology	57020	VPS35L	OMIM:619135
HP:0000479	Abnormal retinal morphology	55733	HHAT	ORPHA:1422
HP:0000479	Abnormal retinal morphology	6496	SIX3	OMIM:157170
HP:0000479	Abnormal retinal morphology	50945	TBX22	ORPHA:921
HP:0000479	Abnormal retinal morphology	9897	WASHC5	ORPHA:7
HP:0000479	Abnormal retinal morphology	28952	CCDC22	ORPHA:7
HP:0000479	Abnormal retinal morphology	2639	GCDH	ORPHA:25
HP:0000479	Abnormal retinal morphology	5551	PRF1	ORPHA:88
HP:0000479	Abnormal retinal morphology	7012	TERC	ORPHA:88
HP:0000479	Abnormal retinal morphology	51119	SBDS	ORPHA:88
HP:0000479	Abnormal retinal morphology	4615	MYD88	ORPHA:33226
HP:0000479	Abnormal retinal morphology	1785	DNM2	OMIM:615368
HP:0000479	Abnormal retinal morphology	667	DST	OMIM:614653
HP:0000479	Abnormal retinal morphology	4558	MT-TF	ORPHA:550
HP:0000479	Abnormal retinal morphology	4572	MT-TQ	ORPHA:550
HP:0000479	Abnormal retinal morphology	4513	MT-CO2	ORPHA:550
HP:0000479	Abnormal retinal morphology	4574	MT-TS1	ORPHA:550
HP:0000479	Abnormal retinal morphology	4574	MT-TS1	OMIM:220110
HP:0000479	Abnormal retinal morphology	4575	MT-TS2	ORPHA:550
HP:0000479	Abnormal retinal morphology	4564	MT-TH	ORPHA:550
HP:0000479	Abnormal retinal morphology	54892	NCAPG2	OMIM:618460
HP:0000479	Abnormal retinal morphology	4570	MT-TN	OMIM:220110
HP:0000479	Abnormal retinal morphology	246243	RNASEH1	ORPHA:329336
HP:0000479	Abnormal retinal morphology	84334	COA8	ORPHA:436271
HP:0000479	Abnormal retinal morphology	51103	NDUFAF1	OMIM:618234
HP:0000479	Abnormal retinal morphology	55768	NGLY1	ORPHA:404454
HP:0000479	Abnormal retinal morphology	29925	GMPPB	ORPHA:370968
HP:0000479	Abnormal retinal morphology	1351	COX8A	OMIM:619059
HP:0000479	Abnormal retinal morphology	55154	MSTO1	OMIM:617675
HP:0000479	Abnormal retinal morphology	55154	MSTO1	ORPHA:502423
HP:0000479	Abnormal retinal morphology	80201	HKDC1	OMIM:619614
HP:0000479	Abnormal retinal morphology	80324	PUS1	OMIM:600462
HP:0000479	Abnormal retinal morphology	7466	WFS1	OMIM:222300
HP:0000479	Abnormal retinal morphology	857	CAV1	OMIM:606721
HP:0000479	Abnormal retinal morphology	51102	MECR	OMIM:617282
HP:0000479	Abnormal retinal morphology	4591	TRIM37	OMIM:253250
HP:0000479	Abnormal retinal morphology	51057	WDPCP	ORPHA:110
HP:0000479	Abnormal retinal morphology	84984	CEP19	ORPHA:110
HP:0000479	Abnormal retinal morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0000479	Abnormal retinal morphology	81689	ISCA1	OMIM:617613
HP:0000479	Abnormal retinal morphology	3032	HADHB	ORPHA:746
HP:0000479	Abnormal retinal morphology	200894	ARL13B	OMIM:612291
HP:0000479	Abnormal retinal morphology	182	JAG1	OMIM:118450
HP:0000479	Abnormal retinal morphology	3033	HADH	ORPHA:71212
HP:0000479	Abnormal retinal morphology	11128	POLR3A	ORPHA:3455
HP:0000479	Abnormal retinal morphology	9968	MED12	OMIM:301068
HP:0000479	Abnormal retinal morphology	6389	SDHA	ORPHA:255241
HP:0000479	Abnormal retinal morphology	6389	SDHA	ORPHA:3208
HP:0000479	Abnormal retinal morphology	6389	SDHA	OMIM:252011
HP:0000479	Abnormal retinal morphology	80704	SLC19A3	ORPHA:255241
HP:0000479	Abnormal retinal morphology	91942	NDUFAF2	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4723	NDUFV1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	55572	FOXRED1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4729	NDUFV2	ORPHA:255241
HP:0000479	Abnormal retinal morphology	55967	NDUFA12	ORPHA:255241
HP:0000479	Abnormal retinal morphology	51204	TACO1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4724	NDUFS4	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4728	NDUFS8	ORPHA:255241
HP:0000479	Abnormal retinal morphology	137682	NDUFAF6	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4722	NDUFS3	ORPHA:255241
HP:0000479	Abnormal retinal morphology	79133	NDUFAF5	ORPHA:255241
HP:0000479	Abnormal retinal morphology	5160	PDHA1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	100131801	PET100	ORPHA:255241
HP:0000479	Abnormal retinal morphology	1892	ECHS1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	123263	MTFMT	ORPHA:255241
HP:0000479	Abnormal retinal morphology	51079	NDUFA13	ORPHA:255241
HP:0000479	Abnormal retinal morphology	374291	NDUFS7	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4705	NDUFA10	ORPHA:255241
HP:0000479	Abnormal retinal morphology	51601	LIPT1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4719	NDUFS1	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4695	NDUFA2	ORPHA:255241
HP:0000479	Abnormal retinal morphology	4697	NDUFA4	ORPHA:255241
HP:0000479	Abnormal retinal morphology	2937	GSS	OMIM:266130
HP:0000479	Abnormal retinal morphology	326	AIRE	OMIM:240300
HP:0000479	Abnormal retinal morphology	6390	SDHB	ORPHA:3208
HP:0000479	Abnormal retinal morphology	6392	SDHD	ORPHA:3208
HP:0000479	Abnormal retinal morphology	644096	SDHAF1	ORPHA:3208
HP:0000479	Abnormal retinal morphology	5052	PRDX1	OMIM:277400
HP:0000479	Abnormal retinal morphology	735	C9	OMIM:615591
HP:0000479	Abnormal retinal morphology	5654	HTRA1	OMIM:610149
HP:0000479	Abnormal retinal morphology	1471	CST3	OMIM:611953
HP:0000479	Abnormal retinal morphology	6314	ATXN7	OMIM:164500
HP:0000479	Abnormal retinal morphology	6314	ATXN7	ORPHA:94147
HP:0000479	Abnormal retinal morphology	80208	SPG11	OMIM:604360
HP:0000479	Abnormal retinal morphology	427	ASAH1	ORPHA:333
HP:0000479	Abnormal retinal morphology	55129	ANO10	ORPHA:284289
HP:0000479	Abnormal retinal morphology	5538	PPT1	OMIM:256730
HP:0000479	Abnormal retinal morphology	84131	CEP78	OMIM:617236
HP:0000479	Abnormal retinal morphology	404672	GTF2H5	ORPHA:33364
HP:0000479	Abnormal retinal morphology	833	CARS1	ORPHA:33364
HP:0000479	Abnormal retinal morphology	7737	RNF113A	ORPHA:33364
HP:0000479	Abnormal retinal morphology	136647	MPLKIP	ORPHA:33364
HP:0000479	Abnormal retinal morphology	6897	TARS1	ORPHA:33364
HP:0000479	Abnormal retinal morphology	2071	ERCC3	ORPHA:33364
HP:0000479	Abnormal retinal morphology	2961	GTF2E2	ORPHA:33364
HP:0000479	Abnormal retinal morphology	3980	LIG3	OMIM:619780
HP:0000479	Abnormal retinal morphology	5062	PAK2	ORPHA:1571
HP:0000479	Abnormal retinal morphology	5167	ENPP1	ORPHA:51608
HP:0000479	Abnormal retinal morphology	368	ABCC6	ORPHA:51608
HP:0000479	Abnormal retinal morphology	344	APOC2	OMIM:207750
HP:0000479	Abnormal retinal morphology	2538	G6PC1	OMIM:232200
HP:0000479	Abnormal retinal morphology	338328	GPIHBP1	OMIM:615947
HP:0000479	Abnormal retinal morphology	4023	LPL	OMIM:238600
HP:0000479	Abnormal retinal morphology	2542	SLC37A4	OMIM:232220
HP:0000479	Abnormal retinal morphology	3291	HSD11B2	ORPHA:320
HP:0000479	Abnormal retinal morphology	3291	HSD11B2	OMIM:218030
HP:0000479	Abnormal retinal morphology	1788	DNMT3A	ORPHA:276621
HP:0000479	Abnormal retinal morphology	2034	EPAS1	ORPHA:276621
HP:0000479	Abnormal retinal morphology	2591	GALNT3	OMIM:211900
HP:0000479	Abnormal retinal morphology	5290	PIK3CA	OMIM:615108
HP:0000479	Abnormal retinal morphology	6609	SMPD1	OMIM:607616
HP:0000479	Abnormal retinal morphology	8943	AP3D1	ORPHA:54
HP:0000479	Abnormal retinal morphology	4935	GPR143	ORPHA:54
HP:0000479	Abnormal retinal morphology	8813	DPM1	OMIM:608799
HP:0000479	Abnormal retinal morphology	9382	COG1	ORPHA:263508
HP:0000479	Abnormal retinal morphology	10682	EBP	OMIM:300960
HP:0000479	Abnormal retinal morphology	79803	HPS6	OMIM:614075
HP:0000479	Abnormal retinal morphology	1806	DPYD	ORPHA:1675
HP:0000479	Abnormal retinal morphology	8777	MPDZ	OMIM:615219
HP:0000479	Abnormal retinal morphology	4094	MAF	OMIM:610202
HP:0000479	Abnormal retinal morphology	22901	ARSG	OMIM:618144
HP:0000479	Abnormal retinal morphology	406987	MIR204	OMIM:616722
HP:0000479	Abnormal retinal morphology	10273	STUB1	ORPHA:412057
HP:0000479	Abnormal retinal morphology	171023	ASXL1	ORPHA:97297
HP:0000479	Abnormal retinal morphology	284217	LAMA1	OMIM:615960
HP:0000479	Abnormal retinal morphology	284217	LAMA1	ORPHA:370022
HP:0000479	Abnormal retinal morphology	56623	INPP5E	ORPHA:75858
HP:0000479	Abnormal retinal morphology	760	CA2	ORPHA:2785
HP:0000479	Abnormal retinal morphology	29954	POMT2	OMIM:236670
HP:0000479	Abnormal retinal morphology	9215	LARGE1	OMIM:236670
HP:0000479	Abnormal retinal morphology	79147	FKRP	OMIM:236670
HP:0000479	Abnormal retinal morphology	10585	POMT1	OMIM:236670
HP:0000479	Abnormal retinal morphology	2218	FKTN	OMIM:236670
HP:0000479	Abnormal retinal morphology	55714	TENM3	OMIM:615145
HP:0000479	Abnormal retinal morphology	89910	UBE3B	ORPHA:2707
HP:0000479	Abnormal retinal morphology	84168	ANTXR1	OMIM:230740
HP:0000479	Abnormal retinal morphology	6804	STX1A	ORPHA:904
HP:0000479	Abnormal retinal morphology	7461	CLIP2	ORPHA:904
HP:0000479	Abnormal retinal morphology	8468	FKBP6	ORPHA:904
HP:0000479	Abnormal retinal morphology	5982	RFC2	ORPHA:904
HP:0000479	Abnormal retinal morphology	2969	GTF2I	ORPHA:904
HP:0000479	Abnormal retinal morphology	3984	LIMK1	ORPHA:904
HP:0000479	Abnormal retinal morphology	9569	GTF2IRD1	ORPHA:904
HP:0000479	Abnormal retinal morphology	155382	VPS37D	ORPHA:904
HP:0000479	Abnormal retinal morphology	155368	METTL27	ORPHA:904
HP:0000479	Abnormal retinal morphology	114049	BUD23	ORPHA:904
HP:0000479	Abnormal retinal morphology	7458	EIF4H	ORPHA:904
HP:0000479	Abnormal retinal morphology	84163	GTF2IRD2	ORPHA:904
HP:0000479	Abnormal retinal morphology	9275	BCL7B	ORPHA:904
HP:0000479	Abnormal retinal morphology	26608	TBL2	ORPHA:904
HP:0000479	Abnormal retinal morphology	653361	NCF1	ORPHA:904
HP:0000479	Abnormal retinal morphology	135886	TMEM270	ORPHA:904
HP:0000479	Abnormal retinal morphology	51085	MLXIPL	ORPHA:904
HP:0000479	Abnormal retinal morphology	51085	MLXIPL	OMIM:194050
HP:0000479	Abnormal retinal morphology	9031	BAZ1B	ORPHA:904
HP:0000479	Abnormal retinal morphology	2006	ELN	ORPHA:904
HP:0000479	Abnormal retinal morphology	2006	ELN	OMIM:194050
HP:0000479	Abnormal retinal morphology	1312	COMT	ORPHA:567
HP:0000479	Abnormal retinal morphology	221037	JMJD1C	ORPHA:567
HP:0000479	Abnormal retinal morphology	2812	GP1BB	ORPHA:567
HP:0000479	Abnormal retinal morphology	6239	RREB1	ORPHA:567
HP:0000479	Abnormal retinal morphology	7290	HIRA	ORPHA:567
HP:0000479	Abnormal retinal morphology	9632	SEC24C	ORPHA:567
HP:0000479	Abnormal retinal morphology	7353	UFD1	ORPHA:567
HP:0000479	Abnormal retinal morphology	421	ARVCF	ORPHA:567
HP:0000479	Abnormal retinal morphology	8565	YARS1	OMIM:619418
HP:0000479	Abnormal retinal morphology	2629	GBA1	OMIM:230800
HP:0000479	Abnormal retinal morphology	169522	KCNV2	OMIM:610356
HP:0000479	Abnormal retinal morphology	2263	FGFR2	ORPHA:313855
HP:0000479	Abnormal retinal morphology	83696	TRAPPC9	ORPHA:352530
HP:0000479	Abnormal retinal morphology	388015	RTL1	ORPHA:96334
HP:0000479	Abnormal retinal morphology	8788	DLK1	ORPHA:96334
HP:0000479	Abnormal retinal morphology	55384	MEG3	ORPHA:96334
HP:0000479	Abnormal retinal morphology	875	CBS	ORPHA:394
HP:0000479	Abnormal retinal morphology	54806	AHI1	ORPHA:791
HP:0000479	Abnormal retinal morphology	8100	IFT88	ORPHA:791
HP:0000479	Abnormal retinal morphology	762	CA4	ORPHA:791
HP:0000479	Abnormal retinal morphology	23370	ARHGEF18	ORPHA:791
HP:0000479	Abnormal retinal morphology	55624	POMGNT1	ORPHA:791
HP:0000479	Abnormal retinal morphology	3617	IMPG1	ORPHA:791
HP:0000479	Abnormal retinal morphology	6873	TAF2	ORPHA:397951
HP:0000479	Abnormal retinal morphology	63916	ELMO2	ORPHA:3019
HP:0000479	Abnormal retinal morphology	5956	OPN1LW	ORPHA:1872
HP:0000479	Abnormal retinal morphology	5956	OPN1LW	ORPHA:16
HP:0000479	Abnormal retinal morphology	778	CACNA1F	ORPHA:1872
HP:0000479	Abnormal retinal morphology	778	CACNA1F	ORPHA:215
HP:0000479	Abnormal retinal morphology	8754	ADAM9	ORPHA:1872
HP:0000479	Abnormal retinal morphology	22999	RIMS1	ORPHA:1872
HP:0000479	Abnormal retinal morphology	128338	DRAM2	ORPHA:1872
HP:0000479	Abnormal retinal morphology	2652	OPN1MW	ORPHA:1872
HP:0000479	Abnormal retinal morphology	2652	OPN1MW	ORPHA:16
HP:0000479	Abnormal retinal morphology	9094	UNC119	ORPHA:1872
HP:0000479	Abnormal retinal morphology	93589	CACNA2D4	ORPHA:1872
HP:0000479	Abnormal retinal morphology	93589	CACNA2D4	ORPHA:215
HP:0000479	Abnormal retinal morphology	282809	POC1B	ORPHA:1872
HP:0000479	Abnormal retinal morphology	83394	PITPNM3	ORPHA:1872
HP:0000479	Abnormal retinal morphology	23093	TTLL5	ORPHA:1872
HP:0000479	Abnormal retinal morphology	9364	RAB28	ORPHA:1872
HP:0000479	Abnormal retinal morphology	22880	MORC2	ORPHA:466768
HP:0000479	Abnormal retinal morphology	1908	EDN3	ORPHA:897
HP:0000479	Abnormal retinal morphology	4286	MITF	ORPHA:897
HP:0000479	Abnormal retinal morphology	1910	EDNRB	ORPHA:897
HP:0000479	Abnormal retinal morphology	6663	SOX10	ORPHA:897
HP:0000479	Abnormal retinal morphology	5080	PAX6	ORPHA:35737
HP:0000479	Abnormal retinal morphology	65082	VPS33A	ORPHA:505248
HP:0000479	Abnormal retinal morphology	26022	TMEM98	ORPHA:35612
HP:0000479	Abnormal retinal morphology	6657	SOX2	ORPHA:35612
HP:0000479	Abnormal retinal morphology	220	ALDH1A3	ORPHA:35612
HP:0000479	Abnormal retinal morphology	646960	PRSS56	ORPHA:35612
HP:0000479	Abnormal retinal morphology	30062	RAX	ORPHA:35612
HP:0000479	Abnormal retinal morphology	5015	OTX2	ORPHA:35612
HP:0000479	Abnormal retinal morphology	4990	SIX6	ORPHA:35612
HP:0000479	Abnormal retinal morphology	6023	RMRP	ORPHA:175
HP:0000479	Abnormal retinal morphology	2068	ERCC2	ORPHA:1466
HP:0000479	Abnormal retinal morphology	2067	ERCC1	ORPHA:1466
HP:0000479	Abnormal retinal morphology	2074	ERCC6	ORPHA:1466
HP:0000479	Abnormal retinal morphology	2073	ERCC5	ORPHA:1466
HP:0000479	Abnormal retinal morphology	3423	IDS	ORPHA:217085
HP:0000479	Abnormal retinal morphology	3423	IDS	ORPHA:217093
HP:0000479	Abnormal retinal morphology	3423	IDS	OMIM:309900
HP:0000479	Abnormal retinal morphology	54539	NDUFB11	ORPHA:2556
HP:0000479	Abnormal retinal morphology	1349	COX7B	ORPHA:2556
HP:0000479	Abnormal retinal morphology	3052	HCCS	ORPHA:2556
HP:0000479	Abnormal retinal morphology	1130	LYST	ORPHA:167
HP:0000479	Abnormal retinal morphology	7274	TTPA	ORPHA:96
HP:0000479	Abnormal retinal morphology	54476	RNF216	ORPHA:1173
HP:0000479	Abnormal retinal morphology	10908	PNPLA6	ORPHA:1173
HP:0000479	Abnormal retinal morphology	4000	LMNA	ORPHA:79474
HP:0000479	Abnormal retinal morphology	2202	EFEMP1	ORPHA:75376
HP:0000479	Abnormal retinal morphology	3075	CFH	ORPHA:75376
HP:0000479	Abnormal retinal morphology	3426	CFI	ORPHA:75376
HP:0000479	Abnormal retinal morphology	55112	DYNC2I1	ORPHA:474
HP:0000479	Abnormal retinal morphology	153241	CEP120	ORPHA:474
HP:0000479	Abnormal retinal morphology	57560	IFT80	ORPHA:474
HP:0000479	Abnormal retinal morphology	51626	DYNC2LI1	ORPHA:474
HP:0000479	Abnormal retinal morphology	79659	DYNC2H1	ORPHA:474
HP:0000479	Abnormal retinal morphology	79809	TTC21B	ORPHA:474
HP:0000479	Abnormal retinal morphology	343035	RD3	ORPHA:65
HP:0000479	Abnormal retinal morphology	10383	TUBB4B	ORPHA:65
HP:0000479	Abnormal retinal morphology	5130	PCYT1A	ORPHA:65
HP:0000479	Abnormal retinal morphology	5130	PCYT1A	ORPHA:85167
HP:0000479	Abnormal retinal morphology	392255	GDF6	ORPHA:65
HP:0000479	Abnormal retinal morphology	6197	RPS6KA3	ORPHA:192
HP:0000479	Abnormal retinal morphology	157680	VPS13B	ORPHA:193
HP:0000479	Abnormal retinal morphology	7486	WRN	ORPHA:902
HP:0000479	Abnormal retinal morphology	63895	PIEZO2	OMIM:108145
HP:0000479	Abnormal retinal morphology	5184	PEPD	ORPHA:742
HP:0000479	Abnormal retinal morphology	5728	PTEN	ORPHA:744
HP:0000479	Abnormal retinal morphology	207	AKT1	ORPHA:744
HP:0000479	Abnormal retinal morphology	285362	SUMF1	ORPHA:585
HP:0000479	Abnormal retinal morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000479	Abnormal retinal morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000479	Abnormal retinal morphology	3832	KIF11	ORPHA:2526
HP:0000479	Abnormal retinal morphology	1356	CP	ORPHA:48818
HP:0000479	Abnormal retinal morphology	4308	TRPM1	ORPHA:215
HP:0000479	Abnormal retinal morphology	57010	CABP4	ORPHA:215
HP:0000479	Abnormal retinal morphology	345193	LRIT3	ORPHA:215
HP:0000479	Abnormal retinal morphology	2916	GRM6	ORPHA:215
HP:0000479	Abnormal retinal morphology	440435	GPR179	ORPHA:215
HP:0000479	Abnormal retinal morphology	2784	GNB3	ORPHA:215
HP:0000479	Abnormal retinal morphology	60506	NYX	ORPHA:215
HP:0000479	Abnormal retinal morphology	57192	MCOLN1	ORPHA:578
HP:0000479	Abnormal retinal morphology	85378	TUBGCP6	ORPHA:2518
HP:0000479	Abnormal retinal morphology	85378	TUBGCP6	OMIM:251270
HP:0000479	Abnormal retinal morphology	27229	TUBGCP4	ORPHA:2518
HP:0000479	Abnormal retinal morphology	10733	PLK4	ORPHA:2518
HP:0000479	Abnormal retinal morphology	2317	FLNB	OMIM:272460
HP:0000479	Abnormal retinal morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0000479	Abnormal retinal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000479	Abnormal retinal morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000479	Abnormal retinal morphology	22931	RAB18	ORPHA:2510
HP:0000479	Abnormal retinal morphology	128637	TBC1D20	ORPHA:2510
HP:0000479	Abnormal retinal morphology	201163	FLCN	ORPHA:122
HP:0000479	Abnormal retinal morphology	3030	HADHA	ORPHA:5
HP:0000479	Abnormal retinal morphology	4509	MT-ATP8	ORPHA:480
HP:0000479	Abnormal retinal morphology	9990	SLC12A6	ORPHA:1496
HP:0000479	Abnormal retinal morphology	57724	EPG5	ORPHA:1493
HP:0000479	Abnormal retinal morphology	27130	INVS	ORPHA:3156
HP:0000479	Abnormal retinal morphology	4867	NPHP1	ORPHA:3156
HP:0000479	Abnormal retinal morphology	27031	NPHP3	ORPHA:3156
HP:0000479	Abnormal retinal morphology	22897	CEP164	ORPHA:3156
HP:0000479	Abnormal retinal morphology	4157	MC1R	ORPHA:79432
HP:0000479	Abnormal retinal morphology	4948	OCA2	ORPHA:79432
HP:0000479	Abnormal retinal morphology	7299	TYR	ORPHA:79434
HP:0000479	Abnormal retinal morphology	51151	SLC45A2	ORPHA:79435
HP:0000479	Abnormal retinal morphology	1001	CDH3	ORPHA:1897
HP:0000479	Abnormal retinal morphology	7840	ALMS1	ORPHA:64
HP:0000479	Abnormal retinal morphology	285440	CYP4V2	ORPHA:41751
HP:0000479	Abnormal retinal morphology	6785	ELOVL4	ORPHA:827
HP:0000479	Abnormal retinal morphology	6247	RS1	OMIM:312700
HP:0000479	Abnormal retinal morphology	224	ALDH3A2	OMIM:270200
HP:0000479	Abnormal retinal morphology	83552	MFRP	OMIM:611040
HP:0000479	Abnormal retinal morphology	7078	TIMP3	ORPHA:59181
HP:0000479	Abnormal retinal morphology	1462	VCAN	OMIM:143200
HP:0000479	Abnormal retinal morphology	4952	OCRL	ORPHA:534
HP:0000479	Abnormal retinal morphology	63915	BLOC1S5	OMIM:619172
HP:0000479	Abnormal retinal morphology	57479	PRR12	OMIM:619539
HP:0000479	Abnormal retinal morphology	7360	UGP2	OMIM:618744
HP:0000479	Abnormal retinal morphology	92154	MTSS2	OMIM:620086
HP:0000479	Abnormal retinal morphology	89781	HPS4	OMIM:614073
HP:0000479	Abnormal retinal morphology	11234	HPS5	OMIM:614074
HP:0000479	Abnormal retinal morphology	388552	BLOC1S3	OMIM:614077
HP:0000479	Abnormal retinal morphology	9573	GDF3	OMIM:613703
HP:0000479	Abnormal retinal morphology	60386	SLC25A19	OMIM:607196
HP:0000479	Abnormal retinal morphology	4166	CHST6	OMIM:217800
HP:0000479	Abnormal retinal morphology	93426	SYCE1	OMIM:616947
HP:0000479	Abnormal retinal morphology	2658	GDF2	ORPHA:774
HP:0000479	Abnormal retinal morphology	4089	SMAD4	ORPHA:774
HP:0000479	Abnormal retinal morphology	2022	ENG	ORPHA:774
HP:0000479	Abnormal retinal morphology	29072	SETD2	OMIM:620157
HP:0000479	Abnormal retinal morphology	29072	SETD2	OMIM:620155
HP:0000479	Abnormal retinal morphology	79991	STN1	OMIM:617341
HP:0000479	Abnormal retinal morphology	5111	PCNA	ORPHA:438134
HP:0000479	Abnormal retinal morphology	85465	SELENOI	ORPHA:506353
HP:0000479	Abnormal retinal morphology	1497	CTNS	OMIM:219800
HP:0000479	Abnormal retinal morphology	1497	CTNS	OMIM:219900
HP:0000479	Abnormal retinal morphology	4683	NBN	OMIM:251260
HP:0000479	Abnormal retinal morphology	1182	CLCN3	OMIM:619517
HP:0000479	Abnormal retinal morphology	4329	ALDH6A1	OMIM:614105
HP:0000479	Abnormal retinal morphology	23761	PISD	OMIM:618889
HP:0000479	Abnormal retinal morphology	5428	POLG	OMIM:607459
HP:0000479	Abnormal retinal morphology	56652	TWNK	OMIM:607459
HP:0000479	Abnormal retinal morphology	27072	VPS41	OMIM:619389
HP:0000479	Abnormal retinal morphology	51098	IFT52	OMIM:617102
HP:0000479	Abnormal retinal morphology	8449	DHX16	OMIM:618733
HP:0000479	Abnormal retinal morphology	1161	ERCC8	OMIM:216400
HP:0000479	Abnormal retinal morphology	1121	CHM	OMIM:303100
HP:0000479	Abnormal retinal morphology	94137	RP1L1	OMIM:618826
HP:0000479	Abnormal retinal morphology	3035	HARS1	OMIM:614504
HP:0000479	Abnormal retinal morphology	84839	RAX2	OMIM:620102
HP:0000479	Abnormal retinal morphology	25914	RTTN	ORPHA:468631
HP:0000479	Abnormal retinal morphology	80781	COL18A1	OMIM:267750
HP:0000479	Abnormal retinal morphology	49855	SCAPER	OMIM:618195
HP:0000479	Abnormal retinal morphology	5959	RDH5	ORPHA:52427
HP:0000479	Abnormal retinal morphology	55812	SPATA7	ORPHA:364055
HP:0000479	Abnormal retinal morphology	167691	LCA5	ORPHA:364055
HP:0000479	Abnormal retinal morphology	64801	ARV1	OMIM:617020
HP:0000479	Abnormal retinal morphology	3419	IDH3A	OMIM:619007
HP:0000479	Abnormal retinal morphology	85015	USP45	OMIM:618513
HP:0000479	Abnormal retinal morphology	57096	RPGRIP1	OMIM:613826
HP:0000479	Abnormal retinal morphology	6742	SSBP1	OMIM:165510
HP:0000479	Abnormal retinal morphology	22926	ATF6	ORPHA:49382
HP:0000479	Abnormal retinal morphology	5146	PDE6C	ORPHA:49382
HP:0000479	Abnormal retinal morphology	5149	PDE6H	ORPHA:49382
HP:0000479	Abnormal retinal morphology	2780	GNAT2	ORPHA:49382
HP:0000479	Abnormal retinal morphology	1261	CNGA3	ORPHA:49382
HP:0000479	Abnormal retinal morphology	54714	CNGB3	ORPHA:49382
HP:0000479	Abnormal retinal morphology	83723	TLCD3B	OMIM:619531
HP:0000479	Abnormal retinal morphology	112752	IFT43	OMIM:617871
HP:0000479	Abnormal retinal morphology	7275	TUB	OMIM:616188
HP:0000479	Abnormal retinal morphology	9187	SLC24A1	OMIM:613830
HP:0000479	Abnormal retinal morphology	26504	CNNM4	OMIM:217080
HP:0000479	Abnormal retinal morphology	6533	SLC6A6	OMIM:145350
HP:0000479	Abnormal retinal morphology	64802	NMNAT1	OMIM:608553
HP:0000479	Abnormal retinal morphology	64802	NMNAT1	OMIM:619260
HP:0000479	Abnormal retinal morphology	2072	ERCC4	OMIM:610965
HP:0000479	Abnormal retinal morphology	23155	CLCC1	OMIM:609913
HP:0000479	Abnormal retinal morphology	116150	NUS1	OMIM:617082
HP:0000479	Abnormal retinal morphology	2257	FGF12	OMIM:617166
HP:0000479	Abnormal retinal morphology	57670	KIAA1549	OMIM:618613
HP:0000479	Abnormal retinal morphology	145226	RDH12	OMIM:612712
HP:0000479	Abnormal retinal morphology	63901	FAM111A	OMIM:127000
HP:0000479	Abnormal retinal morphology	63901	FAM111A	ORPHA:93325
HP:0000479	Abnormal retinal morphology	59	ACTA2	OMIM:613834
HP:0000479	Abnormal retinal morphology	80169	CTC1	OMIM:612199
HP:0000479	Abnormal retinal morphology	26277	TINF2	OMIM:268130
HP:0000479	Abnormal retinal morphology	26277	TINF2	OMIM:613990
HP:0000479	Abnormal retinal morphology	220202	ATOH7	ORPHA:91495
HP:0000479	Abnormal retinal morphology	1593	CYP27A1	ORPHA:909
HP:0000479	Abnormal retinal morphology	26278	SACS	ORPHA:98
HP:0000479	Abnormal retinal morphology	26278	SACS	OMIM:270550
HP:0000479	Abnormal retinal morphology	5159	PDGFRB	OMIM:601812
HP:0000479	Abnormal retinal morphology	5456	POU3F4	ORPHA:1435
HP:0000479	Abnormal retinal morphology	7003	TEAD1	OMIM:108985
HP:0000479	Abnormal retinal morphology	1495	CTNNA1	OMIM:608970
HP:0000479	Abnormal retinal morphology	2301	FOXE3	ORPHA:83461
HP:0000479	Abnormal retinal morphology	5147	PDE6D	OMIM:615665
HP:0000479	Abnormal retinal morphology	2161	F12	ORPHA:330
HP:0000479	Abnormal retinal morphology	55214	P3H2	OMIM:614292
HP:0000479	Abnormal retinal morphology	146167	SLC38A8	OMIM:609218
HP:0000479	Abnormal retinal morphology	25974	MMACHC	ORPHA:79282
HP:0000479	Abnormal retinal morphology	22947	DUX4L1	ORPHA:269
HP:0000479	Abnormal retinal morphology	1789	DNMT3B	ORPHA:269
HP:0000479	Abnormal retinal morphology	23347	SMCHD1	ORPHA:269
HP:0000479	Abnormal retinal morphology	100288687	DUX4	ORPHA:269
HP:0000479	Abnormal retinal morphology	1188	CLCNKB	OMIM:607364
HP:0000479	Abnormal retinal morphology	2776	GNAQ	ORPHA:3205
HP:0000479	Abnormal retinal morphology	283652	SLC24A5	ORPHA:370097
HP:0000479	Abnormal retinal morphology	2296	FOXC1	ORPHA:250923
HP:0000479	Abnormal retinal morphology	54765	TRIM44	ORPHA:250923
HP:0000479	Abnormal retinal morphology	1743	DLST	ORPHA:29072
HP:0000479	Abnormal retinal morphology	5979	RET	ORPHA:29072
HP:0000479	Abnormal retinal morphology	23095	KIF1B	ORPHA:29072
HP:0000479	Abnormal retinal morphology	2271	FH	ORPHA:29072
HP:0000479	Abnormal retinal morphology	8402	SLC25A11	ORPHA:29072
HP:0000479	Abnormal retinal morphology	54949	SDHAF2	ORPHA:29072
HP:0000479	Abnormal retinal morphology	55654	TMEM127	ORPHA:29072
HP:0000479	Abnormal retinal morphology	4763	NF1	ORPHA:29072
HP:0000479	Abnormal retinal morphology	6391	SDHC	ORPHA:29072
HP:0000479	Abnormal retinal morphology	4149	MAX	ORPHA:29072
HP:0000479	Abnormal retinal morphology	5925	RB1	ORPHA:1587
HP:0000479	Abnormal retinal morphology	5925	RB1	OMIM:180200
HP:0000479	Abnormal retinal morphology	5925	RB1	OMIM:259500
HP:0000479	Abnormal retinal morphology	7157	TP53	OMIM:259500
HP:0000479	Abnormal retinal morphology	11200	CHEK2	OMIM:259500
HP:0000479	Abnormal retinal morphology	5476	CTSA	ORPHA:351
HP:0000479	Abnormal retinal morphology	5476	CTSA	OMIM:256540
HP:0000479	Abnormal retinal morphology	3074	HEXB	ORPHA:309155
HP:0000479	Abnormal retinal morphology	3074	HEXB	OMIM:268800
HP:0000479	Abnormal retinal morphology	2720	GLB1	OMIM:230500
HP:0000479	Abnormal retinal morphology	2720	GLB1	OMIM:230650
HP:0000479	Abnormal retinal morphology	2720	GLB1	ORPHA:79255
HP:0000479	Abnormal retinal morphology	2581	GALC	ORPHA:206436
HP:0000479	Abnormal retinal morphology	5660	PSAP	ORPHA:206436
HP:0000479	Abnormal retinal morphology	79583	TMEM231	ORPHA:2752
HP:0000479	Abnormal retinal morphology	3073	HEXA	OMIM:272800
HP:0000479	Abnormal retinal morphology	1615	DARS1	OMIM:615281
HP:0000479	Abnormal retinal morphology	2760	GM2A	ORPHA:309246
HP:0000479	Abnormal retinal morphology	10730	YME1L1	OMIM:617302
HP:0000479	Abnormal retinal morphology	256471	MFSD8	OMIM:616170
HP:0000479	Abnormal retinal morphology	54499	TMCO1	OMIM:213980
HP:0000479	Abnormal retinal morphology	54675	CRLS1	OMIM:620167
HP:0000479	Abnormal retinal morphology	64127	NOD2	OMIM:186580
HP:0000479	Abnormal retinal morphology	64131	XYLT1	OMIM:264800
HP:0000479	Abnormal retinal morphology	64132	XYLT2	OMIM:264800
HP:0000479	Abnormal retinal morphology	7123	CLEC3B	OMIM:619977
HP:0000479	Abnormal retinal morphology	2201	FBN2	OMIM:616118
HP:0000479	Abnormal retinal morphology	2192	FBLN1	ORPHA:404451
HP:0000479	Abnormal retinal morphology	103	ADAR	ORPHA:41
HP:0000479	Abnormal retinal morphology	5076	PAX2	OMIM:120330
HP:0000479	Abnormal retinal morphology	83715	ESPN	OMIM:618632
HP:0000479	Abnormal retinal morphology	10516	FBLN5	OMIM:608895
HP:0000479	Abnormal retinal morphology	11235	PDCD10	ORPHA:221061
HP:0000479	Abnormal retinal morphology	83605	CCM2	ORPHA:221061
HP:0000479	Abnormal retinal morphology	889	KRIT1	ORPHA:221061
HP:0000479	Abnormal retinal morphology	1280	COL2A1	OMIM:108300
HP:0000479	Abnormal retinal morphology	4693	NDP	OMIM:305390
HP:0000479	Abnormal retinal morphology	3769	KCNJ13	OMIM:193230
HP:0000479	Abnormal retinal morphology	5322	PLA2G5	OMIM:228980
HP:0000479	Abnormal retinal morphology	4942	OAT	OMIM:258870
HP:0000479	Abnormal retinal morphology	2483	FRG1	OMIM:158900
HP:0000479	Abnormal retinal morphology	3123	HLA-DRB1	OMIM:181000
HP:0000479	Abnormal retinal morphology	8517	IKBKG	OMIM:301081
HP:0000479	Abnormal retinal morphology	4016	LOXL1	OMIM:177650
HP:0000479	Abnormal retinal morphology	462	SERPINC1	ORPHA:82
HP:0000479	Abnormal retinal morphology	23474	ETHE1	ORPHA:51188
HP:0000479	Abnormal retinal morphology	1282	COL4A1	ORPHA:73229
HP:0000479	Abnormal retinal morphology	9993	DGCR2	OMIM:192430
HP:0000479	Abnormal retinal morphology	8220	ESS2	OMIM:192430
HP:0000479	Abnormal retinal morphology	8214	DGCR6	OMIM:192430
HP:0000479	Abnormal retinal morphology	54487	DGCR8	OMIM:192430
HP:0000479	Abnormal retinal morphology	6899	TBX1	OMIM:192430
HP:0000479	Abnormal retinal morphology	1063	CENPF	OMIM:243605
HP:0000479	Abnormal retinal morphology	3913	LAMB2	OMIM:609049
HP:0000479	Abnormal retinal morphology	4720	NDUFS2	ORPHA:104
HP:0000479	Abnormal retinal morphology	4512	MT-CO1	ORPHA:104
HP:0000479	Abnormal retinal morphology	4514	MT-CO3	ORPHA:104
HP:0000479	Abnormal retinal morphology	4519	MT-CYB	ORPHA:104
HP:0000479	Abnormal retinal morphology	4539	MT-ND4L	ORPHA:104
HP:0000479	Abnormal retinal morphology	7490	WT1	OMIM:106210
HP:0000479	Abnormal retinal morphology	4976	OPA1	ORPHA:1215
HP:0000479	Abnormal retinal morphology	84277	DNAJC30	OMIM:619382
HP:0000479	Abnormal retinal morphology	157657	CFAP418	OMIM:614500
HP:0000479	Abnormal retinal morphology	10625	IVNS1ABP	OMIM:618969
HP:0000479	Abnormal retinal morphology	3932	LCK	OMIM:615758
HP:0000479	Abnormal retinal morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000479	Abnormal retinal morphology	523	ATP6V1A	ORPHA:357074
HP:0000479	Abnormal retinal morphology	529	ATP6V1E1	ORPHA:357074
HP:0000479	Abnormal retinal morphology	1545	CYP1B1	ORPHA:98977
HP:0000479	Abnormal retinal morphology	4653	MYOC	ORPHA:98977
HP:0000479	Abnormal retinal morphology	3490	IGFBP7	OMIM:614224
HP:0000479	Abnormal retinal morphology	9699	RIMS2	OMIM:618970
HP:0000479	Abnormal retinal morphology	94	ACVRL1	OMIM:600376
HP:0000479	Abnormal retinal morphology	2673	GFPT1	OMIM:610542
HP:0000479	Abnormal retinal morphology	1181	CLCN2	OMIM:615651
HP:0000479	Abnormal retinal morphology	71	ACTG1	ORPHA:2995
HP:0000479	Abnormal retinal morphology	60	ACTB	ORPHA:2995
HP:0000479	Abnormal retinal morphology	23503	ZFYVE26	ORPHA:100996
HP:0000479	Abnormal retinal morphology	4758	NEU1	ORPHA:93400
HP:0000479	Abnormal retinal morphology	189	AGXT	OMIM:259900
HP:0000479	Abnormal retinal morphology	2615	LRRC32	OMIM:619074
HP:0000479	Abnormal retinal morphology	726	CAPN5	OMIM:193235
HP:0000479	Abnormal retinal morphology	5961	PRPH2	ORPHA:75377
HP:0000479	Abnormal retinal morphology	3000	GUCY2D	ORPHA:75377
HP:0000479	Abnormal retinal morphology	2978	GUCA1A	ORPHA:75377
HP:0000479	Abnormal retinal morphology	79848	CSPP1	ORPHA:397715
HP:0000479	Abnormal retinal morphology	9786	KIAA0586	ORPHA:397715
HP:0000479	Abnormal retinal morphology	11277	TREX1	ORPHA:247691
HP:0000479	Abnormal retinal morphology	348	APOE	OMIM:603075
HP:0000479	Abnormal retinal morphology	83872	HMCN1	OMIM:603075
HP:0000479	Abnormal retinal morphology	3078	CFHR1	OMIM:603075
HP:0000479	Abnormal retinal morphology	10878	CFHR3	OMIM:603075
HP:0000479	Abnormal retinal morphology	10058	ABCB6	OMIM:614497
HP:0000479	Abnormal retinal morphology	51134	CEP83	OMIM:615862
HP:0000479	Abnormal retinal morphology	26005	C2CD3	OMIM:615948
HP:0000479	Abnormal retinal morphology	6017	RLBP1	ORPHA:85128
HP:0000479	Abnormal retinal morphology	6492	SIM1	ORPHA:398079
HP:0000479	Abnormal retinal morphology	54551	MAGEL2	ORPHA:398069
HP:0000479	Abnormal retinal morphology	3458	IFNG	ORPHA:805
HP:0000479	Abnormal retinal morphology	7248	TSC1	ORPHA:805
HP:0000479	Abnormal retinal morphology	7249	TSC2	ORPHA:805
HP:0000479	Abnormal retinal morphology	1638	DCT	OMIM:619165
HP:0000479	Abnormal retinal morphology	10166	SLC25A15	ORPHA:415
HP:0000479	Abnormal retinal morphology	125988	MICOS13	OMIM:618329
HP:0000479	Abnormal retinal morphology	7428	VHL	ORPHA:892
HP:0000479	Abnormal retinal morphology	595	CCND1	ORPHA:892
HP:0000479	Abnormal retinal morphology	3105	HLA-A	ORPHA:179
HP:0000479	Abnormal retinal morphology	1499	CTNNB1	ORPHA:891
HP:0000479	Abnormal retinal morphology	23554	TSPAN12	ORPHA:891
HP:0000479	Abnormal retinal morphology	4041	LRP5	ORPHA:891
HP:0000479	Abnormal retinal morphology	79797	ZNF408	ORPHA:891
HP:0000479	Abnormal retinal morphology	8322	FZD4	ORPHA:891
HP:0000479	Abnormal retinal morphology	114902	C1QTNF5	ORPHA:67042
HP:0000479	Abnormal retinal morphology	138050	HGSNAT	OMIM:616544
HP:0000479	Abnormal retinal morphology	114548	NLRP3	OMIM:148200
HP:0000479	Abnormal retinal morphology	324	APC	ORPHA:99818
HP:0000479	Abnormal retinal morphology	4771	NF2	ORPHA:637
HP:0000479	Abnormal retinal morphology	4771	NF2	OMIM:101000
HP:0000479	Abnormal retinal morphology	51095	TRNT1	OMIM:616959
HP:0000479	Abnormal retinal morphology	6452	SH3BP2	OMIM:118400
HP:0000479	Abnormal retinal morphology	170692	ADAMTS18	OMIM:615458
HP:0000479	Abnormal retinal morphology	1804	DPP6	OMIM:616311
HP:0000479	Abnormal retinal morphology	6935	ZEB1	ORPHA:98973
HP:0000479	Abnormal retinal morphology	30813	VSX1	ORPHA:98973
HP:0000479	Abnormal retinal morphology	58495	OVOL2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	79977	GRHL2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	1296	COL8A2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	55901	THSD1	OMIM:620244
HP:0007754	Macular dystrophy	2202	EFEMP1	ORPHA:75376
HP:0007754	Macular dystrophy	3075	CFH	ORPHA:75376
HP:0007754	Macular dystrophy	3426	CFI	ORPHA:75376
HP:0007754	Macular dystrophy	6785	ELOVL4	OMIM:600110
HP:0007754	Macular dystrophy	4166	CHST6	OMIM:217800
HP:0007754	Macular dystrophy	3617	IMPG1	OMIM:153870
HP:0007754	Macular dystrophy	3617	IMPG1	OMIM:616151
HP:0007754	Macular dystrophy	1001	CDH3	OMIM:225280
HP:0007754	Macular dystrophy	1001	CDH3	OMIM:601553
HP:0007754	Macular dystrophy	1001	CDH3	ORPHA:1897
HP:0007754	Macular dystrophy	8842	PROM1	OMIM:608051
HP:0007754	Macular dystrophy	5189	PEX1	OMIM:234580
HP:0007754	Macular dystrophy	93426	SYCE1	OMIM:616947
HP:0007754	Macular dystrophy	4567	MT-TL1	ORPHA:225
HP:0007754	Macular dystrophy	4556	MT-TE	ORPHA:225
HP:0007754	Macular dystrophy	4566	MT-TK	ORPHA:225
HP:0007754	Macular dystrophy	4644	MYO5A	ORPHA:33445
HP:0007754	Macular dystrophy	256471	MFSD8	OMIM:616170
HP:0007754	Macular dystrophy	50939	IMPG2	OMIM:616152
HP:0007754	Macular dystrophy	7078	TIMP3	OMIM:136900
HP:0007754	Macular dystrophy	7078	TIMP3	ORPHA:59181
HP:0007754	Macular dystrophy	5961	PRPH2	OMIM:169150
HP:0007754	Macular dystrophy	5961	PRPH2	OMIM:608161
HP:0007754	Macular dystrophy	7439	BEST1	OMIM:153700
HP:0007754	Macular dystrophy	92002	CCNQ	ORPHA:140952
HP:0007754	Macular dystrophy	94137	RP1L1	OMIM:613587
HP:0007754	Macular dystrophy	129880	BBS5	OMIM:615983
HP:0007979	Gaze-evoked horizontal nystagmus	3708	ITPR1	OMIM:606658
HP:0007979	Gaze-evoked horizontal nystagmus	5934	RBL2	OMIM:619690
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	OMIM:183086
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	ORPHA:98758
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	2643	GCH1	OMIM:128230
HP:0007979	Gaze-evoked horizontal nystagmus	26278	SACS	ORPHA:98
HP:0007979	Gaze-evoked horizontal nystagmus	6658	SOX3	ORPHA:67045
HP:0007979	Gaze-evoked horizontal nystagmus	146227	BEAN1	OMIM:117210
HP:0007979	Gaze-evoked horizontal nystagmus	255928	SYT14	ORPHA:284271
HP:0007979	Gaze-evoked horizontal nystagmus	255928	SYT14	OMIM:614229
HP:0007979	Gaze-evoked horizontal nystagmus	8913	CACNA1G	ORPHA:458803
HP:0007979	Gaze-evoked horizontal nystagmus	131669	UROC1	ORPHA:210128
HP:0007979	Gaze-evoked horizontal nystagmus	5081	PAX7	OMIM:618578
HP:0007979	Gaze-evoked horizontal nystagmus	54974	THG1L	OMIM:618800
HP:0007979	Gaze-evoked horizontal nystagmus	2911	GRM1	OMIM:614831
HP:0007979	Gaze-evoked horizontal nystagmus	2911	GRM1	ORPHA:324262
HP:0007979	Gaze-evoked horizontal nystagmus	3752	KCND3	OMIM:607346
HP:0007979	Gaze-evoked horizontal nystagmus	112476	PRRT2	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	6323	SCN1A	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	477	ATP1A2	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	2259	FGF14	OMIM:620174
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	51	ACOX1	OMIM:264470
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	10195	ALG3	OMIM:601110
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	7439	BEST1	OMIM:611809
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	9227	LRAT	OMIM:613341
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	5538	PPT1	OMIM:256730
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3000	GUCY2D	OMIM:204000
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3420	IDH3B	OMIM:612572
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3423	IDS	ORPHA:217085
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3423	IDS	ORPHA:217093
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	285440	CYP4V2	ORPHA:41751
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	85015	USP45	OMIM:618513
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	55624	POMGNT1	OMIM:253280
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	6010	RHO	OMIM:610445
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	6295	SAG	OMIM:613758
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	5995	RGR	OMIM:613769
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	9215	LARGE1	OMIM:608840
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	57192	MCOLN1	OMIM:252650
HP:0010693	Pulverulent cataract	4094	MAF	OMIM:610202
HP:0010693	Pulverulent cataract	3982	LIM2	OMIM:615277
HP:0010693	Pulverulent cataract	3299	HSF4	OMIM:116800
HP:0010693	Pulverulent cataract	2512	FTL	OMIM:600886
HP:0010693	Pulverulent cataract	7439	BEST1	OMIM:193220
HP:0010693	Pulverulent cataract	1414	CRYBB1	OMIM:611544
HP:0010693	Pulverulent cataract	2703	GJA8	OMIM:116200
HP:0010693	Pulverulent cataract	7431	VIM	OMIM:116300
HP:0010693	Pulverulent cataract	2702	GJA5	OMIM:612474
HP:0010693	Pulverulent cataract	1420	CRYGC	OMIM:604307
HP:0010693	Pulverulent cataract	1415	CRYBB2	OMIM:601547
HP:0010692	2-5 finger syndactyly	50814	NSDHL	OMIM:308050
HP:0010692	2-5 finger syndactyly	25914	RTTN	ORPHA:468631
HP:0010691	Mirror image foot polydactyly	5307	PITX1	OMIM:119800
HP:0007641	Dyschromatopsia	282809	POC1B	OMIM:615973
HP:0007641	Dyschromatopsia	10002	NR2E3	OMIM:611131
HP:0007641	Dyschromatopsia	10059	DNM1L	OMIM:610708
HP:0007641	Dyschromatopsia	611	OPN1SW	OMIM:190900
HP:0007641	Dyschromatopsia	611	OPN1SW	ORPHA:88629
HP:0007641	Dyschromatopsia	5950	RBP4	OMIM:615147
HP:0007641	Dyschromatopsia	4976	OPA1	OMIM:125250
HP:0007641	Dyschromatopsia	4976	OPA1	OMIM:165500
HP:0007641	Dyschromatopsia	114902	C1QTNF5	ORPHA:67042
HP:0007641	Dyschromatopsia	3000	GUCY2D	OMIM:618555
HP:0007641	Dyschromatopsia	80207	OPA3	ORPHA:67036
HP:0007641	Dyschromatopsia	256471	MFSD8	OMIM:616170
HP:0007641	Dyschromatopsia	50	ACO2	OMIM:616289
HP:0007641	Dyschromatopsia	2259	FGF14	ORPHA:98764
HP:0007641	Dyschromatopsia	6011	GRK1	ORPHA:75382
HP:0007641	Dyschromatopsia	6295	SAG	ORPHA:75382
HP:0007641	Dyschromatopsia	5146	PDE6C	OMIM:613093
HP:0007641	Dyschromatopsia	54714	CNGB3	OMIM:262300
HP:0007641	Dyschromatopsia	91574	MTRFR	ORPHA:254930
HP:0007641	Dyschromatopsia	7084	TK2	ORPHA:254886
HP:0007641	Dyschromatopsia	5428	POLG	ORPHA:254886
HP:0007641	Dyschromatopsia	5428	POLG	OMIM:258450
HP:0007641	Dyschromatopsia	3617	IMPG1	OMIM:153870
HP:0007641	Dyschromatopsia	22880	MORC2	ORPHA:466768
HP:0007641	Dyschromatopsia	8842	PROM1	OMIM:608051
HP:0007641	Dyschromatopsia	84131	CEP78	OMIM:617236
HP:0007641	Dyschromatopsia	5149	PDE6H	OMIM:610024
HP:0007641	Dyschromatopsia	7439	BEST1	OMIM:193220
HP:0007641	Dyschromatopsia	10939	AFG3L2	OMIM:618977
HP:0007641	Dyschromatopsia	84233	TMEM126A	OMIM:612989
HP:0007641	Dyschromatopsia	5961	PRPH2	ORPHA:75377
HP:0007641	Dyschromatopsia	2978	GUCA1A	ORPHA:75377
HP:0007641	Dyschromatopsia	2652	OPN1MW	OMIM:303800
HP:0007641	Dyschromatopsia	5956	OPN1LW	OMIM:303900
HP:0007642	Congenital stationary night blindness	4646	MYO6	OMIM:607821
HP:0007642	Congenital stationary night blindness	440435	GPR179	OMIM:614565
HP:0007642	Congenital stationary night blindness	345193	LRIT3	OMIM:615058
HP:0007642	Congenital stationary night blindness	6011	GRK1	OMIM:613411
HP:0007642	Congenital stationary night blindness	6011	GRK1	ORPHA:75382
HP:0007642	Congenital stationary night blindness	2779	GNAT1	OMIM:616389
HP:0007642	Congenital stationary night blindness	2779	GNAT1	OMIM:610444
HP:0007642	Congenital stationary night blindness	9187	SLC24A1	OMIM:613830
HP:0007642	Congenital stationary night blindness	4308	TRPM1	OMIM:613216
HP:0007642	Congenital stationary night blindness	60506	NYX	OMIM:310500
HP:0007642	Congenital stationary night blindness	2263	FGFR2	ORPHA:313855
HP:0007642	Congenital stationary night blindness	57010	CABP4	OMIM:610427
HP:0007642	Congenital stationary night blindness	778	CACNA1F	OMIM:300071
HP:0007642	Congenital stationary night blindness	5158	PDE6B	OMIM:163500
HP:0007642	Congenital stationary night blindness	6295	SAG	ORPHA:75382
HP:0007642	Congenital stationary night blindness	6295	SAG	OMIM:258100
HP:0007642	Congenital stationary night blindness	2916	GRM6	OMIM:257270
HP:0007642	Congenital stationary night blindness	83696	TRAPPC9	ORPHA:352530
HP:0007642	Congenital stationary night blindness	93589	CACNA2D4	ORPHA:215
HP:0007642	Congenital stationary night blindness	2784	GNB3	ORPHA:215
HP:0007642	Congenital stationary night blindness	5959	RDH5	OMIM:136880
HP:0007642	Congenital stationary night blindness	6010	RHO	OMIM:136880
HP:0007642	Congenital stationary night blindness	5961	PRPH2	OMIM:136880
HP:0007642	Congenital stationary night blindness	6017	RLBP1	OMIM:136880
HP:0007643	Peripheral tractional retinal detachment	1462	VCAN	OMIM:143200
HP:0007737	Bone spicule pigmentation of the retina	7399	USH2A	OMIM:613809
HP:0007737	Bone spicule pigmentation of the retina	7287	TULP1	OMIM:600132
HP:0007737	Bone spicule pigmentation of the retina	7401	CLRN1	OMIM:614180
HP:0007737	Bone spicule pigmentation of the retina	26121	PRPF31	OMIM:600138
HP:0007737	Bone spicule pigmentation of the retina	10594	PRPF8	OMIM:600059
HP:0007737	Bone spicule pigmentation of the retina	25794	FSCN2	OMIM:607921
HP:0007737	Bone spicule pigmentation of the retina	1121	CHM	OMIM:303100
HP:0007737	Bone spicule pigmentation of the retina	4117	MAK	OMIM:614181
HP:0007737	Bone spicule pigmentation of the retina	5949	RBP3	OMIM:615233
HP:0007737	Bone spicule pigmentation of the retina	9785	DHX38	OMIM:618220
HP:0007737	Bone spicule pigmentation of the retina	54903	MKS1	OMIM:615990
HP:0007737	Bone spicule pigmentation of the retina	22901	ARSG	OMIM:618144
HP:0007737	Bone spicule pigmentation of the retina	23418	CRB1	OMIM:172870
HP:0007737	Bone spicule pigmentation of the retina	23418	CRB1	OMIM:600105
HP:0007737	Bone spicule pigmentation of the retina	157657	CFAP418	OMIM:614500
HP:0007737	Bone spicule pigmentation of the retina	94137	RP1L1	OMIM:618826
HP:0007737	Bone spicule pigmentation of the retina	54585	LZTFL1	OMIM:615994
HP:0007737	Bone spicule pigmentation of the retina	6010	RHO	OMIM:613731
HP:0007737	Bone spicule pigmentation of the retina	6010	RHO	OMIM:610445
HP:0007737	Bone spicule pigmentation of the retina	6295	SAG	OMIM:620228
HP:0007737	Bone spicule pigmentation of the retina	5145	PDE6A	OMIM:613810
HP:0007737	Bone spicule pigmentation of the retina	84839	RAX2	OMIM:620102
HP:0007737	Bone spicule pigmentation of the retina	130557	ZNF513	OMIM:613617
HP:0007737	Bone spicule pigmentation of the retina	49855	SCAPER	OMIM:618195
HP:0007737	Bone spicule pigmentation of the retina	6101	RP1	OMIM:180100
HP:0007737	Bone spicule pigmentation of the retina	3000	GUCY2D	OMIM:601777
HP:0007737	Bone spicule pigmentation of the retina	2916	GRM6	OMIM:257270
HP:0007737	Bone spicule pigmentation of the retina	9227	LRAT	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	55812	SPATA7	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	6121	RPE65	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	6121	RPE65	OMIM:618697
HP:0007737	Bone spicule pigmentation of the retina	167691	LCA5	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	9742	IFT140	OMIM:617781
HP:0007737	Bone spicule pigmentation of the retina	6017	RLBP1	ORPHA:85128
HP:0007737	Bone spicule pigmentation of the retina	6017	RLBP1	OMIM:607476
HP:0007737	Bone spicule pigmentation of the retina	3098	HK1	OMIM:617460
HP:0007737	Bone spicule pigmentation of the retina	50939	IMPG2	OMIM:613581
HP:0007737	Bone spicule pigmentation of the retina	8842	PROM1	OMIM:612095
HP:0007737	Bone spicule pigmentation of the retina	83552	MFRP	OMIM:611040
HP:0007737	Bone spicule pigmentation of the retina	5148	PDE6G	OMIM:613582
HP:0007737	Bone spicule pigmentation of the retina	60509	AGBL5	OMIM:617023
HP:0007737	Bone spicule pigmentation of the retina	755	CFAP410	OMIM:617547
HP:0007737	Bone spicule pigmentation of the retina	123016	TTC8	OMIM:613464
HP:0007737	Bone spicule pigmentation of the retina	24148	PRPF6	OMIM:613983
HP:0007737	Bone spicule pigmentation of the retina	92840	REEP6	OMIM:617304
HP:0007737	Bone spicule pigmentation of the retina	3419	IDH3A	OMIM:619007
HP:0007737	Bone spicule pigmentation of the retina	57709	SLC7A14	OMIM:615725
HP:0007737	Bone spicule pigmentation of the retina	768206	PRCD	OMIM:610599
HP:0007737	Bone spicule pigmentation of the retina	388939	PCARE	OMIM:613428
HP:0007737	Bone spicule pigmentation of the retina	84140	FAM161A	OMIM:606068
HP:0007737	Bone spicule pigmentation of the retina	23020	SNRNP200	OMIM:610359
HP:0007737	Bone spicule pigmentation of the retina	346007	EYS	OMIM:602772
HP:0007737	Bone spicule pigmentation of the retina	28982	FLVCR1	ORPHA:88628
HP:0007737	Bone spicule pigmentation of the retina	28982	FLVCR1	OMIM:609033
HP:0007737	Bone spicule pigmentation of the retina	50484	RRM2B	OMIM:268315
HP:0007737	Bone spicule pigmentation of the retina	112752	IFT43	OMIM:617871
HP:0007737	Bone spicule pigmentation of the retina	64218	SEMA4A	OMIM:610283
HP:0007737	Bone spicule pigmentation of the retina	79797	ZNF408	OMIM:616469
HP:0007737	Bone spicule pigmentation of the retina	282809	POC1B	OMIM:615973
HP:0007737	Bone spicule pigmentation of the retina	4901	NRL	OMIM:613750
HP:0007737	Bone spicule pigmentation of the retina	138050	HGSNAT	OMIM:616544
HP:0007737	Bone spicule pigmentation of the retina	1259	CNGA1	OMIM:613756
HP:0007737	Bone spicule pigmentation of the retina	51109	RDH11	OMIM:616108
HP:0007737	Bone spicule pigmentation of the retina	84100	ARL6	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	79140	CCDC28B	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	582	BBS1	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	26504	CNNM4	OMIM:217080
HP:0007737	Bone spicule pigmentation of the retina	23761	PISD	OMIM:618889
HP:0007737	Bone spicule pigmentation of the retina	6100	RP9	OMIM:180104
HP:0007737	Bone spicule pigmentation of the retina	64802	NMNAT1	OMIM:608553
HP:0007737	Bone spicule pigmentation of the retina	1406	CRX	OMIM:120970
HP:0007737	Bone spicule pigmentation of the retina	3614	IMPDH1	OMIM:180105
HP:0007737	Bone spicule pigmentation of the retina	157680	VPS13B	OMIM:216550
HP:0007737	Bone spicule pigmentation of the retina	403	ARL3	OMIM:618173
HP:0007737	Bone spicule pigmentation of the retina	23155	CLCC1	OMIM:609913
HP:0007737	Bone spicule pigmentation of the retina	6103	RPGR	OMIM:300029
HP:0007737	Bone spicule pigmentation of the retina	24	ABCA4	OMIM:601718
HP:0007737	Bone spicule pigmentation of the retina	55624	POMGNT1	OMIM:617123
HP:0007737	Bone spicule pigmentation of the retina	27241	BBS9	OMIM:615986
HP:0007737	Bone spicule pigmentation of the retina	1258	CNGB1	OMIM:613767
HP:0007737	Bone spicule pigmentation of the retina	57670	KIAA1549	OMIM:618613
HP:0007737	Bone spicule pigmentation of the retina	5158	PDE6B	OMIM:613801
HP:0007737	Bone spicule pigmentation of the retina	145226	RDH12	OMIM:612712
HP:0000480	Retinal coloboma	22827	PUF60	ORPHA:508498
HP:0000480	Retinal coloboma	22827	PUF60	ORPHA:508488
HP:0000480	Retinal coloboma	4123	MAN2C1	OMIM:619775
HP:0000480	Retinal coloboma	9158	FIBP	ORPHA:500095
HP:0000480	Retinal coloboma	9158	FIBP	OMIM:617107
HP:0000480	Retinal coloboma	145173	B3GLCT	OMIM:261540
HP:0000480	Retinal coloboma	26005	C2CD3	ORPHA:434179
HP:0000480	Retinal coloboma	26005	C2CD3	OMIM:615948
HP:0000480	Retinal coloboma	9786	KIAA0586	OMIM:616546
HP:0000480	Retinal coloboma	220	ALDH1A3	OMIM:615113
HP:0000480	Retinal coloboma	9487	PIGL	OMIM:280000
HP:0000480	Retinal coloboma	9487	PIGL	ORPHA:3474
HP:0000480	Retinal coloboma	8573	CASK	OMIM:300749
HP:0000480	Retinal coloboma	80184	CEP290	OMIM:610188
HP:0000480	Retinal coloboma	2248	FGF3	ORPHA:2791
HP:0000480	Retinal coloboma	3166	HMX1	OMIM:612109
HP:0000480	Retinal coloboma	57167	SALL4	OMIM:607323
HP:0000480	Retinal coloboma	22930	RAB3GAP1	ORPHA:2510
HP:0000480	Retinal coloboma	25782	RAB3GAP2	ORPHA:2510
HP:0000480	Retinal coloboma	22931	RAB18	ORPHA:2510
HP:0000480	Retinal coloboma	128637	TBC1D20	ORPHA:2510
HP:0000480	Retinal coloboma	5076	PAX2	OMIM:120330
HP:0000480	Retinal coloboma	5076	PAX2	ORPHA:1475
HP:0000480	Retinal coloboma	9839	ZEB2	ORPHA:261537
HP:0000480	Retinal coloboma	9839	ZEB2	ORPHA:261552
HP:0000480	Retinal coloboma	7020	TFAP2A	OMIM:113620
HP:0000480	Retinal coloboma	26173	INTS1	OMIM:618571
HP:0000480	Retinal coloboma	54806	AHI1	ORPHA:220493
HP:0000480	Retinal coloboma	56623	INPP5E	ORPHA:220493
HP:0000480	Retinal coloboma	153241	CEP120	ORPHA:220493
HP:0000480	Retinal coloboma	54903	MKS1	ORPHA:220493
HP:0000480	Retinal coloboma	95681	CEP41	ORPHA:220493
HP:0000480	Retinal coloboma	55636	CHD7	OMIM:214800
HP:0000480	Retinal coloboma	6297	SALL2	OMIM:216820
HP:0000480	Retinal coloboma	64802	NMNAT1	OMIM:619260
HP:0000480	Retinal coloboma	64802	NMNAT1	OMIM:608553
HP:0000480	Retinal coloboma	5631	PRPS1	ORPHA:423479
HP:0000480	Retinal coloboma	9227	LRAT	ORPHA:364055
HP:0000480	Retinal coloboma	55812	SPATA7	ORPHA:364055
HP:0000480	Retinal coloboma	6121	RPE65	ORPHA:364055
HP:0000480	Retinal coloboma	167691	LCA5	ORPHA:364055
HP:0000480	Retinal coloboma	149461	CLDN19	ORPHA:2196
HP:0000480	Retinal coloboma	149461	CLDN19	OMIM:248190
HP:0000480	Retinal coloboma	55714	TENM3	OMIM:615145
HP:0000480	Retinal coloboma	9785	DHX38	OMIM:618220
HP:0000480	Retinal coloboma	25974	MMACHC	ORPHA:79282
HP:0000480	Retinal coloboma	23418	CRB1	OMIM:613835
HP:0000481	Abnormal cornea morphology	27019	DNAI1	OMIM:244400
HP:0000481	Abnormal cornea morphology	3909	LAMA3	ORPHA:79404
HP:0000481	Abnormal cornea morphology	3918	LAMC2	ORPHA:79404
HP:0000481	Abnormal cornea morphology	3914	LAMB3	ORPHA:79404
HP:0000481	Abnormal cornea morphology	1277	COL1A1	ORPHA:287
HP:0000481	Abnormal cornea morphology	1289	COL5A1	ORPHA:287
HP:0000481	Abnormal cornea morphology	1290	COL5A2	ORPHA:287
HP:0000481	Abnormal cornea morphology	1497	CTNS	ORPHA:411634
HP:0000481	Abnormal cornea morphology	1497	CTNS	ORPHA:411629
HP:0000481	Abnormal cornea morphology	1954	MEGF8	ORPHA:65759
HP:0000481	Abnormal cornea morphology	81857	MED25	OMIM:616449
HP:0000481	Abnormal cornea morphology	81857	MED25	ORPHA:464738
HP:0000481	Abnormal cornea morphology	10586	MAB21L2	OMIM:615877
HP:0000481	Abnormal cornea morphology	7473	WNT3	ORPHA:3301
HP:0000481	Abnormal cornea morphology	340419	RSPO2	ORPHA:3301
HP:0000481	Abnormal cornea morphology	10733	PLK4	OMIM:616171
HP:0000481	Abnormal cornea morphology	9150	CTDP1	OMIM:604168
HP:0000481	Abnormal cornea morphology	9150	CTDP1	ORPHA:48431
HP:0000481	Abnormal cornea morphology	8085	KMT2D	ORPHA:2322
HP:0000481	Abnormal cornea morphology	7403	KDM6A	ORPHA:2322
HP:0000481	Abnormal cornea morphology	3149	HMGB3	OMIM:300915
HP:0000481	Abnormal cornea morphology	387700	SLC16A12	OMIM:612018
HP:0000481	Abnormal cornea morphology	2314	FLII	ORPHA:819
HP:0000481	Abnormal cornea morphology	23096	IQSEC2	ORPHA:819
HP:0000481	Abnormal cornea morphology	10743	RAI1	ORPHA:819
HP:0000481	Abnormal cornea morphology	10522	DEAF1	ORPHA:819
HP:0000481	Abnormal cornea morphology	10982	MAPRE2	OMIM:616734
HP:0000481	Abnormal cornea morphology	10982	MAPRE2	ORPHA:2505
HP:0000481	Abnormal cornea morphology	55033	FKBP14	OMIM:614557
HP:0000481	Abnormal cornea morphology	55033	FKBP14	ORPHA:300179
HP:0000481	Abnormal cornea morphology	4286	MITF	OMIM:617306
HP:0000481	Abnormal cornea morphology	4810	NHS	OMIM:302350
HP:0000481	Abnormal cornea morphology	4810	NHS	ORPHA:627
HP:0000481	Abnormal cornea morphology	22930	RAB3GAP1	OMIM:600118
HP:0000481	Abnormal cornea morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000481	Abnormal cornea morphology	54880	BCOR	ORPHA:2712
HP:0000481	Abnormal cornea morphology	54880	BCOR	ORPHA:568
HP:0000481	Abnormal cornea morphology	54880	BCOR	OMIM:309800
HP:0000481	Abnormal cornea morphology	54880	BCOR	OMIM:300166
HP:0000481	Abnormal cornea morphology	5015	OTX2	OMIM:610125
HP:0000481	Abnormal cornea morphology	2248	FGF3	ORPHA:2791
HP:0000481	Abnormal cornea morphology	1063	CENPF	OMIM:243605
HP:0000481	Abnormal cornea morphology	646960	PRSS56	OMIM:613517
HP:0000481	Abnormal cornea morphology	8260	NAA10	ORPHA:568
HP:0000481	Abnormal cornea morphology	8260	NAA10	OMIM:309800
HP:0000481	Abnormal cornea morphology	84314	TMEM107	ORPHA:564
HP:0000481	Abnormal cornea morphology	26123	TCTN3	ORPHA:564
HP:0000481	Abnormal cornea morphology	79867	TCTN2	ORPHA:564
HP:0000481	Abnormal cornea morphology	80776	B9D2	ORPHA:564
HP:0000481	Abnormal cornea morphology	79600	TCTN1	ORPHA:564
HP:0000481	Abnormal cornea morphology	79848	CSPP1	ORPHA:564
HP:0000481	Abnormal cornea morphology	51259	TMEM216	ORPHA:564
HP:0000481	Abnormal cornea morphology	79583	TMEM231	ORPHA:564
HP:0000481	Abnormal cornea morphology	91147	TMEM67	ORPHA:564
HP:0000481	Abnormal cornea morphology	79770	TXNDC15	ORPHA:564
HP:0000481	Abnormal cornea morphology	27077	B9D1	ORPHA:564
HP:0000481	Abnormal cornea morphology	23322	RPGRIP1L	ORPHA:564
HP:0000481	Abnormal cornea morphology	54903	MKS1	ORPHA:564
HP:0000481	Abnormal cornea morphology	65062	TMEM237	ORPHA:564
HP:0000481	Abnormal cornea morphology	652	BMP4	OMIM:607932
HP:0000481	Abnormal cornea morphology	652	BMP4	ORPHA:139471
HP:0000481	Abnormal cornea morphology	55714	TENM3	OMIM:615145
HP:0000481	Abnormal cornea morphology	10682	EBP	ORPHA:35173
HP:0000481	Abnormal cornea morphology	128637	TBC1D20	OMIM:615663
HP:0000481	Abnormal cornea morphology	128637	TBC1D20	ORPHA:2510
HP:0000481	Abnormal cornea morphology	5950	RBP4	OMIM:615147
HP:0000481	Abnormal cornea morphology	7020	TFAP2A	ORPHA:1297
HP:0000481	Abnormal cornea morphology	57167	SALL4	ORPHA:959
HP:0000481	Abnormal cornea morphology	57167	SALL4	ORPHA:233
HP:0000481	Abnormal cornea morphology	2313	FLI1	ORPHA:2308
HP:0000481	Abnormal cornea morphology	79718	TBL1XR1	ORPHA:487825
HP:0000481	Abnormal cornea morphology	79718	TBL1XR1	OMIM:602342
HP:0000481	Abnormal cornea morphology	668	FOXL2	OMIM:110100
HP:0000481	Abnormal cornea morphology	1123	CHN1	ORPHA:233
HP:0000481	Abnormal cornea morphology	23476	BRD4	ORPHA:199
HP:0000481	Abnormal cornea morphology	9126	SMC3	ORPHA:199
HP:0000481	Abnormal cornea morphology	8243	SMC1A	ORPHA:199
HP:0000481	Abnormal cornea morphology	55869	HDAC8	ORPHA:199
HP:0000481	Abnormal cornea morphology	5885	RAD21	ORPHA:199
HP:0000481	Abnormal cornea morphology	10664	CTCF	ORPHA:363611
HP:0000481	Abnormal cornea morphology	25782	RAB3GAP2	OMIM:614225
HP:0000481	Abnormal cornea morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000481	Abnormal cornea morphology	22931	RAB18	OMIM:614222
HP:0000481	Abnormal cornea morphology	22931	RAB18	ORPHA:2510
HP:0000481	Abnormal cornea morphology	286	ANK1	ORPHA:251066
HP:0000481	Abnormal cornea morphology	402	ARL2	OMIM:619082
HP:0000481	Abnormal cornea morphology	203068	TUBB	OMIM:156610
HP:0000481	Abnormal cornea morphology	203068	TUBB	ORPHA:2505
HP:0000481	Abnormal cornea morphology	182	JAG1	OMIM:118450
HP:0000481	Abnormal cornea morphology	57479	PRR12	OMIM:619539
HP:0000481	Abnormal cornea morphology	92344	GORAB	ORPHA:2078
HP:0000481	Abnormal cornea morphology	5831	PYCR1	ORPHA:2078
HP:0000481	Abnormal cornea morphology	170692	ADAMTS18	OMIM:615458
HP:0000481	Abnormal cornea morphology	3339	HSPG2	OMIM:255800
HP:0000481	Abnormal cornea morphology	3339	HSPG2	ORPHA:800
HP:0000481	Abnormal cornea morphology	3166	HMX1	OMIM:612109
HP:0000481	Abnormal cornea morphology	71	ACTG1	ORPHA:2995
HP:0000481	Abnormal cornea morphology	60	ACTB	ORPHA:2995
HP:0000481	Abnormal cornea morphology	50945	TBX22	ORPHA:921
HP:0000481	Abnormal cornea morphology	6913	TBX15	OMIM:260660
HP:0000481	Abnormal cornea morphology	7528	YY1	ORPHA:506358
HP:0000481	Abnormal cornea morphology	778	CACNA1F	OMIM:300476
HP:0000481	Abnormal cornea morphology	778	CACNA1F	ORPHA:178333
HP:0000481	Abnormal cornea morphology	778	CACNA1F	OMIM:300600
HP:0000481	Abnormal cornea morphology	8036	SHOC2	OMIM:607721
HP:0000481	Abnormal cornea morphology	5076	PAX2	ORPHA:97362
HP:0000481	Abnormal cornea morphology	5087	PBX1	ORPHA:97362
HP:0000481	Abnormal cornea morphology	23394	ADNP	ORPHA:404448
HP:0000481	Abnormal cornea morphology	23394	ADNP	OMIM:615873
HP:0000481	Abnormal cornea morphology	4099	MAG	OMIM:616680
HP:0000481	Abnormal cornea morphology	4099	MAG	ORPHA:459056
HP:0000481	Abnormal cornea morphology	51256	TBC1D7	OMIM:248000
HP:0000481	Abnormal cornea morphology	9759	HDAC4	OMIM:619797
HP:0000481	Abnormal cornea morphology	30000	TNPO2	OMIM:619556
HP:0000481	Abnormal cornea morphology	9158	FIBP	ORPHA:500095
HP:0000481	Abnormal cornea morphology	23241	PACS2	OMIM:618067
HP:0000481	Abnormal cornea morphology	10765	KDM5B	OMIM:618109
HP:0000481	Abnormal cornea morphology	64116	SLC39A8	OMIM:616721
HP:0000481	Abnormal cornea morphology	64116	SLC39A8	ORPHA:468699
HP:0000481	Abnormal cornea morphology	7299	TYR	OMIM:203100
HP:0000481	Abnormal cornea morphology	406960	MIR184	OMIM:614303
HP:0000481	Abnormal cornea morphology	3008	H1-4	OMIM:617537
HP:0000481	Abnormal cornea morphology	7003	TEAD1	OMIM:108985
HP:0000481	Abnormal cornea morphology	118987	PDZD8	OMIM:620021
HP:0000481	Abnormal cornea morphology	1299	COL9A3	OMIM:620022
HP:0000481	Abnormal cornea morphology	1299	COL9A3	ORPHA:250984
HP:0000481	Abnormal cornea morphology	84570	COL25A1	ORPHA:91411
HP:0000481	Abnormal cornea morphology	79776	ZFHX4	ORPHA:91411
HP:0000481	Abnormal cornea morphology	23126	POGZ	ORPHA:468678
HP:0000481	Abnormal cornea morphology	23126	POGZ	OMIM:616364
HP:0000481	Abnormal cornea morphology	64324	NSD1	ORPHA:821
HP:0000481	Abnormal cornea morphology	29072	SETD2	ORPHA:821
HP:0000481	Abnormal cornea morphology	10297	APC2	ORPHA:821
HP:0000481	Abnormal cornea morphology	3981	LIG4	OMIM:606593
HP:0000481	Abnormal cornea morphology	5575	PRKAR1B	OMIM:619680
HP:0000481	Abnormal cornea morphology	146167	SLC38A8	OMIM:609218
HP:0000481	Abnormal cornea morphology	89910	UBE3B	OMIM:244450
HP:0000481	Abnormal cornea morphology	55209	SETD5	OMIM:615761
HP:0000481	Abnormal cornea morphology	55215	FANCI	OMIM:609053
HP:0000481	Abnormal cornea morphology	55215	FANCI	ORPHA:84
HP:0000481	Abnormal cornea morphology	4010	LMX1B	ORPHA:495818
HP:0000481	Abnormal cornea morphology	6812	STXBP1	ORPHA:495818
HP:0000481	Abnormal cornea morphology	10686	CLDN16	OMIM:248250
HP:0000481	Abnormal cornea morphology	169522	KCNV2	OMIM:610356
HP:0000481	Abnormal cornea morphology	5010	CLDN11	OMIM:619328
HP:0000481	Abnormal cornea morphology	473	RERE	ORPHA:494344
HP:0000481	Abnormal cornea morphology	55777	MBD5	OMIM:156200
HP:0000481	Abnormal cornea morphology	56915	EXOSC5	OMIM:619576
HP:0000481	Abnormal cornea morphology	2590	GALNT2	OMIM:618885
HP:0000481	Abnormal cornea morphology	57492	ARID1B	OMIM:135900
HP:0000481	Abnormal cornea morphology	55870	ASH1L	OMIM:617796
HP:0000481	Abnormal cornea morphology	2200	FBN1	OMIM:154700
HP:0000481	Abnormal cornea morphology	2200	FBN1	OMIM:608328
HP:0000481	Abnormal cornea morphology	54496	PRMT7	OMIM:617157
HP:0000481	Abnormal cornea morphology	92255	LMBRD2	OMIM:619694
HP:0000481	Abnormal cornea morphology	7275	TUB	OMIM:616188
HP:0000481	Abnormal cornea morphology	113189	CHST14	ORPHA:2953
HP:0000481	Abnormal cornea morphology	113189	CHST14	OMIM:601776
HP:0000481	Abnormal cornea morphology	29940	DSE	ORPHA:2953
HP:0000481	Abnormal cornea morphology	5119	CHMP1A	OMIM:614961
HP:0000481	Abnormal cornea morphology	816	CAMK2B	OMIM:617799
HP:0000481	Abnormal cornea morphology	1108	CHD4	OMIM:617159
HP:0000481	Abnormal cornea morphology	84100	ARL6	OMIM:209900
HP:0000481	Abnormal cornea morphology	79140	CCDC28B	OMIM:209900
HP:0000481	Abnormal cornea morphology	582	BBS1	OMIM:209900
HP:0000481	Abnormal cornea morphology	708	C1QBP	OMIM:617713
HP:0000481	Abnormal cornea morphology	672	BRCA1	ORPHA:84
HP:0000481	Abnormal cornea morphology	10459	MAD2L2	ORPHA:84
HP:0000481	Abnormal cornea morphology	7516	XRCC2	ORPHA:84
HP:0000481	Abnormal cornea morphology	29089	UBE2T	ORPHA:84
HP:0000481	Abnormal cornea morphology	675	BRCA2	ORPHA:84
HP:0000481	Abnormal cornea morphology	55120	FANCL	ORPHA:84
HP:0000481	Abnormal cornea morphology	2177	FANCD2	ORPHA:84
HP:0000481	Abnormal cornea morphology	2175	FANCA	ORPHA:84
HP:0000481	Abnormal cornea morphology	2187	FANCB	ORPHA:84
HP:0000481	Abnormal cornea morphology	2176	FANCC	ORPHA:84
HP:0000481	Abnormal cornea morphology	2178	FANCE	ORPHA:84
HP:0000481	Abnormal cornea morphology	2188	FANCF	ORPHA:84
HP:0000481	Abnormal cornea morphology	2189	FANCG	ORPHA:84
HP:0000481	Abnormal cornea morphology	5888	RAD51	ORPHA:84
HP:0000481	Abnormal cornea morphology	5889	RAD51C	ORPHA:84
HP:0000481	Abnormal cornea morphology	55159	RFWD3	ORPHA:84
HP:0000481	Abnormal cornea morphology	83990	BRIP1	ORPHA:84
HP:0000481	Abnormal cornea morphology	57697	FANCM	ORPHA:84
HP:0000481	Abnormal cornea morphology	79728	PALB2	ORPHA:84
HP:0000481	Abnormal cornea morphology	84464	SLX4	ORPHA:84
HP:0000481	Abnormal cornea morphology	9241	NOG	OMIM:186500
HP:0000481	Abnormal cornea morphology	222663	SCUBE3	OMIM:619184
HP:0000481	Abnormal cornea morphology	6045	RNF2	OMIM:619460
HP:0000481	Abnormal cornea morphology	9401	RECQL4	OMIM:218600
HP:0000481	Abnormal cornea morphology	9839	ZEB2	ORPHA:261552
HP:0000481	Abnormal cornea morphology	9839	ZEB2	ORPHA:261537
HP:0000481	Abnormal cornea morphology	372	ARCN1	OMIM:617164
HP:0000481	Abnormal cornea morphology	9757	KMT2B	OMIM:617284
HP:0000481	Abnormal cornea morphology	9757	KMT2B	OMIM:619934
HP:0000481	Abnormal cornea morphology	54681	P4HTM	OMIM:618493
HP:0000481	Abnormal cornea morphology	4761	NEUROD2	OMIM:618374
HP:0000481	Abnormal cornea morphology	26040	SETBP1	OMIM:616078
HP:0000481	Abnormal cornea morphology	57178	ZMIZ1	OMIM:618659
HP:0000481	Abnormal cornea morphology	23065	EMC1	OMIM:616875
HP:0000481	Abnormal cornea morphology	23065	EMC1	ORPHA:480898
HP:0000481	Abnormal cornea morphology	4591	TRIM37	OMIM:253250
HP:0000481	Abnormal cornea morphology	149461	CLDN19	OMIM:248190
HP:0000481	Abnormal cornea morphology	165	AEBP1	ORPHA:536532
HP:0000481	Abnormal cornea morphology	2743	GLRB	OMIM:614619
HP:0000481	Abnormal cornea morphology	26160	IFT172	OMIM:619471
HP:0000481	Abnormal cornea morphology	1798	DPAGT1	ORPHA:86309
HP:0000481	Abnormal cornea morphology	84265	POLR3GL	OMIM:619234
HP:0000481	Abnormal cornea morphology	253738	EBF3	OMIM:617330
HP:0000481	Abnormal cornea morphology	57498	KIDINS220	OMIM:617296
HP:0000481	Abnormal cornea morphology	29957	SLC25A24	ORPHA:2095
HP:0000481	Abnormal cornea morphology	57003	CCDC47	OMIM:618268
HP:0000481	Abnormal cornea morphology	134218	DNAJC21	OMIM:617052
HP:0000481	Abnormal cornea morphology	57545	CC2D2A	OMIM:612285
HP:0000481	Abnormal cornea morphology	51604	PIGT	ORPHA:369837
HP:0000481	Abnormal cornea morphology	4659	PPP1R12A	OMIM:618820
HP:0000481	Abnormal cornea morphology	8239	USP9X	ORPHA:480880
HP:0000481	Abnormal cornea morphology	8239	USP9X	OMIM:300968
HP:0000481	Abnormal cornea morphology	3098	HK1	OMIM:618547
HP:0000481	Abnormal cornea morphology	9091	PIGQ	OMIM:618548
HP:0000481	Abnormal cornea morphology	63895	PIEZO2	OMIM:108145
HP:0000481	Abnormal cornea morphology	283446	MYO1H	OMIM:619482
HP:0000481	Abnormal cornea morphology	8314	BAP1	OMIM:619762
HP:0000481	Abnormal cornea morphology	388552	BLOC1S3	OMIM:614077
HP:0000481	Abnormal cornea morphology	29123	ANKRD11	ORPHA:261250
HP:0000481	Abnormal cornea morphology	4784	NFIX	OMIM:614753
HP:0000481	Abnormal cornea morphology	1806	DPYD	ORPHA:1675
HP:0000481	Abnormal cornea morphology	1806	DPYD	ORPHA:293948
HP:0000481	Abnormal cornea morphology	2890	GRIA1	OMIM:619927
HP:0000481	Abnormal cornea morphology	23261	CAMTA1	OMIM:614756
HP:0000481	Abnormal cornea morphology	51341	ZBTB7A	OMIM:619769
HP:0000481	Abnormal cornea morphology	9338	TCEAL1	OMIM:301094
HP:0000481	Abnormal cornea morphology	7401	CLRN1	ORPHA:231183
HP:0000481	Abnormal cornea morphology	22901	ARSG	ORPHA:231183
HP:0000481	Abnormal cornea morphology	4575	MT-TS2	ORPHA:231183
HP:0000481	Abnormal cornea morphology	3035	HARS1	ORPHA:231183
HP:0000481	Abnormal cornea morphology	84131	CEP78	ORPHA:231183
HP:0000481	Abnormal cornea morphology	51322	WAC	ORPHA:284169
HP:0000481	Abnormal cornea morphology	51322	WAC	OMIM:616708
HP:0000481	Abnormal cornea morphology	80267	EDEM3	OMIM:619493
HP:0000481	Abnormal cornea morphology	81031	SLC2A10	OMIM:208050
HP:0000481	Abnormal cornea morphology	5528	PPP2R5D	ORPHA:457279
HP:0000481	Abnormal cornea morphology	387	RHOA	OMIM:618727
HP:0000481	Abnormal cornea morphology	7994	KAT6A	OMIM:616268
HP:0000481	Abnormal cornea morphology	25836	NIPBL	OMIM:122470
HP:0000481	Abnormal cornea morphology	1107	CHD3	OMIM:618205
HP:0000481	Abnormal cornea morphology	2316	FLNA	ORPHA:1826
HP:0000481	Abnormal cornea morphology	6885	MAP3K7	ORPHA:1826
HP:0000481	Abnormal cornea morphology	404672	GTF2H5	ORPHA:33364
HP:0000481	Abnormal cornea morphology	833	CARS1	ORPHA:33364
HP:0000481	Abnormal cornea morphology	7737	RNF113A	ORPHA:33364
HP:0000481	Abnormal cornea morphology	136647	MPLKIP	ORPHA:33364
HP:0000481	Abnormal cornea morphology	6897	TARS1	ORPHA:33364
HP:0000481	Abnormal cornea morphology	2961	GTF2E2	ORPHA:33364
HP:0000481	Abnormal cornea morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0000481	Abnormal cornea morphology	224	ALDH3A2	OMIM:270200
HP:0000481	Abnormal cornea morphology	8943	AP3D1	ORPHA:54
HP:0000481	Abnormal cornea morphology	55181	SMG8	OMIM:619268
HP:0000481	Abnormal cornea morphology	26173	INTS1	OMIM:618571
HP:0000481	Abnormal cornea morphology	9181	ARHGEF2	OMIM:617523
HP:0000481	Abnormal cornea morphology	1297	COL9A1	OMIM:614134
HP:0000481	Abnormal cornea morphology	1297	COL9A1	ORPHA:250984
HP:0000481	Abnormal cornea morphology	1298	COL9A2	ORPHA:250984
HP:0000481	Abnormal cornea morphology	84695	LOXL3	ORPHA:250984
HP:0000481	Abnormal cornea morphology	27241	BBS9	OMIM:615986
HP:0000481	Abnormal cornea morphology	55294	FBXW7	OMIM:620012
HP:0000481	Abnormal cornea morphology	57459	GATAD2B	ORPHA:363686
HP:0000481	Abnormal cornea morphology	4166	CHST6	ORPHA:98969
HP:0000481	Abnormal cornea morphology	79158	GNPTAB	OMIM:252600
HP:0000481	Abnormal cornea morphology	23102	TBC1D2B	ORPHA:397973
HP:0000481	Abnormal cornea morphology	64221	ROBO3	OMIM:607313
HP:0000481	Abnormal cornea morphology	4935	GPR143	OMIM:300814
HP:0000481	Abnormal cornea morphology	26277	TINF2	OMIM:268130
HP:0000481	Abnormal cornea morphology	7010	TEK	OMIM:617272
HP:0000481	Abnormal cornea morphology	26128	KIFBP	OMIM:609460
HP:0000481	Abnormal cornea morphology	2263	FGFR2	ORPHA:313855
HP:0000481	Abnormal cornea morphology	3778	KCNMA1	OMIM:618729
HP:0000481	Abnormal cornea morphology	1009	CDH11	OMIM:211380
HP:0000481	Abnormal cornea morphology	29925	GMPPB	ORPHA:370959
HP:0000481	Abnormal cornea morphology	10815	CPLX1	ORPHA:280
HP:0000481	Abnormal cornea morphology	54872	PIGG	ORPHA:280
HP:0000481	Abnormal cornea morphology	7469	NELFA	ORPHA:280
HP:0000481	Abnormal cornea morphology	1487	CTBP1	ORPHA:280
HP:0000481	Abnormal cornea morphology	3954	LETM1	ORPHA:280
HP:0000481	Abnormal cornea morphology	7468	NSD2	ORPHA:280
HP:0000481	Abnormal cornea morphology	5515	PPP2CA	OMIM:618354
HP:0000481	Abnormal cornea morphology	285590	SH3PXD2B	OMIM:249420
HP:0000481	Abnormal cornea morphology	2245	FGD1	ORPHA:915
HP:0000481	Abnormal cornea morphology	7454	WAS	ORPHA:906
HP:0000481	Abnormal cornea morphology	7456	WIPF1	ORPHA:906
HP:0000481	Abnormal cornea morphology	5429	POLH	OMIM:278750
HP:0000481	Abnormal cornea morphology	5429	POLH	ORPHA:90342
HP:0000481	Abnormal cornea morphology	55343	SLC35C1	ORPHA:99843
HP:0000481	Abnormal cornea morphology	3572	IL6ST	OMIM:618523
HP:0000481	Abnormal cornea morphology	9244	CRLF1	OMIM:272430
HP:0000481	Abnormal cornea morphology	1288	COL4A6	ORPHA:1018
HP:0000481	Abnormal cornea morphology	3850	KRT3	OMIM:618767
HP:0000481	Abnormal cornea morphology	5422	POLA1	OMIM:301220
HP:0000481	Abnormal cornea morphology	1294	COL7A1	OMIM:226600
HP:0000481	Abnormal cornea morphology	4312	MMP1	OMIM:226600
HP:0000481	Abnormal cornea morphology	54892	NCAPG2	OMIM:618460
HP:0000481	Abnormal cornea morphology	667	DST	OMIM:614653
HP:0000481	Abnormal cornea morphology	85446	ZFHX2	OMIM:147430
HP:0000481	Abnormal cornea morphology	1387	CREBBP	ORPHA:353277
HP:0000481	Abnormal cornea morphology	59335	PRDM12	OMIM:616488
HP:0000481	Abnormal cornea morphology	4358	MPV17	OMIM:256810
HP:0000481	Abnormal cornea morphology	2033	EP300	ORPHA:353284
HP:0000481	Abnormal cornea morphology	4990	SIX6	OMIM:212550
HP:0000481	Abnormal cornea morphology	1281	COL3A1	OMIM:130050
HP:0000481	Abnormal cornea morphology	1281	COL3A1	ORPHA:286
HP:0000481	Abnormal cornea morphology	3769	KCNJ13	ORPHA:65
HP:0000481	Abnormal cornea morphology	343035	RD3	ORPHA:65
HP:0000481	Abnormal cornea morphology	145226	RDH12	ORPHA:65
HP:0000481	Abnormal cornea morphology	145226	RDH12	ORPHA:791
HP:0000481	Abnormal cornea morphology	1406	CRX	ORPHA:65
HP:0000481	Abnormal cornea morphology	1406	CRX	ORPHA:791
HP:0000481	Abnormal cornea morphology	1406	CRX	OMIM:613829
HP:0000481	Abnormal cornea morphology	64802	NMNAT1	ORPHA:65
HP:0000481	Abnormal cornea morphology	64802	NMNAT1	OMIM:608553
HP:0000481	Abnormal cornea morphology	57096	RPGRIP1	ORPHA:65
HP:0000481	Abnormal cornea morphology	57096	RPGRIP1	OMIM:613826
HP:0000481	Abnormal cornea morphology	80184	CEP290	ORPHA:65
HP:0000481	Abnormal cornea morphology	10383	TUBB4B	ORPHA:65
HP:0000481	Abnormal cornea morphology	9742	IFT140	ORPHA:65
HP:0000481	Abnormal cornea morphology	9742	IFT140	ORPHA:791
HP:0000481	Abnormal cornea morphology	85015	USP45	ORPHA:65
HP:0000481	Abnormal cornea morphology	6121	RPE65	ORPHA:65
HP:0000481	Abnormal cornea morphology	6121	RPE65	ORPHA:791
HP:0000481	Abnormal cornea morphology	6121	RPE65	OMIM:204100
HP:0000481	Abnormal cornea morphology	23418	CRB1	ORPHA:65
HP:0000481	Abnormal cornea morphology	23418	CRB1	ORPHA:791
HP:0000481	Abnormal cornea morphology	23418	CRB1	OMIM:613835
HP:0000481	Abnormal cornea morphology	9657	IQCB1	ORPHA:65
HP:0000481	Abnormal cornea morphology	392255	GDF6	ORPHA:65
HP:0000481	Abnormal cornea morphology	23746	AIPL1	ORPHA:65
HP:0000481	Abnormal cornea morphology	23746	AIPL1	OMIM:604393
HP:0000481	Abnormal cornea morphology	3000	GUCY2D	ORPHA:65
HP:0000481	Abnormal cornea morphology	3000	GUCY2D	OMIM:204000
HP:0000481	Abnormal cornea morphology	9227	LRAT	ORPHA:65
HP:0000481	Abnormal cornea morphology	9227	LRAT	ORPHA:791
HP:0000481	Abnormal cornea morphology	55812	SPATA7	ORPHA:65
HP:0000481	Abnormal cornea morphology	55812	SPATA7	ORPHA:791
HP:0000481	Abnormal cornea morphology	7287	TULP1	ORPHA:65
HP:0000481	Abnormal cornea morphology	7287	TULP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	167691	LCA5	ORPHA:65
HP:0000481	Abnormal cornea morphology	3614	IMPDH1	ORPHA:65
HP:0000481	Abnormal cornea morphology	3614	IMPDH1	ORPHA:791
HP:0000481	Abnormal cornea morphology	7025	NR2F1	ORPHA:401777
HP:0000481	Abnormal cornea morphology	92840	REEP6	ORPHA:791
HP:0000481	Abnormal cornea morphology	6094	ROM1	ORPHA:791
HP:0000481	Abnormal cornea morphology	6017	RLBP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	24	ABCA4	ORPHA:791
HP:0000481	Abnormal cornea morphology	130557	ZNF513	ORPHA:791
HP:0000481	Abnormal cornea morphology	92211	CDHR1	ORPHA:791
HP:0000481	Abnormal cornea morphology	23568	ARL2BP	ORPHA:791
HP:0000481	Abnormal cornea morphology	54806	AHI1	ORPHA:791
HP:0000481	Abnormal cornea morphology	6101	RP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	3419	IDH3A	ORPHA:791
HP:0000481	Abnormal cornea morphology	4751	NEK2	ORPHA:791
HP:0000481	Abnormal cornea morphology	346007	EYS	ORPHA:791
HP:0000481	Abnormal cornea morphology	8100	IFT88	ORPHA:791
HP:0000481	Abnormal cornea morphology	23020	SNRNP200	ORPHA:791
HP:0000481	Abnormal cornea morphology	762	CA4	ORPHA:791
HP:0000481	Abnormal cornea morphology	138050	HGSNAT	ORPHA:791
HP:0000481	Abnormal cornea morphology	196	AHR	ORPHA:791
HP:0000481	Abnormal cornea morphology	123016	TTC8	ORPHA:791
HP:0000481	Abnormal cornea morphology	6103	RPGR	ORPHA:791
HP:0000481	Abnormal cornea morphology	5148	PDE6G	ORPHA:791
HP:0000481	Abnormal cornea morphology	26121	PRPF31	ORPHA:791
HP:0000481	Abnormal cornea morphology	583	BBS2	ORPHA:791
HP:0000481	Abnormal cornea morphology	4117	MAK	ORPHA:791
HP:0000481	Abnormal cornea morphology	25794	FSCN2	ORPHA:791
HP:0000481	Abnormal cornea morphology	375298	CERKL	ORPHA:791
HP:0000481	Abnormal cornea morphology	3420	IDH3B	ORPHA:791
HP:0000481	Abnormal cornea morphology	57670	KIAA1549	ORPHA:791
HP:0000481	Abnormal cornea morphology	24148	PRPF6	ORPHA:791
HP:0000481	Abnormal cornea morphology	10461	MERTK	ORPHA:791
HP:0000481	Abnormal cornea morphology	57709	SLC7A14	ORPHA:791
HP:0000481	Abnormal cornea morphology	768206	PRCD	ORPHA:791
HP:0000481	Abnormal cornea morphology	7399	USH2A	ORPHA:791
HP:0000481	Abnormal cornea morphology	23370	ARHGEF18	ORPHA:791
HP:0000481	Abnormal cornea morphology	5949	RBP3	ORPHA:791
HP:0000481	Abnormal cornea morphology	6010	RHO	ORPHA:791
HP:0000481	Abnormal cornea morphology	6100	RP9	ORPHA:791
HP:0000481	Abnormal cornea morphology	10002	NR2E3	ORPHA:791
HP:0000481	Abnormal cornea morphology	84140	FAM161A	ORPHA:791
HP:0000481	Abnormal cornea morphology	79797	ZNF408	ORPHA:791
HP:0000481	Abnormal cornea morphology	403	ARL3	ORPHA:791
HP:0000481	Abnormal cornea morphology	5145	PDE6A	ORPHA:791
HP:0000481	Abnormal cornea morphology	10210	TOPORS	ORPHA:791
HP:0000481	Abnormal cornea morphology	8842	PROM1	ORPHA:791
HP:0000481	Abnormal cornea morphology	9128	PRPF4	ORPHA:791
HP:0000481	Abnormal cornea morphology	50939	IMPG2	ORPHA:791
HP:0000481	Abnormal cornea morphology	8481	OFD1	ORPHA:791
HP:0000481	Abnormal cornea morphology	49855	SCAPER	ORPHA:791
HP:0000481	Abnormal cornea morphology	2979	GUCA1B	ORPHA:791
HP:0000481	Abnormal cornea morphology	1259	CNGA1	ORPHA:791
HP:0000481	Abnormal cornea morphology	1258	CNGB1	ORPHA:791
HP:0000481	Abnormal cornea morphology	60509	AGBL5	ORPHA:791
HP:0000481	Abnormal cornea morphology	5961	PRPH2	ORPHA:791
HP:0000481	Abnormal cornea morphology	388939	PCARE	ORPHA:791
HP:0000481	Abnormal cornea morphology	7439	BEST1	ORPHA:791
HP:0000481	Abnormal cornea morphology	9785	DHX38	ORPHA:791
HP:0000481	Abnormal cornea morphology	5995	RGR	ORPHA:791
HP:0000481	Abnormal cornea morphology	9129	PRPF3	ORPHA:791
HP:0000481	Abnormal cornea morphology	55975	KLHL7	ORPHA:791
HP:0000481	Abnormal cornea morphology	3617	IMPG1	ORPHA:791
HP:0000481	Abnormal cornea morphology	94137	RP1L1	ORPHA:791
HP:0000481	Abnormal cornea morphology	5158	PDE6B	ORPHA:791
HP:0000481	Abnormal cornea morphology	6102	RP2	ORPHA:791
HP:0000481	Abnormal cornea morphology	55857	KIZ	ORPHA:791
HP:0000481	Abnormal cornea morphology	64218	SEMA4A	ORPHA:791
HP:0000481	Abnormal cornea morphology	4901	NRL	ORPHA:791
HP:0000481	Abnormal cornea morphology	157657	CFAP418	ORPHA:791
HP:0000481	Abnormal cornea morphology	10594	PRPF8	ORPHA:791
HP:0000481	Abnormal cornea morphology	6295	SAG	ORPHA:791
HP:0000481	Abnormal cornea morphology	79947	DHDDS	ORPHA:791
HP:0000481	Abnormal cornea morphology	5351	PLOD1	OMIM:225400
HP:0000481	Abnormal cornea morphology	84627	ZNF469	OMIM:229200
HP:0000481	Abnormal cornea morphology	84168	ANTXR1	OMIM:230740
HP:0000481	Abnormal cornea morphology	84168	ANTXR1	ORPHA:2067
HP:0000481	Abnormal cornea morphology	11107	PRDM5	OMIM:614170
HP:0000481	Abnormal cornea morphology	162	AP1B1	OMIM:242150
HP:0000481	Abnormal cornea morphology	10681	GNB5	ORPHA:542306
HP:0000481	Abnormal cornea morphology	113457	TUBA3D	OMIM:617928
HP:0000481	Abnormal cornea morphology	80781	COL18A1	OMIM:267750
HP:0000481	Abnormal cornea morphology	8671	SLC4A4	OMIM:604278
HP:0000481	Abnormal cornea morphology	3560	IL2RB	ORPHA:85410
HP:0000481	Abnormal cornea morphology	79722	ANKRD55	ORPHA:85410
HP:0000481	Abnormal cornea morphology	26191	PTPN22	ORPHA:85410
HP:0000481	Abnormal cornea morphology	919	CD247	ORPHA:85410
HP:0000481	Abnormal cornea morphology	3559	IL2RA	ORPHA:85410
HP:0000481	Abnormal cornea morphology	5771	PTPN2	ORPHA:85410
HP:0000481	Abnormal cornea morphology	2778	GNAS	ORPHA:79443
HP:0000481	Abnormal cornea morphology	9653	HS2ST1	OMIM:619194
HP:0000481	Abnormal cornea morphology	9993	DGCR2	OMIM:192430
HP:0000481	Abnormal cornea morphology	8220	ESS2	OMIM:192430
HP:0000481	Abnormal cornea morphology	8214	DGCR6	OMIM:192430
HP:0000481	Abnormal cornea morphology	54487	DGCR8	OMIM:192430
HP:0000481	Abnormal cornea morphology	4853	NOTCH2	OMIM:610205
HP:0000481	Abnormal cornea morphology	6657	SOX2	ORPHA:77298
HP:0000481	Abnormal cornea morphology	6657	SOX2	OMIM:206900
HP:0000481	Abnormal cornea morphology	30062	RAX	OMIM:611038
HP:0000481	Abnormal cornea morphology	9896	FIG4	OMIM:216340
HP:0000481	Abnormal cornea morphology	9896	FIG4	ORPHA:3472
HP:0000481	Abnormal cornea morphology	55697	VAC14	ORPHA:3472
HP:0000481	Abnormal cornea morphology	91179	SCARF2	OMIM:600920
HP:0000481	Abnormal cornea morphology	8550	MAPKAPK5	OMIM:619869
HP:0000481	Abnormal cornea morphology	1717	DHCR7	ORPHA:818
HP:0000481	Abnormal cornea morphology	55315	SLC29A3	OMIM:602782
HP:0000481	Abnormal cornea morphology	55315	SLC29A3	ORPHA:168569
HP:0000481	Abnormal cornea morphology	255738	PCSK9	OMIM:603776
HP:0000481	Abnormal cornea morphology	338	APOB	OMIM:144010
HP:0000481	Abnormal cornea morphology	336	APOA2	OMIM:143890
HP:0000481	Abnormal cornea morphology	2053	EPHX2	OMIM:143890
HP:0000481	Abnormal cornea morphology	10842	PPP1R17	OMIM:143890
HP:0000481	Abnormal cornea morphology	2690	GHR	OMIM:143890
HP:0000481	Abnormal cornea morphology	3949	LDLR	OMIM:143890
HP:0000481	Abnormal cornea morphology	3990	LIPC	OMIM:614025
HP:0000481	Abnormal cornea morphology	348	APOE	ORPHA:412
HP:0000481	Abnormal cornea morphology	64241	ABCG8	OMIM:210250
HP:0000481	Abnormal cornea morphology	2261	FGFR3	ORPHA:2363
HP:0000481	Abnormal cornea morphology	2255	FGF10	ORPHA:2363
HP:0000481	Abnormal cornea morphology	3141	HLCS	ORPHA:79242
HP:0000481	Abnormal cornea morphology	7390	UROS	ORPHA:79277
HP:0000481	Abnormal cornea morphology	2623	GATA1	ORPHA:79277
HP:0000481	Abnormal cornea morphology	7389	UROD	ORPHA:95159
HP:0000481	Abnormal cornea morphology	6335	SCN9A	OMIM:133020
HP:0000481	Abnormal cornea morphology	54941	RNF125	OMIM:616260
HP:0000481	Abnormal cornea morphology	55699	IARS2	OMIM:616007
HP:0000481	Abnormal cornea morphology	4547	MTTP	ORPHA:14
HP:0000481	Abnormal cornea morphology	2934	GSN	ORPHA:85448
HP:0000481	Abnormal cornea morphology	64127	NOD2	OMIM:617321
HP:0000481	Abnormal cornea morphology	4081	MAB21L1	OMIM:618479
HP:0000481	Abnormal cornea morphology	3930	LBR	ORPHA:779
HP:0000481	Abnormal cornea morphology	56244	BTNL2	ORPHA:797
HP:0000481	Abnormal cornea morphology	3123	HLA-DRB1	ORPHA:797
HP:0000481	Abnormal cornea morphology	149233	IL23R	ORPHA:117
HP:0000481	Abnormal cornea morphology	6775	STAT4	ORPHA:117
HP:0000481	Abnormal cornea morphology	3586	IL10	ORPHA:117
HP:0000481	Abnormal cornea morphology	4210	MEFV	ORPHA:117
HP:0000481	Abnormal cornea morphology	1230	CCR1	ORPHA:117
HP:0000481	Abnormal cornea morphology	355	FAS	ORPHA:117
HP:0000481	Abnormal cornea morphology	3592	IL12A	ORPHA:117
HP:0000481	Abnormal cornea morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000481	Abnormal cornea morphology	3106	HLA-B	ORPHA:117
HP:0000481	Abnormal cornea morphology	7099	TLR4	ORPHA:117
HP:0000481	Abnormal cornea morphology	3459	IFNGR1	ORPHA:117
HP:0000481	Abnormal cornea morphology	720	C4A	ORPHA:117
HP:0000481	Abnormal cornea morphology	337867	UBAC2	ORPHA:117
HP:0000481	Abnormal cornea morphology	51752	ERAP1	ORPHA:117
HP:0000481	Abnormal cornea morphology	8302	KLRC4	ORPHA:117
HP:0000481	Abnormal cornea morphology	4070	TACSTD2	OMIM:204870
HP:0000481	Abnormal cornea morphology	1634	DCN	OMIM:610048
HP:0000481	Abnormal cornea morphology	29914	UBIAD1	OMIM:121800
HP:0000481	Abnormal cornea morphology	1308	COL17A1	ORPHA:293381
HP:0000481	Abnormal cornea morphology	291	SLC25A4	ORPHA:1369
HP:0000481	Abnormal cornea morphology	26007	TKFC	ORPHA:1369
HP:0000481	Abnormal cornea morphology	55750	AGK	ORPHA:1369
HP:0000481	Abnormal cornea morphology	2776	GNAQ	ORPHA:3205
HP:0000481	Abnormal cornea morphology	2652	OPN1MW	ORPHA:16
HP:0000481	Abnormal cornea morphology	5956	OPN1LW	ORPHA:16
HP:0000481	Abnormal cornea morphology	23404	EXOSC2	OMIM:617763
HP:0000481	Abnormal cornea morphology	3859	KRT12	OMIM:122100
HP:0000481	Abnormal cornea morphology	207	AKT1	OMIM:176920
HP:0000481	Abnormal cornea morphology	5728	PTEN	ORPHA:2969
HP:0000481	Abnormal cornea morphology	6299	SALL1	ORPHA:857
HP:0000481	Abnormal cornea morphology	51339	DACT1	ORPHA:857
HP:0000481	Abnormal cornea morphology	10992	SF3B2	OMIM:164210
HP:0000481	Abnormal cornea morphology	4140	MARK3	OMIM:618283
HP:0000481	Abnormal cornea morphology	7042	TGFB2	OMIM:614816
HP:0000481	Abnormal cornea morphology	5309	PITX3	OMIM:107250
HP:0000481	Abnormal cornea morphology	2074	ERCC6	OMIM:133540
HP:0000481	Abnormal cornea morphology	6309	SC5D	ORPHA:46059
HP:0000481	Abnormal cornea morphology	6309	SC5D	OMIM:607330
HP:0000481	Abnormal cornea morphology	59341	TRPV4	OMIM:184095
HP:0000481	Abnormal cornea morphology	2588	GALNS	OMIM:253000
HP:0000481	Abnormal cornea morphology	114548	NLRP3	OMIM:148200
HP:0000481	Abnormal cornea morphology	5308	PITX2	ORPHA:708
HP:0000481	Abnormal cornea morphology	2296	FOXC1	ORPHA:708
HP:0000481	Abnormal cornea morphology	84942	WDR73	OMIM:251300
HP:0000481	Abnormal cornea morphology	335	APOA1	ORPHA:425
HP:0000481	Abnormal cornea morphology	6720	SREBF1	OMIM:158310
HP:0000481	Abnormal cornea morphology	2312	FLG	ORPHA:461
HP:0000481	Abnormal cornea morphology	51715	RAB23	OMIM:201000
HP:0000481	Abnormal cornea morphology	100506658	OCLN	OMIM:251290
HP:0000481	Abnormal cornea morphology	326	AIRE	ORPHA:3453
HP:0000481	Abnormal cornea morphology	1161	ERCC8	OMIM:216400
HP:0000481	Abnormal cornea morphology	84572	GNPTG	OMIM:252605
HP:0000481	Abnormal cornea morphology	4668	NAGA	ORPHA:79280
HP:0000481	Abnormal cornea morphology	3977	LIFR	OMIM:601559
HP:0000481	Abnormal cornea morphology	338917	VSX2	OMIM:610093
HP:0000481	Abnormal cornea morphology	4914	NTRK1	OMIM:256800
HP:0000481	Abnormal cornea morphology	6399	TRAPPC2	OMIM:313400
HP:0000481	Abnormal cornea morphology	7490	WT1	OMIM:106210
HP:0000481	Abnormal cornea morphology	2068	ERCC2	ORPHA:910
HP:0000481	Abnormal cornea morphology	7507	XPA	ORPHA:910
HP:0000481	Abnormal cornea morphology	2071	ERCC3	ORPHA:910
HP:0000481	Abnormal cornea morphology	7508	XPC	ORPHA:910
HP:0000481	Abnormal cornea morphology	1643	DDB2	ORPHA:910
HP:0000481	Abnormal cornea morphology	2072	ERCC4	ORPHA:910
HP:0000481	Abnormal cornea morphology	2073	ERCC5	ORPHA:910
HP:0000481	Abnormal cornea morphology	91851	CHRDL1	OMIM:309300
HP:0000481	Abnormal cornea morphology	5696	PSMB8	OMIM:256040
HP:0000481	Abnormal cornea morphology	285440	CYP4V2	OMIM:210370
HP:0000481	Abnormal cornea morphology	8518	ELP1	ORPHA:1764
HP:0000481	Abnormal cornea morphology	23556	PIGN	ORPHA:2059
HP:0000481	Abnormal cornea morphology	5832	ALDH18A1	OMIM:616603
HP:0000481	Abnormal cornea morphology	5832	ALDH18A1	ORPHA:90348
HP:0000481	Abnormal cornea morphology	145173	B3GLCT	ORPHA:709
HP:0000481	Abnormal cornea morphology	4693	NDP	OMIM:310600
HP:0000481	Abnormal cornea morphology	4693	NDP	ORPHA:91495
HP:0000481	Abnormal cornea morphology	4693	NDP	ORPHA:649
HP:0000481	Abnormal cornea morphology	220202	ATOH7	ORPHA:91495
HP:0000481	Abnormal cornea morphology	220202	ATOH7	OMIM:221900
HP:0000481	Abnormal cornea morphology	8322	FZD4	ORPHA:91495
HP:0000481	Abnormal cornea morphology	80144	FRAS1	OMIM:219000
HP:0000481	Abnormal cornea morphology	126792	B3GALT6	OMIM:609465
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:93399
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:812
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:93400
HP:0000481	Abnormal cornea morphology	411	ARSB	OMIM:253200
HP:0000481	Abnormal cornea morphology	7045	TGFBI	ORPHA:98964
HP:0000481	Abnormal cornea morphology	7045	TGFBI	OMIM:608470
HP:0000481	Abnormal cornea morphology	55593	OTUD5	OMIM:301056
HP:0000481	Abnormal cornea morphology	4125	MAN2B1	ORPHA:309282
HP:0000481	Abnormal cornea morphology	4125	MAN2B1	ORPHA:309288
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	ORPHA:293603
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	ORPHA:1490
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	ORPHA:98974
HP:0000481	Abnormal cornea morphology	54101	RIPK4	ORPHA:1234
HP:0000481	Abnormal cornea morphology	6905	TBCE	ORPHA:2323
HP:0000481	Abnormal cornea morphology	10413	YAP1	ORPHA:1473
HP:0000481	Abnormal cornea morphology	5080	PAX6	ORPHA:137902
HP:0000481	Abnormal cornea morphology	5080	PAX6	OMIM:120200
HP:0000481	Abnormal cornea morphology	4952	OCRL	ORPHA:534
HP:0000481	Abnormal cornea morphology	29954	POMT2	OMIM:236670
HP:0000481	Abnormal cornea morphology	29954	POMT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	9215	LARGE1	OMIM:236670
HP:0000481	Abnormal cornea morphology	9215	LARGE1	ORPHA:899
HP:0000481	Abnormal cornea morphology	79147	FKRP	OMIM:236670
HP:0000481	Abnormal cornea morphology	79147	FKRP	ORPHA:899
HP:0000481	Abnormal cornea morphology	79147	FKRP	OMIM:613153
HP:0000481	Abnormal cornea morphology	10585	POMT1	OMIM:236670
HP:0000481	Abnormal cornea morphology	10585	POMT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	2218	FKTN	OMIM:236670
HP:0000481	Abnormal cornea morphology	2218	FKTN	ORPHA:899
HP:0000481	Abnormal cornea morphology	84892	POMGNT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	148789	B3GALNT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	1282	COL4A1	ORPHA:899
HP:0000481	Abnormal cornea morphology	1282	COL4A1	OMIM:175780
HP:0000481	Abnormal cornea morphology	729920	CRPPA	ORPHA:899
HP:0000481	Abnormal cornea morphology	10329	RXYLT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	1605	DAG1	ORPHA:899
HP:0000481	Abnormal cornea morphology	11041	B4GAT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	84197	POMK	ORPHA:899
HP:0000481	Abnormal cornea morphology	55624	POMGNT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	427	ASAH1	ORPHA:333
HP:0000481	Abnormal cornea morphology	5980	REV3L	ORPHA:570
HP:0000481	Abnormal cornea morphology	23129	PLXND1	ORPHA:570
HP:0000481	Abnormal cornea morphology	51360	MBTPS2	ORPHA:2273
HP:0000481	Abnormal cornea morphology	10584	COLEC10	OMIM:248340
HP:0000481	Abnormal cornea morphology	1545	CYP1B1	OMIM:617315
HP:0000481	Abnormal cornea morphology	3423	IDS	ORPHA:217085
HP:0000481	Abnormal cornea morphology	3423	IDS	ORPHA:217093
HP:0000481	Abnormal cornea morphology	5155	PDGFB	ORPHA:1980
HP:0000481	Abnormal cornea morphology	9213	XPR1	ORPHA:1980
HP:0000481	Abnormal cornea morphology	5159	PDGFRB	ORPHA:1980
HP:0000481	Abnormal cornea morphology	5159	PDGFRB	OMIM:601812
HP:0000481	Abnormal cornea morphology	57462	MYORG	ORPHA:1980
HP:0000481	Abnormal cornea morphology	6575	SLC20A2	ORPHA:1980
HP:0000481	Abnormal cornea morphology	58494	JAM2	ORPHA:1980
HP:0000481	Abnormal cornea morphology	412	STS	ORPHA:281090
HP:0000481	Abnormal cornea morphology	27151	CPAMD8	OMIM:617319
HP:0000481	Abnormal cornea morphology	2260	FGFR1	ORPHA:2396
HP:0000481	Abnormal cornea morphology	3845	KRAS	ORPHA:2396
HP:0000481	Abnormal cornea morphology	3845	KRAS	OMIM:163200
HP:0000481	Abnormal cornea morphology	1147	CHUK	OMIM:619339
HP:0000481	Abnormal cornea morphology	2717	GLA	ORPHA:324
HP:0000481	Abnormal cornea morphology	4323	MMP14	OMIM:277950
HP:0000481	Abnormal cornea morphology	54539	NDUFB11	ORPHA:2556
HP:0000481	Abnormal cornea morphology	1349	COX7B	ORPHA:2556
HP:0000481	Abnormal cornea morphology	3052	HCCS	ORPHA:2556
HP:0000481	Abnormal cornea morphology	6768	ST14	OMIM:602400
HP:0000481	Abnormal cornea morphology	6898	TAT	ORPHA:28378
HP:0000481	Abnormal cornea morphology	9184	BUB3	ORPHA:1052
HP:0000481	Abnormal cornea morphology	699	BUB1	ORPHA:1052
HP:0000481	Abnormal cornea morphology	9702	CEP57	ORPHA:1052
HP:0000481	Abnormal cornea morphology	9319	TRIP13	ORPHA:1052
HP:0000481	Abnormal cornea morphology	701	BUB1B	ORPHA:1052
HP:0000481	Abnormal cornea morphology	4053	LTBP2	OMIM:613086
HP:0000481	Abnormal cornea morphology	2720	GLB1	OMIM:253010
HP:0000481	Abnormal cornea morphology	4041	LRP5	ORPHA:2788
HP:0000481	Abnormal cornea morphology	1301	COL11A1	ORPHA:90654
HP:0000481	Abnormal cornea morphology	93627	TBCK	ORPHA:488632
HP:0000481	Abnormal cornea morphology	2301	FOXE3	OMIM:610256
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607014
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607016
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607015
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93474
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93473
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93476
HP:0000481	Abnormal cornea morphology	2697	GJA1	ORPHA:317
HP:0000481	Abnormal cornea morphology	2707	GJB3	ORPHA:317
HP:0000481	Abnormal cornea morphology	2531	KDSR	ORPHA:317
HP:0000481	Abnormal cornea morphology	127534	GJB4	ORPHA:317
HP:0000481	Abnormal cornea morphology	9487	PIGL	ORPHA:3474
HP:0000481	Abnormal cornea morphology	11081	KERA	OMIM:217300
HP:0000481	Abnormal cornea morphology	5476	CTSA	ORPHA:351
HP:0000481	Abnormal cornea morphology	55768	NGLY1	OMIM:615273
HP:0000481	Abnormal cornea morphology	64840	PORCN	ORPHA:2092
HP:0000481	Abnormal cornea morphology	1296	COL8A2	OMIM:609140
HP:0000481	Abnormal cornea morphology	1296	COL8A2	ORPHA:98973
HP:0000481	Abnormal cornea morphology	1296	COL8A2	ORPHA:98974
HP:0000481	Abnormal cornea morphology	4519	MT-CYB	ORPHA:137675
HP:0000481	Abnormal cornea morphology	6804	STX1A	ORPHA:904
HP:0000481	Abnormal cornea morphology	7461	CLIP2	ORPHA:904
HP:0000481	Abnormal cornea morphology	84277	DNAJC30	ORPHA:904
HP:0000481	Abnormal cornea morphology	8468	FKBP6	ORPHA:904
HP:0000481	Abnormal cornea morphology	5982	RFC2	ORPHA:904
HP:0000481	Abnormal cornea morphology	2969	GTF2I	ORPHA:904
HP:0000481	Abnormal cornea morphology	3984	LIMK1	ORPHA:904
HP:0000481	Abnormal cornea morphology	9569	GTF2IRD1	ORPHA:904
HP:0000481	Abnormal cornea morphology	155382	VPS37D	ORPHA:904
HP:0000481	Abnormal cornea morphology	155368	METTL27	ORPHA:904
HP:0000481	Abnormal cornea morphology	114049	BUD23	ORPHA:904
HP:0000481	Abnormal cornea morphology	7458	EIF4H	ORPHA:904
HP:0000481	Abnormal cornea morphology	84163	GTF2IRD2	ORPHA:904
HP:0000481	Abnormal cornea morphology	9275	BCL7B	ORPHA:904
HP:0000481	Abnormal cornea morphology	26608	TBL2	ORPHA:904
HP:0000481	Abnormal cornea morphology	653361	NCF1	ORPHA:904
HP:0000481	Abnormal cornea morphology	135886	TMEM270	ORPHA:904
HP:0000481	Abnormal cornea morphology	51085	MLXIPL	ORPHA:904
HP:0000481	Abnormal cornea morphology	9031	BAZ1B	ORPHA:904
HP:0000481	Abnormal cornea morphology	2006	ELN	ORPHA:904
HP:0000481	Abnormal cornea morphology	2006	ELN	ORPHA:90348
HP:0000481	Abnormal cornea morphology	4893	NRAS	OMIM:163200
HP:0000481	Abnormal cornea morphology	3265	HRAS	OMIM:163200
HP:0000481	Abnormal cornea morphology	1859	DYRK1A	ORPHA:464311
HP:0000481	Abnormal cornea morphology	2517	FUCA1	ORPHA:349
HP:0000481	Abnormal cornea morphology	285362	SUMF1	OMIM:272200
HP:0000481	Abnormal cornea morphology	285362	SUMF1	ORPHA:585
HP:0000481	Abnormal cornea morphology	8517	IKBKG	ORPHA:464
HP:0000481	Abnormal cornea morphology	2990	GUSB	ORPHA:584
HP:0000481	Abnormal cornea morphology	2990	GUSB	OMIM:253220
HP:0000481	Abnormal cornea morphology	4000	LMNA	ORPHA:740
HP:0000481	Abnormal cornea morphology	10269	ZMPSTE24	ORPHA:740
HP:0000481	Abnormal cornea morphology	55210	ATAD3A	ORPHA:496790
HP:0000481	Abnormal cornea morphology	55210	ATAD3A	OMIM:617183
HP:0000481	Abnormal cornea morphology	162514	TRPV3	OMIM:614594
HP:0000481	Abnormal cornea morphology	5130	PCYT1A	ORPHA:85167
HP:0000481	Abnormal cornea morphology	50485	SMARCAL1	ORPHA:1830
HP:0000481	Abnormal cornea morphology	6925	TCF4	OMIM:613267
HP:0000481	Abnormal cornea morphology	6925	TCF4	ORPHA:98974
HP:0000481	Abnormal cornea morphology	3931	LCAT	ORPHA:79292
HP:0000481	Abnormal cornea morphology	57192	MCOLN1	ORPHA:578
HP:0000481	Abnormal cornea morphology	57192	MCOLN1	OMIM:252650
HP:0000481	Abnormal cornea morphology	11128	POLR3A	ORPHA:3455
HP:0000481	Abnormal cornea morphology	19	ABCA1	ORPHA:31150
HP:0000481	Abnormal cornea morphology	7837	PXDN	OMIM:269400
HP:0000481	Abnormal cornea morphology	5295	PIK3R1	ORPHA:3163
HP:0000481	Abnormal cornea morphology	5331	PLCB3	OMIM:618961
HP:0000481	Abnormal cornea morphology	55612	FERMT1	ORPHA:2908
HP:0000481	Abnormal cornea morphology	2629	GBA1	ORPHA:2072
HP:0000481	Abnormal cornea morphology	10516	FBLN5	ORPHA:90348
HP:0000481	Abnormal cornea morphology	4094	MAF	OMIM:610202
HP:0000481	Abnormal cornea morphology	4094	MAF	ORPHA:1377
HP:0000481	Abnormal cornea morphology	9939	RBM8A	OMIM:274000
HP:0000481	Abnormal cornea morphology	4313	MMP2	OMIM:259600
HP:0000481	Abnormal cornea morphology	117581	TWIST2	ORPHA:920
HP:0000481	Abnormal cornea morphology	157570	ESCO2	OMIM:268300
HP:0000481	Abnormal cornea morphology	2317	FLNB	OMIM:150250
HP:0000481	Abnormal cornea morphology	3832	KIF11	OMIM:152950
HP:0000481	Abnormal cornea morphology	58495	OVOL2	OMIM:122000
HP:0000481	Abnormal cornea morphology	58495	OVOL2	ORPHA:98973
HP:0000481	Abnormal cornea morphology	2703	GJA8	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1413	CRYBA4	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1409	CRYAA	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1415	CRYBB2	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1414	CRYBB1	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1420	CRYGC	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1421	CRYGD	ORPHA:1377
HP:0000481	Abnormal cornea morphology	9935	MAFB	OMIM:166300
HP:0000481	Abnormal cornea morphology	55670	PEX26	ORPHA:912
HP:0000481	Abnormal cornea morphology	5824	PEX19	ORPHA:912
HP:0000481	Abnormal cornea morphology	5828	PEX2	ORPHA:912
HP:0000481	Abnormal cornea morphology	8504	PEX3	ORPHA:912
HP:0000481	Abnormal cornea morphology	8799	PEX11B	ORPHA:912
HP:0000481	Abnormal cornea morphology	9409	PEX16	ORPHA:912
HP:0000481	Abnormal cornea morphology	5190	PEX6	ORPHA:912
HP:0000481	Abnormal cornea morphology	5830	PEX5	ORPHA:912
HP:0000481	Abnormal cornea morphology	5189	PEX1	ORPHA:912
HP:0000481	Abnormal cornea morphology	5193	PEX12	ORPHA:912
HP:0000481	Abnormal cornea morphology	5194	PEX13	ORPHA:912
HP:0000481	Abnormal cornea morphology	5195	PEX14	ORPHA:912
HP:0000481	Abnormal cornea morphology	5192	PEX10	ORPHA:912
HP:0000481	Abnormal cornea morphology	3852	KRT5	ORPHA:79396
HP:0000481	Abnormal cornea morphology	3861	KRT14	ORPHA:79396
HP:0000481	Abnormal cornea morphology	6935	ZEB1	ORPHA:98973
HP:0000481	Abnormal cornea morphology	6935	ZEB1	ORPHA:98974
HP:0000481	Abnormal cornea morphology	30813	VSX1	ORPHA:98973
HP:0000481	Abnormal cornea morphology	79977	GRHL2	ORPHA:98973
HP:0000481	Abnormal cornea morphology	54808	DYM	ORPHA:239
HP:0000481	Abnormal cornea morphology	123624	AGBL1	ORPHA:98974
HP:0000481	Abnormal cornea morphology	200576	PIKFYVE	OMIM:121850
HP:0000481	Abnormal cornea morphology	6655	SOS2	OMIM:616559
HP:0000481	Abnormal cornea morphology	8216	LZTR1	OMIM:616564
HP:0000481	Abnormal cornea morphology	1312	COMT	ORPHA:567
HP:0000481	Abnormal cornea morphology	221037	JMJD1C	ORPHA:567
HP:0000481	Abnormal cornea morphology	2812	GP1BB	ORPHA:567
HP:0000481	Abnormal cornea morphology	6239	RREB1	ORPHA:567
HP:0000481	Abnormal cornea morphology	6899	TBX1	ORPHA:567
HP:0000481	Abnormal cornea morphology	7290	HIRA	ORPHA:567
HP:0000481	Abnormal cornea morphology	9632	SEC24C	ORPHA:567
HP:0000481	Abnormal cornea morphology	7353	UFD1	ORPHA:567
HP:0000481	Abnormal cornea morphology	421	ARVCF	ORPHA:567
HP:0000481	Abnormal cornea morphology	10804	GJB6	ORPHA:477
HP:0000481	Abnormal cornea morphology	2706	GJB2	ORPHA:477
HP:0000481	Abnormal cornea morphology	2706	GJB2	OMIM:602540
HP:0000481	Abnormal cornea morphology	4072	EPCAM	ORPHA:92050
HP:0000481	Abnormal cornea morphology	105371045	PERCC1	ORPHA:92050
HP:0000481	Abnormal cornea morphology	22861	NLRP1	OMIM:617388
HP:0000481	Abnormal cornea morphology	5339	PLEC	OMIM:226670
HP:0000481	Abnormal cornea morphology	710	SERPING1	ORPHA:100050
HP:0000481	Abnormal cornea morphology	10935	PRDX3	OMIM:619871
HP:0000481	Abnormal cornea morphology	4921	DDR2	OMIM:618175
HP:0000481	Abnormal cornea morphology	10320	IKZF1	ORPHA:36426
HP:0000481	Abnormal cornea morphology	8218	CLTCL1	ORPHA:453510
HP:0000481	Abnormal cornea morphology	1285	COL4A3	OMIM:203780
HP:0000481	Abnormal cornea morphology	1286	COL4A4	OMIM:203780
HP:0000481	Abnormal cornea morphology	2303	FOXC2	ORPHA:33001
HP:0000481	Abnormal cornea morphology	10653	SPINT2	OMIM:270420
HP:0000481	Abnormal cornea morphology	55630	SLC39A4	ORPHA:37
HP:0000481	Abnormal cornea morphology	8626	TP63	ORPHA:1896
HP:0000481	Abnormal cornea morphology	5336	PLCG2	OMIM:614878
HP:0000481	Abnormal cornea morphology	242	ALOX12B	ORPHA:79394
HP:0000481	Abnormal cornea morphology	204219	CERS3	ORPHA:79394
HP:0000481	Abnormal cornea morphology	26154	ABCA12	ORPHA:79394
HP:0000481	Abnormal cornea morphology	285848	PNPLA1	ORPHA:79394
HP:0000481	Abnormal cornea morphology	59344	ALOXE3	ORPHA:79394
HP:0000481	Abnormal cornea morphology	348938	NIPAL4	ORPHA:79394
HP:0000481	Abnormal cornea morphology	7051	TGM1	ORPHA:79394
HP:0000481	Abnormal cornea morphology	1287	COL4A5	OMIM:301050
HP:0000481	Abnormal cornea morphology	540	ATP7B	ORPHA:905
HP:0000481	Abnormal cornea morphology	540	ATP7B	OMIM:277900
HP:0000481	Abnormal cornea morphology	7407	VARS1	OMIM:617802
HP:0000481	Abnormal cornea morphology	1261	CNGA3	OMIM:216900
HP:0000481	Abnormal cornea morphology	7030	TFE3	OMIM:301066
HP:0000481	Abnormal cornea morphology	23162	MAPK8IP3	OMIM:618443
HP:0000481	Abnormal cornea morphology	1278	COL1A2	ORPHA:230851
HP:0000481	Abnormal cornea morphology	10093	ARPC4	OMIM:620141
HP:0000483	Astigmatism	7528	YY1	ORPHA:506358
HP:0000483	Astigmatism	778	CACNA1F	OMIM:300476
HP:0000483	Astigmatism	778	CACNA1F	ORPHA:178333
HP:0000483	Astigmatism	778	CACNA1F	OMIM:300600
HP:0000483	Astigmatism	8036	SHOC2	OMIM:607721
HP:0000483	Astigmatism	5076	PAX2	ORPHA:97362
HP:0000483	Astigmatism	5087	PBX1	ORPHA:97362
HP:0000483	Astigmatism	23394	ADNP	ORPHA:404448
HP:0000483	Astigmatism	23394	ADNP	OMIM:615873
HP:0000483	Astigmatism	4099	MAG	OMIM:616680
HP:0000483	Astigmatism	4099	MAG	ORPHA:459056
HP:0000483	Astigmatism	51256	TBC1D7	OMIM:248000
HP:0000483	Astigmatism	9759	HDAC4	OMIM:619797
HP:0000483	Astigmatism	30000	TNPO2	OMIM:619556
HP:0000483	Astigmatism	9158	FIBP	ORPHA:500095
HP:0000483	Astigmatism	1859	DYRK1A	ORPHA:268261
HP:0000483	Astigmatism	1859	DYRK1A	ORPHA:464311
HP:0000483	Astigmatism	23241	PACS2	OMIM:618067
HP:0000483	Astigmatism	10765	KDM5B	OMIM:618109
HP:0000483	Astigmatism	64116	SLC39A8	OMIM:616721
HP:0000483	Astigmatism	64116	SLC39A8	ORPHA:468699
HP:0000483	Astigmatism	7299	TYR	OMIM:203100
HP:0000483	Astigmatism	406960	MIR184	OMIM:614303
HP:0000483	Astigmatism	3008	H1-4	OMIM:617537
HP:0000483	Astigmatism	7003	TEAD1	OMIM:108985
HP:0000483	Astigmatism	118987	PDZD8	OMIM:620021
HP:0000483	Astigmatism	1299	COL9A3	OMIM:620022
HP:0000483	Astigmatism	1299	COL9A3	ORPHA:250984
HP:0000483	Astigmatism	84570	COL25A1	ORPHA:91411
HP:0000483	Astigmatism	79776	ZFHX4	ORPHA:91411
HP:0000483	Astigmatism	23126	POGZ	ORPHA:468678
HP:0000483	Astigmatism	23126	POGZ	OMIM:616364
HP:0000483	Astigmatism	64324	NSD1	ORPHA:821
HP:0000483	Astigmatism	29072	SETD2	ORPHA:821
HP:0000483	Astigmatism	10297	APC2	ORPHA:821
HP:0000483	Astigmatism	7045	TGFBI	ORPHA:98964
HP:0000483	Astigmatism	7045	TGFBI	ORPHA:98960
HP:0000483	Astigmatism	3981	LIG4	OMIM:606593
HP:0000483	Astigmatism	55593	OTUD5	OMIM:301056
HP:0000483	Astigmatism	4125	MAN2B1	ORPHA:309282
HP:0000483	Astigmatism	5575	PRKAR1B	OMIM:619680
HP:0000483	Astigmatism	146167	SLC38A8	OMIM:609218
HP:0000483	Astigmatism	89910	UBE3B	OMIM:244450
HP:0000483	Astigmatism	55209	SETD5	OMIM:615761
HP:0000483	Astigmatism	55215	FANCI	OMIM:609053
HP:0000483	Astigmatism	55215	FANCI	ORPHA:84
HP:0000483	Astigmatism	4010	LMX1B	ORPHA:495818
HP:0000483	Astigmatism	6812	STXBP1	ORPHA:495818
HP:0000483	Astigmatism	6905	TBCE	ORPHA:2323
HP:0000483	Astigmatism	10686	CLDN16	OMIM:248250
HP:0000483	Astigmatism	169522	KCNV2	OMIM:610356
HP:0000483	Astigmatism	5010	CLDN11	OMIM:619328
HP:0000483	Astigmatism	473	RERE	ORPHA:494344
HP:0000483	Astigmatism	55777	MBD5	OMIM:156200
HP:0000483	Astigmatism	51360	MBTPS2	ORPHA:2273
HP:0000483	Astigmatism	56915	EXOSC5	OMIM:619576
HP:0000483	Astigmatism	2590	GALNT2	OMIM:618885
HP:0000483	Astigmatism	57492	ARID1B	OMIM:135900
HP:0000483	Astigmatism	55870	ASH1L	OMIM:617796
HP:0000483	Astigmatism	2200	FBN1	OMIM:154700
HP:0000483	Astigmatism	2200	FBN1	OMIM:608328
HP:0000483	Astigmatism	54496	PRMT7	OMIM:617157
HP:0000483	Astigmatism	92255	LMBRD2	OMIM:619694
HP:0000483	Astigmatism	7275	TUB	OMIM:616188
HP:0000483	Astigmatism	2072	ERCC4	OMIM:278760
HP:0000483	Astigmatism	2072	ERCC4	ORPHA:84
HP:0000483	Astigmatism	113189	CHST14	ORPHA:2953
HP:0000483	Astigmatism	113189	CHST14	OMIM:601776
HP:0000483	Astigmatism	29940	DSE	ORPHA:2953
HP:0000483	Astigmatism	5119	CHMP1A	OMIM:614961
HP:0000483	Astigmatism	816	CAMK2B	OMIM:617799
HP:0000483	Astigmatism	30813	VSX1	OMIM:148300
HP:0000483	Astigmatism	30813	VSX1	ORPHA:98973
HP:0000483	Astigmatism	1108	CHD4	OMIM:617159
HP:0000483	Astigmatism	91851	CHRDL1	OMIM:309300
HP:0000483	Astigmatism	84100	ARL6	OMIM:209900
HP:0000483	Astigmatism	79140	CCDC28B	OMIM:209900
HP:0000483	Astigmatism	582	BBS1	OMIM:209900
HP:0000483	Astigmatism	708	C1QBP	OMIM:617713
HP:0000483	Astigmatism	672	BRCA1	ORPHA:84
HP:0000483	Astigmatism	10459	MAD2L2	ORPHA:84
HP:0000483	Astigmatism	7516	XRCC2	ORPHA:84
HP:0000483	Astigmatism	29089	UBE2T	ORPHA:84
HP:0000483	Astigmatism	675	BRCA2	ORPHA:84
HP:0000483	Astigmatism	55120	FANCL	ORPHA:84
HP:0000483	Astigmatism	2177	FANCD2	ORPHA:84
HP:0000483	Astigmatism	2175	FANCA	ORPHA:84
HP:0000483	Astigmatism	2187	FANCB	ORPHA:84
HP:0000483	Astigmatism	2176	FANCC	ORPHA:84
HP:0000483	Astigmatism	2178	FANCE	ORPHA:84
HP:0000483	Astigmatism	2188	FANCF	ORPHA:84
HP:0000483	Astigmatism	2189	FANCG	ORPHA:84
HP:0000483	Astigmatism	5888	RAD51	ORPHA:84
HP:0000483	Astigmatism	5889	RAD51C	ORPHA:84
HP:0000483	Astigmatism	55159	RFWD3	ORPHA:84
HP:0000483	Astigmatism	83990	BRIP1	ORPHA:84
HP:0000483	Astigmatism	57697	FANCM	ORPHA:84
HP:0000483	Astigmatism	79728	PALB2	ORPHA:84
HP:0000483	Astigmatism	84464	SLX4	ORPHA:84
HP:0000483	Astigmatism	9241	NOG	OMIM:186500
HP:0000483	Astigmatism	222663	SCUBE3	OMIM:619184
HP:0000483	Astigmatism	6045	RNF2	OMIM:619460
HP:0000483	Astigmatism	9401	RECQL4	OMIM:218600
HP:0000483	Astigmatism	9839	ZEB2	ORPHA:261552
HP:0000483	Astigmatism	9839	ZEB2	ORPHA:261537
HP:0000483	Astigmatism	372	ARCN1	OMIM:617164
HP:0000483	Astigmatism	9757	KMT2B	OMIM:617284
HP:0000483	Astigmatism	9757	KMT2B	OMIM:619934
HP:0000483	Astigmatism	54681	P4HTM	OMIM:618493
HP:0000483	Astigmatism	4761	NEUROD2	OMIM:618374
HP:0000483	Astigmatism	26040	SETBP1	OMIM:616078
HP:0000483	Astigmatism	57178	ZMIZ1	OMIM:618659
HP:0000483	Astigmatism	23065	EMC1	OMIM:616875
HP:0000483	Astigmatism	23065	EMC1	ORPHA:480898
HP:0000483	Astigmatism	4591	TRIM37	OMIM:253250
HP:0000483	Astigmatism	149461	CLDN19	OMIM:248190
HP:0000483	Astigmatism	165	AEBP1	ORPHA:536532
HP:0000483	Astigmatism	2743	GLRB	OMIM:614619
HP:0000483	Astigmatism	26160	IFT172	OMIM:619471
HP:0000483	Astigmatism	1798	DPAGT1	ORPHA:86309
HP:0000483	Astigmatism	84265	POLR3GL	OMIM:619234
HP:0000483	Astigmatism	253738	EBF3	OMIM:617330
HP:0000483	Astigmatism	57498	KIDINS220	OMIM:617296
HP:0000483	Astigmatism	29957	SLC25A24	ORPHA:2095
HP:0000483	Astigmatism	57003	CCDC47	OMIM:618268
HP:0000483	Astigmatism	134218	DNAJC21	OMIM:617052
HP:0000483	Astigmatism	57545	CC2D2A	OMIM:612285
HP:0000483	Astigmatism	51604	PIGT	ORPHA:369837
HP:0000483	Astigmatism	4659	PPP1R12A	OMIM:618820
HP:0000483	Astigmatism	8239	USP9X	ORPHA:480880
HP:0000483	Astigmatism	8239	USP9X	OMIM:300968
HP:0000483	Astigmatism	3098	HK1	OMIM:618547
HP:0000483	Astigmatism	9091	PIGQ	OMIM:618548
HP:0000483	Astigmatism	1282	COL4A1	OMIM:175780
HP:0000483	Astigmatism	63895	PIEZO2	OMIM:108145
HP:0000483	Astigmatism	6925	TCF4	ORPHA:2896
HP:0000483	Astigmatism	6925	TCF4	OMIM:610954
HP:0000483	Astigmatism	283446	MYO1H	OMIM:619482
HP:0000483	Astigmatism	8314	BAP1	OMIM:619762
HP:0000483	Astigmatism	29123	ANKRD11	ORPHA:261250
HP:0000483	Astigmatism	4784	NFIX	OMIM:614753
HP:0000483	Astigmatism	1806	DPYD	ORPHA:1675
HP:0000483	Astigmatism	1806	DPYD	ORPHA:293948
HP:0000483	Astigmatism	2890	GRIA1	OMIM:619927
HP:0000483	Astigmatism	23261	CAMTA1	OMIM:614756
HP:0000483	Astigmatism	51341	ZBTB7A	OMIM:619769
HP:0000483	Astigmatism	50485	SMARCAL1	OMIM:242900
HP:0000483	Astigmatism	9338	TCEAL1	OMIM:301094
HP:0000483	Astigmatism	7401	CLRN1	ORPHA:231183
HP:0000483	Astigmatism	22901	ARSG	ORPHA:231183
HP:0000483	Astigmatism	4575	MT-TS2	ORPHA:231183
HP:0000483	Astigmatism	3035	HARS1	ORPHA:231183
HP:0000483	Astigmatism	84131	CEP78	ORPHA:231183
HP:0000483	Astigmatism	51322	WAC	ORPHA:284169
HP:0000483	Astigmatism	51322	WAC	OMIM:616708
HP:0000483	Astigmatism	80267	EDEM3	OMIM:619493
HP:0000483	Astigmatism	5295	PIK3R1	OMIM:269880
HP:0000483	Astigmatism	81031	SLC2A10	OMIM:208050
HP:0000483	Astigmatism	5528	PPP2R5D	ORPHA:457279
HP:0000483	Astigmatism	387	RHOA	OMIM:618727
HP:0000483	Astigmatism	7994	KAT6A	OMIM:616268
HP:0000483	Astigmatism	25836	NIPBL	OMIM:122470
HP:0000483	Astigmatism	1107	CHD3	OMIM:618205
HP:0000483	Astigmatism	2316	FLNA	ORPHA:1826
HP:0000483	Astigmatism	6885	MAP3K7	ORPHA:1826
HP:0000483	Astigmatism	404672	GTF2H5	ORPHA:33364
HP:0000483	Astigmatism	833	CARS1	ORPHA:33364
HP:0000483	Astigmatism	2068	ERCC2	ORPHA:33364
HP:0000483	Astigmatism	7737	RNF113A	ORPHA:33364
HP:0000483	Astigmatism	136647	MPLKIP	ORPHA:33364
HP:0000483	Astigmatism	6897	TARS1	ORPHA:33364
HP:0000483	Astigmatism	2071	ERCC3	ORPHA:33364
HP:0000483	Astigmatism	2961	GTF2E2	ORPHA:33364
HP:0000483	Astigmatism	100151683	RNU4ATAC	ORPHA:1824
HP:0000483	Astigmatism	224	ALDH3A2	OMIM:270200
HP:0000483	Astigmatism	8943	AP3D1	ORPHA:54
HP:0000483	Astigmatism	3845	KRAS	OMIM:600268
HP:0000483	Astigmatism	55181	SMG8	OMIM:619268
HP:0000483	Astigmatism	26173	INTS1	OMIM:618571
HP:0000483	Astigmatism	9181	ARHGEF2	OMIM:617523
HP:0000483	Astigmatism	1297	COL9A1	OMIM:614134
HP:0000483	Astigmatism	1297	COL9A1	ORPHA:250984
HP:0000483	Astigmatism	1301	COL11A1	ORPHA:250984
HP:0000483	Astigmatism	1298	COL9A2	ORPHA:250984
HP:0000483	Astigmatism	84695	LOXL3	ORPHA:250984
HP:0000483	Astigmatism	27241	BBS9	OMIM:615986
HP:0000483	Astigmatism	55294	FBXW7	OMIM:620012
HP:0000483	Astigmatism	6935	ZEB1	ORPHA:98973
HP:0000483	Astigmatism	58495	OVOL2	ORPHA:98973
HP:0000483	Astigmatism	79977	GRHL2	ORPHA:98973
HP:0000483	Astigmatism	1296	COL8A2	ORPHA:98973
HP:0000483	Astigmatism	57459	GATAD2B	ORPHA:363686
HP:0000483	Astigmatism	4166	CHST6	ORPHA:98969
HP:0000483	Astigmatism	79158	GNPTAB	OMIM:252600
HP:0000483	Astigmatism	23102	TBC1D2B	ORPHA:397973
HP:0000483	Astigmatism	64221	ROBO3	OMIM:607313
HP:0000483	Astigmatism	4935	GPR143	OMIM:300814
HP:0000483	Astigmatism	5308	PITX2	OMIM:180550
HP:0000483	Astigmatism	60509	AGBL5	OMIM:617023
HP:0000483	Astigmatism	83959	SLC4A11	ORPHA:293603
HP:0000483	Astigmatism	1308	COL17A1	ORPHA:293381
HP:0000483	Astigmatism	7407	VARS1	OMIM:617802
HP:0000483	Astigmatism	1261	CNGA3	OMIM:216900
HP:0000483	Astigmatism	7030	TFE3	OMIM:301066
HP:0000483	Astigmatism	23162	MAPK8IP3	OMIM:618443
HP:0000483	Astigmatism	1278	COL1A2	ORPHA:230851
HP:0000483	Astigmatism	388552	BLOC1S3	OMIM:614077
HP:0000483	Astigmatism	3832	KIF11	OMIM:152950
HP:0000483	Astigmatism	10093	ARPC4	OMIM:620141
HP:0000484	Hyperopic astigmatism	57459	GATAD2B	ORPHA:363686
HP:0000484	Hyperopic astigmatism	4166	CHST6	ORPHA:98969
HP:0000484	Hyperopic astigmatism	79158	GNPTAB	OMIM:252600
HP:0000484	Hyperopic astigmatism	23102	TBC1D2B	ORPHA:397973
HP:0000484	Hyperopic astigmatism	64221	ROBO3	OMIM:607313
HP:0000484	Hyperopic astigmatism	4935	GPR143	OMIM:300814
HP:0000485	Megalocornea	5295	PIK3R1	OMIM:269880
HP:0000485	Megalocornea	5295	PIK3R1	ORPHA:3163
HP:0000485	Megalocornea	26277	TINF2	OMIM:268130
HP:0000485	Megalocornea	7010	TEK	OMIM:617272
HP:0000485	Megalocornea	26128	KIFBP	OMIM:609460
HP:0000485	Megalocornea	84168	ANTXR1	OMIM:230740
HP:0000485	Megalocornea	4519	MT-CYB	ORPHA:137675
HP:0000485	Megalocornea	6804	STX1A	ORPHA:904
HP:0000485	Megalocornea	7461	CLIP2	ORPHA:904
HP:0000485	Megalocornea	84277	DNAJC30	ORPHA:904
HP:0000485	Megalocornea	8468	FKBP6	ORPHA:904
HP:0000485	Megalocornea	5982	RFC2	ORPHA:904
HP:0000485	Megalocornea	2969	GTF2I	ORPHA:904
HP:0000485	Megalocornea	3984	LIMK1	ORPHA:904
HP:0000485	Megalocornea	9569	GTF2IRD1	ORPHA:904
HP:0000485	Megalocornea	155382	VPS37D	ORPHA:904
HP:0000485	Megalocornea	155368	METTL27	ORPHA:904
HP:0000485	Megalocornea	114049	BUD23	ORPHA:904
HP:0000485	Megalocornea	7458	EIF4H	ORPHA:904
HP:0000485	Megalocornea	84163	GTF2IRD2	ORPHA:904
HP:0000485	Megalocornea	9275	BCL7B	ORPHA:904
HP:0000485	Megalocornea	26608	TBL2	ORPHA:904
HP:0000485	Megalocornea	653361	NCF1	ORPHA:904
HP:0000485	Megalocornea	135886	TMEM270	ORPHA:904
HP:0000485	Megalocornea	51085	MLXIPL	ORPHA:904
HP:0000485	Megalocornea	9031	BAZ1B	ORPHA:904
HP:0000485	Megalocornea	2006	ELN	ORPHA:904
HP:0000485	Megalocornea	91851	CHRDL1	OMIM:309300
HP:0000485	Megalocornea	55624	POMGNT1	OMIM:253280
HP:0000485	Megalocornea	55624	POMGNT1	ORPHA:370959
HP:0000485	Megalocornea	5308	PITX2	OMIM:180500
HP:0000485	Megalocornea	2263	FGFR2	ORPHA:313855
HP:0000485	Megalocornea	2200	FBN1	ORPHA:284979
HP:0000485	Megalocornea	3778	KCNMA1	OMIM:618729
HP:0000485	Megalocornea	1009	CDH11	OMIM:211380
HP:0000485	Megalocornea	29925	GMPPB	ORPHA:370959
HP:0000485	Megalocornea	79147	FKRP	ORPHA:370959
HP:0000485	Megalocornea	79147	FKRP	OMIM:236670
HP:0000485	Megalocornea	29954	POMT2	ORPHA:370959
HP:0000485	Megalocornea	29954	POMT2	OMIM:236670
HP:0000485	Megalocornea	84197	POMK	ORPHA:370959
HP:0000485	Megalocornea	10585	POMT1	ORPHA:370959
HP:0000485	Megalocornea	10585	POMT1	OMIM:236670
HP:0000485	Megalocornea	10815	CPLX1	ORPHA:280
HP:0000485	Megalocornea	54872	PIGG	ORPHA:280
HP:0000485	Megalocornea	7469	NELFA	ORPHA:280
HP:0000485	Megalocornea	1487	CTBP1	ORPHA:280
HP:0000485	Megalocornea	3954	LETM1	ORPHA:280
HP:0000485	Megalocornea	7468	NSD2	ORPHA:280
HP:0000485	Megalocornea	4094	MAF	ORPHA:1272
HP:0000485	Megalocornea	5515	PPP2CA	OMIM:618354
HP:0000485	Megalocornea	285590	SH3PXD2B	OMIM:249420
HP:0000485	Megalocornea	11107	PRDM5	OMIM:614170
HP:0000485	Megalocornea	1301	COL11A1	OMIM:228520
HP:0000485	Megalocornea	2245	FGD1	ORPHA:915
HP:0000485	Megalocornea	79158	GNPTAB	OMIM:252500
HP:0000485	Megalocornea	4053	LTBP2	OMIM:251750
HP:0000485	Megalocornea	9215	LARGE1	OMIM:236670
HP:0000485	Megalocornea	2218	FKTN	OMIM:236670
HP:0000486	Strabismus	1718	DHCR24	OMIM:602398
HP:0000486	Strabismus	1718	DHCR24	ORPHA:35107
HP:0000486	Strabismus	2673	GFPT1	OMIM:608931
HP:0000486	Strabismus	1145	CHRNE	OMIM:608931
HP:0000486	Strabismus	1145	CHRNE	OMIM:605809
HP:0000486	Strabismus	23394	ADNP	ORPHA:404448
HP:0000486	Strabismus	23394	ADNP	OMIM:615873
HP:0000486	Strabismus	51256	TBC1D7	OMIM:248000
HP:0000486	Strabismus	340533	NEXMIF	OMIM:300912
HP:0000486	Strabismus	1139	CHRNA7	ORPHA:199318
HP:0000486	Strabismus	1139	CHRNA7	OMIM:612001
HP:0000486	Strabismus	23135	KDM6B	OMIM:618505
HP:0000486	Strabismus	1024	CDK8	OMIM:618748
HP:0000486	Strabismus	10059	DNM1L	OMIM:614388
HP:0000486	Strabismus	10059	DNM1L	ORPHA:330050
HP:0000486	Strabismus	7299	TYR	OMIM:203100
HP:0000486	Strabismus	7299	TYR	ORPHA:79434
HP:0000486	Strabismus	2677	GGCX	ORPHA:436274
HP:0000486	Strabismus	9254	CACNA2D2	OMIM:618501
HP:0000486	Strabismus	4897	NRCAM	OMIM:619833
HP:0000486	Strabismus	7021	TFAP2B	OMIM:169100
HP:0000486	Strabismus	7021	TFAP2B	ORPHA:46627
HP:0000486	Strabismus	5457	POU4F1	ORPHA:314647
HP:0000486	Strabismus	23261	CAMTA1	ORPHA:314647
HP:0000486	Strabismus	23261	CAMTA1	OMIM:614756
HP:0000486	Strabismus	51	ACOX1	ORPHA:2971
HP:0000486	Strabismus	51	ACOX1	OMIM:264470
HP:0000486	Strabismus	51099	ABHD5	OMIM:275630
HP:0000486	Strabismus	51099	ABHD5	ORPHA:98907
HP:0000486	Strabismus	10084	PQBP1	ORPHA:93950
HP:0000486	Strabismus	10084	PQBP1	ORPHA:93945
HP:0000486	Strabismus	10084	PQBP1	OMIM:309500
HP:0000486	Strabismus	55209	SETD5	ORPHA:404440
HP:0000486	Strabismus	55209	SETD5	OMIM:615761
HP:0000486	Strabismus	4125	MAN2B1	ORPHA:309282
HP:0000486	Strabismus	10743	RAI1	ORPHA:477817
HP:0000486	Strabismus	10743	RAI1	ORPHA:819
HP:0000486	Strabismus	197131	UBR1	OMIM:243800
HP:0000486	Strabismus	9578	CDC42BPB	OMIM:619841
HP:0000486	Strabismus	65993	MRPS34	OMIM:617664
HP:0000486	Strabismus	80816	ASXL3	OMIM:615485
HP:0000486	Strabismus	80816	ASXL3	ORPHA:352577
HP:0000486	Strabismus	56997	COQ8A	ORPHA:139485
HP:0000486	Strabismus	56997	COQ8A	OMIM:612016
HP:0000486	Strabismus	283489	CHAMP1	OMIM:616579
HP:0000486	Strabismus	23322	RPGRIP1L	ORPHA:220497
HP:0000486	Strabismus	23322	RPGRIP1L	ORPHA:1454
HP:0000486	Strabismus	23322	RPGRIP1L	OMIM:619113
HP:0000486	Strabismus	4867	NPHP1	ORPHA:220497
HP:0000486	Strabismus	65062	TMEM237	ORPHA:220497
HP:0000486	Strabismus	65062	TMEM237	ORPHA:2318
HP:0000486	Strabismus	65062	TMEM237	ORPHA:475
HP:0000486	Strabismus	65062	TMEM237	OMIM:614424
HP:0000486	Strabismus	27245	AHDC1	ORPHA:412069
HP:0000486	Strabismus	166378	AFG2A	OMIM:616577
HP:0000486	Strabismus	55690	PACS1	OMIM:615009
HP:0000486	Strabismus	54806	AHI1	ORPHA:220493
HP:0000486	Strabismus	54806	AHI1	ORPHA:475
HP:0000486	Strabismus	56623	INPP5E	ORPHA:220493
HP:0000486	Strabismus	56623	INPP5E	OMIM:213300
HP:0000486	Strabismus	56623	INPP5E	ORPHA:1454
HP:0000486	Strabismus	56623	INPP5E	ORPHA:475
HP:0000486	Strabismus	153241	CEP120	ORPHA:220493
HP:0000486	Strabismus	153241	CEP120	ORPHA:475
HP:0000486	Strabismus	153241	CEP120	OMIM:617761
HP:0000486	Strabismus	54903	MKS1	ORPHA:220493
HP:0000486	Strabismus	54903	MKS1	ORPHA:475
HP:0000486	Strabismus	54903	MKS1	OMIM:617121
HP:0000486	Strabismus	95681	CEP41	ORPHA:220493
HP:0000486	Strabismus	95681	CEP41	ORPHA:475
HP:0000486	Strabismus	10686	CLDN16	OMIM:248250
HP:0000486	Strabismus	1161	ERCC8	OMIM:216400
HP:0000486	Strabismus	1161	ERCC8	ORPHA:90324
HP:0000486	Strabismus	1161	ERCC8	ORPHA:90321
HP:0000486	Strabismus	1161	ERCC8	ORPHA:90322
HP:0000486	Strabismus	55636	CHD7	ORPHA:138
HP:0000486	Strabismus	9723	SEMA3E	ORPHA:138
HP:0000486	Strabismus	29957	SLC25A24	ORPHA:2963
HP:0000486	Strabismus	23418	CRB1	ORPHA:35612
HP:0000486	Strabismus	7439	BEST1	ORPHA:35612
HP:0000486	Strabismus	7439	BEST1	OMIM:193220
HP:0000486	Strabismus	26022	TMEM98	ORPHA:35612
HP:0000486	Strabismus	6657	SOX2	ORPHA:35612
HP:0000486	Strabismus	6657	SOX2	ORPHA:3157
HP:0000486	Strabismus	220	ALDH1A3	ORPHA:35612
HP:0000486	Strabismus	646960	PRSS56	ORPHA:35612
HP:0000486	Strabismus	83552	MFRP	ORPHA:35612
HP:0000486	Strabismus	30062	RAX	ORPHA:35612
HP:0000486	Strabismus	5015	OTX2	ORPHA:35612
HP:0000486	Strabismus	5015	OTX2	ORPHA:3157
HP:0000486	Strabismus	4990	SIX6	ORPHA:35612
HP:0000486	Strabismus	6023	RMRP	ORPHA:175
HP:0000486	Strabismus	112802	KRT71	ORPHA:170
HP:0000486	Strabismus	121391	KRT74	ORPHA:170
HP:0000486	Strabismus	200879	LIPH	ORPHA:170
HP:0000486	Strabismus	10161	LPAR6	ORPHA:170
HP:0000486	Strabismus	147183	KRT25	ORPHA:170
HP:0000486	Strabismus	57589	RIC1	OMIM:618761
HP:0000486	Strabismus	317662	FAM149B1	OMIM:618763
HP:0000486	Strabismus	818	CAMK2G	OMIM:618522
HP:0000486	Strabismus	113189	CHST14	ORPHA:2953
HP:0000486	Strabismus	113189	CHST14	OMIM:601776
HP:0000486	Strabismus	29940	DSE	ORPHA:2953
HP:0000486	Strabismus	9968	MED12	ORPHA:93932
HP:0000486	Strabismus	9968	MED12	OMIM:305450
HP:0000486	Strabismus	9968	MED12	OMIM:300895
HP:0000486	Strabismus	7436	VLDLR	OMIM:224050
HP:0000486	Strabismus	7436	VLDLR	ORPHA:1766
HP:0000486	Strabismus	7994	KAT6A	ORPHA:457193
HP:0000486	Strabismus	7994	KAT6A	OMIM:616268
HP:0000486	Strabismus	81857	MED25	ORPHA:464738
HP:0000486	Strabismus	81857	MED25	OMIM:616449
HP:0000486	Strabismus	84100	ARL6	OMIM:209900
HP:0000486	Strabismus	79140	CCDC28B	OMIM:209900
HP:0000486	Strabismus	582	BBS1	OMIM:209900
HP:0000486	Strabismus	2697	GJA1	ORPHA:2710
HP:0000486	Strabismus	1130	LYST	ORPHA:167
HP:0000486	Strabismus	1130	LYST	OMIM:214500
HP:0000486	Strabismus	9401	RECQL4	OMIM:218600
HP:0000486	Strabismus	9401	RECQL4	OMIM:268400
HP:0000486	Strabismus	4330	MN1	OMIM:618774
HP:0000486	Strabismus	5528	PPP2R5D	OMIM:616355
HP:0000486	Strabismus	5528	PPP2R5D	ORPHA:457279
HP:0000486	Strabismus	3340	NDST1	OMIM:616116
HP:0000486	Strabismus	89910	UBE3B	ORPHA:2707
HP:0000486	Strabismus	89910	UBE3B	OMIM:244450
HP:0000486	Strabismus	1499	CTNNB1	ORPHA:404473
HP:0000486	Strabismus	1499	CTNNB1	OMIM:615075
HP:0000486	Strabismus	55768	NGLY1	OMIM:615273
HP:0000486	Strabismus	8493	PPM1D	OMIM:617450
HP:0000486	Strabismus	91574	MTRFR	OMIM:615035
HP:0000486	Strabismus	91574	MTRFR	ORPHA:320375
HP:0000486	Strabismus	91574	MTRFR	OMIM:613559
HP:0000486	Strabismus	23126	POGZ	OMIM:616364
HP:0000486	Strabismus	23126	POGZ	ORPHA:468678
HP:0000486	Strabismus	55773	TBC1D23	OMIM:617695
HP:0000486	Strabismus	23259	DDHD2	OMIM:615033
HP:0000486	Strabismus	23259	DDHD2	ORPHA:320380
HP:0000486	Strabismus	3769	KCNJ13	OMIM:614186
HP:0000486	Strabismus	57167	SALL4	OMIM:147750
HP:0000486	Strabismus	57167	SALL4	ORPHA:2307
HP:0000486	Strabismus	57167	SALL4	ORPHA:233
HP:0000486	Strabismus	57167	SALL4	ORPHA:959
HP:0000486	Strabismus	57167	SALL4	OMIM:607323
HP:0000486	Strabismus	55280	CWF19L1	OMIM:616127
HP:0000486	Strabismus	92609	TIMM50	OMIM:617698
HP:0000486	Strabismus	51692	CPSF3	OMIM:619876
HP:0000486	Strabismus	3098	HK1	OMIM:618547
HP:0000486	Strabismus	5590	PRKCZ	ORPHA:1606
HP:0000486	Strabismus	2563	GABRD	ORPHA:1606
HP:0000486	Strabismus	23013	SPEN	ORPHA:1606
HP:0000486	Strabismus	8510	MMP23B	ORPHA:1606
HP:0000486	Strabismus	7798	LUZP1	ORPHA:1606
HP:0000486	Strabismus	6497	SKI	ORPHA:1606
HP:0000486	Strabismus	6497	SKI	ORPHA:2462
HP:0000486	Strabismus	6497	SKI	OMIM:182212
HP:0000486	Strabismus	10630	PDPN	ORPHA:1606
HP:0000486	Strabismus	3339	HSPG2	ORPHA:1606
HP:0000486	Strabismus	3339	HSPG2	ORPHA:800
HP:0000486	Strabismus	10277	UBE4B	ORPHA:1606
HP:0000486	Strabismus	8514	KCNAB2	ORPHA:1606
HP:0000486	Strabismus	473	RERE	ORPHA:1606
HP:0000486	Strabismus	473	RERE	ORPHA:494344
HP:0000486	Strabismus	473	RERE	OMIM:616975
HP:0000486	Strabismus	63976	PRDM16	ORPHA:1606
HP:0000486	Strabismus	54897	CASZ1	ORPHA:1606
HP:0000486	Strabismus	148789	B3GALNT2	ORPHA:588
HP:0000486	Strabismus	29925	GMPPB	ORPHA:588
HP:0000486	Strabismus	29925	GMPPB	ORPHA:370968
HP:0000486	Strabismus	29925	GMPPB	ORPHA:370959
HP:0000486	Strabismus	29925	GMPPB	OMIM:615351
HP:0000486	Strabismus	79147	FKRP	ORPHA:588
HP:0000486	Strabismus	79147	FKRP	ORPHA:370968
HP:0000486	Strabismus	79147	FKRP	ORPHA:370959
HP:0000486	Strabismus	9215	LARGE1	ORPHA:588
HP:0000486	Strabismus	9215	LARGE1	ORPHA:370968
HP:0000486	Strabismus	29954	POMT2	ORPHA:588
HP:0000486	Strabismus	29954	POMT2	ORPHA:370968
HP:0000486	Strabismus	29954	POMT2	ORPHA:370959
HP:0000486	Strabismus	29954	POMT2	OMIM:613156
HP:0000486	Strabismus	2218	FKTN	ORPHA:588
HP:0000486	Strabismus	2218	FKTN	OMIM:253800
HP:0000486	Strabismus	55624	POMGNT1	ORPHA:588
HP:0000486	Strabismus	55624	POMGNT1	ORPHA:370959
HP:0000486	Strabismus	55624	POMGNT1	OMIM:253280
HP:0000486	Strabismus	55624	POMGNT1	OMIM:613151
HP:0000486	Strabismus	10585	POMT1	ORPHA:588
HP:0000486	Strabismus	10585	POMT1	ORPHA:370968
HP:0000486	Strabismus	10585	POMT1	ORPHA:370959
HP:0000486	Strabismus	1859	DYRK1A	ORPHA:464311
HP:0000486	Strabismus	1859	DYRK1A	ORPHA:268261
HP:0000486	Strabismus	9289	ADGRG1	ORPHA:101070
HP:0000486	Strabismus	5728	PTEN	ORPHA:101070
HP:0000486	Strabismus	5728	PTEN	ORPHA:744
HP:0000486	Strabismus	472	ATM	ORPHA:100
HP:0000486	Strabismus	472	ATM	OMIM:208900
HP:0000486	Strabismus	79718	TBL1XR1	OMIM:602342
HP:0000486	Strabismus	79718	TBL1XR1	ORPHA:487825
HP:0000486	Strabismus	5605	MAP2K2	OMIM:615280
HP:0000486	Strabismus	5605	MAP2K2	ORPHA:1340
HP:0000486	Strabismus	4644	MYO5A	ORPHA:33445
HP:0000486	Strabismus	54828	BCAS3	OMIM:619641
HP:0000486	Strabismus	6305	SBF1	OMIM:615284
HP:0000486	Strabismus	8818	DPM2	OMIM:615042
HP:0000486	Strabismus	8818	DPM2	ORPHA:329178
HP:0000486	Strabismus	3913	LAMB2	OMIM:614199
HP:0000486	Strabismus	56098	PCDHGC4	OMIM:619880
HP:0000486	Strabismus	113179	ADAT3	OMIM:615286
HP:0000486	Strabismus	113179	ADAT3	ORPHA:363528
HP:0000486	Strabismus	1742	DLG4	OMIM:618793
HP:0000486	Strabismus	163175	LGI4	OMIM:617468
HP:0000486	Strabismus	200424	TET3	OMIM:618798
HP:0000486	Strabismus	9772	TMEM94	OMIM:618316
HP:0000486	Strabismus	57192	MCOLN1	ORPHA:578
HP:0000486	Strabismus	57192	MCOLN1	OMIM:252650
HP:0000486	Strabismus	10667	FARS2	ORPHA:466722
HP:0000486	Strabismus	4208	MEF2C	ORPHA:228384
HP:0000486	Strabismus	5727	PTCH1	ORPHA:377
HP:0000486	Strabismus	5727	PTCH1	OMIM:109400
HP:0000486	Strabismus	5727	PTCH1	ORPHA:280200
HP:0000486	Strabismus	5727	PTCH1	ORPHA:77301
HP:0000486	Strabismus	8643	PTCH2	ORPHA:377
HP:0000486	Strabismus	51684	SUFU	ORPHA:377
HP:0000486	Strabismus	51684	SUFU	ORPHA:280200
HP:0000486	Strabismus	51684	SUFU	ORPHA:475
HP:0000486	Strabismus	6843	VAMP1	OMIM:618323
HP:0000486	Strabismus	197258	FCSK	OMIM:618324
HP:0000486	Strabismus	345193	LRIT3	OMIM:615058
HP:0000486	Strabismus	345193	LRIT3	ORPHA:215
HP:0000486	Strabismus	84168	ANTXR1	OMIM:230740
HP:0000486	Strabismus	25836	NIPBL	OMIM:122470
HP:0000486	Strabismus	25836	NIPBL	ORPHA:199
HP:0000486	Strabismus	23499	MACF1	OMIM:618325
HP:0000486	Strabismus	23499	MACF1	ORPHA:572013
HP:0000486	Strabismus	51322	WAC	ORPHA:466950
HP:0000486	Strabismus	51322	WAC	ORPHA:284169
HP:0000486	Strabismus	51322	WAC	OMIM:616708
HP:0000486	Strabismus	2778	GNAS	ORPHA:79443
HP:0000486	Strabismus	6135	RPL11	ORPHA:124
HP:0000486	Strabismus	6138	RPL15	ORPHA:124
HP:0000486	Strabismus	6229	RPS24	ORPHA:124
HP:0000486	Strabismus	6125	RPL5	ORPHA:124
HP:0000486	Strabismus	6204	RPS10	ORPHA:124
HP:0000486	Strabismus	6224	RPS20	ORPHA:124
HP:0000486	Strabismus	6165	RPL35A	ORPHA:124
HP:0000486	Strabismus	2623	GATA1	ORPHA:124
HP:0000486	Strabismus	6223	RPS19	ORPHA:124
HP:0000486	Strabismus	6223	RPS19	OMIM:105650
HP:0000486	Strabismus	6232	RPS27	ORPHA:124
HP:0000486	Strabismus	6231	RPS26	ORPHA:124
HP:0000486	Strabismus	11224	RPL35	ORPHA:124
HP:0000486	Strabismus	6160	RPL31	ORPHA:124
HP:0000486	Strabismus	6218	RPS17	ORPHA:124
HP:0000486	Strabismus	6201	RPS7	ORPHA:124
HP:0000486	Strabismus	6155	RPL27	ORPHA:124
HP:0000486	Strabismus	6154	RPL26	ORPHA:124
HP:0000486	Strabismus	6210	RPS15A	ORPHA:124
HP:0000486	Strabismus	90121	TSR2	ORPHA:124
HP:0000486	Strabismus	6141	RPL18	ORPHA:124
HP:0000486	Strabismus	6235	RPS29	ORPHA:124
HP:0000486	Strabismus	6234	RPS28	ORPHA:124
HP:0000486	Strabismus	51816	ADA2	ORPHA:124
HP:0000486	Strabismus	257	ALX3	ORPHA:391474
HP:0000486	Strabismus	117581	TWIST2	ORPHA:1807
HP:0000486	Strabismus	2629	GBA1	ORPHA:77261
HP:0000486	Strabismus	2629	GBA1	ORPHA:77260
HP:0000486	Strabismus	2629	GBA1	ORPHA:2072
HP:0000486	Strabismus	2629	GBA1	OMIM:230900
HP:0000486	Strabismus	2629	GBA1	OMIM:608013
HP:0000486	Strabismus	2629	GBA1	OMIM:231005
HP:0000486	Strabismus	2629	GBA1	OMIM:231000
HP:0000486	Strabismus	1387	CREBBP	OMIM:618332
HP:0000486	Strabismus	1387	CREBBP	OMIM:180849
HP:0000486	Strabismus	1387	CREBBP	ORPHA:353277
HP:0000486	Strabismus	2033	EP300	OMIM:618333
HP:0000486	Strabismus	2033	EP300	OMIM:613684
HP:0000486	Strabismus	2033	EP300	ORPHA:353284
HP:0000486	Strabismus	2033	EP300	OMIM:180849
HP:0000486	Strabismus	10533	ATG7	OMIM:619422
HP:0000486	Strabismus	60529	ALX4	ORPHA:228390
HP:0000486	Strabismus	60529	ALX4	OMIM:613451
HP:0000486	Strabismus	60529	ALX4	ORPHA:52022
HP:0000486	Strabismus	26173	INTS1	OMIM:618571
HP:0000486	Strabismus	120	ADD3	OMIM:617008
HP:0000486	Strabismus	5813	PURA	OMIM:616158
HP:0000486	Strabismus	7306	TYRP1	ORPHA:79433
HP:0000486	Strabismus	7306	TYRP1	OMIM:203290
HP:0000486	Strabismus	7291	TWIST1	ORPHA:794
HP:0000486	Strabismus	7291	TWIST1	OMIM:180750
HP:0000486	Strabismus	7291	TWIST1	OMIM:101400
HP:0000486	Strabismus	2263	FGFR2	ORPHA:794
HP:0000486	Strabismus	2263	FGFR2	OMIM:123500
HP:0000486	Strabismus	2263	FGFR2	ORPHA:87
HP:0000486	Strabismus	2263	FGFR2	OMIM:101400
HP:0000486	Strabismus	2263	FGFR2	OMIM:101200
HP:0000486	Strabismus	2263	FGFR2	ORPHA:207
HP:0000486	Strabismus	2263	FGFR2	OMIM:101600
HP:0000486	Strabismus	2263	FGFR2	ORPHA:1540
HP:0000486	Strabismus	2261	FGFR3	ORPHA:794
HP:0000486	Strabismus	2261	FGFR3	ORPHA:93262
HP:0000486	Strabismus	2261	FGFR3	OMIM:602849
HP:0000486	Strabismus	9949	AMMECR1	OMIM:300990
HP:0000486	Strabismus	9949	AMMECR1	ORPHA:86818
HP:0000486	Strabismus	2074	ERCC6	OMIM:133540
HP:0000486	Strabismus	2074	ERCC6	ORPHA:90324
HP:0000486	Strabismus	2074	ERCC6	ORPHA:90321
HP:0000486	Strabismus	2074	ERCC6	ORPHA:90322
HP:0000486	Strabismus	2074	ERCC6	OMIM:278800
HP:0000486	Strabismus	22827	PUF60	ORPHA:508498
HP:0000486	Strabismus	22827	PUF60	ORPHA:508488
HP:0000486	Strabismus	51574	LARP7	OMIM:615071
HP:0000486	Strabismus	51574	LARP7	ORPHA:319671
HP:0000486	Strabismus	57459	GATAD2B	OMIM:615074
HP:0000486	Strabismus	57459	GATAD2B	ORPHA:363686
HP:0000486	Strabismus	56896	DPYSL5	OMIM:619435
HP:0000486	Strabismus	10765	KDM5B	OMIM:618109
HP:0000486	Strabismus	8573	CASK	OMIM:300749
HP:0000486	Strabismus	8573	CASK	ORPHA:163937
HP:0000486	Strabismus	8573	CASK	ORPHA:1934
HP:0000486	Strabismus	6418	SET	OMIM:618106
HP:0000486	Strabismus	55746	NUP133	OMIM:618349
HP:0000486	Strabismus	9526	MPDU1	OMIM:609180
HP:0000486	Strabismus	50814	NSDHL	ORPHA:251383
HP:0000486	Strabismus	50814	NSDHL	OMIM:300831
HP:0000486	Strabismus	7681	MKRN3	OMIM:176270
HP:0000486	Strabismus	3653	IPW	OMIM:176270
HP:0000486	Strabismus	54551	MAGEL2	OMIM:176270
HP:0000486	Strabismus	54551	MAGEL2	ORPHA:398069
HP:0000486	Strabismus	54551	MAGEL2	ORPHA:98754
HP:0000486	Strabismus	54551	MAGEL2	ORPHA:177904
HP:0000486	Strabismus	54551	MAGEL2	ORPHA:177901
HP:0000486	Strabismus	791114	PWRN1	OMIM:176270
HP:0000486	Strabismus	100033413	SNORD116-1	OMIM:176270
HP:0000486	Strabismus	8924	HERC2	OMIM:176270
HP:0000486	Strabismus	8924	HERC2	OMIM:615516
HP:0000486	Strabismus	145624	PWAR1	OMIM:176270
HP:0000486	Strabismus	23742	NPAP1	OMIM:176270
HP:0000486	Strabismus	338433	SNORD115-1	OMIM:176270
HP:0000486	Strabismus	128869	PIGU	OMIM:618590
HP:0000486	Strabismus	27125	AFF4	ORPHA:444077
HP:0000486	Strabismus	2972	BRF1	ORPHA:444072
HP:0000486	Strabismus	2972	BRF1	OMIM:616202
HP:0000486	Strabismus	11277	TREX1	OMIM:225750
HP:0000486	Strabismus	116461	TSEN15	OMIM:617026
HP:0000486	Strabismus	57520	HECW2	OMIM:617268
HP:0000486	Strabismus	8492	PRSS12	OMIM:249500
HP:0000486	Strabismus	6492	SIM1	ORPHA:171829
HP:0000486	Strabismus	6492	SIM1	ORPHA:398079
HP:0000486	Strabismus	4952	OCRL	ORPHA:534
HP:0000486	Strabismus	7337	UBE3A	ORPHA:98794
HP:0000486	Strabismus	7337	UBE3A	ORPHA:411511
HP:0000486	Strabismus	7337	UBE3A	OMIM:105830
HP:0000486	Strabismus	4948	OCA2	ORPHA:98794
HP:0000486	Strabismus	4948	OCA2	ORPHA:98754
HP:0000486	Strabismus	4948	OCA2	ORPHA:177904
HP:0000486	Strabismus	4948	OCA2	ORPHA:177901
HP:0000486	Strabismus	4948	OCA2	OMIM:203200
HP:0000486	Strabismus	5934	RBL2	OMIM:619690
HP:0000486	Strabismus	5980	REV3L	ORPHA:570
HP:0000486	Strabismus	23129	PLXND1	ORPHA:570
HP:0000486	Strabismus	347733	TUBB2B	ORPHA:467166
HP:0000486	Strabismus	347733	TUBB2B	ORPHA:1766
HP:0000486	Strabismus	347733	TUBB2B	ORPHA:300573
HP:0000486	Strabismus	7846	TUBA1A	ORPHA:467166
HP:0000486	Strabismus	7846	TUBA1A	ORPHA:171680
HP:0000486	Strabismus	10381	TUBB3	ORPHA:467166
HP:0000486	Strabismus	10381	TUBB3	OMIM:614039
HP:0000486	Strabismus	10381	TUBB3	ORPHA:300570
HP:0000486	Strabismus	8888	MCM3AP	OMIM:618124
HP:0000486	Strabismus	51434	ANAPC7	OMIM:619699
HP:0000486	Strabismus	4998	ORC1	OMIM:224690
HP:0000486	Strabismus	5308	PITX2	OMIM:180500
HP:0000486	Strabismus	5308	PITX2	ORPHA:708
HP:0000486	Strabismus	1312	COMT	ORPHA:567
HP:0000486	Strabismus	221037	JMJD1C	ORPHA:567
HP:0000486	Strabismus	2812	GP1BB	ORPHA:567
HP:0000486	Strabismus	6239	RREB1	ORPHA:567
HP:0000486	Strabismus	6899	TBX1	ORPHA:567
HP:0000486	Strabismus	7290	HIRA	ORPHA:567
HP:0000486	Strabismus	9632	SEC24C	ORPHA:567
HP:0000486	Strabismus	7353	UFD1	ORPHA:567
HP:0000486	Strabismus	421	ARVCF	ORPHA:567
HP:0000486	Strabismus	1009	CDH11	OMIM:211380
HP:0000486	Strabismus	1009	CDH11	ORPHA:1299
HP:0000486	Strabismus	3858	KRT10	OMIM:609165
HP:0000486	Strabismus	6045	RNF2	OMIM:619460
HP:0000486	Strabismus	2068	ERCC2	OMIM:601675
HP:0000486	Strabismus	2068	ERCC2	ORPHA:33364
HP:0000486	Strabismus	2068	ERCC2	ORPHA:910
HP:0000486	Strabismus	1301	COL11A1	ORPHA:560
HP:0000486	Strabismus	7086	TKT	OMIM:617044
HP:0000486	Strabismus	164	AP1G1	OMIM:619467
HP:0000486	Strabismus	9757	KMT2B	OMIM:617284
HP:0000486	Strabismus	9757	KMT2B	ORPHA:589618
HP:0000486	Strabismus	9757	KMT2B	OMIM:619934
HP:0000486	Strabismus	9758	FRMPD4	OMIM:300983
HP:0000486	Strabismus	8802	SUCLG1	ORPHA:17
HP:0000486	Strabismus	64374	SIL1	ORPHA:559
HP:0000486	Strabismus	64374	SIL1	OMIM:248800
HP:0000486	Strabismus	51763	INPP5K	ORPHA:559
HP:0000486	Strabismus	51763	INPP5K	OMIM:617404
HP:0000486	Strabismus	4763	NF1	ORPHA:97685
HP:0000486	Strabismus	84065	TMEM222	OMIM:619470
HP:0000486	Strabismus	9321	TRIP11	ORPHA:166272
HP:0000486	Strabismus	83480	PUS3	OMIM:617051
HP:0000486	Strabismus	83480	PUS3	ORPHA:488627
HP:0000486	Strabismus	9851	KIAA0753	OMIM:619476
HP:0000486	Strabismus	57498	KIDINS220	OMIM:617296
HP:0000486	Strabismus	57187	THOC2	OMIM:300957
HP:0000486	Strabismus	57187	THOC2	ORPHA:457240
HP:0000486	Strabismus	64840	PORCN	ORPHA:2092
HP:0000486	Strabismus	64840	PORCN	OMIM:305600
HP:0000486	Strabismus	54539	NDUFB11	OMIM:300952
HP:0000486	Strabismus	54539	NDUFB11	ORPHA:2609
HP:0000486	Strabismus	6711	SPTBN1	OMIM:619475
HP:0000486	Strabismus	80036	TRPM3	OMIM:620224
HP:0000486	Strabismus	57010	CABP4	OMIM:610427
HP:0000486	Strabismus	57010	CABP4	ORPHA:215
HP:0000486	Strabismus	63895	PIEZO2	OMIM:108145
HP:0000486	Strabismus	63895	PIEZO2	OMIM:248700
HP:0000486	Strabismus	207	AKT1	ORPHA:744
HP:0000486	Strabismus	11198	SUPT16H	OMIM:619480
HP:0000486	Strabismus	283446	MYO1H	OMIM:619482
HP:0000486	Strabismus	84197	POMK	ORPHA:370959
HP:0000486	Strabismus	6872	TAF1	OMIM:300966
HP:0000486	Strabismus	6872	TAF1	ORPHA:480907
HP:0000486	Strabismus	8567	MADD	OMIM:619004
HP:0000486	Strabismus	4841	NONO	OMIM:300967
HP:0000486	Strabismus	4841	NONO	ORPHA:466791
HP:0000486	Strabismus	8239	USP9X	OMIM:300968
HP:0000486	Strabismus	8239	USP9X	ORPHA:480880
HP:0000486	Strabismus	8318	CDC45	OMIM:617063
HP:0000486	Strabismus	57477	SHROOM4	ORPHA:85288
HP:0000486	Strabismus	9508	ADAMTS3	OMIM:618154
HP:0000486	Strabismus	1654	DDX3X	OMIM:300958
HP:0000486	Strabismus	3419	IDH3A	OMIM:619007
HP:0000486	Strabismus	23096	IQSEC2	OMIM:309530
HP:0000486	Strabismus	23096	IQSEC2	ORPHA:819
HP:0000486	Strabismus	23096	IQSEC2	ORPHA:397933
HP:0000486	Strabismus	55717	WDR11	OMIM:620237
HP:0000486	Strabismus	3516	RBPJ	ORPHA:974
HP:0000486	Strabismus	4851	NOTCH1	ORPHA:974
HP:0000486	Strabismus	57514	ARHGAP31	ORPHA:974
HP:0000486	Strabismus	57572	DOCK6	ORPHA:974
HP:0000486	Strabismus	57572	DOCK6	OMIM:614219
HP:0000486	Strabismus	285203	EOGT	ORPHA:974
HP:0000486	Strabismus	54567	DLL4	ORPHA:974
HP:0000486	Strabismus	673	BRAF	OMIM:613706
HP:0000486	Strabismus	673	BRAF	OMIM:115150
HP:0000486	Strabismus	673	BRAF	ORPHA:1340
HP:0000486	Strabismus	80267	EDEM3	OMIM:619493
HP:0000486	Strabismus	6748	SSR4	ORPHA:370927
HP:0000486	Strabismus	6748	SSR4	OMIM:300934
HP:0000486	Strabismus	6720	SREBF1	OMIM:619016
HP:0000486	Strabismus	10479	SLC9A6	ORPHA:85278
HP:0000486	Strabismus	10479	SLC9A6	OMIM:300243
HP:0000486	Strabismus	8242	KDM5C	ORPHA:85279
HP:0000486	Strabismus	8242	KDM5C	OMIM:300534
HP:0000486	Strabismus	89970	RSPRY1	ORPHA:457395
HP:0000486	Strabismus	89970	RSPRY1	OMIM:616723
HP:0000486	Strabismus	51594	NBAS	OMIM:614800
HP:0000486	Strabismus	8831	SYNGAP1	OMIM:612621
HP:0000486	Strabismus	54187	NANS	OMIM:610442
HP:0000486	Strabismus	284058	KANSL1	OMIM:610443
HP:0000486	Strabismus	284058	KANSL1	ORPHA:363958
HP:0000486	Strabismus	284058	KANSL1	ORPHA:363965
HP:0000486	Strabismus	11043	MID2	OMIM:300928
HP:0000486	Strabismus	10079	ATP9A	OMIM:620242
HP:0000486	Strabismus	2801	GOLGA2	OMIM:620240
HP:0000486	Strabismus	54936	ADPRS	OMIM:618170
HP:0000486	Strabismus	1513	CTSK	ORPHA:763
HP:0000486	Strabismus	55181	SMG8	OMIM:619268
HP:0000486	Strabismus	55294	FBXW7	OMIM:620012
HP:0000486	Strabismus	2260	FGFR1	ORPHA:3157
HP:0000486	Strabismus	2260	FGFR1	ORPHA:280200
HP:0000486	Strabismus	2260	FGFR1	OMIM:101600
HP:0000486	Strabismus	128674	PROKR2	ORPHA:3157
HP:0000486	Strabismus	6658	SOX3	ORPHA:3157
HP:0000486	Strabismus	9915	ARNT2	ORPHA:3157
HP:0000486	Strabismus	8820	HESX1	ORPHA:3157
HP:0000486	Strabismus	8085	KMT2D	OMIM:147920
HP:0000486	Strabismus	8085	KMT2D	ORPHA:2322
HP:0000486	Strabismus	7403	KDM6A	OMIM:147920
HP:0000486	Strabismus	7403	KDM6A	ORPHA:2322
HP:0000486	Strabismus	7403	KDM6A	OMIM:300867
HP:0000486	Strabismus	6095	RORA	OMIM:618060
HP:0000486	Strabismus	1183	CLCN4	OMIM:300114
HP:0000486	Strabismus	1183	CLCN4	ORPHA:485350
HP:0000486	Strabismus	23241	PACS2	OMIM:618067
HP:0000486	Strabismus	7355	SLC35A2	ORPHA:356961
HP:0000486	Strabismus	84282	RNF135	ORPHA:137634
HP:0000486	Strabismus	57539	WDR35	OMIM:613610
HP:0000486	Strabismus	123263	MTFMT	OMIM:614947
HP:0000486	Strabismus	123263	MTFMT	ORPHA:255241
HP:0000486	Strabismus	9839	ZEB2	OMIM:235730
HP:0000486	Strabismus	9839	ZEB2	ORPHA:261552
HP:0000486	Strabismus	9839	ZEB2	ORPHA:261537
HP:0000486	Strabismus	64324	NSD1	ORPHA:821
HP:0000486	Strabismus	64324	NSD1	OMIM:117550
HP:0000486	Strabismus	29072	SETD2	ORPHA:821
HP:0000486	Strabismus	10297	APC2	ORPHA:821
HP:0000486	Strabismus	10093	ARPC4	OMIM:620141
HP:0000486	Strabismus	9241	NOG	ORPHA:3250
HP:0000486	Strabismus	9241	NOG	OMIM:186500
HP:0000486	Strabismus	8200	GDF5	ORPHA:3250
HP:0000486	Strabismus	80232	WDR26	ORPHA:513456
HP:0000486	Strabismus	80232	WDR26	OMIM:617616
HP:0000486	Strabismus	146167	SLC38A8	OMIM:609218
HP:0000486	Strabismus	1278	COL1A2	ORPHA:230851
HP:0000486	Strabismus	4010	LMX1B	ORPHA:495818
HP:0000486	Strabismus	6812	STXBP1	ORPHA:495818
HP:0000486	Strabismus	2314	FLII	ORPHA:819
HP:0000486	Strabismus	10522	DEAF1	ORPHA:819
HP:0000486	Strabismus	169522	KCNV2	OMIM:610356
HP:0000486	Strabismus	1717	DHCR7	ORPHA:818
HP:0000486	Strabismus	1717	DHCR7	OMIM:270400
HP:0000486	Strabismus	55780	ERMARD	ORPHA:75857
HP:0000486	Strabismus	55780	ERMARD	OMIM:615544
HP:0000486	Strabismus	10978	CLP1	OMIM:615803
HP:0000486	Strabismus	10978	CLP1	ORPHA:411493
HP:0000486	Strabismus	5979	RET	ORPHA:99803
HP:0000486	Strabismus	429	ASCL1	ORPHA:99803
HP:0000486	Strabismus	8929	PHOX2B	ORPHA:99803
HP:0000486	Strabismus	10225	CD96	OMIM:211750
HP:0000486	Strabismus	10225	CD96	ORPHA:1308
HP:0000486	Strabismus	271	AMPD2	OMIM:615809
HP:0000486	Strabismus	63915	BLOC1S5	OMIM:619172
HP:0000486	Strabismus	56992	KIF15	ORPHA:261323
HP:0000486	Strabismus	8913	CACNA1G	OMIM:618087
HP:0000486	Strabismus	8913	CACNA1G	ORPHA:458803
HP:0000486	Strabismus	80204	FBXO11	OMIM:618089
HP:0000486	Strabismus	1716	DGUOK	ORPHA:329314
HP:0000486	Strabismus	23325	WASHC4	OMIM:615817
HP:0000486	Strabismus	672	BRCA1	ORPHA:84
HP:0000486	Strabismus	10459	MAD2L2	ORPHA:84
HP:0000486	Strabismus	7516	XRCC2	ORPHA:84
HP:0000486	Strabismus	29089	UBE2T	ORPHA:84
HP:0000486	Strabismus	675	BRCA2	ORPHA:84
HP:0000486	Strabismus	55120	FANCL	ORPHA:84
HP:0000486	Strabismus	2177	FANCD2	ORPHA:84
HP:0000486	Strabismus	2177	FANCD2	OMIM:227646
HP:0000486	Strabismus	2175	FANCA	ORPHA:84
HP:0000486	Strabismus	2175	FANCA	OMIM:227650
HP:0000486	Strabismus	2187	FANCB	ORPHA:84
HP:0000486	Strabismus	2176	FANCC	ORPHA:84
HP:0000486	Strabismus	2176	FANCC	OMIM:227645
HP:0000486	Strabismus	2178	FANCE	ORPHA:84
HP:0000486	Strabismus	2178	FANCE	OMIM:600901
HP:0000486	Strabismus	2188	FANCF	ORPHA:84
HP:0000486	Strabismus	2189	FANCG	ORPHA:84
HP:0000486	Strabismus	5888	RAD51	ORPHA:84
HP:0000486	Strabismus	5889	RAD51C	ORPHA:84
HP:0000486	Strabismus	55159	RFWD3	ORPHA:84
HP:0000486	Strabismus	83990	BRIP1	ORPHA:84
HP:0000486	Strabismus	57697	FANCM	ORPHA:84
HP:0000486	Strabismus	79728	PALB2	ORPHA:84
HP:0000486	Strabismus	84464	SLX4	ORPHA:84
HP:0000486	Strabismus	2072	ERCC4	ORPHA:84
HP:0000486	Strabismus	2072	ERCC4	ORPHA:90321
HP:0000486	Strabismus	2072	ERCC4	ORPHA:910
HP:0000486	Strabismus	55215	FANCI	ORPHA:84
HP:0000486	Strabismus	222663	SCUBE3	OMIM:619184
HP:0000486	Strabismus	23400	ATP13A2	ORPHA:513436
HP:0000486	Strabismus	79152	FA2H	ORPHA:329308
HP:0000486	Strabismus	79152	FA2H	OMIM:612319
HP:0000486	Strabismus	6999	TDO2	OMIM:600627
HP:0000486	Strabismus	23036	ZNF292	OMIM:619188
HP:0000486	Strabismus	6885	MAP3K7	OMIM:157800
HP:0000486	Strabismus	7020	TFAP2A	ORPHA:1297
HP:0000486	Strabismus	7020	TFAP2A	OMIM:113620
HP:0000486	Strabismus	11160	ERLIN2	OMIM:611225
HP:0000486	Strabismus	83879	CDCA7	OMIM:616910
HP:0000486	Strabismus	25942	SIN3A	OMIM:613406
HP:0000486	Strabismus	25942	SIN3A	ORPHA:94065
HP:0000486	Strabismus	53834	FGFRL1	OMIM:194190
HP:0000486	Strabismus	1487	CTBP1	OMIM:194190
HP:0000486	Strabismus	1487	CTBP1	ORPHA:280
HP:0000486	Strabismus	3954	LETM1	OMIM:194190
HP:0000486	Strabismus	3954	LETM1	ORPHA:280
HP:0000486	Strabismus	7468	NSD2	OMIM:194190
HP:0000486	Strabismus	7468	NSD2	ORPHA:280
HP:0000486	Strabismus	10815	CPLX1	OMIM:194190
HP:0000486	Strabismus	10815	CPLX1	ORPHA:280
HP:0000486	Strabismus	10815	CPLX1	OMIM:617976
HP:0000486	Strabismus	9487	PIGL	ORPHA:3474
HP:0000486	Strabismus	9487	PIGL	OMIM:280000
HP:0000486	Strabismus	54496	PRMT7	ORPHA:464288
HP:0000486	Strabismus	54496	PRMT7	OMIM:617157
HP:0000486	Strabismus	165	AEBP1	ORPHA:536532
HP:0000486	Strabismus	3192	HNRNPU	ORPHA:238769
HP:0000486	Strabismus	1798	DPAGT1	ORPHA:86309
HP:0000486	Strabismus	7025	NR2F1	ORPHA:401777
HP:0000486	Strabismus	7025	NR2F1	OMIM:615722
HP:0000486	Strabismus	51114	ZDHHC9	OMIM:300799
HP:0000486	Strabismus	116442	RAB39B	ORPHA:2379
HP:0000486	Strabismus	23533	PIK3R5	ORPHA:64753
HP:0000486	Strabismus	23064	SETX	ORPHA:64753
HP:0000486	Strabismus	23064	SETX	OMIM:606002
HP:0000486	Strabismus	10908	PNPLA6	ORPHA:2377
HP:0000486	Strabismus	26053	AUTS2	OMIM:615834
HP:0000486	Strabismus	26053	AUTS2	ORPHA:352490
HP:0000486	Strabismus	79753	SNIP1	OMIM:614501
HP:0000486	Strabismus	1650	DDOST	OMIM:614507
HP:0000486	Strabismus	23345	SYNE1	ORPHA:319332
HP:0000486	Strabismus	23345	SYNE1	ORPHA:88644
HP:0000486	Strabismus	23345	SYNE1	OMIM:610743
HP:0000486	Strabismus	23345	SYNE1	OMIM:618484
HP:0000486	Strabismus	54499	TMCO1	OMIM:213980
HP:0000486	Strabismus	54499	TMCO1	ORPHA:1394
HP:0000486	Strabismus	2259	FGF14	ORPHA:98764
HP:0000486	Strabismus	2259	FGF14	OMIM:193003
HP:0000486	Strabismus	492	ATP2B3	OMIM:302500
HP:0000486	Strabismus	492	ATP2B3	ORPHA:314978
HP:0000486	Strabismus	4784	NFIX	OMIM:614753
HP:0000486	Strabismus	4784	NFIX	ORPHA:420179
HP:0000486	Strabismus	440138	ALG11	OMIM:613661
HP:0000486	Strabismus	440138	ALG11	ORPHA:280071
HP:0000486	Strabismus	182	JAG1	OMIM:118450
HP:0000486	Strabismus	55906	ZC4H2	ORPHA:3454
HP:0000486	Strabismus	6638	SNRPN	ORPHA:98754
HP:0000486	Strabismus	6638	SNRPN	ORPHA:177904
HP:0000486	Strabismus	6638	SNRPN	ORPHA:177901
HP:0000486	Strabismus	6638	SNRPN	ORPHA:177907
HP:0000486	Strabismus	6638	SNRPN	OMIM:105830
HP:0000486	Strabismus	4692	NDN	ORPHA:98754
HP:0000486	Strabismus	4692	NDN	ORPHA:177904
HP:0000486	Strabismus	4692	NDN	ORPHA:177901
HP:0000486	Strabismus	8813	DPM1	OMIM:608799
HP:0000486	Strabismus	8813	DPM1	ORPHA:79322
HP:0000486	Strabismus	55670	PEX26	ORPHA:44
HP:0000486	Strabismus	5824	PEX19	ORPHA:44
HP:0000486	Strabismus	5828	PEX2	ORPHA:44
HP:0000486	Strabismus	8504	PEX3	ORPHA:44
HP:0000486	Strabismus	9409	PEX16	ORPHA:44
HP:0000486	Strabismus	5190	PEX6	ORPHA:44
HP:0000486	Strabismus	8799	PEX11B	ORPHA:44
HP:0000486	Strabismus	5830	PEX5	ORPHA:44
HP:0000486	Strabismus	5189	PEX1	ORPHA:44
HP:0000486	Strabismus	5193	PEX12	ORPHA:44
HP:0000486	Strabismus	5194	PEX13	ORPHA:44
HP:0000486	Strabismus	5195	PEX14	ORPHA:44
HP:0000486	Strabismus	5192	PEX10	ORPHA:44
HP:0000486	Strabismus	55084	SOBP	OMIM:613671
HP:0000486	Strabismus	6949	TCOF1	OMIM:154500
HP:0000486	Strabismus	6949	TCOF1	ORPHA:861
HP:0000486	Strabismus	27086	FOXP1	OMIM:613670
HP:0000486	Strabismus	27086	FOXP1	ORPHA:391372
HP:0000486	Strabismus	340024	SLC6A19	ORPHA:2116
HP:0000486	Strabismus	57393	CLTRN	ORPHA:2116
HP:0000486	Strabismus	55275	VPS53	OMIM:615851
HP:0000486	Strabismus	2146	EZH2	OMIM:277590
HP:0000486	Strabismus	64116	SLC39A8	ORPHA:468699
HP:0000486	Strabismus	64116	SLC39A8	OMIM:616721
HP:0000486	Strabismus	2776	GNAQ	ORPHA:3205
HP:0000486	Strabismus	8943	AP3D1	ORPHA:54
HP:0000486	Strabismus	8943	AP3D1	ORPHA:1000
HP:0000486	Strabismus	4935	GPR143	ORPHA:54
HP:0000486	Strabismus	171023	ASXL1	OMIM:605039
HP:0000486	Strabismus	55023	PHIP	ORPHA:589905
HP:0000486	Strabismus	55023	PHIP	OMIM:617991
HP:0000486	Strabismus	2316	FLNA	OMIM:309350
HP:0000486	Strabismus	2316	FLNA	OMIM:300049
HP:0000486	Strabismus	51134	CEP83	OMIM:615862
HP:0000486	Strabismus	22907	DHX30	OMIM:617804
HP:0000486	Strabismus	9990	SLC12A6	ORPHA:1496
HP:0000486	Strabismus	7319	UBE2A	ORPHA:163956
HP:0000486	Strabismus	57165	GJC2	OMIM:613206
HP:0000486	Strabismus	57165	GJC2	ORPHA:320401
HP:0000486	Strabismus	339453	TMEM240	OMIM:607454
HP:0000486	Strabismus	9230	RAB11B	OMIM:617807
HP:0000486	Strabismus	7490	WT1	OMIM:106210
HP:0000486	Strabismus	5080	PAX6	OMIM:106210
HP:0000486	Strabismus	5080	PAX6	ORPHA:35737
HP:0000486	Strabismus	5080	PAX6	ORPHA:708
HP:0000486	Strabismus	5080	PAX6	ORPHA:2253
HP:0000486	Strabismus	5080	PAX6	OMIM:604229
HP:0000486	Strabismus	10075	HUWE1	OMIM:309590
HP:0000486	Strabismus	6513	SLC2A1	ORPHA:71277
HP:0000486	Strabismus	2245	FGD1	OMIM:305400
HP:0000486	Strabismus	2245	FGD1	ORPHA:915
HP:0000486	Strabismus	124997	WDR81	OMIM:610185
HP:0000486	Strabismus	124997	WDR81	ORPHA:1766
HP:0000486	Strabismus	79848	CSPP1	OMIM:615636
HP:0000486	Strabismus	79848	CSPP1	ORPHA:475
HP:0000486	Strabismus	29123	ANKRD11	ORPHA:2332
HP:0000486	Strabismus	29123	ANKRD11	ORPHA:261250
HP:0000486	Strabismus	6334	SCN8A	OMIM:614306
HP:0000486	Strabismus	4308	TRPM1	OMIM:613216
HP:0000486	Strabismus	4308	TRPM1	ORPHA:215
HP:0000486	Strabismus	10586	MAB21L2	OMIM:615877
HP:0000486	Strabismus	23028	KDM1A	OMIM:616728
HP:0000486	Strabismus	23028	KDM1A	ORPHA:477993
HP:0000486	Strabismus	4693	NDP	ORPHA:91495
HP:0000486	Strabismus	4693	NDP	ORPHA:190
HP:0000486	Strabismus	220202	ATOH7	ORPHA:91495
HP:0000486	Strabismus	8322	FZD4	ORPHA:91495
HP:0000486	Strabismus	55593	OTUD5	OMIM:301056
HP:0000486	Strabismus	84162	BLTP1	OMIM:617822
HP:0000486	Strabismus	2902	GRIN1	OMIM:617820
HP:0000486	Strabismus	2902	GRIN1	ORPHA:1934
HP:0000486	Strabismus	23291	FBXW11	OMIM:618914
HP:0000486	Strabismus	2782	GNB1	OMIM:616973
HP:0000486	Strabismus	2782	GNB1	ORPHA:488613
HP:0000486	Strabismus	5076	PAX2	ORPHA:1475
HP:0000486	Strabismus	5076	PAX2	OMIM:120330
HP:0000486	Strabismus	10413	YAP1	ORPHA:1473
HP:0000486	Strabismus	50	ACO2	OMIM:614559
HP:0000486	Strabismus	10982	MAPRE2	OMIM:616734
HP:0000486	Strabismus	767	CA8	OMIM:613227
HP:0000486	Strabismus	767	CA8	ORPHA:1766
HP:0000486	Strabismus	84679	SLC9A7	OMIM:301024
HP:0000486	Strabismus	2239	GPC4	OMIM:301026
HP:0000486	Strabismus	2332	FMR1	ORPHA:449291
HP:0000486	Strabismus	2332	FMR1	ORPHA:908
HP:0000486	Strabismus	2200	FBN1	OMIM:154700
HP:0000486	Strabismus	2200	FBN1	ORPHA:2833
HP:0000486	Strabismus	2200	FBN1	ORPHA:2462
HP:0000486	Strabismus	63035	BCORL1	OMIM:301029
HP:0000486	Strabismus	85358	SHANK3	ORPHA:48652
HP:0000486	Strabismus	85358	SHANK3	OMIM:606232
HP:0000486	Strabismus	440435	GPR179	OMIM:614565
HP:0000486	Strabismus	440435	GPR179	ORPHA:215
HP:0000486	Strabismus	6597	SMARCA4	ORPHA:1465
HP:0000486	Strabismus	6598	SMARCB1	ORPHA:1465
HP:0000486	Strabismus	6659	SOX4	ORPHA:1465
HP:0000486	Strabismus	8289	ARID1A	ORPHA:1465
HP:0000486	Strabismus	8289	ARID1A	OMIM:614607
HP:0000486	Strabismus	5977	DPF2	ORPHA:1465
HP:0000486	Strabismus	5977	DPF2	OMIM:618027
HP:0000486	Strabismus	6601	SMARCC2	ORPHA:1465
HP:0000486	Strabismus	6602	SMARCD1	ORPHA:1465
HP:0000486	Strabismus	57492	ARID1B	ORPHA:1465
HP:0000486	Strabismus	57492	ARID1B	OMIM:135900
HP:0000486	Strabismus	196528	ARID2	ORPHA:1465
HP:0000486	Strabismus	6605	SMARCE1	ORPHA:1465
HP:0000486	Strabismus	6664	SOX11	ORPHA:1465
HP:0000486	Strabismus	9378	NRXN1	OMIM:614325
HP:0000486	Strabismus	259232	NALCN	OMIM:615419
HP:0000486	Strabismus	259232	NALCN	OMIM:616266
HP:0000486	Strabismus	259232	NALCN	ORPHA:2053
HP:0000486	Strabismus	259232	NALCN	ORPHA:371364
HP:0000486	Strabismus	79583	TMEM231	ORPHA:2318
HP:0000486	Strabismus	51524	TMEM138	ORPHA:2318
HP:0000486	Strabismus	23090	ZNF423	ORPHA:2318
HP:0000486	Strabismus	80184	CEP290	ORPHA:2318
HP:0000486	Strabismus	51259	TMEM216	ORPHA:2318
HP:0000486	Strabismus	57545	CC2D2A	ORPHA:2318
HP:0000486	Strabismus	57545	CC2D2A	ORPHA:1454
HP:0000486	Strabismus	57545	CC2D2A	OMIM:619111
HP:0000486	Strabismus	1000	CDH2	OMIM:618929
HP:0000486	Strabismus	10804	GJB6	OMIM:129500
HP:0000486	Strabismus	545	ATR	OMIM:210600
HP:0000486	Strabismus	91147	TMEM67	ORPHA:1454
HP:0000486	Strabismus	91147	TMEM67	ORPHA:475
HP:0000486	Strabismus	91147	TMEM67	OMIM:613550
HP:0000486	Strabismus	149461	CLDN19	OMIM:248190
HP:0000486	Strabismus	57531	HACE1	OMIM:616756
HP:0000486	Strabismus	2313	FLI1	ORPHA:2308
HP:0000486	Strabismus	9361	LONP1	ORPHA:1458
HP:0000486	Strabismus	4758	NEU1	ORPHA:93400
HP:0000486	Strabismus	4758	NEU1	ORPHA:93399
HP:0000486	Strabismus	23476	BRD4	ORPHA:199
HP:0000486	Strabismus	9126	SMC3	ORPHA:199
HP:0000486	Strabismus	8243	SMC1A	ORPHA:199
HP:0000486	Strabismus	55869	HDAC8	ORPHA:199
HP:0000486	Strabismus	5885	RAD21	ORPHA:199
HP:0000486	Strabismus	6197	RPS6KA3	ORPHA:192
HP:0000486	Strabismus	10664	CTCF	ORPHA:363611
HP:0000486	Strabismus	10664	CTCF	OMIM:615502
HP:0000486	Strabismus	157680	VPS13B	ORPHA:193
HP:0000486	Strabismus	9150	CTDP1	ORPHA:48431
HP:0000486	Strabismus	81689	ISCA1	OMIM:617613
HP:0000486	Strabismus	1103	CHAT	OMIM:254210
HP:0000486	Strabismus	1861	TOR1A	OMIM:618947
HP:0000486	Strabismus	998	CDC42	ORPHA:487796
HP:0000486	Strabismus	8936	WASF1	OMIM:618707
HP:0000486	Strabismus	23545	ATP6V0A2	OMIM:219200
HP:0000486	Strabismus	23545	ATP6V0A2	ORPHA:357074
HP:0000486	Strabismus	23556	PIGN	ORPHA:280633
HP:0000486	Strabismus	55617	TASP1	OMIM:618950
HP:0000486	Strabismus	122553	TRAPPC6B	OMIM:617862
HP:0000486	Strabismus	92335	STRADA	OMIM:611087
HP:0000486	Strabismus	57688	ZSWIM6	OMIM:617865
HP:0000486	Strabismus	1806	DPYD	ORPHA:1675
HP:0000486	Strabismus	2893	GRIA4	OMIM:617864
HP:0000486	Strabismus	219285	SAMD9L	OMIM:619806
HP:0000486	Strabismus	5456	POU3F4	ORPHA:1435
HP:0000486	Strabismus	55691	FRMD4A	ORPHA:466688
HP:0000486	Strabismus	55691	FRMD4A	OMIM:616819
HP:0000486	Strabismus	6389	SDHA	ORPHA:255241
HP:0000486	Strabismus	80704	SLC19A3	ORPHA:255241
HP:0000486	Strabismus	91942	NDUFAF2	ORPHA:255241
HP:0000486	Strabismus	91942	NDUFAF2	ORPHA:2609
HP:0000486	Strabismus	6834	SURF1	ORPHA:255241
HP:0000486	Strabismus	4723	NDUFV1	ORPHA:255241
HP:0000486	Strabismus	4723	NDUFV1	ORPHA:2609
HP:0000486	Strabismus	4723	NDUFV1	OMIM:618225
HP:0000486	Strabismus	55572	FOXRED1	ORPHA:255241
HP:0000486	Strabismus	55572	FOXRED1	ORPHA:2609
HP:0000486	Strabismus	4729	NDUFV2	ORPHA:255241
HP:0000486	Strabismus	4729	NDUFV2	ORPHA:2609
HP:0000486	Strabismus	55967	NDUFA12	ORPHA:255241
HP:0000486	Strabismus	51204	TACO1	ORPHA:255241
HP:0000486	Strabismus	4720	NDUFS2	ORPHA:255241
HP:0000486	Strabismus	4720	NDUFS2	ORPHA:2609
HP:0000486	Strabismus	4724	NDUFS4	ORPHA:255241
HP:0000486	Strabismus	4724	NDUFS4	OMIM:252010
HP:0000486	Strabismus	4724	NDUFS4	ORPHA:2609
HP:0000486	Strabismus	4728	NDUFS8	ORPHA:255241
HP:0000486	Strabismus	4728	NDUFS8	ORPHA:2609
HP:0000486	Strabismus	137682	NDUFAF6	ORPHA:255241
HP:0000486	Strabismus	4722	NDUFS3	ORPHA:255241
HP:0000486	Strabismus	4722	NDUFS3	ORPHA:2609
HP:0000486	Strabismus	79133	NDUFAF5	ORPHA:255241
HP:0000486	Strabismus	79133	NDUFAF5	ORPHA:2609
HP:0000486	Strabismus	5160	PDHA1	ORPHA:255241
HP:0000486	Strabismus	100131801	PET100	ORPHA:255241
HP:0000486	Strabismus	1355	COX15	ORPHA:255241
HP:0000486	Strabismus	1892	ECHS1	ORPHA:255241
HP:0000486	Strabismus	51079	NDUFA13	ORPHA:255241
HP:0000486	Strabismus	374291	NDUFS7	ORPHA:255241
HP:0000486	Strabismus	374291	NDUFS7	ORPHA:2609
HP:0000486	Strabismus	4705	NDUFA10	ORPHA:255241
HP:0000486	Strabismus	51601	LIPT1	ORPHA:255241
HP:0000486	Strabismus	4719	NDUFS1	ORPHA:255241
HP:0000486	Strabismus	4719	NDUFS1	ORPHA:2609
HP:0000486	Strabismus	4719	NDUFS1	OMIM:618226
HP:0000486	Strabismus	4695	NDUFA2	ORPHA:255241
HP:0000486	Strabismus	4697	NDUFA4	ORPHA:255241
HP:0000486	Strabismus	4704	NDUFA9	ORPHA:255241
HP:0000486	Strabismus	1123	CHN1	OMIM:604356
HP:0000486	Strabismus	1123	CHN1	ORPHA:233
HP:0000486	Strabismus	54888	NSUN2	OMIM:611091
HP:0000486	Strabismus	54888	NSUN2	ORPHA:235
HP:0000486	Strabismus	6651	SON	ORPHA:500150
HP:0000486	Strabismus	6651	SON	OMIM:617140
HP:0000486	Strabismus	55733	HHAT	ORPHA:1422
HP:0000486	Strabismus	387	RHOA	OMIM:618727
HP:0000486	Strabismus	8777	MPDZ	OMIM:615219
HP:0000486	Strabismus	85378	TUBGCP6	ORPHA:2518
HP:0000486	Strabismus	27229	TUBGCP4	ORPHA:2518
HP:0000486	Strabismus	10733	PLK4	ORPHA:2518
HP:0000486	Strabismus	23389	MED13L	OMIM:616789
HP:0000486	Strabismus	1788	DNMT3A	OMIM:618724
HP:0000486	Strabismus	4621	MYH3	ORPHA:2990
HP:0000486	Strabismus	4621	MYH3	OMIM:193700
HP:0000486	Strabismus	4621	MYH3	ORPHA:2053
HP:0000486	Strabismus	1146	CHRNG	ORPHA:2990
HP:0000486	Strabismus	9939	RBM8A	OMIM:274000
HP:0000486	Strabismus	1302	COL11A2	ORPHA:1427
HP:0000486	Strabismus	3778	KCNMA1	OMIM:618729
HP:0000486	Strabismus	9451	EIF2AK3	ORPHA:1667
HP:0000486	Strabismus	8139	GAN	OMIM:256850
HP:0000486	Strabismus	87178	PNPT1	OMIM:608703
HP:0000486	Strabismus	87178	PNPT1	ORPHA:101111
HP:0000486	Strabismus	11141	IL1RAPL1	OMIM:300143
HP:0000486	Strabismus	1968	EIF2S3	OMIM:300148
HP:0000486	Strabismus	57647	DHX37	OMIM:618731
HP:0000486	Strabismus	5087	PBX1	OMIM:617641
HP:0000486	Strabismus	7545	ZIC1	OMIM:618736
HP:0000486	Strabismus	7545	ZIC1	OMIM:616602
HP:0000486	Strabismus	4281	MID1	ORPHA:2745
HP:0000486	Strabismus	8398	PLA2G6	OMIM:256600
HP:0000486	Strabismus	8398	PLA2G6	ORPHA:35069
HP:0000486	Strabismus	529	ATP6V1E1	OMIM:617402
HP:0000486	Strabismus	529	ATP6V1E1	ORPHA:357074
HP:0000486	Strabismus	170302	ARX	ORPHA:2508
HP:0000486	Strabismus	170302	ARX	ORPHA:1934
HP:0000486	Strabismus	170302	ARX	OMIM:300004
HP:0000486	Strabismus	1001	CDH3	ORPHA:1897
HP:0000486	Strabismus	1409	CRYAA	OMIM:604219
HP:0000486	Strabismus	7528	YY1	ORPHA:506358
HP:0000486	Strabismus	7528	YY1	OMIM:617557
HP:0000486	Strabismus	8036	SHOC2	OMIM:607721
HP:0000486	Strabismus	25915	NDUFAF3	ORPHA:2609
HP:0000486	Strabismus	51103	NDUFAF1	ORPHA:2609
HP:0000486	Strabismus	51300	TIMMDC1	ORPHA:2609
HP:0000486	Strabismus	4716	NDUFB10	ORPHA:2609
HP:0000486	Strabismus	284184	NDUFAF8	ORPHA:2609
HP:0000486	Strabismus	55863	TMEM126B	ORPHA:2609
HP:0000486	Strabismus	4535	MT-ND1	ORPHA:2609
HP:0000486	Strabismus	4537	MT-ND3	ORPHA:2609
HP:0000486	Strabismus	4694	NDUFA1	ORPHA:2609
HP:0000486	Strabismus	4726	NDUFS6	ORPHA:2609
HP:0000486	Strabismus	126328	NDUFA11	ORPHA:2609
HP:0000486	Strabismus	4709	NDUFB3	ORPHA:2609
HP:0000486	Strabismus	80224	NUBPL	ORPHA:2609
HP:0000486	Strabismus	80224	NUBPL	OMIM:618242
HP:0000486	Strabismus	29078	NDUFAF4	ORPHA:2609
HP:0000486	Strabismus	4700	NDUFA6	ORPHA:2609
HP:0000486	Strabismus	4536	MT-ND2	ORPHA:2609
HP:0000486	Strabismus	4715	NDUFB9	ORPHA:2609
HP:0000486	Strabismus	8367	H4C5	OMIM:619950
HP:0000486	Strabismus	8294	H4C9	OMIM:619951
HP:0000486	Strabismus	2132	EXT2	OMIM:616682
HP:0000486	Strabismus	2132	EXT2	ORPHA:52022
HP:0000486	Strabismus	23446	SLC44A1	OMIM:618868
HP:0000486	Strabismus	10054	UBA2	OMIM:619959
HP:0000486	Strabismus	60684	TRAPPC11	OMIM:615356
HP:0000486	Strabismus	60684	TRAPPC11	ORPHA:369847
HP:0000486	Strabismus	5361	PLXNA1	OMIM:619955
HP:0000486	Strabismus	22800	RRAS2	OMIM:618624
HP:0000486	Strabismus	22800	RRAS2	ORPHA:648
HP:0000486	Strabismus	3008	H1-4	OMIM:617537
HP:0000486	Strabismus	3703	STT3A	OMIM:619714
HP:0000486	Strabismus	84942	WDR73	OMIM:251300
HP:0000486	Strabismus	1736	DKC1	OMIM:305000
HP:0000486	Strabismus	84570	COL25A1	ORPHA:91411
HP:0000486	Strabismus	79776	ZFHX4	ORPHA:91411
HP:0000486	Strabismus	51761	ATP8A2	ORPHA:1766
HP:0000486	Strabismus	2067	ERCC1	ORPHA:90322
HP:0000486	Strabismus	116931	MED12L	OMIM:618872
HP:0000486	Strabismus	3020	H3-3A	OMIM:619720
HP:0000486	Strabismus	79639	TMEM53	OMIM:619727
HP:0000486	Strabismus	10730	YME1L1	OMIM:617302
HP:0000486	Strabismus	57156	TMEM63C	OMIM:619966
HP:0000486	Strabismus	23384	SPECC1L	ORPHA:1519
HP:0000486	Strabismus	6660	SOX5	ORPHA:313892
HP:0000486	Strabismus	6660	SOX5	OMIM:616803
HP:0000486	Strabismus	28514	DLL1	ORPHA:280200
HP:0000486	Strabismus	2253	FGF8	ORPHA:280200
HP:0000486	Strabismus	6496	SIX3	ORPHA:280200
HP:0000486	Strabismus	7050	TGIF1	ORPHA:280200
HP:0000486	Strabismus	4838	NODAL	ORPHA:280200
HP:0000486	Strabismus	6469	SHH	ORPHA:280200
HP:0000486	Strabismus	7546	ZIC2	ORPHA:280200
HP:0000486	Strabismus	2619	GAS1	ORPHA:280200
HP:0000486	Strabismus	84976	DISP1	ORPHA:280200
HP:0000486	Strabismus	2736	GLI2	ORPHA:280200
HP:0000486	Strabismus	8928	FOXH1	ORPHA:280200
HP:0000486	Strabismus	50937	CDON	ORPHA:280200
HP:0000486	Strabismus	55870	ASH1L	OMIM:617796
HP:0000486	Strabismus	816	CAMK2B	OMIM:617799
HP:0000486	Strabismus	815	CAMK2A	OMIM:617798
HP:0000486	Strabismus	64359	NXN	ORPHA:1507
HP:0000486	Strabismus	4920	ROR2	ORPHA:1507
HP:0000486	Strabismus	2626	GATA4	ORPHA:251071
HP:0000486	Strabismus	5566	PRKACA	ORPHA:289
HP:0000486	Strabismus	5567	PRKACB	ORPHA:289
HP:0000486	Strabismus	2735	GLI1	ORPHA:289
HP:0000486	Strabismus	2121	EVC	ORPHA:289
HP:0000486	Strabismus	51626	DYNC2LI1	ORPHA:289
HP:0000486	Strabismus	132884	EVC2	ORPHA:289
HP:0000486	Strabismus	54872	PIGG	ORPHA:280
HP:0000486	Strabismus	7469	NELFA	ORPHA:280
HP:0000486	Strabismus	283987	HID1	OMIM:619983
HP:0000486	Strabismus	1656	DDX6	OMIM:618653
HP:0000486	Strabismus	5442	POLRMT	OMIM:619743
HP:0000486	Strabismus	80208	SPG11	ORPHA:2822
HP:0000486	Strabismus	93627	TBCK	ORPHA:488632
HP:0000486	Strabismus	26057	ANKRD17	OMIM:619504
HP:0000486	Strabismus	9935	MAFB	ORPHA:233
HP:0000486	Strabismus	79600	TCTN1	ORPHA:475
HP:0000486	Strabismus	65250	CPLANE1	ORPHA:475
HP:0000486	Strabismus	200894	ARL13B	ORPHA:475
HP:0000486	Strabismus	9731	CEP104	ORPHA:475
HP:0000486	Strabismus	219844	HYLS1	ORPHA:475
HP:0000486	Strabismus	23247	KATNIP	ORPHA:475
HP:0000486	Strabismus	219854	TMEM218	ORPHA:475
HP:0000486	Strabismus	9786	KIAA0586	ORPHA:475
HP:0000486	Strabismus	79867	TCTN2	ORPHA:475
HP:0000486	Strabismus	80776	B9D2	ORPHA:475
HP:0000486	Strabismus	10464	PIBF1	ORPHA:475
HP:0000486	Strabismus	80210	ARMC9	ORPHA:475
HP:0000486	Strabismus	23116	TOGARAM1	ORPHA:475
HP:0000486	Strabismus	25776	CBY1	ORPHA:475
HP:0000486	Strabismus	27077	B9D1	ORPHA:475
HP:0000486	Strabismus	403	ARL3	ORPHA:475
HP:0000486	Strabismus	3981	LIG4	ORPHA:235
HP:0000486	Strabismus	253738	EBF3	OMIM:617330
HP:0000486	Strabismus	56006	SMG9	OMIM:619995
HP:0000486	Strabismus	1182	CLCN3	OMIM:619512
HP:0000486	Strabismus	29081	METTL5	OMIM:618665
HP:0000486	Strabismus	8879	SGPL1	OMIM:617575
HP:0000486	Strabismus	51604	PIGT	OMIM:615398
HP:0000486	Strabismus	51604	PIGT	ORPHA:369837
HP:0000486	Strabismus	84504	NKX6-2	ORPHA:527497
HP:0000486	Strabismus	7862	BRPF1	OMIM:617333
HP:0000486	Strabismus	55699	IARS2	OMIM:616007
HP:0000486	Strabismus	4191	MDH2	OMIM:617339
HP:0000486	Strabismus	8364	H4C3	OMIM:619758
HP:0000486	Strabismus	8517	IKBKG	ORPHA:464
HP:0000486	Strabismus	8517	IKBKG	OMIM:308300
HP:0000486	Strabismus	56052	ALG1	ORPHA:79327
HP:0000486	Strabismus	26137	ZBTB20	OMIM:259050
HP:0000486	Strabismus	8314	BAP1	OMIM:619762
HP:0000486	Strabismus	11234	HPS5	OMIM:614074
HP:0000486	Strabismus	79803	HPS6	OMIM:614075
HP:0000486	Strabismus	53335	BCL11A	OMIM:617101
HP:0000486	Strabismus	4849	CNOT3	OMIM:618672
HP:0000486	Strabismus	59336	PRDM13	OMIM:619761
HP:0000486	Strabismus	6942	TCF20	OMIM:618430
HP:0000486	Strabismus	9158	FIBP	OMIM:617107
HP:0000486	Strabismus	9158	FIBP	ORPHA:500095
HP:0000486	Strabismus	773	CACNA1A	OMIM:617106
HP:0000486	Strabismus	22	ABCB7	ORPHA:2802
HP:0000486	Strabismus	2542	SLC37A4	OMIM:619525
HP:0000486	Strabismus	9338	TCEAL1	OMIM:301094
HP:0000486	Strabismus	6925	TCF4	OMIM:610954
HP:0000486	Strabismus	6925	TCF4	ORPHA:2896
HP:0000486	Strabismus	93589	CACNA2D4	ORPHA:215
HP:0000486	Strabismus	2916	GRM6	ORPHA:215
HP:0000486	Strabismus	5158	PDE6B	ORPHA:215
HP:0000486	Strabismus	6011	GRK1	ORPHA:215
HP:0000486	Strabismus	6011	GRK1	ORPHA:75382
HP:0000486	Strabismus	778	CACNA1F	ORPHA:215
HP:0000486	Strabismus	6010	RHO	ORPHA:215
HP:0000486	Strabismus	9187	SLC24A1	ORPHA:215
HP:0000486	Strabismus	6295	SAG	ORPHA:215
HP:0000486	Strabismus	6295	SAG	ORPHA:75382
HP:0000486	Strabismus	2784	GNB3	ORPHA:215
HP:0000486	Strabismus	2779	GNAT1	ORPHA:215
HP:0000486	Strabismus	60506	NYX	ORPHA:215
HP:0000486	Strabismus	6785	ELOVL4	ORPHA:1955
HP:0000486	Strabismus	23314	SATB2	ORPHA:576283
HP:0000486	Strabismus	23314	SATB2	ORPHA:251019
HP:0000486	Strabismus	5373	PMM2	ORPHA:79318
HP:0000486	Strabismus	7030	TFE3	OMIM:301066
HP:0000486	Strabismus	23162	MAPK8IP3	OMIM:618443
HP:0000486	Strabismus	10463	SLC30A9	OMIM:617595
HP:0000486	Strabismus	8218	CLTCL1	ORPHA:453510
HP:0000486	Strabismus	2678	GGT1	OMIM:231950
HP:0000486	Strabismus	2006	ELN	ORPHA:90348
HP:0000486	Strabismus	2006	ELN	ORPHA:904
HP:0000486	Strabismus	2006	ELN	OMIM:194050
HP:0000486	Strabismus	10516	FBLN5	ORPHA:90348
HP:0000486	Strabismus	5832	ALDH18A1	ORPHA:90348
HP:0000486	Strabismus	5832	ALDH18A1	OMIM:219150
HP:0000486	Strabismus	5832	ALDH18A1	OMIM:616603
HP:0000486	Strabismus	23219	FBXO28	OMIM:619777
HP:0000486	Strabismus	3930	LBR	OMIM:169400
HP:0000486	Strabismus	1107	CHD3	OMIM:618205
HP:0000486	Strabismus	404672	GTF2H5	ORPHA:33364
HP:0000486	Strabismus	833	CARS1	ORPHA:33364
HP:0000486	Strabismus	7737	RNF113A	ORPHA:33364
HP:0000486	Strabismus	136647	MPLKIP	ORPHA:33364
HP:0000486	Strabismus	6897	TARS1	ORPHA:33364
HP:0000486	Strabismus	2071	ERCC3	ORPHA:33364
HP:0000486	Strabismus	2071	ERCC3	ORPHA:910
HP:0000486	Strabismus	2961	GTF2E2	ORPHA:33364
HP:0000486	Strabismus	29929	ALG6	ORPHA:79320
HP:0000486	Strabismus	29929	ALG6	OMIM:603147
HP:0000486	Strabismus	79087	ALG12	ORPHA:79324
HP:0000486	Strabismus	1723	DHODH	ORPHA:246
HP:0000486	Strabismus	10195	ALG3	OMIM:601110
HP:0000486	Strabismus	3897	L1CAM	OMIM:304100
HP:0000486	Strabismus	3897	L1CAM	ORPHA:2182
HP:0000486	Strabismus	3897	L1CAM	OMIM:303350
HP:0000486	Strabismus	9896	FIG4	ORPHA:208441
HP:0000486	Strabismus	3845	KRAS	OMIM:600268
HP:0000486	Strabismus	3845	KRAS	ORPHA:648
HP:0000486	Strabismus	3845	KRAS	ORPHA:3339
HP:0000486	Strabismus	3845	KRAS	ORPHA:1340
HP:0000486	Strabismus	3845	KRAS	OMIM:609942
HP:0000486	Strabismus	8621	CDK13	OMIM:617360
HP:0000486	Strabismus	51013	EXOSC1	OMIM:619304
HP:0000486	Strabismus	6857	SYT1	OMIM:618218
HP:0000486	Strabismus	6857	SYT1	ORPHA:522077
HP:0000486	Strabismus	6792	CDKL5	ORPHA:1934
HP:0000486	Strabismus	3736	KCNA1	ORPHA:1934
HP:0000486	Strabismus	9091	PIGQ	ORPHA:1934
HP:0000486	Strabismus	2775	GNAO1	ORPHA:1934
HP:0000486	Strabismus	81603	TRIM8	ORPHA:1934
HP:0000486	Strabismus	79751	SLC25A22	ORPHA:1934
HP:0000486	Strabismus	150094	SIK1	ORPHA:1934
HP:0000486	Strabismus	23312	DMXL2	ORPHA:1934
HP:0000486	Strabismus	2917	GRM7	ORPHA:1934
HP:0000486	Strabismus	11284	PNKP	ORPHA:1934
HP:0000486	Strabismus	6326	SCN2A	ORPHA:1934
HP:0000486	Strabismus	51227	PIGP	ORPHA:1934
HP:0000486	Strabismus	6324	SCN1B	ORPHA:1934
HP:0000486	Strabismus	4761	NEUROD2	ORPHA:1934
HP:0000486	Strabismus	10466	COG5	ORPHA:263487
HP:0000486	Strabismus	30000	TNPO2	OMIM:619556
HP:0000486	Strabismus	6477	SIAH1	OMIM:619314
HP:0000486	Strabismus	54892	NCAPG2	OMIM:618460
HP:0000486	Strabismus	55628	ZNF407	OMIM:619557
HP:0000486	Strabismus	26275	HIBCH	ORPHA:88639
HP:0000486	Strabismus	26275	HIBCH	OMIM:250620
HP:0000486	Strabismus	29998	BICRA	OMIM:619325
HP:0000486	Strabismus	4081	MAB21L1	OMIM:618479
HP:0000486	Strabismus	6833	ABCC8	OMIM:240800
HP:0000486	Strabismus	5010	CLDN11	OMIM:619328
HP:0000486	Strabismus	2710	GK	OMIM:307030
HP:0000486	Strabismus	9179	AP4M1	OMIM:612936
HP:0000486	Strabismus	9179	AP4M1	ORPHA:280763
HP:0000486	Strabismus	387119	CEP85L	ORPHA:572013
HP:0000486	Strabismus	79944	L2HGDH	OMIM:236792
HP:0000486	Strabismus	1741	DLG3	OMIM:300850
HP:0000486	Strabismus	57551	TAOK1	OMIM:619575
HP:0000486	Strabismus	56915	EXOSC5	OMIM:619576
HP:0000486	Strabismus	2077	ERF	ORPHA:207
HP:0000486	Strabismus	5351	PLOD1	ORPHA:1900
HP:0000486	Strabismus	55750	AGK	OMIM:212350
HP:0000486	Strabismus	55750	AGK	ORPHA:1369
HP:0000486	Strabismus	3265	HRAS	ORPHA:3071
HP:0000486	Strabismus	3265	HRAS	OMIM:218040
HP:0000486	Strabismus	2898	GRIK2	OMIM:619580
HP:0000486	Strabismus	191	AHCY	ORPHA:88618
HP:0000486	Strabismus	9496	TBX4	ORPHA:261279
HP:0000486	Strabismus	6712	SPTBN2	OMIM:600224
HP:0000486	Strabismus	6712	SPTBN2	ORPHA:352403
HP:0000486	Strabismus	774	CACNA1B	OMIM:618497
HP:0000486	Strabismus	10524	KAT5	OMIM:619103
HP:0000486	Strabismus	372	ARCN1	OMIM:617164
HP:0000486	Strabismus	54681	P4HTM	OMIM:618493
HP:0000486	Strabismus	26040	SETBP1	OMIM:616078
HP:0000486	Strabismus	2475	MTOR	ORPHA:457485
HP:0000486	Strabismus	2475	MTOR	OMIM:616638
HP:0000486	Strabismus	5573	PRKAR1A	OMIM:101800
HP:0000486	Strabismus	80185	TTI2	ORPHA:391307
HP:0000486	Strabismus	80185	TTI2	OMIM:615541
HP:0000486	Strabismus	668	FOXL2	OMIM:110100
HP:0000486	Strabismus	668	FOXL2	ORPHA:572333
HP:0000486	Strabismus	10847	SRCAP	OMIM:619595
HP:0000486	Strabismus	10847	SRCAP	ORPHA:2044
HP:0000486	Strabismus	10847	SRCAP	OMIM:136140
HP:0000486	Strabismus	5702	PSMC3	OMIM:619354
HP:0000486	Strabismus	79005	SCNM1	OMIM:620107
HP:0000486	Strabismus	4983	OPHN1	ORPHA:137831
HP:0000486	Strabismus	4983	OPHN1	OMIM:300486
HP:0000486	Strabismus	4810	NHS	ORPHA:627
HP:0000486	Strabismus	526	ATP6V1B2	ORPHA:79500
HP:0000486	Strabismus	57465	TBC1D24	ORPHA:79500
HP:0000486	Strabismus	51317	PHF21A	ORPHA:52022
HP:0000486	Strabismus	84172	POLR1B	ORPHA:861
HP:0000486	Strabismus	9533	POLR1C	ORPHA:861
HP:0000486	Strabismus	51082	POLR1D	ORPHA:861
HP:0000486	Strabismus	374354	NHLRC2	OMIM:618278
HP:0000486	Strabismus	128240	NAXE	OMIM:617186
HP:0000486	Strabismus	5130	PCYT1A	ORPHA:85167
HP:0000486	Strabismus	6472	SHMT2	OMIM:619121
HP:0000486	Strabismus	23287	AGTPBP1	OMIM:618276
HP:0000486	Strabismus	23287	AGTPBP1	ORPHA:2254
HP:0000486	Strabismus	6299	SALL1	ORPHA:857
HP:0000486	Strabismus	51339	DACT1	ORPHA:857
HP:0000486	Strabismus	22995	CEP152	OMIM:613823
HP:0000486	Strabismus	5077	PAX3	ORPHA:894
HP:0000486	Strabismus	6904	TBCD	OMIM:617193
HP:0000486	Strabismus	55835	CENPJ	OMIM:608393
HP:0000486	Strabismus	4668	NAGA	OMIM:609241
HP:0000486	Strabismus	4668	NAGA	ORPHA:79281
HP:0000486	Strabismus	4668	NAGA	ORPHA:79279
HP:0000486	Strabismus	4157	MC1R	OMIM:203200
HP:0000486	Strabismus	3295	HSD17B4	OMIM:261515
HP:0000486	Strabismus	867	CBL	ORPHA:648
HP:0000486	Strabismus	8216	LZTR1	ORPHA:648
HP:0000486	Strabismus	6016	RIT1	ORPHA:648
HP:0000486	Strabismus	6237	RRAS	ORPHA:648
HP:0000486	Strabismus	5894	RAF1	ORPHA:648
HP:0000486	Strabismus	22808	MRAS	ORPHA:648
HP:0000486	Strabismus	200734	SPRED2	ORPHA:648
HP:0000486	Strabismus	4893	NRAS	ORPHA:648
HP:0000486	Strabismus	6654	SOS1	ORPHA:648
HP:0000486	Strabismus	6655	SOS2	ORPHA:648
HP:0000486	Strabismus	5781	PTPN11	ORPHA:648
HP:0000486	Strabismus	5781	PTPN11	OMIM:151100
HP:0000486	Strabismus	5922	RASA2	ORPHA:648
HP:0000486	Strabismus	84233	TMEM126A	OMIM:612989
HP:0000486	Strabismus	11011	TLK2	OMIM:618050
HP:0000486	Strabismus	27161	AGO2	OMIM:619149
HP:0000486	Strabismus	8665	EIF3F	OMIM:618295
HP:0000486	Strabismus	3480	IGF1R	OMIM:270450
HP:0000486	Strabismus	10128	LRPPRC	OMIM:220111
HP:0000486	Strabismus	10134	BCAP31	OMIM:300475
HP:0000486	Strabismus	10134	BCAP31	ORPHA:369939
HP:0000486	Strabismus	158	ADSL	OMIM:103050
HP:0000486	Strabismus	1545	CYP1B1	ORPHA:708
HP:0000486	Strabismus	2301	FOXE3	ORPHA:708
HP:0000486	Strabismus	2296	FOXC1	ORPHA:708
HP:0000486	Strabismus	10274	STAG1	ORPHA:502434
HP:0000486	Strabismus	10992	SF3B2	OMIM:164210
HP:0000486	Strabismus	501	ALDH7A1	OMIM:266100
HP:0000486	Strabismus	374654	KIF7	OMIM:200990
HP:0000486	Strabismus	2911	GRM1	OMIM:614831
HP:0000486	Strabismus	25782	RAB3GAP2	OMIM:212720
HP:0000486	Strabismus	3899	AFF3	OMIM:619297
HP:0000486	Strabismus	1757	SARDH	ORPHA:3129
HP:0000486	Strabismus	7045	TGFBI	OMIM:608470
HP:0000486	Strabismus	7045	TGFBI	OMIM:121900
HP:0000486	Strabismus	10015	PDCD6IP	OMIM:620047
HP:0000486	Strabismus	8546	AP3B1	OMIM:608233
HP:0000486	Strabismus	4591	TRIM37	OMIM:253250
HP:0000486	Strabismus	2615	LRRC32	OMIM:619074
HP:0000486	Strabismus	1727	CYB5R3	OMIM:250800
HP:0000486	Strabismus	1857	DVL3	ORPHA:3107
HP:0000486	Strabismus	7474	WNT5A	ORPHA:3107
HP:0000486	Strabismus	1855	DVL1	ORPHA:3107
HP:0000486	Strabismus	2535	FZD2	ORPHA:3107
HP:0000486	Strabismus	6804	STX1A	ORPHA:904
HP:0000486	Strabismus	7461	CLIP2	ORPHA:904
HP:0000486	Strabismus	84277	DNAJC30	ORPHA:904
HP:0000486	Strabismus	8468	FKBP6	ORPHA:904
HP:0000486	Strabismus	5982	RFC2	ORPHA:904
HP:0000486	Strabismus	2969	GTF2I	ORPHA:904
HP:0000486	Strabismus	3984	LIMK1	ORPHA:904
HP:0000486	Strabismus	9569	GTF2IRD1	ORPHA:904
HP:0000486	Strabismus	155382	VPS37D	ORPHA:904
HP:0000486	Strabismus	155368	METTL27	ORPHA:904
HP:0000486	Strabismus	114049	BUD23	ORPHA:904
HP:0000486	Strabismus	7458	EIF4H	ORPHA:904
HP:0000486	Strabismus	84163	GTF2IRD2	ORPHA:904
HP:0000486	Strabismus	9275	BCL7B	ORPHA:904
HP:0000486	Strabismus	26608	TBL2	ORPHA:904
HP:0000486	Strabismus	653361	NCF1	ORPHA:904
HP:0000486	Strabismus	135886	TMEM270	ORPHA:904
HP:0000486	Strabismus	51085	MLXIPL	ORPHA:904
HP:0000486	Strabismus	51085	MLXIPL	OMIM:194050
HP:0000486	Strabismus	9031	BAZ1B	ORPHA:904
HP:0000486	Strabismus	11340	EXOSC8	ORPHA:2254
HP:0000486	Strabismus	5393	EXOSC9	ORPHA:2254
HP:0000486	Strabismus	51010	EXOSC3	ORPHA:2254
HP:0000486	Strabismus	51010	EXOSC3	OMIM:614678
HP:0000486	Strabismus	7443	VRK1	ORPHA:2254
HP:0000486	Strabismus	91137	SLC25A46	ORPHA:2254
HP:0000486	Strabismus	81031	SLC2A10	ORPHA:3342
HP:0000486	Strabismus	4976	OPA1	OMIM:165500
HP:0000486	Strabismus	4976	OPA1	OMIM:125250
HP:0000486	Strabismus	83475	DOHH	OMIM:620066
HP:0000486	Strabismus	6329	SCN4A	ORPHA:99734
HP:0000486	Strabismus	10236	HNRNPR	OMIM:620073
HP:0000486	Strabismus	78989	COLEC11	OMIM:265050
HP:0000486	Strabismus	4089	SMAD4	OMIM:139210
HP:0000486	Strabismus	284217	LAMA1	OMIM:615960
HP:0000486	Strabismus	284217	LAMA1	ORPHA:370022
HP:0000486	Strabismus	51244	CCDC174	OMIM:616816
HP:0000486	Strabismus	23065	EMC1	ORPHA:480898
HP:0000486	Strabismus	3187	HNRNPH1	OMIM:620083
HP:0000486	Strabismus	9928	KIF14	OMIM:617914
HP:0000486	Strabismus	1634	DCN	OMIM:610048
HP:0000486	Strabismus	84978	FRMD5	OMIM:620094
HP:0000486	Strabismus	5631	PRPS1	OMIM:300661
HP:0000486	Strabismus	51067	YARS2	OMIM:613561
HP:0000486	Strabismus	2702	GJA5	OMIM:612474
HP:0000486	Strabismus	2703	GJA8	OMIM:612474
HP:0000486	Strabismus	3329	HSPD1	OMIM:612233
HP:0000486	Strabismus	51053	GMNN	OMIM:616835
HP:0000486	Strabismus	27241	BBS9	OMIM:615986
HP:0000486	Strabismus	7507	XPA	ORPHA:910
HP:0000486	Strabismus	7508	XPC	ORPHA:910
HP:0000486	Strabismus	1643	DDB2	ORPHA:910
HP:0000486	Strabismus	2073	ERCC5	ORPHA:910
HP:0000486	Strabismus	51621	KLF13	OMIM:612001
HP:0000486	Strabismus	2335	FN1	ORPHA:93315
HP:0000486	Strabismus	1280	COL2A1	ORPHA:93315
HP:0000486	Strabismus	29926	GMPPA	OMIM:615510
HP:0000486	Strabismus	22845	DOLK	ORPHA:91131
HP:0000486	Strabismus	291	SLC25A4	ORPHA:1369
HP:0000486	Strabismus	26007	TKFC	ORPHA:1369
HP:0000486	Strabismus	10157	AASS	ORPHA:2203
HP:0000486	Strabismus	55784	MCTP2	ORPHA:1596
HP:0000486	Strabismus	51218	GLRX5	OMIM:616859
HP:0000486	Strabismus	5053	PAH	ORPHA:2209
HP:0000486	Strabismus	26224	FBXL3	OMIM:606220
HP:0000486	Strabismus	4297	KMT2A	OMIM:605130
HP:0000486	Strabismus	11253	MAN1B1	OMIM:614202
HP:0000486	Strabismus	10352	WARS2	OMIM:617710
HP:0000486	Strabismus	7874	USP7	OMIM:616863
HP:0000486	Strabismus	7874	USP7	ORPHA:500055
HP:0000486	Strabismus	27315	PGAP2	OMIM:614207
HP:0000486	Strabismus	54974	THG1L	OMIM:618800
HP:0000486	Strabismus	5604	MAP2K1	ORPHA:1340
HP:0000486	Strabismus	26146	TRAF3IP1	OMIM:616629
HP:0000486	Strabismus	1737	DLAT	ORPHA:79244
HP:0000486	Strabismus	3209	HOXA13	ORPHA:2438
HP:0000486	Strabismus	2248	FGF3	ORPHA:90024
HP:0000486	Strabismus	23395	LARS2	OMIM:615300
HP:0000486	Strabismus	80781	COL18A1	ORPHA:1571
HP:0000486	Strabismus	5062	PAK2	ORPHA:1571
HP:0000486	Strabismus	55644	OSGEP	OMIM:617729
HP:0000486	Strabismus	3835	KIF22	ORPHA:93360
HP:0000486	Strabismus	6938	TCF12	OMIM:615314
HP:0000486	Strabismus	4659	PPP1R12A	OMIM:618820
HP:0000486	Strabismus	285175	UNC80	ORPHA:371364
HP:0000486	Strabismus	8405	SPOP	OMIM:618829
HP:0000486	Strabismus	8905	AP1S2	ORPHA:1568
HP:0000486	Strabismus	23630	KCNE5	ORPHA:86818
HP:0000486	Strabismus	2182	ACSL4	ORPHA:86818
HP:0000486	Strabismus	7204	TRIO	ORPHA:476126
HP:0000486	Strabismus	10717	AP4B1	ORPHA:280763
HP:0000486	Strabismus	11154	AP4S1	ORPHA:280763
HP:0000486	Strabismus	23431	AP4E1	ORPHA:280763
HP:0000486	Strabismus	9320	TRIP12	OMIM:617752
HP:0000486	Strabismus	523	ATP6V1A	ORPHA:357074
HP:0000486	Strabismus	738	VPS51	OMIM:618606
HP:0000486	Strabismus	5718	PSMD12	OMIM:617516
HP:0000486	Strabismus	5430	POLR2A	OMIM:618603
HP:0000486	Strabismus	23592	LEMD3	ORPHA:1306
HP:0000486	Strabismus	6913	TBX15	ORPHA:93333
HP:0000486	Strabismus	9130	FAM50A	OMIM:300261
HP:0000486	Strabismus	23102	TBC1D2B	ORPHA:397973
HP:0000486	Strabismus	23404	EXOSC2	OMIM:617763
HP:0000486	Strabismus	8803	SUCLA2	OMIM:612073
HP:0000486	Strabismus	22978	NT5C2	OMIM:613162
HP:0000486	Strabismus	9181	ARHGEF2	OMIM:617523
HP:0000486	Strabismus	4041	LRP5	OMIM:133780
HP:0000486	Strabismus	50964	SOST	OMIM:269500
HP:0000486	Strabismus	2895	GRID2	OMIM:616204
HP:0000486	Strabismus	50484	RRM2B	ORPHA:329336
HP:0000486	Strabismus	246243	RNASEH1	ORPHA:329336
HP:0000486	Strabismus	5428	POLG	OMIM:258450
HP:0000486	Strabismus	79796	ALG9	OMIM:608776
HP:0000486	Strabismus	79796	ALG9	ORPHA:79328
HP:0000486	Strabismus	1303	COL12A1	ORPHA:75840
HP:0000486	Strabismus	1291	COL6A1	ORPHA:75840
HP:0000486	Strabismus	1292	COL6A2	ORPHA:75840
HP:0000486	Strabismus	1293	COL6A3	ORPHA:75840
HP:0000486	Strabismus	5575	PRKAR1B	OMIM:619680
HP:0000486	Strabismus	2581	GALC	ORPHA:206443
HP:0000486	Strabismus	388015	RTL1	ORPHA:254528
HP:0000486	Strabismus	8788	DLK1	ORPHA:254528
HP:0000486	Strabismus	55384	MEG3	ORPHA:254528
HP:0000486	Strabismus	3149	HMGB3	OMIM:300915
HP:0000486	Strabismus	64221	ROBO3	OMIM:607313
HP:0000486	Strabismus	55777	MBD5	OMIM:156200
HP:0000486	Strabismus	84992	PIGY	ORPHA:247262
HP:0000486	Strabismus	84720	PIGO	ORPHA:247262
HP:0000486	Strabismus	93210	PGAP3	ORPHA:247262
HP:0000486	Strabismus	284098	PIGW	ORPHA:247262
HP:0000486	Strabismus	55650	PIGV	ORPHA:247262
HP:0000486	Strabismus	9630	GNA14	ORPHA:1063
HP:0000486	Strabismus	64207	IRF2BPL	OMIM:618088
HP:0000486	Strabismus	29920	PYCR2	ORPHA:481152
HP:0000486	Strabismus	5422	POLA1	OMIM:301030
HP:0000486	Strabismus	10484	SEC23A	OMIM:607812
HP:0000486	Strabismus	84342	COG8	OMIM:611182
HP:0000486	Strabismus	55714	TENM3	OMIM:615145
HP:0000486	Strabismus	5144	PDE4D	ORPHA:439822
HP:0000486	Strabismus	26227	PHGDH	ORPHA:79351
HP:0000486	Strabismus	2743	GLRB	OMIM:614619
HP:0000486	Strabismus	8270	LAGE3	OMIM:301006
HP:0000486	Strabismus	8363	H4C11	OMIM:619759
HP:0000486	Strabismus	3211	HOXB1	OMIM:614744
HP:0000486	Strabismus	6507	SLC1A3	ORPHA:2131
HP:0000486	Strabismus	477	ATP1A2	ORPHA:2131
HP:0000486	Strabismus	1528	CYB5A	ORPHA:621
HP:0000486	Strabismus	2255	FGF10	OMIM:620193
HP:0000486	Strabismus	10682	EBP	OMIM:300960
HP:0000486	Strabismus	55210	ATAD3A	ORPHA:496790
HP:0000486	Strabismus	55210	ATAD3A	OMIM:617183
HP:0000486	Strabismus	84343	HPS3	OMIM:614072
HP:0000486	Strabismus	388552	BLOC1S3	OMIM:614077
HP:0000486	Strabismus	60482	SLC5A7	ORPHA:98914
HP:0000486	Strabismus	4649	MYO9A	ORPHA:98914
HP:0000486	Strabismus	1305	COL13A1	ORPHA:98914
HP:0000486	Strabismus	6576	SLC25A1	ORPHA:98914
HP:0000486	Strabismus	375790	AGRN	ORPHA:98914
HP:0000486	Strabismus	127833	SYT2	ORPHA:98914
HP:0000486	Strabismus	6572	SLC18A3	ORPHA:98914
HP:0000486	Strabismus	6616	SNAP25	ORPHA:98914
HP:0000486	Strabismus	471	ATIC	OMIM:608688
HP:0000486	Strabismus	84628	NTNG2	OMIM:618718
HP:0000486	Strabismus	5295	PIK3R1	OMIM:269880
HP:0000486	Strabismus	54802	TRIT1	OMIM:617873
HP:0000486	Strabismus	23154	NCDN	OMIM:619373
HP:0000486	Strabismus	55605	KIF21A	OMIM:135700
HP:0000486	Strabismus	1284	COL4A2	OMIM:614483
HP:0000486	Strabismus	83938	LRMDA	OMIM:615179
HP:0000486	Strabismus	11152	WDR45	OMIM:615179
HP:0000486	Strabismus	10210	TOPORS	ORPHA:2754
HP:0000486	Strabismus	26123	TCTN3	ORPHA:2754
HP:0000486	Strabismus	5147	PDE6D	ORPHA:2754
HP:0000486	Strabismus	8481	OFD1	ORPHA:2754
HP:0000486	Strabismus	9469	CHST3	OMIM:245600
HP:0000486	Strabismus	26229	B3GAT3	OMIM:245600
HP:0000486	Strabismus	129285	PPP1R21	OMIM:619383
HP:0000486	Strabismus	84148	KAT8	OMIM:618974
HP:0000486	Strabismus	4654	MYOD1	OMIM:618975
HP:0000486	Strabismus	6935	ZEB1	ORPHA:98973
HP:0000486	Strabismus	30813	VSX1	ORPHA:98973
HP:0000486	Strabismus	58495	OVOL2	ORPHA:98973
HP:0000486	Strabismus	79977	GRHL2	ORPHA:98973
HP:0000486	Strabismus	1296	COL8A2	ORPHA:98973
HP:0000486	Strabismus	6535	SLC6A8	OMIM:300352
HP:0000486	Strabismus	104	ADARB1	OMIM:618862
HP:0000486	Strabismus	79912	PYROXD1	OMIM:617258
HP:0000486	Strabismus	9227	LRAT	ORPHA:364055
HP:0000486	Strabismus	55812	SPATA7	ORPHA:364055
HP:0000486	Strabismus	6121	RPE65	ORPHA:364055
HP:0000486	Strabismus	167691	LCA5	ORPHA:364055
HP:0000486	Strabismus	6873	TAF2	ORPHA:397951
HP:0000486	Strabismus	36	ACADSB	OMIM:610006
HP:0000486	Strabismus	51651	PTRH2	ORPHA:456312
HP:0000486	Strabismus	51651	PTRH2	OMIM:616263
HP:0000486	Strabismus	3188	HNRNPH2	OMIM:300986
HP:0000486	Strabismus	2783	GNB2	OMIM:619503
HP:0000486	Strabismus	23268	DNMBP	OMIM:618415
HP:0000486	Strabismus	9419	CRIPT	OMIM:615789
HP:0000486	Strabismus	9997	SCO2	OMIM:604377
HP:0000486	Strabismus	9997	SCO2	ORPHA:521411
HP:0000486	Strabismus	1947	EFNB1	OMIM:304110
HP:0000486	Strabismus	149371	EXOC8	OMIM:619076
HP:0000486	Strabismus	94137	RP1L1	OMIM:618826
HP:0000486	Strabismus	9255	AIMP1	OMIM:260600
HP:0000486	Strabismus	90624	LYRM7	OMIM:615838
HP:0000486	Strabismus	1282	COL4A1	OMIM:175780
HP:0000486	Strabismus	6134	RPL10	ORPHA:459070
HP:0000486	Strabismus	283209	PGM2L1	OMIM:620191
HP:0000486	Strabismus	54880	BCOR	OMIM:300166
HP:0000486	Strabismus	26503	SLC17A5	OMIM:604369
HP:0000486	Strabismus	546	ATRX	OMIM:309580
HP:0000486	Strabismus	57479	PRR12	OMIM:619539
HP:0000486	Strabismus	4088	SMAD3	OMIM:613795
HP:0000486	Strabismus	7048	TGFBR2	OMIM:610168
HP:0000486	Strabismus	64802	NMNAT1	OMIM:619260
HP:0000486	Strabismus	3030	HADHA	ORPHA:5
HP:0000486	Strabismus	7046	TGFBR1	OMIM:609192
HP:0000486	Strabismus	1804	DPP6	ORPHA:2514
HP:0000486	Strabismus	4001	LMNB1	ORPHA:2514
HP:0000486	Strabismus	1185	CLCN6	OMIM:619173
HP:0000486	Strabismus	324	APC	ORPHA:99818
HP:0000486	Strabismus	92255	LMBRD2	OMIM:619694
HP:0000486	Strabismus	57007	ACKR3	OMIM:619215
HP:0000486	Strabismus	92002	CCNQ	OMIM:300707
HP:0000486	Strabismus	9969	MED13	OMIM:618009
HP:0000486	Strabismus	3198	HOXA1	OMIM:601536
HP:0000486	Strabismus	57178	ZMIZ1	OMIM:618659
HP:0000486	Strabismus	3781	KCNN2	OMIM:619724
HP:0000486	Strabismus	26012	NSMF	OMIM:614838
HP:0000486	Strabismus	16	AARS1	OMIM:619691
HP:0000486	Strabismus	11212	PLPBP	OMIM:617290
HP:0000486	Strabismus	85365	ALG2	OMIM:607906
HP:0000486	Strabismus	54517	PUS7	OMIM:618342
HP:0000486	Strabismus	5119	CHMP1A	OMIM:614961
HP:0000486	Strabismus	79797	ZNF408	OMIM:616468
HP:0000486	Strabismus	2186	BPTF	OMIM:617755
HP:0000486	Strabismus	9894	TELO2	ORPHA:488642
HP:0000486	Strabismus	55325	UFSP2	OMIM:620028
HP:0000486	Strabismus	10060	ABCC9	OMIM:619719
HP:0000486	Strabismus	55610	VPS50	OMIM:619685
HP:0000486	Strabismus	84842	HPDL	OMIM:619026
HP:0000486	Strabismus	5058	PAK1	OMIM:618158
HP:0000486	Strabismus	83479	DDX59	OMIM:174300
HP:0000486	Strabismus	55367	PIDD1	OMIM:619827
HP:0000486	Strabismus	1642	DDB1	OMIM:619426
HP:0000486	Strabismus	9382	COG1	OMIM:611209
HP:0000486	Strabismus	5297	PI4KA	OMIM:619708
HP:0000486	Strabismus	55343	SLC35C1	ORPHA:99843
HP:0000486	Strabismus	51116	MRPS2	OMIM:617950
HP:0000486	Strabismus	23327	NEDD4L	OMIM:617201
HP:0000486	Strabismus	478	ATP1A3	OMIM:619606
HP:0000486	Strabismus	2890	GRIA1	OMIM:619931
HP:0000486	Strabismus	3166	HMX1	OMIM:612109
HP:0000486	Strabismus	51102	MECR	OMIM:617282
HP:0000486	Strabismus	51102	MECR	ORPHA:508093
HP:0000486	Strabismus	401	PHOX2A	OMIM:602078
HP:0000486	Strabismus	4617	MYF5	OMIM:618155
HP:0000486	Strabismus	6297	SALL2	OMIM:216820
HP:0000486	Strabismus	51506	UFC1	OMIM:618076
HP:0000486	Strabismus	2590	GALNT2	OMIM:618885
HP:0000486	Strabismus	224	ALDH3A2	OMIM:270200
HP:0000488	Retinopathy	3767	KCNJ11	ORPHA:552
HP:0000488	Retinopathy	3767	KCNJ11	ORPHA:99885
HP:0000488	Retinopathy	8462	KLF11	ORPHA:552
HP:0000488	Retinopathy	2645	GCK	ORPHA:552
HP:0000488	Retinopathy	2645	GCK	ORPHA:99885
HP:0000488	Retinopathy	26060	APPL1	ORPHA:552
HP:0000488	Retinopathy	640	BLK	ORPHA:552
HP:0000488	Retinopathy	1056	CEL	ORPHA:552
HP:0000488	Retinopathy	4760	NEUROD1	ORPHA:552
HP:0000488	Retinopathy	3651	PDX1	ORPHA:552
HP:0000488	Retinopathy	3651	PDX1	ORPHA:99885
HP:0000488	Retinopathy	6833	ABCC8	ORPHA:552
HP:0000488	Retinopathy	6833	ABCC8	ORPHA:99885
HP:0000488	Retinopathy	5078	PAX4	ORPHA:552
HP:0000488	Retinopathy	3172	HNF4A	ORPHA:552
HP:0000488	Retinopathy	6927	HNF1A	ORPHA:552
HP:0000488	Retinopathy	3630	INS	ORPHA:552
HP:0000488	Retinopathy	3630	INS	ORPHA:99885
HP:0000488	Retinopathy	1497	CTNS	OMIM:219800
HP:0000488	Retinopathy	1497	CTNS	OMIM:219900
HP:0000488	Retinopathy	4547	MTTP	OMIM:200100
HP:0000488	Retinopathy	95681	CEP41	OMIM:614464
HP:0000488	Retinopathy	189	AGXT	OMIM:259900
HP:0000488	Retinopathy	1355	COX15	OMIM:615119
HP:0000488	Retinopathy	79848	CSPP1	OMIM:615636
HP:0000488	Retinopathy	1493	CTLA4	ORPHA:900
HP:0000488	Retinopathy	26191	PTPN22	ORPHA:900
HP:0000488	Retinopathy	3115	HLA-DPB1	ORPHA:900
HP:0000488	Retinopathy	5657	PRTN3	ORPHA:900
HP:0000488	Retinopathy	3113	HLA-DPA1	ORPHA:900
HP:0000488	Retinopathy	3425	IDUA	ORPHA:93473
HP:0000488	Retinopathy	5627	PROS1	ORPHA:743
HP:0000488	Retinopathy	4567	MT-TL1	ORPHA:225
HP:0000488	Retinopathy	4556	MT-TE	ORPHA:225
HP:0000488	Retinopathy	4566	MT-TK	ORPHA:225
HP:0000488	Retinopathy	3043	HBB	ORPHA:251380
HP:0000488	Retinopathy	3043	HBB	OMIM:603903
HP:0000488	Retinopathy	53335	BCL11A	ORPHA:251380
HP:0000488	Retinopathy	10661	KLF1	ORPHA:251380
HP:0000488	Retinopathy	3047	HBG1	ORPHA:251380
HP:0000488	Retinopathy	3048	HBG2	ORPHA:251380
HP:0000488	Retinopathy	25915	NDUFAF3	ORPHA:70474
HP:0000488	Retinopathy	4714	NDUFB8	ORPHA:70474
HP:0000488	Retinopathy	4720	NDUFS2	ORPHA:70474
HP:0000488	Retinopathy	9997	SCO2	ORPHA:70474
HP:0000488	Retinopathy	6834	SURF1	ORPHA:70474
HP:0000488	Retinopathy	10733	PLK4	OMIM:616171
HP:0000488	Retinopathy	1387	CREBBP	ORPHA:353281
HP:0000488	Retinopathy	25828	TXN2	ORPHA:478029
HP:0000488	Retinopathy	25828	TXN2	OMIM:616811
HP:0000488	Retinopathy	3832	KIF11	ORPHA:2526
HP:0000488	Retinopathy	2068	ERCC2	ORPHA:220295
HP:0000488	Retinopathy	2073	ERCC5	ORPHA:220295
HP:0000488	Retinopathy	2072	ERCC4	ORPHA:220295
HP:0000488	Retinopathy	2071	ERCC3	ORPHA:220295
HP:0000488	Retinopathy	224	ALDH3A2	ORPHA:816
HP:0000488	Retinopathy	8314	BAP1	ORPHA:618
HP:0000488	Retinopathy	4286	MITF	ORPHA:618
HP:0000488	Retinopathy	1019	CDK4	ORPHA:618
HP:0000488	Retinopathy	4255	MGMT	ORPHA:618
HP:0000488	Retinopathy	54386	TERF2IP	ORPHA:618
HP:0000488	Retinopathy	4157	MC1R	ORPHA:618
HP:0000488	Retinopathy	65057	ACD	ORPHA:618
HP:0000488	Retinopathy	1029	CDKN2A	ORPHA:618
HP:0000488	Retinopathy	7015	TERT	ORPHA:618
HP:0000488	Retinopathy	25913	POT1	ORPHA:618
HP:0000488	Retinopathy	1030	CDKN2B	ORPHA:618
HP:0000488	Retinopathy	256471	MFSD8	OMIM:610951
HP:0000488	Retinopathy	51128	SAR1B	ORPHA:71
HP:0000488	Retinopathy	4758	NEU1	ORPHA:812
HP:0000488	Retinopathy	57192	MCOLN1	ORPHA:578
HP:0000488	Retinopathy	6774	STAT3	ORPHA:99885
HP:0000488	Retinopathy	3423	IDS	ORPHA:217093
HP:0000488	Retinopathy	3423	IDS	ORPHA:217085
HP:0000488	Retinopathy	5264	PHYH	ORPHA:773
HP:0000488	Retinopathy	5191	PEX7	ORPHA:773
HP:0000488	Retinopathy	8813	DPM1	OMIM:608799
HP:0000488	Retinopathy	8813	DPM1	ORPHA:79322
HP:0000488	Retinopathy	348	APOE	ORPHA:158029
HP:0000488	Retinopathy	80025	PANK2	ORPHA:216873
HP:0000488	Retinopathy	2260	FGFR1	ORPHA:2396
HP:0000488	Retinopathy	3845	KRAS	ORPHA:2396
HP:0000488	Retinopathy	3643	INSR	ORPHA:769
HP:0000488	Retinopathy	3593	IL12B	ORPHA:3287
HP:0000488	Retinopathy	3106	HLA-B	ORPHA:3287
HP:0000488	Retinopathy	3106	HLA-B	ORPHA:117
HP:0000488	Retinopathy	6945	MLX	ORPHA:3287
HP:0000488	Retinopathy	64127	NOD2	ORPHA:90340
HP:0000488	Retinopathy	79053	ALG8	ORPHA:79325
HP:0000488	Retinopathy	4508	MT-ATP6	OMIM:551500
HP:0000488	Retinopathy	5727	PTCH1	ORPHA:77301
HP:0000488	Retinopathy	4982	TNFRSF11B	OMIM:239000
HP:0000488	Retinopathy	641	BLM	ORPHA:125
HP:0000488	Retinopathy	3030	HADHA	ORPHA:5
HP:0000488	Retinopathy	10815	CPLX1	ORPHA:280
HP:0000488	Retinopathy	54872	PIGG	ORPHA:280
HP:0000488	Retinopathy	7469	NELFA	ORPHA:280
HP:0000488	Retinopathy	1487	CTBP1	ORPHA:280
HP:0000488	Retinopathy	3954	LETM1	ORPHA:280
HP:0000488	Retinopathy	7468	NSD2	ORPHA:280
HP:0000488	Retinopathy	10533	ATG7	OMIM:619422
HP:0000488	Retinopathy	27077	B9D1	OMIM:617120
HP:0000488	Retinopathy	375056	MIA3	OMIM:619269
HP:0000488	Retinopathy	84314	TMEM107	OMIM:617563
HP:0000488	Retinopathy	84314	TMEM107	OMIM:617562
HP:0000488	Retinopathy	9907	AP5Z1	ORPHA:306511
HP:0000488	Retinopathy	9907	AP5Z1	OMIM:613647
HP:0000488	Retinopathy	1301	COL11A1	ORPHA:90654
HP:0000488	Retinopathy	79583	TMEM231	OMIM:614970
HP:0000488	Retinopathy	203068	TUBB	ORPHA:2505
HP:0000488	Retinopathy	10982	MAPRE2	ORPHA:2505
HP:0000488	Retinopathy	22954	TRIM32	OMIM:615988
HP:0000488	Retinopathy	58497	PRUNE1	ORPHA:544469
HP:0000488	Retinopathy	5167	ENPP1	ORPHA:758
HP:0000488	Retinopathy	368	ABCC6	ORPHA:758
HP:0000488	Retinopathy	79158	GNPTAB	OMIM:252600
HP:0000488	Retinopathy	4644	MYO5A	ORPHA:79476
HP:0000488	Retinopathy	114902	C1QTNF5	OMIM:605670
HP:0000488	Retinopathy	149233	IL23R	ORPHA:117
HP:0000488	Retinopathy	6775	STAT4	ORPHA:117
HP:0000488	Retinopathy	3586	IL10	ORPHA:117
HP:0000488	Retinopathy	4210	MEFV	ORPHA:117
HP:0000488	Retinopathy	1230	CCR1	ORPHA:117
HP:0000488	Retinopathy	355	FAS	ORPHA:117
HP:0000488	Retinopathy	3592	IL12A	ORPHA:117
HP:0000488	Retinopathy	101928376	IL12A-AS1	ORPHA:117
HP:0000488	Retinopathy	7099	TLR4	ORPHA:117
HP:0000488	Retinopathy	3459	IFNGR1	ORPHA:117
HP:0000488	Retinopathy	720	C4A	ORPHA:117
HP:0000488	Retinopathy	337867	UBAC2	ORPHA:117
HP:0000488	Retinopathy	51752	ERAP1	ORPHA:117
HP:0000488	Retinopathy	8302	KLRC4	ORPHA:117
HP:0000488	Retinopathy	1001	CDH3	ORPHA:1897
HP:0000488	Retinopathy	55901	THSD1	OMIM:620244
HP:0007648	Punctate cataract	10484	SEC23A	OMIM:607812
HP:0007648	Punctate cataract	4094	MAF	OMIM:610202
HP:0007648	Punctate cataract	3982	LIM2	OMIM:615277
HP:0007648	Punctate cataract	84816	RTN4IP1	OMIM:616732
HP:0007648	Punctate cataract	80207	OPA3	ORPHA:67036
HP:0007648	Punctate cataract	3299	HSF4	OMIM:116800
HP:0007648	Punctate cataract	2512	FTL	OMIM:600886
HP:0007648	Punctate cataract	7439	BEST1	OMIM:193220
HP:0007648	Punctate cataract	1414	CRYBB1	OMIM:611544
HP:0007648	Punctate cataract	2703	GJA8	OMIM:116200
HP:0007648	Punctate cataract	7431	VIM	OMIM:116300
HP:0007648	Punctate cataract	2702	GJA5	OMIM:612474
HP:0007648	Punctate cataract	1420	CRYGC	OMIM:604307
HP:0007648	Punctate cataract	1415	CRYBB2	OMIM:601547
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	4595	MUTYH	ORPHA:247798
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	OMIM:175100
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:247806
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:261584
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:79665
HP:0007646	Absent lower eyelashes	117581	TWIST2	OMIM:227260
HP:0007646	Absent lower eyelashes	10262	SF3B4	OMIM:154400
HP:0200085	Limb tremor	10382	TUBB4A	ORPHA:98805
HP:0200085	Limb tremor	8398	PLA2G6	OMIM:612953
HP:0200085	Limb tremor	1293	COL6A3	ORPHA:464440
HP:0200085	Limb tremor	3708	ITPR1	ORPHA:98769
HP:0200085	Limb tremor	8913	CACNA1G	ORPHA:458803
HP:0200085	Limb tremor	79587	CARS2	ORPHA:477774
HP:0200085	Limb tremor	4001	LMNB1	ORPHA:99027
HP:0200085	Limb tremor	63982	ANO3	ORPHA:420485
HP:0200085	Limb tremor	4359	MPZ	OMIM:180800
HP:0200085	Limb tremor	5376	PMP22	OMIM:180800
HP:0200085	Limb tremor	25792	CIZ1	ORPHA:420492
HP:0200085	Limb tremor	1203	CLN5	OMIM:256731
HP:0200085	Limb tremor	9409	PEX16	OMIM:614877
HP:0200085	Limb tremor	3704	ITPA	OMIM:616647
HP:0200085	Limb tremor	80055	PGAP1	ORPHA:401820
HP:0200085	Limb tremor	1644	DDC	OMIM:608643
HP:0200085	Limb tremor	2892	GRIA3	OMIM:300699
HP:0200085	Limb tremor	6638	SNRPN	OMIM:105830
HP:0200085	Limb tremor	7337	UBE3A	OMIM:105830
HP:0200085	Limb tremor	9578	CDC42BPB	OMIM:619841
HP:0200085	Limb tremor	9990	SLC12A6	OMIM:218000
HP:0200094	Frontal open bite	9509	ADAMTS2	OMIM:225410
HP:0200098	Absent skin pigmentation	3815	KIT	OMIM:172800
HP:0200098	Absent skin pigmentation	7299	TYR	OMIM:203100
HP:0200098	Absent skin pigmentation	4157	MC1R	ORPHA:79432
HP:0200098	Absent skin pigmentation	4948	OCA2	ORPHA:79432
HP:0200098	Absent skin pigmentation	7306	TYRP1	ORPHA:79433
HP:0200097	Oral mucosal blisters	3861	KRT14	OMIM:601001
HP:0200097	Oral mucosal blisters	3861	KRT14	ORPHA:89838
HP:0200097	Oral mucosal blisters	3861	KRT14	OMIM:131760
HP:0200097	Oral mucosal blisters	3861	KRT14	ORPHA:79400
HP:0200097	Oral mucosal blisters	3861	KRT14	OMIM:131900
HP:0200097	Oral mucosal blisters	3861	KRT14	ORPHA:79396
HP:0200097	Oral mucosal blisters	3861	KRT14	ORPHA:79397
HP:0200097	Oral mucosal blisters	3861	KRT14	ORPHA:79399
HP:0200097	Oral mucosal blisters	3852	KRT5	OMIM:619555
HP:0200097	Oral mucosal blisters	3852	KRT5	OMIM:619599
HP:0200097	Oral mucosal blisters	3852	KRT5	OMIM:131760
HP:0200097	Oral mucosal blisters	3852	KRT5	ORPHA:158681
HP:0200097	Oral mucosal blisters	3852	KRT5	ORPHA:79400
HP:0200097	Oral mucosal blisters	3852	KRT5	ORPHA:79396
HP:0200097	Oral mucosal blisters	3852	KRT5	ORPHA:79397
HP:0200097	Oral mucosal blisters	3852	KRT5	ORPHA:79399
HP:0200097	Oral mucosal blisters	5339	PLEC	OMIM:226730
HP:0200097	Oral mucosal blisters	5339	PLEC	ORPHA:158684
HP:0200097	Oral mucosal blisters	3691	ITGB4	OMIM:226730
HP:0200097	Oral mucosal blisters	3691	ITGB4	ORPHA:158684
HP:0200097	Oral mucosal blisters	3691	ITGB4	ORPHA:79402
HP:0200097	Oral mucosal blisters	3691	ITGB4	ORPHA:79403
HP:0200097	Oral mucosal blisters	3914	LAMB3	OMIM:226650
HP:0200097	Oral mucosal blisters	3914	LAMB3	ORPHA:79402
HP:0200097	Oral mucosal blisters	3655	ITGA6	OMIM:619817
HP:0200097	Oral mucosal blisters	3655	ITGA6	ORPHA:79403
HP:0200097	Oral mucosal blisters	3909	LAMA3	ORPHA:79402
HP:0200097	Oral mucosal blisters	3909	LAMA3	OMIM:619784
HP:0200097	Oral mucosal blisters	3909	LAMA3	OMIM:619783
HP:0200097	Oral mucosal blisters	1308	COL17A1	ORPHA:79402
HP:0200097	Oral mucosal blisters	1308	COL17A1	ORPHA:79406
HP:0200097	Oral mucosal blisters	3918	LAMC2	ORPHA:79402
HP:0200097	Oral mucosal blisters	3918	LAMC2	OMIM:619785
HP:0200097	Oral mucosal blisters	3918	LAMC2	OMIM:619786
HP:0200097	Oral mucosal blisters	1294	COL7A1	OMIM:132000
HP:0200097	Oral mucosal blisters	1294	COL7A1	ORPHA:79408
HP:0200097	Oral mucosal blisters	1294	COL7A1	ORPHA:79409
HP:0200097	Oral mucosal blisters	1294	COL7A1	OMIM:226600
HP:0200097	Oral mucosal blisters	1294	COL7A1	ORPHA:231568
HP:0200097	Oral mucosal blisters	1294	COL7A1	ORPHA:79410
HP:0200097	Oral mucosal blisters	1294	COL7A1	ORPHA:79411
HP:0200097	Oral mucosal blisters	4312	MMP1	ORPHA:79408
HP:0200097	Oral mucosal blisters	4312	MMP1	OMIM:226600
HP:0200097	Oral mucosal blisters	1830	DSG3	OMIM:619226
HP:0033503	Elevated CSF fumarate concentration	1327	COX4I1	OMIM:619060
HP:0033504	Elevated circulating fumarate concentration	7385	UQCRC2	OMIM:615160
HP:0033505	Livedo reticularis	23590	PDSS1	OMIM:614651
HP:0033505	Livedo reticularis	51816	ADA2	OMIM:182410
HP:0033505	Livedo reticularis	340061	STING1	OMIM:615934
HP:0033505	Livedo reticularis	4629	MYH11	OMIM:132900
HP:0033505	Livedo reticularis	59	ACTA2	OMIM:611788
HP:0033505	Livedo reticularis	2982	GUCY1A1	OMIM:615750
HP:0000490	Deeply set eye	2137	EXTL3	ORPHA:508533
HP:0000490	Deeply set eye	2294	FOXF1	OMIM:265380
HP:0000490	Deeply set eye	4621	MYH3	ORPHA:2053
HP:0000490	Deeply set eye	4621	MYH3	OMIM:193700
HP:0000490	Deeply set eye	259232	NALCN	ORPHA:2053
HP:0000490	Deeply set eye	8367	H4C5	OMIM:619950
HP:0000490	Deeply set eye	1161	ERCC8	ORPHA:90324
HP:0000490	Deeply set eye	1161	ERCC8	ORPHA:90321
HP:0000490	Deeply set eye	1161	ERCC8	OMIM:216400
HP:0000490	Deeply set eye	2074	ERCC6	ORPHA:90324
HP:0000490	Deeply set eye	2074	ERCC6	ORPHA:90321
HP:0000490	Deeply set eye	2074	ERCC6	OMIM:214150
HP:0000490	Deeply set eye	2074	ERCC6	OMIM:133540
HP:0000490	Deeply set eye	10059	DNM1L	OMIM:614388
HP:0000490	Deeply set eye	91801	ALKBH8	OMIM:618504
HP:0000490	Deeply set eye	10274	STAG1	ORPHA:502434
HP:0000490	Deeply set eye	10274	STAG1	OMIM:617635
HP:0000490	Deeply set eye	5457	POU4F1	ORPHA:314647
HP:0000490	Deeply set eye	23261	CAMTA1	ORPHA:314647
HP:0000490	Deeply set eye	9839	ZEB2	OMIM:235730
HP:0000490	Deeply set eye	9839	ZEB2	ORPHA:261552
HP:0000490	Deeply set eye	9839	ZEB2	ORPHA:261537
HP:0000490	Deeply set eye	91147	TMEM67	OMIM:602152
HP:0000490	Deeply set eye	91147	TMEM67	ORPHA:140976
HP:0000490	Deeply set eye	2072	ERCC4	ORPHA:90321
HP:0000490	Deeply set eye	2072	ERCC4	OMIM:610965
HP:0000490	Deeply set eye	2072	ERCC4	OMIM:278760
HP:0000490	Deeply set eye	4983	OPHN1	OMIM:300486
HP:0000490	Deeply set eye	4983	OPHN1	ORPHA:137831
HP:0000490	Deeply set eye	116931	MED12L	OMIM:618872
HP:0000490	Deeply set eye	3020	H3-3A	OMIM:619720
HP:0000490	Deeply set eye	613	BCR	ORPHA:261330
HP:0000490	Deeply set eye	1399	CRKL	ORPHA:261330
HP:0000490	Deeply set eye	5594	MAPK1	ORPHA:261330
HP:0000490	Deeply set eye	80816	ASXL3	OMIM:615485
HP:0000490	Deeply set eye	27245	AHDC1	ORPHA:412069
HP:0000490	Deeply set eye	22858	CILK1	OMIM:612651
HP:0000490	Deeply set eye	55904	KMT2E	OMIM:618512
HP:0000490	Deeply set eye	80055	PGAP1	OMIM:615802
HP:0000490	Deeply set eye	129563	DIS3L2	ORPHA:2849
HP:0000490	Deeply set eye	2314	FLII	ORPHA:819
HP:0000490	Deeply set eye	23096	IQSEC2	ORPHA:819
HP:0000490	Deeply set eye	10743	RAI1	ORPHA:819
HP:0000490	Deeply set eye	10743	RAI1	OMIM:182290
HP:0000490	Deeply set eye	10522	DEAF1	ORPHA:819
HP:0000490	Deeply set eye	10847	SRCAP	ORPHA:2044
HP:0000490	Deeply set eye	10847	SRCAP	OMIM:136140
HP:0000490	Deeply set eye	28960	DCPS	OMIM:616459
HP:0000490	Deeply set eye	9915	ARNT2	OMIM:615926
HP:0000490	Deeply set eye	10559	SLC35A1	OMIM:603585
HP:0000490	Deeply set eye	28958	COA3	OMIM:619058
HP:0000490	Deeply set eye	2892	GRIA3	OMIM:300699
HP:0000490	Deeply set eye	2892	GRIA3	ORPHA:364028
HP:0000490	Deeply set eye	1351	COX8A	OMIM:619059
HP:0000490	Deeply set eye	55870	ASH1L	OMIM:617796
HP:0000490	Deeply set eye	8913	CACNA1G	OMIM:618087
HP:0000490	Deeply set eye	9739	SETD1A	OMIM:619056
HP:0000490	Deeply set eye	80204	FBXO11	OMIM:618089
HP:0000490	Deeply set eye	816	CAMK2B	OMIM:617799
HP:0000490	Deeply set eye	93627	TBCK	OMIM:616900
HP:0000490	Deeply set eye	93627	TBCK	ORPHA:488632
HP:0000490	Deeply set eye	79184	BRCC3	ORPHA:280679
HP:0000490	Deeply set eye	10015	PDCD6IP	OMIM:620047
HP:0000490	Deeply set eye	2697	GJA1	ORPHA:2710
HP:0000490	Deeply set eye	2697	GJA1	OMIM:257850
HP:0000490	Deeply set eye	2626	GATA4	ORPHA:251071
HP:0000490	Deeply set eye	23116	TOGARAM1	OMIM:619185
HP:0000490	Deeply set eye	9377	COX5A	OMIM:619064
HP:0000490	Deeply set eye	6872	TAF1	ORPHA:480907
HP:0000490	Deeply set eye	6872	TAF1	OMIM:300966
HP:0000490	Deeply set eye	57531	HACE1	ORPHA:464282
HP:0000490	Deeply set eye	1281	COL3A1	ORPHA:286
HP:0000490	Deeply set eye	1281	COL3A1	OMIM:618343
HP:0000490	Deeply set eye	4212	MEIS2	OMIM:600987
HP:0000490	Deeply set eye	4212	MEIS2	ORPHA:261190
HP:0000490	Deeply set eye	5528	PPP2R5D	OMIM:616355
HP:0000490	Deeply set eye	23327	NEDD4L	OMIM:617201
HP:0000490	Deeply set eye	132158	GLYCTK	OMIM:220120
HP:0000490	Deeply set eye	833	CARS1	OMIM:618891
HP:0000490	Deeply set eye	2783	GNB2	OMIM:619503
HP:0000490	Deeply set eye	26057	ANKRD17	OMIM:619504
HP:0000490	Deeply set eye	25942	SIN3A	OMIM:613406
HP:0000490	Deeply set eye	54496	PRMT7	ORPHA:464288
HP:0000490	Deeply set eye	54496	PRMT7	OMIM:617157
HP:0000490	Deeply set eye	2200	FBN1	OMIM:616914
HP:0000490	Deeply set eye	2200	FBN1	ORPHA:284979
HP:0000490	Deeply set eye	2200	FBN1	OMIM:154700
HP:0000490	Deeply set eye	57167	SALL4	ORPHA:233
HP:0000490	Deeply set eye	9935	MAFB	ORPHA:233
HP:0000490	Deeply set eye	1123	CHN1	ORPHA:233
HP:0000490	Deeply set eye	4953	ODC1	OMIM:619075
HP:0000490	Deeply set eye	4953	ODC1	ORPHA:544488
HP:0000490	Deeply set eye	10801	SEPTIN9	OMIM:162100
HP:0000490	Deeply set eye	7840	ALMS1	ORPHA:64
HP:0000490	Deeply set eye	6792	CDKL5	OMIM:300672
HP:0000490	Deeply set eye	6792	CDKL5	ORPHA:505652
HP:0000490	Deeply set eye	253738	EBF3	OMIM:617330
HP:0000490	Deeply set eye	6905	TBCE	OMIM:241410
HP:0000490	Deeply set eye	6905	TBCE	ORPHA:2323
HP:0000490	Deeply set eye	57498	KIDINS220	ORPHA:521390
HP:0000490	Deeply set eye	57498	KIDINS220	OMIM:617296
HP:0000490	Deeply set eye	5063	PAK3	OMIM:300558
HP:0000490	Deeply set eye	55699	IARS2	OMIM:616007
HP:0000490	Deeply set eye	4803	NGF	ORPHA:64752
HP:0000490	Deeply set eye	4914	NTRK1	ORPHA:64752
HP:0000490	Deeply set eye	5290	PIK3CA	ORPHA:60040
HP:0000490	Deeply set eye	5590	PRKCZ	ORPHA:1606
HP:0000490	Deeply set eye	2563	GABRD	ORPHA:1606
HP:0000490	Deeply set eye	23013	SPEN	ORPHA:1606
HP:0000490	Deeply set eye	23013	SPEN	OMIM:619312
HP:0000490	Deeply set eye	8510	MMP23B	ORPHA:1606
HP:0000490	Deeply set eye	7798	LUZP1	ORPHA:1606
HP:0000490	Deeply set eye	6497	SKI	ORPHA:1606
HP:0000490	Deeply set eye	10630	PDPN	ORPHA:1606
HP:0000490	Deeply set eye	3339	HSPG2	ORPHA:1606
HP:0000490	Deeply set eye	10277	UBE4B	ORPHA:1606
HP:0000490	Deeply set eye	8514	KCNAB2	ORPHA:1606
HP:0000490	Deeply set eye	473	RERE	ORPHA:1606
HP:0000490	Deeply set eye	473	RERE	OMIM:616975
HP:0000490	Deeply set eye	63976	PRDM16	ORPHA:1606
HP:0000490	Deeply set eye	54897	CASZ1	ORPHA:1606
HP:0000490	Deeply set eye	10056	FARSB	OMIM:613658
HP:0000490	Deeply set eye	4784	NFIX	ORPHA:420179
HP:0000490	Deeply set eye	6638	SNRPN	OMIM:105830
HP:0000490	Deeply set eye	6638	SNRPN	ORPHA:177907
HP:0000490	Deeply set eye	7337	UBE3A	OMIM:105830
HP:0000490	Deeply set eye	11128	POLR3A	OMIM:264090
HP:0000490	Deeply set eye	11128	POLR3A	ORPHA:447896
HP:0000490	Deeply set eye	11128	POLR3A	ORPHA:3455
HP:0000490	Deeply set eye	1859	DYRK1A	ORPHA:464311
HP:0000490	Deeply set eye	1859	DYRK1A	ORPHA:268261
HP:0000490	Deeply set eye	1859	DYRK1A	OMIM:614104
HP:0000490	Deeply set eye	84992	PIGY	OMIM:616809
HP:0000490	Deeply set eye	145258	GSC	OMIM:602471
HP:0000490	Deeply set eye	79759	ZNF668	OMIM:620194
HP:0000490	Deeply set eye	51611	DPH5	OMIM:620070
HP:0000490	Deeply set eye	79718	TBL1XR1	OMIM:602342
HP:0000490	Deeply set eye	79718	TBL1XR1	ORPHA:487825
HP:0000490	Deeply set eye	79228	THOC6	ORPHA:363444
HP:0000490	Deeply set eye	79228	THOC6	OMIM:613680
HP:0000490	Deeply set eye	55210	ATAD3A	ORPHA:496790
HP:0000490	Deeply set eye	55210	ATAD3A	OMIM:617183
HP:0000490	Deeply set eye	57459	GATAD2B	ORPHA:363686
HP:0000490	Deeply set eye	57459	GATAD2B	OMIM:615074
HP:0000490	Deeply set eye	26137	ZBTB20	OMIM:259050
HP:0000490	Deeply set eye	8314	BAP1	OMIM:619762
HP:0000490	Deeply set eye	4089	SMAD4	OMIM:139210
HP:0000490	Deeply set eye	253959	RALGAPA1	OMIM:618797
HP:0000490	Deeply set eye	7358	UGDH	OMIM:618792
HP:0000490	Deeply set eye	4849	CNOT3	OMIM:618672
HP:0000490	Deeply set eye	6942	TCF20	OMIM:618430
HP:0000490	Deeply set eye	81887	LAS1L	ORPHA:3459
HP:0000490	Deeply set eye	55869	HDAC8	ORPHA:3459
HP:0000490	Deeply set eye	55869	HDAC8	OMIM:300882
HP:0000490	Deeply set eye	4285	MIPEP	OMIM:617228
HP:0000490	Deeply set eye	9158	FIBP	OMIM:617107
HP:0000490	Deeply set eye	9158	FIBP	ORPHA:500095
HP:0000490	Deeply set eye	5591	PRKDC	OMIM:615966
HP:0000490	Deeply set eye	182	JAG1	OMIM:118450
HP:0000490	Deeply set eye	63895	PIEZO2	ORPHA:1154
HP:0000490	Deeply set eye	63895	PIEZO2	OMIM:108145
HP:0000490	Deeply set eye	9772	TMEM94	OMIM:618316
HP:0000490	Deeply set eye	6901	TAFAZZIN	OMIM:302060
HP:0000490	Deeply set eye	388015	RTL1	ORPHA:96334
HP:0000490	Deeply set eye	8788	DLK1	ORPHA:96334
HP:0000490	Deeply set eye	55384	MEG3	ORPHA:96334
HP:0000490	Deeply set eye	6714	SRC	OMIM:616937
HP:0000490	Deeply set eye	6925	TCF4	OMIM:610954
HP:0000490	Deeply set eye	6925	TCF4	ORPHA:2896
HP:0000490	Deeply set eye	5354	PLP1	ORPHA:280229
HP:0000490	Deeply set eye	23065	EMC1	ORPHA:480898
HP:0000490	Deeply set eye	23065	EMC1	OMIM:616875
HP:0000490	Deeply set eye	23314	SATB2	ORPHA:576283
HP:0000490	Deeply set eye	23314	SATB2	ORPHA:251028
HP:0000490	Deeply set eye	4208	MEF2C	ORPHA:228384
HP:0000490	Deeply set eye	4208	MEF2C	OMIM:613443
HP:0000490	Deeply set eye	51322	WAC	ORPHA:284169
HP:0000490	Deeply set eye	51322	WAC	OMIM:616708
HP:0000490	Deeply set eye	51322	WAC	ORPHA:466950
HP:0000490	Deeply set eye	5295	PIK3R1	OMIM:269880
HP:0000490	Deeply set eye	5295	PIK3R1	ORPHA:3163
HP:0000490	Deeply set eye	8242	KDM5C	OMIM:300534
HP:0000490	Deeply set eye	8242	KDM5C	ORPHA:85279
HP:0000490	Deeply set eye	23162	MAPK8IP3	OMIM:618443
HP:0000490	Deeply set eye	79989	IFT56	OMIM:619534
HP:0000490	Deeply set eye	9319	TRIP13	OMIM:617598
HP:0000490	Deeply set eye	57479	PRR12	OMIM:619539
HP:0000490	Deeply set eye	8565	YARS1	OMIM:619418
HP:0000490	Deeply set eye	729920	CRPPA	OMIM:614643
HP:0000490	Deeply set eye	7994	KAT6A	OMIM:616268
HP:0000490	Deeply set eye	51574	LARP7	ORPHA:319671
HP:0000490	Deeply set eye	51574	LARP7	OMIM:615071
HP:0000490	Deeply set eye	79791	FBXO31	OMIM:615979
HP:0000490	Deeply set eye	1487	CTBP1	OMIM:617915
HP:0000490	Deeply set eye	84295	PHF6	ORPHA:127
HP:0000490	Deeply set eye	84295	PHF6	OMIM:301900
HP:0000490	Deeply set eye	84876	ORAI1	ORPHA:3204
HP:0000490	Deeply set eye	6786	STIM1	ORPHA:3204
HP:0000490	Deeply set eye	6786	STIM1	OMIM:185070
HP:0000490	Deeply set eye	1387	CREBBP	OMIM:618332
HP:0000490	Deeply set eye	1387	CREBBP	OMIM:180849
HP:0000490	Deeply set eye	8295	TRRAP	OMIM:618454
HP:0000490	Deeply set eye	1917	EEF1A2	OMIM:616393
HP:0000490	Deeply set eye	55212	BBS7	OMIM:615984
HP:0000490	Deeply set eye	2702	GJA5	OMIM:612474
HP:0000490	Deeply set eye	2703	GJA8	OMIM:612474
HP:0000490	Deeply set eye	81603	TRIM8	OMIM:619428
HP:0000490	Deeply set eye	8905	AP1S2	OMIM:304340
HP:0000490	Deeply set eye	3720	JARID2	OMIM:620098
HP:0000490	Deeply set eye	10075	HUWE1	OMIM:309590
HP:0000490	Deeply set eye	55906	ZC4H2	OMIM:301041
HP:0000490	Deeply set eye	8243	SMC1A	OMIM:301044
HP:0000490	Deeply set eye	27238	GPKOW	ORPHA:2570
HP:0000490	Deeply set eye	56896	DPYSL5	OMIM:619435
HP:0000490	Deeply set eye	54517	PUS7	OMIM:618342
HP:0000490	Deeply set eye	9759	HDAC4	ORPHA:1001
HP:0000490	Deeply set eye	9759	HDAC4	OMIM:600430
HP:0000490	Deeply set eye	65062	TMEM237	OMIM:614424
HP:0000490	Deeply set eye	85358	SHANK3	OMIM:606232
HP:0000490	Deeply set eye	85358	SHANK3	ORPHA:48652
HP:0000490	Deeply set eye	128869	PIGU	OMIM:618590
HP:0000490	Deeply set eye	5631	PRPS1	ORPHA:423479
HP:0000490	Deeply set eye	29998	BICRA	OMIM:619325
HP:0000490	Deeply set eye	6651	SON	OMIM:617140
HP:0000490	Deeply set eye	6651	SON	ORPHA:500150
HP:0000490	Deeply set eye	57520	HECW2	OMIM:617268
HP:0000490	Deeply set eye	8882	ZPR1	OMIM:619321
HP:0000490	Deeply set eye	5831	PYCR1	OMIM:614438
HP:0000490	Deeply set eye	5831	PYCR1	OMIM:612940
HP:0000490	Deeply set eye	5339	PLEC	OMIM:612138
HP:0000490	Deeply set eye	1289	COL5A1	OMIM:619329
HP:0000490	Deeply set eye	2068	ERCC2	OMIM:610756
HP:0000490	Deeply set eye	4952	OCRL	ORPHA:534
HP:0000490	Deeply set eye	2067	ERCC1	OMIM:610758
HP:0000490	Deeply set eye	84679	SLC9A7	OMIM:301024
HP:0000490	Deeply set eye	90161	HS6ST2	OMIM:301025
HP:0000490	Deeply set eye	1725	DHPS	OMIM:618480
HP:0000490	Deeply set eye	23221	RHOBTB2	OMIM:618004
HP:0000490	Deeply set eye	22930	RAB3GAP1	OMIM:600118
HP:0000490	Deeply set eye	8831	SYNGAP1	ORPHA:544254
HP:0000490	Deeply set eye	8260	NAA10	OMIM:300855
HP:0000490	Deeply set eye	6774	STAT3	ORPHA:2314
HP:0000490	Deeply set eye	92344	GORAB	OMIM:231070
HP:0000490	Deeply set eye	1063	CENPF	OMIM:243605
HP:0000490	Deeply set eye	1000	CDH2	OMIM:618929
HP:0000490	Deeply set eye	6821	SUOX	OMIM:272300
HP:0000490	Deeply set eye	22827	PUF60	ORPHA:508488
HP:0000490	Deeply set eye	6045	RNF2	OMIM:619460
HP:0000490	Deeply set eye	7319	UBE2A	OMIM:300860
HP:0000490	Deeply set eye	10943	MSL3	OMIM:301032
HP:0000490	Deeply set eye	8091	HMGA2	ORPHA:94063
HP:0000490	Deeply set eye	23592	LEMD3	ORPHA:94063
HP:0000490	Deeply set eye	5718	PSMD12	ORPHA:529962
HP:0000490	Deeply set eye	2186	BPTF	ORPHA:529962
HP:0000490	Deeply set eye	3977	LIFR	OMIM:601559
HP:0000490	Deeply set eye	80185	TTI2	OMIM:615541
HP:0000490	Deeply set eye	80185	TTI2	ORPHA:391307
HP:0000490	Deeply set eye	1822	ATN1	OMIM:618494
HP:0000490	Deeply set eye	26040	SETBP1	OMIM:616078
HP:0000490	Deeply set eye	25	ABL1	OMIM:617602
HP:0000490	Deeply set eye	128637	TBC1D20	OMIM:615663
HP:0000490	Deeply set eye	55644	OSGEP	OMIM:617729
HP:0000490	Deeply set eye	4763	NF1	ORPHA:97685
HP:0000490	Deeply set eye	50801	KCNK4	OMIM:618381
HP:0000490	Deeply set eye	10664	CTCF	ORPHA:363611
HP:0000490	Deeply set eye	134218	DNAJC21	OMIM:617052
HP:0000490	Deeply set eye	10526	IPO8	OMIM:619472
HP:0000490	Deeply set eye	6711	SPTBN1	OMIM:619475
HP:0000490	Deeply set eye	2033	EP300	OMIM:180849
HP:0000490	Deeply set eye	25782	RAB3GAP2	OMIM:614225
HP:0000490	Deeply set eye	51002	TPRKB	OMIM:617731
HP:0000490	Deeply set eye	285590	SH3PXD2B	ORPHA:137834
HP:0000490	Deeply set eye	80036	TRPM3	OMIM:620224
HP:0000490	Deeply set eye	8405	SPOP	OMIM:618828
HP:0000490	Deeply set eye	8405	SPOP	OMIM:618829
HP:0000490	Deeply set eye	5293	PIK3CD	ORPHA:221139
HP:0000490	Deeply set eye	90417	KNSTRN	ORPHA:221139
HP:0000490	Deeply set eye	8936	WASF1	OMIM:618707
HP:0000490	Deeply set eye	5058	PAK1	OMIM:618158
HP:0000490	Deeply set eye	9702	CEP57	OMIM:614114
HP:0000490	Deeply set eye	57038	RARS2	OMIM:611523
HP:0000490	Deeply set eye	2799	GNS	OMIM:252940
HP:0000490	Deeply set eye	80267	EDEM3	OMIM:619493
HP:0000490	Deeply set eye	6748	SSR4	ORPHA:370927
HP:0000490	Deeply set eye	6748	SSR4	OMIM:300934
HP:0000490	Deeply set eye	6904	TBCD	OMIM:617193
HP:0000490	Deeply set eye	2332	FMR1	ORPHA:261483
HP:0000490	Deeply set eye	7518	XRCC4	OMIM:616541
HP:0000490	Deeply set eye	10479	SLC9A6	ORPHA:85278
HP:0000490	Deeply set eye	55023	PHIP	OMIM:617991
HP:0000490	Deeply set eye	2193	FARSA	OMIM:619013
HP:0000490	Deeply set eye	1984	EIF5A	OMIM:619376
HP:0000490	Deeply set eye	178	AGL	OMIM:232400
HP:0000490	Deeply set eye	55733	HHAT	ORPHA:1422
HP:0000490	Deeply set eye	5449	POU1F1	OMIM:613038
HP:0000490	Deeply set eye	9757	KMT2B	OMIM:619934
HP:0000490	Deeply set eye	23418	CRB1	OMIM:613835
HP:0000490	Deeply set eye	4693	NDP	ORPHA:649
HP:0000490	Deeply set eye	4693	NDP	OMIM:305390
HP:0000490	Deeply set eye	6913	TBX15	ORPHA:93333
HP:0000490	Deeply set eye	6913	TBX15	OMIM:260660
HP:0000490	Deeply set eye	27161	AGO2	OMIM:619149
HP:0000490	Deeply set eye	23404	EXOSC2	OMIM:617763
HP:0000490	Deeply set eye	1806	DPYD	ORPHA:293948
HP:0000490	Deeply set eye	2902	GRIN1	OMIM:614254
HP:0000490	Deeply set eye	2036	EPB41L1	OMIM:614257
HP:0000490	Deeply set eye	4858	NOVA2	OMIM:618859
HP:0000490	Deeply set eye	219844	HYLS1	ORPHA:2189
HP:0000490	Deeply set eye	374654	KIF7	ORPHA:2189
HP:0000490	Deeply set eye	7042	TGFB2	OMIM:614816
HP:0000490	Deeply set eye	25886	POC1A	OMIM:614813
HP:0000490	Deeply set eye	3480	IGF1R	OMIM:270450
HP:0000491	Keratitis	10804	GJB6	ORPHA:477
HP:0000491	Keratitis	2706	GJB2	ORPHA:477
HP:0000491	Keratitis	2706	GJB2	OMIM:148210
HP:0000491	Keratitis	1643	DDB2	OMIM:278740
HP:0000491	Keratitis	1643	DDB2	ORPHA:910
HP:0000491	Keratitis	5080	PAX6	ORPHA:2334
HP:0000491	Keratitis	5080	PAX6	OMIM:148190
HP:0000491	Keratitis	114548	NLRP3	OMIM:148200
HP:0000491	Keratitis	7454	WAS	ORPHA:906
HP:0000491	Keratitis	7456	WIPF1	ORPHA:906
HP:0000491	Keratitis	2263	FGFR2	OMIM:123500
HP:0000491	Keratitis	7507	XPA	OMIM:278700
HP:0000491	Keratitis	7507	XPA	ORPHA:910
HP:0000491	Keratitis	8517	IKBKG	ORPHA:464
HP:0000491	Keratitis	8517	IKBKG	OMIM:308300
HP:0000491	Keratitis	51360	MBTPS2	OMIM:308800
HP:0000491	Keratitis	51360	MBTPS2	OMIM:308205
HP:0000491	Keratitis	51360	MBTPS2	ORPHA:2273
HP:0000491	Keratitis	5429	POLH	OMIM:278750
HP:0000491	Keratitis	5429	POLH	ORPHA:90342
HP:0000491	Keratitis	55343	SLC35C1	ORPHA:99843
HP:0000491	Keratitis	6720	SREBF1	OMIM:619016
HP:0000491	Keratitis	6935	ZEB1	OMIM:613270
HP:0000491	Keratitis	5339	PLEC	OMIM:226670
HP:0000491	Keratitis	8218	CLTCL1	ORPHA:453510
HP:0000491	Keratitis	3572	IL6ST	OMIM:618523
HP:0000491	Keratitis	2074	ERCC6	OMIM:278800
HP:0000491	Keratitis	64127	NOD2	ORPHA:90340
HP:0000491	Keratitis	7508	XPC	OMIM:278720
HP:0000491	Keratitis	7508	XPC	ORPHA:910
HP:0000491	Keratitis	8626	TP63	ORPHA:1896
HP:0000491	Keratitis	4914	NTRK1	OMIM:256800
HP:0000491	Keratitis	242	ALOX12B	ORPHA:79394
HP:0000491	Keratitis	204219	CERS3	ORPHA:79394
HP:0000491	Keratitis	26154	ABCA12	ORPHA:79394
HP:0000491	Keratitis	285848	PNPLA1	ORPHA:79394
HP:0000491	Keratitis	59344	ALOXE3	ORPHA:79394
HP:0000491	Keratitis	348938	NIPAL4	ORPHA:79394
HP:0000491	Keratitis	7051	TGM1	ORPHA:79394
HP:0000491	Keratitis	9244	CRLF1	OMIM:272430
HP:0000491	Keratitis	2068	ERCC2	OMIM:278730
HP:0000491	Keratitis	2068	ERCC2	ORPHA:910
HP:0000491	Keratitis	2071	ERCC3	ORPHA:910
HP:0000491	Keratitis	2072	ERCC4	ORPHA:910
HP:0000491	Keratitis	2073	ERCC5	ORPHA:910
HP:0000491	Keratitis	1288	COL4A6	ORPHA:1018
HP:0000491	Keratitis	1287	COL4A5	ORPHA:1018
HP:0000491	Keratitis	2261	FGFR3	ORPHA:2363
HP:0000491	Keratitis	2255	FGF10	ORPHA:2363
HP:0000491	Keratitis	3141	HLCS	ORPHA:79242
HP:0000491	Keratitis	7390	UROS	ORPHA:79277
HP:0000491	Keratitis	2623	GATA1	ORPHA:79277
HP:0000491	Keratitis	326	AIRE	OMIM:240300
HP:0000491	Keratitis	7389	UROD	ORPHA:95159
HP:0000491	Keratitis	6335	SCN9A	OMIM:133020
HP:0000491	Keratitis	54941	RNF125	OMIM:616260
HP:0000491	Keratitis	55699	IARS2	OMIM:616007
HP:0000491	Keratitis	1161	ERCC8	ORPHA:90324
HP:0000491	Keratitis	404672	GTF2H5	ORPHA:33364
HP:0000491	Keratitis	833	CARS1	ORPHA:33364
HP:0000491	Keratitis	7737	RNF113A	ORPHA:33364
HP:0000491	Keratitis	136647	MPLKIP	ORPHA:33364
HP:0000491	Keratitis	136647	MPLKIP	OMIM:234050
HP:0000491	Keratitis	6897	TARS1	ORPHA:33364
HP:0000491	Keratitis	2961	GTF2E2	ORPHA:33364
HP:0000491	Keratitis	1308	COL17A1	ORPHA:293381
HP:0000491	Keratitis	4547	MTTP	ORPHA:14
HP:0000491	Keratitis	2934	GSN	ORPHA:85448
HP:0000491	Keratitis	4081	MAB21L1	OMIM:618479
HP:0000491	Keratitis	3930	LBR	ORPHA:779
HP:0000491	Keratitis	2200	FBN1	OMIM:616914
HP:0000491	Keratitis	165	AEBP1	ORPHA:536532
HP:0000491	Keratitis	56244	BTNL2	ORPHA:797
HP:0000491	Keratitis	3123	HLA-DRB1	ORPHA:797
HP:0000491	Keratitis	149233	IL23R	ORPHA:117
HP:0000491	Keratitis	6775	STAT4	ORPHA:117
HP:0000491	Keratitis	3586	IL10	ORPHA:117
HP:0000491	Keratitis	4210	MEFV	ORPHA:117
HP:0000491	Keratitis	1230	CCR1	ORPHA:117
HP:0000491	Keratitis	355	FAS	ORPHA:117
HP:0000491	Keratitis	3592	IL12A	ORPHA:117
HP:0000491	Keratitis	101928376	IL12A-AS1	ORPHA:117
HP:0000491	Keratitis	3106	HLA-B	ORPHA:117
HP:0000491	Keratitis	7099	TLR4	ORPHA:117
HP:0000491	Keratitis	3459	IFNGR1	ORPHA:117
HP:0000491	Keratitis	720	C4A	ORPHA:117
HP:0000491	Keratitis	337867	UBAC2	ORPHA:117
HP:0000491	Keratitis	51752	ERAP1	ORPHA:117
HP:0000491	Keratitis	8302	KLRC4	ORPHA:117
HP:0000491	Keratitis	4072	EPCAM	ORPHA:92050
HP:0000491	Keratitis	105371045	PERCC1	ORPHA:92050
HP:0000491	Keratitis	22861	NLRP1	OMIM:617388
HP:0000493	Abnormal foveal morphology	3423	IDS	ORPHA:217085
HP:0000493	Abnormal foveal morphology	3423	IDS	ORPHA:217093
HP:0000493	Abnormal foveal morphology	8842	PROM1	ORPHA:827
HP:0000493	Abnormal foveal morphology	5961	PRPH2	ORPHA:827
HP:0000493	Abnormal foveal morphology	6785	ELOVL4	ORPHA:827
HP:0000493	Abnormal foveal morphology	24	ABCA4	ORPHA:827
HP:0000493	Abnormal foveal morphology	54714	CNGB3	ORPHA:827
HP:0000493	Abnormal foveal morphology	6017	RLBP1	ORPHA:85128
HP:0000493	Abnormal foveal morphology	63915	BLOC1S5	OMIM:619172
HP:0000493	Abnormal foveal morphology	283652	SLC24A5	OMIM:113750
HP:0000493	Abnormal foveal morphology	57479	PRR12	OMIM:619539
HP:0000493	Abnormal foveal morphology	5080	PAX6	ORPHA:2334
HP:0000493	Abnormal foveal morphology	5080	PAX6	OMIM:136520
HP:0000493	Abnormal foveal morphology	5080	PAX6	OMIM:604229
HP:0000493	Abnormal foveal morphology	5080	PAX6	OMIM:106210
HP:0000493	Abnormal foveal morphology	7299	TYR	OMIM:203100
HP:0000493	Abnormal foveal morphology	7299	TYR	ORPHA:79431
HP:0000493	Abnormal foveal morphology	7299	TYR	ORPHA:79434
HP:0000493	Abnormal foveal morphology	4948	OCA2	OMIM:203200
HP:0000493	Abnormal foveal morphology	4948	OCA2	ORPHA:79432
HP:0000493	Abnormal foveal morphology	4157	MC1R	OMIM:203200
HP:0000493	Abnormal foveal morphology	4157	MC1R	ORPHA:79432
HP:0000493	Abnormal foveal morphology	7360	UGP2	OMIM:618744
HP:0000493	Abnormal foveal morphology	92154	MTSS2	OMIM:620086
HP:0000493	Abnormal foveal morphology	8943	AP3D1	ORPHA:54
HP:0000493	Abnormal foveal morphology	4935	GPR143	ORPHA:54
HP:0000493	Abnormal foveal morphology	4935	GPR143	OMIM:300500
HP:0000493	Abnormal foveal morphology	89781	HPS4	OMIM:614073
HP:0000493	Abnormal foveal morphology	11234	HPS5	OMIM:614074
HP:0000493	Abnormal foveal morphology	388552	BLOC1S3	OMIM:614077
HP:0000493	Abnormal foveal morphology	1638	DCT	OMIM:619165
HP:0000493	Abnormal foveal morphology	157657	CFAP418	OMIM:617406
HP:0000493	Abnormal foveal morphology	9573	GDF3	OMIM:613703
HP:0000493	Abnormal foveal morphology	392255	GDF6	OMIM:613703
HP:0000493	Abnormal foveal morphology	8517	IKBKG	OMIM:308300
HP:0000493	Abnormal foveal morphology	7490	WT1	OMIM:106210
HP:0000493	Abnormal foveal morphology	60386	SLC25A19	OMIM:607196
HP:0000493	Abnormal foveal morphology	51151	SLC45A2	ORPHA:79435
HP:0000493	Abnormal foveal morphology	4758	NEU1	ORPHA:93400
HP:0000493	Abnormal foveal morphology	146167	SLC38A8	OMIM:609218
HP:0000493	Abnormal foveal morphology	3617	IMPG1	OMIM:153870
HP:0000493	Abnormal foveal morphology	1495	CTNNA1	OMIM:608970
HP:0000493	Abnormal foveal morphology	4942	OAT	OMIM:258870
HP:0000493	Abnormal foveal morphology	83552	MFRP	OMIM:611040
HP:0000493	Abnormal foveal morphology	348	APOE	OMIM:603075
HP:0000493	Abnormal foveal morphology	83872	HMCN1	OMIM:603075
HP:0000493	Abnormal foveal morphology	3078	CFHR1	OMIM:603075
HP:0000493	Abnormal foveal morphology	10878	CFHR3	OMIM:603075
HP:0000493	Abnormal foveal morphology	8322	FZD4	OMIM:133780
HP:0000493	Abnormal foveal morphology	4041	LRP5	OMIM:133780
HP:0000493	Abnormal foveal morphology	9364	RAB28	OMIM:615374
HP:0000493	Abnormal foveal morphology	778	CACNA1F	OMIM:300476
HP:0000493	Abnormal foveal morphology	22926	ATF6	ORPHA:49382
HP:0000493	Abnormal foveal morphology	22926	ATF6	OMIM:616517
HP:0000493	Abnormal foveal morphology	5146	PDE6C	ORPHA:49382
HP:0000493	Abnormal foveal morphology	5146	PDE6C	OMIM:613093
HP:0000493	Abnormal foveal morphology	6103	RPGR	ORPHA:49382
HP:0000493	Abnormal foveal morphology	5149	PDE6H	ORPHA:49382
HP:0000493	Abnormal foveal morphology	2780	GNAT2	ORPHA:49382
HP:0000493	Abnormal foveal morphology	1261	CNGA3	ORPHA:49382
HP:0000493	Abnormal foveal morphology	1261	CNGA3	OMIM:216900
HP:0000493	Abnormal foveal morphology	6010	RHO	ORPHA:52427
HP:0000493	Abnormal foveal morphology	5959	RDH5	ORPHA:52427
HP:0000493	Abnormal foveal morphology	83723	TLCD3B	OMIM:619531
HP:0000493	Abnormal foveal morphology	8481	OFD1	OMIM:300424
HP:0000493	Abnormal foveal morphology	79803	HPS6	OMIM:614075
HP:0000493	Abnormal foveal morphology	5148	PDE6G	OMIM:613582
HP:0000493	Abnormal foveal morphology	6121	RPE65	OMIM:204100
HP:0000493	Abnormal foveal morphology	5950	RBP4	OMIM:615147
HP:0000493	Abnormal foveal morphology	7287	TULP1	OMIM:613843
HP:0000494	Downslanted palpebral fissures	1718	DHCR24	OMIM:602398
HP:0000494	Downslanted palpebral fissures	1718	DHCR24	ORPHA:35107
HP:0000494	Downslanted palpebral fissures	7528	YY1	ORPHA:506358
HP:0000494	Downslanted palpebral fissures	7528	YY1	OMIM:617557
HP:0000494	Downslanted palpebral fissures	8036	SHOC2	OMIM:607721
HP:0000494	Downslanted palpebral fissures	11253	MAN1B1	ORPHA:397941
HP:0000494	Downslanted palpebral fissures	11253	MAN1B1	OMIM:614202
HP:0000494	Downslanted palpebral fissures	26235	FBXL4	OMIM:615471
HP:0000494	Downslanted palpebral fissures	8367	H4C5	OMIM:619950
HP:0000494	Downslanted palpebral fissures	340533	NEXMIF	OMIM:300912
HP:0000494	Downslanted palpebral fissures	8294	H4C9	OMIM:619951
HP:0000494	Downslanted palpebral fissures	1139	CHRNA7	ORPHA:199318
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	OMIM:616564
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	OMIM:605275
HP:0000494	Downslanted palpebral fissures	50651	SLC45A1	OMIM:617532
HP:0000494	Downslanted palpebral fissures	23334	SZT2	OMIM:615476
HP:0000494	Downslanted palpebral fissures	23334	SZT2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6016	RIT1	OMIM:615355
HP:0000494	Downslanted palpebral fissures	6016	RIT1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	1947	EFNB1	ORPHA:1520
HP:0000494	Downslanted palpebral fissures	1947	EFNB1	OMIM:304110
HP:0000494	Downslanted palpebral fissures	51126	NAA20	OMIM:619717
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:149730
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:123790
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:101200
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:101600
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	ORPHA:87
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	ORPHA:1555
HP:0000494	Downslanted palpebral fissures	55627	SMPD4	OMIM:618622
HP:0000494	Downslanted palpebral fissures	81857	MED25	OMIM:616449
HP:0000494	Downslanted palpebral fissures	81857	MED25	ORPHA:464738
HP:0000494	Downslanted palpebral fissures	5077	PAX3	ORPHA:1529
HP:0000494	Downslanted palpebral fissures	5077	PAX3	ORPHA:896
HP:0000494	Downslanted palpebral fissures	5077	PAX3	OMIM:122880
HP:0000494	Downslanted palpebral fissures	55209	SETD5	ORPHA:404440
HP:0000494	Downslanted palpebral fissures	55209	SETD5	OMIM:615761
HP:0000494	Downslanted palpebral fissures	10743	RAI1	ORPHA:477817
HP:0000494	Downslanted palpebral fissures	10743	RAI1	ORPHA:1713
HP:0000494	Downslanted palpebral fissures	116931	MED12L	OMIM:618872
HP:0000494	Downslanted palpebral fissures	9578	CDC42BPB	OMIM:619841
HP:0000494	Downslanted palpebral fissures	3020	H3-3A	OMIM:619720
HP:0000494	Downslanted palpebral fissures	80816	ASXL3	OMIM:615485
HP:0000494	Downslanted palpebral fissures	80816	ASXL3	ORPHA:352577
HP:0000494	Downslanted palpebral fissures	55790	CSGALNACT1	OMIM:618870
HP:0000494	Downslanted palpebral fissures	1723	DHODH	OMIM:263750
HP:0000494	Downslanted palpebral fissures	1723	DHODH	ORPHA:246
HP:0000494	Downslanted palpebral fissures	27245	AHDC1	ORPHA:412069
HP:0000494	Downslanted palpebral fissures	27245	AHDC1	OMIM:615829
HP:0000494	Downslanted palpebral fissures	55690	PACS1	OMIM:615009
HP:0000494	Downslanted palpebral fissures	55690	PACS1	ORPHA:329224
HP:0000494	Downslanted palpebral fissures	55904	KMT2E	OMIM:618512
HP:0000494	Downslanted palpebral fissures	5728	PTEN	ORPHA:2969
HP:0000494	Downslanted palpebral fissures	5728	PTEN	ORPHA:744
HP:0000494	Downslanted palpebral fissures	5728	PTEN	ORPHA:79076
HP:0000494	Downslanted palpebral fissures	23384	SPECC1L	ORPHA:1519
HP:0000494	Downslanted palpebral fissures	23384	SPECC1L	OMIM:145420
HP:0000494	Downslanted palpebral fissures	3190	HNRNPK	OMIM:616580
HP:0000494	Downslanted palpebral fissures	2590	GALNT2	OMIM:618885
HP:0000494	Downslanted palpebral fissures	54453	RIN2	OMIM:613075
HP:0000494	Downslanted palpebral fissures	54453	RIN2	ORPHA:217335
HP:0000494	Downslanted palpebral fissures	25885	POLR1A	OMIM:616462
HP:0000494	Downslanted palpebral fissures	113189	CHST14	ORPHA:2953
HP:0000494	Downslanted palpebral fissures	113189	CHST14	OMIM:601776
HP:0000494	Downslanted palpebral fissures	29940	DSE	ORPHA:2953
HP:0000494	Downslanted palpebral fissures	29940	DSE	OMIM:615539
HP:0000494	Downslanted palpebral fissures	79029	AFG2B	OMIM:619616
HP:0000494	Downslanted palpebral fissures	7021	TFAP2B	ORPHA:46627
HP:0000494	Downslanted palpebral fissures	815	CAMK2A	OMIM:617798
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	ORPHA:2834
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	OMIM:278250
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	OMIM:219200
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	4853	NOTCH2	OMIM:102500
HP:0000494	Downslanted palpebral fissures	4853	NOTCH2	ORPHA:955
HP:0000494	Downslanted palpebral fissures	9968	MED12	ORPHA:93932
HP:0000494	Downslanted palpebral fissures	9968	MED12	OMIM:305450
HP:0000494	Downslanted palpebral fissures	9968	MED12	OMIM:300895
HP:0000494	Downslanted palpebral fissures	10381	TUBB3	ORPHA:300570
HP:0000494	Downslanted palpebral fissures	64359	NXN	ORPHA:1507
HP:0000494	Downslanted palpebral fissures	4920	ROR2	ORPHA:1507
HP:0000494	Downslanted palpebral fissures	4920	ROR2	OMIM:268310
HP:0000494	Downslanted palpebral fissures	157680	VPS13B	OMIM:216550
HP:0000494	Downslanted palpebral fissures	157680	VPS13B	ORPHA:193
HP:0000494	Downslanted palpebral fissures	2626	GATA4	ORPHA:251071
HP:0000494	Downslanted palpebral fissures	9401	RECQL4	OMIM:218600
HP:0000494	Downslanted palpebral fissures	6872	TAF1	ORPHA:480907
HP:0000494	Downslanted palpebral fissures	6872	TAF1	OMIM:300966
HP:0000494	Downslanted palpebral fissures	1105	CHD1	OMIM:617682
HP:0000494	Downslanted palpebral fissures	1105	CHD1	ORPHA:529965
HP:0000494	Downslanted palpebral fissures	8726	EED	OMIM:617561
HP:0000494	Downslanted palpebral fissures	8726	EED	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	10815	CPLX1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	54872	PIGG	ORPHA:280
HP:0000494	Downslanted palpebral fissures	7469	NELFA	ORPHA:280
HP:0000494	Downslanted palpebral fissures	1487	CTBP1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	3954	LETM1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	7468	NSD2	ORPHA:280
HP:0000494	Downslanted palpebral fissures	5159	PDGFRB	OMIM:616592
HP:0000494	Downslanted palpebral fissures	4330	MN1	OMIM:618774
HP:0000494	Downslanted palpebral fissures	1501	CTNND2	ORPHA:281
HP:0000494	Downslanted palpebral fissures	9037	SEMA5A	ORPHA:281
HP:0000494	Downslanted palpebral fissures	5528	PPP2R5D	OMIM:616355
HP:0000494	Downslanted palpebral fissures	5528	PPP2R5D	ORPHA:457279
HP:0000494	Downslanted palpebral fissures	56992	KIF15	OMIM:619981
HP:0000494	Downslanted palpebral fissures	56992	KIF15	ORPHA:261323
HP:0000494	Downslanted palpebral fissures	57178	ZMIZ1	OMIM:618659
HP:0000494	Downslanted palpebral fissures	200734	SPRED2	OMIM:619745
HP:0000494	Downslanted palpebral fissures	200734	SPRED2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	3737	KCNA2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1759	DNM1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8120	AP3B2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	OMIM:617403
HP:0000494	Downslanted palpebral fissures	10991	SLC38A3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51343	FZR1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	22906	TRAK1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2566	GABRG2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1917	EEF1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1917	EEF1A2	OMIM:616393
HP:0000494	Downslanted palpebral fissures	2561	GABRB2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8831	SYNGAP1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	7532	YWHAG	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	79876	UBA5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6328	SCN3A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2558	GABRA5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	781	CACNA2D1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2906	GRIN2D	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	116150	NUS1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	10659	CELF2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	774	CACNA1B	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1213	CLTC	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51741	WWOX	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51412	ACTL6B	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	348980	HCN1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6506	SLC1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8867	SYNJ1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2258	FGF13	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	477	ATP1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	3745	KCNB1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	284111	SLC13A5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	25977	NECAP1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	16	AARS1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6334	SCN8A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	22866	CNKSR2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	9568	GABBR2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2555	GABRA2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	55152	DALRD3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	773	CACNA1A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	26999	CYFIP2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	4915	NTRK2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	25973	PARS2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	23097	CDK19	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	64801	ARV1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	79947	DHDDS	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2257	FGF12	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	5530	PPP3CA	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	478	ATP1A3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	55623	THUMPD1	OMIM:619989
HP:0000494	Downslanted palpebral fissures	10716	TBR1	ORPHA:1617
HP:0000494	Downslanted palpebral fissures	4247	MGAT2	OMIM:212066
HP:0000494	Downslanted palpebral fissures	4247	MGAT2	ORPHA:79329
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:90650
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:90652
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:304120
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:1826
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:311300
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:305620
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:300048
HP:0000494	Downslanted palpebral fissures	3476	IGBP1	ORPHA:52055
HP:0000494	Downslanted palpebral fissures	3476	IGBP1	OMIM:300472
HP:0000494	Downslanted palpebral fissures	92482	BBIP1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	80184	CEP290	ORPHA:110
HP:0000494	Downslanted palpebral fissures	11020	IFT27	ORPHA:110
HP:0000494	Downslanted palpebral fissures	582	BBS1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	49855	SCAPER	ORPHA:110
HP:0000494	Downslanted palpebral fissures	4867	NPHP1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	51057	WDPCP	ORPHA:110
HP:0000494	Downslanted palpebral fissures	27241	BBS9	ORPHA:110
HP:0000494	Downslanted palpebral fissures	84984	CEP19	ORPHA:110
HP:0000494	Downslanted palpebral fissures	22954	TRIM32	ORPHA:110
HP:0000494	Downslanted palpebral fissures	54903	MKS1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	79738	BBS10	ORPHA:110
HP:0000494	Downslanted palpebral fissures	123016	TTC8	ORPHA:110
HP:0000494	Downslanted palpebral fissures	26160	IFT172	ORPHA:110
HP:0000494	Downslanted palpebral fissures	583	BBS2	ORPHA:110
HP:0000494	Downslanted palpebral fissures	585	BBS4	ORPHA:110
HP:0000494	Downslanted palpebral fissures	8195	MKKS	ORPHA:110
HP:0000494	Downslanted palpebral fissures	54585	LZTFL1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	55212	BBS7	ORPHA:110
HP:0000494	Downslanted palpebral fissures	166379	BBS12	ORPHA:110
HP:0000494	Downslanted palpebral fissures	10806	SDCCAG8	ORPHA:110
HP:0000494	Downslanted palpebral fissures	157657	CFAP418	ORPHA:110
HP:0000494	Downslanted palpebral fissures	84100	ARL6	ORPHA:110
HP:0000494	Downslanted palpebral fissures	129880	BBS5	ORPHA:110
HP:0000494	Downslanted palpebral fissures	80173	IFT74	ORPHA:110
HP:0000494	Downslanted palpebral fissures	5518	PPP2R1A	OMIM:616362
HP:0000494	Downslanted palpebral fissures	253738	EBF3	OMIM:617330
HP:0000494	Downslanted palpebral fissures	23312	DMXL2	OMIM:618663
HP:0000494	Downslanted palpebral fissures	1182	CLCN3	OMIM:619512
HP:0000494	Downslanted palpebral fissures	23512	SUZ12	OMIM:618786
HP:0000494	Downslanted palpebral fissures	23512	SUZ12	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	3590	IL11RA	OMIM:614188
HP:0000494	Downslanted palpebral fissures	7862	BRPF1	OMIM:617333
HP:0000494	Downslanted palpebral fissures	23126	POGZ	OMIM:616364
HP:0000494	Downslanted palpebral fissures	57680	CHD8	OMIM:615032
HP:0000494	Downslanted palpebral fissures	23461	ABCA5	OMIM:135400
HP:0000494	Downslanted palpebral fissures	8558	CDK10	OMIM:617694
HP:0000494	Downslanted palpebral fissures	51633	OTUD6B	OMIM:617452
HP:0000494	Downslanted palpebral fissures	51633	OTUD6B	ORPHA:505237
HP:0000494	Downslanted palpebral fissures	3572	IL6ST	OMIM:619750
HP:0000494	Downslanted palpebral fissures	5048	PAFAH1B1	ORPHA:217385
HP:0000494	Downslanted palpebral fissures	7531	YWHAE	ORPHA:217385
HP:0000494	Downslanted palpebral fissures	6899	TBX1	ORPHA:1727
HP:0000494	Downslanted palpebral fissures	6899	TBX1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	145258	GSC	OMIM:602471
HP:0000494	Downslanted palpebral fissures	85365	ALG2	ORPHA:79326
HP:0000494	Downslanted palpebral fissures	26137	ZBTB20	OMIM:259050
HP:0000494	Downslanted palpebral fissures	26137	ZBTB20	ORPHA:3042
HP:0000494	Downslanted palpebral fissures	8314	BAP1	OMIM:619762
HP:0000494	Downslanted palpebral fissures	7750	ZMYM2	OMIM:619522
HP:0000494	Downslanted palpebral fissures	27086	FOXP1	ORPHA:391372
HP:0000494	Downslanted palpebral fissures	27086	FOXP1	OMIM:613670
HP:0000494	Downslanted palpebral fissures	53335	BCL11A	OMIM:617101
HP:0000494	Downslanted palpebral fissures	9158	FIBP	OMIM:617107
HP:0000494	Downslanted palpebral fissures	9158	FIBP	ORPHA:500095
HP:0000494	Downslanted palpebral fissures	4621	MYH3	OMIM:618436
HP:0000494	Downslanted palpebral fissures	4621	MYH3	OMIM:178110
HP:0000494	Downslanted palpebral fissures	4621	MYH3	ORPHA:2053
HP:0000494	Downslanted palpebral fissures	4621	MYH3	ORPHA:2990
HP:0000494	Downslanted palpebral fissures	57492	ARID1B	ORPHA:251056
HP:0000494	Downslanted palpebral fissures	57492	ARID1B	OMIM:135900
HP:0000494	Downslanted palpebral fissures	57688	ZSWIM6	OMIM:603671
HP:0000494	Downslanted palpebral fissures	7030	TFE3	OMIM:301066
HP:0000494	Downslanted palpebral fissures	2239	GPC4	ORPHA:373
HP:0000494	Downslanted palpebral fissures	2239	GPC4	OMIM:312870
HP:0000494	Downslanted palpebral fissures	2719	GPC3	ORPHA:373
HP:0000494	Downslanted palpebral fissures	2719	GPC3	OMIM:312870
HP:0000494	Downslanted palpebral fissures	259232	NALCN	OMIM:616266
HP:0000494	Downslanted palpebral fissures	259232	NALCN	ORPHA:2053
HP:0000494	Downslanted palpebral fissures	259232	NALCN	ORPHA:371364
HP:0000494	Downslanted palpebral fissures	57479	PRR12	OMIM:619539
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	OMIM:166250
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	OMIM:101600
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	ORPHA:2117
HP:0000494	Downslanted palpebral fissures	4052	LTBP1	ORPHA:90349
HP:0000494	Downslanted palpebral fissures	4052	LTBP1	OMIM:619451
HP:0000494	Downslanted palpebral fissures	30008	EFEMP2	ORPHA:90349
HP:0000494	Downslanted palpebral fissures	30008	EFEMP2	OMIM:614437
HP:0000494	Downslanted palpebral fissures	10516	FBLN5	ORPHA:90349
HP:0000494	Downslanted palpebral fissures	6885	MAP3K7	ORPHA:1826
HP:0000494	Downslanted palpebral fissures	6885	MAP3K7	OMIM:617137
HP:0000494	Downslanted palpebral fissures	8813	DPM1	ORPHA:79322
HP:0000494	Downslanted palpebral fissures	8813	DPM1	OMIM:608799
HP:0000494	Downslanted palpebral fissures	10262	SF3B4	ORPHA:245
HP:0000494	Downslanted palpebral fissures	10262	SF3B4	OMIM:154400
HP:0000494	Downslanted palpebral fissures	6595	SMARCA2	OMIM:601358
HP:0000494	Downslanted palpebral fissures	6595	SMARCA2	ORPHA:3051
HP:0000494	Downslanted palpebral fissures	91252	SLC39A13	ORPHA:157965
HP:0000494	Downslanted palpebral fissures	91252	SLC39A13	OMIM:612350
HP:0000494	Downslanted palpebral fissures	117581	TWIST2	ORPHA:1807
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	OMIM:618332
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	OMIM:180849
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	ORPHA:353277
HP:0000494	Downslanted palpebral fissures	6261	RYR1	OMIM:619542
HP:0000494	Downslanted palpebral fissures	9533	POLR1C	OMIM:248390
HP:0000494	Downslanted palpebral fissures	9533	POLR1C	ORPHA:861
HP:0000494	Downslanted palpebral fissures	6654	SOS1	OMIM:610733
HP:0000494	Downslanted palpebral fissures	6654	SOS1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	1801	DPH1	ORPHA:459061
HP:0000494	Downslanted palpebral fissures	1801	DPH1	OMIM:616901
HP:0000494	Downslanted palpebral fissures	389827	MYMK	OMIM:254940
HP:0000494	Downslanted palpebral fissures	389827	MYMK	ORPHA:1358
HP:0000494	Downslanted palpebral fissures	5813	PURA	ORPHA:314655
HP:0000494	Downslanted palpebral fissures	9949	AMMECR1	OMIM:300990
HP:0000494	Downslanted palpebral fissures	9949	AMMECR1	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	2737	GLI3	ORPHA:672
HP:0000494	Downslanted palpebral fissures	2737	GLI3	OMIM:175700
HP:0000494	Downslanted palpebral fissures	8925	HERC1	OMIM:617011
HP:0000494	Downslanted palpebral fissures	8925	HERC1	ORPHA:457359
HP:0000494	Downslanted palpebral fissures	23013	SPEN	OMIM:619312
HP:0000494	Downslanted palpebral fissures	5351	PLOD1	OMIM:225400
HP:0000494	Downslanted palpebral fissures	56896	DPYSL5	OMIM:619435
HP:0000494	Downslanted palpebral fissures	6477	SIAH1	OMIM:619314
HP:0000494	Downslanted palpebral fissures	4598	MVK	ORPHA:29
HP:0000494	Downslanted palpebral fissures	4598	MVK	OMIM:610377
HP:0000494	Downslanted palpebral fissures	54517	PUS7	OMIM:618342
HP:0000494	Downslanted palpebral fissures	10765	KDM5B	OMIM:618109
HP:0000494	Downslanted palpebral fissures	8573	CASK	OMIM:300749
HP:0000494	Downslanted palpebral fissures	23314	SATB2	ORPHA:251028
HP:0000494	Downslanted palpebral fissures	23314	SATB2	ORPHA:251019
HP:0000494	Downslanted palpebral fissures	23314	SATB2	OMIM:612313
HP:0000494	Downslanted palpebral fissures	5396	PRRX1	OMIM:202650
HP:0000494	Downslanted palpebral fissures	6418	SET	OMIM:618106
HP:0000494	Downslanted palpebral fissures	2200	FBN1	ORPHA:284979
HP:0000494	Downslanted palpebral fissures	2200	FBN1	OMIM:616914
HP:0000494	Downslanted palpebral fissures	2200	FBN1	ORPHA:2462
HP:0000494	Downslanted palpebral fissures	2200	FBN1	OMIM:154700
HP:0000494	Downslanted palpebral fissures	27125	AFF4	ORPHA:444077
HP:0000494	Downslanted palpebral fissures	55315	SLC29A3	OMIM:602782
HP:0000494	Downslanted palpebral fissures	7372	UMPS	ORPHA:30
HP:0000494	Downslanted palpebral fissures	7707	ZNF148	OMIM:617260
HP:0000494	Downslanted palpebral fissures	91754	NEK9	OMIM:617022
HP:0000494	Downslanted palpebral fissures	650	BMP2	ORPHA:261295
HP:0000494	Downslanted palpebral fissures	650	BMP2	OMIM:617877
HP:0000494	Downslanted palpebral fissures	9871	SEC24D	OMIM:616294
HP:0000494	Downslanted palpebral fissures	9871	SEC24D	ORPHA:2050
HP:0000494	Downslanted palpebral fissures	29998	BICRA	OMIM:619325
HP:0000494	Downslanted palpebral fissures	6651	SON	OMIM:617140
HP:0000494	Downslanted palpebral fissures	6651	SON	ORPHA:500150
HP:0000494	Downslanted palpebral fissures	9342	SNAP29	ORPHA:66631
HP:0000494	Downslanted palpebral fissures	9342	SNAP29	OMIM:609528
HP:0000494	Downslanted palpebral fissures	2033	EP300	ORPHA:353284
HP:0000494	Downslanted palpebral fissures	2033	EP300	OMIM:180849
HP:0000494	Downslanted palpebral fissures	2033	EP300	OMIM:613684
HP:0000494	Downslanted palpebral fissures	1289	COL5A1	OMIM:619329
HP:0000494	Downslanted palpebral fissures	3417	IDH1	ORPHA:99646
HP:0000494	Downslanted palpebral fissures	56975	FAM20C	OMIM:259775
HP:0000494	Downslanted palpebral fissures	4763	NF1	OMIM:601321
HP:0000494	Downslanted palpebral fissures	4763	NF1	ORPHA:97685
HP:0000494	Downslanted palpebral fissures	4763	NF1	ORPHA:638
HP:0000494	Downslanted palpebral fissures	83999	KREMEN1	OMIM:617392
HP:0000494	Downslanted palpebral fissures	3039	HBA1	ORPHA:98791
HP:0000494	Downslanted palpebral fissures	3040	HBA2	ORPHA:98791
HP:0000494	Downslanted palpebral fissures	51132	RLIM	OMIM:300978
HP:0000494	Downslanted palpebral fissures	8260	NAA10	OMIM:300855
HP:0000494	Downslanted palpebral fissures	8260	NAA10	ORPHA:276432
HP:0000494	Downslanted palpebral fissures	5831	PYCR1	OMIM:612940
HP:0000494	Downslanted palpebral fissures	201163	FLCN	OMIM:610883
HP:0000494	Downslanted palpebral fissures	29920	PYCR2	ORPHA:481152
HP:0000494	Downslanted palpebral fissures	29920	PYCR2	OMIM:616420
HP:0000494	Downslanted palpebral fissures	92344	GORAB	OMIM:231070
HP:0000494	Downslanted palpebral fissures	1312	COMT	ORPHA:567
HP:0000494	Downslanted palpebral fissures	221037	JMJD1C	ORPHA:567
HP:0000494	Downslanted palpebral fissures	2812	GP1BB	ORPHA:567
HP:0000494	Downslanted palpebral fissures	6239	RREB1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7290	HIRA	ORPHA:567
HP:0000494	Downslanted palpebral fissures	9632	SEC24C	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7353	UFD1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	421	ARVCF	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7136	TNNI2	OMIM:601680
HP:0000494	Downslanted palpebral fissures	1009	CDH11	OMIM:211380
HP:0000494	Downslanted palpebral fissures	1009	CDH11	ORPHA:1299
HP:0000494	Downslanted palpebral fissures	444	ASPH	OMIM:601552
HP:0000494	Downslanted palpebral fissures	7703	PCGF2	OMIM:618371
HP:0000494	Downslanted palpebral fissures	23111	SPART	ORPHA:101000
HP:0000494	Downslanted palpebral fissures	25942	SIN3A	ORPHA:94065
HP:0000494	Downslanted palpebral fissures	25942	SIN3A	OMIM:613406
HP:0000494	Downslanted palpebral fissures	9509	ADAMTS2	OMIM:225410
HP:0000494	Downslanted palpebral fissures	10524	KAT5	OMIM:619103
HP:0000494	Downslanted palpebral fissures	372	ARCN1	OMIM:617164
HP:0000494	Downslanted palpebral fissures	633	BGN	OMIM:300989
HP:0000494	Downslanted palpebral fissures	22808	MRAS	OMIM:618499
HP:0000494	Downslanted palpebral fissures	22808	MRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	26040	SETBP1	OMIM:616078
HP:0000494	Downslanted palpebral fissures	2475	MTOR	ORPHA:457485
HP:0000494	Downslanted palpebral fissures	2475	MTOR	OMIM:616638
HP:0000494	Downslanted palpebral fissures	6304	SATB1	OMIM:619229
HP:0000494	Downslanted palpebral fissures	9343	EFTUD2	OMIM:610536
HP:0000494	Downslanted palpebral fissures	23594	ORC6	OMIM:613803
HP:0000494	Downslanted palpebral fissures	7291	TWIST1	OMIM:180750
HP:0000494	Downslanted palpebral fissures	5913	RAPSN	OMIM:618388
HP:0000494	Downslanted palpebral fissures	2290	FOXG1	ORPHA:261144
HP:0000494	Downslanted palpebral fissures	285489	DOK7	OMIM:618389
HP:0000494	Downslanted palpebral fissures	134218	DNAJC21	OMIM:617052
HP:0000494	Downslanted palpebral fissures	5977	DPF2	OMIM:618027
HP:0000494	Downslanted palpebral fissures	79005	SCNM1	OMIM:620107
HP:0000494	Downslanted palpebral fissures	285590	SH3PXD2B	ORPHA:137834
HP:0000494	Downslanted palpebral fissures	285590	SH3PXD2B	OMIM:249420
HP:0000494	Downslanted palpebral fissures	10283	CWC27	OMIM:250410
HP:0000494	Downslanted palpebral fissures	10283	CWC27	ORPHA:166035
HP:0000494	Downslanted palpebral fissures	246329	STAC3	ORPHA:168572
HP:0000494	Downslanted palpebral fissures	246329	STAC3	OMIM:255995
HP:0000494	Downslanted palpebral fissures	207	AKT1	ORPHA:744
HP:0000494	Downslanted palpebral fissures	207	AKT1	OMIM:176920
HP:0000494	Downslanted palpebral fissures	11198	SUPT16H	OMIM:619480
HP:0000494	Downslanted palpebral fissures	84172	POLR1B	ORPHA:861
HP:0000494	Downslanted palpebral fissures	84172	POLR1B	OMIM:618939
HP:0000494	Downslanted palpebral fissures	51082	POLR1D	ORPHA:861
HP:0000494	Downslanted palpebral fissures	51082	POLR1D	OMIM:613717
HP:0000494	Downslanted palpebral fissures	6949	TCOF1	ORPHA:861
HP:0000494	Downslanted palpebral fissures	6949	TCOF1	OMIM:154500
HP:0000494	Downslanted palpebral fissures	7204	TRIO	OMIM:617061
HP:0000494	Downslanted palpebral fissures	7204	TRIO	OMIM:618825
HP:0000494	Downslanted palpebral fissures	5290	PIK3CA	OMIM:602501
HP:0000494	Downslanted palpebral fissures	2571	GAD1	OMIM:619124
HP:0000494	Downslanted palpebral fissures	23067	SETD1B	OMIM:619000
HP:0000494	Downslanted palpebral fissures	23112	TNRC6B	OMIM:619243
HP:0000494	Downslanted palpebral fissures	8450	CUL4B	ORPHA:85293
HP:0000494	Downslanted palpebral fissures	64093	SMOC1	OMIM:206920
HP:0000494	Downslanted palpebral fissures	22995	CEP152	OMIM:613823
HP:0000494	Downslanted palpebral fissures	22995	CEP152	ORPHA:808
HP:0000494	Downslanted palpebral fissures	93587	TRMT10A	ORPHA:391408
HP:0000494	Downslanted palpebral fissures	84919	PPP1R15B	ORPHA:391408
HP:0000494	Downslanted palpebral fissures	84919	PPP1R15B	OMIM:616817
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:613707
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:613706
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:115150
HP:0000494	Downslanted palpebral fissures	673	BRAF	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:163950
HP:0000494	Downslanted palpebral fissures	80267	EDEM3	OMIM:619493
HP:0000494	Downslanted palpebral fissures	57020	VPS35L	OMIM:619135
HP:0000494	Downslanted palpebral fissures	4781	NFIB	OMIM:618286
HP:0000494	Downslanted palpebral fissures	1984	EIF5A	OMIM:619376
HP:0000494	Downslanted palpebral fissures	2733	GLE1	OMIM:611890
HP:0000494	Downslanted palpebral fissures	8481	OFD1	OMIM:300804
HP:0000494	Downslanted palpebral fissures	8481	OFD1	OMIM:311200
HP:0000494	Downslanted palpebral fissures	8481	OFD1	ORPHA:2750
HP:0000494	Downslanted palpebral fissures	22800	RRAS2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	867	CBL	ORPHA:648
HP:0000494	Downslanted palpebral fissures	867	CBL	OMIM:613563
HP:0000494	Downslanted palpebral fissures	6237	RRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5894	RAF1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5894	RAF1	OMIM:611554
HP:0000494	Downslanted palpebral fissures	5894	RAF1	OMIM:611553
HP:0000494	Downslanted palpebral fissures	3845	KRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	3845	KRAS	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	3845	KRAS	OMIM:609942
HP:0000494	Downslanted palpebral fissures	4893	NRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	4893	NRAS	OMIM:613224
HP:0000494	Downslanted palpebral fissures	6655	SOS2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	6655	SOS2	OMIM:616559
HP:0000494	Downslanted palpebral fissures	5781	PTPN11	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5781	PTPN11	OMIM:163950
HP:0000494	Downslanted palpebral fissures	5922	RASA2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	84081	NSRP1	OMIM:620001
HP:0000494	Downslanted palpebral fissures	7474	WNT5A	OMIM:180700
HP:0000494	Downslanted palpebral fissures	7474	WNT5A	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	1855	DVL1	OMIM:180700
HP:0000494	Downslanted palpebral fissures	1855	DVL1	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	5727	PTCH1	ORPHA:77301
HP:0000494	Downslanted palpebral fissures	9897	WASHC5	ORPHA:7
HP:0000494	Downslanted palpebral fissures	9897	WASHC5	OMIM:220210
HP:0000494	Downslanted palpebral fissures	28952	CCDC22	ORPHA:7
HP:0000494	Downslanted palpebral fissures	1795	DOCK3	OMIM:618292
HP:0000494	Downslanted palpebral fissures	51626	DYNC2LI1	OMIM:617088
HP:0000494	Downslanted palpebral fissures	80704	SLC19A3	ORPHA:263410
HP:0000494	Downslanted palpebral fissures	90121	TSR2	OMIM:300946
HP:0000494	Downslanted palpebral fissures	2261	FGFR3	OMIM:602849
HP:0000494	Downslanted palpebral fissures	51109	RDH11	ORPHA:436245
HP:0000494	Downslanted palpebral fissures	7042	TGFB2	OMIM:614816
HP:0000494	Downslanted palpebral fissures	5605	MAP2K2	ORPHA:638
HP:0000494	Downslanted palpebral fissures	5605	MAP2K2	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	8243	SMC1A	OMIM:300590
HP:0000494	Downslanted palpebral fissures	8243	SMC1A	OMIM:301044
HP:0000494	Downslanted palpebral fissures	7337	UBE3A	ORPHA:238446
HP:0000494	Downslanted palpebral fissures	54084	TSPEAR	OMIM:618180
HP:0000494	Downslanted palpebral fissures	324	APC	ORPHA:261584
HP:0000494	Downslanted palpebral fissures	324	APC	ORPHA:3258
HP:0000494	Downslanted palpebral fissures	6309	SC5D	ORPHA:46059
HP:0000494	Downslanted palpebral fissures	6309	SC5D	OMIM:607330
HP:0000494	Downslanted palpebral fissures	1183	CLCN4	OMIM:300114
HP:0000494	Downslanted palpebral fissures	5034	P4HB	ORPHA:2050
HP:0000494	Downslanted palpebral fissures	23241	PACS2	OMIM:618067
HP:0000494	Downslanted palpebral fissures	26128	KIFBP	OMIM:609460
HP:0000494	Downslanted palpebral fissures	161742	SPRED1	OMIM:611431
HP:0000494	Downslanted palpebral fissures	84282	RNF135	ORPHA:137634
HP:0000494	Downslanted palpebral fissures	8854	ALDH1A2	OMIM:620025
HP:0000494	Downslanted palpebral fissures	9839	ZEB2	OMIM:235730
HP:0000494	Downslanted palpebral fissures	1299	COL9A3	OMIM:620022
HP:0000494	Downslanted palpebral fissures	64324	NSD1	ORPHA:821
HP:0000494	Downslanted palpebral fissures	64324	NSD1	OMIM:117550
HP:0000494	Downslanted palpebral fissures	64324	NSD1	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	29072	SETD2	ORPHA:821
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:620157
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:620155
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:616831
HP:0000494	Downslanted palpebral fissures	10297	APC2	ORPHA:821
HP:0000494	Downslanted palpebral fissures	4784	NFIX	ORPHA:447980
HP:0000494	Downslanted palpebral fissures	4784	NFIX	ORPHA:420179
HP:0000494	Downslanted palpebral fissures	4784	NFIX	OMIM:614753
HP:0000494	Downslanted palpebral fissures	374654	KIF7	OMIM:200990
HP:0000494	Downslanted palpebral fissures	1717	DHCR7	ORPHA:818
HP:0000494	Downslanted palpebral fissures	23431	AP4E1	OMIM:613744
HP:0000494	Downslanted palpebral fissures	25782	RAB3GAP2	OMIM:212720
HP:0000494	Downslanted palpebral fissures	5818	NECTIN1	ORPHA:3253
HP:0000494	Downslanted palpebral fissures	150468	CKAP2L	ORPHA:3255
HP:0000494	Downslanted palpebral fissures	271	AMPD2	OMIM:615809
HP:0000494	Downslanted palpebral fissures	9382	COG1	OMIM:611209
HP:0000494	Downslanted palpebral fissures	9382	COG1	ORPHA:263508
HP:0000494	Downslanted palpebral fissures	4038	LRP4	ORPHA:3258
HP:0000494	Downslanted palpebral fissures	4038	LRP4	OMIM:212780
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	OMIM:303600
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	ORPHA:276630
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	ORPHA:192
HP:0000494	Downslanted palpebral fissures	1146	CHRNG	OMIM:265000
HP:0000494	Downslanted palpebral fissures	1146	CHRNG	ORPHA:2990
HP:0000494	Downslanted palpebral fissures	9739	SETD1A	OMIM:619056
HP:0000494	Downslanted palpebral fissures	80204	FBXO11	OMIM:618089
HP:0000494	Downslanted palpebral fissures	23522	KAT6B	OMIM:606170
HP:0000494	Downslanted palpebral fissures	9184	BUB3	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	699	BUB1	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	9702	CEP57	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	9702	CEP57	OMIM:614114
HP:0000494	Downslanted palpebral fissures	9319	TRIP13	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	701	BUB1B	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	55148	UBR7	OMIM:619189
HP:0000494	Downslanted palpebral fissures	10682	EBP	ORPHA:35173
HP:0000494	Downslanted palpebral fissures	10682	EBP	OMIM:302960
HP:0000494	Downslanted palpebral fissures	55636	CHD7	OMIM:214800
HP:0000494	Downslanted palpebral fissures	4036	LRP2	ORPHA:2143
HP:0000494	Downslanted palpebral fissures	4036	LRP2	OMIM:222448
HP:0000494	Downslanted palpebral fissures	1301	COL11A1	ORPHA:2021
HP:0000494	Downslanted palpebral fissures	1302	COL11A2	ORPHA:2021
HP:0000494	Downslanted palpebral fissures	657	BMPR1A	ORPHA:79076
HP:0000494	Downslanted palpebral fissures	526	ATP6V1B2	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3756	KCNH1	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3782	KCNN3	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3265	HRAS	OMIM:218040
HP:0000494	Downslanted palpebral fissures	2697	GJA1	OMIM:257850
HP:0000494	Downslanted palpebral fissures	6234	RPS28	OMIM:606164
HP:0000494	Downslanted palpebral fissures	4953	ODC1	OMIM:619075
HP:0000494	Downslanted palpebral fissures	4953	ODC1	ORPHA:544488
HP:0000494	Downslanted palpebral fissures	197257	LDHD	OMIM:245450
HP:0000494	Downslanted palpebral fissures	1857	DVL3	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	2535	FZD2	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	6660	SOX5	OMIM:616803
HP:0000494	Downslanted palpebral fissures	26053	AUTS2	OMIM:615834
HP:0000494	Downslanted palpebral fissures	8239	USP9X	ORPHA:480880
HP:0000494	Downslanted palpebral fissures	285175	UNC80	OMIM:616801
HP:0000494	Downslanted palpebral fissures	285175	UNC80	ORPHA:371364
HP:0000494	Downslanted palpebral fissures	11128	POLR3A	OMIM:264090
HP:0000494	Downslanted palpebral fissures	8085	KMT2D	OMIM:620186
HP:0000494	Downslanted palpebral fissures	55719	SLF2	OMIM:620184
HP:0000494	Downslanted palpebral fissures	55027	HEATR3	OMIM:620072
HP:0000494	Downslanted palpebral fissures	283209	PGM2L1	OMIM:620191
HP:0000494	Downslanted palpebral fissures	78989	COLEC11	OMIM:265050
HP:0000494	Downslanted palpebral fissures	78989	COLEC11	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	4094	MAF	ORPHA:1272
HP:0000494	Downslanted palpebral fissures	4094	MAF	OMIM:601088
HP:0000494	Downslanted palpebral fissures	5594	MAPK1	OMIM:619087
HP:0000494	Downslanted palpebral fissures	23261	CAMTA1	OMIM:614756
HP:0000494	Downslanted palpebral fissures	54499	TMCO1	ORPHA:1394
HP:0000494	Downslanted palpebral fissures	10430	TMEM147	OMIM:620075
HP:0000494	Downslanted palpebral fissures	3187	HNRNPH1	OMIM:620083
HP:0000494	Downslanted palpebral fissures	51322	WAC	ORPHA:284169
HP:0000494	Downslanted palpebral fissures	81031	SLC2A10	OMIM:208050
HP:0000494	Downslanted palpebral fissures	9652	SKIC3	OMIM:222470
HP:0000494	Downslanted palpebral fissures	8504	PEX3	OMIM:614882
HP:0000494	Downslanted palpebral fissures	2146	EZH2	OMIM:277590
HP:0000494	Downslanted palpebral fissures	2146	EZH2	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	545	ATR	ORPHA:808
HP:0000494	Downslanted palpebral fissures	545	ATR	OMIM:210600
HP:0000494	Downslanted palpebral fissures	1062	CENPE	ORPHA:808
HP:0000494	Downslanted palpebral fissures	5116	PCNT	ORPHA:808
HP:0000494	Downslanted palpebral fissures	5116	PCNT	ORPHA:2637
HP:0000494	Downslanted palpebral fissures	5932	RBBP8	ORPHA:808
HP:0000494	Downslanted palpebral fissures	79902	NUP85	ORPHA:808
HP:0000494	Downslanted palpebral fissures	84126	ATRIP	ORPHA:808
HP:0000494	Downslanted palpebral fissures	55835	CENPJ	ORPHA:808
HP:0000494	Downslanted palpebral fissures	10293	TRAIP	ORPHA:808
HP:0000494	Downslanted palpebral fissures	10733	PLK4	ORPHA:808
HP:0000494	Downslanted palpebral fissures	84317	CCDC115	OMIM:616828
HP:0000494	Downslanted palpebral fissures	79791	FBXO31	OMIM:615979
HP:0000494	Downslanted palpebral fissures	157570	ESCO2	OMIM:268300
HP:0000494	Downslanted palpebral fissures	5631	PRPS1	OMIM:300661
HP:0000494	Downslanted palpebral fissures	29123	ANKRD11	OMIM:148050
HP:0000494	Downslanted palpebral fissures	22907	DHX30	OMIM:617804
HP:0000494	Downslanted palpebral fissures	51053	GMNN	OMIM:616835
HP:0000494	Downslanted palpebral fissures	2245	FGD1	ORPHA:915
HP:0000494	Downslanted palpebral fissures	2245	FGD1	OMIM:305400
HP:0000494	Downslanted palpebral fissures	6497	SKI	ORPHA:2462
HP:0000494	Downslanted palpebral fissures	6497	SKI	OMIM:182212
HP:0000494	Downslanted palpebral fissures	196528	ARID2	OMIM:617808
HP:0000494	Downslanted palpebral fissures	3720	JARID2	OMIM:620098
HP:0000494	Downslanted palpebral fissures	10075	HUWE1	OMIM:309590
HP:0000494	Downslanted palpebral fissures	5648	MASP1	OMIM:257920
HP:0000494	Downslanted palpebral fissures	5648	MASP1	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	23394	ADNP	OMIM:615873
HP:0000494	Downslanted palpebral fissures	11133	KPTN	OMIM:615637
HP:0000494	Downslanted palpebral fissures	11133	KPTN	ORPHA:397612
HP:0000494	Downslanted palpebral fissures	65062	TMEM237	OMIM:614424
HP:0000494	Downslanted palpebral fissures	23028	KDM1A	OMIM:616728
HP:0000494	Downslanted palpebral fissures	23028	KDM1A	ORPHA:477993
HP:0000494	Downslanted palpebral fissures	55593	OTUD5	OMIM:301056
HP:0000494	Downslanted palpebral fissures	4854	NOTCH3	OMIM:130720
HP:0000494	Downslanted palpebral fissures	4854	NOTCH3	ORPHA:2789
HP:0000494	Downslanted palpebral fissures	473	RERE	OMIM:616975
HP:0000494	Downslanted palpebral fissures	83479	DDX59	OMIM:174300
HP:0000494	Downslanted palpebral fissures	998	CDC42	OMIM:616737
HP:0000494	Downslanted palpebral fissures	998	CDC42	ORPHA:487796
HP:0000494	Downslanted palpebral fissures	10982	MAPRE2	OMIM:616734
HP:0000494	Downslanted palpebral fissures	4297	KMT2A	OMIM:605130
HP:0000494	Downslanted palpebral fissures	101929726	MYMX	ORPHA:1358
HP:0000494	Downslanted palpebral fissures	84679	SLC9A7	OMIM:301024
HP:0000494	Downslanted palpebral fissures	90161	HS6ST2	OMIM:301025
HP:0000494	Downslanted palpebral fissures	63035	BCORL1	OMIM:301029
HP:0000494	Downslanted palpebral fissures	1778	DYNC1H1	OMIM:614563
HP:0000494	Downslanted palpebral fissures	5604	MAP2K1	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	5604	MAP2K1	OMIM:163950
HP:0000494	Downslanted palpebral fissures	1000	CDH2	OMIM:618929
HP:0000494	Downslanted palpebral fissures	2248	FGF3	ORPHA:90024
HP:0000494	Downslanted palpebral fissures	10943	MSL3	OMIM:301032
HP:0000494	Downslanted palpebral fissures	5718	PSMD12	ORPHA:529962
HP:0000494	Downslanted palpebral fissures	2186	BPTF	ORPHA:529962
HP:0000494	Downslanted palpebral fissures	55644	OSGEP	OMIM:617729
HP:0000494	Downslanted palpebral fissures	2313	FLI1	ORPHA:2308
HP:0000494	Downslanted palpebral fissures	538	ATP7A	ORPHA:198
HP:0000494	Downslanted palpebral fissures	6628	SNRPB	OMIM:117650
HP:0000494	Downslanted palpebral fissures	8929	PHOX2B	OMIM:209880
HP:0000494	Downslanted palpebral fissures	29957	SLC25A24	OMIM:612289
HP:0000494	Downslanted palpebral fissures	91461	PKDCC	OMIM:618821
HP:0000494	Downslanted palpebral fissures	4329	ALDH6A1	OMIM:614105
HP:0000494	Downslanted palpebral fissures	80152	CENPT	OMIM:618702
HP:0000494	Downslanted palpebral fissures	8405	SPOP	OMIM:618828
HP:0000494	Downslanted palpebral fissures	26047	CNTNAP2	ORPHA:163681
HP:0000494	Downslanted palpebral fissures	23630	KCNE5	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	2182	ACSL4	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	55617	TASP1	OMIM:618950
HP:0000494	Downslanted palpebral fissures	100151683	RNU4ATAC	OMIM:616651
HP:0000494	Downslanted palpebral fissures	100151683	RNU4ATAC	ORPHA:2636
HP:0000494	Downslanted palpebral fissures	1806	DPYD	ORPHA:1675
HP:0000494	Downslanted palpebral fissures	5500	PPP1CB	OMIM:617506
HP:0000494	Downslanted palpebral fissures	113246	C12orf57	OMIM:218340
HP:0000494	Downslanted palpebral fissures	2273	FHL1	OMIM:300280
HP:0000494	Downslanted palpebral fissures	4841	NONO	ORPHA:466791
HP:0000494	Downslanted palpebral fissures	529	ATP6V1E1	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	158326	FREM1	OMIM:614485
HP:0000494	Downslanted palpebral fissures	4000	LMNA	ORPHA:1662
HP:0000494	Downslanted palpebral fissures	10269	ZMPSTE24	ORPHA:1662
HP:0000494	Downslanted palpebral fissures	8777	MPDZ	OMIM:615219
HP:0000494	Downslanted palpebral fissures	10584	COLEC10	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	3778	KCNMA1	OMIM:618729
HP:0000494	Downslanted palpebral fissures	71	ACTG1	ORPHA:2995
HP:0000494	Downslanted palpebral fissures	60	ACTB	ORPHA:2995
HP:0000494	Downslanted palpebral fissures	6223	RPS19	OMIM:105650
HP:0000494	Downslanted palpebral fissures	9469	CHST3	OMIM:245600
HP:0000494	Downslanted palpebral fissures	26229	B3GAT3	OMIM:245600
HP:0000494	Downslanted palpebral fissures	5307	PITX1	OMIM:119800
HP:0000494	Downslanted palpebral fissures	18	ABAT	OMIM:613163
HP:0000494	Downslanted palpebral fissures	3832	KIF11	OMIM:152950
HP:0000494	Downslanted palpebral fissures	7043	TGFB3	OMIM:615582
HP:0000494	Downslanted palpebral fissures	7545	ZIC1	OMIM:618736
HP:0000494	Downslanted palpebral fissures	4281	MID1	ORPHA:2745
HP:0000494	Downslanted palpebral fissures	4858	NOVA2	OMIM:618859
HP:0000494	Downslanted palpebral fissures	9181	ARHGEF2	OMIM:617523
HP:0000494	Downslanted palpebral fissures	4654	MYOD1	OMIM:618975
HP:0000494	Downslanted palpebral fissures	55753	OGDHL	OMIM:619701
HP:0000494	Downslanted palpebral fissures	58499	ZNF462	OMIM:618619
HP:0000495	Recurrent corneal erosions	8518	ELP1	OMIM:223900
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98960
HP:0000495	Recurrent corneal erosions	7045	TGFBI	OMIM:121820
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98962
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98963
HP:0000495	Recurrent corneal erosions	7045	TGFBI	OMIM:122200
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98964
HP:0000495	Recurrent corneal erosions	1497	CTNS	OMIM:219800
HP:0000495	Recurrent corneal erosions	51360	MBTPS2	OMIM:308205
HP:0000495	Recurrent corneal erosions	4166	CHST6	OMIM:217800
HP:0000495	Recurrent corneal erosions	4166	CHST6	ORPHA:98969
HP:0000495	Recurrent corneal erosions	2303	FOXC2	OMIM:153400
HP:0000495	Recurrent corneal erosions	4358	MPV17	OMIM:256810
HP:0000495	Recurrent corneal erosions	2263	FGFR2	OMIM:149730
HP:0000495	Recurrent corneal erosions	2263	FGFR2	ORPHA:2363
HP:0000495	Recurrent corneal erosions	4914	NTRK1	OMIM:256800
HP:0000495	Recurrent corneal erosions	2706	GJB2	OMIM:148210
HP:0000495	Recurrent corneal erosions	2261	FGFR3	ORPHA:2363
HP:0000495	Recurrent corneal erosions	2255	FGF10	ORPHA:2363
HP:0000495	Recurrent corneal erosions	3850	KRT3	OMIM:618767
HP:0000495	Recurrent corneal erosions	1308	COL17A1	ORPHA:293381
HP:0000498	Blepharitis	8626	TP63	OMIM:106260
HP:0000498	Blepharitis	8626	TP63	OMIM:604292
HP:0000498	Blepharitis	8626	TP63	ORPHA:69085
HP:0000498	Blepharitis	8626	TP63	ORPHA:1896
HP:0000498	Blepharitis	23476	BRD4	ORPHA:199
HP:0000498	Blepharitis	9126	SMC3	ORPHA:199
HP:0000498	Blepharitis	8243	SMC1A	ORPHA:199
HP:0000498	Blepharitis	25836	NIPBL	ORPHA:199
HP:0000498	Blepharitis	55869	HDAC8	ORPHA:199
HP:0000498	Blepharitis	5885	RAD21	ORPHA:199
HP:0000498	Blepharitis	5980	REV3L	ORPHA:570
HP:0000498	Blepharitis	23129	PLXND1	ORPHA:570
HP:0000498	Blepharitis	348	APOE	ORPHA:158029
HP:0000498	Blepharitis	6868	ADAM17	OMIM:614328
HP:0000498	Blepharitis	6868	ADAM17	ORPHA:294023
HP:0000498	Blepharitis	7454	WAS	ORPHA:906
HP:0000498	Blepharitis	7456	WIPF1	ORPHA:906
HP:0000498	Blepharitis	1736	DKC1	OMIM:305000
HP:0000498	Blepharitis	1736	DKC1	ORPHA:1775
HP:0000498	Blepharitis	10095	ARPC1B	OMIM:617718
HP:0000498	Blepharitis	79650	USB1	OMIM:604173
HP:0000498	Blepharitis	79650	USB1	ORPHA:1775
HP:0000498	Blepharitis	6768	ST14	OMIM:602400
HP:0000498	Blepharitis	55630	SLC39A4	ORPHA:37
HP:0000498	Blepharitis	23556	PIGN	ORPHA:280633
HP:0000498	Blepharitis	9496	TBX4	ORPHA:261279
HP:0000498	Blepharitis	80169	CTC1	ORPHA:1775
HP:0000498	Blepharitis	26277	TINF2	ORPHA:1775
HP:0000498	Blepharitis	55651	NHP2	ORPHA:1775
HP:0000498	Blepharitis	55135	WRAP53	ORPHA:1775
HP:0000498	Blepharitis	51750	RTEL1	ORPHA:1775
HP:0000498	Blepharitis	4869	NPM1	ORPHA:1775
HP:0000498	Blepharitis	7012	TERC	ORPHA:1775
HP:0000498	Blepharitis	55505	NOP10	ORPHA:1775
HP:0000498	Blepharitis	5073	PARN	ORPHA:1775
HP:0000498	Blepharitis	7015	TERT	ORPHA:1775
HP:0000498	Blepharitis	7298	TYMS	ORPHA:1775
HP:0000498	Blepharitis	5333	PLCD1	ORPHA:2387
HP:0000498	Blepharitis	10758	TRAF3IP2	OMIM:615527
HP:0000498	Blepharitis	1474	CST6	OMIM:618535
HP:0000498	Blepharitis	6307	MSMO1	OMIM:616834
HP:0000498	Blepharitis	1956	EGFR	ORPHA:294023
HP:0000498	Blepharitis	2068	ERCC2	ORPHA:910
HP:0000498	Blepharitis	7507	XPA	ORPHA:910
HP:0000498	Blepharitis	2071	ERCC3	ORPHA:910
HP:0000498	Blepharitis	7508	XPC	ORPHA:910
HP:0000498	Blepharitis	1643	DDB2	ORPHA:910
HP:0000498	Blepharitis	2072	ERCC4	ORPHA:910
HP:0000498	Blepharitis	2073	ERCC5	ORPHA:910
HP:0000498	Blepharitis	51360	MBTPS2	OMIM:300918
HP:0000498	Blepharitis	10804	GJB6	ORPHA:477
HP:0000498	Blepharitis	2706	GJB2	ORPHA:477
HP:0000498	Blepharitis	6720	SREBF1	OMIM:619016
HP:0000498	Blepharitis	7390	UROS	ORPHA:79277
HP:0000498	Blepharitis	2623	GATA1	ORPHA:79277
HP:0000498	Blepharitis	7389	UROD	ORPHA:95159
HP:0033509	EBV encephalitis	939	CD27	OMIM:615122
HP:0033508	EBV meningitis	939	CD27	OMIM:615122
HP:0007650	Progressive ophthalmoplegia	64221	ROBO3	OMIM:607313
HP:0007651	Ectropion of lower eyelids	1748	DLX4	OMIM:616788
HP:0007651	Ectropion of lower eyelids	1723	DHODH	ORPHA:246
HP:0007651	Ectropion of lower eyelids	23394	ADNP	OMIM:615873
HP:0007651	Ectropion of lower eyelids	6045	RNF2	OMIM:619460
HP:0007651	Ectropion of lower eyelids	1954	MEGF8	OMIM:614976
HP:0007651	Ectropion of lower eyelids	999	CDH1	OMIM:119580
HP:0007651	Ectropion of lower eyelids	999	CDH1	ORPHA:1997
HP:0007651	Ectropion of lower eyelids	1500	CTNND1	OMIM:617681
HP:0007651	Ectropion of lower eyelids	1500	CTNND1	ORPHA:1997
HP:0007924	Slow decrease in visual acuity	10059	DNM1L	OMIM:610708
HP:0007924	Slow decrease in visual acuity	7045	TGFBI	ORPHA:98960
HP:0007924	Slow decrease in visual acuity	7045	TGFBI	ORPHA:98964
HP:0007924	Slow decrease in visual acuity	79152	FA2H	ORPHA:329308
HP:0007924	Slow decrease in visual acuity	84839	RAX2	OMIM:610381
HP:0007924	Slow decrease in visual acuity	94137	RP1L1	OMIM:613587
HP:0007924	Slow decrease in visual acuity	8314	BAP1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	4771	NF2	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6598	SMARCB1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	5155	PDGFB	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	84231	TRAF7	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6608	SMO	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	207	AKT1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	5290	PIK3CA	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	7015	TERT	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	51684	SUFU	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6605	SMARCE1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	9927	MFN2	OMIM:601152
HP:0007924	Slow decrease in visual acuity	84277	DNAJC30	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4535	MT-ND1	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4536	MT-ND2	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4538	MT-ND4	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4720	NDUFS2	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4512	MT-CO1	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4514	MT-CO3	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4519	MT-CYB	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4508	MT-ATP6	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4540	MT-ND5	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4541	MT-ND6	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4539	MT-ND4L	ORPHA:104
HP:0007924	Slow decrease in visual acuity	5961	PRPH2	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	3000	GUCY2D	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	2978	GUCA1A	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	1499	CTNNB1	ORPHA:54595
HP:0007924	Slow decrease in visual acuity	673	BRAF	ORPHA:54595
HP:0000662	Nyctalopia	7287	TULP1	OMIM:600132
HP:0000662	Nyctalopia	7287	TULP1	OMIM:613843
HP:0000662	Nyctalopia	26121	PRPF31	OMIM:600138
HP:0000662	Nyctalopia	1121	CHM	OMIM:303100
HP:0000662	Nyctalopia	1121	CHM	ORPHA:180
HP:0000662	Nyctalopia	5949	RBP3	OMIM:615233
HP:0000662	Nyctalopia	5949	RBP3	OMIM:268000
HP:0000662	Nyctalopia	9785	DHX38	OMIM:618220
HP:0000662	Nyctalopia	4598	MVK	OMIM:260920
HP:0000662	Nyctalopia	26160	IFT172	OMIM:615630
HP:0000662	Nyctalopia	26160	IFT172	OMIM:619471
HP:0000662	Nyctalopia	26160	IFT172	OMIM:616394
HP:0000662	Nyctalopia	2677	GGCX	ORPHA:436274
HP:0000662	Nyctalopia	8842	PROM1	ORPHA:827
HP:0000662	Nyctalopia	8842	PROM1	OMIM:612095
HP:0000662	Nyctalopia	8842	PROM1	ORPHA:1872
HP:0000662	Nyctalopia	8842	PROM1	OMIM:612657
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:827
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:608133
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:1872
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:52427
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:169150
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:75377
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:136880
HP:0000662	Nyctalopia	6785	ELOVL4	ORPHA:827
HP:0000662	Nyctalopia	24	ABCA4	ORPHA:827
HP:0000662	Nyctalopia	24	ABCA4	ORPHA:1872
HP:0000662	Nyctalopia	24	ABCA4	OMIM:601718
HP:0000662	Nyctalopia	54714	CNGB3	ORPHA:827
HP:0000662	Nyctalopia	6010	RHO	OMIM:613731
HP:0000662	Nyctalopia	6010	RHO	ORPHA:52427
HP:0000662	Nyctalopia	6010	RHO	ORPHA:215
HP:0000662	Nyctalopia	6010	RHO	OMIM:136880
HP:0000662	Nyctalopia	130557	ZNF513	OMIM:613617
HP:0000662	Nyctalopia	6094	ROM1	OMIM:608133
HP:0000662	Nyctalopia	6094	ROM1	OMIM:268000
HP:0000662	Nyctalopia	80270	HSD3B7	ORPHA:79301
HP:0000662	Nyctalopia	49855	SCAPER	OMIM:618195
HP:0000662	Nyctalopia	84100	ARL6	OMIM:268000
HP:0000662	Nyctalopia	84100	ARL6	OMIM:209900
HP:0000662	Nyctalopia	84100	ARL6	OMIM:600151
HP:0000662	Nyctalopia	9227	LRAT	OMIM:268000
HP:0000662	Nyctalopia	9227	LRAT	ORPHA:364055
HP:0000662	Nyctalopia	9227	LRAT	OMIM:613341
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:268000
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:276902
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:614180
HP:0000662	Nyctalopia	7401	CLRN1	ORPHA:231183
HP:0000662	Nyctalopia	5148	PDE6G	OMIM:268000
HP:0000662	Nyctalopia	1259	CNGA1	OMIM:268000
HP:0000662	Nyctalopia	1259	CNGA1	OMIM:613756
HP:0000662	Nyctalopia	23746	AIPL1	OMIM:268000
HP:0000662	Nyctalopia	23746	AIPL1	ORPHA:1872
HP:0000662	Nyctalopia	23746	AIPL1	OMIM:604393
HP:0000662	Nyctalopia	1406	CRX	OMIM:268000
HP:0000662	Nyctalopia	1406	CRX	ORPHA:1872
HP:0000662	Nyctalopia	1406	CRX	OMIM:120970
HP:0000662	Nyctalopia	157657	CFAP418	OMIM:268000
HP:0000662	Nyctalopia	157657	CFAP418	ORPHA:1872
HP:0000662	Nyctalopia	157657	CFAP418	OMIM:614500
HP:0000662	Nyctalopia	55812	SPATA7	ORPHA:364055
HP:0000662	Nyctalopia	55812	SPATA7	OMIM:604232
HP:0000662	Nyctalopia	6121	RPE65	ORPHA:364055
HP:0000662	Nyctalopia	6121	RPE65	OMIM:204100
HP:0000662	Nyctalopia	6121	RPE65	OMIM:613794
HP:0000662	Nyctalopia	167691	LCA5	ORPHA:364055
HP:0000662	Nyctalopia	9742	IFT140	OMIM:617781
HP:0000662	Nyctalopia	114902	C1QTNF5	ORPHA:67042
HP:0000662	Nyctalopia	6017	RLBP1	ORPHA:85128
HP:0000662	Nyctalopia	6017	RLBP1	ORPHA:52427
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:607476
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:607475
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:136880
HP:0000662	Nyctalopia	100151683	RNU4ATAC	OMIM:226960
HP:0000662	Nyctalopia	83715	ESPN	OMIM:618632
HP:0000662	Nyctalopia	83715	ESPN	ORPHA:231169
HP:0000662	Nyctalopia	5191	PEX7	OMIM:266500
HP:0000662	Nyctalopia	5191	PEX7	OMIM:614879
HP:0000662	Nyctalopia	5191	PEX7	ORPHA:773
HP:0000662	Nyctalopia	5264	PHYH	OMIM:266500
HP:0000662	Nyctalopia	5264	PHYH	ORPHA:773
HP:0000662	Nyctalopia	50939	IMPG2	OMIM:613581
HP:0000662	Nyctalopia	83552	MFRP	OMIM:611040
HP:0000662	Nyctalopia	5322	PLA2G5	OMIM:228980
HP:0000662	Nyctalopia	2784	GNB3	OMIM:617024
HP:0000662	Nyctalopia	2784	GNB3	ORPHA:215
HP:0000662	Nyctalopia	60509	AGBL5	OMIM:617023
HP:0000662	Nyctalopia	8882	ZPR1	OMIM:619321
HP:0000662	Nyctalopia	755	CFAP410	OMIM:617547
HP:0000662	Nyctalopia	755	CFAP410	ORPHA:1872
HP:0000662	Nyctalopia	123016	TTC8	OMIM:613464
HP:0000662	Nyctalopia	24148	PRPF6	OMIM:613983
HP:0000662	Nyctalopia	92840	REEP6	OMIM:617304
HP:0000662	Nyctalopia	22926	ATF6	ORPHA:1872
HP:0000662	Nyctalopia	64802	NMNAT1	ORPHA:1872
HP:0000662	Nyctalopia	64802	NMNAT1	OMIM:608553
HP:0000662	Nyctalopia	84839	RAX2	ORPHA:1872
HP:0000662	Nyctalopia	57096	RPGRIP1	ORPHA:1872
HP:0000662	Nyctalopia	1261	CNGA3	ORPHA:1872
HP:0000662	Nyctalopia	1261	CNGA3	OMIM:216900
HP:0000662	Nyctalopia	92211	CDHR1	ORPHA:1872
HP:0000662	Nyctalopia	92211	CDHR1	OMIM:613660
HP:0000662	Nyctalopia	5956	OPN1LW	ORPHA:1872
HP:0000662	Nyctalopia	778	CACNA1F	ORPHA:1872
HP:0000662	Nyctalopia	778	CACNA1F	ORPHA:215
HP:0000662	Nyctalopia	8754	ADAM9	ORPHA:1872
HP:0000662	Nyctalopia	3000	GUCY2D	ORPHA:1872
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:601777
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:618555
HP:0000662	Nyctalopia	3000	GUCY2D	ORPHA:75377
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:204000
HP:0000662	Nyctalopia	22999	RIMS1	ORPHA:1872
HP:0000662	Nyctalopia	128338	DRAM2	ORPHA:1872
HP:0000662	Nyctalopia	128338	DRAM2	OMIM:616502
HP:0000662	Nyctalopia	6103	RPGR	ORPHA:1872
HP:0000662	Nyctalopia	6103	RPGR	OMIM:304020
HP:0000662	Nyctalopia	6103	RPGR	OMIM:300029
HP:0000662	Nyctalopia	2652	OPN1MW	ORPHA:1872
HP:0000662	Nyctalopia	9094	UNC119	ORPHA:1872
HP:0000662	Nyctalopia	93589	CACNA2D4	ORPHA:1872
HP:0000662	Nyctalopia	93589	CACNA2D4	ORPHA:215
HP:0000662	Nyctalopia	2978	GUCA1A	ORPHA:1872
HP:0000662	Nyctalopia	2978	GUCA1A	ORPHA:75377
HP:0000662	Nyctalopia	282809	POC1B	ORPHA:1872
HP:0000662	Nyctalopia	64218	SEMA4A	ORPHA:1872
HP:0000662	Nyctalopia	64218	SEMA4A	OMIM:610282
HP:0000662	Nyctalopia	64218	SEMA4A	OMIM:610283
HP:0000662	Nyctalopia	83394	PITPNM3	ORPHA:1872
HP:0000662	Nyctalopia	23093	TTLL5	ORPHA:1872
HP:0000662	Nyctalopia	83723	TLCD3B	ORPHA:1872
HP:0000662	Nyctalopia	9364	RAB28	ORPHA:1872
HP:0000662	Nyctalopia	10461	MERTK	OMIM:613862
HP:0000662	Nyctalopia	79947	DHDDS	OMIM:613861
HP:0000662	Nyctalopia	9128	PRPF4	OMIM:615922
HP:0000662	Nyctalopia	169522	KCNV2	OMIM:610356
HP:0000662	Nyctalopia	84140	FAM161A	OMIM:606068
HP:0000662	Nyctalopia	23020	SNRNP200	OMIM:610359
HP:0000662	Nyctalopia	346007	EYS	OMIM:602772
HP:0000662	Nyctalopia	28982	FLVCR1	ORPHA:88628
HP:0000662	Nyctalopia	28982	FLVCR1	OMIM:609033
HP:0000662	Nyctalopia	7439	BEST1	OMIM:613194
HP:0000662	Nyctalopia	7439	BEST1	OMIM:193220
HP:0000662	Nyctalopia	23370	ARHGEF18	OMIM:617433
HP:0000662	Nyctalopia	79797	ZNF408	OMIM:616469
HP:0000662	Nyctalopia	4901	NRL	OMIM:613750
HP:0000662	Nyctalopia	3423	IDS	ORPHA:217085
HP:0000662	Nyctalopia	3423	IDS	ORPHA:217093
HP:0000662	Nyctalopia	80201	HKDC1	OMIM:619614
HP:0000662	Nyctalopia	51109	RDH11	OMIM:616108
HP:0000662	Nyctalopia	7123	CLEC3B	OMIM:619977
HP:0000662	Nyctalopia	79140	CCDC28B	OMIM:209900
HP:0000662	Nyctalopia	582	BBS1	OMIM:209900
HP:0000662	Nyctalopia	26504	CNNM4	OMIM:217080
HP:0000662	Nyctalopia	6295	SAG	OMIM:613758
HP:0000662	Nyctalopia	6295	SAG	ORPHA:215
HP:0000662	Nyctalopia	6100	RP9	OMIM:180104
HP:0000662	Nyctalopia	6102	RP2	OMIM:312600
HP:0000662	Nyctalopia	3614	IMPDH1	OMIM:180105
HP:0000662	Nyctalopia	157680	VPS13B	OMIM:216550
HP:0000662	Nyctalopia	4547	MTTP	ORPHA:14
HP:0000662	Nyctalopia	10002	NR2E3	OMIM:268100
HP:0000662	Nyctalopia	10002	NR2E3	OMIM:611131
HP:0000662	Nyctalopia	7274	TTPA	ORPHA:96
HP:0000662	Nyctalopia	23418	CRB1	OMIM:600105
HP:0000662	Nyctalopia	9445	ITM2B	OMIM:616079
HP:0000662	Nyctalopia	55857	KIZ	OMIM:615780
HP:0000662	Nyctalopia	5950	RBP4	OMIM:615147
HP:0000662	Nyctalopia	1258	CNGB1	OMIM:613767
HP:0000662	Nyctalopia	5158	PDE6B	OMIM:613801
HP:0000662	Nyctalopia	5158	PDE6B	ORPHA:215
HP:0000662	Nyctalopia	1798	DPAGT1	ORPHA:86309
HP:0000662	Nyctalopia	7399	USH2A	ORPHA:231178
HP:0000662	Nyctalopia	79955	PDZD7	ORPHA:231178
HP:0000662	Nyctalopia	4647	MYO7A	ORPHA:231178
HP:0000662	Nyctalopia	4647	MYO7A	ORPHA:231169
HP:0000662	Nyctalopia	25861	WHRN	ORPHA:231178
HP:0000662	Nyctalopia	25861	WHRN	OMIM:611383
HP:0000662	Nyctalopia	84059	ADGRV1	ORPHA:231178
HP:0000662	Nyctalopia	10594	PRPF8	OMIM:600059
HP:0000662	Nyctalopia	25794	FSCN2	OMIM:607921
HP:0000662	Nyctalopia	4117	MAK	OMIM:614181
HP:0000662	Nyctalopia	3769	KCNJ13	OMIM:614186
HP:0000662	Nyctalopia	22901	ARSG	OMIM:618144
HP:0000662	Nyctalopia	22901	ARSG	ORPHA:231183
HP:0000662	Nyctalopia	94137	RP1L1	OMIM:618826
HP:0000662	Nyctalopia	285440	CYP4V2	ORPHA:41751
HP:0000662	Nyctalopia	5149	PDE6H	OMIM:610024
HP:0000662	Nyctalopia	5145	PDE6A	OMIM:613810
HP:0000662	Nyctalopia	10283	CWC27	OMIM:250410
HP:0000662	Nyctalopia	10283	CWC27	ORPHA:166035
HP:0000662	Nyctalopia	25839	COG4	OMIM:618150
HP:0000662	Nyctalopia	9129	PRPF3	OMIM:601414
HP:0000662	Nyctalopia	6101	RP1	OMIM:180100
HP:0000662	Nyctalopia	5959	RDH5	ORPHA:52427
HP:0000662	Nyctalopia	5959	RDH5	OMIM:136880
HP:0000662	Nyctalopia	2916	GRM6	OMIM:257270
HP:0000662	Nyctalopia	2916	GRM6	ORPHA:215
HP:0000662	Nyctalopia	3098	HK1	OMIM:617460
HP:0000662	Nyctalopia	56623	INPP5E	OMIM:610156
HP:0000662	Nyctalopia	3419	IDH3A	OMIM:619007
HP:0000662	Nyctalopia	57709	SLC7A14	OMIM:615725
HP:0000662	Nyctalopia	7078	TIMP3	ORPHA:59181
HP:0000662	Nyctalopia	9371	KIF3B	OMIM:618955
HP:0000662	Nyctalopia	388939	PCARE	OMIM:613428
HP:0000662	Nyctalopia	2799	GNS	OMIM:252940
HP:0000662	Nyctalopia	4308	TRPM1	ORPHA:215
HP:0000662	Nyctalopia	57010	CABP4	ORPHA:215
HP:0000662	Nyctalopia	345193	LRIT3	ORPHA:215
HP:0000662	Nyctalopia	345193	LRIT3	OMIM:615058
HP:0000662	Nyctalopia	440435	GPR179	ORPHA:215
HP:0000662	Nyctalopia	6011	GRK1	ORPHA:215
HP:0000662	Nyctalopia	9187	SLC24A1	ORPHA:215
HP:0000662	Nyctalopia	2779	GNAT1	ORPHA:215
HP:0000662	Nyctalopia	60506	NYX	ORPHA:215
HP:0000662	Nyctalopia	4575	MT-TS2	ORPHA:231183
HP:0000662	Nyctalopia	3035	HARS1	ORPHA:231183
HP:0000662	Nyctalopia	84131	CEP78	ORPHA:231183
HP:0000662	Nyctalopia	55670	PEX26	ORPHA:772
HP:0000662	Nyctalopia	5824	PEX19	ORPHA:772
HP:0000662	Nyctalopia	5828	PEX2	ORPHA:772
HP:0000662	Nyctalopia	8504	PEX3	ORPHA:772
HP:0000662	Nyctalopia	9409	PEX16	ORPHA:772
HP:0000662	Nyctalopia	5190	PEX6	ORPHA:772
HP:0000662	Nyctalopia	8799	PEX11B	ORPHA:772
HP:0000662	Nyctalopia	5830	PEX5	ORPHA:772
HP:0000662	Nyctalopia	5189	PEX1	ORPHA:772
HP:0000662	Nyctalopia	5193	PEX12	ORPHA:772
HP:0000662	Nyctalopia	5194	PEX13	ORPHA:772
HP:0000662	Nyctalopia	5195	PEX14	ORPHA:772
HP:0000662	Nyctalopia	5192	PEX10	ORPHA:772
HP:0000662	Nyctalopia	403	ARL3	OMIM:618161
HP:0000662	Nyctalopia	403	ARL3	OMIM:618173
HP:0000662	Nyctalopia	112752	IFT43	OMIM:617871
HP:0000662	Nyctalopia	8565	YARS1	OMIM:619418
HP:0000662	Nyctalopia	138050	HGSNAT	OMIM:616544
HP:0000662	Nyctalopia	4942	OAT	OMIM:258870
HP:0000662	Nyctalopia	3030	HADHA	ORPHA:5
HP:0000662	Nyctalopia	64072	CDH23	ORPHA:231169
HP:0000662	Nyctalopia	10083	USH1C	ORPHA:231169
HP:0000662	Nyctalopia	124590	USH1G	ORPHA:231169
HP:0000662	Nyctalopia	10518	CIB2	ORPHA:231169
HP:0000662	Nyctalopia	65217	PCDH15	ORPHA:231169
HP:0000662	Nyctalopia	23155	CLCC1	OMIM:609913
HP:0000662	Nyctalopia	23404	EXOSC2	OMIM:617763
HP:0000662	Nyctalopia	55624	POMGNT1	OMIM:617123
HP:0000662	Nyctalopia	57728	WDR19	OMIM:614378
HP:0000662	Nyctalopia	585	BBS4	OMIM:615982
HP:0000662	Nyctalopia	4327	MMP19	OMIM:611543
HP:0000662	Nyctalopia	57670	KIAA1549	OMIM:618613
HP:0000662	Nyctalopia	51095	TRNT1	OMIM:616959
HP:0000662	Nyctalopia	9927	MFN2	ORPHA:99947
HP:0000662	Nyctalopia	6786	STIM1	OMIM:160565
HP:0000662	Nyctalopia	6935	ZEB1	ORPHA:98974
HP:0000662	Nyctalopia	123624	AGBL1	ORPHA:98974
HP:0000662	Nyctalopia	6925	TCF4	ORPHA:98974
HP:0000662	Nyctalopia	83959	SLC4A11	ORPHA:98974
HP:0000662	Nyctalopia	1296	COL8A2	ORPHA:98974
HP:0000662	Nyctalopia	4646	MYO6	OMIM:607821
HP:0000662	Nyctalopia	2263	FGFR2	ORPHA:313855
HP:0000662	Nyctalopia	83696	TRAPPC9	ORPHA:352530
HP:0000662	Nyctalopia	23568	ARL2BP	ORPHA:791
HP:0000662	Nyctalopia	54806	AHI1	ORPHA:791
HP:0000662	Nyctalopia	4751	NEK2	ORPHA:791
HP:0000662	Nyctalopia	8100	IFT88	ORPHA:791
HP:0000662	Nyctalopia	762	CA4	ORPHA:791
HP:0000662	Nyctalopia	196	AHR	ORPHA:791
HP:0000662	Nyctalopia	196	AHR	OMIM:618345
HP:0000662	Nyctalopia	583	BBS2	ORPHA:791
HP:0000662	Nyctalopia	375298	CERKL	ORPHA:791
HP:0000662	Nyctalopia	3420	IDH3B	ORPHA:791
HP:0000662	Nyctalopia	7275	TUB	ORPHA:791
HP:0000662	Nyctalopia	768206	PRCD	ORPHA:791
HP:0000662	Nyctalopia	10210	TOPORS	ORPHA:791
HP:0000662	Nyctalopia	145226	RDH12	ORPHA:791
HP:0000662	Nyctalopia	8481	OFD1	ORPHA:791
HP:0000662	Nyctalopia	2979	GUCA1B	ORPHA:791
HP:0000662	Nyctalopia	5995	RGR	ORPHA:791
HP:0000662	Nyctalopia	55975	KLHL7	ORPHA:791
HP:0000662	Nyctalopia	3617	IMPG1	ORPHA:791
HP:0000662	Nyctalopia	5456	POU3F4	ORPHA:1435
HP:0007922	Hypermyelinated retinal nerve fibers	1593	CYP27A1	ORPHA:909
HP:0007922	Hypermyelinated retinal nerve fibers	26278	SACS	ORPHA:98
HP:0007922	Hypermyelinated retinal nerve fibers	26278	SACS	OMIM:270550
HP:0007922	Hypermyelinated retinal nerve fibers	5159	PDGFRB	OMIM:601812
HP:0007655	Eversion of lateral third of lower eyelids	3190	HNRNPK	ORPHA:453504
HP:0007655	Eversion of lateral third of lower eyelids	3190	HNRNPK	ORPHA:352665
HP:0007655	Eversion of lateral third of lower eyelids	998	CDC42	ORPHA:487796
HP:0007655	Eversion of lateral third of lower eyelids	998	CDC42	OMIM:616737
HP:0007655	Eversion of lateral third of lower eyelids	8085	KMT2D	ORPHA:2322
HP:0007655	Eversion of lateral third of lower eyelids	8085	KMT2D	OMIM:147920
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	ORPHA:2322
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	OMIM:300867
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	OMIM:147920
HP:0007655	Eversion of lateral third of lower eyelids	2892	GRIA3	ORPHA:364028
HP:0007655	Eversion of lateral third of lower eyelids	4297	KMT2A	OMIM:605130
HP:0007656	Lacrimal gland aplasia	2263	FGFR2	OMIM:149730
HP:0007656	Lacrimal gland aplasia	2263	FGFR2	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2261	FGFR3	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2255	FGF10	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2255	FGF10	OMIM:180920
HP:0007656	Lacrimal gland aplasia	668	FOXL2	ORPHA:572333
HP:0007657	Diffuse nuclear cataract	7431	VIM	OMIM:116300
HP:0007658	Large hyperpigmented retinal spots	726	CAPN5	OMIM:193235
HP:0200096	Triangular-shaped open mouth	56623	INPP5E	OMIM:213300
HP:0200096	Triangular-shaped open mouth	6638	SNRPN	ORPHA:177907
HP:0010698	Nuclear pulverulent cataract	2702	GJA5	OMIM:612474
HP:0010698	Nuclear pulverulent cataract	2703	GJA8	OMIM:612474
HP:0010698	Nuclear pulverulent cataract	1420	CRYGC	OMIM:604307
HP:0010698	Nuclear pulverulent cataract	1415	CRYBB2	OMIM:601547
HP:0007661	Abnormality of chorioretinal pigmentation	7439	BEST1	OMIM:193220
HP:0007661	Abnormality of chorioretinal pigmentation	65082	VPS33A	OMIM:617303
HP:0007661	Abnormality of chorioretinal pigmentation	6492	SIM1	ORPHA:398079
HP:0007661	Abnormality of chorioretinal pigmentation	54551	MAGEL2	ORPHA:398069
HP:0007661	Abnormality of chorioretinal pigmentation	3458	IFNG	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	7248	TSC1	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	7249	TSC2	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	7490	WT1	OMIM:106210
HP:0007661	Abnormality of chorioretinal pigmentation	5080	PAX6	OMIM:106210
HP:0007661	Abnormality of chorioretinal pigmentation	1638	DCT	OMIM:619165
HP:0007661	Abnormality of chorioretinal pigmentation	10166	SLC25A15	ORPHA:415
HP:0007661	Abnormality of chorioretinal pigmentation	125988	MICOS13	OMIM:618329
HP:0007661	Abnormality of chorioretinal pigmentation	4942	OAT	ORPHA:414
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411641
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219800
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219900
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411634
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411629
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219750
HP:0007759	Opacification of the corneal stroma	80781	COL18A1	OMIM:267750
HP:0007759	Opacification of the corneal stroma	8671	SLC4A4	OMIM:604278
HP:0007759	Opacification of the corneal stroma	64127	NOD2	OMIM:186580
HP:0007759	Opacification of the corneal stroma	30813	VSX1	OMIM:614195
HP:0007759	Opacification of the corneal stroma	6775	STAT4	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	3560	IL2RB	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	79722	ANKRD55	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	26191	PTPN22	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	919	CD247	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	3559	IL2RA	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	5771	PTPN2	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	58495	OVOL2	OMIM:122000
HP:0007759	Opacification of the corneal stroma	182	JAG1	OMIM:118450
HP:0007759	Opacification of the corneal stroma	2778	GNAS	ORPHA:79443
HP:0007759	Opacification of the corneal stroma	11081	KERA	OMIM:217300
HP:0007759	Opacification of the corneal stroma	55315	SLC29A3	OMIM:602782
HP:0007759	Opacification of the corneal stroma	55315	SLC29A3	ORPHA:168569
HP:0007759	Opacification of the corneal stroma	255738	PCSK9	OMIM:603776
HP:0007759	Opacification of the corneal stroma	338	APOB	OMIM:144010
HP:0007759	Opacification of the corneal stroma	336	APOA2	OMIM:143890
HP:0007759	Opacification of the corneal stroma	2053	EPHX2	OMIM:143890
HP:0007759	Opacification of the corneal stroma	10842	PPP1R17	OMIM:143890
HP:0007759	Opacification of the corneal stroma	2690	GHR	OMIM:143890
HP:0007759	Opacification of the corneal stroma	3949	LDLR	OMIM:143890
HP:0007759	Opacification of the corneal stroma	3990	LIPC	OMIM:614025
HP:0007759	Opacification of the corneal stroma	91851	CHRDL1	OMIM:309300
HP:0007759	Opacification of the corneal stroma	5832	ALDH18A1	OMIM:219150
HP:0007759	Opacification of the corneal stroma	348	APOE	ORPHA:412
HP:0007759	Opacification of the corneal stroma	64241	ABCG8	OMIM:210250
HP:0007759	Opacification of the corneal stroma	5309	PITX3	OMIM:107250
HP:0007759	Opacification of the corneal stroma	2074	ERCC6	OMIM:133540
HP:0007759	Opacification of the corneal stroma	83959	SLC4A11	OMIM:217700
HP:0007759	Opacification of the corneal stroma	83959	SLC4A11	OMIM:217400
HP:0007759	Opacification of the corneal stroma	6309	SC5D	ORPHA:46059
HP:0007759	Opacification of the corneal stroma	6309	SC5D	OMIM:607330
HP:0007759	Opacification of the corneal stroma	59341	TRPV4	OMIM:184095
HP:0007759	Opacification of the corneal stroma	2588	GALNS	OMIM:253000
HP:0007759	Opacification of the corneal stroma	5080	PAX6	ORPHA:2334
HP:0007759	Opacification of the corneal stroma	5080	PAX6	ORPHA:708
HP:0007759	Opacification of the corneal stroma	5080	PAX6	OMIM:148190
HP:0007759	Opacification of the corneal stroma	5080	PAX6	OMIM:106210
HP:0007759	Opacification of the corneal stroma	114548	NLRP3	OMIM:148200
HP:0007759	Opacification of the corneal stroma	5828	PEX2	OMIM:614866
HP:0007759	Opacification of the corneal stroma	4166	CHST6	ORPHA:98969
HP:0007759	Opacification of the corneal stroma	19	ABCA1	OMIM:205400
HP:0007759	Opacification of the corneal stroma	19	ABCA1	ORPHA:425
HP:0007759	Opacification of the corneal stroma	55624	POMGNT1	OMIM:253280
HP:0007759	Opacification of the corneal stroma	1545	CYP1B1	ORPHA:708
HP:0007759	Opacification of the corneal stroma	2301	FOXE3	ORPHA:708
HP:0007759	Opacification of the corneal stroma	5308	PITX2	ORPHA:708
HP:0007759	Opacification of the corneal stroma	2296	FOXC1	ORPHA:708
HP:0007759	Opacification of the corneal stroma	84942	WDR73	OMIM:251300
HP:0007759	Opacification of the corneal stroma	4693	NDP	OMIM:310600
HP:0007759	Opacification of the corneal stroma	5830	PEX5	OMIM:214110
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	ORPHA:98963
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	ORPHA:98960
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	OMIM:608470
HP:0007759	Opacification of the corneal stroma	335	APOA1	ORPHA:425
HP:0007759	Opacification of the corneal stroma	6720	SREBF1	OMIM:158310
HP:0007759	Opacification of the corneal stroma	51360	MBTPS2	OMIM:308205
HP:0007759	Opacification of the corneal stroma	2312	FLG	ORPHA:461
HP:0007759	Opacification of the corneal stroma	412	STS	ORPHA:461
HP:0007759	Opacification of the corneal stroma	412	STS	OMIM:308100
HP:0007759	Opacification of the corneal stroma	51715	RAB23	OMIM:201000
HP:0007759	Opacification of the corneal stroma	11041	B4GAT1	OMIM:615287
HP:0007759	Opacification of the corneal stroma	162514	TRPV3	OMIM:614594
HP:0007759	Opacification of the corneal stroma	2720	GLB1	OMIM:230650
HP:0007759	Opacification of the corneal stroma	2720	GLB1	OMIM:253010
HP:0007759	Opacification of the corneal stroma	100506658	OCLN	OMIM:251290
HP:0007759	Opacification of the corneal stroma	50485	SMARCAL1	OMIM:242900
HP:0007759	Opacification of the corneal stroma	326	AIRE	ORPHA:3453
HP:0007759	Opacification of the corneal stroma	1161	ERCC8	OMIM:216400
HP:0007759	Opacification of the corneal stroma	79158	GNPTAB	OMIM:252500
HP:0007759	Opacification of the corneal stroma	79158	GNPTAB	OMIM:252600
HP:0007759	Opacification of the corneal stroma	5476	CTSA	OMIM:256540
HP:0007759	Opacification of the corneal stroma	5189	PEX1	OMIM:214100
HP:0007759	Opacification of the corneal stroma	427	ASAH1	ORPHA:333
HP:0007759	Opacification of the corneal stroma	84572	GNPTG	OMIM:252605
HP:0007759	Opacification of the corneal stroma	3423	IDS	OMIM:309900
HP:0007759	Opacification of the corneal stroma	4668	NAGA	ORPHA:79280
HP:0007759	Opacification of the corneal stroma	57192	MCOLN1	OMIM:252650
HP:0007759	Opacification of the corneal stroma	157570	ESCO2	OMIM:268300
HP:0007759	Opacification of the corneal stroma	3931	LCAT	OMIM:136120
HP:0007759	Opacification of the corneal stroma	3845	KRAS	OMIM:600268
HP:0007759	Opacification of the corneal stroma	3977	LIFR	OMIM:601559
HP:0007759	Opacification of the corneal stroma	54101	RIPK4	OMIM:263650
HP:0007759	Opacification of the corneal stroma	338917	VSX2	OMIM:610093
HP:0007759	Opacification of the corneal stroma	4914	NTRK1	OMIM:256800
HP:0007759	Opacification of the corneal stroma	2629	GBA1	OMIM:231005
HP:0007759	Opacification of the corneal stroma	6399	TRAPPC2	OMIM:313400
HP:0007759	Opacification of the corneal stroma	3425	IDUA	OMIM:607014
HP:0007759	Opacification of the corneal stroma	7490	WT1	OMIM:106210
HP:0007759	Opacification of the corneal stroma	2068	ERCC2	ORPHA:910
HP:0007759	Opacification of the corneal stroma	7507	XPA	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2071	ERCC3	ORPHA:910
HP:0007759	Opacification of the corneal stroma	7508	XPC	ORPHA:910
HP:0007759	Opacification of the corneal stroma	1643	DDB2	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2072	ERCC4	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2073	ERCC5	ORPHA:910
HP:0007759	Opacification of the corneal stroma	285440	CYP4V2	ORPHA:41751
HP:0007759	Opacification of the corneal stroma	29914	UBIAD1	OMIM:121800
HP:0007759	Opacification of the corneal stroma	3859	KRT12	OMIM:122100
HP:0007759	Opacification of the corneal stroma	5696	PSMB8	OMIM:256040
HP:0007759	Opacification of the corneal stroma	4313	MMP2	OMIM:259600
HP:0007665	Curly eyelashes	6768	ST14	OMIM:602400
HP:0007665	Curly eyelashes	1857	DVL3	ORPHA:3107
HP:0007665	Curly eyelashes	7474	WNT5A	ORPHA:3107
HP:0007665	Curly eyelashes	1855	DVL1	ORPHA:3107
HP:0007665	Curly eyelashes	2535	FZD2	ORPHA:3107
HP:0007665	Curly eyelashes	23476	BRD4	ORPHA:199
HP:0007665	Curly eyelashes	9126	SMC3	ORPHA:199
HP:0007665	Curly eyelashes	8243	SMC1A	ORPHA:199
HP:0007665	Curly eyelashes	25836	NIPBL	ORPHA:199
HP:0007665	Curly eyelashes	25836	NIPBL	OMIM:122470
HP:0007665	Curly eyelashes	55869	HDAC8	ORPHA:199
HP:0007665	Curly eyelashes	5885	RAD21	ORPHA:199
HP:0007665	Curly eyelashes	6595	SMARCA2	ORPHA:3051
HP:0007665	Curly eyelashes	10735	STAG2	OMIM:301022
HP:0007665	Curly eyelashes	3764	KCNJ8	ORPHA:1517
HP:0007665	Curly eyelashes	10060	ABCC9	ORPHA:1517
HP:0007665	Curly eyelashes	10060	ABCC9	OMIM:239850
HP:0007787	Posterior subcapsular cataract	64132	XYLT2	OMIM:605822
HP:0007787	Posterior subcapsular cataract	346007	EYS	OMIM:602772
HP:0007787	Posterior subcapsular cataract	7287	TULP1	OMIM:600132
HP:0007787	Posterior subcapsular cataract	7287	TULP1	OMIM:613843
HP:0007787	Posterior subcapsular cataract	7840	ALMS1	ORPHA:64
HP:0007787	Posterior subcapsular cataract	2703	GJA8	OMIM:116200
HP:0007787	Posterior subcapsular cataract	84265	POLR3GL	OMIM:619234
HP:0007787	Posterior subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0007787	Posterior subcapsular cataract	5949	RBP3	OMIM:615233
HP:0007787	Posterior subcapsular cataract	83932	SPRTN	OMIM:616200
HP:0007787	Posterior subcapsular cataract	79797	ZNF408	OMIM:616469
HP:0007787	Posterior subcapsular cataract	23568	ARL2BP	OMIM:615434
HP:0007787	Posterior subcapsular cataract	10002	NR2E3	OMIM:611131
HP:0007787	Posterior subcapsular cataract	170692	ADAMTS18	OMIM:615458
HP:0007787	Posterior subcapsular cataract	5145	PDE6A	OMIM:613810
HP:0007787	Posterior subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0007787	Posterior subcapsular cataract	4942	OAT	OMIM:258870
HP:0007787	Posterior subcapsular cataract	4796	TONSL	OMIM:271510
HP:0007787	Posterior subcapsular cataract	3614	IMPDH1	OMIM:180105
HP:0007787	Posterior subcapsular cataract	49855	SCAPER	OMIM:618195
HP:0007787	Posterior subcapsular cataract	403	ARL3	OMIM:618173
HP:0007787	Posterior subcapsular cataract	7555	CNBP	OMIM:602668
HP:0007787	Posterior subcapsular cataract	9227	LRAT	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	55812	SPATA7	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	6121	RPE65	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	167691	LCA5	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	8481	OFD1	OMIM:300424
HP:0007787	Posterior subcapsular cataract	50939	IMPG2	OMIM:613581
HP:0007787	Posterior subcapsular cataract	755	CFAP410	OMIM:617547
HP:0007787	Posterior subcapsular cataract	3420	IDH3B	OMIM:612572
HP:0007787	Posterior subcapsular cataract	24148	PRPF6	OMIM:613983
HP:0007787	Posterior subcapsular cataract	92840	REEP6	OMIM:617304
HP:0007787	Posterior subcapsular cataract	146862	UNC45B	OMIM:616279
HP:0007787	Posterior subcapsular cataract	4771	NF2	OMIM:101000
HP:0007667	Peripheral cystoid retinal degeneration	6247	RS1	OMIM:312700
HP:0007668	Impaired pursuit initiation and maintenance	55157	DARS2	ORPHA:137898
HP:0007668	Impaired pursuit initiation and maintenance	6908	TBP	OMIM:607136
HP:0007678	Lacrimal duct stenosis	9968	MED12	OMIM:301068
HP:0007678	Lacrimal duct stenosis	7528	YY1	ORPHA:506358
HP:0007678	Lacrimal duct stenosis	9791	PTDSS1	OMIM:151050
HP:0007678	Lacrimal duct stenosis	2138	EYA1	OMIM:113650
HP:0007678	Lacrimal duct stenosis	6495	SIX1	OMIM:113650
HP:0007678	Lacrimal duct stenosis	6495	SIX1	OMIM:608389
HP:0007678	Lacrimal duct stenosis	5075	PAX1	OMIM:615560
HP:0007678	Lacrimal duct stenosis	6949	TCOF1	OMIM:154500
HP:0007678	Lacrimal duct stenosis	7994	KAT6A	OMIM:616268
HP:0007678	Lacrimal duct stenosis	7994	KAT6A	ORPHA:457193
HP:0007678	Lacrimal duct stenosis	200424	TET3	OMIM:618798
HP:0007678	Lacrimal duct stenosis	5500	PPP1CB	OMIM:617506
HP:0007678	Lacrimal duct stenosis	200734	SPRED2	OMIM:619745
HP:0007678	Lacrimal duct stenosis	90417	KNSTRN	OMIM:613328
HP:0007678	Lacrimal duct stenosis	90417	KNSTRN	ORPHA:221139
HP:0007678	Lacrimal duct stenosis	5293	PIK3CD	OMIM:613328
HP:0007678	Lacrimal duct stenosis	5293	PIK3CD	ORPHA:221139
HP:0007678	Lacrimal duct stenosis	8626	TP63	OMIM:604292
HP:0007678	Lacrimal duct stenosis	977	CD151	OMIM:609057
HP:0010696	Polar cataract	5309	PITX3	OMIM:107250
HP:0010696	Polar cataract	1410	CRYAB	OMIM:613763
HP:0010696	Polar cataract	26137	ZBTB20	OMIM:259050
HP:0010696	Polar cataract	9445	ITM2B	OMIM:117300
HP:0010696	Polar cataract	324	APC	ORPHA:261584
HP:0010696	Polar cataract	1969	EPHA2	OMIM:116600
HP:0010696	Polar cataract	583	BBS2	OMIM:616562
HP:0010696	Polar cataract	7431	VIM	OMIM:116300
HP:0010696	Polar cataract	9653	HS2ST1	OMIM:619194
HP:0010696	Polar cataract	3299	HSF4	OMIM:116800
HP:0010696	Polar cataract	10682	EBP	OMIM:300960
HP:0010696	Polar cataract	406960	MIR184	OMIM:614303
HP:0010696	Polar cataract	1285	COL4A3	OMIM:104200
HP:0010696	Polar cataract	57551	TAOK1	OMIM:619575
HP:0010696	Polar cataract	1419	CRYGB	OMIM:615188
HP:0010696	Polar cataract	5830	PEX5	OMIM:202370
HP:0010695	Sutural cataract	1411	CRYBA1	OMIM:600881
HP:0010695	Sutural cataract	4810	NHS	OMIM:302350
HP:0010695	Sutural cataract	10484	SEC23A	OMIM:607812
HP:0010695	Sutural cataract	10484	SEC23A	ORPHA:50814
HP:0010695	Sutural cataract	2702	GJA5	OMIM:612474
HP:0010695	Sutural cataract	2703	GJA8	OMIM:612474
HP:0010695	Sutural cataract	1427	CRYGS	OMIM:116100
HP:0010695	Sutural cataract	1415	CRYBB2	OMIM:601547
HP:0010695	Sutural cataract	35	ACADS	OMIM:201470
HP:0200065	Chorioretinal degeneration	346007	EYS	OMIM:602772
HP:0200065	Chorioretinal degeneration	4693	NDP	ORPHA:891
HP:0200065	Chorioretinal degeneration	1499	CTNNB1	ORPHA:891
HP:0200065	Chorioretinal degeneration	23554	TSPAN12	ORPHA:891
HP:0200065	Chorioretinal degeneration	4041	LRP5	ORPHA:891
HP:0200065	Chorioretinal degeneration	79797	ZNF408	ORPHA:891
HP:0200065	Chorioretinal degeneration	79797	ZNF408	OMIM:616468
HP:0200065	Chorioretinal degeneration	8322	FZD4	ORPHA:891
HP:0200065	Chorioretinal degeneration	25794	FSCN2	OMIM:607921
HP:0200065	Chorioretinal degeneration	1181	CLCN2	OMIM:615651
HP:0200065	Chorioretinal degeneration	54820	NDE1	ORPHA:2177
HP:0200065	Chorioretinal degeneration	6295	SAG	OMIM:613758
HP:0200065	Chorioretinal degeneration	3166	HMX1	OMIM:612109
HP:0200065	Chorioretinal degeneration	1406	CRX	OMIM:120970
HP:0200065	Chorioretinal degeneration	6094	ROM1	OMIM:608133
HP:0200065	Chorioretinal degeneration	5076	PAX2	OMIM:120330
HP:0200065	Chorioretinal degeneration	80781	COL18A1	OMIM:267750
HP:0200065	Chorioretinal degeneration	3030	HADHA	ORPHA:5
HP:0200065	Chorioretinal degeneration	10908	PNPLA6	OMIM:245800
HP:0200065	Chorioretinal degeneration	9227	LRAT	ORPHA:364055
HP:0200065	Chorioretinal degeneration	55812	SPATA7	ORPHA:364055
HP:0200065	Chorioretinal degeneration	6121	RPE65	ORPHA:364055
HP:0200065	Chorioretinal degeneration	6121	RPE65	OMIM:618697
HP:0200065	Chorioretinal degeneration	167691	LCA5	ORPHA:364055
HP:0200065	Chorioretinal degeneration	3845	KRAS	OMIM:600268
HP:0200065	Chorioretinal degeneration	100147744	RNU7-1	OMIM:619487
HP:0200065	Chorioretinal degeneration	182	JAG1	OMIM:118450
HP:0200065	Chorioretinal degeneration	1462	VCAN	OMIM:143200
HP:0200065	Chorioretinal degeneration	10166	SLC25A15	ORPHA:415
HP:0200065	Chorioretinal degeneration	10166	SLC25A15	OMIM:238970
HP:0200065	Chorioretinal degeneration	23418	CRB1	OMIM:172870
HP:0200065	Chorioretinal degeneration	4901	NRL	OMIM:613750
HP:0200065	Chorioretinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0200065	Chorioretinal degeneration	3075	CFH	ORPHA:75376
HP:0200065	Chorioretinal degeneration	3426	CFI	ORPHA:75376
HP:0200065	Chorioretinal degeneration	7003	TEAD1	OMIM:108985
HP:0200065	Chorioretinal degeneration	94	ACVRL1	OMIM:600376
HP:0200065	Chorioretinal degeneration	285440	CYP4V2	ORPHA:41751
HP:0200065	Chorioretinal degeneration	7078	TIMP3	ORPHA:59181
HP:0200065	Chorioretinal degeneration	3000	GUCY2D	OMIM:215500
HP:0200065	Chorioretinal degeneration	3000	GUCY2D	ORPHA:75377
HP:0200065	Chorioretinal degeneration	5961	PRPH2	ORPHA:75377
HP:0200065	Chorioretinal degeneration	2978	GUCA1A	ORPHA:75377
HP:0200065	Chorioretinal degeneration	170692	ADAMTS18	OMIM:615458
HP:0200065	Chorioretinal degeneration	1121	CHM	OMIM:303100
HP:0200065	Chorioretinal degeneration	6102	RP2	OMIM:312600
HP:0200065	Chorioretinal degeneration	1804	DPP6	OMIM:616311
HP:0200065	Chorioretinal degeneration	6935	ZEB1	ORPHA:98973
HP:0200065	Chorioretinal degeneration	30813	VSX1	ORPHA:98973
HP:0200065	Chorioretinal degeneration	58495	OVOL2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	79977	GRHL2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	1296	COL8A2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	114902	C1QTNF5	OMIM:605670
HP:0200065	Chorioretinal degeneration	5456	POU3F4	ORPHA:1435
HP:0200065	Chorioretinal degeneration	4942	OAT	ORPHA:414
HP:0200064	Asymmetry of iris pigmentation	3265	HRAS	ORPHA:79414
HP:0200064	Asymmetry of iris pigmentation	4286	MITF	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	4286	MITF	OMIM:193510
HP:0200064	Asymmetry of iris pigmentation	4286	MITF	OMIM:103500
HP:0200064	Asymmetry of iris pigmentation	7299	TYR	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	6591	SNAI2	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	6591	SNAI2	ORPHA:2884
HP:0200064	Asymmetry of iris pigmentation	1910	EDNRB	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	1910	EDNRB	OMIM:277580
HP:0200064	Asymmetry of iris pigmentation	4254	KITLG	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	4254	KITLG	OMIM:619947
HP:0200064	Asymmetry of iris pigmentation	6663	SOX10	ORPHA:895
HP:0200064	Asymmetry of iris pigmentation	6663	SOX10	ORPHA:163746
HP:0200064	Asymmetry of iris pigmentation	6663	SOX10	OMIM:613266
HP:0200064	Asymmetry of iris pigmentation	6663	SOX10	OMIM:611584
HP:0200064	Asymmetry of iris pigmentation	6663	SOX10	OMIM:609136
HP:0200064	Asymmetry of iris pigmentation	5077	PAX3	ORPHA:894
HP:0200064	Asymmetry of iris pigmentation	5077	PAX3	OMIM:193500
HP:0200064	Asymmetry of iris pigmentation	5077	PAX3	OMIM:148820
HP:0200064	Asymmetry of iris pigmentation	80153	EDC3	OMIM:616460
HP:0200064	Asymmetry of iris pigmentation	3815	KIT	OMIM:172800
HP:0200064	Asymmetry of iris pigmentation	3815	KIT	ORPHA:2884
HP:0200064	Asymmetry of iris pigmentation	8518	ELP1	ORPHA:1764
HP:0200064	Asymmetry of iris pigmentation	71	ACTG1	ORPHA:2995
HP:0200064	Asymmetry of iris pigmentation	60	ACTB	ORPHA:2995
HP:0200064	Asymmetry of iris pigmentation	2776	GNAQ	ORPHA:3205
HP:0200064	Asymmetry of iris pigmentation	1908	EDN3	OMIM:613265
HP:0200064	Asymmetry of iris pigmentation	5728	PTEN	ORPHA:2969
HP:0200064	Asymmetry of iris pigmentation	4157	MC1R	ORPHA:79432
HP:0200064	Asymmetry of iris pigmentation	4948	OCA2	ORPHA:79432
HP:0200064	Asymmetry of iris pigmentation	57167	SALL4	ORPHA:233
HP:0200064	Asymmetry of iris pigmentation	9935	MAFB	ORPHA:233
HP:0200064	Asymmetry of iris pigmentation	1123	CHN1	ORPHA:233
HP:0200064	Asymmetry of iris pigmentation	10908	PNPLA6	OMIM:275400
HP:0200064	Asymmetry of iris pigmentation	207	AKT1	ORPHA:744
HP:0200064	Asymmetry of iris pigmentation	4010	LMX1B	ORPHA:2614
HP:0200064	Asymmetry of iris pigmentation	4010	LMX1B	OMIM:161200
HP:0200063	Colorectal polyposis	10483	SEC23B	ORPHA:201
HP:0200063	Colorectal polyposis	5728	PTEN	ORPHA:201
HP:0200063	Colorectal polyposis	6390	SDHB	ORPHA:201
HP:0200063	Colorectal polyposis	6392	SDHD	ORPHA:201
HP:0200063	Colorectal polyposis	6391	SDHC	ORPHA:201
HP:0200063	Colorectal polyposis	207	AKT1	ORPHA:201
HP:0200063	Colorectal polyposis	205717	USF3	ORPHA:201
HP:0200063	Colorectal polyposis	5290	PIK3CA	ORPHA:201
HP:0200063	Colorectal polyposis	100144748	KLLN	ORPHA:201
HP:0200063	Colorectal polyposis	8313	AXIN2	ORPHA:401911
HP:0200063	Colorectal polyposis	5426	POLE	OMIM:615083
HP:0200063	Colorectal polyposis	5426	POLE	ORPHA:447877
HP:0200063	Colorectal polyposis	54894	RNF43	ORPHA:157798
HP:0200063	Colorectal polyposis	5424	POLD1	OMIM:612591
HP:0200063	Colorectal polyposis	5424	POLD1	ORPHA:447877
HP:0200063	Colorectal polyposis	26585	GREM1	ORPHA:157794
HP:0200063	Colorectal polyposis	657	BMPR1A	ORPHA:157794
HP:0200063	Colorectal polyposis	4595	MUTYH	ORPHA:247798
HP:0200063	Colorectal polyposis	324	APC	OMIM:135290
HP:0200063	Colorectal polyposis	9817	KEAP1	ORPHA:276399
HP:0200063	Colorectal polyposis	23405	DICER1	ORPHA:276399
HP:0200063	Colorectal polyposis	4437	MSH3	ORPHA:480536
HP:0200063	Colorectal polyposis	7157	TP53	ORPHA:524
HP:0200063	Colorectal polyposis	1029	CDKN2A	ORPHA:524
HP:0200063	Colorectal polyposis	4193	MDM2	ORPHA:524
HP:0200063	Colorectal polyposis	11200	CHEK2	ORPHA:524
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	56683	CFAP298	OMIM:615500
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	54919	DNAAF5	OMIM:614874
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	51364	ZMYND10	OMIM:615444
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	115948	ODAD3	OMIM:616037
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	85478	CCDC65	OMIM:615504
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	54768	HYDIN	OMIM:608647
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	6674	SPAG1	OMIM:615505
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	23639	DNAAF11	OMIM:614935
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	93233	ODAD1	OMIM:615067
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	55130	ODAD2	OMIM:615451
HP:0200072	Episodic quadriplegia	478	ATP1A3	OMIM:614820
HP:0200072	Episodic quadriplegia	477	ATP1A2	OMIM:104290
HP:0200071	Peripheral vitreoretinal degeneration	55214	P3H2	OMIM:614292
HP:0200070	Peripheral retinal atrophy	10461	MERTK	OMIM:613862
HP:0200070	Peripheral retinal atrophy	5950	RBP4	OMIM:615147
HP:0200070	Peripheral retinal atrophy	6533	SLC6A6	OMIM:145350
HP:0033522	Cerebral cavernous malformation	490	ATP2B1	OMIM:619910
HP:0033522	Cerebral cavernous malformation	5290	PIK3CA	OMIM:619538
HP:0033522	Cerebral cavernous malformation	889	KRIT1	OMIM:116860
HP:0033522	Cerebral cavernous malformation	11235	PDCD10	OMIM:603285
HP:0033522	Cerebral cavernous malformation	83605	CCM2	OMIM:603284
HP:0033524	Abnormal sperm axoneme morphology	375307	CATIP	OMIM:619379
HP:0033524	Abnormal sperm axoneme morphology	122481	AK7	OMIM:617965
HP:0033524	Abnormal sperm axoneme morphology	57728	WDR19	OMIM:619867
HP:0033524	Abnormal sperm axoneme morphology	79925	SPEF2	OMIM:618751
HP:0033524	Abnormal sperm axoneme morphology	401024	FSIP2	OMIM:618153
HP:0033524	Abnormal sperm axoneme morphology	89876	CFAP91	OMIM:619177
HP:0033524	Abnormal sperm axoneme morphology	84074	QRICH2	OMIM:618341
HP:0033525	Absent sperm axoneme central pair complex	122481	AK7	OMIM:617965
HP:0033525	Absent sperm axoneme central pair complex	57728	WDR19	OMIM:619867
HP:0033525	Absent sperm axoneme central pair complex	79925	SPEF2	OMIM:618751
HP:0033525	Absent sperm axoneme central pair complex	401024	FSIP2	OMIM:618153
HP:0033525	Absent sperm axoneme central pair complex	89876	CFAP91	OMIM:619177
HP:0033525	Absent sperm axoneme central pair complex	84074	QRICH2	OMIM:618341
HP:0007670	Abnormal vestibulo-ocular reflex	773	CACNA1A	OMIM:183086
HP:0007670	Abnormal vestibulo-ocular reflex	2259	FGF14	OMIM:193003
HP:0007670	Abnormal vestibulo-ocular reflex	5981	RFC1	OMIM:614575
HP:0007670	Abnormal vestibulo-ocular reflex	5981	RFC1	ORPHA:504476
HP:0007670	Abnormal vestibulo-ocular reflex	83715	ESPN	OMIM:609006
HP:0007670	Abnormal vestibulo-ocular reflex	53405	CLIC5	OMIM:616042
HP:0007670	Abnormal vestibulo-ocular reflex	2395	FXN	ORPHA:95
HP:0007675	Progressive night blindness	51109	RDH11	ORPHA:436245
HP:0007675	Progressive night blindness	3000	GUCY2D	OMIM:601777
HP:0007675	Progressive night blindness	5961	PRPH2	ORPHA:52427
HP:0007675	Progressive night blindness	5961	PRPH2	ORPHA:791
HP:0007675	Progressive night blindness	6017	RLBP1	ORPHA:52427
HP:0007675	Progressive night blindness	6017	RLBP1	ORPHA:791
HP:0007675	Progressive night blindness	6010	RHO	ORPHA:52427
HP:0007675	Progressive night blindness	6010	RHO	ORPHA:791
HP:0007675	Progressive night blindness	5959	RDH5	ORPHA:52427
HP:0007675	Progressive night blindness	56623	INPP5E	ORPHA:75858
HP:0007675	Progressive night blindness	92840	REEP6	ORPHA:791
HP:0007675	Progressive night blindness	6094	ROM1	ORPHA:791
HP:0007675	Progressive night blindness	7401	CLRN1	ORPHA:791
HP:0007675	Progressive night blindness	24	ABCA4	ORPHA:791
HP:0007675	Progressive night blindness	130557	ZNF513	ORPHA:791
HP:0007675	Progressive night blindness	582	BBS1	ORPHA:791
HP:0007675	Progressive night blindness	92211	CDHR1	ORPHA:791
HP:0007675	Progressive night blindness	23568	ARL2BP	ORPHA:791
HP:0007675	Progressive night blindness	6121	RPE65	ORPHA:791
HP:0007675	Progressive night blindness	54806	AHI1	ORPHA:791
HP:0007675	Progressive night blindness	6101	RP1	ORPHA:791
HP:0007675	Progressive night blindness	3419	IDH3A	ORPHA:791
HP:0007675	Progressive night blindness	4751	NEK2	ORPHA:791
HP:0007675	Progressive night blindness	346007	EYS	ORPHA:791
HP:0007675	Progressive night blindness	8100	IFT88	ORPHA:791
HP:0007675	Progressive night blindness	23020	SNRNP200	ORPHA:791
HP:0007675	Progressive night blindness	762	CA4	ORPHA:791
HP:0007675	Progressive night blindness	138050	HGSNAT	ORPHA:791
HP:0007675	Progressive night blindness	196	AHR	ORPHA:791
HP:0007675	Progressive night blindness	196	AHR	OMIM:618345
HP:0007675	Progressive night blindness	3614	IMPDH1	ORPHA:791
HP:0007675	Progressive night blindness	123016	TTC8	ORPHA:791
HP:0007675	Progressive night blindness	6103	RPGR	ORPHA:791
HP:0007675	Progressive night blindness	1406	CRX	ORPHA:791
HP:0007675	Progressive night blindness	5148	PDE6G	ORPHA:791
HP:0007675	Progressive night blindness	26160	IFT172	ORPHA:791
HP:0007675	Progressive night blindness	26121	PRPF31	ORPHA:791
HP:0007675	Progressive night blindness	583	BBS2	ORPHA:791
HP:0007675	Progressive night blindness	4117	MAK	ORPHA:791
HP:0007675	Progressive night blindness	25794	FSCN2	ORPHA:791
HP:0007675	Progressive night blindness	375298	CERKL	ORPHA:791
HP:0007675	Progressive night blindness	3420	IDH3B	ORPHA:791
HP:0007675	Progressive night blindness	57670	KIAA1549	ORPHA:791
HP:0007675	Progressive night blindness	7275	TUB	ORPHA:791
HP:0007675	Progressive night blindness	24148	PRPF6	ORPHA:791
HP:0007675	Progressive night blindness	23418	CRB1	ORPHA:791
HP:0007675	Progressive night blindness	10461	MERTK	ORPHA:791
HP:0007675	Progressive night blindness	57709	SLC7A14	ORPHA:791
HP:0007675	Progressive night blindness	768206	PRCD	ORPHA:791
HP:0007675	Progressive night blindness	7399	USH2A	ORPHA:791
HP:0007675	Progressive night blindness	23370	ARHGEF18	ORPHA:791
HP:0007675	Progressive night blindness	5949	RBP3	ORPHA:791
HP:0007675	Progressive night blindness	6100	RP9	ORPHA:791
HP:0007675	Progressive night blindness	10002	NR2E3	ORPHA:791
HP:0007675	Progressive night blindness	9227	LRAT	ORPHA:791
HP:0007675	Progressive night blindness	84140	FAM161A	ORPHA:791
HP:0007675	Progressive night blindness	55812	SPATA7	ORPHA:791
HP:0007675	Progressive night blindness	55624	POMGNT1	ORPHA:791
HP:0007675	Progressive night blindness	79797	ZNF408	ORPHA:791
HP:0007675	Progressive night blindness	403	ARL3	ORPHA:791
HP:0007675	Progressive night blindness	5145	PDE6A	ORPHA:791
HP:0007675	Progressive night blindness	10210	TOPORS	ORPHA:791
HP:0007675	Progressive night blindness	8842	PROM1	ORPHA:791
HP:0007675	Progressive night blindness	9128	PRPF4	ORPHA:791
HP:0007675	Progressive night blindness	145226	RDH12	ORPHA:791
HP:0007675	Progressive night blindness	50939	IMPG2	ORPHA:791
HP:0007675	Progressive night blindness	8481	OFD1	ORPHA:791
HP:0007675	Progressive night blindness	49855	SCAPER	ORPHA:791
HP:0007675	Progressive night blindness	9742	IFT140	ORPHA:791
HP:0007675	Progressive night blindness	2979	GUCA1B	ORPHA:791
HP:0007675	Progressive night blindness	1259	CNGA1	ORPHA:791
HP:0007675	Progressive night blindness	1258	CNGB1	ORPHA:791
HP:0007675	Progressive night blindness	60509	AGBL5	ORPHA:791
HP:0007675	Progressive night blindness	388939	PCARE	ORPHA:791
HP:0007675	Progressive night blindness	7439	BEST1	ORPHA:791
HP:0007675	Progressive night blindness	9785	DHX38	ORPHA:791
HP:0007675	Progressive night blindness	7287	TULP1	ORPHA:791
HP:0007675	Progressive night blindness	5995	RGR	ORPHA:791
HP:0007675	Progressive night blindness	9129	PRPF3	ORPHA:791
HP:0007675	Progressive night blindness	55975	KLHL7	ORPHA:791
HP:0007675	Progressive night blindness	3617	IMPG1	ORPHA:791
HP:0007675	Progressive night blindness	94137	RP1L1	ORPHA:791
HP:0007675	Progressive night blindness	5158	PDE6B	ORPHA:791
HP:0007675	Progressive night blindness	6102	RP2	ORPHA:791
HP:0007675	Progressive night blindness	55857	KIZ	ORPHA:791
HP:0007675	Progressive night blindness	64218	SEMA4A	ORPHA:791
HP:0007675	Progressive night blindness	4901	NRL	ORPHA:791
HP:0007675	Progressive night blindness	157657	CFAP418	ORPHA:791
HP:0007675	Progressive night blindness	10594	PRPF8	ORPHA:791
HP:0007675	Progressive night blindness	84100	ARL6	ORPHA:791
HP:0007675	Progressive night blindness	6295	SAG	ORPHA:791
HP:0007675	Progressive night blindness	79947	DHDDS	ORPHA:791
HP:0007675	Progressive night blindness	5456	POU3F4	ORPHA:1435
HP:0007675	Progressive night blindness	4942	OAT	ORPHA:414
HP:0007675	Progressive night blindness	285440	CYP4V2	OMIM:210370
HP:0007676	Hypoplasia of the iris	92949	ADAMTSL1	ORPHA:521445
HP:0007676	Hypoplasia of the iris	5295	PIK3R1	OMIM:269880
HP:0007676	Hypoplasia of the iris	53834	FGFRL1	OMIM:194190
HP:0007676	Hypoplasia of the iris	1487	CTBP1	OMIM:194190
HP:0007676	Hypoplasia of the iris	3954	LETM1	OMIM:194190
HP:0007676	Hypoplasia of the iris	7468	NSD2	OMIM:194190
HP:0007676	Hypoplasia of the iris	10815	CPLX1	OMIM:194190
HP:0007676	Hypoplasia of the iris	3480	IGF1R	OMIM:270450
HP:0007676	Hypoplasia of the iris	3913	LAMB2	OMIM:609049
HP:0007676	Hypoplasia of the iris	9653	HS2ST1	OMIM:619194
HP:0007676	Hypoplasia of the iris	2074	ERCC6	OMIM:133540
HP:0007676	Hypoplasia of the iris	2200	FBN1	OMIM:154700
HP:0007676	Hypoplasia of the iris	64840	PORCN	ORPHA:2092
HP:0007676	Hypoplasia of the iris	55733	HHAT	ORPHA:1422
HP:0007676	Hypoplasia of the iris	55733	HHAT	OMIM:600092
HP:0007676	Hypoplasia of the iris	6786	STIM1	OMIM:612783
HP:0007676	Hypoplasia of the iris	27151	CPAMD8	OMIM:617319
HP:0007676	Hypoplasia of the iris	406960	MIR184	OMIM:614303
HP:0007676	Hypoplasia of the iris	1282	COL4A1	OMIM:175780
HP:0007676	Hypoplasia of the iris	84942	WDR73	OMIM:251300
HP:0007676	Hypoplasia of the iris	4693	NDP	OMIM:310600
HP:0007676	Hypoplasia of the iris	4693	NDP	ORPHA:649
HP:0007676	Hypoplasia of the iris	4036	LRP2	OMIM:222448
HP:0007676	Hypoplasia of the iris	30813	VSX1	OMIM:614195
HP:0007676	Hypoplasia of the iris	2260	FGFR1	OMIM:613001
HP:0007676	Hypoplasia of the iris	6663	SOX10	OMIM:611584
HP:0007676	Hypoplasia of the iris	3708	ITPR1	OMIM:206700
HP:0007676	Hypoplasia of the iris	7490	WT1	OMIM:106210
HP:0007676	Hypoplasia of the iris	57167	SALL4	ORPHA:233
HP:0007676	Hypoplasia of the iris	9935	MAFB	ORPHA:233
HP:0007676	Hypoplasia of the iris	1123	CHN1	ORPHA:233
HP:0007676	Hypoplasia of the iris	5080	PAX6	ORPHA:2334
HP:0007676	Hypoplasia of the iris	2296	FOXC1	OMIM:601631
HP:0007676	Hypoplasia of the iris	4286	MITF	OMIM:193510
HP:0007676	Hypoplasia of the iris	5077	PAX3	OMIM:193500
HP:0007676	Hypoplasia of the iris	5308	PITX2	OMIM:137600
HP:0007677	Vitelliform-like macular lesions	5961	PRPH2	OMIM:608161
HP:0007677	Vitelliform-like macular lesions	5961	PRPH2	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	7439	BEST1	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	50939	IMPG2	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	50939	IMPG2	OMIM:616152
HP:0007677	Vitelliform-like macular lesions	3617	IMPG1	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	3617	IMPG1	OMIM:616151
HP:0033534	Increased circulating brain natriuretic peptide concentration	9529	BAG5	OMIM:619747
HP:0033534	Increased circulating brain natriuretic peptide concentration	7139	TNNT2	OMIM:601494
HP:0033535	Reduced platelet dense granules	63915	BLOC1S5	OMIM:619172
HP:0033535	Reduced platelet dense granules	64376	IKZF5	OMIM:619130
HP:0033536	Reduced platelet alpha granules	64376	IKZF5	OMIM:619130
HP:0033536	Reduced platelet alpha granules	2623	GATA1	OMIM:314050
HP:0007680	Depigmented fundus	4935	GPR143	OMIM:300500
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	10381	TUBB3	OMIM:600638
HP:0007685	Peripheral retinal avascularization	8322	FZD4	OMIM:133780
HP:0007685	Peripheral retinal avascularization	8322	FZD4	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4041	LRP5	OMIM:133780
HP:0007685	Peripheral retinal avascularization	4041	LRP5	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4041	LRP5	OMIM:601813
HP:0007685	Peripheral retinal avascularization	4693	NDP	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4693	NDP	OMIM:305390
HP:0007685	Peripheral retinal avascularization	1499	CTNNB1	ORPHA:891
HP:0007685	Peripheral retinal avascularization	23554	TSPAN12	ORPHA:891
HP:0007685	Peripheral retinal avascularization	79797	ZNF408	ORPHA:891
HP:0007685	Peripheral retinal avascularization	388015	RTL1	ORPHA:96334
HP:0007685	Peripheral retinal avascularization	8788	DLK1	ORPHA:96334
HP:0007685	Peripheral retinal avascularization	55384	MEG3	ORPHA:96334
HP:0007686	Abnormal pupillary function	2074	ERCC6	OMIM:214150
HP:0007686	Abnormal pupillary function	5264	PHYH	ORPHA:773
HP:0007686	Abnormal pupillary function	5264	PHYH	OMIM:266500
HP:0007686	Abnormal pupillary function	5191	PEX7	ORPHA:773
HP:0007686	Abnormal pupillary function	5191	PEX7	OMIM:266500
HP:0007686	Abnormal pupillary function	100996717	NOTCH2NLC	OMIM:619473
HP:0007686	Abnormal pupillary function	100996717	NOTCH2NLC	OMIM:603472
HP:0007686	Abnormal pupillary function	55733	HHAT	ORPHA:1422
HP:0007686	Abnormal pupillary function	22931	RAB18	OMIM:614222
HP:0007686	Abnormal pupillary function	91851	CHRDL1	OMIM:309300
HP:0007686	Abnormal pupillary function	4990	SIX6	OMIM:212550
HP:0007686	Abnormal pupillary function	84876	ORAI1	ORPHA:3204
HP:0007686	Abnormal pupillary function	84876	ORAI1	OMIM:615883
HP:0007686	Abnormal pupillary function	6786	STIM1	ORPHA:3204
HP:0007686	Abnormal pupillary function	6786	STIM1	OMIM:185070
HP:0007686	Abnormal pupillary function	23268	DNMBP	OMIM:618415
HP:0007686	Abnormal pupillary function	1644	DDC	OMIM:608643
HP:0007686	Abnormal pupillary function	23095	KIF1B	OMIM:256700
HP:0007686	Abnormal pupillary function	2783	GNB2	OMIM:619503
HP:0007686	Abnormal pupillary function	5621	PRNP	ORPHA:282166
HP:0007686	Abnormal pupillary function	79628	SH3TC2	OMIM:601596
HP:0007686	Abnormal pupillary function	79628	SH3TC2	ORPHA:99949
HP:0007686	Abnormal pupillary function	22926	ATF6	ORPHA:49382
HP:0007686	Abnormal pupillary function	5146	PDE6C	ORPHA:49382
HP:0007686	Abnormal pupillary function	6103	RPGR	ORPHA:49382
HP:0007686	Abnormal pupillary function	5149	PDE6H	ORPHA:49382
HP:0007686	Abnormal pupillary function	2780	GNAT2	ORPHA:49382
HP:0007686	Abnormal pupillary function	1261	CNGA3	ORPHA:49382
HP:0007686	Abnormal pupillary function	54714	CNGB3	ORPHA:49382
HP:0007686	Abnormal pupillary function	9227	LRAT	ORPHA:364055
HP:0007686	Abnormal pupillary function	55812	SPATA7	ORPHA:364055
HP:0007686	Abnormal pupillary function	6121	RPE65	ORPHA:364055
HP:0007686	Abnormal pupillary function	167691	LCA5	ORPHA:364055
HP:0007686	Abnormal pupillary function	84570	COL25A1	ORPHA:91411
HP:0007686	Abnormal pupillary function	79776	ZFHX4	ORPHA:91411
HP:0007686	Abnormal pupillary function	4016	LOXL1	OMIM:177650
HP:0007686	Abnormal pupillary function	4629	MYH11	OMIM:619351
HP:0007686	Abnormal pupillary function	10398	MYL9	OMIM:619365
HP:0007686	Abnormal pupillary function	79639	TMEM53	OMIM:619727
HP:0007686	Abnormal pupillary function	773	CACNA1A	ORPHA:2131
HP:0007686	Abnormal pupillary function	6507	SLC1A3	ORPHA:2131
HP:0007686	Abnormal pupillary function	477	ATP1A2	ORPHA:2131
HP:0007686	Abnormal pupillary function	478	ATP1A3	ORPHA:2131
HP:0007686	Abnormal pupillary function	59	ACTA2	OMIM:613834
HP:0007686	Abnormal pupillary function	8314	BAP1	ORPHA:39044
HP:0007686	Abnormal pupillary function	57105	CYSLTR2	ORPHA:39044
HP:0007686	Abnormal pupillary function	2776	GNAQ	ORPHA:39044
HP:0007686	Abnormal pupillary function	2767	GNA11	ORPHA:39044
HP:0007686	Abnormal pupillary function	23451	SF3B1	ORPHA:39044
HP:0007686	Abnormal pupillary function	5192	PEX10	ORPHA:247815
HP:0007686	Abnormal pupillary function	28962	OSTM1	OMIM:259720
HP:0007686	Abnormal pupillary function	9692	PRORP	OMIM:619737
HP:0007686	Abnormal pupillary function	5376	PMP22	ORPHA:90658
HP:0007686	Abnormal pupillary function	4359	MPZ	OMIM:118200
HP:0007686	Abnormal pupillary function	80781	COL18A1	OMIM:267750
HP:0007686	Abnormal pupillary function	9255	AIMP1	OMIM:260600
HP:0007686	Abnormal pupillary function	5631	PRPS1	ORPHA:423479
HP:0007686	Abnormal pupillary function	8292	COLQ	ORPHA:98915
HP:0007686	Abnormal pupillary function	3913	LAMB2	ORPHA:98915
HP:0007686	Abnormal pupillary function	7287	TULP1	OMIM:613843
HP:0007686	Abnormal pupillary function	2581	GALC	ORPHA:206436
HP:0007686	Abnormal pupillary function	5660	PSAP	ORPHA:206436
HP:0007686	Abnormal pupillary function	1131	CHRM3	OMIM:100100
HP:0007686	Abnormal pupillary function	1136	CHRNA3	OMIM:191800
HP:0007687	Unilateral ptosis	55027	HEATR3	OMIM:620072
HP:0007687	Unilateral ptosis	22827	PUF60	ORPHA:508498
HP:0007687	Unilateral ptosis	2239	GPC4	OMIM:301026
HP:0007687	Unilateral ptosis	6611	SMS	ORPHA:3063
HP:0007687	Unilateral ptosis	8243	SMC1A	OMIM:301044
HP:0007687	Unilateral ptosis	116931	MED12L	OMIM:618872
HP:0007687	Unilateral ptosis	51434	ANAPC7	OMIM:619699
HP:0007687	Unilateral ptosis	83479	DDX59	OMIM:174300
HP:0007687	Unilateral ptosis	57539	WDR35	OMIM:613610
HP:0007687	Unilateral ptosis	3211	HOXB1	OMIM:614744
HP:0007687	Unilateral ptosis	11043	MID2	OMIM:300928
HP:0007687	Unilateral ptosis	6650	CAPN15	OMIM:619318
HP:0007687	Unilateral ptosis	84570	COL25A1	ORPHA:91411
HP:0007687	Unilateral ptosis	79776	ZFHX4	ORPHA:91411
HP:0033542	Bronchial wall thickening	96459	FNIP1	OMIM:619705
HP:0033542	Bronchial wall thickening	54768	HYDIN	OMIM:608647
HP:0033542	Bronchial wall thickening	5062	PAK2	OMIM:618458
HP:0033542	Bronchial wall thickening	21	ABCA3	OMIM:610921
HP:0033542	Bronchial wall thickening	10551	AGR2	OMIM:620233
HP:0033542	Bronchial wall thickening	79989	IFT56	OMIM:619534
HP:0033542	Bronchial wall thickening	6440	SFTPC	OMIM:610913
HP:0007690	Map-dot-fingerprint corneal dystrophy	7045	TGFBI	OMIM:121820
HP:0000608	Macular degeneration	26121	PRPF31	OMIM:600138
HP:0000608	Macular degeneration	735	C9	OMIM:615591
HP:0000608	Macular degeneration	83394	PITPNM3	OMIM:600977
HP:0000608	Macular degeneration	24	ABCA4	OMIM:248200
HP:0000608	Macular degeneration	24	ABCA4	ORPHA:827
HP:0000608	Macular degeneration	24	ABCA4	OMIM:153800
HP:0000608	Macular degeneration	6103	RPGR	OMIM:300834
HP:0000608	Macular degeneration	84839	RAX2	OMIM:610381
HP:0000608	Macular degeneration	84839	RAX2	OMIM:613757
HP:0000608	Macular degeneration	94137	RP1L1	OMIM:618826
HP:0000608	Macular degeneration	3426	CFI	OMIM:615439
HP:0000608	Macular degeneration	8842	PROM1	ORPHA:827
HP:0000608	Macular degeneration	8842	PROM1	OMIM:612095
HP:0000608	Macular degeneration	8842	PROM1	OMIM:603786
HP:0000608	Macular degeneration	5961	PRPH2	ORPHA:827
HP:0000608	Macular degeneration	6785	ELOVL4	ORPHA:827
HP:0000608	Macular degeneration	54714	CNGB3	ORPHA:827
HP:0000608	Macular degeneration	5654	HTRA1	OMIM:610149
HP:0000608	Macular degeneration	1471	CST3	OMIM:611953
HP:0000608	Macular degeneration	130557	ZNF513	OMIM:613617
HP:0000608	Macular degeneration	10516	FBLN5	OMIM:608895
HP:0000608	Macular degeneration	10516	FBLN5	OMIM:619764
HP:0000608	Macular degeneration	23503	ZFYVE26	OMIM:270700
HP:0000608	Macular degeneration	49855	SCAPER	OMIM:618195
HP:0000608	Macular degeneration	6011	GRK1	ORPHA:75382
HP:0000608	Macular degeneration	6295	SAG	ORPHA:75382
HP:0000608	Macular degeneration	114902	C1QTNF5	ORPHA:67042
HP:0000608	Macular degeneration	368	ABCC6	OMIM:177850
HP:0000608	Macular degeneration	368	ABCC6	OMIM:264800
HP:0000608	Macular degeneration	6017	RLBP1	ORPHA:85128
HP:0000608	Macular degeneration	6017	RLBP1	OMIM:607475
HP:0000608	Macular degeneration	64131	XYLT1	OMIM:264800
HP:0000608	Macular degeneration	64132	XYLT2	OMIM:264800
HP:0000608	Macular degeneration	123016	TTC8	OMIM:613464
HP:0000608	Macular degeneration	1356	CP	ORPHA:48818
HP:0000608	Macular degeneration	9128	PRPF4	OMIM:615922
HP:0000608	Macular degeneration	224	ALDH3A2	ORPHA:816
HP:0000608	Macular degeneration	224	ALDH3A2	OMIM:270200
HP:0000608	Macular degeneration	768206	PRCD	OMIM:610599
HP:0000608	Macular degeneration	2979	GUCA1B	OMIM:613827
HP:0000608	Macular degeneration	6314	ATXN7	OMIM:164500
HP:0000608	Macular degeneration	6314	ATXN7	ORPHA:94147
HP:0000608	Macular degeneration	80208	SPG11	OMIM:604360
HP:0000608	Macular degeneration	348	APOE	OMIM:603075
HP:0000608	Macular degeneration	83872	HMCN1	OMIM:603075
HP:0000608	Macular degeneration	3078	CFHR1	OMIM:603075
HP:0000608	Macular degeneration	10878	CFHR3	OMIM:603075
HP:0000608	Macular degeneration	2192	FBLN1	ORPHA:404451
HP:0000608	Macular degeneration	427	ASAH1	ORPHA:333
HP:0000608	Macular degeneration	55129	ANO10	ORPHA:284289
HP:0000608	Macular degeneration	64218	SEMA4A	OMIM:610283
HP:0000608	Macular degeneration	5538	PPT1	OMIM:256730
HP:0000608	Macular degeneration	57096	RPGRIP1	OMIM:608194
HP:0000608	Macular degeneration	84131	CEP78	OMIM:617236
HP:0000608	Macular degeneration	404672	GTF2H5	ORPHA:33364
HP:0000608	Macular degeneration	833	CARS1	ORPHA:33364
HP:0000608	Macular degeneration	2068	ERCC2	ORPHA:33364
HP:0000608	Macular degeneration	7737	RNF113A	ORPHA:33364
HP:0000608	Macular degeneration	136647	MPLKIP	ORPHA:33364
HP:0000608	Macular degeneration	6897	TARS1	ORPHA:33364
HP:0000608	Macular degeneration	2071	ERCC3	ORPHA:33364
HP:0000608	Macular degeneration	2961	GTF2E2	ORPHA:33364
HP:0000608	Macular degeneration	26146	TRAF3IP1	OMIM:616629
HP:0000608	Macular degeneration	5076	PAX2	OMIM:120330
HP:0000608	Macular degeneration	9742	IFT140	OMIM:266920
HP:0000608	Macular degeneration	3980	LIG3	OMIM:619780
HP:0000608	Macular degeneration	1201	CLN3	OMIM:204200
HP:0000608	Macular degeneration	1001	CDH3	ORPHA:1573
HP:0000608	Macular degeneration	80781	COL18A1	ORPHA:1571
HP:0000608	Macular degeneration	5062	PAK2	ORPHA:1571
HP:0000608	Macular degeneration	1258	CNGB1	OMIM:613767
HP:0000608	Macular degeneration	3075	CFH	OMIM:610698
HP:0000608	Macular degeneration	2201	FBN2	OMIM:616118
HP:0000608	Macular degeneration	2202	EFEMP1	ORPHA:75376
HP:0000608	Macular degeneration	57724	EPG5	OMIM:242840
HP:0000608	Macular degeneration	22999	RIMS1	OMIM:603649
HP:0000608	Macular degeneration	9785	DHX38	OMIM:618220
HP:0000608	Macular degeneration	7867	MAPKAPK3	OMIM:617111
HP:0000608	Macular degeneration	128338	DRAM2	OMIM:616502
HP:0000608	Macular degeneration	23568	ARL2BP	OMIM:615434
HP:0000608	Macular degeneration	4901	NRL	OMIM:613750
HP:0000608	Macular degeneration	8565	YARS1	OMIM:619418
HP:0000608	Macular degeneration	157657	CFAP418	OMIM:614500
HP:0000608	Macular degeneration	54585	LZTFL1	OMIM:615994
HP:0000608	Macular degeneration	57728	WDR19	OMIM:616307
HP:0000608	Macular degeneration	9187	SLC24A1	OMIM:613830
HP:0000608	Macular degeneration	26504	CNNM4	OMIM:217080
HP:0000608	Macular degeneration	6533	SLC6A6	OMIM:145350
HP:0000608	Macular degeneration	6247	RS1	OMIM:312700
HP:0000608	Macular degeneration	6100	RP9	OMIM:180104
HP:0000608	Macular degeneration	2978	GUCA1A	OMIM:602093
HP:0000608	Macular degeneration	2978	GUCA1A	ORPHA:75377
HP:0000608	Macular degeneration	64802	NMNAT1	OMIM:608553
HP:0000608	Macular degeneration	64802	NMNAT1	OMIM:619260
HP:0000608	Macular degeneration	4990	SIX6	OMIM:212550
HP:0000608	Macular degeneration	23746	AIPL1	OMIM:604393
HP:0000608	Macular degeneration	10733	PLK4	OMIM:616171
HP:0000608	Macular degeneration	3000	GUCY2D	OMIM:601777
HP:0000608	Macular degeneration	3000	GUCY2D	ORPHA:75377
HP:0000608	Macular degeneration	6010	RHO	ORPHA:52427
HP:0000608	Macular degeneration	5959	RDH5	ORPHA:52427
HP:0000608	Macular degeneration	2629	GBA1	OMIM:230800
HP:0000608	Macular degeneration	3098	HK1	OMIM:617460
HP:0000608	Macular degeneration	5130	PCYT1A	ORPHA:85167
HP:0000608	Macular degeneration	10461	MERTK	OMIM:613862
HP:0000608	Macular degeneration	22926	ATF6	OMIM:616517
HP:0000608	Macular degeneration	169522	KCNV2	OMIM:610356
HP:0000608	Macular degeneration	10002	NR2E3	OMIM:611131
HP:0000608	Macular degeneration	7439	BEST1	ORPHA:1243
HP:0000608	Macular degeneration	7439	BEST1	OMIM:153700
HP:0000608	Macular degeneration	4982	TNFRSF11B	OMIM:239000
HP:0000608	Macular degeneration	3105	HLA-A	ORPHA:179
HP:0000608	Macular degeneration	6452	SH3BP2	OMIM:118400
HP:0007695	Abnormal pupillary light reflex	79628	SH3TC2	OMIM:601596
HP:0007695	Abnormal pupillary light reflex	79628	SH3TC2	ORPHA:99949
HP:0007695	Abnormal pupillary light reflex	22926	ATF6	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	5146	PDE6C	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	6103	RPGR	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	5149	PDE6H	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	2780	GNAT2	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	1261	CNGA3	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	54714	CNGB3	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	9227	LRAT	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	55812	SPATA7	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	6121	RPE65	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	167691	LCA5	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	80781	COL18A1	OMIM:267750
HP:0007695	Abnormal pupillary light reflex	4359	MPZ	OMIM:607736
HP:0007695	Abnormal pupillary light reflex	9255	AIMP1	OMIM:260600
HP:0007695	Abnormal pupillary light reflex	5631	PRPS1	ORPHA:423479
HP:0007695	Abnormal pupillary light reflex	5376	PMP22	ORPHA:90658
HP:0007695	Abnormal pupillary light reflex	8292	COLQ	ORPHA:98915
HP:0007695	Abnormal pupillary light reflex	3913	LAMB2	ORPHA:98915
HP:0007695	Abnormal pupillary light reflex	7287	TULP1	OMIM:613843
HP:0007695	Abnormal pupillary light reflex	2581	GALC	ORPHA:206436
HP:0007695	Abnormal pupillary light reflex	5660	PSAP	ORPHA:206436
HP:0007695	Abnormal pupillary light reflex	1131	CHRM3	OMIM:100100
HP:0007695	Abnormal pupillary light reflex	1136	CHRNA3	OMIM:191800
HP:0007697	Hypoplasia of the lower eyelids	1984	EIF5A	OMIM:619376
HP:0033559	Anti-myeloperoxidase antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0033566	Abnormal ventricular axis	2548	GAA	OMIM:232300
HP:0033566	Abnormal ventricular axis	4625	MYH7	OMIM:255160
HP:0033566	Abnormal ventricular axis	7139	TNNT2	OMIM:612422
HP:0033566	Abnormal ventricular axis	51422	PRKAG2	OMIM:261740
HP:0033567	Right axis deviation	2548	GAA	OMIM:232300
HP:0033567	Right axis deviation	4625	MYH7	OMIM:255160
HP:0033568	Left axis deviation	7139	TNNT2	OMIM:612422
HP:0033568	Left axis deviation	51422	PRKAG2	OMIM:261740
HP:0033578	Pre-capillary pulmonary hypertension	94	ACVRL1	OMIM:600376
HP:0033578	Pre-capillary pulmonary hypertension	94	ACVRL1	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	4702	NDUFA8	OMIM:619272
HP:0033578	Pre-capillary pulmonary hypertension	4352	MPL	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	7066	THPO	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	3717	JAK2	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	2294	FOXF1	OMIM:265380
HP:0033578	Pre-capillary pulmonary hypertension	2294	FOXF1	ORPHA:210122
HP:0033578	Pre-capillary pulmonary hypertension	4558	MT-TF	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4572	MT-TQ	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4512	MT-CO1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4513	MT-CO2	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4514	MT-CO3	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4578	MT-TW	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4540	MT-ND5	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4541	MT-ND6	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4535	MT-ND1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4538	MT-ND4	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4567	MT-TL1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4574	MT-TS1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4575	MT-TS2	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4564	MT-TH	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	7428	VHL	OMIM:263400
HP:0033578	Pre-capillary pulmonary hypertension	79717	PPCS	OMIM:618189
HP:0033578	Pre-capillary pulmonary hypertension	776	CACNA1D	OMIM:615474
HP:0033578	Pre-capillary pulmonary hypertension	776	CACNA1D	ORPHA:369929
HP:0033578	Pre-capillary pulmonary hypertension	498	ATP5F1A	OMIM:616045
HP:0033578	Pre-capillary pulmonary hypertension	775	CACNA1C	OMIM:620029
HP:0033578	Pre-capillary pulmonary hypertension	775	CACNA1C	OMIM:601005
HP:0033578	Pre-capillary pulmonary hypertension	81857	MED25	OMIM:616449
HP:0033578	Pre-capillary pulmonary hypertension	81857	MED25	ORPHA:464738
HP:0033578	Pre-capillary pulmonary hypertension	3875	KRT18	OMIM:215600
HP:0033578	Pre-capillary pulmonary hypertension	8854	ALDH1A2	OMIM:620025
HP:0033578	Pre-capillary pulmonary hypertension	1277	COL1A1	OMIM:259420
HP:0033578	Pre-capillary pulmonary hypertension	1278	COL1A2	OMIM:259420
HP:0033578	Pre-capillary pulmonary hypertension	1235	CCR6	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1235	CCR6	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	79932	KIAA0319L	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1490	CCN2	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1490	CCN2	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	3663	IRF5	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	3663	IRF5	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	OMIM:606721
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	OMIM:615343
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	OMIM:181000
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	411	ARSB	OMIM:253200
HP:0033578	Pre-capillary pulmonary hypertension	10312	TCIRG1	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	1186	CLCN7	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	29887	SNX10	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	8600	TNFSF11	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	27125	AFF4	ORPHA:444077
HP:0033578	Pre-capillary pulmonary hypertension	4784	NFIX	ORPHA:447980
HP:0033578	Pre-capillary pulmonary hypertension	4784	NFIX	OMIM:602535
HP:0033578	Pre-capillary pulmonary hypertension	55315	SLC29A3	OMIM:602782
HP:0033578	Pre-capillary pulmonary hypertension	1349	COX7B	OMIM:300887
HP:0033578	Pre-capillary pulmonary hypertension	23395	LARS2	OMIM:617021
HP:0033578	Pre-capillary pulmonary hypertension	6440	SFTPC	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	6440	SFTPC	OMIM:610913
HP:0033578	Pre-capillary pulmonary hypertension	727897	MUC5B	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	729238	SFTPA2	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	7015	TERT	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	51601	LIPT1	OMIM:616299
HP:0033578	Pre-capillary pulmonary hypertension	440275	EIF2AK4	OMIM:234810
HP:0033578	Pre-capillary pulmonary hypertension	3908	LAMA2	ORPHA:258
HP:0033578	Pre-capillary pulmonary hypertension	9382	COG1	ORPHA:263508
HP:0033578	Pre-capillary pulmonary hypertension	6439	SFTPB	OMIM:265120
HP:0033578	Pre-capillary pulmonary hypertension	6439	SFTPB	ORPHA:217563
HP:0033578	Pre-capillary pulmonary hypertension	1340	COX6B1	OMIM:619051
HP:0033578	Pre-capillary pulmonary hypertension	2022	ENG	OMIM:187300
HP:0033578	Pre-capillary pulmonary hypertension	2022	ENG	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	65082	VPS33A	ORPHA:505248
HP:0033578	Pre-capillary pulmonary hypertension	1351	COX8A	OMIM:619059
HP:0033578	Pre-capillary pulmonary hypertension	50619	DEF6	OMIM:619573
HP:0033578	Pre-capillary pulmonary hypertension	79572	ATP13A3	OMIM:265400
HP:0033578	Pre-capillary pulmonary hypertension	8260	NAA10	OMIM:300855
HP:0033578	Pre-capillary pulmonary hypertension	9469	CHST3	OMIM:143095
HP:0033578	Pre-capillary pulmonary hypertension	9968	MED12	ORPHA:93932
HP:0033578	Pre-capillary pulmonary hypertension	92579	G6PC3	OMIM:612541
HP:0033578	Pre-capillary pulmonary hypertension	56244	BTNL2	OMIM:612387
HP:0033578	Pre-capillary pulmonary hypertension	2260	FGFR1	ORPHA:2396
HP:0033578	Pre-capillary pulmonary hypertension	3845	KRAS	ORPHA:2396
HP:0033578	Pre-capillary pulmonary hypertension	7080	NKX2-1	ORPHA:209905
HP:0033578	Pre-capillary pulmonary hypertension	55750	AGK	OMIM:212350
HP:0033578	Pre-capillary pulmonary hypertension	9377	COX5A	OMIM:619064
HP:0033578	Pre-capillary pulmonary hypertension	9496	TBX4	ORPHA:261279
HP:0033578	Pre-capillary pulmonary hypertension	9896	FIG4	ORPHA:3472
HP:0033578	Pre-capillary pulmonary hypertension	9896	FIG4	OMIM:216340
HP:0033578	Pre-capillary pulmonary hypertension	55697	VAC14	ORPHA:3472
HP:0033578	Pre-capillary pulmonary hypertension	3977	LIFR	OMIM:601559
HP:0033578	Pre-capillary pulmonary hypertension	659	BMPR2	OMIM:178600
HP:0033578	Pre-capillary pulmonary hypertension	659	BMPR2	OMIM:265450
HP:0033578	Pre-capillary pulmonary hypertension	5826	ABCD4	OMIM:614857
HP:0033578	Pre-capillary pulmonary hypertension	3425	IDUA	OMIM:607015
HP:0033578	Pre-capillary pulmonary hypertension	4763	NF1	ORPHA:97685
HP:0033578	Pre-capillary pulmonary hypertension	760	CA2	ORPHA:2785
HP:0033578	Pre-capillary pulmonary hypertension	10370	CITED2	ORPHA:99105
HP:0033578	Pre-capillary pulmonary hypertension	10370	CITED2	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	7092	TLL1	ORPHA:99106
HP:0033578	Pre-capillary pulmonary hypertension	7092	TLL1	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	57057	TBX20	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	4624	MYH6	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	1482	NKX2-5	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	70	ACTC1	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2626	GATA4	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2627	GATA6	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2627	GATA6	OMIM:614475
HP:0033578	Pre-capillary pulmonary hypertension	7840	ALMS1	ORPHA:64
HP:0033578	Pre-capillary pulmonary hypertension	6772	STAT1	ORPHA:391487
HP:0033578	Pre-capillary pulmonary hypertension	10043	TOM1	ORPHA:391487
HP:0033578	Pre-capillary pulmonary hypertension	3572	IL6ST	OMIM:619751
HP:0033578	Pre-capillary pulmonary hypertension	2261	FGFR3	OMIM:616482
HP:0033578	Pre-capillary pulmonary hypertension	10664	CTCF	ORPHA:363611
HP:0033578	Pre-capillary pulmonary hypertension	10526	IPO8	OMIM:619472
HP:0033578	Pre-capillary pulmonary hypertension	5167	ENPP1	ORPHA:51608
HP:0033578	Pre-capillary pulmonary hypertension	368	ABCC6	ORPHA:51608
HP:0033578	Pre-capillary pulmonary hypertension	2200	FBN1	OMIM:614185
HP:0033578	Pre-capillary pulmonary hypertension	4607	MYBPC3	OMIM:615396
HP:0033578	Pre-capillary pulmonary hypertension	7414	VCL	OMIM:613255
HP:0033578	Pre-capillary pulmonary hypertension	29957	SLC25A24	OMIM:612289
HP:0033578	Pre-capillary pulmonary hypertension	57514	ARHGAP31	OMIM:100300
HP:0033578	Pre-capillary pulmonary hypertension	57514	ARHGAP31	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	8085	KMT2D	OMIM:620186
HP:0033578	Pre-capillary pulmonary hypertension	8517	IKBKG	ORPHA:464
HP:0033578	Pre-capillary pulmonary hypertension	4000	LMNA	ORPHA:740
HP:0033578	Pre-capillary pulmonary hypertension	10269	ZMPSTE24	ORPHA:740
HP:0033578	Pre-capillary pulmonary hypertension	23556	PIGN	ORPHA:280633
HP:0033578	Pre-capillary pulmonary hypertension	3043	HBB	ORPHA:231222
HP:0033578	Pre-capillary pulmonary hypertension	4716	NDUFB10	OMIM:619003
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	OMIM:230800
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:2072
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:77261
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:77259
HP:0033578	Pre-capillary pulmonary hypertension	374879	ZNF699	OMIM:619488
HP:0033578	Pre-capillary pulmonary hypertension	27086	FOXP1	ORPHA:391372
HP:0033578	Pre-capillary pulmonary hypertension	4256	MGP	ORPHA:85202
HP:0033578	Pre-capillary pulmonary hypertension	50485	SMARCAL1	ORPHA:1830
HP:0033578	Pre-capillary pulmonary hypertension	50485	SMARCAL1	OMIM:242900
HP:0033578	Pre-capillary pulmonary hypertension	8292	COLQ	ORPHA:98915
HP:0033578	Pre-capillary pulmonary hypertension	3913	LAMB2	ORPHA:98915
HP:0033578	Pre-capillary pulmonary hypertension	4625	MYH7	OMIM:613426
HP:0033578	Pre-capillary pulmonary hypertension	388015	RTL1	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	8788	DLK1	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	55384	MEG3	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	10551	AGR2	OMIM:620233
HP:0033578	Pre-capillary pulmonary hypertension	3516	RBPJ	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	4851	NOTCH1	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	4851	NOTCH1	OMIM:616028
HP:0033578	Pre-capillary pulmonary hypertension	57572	DOCK6	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	285203	EOGT	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	54567	DLL4	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	2658	GDF2	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	4089	SMAD4	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	6123	RPL3L	OMIM:619371
HP:0033578	Pre-capillary pulmonary hypertension	79989	IFT56	OMIM:619534
HP:0033578	Pre-capillary pulmonary hypertension	8815	BANF1	OMIM:614008
HP:0033578	Pre-capillary pulmonary hypertension	5236	PGM1	OMIM:614921
HP:0033578	Pre-capillary pulmonary hypertension	25974	MMACHC	ORPHA:79282
HP:0033578	Pre-capillary pulmonary hypertension	5557	PRIM1	OMIM:620005
HP:0033578	Pre-capillary pulmonary hypertension	59	ACTA2	OMIM:613834
HP:0033578	Pre-capillary pulmonary hypertension	3593	IL12B	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	3106	HLA-B	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	6945	MLX	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	64127	NOD2	ORPHA:90340
HP:0033578	Pre-capillary pulmonary hypertension	55901	THSD1	OMIM:620244
HP:0033578	Pre-capillary pulmonary hypertension	3339	HSPG2	ORPHA:800
HP:0033578	Pre-capillary pulmonary hypertension	2542	SLC37A4	OMIM:232240
HP:0033578	Pre-capillary pulmonary hypertension	27247	NFU1	OMIM:605711
HP:0033578	Pre-capillary pulmonary hypertension	8295	TRRAP	OMIM:618454
HP:0033578	Pre-capillary pulmonary hypertension	93233	ODAD1	OMIM:615067
HP:0033578	Pre-capillary pulmonary hypertension	4093	SMAD9	OMIM:615342
HP:0033578	Pre-capillary pulmonary hypertension	51025	PAM16	OMIM:613320
HP:0033578	Pre-capillary pulmonary hypertension	2316	FLNA	OMIM:309350
HP:0033578	Pre-capillary pulmonary hypertension	3777	KCNK3	OMIM:615344
HP:0033578	Pre-capillary pulmonary hypertension	23590	PDSS1	OMIM:614651
HP:0033578	Pre-capillary pulmonary hypertension	7319	UBE2A	ORPHA:163956
HP:0033578	Pre-capillary pulmonary hypertension	54938	SARS2	OMIM:613845
HP:0033578	Pre-capillary pulmonary hypertension	389827	MYMK	OMIM:254940
HP:0033578	Pre-capillary pulmonary hypertension	950	SCARB2	ORPHA:77259
HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	5443	POMC	OMIM:609734
HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	5573	PRKAR1A	OMIM:101800
HP:0033581	Absent peripheral lymph nodes in presence of infection	3718	JAK3	OMIM:600802
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3115	HLA-DPB1	ORPHA:133
HP:0033582	Pulmonary interstitial lymphocyte infiltration	6777	STAT5B	OMIM:245590
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3560	IL2RB	OMIM:618495
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3559	IL2RA	OMIM:606367
HP:0033584	Nonspecific interstitial pneumonia	21	ABCA3	OMIM:610921
HP:0033584	Nonspecific interstitial pneumonia	653509	SFTPA1	OMIM:619611
HP:0033584	Nonspecific interstitial pneumonia	6440	SFTPC	OMIM:610913
HP:0033589	Flatulence	4175	MCM6	OMIM:223100
HP:0033594	Elevated urinary 7-biopterin level	5092	PCBD1	OMIM:264070
HP:0033595	Elevated circulating globotriaosylceramide concentration	2717	GLA	OMIM:301500
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	3141	HLCS	OMIM:253270
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	56922	MCCC1	OMIM:210200
HP:0033597	Decreased mucosal sucrase-isomaltase activity	6476	SI	OMIM:222900
HP:0200101	Decreased/absent ankle reflexes	291	SLC25A4	ORPHA:254892
HP:0200101	Decreased/absent ankle reflexes	5428	POLG	ORPHA:254892
HP:0200101	Decreased/absent ankle reflexes	5428	POLG	OMIM:607459
HP:0200101	Decreased/absent ankle reflexes	56652	TWNK	ORPHA:254892
HP:0200101	Decreased/absent ankle reflexes	56652	TWNK	OMIM:607459
HP:0200101	Decreased/absent ankle reflexes	11232	POLG2	ORPHA:254892
HP:0200101	Decreased/absent ankle reflexes	50484	RRM2B	ORPHA:254892
HP:0200101	Decreased/absent ankle reflexes	1410	CRYAB	OMIM:608810
HP:0200101	Decreased/absent ankle reflexes	4287	ATXN3	OMIM:109150
HP:0200101	Decreased/absent ankle reflexes	57003	CCDC47	OMIM:618268
HP:0200101	Decreased/absent ankle reflexes	3094	HINT1	ORPHA:324442
HP:0200101	Decreased/absent ankle reflexes	80207	OPA3	ORPHA:67036
HP:0200101	Decreased/absent ankle reflexes	8988	HSPB3	OMIM:613376
HP:0200101	Decreased/absent ankle reflexes	7415	VCP	ORPHA:435387
HP:0200101	Decreased/absent ankle reflexes	7415	VCP	OMIM:616687
HP:0200101	Decreased/absent ankle reflexes	22880	MORC2	OMIM:616688
HP:0200101	Decreased/absent ankle reflexes	57863	CADM3	OMIM:619519
HP:0200101	Decreased/absent ankle reflexes	4361	MRE11	ORPHA:251347
HP:0200101	Decreased/absent ankle reflexes	4361	MRE11	OMIM:604391
HP:0200101	Decreased/absent ankle reflexes	5165	PDK3	OMIM:300905
HP:0200101	Decreased/absent ankle reflexes	5165	PDK3	ORPHA:352675
HP:0200101	Decreased/absent ankle reflexes	64837	KLC2	OMIM:609541
HP:0200101	Decreased/absent ankle reflexes	10159	ATP6AP2	ORPHA:93952
HP:0200101	Decreased/absent ankle reflexes	6606	SMN1	OMIM:253400
HP:0200101	Decreased/absent ankle reflexes	6607	SMN2	OMIM:253400
HP:0200101	Decreased/absent ankle reflexes	25894	PLEKHG4	ORPHA:98765
HP:0200101	Decreased/absent ankle reflexes	7879	RAB7A	OMIM:600882
HP:0200101	Decreased/absent ankle reflexes	7504	XK	OMIM:300842
HP:0200101	Decreased/absent ankle reflexes	55958	KLHL9	ORPHA:399081
HP:0200101	Decreased/absent ankle reflexes	5375	PMP2	OMIM:618279
HP:0200101	Decreased/absent ankle reflexes	23204	ARL6IP1	OMIM:615685
HP:0200101	Decreased/absent ankle reflexes	5192	PEX10	OMIM:614871
HP:0200101	Decreased/absent ankle reflexes	65055	REEP1	OMIM:614751
HP:0200101	Decreased/absent ankle reflexes	65055	REEP1	OMIM:620011
HP:0200101	Decreased/absent ankle reflexes	3035	HARS1	ORPHA:488333
HP:0200101	Decreased/absent ankle reflexes	3035	HARS1	OMIM:616625
HP:0200101	Decreased/absent ankle reflexes	26278	SACS	OMIM:270550
HP:0200101	Decreased/absent ankle reflexes	26278	SACS	ORPHA:98
HP:0200101	Decreased/absent ankle reflexes	10280	SIGMAR1	OMIM:605726
HP:0200101	Decreased/absent ankle reflexes	8878	SQSTM1	OMIM:617158
HP:0200101	Decreased/absent ankle reflexes	5832	ALDH18A1	ORPHA:447757
HP:0200101	Decreased/absent ankle reflexes	5832	ALDH18A1	ORPHA:447760
HP:0200101	Decreased/absent ankle reflexes	10020	GNE	ORPHA:602
HP:0200101	Decreased/absent ankle reflexes	2632	GBE1	OMIM:263570
HP:0200101	Decreased/absent ankle reflexes	59345	GNB4	OMIM:615185
HP:0200101	Decreased/absent ankle reflexes	16	AARS1	OMIM:613287
HP:0200101	Decreased/absent ankle reflexes	7453	WARS1	OMIM:617721
HP:0200101	Decreased/absent ankle reflexes	23230	VPS13A	ORPHA:2388
HP:0200101	Decreased/absent ankle reflexes	9927	MFN2	ORPHA:99947
HP:0200101	Decreased/absent ankle reflexes	1861	TOR1A	OMIM:128100
HP:0200101	Decreased/absent ankle reflexes	4976	OPA1	ORPHA:1215
HP:0200101	Decreased/absent ankle reflexes	8291	DYSF	OMIM:254130
HP:0200101	Decreased/absent ankle reflexes	8291	DYSF	ORPHA:45448
HP:0200101	Decreased/absent ankle reflexes	5238	PGM3	ORPHA:443811
HP:0200101	Decreased/absent ankle reflexes	10743	RAI1	ORPHA:477817
HP:0200101	Decreased/absent ankle reflexes	4747	NEFL	ORPHA:99939
HP:0200101	Decreased/absent ankle reflexes	2705	GJB1	ORPHA:1175
HP:0200102	Sparse or absent eyelashes	54345	SOX18	OMIM:137940
HP:0200102	Sparse or absent eyelashes	54345	SOX18	OMIM:607823
HP:0200102	Sparse or absent eyelashes	54345	SOX18	ORPHA:69735
HP:0200102	Sparse or absent eyelashes	8626	TP63	OMIM:106260
HP:0200102	Sparse or absent eyelashes	5317	PKP1	OMIM:604536
HP:0200102	Sparse or absent eyelashes	1896	EDA	OMIM:305100
HP:0200102	Sparse or absent eyelashes	1832	DSP	ORPHA:158687
HP:0200102	Sparse or absent eyelashes	3728	JUP	ORPHA:158687
HP:0200102	Sparse or absent eyelashes	4035	LRP1	OMIM:604093
HP:0200102	Sparse or absent eyelashes	673	BRAF	OMIM:115150
HP:0200102	Sparse or absent eyelashes	128178	EDARADD	OMIM:614941
HP:0200102	Sparse or absent eyelashes	64682	ANAPC1	OMIM:618625
HP:0200102	Sparse or absent eyelashes	11128	POLR3A	OMIM:264090
HP:0200102	Sparse or absent eyelashes	10269	ZMPSTE24	OMIM:275210
HP:0200102	Sparse or absent eyelashes	80144	FRAS1	OMIM:219000
HP:0200102	Sparse or absent eyelashes	3891	KRT85	OMIM:602032
HP:0200102	Sparse or absent eyelashes	55806	HR	ORPHA:701
HP:0200102	Sparse or absent eyelashes	55806	HR	OMIM:203655
HP:0200102	Sparse or absent eyelashes	10283	CWC27	ORPHA:166035
HP:0200102	Sparse or absent eyelashes	117581	TWIST2	ORPHA:920
HP:0200102	Sparse or absent eyelashes	117581	TWIST2	OMIM:200110
HP:0200102	Sparse or absent eyelashes	9401	RECQL4	OMIM:268400
HP:0200102	Sparse or absent eyelashes	2255	FGF10	OMIM:620193
HP:0200102	Sparse or absent eyelashes	2706	GJB2	OMIM:602540
HP:0200102	Sparse or absent eyelashes	84172	POLR1B	ORPHA:861
HP:0200102	Sparse or absent eyelashes	9533	POLR1C	ORPHA:861
HP:0200102	Sparse or absent eyelashes	51082	POLR1D	ORPHA:861
HP:0200102	Sparse or absent eyelashes	6949	TCOF1	ORPHA:861
HP:0200102	Sparse or absent eyelashes	51360	MBTPS2	OMIM:308205
HP:0200102	Sparse or absent eyelashes	54101	RIPK4	OMIM:263650
HP:0200102	Sparse or absent eyelashes	4000	LMNA	ORPHA:363618
HP:0200102	Sparse or absent eyelashes	4000	LMNA	ORPHA:90153
HP:0200102	Sparse or absent eyelashes	4953	ODC1	ORPHA:544488
HP:0200102	Sparse or absent eyelashes	3229	HOXC13	OMIM:614931
HP:0200102	Sparse or absent eyelashes	10651	MTX2	ORPHA:90153
HP:0200102	Sparse or absent eyelashes	26227	PHGDH	OMIM:256520
HP:0200102	Sparse or absent eyelashes	147495	APCDD1	OMIM:605389
HP:0200102	Sparse or absent eyelashes	147495	APCDD1	ORPHA:55654
HP:0200102	Sparse or absent eyelashes	60529	ALX4	OMIM:613451
HP:0200102	Sparse or absent eyelashes	81607	NECTIN4	OMIM:613573
HP:0200102	Sparse or absent eyelashes	100151683	RNU4ATAC	OMIM:210710
HP:0200102	Sparse or absent eyelashes	8092	ALX1	OMIM:613456
HP:0200102	Sparse or absent eyelashes	8092	ALX1	ORPHA:306542
HP:0200102	Sparse or absent eyelashes	57539	WDR35	OMIM:613610
HP:0200102	Sparse or absent eyelashes	1736	DKC1	OMIM:305000
HP:0200102	Sparse or absent eyelashes	267010	RNU12	OMIM:603116
HP:0200102	Sparse or absent eyelashes	1825	DSC3	OMIM:613102
HP:0200102	Sparse or absent eyelashes	9076	CLDN1	ORPHA:59303
HP:0200102	Sparse or absent eyelashes	9076	CLDN1	OMIM:607626
HP:0200102	Sparse or absent eyelashes	7298	TYMS	OMIM:620040
HP:0200102	Sparse or absent eyelashes	6595	SMARCA2	OMIM:619293
HP:0200102	Sparse or absent eyelashes	83999	KREMEN1	OMIM:617392
HP:0200102	Sparse or absent eyelashes	10265	IRX5	OMIM:611174
HP:0200102	Sparse or absent eyelashes	112802	KRT71	OMIM:615896
HP:0200102	Sparse or absent eyelashes	1801	DPH1	OMIM:616901
HP:0200102	Sparse or absent eyelashes	22845	DOLK	OMIM:610768
HP:0200102	Sparse or absent eyelashes	10804	GJB6	OMIM:129500
HP:0200102	Sparse or absent eyelashes	10804	GJB6	ORPHA:477
HP:0200102	Sparse or absent eyelashes	10804	GJB6	ORPHA:189
HP:0200102	Sparse or absent eyelashes	6768	ST14	OMIM:602400
HP:0200102	Sparse or absent eyelashes	7286	TUFT1	OMIM:607655
HP:0200102	Sparse or absent eyelashes	1301	COL11A1	ORPHA:560
HP:0200102	Sparse or absent eyelashes	9896	FIG4	ORPHA:3472
HP:0200102	Sparse or absent eyelashes	9896	FIG4	OMIM:216340
HP:0200102	Sparse or absent eyelashes	55697	VAC14	ORPHA:3472
HP:0200102	Sparse or absent eyelashes	10682	EBP	ORPHA:35173
HP:0200102	Sparse or absent eyelashes	10682	EBP	OMIM:302960
HP:0200102	Sparse or absent eyelashes	1474	CST6	OMIM:618535
HP:0200102	Sparse or absent eyelashes	374393	FAM111B	OMIM:615704
HP:0200102	Sparse or absent eyelashes	2697	GJA1	OMIM:257850
HP:0200102	Sparse or absent eyelashes	2697	GJA1	ORPHA:1010
HP:0200102	Sparse or absent eyelashes	11285	B4GALT7	ORPHA:75496
HP:0200102	Sparse or absent eyelashes	200879	LIPH	OMIM:604379
HP:0200102	Sparse or absent eyelashes	200879	LIPH	ORPHA:55654
HP:0200102	Sparse or absent eyelashes	147183	KRT25	OMIM:616760
HP:0200102	Sparse or absent eyelashes	55651	NHP2	OMIM:224230
HP:0200102	Sparse or absent eyelashes	55505	NOP10	OMIM:224230
HP:0200102	Sparse or absent eyelashes	1001	CDH3	OMIM:225280
HP:0200102	Sparse or absent eyelashes	6023	RMRP	OMIM:250250
HP:0200102	Sparse or absent eyelashes	1909	EDNRA	OMIM:616367
HP:0200102	Sparse or absent eyelashes	3675	ITGA3	OMIM:614748
HP:0200102	Sparse or absent eyelashes	10913	EDAR	OMIM:129490
HP:0200102	Sparse or absent eyelashes	10913	EDAR	OMIM:224900
HP:0200102	Sparse or absent eyelashes	4047	LSS	ORPHA:55654
HP:0200102	Sparse or absent eyelashes	147409	DSG4	ORPHA:55654
HP:0200102	Sparse or absent eyelashes	147409	DSG4	OMIM:607903
HP:0200102	Sparse or absent eyelashes	10161	LPAR6	ORPHA:55654
HP:0200102	Sparse or absent eyelashes	10161	LPAR6	OMIM:278150
HP:0200102	Sparse or absent eyelashes	51611	DPH5	OMIM:620070
HP:0200102	Sparse or absent eyelashes	136647	MPLKIP	OMIM:234050
HP:0200102	Sparse or absent eyelashes	25959	KANK2	OMIM:616099
HP:0200102	Sparse or absent eyelashes	54676	GTPBP2	OMIM:617988
HP:0200102	Sparse or absent eyelashes	84946	LTV1	OMIM:620199
HP:0200102	Sparse or absent eyelashes	4763	NF1	ORPHA:139474
HP:0200102	Sparse or absent eyelashes	1748	DLX4	OMIM:616788
HP:0200102	Sparse or absent eyelashes	5818	NECTIN1	OMIM:225060
HP:0200102	Sparse or absent eyelashes	84168	ANTXR1	OMIM:230740
HP:0200102	Sparse or absent eyelashes	84168	ANTXR1	ORPHA:2067
HP:0200102	Sparse or absent eyelashes	8815	BANF1	OMIM:614008
HP:0200102	Sparse or absent eyelashes	121391	KRT74	OMIM:614929
HP:0200102	Sparse or absent eyelashes	641	BLM	ORPHA:125
HP:0200102	Sparse or absent eyelashes	90121	TSR2	OMIM:300946
HP:0200102	Sparse or absent eyelashes	120766137	HRURF	OMIM:146550
HP:0200102	Sparse or absent eyelashes	7227	TRPS1	ORPHA:77258
HP:0200102	Sparse or absent eyelashes	11005	SPINK5	ORPHA:634
HP:0200102	Sparse or absent eyelashes	10262	SF3B4	ORPHA:245
HP:0200102	Sparse or absent eyelashes	10262	SF3B4	OMIM:154400
HP:0200102	Sparse or absent eyelashes	79574	EPS8L3	ORPHA:444
HP:0200102	Sparse or absent eyelashes	6144	RPL21	OMIM:615885
HP:0200102	Sparse or absent eyelashes	6635	SNRPE	OMIM:615059
HP:0200102	Sparse or absent eyelashes	5604	MAP2K1	ORPHA:1340
HP:0200102	Sparse or absent eyelashes	5605	MAP2K2	ORPHA:1340
HP:0200102	Sparse or absent eyelashes	3845	KRAS	ORPHA:1340
HP:0200105	Absent fifth toenail	8289	ARID1A	OMIM:614607
HP:0200105	Absent fifth toenail	5281	PIGF	OMIM:619356
HP:0200106	Absent/shortened dynein arms	27019	DNAI1	OMIM:244400
HP:0200106	Absent/shortened dynein arms	56683	CFAP298	OMIM:615500
HP:0200106	Absent/shortened dynein arms	54919	DNAAF5	OMIM:614874
HP:0200106	Absent/shortened dynein arms	115948	ODAD3	OMIM:616037
HP:0200106	Absent/shortened dynein arms	64446	DNAI2	OMIM:612444
HP:0200106	Absent/shortened dynein arms	83544	DNAL1	OMIM:614017
HP:0200106	Absent/shortened dynein arms	1770	DNAH9	OMIM:618300
HP:0200106	Absent/shortened dynein arms	123872	DNAAF1	OMIM:613193
HP:0200106	Absent/shortened dynein arms	93233	ODAD1	OMIM:615067
HP:0200106	Absent/shortened dynein arms	339829	CCDC39	OMIM:613807
HP:0200106	Absent/shortened dynein arms	51364	ZMYND10	OMIM:615444
HP:0200106	Absent/shortened dynein arms	85016	CFAP300	OMIM:618063
HP:0200106	Absent/shortened dynein arms	54970	TTC12	OMIM:618801
HP:0200106	Absent/shortened dynein arms	352909	DNAAF3	OMIM:606763
HP:0200106	Absent/shortened dynein arms	23639	DNAAF11	OMIM:614935
HP:0200106	Absent/shortened dynein arms	51314	NME8	OMIM:610852
HP:0200109	Absent/shortened outer dynein arms	51314	NME8	OMIM:610852
HP:0200114	Metabolic alkalosis	3291	HSD11B2	ORPHA:320
HP:0200114	Metabolic alkalosis	6557	SLC12A1	OMIM:601678
HP:0200114	Metabolic alkalosis	7809	BSND	ORPHA:89938
HP:0200114	Metabolic alkalosis	1188	CLCNKB	ORPHA:89938
HP:0200114	Metabolic alkalosis	1188	CLCNKB	OMIM:607364
HP:0200114	Metabolic alkalosis	1187	CLCNKA	ORPHA:89938
HP:0200114	Metabolic alkalosis	3106	HLA-B	ORPHA:36426
HP:0200114	Metabolic alkalosis	10320	IKZF1	ORPHA:36426
HP:0200114	Metabolic alkalosis	3758	KCNJ1	OMIM:241200
HP:0200114	Metabolic alkalosis	3766	KCNJ10	OMIM:612780
HP:0200114	Metabolic alkalosis	6340	SCNN1G	OMIM:618114
HP:0200114	Metabolic alkalosis	776	CACNA1D	ORPHA:369929
HP:0200114	Metabolic alkalosis	776	CACNA1D	OMIM:615474
HP:0200114	Metabolic alkalosis	6337	SCNN1A	OMIM:618126
HP:0200114	Metabolic alkalosis	2908	NR3C1	OMIM:615962
HP:0200114	Metabolic alkalosis	2908	NR3C1	ORPHA:786
HP:0200114	Metabolic alkalosis	1811	SLC26A3	OMIM:214700
HP:0200114	Metabolic alkalosis	79731	NARS2	OMIM:616239
HP:0200114	Metabolic alkalosis	3762	KCNJ5	ORPHA:251274
HP:0200114	Metabolic alkalosis	6559	SLC12A3	ORPHA:358
HP:0200114	Metabolic alkalosis	1181	CLCN2	ORPHA:404
HP:0200116	Distal ileal atresia	129563	DIS3L2	OMIM:267000
HP:0200117	Recurrent upper and lower respiratory tract infections	2737	GLI3	ORPHA:672
HP:0200117	Recurrent upper and lower respiratory tract infections	5896	RAG1	ORPHA:331206
HP:0200117	Recurrent upper and lower respiratory tract infections	5897	RAG2	ORPHA:331206
HP:0200117	Recurrent upper and lower respiratory tract infections	4247	MGAT2	ORPHA:79329
HP:0200117	Recurrent upper and lower respiratory tract infections	8239	USP9X	ORPHA:480880
HP:0200117	Recurrent upper and lower respiratory tract infections	57379	AICDA	OMIM:605258
HP:0200117	Recurrent upper and lower respiratory tract infections	64421	DCLRE1C	ORPHA:275
HP:0200117	Recurrent upper and lower respiratory tract infections	7374	UNG	OMIM:608106
HP:0200117	Recurrent upper and lower respiratory tract infections	6340	SCNN1G	ORPHA:171876
HP:0200117	Recurrent upper and lower respiratory tract infections	6337	SCNN1A	ORPHA:171876
HP:0200117	Recurrent upper and lower respiratory tract infections	6338	SCNN1B	ORPHA:171876
HP:0200117	Recurrent upper and lower respiratory tract infections	29969	MDFIC	OMIM:620014
HP:0200117	Recurrent upper and lower respiratory tract infections	7535	ZAP70	ORPHA:911
HP:0200118	Malabsorption of Vitamin B12	8029	CUBN	ORPHA:35858
HP:0200118	Malabsorption of Vitamin B12	8029	CUBN	OMIM:261100
HP:0200118	Malabsorption of Vitamin B12	81693	AMN	ORPHA:35858
HP:0200118	Malabsorption of Vitamin B12	2694	CBLIF	OMIM:261000
HP:0010705	4-5 finger syndactyly	2697	GJA1	OMIM:186100
HP:0010705	4-5 finger syndactyly	2697	GJA1	OMIM:164200
HP:0010705	4-5 finger syndactyly	2697	GJA1	OMIM:257850
HP:0010705	4-5 finger syndactyly	1832	DSP	ORPHA:158687
HP:0010705	4-5 finger syndactyly	3728	JUP	ORPHA:158687
HP:0010705	4-5 finger syndactyly	25914	RTTN	ORPHA:468631
HP:0010705	4-5 finger syndactyly	23327	NEDD4L	OMIM:617201
HP:0200119	Acute hepatitis	540	ATP7B	ORPHA:905
HP:0200119	Acute hepatitis	10166	SLC25A15	OMIM:238970
HP:0010708	1-5 finger syndactyly	64327	LMBR1	ORPHA:93405
HP:0010708	1-5 finger syndactyly	64327	LMBR1	OMIM:186200
HP:0010708	1-5 finger syndactyly	6469	SHH	ORPHA:93405
HP:0010707	1-4 finger syndactyly	1001	CDH3	OMIM:225280
HP:0200120	Chronic active hepatitis	721	C4B	OMIM:614379
HP:0200120	Chronic active hepatitis	7840	ALMS1	OMIM:203800
HP:0200120	Chronic active hepatitis	326	AIRE	OMIM:240300
HP:0200122	Atypical or prolonged hepatitis	540	ATP7B	OMIM:277900
HP:0200123	Chronic hepatitis	721	C4B	OMIM:614379
HP:0200123	Chronic hepatitis	7840	ALMS1	OMIM:203800
HP:0200123	Chronic hepatitis	326	AIRE	OMIM:240300
HP:0200123	Chronic hepatitis	6499	SKIC2	OMIM:614602
HP:0200123	Chronic hepatitis	5236	PGM1	OMIM:614921
HP:0200123	Chronic hepatitis	3043	HBB	ORPHA:231226
HP:0200123	Chronic hepatitis	959	CD40LG	OMIM:308230
HP:0200123	Chronic hepatitis	50615	IL21R	OMIM:615207
HP:0200123	Chronic hepatitis	5994	RFXAP	ORPHA:572
HP:0200123	Chronic hepatitis	4261	CIITA	ORPHA:572
HP:0200123	Chronic hepatitis	5993	RFX5	ORPHA:572
HP:0200123	Chronic hepatitis	8625	RFXANK	ORPHA:572
HP:0200124	Chronic hepatitis due to cryptosporidium infection	50615	IL21R	OMIM:615207
HP:0200124	Chronic hepatitis due to cryptosporidium infection	5994	RFXAP	ORPHA:572
HP:0200124	Chronic hepatitis due to cryptosporidium infection	4261	CIITA	ORPHA:572
HP:0200124	Chronic hepatitis due to cryptosporidium infection	5993	RFX5	ORPHA:572
HP:0200124	Chronic hepatitis due to cryptosporidium infection	8625	RFXANK	ORPHA:572
HP:0200125	Mitochondrial respiratory chain defects	1593	CYP27A1	ORPHA:909
HP:0200125	Mitochondrial respiratory chain defects	87178	PNPT1	ORPHA:319514
HP:0200125	Mitochondrial respiratory chain defects	55687	TRMU	OMIM:613070
HP:0200125	Mitochondrial respiratory chain defects	26235	FBXL4	OMIM:615471
HP:0200125	Mitochondrial respiratory chain defects	84277	DNAJC30	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4535	MT-ND1	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4536	MT-ND2	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4538	MT-ND4	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4720	NDUFS2	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4512	MT-CO1	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4514	MT-CO3	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4519	MT-CYB	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4508	MT-ATP6	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4540	MT-ND5	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4541	MT-ND6	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	4539	MT-ND4L	ORPHA:104
HP:0200125	Mitochondrial respiratory chain defects	5495	PPM1B	ORPHA:163693
HP:0200125	Mitochondrial respiratory chain defects	6519	SLC3A1	ORPHA:163693
HP:0200125	Mitochondrial respiratory chain defects	9581	PREPL	ORPHA:163693
HP:0200125	Mitochondrial respiratory chain defects	79823	CAMKMT	ORPHA:163693
HP:0010711	1-2 toe syndactyly	6299	SALL1	OMIM:107480
HP:0010711	1-2 toe syndactyly	8243	SMC1A	OMIM:301044
HP:0010711	1-2 toe syndactyly	51776	MAP3K20	ORPHA:488232
HP:0010711	1-2 toe syndactyly	51776	MAP3K20	OMIM:616890
HP:0010712	1-4 toe syndactyly	23327	NEDD4L	OMIM:617201
HP:0010715	2-5 toe syndactyly	7291	TWIST1	OMIM:617746
HP:0010715	2-5 toe syndactyly	64093	SMOC1	OMIM:206920
HP:0010716	3-5 toe syndactyly	92002	CCNQ	OMIM:300707
HP:0200128	Biventricular hypertrophy	745	MYRF	OMIM:618280
HP:0200128	Biventricular hypertrophy	6888	TALDO1	ORPHA:101028
HP:0200128	Biventricular hypertrophy	51422	PRKAG2	OMIM:261740
HP:0200128	Biventricular hypertrophy	126328	NDUFA11	OMIM:618236
HP:0200128	Biventricular hypertrophy	4633	MYL2	OMIM:619424
HP:0200128	Biventricular hypertrophy	776	CACNA1D	OMIM:615474
HP:0200128	Biventricular hypertrophy	50619	DEF6	OMIM:619573
HP:0200128	Biventricular hypertrophy	7134	TNNC1	OMIM:613243
HP:0200128	Biventricular hypertrophy	529	ATP6V1E1	OMIM:617402
HP:0200128	Biventricular hypertrophy	4625	MYH7	OMIM:255160
HP:0200128	Biventricular hypertrophy	79087	ALG12	ORPHA:79324
HP:0200127	Atrial cardiomyopathy	2702	GJA5	OMIM:108770
HP:0200127	Atrial cardiomyopathy	4878	NPPA	OMIM:615745
HP:0000527	Long eyelashes	8243	SMC1A	OMIM:300590
HP:0000527	Long eyelashes	8243	SMC1A	ORPHA:199
HP:0000527	Long eyelashes	8036	SHOC2	OMIM:607721
HP:0000527	Long eyelashes	11253	MAN1B1	ORPHA:397941
HP:0000527	Long eyelashes	23013	SPEN	OMIM:619312
HP:0000527	Long eyelashes	8367	H4C5	OMIM:619950
HP:0000527	Long eyelashes	9853	RUSC2	OMIM:617773
HP:0000527	Long eyelashes	6228	RPS23	OMIM:617412
HP:0000527	Long eyelashes	4897	NRCAM	OMIM:619833
HP:0000527	Long eyelashes	10586	MAB21L2	OMIM:615877
HP:0000527	Long eyelashes	10274	STAG1	ORPHA:502434
HP:0000527	Long eyelashes	85358	SHANK3	OMIM:606232
HP:0000527	Long eyelashes	85358	SHANK3	ORPHA:48652
HP:0000527	Long eyelashes	84570	COL25A1	ORPHA:91411
HP:0000527	Long eyelashes	79776	ZFHX4	ORPHA:91411
HP:0000527	Long eyelashes	27125	AFF4	ORPHA:444077
HP:0000527	Long eyelashes	27125	AFF4	OMIM:616368
HP:0000527	Long eyelashes	55869	HDAC8	OMIM:300882
HP:0000527	Long eyelashes	55869	HDAC8	ORPHA:199
HP:0000527	Long eyelashes	10847	SRCAP	OMIM:136140
HP:0000527	Long eyelashes	1436	CSF1R	OMIM:618476
HP:0000527	Long eyelashes	9578	CDC42BPB	OMIM:619841
HP:0000527	Long eyelashes	29998	BICRA	OMIM:619325
HP:0000527	Long eyelashes	80816	ASXL3	OMIM:615485
HP:0000527	Long eyelashes	10978	CLP1	ORPHA:411493
HP:0000527	Long eyelashes	10978	CLP1	OMIM:615803
HP:0000527	Long eyelashes	6536	SLC6A9	OMIM:617301
HP:0000527	Long eyelashes	51506	UFC1	OMIM:618076
HP:0000527	Long eyelashes	9442	MED27	OMIM:619286
HP:0000527	Long eyelashes	65082	VPS33A	OMIM:617303
HP:0000527	Long eyelashes	65082	VPS33A	ORPHA:505248
HP:0000527	Long eyelashes	526	ATP6V1B2	OMIM:616455
HP:0000527	Long eyelashes	526	ATP6V1B2	ORPHA:3473
HP:0000527	Long eyelashes	8085	KMT2D	ORPHA:2322
HP:0000527	Long eyelashes	7403	KDM6A	ORPHA:2322
HP:0000527	Long eyelashes	7403	KDM6A	OMIM:300867
HP:0000527	Long eyelashes	55690	PACS1	OMIM:615009
HP:0000527	Long eyelashes	55690	PACS1	ORPHA:329224
HP:0000527	Long eyelashes	4081	MAB21L1	OMIM:618479
HP:0000527	Long eyelashes	2250	FGF5	OMIM:190330
HP:0000527	Long eyelashes	10908	PNPLA6	OMIM:275400
HP:0000527	Long eyelashes	3764	KCNJ8	ORPHA:1517
HP:0000527	Long eyelashes	10060	ABCC9	ORPHA:1517
HP:0000527	Long eyelashes	10060	ABCC9	OMIM:239850
HP:0000527	Long eyelashes	9126	SMC3	OMIM:610759
HP:0000527	Long eyelashes	9126	SMC3	ORPHA:199
HP:0000527	Long eyelashes	4297	KMT2A	OMIM:605130
HP:0000527	Long eyelashes	4297	KMT2A	ORPHA:319182
HP:0000527	Long eyelashes	6595	SMARCA2	OMIM:619293
HP:0000527	Long eyelashes	6595	SMARCA2	ORPHA:3051
HP:0000527	Long eyelashes	6595	SMARCA2	OMIM:601358
HP:0000527	Long eyelashes	55777	MBD5	OMIM:156200
HP:0000527	Long eyelashes	23221	RHOBTB2	OMIM:618004
HP:0000527	Long eyelashes	57492	ARID1B	OMIM:135900
HP:0000527	Long eyelashes	1956	EGFR	OMIM:616069
HP:0000527	Long eyelashes	4998	ORC1	OMIM:224690
HP:0000527	Long eyelashes	6601	SMARCC2	OMIM:618362
HP:0000527	Long eyelashes	4052	LTBP1	OMIM:619451
HP:0000527	Long eyelashes	8260	NAA10	OMIM:300855
HP:0000527	Long eyelashes	80204	FBXO11	OMIM:618089
HP:0000527	Long eyelashes	8120	AP3B2	OMIM:617276
HP:0000527	Long eyelashes	5119	CHMP1A	OMIM:614961
HP:0000527	Long eyelashes	55603	TENT5A	OMIM:617952
HP:0000527	Long eyelashes	4853	NOTCH2	OMIM:102500
HP:0000527	Long eyelashes	64359	NXN	OMIM:618529
HP:0000527	Long eyelashes	64359	NXN	ORPHA:1507
HP:0000527	Long eyelashes	4920	ROR2	ORPHA:1507
HP:0000527	Long eyelashes	4920	ROR2	OMIM:268310
HP:0000527	Long eyelashes	8289	ARID1A	OMIM:614607
HP:0000527	Long eyelashes	7841	MOGS	OMIM:606056
HP:0000527	Long eyelashes	7841	MOGS	ORPHA:79330
HP:0000527	Long eyelashes	2200	FBN1	ORPHA:969
HP:0000527	Long eyelashes	2200	FBN1	OMIM:102370
HP:0000527	Long eyelashes	4054	LTBP3	ORPHA:969
HP:0000527	Long eyelashes	6598	SMARCB1	OMIM:614608
HP:0000527	Long eyelashes	6597	SMARCA4	OMIM:614609
HP:0000527	Long eyelashes	22827	PUF60	ORPHA:508488
HP:0000527	Long eyelashes	9377	COX5A	OMIM:619064
HP:0000527	Long eyelashes	6045	RNF2	OMIM:619460
HP:0000527	Long eyelashes	6872	TAF1	ORPHA:480907
HP:0000527	Long eyelashes	23258	DENND5A	OMIM:617281
HP:0000527	Long eyelashes	9496	TBX4	ORPHA:261279
HP:0000527	Long eyelashes	1105	CHD1	OMIM:617682
HP:0000527	Long eyelashes	22872	SEC31A	OMIM:618651
HP:0000527	Long eyelashes	283987	HID1	OMIM:619983
HP:0000527	Long eyelashes	23314	SATB2	OMIM:612313
HP:0000527	Long eyelashes	649	BMP1	OMIM:614856
HP:0000527	Long eyelashes	2783	GNB2	OMIM:619503
HP:0000527	Long eyelashes	3782	KCNN3	OMIM:618658
HP:0000527	Long eyelashes	3782	KCNN3	ORPHA:3473
HP:0000527	Long eyelashes	3756	KCNH1	ORPHA:3473
HP:0000527	Long eyelashes	3756	KCNH1	ORPHA:420561
HP:0000527	Long eyelashes	4247	MGAT2	OMIM:212066
HP:0000527	Long eyelashes	4247	MGAT2	ORPHA:79329
HP:0000527	Long eyelashes	23476	BRD4	ORPHA:199
HP:0000527	Long eyelashes	25836	NIPBL	ORPHA:199
HP:0000527	Long eyelashes	25836	NIPBL	OMIM:122470
HP:0000527	Long eyelashes	5885	RAD21	ORPHA:199
HP:0000527	Long eyelashes	50801	KCNK4	OMIM:618381
HP:0000527	Long eyelashes	10664	CTCF	ORPHA:363611
HP:0000527	Long eyelashes	10664	CTCF	OMIM:615502
HP:0000527	Long eyelashes	57003	CCDC47	OMIM:618268
HP:0000527	Long eyelashes	157680	VPS13B	ORPHA:193
HP:0000527	Long eyelashes	9150	CTDP1	ORPHA:48431
HP:0000527	Long eyelashes	149371	EXOC8	OMIM:619076
HP:0000527	Long eyelashes	51633	OTUD6B	OMIM:617452
HP:0000527	Long eyelashes	51633	OTUD6B	ORPHA:505237
HP:0000527	Long eyelashes	1387	CREBBP	OMIM:180849
HP:0000527	Long eyelashes	1387	CREBBP	OMIM:618332
HP:0000527	Long eyelashes	2033	EP300	OMIM:180849
HP:0000527	Long eyelashes	2033	EP300	OMIM:613684
HP:0000527	Long eyelashes	1857	DVL3	ORPHA:3107
HP:0000527	Long eyelashes	1857	DVL3	OMIM:616894
HP:0000527	Long eyelashes	7474	WNT5A	ORPHA:3107
HP:0000527	Long eyelashes	7474	WNT5A	OMIM:180700
HP:0000527	Long eyelashes	1855	DVL1	ORPHA:3107
HP:0000527	Long eyelashes	1855	DVL1	OMIM:180700
HP:0000527	Long eyelashes	2535	FZD2	ORPHA:3107
HP:0000527	Long eyelashes	92609	TIMM50	OMIM:617698
HP:0000527	Long eyelashes	85440	DOCK7	ORPHA:411986
HP:0000527	Long eyelashes	85440	DOCK7	OMIM:615859
HP:0000527	Long eyelashes	54499	TMCO1	OMIM:213980
HP:0000527	Long eyelashes	8405	SPOP	OMIM:618828
HP:0000527	Long eyelashes	283209	PGM2L1	OMIM:620191
HP:0000527	Long eyelashes	4094	MAF	ORPHA:1272
HP:0000527	Long eyelashes	374879	ZNF699	OMIM:619488
HP:0000527	Long eyelashes	51305	KCNK9	OMIM:612292
HP:0000527	Long eyelashes	8567	MADD	OMIM:619005
HP:0000527	Long eyelashes	1806	DPYD	ORPHA:1675
HP:0000527	Long eyelashes	23261	CAMTA1	OMIM:614756
HP:0000527	Long eyelashes	6605	SMARCE1	OMIM:616938
HP:0000527	Long eyelashes	55343	SLC35C1	ORPHA:99843
HP:0000527	Long eyelashes	55691	FRMD4A	OMIM:616819
HP:0000527	Long eyelashes	55691	FRMD4A	ORPHA:466688
HP:0000527	Long eyelashes	5495	PPM1B	ORPHA:163693
HP:0000527	Long eyelashes	6519	SLC3A1	ORPHA:163693
HP:0000527	Long eyelashes	9581	PREPL	ORPHA:163693
HP:0000527	Long eyelashes	79823	CAMKMT	ORPHA:163693
HP:0000527	Long eyelashes	55252	ASXL2	OMIM:617190
HP:0000527	Long eyelashes	10463	SLC30A9	OMIM:617595
HP:0000527	Long eyelashes	57479	PRR12	OMIM:619539
HP:0000527	Long eyelashes	738	VPS51	OMIM:618606
HP:0000527	Long eyelashes	4848	CNOT2	OMIM:618608
HP:0000527	Long eyelashes	84842	HPDL	OMIM:619026
HP:0000527	Long eyelashes	5881	RAC3	OMIM:618577
HP:0000527	Long eyelashes	672	BRCA1	OMIM:617883
HP:0000527	Long eyelashes	9181	ARHGEF2	OMIM:617523
HP:0000527	Long eyelashes	6878	TAF6	OMIM:617126
HP:0000527	Long eyelashes	1642	DDB1	OMIM:619426
HP:0000527	Long eyelashes	7407	VARS1	OMIM:617802
HP:0000527	Long eyelashes	6664	SOX11	OMIM:615866
HP:0000527	Long eyelashes	3339	HSPG2	OMIM:255800
HP:0000527	Long eyelashes	3339	HSPG2	ORPHA:800
HP:0000527	Long eyelashes	29957	SLC25A24	ORPHA:2963
HP:0000527	Long eyelashes	2702	GJA5	OMIM:612474
HP:0000527	Long eyelashes	2703	GJA8	OMIM:612474
HP:0000501	Glaucoma	1409	CRYAA	OMIM:604219
HP:0000501	Glaucoma	875	CBS	ORPHA:394
HP:0000501	Glaucoma	875	CBS	OMIM:236200
HP:0000501	Glaucoma	23141	ANKLE2	OMIM:616681
HP:0000501	Glaucoma	4099	MAG	OMIM:616680
HP:0000501	Glaucoma	6775	STAT4	ORPHA:85410
HP:0000501	Glaucoma	3560	IL2RB	ORPHA:85410
HP:0000501	Glaucoma	79722	ANKRD55	ORPHA:85410
HP:0000501	Glaucoma	26191	PTPN22	ORPHA:85410
HP:0000501	Glaucoma	26191	PTPN22	ORPHA:3437
HP:0000501	Glaucoma	919	CD247	ORPHA:85410
HP:0000501	Glaucoma	3559	IL2RA	ORPHA:85410
HP:0000501	Glaucoma	5771	PTPN2	ORPHA:85410
HP:0000501	Glaucoma	5631	PRPS1	ORPHA:411543
HP:0000501	Glaucoma	5631	PRPS1	OMIM:300661
HP:0000501	Glaucoma	145173	B3GLCT	ORPHA:709
HP:0000501	Glaucoma	145173	B3GLCT	OMIM:261540
HP:0000501	Glaucoma	9401	RECQL4	OMIM:268400
HP:0000501	Glaucoma	4016	LOXL1	OMIM:177650
HP:0000501	Glaucoma	64412	GZF1	OMIM:617662
HP:0000501	Glaucoma	84892	POMGNT2	OMIM:614830
HP:0000501	Glaucoma	84892	POMGNT2	ORPHA:899
HP:0000501	Glaucoma	1717	DHCR7	ORPHA:818
HP:0000501	Glaucoma	5189	PEX1	OMIM:214100
HP:0000501	Glaucoma	5189	PEX1	ORPHA:912
HP:0000501	Glaucoma	1301	COL11A1	OMIM:154780
HP:0000501	Glaucoma	1301	COL11A1	OMIM:604841
HP:0000501	Glaucoma	1301	COL11A1	ORPHA:560
HP:0000501	Glaucoma	23418	CRB1	ORPHA:35612
HP:0000501	Glaucoma	23418	CRB1	ORPHA:791
HP:0000501	Glaucoma	7439	BEST1	ORPHA:35612
HP:0000501	Glaucoma	7439	BEST1	ORPHA:791
HP:0000501	Glaucoma	7439	BEST1	OMIM:193220
HP:0000501	Glaucoma	6657	SOX2	ORPHA:35612
HP:0000501	Glaucoma	220	ALDH1A3	ORPHA:35612
HP:0000501	Glaucoma	646960	PRSS56	ORPHA:35612
HP:0000501	Glaucoma	83552	MFRP	ORPHA:35612
HP:0000501	Glaucoma	30062	RAX	ORPHA:35612
HP:0000501	Glaucoma	5015	OTX2	ORPHA:35612
HP:0000501	Glaucoma	170691	ADAMTS17	OMIM:613195
HP:0000501	Glaucoma	50484	RRM2B	OMIM:613077
HP:0000501	Glaucoma	113189	CHST14	ORPHA:2953
HP:0000501	Glaucoma	113189	CHST14	OMIM:601776
HP:0000501	Glaucoma	29940	DSE	ORPHA:2953
HP:0000501	Glaucoma	54880	BCOR	ORPHA:2712
HP:0000501	Glaucoma	54880	BCOR	ORPHA:568
HP:0000501	Glaucoma	54880	BCOR	OMIM:300166
HP:0000501	Glaucoma	2200	FBN1	ORPHA:2833
HP:0000501	Glaucoma	2200	FBN1	OMIM:608328
HP:0000501	Glaucoma	2200	FBN1	ORPHA:3449
HP:0000501	Glaucoma	2200	FBN1	OMIM:154700
HP:0000501	Glaucoma	2200	FBN1	ORPHA:2084
HP:0000501	Glaucoma	84100	ARL6	OMIM:209900
HP:0000501	Glaucoma	84100	ARL6	ORPHA:791
HP:0000501	Glaucoma	79140	CCDC28B	OMIM:209900
HP:0000501	Glaucoma	582	BBS1	OMIM:209900
HP:0000501	Glaucoma	582	BBS1	ORPHA:791
HP:0000501	Glaucoma	2697	GJA1	ORPHA:2710
HP:0000501	Glaucoma	2697	GJA1	OMIM:164200
HP:0000501	Glaucoma	2697	GJA1	ORPHA:317
HP:0000501	Glaucoma	1281	COL3A1	ORPHA:286
HP:0000501	Glaucoma	9184	BUB3	ORPHA:1052
HP:0000501	Glaucoma	699	BUB1	ORPHA:1052
HP:0000501	Glaucoma	9702	CEP57	ORPHA:1052
HP:0000501	Glaucoma	9319	TRIP13	ORPHA:1052
HP:0000501	Glaucoma	701	BUB1B	ORPHA:1052
HP:0000501	Glaucoma	64127	NOD2	OMIM:186580
HP:0000501	Glaucoma	64127	NOD2	ORPHA:90340
HP:0000501	Glaucoma	7466	WFS1	OMIM:614296
HP:0000501	Glaucoma	7466	WFS1	ORPHA:3463
HP:0000501	Glaucoma	7466	WFS1	ORPHA:411590
HP:0000501	Glaucoma	57178	ZMIZ1	OMIM:618659
HP:0000501	Glaucoma	1201	CLN3	OMIM:204200
HP:0000501	Glaucoma	1201	CLN3	ORPHA:228346
HP:0000501	Glaucoma	3425	IDUA	OMIM:607014
HP:0000501	Glaucoma	3425	IDUA	OMIM:607016
HP:0000501	Glaucoma	3425	IDUA	ORPHA:93474
HP:0000501	Glaucoma	3425	IDUA	ORPHA:93473
HP:0000501	Glaucoma	81794	ADAMTS10	OMIM:277600
HP:0000501	Glaucoma	81794	ADAMTS10	ORPHA:3449
HP:0000501	Glaucoma	9508	ADAMTS3	ORPHA:2136
HP:0000501	Glaucoma	147372	CCBE1	ORPHA:2136
HP:0000501	Glaucoma	147372	CCBE1	OMIM:235510
HP:0000501	Glaucoma	79633	FAT4	ORPHA:2136
HP:0000501	Glaucoma	6804	STX1A	ORPHA:904
HP:0000501	Glaucoma	7461	CLIP2	ORPHA:904
HP:0000501	Glaucoma	84277	DNAJC30	ORPHA:904
HP:0000501	Glaucoma	8468	FKBP6	ORPHA:904
HP:0000501	Glaucoma	5982	RFC2	ORPHA:904
HP:0000501	Glaucoma	2969	GTF2I	ORPHA:904
HP:0000501	Glaucoma	3984	LIMK1	ORPHA:904
HP:0000501	Glaucoma	9569	GTF2IRD1	ORPHA:904
HP:0000501	Glaucoma	155382	VPS37D	ORPHA:904
HP:0000501	Glaucoma	155368	METTL27	ORPHA:904
HP:0000501	Glaucoma	114049	BUD23	ORPHA:904
HP:0000501	Glaucoma	7458	EIF4H	ORPHA:904
HP:0000501	Glaucoma	84163	GTF2IRD2	ORPHA:904
HP:0000501	Glaucoma	9275	BCL7B	ORPHA:904
HP:0000501	Glaucoma	26608	TBL2	ORPHA:904
HP:0000501	Glaucoma	653361	NCF1	ORPHA:904
HP:0000501	Glaucoma	135886	TMEM270	ORPHA:904
HP:0000501	Glaucoma	51085	MLXIPL	ORPHA:904
HP:0000501	Glaucoma	9031	BAZ1B	ORPHA:904
HP:0000501	Glaucoma	2006	ELN	ORPHA:904
HP:0000501	Glaucoma	1282	COL4A1	OMIM:175780
HP:0000501	Glaucoma	1282	COL4A1	ORPHA:899
HP:0000501	Glaucoma	493856	CISD2	ORPHA:3463
HP:0000501	Glaucoma	1280	COL2A1	OMIM:108300
HP:0000501	Glaucoma	157570	ESCO2	ORPHA:3103
HP:0000501	Glaucoma	148789	B3GALNT2	ORPHA:588
HP:0000501	Glaucoma	148789	B3GALNT2	ORPHA:899
HP:0000501	Glaucoma	29925	GMPPB	ORPHA:588
HP:0000501	Glaucoma	4094	MAF	ORPHA:1272
HP:0000501	Glaucoma	2934	GSN	ORPHA:85448
HP:0000501	Glaucoma	57688	ZSWIM6	OMIM:603671
HP:0000501	Glaucoma	57688	ZSWIM6	ORPHA:1827
HP:0000501	Glaucoma	11107	PRDM5	ORPHA:90354
HP:0000501	Glaucoma	84627	ZNF469	ORPHA:90354
HP:0000501	Glaucoma	90	ACVR1	ORPHA:337
HP:0000501	Glaucoma	5727	PTCH1	ORPHA:377
HP:0000501	Glaucoma	5727	PTCH1	OMIM:109400
HP:0000501	Glaucoma	8643	PTCH2	ORPHA:377
HP:0000501	Glaucoma	51684	SUFU	ORPHA:377
HP:0000501	Glaucoma	5295	PIK3R1	OMIM:269880
HP:0000501	Glaucoma	5295	PIK3R1	ORPHA:3163
HP:0000501	Glaucoma	5286	PIK3C2A	OMIM:618440
HP:0000501	Glaucoma	5286	PIK3C2A	ORPHA:557003
HP:0000501	Glaucoma	57479	PRR12	OMIM:619539
HP:0000501	Glaucoma	729920	CRPPA	OMIM:614643
HP:0000501	Glaucoma	729920	CRPPA	ORPHA:899
HP:0000501	Glaucoma	84168	ANTXR1	OMIM:230740
HP:0000501	Glaucoma	84168	ANTXR1	ORPHA:2067
HP:0000501	Glaucoma	545	ATR	ORPHA:808
HP:0000501	Glaucoma	1062	CENPE	ORPHA:808
HP:0000501	Glaucoma	5116	PCNT	ORPHA:808
HP:0000501	Glaucoma	5932	RBBP8	ORPHA:808
HP:0000501	Glaucoma	79902	NUP85	ORPHA:808
HP:0000501	Glaucoma	84126	ATRIP	ORPHA:808
HP:0000501	Glaucoma	55835	CENPJ	ORPHA:808
HP:0000501	Glaucoma	10293	TRAIP	ORPHA:808
HP:0000501	Glaucoma	22995	CEP152	ORPHA:808
HP:0000501	Glaucoma	10733	PLK4	ORPHA:808
HP:0000501	Glaucoma	1634	DCN	OMIM:610048
HP:0000501	Glaucoma	80324	PUS1	ORPHA:2598
HP:0000501	Glaucoma	51067	YARS2	ORPHA:2598
HP:0000501	Glaucoma	10682	EBP	OMIM:302960
HP:0000501	Glaucoma	355	FAS	ORPHA:3437
HP:0000501	Glaucoma	58495	OVOL2	OMIM:122000
HP:0000501	Glaucoma	58495	OVOL2	ORPHA:98973
HP:0000501	Glaucoma	341640	FREM2	OMIM:123570
HP:0000501	Glaucoma	55670	PEX26	ORPHA:912
HP:0000501	Glaucoma	5824	PEX19	ORPHA:912
HP:0000501	Glaucoma	5828	PEX2	ORPHA:912
HP:0000501	Glaucoma	8504	PEX3	ORPHA:912
HP:0000501	Glaucoma	8799	PEX11B	ORPHA:912
HP:0000501	Glaucoma	9409	PEX16	ORPHA:912
HP:0000501	Glaucoma	5190	PEX6	ORPHA:912
HP:0000501	Glaucoma	5830	PEX5	ORPHA:912
HP:0000501	Glaucoma	5193	PEX12	ORPHA:912
HP:0000501	Glaucoma	5194	PEX13	ORPHA:912
HP:0000501	Glaucoma	5195	PEX14	ORPHA:912
HP:0000501	Glaucoma	5192	PEX10	ORPHA:912
HP:0000501	Glaucoma	389827	MYMK	OMIM:254940
HP:0000501	Glaucoma	7490	WT1	OMIM:106210
HP:0000501	Glaucoma	7490	WT1	ORPHA:893
HP:0000501	Glaucoma	6935	ZEB1	ORPHA:98973
HP:0000501	Glaucoma	30813	VSX1	ORPHA:98973
HP:0000501	Glaucoma	79977	GRHL2	ORPHA:98973
HP:0000501	Glaucoma	1296	COL8A2	ORPHA:98973
HP:0000501	Glaucoma	6247	RS1	ORPHA:792
HP:0000501	Glaucoma	92840	REEP6	ORPHA:791
HP:0000501	Glaucoma	6094	ROM1	ORPHA:791
HP:0000501	Glaucoma	6017	RLBP1	ORPHA:791
HP:0000501	Glaucoma	7401	CLRN1	ORPHA:791
HP:0000501	Glaucoma	24	ABCA4	ORPHA:791
HP:0000501	Glaucoma	130557	ZNF513	ORPHA:791
HP:0000501	Glaucoma	92211	CDHR1	ORPHA:791
HP:0000501	Glaucoma	23568	ARL2BP	ORPHA:791
HP:0000501	Glaucoma	6121	RPE65	ORPHA:791
HP:0000501	Glaucoma	54806	AHI1	ORPHA:791
HP:0000501	Glaucoma	6101	RP1	ORPHA:791
HP:0000501	Glaucoma	3419	IDH3A	ORPHA:791
HP:0000501	Glaucoma	4751	NEK2	ORPHA:791
HP:0000501	Glaucoma	346007	EYS	ORPHA:791
HP:0000501	Glaucoma	8100	IFT88	ORPHA:791
HP:0000501	Glaucoma	23020	SNRNP200	ORPHA:791
HP:0000501	Glaucoma	762	CA4	ORPHA:791
HP:0000501	Glaucoma	138050	HGSNAT	ORPHA:791
HP:0000501	Glaucoma	196	AHR	ORPHA:791
HP:0000501	Glaucoma	3614	IMPDH1	ORPHA:791
HP:0000501	Glaucoma	123016	TTC8	ORPHA:791
HP:0000501	Glaucoma	6103	RPGR	ORPHA:791
HP:0000501	Glaucoma	1406	CRX	ORPHA:791
HP:0000501	Glaucoma	5148	PDE6G	ORPHA:791
HP:0000501	Glaucoma	26160	IFT172	ORPHA:791
HP:0000501	Glaucoma	26121	PRPF31	ORPHA:791
HP:0000501	Glaucoma	583	BBS2	ORPHA:791
HP:0000501	Glaucoma	4117	MAK	ORPHA:791
HP:0000501	Glaucoma	25794	FSCN2	ORPHA:791
HP:0000501	Glaucoma	375298	CERKL	ORPHA:791
HP:0000501	Glaucoma	3420	IDH3B	ORPHA:791
HP:0000501	Glaucoma	57670	KIAA1549	ORPHA:791
HP:0000501	Glaucoma	7275	TUB	ORPHA:791
HP:0000501	Glaucoma	24148	PRPF6	ORPHA:791
HP:0000501	Glaucoma	10461	MERTK	ORPHA:791
HP:0000501	Glaucoma	57709	SLC7A14	ORPHA:791
HP:0000501	Glaucoma	768206	PRCD	ORPHA:791
HP:0000501	Glaucoma	7399	USH2A	ORPHA:791
HP:0000501	Glaucoma	23370	ARHGEF18	ORPHA:791
HP:0000501	Glaucoma	5949	RBP3	ORPHA:791
HP:0000501	Glaucoma	6010	RHO	ORPHA:791
HP:0000501	Glaucoma	6100	RP9	ORPHA:791
HP:0000501	Glaucoma	10002	NR2E3	ORPHA:791
HP:0000501	Glaucoma	9227	LRAT	ORPHA:791
HP:0000501	Glaucoma	84140	FAM161A	ORPHA:791
HP:0000501	Glaucoma	55812	SPATA7	ORPHA:791
HP:0000501	Glaucoma	79797	ZNF408	ORPHA:791
HP:0000501	Glaucoma	403	ARL3	ORPHA:791
HP:0000501	Glaucoma	5145	PDE6A	ORPHA:791
HP:0000501	Glaucoma	10210	TOPORS	ORPHA:791
HP:0000501	Glaucoma	8842	PROM1	ORPHA:791
HP:0000501	Glaucoma	9128	PRPF4	ORPHA:791
HP:0000501	Glaucoma	145226	RDH12	ORPHA:791
HP:0000501	Glaucoma	50939	IMPG2	ORPHA:791
HP:0000501	Glaucoma	8481	OFD1	ORPHA:791
HP:0000501	Glaucoma	49855	SCAPER	ORPHA:791
HP:0000501	Glaucoma	9742	IFT140	ORPHA:791
HP:0000501	Glaucoma	2979	GUCA1B	ORPHA:791
HP:0000501	Glaucoma	1259	CNGA1	ORPHA:791
HP:0000501	Glaucoma	1258	CNGB1	ORPHA:791
HP:0000501	Glaucoma	60509	AGBL5	ORPHA:791
HP:0000501	Glaucoma	5961	PRPH2	ORPHA:791
HP:0000501	Glaucoma	388939	PCARE	ORPHA:791
HP:0000501	Glaucoma	9785	DHX38	ORPHA:791
HP:0000501	Glaucoma	7287	TULP1	ORPHA:791
HP:0000501	Glaucoma	5995	RGR	ORPHA:791
HP:0000501	Glaucoma	9129	PRPF3	ORPHA:791
HP:0000501	Glaucoma	55975	KLHL7	ORPHA:791
HP:0000501	Glaucoma	3617	IMPG1	ORPHA:791
HP:0000501	Glaucoma	94137	RP1L1	ORPHA:791
HP:0000501	Glaucoma	5158	PDE6B	ORPHA:791
HP:0000501	Glaucoma	6102	RP2	ORPHA:791
HP:0000501	Glaucoma	55857	KIZ	ORPHA:791
HP:0000501	Glaucoma	64218	SEMA4A	ORPHA:791
HP:0000501	Glaucoma	4901	NRL	ORPHA:791
HP:0000501	Glaucoma	157657	CFAP418	ORPHA:791
HP:0000501	Glaucoma	10594	PRPF8	ORPHA:791
HP:0000501	Glaucoma	6295	SAG	ORPHA:791
HP:0000501	Glaucoma	79947	DHDDS	ORPHA:791
HP:0000501	Glaucoma	5351	PLOD1	OMIM:225400
HP:0000501	Glaucoma	5351	PLOD1	ORPHA:1900
HP:0000501	Glaucoma	5648	MASP1	OMIM:257920
HP:0000501	Glaucoma	1417	CRYBB3	OMIM:609741
HP:0000501	Glaucoma	411	ARSB	OMIM:253200
HP:0000501	Glaucoma	291	SLC25A4	ORPHA:1369
HP:0000501	Glaucoma	26007	TKFC	ORPHA:1369
HP:0000501	Glaucoma	55750	AGK	ORPHA:1369
HP:0000501	Glaucoma	55750	AGK	OMIM:212350
HP:0000501	Glaucoma	10397	NDRG1	OMIM:601455
HP:0000501	Glaucoma	1387	CREBBP	ORPHA:353281
HP:0000501	Glaucoma	1387	CREBBP	OMIM:180849
HP:0000501	Glaucoma	1387	CREBBP	ORPHA:353277
HP:0000501	Glaucoma	54765	TRIM44	OMIM:617142
HP:0000501	Glaucoma	54765	TRIM44	ORPHA:250923
HP:0000501	Glaucoma	23586	RIGI	OMIM:616298
HP:0000501	Glaucoma	10413	YAP1	ORPHA:1473
HP:0000501	Glaucoma	2033	EP300	ORPHA:353284
HP:0000501	Glaucoma	2033	EP300	OMIM:180849
HP:0000501	Glaucoma	10329	RXYLT1	ORPHA:899
HP:0000501	Glaucoma	11041	B4GAT1	ORPHA:899
HP:0000501	Glaucoma	84197	POMK	ORPHA:899
HP:0000501	Glaucoma	114548	NLRP3	ORPHA:575
HP:0000501	Glaucoma	4763	NF1	OMIM:162200
HP:0000501	Glaucoma	4763	NF1	ORPHA:97685
HP:0000501	Glaucoma	8671	SLC4A4	OMIM:604278
HP:0000501	Glaucoma	4810	NHS	OMIM:302350
HP:0000501	Glaucoma	4810	NHS	ORPHA:627
HP:0000501	Glaucoma	4784	NFIX	OMIM:602535
HP:0000501	Glaucoma	92255	LMBRD2	OMIM:619694
HP:0000501	Glaucoma	91851	CHRDL1	OMIM:309300
HP:0000501	Glaucoma	1312	COMT	ORPHA:567
HP:0000501	Glaucoma	221037	JMJD1C	ORPHA:567
HP:0000501	Glaucoma	2812	GP1BB	ORPHA:567
HP:0000501	Glaucoma	6239	RREB1	ORPHA:567
HP:0000501	Glaucoma	6899	TBX1	ORPHA:567
HP:0000501	Glaucoma	7290	HIRA	ORPHA:567
HP:0000501	Glaucoma	9632	SEC24C	ORPHA:567
HP:0000501	Glaucoma	7353	UFD1	ORPHA:567
HP:0000501	Glaucoma	421	ARVCF	ORPHA:567
HP:0000501	Glaucoma	1009	CDH11	OMIM:211380
HP:0000501	Glaucoma	54539	NDUFB11	ORPHA:2556
HP:0000501	Glaucoma	1349	COX7B	ORPHA:2556
HP:0000501	Glaucoma	3052	HCCS	ORPHA:2556
HP:0000501	Glaucoma	8260	NAA10	ORPHA:568
HP:0000501	Glaucoma	128637	TBC1D20	OMIM:615663
HP:0000501	Glaucoma	2707	GJB3	ORPHA:317
HP:0000501	Glaucoma	2531	KDSR	ORPHA:317
HP:0000501	Glaucoma	127534	GJB4	ORPHA:317
HP:0000501	Glaucoma	56244	BTNL2	ORPHA:797
HP:0000501	Glaucoma	3123	HLA-DRB1	ORPHA:797
HP:0000501	Glaucoma	3123	HLA-DRB1	OMIM:181000
HP:0000501	Glaucoma	23476	BRD4	ORPHA:199
HP:0000501	Glaucoma	9126	SMC3	ORPHA:199
HP:0000501	Glaucoma	8243	SMC1A	ORPHA:199
HP:0000501	Glaucoma	25836	NIPBL	ORPHA:199
HP:0000501	Glaucoma	55869	HDAC8	ORPHA:199
HP:0000501	Glaucoma	5885	RAD21	ORPHA:199
HP:0000501	Glaucoma	7040	TGFB1	ORPHA:1328
HP:0000501	Glaucoma	1412	CRYBA2	OMIM:115900
HP:0000501	Glaucoma	7078	TIMP3	OMIM:136900
HP:0000501	Glaucoma	28952	CCDC22	OMIM:300963
HP:0000501	Glaucoma	28952	CCDC22	ORPHA:7
HP:0000501	Glaucoma	3832	KIF11	ORPHA:2526
HP:0000501	Glaucoma	627	BDNF	ORPHA:893
HP:0000501	Glaucoma	126792	B3GALT6	ORPHA:536467
HP:0000501	Glaucoma	3739	KCNA4	OMIM:618284
HP:0000501	Glaucoma	10273	STUB1	ORPHA:412057
HP:0000501	Glaucoma	100151683	RNU4ATAC	ORPHA:2636
HP:0000501	Glaucoma	387	RHOA	OMIM:618727
HP:0000501	Glaucoma	64131	XYLT1	ORPHA:1425
HP:0000501	Glaucoma	55790	CSGALNACT1	ORPHA:1425
HP:0000501	Glaucoma	3265	HRAS	ORPHA:2874
HP:0000501	Glaucoma	9897	WASHC5	ORPHA:7
HP:0000501	Glaucoma	9130	FAM50A	OMIM:300261
HP:0000501	Glaucoma	23404	EXOSC2	OMIM:617763
HP:0000501	Glaucoma	9652	SKIC3	ORPHA:84064
HP:0000501	Glaucoma	6499	SKIC2	ORPHA:84064
HP:0000501	Glaucoma	1462	VCAN	OMIM:143200
HP:0000501	Glaucoma	80036	TRPM3	OMIM:620253
HP:0000501	Glaucoma	7837	PXDN	OMIM:269400
HP:0000501	Glaucoma	2776	GNAQ	OMIM:185300
HP:0000501	Glaucoma	220202	ATOH7	OMIM:221900
HP:0000501	Glaucoma	220202	ATOH7	ORPHA:91495
HP:0000501	Glaucoma	29954	POMT2	OMIM:613150
HP:0000501	Glaucoma	29954	POMT2	OMIM:236670
HP:0000501	Glaucoma	2530	FUT8	OMIM:618005
HP:0000501	Glaucoma	54892	NCAPG2	OMIM:618460
HP:0000501	Glaucoma	92949	ADAMTSL1	ORPHA:521445
HP:0000501	Glaucoma	7291	TWIST1	OMIM:101400
HP:0000501	Glaucoma	4081	MAB21L1	OMIM:618479
HP:0000501	Glaucoma	1605	DAG1	OMIM:616538
HP:0000501	Glaucoma	1605	DAG1	ORPHA:370997
HP:0000501	Glaucoma	55624	POMGNT1	OMIM:253280
HP:0000501	Glaucoma	4693	NDP	OMIM:310600
HP:0000501	Glaucoma	4693	NDP	ORPHA:91495
HP:0000501	Glaucoma	8322	FZD4	ORPHA:91495
HP:0000501	Glaucoma	4990	SIX6	OMIM:212550
HP:0000501	Glaucoma	4952	OCRL	ORPHA:534
HP:0000501	Glaucoma	4053	LTBP2	OMIM:251750
HP:0000501	Glaucoma	9215	LARGE1	OMIM:236670
HP:0000501	Glaucoma	79147	FKRP	OMIM:236670
HP:0000501	Glaucoma	10585	POMT1	OMIM:236670
HP:0000501	Glaucoma	2218	FKTN	OMIM:236670
HP:0000501	Glaucoma	5728	PTEN	ORPHA:744
HP:0000501	Glaucoma	207	AKT1	ORPHA:744
HP:0000501	Glaucoma	9469	CHST3	OMIM:245600
HP:0000501	Glaucoma	26229	B3GAT3	OMIM:245600
HP:0000501	Glaucoma	6135	RPL11	ORPHA:124
HP:0000501	Glaucoma	6138	RPL15	ORPHA:124
HP:0000501	Glaucoma	6229	RPS24	ORPHA:124
HP:0000501	Glaucoma	6125	RPL5	ORPHA:124
HP:0000501	Glaucoma	6204	RPS10	ORPHA:124
HP:0000501	Glaucoma	6224	RPS20	ORPHA:124
HP:0000501	Glaucoma	6165	RPL35A	ORPHA:124
HP:0000501	Glaucoma	2623	GATA1	ORPHA:124
HP:0000501	Glaucoma	6223	RPS19	ORPHA:124
HP:0000501	Glaucoma	6232	RPS27	ORPHA:124
HP:0000501	Glaucoma	6231	RPS26	ORPHA:124
HP:0000501	Glaucoma	11224	RPL35	ORPHA:124
HP:0000501	Glaucoma	6160	RPL31	ORPHA:124
HP:0000501	Glaucoma	6218	RPS17	ORPHA:124
HP:0000501	Glaucoma	6201	RPS7	ORPHA:124
HP:0000501	Glaucoma	6155	RPL27	ORPHA:124
HP:0000501	Glaucoma	6154	RPL26	ORPHA:124
HP:0000501	Glaucoma	6210	RPS15A	ORPHA:124
HP:0000501	Glaucoma	90121	TSR2	ORPHA:124
HP:0000501	Glaucoma	6141	RPL18	ORPHA:124
HP:0000501	Glaucoma	6235	RPS29	ORPHA:124
HP:0000501	Glaucoma	6234	RPS28	ORPHA:124
HP:0000501	Glaucoma	51816	ADA2	ORPHA:124
HP:0000501	Glaucoma	285590	SH3PXD2B	OMIM:249420
HP:0000501	Glaucoma	389692	MAFA	OMIM:147630
HP:0000501	Glaucoma	6736	SRY	ORPHA:1772
HP:0000501	Glaucoma	169792	GLIS3	OMIM:610199
HP:0000501	Glaucoma	5831	PYCR1	OMIM:614438
HP:0000501	Glaucoma	5080	PAX6	ORPHA:708
HP:0000501	Glaucoma	2301	FOXE3	ORPHA:708
HP:0000501	Glaucoma	5308	PITX2	ORPHA:708
HP:0000501	Glaucoma	2296	FOXC1	ORPHA:708
HP:0000501	Glaucoma	81846	SBF2	ORPHA:99956
HP:0000501	Glaucoma	10535	RNASEH2A	ORPHA:51
HP:0000501	Glaucoma	84153	RNASEH2C	ORPHA:51
HP:0000501	Glaucoma	25939	SAMHD1	ORPHA:51
HP:0000501	Glaucoma	79621	RNASEH2B	ORPHA:51
HP:0000501	Glaucoma	103	ADAR	ORPHA:51
HP:0000501	Glaucoma	11277	TREX1	ORPHA:51
HP:0000501	Glaucoma	100147744	RNU7-1	ORPHA:51
HP:0000501	Glaucoma	134353	LSM11	ORPHA:51
HP:0000501	Glaucoma	64135	IFIH1	ORPHA:51
HP:0000501	Glaucoma	124583	CANT1	OMIM:251450
HP:0000501	Glaucoma	2316	FLNA	ORPHA:90652
HP:0000501	Glaucoma	7010	TEK	OMIM:600975
HP:0000501	Glaucoma	1545	CYP1B1	OMIM:231300
HP:0000501	Glaucoma	10133	OPTN	OMIM:137760
HP:0000501	Glaucoma	4909	NTF4	OMIM:613100
HP:0000501	Glaucoma	4010	LMX1B	ORPHA:2614
HP:0000501	Glaucoma	11232	POLG2	OMIM:619425
HP:0000501	Glaucoma	2263	FGFR2	ORPHA:2363
HP:0000501	Glaucoma	2261	FGFR3	ORPHA:2363
HP:0000501	Glaucoma	2255	FGF10	ORPHA:2363
HP:0000501	Glaucoma	134430	WDR36	OMIM:609887
HP:0000501	Glaucoma	2202	EFEMP1	ORPHA:98977
HP:0000501	Glaucoma	4653	MYOC	ORPHA:98977
HP:0000501	Glaucoma	136371	ASB10	OMIM:603383
HP:0000501	Glaucoma	4041	LRP5	ORPHA:2788
HP:0000501	Glaucoma	26022	TMEM98	OMIM:615972
HP:0000501	Glaucoma	80781	COL18A1	OMIM:618880
HP:0000502	Abnormal conjunctiva morphology	427	ASAH1	ORPHA:333
HP:0000502	Abnormal conjunctiva morphology	3861	KRT14	OMIM:125595
HP:0000502	Abnormal conjunctiva morphology	3851	KRT4	OMIM:193900
HP:0000502	Abnormal conjunctiva morphology	2517	FUCA1	OMIM:230000
HP:0000502	Abnormal conjunctiva morphology	55129	ANO10	ORPHA:284289
HP:0000502	Abnormal conjunctiva morphology	55129	ANO10	OMIM:613728
HP:0000502	Abnormal conjunctiva morphology	4668	NAGA	OMIM:609242
HP:0000502	Abnormal conjunctiva morphology	4126	MANBA	OMIM:248510
HP:0000502	Abnormal conjunctiva morphology	695	BTK	OMIM:300755
HP:0000502	Abnormal conjunctiva morphology	695	BTK	ORPHA:47
HP:0000502	Abnormal conjunctiva morphology	695	BTK	OMIM:307200
HP:0000502	Abnormal conjunctiva morphology	930	CD19	OMIM:613493
HP:0000502	Abnormal conjunctiva morphology	930	CD19	OMIM:240500
HP:0000502	Abnormal conjunctiva morphology	1643	DDB2	OMIM:278740
HP:0000502	Abnormal conjunctiva morphology	987	LRBA	OMIM:614700
HP:0000502	Abnormal conjunctiva morphology	7454	WAS	ORPHA:906
HP:0000502	Abnormal conjunctiva morphology	7456	WIPF1	ORPHA:906
HP:0000502	Abnormal conjunctiva morphology	1736	DKC1	OMIM:305000
HP:0000502	Abnormal conjunctiva morphology	1776	DNASE1L3	ORPHA:36412
HP:0000502	Abnormal conjunctiva morphology	2778	GNAS	ORPHA:94089
HP:0000502	Abnormal conjunctiva morphology	2778	GNAS	ORPHA:79443
HP:0000502	Abnormal conjunctiva morphology	2778	GNAS	ORPHA:79444
HP:0000502	Abnormal conjunctiva morphology	8675	STX16	ORPHA:94089
HP:0000502	Abnormal conjunctiva morphology	7507	XPA	OMIM:278700
HP:0000502	Abnormal conjunctiva morphology	2072	ERCC4	ORPHA:90321
HP:0000502	Abnormal conjunctiva morphology	79650	USB1	OMIM:604173
HP:0000502	Abnormal conjunctiva morphology	2067	ERCC1	ORPHA:90322
HP:0000502	Abnormal conjunctiva morphology	3507	IGHM	OMIM:601495
HP:0000502	Abnormal conjunctiva morphology	3507	IGHM	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	55630	SLC39A4	ORPHA:37
HP:0000502	Abnormal conjunctiva morphology	8676	STX11	OMIM:603552
HP:0000502	Abnormal conjunctiva morphology	51360	MBTPS2	OMIM:308800
HP:0000502	Abnormal conjunctiva morphology	51360	MBTPS2	ORPHA:2273
HP:0000502	Abnormal conjunctiva morphology	5896	RAG1	OMIM:601457
HP:0000502	Abnormal conjunctiva morphology	5897	RAG2	OMIM:601457
HP:0000502	Abnormal conjunctiva morphology	1294	COL7A1	OMIM:226600
HP:0000502	Abnormal conjunctiva morphology	4312	MMP1	OMIM:226600
HP:0000502	Abnormal conjunctiva morphology	162	AP1B1	OMIM:242150
HP:0000502	Abnormal conjunctiva morphology	5075	PAX1	OMIM:615560
HP:0000502	Abnormal conjunctiva morphology	974	CD79B	OMIM:612692
HP:0000502	Abnormal conjunctiva morphology	974	CD79B	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	5429	POLH	OMIM:278750
HP:0000502	Abnormal conjunctiva morphology	5340	PLG	OMIM:217090
HP:0000502	Abnormal conjunctiva morphology	7086	TKT	ORPHA:488618
HP:0000502	Abnormal conjunctiva morphology	29851	ICOS	OMIM:607594
HP:0000502	Abnormal conjunctiva morphology	29851	ICOS	OMIM:240500
HP:0000502	Abnormal conjunctiva morphology	65082	VPS33A	ORPHA:505248
HP:0000502	Abnormal conjunctiva morphology	10320	IKZF1	ORPHA:36426
HP:0000502	Abnormal conjunctiva morphology	23495	TNFRSF13B	OMIM:240500
HP:0000502	Abnormal conjunctiva morphology	115650	TNFRSF13C	OMIM:240500
HP:0000502	Abnormal conjunctiva morphology	1380	CR2	OMIM:240500
HP:0000502	Abnormal conjunctiva morphology	55612	FERMT1	ORPHA:2908
HP:0000502	Abnormal conjunctiva morphology	5692	PSMB4	OMIM:617591
HP:0000502	Abnormal conjunctiva morphology	5698	PSMB9	OMIM:617591
HP:0000502	Abnormal conjunctiva morphology	7037	TFRC	OMIM:616740
HP:0000502	Abnormal conjunctiva morphology	7994	KAT6A	OMIM:616268
HP:0000502	Abnormal conjunctiva morphology	686	BTD	OMIM:253260
HP:0000502	Abnormal conjunctiva morphology	686	BTD	ORPHA:79241
HP:0000502	Abnormal conjunctiva morphology	2077	ERF	ORPHA:207
HP:0000502	Abnormal conjunctiva morphology	2303	FOXC2	ORPHA:33001
HP:0000502	Abnormal conjunctiva morphology	2303	FOXC2	OMIM:153400
HP:0000502	Abnormal conjunctiva morphology	7508	XPC	OMIM:278720
HP:0000502	Abnormal conjunctiva morphology	54809	SAMD9	OMIM:610455
HP:0000502	Abnormal conjunctiva morphology	5696	PSMB8	OMIM:256040
HP:0000502	Abnormal conjunctiva morphology	3321	IGSF3	OMIM:149700
HP:0000502	Abnormal conjunctiva morphology	6929	TCF3	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	973	CD79A	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	3543	IGLL1	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	29760	BLNK	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	5295	PIK3R1	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	56262	LRRC8A	ORPHA:33110
HP:0000502	Abnormal conjunctiva morphology	94	ACVRL1	OMIM:600376
HP:0000502	Abnormal conjunctiva morphology	94	ACVRL1	ORPHA:774
HP:0000502	Abnormal conjunctiva morphology	2658	GDF2	ORPHA:774
HP:0000502	Abnormal conjunctiva morphology	4089	SMAD4	ORPHA:774
HP:0000502	Abnormal conjunctiva morphology	2022	ENG	ORPHA:774
HP:0000502	Abnormal conjunctiva morphology	2022	ENG	OMIM:187300
HP:0000502	Abnormal conjunctiva morphology	3978	LIG1	OMIM:619774
HP:0000502	Abnormal conjunctiva morphology	23328	SASH1	OMIM:618373
HP:0000502	Abnormal conjunctiva morphology	4683	NBN	OMIM:251260
HP:0000502	Abnormal conjunctiva morphology	5648	MASP1	OMIM:257920
HP:0000502	Abnormal conjunctiva morphology	472	ATM	OMIM:208900
HP:0000502	Abnormal conjunctiva morphology	23064	SETX	OMIM:606002
HP:0000502	Abnormal conjunctiva morphology	5190	PEX6	ORPHA:95433
HP:0000502	Abnormal conjunctiva morphology	165918	RNF168	ORPHA:420741
HP:0000502	Abnormal conjunctiva morphology	5111	PCNA	OMIM:615919
HP:0000502	Abnormal conjunctiva morphology	5476	CTSA	OMIM:256540
HP:0000502	Abnormal conjunctiva morphology	2717	GLA	ORPHA:324
HP:0000502	Abnormal conjunctiva morphology	2073	ERCC5	ORPHA:910
HP:0000502	Abnormal conjunctiva morphology	2776	GNAQ	ORPHA:3205
HP:0000502	Abnormal conjunctiva morphology	6720	SREBF1	OMIM:158310
HP:0000502	Abnormal conjunctiva morphology	2263	FGFR2	ORPHA:2363
HP:0000502	Abnormal conjunctiva morphology	2261	FGFR3	ORPHA:2363
HP:0000502	Abnormal conjunctiva morphology	2255	FGF10	ORPHA:2363
HP:0000502	Abnormal conjunctiva morphology	3141	HLCS	ORPHA:79242
HP:0000502	Abnormal conjunctiva morphology	7390	UROS	ORPHA:79277
HP:0000502	Abnormal conjunctiva morphology	2623	GATA1	ORPHA:79277
HP:0000502	Abnormal conjunctiva morphology	326	AIRE	OMIM:240300
HP:0000502	Abnormal conjunctiva morphology	7389	UROD	ORPHA:95159
HP:0000502	Abnormal conjunctiva morphology	6335	SCN9A	OMIM:133020
HP:0000502	Abnormal conjunctiva morphology	10804	GJB6	ORPHA:477
HP:0000502	Abnormal conjunctiva morphology	2706	GJB2	ORPHA:477
HP:0000502	Abnormal conjunctiva morphology	2706	GJB2	OMIM:148210
HP:0000502	Abnormal conjunctiva morphology	54941	RNF125	OMIM:616260
HP:0000502	Abnormal conjunctiva morphology	55699	IARS2	OMIM:616007
HP:0000502	Abnormal conjunctiva morphology	1161	ERCC8	ORPHA:90324
HP:0000502	Abnormal conjunctiva morphology	2074	ERCC6	ORPHA:90324
HP:0000502	Abnormal conjunctiva morphology	404672	GTF2H5	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	833	CARS1	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	2068	ERCC2	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	2068	ERCC2	OMIM:601675
HP:0000502	Abnormal conjunctiva morphology	2068	ERCC2	OMIM:278730
HP:0000502	Abnormal conjunctiva morphology	7737	RNF113A	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	136647	MPLKIP	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	136647	MPLKIP	OMIM:234050
HP:0000502	Abnormal conjunctiva morphology	6897	TARS1	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	2071	ERCC3	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	2961	GTF2E2	ORPHA:33364
HP:0000502	Abnormal conjunctiva morphology	1308	COL17A1	ORPHA:293381
HP:0000502	Abnormal conjunctiva morphology	4547	MTTP	ORPHA:14
HP:0000502	Abnormal conjunctiva morphology	2934	GSN	ORPHA:85448
HP:0000502	Abnormal conjunctiva morphology	22861	NLRP1	OMIM:617388
HP:0000502	Abnormal conjunctiva morphology	64127	NOD2	OMIM:617321
HP:0000502	Abnormal conjunctiva morphology	4081	MAB21L1	OMIM:618479
HP:0000502	Abnormal conjunctiva morphology	3930	LBR	ORPHA:779
HP:0000502	Abnormal conjunctiva morphology	2200	FBN1	OMIM:616914
HP:0000502	Abnormal conjunctiva morphology	165	AEBP1	ORPHA:536532
HP:0000502	Abnormal conjunctiva morphology	56244	BTNL2	ORPHA:797
HP:0000502	Abnormal conjunctiva morphology	3123	HLA-DRB1	ORPHA:797
HP:0000502	Abnormal conjunctiva morphology	149233	IL23R	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	6775	STAT4	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	3586	IL10	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	4210	MEFV	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	1230	CCR1	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	355	FAS	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	3592	IL12A	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	3106	HLA-B	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	7099	TLR4	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	3459	IFNGR1	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	720	C4A	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	337867	UBAC2	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	51752	ERAP1	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	8302	KLRC4	ORPHA:117
HP:0000502	Abnormal conjunctiva morphology	2260	FGFR1	OMIM:613001
HP:0000502	Abnormal conjunctiva morphology	3845	KRAS	ORPHA:3339
HP:0000502	Abnormal conjunctiva morphology	3845	KRAS	OMIM:600268
HP:0000502	Abnormal conjunctiva morphology	207	AKT1	OMIM:176920
HP:0000502	Abnormal conjunctiva morphology	5728	PTEN	ORPHA:2969
HP:0000502	Abnormal conjunctiva morphology	6299	SALL1	ORPHA:857
HP:0000502	Abnormal conjunctiva morphology	51339	DACT1	ORPHA:857
HP:0000502	Abnormal conjunctiva morphology	10992	SF3B2	OMIM:164210
HP:0000502	Abnormal conjunctiva morphology	8626	TP63	ORPHA:69085
HP:0000502	Abnormal conjunctiva morphology	2591	GALNT3	OMIM:211900
HP:0000502	Abnormal conjunctiva morphology	3162	HMOX1	OMIM:614034
HP:0000502	Abnormal conjunctiva morphology	444	ASPH	OMIM:601552
HP:0000502	Abnormal conjunctiva morphology	6472	SHMT2	OMIM:619121
HP:0000502	Abnormal conjunctiva morphology	4137	MAPT	ORPHA:240071
HP:0000502	Abnormal conjunctiva morphology	114548	NLRP3	OMIM:191900
HP:0000502	Abnormal conjunctiva morphology	114548	NLRP3	OMIM:148200
HP:0000502	Abnormal conjunctiva morphology	7132	TNFRSF1A	OMIM:142680
HP:0000502	Abnormal conjunctiva morphology	164	AP1G1	OMIM:619548
HP:0000502	Abnormal conjunctiva morphology	2271	FH	OMIM:606812
HP:0000502	Abnormal conjunctiva morphology	197131	UBR1	OMIM:243800
HP:0000502	Abnormal conjunctiva morphology	28234	SLCO1B3	ORPHA:3111
HP:0000502	Abnormal conjunctiva morphology	10599	SLCO1B1	ORPHA:3111
HP:0000502	Abnormal conjunctiva morphology	9780	PIEZO1	OMIM:194380
HP:0000502	Abnormal conjunctiva morphology	5314	PKHD1	ORPHA:53035
HP:0000502	Abnormal conjunctiva morphology	5277	PIGA	ORPHA:447
HP:0000502	Abnormal conjunctiva morphology	3909	LAMA3	OMIM:245660
HP:0000502	Abnormal conjunctiva morphology	3858	KRT10	ORPHA:312
HP:0000502	Abnormal conjunctiva morphology	3848	KRT1	ORPHA:312
HP:0000502	Abnormal conjunctiva morphology	10483	SEC23B	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	6390	SDHB	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	6392	SDHD	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	6391	SDHC	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	205717	USF3	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	5290	PIK3CA	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	100144748	KLLN	ORPHA:201
HP:0000502	Abnormal conjunctiva morphology	5308	PITX2	OMIM:180550
HP:0000503	Tortuosity of conjunctival vessels	2517	FUCA1	OMIM:230000
HP:0000503	Tortuosity of conjunctival vessels	55129	ANO10	ORPHA:284289
HP:0000503	Tortuosity of conjunctival vessels	55129	ANO10	OMIM:613728
HP:0000503	Tortuosity of conjunctival vessels	4668	NAGA	OMIM:609242
HP:0000503	Tortuosity of conjunctival vessels	4126	MANBA	OMIM:248510
HP:0000504	Abnormality of vision	29957	SLC25A24	ORPHA:2095
HP:0000504	Abnormality of vision	3265	HRAS	ORPHA:2612
HP:0000504	Abnormality of vision	4893	NRAS	ORPHA:2612
HP:0000504	Abnormality of vision	25885	POLR1A	ORPHA:1200
HP:0000504	Abnormality of vision	10907	TXNL4A	ORPHA:1200
HP:0000504	Abnormality of vision	4035	LRP1	OMIM:604093
HP:0000504	Abnormality of vision	2321	FLT1	ORPHA:275555
HP:0000504	Abnormality of vision	219736	STOX1	ORPHA:275555
HP:0000504	Abnormality of vision	10699	CORIN	ORPHA:275555
HP:0000504	Abnormality of vision	7528	YY1	ORPHA:97279
HP:0000504	Abnormality of vision	347733	TUBB2B	ORPHA:1766
HP:0000504	Abnormality of vision	7436	VLDLR	ORPHA:1766
HP:0000504	Abnormality of vision	124997	WDR81	ORPHA:1766
HP:0000504	Abnormality of vision	51761	ATP8A2	ORPHA:1766
HP:0000504	Abnormality of vision	767	CA8	ORPHA:1766
HP:0000504	Abnormality of vision	154881	KCTD7	ORPHA:263516
HP:0000504	Abnormality of vision	440138	ALG11	ORPHA:280071
HP:0000504	Abnormality of vision	9342	SNAP29	ORPHA:66631
HP:0000504	Abnormality of vision	6299	SALL1	ORPHA:857
HP:0000504	Abnormality of vision	51339	DACT1	ORPHA:857
HP:0000504	Abnormality of vision	2103	ESRRB	OMIM:608565
HP:0000504	Abnormality of vision	9723	SEMA3E	ORPHA:138
HP:0000504	Abnormality of vision	1908	EDN3	ORPHA:897
HP:0000504	Abnormality of vision	4286	MITF	ORPHA:897
HP:0000504	Abnormality of vision	1910	EDNRB	ORPHA:897
HP:0000504	Abnormality of vision	1500	CTNND1	ORPHA:1997
HP:0000504	Abnormality of vision	999	CDH1	ORPHA:1997
HP:0000504	Abnormality of vision	23314	SATB2	ORPHA:576283
HP:0000504	Abnormality of vision	5077	PAX3	ORPHA:894
HP:0000504	Abnormality of vision	4692	NDN	ORPHA:177904
HP:0000504	Abnormality of vision	4692	NDN	ORPHA:177901
HP:0000504	Abnormality of vision	54551	MAGEL2	ORPHA:177904
HP:0000504	Abnormality of vision	54551	MAGEL2	ORPHA:177901
HP:0000504	Abnormality of vision	1512	CTSH	ORPHA:2073
HP:0000504	Abnormality of vision	5032	P2RY11	ORPHA:2073
HP:0000504	Abnormality of vision	4340	MOG	ORPHA:2073
HP:0000504	Abnormality of vision	3060	HCRT	ORPHA:2073
HP:0000504	Abnormality of vision	22891	ZNF365	ORPHA:2073
HP:0000504	Abnormality of vision	7292	TNFSF4	ORPHA:2073
HP:0000504	Abnormality of vision	3977	LIFR	ORPHA:3206
HP:0000504	Abnormality of vision	92344	GORAB	ORPHA:2078
HP:0000504	Abnormality of vision	5831	PYCR1	ORPHA:2078
HP:0000504	Abnormality of vision	5604	MAP2K1	ORPHA:1340
HP:0000504	Abnormality of vision	5605	MAP2K2	ORPHA:1340
HP:0000504	Abnormality of vision	5663	PSEN1	ORPHA:1020
HP:0000504	Abnormality of vision	5664	PSEN2	ORPHA:1020
HP:0000504	Abnormality of vision	10452	TOMM40	ORPHA:1020
HP:0000504	Abnormality of vision	351	APP	ORPHA:1020
HP:0000504	Abnormality of vision	54209	TREM2	ORPHA:1020
HP:0000504	Abnormality of vision	10347	ABCA7	ORPHA:1020
HP:0000504	Abnormality of vision	6653	SORL1	ORPHA:1020
HP:0000504	Abnormality of vision	3081	HGD	ORPHA:56
HP:0000504	Abnormality of vision	9184	BUB3	ORPHA:1052
HP:0000504	Abnormality of vision	699	BUB1	ORPHA:1052
HP:0000504	Abnormality of vision	9702	CEP57	ORPHA:1052
HP:0000504	Abnormality of vision	9319	TRIP13	ORPHA:1052
HP:0000504	Abnormality of vision	701	BUB1B	ORPHA:1052
HP:0000504	Abnormality of vision	1806	DPYD	ORPHA:293948
HP:0000504	Abnormality of vision	84818	IL17RC	ORPHA:1334
HP:0000504	Abnormality of vision	64581	CLEC7A	ORPHA:1334
HP:0000504	Abnormality of vision	23765	IL17RA	ORPHA:1334
HP:0000504	Abnormality of vision	10758	TRAF3IP2	ORPHA:1334
HP:0000504	Abnormality of vision	112744	IL17F	ORPHA:1334
HP:0000504	Abnormality of vision	6304	SATB1	OMIM:619229
HP:0000504	Abnormality of vision	3737	KCNA2	ORPHA:442835
HP:0000504	Abnormality of vision	1759	DNM1	ORPHA:442835
HP:0000504	Abnormality of vision	8120	AP3B2	ORPHA:442835
HP:0000504	Abnormality of vision	523	ATP6V1A	ORPHA:442835
HP:0000504	Abnormality of vision	51343	FZR1	ORPHA:442835
HP:0000504	Abnormality of vision	22906	TRAK1	ORPHA:442835
HP:0000504	Abnormality of vision	2566	GABRG2	ORPHA:442835
HP:0000504	Abnormality of vision	1917	EEF1A2	ORPHA:442835
HP:0000504	Abnormality of vision	8831	SYNGAP1	ORPHA:442835
HP:0000504	Abnormality of vision	7532	YWHAG	ORPHA:442835
HP:0000504	Abnormality of vision	79876	UBA5	ORPHA:442835
HP:0000504	Abnormality of vision	2558	GABRA5	ORPHA:442835
HP:0000504	Abnormality of vision	10659	CELF2	ORPHA:442835
HP:0000504	Abnormality of vision	51741	WWOX	ORPHA:442835
HP:0000504	Abnormality of vision	23334	SZT2	ORPHA:442835
HP:0000504	Abnormality of vision	51412	ACTL6B	ORPHA:442835
HP:0000504	Abnormality of vision	348980	HCN1	ORPHA:442835
HP:0000504	Abnormality of vision	6506	SLC1A2	ORPHA:442835
HP:0000504	Abnormality of vision	2258	FGF13	ORPHA:442835
HP:0000504	Abnormality of vision	3745	KCNB1	ORPHA:442835
HP:0000504	Abnormality of vision	284111	SLC13A5	ORPHA:442835
HP:0000504	Abnormality of vision	25977	NECAP1	ORPHA:442835
HP:0000504	Abnormality of vision	16	AARS1	ORPHA:442835
HP:0000504	Abnormality of vision	22866	CNKSR2	ORPHA:442835
HP:0000504	Abnormality of vision	9568	GABBR2	ORPHA:442835
HP:0000504	Abnormality of vision	55152	DALRD3	ORPHA:442835
HP:0000504	Abnormality of vision	26999	CYFIP2	ORPHA:442835
HP:0000504	Abnormality of vision	23097	CDK19	ORPHA:442835
HP:0000504	Abnormality of vision	64801	ARV1	ORPHA:442835
HP:0000504	Abnormality of vision	56172	ANKH	ORPHA:1522
HP:0000504	Abnormality of vision	1024	CDK8	OMIM:618748
HP:0000504	Abnormality of vision	19	ABCA1	OMIM:205400
HP:0000504	Abnormality of vision	4292	MLH1	ORPHA:144
HP:0000504	Abnormality of vision	5395	PMS2	ORPHA:144
HP:0000504	Abnormality of vision	27030	MLH3	ORPHA:144
HP:0000504	Abnormality of vision	22909	FAN1	ORPHA:144
HP:0000504	Abnormality of vision	7048	TGFBR2	ORPHA:144
HP:0000504	Abnormality of vision	3845	KRAS	ORPHA:144
HP:0000504	Abnormality of vision	2956	MSH6	ORPHA:144
HP:0000504	Abnormality of vision	5378	PMS1	ORPHA:144
HP:0000504	Abnormality of vision	4436	MSH2	ORPHA:144
HP:0000504	Abnormality of vision	5322	PLA2G5	OMIM:228980
HP:0000504	Abnormality of vision	200205	IBA57	OMIM:616451
HP:0000504	Abnormality of vision	200205	IBA57	ORPHA:468661
HP:0000504	Abnormality of vision	200205	IBA57	OMIM:615330
HP:0000504	Abnormality of vision	657	BMPR1A	ORPHA:440437
HP:0000504	Abnormality of vision	6224	RPS20	ORPHA:440437
HP:0000504	Abnormality of vision	85015	USP45	OMIM:618513
HP:0000504	Abnormality of vision	6023	RMRP	ORPHA:175
HP:0000504	Abnormality of vision	284058	KANSL1	ORPHA:363958
HP:0000504	Abnormality of vision	284058	KANSL1	ORPHA:363965
HP:0000504	Abnormality of vision	535	ATP6V0A1	OMIM:619970
HP:0000504	Abnormality of vision	816	CAMK2B	OMIM:617799
HP:0000504	Abnormality of vision	815	CAMK2A	OMIM:617798
HP:0000504	Abnormality of vision	3423	IDS	ORPHA:217085
HP:0000504	Abnormality of vision	3423	IDS	ORPHA:217093
HP:0000504	Abnormality of vision	83480	PUS3	ORPHA:488627
HP:0000504	Abnormality of vision	80208	SPG11	ORPHA:2822
HP:0000504	Abnormality of vision	80208	SPG11	OMIM:604360
HP:0000504	Abnormality of vision	388962	BOLA3	OMIM:614299
HP:0000504	Abnormality of vision	7157	TP53	ORPHA:2807
HP:0000504	Abnormality of vision	150468	CKAP2L	OMIM:272440
HP:0000504	Abnormality of vision	5590	PRKCZ	ORPHA:1606
HP:0000504	Abnormality of vision	2563	GABRD	ORPHA:1606
HP:0000504	Abnormality of vision	23013	SPEN	ORPHA:1606
HP:0000504	Abnormality of vision	8510	MMP23B	ORPHA:1606
HP:0000504	Abnormality of vision	7798	LUZP1	ORPHA:1606
HP:0000504	Abnormality of vision	6497	SKI	ORPHA:1606
HP:0000504	Abnormality of vision	10630	PDPN	ORPHA:1606
HP:0000504	Abnormality of vision	3339	HSPG2	ORPHA:1606
HP:0000504	Abnormality of vision	3339	HSPG2	ORPHA:800
HP:0000504	Abnormality of vision	10277	UBE4B	ORPHA:1606
HP:0000504	Abnormality of vision	8514	KCNAB2	ORPHA:1606
HP:0000504	Abnormality of vision	63976	PRDM16	ORPHA:1606
HP:0000504	Abnormality of vision	54897	CASZ1	ORPHA:1606
HP:0000504	Abnormality of vision	4556	MT-TE	ORPHA:225
HP:0000504	Abnormality of vision	285362	SUMF1	ORPHA:585
HP:0000504	Abnormality of vision	8517	IKBKG	ORPHA:464
HP:0000504	Abnormality of vision	122961	ISCA2	OMIM:616370
HP:0000504	Abnormality of vision	8733	GPAA1	ORPHA:529665
HP:0000504	Abnormality of vision	8733	GPAA1	OMIM:617810
HP:0000504	Abnormality of vision	10991	SLC38A3	OMIM:619881
HP:0000504	Abnormality of vision	56947	MFF	ORPHA:485421
HP:0000504	Abnormality of vision	56947	MFF	OMIM:617086
HP:0000504	Abnormality of vision	2271	FH	OMIM:606812
HP:0000504	Abnormality of vision	9922	IQSEC1	OMIM:618687
HP:0000504	Abnormality of vision	85365	ALG2	OMIM:607906
HP:0000504	Abnormality of vision	125988	MICOS13	OMIM:618329
HP:0000504	Abnormality of vision	125988	MICOS13	ORPHA:67047
HP:0000504	Abnormality of vision	80173	IFT74	OMIM:617119
HP:0000504	Abnormality of vision	100151683	RNU4ATAC	ORPHA:1824
HP:0000504	Abnormality of vision	9896	FIG4	ORPHA:208441
HP:0000504	Abnormality of vision	8295	TRRAP	OMIM:618454
HP:0000504	Abnormality of vision	6857	SYT1	OMIM:618218
HP:0000504	Abnormality of vision	8803	SUCLA2	ORPHA:1933
HP:0000504	Abnormality of vision	10371	SEMA3A	ORPHA:478
HP:0000504	Abnormality of vision	81848	SPRY4	ORPHA:478
HP:0000504	Abnormality of vision	23767	FLRT3	ORPHA:478
HP:0000504	Abnormality of vision	128674	PROKR2	ORPHA:478
HP:0000504	Abnormality of vision	128674	PROKR2	ORPHA:3157
HP:0000504	Abnormality of vision	79625	NDNF	ORPHA:478
HP:0000504	Abnormality of vision	389549	FEZF1	ORPHA:478
HP:0000504	Abnormality of vision	1630	DCC	ORPHA:478
HP:0000504	Abnormality of vision	3730	ANOS1	ORPHA:478
HP:0000504	Abnormality of vision	54756	IL17RD	ORPHA:478
HP:0000504	Abnormality of vision	6663	SOX10	ORPHA:478
HP:0000504	Abnormality of vision	285025	CCDC141	ORPHA:478
HP:0000504	Abnormality of vision	60675	PROK2	ORPHA:478
HP:0000504	Abnormality of vision	55636	CHD7	ORPHA:478
HP:0000504	Abnormality of vision	1848	DUSP6	ORPHA:478
HP:0000504	Abnormality of vision	6870	TACR3	ORPHA:478
HP:0000504	Abnormality of vision	55717	WDR11	ORPHA:478
HP:0000504	Abnormality of vision	9394	HS6ST1	ORPHA:478
HP:0000504	Abnormality of vision	8820	HESX1	ORPHA:478
HP:0000504	Abnormality of vision	8820	HESX1	ORPHA:3157
HP:0000504	Abnormality of vision	8822	FGF17	ORPHA:478
HP:0000504	Abnormality of vision	9488	PIGB	OMIM:618580
HP:0000504	Abnormality of vision	54892	NCAPG2	OMIM:618460
HP:0000504	Abnormality of vision	10102	TSFM	OMIM:610505
HP:0000504	Abnormality of vision	29887	SNX10	ORPHA:667
HP:0000504	Abnormality of vision	10733	PLK4	OMIM:616171
HP:0000504	Abnormality of vision	10733	PLK4	ORPHA:2518
HP:0000504	Abnormality of vision	5515	PPP2CA	OMIM:618354
HP:0000504	Abnormality of vision	7084	TK2	ORPHA:254886
HP:0000504	Abnormality of vision	1436	CSF1R	OMIM:618476
HP:0000504	Abnormality of vision	4081	MAB21L1	OMIM:618479
HP:0000504	Abnormality of vision	1654	DDX3X	ORPHA:457260
HP:0000504	Abnormality of vision	55777	MBD5	OMIM:156200
HP:0000504	Abnormality of vision	5980	REV3L	ORPHA:570
HP:0000504	Abnormality of vision	23129	PLXND1	ORPHA:570
HP:0000504	Abnormality of vision	57551	TAOK1	OMIM:619575
HP:0000504	Abnormality of vision	112812	FDX2	OMIM:251900
HP:0000504	Abnormality of vision	26040	SETBP1	OMIM:616078
HP:0000504	Abnormality of vision	26040	SETBP1	ORPHA:798
HP:0000504	Abnormality of vision	84705	GTPBP3	OMIM:616198
HP:0000504	Abnormality of vision	84705	GTPBP3	ORPHA:444013
HP:0000504	Abnormality of vision	5144	PDE4D	ORPHA:439822
HP:0000504	Abnormality of vision	57187	THOC2	OMIM:300957
HP:0000504	Abnormality of vision	4810	NHS	ORPHA:627
HP:0000504	Abnormality of vision	29926	GMPPA	ORPHA:869
HP:0000504	Abnormality of vision	60684	TRAPPC11	ORPHA:869
HP:0000504	Abnormality of vision	8086	AAAS	ORPHA:869
HP:0000504	Abnormality of vision	5184	PEPD	ORPHA:742
HP:0000504	Abnormality of vision	84172	POLR1B	ORPHA:861
HP:0000504	Abnormality of vision	9533	POLR1C	ORPHA:861
HP:0000504	Abnormality of vision	51082	POLR1D	ORPHA:861
HP:0000504	Abnormality of vision	6949	TCOF1	ORPHA:861
HP:0000504	Abnormality of vision	374354	NHLRC2	OMIM:618278
HP:0000504	Abnormality of vision	29123	ANKRD11	ORPHA:261250
HP:0000504	Abnormality of vision	9573	GDF3	OMIM:613703
HP:0000504	Abnormality of vision	392255	GDF6	OMIM:613703
HP:0000504	Abnormality of vision	2799	GNS	OMIM:252940
HP:0000504	Abnormality of vision	55670	PEX26	ORPHA:772
HP:0000504	Abnormality of vision	55670	PEX26	OMIM:614873
HP:0000504	Abnormality of vision	55670	PEX26	ORPHA:44
HP:0000504	Abnormality of vision	55670	PEX26	ORPHA:912
HP:0000504	Abnormality of vision	5824	PEX19	ORPHA:772
HP:0000504	Abnormality of vision	5824	PEX19	ORPHA:44
HP:0000504	Abnormality of vision	5824	PEX19	ORPHA:912
HP:0000504	Abnormality of vision	5828	PEX2	ORPHA:772
HP:0000504	Abnormality of vision	5828	PEX2	OMIM:614867
HP:0000504	Abnormality of vision	5828	PEX2	ORPHA:44
HP:0000504	Abnormality of vision	5828	PEX2	ORPHA:912
HP:0000504	Abnormality of vision	8504	PEX3	ORPHA:772
HP:0000504	Abnormality of vision	8504	PEX3	ORPHA:44
HP:0000504	Abnormality of vision	8504	PEX3	ORPHA:912
HP:0000504	Abnormality of vision	9409	PEX16	ORPHA:772
HP:0000504	Abnormality of vision	9409	PEX16	OMIM:614877
HP:0000504	Abnormality of vision	9409	PEX16	ORPHA:44
HP:0000504	Abnormality of vision	9409	PEX16	ORPHA:912
HP:0000504	Abnormality of vision	8799	PEX11B	ORPHA:772
HP:0000504	Abnormality of vision	8799	PEX11B	ORPHA:44
HP:0000504	Abnormality of vision	8799	PEX11B	ORPHA:912
HP:0000504	Abnormality of vision	5830	PEX5	ORPHA:772
HP:0000504	Abnormality of vision	5830	PEX5	ORPHA:44
HP:0000504	Abnormality of vision	5830	PEX5	ORPHA:912
HP:0000504	Abnormality of vision	5189	PEX1	ORPHA:772
HP:0000504	Abnormality of vision	5189	PEX1	ORPHA:44
HP:0000504	Abnormality of vision	5189	PEX1	ORPHA:912
HP:0000504	Abnormality of vision	5193	PEX12	ORPHA:772
HP:0000504	Abnormality of vision	5193	PEX12	ORPHA:44
HP:0000504	Abnormality of vision	5193	PEX12	ORPHA:912
HP:0000504	Abnormality of vision	5194	PEX13	ORPHA:772
HP:0000504	Abnormality of vision	5194	PEX13	ORPHA:44
HP:0000504	Abnormality of vision	5194	PEX13	ORPHA:912
HP:0000504	Abnormality of vision	5195	PEX14	ORPHA:772
HP:0000504	Abnormality of vision	5195	PEX14	ORPHA:44
HP:0000504	Abnormality of vision	5195	PEX14	ORPHA:912
HP:0000504	Abnormality of vision	5192	PEX10	ORPHA:772
HP:0000504	Abnormality of vision	5192	PEX10	OMIM:614871
HP:0000504	Abnormality of vision	5192	PEX10	ORPHA:44
HP:0000504	Abnormality of vision	5192	PEX10	ORPHA:912
HP:0000504	Abnormality of vision	627	BDNF	ORPHA:893
HP:0000504	Abnormality of vision	7490	WT1	ORPHA:893
HP:0000504	Abnormality of vision	84295	PHF6	OMIM:301900
HP:0000504	Abnormality of vision	124454	EARS2	OMIM:614924
HP:0000504	Abnormality of vision	84842	HPDL	OMIM:619026
HP:0000504	Abnormality of vision	27161	AGO2	OMIM:619149
HP:0000504	Abnormality of vision	4921	DDR2	OMIM:618175
HP:0000504	Abnormality of vision	3708	ITPR1	OMIM:206700
HP:0000504	Abnormality of vision	6657	SOX2	ORPHA:3157
HP:0000504	Abnormality of vision	6658	SOX3	ORPHA:3157
HP:0000504	Abnormality of vision	5015	OTX2	ORPHA:3157
HP:0000504	Abnormality of vision	3476	IGBP1	OMIM:300472
HP:0000504	Abnormality of vision	27183	VPS4A	OMIM:619273
HP:0000504	Abnormality of vision	126326	GIPC3	OMIM:601869
HP:0000504	Abnormality of vision	8506	CNTNAP1	OMIM:618186
HP:0000504	Abnormality of vision	145173	B3GLCT	ORPHA:709
HP:0000504	Abnormality of vision	324	APC	ORPHA:99818
HP:0000504	Abnormality of vision	2896	GRN	OMIM:614706
HP:0000504	Abnormality of vision	10667	FARS2	OMIM:614946
HP:0000504	Abnormality of vision	51218	GLRX5	ORPHA:401866
HP:0000504	Abnormality of vision	51218	GLRX5	OMIM:616859
HP:0000504	Abnormality of vision	170302	ARX	OMIM:300004
HP:0000504	Abnormality of vision	63908	NAPB	OMIM:620033
HP:0000504	Abnormality of vision	57492	ARID1B	OMIM:135900
HP:0000504	Abnormality of vision	57492	ARID1B	ORPHA:1465
HP:0000504	Abnormality of vision	9739	SETD1A	OMIM:619056
HP:0000504	Abnormality of vision	8289	ARID1A	OMIM:614607
HP:0000504	Abnormality of vision	8289	ARID1A	ORPHA:1465
HP:0000504	Abnormality of vision	672	BRCA1	ORPHA:84
HP:0000504	Abnormality of vision	10459	MAD2L2	ORPHA:84
HP:0000504	Abnormality of vision	7516	XRCC2	ORPHA:84
HP:0000504	Abnormality of vision	29089	UBE2T	ORPHA:84
HP:0000504	Abnormality of vision	675	BRCA2	ORPHA:84
HP:0000504	Abnormality of vision	55120	FANCL	ORPHA:84
HP:0000504	Abnormality of vision	2177	FANCD2	ORPHA:84
HP:0000504	Abnormality of vision	2175	FANCA	ORPHA:84
HP:0000504	Abnormality of vision	2187	FANCB	ORPHA:84
HP:0000504	Abnormality of vision	2176	FANCC	ORPHA:84
HP:0000504	Abnormality of vision	2178	FANCE	ORPHA:84
HP:0000504	Abnormality of vision	2188	FANCF	ORPHA:84
HP:0000504	Abnormality of vision	2189	FANCG	ORPHA:84
HP:0000504	Abnormality of vision	5888	RAD51	ORPHA:84
HP:0000504	Abnormality of vision	5889	RAD51C	ORPHA:84
HP:0000504	Abnormality of vision	55159	RFWD3	ORPHA:84
HP:0000504	Abnormality of vision	83990	BRIP1	ORPHA:84
HP:0000504	Abnormality of vision	57697	FANCM	ORPHA:84
HP:0000504	Abnormality of vision	79728	PALB2	ORPHA:84
HP:0000504	Abnormality of vision	84464	SLX4	ORPHA:84
HP:0000504	Abnormality of vision	55215	FANCI	ORPHA:84
HP:0000504	Abnormality of vision	6597	SMARCA4	OMIM:614609
HP:0000504	Abnormality of vision	6597	SMARCA4	ORPHA:1465
HP:0000504	Abnormality of vision	7274	TTPA	ORPHA:96
HP:0000504	Abnormality of vision	9839	ZEB2	ORPHA:261552
HP:0000504	Abnormality of vision	6999	TDO2	OMIM:600627
HP:0000504	Abnormality of vision	388551	CEACAM16	OMIM:614614
HP:0000504	Abnormality of vision	10382	TUBB4A	OMIM:612438
HP:0000504	Abnormality of vision	330	BIRC3	ORPHA:52417
HP:0000504	Abnormality of vision	10892	MALT1	ORPHA:52417
HP:0000504	Abnormality of vision	27086	FOXP1	ORPHA:52417
HP:0000504	Abnormality of vision	3492	IGH	ORPHA:52417
HP:0000504	Abnormality of vision	8915	BCL10	ORPHA:52417
HP:0000504	Abnormality of vision	56006	SMG9	OMIM:616920
HP:0000504	Abnormality of vision	1593	CYP27A1	ORPHA:909
HP:0000504	Abnormality of vision	9255	AIMP1	OMIM:260600
HP:0000504	Abnormality of vision	6804	STX1A	ORPHA:904
HP:0000504	Abnormality of vision	7461	CLIP2	ORPHA:904
HP:0000504	Abnormality of vision	8468	FKBP6	ORPHA:904
HP:0000504	Abnormality of vision	5982	RFC2	ORPHA:904
HP:0000504	Abnormality of vision	2969	GTF2I	ORPHA:904
HP:0000504	Abnormality of vision	3984	LIMK1	ORPHA:904
HP:0000504	Abnormality of vision	9569	GTF2IRD1	ORPHA:904
HP:0000504	Abnormality of vision	155382	VPS37D	ORPHA:904
HP:0000504	Abnormality of vision	155368	METTL27	ORPHA:904
HP:0000504	Abnormality of vision	114049	BUD23	ORPHA:904
HP:0000504	Abnormality of vision	7458	EIF4H	ORPHA:904
HP:0000504	Abnormality of vision	84163	GTF2IRD2	ORPHA:904
HP:0000504	Abnormality of vision	9275	BCL7B	ORPHA:904
HP:0000504	Abnormality of vision	26608	TBL2	ORPHA:904
HP:0000504	Abnormality of vision	653361	NCF1	ORPHA:904
HP:0000504	Abnormality of vision	135886	TMEM270	ORPHA:904
HP:0000504	Abnormality of vision	9031	BAZ1B	ORPHA:904
HP:0000504	Abnormality of vision	90624	LYRM7	OMIM:615838
HP:0000504	Abnormality of vision	1493	CTLA4	ORPHA:900
HP:0000504	Abnormality of vision	3115	HLA-DPB1	ORPHA:900
HP:0000504	Abnormality of vision	5657	PRTN3	ORPHA:900
HP:0000504	Abnormality of vision	3113	HLA-DPA1	ORPHA:900
HP:0000504	Abnormality of vision	643226	GRXCR2	OMIM:615837
HP:0000504	Abnormality of vision	4094	MAF	ORPHA:1272
HP:0000504	Abnormality of vision	2934	GSN	ORPHA:85448
HP:0000504	Abnormality of vision	5591	PRKDC	OMIM:615966
HP:0000504	Abnormality of vision	63895	PIEZO2	ORPHA:1154
HP:0000504	Abnormality of vision	51128	SAR1B	ORPHA:71
HP:0000504	Abnormality of vision	760	CA2	OMIM:259730
HP:0000504	Abnormality of vision	8573	CASK	ORPHA:163937
HP:0000504	Abnormality of vision	3954	LETM1	OMIM:620089
HP:0000504	Abnormality of vision	117581	TWIST2	ORPHA:920
HP:0000504	Abnormality of vision	28962	OSTM1	OMIM:259720
HP:0000504	Abnormality of vision	9230	RAB11B	OMIM:617807
HP:0000504	Abnormality of vision	1545	CYP1B1	ORPHA:98977
HP:0000504	Abnormality of vision	4653	MYOC	ORPHA:98977
HP:0000504	Abnormality of vision	2335	FN1	ORPHA:93315
HP:0000504	Abnormality of vision	54585	LZTFL1	OMIM:615994
HP:0000504	Abnormality of vision	22845	DOLK	ORPHA:91131
HP:0000504	Abnormality of vision	9131	AIFM1	ORPHA:83629
HP:0000504	Abnormality of vision	10229	COQ7	OMIM:616733
HP:0000504	Abnormality of vision	10413	YAP1	ORPHA:1473
HP:0000504	Abnormality of vision	6659	SOX4	ORPHA:1465
HP:0000504	Abnormality of vision	5977	DPF2	ORPHA:1465
HP:0000504	Abnormality of vision	6601	SMARCC2	ORPHA:1465
HP:0000504	Abnormality of vision	6602	SMARCD1	ORPHA:1465
HP:0000504	Abnormality of vision	196528	ARID2	ORPHA:1465
HP:0000504	Abnormality of vision	6664	SOX11	ORPHA:1465
HP:0000504	Abnormality of vision	4915	NTRK2	OMIM:617830
HP:0000504	Abnormality of vision	23322	RPGRIP1L	ORPHA:1454
HP:0000504	Abnormality of vision	55644	OSGEP	OMIM:617729
HP:0000504	Abnormality of vision	57572	DOCK6	OMIM:614219
HP:0000504	Abnormality of vision	9842	PLEKHM1	ORPHA:210110
HP:0000504	Abnormality of vision	112858	TP53RK	OMIM:617730
HP:0000504	Abnormality of vision	51501	HIKESHI	OMIM:616881
HP:0000504	Abnormality of vision	1213	CLTC	OMIM:617854
HP:0000504	Abnormality of vision	4659	PPP1R12A	OMIM:618820
HP:0000504	Abnormality of vision	56270	WDR45B	OMIM:617977
HP:0000504	Abnormality of vision	4714	NDUFB8	ORPHA:70474
HP:0000504	Abnormality of vision	9997	SCO2	ORPHA:70474
HP:0000504	Abnormality of vision	6834	SURF1	ORPHA:70474
HP:0000504	Abnormality of vision	3931	LCAT	ORPHA:79292
HP:0000504	Abnormality of vision	54676	GTPBP2	OMIM:617988
HP:0000504	Abnormality of vision	3920	LAMP2	OMIM:300257
HP:0000504	Abnormality of vision	119559	SFXN4	OMIM:615578
HP:0000504	Abnormality of vision	8777	MPDZ	OMIM:615219
HP:0000504	Abnormality of vision	85378	TUBGCP6	ORPHA:2518
HP:0000504	Abnormality of vision	85378	TUBGCP6	OMIM:251270
HP:0000504	Abnormality of vision	51294	PCDH12	OMIM:251280
HP:0000504	Abnormality of vision	5430	POLR2A	OMIM:618603
HP:0000504	Abnormality of vision	23592	LEMD3	ORPHA:1306
HP:0000504	Abnormality of vision	6736	SRY	ORPHA:1772
HP:0000504	Abnormality of vision	406932	MIR140	OMIM:618618
HP:0000504	Abnormality of vision	55753	OGDHL	OMIM:619701
HP:0000504	Abnormality of vision	3735	KARS1	OMIM:619196
HP:0000504	Abnormality of vision	1121	CHM	OMIM:303100
HP:0000504	Abnormality of vision	1121	CHM	ORPHA:180
HP:0000504	Abnormality of vision	11277	TREX1	OMIM:192315
HP:0000504	Abnormality of vision	157657	CFAP418	OMIM:614500
HP:0000504	Abnormality of vision	11340	EXOSC8	ORPHA:2254
HP:0000504	Abnormality of vision	5393	EXOSC9	ORPHA:2254
HP:0000504	Abnormality of vision	23287	AGTPBP1	ORPHA:2254
HP:0000504	Abnormality of vision	51010	EXOSC3	ORPHA:2254
HP:0000504	Abnormality of vision	7443	VRK1	ORPHA:2254
HP:0000504	Abnormality of vision	91137	SLC25A46	ORPHA:2254
HP:0000504	Abnormality of vision	91137	SLC25A46	OMIM:616505
HP:0000504	Abnormality of vision	6247	RS1	OMIM:312700
HP:0000504	Abnormality of vision	1308	COL17A1	ORPHA:293381
HP:0000504	Abnormality of vision	4758	NEU1	OMIM:256550
HP:0000504	Abnormality of vision	4758	NEU1	ORPHA:812
HP:0000504	Abnormality of vision	54982	CLN6	OMIM:601780
HP:0000504	Abnormality of vision	10908	PNPLA6	OMIM:215470
HP:0000504	Abnormality of vision	4036	LRP2	OMIM:222448
HP:0000504	Abnormality of vision	4036	LRP2	ORPHA:2143
HP:0000504	Abnormality of vision	6452	SH3BP2	ORPHA:184
HP:0000504	Abnormality of vision	6017	RLBP1	ORPHA:52427
HP:0000504	Abnormality of vision	6017	RLBP1	ORPHA:85128
HP:0000504	Abnormality of vision	6010	RHO	ORPHA:52427
HP:0000504	Abnormality of vision	5959	RDH5	ORPHA:52427
HP:0000504	Abnormality of vision	9742	IFT140	OMIM:617781
HP:0000504	Abnormality of vision	478	ATP1A3	OMIM:601338
HP:0000504	Abnormality of vision	79587	CARS2	ORPHA:477774
HP:0000504	Abnormality of vision	92211	CDHR1	OMIM:613660
HP:0000504	Abnormality of vision	10461	MERTK	OMIM:613862
HP:0000504	Abnormality of vision	6314	ATXN7	OMIM:164500
HP:0000504	Abnormality of vision	348	APOE	OMIM:603075
HP:0000504	Abnormality of vision	83872	HMCN1	OMIM:603075
HP:0000504	Abnormality of vision	3078	CFHR1	OMIM:603075
HP:0000504	Abnormality of vision	10878	CFHR3	OMIM:603075
HP:0000504	Abnormality of vision	50964	SOST	OMIM:122860
HP:0000504	Abnormality of vision	4942	OAT	ORPHA:414
HP:0000504	Abnormality of vision	403	ARL3	OMIM:618161
HP:0000504	Abnormality of vision	5264	PHYH	ORPHA:773
HP:0000504	Abnormality of vision	5191	PEX7	ORPHA:773
HP:0000504	Abnormality of vision	6651	SON	ORPHA:500150
HP:0000504	Abnormality of vision	5631	PRPS1	OMIM:311070
HP:0000504	Abnormality of vision	64218	SEMA4A	OMIM:610283
HP:0000504	Abnormality of vision	5538	PPT1	OMIM:256730
HP:0000504	Abnormality of vision	79797	ZNF408	OMIM:616468
HP:0000504	Abnormality of vision	1203	CLN5	OMIM:256731
HP:0000504	Abnormality of vision	2058	EPRS1	OMIM:617951
HP:0000504	Abnormality of vision	8792	TNFRSF11A	OMIM:612301
HP:0000504	Abnormality of vision	1634	DCN	OMIM:610048
HP:0000504	Abnormality of vision	1201	CLN3	ORPHA:228346
HP:0000504	Abnormality of vision	1201	CLN3	OMIM:204200
HP:0000504	Abnormality of vision	2055	CLN8	ORPHA:1947
HP:0000504	Abnormality of vision	2055	CLN8	OMIM:600143
HP:0000504	Abnormality of vision	2978	GUCA1A	OMIM:602093
HP:0000504	Abnormality of vision	285440	CYP4V2	OMIM:210370
HP:0000504	Abnormality of vision	4547	MTTP	ORPHA:14
HP:0000504	Abnormality of vision	83636	C19orf12	OMIM:614298
HP:0000504	Abnormality of vision	51109	RDH11	ORPHA:436245
HP:0000504	Abnormality of vision	80781	COL18A1	ORPHA:1571
HP:0000504	Abnormality of vision	5062	PAK2	ORPHA:1571
HP:0000504	Abnormality of vision	57670	KIAA1549	OMIM:618613
HP:0000504	Abnormality of vision	5130	PCYT1A	OMIM:608940
HP:0000504	Abnormality of vision	26146	TRAF3IP1	ORPHA:3156
HP:0000504	Abnormality of vision	9657	IQCB1	ORPHA:3156
HP:0000504	Abnormality of vision	10806	SDCCAG8	ORPHA:3156
HP:0000504	Abnormality of vision	27130	INVS	ORPHA:3156
HP:0000504	Abnormality of vision	80184	CEP290	ORPHA:3156
HP:0000504	Abnormality of vision	4867	NPHP1	ORPHA:3156
HP:0000504	Abnormality of vision	261734	NPHP4	ORPHA:3156
HP:0000504	Abnormality of vision	57728	WDR19	ORPHA:3156
HP:0000504	Abnormality of vision	27031	NPHP3	ORPHA:3156
HP:0000504	Abnormality of vision	22897	CEP164	ORPHA:3156
HP:0000504	Abnormality of vision	4976	OPA1	OMIM:210000
HP:0000504	Abnormality of vision	4976	OPA1	ORPHA:1215
HP:0000504	Abnormality of vision	4763	NF1	ORPHA:97685
HP:0000504	Abnormality of vision	7045	TGFBI	OMIM:122200
HP:0000504	Abnormality of vision	4564	MT-TH	ORPHA:550
HP:0000504	Abnormality of vision	84627	ZNF469	OMIM:229200
HP:0000504	Abnormality of vision	84627	ZNF469	ORPHA:90354
HP:0000504	Abnormality of vision	79581	SLC52A2	OMIM:614707
HP:0000504	Abnormality of vision	79848	CSPP1	ORPHA:397715
HP:0000504	Abnormality of vision	9786	KIAA0586	ORPHA:397715
HP:0000504	Abnormality of vision	4312	MMP1	ORPHA:79408
HP:0000504	Abnormality of vision	1294	COL7A1	ORPHA:79408
HP:0000504	Abnormality of vision	1294	COL7A1	ORPHA:89842
HP:0000504	Abnormality of vision	79644	SRD5A3	OMIM:612379
HP:0000504	Abnormality of vision	79644	SRD5A3	ORPHA:324737
HP:0000504	Abnormality of vision	153241	CEP120	ORPHA:220493
HP:0000504	Abnormality of vision	54903	MKS1	ORPHA:220493
HP:0000504	Abnormality of vision	95681	CEP41	ORPHA:220493
HP:0000504	Abnormality of vision	10560	SLC19A2	ORPHA:49827
HP:0000504	Abnormality of vision	10560	SLC19A2	OMIM:249270
HP:0000504	Abnormality of vision	9512	PMPCB	OMIM:617954
HP:0000504	Abnormality of vision	10342	TFG	OMIM:615658
HP:0000504	Abnormality of vision	9326	ZNHIT3	ORPHA:2836
HP:0000504	Abnormality of vision	1509	CTSD	OMIM:610127
HP:0000504	Abnormality of vision	80216	ALPK1	OMIM:614979
HP:0000504	Abnormality of vision	4854	NOTCH3	OMIM:125310
HP:0000504	Abnormality of vision	2296	FOXC1	ORPHA:250923
HP:0000504	Abnormality of vision	6711	SPTBN1	OMIM:619475
HP:0000504	Abnormality of vision	2624	GATA2	ORPHA:3226
HP:0000504	Abnormality of vision	10319	LAMC3	OMIM:614115
HP:0000504	Abnormality of vision	11107	PRDM5	ORPHA:90354
HP:0000504	Abnormality of vision	7428	VHL	ORPHA:892
HP:0000504	Abnormality of vision	595	CCND1	ORPHA:892
HP:0000504	Abnormality of vision	3295	HSD17B4	OMIM:261515
HP:0000504	Abnormality of vision	63916	ELMO2	OMIM:606893
HP:0000504	Abnormality of vision	7957	EPM2A	OMIM:254780
HP:0000504	Abnormality of vision	378884	NHLRC1	OMIM:254780
HP:0000504	Abnormality of vision	7010	TEK	ORPHA:98976
HP:0000504	Abnormality of vision	1462	VCAN	OMIM:143200
HP:0000504	Abnormality of vision	10083	USH1C	ORPHA:231169
HP:0000504	Abnormality of vision	124590	USH1G	ORPHA:231169
HP:0000504	Abnormality of vision	83715	ESPN	ORPHA:231169
HP:0000504	Abnormality of vision	10518	CIB2	ORPHA:231169
HP:0000504	Abnormality of vision	4647	MYO7A	ORPHA:231169
HP:0000504	Abnormality of vision	4647	MYO7A	ORPHA:231178
HP:0000504	Abnormality of vision	65217	PCDH15	ORPHA:231169
HP:0000504	Abnormality of vision	79955	PDZD7	ORPHA:231178
HP:0000504	Abnormality of vision	25861	WHRN	ORPHA:231178
HP:0000504	Abnormality of vision	84059	ADGRV1	ORPHA:231178
HP:0000504	Abnormality of vision	686	BTD	ORPHA:79241
HP:0000504	Abnormality of vision	22901	ARSG	ORPHA:231183
HP:0000504	Abnormality of vision	4539	MT-ND4L	OMIM:535000
HP:0000504	Abnormality of vision	4539	MT-ND4L	ORPHA:104
HP:0000504	Abnormality of vision	4538	MT-ND4	OMIM:535000
HP:0000504	Abnormality of vision	4538	MT-ND4	ORPHA:104
HP:0000504	Abnormality of vision	1161	ERCC8	ORPHA:90324
HP:0000504	Abnormality of vision	1161	ERCC8	ORPHA:90321
HP:0000504	Abnormality of vision	1161	ERCC8	ORPHA:90322
HP:0000504	Abnormality of vision	2074	ERCC6	ORPHA:90324
HP:0000504	Abnormality of vision	2074	ERCC6	ORPHA:90321
HP:0000504	Abnormality of vision	2074	ERCC6	ORPHA:90322
HP:0000504	Abnormality of vision	7299	TYR	OMIM:203100
HP:0000504	Abnormality of vision	7299	TYR	OMIM:606952
HP:0000504	Abnormality of vision	7299	TYR	ORPHA:79431
HP:0000504	Abnormality of vision	7299	TYR	ORPHA:79434
HP:0000504	Abnormality of vision	4166	CHST6	ORPHA:98969
HP:0000504	Abnormality of vision	4166	CHST6	OMIM:217800
HP:0000504	Abnormality of vision	4047	LSS	ORPHA:2850
HP:0000504	Abnormality of vision	197	AHSG	ORPHA:2850
HP:0000504	Abnormality of vision	3694	ITGB6	ORPHA:2850
HP:0000504	Abnormality of vision	5111	PCNA	OMIM:615919
HP:0000504	Abnormality of vision	5111	PCNA	ORPHA:438134
HP:0000504	Abnormality of vision	2067	ERCC1	ORPHA:90322
HP:0000504	Abnormality of vision	162	AP1B1	OMIM:242150
HP:0000504	Abnormality of vision	1638	DCT	OMIM:619165
HP:0000504	Abnormality of vision	755	CFAP410	OMIM:617547
HP:0000504	Abnormality of vision	755	CFAP410	ORPHA:1872
HP:0000504	Abnormality of vision	26504	CNNM4	ORPHA:1873
HP:0000504	Abnormality of vision	26504	CNNM4	OMIM:217080
HP:0000504	Abnormality of vision	84839	RAX2	ORPHA:1872
HP:0000504	Abnormality of vision	84839	RAX2	OMIM:610381
HP:0000504	Abnormality of vision	57096	RPGRIP1	ORPHA:1872
HP:0000504	Abnormality of vision	57096	RPGRIP1	OMIM:608194
HP:0000504	Abnormality of vision	57096	RPGRIP1	OMIM:613826
HP:0000504	Abnormality of vision	8754	ADAM9	ORPHA:1872
HP:0000504	Abnormality of vision	22999	RIMS1	ORPHA:1872
HP:0000504	Abnormality of vision	128338	DRAM2	ORPHA:1872
HP:0000504	Abnormality of vision	128338	DRAM2	OMIM:616502
HP:0000504	Abnormality of vision	9094	UNC119	ORPHA:1872
HP:0000504	Abnormality of vision	282809	POC1B	ORPHA:1872
HP:0000504	Abnormality of vision	83394	PITPNM3	ORPHA:1872
HP:0000504	Abnormality of vision	83394	PITPNM3	OMIM:600977
HP:0000504	Abnormality of vision	23093	TTLL5	ORPHA:1872
HP:0000504	Abnormality of vision	83723	TLCD3B	ORPHA:1872
HP:0000504	Abnormality of vision	83723	TLCD3B	OMIM:619531
HP:0000504	Abnormality of vision	9364	RAB28	ORPHA:1872
HP:0000504	Abnormality of vision	224	ALDH3A2	ORPHA:816
HP:0000504	Abnormality of vision	224	ALDH3A2	OMIM:270200
HP:0000504	Abnormality of vision	169522	KCNV2	OMIM:610356
HP:0000504	Abnormality of vision	200576	PIKFYVE	OMIM:121850
HP:0000504	Abnormality of vision	63915	BLOC1S5	OMIM:619172
HP:0000504	Abnormality of vision	3105	HLA-A	ORPHA:179
HP:0000504	Abnormality of vision	4072	EPCAM	ORPHA:92050
HP:0000504	Abnormality of vision	105371045	PERCC1	ORPHA:92050
HP:0000504	Abnormality of vision	51360	MBTPS2	ORPHA:2273
HP:0000504	Abnormality of vision	51360	MBTPS2	OMIM:308800
HP:0000504	Abnormality of vision	51360	MBTPS2	OMIM:308205
HP:0000504	Abnormality of vision	283652	SLC24A5	OMIM:113750
HP:0000504	Abnormality of vision	283652	SLC24A5	ORPHA:370097
HP:0000504	Abnormality of vision	64834	ELOVL1	OMIM:618527
HP:0000504	Abnormality of vision	3850	KRT3	OMIM:618767
HP:0000504	Abnormality of vision	80326	WNT10A	OMIM:257980
HP:0000504	Abnormality of vision	80326	WNT10A	OMIM:150400
HP:0000504	Abnormality of vision	8546	AP3B1	OMIM:608233
HP:0000504	Abnormality of vision	1130	LYST	ORPHA:167
HP:0000504	Abnormality of vision	1130	LYST	OMIM:214500
HP:0000504	Abnormality of vision	4053	LTBP2	OMIM:613086
HP:0000504	Abnormality of vision	5333	PLCD1	ORPHA:2387
HP:0000504	Abnormality of vision	1474	CST6	OMIM:618535
HP:0000504	Abnormality of vision	10804	GJB6	ORPHA:477
HP:0000504	Abnormality of vision	10804	GJB6	OMIM:129500
HP:0000504	Abnormality of vision	3769	KCNJ13	OMIM:614186
HP:0000504	Abnormality of vision	3035	HARS1	OMIM:614504
HP:0000504	Abnormality of vision	1909	EDNRA	OMIM:157300
HP:0000504	Abnormality of vision	2099	ESR1	OMIM:157300
HP:0000504	Abnormality of vision	7124	TNF	OMIM:157300
HP:0000504	Abnormality of vision	3859	KRT12	OMIM:122100
HP:0000504	Abnormality of vision	326	AIRE	ORPHA:3453
HP:0000504	Abnormality of vision	57192	MCOLN1	ORPHA:578
HP:0000504	Abnormality of vision	57192	MCOLN1	OMIM:252650
HP:0000504	Abnormality of vision	340024	SLC6A19	ORPHA:2116
HP:0000504	Abnormality of vision	57393	CLTRN	ORPHA:2116
HP:0000504	Abnormality of vision	83938	LRMDA	OMIM:615179
HP:0000504	Abnormality of vision	11152	WDR45	OMIM:615179
HP:0000504	Abnormality of vision	84168	ANTXR1	OMIM:230740
HP:0000504	Abnormality of vision	84131	CEP78	OMIM:617236
HP:0000504	Abnormality of vision	404672	GTF2H5	ORPHA:33364
HP:0000504	Abnormality of vision	833	CARS1	ORPHA:33364
HP:0000504	Abnormality of vision	7737	RNF113A	ORPHA:33364
HP:0000504	Abnormality of vision	136647	MPLKIP	ORPHA:33364
HP:0000504	Abnormality of vision	6897	TARS1	ORPHA:33364
HP:0000504	Abnormality of vision	2961	GTF2E2	ORPHA:33364
HP:0000504	Abnormality of vision	2303	FOXC2	ORPHA:33001
HP:0000504	Abnormality of vision	2303	FOXC2	OMIM:153400
HP:0000504	Abnormality of vision	64127	NOD2	ORPHA:90340
HP:0000504	Abnormality of vision	5429	POLH	ORPHA:90342
HP:0000504	Abnormality of vision	5429	POLH	OMIM:278750
HP:0000504	Abnormality of vision	8943	AP3D1	ORPHA:54
HP:0000504	Abnormality of vision	8943	AP3D1	ORPHA:1000
HP:0000504	Abnormality of vision	2697	GJA1	ORPHA:1010
HP:0000504	Abnormality of vision	4157	MC1R	ORPHA:79432
HP:0000504	Abnormality of vision	4948	OCA2	ORPHA:79432
HP:0000504	Abnormality of vision	7507	XPA	ORPHA:910
HP:0000504	Abnormality of vision	7508	XPC	ORPHA:910
HP:0000504	Abnormality of vision	7508	XPC	OMIM:278720
HP:0000504	Abnormality of vision	1643	DDB2	ORPHA:910
HP:0000504	Abnormality of vision	1643	DDB2	OMIM:278740
HP:0000504	Abnormality of vision	51151	SLC45A2	ORPHA:79435
HP:0000504	Abnormality of vision	8626	TP63	OMIM:604292
HP:0000504	Abnormality of vision	8626	TP63	ORPHA:1896
HP:0000504	Abnormality of vision	55630	SLC39A4	ORPHA:37
HP:0000504	Abnormality of vision	167691	LCA5	ORPHA:364055
HP:0000504	Abnormality of vision	83552	MFRP	OMIM:611040
HP:0000504	Abnormality of vision	22861	NLRP1	OMIM:617388
HP:0000504	Abnormality of vision	84816	RTN4IP1	OMIM:616732
HP:0000504	Abnormality of vision	11190	CEP250	OMIM:618358
HP:0000504	Abnormality of vision	10320	IKZF1	ORPHA:36426
HP:0000504	Abnormality of vision	6768	ST14	OMIM:602400
HP:0000504	Abnormality of vision	6898	TAT	ORPHA:28378
HP:0000504	Abnormality of vision	9445	ITM2B	OMIM:616079
HP:0000504	Abnormality of vision	6785	ELOVL4	OMIM:614457
HP:0000504	Abnormality of vision	388531	RGS9BP	ORPHA:75374
HP:0000504	Abnormality of vision	100996717	NOTCH2NLC	OMIM:619473
HP:0000504	Abnormality of vision	4070	TACSTD2	OMIM:204870
HP:0000504	Abnormality of vision	5422	POLA1	OMIM:301220
HP:0000504	Abnormality of vision	2990	GUSB	OMIM:253220
HP:0000504	Abnormality of vision	10383	TUBB4B	OMIM:617879
HP:0000504	Abnormality of vision	8139	GAN	OMIM:256850
HP:0000504	Abnormality of vision	3030	HADHA	ORPHA:5
HP:0000504	Abnormality of vision	23155	CLCC1	OMIM:609913
HP:0000504	Abnormality of vision	9699	RIMS2	OMIM:618970
HP:0000504	Abnormality of vision	3852	KRT5	ORPHA:79396
HP:0000504	Abnormality of vision	3861	KRT14	ORPHA:79396
HP:0000504	Abnormality of vision	1497	CTNS	OMIM:219800
HP:0000504	Abnormality of vision	25915	NDUFAF3	ORPHA:2609
HP:0000504	Abnormality of vision	91942	NDUFAF2	ORPHA:2609
HP:0000504	Abnormality of vision	51300	TIMMDC1	ORPHA:2609
HP:0000504	Abnormality of vision	4716	NDUFB10	ORPHA:2609
HP:0000504	Abnormality of vision	4723	NDUFV1	ORPHA:2609
HP:0000504	Abnormality of vision	4723	NDUFV1	OMIM:618225
HP:0000504	Abnormality of vision	284184	NDUFAF8	ORPHA:2609
HP:0000504	Abnormality of vision	55863	TMEM126B	ORPHA:2609
HP:0000504	Abnormality of vision	4537	MT-ND3	ORPHA:2609
HP:0000504	Abnormality of vision	4729	NDUFV2	ORPHA:2609
HP:0000504	Abnormality of vision	4694	NDUFA1	ORPHA:2609
HP:0000504	Abnormality of vision	4720	NDUFS2	ORPHA:2609
HP:0000504	Abnormality of vision	4724	NDUFS4	ORPHA:2609
HP:0000504	Abnormality of vision	4724	NDUFS4	OMIM:252010
HP:0000504	Abnormality of vision	4726	NDUFS6	ORPHA:2609
HP:0000504	Abnormality of vision	4728	NDUFS8	ORPHA:2609
HP:0000504	Abnormality of vision	4722	NDUFS3	ORPHA:2609
HP:0000504	Abnormality of vision	79133	NDUFAF5	ORPHA:2609
HP:0000504	Abnormality of vision	126328	NDUFA11	ORPHA:2609
HP:0000504	Abnormality of vision	4709	NDUFB3	ORPHA:2609
HP:0000504	Abnormality of vision	80224	NUBPL	ORPHA:2609
HP:0000504	Abnormality of vision	29078	NDUFAF4	ORPHA:2609
HP:0000504	Abnormality of vision	374291	NDUFS7	ORPHA:2609
HP:0000504	Abnormality of vision	4700	NDUFA6	ORPHA:2609
HP:0000504	Abnormality of vision	4536	MT-ND2	ORPHA:2609
HP:0000504	Abnormality of vision	4719	NDUFS1	ORPHA:2609
HP:0000504	Abnormality of vision	4715	NDUFB9	ORPHA:2609
HP:0000504	Abnormality of vision	341640	FREM2	ORPHA:2052
HP:0000504	Abnormality of vision	80144	FRAS1	ORPHA:2052
HP:0000504	Abnormality of vision	80144	FRAS1	OMIM:219000
HP:0000504	Abnormality of vision	23426	GRIP1	ORPHA:2052
HP:0000504	Abnormality of vision	5351	PLOD1	OMIM:225400
HP:0000504	Abnormality of vision	2778	GNAS	OMIM:174800
HP:0000504	Abnormality of vision	51569	UFM1	OMIM:617899
HP:0000504	Abnormality of vision	10312	TCIRG1	OMIM:259700
HP:0000504	Abnormality of vision	54820	NDE1	ORPHA:2177
HP:0000504	Abnormality of vision	5309	PITX3	OMIM:610623
HP:0000504	Abnormality of vision	23126	POGZ	ORPHA:468678
HP:0000504	Abnormality of vision	3073	HEXA	OMIM:272800
HP:0000504	Abnormality of vision	6720	SREBF1	OMIM:158310
HP:0000504	Abnormality of vision	4552	MTRR	OMIM:236270
HP:0000504	Abnormality of vision	2581	GALC	ORPHA:206443
HP:0000504	Abnormality of vision	2581	GALC	ORPHA:206436
HP:0000504	Abnormality of vision	2581	GALC	OMIM:245200
HP:0000504	Abnormality of vision	57465	TBC1D24	OMIM:220500
HP:0000504	Abnormality of vision	3074	HEXB	OMIM:268800
HP:0000504	Abnormality of vision	9915	ARNT2	OMIM:615926
HP:0000504	Abnormality of vision	443	ASPA	ORPHA:314911
HP:0000504	Abnormality of vision	443	ASPA	OMIM:271900
HP:0000504	Abnormality of vision	2720	GLB1	ORPHA:79255
HP:0000504	Abnormality of vision	29954	POMT2	OMIM:236670
HP:0000504	Abnormality of vision	29954	POMT2	ORPHA:370959
HP:0000504	Abnormality of vision	9215	LARGE1	OMIM:236670
HP:0000504	Abnormality of vision	79147	FKRP	OMIM:236670
HP:0000504	Abnormality of vision	79147	FKRP	ORPHA:370959
HP:0000504	Abnormality of vision	10585	POMT1	OMIM:236670
HP:0000504	Abnormality of vision	10585	POMT1	ORPHA:370959
HP:0000504	Abnormality of vision	2218	FKTN	OMIM:236670
HP:0000504	Abnormality of vision	215	ABCD1	ORPHA:139396
HP:0000504	Abnormality of vision	215	ABCD1	OMIM:300100
HP:0000504	Abnormality of vision	5190	PEX6	ORPHA:95433
HP:0000504	Abnormality of vision	9361	LONP1	ORPHA:79243
HP:0000504	Abnormality of vision	5160	PDHA1	ORPHA:79243
HP:0000504	Abnormality of vision	8398	PLA2G6	ORPHA:35069
HP:0000504	Abnormality of vision	7840	ALMS1	OMIM:203800
HP:0000504	Abnormality of vision	7840	ALMS1	ORPHA:64
HP:0000504	Abnormality of vision	546	ATRX	ORPHA:847
HP:0000504	Abnormality of vision	3913	LAMB2	OMIM:609049
HP:0000504	Abnormality of vision	79583	TMEM231	ORPHA:2318
HP:0000504	Abnormality of vision	51524	TMEM138	ORPHA:2318
HP:0000504	Abnormality of vision	23090	ZNF423	ORPHA:2318
HP:0000504	Abnormality of vision	51259	TMEM216	ORPHA:2318
HP:0000504	Abnormality of vision	23746	AIPL1	OMIM:604393
HP:0000504	Abnormality of vision	7389	UROD	ORPHA:95159
HP:0000504	Abnormality of vision	60	ACTB	ORPHA:79107
HP:0000504	Abnormality of vision	1001	CDH3	OMIM:601553
HP:0000504	Abnormality of vision	1001	CDH3	ORPHA:1573
HP:0000504	Abnormality of vision	652	BMP4	OMIM:607932
HP:0000504	Abnormality of vision	114548	NLRP3	ORPHA:1451
HP:0000504	Abnormality of vision	5230	PGK1	ORPHA:713
HP:0000504	Abnormality of vision	4548	MTR	OMIM:250940
HP:0000504	Abnormality of vision	56244	BTNL2	ORPHA:797
HP:0000504	Abnormality of vision	28982	FLVCR1	OMIM:609033
HP:0000504	Abnormality of vision	81794	ADAMTS10	OMIM:277600
HP:0000504	Abnormality of vision	3028	HSD17B10	ORPHA:391428
HP:0000504	Abnormality of vision	8260	NAA10	OMIM:309800
HP:0000504	Abnormality of vision	54880	BCOR	OMIM:309800
HP:0000504	Abnormality of vision	3257	HPS1	OMIM:203300
HP:0000504	Abnormality of vision	1280	COL2A1	OMIM:108300
HP:0000504	Abnormality of vision	29925	GMPPB	ORPHA:370959
HP:0000504	Abnormality of vision	84197	POMK	ORPHA:370959
HP:0000504	Abnormality of vision	726	CAPN5	OMIM:193235
HP:0000504	Abnormality of vision	7078	TIMP3	OMIM:136900
HP:0000504	Abnormality of vision	7078	TIMP3	ORPHA:59181
HP:0000504	Abnormality of vision	11041	B4GAT1	OMIM:615287
HP:0000504	Abnormality of vision	2232	FDXR	ORPHA:543470
HP:0000504	Abnormality of vision	5627	PROS1	OMIM:614514
HP:0000504	Abnormality of vision	5340	PLG	OMIM:217090
HP:0000504	Abnormality of vision	2811	GP1BA	ORPHA:853
HP:0000504	Abnormality of vision	2812	GP1BB	ORPHA:853
HP:0000504	Abnormality of vision	3674	ITGA2B	ORPHA:853
HP:0000504	Abnormality of vision	3673	ITGA2	ORPHA:853
HP:0000504	Abnormality of vision	135228	CD109	ORPHA:853
HP:0000504	Abnormality of vision	3690	ITGB3	ORPHA:853
HP:0000504	Abnormality of vision	5296	PIK3R2	OMIM:603387
HP:0000504	Abnormality of vision	23554	TSPAN12	ORPHA:891
HP:0000504	Abnormality of vision	10084	PQBP1	OMIM:309500
HP:0000504	Abnormality of vision	80025	PANK2	ORPHA:216873
HP:0000504	Abnormality of vision	80025	PANK2	ORPHA:216866
HP:0000504	Abnormality of vision	6390	SDHB	ORPHA:3208
HP:0000504	Abnormality of vision	6392	SDHD	ORPHA:3208
HP:0000504	Abnormality of vision	644096	SDHAF1	ORPHA:3208
HP:0000504	Abnormality of vision	9928	KIF14	OMIM:617914
HP:0000504	Abnormality of vision	91147	TMEM67	OMIM:610688
HP:0000504	Abnormality of vision	5660	PSAP	ORPHA:206436
HP:0000504	Abnormality of vision	1967	EIF2B1	OMIM:603896
HP:0000504	Abnormality of vision	1186	CLCN7	ORPHA:53
HP:0000504	Abnormality of vision	148789	B3GALNT2	OMIM:615181
HP:0000504	Abnormality of vision	1387	CREBBP	OMIM:618332
HP:0000504	Abnormality of vision	57647	DHX37	OMIM:618731
HP:0000504	Abnormality of vision	80169	CTC1	OMIM:612199
HP:0000504	Abnormality of vision	2706	GJB2	OMIM:148210
HP:0000504	Abnormality of vision	7390	UROS	ORPHA:79277
HP:0000504	Abnormality of vision	2623	GATA1	ORPHA:79277
HP:0000504	Abnormality of vision	2760	GM2A	OMIM:272750
HP:0000504	Abnormality of vision	8600	TNFSF11	OMIM:259710
HP:0000504	Abnormality of vision	149233	IL23R	ORPHA:117
HP:0000504	Abnormality of vision	6775	STAT4	ORPHA:117
HP:0000504	Abnormality of vision	3586	IL10	ORPHA:117
HP:0000504	Abnormality of vision	4210	MEFV	ORPHA:117
HP:0000504	Abnormality of vision	1230	CCR1	ORPHA:117
HP:0000504	Abnormality of vision	355	FAS	ORPHA:117
HP:0000504	Abnormality of vision	3592	IL12A	ORPHA:117
HP:0000504	Abnormality of vision	101928376	IL12A-AS1	ORPHA:117
HP:0000504	Abnormality of vision	7099	TLR4	ORPHA:117
HP:0000504	Abnormality of vision	3459	IFNGR1	ORPHA:117
HP:0000504	Abnormality of vision	720	C4A	ORPHA:117
HP:0000504	Abnormality of vision	337867	UBAC2	ORPHA:117
HP:0000504	Abnormality of vision	51752	ERAP1	ORPHA:117
HP:0000504	Abnormality of vision	8302	KLRC4	ORPHA:117
HP:0000504	Abnormality of vision	6335	SCN9A	OMIM:133020
HP:0000504	Abnormality of vision	1621	DBH	ORPHA:230
HP:0000504	Abnormality of vision	335	APOA1	ORPHA:425
HP:0000504	Abnormality of vision	6559	SLC12A3	OMIM:263800
HP:0000504	Abnormality of vision	6559	SLC12A3	ORPHA:358
HP:0000504	Abnormality of vision	1188	CLCNKB	ORPHA:358
HP:0000504	Abnormality of vision	256471	MFSD8	OMIM:616170
HP:0000504	Abnormality of vision	50	ACO2	OMIM:616289
HP:0000504	Abnormality of vision	80207	OPA3	ORPHA:67036
HP:0000504	Abnormality of vision	64132	XYLT2	OMIM:605822
HP:0000504	Abnormality of vision	7291	TWIST1	ORPHA:794
HP:0000504	Abnormality of vision	2263	FGFR2	ORPHA:794
HP:0000504	Abnormality of vision	2263	FGFR2	ORPHA:93260
HP:0000504	Abnormality of vision	2263	FGFR2	ORPHA:207
HP:0000504	Abnormality of vision	2261	FGFR3	ORPHA:794
HP:0000504	Abnormality of vision	2261	FGFR3	OMIM:602849
HP:0000504	Abnormality of vision	6095	RORA	OMIM:618060
HP:0000504	Abnormality of vision	22827	PUF60	ORPHA:508498
HP:0000504	Abnormality of vision	1409	CRYAA	OMIM:604219
HP:0000504	Abnormality of vision	875	CBS	ORPHA:394
HP:0000504	Abnormality of vision	23394	ADNP	ORPHA:404448
HP:0000504	Abnormality of vision	9759	HDAC4	OMIM:619797
HP:0000504	Abnormality of vision	8473	OGT	OMIM:300997
HP:0000504	Abnormality of vision	2200	FBN1	ORPHA:1885
HP:0000504	Abnormality of vision	54507	ADAMTSL4	ORPHA:1885
HP:0000504	Abnormality of vision	6334	SCN8A	OMIM:614306
HP:0000504	Abnormality of vision	22800	RRAS2	OMIM:618624
HP:0000504	Abnormality of vision	3008	H1-4	OMIM:617537
HP:0000504	Abnormality of vision	10992	SF3B2	OMIM:164210
HP:0000504	Abnormality of vision	4693	NDP	ORPHA:91495
HP:0000504	Abnormality of vision	220202	ATOH7	ORPHA:91495
HP:0000504	Abnormality of vision	8322	FZD4	ORPHA:91495
HP:0000504	Abnormality of vision	118987	PDZD8	OMIM:620021
HP:0000504	Abnormality of vision	84570	COL25A1	ORPHA:91411
HP:0000504	Abnormality of vision	79776	ZFHX4	ORPHA:91411
HP:0000504	Abnormality of vision	27125	AFF4	ORPHA:444077
HP:0000504	Abnormality of vision	4784	NFIX	ORPHA:447980
HP:0000504	Abnormality of vision	80232	WDR26	ORPHA:513456
HP:0000504	Abnormality of vision	80232	WDR26	OMIM:617616
HP:0000504	Abnormality of vision	9578	CDC42BPB	OMIM:619841
HP:0000504	Abnormality of vision	26610	ELP4	OMIM:617141
HP:0000504	Abnormality of vision	51506	UFC1	OMIM:618076
HP:0000504	Abnormality of vision	10730	YME1L1	OMIM:617302
HP:0000504	Abnormality of vision	6595	SMARCA2	ORPHA:2728
HP:0000504	Abnormality of vision	3781	KCNN2	OMIM:619724
HP:0000504	Abnormality of vision	23431	AP4E1	OMIM:613744
HP:0000504	Abnormality of vision	23431	AP4E1	ORPHA:280763
HP:0000504	Abnormality of vision	4952	OCRL	ORPHA:534
HP:0000504	Abnormality of vision	1185	CLCN6	OMIM:619173
HP:0000504	Abnormality of vision	5080	PAX6	ORPHA:35737
HP:0000504	Abnormality of vision	57589	RIC1	OMIM:618761
HP:0000504	Abnormality of vision	10381	TUBB3	OMIM:600638
HP:0000504	Abnormality of vision	92255	LMBRD2	OMIM:619694
HP:0000504	Abnormality of vision	10352	WARS2	OMIM:617710
HP:0000504	Abnormality of vision	10352	WARS2	ORPHA:572798
HP:0000504	Abnormality of vision	81857	MED25	ORPHA:464738
HP:0000504	Abnormality of vision	708	C1QBP	OMIM:617713
HP:0000504	Abnormality of vision	2077	ERF	ORPHA:207
HP:0000504	Abnormality of vision	646960	PRSS56	OMIM:613517
HP:0000504	Abnormality of vision	128989	TANGO2	ORPHA:480864
HP:0000504	Abnormality of vision	54539	NDUFB11	ORPHA:2556
HP:0000504	Abnormality of vision	1349	COX7B	ORPHA:2556
HP:0000504	Abnormality of vision	3052	HCCS	ORPHA:2556
HP:0000504	Abnormality of vision	9241	NOG	OMIM:186500
HP:0000504	Abnormality of vision	1420	CRYGC	OMIM:604307
HP:0000504	Abnormality of vision	6899	TBX1	OMIM:188400
HP:0000504	Abnormality of vision	1301	COL11A1	ORPHA:560
HP:0000504	Abnormality of vision	1301	COL11A1	ORPHA:250984
HP:0000504	Abnormality of vision	164	AP1G1	OMIM:619467
HP:0000504	Abnormality of vision	54681	P4HTM	OMIM:618493
HP:0000504	Abnormality of vision	57178	ZMIZ1	OMIM:618659
HP:0000504	Abnormality of vision	23268	DNMBP	OMIM:618415
HP:0000504	Abnormality of vision	57167	SALL4	ORPHA:233
HP:0000504	Abnormality of vision	9935	MAFB	ORPHA:233
HP:0000504	Abnormality of vision	1123	CHN1	ORPHA:233
HP:0000504	Abnormality of vision	1123	CHN1	OMIM:604356
HP:0000504	Abnormality of vision	401	PHOX2A	OMIM:602078
HP:0000504	Abnormality of vision	7025	NR2F1	ORPHA:401777
HP:0000504	Abnormality of vision	84265	POLR3GL	OMIM:619234
HP:0000504	Abnormality of vision	23347	SMCHD1	ORPHA:2250
HP:0000504	Abnormality of vision	6608	SMO	OMIM:601707
HP:0000504	Abnormality of vision	3982	LIM2	OMIM:615277
HP:0000504	Abnormality of vision	10367	MICU1	OMIM:615673
HP:0000504	Abnormality of vision	8364	H4C3	OMIM:619758
HP:0000504	Abnormality of vision	1282	COL4A1	OMIM:175780
HP:0000504	Abnormality of vision	8085	KMT2D	OMIM:620186
HP:0000504	Abnormality of vision	1859	DYRK1A	ORPHA:464311
HP:0000504	Abnormality of vision	23556	PIGN	ORPHA:280633
HP:0000504	Abnormality of vision	23556	PIGN	OMIM:614080
HP:0000504	Abnormality of vision	55617	TASP1	OMIM:618950
HP:0000504	Abnormality of vision	7204	TRIO	ORPHA:476126
HP:0000504	Abnormality of vision	79803	HPS6	OMIM:614075
HP:0000504	Abnormality of vision	284217	LAMA1	OMIM:615960
HP:0000504	Abnormality of vision	284217	LAMA1	ORPHA:370022
HP:0000504	Abnormality of vision	3832	KIF11	ORPHA:2526
HP:0000504	Abnormality of vision	51085	MLXIPL	OMIM:194050
HP:0000504	Abnormality of vision	2006	ELN	OMIM:194050
HP:0000504	Abnormality of vision	668	FOXL2	ORPHA:572333
HP:0000504	Abnormality of vision	2658	GDF2	ORPHA:774
HP:0000504	Abnormality of vision	94	ACVRL1	ORPHA:774
HP:0000504	Abnormality of vision	4089	SMAD4	ORPHA:774
HP:0000504	Abnormality of vision	2022	ENG	ORPHA:774
HP:0000504	Abnormality of vision	51322	WAC	ORPHA:284169
HP:0000504	Abnormality of vision	10717	AP4B1	ORPHA:280763
HP:0000504	Abnormality of vision	9179	AP4M1	ORPHA:280763
HP:0000504	Abnormality of vision	11154	AP4S1	ORPHA:280763
HP:0000504	Abnormality of vision	5308	PITX2	OMIM:180550
HP:0000504	Abnormality of vision	7030	TFE3	OMIM:301066
HP:0000504	Abnormality of vision	4935	GPR143	OMIM:300814
HP:0000504	Abnormality of vision	55084	SOBP	OMIM:613671
HP:0000504	Abnormality of vision	57479	PRR12	OMIM:619539
HP:0000504	Abnormality of vision	7994	KAT6A	OMIM:616268
HP:0000504	Abnormality of vision	2316	FLNA	ORPHA:1826
HP:0000504	Abnormality of vision	6885	MAP3K7	ORPHA:1826
HP:0000504	Abnormality of vision	9469	CHST3	OMIM:245600
HP:0000504	Abnormality of vision	26229	B3GAT3	OMIM:245600
HP:0000504	Abnormality of vision	1804	DPP6	OMIM:616311
HP:0000504	Abnormality of vision	9181	ARHGEF2	OMIM:617523
HP:0000504	Abnormality of vision	1297	COL9A1	ORPHA:250984
HP:0000504	Abnormality of vision	1298	COL9A2	ORPHA:250984
HP:0000504	Abnormality of vision	1299	COL9A3	ORPHA:250984
HP:0000504	Abnormality of vision	84695	LOXL3	ORPHA:250984
HP:0000504	Abnormality of vision	1414	CRYBB1	OMIM:611544
HP:0000504	Abnormality of vision	26191	PTPN22	ORPHA:397
HP:0000504	Abnormality of vision	3106	HLA-B	ORPHA:397
HP:0000504	Abnormality of vision	3123	HLA-DRB1	ORPHA:397
HP:0000504	Abnormality of vision	3123	HLA-DRB1	OMIM:126200
HP:0000504	Abnormality of vision	8974	P4HA2	ORPHA:397
HP:0000504	Abnormality of vision	5274	SERPINI1	OMIM:604218
HP:0000504	Abnormality of vision	353116	RILPL1	OMIM:619790
HP:0000504	Abnormality of vision	4287	ATXN3	OMIM:109150
HP:0000504	Abnormality of vision	4287	ATXN3	ORPHA:276238
HP:0000504	Abnormality of vision	4287	ATXN3	ORPHA:276244
HP:0000504	Abnormality of vision	4287	ATXN3	ORPHA:276241
HP:0000504	Abnormality of vision	4137	MAPT	OMIM:601104
HP:0000504	Abnormality of vision	4791	NFKB2	ORPHA:293978
HP:0000504	Abnormality of vision	9698	PUM1	OMIM:617931
HP:0000504	Abnormality of vision	5428	POLG	OMIM:258450
HP:0000504	Abnormality of vision	5428	POLG	OMIM:157640
HP:0000504	Abnormality of vision	5428	POLG	OMIM:603041
HP:0000504	Abnormality of vision	6507	SLC1A3	ORPHA:209967
HP:0000504	Abnormality of vision	6507	SLC1A3	OMIM:612656
HP:0000504	Abnormality of vision	6712	SPTBN2	ORPHA:352403
HP:0000504	Abnormality of vision	4568	MT-TL2	ORPHA:663
HP:0000504	Abnormality of vision	4567	MT-TL1	ORPHA:663
HP:0000504	Abnormality of vision	4570	MT-TN	ORPHA:663
HP:0000504	Abnormality of vision	4574	MT-TS1	ORPHA:663
HP:0000504	Abnormality of vision	4221	MEN1	ORPHA:2965
HP:0000504	Abnormality of vision	64072	CDH23	ORPHA:2965
HP:0000504	Abnormality of vision	64072	CDH23	ORPHA:91347
HP:0000504	Abnormality of vision	9049	AIP	ORPHA:2965
HP:0000504	Abnormality of vision	3736	KCNA1	ORPHA:37612
HP:0000504	Abnormality of vision	4884	NPTX1	OMIM:620158
HP:0000504	Abnormality of vision	7040	TGFB1	OMIM:131300
HP:0000504	Abnormality of vision	55157	DARS2	ORPHA:137898
HP:0000504	Abnormality of vision	2629	GBA1	ORPHA:411602
HP:0000504	Abnormality of vision	23317	DNAJC13	ORPHA:411602
HP:0000504	Abnormality of vision	1981	EIF4G1	ORPHA:411602
HP:0000504	Abnormality of vision	55737	VPS35	ORPHA:411602
HP:0000504	Abnormality of vision	120892	LRRK2	ORPHA:411602
HP:0000504	Abnormality of vision	120892	LRRK2	ORPHA:2828
HP:0000504	Abnormality of vision	26058	GIGYF2	ORPHA:411602
HP:0000504	Abnormality of vision	6622	SNCA	ORPHA:411602
HP:0000504	Abnormality of vision	6622	SNCA	ORPHA:2828
HP:0000504	Abnormality of vision	6513	SLC2A1	OMIM:601042
HP:0000504	Abnormality of vision	6513	SLC2A1	ORPHA:53583
HP:0000504	Abnormality of vision	5621	PRNP	OMIM:600072
HP:0000504	Abnormality of vision	7276	TTR	OMIM:105210
HP:0000504	Abnormality of vision	7156	TOP3A	OMIM:618098
HP:0000504	Abnormality of vision	1200	TPP1	OMIM:609270
HP:0000504	Abnormality of vision	1200	TPP1	ORPHA:284324
HP:0000504	Abnormality of vision	54832	VPS13C	ORPHA:2828
HP:0000504	Abnormality of vision	11315	PARK7	ORPHA:2828
HP:0000504	Abnormality of vision	7345	UCHL1	ORPHA:2828
HP:0000504	Abnormality of vision	27429	HTRA2	ORPHA:2828
HP:0000504	Abnormality of vision	9829	DNAJC6	ORPHA:2828
HP:0000504	Abnormality of vision	5420	PODXL	ORPHA:2828
HP:0000504	Abnormality of vision	65018	PINK1	ORPHA:2828
HP:0000504	Abnormality of vision	8867	SYNJ1	ORPHA:2828
HP:0000504	Abnormality of vision	5071	PRKN	ORPHA:2828
HP:0000504	Abnormality of vision	10528	NOP56	ORPHA:276198
HP:0000504	Abnormality of vision	4644	MYO5A	ORPHA:79476
HP:0000504	Abnormality of vision	2259	FGF14	OMIM:620174
HP:0000504	Abnormality of vision	3752	KCND3	ORPHA:98772
HP:0000504	Abnormality of vision	339453	TMEM240	ORPHA:98773
HP:0000504	Abnormality of vision	54902	TTC19	OMIM:615157
HP:0000504	Abnormality of vision	1890	TYMP	OMIM:603041
HP:0000504	Abnormality of vision	6329	SCN4A	ORPHA:99734
HP:0000504	Abnormality of vision	6329	SCN4A	ORPHA:98913
HP:0000504	Abnormality of vision	92667	MGME1	ORPHA:352447
HP:0000504	Abnormality of vision	6011	GRK1	ORPHA:75382
HP:0000504	Abnormality of vision	6295	SAG	ORPHA:75382
HP:0000504	Abnormality of vision	4665	NAB2	ORPHA:2126
HP:0000504	Abnormality of vision	6778	STAT6	ORPHA:2126
HP:0000504	Abnormality of vision	219285	SAMD9L	OMIM:619806
HP:0000504	Abnormality of vision	2068	ERCC2	ORPHA:220295
HP:0000504	Abnormality of vision	2073	ERCC5	ORPHA:220295
HP:0000504	Abnormality of vision	2072	ERCC4	ORPHA:220295
HP:0000504	Abnormality of vision	2071	ERCC3	ORPHA:220295
HP:0000504	Abnormality of vision	60482	SLC5A7	ORPHA:98914
HP:0000504	Abnormality of vision	4649	MYO9A	ORPHA:98914
HP:0000504	Abnormality of vision	1305	COL13A1	ORPHA:98914
HP:0000504	Abnormality of vision	1305	COL13A1	ORPHA:98913
HP:0000504	Abnormality of vision	1103	CHAT	ORPHA:98914
HP:0000504	Abnormality of vision	6576	SLC25A1	ORPHA:98914
HP:0000504	Abnormality of vision	6843	VAMP1	ORPHA:98914
HP:0000504	Abnormality of vision	375790	AGRN	ORPHA:98914
HP:0000504	Abnormality of vision	375790	AGRN	ORPHA:98913
HP:0000504	Abnormality of vision	127833	SYT2	ORPHA:98914
HP:0000504	Abnormality of vision	6572	SLC18A3	ORPHA:98914
HP:0000504	Abnormality of vision	6616	SNAP25	ORPHA:98914
HP:0000504	Abnormality of vision	1134	CHRNA1	ORPHA:98913
HP:0000504	Abnormality of vision	4038	LRP4	ORPHA:98913
HP:0000504	Abnormality of vision	1140	CHRNB1	ORPHA:98913
HP:0000504	Abnormality of vision	1144	CHRND	ORPHA:98913
HP:0000504	Abnormality of vision	1145	CHRNE	ORPHA:98913
HP:0000504	Abnormality of vision	4593	MUSK	ORPHA:98913
HP:0000504	Abnormality of vision	5913	RAPSN	ORPHA:98913
HP:0000504	Abnormality of vision	221264	AK9	ORPHA:98913
HP:0000504	Abnormality of vision	285489	DOK7	ORPHA:98913
HP:0000504	Abnormality of vision	55129	ANO10	ORPHA:284289
HP:0000504	Abnormality of vision	8913	CACNA1G	ORPHA:458803
HP:0000504	Abnormality of vision	8913	CACNA1G	OMIM:616795
HP:0000504	Abnormality of vision	6389	SDHA	OMIM:619259
HP:0000504	Abnormality of vision	22943	DKK1	ORPHA:268882
HP:0000504	Abnormality of vision	54936	ADPRS	OMIM:618170
HP:0000504	Abnormality of vision	4771	NF2	ORPHA:637
HP:0000504	Abnormality of vision	3119	HLA-DQB1	OMIM:126200
HP:0000504	Abnormality of vision	5133	PDCD1	OMIM:126200
HP:0000504	Abnormality of vision	4598	MVK	OMIM:260920
HP:0000504	Abnormality of vision	2677	GGCX	ORPHA:436274
HP:0000504	Abnormality of vision	80270	HSD3B7	ORPHA:79301
HP:0000504	Abnormality of vision	8882	ZPR1	OMIM:619321
HP:0000504	Abnormality of vision	1798	DPAGT1	ORPHA:86309
HP:0000504	Abnormality of vision	25839	COG4	OMIM:618150
HP:0000504	Abnormality of vision	23404	EXOSC2	OMIM:617763
HP:0000504	Abnormality of vision	585	BBS4	OMIM:615982
HP:0000504	Abnormality of vision	6786	STIM1	OMIM:160565
HP:0000504	Abnormality of vision	7066	THPO	ORPHA:71493
HP:0000504	Abnormality of vision	4488	MSX2	OMIM:604757
HP:0000504	Abnormality of vision	84196	USP48	ORPHA:96253
HP:0000504	Abnormality of vision	9101	USP8	ORPHA:96253
HP:0000504	Abnormality of vision	2908	NR3C1	ORPHA:96253
HP:0000504	Abnormality of vision	1181	CLCN2	OMIM:615651
HP:0000504	Abnormality of vision	55901	THSD1	ORPHA:231160
HP:0000504	Abnormality of vision	7049	TGFBR3	ORPHA:231160
HP:0000504	Abnormality of vision	1281	COL3A1	ORPHA:231160
HP:0000504	Abnormality of vision	83854	ANGPTL6	ORPHA:231160
HP:0000504	Abnormality of vision	9371	KIF3B	OMIM:618955
HP:0000504	Abnormality of vision	8565	YARS1	OMIM:619418
HP:0000504	Abnormality of vision	343035	RD3	ORPHA:65
HP:0000504	Abnormality of vision	10195	ALG3	OMIM:601110
HP:0000504	Abnormality of vision	6809	STX3	OMIM:619446
HP:0000504	Abnormality of vision	22880	MORC2	ORPHA:466768
HP:0000504	Abnormality of vision	4646	MYO6	OMIM:607821
HP:0000504	Abnormality of vision	83696	TRAPPC9	ORPHA:352530
HP:0000504	Abnormality of vision	10749	KIF1C	ORPHA:397946
HP:0000504	Abnormality of vision	10749	KIF1C	OMIM:611302
HP:0000504	Abnormality of vision	4099	MAG	OMIM:616680
HP:0000504	Abnormality of vision	8294	H4C9	OMIM:619951
HP:0000504	Abnormality of vision	51102	MECR	ORPHA:508093
HP:0000504	Abnormality of vision	51102	MECR	OMIM:617282
HP:0000504	Abnormality of vision	3560	IL2RB	ORPHA:85410
HP:0000504	Abnormality of vision	79722	ANKRD55	ORPHA:85410
HP:0000504	Abnormality of vision	919	CD247	ORPHA:85410
HP:0000504	Abnormality of vision	3559	IL2RA	ORPHA:85410
HP:0000504	Abnormality of vision	5771	PTPN2	ORPHA:85410
HP:0000504	Abnormality of vision	123263	MTFMT	OMIM:614947
HP:0000504	Abnormality of vision	146167	SLC38A8	OMIM:609218
HP:0000504	Abnormality of vision	83959	SLC4A11	ORPHA:293603
HP:0000504	Abnormality of vision	83959	SLC4A11	OMIM:217400
HP:0000504	Abnormality of vision	83959	SLC4A11	ORPHA:98974
HP:0000504	Abnormality of vision	8566	PDXK	OMIM:618511
HP:0000504	Abnormality of vision	27229	TUBGCP4	OMIM:616335
HP:0000504	Abnormality of vision	410	ARSA	ORPHA:309271
HP:0000504	Abnormality of vision	410	ARSA	ORPHA:309263
HP:0000504	Abnormality of vision	410	ARSA	ORPHA:309256
HP:0000504	Abnormality of vision	1738	DLD	ORPHA:2394
HP:0000504	Abnormality of vision	7123	CLEC3B	OMIM:619977
HP:0000504	Abnormality of vision	79140	CCDC28B	OMIM:209900
HP:0000504	Abnormality of vision	54675	CRLS1	OMIM:620167
HP:0000504	Abnormality of vision	90167	FRMD7	OMIM:310700
HP:0000504	Abnormality of vision	157680	VPS13B	OMIM:216550
HP:0000504	Abnormality of vision	55714	TENM3	OMIM:615145
HP:0000504	Abnormality of vision	5833	PCYT2	OMIM:618770
HP:0000504	Abnormality of vision	7466	WFS1	OMIM:614296
HP:0000504	Abnormality of vision	246243	RNASEH1	OMIM:616479
HP:0000504	Abnormality of vision	5950	RBP4	OMIM:615147
HP:0000504	Abnormality of vision	2301	FOXE3	OMIM:610256
HP:0000504	Abnormality of vision	2201	FBN2	OMIM:616118
HP:0000504	Abnormality of vision	2395	FXN	ORPHA:95
HP:0000504	Abnormality of vision	2395	FXN	OMIM:229300
HP:0000504	Abnormality of vision	11081	KERA	OMIM:217300
HP:0000504	Abnormality of vision	91574	MTRFR	OMIM:615035
HP:0000504	Abnormality of vision	91574	MTRFR	ORPHA:320375
HP:0000504	Abnormality of vision	23503	ZFYVE26	OMIM:270700
HP:0000504	Abnormality of vision	402	ARL2	OMIM:619082
HP:0000504	Abnormality of vision	89781	HPS4	OMIM:614073
HP:0000504	Abnormality of vision	11234	HPS5	OMIM:614074
HP:0000504	Abnormality of vision	84343	HPS3	OMIM:614072
HP:0000504	Abnormality of vision	388552	BLOC1S3	OMIM:614077
HP:0000504	Abnormality of vision	84062	DTNBP1	OMIM:614076
HP:0000504	Abnormality of vision	11261	CHP1	OMIM:618438
HP:0000504	Abnormality of vision	6742	SSBP1	OMIM:165510
HP:0000504	Abnormality of vision	7837	PXDN	OMIM:269400
HP:0000504	Abnormality of vision	7867	MAPKAPK3	OMIM:617111
HP:0000504	Abnormality of vision	26022	TMEM98	OMIM:615972
HP:0000504	Abnormality of vision	129880	BBS5	OMIM:615983
HP:0000504	Abnormality of vision	113457	TUBA3D	OMIM:617928
HP:0000504	Abnormality of vision	8905	AP1S2	OMIM:304340
HP:0000504	Abnormality of vision	123624	AGBL1	ORPHA:98974
HP:0000504	Abnormality of vision	6925	TCF4	ORPHA:98974
HP:0000504	Abnormality of vision	406987	MIR204	OMIM:616722
HP:0000504	Abnormality of vision	406960	MIR184	OMIM:614303
HP:0000504	Abnormality of vision	54765	TRIM44	OMIM:617142
HP:0000504	Abnormality of vision	91869	RFT1	OMIM:612015
HP:0000504	Abnormality of vision	267010	RNU12	OMIM:620208
HP:0000504	Abnormality of vision	91851	CHRDL1	OMIM:309300
HP:0000504	Abnormality of vision	444	ASPH	OMIM:601552
HP:0000504	Abnormality of vision	201973	PRIMPOL	OMIM:615420
HP:0000504	Abnormality of vision	6297	SALL2	OMIM:216820
HP:0000504	Abnormality of vision	64840	PORCN	OMIM:305600
HP:0000504	Abnormality of vision	87178	PNPT1	ORPHA:101111
HP:0000504	Abnormality of vision	87178	PNPT1	OMIM:608703
HP:0000504	Abnormality of vision	57498	KIDINS220	OMIM:617296
HP:0000504	Abnormality of vision	55213	RCBTB1	OMIM:617175
HP:0000504	Abnormality of vision	55229	PANK4	OMIM:619593
HP:0000504	Abnormality of vision	4043	LRPAP1	OMIM:615431
HP:0000504	Abnormality of vision	998	CDC42	ORPHA:487796
HP:0000504	Abnormality of vision	8936	WASF1	OMIM:618707
HP:0000504	Abnormality of vision	1495	CTNNA1	OMIM:608970
HP:0000504	Abnormality of vision	10682	EBP	OMIM:300960
HP:0000504	Abnormality of vision	64131	XYLT1	OMIM:264800
HP:0000504	Abnormality of vision	80210	ARMC9	OMIM:617622
HP:0000504	Abnormality of vision	23516	SLC39A14	OMIM:144755
HP:0000504	Abnormality of vision	4140	MARK3	OMIM:618283
HP:0000504	Abnormality of vision	112752	IFT43	OMIM:617871
HP:0000504	Abnormality of vision	387	RHOA	OMIM:618727
HP:0000504	Abnormality of vision	6522	SLC4A2	OMIM:620366
HP:0000504	Abnormality of vision	84233	TMEM126A	OMIM:612989
HP:0000504	Abnormality of vision	57410	SCYL1	ORPHA:466794
HP:0000504	Abnormality of vision	5076	PAX2	OMIM:120330
HP:0000504	Abnormality of vision	84277	DNAJC30	OMIM:619382
HP:0000504	Abnormality of vision	23102	TBC1D2B	ORPHA:397973
HP:0000504	Abnormality of vision	4327	MMP19	OMIM:611543
HP:0000504	Abnormality of vision	5297	PI4KA	OMIM:619708
HP:0000504	Abnormality of vision	25974	MMACHC	OMIM:277400
HP:0000504	Abnormality of vision	5052	PRDX1	OMIM:277400
HP:0000504	Abnormality of vision	3000	GUCY2D	OMIM:601777
HP:0000504	Abnormality of vision	56623	INPP5E	ORPHA:75858
HP:0000504	Abnormality of vision	92840	REEP6	ORPHA:791
HP:0000504	Abnormality of vision	6094	ROM1	ORPHA:791
HP:0000504	Abnormality of vision	7401	CLRN1	ORPHA:791
HP:0000504	Abnormality of vision	24	ABCA4	ORPHA:791
HP:0000504	Abnormality of vision	130557	ZNF513	ORPHA:791
HP:0000504	Abnormality of vision	582	BBS1	ORPHA:791
HP:0000504	Abnormality of vision	23568	ARL2BP	ORPHA:791
HP:0000504	Abnormality of vision	6121	RPE65	ORPHA:791
HP:0000504	Abnormality of vision	54806	AHI1	ORPHA:791
HP:0000504	Abnormality of vision	6101	RP1	ORPHA:791
HP:0000504	Abnormality of vision	3419	IDH3A	ORPHA:791
HP:0000504	Abnormality of vision	4751	NEK2	ORPHA:791
HP:0000504	Abnormality of vision	346007	EYS	ORPHA:791
HP:0000504	Abnormality of vision	8100	IFT88	ORPHA:791
HP:0000504	Abnormality of vision	23020	SNRNP200	ORPHA:791
HP:0000504	Abnormality of vision	762	CA4	ORPHA:791
HP:0000504	Abnormality of vision	138050	HGSNAT	ORPHA:791
HP:0000504	Abnormality of vision	196	AHR	ORPHA:791
HP:0000504	Abnormality of vision	196	AHR	OMIM:618345
HP:0000504	Abnormality of vision	3614	IMPDH1	ORPHA:791
HP:0000504	Abnormality of vision	123016	TTC8	ORPHA:791
HP:0000504	Abnormality of vision	5148	PDE6G	ORPHA:791
HP:0000504	Abnormality of vision	26160	IFT172	ORPHA:791
HP:0000504	Abnormality of vision	26121	PRPF31	ORPHA:791
HP:0000504	Abnormality of vision	583	BBS2	ORPHA:791
HP:0000504	Abnormality of vision	4117	MAK	ORPHA:791
HP:0000504	Abnormality of vision	25794	FSCN2	ORPHA:791
HP:0000504	Abnormality of vision	375298	CERKL	ORPHA:791
HP:0000504	Abnormality of vision	3420	IDH3B	ORPHA:791
HP:0000504	Abnormality of vision	7275	TUB	ORPHA:791
HP:0000504	Abnormality of vision	24148	PRPF6	ORPHA:791
HP:0000504	Abnormality of vision	23418	CRB1	ORPHA:791
HP:0000504	Abnormality of vision	57709	SLC7A14	ORPHA:791
HP:0000504	Abnormality of vision	768206	PRCD	ORPHA:791
HP:0000504	Abnormality of vision	7399	USH2A	ORPHA:791
HP:0000504	Abnormality of vision	23370	ARHGEF18	ORPHA:791
HP:0000504	Abnormality of vision	5949	RBP3	ORPHA:791
HP:0000504	Abnormality of vision	6100	RP9	ORPHA:791
HP:0000504	Abnormality of vision	10002	NR2E3	ORPHA:791
HP:0000504	Abnormality of vision	9227	LRAT	ORPHA:791
HP:0000504	Abnormality of vision	84140	FAM161A	ORPHA:791
HP:0000504	Abnormality of vision	55812	SPATA7	ORPHA:791
HP:0000504	Abnormality of vision	55624	POMGNT1	ORPHA:791
HP:0000504	Abnormality of vision	5145	PDE6A	ORPHA:791
HP:0000504	Abnormality of vision	10210	TOPORS	ORPHA:791
HP:0000504	Abnormality of vision	8842	PROM1	ORPHA:791
HP:0000504	Abnormality of vision	9128	PRPF4	ORPHA:791
HP:0000504	Abnormality of vision	145226	RDH12	ORPHA:791
HP:0000504	Abnormality of vision	50939	IMPG2	ORPHA:791
HP:0000504	Abnormality of vision	8481	OFD1	ORPHA:791
HP:0000504	Abnormality of vision	49855	SCAPER	ORPHA:791
HP:0000504	Abnormality of vision	2979	GUCA1B	ORPHA:791
HP:0000504	Abnormality of vision	1259	CNGA1	ORPHA:791
HP:0000504	Abnormality of vision	1258	CNGB1	ORPHA:791
HP:0000504	Abnormality of vision	60509	AGBL5	ORPHA:791
HP:0000504	Abnormality of vision	388939	PCARE	ORPHA:791
HP:0000504	Abnormality of vision	9785	DHX38	ORPHA:791
HP:0000504	Abnormality of vision	7287	TULP1	ORPHA:791
HP:0000504	Abnormality of vision	5995	RGR	ORPHA:791
HP:0000504	Abnormality of vision	9129	PRPF3	ORPHA:791
HP:0000504	Abnormality of vision	55975	KLHL7	ORPHA:791
HP:0000504	Abnormality of vision	3617	IMPG1	ORPHA:791
HP:0000504	Abnormality of vision	94137	RP1L1	ORPHA:791
HP:0000504	Abnormality of vision	5158	PDE6B	ORPHA:791
HP:0000504	Abnormality of vision	6102	RP2	ORPHA:791
HP:0000504	Abnormality of vision	55857	KIZ	ORPHA:791
HP:0000504	Abnormality of vision	4901	NRL	ORPHA:791
HP:0000504	Abnormality of vision	10594	PRPF8	ORPHA:791
HP:0000504	Abnormality of vision	84100	ARL6	ORPHA:791
HP:0000504	Abnormality of vision	79947	DHDDS	ORPHA:791
HP:0000504	Abnormality of vision	5456	POU3F4	ORPHA:1435
HP:0000504	Abnormality of vision	114902	C1QTNF5	OMIM:605670
HP:0000504	Abnormality of vision	136371	ASB10	OMIM:603383
HP:0000504	Abnormality of vision	471	ATIC	ORPHA:250977
HP:0000504	Abnormality of vision	471	ATIC	OMIM:608688
HP:0000504	Abnormality of vision	1757	SARDH	ORPHA:3129
HP:0000504	Abnormality of vision	286053	NSMCE2	ORPHA:436182
HP:0000504	Abnormality of vision	7518	XRCC4	ORPHA:436182
HP:0000504	Abnormality of vision	9927	MFN2	OMIM:601152
HP:0000504	Abnormality of vision	6533	SLC6A6	OMIM:145350
HP:0000504	Abnormality of vision	10283	CWC27	OMIM:250410
HP:0000504	Abnormality of vision	1737	DLAT	ORPHA:79244
HP:0000504	Abnormality of vision	79628	SH3TC2	ORPHA:99949
HP:0000504	Abnormality of vision	51594	NBAS	OMIM:614800
HP:0000504	Abnormality of vision	2652	OPN1MW	OMIM:303800
HP:0000504	Abnormality of vision	83550	GPR101	OMIM:300942
HP:0000504	Abnormality of vision	9692	PRORP	OMIM:619737
HP:0000504	Abnormality of vision	2475	MTOR	ORPHA:99802
HP:0000504	Abnormality of vision	10000	AKT3	ORPHA:99802
HP:0000504	Abnormality of vision	55209	SETD5	ORPHA:404440
HP:0000504	Abnormality of vision	2202	EFEMP1	ORPHA:75376
HP:0000504	Abnormality of vision	3075	CFH	ORPHA:75376
HP:0000504	Abnormality of vision	3426	CFI	ORPHA:75376
HP:0000504	Abnormality of vision	5961	PRPH2	OMIM:608161
HP:0000504	Abnormality of vision	5961	PRPH2	OMIM:169150
HP:0000504	Abnormality of vision	7439	BEST1	ORPHA:1243
HP:0000504	Abnormality of vision	5167	ENPP1	ORPHA:758
HP:0000504	Abnormality of vision	368	ABCC6	ORPHA:758
HP:0000504	Abnormality of vision	1406	CRX	OMIM:120970
HP:0000504	Abnormality of vision	8314	BAP1	ORPHA:39044
HP:0000504	Abnormality of vision	57105	CYSLTR2	ORPHA:39044
HP:0000504	Abnormality of vision	2776	GNAQ	ORPHA:39044
HP:0000504	Abnormality of vision	2767	GNA11	ORPHA:39044
HP:0000504	Abnormality of vision	23451	SF3B1	ORPHA:39044
HP:0000504	Abnormality of vision	773	CACNA1A	ORPHA:569
HP:0000504	Abnormality of vision	112476	PRRT2	ORPHA:569
HP:0000504	Abnormality of vision	6323	SCN1A	ORPHA:569
HP:0000504	Abnormality of vision	477	ATP1A2	ORPHA:569
HP:0000504	Abnormality of vision	8787	RGS9	OMIM:608415
HP:0000504	Abnormality of vision	778	CACNA1F	ORPHA:178333
HP:0000504	Abnormality of vision	4041	LRP5	ORPHA:2788
HP:0000504	Abnormality of vision	10059	DNM1L	ORPHA:98673
HP:0000504	Abnormality of vision	5879	RAC1	ORPHA:500159
HP:0000504	Abnormality of vision	23600	AMACR	ORPHA:79095
HP:0000504	Abnormality of vision	80201	HKDC1	OMIM:619614
HP:0000504	Abnormality of vision	51095	TRNT1	OMIM:616959
HP:0000504	Abnormality of vision	22926	ATF6	ORPHA:49382
HP:0000504	Abnormality of vision	5146	PDE6C	ORPHA:49382
HP:0000504	Abnormality of vision	6103	RPGR	ORPHA:49382
HP:0000504	Abnormality of vision	5149	PDE6H	ORPHA:49382
HP:0000504	Abnormality of vision	2780	GNAT2	ORPHA:49382
HP:0000504	Abnormality of vision	1261	CNGA3	ORPHA:49382
HP:0000504	Abnormality of vision	54714	CNGB3	ORPHA:49382
HP:0000504	Abnormality of vision	611	OPN1SW	ORPHA:88629
HP:0000504	Abnormality of vision	79152	FA2H	ORPHA:329308
HP:0000504	Abnormality of vision	10939	AFG3L2	OMIM:618977
HP:0000504	Abnormality of vision	4508	MT-ATP6	ORPHA:644
HP:0000504	Abnormality of vision	1499	CTNNB1	ORPHA:54595
HP:0000504	Abnormality of vision	673	BRAF	ORPHA:54595
HP:0000504	Abnormality of vision	6598	SMARCB1	ORPHA:2495
HP:0000504	Abnormality of vision	5155	PDGFB	ORPHA:2495
HP:0000504	Abnormality of vision	84231	TRAF7	ORPHA:2495
HP:0000504	Abnormality of vision	207	AKT1	ORPHA:2495
HP:0000504	Abnormality of vision	5290	PIK3CA	ORPHA:2495
HP:0000504	Abnormality of vision	7015	TERT	ORPHA:2495
HP:0000504	Abnormality of vision	51684	SUFU	ORPHA:2495
HP:0000504	Abnormality of vision	6605	SMARCE1	ORPHA:2495
HP:0000504	Abnormality of vision	4308	TRPM1	ORPHA:215
HP:0000504	Abnormality of vision	57010	CABP4	ORPHA:215
HP:0000504	Abnormality of vision	345193	LRIT3	ORPHA:215
HP:0000504	Abnormality of vision	93589	CACNA2D4	ORPHA:215
HP:0000504	Abnormality of vision	2916	GRM6	ORPHA:215
HP:0000504	Abnormality of vision	440435	GPR179	ORPHA:215
HP:0000504	Abnormality of vision	9187	SLC24A1	ORPHA:215
HP:0000504	Abnormality of vision	2784	GNB3	ORPHA:215
HP:0000504	Abnormality of vision	2779	GNAT1	ORPHA:215
HP:0000504	Abnormality of vision	60506	NYX	ORPHA:215
HP:0000504	Abnormality of vision	6935	ZEB1	ORPHA:98973
HP:0000504	Abnormality of vision	30813	VSX1	ORPHA:98973
HP:0000504	Abnormality of vision	58495	OVOL2	ORPHA:98973
HP:0000504	Abnormality of vision	79977	GRHL2	ORPHA:98973
HP:0000504	Abnormality of vision	1296	COL8A2	ORPHA:98973
HP:0000504	Abnormality of vision	64802	NMNAT1	OMIM:608553
HP:0000504	Abnormality of vision	3166	HMX1	OMIM:612109
HP:0000504	Abnormality of vision	151	ADRA2B	ORPHA:86814
HP:0000504	Abnormality of vision	55689	YEATS2	ORPHA:86814
HP:0000504	Abnormality of vision	1501	CTNND2	ORPHA:86814
HP:0000504	Abnormality of vision	10299	MARCHF6	ORPHA:86814
HP:0000504	Abnormality of vision	6900	CNTN2	ORPHA:86814
HP:0000504	Abnormality of vision	401474	SAMD12	ORPHA:86814
HP:0000504	Abnormality of vision	10019	SH2B3	ORPHA:3318
HP:0000504	Abnormality of vision	811	CALR	ORPHA:3318
HP:0000504	Abnormality of vision	4352	MPL	ORPHA:3318
HP:0000504	Abnormality of vision	3717	JAK2	ORPHA:3318
HP:0000504	Abnormality of vision	54790	TET2	ORPHA:3318
HP:0000504	Abnormality of vision	3593	IL12B	ORPHA:3287
HP:0000504	Abnormality of vision	6945	MLX	ORPHA:3287
HP:0000504	Abnormality of vision	51816	ADA2	ORPHA:820
HP:0000504	Abnormality of vision	291	SLC25A4	ORPHA:254892
HP:0000504	Abnormality of vision	56652	TWNK	ORPHA:254892
HP:0000504	Abnormality of vision	11232	POLG2	ORPHA:254892
HP:0000504	Abnormality of vision	11232	POLG2	OMIM:610131
HP:0000504	Abnormality of vision	50484	RRM2B	ORPHA:254892
HP:0000504	Abnormality of vision	10466	COG5	ORPHA:263487
HP:0000504	Abnormality of vision	104	ADARB1	OMIM:618862
HP:0000504	Abnormality of vision	1183	CLCN4	OMIM:300114
HP:0000504	Abnormality of vision	1183	CLCN4	ORPHA:485350
HP:0000504	Abnormality of vision	776	CACNA1D	OMIM:615474
HP:0000504	Abnormality of vision	776	CACNA1D	ORPHA:369929
HP:0000504	Abnormality of vision	55823	VPS11	OMIM:616683
HP:0000504	Abnormality of vision	55823	VPS11	ORPHA:466934
HP:0000504	Abnormality of vision	7355	SLC35A2	ORPHA:356961
HP:0000504	Abnormality of vision	65062	TMEM237	OMIM:614424
HP:0000504	Abnormality of vision	781	CACNA2D1	OMIM:620149
HP:0000504	Abnormality of vision	85358	SHANK3	OMIM:606232
HP:0000504	Abnormality of vision	6328	SCN3A	OMIM:617938
HP:0000504	Abnormality of vision	1119	CHKA	OMIM:620023
HP:0000504	Abnormality of vision	132158	GLYCTK	ORPHA:941
HP:0000504	Abnormality of vision	10093	ARPC4	OMIM:620141
HP:0000504	Abnormality of vision	128869	PIGU	OMIM:618590
HP:0000504	Abnormality of vision	51112	TRAPPC12	ORPHA:500144
HP:0000504	Abnormality of vision	51112	TRAPPC12	OMIM:617669
HP:0000504	Abnormality of vision	51103	NDUFAF1	OMIM:618234
HP:0000504	Abnormality of vision	387119	CEP85L	OMIM:618873
HP:0000504	Abnormality of vision	387119	CEP85L	ORPHA:572013
HP:0000504	Abnormality of vision	3020	H3-3A	OMIM:619720
HP:0000504	Abnormality of vision	57520	HECW2	OMIM:617268
HP:0000504	Abnormality of vision	396	ARHGDIA	OMIM:615244
HP:0000504	Abnormality of vision	2782	GNB1	ORPHA:488613
HP:0000504	Abnormality of vision	2782	GNB1	OMIM:616973
HP:0000504	Abnormality of vision	27245	AHDC1	ORPHA:412069
HP:0000504	Abnormality of vision	1841	DTYMK	OMIM:619847
HP:0000504	Abnormality of vision	79639	TMEM53	OMIM:619727
HP:0000504	Abnormality of vision	166378	AFG2A	OMIM:616577
HP:0000504	Abnormality of vision	80055	PGAP1	OMIM:615802
HP:0000504	Abnormality of vision	2561	GABRB2	OMIM:617829
HP:0000504	Abnormality of vision	10978	CLP1	OMIM:615803
HP:0000504	Abnormality of vision	271	AMPD2	OMIM:615809
HP:0000504	Abnormality of vision	23499	MACF1	ORPHA:572013
HP:0000504	Abnormality of vision	23499	MACF1	OMIM:618325
HP:0000504	Abnormality of vision	8869	ST3GAL5	OMIM:609056
HP:0000504	Abnormality of vision	1340	COX6B1	OMIM:619051
HP:0000504	Abnormality of vision	4512	MT-CO1	OMIM:540000
HP:0000504	Abnormality of vision	4513	MT-CO2	OMIM:540000
HP:0000504	Abnormality of vision	4514	MT-CO3	OMIM:540000
HP:0000504	Abnormality of vision	4519	MT-CYB	OMIM:540000
HP:0000504	Abnormality of vision	4511	MT-TC	OMIM:540000
HP:0000504	Abnormality of vision	4575	MT-TS2	OMIM:540000
HP:0000504	Abnormality of vision	4558	MT-TF	OMIM:540000
HP:0000504	Abnormality of vision	4541	MT-ND6	OMIM:540000
HP:0000504	Abnormality of vision	4540	MT-ND5	OMIM:540000
HP:0000504	Abnormality of vision	4566	MT-TK	OMIM:540000
HP:0000504	Abnormality of vision	4535	MT-ND1	OMIM:540000
HP:0000504	Abnormality of vision	4572	MT-TQ	OMIM:540000
HP:0000504	Abnormality of vision	4577	MT-TV	OMIM:540000
HP:0000504	Abnormality of vision	4578	MT-TW	OMIM:540000
HP:0000504	Abnormality of vision	473	RERE	ORPHA:494344
HP:0000504	Abnormality of vision	4001	LMNB1	OMIM:619179
HP:0000504	Abnormality of vision	2560	GABRB1	OMIM:617153
HP:0000504	Abnormality of vision	10588	MTHFS	OMIM:618367
HP:0000504	Abnormality of vision	100131801	PET100	OMIM:619055
HP:0000504	Abnormality of vision	55572	FOXRED1	OMIM:618241
HP:0000504	Abnormality of vision	3899	AFF3	OMIM:619297
HP:0000504	Abnormality of vision	6844	VAMP2	OMIM:618760
HP:0000504	Abnormality of vision	5119	CHMP1A	OMIM:614961
HP:0000504	Abnormality of vision	79029	AFG2B	OMIM:619616
HP:0000504	Abnormality of vision	5530	PPP3CA	OMIM:617711
HP:0000504	Abnormality of vision	80746	TSEN2	OMIM:612389
HP:0000504	Abnormality of vision	80746	TSEN2	ORPHA:2524
HP:0000504	Abnormality of vision	93627	TBCK	OMIM:616900
HP:0000504	Abnormality of vision	29920	PYCR2	ORPHA:481152
HP:0000504	Abnormality of vision	2917	GRM7	OMIM:618922
HP:0000504	Abnormality of vision	85465	SELENOI	OMIM:618768
HP:0000504	Abnormality of vision	6821	SUOX	OMIM:272300
HP:0000504	Abnormality of vision	1678	TIMM8A	OMIM:304700
HP:0000504	Abnormality of vision	1678	TIMM8A	ORPHA:52368
HP:0000504	Abnormality of vision	2898	GRIK2	OMIM:619580
HP:0000504	Abnormality of vision	10087	CERT1	OMIM:616351
HP:0000504	Abnormality of vision	774	CACNA1B	OMIM:618497
HP:0000504	Abnormality of vision	11342	RNF13	OMIM:618379
HP:0000504	Abnormality of vision	11342	RNF13	ORPHA:544503
HP:0000504	Abnormality of vision	2906	GRIN2D	OMIM:617162
HP:0000504	Abnormality of vision	5277	PIGA	OMIM:300868
HP:0000504	Abnormality of vision	5277	PIGA	OMIM:301072
HP:0000504	Abnormality of vision	23327	NEDD4L	OMIM:617201
HP:0000504	Abnormality of vision	1822	ATN1	OMIM:618494
HP:0000504	Abnormality of vision	4761	NEUROD2	OMIM:618374
HP:0000504	Abnormality of vision	2257	FGF12	OMIM:617166
HP:0000504	Abnormality of vision	23065	EMC1	OMIM:616875
HP:0000504	Abnormality of vision	23065	EMC1	ORPHA:480898
HP:0000504	Abnormality of vision	1729	DIAPH1	OMIM:616632
HP:0000504	Abnormality of vision	28514	DLL1	ORPHA:93926
HP:0000504	Abnormality of vision	28514	DLL1	ORPHA:93924
HP:0000504	Abnormality of vision	28514	DLL1	ORPHA:93925
HP:0000504	Abnormality of vision	28514	DLL1	ORPHA:220386
HP:0000504	Abnormality of vision	2253	FGF8	ORPHA:93926
HP:0000504	Abnormality of vision	2253	FGF8	ORPHA:93924
HP:0000504	Abnormality of vision	2253	FGF8	ORPHA:93925
HP:0000504	Abnormality of vision	2253	FGF8	ORPHA:220386
HP:0000504	Abnormality of vision	6496	SIX3	ORPHA:93926
HP:0000504	Abnormality of vision	6496	SIX3	ORPHA:93924
HP:0000504	Abnormality of vision	6496	SIX3	ORPHA:93925
HP:0000504	Abnormality of vision	6496	SIX3	ORPHA:220386
HP:0000504	Abnormality of vision	7050	TGIF1	ORPHA:93926
HP:0000504	Abnormality of vision	7050	TGIF1	ORPHA:93924
HP:0000504	Abnormality of vision	7050	TGIF1	ORPHA:93925
HP:0000504	Abnormality of vision	7050	TGIF1	ORPHA:220386
HP:0000504	Abnormality of vision	4838	NODAL	ORPHA:93926
HP:0000504	Abnormality of vision	4838	NODAL	ORPHA:93924
HP:0000504	Abnormality of vision	4838	NODAL	ORPHA:93925
HP:0000504	Abnormality of vision	4838	NODAL	ORPHA:220386
HP:0000504	Abnormality of vision	6469	SHH	ORPHA:93926
HP:0000504	Abnormality of vision	6469	SHH	ORPHA:93924
HP:0000504	Abnormality of vision	6469	SHH	ORPHA:93925
HP:0000504	Abnormality of vision	6469	SHH	ORPHA:220386
HP:0000504	Abnormality of vision	7546	ZIC2	ORPHA:93926
HP:0000504	Abnormality of vision	7546	ZIC2	ORPHA:93924
HP:0000504	Abnormality of vision	7546	ZIC2	ORPHA:93925
HP:0000504	Abnormality of vision	7546	ZIC2	ORPHA:220386
HP:0000504	Abnormality of vision	6491	STIL	ORPHA:93926
HP:0000504	Abnormality of vision	6491	STIL	ORPHA:93924
HP:0000504	Abnormality of vision	6491	STIL	ORPHA:93925
HP:0000504	Abnormality of vision	6491	STIL	ORPHA:220386
HP:0000504	Abnormality of vision	2619	GAS1	ORPHA:93926
HP:0000504	Abnormality of vision	2619	GAS1	ORPHA:93924
HP:0000504	Abnormality of vision	2619	GAS1	ORPHA:93925
HP:0000504	Abnormality of vision	2619	GAS1	ORPHA:220386
HP:0000504	Abnormality of vision	84976	DISP1	ORPHA:93926
HP:0000504	Abnormality of vision	84976	DISP1	ORPHA:93924
HP:0000504	Abnormality of vision	84976	DISP1	ORPHA:93925
HP:0000504	Abnormality of vision	84976	DISP1	ORPHA:220386
HP:0000504	Abnormality of vision	2736	GLI2	ORPHA:93926
HP:0000504	Abnormality of vision	2736	GLI2	ORPHA:93924
HP:0000504	Abnormality of vision	2736	GLI2	ORPHA:93925
HP:0000504	Abnormality of vision	2736	GLI2	ORPHA:220386
HP:0000504	Abnormality of vision	8928	FOXH1	ORPHA:93926
HP:0000504	Abnormality of vision	8928	FOXH1	ORPHA:93924
HP:0000504	Abnormality of vision	8928	FOXH1	ORPHA:93925
HP:0000504	Abnormality of vision	8928	FOXH1	ORPHA:220386
HP:0000504	Abnormality of vision	5727	PTCH1	ORPHA:93926
HP:0000504	Abnormality of vision	5727	PTCH1	ORPHA:93924
HP:0000504	Abnormality of vision	5727	PTCH1	ORPHA:93925
HP:0000504	Abnormality of vision	5727	PTCH1	ORPHA:220386
HP:0000504	Abnormality of vision	50937	CDON	ORPHA:93926
HP:0000504	Abnormality of vision	50937	CDON	ORPHA:93924
HP:0000504	Abnormality of vision	50937	CDON	ORPHA:93925
HP:0000504	Abnormality of vision	50937	CDON	ORPHA:220386
HP:0000504	Abnormality of vision	2260	FGFR1	ORPHA:93924
HP:0000504	Abnormality of vision	2260	FGFR1	ORPHA:220386
HP:0000504	Abnormality of vision	23007	PLCH1	ORPHA:93925
HP:0000504	Abnormality of vision	10735	STAG2	ORPHA:93925
HP:0000504	Abnormality of vision	10735	STAG2	ORPHA:220386
HP:0000504	Abnormality of vision	79731	NARS2	OMIM:616239
HP:0000504	Abnormality of vision	26227	PHGDH	ORPHA:79351
HP:0000504	Abnormality of vision	6638	SNRPN	ORPHA:177907
HP:0000504	Abnormality of vision	6792	CDKL5	OMIM:300672
HP:0000504	Abnormality of vision	5518	PPP2R1A	OMIM:616362
HP:0000504	Abnormality of vision	5518	PPP2R1A	ORPHA:457284
HP:0000504	Abnormality of vision	57003	CCDC47	OMIM:618268
HP:0000504	Abnormality of vision	51604	PIGT	OMIM:615398
HP:0000504	Abnormality of vision	51604	PIGT	ORPHA:369837
HP:0000504	Abnormality of vision	57545	CC2D2A	OMIM:612285
HP:0000504	Abnormality of vision	94005	PIGS	OMIM:618143
HP:0000504	Abnormality of vision	22931	RAB18	OMIM:614222
HP:0000504	Abnormality of vision	22931	RAB18	ORPHA:2510
HP:0000504	Abnormality of vision	9894	TELO2	ORPHA:488642
HP:0000504	Abnormality of vision	9894	TELO2	OMIM:616954
HP:0000504	Abnormality of vision	51692	CPSF3	OMIM:619876
HP:0000504	Abnormality of vision	3098	HK1	OMIM:618547
HP:0000504	Abnormality of vision	85440	DOCK7	ORPHA:411986
HP:0000504	Abnormality of vision	85440	DOCK7	OMIM:615859
HP:0000504	Abnormality of vision	9091	PIGQ	OMIM:618548
HP:0000504	Abnormality of vision	83475	DOHH	OMIM:620066
HP:0000504	Abnormality of vision	84992	PIGY	OMIM:616809
HP:0000504	Abnormality of vision	728294	D2HGDH	OMIM:600721
HP:0000504	Abnormality of vision	2222	FDFT1	OMIM:618156
HP:0000504	Abnormality of vision	90522	YIF1B	OMIM:619125
HP:0000504	Abnormality of vision	253959	RALGAPA1	OMIM:618797
HP:0000504	Abnormality of vision	283989	TSEN54	ORPHA:2524
HP:0000504	Abnormality of vision	116461	TSEN15	ORPHA:2524
HP:0000504	Abnormality of vision	79042	TSEN34	ORPHA:2524
HP:0000504	Abnormality of vision	51091	SEPSECS	ORPHA:2524
HP:0000504	Abnormality of vision	2555	GABRA2	OMIM:618557
HP:0000504	Abnormality of vision	25973	PARS2	OMIM:618437
HP:0000504	Abnormality of vision	8911	CACNA1I	OMIM:620114
HP:0000504	Abnormality of vision	60386	SLC25A19	OMIM:607196
HP:0000504	Abnormality of vision	8813	DPM1	OMIM:608799
HP:0000504	Abnormality of vision	8813	DPM1	ORPHA:79322
HP:0000504	Abnormality of vision	57107	PDSS2	ORPHA:255249
HP:0000504	Abnormality of vision	57107	PDSS2	OMIM:614652
HP:0000504	Abnormality of vision	27235	COQ2	ORPHA:255249
HP:0000504	Abnormality of vision	23162	MAPK8IP3	OMIM:618443
HP:0000504	Abnormality of vision	197258	FCSK	OMIM:618324
HP:0000504	Abnormality of vision	3798	KIF5A	OMIM:617235
HP:0000504	Abnormality of vision	440	ASNS	OMIM:615574
HP:0000504	Abnormality of vision	777	CACNA1E	OMIM:618285
HP:0000504	Abnormality of vision	4668	NAGA	OMIM:609241
HP:0000504	Abnormality of vision	4668	NAGA	ORPHA:79279
HP:0000504	Abnormality of vision	8243	SMC1A	ORPHA:220386
HP:0000504	Abnormality of vision	133686	NADK2	ORPHA:431361
HP:0000504	Abnormality of vision	133686	NADK2	OMIM:616034
HP:0000504	Abnormality of vision	738	VPS51	OMIM:618606
HP:0000504	Abnormality of vision	51227	PIGP	OMIM:617599
HP:0000504	Abnormality of vision	1107	CHD3	OMIM:618205
HP:0000504	Abnormality of vision	5718	PSMD12	OMIM:617516
HP:0000504	Abnormality of vision	9757	KMT2B	OMIM:619934
HP:0000504	Abnormality of vision	57731	SPTBN4	OMIM:617519
HP:0000504	Abnormality of vision	22930	RAB3GAP1	ORPHA:2510
HP:0000504	Abnormality of vision	25782	RAB3GAP2	ORPHA:2510
HP:0000504	Abnormality of vision	128637	TBC1D20	ORPHA:2510
HP:0000504	Abnormality of vision	116150	NUS1	OMIM:617082
HP:0000504	Abnormality of vision	2902	GRIN1	OMIM:614254
HP:0000504	Abnormality of vision	2902	GRIN1	ORPHA:208447
HP:0000504	Abnormality of vision	51693	TRAPPC2L	OMIM:618331
HP:0000504	Abnormality of vision	9276	COPB2	OMIM:617800
HP:0000504	Abnormality of vision	10844	TUBGCP2	OMIM:618737
HP:0000504	Abnormality of vision	547	KIF1A	OMIM:614255
HP:0000504	Abnormality of vision	221927	BRAT1	OMIM:614498
HP:0000504	Abnormality of vision	58497	PRUNE1	ORPHA:544469
HP:0000504	Abnormality of vision	55294	FBXW7	OMIM:620012
HP:0000504	Abnormality of vision	153642	ARSK	OMIM:619698
HP:0000504	Abnormality of vision	55214	P3H2	OMIM:614292
HP:0000504	Abnormality of vision	5956	OPN1LW	OMIM:303900
HP:0000505	Visual impairment	8974	P4HA2	ORPHA:397
HP:0000505	Visual impairment	2697	GJA1	ORPHA:1522
HP:0000505	Visual impairment	2697	GJA1	ORPHA:2710
HP:0000505	Visual impairment	56172	ANKH	ORPHA:1522
HP:0000505	Visual impairment	1024	CDK8	OMIM:618748
HP:0000505	Visual impairment	19	ABCA1	OMIM:205400
HP:0000505	Visual impairment	1161	ERCC8	ORPHA:90321
HP:0000505	Visual impairment	1161	ERCC8	ORPHA:90322
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:90321
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:90322
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:1466
HP:0000505	Visual impairment	2067	ERCC1	ORPHA:90322
HP:0000505	Visual impairment	2067	ERCC1	ORPHA:1466
HP:0000505	Visual impairment	4072	EPCAM	ORPHA:144
HP:0000505	Visual impairment	4292	MLH1	ORPHA:144
HP:0000505	Visual impairment	5395	PMS2	ORPHA:144
HP:0000505	Visual impairment	27030	MLH3	ORPHA:144
HP:0000505	Visual impairment	22909	FAN1	ORPHA:144
HP:0000505	Visual impairment	7048	TGFBR2	ORPHA:144
HP:0000505	Visual impairment	3845	KRAS	ORPHA:144
HP:0000505	Visual impairment	2956	MSH6	ORPHA:144
HP:0000505	Visual impairment	5378	PMS1	ORPHA:144
HP:0000505	Visual impairment	4436	MSH2	ORPHA:144
HP:0000505	Visual impairment	5322	PLA2G5	OMIM:228980
HP:0000505	Visual impairment	200205	IBA57	OMIM:616451
HP:0000505	Visual impairment	200205	IBA57	ORPHA:468661
HP:0000505	Visual impairment	200205	IBA57	OMIM:615330
HP:0000505	Visual impairment	657	BMPR1A	ORPHA:440437
HP:0000505	Visual impairment	6224	RPS20	ORPHA:440437
HP:0000505	Visual impairment	8754	ADAM9	ORPHA:1872
HP:0000505	Visual impairment	8754	ADAM9	OMIM:612775
HP:0000505	Visual impairment	22999	RIMS1	ORPHA:1872
HP:0000505	Visual impairment	22999	RIMS1	OMIM:603649
HP:0000505	Visual impairment	9094	UNC119	ORPHA:1872
HP:0000505	Visual impairment	85015	USP45	OMIM:618513
HP:0000505	Visual impairment	6023	RMRP	ORPHA:175
HP:0000505	Visual impairment	284058	KANSL1	ORPHA:363958
HP:0000505	Visual impairment	284058	KANSL1	ORPHA:363965
HP:0000505	Visual impairment	535	ATP6V0A1	OMIM:619970
HP:0000505	Visual impairment	816	CAMK2B	OMIM:617799
HP:0000505	Visual impairment	815	CAMK2A	OMIM:617798
HP:0000505	Visual impairment	3423	IDS	ORPHA:217085
HP:0000505	Visual impairment	3423	IDS	ORPHA:217093
HP:0000505	Visual impairment	83480	PUS3	ORPHA:488627
HP:0000505	Visual impairment	80208	SPG11	ORPHA:2822
HP:0000505	Visual impairment	80208	SPG11	OMIM:604360
HP:0000505	Visual impairment	388962	BOLA3	OMIM:614299
HP:0000505	Visual impairment	7157	TP53	ORPHA:2807
HP:0000505	Visual impairment	150468	CKAP2L	OMIM:272440
HP:0000505	Visual impairment	5590	PRKCZ	ORPHA:1606
HP:0000505	Visual impairment	2563	GABRD	ORPHA:1606
HP:0000505	Visual impairment	23013	SPEN	ORPHA:1606
HP:0000505	Visual impairment	8510	MMP23B	ORPHA:1606
HP:0000505	Visual impairment	7798	LUZP1	ORPHA:1606
HP:0000505	Visual impairment	6497	SKI	ORPHA:1606
HP:0000505	Visual impairment	10630	PDPN	ORPHA:1606
HP:0000505	Visual impairment	3339	HSPG2	ORPHA:1606
HP:0000505	Visual impairment	3339	HSPG2	ORPHA:800
HP:0000505	Visual impairment	10277	UBE4B	ORPHA:1606
HP:0000505	Visual impairment	8514	KCNAB2	ORPHA:1606
HP:0000505	Visual impairment	63976	PRDM16	ORPHA:1606
HP:0000505	Visual impairment	54897	CASZ1	ORPHA:1606
HP:0000505	Visual impairment	4556	MT-TE	ORPHA:225
HP:0000505	Visual impairment	285362	SUMF1	ORPHA:585
HP:0000505	Visual impairment	8517	IKBKG	ORPHA:464
HP:0000505	Visual impairment	122961	ISCA2	OMIM:616370
HP:0000505	Visual impairment	8733	GPAA1	ORPHA:529665
HP:0000505	Visual impairment	8733	GPAA1	OMIM:617810
HP:0000505	Visual impairment	10991	SLC38A3	OMIM:619881
HP:0000505	Visual impairment	56947	MFF	ORPHA:485421
HP:0000505	Visual impairment	56947	MFF	OMIM:617086
HP:0000505	Visual impairment	2271	FH	OMIM:606812
HP:0000505	Visual impairment	9922	IQSEC1	OMIM:618687
HP:0000505	Visual impairment	85365	ALG2	OMIM:607906
HP:0000505	Visual impairment	125988	MICOS13	OMIM:618329
HP:0000505	Visual impairment	125988	MICOS13	ORPHA:67047
HP:0000505	Visual impairment	80173	IFT74	OMIM:617119
HP:0000505	Visual impairment	100151683	RNU4ATAC	ORPHA:1824
HP:0000505	Visual impairment	57192	MCOLN1	OMIM:252650
HP:0000505	Visual impairment	9896	FIG4	ORPHA:208441
HP:0000505	Visual impairment	8295	TRRAP	OMIM:618454
HP:0000505	Visual impairment	6857	SYT1	OMIM:618218
HP:0000505	Visual impairment	8803	SUCLA2	ORPHA:1933
HP:0000505	Visual impairment	10371	SEMA3A	ORPHA:478
HP:0000505	Visual impairment	81848	SPRY4	ORPHA:478
HP:0000505	Visual impairment	23767	FLRT3	ORPHA:478
HP:0000505	Visual impairment	128674	PROKR2	ORPHA:478
HP:0000505	Visual impairment	128674	PROKR2	ORPHA:3157
HP:0000505	Visual impairment	79625	NDNF	ORPHA:478
HP:0000505	Visual impairment	389549	FEZF1	ORPHA:478
HP:0000505	Visual impairment	1630	DCC	ORPHA:478
HP:0000505	Visual impairment	3730	ANOS1	ORPHA:478
HP:0000505	Visual impairment	54756	IL17RD	ORPHA:478
HP:0000505	Visual impairment	6663	SOX10	ORPHA:478
HP:0000505	Visual impairment	285025	CCDC141	ORPHA:478
HP:0000505	Visual impairment	60675	PROK2	ORPHA:478
HP:0000505	Visual impairment	55636	CHD7	ORPHA:478
HP:0000505	Visual impairment	1848	DUSP6	ORPHA:478
HP:0000505	Visual impairment	6870	TACR3	ORPHA:478
HP:0000505	Visual impairment	55717	WDR11	ORPHA:478
HP:0000505	Visual impairment	9394	HS6ST1	ORPHA:478
HP:0000505	Visual impairment	8820	HESX1	ORPHA:478
HP:0000505	Visual impairment	8820	HESX1	ORPHA:3157
HP:0000505	Visual impairment	8822	FGF17	ORPHA:478
HP:0000505	Visual impairment	9488	PIGB	OMIM:618580
HP:0000505	Visual impairment	54892	NCAPG2	OMIM:618460
HP:0000505	Visual impairment	10102	TSFM	OMIM:610505
HP:0000505	Visual impairment	29887	SNX10	ORPHA:667
HP:0000505	Visual impairment	55630	SLC39A4	ORPHA:37
HP:0000505	Visual impairment	10733	PLK4	OMIM:616171
HP:0000505	Visual impairment	10733	PLK4	ORPHA:2518
HP:0000505	Visual impairment	5515	PPP2CA	OMIM:618354
HP:0000505	Visual impairment	7084	TK2	ORPHA:254886
HP:0000505	Visual impairment	1436	CSF1R	OMIM:618476
HP:0000505	Visual impairment	8867	SYNJ1	OMIM:617389
HP:0000505	Visual impairment	4081	MAB21L1	OMIM:618479
HP:0000505	Visual impairment	1654	DDX3X	ORPHA:457260
HP:0000505	Visual impairment	55777	MBD5	OMIM:156200
HP:0000505	Visual impairment	5980	REV3L	ORPHA:570
HP:0000505	Visual impairment	23129	PLXND1	ORPHA:570
HP:0000505	Visual impairment	57551	TAOK1	OMIM:619575
HP:0000505	Visual impairment	3119	HLA-DQB1	OMIM:123400
HP:0000505	Visual impairment	5621	PRNP	OMIM:123400
HP:0000505	Visual impairment	112812	FDX2	OMIM:251900
HP:0000505	Visual impairment	26040	SETBP1	OMIM:616078
HP:0000505	Visual impairment	26040	SETBP1	ORPHA:798
HP:0000505	Visual impairment	84705	GTPBP3	OMIM:616198
HP:0000505	Visual impairment	84705	GTPBP3	ORPHA:444013
HP:0000505	Visual impairment	5144	PDE4D	ORPHA:439822
HP:0000505	Visual impairment	388531	RGS9BP	ORPHA:75374
HP:0000505	Visual impairment	8787	RGS9	ORPHA:75374
HP:0000505	Visual impairment	57187	THOC2	OMIM:300957
HP:0000505	Visual impairment	4810	NHS	ORPHA:627
HP:0000505	Visual impairment	29926	GMPPA	ORPHA:869
HP:0000505	Visual impairment	60684	TRAPPC11	ORPHA:869
HP:0000505	Visual impairment	8086	AAAS	ORPHA:869
HP:0000505	Visual impairment	5184	PEPD	ORPHA:742
HP:0000505	Visual impairment	84172	POLR1B	ORPHA:861
HP:0000505	Visual impairment	9533	POLR1C	ORPHA:861
HP:0000505	Visual impairment	51082	POLR1D	ORPHA:861
HP:0000505	Visual impairment	6949	TCOF1	ORPHA:861
HP:0000505	Visual impairment	374354	NHLRC2	OMIM:618278
HP:0000505	Visual impairment	29123	ANKRD11	ORPHA:261250
HP:0000505	Visual impairment	9573	GDF3	OMIM:613703
HP:0000505	Visual impairment	392255	GDF6	OMIM:613703
HP:0000505	Visual impairment	2799	GNS	OMIM:252940
HP:0000505	Visual impairment	55670	PEX26	ORPHA:772
HP:0000505	Visual impairment	55670	PEX26	OMIM:614873
HP:0000505	Visual impairment	55670	PEX26	ORPHA:44
HP:0000505	Visual impairment	55670	PEX26	ORPHA:912
HP:0000505	Visual impairment	5824	PEX19	ORPHA:772
HP:0000505	Visual impairment	5824	PEX19	ORPHA:44
HP:0000505	Visual impairment	5824	PEX19	ORPHA:912
HP:0000505	Visual impairment	5828	PEX2	ORPHA:772
HP:0000505	Visual impairment	5828	PEX2	OMIM:614867
HP:0000505	Visual impairment	5828	PEX2	ORPHA:44
HP:0000505	Visual impairment	5828	PEX2	ORPHA:912
HP:0000505	Visual impairment	8504	PEX3	ORPHA:772
HP:0000505	Visual impairment	8504	PEX3	ORPHA:44
HP:0000505	Visual impairment	8504	PEX3	ORPHA:912
HP:0000505	Visual impairment	9409	PEX16	ORPHA:772
HP:0000505	Visual impairment	9409	PEX16	OMIM:614877
HP:0000505	Visual impairment	9409	PEX16	ORPHA:44
HP:0000505	Visual impairment	9409	PEX16	ORPHA:912
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:772
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:44
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:912
HP:0000505	Visual impairment	5830	PEX5	ORPHA:772
HP:0000505	Visual impairment	5830	PEX5	ORPHA:44
HP:0000505	Visual impairment	5830	PEX5	ORPHA:912
HP:0000505	Visual impairment	5189	PEX1	ORPHA:772
HP:0000505	Visual impairment	5189	PEX1	ORPHA:44
HP:0000505	Visual impairment	5189	PEX1	ORPHA:912
HP:0000505	Visual impairment	5193	PEX12	ORPHA:772
HP:0000505	Visual impairment	5193	PEX12	ORPHA:44
HP:0000505	Visual impairment	5193	PEX12	ORPHA:912
HP:0000505	Visual impairment	5194	PEX13	ORPHA:772
HP:0000505	Visual impairment	5194	PEX13	ORPHA:44
HP:0000505	Visual impairment	5194	PEX13	ORPHA:912
HP:0000505	Visual impairment	5195	PEX14	ORPHA:772
HP:0000505	Visual impairment	5195	PEX14	ORPHA:44
HP:0000505	Visual impairment	5195	PEX14	ORPHA:912
HP:0000505	Visual impairment	5192	PEX10	ORPHA:772
HP:0000505	Visual impairment	5192	PEX10	OMIM:614871
HP:0000505	Visual impairment	5192	PEX10	ORPHA:44
HP:0000505	Visual impairment	5192	PEX10	ORPHA:912
HP:0000505	Visual impairment	627	BDNF	ORPHA:893
HP:0000505	Visual impairment	7490	WT1	ORPHA:893
HP:0000505	Visual impairment	84295	PHF6	OMIM:301900
HP:0000505	Visual impairment	124454	EARS2	OMIM:614924
HP:0000505	Visual impairment	84842	HPDL	OMIM:619026
HP:0000505	Visual impairment	27161	AGO2	OMIM:619149
HP:0000505	Visual impairment	4921	DDR2	OMIM:618175
HP:0000505	Visual impairment	84168	ANTXR1	ORPHA:2067
HP:0000505	Visual impairment	3708	ITPR1	OMIM:206700
HP:0000505	Visual impairment	5167	ENPP1	ORPHA:758
HP:0000505	Visual impairment	6657	SOX2	ORPHA:3157
HP:0000505	Visual impairment	6658	SOX3	ORPHA:3157
HP:0000505	Visual impairment	5015	OTX2	ORPHA:3157
HP:0000505	Visual impairment	3476	IGBP1	OMIM:300472
HP:0000505	Visual impairment	27183	VPS4A	OMIM:619273
HP:0000505	Visual impairment	126326	GIPC3	OMIM:601869
HP:0000505	Visual impairment	8506	CNTNAP1	OMIM:618186
HP:0000505	Visual impairment	145173	B3GLCT	ORPHA:709
HP:0000505	Visual impairment	324	APC	ORPHA:99818
HP:0000505	Visual impairment	2896	GRN	OMIM:614706
HP:0000505	Visual impairment	10667	FARS2	OMIM:614946
HP:0000505	Visual impairment	51218	GLRX5	ORPHA:401866
HP:0000505	Visual impairment	51218	GLRX5	OMIM:616859
HP:0000505	Visual impairment	170302	ARX	OMIM:300004
HP:0000505	Visual impairment	63908	NAPB	OMIM:620033
HP:0000505	Visual impairment	57492	ARID1B	OMIM:135900
HP:0000505	Visual impairment	57492	ARID1B	ORPHA:1465
HP:0000505	Visual impairment	9739	SETD1A	OMIM:619056
HP:0000505	Visual impairment	8289	ARID1A	OMIM:614607
HP:0000505	Visual impairment	8289	ARID1A	ORPHA:1465
HP:0000505	Visual impairment	672	BRCA1	ORPHA:84
HP:0000505	Visual impairment	10459	MAD2L2	ORPHA:84
HP:0000505	Visual impairment	7516	XRCC2	ORPHA:84
HP:0000505	Visual impairment	29089	UBE2T	ORPHA:84
HP:0000505	Visual impairment	675	BRCA2	ORPHA:84
HP:0000505	Visual impairment	55120	FANCL	ORPHA:84
HP:0000505	Visual impairment	2177	FANCD2	ORPHA:84
HP:0000505	Visual impairment	2175	FANCA	ORPHA:84
HP:0000505	Visual impairment	2187	FANCB	ORPHA:84
HP:0000505	Visual impairment	2176	FANCC	ORPHA:84
HP:0000505	Visual impairment	2178	FANCE	ORPHA:84
HP:0000505	Visual impairment	2188	FANCF	ORPHA:84
HP:0000505	Visual impairment	2189	FANCG	ORPHA:84
HP:0000505	Visual impairment	5888	RAD51	ORPHA:84
HP:0000505	Visual impairment	5889	RAD51C	ORPHA:84
HP:0000505	Visual impairment	55159	RFWD3	ORPHA:84
HP:0000505	Visual impairment	83990	BRIP1	ORPHA:84
HP:0000505	Visual impairment	57697	FANCM	ORPHA:84
HP:0000505	Visual impairment	79728	PALB2	ORPHA:84
HP:0000505	Visual impairment	84464	SLX4	ORPHA:84
HP:0000505	Visual impairment	55215	FANCI	ORPHA:84
HP:0000505	Visual impairment	7276	TTR	OMIM:105210
HP:0000505	Visual impairment	6597	SMARCA4	OMIM:614609
HP:0000505	Visual impairment	6597	SMARCA4	ORPHA:1465
HP:0000505	Visual impairment	7274	TTPA	ORPHA:96
HP:0000505	Visual impairment	9839	ZEB2	ORPHA:261552
HP:0000505	Visual impairment	6999	TDO2	OMIM:600627
HP:0000505	Visual impairment	388551	CEACAM16	OMIM:614614
HP:0000505	Visual impairment	10382	TUBB4A	OMIM:612438
HP:0000505	Visual impairment	330	BIRC3	ORPHA:52417
HP:0000505	Visual impairment	10892	MALT1	ORPHA:52417
HP:0000505	Visual impairment	27086	FOXP1	ORPHA:52417
HP:0000505	Visual impairment	3492	IGH	ORPHA:52417
HP:0000505	Visual impairment	8915	BCL10	ORPHA:52417
HP:0000505	Visual impairment	56006	SMG9	OMIM:616920
HP:0000505	Visual impairment	1593	CYP27A1	ORPHA:909
HP:0000505	Visual impairment	9255	AIMP1	OMIM:260600
HP:0000505	Visual impairment	6804	STX1A	ORPHA:904
HP:0000505	Visual impairment	7461	CLIP2	ORPHA:904
HP:0000505	Visual impairment	8468	FKBP6	ORPHA:904
HP:0000505	Visual impairment	5982	RFC2	ORPHA:904
HP:0000505	Visual impairment	2969	GTF2I	ORPHA:904
HP:0000505	Visual impairment	3984	LIMK1	ORPHA:904
HP:0000505	Visual impairment	9569	GTF2IRD1	ORPHA:904
HP:0000505	Visual impairment	155382	VPS37D	ORPHA:904
HP:0000505	Visual impairment	155368	METTL27	ORPHA:904
HP:0000505	Visual impairment	114049	BUD23	ORPHA:904
HP:0000505	Visual impairment	7458	EIF4H	ORPHA:904
HP:0000505	Visual impairment	84163	GTF2IRD2	ORPHA:904
HP:0000505	Visual impairment	9275	BCL7B	ORPHA:904
HP:0000505	Visual impairment	26608	TBL2	ORPHA:904
HP:0000505	Visual impairment	653361	NCF1	ORPHA:904
HP:0000505	Visual impairment	135886	TMEM270	ORPHA:904
HP:0000505	Visual impairment	9031	BAZ1B	ORPHA:904
HP:0000505	Visual impairment	90624	LYRM7	OMIM:615838
HP:0000505	Visual impairment	1493	CTLA4	ORPHA:900
HP:0000505	Visual impairment	3115	HLA-DPB1	ORPHA:900
HP:0000505	Visual impairment	5657	PRTN3	ORPHA:900
HP:0000505	Visual impairment	3113	HLA-DPA1	ORPHA:900
HP:0000505	Visual impairment	643226	GRXCR2	OMIM:615837
HP:0000505	Visual impairment	4094	MAF	ORPHA:1272
HP:0000505	Visual impairment	2934	GSN	ORPHA:85448
HP:0000505	Visual impairment	5591	PRKDC	OMIM:615966
HP:0000505	Visual impairment	63895	PIEZO2	ORPHA:1154
HP:0000505	Visual impairment	51128	SAR1B	ORPHA:71
HP:0000505	Visual impairment	760	CA2	OMIM:259730
HP:0000505	Visual impairment	8573	CASK	ORPHA:163937
HP:0000505	Visual impairment	3954	LETM1	OMIM:620089
HP:0000505	Visual impairment	117581	TWIST2	ORPHA:920
HP:0000505	Visual impairment	28962	OSTM1	OMIM:259720
HP:0000505	Visual impairment	8943	AP3D1	ORPHA:54
HP:0000505	Visual impairment	8943	AP3D1	ORPHA:1000
HP:0000505	Visual impairment	9230	RAB11B	OMIM:617807
HP:0000505	Visual impairment	1545	CYP1B1	ORPHA:98977
HP:0000505	Visual impairment	4653	MYOC	ORPHA:98977
HP:0000505	Visual impairment	2335	FN1	ORPHA:93315
HP:0000505	Visual impairment	54585	LZTFL1	OMIM:615994
HP:0000505	Visual impairment	22845	DOLK	ORPHA:91131
HP:0000505	Visual impairment	9131	AIFM1	ORPHA:83629
HP:0000505	Visual impairment	10229	COQ7	OMIM:616733
HP:0000505	Visual impairment	10413	YAP1	ORPHA:1473
HP:0000505	Visual impairment	10320	IKZF1	ORPHA:36426
HP:0000505	Visual impairment	2068	ERCC2	ORPHA:1466
HP:0000505	Visual impairment	2073	ERCC5	ORPHA:1466
HP:0000505	Visual impairment	6659	SOX4	ORPHA:1465
HP:0000505	Visual impairment	5977	DPF2	ORPHA:1465
HP:0000505	Visual impairment	6601	SMARCC2	ORPHA:1465
HP:0000505	Visual impairment	6602	SMARCD1	ORPHA:1465
HP:0000505	Visual impairment	196528	ARID2	ORPHA:1465
HP:0000505	Visual impairment	6664	SOX11	ORPHA:1465
HP:0000505	Visual impairment	4915	NTRK2	OMIM:617830
HP:0000505	Visual impairment	23322	RPGRIP1L	ORPHA:1454
HP:0000505	Visual impairment	55644	OSGEP	OMIM:617729
HP:0000505	Visual impairment	57572	DOCK6	OMIM:614219
HP:0000505	Visual impairment	9842	PLEKHM1	ORPHA:210110
HP:0000505	Visual impairment	112858	TP53RK	OMIM:617730
HP:0000505	Visual impairment	51501	HIKESHI	OMIM:616881
HP:0000505	Visual impairment	1213	CLTC	OMIM:617854
HP:0000505	Visual impairment	4659	PPP1R12A	OMIM:618820
HP:0000505	Visual impairment	56270	WDR45B	OMIM:617977
HP:0000505	Visual impairment	4714	NDUFB8	ORPHA:70474
HP:0000505	Visual impairment	9997	SCO2	ORPHA:70474
HP:0000505	Visual impairment	6834	SURF1	ORPHA:70474
HP:0000505	Visual impairment	3931	LCAT	ORPHA:79292
HP:0000505	Visual impairment	54676	GTPBP2	OMIM:617988
HP:0000505	Visual impairment	5422	POLA1	OMIM:301220
HP:0000505	Visual impairment	3920	LAMP2	OMIM:300257
HP:0000505	Visual impairment	119559	SFXN4	OMIM:615578
HP:0000505	Visual impairment	2990	GUSB	OMIM:253220
HP:0000505	Visual impairment	8777	MPDZ	OMIM:615219
HP:0000505	Visual impairment	85378	TUBGCP6	ORPHA:2518
HP:0000505	Visual impairment	85378	TUBGCP6	OMIM:251270
HP:0000505	Visual impairment	51294	PCDH12	OMIM:251280
HP:0000505	Visual impairment	5430	POLR2A	OMIM:618603
HP:0000505	Visual impairment	23592	LEMD3	ORPHA:1306
HP:0000505	Visual impairment	22861	NLRP1	OMIM:615225
HP:0000505	Visual impairment	6736	SRY	ORPHA:1772
HP:0000505	Visual impairment	406932	MIR140	OMIM:618618
HP:0000505	Visual impairment	55753	OGDHL	OMIM:619701
HP:0000505	Visual impairment	3735	KARS1	OMIM:619196
HP:0000505	Visual impairment	1121	CHM	OMIM:303100
HP:0000505	Visual impairment	1121	CHM	ORPHA:180
HP:0000505	Visual impairment	11277	TREX1	OMIM:192315
HP:0000505	Visual impairment	157657	CFAP418	OMIM:614500
HP:0000505	Visual impairment	3426	CFI	OMIM:615439
HP:0000505	Visual impairment	11340	EXOSC8	ORPHA:2254
HP:0000505	Visual impairment	5393	EXOSC9	ORPHA:2254
HP:0000505	Visual impairment	23287	AGTPBP1	ORPHA:2254
HP:0000505	Visual impairment	51010	EXOSC3	ORPHA:2254
HP:0000505	Visual impairment	7443	VRK1	ORPHA:2254
HP:0000505	Visual impairment	91137	SLC25A46	ORPHA:2254
HP:0000505	Visual impairment	91137	SLC25A46	OMIM:616505
HP:0000505	Visual impairment	6247	RS1	OMIM:312700
HP:0000505	Visual impairment	1308	COL17A1	ORPHA:293381
HP:0000505	Visual impairment	4758	NEU1	OMIM:256550
HP:0000505	Visual impairment	4758	NEU1	ORPHA:812
HP:0000505	Visual impairment	54982	CLN6	OMIM:601780
HP:0000505	Visual impairment	10908	PNPLA6	OMIM:215470
HP:0000505	Visual impairment	4036	LRP2	OMIM:222448
HP:0000505	Visual impairment	4036	LRP2	ORPHA:2143
HP:0000505	Visual impairment	6452	SH3BP2	ORPHA:184
HP:0000505	Visual impairment	5961	PRPH2	ORPHA:52427
HP:0000505	Visual impairment	6017	RLBP1	ORPHA:52427
HP:0000505	Visual impairment	6017	RLBP1	ORPHA:85128
HP:0000505	Visual impairment	6010	RHO	ORPHA:52427
HP:0000505	Visual impairment	5959	RDH5	ORPHA:52427
HP:0000505	Visual impairment	9742	IFT140	OMIM:617781
HP:0000505	Visual impairment	478	ATP1A3	OMIM:601338
HP:0000505	Visual impairment	79587	CARS2	ORPHA:477774
HP:0000505	Visual impairment	92211	CDHR1	OMIM:613660
HP:0000505	Visual impairment	3075	CFH	OMIM:126700
HP:0000505	Visual impairment	4221	MEN1	ORPHA:2965
HP:0000505	Visual impairment	9049	AIP	ORPHA:2965
HP:0000505	Visual impairment	10461	MERTK	OMIM:613862
HP:0000505	Visual impairment	1200	TPP1	OMIM:204500
HP:0000505	Visual impairment	6314	ATXN7	OMIM:164500
HP:0000505	Visual impairment	348	APOE	OMIM:603075
HP:0000505	Visual impairment	83872	HMCN1	OMIM:603075
HP:0000505	Visual impairment	3078	CFHR1	OMIM:603075
HP:0000505	Visual impairment	10878	CFHR3	OMIM:603075
HP:0000505	Visual impairment	50964	SOST	OMIM:122860
HP:0000505	Visual impairment	4942	OAT	ORPHA:414
HP:0000505	Visual impairment	403	ARL3	OMIM:618161
HP:0000505	Visual impairment	5264	PHYH	ORPHA:773
HP:0000505	Visual impairment	5191	PEX7	ORPHA:773
HP:0000505	Visual impairment	7345	UCHL1	OMIM:615491
HP:0000505	Visual impairment	6651	SON	ORPHA:500150
HP:0000505	Visual impairment	5631	PRPS1	OMIM:311070
HP:0000505	Visual impairment	64218	SEMA4A	OMIM:610283
HP:0000505	Visual impairment	5538	PPT1	OMIM:256730
HP:0000505	Visual impairment	79797	ZNF408	OMIM:616468
HP:0000505	Visual impairment	1203	CLN5	OMIM:256731
HP:0000505	Visual impairment	2058	EPRS1	OMIM:617951
HP:0000505	Visual impairment	8792	TNFRSF11A	OMIM:612301
HP:0000505	Visual impairment	1634	DCN	OMIM:610048
HP:0000505	Visual impairment	1201	CLN3	ORPHA:228346
HP:0000505	Visual impairment	1201	CLN3	OMIM:204200
HP:0000505	Visual impairment	2055	CLN8	ORPHA:1947
HP:0000505	Visual impairment	2055	CLN8	OMIM:600143
HP:0000505	Visual impairment	2978	GUCA1A	OMIM:602093
HP:0000505	Visual impairment	285440	CYP4V2	OMIM:210370
HP:0000505	Visual impairment	4547	MTTP	ORPHA:14
HP:0000505	Visual impairment	83636	C19orf12	OMIM:614298
HP:0000505	Visual impairment	51109	RDH11	ORPHA:436245
HP:0000505	Visual impairment	80781	COL18A1	ORPHA:1571
HP:0000505	Visual impairment	5062	PAK2	ORPHA:1571
HP:0000505	Visual impairment	57670	KIAA1549	OMIM:618613
HP:0000505	Visual impairment	5130	PCYT1A	OMIM:608940
HP:0000505	Visual impairment	26146	TRAF3IP1	ORPHA:3156
HP:0000505	Visual impairment	9657	IQCB1	ORPHA:3156
HP:0000505	Visual impairment	10806	SDCCAG8	ORPHA:3156
HP:0000505	Visual impairment	27130	INVS	ORPHA:3156
HP:0000505	Visual impairment	80184	CEP290	ORPHA:3156
HP:0000505	Visual impairment	4867	NPHP1	ORPHA:3156
HP:0000505	Visual impairment	261734	NPHP4	ORPHA:3156
HP:0000505	Visual impairment	57728	WDR19	ORPHA:3156
HP:0000505	Visual impairment	27031	NPHP3	ORPHA:3156
HP:0000505	Visual impairment	22897	CEP164	ORPHA:3156
HP:0000505	Visual impairment	4976	OPA1	OMIM:210000
HP:0000505	Visual impairment	4976	OPA1	ORPHA:1215
HP:0000505	Visual impairment	4763	NF1	ORPHA:97685
HP:0000505	Visual impairment	7045	TGFBI	OMIM:122200
HP:0000505	Visual impairment	4564	MT-TH	ORPHA:550
HP:0000505	Visual impairment	84627	ZNF469	OMIM:229200
HP:0000505	Visual impairment	84627	ZNF469	ORPHA:90354
HP:0000505	Visual impairment	79581	SLC52A2	OMIM:614707
HP:0000505	Visual impairment	79848	CSPP1	ORPHA:397715
HP:0000505	Visual impairment	9786	KIAA0586	ORPHA:397715
HP:0000505	Visual impairment	4312	MMP1	ORPHA:79408
HP:0000505	Visual impairment	1294	COL7A1	ORPHA:79408
HP:0000505	Visual impairment	1294	COL7A1	ORPHA:89842
HP:0000505	Visual impairment	79644	SRD5A3	OMIM:612379
HP:0000505	Visual impairment	79644	SRD5A3	ORPHA:324737
HP:0000505	Visual impairment	153241	CEP120	ORPHA:220493
HP:0000505	Visual impairment	54903	MKS1	ORPHA:220493
HP:0000505	Visual impairment	95681	CEP41	ORPHA:220493
HP:0000505	Visual impairment	10560	SLC19A2	ORPHA:49827
HP:0000505	Visual impairment	10560	SLC19A2	OMIM:249270
HP:0000505	Visual impairment	154881	KCTD7	OMIM:611726
HP:0000505	Visual impairment	9512	PMPCB	OMIM:617954
HP:0000505	Visual impairment	10342	TFG	OMIM:615658
HP:0000505	Visual impairment	9326	ZNHIT3	ORPHA:2836
HP:0000505	Visual impairment	1509	CTSD	OMIM:610127
HP:0000505	Visual impairment	4047	LSS	OMIM:616509
HP:0000505	Visual impairment	6898	TAT	ORPHA:28378
HP:0000505	Visual impairment	80216	ALPK1	OMIM:614979
HP:0000505	Visual impairment	4854	NOTCH3	OMIM:125310
HP:0000505	Visual impairment	10804	GJB6	ORPHA:477
HP:0000505	Visual impairment	2296	FOXC1	ORPHA:250923
HP:0000505	Visual impairment	6711	SPTBN1	OMIM:619475
HP:0000505	Visual impairment	57105	CYSLTR2	ORPHA:39044
HP:0000505	Visual impairment	2767	GNA11	ORPHA:39044
HP:0000505	Visual impairment	23451	SF3B1	ORPHA:39044
HP:0000505	Visual impairment	2624	GATA2	ORPHA:3226
HP:0000505	Visual impairment	10319	LAMC3	OMIM:614115
HP:0000505	Visual impairment	11107	PRDM5	ORPHA:90354
HP:0000505	Visual impairment	7428	VHL	ORPHA:892
HP:0000505	Visual impairment	595	CCND1	ORPHA:892
HP:0000505	Visual impairment	4053	LTBP2	ORPHA:3449
HP:0000505	Visual impairment	4053	LTBP2	ORPHA:98976
HP:0000505	Visual impairment	3295	HSD17B4	OMIM:261515
HP:0000505	Visual impairment	63916	ELMO2	OMIM:606893
HP:0000505	Visual impairment	64127	NOD2	ORPHA:90340
HP:0000505	Visual impairment	3030	HADHA	ORPHA:5
HP:0000505	Visual impairment	7957	EPM2A	OMIM:254780
HP:0000505	Visual impairment	378884	NHLRC1	OMIM:254780
HP:0000505	Visual impairment	7010	TEK	ORPHA:98976
HP:0000505	Visual impairment	1462	VCAN	OMIM:143200
HP:0000505	Visual impairment	10083	USH1C	ORPHA:231169
HP:0000505	Visual impairment	124590	USH1G	ORPHA:231169
HP:0000505	Visual impairment	83715	ESPN	ORPHA:231169
HP:0000505	Visual impairment	10518	CIB2	ORPHA:231169
HP:0000505	Visual impairment	4647	MYO7A	ORPHA:231169
HP:0000505	Visual impairment	4647	MYO7A	ORPHA:231178
HP:0000505	Visual impairment	65217	PCDH15	ORPHA:231169
HP:0000505	Visual impairment	79955	PDZD7	ORPHA:231178
HP:0000505	Visual impairment	25861	WHRN	ORPHA:231178
HP:0000505	Visual impairment	84059	ADGRV1	ORPHA:231178
HP:0000505	Visual impairment	26504	CNNM4	OMIM:217080
HP:0000505	Visual impairment	686	BTD	ORPHA:79241
HP:0000505	Visual impairment	22901	ARSG	ORPHA:231183
HP:0000505	Visual impairment	3035	HARS1	ORPHA:231183
HP:0000505	Visual impairment	84131	CEP78	ORPHA:231183
HP:0000505	Visual impairment	773	CACNA1A	ORPHA:569
HP:0000505	Visual impairment	112476	PRRT2	ORPHA:569
HP:0000505	Visual impairment	477	ATP1A2	ORPHA:569
HP:0000505	Visual impairment	114902	C1QTNF5	OMIM:605670
HP:0000505	Visual impairment	4539	MT-ND4L	OMIM:535000
HP:0000505	Visual impairment	4539	MT-ND4L	ORPHA:104
HP:0000505	Visual impairment	4538	MT-ND4	OMIM:535000
HP:0000505	Visual impairment	4538	MT-ND4	ORPHA:104
HP:0000505	Visual impairment	1497	CTNS	OMIM:219800
HP:0000505	Visual impairment	26121	PRPF31	OMIM:600138
HP:0000505	Visual impairment	26121	PRPF31	ORPHA:791
HP:0000505	Visual impairment	92840	REEP6	ORPHA:791
HP:0000505	Visual impairment	6094	ROM1	ORPHA:791
HP:0000505	Visual impairment	7401	CLRN1	ORPHA:791
HP:0000505	Visual impairment	24	ABCA4	ORPHA:791
HP:0000505	Visual impairment	130557	ZNF513	ORPHA:791
HP:0000505	Visual impairment	582	BBS1	ORPHA:791
HP:0000505	Visual impairment	23568	ARL2BP	ORPHA:791
HP:0000505	Visual impairment	6121	RPE65	ORPHA:791
HP:0000505	Visual impairment	6121	RPE65	OMIM:204100
HP:0000505	Visual impairment	54806	AHI1	ORPHA:791
HP:0000505	Visual impairment	6101	RP1	ORPHA:791
HP:0000505	Visual impairment	3419	IDH3A	ORPHA:791
HP:0000505	Visual impairment	4751	NEK2	ORPHA:791
HP:0000505	Visual impairment	346007	EYS	ORPHA:791
HP:0000505	Visual impairment	8100	IFT88	ORPHA:791
HP:0000505	Visual impairment	23020	SNRNP200	ORPHA:791
HP:0000505	Visual impairment	762	CA4	ORPHA:791
HP:0000505	Visual impairment	138050	HGSNAT	ORPHA:791
HP:0000505	Visual impairment	196	AHR	ORPHA:791
HP:0000505	Visual impairment	3614	IMPDH1	ORPHA:791
HP:0000505	Visual impairment	123016	TTC8	ORPHA:791
HP:0000505	Visual impairment	6103	RPGR	ORPHA:791
HP:0000505	Visual impairment	1406	CRX	ORPHA:791
HP:0000505	Visual impairment	1406	CRX	OMIM:120970
HP:0000505	Visual impairment	5148	PDE6G	ORPHA:791
HP:0000505	Visual impairment	26160	IFT172	ORPHA:791
HP:0000505	Visual impairment	583	BBS2	ORPHA:791
HP:0000505	Visual impairment	4117	MAK	ORPHA:791
HP:0000505	Visual impairment	25794	FSCN2	ORPHA:791
HP:0000505	Visual impairment	375298	CERKL	ORPHA:791
HP:0000505	Visual impairment	3420	IDH3B	ORPHA:791
HP:0000505	Visual impairment	7275	TUB	ORPHA:791
HP:0000505	Visual impairment	24148	PRPF6	ORPHA:791
HP:0000505	Visual impairment	23418	CRB1	ORPHA:791
HP:0000505	Visual impairment	57709	SLC7A14	ORPHA:791
HP:0000505	Visual impairment	768206	PRCD	ORPHA:791
HP:0000505	Visual impairment	7399	USH2A	ORPHA:791
HP:0000505	Visual impairment	23370	ARHGEF18	ORPHA:791
HP:0000505	Visual impairment	5949	RBP3	ORPHA:791
HP:0000505	Visual impairment	6100	RP9	ORPHA:791
HP:0000505	Visual impairment	10002	NR2E3	ORPHA:791
HP:0000505	Visual impairment	9227	LRAT	ORPHA:791
HP:0000505	Visual impairment	84140	FAM161A	ORPHA:791
HP:0000505	Visual impairment	55812	SPATA7	ORPHA:791
HP:0000505	Visual impairment	55624	POMGNT1	ORPHA:791
HP:0000505	Visual impairment	55624	POMGNT1	ORPHA:370959
HP:0000505	Visual impairment	5145	PDE6A	ORPHA:791
HP:0000505	Visual impairment	10210	TOPORS	ORPHA:791
HP:0000505	Visual impairment	8842	PROM1	ORPHA:791
HP:0000505	Visual impairment	9128	PRPF4	ORPHA:791
HP:0000505	Visual impairment	145226	RDH12	ORPHA:791
HP:0000505	Visual impairment	8481	OFD1	ORPHA:791
HP:0000505	Visual impairment	49855	SCAPER	ORPHA:791
HP:0000505	Visual impairment	2979	GUCA1B	ORPHA:791
HP:0000505	Visual impairment	1259	CNGA1	ORPHA:791
HP:0000505	Visual impairment	1258	CNGB1	ORPHA:791
HP:0000505	Visual impairment	60509	AGBL5	ORPHA:791
HP:0000505	Visual impairment	388939	PCARE	ORPHA:791
HP:0000505	Visual impairment	7439	BEST1	ORPHA:791
HP:0000505	Visual impairment	7439	BEST1	OMIM:193220
HP:0000505	Visual impairment	9785	DHX38	ORPHA:791
HP:0000505	Visual impairment	7287	TULP1	ORPHA:791
HP:0000505	Visual impairment	5995	RGR	ORPHA:791
HP:0000505	Visual impairment	9129	PRPF3	ORPHA:791
HP:0000505	Visual impairment	55975	KLHL7	ORPHA:791
HP:0000505	Visual impairment	94137	RP1L1	ORPHA:791
HP:0000505	Visual impairment	5158	PDE6B	ORPHA:791
HP:0000505	Visual impairment	6102	RP2	ORPHA:791
HP:0000505	Visual impairment	55857	KIZ	ORPHA:791
HP:0000505	Visual impairment	4901	NRL	ORPHA:791
HP:0000505	Visual impairment	4901	NRL	OMIM:613750
HP:0000505	Visual impairment	10594	PRPF8	ORPHA:791
HP:0000505	Visual impairment	84100	ARL6	ORPHA:791
HP:0000505	Visual impairment	6295	SAG	ORPHA:791
HP:0000505	Visual impairment	79947	DHDDS	ORPHA:791
HP:0000505	Visual impairment	25915	NDUFAF3	ORPHA:2609
HP:0000505	Visual impairment	91942	NDUFAF2	ORPHA:2609
HP:0000505	Visual impairment	51300	TIMMDC1	ORPHA:2609
HP:0000505	Visual impairment	4716	NDUFB10	ORPHA:2609
HP:0000505	Visual impairment	4723	NDUFV1	ORPHA:2609
HP:0000505	Visual impairment	4723	NDUFV1	OMIM:618225
HP:0000505	Visual impairment	284184	NDUFAF8	ORPHA:2609
HP:0000505	Visual impairment	55863	TMEM126B	ORPHA:2609
HP:0000505	Visual impairment	4537	MT-ND3	ORPHA:2609
HP:0000505	Visual impairment	4729	NDUFV2	ORPHA:2609
HP:0000505	Visual impairment	4694	NDUFA1	ORPHA:2609
HP:0000505	Visual impairment	4720	NDUFS2	ORPHA:2609
HP:0000505	Visual impairment	4724	NDUFS4	ORPHA:2609
HP:0000505	Visual impairment	4724	NDUFS4	OMIM:252010
HP:0000505	Visual impairment	4726	NDUFS6	ORPHA:2609
HP:0000505	Visual impairment	4728	NDUFS8	ORPHA:2609
HP:0000505	Visual impairment	4722	NDUFS3	ORPHA:2609
HP:0000505	Visual impairment	79133	NDUFAF5	ORPHA:2609
HP:0000505	Visual impairment	126328	NDUFA11	ORPHA:2609
HP:0000505	Visual impairment	4709	NDUFB3	ORPHA:2609
HP:0000505	Visual impairment	80224	NUBPL	ORPHA:2609
HP:0000505	Visual impairment	29078	NDUFAF4	ORPHA:2609
HP:0000505	Visual impairment	374291	NDUFS7	ORPHA:2609
HP:0000505	Visual impairment	4700	NDUFA6	ORPHA:2609
HP:0000505	Visual impairment	4536	MT-ND2	ORPHA:2609
HP:0000505	Visual impairment	4719	NDUFS1	ORPHA:2609
HP:0000505	Visual impairment	4715	NDUFB9	ORPHA:2609
HP:0000505	Visual impairment	341640	FREM2	ORPHA:2052
HP:0000505	Visual impairment	80144	FRAS1	ORPHA:2052
HP:0000505	Visual impairment	80144	FRAS1	OMIM:219000
HP:0000505	Visual impairment	23426	GRIP1	ORPHA:2052
HP:0000505	Visual impairment	5351	PLOD1	OMIM:225400
HP:0000505	Visual impairment	80207	OPA3	ORPHA:67036
HP:0000505	Visual impairment	2778	GNAS	OMIM:174800
HP:0000505	Visual impairment	51569	UFM1	OMIM:617899
HP:0000505	Visual impairment	10312	TCIRG1	OMIM:259700
HP:0000505	Visual impairment	54820	NDE1	ORPHA:2177
HP:0000505	Visual impairment	5309	PITX3	OMIM:610623
HP:0000505	Visual impairment	23126	POGZ	ORPHA:468678
HP:0000505	Visual impairment	3073	HEXA	OMIM:272800
HP:0000505	Visual impairment	6720	SREBF1	OMIM:158310
HP:0000505	Visual impairment	4552	MTRR	OMIM:236270
HP:0000505	Visual impairment	2581	GALC	ORPHA:206443
HP:0000505	Visual impairment	2581	GALC	ORPHA:206436
HP:0000505	Visual impairment	2581	GALC	OMIM:245200
HP:0000505	Visual impairment	57465	TBC1D24	OMIM:220500
HP:0000505	Visual impairment	3074	HEXB	OMIM:268800
HP:0000505	Visual impairment	9915	ARNT2	OMIM:615926
HP:0000505	Visual impairment	443	ASPA	ORPHA:314911
HP:0000505	Visual impairment	443	ASPA	OMIM:271900
HP:0000505	Visual impairment	2720	GLB1	ORPHA:79255
HP:0000505	Visual impairment	29954	POMT2	OMIM:236670
HP:0000505	Visual impairment	29954	POMT2	ORPHA:370959
HP:0000505	Visual impairment	9215	LARGE1	OMIM:236670
HP:0000505	Visual impairment	79147	FKRP	OMIM:236670
HP:0000505	Visual impairment	79147	FKRP	ORPHA:370959
HP:0000505	Visual impairment	10585	POMT1	OMIM:236670
HP:0000505	Visual impairment	10585	POMT1	ORPHA:370959
HP:0000505	Visual impairment	2218	FKTN	OMIM:236670
HP:0000505	Visual impairment	215	ABCD1	ORPHA:139396
HP:0000505	Visual impairment	215	ABCD1	OMIM:300100
HP:0000505	Visual impairment	5190	PEX6	ORPHA:95433
HP:0000505	Visual impairment	9361	LONP1	ORPHA:79243
HP:0000505	Visual impairment	5160	PDHA1	ORPHA:79243
HP:0000505	Visual impairment	8398	PLA2G6	ORPHA:35069
HP:0000505	Visual impairment	7840	ALMS1	OMIM:203800
HP:0000505	Visual impairment	7840	ALMS1	ORPHA:64
HP:0000505	Visual impairment	546	ATRX	ORPHA:847
HP:0000505	Visual impairment	3913	LAMB2	OMIM:609049
HP:0000505	Visual impairment	79583	TMEM231	ORPHA:2318
HP:0000505	Visual impairment	51524	TMEM138	ORPHA:2318
HP:0000505	Visual impairment	23090	ZNF423	ORPHA:2318
HP:0000505	Visual impairment	51259	TMEM216	ORPHA:2318
HP:0000505	Visual impairment	23746	AIPL1	OMIM:604393
HP:0000505	Visual impairment	7389	UROD	ORPHA:95159
HP:0000505	Visual impairment	60	ACTB	ORPHA:79107
HP:0000505	Visual impairment	1001	CDH3	OMIM:601553
HP:0000505	Visual impairment	1001	CDH3	ORPHA:1573
HP:0000505	Visual impairment	652	BMP4	OMIM:607932
HP:0000505	Visual impairment	114548	NLRP3	ORPHA:1451
HP:0000505	Visual impairment	5230	PGK1	ORPHA:713
HP:0000505	Visual impairment	4548	MTR	OMIM:250940
HP:0000505	Visual impairment	56244	BTNL2	ORPHA:797
HP:0000505	Visual impairment	3123	HLA-DRB1	ORPHA:797
HP:0000505	Visual impairment	28982	FLVCR1	OMIM:609033
HP:0000505	Visual impairment	81794	ADAMTS10	OMIM:277600
HP:0000505	Visual impairment	3028	HSD17B10	ORPHA:391428
HP:0000505	Visual impairment	8260	NAA10	OMIM:309800
HP:0000505	Visual impairment	54880	BCOR	OMIM:309800
HP:0000505	Visual impairment	3257	HPS1	OMIM:203300
HP:0000505	Visual impairment	1280	COL2A1	OMIM:108300
HP:0000505	Visual impairment	29925	GMPPB	ORPHA:370959
HP:0000505	Visual impairment	84197	POMK	ORPHA:370959
HP:0000505	Visual impairment	726	CAPN5	OMIM:193235
HP:0000505	Visual impairment	7078	TIMP3	OMIM:136900
HP:0000505	Visual impairment	7078	TIMP3	ORPHA:59181
HP:0000505	Visual impairment	11041	B4GAT1	OMIM:615287
HP:0000505	Visual impairment	2232	FDXR	ORPHA:543470
HP:0000505	Visual impairment	5627	PROS1	OMIM:614514
HP:0000505	Visual impairment	5340	PLG	OMIM:217090
HP:0000505	Visual impairment	256471	MFSD8	OMIM:610951
HP:0000505	Visual impairment	2811	GP1BA	ORPHA:853
HP:0000505	Visual impairment	2812	GP1BB	ORPHA:853
HP:0000505	Visual impairment	3674	ITGA2B	ORPHA:853
HP:0000505	Visual impairment	3673	ITGA2	ORPHA:853
HP:0000505	Visual impairment	135228	CD109	ORPHA:853
HP:0000505	Visual impairment	3690	ITGB3	ORPHA:853
HP:0000505	Visual impairment	5296	PIK3R2	OMIM:603387
HP:0000505	Visual impairment	23554	TSPAN12	ORPHA:891
HP:0000505	Visual impairment	10084	PQBP1	OMIM:309500
HP:0000505	Visual impairment	80025	PANK2	ORPHA:216873
HP:0000505	Visual impairment	80025	PANK2	ORPHA:216866
HP:0000505	Visual impairment	6389	SDHA	ORPHA:3208
HP:0000505	Visual impairment	6390	SDHB	ORPHA:3208
HP:0000505	Visual impairment	6392	SDHD	ORPHA:3208
HP:0000505	Visual impairment	644096	SDHAF1	ORPHA:3208
HP:0000505	Visual impairment	9928	KIF14	OMIM:617914
HP:0000505	Visual impairment	91147	TMEM67	OMIM:610688
HP:0000505	Visual impairment	5660	PSAP	ORPHA:206436
HP:0000505	Visual impairment	2072	ERCC4	OMIM:610965
HP:0000505	Visual impairment	2776	GNAQ	ORPHA:3205
HP:0000505	Visual impairment	1967	EIF2B1	OMIM:603896
HP:0000505	Visual impairment	1186	CLCN7	ORPHA:53
HP:0000505	Visual impairment	148789	B3GALNT2	OMIM:615181
HP:0000505	Visual impairment	1387	CREBBP	OMIM:618332
HP:0000505	Visual impairment	57647	DHX37	OMIM:618731
HP:0000505	Visual impairment	80169	CTC1	OMIM:612199
HP:0000505	Visual impairment	3000	GUCY2D	OMIM:204000
HP:0000505	Visual impairment	2706	GJB2	OMIM:148210
HP:0000505	Visual impairment	7390	UROS	ORPHA:79277
HP:0000505	Visual impairment	2623	GATA1	ORPHA:79277
HP:0000505	Visual impairment	2760	GM2A	OMIM:272750
HP:0000505	Visual impairment	8600	TNFSF11	OMIM:259710
HP:0000505	Visual impairment	149233	IL23R	ORPHA:117
HP:0000505	Visual impairment	6775	STAT4	ORPHA:117
HP:0000505	Visual impairment	3586	IL10	ORPHA:117
HP:0000505	Visual impairment	4210	MEFV	ORPHA:117
HP:0000505	Visual impairment	1230	CCR1	ORPHA:117
HP:0000505	Visual impairment	355	FAS	ORPHA:117
HP:0000505	Visual impairment	3592	IL12A	ORPHA:117
HP:0000505	Visual impairment	101928376	IL12A-AS1	ORPHA:117
HP:0000505	Visual impairment	3106	HLA-B	ORPHA:117
HP:0000505	Visual impairment	7099	TLR4	ORPHA:117
HP:0000505	Visual impairment	3459	IFNGR1	ORPHA:117
HP:0000505	Visual impairment	720	C4A	ORPHA:117
HP:0000505	Visual impairment	337867	UBAC2	ORPHA:117
HP:0000505	Visual impairment	51752	ERAP1	ORPHA:117
HP:0000505	Visual impairment	8302	KLRC4	ORPHA:117
HP:0000505	Visual impairment	64132	XYLT2	OMIM:605822
HP:0000505	Visual impairment	7291	TWIST1	ORPHA:794
HP:0000505	Visual impairment	2263	FGFR2	ORPHA:794
HP:0000505	Visual impairment	2263	FGFR2	ORPHA:93260
HP:0000505	Visual impairment	2263	FGFR2	ORPHA:207
HP:0000505	Visual impairment	2261	FGFR3	ORPHA:794
HP:0000505	Visual impairment	2261	FGFR3	OMIM:602849
HP:0000505	Visual impairment	6095	RORA	OMIM:618060
HP:0000505	Visual impairment	22827	PUF60	ORPHA:508498
HP:0000505	Visual impairment	1409	CRYAA	OMIM:604219
HP:0000505	Visual impairment	875	CBS	ORPHA:394
HP:0000505	Visual impairment	23394	ADNP	ORPHA:404448
HP:0000505	Visual impairment	9759	HDAC4	OMIM:619797
HP:0000505	Visual impairment	8473	OGT	OMIM:300997
HP:0000505	Visual impairment	2200	FBN1	ORPHA:1885
HP:0000505	Visual impairment	54507	ADAMTSL4	ORPHA:1885
HP:0000505	Visual impairment	6334	SCN8A	OMIM:614306
HP:0000505	Visual impairment	22800	RRAS2	OMIM:618624
HP:0000505	Visual impairment	3008	H1-4	OMIM:617537
HP:0000505	Visual impairment	10992	SF3B2	OMIM:164210
HP:0000505	Visual impairment	4693	NDP	ORPHA:91495
HP:0000505	Visual impairment	220202	ATOH7	ORPHA:91495
HP:0000505	Visual impairment	8322	FZD4	ORPHA:91495
HP:0000505	Visual impairment	118987	PDZD8	OMIM:620021
HP:0000505	Visual impairment	84570	COL25A1	ORPHA:91411
HP:0000505	Visual impairment	79776	ZFHX4	ORPHA:91411
HP:0000505	Visual impairment	27125	AFF4	ORPHA:444077
HP:0000505	Visual impairment	4784	NFIX	ORPHA:447980
HP:0000505	Visual impairment	80232	WDR26	ORPHA:513456
HP:0000505	Visual impairment	80232	WDR26	OMIM:617616
HP:0000505	Visual impairment	9578	CDC42BPB	OMIM:619841
HP:0000505	Visual impairment	26610	ELP4	OMIM:617141
HP:0000505	Visual impairment	51506	UFC1	OMIM:618076
HP:0000505	Visual impairment	10730	YME1L1	OMIM:617302
HP:0000505	Visual impairment	6595	SMARCA2	ORPHA:2728
HP:0000505	Visual impairment	3781	KCNN2	OMIM:619724
HP:0000505	Visual impairment	23431	AP4E1	OMIM:613744
HP:0000505	Visual impairment	23431	AP4E1	ORPHA:280763
HP:0000505	Visual impairment	4952	OCRL	ORPHA:534
HP:0000505	Visual impairment	1185	CLCN6	OMIM:619173
HP:0000505	Visual impairment	5080	PAX6	ORPHA:35737
HP:0000505	Visual impairment	57589	RIC1	OMIM:618761
HP:0000505	Visual impairment	10381	TUBB3	OMIM:600638
HP:0000505	Visual impairment	92255	LMBRD2	OMIM:619694
HP:0000505	Visual impairment	10352	WARS2	OMIM:617710
HP:0000505	Visual impairment	10352	WARS2	ORPHA:572798
HP:0000505	Visual impairment	81857	MED25	ORPHA:464738
HP:0000505	Visual impairment	708	C1QBP	OMIM:617713
HP:0000505	Visual impairment	2077	ERF	ORPHA:207
HP:0000505	Visual impairment	646960	PRSS56	OMIM:613517
HP:0000505	Visual impairment	128989	TANGO2	ORPHA:480864
HP:0000505	Visual impairment	54539	NDUFB11	ORPHA:2556
HP:0000505	Visual impairment	1349	COX7B	ORPHA:2556
HP:0000505	Visual impairment	3052	HCCS	ORPHA:2556
HP:0000505	Visual impairment	9241	NOG	OMIM:186500
HP:0000505	Visual impairment	1420	CRYGC	OMIM:604307
HP:0000505	Visual impairment	6899	TBX1	OMIM:188400
HP:0000505	Visual impairment	1301	COL11A1	ORPHA:560
HP:0000505	Visual impairment	1301	COL11A1	ORPHA:250984
HP:0000505	Visual impairment	164	AP1G1	OMIM:619467
HP:0000505	Visual impairment	54681	P4HTM	OMIM:618493
HP:0000505	Visual impairment	57178	ZMIZ1	OMIM:618659
HP:0000505	Visual impairment	23268	DNMBP	OMIM:618415
HP:0000505	Visual impairment	57167	SALL4	ORPHA:233
HP:0000505	Visual impairment	9935	MAFB	ORPHA:233
HP:0000505	Visual impairment	1123	CHN1	ORPHA:233
HP:0000505	Visual impairment	1123	CHN1	OMIM:604356
HP:0000505	Visual impairment	401	PHOX2A	OMIM:602078
HP:0000505	Visual impairment	7025	NR2F1	ORPHA:401777
HP:0000505	Visual impairment	84265	POLR3GL	OMIM:619234
HP:0000505	Visual impairment	23347	SMCHD1	ORPHA:2250
HP:0000505	Visual impairment	6608	SMO	OMIM:601707
HP:0000505	Visual impairment	3982	LIM2	OMIM:615277
HP:0000505	Visual impairment	10367	MICU1	OMIM:615673
HP:0000505	Visual impairment	8364	H4C3	OMIM:619758
HP:0000505	Visual impairment	1282	COL4A1	OMIM:175780
HP:0000505	Visual impairment	8085	KMT2D	OMIM:620186
HP:0000505	Visual impairment	1859	DYRK1A	ORPHA:464311
HP:0000505	Visual impairment	23556	PIGN	ORPHA:280633
HP:0000505	Visual impairment	23556	PIGN	OMIM:614080
HP:0000505	Visual impairment	55617	TASP1	OMIM:618950
HP:0000505	Visual impairment	7204	TRIO	ORPHA:476126
HP:0000505	Visual impairment	79803	HPS6	OMIM:614075
HP:0000505	Visual impairment	284217	LAMA1	OMIM:615960
HP:0000505	Visual impairment	284217	LAMA1	ORPHA:370022
HP:0000505	Visual impairment	3832	KIF11	ORPHA:2526
HP:0000505	Visual impairment	51085	MLXIPL	OMIM:194050
HP:0000505	Visual impairment	2006	ELN	OMIM:194050
HP:0000505	Visual impairment	668	FOXL2	ORPHA:572333
HP:0000505	Visual impairment	2658	GDF2	ORPHA:774
HP:0000505	Visual impairment	94	ACVRL1	ORPHA:774
HP:0000505	Visual impairment	4089	SMAD4	ORPHA:774
HP:0000505	Visual impairment	2022	ENG	ORPHA:774
HP:0000505	Visual impairment	51322	WAC	ORPHA:284169
HP:0000505	Visual impairment	10717	AP4B1	ORPHA:280763
HP:0000505	Visual impairment	9179	AP4M1	ORPHA:280763
HP:0000505	Visual impairment	11154	AP4S1	ORPHA:280763
HP:0000505	Visual impairment	5308	PITX2	OMIM:180550
HP:0000505	Visual impairment	7030	TFE3	OMIM:301066
HP:0000505	Visual impairment	4935	GPR143	OMIM:300814
HP:0000505	Visual impairment	55084	SOBP	OMIM:613671
HP:0000505	Visual impairment	57479	PRR12	OMIM:619539
HP:0000505	Visual impairment	7994	KAT6A	OMIM:616268
HP:0000505	Visual impairment	2316	FLNA	ORPHA:1826
HP:0000505	Visual impairment	6885	MAP3K7	ORPHA:1826
HP:0000505	Visual impairment	9469	CHST3	OMIM:245600
HP:0000505	Visual impairment	26229	B3GAT3	OMIM:245600
HP:0000505	Visual impairment	1804	DPP6	OMIM:616311
HP:0000505	Visual impairment	9181	ARHGEF2	OMIM:617523
HP:0000505	Visual impairment	1297	COL9A1	ORPHA:250984
HP:0000505	Visual impairment	1298	COL9A2	ORPHA:250984
HP:0000505	Visual impairment	1299	COL9A3	ORPHA:250984
HP:0000505	Visual impairment	84695	LOXL3	ORPHA:250984
HP:0000505	Visual impairment	1414	CRYBB1	OMIM:611544
HP:0000505	Visual impairment	4771	NF2	ORPHA:637
HP:0000505	Visual impairment	4352	MPL	ORPHA:71493
HP:0000505	Visual impairment	7066	THPO	ORPHA:71493
HP:0000505	Visual impairment	3717	JAK2	ORPHA:71493
HP:0000505	Visual impairment	51816	ADA2	ORPHA:820
HP:0000505	Visual impairment	4488	MSX2	OMIM:604757
HP:0000505	Visual impairment	84196	USP48	ORPHA:96253
HP:0000505	Visual impairment	9101	USP8	ORPHA:96253
HP:0000505	Visual impairment	2908	NR3C1	ORPHA:96253
HP:0000505	Visual impairment	1181	CLCN2	OMIM:615651
HP:0000505	Visual impairment	55901	THSD1	ORPHA:231160
HP:0000505	Visual impairment	7049	TGFBR3	ORPHA:231160
HP:0000505	Visual impairment	1281	COL3A1	ORPHA:231160
HP:0000505	Visual impairment	83854	ANGPTL6	ORPHA:231160
HP:0000505	Visual impairment	9371	KIF3B	OMIM:618955
HP:0000505	Visual impairment	8565	YARS1	OMIM:619418
HP:0000505	Visual impairment	343035	RD3	ORPHA:65
HP:0000505	Visual impairment	4166	CHST6	ORPHA:98969
HP:0000505	Visual impairment	10195	ALG3	OMIM:601110
HP:0000505	Visual impairment	6809	STX3	OMIM:619446
HP:0000505	Visual impairment	10749	KIF1C	ORPHA:397946
HP:0000505	Visual impairment	10749	KIF1C	OMIM:611302
HP:0000505	Visual impairment	778	CACNA1F	OMIM:300476
HP:0000505	Visual impairment	778	CACNA1F	ORPHA:215
HP:0000505	Visual impairment	778	CACNA1F	ORPHA:178333
HP:0000505	Visual impairment	778	CACNA1F	OMIM:300071
HP:0000505	Visual impairment	4099	MAG	OMIM:616680
HP:0000505	Visual impairment	8294	H4C9	OMIM:619951
HP:0000505	Visual impairment	51102	MECR	ORPHA:508093
HP:0000505	Visual impairment	51102	MECR	OMIM:617282
HP:0000505	Visual impairment	3560	IL2RB	ORPHA:85410
HP:0000505	Visual impairment	79722	ANKRD55	ORPHA:85410
HP:0000505	Visual impairment	26191	PTPN22	ORPHA:85410
HP:0000505	Visual impairment	919	CD247	ORPHA:85410
HP:0000505	Visual impairment	3559	IL2RA	ORPHA:85410
HP:0000505	Visual impairment	5771	PTPN2	ORPHA:85410
HP:0000505	Visual impairment	7299	TYR	OMIM:203100
HP:0000505	Visual impairment	6785	ELOVL4	ORPHA:827
HP:0000505	Visual impairment	6785	ELOVL4	OMIM:600110
HP:0000505	Visual impairment	123263	MTFMT	OMIM:614947
HP:0000505	Visual impairment	146167	SLC38A8	OMIM:609218
HP:0000505	Visual impairment	83959	SLC4A11	ORPHA:293603
HP:0000505	Visual impairment	83959	SLC4A11	OMIM:217400
HP:0000505	Visual impairment	83959	SLC4A11	ORPHA:98974
HP:0000505	Visual impairment	8566	PDXK	OMIM:618511
HP:0000505	Visual impairment	1638	DCT	OMIM:619165
HP:0000505	Visual impairment	755	CFAP410	OMIM:617547
HP:0000505	Visual impairment	27229	TUBGCP4	OMIM:616335
HP:0000505	Visual impairment	169522	KCNV2	OMIM:610356
HP:0000505	Visual impairment	93589	CACNA2D4	OMIM:610478
HP:0000505	Visual impairment	93589	CACNA2D4	ORPHA:215
HP:0000505	Visual impairment	63915	BLOC1S5	OMIM:619172
HP:0000505	Visual impairment	410	ARSA	ORPHA:309271
HP:0000505	Visual impairment	410	ARSA	ORPHA:309263
HP:0000505	Visual impairment	410	ARSA	ORPHA:309256
HP:0000505	Visual impairment	1738	DLD	ORPHA:2394
HP:0000505	Visual impairment	9364	RAB28	OMIM:615374
HP:0000505	Visual impairment	283652	SLC24A5	OMIM:113750
HP:0000505	Visual impairment	283652	SLC24A5	ORPHA:370097
HP:0000505	Visual impairment	64834	ELOVL1	OMIM:618527
HP:0000505	Visual impairment	7123	CLEC3B	OMIM:619977
HP:0000505	Visual impairment	79140	CCDC28B	OMIM:209900
HP:0000505	Visual impairment	54675	CRLS1	OMIM:620167
HP:0000505	Visual impairment	8546	AP3B1	OMIM:608233
HP:0000505	Visual impairment	90167	FRMD7	OMIM:310700
HP:0000505	Visual impairment	157680	VPS13B	OMIM:216550
HP:0000505	Visual impairment	1130	LYST	ORPHA:167
HP:0000505	Visual impairment	1130	LYST	OMIM:214500
HP:0000505	Visual impairment	55714	TENM3	OMIM:615145
HP:0000505	Visual impairment	5833	PCYT2	OMIM:618770
HP:0000505	Visual impairment	7466	WFS1	OMIM:614296
HP:0000505	Visual impairment	246243	RNASEH1	OMIM:616479
HP:0000505	Visual impairment	5950	RBP4	OMIM:615147
HP:0000505	Visual impairment	2301	FOXE3	OMIM:610256
HP:0000505	Visual impairment	2201	FBN2	OMIM:616118
HP:0000505	Visual impairment	2395	FXN	ORPHA:95
HP:0000505	Visual impairment	2395	FXN	OMIM:229300
HP:0000505	Visual impairment	11081	KERA	OMIM:217300
HP:0000505	Visual impairment	5146	PDE6C	OMIM:613093
HP:0000505	Visual impairment	5146	PDE6C	ORPHA:49382
HP:0000505	Visual impairment	83394	PITPNM3	OMIM:600977
HP:0000505	Visual impairment	91574	MTRFR	OMIM:615035
HP:0000505	Visual impairment	91574	MTRFR	ORPHA:320375
HP:0000505	Visual impairment	5956	OPN1LW	OMIM:303700
HP:0000505	Visual impairment	2652	OPN1MW	OMIM:303700
HP:0000505	Visual impairment	3769	KCNJ13	OMIM:614186
HP:0000505	Visual impairment	5149	PDE6H	OMIM:610024
HP:0000505	Visual impairment	5149	PDE6H	ORPHA:49382
HP:0000505	Visual impairment	23503	ZFYVE26	OMIM:270700
HP:0000505	Visual impairment	402	ARL2	OMIM:619082
HP:0000505	Visual impairment	89781	HPS4	OMIM:614073
HP:0000505	Visual impairment	11234	HPS5	OMIM:614074
HP:0000505	Visual impairment	368	ABCC6	OMIM:177850
HP:0000505	Visual impairment	368	ABCC6	OMIM:264800
HP:0000505	Visual impairment	84343	HPS3	OMIM:614072
HP:0000505	Visual impairment	388552	BLOC1S3	OMIM:614077
HP:0000505	Visual impairment	84062	DTNBP1	OMIM:614076
HP:0000505	Visual impairment	3859	KRT12	OMIM:122100
HP:0000505	Visual impairment	56623	INPP5E	OMIM:610156
HP:0000505	Visual impairment	11261	CHP1	OMIM:618438
HP:0000505	Visual impairment	6742	SSBP1	OMIM:165510
HP:0000505	Visual impairment	4308	TRPM1	ORPHA:215
HP:0000505	Visual impairment	4308	TRPM1	OMIM:613216
HP:0000505	Visual impairment	57010	CABP4	ORPHA:215
HP:0000505	Visual impairment	345193	LRIT3	ORPHA:215
HP:0000505	Visual impairment	345193	LRIT3	OMIM:615058
HP:0000505	Visual impairment	2916	GRM6	ORPHA:215
HP:0000505	Visual impairment	440435	GPR179	ORPHA:215
HP:0000505	Visual impairment	440435	GPR179	OMIM:614565
HP:0000505	Visual impairment	6011	GRK1	ORPHA:215
HP:0000505	Visual impairment	9187	SLC24A1	ORPHA:215
HP:0000505	Visual impairment	2784	GNB3	ORPHA:215
HP:0000505	Visual impairment	2779	GNAT1	ORPHA:215
HP:0000505	Visual impairment	60506	NYX	ORPHA:215
HP:0000505	Visual impairment	7837	PXDN	OMIM:269400
HP:0000505	Visual impairment	22926	ATF6	ORPHA:49382
HP:0000505	Visual impairment	22926	ATF6	OMIM:616517
HP:0000505	Visual impairment	2780	GNAT2	ORPHA:49382
HP:0000505	Visual impairment	1261	CNGA3	ORPHA:49382
HP:0000505	Visual impairment	1261	CNGA3	OMIM:216900
HP:0000505	Visual impairment	83723	TLCD3B	OMIM:619531
HP:0000505	Visual impairment	326	AIRE	OMIM:240300
HP:0000505	Visual impairment	7867	MAPKAPK3	OMIM:617111
HP:0000505	Visual impairment	282809	POC1B	OMIM:615973
HP:0000505	Visual impairment	83938	LRMDA	OMIM:615179
HP:0000505	Visual impairment	11152	WDR45	OMIM:615179
HP:0000505	Visual impairment	26022	TMEM98	OMIM:615972
HP:0000505	Visual impairment	23093	TTLL5	OMIM:615860
HP:0000505	Visual impairment	129880	BBS5	OMIM:615983
HP:0000505	Visual impairment	113457	TUBA3D	OMIM:617928
HP:0000505	Visual impairment	8905	AP1S2	OMIM:304340
HP:0000505	Visual impairment	4157	MC1R	ORPHA:79432
HP:0000505	Visual impairment	4157	MC1R	OMIM:203200
HP:0000505	Visual impairment	4948	OCA2	ORPHA:79432
HP:0000505	Visual impairment	4948	OCA2	OMIM:203200
HP:0000505	Visual impairment	123624	AGBL1	ORPHA:98974
HP:0000505	Visual impairment	6925	TCF4	ORPHA:98974
HP:0000505	Visual impairment	51151	SLC45A2	ORPHA:79435
HP:0000505	Visual impairment	50	ACO2	OMIM:616289
HP:0000505	Visual impairment	406987	MIR204	OMIM:616722
HP:0000505	Visual impairment	406960	MIR184	OMIM:614303
HP:0000505	Visual impairment	6507	SLC1A3	ORPHA:209967
HP:0000505	Visual impairment	167691	LCA5	ORPHA:364055
HP:0000505	Visual impairment	54765	TRIM44	OMIM:617142
HP:0000505	Visual impairment	83552	MFRP	OMIM:611040
HP:0000505	Visual impairment	84816	RTN4IP1	OMIM:616732
HP:0000505	Visual impairment	11190	CEP250	OMIM:618358
HP:0000505	Visual impairment	91869	RFT1	OMIM:612015
HP:0000505	Visual impairment	611	OPN1SW	ORPHA:88629
HP:0000505	Visual impairment	128338	DRAM2	OMIM:616502
HP:0000505	Visual impairment	267010	RNU12	OMIM:620208
HP:0000505	Visual impairment	57096	RPGRIP1	OMIM:608194
HP:0000505	Visual impairment	91851	CHRDL1	OMIM:309300
HP:0000505	Visual impairment	444	ASPH	OMIM:601552
HP:0000505	Visual impairment	201973	PRIMPOL	OMIM:615420
HP:0000505	Visual impairment	9445	ITM2B	OMIM:616079
HP:0000505	Visual impairment	6297	SALL2	OMIM:216820
HP:0000505	Visual impairment	64840	PORCN	OMIM:305600
HP:0000505	Visual impairment	87178	PNPT1	ORPHA:101111
HP:0000505	Visual impairment	87178	PNPT1	OMIM:608703
HP:0000505	Visual impairment	57498	KIDINS220	OMIM:617296
HP:0000505	Visual impairment	55213	RCBTB1	OMIM:617175
HP:0000505	Visual impairment	55229	PANK4	OMIM:619593
HP:0000505	Visual impairment	4043	LRPAP1	OMIM:615431
HP:0000505	Visual impairment	4070	TACSTD2	OMIM:204870
HP:0000505	Visual impairment	998	CDC42	ORPHA:487796
HP:0000505	Visual impairment	84839	RAX2	OMIM:620102
HP:0000505	Visual impairment	8936	WASF1	OMIM:618707
HP:0000505	Visual impairment	1495	CTNNA1	OMIM:608970
HP:0000505	Visual impairment	10682	EBP	OMIM:300960
HP:0000505	Visual impairment	64131	XYLT1	OMIM:264800
HP:0000505	Visual impairment	80210	ARMC9	OMIM:617622
HP:0000505	Visual impairment	23516	SLC39A14	OMIM:144755
HP:0000505	Visual impairment	5456	POU3F4	ORPHA:1435
HP:0000505	Visual impairment	4140	MARK3	OMIM:618283
HP:0000505	Visual impairment	112752	IFT43	OMIM:617871
HP:0000505	Visual impairment	387	RHOA	OMIM:618727
HP:0000505	Visual impairment	51594	NBAS	OMIM:614800
HP:0000505	Visual impairment	10383	TUBB4B	OMIM:617879
HP:0000505	Visual impairment	6522	SLC4A2	OMIM:620366
HP:0000505	Visual impairment	84233	TMEM126A	OMIM:612989
HP:0000505	Visual impairment	57410	SCYL1	ORPHA:466794
HP:0000505	Visual impairment	5076	PAX2	OMIM:120330
HP:0000505	Visual impairment	224	ALDH3A2	OMIM:270200
HP:0000505	Visual impairment	84277	DNAJC30	OMIM:619382
HP:0000505	Visual impairment	23155	CLCC1	OMIM:609913
HP:0000505	Visual impairment	9699	RIMS2	OMIM:618970
HP:0000505	Visual impairment	23102	TBC1D2B	ORPHA:397973
HP:0000505	Visual impairment	4327	MMP19	OMIM:611543
HP:0000505	Visual impairment	10939	AFG3L2	OMIM:618977
HP:0000505	Visual impairment	5297	PI4KA	OMIM:619708
HP:0000505	Visual impairment	25974	MMACHC	OMIM:277400
HP:0000505	Visual impairment	5052	PRDX1	OMIM:277400
HP:0000505	Visual impairment	136371	ASB10	OMIM:603383
HP:0000505	Visual impairment	471	ATIC	ORPHA:250977
HP:0000505	Visual impairment	471	ATIC	OMIM:608688
HP:0000505	Visual impairment	1757	SARDH	ORPHA:3129
HP:0000505	Visual impairment	286053	NSMCE2	ORPHA:436182
HP:0000505	Visual impairment	7518	XRCC4	ORPHA:436182
HP:0000505	Visual impairment	79152	FA2H	ORPHA:329308
HP:0000505	Visual impairment	9927	MFN2	OMIM:601152
HP:0000505	Visual impairment	6533	SLC6A6	OMIM:145350
HP:0000505	Visual impairment	10283	CWC27	OMIM:250410
HP:0000505	Visual impairment	1737	DLAT	ORPHA:79244
HP:0000505	Visual impairment	79628	SH3TC2	ORPHA:99949
HP:0000505	Visual impairment	347733	TUBB2B	ORPHA:300573
HP:0000505	Visual impairment	16	AARS1	OMIM:619661
HP:0000505	Visual impairment	83550	GPR101	OMIM:300942
HP:0000505	Visual impairment	9692	PRORP	OMIM:619737
HP:0000505	Visual impairment	2475	MTOR	ORPHA:99802
HP:0000505	Visual impairment	10000	AKT3	ORPHA:99802
HP:0000505	Visual impairment	55209	SETD5	ORPHA:404440
HP:0000505	Visual impairment	4041	LRP5	ORPHA:2788
HP:0000505	Visual impairment	10059	DNM1L	ORPHA:98673
HP:0000505	Visual impairment	5879	RAC1	ORPHA:500159
HP:0000505	Visual impairment	54714	CNGB3	OMIM:262300
HP:0000505	Visual impairment	50939	IMPG2	OMIM:616152
HP:0000505	Visual impairment	3617	IMPG1	OMIM:616151
HP:0000505	Visual impairment	23600	AMACR	ORPHA:79095
HP:0000505	Visual impairment	2202	EFEMP1	ORPHA:75376
HP:0000505	Visual impairment	80201	HKDC1	OMIM:619614
HP:0000505	Visual impairment	51095	TRNT1	OMIM:616959
HP:0000505	Visual impairment	64072	CDH23	ORPHA:91347
HP:0000505	Visual impairment	4508	MT-ATP6	ORPHA:644
HP:0000505	Visual impairment	1499	CTNNB1	ORPHA:54595
HP:0000505	Visual impairment	673	BRAF	ORPHA:54595
HP:0000505	Visual impairment	8314	BAP1	ORPHA:2495
HP:0000505	Visual impairment	6598	SMARCB1	ORPHA:2495
HP:0000505	Visual impairment	5155	PDGFB	ORPHA:2495
HP:0000505	Visual impairment	84231	TRAF7	ORPHA:2495
HP:0000505	Visual impairment	207	AKT1	ORPHA:2495
HP:0000505	Visual impairment	5290	PIK3CA	ORPHA:2495
HP:0000505	Visual impairment	7015	TERT	ORPHA:2495
HP:0000505	Visual impairment	51684	SUFU	ORPHA:2495
HP:0000505	Visual impairment	6605	SMARCE1	ORPHA:2495
HP:0000505	Visual impairment	3105	HLA-A	ORPHA:179
HP:0000505	Visual impairment	55214	P3H2	OMIM:614292
HP:0000505	Visual impairment	6935	ZEB1	ORPHA:98973
HP:0000505	Visual impairment	30813	VSX1	ORPHA:98973
HP:0000505	Visual impairment	58495	OVOL2	ORPHA:98973
HP:0000505	Visual impairment	79977	GRHL2	ORPHA:98973
HP:0000505	Visual impairment	1296	COL8A2	ORPHA:98973
HP:0000505	Visual impairment	64802	NMNAT1	OMIM:608553
HP:0000505	Visual impairment	3166	HMX1	OMIM:612109
HP:0000505	Visual impairment	6323	SCN1A	OMIM:607208
HP:0000505	Visual impairment	291	SLC25A4	ORPHA:254892
HP:0000505	Visual impairment	5428	POLG	ORPHA:254892
HP:0000505	Visual impairment	5428	POLG	OMIM:203700
HP:0000505	Visual impairment	56652	TWNK	ORPHA:254892
HP:0000505	Visual impairment	11232	POLG2	ORPHA:254892
HP:0000505	Visual impairment	11232	POLG2	OMIM:610131
HP:0000505	Visual impairment	50484	RRM2B	ORPHA:254892
HP:0000505	Visual impairment	10466	COG5	ORPHA:263487
HP:0000505	Visual impairment	104	ADARB1	OMIM:618862
HP:0000505	Visual impairment	1183	CLCN4	OMIM:300114
HP:0000505	Visual impairment	1183	CLCN4	ORPHA:485350
HP:0000505	Visual impairment	776	CACNA1D	OMIM:615474
HP:0000505	Visual impairment	776	CACNA1D	ORPHA:369929
HP:0000505	Visual impairment	55823	VPS11	OMIM:616683
HP:0000505	Visual impairment	55823	VPS11	ORPHA:466934
HP:0000505	Visual impairment	7355	SLC35A2	ORPHA:356961
HP:0000505	Visual impairment	65062	TMEM237	OMIM:614424
HP:0000505	Visual impairment	781	CACNA2D1	OMIM:620149
HP:0000505	Visual impairment	85358	SHANK3	OMIM:606232
HP:0000505	Visual impairment	6328	SCN3A	OMIM:617938
HP:0000505	Visual impairment	1119	CHKA	OMIM:620023
HP:0000505	Visual impairment	132158	GLYCTK	ORPHA:941
HP:0000505	Visual impairment	10093	ARPC4	OMIM:620141
HP:0000505	Visual impairment	128869	PIGU	OMIM:618590
HP:0000505	Visual impairment	51112	TRAPPC12	ORPHA:500144
HP:0000505	Visual impairment	51112	TRAPPC12	OMIM:617669
HP:0000505	Visual impairment	51103	NDUFAF1	OMIM:618234
HP:0000505	Visual impairment	387119	CEP85L	OMIM:618873
HP:0000505	Visual impairment	387119	CEP85L	ORPHA:572013
HP:0000505	Visual impairment	3020	H3-3A	OMIM:619720
HP:0000505	Visual impairment	57520	HECW2	OMIM:617268
HP:0000505	Visual impairment	396	ARHGDIA	OMIM:615244
HP:0000505	Visual impairment	2782	GNB1	ORPHA:488613
HP:0000505	Visual impairment	2782	GNB1	OMIM:616973
HP:0000505	Visual impairment	27245	AHDC1	ORPHA:412069
HP:0000505	Visual impairment	1841	DTYMK	OMIM:619847
HP:0000505	Visual impairment	79639	TMEM53	OMIM:619727
HP:0000505	Visual impairment	166378	AFG2A	OMIM:616577
HP:0000505	Visual impairment	80055	PGAP1	OMIM:615802
HP:0000505	Visual impairment	2561	GABRB2	OMIM:617829
HP:0000505	Visual impairment	10978	CLP1	OMIM:615803
HP:0000505	Visual impairment	271	AMPD2	OMIM:615809
HP:0000505	Visual impairment	23499	MACF1	ORPHA:572013
HP:0000505	Visual impairment	23499	MACF1	OMIM:618325
HP:0000505	Visual impairment	8869	ST3GAL5	OMIM:609056
HP:0000505	Visual impairment	1340	COX6B1	OMIM:619051
HP:0000505	Visual impairment	4512	MT-CO1	OMIM:540000
HP:0000505	Visual impairment	4513	MT-CO2	OMIM:540000
HP:0000505	Visual impairment	4514	MT-CO3	OMIM:540000
HP:0000505	Visual impairment	4519	MT-CYB	OMIM:540000
HP:0000505	Visual impairment	4511	MT-TC	OMIM:540000
HP:0000505	Visual impairment	4574	MT-TS1	OMIM:540000
HP:0000505	Visual impairment	4575	MT-TS2	OMIM:540000
HP:0000505	Visual impairment	4558	MT-TF	OMIM:540000
HP:0000505	Visual impairment	4541	MT-ND6	OMIM:540000
HP:0000505	Visual impairment	4567	MT-TL1	OMIM:540000
HP:0000505	Visual impairment	4540	MT-ND5	OMIM:540000
HP:0000505	Visual impairment	4566	MT-TK	OMIM:540000
HP:0000505	Visual impairment	4535	MT-ND1	OMIM:540000
HP:0000505	Visual impairment	4572	MT-TQ	OMIM:540000
HP:0000505	Visual impairment	4577	MT-TV	OMIM:540000
HP:0000505	Visual impairment	4578	MT-TW	OMIM:540000
HP:0000505	Visual impairment	473	RERE	ORPHA:494344
HP:0000505	Visual impairment	4001	LMNB1	OMIM:619179
HP:0000505	Visual impairment	2560	GABRB1	OMIM:617153
HP:0000505	Visual impairment	10588	MTHFS	OMIM:618367
HP:0000505	Visual impairment	100131801	PET100	OMIM:619055
HP:0000505	Visual impairment	55572	FOXRED1	OMIM:618241
HP:0000505	Visual impairment	3899	AFF3	OMIM:619297
HP:0000505	Visual impairment	6844	VAMP2	OMIM:618760
HP:0000505	Visual impairment	5119	CHMP1A	OMIM:614961
HP:0000505	Visual impairment	79029	AFG2B	OMIM:619616
HP:0000505	Visual impairment	5530	PPP3CA	OMIM:617711
HP:0000505	Visual impairment	80746	TSEN2	OMIM:612389
HP:0000505	Visual impairment	80746	TSEN2	ORPHA:2524
HP:0000505	Visual impairment	93627	TBCK	OMIM:616900
HP:0000505	Visual impairment	29920	PYCR2	ORPHA:481152
HP:0000505	Visual impairment	2917	GRM7	OMIM:618922
HP:0000505	Visual impairment	85465	SELENOI	OMIM:618768
HP:0000505	Visual impairment	6821	SUOX	OMIM:272300
HP:0000505	Visual impairment	1678	TIMM8A	OMIM:304700
HP:0000505	Visual impairment	1678	TIMM8A	ORPHA:52368
HP:0000505	Visual impairment	2898	GRIK2	OMIM:619580
HP:0000505	Visual impairment	10087	CERT1	OMIM:616351
HP:0000505	Visual impairment	774	CACNA1B	OMIM:618497
HP:0000505	Visual impairment	11342	RNF13	OMIM:618379
HP:0000505	Visual impairment	11342	RNF13	ORPHA:544503
HP:0000505	Visual impairment	2906	GRIN2D	OMIM:617162
HP:0000505	Visual impairment	5277	PIGA	OMIM:300868
HP:0000505	Visual impairment	5277	PIGA	OMIM:301072
HP:0000505	Visual impairment	23327	NEDD4L	OMIM:617201
HP:0000505	Visual impairment	1822	ATN1	OMIM:618494
HP:0000505	Visual impairment	4761	NEUROD2	OMIM:618374
HP:0000505	Visual impairment	2257	FGF12	OMIM:617166
HP:0000505	Visual impairment	23065	EMC1	OMIM:616875
HP:0000505	Visual impairment	23065	EMC1	ORPHA:480898
HP:0000505	Visual impairment	1729	DIAPH1	OMIM:616632
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93926
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93924
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93925
HP:0000505	Visual impairment	28514	DLL1	ORPHA:220386
HP:0000505	Visual impairment	2253	FGF8	ORPHA:93926
HP:0000505	Visual impairment	2253	FGF8	ORPHA:93924
HP:0000505	Visual impairment	2253	FGF8	ORPHA:93925
HP:0000505	Visual impairment	2253	FGF8	ORPHA:220386
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93926
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93924
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93925
HP:0000505	Visual impairment	6496	SIX3	ORPHA:220386
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93926
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93924
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93925
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:220386
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93926
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93924
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93925
HP:0000505	Visual impairment	4838	NODAL	ORPHA:220386
HP:0000505	Visual impairment	6469	SHH	ORPHA:93926
HP:0000505	Visual impairment	6469	SHH	ORPHA:93924
HP:0000505	Visual impairment	6469	SHH	ORPHA:93925
HP:0000505	Visual impairment	6469	SHH	ORPHA:220386
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93926
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93924
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93925
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:220386
HP:0000505	Visual impairment	6491	STIL	ORPHA:93926
HP:0000505	Visual impairment	6491	STIL	ORPHA:93924
HP:0000505	Visual impairment	6491	STIL	ORPHA:93925
HP:0000505	Visual impairment	6491	STIL	ORPHA:220386
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93926
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93924
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93925
HP:0000505	Visual impairment	2619	GAS1	ORPHA:220386
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93926
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93924
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93925
HP:0000505	Visual impairment	84976	DISP1	ORPHA:220386
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93926
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93924
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93925
HP:0000505	Visual impairment	2736	GLI2	ORPHA:220386
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93926
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93924
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93925
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:220386
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93926
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93924
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93925
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:220386
HP:0000505	Visual impairment	50937	CDON	ORPHA:93926
HP:0000505	Visual impairment	50937	CDON	ORPHA:93924
HP:0000505	Visual impairment	50937	CDON	ORPHA:93925
HP:0000505	Visual impairment	50937	CDON	ORPHA:220386
HP:0000505	Visual impairment	2260	FGFR1	ORPHA:93924
HP:0000505	Visual impairment	2260	FGFR1	ORPHA:220386
HP:0000505	Visual impairment	23007	PLCH1	ORPHA:93925
HP:0000505	Visual impairment	10735	STAG2	ORPHA:93925
HP:0000505	Visual impairment	10735	STAG2	ORPHA:220386
HP:0000505	Visual impairment	79731	NARS2	OMIM:616239
HP:0000505	Visual impairment	26227	PHGDH	ORPHA:79351
HP:0000505	Visual impairment	6638	SNRPN	ORPHA:177907
HP:0000505	Visual impairment	6792	CDKL5	OMIM:300672
HP:0000505	Visual impairment	5518	PPP2R1A	OMIM:616362
HP:0000505	Visual impairment	5518	PPP2R1A	ORPHA:457284
HP:0000505	Visual impairment	57003	CCDC47	OMIM:618268
HP:0000505	Visual impairment	51604	PIGT	OMIM:615398
HP:0000505	Visual impairment	51604	PIGT	ORPHA:369837
HP:0000505	Visual impairment	57545	CC2D2A	OMIM:612285
HP:0000505	Visual impairment	94005	PIGS	OMIM:618143
HP:0000505	Visual impairment	22931	RAB18	OMIM:614222
HP:0000505	Visual impairment	22931	RAB18	ORPHA:2510
HP:0000505	Visual impairment	9894	TELO2	ORPHA:488642
HP:0000505	Visual impairment	9894	TELO2	OMIM:616954
HP:0000505	Visual impairment	51692	CPSF3	OMIM:619876
HP:0000505	Visual impairment	3098	HK1	OMIM:618547
HP:0000505	Visual impairment	85440	DOCK7	ORPHA:411986
HP:0000505	Visual impairment	85440	DOCK7	OMIM:615859
HP:0000505	Visual impairment	9091	PIGQ	OMIM:618548
HP:0000505	Visual impairment	83475	DOHH	OMIM:620066
HP:0000505	Visual impairment	84992	PIGY	OMIM:616809
HP:0000505	Visual impairment	728294	D2HGDH	OMIM:600721
HP:0000505	Visual impairment	2222	FDFT1	OMIM:618156
HP:0000505	Visual impairment	90522	YIF1B	OMIM:619125
HP:0000505	Visual impairment	253959	RALGAPA1	OMIM:618797
HP:0000505	Visual impairment	283989	TSEN54	ORPHA:2524
HP:0000505	Visual impairment	116461	TSEN15	ORPHA:2524
HP:0000505	Visual impairment	79042	TSEN34	ORPHA:2524
HP:0000505	Visual impairment	51091	SEPSECS	ORPHA:2524
HP:0000505	Visual impairment	2555	GABRA2	OMIM:618557
HP:0000505	Visual impairment	25973	PARS2	OMIM:618437
HP:0000505	Visual impairment	8911	CACNA1I	OMIM:620114
HP:0000505	Visual impairment	60386	SLC25A19	OMIM:607196
HP:0000505	Visual impairment	8813	DPM1	OMIM:608799
HP:0000505	Visual impairment	8813	DPM1	ORPHA:79322
HP:0000505	Visual impairment	57107	PDSS2	ORPHA:255249
HP:0000505	Visual impairment	57107	PDSS2	OMIM:614652
HP:0000505	Visual impairment	27235	COQ2	ORPHA:255249
HP:0000505	Visual impairment	23162	MAPK8IP3	OMIM:618443
HP:0000505	Visual impairment	197258	FCSK	OMIM:618324
HP:0000505	Visual impairment	3798	KIF5A	OMIM:617235
HP:0000505	Visual impairment	440	ASNS	OMIM:615574
HP:0000505	Visual impairment	777	CACNA1E	OMIM:618285
HP:0000505	Visual impairment	4668	NAGA	OMIM:609241
HP:0000505	Visual impairment	4668	NAGA	ORPHA:79279
HP:0000505	Visual impairment	8243	SMC1A	ORPHA:220386
HP:0000505	Visual impairment	133686	NADK2	ORPHA:431361
HP:0000505	Visual impairment	133686	NADK2	OMIM:616034
HP:0000505	Visual impairment	738	VPS51	OMIM:618606
HP:0000505	Visual impairment	51227	PIGP	OMIM:617599
HP:0000505	Visual impairment	1107	CHD3	OMIM:618205
HP:0000505	Visual impairment	5718	PSMD12	OMIM:617516
HP:0000505	Visual impairment	9757	KMT2B	OMIM:619934
HP:0000505	Visual impairment	57731	SPTBN4	OMIM:617519
HP:0000505	Visual impairment	22930	RAB3GAP1	ORPHA:2510
HP:0000505	Visual impairment	25782	RAB3GAP2	ORPHA:2510
HP:0000505	Visual impairment	128637	TBC1D20	ORPHA:2510
HP:0000505	Visual impairment	116150	NUS1	OMIM:617082
HP:0000505	Visual impairment	6576	SLC25A1	OMIM:615182
HP:0000505	Visual impairment	2902	GRIN1	OMIM:614254
HP:0000505	Visual impairment	2902	GRIN1	ORPHA:208447
HP:0000505	Visual impairment	51693	TRAPPC2L	OMIM:618331
HP:0000505	Visual impairment	9276	COPB2	OMIM:617800
HP:0000505	Visual impairment	10844	TUBGCP2	OMIM:618737
HP:0000505	Visual impairment	547	KIF1A	OMIM:614255
HP:0000505	Visual impairment	221927	BRAT1	OMIM:614498
HP:0000505	Visual impairment	58497	PRUNE1	ORPHA:544469
HP:0000505	Visual impairment	55294	FBXW7	OMIM:620012
HP:0000506	Telecanthus	10682	EBP	ORPHA:401973
HP:0000506	Telecanthus	128	ADH5	OMIM:619151
HP:0000506	Telecanthus	7528	YY1	ORPHA:506358
HP:0000506	Telecanthus	7528	YY1	OMIM:617557
HP:0000506	Telecanthus	23141	ANKLE2	OMIM:616681
HP:0000506	Telecanthus	894	CCND2	ORPHA:83473
HP:0000506	Telecanthus	5296	PIK3R2	ORPHA:83473
HP:0000506	Telecanthus	10000	AKT3	ORPHA:83473
HP:0000506	Telecanthus	2697	GJA1	ORPHA:1522
HP:0000506	Telecanthus	2697	GJA1	OMIM:257850
HP:0000506	Telecanthus	2697	GJA1	OMIM:218400
HP:0000506	Telecanthus	56172	ANKH	ORPHA:1522
HP:0000506	Telecanthus	3265	HRAS	ORPHA:2612
HP:0000506	Telecanthus	3845	KRAS	ORPHA:2612
HP:0000506	Telecanthus	3845	KRAS	ORPHA:3339
HP:0000506	Telecanthus	4893	NRAS	ORPHA:2612
HP:0000506	Telecanthus	26128	KIFBP	OMIM:609460
HP:0000506	Telecanthus	23135	KDM6B	OMIM:618505
HP:0000506	Telecanthus	2263	FGFR2	OMIM:149730
HP:0000506	Telecanthus	57539	WDR35	OMIM:613610
HP:0000506	Telecanthus	3008	H1-4	OMIM:617537
HP:0000506	Telecanthus	7518	XRCC4	ORPHA:99812
HP:0000506	Telecanthus	3981	LIG4	ORPHA:99812
HP:0000506	Telecanthus	3981	LIG4	ORPHA:235
HP:0000506	Telecanthus	84570	COL25A1	ORPHA:91411
HP:0000506	Telecanthus	79776	ZFHX4	ORPHA:91411
HP:0000506	Telecanthus	1836	SLC26A2	ORPHA:56304
HP:0000506	Telecanthus	4784	NFIX	ORPHA:447980
HP:0000506	Telecanthus	2316	FLNA	OMIM:300244
HP:0000506	Telecanthus	4281	MID1	OMIM:300000
HP:0000506	Telecanthus	4281	MID1	ORPHA:2745
HP:0000506	Telecanthus	2737	GLI3	ORPHA:380
HP:0000506	Telecanthus	89910	UBE3B	OMIM:244450
HP:0000506	Telecanthus	89910	UBE3B	ORPHA:2707
HP:0000506	Telecanthus	2317	FLNB	ORPHA:1190
HP:0000506	Telecanthus	4010	LMX1B	ORPHA:495818
HP:0000506	Telecanthus	6812	STXBP1	ORPHA:495818
HP:0000506	Telecanthus	65082	VPS33A	OMIM:617303
HP:0000506	Telecanthus	65082	VPS33A	ORPHA:505248
HP:0000506	Telecanthus	57231	SNX14	ORPHA:397709
HP:0000506	Telecanthus	6197	RPS6KA3	OMIM:303600
HP:0000506	Telecanthus	79029	AFG2B	OMIM:619616
HP:0000506	Telecanthus	4853	NOTCH2	OMIM:102500
HP:0000506	Telecanthus	4853	NOTCH2	ORPHA:955
HP:0000506	Telecanthus	284252	KCTD1	ORPHA:2036
HP:0000506	Telecanthus	284252	KCTD1	OMIM:181270
HP:0000506	Telecanthus	546	ATRX	ORPHA:847
HP:0000506	Telecanthus	7020	TFAP2A	OMIM:113620
HP:0000506	Telecanthus	1281	COL3A1	ORPHA:286
HP:0000506	Telecanthus	9839	ZEB2	ORPHA:261552
HP:0000506	Telecanthus	9839	ZEB2	ORPHA:261537
HP:0000506	Telecanthus	4297	KMT2A	ORPHA:319182
HP:0000506	Telecanthus	6885	MAP3K7	OMIM:157800
HP:0000506	Telecanthus	55148	UBR7	OMIM:619189
HP:0000506	Telecanthus	5813	PURA	ORPHA:438216
HP:0000506	Telecanthus	5813	PURA	OMIM:616158
HP:0000506	Telecanthus	5813	PURA	ORPHA:314655
HP:0000506	Telecanthus	1009	CDH11	ORPHA:1299
HP:0000506	Telecanthus	2783	GNB2	OMIM:619503
HP:0000506	Telecanthus	26005	C2CD3	OMIM:615948
HP:0000506	Telecanthus	26005	C2CD3	ORPHA:434179
HP:0000506	Telecanthus	526	ATP6V1B2	ORPHA:3473
HP:0000506	Telecanthus	3756	KCNH1	ORPHA:3473
HP:0000506	Telecanthus	3782	KCNN3	ORPHA:3473
HP:0000506	Telecanthus	3192	HNRNPU	ORPHA:238769
HP:0000506	Telecanthus	54888	NSUN2	ORPHA:235
HP:0000506	Telecanthus	54888	NSUN2	OMIM:611091
HP:0000506	Telecanthus	1947	EFNB1	OMIM:304110
HP:0000506	Telecanthus	4593	MUSK	OMIM:208150
HP:0000506	Telecanthus	8558	CDK10	OMIM:617694
HP:0000506	Telecanthus	23259	DDHD2	OMIM:615033
HP:0000506	Telecanthus	8239	USP9X	ORPHA:480880
HP:0000506	Telecanthus	9091	PIGQ	OMIM:618548
HP:0000506	Telecanthus	10236	HNRNPR	OMIM:620073
HP:0000506	Telecanthus	79796	ALG9	ORPHA:79328
HP:0000506	Telecanthus	79796	ALG9	OMIM:263210
HP:0000506	Telecanthus	79718	TBL1XR1	OMIM:602342
HP:0000506	Telecanthus	79718	TBL1XR1	ORPHA:487825
HP:0000506	Telecanthus	5605	MAP2K2	OMIM:615280
HP:0000506	Telecanthus	4286	MITF	OMIM:193510
HP:0000506	Telecanthus	4286	MITF	ORPHA:897
HP:0000506	Telecanthus	4286	MITF	ORPHA:895
HP:0000506	Telecanthus	7750	ZMYM2	OMIM:619522
HP:0000506	Telecanthus	51098	IFT52	OMIM:617102
HP:0000506	Telecanthus	113179	ADAT3	OMIM:615286
HP:0000506	Telecanthus	113179	ADAT3	ORPHA:363528
HP:0000506	Telecanthus	92002	CCNQ	ORPHA:140952
HP:0000506	Telecanthus	92002	CCNQ	OMIM:300707
HP:0000506	Telecanthus	8481	OFD1	OMIM:311200
HP:0000506	Telecanthus	8481	OFD1	ORPHA:2750
HP:0000506	Telecanthus	10472	ZBTB18	OMIM:612337
HP:0000506	Telecanthus	57688	ZSWIM6	OMIM:603671
HP:0000506	Telecanthus	57688	ZSWIM6	ORPHA:1827
HP:0000506	Telecanthus	668	FOXL2	ORPHA:572333
HP:0000506	Telecanthus	668	FOXL2	OMIM:110100
HP:0000506	Telecanthus	5727	PTCH1	ORPHA:377
HP:0000506	Telecanthus	8643	PTCH2	ORPHA:377
HP:0000506	Telecanthus	51684	SUFU	ORPHA:377
HP:0000506	Telecanthus	5295	PIK3R1	OMIM:269880
HP:0000506	Telecanthus	5295	PIK3R1	ORPHA:3163
HP:0000506	Telecanthus	54941	RNF125	OMIM:616260
HP:0000506	Telecanthus	5077	PAX3	OMIM:193500
HP:0000506	Telecanthus	5077	PAX3	ORPHA:896
HP:0000506	Telecanthus	5077	PAX3	OMIM:148820
HP:0000506	Telecanthus	5077	PAX3	ORPHA:894
HP:0000506	Telecanthus	5077	PAX3	OMIM:122880
HP:0000506	Telecanthus	2260	FGFR1	OMIM:166250
HP:0000506	Telecanthus	2260	FGFR1	ORPHA:2117
HP:0000506	Telecanthus	85440	DOCK7	OMIM:615859
HP:0000506	Telecanthus	85440	DOCK7	ORPHA:411986
HP:0000506	Telecanthus	1387	CREBBP	OMIM:618332
HP:0000506	Telecanthus	29123	ANKRD11	OMIM:148050
HP:0000506	Telecanthus	29123	ANKRD11	ORPHA:2332
HP:0000506	Telecanthus	8621	CDK13	OMIM:617360
HP:0000506	Telecanthus	112752	IFT43	OMIM:614099
HP:0000506	Telecanthus	60529	ALX4	ORPHA:228390
HP:0000506	Telecanthus	60529	ALX4	OMIM:613451
HP:0000506	Telecanthus	51013	EXOSC1	OMIM:619304
HP:0000506	Telecanthus	1642	DDB1	OMIM:619426
HP:0000506	Telecanthus	2200	FBN1	ORPHA:2462
HP:0000506	Telecanthus	6497	SKI	ORPHA:2462
HP:0000506	Telecanthus	6497	SKI	OMIM:182212
HP:0000506	Telecanthus	5648	MASP1	OMIM:257920
HP:0000506	Telecanthus	5648	MASP1	ORPHA:293843
HP:0000506	Telecanthus	55593	OTUD5	OMIM:301056
HP:0000506	Telecanthus	5308	PITX2	ORPHA:782
HP:0000506	Telecanthus	2296	FOXC1	ORPHA:782
HP:0000506	Telecanthus	128869	PIGU	OMIM:618590
HP:0000506	Telecanthus	7707	ZNF148	OMIM:617260
HP:0000506	Telecanthus	55869	HDAC8	OMIM:300882
HP:0000506	Telecanthus	4854	NOTCH3	OMIM:130720
HP:0000506	Telecanthus	57520	HECW2	OMIM:617268
HP:0000506	Telecanthus	117581	TWIST2	ORPHA:1231
HP:0000506	Telecanthus	117581	TWIST2	OMIM:209885
HP:0000506	Telecanthus	1908	EDN3	ORPHA:897
HP:0000506	Telecanthus	1910	EDNRB	ORPHA:897
HP:0000506	Telecanthus	1910	EDNRB	ORPHA:895
HP:0000506	Telecanthus	6663	SOX10	ORPHA:897
HP:0000506	Telecanthus	6663	SOX10	ORPHA:163746
HP:0000506	Telecanthus	6663	SOX10	ORPHA:895
HP:0000506	Telecanthus	3417	IDH1	ORPHA:99646
HP:0000506	Telecanthus	4621	MYH3	OMIM:193700
HP:0000506	Telecanthus	4621	MYH3	ORPHA:2990
HP:0000506	Telecanthus	10265	IRX5	OMIM:611174
HP:0000506	Telecanthus	7468	NSD2	OMIM:619695
HP:0000506	Telecanthus	29940	DSE	OMIM:615539
HP:0000506	Telecanthus	1312	COMT	ORPHA:567
HP:0000506	Telecanthus	221037	JMJD1C	ORPHA:567
HP:0000506	Telecanthus	2812	GP1BB	ORPHA:567
HP:0000506	Telecanthus	6239	RREB1	ORPHA:567
HP:0000506	Telecanthus	6899	TBX1	ORPHA:567
HP:0000506	Telecanthus	7290	HIRA	ORPHA:567
HP:0000506	Telecanthus	9632	SEC24C	ORPHA:567
HP:0000506	Telecanthus	7353	UFD1	ORPHA:567
HP:0000506	Telecanthus	421	ARVCF	ORPHA:567
HP:0000506	Telecanthus	1000	CDH2	OMIM:618929
HP:0000506	Telecanthus	55764	IFT122	OMIM:218330
HP:0000506	Telecanthus	10943	MSL3	OMIM:301032
HP:0000506	Telecanthus	9509	ADAMTS2	OMIM:225410
HP:0000506	Telecanthus	5745	PTH1R	ORPHA:50945
HP:0000506	Telecanthus	9419	CRIPT	OMIM:615789
HP:0000506	Telecanthus	9343	EFTUD2	OMIM:610536
HP:0000506	Telecanthus	9343	EFTUD2	ORPHA:79113
HP:0000506	Telecanthus	11285	B4GALT7	ORPHA:75496
HP:0000506	Telecanthus	71	ACTG1	OMIM:614583
HP:0000506	Telecanthus	71	ACTG1	ORPHA:2995
HP:0000506	Telecanthus	80036	TRPM3	OMIM:620224
HP:0000506	Telecanthus	8405	SPOP	OMIM:618828
HP:0000506	Telecanthus	9935	MAFB	ORPHA:2774
HP:0000506	Telecanthus	80781	COL18A1	OMIM:267750
HP:0000506	Telecanthus	113189	CHST14	OMIM:601776
HP:0000506	Telecanthus	51715	RAB23	OMIM:201000
HP:0000506	Telecanthus	1857	DVL3	OMIM:616894
HP:0000506	Telecanthus	114928	GPRASP2	OMIM:301018
HP:0000506	Telecanthus	202018	TAPT1	OMIM:616897
HP:0000506	Telecanthus	2890	GRIA1	OMIM:619927
HP:0000506	Telecanthus	7299	TYR	ORPHA:895
HP:0000506	Telecanthus	6591	SNAI2	ORPHA:895
HP:0000506	Telecanthus	4254	KITLG	ORPHA:895
HP:0000506	Telecanthus	4254	KITLG	OMIM:619947
HP:0000506	Telecanthus	403	ARL3	OMIM:618161
HP:0000506	Telecanthus	10084	PQBP1	OMIM:309500
HP:0000506	Telecanthus	55733	HHAT	ORPHA:1422
HP:0000506	Telecanthus	9487	PIGL	OMIM:280000
HP:0000506	Telecanthus	4000	LMNA	ORPHA:1662
HP:0000506	Telecanthus	10269	ZMPSTE24	ORPHA:1662
HP:0000506	Telecanthus	170692	ADAMTS18	OMIM:615458
HP:0000506	Telecanthus	10584	COLEC10	ORPHA:293843
HP:0000506	Telecanthus	78989	COLEC11	ORPHA:293843
HP:0000506	Telecanthus	1146	CHRNG	ORPHA:2990
HP:0000506	Telecanthus	4750	NEK1	ORPHA:2751
HP:0000506	Telecanthus	60	ACTB	ORPHA:2995
HP:0000506	Telecanthus	11011	TLK2	OMIM:618050
HP:0000506	Telecanthus	129285	PPP1R21	OMIM:619383
HP:0000506	Telecanthus	23102	TBC1D2B	ORPHA:397973
HP:0000506	Telecanthus	84148	KAT8	OMIM:618974
HP:0000506	Telecanthus	4654	MYOD1	OMIM:618975
HP:0000506	Telecanthus	2108	ETFA	OMIM:231680
HP:0000506	Telecanthus	2109	ETFB	OMIM:231680
HP:0000506	Telecanthus	2110	ETFDH	OMIM:231680
HP:0000506	Telecanthus	246329	STAC3	OMIM:255995
HP:0000581	Blepharophimosis	27316	RBMX	OMIM:300238
HP:0000581	Blepharophimosis	199857	ALG14	OMIM:619036
HP:0000581	Blepharophimosis	4204	MECP2	ORPHA:1762
HP:0000581	Blepharophimosis	57539	WDR35	OMIM:613610
HP:0000581	Blepharophimosis	5077	PAX3	ORPHA:1529
HP:0000581	Blepharophimosis	5077	PAX3	OMIM:193500
HP:0000581	Blepharophimosis	5077	PAX3	ORPHA:896
HP:0000581	Blepharophimosis	5077	PAX3	OMIM:148820
HP:0000581	Blepharophimosis	10992	SF3B2	OMIM:164210
HP:0000581	Blepharophimosis	64220	STRA6	OMIM:601186
HP:0000581	Blepharophimosis	55209	SETD5	ORPHA:404440
HP:0000581	Blepharophimosis	613	BCR	ORPHA:261330
HP:0000581	Blepharophimosis	1399	CRKL	ORPHA:261330
HP:0000581	Blepharophimosis	5594	MAPK1	ORPHA:261330
HP:0000581	Blepharophimosis	89910	UBE3B	OMIM:244450
HP:0000581	Blepharophimosis	89910	UBE3B	ORPHA:2707
HP:0000581	Blepharophimosis	6662	SOX9	OMIM:114290
HP:0000581	Blepharophimosis	10584	COLEC10	OMIM:248340
HP:0000581	Blepharophimosis	10584	COLEC10	ORPHA:293843
HP:0000581	Blepharophimosis	284058	KANSL1	ORPHA:363958
HP:0000581	Blepharophimosis	284058	KANSL1	ORPHA:363965
HP:0000581	Blepharophimosis	284058	KANSL1	OMIM:610443
HP:0000581	Blepharophimosis	7841	MOGS	OMIM:606056
HP:0000581	Blepharophimosis	6899	TBX1	OMIM:188400
HP:0000581	Blepharophimosis	6899	TBX1	OMIM:192430
HP:0000581	Blepharophimosis	8642	DCHS1	OMIM:601390
HP:0000581	Blepharophimosis	8642	DCHS1	ORPHA:314679
HP:0000581	Blepharophimosis	2697	GJA1	OMIM:164200
HP:0000581	Blepharophimosis	1123	CHN1	ORPHA:233
HP:0000581	Blepharophimosis	2074	ERCC6	OMIM:214150
HP:0000581	Blepharophimosis	3981	LIG4	ORPHA:235
HP:0000581	Blepharophimosis	54888	NSUN2	ORPHA:235
HP:0000581	Blepharophimosis	54888	NSUN2	OMIM:611091
HP:0000581	Blepharophimosis	4953	ODC1	OMIM:619075
HP:0000581	Blepharophimosis	4953	ODC1	ORPHA:544488
HP:0000581	Blepharophimosis	10801	SEPTIN9	OMIM:162100
HP:0000581	Blepharophimosis	4593	MUSK	OMIM:208150
HP:0000581	Blepharophimosis	6608	SMO	OMIM:601707
HP:0000581	Blepharophimosis	7862	BRPF1	OMIM:617333
HP:0000581	Blepharophimosis	79633	FAT4	OMIM:616006
HP:0000581	Blepharophimosis	79633	FAT4	ORPHA:314679
HP:0000581	Blepharophimosis	79633	FAT4	OMIM:615546
HP:0000581	Blepharophimosis	6804	STX1A	ORPHA:904
HP:0000581	Blepharophimosis	7461	CLIP2	ORPHA:904
HP:0000581	Blepharophimosis	84277	DNAJC30	ORPHA:904
HP:0000581	Blepharophimosis	8468	FKBP6	ORPHA:904
HP:0000581	Blepharophimosis	5982	RFC2	ORPHA:904
HP:0000581	Blepharophimosis	2969	GTF2I	ORPHA:904
HP:0000581	Blepharophimosis	3984	LIMK1	ORPHA:904
HP:0000581	Blepharophimosis	9569	GTF2IRD1	ORPHA:904
HP:0000581	Blepharophimosis	155382	VPS37D	ORPHA:904
HP:0000581	Blepharophimosis	155368	METTL27	ORPHA:904
HP:0000581	Blepharophimosis	114049	BUD23	ORPHA:904
HP:0000581	Blepharophimosis	7458	EIF4H	ORPHA:904
HP:0000581	Blepharophimosis	84163	GTF2IRD2	ORPHA:904
HP:0000581	Blepharophimosis	9275	BCL7B	ORPHA:904
HP:0000581	Blepharophimosis	26608	TBL2	ORPHA:904
HP:0000581	Blepharophimosis	653361	NCF1	ORPHA:904
HP:0000581	Blepharophimosis	135886	TMEM270	ORPHA:904
HP:0000581	Blepharophimosis	51085	MLXIPL	ORPHA:904
HP:0000581	Blepharophimosis	51085	MLXIPL	OMIM:194050
HP:0000581	Blepharophimosis	9031	BAZ1B	ORPHA:904
HP:0000581	Blepharophimosis	2006	ELN	ORPHA:904
HP:0000581	Blepharophimosis	2006	ELN	OMIM:194050
HP:0000581	Blepharophimosis	81031	SLC2A10	ORPHA:3342
HP:0000581	Blepharophimosis	81031	SLC2A10	OMIM:208050
HP:0000581	Blepharophimosis	286	ANK1	ORPHA:251066
HP:0000581	Blepharophimosis	10907	TXNL4A	OMIM:608572
HP:0000581	Blepharophimosis	78989	COLEC11	OMIM:265050
HP:0000581	Blepharophimosis	78989	COLEC11	ORPHA:293843
HP:0000581	Blepharophimosis	4089	SMAD4	OMIM:139210
HP:0000581	Blepharophimosis	4089	SMAD4	ORPHA:2588
HP:0000581	Blepharophimosis	27086	FOXP1	ORPHA:391372
HP:0000581	Blepharophimosis	7358	UGDH	OMIM:618792
HP:0000581	Blepharophimosis	3845	KRAS	ORPHA:3339
HP:0000581	Blepharophimosis	9993	DGCR2	OMIM:192430
HP:0000581	Blepharophimosis	8220	ESS2	OMIM:192430
HP:0000581	Blepharophimosis	8214	DGCR6	OMIM:192430
HP:0000581	Blepharophimosis	54487	DGCR8	OMIM:192430
HP:0000581	Blepharophimosis	388015	RTL1	ORPHA:96334
HP:0000581	Blepharophimosis	8788	DLK1	ORPHA:96334
HP:0000581	Blepharophimosis	55384	MEG3	ORPHA:96334
HP:0000581	Blepharophimosis	668	FOXL2	ORPHA:572333
HP:0000581	Blepharophimosis	668	FOXL2	OMIM:110100
HP:0000581	Blepharophimosis	3187	HNRNPH1	OMIM:620083
HP:0000581	Blepharophimosis	63895	PIEZO2	OMIM:248700
HP:0000581	Blepharophimosis	63895	PIEZO2	ORPHA:2461
HP:0000581	Blepharophimosis	63895	PIEZO2	OMIM:108145
HP:0000581	Blepharophimosis	9968	MED12	OMIM:300895
HP:0000581	Blepharophimosis	9968	MED12	ORPHA:293707
HP:0000581	Blepharophimosis	3339	HSPG2	OMIM:255800
HP:0000581	Blepharophimosis	3339	HSPG2	ORPHA:800
HP:0000581	Blepharophimosis	84295	PHF6	ORPHA:127
HP:0000581	Blepharophimosis	84295	PHF6	OMIM:301900
HP:0000581	Blepharophimosis	1387	CREBBP	OMIM:618332
HP:0000581	Blepharophimosis	2033	EP300	OMIM:618333
HP:0000581	Blepharophimosis	8621	CDK13	OMIM:617360
HP:0000581	Blepharophimosis	54101	RIPK4	OMIM:263650
HP:0000581	Blepharophimosis	10075	HUWE1	OMIM:309590
HP:0000581	Blepharophimosis	27238	GPKOW	ORPHA:2570
HP:0000581	Blepharophimosis	57459	GATAD2B	OMIM:615074
HP:0000581	Blepharophimosis	60529	ALX4	OMIM:613451
HP:0000581	Blepharophimosis	5648	MASP1	OMIM:257920
HP:0000581	Blepharophimosis	5648	MASP1	ORPHA:293843
HP:0000581	Blepharophimosis	1788	DNMT3A	OMIM:615879
HP:0000581	Blepharophimosis	8626	TP63	OMIM:604292
HP:0000581	Blepharophimosis	91179	SCARF2	OMIM:600920
HP:0000581	Blepharophimosis	473	RERE	OMIM:616975
HP:0000581	Blepharophimosis	473	RERE	ORPHA:494344
HP:0000581	Blepharophimosis	55784	MCTP2	ORPHA:1596
HP:0000581	Blepharophimosis	10982	MAPRE2	OMIM:616734
HP:0000581	Blepharophimosis	2067	ERCC1	OMIM:610758
HP:0000581	Blepharophimosis	4297	KMT2A	OMIM:605130
HP:0000581	Blepharophimosis	4621	MYH3	OMIM:193700
HP:0000581	Blepharophimosis	4998	ORC1	OMIM:224690
HP:0000581	Blepharophimosis	10265	IRX5	OMIM:611174
HP:0000581	Blepharophimosis	10082	GPC6	OMIM:258315
HP:0000581	Blepharophimosis	3759	KCNJ2	OMIM:170390
HP:0000581	Blepharophimosis	64093	SMOC1	ORPHA:1106
HP:0000581	Blepharophimosis	64093	SMOC1	OMIM:206920
HP:0000581	Blepharophimosis	23522	KAT6B	OMIM:603736
HP:0000581	Blepharophimosis	23522	KAT6B	ORPHA:3047
HP:0000581	Blepharophimosis	545	ATR	OMIM:210600
HP:0000581	Blepharophimosis	4613	MYCN	OMIM:164280
HP:0000581	Blepharophimosis	9401	RECQL4	OMIM:266280
HP:0000581	Blepharophimosis	2290	FOXG1	ORPHA:261144
HP:0000581	Blepharophimosis	29895	MYL11	OMIM:619110
HP:0000581	Blepharophimosis	22931	RAB18	OMIM:614222
HP:0000581	Blepharophimosis	284252	KCTD1	OMIM:181270
HP:0000581	Blepharophimosis	54880	BCOR	OMIM:300166
HP:0000581	Blepharophimosis	203068	TUBB	OMIM:156610
HP:0000581	Blepharophimosis	9702	CEP57	OMIM:614114
HP:0000581	Blepharophimosis	8450	CUL4B	ORPHA:85293
HP:0000581	Blepharophimosis	6299	SALL1	ORPHA:857
HP:0000581	Blepharophimosis	51339	DACT1	ORPHA:857
HP:0000581	Blepharophimosis	22995	CEP152	OMIM:613823
HP:0000581	Blepharophimosis	9759	HDAC4	OMIM:600430
HP:0000581	Blepharophimosis	2177	FANCD2	OMIM:227646
HP:0000581	Blepharophimosis	4781	NFIB	OMIM:618286
HP:0000581	Blepharophimosis	55733	HHAT	ORPHA:1422
HP:0000581	Blepharophimosis	84464	SLX4	OMIM:613951
HP:0000581	Blepharophimosis	5557	PRIM1	OMIM:620005
HP:0000581	Blepharophimosis	10269	ZMPSTE24	OMIM:275210
HP:0000581	Blepharophimosis	6913	TBX15	ORPHA:93333
HP:0000581	Blepharophimosis	6913	TBX15	OMIM:260660
HP:0000581	Blepharophimosis	11011	TLK2	OMIM:618050
HP:0000581	Blepharophimosis	23102	TBC1D2B	ORPHA:397973
HP:0000581	Blepharophimosis	672	BRCA1	OMIM:617883
HP:0000581	Blepharophimosis	4921	DDR2	OMIM:618175
HP:0000581	Blepharophimosis	523	ATP6V1A	OMIM:617403
HP:0000581	Blepharophimosis	529	ATP6V1E1	OMIM:617402
HP:0000581	Blepharophimosis	246329	STAC3	OMIM:255995
HP:0000581	Blepharophimosis	9935	MAFB	OMIM:617041
HP:0000581	Blepharophimosis	57167	SALL4	OMIM:607323
HP:0000581	Blepharophimosis	387	RHOA	OMIM:618727
HP:0000581	Blepharophimosis	79718	TBL1XR1	OMIM:602342
HP:0000581	Blepharophimosis	6595	SMARCA2	OMIM:601358
HP:0000581	Blepharophimosis	84570	COL25A1	ORPHA:91411
HP:0000581	Blepharophimosis	79776	ZFHX4	ORPHA:91411
HP:0000508	Ptosis	26191	PTPN22	ORPHA:397
HP:0000508	Ptosis	3106	HLA-B	ORPHA:397
HP:0000508	Ptosis	3123	HLA-DRB1	ORPHA:397
HP:0000508	Ptosis	8974	P4HA2	ORPHA:397
HP:0000508	Ptosis	7528	YY1	ORPHA:506358
HP:0000508	Ptosis	7528	YY1	OMIM:617557
HP:0000508	Ptosis	8036	SHOC2	OMIM:607721
HP:0000508	Ptosis	2673	GFPT1	OMIM:608931
HP:0000508	Ptosis	2673	GFPT1	OMIM:610542
HP:0000508	Ptosis	2673	GFPT1	ORPHA:353327
HP:0000508	Ptosis	1145	CHRNE	OMIM:608931
HP:0000508	Ptosis	1145	CHRNE	OMIM:616324
HP:0000508	Ptosis	1145	CHRNE	OMIM:605809
HP:0000508	Ptosis	1145	CHRNE	ORPHA:98913
HP:0000508	Ptosis	4287	ATXN3	OMIM:109150
HP:0000508	Ptosis	23141	ANKLE2	OMIM:616681
HP:0000508	Ptosis	54539	NDUFB11	ORPHA:2609
HP:0000508	Ptosis	25915	NDUFAF3	ORPHA:2609
HP:0000508	Ptosis	51103	NDUFAF1	ORPHA:2609
HP:0000508	Ptosis	91942	NDUFAF2	ORPHA:2609
HP:0000508	Ptosis	91942	NDUFAF2	ORPHA:255241
HP:0000508	Ptosis	51300	TIMMDC1	ORPHA:2609
HP:0000508	Ptosis	4716	NDUFB10	ORPHA:2609
HP:0000508	Ptosis	4723	NDUFV1	ORPHA:2609
HP:0000508	Ptosis	4723	NDUFV1	OMIM:618225
HP:0000508	Ptosis	4723	NDUFV1	ORPHA:255241
HP:0000508	Ptosis	55572	FOXRED1	ORPHA:2609
HP:0000508	Ptosis	55572	FOXRED1	ORPHA:255241
HP:0000508	Ptosis	284184	NDUFAF8	ORPHA:2609
HP:0000508	Ptosis	55863	TMEM126B	ORPHA:2609
HP:0000508	Ptosis	4535	MT-ND1	ORPHA:2609
HP:0000508	Ptosis	4537	MT-ND3	ORPHA:2609
HP:0000508	Ptosis	4729	NDUFV2	ORPHA:2609
HP:0000508	Ptosis	4729	NDUFV2	ORPHA:255241
HP:0000508	Ptosis	4694	NDUFA1	ORPHA:2609
HP:0000508	Ptosis	4720	NDUFS2	ORPHA:2609
HP:0000508	Ptosis	4720	NDUFS2	ORPHA:255241
HP:0000508	Ptosis	4724	NDUFS4	ORPHA:2609
HP:0000508	Ptosis	4724	NDUFS4	ORPHA:255241
HP:0000508	Ptosis	4724	NDUFS4	OMIM:252010
HP:0000508	Ptosis	4726	NDUFS6	ORPHA:2609
HP:0000508	Ptosis	4728	NDUFS8	ORPHA:2609
HP:0000508	Ptosis	4728	NDUFS8	ORPHA:255241
HP:0000508	Ptosis	4722	NDUFS3	ORPHA:2609
HP:0000508	Ptosis	4722	NDUFS3	ORPHA:255241
HP:0000508	Ptosis	79133	NDUFAF5	ORPHA:2609
HP:0000508	Ptosis	79133	NDUFAF5	OMIM:618238
HP:0000508	Ptosis	79133	NDUFAF5	ORPHA:255241
HP:0000508	Ptosis	126328	NDUFA11	ORPHA:2609
HP:0000508	Ptosis	4709	NDUFB3	ORPHA:2609
HP:0000508	Ptosis	80224	NUBPL	ORPHA:2609
HP:0000508	Ptosis	29078	NDUFAF4	ORPHA:2609
HP:0000508	Ptosis	374291	NDUFS7	ORPHA:2609
HP:0000508	Ptosis	374291	NDUFS7	ORPHA:255241
HP:0000508	Ptosis	4700	NDUFA6	ORPHA:2609
HP:0000508	Ptosis	4536	MT-ND2	ORPHA:2609
HP:0000508	Ptosis	4719	NDUFS1	ORPHA:2609
HP:0000508	Ptosis	4719	NDUFS1	OMIM:618226
HP:0000508	Ptosis	4719	NDUFS1	ORPHA:255241
HP:0000508	Ptosis	4715	NDUFB9	ORPHA:2609
HP:0000508	Ptosis	10617	STAMBP	OMIM:614261
HP:0000508	Ptosis	8216	LZTR1	OMIM:616564
HP:0000508	Ptosis	8216	LZTR1	ORPHA:648
HP:0000508	Ptosis	8216	LZTR1	OMIM:605275
HP:0000508	Ptosis	1144	CHRND	OMIM:616322
HP:0000508	Ptosis	1144	CHRND	OMIM:616321
HP:0000508	Ptosis	1144	CHRND	OMIM:616323
HP:0000508	Ptosis	1144	CHRND	ORPHA:98913
HP:0000508	Ptosis	29925	GMPPB	OMIM:615351
HP:0000508	Ptosis	29925	GMPPB	ORPHA:353327
HP:0000508	Ptosis	5913	RAPSN	OMIM:616326
HP:0000508	Ptosis	5913	RAPSN	ORPHA:98913
HP:0000508	Ptosis	4593	MUSK	OMIM:616325
HP:0000508	Ptosis	4593	MUSK	OMIM:208150
HP:0000508	Ptosis	4593	MUSK	ORPHA:98913
HP:0000508	Ptosis	1024	CDK8	OMIM:618748
HP:0000508	Ptosis	23334	SZT2	OMIM:615476
HP:0000508	Ptosis	23334	SZT2	ORPHA:442835
HP:0000508	Ptosis	6016	RIT1	OMIM:615355
HP:0000508	Ptosis	6016	RIT1	ORPHA:648
HP:0000508	Ptosis	4204	MECP2	ORPHA:1762
HP:0000508	Ptosis	4204	MECP2	OMIM:300260
HP:0000508	Ptosis	81857	MED25	OMIM:616449
HP:0000508	Ptosis	81857	MED25	ORPHA:464738
HP:0000508	Ptosis	7021	TFAP2B	OMIM:169100
HP:0000508	Ptosis	7021	TFAP2B	ORPHA:46627
HP:0000508	Ptosis	5361	PLXNA1	OMIM:619955
HP:0000508	Ptosis	84334	COA8	ORPHA:436271
HP:0000508	Ptosis	2261	FGFR3	ORPHA:53271
HP:0000508	Ptosis	2261	FGFR3	ORPHA:794
HP:0000508	Ptosis	2261	FGFR3	OMIM:602849
HP:0000508	Ptosis	2261	FGFR3	ORPHA:93262
HP:0000508	Ptosis	2261	FGFR3	ORPHA:2363
HP:0000508	Ptosis	84942	WDR73	OMIM:251300
HP:0000508	Ptosis	1134	CHRNA1	OMIM:608930
HP:0000508	Ptosis	1134	CHRNA1	OMIM:601462
HP:0000508	Ptosis	1134	CHRNA1	ORPHA:98913
HP:0000508	Ptosis	91147	TMEM67	OMIM:602152
HP:0000508	Ptosis	91147	TMEM67	ORPHA:475
HP:0000508	Ptosis	91147	TMEM67	ORPHA:140976
HP:0000508	Ptosis	91147	TMEM67	OMIM:216360
HP:0000508	Ptosis	91147	TMEM67	ORPHA:1454
HP:0000508	Ptosis	3190	HNRNPK	ORPHA:453504
HP:0000508	Ptosis	3190	HNRNPK	OMIM:616580
HP:0000508	Ptosis	3190	HNRNPK	ORPHA:352665
HP:0000508	Ptosis	267010	RNU12	OMIM:603116
HP:0000508	Ptosis	9578	CDC42BPB	OMIM:619841
HP:0000508	Ptosis	65993	MRPS34	OMIM:617664
HP:0000508	Ptosis	6536	SLC6A9	OMIM:617301
HP:0000508	Ptosis	375790	AGRN	OMIM:615120
HP:0000508	Ptosis	375790	AGRN	ORPHA:98914
HP:0000508	Ptosis	375790	AGRN	ORPHA:98913
HP:0000508	Ptosis	6616	SNAP25	OMIM:616330
HP:0000508	Ptosis	6616	SNAP25	ORPHA:98914
HP:0000508	Ptosis	10528	NOP56	OMIM:614153
HP:0000508	Ptosis	10528	NOP56	ORPHA:276198
HP:0000508	Ptosis	23322	RPGRIP1L	ORPHA:220497
HP:0000508	Ptosis	23322	RPGRIP1L	OMIM:619113
HP:0000508	Ptosis	23322	RPGRIP1L	OMIM:611560
HP:0000508	Ptosis	23322	RPGRIP1L	ORPHA:1454
HP:0000508	Ptosis	4867	NPHP1	ORPHA:220497
HP:0000508	Ptosis	65062	TMEM237	ORPHA:220497
HP:0000508	Ptosis	65062	TMEM237	ORPHA:475
HP:0000508	Ptosis	65062	TMEM237	OMIM:614424
HP:0000508	Ptosis	65062	TMEM237	ORPHA:2318
HP:0000508	Ptosis	101060691	NUTM2B-AS1	OMIM:618637
HP:0000508	Ptosis	4221	MEN1	ORPHA:2965
HP:0000508	Ptosis	64072	CDH23	ORPHA:2965
HP:0000508	Ptosis	64072	CDH23	ORPHA:91347
HP:0000508	Ptosis	9049	AIP	ORPHA:2965
HP:0000508	Ptosis	5184	PEPD	OMIM:170100
HP:0000508	Ptosis	55690	PACS1	OMIM:615009
HP:0000508	Ptosis	54806	AHI1	ORPHA:220493
HP:0000508	Ptosis	54806	AHI1	ORPHA:475
HP:0000508	Ptosis	54806	AHI1	OMIM:608629
HP:0000508	Ptosis	56623	INPP5E	ORPHA:220493
HP:0000508	Ptosis	56623	INPP5E	ORPHA:475
HP:0000508	Ptosis	56623	INPP5E	OMIM:213300
HP:0000508	Ptosis	56623	INPP5E	ORPHA:1454
HP:0000508	Ptosis	153241	CEP120	ORPHA:220493
HP:0000508	Ptosis	153241	CEP120	ORPHA:475
HP:0000508	Ptosis	54903	MKS1	ORPHA:220493
HP:0000508	Ptosis	54903	MKS1	ORPHA:475
HP:0000508	Ptosis	54903	MKS1	OMIM:249000
HP:0000508	Ptosis	95681	CEP41	ORPHA:220493
HP:0000508	Ptosis	95681	CEP41	ORPHA:475
HP:0000508	Ptosis	3149	HMGB3	OMIM:300915
HP:0000508	Ptosis	6595	SMARCA2	ORPHA:2728
HP:0000508	Ptosis	6595	SMARCA2	OMIM:619293
HP:0000508	Ptosis	129563	DIS3L2	ORPHA:2849
HP:0000508	Ptosis	3781	KCNN2	OMIM:619724
HP:0000508	Ptosis	23384	SPECC1L	ORPHA:1519
HP:0000508	Ptosis	55636	CHD7	ORPHA:138
HP:0000508	Ptosis	55636	CHD7	ORPHA:478
HP:0000508	Ptosis	55636	CHD7	OMIM:214800
HP:0000508	Ptosis	9723	SEMA3E	ORPHA:138
HP:0000508	Ptosis	5428	POLG	ORPHA:298
HP:0000508	Ptosis	5428	POLG	ORPHA:254892
HP:0000508	Ptosis	5428	POLG	OMIM:258450
HP:0000508	Ptosis	5428	POLG	ORPHA:254886
HP:0000508	Ptosis	5428	POLG	OMIM:157640
HP:0000508	Ptosis	5428	POLG	OMIM:607459
HP:0000508	Ptosis	5428	POLG	OMIM:603041
HP:0000508	Ptosis	5428	POLG	ORPHA:70595
HP:0000508	Ptosis	1890	TYMP	ORPHA:298
HP:0000508	Ptosis	1890	TYMP	OMIM:603041
HP:0000508	Ptosis	3980	LIG3	ORPHA:298
HP:0000508	Ptosis	50484	RRM2B	ORPHA:298
HP:0000508	Ptosis	50484	RRM2B	OMIM:613077
HP:0000508	Ptosis	50484	RRM2B	ORPHA:254892
HP:0000508	Ptosis	7054	TH	OMIM:605407
HP:0000508	Ptosis	7054	TH	ORPHA:101150
HP:0000508	Ptosis	129685	TAF8	OMIM:619972
HP:0000508	Ptosis	317662	FAM149B1	OMIM:618763
HP:0000508	Ptosis	10584	COLEC10	OMIM:248340
HP:0000508	Ptosis	10584	COLEC10	ORPHA:293843
HP:0000508	Ptosis	284058	KANSL1	ORPHA:363958
HP:0000508	Ptosis	284058	KANSL1	OMIM:610443
HP:0000508	Ptosis	284058	KANSL1	ORPHA:363965
HP:0000508	Ptosis	199857	ALG14	OMIM:616227
HP:0000508	Ptosis	199857	ALG14	ORPHA:353327
HP:0000508	Ptosis	54880	BCOR	ORPHA:2712
HP:0000508	Ptosis	54880	BCOR	OMIM:309800
HP:0000508	Ptosis	54880	BCOR	OMIM:300166
HP:0000508	Ptosis	9581	PREPL	OMIM:616224
HP:0000508	Ptosis	9581	PREPL	ORPHA:163690
HP:0000508	Ptosis	7994	KAT6A	ORPHA:457193
HP:0000508	Ptosis	7994	KAT6A	OMIM:616268
HP:0000508	Ptosis	311	ANXA11	OMIM:619733
HP:0000508	Ptosis	85365	ALG2	OMIM:616228
HP:0000508	Ptosis	85365	ALG2	ORPHA:353327
HP:0000508	Ptosis	1009	CDH11	OMIM:619736
HP:0000508	Ptosis	64359	NXN	ORPHA:1507
HP:0000508	Ptosis	4920	ROR2	ORPHA:1507
HP:0000508	Ptosis	10939	AFG3L2	ORPHA:313772
HP:0000508	Ptosis	10939	AFG3L2	ORPHA:101109
HP:0000508	Ptosis	10939	AFG3L2	OMIM:610246
HP:0000508	Ptosis	10939	AFG3L2	OMIM:614487
HP:0000508	Ptosis	7020	TFAP2A	OMIM:113620
HP:0000508	Ptosis	7020	TFAP2A	ORPHA:1297
HP:0000508	Ptosis	4620	MYH2	OMIM:605637
HP:0000508	Ptosis	1281	COL3A1	ORPHA:286
HP:0000508	Ptosis	8726	EED	OMIM:617561
HP:0000508	Ptosis	10815	CPLX1	ORPHA:280
HP:0000508	Ptosis	10815	CPLX1	OMIM:194190
HP:0000508	Ptosis	54872	PIGG	ORPHA:280
HP:0000508	Ptosis	7469	NELFA	ORPHA:280
HP:0000508	Ptosis	1487	CTBP1	ORPHA:280
HP:0000508	Ptosis	1487	CTBP1	OMIM:194190
HP:0000508	Ptosis	3954	LETM1	ORPHA:280
HP:0000508	Ptosis	3954	LETM1	OMIM:194190
HP:0000508	Ptosis	7468	NSD2	ORPHA:280
HP:0000508	Ptosis	7468	NSD2	OMIM:194190
HP:0000508	Ptosis	5159	PDGFRB	OMIM:616592
HP:0000508	Ptosis	10935	PRDX3	OMIM:619862
HP:0000508	Ptosis	5528	PPP2R5D	OMIM:616355
HP:0000508	Ptosis	4297	KMT2A	ORPHA:319182
HP:0000508	Ptosis	55714	TENM3	OMIM:615145
HP:0000508	Ptosis	84314	TMEM107	OMIM:617563
HP:0000508	Ptosis	80776	B9D2	OMIM:614175
HP:0000508	Ptosis	80776	B9D2	ORPHA:475
HP:0000508	Ptosis	57178	ZMIZ1	OMIM:618659
HP:0000508	Ptosis	246243	RNASEH1	OMIM:616479
HP:0000508	Ptosis	7291	TWIST1	OMIM:101400
HP:0000508	Ptosis	7291	TWIST1	ORPHA:794
HP:0000508	Ptosis	2263	FGFR2	OMIM:101400
HP:0000508	Ptosis	2263	FGFR2	OMIM:123790
HP:0000508	Ptosis	2263	FGFR2	ORPHA:794
HP:0000508	Ptosis	2263	FGFR2	ORPHA:207
HP:0000508	Ptosis	2263	FGFR2	ORPHA:2363
HP:0000508	Ptosis	2263	FGFR2	ORPHA:1555
HP:0000508	Ptosis	2263	FGFR2	ORPHA:1540
HP:0000508	Ptosis	79731	NARS2	OMIM:616239
HP:0000508	Ptosis	3737	KCNA2	ORPHA:442835
HP:0000508	Ptosis	1759	DNM1	ORPHA:442835
HP:0000508	Ptosis	8120	AP3B2	ORPHA:442835
HP:0000508	Ptosis	523	ATP6V1A	ORPHA:442835
HP:0000508	Ptosis	10991	SLC38A3	ORPHA:442835
HP:0000508	Ptosis	51343	FZR1	ORPHA:442835
HP:0000508	Ptosis	22906	TRAK1	ORPHA:442835
HP:0000508	Ptosis	2566	GABRG2	ORPHA:442835
HP:0000508	Ptosis	1917	EEF1A2	ORPHA:442835
HP:0000508	Ptosis	2561	GABRB2	ORPHA:442835
HP:0000508	Ptosis	8831	SYNGAP1	ORPHA:442835
HP:0000508	Ptosis	7532	YWHAG	ORPHA:442835
HP:0000508	Ptosis	79876	UBA5	ORPHA:442835
HP:0000508	Ptosis	6328	SCN3A	ORPHA:442835
HP:0000508	Ptosis	2558	GABRA5	ORPHA:442835
HP:0000508	Ptosis	781	CACNA2D1	ORPHA:442835
HP:0000508	Ptosis	781	CACNA2D1	OMIM:620149
HP:0000508	Ptosis	2906	GRIN2D	ORPHA:442835
HP:0000508	Ptosis	116150	NUS1	ORPHA:442835
HP:0000508	Ptosis	10659	CELF2	ORPHA:442835
HP:0000508	Ptosis	774	CACNA1B	ORPHA:442835
HP:0000508	Ptosis	1213	CLTC	ORPHA:442835
HP:0000508	Ptosis	1213	CLTC	OMIM:617854
HP:0000508	Ptosis	51741	WWOX	ORPHA:442835
HP:0000508	Ptosis	51412	ACTL6B	ORPHA:442835
HP:0000508	Ptosis	348980	HCN1	ORPHA:442835
HP:0000508	Ptosis	6506	SLC1A2	ORPHA:442835
HP:0000508	Ptosis	8867	SYNJ1	ORPHA:442835
HP:0000508	Ptosis	2258	FGF13	ORPHA:442835
HP:0000508	Ptosis	477	ATP1A2	ORPHA:442835
HP:0000508	Ptosis	3745	KCNB1	ORPHA:442835
HP:0000508	Ptosis	284111	SLC13A5	ORPHA:442835
HP:0000508	Ptosis	25977	NECAP1	ORPHA:442835
HP:0000508	Ptosis	16	AARS1	ORPHA:442835
HP:0000508	Ptosis	6334	SCN8A	ORPHA:442835
HP:0000508	Ptosis	22866	CNKSR2	ORPHA:442835
HP:0000508	Ptosis	9568	GABBR2	ORPHA:442835
HP:0000508	Ptosis	2555	GABRA2	ORPHA:442835
HP:0000508	Ptosis	55152	DALRD3	ORPHA:442835
HP:0000508	Ptosis	773	CACNA1A	ORPHA:442835
HP:0000508	Ptosis	26999	CYFIP2	ORPHA:442835
HP:0000508	Ptosis	4915	NTRK2	ORPHA:442835
HP:0000508	Ptosis	25973	PARS2	ORPHA:442835
HP:0000508	Ptosis	23097	CDK19	ORPHA:442835
HP:0000508	Ptosis	64801	ARV1	ORPHA:442835
HP:0000508	Ptosis	79947	DHDDS	ORPHA:442835
HP:0000508	Ptosis	2257	FGF12	ORPHA:442835
HP:0000508	Ptosis	5530	PPP3CA	ORPHA:442835
HP:0000508	Ptosis	478	ATP1A3	ORPHA:442835
HP:0000508	Ptosis	55623	THUMPD1	OMIM:619989
HP:0000508	Ptosis	8642	DCHS1	OMIM:601390
HP:0000508	Ptosis	57167	SALL4	ORPHA:233
HP:0000508	Ptosis	57167	SALL4	ORPHA:959
HP:0000508	Ptosis	9935	MAFB	ORPHA:233
HP:0000508	Ptosis	1123	CHN1	ORPHA:233
HP:0000508	Ptosis	79600	TCTN1	ORPHA:475
HP:0000508	Ptosis	79848	CSPP1	ORPHA:475
HP:0000508	Ptosis	79848	CSPP1	OMIM:615636
HP:0000508	Ptosis	51684	SUFU	ORPHA:475
HP:0000508	Ptosis	65250	CPLANE1	ORPHA:475
HP:0000508	Ptosis	200894	ARL13B	ORPHA:475
HP:0000508	Ptosis	200894	ARL13B	OMIM:612291
HP:0000508	Ptosis	9731	CEP104	ORPHA:475
HP:0000508	Ptosis	219844	HYLS1	ORPHA:475
HP:0000508	Ptosis	23247	KATNIP	ORPHA:475
HP:0000508	Ptosis	23247	KATNIP	OMIM:616784
HP:0000508	Ptosis	219854	TMEM218	ORPHA:475
HP:0000508	Ptosis	9786	KIAA0586	ORPHA:475
HP:0000508	Ptosis	79867	TCTN2	ORPHA:475
HP:0000508	Ptosis	10464	PIBF1	ORPHA:475
HP:0000508	Ptosis	80210	ARMC9	ORPHA:475
HP:0000508	Ptosis	80210	ARMC9	OMIM:617622
HP:0000508	Ptosis	23116	TOGARAM1	ORPHA:475
HP:0000508	Ptosis	23116	TOGARAM1	OMIM:619185
HP:0000508	Ptosis	25776	CBY1	ORPHA:475
HP:0000508	Ptosis	27077	B9D1	ORPHA:475
HP:0000508	Ptosis	403	ARL3	ORPHA:475
HP:0000508	Ptosis	403	ARL3	OMIM:618161
HP:0000508	Ptosis	3981	LIG4	ORPHA:235
HP:0000508	Ptosis	54888	NSUN2	ORPHA:235
HP:0000508	Ptosis	55768	NGLY1	OMIM:615273
HP:0000508	Ptosis	8260	NAA10	OMIM:309800
HP:0000508	Ptosis	63895	PIEZO2	OMIM:114300
HP:0000508	Ptosis	63895	PIEZO2	OMIM:108145
HP:0000508	Ptosis	63895	PIEZO2	ORPHA:1154
HP:0000508	Ptosis	63895	PIEZO2	OMIM:248700
HP:0000508	Ptosis	63895	PIEZO2	ORPHA:2461
HP:0000508	Ptosis	1763	DNA2	OMIM:615156
HP:0000508	Ptosis	8879	SGPL1	OMIM:617575
HP:0000508	Ptosis	7862	BRPF1	OMIM:617333
HP:0000508	Ptosis	57680	CHD8	OMIM:615032
HP:0000508	Ptosis	55699	IARS2	OMIM:616007
HP:0000508	Ptosis	3845	KRAS	OMIM:615278
HP:0000508	Ptosis	3845	KRAS	ORPHA:648
HP:0000508	Ptosis	3845	KRAS	ORPHA:1340
HP:0000508	Ptosis	3845	KRAS	OMIM:609942
HP:0000508	Ptosis	9091	PIGQ	OMIM:618548
HP:0000508	Ptosis	8364	H4C3	OMIM:619758
HP:0000508	Ptosis	6899	TBX1	ORPHA:1727
HP:0000508	Ptosis	6899	TBX1	ORPHA:567
HP:0000508	Ptosis	5605	MAP2K2	OMIM:615280
HP:0000508	Ptosis	5605	MAP2K2	ORPHA:638
HP:0000508	Ptosis	5605	MAP2K2	ORPHA:1340
HP:0000508	Ptosis	26137	ZBTB20	OMIM:259050
HP:0000508	Ptosis	54828	BCAS3	OMIM:619641
HP:0000508	Ptosis	8314	BAP1	OMIM:619762
HP:0000508	Ptosis	27086	FOXP1	ORPHA:391372
HP:0000508	Ptosis	6329	SCN4A	OMIM:614198
HP:0000508	Ptosis	6329	SCN4A	ORPHA:98913
HP:0000508	Ptosis	7358	UGDH	OMIM:618792
HP:0000508	Ptosis	163175	LGI4	OMIM:617468
HP:0000508	Ptosis	200424	TET3	OMIM:618798
HP:0000508	Ptosis	4621	MYH3	OMIM:618436
HP:0000508	Ptosis	4621	MYH3	OMIM:178110
HP:0000508	Ptosis	4621	MYH3	OMIM:193700
HP:0000508	Ptosis	4621	MYH3	ORPHA:2053
HP:0000508	Ptosis	4621	MYH3	ORPHA:2990
HP:0000508	Ptosis	9562	MINPP1	OMIM:619527
HP:0000508	Ptosis	10667	FARS2	ORPHA:466722
HP:0000508	Ptosis	57688	ZSWIM6	OMIM:603671
HP:0000508	Ptosis	57688	ZSWIM6	ORPHA:1827
HP:0000508	Ptosis	4626	MYH8	OMIM:158300
HP:0000508	Ptosis	4626	MYH8	ORPHA:3377
HP:0000508	Ptosis	5339	PLEC	ORPHA:257
HP:0000508	Ptosis	57724	EPG5	OMIM:242840
HP:0000508	Ptosis	7030	TFE3	OMIM:301066
HP:0000508	Ptosis	3423	IDS	OMIM:309900
HP:0000508	Ptosis	3798	KIF5A	OMIM:617235
HP:0000508	Ptosis	10463	SLC30A9	OMIM:617595
HP:0000508	Ptosis	57479	PRR12	OMIM:619539
HP:0000508	Ptosis	6572	SLC18A3	OMIM:617239
HP:0000508	Ptosis	6572	SLC18A3	ORPHA:98914
HP:0000508	Ptosis	2006	ELN	ORPHA:90348
HP:0000508	Ptosis	10516	FBLN5	ORPHA:90348
HP:0000508	Ptosis	5832	ALDH18A1	ORPHA:90348
HP:0000508	Ptosis	25836	NIPBL	OMIM:122470
HP:0000508	Ptosis	25836	NIPBL	ORPHA:199
HP:0000508	Ptosis	6578	SLCO2A1	OMIM:167100
HP:0000508	Ptosis	6578	SLCO2A1	ORPHA:2796
HP:0000508	Ptosis	2303	FOXC2	ORPHA:33001
HP:0000508	Ptosis	2303	FOXC2	OMIM:153400
HP:0000508	Ptosis	3339	HSPG2	OMIM:255800
HP:0000508	Ptosis	3339	HSPG2	ORPHA:800
HP:0000508	Ptosis	84295	PHF6	ORPHA:127
HP:0000508	Ptosis	84295	PHF6	OMIM:301900
HP:0000508	Ptosis	6843	VAMP1	ORPHA:251282
HP:0000508	Ptosis	6843	VAMP1	OMIM:108600
HP:0000508	Ptosis	6843	VAMP1	ORPHA:98914
HP:0000508	Ptosis	257	ALX3	OMIM:136760
HP:0000508	Ptosis	257	ALX3	ORPHA:391474
HP:0000508	Ptosis	10262	SF3B4	ORPHA:245
HP:0000508	Ptosis	6135	RPL11	ORPHA:124
HP:0000508	Ptosis	6138	RPL15	ORPHA:124
HP:0000508	Ptosis	6229	RPS24	ORPHA:124
HP:0000508	Ptosis	6125	RPL5	ORPHA:124
HP:0000508	Ptosis	6204	RPS10	ORPHA:124
HP:0000508	Ptosis	6224	RPS20	ORPHA:124
HP:0000508	Ptosis	6165	RPL35A	ORPHA:124
HP:0000508	Ptosis	2623	GATA1	ORPHA:124
HP:0000508	Ptosis	6223	RPS19	ORPHA:124
HP:0000508	Ptosis	6232	RPS27	ORPHA:124
HP:0000508	Ptosis	6231	RPS26	ORPHA:124
HP:0000508	Ptosis	11224	RPL35	ORPHA:124
HP:0000508	Ptosis	6160	RPL31	ORPHA:124
HP:0000508	Ptosis	6218	RPS17	ORPHA:124
HP:0000508	Ptosis	6201	RPS7	ORPHA:124
HP:0000508	Ptosis	6155	RPL27	ORPHA:124
HP:0000508	Ptosis	6154	RPL26	ORPHA:124
HP:0000508	Ptosis	6210	RPS15A	ORPHA:124
HP:0000508	Ptosis	90121	TSR2	ORPHA:124
HP:0000508	Ptosis	6141	RPL18	ORPHA:124
HP:0000508	Ptosis	6235	RPS29	ORPHA:124
HP:0000508	Ptosis	6234	RPS28	ORPHA:124
HP:0000508	Ptosis	51816	ADA2	ORPHA:124
HP:0000508	Ptosis	1387	CREBBP	OMIM:618332
HP:0000508	Ptosis	1387	CREBBP	OMIM:180849
HP:0000508	Ptosis	1387	CREBBP	ORPHA:353277
HP:0000508	Ptosis	6261	RYR1	OMIM:619542
HP:0000508	Ptosis	6261	RYR1	ORPHA:424107
HP:0000508	Ptosis	6261	RYR1	OMIM:255320
HP:0000508	Ptosis	6261	RYR1	ORPHA:169189
HP:0000508	Ptosis	6261	RYR1	ORPHA:98905
HP:0000508	Ptosis	10533	ATG7	OMIM:619422
HP:0000508	Ptosis	4633	MYL2	OMIM:619424
HP:0000508	Ptosis	8621	CDK13	OMIM:617360
HP:0000508	Ptosis	9427	ECEL1	OMIM:615065
HP:0000508	Ptosis	3658	IREB2	OMIM:618451
HP:0000508	Ptosis	84188	FAR1	OMIM:616154
HP:0000508	Ptosis	84188	FAR1	ORPHA:438178
HP:0000508	Ptosis	5081	PAX7	OMIM:618578
HP:0000508	Ptosis	6654	SOS1	OMIM:610733
HP:0000508	Ptosis	6654	SOS1	ORPHA:648
HP:0000508	Ptosis	389827	MYMK	OMIM:254940
HP:0000508	Ptosis	389827	MYMK	ORPHA:1358
HP:0000508	Ptosis	8803	SUCLA2	ORPHA:1933
HP:0000508	Ptosis	8803	SUCLA2	OMIM:612073
HP:0000508	Ptosis	7273	TTN	OMIM:611705
HP:0000508	Ptosis	2260	FGFR1	ORPHA:478
HP:0000508	Ptosis	2260	FGFR1	ORPHA:2117
HP:0000508	Ptosis	10371	SEMA3A	ORPHA:478
HP:0000508	Ptosis	81848	SPRY4	ORPHA:478
HP:0000508	Ptosis	23767	FLRT3	ORPHA:478
HP:0000508	Ptosis	128674	PROKR2	ORPHA:478
HP:0000508	Ptosis	79625	NDNF	ORPHA:478
HP:0000508	Ptosis	2253	FGF8	ORPHA:478
HP:0000508	Ptosis	389549	FEZF1	ORPHA:478
HP:0000508	Ptosis	1630	DCC	ORPHA:478
HP:0000508	Ptosis	3730	ANOS1	ORPHA:478
HP:0000508	Ptosis	54756	IL17RD	ORPHA:478
HP:0000508	Ptosis	6663	SOX10	ORPHA:478
HP:0000508	Ptosis	6663	SOX10	ORPHA:895
HP:0000508	Ptosis	285025	CCDC141	ORPHA:478
HP:0000508	Ptosis	60675	PROK2	ORPHA:478
HP:0000508	Ptosis	1848	DUSP6	ORPHA:478
HP:0000508	Ptosis	6870	TACR3	ORPHA:478
HP:0000508	Ptosis	55717	WDR11	ORPHA:478
HP:0000508	Ptosis	9394	HS6ST1	ORPHA:478
HP:0000508	Ptosis	8820	HESX1	ORPHA:478
HP:0000508	Ptosis	8822	FGF17	ORPHA:478
HP:0000508	Ptosis	5813	PURA	ORPHA:314655
HP:0000508	Ptosis	157570	ESCO2	OMIM:216100
HP:0000508	Ptosis	157570	ESCO2	ORPHA:2319
HP:0000508	Ptosis	2737	GLI3	ORPHA:672
HP:0000508	Ptosis	3479	IGF1	ORPHA:73272
HP:0000508	Ptosis	3479	IGF1	OMIM:608747
HP:0000508	Ptosis	291	SLC25A4	ORPHA:254892
HP:0000508	Ptosis	291	SLC25A4	OMIM:609283
HP:0000508	Ptosis	56652	TWNK	ORPHA:254892
HP:0000508	Ptosis	56652	TWNK	OMIM:609286
HP:0000508	Ptosis	56652	TWNK	OMIM:607459
HP:0000508	Ptosis	56652	TWNK	ORPHA:70595
HP:0000508	Ptosis	11232	POLG2	ORPHA:254892
HP:0000508	Ptosis	11232	POLG2	OMIM:610131
HP:0000508	Ptosis	9361	LONP1	OMIM:600373
HP:0000508	Ptosis	9361	LONP1	ORPHA:1458
HP:0000508	Ptosis	353116	RILPL1	OMIM:619790
HP:0000508	Ptosis	55217	TMLHE	OMIM:300872
HP:0000508	Ptosis	5898	RALA	OMIM:619311
HP:0000508	Ptosis	5351	PLOD1	OMIM:225400
HP:0000508	Ptosis	6477	SIAH1	OMIM:619314
HP:0000508	Ptosis	23345	SYNE1	ORPHA:88644
HP:0000508	Ptosis	23345	SYNE1	OMIM:610743
HP:0000508	Ptosis	23345	SYNE1	ORPHA:98853
HP:0000508	Ptosis	10765	KDM5B	OMIM:618109
HP:0000508	Ptosis	79912	PYROXD1	OMIM:617258
HP:0000508	Ptosis	9256	TSPOAP1	ORPHA:101150
HP:0000508	Ptosis	2671	GFER	ORPHA:330054
HP:0000508	Ptosis	27235	COQ2	OMIM:146500
HP:0000508	Ptosis	27125	AFF4	ORPHA:444077
HP:0000508	Ptosis	4568	MT-TL2	ORPHA:663
HP:0000508	Ptosis	4567	MT-TL1	ORPHA:663
HP:0000508	Ptosis	4570	MT-TN	ORPHA:663
HP:0000508	Ptosis	4570	MT-TN	OMIM:220110
HP:0000508	Ptosis	4574	MT-TS1	ORPHA:663
HP:0000508	Ptosis	4574	MT-TS1	OMIM:220110
HP:0000508	Ptosis	55869	HDAC8	OMIM:300882
HP:0000508	Ptosis	55869	HDAC8	ORPHA:199
HP:0000508	Ptosis	60482	SLC5A7	OMIM:617143
HP:0000508	Ptosis	60482	SLC5A7	ORPHA:98914
HP:0000508	Ptosis	7084	TK2	ORPHA:254886
HP:0000508	Ptosis	7084	TK2	OMIM:617069
HP:0000508	Ptosis	3714	JAG2	OMIM:619566
HP:0000508	Ptosis	92667	MGME1	OMIM:615084
HP:0000508	Ptosis	92667	MGME1	ORPHA:352447
HP:0000508	Ptosis	57520	HECW2	OMIM:617268
HP:0000508	Ptosis	79048	SECISBP2	ORPHA:171706
HP:0000508	Ptosis	2033	EP300	ORPHA:353284
HP:0000508	Ptosis	2033	EP300	OMIM:180849
HP:0000508	Ptosis	26128	KIFBP	ORPHA:66629
HP:0000508	Ptosis	26128	KIFBP	OMIM:609460
HP:0000508	Ptosis	9126	SMC3	OMIM:610759
HP:0000508	Ptosis	9126	SMC3	ORPHA:199
HP:0000508	Ptosis	4763	NF1	OMIM:601321
HP:0000508	Ptosis	4763	NF1	ORPHA:638
HP:0000508	Ptosis	10059	DNM1L	ORPHA:98673
HP:0000508	Ptosis	4976	OPA1	ORPHA:98673
HP:0000508	Ptosis	4976	OPA1	OMIM:125250
HP:0000508	Ptosis	473	RERE	ORPHA:494344
HP:0000508	Ptosis	5980	REV3L	ORPHA:570
HP:0000508	Ptosis	23129	PLXND1	ORPHA:570
HP:0000508	Ptosis	22930	RAB3GAP1	OMIM:600118
HP:0000508	Ptosis	57007	ACKR3	OMIM:619215
HP:0000508	Ptosis	1621	DBH	OMIM:223360
HP:0000508	Ptosis	6601	SMARCC2	OMIM:618362
HP:0000508	Ptosis	6601	SMARCC2	ORPHA:1465
HP:0000508	Ptosis	54496	PRMT7	OMIM:617157
HP:0000508	Ptosis	165	AEBP1	OMIM:618000
HP:0000508	Ptosis	1108	CHD4	OMIM:617159
HP:0000508	Ptosis	4000	LMNA	OMIM:212112
HP:0000508	Ptosis	4000	LMNA	ORPHA:2229
HP:0000508	Ptosis	4000	LMNA	ORPHA:98853
HP:0000508	Ptosis	2077	ERF	ORPHA:207
HP:0000508	Ptosis	23389	MED13L	ORPHA:369891
HP:0000508	Ptosis	1312	COMT	ORPHA:567
HP:0000508	Ptosis	221037	JMJD1C	ORPHA:567
HP:0000508	Ptosis	2812	GP1BB	ORPHA:567
HP:0000508	Ptosis	6239	RREB1	ORPHA:567
HP:0000508	Ptosis	7290	HIRA	ORPHA:567
HP:0000508	Ptosis	9632	SEC24C	ORPHA:567
HP:0000508	Ptosis	7353	UFD1	ORPHA:567
HP:0000508	Ptosis	421	ARVCF	ORPHA:567
HP:0000508	Ptosis	5805	PTS	ORPHA:13
HP:0000508	Ptosis	4547	MTTP	ORPHA:14
HP:0000508	Ptosis	112812	FDX2	OMIM:251900
HP:0000508	Ptosis	2064	ERBB2	OMIM:619465
HP:0000508	Ptosis	22808	MRAS	OMIM:618499
HP:0000508	Ptosis	22808	MRAS	ORPHA:648
HP:0000508	Ptosis	7317	UBA1	OMIM:301830
HP:0000508	Ptosis	8802	SUCLG1	ORPHA:17
HP:0000508	Ptosis	26040	SETBP1	OMIM:616078
HP:0000508	Ptosis	5144	PDE4D	ORPHA:439822
HP:0000508	Ptosis	2065	ERBB3	OMIM:243180
HP:0000508	Ptosis	5660	PSAP	OMIM:610539
HP:0000508	Ptosis	668	FOXL2	OMIM:110100
HP:0000508	Ptosis	668	FOXL2	ORPHA:572333
HP:0000508	Ptosis	10771	ZMYND11	OMIM:616083
HP:0000508	Ptosis	57003	CCDC47	OMIM:618268
HP:0000508	Ptosis	10526	IPO8	OMIM:619472
HP:0000508	Ptosis	2892	GRIA3	ORPHA:364028
HP:0000508	Ptosis	145173	B3GLCT	OMIM:261540
HP:0000508	Ptosis	9968	MED12	OMIM:309520
HP:0000508	Ptosis	9968	MED12	OMIM:300895
HP:0000508	Ptosis	80036	TRPM3	OMIM:620224
HP:0000508	Ptosis	3248	HPGD	OMIM:259100
HP:0000508	Ptosis	3248	HPGD	ORPHA:2796
HP:0000508	Ptosis	5781	PTPN11	ORPHA:500
HP:0000508	Ptosis	5781	PTPN11	ORPHA:648
HP:0000508	Ptosis	5781	PTPN11	OMIM:151100
HP:0000508	Ptosis	5781	PTPN11	OMIM:163950
HP:0000508	Ptosis	673	BRAF	ORPHA:500
HP:0000508	Ptosis	673	BRAF	OMIM:115150
HP:0000508	Ptosis	673	BRAF	ORPHA:1340
HP:0000508	Ptosis	673	BRAF	OMIM:163950
HP:0000508	Ptosis	5894	RAF1	ORPHA:500
HP:0000508	Ptosis	5894	RAF1	ORPHA:648
HP:0000508	Ptosis	5894	RAF1	OMIM:611553
HP:0000508	Ptosis	5728	PTEN	ORPHA:744
HP:0000508	Ptosis	207	AKT1	ORPHA:744
HP:0000508	Ptosis	207	AKT1	OMIM:176920
HP:0000508	Ptosis	51360	MBTPS2	OMIM:308205
HP:0000508	Ptosis	1457	CSNK2A1	OMIM:617062
HP:0000508	Ptosis	7204	TRIO	OMIM:617061
HP:0000508	Ptosis	374879	ZNF699	OMIM:619488
HP:0000508	Ptosis	4617	MYF5	OMIM:618155
HP:0000508	Ptosis	226	ALDOA	OMIM:611881
HP:0000508	Ptosis	7169	TPM2	OMIM:108120
HP:0000508	Ptosis	7169	TPM2	ORPHA:171436
HP:0000508	Ptosis	7169	TPM2	ORPHA:171439
HP:0000508	Ptosis	5080	PAX6	ORPHA:893
HP:0000508	Ptosis	5080	PAX6	OMIM:106210
HP:0000508	Ptosis	627	BDNF	ORPHA:893
HP:0000508	Ptosis	7490	WT1	ORPHA:893
HP:0000508	Ptosis	7490	WT1	OMIM:106210
HP:0000508	Ptosis	55252	ASXL2	OMIM:617190
HP:0000508	Ptosis	4286	MITF	ORPHA:895
HP:0000508	Ptosis	7299	TYR	ORPHA:895
HP:0000508	Ptosis	6591	SNAI2	ORPHA:895
HP:0000508	Ptosis	1910	EDNRB	ORPHA:895
HP:0000508	Ptosis	4254	KITLG	ORPHA:895
HP:0000508	Ptosis	5264	PHYH	ORPHA:773
HP:0000508	Ptosis	5264	PHYH	OMIM:266500
HP:0000508	Ptosis	5191	PEX7	ORPHA:773
HP:0000508	Ptosis	5191	PEX7	OMIM:266500
HP:0000508	Ptosis	5077	PAX3	ORPHA:894
HP:0000508	Ptosis	4140	MARK3	OMIM:618283
HP:0000508	Ptosis	80267	EDEM3	OMIM:619493
HP:0000508	Ptosis	1716	DGUOK	OMIM:617070
HP:0000508	Ptosis	2629	GBA1	ORPHA:2072
HP:0000508	Ptosis	6571	SLC18A2	OMIM:618049
HP:0000508	Ptosis	6571	SLC18A2	ORPHA:352649
HP:0000508	Ptosis	84231	TRAF7	OMIM:618164
HP:0000508	Ptosis	2733	GLE1	OMIM:611890
HP:0000508	Ptosis	9487	PIGL	OMIM:280000
HP:0000508	Ptosis	9487	PIGL	ORPHA:3474
HP:0000508	Ptosis	9997	SCO2	ORPHA:521411
HP:0000508	Ptosis	22800	RRAS2	ORPHA:648
HP:0000508	Ptosis	867	CBL	ORPHA:648
HP:0000508	Ptosis	867	CBL	OMIM:613563
HP:0000508	Ptosis	6237	RRAS	ORPHA:648
HP:0000508	Ptosis	200734	SPRED2	ORPHA:648
HP:0000508	Ptosis	4893	NRAS	ORPHA:648
HP:0000508	Ptosis	6655	SOS2	ORPHA:648
HP:0000508	Ptosis	6655	SOS2	OMIM:616559
HP:0000508	Ptosis	5922	RASA2	ORPHA:648
HP:0000508	Ptosis	83737	ITCH	ORPHA:228426
HP:0000508	Ptosis	83737	ITCH	OMIM:613385
HP:0000508	Ptosis	124454	EARS2	OMIM:614924
HP:0000508	Ptosis	54936	ADPRS	OMIM:618170
HP:0000508	Ptosis	11011	TLK2	OMIM:618050
HP:0000508	Ptosis	4038	LRP4	ORPHA:3152
HP:0000508	Ptosis	4038	LRP4	ORPHA:3258
HP:0000508	Ptosis	4038	LRP4	ORPHA:98913
HP:0000508	Ptosis	4038	LRP4	OMIM:616304
HP:0000508	Ptosis	50964	SOST	ORPHA:3152
HP:0000508	Ptosis	7042	TGFB2	OMIM:614816
HP:0000508	Ptosis	8085	KMT2D	OMIM:147920
HP:0000508	Ptosis	8085	KMT2D	ORPHA:2322
HP:0000508	Ptosis	7403	KDM6A	OMIM:147920
HP:0000508	Ptosis	7403	KDM6A	ORPHA:2322
HP:0000508	Ptosis	8243	SMC1A	OMIM:300590
HP:0000508	Ptosis	8243	SMC1A	ORPHA:199
HP:0000508	Ptosis	6535	SLC6A8	OMIM:300352
HP:0000508	Ptosis	6535	SLC6A8	ORPHA:52503
HP:0000508	Ptosis	259232	NALCN	ORPHA:2053
HP:0000508	Ptosis	91574	MTRFR	ORPHA:254930
HP:0000508	Ptosis	91574	MTRFR	OMIM:613559
HP:0000508	Ptosis	6309	SC5D	ORPHA:46059
HP:0000508	Ptosis	6309	SC5D	OMIM:607330
HP:0000508	Ptosis	6834	SURF1	OMIM:220110
HP:0000508	Ptosis	6834	SURF1	ORPHA:255241
HP:0000508	Ptosis	8506	CNTNAP1	OMIM:618186
HP:0000508	Ptosis	161742	SPRED1	OMIM:611431
HP:0000508	Ptosis	400916	CHCHD10	OMIM:615911
HP:0000508	Ptosis	400916	CHCHD10	ORPHA:275872
HP:0000508	Ptosis	2316	FLNA	OMIM:314400
HP:0000508	Ptosis	2316	FLNA	OMIM:300244
HP:0000508	Ptosis	10992	SF3B2	OMIM:164210
HP:0000508	Ptosis	2521	FUS	ORPHA:275872
HP:0000508	Ptosis	8878	SQSTM1	ORPHA:275872
HP:0000508	Ptosis	7415	VCP	ORPHA:275872
HP:0000508	Ptosis	23435	TARDBP	ORPHA:275872
HP:0000508	Ptosis	29110	TBK1	ORPHA:275872
HP:0000508	Ptosis	9839	ZEB2	OMIM:235730
HP:0000508	Ptosis	9839	ZEB2	ORPHA:261552
HP:0000508	Ptosis	9839	ZEB2	ORPHA:261537
HP:0000508	Ptosis	1299	COL9A3	OMIM:620022
HP:0000508	Ptosis	57176	VARS2	OMIM:615917
HP:0000508	Ptosis	23118	TAB2	ORPHA:228410
HP:0000508	Ptosis	58	ACTA1	ORPHA:171436
HP:0000508	Ptosis	58	ACTA1	ORPHA:171439
HP:0000508	Ptosis	4703	NEB	ORPHA:171436
HP:0000508	Ptosis	4703	NEB	ORPHA:171439
HP:0000508	Ptosis	10324	KLHL41	ORPHA:171436
HP:0000508	Ptosis	10324	KLHL41	ORPHA:171439
HP:0000508	Ptosis	56203	LMOD3	ORPHA:171436
HP:0000508	Ptosis	1073	CFL2	ORPHA:171436
HP:0000508	Ptosis	1278	COL1A2	ORPHA:230851
HP:0000508	Ptosis	89910	UBE3B	OMIM:244450
HP:0000508	Ptosis	6576	SLC25A1	OMIM:618197
HP:0000508	Ptosis	6576	SLC25A1	ORPHA:98914
HP:0000508	Ptosis	4649	MYO9A	OMIM:618198
HP:0000508	Ptosis	4649	MYO9A	ORPHA:98914
HP:0000508	Ptosis	1352	COX10	OMIM:619046
HP:0000508	Ptosis	2911	GRM1	OMIM:614831
HP:0000508	Ptosis	2911	GRM1	ORPHA:324262
HP:0000508	Ptosis	1717	DHCR7	ORPHA:818
HP:0000508	Ptosis	1717	DHCR7	OMIM:270400
HP:0000508	Ptosis	4884	NPTX1	OMIM:620158
HP:0000508	Ptosis	324	APC	ORPHA:3258
HP:0000508	Ptosis	1798	DPAGT1	ORPHA:353327
HP:0000508	Ptosis	1798	DPAGT1	OMIM:614750
HP:0000508	Ptosis	1146	CHRNG	OMIM:265000
HP:0000508	Ptosis	1146	CHRNG	ORPHA:2990
HP:0000508	Ptosis	57492	ARID1B	OMIM:135900
HP:0000508	Ptosis	57492	ARID1B	ORPHA:1465
HP:0000508	Ptosis	10381	TUBB3	OMIM:600638
HP:0000508	Ptosis	274	BIN1	OMIM:255200
HP:0000508	Ptosis	274	BIN1	ORPHA:169189
HP:0000508	Ptosis	55157	DARS2	ORPHA:137898
HP:0000508	Ptosis	8289	ARID1A	OMIM:614607
HP:0000508	Ptosis	8289	ARID1A	ORPHA:1465
HP:0000508	Ptosis	29967	LRP12	OMIM:164310
HP:0000508	Ptosis	672	BRCA1	ORPHA:84
HP:0000508	Ptosis	10459	MAD2L2	ORPHA:84
HP:0000508	Ptosis	7516	XRCC2	ORPHA:84
HP:0000508	Ptosis	29089	UBE2T	ORPHA:84
HP:0000508	Ptosis	675	BRCA2	ORPHA:84
HP:0000508	Ptosis	55120	FANCL	ORPHA:84
HP:0000508	Ptosis	2177	FANCD2	ORPHA:84
HP:0000508	Ptosis	2175	FANCA	ORPHA:84
HP:0000508	Ptosis	2187	FANCB	ORPHA:84
HP:0000508	Ptosis	2176	FANCC	ORPHA:84
HP:0000508	Ptosis	2178	FANCE	ORPHA:84
HP:0000508	Ptosis	2188	FANCF	ORPHA:84
HP:0000508	Ptosis	2189	FANCG	ORPHA:84
HP:0000508	Ptosis	5888	RAD51	ORPHA:84
HP:0000508	Ptosis	5889	RAD51C	ORPHA:84
HP:0000508	Ptosis	55159	RFWD3	ORPHA:84
HP:0000508	Ptosis	83990	BRIP1	ORPHA:84
HP:0000508	Ptosis	57697	FANCM	ORPHA:84
HP:0000508	Ptosis	79728	PALB2	ORPHA:84
HP:0000508	Ptosis	84464	SLX4	ORPHA:84
HP:0000508	Ptosis	2072	ERCC4	ORPHA:84
HP:0000508	Ptosis	55215	FANCI	ORPHA:84
HP:0000508	Ptosis	6598	SMARCB1	OMIM:614608
HP:0000508	Ptosis	6598	SMARCB1	ORPHA:1465
HP:0000508	Ptosis	7276	TTR	OMIM:105210
HP:0000508	Ptosis	6597	SMARCA4	OMIM:614609
HP:0000508	Ptosis	6597	SMARCA4	ORPHA:1465
HP:0000508	Ptosis	10367	MICU1	ORPHA:401768
HP:0000508	Ptosis	10367	MICU1	OMIM:615673
HP:0000508	Ptosis	7466	WFS1	OMIM:222300
HP:0000508	Ptosis	7156	TOP3A	OMIM:618098
HP:0000508	Ptosis	6885	MAP3K7	OMIM:157800
HP:0000508	Ptosis	55148	UBR7	OMIM:619189
HP:0000508	Ptosis	7170	TPM3	OMIM:255310
HP:0000508	Ptosis	7170	TPM3	ORPHA:171439
HP:0000508	Ptosis	1906	EDN1	ORPHA:137888
HP:0000508	Ptosis	5332	PLCB4	ORPHA:137888
HP:0000508	Ptosis	5332	PLCB4	OMIM:614669
HP:0000508	Ptosis	2773	GNAI3	ORPHA:137888
HP:0000508	Ptosis	53834	FGFRL1	OMIM:194190
HP:0000508	Ptosis	3265	HRAS	OMIM:218040
HP:0000508	Ptosis	113278	SLC52A3	OMIM:211530
HP:0000508	Ptosis	113278	SLC52A3	OMIM:211500
HP:0000508	Ptosis	27245	AHDC1	OMIM:615829
HP:0000508	Ptosis	4953	ODC1	OMIM:619075
HP:0000508	Ptosis	10801	SEPTIN9	OMIM:162100
HP:0000508	Ptosis	1267	CNP	OMIM:619071
HP:0000508	Ptosis	149371	EXOC8	OMIM:619076
HP:0000508	Ptosis	1857	DVL3	ORPHA:3107
HP:0000508	Ptosis	7474	WNT5A	ORPHA:3107
HP:0000508	Ptosis	1855	DVL1	ORPHA:3107
HP:0000508	Ptosis	2535	FZD2	ORPHA:3107
HP:0000508	Ptosis	26053	AUTS2	OMIM:615834
HP:0000508	Ptosis	285175	UNC80	OMIM:616801
HP:0000508	Ptosis	90624	LYRM7	OMIM:615838
HP:0000508	Ptosis	8626	TP63	OMIM:129400
HP:0000508	Ptosis	54499	TMCO1	OMIM:213980
HP:0000508	Ptosis	80704	SLC19A3	OMIM:607483
HP:0000508	Ptosis	80704	SLC19A3	ORPHA:255241
HP:0000508	Ptosis	1737	DLAT	OMIM:245348
HP:0000508	Ptosis	78989	COLEC11	OMIM:265050
HP:0000508	Ptosis	78989	COLEC11	ORPHA:293843
HP:0000508	Ptosis	1785	DNM2	OMIM:160150
HP:0000508	Ptosis	1785	DNM2	ORPHA:169189
HP:0000508	Ptosis	64419	MTMR14	OMIM:160150
HP:0000508	Ptosis	64419	MTMR14	ORPHA:169189
HP:0000508	Ptosis	5594	MAPK1	OMIM:619087
HP:0000508	Ptosis	2255	FGF10	ORPHA:2363
HP:0000508	Ptosis	6605	SMARCE1	OMIM:616938
HP:0000508	Ptosis	6605	SMARCE1	ORPHA:1465
HP:0000508	Ptosis	55906	ZC4H2	ORPHA:3454
HP:0000508	Ptosis	55906	ZC4H2	OMIM:301041
HP:0000508	Ptosis	55906	ZC4H2	OMIM:314580
HP:0000508	Ptosis	55129	ANO10	ORPHA:284289
HP:0000508	Ptosis	55670	PEX26	ORPHA:44
HP:0000508	Ptosis	5824	PEX19	ORPHA:44
HP:0000508	Ptosis	5828	PEX2	ORPHA:44
HP:0000508	Ptosis	8504	PEX3	ORPHA:44
HP:0000508	Ptosis	9409	PEX16	ORPHA:44
HP:0000508	Ptosis	5190	PEX6	ORPHA:44
HP:0000508	Ptosis	8799	PEX11B	ORPHA:44
HP:0000508	Ptosis	5830	PEX5	ORPHA:44
HP:0000508	Ptosis	5189	PEX1	ORPHA:44
HP:0000508	Ptosis	5193	PEX12	ORPHA:44
HP:0000508	Ptosis	5194	PEX13	ORPHA:44
HP:0000508	Ptosis	5195	PEX14	ORPHA:44
HP:0000508	Ptosis	5192	PEX10	ORPHA:44
HP:0000508	Ptosis	6949	TCOF1	OMIM:154500
HP:0000508	Ptosis	546	ATRX	OMIM:309580
HP:0000508	Ptosis	6611	SMS	OMIM:309583
HP:0000508	Ptosis	84665	MYPN	ORPHA:171439
HP:0000508	Ptosis	390594	KBTBD13	ORPHA:171439
HP:0000508	Ptosis	84317	CCDC115	OMIM:616828
HP:0000508	Ptosis	81846	SBF2	ORPHA:99956
HP:0000508	Ptosis	2273	FHL1	ORPHA:98863
HP:0000508	Ptosis	2010	EMD	ORPHA:98863
HP:0000508	Ptosis	92154	MTSS2	OMIM:620086
HP:0000508	Ptosis	3098	HK1	OMIM:605285
HP:0000508	Ptosis	5631	PRPS1	OMIM:300661
HP:0000508	Ptosis	55023	PHIP	ORPHA:589905
HP:0000508	Ptosis	29123	ANKRD11	OMIM:148050
HP:0000508	Ptosis	51067	YARS2	OMIM:613561
HP:0000508	Ptosis	2245	FGD1	ORPHA:915
HP:0000508	Ptosis	2245	FGD1	OMIM:305400
HP:0000508	Ptosis	2200	FBN1	ORPHA:2462
HP:0000508	Ptosis	6497	SKI	ORPHA:2462
HP:0000508	Ptosis	6497	SKI	OMIM:182212
HP:0000508	Ptosis	6664	SOX11	OMIM:615866
HP:0000508	Ptosis	6664	SOX11	ORPHA:1465
HP:0000508	Ptosis	23534	TNPO3	OMIM:608423
HP:0000508	Ptosis	10535	RNASEH2A	ORPHA:51
HP:0000508	Ptosis	84153	RNASEH2C	ORPHA:51
HP:0000508	Ptosis	25939	SAMHD1	ORPHA:51
HP:0000508	Ptosis	79621	RNASEH2B	ORPHA:51
HP:0000508	Ptosis	103	ADAR	ORPHA:51
HP:0000508	Ptosis	11277	TREX1	ORPHA:51
HP:0000508	Ptosis	100147744	RNU7-1	ORPHA:51
HP:0000508	Ptosis	134353	LSM11	ORPHA:51
HP:0000508	Ptosis	64135	IFIH1	ORPHA:51
HP:0000508	Ptosis	64135	IFIH1	OMIM:182250
HP:0000508	Ptosis	3720	JARID2	OMIM:620098
HP:0000508	Ptosis	4089	SMAD4	ORPHA:2588
HP:0000508	Ptosis	79188	TMEM43	ORPHA:98853
HP:0000508	Ptosis	23224	SYNE2	ORPHA:98853
HP:0000508	Ptosis	10075	HUWE1	OMIM:309590
HP:0000508	Ptosis	9698	PUM1	OMIM:617931
HP:0000508	Ptosis	5648	MASP1	OMIM:257920
HP:0000508	Ptosis	5648	MASP1	ORPHA:293843
HP:0000508	Ptosis	1305	COL13A1	OMIM:616720
HP:0000508	Ptosis	1305	COL13A1	ORPHA:98914
HP:0000508	Ptosis	1305	COL13A1	ORPHA:98913
HP:0000508	Ptosis	29926	GMPPA	OMIM:615510
HP:0000508	Ptosis	23394	ADNP	OMIM:615873
HP:0000508	Ptosis	80184	CEP290	OMIM:610188
HP:0000508	Ptosis	80184	CEP290	ORPHA:2318
HP:0000508	Ptosis	89970	RSPRY1	OMIM:616723
HP:0000508	Ptosis	7545	ZIC1	OMIM:616602
HP:0000508	Ptosis	7545	ZIC1	OMIM:618736
HP:0000508	Ptosis	4747	NEFL	OMIM:607684
HP:0000508	Ptosis	85358	SHANK3	OMIM:606232
HP:0000508	Ptosis	85358	SHANK3	ORPHA:48652
HP:0000508	Ptosis	23028	KDM1A	OMIM:616728
HP:0000508	Ptosis	4618	MYF6	ORPHA:169189
HP:0000508	Ptosis	4010	LMX1B	OMIM:161200
HP:0000508	Ptosis	57465	TBC1D24	OMIM:220500
HP:0000508	Ptosis	4854	NOTCH3	OMIM:130720
HP:0000508	Ptosis	4854	NOTCH3	ORPHA:2789
HP:0000508	Ptosis	55209	SETD5	OMIM:615761
HP:0000508	Ptosis	5160	PDHA1	OMIM:312170
HP:0000508	Ptosis	5160	PDHA1	ORPHA:255241
HP:0000508	Ptosis	998	CDC42	OMIM:616737
HP:0000508	Ptosis	998	CDC42	ORPHA:487796
HP:0000508	Ptosis	56997	COQ8A	OMIM:612016
HP:0000508	Ptosis	10413	YAP1	ORPHA:1473
HP:0000508	Ptosis	10982	MAPRE2	OMIM:616734
HP:0000508	Ptosis	1644	DDC	OMIM:608643
HP:0000508	Ptosis	26224	FBXL3	OMIM:606220
HP:0000508	Ptosis	101929726	MYMX	ORPHA:1358
HP:0000508	Ptosis	5925	RB1	ORPHA:1587
HP:0000508	Ptosis	6659	SOX4	ORPHA:1465
HP:0000508	Ptosis	5977	DPF2	ORPHA:1465
HP:0000508	Ptosis	6602	SMARCD1	ORPHA:1465
HP:0000508	Ptosis	196528	ARID2	ORPHA:1465
HP:0000508	Ptosis	10616	RBCK1	OMIM:615895
HP:0000508	Ptosis	5604	MAP2K1	ORPHA:1340
HP:0000508	Ptosis	5604	MAP2K1	OMIM:163950
HP:0000508	Ptosis	708	C1QBP	OMIM:617713
HP:0000508	Ptosis	79583	TMEM231	ORPHA:2318
HP:0000508	Ptosis	51524	TMEM138	ORPHA:2318
HP:0000508	Ptosis	23090	ZNF423	ORPHA:2318
HP:0000508	Ptosis	51259	TMEM216	ORPHA:2318
HP:0000508	Ptosis	57545	CC2D2A	ORPHA:2318
HP:0000508	Ptosis	57545	CC2D2A	ORPHA:1454
HP:0000508	Ptosis	7050	TGIF1	OMIM:142946
HP:0000508	Ptosis	9241	NOG	OMIM:186500
HP:0000508	Ptosis	5718	PSMD12	ORPHA:529962
HP:0000508	Ptosis	2186	BPTF	ORPHA:529962
HP:0000508	Ptosis	128637	TBC1D20	OMIM:615663
HP:0000508	Ptosis	79633	FAT4	OMIM:615546
HP:0000508	Ptosis	2239	GPC4	ORPHA:2662
HP:0000508	Ptosis	2313	FLI1	ORPHA:2308
HP:0000508	Ptosis	60	ACTB	OMIM:243310
HP:0000508	Ptosis	60	ACTB	ORPHA:2995
HP:0000508	Ptosis	23476	BRD4	ORPHA:199
HP:0000508	Ptosis	5885	RAD21	ORPHA:199
HP:0000508	Ptosis	71	ACTG1	OMIM:614583
HP:0000508	Ptosis	71	ACTG1	ORPHA:2995
HP:0000508	Ptosis	8092	ALX1	ORPHA:306542
HP:0000508	Ptosis	1103	CHAT	OMIM:254210
HP:0000508	Ptosis	1103	CHAT	ORPHA:98914
HP:0000508	Ptosis	6938	TCF12	OMIM:615314
HP:0000508	Ptosis	84617	TUBB6	OMIM:617732
HP:0000508	Ptosis	1861	TOR1A	OMIM:618947
HP:0000508	Ptosis	4659	PPP1R12A	OMIM:618820
HP:0000508	Ptosis	6697	SPR	ORPHA:70594
HP:0000508	Ptosis	51124	IER3IP1	OMIM:614231
HP:0000508	Ptosis	54870	QRICH1	OMIM:617982
HP:0000508	Ptosis	114928	GPRASP2	OMIM:301018
HP:0000508	Ptosis	28957	MRPS28	OMIM:618958
HP:0000508	Ptosis	3832	KIF11	ORPHA:2526
HP:0000508	Ptosis	2625	GATA3	OMIM:146255
HP:0000508	Ptosis	127833	SYT2	ORPHA:98914
HP:0000508	Ptosis	5500	PPP1CB	OMIM:617506
HP:0000508	Ptosis	8292	COLQ	ORPHA:98915
HP:0000508	Ptosis	8292	COLQ	OMIM:603034
HP:0000508	Ptosis	3913	LAMB2	ORPHA:98915
HP:0000508	Ptosis	6519	SLC3A1	ORPHA:163690
HP:0000508	Ptosis	1140	CHRNB1	ORPHA:98913
HP:0000508	Ptosis	1140	CHRNB1	OMIM:616313
HP:0000508	Ptosis	221264	AK9	ORPHA:98913
HP:0000508	Ptosis	285489	DOK7	ORPHA:98913
HP:0000508	Ptosis	285489	DOK7	OMIM:254300
HP:0000508	Ptosis	617	BCS1L	OMIM:124000
HP:0000508	Ptosis	6389	SDHA	ORPHA:255241
HP:0000508	Ptosis	6389	SDHA	OMIM:252011
HP:0000508	Ptosis	55967	NDUFA12	ORPHA:255241
HP:0000508	Ptosis	51204	TACO1	ORPHA:255241
HP:0000508	Ptosis	137682	NDUFAF6	ORPHA:255241
HP:0000508	Ptosis	100131801	PET100	ORPHA:255241
HP:0000508	Ptosis	1355	COX15	ORPHA:255241
HP:0000508	Ptosis	1892	ECHS1	ORPHA:255241
HP:0000508	Ptosis	123263	MTFMT	ORPHA:255241
HP:0000508	Ptosis	51079	NDUFA13	ORPHA:255241
HP:0000508	Ptosis	4705	NDUFA10	ORPHA:255241
HP:0000508	Ptosis	51601	LIPT1	ORPHA:255241
HP:0000508	Ptosis	4695	NDUFA2	ORPHA:255241
HP:0000508	Ptosis	4697	NDUFA4	ORPHA:255241
HP:0000508	Ptosis	4704	NDUFA9	ORPHA:255241
HP:0000508	Ptosis	4094	MAF	OMIM:601088
HP:0000508	Ptosis	5296	PIK3R2	OMIM:603387
HP:0000508	Ptosis	1537	CYC1	OMIM:615453
HP:0000508	Ptosis	26503	SLC17A5	OMIM:269920
HP:0000508	Ptosis	51099	ABHD5	ORPHA:98907
HP:0000508	Ptosis	84700	MYO18B	OMIM:616549
HP:0000508	Ptosis	9757	KMT2B	OMIM:619934
HP:0000508	Ptosis	9939	RBM8A	OMIM:274000
HP:0000508	Ptosis	23102	TBC1D2B	ORPHA:397973
HP:0000508	Ptosis	57647	DHX37	OMIM:618731
HP:0000508	Ptosis	7043	TGFB3	OMIM:615582
HP:0000508	Ptosis	10736	SIX2	ORPHA:488437
HP:0000508	Ptosis	4281	MID1	ORPHA:2745
HP:0000508	Ptosis	9181	ARHGEF2	OMIM:617523
HP:0000508	Ptosis	4654	MYOD1	OMIM:618975
HP:0000508	Ptosis	58499	ZNF462	OMIM:618619
HP:0000508	Ptosis	246329	STAC3	OMIM:255995
HP:0000508	Ptosis	9990	SLC12A6	OMIM:218000
HP:0000508	Ptosis	401	PHOX2A	OMIM:602078
HP:0000508	Ptosis	91452	ACBD5	OMIM:618863
HP:0000508	Ptosis	1182	CLCN3	OMIM:619512
HP:0000508	Ptosis	55628	ZNF407	OMIM:619557
HP:0000508	Ptosis	118987	PDZD8	OMIM:620021
HP:0000508	Ptosis	526	ATP6V1B2	ORPHA:79500
HP:0000508	Ptosis	4714	NDUFB8	ORPHA:70474
HP:0000508	Ptosis	2934	GSN	ORPHA:85448
HP:0000508	Ptosis	3767	KCNJ11	ORPHA:79134
HP:0000508	Ptosis	3767	KCNJ11	ORPHA:99885
HP:0000508	Ptosis	3767	KCNJ11	OMIM:618856
HP:0000508	Ptosis	6833	ABCC8	ORPHA:79134
HP:0000508	Ptosis	6833	ABCC8	ORPHA:99885
HP:0000508	Ptosis	5053	PAH	ORPHA:2209
HP:0000508	Ptosis	6774	STAT3	ORPHA:99885
HP:0000508	Ptosis	2645	GCK	ORPHA:99885
HP:0000508	Ptosis	3651	PDX1	ORPHA:99885
HP:0000508	Ptosis	3630	INS	ORPHA:99885
HP:0000508	Ptosis	3756	KCNH1	ORPHA:420561
HP:0000508	Ptosis	7298	TYMS	OMIM:620040
HP:0000508	Ptosis	347733	TUBB2B	ORPHA:467166
HP:0000508	Ptosis	7846	TUBA1A	ORPHA:467166
HP:0000508	Ptosis	55605	KIF21A	OMIM:135700
HP:0000508	Ptosis	23479	ISCU	OMIM:255125
HP:0000508	Ptosis	1280	COL2A1	ORPHA:485
HP:0000508	Ptosis	10087	CERT1	OMIM:616351
HP:0000508	Ptosis	5442	POLRMT	OMIM:619743
HP:0000508	Ptosis	4858	NOVA2	OMIM:618859
HP:0000508	Ptosis	55753	OGDHL	OMIM:619701
HP:0000508	Ptosis	3425	IDUA	OMIM:607014
HP:0000508	Ptosis	23095	KIF1B	OMIM:256700
HP:0000508	Ptosis	2783	GNB2	OMIM:619503
HP:0000508	Ptosis	84570	COL25A1	ORPHA:91411
HP:0000508	Ptosis	79776	ZFHX4	ORPHA:91411
HP:0000508	Ptosis	55027	HEATR3	OMIM:620072
HP:0000508	Ptosis	22827	PUF60	ORPHA:508498
HP:0000508	Ptosis	116931	MED12L	OMIM:618872
HP:0000508	Ptosis	51434	ANAPC7	OMIM:619699
HP:0000508	Ptosis	83479	DDX59	OMIM:174300
HP:0000508	Ptosis	57539	WDR35	OMIM:613610
HP:0000508	Ptosis	3211	HOXB1	OMIM:614744
HP:0000508	Ptosis	11043	MID2	OMIM:300928
HP:0000508	Ptosis	6650	CAPN15	OMIM:619318
HP:0000508	Ptosis	8106	PABPN1	OMIM:164300
HP:0000508	Ptosis	10755	GIPC1	ORPHA:98897
HP:0000508	Ptosis	100996717	NOTCH2NLC	ORPHA:98897
HP:0000508	Ptosis	79184	BRCC3	ORPHA:280679
HP:0000509	Conjunctivitis	10804	GJB6	ORPHA:477
HP:0000509	Conjunctivitis	10804	GJB6	OMIM:129500
HP:0000509	Conjunctivitis	2706	GJB2	ORPHA:477
HP:0000509	Conjunctivitis	695	BTK	OMIM:300755
HP:0000509	Conjunctivitis	695	BTK	ORPHA:47
HP:0000509	Conjunctivitis	695	BTK	OMIM:307200
HP:0000509	Conjunctivitis	930	CD19	OMIM:613493
HP:0000509	Conjunctivitis	930	CD19	OMIM:240500
HP:0000509	Conjunctivitis	114548	NLRP3	OMIM:617772
HP:0000509	Conjunctivitis	114548	NLRP3	OMIM:191900
HP:0000509	Conjunctivitis	114548	NLRP3	ORPHA:575
HP:0000509	Conjunctivitis	114548	NLRP3	ORPHA:47045
HP:0000509	Conjunctivitis	114548	NLRP3	OMIM:120100
HP:0000509	Conjunctivitis	1643	DDB2	OMIM:278740
HP:0000509	Conjunctivitis	987	LRBA	OMIM:614700
HP:0000509	Conjunctivitis	7454	WAS	ORPHA:906
HP:0000509	Conjunctivitis	7456	WIPF1	ORPHA:906
HP:0000509	Conjunctivitis	1736	DKC1	OMIM:305000
HP:0000509	Conjunctivitis	1776	DNASE1L3	ORPHA:36412
HP:0000509	Conjunctivitis	2778	GNAS	ORPHA:94089
HP:0000509	Conjunctivitis	2778	GNAS	ORPHA:79443
HP:0000509	Conjunctivitis	2778	GNAS	ORPHA:79444
HP:0000509	Conjunctivitis	8675	STX16	ORPHA:94089
HP:0000509	Conjunctivitis	7507	XPA	OMIM:278700
HP:0000509	Conjunctivitis	1161	ERCC8	ORPHA:90321
HP:0000509	Conjunctivitis	1161	ERCC8	ORPHA:90322
HP:0000509	Conjunctivitis	2072	ERCC4	ORPHA:90321
HP:0000509	Conjunctivitis	2074	ERCC6	ORPHA:90321
HP:0000509	Conjunctivitis	2074	ERCC6	ORPHA:90322
HP:0000509	Conjunctivitis	2074	ERCC6	OMIM:278800
HP:0000509	Conjunctivitis	79650	USB1	OMIM:604173
HP:0000509	Conjunctivitis	2067	ERCC1	ORPHA:90322
HP:0000509	Conjunctivitis	3507	IGHM	OMIM:601495
HP:0000509	Conjunctivitis	3507	IGHM	ORPHA:33110
HP:0000509	Conjunctivitis	55630	SLC39A4	ORPHA:37
HP:0000509	Conjunctivitis	8676	STX11	OMIM:603552
HP:0000509	Conjunctivitis	51360	MBTPS2	OMIM:308800
HP:0000509	Conjunctivitis	51360	MBTPS2	ORPHA:2273
HP:0000509	Conjunctivitis	5896	RAG1	OMIM:601457
HP:0000509	Conjunctivitis	5897	RAG2	OMIM:601457
HP:0000509	Conjunctivitis	3106	HLA-B	ORPHA:29207
HP:0000509	Conjunctivitis	3106	HLA-B	ORPHA:36426
HP:0000509	Conjunctivitis	1294	COL7A1	OMIM:226600
HP:0000509	Conjunctivitis	4312	MMP1	OMIM:226600
HP:0000509	Conjunctivitis	162	AP1B1	OMIM:242150
HP:0000509	Conjunctivitis	5075	PAX1	OMIM:615560
HP:0000509	Conjunctivitis	974	CD79B	OMIM:612692
HP:0000509	Conjunctivitis	974	CD79B	ORPHA:33110
HP:0000509	Conjunctivitis	5429	POLH	OMIM:278750
HP:0000509	Conjunctivitis	5340	PLG	OMIM:217090
HP:0000509	Conjunctivitis	7132	TNFRSF1A	ORPHA:32960
HP:0000509	Conjunctivitis	7132	TNFRSF1A	OMIM:142680
HP:0000509	Conjunctivitis	7086	TKT	ORPHA:488618
HP:0000509	Conjunctivitis	29851	ICOS	OMIM:607594
HP:0000509	Conjunctivitis	29851	ICOS	OMIM:240500
HP:0000509	Conjunctivitis	65082	VPS33A	ORPHA:505248
HP:0000509	Conjunctivitis	10320	IKZF1	ORPHA:36426
HP:0000509	Conjunctivitis	23495	TNFRSF13B	OMIM:240500
HP:0000509	Conjunctivitis	115650	TNFRSF13C	OMIM:240500
HP:0000509	Conjunctivitis	1380	CR2	OMIM:240500
HP:0000509	Conjunctivitis	55612	FERMT1	ORPHA:2908
HP:0000509	Conjunctivitis	5692	PSMB4	OMIM:617591
HP:0000509	Conjunctivitis	5698	PSMB9	OMIM:617591
HP:0000509	Conjunctivitis	7037	TFRC	OMIM:616740
HP:0000509	Conjunctivitis	7994	KAT6A	OMIM:616268
HP:0000509	Conjunctivitis	686	BTD	OMIM:253260
HP:0000509	Conjunctivitis	686	BTD	ORPHA:79241
HP:0000509	Conjunctivitis	2077	ERF	ORPHA:207
HP:0000509	Conjunctivitis	404672	GTF2H5	ORPHA:33364
HP:0000509	Conjunctivitis	833	CARS1	ORPHA:33364
HP:0000509	Conjunctivitis	2068	ERCC2	ORPHA:33364
HP:0000509	Conjunctivitis	2068	ERCC2	OMIM:278730
HP:0000509	Conjunctivitis	7737	RNF113A	ORPHA:33364
HP:0000509	Conjunctivitis	136647	MPLKIP	ORPHA:33364
HP:0000509	Conjunctivitis	6897	TARS1	ORPHA:33364
HP:0000509	Conjunctivitis	2071	ERCC3	ORPHA:33364
HP:0000509	Conjunctivitis	2961	GTF2E2	ORPHA:33364
HP:0000509	Conjunctivitis	2303	FOXC2	ORPHA:33001
HP:0000509	Conjunctivitis	2303	FOXC2	OMIM:153400
HP:0000509	Conjunctivitis	7508	XPC	OMIM:278720
HP:0000509	Conjunctivitis	54809	SAMD9	OMIM:610455
HP:0000509	Conjunctivitis	5696	PSMB8	OMIM:256040
HP:0000509	Conjunctivitis	3321	IGSF3	OMIM:149700
HP:0000509	Conjunctivitis	6929	TCF3	ORPHA:33110
HP:0000509	Conjunctivitis	973	CD79A	ORPHA:33110
HP:0000509	Conjunctivitis	3543	IGLL1	ORPHA:33110
HP:0000509	Conjunctivitis	29760	BLNK	ORPHA:33110
HP:0000509	Conjunctivitis	5295	PIK3R1	ORPHA:33110
HP:0000509	Conjunctivitis	56262	LRRC8A	ORPHA:33110
HP:0000509	Conjunctivitis	6720	SREBF1	OMIM:158310
HP:0000509	Conjunctivitis	2263	FGFR2	ORPHA:2363
HP:0000509	Conjunctivitis	2261	FGFR3	ORPHA:2363
HP:0000509	Conjunctivitis	2255	FGF10	ORPHA:2363
HP:0000509	Conjunctivitis	3141	HLCS	ORPHA:79242
HP:0000509	Conjunctivitis	7390	UROS	ORPHA:79277
HP:0000509	Conjunctivitis	2623	GATA1	ORPHA:79277
HP:0000509	Conjunctivitis	326	AIRE	OMIM:240300
HP:0000509	Conjunctivitis	7389	UROD	ORPHA:95159
HP:0000509	Conjunctivitis	6335	SCN9A	OMIM:133020
HP:0000509	Conjunctivitis	54941	RNF125	OMIM:616260
HP:0000509	Conjunctivitis	55699	IARS2	OMIM:616007
HP:0000509	Conjunctivitis	1308	COL17A1	ORPHA:293381
HP:0000509	Conjunctivitis	4547	MTTP	ORPHA:14
HP:0000509	Conjunctivitis	2934	GSN	ORPHA:85448
HP:0000509	Conjunctivitis	22861	NLRP1	OMIM:617388
HP:0000509	Conjunctivitis	64127	NOD2	OMIM:617321
HP:0000509	Conjunctivitis	4081	MAB21L1	OMIM:618479
HP:0000509	Conjunctivitis	3930	LBR	ORPHA:779
HP:0000509	Conjunctivitis	2200	FBN1	OMIM:616914
HP:0000509	Conjunctivitis	165	AEBP1	ORPHA:536532
HP:0000509	Conjunctivitis	56244	BTNL2	ORPHA:797
HP:0000509	Conjunctivitis	3123	HLA-DRB1	ORPHA:797
HP:0000509	Conjunctivitis	149233	IL23R	ORPHA:117
HP:0000509	Conjunctivitis	6775	STAT4	ORPHA:117
HP:0000509	Conjunctivitis	3586	IL10	ORPHA:117
HP:0000509	Conjunctivitis	4210	MEFV	ORPHA:117
HP:0000509	Conjunctivitis	1230	CCR1	ORPHA:117
HP:0000509	Conjunctivitis	355	FAS	ORPHA:117
HP:0000509	Conjunctivitis	3592	IL12A	ORPHA:117
HP:0000509	Conjunctivitis	101928376	IL12A-AS1	ORPHA:117
HP:0000509	Conjunctivitis	7099	TLR4	ORPHA:117
HP:0000509	Conjunctivitis	3459	IFNGR1	ORPHA:117
HP:0000509	Conjunctivitis	720	C4A	ORPHA:117
HP:0000509	Conjunctivitis	337867	UBAC2	ORPHA:117
HP:0000509	Conjunctivitis	51752	ERAP1	ORPHA:117
HP:0000509	Conjunctivitis	8302	KLRC4	ORPHA:117
HP:0000509	Conjunctivitis	8626	TP63	ORPHA:69085
HP:0200138	Bilateral choanal atresia/stenosis	79633	FAT4	ORPHA:314679
HP:0200138	Bilateral choanal atresia/stenosis	8642	DCHS1	ORPHA:314679
HP:0200138	Bilateral choanal atresia/stenosis	10907	TXNL4A	OMIM:608572
HP:0010720	Abnormal hair pattern	11113	CIT	OMIM:617090
HP:0010720	Abnormal hair pattern	10128	LRPPRC	OMIM:220111
HP:0010720	Abnormal hair pattern	91949	COG7	OMIM:608779
HP:0010720	Abnormal hair pattern	25970	SH2B1	ORPHA:261222
HP:0010720	Abnormal hair pattern	9131	AIFM1	OMIM:300232
HP:0010720	Abnormal hair pattern	6909	TBX2	OMIM:618223
HP:0010720	Abnormal hair pattern	23013	SPEN	OMIM:619312
HP:0010720	Abnormal hair pattern	8367	H4C5	OMIM:619950
HP:0010720	Abnormal hair pattern	6885	MAP3K7	OMIM:617137
HP:0010720	Abnormal hair pattern	55627	SMPD4	OMIM:618622
HP:0010720	Abnormal hair pattern	8818	DPM2	ORPHA:329178
HP:0010720	Abnormal hair pattern	7545	ZIC1	OMIM:616602
HP:0010720	Abnormal hair pattern	7545	ZIC1	OMIM:618736
HP:0010720	Abnormal hair pattern	7518	XRCC4	ORPHA:99812
HP:0010720	Abnormal hair pattern	3981	LIG4	ORPHA:99812
HP:0010720	Abnormal hair pattern	3981	LIG4	OMIM:606593
HP:0010720	Abnormal hair pattern	3981	LIG4	ORPHA:235
HP:0010720	Abnormal hair pattern	55209	SETD5	ORPHA:404440
HP:0010720	Abnormal hair pattern	55209	SETD5	OMIM:615761
HP:0010720	Abnormal hair pattern	57465	TBC1D24	OMIM:220500
HP:0010720	Abnormal hair pattern	57465	TBC1D24	ORPHA:79500
HP:0010720	Abnormal hair pattern	9578	CDC42BPB	OMIM:619841
HP:0010720	Abnormal hair pattern	29998	BICRA	OMIM:619325
HP:0010720	Abnormal hair pattern	55690	PACS1	OMIM:615009
HP:0010720	Abnormal hair pattern	55690	PACS1	ORPHA:329224
HP:0010720	Abnormal hair pattern	4081	MAB21L1	OMIM:618479
HP:0010720	Abnormal hair pattern	318	NUDT2	OMIM:619844
HP:0010720	Abnormal hair pattern	10982	MAPRE2	OMIM:616734
HP:0010720	Abnormal hair pattern	55780	ERMARD	ORPHA:75857
HP:0010720	Abnormal hair pattern	5934	RBL2	OMIM:619690
HP:0010720	Abnormal hair pattern	83999	KREMEN1	OMIM:617392
HP:0010720	Abnormal hair pattern	10735	STAG2	OMIM:301022
HP:0010720	Abnormal hair pattern	23221	RHOBTB2	OMIM:618004
HP:0010720	Abnormal hair pattern	55870	ASH1L	OMIM:617796
HP:0010720	Abnormal hair pattern	4125	MAN2B1	OMIM:248500
HP:0010720	Abnormal hair pattern	1020	CDK5	OMIM:616342
HP:0010720	Abnormal hair pattern	3756	KCNH1	OMIM:135500
HP:0010720	Abnormal hair pattern	3756	KCNH1	ORPHA:420561
HP:0010720	Abnormal hair pattern	79029	AFG2B	OMIM:619616
HP:0010720	Abnormal hair pattern	6597	SMARCA4	ORPHA:1465
HP:0010720	Abnormal hair pattern	6598	SMARCB1	ORPHA:1465
HP:0010720	Abnormal hair pattern	6659	SOX4	ORPHA:1465
HP:0010720	Abnormal hair pattern	8289	ARID1A	ORPHA:1465
HP:0010720	Abnormal hair pattern	8289	ARID1A	OMIM:614607
HP:0010720	Abnormal hair pattern	5977	DPF2	ORPHA:1465
HP:0010720	Abnormal hair pattern	6601	SMARCC2	ORPHA:1465
HP:0010720	Abnormal hair pattern	57492	ARID1B	ORPHA:1465
HP:0010720	Abnormal hair pattern	196528	ARID2	ORPHA:1465
HP:0010720	Abnormal hair pattern	6605	SMARCE1	ORPHA:1465
HP:0010720	Abnormal hair pattern	6605	SMARCE1	OMIM:616938
HP:0010720	Abnormal hair pattern	6664	SOX11	ORPHA:1465
HP:0010720	Abnormal hair pattern	23065	EMC1	OMIM:616875
HP:0010720	Abnormal hair pattern	23065	EMC1	ORPHA:480898
HP:0010720	Abnormal hair pattern	128637	TBC1D20	OMIM:615663
HP:0010720	Abnormal hair pattern	1954	MEGF8	OMIM:614976
HP:0010720	Abnormal hair pattern	3782	KCNN3	OMIM:618658
HP:0010720	Abnormal hair pattern	4853	NOTCH2	ORPHA:955
HP:0010720	Abnormal hair pattern	57572	DOCK6	OMIM:614219
HP:0010720	Abnormal hair pattern	59336	PRDM13	OMIM:619909
HP:0010720	Abnormal hair pattern	54888	NSUN2	ORPHA:235
HP:0010720	Abnormal hair pattern	9895	TECPR2	OMIM:615031
HP:0010720	Abnormal hair pattern	9895	TECPR2	ORPHA:320385
HP:0010720	Abnormal hair pattern	157680	VPS13B	ORPHA:193
HP:0010720	Abnormal hair pattern	1182	CLCN3	OMIM:619512
HP:0010720	Abnormal hair pattern	6938	TCF12	OMIM:615314
HP:0010720	Abnormal hair pattern	22931	RAB18	OMIM:614222
HP:0010720	Abnormal hair pattern	85440	DOCK7	ORPHA:411986
HP:0010720	Abnormal hair pattern	85440	DOCK7	OMIM:615859
HP:0010720	Abnormal hair pattern	80036	TRPM3	OMIM:620224
HP:0010720	Abnormal hair pattern	8405	SPOP	OMIM:618828
HP:0010720	Abnormal hair pattern	526	ATP6V1B2	ORPHA:79500
HP:0010720	Abnormal hair pattern	84172	POLR1B	ORPHA:861
HP:0010720	Abnormal hair pattern	9533	POLR1C	ORPHA:861
HP:0010720	Abnormal hair pattern	51082	POLR1D	ORPHA:861
HP:0010720	Abnormal hair pattern	6949	TCOF1	ORPHA:861
HP:0010720	Abnormal hair pattern	253959	RALGAPA1	OMIM:618797
HP:0010720	Abnormal hair pattern	91875	TTC5	OMIM:619244
HP:0010720	Abnormal hair pattern	440138	ALG11	OMIM:613661
HP:0010720	Abnormal hair pattern	93587	TRMT10A	ORPHA:391408
HP:0010720	Abnormal hair pattern	93587	TRMT10A	OMIM:616033
HP:0010720	Abnormal hair pattern	84919	PPP1R15B	ORPHA:391408
HP:0010720	Abnormal hair pattern	55343	SLC35C1	ORPHA:99843
HP:0010720	Abnormal hair pattern	55691	FRMD4A	OMIM:616819
HP:0010720	Abnormal hair pattern	55691	FRMD4A	ORPHA:466688
HP:0010720	Abnormal hair pattern	79147	FKRP	OMIM:613153
HP:0010720	Abnormal hair pattern	374969	SVBP	OMIM:618569
HP:0010720	Abnormal hair pattern	3643	INSR	ORPHA:769
HP:0010720	Abnormal hair pattern	4683	NBN	ORPHA:647
HP:0010720	Abnormal hair pattern	3339	HSPG2	ORPHA:800
HP:0010720	Abnormal hair pattern	6135	RPL11	ORPHA:124
HP:0010720	Abnormal hair pattern	6138	RPL15	ORPHA:124
HP:0010720	Abnormal hair pattern	6229	RPS24	ORPHA:124
HP:0010720	Abnormal hair pattern	6125	RPL5	ORPHA:124
HP:0010720	Abnormal hair pattern	6204	RPS10	ORPHA:124
HP:0010720	Abnormal hair pattern	6224	RPS20	ORPHA:124
HP:0010720	Abnormal hair pattern	6165	RPL35A	ORPHA:124
HP:0010720	Abnormal hair pattern	2623	GATA1	ORPHA:124
HP:0010720	Abnormal hair pattern	6223	RPS19	ORPHA:124
HP:0010720	Abnormal hair pattern	6232	RPS27	ORPHA:124
HP:0010720	Abnormal hair pattern	6231	RPS26	ORPHA:124
HP:0010720	Abnormal hair pattern	11224	RPL35	ORPHA:124
HP:0010720	Abnormal hair pattern	6160	RPL31	ORPHA:124
HP:0010720	Abnormal hair pattern	6218	RPS17	ORPHA:124
HP:0010720	Abnormal hair pattern	6201	RPS7	ORPHA:124
HP:0010720	Abnormal hair pattern	6155	RPL27	ORPHA:124
HP:0010720	Abnormal hair pattern	6154	RPL26	ORPHA:124
HP:0010720	Abnormal hair pattern	6210	RPS15A	ORPHA:124
HP:0010720	Abnormal hair pattern	90121	TSR2	ORPHA:124
HP:0010720	Abnormal hair pattern	6141	RPL18	ORPHA:124
HP:0010720	Abnormal hair pattern	6235	RPS29	ORPHA:124
HP:0010720	Abnormal hair pattern	51816	ADA2	ORPHA:124
HP:0010720	Abnormal hair pattern	171023	ASXL1	OMIM:605039
HP:0010720	Abnormal hair pattern	672	BRCA1	OMIM:617883
HP:0010720	Abnormal hair pattern	6878	TAF6	OMIM:617126
HP:0010720	Abnormal hair pattern	9990	SLC12A6	OMIM:218000
HP:0010720	Abnormal hair pattern	8092	ALX1	ORPHA:306542
HP:0010720	Abnormal hair pattern	55027	HEATR3	OMIM:620072
HP:0010720	Abnormal hair pattern	257	ALX3	OMIM:136760
HP:0010720	Abnormal hair pattern	257	ALX3	ORPHA:391474
HP:0010720	Abnormal hair pattern	4281	MID1	OMIM:300000
HP:0010720	Abnormal hair pattern	4281	MID1	ORPHA:2745
HP:0010720	Abnormal hair pattern	6857	SYT1	ORPHA:522077
HP:0010720	Abnormal hair pattern	10220	GDF11	OMIM:619122
HP:0010720	Abnormal hair pattern	473	RERE	OMIM:616975
HP:0010720	Abnormal hair pattern	23384	SPECC1L	OMIM:145420
HP:0010720	Abnormal hair pattern	23384	SPECC1L	ORPHA:1519
HP:0010720	Abnormal hair pattern	22907	DHX30	OMIM:617804
HP:0010720	Abnormal hair pattern	6304	SATB1	OMIM:619229
HP:0010720	Abnormal hair pattern	4036	LRP2	ORPHA:2143
HP:0010720	Abnormal hair pattern	10522	DEAF1	OMIM:615828
HP:0010720	Abnormal hair pattern	10466	COG5	ORPHA:263487
HP:0010720	Abnormal hair pattern	64132	XYLT2	OMIM:605822
HP:0010720	Abnormal hair pattern	64132	XYLT2	ORPHA:85194
HP:0010720	Abnormal hair pattern	3479	IGF1	ORPHA:73272
HP:0010720	Abnormal hair pattern	324	APC	ORPHA:261584
HP:0010720	Abnormal hair pattern	1947	EFNB1	ORPHA:1520
HP:0010720	Abnormal hair pattern	1947	EFNB1	OMIM:304110
HP:0010720	Abnormal hair pattern	161742	SPRED1	OMIM:611431
HP:0010720	Abnormal hair pattern	673	BRAF	OMIM:115150
HP:0010720	Abnormal hair pattern	673	BRAF	ORPHA:1340
HP:0010720	Abnormal hair pattern	673	BRAF	OMIM:613707
HP:0010720	Abnormal hair pattern	673	BRAF	OMIM:613706
HP:0010720	Abnormal hair pattern	673	BRAF	OMIM:163950
HP:0010720	Abnormal hair pattern	79650	USB1	OMIM:604173
HP:0010720	Abnormal hair pattern	10847	SRCAP	OMIM:136140
HP:0010720	Abnormal hair pattern	3020	H3-3A	OMIM:619720
HP:0010720	Abnormal hair pattern	23030	KDM4B	OMIM:619320
HP:0010720	Abnormal hair pattern	5184	PEPD	OMIM:170100
HP:0010720	Abnormal hair pattern	4893	NRAS	OMIM:613224
HP:0010720	Abnormal hair pattern	4893	NRAS	ORPHA:648
HP:0010720	Abnormal hair pattern	65082	VPS33A	OMIM:617303
HP:0010720	Abnormal hair pattern	80055	PGAP1	OMIM:615802
HP:0010720	Abnormal hair pattern	25782	RAB3GAP2	OMIM:212720
HP:0010720	Abnormal hair pattern	25782	RAB3GAP2	ORPHA:1387
HP:0010720	Abnormal hair pattern	3764	KCNJ8	ORPHA:1517
HP:0010720	Abnormal hair pattern	10060	ABCC9	ORPHA:1517
HP:0010720	Abnormal hair pattern	4297	KMT2A	OMIM:605130
HP:0010720	Abnormal hair pattern	4763	NF1	OMIM:601321
HP:0010720	Abnormal hair pattern	55777	MBD5	OMIM:156200
HP:0010720	Abnormal hair pattern	165	AEBP1	OMIM:618000
HP:0010720	Abnormal hair pattern	10265	IRX5	OMIM:611174
HP:0010720	Abnormal hair pattern	5604	MAP2K1	ORPHA:1340
HP:0010720	Abnormal hair pattern	5604	MAP2K1	OMIM:163950
HP:0010720	Abnormal hair pattern	5605	MAP2K2	ORPHA:1340
HP:0010720	Abnormal hair pattern	3845	KRAS	ORPHA:1340
HP:0010720	Abnormal hair pattern	3845	KRAS	ORPHA:648
HP:0010720	Abnormal hair pattern	1000	CDH2	OMIM:618929
HP:0010720	Abnormal hair pattern	7020	TFAP2A	OMIM:113620
HP:0010720	Abnormal hair pattern	7319	UBE2A	OMIM:300860
HP:0010720	Abnormal hair pattern	7319	UBE2A	ORPHA:163956
HP:0010720	Abnormal hair pattern	10815	CPLX1	ORPHA:280
HP:0010720	Abnormal hair pattern	10815	CPLX1	OMIM:194190
HP:0010720	Abnormal hair pattern	54872	PIGG	ORPHA:280
HP:0010720	Abnormal hair pattern	7469	NELFA	ORPHA:280
HP:0010720	Abnormal hair pattern	1487	CTBP1	ORPHA:280
HP:0010720	Abnormal hair pattern	1487	CTBP1	OMIM:194190
HP:0010720	Abnormal hair pattern	3954	LETM1	ORPHA:280
HP:0010720	Abnormal hair pattern	3954	LETM1	OMIM:194190
HP:0010720	Abnormal hair pattern	7468	NSD2	ORPHA:280
HP:0010720	Abnormal hair pattern	7468	NSD2	OMIM:194190
HP:0010720	Abnormal hair pattern	8036	SHOC2	ORPHA:2701
HP:0010720	Abnormal hair pattern	5500	PPP1CB	ORPHA:2701
HP:0010720	Abnormal hair pattern	5500	PPP1CB	OMIM:617506
HP:0010720	Abnormal hair pattern	4854	NOTCH3	ORPHA:2789
HP:0010720	Abnormal hair pattern	51729	WBP11	OMIM:619227
HP:0010720	Abnormal hair pattern	200734	SPRED2	OMIM:619745
HP:0010720	Abnormal hair pattern	200734	SPRED2	ORPHA:648
HP:0010720	Abnormal hair pattern	6602	SMARCD1	OMIM:618779
HP:0010720	Abnormal hair pattern	53834	FGFRL1	OMIM:194190
HP:0010720	Abnormal hair pattern	6234	RPS28	OMIM:606164
HP:0010720	Abnormal hair pattern	60	ACTB	OMIM:243310
HP:0010720	Abnormal hair pattern	60	ACTB	ORPHA:2995
HP:0010720	Abnormal hair pattern	57167	SALL4	ORPHA:233
HP:0010720	Abnormal hair pattern	9935	MAFB	ORPHA:233
HP:0010720	Abnormal hair pattern	1123	CHN1	ORPHA:233
HP:0010720	Abnormal hair pattern	23476	BRD4	ORPHA:199
HP:0010720	Abnormal hair pattern	9126	SMC3	ORPHA:199
HP:0010720	Abnormal hair pattern	8243	SMC1A	ORPHA:199
HP:0010720	Abnormal hair pattern	25836	NIPBL	ORPHA:199
HP:0010720	Abnormal hair pattern	25836	NIPBL	OMIM:122470
HP:0010720	Abnormal hair pattern	55869	HDAC8	ORPHA:199
HP:0010720	Abnormal hair pattern	5885	RAD21	ORPHA:199
HP:0010720	Abnormal hair pattern	392255	GDF6	OMIM:118100
HP:0010720	Abnormal hair pattern	392255	GDF6	ORPHA:2345
HP:0010720	Abnormal hair pattern	1387	CREBBP	OMIM:180849
HP:0010720	Abnormal hair pattern	2033	EP300	OMIM:180849
HP:0010720	Abnormal hair pattern	29957	SLC25A24	OMIM:612289
HP:0010720	Abnormal hair pattern	79005	SCNM1	OMIM:620107
HP:0010720	Abnormal hair pattern	4784	NFIX	ORPHA:420179
HP:0010720	Abnormal hair pattern	54499	TMCO1	OMIM:213980
HP:0010720	Abnormal hair pattern	54499	TMCO1	ORPHA:1394
HP:0010720	Abnormal hair pattern	5293	PIK3CD	ORPHA:221139
HP:0010720	Abnormal hair pattern	90417	KNSTRN	ORPHA:221139
HP:0010720	Abnormal hair pattern	79796	ALG9	ORPHA:79328
HP:0010720	Abnormal hair pattern	8567	MADD	OMIM:619004
HP:0010720	Abnormal hair pattern	374879	ZNF699	OMIM:619488
HP:0010720	Abnormal hair pattern	5594	MAPK1	OMIM:619087
HP:0010720	Abnormal hair pattern	28952	CCDC22	OMIM:300963
HP:0010720	Abnormal hair pattern	4849	CNOT3	OMIM:618672
HP:0010720	Abnormal hair pattern	226	ALDOA	OMIM:611881
HP:0010720	Abnormal hair pattern	4222	MEOX1	OMIM:214300
HP:0010720	Abnormal hair pattern	4222	MEOX1	ORPHA:2345
HP:0010720	Abnormal hair pattern	80267	EDEM3	OMIM:619493
HP:0010720	Abnormal hair pattern	9897	WASHC5	OMIM:220210
HP:0010720	Abnormal hair pattern	10020	GNE	OMIM:269921
HP:0010720	Abnormal hair pattern	5286	PIK3C2A	OMIM:618440
HP:0010720	Abnormal hair pattern	738	VPS51	OMIM:618606
HP:0010720	Abnormal hair pattern	22930	RAB3GAP1	ORPHA:1387
HP:0010720	Abnormal hair pattern	23133	PHF8	ORPHA:85287
HP:0010720	Abnormal hair pattern	23133	PHF8	OMIM:300263
HP:0010720	Abnormal hair pattern	54187	NANS	OMIM:610442
HP:0010720	Abnormal hair pattern	84700	MYO18B	OMIM:616549
HP:0010720	Abnormal hair pattern	22800	RRAS2	ORPHA:648
HP:0010720	Abnormal hair pattern	867	CBL	ORPHA:648
HP:0010720	Abnormal hair pattern	867	CBL	OMIM:613563
HP:0010720	Abnormal hair pattern	8216	LZTR1	ORPHA:648
HP:0010720	Abnormal hair pattern	8216	LZTR1	OMIM:605275
HP:0010720	Abnormal hair pattern	6016	RIT1	ORPHA:648
HP:0010720	Abnormal hair pattern	6237	RRAS	ORPHA:648
HP:0010720	Abnormal hair pattern	5894	RAF1	ORPHA:648
HP:0010720	Abnormal hair pattern	22808	MRAS	ORPHA:648
HP:0010720	Abnormal hair pattern	6654	SOS1	ORPHA:648
HP:0010720	Abnormal hair pattern	6655	SOS2	ORPHA:648
HP:0010720	Abnormal hair pattern	5781	PTPN11	ORPHA:648
HP:0010720	Abnormal hair pattern	5781	PTPN11	OMIM:163950
HP:0010720	Abnormal hair pattern	5922	RASA2	ORPHA:648
HP:0010720	Abnormal hair pattern	4621	MYH3	ORPHA:2990
HP:0010720	Abnormal hair pattern	1146	CHRNG	ORPHA:2990
HP:0010720	Abnormal hair pattern	5468	PPARG	ORPHA:528
HP:0010720	Abnormal hair pattern	10555	AGPAT2	ORPHA:528
HP:0010720	Abnormal hair pattern	284119	CAVIN1	ORPHA:528
HP:0010720	Abnormal hair pattern	26580	BSCL2	ORPHA:528
HP:0010720	Abnormal hair pattern	2353	FOS	ORPHA:528
HP:0010720	Abnormal hair pattern	857	CAV1	ORPHA:528
HP:0010720	Abnormal hair pattern	6913	TBX15	ORPHA:93333
HP:0010720	Abnormal hair pattern	79087	ALG12	ORPHA:79324
HP:0010720	Abnormal hair pattern	71	ACTG1	ORPHA:2995
HP:0010720	Abnormal hair pattern	9469	CHST3	OMIM:245600
HP:0010720	Abnormal hair pattern	26229	B3GAT3	OMIM:245600
HP:0010720	Abnormal hair pattern	6595	SMARCA2	OMIM:601358
HP:0010720	Abnormal hair pattern	29123	ANKRD11	OMIM:148050
HP:0010720	Abnormal hair pattern	8621	CDK13	OMIM:617360
HP:0010720	Abnormal hair pattern	9181	ARHGEF2	OMIM:617523
HP:0010720	Abnormal hair pattern	9573	GDF3	ORPHA:2345
HP:0010720	Abnormal hair pattern	6736	SRY	ORPHA:1772
HP:0010720	Abnormal hair pattern	27152	INTU	OMIM:617925
HP:0010720	Abnormal hair pattern	10075	HUWE1	OMIM:309590
HP:0010720	Abnormal hair pattern	8626	TP63	OMIM:106260
HP:0010720	Abnormal hair pattern	147409	DSG4	ORPHA:573
HP:0010720	Abnormal hair pattern	3892	KRT86	ORPHA:573
HP:0010720	Abnormal hair pattern	3889	KRT83	ORPHA:573
HP:0010720	Abnormal hair pattern	3887	KRT81	ORPHA:573
HP:0010720	Abnormal hair pattern	64840	PORCN	OMIM:305600
HP:0010720	Abnormal hair pattern	8242	KDM5C	OMIM:300534
HP:0010720	Abnormal hair pattern	8242	KDM5C	ORPHA:85279
HP:0010720	Abnormal hair pattern	3914	LAMB3	OMIM:226650
HP:0010720	Abnormal hair pattern	81607	NECTIN4	OMIM:613573
HP:0010720	Abnormal hair pattern	3265	HRAS	ORPHA:2874
HP:0010720	Abnormal hair pattern	55806	HR	ORPHA:701
HP:0010720	Abnormal hair pattern	641	BLM	ORPHA:125
HP:0010720	Abnormal hair pattern	284252	KCTD1	OMIM:181270
HP:0010720	Abnormal hair pattern	10269	ZMPSTE24	ORPHA:740
HP:0010720	Abnormal hair pattern	1893	ECM1	OMIM:247100
HP:0010720	Abnormal hair pattern	23404	EXOSC2	OMIM:617763
HP:0010720	Abnormal hair pattern	28755	TRAC	OMIM:615387
HP:0010720	Abnormal hair pattern	51702	PADI3	ORPHA:1410
HP:0010720	Abnormal hair pattern	7053	TGM3	ORPHA:1410
HP:0010720	Abnormal hair pattern	3559	IL2RA	OMIM:606367
HP:0010720	Abnormal hair pattern	84168	ANTXR1	ORPHA:2067
HP:0010720	Abnormal hair pattern	7528	YY1	ORPHA:506358
HP:0010720	Abnormal hair pattern	7528	YY1	OMIM:617557
HP:0010720	Abnormal hair pattern	5422	POLA1	OMIM:301220
HP:0010720	Abnormal hair pattern	9759	HDAC4	OMIM:619797
HP:0010720	Abnormal hair pattern	8473	OGT	OMIM:300997
HP:0010720	Abnormal hair pattern	815	CAMK2A	OMIM:617798
HP:0010720	Abnormal hair pattern	9968	MED12	ORPHA:93932
HP:0010720	Abnormal hair pattern	9968	MED12	OMIM:305450
HP:0010720	Abnormal hair pattern	23389	MED13L	ORPHA:369891
HP:0010720	Abnormal hair pattern	7681	MKRN3	OMIM:176270
HP:0010720	Abnormal hair pattern	3653	IPW	OMIM:176270
HP:0010720	Abnormal hair pattern	54551	MAGEL2	OMIM:176270
HP:0010720	Abnormal hair pattern	791114	PWRN1	OMIM:176270
HP:0010720	Abnormal hair pattern	100033413	SNORD116-1	OMIM:176270
HP:0010720	Abnormal hair pattern	8924	HERC2	OMIM:176270
HP:0010720	Abnormal hair pattern	145624	PWAR1	OMIM:176270
HP:0010720	Abnormal hair pattern	23742	NPAP1	OMIM:176270
HP:0010720	Abnormal hair pattern	338433	SNORD115-1	OMIM:176270
HP:0010720	Abnormal hair pattern	2316	FLNA	OMIM:300321
HP:0010720	Abnormal hair pattern	7204	TRIO	OMIM:617061
HP:0010720	Abnormal hair pattern	9742	IFT140	OMIM:266920
HP:0010720	Abnormal hair pattern	27086	FOXP1	ORPHA:391372
HP:0010720	Abnormal hair pattern	9758	FRMPD4	OMIM:300983
HP:0010720	Abnormal hair pattern	9442	MED27	OMIM:619286
HP:0010720	Abnormal hair pattern	55012	PPP2R3C	OMIM:618419
HP:0010720	Abnormal hair pattern	23261	CAMTA1	OMIM:614756
HP:0010720	Abnormal hair pattern	6925	TCF4	OMIM:610954
HP:0010720	Abnormal hair pattern	2702	GJA5	OMIM:612474
HP:0010720	Abnormal hair pattern	2703	GJA8	OMIM:612474
HP:0010720	Abnormal hair pattern	10084	PQBP1	ORPHA:93945
HP:0010720	Abnormal hair pattern	54361	WNT4	ORPHA:247768
HP:0010720	Abnormal hair pattern	7555	CNBP	OMIM:602668
HP:0010720	Abnormal hair pattern	7840	ALMS1	ORPHA:64
HP:0010720	Abnormal hair pattern	1760	DMPK	OMIM:160900
HP:0010720	Abnormal hair pattern	2908	NR3C1	ORPHA:786
HP:0010720	Abnormal hair pattern	215	ABCD1	ORPHA:139399
HP:0010720	Abnormal hair pattern	6513	SLC2A1	ORPHA:1942
HP:0010720	Abnormal hair pattern	8831	SYNGAP1	ORPHA:1942
HP:0010720	Abnormal hair pattern	1173	AP2M1	ORPHA:1942
HP:0010720	Abnormal hair pattern	6323	SCN1A	ORPHA:1942
HP:0010720	Abnormal hair pattern	340533	NEXMIF	ORPHA:1942
HP:0010720	Abnormal hair pattern	1106	CHD2	ORPHA:1942
HP:0010720	Abnormal hair pattern	6529	SLC6A1	ORPHA:1942
HP:0010720	Abnormal hair pattern	3891	KRT85	OMIM:602032
HP:0010720	Abnormal hair pattern	8517	IKBKG	OMIM:308300
HP:0010720	Abnormal hair pattern	1308	COL17A1	ORPHA:251393
HP:0010720	Abnormal hair pattern	3691	ITGB4	ORPHA:251393
HP:0010720	Abnormal hair pattern	10297	APC2	ORPHA:821
HP:0010720	Abnormal hair pattern	1371	CPOX	ORPHA:79273
HP:0010720	Abnormal hair pattern	5824	PEX19	OMIM:614886
HP:0010720	Abnormal hair pattern	7248	TSC1	OMIM:191100
HP:0010720	Abnormal hair pattern	9653	HS2ST1	OMIM:619194
HP:0010720	Abnormal hair pattern	1802	DPH2	OMIM:620062
HP:0010720	Abnormal hair pattern	23394	ADNP	ORPHA:404448
HP:0010720	Abnormal hair pattern	23394	ADNP	OMIM:615873
HP:0010720	Abnormal hair pattern	104	ADARB1	OMIM:618862
HP:0010720	Abnormal hair pattern	8812	CCNK	OMIM:618147
HP:0010720	Abnormal hair pattern	6608	SMO	OMIM:601707
HP:0010720	Abnormal hair pattern	29926	GMPPA	OMIM:615510
HP:0010720	Abnormal hair pattern	7360	UGP2	OMIM:618744
HP:0010720	Abnormal hair pattern	3008	H1-4	OMIM:617537
HP:0010720	Abnormal hair pattern	3703	STT3A	OMIM:619714
HP:0010720	Abnormal hair pattern	5189	PEX1	ORPHA:3220
HP:0010720	Abnormal hair pattern	5190	PEX6	ORPHA:3220
HP:0010720	Abnormal hair pattern	10283	CWC27	OMIM:250410
HP:0010720	Abnormal hair pattern	79718	TBL1XR1	OMIM:602342
HP:0010720	Abnormal hair pattern	79718	TBL1XR1	ORPHA:487825
HP:0010720	Abnormal hair pattern	79228	THOC6	ORPHA:363444
HP:0010720	Abnormal hair pattern	79228	THOC6	OMIM:613680
HP:0010720	Abnormal hair pattern	10026	PIGK	OMIM:618879
HP:0010720	Abnormal hair pattern	10525	HYOU1	OMIM:233600
HP:0010720	Abnormal hair pattern	999	CDH1	OMIM:119580
HP:0010720	Abnormal hair pattern	84679	SLC9A7	OMIM:301024
HP:0010720	Abnormal hair pattern	64135	IFIH1	OMIM:182250
HP:0010720	Abnormal hair pattern	64324	NSD1	OMIM:117550
HP:0010720	Abnormal hair pattern	55906	ZC4H2	OMIM:314580
HP:0010720	Abnormal hair pattern	1748	DLX4	OMIM:616788
HP:0010720	Abnormal hair pattern	25942	SIN3A	ORPHA:94065
HP:0010720	Abnormal hair pattern	25942	SIN3A	OMIM:613406
HP:0010720	Abnormal hair pattern	23028	KDM1A	ORPHA:477993
HP:0010720	Abnormal hair pattern	4212	MEIS2	OMIM:600987
HP:0010720	Abnormal hair pattern	5587	PRKD1	OMIM:617364
HP:0010720	Abnormal hair pattern	29072	SETD2	OMIM:616831
HP:0010720	Abnormal hair pattern	4858	NOVA2	OMIM:618859
HP:0010720	Abnormal hair pattern	25871	NEPRO	OMIM:618853
HP:0010720	Abnormal hair pattern	2245	FGD1	ORPHA:915
HP:0010720	Abnormal hair pattern	2783	GNB2	OMIM:619503
HP:0010720	Abnormal hair pattern	79633	FAT4	OMIM:615546
HP:0010720	Abnormal hair pattern	26057	ANKRD17	OMIM:619504
HP:0010720	Abnormal hair pattern	3720	JARID2	OMIM:620098
HP:0010720	Abnormal hair pattern	7291	TWIST1	ORPHA:794
HP:0010720	Abnormal hair pattern	2263	FGFR2	ORPHA:794
HP:0010720	Abnormal hair pattern	2261	FGFR3	ORPHA:794
HP:0010720	Abnormal hair pattern	341640	FREM2	ORPHA:2052
HP:0010720	Abnormal hair pattern	80144	FRAS1	ORPHA:2052
HP:0010720	Abnormal hair pattern	23426	GRIP1	ORPHA:2052
HP:0010720	Abnormal hair pattern	158326	FREM1	ORPHA:2717
HP:0010720	Abnormal hair pattern	10225	CD96	ORPHA:1308
HP:0010720	Abnormal hair pattern	3248	HPGD	ORPHA:2796
HP:0010720	Abnormal hair pattern	6578	SLCO2A1	ORPHA:2796
HP:0010720	Abnormal hair pattern	117581	TWIST2	ORPHA:920
HP:0010720	Abnormal hair pattern	117581	TWIST2	ORPHA:1807
HP:0010720	Abnormal hair pattern	197131	UBR1	ORPHA:2315
HP:0010720	Abnormal hair pattern	10682	EBP	ORPHA:35173
HP:0010720	Abnormal hair pattern	4010	LMX1B	ORPHA:495818
HP:0010720	Abnormal hair pattern	6812	STXBP1	ORPHA:495818
HP:0010720	Abnormal hair pattern	170302	ARX	ORPHA:2508
HP:0010720	Abnormal hair pattern	8450	CUL4B	ORPHA:85293
HP:0010720	Abnormal hair pattern	8241	RBM10	ORPHA:2886
HP:0010720	Abnormal hair pattern	5518	PPP2R1A	ORPHA:457284
HP:0010720	Abnormal hair pattern	5518	PPP2R1A	OMIM:616362
HP:0010720	Abnormal hair pattern	10617	STAMBP	OMIM:614261
HP:0010720	Abnormal hair pattern	4000	LMNA	ORPHA:79474
HP:0010720	Abnormal hair pattern	7486	WRN	ORPHA:902
HP:0010720	Abnormal hair pattern	84231	TRAF7	OMIM:618164
HP:0010720	Abnormal hair pattern	11253	MAN1B1	ORPHA:397941
HP:0010720	Abnormal hair pattern	1001	CDH3	OMIM:601553
HP:0010726	Prominent corneal nerve fibers	6655	SOS2	OMIM:616559
HP:0010726	Prominent corneal nerve fibers	8216	LZTR1	OMIM:616564
HP:0010729	Cherry red spot of the macula	427	ASAH1	ORPHA:333
HP:0010729	Cherry red spot of the macula	427	ASAH1	OMIM:228000
HP:0010729	Cherry red spot of the macula	5476	CTSA	ORPHA:351
HP:0010729	Cherry red spot of the macula	5476	CTSA	OMIM:256540
HP:0010729	Cherry red spot of the macula	6609	SMPD1	ORPHA:77293
HP:0010729	Cherry red spot of the macula	6609	SMPD1	OMIM:257200
HP:0010729	Cherry red spot of the macula	3074	HEXB	ORPHA:309155
HP:0010729	Cherry red spot of the macula	3074	HEXB	OMIM:268800
HP:0010729	Cherry red spot of the macula	2720	GLB1	OMIM:230500
HP:0010729	Cherry red spot of the macula	2720	GLB1	OMIM:230650
HP:0010729	Cherry red spot of the macula	2720	GLB1	ORPHA:79255
HP:0010729	Cherry red spot of the macula	2581	GALC	ORPHA:206436
HP:0010729	Cherry red spot of the macula	5660	PSAP	ORPHA:206436
HP:0010729	Cherry red spot of the macula	4758	NEU1	OMIM:256550
HP:0010729	Cherry red spot of the macula	4758	NEU1	ORPHA:93399
HP:0010729	Cherry red spot of the macula	4758	NEU1	ORPHA:812
HP:0010729	Cherry red spot of the macula	4758	NEU1	ORPHA:93400
HP:0010729	Cherry red spot of the macula	79583	TMEM231	ORPHA:2752
HP:0010729	Cherry red spot of the macula	3073	HEXA	OMIM:272800
HP:0010729	Cherry red spot of the macula	1615	DARS1	OMIM:615281
HP:0010729	Cherry red spot of the macula	2760	GM2A	ORPHA:309246
HP:0010729	Cherry red spot of the macula	10730	YME1L1	OMIM:617302
HP:0010724	Advanced pneumatization of the mastoid process	1009	CDH11	ORPHA:1299
HP:0010722	Asymmetry of the ears	25782	RAB3GAP2	OMIM:614225
HP:0010722	Asymmetry of the ears	22827	PUF60	ORPHA:508488
HP:0010722	Asymmetry of the ears	6611	SMS	ORPHA:3063
HP:0010722	Asymmetry of the ears	54880	BCOR	OMIM:300166
HP:0010722	Asymmetry of the ears	2571	GAD1	OMIM:619124
HP:0010722	Asymmetry of the ears	55870	ASH1L	OMIM:617796
HP:0010721	Abnormal hair whorl	7528	YY1	ORPHA:506358
HP:0010721	Abnormal hair whorl	7528	YY1	OMIM:617557
HP:0010721	Abnormal hair whorl	5422	POLA1	OMIM:301220
HP:0010721	Abnormal hair whorl	9759	HDAC4	OMIM:619797
HP:0010721	Abnormal hair whorl	8473	OGT	OMIM:300997
HP:0010721	Abnormal hair whorl	1387	CREBBP	OMIM:180849
HP:0010721	Abnormal hair whorl	2033	EP300	OMIM:180849
HP:0010721	Abnormal hair whorl	815	CAMK2A	OMIM:617798
HP:0010721	Abnormal hair whorl	9968	MED12	ORPHA:93932
HP:0010721	Abnormal hair whorl	9968	MED12	OMIM:305450
HP:0010721	Abnormal hair whorl	23389	MED13L	ORPHA:369891
HP:0010721	Abnormal hair whorl	7681	MKRN3	OMIM:176270
HP:0010721	Abnormal hair whorl	3653	IPW	OMIM:176270
HP:0010721	Abnormal hair whorl	54551	MAGEL2	OMIM:176270
HP:0010721	Abnormal hair whorl	791114	PWRN1	OMIM:176270
HP:0010721	Abnormal hair whorl	100033413	SNORD116-1	OMIM:176270
HP:0010721	Abnormal hair whorl	8924	HERC2	OMIM:176270
HP:0010721	Abnormal hair whorl	145624	PWAR1	OMIM:176270
HP:0010721	Abnormal hair whorl	23742	NPAP1	OMIM:176270
HP:0010721	Abnormal hair whorl	338433	SNORD115-1	OMIM:176270
HP:0010721	Abnormal hair whorl	2316	FLNA	OMIM:300321
HP:0010721	Abnormal hair whorl	7204	TRIO	OMIM:617061
HP:0010721	Abnormal hair whorl	197131	UBR1	OMIM:243800
HP:0010721	Abnormal hair whorl	9742	IFT140	OMIM:266920
HP:0010721	Abnormal hair whorl	27086	FOXP1	ORPHA:391372
HP:0010721	Abnormal hair whorl	9758	FRMPD4	OMIM:300983
HP:0010721	Abnormal hair whorl	9442	MED27	OMIM:619286
HP:0010721	Abnormal hair whorl	55012	PPP2R3C	OMIM:618419
HP:0010721	Abnormal hair whorl	23261	CAMTA1	OMIM:614756
HP:0010721	Abnormal hair whorl	6925	TCF4	OMIM:610954
HP:0010721	Abnormal hair whorl	7319	UBE2A	OMIM:300860
HP:0010721	Abnormal hair whorl	7319	UBE2A	ORPHA:163956
HP:0010721	Abnormal hair whorl	5518	PPP2R1A	ORPHA:457284
HP:0010721	Abnormal hair whorl	5518	PPP2R1A	OMIM:616362
HP:0010721	Abnormal hair whorl	10617	STAMBP	OMIM:614261
HP:0010721	Abnormal hair whorl	4000	LMNA	ORPHA:79474
HP:0010721	Abnormal hair whorl	7486	WRN	ORPHA:902
HP:0010721	Abnormal hair whorl	84231	TRAF7	OMIM:618164
HP:0010721	Abnormal hair whorl	10265	IRX5	OMIM:611174
HP:0010721	Abnormal hair whorl	11253	MAN1B1	ORPHA:397941
HP:0200136	Oral-pharyngeal dysphagia	3064	HTT	ORPHA:399
HP:0200136	Oral-pharyngeal dysphagia	6515	SLC2A3	ORPHA:399
HP:0200136	Oral-pharyngeal dysphagia	7528	YY1	ORPHA:506358
HP:0200136	Oral-pharyngeal dysphagia	1497	CTNS	OMIM:219800
HP:0200136	Oral-pharyngeal dysphagia	23394	ADNP	ORPHA:404448
HP:0200136	Oral-pharyngeal dysphagia	55768	NGLY1	OMIM:615273
HP:0200136	Oral-pharyngeal dysphagia	91574	MTRFR	ORPHA:254930
HP:0200136	Oral-pharyngeal dysphagia	5393	EXOSC9	OMIM:618065
HP:0200136	Oral-pharyngeal dysphagia	112	ADCY6	OMIM:616287
HP:0200136	Oral-pharyngeal dysphagia	8506	CNTNAP1	OMIM:616286
HP:0200136	Oral-pharyngeal dysphagia	201163	FLCN	OMIM:610883
HP:0200136	Oral-pharyngeal dysphagia	773	CACNA1A	ORPHA:2131
HP:0200136	Oral-pharyngeal dysphagia	6507	SLC1A3	ORPHA:2131
HP:0200136	Oral-pharyngeal dysphagia	477	ATP1A2	ORPHA:2131
HP:0200136	Oral-pharyngeal dysphagia	478	ATP1A3	ORPHA:2131
HP:0200136	Oral-pharyngeal dysphagia	7314	UBB	ORPHA:99772
HP:0200136	Oral-pharyngeal dysphagia	57822	GRHL3	ORPHA:99772
HP:0200136	Oral-pharyngeal dysphagia	222663	SCUBE3	OMIM:619184
HP:0200136	Oral-pharyngeal dysphagia	6872	TAF1	ORPHA:480907
HP:0200136	Oral-pharyngeal dysphagia	6872	TAF1	OMIM:300966
HP:0200136	Oral-pharyngeal dysphagia	374879	ZNF699	OMIM:619488
HP:0200136	Oral-pharyngeal dysphagia	4487	MSX1	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	5818	NECTIN1	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	1739	DLG1	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	652	BMP4	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	8626	TP63	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	999	CDH1	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	5156	PDGFRA	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	3664	IRF6	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	9411	ARHGAP29	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	1748	DLX4	ORPHA:199306
HP:0200136	Oral-pharyngeal dysphagia	283989	TSEN54	ORPHA:2524
HP:0200136	Oral-pharyngeal dysphagia	116461	TSEN15	ORPHA:2524
HP:0200136	Oral-pharyngeal dysphagia	79042	TSEN34	ORPHA:2524
HP:0200136	Oral-pharyngeal dysphagia	80746	TSEN2	ORPHA:2524
HP:0200136	Oral-pharyngeal dysphagia	51091	SEPSECS	ORPHA:2524
HP:0200136	Oral-pharyngeal dysphagia	128989	TANGO2	OMIM:616878
HP:0200136	Oral-pharyngeal dysphagia	443	ASPA	ORPHA:314911
HP:0200136	Oral-pharyngeal dysphagia	10743	RAI1	ORPHA:1713
HP:0200136	Oral-pharyngeal dysphagia	2902	GRIN1	ORPHA:208447
HP:0200136	Oral-pharyngeal dysphagia	10755	GIPC1	ORPHA:98897
HP:0200136	Oral-pharyngeal dysphagia	100996717	NOTCH2NLC	ORPHA:98897
HP:0200134	Epileptic encephalopathy	6323	SCN1A	OMIM:607208
HP:0200134	Epileptic encephalopathy	6323	SCN1A	ORPHA:1942
HP:0200134	Epileptic encephalopathy	79876	UBA5	OMIM:617132
HP:0200134	Epileptic encephalopathy	2775	GNAO1	OMIM:617493
HP:0200134	Epileptic encephalopathy	2775	GNAO1	OMIM:615473
HP:0200134	Epileptic encephalopathy	1183	CLCN4	OMIM:300114
HP:0200134	Epileptic encephalopathy	348980	HCN1	OMIM:615871
HP:0200134	Epileptic encephalopathy	343450	KCNT2	OMIM:617771
HP:0200134	Epileptic encephalopathy	23241	PACS2	OMIM:618067
HP:0200134	Epileptic encephalopathy	23334	SZT2	OMIM:615476
HP:0200134	Epileptic encephalopathy	10059	DNM1L	OMIM:614388
HP:0200134	Epileptic encephalopathy	9254	CACNA2D2	OMIM:618501
HP:0200134	Epileptic encephalopathy	8818	DPM2	ORPHA:329178
HP:0200134	Epileptic encephalopathy	53616	ADAM22	OMIM:617933
HP:0200134	Epileptic encephalopathy	10274	STAG1	ORPHA:502434
HP:0200134	Epileptic encephalopathy	79796	ALG9	OMIM:608776
HP:0200134	Epileptic encephalopathy	6328	SCN3A	OMIM:617938
HP:0200134	Epileptic encephalopathy	1119	CHKA	OMIM:620023
HP:0200134	Epileptic encephalopathy	170302	ARX	OMIM:308350
HP:0200134	Epileptic encephalopathy	64801	ARV1	OMIM:617020
HP:0200134	Epileptic encephalopathy	79587	CARS2	ORPHA:477774
HP:0200134	Epileptic encephalopathy	79587	CARS2	OMIM:616672
HP:0200134	Epileptic encephalopathy	8867	SYNJ1	OMIM:617389
HP:0200134	Epileptic encephalopathy	51741	WWOX	OMIM:616211
HP:0200134	Epileptic encephalopathy	10659	CELF2	OMIM:619561
HP:0200134	Epileptic encephalopathy	3745	KCNB1	OMIM:616056
HP:0200134	Epileptic encephalopathy	57465	TBC1D24	ORPHA:352596
HP:0200134	Epileptic encephalopathy	57465	TBC1D24	OMIM:615338
HP:0200134	Epileptic encephalopathy	790	CAD	OMIM:616457
HP:0200134	Epileptic encephalopathy	6487	ST3GAL3	OMIM:615006
HP:0200134	Epileptic encephalopathy	1106	CHD2	OMIM:615369
HP:0200134	Epileptic encephalopathy	1106	CHD2	ORPHA:1942
HP:0200134	Epileptic encephalopathy	2902	GRIN1	OMIM:617820
HP:0200134	Epileptic encephalopathy	2902	GRIN1	OMIM:619814
HP:0200134	Epileptic encephalopathy	6334	SCN8A	OMIM:614558
HP:0200134	Epileptic encephalopathy	55904	KMT2E	OMIM:618512
HP:0200134	Epileptic encephalopathy	16	AARS1	OMIM:616339
HP:0200134	Epileptic encephalopathy	55163	PNPO	ORPHA:79096
HP:0200134	Epileptic encephalopathy	2561	GABRB2	OMIM:617829
HP:0200134	Epileptic encephalopathy	57582	KCNT1	OMIM:614959
HP:0200134	Epileptic encephalopathy	63908	NAPB	OMIM:620033
HP:0200134	Epileptic encephalopathy	3192	HNRNPU	OMIM:617391
HP:0200134	Epileptic encephalopathy	2560	GABRB1	OMIM:617153
HP:0200134	Epileptic encephalopathy	23732	FRRS1L	OMIM:616981
HP:0200134	Epileptic encephalopathy	79641	ROGDI	OMIM:226750
HP:0200134	Epileptic encephalopathy	3899	AFF3	OMIM:619297
HP:0200134	Epileptic encephalopathy	150094	SIK1	OMIM:616341
HP:0200134	Epileptic encephalopathy	150094	SIK1	ORPHA:1935
HP:0200134	Epileptic encephalopathy	8120	AP3B2	OMIM:617276
HP:0200134	Epileptic encephalopathy	9512	PMPCB	OMIM:617954
HP:0200134	Epileptic encephalopathy	5530	PPP3CA	OMIM:617711
HP:0200134	Epileptic encephalopathy	23229	ARHGEF9	ORPHA:163985
HP:0200134	Epileptic encephalopathy	23229	ARHGEF9	OMIM:300607
HP:0200134	Epileptic encephalopathy	116150	NUS1	OMIM:617831
HP:0200134	Epileptic encephalopathy	1759	DNM1	OMIM:616346
HP:0200134	Epileptic encephalopathy	6709	SPTAN1	OMIM:613477
HP:0200134	Epileptic encephalopathy	4915	NTRK2	OMIM:617830
HP:0200134	Epileptic encephalopathy	79947	DHDDS	OMIM:617836
HP:0200134	Epileptic encephalopathy	9378	NRXN1	OMIM:614325
HP:0200134	Epileptic encephalopathy	26999	CYFIP2	OMIM:618008
HP:0200134	Epileptic encephalopathy	54675	CRLS1	OMIM:620167
HP:0200134	Epileptic encephalopathy	8604	SLC25A12	OMIM:612949
HP:0200134	Epileptic encephalopathy	23258	DENND5A	OMIM:617281
HP:0200134	Epileptic encephalopathy	774	CACNA1B	OMIM:618497
HP:0200134	Epileptic encephalopathy	11342	RNF13	OMIM:618379
HP:0200134	Epileptic encephalopathy	11342	RNF13	ORPHA:544503
HP:0200134	Epileptic encephalopathy	2906	GRIN2D	OMIM:617162
HP:0200134	Epileptic encephalopathy	4905	NSF	OMIM:619340
HP:0200134	Epileptic encephalopathy	5277	PIGA	OMIM:300868
HP:0200134	Epileptic encephalopathy	4761	NEUROD2	OMIM:618374
HP:0200134	Epileptic encephalopathy	523	ATP6V1A	OMIM:618012
HP:0200134	Epileptic encephalopathy	2257	FGF12	OMIM:617166
HP:0200134	Epileptic encephalopathy	56479	KCNQ5	OMIM:617601
HP:0200134	Epileptic encephalopathy	1641	DCX	ORPHA:2148
HP:0200134	Epileptic encephalopathy	388962	BOLA3	OMIM:614299
HP:0200134	Epileptic encephalopathy	2903	GRIN2A	ORPHA:98818
HP:0200134	Epileptic encephalopathy	1798	DPAGT1	ORPHA:86309
HP:0200134	Epileptic encephalopathy	6792	CDKL5	OMIM:300672
HP:0200134	Epileptic encephalopathy	3737	KCNA2	OMIM:616366
HP:0200134	Epileptic encephalopathy	23316	CUX2	OMIM:618141
HP:0200134	Epileptic encephalopathy	6812	STXBP1	OMIM:612164
HP:0200134	Epileptic encephalopathy	10815	CPLX1	OMIM:617976
HP:0200134	Epileptic encephalopathy	3747	KCNC2	OMIM:619913
HP:0200134	Epileptic encephalopathy	25977	NECAP1	OMIM:615833
HP:0200134	Epileptic encephalopathy	4191	MDH2	OMIM:617339
HP:0200134	Epileptic encephalopathy	79751	SLC25A22	OMIM:609304
HP:0200134	Epileptic encephalopathy	79751	SLC25A22	ORPHA:1935
HP:0200134	Epileptic encephalopathy	1917	EEF1A2	OMIM:616409
HP:0200134	Epileptic encephalopathy	79759	ZNF668	OMIM:620194
HP:0200134	Epileptic encephalopathy	10236	HNRNPR	OMIM:620073
HP:0200134	Epileptic encephalopathy	60558	GUF1	OMIM:617065
HP:0200134	Epileptic encephalopathy	2566	GABRG2	OMIM:618396
HP:0200134	Epileptic encephalopathy	7358	UGDH	OMIM:618792
HP:0200134	Epileptic encephalopathy	10991	SLC38A3	OMIM:619881
HP:0200134	Epileptic encephalopathy	2904	GRIN2B	OMIM:616139
HP:0200134	Epileptic encephalopathy	773	CACNA1A	OMIM:617106
HP:0200134	Epileptic encephalopathy	6506	SLC1A2	OMIM:617105
HP:0200134	Epileptic encephalopathy	4190	MDH1	OMIM:618959
HP:0200134	Epileptic encephalopathy	23031	MAST3	OMIM:620115
HP:0200134	Epileptic encephalopathy	25973	PARS2	OMIM:618437
HP:0200134	Epileptic encephalopathy	9568	GABBR2	OMIM:617904
HP:0200134	Epileptic encephalopathy	56652	TWNK	OMIM:271245
HP:0200134	Epileptic encephalopathy	7355	SLC35A2	OMIM:300896
HP:0200134	Epileptic encephalopathy	6324	SCN1B	OMIM:617350
HP:0200134	Epileptic encephalopathy	197258	FCSK	OMIM:618324
HP:0200134	Epileptic encephalopathy	54802	TRIT1	OMIM:617873
HP:0200134	Epileptic encephalopathy	777	CACNA1E	OMIM:618285
HP:0200134	Epileptic encephalopathy	2562	GABRB3	OMIM:617113
HP:0200134	Epileptic encephalopathy	51227	PIGP	OMIM:617599
HP:0200134	Epileptic encephalopathy	3785	KCNQ2	ORPHA:439218
HP:0200134	Epileptic encephalopathy	3785	KCNQ2	OMIM:613720
HP:0200134	Epileptic encephalopathy	8831	SYNGAP1	OMIM:612621
HP:0200134	Epileptic encephalopathy	8831	SYNGAP1	ORPHA:1942
HP:0200134	Epileptic encephalopathy	2744	GLS	OMIM:618328
HP:0200134	Epileptic encephalopathy	5048	PAFAH1B1	ORPHA:95232
HP:0200134	Epileptic encephalopathy	85440	DOCK7	OMIM:615859
HP:0200134	Epileptic encephalopathy	6513	SLC2A1	ORPHA:1942
HP:0200134	Epileptic encephalopathy	1173	AP2M1	ORPHA:1942
HP:0200134	Epileptic encephalopathy	340533	NEXMIF	ORPHA:1942
HP:0200134	Epileptic encephalopathy	6529	SLC6A1	ORPHA:1942
HP:0200134	Epileptic encephalopathy	51117	COQ4	OMIM:616276
HP:0200134	Epileptic encephalopathy	221692	PHACTR1	OMIM:618298
HP:0200134	Epileptic encephalopathy	4208	MEF2C	OMIM:613443
HP:0200134	Epileptic encephalopathy	6326	SCN2A	OMIM:613721
HP:0200134	Epileptic encephalopathy	2554	GABRA1	OMIM:615744
HP:0200134	Epileptic encephalopathy	23236	PLCB1	OMIM:613722
HP:0200134	Epileptic encephalopathy	10695	CNPY3	OMIM:617929
HP:0200134	Epileptic encephalopathy	284111	SLC13A5	OMIM:615905
HP:0200133	Lumbosacral meningocele	168667	BMPER	OMIM:608022
HP:0200133	Lumbosacral meningocele	6309	SC5D	OMIM:607330
HP:0000511	Vertical supranuclear gaze palsy	10577	NPC2	OMIM:607625
HP:0000511	Vertical supranuclear gaze palsy	5354	PLP1	OMIM:312080
HP:0000511	Vertical supranuclear gaze palsy	4137	MAPT	ORPHA:240071
HP:0000511	Vertical supranuclear gaze palsy	4137	MAPT	ORPHA:240094
HP:0000511	Vertical supranuclear gaze palsy	4137	MAPT	ORPHA:240112
HP:0000511	Vertical supranuclear gaze palsy	4137	MAPT	ORPHA:240085
HP:0000511	Vertical supranuclear gaze palsy	4137	MAPT	ORPHA:240103
HP:0000511	Vertical supranuclear gaze palsy	123263	MTFMT	OMIM:618248
HP:0000511	Vertical supranuclear gaze palsy	8659	ALDH4A1	ORPHA:79101
HP:0000511	Vertical supranuclear gaze palsy	4864	NPC1	OMIM:257220
HP:0000511	Vertical supranuclear gaze palsy	11128	POLR3A	ORPHA:447896
HP:0000511	Vertical supranuclear gaze palsy	11128	POLR3A	OMIM:607694
HP:0000511	Vertical supranuclear gaze palsy	6687	SPG7	OMIM:607259
HP:0000511	Vertical supranuclear gaze palsy	128240	NAXE	OMIM:617186
HP:0000511	Vertical supranuclear gaze palsy	5610	EIF2AK2	OMIM:619687
HP:0000511	Vertical supranuclear gaze palsy	8878	SQSTM1	OMIM:617145
HP:0000511	Vertical supranuclear gaze palsy	10528	NOP56	OMIM:614153
HP:0000511	Vertical supranuclear gaze palsy	8309	ACOX2	OMIM:617308
HP:0000511	Vertical supranuclear gaze palsy	1639	DCTN1	OMIM:168605
HP:0000511	Vertical supranuclear gaze palsy	55703	POLR3B	OMIM:607694
HP:0000511	Vertical supranuclear gaze palsy	440193	CCDC88C	ORPHA:423275
HP:0000511	Vertical supranuclear gaze palsy	51604	PIGT	ORPHA:369837
HP:0000511	Vertical supranuclear gaze palsy	2512	FTL	ORPHA:157846
HP:0000511	Vertical supranuclear gaze palsy	91754	NEK9	OMIM:614262
HP:0000511	Vertical supranuclear gaze palsy	23287	AGTPBP1	OMIM:618276
HP:0000511	Vertical supranuclear gaze palsy	10157	AASS	ORPHA:2203
HP:0000511	Vertical supranuclear gaze palsy	23230	VPS13A	ORPHA:2388
HP:0000511	Vertical supranuclear gaze palsy	3748	KCNC3	ORPHA:98768
HP:0000511	Vertical supranuclear gaze palsy	8398	PLA2G6	ORPHA:35069
HP:0000511	Vertical supranuclear gaze palsy	1737	DLAT	ORPHA:79244
HP:0000511	Vertical supranuclear gaze palsy	5428	POLG	ORPHA:70595
HP:0000511	Vertical supranuclear gaze palsy	56652	TWNK	ORPHA:70595
HP:0000511	Vertical supranuclear gaze palsy	23400	ATP13A2	ORPHA:314632
HP:0000511	Vertical supranuclear gaze palsy	6310	ATXN1	ORPHA:98755
HP:0000512	Abnormal electroretinogram	7399	USH2A	OMIM:613809
HP:0000512	Abnormal electroretinogram	7399	USH2A	ORPHA:231178
HP:0000512	Abnormal electroretinogram	7399	USH2A	ORPHA:791
HP:0000512	Abnormal electroretinogram	3769	KCNJ13	ORPHA:65
HP:0000512	Abnormal electroretinogram	343035	RD3	ORPHA:65
HP:0000512	Abnormal electroretinogram	145226	RDH12	ORPHA:65
HP:0000512	Abnormal electroretinogram	145226	RDH12	ORPHA:791
HP:0000512	Abnormal electroretinogram	1406	CRX	ORPHA:65
HP:0000512	Abnormal electroretinogram	1406	CRX	ORPHA:791
HP:0000512	Abnormal electroretinogram	1406	CRX	OMIM:120970
HP:0000512	Abnormal electroretinogram	64802	NMNAT1	ORPHA:65
HP:0000512	Abnormal electroretinogram	80184	CEP290	ORPHA:65
HP:0000512	Abnormal electroretinogram	80184	CEP290	ORPHA:110
HP:0000512	Abnormal electroretinogram	10383	TUBB4B	ORPHA:65
HP:0000512	Abnormal electroretinogram	9742	IFT140	ORPHA:65
HP:0000512	Abnormal electroretinogram	9742	IFT140	ORPHA:791
HP:0000512	Abnormal electroretinogram	85015	USP45	ORPHA:65
HP:0000512	Abnormal electroretinogram	23418	CRB1	ORPHA:65
HP:0000512	Abnormal electroretinogram	23418	CRB1	ORPHA:791
HP:0000512	Abnormal electroretinogram	9657	IQCB1	ORPHA:65
HP:0000512	Abnormal electroretinogram	392255	GDF6	ORPHA:65
HP:0000512	Abnormal electroretinogram	3000	GUCY2D	ORPHA:65
HP:0000512	Abnormal electroretinogram	9227	LRAT	ORPHA:65
HP:0000512	Abnormal electroretinogram	9227	LRAT	ORPHA:791
HP:0000512	Abnormal electroretinogram	55812	SPATA7	ORPHA:65
HP:0000512	Abnormal electroretinogram	55812	SPATA7	ORPHA:791
HP:0000512	Abnormal electroretinogram	7287	TULP1	ORPHA:65
HP:0000512	Abnormal electroretinogram	7287	TULP1	ORPHA:791
HP:0000512	Abnormal electroretinogram	167691	LCA5	ORPHA:65
HP:0000512	Abnormal electroretinogram	92482	BBIP1	ORPHA:110
HP:0000512	Abnormal electroretinogram	11020	IFT27	ORPHA:110
HP:0000512	Abnormal electroretinogram	582	BBS1	ORPHA:110
HP:0000512	Abnormal electroretinogram	582	BBS1	ORPHA:791
HP:0000512	Abnormal electroretinogram	49855	SCAPER	ORPHA:110
HP:0000512	Abnormal electroretinogram	49855	SCAPER	ORPHA:791
HP:0000512	Abnormal electroretinogram	4867	NPHP1	ORPHA:110
HP:0000512	Abnormal electroretinogram	51057	WDPCP	ORPHA:110
HP:0000512	Abnormal electroretinogram	27241	BBS9	ORPHA:110
HP:0000512	Abnormal electroretinogram	84984	CEP19	ORPHA:110
HP:0000512	Abnormal electroretinogram	22954	TRIM32	ORPHA:110
HP:0000512	Abnormal electroretinogram	54903	MKS1	ORPHA:110
HP:0000512	Abnormal electroretinogram	79738	BBS10	ORPHA:110
HP:0000512	Abnormal electroretinogram	123016	TTC8	ORPHA:110
HP:0000512	Abnormal electroretinogram	123016	TTC8	ORPHA:791
HP:0000512	Abnormal electroretinogram	26160	IFT172	ORPHA:110
HP:0000512	Abnormal electroretinogram	26160	IFT172	ORPHA:791
HP:0000512	Abnormal electroretinogram	583	BBS2	ORPHA:110
HP:0000512	Abnormal electroretinogram	583	BBS2	ORPHA:791
HP:0000512	Abnormal electroretinogram	585	BBS4	ORPHA:110
HP:0000512	Abnormal electroretinogram	8195	MKKS	ORPHA:110
HP:0000512	Abnormal electroretinogram	54585	LZTFL1	ORPHA:110
HP:0000512	Abnormal electroretinogram	55212	BBS7	ORPHA:110
HP:0000512	Abnormal electroretinogram	166379	BBS12	ORPHA:110
HP:0000512	Abnormal electroretinogram	10806	SDCCAG8	ORPHA:110
HP:0000512	Abnormal electroretinogram	84100	ARL6	ORPHA:110
HP:0000512	Abnormal electroretinogram	84100	ARL6	ORPHA:791
HP:0000512	Abnormal electroretinogram	129880	BBS5	ORPHA:110
HP:0000512	Abnormal electroretinogram	80173	IFT74	ORPHA:110
HP:0000512	Abnormal electroretinogram	79955	PDZD7	ORPHA:231178
HP:0000512	Abnormal electroretinogram	4647	MYO7A	ORPHA:231178
HP:0000512	Abnormal electroretinogram	4647	MYO7A	OMIM:276900
HP:0000512	Abnormal electroretinogram	4647	MYO7A	ORPHA:231169
HP:0000512	Abnormal electroretinogram	25861	WHRN	ORPHA:231178
HP:0000512	Abnormal electroretinogram	84059	ADGRV1	ORPHA:231178
HP:0000512	Abnormal electroretinogram	92840	REEP6	ORPHA:791
HP:0000512	Abnormal electroretinogram	6094	ROM1	ORPHA:791
HP:0000512	Abnormal electroretinogram	6094	ROM1	OMIM:608133
HP:0000512	Abnormal electroretinogram	130557	ZNF513	ORPHA:791
HP:0000512	Abnormal electroretinogram	92211	CDHR1	ORPHA:791
HP:0000512	Abnormal electroretinogram	23568	ARL2BP	ORPHA:791
HP:0000512	Abnormal electroretinogram	54806	AHI1	ORPHA:791
HP:0000512	Abnormal electroretinogram	54806	AHI1	OMIM:608629
HP:0000512	Abnormal electroretinogram	3419	IDH3A	ORPHA:791
HP:0000512	Abnormal electroretinogram	4751	NEK2	ORPHA:791
HP:0000512	Abnormal electroretinogram	346007	EYS	ORPHA:791
HP:0000512	Abnormal electroretinogram	8100	IFT88	ORPHA:791
HP:0000512	Abnormal electroretinogram	23020	SNRNP200	ORPHA:791
HP:0000512	Abnormal electroretinogram	762	CA4	ORPHA:791
HP:0000512	Abnormal electroretinogram	138050	HGSNAT	ORPHA:791
HP:0000512	Abnormal electroretinogram	196	AHR	ORPHA:791
HP:0000512	Abnormal electroretinogram	6103	RPGR	ORPHA:791
HP:0000512	Abnormal electroretinogram	5148	PDE6G	ORPHA:791
HP:0000512	Abnormal electroretinogram	26121	PRPF31	ORPHA:791
HP:0000512	Abnormal electroretinogram	4117	MAK	ORPHA:791
HP:0000512	Abnormal electroretinogram	25794	FSCN2	ORPHA:791
HP:0000512	Abnormal electroretinogram	3420	IDH3B	ORPHA:791
HP:0000512	Abnormal electroretinogram	57670	KIAA1549	ORPHA:791
HP:0000512	Abnormal electroretinogram	7275	TUB	ORPHA:791
HP:0000512	Abnormal electroretinogram	24148	PRPF6	ORPHA:791
HP:0000512	Abnormal electroretinogram	10461	MERTK	ORPHA:791
HP:0000512	Abnormal electroretinogram	57709	SLC7A14	ORPHA:791
HP:0000512	Abnormal electroretinogram	768206	PRCD	ORPHA:791
HP:0000512	Abnormal electroretinogram	23370	ARHGEF18	ORPHA:791
HP:0000512	Abnormal electroretinogram	5949	RBP3	ORPHA:791
HP:0000512	Abnormal electroretinogram	84140	FAM161A	ORPHA:791
HP:0000512	Abnormal electroretinogram	55624	POMGNT1	ORPHA:791
HP:0000512	Abnormal electroretinogram	79797	ZNF408	ORPHA:791
HP:0000512	Abnormal electroretinogram	403	ARL3	ORPHA:791
HP:0000512	Abnormal electroretinogram	5145	PDE6A	ORPHA:791
HP:0000512	Abnormal electroretinogram	5145	PDE6A	OMIM:613810
HP:0000512	Abnormal electroretinogram	10210	TOPORS	ORPHA:791
HP:0000512	Abnormal electroretinogram	10210	TOPORS	OMIM:609923
HP:0000512	Abnormal electroretinogram	8842	PROM1	ORPHA:791
HP:0000512	Abnormal electroretinogram	9128	PRPF4	ORPHA:791
HP:0000512	Abnormal electroretinogram	50939	IMPG2	ORPHA:791
HP:0000512	Abnormal electroretinogram	8481	OFD1	ORPHA:791
HP:0000512	Abnormal electroretinogram	2979	GUCA1B	ORPHA:791
HP:0000512	Abnormal electroretinogram	1259	CNGA1	ORPHA:791
HP:0000512	Abnormal electroretinogram	1258	CNGB1	ORPHA:791
HP:0000512	Abnormal electroretinogram	1258	CNGB1	OMIM:613767
HP:0000512	Abnormal electroretinogram	60509	AGBL5	ORPHA:791
HP:0000512	Abnormal electroretinogram	5961	PRPH2	ORPHA:791
HP:0000512	Abnormal electroretinogram	5961	PRPH2	OMIM:608133
HP:0000512	Abnormal electroretinogram	388939	PCARE	ORPHA:791
HP:0000512	Abnormal electroretinogram	388939	PCARE	OMIM:613428
HP:0000512	Abnormal electroretinogram	7439	BEST1	ORPHA:791
HP:0000512	Abnormal electroretinogram	7439	BEST1	OMIM:153700
HP:0000512	Abnormal electroretinogram	7439	BEST1	OMIM:613194
HP:0000512	Abnormal electroretinogram	9785	DHX38	ORPHA:791
HP:0000512	Abnormal electroretinogram	5995	RGR	ORPHA:791
HP:0000512	Abnormal electroretinogram	9129	PRPF3	ORPHA:791
HP:0000512	Abnormal electroretinogram	55975	KLHL7	ORPHA:791
HP:0000512	Abnormal electroretinogram	3617	IMPG1	ORPHA:791
HP:0000512	Abnormal electroretinogram	94137	RP1L1	ORPHA:791
HP:0000512	Abnormal electroretinogram	6102	RP2	ORPHA:791
HP:0000512	Abnormal electroretinogram	55857	KIZ	ORPHA:791
HP:0000512	Abnormal electroretinogram	64218	SEMA4A	ORPHA:791
HP:0000512	Abnormal electroretinogram	4901	NRL	ORPHA:791
HP:0000512	Abnormal electroretinogram	10594	PRPF8	ORPHA:791
HP:0000512	Abnormal electroretinogram	79947	DHDDS	ORPHA:791
HP:0000512	Abnormal electroretinogram	10681	GNB5	OMIM:617173
HP:0000512	Abnormal electroretinogram	10681	GNB5	ORPHA:542306
HP:0000512	Abnormal electroretinogram	23126	POGZ	OMIM:616364
HP:0000512	Abnormal electroretinogram	51	ACOX1	ORPHA:2971
HP:0000512	Abnormal electroretinogram	63895	PIEZO2	OMIM:108145
HP:0000512	Abnormal electroretinogram	63895	PIEZO2	ORPHA:1154
HP:0000512	Abnormal electroretinogram	10283	CWC27	ORPHA:166035
HP:0000512	Abnormal electroretinogram	291	SLC25A4	ORPHA:1369
HP:0000512	Abnormal electroretinogram	26007	TKFC	ORPHA:1369
HP:0000512	Abnormal electroretinogram	55750	AGK	ORPHA:1369
HP:0000512	Abnormal electroretinogram	30813	VSX1	OMIM:614195
HP:0000512	Abnormal electroretinogram	1121	CHM	ORPHA:180
HP:0000512	Abnormal electroretinogram	374879	ZNF699	OMIM:619488
HP:0000512	Abnormal electroretinogram	726	CAPN5	OMIM:193235
HP:0000512	Abnormal electroretinogram	7078	TIMP3	OMIM:136900
HP:0000512	Abnormal electroretinogram	51741	WWOX	OMIM:616211
HP:0000512	Abnormal electroretinogram	5146	PDE6C	ORPHA:1871
HP:0000512	Abnormal electroretinogram	2780	GNAT2	ORPHA:1871
HP:0000512	Abnormal electroretinogram	54714	CNGB3	ORPHA:1871
HP:0000512	Abnormal electroretinogram	2978	GUCA1A	ORPHA:1871
HP:0000512	Abnormal electroretinogram	6742	SSBP1	OMIM:165510
HP:0000512	Abnormal electroretinogram	57192	MCOLN1	ORPHA:578
HP:0000512	Abnormal electroretinogram	22901	ARSG	ORPHA:231183
HP:0000512	Abnormal electroretinogram	4575	MT-TS2	ORPHA:231183
HP:0000512	Abnormal electroretinogram	3035	HARS1	ORPHA:231183
HP:0000512	Abnormal electroretinogram	84131	CEP78	ORPHA:231183
HP:0000512	Abnormal electroretinogram	5189	PEX1	OMIM:214100
HP:0000512	Abnormal electroretinogram	7345	UCHL1	OMIM:615491
HP:0000512	Abnormal electroretinogram	9731	CEP104	OMIM:616781
HP:0000512	Abnormal electroretinogram	220074	LRTOMT	OMIM:611451
HP:0000512	Abnormal electroretinogram	10083	USH1C	OMIM:276900
HP:0000512	Abnormal electroretinogram	10083	USH1C	ORPHA:231169
HP:0000512	Abnormal electroretinogram	1678	TIMM8A	OMIM:304700
HP:0000512	Abnormal electroretinogram	3030	HADHA	ORPHA:5
HP:0000512	Abnormal electroretinogram	64072	CDH23	ORPHA:231169
HP:0000512	Abnormal electroretinogram	124590	USH1G	ORPHA:231169
HP:0000512	Abnormal electroretinogram	83715	ESPN	ORPHA:231169
HP:0000512	Abnormal electroretinogram	10518	CIB2	ORPHA:231169
HP:0000512	Abnormal electroretinogram	65217	PCDH15	ORPHA:231169
HP:0000512	Abnormal electroretinogram	54476	RNF216	ORPHA:1173
HP:0000512	Abnormal electroretinogram	10908	PNPLA6	ORPHA:1173
HP:0000512	Abnormal electroretinogram	2652	OPN1MW	ORPHA:16
HP:0000512	Abnormal electroretinogram	5956	OPN1LW	ORPHA:16
HP:0000512	Abnormal electroretinogram	23065	EMC1	OMIM:616875
HP:0000512	Abnormal electroretinogram	8803	SUCLA2	ORPHA:1933
HP:0000512	Abnormal electroretinogram	4854	NOTCH3	OMIM:125310
HP:0000512	Abnormal electroretinogram	3295	HSD17B4	OMIM:261515
HP:0000512	Abnormal electroretinogram	1201	CLN3	ORPHA:228346
HP:0000512	Abnormal electroretinogram	1201	CLN3	OMIM:204200
HP:0000512	Abnormal electroretinogram	2055	CLN8	ORPHA:1947
HP:0000512	Abnormal electroretinogram	23155	CLCC1	OMIM:609913
HP:0000512	Abnormal electroretinogram	5147	PDE6D	OMIM:615665
HP:0000512	Abnormal electroretinogram	1200	TPP1	OMIM:204500
HP:0000512	Abnormal electroretinogram	57545	CC2D2A	OMIM:619845
HP:0000512	Abnormal electroretinogram	28982	FLVCR1	OMIM:609033
HP:0000512	Abnormal electroretinogram	10195	ALG3	OMIM:601110
HP:0000512	Abnormal electroretinogram	5538	PPT1	OMIM:256730
HP:0000512	Abnormal electroretinogram	3423	IDS	ORPHA:217085
HP:0000512	Abnormal electroretinogram	3423	IDS	ORPHA:217093
HP:0000512	Abnormal electroretinogram	285440	CYP4V2	ORPHA:41751
HP:0000512	Abnormal electroretinogram	9215	LARGE1	OMIM:608840
HP:0000512	Abnormal electroretinogram	10002	NR2E3	OMIM:611131
HP:0000512	Abnormal electroretinogram	6121	RPE65	OMIM:204100
HP:0000512	Abnormal electroretinogram	375298	CERKL	OMIM:608380
HP:0000512	Abnormal electroretinogram	57096	RPGRIP1	OMIM:608194
HP:0000512	Abnormal electroretinogram	7401	CLRN1	OMIM:614180
HP:0000512	Abnormal electroretinogram	6101	RP1	OMIM:180100
HP:0000512	Abnormal electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0000512	Abnormal electroretinogram	23636	NUP62	ORPHA:225154
HP:0000512	Abnormal electroretinogram	103	ADAR	ORPHA:225154
HP:0000512	Abnormal electroretinogram	6100	RP9	OMIM:180104
HP:0000512	Abnormal electroretinogram	5130	PCYT1A	ORPHA:85167
HP:0000512	Abnormal electroretinogram	23746	AIPL1	OMIM:604393
HP:0000512	Abnormal electroretinogram	3614	IMPDH1	OMIM:180105
HP:0000512	Abnormal electroretinogram	24	ABCA4	OMIM:604116
HP:0000512	Abnormal electroretinogram	6247	RS1	OMIM:312700
HP:0000512	Abnormal electroretinogram	611	OPN1SW	OMIM:190900
HP:0000512	Abnormal electroretinogram	5959	RDH5	ORPHA:52427
HP:0000512	Abnormal electroretinogram	83552	MFRP	OMIM:611040
HP:0000512	Abnormal electroretinogram	22926	ATF6	ORPHA:49382
HP:0000512	Abnormal electroretinogram	1261	CNGA3	ORPHA:49382
HP:0000512	Abnormal electroretinogram	1261	CNGA3	OMIM:216900
HP:0000512	Abnormal electroretinogram	5149	PDE6H	OMIM:610024
HP:0000512	Abnormal electroretinogram	9371	KIF3B	OMIM:618955
HP:0000512	Abnormal electroretinogram	5193	PEX12	OMIM:266510
HP:0000512	Abnormal electroretinogram	6017	RLBP1	ORPHA:85128
HP:0000512	Abnormal electroretinogram	778	CACNA1F	OMIM:300071
HP:0000512	Abnormal electroretinogram	157657	CFAP418	OMIM:617406
HP:0000512	Abnormal electroretinogram	4308	TRPM1	ORPHA:215
HP:0000512	Abnormal electroretinogram	57010	CABP4	ORPHA:215
HP:0000512	Abnormal electroretinogram	345193	LRIT3	ORPHA:215
HP:0000512	Abnormal electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0000512	Abnormal electroretinogram	2916	GRM6	ORPHA:215
HP:0000512	Abnormal electroretinogram	5158	PDE6B	ORPHA:215
HP:0000512	Abnormal electroretinogram	440435	GPR179	ORPHA:215
HP:0000512	Abnormal electroretinogram	6011	GRK1	ORPHA:215
HP:0000512	Abnormal electroretinogram	6010	RHO	ORPHA:215
HP:0000512	Abnormal electroretinogram	9187	SLC24A1	ORPHA:215
HP:0000512	Abnormal electroretinogram	6295	SAG	ORPHA:215
HP:0000512	Abnormal electroretinogram	2784	GNB3	ORPHA:215
HP:0000512	Abnormal electroretinogram	2779	GNAT1	ORPHA:215
HP:0000512	Abnormal electroretinogram	60506	NYX	ORPHA:215
HP:0000512	Abnormal electroretinogram	83723	TLCD3B	OMIM:619531
HP:0000512	Abnormal electroretinogram	23093	TTLL5	OMIM:615860
HP:0000514	Slow saccadic eye movements	23646	PLD3	OMIM:617770
HP:0000514	Slow saccadic eye movements	23446	SLC44A1	OMIM:618868
HP:0000514	Slow saccadic eye movements	4361	MRE11	ORPHA:251347
HP:0000514	Slow saccadic eye movements	5828	PEX2	OMIM:614867
HP:0000514	Slow saccadic eye movements	60481	ELOVL5	OMIM:615957
HP:0000514	Slow saccadic eye movements	60481	ELOVL5	ORPHA:423296
HP:0000514	Slow saccadic eye movements	492	ATP2B3	OMIM:302500
HP:0000514	Slow saccadic eye movements	724066	ATXN8	OMIM:608768
HP:0000514	Slow saccadic eye movements	6315	ATXN8OS	OMIM:608768
HP:0000514	Slow saccadic eye movements	5621	PRNP	ORPHA:157941
HP:0000514	Slow saccadic eye movements	6472	SHMT2	OMIM:619121
HP:0000514	Slow saccadic eye movements	6311	ATXN2	OMIM:183090
HP:0000514	Slow saccadic eye movements	6311	ATXN2	ORPHA:98756
HP:0000514	Slow saccadic eye movements	5173	PDYN	ORPHA:101108
HP:0000514	Slow saccadic eye movements	5173	PDYN	OMIM:610245
HP:0000514	Slow saccadic eye movements	10528	NOP56	OMIM:614153
HP:0000514	Slow saccadic eye movements	10528	NOP56	ORPHA:276198
HP:0000514	Slow saccadic eye movements	10939	AFG3L2	ORPHA:101109
HP:0000514	Slow saccadic eye movements	10939	AFG3L2	OMIM:610246
HP:0000514	Slow saccadic eye movements	23287	AGTPBP1	OMIM:618276
HP:0000514	Slow saccadic eye movements	11261	CHP1	OMIM:618438
HP:0000514	Slow saccadic eye movements	6314	ATXN7	OMIM:164500
HP:0000514	Slow saccadic eye movements	6310	ATXN1	ORPHA:98755
HP:0000514	Slow saccadic eye movements	6310	ATXN1	OMIM:164400
HP:0000514	Slow saccadic eye movements	343641	TGM6	OMIM:613908
HP:0000514	Slow saccadic eye movements	7143	TNR	OMIM:619653
HP:0000514	Slow saccadic eye movements	4137	MAPT	ORPHA:240071
HP:0000514	Slow saccadic eye movements	4137	MAPT	ORPHA:240103
HP:0000514	Slow saccadic eye movements	55157	DARS2	ORPHA:137898
HP:0000514	Slow saccadic eye movements	51079	NDUFA13	OMIM:618249
HP:0000514	Slow saccadic eye movements	23533	PIK3R5	OMIM:615217
HP:0000514	Slow saccadic eye movements	6843	VAMP1	OMIM:108600
HP:0000514	Slow saccadic eye movements	6843	VAMP1	ORPHA:251282
HP:0000514	Slow saccadic eye movements	57679	ALS2	OMIM:607225
HP:0000514	Slow saccadic eye movements	23400	ATP13A2	OMIM:606693
HP:0000514	Slow saccadic eye movements	23400	ATP13A2	ORPHA:306674
HP:0000514	Slow saccadic eye movements	51102	MECR	OMIM:617282
HP:0000514	Slow saccadic eye movements	84274	COQ5	OMIM:619028
HP:0000514	Slow saccadic eye movements	127833	SYT2	OMIM:619461
HP:0000514	Slow saccadic eye movements	25793	FBXO7	ORPHA:171695
HP:0000514	Slow saccadic eye movements	25793	FBXO7	OMIM:260300
HP:0000514	Slow saccadic eye movements	6622	SNCA	ORPHA:171695
HP:0000514	Slow saccadic eye movements	23230	VPS13A	ORPHA:2388
HP:0000514	Slow saccadic eye movements	8449	DHX16	OMIM:618733
HP:0000514	Slow saccadic eye movements	57165	GJC2	OMIM:613206
HP:0000514	Slow saccadic eye movements	339453	TMEM240	OMIM:607454
HP:0000514	Slow saccadic eye movements	6342	SCP2	OMIM:613724
HP:0000514	Slow saccadic eye movements	55129	ANO10	OMIM:613728
HP:0000514	Slow saccadic eye movements	2629	GBA1	OMIM:231005
HP:0000517	Abnormal lens morphology	22856	CHSY1	ORPHA:363417
HP:0000517	Abnormal lens morphology	1409	CRYAA	OMIM:604219
HP:0000517	Abnormal lens morphology	1409	CRYAA	ORPHA:1377
HP:0000517	Abnormal lens morphology	2218	FKTN	ORPHA:272
HP:0000517	Abnormal lens morphology	2218	FKTN	ORPHA:588
HP:0000517	Abnormal lens morphology	2218	FKTN	OMIM:236670
HP:0000517	Abnormal lens morphology	2218	FKTN	ORPHA:899
HP:0000517	Abnormal lens morphology	2218	FKTN	OMIM:253800
HP:0000517	Abnormal lens morphology	1410	CRYAB	OMIM:608810
HP:0000517	Abnormal lens morphology	1410	CRYAB	OMIM:615184
HP:0000517	Abnormal lens morphology	26235	FBXL4	OMIM:615471
HP:0000517	Abnormal lens morphology	29925	GMPPB	OMIM:615350
HP:0000517	Abnormal lens morphology	29925	GMPPB	OMIM:615351
HP:0000517	Abnormal lens morphology	29925	GMPPB	OMIM:615352
HP:0000517	Abnormal lens morphology	29925	GMPPB	ORPHA:588
HP:0000517	Abnormal lens morphology	29925	GMPPB	ORPHA:370959
HP:0000517	Abnormal lens morphology	29925	GMPPB	ORPHA:363623
HP:0000517	Abnormal lens morphology	83932	SPRTN	OMIM:616200
HP:0000517	Abnormal lens morphology	2200	FBN1	ORPHA:1885
HP:0000517	Abnormal lens morphology	2200	FBN1	OMIM:184900
HP:0000517	Abnormal lens morphology	2200	FBN1	OMIM:608328
HP:0000517	Abnormal lens morphology	2200	FBN1	ORPHA:3449
HP:0000517	Abnormal lens morphology	2200	FBN1	OMIM:154700
HP:0000517	Abnormal lens morphology	54507	ADAMTSL4	ORPHA:1885
HP:0000517	Abnormal lens morphology	54507	ADAMTSL4	OMIM:225200
HP:0000517	Abnormal lens morphology	1161	ERCC8	ORPHA:90324
HP:0000517	Abnormal lens morphology	1161	ERCC8	ORPHA:90321
HP:0000517	Abnormal lens morphology	1161	ERCC8	OMIM:216400
HP:0000517	Abnormal lens morphology	2074	ERCC6	ORPHA:90324
HP:0000517	Abnormal lens morphology	2074	ERCC6	ORPHA:90321
HP:0000517	Abnormal lens morphology	2074	ERCC6	OMIM:214150
HP:0000517	Abnormal lens morphology	2074	ERCC6	ORPHA:1466
HP:0000517	Abnormal lens morphology	2972	BRF1	OMIM:616202
HP:0000517	Abnormal lens morphology	2972	BRF1	ORPHA:444072
HP:0000517	Abnormal lens morphology	60684	TRAPPC11	OMIM:615356
HP:0000517	Abnormal lens morphology	60684	TRAPPC11	ORPHA:369840
HP:0000517	Abnormal lens morphology	60684	TRAPPC11	ORPHA:369847
HP:0000517	Abnormal lens morphology	4897	NRCAM	OMIM:619833
HP:0000517	Abnormal lens morphology	81857	MED25	OMIM:616449
HP:0000517	Abnormal lens morphology	1786	DNMT1	ORPHA:314404
HP:0000517	Abnormal lens morphology	84942	WDR73	OMIM:251300
HP:0000517	Abnormal lens morphology	4693	NDP	OMIM:310600
HP:0000517	Abnormal lens morphology	4693	NDP	ORPHA:891
HP:0000517	Abnormal lens morphology	4693	NDP	ORPHA:649
HP:0000517	Abnormal lens morphology	4693	NDP	ORPHA:91495
HP:0000517	Abnormal lens morphology	4693	NDP	ORPHA:190
HP:0000517	Abnormal lens morphology	1736	DKC1	OMIM:305000
HP:0000517	Abnormal lens morphology	1736	DKC1	ORPHA:1775
HP:0000517	Abnormal lens morphology	5830	PEX5	OMIM:214110
HP:0000517	Abnormal lens morphology	5830	PEX5	ORPHA:772
HP:0000517	Abnormal lens morphology	5830	PEX5	ORPHA:44
HP:0000517	Abnormal lens morphology	5830	PEX5	ORPHA:912
HP:0000517	Abnormal lens morphology	2072	ERCC4	ORPHA:90321
HP:0000517	Abnormal lens morphology	2072	ERCC4	ORPHA:84
HP:0000517	Abnormal lens morphology	2072	ERCC4	ORPHA:910
HP:0000517	Abnormal lens morphology	347733	TUBB2B	ORPHA:1766
HP:0000517	Abnormal lens morphology	7436	VLDLR	ORPHA:1766
HP:0000517	Abnormal lens morphology	7436	VLDLR	OMIM:224050
HP:0000517	Abnormal lens morphology	124997	WDR81	ORPHA:1766
HP:0000517	Abnormal lens morphology	51761	ATP8A2	ORPHA:1766
HP:0000517	Abnormal lens morphology	767	CA8	ORPHA:1766
HP:0000517	Abnormal lens morphology	6720	SREBF1	OMIM:158310
HP:0000517	Abnormal lens morphology	6720	SREBF1	OMIM:619016
HP:0000517	Abnormal lens morphology	4125	MAN2B1	ORPHA:309282
HP:0000517	Abnormal lens morphology	4125	MAN2B1	ORPHA:309288
HP:0000517	Abnormal lens morphology	114803	MYSM1	ORPHA:508542
HP:0000517	Abnormal lens morphology	54714	CNGB3	OMIM:262300
HP:0000517	Abnormal lens morphology	126792	B3GALT6	ORPHA:2725
HP:0000517	Abnormal lens morphology	5728	PTEN	ORPHA:2969
HP:0000517	Abnormal lens morphology	5728	PTEN	ORPHA:201
HP:0000517	Abnormal lens morphology	5728	PTEN	ORPHA:744
HP:0000517	Abnormal lens morphology	5728	PTEN	OMIM:158350
HP:0000517	Abnormal lens morphology	84197	POMK	OMIM:615249
HP:0000517	Abnormal lens morphology	84197	POMK	ORPHA:899
HP:0000517	Abnormal lens morphology	84197	POMK	ORPHA:370959
HP:0000517	Abnormal lens morphology	4286	MITF	OMIM:617306
HP:0000517	Abnormal lens morphology	7486	WRN	OMIM:277700
HP:0000517	Abnormal lens morphology	7486	WRN	ORPHA:902
HP:0000517	Abnormal lens morphology	7086	TKT	ORPHA:488618
HP:0000517	Abnormal lens morphology	5189	PEX1	OMIM:214100
HP:0000517	Abnormal lens morphology	5189	PEX1	ORPHA:772
HP:0000517	Abnormal lens morphology	5189	PEX1	ORPHA:44
HP:0000517	Abnormal lens morphology	5189	PEX1	ORPHA:912
HP:0000517	Abnormal lens morphology	3105	HLA-A	ORPHA:179
HP:0000517	Abnormal lens morphology	220202	ATOH7	OMIM:221900
HP:0000517	Abnormal lens morphology	220202	ATOH7	ORPHA:91495
HP:0000517	Abnormal lens morphology	112802	KRT71	ORPHA:170
HP:0000517	Abnormal lens morphology	121391	KRT74	ORPHA:170
HP:0000517	Abnormal lens morphology	200879	LIPH	ORPHA:170
HP:0000517	Abnormal lens morphology	10161	LPAR6	ORPHA:170
HP:0000517	Abnormal lens morphology	147183	KRT25	ORPHA:170
HP:0000517	Abnormal lens morphology	23250	ATP11A	OMIM:619851
HP:0000517	Abnormal lens morphology	5832	ALDH18A1	OMIM:616586
HP:0000517	Abnormal lens morphology	5832	ALDH18A1	OMIM:601162
HP:0000517	Abnormal lens morphology	5832	ALDH18A1	ORPHA:35664
HP:0000517	Abnormal lens morphology	5832	ALDH18A1	OMIM:219150
HP:0000517	Abnormal lens morphology	1298	COL9A2	OMIM:614284
HP:0000517	Abnormal lens morphology	1298	COL9A2	ORPHA:250984
HP:0000517	Abnormal lens morphology	130589	GALM	OMIM:618881
HP:0000517	Abnormal lens morphology	130589	GALM	ORPHA:570422
HP:0000517	Abnormal lens morphology	2671	GFER	OMIM:613076
HP:0000517	Abnormal lens morphology	79797	ZNF408	OMIM:616468
HP:0000517	Abnormal lens morphology	79797	ZNF408	ORPHA:791
HP:0000517	Abnormal lens morphology	79797	ZNF408	ORPHA:891
HP:0000517	Abnormal lens morphology	54880	BCOR	ORPHA:2712
HP:0000517	Abnormal lens morphology	54880	BCOR	ORPHA:568
HP:0000517	Abnormal lens morphology	55699	IARS2	ORPHA:436174
HP:0000517	Abnormal lens morphology	55699	IARS2	OMIM:616007
HP:0000517	Abnormal lens morphology	27151	CPAMD8	OMIM:617319
HP:0000517	Abnormal lens morphology	51109	RDH11	OMIM:616108
HP:0000517	Abnormal lens morphology	84100	ARL6	OMIM:209900
HP:0000517	Abnormal lens morphology	84100	ARL6	ORPHA:791
HP:0000517	Abnormal lens morphology	79140	CCDC28B	OMIM:209900
HP:0000517	Abnormal lens morphology	582	BBS1	OMIM:209900
HP:0000517	Abnormal lens morphology	582	BBS1	ORPHA:791
HP:0000517	Abnormal lens morphology	79184	BRCC3	ORPHA:280679
HP:0000517	Abnormal lens morphology	6100	RP9	OMIM:180104
HP:0000517	Abnormal lens morphology	6100	RP9	ORPHA:791
HP:0000517	Abnormal lens morphology	2697	GJA1	ORPHA:2710
HP:0000517	Abnormal lens morphology	2697	GJA1	ORPHA:317
HP:0000517	Abnormal lens morphology	2697	GJA1	OMIM:164200
HP:0000517	Abnormal lens morphology	2697	GJA1	OMIM:257850
HP:0000517	Abnormal lens morphology	7020	TFAP2A	OMIM:113620
HP:0000517	Abnormal lens morphology	7020	TFAP2A	ORPHA:1297
HP:0000517	Abnormal lens morphology	2512	FTL	ORPHA:163
HP:0000517	Abnormal lens morphology	2512	FTL	ORPHA:254704
HP:0000517	Abnormal lens morphology	857	CAV1	OMIM:606721
HP:0000517	Abnormal lens morphology	23347	SMCHD1	OMIM:603457
HP:0000517	Abnormal lens morphology	23347	SMCHD1	ORPHA:2250
HP:0000517	Abnormal lens morphology	8726	EED	OMIM:617561
HP:0000517	Abnormal lens morphology	54968	TMEM70	OMIM:614052
HP:0000517	Abnormal lens morphology	8550	MAPKAPK5	OMIM:619869
HP:0000517	Abnormal lens morphology	1301	COL11A1	ORPHA:90654
HP:0000517	Abnormal lens morphology	1301	COL11A1	OMIM:604841
HP:0000517	Abnormal lens morphology	1301	COL11A1	ORPHA:560
HP:0000517	Abnormal lens morphology	1301	COL11A1	OMIM:154780
HP:0000517	Abnormal lens morphology	1301	COL11A1	ORPHA:250984
HP:0000517	Abnormal lens morphology	1201	CLN3	OMIM:204200
HP:0000517	Abnormal lens morphology	1201	CLN3	ORPHA:228346
HP:0000517	Abnormal lens morphology	64132	XYLT2	ORPHA:85194
HP:0000517	Abnormal lens morphology	64132	XYLT2	OMIM:605822
HP:0000517	Abnormal lens morphology	23268	DNMBP	OMIM:618415
HP:0000517	Abnormal lens morphology	10716	TBR1	ORPHA:1617
HP:0000517	Abnormal lens morphology	2316	FLNA	ORPHA:90652
HP:0000517	Abnormal lens morphology	2316	FLNA	OMIM:304120
HP:0000517	Abnormal lens morphology	81794	ADAMTS10	OMIM:277600
HP:0000517	Abnormal lens morphology	81794	ADAMTS10	ORPHA:3449
HP:0000517	Abnormal lens morphology	3981	LIG4	ORPHA:235
HP:0000517	Abnormal lens morphology	54888	NSUN2	ORPHA:235
HP:0000517	Abnormal lens morphology	1349	COX7B	OMIM:309801
HP:0000517	Abnormal lens morphology	3052	HCCS	OMIM:309801
HP:0000517	Abnormal lens morphology	54539	NDUFB11	OMIM:309801
HP:0000517	Abnormal lens morphology	2936	GSR	OMIM:618660
HP:0000517	Abnormal lens morphology	3769	KCNJ13	OMIM:614186
HP:0000517	Abnormal lens morphology	3769	KCNJ13	ORPHA:65
HP:0000517	Abnormal lens morphology	3769	KCNJ13	OMIM:193230
HP:0000517	Abnormal lens morphology	27125	AFF4	OMIM:616368
HP:0000517	Abnormal lens morphology	27125	AFF4	ORPHA:444077
HP:0000517	Abnormal lens morphology	2592	GALT	OMIM:230400
HP:0000517	Abnormal lens morphology	2592	GALT	ORPHA:79239
HP:0000517	Abnormal lens morphology	116115	ZNF526	OMIM:619877
HP:0000517	Abnormal lens morphology	5590	PRKCZ	ORPHA:1606
HP:0000517	Abnormal lens morphology	2563	GABRD	ORPHA:1606
HP:0000517	Abnormal lens morphology	23013	SPEN	ORPHA:1606
HP:0000517	Abnormal lens morphology	8510	MMP23B	ORPHA:1606
HP:0000517	Abnormal lens morphology	7798	LUZP1	ORPHA:1606
HP:0000517	Abnormal lens morphology	6497	SKI	ORPHA:1606
HP:0000517	Abnormal lens morphology	10630	PDPN	ORPHA:1606
HP:0000517	Abnormal lens morphology	3339	HSPG2	ORPHA:1606
HP:0000517	Abnormal lens morphology	3339	HSPG2	OMIM:255800
HP:0000517	Abnormal lens morphology	3339	HSPG2	OMIM:224410
HP:0000517	Abnormal lens morphology	3339	HSPG2	ORPHA:800
HP:0000517	Abnormal lens morphology	10277	UBE4B	ORPHA:1606
HP:0000517	Abnormal lens morphology	8514	KCNAB2	ORPHA:1606
HP:0000517	Abnormal lens morphology	473	RERE	ORPHA:1606
HP:0000517	Abnormal lens morphology	63976	PRDM16	ORPHA:1606
HP:0000517	Abnormal lens morphology	54897	CASZ1	ORPHA:1606
HP:0000517	Abnormal lens morphology	415	ARSL	ORPHA:79345
HP:0000517	Abnormal lens morphology	415	ARSL	OMIM:302950
HP:0000517	Abnormal lens morphology	4567	MT-TL1	ORPHA:225
HP:0000517	Abnormal lens morphology	4556	MT-TE	ORPHA:225
HP:0000517	Abnormal lens morphology	4566	MT-TK	ORPHA:225
HP:0000517	Abnormal lens morphology	148789	B3GALNT2	ORPHA:588
HP:0000517	Abnormal lens morphology	148789	B3GALNT2	OMIM:615181
HP:0000517	Abnormal lens morphology	148789	B3GALNT2	ORPHA:899
HP:0000517	Abnormal lens morphology	79147	FKRP	ORPHA:588
HP:0000517	Abnormal lens morphology	79147	FKRP	OMIM:236670
HP:0000517	Abnormal lens morphology	79147	FKRP	ORPHA:899
HP:0000517	Abnormal lens morphology	79147	FKRP	ORPHA:370959
HP:0000517	Abnormal lens morphology	79147	FKRP	OMIM:613153
HP:0000517	Abnormal lens morphology	9215	LARGE1	ORPHA:588
HP:0000517	Abnormal lens morphology	9215	LARGE1	OMIM:236670
HP:0000517	Abnormal lens morphology	9215	LARGE1	ORPHA:899
HP:0000517	Abnormal lens morphology	29954	POMT2	ORPHA:588
HP:0000517	Abnormal lens morphology	29954	POMT2	OMIM:236670
HP:0000517	Abnormal lens morphology	29954	POMT2	ORPHA:899
HP:0000517	Abnormal lens morphology	29954	POMT2	ORPHA:370959
HP:0000517	Abnormal lens morphology	29954	POMT2	OMIM:613150
HP:0000517	Abnormal lens morphology	55624	POMGNT1	ORPHA:588
HP:0000517	Abnormal lens morphology	55624	POMGNT1	ORPHA:791
HP:0000517	Abnormal lens morphology	55624	POMGNT1	ORPHA:899
HP:0000517	Abnormal lens morphology	55624	POMGNT1	ORPHA:370959
HP:0000517	Abnormal lens morphology	55624	POMGNT1	OMIM:253280
HP:0000517	Abnormal lens morphology	10585	POMT1	ORPHA:588
HP:0000517	Abnormal lens morphology	10585	POMT1	OMIM:236670
HP:0000517	Abnormal lens morphology	10585	POMT1	ORPHA:899
HP:0000517	Abnormal lens morphology	10585	POMT1	ORPHA:370959
HP:0000517	Abnormal lens morphology	229	ALDOB	ORPHA:469
HP:0000517	Abnormal lens morphology	85365	ALG2	ORPHA:79326
HP:0000517	Abnormal lens morphology	85365	ALG2	OMIM:607906
HP:0000517	Abnormal lens morphology	285362	SUMF1	ORPHA:585
HP:0000517	Abnormal lens morphology	8517	IKBKG	ORPHA:464
HP:0000517	Abnormal lens morphology	8517	IKBKG	OMIM:308300
HP:0000517	Abnormal lens morphology	55210	ATAD3A	ORPHA:496790
HP:0000517	Abnormal lens morphology	5605	MAP2K2	OMIM:615280
HP:0000517	Abnormal lens morphology	253959	RALGAPA1	OMIM:618797
HP:0000517	Abnormal lens morphology	2232	FDXR	ORPHA:543470
HP:0000517	Abnormal lens morphology	4285	MIPEP	OMIM:617228
HP:0000517	Abnormal lens morphology	6121	RPE65	OMIM:204100
HP:0000517	Abnormal lens morphology	6121	RPE65	ORPHA:791
HP:0000517	Abnormal lens morphology	6121	RPE65	ORPHA:65
HP:0000517	Abnormal lens morphology	9562	MINPP1	OMIM:619527
HP:0000517	Abnormal lens morphology	26154	ABCA12	ORPHA:457
HP:0000517	Abnormal lens morphology	5373	PMM2	ORPHA:79318
HP:0000517	Abnormal lens morphology	5727	PTCH1	ORPHA:377
HP:0000517	Abnormal lens morphology	5727	PTCH1	OMIM:109400
HP:0000517	Abnormal lens morphology	5727	PTCH1	ORPHA:77301
HP:0000517	Abnormal lens morphology	8643	PTCH2	ORPHA:377
HP:0000517	Abnormal lens morphology	51684	SUFU	ORPHA:377
HP:0000517	Abnormal lens morphology	57724	EPG5	OMIM:242840
HP:0000517	Abnormal lens morphology	57724	EPG5	ORPHA:1493
HP:0000517	Abnormal lens morphology	55739	NAXD	OMIM:618321
HP:0000517	Abnormal lens morphology	326	AIRE	OMIM:240300
HP:0000517	Abnormal lens morphology	326	AIRE	ORPHA:3453
HP:0000517	Abnormal lens morphology	57479	PRR12	OMIM:619539
HP:0000517	Abnormal lens morphology	5741	PTH	OMIM:146200
HP:0000517	Abnormal lens morphology	4052	LTBP1	ORPHA:90349
HP:0000517	Abnormal lens morphology	30008	EFEMP2	ORPHA:90349
HP:0000517	Abnormal lens morphology	10516	FBLN5	ORPHA:90349
HP:0000517	Abnormal lens morphology	2303	FOXC2	ORPHA:33001
HP:0000517	Abnormal lens morphology	2317	FLNB	OMIM:272460
HP:0000517	Abnormal lens morphology	10195	ALG3	ORPHA:79321
HP:0000517	Abnormal lens morphology	64127	NOD2	ORPHA:90340
HP:0000517	Abnormal lens morphology	64127	NOD2	OMIM:186580
HP:0000517	Abnormal lens morphology	2778	GNAS	ORPHA:79443
HP:0000517	Abnormal lens morphology	2778	GNAS	ORPHA:79444
HP:0000517	Abnormal lens morphology	2778	GNAS	ORPHA:94089
HP:0000517	Abnormal lens morphology	2778	GNAS	OMIM:612463
HP:0000517	Abnormal lens morphology	2778	GNAS	OMIM:612462
HP:0000517	Abnormal lens morphology	2778	GNAS	OMIM:103580
HP:0000517	Abnormal lens morphology	84295	PHF6	ORPHA:127
HP:0000517	Abnormal lens morphology	79053	ALG8	ORPHA:79325
HP:0000517	Abnormal lens morphology	9896	FIG4	OMIM:216340
HP:0000517	Abnormal lens morphology	9896	FIG4	ORPHA:3472
HP:0000517	Abnormal lens morphology	257	ALX3	OMIM:136760
HP:0000517	Abnormal lens morphology	257	ALX3	ORPHA:391474
HP:0000517	Abnormal lens morphology	23676	SMPX	OMIM:301075
HP:0000517	Abnormal lens morphology	404672	GTF2H5	OMIM:616395
HP:0000517	Abnormal lens morphology	1387	CREBBP	OMIM:618332
HP:0000517	Abnormal lens morphology	1387	CREBBP	ORPHA:353281
HP:0000517	Abnormal lens morphology	1387	CREBBP	OMIM:180849
HP:0000517	Abnormal lens morphology	1387	CREBBP	ORPHA:353277
HP:0000517	Abnormal lens morphology	9742	IFT140	OMIM:266920
HP:0000517	Abnormal lens morphology	9742	IFT140	ORPHA:791
HP:0000517	Abnormal lens morphology	9742	IFT140	ORPHA:65
HP:0000517	Abnormal lens morphology	58497	PRUNE1	OMIM:617481
HP:0000517	Abnormal lens morphology	58497	PRUNE1	ORPHA:544469
HP:0000517	Abnormal lens morphology	3980	LIG3	OMIM:619780
HP:0000517	Abnormal lens morphology	26173	INTS1	OMIM:618571
HP:0000517	Abnormal lens morphology	84695	LOXL3	OMIM:619781
HP:0000517	Abnormal lens morphology	84695	LOXL3	ORPHA:250984
HP:0000517	Abnormal lens morphology	22930	RAB3GAP1	OMIM:619420
HP:0000517	Abnormal lens morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000517	Abnormal lens morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000517	Abnormal lens morphology	84188	FAR1	OMIM:616154
HP:0000517	Abnormal lens morphology	84188	FAR1	OMIM:619338
HP:0000517	Abnormal lens morphology	3000	GUCY2D	OMIM:204000
HP:0000517	Abnormal lens morphology	3000	GUCY2D	ORPHA:65
HP:0000517	Abnormal lens morphology	29968	PSAT1	OMIM:616038
HP:0000517	Abnormal lens morphology	27429	HTRA2	OMIM:617248
HP:0000517	Abnormal lens morphology	389827	MYMK	OMIM:254940
HP:0000517	Abnormal lens morphology	149233	IL23R	ORPHA:117
HP:0000517	Abnormal lens morphology	6775	STAT4	ORPHA:117
HP:0000517	Abnormal lens morphology	6775	STAT4	ORPHA:85410
HP:0000517	Abnormal lens morphology	3586	IL10	ORPHA:117
HP:0000517	Abnormal lens morphology	4210	MEFV	ORPHA:117
HP:0000517	Abnormal lens morphology	1230	CCR1	ORPHA:117
HP:0000517	Abnormal lens morphology	355	FAS	ORPHA:117
HP:0000517	Abnormal lens morphology	355	FAS	ORPHA:3437
HP:0000517	Abnormal lens morphology	3592	IL12A	ORPHA:117
HP:0000517	Abnormal lens morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000517	Abnormal lens morphology	3106	HLA-B	ORPHA:117
HP:0000517	Abnormal lens morphology	7099	TLR4	ORPHA:117
HP:0000517	Abnormal lens morphology	3459	IFNGR1	ORPHA:117
HP:0000517	Abnormal lens morphology	720	C4A	ORPHA:117
HP:0000517	Abnormal lens morphology	337867	UBAC2	ORPHA:117
HP:0000517	Abnormal lens morphology	51752	ERAP1	ORPHA:117
HP:0000517	Abnormal lens morphology	8302	KLRC4	ORPHA:117
HP:0000517	Abnormal lens morphology	9949	AMMECR1	OMIM:300990
HP:0000517	Abnormal lens morphology	291	SLC25A4	ORPHA:254892
HP:0000517	Abnormal lens morphology	291	SLC25A4	ORPHA:1369
HP:0000517	Abnormal lens morphology	291	SLC25A4	OMIM:615418
HP:0000517	Abnormal lens morphology	5428	POLG	ORPHA:254892
HP:0000517	Abnormal lens morphology	5428	POLG	OMIM:157640
HP:0000517	Abnormal lens morphology	5428	POLG	OMIM:607459
HP:0000517	Abnormal lens morphology	5428	POLG	ORPHA:70595
HP:0000517	Abnormal lens morphology	56652	TWNK	ORPHA:254892
HP:0000517	Abnormal lens morphology	56652	TWNK	OMIM:609286
HP:0000517	Abnormal lens morphology	56652	TWNK	OMIM:607459
HP:0000517	Abnormal lens morphology	56652	TWNK	ORPHA:70595
HP:0000517	Abnormal lens morphology	11232	POLG2	ORPHA:254892
HP:0000517	Abnormal lens morphology	50484	RRM2B	ORPHA:254892
HP:0000517	Abnormal lens morphology	50484	RRM2B	OMIM:268315
HP:0000517	Abnormal lens morphology	9361	LONP1	OMIM:600373
HP:0000517	Abnormal lens morphology	9361	LONP1	ORPHA:1458
HP:0000517	Abnormal lens morphology	3912	LAMB1	OMIM:615191
HP:0000517	Abnormal lens morphology	8504	PEX3	OMIM:617370
HP:0000517	Abnormal lens morphology	8504	PEX3	ORPHA:772
HP:0000517	Abnormal lens morphology	8504	PEX3	ORPHA:44
HP:0000517	Abnormal lens morphology	8504	PEX3	OMIM:614882
HP:0000517	Abnormal lens morphology	8504	PEX3	ORPHA:912
HP:0000517	Abnormal lens morphology	6247	RS1	ORPHA:792
HP:0000517	Abnormal lens morphology	92840	REEP6	ORPHA:791
HP:0000517	Abnormal lens morphology	6094	ROM1	ORPHA:791
HP:0000517	Abnormal lens morphology	6017	RLBP1	ORPHA:791
HP:0000517	Abnormal lens morphology	7401	CLRN1	ORPHA:791
HP:0000517	Abnormal lens morphology	7401	CLRN1	ORPHA:231183
HP:0000517	Abnormal lens morphology	24	ABCA4	ORPHA:791
HP:0000517	Abnormal lens morphology	130557	ZNF513	ORPHA:791
HP:0000517	Abnormal lens morphology	92211	CDHR1	ORPHA:791
HP:0000517	Abnormal lens morphology	23568	ARL2BP	ORPHA:791
HP:0000517	Abnormal lens morphology	54806	AHI1	ORPHA:791
HP:0000517	Abnormal lens morphology	6101	RP1	ORPHA:791
HP:0000517	Abnormal lens morphology	3419	IDH3A	ORPHA:791
HP:0000517	Abnormal lens morphology	4751	NEK2	ORPHA:791
HP:0000517	Abnormal lens morphology	346007	EYS	ORPHA:791
HP:0000517	Abnormal lens morphology	8100	IFT88	ORPHA:791
HP:0000517	Abnormal lens morphology	23020	SNRNP200	ORPHA:791
HP:0000517	Abnormal lens morphology	762	CA4	ORPHA:791
HP:0000517	Abnormal lens morphology	138050	HGSNAT	ORPHA:791
HP:0000517	Abnormal lens morphology	196	AHR	ORPHA:791
HP:0000517	Abnormal lens morphology	3614	IMPDH1	ORPHA:791
HP:0000517	Abnormal lens morphology	3614	IMPDH1	ORPHA:65
HP:0000517	Abnormal lens morphology	123016	TTC8	ORPHA:791
HP:0000517	Abnormal lens morphology	6103	RPGR	ORPHA:791
HP:0000517	Abnormal lens morphology	1406	CRX	ORPHA:791
HP:0000517	Abnormal lens morphology	1406	CRX	OMIM:613829
HP:0000517	Abnormal lens morphology	1406	CRX	ORPHA:65
HP:0000517	Abnormal lens morphology	5148	PDE6G	ORPHA:791
HP:0000517	Abnormal lens morphology	26160	IFT172	ORPHA:791
HP:0000517	Abnormal lens morphology	26121	PRPF31	ORPHA:791
HP:0000517	Abnormal lens morphology	583	BBS2	ORPHA:791
HP:0000517	Abnormal lens morphology	4117	MAK	ORPHA:791
HP:0000517	Abnormal lens morphology	25794	FSCN2	ORPHA:791
HP:0000517	Abnormal lens morphology	375298	CERKL	ORPHA:791
HP:0000517	Abnormal lens morphology	3420	IDH3B	ORPHA:791
HP:0000517	Abnormal lens morphology	57670	KIAA1549	ORPHA:791
HP:0000517	Abnormal lens morphology	7275	TUB	ORPHA:791
HP:0000517	Abnormal lens morphology	24148	PRPF6	ORPHA:791
HP:0000517	Abnormal lens morphology	23418	CRB1	ORPHA:791
HP:0000517	Abnormal lens morphology	23418	CRB1	OMIM:613835
HP:0000517	Abnormal lens morphology	23418	CRB1	ORPHA:65
HP:0000517	Abnormal lens morphology	10461	MERTK	ORPHA:791
HP:0000517	Abnormal lens morphology	57709	SLC7A14	ORPHA:791
HP:0000517	Abnormal lens morphology	768206	PRCD	ORPHA:791
HP:0000517	Abnormal lens morphology	7399	USH2A	ORPHA:791
HP:0000517	Abnormal lens morphology	7399	USH2A	ORPHA:231178
HP:0000517	Abnormal lens morphology	23370	ARHGEF18	ORPHA:791
HP:0000517	Abnormal lens morphology	5949	RBP3	ORPHA:791
HP:0000517	Abnormal lens morphology	6010	RHO	ORPHA:791
HP:0000517	Abnormal lens morphology	6010	RHO	OMIM:613731
HP:0000517	Abnormal lens morphology	10002	NR2E3	ORPHA:791
HP:0000517	Abnormal lens morphology	10002	NR2E3	OMIM:268100
HP:0000517	Abnormal lens morphology	9227	LRAT	ORPHA:791
HP:0000517	Abnormal lens morphology	9227	LRAT	ORPHA:65
HP:0000517	Abnormal lens morphology	84140	FAM161A	ORPHA:791
HP:0000517	Abnormal lens morphology	55812	SPATA7	ORPHA:791
HP:0000517	Abnormal lens morphology	55812	SPATA7	ORPHA:65
HP:0000517	Abnormal lens morphology	403	ARL3	ORPHA:791
HP:0000517	Abnormal lens morphology	5145	PDE6A	ORPHA:791
HP:0000517	Abnormal lens morphology	10210	TOPORS	ORPHA:791
HP:0000517	Abnormal lens morphology	8842	PROM1	ORPHA:791
HP:0000517	Abnormal lens morphology	9128	PRPF4	ORPHA:791
HP:0000517	Abnormal lens morphology	145226	RDH12	ORPHA:791
HP:0000517	Abnormal lens morphology	145226	RDH12	ORPHA:65
HP:0000517	Abnormal lens morphology	50939	IMPG2	ORPHA:791
HP:0000517	Abnormal lens morphology	8481	OFD1	ORPHA:791
HP:0000517	Abnormal lens morphology	49855	SCAPER	ORPHA:791
HP:0000517	Abnormal lens morphology	2979	GUCA1B	ORPHA:791
HP:0000517	Abnormal lens morphology	1259	CNGA1	ORPHA:791
HP:0000517	Abnormal lens morphology	1258	CNGB1	ORPHA:791
HP:0000517	Abnormal lens morphology	60509	AGBL5	ORPHA:791
HP:0000517	Abnormal lens morphology	5961	PRPH2	ORPHA:791
HP:0000517	Abnormal lens morphology	388939	PCARE	ORPHA:791
HP:0000517	Abnormal lens morphology	7439	BEST1	ORPHA:791
HP:0000517	Abnormal lens morphology	9785	DHX38	ORPHA:791
HP:0000517	Abnormal lens morphology	9785	DHX38	OMIM:618220
HP:0000517	Abnormal lens morphology	7287	TULP1	ORPHA:791
HP:0000517	Abnormal lens morphology	7287	TULP1	ORPHA:65
HP:0000517	Abnormal lens morphology	5995	RGR	ORPHA:791
HP:0000517	Abnormal lens morphology	9129	PRPF3	ORPHA:791
HP:0000517	Abnormal lens morphology	55975	KLHL7	ORPHA:791
HP:0000517	Abnormal lens morphology	3617	IMPG1	ORPHA:791
HP:0000517	Abnormal lens morphology	94137	RP1L1	ORPHA:791
HP:0000517	Abnormal lens morphology	5158	PDE6B	ORPHA:791
HP:0000517	Abnormal lens morphology	5158	PDE6B	OMIM:613801
HP:0000517	Abnormal lens morphology	6102	RP2	ORPHA:791
HP:0000517	Abnormal lens morphology	6102	RP2	OMIM:312600
HP:0000517	Abnormal lens morphology	55857	KIZ	ORPHA:791
HP:0000517	Abnormal lens morphology	64218	SEMA4A	ORPHA:791
HP:0000517	Abnormal lens morphology	4901	NRL	ORPHA:791
HP:0000517	Abnormal lens morphology	157657	CFAP418	ORPHA:791
HP:0000517	Abnormal lens morphology	157657	CFAP418	OMIM:614500
HP:0000517	Abnormal lens morphology	10594	PRPF8	ORPHA:791
HP:0000517	Abnormal lens morphology	6295	SAG	ORPHA:791
HP:0000517	Abnormal lens morphology	79947	DHDDS	ORPHA:791
HP:0000517	Abnormal lens morphology	51422	PRKAG2	OMIM:261740
HP:0000517	Abnormal lens morphology	1859	DYRK1A	ORPHA:268261
HP:0000517	Abnormal lens morphology	4598	MVK	ORPHA:29
HP:0000517	Abnormal lens morphology	4598	MVK	OMIM:610377
HP:0000517	Abnormal lens morphology	160418	TMTC3	OMIM:617255
HP:0000517	Abnormal lens morphology	79876	UBA5	OMIM:617133
HP:0000517	Abnormal lens morphology	335	APOA1	OMIM:618463
HP:0000517	Abnormal lens morphology	1798	DPAGT1	OMIM:608093
HP:0000517	Abnormal lens morphology	5309	PITX3	OMIM:610623
HP:0000517	Abnormal lens morphology	8675	STX16	ORPHA:94089
HP:0000517	Abnormal lens morphology	1605	DAG1	ORPHA:370997
HP:0000517	Abnormal lens morphology	1605	DAG1	ORPHA:899
HP:0000517	Abnormal lens morphology	1605	DAG1	OMIM:616538
HP:0000517	Abnormal lens morphology	10733	PLK4	OMIM:616171
HP:0000517	Abnormal lens morphology	1294	COL7A1	OMIM:226600
HP:0000517	Abnormal lens morphology	4312	MMP1	OMIM:226600
HP:0000517	Abnormal lens morphology	54765	TRIM44	OMIM:617142
HP:0000517	Abnormal lens morphology	54765	TRIM44	ORPHA:250923
HP:0000517	Abnormal lens morphology	5053	PAH	OMIM:261600
HP:0000517	Abnormal lens morphology	5053	PAH	ORPHA:79254
HP:0000517	Abnormal lens morphology	2033	EP300	ORPHA:353284
HP:0000517	Abnormal lens morphology	2033	EP300	OMIM:180849
HP:0000517	Abnormal lens morphology	2250	FGF5	OMIM:190330
HP:0000517	Abnormal lens morphology	4041	LRP5	OMIM:259770
HP:0000517	Abnormal lens morphology	4041	LRP5	ORPHA:891
HP:0000517	Abnormal lens morphology	2068	ERCC2	OMIM:610756
HP:0000517	Abnormal lens morphology	2068	ERCC2	OMIM:601675
HP:0000517	Abnormal lens morphology	2068	ERCC2	ORPHA:910
HP:0000517	Abnormal lens morphology	2068	ERCC2	ORPHA:1466
HP:0000517	Abnormal lens morphology	2068	ERCC2	OMIM:278730
HP:0000517	Abnormal lens morphology	1760	DMPK	OMIM:160900
HP:0000517	Abnormal lens morphology	1760	DMPK	ORPHA:589821
HP:0000517	Abnormal lens morphology	4952	OCRL	ORPHA:534
HP:0000517	Abnormal lens morphology	84892	POMGNT2	ORPHA:899
HP:0000517	Abnormal lens morphology	1282	COL4A1	ORPHA:899
HP:0000517	Abnormal lens morphology	729920	CRPPA	ORPHA:899
HP:0000517	Abnormal lens morphology	729920	CRPPA	OMIM:614643
HP:0000517	Abnormal lens morphology	10329	RXYLT1	ORPHA:899
HP:0000517	Abnormal lens morphology	11041	B4GAT1	ORPHA:899
HP:0000517	Abnormal lens morphology	4942	OAT	ORPHA:414
HP:0000517	Abnormal lens morphology	147409	DSG4	ORPHA:573
HP:0000517	Abnormal lens morphology	3892	KRT86	ORPHA:573
HP:0000517	Abnormal lens morphology	3889	KRT83	ORPHA:573
HP:0000517	Abnormal lens morphology	3887	KRT81	ORPHA:573
HP:0000517	Abnormal lens morphology	10059	DNM1L	ORPHA:98673
HP:0000517	Abnormal lens morphology	4976	OPA1	ORPHA:98673
HP:0000517	Abnormal lens morphology	28982	FLVCR1	ORPHA:88628
HP:0000517	Abnormal lens morphology	28982	FLVCR1	OMIM:609033
HP:0000517	Abnormal lens morphology	63925	ZNF335	OMIM:615095
HP:0000517	Abnormal lens morphology	112939	NACC1	OMIM:617393
HP:0000517	Abnormal lens morphology	92255	LMBRD2	OMIM:619694
HP:0000517	Abnormal lens morphology	3756	KCNH1	OMIM:135500
HP:0000517	Abnormal lens morphology	3756	KCNH1	ORPHA:3473
HP:0000517	Abnormal lens morphology	3913	LAMB2	OMIM:609049
HP:0000517	Abnormal lens morphology	1312	COMT	ORPHA:567
HP:0000517	Abnormal lens morphology	221037	JMJD1C	ORPHA:567
HP:0000517	Abnormal lens morphology	2812	GP1BB	ORPHA:567
HP:0000517	Abnormal lens morphology	6239	RREB1	ORPHA:567
HP:0000517	Abnormal lens morphology	6899	TBX1	ORPHA:567
HP:0000517	Abnormal lens morphology	7290	HIRA	ORPHA:567
HP:0000517	Abnormal lens morphology	9632	SEC24C	ORPHA:567
HP:0000517	Abnormal lens morphology	7353	UFD1	ORPHA:567
HP:0000517	Abnormal lens morphology	421	ARVCF	ORPHA:567
HP:0000517	Abnormal lens morphology	55750	AGK	OMIM:212350
HP:0000517	Abnormal lens morphology	55750	AGK	ORPHA:1369
HP:0000517	Abnormal lens morphology	2717	GLA	ORPHA:324
HP:0000517	Abnormal lens morphology	1009	CDH11	OMIM:211380
HP:0000517	Abnormal lens morphology	8260	NAA10	ORPHA:568
HP:0000517	Abnormal lens morphology	10483	SEC23B	ORPHA:201
HP:0000517	Abnormal lens morphology	6390	SDHB	ORPHA:201
HP:0000517	Abnormal lens morphology	6392	SDHD	ORPHA:201
HP:0000517	Abnormal lens morphology	6391	SDHC	ORPHA:201
HP:0000517	Abnormal lens morphology	207	AKT1	ORPHA:201
HP:0000517	Abnormal lens morphology	207	AKT1	ORPHA:744
HP:0000517	Abnormal lens morphology	207	AKT1	OMIM:615109
HP:0000517	Abnormal lens morphology	205717	USF3	ORPHA:201
HP:0000517	Abnormal lens morphology	5290	PIK3CA	ORPHA:201
HP:0000517	Abnormal lens morphology	5290	PIK3CA	OMIM:615108
HP:0000517	Abnormal lens morphology	100144748	KLLN	ORPHA:201
HP:0000517	Abnormal lens morphology	84314	TMEM107	ORPHA:564
HP:0000517	Abnormal lens morphology	26123	TCTN3	ORPHA:564
HP:0000517	Abnormal lens morphology	79867	TCTN2	ORPHA:564
HP:0000517	Abnormal lens morphology	80776	B9D2	ORPHA:564
HP:0000517	Abnormal lens morphology	79600	TCTN1	ORPHA:564
HP:0000517	Abnormal lens morphology	57096	RPGRIP1	ORPHA:564
HP:0000517	Abnormal lens morphology	57096	RPGRIP1	OMIM:613826
HP:0000517	Abnormal lens morphology	57096	RPGRIP1	ORPHA:65
HP:0000517	Abnormal lens morphology	79848	CSPP1	ORPHA:564
HP:0000517	Abnormal lens morphology	80184	CEP290	ORPHA:564
HP:0000517	Abnormal lens morphology	80184	CEP290	ORPHA:3156
HP:0000517	Abnormal lens morphology	80184	CEP290	ORPHA:65
HP:0000517	Abnormal lens morphology	51259	TMEM216	ORPHA:564
HP:0000517	Abnormal lens morphology	57545	CC2D2A	ORPHA:564
HP:0000517	Abnormal lens morphology	57545	CC2D2A	OMIM:612285
HP:0000517	Abnormal lens morphology	79583	TMEM231	ORPHA:564
HP:0000517	Abnormal lens morphology	91147	TMEM67	ORPHA:564
HP:0000517	Abnormal lens morphology	79770	TXNDC15	ORPHA:564
HP:0000517	Abnormal lens morphology	27077	B9D1	ORPHA:564
HP:0000517	Abnormal lens morphology	23322	RPGRIP1L	ORPHA:564
HP:0000517	Abnormal lens morphology	54903	MKS1	ORPHA:564
HP:0000517	Abnormal lens morphology	65062	TMEM237	ORPHA:564
HP:0000517	Abnormal lens morphology	2583	B4GALNT1	ORPHA:101006
HP:0000517	Abnormal lens morphology	372	ARCN1	OMIM:617164
HP:0000517	Abnormal lens morphology	11342	RNF13	OMIM:618379
HP:0000517	Abnormal lens morphology	11342	RNF13	ORPHA:544503
HP:0000517	Abnormal lens morphology	2071	ERCC3	OMIM:610651
HP:0000517	Abnormal lens morphology	2071	ERCC3	ORPHA:910
HP:0000517	Abnormal lens morphology	79644	SRD5A3	OMIM:612713
HP:0000517	Abnormal lens morphology	79644	SRD5A3	ORPHA:324737
HP:0000517	Abnormal lens morphology	79644	SRD5A3	OMIM:612379
HP:0000517	Abnormal lens morphology	2707	GJB3	ORPHA:317
HP:0000517	Abnormal lens morphology	2531	KDSR	ORPHA:317
HP:0000517	Abnormal lens morphology	127534	GJB4	ORPHA:317
HP:0000517	Abnormal lens morphology	4990	SIX6	OMIM:206900
HP:0000517	Abnormal lens morphology	4990	SIX6	OMIM:212550
HP:0000517	Abnormal lens morphology	6657	SOX2	OMIM:206900
HP:0000517	Abnormal lens morphology	64374	SIL1	ORPHA:559
HP:0000517	Abnormal lens morphology	51763	INPP5K	ORPHA:559
HP:0000517	Abnormal lens morphology	51763	INPP5K	OMIM:617404
HP:0000517	Abnormal lens morphology	56244	BTNL2	ORPHA:797
HP:0000517	Abnormal lens morphology	3123	HLA-DRB1	ORPHA:797
HP:0000517	Abnormal lens morphology	145173	B3GLCT	OMIM:261540
HP:0000517	Abnormal lens morphology	145173	B3GLCT	ORPHA:709
HP:0000517	Abnormal lens morphology	6711	SPTBN1	OMIM:619475
HP:0000517	Abnormal lens morphology	1286	COL4A4	OMIM:203780
HP:0000517	Abnormal lens morphology	10413	YAP1	OMIM:120433
HP:0000517	Abnormal lens morphology	10413	YAP1	ORPHA:1473
HP:0000517	Abnormal lens morphology	4810	NHS	ORPHA:627
HP:0000517	Abnormal lens morphology	526	ATP6V1B2	ORPHA:79500
HP:0000517	Abnormal lens morphology	526	ATP6V1B2	ORPHA:3473
HP:0000517	Abnormal lens morphology	57465	TBC1D24	ORPHA:79500
HP:0000517	Abnormal lens morphology	57465	TBC1D24	OMIM:220500
HP:0000517	Abnormal lens morphology	1412	CRYBA2	OMIM:115900
HP:0000517	Abnormal lens morphology	8720	MBTPS1	OMIM:618392
HP:0000517	Abnormal lens morphology	25839	COG4	OMIM:618150
HP:0000517	Abnormal lens morphology	25839	COG4	ORPHA:85172
HP:0000517	Abnormal lens morphology	84172	POLR1B	ORPHA:861
HP:0000517	Abnormal lens morphology	9533	POLR1C	ORPHA:861
HP:0000517	Abnormal lens morphology	51082	POLR1D	ORPHA:861
HP:0000517	Abnormal lens morphology	6949	TCOF1	ORPHA:861
HP:0000517	Abnormal lens morphology	8239	USP9X	OMIM:300968
HP:0000517	Abnormal lens morphology	8239	USP9X	ORPHA:480880
HP:0000517	Abnormal lens morphology	57477	SHROOM4	ORPHA:85288
HP:0000517	Abnormal lens morphology	57704	GBA2	ORPHA:320391
HP:0000517	Abnormal lens morphology	57704	GBA2	OMIM:614409
HP:0000517	Abnormal lens morphology	6299	SALL1	ORPHA:857
HP:0000517	Abnormal lens morphology	51339	DACT1	ORPHA:857
HP:0000517	Abnormal lens morphology	3516	RBPJ	ORPHA:974
HP:0000517	Abnormal lens morphology	4851	NOTCH1	ORPHA:974
HP:0000517	Abnormal lens morphology	57514	ARHGAP31	ORPHA:974
HP:0000517	Abnormal lens morphology	57572	DOCK6	ORPHA:974
HP:0000517	Abnormal lens morphology	285203	EOGT	ORPHA:974
HP:0000517	Abnormal lens morphology	54567	DLL4	ORPHA:974
HP:0000517	Abnormal lens morphology	55670	PEX26	ORPHA:772
HP:0000517	Abnormal lens morphology	55670	PEX26	OMIM:614872
HP:0000517	Abnormal lens morphology	55670	PEX26	ORPHA:44
HP:0000517	Abnormal lens morphology	55670	PEX26	ORPHA:912
HP:0000517	Abnormal lens morphology	5824	PEX19	ORPHA:772
HP:0000517	Abnormal lens morphology	5824	PEX19	ORPHA:44
HP:0000517	Abnormal lens morphology	5824	PEX19	ORPHA:912
HP:0000517	Abnormal lens morphology	5828	PEX2	ORPHA:772
HP:0000517	Abnormal lens morphology	5828	PEX2	OMIM:614866
HP:0000517	Abnormal lens morphology	5828	PEX2	ORPHA:44
HP:0000517	Abnormal lens morphology	5828	PEX2	ORPHA:912
HP:0000517	Abnormal lens morphology	9409	PEX16	ORPHA:772
HP:0000517	Abnormal lens morphology	9409	PEX16	OMIM:614877
HP:0000517	Abnormal lens morphology	9409	PEX16	OMIM:614876
HP:0000517	Abnormal lens morphology	9409	PEX16	ORPHA:44
HP:0000517	Abnormal lens morphology	9409	PEX16	ORPHA:912
HP:0000517	Abnormal lens morphology	5190	PEX6	ORPHA:772
HP:0000517	Abnormal lens morphology	5190	PEX6	ORPHA:44
HP:0000517	Abnormal lens morphology	5190	PEX6	ORPHA:912
HP:0000517	Abnormal lens morphology	8799	PEX11B	ORPHA:772
HP:0000517	Abnormal lens morphology	8799	PEX11B	ORPHA:44
HP:0000517	Abnormal lens morphology	8799	PEX11B	ORPHA:912
HP:0000517	Abnormal lens morphology	5193	PEX12	ORPHA:772
HP:0000517	Abnormal lens morphology	5193	PEX12	ORPHA:44
HP:0000517	Abnormal lens morphology	5193	PEX12	ORPHA:912
HP:0000517	Abnormal lens morphology	5194	PEX13	ORPHA:772
HP:0000517	Abnormal lens morphology	5194	PEX13	ORPHA:44
HP:0000517	Abnormal lens morphology	5194	PEX13	OMIM:614885
HP:0000517	Abnormal lens morphology	5194	PEX13	ORPHA:912
HP:0000517	Abnormal lens morphology	5195	PEX14	ORPHA:772
HP:0000517	Abnormal lens morphology	5195	PEX14	ORPHA:44
HP:0000517	Abnormal lens morphology	5195	PEX14	ORPHA:912
HP:0000517	Abnormal lens morphology	5192	PEX10	ORPHA:772
HP:0000517	Abnormal lens morphology	5192	PEX10	ORPHA:44
HP:0000517	Abnormal lens morphology	5192	PEX10	ORPHA:912
HP:0000517	Abnormal lens morphology	627	BDNF	ORPHA:893
HP:0000517	Abnormal lens morphology	5264	PHYH	ORPHA:773
HP:0000517	Abnormal lens morphology	5264	PHYH	OMIM:266500
HP:0000517	Abnormal lens morphology	5191	PEX7	ORPHA:773
HP:0000517	Abnormal lens morphology	5191	PEX7	OMIM:614879
HP:0000517	Abnormal lens morphology	5191	PEX7	OMIM:266500
HP:0000517	Abnormal lens morphology	1499	CTNNB1	ORPHA:891
HP:0000517	Abnormal lens morphology	23554	TSPAN12	ORPHA:891
HP:0000517	Abnormal lens morphology	8322	FZD4	ORPHA:891
HP:0000517	Abnormal lens morphology	8322	FZD4	ORPHA:91495
HP:0000517	Abnormal lens morphology	26137	ZBTB20	ORPHA:3042
HP:0000517	Abnormal lens morphology	10084	PQBP1	OMIM:309500
HP:0000517	Abnormal lens morphology	1315	COPB1	OMIM:619255
HP:0000517	Abnormal lens morphology	284058	KANSL1	OMIM:610443
HP:0000517	Abnormal lens morphology	5557	PRIM1	OMIM:620005
HP:0000517	Abnormal lens morphology	2271	FH	ORPHA:523
HP:0000517	Abnormal lens morphology	5076	PAX2	OMIM:120330
HP:0000517	Abnormal lens morphology	64802	NMNAT1	OMIM:619260
HP:0000517	Abnormal lens morphology	64802	NMNAT1	ORPHA:65
HP:0000517	Abnormal lens morphology	55181	SMG8	OMIM:619268
HP:0000517	Abnormal lens morphology	87178	PNPT1	OMIM:614932
HP:0000517	Abnormal lens morphology	161742	SPRED1	ORPHA:137605
HP:0000517	Abnormal lens morphology	1462	VCAN	OMIM:143200
HP:0000517	Abnormal lens morphology	26146	TRAF3IP1	ORPHA:3156
HP:0000517	Abnormal lens morphology	9657	IQCB1	ORPHA:3156
HP:0000517	Abnormal lens morphology	9657	IQCB1	ORPHA:65
HP:0000517	Abnormal lens morphology	10806	SDCCAG8	ORPHA:3156
HP:0000517	Abnormal lens morphology	27130	INVS	ORPHA:3156
HP:0000517	Abnormal lens morphology	4867	NPHP1	ORPHA:3156
HP:0000517	Abnormal lens morphology	261734	NPHP4	ORPHA:3156
HP:0000517	Abnormal lens morphology	57728	WDR19	ORPHA:3156
HP:0000517	Abnormal lens morphology	57728	WDR19	OMIM:614376
HP:0000517	Abnormal lens morphology	27031	NPHP3	ORPHA:3156
HP:0000517	Abnormal lens morphology	22897	CEP164	ORPHA:3156
HP:0000517	Abnormal lens morphology	9987	HNRNPDL	OMIM:609115
HP:0000517	Abnormal lens morphology	80036	TRPM3	OMIM:620253
HP:0000517	Abnormal lens morphology	6309	SC5D	ORPHA:46059
HP:0000517	Abnormal lens morphology	6309	SC5D	OMIM:607330
HP:0000517	Abnormal lens morphology	3560	IL2RB	ORPHA:85410
HP:0000517	Abnormal lens morphology	79722	ANKRD55	ORPHA:85410
HP:0000517	Abnormal lens morphology	26191	PTPN22	ORPHA:85410
HP:0000517	Abnormal lens morphology	26191	PTPN22	ORPHA:3437
HP:0000517	Abnormal lens morphology	919	CD247	ORPHA:85410
HP:0000517	Abnormal lens morphology	3559	IL2RA	ORPHA:85410
HP:0000517	Abnormal lens morphology	5771	PTPN2	ORPHA:85410
HP:0000517	Abnormal lens morphology	83700	JAM3	OMIM:613730
HP:0000517	Abnormal lens morphology	1593	CYP27A1	OMIM:213700
HP:0000517	Abnormal lens morphology	4758	NEU1	OMIM:256550
HP:0000517	Abnormal lens morphology	4758	NEU1	ORPHA:93399
HP:0000517	Abnormal lens morphology	4758	NEU1	ORPHA:812
HP:0000517	Abnormal lens morphology	4758	NEU1	ORPHA:93400
HP:0000517	Abnormal lens morphology	9839	ZEB2	OMIM:235730
HP:0000517	Abnormal lens morphology	9839	ZEB2	ORPHA:261552
HP:0000517	Abnormal lens morphology	9839	ZEB2	ORPHA:261537
HP:0000517	Abnormal lens morphology	64324	NSD1	ORPHA:821
HP:0000517	Abnormal lens morphology	29072	SETD2	ORPHA:821
HP:0000517	Abnormal lens morphology	29072	SETD2	OMIM:620157
HP:0000517	Abnormal lens morphology	29072	SETD2	OMIM:620155
HP:0000517	Abnormal lens morphology	10297	APC2	ORPHA:821
HP:0000517	Abnormal lens morphology	55112	DYNC2I1	ORPHA:93271
HP:0000517	Abnormal lens morphology	57560	IFT80	ORPHA:93271
HP:0000517	Abnormal lens morphology	57539	WDR35	ORPHA:93271
HP:0000517	Abnormal lens morphology	79659	DYNC2H1	ORPHA:93271
HP:0000517	Abnormal lens morphology	89891	DYNC2I2	ORPHA:93271
HP:0000517	Abnormal lens morphology	9442	MED27	OMIM:619286
HP:0000517	Abnormal lens morphology	23600	AMACR	ORPHA:79095
HP:0000517	Abnormal lens morphology	23600	AMACR	OMIM:614307
HP:0000517	Abnormal lens morphology	56623	INPP5E	ORPHA:75858
HP:0000517	Abnormal lens morphology	56623	INPP5E	OMIM:610156
HP:0000517	Abnormal lens morphology	1717	DHCR7	ORPHA:818
HP:0000517	Abnormal lens morphology	1717	DHCR7	OMIM:270400
HP:0000517	Abnormal lens morphology	25782	RAB3GAP2	OMIM:212720
HP:0000517	Abnormal lens morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000517	Abnormal lens morphology	25782	RAB3GAP2	OMIM:614225
HP:0000517	Abnormal lens morphology	25782	RAB3GAP2	ORPHA:401830
HP:0000517	Abnormal lens morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000517	Abnormal lens morphology	30061	SLC40A1	OMIM:606069
HP:0000517	Abnormal lens morphology	4038	LRP4	ORPHA:3258
HP:0000517	Abnormal lens morphology	324	APC	ORPHA:3258
HP:0000517	Abnormal lens morphology	4072	EPCAM	ORPHA:92050
HP:0000517	Abnormal lens morphology	105371045	PERCC1	ORPHA:92050
HP:0000517	Abnormal lens morphology	1716	DGUOK	ORPHA:329314
HP:0000517	Abnormal lens morphology	284252	KCTD1	ORPHA:2036
HP:0000517	Abnormal lens morphology	284252	KCTD1	OMIM:181270
HP:0000517	Abnormal lens morphology	5015	OTX2	OMIM:610125
HP:0000517	Abnormal lens morphology	7555	CNBP	ORPHA:606
HP:0000517	Abnormal lens morphology	55107	ANO1	OMIM:620045
HP:0000517	Abnormal lens morphology	672	BRCA1	ORPHA:84
HP:0000517	Abnormal lens morphology	10459	MAD2L2	ORPHA:84
HP:0000517	Abnormal lens morphology	7516	XRCC2	ORPHA:84
HP:0000517	Abnormal lens morphology	29089	UBE2T	ORPHA:84
HP:0000517	Abnormal lens morphology	675	BRCA2	ORPHA:84
HP:0000517	Abnormal lens morphology	55120	FANCL	ORPHA:84
HP:0000517	Abnormal lens morphology	2177	FANCD2	ORPHA:84
HP:0000517	Abnormal lens morphology	2175	FANCA	ORPHA:84
HP:0000517	Abnormal lens morphology	2187	FANCB	ORPHA:84
HP:0000517	Abnormal lens morphology	2176	FANCC	ORPHA:84
HP:0000517	Abnormal lens morphology	2178	FANCE	ORPHA:84
HP:0000517	Abnormal lens morphology	2188	FANCF	ORPHA:84
HP:0000517	Abnormal lens morphology	2189	FANCG	ORPHA:84
HP:0000517	Abnormal lens morphology	5888	RAD51	ORPHA:84
HP:0000517	Abnormal lens morphology	5889	RAD51C	ORPHA:84
HP:0000517	Abnormal lens morphology	55159	RFWD3	ORPHA:84
HP:0000517	Abnormal lens morphology	83990	BRIP1	ORPHA:84
HP:0000517	Abnormal lens morphology	57697	FANCM	ORPHA:84
HP:0000517	Abnormal lens morphology	79728	PALB2	ORPHA:84
HP:0000517	Abnormal lens morphology	84464	SLX4	ORPHA:84
HP:0000517	Abnormal lens morphology	55215	FANCI	ORPHA:84
HP:0000517	Abnormal lens morphology	7466	WFS1	OMIM:222300
HP:0000517	Abnormal lens morphology	55697	VAC14	ORPHA:3472
HP:0000517	Abnormal lens morphology	9184	BUB3	ORPHA:1052
HP:0000517	Abnormal lens morphology	699	BUB1	ORPHA:1052
HP:0000517	Abnormal lens morphology	9702	CEP57	ORPHA:1052
HP:0000517	Abnormal lens morphology	9319	TRIP13	ORPHA:1052
HP:0000517	Abnormal lens morphology	701	BUB1B	ORPHA:1052
HP:0000517	Abnormal lens morphology	701	BUB1B	OMIM:257300
HP:0000517	Abnormal lens morphology	26090	ABHD12	OMIM:612674
HP:0000517	Abnormal lens morphology	60	ACTB	OMIM:607371
HP:0000517	Abnormal lens morphology	60	ACTB	ORPHA:79107
HP:0000517	Abnormal lens morphology	2301	FOXE3	OMIM:610256
HP:0000517	Abnormal lens morphology	55636	CHD7	OMIM:214800
HP:0000517	Abnormal lens morphology	57167	SALL4	ORPHA:959
HP:0000517	Abnormal lens morphology	57167	SALL4	OMIM:607323
HP:0000517	Abnormal lens morphology	23424	TDRD7	OMIM:613887
HP:0000517	Abnormal lens morphology	25942	SIN3A	OMIM:613406
HP:0000517	Abnormal lens morphology	3782	KCNN3	ORPHA:3473
HP:0000517	Abnormal lens morphology	4853	NOTCH2	ORPHA:955
HP:0000517	Abnormal lens morphology	374393	FAM111B	OMIM:615704
HP:0000517	Abnormal lens morphology	1174	AP1S1	OMIM:609313
HP:0000517	Abnormal lens morphology	26227	PHGDH	OMIM:256520
HP:0000517	Abnormal lens morphology	7840	ALMS1	ORPHA:64
HP:0000517	Abnormal lens morphology	343035	RD3	ORPHA:65
HP:0000517	Abnormal lens morphology	10383	TUBB4B	ORPHA:65
HP:0000517	Abnormal lens morphology	85015	USP45	ORPHA:65
HP:0000517	Abnormal lens morphology	392255	GDF6	ORPHA:65
HP:0000517	Abnormal lens morphology	23746	AIPL1	ORPHA:65
HP:0000517	Abnormal lens morphology	167691	LCA5	ORPHA:65
HP:0000517	Abnormal lens morphology	91754	NEK9	ORPHA:64754
HP:0000517	Abnormal lens morphology	10908	PNPLA6	ORPHA:2377
HP:0000517	Abnormal lens morphology	6804	STX1A	ORPHA:904
HP:0000517	Abnormal lens morphology	7461	CLIP2	ORPHA:904
HP:0000517	Abnormal lens morphology	84277	DNAJC30	ORPHA:904
HP:0000517	Abnormal lens morphology	8468	FKBP6	ORPHA:904
HP:0000517	Abnormal lens morphology	5982	RFC2	ORPHA:904
HP:0000517	Abnormal lens morphology	2969	GTF2I	ORPHA:904
HP:0000517	Abnormal lens morphology	3984	LIMK1	ORPHA:904
HP:0000517	Abnormal lens morphology	9569	GTF2IRD1	ORPHA:904
HP:0000517	Abnormal lens morphology	155382	VPS37D	ORPHA:904
HP:0000517	Abnormal lens morphology	155368	METTL27	ORPHA:904
HP:0000517	Abnormal lens morphology	114049	BUD23	ORPHA:904
HP:0000517	Abnormal lens morphology	7458	EIF4H	ORPHA:904
HP:0000517	Abnormal lens morphology	84163	GTF2IRD2	ORPHA:904
HP:0000517	Abnormal lens morphology	9275	BCL7B	ORPHA:904
HP:0000517	Abnormal lens morphology	26608	TBL2	ORPHA:904
HP:0000517	Abnormal lens morphology	653361	NCF1	ORPHA:904
HP:0000517	Abnormal lens morphology	135886	TMEM270	ORPHA:904
HP:0000517	Abnormal lens morphology	51085	MLXIPL	ORPHA:904
HP:0000517	Abnormal lens morphology	9031	BAZ1B	ORPHA:904
HP:0000517	Abnormal lens morphology	2006	ELN	ORPHA:904
HP:0000517	Abnormal lens morphology	2073	ERCC5	OMIM:278780
HP:0000517	Abnormal lens morphology	2073	ERCC5	ORPHA:910
HP:0000517	Abnormal lens morphology	2073	ERCC5	ORPHA:1466
HP:0000517	Abnormal lens morphology	11128	POLR3A	OMIM:264090
HP:0000517	Abnormal lens morphology	11128	POLR3A	ORPHA:3455
HP:0000517	Abnormal lens morphology	157570	ESCO2	ORPHA:3103
HP:0000517	Abnormal lens morphology	157570	ESCO2	OMIM:268300
HP:0000517	Abnormal lens morphology	55719	SLF2	OMIM:620184
HP:0000517	Abnormal lens morphology	4036	LRP2	OMIM:222448
HP:0000517	Abnormal lens morphology	402	ARL2	OMIM:619082
HP:0000517	Abnormal lens morphology	4094	MAF	ORPHA:1272
HP:0000517	Abnormal lens morphology	4094	MAF	ORPHA:1377
HP:0000517	Abnormal lens morphology	4089	SMAD4	OMIM:139210
HP:0000517	Abnormal lens morphology	4089	SMAD4	ORPHA:2588
HP:0000517	Abnormal lens morphology	2934	GSN	ORPHA:85448
HP:0000517	Abnormal lens morphology	81887	LAS1L	ORPHA:3459
HP:0000517	Abnormal lens morphology	55869	HDAC8	ORPHA:3459
HP:0000517	Abnormal lens morphology	55869	HDAC8	ORPHA:199
HP:0000517	Abnormal lens morphology	182	JAG1	OMIM:118450
HP:0000517	Abnormal lens morphology	5336	PLCG2	OMIM:614878
HP:0000517	Abnormal lens morphology	10165	SLC25A13	ORPHA:247598
HP:0000517	Abnormal lens morphology	3178	HNRNPA1	ORPHA:52430
HP:0000517	Abnormal lens morphology	7415	VCP	ORPHA:52430
HP:0000517	Abnormal lens morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0000517	Abnormal lens morphology	7837	PXDN	OMIM:269400
HP:0000517	Abnormal lens morphology	55129	ANO10	ORPHA:284289
HP:0000517	Abnormal lens morphology	5295	PIK3R1	OMIM:269880
HP:0000517	Abnormal lens morphology	8573	CASK	ORPHA:163937
HP:0000517	Abnormal lens morphology	4053	LTBP2	ORPHA:3449
HP:0000517	Abnormal lens morphology	4088	SMAD3	OMIM:613795
HP:0000517	Abnormal lens morphology	50628	GEMIN4	OMIM:617913
HP:0000517	Abnormal lens morphology	2961	GTF2E2	OMIM:616943
HP:0000517	Abnormal lens morphology	81846	SBF2	ORPHA:99956
HP:0000517	Abnormal lens morphology	3954	LETM1	OMIM:620089
HP:0000517	Abnormal lens morphology	3166	HMX1	OMIM:612109
HP:0000517	Abnormal lens morphology	2702	GJA5	OMIM:612474
HP:0000517	Abnormal lens morphology	2703	GJA8	OMIM:612474
HP:0000517	Abnormal lens morphology	2703	GJA8	ORPHA:1377
HP:0000517	Abnormal lens morphology	1413	CRYBA4	ORPHA:1377
HP:0000517	Abnormal lens morphology	1415	CRYBB2	ORPHA:1377
HP:0000517	Abnormal lens morphology	1414	CRYBB1	ORPHA:1377
HP:0000517	Abnormal lens morphology	1421	CRYGD	ORPHA:1377
HP:0000517	Abnormal lens morphology	1297	COL9A1	ORPHA:250984
HP:0000517	Abnormal lens morphology	1299	COL9A3	ORPHA:250984
HP:0000517	Abnormal lens morphology	27241	BBS9	OMIM:615986
HP:0000517	Abnormal lens morphology	7507	XPA	ORPHA:910
HP:0000517	Abnormal lens morphology	7508	XPC	ORPHA:910
HP:0000517	Abnormal lens morphology	1643	DDB2	ORPHA:910
HP:0000517	Abnormal lens morphology	1288	COL4A6	ORPHA:1018
HP:0000517	Abnormal lens morphology	1287	COL4A5	ORPHA:1018
HP:0000517	Abnormal lens morphology	9158	FIBP	ORPHA:500095
HP:0000517	Abnormal lens morphology	9420	CYP7B1	ORPHA:100986
HP:0000517	Abnormal lens morphology	9420	CYP7B1	OMIM:270800
HP:0000517	Abnormal lens morphology	92482	BBIP1	OMIM:615995
HP:0000517	Abnormal lens morphology	2584	GALK1	OMIM:230200
HP:0000517	Abnormal lens morphology	2584	GALK1	ORPHA:79237
HP:0000517	Abnormal lens morphology	10586	MAB21L2	OMIM:615877
HP:0000517	Abnormal lens morphology	7473	WNT3	ORPHA:3301
HP:0000517	Abnormal lens morphology	7473	WNT3	OMIM:273395
HP:0000517	Abnormal lens morphology	340419	RSPO2	ORPHA:3301
HP:0000517	Abnormal lens morphology	26007	TKFC	ORPHA:1369
HP:0000517	Abnormal lens morphology	26007	TKFC	OMIM:618805
HP:0000517	Abnormal lens morphology	4010	LMX1B	OMIM:161200
HP:0000517	Abnormal lens morphology	83552	MFRP	OMIM:611040
HP:0000517	Abnormal lens morphology	84162	BLTP1	OMIM:617822
HP:0000517	Abnormal lens morphology	3313	HSPA9	OMIM:616854
HP:0000517	Abnormal lens morphology	22880	MORC2	ORPHA:466768
HP:0000517	Abnormal lens morphology	5831	PYCR1	OMIM:614438
HP:0000517	Abnormal lens morphology	387700	SLC16A12	OMIM:612018
HP:0000517	Abnormal lens morphology	4000	LMNA	ORPHA:90153
HP:0000517	Abnormal lens morphology	10651	MTX2	ORPHA:90153
HP:0000517	Abnormal lens morphology	8671	SLC4A4	OMIM:604278
HP:0000517	Abnormal lens morphology	7283	TUBG1	OMIM:615412
HP:0000517	Abnormal lens morphology	2067	ERCC1	ORPHA:1466
HP:0000517	Abnormal lens morphology	5925	RB1	ORPHA:1587
HP:0000517	Abnormal lens morphology	2248	FGF3	ORPHA:2791
HP:0000517	Abnormal lens morphology	1063	CENPF	OMIM:243605
HP:0000517	Abnormal lens morphology	10804	GJB6	OMIM:129500
HP:0000517	Abnormal lens morphology	7045	TGFBI	OMIM:121900
HP:0000517	Abnormal lens morphology	5745	PTH1R	ORPHA:50945
HP:0000517	Abnormal lens morphology	338917	VSX2	OMIM:610092
HP:0000517	Abnormal lens morphology	8985	PLOD3	OMIM:612394
HP:0000517	Abnormal lens morphology	175	AGA	OMIM:208400
HP:0000517	Abnormal lens morphology	5062	PAK2	ORPHA:1571
HP:0000517	Abnormal lens morphology	139285	AMER1	ORPHA:2780
HP:0000517	Abnormal lens morphology	2313	FLI1	ORPHA:2308
HP:0000517	Abnormal lens morphology	23476	BRD4	ORPHA:199
HP:0000517	Abnormal lens morphology	9126	SMC3	ORPHA:199
HP:0000517	Abnormal lens morphology	8243	SMC1A	ORPHA:199
HP:0000517	Abnormal lens morphology	25836	NIPBL	ORPHA:199
HP:0000517	Abnormal lens morphology	5885	RAD21	ORPHA:199
HP:0000517	Abnormal lens morphology	79955	PDZD7	ORPHA:231178
HP:0000517	Abnormal lens morphology	4647	MYO7A	ORPHA:231178
HP:0000517	Abnormal lens morphology	4647	MYO7A	ORPHA:231169
HP:0000517	Abnormal lens morphology	25861	WHRN	ORPHA:231178
HP:0000517	Abnormal lens morphology	84059	ADGRV1	ORPHA:231178
HP:0000517	Abnormal lens morphology	6197	RPS6KA3	ORPHA:192
HP:0000517	Abnormal lens morphology	9150	CTDP1	ORPHA:48431
HP:0000517	Abnormal lens morphology	8092	ALX1	ORPHA:306542
HP:0000517	Abnormal lens morphology	2296	FOXC1	ORPHA:250923
HP:0000517	Abnormal lens morphology	22931	RAB18	OMIM:614222
HP:0000517	Abnormal lens morphology	22931	RAB18	ORPHA:2510
HP:0000517	Abnormal lens morphology	4329	ALDH6A1	OMIM:614105
HP:0000517	Abnormal lens morphology	3704	ITPA	OMIM:616647
HP:0000517	Abnormal lens morphology	4796	TONSL	ORPHA:93357
HP:0000517	Abnormal lens morphology	28957	MRPS28	OMIM:618958
HP:0000517	Abnormal lens morphology	3832	KIF11	ORPHA:2526
HP:0000517	Abnormal lens morphology	3832	KIF11	OMIM:152950
HP:0000517	Abnormal lens morphology	54676	GTPBP2	OMIM:617988
HP:0000517	Abnormal lens morphology	100506658	OCLN	OMIM:251290
HP:0000517	Abnormal lens morphology	617	BCS1L	OMIM:124000
HP:0000517	Abnormal lens morphology	22901	ARSG	ORPHA:231183
HP:0000517	Abnormal lens morphology	4575	MT-TS2	ORPHA:231183
HP:0000517	Abnormal lens morphology	3035	HARS1	ORPHA:231183
HP:0000517	Abnormal lens morphology	84131	CEP78	ORPHA:231183
HP:0000517	Abnormal lens morphology	10558	SPTLC1	OMIM:162400
HP:0000517	Abnormal lens morphology	1376	CPT2	OMIM:608836
HP:0000517	Abnormal lens morphology	652	BMP4	ORPHA:139471
HP:0000517	Abnormal lens morphology	7518	XRCC4	OMIM:616541
HP:0000517	Abnormal lens morphology	59341	TRPV4	ORPHA:2635
HP:0000517	Abnormal lens morphology	387	RHOA	OMIM:618727
HP:0000517	Abnormal lens morphology	4668	NAGA	ORPHA:79281
HP:0000517	Abnormal lens morphology	9939	RBM8A	OMIM:274000
HP:0000517	Abnormal lens morphology	1302	COL11A2	ORPHA:1427
HP:0000517	Abnormal lens morphology	128637	TBC1D20	ORPHA:2510
HP:0000517	Abnormal lens morphology	9130	FAM50A	OMIM:300261
HP:0000517	Abnormal lens morphology	64072	CDH23	ORPHA:231169
HP:0000517	Abnormal lens morphology	10083	USH1C	ORPHA:231169
HP:0000517	Abnormal lens morphology	124590	USH1G	ORPHA:231169
HP:0000517	Abnormal lens morphology	83715	ESPN	ORPHA:231169
HP:0000517	Abnormal lens morphology	10518	CIB2	ORPHA:231169
HP:0000517	Abnormal lens morphology	65217	PCDH15	ORPHA:231169
HP:0000517	Abnormal lens morphology	80169	CTC1	ORPHA:1775
HP:0000517	Abnormal lens morphology	26277	TINF2	ORPHA:1775
HP:0000517	Abnormal lens morphology	55651	NHP2	ORPHA:1775
HP:0000517	Abnormal lens morphology	79650	USB1	ORPHA:1775
HP:0000517	Abnormal lens morphology	55135	WRAP53	ORPHA:1775
HP:0000517	Abnormal lens morphology	51750	RTEL1	ORPHA:1775
HP:0000517	Abnormal lens morphology	4869	NPM1	ORPHA:1775
HP:0000517	Abnormal lens morphology	7012	TERC	ORPHA:1775
HP:0000517	Abnormal lens morphology	55505	NOP10	ORPHA:1775
HP:0000517	Abnormal lens morphology	5073	PARN	ORPHA:1775
HP:0000517	Abnormal lens morphology	7015	TERT	ORPHA:1775
HP:0000517	Abnormal lens morphology	7298	TYMS	ORPHA:1775
HP:0000517	Abnormal lens morphology	85378	TUBGCP6	OMIM:251270
HP:0000517	Abnormal lens morphology	523	ATP6V1A	OMIM:617403
HP:0000517	Abnormal lens morphology	27183	VPS4A	OMIM:619273
HP:0000517	Abnormal lens morphology	406987	MIR204	OMIM:616722
HP:0000517	Abnormal lens morphology	55654	TMEM127	OMIM:171300
HP:0000517	Abnormal lens morphology	5979	RET	OMIM:171300
HP:0000517	Abnormal lens morphology	4149	MAX	OMIM:171300
HP:0000517	Abnormal lens morphology	7428	VHL	OMIM:171300
HP:0000517	Abnormal lens morphology	1417	CRYBB3	OMIM:609741
HP:0000517	Abnormal lens morphology	10093	ARPC4	OMIM:620141
HP:0000517	Abnormal lens morphology	23094	SIPA1L3	OMIM:616851
HP:0000517	Abnormal lens morphology	3417	IDH1	ORPHA:99646
HP:0000517	Abnormal lens morphology	4512	MT-CO1	OMIM:540000
HP:0000517	Abnormal lens morphology	4513	MT-CO2	OMIM:540000
HP:0000517	Abnormal lens morphology	4514	MT-CO3	OMIM:540000
HP:0000517	Abnormal lens morphology	4519	MT-CYB	OMIM:540000
HP:0000517	Abnormal lens morphology	4511	MT-TC	OMIM:540000
HP:0000517	Abnormal lens morphology	4574	MT-TS1	OMIM:540000
HP:0000517	Abnormal lens morphology	4558	MT-TF	OMIM:540000
HP:0000517	Abnormal lens morphology	4541	MT-ND6	OMIM:540000
HP:0000517	Abnormal lens morphology	4540	MT-ND5	OMIM:540000
HP:0000517	Abnormal lens morphology	4535	MT-ND1	OMIM:540000
HP:0000517	Abnormal lens morphology	4572	MT-TQ	OMIM:540000
HP:0000517	Abnormal lens morphology	4577	MT-TV	OMIM:540000
HP:0000517	Abnormal lens morphology	4578	MT-TW	OMIM:540000
HP:0000517	Abnormal lens morphology	57589	RIC1	OMIM:618761
HP:0000517	Abnormal lens morphology	23511	NUP188	OMIM:618804
HP:0000517	Abnormal lens morphology	4047	LSS	OMIM:616509
HP:0000517	Abnormal lens morphology	20	ABCA2	OMIM:618808
HP:0000517	Abnormal lens morphology	22872	SEC31A	OMIM:618651
HP:0000517	Abnormal lens morphology	84668	HYCC1	OMIM:610532
HP:0000517	Abnormal lens morphology	84668	HYCC1	ORPHA:85163
HP:0000517	Abnormal lens morphology	1969	EPHA2	OMIM:116600
HP:0000517	Abnormal lens morphology	5702	PSMC3	OMIM:619354
HP:0000517	Abnormal lens morphology	389692	MAFA	OMIM:147630
HP:0000517	Abnormal lens morphology	9894	TELO2	ORPHA:488642
HP:0000517	Abnormal lens morphology	8419	BFSP2	OMIM:611597
HP:0000517	Abnormal lens morphology	84992	PIGY	OMIM:616809
HP:0000517	Abnormal lens morphology	23137	SMC5	OMIM:620185
HP:0000517	Abnormal lens morphology	79813	EHMT1	ORPHA:261652
HP:0000517	Abnormal lens morphology	58508	KMT2C	ORPHA:261652
HP:0000517	Abnormal lens morphology	953	ENTPD1	OMIM:615683
HP:0000517	Abnormal lens morphology	2651	GCNT2	OMIM:116700
HP:0000517	Abnormal lens morphology	3739	KCNA4	OMIM:618284
HP:0000517	Abnormal lens morphology	9197	SLC33A1	OMIM:614482
HP:0000517	Abnormal lens morphology	5286	PIK3C2A	OMIM:618440
HP:0000517	Abnormal lens morphology	5286	PIK3C2A	ORPHA:557003
HP:0000517	Abnormal lens morphology	63901	FAM111A	OMIM:127000
HP:0000517	Abnormal lens morphology	63901	FAM111A	ORPHA:93325
HP:0000517	Abnormal lens morphology	833	CARS1	ORPHA:33364
HP:0000517	Abnormal lens morphology	7737	RNF113A	ORPHA:33364
HP:0000517	Abnormal lens morphology	136647	MPLKIP	ORPHA:33364
HP:0000517	Abnormal lens morphology	6897	TARS1	ORPHA:33364
HP:0000517	Abnormal lens morphology	6135	RPL11	ORPHA:124
HP:0000517	Abnormal lens morphology	6138	RPL15	ORPHA:124
HP:0000517	Abnormal lens morphology	6229	RPS24	ORPHA:124
HP:0000517	Abnormal lens morphology	6125	RPL5	ORPHA:124
HP:0000517	Abnormal lens morphology	6204	RPS10	ORPHA:124
HP:0000517	Abnormal lens morphology	6224	RPS20	ORPHA:124
HP:0000517	Abnormal lens morphology	6165	RPL35A	ORPHA:124
HP:0000517	Abnormal lens morphology	2623	GATA1	ORPHA:124
HP:0000517	Abnormal lens morphology	6223	RPS19	ORPHA:124
HP:0000517	Abnormal lens morphology	6232	RPS27	ORPHA:124
HP:0000517	Abnormal lens morphology	6231	RPS26	ORPHA:124
HP:0000517	Abnormal lens morphology	11224	RPL35	ORPHA:124
HP:0000517	Abnormal lens morphology	6160	RPL31	ORPHA:124
HP:0000517	Abnormal lens morphology	6218	RPS17	ORPHA:124
HP:0000517	Abnormal lens morphology	6201	RPS7	ORPHA:124
HP:0000517	Abnormal lens morphology	6155	RPL27	ORPHA:124
HP:0000517	Abnormal lens morphology	6154	RPL26	ORPHA:124
HP:0000517	Abnormal lens morphology	6210	RPS15A	ORPHA:124
HP:0000517	Abnormal lens morphology	90121	TSR2	ORPHA:124
HP:0000517	Abnormal lens morphology	6141	RPL18	ORPHA:124
HP:0000517	Abnormal lens morphology	6235	RPS29	ORPHA:124
HP:0000517	Abnormal lens morphology	6234	RPS28	ORPHA:124
HP:0000517	Abnormal lens morphology	51816	ADA2	ORPHA:124
HP:0000517	Abnormal lens morphology	7319	UBE2A	ORPHA:163956
HP:0000517	Abnormal lens morphology	6307	MSMO1	OMIM:616834
HP:0000517	Abnormal lens morphology	2108	ETFA	OMIM:231680
HP:0000517	Abnormal lens morphology	2109	ETFB	OMIM:231680
HP:0000517	Abnormal lens morphology	2110	ETFDH	OMIM:231680
HP:0000517	Abnormal lens morphology	64682	ANAPC1	ORPHA:221008
HP:0000517	Abnormal lens morphology	51099	ABHD5	ORPHA:98907
HP:0000517	Abnormal lens morphology	51099	ABHD5	OMIM:275630
HP:0000517	Abnormal lens morphology	1545	CYP1B1	ORPHA:708
HP:0000517	Abnormal lens morphology	5308	PITX2	ORPHA:708
HP:0000517	Abnormal lens morphology	64840	PORCN	OMIM:305600
HP:0000517	Abnormal lens morphology	64840	PORCN	ORPHA:2092
HP:0000517	Abnormal lens morphology	6890	TAP1	OMIM:604571
HP:0000517	Abnormal lens morphology	6891	TAP2	OMIM:604571
HP:0000517	Abnormal lens morphology	6892	TAPBP	OMIM:604571
HP:0000517	Abnormal lens morphology	1289	COL5A1	OMIM:130000
HP:0000517	Abnormal lens morphology	2201	FBN2	OMIM:121050
HP:0000517	Abnormal lens morphology	2201	FBN2	ORPHA:115
HP:0000517	Abnormal lens morphology	7048	TGFBR2	OMIM:610168
HP:0000517	Abnormal lens morphology	10157	AASS	OMIM:238700
HP:0000517	Abnormal lens morphology	6821	SUOX	OMIM:272300
HP:0000517	Abnormal lens morphology	7046	TGFBR1	OMIM:609192
HP:0000517	Abnormal lens morphology	7042	TGFB2	OMIM:614816
HP:0000517	Abnormal lens morphology	9445	ITM2B	OMIM:117300
HP:0000517	Abnormal lens morphology	4204	MECP2	OMIM:300055
HP:0000517	Abnormal lens morphology	23394	ADNP	ORPHA:404448
HP:0000517	Abnormal lens morphology	7053	TGM3	OMIM:617251
HP:0000517	Abnormal lens morphology	221496	LEMD2	OMIM:212500
HP:0000517	Abnormal lens morphology	80781	COL18A1	OMIM:267750
HP:0000517	Abnormal lens morphology	444	ASPH	OMIM:601552
HP:0000517	Abnormal lens morphology	4016	LOXL1	OMIM:177650
HP:0000517	Abnormal lens morphology	26610	ELP4	OMIM:617141
HP:0000517	Abnormal lens morphology	55214	P3H2	OMIM:614292
HP:0000517	Abnormal lens morphology	5130	PCYT1A	ORPHA:85167
HP:0000517	Abnormal lens morphology	91851	CHRDL1	OMIM:309300
HP:0000517	Abnormal lens morphology	875	CBS	OMIM:236200
HP:0000517	Abnormal lens morphology	6297	SALL2	OMIM:216820
HP:0000517	Abnormal lens morphology	1280	COL2A1	ORPHA:93296
HP:0000517	Abnormal lens morphology	9653	HS2ST1	OMIM:619194
HP:0000517	Abnormal lens morphology	3299	HSF4	OMIM:116800
HP:0000517	Abnormal lens morphology	10682	EBP	OMIM:300960
HP:0000517	Abnormal lens morphology	406960	MIR184	OMIM:614303
HP:0000517	Abnormal lens morphology	1285	COL4A3	OMIM:104200
HP:0000517	Abnormal lens morphology	57551	TAOK1	OMIM:619575
HP:0000517	Abnormal lens morphology	1419	CRYGB	OMIM:615188
HP:0000517	Abnormal lens morphology	5959	RDH5	ORPHA:52427
HP:0000517	Abnormal lens morphology	3982	LIM2	OMIM:615277
HP:0000517	Abnormal lens morphology	84265	POLR3GL	OMIM:619234
HP:0000517	Abnormal lens morphology	170692	ADAMTS18	OMIM:615458
HP:0000517	Abnormal lens morphology	146862	UNC45B	OMIM:616279
HP:0000517	Abnormal lens morphology	4627	MYH9	ORPHA:182050
HP:0000517	Abnormal lens morphology	4507	MTAP	OMIM:112250
HP:0000517	Abnormal lens morphology	84816	RTN4IP1	OMIM:616732
HP:0000517	Abnormal lens morphology	10484	SEC23A	OMIM:607812
HP:0000517	Abnormal lens morphology	10484	SEC23A	ORPHA:50814
HP:0000517	Abnormal lens morphology	7431	VIM	OMIM:116300
HP:0000517	Abnormal lens morphology	35	ACADS	OMIM:201470
HP:0000517	Abnormal lens morphology	9401	RECQL4	OMIM:268400
HP:0000517	Abnormal lens morphology	1411	CRYBA1	OMIM:600881
HP:0000517	Abnormal lens morphology	2700	GJA3	OMIM:601885
HP:0000517	Abnormal lens morphology	8443	GNPAT	OMIM:222765
HP:0000517	Abnormal lens morphology	6513	SLC2A1	ORPHA:168577
HP:0000517	Abnormal lens morphology	81570	CLPB	OMIM:616271
HP:0000517	Abnormal lens morphology	8314	BAP1	ORPHA:39044
HP:0000517	Abnormal lens morphology	57105	CYSLTR2	ORPHA:39044
HP:0000517	Abnormal lens morphology	2776	GNAQ	ORPHA:39044
HP:0000517	Abnormal lens morphology	2767	GNA11	ORPHA:39044
HP:0000517	Abnormal lens morphology	23451	SF3B1	ORPHA:39044
HP:0000517	Abnormal lens morphology	1427	CRYGS	OMIM:116100
HP:0000517	Abnormal lens morphology	128866	CHMP4B	OMIM:605387
HP:0000517	Abnormal lens morphology	7490	WT1	OMIM:106210
HP:0000517	Abnormal lens morphology	5080	PAX6	OMIM:106210
HP:0000517	Abnormal lens morphology	80207	OPA3	ORPHA:67036
HP:0000517	Abnormal lens morphology	55229	PANK4	OMIM:619593
HP:0000517	Abnormal lens morphology	1420	CRYGC	OMIM:604307
HP:0000517	Abnormal lens morphology	4337	MOCS1	OMIM:252150
HP:0000517	Abnormal lens morphology	4338	MOCS2	OMIM:252160
HP:0000517	Abnormal lens morphology	113246	C12orf57	OMIM:218340
HP:0000517	Abnormal lens morphology	170691	ADAMTS17	OMIM:613195
HP:0000517	Abnormal lens morphology	631	BFSP1	OMIM:611391
HP:0000517	Abnormal lens morphology	4284	MIP	OMIM:615274
HP:0000517	Abnormal lens morphology	755	CFAP410	OMIM:617547
HP:0000517	Abnormal lens morphology	10216	PRG4	ORPHA:2848
HP:0000517	Abnormal lens morphology	79443	FYCO1	OMIM:610019
HP:0000517	Abnormal lens morphology	4771	NF2	ORPHA:637
HP:0000517	Abnormal lens morphology	4771	NF2	OMIM:101000
HP:0000517	Abnormal lens morphology	23291	FBXW11	OMIM:618914
HP:0200147	Neuronal loss in basal ganglia	9997	SCO2	OMIM:604377
HP:0200147	Neuronal loss in basal ganglia	9997	SCO2	ORPHA:70474
HP:0200147	Neuronal loss in basal ganglia	4137	MAPT	OMIM:601104
HP:0200147	Neuronal loss in basal ganglia	7443	VRK1	OMIM:607596
HP:0200147	Neuronal loss in basal ganglia	3064	HTT	ORPHA:248111
HP:0200147	Neuronal loss in basal ganglia	25915	NDUFAF3	ORPHA:70474
HP:0200147	Neuronal loss in basal ganglia	4714	NDUFB8	ORPHA:70474
HP:0200147	Neuronal loss in basal ganglia	4720	NDUFS2	ORPHA:70474
HP:0200147	Neuronal loss in basal ganglia	6834	SURF1	ORPHA:70474
HP:0200146	Mucoid extracellular matrix accumulation	4629	MYH11	ORPHA:229
HP:0200146	Mucoid extracellular matrix accumulation	4629	MYH11	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	7046	TGFBR1	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	7048	TGFBR2	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4015	LOX	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4087	SMAD2	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	7043	TGFB3	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4088	SMAD3	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	7042	TGFB2	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4089	SMAD4	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	2200	FBN1	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	59	ACTA2	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	5592	PRKG1	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	2301	FOXE3	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4144	MAT2A	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	23493	HEY2	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	8076	MFAP5	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	4638	MYLK	ORPHA:91387
HP:0200146	Mucoid extracellular matrix accumulation	2006	ELN	ORPHA:91387
HP:0200143	Megaloblastic erythroid hyperplasia	2694	CBLIF	OMIM:261000
HP:0200143	Megaloblastic erythroid hyperplasia	54790	TET2	ORPHA:75564
HP:0200143	Megaloblastic erythroid hyperplasia	23451	SF3B1	ORPHA:75564
HP:0200141	Small, conical teeth	23545	ATP6V0A2	ORPHA:2834
HP:0200141	Small, conical teeth	8626	TP63	OMIM:129400
HP:0200141	Small, conical teeth	526	ATP6V1B2	ORPHA:79499
HP:0200149	CSF lymphocytic pleiocytosis	79621	RNASEH2B	ORPHA:51
HP:0200149	CSF lymphocytic pleiocytosis	79621	RNASEH2B	OMIM:610181
HP:0200149	CSF lymphocytic pleiocytosis	103	ADAR	ORPHA:51
HP:0200149	CSF lymphocytic pleiocytosis	100147744	RNU7-1	ORPHA:51
HP:0200149	CSF lymphocytic pleiocytosis	134353	LSM11	ORPHA:51
HP:0200149	CSF lymphocytic pleiocytosis	64135	IFIH1	ORPHA:51
HP:0200149	CSF lymphocytic pleiocytosis	11277	TREX1	OMIM:225750
HP:0200149	CSF lymphocytic pleiocytosis	3661	IRF3	OMIM:616532
HP:0200149	CSF lymphocytic pleiocytosis	10535	RNASEH2A	OMIM:610333
HP:0200149	CSF lymphocytic pleiocytosis	25939	SAMHD1	OMIM:612952
HP:0200149	CSF lymphocytic pleiocytosis	84153	RNASEH2C	OMIM:610329
HP:0200149	CSF lymphocytic pleiocytosis	773	CACNA1A	ORPHA:569
HP:0200149	CSF lymphocytic pleiocytosis	112476	PRRT2	ORPHA:569
HP:0200149	CSF lymphocytic pleiocytosis	6323	SCN1A	ORPHA:569
HP:0200149	CSF lymphocytic pleiocytosis	477	ATP1A2	ORPHA:569
HP:0200149	CSF lymphocytic pleiocytosis	7187	TRAF3	ORPHA:1930
HP:0200149	CSF lymphocytic pleiocytosis	81622	UNC93B1	ORPHA:1930
HP:0200149	CSF lymphocytic pleiocytosis	148022	TICAM1	ORPHA:1930
HP:0200149	CSF lymphocytic pleiocytosis	7098	TLR3	ORPHA:1930
HP:0200149	CSF lymphocytic pleiocytosis	29110	TBK1	ORPHA:1930
HP:0200148	Abnormal liver function tests during pregnancy	5244	ABCB4	OMIM:614972
HP:0200148	Abnormal liver function tests during pregnancy	5205	ATP8B1	OMIM:147480
HP:0010739	Osteopoikilosis	8091	HMGA2	ORPHA:94063
HP:0010739	Osteopoikilosis	23592	LEMD3	ORPHA:94063
HP:0010739	Osteopoikilosis	23592	LEMD3	ORPHA:1879
HP:0010739	Osteopoikilosis	23592	LEMD3	ORPHA:1306
HP:0010739	Osteopoikilosis	23592	LEMD3	OMIM:166700
HP:0010736	Monostotic fibrous dysplasia	2778	GNAS	ORPHA:562
HP:0010730	Double eyebrow	85440	DOCK7	OMIM:615859
HP:0010735	Polyostotic fibrous dysplasia	2778	GNAS	ORPHA:562
HP:0010735	Polyostotic fibrous dysplasia	2778	GNAS	OMIM:174800
HP:0010734	Fibrous dysplasia of the bones	2778	GNAS	ORPHA:562
HP:0010733	Naevus flammeus of the eyelid	1857	DVL3	ORPHA:3107
HP:0010733	Naevus flammeus of the eyelid	7474	WNT5A	ORPHA:3107
HP:0010733	Naevus flammeus of the eyelid	1855	DVL1	ORPHA:3107
HP:0010733	Naevus flammeus of the eyelid	2535	FZD2	ORPHA:3107
HP:0010733	Naevus flammeus of the eyelid	22827	PUF60	ORPHA:508488
HP:0010733	Naevus flammeus of the eyelid	129563	DIS3L2	ORPHA:2849
HP:0010733	Naevus flammeus of the eyelid	171023	ASXL1	ORPHA:97297
HP:0010732	Nodular changes affecting the eyelids	255738	PCSK9	OMIM:603776
HP:0010732	Nodular changes affecting the eyelids	5159	PDGFRB	OMIM:616592
HP:0010732	Nodular changes affecting the eyelids	338	APOB	OMIM:144010
HP:0010732	Nodular changes affecting the eyelids	336	APOA2	OMIM:143890
HP:0010732	Nodular changes affecting the eyelids	2053	EPHX2	OMIM:143890
HP:0010732	Nodular changes affecting the eyelids	10842	PPP1R17	OMIM:143890
HP:0010732	Nodular changes affecting the eyelids	2690	GHR	OMIM:143890
HP:0010732	Nodular changes affecting the eyelids	3949	LDLR	OMIM:143890
HP:0010732	Nodular changes affecting the eyelids	2538	G6PC1	OMIM:232200
HP:0010732	Nodular changes affecting the eyelids	1593	CYP27A1	OMIM:213700
HP:0010732	Nodular changes affecting the eyelids	4023	LPL	OMIM:144250
HP:0010732	Nodular changes affecting the eyelids	7274	TTPA	OMIM:277460
HP:0010732	Nodular changes affecting the eyelids	161742	SPRED1	ORPHA:137605
HP:0010732	Nodular changes affecting the eyelids	2542	SLC37A4	OMIM:232220
HP:0010732	Nodular changes affecting the eyelids	2542	SLC37A4	OMIM:232240
HP:0010732	Nodular changes affecting the eyelids	2542	SLC37A4	ORPHA:79259
HP:0010732	Nodular changes affecting the eyelids	348	APOE	ORPHA:412
HP:0010732	Nodular changes affecting the eyelids	64241	ABCG8	OMIM:210250
HP:0010732	Nodular changes affecting the eyelids	335	APOA1	ORPHA:425
HP:0010732	Nodular changes affecting the eyelids	19	ABCA1	ORPHA:425
HP:0010732	Nodular changes affecting the eyelids	5573	PRKAR1A	ORPHA:1359
HP:0010732	Nodular changes affecting the eyelids	50940	PDE11A	ORPHA:1359
HP:0000520	Proptosis	2137	EXTL3	ORPHA:508533
HP:0000520	Proptosis	50964	SOST	OMIM:269500
HP:0000520	Proptosis	2077	ERF	OMIM:600775
HP:0000520	Proptosis	2077	ERF	ORPHA:207
HP:0000520	Proptosis	2077	ERF	OMIM:617180
HP:0000520	Proptosis	3763	KCNJ6	ORPHA:435628
HP:0000520	Proptosis	3763	KCNJ6	OMIM:614098
HP:0000520	Proptosis	4287	ATXN3	OMIM:109150
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276238
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276244
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276241
HP:0000520	Proptosis	9871	SEC24D	ORPHA:2050
HP:0000520	Proptosis	9871	SEC24D	OMIM:616294
HP:0000520	Proptosis	5034	P4HB	ORPHA:2050
HP:0000520	Proptosis	5034	P4HB	OMIM:112240
HP:0000520	Proptosis	28981	IFT81	OMIM:617895
HP:0000520	Proptosis	673	BRAF	OMIM:115150
HP:0000520	Proptosis	775	CACNA1C	OMIM:620029
HP:0000520	Proptosis	7253	TSHR	ORPHA:99819
HP:0000520	Proptosis	7253	TSHR	ORPHA:424
HP:0000520	Proptosis	7253	TSHR	OMIM:609152
HP:0000520	Proptosis	2261	FGFR3	ORPHA:53271
HP:0000520	Proptosis	2261	FGFR3	ORPHA:93274
HP:0000520	Proptosis	2261	FGFR3	ORPHA:93262
HP:0000520	Proptosis	2261	FGFR3	ORPHA:1860
HP:0000520	Proptosis	2261	FGFR3	ORPHA:35099
HP:0000520	Proptosis	2261	FGFR3	OMIM:612247
HP:0000520	Proptosis	2261	FGFR3	OMIM:602849
HP:0000520	Proptosis	7068	THRB	OMIM:274300
HP:0000520	Proptosis	4125	MAN2B1	ORPHA:309282
HP:0000520	Proptosis	6662	SOX9	ORPHA:140
HP:0000520	Proptosis	80816	ASXL3	OMIM:615485
HP:0000520	Proptosis	2317	FLNB	ORPHA:1190
HP:0000520	Proptosis	2317	FLNB	OMIM:108720
HP:0000520	Proptosis	1855	DVL1	OMIM:616331
HP:0000520	Proptosis	1855	DVL1	ORPHA:3107
HP:0000520	Proptosis	1855	DVL1	OMIM:180700
HP:0000520	Proptosis	79639	TMEM53	OMIM:619727
HP:0000520	Proptosis	5184	PEPD	OMIM:170100
HP:0000520	Proptosis	5184	PEPD	ORPHA:742
HP:0000520	Proptosis	4000	LMNA	OMIM:248370
HP:0000520	Proptosis	4000	LMNA	OMIM:619793
HP:0000520	Proptosis	4000	LMNA	ORPHA:90153
HP:0000520	Proptosis	1717	DHCR7	ORPHA:818
HP:0000520	Proptosis	23384	SPECC1L	ORPHA:1519
HP:0000520	Proptosis	10978	CLP1	OMIM:615803
HP:0000520	Proptosis	10978	CLP1	ORPHA:411493
HP:0000520	Proptosis	9382	COG1	OMIM:611209
HP:0000520	Proptosis	4038	LRP4	ORPHA:3258
HP:0000520	Proptosis	324	APC	ORPHA:3258
HP:0000520	Proptosis	64175	P3H1	OMIM:610915
HP:0000520	Proptosis	2263	FGFR2	ORPHA:87
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93260
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93258
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93259
HP:0000520	Proptosis	2263	FGFR2	OMIM:123790
HP:0000520	Proptosis	2263	FGFR2	OMIM:101200
HP:0000520	Proptosis	2263	FGFR2	OMIM:123500
HP:0000520	Proptosis	2263	FGFR2	OMIM:207410
HP:0000520	Proptosis	2263	FGFR2	ORPHA:207
HP:0000520	Proptosis	2263	FGFR2	ORPHA:1555
HP:0000520	Proptosis	2263	FGFR2	OMIM:123150
HP:0000520	Proptosis	2263	FGFR2	ORPHA:1540
HP:0000520	Proptosis	6452	SH3BP2	OMIM:118400
HP:0000520	Proptosis	6452	SH3BP2	ORPHA:184
HP:0000520	Proptosis	7040	TGFB1	OMIM:131300
HP:0000520	Proptosis	7040	TGFB1	ORPHA:1328
HP:0000520	Proptosis	64359	NXN	OMIM:618529
HP:0000520	Proptosis	64359	NXN	ORPHA:1507
HP:0000520	Proptosis	8792	TNFRSF11A	OMIM:612301
HP:0000520	Proptosis	1009	CDH11	OMIM:619736
HP:0000520	Proptosis	1009	CDH11	ORPHA:1299
HP:0000520	Proptosis	1009	CDH11	OMIM:211380
HP:0000520	Proptosis	4920	ROR2	ORPHA:1507
HP:0000520	Proptosis	4920	ROR2	OMIM:268310
HP:0000520	Proptosis	672	BRCA1	ORPHA:84
HP:0000520	Proptosis	10459	MAD2L2	ORPHA:84
HP:0000520	Proptosis	7516	XRCC2	ORPHA:84
HP:0000520	Proptosis	29089	UBE2T	ORPHA:84
HP:0000520	Proptosis	675	BRCA2	ORPHA:84
HP:0000520	Proptosis	55120	FANCL	ORPHA:84
HP:0000520	Proptosis	2177	FANCD2	ORPHA:84
HP:0000520	Proptosis	2175	FANCA	ORPHA:84
HP:0000520	Proptosis	2187	FANCB	ORPHA:84
HP:0000520	Proptosis	2176	FANCC	ORPHA:84
HP:0000520	Proptosis	2178	FANCE	ORPHA:84
HP:0000520	Proptosis	2188	FANCF	ORPHA:84
HP:0000520	Proptosis	2189	FANCG	ORPHA:84
HP:0000520	Proptosis	5888	RAD51	ORPHA:84
HP:0000520	Proptosis	5889	RAD51C	ORPHA:84
HP:0000520	Proptosis	55159	RFWD3	ORPHA:84
HP:0000520	Proptosis	83990	BRIP1	ORPHA:84
HP:0000520	Proptosis	57697	FANCM	ORPHA:84
HP:0000520	Proptosis	79728	PALB2	ORPHA:84
HP:0000520	Proptosis	84464	SLX4	ORPHA:84
HP:0000520	Proptosis	2072	ERCC4	ORPHA:84
HP:0000520	Proptosis	55215	FANCI	ORPHA:84
HP:0000520	Proptosis	2260	FGFR1	ORPHA:93258
HP:0000520	Proptosis	2260	FGFR1	OMIM:166250
HP:0000520	Proptosis	2260	FGFR1	OMIM:123150
HP:0000520	Proptosis	3339	HSPG2	ORPHA:1865
HP:0000520	Proptosis	4524	MTHFR	ORPHA:563612
HP:0000520	Proptosis	57216	VANGL2	ORPHA:563612
HP:0000520	Proptosis	1281	COL3A1	ORPHA:286
HP:0000520	Proptosis	171023	ASXL1	ORPHA:97297
HP:0000520	Proptosis	171023	ASXL1	OMIM:605039
HP:0000520	Proptosis	9896	FIG4	ORPHA:3472
HP:0000520	Proptosis	9896	FIG4	OMIM:216340
HP:0000520	Proptosis	55697	VAC14	ORPHA:3472
HP:0000520	Proptosis	10815	CPLX1	ORPHA:280
HP:0000520	Proptosis	10815	CPLX1	OMIM:194190
HP:0000520	Proptosis	10815	CPLX1	ORPHA:352582
HP:0000520	Proptosis	54872	PIGG	ORPHA:280
HP:0000520	Proptosis	7469	NELFA	ORPHA:280
HP:0000520	Proptosis	1487	CTBP1	ORPHA:280
HP:0000520	Proptosis	1487	CTBP1	OMIM:194190
HP:0000520	Proptosis	3954	LETM1	ORPHA:280
HP:0000520	Proptosis	3954	LETM1	OMIM:194190
HP:0000520	Proptosis	7468	NSD2	ORPHA:280
HP:0000520	Proptosis	7468	NSD2	OMIM:194190
HP:0000520	Proptosis	5159	PDGFRB	OMIM:616592
HP:0000520	Proptosis	5159	PDGFRB	OMIM:601812
HP:0000520	Proptosis	5424	POLD1	OMIM:615381
HP:0000520	Proptosis	26053	AUTS2	ORPHA:352490
HP:0000520	Proptosis	26053	AUTS2	OMIM:615834
HP:0000520	Proptosis	1301	COL11A1	OMIM:228520
HP:0000520	Proptosis	1301	COL11A1	ORPHA:2021
HP:0000520	Proptosis	1301	COL11A1	ORPHA:440354
HP:0000520	Proptosis	1301	COL11A1	ORPHA:560
HP:0000520	Proptosis	23327	NEDD4L	OMIM:617201
HP:0000520	Proptosis	1280	COL2A1	ORPHA:90653
HP:0000520	Proptosis	1280	COL2A1	ORPHA:485
HP:0000520	Proptosis	1280	COL2A1	ORPHA:93315
HP:0000520	Proptosis	1280	COL2A1	OMIM:156550
HP:0000520	Proptosis	4036	LRP2	ORPHA:2143
HP:0000520	Proptosis	4036	LRP2	OMIM:222448
HP:0000520	Proptosis	1302	COL11A2	ORPHA:2021
HP:0000520	Proptosis	1302	COL11A2	OMIM:215150
HP:0000520	Proptosis	1302	COL11A2	ORPHA:1427
HP:0000520	Proptosis	53834	FGFRL1	OMIM:194190
HP:0000520	Proptosis	2200	FBN1	OMIM:616914
HP:0000520	Proptosis	2200	FBN1	ORPHA:2462
HP:0000520	Proptosis	2313	FLI1	ORPHA:370348
HP:0000520	Proptosis	2296	FOXC1	OMIM:602482
HP:0000520	Proptosis	26227	PHGDH	OMIM:256520
HP:0000520	Proptosis	26154	ABCA12	OMIM:242500
HP:0000520	Proptosis	11285	B4GALT7	OMIM:130070
HP:0000520	Proptosis	5447	POR	OMIM:201750
HP:0000520	Proptosis	5447	POR	OMIM:207410
HP:0000520	Proptosis	4593	MUSK	OMIM:208150
HP:0000520	Proptosis	3590	IL11RA	OMIM:614188
HP:0000520	Proptosis	54914	FOCAD	OMIM:619991
HP:0000520	Proptosis	1593	CYP27A1	ORPHA:909
HP:0000520	Proptosis	1857	DVL3	ORPHA:3107
HP:0000520	Proptosis	1857	DVL3	OMIM:616894
HP:0000520	Proptosis	7474	WNT5A	ORPHA:3107
HP:0000520	Proptosis	7474	WNT5A	OMIM:180700
HP:0000520	Proptosis	2535	FZD2	ORPHA:3107
HP:0000520	Proptosis	27125	AFF4	OMIM:616368
HP:0000520	Proptosis	27125	AFF4	ORPHA:444077
HP:0000520	Proptosis	8314	BAP1	ORPHA:2495
HP:0000520	Proptosis	4771	NF2	ORPHA:2495
HP:0000520	Proptosis	6598	SMARCB1	ORPHA:2495
HP:0000520	Proptosis	5155	PDGFB	ORPHA:2495
HP:0000520	Proptosis	84231	TRAF7	ORPHA:2495
HP:0000520	Proptosis	6608	SMO	ORPHA:2495
HP:0000520	Proptosis	207	AKT1	ORPHA:2495
HP:0000520	Proptosis	207	AKT1	ORPHA:744
HP:0000520	Proptosis	5290	PIK3CA	ORPHA:2495
HP:0000520	Proptosis	7015	TERT	ORPHA:2495
HP:0000520	Proptosis	51684	SUFU	ORPHA:2495
HP:0000520	Proptosis	6605	SMARCE1	ORPHA:2495
HP:0000520	Proptosis	150468	CKAP2L	OMIM:272440
HP:0000520	Proptosis	1493	CTLA4	ORPHA:900
HP:0000520	Proptosis	26191	PTPN22	ORPHA:900
HP:0000520	Proptosis	3115	HLA-DPB1	ORPHA:900
HP:0000520	Proptosis	5657	PRTN3	ORPHA:900
HP:0000520	Proptosis	3113	HLA-DPA1	ORPHA:900
HP:0000520	Proptosis	11128	POLR3A	OMIM:264090
HP:0000520	Proptosis	157570	ESCO2	ORPHA:3103
HP:0000520	Proptosis	157570	ESCO2	OMIM:268300
HP:0000520	Proptosis	79796	ALG9	ORPHA:79328
HP:0000520	Proptosis	79796	ALG9	OMIM:263210
HP:0000520	Proptosis	54928	BPNT2	OMIM:614078
HP:0000520	Proptosis	3845	KRAS	ORPHA:3339
HP:0000520	Proptosis	3845	KRAS	OMIM:600268
HP:0000520	Proptosis	3845	KRAS	ORPHA:648
HP:0000520	Proptosis	2316	FLNA	ORPHA:2484
HP:0000520	Proptosis	2316	FLNA	OMIM:309350
HP:0000520	Proptosis	25973	PARS2	OMIM:618437
HP:0000520	Proptosis	3662	IRF4	ORPHA:3452
HP:0000520	Proptosis	114548	NLRP3	OMIM:607115
HP:0000520	Proptosis	114548	NLRP3	ORPHA:1451
HP:0000520	Proptosis	124583	CANT1	OMIM:251450
HP:0000520	Proptosis	124583	CANT1	ORPHA:1425
HP:0000520	Proptosis	56975	FAM20C	ORPHA:1832
HP:0000520	Proptosis	56975	FAM20C	OMIM:259775
HP:0000520	Proptosis	2626	GATA4	OMIM:187500
HP:0000520	Proptosis	2626	GATA4	ORPHA:3303
HP:0000520	Proptosis	23414	ZFPM2	OMIM:187500
HP:0000520	Proptosis	23414	ZFPM2	ORPHA:3303
HP:0000520	Proptosis	1482	NKX2-5	OMIM:187500
HP:0000520	Proptosis	1482	NKX2-5	ORPHA:3303
HP:0000520	Proptosis	182	JAG1	OMIM:187500
HP:0000520	Proptosis	182	JAG1	ORPHA:3303
HP:0000520	Proptosis	6899	TBX1	OMIM:187500
HP:0000520	Proptosis	6899	TBX1	ORPHA:3303
HP:0000520	Proptosis	2627	GATA6	OMIM:187500
HP:0000520	Proptosis	2627	GATA6	ORPHA:3303
HP:0000520	Proptosis	249	ALPL	OMIM:241510
HP:0000520	Proptosis	23483	TGDS	OMIM:616145
HP:0000520	Proptosis	1028	CDKN1C	OMIM:130650
HP:0000520	Proptosis	10984	KCNQ1OT1	OMIM:130650
HP:0000520	Proptosis	3481	IGF2	OMIM:130650
HP:0000520	Proptosis	3784	KCNQ1	OMIM:130650
HP:0000520	Proptosis	9652	SKIC3	OMIM:222470
HP:0000520	Proptosis	7994	KAT6A	OMIM:616268
HP:0000520	Proptosis	4088	SMAD3	OMIM:613795
HP:0000520	Proptosis	25836	NIPBL	OMIM:122470
HP:0000520	Proptosis	7048	TGFBR2	OMIM:610168
HP:0000520	Proptosis	57465	TBC1D24	ORPHA:352582
HP:0000520	Proptosis	4313	MMP2	OMIM:259600
HP:0000520	Proptosis	28962	OSTM1	OMIM:259720
HP:0000520	Proptosis	4615	MYD88	ORPHA:33226
HP:0000520	Proptosis	91252	SLC39A13	ORPHA:157965
HP:0000520	Proptosis	58497	PRUNE1	OMIM:617481
HP:0000520	Proptosis	5881	RAC3	OMIM:618577
HP:0000520	Proptosis	29968	PSAT1	OMIM:616038
HP:0000520	Proptosis	7046	TGFBR1	OMIM:609192
HP:0000520	Proptosis	6497	SKI	ORPHA:2462
HP:0000520	Proptosis	6497	SKI	OMIM:182212
HP:0000520	Proptosis	8260	NAA10	ORPHA:276432
HP:0000520	Proptosis	8260	NAA10	OMIM:300855
HP:0000520	Proptosis	7291	TWIST1	ORPHA:35099
HP:0000520	Proptosis	6938	TCF12	ORPHA:35099
HP:0000520	Proptosis	7545	ZIC1	ORPHA:35099
HP:0000520	Proptosis	4921	DDR2	OMIM:271665
HP:0000520	Proptosis	9488	PIGB	OMIM:618580
HP:0000520	Proptosis	8925	HERC1	OMIM:617011
HP:0000520	Proptosis	8925	HERC1	ORPHA:457359
HP:0000520	Proptosis	10785	WDR4	OMIM:618346
HP:0000520	Proptosis	56896	DPYSL5	OMIM:619435
HP:0000520	Proptosis	100151683	RNU4ATAC	OMIM:210710
HP:0000520	Proptosis	100151683	RNU4ATAC	ORPHA:2636
HP:0000520	Proptosis	2335	FN1	ORPHA:93315
HP:0000520	Proptosis	2702	GJA5	ORPHA:3303
HP:0000520	Proptosis	137814	NKX2-6	ORPHA:3303
HP:0000520	Proptosis	3791	KDR	ORPHA:3303
HP:0000520	Proptosis	2657	GDF1	ORPHA:3303
HP:0000520	Proptosis	140628	GATA5	ORPHA:3303
HP:0000520	Proptosis	2324	FLT4	ORPHA:3303
HP:0000520	Proptosis	10370	CITED2	ORPHA:3303
HP:0000520	Proptosis	55315	SLC29A3	OMIM:602782
HP:0000520	Proptosis	55315	SLC29A3	ORPHA:168569
HP:0000520	Proptosis	10733	PLK4	OMIM:616171
HP:0000520	Proptosis	5515	PPP2CA	OMIM:618354
HP:0000520	Proptosis	221496	LEMD2	OMIM:619322
HP:0000520	Proptosis	30008	EFEMP2	OMIM:614437
HP:0000520	Proptosis	54820	NDE1	OMIM:605013
HP:0000520	Proptosis	10651	MTX2	ORPHA:90153
HP:0000520	Proptosis	10651	MTX2	OMIM:619127
HP:0000520	Proptosis	10269	ZMPSTE24	ORPHA:90154
HP:0000520	Proptosis	10269	ZMPSTE24	OMIM:608612
HP:0000520	Proptosis	4784	NFIX	OMIM:602535
HP:0000520	Proptosis	4784	NFIX	ORPHA:561
HP:0000520	Proptosis	10735	STAG2	OMIM:301022
HP:0000520	Proptosis	4052	LTBP1	OMIM:619451
HP:0000520	Proptosis	3643	INSR	OMIM:246200
HP:0000520	Proptosis	8120	AP3B2	OMIM:617276
HP:0000520	Proptosis	9401	RECQL4	ORPHA:1225
HP:0000520	Proptosis	64131	XYLT1	OMIM:615777
HP:0000520	Proptosis	64131	XYLT1	ORPHA:370930
HP:0000520	Proptosis	64131	XYLT1	ORPHA:1425
HP:0000520	Proptosis	6469	SHH	OMIM:142945
HP:0000520	Proptosis	1781	DYNC1I2	OMIM:618492
HP:0000520	Proptosis	633	BGN	OMIM:300989
HP:0000520	Proptosis	5745	PTH1R	ORPHA:50945
HP:0000520	Proptosis	5745	PTH1R	OMIM:156400
HP:0000520	Proptosis	4854	NOTCH3	ORPHA:2789
HP:0000520	Proptosis	9419	CRIPT	OMIM:615789
HP:0000520	Proptosis	6638	SNRPN	ORPHA:177907
HP:0000520	Proptosis	4763	NF1	ORPHA:97685
HP:0000520	Proptosis	26040	SETBP1	ORPHA:798
HP:0000520	Proptosis	6611	SMS	ORPHA:3063
HP:0000520	Proptosis	84265	POLR3GL	OMIM:619234
HP:0000520	Proptosis	10526	IPO8	OMIM:619472
HP:0000520	Proptosis	6711	SPTBN1	OMIM:619475
HP:0000520	Proptosis	1387	CREBBP	OMIM:180849
HP:0000520	Proptosis	2033	EP300	OMIM:180849
HP:0000520	Proptosis	23233	EXOC6B	ORPHA:93359
HP:0000520	Proptosis	126792	B3GALT6	ORPHA:93359
HP:0000520	Proptosis	126792	B3GALT6	OMIM:271640
HP:0000520	Proptosis	126792	B3GALT6	ORPHA:536467
HP:0000520	Proptosis	126792	B3GALT6	OMIM:615349
HP:0000520	Proptosis	29957	SLC25A24	OMIM:612289
HP:0000520	Proptosis	91461	PKDCC	OMIM:618821
HP:0000520	Proptosis	2254	FGF9	OMIM:612961
HP:0000520	Proptosis	50937	CDON	OMIM:614226
HP:0000520	Proptosis	25914	RTTN	ORPHA:468631
HP:0000520	Proptosis	8936	WASF1	OMIM:618707
HP:0000520	Proptosis	9935	MAFB	ORPHA:2774
HP:0000520	Proptosis	9935	MAFB	OMIM:166300
HP:0000520	Proptosis	5728	PTEN	ORPHA:744
HP:0000520	Proptosis	25839	COG4	OMIM:618150
HP:0000520	Proptosis	25839	COG4	ORPHA:85172
HP:0000520	Proptosis	6872	TAF1	OMIM:300966
HP:0000520	Proptosis	285590	SH3PXD2B	OMIM:249420
HP:0000520	Proptosis	374879	ZNF699	OMIM:619488
HP:0000520	Proptosis	8318	CDC45	OMIM:617063
HP:0000520	Proptosis	55755	CDK5RAP2	OMIM:604804
HP:0000520	Proptosis	83737	ITCH	OMIM:613385
HP:0000520	Proptosis	83737	ITCH	ORPHA:228426
HP:0000520	Proptosis	1277	COL1A1	ORPHA:1310
HP:0000520	Proptosis	23516	SLC39A14	OMIM:144755
HP:0000520	Proptosis	55252	ASXL2	OMIM:617190
HP:0000520	Proptosis	259266	ASPM	OMIM:608716
HP:0000520	Proptosis	5331	PLCB3	OMIM:618961
HP:0000520	Proptosis	89970	RSPRY1	ORPHA:457395
HP:0000520	Proptosis	10491	CRTAP	OMIM:610682
HP:0000520	Proptosis	8815	BANF1	OMIM:614008
HP:0000520	Proptosis	51594	NBAS	OMIM:614800
HP:0000520	Proptosis	63916	ELMO2	OMIM:606893
HP:0000520	Proptosis	22800	RRAS2	ORPHA:648
HP:0000520	Proptosis	867	CBL	ORPHA:648
HP:0000520	Proptosis	8216	LZTR1	ORPHA:648
HP:0000520	Proptosis	6016	RIT1	ORPHA:648
HP:0000520	Proptosis	6237	RRAS	ORPHA:648
HP:0000520	Proptosis	5894	RAF1	ORPHA:648
HP:0000520	Proptosis	22808	MRAS	ORPHA:648
HP:0000520	Proptosis	200734	SPRED2	ORPHA:648
HP:0000520	Proptosis	4893	NRAS	ORPHA:648
HP:0000520	Proptosis	6654	SOS1	ORPHA:648
HP:0000520	Proptosis	6655	SOS2	ORPHA:648
HP:0000520	Proptosis	5781	PTPN11	ORPHA:648
HP:0000520	Proptosis	5922	RASA2	ORPHA:648
HP:0000520	Proptosis	6496	SIX3	OMIM:157170
HP:0000520	Proptosis	26123	TCTN3	ORPHA:2753
HP:0000520	Proptosis	55790	CSGALNACT1	ORPHA:1425
HP:0000520	Proptosis	1513	CTSK	ORPHA:763
HP:0000520	Proptosis	9469	CHST3	OMIM:245600
HP:0000520	Proptosis	26229	B3GAT3	OMIM:245600
HP:0000520	Proptosis	7043	TGFB3	OMIM:615582
HP:0000520	Proptosis	4654	MYOD1	OMIM:618975
HP:0000520	Proptosis	27445	PCLO	OMIM:608027
HP:0000520	Proptosis	5696	PSMB8	OMIM:256040
HP:0000520	Proptosis	79158	GNPTAB	ORPHA:576
HP:0000520	Proptosis	3190	HNRNPK	OMIM:616580
HP:0000520	Proptosis	3190	HNRNPK	ORPHA:352665
HP:0000520	Proptosis	3190	HNRNPK	ORPHA:453504
HP:0000520	Proptosis	57061	HYMAI	ORPHA:96191
HP:0000520	Proptosis	5325	PLAGL1	ORPHA:96191
HP:0000520	Proptosis	5727	PTCH1	OMIM:610828
HP:0000520	Proptosis	5422	POLA1	OMIM:301030
HP:0000520	Proptosis	3636	INPPL1	OMIM:258480
HP:0000520	Proptosis	4094	MAF	ORPHA:1272
HP:0000520	Proptosis	8985	PLOD3	OMIM:612394
HP:0000520	Proptosis	23729	SHPK	ORPHA:440713
HP:0000520	Proptosis	4286	MITF	OMIM:617306
HP:0000520	Proptosis	25942	SIN3A	OMIM:613406
HP:0000520	Proptosis	871	SERPINH1	OMIM:613848
HP:0000520	Proptosis	81794	ADAMTS10	OMIM:277600
HP:0000632	Lacrimation abnormality	8518	ELP1	OMIM:223900
HP:0000632	Lacrimation abnormality	8518	ELP1	ORPHA:1764
HP:0000632	Lacrimation abnormality	9071	CLDN10	OMIM:617671
HP:0000632	Lacrimation abnormality	29926	GMPPA	OMIM:615510
HP:0000632	Lacrimation abnormality	60684	TRAPPC11	OMIM:615356
HP:0000632	Lacrimation abnormality	9091	PIGQ	OMIM:618548
HP:0000632	Lacrimation abnormality	8086	AAAS	OMIM:231550
HP:0000632	Lacrimation abnormality	6558	SLC12A2	OMIM:619080
HP:0000632	Lacrimation abnormality	8567	MADD	OMIM:619004
HP:0000632	Lacrimation abnormality	8567	MADD	OMIM:619005
HP:0000632	Lacrimation abnormality	5075	PAX1	OMIM:615560
HP:0000632	Lacrimation abnormality	667	DST	OMIM:614653
HP:0000632	Lacrimation abnormality	26040	SETBP1	ORPHA:798
HP:0000632	Lacrimation abnormality	5077	PAX3	ORPHA:894
HP:0000632	Lacrimation abnormality	117581	TWIST2	ORPHA:1807
HP:0000632	Lacrimation abnormality	8626	TP63	ORPHA:1896
HP:0000632	Lacrimation abnormality	85446	ZFHX2	OMIM:147430
HP:0000632	Lacrimation abnormality	6804	STX1A	ORPHA:904
HP:0000632	Lacrimation abnormality	7461	CLIP2	ORPHA:904
HP:0000632	Lacrimation abnormality	84277	DNAJC30	ORPHA:904
HP:0000632	Lacrimation abnormality	8468	FKBP6	ORPHA:904
HP:0000632	Lacrimation abnormality	5982	RFC2	ORPHA:904
HP:0000632	Lacrimation abnormality	2969	GTF2I	ORPHA:904
HP:0000632	Lacrimation abnormality	3984	LIMK1	ORPHA:904
HP:0000632	Lacrimation abnormality	9569	GTF2IRD1	ORPHA:904
HP:0000632	Lacrimation abnormality	155382	VPS37D	ORPHA:904
HP:0000632	Lacrimation abnormality	155368	METTL27	ORPHA:904
HP:0000632	Lacrimation abnormality	114049	BUD23	ORPHA:904
HP:0000632	Lacrimation abnormality	7458	EIF4H	ORPHA:904
HP:0000632	Lacrimation abnormality	84163	GTF2IRD2	ORPHA:904
HP:0000632	Lacrimation abnormality	9275	BCL7B	ORPHA:904
HP:0000632	Lacrimation abnormality	26608	TBL2	ORPHA:904
HP:0000632	Lacrimation abnormality	653361	NCF1	ORPHA:904
HP:0000632	Lacrimation abnormality	135886	TMEM270	ORPHA:904
HP:0000632	Lacrimation abnormality	51085	MLXIPL	ORPHA:904
HP:0000632	Lacrimation abnormality	9031	BAZ1B	ORPHA:904
HP:0000632	Lacrimation abnormality	2006	ELN	ORPHA:904
HP:0000632	Lacrimation abnormality	6335	SCN9A	OMIM:167400
HP:0000632	Lacrimation abnormality	55636	CHD7	ORPHA:138
HP:0000632	Lacrimation abnormality	9723	SEMA3E	ORPHA:138
HP:0000632	Lacrimation abnormality	4952	OCRL	ORPHA:534
HP:0000632	Lacrimation abnormality	6935	ZEB1	ORPHA:98973
HP:0000632	Lacrimation abnormality	30813	VSX1	ORPHA:98973
HP:0000632	Lacrimation abnormality	79977	GRHL2	ORPHA:98973
HP:0000632	Lacrimation abnormality	1296	COL8A2	ORPHA:98973
HP:0000632	Lacrimation abnormality	197131	UBR1	ORPHA:2315
HP:0000632	Lacrimation abnormality	2074	ERCC6	OMIM:133540
HP:0000632	Lacrimation abnormality	2074	ERCC6	ORPHA:90321
HP:0000632	Lacrimation abnormality	162	AP1B1	OMIM:242150
HP:0000632	Lacrimation abnormality	3977	LIFR	OMIM:601559
HP:0000632	Lacrimation abnormality	4137	MAPT	ORPHA:240071
HP:0000632	Lacrimation abnormality	60529	ALX4	OMIM:613451
HP:0000632	Lacrimation abnormality	59335	PRDM12	OMIM:616488
HP:0000632	Lacrimation abnormality	6663	SOX10	ORPHA:163746
HP:0000632	Lacrimation abnormality	6663	SOX10	OMIM:609136
HP:0000632	Lacrimation abnormality	55768	NGLY1	ORPHA:404454
HP:0000632	Lacrimation abnormality	1161	ERCC8	OMIM:216400
HP:0000632	Lacrimation abnormality	1161	ERCC8	ORPHA:90321
HP:0000632	Lacrimation abnormality	668	FOXL2	ORPHA:572333
HP:0000632	Lacrimation abnormality	2072	ERCC4	ORPHA:90321
HP:0000632	Lacrimation abnormality	7298	TYMS	OMIM:620040
HP:0000632	Lacrimation abnormality	3123	HLA-DRB1	OMIM:181000
HP:0000632	Lacrimation abnormality	26277	TINF2	OMIM:613990
HP:0000632	Lacrimation abnormality	64218	SEMA4A	OMIM:610283
HP:0000632	Lacrimation abnormality	55651	NHP2	OMIM:224230
HP:0000632	Lacrimation abnormality	55505	NOP10	OMIM:224230
HP:0000632	Lacrimation abnormality	114548	NLRP3	OMIM:148200
HP:0000632	Lacrimation abnormality	4035	LRP1	OMIM:604093
HP:0000632	Lacrimation abnormality	3850	KRT3	OMIM:618767
HP:0000632	Lacrimation abnormality	1736	DKC1	OMIM:305000
HP:0000632	Lacrimation abnormality	4693	NDP	ORPHA:91495
HP:0000632	Lacrimation abnormality	220202	ATOH7	ORPHA:91495
HP:0000632	Lacrimation abnormality	8322	FZD4	ORPHA:91495
HP:0000632	Lacrimation abnormality	1308	COL17A1	ORPHA:293381
HP:0000632	Lacrimation abnormality	1308	COL17A1	OMIM:122400
HP:0000632	Lacrimation abnormality	6720	SREBF1	OMIM:158310
HP:0000632	Lacrimation abnormality	5073	PARN	OMIM:616353
HP:0000632	Lacrimation abnormality	3859	KRT12	OMIM:122100
HP:0000632	Lacrimation abnormality	58495	OVOL2	OMIM:122000
HP:0000632	Lacrimation abnormality	2263	FGFR2	ORPHA:2363
HP:0000632	Lacrimation abnormality	2261	FGFR3	ORPHA:2363
HP:0000632	Lacrimation abnormality	2255	FGF10	ORPHA:2363
HP:0000632	Lacrimation abnormality	6392	SDHD	ORPHA:100093
HP:0000632	Lacrimation abnormality	23516	SLC39A14	OMIM:144755
HP:0000632	Lacrimation abnormality	3321	IGSF3	OMIM:149700
HP:0000632	Lacrimation abnormality	2138	EYA1	OMIM:113650
HP:0000632	Lacrimation abnormality	6495	SIX1	OMIM:113650
HP:0000522	Alacrima	8518	ELP1	OMIM:223900
HP:0000522	Alacrima	8518	ELP1	ORPHA:1764
HP:0000522	Alacrima	9071	CLDN10	OMIM:617671
HP:0000522	Alacrima	55768	NGLY1	OMIM:615273
HP:0000522	Alacrima	29926	GMPPA	OMIM:615510
HP:0000522	Alacrima	60684	TRAPPC11	OMIM:615356
HP:0000522	Alacrima	2263	FGFR2	OMIM:149730
HP:0000522	Alacrima	9091	PIGQ	OMIM:618548
HP:0000522	Alacrima	8086	AAAS	OMIM:231550
HP:0000522	Alacrima	2255	FGF10	OMIM:620193
HP:0000522	Alacrima	2261	FGFR3	OMIM:620192
HP:0000522	Alacrima	6558	SLC12A2	OMIM:619080
HP:0000522	Alacrima	8567	MADD	OMIM:619004
HP:0000522	Alacrima	8567	MADD	OMIM:619005
HP:0000522	Alacrima	5075	PAX1	OMIM:615560
HP:0000522	Alacrima	667	DST	OMIM:614653
HP:0000522	Alacrima	6663	SOX10	OMIM:609136
HP:0000522	Alacrima	26040	SETBP1	ORPHA:798
HP:0000524	Conjunctival telangiectasia	94	ACVRL1	OMIM:600376
HP:0000524	Conjunctival telangiectasia	94	ACVRL1	ORPHA:774
HP:0000524	Conjunctival telangiectasia	2658	GDF2	ORPHA:774
HP:0000524	Conjunctival telangiectasia	4089	SMAD4	ORPHA:774
HP:0000524	Conjunctival telangiectasia	2022	ENG	ORPHA:774
HP:0000524	Conjunctival telangiectasia	2022	ENG	OMIM:187300
HP:0000524	Conjunctival telangiectasia	3978	LIG1	OMIM:619774
HP:0000524	Conjunctival telangiectasia	23328	SASH1	OMIM:618373
HP:0000524	Conjunctival telangiectasia	4683	NBN	OMIM:251260
HP:0000524	Conjunctival telangiectasia	5648	MASP1	OMIM:257920
HP:0000524	Conjunctival telangiectasia	472	ATM	OMIM:208900
HP:0000524	Conjunctival telangiectasia	23064	SETX	OMIM:606002
HP:0000524	Conjunctival telangiectasia	5190	PEX6	ORPHA:95433
HP:0000524	Conjunctival telangiectasia	165918	RNF168	ORPHA:420741
HP:0000524	Conjunctival telangiectasia	5111	PCNA	OMIM:615919
HP:0000524	Conjunctival telangiectasia	5476	CTSA	OMIM:256540
HP:0000524	Conjunctival telangiectasia	2717	GLA	ORPHA:324
HP:0000524	Conjunctival telangiectasia	2068	ERCC2	ORPHA:910
HP:0000524	Conjunctival telangiectasia	7507	XPA	ORPHA:910
HP:0000524	Conjunctival telangiectasia	2071	ERCC3	ORPHA:910
HP:0000524	Conjunctival telangiectasia	7508	XPC	ORPHA:910
HP:0000524	Conjunctival telangiectasia	1643	DDB2	ORPHA:910
HP:0000524	Conjunctival telangiectasia	2072	ERCC4	ORPHA:910
HP:0000524	Conjunctival telangiectasia	2073	ERCC5	ORPHA:910
HP:0000524	Conjunctival telangiectasia	2776	GNAQ	ORPHA:3205
HP:0000525	Abnormality iris morphology	29925	GMPPB	ORPHA:370959
HP:0000525	Abnormality iris morphology	10716	TBR1	ORPHA:1617
HP:0000525	Abnormality iris morphology	2202	EFEMP1	ORPHA:98977
HP:0000525	Abnormality iris morphology	1545	CYP1B1	ORPHA:98977
HP:0000525	Abnormality iris morphology	7046	TGFBR1	ORPHA:91387
HP:0000525	Abnormality iris morphology	7048	TGFBR2	ORPHA:91387
HP:0000525	Abnormality iris morphology	4015	LOX	ORPHA:91387
HP:0000525	Abnormality iris morphology	4087	SMAD2	ORPHA:91387
HP:0000525	Abnormality iris morphology	7043	TGFB3	ORPHA:91387
HP:0000525	Abnormality iris morphology	4088	SMAD3	ORPHA:91387
HP:0000525	Abnormality iris morphology	7042	TGFB2	ORPHA:91387
HP:0000525	Abnormality iris morphology	4089	SMAD4	ORPHA:91387
HP:0000525	Abnormality iris morphology	5592	PRKG1	ORPHA:91387
HP:0000525	Abnormality iris morphology	2301	FOXE3	ORPHA:91387
HP:0000525	Abnormality iris morphology	4144	MAT2A	ORPHA:91387
HP:0000525	Abnormality iris morphology	23493	HEY2	ORPHA:91387
HP:0000525	Abnormality iris morphology	8076	MFAP5	ORPHA:91387
HP:0000525	Abnormality iris morphology	4638	MYLK	ORPHA:91387
HP:0000525	Abnormality iris morphology	197257	LDHD	OMIM:245450
HP:0000525	Abnormality iris morphology	54765	TRIM44	ORPHA:250923
HP:0000525	Abnormality iris morphology	54765	TRIM44	OMIM:617142
HP:0000525	Abnormality iris morphology	7428	VHL	ORPHA:29072
HP:0000525	Abnormality iris morphology	1743	DLST	ORPHA:29072
HP:0000525	Abnormality iris morphology	4191	MDH2	ORPHA:29072
HP:0000525	Abnormality iris morphology	5979	RET	ORPHA:29072
HP:0000525	Abnormality iris morphology	6389	SDHA	ORPHA:29072
HP:0000525	Abnormality iris morphology	23095	KIF1B	ORPHA:29072
HP:0000525	Abnormality iris morphology	2271	FH	ORPHA:29072
HP:0000525	Abnormality iris morphology	8402	SLC25A11	ORPHA:29072
HP:0000525	Abnormality iris morphology	54949	SDHAF2	ORPHA:29072
HP:0000525	Abnormality iris morphology	55654	TMEM127	ORPHA:29072
HP:0000525	Abnormality iris morphology	4763	NF1	ORPHA:29072
HP:0000525	Abnormality iris morphology	6391	SDHC	ORPHA:29072
HP:0000525	Abnormality iris morphology	6392	SDHD	ORPHA:29072
HP:0000525	Abnormality iris morphology	6390	SDHB	ORPHA:29072
HP:0000525	Abnormality iris morphology	4149	MAX	ORPHA:29072
HP:0000525	Abnormality iris morphology	3708	ITPR1	ORPHA:1065
HP:0000525	Abnormality iris morphology	3708	ITPR1	OMIM:206700
HP:0000525	Abnormality iris morphology	1750	DLX6	ORPHA:2440
HP:0000525	Abnormality iris morphology	7979	SEM1	ORPHA:2440
HP:0000525	Abnormality iris morphology	8945	BTRC	ORPHA:2440
HP:0000525	Abnormality iris morphology	58513	EPS15L1	ORPHA:2440
HP:0000525	Abnormality iris morphology	6468	FBXW4	ORPHA:2440
HP:0000525	Abnormality iris morphology	7480	WNT10B	ORPHA:2440
HP:0000525	Abnormality iris morphology	1749	DLX5	ORPHA:2440
HP:0000525	Abnormality iris morphology	5978	REST	ORPHA:654
HP:0000525	Abnormality iris morphology	129563	DIS3L2	ORPHA:654
HP:0000525	Abnormality iris morphology	9319	TRIP13	ORPHA:654
HP:0000525	Abnormality iris morphology	10155	TRIM28	ORPHA:654
HP:0000525	Abnormality iris morphology	11281	POU6F2	ORPHA:654
HP:0000525	Abnormality iris morphology	2719	GPC3	ORPHA:654
HP:0000525	Abnormality iris morphology	283120	H19	ORPHA:654
HP:0000525	Abnormality iris morphology	63901	FAM111A	OMIM:602361
HP:0000525	Abnormality iris morphology	26277	TINF2	OMIM:268130
HP:0000525	Abnormality iris morphology	2767	GNA11	ORPHA:1556
HP:0000525	Abnormality iris morphology	151188	ARL6IP6	ORPHA:1556
HP:0000525	Abnormality iris morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000525	Abnormality iris morphology	5295	PIK3R1	OMIM:269880
HP:0000525	Abnormality iris morphology	3480	IGF1R	OMIM:270450
HP:0000525	Abnormality iris morphology	3913	LAMB2	OMIM:609049
HP:0000525	Abnormality iris morphology	3476	IGBP1	OMIM:300472
HP:0000525	Abnormality iris morphology	3476	IGBP1	ORPHA:52055
HP:0000525	Abnormality iris morphology	22827	PUF60	ORPHA:508498
HP:0000525	Abnormality iris morphology	1409	CRYAA	OMIM:604219
HP:0000525	Abnormality iris morphology	1409	CRYAA	ORPHA:1377
HP:0000525	Abnormality iris morphology	23394	ADNP	ORPHA:404448
HP:0000525	Abnormality iris morphology	1859	DYRK1A	ORPHA:268261
HP:0000525	Abnormality iris morphology	406987	MIR204	OMIM:616722
HP:0000525	Abnormality iris morphology	3845	KRAS	ORPHA:2612
HP:0000525	Abnormality iris morphology	3845	KRAS	ORPHA:2396
HP:0000525	Abnormality iris morphology	4893	NRAS	ORPHA:2612
HP:0000525	Abnormality iris morphology	2260	FGFR1	OMIM:147950
HP:0000525	Abnormality iris morphology	2260	FGFR1	ORPHA:280200
HP:0000525	Abnormality iris morphology	2260	FGFR1	ORPHA:2396
HP:0000525	Abnormality iris morphology	4919	ROR1	OMIM:617654
HP:0000525	Abnormality iris morphology	145173	B3GLCT	ORPHA:709
HP:0000525	Abnormality iris morphology	145173	B3GLCT	OMIM:261540
HP:0000525	Abnormality iris morphology	7473	WNT3	ORPHA:3301
HP:0000525	Abnormality iris morphology	340419	RSPO2	ORPHA:3301
HP:0000525	Abnormality iris morphology	23126	POGZ	ORPHA:468678
HP:0000525	Abnormality iris morphology	23126	POGZ	OMIM:616364
HP:0000525	Abnormality iris morphology	2316	FLNA	OMIM:300244
HP:0000525	Abnormality iris morphology	2316	FLNA	ORPHA:88630
HP:0000525	Abnormality iris morphology	116931	MED12L	OMIM:618872
HP:0000525	Abnormality iris morphology	26610	ELP4	OMIM:617141
HP:0000525	Abnormality iris morphology	64412	GZF1	OMIM:617662
HP:0000525	Abnormality iris morphology	4867	NPHP1	ORPHA:220497
HP:0000525	Abnormality iris morphology	54806	AHI1	ORPHA:220493
HP:0000525	Abnormality iris morphology	54806	AHI1	ORPHA:475
HP:0000525	Abnormality iris morphology	56623	INPP5E	ORPHA:220493
HP:0000525	Abnormality iris morphology	56623	INPP5E	ORPHA:1454
HP:0000525	Abnormality iris morphology	56623	INPP5E	ORPHA:475
HP:0000525	Abnormality iris morphology	153241	CEP120	ORPHA:220493
HP:0000525	Abnormality iris morphology	153241	CEP120	ORPHA:475
HP:0000525	Abnormality iris morphology	95681	CEP41	ORPHA:220493
HP:0000525	Abnormality iris morphology	95681	CEP41	ORPHA:475
HP:0000525	Abnormality iris morphology	10413	YAP1	ORPHA:1473
HP:0000525	Abnormality iris morphology	10413	YAP1	OMIM:120433
HP:0000525	Abnormality iris morphology	3149	HMGB3	OMIM:300915
HP:0000525	Abnormality iris morphology	1717	DHCR7	ORPHA:818
HP:0000525	Abnormality iris morphology	26128	KIFBP	ORPHA:66629
HP:0000525	Abnormality iris morphology	55636	CHD7	ORPHA:138
HP:0000525	Abnormality iris morphology	55636	CHD7	OMIM:214800
HP:0000525	Abnormality iris morphology	9723	SEMA3E	ORPHA:138
HP:0000525	Abnormality iris morphology	84892	POMGNT2	ORPHA:899
HP:0000525	Abnormality iris morphology	148789	B3GALNT2	ORPHA:899
HP:0000525	Abnormality iris morphology	79147	FKRP	ORPHA:899
HP:0000525	Abnormality iris morphology	9215	LARGE1	ORPHA:899
HP:0000525	Abnormality iris morphology	729920	CRPPA	ORPHA:899
HP:0000525	Abnormality iris morphology	10329	RXYLT1	ORPHA:899
HP:0000525	Abnormality iris morphology	1605	DAG1	ORPHA:899
HP:0000525	Abnormality iris morphology	11041	B4GAT1	ORPHA:899
HP:0000525	Abnormality iris morphology	10585	POMT1	ORPHA:899
HP:0000525	Abnormality iris morphology	84197	POMK	ORPHA:899
HP:0000525	Abnormality iris morphology	2218	FKTN	ORPHA:899
HP:0000525	Abnormality iris morphology	55624	POMGNT1	ORPHA:899
HP:0000525	Abnormality iris morphology	28514	DLL1	ORPHA:280200
HP:0000525	Abnormality iris morphology	2253	FGF8	ORPHA:280200
HP:0000525	Abnormality iris morphology	6496	SIX3	ORPHA:280200
HP:0000525	Abnormality iris morphology	6496	SIX3	OMIM:157170
HP:0000525	Abnormality iris morphology	7050	TGIF1	ORPHA:280200
HP:0000525	Abnormality iris morphology	4838	NODAL	ORPHA:280200
HP:0000525	Abnormality iris morphology	6469	SHH	ORPHA:280200
HP:0000525	Abnormality iris morphology	6469	SHH	OMIM:611638
HP:0000525	Abnormality iris morphology	51684	SUFU	ORPHA:280200
HP:0000525	Abnormality iris morphology	51684	SUFU	ORPHA:475
HP:0000525	Abnormality iris morphology	51684	SUFU	ORPHA:377
HP:0000525	Abnormality iris morphology	7546	ZIC2	ORPHA:280200
HP:0000525	Abnormality iris morphology	2619	GAS1	ORPHA:280200
HP:0000525	Abnormality iris morphology	84976	DISP1	ORPHA:280200
HP:0000525	Abnormality iris morphology	2736	GLI2	ORPHA:280200
HP:0000525	Abnormality iris morphology	8928	FOXH1	ORPHA:280200
HP:0000525	Abnormality iris morphology	5727	PTCH1	ORPHA:280200
HP:0000525	Abnormality iris morphology	5727	PTCH1	OMIM:109400
HP:0000525	Abnormality iris morphology	5727	PTCH1	OMIM:610828
HP:0000525	Abnormality iris morphology	5727	PTCH1	ORPHA:377
HP:0000525	Abnormality iris morphology	50937	CDON	ORPHA:280200
HP:0000525	Abnormality iris morphology	6657	SOX2	ORPHA:77298
HP:0000525	Abnormality iris morphology	473	RERE	ORPHA:494344
HP:0000525	Abnormality iris morphology	54880	BCOR	ORPHA:2712
HP:0000525	Abnormality iris morphology	54880	BCOR	ORPHA:568
HP:0000525	Abnormality iris morphology	54880	BCOR	OMIM:309800
HP:0000525	Abnormality iris morphology	54880	BCOR	OMIM:300166
HP:0000525	Abnormality iris morphology	5925	RB1	ORPHA:1587
HP:0000525	Abnormality iris morphology	4853	NOTCH2	OMIM:102500
HP:0000525	Abnormality iris morphology	4853	NOTCH2	ORPHA:955
HP:0000525	Abnormality iris morphology	2248	FGF3	ORPHA:2791
HP:0000525	Abnormality iris morphology	1063	CENPF	OMIM:243605
HP:0000525	Abnormality iris morphology	2263	FGFR2	ORPHA:207
HP:0000525	Abnormality iris morphology	2077	ERF	ORPHA:207
HP:0000525	Abnormality iris morphology	51524	TMEM138	ORPHA:2318
HP:0000525	Abnormality iris morphology	23090	ZNF423	ORPHA:2318
HP:0000525	Abnormality iris morphology	8260	NAA10	ORPHA:568
HP:0000525	Abnormality iris morphology	8260	NAA10	OMIM:309800
HP:0000525	Abnormality iris morphology	4313	MMP2	ORPHA:371428
HP:0000525	Abnormality iris morphology	4323	MMP14	ORPHA:371428
HP:0000525	Abnormality iris morphology	7020	TFAP2A	OMIM:113620
HP:0000525	Abnormality iris morphology	7020	TFAP2A	ORPHA:1297
HP:0000525	Abnormality iris morphology	54872	PIGG	ORPHA:280
HP:0000525	Abnormality iris morphology	7469	NELFA	ORPHA:280
HP:0000525	Abnormality iris morphology	338917	VSX2	OMIM:610092
HP:0000525	Abnormality iris morphology	55714	TENM3	OMIM:615145
HP:0000525	Abnormality iris morphology	523	ATP6V1A	OMIM:618012
HP:0000525	Abnormality iris morphology	4854	NOTCH3	ORPHA:2789
HP:0000525	Abnormality iris morphology	4591	TRIM37	OMIM:253250
HP:0000525	Abnormality iris morphology	5950	RBP4	OMIM:615147
HP:0000525	Abnormality iris morphology	5950	RBP4	OMIM:616428
HP:0000525	Abnormality iris morphology	4036	LRP2	ORPHA:2143
HP:0000525	Abnormality iris morphology	4036	LRP2	OMIM:222448
HP:0000525	Abnormality iris morphology	79644	SRD5A3	OMIM:612713
HP:0000525	Abnormality iris morphology	6297	SALL2	OMIM:216820
HP:0000525	Abnormality iris morphology	2313	FLI1	ORPHA:2308
HP:0000525	Abnormality iris morphology	60	ACTB	OMIM:243310
HP:0000525	Abnormality iris morphology	60	ACTB	ORPHA:2995
HP:0000525	Abnormality iris morphology	65250	CPLANE1	ORPHA:475
HP:0000525	Abnormality iris morphology	200894	ARL13B	ORPHA:475
HP:0000525	Abnormality iris morphology	9731	CEP104	ORPHA:475
HP:0000525	Abnormality iris morphology	219844	HYLS1	ORPHA:475
HP:0000525	Abnormality iris morphology	23247	KATNIP	ORPHA:475
HP:0000525	Abnormality iris morphology	219854	TMEM218	ORPHA:475
HP:0000525	Abnormality iris morphology	9786	KIAA0586	ORPHA:475
HP:0000525	Abnormality iris morphology	10464	PIBF1	ORPHA:475
HP:0000525	Abnormality iris morphology	80210	ARMC9	ORPHA:475
HP:0000525	Abnormality iris morphology	23116	TOGARAM1	ORPHA:475
HP:0000525	Abnormality iris morphology	25776	CBY1	ORPHA:475
HP:0000525	Abnormality iris morphology	403	ARL3	ORPHA:475
HP:0000525	Abnormality iris morphology	64840	PORCN	OMIM:305600
HP:0000525	Abnormality iris morphology	64840	PORCN	ORPHA:2092
HP:0000525	Abnormality iris morphology	23347	SMCHD1	ORPHA:2250
HP:0000525	Abnormality iris morphology	157680	VPS13B	ORPHA:193
HP:0000525	Abnormality iris morphology	6608	SMO	OMIM:601707
HP:0000525	Abnormality iris morphology	6608	SMO	ORPHA:1553
HP:0000525	Abnormality iris morphology	1349	COX7B	OMIM:309801
HP:0000525	Abnormality iris morphology	3052	HCCS	OMIM:309801
HP:0000525	Abnormality iris morphology	54539	NDUFB11	OMIM:309801
HP:0000525	Abnormality iris morphology	6711	SPTBN1	OMIM:619475
HP:0000525	Abnormality iris morphology	286	ANK1	ORPHA:251066
HP:0000525	Abnormality iris morphology	60684	TRAPPC11	ORPHA:869
HP:0000525	Abnormality iris morphology	8085	KMT2D	OMIM:620186
HP:0000525	Abnormality iris morphology	85365	ALG2	ORPHA:79326
HP:0000525	Abnormality iris morphology	85365	ALG2	OMIM:607906
HP:0000525	Abnormality iris morphology	84172	POLR1B	ORPHA:861
HP:0000525	Abnormality iris morphology	9533	POLR1C	ORPHA:861
HP:0000525	Abnormality iris morphology	51082	POLR1D	ORPHA:861
HP:0000525	Abnormality iris morphology	6949	TCOF1	ORPHA:861
HP:0000525	Abnormality iris morphology	6299	SALL1	ORPHA:857
HP:0000525	Abnormality iris morphology	51339	DACT1	ORPHA:857
HP:0000525	Abnormality iris morphology	9573	GDF3	OMIM:613702
HP:0000525	Abnormality iris morphology	9338	TCEAL1	OMIM:301094
HP:0000525	Abnormality iris morphology	113246	C12orf57	OMIM:218340
HP:0000525	Abnormality iris morphology	7837	PXDN	OMIM:269400
HP:0000525	Abnormality iris morphology	8643	PTCH2	ORPHA:377
HP:0000525	Abnormality iris morphology	652	BMP4	ORPHA:139471
HP:0000525	Abnormality iris morphology	51360	MBTPS2	ORPHA:85284
HP:0000525	Abnormality iris morphology	8777	MPDZ	OMIM:615219
HP:0000525	Abnormality iris morphology	4094	MAF	OMIM:610202
HP:0000525	Abnormality iris morphology	4094	MAF	ORPHA:1377
HP:0000525	Abnormality iris morphology	4990	SIX6	OMIM:212550
HP:0000525	Abnormality iris morphology	3166	HMX1	OMIM:612109
HP:0000525	Abnormality iris morphology	71	ACTG1	ORPHA:2995
HP:0000525	Abnormality iris morphology	50945	TBX22	ORPHA:921
HP:0000525	Abnormality iris morphology	2776	GNAQ	ORPHA:3205
HP:0000525	Abnormality iris morphology	9897	WASHC5	ORPHA:7
HP:0000525	Abnormality iris morphology	28952	CCDC22	ORPHA:7
HP:0000525	Abnormality iris morphology	10195	ALG3	OMIM:601110
HP:0000525	Abnormality iris morphology	257	ALX3	ORPHA:391474
HP:0000525	Abnormality iris morphology	2703	GJA8	ORPHA:1377
HP:0000525	Abnormality iris morphology	1413	CRYBA4	ORPHA:1377
HP:0000525	Abnormality iris morphology	1415	CRYBB2	ORPHA:1377
HP:0000525	Abnormality iris morphology	1414	CRYBB1	ORPHA:1377
HP:0000525	Abnormality iris morphology	1420	CRYGC	ORPHA:1377
HP:0000525	Abnormality iris morphology	1421	CRYGD	ORPHA:1377
HP:0000525	Abnormality iris morphology	10058	ABCB6	OMIM:614497
HP:0000525	Abnormality iris morphology	1281	COL3A1	ORPHA:286
HP:0000525	Abnormality iris morphology	112802	KRT71	ORPHA:170
HP:0000525	Abnormality iris morphology	121391	KRT74	ORPHA:170
HP:0000525	Abnormality iris morphology	200879	LIPH	ORPHA:170
HP:0000525	Abnormality iris morphology	10161	LPAR6	ORPHA:170
HP:0000525	Abnormality iris morphology	147183	KRT25	ORPHA:170
HP:0000525	Abnormality iris morphology	8929	PHOX2B	ORPHA:2151
HP:0000525	Abnormality iris morphology	8518	ELP1	ORPHA:1764
HP:0000525	Abnormality iris morphology	4952	OCRL	ORPHA:534
HP:0000525	Abnormality iris morphology	6786	STIM1	OMIM:160565
HP:0000525	Abnormality iris morphology	4359	MPZ	ORPHA:101082
HP:0000525	Abnormality iris morphology	51132	RLIM	OMIM:300978
HP:0000525	Abnormality iris morphology	5077	PAX3	OMIM:193500
HP:0000525	Abnormality iris morphology	5077	PAX3	OMIM:148820
HP:0000525	Abnormality iris morphology	57479	PRR12	OMIM:619539
HP:0000525	Abnormality iris morphology	7299	TYR	OMIM:203100
HP:0000525	Abnormality iris morphology	8924	HERC2	OMIM:615516
HP:0000525	Abnormality iris morphology	51151	SLC45A2	OMIM:606574
HP:0000525	Abnormality iris morphology	6638	SNRPN	OMIM:105830
HP:0000525	Abnormality iris morphology	7337	UBE3A	OMIM:105830
HP:0000525	Abnormality iris morphology	8626	TP63	OMIM:604292
HP:0000525	Abnormality iris morphology	5573	PRKAR1A	ORPHA:280651
HP:0000525	Abnormality iris morphology	5573	PRKAR1A	OMIM:101800
HP:0000525	Abnormality iris morphology	5144	PDE4D	ORPHA:280651
HP:0000525	Abnormality iris morphology	5144	PDE4D	OMIM:614613
HP:0000525	Abnormality iris morphology	5594	MAPK1	OMIM:619087
HP:0000525	Abnormality iris morphology	6663	SOX10	OMIM:613266
HP:0000525	Abnormality iris morphology	6663	SOX10	OMIM:611584
HP:0000525	Abnormality iris morphology	1908	EDN3	OMIM:613265
HP:0000525	Abnormality iris morphology	4254	KITLG	OMIM:619947
HP:0000525	Abnormality iris morphology	5053	PAH	OMIM:261600
HP:0000525	Abnormality iris morphology	1910	EDNRB	OMIM:277580
HP:0000525	Abnormality iris morphology	6654	SOS1	OMIM:610733
HP:0000525	Abnormality iris morphology	7306	TYRP1	ORPHA:79433
HP:0000525	Abnormality iris morphology	5828	PEX2	OMIM:614866
HP:0000525	Abnormality iris morphology	5828	PEX2	ORPHA:912
HP:0000525	Abnormality iris morphology	55670	PEX26	ORPHA:912
HP:0000525	Abnormality iris morphology	5824	PEX19	ORPHA:912
HP:0000525	Abnormality iris morphology	8504	PEX3	ORPHA:912
HP:0000525	Abnormality iris morphology	8799	PEX11B	ORPHA:912
HP:0000525	Abnormality iris morphology	9409	PEX16	ORPHA:912
HP:0000525	Abnormality iris morphology	5190	PEX6	ORPHA:912
HP:0000525	Abnormality iris morphology	5830	PEX5	ORPHA:912
HP:0000525	Abnormality iris morphology	5830	PEX5	OMIM:214110
HP:0000525	Abnormality iris morphology	5189	PEX1	ORPHA:912
HP:0000525	Abnormality iris morphology	5189	PEX1	OMIM:214100
HP:0000525	Abnormality iris morphology	5193	PEX12	ORPHA:912
HP:0000525	Abnormality iris morphology	5194	PEX13	ORPHA:912
HP:0000525	Abnormality iris morphology	5195	PEX14	ORPHA:912
HP:0000525	Abnormality iris morphology	5192	PEX10	ORPHA:912
HP:0000525	Abnormality iris morphology	2623	GATA1	OMIM:190685
HP:0000525	Abnormality iris morphology	444	ASPH	OMIM:601552
HP:0000525	Abnormality iris morphology	4041	LRP5	OMIM:259770
HP:0000525	Abnormality iris morphology	27235	COQ2	OMIM:146500
HP:0000525	Abnormality iris morphology	6591	SNAI2	ORPHA:895
HP:0000525	Abnormality iris morphology	6591	SNAI2	ORPHA:2884
HP:0000525	Abnormality iris morphology	80153	EDC3	OMIM:616460
HP:0000525	Abnormality iris morphology	3815	KIT	OMIM:172800
HP:0000525	Abnormality iris morphology	3815	KIT	ORPHA:2884
HP:0000525	Abnormality iris morphology	64127	NOD2	OMIM:186580
HP:0000525	Abnormality iris morphology	57724	EPG5	OMIM:242840
HP:0000525	Abnormality iris morphology	8943	AP3D1	OMIM:617050
HP:0000525	Abnormality iris morphology	8943	AP3D1	ORPHA:1000
HP:0000525	Abnormality iris morphology	8943	AP3D1	ORPHA:54
HP:0000525	Abnormality iris morphology	3257	HPS1	OMIM:203300
HP:0000525	Abnormality iris morphology	5590	PRKCZ	ORPHA:1606
HP:0000525	Abnormality iris morphology	2563	GABRD	ORPHA:1606
HP:0000525	Abnormality iris morphology	23013	SPEN	ORPHA:1606
HP:0000525	Abnormality iris morphology	8510	MMP23B	ORPHA:1606
HP:0000525	Abnormality iris morphology	7798	LUZP1	ORPHA:1606
HP:0000525	Abnormality iris morphology	6497	SKI	ORPHA:1606
HP:0000525	Abnormality iris morphology	10630	PDPN	ORPHA:1606
HP:0000525	Abnormality iris morphology	3339	HSPG2	ORPHA:1606
HP:0000525	Abnormality iris morphology	10277	UBE4B	ORPHA:1606
HP:0000525	Abnormality iris morphology	8514	KCNAB2	ORPHA:1606
HP:0000525	Abnormality iris morphology	63976	PRDM16	ORPHA:1606
HP:0000525	Abnormality iris morphology	54897	CASZ1	ORPHA:1606
HP:0000525	Abnormality iris morphology	8546	AP3B1	OMIM:608233
HP:0000525	Abnormality iris morphology	1130	LYST	ORPHA:352723
HP:0000525	Abnormality iris morphology	1130	LYST	OMIM:214500
HP:0000525	Abnormality iris morphology	4935	GPR143	ORPHA:54
HP:0000525	Abnormality iris morphology	4935	GPR143	OMIM:300500
HP:0000525	Abnormality iris morphology	89781	HPS4	OMIM:614073
HP:0000525	Abnormality iris morphology	26258	BLOC1S6	OMIM:614171
HP:0000525	Abnormality iris morphology	79803	HPS6	OMIM:614075
HP:0000525	Abnormality iris morphology	84062	DTNBP1	OMIM:614076
HP:0000525	Abnormality iris morphology	9653	HS2ST1	OMIM:619194
HP:0000525	Abnormality iris morphology	2074	ERCC6	OMIM:133540
HP:0000525	Abnormality iris morphology	55733	HHAT	ORPHA:1422
HP:0000525	Abnormality iris morphology	55733	HHAT	OMIM:600092
HP:0000525	Abnormality iris morphology	406960	MIR184	OMIM:614303
HP:0000525	Abnormality iris morphology	84942	WDR73	OMIM:251300
HP:0000525	Abnormality iris morphology	7399	USH2A	ORPHA:231178
HP:0000525	Abnormality iris morphology	79955	PDZD7	ORPHA:231178
HP:0000525	Abnormality iris morphology	4647	MYO7A	ORPHA:231178
HP:0000525	Abnormality iris morphology	4647	MYO7A	ORPHA:231169
HP:0000525	Abnormality iris morphology	25861	WHRN	ORPHA:231178
HP:0000525	Abnormality iris morphology	84059	ADGRV1	ORPHA:231178
HP:0000525	Abnormality iris morphology	7681	MKRN3	OMIM:176270
HP:0000525	Abnormality iris morphology	3653	IPW	OMIM:176270
HP:0000525	Abnormality iris morphology	54551	MAGEL2	OMIM:176270
HP:0000525	Abnormality iris morphology	54551	MAGEL2	ORPHA:98754
HP:0000525	Abnormality iris morphology	54551	MAGEL2	ORPHA:177904
HP:0000525	Abnormality iris morphology	54551	MAGEL2	ORPHA:177901
HP:0000525	Abnormality iris morphology	54551	MAGEL2	ORPHA:177910
HP:0000525	Abnormality iris morphology	791114	PWRN1	OMIM:176270
HP:0000525	Abnormality iris morphology	100033413	SNORD116-1	OMIM:176270
HP:0000525	Abnormality iris morphology	145624	PWAR1	OMIM:176270
HP:0000525	Abnormality iris morphology	23742	NPAP1	OMIM:176270
HP:0000525	Abnormality iris morphology	338433	SNORD115-1	OMIM:176270
HP:0000525	Abnormality iris morphology	7401	CLRN1	ORPHA:231183
HP:0000525	Abnormality iris morphology	22901	ARSG	ORPHA:231183
HP:0000525	Abnormality iris morphology	4575	MT-TS2	ORPHA:231183
HP:0000525	Abnormality iris morphology	3035	HARS1	ORPHA:231183
HP:0000525	Abnormality iris morphology	84131	CEP78	ORPHA:231183
HP:0000525	Abnormality iris morphology	4692	NDN	ORPHA:98754
HP:0000525	Abnormality iris morphology	4692	NDN	ORPHA:177904
HP:0000525	Abnormality iris morphology	4692	NDN	ORPHA:177901
HP:0000525	Abnormality iris morphology	4692	NDN	ORPHA:177910
HP:0000525	Abnormality iris morphology	5961	PRPH2	ORPHA:99000
HP:0000525	Abnormality iris morphology	7439	BEST1	ORPHA:99000
HP:0000525	Abnormality iris morphology	50939	IMPG2	ORPHA:99000
HP:0000525	Abnormality iris morphology	3617	IMPG1	ORPHA:99000
HP:0000525	Abnormality iris morphology	284058	KANSL1	OMIM:610443
HP:0000525	Abnormality iris morphology	64072	CDH23	ORPHA:231169
HP:0000525	Abnormality iris morphology	10083	USH1C	ORPHA:231169
HP:0000525	Abnormality iris morphology	124590	USH1G	ORPHA:231169
HP:0000525	Abnormality iris morphology	83715	ESPN	ORPHA:231169
HP:0000525	Abnormality iris morphology	10518	CIB2	ORPHA:231169
HP:0000525	Abnormality iris morphology	65217	PCDH15	ORPHA:231169
HP:0000525	Abnormality iris morphology	64132	XYLT2	ORPHA:85194
HP:0000525	Abnormality iris morphology	57194	ATP10A	ORPHA:411515
HP:0000525	Abnormality iris morphology	4644	MYO5A	ORPHA:79476
HP:0000525	Abnormality iris morphology	4644	MYO5A	ORPHA:79478
HP:0000525	Abnormality iris morphology	5873	RAB27A	ORPHA:79477
HP:0000525	Abnormality iris morphology	79083	MLPH	ORPHA:79478
HP:0000525	Abnormality iris morphology	57167	SALL4	ORPHA:233
HP:0000525	Abnormality iris morphology	9935	MAFB	ORPHA:233
HP:0000525	Abnormality iris morphology	1123	CHN1	ORPHA:233
HP:0000525	Abnormality iris morphology	10908	PNPLA6	OMIM:275400
HP:0000525	Abnormality iris morphology	5728	PTEN	ORPHA:744
HP:0000525	Abnormality iris morphology	207	AKT1	ORPHA:744
HP:0000525	Abnormality iris morphology	4653	MYOC	OMIM:137750
HP:0000525	Abnormality iris morphology	4629	MYH11	OMIM:132900
HP:0000525	Abnormality iris morphology	283652	SLC24A5	ORPHA:370097
HP:0000525	Abnormality iris morphology	627	BDNF	ORPHA:893
HP:0000525	Abnormality iris morphology	84314	TMEM107	ORPHA:564
HP:0000525	Abnormality iris morphology	26123	TCTN3	ORPHA:564
HP:0000525	Abnormality iris morphology	79867	TCTN2	ORPHA:564
HP:0000525	Abnormality iris morphology	80776	B9D2	ORPHA:564
HP:0000525	Abnormality iris morphology	79600	TCTN1	ORPHA:564
HP:0000525	Abnormality iris morphology	57096	RPGRIP1	ORPHA:564
HP:0000525	Abnormality iris morphology	79848	CSPP1	ORPHA:564
HP:0000525	Abnormality iris morphology	80184	CEP290	ORPHA:564
HP:0000525	Abnormality iris morphology	51259	TMEM216	ORPHA:564
HP:0000525	Abnormality iris morphology	57545	CC2D2A	ORPHA:564
HP:0000525	Abnormality iris morphology	79583	TMEM231	ORPHA:564
HP:0000525	Abnormality iris morphology	79770	TXNDC15	ORPHA:564
HP:0000525	Abnormality iris morphology	27077	B9D1	ORPHA:564
HP:0000525	Abnormality iris morphology	23322	RPGRIP1L	ORPHA:564
HP:0000525	Abnormality iris morphology	54903	MKS1	ORPHA:564
HP:0000525	Abnormality iris morphology	65062	TMEM237	ORPHA:564
HP:0000525	Abnormality iris morphology	6804	STX1A	ORPHA:904
HP:0000525	Abnormality iris morphology	7461	CLIP2	ORPHA:904
HP:0000525	Abnormality iris morphology	84277	DNAJC30	ORPHA:904
HP:0000525	Abnormality iris morphology	8468	FKBP6	ORPHA:904
HP:0000525	Abnormality iris morphology	5982	RFC2	ORPHA:904
HP:0000525	Abnormality iris morphology	2969	GTF2I	ORPHA:904
HP:0000525	Abnormality iris morphology	3984	LIMK1	ORPHA:904
HP:0000525	Abnormality iris morphology	9569	GTF2IRD1	ORPHA:904
HP:0000525	Abnormality iris morphology	155382	VPS37D	ORPHA:904
HP:0000525	Abnormality iris morphology	155368	METTL27	ORPHA:904
HP:0000525	Abnormality iris morphology	114049	BUD23	ORPHA:904
HP:0000525	Abnormality iris morphology	7458	EIF4H	ORPHA:904
HP:0000525	Abnormality iris morphology	84163	GTF2IRD2	ORPHA:904
HP:0000525	Abnormality iris morphology	9275	BCL7B	ORPHA:904
HP:0000525	Abnormality iris morphology	26608	TBL2	ORPHA:904
HP:0000525	Abnormality iris morphology	653361	NCF1	ORPHA:904
HP:0000525	Abnormality iris morphology	135886	TMEM270	ORPHA:904
HP:0000525	Abnormality iris morphology	51085	MLXIPL	ORPHA:904
HP:0000525	Abnormality iris morphology	9031	BAZ1B	ORPHA:904
HP:0000525	Abnormality iris morphology	2006	ELN	ORPHA:904
HP:0000525	Abnormality iris morphology	672	BRCA1	ORPHA:84
HP:0000525	Abnormality iris morphology	10459	MAD2L2	ORPHA:84
HP:0000525	Abnormality iris morphology	7516	XRCC2	ORPHA:84
HP:0000525	Abnormality iris morphology	29089	UBE2T	ORPHA:84
HP:0000525	Abnormality iris morphology	675	BRCA2	ORPHA:84
HP:0000525	Abnormality iris morphology	55120	FANCL	ORPHA:84
HP:0000525	Abnormality iris morphology	2177	FANCD2	ORPHA:84
HP:0000525	Abnormality iris morphology	2175	FANCA	ORPHA:84
HP:0000525	Abnormality iris morphology	2187	FANCB	ORPHA:84
HP:0000525	Abnormality iris morphology	2176	FANCC	ORPHA:84
HP:0000525	Abnormality iris morphology	2178	FANCE	ORPHA:84
HP:0000525	Abnormality iris morphology	2188	FANCF	ORPHA:84
HP:0000525	Abnormality iris morphology	2189	FANCG	ORPHA:84
HP:0000525	Abnormality iris morphology	5888	RAD51	ORPHA:84
HP:0000525	Abnormality iris morphology	5889	RAD51C	ORPHA:84
HP:0000525	Abnormality iris morphology	55159	RFWD3	ORPHA:84
HP:0000525	Abnormality iris morphology	83990	BRIP1	ORPHA:84
HP:0000525	Abnormality iris morphology	57697	FANCM	ORPHA:84
HP:0000525	Abnormality iris morphology	79728	PALB2	ORPHA:84
HP:0000525	Abnormality iris morphology	84464	SLX4	ORPHA:84
HP:0000525	Abnormality iris morphology	2072	ERCC4	ORPHA:84
HP:0000525	Abnormality iris morphology	55215	FANCI	ORPHA:84
HP:0000525	Abnormality iris morphology	2956	MSH6	OMIM:619097
HP:0000525	Abnormality iris morphology	161742	SPRED1	ORPHA:137605
HP:0000525	Abnormality iris morphology	4771	NF2	OMIM:101000
HP:0000525	Abnormality iris morphology	4010	LMX1B	ORPHA:2614
HP:0000525	Abnormality iris morphology	4010	LMX1B	OMIM:161200
HP:0000525	Abnormality iris morphology	284252	KCTD1	OMIM:181270
HP:0000525	Abnormality iris morphology	4016	LOXL1	OMIM:177650
HP:0000525	Abnormality iris morphology	1656	DDX6	OMIM:618653
HP:0000525	Abnormality iris morphology	91147	TMEM67	OMIM:613550
HP:0000525	Abnormality iris morphology	29926	GMPPA	OMIM:615510
HP:0000525	Abnormality iris morphology	5376	PMP22	ORPHA:90658
HP:0000525	Abnormality iris morphology	79628	SH3TC2	ORPHA:99949
HP:0000525	Abnormality iris morphology	25942	SIN3A	OMIM:613406
HP:0000525	Abnormality iris morphology	8086	AAAS	OMIM:231550
HP:0000525	Abnormality iris morphology	3265	HRAS	ORPHA:79414
HP:0000525	Abnormality iris morphology	80781	COL18A1	OMIM:267750
HP:0000525	Abnormality iris morphology	220202	ATOH7	OMIM:221900
HP:0000525	Abnormality iris morphology	220202	ATOH7	ORPHA:91495
HP:0000525	Abnormality iris morphology	27151	CPAMD8	OMIM:617319
HP:0000525	Abnormality iris morphology	54507	ADAMTSL4	OMIM:225200
HP:0000525	Abnormality iris morphology	29954	POMT2	OMIM:613150
HP:0000525	Abnormality iris morphology	4693	NDP	ORPHA:91495
HP:0000525	Abnormality iris morphology	8322	FZD4	ORPHA:91495
HP:0000525	Abnormality iris morphology	80036	TRPM3	OMIM:620253
HP:0000525	Abnormality iris morphology	2697	GJA1	OMIM:257850
HP:0000525	Abnormality iris morphology	2296	FOXC1	OMIM:601631
HP:0000525	Abnormality iris morphology	2296	FOXC1	OMIM:602482
HP:0000525	Abnormality iris morphology	9839	ZEB2	ORPHA:261552
HP:0000525	Abnormality iris morphology	9839	ZEB2	OMIM:235730
HP:0000525	Abnormality iris morphology	6909	TBX2	OMIM:618223
HP:0000525	Abnormality iris morphology	5130	PCYT1A	ORPHA:85167
HP:0000525	Abnormality iris morphology	79977	GRHL2	OMIM:618031
HP:0000525	Abnormality iris morphology	79977	GRHL2	ORPHA:98973
HP:0000525	Abnormality iris morphology	2200	FBN1	ORPHA:1885
HP:0000525	Abnormality iris morphology	6935	ZEB1	OMIM:609141
HP:0000525	Abnormality iris morphology	6935	ZEB1	ORPHA:98973
HP:0000525	Abnormality iris morphology	58495	OVOL2	OMIM:122000
HP:0000525	Abnormality iris morphology	58495	OVOL2	ORPHA:98973
HP:0000525	Abnormality iris morphology	387	RHOA	OMIM:618727
HP:0000525	Abnormality iris morphology	10586	MAB21L2	OMIM:615877
HP:0000525	Abnormality iris morphology	1282	COL4A1	OMIM:175780
HP:0000525	Abnormality iris morphology	53834	FGFRL1	OMIM:194190
HP:0000525	Abnormality iris morphology	1487	CTBP1	OMIM:194190
HP:0000525	Abnormality iris morphology	3954	LETM1	OMIM:194190
HP:0000525	Abnormality iris morphology	7468	NSD2	OMIM:194190
HP:0000525	Abnormality iris morphology	10815	CPLX1	OMIM:194190
HP:0000525	Abnormality iris morphology	5308	PITX2	OMIM:180500
HP:0000525	Abnormality iris morphology	7490	WT1	OMIM:106210
HP:0000525	Abnormality iris morphology	5080	PAX6	OMIM:106210
HP:0000525	Abnormality iris morphology	30813	VSX1	ORPHA:98973
HP:0000525	Abnormality iris morphology	1296	COL8A2	ORPHA:98973
HP:0000525	Abnormality iris morphology	92154	MTSS2	OMIM:620086
HP:0000525	Abnormality iris morphology	8314	BAP1	ORPHA:39044
HP:0000525	Abnormality iris morphology	57105	CYSLTR2	ORPHA:39044
HP:0000525	Abnormality iris morphology	23451	SF3B1	ORPHA:39044
HP:0000525	Abnormality iris morphology	63915	BLOC1S5	OMIM:619172
HP:0000525	Abnormality iris morphology	114902	C1QTNF5	ORPHA:67042
HP:0000525	Abnormality iris morphology	11234	HPS5	OMIM:614074
HP:0000525	Abnormality iris morphology	388552	BLOC1S3	OMIM:614077
HP:0000525	Abnormality iris morphology	1638	DCT	OMIM:619165
HP:0000525	Abnormality iris morphology	83938	LRMDA	OMIM:615179
HP:0000525	Abnormality iris morphology	11152	WDR45	OMIM:615179
HP:0000525	Abnormality iris morphology	91851	CHRDL1	OMIM:309300
HP:0000525	Abnormality iris morphology	4286	MITF	OMIM:617306
HP:0000525	Abnormality iris morphology	4157	MC1R	ORPHA:79432
HP:0000525	Abnormality iris morphology	4948	OCA2	ORPHA:79432
HP:0000525	Abnormality iris morphology	2670	GFAP	OMIM:203450
HP:0000525	Abnormality iris morphology	4796	TONSL	ORPHA:93357
HP:0000525	Abnormality iris morphology	170691	ADAMTS17	OMIM:613195
HP:0000525	Abnormality iris morphology	4053	LTBP2	OMIM:251750
HP:0000525	Abnormality iris morphology	59	ACTA2	OMIM:611788
HP:0000529	Progressive visual loss	3735	KARS1	OMIM:619196
HP:0000529	Progressive visual loss	1121	CHM	OMIM:303100
HP:0000529	Progressive visual loss	1121	CHM	ORPHA:180
HP:0000529	Progressive visual loss	11277	TREX1	OMIM:192315
HP:0000529	Progressive visual loss	157657	CFAP418	OMIM:614500
HP:0000529	Progressive visual loss	3426	CFI	OMIM:615439
HP:0000529	Progressive visual loss	11340	EXOSC8	ORPHA:2254
HP:0000529	Progressive visual loss	5393	EXOSC9	ORPHA:2254
HP:0000529	Progressive visual loss	23287	AGTPBP1	ORPHA:2254
HP:0000529	Progressive visual loss	51010	EXOSC3	ORPHA:2254
HP:0000529	Progressive visual loss	7443	VRK1	ORPHA:2254
HP:0000529	Progressive visual loss	91137	SLC25A46	ORPHA:2254
HP:0000529	Progressive visual loss	91137	SLC25A46	OMIM:616505
HP:0000529	Progressive visual loss	6247	RS1	OMIM:312700
HP:0000529	Progressive visual loss	1308	COL17A1	ORPHA:293381
HP:0000529	Progressive visual loss	4758	NEU1	OMIM:256550
HP:0000529	Progressive visual loss	4758	NEU1	ORPHA:812
HP:0000529	Progressive visual loss	54982	CLN6	OMIM:601780
HP:0000529	Progressive visual loss	10908	PNPLA6	OMIM:215470
HP:0000529	Progressive visual loss	4036	LRP2	OMIM:222448
HP:0000529	Progressive visual loss	4036	LRP2	ORPHA:2143
HP:0000529	Progressive visual loss	6452	SH3BP2	ORPHA:184
HP:0000529	Progressive visual loss	6017	RLBP1	ORPHA:52427
HP:0000529	Progressive visual loss	6017	RLBP1	ORPHA:85128
HP:0000529	Progressive visual loss	6010	RHO	ORPHA:52427
HP:0000529	Progressive visual loss	5959	RDH5	ORPHA:52427
HP:0000529	Progressive visual loss	9742	IFT140	OMIM:617781
HP:0000529	Progressive visual loss	478	ATP1A3	OMIM:601338
HP:0000529	Progressive visual loss	79587	CARS2	ORPHA:477774
HP:0000529	Progressive visual loss	92211	CDHR1	OMIM:613660
HP:0000529	Progressive visual loss	3075	CFH	OMIM:126700
HP:0000529	Progressive visual loss	4221	MEN1	ORPHA:2965
HP:0000529	Progressive visual loss	64072	CDH23	ORPHA:2965
HP:0000529	Progressive visual loss	64072	CDH23	ORPHA:91347
HP:0000529	Progressive visual loss	9049	AIP	ORPHA:2965
HP:0000529	Progressive visual loss	10461	MERTK	OMIM:613862
HP:0000529	Progressive visual loss	1200	TPP1	OMIM:204500
HP:0000529	Progressive visual loss	6314	ATXN7	OMIM:164500
HP:0000529	Progressive visual loss	348	APOE	OMIM:603075
HP:0000529	Progressive visual loss	83872	HMCN1	OMIM:603075
HP:0000529	Progressive visual loss	3078	CFHR1	OMIM:603075
HP:0000529	Progressive visual loss	10878	CFHR3	OMIM:603075
HP:0000529	Progressive visual loss	50964	SOST	OMIM:122860
HP:0000529	Progressive visual loss	4942	OAT	ORPHA:414
HP:0000529	Progressive visual loss	403	ARL3	OMIM:618161
HP:0000529	Progressive visual loss	5264	PHYH	ORPHA:773
HP:0000529	Progressive visual loss	5191	PEX7	ORPHA:773
HP:0000529	Progressive visual loss	7345	UCHL1	OMIM:615491
HP:0000529	Progressive visual loss	6651	SON	ORPHA:500150
HP:0000529	Progressive visual loss	5631	PRPS1	OMIM:311070
HP:0000529	Progressive visual loss	64218	SEMA4A	OMIM:610283
HP:0000529	Progressive visual loss	5538	PPT1	OMIM:256730
HP:0000529	Progressive visual loss	79797	ZNF408	OMIM:616468
HP:0000529	Progressive visual loss	1203	CLN5	OMIM:256731
HP:0000529	Progressive visual loss	2058	EPRS1	OMIM:617951
HP:0000529	Progressive visual loss	8792	TNFRSF11A	OMIM:612301
HP:0000529	Progressive visual loss	1634	DCN	OMIM:610048
HP:0000529	Progressive visual loss	1201	CLN3	ORPHA:228346
HP:0000529	Progressive visual loss	1201	CLN3	OMIM:204200
HP:0000529	Progressive visual loss	2055	CLN8	ORPHA:1947
HP:0000529	Progressive visual loss	2055	CLN8	OMIM:600143
HP:0000529	Progressive visual loss	285440	CYP4V2	OMIM:210370
HP:0000529	Progressive visual loss	4547	MTTP	ORPHA:14
HP:0000529	Progressive visual loss	83636	C19orf12	OMIM:614298
HP:0000529	Progressive visual loss	51109	RDH11	ORPHA:436245
HP:0000529	Progressive visual loss	80781	COL18A1	ORPHA:1571
HP:0000529	Progressive visual loss	5062	PAK2	ORPHA:1571
HP:0000529	Progressive visual loss	57670	KIAA1549	OMIM:618613
HP:0000529	Progressive visual loss	5130	PCYT1A	OMIM:608940
HP:0000529	Progressive visual loss	26146	TRAF3IP1	ORPHA:3156
HP:0000529	Progressive visual loss	9657	IQCB1	ORPHA:3156
HP:0000529	Progressive visual loss	10806	SDCCAG8	ORPHA:3156
HP:0000529	Progressive visual loss	27130	INVS	ORPHA:3156
HP:0000529	Progressive visual loss	80184	CEP290	ORPHA:3156
HP:0000529	Progressive visual loss	4867	NPHP1	ORPHA:3156
HP:0000529	Progressive visual loss	261734	NPHP4	ORPHA:3156
HP:0000529	Progressive visual loss	57728	WDR19	ORPHA:3156
HP:0000529	Progressive visual loss	27031	NPHP3	ORPHA:3156
HP:0000529	Progressive visual loss	22897	CEP164	ORPHA:3156
HP:0000529	Progressive visual loss	4976	OPA1	OMIM:210000
HP:0000529	Progressive visual loss	4976	OPA1	ORPHA:1215
HP:0000529	Progressive visual loss	4763	NF1	ORPHA:97685
HP:0000529	Progressive visual loss	10059	DNM1L	OMIM:610708
HP:0000529	Progressive visual loss	7045	TGFBI	ORPHA:98960
HP:0000529	Progressive visual loss	7045	TGFBI	ORPHA:98964
HP:0000529	Progressive visual loss	79152	FA2H	ORPHA:329308
HP:0000529	Progressive visual loss	84839	RAX2	OMIM:610381
HP:0000529	Progressive visual loss	94137	RP1L1	OMIM:613587
HP:0000529	Progressive visual loss	8314	BAP1	ORPHA:2495
HP:0000529	Progressive visual loss	4771	NF2	ORPHA:2495
HP:0000529	Progressive visual loss	6598	SMARCB1	ORPHA:2495
HP:0000529	Progressive visual loss	5155	PDGFB	ORPHA:2495
HP:0000529	Progressive visual loss	84231	TRAF7	ORPHA:2495
HP:0000529	Progressive visual loss	6608	SMO	ORPHA:2495
HP:0000529	Progressive visual loss	207	AKT1	ORPHA:2495
HP:0000529	Progressive visual loss	5290	PIK3CA	ORPHA:2495
HP:0000529	Progressive visual loss	7015	TERT	ORPHA:2495
HP:0000529	Progressive visual loss	51684	SUFU	ORPHA:2495
HP:0000529	Progressive visual loss	6605	SMARCE1	ORPHA:2495
HP:0000529	Progressive visual loss	9927	MFN2	OMIM:601152
HP:0000529	Progressive visual loss	84277	DNAJC30	ORPHA:104
HP:0000529	Progressive visual loss	4535	MT-ND1	ORPHA:104
HP:0000529	Progressive visual loss	4536	MT-ND2	ORPHA:104
HP:0000529	Progressive visual loss	4538	MT-ND4	ORPHA:104
HP:0000529	Progressive visual loss	4720	NDUFS2	ORPHA:104
HP:0000529	Progressive visual loss	4512	MT-CO1	ORPHA:104
HP:0000529	Progressive visual loss	4514	MT-CO3	ORPHA:104
HP:0000529	Progressive visual loss	4519	MT-CYB	ORPHA:104
HP:0000529	Progressive visual loss	4508	MT-ATP6	ORPHA:104
HP:0000529	Progressive visual loss	4540	MT-ND5	ORPHA:104
HP:0000529	Progressive visual loss	4541	MT-ND6	ORPHA:104
HP:0000529	Progressive visual loss	4539	MT-ND4L	ORPHA:104
HP:0000529	Progressive visual loss	5961	PRPH2	ORPHA:75377
HP:0000529	Progressive visual loss	3000	GUCY2D	ORPHA:75377
HP:0000529	Progressive visual loss	2978	GUCA1A	ORPHA:75377
HP:0000529	Progressive visual loss	1499	CTNNB1	ORPHA:54595
HP:0000529	Progressive visual loss	673	BRAF	ORPHA:54595
HP:0200150	Increased serum bile acid concentration during pregnancy	5244	ABCB4	OMIM:614972
HP:0200150	Increased serum bile acid concentration during pregnancy	5205	ATP8B1	OMIM:147480
HP:0200153	Agenesis of lateral incisor	641	BLM	OMIM:210900
HP:0200153	Agenesis of lateral incisor	2071	ERCC3	OMIM:616390
HP:0200153	Agenesis of lateral incisor	8260	NAA10	OMIM:309800
HP:0200153	Agenesis of lateral incisor	54880	BCOR	OMIM:309800
HP:0200153	Agenesis of lateral incisor	2260	FGFR1	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	4487	MSX1	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	128178	EDARADD	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	5083	PAX9	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	7341	SUMO1	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	80326	WNT10A	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	1896	EDA	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	8313	AXIN2	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	3664	IRF6	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	4040	LRP6	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	7039	TGFA	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	7480	WNT10B	ORPHA:99798
HP:0200153	Agenesis of lateral incisor	145173	B3GLCT	OMIM:261540
HP:0200153	Agenesis of lateral incisor	1748	DLX4	OMIM:616788
HP:0200153	Agenesis of lateral incisor	1748	DLX4	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	5818	NECTIN1	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	1739	DLG1	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	652	BMP4	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	8626	TP63	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	999	CDH1	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	5156	PDGFRA	ORPHA:199306
HP:0200153	Agenesis of lateral incisor	9411	ARHGAP29	ORPHA:199306
HP:0200151	Cutaneous mastocytosis	3815	KIT	ORPHA:280794
HP:0200151	Cutaneous mastocytosis	3815	KIT	ORPHA:280785
HP:0200151	Cutaneous mastocytosis	3815	KIT	OMIM:154800
HP:0010747	Medial flaring of the eyebrow	25	ABL1	OMIM:617602
HP:0010747	Medial flaring of the eyebrow	54840	APTX	ORPHA:1168
HP:0010747	Medial flaring of the eyebrow	2783	GNB2	OMIM:619503
HP:0010747	Medial flaring of the eyebrow	4897	NRCAM	OMIM:619833
HP:0010747	Medial flaring of the eyebrow	92482	BBIP1	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	80184	CEP290	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	11020	IFT27	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	582	BBS1	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	49855	SCAPER	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	4867	NPHP1	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	51057	WDPCP	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	27241	BBS9	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	84984	CEP19	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	22954	TRIM32	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	54903	MKS1	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	79738	BBS10	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	123016	TTC8	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	26160	IFT172	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	583	BBS2	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	585	BBS4	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	8195	MKKS	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	54585	LZTFL1	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	55212	BBS7	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	166379	BBS12	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	10806	SDCCAG8	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	157657	CFAP418	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	84100	ARL6	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	129880	BBS5	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	80173	IFT74	ORPHA:110
HP:0010747	Medial flaring of the eyebrow	25942	SIN3A	OMIM:613406
HP:0010747	Medial flaring of the eyebrow	118924	FRA10AC1	OMIM:620113
HP:0010747	Medial flaring of the eyebrow	51085	MLXIPL	OMIM:194050
HP:0010747	Medial flaring of the eyebrow	2006	ELN	OMIM:194050
HP:0010747	Medial flaring of the eyebrow	5587	PRKD1	OMIM:617364
HP:0010748	Ectopic lacrimal punctum	668	FOXL2	ORPHA:572333
HP:0010749	Blepharochalasis	1277	COL1A1	ORPHA:287
HP:0010749	Blepharochalasis	1289	COL5A1	ORPHA:287
HP:0010749	Blepharochalasis	1290	COL5A2	ORPHA:287
HP:0010749	Blepharochalasis	1009	CDH11	ORPHA:1299
HP:0010749	Blepharochalasis	9509	ADAMTS2	OMIM:225410
HP:0010749	Blepharochalasis	2934	GSN	ORPHA:85448
HP:0010741	Pedal edema	7092	TLL1	ORPHA:99103
HP:0010741	Pedal edema	57057	TBX20	ORPHA:99103
HP:0010741	Pedal edema	4624	MYH6	ORPHA:99103
HP:0010741	Pedal edema	1482	NKX2-5	ORPHA:99103
HP:0010741	Pedal edema	70	ACTC1	ORPHA:99103
HP:0010741	Pedal edema	10370	CITED2	ORPHA:99103
HP:0010741	Pedal edema	2626	GATA4	ORPHA:99103
HP:0010741	Pedal edema	2627	GATA6	ORPHA:99103
HP:0010741	Pedal edema	8195	MKKS	OMIM:236700
HP:0010741	Pedal edema	2335	FN1	ORPHA:84090
HP:0010741	Pedal edema	64324	NSD1	ORPHA:821
HP:0010741	Pedal edema	29072	SETD2	ORPHA:821
HP:0010741	Pedal edema	10297	APC2	ORPHA:821
HP:0010741	Pedal edema	4210	MEFV	ORPHA:342
HP:0010741	Pedal edema	213	ALB	ORPHA:86816
HP:0010741	Pedal edema	7075	TIE1	OMIM:619401
HP:0010741	Pedal edema	9158	FIBP	OMIM:617107
HP:0010741	Pedal edema	5573	PRKAR1A	ORPHA:615
HP:0010741	Pedal edema	3662	IRF4	ORPHA:3452
HP:0010741	Pedal edema	2324	FLT4	ORPHA:79452
HP:0010741	Pedal edema	57165	GJC2	ORPHA:79452
HP:0010741	Pedal edema	540	ATP7B	OMIM:277900
HP:0010741	Pedal edema	6638	SNRPN	ORPHA:98754
HP:0010741	Pedal edema	6638	SNRPN	ORPHA:177904
HP:0010741	Pedal edema	6638	SNRPN	ORPHA:177901
HP:0010741	Pedal edema	4692	NDN	ORPHA:98754
HP:0010741	Pedal edema	4692	NDN	ORPHA:177904
HP:0010741	Pedal edema	4692	NDN	ORPHA:177901
HP:0010741	Pedal edema	54551	MAGEL2	ORPHA:98754
HP:0010741	Pedal edema	54551	MAGEL2	ORPHA:177904
HP:0010741	Pedal edema	54551	MAGEL2	ORPHA:177901
HP:0010741	Pedal edema	4948	OCA2	ORPHA:98754
HP:0010741	Pedal edema	4948	OCA2	ORPHA:177904
HP:0010741	Pedal edema	4948	OCA2	ORPHA:177901
HP:0010741	Pedal edema	84196	USP48	ORPHA:96253
HP:0010741	Pedal edema	7157	TP53	ORPHA:96253
HP:0010741	Pedal edema	9101	USP8	ORPHA:96253
HP:0010741	Pedal edema	64072	CDH23	ORPHA:96253
HP:0010741	Pedal edema	2908	NR3C1	ORPHA:96253
HP:0010741	Pedal edema	673	BRAF	ORPHA:96253
HP:0010741	Pedal edema	546	ATRX	ORPHA:96253
HP:0010741	Pedal edema	547	KIF1A	ORPHA:2836
HP:0010741	Pedal edema	1280	COL2A1	ORPHA:166011
HP:0010741	Pedal edema	2050	EPHB4	ORPHA:90186
HP:0010741	Pedal edema	4615	MYD88	ORPHA:33226
HP:0010741	Pedal edema	440275	EIF2AK4	ORPHA:199241
HP:0010741	Pedal edema	2629	GBA1	ORPHA:77259
HP:0010741	Pedal edema	950	SCARB2	ORPHA:77259
HP:0010741	Pedal edema	7424	VEGFC	OMIM:615907
HP:0010741	Pedal edema	9373	PLAA	ORPHA:521426
HP:0010741	Pedal edema	7051	TGM1	ORPHA:281127
HP:0010741	Pedal edema	11342	RNF13	ORPHA:544503
HP:0010741	Pedal edema	9939	RBM8A	OMIM:274000
HP:0010741	Pedal edema	9326	ZNHIT3	OMIM:260565
HP:0010740	Osteopathia striata	139285	AMER1	OMIM:300373
HP:0010740	Osteopathia striata	64840	PORCN	OMIM:305600
HP:0010740	Osteopathia striata	80232	WDR26	ORPHA:513456
HP:0010740	Osteopathia striata	25782	RAB3GAP2	OMIM:212720
HP:0010740	Osteopathia striata	4796	TONSL	ORPHA:93357
HP:0010746	Hypoplasia of the phalanges of the toes	3549	IHH	OMIM:112500
HP:0010746	Hypoplasia of the phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010746	Hypoplasia of the phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010746	Hypoplasia of the phalanges of the toes	79971	WLS	OMIM:619648
HP:0010746	Hypoplasia of the phalanges of the toes	6597	SMARCA4	OMIM:614609
HP:0010746	Hypoplasia of the phalanges of the toes	57492	ARID1B	OMIM:135900
HP:0010746	Hypoplasia of the phalanges of the toes	9241	NOG	OMIM:186500
HP:0010745	Aplasia of the phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010745	Aplasia of the phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010745	Aplasia of the phalanges of the toes	4000	LMNA	ORPHA:2229
HP:0010745	Aplasia of the phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010745	Aplasia of the phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010745	Aplasia of the phalanges of the toes	8200	GDF5	ORPHA:2098
HP:0010745	Aplasia of the phalanges of the toes	658	BMPR1B	ORPHA:2098
HP:0010744	Absent metatarsal bone	7291	TWIST1	OMIM:101400
HP:0010744	Absent metatarsal bone	2263	FGFR2	OMIM:101400
HP:0010744	Absent metatarsal bone	64327	LMBR1	OMIM:200500
HP:0000531	Corneal crystals	1497	CTNS	ORPHA:411641
HP:0000531	Corneal crystals	1497	CTNS	OMIM:219800
HP:0000531	Corneal crystals	1497	CTNS	OMIM:219900
HP:0000531	Corneal crystals	1497	CTNS	ORPHA:411634
HP:0000531	Corneal crystals	1497	CTNS	ORPHA:411629
HP:0000531	Corneal crystals	1497	CTNS	OMIM:219750
HP:0000531	Corneal crystals	4166	CHST6	ORPHA:98969
HP:0000531	Corneal crystals	7045	TGFBI	ORPHA:98962
HP:0000531	Corneal crystals	7045	TGFBI	ORPHA:98963
HP:0000531	Corneal crystals	285440	CYP4V2	OMIM:210370
HP:0000534	Abnormal eyebrow morphology	3892	KRT86	ORPHA:573
HP:0000534	Abnormal eyebrow morphology	3889	KRT83	ORPHA:573
HP:0000534	Abnormal eyebrow morphology	3887	KRT81	ORPHA:573
HP:0000534	Abnormal eyebrow morphology	1041	CDSN	ORPHA:90368
HP:0000534	Abnormal eyebrow morphology	2200	FBN1	ORPHA:969
HP:0000534	Abnormal eyebrow morphology	4054	LTBP3	ORPHA:969
HP:0000534	Abnormal eyebrow morphology	64093	SMOC1	ORPHA:1106
HP:0000534	Abnormal eyebrow morphology	55630	SLC39A4	ORPHA:37
HP:0000534	Abnormal eyebrow morphology	91179	SCARF2	OMIM:600920
HP:0000534	Abnormal eyebrow morphology	80169	CTC1	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	26277	TINF2	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	55651	NHP2	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	55135	WRAP53	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	51750	RTEL1	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	4869	NPM1	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	7012	TERC	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	55505	NOP10	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	5073	PARN	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	7015	TERT	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	1736	DKC1	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	7298	TYMS	ORPHA:1775
HP:0000534	Abnormal eyebrow morphology	355	FAS	ORPHA:3437
HP:0000534	Abnormal eyebrow morphology	26191	PTPN22	ORPHA:3437
HP:0000534	Abnormal eyebrow morphology	55315	SLC29A3	ORPHA:168569
HP:0000534	Abnormal eyebrow morphology	64132	XYLT2	ORPHA:85194
HP:0000534	Abnormal eyebrow morphology	9131	AIFM1	OMIM:300232
HP:0000534	Abnormal eyebrow morphology	26235	FBXL4	OMIM:615471
HP:0000534	Abnormal eyebrow morphology	8367	H4C5	OMIM:619950
HP:0000534	Abnormal eyebrow morphology	9820	CUL7	ORPHA:2616
HP:0000534	Abnormal eyebrow morphology	9820	CUL7	OMIM:273750
HP:0000534	Abnormal eyebrow morphology	23363	OBSL1	ORPHA:2616
HP:0000534	Abnormal eyebrow morphology	83987	CCDC8	ORPHA:2616
HP:0000534	Abnormal eyebrow morphology	4897	NRCAM	OMIM:619833
HP:0000534	Abnormal eyebrow morphology	1788	DNMT3A	ORPHA:404443
HP:0000534	Abnormal eyebrow morphology	1788	DNMT3A	OMIM:615879
HP:0000534	Abnormal eyebrow morphology	10479	SLC9A6	OMIM:300243
HP:0000534	Abnormal eyebrow morphology	10479	SLC9A6	ORPHA:85278
HP:0000534	Abnormal eyebrow morphology	1278	COL1A2	ORPHA:230851
HP:0000534	Abnormal eyebrow morphology	526	ATP6V1B2	OMIM:616455
HP:0000534	Abnormal eyebrow morphology	526	ATP6V1B2	ORPHA:3473
HP:0000534	Abnormal eyebrow morphology	3764	KCNJ8	ORPHA:1517
HP:0000534	Abnormal eyebrow morphology	10060	ABCC9	ORPHA:1517
HP:0000534	Abnormal eyebrow morphology	57082	KNL1	OMIM:604321
HP:0000534	Abnormal eyebrow morphology	29957	SLC25A24	ORPHA:2963
HP:0000534	Abnormal eyebrow morphology	57492	ARID1B	OMIM:135900
HP:0000534	Abnormal eyebrow morphology	57492	ARID1B	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	5119	CHMP1A	OMIM:614961
HP:0000534	Abnormal eyebrow morphology	4853	NOTCH2	OMIM:102500
HP:0000534	Abnormal eyebrow morphology	4853	NOTCH2	ORPHA:955
HP:0000534	Abnormal eyebrow morphology	55699	IARS2	ORPHA:436174
HP:0000534	Abnormal eyebrow morphology	55699	IARS2	OMIM:616007
HP:0000534	Abnormal eyebrow morphology	10015	PDCD6IP	OMIM:620047
HP:0000534	Abnormal eyebrow morphology	8289	ARID1A	OMIM:614607
HP:0000534	Abnormal eyebrow morphology	8289	ARID1A	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	6598	SMARCB1	OMIM:614608
HP:0000534	Abnormal eyebrow morphology	6598	SMARCB1	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	6597	SMARCA4	OMIM:614609
HP:0000534	Abnormal eyebrow morphology	6597	SMARCA4	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	157680	VPS13B	OMIM:216550
HP:0000534	Abnormal eyebrow morphology	157680	VPS13B	ORPHA:193
HP:0000534	Abnormal eyebrow morphology	6872	TAF1	ORPHA:480907
HP:0000534	Abnormal eyebrow morphology	55148	UBR7	OMIM:619189
HP:0000534	Abnormal eyebrow morphology	23461	ABCA5	ORPHA:2026
HP:0000534	Abnormal eyebrow morphology	2783	GNB2	OMIM:619503
HP:0000534	Abnormal eyebrow morphology	3782	KCNN3	OMIM:618658
HP:0000534	Abnormal eyebrow morphology	3782	KCNN3	ORPHA:3473
HP:0000534	Abnormal eyebrow morphology	4247	MGAT2	OMIM:212066
HP:0000534	Abnormal eyebrow morphology	253738	EBF3	OMIM:617330
HP:0000534	Abnormal eyebrow morphology	1182	CLCN3	OMIM:619512
HP:0000534	Abnormal eyebrow morphology	388662	SLC6A17	ORPHA:457212
HP:0000534	Abnormal eyebrow morphology	55280	CWF19L1	OMIM:616127
HP:0000534	Abnormal eyebrow morphology	5593	PRKG2	OMIM:619636
HP:0000534	Abnormal eyebrow morphology	285362	SUMF1	ORPHA:585
HP:0000534	Abnormal eyebrow morphology	5700	PSMC1	OMIM:620071
HP:0000534	Abnormal eyebrow morphology	54828	BCAS3	OMIM:619641
HP:0000534	Abnormal eyebrow morphology	4089	SMAD4	OMIM:139210
HP:0000534	Abnormal eyebrow morphology	253959	RALGAPA1	OMIM:618797
HP:0000534	Abnormal eyebrow morphology	81887	LAS1L	ORPHA:3459
HP:0000534	Abnormal eyebrow morphology	81887	LAS1L	OMIM:309585
HP:0000534	Abnormal eyebrow morphology	6605	SMARCE1	OMIM:616938
HP:0000534	Abnormal eyebrow morphology	6605	SMARCE1	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	4208	MEF2C	ORPHA:228384
HP:0000534	Abnormal eyebrow morphology	8242	KDM5C	OMIM:300534
HP:0000534	Abnormal eyebrow morphology	23162	MAPK8IP3	OMIM:618443
HP:0000534	Abnormal eyebrow morphology	7355	SLC35A2	OMIM:300896
HP:0000534	Abnormal eyebrow morphology	54941	RNF125	OMIM:616260
HP:0000534	Abnormal eyebrow morphology	5077	PAX3	OMIM:193500
HP:0000534	Abnormal eyebrow morphology	5077	PAX3	ORPHA:896
HP:0000534	Abnormal eyebrow morphology	5077	PAX3	ORPHA:894
HP:0000534	Abnormal eyebrow morphology	79718	TBL1XR1	OMIM:616944
HP:0000534	Abnormal eyebrow morphology	51322	WAC	OMIM:616708
HP:0000534	Abnormal eyebrow morphology	51322	WAC	ORPHA:466950
HP:0000534	Abnormal eyebrow morphology	85440	DOCK7	OMIM:615859
HP:0000534	Abnormal eyebrow morphology	85440	DOCK7	ORPHA:411986
HP:0000534	Abnormal eyebrow morphology	84295	PHF6	ORPHA:127
HP:0000534	Abnormal eyebrow morphology	1642	DDB1	OMIM:619426
HP:0000534	Abnormal eyebrow morphology	3720	JARID2	OMIM:620098
HP:0000534	Abnormal eyebrow morphology	11160	ERLIN2	ORPHA:280384
HP:0000534	Abnormal eyebrow morphology	11160	ERLIN2	ORPHA:209951
HP:0000534	Abnormal eyebrow morphology	5979	RET	OMIM:162300
HP:0000534	Abnormal eyebrow morphology	6885	MAP3K7	OMIM:617137
HP:0000534	Abnormal eyebrow morphology	85358	SHANK3	OMIM:606232
HP:0000534	Abnormal eyebrow morphology	85358	SHANK3	ORPHA:48652
HP:0000534	Abnormal eyebrow morphology	57520	HECW2	OMIM:617268
HP:0000534	Abnormal eyebrow morphology	6492	SIM1	ORPHA:171829
HP:0000534	Abnormal eyebrow morphology	10588	MTHFS	OMIM:618367
HP:0000534	Abnormal eyebrow morphology	6601	SMARCC2	OMIM:618362
HP:0000534	Abnormal eyebrow morphology	6601	SMARCC2	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	6659	SOX4	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	5977	DPF2	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	5977	DPF2	OMIM:618027
HP:0000534	Abnormal eyebrow morphology	6602	SMARCD1	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	196528	ARID2	ORPHA:1465
HP:0000534	Abnormal eyebrow morphology	23258	DENND5A	OMIM:617281
HP:0000534	Abnormal eyebrow morphology	8091	HMGA2	ORPHA:94063
HP:0000534	Abnormal eyebrow morphology	23592	LEMD3	ORPHA:94063
HP:0000534	Abnormal eyebrow morphology	1105	CHD1	ORPHA:529965
HP:0000534	Abnormal eyebrow morphology	5718	PSMD12	ORPHA:529962
HP:0000534	Abnormal eyebrow morphology	2186	BPTF	ORPHA:529962
HP:0000534	Abnormal eyebrow morphology	6304	SATB1	OMIM:619229
HP:0000534	Abnormal eyebrow morphology	54551	MAGEL2	OMIM:615547
HP:0000534	Abnormal eyebrow morphology	158326	FREM1	OMIM:608980
HP:0000534	Abnormal eyebrow morphology	50801	KCNK4	OMIM:618381
HP:0000534	Abnormal eyebrow morphology	6711	SPTBN1	OMIM:619475
HP:0000534	Abnormal eyebrow morphology	2517	FUCA1	OMIM:230000
HP:0000534	Abnormal eyebrow morphology	54361	WNT4	ORPHA:247768
HP:0000534	Abnormal eyebrow morphology	50937	CDON	OMIM:614226
HP:0000534	Abnormal eyebrow morphology	3425	IDUA	ORPHA:93473
HP:0000534	Abnormal eyebrow morphology	2131	EXT1	ORPHA:502
HP:0000534	Abnormal eyebrow morphology	7227	TRPS1	ORPHA:502
HP:0000534	Abnormal eyebrow morphology	23067	SETD1B	OMIM:619000
HP:0000534	Abnormal eyebrow morphology	114928	GPRASP2	OMIM:301018
HP:0000534	Abnormal eyebrow morphology	2799	GNS	OMIM:252940
HP:0000534	Abnormal eyebrow morphology	2273	FHL1	OMIM:300280
HP:0000534	Abnormal eyebrow morphology	8241	RBM10	ORPHA:2886
HP:0000534	Abnormal eyebrow morphology	54888	NSUN2	OMIM:611091
HP:0000534	Abnormal eyebrow morphology	55023	PHIP	OMIM:617991
HP:0000534	Abnormal eyebrow morphology	2990	GUSB	OMIM:253220
HP:0000534	Abnormal eyebrow morphology	51594	NBAS	OMIM:614800
HP:0000534	Abnormal eyebrow morphology	4848	CNOT2	OMIM:618608
HP:0000534	Abnormal eyebrow morphology	26229	B3GAT3	OMIM:245600
HP:0000534	Abnormal eyebrow morphology	129285	PPP1R21	OMIM:619383
HP:0000534	Abnormal eyebrow morphology	55553	SOX6	OMIM:618971
HP:0000534	Abnormal eyebrow morphology	55331	ACER3	OMIM:617762
HP:0000534	Abnormal eyebrow morphology	8626	TP63	ORPHA:1896
HP:0000534	Abnormal eyebrow morphology	10844	TUBGCP2	OMIM:618737
HP:0000534	Abnormal eyebrow morphology	58508	KMT2C	OMIM:617768
HP:0000534	Abnormal eyebrow morphology	23241	PACS2	OMIM:618067
HP:0000534	Abnormal eyebrow morphology	7109	TRAPPC10	OMIM:620027
HP:0000534	Abnormal eyebrow morphology	170302	ARX	OMIM:300004
HP:0000534	Abnormal eyebrow morphology	10300	KATNB1	OMIM:616212
HP:0000534	Abnormal eyebrow morphology	7552	ZNF711	OMIM:300803
HP:0000534	Abnormal eyebrow morphology	51506	UFC1	OMIM:618076
HP:0000534	Abnormal eyebrow morphology	65082	VPS33A	OMIM:617303
HP:0000534	Abnormal eyebrow morphology	318	NUDT2	OMIM:619844
HP:0000534	Abnormal eyebrow morphology	2314	FLII	ORPHA:819
HP:0000534	Abnormal eyebrow morphology	23096	IQSEC2	ORPHA:819
HP:0000534	Abnormal eyebrow morphology	10743	RAI1	ORPHA:819
HP:0000534	Abnormal eyebrow morphology	10743	RAI1	OMIM:182290
HP:0000534	Abnormal eyebrow morphology	26153	KIF26A	OMIM:620156
HP:0000534	Abnormal eyebrow morphology	55870	ASH1L	OMIM:617796
HP:0000534	Abnormal eyebrow morphology	3899	AFF3	OMIM:619297
HP:0000534	Abnormal eyebrow morphology	114034	TOE1	OMIM:614969
HP:0000534	Abnormal eyebrow morphology	2260	FGFR1	ORPHA:3366
HP:0000534	Abnormal eyebrow morphology	2260	FGFR1	OMIM:190440
HP:0000534	Abnormal eyebrow morphology	83550	GPR101	ORPHA:963
HP:0000534	Abnormal eyebrow morphology	9049	AIP	ORPHA:963
HP:0000534	Abnormal eyebrow morphology	9377	COX5A	OMIM:619064
HP:0000534	Abnormal eyebrow morphology	171023	ASXL1	ORPHA:97297
HP:0000534	Abnormal eyebrow morphology	23347	SMCHD1	OMIM:603457
HP:0000534	Abnormal eyebrow morphology	10087	CERT1	OMIM:616351
HP:0000534	Abnormal eyebrow morphology	283987	HID1	OMIM:619983
HP:0000534	Abnormal eyebrow morphology	23036	ZNF292	OMIM:619188
HP:0000534	Abnormal eyebrow morphology	3340	NDST1	OMIM:616116
HP:0000534	Abnormal eyebrow morphology	84300	UQCC2	OMIM:615824
HP:0000534	Abnormal eyebrow morphology	3192	HNRNPU	ORPHA:238769
HP:0000534	Abnormal eyebrow morphology	26038	CHD5	OMIM:619873
HP:0000534	Abnormal eyebrow morphology	8558	CDK10	OMIM:617694
HP:0000534	Abnormal eyebrow morphology	5727	PTCH1	OMIM:610828
HP:0000534	Abnormal eyebrow morphology	26137	ZBTB20	OMIM:259050
HP:0000534	Abnormal eyebrow morphology	26137	ZBTB20	ORPHA:3042
HP:0000534	Abnormal eyebrow morphology	4286	MITF	OMIM:193510
HP:0000534	Abnormal eyebrow morphology	4286	MITF	ORPHA:897
HP:0000534	Abnormal eyebrow morphology	56098	PCDHGC4	OMIM:619880
HP:0000534	Abnormal eyebrow morphology	7358	UGDH	OMIM:618792
HP:0000534	Abnormal eyebrow morphology	2556	GABRA3	OMIM:301091
HP:0000534	Abnormal eyebrow morphology	7030	TFE3	OMIM:301066
HP:0000534	Abnormal eyebrow morphology	23219	FBXO28	OMIM:619777
HP:0000534	Abnormal eyebrow morphology	6509	SLC1A4	ORPHA:447997
HP:0000534	Abnormal eyebrow morphology	7546	ZIC2	OMIM:609637
HP:0000534	Abnormal eyebrow morphology	7319	UBE2A	ORPHA:163956
HP:0000534	Abnormal eyebrow morphology	7319	UBE2A	OMIM:300860
HP:0000534	Abnormal eyebrow morphology	81603	TRIM8	OMIM:619428
HP:0000534	Abnormal eyebrow morphology	6888	TALDO1	OMIM:606003
HP:0000534	Abnormal eyebrow morphology	9949	AMMECR1	OMIM:300990
HP:0000534	Abnormal eyebrow morphology	6448	SGSH	OMIM:252900
HP:0000534	Abnormal eyebrow morphology	8473	OGT	OMIM:300997
HP:0000534	Abnormal eyebrow morphology	51621	KLF13	OMIM:612001
HP:0000534	Abnormal eyebrow morphology	1139	CHRNA7	OMIM:612001
HP:0000534	Abnormal eyebrow morphology	55628	ZNF407	OMIM:619557
HP:0000534	Abnormal eyebrow morphology	3097	HIVEP2	OMIM:616977
HP:0000534	Abnormal eyebrow morphology	10982	MAPRE2	OMIM:616734
HP:0000534	Abnormal eyebrow morphology	1908	EDN3	ORPHA:897
HP:0000534	Abnormal eyebrow morphology	1910	EDNRB	ORPHA:897
HP:0000534	Abnormal eyebrow morphology	6663	SOX10	ORPHA:897
HP:0000534	Abnormal eyebrow morphology	4131	MAP1B	OMIM:618918
HP:0000534	Abnormal eyebrow morphology	64131	XYLT1	OMIM:615777
HP:0000534	Abnormal eyebrow morphology	64131	XYLT1	ORPHA:370930
HP:0000534	Abnormal eyebrow morphology	9969	MED13	OMIM:618009
HP:0000534	Abnormal eyebrow morphology	1000	CDH2	OMIM:618929
HP:0000534	Abnormal eyebrow morphology	2248	FGF3	ORPHA:90024
HP:0000534	Abnormal eyebrow morphology	6792	CDKL5	ORPHA:505652
HP:0000534	Abnormal eyebrow morphology	80185	TTI2	OMIM:615541
HP:0000534	Abnormal eyebrow morphology	80185	TTI2	ORPHA:391307
HP:0000534	Abnormal eyebrow morphology	26040	SETBP1	OMIM:616078
HP:0000534	Abnormal eyebrow morphology	10771	ZMYND11	OMIM:616083
HP:0000534	Abnormal eyebrow morphology	57003	CCDC47	OMIM:618268
HP:0000534	Abnormal eyebrow morphology	5702	PSMC3	OMIM:619354
HP:0000534	Abnormal eyebrow morphology	23556	PIGN	ORPHA:280633
HP:0000534	Abnormal eyebrow morphology	374879	ZNF699	OMIM:619488
HP:0000534	Abnormal eyebrow morphology	9508	ADAMTS3	OMIM:618154
HP:0000534	Abnormal eyebrow morphology	8450	CUL4B	ORPHA:85293
HP:0000534	Abnormal eyebrow morphology	93587	TRMT10A	ORPHA:391408
HP:0000534	Abnormal eyebrow morphology	84919	PPP1R15B	ORPHA:391408
HP:0000534	Abnormal eyebrow morphology	6591	SNAI2	ORPHA:2884
HP:0000534	Abnormal eyebrow morphology	3815	KIT	ORPHA:2884
HP:0000534	Abnormal eyebrow morphology	10020	GNE	OMIM:269921
HP:0000534	Abnormal eyebrow morphology	650	BMP2	OMIM:617877
HP:0000534	Abnormal eyebrow morphology	23133	PHF8	ORPHA:85287
HP:0000534	Abnormal eyebrow morphology	23133	PHF8	OMIM:300263
HP:0000534	Abnormal eyebrow morphology	54187	NANS	OMIM:610442
HP:0000534	Abnormal eyebrow morphology	138050	HGSNAT	OMIM:252930
HP:0000534	Abnormal eyebrow morphology	3778	KCNMA1	OMIM:618729
HP:0000534	Abnormal eyebrow morphology	64802	NMNAT1	OMIM:619260
HP:0000534	Abnormal eyebrow morphology	11141	IL1RAPL1	OMIM:300143
HP:0000534	Abnormal eyebrow morphology	284361	EMC10	OMIM:619264
HP:0000534	Abnormal eyebrow morphology	4669	NAGLU	OMIM:252920
HP:0000534	Abnormal eyebrow morphology	54345	SOX18	OMIM:137940
HP:0000534	Abnormal eyebrow morphology	54345	SOX18	ORPHA:69735
HP:0000534	Abnormal eyebrow morphology	54345	SOX18	OMIM:607823
HP:0000534	Abnormal eyebrow morphology	5317	PKP1	OMIM:604536
HP:0000534	Abnormal eyebrow morphology	4953	ODC1	OMIM:619075
HP:0000534	Abnormal eyebrow morphology	4953	ODC1	ORPHA:544488
HP:0000534	Abnormal eyebrow morphology	8313	AXIN2	OMIM:608615
HP:0000534	Abnormal eyebrow morphology	1832	DSP	ORPHA:158687
HP:0000534	Abnormal eyebrow morphology	3728	JUP	ORPHA:158687
HP:0000534	Abnormal eyebrow morphology	3845	KRAS	OMIM:615278
HP:0000534	Abnormal eyebrow morphology	673	BRAF	OMIM:115150
HP:0000534	Abnormal eyebrow morphology	8092	ALX1	OMIM:613456
HP:0000534	Abnormal eyebrow morphology	128178	EDARADD	OMIM:614941
HP:0000534	Abnormal eyebrow morphology	64682	ANAPC1	OMIM:618625
HP:0000534	Abnormal eyebrow morphology	11128	POLR3A	OMIM:264090
HP:0000534	Abnormal eyebrow morphology	80144	FRAS1	OMIM:219000
HP:0000534	Abnormal eyebrow morphology	3891	KRT85	OMIM:602032
HP:0000534	Abnormal eyebrow morphology	55806	HR	ORPHA:701
HP:0000534	Abnormal eyebrow morphology	55806	HR	OMIM:203655
HP:0000534	Abnormal eyebrow morphology	10283	CWC27	ORPHA:166035
HP:0000534	Abnormal eyebrow morphology	9401	RECQL4	OMIM:268400
HP:0000534	Abnormal eyebrow morphology	10804	GJB6	ORPHA:189
HP:0000534	Abnormal eyebrow morphology	4000	LMNA	ORPHA:740
HP:0000534	Abnormal eyebrow morphology	4000	LMNA	ORPHA:363618
HP:0000534	Abnormal eyebrow morphology	10269	ZMPSTE24	ORPHA:740
HP:0000534	Abnormal eyebrow morphology	51360	MBTPS2	OMIM:308205
HP:0000534	Abnormal eyebrow morphology	51360	MBTPS2	ORPHA:2273
HP:0000534	Abnormal eyebrow morphology	5605	MAP2K2	OMIM:615280
HP:0000534	Abnormal eyebrow morphology	84946	LTV1	OMIM:620199
HP:0000534	Abnormal eyebrow morphology	1896	EDA	OMIM:305100
HP:0000534	Abnormal eyebrow morphology	7390	UROS	OMIM:263700
HP:0000534	Abnormal eyebrow morphology	5297	PI4KA	ORPHA:436252
HP:0000534	Abnormal eyebrow morphology	57217	TTC7A	ORPHA:436252
HP:0000534	Abnormal eyebrow morphology	54101	RIPK4	OMIM:263650
HP:0000534	Abnormal eyebrow morphology	2697	GJA1	ORPHA:1010
HP:0000534	Abnormal eyebrow morphology	89910	UBE3B	ORPHA:2707
HP:0000534	Abnormal eyebrow morphology	1001	CDH3	ORPHA:1897
HP:0000534	Abnormal eyebrow morphology	4157	MC1R	ORPHA:79432
HP:0000534	Abnormal eyebrow morphology	4948	OCA2	ORPHA:79432
HP:0000534	Abnormal eyebrow morphology	7306	TYRP1	ORPHA:79433
HP:0000534	Abnormal eyebrow morphology	4644	MYO5A	OMIM:214450
HP:0000534	Abnormal eyebrow morphology	8243	SMC1A	OMIM:300590
HP:0000534	Abnormal eyebrow morphology	8243	SMC1A	OMIM:301044
HP:0000534	Abnormal eyebrow morphology	8243	SMC1A	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	10128	LRPPRC	OMIM:220111
HP:0000534	Abnormal eyebrow morphology	8294	H4C9	OMIM:619951
HP:0000534	Abnormal eyebrow morphology	50651	SLC45A1	OMIM:617532
HP:0000534	Abnormal eyebrow morphology	9853	RUSC2	OMIM:617773
HP:0000534	Abnormal eyebrow morphology	26128	KIFBP	OMIM:609460
HP:0000534	Abnormal eyebrow morphology	23334	SZT2	OMIM:615476
HP:0000534	Abnormal eyebrow morphology	6228	RPS23	OMIM:617412
HP:0000534	Abnormal eyebrow morphology	5885	RAD21	OMIM:614701
HP:0000534	Abnormal eyebrow morphology	5885	RAD21	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	55627	SMPD4	OMIM:618622
HP:0000534	Abnormal eyebrow morphology	7360	UGP2	OMIM:618744
HP:0000534	Abnormal eyebrow morphology	7021	TFAP2B	OMIM:169100
HP:0000534	Abnormal eyebrow morphology	55777	MBD5	ORPHA:228402
HP:0000534	Abnormal eyebrow morphology	55777	MBD5	OMIM:156200
HP:0000534	Abnormal eyebrow morphology	55209	SETD5	ORPHA:404440
HP:0000534	Abnormal eyebrow morphology	4125	MAN2B1	ORPHA:309282
HP:0000534	Abnormal eyebrow morphology	9578	CDC42BPB	OMIM:619841
HP:0000534	Abnormal eyebrow morphology	613	BCR	ORPHA:261330
HP:0000534	Abnormal eyebrow morphology	1399	CRKL	ORPHA:261330
HP:0000534	Abnormal eyebrow morphology	5594	MAPK1	ORPHA:261330
HP:0000534	Abnormal eyebrow morphology	5594	MAPK1	OMIM:619087
HP:0000534	Abnormal eyebrow morphology	80816	ASXL3	OMIM:615485
HP:0000534	Abnormal eyebrow morphology	80816	ASXL3	ORPHA:352577
HP:0000534	Abnormal eyebrow morphology	9442	MED27	OMIM:619286
HP:0000534	Abnormal eyebrow morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000534	Abnormal eyebrow morphology	23322	RPGRIP1L	ORPHA:1454
HP:0000534	Abnormal eyebrow morphology	4867	NPHP1	ORPHA:220497
HP:0000534	Abnormal eyebrow morphology	65062	TMEM237	ORPHA:220497
HP:0000534	Abnormal eyebrow morphology	65062	TMEM237	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	65062	TMEM237	OMIM:614424
HP:0000534	Abnormal eyebrow morphology	65062	TMEM237	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	4010	LMX1B	ORPHA:495818
HP:0000534	Abnormal eyebrow morphology	6812	STXBP1	ORPHA:495818
HP:0000534	Abnormal eyebrow morphology	55690	PACS1	OMIM:615009
HP:0000534	Abnormal eyebrow morphology	55690	PACS1	ORPHA:329224
HP:0000534	Abnormal eyebrow morphology	54806	AHI1	ORPHA:220493
HP:0000534	Abnormal eyebrow morphology	54806	AHI1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	54806	AHI1	OMIM:608629
HP:0000534	Abnormal eyebrow morphology	56623	INPP5E	ORPHA:220493
HP:0000534	Abnormal eyebrow morphology	56623	INPP5E	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	56623	INPP5E	OMIM:213300
HP:0000534	Abnormal eyebrow morphology	56623	INPP5E	ORPHA:1454
HP:0000534	Abnormal eyebrow morphology	153241	CEP120	ORPHA:220493
HP:0000534	Abnormal eyebrow morphology	153241	CEP120	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	54903	MKS1	ORPHA:220493
HP:0000534	Abnormal eyebrow morphology	54903	MKS1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	54903	MKS1	OMIM:617121
HP:0000534	Abnormal eyebrow morphology	95681	CEP41	ORPHA:220493
HP:0000534	Abnormal eyebrow morphology	95681	CEP41	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	80055	PGAP1	OMIM:615802
HP:0000534	Abnormal eyebrow morphology	23384	SPECC1L	ORPHA:1519
HP:0000534	Abnormal eyebrow morphology	23384	SPECC1L	OMIM:145420
HP:0000534	Abnormal eyebrow morphology	5818	NECTIN1	ORPHA:3253
HP:0000534	Abnormal eyebrow morphology	29072	SETD2	OMIM:620157
HP:0000534	Abnormal eyebrow morphology	29072	SETD2	OMIM:620155
HP:0000534	Abnormal eyebrow morphology	55780	ERMARD	ORPHA:75857
HP:0000534	Abnormal eyebrow morphology	10978	CLP1	OMIM:615803
HP:0000534	Abnormal eyebrow morphology	10978	CLP1	ORPHA:411493
HP:0000534	Abnormal eyebrow morphology	55636	CHD7	ORPHA:138
HP:0000534	Abnormal eyebrow morphology	9723	SEMA3E	ORPHA:138
HP:0000534	Abnormal eyebrow morphology	55650	PIGV	OMIM:239300
HP:0000534	Abnormal eyebrow morphology	55650	PIGV	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	6595	SMARCA2	OMIM:619293
HP:0000534	Abnormal eyebrow morphology	6595	SMARCA2	ORPHA:3051
HP:0000534	Abnormal eyebrow morphology	6197	RPS6KA3	OMIM:303600
HP:0000534	Abnormal eyebrow morphology	1185	CLCN6	OMIM:619173
HP:0000534	Abnormal eyebrow morphology	84992	PIGY	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	84720	PIGO	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	93210	PGAP3	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	284098	PIGW	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	27315	PGAP2	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	9487	PIGL	ORPHA:247262
HP:0000534	Abnormal eyebrow morphology	9487	PIGL	OMIM:280000
HP:0000534	Abnormal eyebrow morphology	317662	FAM149B1	OMIM:618763
HP:0000534	Abnormal eyebrow morphology	317662	FAM149B1	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	10584	COLEC10	OMIM:248340
HP:0000534	Abnormal eyebrow morphology	10584	COLEC10	ORPHA:293843
HP:0000534	Abnormal eyebrow morphology	818	CAMK2G	OMIM:618522
HP:0000534	Abnormal eyebrow morphology	9469	CHST3	OMIM:143095
HP:0000534	Abnormal eyebrow morphology	9469	CHST3	ORPHA:263463
HP:0000534	Abnormal eyebrow morphology	54880	BCOR	ORPHA:2712
HP:0000534	Abnormal eyebrow morphology	23184	MESD	OMIM:618644
HP:0000534	Abnormal eyebrow morphology	93627	TBCK	OMIM:616900
HP:0000534	Abnormal eyebrow morphology	23325	WASHC4	OMIM:615817
HP:0000534	Abnormal eyebrow morphology	9839	ZEB2	ORPHA:261552
HP:0000534	Abnormal eyebrow morphology	10815	CPLX1	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	10815	CPLX1	OMIM:194190
HP:0000534	Abnormal eyebrow morphology	10815	CPLX1	OMIM:617976
HP:0000534	Abnormal eyebrow morphology	54872	PIGG	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	7469	NELFA	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	1487	CTBP1	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	1487	CTBP1	OMIM:194190
HP:0000534	Abnormal eyebrow morphology	3954	LETM1	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	3954	LETM1	OMIM:194190
HP:0000534	Abnormal eyebrow morphology	7468	NSD2	ORPHA:280
HP:0000534	Abnormal eyebrow morphology	7468	NSD2	OMIM:194190
HP:0000534	Abnormal eyebrow morphology	7468	NSD2	OMIM:619695
HP:0000534	Abnormal eyebrow morphology	4330	MN1	OMIM:618774
HP:0000534	Abnormal eyebrow morphology	1656	DDX6	OMIM:618653
HP:0000534	Abnormal eyebrow morphology	4212	MEIS2	OMIM:600987
HP:0000534	Abnormal eyebrow morphology	26053	AUTS2	ORPHA:352490
HP:0000534	Abnormal eyebrow morphology	26053	AUTS2	OMIM:615834
HP:0000534	Abnormal eyebrow morphology	55012	PPP2R3C	OMIM:618419
HP:0000534	Abnormal eyebrow morphology	1009	CDH11	ORPHA:1299
HP:0000534	Abnormal eyebrow morphology	1954	MEGF8	OMIM:614976
HP:0000534	Abnormal eyebrow morphology	53834	FGFRL1	OMIM:194190
HP:0000534	Abnormal eyebrow morphology	79600	TCTN1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	79848	CSPP1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	51684	SUFU	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	65250	CPLANE1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	65250	CPLANE1	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	91147	TMEM67	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	91147	TMEM67	ORPHA:1454
HP:0000534	Abnormal eyebrow morphology	200894	ARL13B	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	9731	CEP104	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	219844	HYLS1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	23247	KATNIP	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	219854	TMEM218	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	9786	KIAA0586	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	79867	TCTN2	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	80776	B9D2	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	10464	PIBF1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	80210	ARMC9	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	23116	TOGARAM1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	25776	CBY1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	27077	B9D1	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	403	ARL3	ORPHA:475
HP:0000534	Abnormal eyebrow morphology	403	ARL3	OMIM:618161
HP:0000534	Abnormal eyebrow morphology	5792	PTPRF	OMIM:616001
HP:0000534	Abnormal eyebrow morphology	51633	OTUD6B	OMIM:617452
HP:0000534	Abnormal eyebrow morphology	51633	OTUD6B	ORPHA:505237
HP:0000534	Abnormal eyebrow morphology	8363	H4C11	OMIM:619759
HP:0000534	Abnormal eyebrow morphology	54499	TMCO1	OMIM:213980
HP:0000534	Abnormal eyebrow morphology	78989	COLEC11	OMIM:265050
HP:0000534	Abnormal eyebrow morphology	78989	COLEC11	ORPHA:293843
HP:0000534	Abnormal eyebrow morphology	10472	ZBTB18	OMIM:612337
HP:0000534	Abnormal eyebrow morphology	9772	TMEM94	OMIM:618316
HP:0000534	Abnormal eyebrow morphology	668	FOXL2	ORPHA:572333
HP:0000534	Abnormal eyebrow morphology	668	FOXL2	OMIM:110100
HP:0000534	Abnormal eyebrow morphology	3187	HNRNPH1	OMIM:620083
HP:0000534	Abnormal eyebrow morphology	4123	MAN2C1	OMIM:619775
HP:0000534	Abnormal eyebrow morphology	57479	PRR12	OMIM:619539
HP:0000534	Abnormal eyebrow morphology	10735	STAG2	ORPHA:521258
HP:0000534	Abnormal eyebrow morphology	23483	TGDS	ORPHA:1388
HP:0000534	Abnormal eyebrow morphology	7994	KAT6A	OMIM:616268
HP:0000534	Abnormal eyebrow morphology	25836	NIPBL	OMIM:122470
HP:0000534	Abnormal eyebrow morphology	25836	NIPBL	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	79791	FBXO31	OMIM:615979
HP:0000534	Abnormal eyebrow morphology	22856	CHSY1	OMIM:605282
HP:0000534	Abnormal eyebrow morphology	117581	TWIST2	ORPHA:1807
HP:0000534	Abnormal eyebrow morphology	8295	TRRAP	OMIM:618454
HP:0000534	Abnormal eyebrow morphology	8621	CDK13	OMIM:617360
HP:0000534	Abnormal eyebrow morphology	9427	ECEL1	OMIM:615065
HP:0000534	Abnormal eyebrow morphology	84188	FAR1	OMIM:616154
HP:0000534	Abnormal eyebrow morphology	84188	FAR1	ORPHA:438178
HP:0000534	Abnormal eyebrow morphology	2702	GJA5	OMIM:612474
HP:0000534	Abnormal eyebrow morphology	2703	GJA8	OMIM:612474
HP:0000534	Abnormal eyebrow morphology	2033	EP300	OMIM:613684
HP:0000534	Abnormal eyebrow morphology	2033	EP300	ORPHA:353284
HP:0000534	Abnormal eyebrow morphology	2033	EP300	OMIM:180849
HP:0000534	Abnormal eyebrow morphology	867	CBL	OMIM:613563
HP:0000534	Abnormal eyebrow morphology	6878	TAF6	OMIM:617126
HP:0000534	Abnormal eyebrow morphology	6664	SOX11	OMIM:615866
HP:0000534	Abnormal eyebrow morphology	157570	ESCO2	OMIM:216100
HP:0000534	Abnormal eyebrow morphology	157570	ESCO2	ORPHA:2319
HP:0000534	Abnormal eyebrow morphology	23013	SPEN	OMIM:619312
HP:0000534	Abnormal eyebrow morphology	54892	NCAPG2	OMIM:618460
HP:0000534	Abnormal eyebrow morphology	54517	PUS7	OMIM:618342
HP:0000534	Abnormal eyebrow morphology	5648	MASP1	OMIM:257920
HP:0000534	Abnormal eyebrow morphology	5648	MASP1	ORPHA:293843
HP:0000534	Abnormal eyebrow morphology	9759	HDAC4	ORPHA:1001
HP:0000534	Abnormal eyebrow morphology	9759	HDAC4	OMIM:600430
HP:0000534	Abnormal eyebrow morphology	92335	STRADA	ORPHA:500533
HP:0000534	Abnormal eyebrow morphology	79813	EHMT1	ORPHA:96147
HP:0000534	Abnormal eyebrow morphology	23028	KDM1A	OMIM:616728
HP:0000534	Abnormal eyebrow morphology	27125	AFF4	ORPHA:444077
HP:0000534	Abnormal eyebrow morphology	55869	HDAC8	OMIM:300882
HP:0000534	Abnormal eyebrow morphology	55869	HDAC8	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	1349	COX7B	OMIM:300887
HP:0000534	Abnormal eyebrow morphology	29998	BICRA	OMIM:619325
HP:0000534	Abnormal eyebrow morphology	113179	ADAT3	ORPHA:363528
HP:0000534	Abnormal eyebrow morphology	3313	HSPA9	OMIM:616854
HP:0000534	Abnormal eyebrow morphology	8085	KMT2D	ORPHA:2322
HP:0000534	Abnormal eyebrow morphology	8085	KMT2D	OMIM:147920
HP:0000534	Abnormal eyebrow morphology	7403	KDM6A	ORPHA:2322
HP:0000534	Abnormal eyebrow morphology	7403	KDM6A	OMIM:300867
HP:0000534	Abnormal eyebrow morphology	7403	KDM6A	OMIM:147920
HP:0000534	Abnormal eyebrow morphology	998	CDC42	OMIM:616737
HP:0000534	Abnormal eyebrow morphology	998	CDC42	ORPHA:487796
HP:0000534	Abnormal eyebrow morphology	9126	SMC3	OMIM:610759
HP:0000534	Abnormal eyebrow morphology	9126	SMC3	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	4297	KMT2A	OMIM:605130
HP:0000534	Abnormal eyebrow morphology	56975	FAM20C	OMIM:259775
HP:0000534	Abnormal eyebrow morphology	4784	NFIX	OMIM:602535
HP:0000534	Abnormal eyebrow morphology	23221	RHOBTB2	OMIM:618004
HP:0000534	Abnormal eyebrow morphology	4052	LTBP1	OMIM:619451
HP:0000534	Abnormal eyebrow morphology	3756	KCNH1	OMIM:135500
HP:0000534	Abnormal eyebrow morphology	11253	MAN1B1	OMIM:614202
HP:0000534	Abnormal eyebrow morphology	23511	NUP188	OMIM:618804
HP:0000534	Abnormal eyebrow morphology	26999	CYFIP2	OMIM:618008
HP:0000534	Abnormal eyebrow morphology	79583	TMEM231	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	51524	TMEM138	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	23090	ZNF423	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	80184	CEP290	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	51259	TMEM216	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	51259	TMEM216	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	57545	CC2D2A	ORPHA:2318
HP:0000534	Abnormal eyebrow morphology	57545	CC2D2A	ORPHA:1454
HP:0000534	Abnormal eyebrow morphology	22827	PUF60	ORPHA:508488
HP:0000534	Abnormal eyebrow morphology	6045	RNF2	OMIM:619460
HP:0000534	Abnormal eyebrow morphology	9496	TBX4	ORPHA:261279
HP:0000534	Abnormal eyebrow morphology	51305	KCNK9	ORPHA:166108
HP:0000534	Abnormal eyebrow morphology	51305	KCNK9	OMIM:612292
HP:0000534	Abnormal eyebrow morphology	60	ACTB	OMIM:243310
HP:0000534	Abnormal eyebrow morphology	60	ACTB	ORPHA:2995
HP:0000534	Abnormal eyebrow morphology	23476	BRD4	ORPHA:199
HP:0000534	Abnormal eyebrow morphology	10664	CTCF	ORPHA:363611
HP:0000534	Abnormal eyebrow morphology	71	ACTG1	OMIM:614583
HP:0000534	Abnormal eyebrow morphology	71	ACTG1	ORPHA:2995
HP:0000534	Abnormal eyebrow morphology	348180	CTU2	OMIM:618142
HP:0000534	Abnormal eyebrow morphology	94005	PIGS	OMIM:618143
HP:0000534	Abnormal eyebrow morphology	1387	CREBBP	OMIM:180849
HP:0000534	Abnormal eyebrow morphology	1387	CREBBP	ORPHA:353277
HP:0000534	Abnormal eyebrow morphology	7204	TRIO	OMIM:618825
HP:0000534	Abnormal eyebrow morphology	8405	SPOP	OMIM:618828
HP:0000534	Abnormal eyebrow morphology	1457	CSNK2A1	OMIM:617062
HP:0000534	Abnormal eyebrow morphology	2571	GAD1	OMIM:619124
HP:0000534	Abnormal eyebrow morphology	55617	TASP1	OMIM:618950
HP:0000534	Abnormal eyebrow morphology	8567	MADD	OMIM:619005
HP:0000534	Abnormal eyebrow morphology	6472	SHMT2	OMIM:619121
HP:0000534	Abnormal eyebrow morphology	29123	ANKRD11	ORPHA:261250
HP:0000534	Abnormal eyebrow morphology	91875	TTC5	OMIM:619244
HP:0000534	Abnormal eyebrow morphology	57688	ZSWIM6	OMIM:617865
HP:0000534	Abnormal eyebrow morphology	5500	PPP1CB	OMIM:617506
HP:0000534	Abnormal eyebrow morphology	113246	C12orf57	OMIM:218340
HP:0000534	Abnormal eyebrow morphology	55691	FRMD4A	ORPHA:466688
HP:0000534	Abnormal eyebrow morphology	55252	ASXL2	OMIM:617190
HP:0000534	Abnormal eyebrow morphology	259266	ASPM	OMIM:608716
HP:0000534	Abnormal eyebrow morphology	57020	VPS35L	OMIM:619135
HP:0000534	Abnormal eyebrow morphology	5879	RAC1	OMIM:617751
HP:0000534	Abnormal eyebrow morphology	5879	RAC1	ORPHA:500159
HP:0000534	Abnormal eyebrow morphology	10210	TOPORS	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	9851	KIAA0753	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	26123	TCTN3	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	5147	PDE6D	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	8481	OFD1	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	374654	KIF7	ORPHA:2754
HP:0000534	Abnormal eyebrow morphology	3480	IGF1R	OMIM:270450
HP:0000534	Abnormal eyebrow morphology	58499	ZNF462	OMIM:618619
HP:0000534	Abnormal eyebrow morphology	4893	NRAS	OMIM:613224
HP:0000534	Abnormal eyebrow morphology	10908	PNPLA6	OMIM:275400
HP:0000534	Abnormal eyebrow morphology	126695	KDF1	OMIM:617337
HP:0000534	Abnormal eyebrow morphology	80232	WDR26	OMIM:617616
HP:0000534	Abnormal eyebrow morphology	80232	WDR26	ORPHA:513456
HP:0000534	Abnormal eyebrow morphology	5361	PLXNA1	OMIM:619955
HP:0000534	Abnormal eyebrow morphology	57511	COG6	ORPHA:363523
HP:0000534	Abnormal eyebrow morphology	10026	PIGK	OMIM:618879
HP:0000534	Abnormal eyebrow morphology	51111	KMT5B	OMIM:617788
HP:0000534	Abnormal eyebrow morphology	112802	KRT71	ORPHA:170
HP:0000534	Abnormal eyebrow morphology	147183	KRT25	ORPHA:170
HP:0000534	Abnormal eyebrow morphology	10084	PQBP1	OMIM:309500
HP:0000534	Abnormal eyebrow morphology	3190	HNRNPK	OMIM:616580
HP:0000534	Abnormal eyebrow morphology	92255	LMBRD2	OMIM:619694
HP:0000534	Abnormal eyebrow morphology	545	ATR	OMIM:614564
HP:0000534	Abnormal eyebrow morphology	6926	TBX3	OMIM:181450
HP:0000534	Abnormal eyebrow morphology	10524	KAT5	OMIM:619103
HP:0000534	Abnormal eyebrow morphology	341208	HEPHL1	OMIM:261990
HP:0000534	Abnormal eyebrow morphology	5813	PURA	ORPHA:314655
HP:0000534	Abnormal eyebrow morphology	25	ABL1	OMIM:617602
HP:0000534	Abnormal eyebrow morphology	54840	APTX	ORPHA:1168
HP:0000534	Abnormal eyebrow morphology	92482	BBIP1	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	11020	IFT27	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	582	BBS1	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	49855	SCAPER	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	51057	WDPCP	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	27241	BBS9	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	84984	CEP19	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	22954	TRIM32	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	79738	BBS10	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	123016	TTC8	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	26160	IFT172	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	583	BBS2	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	585	BBS4	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	8195	MKKS	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	54585	LZTFL1	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	55212	BBS7	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	166379	BBS12	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	10806	SDCCAG8	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	157657	CFAP418	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	84100	ARL6	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	129880	BBS5	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	80173	IFT74	ORPHA:110
HP:0000534	Abnormal eyebrow morphology	25942	SIN3A	OMIM:613406
HP:0000534	Abnormal eyebrow morphology	118924	FRA10AC1	OMIM:620113
HP:0000534	Abnormal eyebrow morphology	51085	MLXIPL	OMIM:194050
HP:0000534	Abnormal eyebrow morphology	2006	ELN	OMIM:194050
HP:0000534	Abnormal eyebrow morphology	5587	PRKD1	OMIM:617364
HP:0000534	Abnormal eyebrow morphology	5898	RALA	OMIM:619311
HP:0000534	Abnormal eyebrow morphology	93986	FOXP2	ORPHA:209908
HP:0000534	Abnormal eyebrow morphology	5590	PRKCZ	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	2563	GABRD	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	8510	MMP23B	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	7798	LUZP1	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	6497	SKI	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	10630	PDPN	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	3339	HSPG2	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	10277	UBE4B	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	8514	KCNAB2	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	63976	PRDM16	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	54897	CASZ1	ORPHA:1606
HP:0000534	Abnormal eyebrow morphology	23389	MED13L	ORPHA:369891
HP:0000534	Abnormal eyebrow morphology	80781	COL18A1	OMIM:267750
HP:0000534	Abnormal eyebrow morphology	55027	HEATR3	OMIM:620072
HP:0000534	Abnormal eyebrow morphology	6857	SYT1	ORPHA:522077
HP:0000534	Abnormal eyebrow morphology	26173	INTS1	OMIM:618571
HP:0000534	Abnormal eyebrow morphology	83696	TRAPPC9	ORPHA:352530
HP:0000534	Abnormal eyebrow morphology	10522	DEAF1	OMIM:615828
HP:0000534	Abnormal eyebrow morphology	23097	CDK19	OMIM:618916
HP:0000534	Abnormal eyebrow morphology	6868	ADAM17	ORPHA:294023
HP:0000534	Abnormal eyebrow morphology	1956	EGFR	ORPHA:294023
HP:0000534	Abnormal eyebrow morphology	4094	MAF	OMIM:601088
HP:0000534	Abnormal eyebrow morphology	473	RERE	ORPHA:494344
HP:0000534	Abnormal eyebrow morphology	473	RERE	OMIM:616975
HP:0000534	Abnormal eyebrow morphology	5422	POLA1	OMIM:301220
HP:0000534	Abnormal eyebrow morphology	8925	HERC1	ORPHA:457359
HP:0000534	Abnormal eyebrow morphology	55621	TRMT1	OMIM:618302
HP:0000534	Abnormal eyebrow morphology	1984	EIF5A	OMIM:619376
HP:0000534	Abnormal eyebrow morphology	29920	PYCR2	ORPHA:481152
HP:0000534	Abnormal eyebrow morphology	6651	SON	OMIM:617140
HP:0000534	Abnormal eyebrow morphology	25871	NEPRO	OMIM:618853
HP:0000534	Abnormal eyebrow morphology	55343	SLC35C1	ORPHA:99843
HP:0000534	Abnormal eyebrow morphology	4081	MAB21L1	OMIM:618479
HP:0000534	Abnormal eyebrow morphology	6925	TCF4	OMIM:610954
HP:0000534	Abnormal eyebrow morphology	6477	SIAH1	OMIM:619314
HP:0000534	Abnormal eyebrow morphology	5934	RBL2	OMIM:619690
HP:0000534	Abnormal eyebrow morphology	83999	KREMEN1	OMIM:617392
HP:0000534	Abnormal eyebrow morphology	8812	CCNK	OMIM:618147
HP:0000534	Abnormal eyebrow morphology	165	AEBP1	OMIM:618000
HP:0000534	Abnormal eyebrow morphology	10274	STAG1	OMIM:617635
HP:0000534	Abnormal eyebrow morphology	10274	STAG1	ORPHA:502434
HP:0000534	Abnormal eyebrow morphology	79574	EPS8L3	OMIM:612841
HP:0000534	Abnormal eyebrow morphology	773	CACNA1A	ORPHA:2131
HP:0000534	Abnormal eyebrow morphology	6507	SLC1A3	ORPHA:2131
HP:0000534	Abnormal eyebrow morphology	477	ATP1A2	ORPHA:2131
HP:0000534	Abnormal eyebrow morphology	478	ATP1A3	ORPHA:2131
HP:0000534	Abnormal eyebrow morphology	5189	PEX1	ORPHA:3220
HP:0000534	Abnormal eyebrow morphology	5190	PEX6	ORPHA:3220
HP:0000534	Abnormal eyebrow morphology	64919	BCL11B	OMIM:618092
HP:0000534	Abnormal eyebrow morphology	8318	CDC45	OMIM:617063
HP:0000534	Abnormal eyebrow morphology	23030	KDM4B	OMIM:619320
HP:0000534	Abnormal eyebrow morphology	10157	AASS	ORPHA:2203
HP:0000534	Abnormal eyebrow morphology	22907	DHX30	OMIM:617804
HP:0000534	Abnormal eyebrow morphology	7528	YY1	ORPHA:506358
HP:0000534	Abnormal eyebrow morphology	7528	YY1	OMIM:617557
HP:0000534	Abnormal eyebrow morphology	147495	APCDD1	OMIM:605389
HP:0000534	Abnormal eyebrow morphology	147495	APCDD1	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	8216	LZTR1	OMIM:616564
HP:0000534	Abnormal eyebrow morphology	8216	LZTR1	OMIM:605275
HP:0000534	Abnormal eyebrow morphology	60529	ALX4	OMIM:613451
HP:0000534	Abnormal eyebrow morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000534	Abnormal eyebrow morphology	2972	BRF1	OMIM:616202
HP:0000534	Abnormal eyebrow morphology	2972	BRF1	ORPHA:444072
HP:0000534	Abnormal eyebrow morphology	57539	WDR35	OMIM:613610
HP:0000534	Abnormal eyebrow morphology	5894	RAF1	OMIM:611553
HP:0000534	Abnormal eyebrow morphology	79650	USB1	OMIM:604173
HP:0000534	Abnormal eyebrow morphology	2706	GJB2	OMIM:602540
HP:0000534	Abnormal eyebrow morphology	2706	GJB2	ORPHA:477
HP:0000534	Abnormal eyebrow morphology	2706	GJB2	OMIM:148210
HP:0000534	Abnormal eyebrow morphology	267010	RNU12	OMIM:603116
HP:0000534	Abnormal eyebrow morphology	116931	MED12L	OMIM:618872
HP:0000534	Abnormal eyebrow morphology	3020	H3-3A	OMIM:619720
HP:0000534	Abnormal eyebrow morphology	1825	DSC3	OMIM:613102
HP:0000534	Abnormal eyebrow morphology	3872	KRT17	OMIM:167210
HP:0000534	Abnormal eyebrow morphology	9076	CLDN1	ORPHA:59303
HP:0000534	Abnormal eyebrow morphology	9076	CLDN1	OMIM:607626
HP:0000534	Abnormal eyebrow morphology	79158	GNPTAB	OMIM:252500
HP:0000534	Abnormal eyebrow morphology	6904	TBCD	ORPHA:496641
HP:0000534	Abnormal eyebrow morphology	6904	TBCD	OMIM:617193
HP:0000534	Abnormal eyebrow morphology	16	AARS1	OMIM:619691
HP:0000534	Abnormal eyebrow morphology	6023	RMRP	ORPHA:175
HP:0000534	Abnormal eyebrow morphology	6023	RMRP	OMIM:250250
HP:0000534	Abnormal eyebrow morphology	64324	NSD1	OMIM:117550
HP:0000534	Abnormal eyebrow morphology	54453	RIN2	OMIM:613075
HP:0000534	Abnormal eyebrow morphology	4141	MARS1	OMIM:619692
HP:0000534	Abnormal eyebrow morphology	8260	NAA10	OMIM:300855
HP:0000534	Abnormal eyebrow morphology	10265	IRX5	OMIM:611174
HP:0000534	Abnormal eyebrow morphology	81857	MED25	ORPHA:464738
HP:0000534	Abnormal eyebrow morphology	1801	DPH1	OMIM:616901
HP:0000534	Abnormal eyebrow morphology	1801	DPH1	ORPHA:459061
HP:0000534	Abnormal eyebrow morphology	22845	DOLK	OMIM:610768
HP:0000534	Abnormal eyebrow morphology	80326	WNT10A	OMIM:257980
HP:0000534	Abnormal eyebrow morphology	80326	WNT10A	OMIM:150400
HP:0000534	Abnormal eyebrow morphology	6768	ST14	OMIM:602400
HP:0000534	Abnormal eyebrow morphology	7286	TUFT1	OMIM:607655
HP:0000534	Abnormal eyebrow morphology	1301	COL11A1	ORPHA:560
HP:0000534	Abnormal eyebrow morphology	9896	FIG4	ORPHA:3472
HP:0000534	Abnormal eyebrow morphology	9896	FIG4	OMIM:216340
HP:0000534	Abnormal eyebrow morphology	55697	VAC14	ORPHA:3472
HP:0000534	Abnormal eyebrow morphology	10682	EBP	ORPHA:35173
HP:0000534	Abnormal eyebrow morphology	10682	EBP	OMIM:302960
HP:0000534	Abnormal eyebrow morphology	8550	MAPKAPK5	OMIM:619869
HP:0000534	Abnormal eyebrow morphology	55210	ATAD3A	OMIM:618810
HP:0000534	Abnormal eyebrow morphology	200734	SPRED2	OMIM:619745
HP:0000534	Abnormal eyebrow morphology	9419	CRIPT	OMIM:615789
HP:0000534	Abnormal eyebrow morphology	55623	THUMPD1	OMIM:619989
HP:0000534	Abnormal eyebrow morphology	374393	FAM111B	OMIM:615704
HP:0000534	Abnormal eyebrow morphology	6234	RPS28	OMIM:606164
HP:0000534	Abnormal eyebrow morphology	11285	B4GALT7	ORPHA:75496
HP:0000534	Abnormal eyebrow morphology	6611	SMS	ORPHA:3063
HP:0000534	Abnormal eyebrow morphology	6611	SMS	OMIM:309583
HP:0000534	Abnormal eyebrow morphology	200879	LIPH	OMIM:604379
HP:0000534	Abnormal eyebrow morphology	200879	LIPH	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	7737	RNF113A	OMIM:300953
HP:0000534	Abnormal eyebrow morphology	4035	LRP1	OMIM:604093
HP:0000534	Abnormal eyebrow morphology	3675	ITGA3	OMIM:614748
HP:0000534	Abnormal eyebrow morphology	10913	EDAR	OMIM:129490
HP:0000534	Abnormal eyebrow morphology	10913	EDAR	OMIM:224900
HP:0000534	Abnormal eyebrow morphology	4047	LSS	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	6144	RPL21	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	147409	DSG4	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	147409	DSG4	OMIM:607903
HP:0000534	Abnormal eyebrow morphology	6635	SNRPE	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	10161	LPAR6	ORPHA:55654
HP:0000534	Abnormal eyebrow morphology	10161	LPAR6	OMIM:278150
HP:0000534	Abnormal eyebrow morphology	51611	DPH5	OMIM:620070
HP:0000534	Abnormal eyebrow morphology	10651	MTX2	OMIM:619127
HP:0000534	Abnormal eyebrow morphology	25959	KANK2	OMIM:616099
HP:0000534	Abnormal eyebrow morphology	11005	SPINK5	OMIM:256500
HP:0000534	Abnormal eyebrow morphology	11005	SPINK5	ORPHA:634
HP:0000534	Abnormal eyebrow morphology	54676	GTPBP2	OMIM:617988
HP:0000534	Abnormal eyebrow morphology	79971	WLS	OMIM:619648
HP:0000534	Abnormal eyebrow morphology	10430	TMEM147	OMIM:620075
HP:0000534	Abnormal eyebrow morphology	7480	WNT10B	OMIM:617073
HP:0000534	Abnormal eyebrow morphology	9968	MED12	OMIM:300895
HP:0000534	Abnormal eyebrow morphology	4781	NFIB	OMIM:618286
HP:0000534	Abnormal eyebrow morphology	4763	NF1	ORPHA:139474
HP:0000534	Abnormal eyebrow morphology	1748	DLX4	OMIM:616788
HP:0000534	Abnormal eyebrow morphology	84168	ANTXR1	OMIM:230740
HP:0000534	Abnormal eyebrow morphology	84168	ANTXR1	ORPHA:2067
HP:0000534	Abnormal eyebrow morphology	8815	BANF1	OMIM:614008
HP:0000534	Abnormal eyebrow morphology	51574	LARP7	ORPHA:319671
HP:0000534	Abnormal eyebrow morphology	121391	KRT74	OMIM:614929
HP:0000534	Abnormal eyebrow morphology	120766137	HRURF	OMIM:146550
HP:0000534	Abnormal eyebrow morphology	6655	SOS2	OMIM:616559
HP:0000534	Abnormal eyebrow morphology	6654	SOS1	OMIM:610733
HP:0000534	Abnormal eyebrow morphology	5396	PRRX1	ORPHA:990
HP:0000534	Abnormal eyebrow morphology	5015	OTX2	ORPHA:990
HP:0000534	Abnormal eyebrow morphology	3039	HBA1	ORPHA:98791
HP:0000534	Abnormal eyebrow morphology	3040	HBA2	ORPHA:98791
HP:0000534	Abnormal eyebrow morphology	134218	DNAJC21	OMIM:617052
HP:0000534	Abnormal eyebrow morphology	5116	PCNT	ORPHA:2637
HP:0000534	Abnormal eyebrow morphology	5604	MAP2K1	ORPHA:1340
HP:0000534	Abnormal eyebrow morphology	3981	LIG4	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	5896	RAG1	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	5897	RAG2	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	64421	DCLRE1C	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	100	ADA	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	3575	IL7R	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	3561	IL2RG	ORPHA:39041
HP:0000534	Abnormal eyebrow morphology	80067	DCAF17	ORPHA:3464
HP:0000534	Abnormal eyebrow morphology	197	AHSG	ORPHA:2850
HP:0000534	Abnormal eyebrow morphology	3694	ITGB6	ORPHA:2850
HP:0000534	Abnormal eyebrow morphology	10262	SF3B4	ORPHA:245
HP:0000534	Abnormal eyebrow morphology	1281	COL3A1	ORPHA:286
HP:0000534	Abnormal eyebrow morphology	60401	EDA2R	ORPHA:181
HP:0000534	Abnormal eyebrow morphology	8036	SHOC2	ORPHA:2701
HP:0000534	Abnormal eyebrow morphology	2313	FLI1	ORPHA:2308
HP:0000534	Abnormal eyebrow morphology	151516	ASPRV1	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	242	ALOX12B	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	126410	CYP4F22	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	6820	SULT2B1	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	26154	ABCA12	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	643418	LIPN	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	59344	ALOXE3	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	348938	NIPAL4	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	121214	SDR9C7	ORPHA:313
HP:0000534	Abnormal eyebrow morphology	7051	TGM1	ORPHA:313
HP:0000537	Epicanthus inversus	668	FOXL2	OMIM:110100
HP:0000537	Epicanthus inversus	668	FOXL2	ORPHA:572333
HP:0000537	Epicanthus inversus	78989	COLEC11	OMIM:265050
HP:0000537	Epicanthus inversus	78989	COLEC11	ORPHA:293843
HP:0000537	Epicanthus inversus	1457	CSNK2A1	OMIM:617062
HP:0000537	Epicanthus inversus	253738	EBF3	OMIM:617330
HP:0000537	Epicanthus inversus	9578	CDC42BPB	OMIM:619841
HP:0000537	Epicanthus inversus	23522	KAT6B	OMIM:603736
HP:0000537	Epicanthus inversus	54903	MKS1	OMIM:249000
HP:0000537	Epicanthus inversus	10584	COLEC10	OMIM:248340
HP:0000537	Epicanthus inversus	10584	COLEC10	ORPHA:293843
HP:0000537	Epicanthus inversus	5190	PEX6	OMIM:614862
HP:0000537	Epicanthus inversus	10736	SIX2	ORPHA:488437
HP:0000537	Epicanthus inversus	5648	MASP1	OMIM:257920
HP:0000537	Epicanthus inversus	5648	MASP1	ORPHA:293843
HP:0000537	Epicanthus inversus	4659	PPP1R12A	OMIM:618820
HP:0000537	Epicanthus inversus	1642	DDB1	OMIM:619426
HP:0000537	Epicanthus inversus	84570	COL25A1	ORPHA:91411
HP:0000537	Epicanthus inversus	79776	ZFHX4	ORPHA:91411
HP:0000537	Epicanthus inversus	10075	HUWE1	OMIM:309590
HP:0000538	Pseudopapilledema	2625	GATA3	OMIM:146255
HP:0000538	Pseudopapilledema	114548	NLRP3	ORPHA:1451
HP:0000538	Pseudopapilledema	5080	PAX6	ORPHA:137902
HP:0000539	Abnormality of refraction	7528	YY1	ORPHA:506358
HP:0000539	Abnormality of refraction	778	CACNA1F	OMIM:300476
HP:0000539	Abnormality of refraction	778	CACNA1F	ORPHA:178333
HP:0000539	Abnormality of refraction	778	CACNA1F	OMIM:300600
HP:0000539	Abnormality of refraction	8036	SHOC2	OMIM:607721
HP:0000539	Abnormality of refraction	5076	PAX2	ORPHA:97362
HP:0000539	Abnormality of refraction	5087	PBX1	ORPHA:97362
HP:0000539	Abnormality of refraction	23394	ADNP	ORPHA:404448
HP:0000539	Abnormality of refraction	23394	ADNP	OMIM:615873
HP:0000539	Abnormality of refraction	4099	MAG	OMIM:616680
HP:0000539	Abnormality of refraction	4099	MAG	ORPHA:459056
HP:0000539	Abnormality of refraction	51256	TBC1D7	OMIM:248000
HP:0000539	Abnormality of refraction	9759	HDAC4	OMIM:619797
HP:0000539	Abnormality of refraction	30000	TNPO2	OMIM:619556
HP:0000539	Abnormality of refraction	9158	FIBP	ORPHA:500095
HP:0000539	Abnormality of refraction	1859	DYRK1A	ORPHA:268261
HP:0000539	Abnormality of refraction	1859	DYRK1A	ORPHA:464311
HP:0000539	Abnormality of refraction	23241	PACS2	OMIM:618067
HP:0000539	Abnormality of refraction	10765	KDM5B	OMIM:618109
HP:0000539	Abnormality of refraction	64116	SLC39A8	OMIM:616721
HP:0000539	Abnormality of refraction	64116	SLC39A8	ORPHA:468699
HP:0000539	Abnormality of refraction	7299	TYR	OMIM:203100
HP:0000539	Abnormality of refraction	406960	MIR184	OMIM:614303
HP:0000539	Abnormality of refraction	3008	H1-4	OMIM:617537
HP:0000539	Abnormality of refraction	7003	TEAD1	OMIM:108985
HP:0000539	Abnormality of refraction	118987	PDZD8	OMIM:620021
HP:0000539	Abnormality of refraction	1299	COL9A3	OMIM:620022
HP:0000539	Abnormality of refraction	1299	COL9A3	ORPHA:250984
HP:0000539	Abnormality of refraction	84570	COL25A1	ORPHA:91411
HP:0000539	Abnormality of refraction	79776	ZFHX4	ORPHA:91411
HP:0000539	Abnormality of refraction	64324	NSD1	ORPHA:821
HP:0000539	Abnormality of refraction	29072	SETD2	ORPHA:821
HP:0000539	Abnormality of refraction	10297	APC2	ORPHA:821
HP:0000539	Abnormality of refraction	7045	TGFBI	ORPHA:98964
HP:0000539	Abnormality of refraction	7045	TGFBI	ORPHA:98960
HP:0000539	Abnormality of refraction	3981	LIG4	OMIM:606593
HP:0000539	Abnormality of refraction	55593	OTUD5	OMIM:301056
HP:0000539	Abnormality of refraction	4125	MAN2B1	ORPHA:309282
HP:0000539	Abnormality of refraction	5575	PRKAR1B	OMIM:619680
HP:0000539	Abnormality of refraction	146167	SLC38A8	OMIM:609218
HP:0000539	Abnormality of refraction	89910	UBE3B	OMIM:244450
HP:0000539	Abnormality of refraction	55209	SETD5	OMIM:615761
HP:0000539	Abnormality of refraction	55215	FANCI	OMIM:609053
HP:0000539	Abnormality of refraction	55215	FANCI	ORPHA:84
HP:0000539	Abnormality of refraction	4010	LMX1B	ORPHA:495818
HP:0000539	Abnormality of refraction	6812	STXBP1	ORPHA:495818
HP:0000539	Abnormality of refraction	6905	TBCE	ORPHA:2323
HP:0000539	Abnormality of refraction	10686	CLDN16	OMIM:248250
HP:0000539	Abnormality of refraction	169522	KCNV2	OMIM:610356
HP:0000539	Abnormality of refraction	5010	CLDN11	OMIM:619328
HP:0000539	Abnormality of refraction	473	RERE	ORPHA:494344
HP:0000539	Abnormality of refraction	55777	MBD5	OMIM:156200
HP:0000539	Abnormality of refraction	51360	MBTPS2	ORPHA:2273
HP:0000539	Abnormality of refraction	56915	EXOSC5	OMIM:619576
HP:0000539	Abnormality of refraction	2590	GALNT2	OMIM:618885
HP:0000539	Abnormality of refraction	57492	ARID1B	OMIM:135900
HP:0000539	Abnormality of refraction	55870	ASH1L	OMIM:617796
HP:0000539	Abnormality of refraction	2200	FBN1	OMIM:154700
HP:0000539	Abnormality of refraction	2200	FBN1	OMIM:608328
HP:0000539	Abnormality of refraction	54496	PRMT7	OMIM:617157
HP:0000539	Abnormality of refraction	92255	LMBRD2	OMIM:619694
HP:0000539	Abnormality of refraction	7275	TUB	OMIM:616188
HP:0000539	Abnormality of refraction	2072	ERCC4	OMIM:278760
HP:0000539	Abnormality of refraction	2072	ERCC4	ORPHA:84
HP:0000539	Abnormality of refraction	113189	CHST14	ORPHA:2953
HP:0000539	Abnormality of refraction	113189	CHST14	OMIM:601776
HP:0000539	Abnormality of refraction	29940	DSE	ORPHA:2953
HP:0000539	Abnormality of refraction	5119	CHMP1A	OMIM:614961
HP:0000539	Abnormality of refraction	816	CAMK2B	OMIM:617799
HP:0000539	Abnormality of refraction	30813	VSX1	OMIM:148300
HP:0000539	Abnormality of refraction	30813	VSX1	ORPHA:98973
HP:0000539	Abnormality of refraction	1108	CHD4	OMIM:617159
HP:0000539	Abnormality of refraction	91851	CHRDL1	OMIM:309300
HP:0000539	Abnormality of refraction	84100	ARL6	OMIM:209900
HP:0000539	Abnormality of refraction	79140	CCDC28B	OMIM:209900
HP:0000539	Abnormality of refraction	582	BBS1	OMIM:209900
HP:0000539	Abnormality of refraction	708	C1QBP	OMIM:617713
HP:0000539	Abnormality of refraction	672	BRCA1	ORPHA:84
HP:0000539	Abnormality of refraction	10459	MAD2L2	ORPHA:84
HP:0000539	Abnormality of refraction	7516	XRCC2	ORPHA:84
HP:0000539	Abnormality of refraction	29089	UBE2T	ORPHA:84
HP:0000539	Abnormality of refraction	675	BRCA2	ORPHA:84
HP:0000539	Abnormality of refraction	55120	FANCL	ORPHA:84
HP:0000539	Abnormality of refraction	2177	FANCD2	ORPHA:84
HP:0000539	Abnormality of refraction	2175	FANCA	ORPHA:84
HP:0000539	Abnormality of refraction	2187	FANCB	ORPHA:84
HP:0000539	Abnormality of refraction	2176	FANCC	ORPHA:84
HP:0000539	Abnormality of refraction	2178	FANCE	ORPHA:84
HP:0000539	Abnormality of refraction	2188	FANCF	ORPHA:84
HP:0000539	Abnormality of refraction	2189	FANCG	ORPHA:84
HP:0000539	Abnormality of refraction	5888	RAD51	ORPHA:84
HP:0000539	Abnormality of refraction	5889	RAD51C	ORPHA:84
HP:0000539	Abnormality of refraction	55159	RFWD3	ORPHA:84
HP:0000539	Abnormality of refraction	83990	BRIP1	ORPHA:84
HP:0000539	Abnormality of refraction	57697	FANCM	ORPHA:84
HP:0000539	Abnormality of refraction	79728	PALB2	ORPHA:84
HP:0000539	Abnormality of refraction	84464	SLX4	ORPHA:84
HP:0000539	Abnormality of refraction	9241	NOG	OMIM:186500
HP:0000539	Abnormality of refraction	222663	SCUBE3	OMIM:619184
HP:0000539	Abnormality of refraction	6045	RNF2	OMIM:619460
HP:0000539	Abnormality of refraction	9401	RECQL4	OMIM:218600
HP:0000539	Abnormality of refraction	9839	ZEB2	ORPHA:261552
HP:0000539	Abnormality of refraction	9839	ZEB2	ORPHA:261537
HP:0000539	Abnormality of refraction	372	ARCN1	OMIM:617164
HP:0000539	Abnormality of refraction	9757	KMT2B	OMIM:617284
HP:0000539	Abnormality of refraction	9757	KMT2B	OMIM:619934
HP:0000539	Abnormality of refraction	54681	P4HTM	OMIM:618493
HP:0000539	Abnormality of refraction	4761	NEUROD2	OMIM:618374
HP:0000539	Abnormality of refraction	26040	SETBP1	OMIM:616078
HP:0000539	Abnormality of refraction	57178	ZMIZ1	OMIM:618659
HP:0000539	Abnormality of refraction	23065	EMC1	OMIM:616875
HP:0000539	Abnormality of refraction	23065	EMC1	ORPHA:480898
HP:0000539	Abnormality of refraction	4591	TRIM37	OMIM:253250
HP:0000539	Abnormality of refraction	149461	CLDN19	OMIM:248190
HP:0000539	Abnormality of refraction	165	AEBP1	ORPHA:536532
HP:0000539	Abnormality of refraction	2743	GLRB	OMIM:614619
HP:0000539	Abnormality of refraction	26160	IFT172	OMIM:619471
HP:0000539	Abnormality of refraction	1798	DPAGT1	ORPHA:86309
HP:0000539	Abnormality of refraction	84265	POLR3GL	OMIM:619234
HP:0000539	Abnormality of refraction	253738	EBF3	OMIM:617330
HP:0000539	Abnormality of refraction	57498	KIDINS220	OMIM:617296
HP:0000539	Abnormality of refraction	29957	SLC25A24	ORPHA:2095
HP:0000539	Abnormality of refraction	57003	CCDC47	OMIM:618268
HP:0000539	Abnormality of refraction	134218	DNAJC21	OMIM:617052
HP:0000539	Abnormality of refraction	57545	CC2D2A	OMIM:612285
HP:0000539	Abnormality of refraction	51604	PIGT	ORPHA:369837
HP:0000539	Abnormality of refraction	4659	PPP1R12A	OMIM:618820
HP:0000539	Abnormality of refraction	8239	USP9X	ORPHA:480880
HP:0000539	Abnormality of refraction	8239	USP9X	OMIM:300968
HP:0000539	Abnormality of refraction	3098	HK1	OMIM:618547
HP:0000539	Abnormality of refraction	9091	PIGQ	OMIM:618548
HP:0000539	Abnormality of refraction	1282	COL4A1	OMIM:175780
HP:0000539	Abnormality of refraction	63895	PIEZO2	OMIM:108145
HP:0000539	Abnormality of refraction	6925	TCF4	ORPHA:2896
HP:0000539	Abnormality of refraction	6925	TCF4	OMIM:610954
HP:0000539	Abnormality of refraction	283446	MYO1H	OMIM:619482
HP:0000539	Abnormality of refraction	8314	BAP1	OMIM:619762
HP:0000539	Abnormality of refraction	388552	BLOC1S3	OMIM:614077
HP:0000539	Abnormality of refraction	29123	ANKRD11	ORPHA:261250
HP:0000539	Abnormality of refraction	4784	NFIX	OMIM:614753
HP:0000539	Abnormality of refraction	1806	DPYD	ORPHA:1675
HP:0000539	Abnormality of refraction	1806	DPYD	ORPHA:293948
HP:0000539	Abnormality of refraction	2890	GRIA1	OMIM:619927
HP:0000539	Abnormality of refraction	23261	CAMTA1	OMIM:614756
HP:0000539	Abnormality of refraction	51341	ZBTB7A	OMIM:619769
HP:0000539	Abnormality of refraction	50485	SMARCAL1	OMIM:242900
HP:0000539	Abnormality of refraction	9338	TCEAL1	OMIM:301094
HP:0000539	Abnormality of refraction	7401	CLRN1	ORPHA:231183
HP:0000539	Abnormality of refraction	22901	ARSG	ORPHA:231183
HP:0000539	Abnormality of refraction	4575	MT-TS2	ORPHA:231183
HP:0000539	Abnormality of refraction	3035	HARS1	ORPHA:231183
HP:0000539	Abnormality of refraction	84131	CEP78	ORPHA:231183
HP:0000539	Abnormality of refraction	51322	WAC	ORPHA:284169
HP:0000539	Abnormality of refraction	51322	WAC	OMIM:616708
HP:0000539	Abnormality of refraction	80267	EDEM3	OMIM:619493
HP:0000539	Abnormality of refraction	5295	PIK3R1	OMIM:269880
HP:0000539	Abnormality of refraction	81031	SLC2A10	OMIM:208050
HP:0000539	Abnormality of refraction	5528	PPP2R5D	ORPHA:457279
HP:0000539	Abnormality of refraction	387	RHOA	OMIM:618727
HP:0000539	Abnormality of refraction	7994	KAT6A	OMIM:616268
HP:0000539	Abnormality of refraction	25836	NIPBL	OMIM:122470
HP:0000539	Abnormality of refraction	1107	CHD3	OMIM:618205
HP:0000539	Abnormality of refraction	2316	FLNA	ORPHA:1826
HP:0000539	Abnormality of refraction	6885	MAP3K7	ORPHA:1826
HP:0000539	Abnormality of refraction	404672	GTF2H5	ORPHA:33364
HP:0000539	Abnormality of refraction	833	CARS1	ORPHA:33364
HP:0000539	Abnormality of refraction	2068	ERCC2	ORPHA:33364
HP:0000539	Abnormality of refraction	7737	RNF113A	ORPHA:33364
HP:0000539	Abnormality of refraction	136647	MPLKIP	ORPHA:33364
HP:0000539	Abnormality of refraction	6897	TARS1	ORPHA:33364
HP:0000539	Abnormality of refraction	2071	ERCC3	ORPHA:33364
HP:0000539	Abnormality of refraction	2961	GTF2E2	ORPHA:33364
HP:0000539	Abnormality of refraction	100151683	RNU4ATAC	ORPHA:1824
HP:0000539	Abnormality of refraction	224	ALDH3A2	OMIM:270200
HP:0000539	Abnormality of refraction	8943	AP3D1	ORPHA:54
HP:0000539	Abnormality of refraction	3845	KRAS	OMIM:600268
HP:0000539	Abnormality of refraction	55181	SMG8	OMIM:619268
HP:0000539	Abnormality of refraction	3832	KIF11	OMIM:152950
HP:0000539	Abnormality of refraction	26173	INTS1	OMIM:618571
HP:0000539	Abnormality of refraction	9181	ARHGEF2	OMIM:617523
HP:0000539	Abnormality of refraction	1297	COL9A1	OMIM:614134
HP:0000539	Abnormality of refraction	1297	COL9A1	ORPHA:250984
HP:0000539	Abnormality of refraction	1301	COL11A1	ORPHA:250984
HP:0000539	Abnormality of refraction	1298	COL9A2	ORPHA:250984
HP:0000539	Abnormality of refraction	84695	LOXL3	ORPHA:250984
HP:0000539	Abnormality of refraction	27241	BBS9	OMIM:615986
HP:0000539	Abnormality of refraction	55294	FBXW7	OMIM:620012
HP:0000539	Abnormality of refraction	6935	ZEB1	ORPHA:98973
HP:0000539	Abnormality of refraction	58495	OVOL2	ORPHA:98973
HP:0000539	Abnormality of refraction	79977	GRHL2	ORPHA:98973
HP:0000539	Abnormality of refraction	1296	COL8A2	ORPHA:98973
HP:0000539	Abnormality of refraction	57459	GATAD2B	ORPHA:363686
HP:0000539	Abnormality of refraction	4166	CHST6	ORPHA:98969
HP:0000539	Abnormality of refraction	79158	GNPTAB	OMIM:252600
HP:0000539	Abnormality of refraction	23102	TBC1D2B	ORPHA:397973
HP:0000539	Abnormality of refraction	64221	ROBO3	OMIM:607313
HP:0000539	Abnormality of refraction	4935	GPR143	OMIM:300814
HP:0000539	Abnormality of refraction	1513	CTSK	ORPHA:763
HP:0000539	Abnormality of refraction	6017	RLBP1	ORPHA:85128
HP:0000539	Abnormality of refraction	27086	FOXP1	ORPHA:391372
HP:0000539	Abnormality of refraction	5130	PCYT1A	ORPHA:85167
HP:0000539	Abnormality of refraction	4281	MID1	ORPHA:2745
HP:0000539	Abnormality of refraction	5080	PAX6	ORPHA:2334
HP:0000539	Abnormality of refraction	4157	MC1R	ORPHA:79432
HP:0000539	Abnormality of refraction	4948	OCA2	ORPHA:79432
HP:0000539	Abnormality of refraction	51085	MLXIPL	OMIM:194050
HP:0000539	Abnormality of refraction	2006	ELN	OMIM:194050
HP:0000539	Abnormality of refraction	57105	CYSLTR2	ORPHA:39044
HP:0000539	Abnormality of refraction	2776	GNAQ	ORPHA:39044
HP:0000539	Abnormality of refraction	2767	GNA11	ORPHA:39044
HP:0000539	Abnormality of refraction	23451	SF3B1	ORPHA:39044
HP:0000539	Abnormality of refraction	6095	RORA	OMIM:618060
HP:0000539	Abnormality of refraction	6535	SLC6A8	OMIM:300352
HP:0000539	Abnormality of refraction	11253	MAN1B1	ORPHA:397941
HP:0000539	Abnormality of refraction	4750	NEK1	OMIM:263520
HP:0000539	Abnormality of refraction	26128	KIFBP	OMIM:609460
HP:0000539	Abnormality of refraction	23418	CRB1	OMIM:172870
HP:0000539	Abnormality of refraction	1161	ERCC8	ORPHA:90324
HP:0000539	Abnormality of refraction	1161	ERCC8	OMIM:216400
HP:0000539	Abnormality of refraction	2074	ERCC6	ORPHA:90324
HP:0000539	Abnormality of refraction	2074	ERCC6	OMIM:133540
HP:0000539	Abnormality of refraction	57539	WDR35	OMIM:613610
HP:0000539	Abnormality of refraction	22800	RRAS2	OMIM:618624
HP:0000539	Abnormality of refraction	3190	HNRNPK	ORPHA:453504
HP:0000539	Abnormality of refraction	3190	HNRNPK	OMIM:616580
HP:0000539	Abnormality of refraction	3190	HNRNPK	ORPHA:352665
HP:0000539	Abnormality of refraction	80232	WDR26	ORPHA:513456
HP:0000539	Abnormality of refraction	116931	MED12L	OMIM:618872
HP:0000539	Abnormality of refraction	80816	ASXL3	OMIM:615485
HP:0000539	Abnormality of refraction	51506	UFC1	OMIM:618076
HP:0000539	Abnormality of refraction	55790	CSGALNACT1	OMIM:618870
HP:0000539	Abnormality of refraction	283489	CHAMP1	OMIM:616579
HP:0000539	Abnormality of refraction	10730	YME1L1	OMIM:617302
HP:0000539	Abnormality of refraction	10847	SRCAP	ORPHA:2044
HP:0000539	Abnormality of refraction	10847	SRCAP	OMIM:136140
HP:0000539	Abnormality of refraction	10847	SRCAP	OMIM:619595
HP:0000539	Abnormality of refraction	55780	ERMARD	ORPHA:75857
HP:0000539	Abnormality of refraction	10978	CLP1	OMIM:615803
HP:0000539	Abnormality of refraction	84992	PIGY	ORPHA:247262
HP:0000539	Abnormality of refraction	84720	PIGO	ORPHA:247262
HP:0000539	Abnormality of refraction	93210	PGAP3	ORPHA:247262
HP:0000539	Abnormality of refraction	284098	PIGW	ORPHA:247262
HP:0000539	Abnormality of refraction	27315	PGAP2	ORPHA:247262
HP:0000539	Abnormality of refraction	55650	PIGV	ORPHA:247262
HP:0000539	Abnormality of refraction	9487	PIGL	ORPHA:247262
HP:0000539	Abnormality of refraction	284058	KANSL1	ORPHA:363958
HP:0000539	Abnormality of refraction	284058	KANSL1	ORPHA:363965
HP:0000539	Abnormality of refraction	284058	KANSL1	OMIM:610443
HP:0000539	Abnormality of refraction	8913	CACNA1G	OMIM:618087
HP:0000539	Abnormality of refraction	80204	FBXO11	OMIM:618089
HP:0000539	Abnormality of refraction	10111	RAD50	OMIM:613078
HP:0000539	Abnormality of refraction	59341	TRPV4	OMIM:113500
HP:0000539	Abnormality of refraction	64919	BCL11B	OMIM:618092
HP:0000539	Abnormality of refraction	1656	DDX6	OMIM:618653
HP:0000539	Abnormality of refraction	790955	UQCC3	OMIM:616111
HP:0000539	Abnormality of refraction	54872	PIGG	ORPHA:488635
HP:0000539	Abnormality of refraction	2783	GNB2	OMIM:619503
HP:0000539	Abnormality of refraction	25942	SIN3A	OMIM:613406
HP:0000539	Abnormality of refraction	4053	LTBP2	OMIM:251750
HP:0000539	Abnormality of refraction	1499	CTNNB1	ORPHA:404473
HP:0000539	Abnormality of refraction	1499	CTNNB1	OMIM:615075
HP:0000539	Abnormality of refraction	167691	LCA5	OMIM:604537
HP:0000539	Abnormality of refraction	11081	KERA	OMIM:217300
HP:0000539	Abnormality of refraction	11285	B4GALT7	OMIM:130070
HP:0000539	Abnormality of refraction	7025	NR2F1	ORPHA:401777
HP:0000539	Abnormality of refraction	8493	PPM1D	OMIM:617450
HP:0000539	Abnormality of refraction	1182	CLCN3	OMIM:619512
HP:0000539	Abnormality of refraction	55773	TBC1D23	OMIM:617695
HP:0000539	Abnormality of refraction	55699	IARS2	OMIM:616007
HP:0000539	Abnormality of refraction	22859	ADGRL1	OMIM:620065
HP:0000539	Abnormality of refraction	10236	HNRNPR	OMIM:620073
HP:0000539	Abnormality of refraction	283209	PGM2L1	OMIM:620191
HP:0000539	Abnormality of refraction	79813	EHMT1	ORPHA:261652
HP:0000539	Abnormality of refraction	58508	KMT2C	ORPHA:261652
HP:0000539	Abnormality of refraction	4089	SMAD4	OMIM:139210
HP:0000539	Abnormality of refraction	7750	ZMYM2	OMIM:619522
HP:0000539	Abnormality of refraction	5159	PDGFRB	OMIM:601812
HP:0000539	Abnormality of refraction	51098	IFT52	OMIM:617102
HP:0000539	Abnormality of refraction	4849	CNOT3	OMIM:618672
HP:0000539	Abnormality of refraction	81887	LAS1L	ORPHA:3459
HP:0000539	Abnormality of refraction	55869	HDAC8	ORPHA:3459
HP:0000539	Abnormality of refraction	4308	TRPM1	ORPHA:215
HP:0000539	Abnormality of refraction	57010	CABP4	ORPHA:215
HP:0000539	Abnormality of refraction	345193	LRIT3	ORPHA:215
HP:0000539	Abnormality of refraction	93589	CACNA2D4	ORPHA:215
HP:0000539	Abnormality of refraction	2916	GRM6	ORPHA:215
HP:0000539	Abnormality of refraction	5158	PDE6B	ORPHA:215
HP:0000539	Abnormality of refraction	440435	GPR179	ORPHA:215
HP:0000539	Abnormality of refraction	6011	GRK1	ORPHA:215
HP:0000539	Abnormality of refraction	6010	RHO	ORPHA:215
HP:0000539	Abnormality of refraction	9187	SLC24A1	ORPHA:215
HP:0000539	Abnormality of refraction	6295	SAG	ORPHA:215
HP:0000539	Abnormality of refraction	2779	GNAT1	ORPHA:215
HP:0000539	Abnormality of refraction	60506	NYX	ORPHA:215
HP:0000539	Abnormality of refraction	11128	POLR3A	ORPHA:3455
HP:0000539	Abnormality of refraction	4488	MSX2	OMIM:604757
HP:0000539	Abnormality of refraction	7439	BEST1	OMIM:611809
HP:0000539	Abnormality of refraction	22926	ATF6	ORPHA:49382
HP:0000539	Abnormality of refraction	5146	PDE6C	ORPHA:49382
HP:0000539	Abnormality of refraction	6103	RPGR	ORPHA:49382
HP:0000539	Abnormality of refraction	5149	PDE6H	ORPHA:49382
HP:0000539	Abnormality of refraction	2780	GNAT2	ORPHA:49382
HP:0000539	Abnormality of refraction	1261	CNGA3	ORPHA:49382
HP:0000539	Abnormality of refraction	54714	CNGB3	ORPHA:49382
HP:0000539	Abnormality of refraction	8242	KDM5C	OMIM:300534
HP:0000539	Abnormality of refraction	9968	MED12	OMIM:300895
HP:0000539	Abnormality of refraction	55084	SOBP	OMIM:613671
HP:0000539	Abnormality of refraction	57479	PRR12	OMIM:619539
HP:0000539	Abnormality of refraction	26022	TMEM98	OMIM:615972
HP:0000539	Abnormality of refraction	63901	FAM111A	OMIM:127000
HP:0000539	Abnormality of refraction	63901	FAM111A	ORPHA:93325
HP:0000539	Abnormality of refraction	64802	NMNAT1	OMIM:608553
HP:0000539	Abnormality of refraction	5631	PRPS1	OMIM:300661
HP:0000539	Abnormality of refraction	55023	PHIP	ORPHA:589905
HP:0000539	Abnormality of refraction	55023	PHIP	OMIM:617991
HP:0000539	Abnormality of refraction	1387	CREBBP	OMIM:618332
HP:0000539	Abnormality of refraction	1387	CREBBP	ORPHA:353277
HP:0000539	Abnormality of refraction	2702	GJA5	OMIM:612474
HP:0000539	Abnormality of refraction	2703	GJA8	OMIM:612474
HP:0000539	Abnormality of refraction	10664	CTCF	OMIM:615502
HP:0000539	Abnormality of refraction	10664	CTCF	ORPHA:363611
HP:0000539	Abnormality of refraction	9230	RAB11B	OMIM:617807
HP:0000539	Abnormality of refraction	10075	HUWE1	OMIM:309590
HP:0000539	Abnormality of refraction	22827	PUF60	ORPHA:508498
HP:0000539	Abnormality of refraction	55906	ZC4H2	OMIM:301041
HP:0000539	Abnormality of refraction	2245	FGD1	OMIM:305400
HP:0000539	Abnormality of refraction	6134	RPL10	OMIM:300998
HP:0000539	Abnormality of refraction	1281	COL3A1	OMIM:618343
HP:0000539	Abnormality of refraction	23314	SATB2	ORPHA:251028
HP:0000539	Abnormality of refraction	7681	MKRN3	OMIM:176270
HP:0000539	Abnormality of refraction	3653	IPW	OMIM:176270
HP:0000539	Abnormality of refraction	54551	MAGEL2	OMIM:176270
HP:0000539	Abnormality of refraction	791114	PWRN1	OMIM:176270
HP:0000539	Abnormality of refraction	100033413	SNORD116-1	OMIM:176270
HP:0000539	Abnormality of refraction	8924	HERC2	OMIM:176270
HP:0000539	Abnormality of refraction	145624	PWAR1	OMIM:176270
HP:0000539	Abnormality of refraction	23742	NPAP1	OMIM:176270
HP:0000539	Abnormality of refraction	338433	SNORD115-1	OMIM:176270
HP:0000539	Abnormality of refraction	128869	PIGU	OMIM:618590
HP:0000539	Abnormality of refraction	7707	ZNF148	OMIM:617260
HP:0000539	Abnormality of refraction	29998	BICRA	OMIM:619325
HP:0000539	Abnormality of refraction	6651	SON	OMIM:617140
HP:0000539	Abnormality of refraction	6651	SON	ORPHA:500150
HP:0000539	Abnormality of refraction	84162	BLTP1	OMIM:617822
HP:0000539	Abnormality of refraction	2033	EP300	ORPHA:353284
HP:0000539	Abnormality of refraction	3097	HIVEP2	OMIM:616977
HP:0000539	Abnormality of refraction	57551	TAOK1	OMIM:619575
HP:0000539	Abnormality of refraction	537	ATP6AP1	OMIM:300972
HP:0000539	Abnormality of refraction	23345	SYNE1	OMIM:618484
HP:0000539	Abnormality of refraction	85358	SHANK3	ORPHA:48652
HP:0000539	Abnormality of refraction	2058	EPRS1	OMIM:617951
HP:0000539	Abnormality of refraction	201163	FLCN	OMIM:610883
HP:0000539	Abnormality of refraction	23389	MED13L	ORPHA:369891
HP:0000539	Abnormality of refraction	5351	PLOD1	ORPHA:1900
HP:0000539	Abnormality of refraction	10524	KAT5	OMIM:619103
HP:0000539	Abnormality of refraction	523	ATP6V1A	OMIM:618012
HP:0000539	Abnormality of refraction	5144	PDE4D	ORPHA:439822
HP:0000539	Abnormality of refraction	6304	SATB1	OMIM:619229
HP:0000539	Abnormality of refraction	5116	PCNT	OMIM:210720
HP:0000539	Abnormality of refraction	6638	SNRPN	ORPHA:177907
HP:0000539	Abnormality of refraction	668	FOXL2	OMIM:110100
HP:0000539	Abnormality of refraction	9851	KIAA0753	OMIM:619476
HP:0000539	Abnormality of refraction	5977	DPF2	OMIM:618027
HP:0000539	Abnormality of refraction	80152	CENPT	OMIM:618702
HP:0000539	Abnormality of refraction	6247	RS1	OMIM:312700
HP:0000539	Abnormality of refraction	2218	FKTN	OMIM:253800
HP:0000539	Abnormality of refraction	8567	MADD	OMIM:619004
HP:0000539	Abnormality of refraction	55617	TASP1	OMIM:618950
HP:0000539	Abnormality of refraction	6857	SYT1	ORPHA:522077
HP:0000539	Abnormality of refraction	79867	TCTN2	OMIM:616654
HP:0000539	Abnormality of refraction	23096	IQSEC2	OMIM:309530
HP:0000539	Abnormality of refraction	4140	MARK3	OMIM:618283
HP:0000539	Abnormality of refraction	10084	PQBP1	OMIM:309500
HP:0000539	Abnormality of refraction	29954	POMT2	OMIM:613150
HP:0000539	Abnormality of refraction	51594	NBAS	OMIM:614800
HP:0000539	Abnormality of refraction	9469	CHST3	OMIM:245600
HP:0000539	Abnormality of refraction	26229	B3GAT3	OMIM:245600
HP:0000539	Abnormality of refraction	57728	WDR19	OMIM:614378
HP:0000539	Abnormality of refraction	84148	KAT8	OMIM:618974
HP:0000539	Abnormality of refraction	7287	TULP1	OMIM:613843
HP:0000539	Abnormality of refraction	284217	LAMA1	ORPHA:370022
HP:0000539	Abnormality of refraction	3852	KRT5	ORPHA:79396
HP:0000539	Abnormality of refraction	3861	KRT14	ORPHA:79396
HP:0000539	Abnormality of refraction	875	CBS	ORPHA:394
HP:0000539	Abnormality of refraction	875	CBS	OMIM:236200
HP:0000539	Abnormality of refraction	8518	ELP1	ORPHA:1764
HP:0000539	Abnormality of refraction	1024	CDK8	OMIM:618748
HP:0000539	Abnormality of refraction	60684	TRAPPC11	OMIM:615356
HP:0000539	Abnormality of refraction	60684	TRAPPC11	ORPHA:369847
HP:0000539	Abnormality of refraction	51	ACOX1	ORPHA:2971
HP:0000539	Abnormality of refraction	79848	CSPP1	ORPHA:397715
HP:0000539	Abnormality of refraction	9786	KIAA0586	ORPHA:397715
HP:0000539	Abnormality of refraction	57165	GJC2	OMIM:608804
HP:0000539	Abnormality of refraction	55690	PACS1	OMIM:615009
HP:0000539	Abnormality of refraction	2201	FBN2	OMIM:121050
HP:0000539	Abnormality of refraction	5728	PTEN	ORPHA:2969
HP:0000539	Abnormality of refraction	5728	PTEN	ORPHA:201
HP:0000539	Abnormality of refraction	5728	PTEN	ORPHA:744
HP:0000539	Abnormality of refraction	5728	PTEN	OMIM:158350
HP:0000539	Abnormality of refraction	6660	SOX5	ORPHA:313892
HP:0000539	Abnormality of refraction	6660	SOX5	OMIM:616803
HP:0000539	Abnormality of refraction	10133	OPTN	OMIM:137760
HP:0000539	Abnormality of refraction	84572	GNPTG	OMIM:252605
HP:0000539	Abnormality of refraction	7345	UCHL1	OMIM:615491
HP:0000539	Abnormality of refraction	818	CAMK2G	OMIM:618522
HP:0000539	Abnormality of refraction	7021	TFAP2B	ORPHA:46627
HP:0000539	Abnormality of refraction	3064	HTT	OMIM:617435
HP:0000539	Abnormality of refraction	157680	VPS13B	OMIM:216550
HP:0000539	Abnormality of refraction	157680	VPS13B	ORPHA:193
HP:0000539	Abnormality of refraction	7020	TFAP2A	OMIM:113620
HP:0000539	Abnormality of refraction	652	BMP4	OMIM:607932
HP:0000539	Abnormality of refraction	652	BMP4	ORPHA:139471
HP:0000539	Abnormality of refraction	8726	EED	OMIM:617561
HP:0000539	Abnormality of refraction	23327	NEDD4L	OMIM:617201
HP:0000539	Abnormality of refraction	5813	PURA	ORPHA:438216
HP:0000539	Abnormality of refraction	64132	XYLT2	ORPHA:85194
HP:0000539	Abnormality of refraction	54888	NSUN2	ORPHA:235
HP:0000539	Abnormality of refraction	1969	EPHA2	OMIM:116600
HP:0000539	Abnormality of refraction	7337	UBE3A	OMIM:105830
HP:0000539	Abnormality of refraction	148789	B3GALNT2	ORPHA:588
HP:0000539	Abnormality of refraction	148789	B3GALNT2	OMIM:615181
HP:0000539	Abnormality of refraction	29925	GMPPB	ORPHA:588
HP:0000539	Abnormality of refraction	29925	GMPPB	ORPHA:370968
HP:0000539	Abnormality of refraction	29925	GMPPB	ORPHA:370959
HP:0000539	Abnormality of refraction	79147	FKRP	ORPHA:588
HP:0000539	Abnormality of refraction	79147	FKRP	OMIM:236670
HP:0000539	Abnormality of refraction	79147	FKRP	ORPHA:370968
HP:0000539	Abnormality of refraction	79147	FKRP	ORPHA:370959
HP:0000539	Abnormality of refraction	79147	FKRP	OMIM:613153
HP:0000539	Abnormality of refraction	9215	LARGE1	ORPHA:588
HP:0000539	Abnormality of refraction	9215	LARGE1	OMIM:236670
HP:0000539	Abnormality of refraction	9215	LARGE1	ORPHA:370968
HP:0000539	Abnormality of refraction	10585	POMT1	ORPHA:588
HP:0000539	Abnormality of refraction	10585	POMT1	OMIM:236670
HP:0000539	Abnormality of refraction	10585	POMT1	ORPHA:370968
HP:0000539	Abnormality of refraction	10585	POMT1	ORPHA:370959
HP:0000539	Abnormality of refraction	10585	POMT1	OMIM:613155
HP:0000539	Abnormality of refraction	55210	ATAD3A	ORPHA:496790
HP:0000539	Abnormality of refraction	55210	ATAD3A	OMIM:617183
HP:0000539	Abnormality of refraction	5605	MAP2K2	OMIM:615280
HP:0000539	Abnormality of refraction	5605	MAP2K2	ORPHA:1340
HP:0000539	Abnormality of refraction	6101	RP1	OMIM:180100
HP:0000539	Abnormality of refraction	4644	MYO5A	ORPHA:33445
HP:0000539	Abnormality of refraction	9533	POLR1C	OMIM:616494
HP:0000539	Abnormality of refraction	8733	GPAA1	ORPHA:529665
HP:0000539	Abnormality of refraction	8733	GPAA1	OMIM:617810
HP:0000539	Abnormality of refraction	6942	TCF20	OMIM:618430
HP:0000539	Abnormality of refraction	9772	TMEM94	OMIM:618316
HP:0000539	Abnormality of refraction	57688	ZSWIM6	OMIM:603671
HP:0000539	Abnormality of refraction	57688	ZSWIM6	ORPHA:1827
HP:0000539	Abnormality of refraction	124583	CANT1	OMIM:251450
HP:0000539	Abnormality of refraction	5373	PMM2	ORPHA:79318
HP:0000539	Abnormality of refraction	9725	TMEM63A	OMIM:618688
HP:0000539	Abnormality of refraction	4883	NPR3	OMIM:619543
HP:0000539	Abnormality of refraction	2263	FGFR2	OMIM:101200
HP:0000539	Abnormality of refraction	3479	IGF1	ORPHA:73272
HP:0000539	Abnormality of refraction	27125	AFF4	ORPHA:444077
HP:0000539	Abnormality of refraction	10397	NDRG1	OMIM:601455
HP:0000539	Abnormality of refraction	9227	LRAT	ORPHA:364055
HP:0000539	Abnormality of refraction	55812	SPATA7	ORPHA:364055
HP:0000539	Abnormality of refraction	6121	RPE65	ORPHA:364055
HP:0000539	Abnormality of refraction	9126	SMC3	OMIM:610759
HP:0000539	Abnormality of refraction	9126	SMC3	ORPHA:199
HP:0000539	Abnormality of refraction	4942	OAT	ORPHA:414
HP:0000539	Abnormality of refraction	4942	OAT	OMIM:258870
HP:0000539	Abnormality of refraction	9131	AIFM1	OMIM:300614
HP:0000539	Abnormality of refraction	3756	KCNH1	OMIM:135500
HP:0000539	Abnormality of refraction	55750	AGK	OMIM:212350
HP:0000539	Abnormality of refraction	55750	AGK	ORPHA:1369
HP:0000539	Abnormality of refraction	10483	SEC23B	ORPHA:201
HP:0000539	Abnormality of refraction	6390	SDHB	ORPHA:201
HP:0000539	Abnormality of refraction	6392	SDHD	ORPHA:201
HP:0000539	Abnormality of refraction	6391	SDHC	ORPHA:201
HP:0000539	Abnormality of refraction	207	AKT1	ORPHA:201
HP:0000539	Abnormality of refraction	207	AKT1	ORPHA:744
HP:0000539	Abnormality of refraction	207	AKT1	OMIM:615109
HP:0000539	Abnormality of refraction	205717	USF3	ORPHA:201
HP:0000539	Abnormality of refraction	5290	PIK3CA	ORPHA:201
HP:0000539	Abnormality of refraction	5290	PIK3CA	OMIM:615108
HP:0000539	Abnormality of refraction	100144748	KLLN	ORPHA:201
HP:0000539	Abnormality of refraction	9509	ADAMTS2	OMIM:225410
HP:0000539	Abnormality of refraction	4015	LOX	OMIM:617168
HP:0000539	Abnormality of refraction	92949	ADAMTSL1	ORPHA:521445
HP:0000539	Abnormality of refraction	145173	B3GLCT	OMIM:261540
HP:0000539	Abnormality of refraction	1285	COL4A3	OMIM:203780
HP:0000539	Abnormality of refraction	1285	COL4A3	OMIM:104200
HP:0000539	Abnormality of refraction	1286	COL4A4	OMIM:203780
HP:0000539	Abnormality of refraction	526	ATP6V1B2	ORPHA:79500
HP:0000539	Abnormality of refraction	1412	CRYBA2	OMIM:115900
HP:0000539	Abnormality of refraction	84197	POMK	ORPHA:370959
HP:0000539	Abnormality of refraction	22978	NT5C2	ORPHA:320396
HP:0000539	Abnormality of refraction	22978	NT5C2	OMIM:613162
HP:0000539	Abnormality of refraction	6872	TAF1	OMIM:300966
HP:0000539	Abnormality of refraction	4841	NONO	OMIM:300967
HP:0000539	Abnormality of refraction	4841	NONO	ORPHA:466791
HP:0000539	Abnormality of refraction	8318	CDC45	OMIM:617063
HP:0000539	Abnormality of refraction	1289	COL5A1	OMIM:130000
HP:0000539	Abnormality of refraction	6663	SOX10	OMIM:609136
HP:0000539	Abnormality of refraction	126792	B3GALT6	OMIM:271640
HP:0000539	Abnormality of refraction	126792	B3GALT6	ORPHA:536467
HP:0000539	Abnormality of refraction	2733	GLE1	OMIM:611890
HP:0000539	Abnormality of refraction	64131	XYLT1	ORPHA:370930
HP:0000539	Abnormality of refraction	11011	TLK2	OMIM:618050
HP:0000539	Abnormality of refraction	3030	HADHA	ORPHA:5
HP:0000539	Abnormality of refraction	129285	PPP1R21	OMIM:619383
HP:0000539	Abnormality of refraction	84168	ANTXR1	ORPHA:2067
HP:0000539	Abnormality of refraction	5167	ENPP1	ORPHA:758
HP:0000539	Abnormality of refraction	368	ABCC6	ORPHA:758
HP:0000539	Abnormality of refraction	368	ABCC6	OMIM:177850
HP:0000539	Abnormality of refraction	1462	VCAN	OMIM:143200
HP:0000539	Abnormality of refraction	673	BRAF	OMIM:115150
HP:0000539	Abnormality of refraction	673	BRAF	ORPHA:1340
HP:0000539	Abnormality of refraction	673	BRAF	OMIM:163950
HP:0000539	Abnormality of refraction	162	AP1B1	OMIM:242150
HP:0000539	Abnormality of refraction	2314	FLII	ORPHA:819
HP:0000539	Abnormality of refraction	10522	DEAF1	ORPHA:819
HP:0000539	Abnormality of refraction	6662	SOX9	OMIM:114290
HP:0000539	Abnormality of refraction	7102	TSPAN7	OMIM:300210
HP:0000539	Abnormality of refraction	546	ATRX	ORPHA:847
HP:0000539	Abnormality of refraction	1678	TIMM8A	OMIM:304700
HP:0000539	Abnormality of refraction	57531	HACE1	ORPHA:464282
HP:0000539	Abnormality of refraction	57531	HACE1	OMIM:616756
HP:0000539	Abnormality of refraction	6999	TDO2	OMIM:600627
HP:0000539	Abnormality of refraction	4853	NOTCH2	ORPHA:955
HP:0000539	Abnormality of refraction	2615	LRRC32	OMIM:619074
HP:0000539	Abnormality of refraction	5956	OPN1LW	OMIM:303700
HP:0000539	Abnormality of refraction	2652	OPN1MW	OMIM:303700
HP:0000539	Abnormality of refraction	8419	BFSP2	OMIM:611597
HP:0000539	Abnormality of refraction	1303	COL12A1	ORPHA:536516
HP:0000539	Abnormality of refraction	182	JAG1	OMIM:118450
HP:0000539	Abnormality of refraction	5832	ALDH18A1	OMIM:219150
HP:0000539	Abnormality of refraction	8573	CASK	ORPHA:163937
HP:0000539	Abnormality of refraction	117581	TWIST2	ORPHA:920
HP:0000539	Abnormality of refraction	79228	THOC6	OMIM:613680
HP:0000539	Abnormality of refraction	1413	CRYBA4	ORPHA:1377
HP:0000539	Abnormality of refraction	1409	CRYAA	ORPHA:1377
HP:0000539	Abnormality of refraction	1415	CRYBB2	ORPHA:1377
HP:0000539	Abnormality of refraction	1414	CRYBB1	ORPHA:1377
HP:0000539	Abnormality of refraction	1420	CRYGC	ORPHA:1377
HP:0000539	Abnormality of refraction	1421	CRYGD	ORPHA:1377
HP:0000539	Abnormality of refraction	9990	SLC12A6	ORPHA:1496
HP:0000539	Abnormality of refraction	51095	TRNT1	OMIM:616959
HP:0000539	Abnormality of refraction	1288	COL4A6	ORPHA:1018
HP:0000539	Abnormality of refraction	1287	COL4A5	ORPHA:1018
HP:0000539	Abnormality of refraction	1287	COL4A5	OMIM:301050
HP:0000539	Abnormality of refraction	2335	FN1	ORPHA:93315
HP:0000539	Abnormality of refraction	291	SLC25A4	ORPHA:1369
HP:0000539	Abnormality of refraction	26007	TKFC	ORPHA:1369
HP:0000539	Abnormality of refraction	23291	FBXW11	OMIM:618914
HP:0000539	Abnormality of refraction	4893	NRAS	OMIM:613224
HP:0000539	Abnormality of refraction	55033	FKBP14	OMIM:614557
HP:0000539	Abnormality of refraction	55033	FKBP14	ORPHA:300179
HP:0000539	Abnormality of refraction	64135	IFIH1	OMIM:182250
HP:0000539	Abnormality of refraction	6597	SMARCA4	ORPHA:1465
HP:0000539	Abnormality of refraction	6598	SMARCB1	ORPHA:1465
HP:0000539	Abnormality of refraction	6659	SOX4	ORPHA:1465
HP:0000539	Abnormality of refraction	8289	ARID1A	ORPHA:1465
HP:0000539	Abnormality of refraction	6601	SMARCC2	ORPHA:1465
HP:0000539	Abnormality of refraction	6602	SMARCD1	ORPHA:1465
HP:0000539	Abnormality of refraction	196528	ARID2	ORPHA:1465
HP:0000539	Abnormality of refraction	6605	SMARCE1	ORPHA:1465
HP:0000539	Abnormality of refraction	6664	SOX11	ORPHA:1465
HP:0000539	Abnormality of refraction	54974	THG1L	OMIM:618800
HP:0000539	Abnormality of refraction	5604	MAP2K1	ORPHA:1340
HP:0000539	Abnormality of refraction	5604	MAP2K1	OMIM:163950
HP:0000539	Abnormality of refraction	5718	PSMD12	ORPHA:529962
HP:0000539	Abnormality of refraction	2186	BPTF	ORPHA:529962
HP:0000539	Abnormality of refraction	8985	PLOD3	OMIM:612394
HP:0000539	Abnormality of refraction	23476	BRD4	ORPHA:199
HP:0000539	Abnormality of refraction	8243	SMC1A	ORPHA:199
HP:0000539	Abnormality of refraction	5885	RAD21	ORPHA:199
HP:0000539	Abnormality of refraction	7399	USH2A	ORPHA:231178
HP:0000539	Abnormality of refraction	79955	PDZD7	ORPHA:231178
HP:0000539	Abnormality of refraction	25861	WHRN	ORPHA:231178
HP:0000539	Abnormality of refraction	84059	ADGRV1	ORPHA:231178
HP:0000539	Abnormality of refraction	7874	USP7	ORPHA:500055
HP:0000539	Abnormality of refraction	23630	KCNE5	ORPHA:86818
HP:0000539	Abnormality of refraction	2182	ACSL4	ORPHA:86818
HP:0000539	Abnormality of refraction	9949	AMMECR1	ORPHA:86818
HP:0000539	Abnormality of refraction	1121	CHM	ORPHA:180
HP:0000539	Abnormality of refraction	54676	GTPBP2	OMIM:617988
HP:0000539	Abnormality of refraction	113246	C12orf57	OMIM:218340
HP:0000539	Abnormality of refraction	8241	RBM10	ORPHA:2886
HP:0000539	Abnormality of refraction	54802	TRIT1	OMIM:617873
HP:0000539	Abnormality of refraction	170692	ADAMTS18	OMIM:615458
HP:0000539	Abnormality of refraction	1968	EIF2S3	OMIM:300148
HP:0000539	Abnormality of refraction	157657	CFAP418	OMIM:617406
HP:0000539	Abnormality of refraction	5781	PTPN11	OMIM:163950
HP:0000539	Abnormality of refraction	6657	SOX2	ORPHA:35612
HP:0000539	Abnormality of refraction	220	ALDH1A3	ORPHA:35612
HP:0000539	Abnormality of refraction	646960	PRSS56	ORPHA:35612
HP:0000539	Abnormality of refraction	646960	PRSS56	OMIM:613517
HP:0000539	Abnormality of refraction	83552	MFRP	ORPHA:35612
HP:0000539	Abnormality of refraction	83552	MFRP	OMIM:611040
HP:0000539	Abnormality of refraction	30062	RAX	ORPHA:35612
HP:0000539	Abnormality of refraction	5015	OTX2	ORPHA:35612
HP:0000539	Abnormality of refraction	4990	SIX6	ORPHA:35612
HP:0000539	Abnormality of refraction	6023	RMRP	ORPHA:175
HP:0000539	Abnormality of refraction	8473	OGT	OMIM:300997
HP:0000539	Abnormality of refraction	83938	LRMDA	OMIM:615179
HP:0000539	Abnormality of refraction	11152	WDR45	OMIM:615179
HP:0000539	Abnormality of refraction	81857	MED25	ORPHA:464738
HP:0000539	Abnormality of refraction	81857	MED25	OMIM:616449
HP:0000539	Abnormality of refraction	6804	STX1A	ORPHA:904
HP:0000539	Abnormality of refraction	7461	CLIP2	ORPHA:904
HP:0000539	Abnormality of refraction	84277	DNAJC30	ORPHA:904
HP:0000539	Abnormality of refraction	8468	FKBP6	ORPHA:904
HP:0000539	Abnormality of refraction	5982	RFC2	ORPHA:904
HP:0000539	Abnormality of refraction	2969	GTF2I	ORPHA:904
HP:0000539	Abnormality of refraction	3984	LIMK1	ORPHA:904
HP:0000539	Abnormality of refraction	9569	GTF2IRD1	ORPHA:904
HP:0000539	Abnormality of refraction	155382	VPS37D	ORPHA:904
HP:0000539	Abnormality of refraction	155368	METTL27	ORPHA:904
HP:0000539	Abnormality of refraction	114049	BUD23	ORPHA:904
HP:0000539	Abnormality of refraction	7458	EIF4H	ORPHA:904
HP:0000539	Abnormality of refraction	84163	GTF2IRD2	ORPHA:904
HP:0000539	Abnormality of refraction	9275	BCL7B	ORPHA:904
HP:0000539	Abnormality of refraction	26608	TBL2	ORPHA:904
HP:0000539	Abnormality of refraction	653361	NCF1	ORPHA:904
HP:0000539	Abnormality of refraction	135886	TMEM270	ORPHA:904
HP:0000539	Abnormality of refraction	9031	BAZ1B	ORPHA:904
HP:0000539	Abnormality of refraction	10383	TUBB4B	OMIM:617879
HP:0000539	Abnormality of refraction	26504	CNNM4	OMIM:217080
HP:0000539	Abnormality of refraction	6533	SLC6A6	OMIM:145350
HP:0000539	Abnormality of refraction	5590	PRKCZ	ORPHA:1606
HP:0000539	Abnormality of refraction	2563	GABRD	ORPHA:1606
HP:0000539	Abnormality of refraction	23013	SPEN	ORPHA:1606
HP:0000539	Abnormality of refraction	8510	MMP23B	ORPHA:1606
HP:0000539	Abnormality of refraction	7798	LUZP1	ORPHA:1606
HP:0000539	Abnormality of refraction	6497	SKI	ORPHA:1606
HP:0000539	Abnormality of refraction	10630	PDPN	ORPHA:1606
HP:0000539	Abnormality of refraction	3339	HSPG2	ORPHA:1606
HP:0000539	Abnormality of refraction	10277	UBE4B	ORPHA:1606
HP:0000539	Abnormality of refraction	8514	KCNAB2	ORPHA:1606
HP:0000539	Abnormality of refraction	63976	PRDM16	ORPHA:1606
HP:0000539	Abnormality of refraction	54897	CASZ1	ORPHA:1606
HP:0000539	Abnormality of refraction	2248	FGF3	ORPHA:90024
HP:0000539	Abnormality of refraction	2697	GJA1	ORPHA:2710
HP:0000539	Abnormality of refraction	9333	TGM5	ORPHA:263534
HP:0000539	Abnormality of refraction	1475	CSTA	ORPHA:263534
HP:0000539	Abnormality of refraction	64072	CDH23	ORPHA:231169
HP:0000539	Abnormality of refraction	10083	USH1C	ORPHA:231169
HP:0000539	Abnormality of refraction	124590	USH1G	ORPHA:231169
HP:0000539	Abnormality of refraction	83715	ESPN	ORPHA:231169
HP:0000539	Abnormality of refraction	10518	CIB2	ORPHA:231169
HP:0000539	Abnormality of refraction	4647	MYO7A	ORPHA:231169
HP:0000539	Abnormality of refraction	65217	PCDH15	ORPHA:231169
HP:0000539	Abnormality of refraction	64801	ARV1	OMIM:617020
HP:0000539	Abnormality of refraction	57096	RPGRIP1	OMIM:613826
HP:0000539	Abnormality of refraction	112752	IFT43	ORPHA:1515
HP:0000539	Abnormality of refraction	55764	IFT122	ORPHA:1515
HP:0000539	Abnormality of refraction	10743	RAI1	ORPHA:1713
HP:0000539	Abnormality of refraction	1280	COL2A1	OMIM:271700
HP:0000539	Abnormality of refraction	1280	COL2A1	ORPHA:485
HP:0000539	Abnormality of refraction	84189	SLITRK6	OMIM:221200
HP:0000539	Abnormality of refraction	55703	POLR3B	OMIM:614381
HP:0000539	Abnormality of refraction	1605	DAG1	ORPHA:370997
HP:0000539	Abnormality of refraction	1605	DAG1	OMIM:616538
HP:0000539	Abnormality of refraction	256471	MFSD8	OMIM:616170
HP:0000539	Abnormality of refraction	57465	TBC1D24	OMIM:220500
HP:0000539	Abnormality of refraction	55610	VPS50	OMIM:619685
HP:0000539	Abnormality of refraction	54453	RIN2	ORPHA:217335
HP:0000539	Abnormality of refraction	54453	RIN2	OMIM:613075
HP:0000539	Abnormality of refraction	64412	GZF1	OMIM:617662
HP:0000539	Abnormality of refraction	123016	TTC8	OMIM:613464
HP:0000539	Abnormality of refraction	79631	EFL1	OMIM:617941
HP:0000539	Abnormality of refraction	90161	HS6ST2	OMIM:301025
HP:0000539	Abnormality of refraction	8925	HERC1	ORPHA:457359
HP:0000539	Abnormality of refraction	170691	ADAMTS17	OMIM:613195
HP:0000539	Abnormality of refraction	9364	RAB28	OMIM:615374
HP:0000539	Abnormality of refraction	10265	IRX5	OMIM:611174
HP:0000539	Abnormality of refraction	79797	ZNF408	OMIM:616469
HP:0000539	Abnormality of refraction	84146	ZNF644	OMIM:614167
HP:0000539	Abnormality of refraction	23545	ATP6V0A2	ORPHA:2834
HP:0000539	Abnormality of refraction	23545	ATP6V0A2	ORPHA:357074
HP:0000539	Abnormality of refraction	6102	RP2	OMIM:312600
HP:0000539	Abnormality of refraction	3913	LAMB2	OMIM:609049
HP:0000539	Abnormality of refraction	7276	TTR	OMIM:105210
HP:0000539	Abnormality of refraction	444	ASPH	OMIM:601552
HP:0000539	Abnormality of refraction	171023	ASXL1	ORPHA:97297
HP:0000539	Abnormality of refraction	55214	P3H2	OMIM:614292
HP:0000539	Abnormality of refraction	9997	SCO2	OMIM:608908
HP:0000539	Abnormality of refraction	201973	PRIMPOL	OMIM:615420
HP:0000539	Abnormality of refraction	1410	CRYAB	OMIM:613763
HP:0000539	Abnormality of refraction	6785	ELOVL4	OMIM:614457
HP:0000539	Abnormality of refraction	9419	CRIPT	OMIM:615789
HP:0000539	Abnormality of refraction	283375	SLC39A5	OMIM:615946
HP:0000539	Abnormality of refraction	81794	ADAMTS10	OMIM:277600
HP:0000539	Abnormality of refraction	81794	ADAMTS10	ORPHA:3449
HP:0000539	Abnormality of refraction	6611	SMS	ORPHA:3063
HP:0000539	Abnormality of refraction	6611	SMS	OMIM:309583
HP:0000539	Abnormality of refraction	2261	FGFR3	OMIM:616482
HP:0000539	Abnormality of refraction	54507	ADAMTSL4	OMIM:225200
HP:0000539	Abnormality of refraction	1349	COX7B	OMIM:309801
HP:0000539	Abnormality of refraction	3052	HCCS	OMIM:309801
HP:0000539	Abnormality of refraction	54539	NDUFB11	OMIM:309801
HP:0000539	Abnormality of refraction	10526	IPO8	OMIM:619472
HP:0000539	Abnormality of refraction	4043	LRPAP1	OMIM:615431
HP:0000539	Abnormality of refraction	92002	CCNQ	OMIM:300707
HP:0000539	Abnormality of refraction	29894	CPSF1	OMIM:618827
HP:0000539	Abnormality of refraction	83475	DOHH	OMIM:620066
HP:0000539	Abnormality of refraction	80781	COL18A1	OMIM:267750
HP:0000539	Abnormality of refraction	4036	LRP2	OMIM:222448
HP:0000539	Abnormality of refraction	51611	DPH5	OMIM:620070
HP:0000539	Abnormality of refraction	407	ARR3	OMIM:301010
HP:0000539	Abnormality of refraction	2683	B4GALT1	ORPHA:79332
HP:0000539	Abnormality of refraction	2065	ERBB3	OMIM:607598
HP:0000539	Abnormality of refraction	11107	PRDM5	ORPHA:90354
HP:0000539	Abnormality of refraction	84627	ZNF469	ORPHA:90354
HP:0000539	Abnormality of refraction	529	ATP6V1E1	ORPHA:357074
HP:0000539	Abnormality of refraction	282809	POC1B	OMIM:615973
HP:0000539	Abnormality of refraction	8974	P4HA2	OMIM:617238
HP:0000539	Abnormality of refraction	55624	POMGNT1	OMIM:613157
HP:0000539	Abnormality of refraction	4094	MAF	OMIM:610202
HP:0000539	Abnormality of refraction	285440	CYP4V2	OMIM:210370
HP:0000539	Abnormality of refraction	2742	GLRA2	OMIM:301076
HP:0000539	Abnormality of refraction	23404	EXOSC2	OMIM:617763
HP:0000539	Abnormality of refraction	23093	TTLL5	OMIM:615860
HP:0000539	Abnormality of refraction	5062	PAK2	OMIM:618458
HP:0000539	Abnormality of refraction	2202	EFEMP1	ORPHA:98977
HP:0000539	Abnormality of refraction	1545	CYP1B1	ORPHA:98977
HP:0000539	Abnormality of refraction	4653	MYOC	ORPHA:98977
HP:0000539	Abnormality of refraction	4693	NDP	OMIM:305390
HP:0000539	Abnormality of refraction	7355	SLC35A2	ORPHA:356961
HP:0000539	Abnormality of refraction	164	AP1G1	OMIM:619467
HP:0000539	Abnormality of refraction	27245	AHDC1	ORPHA:412069
HP:0000539	Abnormality of refraction	8481	OFD1	OMIM:300424
HP:0000539	Abnormality of refraction	8367	H4C5	OMIM:619950
HP:0000539	Abnormality of refraction	1302	COL11A2	ORPHA:1427
HP:0000539	Abnormality of refraction	23126	POGZ	OMIM:616364
HP:0000539	Abnormality of refraction	2784	GNB3	OMIM:617024
HP:0000539	Abnormality of refraction	5308	PITX2	OMIM:180550
HP:0000539	Abnormality of refraction	8364	H4C3	OMIM:619758
HP:0000539	Abnormality of refraction	60509	AGBL5	OMIM:617023
HP:0000539	Abnormality of refraction	83959	SLC4A11	ORPHA:293603
HP:0000539	Abnormality of refraction	1308	COL17A1	ORPHA:293381
HP:0000539	Abnormality of refraction	7407	VARS1	OMIM:617802
HP:0000539	Abnormality of refraction	7030	TFE3	OMIM:301066
HP:0000539	Abnormality of refraction	23162	MAPK8IP3	OMIM:618443
HP:0000539	Abnormality of refraction	1278	COL1A2	ORPHA:230851
HP:0000539	Abnormality of refraction	10093	ARPC4	OMIM:620141
HP:0200161	Agenesis of mandibular incisor	9775	EIF4A3	OMIM:268305
HP:0200160	Agenesis of maxillary incisor	641	BLM	OMIM:210900
HP:0200160	Agenesis of maxillary incisor	2071	ERCC3	OMIM:616390
HP:0200160	Agenesis of maxillary incisor	8260	NAA10	OMIM:309800
HP:0200160	Agenesis of maxillary incisor	54880	BCOR	OMIM:309800
HP:0200160	Agenesis of maxillary incisor	2260	FGFR1	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	4487	MSX1	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	128178	EDARADD	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	5083	PAX9	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	7341	SUMO1	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	80326	WNT10A	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	1896	EDA	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	8313	AXIN2	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	3664	IRF6	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	4040	LRP6	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	7039	TGFA	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	7480	WNT10B	ORPHA:99798
HP:0200160	Agenesis of maxillary incisor	145173	B3GLCT	OMIM:261540
HP:0200160	Agenesis of maxillary incisor	54101	RIPK4	ORPHA:1401
HP:0010753	Midline defect of mandible	2316	FLNA	OMIM:305620
HP:0010753	Midline defect of mandible	3759	KCNJ2	OMIM:170390
HP:0010753	Midline defect of mandible	9775	EIF4A3	OMIM:268305
HP:0010752	Cleft mandible	9775	EIF4A3	OMIM:268305
HP:0010751	Dimple chin	6595	SMARCA2	OMIM:619293
HP:0010751	Dimple chin	7020	TFAP2A	OMIM:113620
HP:0010751	Dimple chin	5295	PIK3R1	OMIM:269880
HP:0010751	Dimple chin	3763	KCNJ6	ORPHA:435628
HP:0010751	Dimple chin	117581	TWIST2	ORPHA:1807
HP:0010751	Dimple chin	4621	MYH3	ORPHA:2053
HP:0010751	Dimple chin	4621	MYH3	OMIM:193700
HP:0010751	Dimple chin	259232	NALCN	ORPHA:2053
HP:0010751	Dimple chin	348180	CTU2	OMIM:618142
HP:0010751	Dimple chin	860	RUNX2	ORPHA:1452
HP:0010751	Dimple chin	2146	EZH2	OMIM:277590
HP:0010751	Dimple chin	63895	PIEZO2	ORPHA:1154
HP:0010751	Dimple chin	23384	SPECC1L	ORPHA:1519
HP:0010751	Dimple chin	55636	CHD7	ORPHA:138
HP:0010751	Dimple chin	9723	SEMA3E	ORPHA:138
HP:0010751	Dimple chin	50945	TBX22	ORPHA:921
HP:0010750	Dermatochalasis	1277	COL1A1	ORPHA:287
HP:0010750	Dermatochalasis	1289	COL5A1	ORPHA:287
HP:0010750	Dermatochalasis	1290	COL5A2	ORPHA:287
HP:0010750	Dermatochalasis	4052	LTBP1	ORPHA:90349
HP:0010750	Dermatochalasis	30008	EFEMP2	ORPHA:90349
HP:0010750	Dermatochalasis	10516	FBLN5	ORPHA:90349
HP:0010750	Dermatochalasis	5293	PIK3CD	ORPHA:221139
HP:0010750	Dermatochalasis	90417	KNSTRN	ORPHA:221139
HP:0010757	Aplasia of the premaxilla	6496	SIX3	OMIM:157170
HP:0010758	Abnormality of the premaxilla	5727	PTCH1	OMIM:610828
HP:0010758	Abnormality of the premaxilla	2736	GLI2	OMIM:610829
HP:0010758	Abnormality of the premaxilla	64093	SMOC1	ORPHA:1106
HP:0010758	Abnormality of the premaxilla	6496	SIX3	OMIM:157170
HP:0010758	Abnormality of the premaxilla	78989	COLEC11	OMIM:265050
HP:0010758	Abnormality of the premaxilla	30008	EFEMP2	OMIM:614437
HP:0010758	Abnormality of the premaxilla	4784	NFIX	OMIM:602535
HP:0010758	Abnormality of the premaxilla	4893	NRAS	OMIM:137550
HP:0010758	Abnormality of the premaxilla	3265	HRAS	OMIM:137550
HP:0010758	Abnormality of the premaxilla	5824	PEX19	OMIM:614886
HP:0010759	Prominence of the premaxilla	78989	COLEC11	OMIM:265050
HP:0010759	Prominence of the premaxilla	30008	EFEMP2	OMIM:614437
HP:0010759	Prominence of the premaxilla	4784	NFIX	OMIM:602535
HP:0010759	Prominence of the premaxilla	4893	NRAS	OMIM:137550
HP:0010759	Prominence of the premaxilla	3265	HRAS	OMIM:137550
HP:0010759	Prominence of the premaxilla	5824	PEX19	OMIM:614886
HP:0010756	Aplasia/Hypoplasia of the premaxilla	5727	PTCH1	OMIM:610828
HP:0010756	Aplasia/Hypoplasia of the premaxilla	2736	GLI2	OMIM:610829
HP:0010756	Aplasia/Hypoplasia of the premaxilla	64093	SMOC1	ORPHA:1106
HP:0010756	Aplasia/Hypoplasia of the premaxilla	6496	SIX3	OMIM:157170
HP:0010754	Abnormality of the temporomandibular joint	1277	COL1A1	ORPHA:287
HP:0010754	Abnormality of the temporomandibular joint	1289	COL5A1	ORPHA:287
HP:0010754	Abnormality of the temporomandibular joint	1290	COL5A2	ORPHA:287
HP:0010754	Abnormality of the temporomandibular joint	6775	STAT4	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	3560	IL2RB	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	79722	ANKRD55	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	26191	PTPN22	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	919	CD247	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	3559	IL2RA	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	5771	PTPN2	ORPHA:85408
HP:0010754	Abnormality of the temporomandibular joint	1906	EDN1	ORPHA:137888
HP:0010754	Abnormality of the temporomandibular joint	2773	GNAI3	ORPHA:137888
HP:0010754	Abnormality of the temporomandibular joint	3908	LAMA2	ORPHA:258
HP:0010754	Abnormality of the temporomandibular joint	3423	IDS	ORPHA:217085
HP:0010754	Abnormality of the temporomandibular joint	3423	IDS	ORPHA:217093
HP:0010754	Abnormality of the temporomandibular joint	4000	LMNA	ORPHA:1662
HP:0010754	Abnormality of the temporomandibular joint	10269	ZMPSTE24	ORPHA:1662
HP:0010754	Abnormality of the temporomandibular joint	10269	ZMPSTE24	OMIM:275210
HP:0010754	Abnormality of the temporomandibular joint	5332	PLCB4	OMIM:614669
HP:0010754	Abnormality of the temporomandibular joint	10262	SF3B4	OMIM:154400
HP:0010754	Abnormality of the temporomandibular joint	23230	VPS13A	ORPHA:2388
HP:0007704	Paroxysmal involuntary eye movements	7355	SLC35A2	ORPHA:356961
HP:0007704	Paroxysmal involuntary eye movements	29968	PSAT1	ORPHA:284417
HP:0007704	Paroxysmal involuntary eye movements	8842	PROM1	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	5961	PRPH2	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	6785	ELOVL4	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	24	ABCA4	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	54714	CNGB3	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	6513	SLC2A1	OMIM:606777
HP:0007704	Paroxysmal involuntary eye movements	6513	SLC2A1	ORPHA:71277
HP:0007704	Paroxysmal involuntary eye movements	54539	NDUFB11	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	25915	NDUFAF3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	51103	NDUFAF1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	91942	NDUFAF2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	51300	TIMMDC1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4716	NDUFB10	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4723	NDUFV1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	55572	FOXRED1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	284184	NDUFAF8	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	55863	TMEM126B	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4535	MT-ND1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4537	MT-ND3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4729	NDUFV2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4694	NDUFA1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4720	NDUFS2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4724	NDUFS4	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4726	NDUFS6	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4728	NDUFS8	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4722	NDUFS3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	79133	NDUFAF5	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	126328	NDUFA11	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4709	NDUFB3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	80224	NUBPL	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	29078	NDUFAF4	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	374291	NDUFS7	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4700	NDUFA6	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4536	MT-ND2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4719	NDUFS1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4715	NDUFB9	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	84504	NKX6-2	ORPHA:527497
HP:0000540	Hypermetropia	6095	RORA	OMIM:618060
HP:0000540	Hypermetropia	7528	YY1	ORPHA:506358
HP:0000540	Hypermetropia	8036	SHOC2	OMIM:607721
HP:0000540	Hypermetropia	6535	SLC6A8	OMIM:300352
HP:0000540	Hypermetropia	11253	MAN1B1	ORPHA:397941
HP:0000540	Hypermetropia	23394	ADNP	ORPHA:404448
HP:0000540	Hypermetropia	23394	ADNP	OMIM:615873
HP:0000540	Hypermetropia	4099	MAG	OMIM:616680
HP:0000540	Hypermetropia	4099	MAG	ORPHA:459056
HP:0000540	Hypermetropia	8367	H4C5	OMIM:619950
HP:0000540	Hypermetropia	4750	NEK1	OMIM:263520
HP:0000540	Hypermetropia	23241	PACS2	OMIM:618067
HP:0000540	Hypermetropia	26128	KIFBP	OMIM:609460
HP:0000540	Hypermetropia	23418	CRB1	OMIM:172870
HP:0000540	Hypermetropia	1161	ERCC8	ORPHA:90324
HP:0000540	Hypermetropia	1161	ERCC8	OMIM:216400
HP:0000540	Hypermetropia	2074	ERCC6	ORPHA:90324
HP:0000540	Hypermetropia	2074	ERCC6	OMIM:133540
HP:0000540	Hypermetropia	57539	WDR35	OMIM:613610
HP:0000540	Hypermetropia	22800	RRAS2	OMIM:618624
HP:0000540	Hypermetropia	84570	COL25A1	ORPHA:91411
HP:0000540	Hypermetropia	79776	ZFHX4	ORPHA:91411
HP:0000540	Hypermetropia	23126	POGZ	ORPHA:468678
HP:0000540	Hypermetropia	23126	POGZ	OMIM:616364
HP:0000540	Hypermetropia	64324	NSD1	ORPHA:821
HP:0000540	Hypermetropia	64324	NSD1	OMIM:117550
HP:0000540	Hypermetropia	29072	SETD2	ORPHA:821
HP:0000540	Hypermetropia	10297	APC2	ORPHA:821
HP:0000540	Hypermetropia	55209	SETD5	ORPHA:404440
HP:0000540	Hypermetropia	3190	HNRNPK	ORPHA:453504
HP:0000540	Hypermetropia	3190	HNRNPK	OMIM:616580
HP:0000540	Hypermetropia	3190	HNRNPK	ORPHA:352665
HP:0000540	Hypermetropia	4125	MAN2B1	ORPHA:309282
HP:0000540	Hypermetropia	4784	NFIX	ORPHA:447980
HP:0000540	Hypermetropia	4784	NFIX	OMIM:614753
HP:0000540	Hypermetropia	80232	WDR26	ORPHA:513456
HP:0000540	Hypermetropia	116931	MED12L	OMIM:618872
HP:0000540	Hypermetropia	80816	ASXL3	OMIM:615485
HP:0000540	Hypermetropia	51506	UFC1	OMIM:618076
HP:0000540	Hypermetropia	55790	CSGALNACT1	OMIM:618870
HP:0000540	Hypermetropia	283489	CHAMP1	OMIM:616579
HP:0000540	Hypermetropia	10730	YME1L1	OMIM:617302
HP:0000540	Hypermetropia	10686	CLDN16	OMIM:248250
HP:0000540	Hypermetropia	10847	SRCAP	ORPHA:2044
HP:0000540	Hypermetropia	10847	SRCAP	OMIM:136140
HP:0000540	Hypermetropia	10847	SRCAP	OMIM:619595
HP:0000540	Hypermetropia	55780	ERMARD	ORPHA:75857
HP:0000540	Hypermetropia	10978	CLP1	OMIM:615803
HP:0000540	Hypermetropia	84992	PIGY	ORPHA:247262
HP:0000540	Hypermetropia	84720	PIGO	ORPHA:247262
HP:0000540	Hypermetropia	93210	PGAP3	ORPHA:247262
HP:0000540	Hypermetropia	284098	PIGW	ORPHA:247262
HP:0000540	Hypermetropia	27315	PGAP2	ORPHA:247262
HP:0000540	Hypermetropia	55650	PIGV	ORPHA:247262
HP:0000540	Hypermetropia	9487	PIGL	ORPHA:247262
HP:0000540	Hypermetropia	284058	KANSL1	ORPHA:363958
HP:0000540	Hypermetropia	284058	KANSL1	ORPHA:363965
HP:0000540	Hypermetropia	284058	KANSL1	OMIM:610443
HP:0000540	Hypermetropia	55870	ASH1L	OMIM:617796
HP:0000540	Hypermetropia	8913	CACNA1G	OMIM:618087
HP:0000540	Hypermetropia	80204	FBXO11	OMIM:618089
HP:0000540	Hypermetropia	5119	CHMP1A	OMIM:614961
HP:0000540	Hypermetropia	10111	RAD50	OMIM:613078
HP:0000540	Hypermetropia	59341	TRPV4	OMIM:113500
HP:0000540	Hypermetropia	64919	BCL11B	OMIM:618092
HP:0000540	Hypermetropia	1656	DDX6	OMIM:618653
HP:0000540	Hypermetropia	790955	UQCC3	OMIM:616111
HP:0000540	Hypermetropia	54872	PIGG	ORPHA:488635
HP:0000540	Hypermetropia	2783	GNB2	OMIM:619503
HP:0000540	Hypermetropia	25942	SIN3A	OMIM:613406
HP:0000540	Hypermetropia	4053	LTBP2	OMIM:251750
HP:0000540	Hypermetropia	1499	CTNNB1	ORPHA:404473
HP:0000540	Hypermetropia	1499	CTNNB1	OMIM:615075
HP:0000540	Hypermetropia	167691	LCA5	OMIM:604537
HP:0000540	Hypermetropia	11081	KERA	OMIM:217300
HP:0000540	Hypermetropia	11285	B4GALT7	OMIM:130070
HP:0000540	Hypermetropia	7025	NR2F1	ORPHA:401777
HP:0000540	Hypermetropia	8493	PPM1D	OMIM:617450
HP:0000540	Hypermetropia	1182	CLCN3	OMIM:619512
HP:0000540	Hypermetropia	51604	PIGT	OMIM:615398
HP:0000540	Hypermetropia	51604	PIGT	ORPHA:369837
HP:0000540	Hypermetropia	57498	KIDINS220	ORPHA:521390
HP:0000540	Hypermetropia	57498	KIDINS220	OMIM:617296
HP:0000540	Hypermetropia	55773	TBC1D23	OMIM:617695
HP:0000540	Hypermetropia	55699	IARS2	OMIM:616007
HP:0000540	Hypermetropia	8239	USP9X	ORPHA:480880
HP:0000540	Hypermetropia	8239	USP9X	OMIM:300968
HP:0000540	Hypermetropia	1282	COL4A1	OMIM:175780
HP:0000540	Hypermetropia	22859	ADGRL1	OMIM:620065
HP:0000540	Hypermetropia	1859	DYRK1A	ORPHA:464311
HP:0000540	Hypermetropia	1859	DYRK1A	ORPHA:268261
HP:0000540	Hypermetropia	10236	HNRNPR	OMIM:620073
HP:0000540	Hypermetropia	283209	PGM2L1	OMIM:620191
HP:0000540	Hypermetropia	79813	EHMT1	ORPHA:261652
HP:0000540	Hypermetropia	58508	KMT2C	ORPHA:261652
HP:0000540	Hypermetropia	4089	SMAD4	OMIM:139210
HP:0000540	Hypermetropia	7750	ZMYM2	OMIM:619522
HP:0000540	Hypermetropia	5159	PDGFRB	OMIM:601812
HP:0000540	Hypermetropia	388552	BLOC1S3	OMIM:614077
HP:0000540	Hypermetropia	51098	IFT52	OMIM:617102
HP:0000540	Hypermetropia	4849	CNOT3	OMIM:618672
HP:0000540	Hypermetropia	81887	LAS1L	ORPHA:3459
HP:0000540	Hypermetropia	55869	HDAC8	ORPHA:3459
HP:0000540	Hypermetropia	9338	TCEAL1	OMIM:301094
HP:0000540	Hypermetropia	4308	TRPM1	ORPHA:215
HP:0000540	Hypermetropia	57010	CABP4	ORPHA:215
HP:0000540	Hypermetropia	345193	LRIT3	ORPHA:215
HP:0000540	Hypermetropia	93589	CACNA2D4	ORPHA:215
HP:0000540	Hypermetropia	2916	GRM6	ORPHA:215
HP:0000540	Hypermetropia	5158	PDE6B	ORPHA:215
HP:0000540	Hypermetropia	440435	GPR179	ORPHA:215
HP:0000540	Hypermetropia	6011	GRK1	ORPHA:215
HP:0000540	Hypermetropia	778	CACNA1F	ORPHA:215
HP:0000540	Hypermetropia	6010	RHO	ORPHA:215
HP:0000540	Hypermetropia	9187	SLC24A1	ORPHA:215
HP:0000540	Hypermetropia	6295	SAG	ORPHA:215
HP:0000540	Hypermetropia	2784	GNB3	ORPHA:215
HP:0000540	Hypermetropia	2784	GNB3	OMIM:617024
HP:0000540	Hypermetropia	2779	GNAT1	ORPHA:215
HP:0000540	Hypermetropia	60506	NYX	ORPHA:215
HP:0000540	Hypermetropia	11128	POLR3A	ORPHA:3455
HP:0000540	Hypermetropia	4488	MSX2	OMIM:604757
HP:0000540	Hypermetropia	51322	WAC	ORPHA:284169
HP:0000540	Hypermetropia	7439	BEST1	OMIM:611809
HP:0000540	Hypermetropia	22926	ATF6	ORPHA:49382
HP:0000540	Hypermetropia	5146	PDE6C	ORPHA:49382
HP:0000540	Hypermetropia	6103	RPGR	ORPHA:49382
HP:0000540	Hypermetropia	5149	PDE6H	ORPHA:49382
HP:0000540	Hypermetropia	2780	GNAT2	ORPHA:49382
HP:0000540	Hypermetropia	1261	CNGA3	ORPHA:49382
HP:0000540	Hypermetropia	54714	CNGB3	ORPHA:49382
HP:0000540	Hypermetropia	8242	KDM5C	OMIM:300534
HP:0000540	Hypermetropia	9968	MED12	OMIM:300895
HP:0000540	Hypermetropia	55084	SOBP	OMIM:613671
HP:0000540	Hypermetropia	57479	PRR12	OMIM:619539
HP:0000540	Hypermetropia	26022	TMEM98	OMIM:615972
HP:0000540	Hypermetropia	9241	NOG	OMIM:611377
HP:0000540	Hypermetropia	9241	NOG	OMIM:184460
HP:0000540	Hypermetropia	9241	NOG	OMIM:186500
HP:0000540	Hypermetropia	1107	CHD3	OMIM:618205
HP:0000540	Hypermetropia	63901	FAM111A	OMIM:127000
HP:0000540	Hypermetropia	63901	FAM111A	ORPHA:93325
HP:0000540	Hypermetropia	64116	SLC39A8	ORPHA:468699
HP:0000540	Hypermetropia	64802	NMNAT1	OMIM:608553
HP:0000540	Hypermetropia	5631	PRPS1	OMIM:300661
HP:0000540	Hypermetropia	55023	PHIP	ORPHA:589905
HP:0000540	Hypermetropia	55023	PHIP	OMIM:617991
HP:0000540	Hypermetropia	1387	CREBBP	OMIM:618332
HP:0000540	Hypermetropia	1387	CREBBP	ORPHA:353277
HP:0000540	Hypermetropia	2702	GJA5	OMIM:612474
HP:0000540	Hypermetropia	2703	GJA8	OMIM:612474
HP:0000540	Hypermetropia	10664	CTCF	OMIM:615502
HP:0000540	Hypermetropia	10664	CTCF	ORPHA:363611
HP:0000540	Hypermetropia	9230	RAB11B	OMIM:617807
HP:0000540	Hypermetropia	10075	HUWE1	OMIM:309590
HP:0000540	Hypermetropia	22827	PUF60	ORPHA:508498
HP:0000540	Hypermetropia	55906	ZC4H2	OMIM:301041
HP:0000540	Hypermetropia	2245	FGD1	OMIM:305400
HP:0000540	Hypermetropia	5076	PAX2	ORPHA:97362
HP:0000540	Hypermetropia	5087	PBX1	ORPHA:97362
HP:0000540	Hypermetropia	57459	GATAD2B	OMIM:615074
HP:0000540	Hypermetropia	6134	RPL10	OMIM:300998
HP:0000540	Hypermetropia	1281	COL3A1	OMIM:618343
HP:0000540	Hypermetropia	30000	TNPO2	OMIM:619556
HP:0000540	Hypermetropia	23314	SATB2	ORPHA:251028
HP:0000540	Hypermetropia	7681	MKRN3	OMIM:176270
HP:0000540	Hypermetropia	3653	IPW	OMIM:176270
HP:0000540	Hypermetropia	54551	MAGEL2	OMIM:176270
HP:0000540	Hypermetropia	791114	PWRN1	OMIM:176270
HP:0000540	Hypermetropia	100033413	SNORD116-1	OMIM:176270
HP:0000540	Hypermetropia	8924	HERC2	OMIM:176270
HP:0000540	Hypermetropia	145624	PWAR1	OMIM:176270
HP:0000540	Hypermetropia	23742	NPAP1	OMIM:176270
HP:0000540	Hypermetropia	338433	SNORD115-1	OMIM:176270
HP:0000540	Hypermetropia	55593	OTUD5	OMIM:301056
HP:0000540	Hypermetropia	128869	PIGU	OMIM:618590
HP:0000540	Hypermetropia	7707	ZNF148	OMIM:617260
HP:0000540	Hypermetropia	29998	BICRA	OMIM:619325
HP:0000540	Hypermetropia	6651	SON	OMIM:617140
HP:0000540	Hypermetropia	6651	SON	ORPHA:500150
HP:0000540	Hypermetropia	84162	BLTP1	OMIM:617822
HP:0000540	Hypermetropia	2033	EP300	ORPHA:353284
HP:0000540	Hypermetropia	3097	HIVEP2	OMIM:616977
HP:0000540	Hypermetropia	5010	CLDN11	OMIM:619328
HP:0000540	Hypermetropia	55777	MBD5	OMIM:156200
HP:0000540	Hypermetropia	57551	TAOK1	OMIM:619575
HP:0000540	Hypermetropia	537	ATP6AP1	OMIM:300972
HP:0000540	Hypermetropia	92255	LMBRD2	OMIM:619694
HP:0000540	Hypermetropia	23345	SYNE1	OMIM:618484
HP:0000540	Hypermetropia	85358	SHANK3	ORPHA:48652
HP:0000540	Hypermetropia	2058	EPRS1	OMIM:617951
HP:0000540	Hypermetropia	201163	FLCN	OMIM:610883
HP:0000540	Hypermetropia	23389	MED13L	ORPHA:369891
HP:0000540	Hypermetropia	5351	PLOD1	ORPHA:1900
HP:0000540	Hypermetropia	10524	KAT5	OMIM:619103
HP:0000540	Hypermetropia	54681	P4HTM	OMIM:618493
HP:0000540	Hypermetropia	26040	SETBP1	OMIM:616078
HP:0000540	Hypermetropia	523	ATP6V1A	OMIM:618012
HP:0000540	Hypermetropia	5144	PDE4D	ORPHA:439822
HP:0000540	Hypermetropia	23065	EMC1	OMIM:616875
HP:0000540	Hypermetropia	6304	SATB1	OMIM:619229
HP:0000540	Hypermetropia	5116	PCNT	OMIM:210720
HP:0000540	Hypermetropia	6638	SNRPN	ORPHA:177907
HP:0000540	Hypermetropia	668	FOXL2	OMIM:110100
HP:0000540	Hypermetropia	26160	IFT172	OMIM:619471
HP:0000540	Hypermetropia	9851	KIAA0753	OMIM:619476
HP:0000540	Hypermetropia	57003	CCDC47	OMIM:618268
HP:0000540	Hypermetropia	134218	DNAJC21	OMIM:617052
HP:0000540	Hypermetropia	5977	DPF2	OMIM:618027
HP:0000540	Hypermetropia	29957	SLC25A24	OMIM:612289
HP:0000540	Hypermetropia	4659	PPP1R12A	OMIM:618820
HP:0000540	Hypermetropia	80152	CENPT	OMIM:618702
HP:0000540	Hypermetropia	6247	RS1	OMIM:312700
HP:0000540	Hypermetropia	2218	FKTN	OMIM:253800
HP:0000540	Hypermetropia	63895	PIEZO2	OMIM:108145
HP:0000540	Hypermetropia	8567	MADD	OMIM:619004
HP:0000540	Hypermetropia	55617	TASP1	OMIM:618950
HP:0000540	Hypermetropia	6857	SYT1	ORPHA:522077
HP:0000540	Hypermetropia	79867	TCTN2	OMIM:616654
HP:0000540	Hypermetropia	23096	IQSEC2	OMIM:309530
HP:0000540	Hypermetropia	4140	MARK3	OMIM:618283
HP:0000540	Hypermetropia	10084	PQBP1	OMIM:309500
HP:0000540	Hypermetropia	29954	POMT2	OMIM:613150
HP:0000540	Hypermetropia	51594	NBAS	OMIM:614800
HP:0000540	Hypermetropia	9757	KMT2B	OMIM:619934
HP:0000540	Hypermetropia	1302	COL11A2	ORPHA:1427
HP:0000540	Hypermetropia	9469	CHST3	OMIM:245600
HP:0000540	Hypermetropia	26229	B3GAT3	OMIM:245600
HP:0000540	Hypermetropia	3832	KIF11	OMIM:152950
HP:0000540	Hypermetropia	57728	WDR19	OMIM:614378
HP:0000540	Hypermetropia	84148	KAT8	OMIM:618974
HP:0000540	Hypermetropia	7287	TULP1	OMIM:613843
HP:0000540	Hypermetropia	284217	LAMA1	ORPHA:370022
HP:0000540	Hypermetropia	3852	KRT5	ORPHA:79396
HP:0000540	Hypermetropia	3861	KRT14	ORPHA:79396
HP:0000540	Hypermetropia	5295	PIK3R1	OMIM:269880
HP:0000540	Hypermetropia	6657	SOX2	ORPHA:35612
HP:0000540	Hypermetropia	220	ALDH1A3	ORPHA:35612
HP:0000540	Hypermetropia	646960	PRSS56	ORPHA:35612
HP:0000540	Hypermetropia	646960	PRSS56	OMIM:613517
HP:0000540	Hypermetropia	83552	MFRP	ORPHA:35612
HP:0000540	Hypermetropia	83552	MFRP	OMIM:611040
HP:0000540	Hypermetropia	30062	RAX	ORPHA:35612
HP:0000540	Hypermetropia	5015	OTX2	ORPHA:35612
HP:0000540	Hypermetropia	4990	SIX6	ORPHA:35612
HP:0000540	Hypermetropia	6023	RMRP	ORPHA:175
HP:0000540	Hypermetropia	8473	OGT	OMIM:300997
HP:0000540	Hypermetropia	83938	LRMDA	OMIM:615179
HP:0000540	Hypermetropia	11152	WDR45	OMIM:615179
HP:0000540	Hypermetropia	81857	MED25	ORPHA:464738
HP:0000540	Hypermetropia	81857	MED25	OMIM:616449
HP:0000540	Hypermetropia	6804	STX1A	ORPHA:904
HP:0000540	Hypermetropia	7461	CLIP2	ORPHA:904
HP:0000540	Hypermetropia	84277	DNAJC30	ORPHA:904
HP:0000540	Hypermetropia	8468	FKBP6	ORPHA:904
HP:0000540	Hypermetropia	5982	RFC2	ORPHA:904
HP:0000540	Hypermetropia	2969	GTF2I	ORPHA:904
HP:0000540	Hypermetropia	3984	LIMK1	ORPHA:904
HP:0000540	Hypermetropia	9569	GTF2IRD1	ORPHA:904
HP:0000540	Hypermetropia	155382	VPS37D	ORPHA:904
HP:0000540	Hypermetropia	155368	METTL27	ORPHA:904
HP:0000540	Hypermetropia	114049	BUD23	ORPHA:904
HP:0000540	Hypermetropia	7458	EIF4H	ORPHA:904
HP:0000540	Hypermetropia	84163	GTF2IRD2	ORPHA:904
HP:0000540	Hypermetropia	9275	BCL7B	ORPHA:904
HP:0000540	Hypermetropia	26608	TBL2	ORPHA:904
HP:0000540	Hypermetropia	653361	NCF1	ORPHA:904
HP:0000540	Hypermetropia	135886	TMEM270	ORPHA:904
HP:0000540	Hypermetropia	51085	MLXIPL	ORPHA:904
HP:0000540	Hypermetropia	9031	BAZ1B	ORPHA:904
HP:0000540	Hypermetropia	2006	ELN	ORPHA:904
HP:0000540	Hypermetropia	10383	TUBB4B	OMIM:617879
HP:0000540	Hypermetropia	26504	CNNM4	OMIM:217080
HP:0000540	Hypermetropia	6533	SLC6A6	OMIM:145350
HP:0000540	Hypermetropia	5590	PRKCZ	ORPHA:1606
HP:0000540	Hypermetropia	2563	GABRD	ORPHA:1606
HP:0000540	Hypermetropia	23013	SPEN	ORPHA:1606
HP:0000540	Hypermetropia	8510	MMP23B	ORPHA:1606
HP:0000540	Hypermetropia	7798	LUZP1	ORPHA:1606
HP:0000540	Hypermetropia	6497	SKI	ORPHA:1606
HP:0000540	Hypermetropia	10630	PDPN	ORPHA:1606
HP:0000540	Hypermetropia	3339	HSPG2	ORPHA:1606
HP:0000540	Hypermetropia	10277	UBE4B	ORPHA:1606
HP:0000540	Hypermetropia	8514	KCNAB2	ORPHA:1606
HP:0000540	Hypermetropia	473	RERE	ORPHA:1606
HP:0000540	Hypermetropia	63976	PRDM16	ORPHA:1606
HP:0000540	Hypermetropia	54897	CASZ1	ORPHA:1606
HP:0000540	Hypermetropia	2248	FGF3	ORPHA:90024
HP:0000540	Hypermetropia	2697	GJA1	ORPHA:2710
HP:0000540	Hypermetropia	9333	TGM5	ORPHA:263534
HP:0000540	Hypermetropia	1475	CSTA	ORPHA:263534
HP:0000540	Hypermetropia	64072	CDH23	ORPHA:231169
HP:0000540	Hypermetropia	10083	USH1C	ORPHA:231169
HP:0000540	Hypermetropia	124590	USH1G	ORPHA:231169
HP:0000540	Hypermetropia	83715	ESPN	ORPHA:231169
HP:0000540	Hypermetropia	10518	CIB2	ORPHA:231169
HP:0000540	Hypermetropia	4647	MYO7A	ORPHA:231169
HP:0000540	Hypermetropia	65217	PCDH15	ORPHA:231169
HP:0000540	Hypermetropia	64801	ARV1	OMIM:617020
HP:0000540	Hypermetropia	57096	RPGRIP1	OMIM:613826
HP:0000540	Hypermetropia	112752	IFT43	ORPHA:1515
HP:0000540	Hypermetropia	55764	IFT122	ORPHA:1515
HP:0000540	Hypermetropia	10743	RAI1	ORPHA:1713
HP:0000540	Hypermetropia	7401	CLRN1	ORPHA:231183
HP:0000540	Hypermetropia	22901	ARSG	ORPHA:231183
HP:0000540	Hypermetropia	4575	MT-TS2	ORPHA:231183
HP:0000540	Hypermetropia	3035	HARS1	ORPHA:231183
HP:0000540	Hypermetropia	84131	CEP78	ORPHA:231183
HP:0000542	Impaired ocular adduction	9935	MAFB	OMIM:617041
HP:0000542	Impaired ocular adduction	57167	SALL4	OMIM:607323
HP:0000544	External ophthalmoplegia	3980	LIG3	ORPHA:298
HP:0000544	External ophthalmoplegia	353116	RILPL1	OMIM:619790
HP:0000544	External ophthalmoplegia	2483	FRG1	OMIM:158900
HP:0000544	External ophthalmoplegia	35	ACADS	OMIM:201470
HP:0000544	External ophthalmoplegia	63899	NSUN3	OMIM:619012
HP:0000544	External ophthalmoplegia	57167	SALL4	OMIM:147750
HP:0000544	External ophthalmoplegia	6261	RYR1	OMIM:255320
HP:0000544	External ophthalmoplegia	6261	RYR1	ORPHA:98905
HP:0000544	External ophthalmoplegia	6261	RYR1	ORPHA:169189
HP:0000544	External ophthalmoplegia	6389	SDHA	ORPHA:3208
HP:0000544	External ophthalmoplegia	6390	SDHB	ORPHA:3208
HP:0000544	External ophthalmoplegia	6392	SDHD	ORPHA:3208
HP:0000544	External ophthalmoplegia	644096	SDHAF1	ORPHA:3208
HP:0000544	External ophthalmoplegia	90624	LYRM7	OMIM:615838
HP:0000544	External ophthalmoplegia	91574	MTRFR	OMIM:613559
HP:0000544	External ophthalmoplegia	29967	LRP12	OMIM:164310
HP:0000544	External ophthalmoplegia	4534	MTM1	OMIM:310400
HP:0000544	External ophthalmoplegia	80704	SLC19A3	OMIM:607483
HP:0000544	External ophthalmoplegia	274	BIN1	ORPHA:169189
HP:0000544	External ophthalmoplegia	64419	MTMR14	ORPHA:169189
HP:0000544	External ophthalmoplegia	64419	MTMR14	OMIM:160150
HP:0000544	External ophthalmoplegia	4618	MYF6	ORPHA:169189
HP:0000544	External ophthalmoplegia	1785	DNM2	ORPHA:169189
HP:0000544	External ophthalmoplegia	1785	DNM2	OMIM:160150
HP:0000544	External ophthalmoplegia	4556	MT-TE	ORPHA:225
HP:0000544	External ophthalmoplegia	91942	NDUFAF2	OMIM:618233
HP:0000544	External ophthalmoplegia	84842	HPDL	OMIM:619026
HP:0000544	External ophthalmoplegia	10533	ATG7	OMIM:619422
HP:0000544	External ophthalmoplegia	56947	MFF	OMIM:617086
HP:0000544	External ophthalmoplegia	56947	MFF	ORPHA:485421
HP:0000544	External ophthalmoplegia	6329	SCN4A	OMIM:614198
HP:0000544	External ophthalmoplegia	4617	MYF5	OMIM:618155
HP:0000544	External ophthalmoplegia	101060691	NUTM2B-AS1	OMIM:618637
HP:0000544	External ophthalmoplegia	10273	STUB1	OMIM:615768
HP:0000544	External ophthalmoplegia	79152	FA2H	OMIM:612319
HP:0000544	External ophthalmoplegia	113278	SLC52A3	OMIM:211530
HP:0000544	External ophthalmoplegia	6786	STIM1	OMIM:160565
HP:0000544	External ophthalmoplegia	4558	MT-TF	ORPHA:550
HP:0000544	External ophthalmoplegia	4572	MT-TQ	ORPHA:550
HP:0000544	External ophthalmoplegia	4512	MT-CO1	ORPHA:550
HP:0000544	External ophthalmoplegia	4513	MT-CO2	ORPHA:550
HP:0000544	External ophthalmoplegia	4514	MT-CO3	ORPHA:550
HP:0000544	External ophthalmoplegia	4578	MT-TW	ORPHA:550
HP:0000544	External ophthalmoplegia	4540	MT-ND5	ORPHA:550
HP:0000544	External ophthalmoplegia	4541	MT-ND6	ORPHA:550
HP:0000544	External ophthalmoplegia	4535	MT-ND1	ORPHA:550
HP:0000544	External ophthalmoplegia	4538	MT-ND4	ORPHA:550
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:550
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:663
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:480
HP:0000544	External ophthalmoplegia	4574	MT-TS1	ORPHA:550
HP:0000544	External ophthalmoplegia	4574	MT-TS1	ORPHA:663
HP:0000544	External ophthalmoplegia	4575	MT-TS2	ORPHA:550
HP:0000544	External ophthalmoplegia	4564	MT-TH	ORPHA:550
HP:0000544	External ophthalmoplegia	1716	DGUOK	OMIM:617070
HP:0000544	External ophthalmoplegia	1716	DGUOK	ORPHA:329314
HP:0000544	External ophthalmoplegia	7084	TK2	ORPHA:254875
HP:0000544	External ophthalmoplegia	7084	TK2	OMIM:617069
HP:0000544	External ophthalmoplegia	1763	DNA2	OMIM:615156
HP:0000544	External ophthalmoplegia	1763	DNA2	ORPHA:352470
HP:0000544	External ophthalmoplegia	4576	MT-TT	ORPHA:254857
HP:0000544	External ophthalmoplegia	50484	RRM2B	OMIM:613077
HP:0000544	External ophthalmoplegia	50484	RRM2B	ORPHA:329336
HP:0000544	External ophthalmoplegia	50484	RRM2B	ORPHA:480
HP:0000544	External ophthalmoplegia	246243	RNASEH1	ORPHA:329336
HP:0000544	External ophthalmoplegia	246243	RNASEH1	OMIM:616479
HP:0000544	External ophthalmoplegia	291	SLC25A4	OMIM:609283
HP:0000544	External ophthalmoplegia	708	C1QBP	OMIM:617713
HP:0000544	External ophthalmoplegia	1890	TYMP	OMIM:603041
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:603041
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:258450
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:157640
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:607459
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:613662
HP:0000544	External ophthalmoplegia	4287	ATXN3	ORPHA:276244
HP:0000544	External ophthalmoplegia	4287	ATXN3	ORPHA:276241
HP:0000544	External ophthalmoplegia	4287	ATXN3	ORPHA:276238
HP:0000544	External ophthalmoplegia	4566	MT-TK	ORPHA:1349
HP:0000544	External ophthalmoplegia	4976	OPA1	OMIM:165500
HP:0000544	External ophthalmoplegia	4976	OPA1	ORPHA:1215
HP:0000544	External ophthalmoplegia	57176	VARS2	OMIM:615917
HP:0000544	External ophthalmoplegia	56652	TWNK	OMIM:609286
HP:0000544	External ophthalmoplegia	56652	TWNK	OMIM:607459
HP:0000544	External ophthalmoplegia	92667	MGME1	ORPHA:352447
HP:0000544	External ophthalmoplegia	92667	MGME1	OMIM:615084
HP:0000544	External ophthalmoplegia	4568	MT-TL2	ORPHA:663
HP:0000544	External ophthalmoplegia	4570	MT-TN	ORPHA:663
HP:0000544	External ophthalmoplegia	4509	MT-ATP8	ORPHA:480
HP:0000544	External ophthalmoplegia	5442	POLRMT	OMIM:619743
HP:0000544	External ophthalmoplegia	7156	TOP3A	OMIM:618098
HP:0000544	External ophthalmoplegia	11232	POLG2	OMIM:610131
HP:0000544	External ophthalmoplegia	54840	APTX	OMIM:208920
HP:0000544	External ophthalmoplegia	10755	GIPC1	ORPHA:98897
HP:0000544	External ophthalmoplegia	100996717	NOTCH2NLC	ORPHA:98897
HP:0000544	External ophthalmoplegia	10381	TUBB3	OMIM:600638
HP:0000544	External ophthalmoplegia	401	PHOX2A	OMIM:602078
HP:0000544	External ophthalmoplegia	55605	KIF21A	OMIM:135700
HP:0000549	Abnormal conjugate eye movement	1718	DHCR24	OMIM:602398
HP:0000549	Abnormal conjugate eye movement	1718	DHCR24	ORPHA:35107
HP:0000549	Abnormal conjugate eye movement	2673	GFPT1	OMIM:608931
HP:0000549	Abnormal conjugate eye movement	1145	CHRNE	OMIM:608931
HP:0000549	Abnormal conjugate eye movement	1145	CHRNE	OMIM:605809
HP:0000549	Abnormal conjugate eye movement	23394	ADNP	ORPHA:404448
HP:0000549	Abnormal conjugate eye movement	23394	ADNP	OMIM:615873
HP:0000549	Abnormal conjugate eye movement	51256	TBC1D7	OMIM:248000
HP:0000549	Abnormal conjugate eye movement	340533	NEXMIF	OMIM:300912
HP:0000549	Abnormal conjugate eye movement	1139	CHRNA7	ORPHA:199318
HP:0000549	Abnormal conjugate eye movement	1139	CHRNA7	OMIM:612001
HP:0000549	Abnormal conjugate eye movement	23135	KDM6B	OMIM:618505
HP:0000549	Abnormal conjugate eye movement	1024	CDK8	OMIM:618748
HP:0000549	Abnormal conjugate eye movement	10059	DNM1L	OMIM:614388
HP:0000549	Abnormal conjugate eye movement	10059	DNM1L	ORPHA:330050
HP:0000549	Abnormal conjugate eye movement	7299	TYR	OMIM:203100
HP:0000549	Abnormal conjugate eye movement	7299	TYR	ORPHA:79434
HP:0000549	Abnormal conjugate eye movement	2677	GGCX	ORPHA:436274
HP:0000549	Abnormal conjugate eye movement	9254	CACNA2D2	OMIM:618501
HP:0000549	Abnormal conjugate eye movement	4897	NRCAM	OMIM:619833
HP:0000549	Abnormal conjugate eye movement	7021	TFAP2B	OMIM:169100
HP:0000549	Abnormal conjugate eye movement	7021	TFAP2B	ORPHA:46627
HP:0000549	Abnormal conjugate eye movement	5457	POU4F1	ORPHA:314647
HP:0000549	Abnormal conjugate eye movement	23261	CAMTA1	ORPHA:314647
HP:0000549	Abnormal conjugate eye movement	23261	CAMTA1	OMIM:614756
HP:0000549	Abnormal conjugate eye movement	51	ACOX1	ORPHA:2971
HP:0000549	Abnormal conjugate eye movement	51	ACOX1	OMIM:264470
HP:0000549	Abnormal conjugate eye movement	51099	ABHD5	OMIM:275630
HP:0000549	Abnormal conjugate eye movement	51099	ABHD5	ORPHA:98907
HP:0000549	Abnormal conjugate eye movement	10084	PQBP1	ORPHA:93950
HP:0000549	Abnormal conjugate eye movement	10084	PQBP1	ORPHA:93945
HP:0000549	Abnormal conjugate eye movement	10084	PQBP1	OMIM:309500
HP:0000549	Abnormal conjugate eye movement	55209	SETD5	ORPHA:404440
HP:0000549	Abnormal conjugate eye movement	55209	SETD5	OMIM:615761
HP:0000549	Abnormal conjugate eye movement	4125	MAN2B1	ORPHA:309282
HP:0000549	Abnormal conjugate eye movement	10743	RAI1	ORPHA:477817
HP:0000549	Abnormal conjugate eye movement	10743	RAI1	ORPHA:819
HP:0000549	Abnormal conjugate eye movement	197131	UBR1	OMIM:243800
HP:0000549	Abnormal conjugate eye movement	9578	CDC42BPB	OMIM:619841
HP:0000549	Abnormal conjugate eye movement	65993	MRPS34	OMIM:617664
HP:0000549	Abnormal conjugate eye movement	80816	ASXL3	OMIM:615485
HP:0000549	Abnormal conjugate eye movement	80816	ASXL3	ORPHA:352577
HP:0000549	Abnormal conjugate eye movement	56997	COQ8A	ORPHA:139485
HP:0000549	Abnormal conjugate eye movement	56997	COQ8A	OMIM:612016
HP:0000549	Abnormal conjugate eye movement	283489	CHAMP1	OMIM:616579
HP:0000549	Abnormal conjugate eye movement	23322	RPGRIP1L	ORPHA:220497
HP:0000549	Abnormal conjugate eye movement	23322	RPGRIP1L	ORPHA:1454
HP:0000549	Abnormal conjugate eye movement	23322	RPGRIP1L	OMIM:619113
HP:0000549	Abnormal conjugate eye movement	4867	NPHP1	ORPHA:220497
HP:0000549	Abnormal conjugate eye movement	65062	TMEM237	ORPHA:220497
HP:0000549	Abnormal conjugate eye movement	65062	TMEM237	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	65062	TMEM237	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	65062	TMEM237	OMIM:614424
HP:0000549	Abnormal conjugate eye movement	27245	AHDC1	ORPHA:412069
HP:0000549	Abnormal conjugate eye movement	166378	AFG2A	OMIM:616577
HP:0000549	Abnormal conjugate eye movement	55690	PACS1	OMIM:615009
HP:0000549	Abnormal conjugate eye movement	54806	AHI1	ORPHA:220493
HP:0000549	Abnormal conjugate eye movement	54806	AHI1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	56623	INPP5E	ORPHA:220493
HP:0000549	Abnormal conjugate eye movement	56623	INPP5E	OMIM:213300
HP:0000549	Abnormal conjugate eye movement	56623	INPP5E	ORPHA:1454
HP:0000549	Abnormal conjugate eye movement	56623	INPP5E	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	153241	CEP120	ORPHA:220493
HP:0000549	Abnormal conjugate eye movement	153241	CEP120	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	153241	CEP120	OMIM:617761
HP:0000549	Abnormal conjugate eye movement	54903	MKS1	ORPHA:220493
HP:0000549	Abnormal conjugate eye movement	54903	MKS1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	54903	MKS1	OMIM:617121
HP:0000549	Abnormal conjugate eye movement	95681	CEP41	ORPHA:220493
HP:0000549	Abnormal conjugate eye movement	95681	CEP41	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	10686	CLDN16	OMIM:248250
HP:0000549	Abnormal conjugate eye movement	1161	ERCC8	OMIM:216400
HP:0000549	Abnormal conjugate eye movement	1161	ERCC8	ORPHA:90324
HP:0000549	Abnormal conjugate eye movement	1161	ERCC8	ORPHA:90321
HP:0000549	Abnormal conjugate eye movement	1161	ERCC8	ORPHA:90322
HP:0000549	Abnormal conjugate eye movement	55636	CHD7	ORPHA:138
HP:0000549	Abnormal conjugate eye movement	9723	SEMA3E	ORPHA:138
HP:0000549	Abnormal conjugate eye movement	29957	SLC25A24	ORPHA:2963
HP:0000549	Abnormal conjugate eye movement	23418	CRB1	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	7439	BEST1	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	7439	BEST1	OMIM:193220
HP:0000549	Abnormal conjugate eye movement	26022	TMEM98	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	6657	SOX2	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	6657	SOX2	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	220	ALDH1A3	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	646960	PRSS56	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	83552	MFRP	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	30062	RAX	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	5015	OTX2	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	5015	OTX2	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	4990	SIX6	ORPHA:35612
HP:0000549	Abnormal conjugate eye movement	6023	RMRP	ORPHA:175
HP:0000549	Abnormal conjugate eye movement	112802	KRT71	ORPHA:170
HP:0000549	Abnormal conjugate eye movement	121391	KRT74	ORPHA:170
HP:0000549	Abnormal conjugate eye movement	200879	LIPH	ORPHA:170
HP:0000549	Abnormal conjugate eye movement	10161	LPAR6	ORPHA:170
HP:0000549	Abnormal conjugate eye movement	147183	KRT25	ORPHA:170
HP:0000549	Abnormal conjugate eye movement	57589	RIC1	OMIM:618761
HP:0000549	Abnormal conjugate eye movement	317662	FAM149B1	OMIM:618763
HP:0000549	Abnormal conjugate eye movement	818	CAMK2G	OMIM:618522
HP:0000549	Abnormal conjugate eye movement	113189	CHST14	ORPHA:2953
HP:0000549	Abnormal conjugate eye movement	113189	CHST14	OMIM:601776
HP:0000549	Abnormal conjugate eye movement	29940	DSE	ORPHA:2953
HP:0000549	Abnormal conjugate eye movement	9968	MED12	ORPHA:93932
HP:0000549	Abnormal conjugate eye movement	9968	MED12	OMIM:305450
HP:0000549	Abnormal conjugate eye movement	9968	MED12	OMIM:300895
HP:0000549	Abnormal conjugate eye movement	7436	VLDLR	OMIM:224050
HP:0000549	Abnormal conjugate eye movement	7436	VLDLR	ORPHA:1766
HP:0000549	Abnormal conjugate eye movement	7994	KAT6A	ORPHA:457193
HP:0000549	Abnormal conjugate eye movement	7994	KAT6A	OMIM:616268
HP:0000549	Abnormal conjugate eye movement	81857	MED25	ORPHA:464738
HP:0000549	Abnormal conjugate eye movement	81857	MED25	OMIM:616449
HP:0000549	Abnormal conjugate eye movement	84100	ARL6	OMIM:209900
HP:0000549	Abnormal conjugate eye movement	79140	CCDC28B	OMIM:209900
HP:0000549	Abnormal conjugate eye movement	582	BBS1	OMIM:209900
HP:0000549	Abnormal conjugate eye movement	2697	GJA1	ORPHA:2710
HP:0000549	Abnormal conjugate eye movement	1130	LYST	ORPHA:167
HP:0000549	Abnormal conjugate eye movement	1130	LYST	OMIM:214500
HP:0000549	Abnormal conjugate eye movement	9401	RECQL4	OMIM:218600
HP:0000549	Abnormal conjugate eye movement	9401	RECQL4	OMIM:268400
HP:0000549	Abnormal conjugate eye movement	4330	MN1	OMIM:618774
HP:0000549	Abnormal conjugate eye movement	5528	PPP2R5D	OMIM:616355
HP:0000549	Abnormal conjugate eye movement	5528	PPP2R5D	ORPHA:457279
HP:0000549	Abnormal conjugate eye movement	3340	NDST1	OMIM:616116
HP:0000549	Abnormal conjugate eye movement	89910	UBE3B	ORPHA:2707
HP:0000549	Abnormal conjugate eye movement	89910	UBE3B	OMIM:244450
HP:0000549	Abnormal conjugate eye movement	1499	CTNNB1	ORPHA:404473
HP:0000549	Abnormal conjugate eye movement	1499	CTNNB1	OMIM:615075
HP:0000549	Abnormal conjugate eye movement	55768	NGLY1	OMIM:615273
HP:0000549	Abnormal conjugate eye movement	8493	PPM1D	OMIM:617450
HP:0000549	Abnormal conjugate eye movement	91574	MTRFR	OMIM:615035
HP:0000549	Abnormal conjugate eye movement	91574	MTRFR	ORPHA:320375
HP:0000549	Abnormal conjugate eye movement	91574	MTRFR	OMIM:613559
HP:0000549	Abnormal conjugate eye movement	23126	POGZ	OMIM:616364
HP:0000549	Abnormal conjugate eye movement	23126	POGZ	ORPHA:468678
HP:0000549	Abnormal conjugate eye movement	55773	TBC1D23	OMIM:617695
HP:0000549	Abnormal conjugate eye movement	23259	DDHD2	OMIM:615033
HP:0000549	Abnormal conjugate eye movement	23259	DDHD2	ORPHA:320380
HP:0000549	Abnormal conjugate eye movement	3769	KCNJ13	OMIM:614186
HP:0000549	Abnormal conjugate eye movement	57167	SALL4	OMIM:147750
HP:0000549	Abnormal conjugate eye movement	57167	SALL4	ORPHA:2307
HP:0000549	Abnormal conjugate eye movement	57167	SALL4	ORPHA:233
HP:0000549	Abnormal conjugate eye movement	57167	SALL4	ORPHA:959
HP:0000549	Abnormal conjugate eye movement	57167	SALL4	OMIM:607323
HP:0000549	Abnormal conjugate eye movement	55280	CWF19L1	OMIM:616127
HP:0000549	Abnormal conjugate eye movement	92609	TIMM50	OMIM:617698
HP:0000549	Abnormal conjugate eye movement	51692	CPSF3	OMIM:619876
HP:0000549	Abnormal conjugate eye movement	3098	HK1	OMIM:618547
HP:0000549	Abnormal conjugate eye movement	5590	PRKCZ	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	2563	GABRD	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	23013	SPEN	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	8510	MMP23B	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	7798	LUZP1	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	6497	SKI	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	6497	SKI	ORPHA:2462
HP:0000549	Abnormal conjugate eye movement	6497	SKI	OMIM:182212
HP:0000549	Abnormal conjugate eye movement	10630	PDPN	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	3339	HSPG2	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	3339	HSPG2	ORPHA:800
HP:0000549	Abnormal conjugate eye movement	10277	UBE4B	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	8514	KCNAB2	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	473	RERE	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	473	RERE	ORPHA:494344
HP:0000549	Abnormal conjugate eye movement	473	RERE	OMIM:616975
HP:0000549	Abnormal conjugate eye movement	63976	PRDM16	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	54897	CASZ1	ORPHA:1606
HP:0000549	Abnormal conjugate eye movement	148789	B3GALNT2	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	29925	GMPPB	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	29925	GMPPB	ORPHA:370968
HP:0000549	Abnormal conjugate eye movement	29925	GMPPB	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	29925	GMPPB	OMIM:615351
HP:0000549	Abnormal conjugate eye movement	79147	FKRP	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	79147	FKRP	ORPHA:370968
HP:0000549	Abnormal conjugate eye movement	79147	FKRP	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	9215	LARGE1	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	9215	LARGE1	ORPHA:370968
HP:0000549	Abnormal conjugate eye movement	29954	POMT2	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	29954	POMT2	ORPHA:370968
HP:0000549	Abnormal conjugate eye movement	29954	POMT2	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	29954	POMT2	OMIM:613156
HP:0000549	Abnormal conjugate eye movement	2218	FKTN	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	2218	FKTN	OMIM:253800
HP:0000549	Abnormal conjugate eye movement	55624	POMGNT1	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	55624	POMGNT1	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	55624	POMGNT1	OMIM:253280
HP:0000549	Abnormal conjugate eye movement	55624	POMGNT1	OMIM:613151
HP:0000549	Abnormal conjugate eye movement	10585	POMT1	ORPHA:588
HP:0000549	Abnormal conjugate eye movement	10585	POMT1	ORPHA:370968
HP:0000549	Abnormal conjugate eye movement	10585	POMT1	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	1859	DYRK1A	ORPHA:464311
HP:0000549	Abnormal conjugate eye movement	1859	DYRK1A	ORPHA:268261
HP:0000549	Abnormal conjugate eye movement	9289	ADGRG1	ORPHA:101070
HP:0000549	Abnormal conjugate eye movement	5728	PTEN	ORPHA:101070
HP:0000549	Abnormal conjugate eye movement	5728	PTEN	ORPHA:744
HP:0000549	Abnormal conjugate eye movement	472	ATM	ORPHA:100
HP:0000549	Abnormal conjugate eye movement	472	ATM	OMIM:208900
HP:0000549	Abnormal conjugate eye movement	79718	TBL1XR1	OMIM:602342
HP:0000549	Abnormal conjugate eye movement	79718	TBL1XR1	ORPHA:487825
HP:0000549	Abnormal conjugate eye movement	5605	MAP2K2	OMIM:615280
HP:0000549	Abnormal conjugate eye movement	5605	MAP2K2	ORPHA:1340
HP:0000549	Abnormal conjugate eye movement	4644	MYO5A	ORPHA:33445
HP:0000549	Abnormal conjugate eye movement	54828	BCAS3	OMIM:619641
HP:0000549	Abnormal conjugate eye movement	6305	SBF1	OMIM:615284
HP:0000549	Abnormal conjugate eye movement	8818	DPM2	OMIM:615042
HP:0000549	Abnormal conjugate eye movement	8818	DPM2	ORPHA:329178
HP:0000549	Abnormal conjugate eye movement	3913	LAMB2	OMIM:614199
HP:0000549	Abnormal conjugate eye movement	56098	PCDHGC4	OMIM:619880
HP:0000549	Abnormal conjugate eye movement	113179	ADAT3	OMIM:615286
HP:0000549	Abnormal conjugate eye movement	113179	ADAT3	ORPHA:363528
HP:0000549	Abnormal conjugate eye movement	1742	DLG4	OMIM:618793
HP:0000549	Abnormal conjugate eye movement	163175	LGI4	OMIM:617468
HP:0000549	Abnormal conjugate eye movement	200424	TET3	OMIM:618798
HP:0000549	Abnormal conjugate eye movement	9772	TMEM94	OMIM:618316
HP:0000549	Abnormal conjugate eye movement	57192	MCOLN1	ORPHA:578
HP:0000549	Abnormal conjugate eye movement	57192	MCOLN1	OMIM:252650
HP:0000549	Abnormal conjugate eye movement	10667	FARS2	ORPHA:466722
HP:0000549	Abnormal conjugate eye movement	4208	MEF2C	ORPHA:228384
HP:0000549	Abnormal conjugate eye movement	5727	PTCH1	ORPHA:377
HP:0000549	Abnormal conjugate eye movement	5727	PTCH1	OMIM:109400
HP:0000549	Abnormal conjugate eye movement	5727	PTCH1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	5727	PTCH1	ORPHA:77301
HP:0000549	Abnormal conjugate eye movement	8643	PTCH2	ORPHA:377
HP:0000549	Abnormal conjugate eye movement	51684	SUFU	ORPHA:377
HP:0000549	Abnormal conjugate eye movement	51684	SUFU	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	51684	SUFU	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	6843	VAMP1	OMIM:618323
HP:0000549	Abnormal conjugate eye movement	197258	FCSK	OMIM:618324
HP:0000549	Abnormal conjugate eye movement	345193	LRIT3	OMIM:615058
HP:0000549	Abnormal conjugate eye movement	345193	LRIT3	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	84168	ANTXR1	OMIM:230740
HP:0000549	Abnormal conjugate eye movement	25836	NIPBL	OMIM:122470
HP:0000549	Abnormal conjugate eye movement	25836	NIPBL	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	23499	MACF1	OMIM:618325
HP:0000549	Abnormal conjugate eye movement	23499	MACF1	ORPHA:572013
HP:0000549	Abnormal conjugate eye movement	51322	WAC	ORPHA:466950
HP:0000549	Abnormal conjugate eye movement	51322	WAC	ORPHA:284169
HP:0000549	Abnormal conjugate eye movement	51322	WAC	OMIM:616708
HP:0000549	Abnormal conjugate eye movement	2778	GNAS	ORPHA:79443
HP:0000549	Abnormal conjugate eye movement	6135	RPL11	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6138	RPL15	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6229	RPS24	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6125	RPL5	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6204	RPS10	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6224	RPS20	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6165	RPL35A	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	2623	GATA1	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6223	RPS19	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6223	RPS19	OMIM:105650
HP:0000549	Abnormal conjugate eye movement	6232	RPS27	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6231	RPS26	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	11224	RPL35	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6160	RPL31	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6218	RPS17	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6201	RPS7	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6155	RPL27	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6154	RPL26	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6210	RPS15A	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	90121	TSR2	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6141	RPL18	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6235	RPS29	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	6234	RPS28	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	51816	ADA2	ORPHA:124
HP:0000549	Abnormal conjugate eye movement	257	ALX3	ORPHA:391474
HP:0000549	Abnormal conjugate eye movement	117581	TWIST2	ORPHA:1807
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	ORPHA:77261
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	ORPHA:77260
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	ORPHA:2072
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	OMIM:230900
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	OMIM:608013
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	OMIM:231005
HP:0000549	Abnormal conjugate eye movement	2629	GBA1	OMIM:231000
HP:0000549	Abnormal conjugate eye movement	1387	CREBBP	OMIM:618332
HP:0000549	Abnormal conjugate eye movement	1387	CREBBP	OMIM:180849
HP:0000549	Abnormal conjugate eye movement	1387	CREBBP	ORPHA:353277
HP:0000549	Abnormal conjugate eye movement	2033	EP300	OMIM:618333
HP:0000549	Abnormal conjugate eye movement	2033	EP300	OMIM:613684
HP:0000549	Abnormal conjugate eye movement	2033	EP300	ORPHA:353284
HP:0000549	Abnormal conjugate eye movement	2033	EP300	OMIM:180849
HP:0000549	Abnormal conjugate eye movement	10533	ATG7	OMIM:619422
HP:0000549	Abnormal conjugate eye movement	60529	ALX4	ORPHA:228390
HP:0000549	Abnormal conjugate eye movement	60529	ALX4	OMIM:613451
HP:0000549	Abnormal conjugate eye movement	60529	ALX4	ORPHA:52022
HP:0000549	Abnormal conjugate eye movement	26173	INTS1	OMIM:618571
HP:0000549	Abnormal conjugate eye movement	120	ADD3	OMIM:617008
HP:0000549	Abnormal conjugate eye movement	5813	PURA	OMIM:616158
HP:0000549	Abnormal conjugate eye movement	7306	TYRP1	ORPHA:79433
HP:0000549	Abnormal conjugate eye movement	7306	TYRP1	OMIM:203290
HP:0000549	Abnormal conjugate eye movement	7291	TWIST1	ORPHA:794
HP:0000549	Abnormal conjugate eye movement	7291	TWIST1	OMIM:180750
HP:0000549	Abnormal conjugate eye movement	7291	TWIST1	OMIM:101400
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	ORPHA:794
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	OMIM:123500
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	ORPHA:87
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	OMIM:101400
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	OMIM:101200
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	ORPHA:207
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	OMIM:101600
HP:0000549	Abnormal conjugate eye movement	2263	FGFR2	ORPHA:1540
HP:0000549	Abnormal conjugate eye movement	2261	FGFR3	ORPHA:794
HP:0000549	Abnormal conjugate eye movement	2261	FGFR3	ORPHA:93262
HP:0000549	Abnormal conjugate eye movement	2261	FGFR3	OMIM:602849
HP:0000549	Abnormal conjugate eye movement	9949	AMMECR1	OMIM:300990
HP:0000549	Abnormal conjugate eye movement	9949	AMMECR1	ORPHA:86818
HP:0000549	Abnormal conjugate eye movement	2074	ERCC6	OMIM:133540
HP:0000549	Abnormal conjugate eye movement	2074	ERCC6	ORPHA:90324
HP:0000549	Abnormal conjugate eye movement	2074	ERCC6	ORPHA:90321
HP:0000549	Abnormal conjugate eye movement	2074	ERCC6	ORPHA:90322
HP:0000549	Abnormal conjugate eye movement	2074	ERCC6	OMIM:278800
HP:0000549	Abnormal conjugate eye movement	22827	PUF60	ORPHA:508498
HP:0000549	Abnormal conjugate eye movement	22827	PUF60	ORPHA:508488
HP:0000549	Abnormal conjugate eye movement	51574	LARP7	OMIM:615071
HP:0000549	Abnormal conjugate eye movement	51574	LARP7	ORPHA:319671
HP:0000549	Abnormal conjugate eye movement	57459	GATAD2B	OMIM:615074
HP:0000549	Abnormal conjugate eye movement	57459	GATAD2B	ORPHA:363686
HP:0000549	Abnormal conjugate eye movement	56896	DPYSL5	OMIM:619435
HP:0000549	Abnormal conjugate eye movement	10765	KDM5B	OMIM:618109
HP:0000549	Abnormal conjugate eye movement	8573	CASK	OMIM:300749
HP:0000549	Abnormal conjugate eye movement	8573	CASK	ORPHA:163937
HP:0000549	Abnormal conjugate eye movement	8573	CASK	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	6418	SET	OMIM:618106
HP:0000549	Abnormal conjugate eye movement	55746	NUP133	OMIM:618349
HP:0000549	Abnormal conjugate eye movement	9526	MPDU1	OMIM:609180
HP:0000549	Abnormal conjugate eye movement	50814	NSDHL	ORPHA:251383
HP:0000549	Abnormal conjugate eye movement	50814	NSDHL	OMIM:300831
HP:0000549	Abnormal conjugate eye movement	7681	MKRN3	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	3653	IPW	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	54551	MAGEL2	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	54551	MAGEL2	ORPHA:398069
HP:0000549	Abnormal conjugate eye movement	54551	MAGEL2	ORPHA:98754
HP:0000549	Abnormal conjugate eye movement	54551	MAGEL2	ORPHA:177904
HP:0000549	Abnormal conjugate eye movement	54551	MAGEL2	ORPHA:177901
HP:0000549	Abnormal conjugate eye movement	791114	PWRN1	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	100033413	SNORD116-1	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	8924	HERC2	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	8924	HERC2	OMIM:615516
HP:0000549	Abnormal conjugate eye movement	145624	PWAR1	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	23742	NPAP1	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	338433	SNORD115-1	OMIM:176270
HP:0000549	Abnormal conjugate eye movement	128869	PIGU	OMIM:618590
HP:0000549	Abnormal conjugate eye movement	27125	AFF4	ORPHA:444077
HP:0000549	Abnormal conjugate eye movement	2972	BRF1	ORPHA:444072
HP:0000549	Abnormal conjugate eye movement	2972	BRF1	OMIM:616202
HP:0000549	Abnormal conjugate eye movement	11277	TREX1	OMIM:225750
HP:0000549	Abnormal conjugate eye movement	116461	TSEN15	OMIM:617026
HP:0000549	Abnormal conjugate eye movement	57520	HECW2	OMIM:617268
HP:0000549	Abnormal conjugate eye movement	8492	PRSS12	OMIM:249500
HP:0000549	Abnormal conjugate eye movement	6492	SIM1	ORPHA:171829
HP:0000549	Abnormal conjugate eye movement	6492	SIM1	ORPHA:398079
HP:0000549	Abnormal conjugate eye movement	4952	OCRL	ORPHA:534
HP:0000549	Abnormal conjugate eye movement	7337	UBE3A	ORPHA:98794
HP:0000549	Abnormal conjugate eye movement	7337	UBE3A	ORPHA:411511
HP:0000549	Abnormal conjugate eye movement	7337	UBE3A	OMIM:105830
HP:0000549	Abnormal conjugate eye movement	4948	OCA2	ORPHA:98794
HP:0000549	Abnormal conjugate eye movement	4948	OCA2	ORPHA:98754
HP:0000549	Abnormal conjugate eye movement	4948	OCA2	ORPHA:177904
HP:0000549	Abnormal conjugate eye movement	4948	OCA2	ORPHA:177901
HP:0000549	Abnormal conjugate eye movement	4948	OCA2	OMIM:203200
HP:0000549	Abnormal conjugate eye movement	5934	RBL2	OMIM:619690
HP:0000549	Abnormal conjugate eye movement	5980	REV3L	ORPHA:570
HP:0000549	Abnormal conjugate eye movement	23129	PLXND1	ORPHA:570
HP:0000549	Abnormal conjugate eye movement	347733	TUBB2B	ORPHA:467166
HP:0000549	Abnormal conjugate eye movement	347733	TUBB2B	ORPHA:1766
HP:0000549	Abnormal conjugate eye movement	347733	TUBB2B	ORPHA:300573
HP:0000549	Abnormal conjugate eye movement	7846	TUBA1A	ORPHA:467166
HP:0000549	Abnormal conjugate eye movement	7846	TUBA1A	ORPHA:171680
HP:0000549	Abnormal conjugate eye movement	10381	TUBB3	ORPHA:467166
HP:0000549	Abnormal conjugate eye movement	10381	TUBB3	OMIM:614039
HP:0000549	Abnormal conjugate eye movement	10381	TUBB3	ORPHA:300570
HP:0000549	Abnormal conjugate eye movement	8888	MCM3AP	OMIM:618124
HP:0000549	Abnormal conjugate eye movement	51434	ANAPC7	OMIM:619699
HP:0000549	Abnormal conjugate eye movement	4998	ORC1	OMIM:224690
HP:0000549	Abnormal conjugate eye movement	5308	PITX2	OMIM:180500
HP:0000549	Abnormal conjugate eye movement	5308	PITX2	ORPHA:708
HP:0000549	Abnormal conjugate eye movement	1312	COMT	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	221037	JMJD1C	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	2812	GP1BB	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	6239	RREB1	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	6899	TBX1	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	7290	HIRA	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	9632	SEC24C	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	7353	UFD1	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	421	ARVCF	ORPHA:567
HP:0000549	Abnormal conjugate eye movement	1009	CDH11	OMIM:211380
HP:0000549	Abnormal conjugate eye movement	1009	CDH11	ORPHA:1299
HP:0000549	Abnormal conjugate eye movement	3858	KRT10	OMIM:609165
HP:0000549	Abnormal conjugate eye movement	6045	RNF2	OMIM:619460
HP:0000549	Abnormal conjugate eye movement	2068	ERCC2	OMIM:601675
HP:0000549	Abnormal conjugate eye movement	2068	ERCC2	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	2068	ERCC2	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	1301	COL11A1	ORPHA:560
HP:0000549	Abnormal conjugate eye movement	7086	TKT	OMIM:617044
HP:0000549	Abnormal conjugate eye movement	164	AP1G1	OMIM:619467
HP:0000549	Abnormal conjugate eye movement	9757	KMT2B	OMIM:617284
HP:0000549	Abnormal conjugate eye movement	9757	KMT2B	ORPHA:589618
HP:0000549	Abnormal conjugate eye movement	9757	KMT2B	OMIM:619934
HP:0000549	Abnormal conjugate eye movement	9758	FRMPD4	OMIM:300983
HP:0000549	Abnormal conjugate eye movement	8802	SUCLG1	ORPHA:17
HP:0000549	Abnormal conjugate eye movement	64374	SIL1	ORPHA:559
HP:0000549	Abnormal conjugate eye movement	64374	SIL1	OMIM:248800
HP:0000549	Abnormal conjugate eye movement	51763	INPP5K	ORPHA:559
HP:0000549	Abnormal conjugate eye movement	51763	INPP5K	OMIM:617404
HP:0000549	Abnormal conjugate eye movement	4763	NF1	ORPHA:97685
HP:0000549	Abnormal conjugate eye movement	84065	TMEM222	OMIM:619470
HP:0000549	Abnormal conjugate eye movement	9321	TRIP11	ORPHA:166272
HP:0000549	Abnormal conjugate eye movement	83480	PUS3	OMIM:617051
HP:0000549	Abnormal conjugate eye movement	83480	PUS3	ORPHA:488627
HP:0000549	Abnormal conjugate eye movement	9851	KIAA0753	OMIM:619476
HP:0000549	Abnormal conjugate eye movement	57498	KIDINS220	OMIM:617296
HP:0000549	Abnormal conjugate eye movement	57187	THOC2	OMIM:300957
HP:0000549	Abnormal conjugate eye movement	57187	THOC2	ORPHA:457240
HP:0000549	Abnormal conjugate eye movement	64840	PORCN	ORPHA:2092
HP:0000549	Abnormal conjugate eye movement	64840	PORCN	OMIM:305600
HP:0000549	Abnormal conjugate eye movement	54539	NDUFB11	OMIM:300952
HP:0000549	Abnormal conjugate eye movement	54539	NDUFB11	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	6711	SPTBN1	OMIM:619475
HP:0000549	Abnormal conjugate eye movement	80036	TRPM3	OMIM:620224
HP:0000549	Abnormal conjugate eye movement	57010	CABP4	OMIM:610427
HP:0000549	Abnormal conjugate eye movement	57010	CABP4	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	63895	PIEZO2	OMIM:108145
HP:0000549	Abnormal conjugate eye movement	63895	PIEZO2	OMIM:248700
HP:0000549	Abnormal conjugate eye movement	207	AKT1	ORPHA:744
HP:0000549	Abnormal conjugate eye movement	11198	SUPT16H	OMIM:619480
HP:0000549	Abnormal conjugate eye movement	283446	MYO1H	OMIM:619482
HP:0000549	Abnormal conjugate eye movement	84197	POMK	ORPHA:370959
HP:0000549	Abnormal conjugate eye movement	6872	TAF1	OMIM:300966
HP:0000549	Abnormal conjugate eye movement	6872	TAF1	ORPHA:480907
HP:0000549	Abnormal conjugate eye movement	8567	MADD	OMIM:619004
HP:0000549	Abnormal conjugate eye movement	4841	NONO	OMIM:300967
HP:0000549	Abnormal conjugate eye movement	4841	NONO	ORPHA:466791
HP:0000549	Abnormal conjugate eye movement	8239	USP9X	OMIM:300968
HP:0000549	Abnormal conjugate eye movement	8239	USP9X	ORPHA:480880
HP:0000549	Abnormal conjugate eye movement	8318	CDC45	OMIM:617063
HP:0000549	Abnormal conjugate eye movement	57477	SHROOM4	ORPHA:85288
HP:0000549	Abnormal conjugate eye movement	9508	ADAMTS3	OMIM:618154
HP:0000549	Abnormal conjugate eye movement	1654	DDX3X	OMIM:300958
HP:0000549	Abnormal conjugate eye movement	3419	IDH3A	OMIM:619007
HP:0000549	Abnormal conjugate eye movement	23096	IQSEC2	OMIM:309530
HP:0000549	Abnormal conjugate eye movement	23096	IQSEC2	ORPHA:819
HP:0000549	Abnormal conjugate eye movement	23096	IQSEC2	ORPHA:397933
HP:0000549	Abnormal conjugate eye movement	55717	WDR11	OMIM:620237
HP:0000549	Abnormal conjugate eye movement	3516	RBPJ	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	4851	NOTCH1	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	57514	ARHGAP31	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	57572	DOCK6	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	57572	DOCK6	OMIM:614219
HP:0000549	Abnormal conjugate eye movement	285203	EOGT	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	54567	DLL4	ORPHA:974
HP:0000549	Abnormal conjugate eye movement	673	BRAF	OMIM:613706
HP:0000549	Abnormal conjugate eye movement	673	BRAF	OMIM:115150
HP:0000549	Abnormal conjugate eye movement	673	BRAF	ORPHA:1340
HP:0000549	Abnormal conjugate eye movement	80267	EDEM3	OMIM:619493
HP:0000549	Abnormal conjugate eye movement	6748	SSR4	ORPHA:370927
HP:0000549	Abnormal conjugate eye movement	6748	SSR4	OMIM:300934
HP:0000549	Abnormal conjugate eye movement	6720	SREBF1	OMIM:619016
HP:0000549	Abnormal conjugate eye movement	10479	SLC9A6	ORPHA:85278
HP:0000549	Abnormal conjugate eye movement	10479	SLC9A6	OMIM:300243
HP:0000549	Abnormal conjugate eye movement	8242	KDM5C	ORPHA:85279
HP:0000549	Abnormal conjugate eye movement	8242	KDM5C	OMIM:300534
HP:0000549	Abnormal conjugate eye movement	89970	RSPRY1	ORPHA:457395
HP:0000549	Abnormal conjugate eye movement	89970	RSPRY1	OMIM:616723
HP:0000549	Abnormal conjugate eye movement	51594	NBAS	OMIM:614800
HP:0000549	Abnormal conjugate eye movement	8831	SYNGAP1	OMIM:612621
HP:0000549	Abnormal conjugate eye movement	54187	NANS	OMIM:610442
HP:0000549	Abnormal conjugate eye movement	284058	KANSL1	OMIM:610443
HP:0000549	Abnormal conjugate eye movement	284058	KANSL1	ORPHA:363958
HP:0000549	Abnormal conjugate eye movement	284058	KANSL1	ORPHA:363965
HP:0000549	Abnormal conjugate eye movement	11043	MID2	OMIM:300928
HP:0000549	Abnormal conjugate eye movement	10079	ATP9A	OMIM:620242
HP:0000549	Abnormal conjugate eye movement	2801	GOLGA2	OMIM:620240
HP:0000549	Abnormal conjugate eye movement	54936	ADPRS	OMIM:618170
HP:0000549	Abnormal conjugate eye movement	1513	CTSK	ORPHA:763
HP:0000549	Abnormal conjugate eye movement	55181	SMG8	OMIM:619268
HP:0000549	Abnormal conjugate eye movement	55294	FBXW7	OMIM:620012
HP:0000549	Abnormal conjugate eye movement	2260	FGFR1	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	2260	FGFR1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	2260	FGFR1	OMIM:101600
HP:0000549	Abnormal conjugate eye movement	128674	PROKR2	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	6658	SOX3	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	9915	ARNT2	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	8820	HESX1	ORPHA:3157
HP:0000549	Abnormal conjugate eye movement	8085	KMT2D	OMIM:147920
HP:0000549	Abnormal conjugate eye movement	8085	KMT2D	ORPHA:2322
HP:0000549	Abnormal conjugate eye movement	7403	KDM6A	OMIM:147920
HP:0000549	Abnormal conjugate eye movement	7403	KDM6A	ORPHA:2322
HP:0000549	Abnormal conjugate eye movement	7403	KDM6A	OMIM:300867
HP:0000549	Abnormal conjugate eye movement	6095	RORA	OMIM:618060
HP:0000549	Abnormal conjugate eye movement	1183	CLCN4	OMIM:300114
HP:0000549	Abnormal conjugate eye movement	1183	CLCN4	ORPHA:485350
HP:0000549	Abnormal conjugate eye movement	23241	PACS2	OMIM:618067
HP:0000549	Abnormal conjugate eye movement	7355	SLC35A2	ORPHA:356961
HP:0000549	Abnormal conjugate eye movement	84282	RNF135	ORPHA:137634
HP:0000549	Abnormal conjugate eye movement	57539	WDR35	OMIM:613610
HP:0000549	Abnormal conjugate eye movement	123263	MTFMT	OMIM:614947
HP:0000549	Abnormal conjugate eye movement	123263	MTFMT	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	9839	ZEB2	OMIM:235730
HP:0000549	Abnormal conjugate eye movement	9839	ZEB2	ORPHA:261552
HP:0000549	Abnormal conjugate eye movement	9839	ZEB2	ORPHA:261537
HP:0000549	Abnormal conjugate eye movement	64324	NSD1	ORPHA:821
HP:0000549	Abnormal conjugate eye movement	64324	NSD1	OMIM:117550
HP:0000549	Abnormal conjugate eye movement	29072	SETD2	ORPHA:821
HP:0000549	Abnormal conjugate eye movement	10297	APC2	ORPHA:821
HP:0000549	Abnormal conjugate eye movement	10093	ARPC4	OMIM:620141
HP:0000549	Abnormal conjugate eye movement	9241	NOG	ORPHA:3250
HP:0000549	Abnormal conjugate eye movement	9241	NOG	OMIM:186500
HP:0000549	Abnormal conjugate eye movement	8200	GDF5	ORPHA:3250
HP:0000549	Abnormal conjugate eye movement	80232	WDR26	ORPHA:513456
HP:0000549	Abnormal conjugate eye movement	80232	WDR26	OMIM:617616
HP:0000549	Abnormal conjugate eye movement	146167	SLC38A8	OMIM:609218
HP:0000549	Abnormal conjugate eye movement	1278	COL1A2	ORPHA:230851
HP:0000549	Abnormal conjugate eye movement	4010	LMX1B	ORPHA:495818
HP:0000549	Abnormal conjugate eye movement	6812	STXBP1	ORPHA:495818
HP:0000549	Abnormal conjugate eye movement	2314	FLII	ORPHA:819
HP:0000549	Abnormal conjugate eye movement	10522	DEAF1	ORPHA:819
HP:0000549	Abnormal conjugate eye movement	169522	KCNV2	OMIM:610356
HP:0000549	Abnormal conjugate eye movement	1717	DHCR7	ORPHA:818
HP:0000549	Abnormal conjugate eye movement	1717	DHCR7	OMIM:270400
HP:0000549	Abnormal conjugate eye movement	55780	ERMARD	ORPHA:75857
HP:0000549	Abnormal conjugate eye movement	55780	ERMARD	OMIM:615544
HP:0000549	Abnormal conjugate eye movement	10978	CLP1	OMIM:615803
HP:0000549	Abnormal conjugate eye movement	10978	CLP1	ORPHA:411493
HP:0000549	Abnormal conjugate eye movement	5979	RET	ORPHA:99803
HP:0000549	Abnormal conjugate eye movement	429	ASCL1	ORPHA:99803
HP:0000549	Abnormal conjugate eye movement	8929	PHOX2B	ORPHA:99803
HP:0000549	Abnormal conjugate eye movement	10225	CD96	OMIM:211750
HP:0000549	Abnormal conjugate eye movement	10225	CD96	ORPHA:1308
HP:0000549	Abnormal conjugate eye movement	271	AMPD2	OMIM:615809
HP:0000549	Abnormal conjugate eye movement	63915	BLOC1S5	OMIM:619172
HP:0000549	Abnormal conjugate eye movement	56992	KIF15	ORPHA:261323
HP:0000549	Abnormal conjugate eye movement	8913	CACNA1G	OMIM:618087
HP:0000549	Abnormal conjugate eye movement	8913	CACNA1G	ORPHA:458803
HP:0000549	Abnormal conjugate eye movement	80204	FBXO11	OMIM:618089
HP:0000549	Abnormal conjugate eye movement	1716	DGUOK	ORPHA:329314
HP:0000549	Abnormal conjugate eye movement	23325	WASHC4	OMIM:615817
HP:0000549	Abnormal conjugate eye movement	672	BRCA1	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	10459	MAD2L2	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	7516	XRCC2	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	29089	UBE2T	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	675	BRCA2	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	55120	FANCL	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2177	FANCD2	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2177	FANCD2	OMIM:227646
HP:0000549	Abnormal conjugate eye movement	2175	FANCA	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2175	FANCA	OMIM:227650
HP:0000549	Abnormal conjugate eye movement	2187	FANCB	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2176	FANCC	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2176	FANCC	OMIM:227645
HP:0000549	Abnormal conjugate eye movement	2178	FANCE	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2178	FANCE	OMIM:600901
HP:0000549	Abnormal conjugate eye movement	2188	FANCF	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2189	FANCG	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	5888	RAD51	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	5889	RAD51C	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	55159	RFWD3	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	83990	BRIP1	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	57697	FANCM	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	79728	PALB2	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	84464	SLX4	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2072	ERCC4	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	2072	ERCC4	ORPHA:90321
HP:0000549	Abnormal conjugate eye movement	2072	ERCC4	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	55215	FANCI	ORPHA:84
HP:0000549	Abnormal conjugate eye movement	222663	SCUBE3	OMIM:619184
HP:0000549	Abnormal conjugate eye movement	23400	ATP13A2	ORPHA:513436
HP:0000549	Abnormal conjugate eye movement	79152	FA2H	ORPHA:329308
HP:0000549	Abnormal conjugate eye movement	79152	FA2H	OMIM:612319
HP:0000549	Abnormal conjugate eye movement	6999	TDO2	OMIM:600627
HP:0000549	Abnormal conjugate eye movement	23036	ZNF292	OMIM:619188
HP:0000549	Abnormal conjugate eye movement	6885	MAP3K7	OMIM:157800
HP:0000549	Abnormal conjugate eye movement	7020	TFAP2A	ORPHA:1297
HP:0000549	Abnormal conjugate eye movement	7020	TFAP2A	OMIM:113620
HP:0000549	Abnormal conjugate eye movement	11160	ERLIN2	OMIM:611225
HP:0000549	Abnormal conjugate eye movement	83879	CDCA7	OMIM:616910
HP:0000549	Abnormal conjugate eye movement	25942	SIN3A	OMIM:613406
HP:0000549	Abnormal conjugate eye movement	25942	SIN3A	ORPHA:94065
HP:0000549	Abnormal conjugate eye movement	53834	FGFRL1	OMIM:194190
HP:0000549	Abnormal conjugate eye movement	1487	CTBP1	OMIM:194190
HP:0000549	Abnormal conjugate eye movement	1487	CTBP1	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	3954	LETM1	OMIM:194190
HP:0000549	Abnormal conjugate eye movement	3954	LETM1	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	7468	NSD2	OMIM:194190
HP:0000549	Abnormal conjugate eye movement	7468	NSD2	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	10815	CPLX1	OMIM:194190
HP:0000549	Abnormal conjugate eye movement	10815	CPLX1	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	10815	CPLX1	OMIM:617976
HP:0000549	Abnormal conjugate eye movement	9487	PIGL	ORPHA:3474
HP:0000549	Abnormal conjugate eye movement	9487	PIGL	OMIM:280000
HP:0000549	Abnormal conjugate eye movement	54496	PRMT7	ORPHA:464288
HP:0000549	Abnormal conjugate eye movement	54496	PRMT7	OMIM:617157
HP:0000549	Abnormal conjugate eye movement	165	AEBP1	ORPHA:536532
HP:0000549	Abnormal conjugate eye movement	3192	HNRNPU	ORPHA:238769
HP:0000549	Abnormal conjugate eye movement	1798	DPAGT1	ORPHA:86309
HP:0000549	Abnormal conjugate eye movement	7025	NR2F1	ORPHA:401777
HP:0000549	Abnormal conjugate eye movement	7025	NR2F1	OMIM:615722
HP:0000549	Abnormal conjugate eye movement	51114	ZDHHC9	OMIM:300799
HP:0000549	Abnormal conjugate eye movement	116442	RAB39B	ORPHA:2379
HP:0000549	Abnormal conjugate eye movement	23533	PIK3R5	ORPHA:64753
HP:0000549	Abnormal conjugate eye movement	23064	SETX	ORPHA:64753
HP:0000549	Abnormal conjugate eye movement	23064	SETX	OMIM:606002
HP:0000549	Abnormal conjugate eye movement	10908	PNPLA6	ORPHA:2377
HP:0000549	Abnormal conjugate eye movement	26053	AUTS2	OMIM:615834
HP:0000549	Abnormal conjugate eye movement	26053	AUTS2	ORPHA:352490
HP:0000549	Abnormal conjugate eye movement	79753	SNIP1	OMIM:614501
HP:0000549	Abnormal conjugate eye movement	1650	DDOST	OMIM:614507
HP:0000549	Abnormal conjugate eye movement	23345	SYNE1	ORPHA:319332
HP:0000549	Abnormal conjugate eye movement	23345	SYNE1	ORPHA:88644
HP:0000549	Abnormal conjugate eye movement	23345	SYNE1	OMIM:610743
HP:0000549	Abnormal conjugate eye movement	23345	SYNE1	OMIM:618484
HP:0000549	Abnormal conjugate eye movement	54499	TMCO1	OMIM:213980
HP:0000549	Abnormal conjugate eye movement	54499	TMCO1	ORPHA:1394
HP:0000549	Abnormal conjugate eye movement	2259	FGF14	ORPHA:98764
HP:0000549	Abnormal conjugate eye movement	2259	FGF14	OMIM:193003
HP:0000549	Abnormal conjugate eye movement	492	ATP2B3	OMIM:302500
HP:0000549	Abnormal conjugate eye movement	492	ATP2B3	ORPHA:314978
HP:0000549	Abnormal conjugate eye movement	4784	NFIX	OMIM:614753
HP:0000549	Abnormal conjugate eye movement	4784	NFIX	ORPHA:420179
HP:0000549	Abnormal conjugate eye movement	440138	ALG11	OMIM:613661
HP:0000549	Abnormal conjugate eye movement	440138	ALG11	ORPHA:280071
HP:0000549	Abnormal conjugate eye movement	182	JAG1	OMIM:118450
HP:0000549	Abnormal conjugate eye movement	55906	ZC4H2	ORPHA:3454
HP:0000549	Abnormal conjugate eye movement	6638	SNRPN	ORPHA:98754
HP:0000549	Abnormal conjugate eye movement	6638	SNRPN	ORPHA:177904
HP:0000549	Abnormal conjugate eye movement	6638	SNRPN	ORPHA:177901
HP:0000549	Abnormal conjugate eye movement	6638	SNRPN	ORPHA:177907
HP:0000549	Abnormal conjugate eye movement	6638	SNRPN	OMIM:105830
HP:0000549	Abnormal conjugate eye movement	4692	NDN	ORPHA:98754
HP:0000549	Abnormal conjugate eye movement	4692	NDN	ORPHA:177904
HP:0000549	Abnormal conjugate eye movement	4692	NDN	ORPHA:177901
HP:0000549	Abnormal conjugate eye movement	8813	DPM1	OMIM:608799
HP:0000549	Abnormal conjugate eye movement	8813	DPM1	ORPHA:79322
HP:0000549	Abnormal conjugate eye movement	55670	PEX26	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5824	PEX19	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5828	PEX2	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	8504	PEX3	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	9409	PEX16	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5190	PEX6	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	8799	PEX11B	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5830	PEX5	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5189	PEX1	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5193	PEX12	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5194	PEX13	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5195	PEX14	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	5192	PEX10	ORPHA:44
HP:0000549	Abnormal conjugate eye movement	55084	SOBP	OMIM:613671
HP:0000549	Abnormal conjugate eye movement	6949	TCOF1	OMIM:154500
HP:0000549	Abnormal conjugate eye movement	6949	TCOF1	ORPHA:861
HP:0000549	Abnormal conjugate eye movement	27086	FOXP1	OMIM:613670
HP:0000549	Abnormal conjugate eye movement	27086	FOXP1	ORPHA:391372
HP:0000549	Abnormal conjugate eye movement	340024	SLC6A19	ORPHA:2116
HP:0000549	Abnormal conjugate eye movement	57393	CLTRN	ORPHA:2116
HP:0000549	Abnormal conjugate eye movement	55275	VPS53	OMIM:615851
HP:0000549	Abnormal conjugate eye movement	2146	EZH2	OMIM:277590
HP:0000549	Abnormal conjugate eye movement	64116	SLC39A8	ORPHA:468699
HP:0000549	Abnormal conjugate eye movement	64116	SLC39A8	OMIM:616721
HP:0000549	Abnormal conjugate eye movement	2776	GNAQ	ORPHA:3205
HP:0000549	Abnormal conjugate eye movement	8943	AP3D1	ORPHA:54
HP:0000549	Abnormal conjugate eye movement	8943	AP3D1	ORPHA:1000
HP:0000549	Abnormal conjugate eye movement	4935	GPR143	ORPHA:54
HP:0000549	Abnormal conjugate eye movement	171023	ASXL1	OMIM:605039
HP:0000549	Abnormal conjugate eye movement	55023	PHIP	ORPHA:589905
HP:0000549	Abnormal conjugate eye movement	55023	PHIP	OMIM:617991
HP:0000549	Abnormal conjugate eye movement	2316	FLNA	OMIM:309350
HP:0000549	Abnormal conjugate eye movement	2316	FLNA	OMIM:300049
HP:0000549	Abnormal conjugate eye movement	51134	CEP83	OMIM:615862
HP:0000549	Abnormal conjugate eye movement	22907	DHX30	OMIM:617804
HP:0000549	Abnormal conjugate eye movement	9990	SLC12A6	ORPHA:1496
HP:0000549	Abnormal conjugate eye movement	7319	UBE2A	ORPHA:163956
HP:0000549	Abnormal conjugate eye movement	57165	GJC2	OMIM:613206
HP:0000549	Abnormal conjugate eye movement	57165	GJC2	ORPHA:320401
HP:0000549	Abnormal conjugate eye movement	339453	TMEM240	OMIM:607454
HP:0000549	Abnormal conjugate eye movement	9230	RAB11B	OMIM:617807
HP:0000549	Abnormal conjugate eye movement	7490	WT1	OMIM:106210
HP:0000549	Abnormal conjugate eye movement	5080	PAX6	OMIM:106210
HP:0000549	Abnormal conjugate eye movement	5080	PAX6	ORPHA:35737
HP:0000549	Abnormal conjugate eye movement	5080	PAX6	ORPHA:708
HP:0000549	Abnormal conjugate eye movement	5080	PAX6	ORPHA:2253
HP:0000549	Abnormal conjugate eye movement	5080	PAX6	OMIM:604229
HP:0000549	Abnormal conjugate eye movement	10075	HUWE1	OMIM:309590
HP:0000549	Abnormal conjugate eye movement	6513	SLC2A1	ORPHA:71277
HP:0000549	Abnormal conjugate eye movement	2245	FGD1	OMIM:305400
HP:0000549	Abnormal conjugate eye movement	2245	FGD1	ORPHA:915
HP:0000549	Abnormal conjugate eye movement	124997	WDR81	OMIM:610185
HP:0000549	Abnormal conjugate eye movement	124997	WDR81	ORPHA:1766
HP:0000549	Abnormal conjugate eye movement	79848	CSPP1	OMIM:615636
HP:0000549	Abnormal conjugate eye movement	79848	CSPP1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	29123	ANKRD11	ORPHA:2332
HP:0000549	Abnormal conjugate eye movement	29123	ANKRD11	ORPHA:261250
HP:0000549	Abnormal conjugate eye movement	6334	SCN8A	OMIM:614306
HP:0000549	Abnormal conjugate eye movement	4308	TRPM1	OMIM:613216
HP:0000549	Abnormal conjugate eye movement	4308	TRPM1	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	10586	MAB21L2	OMIM:615877
HP:0000549	Abnormal conjugate eye movement	23028	KDM1A	OMIM:616728
HP:0000549	Abnormal conjugate eye movement	23028	KDM1A	ORPHA:477993
HP:0000549	Abnormal conjugate eye movement	4693	NDP	ORPHA:91495
HP:0000549	Abnormal conjugate eye movement	4693	NDP	ORPHA:190
HP:0000549	Abnormal conjugate eye movement	220202	ATOH7	ORPHA:91495
HP:0000549	Abnormal conjugate eye movement	8322	FZD4	ORPHA:91495
HP:0000549	Abnormal conjugate eye movement	55593	OTUD5	OMIM:301056
HP:0000549	Abnormal conjugate eye movement	84162	BLTP1	OMIM:617822
HP:0000549	Abnormal conjugate eye movement	2902	GRIN1	OMIM:617820
HP:0000549	Abnormal conjugate eye movement	2902	GRIN1	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	23291	FBXW11	OMIM:618914
HP:0000549	Abnormal conjugate eye movement	2782	GNB1	OMIM:616973
HP:0000549	Abnormal conjugate eye movement	2782	GNB1	ORPHA:488613
HP:0000549	Abnormal conjugate eye movement	5076	PAX2	ORPHA:1475
HP:0000549	Abnormal conjugate eye movement	5076	PAX2	OMIM:120330
HP:0000549	Abnormal conjugate eye movement	10413	YAP1	ORPHA:1473
HP:0000549	Abnormal conjugate eye movement	50	ACO2	OMIM:614559
HP:0000549	Abnormal conjugate eye movement	10982	MAPRE2	OMIM:616734
HP:0000549	Abnormal conjugate eye movement	767	CA8	OMIM:613227
HP:0000549	Abnormal conjugate eye movement	767	CA8	ORPHA:1766
HP:0000549	Abnormal conjugate eye movement	84679	SLC9A7	OMIM:301024
HP:0000549	Abnormal conjugate eye movement	2239	GPC4	OMIM:301026
HP:0000549	Abnormal conjugate eye movement	2332	FMR1	ORPHA:449291
HP:0000549	Abnormal conjugate eye movement	2332	FMR1	ORPHA:908
HP:0000549	Abnormal conjugate eye movement	2200	FBN1	OMIM:154700
HP:0000549	Abnormal conjugate eye movement	2200	FBN1	ORPHA:2833
HP:0000549	Abnormal conjugate eye movement	2200	FBN1	ORPHA:2462
HP:0000549	Abnormal conjugate eye movement	63035	BCORL1	OMIM:301029
HP:0000549	Abnormal conjugate eye movement	85358	SHANK3	ORPHA:48652
HP:0000549	Abnormal conjugate eye movement	85358	SHANK3	OMIM:606232
HP:0000549	Abnormal conjugate eye movement	440435	GPR179	OMIM:614565
HP:0000549	Abnormal conjugate eye movement	440435	GPR179	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6597	SMARCA4	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	6598	SMARCB1	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	6659	SOX4	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	8289	ARID1A	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	8289	ARID1A	OMIM:614607
HP:0000549	Abnormal conjugate eye movement	5977	DPF2	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	5977	DPF2	OMIM:618027
HP:0000549	Abnormal conjugate eye movement	6601	SMARCC2	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	6602	SMARCD1	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	57492	ARID1B	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	57492	ARID1B	OMIM:135900
HP:0000549	Abnormal conjugate eye movement	196528	ARID2	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	6605	SMARCE1	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	6664	SOX11	ORPHA:1465
HP:0000549	Abnormal conjugate eye movement	9378	NRXN1	OMIM:614325
HP:0000549	Abnormal conjugate eye movement	259232	NALCN	OMIM:615419
HP:0000549	Abnormal conjugate eye movement	259232	NALCN	OMIM:616266
HP:0000549	Abnormal conjugate eye movement	259232	NALCN	ORPHA:2053
HP:0000549	Abnormal conjugate eye movement	259232	NALCN	ORPHA:371364
HP:0000549	Abnormal conjugate eye movement	79583	TMEM231	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	51524	TMEM138	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	23090	ZNF423	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	80184	CEP290	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	51259	TMEM216	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	57545	CC2D2A	ORPHA:2318
HP:0000549	Abnormal conjugate eye movement	57545	CC2D2A	ORPHA:1454
HP:0000549	Abnormal conjugate eye movement	57545	CC2D2A	OMIM:619111
HP:0000549	Abnormal conjugate eye movement	1000	CDH2	OMIM:618929
HP:0000549	Abnormal conjugate eye movement	10804	GJB6	OMIM:129500
HP:0000549	Abnormal conjugate eye movement	545	ATR	OMIM:210600
HP:0000549	Abnormal conjugate eye movement	91147	TMEM67	ORPHA:1454
HP:0000549	Abnormal conjugate eye movement	91147	TMEM67	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	91147	TMEM67	OMIM:613550
HP:0000549	Abnormal conjugate eye movement	149461	CLDN19	OMIM:248190
HP:0000549	Abnormal conjugate eye movement	57531	HACE1	OMIM:616756
HP:0000549	Abnormal conjugate eye movement	2313	FLI1	ORPHA:2308
HP:0000549	Abnormal conjugate eye movement	9361	LONP1	ORPHA:1458
HP:0000549	Abnormal conjugate eye movement	4758	NEU1	ORPHA:93400
HP:0000549	Abnormal conjugate eye movement	4758	NEU1	ORPHA:93399
HP:0000549	Abnormal conjugate eye movement	23476	BRD4	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	9126	SMC3	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	8243	SMC1A	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	55869	HDAC8	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	5885	RAD21	ORPHA:199
HP:0000549	Abnormal conjugate eye movement	6197	RPS6KA3	ORPHA:192
HP:0000549	Abnormal conjugate eye movement	10664	CTCF	ORPHA:363611
HP:0000549	Abnormal conjugate eye movement	10664	CTCF	OMIM:615502
HP:0000549	Abnormal conjugate eye movement	157680	VPS13B	ORPHA:193
HP:0000549	Abnormal conjugate eye movement	9150	CTDP1	ORPHA:48431
HP:0000549	Abnormal conjugate eye movement	81689	ISCA1	OMIM:617613
HP:0000549	Abnormal conjugate eye movement	1103	CHAT	OMIM:254210
HP:0000549	Abnormal conjugate eye movement	1861	TOR1A	OMIM:618947
HP:0000549	Abnormal conjugate eye movement	998	CDC42	ORPHA:487796
HP:0000549	Abnormal conjugate eye movement	8936	WASF1	OMIM:618707
HP:0000549	Abnormal conjugate eye movement	23545	ATP6V0A2	OMIM:219200
HP:0000549	Abnormal conjugate eye movement	23545	ATP6V0A2	ORPHA:357074
HP:0000549	Abnormal conjugate eye movement	23556	PIGN	ORPHA:280633
HP:0000549	Abnormal conjugate eye movement	55617	TASP1	OMIM:618950
HP:0000549	Abnormal conjugate eye movement	122553	TRAPPC6B	OMIM:617862
HP:0000549	Abnormal conjugate eye movement	92335	STRADA	OMIM:611087
HP:0000549	Abnormal conjugate eye movement	57688	ZSWIM6	OMIM:617865
HP:0000549	Abnormal conjugate eye movement	1806	DPYD	ORPHA:1675
HP:0000549	Abnormal conjugate eye movement	2893	GRIA4	OMIM:617864
HP:0000549	Abnormal conjugate eye movement	219285	SAMD9L	OMIM:619806
HP:0000549	Abnormal conjugate eye movement	5456	POU3F4	ORPHA:1435
HP:0000549	Abnormal conjugate eye movement	55691	FRMD4A	ORPHA:466688
HP:0000549	Abnormal conjugate eye movement	55691	FRMD4A	OMIM:616819
HP:0000549	Abnormal conjugate eye movement	6389	SDHA	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	80704	SLC19A3	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	91942	NDUFAF2	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	91942	NDUFAF2	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	6834	SURF1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4723	NDUFV1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4723	NDUFV1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4723	NDUFV1	OMIM:618225
HP:0000549	Abnormal conjugate eye movement	55572	FOXRED1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	55572	FOXRED1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4729	NDUFV2	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4729	NDUFV2	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	55967	NDUFA12	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	51204	TACO1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4720	NDUFS2	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4720	NDUFS2	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4724	NDUFS4	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4724	NDUFS4	OMIM:252010
HP:0000549	Abnormal conjugate eye movement	4724	NDUFS4	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4728	NDUFS8	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4728	NDUFS8	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	137682	NDUFAF6	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4722	NDUFS3	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4722	NDUFS3	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	79133	NDUFAF5	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	79133	NDUFAF5	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	5160	PDHA1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	100131801	PET100	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	1355	COX15	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	1892	ECHS1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	51079	NDUFA13	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	374291	NDUFS7	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	374291	NDUFS7	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4705	NDUFA10	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	51601	LIPT1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4719	NDUFS1	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4719	NDUFS1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4719	NDUFS1	OMIM:618226
HP:0000549	Abnormal conjugate eye movement	4695	NDUFA2	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4697	NDUFA4	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	4704	NDUFA9	ORPHA:255241
HP:0000549	Abnormal conjugate eye movement	1123	CHN1	OMIM:604356
HP:0000549	Abnormal conjugate eye movement	1123	CHN1	ORPHA:233
HP:0000549	Abnormal conjugate eye movement	54888	NSUN2	OMIM:611091
HP:0000549	Abnormal conjugate eye movement	54888	NSUN2	ORPHA:235
HP:0000549	Abnormal conjugate eye movement	6651	SON	ORPHA:500150
HP:0000549	Abnormal conjugate eye movement	6651	SON	OMIM:617140
HP:0000549	Abnormal conjugate eye movement	55733	HHAT	ORPHA:1422
HP:0000549	Abnormal conjugate eye movement	387	RHOA	OMIM:618727
HP:0000549	Abnormal conjugate eye movement	8777	MPDZ	OMIM:615219
HP:0000549	Abnormal conjugate eye movement	85378	TUBGCP6	ORPHA:2518
HP:0000549	Abnormal conjugate eye movement	27229	TUBGCP4	ORPHA:2518
HP:0000549	Abnormal conjugate eye movement	10733	PLK4	ORPHA:2518
HP:0000549	Abnormal conjugate eye movement	23389	MED13L	OMIM:616789
HP:0000549	Abnormal conjugate eye movement	1788	DNMT3A	OMIM:618724
HP:0000549	Abnormal conjugate eye movement	4621	MYH3	ORPHA:2990
HP:0000549	Abnormal conjugate eye movement	4621	MYH3	OMIM:193700
HP:0000549	Abnormal conjugate eye movement	4621	MYH3	ORPHA:2053
HP:0000549	Abnormal conjugate eye movement	1146	CHRNG	ORPHA:2990
HP:0000549	Abnormal conjugate eye movement	9939	RBM8A	OMIM:274000
HP:0000549	Abnormal conjugate eye movement	1302	COL11A2	ORPHA:1427
HP:0000549	Abnormal conjugate eye movement	3778	KCNMA1	OMIM:618729
HP:0000549	Abnormal conjugate eye movement	9451	EIF2AK3	ORPHA:1667
HP:0000549	Abnormal conjugate eye movement	8139	GAN	OMIM:256850
HP:0000549	Abnormal conjugate eye movement	87178	PNPT1	OMIM:608703
HP:0000549	Abnormal conjugate eye movement	87178	PNPT1	ORPHA:101111
HP:0000549	Abnormal conjugate eye movement	11141	IL1RAPL1	OMIM:300143
HP:0000549	Abnormal conjugate eye movement	1968	EIF2S3	OMIM:300148
HP:0000549	Abnormal conjugate eye movement	57647	DHX37	OMIM:618731
HP:0000549	Abnormal conjugate eye movement	5087	PBX1	OMIM:617641
HP:0000549	Abnormal conjugate eye movement	7545	ZIC1	OMIM:618736
HP:0000549	Abnormal conjugate eye movement	7545	ZIC1	OMIM:616602
HP:0000549	Abnormal conjugate eye movement	4281	MID1	ORPHA:2745
HP:0000549	Abnormal conjugate eye movement	8398	PLA2G6	OMIM:256600
HP:0000549	Abnormal conjugate eye movement	8398	PLA2G6	ORPHA:35069
HP:0000549	Abnormal conjugate eye movement	529	ATP6V1E1	OMIM:617402
HP:0000549	Abnormal conjugate eye movement	529	ATP6V1E1	ORPHA:357074
HP:0000549	Abnormal conjugate eye movement	170302	ARX	ORPHA:2508
HP:0000549	Abnormal conjugate eye movement	170302	ARX	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	170302	ARX	OMIM:300004
HP:0000549	Abnormal conjugate eye movement	1001	CDH3	ORPHA:1897
HP:0000549	Abnormal conjugate eye movement	1409	CRYAA	OMIM:604219
HP:0000549	Abnormal conjugate eye movement	7528	YY1	ORPHA:506358
HP:0000549	Abnormal conjugate eye movement	7528	YY1	OMIM:617557
HP:0000549	Abnormal conjugate eye movement	8036	SHOC2	OMIM:607721
HP:0000549	Abnormal conjugate eye movement	25915	NDUFAF3	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	51103	NDUFAF1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	51300	TIMMDC1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4716	NDUFB10	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	284184	NDUFAF8	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	55863	TMEM126B	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4535	MT-ND1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4537	MT-ND3	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4694	NDUFA1	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4726	NDUFS6	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	126328	NDUFA11	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4709	NDUFB3	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	80224	NUBPL	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	80224	NUBPL	OMIM:618242
HP:0000549	Abnormal conjugate eye movement	29078	NDUFAF4	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4700	NDUFA6	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4536	MT-ND2	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	4715	NDUFB9	ORPHA:2609
HP:0000549	Abnormal conjugate eye movement	8367	H4C5	OMIM:619950
HP:0000549	Abnormal conjugate eye movement	8294	H4C9	OMIM:619951
HP:0000549	Abnormal conjugate eye movement	2132	EXT2	OMIM:616682
HP:0000549	Abnormal conjugate eye movement	2132	EXT2	ORPHA:52022
HP:0000549	Abnormal conjugate eye movement	23446	SLC44A1	OMIM:618868
HP:0000549	Abnormal conjugate eye movement	10054	UBA2	OMIM:619959
HP:0000549	Abnormal conjugate eye movement	60684	TRAPPC11	OMIM:615356
HP:0000549	Abnormal conjugate eye movement	60684	TRAPPC11	ORPHA:369847
HP:0000549	Abnormal conjugate eye movement	5361	PLXNA1	OMIM:619955
HP:0000549	Abnormal conjugate eye movement	22800	RRAS2	OMIM:618624
HP:0000549	Abnormal conjugate eye movement	22800	RRAS2	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	3008	H1-4	OMIM:617537
HP:0000549	Abnormal conjugate eye movement	3703	STT3A	OMIM:619714
HP:0000549	Abnormal conjugate eye movement	84942	WDR73	OMIM:251300
HP:0000549	Abnormal conjugate eye movement	1736	DKC1	OMIM:305000
HP:0000549	Abnormal conjugate eye movement	84570	COL25A1	ORPHA:91411
HP:0000549	Abnormal conjugate eye movement	79776	ZFHX4	ORPHA:91411
HP:0000549	Abnormal conjugate eye movement	51761	ATP8A2	ORPHA:1766
HP:0000549	Abnormal conjugate eye movement	2067	ERCC1	ORPHA:90322
HP:0000549	Abnormal conjugate eye movement	116931	MED12L	OMIM:618872
HP:0000549	Abnormal conjugate eye movement	3020	H3-3A	OMIM:619720
HP:0000549	Abnormal conjugate eye movement	79639	TMEM53	OMIM:619727
HP:0000549	Abnormal conjugate eye movement	10730	YME1L1	OMIM:617302
HP:0000549	Abnormal conjugate eye movement	57156	TMEM63C	OMIM:619966
HP:0000549	Abnormal conjugate eye movement	23384	SPECC1L	ORPHA:1519
HP:0000549	Abnormal conjugate eye movement	6660	SOX5	ORPHA:313892
HP:0000549	Abnormal conjugate eye movement	6660	SOX5	OMIM:616803
HP:0000549	Abnormal conjugate eye movement	28514	DLL1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	2253	FGF8	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	6496	SIX3	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	7050	TGIF1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	4838	NODAL	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	6469	SHH	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	7546	ZIC2	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	2619	GAS1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	84976	DISP1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	2736	GLI2	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	8928	FOXH1	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	50937	CDON	ORPHA:280200
HP:0000549	Abnormal conjugate eye movement	55870	ASH1L	OMIM:617796
HP:0000549	Abnormal conjugate eye movement	816	CAMK2B	OMIM:617799
HP:0000549	Abnormal conjugate eye movement	815	CAMK2A	OMIM:617798
HP:0000549	Abnormal conjugate eye movement	64359	NXN	ORPHA:1507
HP:0000549	Abnormal conjugate eye movement	4920	ROR2	ORPHA:1507
HP:0000549	Abnormal conjugate eye movement	2626	GATA4	ORPHA:251071
HP:0000549	Abnormal conjugate eye movement	5566	PRKACA	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	5567	PRKACB	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	2735	GLI1	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	2121	EVC	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	51626	DYNC2LI1	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	132884	EVC2	ORPHA:289
HP:0000549	Abnormal conjugate eye movement	54872	PIGG	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	7469	NELFA	ORPHA:280
HP:0000549	Abnormal conjugate eye movement	283987	HID1	OMIM:619983
HP:0000549	Abnormal conjugate eye movement	1656	DDX6	OMIM:618653
HP:0000549	Abnormal conjugate eye movement	5442	POLRMT	OMIM:619743
HP:0000549	Abnormal conjugate eye movement	80208	SPG11	ORPHA:2822
HP:0000549	Abnormal conjugate eye movement	93627	TBCK	ORPHA:488632
HP:0000549	Abnormal conjugate eye movement	26057	ANKRD17	OMIM:619504
HP:0000549	Abnormal conjugate eye movement	9935	MAFB	ORPHA:233
HP:0000549	Abnormal conjugate eye movement	79600	TCTN1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	65250	CPLANE1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	200894	ARL13B	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	9731	CEP104	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	219844	HYLS1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	23247	KATNIP	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	219854	TMEM218	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	9786	KIAA0586	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	79867	TCTN2	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	80776	B9D2	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	10464	PIBF1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	80210	ARMC9	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	23116	TOGARAM1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	25776	CBY1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	27077	B9D1	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	403	ARL3	ORPHA:475
HP:0000549	Abnormal conjugate eye movement	3981	LIG4	ORPHA:235
HP:0000549	Abnormal conjugate eye movement	253738	EBF3	OMIM:617330
HP:0000549	Abnormal conjugate eye movement	56006	SMG9	OMIM:619995
HP:0000549	Abnormal conjugate eye movement	1182	CLCN3	OMIM:619512
HP:0000549	Abnormal conjugate eye movement	29081	METTL5	OMIM:618665
HP:0000549	Abnormal conjugate eye movement	8879	SGPL1	OMIM:617575
HP:0000549	Abnormal conjugate eye movement	51604	PIGT	OMIM:615398
HP:0000549	Abnormal conjugate eye movement	51604	PIGT	ORPHA:369837
HP:0000549	Abnormal conjugate eye movement	84504	NKX6-2	ORPHA:527497
HP:0000549	Abnormal conjugate eye movement	7862	BRPF1	OMIM:617333
HP:0000549	Abnormal conjugate eye movement	55699	IARS2	OMIM:616007
HP:0000549	Abnormal conjugate eye movement	4191	MDH2	OMIM:617339
HP:0000549	Abnormal conjugate eye movement	8364	H4C3	OMIM:619758
HP:0000549	Abnormal conjugate eye movement	8517	IKBKG	ORPHA:464
HP:0000549	Abnormal conjugate eye movement	8517	IKBKG	OMIM:308300
HP:0000549	Abnormal conjugate eye movement	56052	ALG1	ORPHA:79327
HP:0000549	Abnormal conjugate eye movement	26137	ZBTB20	OMIM:259050
HP:0000549	Abnormal conjugate eye movement	8314	BAP1	OMIM:619762
HP:0000549	Abnormal conjugate eye movement	11234	HPS5	OMIM:614074
HP:0000549	Abnormal conjugate eye movement	79803	HPS6	OMIM:614075
HP:0000549	Abnormal conjugate eye movement	53335	BCL11A	OMIM:617101
HP:0000549	Abnormal conjugate eye movement	4849	CNOT3	OMIM:618672
HP:0000549	Abnormal conjugate eye movement	59336	PRDM13	OMIM:619761
HP:0000549	Abnormal conjugate eye movement	6942	TCF20	OMIM:618430
HP:0000549	Abnormal conjugate eye movement	9158	FIBP	OMIM:617107
HP:0000549	Abnormal conjugate eye movement	9158	FIBP	ORPHA:500095
HP:0000549	Abnormal conjugate eye movement	773	CACNA1A	OMIM:617106
HP:0000549	Abnormal conjugate eye movement	22	ABCB7	ORPHA:2802
HP:0000549	Abnormal conjugate eye movement	2542	SLC37A4	OMIM:619525
HP:0000549	Abnormal conjugate eye movement	9338	TCEAL1	OMIM:301094
HP:0000549	Abnormal conjugate eye movement	6925	TCF4	OMIM:610954
HP:0000549	Abnormal conjugate eye movement	6925	TCF4	ORPHA:2896
HP:0000549	Abnormal conjugate eye movement	93589	CACNA2D4	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	2916	GRM6	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	5158	PDE6B	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6011	GRK1	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6011	GRK1	ORPHA:75382
HP:0000549	Abnormal conjugate eye movement	778	CACNA1F	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6010	RHO	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	9187	SLC24A1	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6295	SAG	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6295	SAG	ORPHA:75382
HP:0000549	Abnormal conjugate eye movement	2784	GNB3	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	2779	GNAT1	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	60506	NYX	ORPHA:215
HP:0000549	Abnormal conjugate eye movement	6785	ELOVL4	ORPHA:1955
HP:0000549	Abnormal conjugate eye movement	23314	SATB2	ORPHA:576283
HP:0000549	Abnormal conjugate eye movement	23314	SATB2	ORPHA:251019
HP:0000549	Abnormal conjugate eye movement	5373	PMM2	ORPHA:79318
HP:0000549	Abnormal conjugate eye movement	7030	TFE3	OMIM:301066
HP:0000549	Abnormal conjugate eye movement	23162	MAPK8IP3	OMIM:618443
HP:0000549	Abnormal conjugate eye movement	10463	SLC30A9	OMIM:617595
HP:0000549	Abnormal conjugate eye movement	8218	CLTCL1	ORPHA:453510
HP:0000549	Abnormal conjugate eye movement	2678	GGT1	OMIM:231950
HP:0000549	Abnormal conjugate eye movement	2006	ELN	ORPHA:90348
HP:0000549	Abnormal conjugate eye movement	2006	ELN	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	2006	ELN	OMIM:194050
HP:0000549	Abnormal conjugate eye movement	10516	FBLN5	ORPHA:90348
HP:0000549	Abnormal conjugate eye movement	5832	ALDH18A1	ORPHA:90348
HP:0000549	Abnormal conjugate eye movement	5832	ALDH18A1	OMIM:219150
HP:0000549	Abnormal conjugate eye movement	5832	ALDH18A1	OMIM:616603
HP:0000549	Abnormal conjugate eye movement	23219	FBXO28	OMIM:619777
HP:0000549	Abnormal conjugate eye movement	3930	LBR	OMIM:169400
HP:0000549	Abnormal conjugate eye movement	1107	CHD3	OMIM:618205
HP:0000549	Abnormal conjugate eye movement	404672	GTF2H5	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	833	CARS1	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	7737	RNF113A	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	136647	MPLKIP	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	6897	TARS1	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	2071	ERCC3	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	2071	ERCC3	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	2961	GTF2E2	ORPHA:33364
HP:0000549	Abnormal conjugate eye movement	29929	ALG6	ORPHA:79320
HP:0000549	Abnormal conjugate eye movement	29929	ALG6	OMIM:603147
HP:0000549	Abnormal conjugate eye movement	79087	ALG12	ORPHA:79324
HP:0000549	Abnormal conjugate eye movement	1723	DHODH	ORPHA:246
HP:0000549	Abnormal conjugate eye movement	10195	ALG3	OMIM:601110
HP:0000549	Abnormal conjugate eye movement	3897	L1CAM	OMIM:304100
HP:0000549	Abnormal conjugate eye movement	3897	L1CAM	ORPHA:2182
HP:0000549	Abnormal conjugate eye movement	3897	L1CAM	OMIM:303350
HP:0000549	Abnormal conjugate eye movement	9896	FIG4	ORPHA:208441
HP:0000549	Abnormal conjugate eye movement	3845	KRAS	OMIM:600268
HP:0000549	Abnormal conjugate eye movement	3845	KRAS	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	3845	KRAS	ORPHA:3339
HP:0000549	Abnormal conjugate eye movement	3845	KRAS	ORPHA:1340
HP:0000549	Abnormal conjugate eye movement	3845	KRAS	OMIM:609942
HP:0000549	Abnormal conjugate eye movement	8621	CDK13	OMIM:617360
HP:0000549	Abnormal conjugate eye movement	51013	EXOSC1	OMIM:619304
HP:0000549	Abnormal conjugate eye movement	6857	SYT1	OMIM:618218
HP:0000549	Abnormal conjugate eye movement	6857	SYT1	ORPHA:522077
HP:0000549	Abnormal conjugate eye movement	6792	CDKL5	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	3736	KCNA1	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	9091	PIGQ	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	2775	GNAO1	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	81603	TRIM8	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	79751	SLC25A22	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	150094	SIK1	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	23312	DMXL2	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	2917	GRM7	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	11284	PNKP	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	6326	SCN2A	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	51227	PIGP	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	6324	SCN1B	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	4761	NEUROD2	ORPHA:1934
HP:0000549	Abnormal conjugate eye movement	10466	COG5	ORPHA:263487
HP:0000549	Abnormal conjugate eye movement	30000	TNPO2	OMIM:619556
HP:0000549	Abnormal conjugate eye movement	6477	SIAH1	OMIM:619314
HP:0000549	Abnormal conjugate eye movement	54892	NCAPG2	OMIM:618460
HP:0000549	Abnormal conjugate eye movement	55628	ZNF407	OMIM:619557
HP:0000549	Abnormal conjugate eye movement	26275	HIBCH	ORPHA:88639
HP:0000549	Abnormal conjugate eye movement	26275	HIBCH	OMIM:250620
HP:0000549	Abnormal conjugate eye movement	29998	BICRA	OMIM:619325
HP:0000549	Abnormal conjugate eye movement	4081	MAB21L1	OMIM:618479
HP:0000549	Abnormal conjugate eye movement	6833	ABCC8	OMIM:240800
HP:0000549	Abnormal conjugate eye movement	5010	CLDN11	OMIM:619328
HP:0000549	Abnormal conjugate eye movement	2710	GK	OMIM:307030
HP:0000549	Abnormal conjugate eye movement	9179	AP4M1	OMIM:612936
HP:0000549	Abnormal conjugate eye movement	9179	AP4M1	ORPHA:280763
HP:0000549	Abnormal conjugate eye movement	387119	CEP85L	ORPHA:572013
HP:0000549	Abnormal conjugate eye movement	79944	L2HGDH	OMIM:236792
HP:0000549	Abnormal conjugate eye movement	1741	DLG3	OMIM:300850
HP:0000549	Abnormal conjugate eye movement	57551	TAOK1	OMIM:619575
HP:0000549	Abnormal conjugate eye movement	56915	EXOSC5	OMIM:619576
HP:0000549	Abnormal conjugate eye movement	2077	ERF	ORPHA:207
HP:0000549	Abnormal conjugate eye movement	5351	PLOD1	ORPHA:1900
HP:0000549	Abnormal conjugate eye movement	55750	AGK	OMIM:212350
HP:0000549	Abnormal conjugate eye movement	55750	AGK	ORPHA:1369
HP:0000549	Abnormal conjugate eye movement	3265	HRAS	ORPHA:3071
HP:0000549	Abnormal conjugate eye movement	3265	HRAS	OMIM:218040
HP:0000549	Abnormal conjugate eye movement	2898	GRIK2	OMIM:619580
HP:0000549	Abnormal conjugate eye movement	191	AHCY	ORPHA:88618
HP:0000549	Abnormal conjugate eye movement	9496	TBX4	ORPHA:261279
HP:0000549	Abnormal conjugate eye movement	6712	SPTBN2	OMIM:600224
HP:0000549	Abnormal conjugate eye movement	6712	SPTBN2	ORPHA:352403
HP:0000549	Abnormal conjugate eye movement	774	CACNA1B	OMIM:618497
HP:0000549	Abnormal conjugate eye movement	10524	KAT5	OMIM:619103
HP:0000549	Abnormal conjugate eye movement	372	ARCN1	OMIM:617164
HP:0000549	Abnormal conjugate eye movement	54681	P4HTM	OMIM:618493
HP:0000549	Abnormal conjugate eye movement	26040	SETBP1	OMIM:616078
HP:0000549	Abnormal conjugate eye movement	2475	MTOR	ORPHA:457485
HP:0000549	Abnormal conjugate eye movement	2475	MTOR	OMIM:616638
HP:0000549	Abnormal conjugate eye movement	5573	PRKAR1A	OMIM:101800
HP:0000549	Abnormal conjugate eye movement	80185	TTI2	ORPHA:391307
HP:0000549	Abnormal conjugate eye movement	80185	TTI2	OMIM:615541
HP:0000549	Abnormal conjugate eye movement	668	FOXL2	OMIM:110100
HP:0000549	Abnormal conjugate eye movement	668	FOXL2	ORPHA:572333
HP:0000549	Abnormal conjugate eye movement	10847	SRCAP	OMIM:619595
HP:0000549	Abnormal conjugate eye movement	10847	SRCAP	ORPHA:2044
HP:0000549	Abnormal conjugate eye movement	10847	SRCAP	OMIM:136140
HP:0000549	Abnormal conjugate eye movement	5702	PSMC3	OMIM:619354
HP:0000549	Abnormal conjugate eye movement	79005	SCNM1	OMIM:620107
HP:0000549	Abnormal conjugate eye movement	4983	OPHN1	ORPHA:137831
HP:0000549	Abnormal conjugate eye movement	4983	OPHN1	OMIM:300486
HP:0000549	Abnormal conjugate eye movement	4810	NHS	ORPHA:627
HP:0000549	Abnormal conjugate eye movement	526	ATP6V1B2	ORPHA:79500
HP:0000549	Abnormal conjugate eye movement	57465	TBC1D24	ORPHA:79500
HP:0000549	Abnormal conjugate eye movement	51317	PHF21A	ORPHA:52022
HP:0000549	Abnormal conjugate eye movement	84172	POLR1B	ORPHA:861
HP:0000549	Abnormal conjugate eye movement	9533	POLR1C	ORPHA:861
HP:0000549	Abnormal conjugate eye movement	51082	POLR1D	ORPHA:861
HP:0000549	Abnormal conjugate eye movement	374354	NHLRC2	OMIM:618278
HP:0000549	Abnormal conjugate eye movement	128240	NAXE	OMIM:617186
HP:0000549	Abnormal conjugate eye movement	5130	PCYT1A	ORPHA:85167
HP:0000549	Abnormal conjugate eye movement	6472	SHMT2	OMIM:619121
HP:0000549	Abnormal conjugate eye movement	23287	AGTPBP1	OMIM:618276
HP:0000549	Abnormal conjugate eye movement	23287	AGTPBP1	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	6299	SALL1	ORPHA:857
HP:0000549	Abnormal conjugate eye movement	51339	DACT1	ORPHA:857
HP:0000549	Abnormal conjugate eye movement	22995	CEP152	OMIM:613823
HP:0000549	Abnormal conjugate eye movement	5077	PAX3	ORPHA:894
HP:0000549	Abnormal conjugate eye movement	6904	TBCD	OMIM:617193
HP:0000549	Abnormal conjugate eye movement	55835	CENPJ	OMIM:608393
HP:0000549	Abnormal conjugate eye movement	4668	NAGA	OMIM:609241
HP:0000549	Abnormal conjugate eye movement	4668	NAGA	ORPHA:79281
HP:0000549	Abnormal conjugate eye movement	4668	NAGA	ORPHA:79279
HP:0000549	Abnormal conjugate eye movement	4157	MC1R	OMIM:203200
HP:0000549	Abnormal conjugate eye movement	3295	HSD17B4	OMIM:261515
HP:0000549	Abnormal conjugate eye movement	867	CBL	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	8216	LZTR1	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	6016	RIT1	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	6237	RRAS	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	5894	RAF1	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	22808	MRAS	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	200734	SPRED2	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	4893	NRAS	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	6654	SOS1	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	6655	SOS2	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	5781	PTPN11	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	5781	PTPN11	OMIM:151100
HP:0000549	Abnormal conjugate eye movement	5922	RASA2	ORPHA:648
HP:0000549	Abnormal conjugate eye movement	84233	TMEM126A	OMIM:612989
HP:0000549	Abnormal conjugate eye movement	11011	TLK2	OMIM:618050
HP:0000549	Abnormal conjugate eye movement	27161	AGO2	OMIM:619149
HP:0000549	Abnormal conjugate eye movement	8665	EIF3F	OMIM:618295
HP:0000549	Abnormal conjugate eye movement	3480	IGF1R	OMIM:270450
HP:0000549	Abnormal conjugate eye movement	10128	LRPPRC	OMIM:220111
HP:0000549	Abnormal conjugate eye movement	10134	BCAP31	OMIM:300475
HP:0000549	Abnormal conjugate eye movement	10134	BCAP31	ORPHA:369939
HP:0000549	Abnormal conjugate eye movement	158	ADSL	OMIM:103050
HP:0000549	Abnormal conjugate eye movement	1545	CYP1B1	ORPHA:708
HP:0000549	Abnormal conjugate eye movement	2301	FOXE3	ORPHA:708
HP:0000549	Abnormal conjugate eye movement	2296	FOXC1	ORPHA:708
HP:0000549	Abnormal conjugate eye movement	10274	STAG1	ORPHA:502434
HP:0000549	Abnormal conjugate eye movement	10992	SF3B2	OMIM:164210
HP:0000549	Abnormal conjugate eye movement	501	ALDH7A1	OMIM:266100
HP:0000549	Abnormal conjugate eye movement	374654	KIF7	OMIM:200990
HP:0000549	Abnormal conjugate eye movement	2911	GRM1	OMIM:614831
HP:0000549	Abnormal conjugate eye movement	25782	RAB3GAP2	OMIM:212720
HP:0000549	Abnormal conjugate eye movement	3899	AFF3	OMIM:619297
HP:0000549	Abnormal conjugate eye movement	1757	SARDH	ORPHA:3129
HP:0000549	Abnormal conjugate eye movement	7045	TGFBI	OMIM:608470
HP:0000549	Abnormal conjugate eye movement	7045	TGFBI	OMIM:121900
HP:0000549	Abnormal conjugate eye movement	10015	PDCD6IP	OMIM:620047
HP:0000549	Abnormal conjugate eye movement	8546	AP3B1	OMIM:608233
HP:0000549	Abnormal conjugate eye movement	4591	TRIM37	OMIM:253250
HP:0000549	Abnormal conjugate eye movement	2615	LRRC32	OMIM:619074
HP:0000549	Abnormal conjugate eye movement	1727	CYB5R3	OMIM:250800
HP:0000549	Abnormal conjugate eye movement	1857	DVL3	ORPHA:3107
HP:0000549	Abnormal conjugate eye movement	7474	WNT5A	ORPHA:3107
HP:0000549	Abnormal conjugate eye movement	1855	DVL1	ORPHA:3107
HP:0000549	Abnormal conjugate eye movement	2535	FZD2	ORPHA:3107
HP:0000549	Abnormal conjugate eye movement	6804	STX1A	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	7461	CLIP2	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	84277	DNAJC30	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	8468	FKBP6	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	5982	RFC2	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	2969	GTF2I	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	3984	LIMK1	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	9569	GTF2IRD1	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	155382	VPS37D	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	155368	METTL27	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	114049	BUD23	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	7458	EIF4H	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	84163	GTF2IRD2	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	9275	BCL7B	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	26608	TBL2	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	653361	NCF1	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	135886	TMEM270	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	51085	MLXIPL	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	51085	MLXIPL	OMIM:194050
HP:0000549	Abnormal conjugate eye movement	9031	BAZ1B	ORPHA:904
HP:0000549	Abnormal conjugate eye movement	11340	EXOSC8	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	5393	EXOSC9	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	51010	EXOSC3	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	51010	EXOSC3	OMIM:614678
HP:0000549	Abnormal conjugate eye movement	7443	VRK1	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	91137	SLC25A46	ORPHA:2254
HP:0000549	Abnormal conjugate eye movement	81031	SLC2A10	ORPHA:3342
HP:0000549	Abnormal conjugate eye movement	4976	OPA1	OMIM:165500
HP:0000549	Abnormal conjugate eye movement	4976	OPA1	OMIM:125250
HP:0000549	Abnormal conjugate eye movement	83475	DOHH	OMIM:620066
HP:0000549	Abnormal conjugate eye movement	6329	SCN4A	ORPHA:99734
HP:0000549	Abnormal conjugate eye movement	10236	HNRNPR	OMIM:620073
HP:0000549	Abnormal conjugate eye movement	78989	COLEC11	OMIM:265050
HP:0000549	Abnormal conjugate eye movement	4089	SMAD4	OMIM:139210
HP:0000549	Abnormal conjugate eye movement	284217	LAMA1	OMIM:615960
HP:0000549	Abnormal conjugate eye movement	284217	LAMA1	ORPHA:370022
HP:0000549	Abnormal conjugate eye movement	51244	CCDC174	OMIM:616816
HP:0000549	Abnormal conjugate eye movement	23065	EMC1	ORPHA:480898
HP:0000549	Abnormal conjugate eye movement	3187	HNRNPH1	OMIM:620083
HP:0000549	Abnormal conjugate eye movement	9928	KIF14	OMIM:617914
HP:0000549	Abnormal conjugate eye movement	1634	DCN	OMIM:610048
HP:0000549	Abnormal conjugate eye movement	84978	FRMD5	OMIM:620094
HP:0000549	Abnormal conjugate eye movement	5631	PRPS1	OMIM:300661
HP:0000549	Abnormal conjugate eye movement	51067	YARS2	OMIM:613561
HP:0000549	Abnormal conjugate eye movement	2702	GJA5	OMIM:612474
HP:0000549	Abnormal conjugate eye movement	2703	GJA8	OMIM:612474
HP:0000549	Abnormal conjugate eye movement	3329	HSPD1	OMIM:612233
HP:0000549	Abnormal conjugate eye movement	51053	GMNN	OMIM:616835
HP:0000549	Abnormal conjugate eye movement	27241	BBS9	OMIM:615986
HP:0000549	Abnormal conjugate eye movement	7507	XPA	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	7508	XPC	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	1643	DDB2	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	2073	ERCC5	ORPHA:910
HP:0000549	Abnormal conjugate eye movement	51621	KLF13	OMIM:612001
HP:0000549	Abnormal conjugate eye movement	2335	FN1	ORPHA:93315
HP:0000549	Abnormal conjugate eye movement	1280	COL2A1	ORPHA:93315
HP:0000549	Abnormal conjugate eye movement	29926	GMPPA	OMIM:615510
HP:0000549	Abnormal conjugate eye movement	22845	DOLK	ORPHA:91131
HP:0000549	Abnormal conjugate eye movement	291	SLC25A4	ORPHA:1369
HP:0000549	Abnormal conjugate eye movement	26007	TKFC	ORPHA:1369
HP:0000549	Abnormal conjugate eye movement	10157	AASS	ORPHA:2203
HP:0000549	Abnormal conjugate eye movement	55784	MCTP2	ORPHA:1596
HP:0000549	Abnormal conjugate eye movement	51218	GLRX5	OMIM:616859
HP:0000549	Abnormal conjugate eye movement	5053	PAH	ORPHA:2209
HP:0000549	Abnormal conjugate eye movement	26224	FBXL3	OMIM:606220
HP:0000549	Abnormal conjugate eye movement	4297	KMT2A	OMIM:605130
HP:0000549	Abnormal conjugate eye movement	11253	MAN1B1	OMIM:614202
HP:0000549	Abnormal conjugate eye movement	10352	WARS2	OMIM:617710
HP:0000549	Abnormal conjugate eye movement	7874	USP7	OMIM:616863
HP:0000549	Abnormal conjugate eye movement	7874	USP7	ORPHA:500055
HP:0000549	Abnormal conjugate eye movement	27315	PGAP2	OMIM:614207
HP:0000549	Abnormal conjugate eye movement	54974	THG1L	OMIM:618800
HP:0000549	Abnormal conjugate eye movement	5604	MAP2K1	ORPHA:1340
HP:0000549	Abnormal conjugate eye movement	26146	TRAF3IP1	OMIM:616629
HP:0000549	Abnormal conjugate eye movement	1737	DLAT	ORPHA:79244
HP:0000549	Abnormal conjugate eye movement	3209	HOXA13	ORPHA:2438
HP:0000549	Abnormal conjugate eye movement	2248	FGF3	ORPHA:90024
HP:0000549	Abnormal conjugate eye movement	23395	LARS2	OMIM:615300
HP:0000549	Abnormal conjugate eye movement	80781	COL18A1	ORPHA:1571
HP:0000549	Abnormal conjugate eye movement	5062	PAK2	ORPHA:1571
HP:0000549	Abnormal conjugate eye movement	55644	OSGEP	OMIM:617729
HP:0000549	Abnormal conjugate eye movement	3835	KIF22	ORPHA:93360
HP:0000549	Abnormal conjugate eye movement	6938	TCF12	OMIM:615314
HP:0000549	Abnormal conjugate eye movement	4659	PPP1R12A	OMIM:618820
HP:0000549	Abnormal conjugate eye movement	285175	UNC80	ORPHA:371364
HP:0000549	Abnormal conjugate eye movement	8405	SPOP	OMIM:618829
HP:0000549	Abnormal conjugate eye movement	8905	AP1S2	ORPHA:1568
HP:0000549	Abnormal conjugate eye movement	23630	KCNE5	ORPHA:86818
HP:0000549	Abnormal conjugate eye movement	2182	ACSL4	ORPHA:86818
HP:0000549	Abnormal conjugate eye movement	7204	TRIO	ORPHA:476126
HP:0000549	Abnormal conjugate eye movement	10717	AP4B1	ORPHA:280763
HP:0000549	Abnormal conjugate eye movement	11154	AP4S1	ORPHA:280763
HP:0000549	Abnormal conjugate eye movement	23431	AP4E1	ORPHA:280763
HP:0000549	Abnormal conjugate eye movement	9320	TRIP12	OMIM:617752
HP:0000549	Abnormal conjugate eye movement	523	ATP6V1A	ORPHA:357074
HP:0000549	Abnormal conjugate eye movement	738	VPS51	OMIM:618606
HP:0000549	Abnormal conjugate eye movement	5718	PSMD12	OMIM:617516
HP:0000549	Abnormal conjugate eye movement	5430	POLR2A	OMIM:618603
HP:0000549	Abnormal conjugate eye movement	23592	LEMD3	ORPHA:1306
HP:0000549	Abnormal conjugate eye movement	6913	TBX15	ORPHA:93333
HP:0000549	Abnormal conjugate eye movement	9130	FAM50A	OMIM:300261
HP:0000549	Abnormal conjugate eye movement	23102	TBC1D2B	ORPHA:397973
HP:0000549	Abnormal conjugate eye movement	23404	EXOSC2	OMIM:617763
HP:0000549	Abnormal conjugate eye movement	8803	SUCLA2	OMIM:612073
HP:0000549	Abnormal conjugate eye movement	22978	NT5C2	OMIM:613162
HP:0000549	Abnormal conjugate eye movement	9181	ARHGEF2	OMIM:617523
HP:0000549	Abnormal conjugate eye movement	10577	NPC2	OMIM:607625
HP:0000549	Abnormal conjugate eye movement	5354	PLP1	OMIM:312080
HP:0000549	Abnormal conjugate eye movement	4137	MAPT	ORPHA:240071
HP:0000549	Abnormal conjugate eye movement	4137	MAPT	ORPHA:240094
HP:0000549	Abnormal conjugate eye movement	4137	MAPT	ORPHA:240112
HP:0000549	Abnormal conjugate eye movement	4137	MAPT	ORPHA:240085
HP:0000549	Abnormal conjugate eye movement	4137	MAPT	ORPHA:240103
HP:0000549	Abnormal conjugate eye movement	8659	ALDH4A1	ORPHA:79101
HP:0000549	Abnormal conjugate eye movement	4864	NPC1	OMIM:257220
HP:0000549	Abnormal conjugate eye movement	11128	POLR3A	ORPHA:447896
HP:0000549	Abnormal conjugate eye movement	11128	POLR3A	OMIM:607694
HP:0000549	Abnormal conjugate eye movement	6687	SPG7	OMIM:607259
HP:0000549	Abnormal conjugate eye movement	5610	EIF2AK2	OMIM:619687
HP:0000549	Abnormal conjugate eye movement	8878	SQSTM1	OMIM:617145
HP:0000549	Abnormal conjugate eye movement	10528	NOP56	OMIM:614153
HP:0000549	Abnormal conjugate eye movement	8309	ACOX2	OMIM:617308
HP:0000549	Abnormal conjugate eye movement	1639	DCTN1	OMIM:168605
HP:0000549	Abnormal conjugate eye movement	55703	POLR3B	OMIM:607694
HP:0000549	Abnormal conjugate eye movement	440193	CCDC88C	ORPHA:423275
HP:0000549	Abnormal conjugate eye movement	6567	SLC16A2	OMIM:300523
HP:0000549	Abnormal conjugate eye movement	1600	DAB1	ORPHA:363710
HP:0000549	Abnormal conjugate eye movement	4041	LRP5	OMIM:133780
HP:0000549	Abnormal conjugate eye movement	50964	SOST	OMIM:269500
HP:0000549	Abnormal conjugate eye movement	2895	GRID2	OMIM:616204
HP:0000549	Abnormal conjugate eye movement	50484	RRM2B	ORPHA:329336
HP:0000549	Abnormal conjugate eye movement	246243	RNASEH1	ORPHA:329336
HP:0000549	Abnormal conjugate eye movement	79796	ALG9	OMIM:608776
HP:0000549	Abnormal conjugate eye movement	79796	ALG9	ORPHA:79328
HP:0000549	Abnormal conjugate eye movement	1303	COL12A1	ORPHA:75840
HP:0000549	Abnormal conjugate eye movement	1291	COL6A1	ORPHA:75840
HP:0000549	Abnormal conjugate eye movement	1292	COL6A2	ORPHA:75840
HP:0000549	Abnormal conjugate eye movement	1293	COL6A3	ORPHA:75840
HP:0000549	Abnormal conjugate eye movement	5575	PRKAR1B	OMIM:619680
HP:0000549	Abnormal conjugate eye movement	2581	GALC	ORPHA:206443
HP:0000549	Abnormal conjugate eye movement	388015	RTL1	ORPHA:254528
HP:0000549	Abnormal conjugate eye movement	8788	DLK1	ORPHA:254528
HP:0000549	Abnormal conjugate eye movement	55384	MEG3	ORPHA:254528
HP:0000549	Abnormal conjugate eye movement	3149	HMGB3	OMIM:300915
HP:0000549	Abnormal conjugate eye movement	64221	ROBO3	OMIM:607313
HP:0000549	Abnormal conjugate eye movement	55777	MBD5	OMIM:156200
HP:0000549	Abnormal conjugate eye movement	84992	PIGY	ORPHA:247262
HP:0000549	Abnormal conjugate eye movement	84720	PIGO	ORPHA:247262
HP:0000549	Abnormal conjugate eye movement	93210	PGAP3	ORPHA:247262
HP:0000549	Abnormal conjugate eye movement	284098	PIGW	ORPHA:247262
HP:0000549	Abnormal conjugate eye movement	55650	PIGV	ORPHA:247262
HP:0000549	Abnormal conjugate eye movement	9630	GNA14	ORPHA:1063
HP:0000549	Abnormal conjugate eye movement	64207	IRF2BPL	OMIM:618088
HP:0000549	Abnormal conjugate eye movement	29920	PYCR2	ORPHA:481152
HP:0000549	Abnormal conjugate eye movement	5422	POLA1	OMIM:301030
HP:0000549	Abnormal conjugate eye movement	10484	SEC23A	OMIM:607812
HP:0000549	Abnormal conjugate eye movement	84342	COG8	OMIM:611182
HP:0000549	Abnormal conjugate eye movement	55714	TENM3	OMIM:615145
HP:0000549	Abnormal conjugate eye movement	5144	PDE4D	ORPHA:439822
HP:0000549	Abnormal conjugate eye movement	26227	PHGDH	ORPHA:79351
HP:0000549	Abnormal conjugate eye movement	2743	GLRB	OMIM:614619
HP:0000549	Abnormal conjugate eye movement	8270	LAGE3	OMIM:301006
HP:0000549	Abnormal conjugate eye movement	8363	H4C11	OMIM:619759
HP:0000549	Abnormal conjugate eye movement	3211	HOXB1	OMIM:614744
HP:0000549	Abnormal conjugate eye movement	6507	SLC1A3	ORPHA:2131
HP:0000549	Abnormal conjugate eye movement	477	ATP1A2	ORPHA:2131
HP:0000549	Abnormal conjugate eye movement	1528	CYB5A	ORPHA:621
HP:0000549	Abnormal conjugate eye movement	2255	FGF10	OMIM:620193
HP:0000549	Abnormal conjugate eye movement	10682	EBP	OMIM:300960
HP:0000549	Abnormal conjugate eye movement	55210	ATAD3A	ORPHA:496790
HP:0000549	Abnormal conjugate eye movement	55210	ATAD3A	OMIM:617183
HP:0000549	Abnormal conjugate eye movement	84343	HPS3	OMIM:614072
HP:0000549	Abnormal conjugate eye movement	388552	BLOC1S3	OMIM:614077
HP:0000549	Abnormal conjugate eye movement	60482	SLC5A7	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	4649	MYO9A	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	1305	COL13A1	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	6576	SLC25A1	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	375790	AGRN	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	127833	SYT2	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	6572	SLC18A3	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	6616	SNAP25	ORPHA:98914
HP:0000549	Abnormal conjugate eye movement	471	ATIC	OMIM:608688
HP:0000549	Abnormal conjugate eye movement	84628	NTNG2	OMIM:618718
HP:0000549	Abnormal conjugate eye movement	5295	PIK3R1	OMIM:269880
HP:0000549	Abnormal conjugate eye movement	54802	TRIT1	OMIM:617873
HP:0000549	Abnormal conjugate eye movement	23154	NCDN	OMIM:619373
HP:0000549	Abnormal conjugate eye movement	55605	KIF21A	OMIM:135700
HP:0000549	Abnormal conjugate eye movement	1284	COL4A2	OMIM:614483
HP:0000549	Abnormal conjugate eye movement	83938	LRMDA	OMIM:615179
HP:0000549	Abnormal conjugate eye movement	11152	WDR45	OMIM:615179
HP:0000549	Abnormal conjugate eye movement	10210	TOPORS	ORPHA:2754
HP:0000549	Abnormal conjugate eye movement	26123	TCTN3	ORPHA:2754
HP:0000549	Abnormal conjugate eye movement	5147	PDE6D	ORPHA:2754
HP:0000549	Abnormal conjugate eye movement	8481	OFD1	ORPHA:2754
HP:0000549	Abnormal conjugate eye movement	9469	CHST3	OMIM:245600
HP:0000549	Abnormal conjugate eye movement	26229	B3GAT3	OMIM:245600
HP:0000549	Abnormal conjugate eye movement	129285	PPP1R21	OMIM:619383
HP:0000549	Abnormal conjugate eye movement	84148	KAT8	OMIM:618974
HP:0000549	Abnormal conjugate eye movement	4654	MYOD1	OMIM:618975
HP:0000549	Abnormal conjugate eye movement	6935	ZEB1	ORPHA:98973
HP:0000549	Abnormal conjugate eye movement	30813	VSX1	ORPHA:98973
HP:0000549	Abnormal conjugate eye movement	58495	OVOL2	ORPHA:98973
HP:0000549	Abnormal conjugate eye movement	79977	GRHL2	ORPHA:98973
HP:0000549	Abnormal conjugate eye movement	1296	COL8A2	ORPHA:98973
HP:0000549	Abnormal conjugate eye movement	6535	SLC6A8	OMIM:300352
HP:0000549	Abnormal conjugate eye movement	104	ADARB1	OMIM:618862
HP:0000549	Abnormal conjugate eye movement	79912	PYROXD1	OMIM:617258
HP:0000549	Abnormal conjugate eye movement	9227	LRAT	ORPHA:364055
HP:0000549	Abnormal conjugate eye movement	55812	SPATA7	ORPHA:364055
HP:0000549	Abnormal conjugate eye movement	6121	RPE65	ORPHA:364055
HP:0000549	Abnormal conjugate eye movement	167691	LCA5	ORPHA:364055
HP:0000549	Abnormal conjugate eye movement	6873	TAF2	ORPHA:397951
HP:0000549	Abnormal conjugate eye movement	36	ACADSB	OMIM:610006
HP:0000549	Abnormal conjugate eye movement	51651	PTRH2	ORPHA:456312
HP:0000549	Abnormal conjugate eye movement	51651	PTRH2	OMIM:616263
HP:0000549	Abnormal conjugate eye movement	3188	HNRNPH2	OMIM:300986
HP:0000549	Abnormal conjugate eye movement	2783	GNB2	OMIM:619503
HP:0000549	Abnormal conjugate eye movement	23268	DNMBP	OMIM:618415
HP:0000549	Abnormal conjugate eye movement	9419	CRIPT	OMIM:615789
HP:0000549	Abnormal conjugate eye movement	9997	SCO2	OMIM:604377
HP:0000549	Abnormal conjugate eye movement	9997	SCO2	ORPHA:521411
HP:0000549	Abnormal conjugate eye movement	1947	EFNB1	OMIM:304110
HP:0000549	Abnormal conjugate eye movement	149371	EXOC8	OMIM:619076
HP:0000549	Abnormal conjugate eye movement	94137	RP1L1	OMIM:618826
HP:0000549	Abnormal conjugate eye movement	9255	AIMP1	OMIM:260600
HP:0000549	Abnormal conjugate eye movement	90624	LYRM7	OMIM:615838
HP:0000549	Abnormal conjugate eye movement	1282	COL4A1	OMIM:175780
HP:0000549	Abnormal conjugate eye movement	6134	RPL10	ORPHA:459070
HP:0000549	Abnormal conjugate eye movement	283209	PGM2L1	OMIM:620191
HP:0000549	Abnormal conjugate eye movement	54880	BCOR	OMIM:300166
HP:0000549	Abnormal conjugate eye movement	26503	SLC17A5	OMIM:604369
HP:0000549	Abnormal conjugate eye movement	546	ATRX	OMIM:309580
HP:0000549	Abnormal conjugate eye movement	57479	PRR12	OMIM:619539
HP:0000549	Abnormal conjugate eye movement	4088	SMAD3	OMIM:613795
HP:0000549	Abnormal conjugate eye movement	7048	TGFBR2	OMIM:610168
HP:0000549	Abnormal conjugate eye movement	64802	NMNAT1	OMIM:619260
HP:0000549	Abnormal conjugate eye movement	3030	HADHA	ORPHA:5
HP:0000549	Abnormal conjugate eye movement	7046	TGFBR1	OMIM:609192
HP:0000549	Abnormal conjugate eye movement	5621	PRNP	ORPHA:282166
HP:0000549	Abnormal conjugate eye movement	5621	PRNP	OMIM:123400
HP:0000549	Abnormal conjugate eye movement	8867	SYNJ1	OMIM:615530
HP:0000549	Abnormal conjugate eye movement	2521	FUS	ORPHA:275872
HP:0000549	Abnormal conjugate eye movement	2521	FUS	ORPHA:300605
HP:0000549	Abnormal conjugate eye movement	7415	VCP	ORPHA:275872
HP:0000549	Abnormal conjugate eye movement	23435	TARDBP	ORPHA:275872
HP:0000549	Abnormal conjugate eye movement	29110	TBK1	ORPHA:275872
HP:0000549	Abnormal conjugate eye movement	400916	CHCHD10	ORPHA:275872
HP:0000549	Abnormal conjugate eye movement	203228	C9orf72	OMIM:105550
HP:0000549	Abnormal conjugate eye movement	3119	HLA-DQB1	OMIM:123400
HP:0000549	Abnormal conjugate eye movement	128989	TANGO2	ORPHA:480864
HP:0000549	Abnormal conjugate eye movement	10280	SIGMAR1	ORPHA:300605
HP:0000549	Abnormal conjugate eye movement	10558	SPTLC1	ORPHA:300605
HP:0000549	Abnormal conjugate eye movement	57679	ALS2	ORPHA:300605
HP:0000549	Abnormal conjugate eye movement	51271	UBAP1	OMIM:618418
HP:0000549	Abnormal conjugate eye movement	5660	PSAP	OMIM:610539
HP:0000549	Abnormal conjugate eye movement	1804	DPP6	ORPHA:2514
HP:0000549	Abnormal conjugate eye movement	4001	LMNB1	ORPHA:2514
HP:0000549	Abnormal conjugate eye movement	1185	CLCN6	OMIM:619173
HP:0000549	Abnormal conjugate eye movement	324	APC	ORPHA:99818
HP:0000549	Abnormal conjugate eye movement	92255	LMBRD2	OMIM:619694
HP:0000549	Abnormal conjugate eye movement	1630	DCC	ORPHA:2744
HP:0000549	Abnormal conjugate eye movement	1630	DCC	OMIM:617542
HP:0000549	Abnormal conjugate eye movement	3198	HOXA1	OMIM:601536
HP:0000549	Abnormal conjugate eye movement	57007	ACKR3	OMIM:619215
HP:0000549	Abnormal conjugate eye movement	92002	CCNQ	OMIM:300707
HP:0000549	Abnormal conjugate eye movement	9969	MED13	OMIM:618009
HP:0000549	Abnormal conjugate eye movement	57178	ZMIZ1	OMIM:618659
HP:0000549	Abnormal conjugate eye movement	3781	KCNN2	OMIM:619724
HP:0000549	Abnormal conjugate eye movement	26012	NSMF	OMIM:614838
HP:0000549	Abnormal conjugate eye movement	16	AARS1	OMIM:619691
HP:0000549	Abnormal conjugate eye movement	11212	PLPBP	OMIM:617290
HP:0000549	Abnormal conjugate eye movement	85365	ALG2	OMIM:607906
HP:0000549	Abnormal conjugate eye movement	54517	PUS7	OMIM:618342
HP:0000549	Abnormal conjugate eye movement	5119	CHMP1A	OMIM:614961
HP:0000549	Abnormal conjugate eye movement	79797	ZNF408	OMIM:616468
HP:0000549	Abnormal conjugate eye movement	2186	BPTF	OMIM:617755
HP:0000549	Abnormal conjugate eye movement	9894	TELO2	ORPHA:488642
HP:0000549	Abnormal conjugate eye movement	55325	UFSP2	OMIM:620028
HP:0000549	Abnormal conjugate eye movement	10060	ABCC9	OMIM:619719
HP:0000549	Abnormal conjugate eye movement	55610	VPS50	OMIM:619685
HP:0000549	Abnormal conjugate eye movement	84842	HPDL	OMIM:619026
HP:0000549	Abnormal conjugate eye movement	5058	PAK1	OMIM:618158
HP:0000549	Abnormal conjugate eye movement	83479	DDX59	OMIM:174300
HP:0000549	Abnormal conjugate eye movement	55367	PIDD1	OMIM:619827
HP:0000549	Abnormal conjugate eye movement	1642	DDB1	OMIM:619426
HP:0000549	Abnormal conjugate eye movement	9382	COG1	OMIM:611209
HP:0000549	Abnormal conjugate eye movement	5297	PI4KA	OMIM:619708
HP:0000549	Abnormal conjugate eye movement	55343	SLC35C1	ORPHA:99843
HP:0000549	Abnormal conjugate eye movement	51116	MRPS2	OMIM:617950
HP:0000549	Abnormal conjugate eye movement	23327	NEDD4L	OMIM:617201
HP:0000549	Abnormal conjugate eye movement	478	ATP1A3	OMIM:619606
HP:0000549	Abnormal conjugate eye movement	2890	GRIA1	OMIM:619931
HP:0000549	Abnormal conjugate eye movement	3166	HMX1	OMIM:612109
HP:0000549	Abnormal conjugate eye movement	51102	MECR	OMIM:617282
HP:0000549	Abnormal conjugate eye movement	51102	MECR	ORPHA:508093
HP:0000549	Abnormal conjugate eye movement	2512	FTL	ORPHA:157846
HP:0000549	Abnormal conjugate eye movement	91754	NEK9	OMIM:614262
HP:0000549	Abnormal conjugate eye movement	23230	VPS13A	ORPHA:2388
HP:0000549	Abnormal conjugate eye movement	3748	KCNC3	ORPHA:98768
HP:0000549	Abnormal conjugate eye movement	5428	POLG	ORPHA:70595
HP:0000549	Abnormal conjugate eye movement	56652	TWNK	ORPHA:70595
HP:0000549	Abnormal conjugate eye movement	6310	ATXN1	ORPHA:98755
HP:0000549	Abnormal conjugate eye movement	401	PHOX2A	OMIM:602078
HP:0000549	Abnormal conjugate eye movement	4617	MYF5	OMIM:618155
HP:0000549	Abnormal conjugate eye movement	6297	SALL2	OMIM:216820
HP:0000549	Abnormal conjugate eye movement	51506	UFC1	OMIM:618076
HP:0000549	Abnormal conjugate eye movement	2590	GALNT2	OMIM:618885
HP:0000549	Abnormal conjugate eye movement	224	ALDH3A2	OMIM:270200
HP:0010761	Broad columella	6197	RPS6KA3	OMIM:303600
HP:0010761	Broad columella	129285	PPP1R21	OMIM:619383
HP:0010761	Broad columella	8367	H4C5	OMIM:619950
HP:0010761	Broad columella	23404	EXOSC2	OMIM:617763
HP:0010761	Broad columella	60529	ALX4	OMIM:613451
HP:0010761	Broad columella	5286	PIK3C2A	OMIM:618440
HP:0010761	Broad columella	5286	PIK3C2A	ORPHA:557003
HP:0010761	Broad columella	51109	RDH11	ORPHA:436245
HP:0010761	Broad columella	57688	ZSWIM6	OMIM:617865
HP:0010761	Broad columella	529	ATP6V1E1	OMIM:617402
HP:0010761	Broad columella	9759	HDAC4	ORPHA:1001
HP:0010761	Broad columella	10283	CWC27	OMIM:250410
HP:0010761	Broad columella	10283	CWC27	ORPHA:166035
HP:0010761	Broad columella	150468	CKAP2L	ORPHA:3255
HP:0010761	Broad columella	2313	FLI1	ORPHA:2308
HP:0010761	Broad columella	2697	GJA1	ORPHA:2710
HP:0010762	Chordoma	7249	TSC2	OMIM:613254
HP:0010762	Chordoma	3458	IFNG	OMIM:613254
HP:0010762	Chordoma	7248	TSC1	OMIM:191100
HP:0010763	Low insertion of columella	79796	ALG9	ORPHA:79328
HP:0010763	Low insertion of columella	54084	TSPEAR	OMIM:618180
HP:0010763	Low insertion of columella	8567	MADD	OMIM:619005
HP:0010763	Low insertion of columella	23221	RHOBTB2	OMIM:618004
HP:0010763	Low insertion of columella	56006	SMG9	OMIM:619995
HP:0010763	Low insertion of columella	23483	TGDS	OMIM:616145
HP:0010764	Short eyelashes	8313	AXIN2	OMIM:608615
HP:0010764	Short eyelashes	4047	LSS	OMIM:618275
HP:0010764	Short eyelashes	80326	WNT10A	OMIM:150400
HP:0010765	Palmar hyperkeratosis	5317	PKP1	OMIM:604536
HP:0010765	Palmar hyperkeratosis	7051	TGM1	OMIM:242300
HP:0010765	Palmar hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0010765	Palmar hyperkeratosis	3858	KRT10	OMIM:607602
HP:0010765	Palmar hyperkeratosis	3858	KRT10	OMIM:609165
HP:0010765	Palmar hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0010765	Palmar hyperkeratosis	55651	NHP2	OMIM:224230
HP:0010765	Palmar hyperkeratosis	55505	NOP10	OMIM:224230
HP:0010765	Palmar hyperkeratosis	1075	CTSC	OMIM:170650
HP:0010765	Palmar hyperkeratosis	1075	CTSC	OMIM:245000
HP:0010765	Palmar hyperkeratosis	1075	CTSC	ORPHA:678
HP:0010765	Palmar hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0010765	Palmar hyperkeratosis	121391	KRT74	OMIM:194300
HP:0010765	Palmar hyperkeratosis	3248	HPGD	OMIM:259100
HP:0010765	Palmar hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0010765	Palmar hyperkeratosis	10804	GJB6	ORPHA:189
HP:0010765	Palmar hyperkeratosis	10804	GJB6	OMIM:129500
HP:0010765	Palmar hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0010765	Palmar hyperkeratosis	5728	PTEN	OMIM:158350
HP:0010765	Palmar hyperkeratosis	57511	COG6	ORPHA:363523
HP:0010765	Palmar hyperkeratosis	57511	COG6	OMIM:615328
HP:0010765	Palmar hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0010765	Palmar hyperkeratosis	10651	MTX2	OMIM:619127
HP:0010765	Palmar hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0010765	Palmar hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0010765	Palmar hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0010765	Palmar hyperkeratosis	64065	PERP	OMIM:619209
HP:0010765	Palmar hyperkeratosis	64065	PERP	OMIM:619208
HP:0010765	Palmar hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0010765	Palmar hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0010765	Palmar hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0010765	Palmar hyperkeratosis	7015	TERT	OMIM:613989
HP:0010765	Palmar hyperkeratosis	5339	PLEC	OMIM:226670
HP:0010765	Palmar hyperkeratosis	3889	KRT83	OMIM:617756
HP:0010765	Palmar hyperkeratosis	9487	PIGL	OMIM:280000
HP:0010765	Palmar hyperkeratosis	8086	AAAS	OMIM:231550
HP:0010765	Palmar hyperkeratosis	1828	DSG1	OMIM:148700
HP:0010765	Palmar hyperkeratosis	9896	FIG4	OMIM:216340
HP:0010765	Palmar hyperkeratosis	7286	TUFT1	OMIM:607655
HP:0010765	Palmar hyperkeratosis	5290	PIK3CA	OMIM:615108
HP:0010765	Palmar hyperkeratosis	207	AKT1	OMIM:615109
HP:0010765	Palmar hyperkeratosis	667	DST	OMIM:615425
HP:0010765	Palmar hyperkeratosis	9015	TAF1A	ORPHA:154
HP:0010765	Palmar hyperkeratosis	5663	PSEN1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	6389	SDHA	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7112	TMPO	ORPHA:154
HP:0010765	Palmar hyperkeratosis	9464	HAND2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	4625	MYH7	ORPHA:154
HP:0010765	Palmar hyperkeratosis	88	ACTN2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	10486	CAP2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	10060	ABCC9	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7168	TPM1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7414	VCL	ORPHA:154
HP:0010765	Palmar hyperkeratosis	70	ACTC1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	27063	ANKRD1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	8048	CSRP3	ORPHA:154
HP:0010765	Palmar hyperkeratosis	1410	CRYAB	ORPHA:154
HP:0010765	Palmar hyperkeratosis	4000	LMNA	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7139	TNNT2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	1829	DSG2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	3910	LAMA4	ORPHA:154
HP:0010765	Palmar hyperkeratosis	63976	PRDM16	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7273	TTN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	10587	TXNRD2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	9531	BAG3	ORPHA:154
HP:0010765	Palmar hyperkeratosis	5350	PLN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	91624	NEXN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	79717	PPCS	ORPHA:154
HP:0010765	Palmar hyperkeratosis	5664	PSEN2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	4624	MYH6	ORPHA:154
HP:0010765	Palmar hyperkeratosis	9529	BAG5	ORPHA:154
HP:0010765	Palmar hyperkeratosis	4607	MYBPC3	ORPHA:154
HP:0010765	Palmar hyperkeratosis	282996	RBM20	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7137	TNNI3	ORPHA:154
HP:0010765	Palmar hyperkeratosis	11155	LDB3	ORPHA:154
HP:0010765	Palmar hyperkeratosis	2274	FHL2	ORPHA:154
HP:0010765	Palmar hyperkeratosis	6901	TAFAZZIN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	22845	DOLK	ORPHA:154
HP:0010765	Palmar hyperkeratosis	5894	RAF1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	1756	DMD	ORPHA:154
HP:0010765	Palmar hyperkeratosis	57798	GATAD1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	7134	TNNC1	ORPHA:154
HP:0010765	Palmar hyperkeratosis	84665	MYPN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	1674	DES	ORPHA:154
HP:0010765	Palmar hyperkeratosis	6444	SGCD	ORPHA:154
HP:0010765	Palmar hyperkeratosis	6331	SCN5A	ORPHA:154
HP:0010765	Palmar hyperkeratosis	2218	FKTN	ORPHA:154
HP:0010765	Palmar hyperkeratosis	8557	TCAP	ORPHA:154
HP:0010765	Palmar hyperkeratosis	79092	CARD14	OMIM:173200
HP:0010765	Palmar hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0010765	Palmar hyperkeratosis	79650	USB1	OMIM:604173
HP:0010765	Palmar hyperkeratosis	79650	USB1	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0010765	Palmar hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0010765	Palmar hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0010765	Palmar hyperkeratosis	3728	JUP	OMIM:601214
HP:0010765	Palmar hyperkeratosis	3728	JUP	ORPHA:34217
HP:0010765	Palmar hyperkeratosis	3728	JUP	OMIM:611528
HP:0010765	Palmar hyperkeratosis	162	AP1B1	OMIM:242150
HP:0010765	Palmar hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0010765	Palmar hyperkeratosis	1824	DSC2	OMIM:610476
HP:0010765	Palmar hyperkeratosis	8626	TP63	OMIM:106260
HP:0010765	Palmar hyperkeratosis	8626	TP63	OMIM:129400
HP:0010765	Palmar hyperkeratosis	3849	KRT2	ORPHA:455
HP:0010765	Palmar hyperkeratosis	284654	RSPO1	ORPHA:85112
HP:0010765	Palmar hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0010765	Palmar hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0010765	Palmar hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0010765	Palmar hyperkeratosis	673	BRAF	ORPHA:1340
HP:0010765	Palmar hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0010765	Palmar hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0010765	Palmar hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0010765	Palmar hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0010765	Palmar hyperkeratosis	3914	LAMB3	ORPHA:79402
HP:0010765	Palmar hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0010765	Palmar hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	6898	TAT	ORPHA:28378
HP:0010765	Palmar hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0010765	Palmar hyperkeratosis	6390	SDHB	ORPHA:201
HP:0010765	Palmar hyperkeratosis	6392	SDHD	ORPHA:201
HP:0010765	Palmar hyperkeratosis	6391	SDHC	ORPHA:201
HP:0010765	Palmar hyperkeratosis	205717	USF3	ORPHA:201
HP:0010765	Palmar hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0010765	Palmar hyperkeratosis	1475	CSTA	OMIM:607936
HP:0010765	Palmar hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0010765	Palmar hyperkeratosis	285848	PNPLA1	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	23328	SASH1	OMIM:618373
HP:0010765	Palmar hyperkeratosis	1474	CST6	OMIM:618535
HP:0010765	Palmar hyperkeratosis	412	STS	OMIM:308100
HP:0010765	Palmar hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0010765	Palmar hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0010765	Palmar hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0010765	Palmar hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0010765	Palmar hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0010765	Palmar hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0010765	Palmar hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0010765	Palmar hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0010765	Palmar hyperkeratosis	5184	PEPD	ORPHA:742
HP:0010765	Palmar hyperkeratosis	25959	KANK2	OMIM:616099
HP:0010765	Palmar hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0010765	Palmar hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0010765	Palmar hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0010765	Palmar hyperkeratosis	940	CD28	ORPHA:3162
HP:0010765	Palmar hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0010765	Palmar hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0010765	Palmar hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0010765	Palmar hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0010765	Palmar hyperkeratosis	79651	RHBDF2	ORPHA:2198
HP:0010765	Palmar hyperkeratosis	23592	LEMD3	ORPHA:1306
HP:0010765	Palmar hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0010765	Palmar hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0010765	Palmar hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	7012	TERC	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	5073	PARN	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0010765	Palmar hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0010765	Palmar hyperkeratosis	162514	TRPV3	OMIM:616400
HP:0010765	Palmar hyperkeratosis	1832	DSP	ORPHA:65282
HP:0010765	Palmar hyperkeratosis	2697	GJA1	ORPHA:317
HP:0010765	Palmar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0010765	Palmar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0010765	Palmar hyperkeratosis	2531	KDSR	ORPHA:317
HP:0010765	Palmar hyperkeratosis	127534	GJB4	ORPHA:317
HP:0010765	Palmar hyperkeratosis	362	AQP5	OMIM:600231
HP:0010765	Palmar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0010765	Palmar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0010765	Palmar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0010765	Palmar hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0010765	Palmar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0010765	Palmar hyperkeratosis	2706	GJB2	OMIM:124500
HP:0010765	Palmar hyperkeratosis	2706	GJB2	ORPHA:494
HP:0010765	Palmar hyperkeratosis	51371	POMP	OMIM:601952
HP:0010765	Palmar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0010765	Palmar hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0010765	Palmar hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0010765	Palmar hyperkeratosis	831	CAST	OMIM:616295
HP:0010765	Palmar hyperkeratosis	79719	AAGAB	OMIM:148600
HP:0010765	Palmar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0010765	Palmar hyperkeratosis	57152	SLURP1	OMIM:248300
HP:0010765	Palmar hyperkeratosis	56916	SMARCAD1	OMIM:136000
HP:0010765	Palmar hyperkeratosis	55906	ZC4H2	OMIM:314580
HP:0010765	Palmar hyperkeratosis	80326	WNT10A	OMIM:150400
HP:0010765	Palmar hyperkeratosis	81607	NECTIN4	OMIM:613573
HP:0010765	Palmar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0010765	Palmar hyperkeratosis	3868	KRT16	ORPHA:2309
HP:0010765	Palmar hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0010765	Palmar hyperkeratosis	3857	KRT9	OMIM:144200
HP:0010765	Palmar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0010765	Palmar hyperkeratosis	3852	KRT5	ORPHA:79397
HP:0010765	Palmar hyperkeratosis	3852	KRT5	ORPHA:79399
HP:0010765	Palmar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0010765	Palmar hyperkeratosis	3861	KRT14	ORPHA:79397
HP:0010765	Palmar hyperkeratosis	3861	KRT14	ORPHA:79399
HP:0010765	Palmar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0010765	Palmar hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0010765	Palmar hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0010765	Palmar hyperkeratosis	3872	KRT17	ORPHA:2309
HP:0010765	Palmar hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0010766	Ectopic calcification	6557	SLC12A1	OMIM:601678
HP:0010766	Ectopic calcification	79577	CDC73	ORPHA:143
HP:0010766	Ectopic calcification	79577	CDC73	ORPHA:99880
HP:0010766	Ectopic calcification	79577	CDC73	ORPHA:99879
HP:0010766	Ectopic calcification	4854	NOTCH3	ORPHA:2591
HP:0010766	Ectopic calcification	1175	AP2S1	OMIM:600740
HP:0010766	Ectopic calcification	486	FXYD2	OMIM:154020
HP:0010766	Ectopic calcification	3758	KCNJ1	OMIM:241200
HP:0010766	Ectopic calcification	4210	MEFV	ORPHA:329967
HP:0010766	Ectopic calcification	7132	TNFRSF1A	ORPHA:329967
HP:0010766	Ectopic calcification	249	ALPL	OMIM:146300
HP:0010766	Ectopic calcification	4221	MEN1	ORPHA:99879
HP:0010766	Ectopic calcification	9247	GCM2	ORPHA:99879
HP:0010766	Ectopic calcification	540	ATP7B	OMIM:277900
HP:0010766	Ectopic calcification	3373	HYAL1	OMIM:601492
HP:0010766	Ectopic calcification	4558	MT-TF	ORPHA:550
HP:0010766	Ectopic calcification	4572	MT-TQ	ORPHA:550
HP:0010766	Ectopic calcification	4512	MT-CO1	ORPHA:550
HP:0010766	Ectopic calcification	4513	MT-CO2	ORPHA:550
HP:0010766	Ectopic calcification	4514	MT-CO3	ORPHA:550
HP:0010766	Ectopic calcification	4578	MT-TW	ORPHA:550
HP:0010766	Ectopic calcification	4540	MT-ND5	ORPHA:550
HP:0010766	Ectopic calcification	4541	MT-ND6	ORPHA:550
HP:0010766	Ectopic calcification	4535	MT-ND1	ORPHA:550
HP:0010766	Ectopic calcification	4538	MT-ND4	ORPHA:550
HP:0010766	Ectopic calcification	4567	MT-TL1	ORPHA:550
HP:0010766	Ectopic calcification	4574	MT-TS1	ORPHA:550
HP:0010766	Ectopic calcification	4575	MT-TS2	ORPHA:550
HP:0010766	Ectopic calcification	4564	MT-TH	ORPHA:550
HP:0010766	Ectopic calcification	113612	CYP2U1	OMIM:615030
HP:0010766	Ectopic calcification	9636	ISG15	OMIM:616126
HP:0010766	Ectopic calcification	2072	ERCC4	ORPHA:90321
HP:0010766	Ectopic calcification	2767	GNA11	OMIM:615361
HP:0010766	Ectopic calcification	2625	GATA3	OMIM:146255
HP:0010766	Ectopic calcification	10059	DNM1L	ORPHA:98673
HP:0010766	Ectopic calcification	4976	OPA1	ORPHA:98673
HP:0010766	Ectopic calcification	90	ACVR1	OMIM:135100
HP:0010766	Ectopic calcification	91137	SLC25A46	OMIM:616505
HP:0010766	Ectopic calcification	63901	FAM111A	OMIM:127000
HP:0010766	Ectopic calcification	63901	FAM111A	ORPHA:93325
HP:0010766	Ectopic calcification	116442	RAB39B	OMIM:311510
HP:0010766	Ectopic calcification	56984	PSMG2	OMIM:619183
HP:0010766	Ectopic calcification	846	CASR	OMIM:601198
HP:0010766	Ectopic calcification	23404	EXOSC2	OMIM:617763
HP:0010766	Ectopic calcification	2071	ERCC3	OMIM:610651
HP:0010766	Ectopic calcification	5696	PSMB8	OMIM:256040
HP:0010766	Ectopic calcification	1497	CTNS	OMIM:219800
HP:0010766	Ectopic calcification	26277	TINF2	OMIM:268130
HP:0010766	Ectopic calcification	26277	TINF2	OMIM:613990
HP:0010766	Ectopic calcification	26277	TINF2	ORPHA:3322
HP:0010766	Ectopic calcification	26277	TINF2	ORPHA:1775
HP:0010766	Ectopic calcification	6309	SC5D	ORPHA:46059
HP:0010766	Ectopic calcification	3265	HRAS	ORPHA:2612
HP:0010766	Ectopic calcification	3845	KRAS	ORPHA:2612
HP:0010766	Ectopic calcification	3845	KRAS	ORPHA:2396
HP:0010766	Ectopic calcification	4893	NRAS	ORPHA:2612
HP:0010766	Ectopic calcification	8496	PPFIBP1	OMIM:620024
HP:0010766	Ectopic calcification	113235	SLC46A1	ORPHA:90045
HP:0010766	Ectopic calcification	1436	CSF1R	OMIM:618476
HP:0010766	Ectopic calcification	5649	RELN	ORPHA:89844
HP:0010766	Ectopic calcification	10300	KATNB1	ORPHA:89844
HP:0010766	Ectopic calcification	54820	NDE1	ORPHA:89844
HP:0010766	Ectopic calcification	51741	WWOX	OMIM:616211
HP:0010766	Ectopic calcification	5155	PDGFB	OMIM:615483
HP:0010766	Ectopic calcification	5155	PDGFB	ORPHA:1980
HP:0010766	Ectopic calcification	65082	VPS33A	OMIM:617303
HP:0010766	Ectopic calcification	65082	VPS33A	ORPHA:505248
HP:0010766	Ectopic calcification	5053	PAH	OMIM:261600
HP:0010766	Ectopic calcification	5053	PAH	ORPHA:79254
HP:0010766	Ectopic calcification	55651	NHP2	OMIM:613987
HP:0010766	Ectopic calcification	55651	NHP2	ORPHA:1775
HP:0010766	Ectopic calcification	389827	MYMK	ORPHA:1358
HP:0010766	Ectopic calcification	101929726	MYMX	ORPHA:1358
HP:0010766	Ectopic calcification	56975	FAM20C	OMIM:259775
HP:0010766	Ectopic calcification	79709	COLGALT1	OMIM:618360
HP:0010766	Ectopic calcification	8671	SLC4A4	OMIM:604278
HP:0010766	Ectopic calcification	54	ACP5	OMIM:607944
HP:0010766	Ectopic calcification	54	ACP5	ORPHA:1855
HP:0010766	Ectopic calcification	889	KRIT1	OMIM:116860
HP:0010766	Ectopic calcification	727676	SNORD118	OMIM:614561
HP:0010766	Ectopic calcification	727676	SNORD118	ORPHA:542310
HP:0010766	Ectopic calcification	3394	IRF8	OMIM:226990
HP:0010766	Ectopic calcification	11274	USP18	OMIM:617397
HP:0010766	Ectopic calcification	2068	ERCC2	ORPHA:1466
HP:0010766	Ectopic calcification	2067	ERCC1	ORPHA:1466
HP:0010766	Ectopic calcification	2073	ERCC5	ORPHA:1466
HP:0010766	Ectopic calcification	6773	STAT2	OMIM:618886
HP:0010766	Ectopic calcification	9213	XPR1	ORPHA:1980
HP:0010766	Ectopic calcification	5159	PDGFRB	ORPHA:1980
HP:0010766	Ectopic calcification	57462	MYORG	ORPHA:1980
HP:0010766	Ectopic calcification	6575	SLC20A2	ORPHA:1980
HP:0010766	Ectopic calcification	58494	JAM2	ORPHA:1980
HP:0010766	Ectopic calcification	2260	FGFR1	ORPHA:2396
HP:0010766	Ectopic calcification	3117	HLA-DQA1	OMIM:212750
HP:0010766	Ectopic calcification	3119	HLA-DQB1	OMIM:212750
HP:0010766	Ectopic calcification	100506658	OCLN	ORPHA:1229
HP:0010766	Ectopic calcification	100506658	OCLN	OMIM:251290
HP:0010766	Ectopic calcification	2697	GJA1	ORPHA:2710
HP:0010766	Ectopic calcification	23258	DENND5A	OMIM:617281
HP:0010766	Ectopic calcification	1280	COL2A1	ORPHA:85198
HP:0010766	Ectopic calcification	8635	RNASET2	OMIM:612951
HP:0010766	Ectopic calcification	139285	AMER1	ORPHA:2780
HP:0010766	Ectopic calcification	4644	MYO5A	ORPHA:79476
HP:0010766	Ectopic calcification	760	CA2	ORPHA:2785
HP:0010766	Ectopic calcification	760	CA2	OMIM:259730
HP:0010766	Ectopic calcification	1499	CTNNB1	ORPHA:54595
HP:0010766	Ectopic calcification	673	BRAF	ORPHA:54595
HP:0010766	Ectopic calcification	1075	CTSC	ORPHA:678
HP:0010766	Ectopic calcification	4953	ODC1	OMIM:619075
HP:0010766	Ectopic calcification	538	ATP7A	ORPHA:198
HP:0010766	Ectopic calcification	8905	AP1S2	ORPHA:85335
HP:0010766	Ectopic calcification	8905	AP1S2	OMIM:304340
HP:0010766	Ectopic calcification	7249	TSC2	OMIM:613254
HP:0010766	Ectopic calcification	3458	IFNG	OMIM:613254
HP:0010766	Ectopic calcification	5189	PEX1	ORPHA:3220
HP:0010766	Ectopic calcification	5190	PEX6	ORPHA:3220
HP:0010766	Ectopic calcification	7305	TYROBP	ORPHA:2770
HP:0010766	Ectopic calcification	54209	TREM2	ORPHA:2770
HP:0010766	Ectopic calcification	10056	FARSB	OMIM:613658
HP:0010766	Ectopic calcification	1836	SLC26A2	ORPHA:628
HP:0010766	Ectopic calcification	2776	GNAQ	ORPHA:624
HP:0010766	Ectopic calcification	2776	GNAQ	ORPHA:3205
HP:0010766	Ectopic calcification	26137	ZBTB20	OMIM:259050
HP:0010766	Ectopic calcification	57169	ZNFX1	OMIM:619644
HP:0010766	Ectopic calcification	1605	DAG1	OMIM:616538
HP:0010766	Ectopic calcification	7248	TSC1	OMIM:191100
HP:0010766	Ectopic calcification	6598	SMARCB1	ORPHA:99966
HP:0010766	Ectopic calcification	326	AIRE	ORPHA:3453
HP:0010766	Ectopic calcification	1893	ECM1	ORPHA:530
HP:0010766	Ectopic calcification	5727	PTCH1	ORPHA:377
HP:0010766	Ectopic calcification	8643	PTCH2	ORPHA:377
HP:0010766	Ectopic calcification	51684	SUFU	ORPHA:377
HP:0010766	Ectopic calcification	9365	KL	OMIM:617994
HP:0010766	Ectopic calcification	351	APP	ORPHA:100006
HP:0010766	Ectopic calcification	5741	PTH	OMIM:146200
HP:0010766	Ectopic calcification	10312	TCIRG1	ORPHA:1782
HP:0010766	Ectopic calcification	55315	SLC29A3	ORPHA:1782
HP:0010766	Ectopic calcification	8792	TNFRSF11A	ORPHA:1782
HP:0010766	Ectopic calcification	51750	RTEL1	ORPHA:3322
HP:0010766	Ectopic calcification	51750	RTEL1	ORPHA:1775
HP:0010766	Ectopic calcification	65057	ACD	ORPHA:3322
HP:0010766	Ectopic calcification	5073	PARN	ORPHA:3322
HP:0010766	Ectopic calcification	5073	PARN	ORPHA:1775
HP:0010766	Ectopic calcification	7015	TERT	ORPHA:3322
HP:0010766	Ectopic calcification	7015	TERT	ORPHA:1775
HP:0010766	Ectopic calcification	1736	DKC1	ORPHA:3322
HP:0010766	Ectopic calcification	1736	DKC1	ORPHA:1775
HP:0010766	Ectopic calcification	2778	GNAS	ORPHA:79443
HP:0010766	Ectopic calcification	2778	GNAS	ORPHA:79444
HP:0010766	Ectopic calcification	1376	CPT2	ORPHA:228308
HP:0010766	Ectopic calcification	3735	KARS1	OMIM:619147
HP:0010766	Ectopic calcification	5860	QDPR	OMIM:261630
HP:0010766	Ectopic calcification	56160	NSMCE3	OMIM:617241
HP:0010766	Ectopic calcification	80169	CTC1	OMIM:612199
HP:0010766	Ectopic calcification	80169	CTC1	ORPHA:1775
HP:0010766	Ectopic calcification	79650	USB1	ORPHA:1775
HP:0010766	Ectopic calcification	55135	WRAP53	ORPHA:1775
HP:0010766	Ectopic calcification	4869	NPM1	ORPHA:1775
HP:0010766	Ectopic calcification	7012	TERC	ORPHA:1775
HP:0010766	Ectopic calcification	55505	NOP10	ORPHA:1775
HP:0010766	Ectopic calcification	7298	TYMS	ORPHA:1775
HP:0010766	Ectopic calcification	1188	CLCNKB	ORPHA:358
HP:0010766	Ectopic calcification	6559	SLC12A3	ORPHA:358
HP:0010766	Ectopic calcification	8803	SUCLA2	ORPHA:1933
HP:0010766	Ectopic calcification	4921	DDR2	OMIM:271665
HP:0010766	Ectopic calcification	4256	MGP	OMIM:245150
HP:0010766	Ectopic calcification	3295	HSD17B4	OMIM:261515
HP:0010766	Ectopic calcification	2317	FLNB	ORPHA:56305
HP:0010766	Ectopic calcification	23592	LEMD3	ORPHA:166119
HP:0010766	Ectopic calcification	23586	RIGI	OMIM:616298
HP:0010766	Ectopic calcification	3081	HGD	ORPHA:56
HP:0010766	Ectopic calcification	3081	HGD	OMIM:203500
HP:0010766	Ectopic calcification	4000	LMNA	ORPHA:363618
HP:0010766	Ectopic calcification	4000	LMNA	ORPHA:740
HP:0010766	Ectopic calcification	10269	ZMPSTE24	ORPHA:740
HP:0010766	Ectopic calcification	10651	MTX2	OMIM:619127
HP:0010766	Ectopic calcification	6628	SNRPB	OMIM:117650
HP:0010766	Ectopic calcification	1161	ERCC8	ORPHA:90324
HP:0010766	Ectopic calcification	2074	ERCC6	ORPHA:90324
HP:0010766	Ectopic calcification	2591	GALNT3	OMIM:211900
HP:0010766	Ectopic calcification	4851	NOTCH1	ORPHA:402075
HP:0010766	Ectopic calcification	1482	NKX2-5	ORPHA:402075
HP:0010766	Ectopic calcification	140628	GATA5	ORPHA:402075
HP:0010766	Ectopic calcification	3949	LDLR	ORPHA:391665
HP:0010766	Ectopic calcification	255738	PCSK9	ORPHA:391665
HP:0010766	Ectopic calcification	26119	LDLRAP1	ORPHA:391665
HP:0010766	Ectopic calcification	338	APOB	ORPHA:391665
HP:0010766	Ectopic calcification	64240	ABCG5	ORPHA:391665
HP:0010766	Ectopic calcification	64241	ABCG8	ORPHA:391665
HP:0010766	Ectopic calcification	2629	GBA1	OMIM:231005
HP:0010766	Ectopic calcification	2629	GBA1	ORPHA:2072
HP:0010766	Ectopic calcification	4091	SMAD6	OMIM:614823
HP:0010766	Ectopic calcification	10568	SLC34A2	ORPHA:60025
HP:0010766	Ectopic calcification	10535	RNASEH2A	ORPHA:51
HP:0010766	Ectopic calcification	84153	RNASEH2C	ORPHA:51
HP:0010766	Ectopic calcification	25939	SAMHD1	ORPHA:51
HP:0010766	Ectopic calcification	79621	RNASEH2B	ORPHA:51
HP:0010766	Ectopic calcification	103	ADAR	ORPHA:51
HP:0010766	Ectopic calcification	11277	TREX1	ORPHA:51
HP:0010766	Ectopic calcification	100147744	RNU7-1	ORPHA:51
HP:0010766	Ectopic calcification	134353	LSM11	ORPHA:51
HP:0010766	Ectopic calcification	64135	IFIH1	ORPHA:51
HP:0010766	Ectopic calcification	5167	ENPP1	ORPHA:51608
HP:0010766	Ectopic calcification	368	ABCC6	ORPHA:51608
HP:0010766	Ectopic calcification	6772	STAT1	ORPHA:391487
HP:0010766	Ectopic calcification	10043	TOM1	ORPHA:391487
HP:0010766	Ectopic calcification	56172	ANKH	OMIM:118600
HP:0010766	Ectopic calcification	2200	FBN1	OMIM:154700
HP:0010766	Ectopic calcification	11330	CTRC	ORPHA:103918
HP:0010766	Ectopic calcification	11330	CTRC	ORPHA:676
HP:0010766	Ectopic calcification	11330	CTRC	OMIM:167800
HP:0010766	Ectopic calcification	6690	SPINK1	ORPHA:103918
HP:0010766	Ectopic calcification	6690	SPINK1	ORPHA:676
HP:0010766	Ectopic calcification	6690	SPINK1	OMIM:608189
HP:0010766	Ectopic calcification	6690	SPINK1	OMIM:167800
HP:0010766	Ectopic calcification	5644	PRSS1	ORPHA:676
HP:0010766	Ectopic calcification	5644	PRSS1	OMIM:167800
HP:0010766	Ectopic calcification	5645	PRSS2	ORPHA:676
HP:0010766	Ectopic calcification	5645	PRSS2	OMIM:167800
HP:0010766	Ectopic calcification	1080	CFTR	ORPHA:676
HP:0010766	Ectopic calcification	1080	CFTR	OMIM:167800
HP:0010766	Ectopic calcification	1357	CPA1	ORPHA:676
HP:0010766	Ectopic calcification	57688	ZSWIM6	OMIM:603671
HP:0010766	Ectopic calcification	1297	COL9A1	OMIM:614135
HP:0010766	Ectopic calcification	3930	LBR	OMIM:215140
HP:0010766	Ectopic calcification	3930	LBR	ORPHA:1426
HP:0010766	Ectopic calcification	6513	SLC2A1	OMIM:608885
HP:0010766	Ectopic calcification	6513	SLC2A1	ORPHA:168577
HP:0010766	Ectopic calcification	7486	WRN	OMIM:277700
HP:0010766	Ectopic calcification	7486	WRN	ORPHA:902
HP:0010766	Ectopic calcification	8074	FGF23	OMIM:617993
HP:0010766	Ectopic calcification	5702	PSMC3	OMIM:619354
HP:0010766	Ectopic calcification	4041	LRP5	OMIM:259770
HP:0010766	Ectopic calcification	5925	RB1	OMIM:180200
HP:0010766	Ectopic calcification	10682	EBP	OMIM:302960
HP:0010766	Ectopic calcification	5745	PTH1R	OMIM:215045
HP:0010766	Ectopic calcification	8200	GDF5	ORPHA:93384
HP:0010766	Ectopic calcification	658	BMPR1B	ORPHA:93384
HP:0010766	Ectopic calcification	415	ARSL	ORPHA:79345
HP:0010766	Ectopic calcification	3988	LIPA	OMIM:278000
HP:0010766	Ectopic calcification	3988	LIPA	ORPHA:75233
HP:0010766	Ectopic calcification	3988	LIPA	ORPHA:75234
HP:0010766	Ectopic calcification	1583	CYP11A1	ORPHA:289548
HP:0010766	Ectopic calcification	5573	PRKAR1A	ORPHA:950
HP:0010766	Ectopic calcification	5573	PRKAR1A	OMIM:101800
HP:0010766	Ectopic calcification	5144	PDE4D	ORPHA:950
HP:0010766	Ectopic calcification	57020	VPS35L	OMIM:619135
HP:0010766	Ectopic calcification	2677	GGCX	OMIM:277450
HP:0010766	Ectopic calcification	50814	NSDHL	OMIM:308050
HP:0010766	Ectopic calcification	8504	PEX3	OMIM:614882
HP:0010766	Ectopic calcification	8504	PEX3	ORPHA:912
HP:0010766	Ectopic calcification	5828	PEX2	OMIM:614866
HP:0010766	Ectopic calcification	5828	PEX2	ORPHA:912
HP:0010766	Ectopic calcification	7068	THRB	OMIM:274300
HP:0010766	Ectopic calcification	4758	NEU1	OMIM:256550
HP:0010766	Ectopic calcification	5191	PEX7	OMIM:215100
HP:0010766	Ectopic calcification	2990	GUSB	ORPHA:584
HP:0010766	Ectopic calcification	1717	DHCR7	OMIM:270400
HP:0010766	Ectopic calcification	8540	AGPS	OMIM:600121
HP:0010766	Ectopic calcification	8443	GNPAT	OMIM:222765
HP:0010766	Ectopic calcification	5192	PEX10	OMIM:614870
HP:0010766	Ectopic calcification	5192	PEX10	ORPHA:912
HP:0010766	Ectopic calcification	55670	PEX26	OMIM:614872
HP:0010766	Ectopic calcification	55670	PEX26	ORPHA:912
HP:0010766	Ectopic calcification	9409	PEX16	OMIM:614876
HP:0010766	Ectopic calcification	9409	PEX16	ORPHA:912
HP:0010766	Ectopic calcification	5193	PEX12	OMIM:614859
HP:0010766	Ectopic calcification	5193	PEX12	ORPHA:912
HP:0010766	Ectopic calcification	5824	PEX19	ORPHA:912
HP:0010766	Ectopic calcification	8799	PEX11B	ORPHA:912
HP:0010766	Ectopic calcification	5830	PEX5	ORPHA:912
HP:0010766	Ectopic calcification	5194	PEX13	ORPHA:912
HP:0010766	Ectopic calcification	5195	PEX14	ORPHA:912
HP:0010766	Ectopic calcification	388015	RTL1	ORPHA:96334
HP:0010766	Ectopic calcification	8788	DLK1	ORPHA:96334
HP:0010766	Ectopic calcification	55384	MEG3	ORPHA:96334
HP:0010766	Ectopic calcification	5297	PI4KA	ORPHA:436252
HP:0010766	Ectopic calcification	57217	TTC7A	ORPHA:436252
HP:0010766	Ectopic calcification	4693	NDP	ORPHA:91495
HP:0010766	Ectopic calcification	220202	ATOH7	ORPHA:91495
HP:0010766	Ectopic calcification	8322	FZD4	ORPHA:91495
HP:0010766	Ectopic calcification	8675	STX16	ORPHA:94089
HP:0010766	Ectopic calcification	567	B2M	ORPHA:314652
HP:0010766	Ectopic calcification	8838	CCN6	ORPHA:1159
HP:0010766	Ectopic calcification	189	AGXT	OMIM:259900
HP:0010766	Ectopic calcification	4907	NT5E	OMIM:211800
HP:0010766	Ectopic calcification	1301	COL11A1	OMIM:154780
HP:0010766	Ectopic calcification	4982	TNFRSF11B	ORPHA:1416
HP:0010767	Sacrococcygeal pilonidal abnormality	2137	EXTL3	ORPHA:508533
HP:0010767	Sacrococcygeal pilonidal abnormality	10682	EBP	ORPHA:401973
HP:0010767	Sacrococcygeal pilonidal abnormality	10682	EBP	OMIM:300960
HP:0010767	Sacrococcygeal pilonidal abnormality	8367	H4C5	OMIM:619950
HP:0010767	Sacrococcygeal pilonidal abnormality	54892	NCAPG2	OMIM:618460
HP:0010767	Sacrococcygeal pilonidal abnormality	1859	DYRK1A	ORPHA:268261
HP:0010767	Sacrococcygeal pilonidal abnormality	5648	MASP1	OMIM:257920
HP:0010767	Sacrococcygeal pilonidal abnormality	145173	B3GLCT	ORPHA:709
HP:0010767	Sacrococcygeal pilonidal abnormality	6650	CAPN15	OMIM:619318
HP:0010767	Sacrococcygeal pilonidal abnormality	85358	SHANK3	OMIM:606232
HP:0010767	Sacrococcygeal pilonidal abnormality	85358	SHANK3	ORPHA:48652
HP:0010767	Sacrococcygeal pilonidal abnormality	57216	VANGL2	OMIM:182940
HP:0010767	Sacrococcygeal pilonidal abnormality	6347	CCL2	OMIM:182940
HP:0010767	Sacrococcygeal pilonidal abnormality	81839	VANGL1	OMIM:182940
HP:0010767	Sacrococcygeal pilonidal abnormality	6862	TBXT	OMIM:182940
HP:0010767	Sacrococcygeal pilonidal abnormality	80199	FUZ	OMIM:182940
HP:0010767	Sacrococcygeal pilonidal abnormality	79783	SUGCT	ORPHA:35706
HP:0010767	Sacrococcygeal pilonidal abnormality	91179	SCARF2	OMIM:600920
HP:0010767	Sacrococcygeal pilonidal abnormality	55209	SETD5	OMIM:615761
HP:0010767	Sacrococcygeal pilonidal abnormality	1855	DVL1	OMIM:616331
HP:0010767	Sacrococcygeal pilonidal abnormality	1855	DVL1	ORPHA:3107
HP:0010767	Sacrococcygeal pilonidal abnormality	1855	DVL1	OMIM:180700
HP:0010767	Sacrococcygeal pilonidal abnormality	4953	ODC1	ORPHA:544488
HP:0010767	Sacrococcygeal pilonidal abnormality	4297	KMT2A	OMIM:605130
HP:0010767	Sacrococcygeal pilonidal abnormality	4297	KMT2A	ORPHA:319182
HP:0010767	Sacrococcygeal pilonidal abnormality	2188	FANCF	OMIM:603467
HP:0010767	Sacrococcygeal pilonidal abnormality	1725	DHPS	OMIM:618480
HP:0010767	Sacrococcygeal pilonidal abnormality	6023	RMRP	ORPHA:175
HP:0010767	Sacrococcygeal pilonidal abnormality	56992	KIF15	ORPHA:261323
HP:0010767	Sacrococcygeal pilonidal abnormality	3190	HNRNPK	OMIM:616580
HP:0010767	Sacrococcygeal pilonidal abnormality	57492	ARID1B	OMIM:135900
HP:0010767	Sacrococcygeal pilonidal abnormality	10584	COLEC10	OMIM:248340
HP:0010767	Sacrococcygeal pilonidal abnormality	818	CAMK2G	OMIM:618522
HP:0010767	Sacrococcygeal pilonidal abnormality	284058	KANSL1	ORPHA:363958
HP:0010767	Sacrococcygeal pilonidal abnormality	284058	KANSL1	ORPHA:363965
HP:0010767	Sacrococcygeal pilonidal abnormality	284058	KANSL1	OMIM:610443
HP:0010767	Sacrococcygeal pilonidal abnormality	3899	AFF3	OMIM:619297
HP:0010767	Sacrococcygeal pilonidal abnormality	54496	PRMT7	OMIM:617157
HP:0010767	Sacrococcygeal pilonidal abnormality	7468	NSD2	OMIM:619695
HP:0010767	Sacrococcygeal pilonidal abnormality	7468	NSD2	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	7468	NSD2	OMIM:194190
HP:0010767	Sacrococcygeal pilonidal abnormality	9968	MED12	ORPHA:93932
HP:0010767	Sacrococcygeal pilonidal abnormality	9968	MED12	OMIM:305450
HP:0010767	Sacrococcygeal pilonidal abnormality	64359	NXN	ORPHA:1507
HP:0010767	Sacrococcygeal pilonidal abnormality	4920	ROR2	ORPHA:1507
HP:0010767	Sacrococcygeal pilonidal abnormality	3209	HOXA13	ORPHA:2438
HP:0010767	Sacrococcygeal pilonidal abnormality	54539	NDUFB11	ORPHA:2556
HP:0010767	Sacrococcygeal pilonidal abnormality	1349	COX7B	ORPHA:2556
HP:0010767	Sacrococcygeal pilonidal abnormality	3052	HCCS	ORPHA:2556
HP:0010767	Sacrococcygeal pilonidal abnormality	1717	DHCR7	OMIM:270400
HP:0010767	Sacrococcygeal pilonidal abnormality	5422	POLA1	OMIM:301030
HP:0010767	Sacrococcygeal pilonidal abnormality	9496	TBX4	ORPHA:261279
HP:0010767	Sacrococcygeal pilonidal abnormality	10815	CPLX1	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	10815	CPLX1	OMIM:194190
HP:0010767	Sacrococcygeal pilonidal abnormality	54872	PIGG	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	7469	NELFA	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	1487	CTBP1	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	1487	CTBP1	OMIM:194190
HP:0010767	Sacrococcygeal pilonidal abnormality	3954	LETM1	ORPHA:280
HP:0010767	Sacrococcygeal pilonidal abnormality	3954	LETM1	OMIM:194190
HP:0010767	Sacrococcygeal pilonidal abnormality	80776	B9D2	OMIM:614175
HP:0010767	Sacrococcygeal pilonidal abnormality	51305	KCNK9	ORPHA:166108
HP:0010767	Sacrococcygeal pilonidal abnormality	51305	KCNK9	OMIM:612292
HP:0010767	Sacrococcygeal pilonidal abnormality	2783	GNB2	OMIM:619503
HP:0010767	Sacrococcygeal pilonidal abnormality	79633	FAT4	OMIM:615546
HP:0010767	Sacrococcygeal pilonidal abnormality	8642	DCHS1	OMIM:601390
HP:0010767	Sacrococcygeal pilonidal abnormality	53834	FGFRL1	OMIM:194190
HP:0010767	Sacrococcygeal pilonidal abnormality	10522	DEAF1	OMIM:615828
HP:0010767	Sacrococcygeal pilonidal abnormality	165	AEBP1	ORPHA:536532
HP:0010767	Sacrococcygeal pilonidal abnormality	3981	LIG4	ORPHA:235
HP:0010767	Sacrococcygeal pilonidal abnormality	54888	NSUN2	ORPHA:235
HP:0010767	Sacrococcygeal pilonidal abnormality	10664	CTCF	ORPHA:363611
HP:0010767	Sacrococcygeal pilonidal abnormality	10664	CTCF	OMIM:615502
HP:0010767	Sacrococcygeal pilonidal abnormality	56006	SMG9	OMIM:619995
HP:0010767	Sacrococcygeal pilonidal abnormality	8558	CDK10	OMIM:617694
HP:0010767	Sacrococcygeal pilonidal abnormality	51633	OTUD6B	OMIM:617452
HP:0010767	Sacrococcygeal pilonidal abnormality	51633	OTUD6B	ORPHA:505237
HP:0010767	Sacrococcygeal pilonidal abnormality	1857	DVL3	ORPHA:3107
HP:0010767	Sacrococcygeal pilonidal abnormality	1857	DVL3	OMIM:616894
HP:0010767	Sacrococcygeal pilonidal abnormality	7474	WNT5A	ORPHA:3107
HP:0010767	Sacrococcygeal pilonidal abnormality	7474	WNT5A	OMIM:180700
HP:0010767	Sacrococcygeal pilonidal abnormality	2535	FZD2	ORPHA:3107
HP:0010767	Sacrococcygeal pilonidal abnormality	8239	USP9X	ORPHA:480880
HP:0010767	Sacrococcygeal pilonidal abnormality	8239	USP9X	OMIM:300968
HP:0010767	Sacrococcygeal pilonidal abnormality	6804	STX1A	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	7461	CLIP2	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	84277	DNAJC30	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	8468	FKBP6	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	5982	RFC2	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	2969	GTF2I	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	3984	LIMK1	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	9569	GTF2IRD1	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	155382	VPS37D	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	155368	METTL27	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	114049	BUD23	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	7458	EIF4H	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	84163	GTF2IRD2	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	9275	BCL7B	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	26608	TBL2	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	653361	NCF1	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	135886	TMEM270	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	51085	MLXIPL	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	9031	BAZ1B	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	2006	ELN	ORPHA:904
HP:0010767	Sacrococcygeal pilonidal abnormality	6134	RPL10	ORPHA:459070
HP:0010767	Sacrococcygeal pilonidal abnormality	286	ANK1	ORPHA:251066
HP:0010767	Sacrococcygeal pilonidal abnormality	54499	TMCO1	OMIM:213980
HP:0010767	Sacrococcygeal pilonidal abnormality	8405	SPOP	OMIM:618828
HP:0010767	Sacrococcygeal pilonidal abnormality	23137	SMC5	OMIM:620185
HP:0010767	Sacrococcygeal pilonidal abnormality	23405	DICER1	OMIM:618272
HP:0010767	Sacrococcygeal pilonidal abnormality	2187	FANCB	OMIM:314390
HP:0010767	Sacrococcygeal pilonidal abnormality	7547	ZIC3	OMIM:314390
HP:0010767	Sacrococcygeal pilonidal abnormality	8314	BAP1	OMIM:619762
HP:0010767	Sacrococcygeal pilonidal abnormality	6872	TAF1	OMIM:300966
HP:0010767	Sacrococcygeal pilonidal abnormality	374879	ZNF699	OMIM:619488
HP:0010767	Sacrococcygeal pilonidal abnormality	51715	RAB23	OMIM:201000
HP:0010767	Sacrococcygeal pilonidal abnormality	64093	SMOC1	OMIM:206920
HP:0010767	Sacrococcygeal pilonidal abnormality	79971	WLS	OMIM:619648
HP:0010767	Sacrococcygeal pilonidal abnormality	6925	TCF4	OMIM:610954
HP:0010767	Sacrococcygeal pilonidal abnormality	3090	HIC1	ORPHA:531
HP:0010767	Sacrococcygeal pilonidal abnormality	5048	PAFAH1B1	ORPHA:531
HP:0010767	Sacrococcygeal pilonidal abnormality	7531	YWHAE	ORPHA:531
HP:0010767	Sacrococcygeal pilonidal abnormality	4123	MAN2C1	OMIM:619775
HP:0010767	Sacrococcygeal pilonidal abnormality	3977	LIFR	ORPHA:3206
HP:0010767	Sacrococcygeal pilonidal abnormality	57479	PRR12	OMIM:619539
HP:0010767	Sacrococcygeal pilonidal abnormality	5718	PSMD12	OMIM:617516
HP:0010767	Sacrococcygeal pilonidal abnormality	55191	NADSYN1	OMIM:618845
HP:0010767	Sacrococcygeal pilonidal abnormality	10225	CD96	ORPHA:1308
HP:0010767	Sacrococcygeal pilonidal abnormality	23299	BICD2	OMIM:618291
HP:0010767	Sacrococcygeal pilonidal abnormality	171023	ASXL1	OMIM:605039
HP:0010767	Sacrococcygeal pilonidal abnormality	25914	RTTN	ORPHA:468631
HP:0010767	Sacrococcygeal pilonidal abnormality	6899	TBX1	OMIM:188400
HP:0010767	Sacrococcygeal pilonidal abnormality	7476	WNT7A	OMIM:276820
HP:0010767	Sacrococcygeal pilonidal abnormality	2799	GNS	OMIM:252940
HP:0010769	Pilonidal sinus	6899	TBX1	OMIM:188400
HP:0010769	Pilonidal sinus	7476	WNT7A	OMIM:276820
HP:0010769	Pilonidal sinus	2799	GNS	OMIM:252940
HP:0007705	Corneal degeneration	1296	COL8A2	OMIM:136800
HP:0007875	Congenital blindness	4041	LRP5	ORPHA:2788
HP:0007875	Congenital blindness	4041	LRP5	OMIM:259770
HP:0007875	Congenital blindness	471	ATIC	ORPHA:250977
HP:0007875	Congenital blindness	471	ATIC	OMIM:608688
HP:0007875	Congenital blindness	1757	SARDH	ORPHA:3129
HP:0007875	Congenital blindness	80184	CEP290	OMIM:610188
HP:0007875	Congenital blindness	286053	NSMCE2	ORPHA:436182
HP:0007875	Congenital blindness	7518	XRCC4	ORPHA:436182
HP:0007875	Congenital blindness	343035	RD3	OMIM:610612
HP:0007875	Congenital blindness	9227	LRAT	OMIM:613341
HP:0007707	Congenital aphakia	4519	MT-CYB	ORPHA:137675
HP:0007707	Congenital aphakia	2301	FOXE3	ORPHA:83461
HP:0007707	Congenital aphakia	2301	FOXE3	OMIM:610256
HP:0007707	Congenital aphakia	4796	TONSL	ORPHA:93357
HP:0007709	Band-shaped corneal dystrophy	1634	DCN	OMIM:610048
HP:0007710	Peripheral vitreous opacities	5080	PAX6	ORPHA:137902
HP:0007710	Peripheral vitreous opacities	4693	NDP	OMIM:305390
HP:0010920	Zonular cataract	10484	SEC23A	OMIM:607812
HP:0010920	Zonular cataract	4094	MAF	OMIM:610202
HP:0010920	Zonular cataract	3982	LIM2	OMIM:615277
HP:0010920	Zonular cataract	5062	PAK2	OMIM:618458
HP:0010920	Zonular cataract	4952	OCRL	OMIM:309000
HP:0010920	Zonular cataract	1413	CRYBA4	OMIM:610425
HP:0010920	Zonular cataract	1419	CRYGB	OMIM:615188
HP:0010920	Zonular cataract	84816	RTN4IP1	OMIM:616732
HP:0010920	Zonular cataract	7439	BEST1	OMIM:193220
HP:0010920	Zonular cataract	7431	VIM	OMIM:116300
HP:0010920	Zonular cataract	4810	NHS	OMIM:302200
HP:0010920	Zonular cataract	1427	CRYGS	OMIM:116100
HP:0010920	Zonular cataract	35	ACADS	OMIM:201470
HP:0010920	Zonular cataract	2702	GJA5	OMIM:612474
HP:0010920	Zonular cataract	2703	GJA8	OMIM:612474
HP:0010920	Zonular cataract	1415	CRYBB2	OMIM:601547
HP:0010920	Zonular cataract	9401	RECQL4	OMIM:268400
HP:0010920	Zonular cataract	1411	CRYBA1	OMIM:600881
HP:0010920	Zonular cataract	3299	HSF4	OMIM:116800
HP:0010920	Zonular cataract	2700	GJA3	OMIM:601885
HP:0010920	Zonular cataract	8443	GNPAT	OMIM:222765
HP:0010920	Zonular cataract	6513	SLC2A1	ORPHA:168577
HP:0010920	Zonular cataract	81570	CLPB	OMIM:616271
HP:0010920	Zonular cataract	8314	BAP1	ORPHA:39044
HP:0010920	Zonular cataract	57105	CYSLTR2	ORPHA:39044
HP:0010920	Zonular cataract	2776	GNAQ	ORPHA:39044
HP:0010920	Zonular cataract	2767	GNA11	ORPHA:39044
HP:0010920	Zonular cataract	23451	SF3B1	ORPHA:39044
HP:0010920	Zonular cataract	80207	OPA3	ORPHA:67036
HP:0010920	Zonular cataract	55229	PANK4	OMIM:619593
HP:0010920	Zonular cataract	1420	CRYGC	OMIM:604307
HP:0010920	Zonular cataract	631	BFSP1	OMIM:611391
HP:0010920	Zonular cataract	4284	MIP	OMIM:615274
HP:0010920	Zonular cataract	7466	WFS1	OMIM:116400
HP:0010920	Zonular cataract	10002	NR2E3	OMIM:611131
HP:0010920	Zonular cataract	79797	ZNF408	OMIM:616468
HP:0010920	Zonular cataract	1417	CRYBB3	OMIM:609741
HP:0010920	Zonular cataract	128866	CHMP4B	OMIM:605387
HP:0010920	Zonular cataract	2512	FTL	OMIM:600886
HP:0010920	Zonular cataract	50939	IMPG2	OMIM:613581
HP:0010920	Zonular cataract	755	CFAP410	OMIM:617547
HP:0010920	Zonular cataract	10216	PRG4	ORPHA:2848
HP:0010920	Zonular cataract	4598	MVK	OMIM:610377
HP:0010920	Zonular cataract	2697	GJA1	ORPHA:1010
HP:0010920	Zonular cataract	1414	CRYBB1	OMIM:611544
HP:0010920	Zonular cataract	79443	FYCO1	OMIM:610019
HP:0010920	Zonular cataract	2584	GALK1	ORPHA:79237
HP:0010920	Zonular cataract	80781	COL18A1	OMIM:267750
HP:0010920	Zonular cataract	57670	KIAA1549	OMIM:618613
HP:0010920	Zonular cataract	4771	NF2	ORPHA:637
HP:0010920	Zonular cataract	4771	NF2	OMIM:101000
HP:0000551	Color vision defect	778	CACNA1F	OMIM:300476
HP:0000551	Color vision defect	778	CACNA1F	ORPHA:178333
HP:0000551	Color vision defect	778	CACNA1F	ORPHA:1872
HP:0000551	Color vision defect	778	CACNA1F	ORPHA:215
HP:0000551	Color vision defect	5961	PRPH2	ORPHA:99000
HP:0000551	Color vision defect	5961	PRPH2	ORPHA:827
HP:0000551	Color vision defect	5961	PRPH2	ORPHA:1872
HP:0000551	Color vision defect	5961	PRPH2	OMIM:608161
HP:0000551	Color vision defect	7439	BEST1	ORPHA:99000
HP:0000551	Color vision defect	7439	BEST1	ORPHA:1243
HP:0000551	Color vision defect	7439	BEST1	OMIM:193220
HP:0000551	Color vision defect	50939	IMPG2	ORPHA:99000
HP:0000551	Color vision defect	3617	IMPG1	ORPHA:99000
HP:0000551	Color vision defect	8787	RGS9	OMIM:608415
HP:0000551	Color vision defect	24	ABCA4	OMIM:604116
HP:0000551	Color vision defect	24	ABCA4	ORPHA:827
HP:0000551	Color vision defect	24	ABCA4	ORPHA:1872
HP:0000551	Color vision defect	83394	PITPNM3	OMIM:600977
HP:0000551	Color vision defect	83394	PITPNM3	ORPHA:1872
HP:0000551	Color vision defect	22999	RIMS1	OMIM:603649
HP:0000551	Color vision defect	22999	RIMS1	ORPHA:1872
HP:0000551	Color vision defect	138050	HGSNAT	OMIM:616544
HP:0000551	Color vision defect	285440	CYP4V2	ORPHA:41751
HP:0000551	Color vision defect	57096	RPGRIP1	OMIM:608194
HP:0000551	Color vision defect	57096	RPGRIP1	ORPHA:1872
HP:0000551	Color vision defect	8842	PROM1	ORPHA:827
HP:0000551	Color vision defect	8842	PROM1	ORPHA:1872
HP:0000551	Color vision defect	8842	PROM1	OMIM:612657
HP:0000551	Color vision defect	6785	ELOVL4	ORPHA:827
HP:0000551	Color vision defect	64802	NMNAT1	OMIM:608553
HP:0000551	Color vision defect	64802	NMNAT1	ORPHA:1872
HP:0000551	Color vision defect	57010	CABP4	OMIM:610427
HP:0000551	Color vision defect	57010	CABP4	ORPHA:215
HP:0000551	Color vision defect	1406	CRX	OMIM:120970
HP:0000551	Color vision defect	1406	CRX	ORPHA:1872
HP:0000551	Color vision defect	224	ALDH3A2	OMIM:270200
HP:0000551	Color vision defect	4547	MTTP	ORPHA:14
HP:0000551	Color vision defect	1678	TIMM8A	ORPHA:52368
HP:0000551	Color vision defect	9227	LRAT	ORPHA:364055
HP:0000551	Color vision defect	55812	SPATA7	ORPHA:364055
HP:0000551	Color vision defect	6121	RPE65	ORPHA:364055
HP:0000551	Color vision defect	167691	LCA5	ORPHA:364055
HP:0000551	Color vision defect	8481	OFD1	OMIM:300424
HP:0000551	Color vision defect	6017	RLBP1	ORPHA:85128
HP:0000551	Color vision defect	6017	RLBP1	OMIM:607476
HP:0000551	Color vision defect	8566	PDXK	OMIM:618511
HP:0000551	Color vision defect	92211	CDHR1	OMIM:613660
HP:0000551	Color vision defect	92211	CDHR1	ORPHA:1872
HP:0000551	Color vision defect	84816	RTN4IP1	OMIM:616732
HP:0000551	Color vision defect	84839	RAX2	ORPHA:1872
HP:0000551	Color vision defect	5956	OPN1LW	ORPHA:1872
HP:0000551	Color vision defect	755	CFAP410	ORPHA:1872
HP:0000551	Color vision defect	8754	ADAM9	ORPHA:1872
HP:0000551	Color vision defect	128338	DRAM2	ORPHA:1872
HP:0000551	Color vision defect	2652	OPN1MW	ORPHA:1872
HP:0000551	Color vision defect	9094	UNC119	ORPHA:1872
HP:0000551	Color vision defect	93589	CACNA2D4	ORPHA:1872
HP:0000551	Color vision defect	93589	CACNA2D4	ORPHA:215
HP:0000551	Color vision defect	2978	GUCA1A	ORPHA:1872
HP:0000551	Color vision defect	2978	GUCA1A	ORPHA:1871
HP:0000551	Color vision defect	64218	SEMA4A	ORPHA:1872
HP:0000551	Color vision defect	23093	TTLL5	ORPHA:1872
HP:0000551	Color vision defect	83723	TLCD3B	ORPHA:1872
HP:0000551	Color vision defect	157657	CFAP418	ORPHA:1872
HP:0000551	Color vision defect	23746	AIPL1	ORPHA:1872
HP:0000551	Color vision defect	9364	RAB28	ORPHA:1872
HP:0000551	Color vision defect	54832	VPS13C	ORPHA:2828
HP:0000551	Color vision defect	11315	PARK7	ORPHA:2828
HP:0000551	Color vision defect	7345	UCHL1	ORPHA:2828
HP:0000551	Color vision defect	27429	HTRA2	ORPHA:2828
HP:0000551	Color vision defect	120892	LRRK2	ORPHA:2828
HP:0000551	Color vision defect	9829	DNAJC6	ORPHA:2828
HP:0000551	Color vision defect	6622	SNCA	ORPHA:2828
HP:0000551	Color vision defect	5420	PODXL	ORPHA:2828
HP:0000551	Color vision defect	65018	PINK1	ORPHA:2828
HP:0000551	Color vision defect	8867	SYNJ1	ORPHA:2828
HP:0000551	Color vision defect	5071	PRKN	ORPHA:2828
HP:0000551	Color vision defect	7287	TULP1	OMIM:613843
HP:0000551	Color vision defect	4308	TRPM1	ORPHA:215
HP:0000551	Color vision defect	345193	LRIT3	ORPHA:215
HP:0000551	Color vision defect	2916	GRM6	ORPHA:215
HP:0000551	Color vision defect	5158	PDE6B	ORPHA:215
HP:0000551	Color vision defect	440435	GPR179	ORPHA:215
HP:0000551	Color vision defect	6011	GRK1	ORPHA:215
HP:0000551	Color vision defect	6010	RHO	ORPHA:215
HP:0000551	Color vision defect	9187	SLC24A1	ORPHA:215
HP:0000551	Color vision defect	6295	SAG	ORPHA:215
HP:0000551	Color vision defect	2784	GNB3	ORPHA:215
HP:0000551	Color vision defect	2779	GNAT1	ORPHA:215
HP:0000551	Color vision defect	60506	NYX	ORPHA:215
HP:0000551	Color vision defect	9927	MFN2	OMIM:601152
HP:0000551	Color vision defect	2260	FGFR1	ORPHA:478
HP:0000551	Color vision defect	10371	SEMA3A	ORPHA:478
HP:0000551	Color vision defect	81848	SPRY4	ORPHA:478
HP:0000551	Color vision defect	23767	FLRT3	ORPHA:478
HP:0000551	Color vision defect	128674	PROKR2	ORPHA:478
HP:0000551	Color vision defect	79625	NDNF	ORPHA:478
HP:0000551	Color vision defect	2253	FGF8	ORPHA:478
HP:0000551	Color vision defect	389549	FEZF1	ORPHA:478
HP:0000551	Color vision defect	1630	DCC	ORPHA:478
HP:0000551	Color vision defect	3730	ANOS1	ORPHA:478
HP:0000551	Color vision defect	54756	IL17RD	ORPHA:478
HP:0000551	Color vision defect	6663	SOX10	ORPHA:478
HP:0000551	Color vision defect	285025	CCDC141	ORPHA:478
HP:0000551	Color vision defect	60675	PROK2	ORPHA:478
HP:0000551	Color vision defect	55636	CHD7	ORPHA:478
HP:0000551	Color vision defect	1848	DUSP6	ORPHA:478
HP:0000551	Color vision defect	6870	TACR3	ORPHA:478
HP:0000551	Color vision defect	55717	WDR11	ORPHA:478
HP:0000551	Color vision defect	9394	HS6ST1	ORPHA:478
HP:0000551	Color vision defect	8820	HESX1	ORPHA:478
HP:0000551	Color vision defect	8822	FGF17	ORPHA:478
HP:0000551	Color vision defect	282809	POC1B	OMIM:615973
HP:0000551	Color vision defect	10002	NR2E3	OMIM:611131
HP:0000551	Color vision defect	10059	DNM1L	OMIM:610708
HP:0000551	Color vision defect	611	OPN1SW	OMIM:190900
HP:0000551	Color vision defect	611	OPN1SW	ORPHA:88629
HP:0000551	Color vision defect	5950	RBP4	OMIM:615147
HP:0000551	Color vision defect	4976	OPA1	OMIM:125250
HP:0000551	Color vision defect	4976	OPA1	OMIM:165500
HP:0000551	Color vision defect	114902	C1QTNF5	ORPHA:67042
HP:0000551	Color vision defect	3000	GUCY2D	OMIM:618555
HP:0000551	Color vision defect	80207	OPA3	ORPHA:67036
HP:0000551	Color vision defect	256471	MFSD8	OMIM:616170
HP:0000551	Color vision defect	50	ACO2	OMIM:616289
HP:0000551	Color vision defect	2259	FGF14	ORPHA:98764
HP:0000551	Color vision defect	91574	MTRFR	ORPHA:254930
HP:0000551	Color vision defect	7084	TK2	ORPHA:254886
HP:0000551	Color vision defect	5428	POLG	ORPHA:254886
HP:0000551	Color vision defect	5428	POLG	OMIM:258450
HP:0000551	Color vision defect	22880	MORC2	ORPHA:466768
HP:0000551	Color vision defect	84131	CEP78	OMIM:617236
HP:0000551	Color vision defect	84233	TMEM126A	OMIM:612989
HP:0000551	Color vision defect	22926	ATF6	ORPHA:49382
HP:0000551	Color vision defect	5146	PDE6C	ORPHA:49382
HP:0000551	Color vision defect	6103	RPGR	ORPHA:49382
HP:0000551	Color vision defect	5149	PDE6H	ORPHA:49382
HP:0000551	Color vision defect	2780	GNAT2	ORPHA:49382
HP:0000551	Color vision defect	1261	CNGA3	ORPHA:49382
HP:0000551	Color vision defect	54714	CNGB3	ORPHA:49382
HP:0000551	Color vision defect	54714	CNGB3	OMIM:262300
HP:0000551	Color vision defect	26504	CNNM4	OMIM:217080
HP:0000551	Color vision defect	51594	NBAS	OMIM:614800
HP:0000551	Color vision defect	79152	FA2H	ORPHA:329308
HP:0000551	Color vision defect	10939	AFG3L2	OMIM:618977
HP:0000552	Tritanomaly	282809	POC1B	OMIM:615973
HP:0000552	Tritanomaly	10002	NR2E3	OMIM:611131
HP:0000552	Tritanomaly	10059	DNM1L	OMIM:610708
HP:0000552	Tritanomaly	611	OPN1SW	OMIM:190900
HP:0000552	Tritanomaly	611	OPN1SW	ORPHA:88629
HP:0000552	Tritanomaly	5950	RBP4	OMIM:615147
HP:0000552	Tritanomaly	4976	OPA1	OMIM:125250
HP:0000552	Tritanomaly	4976	OPA1	OMIM:165500
HP:0000552	Tritanomaly	114902	C1QTNF5	ORPHA:67042
HP:0000552	Tritanomaly	3000	GUCY2D	OMIM:618555
HP:0000552	Tritanomaly	80207	OPA3	ORPHA:67036
HP:0000553	Abnormal uvea morphology	29925	GMPPB	ORPHA:370959
HP:0000553	Abnormal uvea morphology	79147	FKRP	ORPHA:370959
HP:0000553	Abnormal uvea morphology	29954	POMT2	ORPHA:370959
HP:0000553	Abnormal uvea morphology	84197	POMK	ORPHA:370959
HP:0000553	Abnormal uvea morphology	55624	POMGNT1	ORPHA:370959
HP:0000553	Abnormal uvea morphology	10585	POMT1	ORPHA:370959
HP:0000553	Abnormal uvea morphology	10716	TBR1	ORPHA:1617
HP:0000553	Abnormal uvea morphology	2202	EFEMP1	ORPHA:98977
HP:0000553	Abnormal uvea morphology	1545	CYP1B1	ORPHA:98977
HP:0000553	Abnormal uvea morphology	4629	MYH11	ORPHA:91387
HP:0000553	Abnormal uvea morphology	7046	TGFBR1	ORPHA:91387
HP:0000553	Abnormal uvea morphology	7048	TGFBR2	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4015	LOX	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4087	SMAD2	ORPHA:91387
HP:0000553	Abnormal uvea morphology	7043	TGFB3	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4088	SMAD3	ORPHA:91387
HP:0000553	Abnormal uvea morphology	7042	TGFB2	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4089	SMAD4	ORPHA:91387
HP:0000553	Abnormal uvea morphology	5592	PRKG1	ORPHA:91387
HP:0000553	Abnormal uvea morphology	2301	FOXE3	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4144	MAT2A	ORPHA:91387
HP:0000553	Abnormal uvea morphology	23493	HEY2	ORPHA:91387
HP:0000553	Abnormal uvea morphology	8076	MFAP5	ORPHA:91387
HP:0000553	Abnormal uvea morphology	4638	MYLK	ORPHA:91387
HP:0000553	Abnormal uvea morphology	64840	PORCN	OMIM:305600
HP:0000553	Abnormal uvea morphology	197257	LDHD	OMIM:245450
HP:0000553	Abnormal uvea morphology	54765	TRIM44	ORPHA:250923
HP:0000553	Abnormal uvea morphology	54765	TRIM44	OMIM:617142
HP:0000553	Abnormal uvea morphology	7428	VHL	ORPHA:29072
HP:0000553	Abnormal uvea morphology	1743	DLST	ORPHA:29072
HP:0000553	Abnormal uvea morphology	4191	MDH2	ORPHA:29072
HP:0000553	Abnormal uvea morphology	5979	RET	ORPHA:29072
HP:0000553	Abnormal uvea morphology	6389	SDHA	ORPHA:29072
HP:0000553	Abnormal uvea morphology	23095	KIF1B	ORPHA:29072
HP:0000553	Abnormal uvea morphology	2271	FH	ORPHA:29072
HP:0000553	Abnormal uvea morphology	8402	SLC25A11	ORPHA:29072
HP:0000553	Abnormal uvea morphology	54949	SDHAF2	ORPHA:29072
HP:0000553	Abnormal uvea morphology	55654	TMEM127	ORPHA:29072
HP:0000553	Abnormal uvea morphology	4763	NF1	ORPHA:29072
HP:0000553	Abnormal uvea morphology	6391	SDHC	ORPHA:29072
HP:0000553	Abnormal uvea morphology	6392	SDHD	ORPHA:29072
HP:0000553	Abnormal uvea morphology	6390	SDHB	ORPHA:29072
HP:0000553	Abnormal uvea morphology	4149	MAX	ORPHA:29072
HP:0000553	Abnormal uvea morphology	3708	ITPR1	ORPHA:1065
HP:0000553	Abnormal uvea morphology	3708	ITPR1	OMIM:206700
HP:0000553	Abnormal uvea morphology	26610	ELP4	OMIM:617141
HP:0000553	Abnormal uvea morphology	1750	DLX6	ORPHA:2440
HP:0000553	Abnormal uvea morphology	7979	SEM1	ORPHA:2440
HP:0000553	Abnormal uvea morphology	8945	BTRC	ORPHA:2440
HP:0000553	Abnormal uvea morphology	58513	EPS15L1	ORPHA:2440
HP:0000553	Abnormal uvea morphology	6468	FBXW4	ORPHA:2440
HP:0000553	Abnormal uvea morphology	7480	WNT10B	ORPHA:2440
HP:0000553	Abnormal uvea morphology	1749	DLX5	ORPHA:2440
HP:0000553	Abnormal uvea morphology	5978	REST	ORPHA:654
HP:0000553	Abnormal uvea morphology	129563	DIS3L2	ORPHA:654
HP:0000553	Abnormal uvea morphology	9319	TRIP13	ORPHA:654
HP:0000553	Abnormal uvea morphology	10155	TRIM28	ORPHA:654
HP:0000553	Abnormal uvea morphology	11281	POU6F2	ORPHA:654
HP:0000553	Abnormal uvea morphology	2719	GPC3	ORPHA:654
HP:0000553	Abnormal uvea morphology	283120	H19	ORPHA:654
HP:0000553	Abnormal uvea morphology	63901	FAM111A	OMIM:602361
HP:0000553	Abnormal uvea morphology	3030	HADHA	ORPHA:5
HP:0000553	Abnormal uvea morphology	3105	HLA-A	ORPHA:179
HP:0000553	Abnormal uvea morphology	55670	PEX26	ORPHA:912
HP:0000553	Abnormal uvea morphology	5824	PEX19	ORPHA:912
HP:0000553	Abnormal uvea morphology	5828	PEX2	ORPHA:912
HP:0000553	Abnormal uvea morphology	8504	PEX3	ORPHA:912
HP:0000553	Abnormal uvea morphology	8799	PEX11B	ORPHA:912
HP:0000553	Abnormal uvea morphology	9409	PEX16	ORPHA:912
HP:0000553	Abnormal uvea morphology	5190	PEX6	ORPHA:912
HP:0000553	Abnormal uvea morphology	5830	PEX5	ORPHA:912
HP:0000553	Abnormal uvea morphology	5189	PEX1	ORPHA:912
HP:0000553	Abnormal uvea morphology	5193	PEX12	ORPHA:912
HP:0000553	Abnormal uvea morphology	5194	PEX13	ORPHA:912
HP:0000553	Abnormal uvea morphology	5195	PEX14	ORPHA:912
HP:0000553	Abnormal uvea morphology	5192	PEX10	ORPHA:912
HP:0000553	Abnormal uvea morphology	4567	MT-TL1	ORPHA:225
HP:0000553	Abnormal uvea morphology	4556	MT-TE	ORPHA:225
HP:0000553	Abnormal uvea morphology	4566	MT-TK	ORPHA:225
HP:0000553	Abnormal uvea morphology	346007	EYS	OMIM:602772
HP:0000553	Abnormal uvea morphology	1499	CTNNB1	ORPHA:891
HP:0000553	Abnormal uvea morphology	23554	TSPAN12	ORPHA:891
HP:0000553	Abnormal uvea morphology	4041	LRP5	ORPHA:891
HP:0000553	Abnormal uvea morphology	79797	ZNF408	ORPHA:891
HP:0000553	Abnormal uvea morphology	79797	ZNF408	OMIM:616468
HP:0000553	Abnormal uvea morphology	25794	FSCN2	OMIM:607921
HP:0000553	Abnormal uvea morphology	1181	CLCN2	OMIM:615651
HP:0000553	Abnormal uvea morphology	54820	NDE1	ORPHA:2177
HP:0000553	Abnormal uvea morphology	6295	SAG	OMIM:613758
HP:0000553	Abnormal uvea morphology	3000	GUCY2D	OMIM:215500
HP:0000553	Abnormal uvea morphology	3000	GUCY2D	OMIM:601777
HP:0000553	Abnormal uvea morphology	3000	GUCY2D	ORPHA:75377
HP:0000553	Abnormal uvea morphology	1406	CRX	OMIM:120970
HP:0000553	Abnormal uvea morphology	6094	ROM1	OMIM:608133
HP:0000553	Abnormal uvea morphology	5076	PAX2	OMIM:120330
HP:0000553	Abnormal uvea morphology	9227	LRAT	ORPHA:364055
HP:0000553	Abnormal uvea morphology	55812	SPATA7	ORPHA:364055
HP:0000553	Abnormal uvea morphology	6121	RPE65	ORPHA:364055
HP:0000553	Abnormal uvea morphology	6121	RPE65	OMIM:618697
HP:0000553	Abnormal uvea morphology	167691	LCA5	ORPHA:364055
HP:0000553	Abnormal uvea morphology	100147744	RNU7-1	OMIM:619487
HP:0000553	Abnormal uvea morphology	182	JAG1	OMIM:118450
HP:0000553	Abnormal uvea morphology	1462	VCAN	OMIM:143200
HP:0000553	Abnormal uvea morphology	2978	GUCA1A	ORPHA:75377
HP:0000553	Abnormal uvea morphology	3423	IDS	ORPHA:217085
HP:0000553	Abnormal uvea morphology	3423	IDS	ORPHA:217093
HP:0000553	Abnormal uvea morphology	114548	NLRP3	ORPHA:575
HP:0000553	Abnormal uvea morphology	114548	NLRP3	ORPHA:1451
HP:0000553	Abnormal uvea morphology	114548	NLRP3	OMIM:607115
HP:0000553	Abnormal uvea morphology	114548	NLRP3	OMIM:120100
HP:0000553	Abnormal uvea morphology	220202	ATOH7	OMIM:221900
HP:0000553	Abnormal uvea morphology	355	FAS	ORPHA:3261
HP:0000553	Abnormal uvea morphology	356	FASLG	ORPHA:3261
HP:0000553	Abnormal uvea morphology	5580	PRKCD	ORPHA:3261
HP:0000553	Abnormal uvea morphology	843	CASP10	ORPHA:3261
HP:0000553	Abnormal uvea morphology	10125	RASGRP1	ORPHA:3261
HP:0000553	Abnormal uvea morphology	51360	MBTPS2	ORPHA:2273
HP:0000553	Abnormal uvea morphology	2859	GPR35	ORPHA:171
HP:0000553	Abnormal uvea morphology	10507	SEMA4D	ORPHA:171
HP:0000553	Abnormal uvea morphology	4485	MST1	ORPHA:171
HP:0000553	Abnormal uvea morphology	6925	TCF4	ORPHA:171
HP:0000553	Abnormal uvea morphology	56244	BTNL2	OMIM:612387
HP:0000553	Abnormal uvea morphology	56244	BTNL2	ORPHA:797
HP:0000553	Abnormal uvea morphology	987	LRBA	OMIM:614700
HP:0000553	Abnormal uvea morphology	1776	DNASE1L3	ORPHA:36412
HP:0000553	Abnormal uvea morphology	1161	ERCC8	ORPHA:90321
HP:0000553	Abnormal uvea morphology	1161	ERCC8	ORPHA:90322
HP:0000553	Abnormal uvea morphology	2074	ERCC6	ORPHA:90321
HP:0000553	Abnormal uvea morphology	2074	ERCC6	ORPHA:90322
HP:0000553	Abnormal uvea morphology	2067	ERCC1	ORPHA:90322
HP:0000553	Abnormal uvea morphology	641	BLM	ORPHA:125
HP:0000553	Abnormal uvea morphology	7086	TKT	OMIM:617044
HP:0000553	Abnormal uvea morphology	7086	TKT	ORPHA:488618
HP:0000553	Abnormal uvea morphology	726	CAPN5	OMIM:193235
HP:0000553	Abnormal uvea morphology	939	CD27	OMIM:615122
HP:0000553	Abnormal uvea morphology	22861	NLRP1	OMIM:617388
HP:0000553	Abnormal uvea morphology	3662	IRF4	ORPHA:3452
HP:0000553	Abnormal uvea morphology	7132	TNFRSF1A	ORPHA:32960
HP:0000553	Abnormal uvea morphology	2697	GJA1	OMIM:164200
HP:0000553	Abnormal uvea morphology	26277	TINF2	OMIM:268130
HP:0000553	Abnormal uvea morphology	8322	FZD4	ORPHA:91495
HP:0000553	Abnormal uvea morphology	5925	RB1	OMIM:180200
HP:0000553	Abnormal uvea morphology	2767	GNA11	ORPHA:1556
HP:0000553	Abnormal uvea morphology	151188	ARL6IP6	ORPHA:1556
HP:0000553	Abnormal uvea morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000553	Abnormal uvea morphology	5295	PIK3R1	OMIM:269880
HP:0000553	Abnormal uvea morphology	53834	FGFRL1	OMIM:194190
HP:0000553	Abnormal uvea morphology	1487	CTBP1	OMIM:194190
HP:0000553	Abnormal uvea morphology	3954	LETM1	OMIM:194190
HP:0000553	Abnormal uvea morphology	7468	NSD2	OMIM:194190
HP:0000553	Abnormal uvea morphology	10815	CPLX1	OMIM:194190
HP:0000553	Abnormal uvea morphology	3480	IGF1R	OMIM:270450
HP:0000553	Abnormal uvea morphology	3913	LAMB2	OMIM:609049
HP:0000553	Abnormal uvea morphology	8260	NAA10	OMIM:309800
HP:0000553	Abnormal uvea morphology	8260	NAA10	ORPHA:568
HP:0000553	Abnormal uvea morphology	54880	BCOR	OMIM:309800
HP:0000553	Abnormal uvea morphology	54880	BCOR	ORPHA:568
HP:0000553	Abnormal uvea morphology	6711	SPTBN1	OMIM:619475
HP:0000553	Abnormal uvea morphology	56623	INPP5E	OMIM:213300
HP:0000553	Abnormal uvea morphology	56623	INPP5E	ORPHA:1454
HP:0000553	Abnormal uvea morphology	10413	YAP1	OMIM:120433
HP:0000553	Abnormal uvea morphology	10413	YAP1	ORPHA:1473
HP:0000553	Abnormal uvea morphology	9839	ZEB2	OMIM:235730
HP:0000553	Abnormal uvea morphology	6469	SHH	OMIM:611638
HP:0000553	Abnormal uvea morphology	207	AKT1	ORPHA:744
HP:0000553	Abnormal uvea morphology	79759	ZNF668	OMIM:620194
HP:0000553	Abnormal uvea morphology	6299	SALL1	OMIM:107480
HP:0000553	Abnormal uvea morphology	6299	SALL1	ORPHA:857
HP:0000553	Abnormal uvea morphology	64412	GZF1	OMIM:617662
HP:0000553	Abnormal uvea morphology	3149	HMGB3	OMIM:300915
HP:0000553	Abnormal uvea morphology	51339	DACT1	ORPHA:857
HP:0000553	Abnormal uvea morphology	9573	GDF3	OMIM:613702
HP:0000553	Abnormal uvea morphology	55636	CHD7	ORPHA:138
HP:0000553	Abnormal uvea morphology	9723	SEMA3E	ORPHA:138
HP:0000553	Abnormal uvea morphology	113246	C12orf57	OMIM:218340
HP:0000553	Abnormal uvea morphology	51322	WAC	ORPHA:284169
HP:0000553	Abnormal uvea morphology	473	RERE	ORPHA:494344
HP:0000553	Abnormal uvea morphology	652	BMP4	ORPHA:139471
HP:0000553	Abnormal uvea morphology	57020	VPS35L	OMIM:619135
HP:0000553	Abnormal uvea morphology	149461	CLDN19	ORPHA:2196
HP:0000553	Abnormal uvea morphology	8573	CASK	ORPHA:163937
HP:0000553	Abnormal uvea morphology	9487	PIGL	OMIM:280000
HP:0000553	Abnormal uvea morphology	8777	MPDZ	OMIM:615219
HP:0000553	Abnormal uvea morphology	4990	SIX6	OMIM:212550
HP:0000553	Abnormal uvea morphology	51524	TMEM138	ORPHA:2318
HP:0000553	Abnormal uvea morphology	23090	ZNF423	ORPHA:2318
HP:0000553	Abnormal uvea morphology	6496	SIX3	OMIM:157170
HP:0000553	Abnormal uvea morphology	50945	TBX22	ORPHA:921
HP:0000553	Abnormal uvea morphology	9897	WASHC5	ORPHA:7
HP:0000553	Abnormal uvea morphology	28952	CCDC22	ORPHA:7
HP:0000553	Abnormal uvea morphology	8842	PROM1	ORPHA:827
HP:0000553	Abnormal uvea morphology	6785	ELOVL4	ORPHA:827
HP:0000553	Abnormal uvea morphology	24	ABCA4	ORPHA:827
HP:0000553	Abnormal uvea morphology	54714	CNGB3	ORPHA:827
HP:0000553	Abnormal uvea morphology	7078	TIMP3	ORPHA:59181
HP:0000553	Abnormal uvea morphology	26022	TMEM98	ORPHA:35612
HP:0000553	Abnormal uvea morphology	220	ALDH1A3	ORPHA:35612
HP:0000553	Abnormal uvea morphology	646960	PRSS56	ORPHA:35612
HP:0000553	Abnormal uvea morphology	83552	MFRP	ORPHA:35612
HP:0000553	Abnormal uvea morphology	30062	RAX	ORPHA:35612
HP:0000553	Abnormal uvea morphology	5015	OTX2	ORPHA:35612
HP:0000553	Abnormal uvea morphology	6017	RLBP1	ORPHA:85128
HP:0000553	Abnormal uvea morphology	1188	CLCNKB	OMIM:607364
HP:0000553	Abnormal uvea morphology	3476	IGBP1	OMIM:300472
HP:0000553	Abnormal uvea morphology	3476	IGBP1	ORPHA:52055
HP:0000553	Abnormal uvea morphology	22827	PUF60	ORPHA:508498
HP:0000553	Abnormal uvea morphology	1409	CRYAA	OMIM:604219
HP:0000553	Abnormal uvea morphology	1409	CRYAA	ORPHA:1377
HP:0000553	Abnormal uvea morphology	23394	ADNP	ORPHA:404448
HP:0000553	Abnormal uvea morphology	1859	DYRK1A	ORPHA:268261
HP:0000553	Abnormal uvea morphology	406987	MIR204	OMIM:616722
HP:0000553	Abnormal uvea morphology	3845	KRAS	ORPHA:2612
HP:0000553	Abnormal uvea morphology	3845	KRAS	ORPHA:2396
HP:0000553	Abnormal uvea morphology	4893	NRAS	ORPHA:2612
HP:0000553	Abnormal uvea morphology	4919	ROR1	OMIM:617654
HP:0000553	Abnormal uvea morphology	145173	B3GLCT	ORPHA:709
HP:0000553	Abnormal uvea morphology	145173	B3GLCT	OMIM:261540
HP:0000553	Abnormal uvea morphology	7473	WNT3	ORPHA:3301
HP:0000553	Abnormal uvea morphology	340419	RSPO2	ORPHA:3301
HP:0000553	Abnormal uvea morphology	23126	POGZ	ORPHA:468678
HP:0000553	Abnormal uvea morphology	23126	POGZ	OMIM:616364
HP:0000553	Abnormal uvea morphology	2316	FLNA	OMIM:300244
HP:0000553	Abnormal uvea morphology	2316	FLNA	ORPHA:88630
HP:0000553	Abnormal uvea morphology	116931	MED12L	OMIM:618872
HP:0000553	Abnormal uvea morphology	4867	NPHP1	ORPHA:220497
HP:0000553	Abnormal uvea morphology	54806	AHI1	ORPHA:220493
HP:0000553	Abnormal uvea morphology	54806	AHI1	ORPHA:475
HP:0000553	Abnormal uvea morphology	153241	CEP120	ORPHA:220493
HP:0000553	Abnormal uvea morphology	153241	CEP120	ORPHA:475
HP:0000553	Abnormal uvea morphology	95681	CEP41	ORPHA:220493
HP:0000553	Abnormal uvea morphology	95681	CEP41	ORPHA:475
HP:0000553	Abnormal uvea morphology	1717	DHCR7	ORPHA:818
HP:0000553	Abnormal uvea morphology	26128	KIFBP	ORPHA:66629
HP:0000553	Abnormal uvea morphology	84892	POMGNT2	ORPHA:899
HP:0000553	Abnormal uvea morphology	148789	B3GALNT2	ORPHA:899
HP:0000553	Abnormal uvea morphology	9215	LARGE1	ORPHA:899
HP:0000553	Abnormal uvea morphology	729920	CRPPA	ORPHA:899
HP:0000553	Abnormal uvea morphology	10329	RXYLT1	ORPHA:899
HP:0000553	Abnormal uvea morphology	1605	DAG1	ORPHA:899
HP:0000553	Abnormal uvea morphology	11041	B4GAT1	ORPHA:899
HP:0000553	Abnormal uvea morphology	2218	FKTN	ORPHA:899
HP:0000553	Abnormal uvea morphology	28514	DLL1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	2253	FGF8	ORPHA:280200
HP:0000553	Abnormal uvea morphology	7050	TGIF1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	4838	NODAL	ORPHA:280200
HP:0000553	Abnormal uvea morphology	51684	SUFU	ORPHA:280200
HP:0000553	Abnormal uvea morphology	51684	SUFU	ORPHA:475
HP:0000553	Abnormal uvea morphology	51684	SUFU	ORPHA:377
HP:0000553	Abnormal uvea morphology	7546	ZIC2	ORPHA:280200
HP:0000553	Abnormal uvea morphology	2619	GAS1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	84976	DISP1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	2736	GLI2	ORPHA:280200
HP:0000553	Abnormal uvea morphology	8928	FOXH1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	5727	PTCH1	ORPHA:280200
HP:0000553	Abnormal uvea morphology	5727	PTCH1	OMIM:109400
HP:0000553	Abnormal uvea morphology	5727	PTCH1	OMIM:610828
HP:0000553	Abnormal uvea morphology	5727	PTCH1	ORPHA:377
HP:0000553	Abnormal uvea morphology	50937	CDON	ORPHA:280200
HP:0000553	Abnormal uvea morphology	6657	SOX2	ORPHA:77298
HP:0000553	Abnormal uvea morphology	4853	NOTCH2	OMIM:102500
HP:0000553	Abnormal uvea morphology	4853	NOTCH2	ORPHA:955
HP:0000553	Abnormal uvea morphology	2248	FGF3	ORPHA:2791
HP:0000553	Abnormal uvea morphology	1063	CENPF	OMIM:243605
HP:0000553	Abnormal uvea morphology	2263	FGFR2	ORPHA:207
HP:0000553	Abnormal uvea morphology	2077	ERF	ORPHA:207
HP:0000553	Abnormal uvea morphology	4313	MMP2	ORPHA:371428
HP:0000553	Abnormal uvea morphology	4323	MMP14	ORPHA:371428
HP:0000553	Abnormal uvea morphology	7020	TFAP2A	OMIM:113620
HP:0000553	Abnormal uvea morphology	7020	TFAP2A	ORPHA:1297
HP:0000553	Abnormal uvea morphology	54872	PIGG	ORPHA:280
HP:0000553	Abnormal uvea morphology	7469	NELFA	ORPHA:280
HP:0000553	Abnormal uvea morphology	338917	VSX2	OMIM:610092
HP:0000553	Abnormal uvea morphology	55714	TENM3	OMIM:615145
HP:0000553	Abnormal uvea morphology	523	ATP6V1A	OMIM:618012
HP:0000553	Abnormal uvea morphology	4854	NOTCH3	ORPHA:2789
HP:0000553	Abnormal uvea morphology	4591	TRIM37	OMIM:253250
HP:0000553	Abnormal uvea morphology	79644	SRD5A3	OMIM:612713
HP:0000553	Abnormal uvea morphology	6297	SALL2	OMIM:216820
HP:0000553	Abnormal uvea morphology	2313	FLI1	ORPHA:2308
HP:0000553	Abnormal uvea morphology	65250	CPLANE1	ORPHA:475
HP:0000553	Abnormal uvea morphology	200894	ARL13B	ORPHA:475
HP:0000553	Abnormal uvea morphology	9731	CEP104	ORPHA:475
HP:0000553	Abnormal uvea morphology	219844	HYLS1	ORPHA:475
HP:0000553	Abnormal uvea morphology	23247	KATNIP	ORPHA:475
HP:0000553	Abnormal uvea morphology	219854	TMEM218	ORPHA:475
HP:0000553	Abnormal uvea morphology	9786	KIAA0586	ORPHA:475
HP:0000553	Abnormal uvea morphology	10464	PIBF1	ORPHA:475
HP:0000553	Abnormal uvea morphology	80210	ARMC9	ORPHA:475
HP:0000553	Abnormal uvea morphology	23116	TOGARAM1	ORPHA:475
HP:0000553	Abnormal uvea morphology	25776	CBY1	ORPHA:475
HP:0000553	Abnormal uvea morphology	403	ARL3	ORPHA:475
HP:0000553	Abnormal uvea morphology	23347	SMCHD1	ORPHA:2250
HP:0000553	Abnormal uvea morphology	6608	SMO	OMIM:601707
HP:0000553	Abnormal uvea morphology	6608	SMO	ORPHA:1553
HP:0000553	Abnormal uvea morphology	1349	COX7B	OMIM:309801
HP:0000553	Abnormal uvea morphology	3052	HCCS	OMIM:309801
HP:0000553	Abnormal uvea morphology	54539	NDUFB11	OMIM:309801
HP:0000553	Abnormal uvea morphology	286	ANK1	ORPHA:251066
HP:0000553	Abnormal uvea morphology	60684	TRAPPC11	ORPHA:869
HP:0000553	Abnormal uvea morphology	8085	KMT2D	OMIM:620186
HP:0000553	Abnormal uvea morphology	85365	ALG2	ORPHA:79326
HP:0000553	Abnormal uvea morphology	85365	ALG2	OMIM:607906
HP:0000553	Abnormal uvea morphology	84172	POLR1B	ORPHA:861
HP:0000553	Abnormal uvea morphology	9533	POLR1C	ORPHA:861
HP:0000553	Abnormal uvea morphology	51082	POLR1D	ORPHA:861
HP:0000553	Abnormal uvea morphology	6949	TCOF1	ORPHA:861
HP:0000553	Abnormal uvea morphology	9338	TCEAL1	OMIM:301094
HP:0000553	Abnormal uvea morphology	7837	PXDN	OMIM:269400
HP:0000553	Abnormal uvea morphology	8643	PTCH2	ORPHA:377
HP:0000553	Abnormal uvea morphology	4094	MAF	OMIM:610202
HP:0000553	Abnormal uvea morphology	4094	MAF	ORPHA:1377
HP:0000553	Abnormal uvea morphology	10195	ALG3	OMIM:601110
HP:0000553	Abnormal uvea morphology	257	ALX3	ORPHA:391474
HP:0000553	Abnormal uvea morphology	2703	GJA8	ORPHA:1377
HP:0000553	Abnormal uvea morphology	1413	CRYBA4	ORPHA:1377
HP:0000553	Abnormal uvea morphology	1415	CRYBB2	ORPHA:1377
HP:0000553	Abnormal uvea morphology	1414	CRYBB1	ORPHA:1377
HP:0000553	Abnormal uvea morphology	1420	CRYGC	ORPHA:1377
HP:0000553	Abnormal uvea morphology	1421	CRYGD	ORPHA:1377
HP:0000553	Abnormal uvea morphology	10058	ABCB6	OMIM:614497
HP:0000553	Abnormal uvea morphology	1281	COL3A1	ORPHA:286
HP:0000553	Abnormal uvea morphology	112802	KRT71	ORPHA:170
HP:0000553	Abnormal uvea morphology	121391	KRT74	ORPHA:170
HP:0000553	Abnormal uvea morphology	200879	LIPH	ORPHA:170
HP:0000553	Abnormal uvea morphology	10161	LPAR6	ORPHA:170
HP:0000553	Abnormal uvea morphology	147183	KRT25	ORPHA:170
HP:0000553	Abnormal uvea morphology	8929	PHOX2B	ORPHA:2151
HP:0000553	Abnormal uvea morphology	4952	OCRL	ORPHA:534
HP:0000553	Abnormal uvea morphology	4359	MPZ	ORPHA:101082
HP:0000553	Abnormal uvea morphology	51132	RLIM	OMIM:300978
HP:0000553	Abnormal uvea morphology	5077	PAX3	OMIM:193500
HP:0000553	Abnormal uvea morphology	5077	PAX3	OMIM:148820
HP:0000553	Abnormal uvea morphology	57479	PRR12	OMIM:619539
HP:0000553	Abnormal uvea morphology	7299	TYR	OMIM:203100
HP:0000553	Abnormal uvea morphology	4948	OCA2	OMIM:203200
HP:0000553	Abnormal uvea morphology	4948	OCA2	ORPHA:79432
HP:0000553	Abnormal uvea morphology	4157	MC1R	OMIM:203200
HP:0000553	Abnormal uvea morphology	4157	MC1R	ORPHA:79432
HP:0000553	Abnormal uvea morphology	8924	HERC2	OMIM:615516
HP:0000553	Abnormal uvea morphology	51151	SLC45A2	OMIM:606574
HP:0000553	Abnormal uvea morphology	6638	SNRPN	OMIM:105830
HP:0000553	Abnormal uvea morphology	7337	UBE3A	OMIM:105830
HP:0000553	Abnormal uvea morphology	8626	TP63	OMIM:604292
HP:0000553	Abnormal uvea morphology	5573	PRKAR1A	ORPHA:280651
HP:0000553	Abnormal uvea morphology	5573	PRKAR1A	OMIM:101800
HP:0000553	Abnormal uvea morphology	5144	PDE4D	ORPHA:280651
HP:0000553	Abnormal uvea morphology	5144	PDE4D	OMIM:614613
HP:0000553	Abnormal uvea morphology	388552	BLOC1S3	OMIM:614077
HP:0000553	Abnormal uvea morphology	5594	MAPK1	OMIM:619087
HP:0000553	Abnormal uvea morphology	6663	SOX10	OMIM:613266
HP:0000553	Abnormal uvea morphology	6663	SOX10	OMIM:611584
HP:0000553	Abnormal uvea morphology	1908	EDN3	OMIM:613265
HP:0000553	Abnormal uvea morphology	4254	KITLG	OMIM:619947
HP:0000553	Abnormal uvea morphology	4286	MITF	OMIM:103500
HP:0000553	Abnormal uvea morphology	5053	PAH	OMIM:261600
HP:0000553	Abnormal uvea morphology	1910	EDNRB	OMIM:277580
HP:0000553	Abnormal uvea morphology	6654	SOS1	OMIM:610733
HP:0000553	Abnormal uvea morphology	7306	TYRP1	ORPHA:79433
HP:0000553	Abnormal uvea morphology	2623	GATA1	OMIM:190685
HP:0000553	Abnormal uvea morphology	444	ASPH	OMIM:601552
HP:0000553	Abnormal uvea morphology	27235	COQ2	OMIM:146500
HP:0000553	Abnormal uvea morphology	10273	STUB1	ORPHA:412057
HP:0000553	Abnormal uvea morphology	3123	HLA-DRB1	OMIM:181000
HP:0000553	Abnormal uvea morphology	6775	STAT4	ORPHA:85408
HP:0000553	Abnormal uvea morphology	3560	IL2RB	ORPHA:85408
HP:0000553	Abnormal uvea morphology	79722	ANKRD55	ORPHA:85408
HP:0000553	Abnormal uvea morphology	26191	PTPN22	ORPHA:85408
HP:0000553	Abnormal uvea morphology	919	CD247	ORPHA:85408
HP:0000553	Abnormal uvea morphology	3559	IL2RA	ORPHA:85408
HP:0000553	Abnormal uvea morphology	5771	PTPN2	ORPHA:85408
HP:0000553	Abnormal uvea morphology	326	AIRE	OMIM:240300
HP:0000553	Abnormal uvea morphology	64127	NOD2	ORPHA:90340
HP:0000553	Abnormal uvea morphology	3265	HRAS	ORPHA:79414
HP:0000553	Abnormal uvea morphology	6591	SNAI2	ORPHA:895
HP:0000553	Abnormal uvea morphology	6591	SNAI2	ORPHA:2884
HP:0000553	Abnormal uvea morphology	80153	EDC3	OMIM:616460
HP:0000553	Abnormal uvea morphology	3815	KIT	OMIM:172800
HP:0000553	Abnormal uvea morphology	3815	KIT	ORPHA:2884
HP:0000553	Abnormal uvea morphology	8518	ELP1	ORPHA:1764
HP:0000553	Abnormal uvea morphology	71	ACTG1	ORPHA:2995
HP:0000553	Abnormal uvea morphology	60	ACTB	ORPHA:2995
HP:0000553	Abnormal uvea morphology	2776	GNAQ	ORPHA:3205
HP:0000553	Abnormal uvea morphology	5728	PTEN	ORPHA:2969
HP:0000553	Abnormal uvea morphology	57724	EPG5	OMIM:242840
HP:0000553	Abnormal uvea morphology	8943	AP3D1	OMIM:617050
HP:0000553	Abnormal uvea morphology	8943	AP3D1	ORPHA:1000
HP:0000553	Abnormal uvea morphology	8943	AP3D1	ORPHA:54
HP:0000553	Abnormal uvea morphology	3257	HPS1	OMIM:203300
HP:0000553	Abnormal uvea morphology	5590	PRKCZ	ORPHA:1606
HP:0000553	Abnormal uvea morphology	2563	GABRD	ORPHA:1606
HP:0000553	Abnormal uvea morphology	23013	SPEN	ORPHA:1606
HP:0000553	Abnormal uvea morphology	8510	MMP23B	ORPHA:1606
HP:0000553	Abnormal uvea morphology	7798	LUZP1	ORPHA:1606
HP:0000553	Abnormal uvea morphology	6497	SKI	ORPHA:1606
HP:0000553	Abnormal uvea morphology	10630	PDPN	ORPHA:1606
HP:0000553	Abnormal uvea morphology	3339	HSPG2	ORPHA:1606
HP:0000553	Abnormal uvea morphology	10277	UBE4B	ORPHA:1606
HP:0000553	Abnormal uvea morphology	8514	KCNAB2	ORPHA:1606
HP:0000553	Abnormal uvea morphology	63976	PRDM16	ORPHA:1606
HP:0000553	Abnormal uvea morphology	54897	CASZ1	ORPHA:1606
HP:0000553	Abnormal uvea morphology	8546	AP3B1	OMIM:608233
HP:0000553	Abnormal uvea morphology	1130	LYST	ORPHA:352723
HP:0000553	Abnormal uvea morphology	1130	LYST	OMIM:214500
HP:0000553	Abnormal uvea morphology	4935	GPR143	ORPHA:54
HP:0000553	Abnormal uvea morphology	4935	GPR143	OMIM:300500
HP:0000553	Abnormal uvea morphology	89781	HPS4	OMIM:614073
HP:0000553	Abnormal uvea morphology	26258	BLOC1S6	OMIM:614171
HP:0000553	Abnormal uvea morphology	79803	HPS6	OMIM:614075
HP:0000553	Abnormal uvea morphology	84062	DTNBP1	OMIM:614076
HP:0000553	Abnormal uvea morphology	10908	PNPLA6	OMIM:215470
HP:0000553	Abnormal uvea morphology	10908	PNPLA6	ORPHA:1180
HP:0000553	Abnormal uvea morphology	89910	UBE3B	ORPHA:2707
HP:0000553	Abnormal uvea morphology	157680	VPS13B	ORPHA:193
HP:0000553	Abnormal uvea morphology	157680	VPS13B	OMIM:216550
HP:0000553	Abnormal uvea morphology	7439	BEST1	ORPHA:1243
HP:0000553	Abnormal uvea morphology	7439	BEST1	ORPHA:99000
HP:0000553	Abnormal uvea morphology	50939	IMPG2	ORPHA:99000
HP:0000553	Abnormal uvea morphology	3617	IMPG1	ORPHA:99000
HP:0000553	Abnormal uvea morphology	1969	EPHA2	OMIM:116600
HP:0000553	Abnormal uvea morphology	9653	HS2ST1	OMIM:619194
HP:0000553	Abnormal uvea morphology	55733	HHAT	ORPHA:1422
HP:0000553	Abnormal uvea morphology	55733	HHAT	OMIM:600092
HP:0000553	Abnormal uvea morphology	6786	STIM1	OMIM:612783
HP:0000553	Abnormal uvea morphology	406960	MIR184	OMIM:614303
HP:0000553	Abnormal uvea morphology	1282	COL4A1	OMIM:175780
HP:0000553	Abnormal uvea morphology	84942	WDR73	OMIM:251300
HP:0000553	Abnormal uvea morphology	4036	LRP2	OMIM:222448
HP:0000553	Abnormal uvea morphology	2260	FGFR1	OMIM:613001
HP:0000553	Abnormal uvea morphology	7399	USH2A	ORPHA:231178
HP:0000553	Abnormal uvea morphology	79955	PDZD7	ORPHA:231178
HP:0000553	Abnormal uvea morphology	4647	MYO7A	ORPHA:231178
HP:0000553	Abnormal uvea morphology	4647	MYO7A	ORPHA:231169
HP:0000553	Abnormal uvea morphology	25861	WHRN	ORPHA:231178
HP:0000553	Abnormal uvea morphology	84059	ADGRV1	ORPHA:231178
HP:0000553	Abnormal uvea morphology	7681	MKRN3	OMIM:176270
HP:0000553	Abnormal uvea morphology	3653	IPW	OMIM:176270
HP:0000553	Abnormal uvea morphology	791114	PWRN1	OMIM:176270
HP:0000553	Abnormal uvea morphology	100033413	SNORD116-1	OMIM:176270
HP:0000553	Abnormal uvea morphology	145624	PWAR1	OMIM:176270
HP:0000553	Abnormal uvea morphology	23742	NPAP1	OMIM:176270
HP:0000553	Abnormal uvea morphology	338433	SNORD115-1	OMIM:176270
HP:0000553	Abnormal uvea morphology	7401	CLRN1	ORPHA:231183
HP:0000553	Abnormal uvea morphology	22901	ARSG	ORPHA:231183
HP:0000553	Abnormal uvea morphology	4575	MT-TS2	ORPHA:231183
HP:0000553	Abnormal uvea morphology	3035	HARS1	ORPHA:231183
HP:0000553	Abnormal uvea morphology	84131	CEP78	ORPHA:231183
HP:0000553	Abnormal uvea morphology	4692	NDN	ORPHA:98754
HP:0000553	Abnormal uvea morphology	4692	NDN	ORPHA:177904
HP:0000553	Abnormal uvea morphology	4692	NDN	ORPHA:177901
HP:0000553	Abnormal uvea morphology	4692	NDN	ORPHA:177910
HP:0000553	Abnormal uvea morphology	284058	KANSL1	OMIM:610443
HP:0000553	Abnormal uvea morphology	64072	CDH23	ORPHA:231169
HP:0000553	Abnormal uvea morphology	10083	USH1C	ORPHA:231169
HP:0000553	Abnormal uvea morphology	124590	USH1G	ORPHA:231169
HP:0000553	Abnormal uvea morphology	83715	ESPN	ORPHA:231169
HP:0000553	Abnormal uvea morphology	10518	CIB2	ORPHA:231169
HP:0000553	Abnormal uvea morphology	65217	PCDH15	ORPHA:231169
HP:0000553	Abnormal uvea morphology	57194	ATP10A	ORPHA:411515
HP:0000553	Abnormal uvea morphology	4644	MYO5A	ORPHA:79476
HP:0000553	Abnormal uvea morphology	4644	MYO5A	ORPHA:79478
HP:0000553	Abnormal uvea morphology	5873	RAB27A	ORPHA:79477
HP:0000553	Abnormal uvea morphology	79083	MLPH	ORPHA:79478
HP:0000553	Abnormal uvea morphology	85378	TUBGCP6	OMIM:251270
HP:0000553	Abnormal uvea morphology	27229	TUBGCP4	OMIM:616335
HP:0000553	Abnormal uvea morphology	8449	DHX16	OMIM:618733
HP:0000553	Abnormal uvea morphology	3832	KIF11	OMIM:152950
HP:0000553	Abnormal uvea morphology	11235	PDCD10	ORPHA:221061
HP:0000553	Abnormal uvea morphology	83605	CCM2	ORPHA:221061
HP:0000553	Abnormal uvea morphology	889	KRIT1	ORPHA:221061
HP:0000553	Abnormal uvea morphology	23418	CRB1	OMIM:172870
HP:0000553	Abnormal uvea morphology	4653	MYOC	OMIM:137750
HP:0000553	Abnormal uvea morphology	4901	NRL	OMIM:613750
HP:0000553	Abnormal uvea morphology	3075	CFH	ORPHA:75376
HP:0000553	Abnormal uvea morphology	3426	CFI	ORPHA:75376
HP:0000553	Abnormal uvea morphology	7003	TEAD1	OMIM:108985
HP:0000553	Abnormal uvea morphology	57167	SALL4	ORPHA:233
HP:0000553	Abnormal uvea morphology	9935	MAFB	ORPHA:233
HP:0000553	Abnormal uvea morphology	1123	CHN1	ORPHA:233
HP:0000553	Abnormal uvea morphology	283652	SLC24A5	ORPHA:370097
HP:0000553	Abnormal uvea morphology	5080	PAX6	ORPHA:893
HP:0000553	Abnormal uvea morphology	5080	PAX6	ORPHA:137902
HP:0000553	Abnormal uvea morphology	627	BDNF	ORPHA:893
HP:0000553	Abnormal uvea morphology	7490	WT1	ORPHA:893
HP:0000553	Abnormal uvea morphology	5308	PITX2	ORPHA:782
HP:0000553	Abnormal uvea morphology	2296	FOXC1	ORPHA:782
HP:0000553	Abnormal uvea morphology	84314	TMEM107	ORPHA:564
HP:0000553	Abnormal uvea morphology	26123	TCTN3	ORPHA:564
HP:0000553	Abnormal uvea morphology	79867	TCTN2	ORPHA:564
HP:0000553	Abnormal uvea morphology	80776	B9D2	ORPHA:564
HP:0000553	Abnormal uvea morphology	79600	TCTN1	ORPHA:564
HP:0000553	Abnormal uvea morphology	57096	RPGRIP1	ORPHA:564
HP:0000553	Abnormal uvea morphology	79848	CSPP1	ORPHA:564
HP:0000553	Abnormal uvea morphology	80184	CEP290	ORPHA:564
HP:0000553	Abnormal uvea morphology	51259	TMEM216	ORPHA:564
HP:0000553	Abnormal uvea morphology	57545	CC2D2A	ORPHA:564
HP:0000553	Abnormal uvea morphology	79583	TMEM231	ORPHA:564
HP:0000553	Abnormal uvea morphology	91147	TMEM67	ORPHA:564
HP:0000553	Abnormal uvea morphology	79770	TXNDC15	ORPHA:564
HP:0000553	Abnormal uvea morphology	27077	B9D1	ORPHA:564
HP:0000553	Abnormal uvea morphology	23322	RPGRIP1L	ORPHA:564
HP:0000553	Abnormal uvea morphology	54903	MKS1	ORPHA:564
HP:0000553	Abnormal uvea morphology	65062	TMEM237	ORPHA:564
HP:0000553	Abnormal uvea morphology	6804	STX1A	ORPHA:904
HP:0000553	Abnormal uvea morphology	7461	CLIP2	ORPHA:904
HP:0000553	Abnormal uvea morphology	84277	DNAJC30	ORPHA:904
HP:0000553	Abnormal uvea morphology	8468	FKBP6	ORPHA:904
HP:0000553	Abnormal uvea morphology	5982	RFC2	ORPHA:904
HP:0000553	Abnormal uvea morphology	2969	GTF2I	ORPHA:904
HP:0000553	Abnormal uvea morphology	3984	LIMK1	ORPHA:904
HP:0000553	Abnormal uvea morphology	9569	GTF2IRD1	ORPHA:904
HP:0000553	Abnormal uvea morphology	155382	VPS37D	ORPHA:904
HP:0000553	Abnormal uvea morphology	155368	METTL27	ORPHA:904
HP:0000553	Abnormal uvea morphology	114049	BUD23	ORPHA:904
HP:0000553	Abnormal uvea morphology	7458	EIF4H	ORPHA:904
HP:0000553	Abnormal uvea morphology	84163	GTF2IRD2	ORPHA:904
HP:0000553	Abnormal uvea morphology	9275	BCL7B	ORPHA:904
HP:0000553	Abnormal uvea morphology	26608	TBL2	ORPHA:904
HP:0000553	Abnormal uvea morphology	653361	NCF1	ORPHA:904
HP:0000553	Abnormal uvea morphology	135886	TMEM270	ORPHA:904
HP:0000553	Abnormal uvea morphology	51085	MLXIPL	ORPHA:904
HP:0000553	Abnormal uvea morphology	9031	BAZ1B	ORPHA:904
HP:0000553	Abnormal uvea morphology	2006	ELN	ORPHA:904
HP:0000553	Abnormal uvea morphology	672	BRCA1	ORPHA:84
HP:0000553	Abnormal uvea morphology	10459	MAD2L2	ORPHA:84
HP:0000553	Abnormal uvea morphology	7516	XRCC2	ORPHA:84
HP:0000553	Abnormal uvea morphology	29089	UBE2T	ORPHA:84
HP:0000553	Abnormal uvea morphology	675	BRCA2	ORPHA:84
HP:0000553	Abnormal uvea morphology	55120	FANCL	ORPHA:84
HP:0000553	Abnormal uvea morphology	2177	FANCD2	ORPHA:84
HP:0000553	Abnormal uvea morphology	2175	FANCA	ORPHA:84
HP:0000553	Abnormal uvea morphology	2187	FANCB	ORPHA:84
HP:0000553	Abnormal uvea morphology	2176	FANCC	ORPHA:84
HP:0000553	Abnormal uvea morphology	2178	FANCE	ORPHA:84
HP:0000553	Abnormal uvea morphology	2188	FANCF	ORPHA:84
HP:0000553	Abnormal uvea morphology	2189	FANCG	ORPHA:84
HP:0000553	Abnormal uvea morphology	5888	RAD51	ORPHA:84
HP:0000553	Abnormal uvea morphology	5889	RAD51C	ORPHA:84
HP:0000553	Abnormal uvea morphology	55159	RFWD3	ORPHA:84
HP:0000553	Abnormal uvea morphology	83990	BRIP1	ORPHA:84
HP:0000553	Abnormal uvea morphology	57697	FANCM	ORPHA:84
HP:0000553	Abnormal uvea morphology	79728	PALB2	ORPHA:84
HP:0000553	Abnormal uvea morphology	84464	SLX4	ORPHA:84
HP:0000553	Abnormal uvea morphology	2072	ERCC4	ORPHA:84
HP:0000553	Abnormal uvea morphology	55215	FANCI	ORPHA:84
HP:0000553	Abnormal uvea morphology	4693	NDP	ORPHA:190
HP:0000553	Abnormal uvea morphology	2956	MSH6	OMIM:619097
HP:0000553	Abnormal uvea morphology	161742	SPRED1	ORPHA:137605
HP:0000553	Abnormal uvea morphology	4771	NF2	OMIM:101000
HP:0000553	Abnormal uvea morphology	4010	LMX1B	ORPHA:2614
HP:0000553	Abnormal uvea morphology	4010	LMX1B	OMIM:161200
HP:0000553	Abnormal uvea morphology	284252	KCTD1	OMIM:181270
HP:0000553	Abnormal uvea morphology	4016	LOXL1	OMIM:177650
HP:0000553	Abnormal uvea morphology	1656	DDX6	OMIM:618653
HP:0000553	Abnormal uvea morphology	29926	GMPPA	OMIM:615510
HP:0000553	Abnormal uvea morphology	5376	PMP22	ORPHA:90658
HP:0000553	Abnormal uvea morphology	79628	SH3TC2	ORPHA:99949
HP:0000553	Abnormal uvea morphology	25942	SIN3A	OMIM:613406
HP:0000553	Abnormal uvea morphology	8086	AAAS	OMIM:231550
HP:0000553	Abnormal uvea morphology	80781	COL18A1	OMIM:267750
HP:0000553	Abnormal uvea morphology	54507	ADAMTSL4	OMIM:225200
HP:0000553	Abnormal uvea morphology	80036	TRPM3	OMIM:620253
HP:0000553	Abnormal uvea morphology	6909	TBX2	OMIM:618223
HP:0000553	Abnormal uvea morphology	5130	PCYT1A	ORPHA:85167
HP:0000553	Abnormal uvea morphology	387	RHOA	OMIM:618727
HP:0000553	Abnormal uvea morphology	10586	MAB21L2	OMIM:615877
HP:0000553	Abnormal uvea morphology	64131	XYLT1	OMIM:264800
HP:0000553	Abnormal uvea morphology	64132	XYLT2	OMIM:264800
HP:0000553	Abnormal uvea morphology	368	ABCC6	OMIM:264800
HP:0000553	Abnormal uvea morphology	368	ABCC6	ORPHA:51608
HP:0000553	Abnormal uvea morphology	5167	ENPP1	ORPHA:51608
HP:0000553	Abnormal uvea morphology	7867	MAPKAPK3	OMIM:617111
HP:0000553	Abnormal uvea morphology	189	AGXT	OMIM:259900
HP:0000553	Abnormal uvea morphology	7123	CLEC3B	OMIM:619977
HP:0000553	Abnormal uvea morphology	2201	FBN2	OMIM:616118
HP:0000553	Abnormal uvea morphology	10516	FBLN5	OMIM:608895
HP:0000553	Abnormal uvea morphology	348	APOE	OMIM:603075
HP:0000553	Abnormal uvea morphology	83872	HMCN1	OMIM:603075
HP:0000553	Abnormal uvea morphology	3078	CFHR1	OMIM:603075
HP:0000553	Abnormal uvea morphology	10878	CFHR3	OMIM:603075
HP:0000553	Abnormal uvea morphology	2192	FBLN1	ORPHA:404451
HP:0000553	Abnormal uvea morphology	3166	HMX1	OMIM:612109
HP:0000553	Abnormal uvea morphology	92154	MTSS2	OMIM:620086
HP:0000553	Abnormal uvea morphology	8314	BAP1	ORPHA:39044
HP:0000553	Abnormal uvea morphology	57105	CYSLTR2	ORPHA:39044
HP:0000553	Abnormal uvea morphology	23451	SF3B1	ORPHA:39044
HP:0000553	Abnormal uvea morphology	144811	LACC1	ORPHA:85414
HP:0000553	Abnormal uvea morphology	4282	MIF	ORPHA:85414
HP:0000553	Abnormal uvea morphology	3569	IL6	ORPHA:85414
HP:0000553	Abnormal uvea morphology	7128	TNFAIP3	OMIM:616744
HP:0000553	Abnormal uvea morphology	3106	HLA-B	OMIM:106300
HP:0000553	Abnormal uvea morphology	330	BIRC3	ORPHA:52417
HP:0000553	Abnormal uvea morphology	10892	MALT1	ORPHA:52417
HP:0000553	Abnormal uvea morphology	27086	FOXP1	ORPHA:52417
HP:0000553	Abnormal uvea morphology	3492	IGH	ORPHA:52417
HP:0000553	Abnormal uvea morphology	8915	BCL10	ORPHA:52417
HP:0000553	Abnormal uvea morphology	8517	IKBKG	OMIM:301081
HP:0000553	Abnormal uvea morphology	63915	BLOC1S5	OMIM:619172
HP:0000553	Abnormal uvea morphology	11234	HPS5	OMIM:614074
HP:0000553	Abnormal uvea morphology	83938	LRMDA	OMIM:615179
HP:0000553	Abnormal uvea morphology	11152	WDR45	OMIM:615179
HP:0000553	Abnormal uvea morphology	5961	PRPH2	OMIM:169150
HP:0000553	Abnormal uvea morphology	2670	GFAP	OMIM:203450
HP:0000553	Abnormal uvea morphology	5950	RBP4	OMIM:616428
HP:0000553	Abnormal uvea morphology	4796	TONSL	ORPHA:93357
HP:0000553	Abnormal uvea morphology	94	ACVRL1	OMIM:600376
HP:0000553	Abnormal uvea morphology	65082	VPS33A	OMIM:617303
HP:0000553	Abnormal uvea morphology	6492	SIM1	ORPHA:398079
HP:0000553	Abnormal uvea morphology	54551	MAGEL2	ORPHA:398069
HP:0000553	Abnormal uvea morphology	3458	IFNG	ORPHA:805
HP:0000553	Abnormal uvea morphology	7248	TSC1	ORPHA:805
HP:0000553	Abnormal uvea morphology	7249	TSC2	ORPHA:805
HP:0000553	Abnormal uvea morphology	1638	DCT	OMIM:619165
HP:0000553	Abnormal uvea morphology	10166	SLC25A15	ORPHA:415
HP:0000553	Abnormal uvea morphology	125988	MICOS13	OMIM:618329
HP:0000553	Abnormal uvea morphology	2200	FBN1	OMIM:608328
HP:0000553	Abnormal uvea morphology	2200	FBN1	ORPHA:284979
HP:0000553	Abnormal uvea morphology	27151	CPAMD8	OMIM:617319
HP:0000553	Abnormal uvea morphology	91851	CHRDL1	OMIM:309300
HP:0000553	Abnormal uvea morphology	170691	ADAMTS17	OMIM:613195
HP:0000553	Abnormal uvea morphology	4053	LTBP2	OMIM:251750
HP:0000553	Abnormal uvea morphology	285440	CYP4V2	ORPHA:41751
HP:0000553	Abnormal uvea morphology	170692	ADAMTS18	OMIM:615458
HP:0000553	Abnormal uvea morphology	1121	CHM	OMIM:303100
HP:0000553	Abnormal uvea morphology	6102	RP2	OMIM:312600
HP:0000553	Abnormal uvea morphology	1804	DPP6	OMIM:616311
HP:0000553	Abnormal uvea morphology	6935	ZEB1	ORPHA:98973
HP:0000553	Abnormal uvea morphology	30813	VSX1	ORPHA:98973
HP:0000553	Abnormal uvea morphology	58495	OVOL2	ORPHA:98973
HP:0000553	Abnormal uvea morphology	79977	GRHL2	ORPHA:98973
HP:0000553	Abnormal uvea morphology	1296	COL8A2	ORPHA:98973
HP:0000553	Abnormal uvea morphology	114902	C1QTNF5	OMIM:605670
HP:0000553	Abnormal uvea morphology	5456	POU3F4	ORPHA:1435
HP:0000553	Abnormal uvea morphology	4942	OAT	ORPHA:414
HP:0000553	Abnormal uvea morphology	59	ACTA2	OMIM:611788
HP:0000554	Uveitis	114548	NLRP3	ORPHA:575
HP:0000554	Uveitis	114548	NLRP3	ORPHA:1451
HP:0000554	Uveitis	114548	NLRP3	OMIM:607115
HP:0000554	Uveitis	114548	NLRP3	OMIM:120100
HP:0000554	Uveitis	220202	ATOH7	OMIM:221900
HP:0000554	Uveitis	355	FAS	ORPHA:3261
HP:0000554	Uveitis	356	FASLG	ORPHA:3261
HP:0000554	Uveitis	5580	PRKCD	ORPHA:3261
HP:0000554	Uveitis	843	CASP10	ORPHA:3261
HP:0000554	Uveitis	10125	RASGRP1	ORPHA:3261
HP:0000554	Uveitis	51360	MBTPS2	ORPHA:2273
HP:0000554	Uveitis	2859	GPR35	ORPHA:171
HP:0000554	Uveitis	10507	SEMA4D	ORPHA:171
HP:0000554	Uveitis	4485	MST1	ORPHA:171
HP:0000554	Uveitis	6925	TCF4	ORPHA:171
HP:0000554	Uveitis	56244	BTNL2	OMIM:612387
HP:0000554	Uveitis	56244	BTNL2	ORPHA:797
HP:0000554	Uveitis	987	LRBA	OMIM:614700
HP:0000554	Uveitis	1776	DNASE1L3	ORPHA:36412
HP:0000554	Uveitis	1161	ERCC8	ORPHA:90321
HP:0000554	Uveitis	1161	ERCC8	ORPHA:90322
HP:0000554	Uveitis	2072	ERCC4	ORPHA:90321
HP:0000554	Uveitis	2074	ERCC6	ORPHA:90321
HP:0000554	Uveitis	2074	ERCC6	ORPHA:90322
HP:0000554	Uveitis	2067	ERCC1	ORPHA:90322
HP:0000554	Uveitis	641	BLM	ORPHA:125
HP:0000554	Uveitis	7086	TKT	OMIM:617044
HP:0000554	Uveitis	7086	TKT	ORPHA:488618
HP:0000554	Uveitis	726	CAPN5	OMIM:193235
HP:0000554	Uveitis	939	CD27	OMIM:615122
HP:0000554	Uveitis	22861	NLRP1	OMIM:617388
HP:0000554	Uveitis	3662	IRF4	ORPHA:3452
HP:0000554	Uveitis	7132	TNFRSF1A	ORPHA:32960
HP:0000554	Uveitis	2697	GJA1	OMIM:164200
HP:0000554	Uveitis	10273	STUB1	ORPHA:412057
HP:0000554	Uveitis	6775	STAT4	ORPHA:85408
HP:0000554	Uveitis	3560	IL2RB	ORPHA:85408
HP:0000554	Uveitis	79722	ANKRD55	ORPHA:85408
HP:0000554	Uveitis	26191	PTPN22	ORPHA:85408
HP:0000554	Uveitis	919	CD247	ORPHA:85408
HP:0000554	Uveitis	3559	IL2RA	ORPHA:85408
HP:0000554	Uveitis	5771	PTPN2	ORPHA:85408
HP:0000554	Uveitis	326	AIRE	OMIM:240300
HP:0000554	Uveitis	64127	NOD2	OMIM:186580
HP:0000554	Uveitis	8517	IKBKG	OMIM:301081
HP:0000554	Uveitis	144811	LACC1	ORPHA:85414
HP:0000554	Uveitis	4282	MIF	ORPHA:85414
HP:0000554	Uveitis	3123	HLA-DRB1	ORPHA:85414
HP:0000554	Uveitis	3569	IL6	ORPHA:85414
HP:0000554	Uveitis	7128	TNFAIP3	OMIM:616744
HP:0000554	Uveitis	3106	HLA-B	OMIM:106300
HP:0000554	Uveitis	330	BIRC3	ORPHA:52417
HP:0000554	Uveitis	10892	MALT1	ORPHA:52417
HP:0000554	Uveitis	27086	FOXP1	ORPHA:52417
HP:0000554	Uveitis	3492	IGH	ORPHA:52417
HP:0000554	Uveitis	8915	BCL10	ORPHA:52417
HP:0000555	Leukocoria	220202	ATOH7	OMIM:221900
HP:0000555	Leukocoria	220202	ATOH7	ORPHA:91495
HP:0000555	Leukocoria	26277	TINF2	OMIM:268130
HP:0000555	Leukocoria	4693	NDP	OMIM:310600
HP:0000555	Leukocoria	4693	NDP	ORPHA:91495
HP:0000555	Leukocoria	8322	FZD4	ORPHA:91495
HP:0000555	Leukocoria	5925	RB1	OMIM:180200
HP:0000555	Leukocoria	2767	GNA11	ORPHA:1556
HP:0000555	Leukocoria	151188	ARL6IP6	ORPHA:1556
HP:0000556	Retinal dystrophy	65217	PCDH15	OMIM:601067
HP:0000556	Retinal dystrophy	65217	PCDH15	OMIM:602083
HP:0000556	Retinal dystrophy	64072	CDH23	OMIM:601067
HP:0000556	Retinal dystrophy	64072	CDH23	OMIM:601386
HP:0000556	Retinal dystrophy	261734	NPHP4	OMIM:606996
HP:0000556	Retinal dystrophy	25970	SH2B1	ORPHA:261222
HP:0000556	Retinal dystrophy	91452	ACBD5	OMIM:618863
HP:0000556	Retinal dystrophy	5949	RBP3	OMIM:615233
HP:0000556	Retinal dystrophy	5949	RBP3	OMIM:268000
HP:0000556	Retinal dystrophy	583	BBS2	OMIM:616562
HP:0000556	Retinal dystrophy	583	BBS2	OMIM:615981
HP:0000556	Retinal dystrophy	4598	MVK	OMIM:260920
HP:0000556	Retinal dystrophy	2677	GGCX	ORPHA:436274
HP:0000556	Retinal dystrophy	130557	ZNF513	OMIM:613617
HP:0000556	Retinal dystrophy	6094	ROM1	OMIM:608133
HP:0000556	Retinal dystrophy	6094	ROM1	OMIM:268000
HP:0000556	Retinal dystrophy	91147	TMEM67	OMIM:602152
HP:0000556	Retinal dystrophy	91147	TMEM67	ORPHA:140976
HP:0000556	Retinal dystrophy	91147	TMEM67	OMIM:615991
HP:0000556	Retinal dystrophy	23126	POGZ	ORPHA:468678
HP:0000556	Retinal dystrophy	23126	POGZ	OMIM:616364
HP:0000556	Retinal dystrophy	4535	MT-ND1	ORPHA:255210
HP:0000556	Retinal dystrophy	4536	MT-ND2	ORPHA:255210
HP:0000556	Retinal dystrophy	4537	MT-ND3	ORPHA:255210
HP:0000556	Retinal dystrophy	4538	MT-ND4	ORPHA:255210
HP:0000556	Retinal dystrophy	4567	MT-TL1	ORPHA:255210
HP:0000556	Retinal dystrophy	4578	MT-TW	ORPHA:255210
HP:0000556	Retinal dystrophy	4577	MT-TV	ORPHA:255210
HP:0000556	Retinal dystrophy	4508	MT-ATP6	ORPHA:255210
HP:0000556	Retinal dystrophy	4508	MT-ATP6	OMIM:551500
HP:0000556	Retinal dystrophy	4508	MT-ATP6	ORPHA:644
HP:0000556	Retinal dystrophy	4540	MT-ND5	ORPHA:255210
HP:0000556	Retinal dystrophy	4541	MT-ND6	ORPHA:255210
HP:0000556	Retinal dystrophy	4566	MT-TK	ORPHA:255210
HP:0000556	Retinal dystrophy	6311	ATXN2	OMIM:183090
HP:0000556	Retinal dystrophy	24148	PRPF6	OMIM:613983
HP:0000556	Retinal dystrophy	92840	REEP6	OMIM:617304
HP:0000556	Retinal dystrophy	10461	MERTK	OMIM:613862
HP:0000556	Retinal dystrophy	79947	DHDDS	OMIM:613861
HP:0000556	Retinal dystrophy	9128	PRPF4	OMIM:615922
HP:0000556	Retinal dystrophy	57545	CC2D2A	OMIM:619845
HP:0000556	Retinal dystrophy	768206	PRCD	OMIM:610599
HP:0000556	Retinal dystrophy	84140	FAM161A	OMIM:606068
HP:0000556	Retinal dystrophy	23020	SNRNP200	OMIM:610359
HP:0000556	Retinal dystrophy	7439	BEST1	OMIM:613194
HP:0000556	Retinal dystrophy	6103	RPGR	OMIM:300455
HP:0000556	Retinal dystrophy	6103	RPGR	ORPHA:244
HP:0000556	Retinal dystrophy	6103	RPGR	OMIM:300029
HP:0000556	Retinal dystrophy	79797	ZNF408	OMIM:616469
HP:0000556	Retinal dystrophy	4901	NRL	OMIM:613750
HP:0000556	Retinal dystrophy	1259	CNGA1	OMIM:613756
HP:0000556	Retinal dystrophy	1259	CNGA1	OMIM:268000
HP:0000556	Retinal dystrophy	51109	RDH11	OMIM:616108
HP:0000556	Retinal dystrophy	51109	RDH11	ORPHA:436245
HP:0000556	Retinal dystrophy	84100	ARL6	OMIM:209900
HP:0000556	Retinal dystrophy	84100	ARL6	OMIM:600151
HP:0000556	Retinal dystrophy	84100	ARL6	OMIM:613575
HP:0000556	Retinal dystrophy	84100	ARL6	OMIM:268000
HP:0000556	Retinal dystrophy	79140	CCDC28B	OMIM:209900
HP:0000556	Retinal dystrophy	582	BBS1	OMIM:209900
HP:0000556	Retinal dystrophy	1509	CTSD	OMIM:610127
HP:0000556	Retinal dystrophy	6100	RP9	OMIM:180104
HP:0000556	Retinal dystrophy	3614	IMPDH1	OMIM:180105
HP:0000556	Retinal dystrophy	26090	ABHD12	OMIM:612674
HP:0000556	Retinal dystrophy	10352	WARS2	ORPHA:572798
HP:0000556	Retinal dystrophy	10352	WARS2	OMIM:617710
HP:0000556	Retinal dystrophy	55012	PPP2R3C	OMIM:618419
HP:0000556	Retinal dystrophy	1201	CLN3	OMIM:204200
HP:0000556	Retinal dystrophy	1258	CNGB1	OMIM:613767
HP:0000556	Retinal dystrophy	5995	RGR	OMIM:613769
HP:0000556	Retinal dystrophy	5373	PMM2	OMIM:212065
HP:0000556	Retinal dystrophy	5373	PMM2	ORPHA:79318
HP:0000556	Retinal dystrophy	491	ATP2B2	OMIM:601386
HP:0000556	Retinal dystrophy	1798	DPAGT1	ORPHA:86309
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:614180
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:268000
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:276902
HP:0000556	Retinal dystrophy	10594	PRPF8	OMIM:600059
HP:0000556	Retinal dystrophy	25794	FSCN2	OMIM:607921
HP:0000556	Retinal dystrophy	4117	MAK	OMIM:614181
HP:0000556	Retinal dystrophy	5190	PEX6	OMIM:614863
HP:0000556	Retinal dystrophy	5190	PEX6	ORPHA:772
HP:0000556	Retinal dystrophy	5828	PEX2	OMIM:614866
HP:0000556	Retinal dystrophy	5828	PEX2	OMIM:614867
HP:0000556	Retinal dystrophy	5828	PEX2	ORPHA:772
HP:0000556	Retinal dystrophy	3098	HK1	OMIM:618547
HP:0000556	Retinal dystrophy	4191	MDH2	OMIM:617339
HP:0000556	Retinal dystrophy	6134	RPL10	ORPHA:459070
HP:0000556	Retinal dystrophy	6134	RPL10	OMIM:300998
HP:0000556	Retinal dystrophy	10518	CIB2	OMIM:614869
HP:0000556	Retinal dystrophy	6101	RP1	OMIM:180100
HP:0000556	Retinal dystrophy	124590	USH1G	OMIM:606943
HP:0000556	Retinal dystrophy	402	ARL2	OMIM:619082
HP:0000556	Retinal dystrophy	92211	CDHR1	OMIM:613660
HP:0000556	Retinal dystrophy	3420	IDH3B	OMIM:612572
HP:0000556	Retinal dystrophy	57709	SLC7A14	OMIM:615725
HP:0000556	Retinal dystrophy	388939	PCARE	OMIM:613428
HP:0000556	Retinal dystrophy	5191	PEX7	OMIM:614879
HP:0000556	Retinal dystrophy	5191	PEX7	OMIM:266500
HP:0000556	Retinal dystrophy	80025	PANK2	OMIM:607236
HP:0000556	Retinal dystrophy	80025	PANK2	ORPHA:216866
HP:0000556	Retinal dystrophy	7355	SLC35A2	OMIM:300896
HP:0000556	Retinal dystrophy	9319	TRIP13	OMIM:617598
HP:0000556	Retinal dystrophy	50484	RRM2B	OMIM:268315
HP:0000556	Retinal dystrophy	64218	SEMA4A	OMIM:610282
HP:0000556	Retinal dystrophy	64218	SEMA4A	OMIM:610283
HP:0000556	Retinal dystrophy	7867	MAPKAPK3	OMIM:617111
HP:0000556	Retinal dystrophy	6121	RPE65	OMIM:613794
HP:0000556	Retinal dystrophy	10002	NR2E3	OMIM:611131
HP:0000556	Retinal dystrophy	2625	GATA3	ORPHA:2237
HP:0000556	Retinal dystrophy	80173	IFT74	OMIM:617119
HP:0000556	Retinal dystrophy	29929	ALG6	ORPHA:79320
HP:0000556	Retinal dystrophy	25981	DNAH1	ORPHA:244
HP:0000556	Retinal dystrophy	115948	ODAD3	ORPHA:244
HP:0000556	Retinal dystrophy	54768	HYDIN	ORPHA:244
HP:0000556	Retinal dystrophy	352909	DNAAF3	ORPHA:244
HP:0000556	Retinal dystrophy	27148	STK36	ORPHA:244
HP:0000556	Retinal dystrophy	51314	NME8	ORPHA:244
HP:0000556	Retinal dystrophy	92749	DRC1	ORPHA:244
HP:0000556	Retinal dystrophy	54970	TTC12	ORPHA:244
HP:0000556	Retinal dystrophy	152110	NEK10	ORPHA:244
HP:0000556	Retinal dystrophy	8481	OFD1	ORPHA:244
HP:0000556	Retinal dystrophy	8481	OFD1	OMIM:300424
HP:0000556	Retinal dystrophy	8481	OFD1	OMIM:300804
HP:0000556	Retinal dystrophy	2302	FOXJ1	ORPHA:244
HP:0000556	Retinal dystrophy	221421	RSPH9	ORPHA:244
HP:0000556	Retinal dystrophy	85478	CCDC65	ORPHA:244
HP:0000556	Retinal dystrophy	55036	CCDC40	ORPHA:244
HP:0000556	Retinal dystrophy	51364	ZMYND10	ORPHA:244
HP:0000556	Retinal dystrophy	64446	DNAI2	ORPHA:244
HP:0000556	Retinal dystrophy	6674	SPAG1	ORPHA:244
HP:0000556	Retinal dystrophy	83544	DNAL1	ORPHA:244
HP:0000556	Retinal dystrophy	89765	RSPH1	ORPHA:244
HP:0000556	Retinal dystrophy	83538	ODAD4	ORPHA:244
HP:0000556	Retinal dystrophy	200373	CFAP221	ORPHA:244
HP:0000556	Retinal dystrophy	374407	DNAJB13	ORPHA:244
HP:0000556	Retinal dystrophy	55172	DNAAF2	ORPHA:244
HP:0000556	Retinal dystrophy	161582	DNAAF4	ORPHA:244
HP:0000556	Retinal dystrophy	2622	GAS8	ORPHA:244
HP:0000556	Retinal dystrophy	23639	DNAAF11	ORPHA:244
HP:0000556	Retinal dystrophy	27019	DNAI1	ORPHA:244
HP:0000556	Retinal dystrophy	345895	RSPH4A	ORPHA:244
HP:0000556	Retinal dystrophy	54919	DNAAF5	ORPHA:244
HP:0000556	Retinal dystrophy	388389	CCDC103	ORPHA:244
HP:0000556	Retinal dystrophy	93233	ODAD1	ORPHA:244
HP:0000556	Retinal dystrophy	55130	ODAD2	ORPHA:244
HP:0000556	Retinal dystrophy	1767	DNAH5	ORPHA:244
HP:0000556	Retinal dystrophy	83861	RSPH3	ORPHA:244
HP:0000556	Retinal dystrophy	345643	MCIDAS	ORPHA:244
HP:0000556	Retinal dystrophy	56683	CFAP298	ORPHA:244
HP:0000556	Retinal dystrophy	79925	SPEF2	ORPHA:244
HP:0000556	Retinal dystrophy	10309	CCNO	ORPHA:244
HP:0000556	Retinal dystrophy	115399	LRRC56	ORPHA:244
HP:0000556	Retinal dystrophy	139212	DNAAF6	ORPHA:244
HP:0000556	Retinal dystrophy	123872	DNAAF1	ORPHA:244
HP:0000556	Retinal dystrophy	85016	CFAP300	ORPHA:244
HP:0000556	Retinal dystrophy	339829	CCDC39	ORPHA:244
HP:0000556	Retinal dystrophy	8701	DNAH11	ORPHA:244
HP:0000556	Retinal dystrophy	1770	DNAH9	ORPHA:244
HP:0000556	Retinal dystrophy	246176	GAS2L2	ORPHA:244
HP:0000556	Retinal dystrophy	3329	HSPD1	ORPHA:100994
HP:0000556	Retinal dystrophy	3798	KIF5A	ORPHA:100991
HP:0000556	Retinal dystrophy	26160	IFT172	OMIM:616394
HP:0000556	Retinal dystrophy	26160	IFT172	OMIM:619471
HP:0000556	Retinal dystrophy	9742	IFT140	OMIM:266920
HP:0000556	Retinal dystrophy	25861	WHRN	OMIM:611383
HP:0000556	Retinal dystrophy	55212	BBS7	OMIM:615984
HP:0000556	Retinal dystrophy	123016	TTC8	OMIM:615985
HP:0000556	Retinal dystrophy	123016	TTC8	OMIM:613464
HP:0000556	Retinal dystrophy	585	BBS4	OMIM:615982
HP:0000556	Retinal dystrophy	129880	BBS5	OMIM:615983
HP:0000556	Retinal dystrophy	166379	BBS12	OMIM:615989
HP:0000556	Retinal dystrophy	27241	BBS9	OMIM:615986
HP:0000556	Retinal dystrophy	79738	BBS10	OMIM:615987
HP:0000556	Retinal dystrophy	7287	TULP1	OMIM:600132
HP:0000556	Retinal dystrophy	26121	PRPF31	OMIM:600138
HP:0000556	Retinal dystrophy	196	AHR	OMIM:618345
HP:0000556	Retinal dystrophy	80184	CEP290	OMIM:615991
HP:0000556	Retinal dystrophy	80184	CEP290	OMIM:610188
HP:0000556	Retinal dystrophy	80184	CEP290	OMIM:610189
HP:0000556	Retinal dystrophy	9785	DHX38	OMIM:618220
HP:0000556	Retinal dystrophy	54903	MKS1	OMIM:615990
HP:0000556	Retinal dystrophy	5193	PEX12	OMIM:266510
HP:0000556	Retinal dystrophy	5193	PEX12	ORPHA:772
HP:0000556	Retinal dystrophy	92482	BBIP1	OMIM:615995
HP:0000556	Retinal dystrophy	89891	DYNC2I2	OMIM:615633
HP:0000556	Retinal dystrophy	11020	IFT27	OMIM:615996
HP:0000556	Retinal dystrophy	10806	SDCCAG8	OMIM:615993
HP:0000556	Retinal dystrophy	23600	AMACR	OMIM:614307
HP:0000556	Retinal dystrophy	9227	LRAT	OMIM:268000
HP:0000556	Retinal dystrophy	9227	LRAT	OMIM:613341
HP:0000556	Retinal dystrophy	5148	PDE6G	OMIM:268000
HP:0000556	Retinal dystrophy	5148	PDE6G	OMIM:613582
HP:0000556	Retinal dystrophy	5264	PHYH	OMIM:266500
HP:0000556	Retinal dystrophy	50939	IMPG2	OMIM:613581
HP:0000556	Retinal dystrophy	60509	AGBL5	OMIM:617023
HP:0000556	Retinal dystrophy	443	ASPA	ORPHA:314918
HP:0000556	Retinal dystrophy	346007	EYS	OMIM:602772
HP:0000556	Retinal dystrophy	4694	NDUFA1	OMIM:301020
HP:0000556	Retinal dystrophy	27235	COQ2	OMIM:607426
HP:0000556	Retinal dystrophy	28982	FLVCR1	ORPHA:88628
HP:0000556	Retinal dystrophy	28982	FLVCR1	OMIM:609033
HP:0000556	Retinal dystrophy	4704	NDUFA9	OMIM:618247
HP:0000556	Retinal dystrophy	5631	PRPS1	OMIM:311070
HP:0000556	Retinal dystrophy	8120	AP3B2	OMIM:617276
HP:0000556	Retinal dystrophy	55975	KLHL7	OMIM:612943
HP:0000556	Retinal dystrophy	55975	KLHL7	OMIM:617055
HP:0000556	Retinal dystrophy	26146	TRAF3IP1	OMIM:616629
HP:0000556	Retinal dystrophy	2232	FDXR	OMIM:617717
HP:0000556	Retinal dystrophy	6102	RP2	OMIM:312600
HP:0000556	Retinal dystrophy	4647	MYO7A	OMIM:276900
HP:0000556	Retinal dystrophy	10083	USH1C	OMIM:276900
HP:0000556	Retinal dystrophy	10083	USH1C	OMIM:276904
HP:0000556	Retinal dystrophy	4547	MTTP	ORPHA:14
HP:0000556	Retinal dystrophy	7399	USH2A	OMIM:276901
HP:0000556	Retinal dystrophy	7399	USH2A	OMIM:613809
HP:0000556	Retinal dystrophy	79955	PDZD7	OMIM:276901
HP:0000556	Retinal dystrophy	79955	PDZD7	OMIM:605472
HP:0000556	Retinal dystrophy	23418	CRB1	OMIM:600105
HP:0000556	Retinal dystrophy	55857	KIZ	OMIM:615780
HP:0000556	Retinal dystrophy	149461	CLDN19	OMIM:248190
HP:0000556	Retinal dystrophy	8195	MKKS	OMIM:605231
HP:0000556	Retinal dystrophy	3028	HSD17B10	ORPHA:391428
HP:0000556	Retinal dystrophy	84059	ADGRV1	OMIM:605472
HP:0000556	Retinal dystrophy	51095	TRNT1	OMIM:616084
HP:0000556	Retinal dystrophy	23568	ARL2BP	OMIM:615434
HP:0000556	Retinal dystrophy	9894	TELO2	ORPHA:488642
HP:0000556	Retinal dystrophy	338	APOB	OMIM:615558
HP:0000556	Retinal dystrophy	5145	PDE6A	OMIM:613810
HP:0000556	Retinal dystrophy	10283	CWC27	OMIM:250410
HP:0000556	Retinal dystrophy	10283	CWC27	ORPHA:166035
HP:0000556	Retinal dystrophy	9129	PRPF3	OMIM:601414
HP:0000556	Retinal dystrophy	5189	PEX1	OMIM:601539
HP:0000556	Retinal dystrophy	5189	PEX1	ORPHA:772
HP:0000556	Retinal dystrophy	4751	NEK2	OMIM:615565
HP:0000556	Retinal dystrophy	9371	KIF3B	OMIM:618955
HP:0000556	Retinal dystrophy	617	BCS1L	OMIM:124000
HP:0000556	Retinal dystrophy	2979	GUCA1B	OMIM:613827
HP:0000556	Retinal dystrophy	9657	IQCB1	OMIM:609254
HP:0000556	Retinal dystrophy	55670	PEX26	ORPHA:772
HP:0000556	Retinal dystrophy	5824	PEX19	ORPHA:772
HP:0000556	Retinal dystrophy	8504	PEX3	ORPHA:772
HP:0000556	Retinal dystrophy	9409	PEX16	ORPHA:772
HP:0000556	Retinal dystrophy	8799	PEX11B	ORPHA:772
HP:0000556	Retinal dystrophy	5830	PEX5	ORPHA:772
HP:0000556	Retinal dystrophy	5194	PEX13	ORPHA:772
HP:0000556	Retinal dystrophy	5195	PEX14	ORPHA:772
HP:0000556	Retinal dystrophy	5192	PEX10	ORPHA:772
HP:0000556	Retinal dystrophy	51	ACOX1	OMIM:264470
HP:0000556	Retinal dystrophy	403	ARL3	OMIM:618161
HP:0000556	Retinal dystrophy	403	ARL3	OMIM:618173
HP:0000556	Retinal dystrophy	10210	TOPORS	OMIM:609923
HP:0000556	Retinal dystrophy	138050	HGSNAT	OMIM:616544
HP:0000556	Retinal dystrophy	138050	HGSNAT	OMIM:252930
HP:0000556	Retinal dystrophy	57728	WDR19	OMIM:616307
HP:0000556	Retinal dystrophy	57728	WDR19	OMIM:614378
HP:0000556	Retinal dystrophy	253827	MSRB3	OMIM:613718
HP:0000556	Retinal dystrophy	79644	SRD5A3	ORPHA:324737
HP:0000556	Retinal dystrophy	23404	EXOSC2	OMIM:617763
HP:0000556	Retinal dystrophy	375298	CERKL	OMIM:608380
HP:0000556	Retinal dystrophy	7840	ALMS1	ORPHA:64
HP:0000556	Retinal dystrophy	7840	ALMS1	OMIM:203800
HP:0000556	Retinal dystrophy	24	ABCA4	OMIM:604116
HP:0000556	Retinal dystrophy	5146	PDE6C	OMIM:613093
HP:0000556	Retinal dystrophy	83394	PITPNM3	OMIM:600977
HP:0000556	Retinal dystrophy	22999	RIMS1	OMIM:603649
HP:0000556	Retinal dystrophy	84839	RAX2	OMIM:610381
HP:0000556	Retinal dystrophy	9364	RAB28	OMIM:615374
HP:0000556	Retinal dystrophy	282809	POC1B	OMIM:615973
HP:0000556	Retinal dystrophy	10560	SLC19A2	OMIM:249270
HP:0000556	Retinal dystrophy	157657	CFAP418	OMIM:614500
HP:0000556	Retinal dystrophy	157657	CFAP418	OMIM:617406
HP:0000556	Retinal dystrophy	54585	LZTFL1	OMIM:615994
HP:0000556	Retinal dystrophy	57096	RPGRIP1	OMIM:608194
HP:0000556	Retinal dystrophy	26504	CNNM4	OMIM:217080
HP:0000556	Retinal dystrophy	755	CFAP410	OMIM:602271
HP:0000556	Retinal dystrophy	2978	GUCA1A	OMIM:602093
HP:0000556	Retinal dystrophy	3166	HMX1	OMIM:612109
HP:0000556	Retinal dystrophy	1406	CRX	OMIM:120970
HP:0000556	Retinal dystrophy	23746	AIPL1	OMIM:604393
HP:0000556	Retinal dystrophy	6314	ATXN7	ORPHA:94147
HP:0000556	Retinal dystrophy	3000	GUCY2D	OMIM:601777
HP:0000556	Retinal dystrophy	5130	PCYT1A	ORPHA:85167
HP:0000556	Retinal dystrophy	5130	PCYT1A	OMIM:608940
HP:0000556	Retinal dystrophy	23093	TTLL5	OMIM:615860
HP:0000556	Retinal dystrophy	10464	PIBF1	OMIM:617767
HP:0000556	Retinal dystrophy	8754	ADAM9	OMIM:612775
HP:0000556	Retinal dystrophy	169522	KCNV2	OMIM:610356
HP:0000556	Retinal dystrophy	8842	PROM1	OMIM:612657
HP:0000556	Retinal dystrophy	55768	NGLY1	ORPHA:404454
HP:0000556	Retinal dystrophy	80216	ALPK1	OMIM:614979
HP:0000556	Retinal dystrophy	27183	VPS4A	OMIM:619273
HP:0000556	Retinal dystrophy	55213	RCBTB1	OMIM:617175
HP:0000556	Retinal dystrophy	134218	DNAJC21	OMIM:617052
HP:0000556	Retinal dystrophy	1182	CLCN3	OMIM:619512
HP:0000556	Retinal dystrophy	4750	NEK1	OMIM:263520
HP:0000556	Retinal dystrophy	7737	RNF113A	OMIM:300953
HP:0000556	Retinal dystrophy	1161	ERCC8	ORPHA:90324
HP:0000556	Retinal dystrophy	2074	ERCC6	ORPHA:90324
HP:0000556	Retinal dystrophy	95681	CEP41	OMIM:614464
HP:0000556	Retinal dystrophy	95681	CEP41	ORPHA:220493
HP:0000556	Retinal dystrophy	51524	TMEM138	OMIM:614465
HP:0000556	Retinal dystrophy	51524	TMEM138	ORPHA:2318
HP:0000556	Retinal dystrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0000556	Retinal dystrophy	100151683	RNU4ATAC	OMIM:616651
HP:0000556	Retinal dystrophy	51259	TMEM216	OMIM:608091
HP:0000556	Retinal dystrophy	51259	TMEM216	ORPHA:2318
HP:0000556	Retinal dystrophy	56623	INPP5E	OMIM:213300
HP:0000556	Retinal dystrophy	56623	INPP5E	OMIM:610156
HP:0000556	Retinal dystrophy	56623	INPP5E	ORPHA:220493
HP:0000556	Retinal dystrophy	56623	INPP5E	ORPHA:75858
HP:0000556	Retinal dystrophy	2896	GRN	OMIM:614706
HP:0000556	Retinal dystrophy	286	ANK1	ORPHA:251066
HP:0000556	Retinal dystrophy	1605	DAG1	ORPHA:370997
HP:0000556	Retinal dystrophy	1605	DAG1	OMIM:616538
HP:0000556	Retinal dystrophy	1605	DAG1	ORPHA:899
HP:0000556	Retinal dystrophy	4036	LRP2	OMIM:222448
HP:0000556	Retinal dystrophy	4036	LRP2	ORPHA:2143
HP:0000556	Retinal dystrophy	79848	CSPP1	ORPHA:397715
HP:0000556	Retinal dystrophy	9786	KIAA0586	ORPHA:397715
HP:0000556	Retinal dystrophy	4867	NPHP1	OMIM:266900
HP:0000556	Retinal dystrophy	4867	NPHP1	ORPHA:3156
HP:0000556	Retinal dystrophy	64801	ARV1	OMIM:617020
HP:0000556	Retinal dystrophy	219854	TMEM218	OMIM:619562
HP:0000556	Retinal dystrophy	8882	ZPR1	OMIM:619321
HP:0000556	Retinal dystrophy	23322	RPGRIP1L	OMIM:611560
HP:0000556	Retinal dystrophy	80210	ARMC9	OMIM:617622
HP:0000556	Retinal dystrophy	284217	LAMA1	OMIM:615960
HP:0000556	Retinal dystrophy	284217	LAMA1	ORPHA:370022
HP:0000556	Retinal dystrophy	3832	KIF11	ORPHA:2526
HP:0000556	Retinal dystrophy	54806	AHI1	ORPHA:220493
HP:0000556	Retinal dystrophy	54806	AHI1	OMIM:608629
HP:0000556	Retinal dystrophy	153241	CEP120	ORPHA:220493
HP:0000556	Retinal dystrophy	80055	PGAP1	OMIM:615802
HP:0000556	Retinal dystrophy	50	ACO2	OMIM:614559
HP:0000556	Retinal dystrophy	51010	EXOSC3	OMIM:614678
HP:0000556	Retinal dystrophy	84892	POMGNT2	ORPHA:899
HP:0000556	Retinal dystrophy	148789	B3GALNT2	ORPHA:899
HP:0000556	Retinal dystrophy	79147	FKRP	ORPHA:899
HP:0000556	Retinal dystrophy	29954	POMT2	ORPHA:899
HP:0000556	Retinal dystrophy	9215	LARGE1	ORPHA:899
HP:0000556	Retinal dystrophy	1282	COL4A1	ORPHA:899
HP:0000556	Retinal dystrophy	729920	CRPPA	ORPHA:899
HP:0000556	Retinal dystrophy	10329	RXYLT1	ORPHA:899
HP:0000556	Retinal dystrophy	11041	B4GAT1	ORPHA:899
HP:0000556	Retinal dystrophy	10585	POMT1	ORPHA:899
HP:0000556	Retinal dystrophy	10585	POMT1	OMIM:613155
HP:0000556	Retinal dystrophy	84197	POMK	ORPHA:899
HP:0000556	Retinal dystrophy	2218	FKTN	ORPHA:899
HP:0000556	Retinal dystrophy	55624	POMGNT1	ORPHA:899
HP:0000556	Retinal dystrophy	652	BMP4	ORPHA:139471
HP:0000556	Retinal dystrophy	652	BMP4	OMIM:607932
HP:0000556	Retinal dystrophy	5230	PGK1	OMIM:300653
HP:0000556	Retinal dystrophy	5230	PGK1	ORPHA:713
HP:0000556	Retinal dystrophy	7275	TUB	OMIM:616188
HP:0000556	Retinal dystrophy	128338	DRAM2	OMIM:616502
HP:0000556	Retinal dystrophy	5015	OTX2	OMIM:610125
HP:0000556	Retinal dystrophy	4990	SIX6	OMIM:212550
HP:0000556	Retinal dystrophy	79583	TMEM231	ORPHA:2318
HP:0000556	Retinal dystrophy	23090	ZNF423	ORPHA:2318
HP:0000556	Retinal dystrophy	65062	TMEM237	ORPHA:2318
HP:0000556	Retinal dystrophy	55764	IFT122	OMIM:218330
HP:0000556	Retinal dystrophy	54539	NDUFB11	ORPHA:2556
HP:0000556	Retinal dystrophy	1349	COX7B	ORPHA:2556
HP:0000556	Retinal dystrophy	3052	HCCS	ORPHA:2556
HP:0000556	Retinal dystrophy	57531	HACE1	ORPHA:464282
HP:0000556	Retinal dystrophy	57531	HACE1	OMIM:616756
HP:0000556	Retinal dystrophy	283987	HID1	OMIM:619983
HP:0000556	Retinal dystrophy	4921	DDR2	OMIM:618175
HP:0000556	Retinal dystrophy	9445	ITM2B	OMIM:616079
HP:0000556	Retinal dystrophy	85378	TUBGCP6	OMIM:251270
HP:0000556	Retinal dystrophy	1410	CRYAB	OMIM:613763
HP:0000556	Retinal dystrophy	5950	RBP4	OMIM:615147
HP:0000556	Retinal dystrophy	145226	RDH12	OMIM:612712
HP:0000556	Retinal dystrophy	27130	INVS	ORPHA:3156
HP:0000556	Retinal dystrophy	27031	NPHP3	ORPHA:3156
HP:0000556	Retinal dystrophy	22897	CEP164	ORPHA:3156
HP:0000556	Retinal dystrophy	10908	PNPLA6	OMIM:215470
HP:0000556	Retinal dystrophy	10908	PNPLA6	ORPHA:1180
HP:0000556	Retinal dystrophy	89910	UBE3B	ORPHA:2707
HP:0000556	Retinal dystrophy	157680	VPS13B	ORPHA:193
HP:0000556	Retinal dystrophy	157680	VPS13B	OMIM:216550
HP:0000556	Retinal dystrophy	4646	MYO6	OMIM:607821
HP:0000556	Retinal dystrophy	2263	FGFR2	ORPHA:313855
HP:0000556	Retinal dystrophy	83696	TRAPPC9	ORPHA:352530
HP:0000556	Retinal dystrophy	2202	EFEMP1	ORPHA:75376
HP:0000556	Retinal dystrophy	3075	CFH	ORPHA:75376
HP:0000556	Retinal dystrophy	3426	CFI	ORPHA:75376
HP:0000556	Retinal dystrophy	6785	ELOVL4	OMIM:600110
HP:0000556	Retinal dystrophy	4166	CHST6	OMIM:217800
HP:0000556	Retinal dystrophy	3617	IMPG1	OMIM:153870
HP:0000556	Retinal dystrophy	3617	IMPG1	OMIM:616151
HP:0000556	Retinal dystrophy	1001	CDH3	OMIM:225280
HP:0000556	Retinal dystrophy	1001	CDH3	OMIM:601553
HP:0000556	Retinal dystrophy	1001	CDH3	ORPHA:1897
HP:0000556	Retinal dystrophy	93426	SYCE1	OMIM:616947
HP:0000556	Retinal dystrophy	4556	MT-TE	ORPHA:225
HP:0000556	Retinal dystrophy	4644	MYO5A	ORPHA:33445
HP:0000556	Retinal dystrophy	256471	MFSD8	OMIM:616170
HP:0000556	Retinal dystrophy	7078	TIMP3	OMIM:136900
HP:0000556	Retinal dystrophy	7078	TIMP3	ORPHA:59181
HP:0000556	Retinal dystrophy	92002	CCNQ	ORPHA:140952
HP:0000556	Retinal dystrophy	94137	RP1L1	OMIM:613587
HP:0000556	Retinal dystrophy	5961	PRPH2	OMIM:169150
HP:0000556	Retinal dystrophy	1495	CTNNA1	OMIM:608970
HP:0000556	Retinal dystrophy	5149	PDE6H	OMIM:610024
HP:0000556	Retinal dystrophy	4308	TRPM1	ORPHA:215
HP:0000556	Retinal dystrophy	57010	CABP4	ORPHA:215
HP:0000556	Retinal dystrophy	345193	LRIT3	ORPHA:215
HP:0000556	Retinal dystrophy	93589	CACNA2D4	ORPHA:215
HP:0000556	Retinal dystrophy	2916	GRM6	ORPHA:215
HP:0000556	Retinal dystrophy	5158	PDE6B	ORPHA:215
HP:0000556	Retinal dystrophy	440435	GPR179	ORPHA:215
HP:0000556	Retinal dystrophy	6011	GRK1	ORPHA:215
HP:0000556	Retinal dystrophy	778	CACNA1F	ORPHA:215
HP:0000556	Retinal dystrophy	9187	SLC24A1	ORPHA:215
HP:0000556	Retinal dystrophy	6295	SAG	ORPHA:215
HP:0000556	Retinal dystrophy	2784	GNB3	ORPHA:215
HP:0000556	Retinal dystrophy	2779	GNAT1	ORPHA:215
HP:0000556	Retinal dystrophy	60506	NYX	ORPHA:215
HP:0000556	Retinal dystrophy	5959	RDH5	OMIM:136880
HP:0000556	Retinal dystrophy	6010	RHO	OMIM:136880
HP:0000556	Retinal dystrophy	6017	RLBP1	OMIM:136880
HP:0000557	Buphthalmos	7837	PXDN	OMIM:269400
HP:0000557	Buphthalmos	2776	GNAQ	OMIM:185300
HP:0000557	Buphthalmos	220202	ATOH7	OMIM:221900
HP:0000557	Buphthalmos	220202	ATOH7	ORPHA:91495
HP:0000557	Buphthalmos	285590	SH3PXD2B	OMIM:249420
HP:0000557	Buphthalmos	29954	POMT2	OMIM:613150
HP:0000557	Buphthalmos	29954	POMT2	OMIM:236670
HP:0000557	Buphthalmos	2530	FUT8	OMIM:618005
HP:0000557	Buphthalmos	54892	NCAPG2	OMIM:618460
HP:0000557	Buphthalmos	92949	ADAMTSL1	ORPHA:521445
HP:0000557	Buphthalmos	1545	CYP1B1	OMIM:231300
HP:0000557	Buphthalmos	169792	GLIS3	OMIM:610199
HP:0000557	Buphthalmos	7291	TWIST1	OMIM:101400
HP:0000557	Buphthalmos	2263	FGFR2	OMIM:101400
HP:0000557	Buphthalmos	4081	MAB21L1	OMIM:618479
HP:0000557	Buphthalmos	1605	DAG1	OMIM:616538
HP:0000557	Buphthalmos	1605	DAG1	ORPHA:370997
HP:0000557	Buphthalmos	55624	POMGNT1	OMIM:253280
HP:0000557	Buphthalmos	4693	NDP	OMIM:310600
HP:0000557	Buphthalmos	4693	NDP	ORPHA:91495
HP:0000557	Buphthalmos	81846	SBF2	ORPHA:99956
HP:0000557	Buphthalmos	8322	FZD4	ORPHA:91495
HP:0000557	Buphthalmos	4990	SIX6	OMIM:212550
HP:0000557	Buphthalmos	4952	OCRL	ORPHA:534
HP:0000557	Buphthalmos	4053	LTBP2	OMIM:251750
HP:0000557	Buphthalmos	9215	LARGE1	OMIM:236670
HP:0000557	Buphthalmos	79147	FKRP	OMIM:236670
HP:0000557	Buphthalmos	10585	POMT1	OMIM:236670
HP:0000557	Buphthalmos	2218	FKTN	OMIM:236670
HP:0000557	Buphthalmos	5728	PTEN	ORPHA:744
HP:0000557	Buphthalmos	207	AKT1	ORPHA:744
HP:0000558	Rieger anomaly	92949	ADAMTSL1	ORPHA:521445
HP:0000558	Rieger anomaly	5080	PAX6	OMIM:604229
HP:0000558	Rieger anomaly	5295	PIK3R1	OMIM:269880
HP:0000558	Rieger anomaly	2296	FOXC1	OMIM:601631
HP:0000558	Rieger anomaly	53834	FGFRL1	OMIM:194190
HP:0000558	Rieger anomaly	1487	CTBP1	OMIM:194190
HP:0000558	Rieger anomaly	3954	LETM1	OMIM:194190
HP:0000558	Rieger anomaly	7468	NSD2	OMIM:194190
HP:0000558	Rieger anomaly	10815	CPLX1	OMIM:194190
HP:0000558	Rieger anomaly	5308	PITX2	OMIM:180500
HP:0000558	Rieger anomaly	3480	IGF1R	OMIM:270450
HP:0000558	Rieger anomaly	3913	LAMB2	OMIM:609049
HP:0000559	Corneal scarring	4914	NTRK1	ORPHA:642
HP:0000559	Corneal scarring	4914	NTRK1	OMIM:256800
HP:0000559	Corneal scarring	5422	POLA1	OMIM:301220
HP:0000559	Corneal scarring	1294	COL7A1	OMIM:226600
HP:0000559	Corneal scarring	4312	MMP1	OMIM:226600
HP:0000559	Corneal scarring	7390	UROS	OMIM:263700
HP:0000559	Corneal scarring	54892	NCAPG2	OMIM:618460
HP:0000559	Corneal scarring	667	DST	OMIM:614653
HP:0000559	Corneal scarring	85446	ZFHX2	OMIM:147430
HP:0000559	Corneal scarring	1387	CREBBP	ORPHA:353277
HP:0000559	Corneal scarring	59335	PRDM12	OMIM:616488
HP:0000559	Corneal scarring	4358	MPV17	OMIM:256810
HP:0000559	Corneal scarring	2706	GJB2	OMIM:148210
HP:0000559	Corneal scarring	2033	EP300	ORPHA:353284
HP:0000559	Corneal scarring	7045	TGFBI	OMIM:602082
HP:0000559	Corneal scarring	7045	TGFBI	ORPHA:98964
HP:0000559	Corneal scarring	55768	NGLY1	ORPHA:404454
HP:0000559	Corneal scarring	4990	SIX6	OMIM:212550
HP:0000559	Corneal scarring	2072	ERCC4	OMIM:610965
HP:0000559	Corneal scarring	1308	COL17A1	ORPHA:293381
HP:0000559	Corneal scarring	4952	OCRL	OMIM:309000
HP:0000559	Corneal scarring	11107	PRDM5	ORPHA:90354
HP:0000559	Corneal scarring	84627	ZNF469	ORPHA:90354
HP:0010772	Anomalous pulmonary venous return	7547	ZIC3	OMIM:306955
HP:0010772	Anomalous pulmonary venous return	6210	RPS15A	OMIM:618313
HP:0010772	Anomalous pulmonary venous return	2657	GDF1	OMIM:208530
HP:0010772	Anomalous pulmonary venous return	2657	GDF1	OMIM:613854
HP:0010772	Anomalous pulmonary venous return	123606	NIPA1	ORPHA:261183
HP:0010772	Anomalous pulmonary venous return	7283	TUBG1	ORPHA:261183
HP:0010772	Anomalous pulmonary venous return	81614	NIPA2	ORPHA:261183
HP:0010772	Anomalous pulmonary venous return	998	CDC42	ORPHA:487796
HP:0010772	Anomalous pulmonary venous return	93	ACVR2B	OMIM:613751
HP:0010772	Anomalous pulmonary venous return	220136	CFAP53	OMIM:614779
HP:0010772	Anomalous pulmonary venous return	2719	GPC3	OMIM:312870
HP:0010772	Anomalous pulmonary venous return	2239	GPC4	OMIM:312870
HP:0010772	Anomalous pulmonary venous return	118856	MMP21	OMIM:616749
HP:0010772	Anomalous pulmonary venous return	25981	DNAH1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	115948	ODAD3	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	54768	HYDIN	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	352909	DNAAF3	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	27148	STK36	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	51314	NME8	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	92749	DRC1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	54970	TTC12	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	152110	NEK10	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	8481	OFD1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	2302	FOXJ1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	221421	RSPH9	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	85478	CCDC65	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	55036	CCDC40	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	51364	ZMYND10	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	64446	DNAI2	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	6674	SPAG1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	83544	DNAL1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	89765	RSPH1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	83538	ODAD4	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	200373	CFAP221	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	374407	DNAJB13	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	55172	DNAAF2	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	161582	DNAAF4	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	2622	GAS8	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	23639	DNAAF11	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	27019	DNAI1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	345895	RSPH4A	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	54919	DNAAF5	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	6103	RPGR	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	388389	CCDC103	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	93233	ODAD1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	55130	ODAD2	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	1767	DNAH5	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	83861	RSPH3	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	345643	MCIDAS	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	56683	CFAP298	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	79925	SPEF2	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	10309	CCNO	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	115399	LRRC56	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	139212	DNAAF6	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	123872	DNAAF1	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	85016	CFAP300	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	339829	CCDC39	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	8701	DNAH11	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	1770	DNAH9	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	246176	GAS2L2	ORPHA:244
HP:0010772	Anomalous pulmonary venous return	1718	DHCR24	ORPHA:35107
HP:0010772	Anomalous pulmonary venous return	6910	TBX5	ORPHA:392
HP:0010772	Anomalous pulmonary venous return	10370	CITED2	OMIM:614433
HP:0010772	Anomalous pulmonary venous return	10370	CITED2	ORPHA:99105
HP:0010772	Anomalous pulmonary venous return	27125	AFF4	OMIM:616368
HP:0010772	Anomalous pulmonary venous return	134701	RIPPLY2	ORPHA:2311
HP:0010772	Anomalous pulmonary venous return	10683	DLL3	ORPHA:2311
HP:0010772	Anomalous pulmonary venous return	3955	LFNG	ORPHA:2311
HP:0010772	Anomalous pulmonary venous return	84667	HES7	ORPHA:2311
HP:0010772	Anomalous pulmonary venous return	145873	MESP2	ORPHA:2311
HP:0010772	Anomalous pulmonary venous return	745	MYRF	OMIM:618280
HP:0010772	Anomalous pulmonary venous return	9968	MED12	OMIM:301068
HP:0010772	Anomalous pulmonary venous return	2294	FOXF1	OMIM:265380
HP:0010772	Anomalous pulmonary venous return	7490	WT1	OMIM:608978
HP:0010772	Anomalous pulmonary venous return	8243	SMC1A	OMIM:301044
HP:0010772	Anomalous pulmonary venous return	2623	GATA1	OMIM:190685
HP:0010772	Anomalous pulmonary venous return	54916	TMEM260	OMIM:617478
HP:0010772	Anomalous pulmonary venous return	4087	SMAD2	OMIM:619657
HP:0010772	Anomalous pulmonary venous return	100128908	CIROP	OMIM:619702
HP:0010772	Anomalous pulmonary venous return	4838	NODAL	OMIM:270100
HP:0010773	Partial anomalous pulmonary venous return	745	MYRF	OMIM:618280
HP:0010773	Partial anomalous pulmonary venous return	9968	MED12	OMIM:301068
HP:0010773	Partial anomalous pulmonary venous return	2294	FOXF1	OMIM:265380
HP:0010773	Partial anomalous pulmonary venous return	7490	WT1	OMIM:608978
HP:0010773	Partial anomalous pulmonary venous return	8243	SMC1A	OMIM:301044
HP:0010773	Partial anomalous pulmonary venous return	2623	GATA1	OMIM:190685
HP:0010773	Partial anomalous pulmonary venous return	54916	TMEM260	OMIM:617478
HP:0010773	Partial anomalous pulmonary venous return	4087	SMAD2	OMIM:619657
HP:0010773	Partial anomalous pulmonary venous return	100128908	CIROP	OMIM:619702
HP:0010773	Partial anomalous pulmonary venous return	4838	NODAL	OMIM:270100
HP:0010774	Cor triatriatum	92579	G6PC3	OMIM:612541
HP:0010774	Cor triatriatum	79989	IFT56	OMIM:619534
HP:0010774	Cor triatriatum	745	MYRF	OMIM:618280
HP:0010775	Vascular ring	1387	CREBBP	OMIM:180849
HP:0010775	Vascular ring	1387	CREBBP	ORPHA:353277
HP:0010775	Vascular ring	1387	CREBBP	ORPHA:353281
HP:0010775	Vascular ring	2033	EP300	OMIM:180849
HP:0010775	Vascular ring	2033	EP300	ORPHA:353284
HP:0010775	Vascular ring	5296	PIK3R2	OMIM:603387
HP:0010775	Vascular ring	9894	TELO2	OMIM:616954
HP:0007715	Weak extraocular muscles	8314	BAP1	ORPHA:2495
HP:0007715	Weak extraocular muscles	4771	NF2	ORPHA:2495
HP:0007715	Weak extraocular muscles	6598	SMARCB1	ORPHA:2495
HP:0007715	Weak extraocular muscles	5155	PDGFB	ORPHA:2495
HP:0007715	Weak extraocular muscles	84231	TRAF7	ORPHA:2495
HP:0007715	Weak extraocular muscles	6608	SMO	ORPHA:2495
HP:0007715	Weak extraocular muscles	207	AKT1	ORPHA:2495
HP:0007715	Weak extraocular muscles	5290	PIK3CA	ORPHA:2495
HP:0007715	Weak extraocular muscles	7015	TERT	ORPHA:2495
HP:0007715	Weak extraocular muscles	51684	SUFU	ORPHA:2495
HP:0007715	Weak extraocular muscles	6605	SMARCE1	ORPHA:2495
HP:0007715	Weak extraocular muscles	88	ACTN2	OMIM:618654
HP:0007716	Uveal melanoma	8930	MBD4	OMIM:619975
HP:0007716	Uveal melanoma	8930	MBD4	OMIM:606660
HP:0007716	Uveal melanoma	6794	STK11	OMIM:155600
HP:0007716	Uveal melanoma	673	BRAF	OMIM:155600
HP:0007716	Uveal melanoma	8314	BAP1	ORPHA:39044
HP:0007716	Uveal melanoma	57105	CYSLTR2	ORPHA:39044
HP:0007716	Uveal melanoma	2776	GNAQ	ORPHA:39044
HP:0007716	Uveal melanoma	2767	GNA11	ORPHA:39044
HP:0007716	Uveal melanoma	23451	SF3B1	ORPHA:39044
HP:0007717	Chronic irritative conjunctivitis	8626	TP63	ORPHA:69085
HP:0000567	Chorioretinal coloboma	60	ACTB	OMIM:243310
HP:0000567	Chorioretinal coloboma	57167	SALL4	ORPHA:233
HP:0000567	Chorioretinal coloboma	57167	SALL4	ORPHA:959
HP:0000567	Chorioretinal coloboma	9935	MAFB	ORPHA:233
HP:0000567	Chorioretinal coloboma	1123	CHN1	ORPHA:233
HP:0000567	Chorioretinal coloboma	64840	PORCN	OMIM:305600
HP:0000567	Chorioretinal coloboma	64840	PORCN	ORPHA:2092
HP:0000567	Chorioretinal coloboma	8260	NAA10	OMIM:309800
HP:0000567	Chorioretinal coloboma	8260	NAA10	ORPHA:568
HP:0000567	Chorioretinal coloboma	54880	BCOR	OMIM:309800
HP:0000567	Chorioretinal coloboma	54880	BCOR	ORPHA:568
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	OMIM:619111
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	ORPHA:2318
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	ORPHA:1454
HP:0000567	Chorioretinal coloboma	6711	SPTBN1	OMIM:619475
HP:0000567	Chorioretinal coloboma	51259	TMEM216	OMIM:608091
HP:0000567	Chorioretinal coloboma	51259	TMEM216	ORPHA:2318
HP:0000567	Chorioretinal coloboma	56623	INPP5E	OMIM:213300
HP:0000567	Chorioretinal coloboma	56623	INPP5E	ORPHA:1454
HP:0000567	Chorioretinal coloboma	10413	YAP1	OMIM:120433
HP:0000567	Chorioretinal coloboma	10413	YAP1	ORPHA:1473
HP:0000567	Chorioretinal coloboma	9839	ZEB2	OMIM:235730
HP:0000567	Chorioretinal coloboma	6469	SHH	OMIM:611638
HP:0000567	Chorioretinal coloboma	5728	PTEN	ORPHA:744
HP:0000567	Chorioretinal coloboma	207	AKT1	ORPHA:744
HP:0000567	Chorioretinal coloboma	79759	ZNF668	OMIM:620194
HP:0000567	Chorioretinal coloboma	6299	SALL1	OMIM:107480
HP:0000567	Chorioretinal coloboma	6299	SALL1	ORPHA:857
HP:0000567	Chorioretinal coloboma	64412	GZF1	OMIM:617662
HP:0000567	Chorioretinal coloboma	3149	HMGB3	OMIM:300915
HP:0000567	Chorioretinal coloboma	51339	DACT1	ORPHA:857
HP:0000567	Chorioretinal coloboma	5080	PAX6	ORPHA:137902
HP:0000567	Chorioretinal coloboma	5080	PAX6	OMIM:120200
HP:0000567	Chorioretinal coloboma	9573	GDF3	OMIM:613702
HP:0000567	Chorioretinal coloboma	55636	CHD7	ORPHA:138
HP:0000567	Chorioretinal coloboma	9723	SEMA3E	ORPHA:138
HP:0000567	Chorioretinal coloboma	113246	C12orf57	OMIM:218340
HP:0000567	Chorioretinal coloboma	51322	WAC	ORPHA:284169
HP:0000567	Chorioretinal coloboma	473	RERE	ORPHA:494344
HP:0000567	Chorioretinal coloboma	652	BMP4	ORPHA:139471
HP:0000567	Chorioretinal coloboma	57020	VPS35L	OMIM:619135
HP:0000567	Chorioretinal coloboma	149461	CLDN19	ORPHA:2196
HP:0000567	Chorioretinal coloboma	8573	CASK	ORPHA:163937
HP:0000567	Chorioretinal coloboma	55733	HHAT	ORPHA:1422
HP:0000567	Chorioretinal coloboma	9487	PIGL	OMIM:280000
HP:0000567	Chorioretinal coloboma	8777	MPDZ	OMIM:615219
HP:0000567	Chorioretinal coloboma	5950	RBP4	OMIM:616428
HP:0000567	Chorioretinal coloboma	91147	TMEM67	OMIM:610688
HP:0000567	Chorioretinal coloboma	91147	TMEM67	ORPHA:1454
HP:0000567	Chorioretinal coloboma	4990	SIX6	OMIM:212550
HP:0000567	Chorioretinal coloboma	3166	HMX1	OMIM:612109
HP:0000567	Chorioretinal coloboma	79583	TMEM231	ORPHA:2318
HP:0000567	Chorioretinal coloboma	51524	TMEM138	ORPHA:2318
HP:0000567	Chorioretinal coloboma	23090	ZNF423	ORPHA:2318
HP:0000567	Chorioretinal coloboma	80184	CEP290	ORPHA:2318
HP:0000567	Chorioretinal coloboma	65062	TMEM237	ORPHA:2318
HP:0000567	Chorioretinal coloboma	6496	SIX3	OMIM:157170
HP:0000567	Chorioretinal coloboma	50945	TBX22	ORPHA:921
HP:0000567	Chorioretinal coloboma	9897	WASHC5	ORPHA:7
HP:0000567	Chorioretinal coloboma	28952	CCDC22	ORPHA:7
HP:0000567	Chorioretinal coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000567	Chorioretinal coloboma	10058	ABCB6	OMIM:614497
HP:0007911	Congenital bilateral ptosis	3479	IGF1	ORPHA:73272
HP:0007911	Congenital bilateral ptosis	84570	COL25A1	ORPHA:91411
HP:0007911	Congenital bilateral ptosis	79776	ZFHX4	ORPHA:91411
HP:0007720	Flat cornea	11081	KERA	OMIM:217300
HP:0007720	Flat cornea	4140	MARK3	OMIM:618283
HP:0007720	Flat cornea	6804	STX1A	ORPHA:904
HP:0007720	Flat cornea	7461	CLIP2	ORPHA:904
HP:0007720	Flat cornea	84277	DNAJC30	ORPHA:904
HP:0007720	Flat cornea	8468	FKBP6	ORPHA:904
HP:0007720	Flat cornea	5982	RFC2	ORPHA:904
HP:0007720	Flat cornea	2969	GTF2I	ORPHA:904
HP:0007720	Flat cornea	3984	LIMK1	ORPHA:904
HP:0007720	Flat cornea	9569	GTF2IRD1	ORPHA:904
HP:0007720	Flat cornea	155382	VPS37D	ORPHA:904
HP:0007720	Flat cornea	155368	METTL27	ORPHA:904
HP:0007720	Flat cornea	114049	BUD23	ORPHA:904
HP:0007720	Flat cornea	7458	EIF4H	ORPHA:904
HP:0007720	Flat cornea	84163	GTF2IRD2	ORPHA:904
HP:0007720	Flat cornea	9275	BCL7B	ORPHA:904
HP:0007720	Flat cornea	26608	TBL2	ORPHA:904
HP:0007720	Flat cornea	653361	NCF1	ORPHA:904
HP:0007720	Flat cornea	135886	TMEM270	ORPHA:904
HP:0007720	Flat cornea	51085	MLXIPL	ORPHA:904
HP:0007720	Flat cornea	9031	BAZ1B	ORPHA:904
HP:0007720	Flat cornea	2006	ELN	ORPHA:904
HP:0007720	Flat cornea	7042	TGFB2	OMIM:614816
HP:0007720	Flat cornea	11107	PRDM5	OMIM:614170
HP:0000622	Blurred vision	50964	SOST	OMIM:269500
HP:0000622	Blurred vision	6335	SCN9A	OMIM:133020
HP:0000622	Blurred vision	3736	KCNA1	OMIM:160120
HP:0000622	Blurred vision	3736	KCNA1	ORPHA:37612
HP:0000622	Blurred vision	1621	DBH	ORPHA:230
HP:0000622	Blurred vision	4137	MAPT	OMIM:601104
HP:0000622	Blurred vision	4137	MAPT	ORPHA:240071
HP:0000622	Blurred vision	4070	TACSTD2	OMIM:204870
HP:0000622	Blurred vision	114548	NLRP3	OMIM:148200
HP:0000622	Blurred vision	1282	COL4A1	OMIM:175780
HP:0000622	Blurred vision	1308	COL17A1	ORPHA:293381
HP:0000622	Blurred vision	84277	DNAJC30	ORPHA:104
HP:0000622	Blurred vision	4535	MT-ND1	ORPHA:104
HP:0000622	Blurred vision	4536	MT-ND2	ORPHA:104
HP:0000622	Blurred vision	4538	MT-ND4	ORPHA:104
HP:0000622	Blurred vision	4720	NDUFS2	ORPHA:104
HP:0000622	Blurred vision	4512	MT-CO1	ORPHA:104
HP:0000622	Blurred vision	4514	MT-CO3	ORPHA:104
HP:0000622	Blurred vision	4519	MT-CYB	ORPHA:104
HP:0000622	Blurred vision	4508	MT-ATP6	ORPHA:104
HP:0000622	Blurred vision	4540	MT-ND5	ORPHA:104
HP:0000622	Blurred vision	4541	MT-ND6	ORPHA:104
HP:0000622	Blurred vision	4539	MT-ND4L	ORPHA:104
HP:0000622	Blurred vision	7045	TGFBI	ORPHA:98963
HP:0000622	Blurred vision	335	APOA1	ORPHA:425
HP:0000622	Blurred vision	19	ABCA1	ORPHA:425
HP:0000622	Blurred vision	6329	SCN4A	ORPHA:99734
HP:0000622	Blurred vision	9227	LRAT	ORPHA:364055
HP:0000622	Blurred vision	55812	SPATA7	ORPHA:364055
HP:0000622	Blurred vision	6121	RPE65	ORPHA:364055
HP:0000622	Blurred vision	167691	LCA5	ORPHA:364055
HP:0000622	Blurred vision	83959	SLC4A11	ORPHA:293603
HP:0000622	Blurred vision	3105	HLA-A	ORPHA:179
HP:0000622	Blurred vision	3123	HLA-DRB1	OMIM:181000
HP:0000622	Blurred vision	138050	HGSNAT	OMIM:616544
HP:0000622	Blurred vision	6559	SLC12A3	OMIM:263800
HP:0000622	Blurred vision	6559	SLC12A3	ORPHA:358
HP:0000622	Blurred vision	10528	NOP56	ORPHA:276198
HP:0000622	Blurred vision	1188	CLCNKB	ORPHA:358
HP:0000622	Blurred vision	6935	ZEB1	ORPHA:98973
HP:0000622	Blurred vision	30813	VSX1	ORPHA:98973
HP:0000622	Blurred vision	58495	OVOL2	ORPHA:98973
HP:0000622	Blurred vision	79977	GRHL2	ORPHA:98973
HP:0000622	Blurred vision	1296	COL8A2	ORPHA:98973
HP:0000622	Blurred vision	773	CACNA1A	OMIM:141500
HP:0000622	Blurred vision	477	ATP1A2	OMIM:602481
HP:0000590	Progressive external ophthalmoplegia	4558	MT-TF	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4572	MT-TQ	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4512	MT-CO1	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4513	MT-CO2	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4514	MT-CO3	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4578	MT-TW	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4540	MT-ND5	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4541	MT-ND6	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4535	MT-ND1	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4538	MT-ND4	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4567	MT-TL1	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4567	MT-TL1	ORPHA:663
HP:0000590	Progressive external ophthalmoplegia	4567	MT-TL1	ORPHA:480
HP:0000590	Progressive external ophthalmoplegia	4574	MT-TS1	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4574	MT-TS1	ORPHA:663
HP:0000590	Progressive external ophthalmoplegia	4575	MT-TS2	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	4564	MT-TH	ORPHA:550
HP:0000590	Progressive external ophthalmoplegia	1716	DGUOK	OMIM:617070
HP:0000590	Progressive external ophthalmoplegia	1716	DGUOK	ORPHA:329314
HP:0000590	Progressive external ophthalmoplegia	7084	TK2	ORPHA:254875
HP:0000590	Progressive external ophthalmoplegia	7084	TK2	OMIM:617069
HP:0000590	Progressive external ophthalmoplegia	1763	DNA2	OMIM:615156
HP:0000590	Progressive external ophthalmoplegia	1763	DNA2	ORPHA:352470
HP:0000590	Progressive external ophthalmoplegia	4576	MT-TT	ORPHA:254857
HP:0000590	Progressive external ophthalmoplegia	50484	RRM2B	OMIM:613077
HP:0000590	Progressive external ophthalmoplegia	50484	RRM2B	ORPHA:329336
HP:0000590	Progressive external ophthalmoplegia	50484	RRM2B	ORPHA:480
HP:0000590	Progressive external ophthalmoplegia	246243	RNASEH1	ORPHA:329336
HP:0000590	Progressive external ophthalmoplegia	246243	RNASEH1	OMIM:616479
HP:0000590	Progressive external ophthalmoplegia	291	SLC25A4	OMIM:609283
HP:0000590	Progressive external ophthalmoplegia	708	C1QBP	OMIM:617713
HP:0000590	Progressive external ophthalmoplegia	1890	TYMP	OMIM:603041
HP:0000590	Progressive external ophthalmoplegia	5428	POLG	OMIM:603041
HP:0000590	Progressive external ophthalmoplegia	5428	POLG	OMIM:258450
HP:0000590	Progressive external ophthalmoplegia	5428	POLG	OMIM:157640
HP:0000590	Progressive external ophthalmoplegia	5428	POLG	OMIM:607459
HP:0000590	Progressive external ophthalmoplegia	5428	POLG	OMIM:613662
HP:0000590	Progressive external ophthalmoplegia	4287	ATXN3	ORPHA:276244
HP:0000590	Progressive external ophthalmoplegia	4287	ATXN3	ORPHA:276241
HP:0000590	Progressive external ophthalmoplegia	4287	ATXN3	ORPHA:276238
HP:0000590	Progressive external ophthalmoplegia	4566	MT-TK	ORPHA:1349
HP:0000590	Progressive external ophthalmoplegia	4976	OPA1	OMIM:165500
HP:0000590	Progressive external ophthalmoplegia	4976	OPA1	ORPHA:1215
HP:0000590	Progressive external ophthalmoplegia	57176	VARS2	OMIM:615917
HP:0000590	Progressive external ophthalmoplegia	56652	TWNK	OMIM:609286
HP:0000590	Progressive external ophthalmoplegia	56652	TWNK	OMIM:607459
HP:0000590	Progressive external ophthalmoplegia	92667	MGME1	ORPHA:352447
HP:0000590	Progressive external ophthalmoplegia	92667	MGME1	OMIM:615084
HP:0000590	Progressive external ophthalmoplegia	4568	MT-TL2	ORPHA:663
HP:0000590	Progressive external ophthalmoplegia	4570	MT-TN	ORPHA:663
HP:0000590	Progressive external ophthalmoplegia	4509	MT-ATP8	ORPHA:480
HP:0000590	Progressive external ophthalmoplegia	5442	POLRMT	OMIM:619743
HP:0000590	Progressive external ophthalmoplegia	7156	TOP3A	OMIM:618098
HP:0000590	Progressive external ophthalmoplegia	11232	POLG2	OMIM:610131
HP:0000590	Progressive external ophthalmoplegia	54840	APTX	OMIM:208920
HP:0000590	Progressive external ophthalmoplegia	10755	GIPC1	ORPHA:98897
HP:0000590	Progressive external ophthalmoplegia	100996717	NOTCH2NLC	ORPHA:98897
HP:0000563	Keratoconus	1281	COL3A1	OMIM:130050
HP:0000563	Keratoconus	1281	COL3A1	ORPHA:286
HP:0000563	Keratoconus	3769	KCNJ13	ORPHA:65
HP:0000563	Keratoconus	343035	RD3	ORPHA:65
HP:0000563	Keratoconus	145226	RDH12	ORPHA:65
HP:0000563	Keratoconus	145226	RDH12	ORPHA:791
HP:0000563	Keratoconus	1406	CRX	ORPHA:65
HP:0000563	Keratoconus	1406	CRX	ORPHA:791
HP:0000563	Keratoconus	1406	CRX	OMIM:613829
HP:0000563	Keratoconus	64802	NMNAT1	ORPHA:65
HP:0000563	Keratoconus	64802	NMNAT1	OMIM:608553
HP:0000563	Keratoconus	57096	RPGRIP1	ORPHA:65
HP:0000563	Keratoconus	57096	RPGRIP1	OMIM:613826
HP:0000563	Keratoconus	80184	CEP290	ORPHA:65
HP:0000563	Keratoconus	10383	TUBB4B	ORPHA:65
HP:0000563	Keratoconus	9742	IFT140	ORPHA:65
HP:0000563	Keratoconus	9742	IFT140	ORPHA:791
HP:0000563	Keratoconus	85015	USP45	ORPHA:65
HP:0000563	Keratoconus	6121	RPE65	ORPHA:65
HP:0000563	Keratoconus	6121	RPE65	ORPHA:791
HP:0000563	Keratoconus	6121	RPE65	OMIM:204100
HP:0000563	Keratoconus	23418	CRB1	ORPHA:65
HP:0000563	Keratoconus	23418	CRB1	ORPHA:791
HP:0000563	Keratoconus	23418	CRB1	OMIM:613835
HP:0000563	Keratoconus	5130	PCYT1A	ORPHA:65
HP:0000563	Keratoconus	9657	IQCB1	ORPHA:65
HP:0000563	Keratoconus	392255	GDF6	ORPHA:65
HP:0000563	Keratoconus	23746	AIPL1	ORPHA:65
HP:0000563	Keratoconus	23746	AIPL1	OMIM:604393
HP:0000563	Keratoconus	3000	GUCY2D	ORPHA:65
HP:0000563	Keratoconus	3000	GUCY2D	OMIM:204000
HP:0000563	Keratoconus	9227	LRAT	ORPHA:65
HP:0000563	Keratoconus	9227	LRAT	ORPHA:791
HP:0000563	Keratoconus	55812	SPATA7	ORPHA:65
HP:0000563	Keratoconus	55812	SPATA7	ORPHA:791
HP:0000563	Keratoconus	7287	TULP1	ORPHA:65
HP:0000563	Keratoconus	7287	TULP1	ORPHA:791
HP:0000563	Keratoconus	167691	LCA5	ORPHA:65
HP:0000563	Keratoconus	3614	IMPDH1	ORPHA:65
HP:0000563	Keratoconus	3614	IMPDH1	ORPHA:791
HP:0000563	Keratoconus	7025	NR2F1	ORPHA:401777
HP:0000563	Keratoconus	92840	REEP6	ORPHA:791
HP:0000563	Keratoconus	6094	ROM1	ORPHA:791
HP:0000563	Keratoconus	6017	RLBP1	ORPHA:791
HP:0000563	Keratoconus	7401	CLRN1	ORPHA:791
HP:0000563	Keratoconus	24	ABCA4	ORPHA:791
HP:0000563	Keratoconus	130557	ZNF513	ORPHA:791
HP:0000563	Keratoconus	582	BBS1	ORPHA:791
HP:0000563	Keratoconus	92211	CDHR1	ORPHA:791
HP:0000563	Keratoconus	23568	ARL2BP	ORPHA:791
HP:0000563	Keratoconus	54806	AHI1	ORPHA:791
HP:0000563	Keratoconus	6101	RP1	ORPHA:791
HP:0000563	Keratoconus	3419	IDH3A	ORPHA:791
HP:0000563	Keratoconus	4751	NEK2	ORPHA:791
HP:0000563	Keratoconus	346007	EYS	ORPHA:791
HP:0000563	Keratoconus	8100	IFT88	ORPHA:791
HP:0000563	Keratoconus	23020	SNRNP200	ORPHA:791
HP:0000563	Keratoconus	762	CA4	ORPHA:791
HP:0000563	Keratoconus	138050	HGSNAT	ORPHA:791
HP:0000563	Keratoconus	196	AHR	ORPHA:791
HP:0000563	Keratoconus	123016	TTC8	ORPHA:791
HP:0000563	Keratoconus	6103	RPGR	ORPHA:791
HP:0000563	Keratoconus	5148	PDE6G	ORPHA:791
HP:0000563	Keratoconus	26160	IFT172	ORPHA:791
HP:0000563	Keratoconus	26121	PRPF31	ORPHA:791
HP:0000563	Keratoconus	583	BBS2	ORPHA:791
HP:0000563	Keratoconus	4117	MAK	ORPHA:791
HP:0000563	Keratoconus	25794	FSCN2	ORPHA:791
HP:0000563	Keratoconus	375298	CERKL	ORPHA:791
HP:0000563	Keratoconus	3420	IDH3B	ORPHA:791
HP:0000563	Keratoconus	57670	KIAA1549	ORPHA:791
HP:0000563	Keratoconus	7275	TUB	ORPHA:791
HP:0000563	Keratoconus	24148	PRPF6	ORPHA:791
HP:0000563	Keratoconus	10461	MERTK	ORPHA:791
HP:0000563	Keratoconus	57709	SLC7A14	ORPHA:791
HP:0000563	Keratoconus	768206	PRCD	ORPHA:791
HP:0000563	Keratoconus	7399	USH2A	ORPHA:791
HP:0000563	Keratoconus	23370	ARHGEF18	ORPHA:791
HP:0000563	Keratoconus	5949	RBP3	ORPHA:791
HP:0000563	Keratoconus	6010	RHO	ORPHA:791
HP:0000563	Keratoconus	6100	RP9	ORPHA:791
HP:0000563	Keratoconus	10002	NR2E3	ORPHA:791
HP:0000563	Keratoconus	84140	FAM161A	ORPHA:791
HP:0000563	Keratoconus	55624	POMGNT1	ORPHA:791
HP:0000563	Keratoconus	79797	ZNF408	ORPHA:791
HP:0000563	Keratoconus	403	ARL3	ORPHA:791
HP:0000563	Keratoconus	5145	PDE6A	ORPHA:791
HP:0000563	Keratoconus	10210	TOPORS	ORPHA:791
HP:0000563	Keratoconus	8842	PROM1	ORPHA:791
HP:0000563	Keratoconus	9128	PRPF4	ORPHA:791
HP:0000563	Keratoconus	50939	IMPG2	ORPHA:791
HP:0000563	Keratoconus	8481	OFD1	ORPHA:791
HP:0000563	Keratoconus	49855	SCAPER	ORPHA:791
HP:0000563	Keratoconus	2979	GUCA1B	ORPHA:791
HP:0000563	Keratoconus	1259	CNGA1	ORPHA:791
HP:0000563	Keratoconus	1258	CNGB1	ORPHA:791
HP:0000563	Keratoconus	60509	AGBL5	ORPHA:791
HP:0000563	Keratoconus	5961	PRPH2	ORPHA:791
HP:0000563	Keratoconus	388939	PCARE	ORPHA:791
HP:0000563	Keratoconus	7439	BEST1	ORPHA:791
HP:0000563	Keratoconus	9785	DHX38	ORPHA:791
HP:0000563	Keratoconus	5995	RGR	ORPHA:791
HP:0000563	Keratoconus	9129	PRPF3	ORPHA:791
HP:0000563	Keratoconus	55975	KLHL7	ORPHA:791
HP:0000563	Keratoconus	3617	IMPG1	ORPHA:791
HP:0000563	Keratoconus	94137	RP1L1	ORPHA:791
HP:0000563	Keratoconus	5158	PDE6B	ORPHA:791
HP:0000563	Keratoconus	6102	RP2	ORPHA:791
HP:0000563	Keratoconus	55857	KIZ	ORPHA:791
HP:0000563	Keratoconus	64218	SEMA4A	ORPHA:791
HP:0000563	Keratoconus	4901	NRL	ORPHA:791
HP:0000563	Keratoconus	157657	CFAP418	ORPHA:791
HP:0000563	Keratoconus	10594	PRPF8	ORPHA:791
HP:0000563	Keratoconus	84100	ARL6	ORPHA:791
HP:0000563	Keratoconus	6295	SAG	ORPHA:791
HP:0000563	Keratoconus	79947	DHDDS	ORPHA:791
HP:0000563	Keratoconus	81031	SLC2A10	OMIM:208050
HP:0000563	Keratoconus	81031	SLC2A10	ORPHA:3342
HP:0000563	Keratoconus	5351	PLOD1	OMIM:225400
HP:0000563	Keratoconus	84627	ZNF469	OMIM:229200
HP:0000563	Keratoconus	6935	ZEB1	OMIM:609141
HP:0000563	Keratoconus	84168	ANTXR1	OMIM:230740
HP:0000563	Keratoconus	84168	ANTXR1	ORPHA:2067
HP:0000563	Keratoconus	30813	VSX1	OMIM:148300
HP:0000563	Keratoconus	406960	MIR184	OMIM:614303
HP:0000563	Keratoconus	63895	PIEZO2	OMIM:108145
HP:0000563	Keratoconus	3265	HRAS	ORPHA:3071
HP:0000563	Keratoconus	4010	LMX1B	OMIM:161200
HP:0000563	Keratoconus	11107	PRDM5	OMIM:614170
HP:0000563	Keratoconus	162	AP1B1	OMIM:242150
HP:0000563	Keratoconus	10681	GNB5	ORPHA:542306
HP:0000563	Keratoconus	113457	TUBA3D	OMIM:617928
HP:0000564	Lacrimal duct atresia	8626	TP63	OMIM:106260
HP:0000564	Lacrimal duct atresia	8626	TP63	OMIM:603543
HP:0000564	Lacrimal duct atresia	8626	TP63	ORPHA:69085
HP:0000564	Lacrimal duct atresia	2261	FGFR3	OMIM:620192
HP:0000564	Lacrimal duct atresia	23347	SMCHD1	OMIM:603457
HP:0000564	Lacrimal duct atresia	5077	PAX3	ORPHA:1529
HP:0000564	Lacrimal duct atresia	54539	NDUFB11	OMIM:300952
HP:0000564	Lacrimal duct atresia	3321	IGSF3	OMIM:149700
HP:0000565	Esotropia	8322	FZD4	OMIM:133780
HP:0000565	Esotropia	4041	LRP5	OMIM:133780
HP:0000565	Esotropia	9949	AMMECR1	OMIM:300990
HP:0000565	Esotropia	6095	RORA	OMIM:618060
HP:0000565	Esotropia	50964	SOST	OMIM:269500
HP:0000565	Esotropia	22827	PUF60	ORPHA:508498
HP:0000565	Esotropia	10128	LRPPRC	OMIM:220111
HP:0000565	Esotropia	340533	NEXMIF	OMIM:300912
HP:0000565	Esotropia	340533	NEXMIF	ORPHA:85277
HP:0000565	Esotropia	6477	SIAH1	OMIM:619314
HP:0000565	Esotropia	5393	EXOSC9	OMIM:618065
HP:0000565	Esotropia	5393	EXOSC9	ORPHA:2254
HP:0000565	Esotropia	1859	DYRK1A	ORPHA:268261
HP:0000565	Esotropia	23135	KDM6B	OMIM:618505
HP:0000565	Esotropia	2895	GRID2	OMIM:616204
HP:0000565	Esotropia	23418	CRB1	OMIM:172870
HP:0000565	Esotropia	50484	RRM2B	ORPHA:329336
HP:0000565	Esotropia	246243	RNASEH1	ORPHA:329336
HP:0000565	Esotropia	22800	RRAS2	OMIM:618624
HP:0000565	Esotropia	51259	TMEM216	OMIM:608091
HP:0000565	Esotropia	51259	TMEM216	ORPHA:2754
HP:0000565	Esotropia	55325	UFSP2	OMIM:620028
HP:0000565	Esotropia	5428	POLG	OMIM:258450
HP:0000565	Esotropia	79796	ALG9	OMIM:608776
HP:0000565	Esotropia	79796	ALG9	ORPHA:79328
HP:0000565	Esotropia	9839	ZEB2	OMIM:235730
HP:0000565	Esotropia	10060	ABCC9	OMIM:619719
HP:0000565	Esotropia	7681	MKRN3	OMIM:176270
HP:0000565	Esotropia	3653	IPW	OMIM:176270
HP:0000565	Esotropia	54551	MAGEL2	OMIM:176270
HP:0000565	Esotropia	54551	MAGEL2	ORPHA:398069
HP:0000565	Esotropia	54551	MAGEL2	OMIM:615547
HP:0000565	Esotropia	791114	PWRN1	OMIM:176270
HP:0000565	Esotropia	100033413	SNORD116-1	OMIM:176270
HP:0000565	Esotropia	8924	HERC2	OMIM:176270
HP:0000565	Esotropia	145624	PWAR1	OMIM:176270
HP:0000565	Esotropia	23742	NPAP1	OMIM:176270
HP:0000565	Esotropia	338433	SNORD115-1	OMIM:176270
HP:0000565	Esotropia	1303	COL12A1	ORPHA:75840
HP:0000565	Esotropia	1291	COL6A1	ORPHA:75840
HP:0000565	Esotropia	1292	COL6A2	ORPHA:75840
HP:0000565	Esotropia	1293	COL6A3	ORPHA:75840
HP:0000565	Esotropia	6720	SREBF1	OMIM:158310
HP:0000565	Esotropia	5575	PRKAR1B	OMIM:619680
HP:0000565	Esotropia	2581	GALC	ORPHA:206443
HP:0000565	Esotropia	388015	RTL1	ORPHA:254528
HP:0000565	Esotropia	8788	DLK1	ORPHA:254528
HP:0000565	Esotropia	55384	MEG3	ORPHA:254528
HP:0000565	Esotropia	51506	UFC1	OMIM:618076
HP:0000565	Esotropia	5830	PEX5	OMIM:202370
HP:0000565	Esotropia	27245	AHDC1	ORPHA:412069
HP:0000565	Esotropia	27245	AHDC1	OMIM:615829
HP:0000565	Esotropia	2782	GNB1	OMIM:616973
HP:0000565	Esotropia	3149	HMGB3	OMIM:300915
HP:0000565	Esotropia	2911	GRM1	OMIM:614831
HP:0000565	Esotropia	2911	GRM1	ORPHA:324262
HP:0000565	Esotropia	10978	CLP1	OMIM:615803
HP:0000565	Esotropia	64221	ROBO3	OMIM:607313
HP:0000565	Esotropia	3778	KCNMA1	ORPHA:79137
HP:0000565	Esotropia	473	RERE	ORPHA:494344
HP:0000565	Esotropia	220202	ATOH7	OMIM:221900
HP:0000565	Esotropia	55777	MBD5	OMIM:156200
HP:0000565	Esotropia	1301	COL11A1	OMIM:154780
HP:0000565	Esotropia	9289	ADGRG1	OMIM:606854
HP:0000565	Esotropia	9289	ADGRG1	ORPHA:101070
HP:0000565	Esotropia	84992	PIGY	ORPHA:247262
HP:0000565	Esotropia	84720	PIGO	ORPHA:247262
HP:0000565	Esotropia	93210	PGAP3	ORPHA:247262
HP:0000565	Esotropia	284098	PIGW	ORPHA:247262
HP:0000565	Esotropia	27315	PGAP2	ORPHA:247262
HP:0000565	Esotropia	55650	PIGV	ORPHA:247262
HP:0000565	Esotropia	9487	PIGL	ORPHA:247262
HP:0000565	Esotropia	9630	GNA14	ORPHA:1063
HP:0000565	Esotropia	56915	EXOSC5	OMIM:619576
HP:0000565	Esotropia	64324	NSD1	OMIM:117550
HP:0000565	Esotropia	2200	FBN1	OMIM:154700
HP:0000565	Esotropia	64207	IRF2BPL	OMIM:618088
HP:0000565	Esotropia	5119	CHMP1A	OMIM:614961
HP:0000565	Esotropia	816	CAMK2B	OMIM:617799
HP:0000565	Esotropia	10381	TUBB3	ORPHA:300570
HP:0000565	Esotropia	29920	PYCR2	ORPHA:481152
HP:0000565	Esotropia	5422	POLA1	OMIM:301030
HP:0000565	Esotropia	191	AHCY	ORPHA:88618
HP:0000565	Esotropia	10484	SEC23A	OMIM:607812
HP:0000565	Esotropia	164	AP1G1	OMIM:619467
HP:0000565	Esotropia	84342	COG8	OMIM:611182
HP:0000565	Esotropia	55714	TENM3	OMIM:615145
HP:0000565	Esotropia	4761	NEUROD2	OMIM:618374
HP:0000565	Esotropia	5144	PDE4D	ORPHA:439822
HP:0000565	Esotropia	23065	EMC1	OMIM:616875
HP:0000565	Esotropia	23065	EMC1	ORPHA:480898
HP:0000565	Esotropia	26227	PHGDH	ORPHA:79351
HP:0000565	Esotropia	6297	SALL2	OMIM:216820
HP:0000565	Esotropia	5373	PMM2	OMIM:212065
HP:0000565	Esotropia	5373	PMM2	ORPHA:79318
HP:0000565	Esotropia	2743	GLRB	OMIM:614619
HP:0000565	Esotropia	7025	NR2F1	ORPHA:401777
HP:0000565	Esotropia	9851	KIAA0753	OMIM:619476
HP:0000565	Esotropia	9851	KIAA0753	ORPHA:2754
HP:0000565	Esotropia	7874	USP7	ORPHA:500055
HP:0000565	Esotropia	57498	KIDINS220	OMIM:617296
HP:0000565	Esotropia	65250	CPLANE1	OMIM:277170
HP:0000565	Esotropia	65250	CPLANE1	ORPHA:2754
HP:0000565	Esotropia	1182	CLCN3	OMIM:619512
HP:0000565	Esotropia	8270	LAGE3	OMIM:301006
HP:0000565	Esotropia	51604	PIGT	OMIM:615398
HP:0000565	Esotropia	5457	POU4F1	OMIM:619352
HP:0000565	Esotropia	55773	TBC1D23	OMIM:617695
HP:0000565	Esotropia	55699	IARS2	OMIM:616007
HP:0000565	Esotropia	8363	H4C11	OMIM:619759
HP:0000565	Esotropia	57514	ARHGAP31	OMIM:100300
HP:0000565	Esotropia	11340	EXOSC8	ORPHA:2254
HP:0000565	Esotropia	23287	AGTPBP1	ORPHA:2254
HP:0000565	Esotropia	51010	EXOSC3	ORPHA:2254
HP:0000565	Esotropia	7443	VRK1	ORPHA:2254
HP:0000565	Esotropia	91137	SLC25A46	ORPHA:2254
HP:0000565	Esotropia	285175	UNC80	OMIM:616801
HP:0000565	Esotropia	285175	UNC80	ORPHA:371364
HP:0000565	Esotropia	3211	HOXB1	OMIM:614744
HP:0000565	Esotropia	259232	NALCN	ORPHA:371364
HP:0000565	Esotropia	259232	NALCN	OMIM:616266
HP:0000565	Esotropia	773	CACNA1A	ORPHA:2131
HP:0000565	Esotropia	773	CACNA1A	OMIM:617106
HP:0000565	Esotropia	6507	SLC1A3	ORPHA:2131
HP:0000565	Esotropia	477	ATP1A2	ORPHA:2131
HP:0000565	Esotropia	478	ATP1A3	ORPHA:2131
HP:0000565	Esotropia	1528	CYB5A	ORPHA:621
HP:0000565	Esotropia	1727	CYB5R3	ORPHA:621
HP:0000565	Esotropia	5728	PTEN	ORPHA:101070
HP:0000565	Esotropia	85365	ALG2	ORPHA:79326
HP:0000565	Esotropia	2255	FGF10	OMIM:620193
HP:0000565	Esotropia	10682	EBP	OMIM:300960
HP:0000565	Esotropia	55210	ATAD3A	ORPHA:496790
HP:0000565	Esotropia	55210	ATAD3A	OMIM:617183
HP:0000565	Esotropia	23556	PIGN	ORPHA:280633
HP:0000565	Esotropia	8567	MADD	OMIM:619004
HP:0000565	Esotropia	6857	SYT1	ORPHA:522077
HP:0000565	Esotropia	84343	HPS3	OMIM:614072
HP:0000565	Esotropia	388552	BLOC1S3	OMIM:614077
HP:0000565	Esotropia	56098	PCDHGC4	OMIM:619880
HP:0000565	Esotropia	113179	ADAT3	OMIM:615286
HP:0000565	Esotropia	57688	ZSWIM6	OMIM:617865
HP:0000565	Esotropia	163175	LGI4	OMIM:617468
HP:0000565	Esotropia	60482	SLC5A7	ORPHA:98914
HP:0000565	Esotropia	4649	MYO9A	ORPHA:98914
HP:0000565	Esotropia	1305	COL13A1	ORPHA:98914
HP:0000565	Esotropia	1103	CHAT	ORPHA:98914
HP:0000565	Esotropia	6576	SLC25A1	ORPHA:98914
HP:0000565	Esotropia	6843	VAMP1	ORPHA:98914
HP:0000565	Esotropia	375790	AGRN	ORPHA:98914
HP:0000565	Esotropia	127833	SYT2	ORPHA:98914
HP:0000565	Esotropia	6572	SLC18A3	ORPHA:98914
HP:0000565	Esotropia	6616	SNAP25	ORPHA:98914
HP:0000565	Esotropia	471	ATIC	OMIM:608688
HP:0000565	Esotropia	84628	NTNG2	OMIM:618718
HP:0000565	Esotropia	1650	DDOST	ORPHA:300536
HP:0000565	Esotropia	5295	PIK3R1	OMIM:269880
HP:0000565	Esotropia	54802	TRIT1	OMIM:617873
HP:0000565	Esotropia	23154	NCDN	OMIM:619373
HP:0000565	Esotropia	6651	SON	ORPHA:500150
HP:0000565	Esotropia	55084	SOBP	OMIM:613671
HP:0000565	Esotropia	1284	COL4A2	OMIM:614483
HP:0000565	Esotropia	83938	LRMDA	OMIM:615179
HP:0000565	Esotropia	11152	WDR45	OMIM:615179
HP:0000565	Esotropia	84168	ANTXR1	OMIM:230740
HP:0000565	Esotropia	7994	KAT6A	OMIM:616268
HP:0000565	Esotropia	23219	FBXO28	OMIM:619777
HP:0000565	Esotropia	2961	GTF2E2	OMIM:616943
HP:0000565	Esotropia	2961	GTF2E2	ORPHA:33364
HP:0000565	Esotropia	404672	GTF2H5	ORPHA:33364
HP:0000565	Esotropia	833	CARS1	ORPHA:33364
HP:0000565	Esotropia	2068	ERCC2	ORPHA:33364
HP:0000565	Esotropia	7737	RNF113A	ORPHA:33364
HP:0000565	Esotropia	136647	MPLKIP	ORPHA:33364
HP:0000565	Esotropia	6897	TARS1	ORPHA:33364
HP:0000565	Esotropia	2071	ERCC3	ORPHA:33364
HP:0000565	Esotropia	8813	DPM1	ORPHA:79322
HP:0000565	Esotropia	10210	TOPORS	ORPHA:2754
HP:0000565	Esotropia	26123	TCTN3	ORPHA:2754
HP:0000565	Esotropia	5147	PDE6D	ORPHA:2754
HP:0000565	Esotropia	8481	OFD1	ORPHA:2754
HP:0000565	Esotropia	317662	FAM149B1	ORPHA:2754
HP:0000565	Esotropia	374654	KIF7	ORPHA:2754
HP:0000565	Esotropia	84978	FRMD5	OMIM:620094
HP:0000565	Esotropia	9469	CHST3	OMIM:245600
HP:0000565	Esotropia	26229	B3GAT3	OMIM:245600
HP:0000565	Esotropia	129285	PPP1R21	OMIM:619383
HP:0000565	Esotropia	2629	GBA1	OMIM:230900
HP:0000565	Esotropia	23102	TBC1D2B	ORPHA:397973
HP:0000565	Esotropia	84842	HPDL	OMIM:619026
HP:0000565	Esotropia	55367	PIDD1	OMIM:619827
HP:0000565	Esotropia	5813	PURA	OMIM:616158
HP:0000565	Esotropia	84148	KAT8	OMIM:618974
HP:0000565	Esotropia	4654	MYOD1	OMIM:618975
HP:0000565	Esotropia	6935	ZEB1	ORPHA:98973
HP:0000565	Esotropia	30813	VSX1	ORPHA:98973
HP:0000565	Esotropia	58495	OVOL2	ORPHA:98973
HP:0000565	Esotropia	79977	GRHL2	ORPHA:98973
HP:0000565	Esotropia	1296	COL8A2	ORPHA:98973
HP:0000565	Esotropia	9990	SLC12A6	OMIM:218000
HP:0000565	Esotropia	10075	HUWE1	OMIM:309590
HP:0000565	Esotropia	1804	DPP6	ORPHA:2514
HP:0000565	Esotropia	4001	LMNB1	ORPHA:2514
HP:0000565	Esotropia	1185	CLCN6	OMIM:619173
HP:0000565	Esotropia	8777	MPDZ	OMIM:615219
HP:0000565	Esotropia	324	APC	ORPHA:99818
HP:0000565	Esotropia	146167	SLC38A8	OMIM:609218
HP:0000565	Esotropia	9578	CDC42BPB	OMIM:619841
HP:0000565	Esotropia	5528	PPP2R5D	ORPHA:457279
HP:0000565	Esotropia	92255	LMBRD2	OMIM:619694
HP:0000565	Esotropia	6899	TBX1	OMIM:188400
HP:0000565	Esotropia	10093	ARPC4	OMIM:620141
HP:0000565	Esotropia	55605	KIF21A	OMIM:135700
HP:0000565	Esotropia	9968	MED12	OMIM:301068
HP:0000568	Microphthalmia	10682	EBP	ORPHA:401973
HP:0000568	Microphthalmia	10682	EBP	ORPHA:35173
HP:0000568	Microphthalmia	10682	EBP	OMIM:302960
HP:0000568	Microphthalmia	1409	CRYAA	OMIM:604219
HP:0000568	Microphthalmia	341640	FREM2	ORPHA:2052
HP:0000568	Microphthalmia	341640	FREM2	OMIM:617666
HP:0000568	Microphthalmia	341640	FREM2	OMIM:123570
HP:0000568	Microphthalmia	80144	FRAS1	ORPHA:2052
HP:0000568	Microphthalmia	23426	GRIP1	ORPHA:2052
HP:0000568	Microphthalmia	3265	HRAS	ORPHA:2612
HP:0000568	Microphthalmia	3845	KRAS	ORPHA:2612
HP:0000568	Microphthalmia	4893	NRAS	ORPHA:2612
HP:0000568	Microphthalmia	1161	ERCC8	ORPHA:90324
HP:0000568	Microphthalmia	2074	ERCC6	ORPHA:90324
HP:0000568	Microphthalmia	2074	ERCC6	OMIM:214150
HP:0000568	Microphthalmia	2074	ERCC6	OMIM:133540
HP:0000568	Microphthalmia	2074	ERCC6	ORPHA:1466
HP:0000568	Microphthalmia	220	ALDH1A3	OMIM:615113
HP:0000568	Microphthalmia	220	ALDH1A3	ORPHA:35612
HP:0000568	Microphthalmia	83700	JAM3	OMIM:613730
HP:0000568	Microphthalmia	23556	PIGN	ORPHA:2059
HP:0000568	Microphthalmia	81857	MED25	OMIM:616449
HP:0000568	Microphthalmia	81857	MED25	ORPHA:464738
HP:0000568	Microphthalmia	55624	POMGNT1	OMIM:253280
HP:0000568	Microphthalmia	55624	POMGNT1	ORPHA:899
HP:0000568	Microphthalmia	55624	POMGNT1	ORPHA:370959
HP:0000568	Microphthalmia	84942	WDR73	OMIM:251300
HP:0000568	Microphthalmia	4693	NDP	OMIM:310600
HP:0000568	Microphthalmia	4693	NDP	ORPHA:91495
HP:0000568	Microphthalmia	4693	NDP	ORPHA:891
HP:0000568	Microphthalmia	4693	NDP	ORPHA:649
HP:0000568	Microphthalmia	4693	NDP	OMIM:305390
HP:0000568	Microphthalmia	10992	SF3B2	OMIM:164210
HP:0000568	Microphthalmia	9839	ZEB2	OMIM:235730
HP:0000568	Microphthalmia	9839	ZEB2	ORPHA:261552
HP:0000568	Microphthalmia	9839	ZEB2	ORPHA:261537
HP:0000568	Microphthalmia	55209	SETD5	ORPHA:404440
HP:0000568	Microphthalmia	9401	RECQL4	OMIM:268400
HP:0000568	Microphthalmia	146167	SLC38A8	OMIM:609218
HP:0000568	Microphthalmia	5932	RBBP8	OMIM:606744
HP:0000568	Microphthalmia	2073	ERCC5	OMIM:616570
HP:0000568	Microphthalmia	2073	ERCC5	OMIM:278780
HP:0000568	Microphthalmia	2073	ERCC5	ORPHA:1466
HP:0000568	Microphthalmia	2175	FANCA	OMIM:227650
HP:0000568	Microphthalmia	2175	FANCA	ORPHA:84
HP:0000568	Microphthalmia	23322	RPGRIP1L	OMIM:611561
HP:0000568	Microphthalmia	23322	RPGRIP1L	ORPHA:564
HP:0000568	Microphthalmia	84892	POMGNT2	OMIM:614830
HP:0000568	Microphthalmia	84892	POMGNT2	ORPHA:899
HP:0000568	Microphthalmia	27229	TUBGCP4	OMIM:616335
HP:0000568	Microphthalmia	25914	RTTN	OMIM:614833
HP:0000568	Microphthalmia	3149	HMGB3	OMIM:300915
HP:0000568	Microphthalmia	84197	POMK	OMIM:615249
HP:0000568	Microphthalmia	84197	POMK	ORPHA:899
HP:0000568	Microphthalmia	84197	POMK	ORPHA:370959
HP:0000568	Microphthalmia	6595	SMARCA2	ORPHA:2728
HP:0000568	Microphthalmia	25782	RAB3GAP2	OMIM:212720
HP:0000568	Microphthalmia	25782	RAB3GAP2	OMIM:614225
HP:0000568	Microphthalmia	25782	RAB3GAP2	ORPHA:2510
HP:0000568	Microphthalmia	4286	MITF	OMIM:617306
HP:0000568	Microphthalmia	9723	SEMA3E	ORPHA:138
HP:0000568	Microphthalmia	2188	FANCF	OMIM:603467
HP:0000568	Microphthalmia	2188	FANCF	ORPHA:84
HP:0000568	Microphthalmia	84987	COX14	OMIM:619053
HP:0000568	Microphthalmia	220202	ATOH7	OMIM:221900
HP:0000568	Microphthalmia	220202	ATOH7	ORPHA:91495
HP:0000568	Microphthalmia	23418	CRB1	ORPHA:35612
HP:0000568	Microphthalmia	7439	BEST1	ORPHA:35612
HP:0000568	Microphthalmia	7439	BEST1	OMIM:193220
HP:0000568	Microphthalmia	26022	TMEM98	ORPHA:35612
HP:0000568	Microphthalmia	26022	TMEM98	OMIM:615972
HP:0000568	Microphthalmia	6657	SOX2	ORPHA:35612
HP:0000568	Microphthalmia	6657	SOX2	ORPHA:77298
HP:0000568	Microphthalmia	6657	SOX2	OMIM:206900
HP:0000568	Microphthalmia	646960	PRSS56	ORPHA:35612
HP:0000568	Microphthalmia	646960	PRSS56	OMIM:613517
HP:0000568	Microphthalmia	83552	MFRP	ORPHA:35612
HP:0000568	Microphthalmia	83552	MFRP	OMIM:609549
HP:0000568	Microphthalmia	83552	MFRP	OMIM:611040
HP:0000568	Microphthalmia	30062	RAX	ORPHA:35612
HP:0000568	Microphthalmia	30062	RAX	OMIM:611038
HP:0000568	Microphthalmia	5015	OTX2	ORPHA:35612
HP:0000568	Microphthalmia	5015	OTX2	OMIM:610125
HP:0000568	Microphthalmia	4990	SIX6	ORPHA:35612
HP:0000568	Microphthalmia	4990	SIX6	OMIM:212550
HP:0000568	Microphthalmia	4990	SIX6	OMIM:206900
HP:0000568	Microphthalmia	54880	BCOR	ORPHA:2712
HP:0000568	Microphthalmia	54880	BCOR	OMIM:309800
HP:0000568	Microphthalmia	54880	BCOR	ORPHA:568
HP:0000568	Microphthalmia	54880	BCOR	OMIM:300166
HP:0000568	Microphthalmia	2301	FOXE3	ORPHA:83461
HP:0000568	Microphthalmia	2301	FOXE3	OMIM:610256
HP:0000568	Microphthalmia	158326	FREM1	ORPHA:2717
HP:0000568	Microphthalmia	158326	FREM1	OMIM:248450
HP:0000568	Microphthalmia	672	BRCA1	ORPHA:84
HP:0000568	Microphthalmia	672	BRCA1	OMIM:617883
HP:0000568	Microphthalmia	10459	MAD2L2	ORPHA:84
HP:0000568	Microphthalmia	7516	XRCC2	ORPHA:84
HP:0000568	Microphthalmia	29089	UBE2T	ORPHA:84
HP:0000568	Microphthalmia	675	BRCA2	ORPHA:84
HP:0000568	Microphthalmia	55120	FANCL	ORPHA:84
HP:0000568	Microphthalmia	55120	FANCL	OMIM:614083
HP:0000568	Microphthalmia	2177	FANCD2	ORPHA:84
HP:0000568	Microphthalmia	2177	FANCD2	OMIM:227646
HP:0000568	Microphthalmia	2187	FANCB	ORPHA:84
HP:0000568	Microphthalmia	2187	FANCB	ORPHA:3412
HP:0000568	Microphthalmia	2176	FANCC	ORPHA:84
HP:0000568	Microphthalmia	2176	FANCC	OMIM:227645
HP:0000568	Microphthalmia	2178	FANCE	ORPHA:84
HP:0000568	Microphthalmia	2178	FANCE	OMIM:600901
HP:0000568	Microphthalmia	2189	FANCG	ORPHA:84
HP:0000568	Microphthalmia	2189	FANCG	OMIM:614082
HP:0000568	Microphthalmia	5888	RAD51	ORPHA:84
HP:0000568	Microphthalmia	5888	RAD51	OMIM:617244
HP:0000568	Microphthalmia	5889	RAD51C	ORPHA:84
HP:0000568	Microphthalmia	55159	RFWD3	ORPHA:84
HP:0000568	Microphthalmia	83990	BRIP1	ORPHA:84
HP:0000568	Microphthalmia	83990	BRIP1	OMIM:609054
HP:0000568	Microphthalmia	57697	FANCM	ORPHA:84
HP:0000568	Microphthalmia	79728	PALB2	ORPHA:84
HP:0000568	Microphthalmia	84464	SLX4	ORPHA:84
HP:0000568	Microphthalmia	2072	ERCC4	ORPHA:84
HP:0000568	Microphthalmia	55215	FANCI	ORPHA:84
HP:0000568	Microphthalmia	55215	FANCI	OMIM:609053
HP:0000568	Microphthalmia	7020	TFAP2A	OMIM:113620
HP:0000568	Microphthalmia	23116	TOGARAM1	OMIM:619185
HP:0000568	Microphthalmia	23347	SMCHD1	OMIM:603457
HP:0000568	Microphthalmia	23347	SMCHD1	ORPHA:2250
HP:0000568	Microphthalmia	9896	FIG4	ORPHA:3472
HP:0000568	Microphthalmia	55697	VAC14	ORPHA:3472
HP:0000568	Microphthalmia	652	BMP4	OMIM:607932
HP:0000568	Microphthalmia	652	BMP4	ORPHA:139471
HP:0000568	Microphthalmia	9184	BUB3	ORPHA:1052
HP:0000568	Microphthalmia	699	BUB1	ORPHA:1052
HP:0000568	Microphthalmia	9702	CEP57	ORPHA:1052
HP:0000568	Microphthalmia	9319	TRIP13	ORPHA:1052
HP:0000568	Microphthalmia	701	BUB1B	ORPHA:1052
HP:0000568	Microphthalmia	22884	WDR37	OMIM:618652
HP:0000568	Microphthalmia	55714	TENM3	OMIM:615145
HP:0000568	Microphthalmia	56992	KIF15	OMIM:619981
HP:0000568	Microphthalmia	79867	TCTN2	OMIM:613885
HP:0000568	Microphthalmia	79867	TCTN2	ORPHA:564
HP:0000568	Microphthalmia	57167	SALL4	ORPHA:959
HP:0000568	Microphthalmia	57167	SALL4	OMIM:607323
HP:0000568	Microphthalmia	64132	XYLT2	ORPHA:85194
HP:0000568	Microphthalmia	25942	SIN3A	OMIM:613406
HP:0000568	Microphthalmia	10716	TBR1	ORPHA:1617
HP:0000568	Microphthalmia	2697	GJA1	OMIM:164200
HP:0000568	Microphthalmia	2697	GJA1	OMIM:257850
HP:0000568	Microphthalmia	63901	FAM111A	OMIM:602361
HP:0000568	Microphthalmia	63901	FAM111A	OMIM:127000
HP:0000568	Microphthalmia	26227	PHGDH	OMIM:256520
HP:0000568	Microphthalmia	11081	KERA	OMIM:217300
HP:0000568	Microphthalmia	392255	GDF6	OMIM:613094
HP:0000568	Microphthalmia	8260	NAA10	OMIM:309800
HP:0000568	Microphthalmia	8260	NAA10	ORPHA:568
HP:0000568	Microphthalmia	6905	TBCE	OMIM:241410
HP:0000568	Microphthalmia	6608	SMO	OMIM:601707
HP:0000568	Microphthalmia	6608	SMO	ORPHA:1553
HP:0000568	Microphthalmia	1349	COX7B	OMIM:309801
HP:0000568	Microphthalmia	1349	COX7B	OMIM:300887
HP:0000568	Microphthalmia	1349	COX7B	ORPHA:2556
HP:0000568	Microphthalmia	3052	HCCS	OMIM:309801
HP:0000568	Microphthalmia	3052	HCCS	ORPHA:2556
HP:0000568	Microphthalmia	54539	NDUFB11	OMIM:309801
HP:0000568	Microphthalmia	54539	NDUFB11	ORPHA:2556
HP:0000568	Microphthalmia	54539	NDUFB11	OMIM:300952
HP:0000568	Microphthalmia	56006	SMG9	OMIM:616920
HP:0000568	Microphthalmia	4519	MT-CYB	ORPHA:137675
HP:0000568	Microphthalmia	10013	HDAC6	ORPHA:163966
HP:0000568	Microphthalmia	10013	HDAC6	OMIM:300863
HP:0000568	Microphthalmia	79770	TXNDC15	OMIM:619879
HP:0000568	Microphthalmia	79770	TXNDC15	ORPHA:564
HP:0000568	Microphthalmia	1282	COL4A1	OMIM:175780
HP:0000568	Microphthalmia	1282	COL4A1	ORPHA:899
HP:0000568	Microphthalmia	4952	OCRL	OMIM:309000
HP:0000568	Microphthalmia	4952	OCRL	ORPHA:534
HP:0000568	Microphthalmia	157570	ESCO2	ORPHA:3103
HP:0000568	Microphthalmia	157570	ESCO2	OMIM:268300
HP:0000568	Microphthalmia	8085	KMT2D	OMIM:620186
HP:0000568	Microphthalmia	23137	SMC5	OMIM:620185
HP:0000568	Microphthalmia	8517	IKBKG	ORPHA:464
HP:0000568	Microphthalmia	8517	IKBKG	OMIM:308300
HP:0000568	Microphthalmia	5727	PTCH1	OMIM:610828
HP:0000568	Microphthalmia	5727	PTCH1	OMIM:109400
HP:0000568	Microphthalmia	5727	PTCH1	ORPHA:77301
HP:0000568	Microphthalmia	2736	GLI2	OMIM:610829
HP:0000568	Microphthalmia	79718	TBL1XR1	OMIM:602342
HP:0000568	Microphthalmia	79718	TBL1XR1	ORPHA:487825
HP:0000568	Microphthalmia	4089	SMAD4	OMIM:139210
HP:0000568	Microphthalmia	5159	PDGFRB	OMIM:601812
HP:0000568	Microphthalmia	7837	PXDN	OMIM:269400
HP:0000568	Microphthalmia	63895	PIEZO2	OMIM:248700
HP:0000568	Microphthalmia	64220	STRA6	ORPHA:2470
HP:0000568	Microphthalmia	5915	RARB	ORPHA:2470
HP:0000568	Microphthalmia	5915	RARB	OMIM:615524
HP:0000568	Microphthalmia	9968	MED12	OMIM:300895
HP:0000568	Microphthalmia	285203	EOGT	OMIM:615297
HP:0000568	Microphthalmia	285203	EOGT	ORPHA:974
HP:0000568	Microphthalmia	57479	PRR12	OMIM:619539
HP:0000568	Microphthalmia	729920	CRPPA	OMIM:614643
HP:0000568	Microphthalmia	729920	CRPPA	ORPHA:899
HP:0000568	Microphthalmia	80184	CEP290	OMIM:611134
HP:0000568	Microphthalmia	80184	CEP290	ORPHA:564
HP:0000568	Microphthalmia	9928	KIF14	OMIM:617914
HP:0000568	Microphthalmia	11023	VAX1	OMIM:614402
HP:0000568	Microphthalmia	93426	SYCE1	OMIM:616947
HP:0000568	Microphthalmia	3166	HMX1	OMIM:612109
HP:0000568	Microphthalmia	6513	SLC2A1	ORPHA:1942
HP:0000568	Microphthalmia	8831	SYNGAP1	ORPHA:1942
HP:0000568	Microphthalmia	1173	AP2M1	ORPHA:1942
HP:0000568	Microphthalmia	6323	SCN1A	ORPHA:1942
HP:0000568	Microphthalmia	340533	NEXMIF	ORPHA:1942
HP:0000568	Microphthalmia	1106	CHD2	ORPHA:1942
HP:0000568	Microphthalmia	6529	SLC6A1	ORPHA:1942
HP:0000568	Microphthalmia	2260	FGFR1	ORPHA:2117
HP:0000568	Microphthalmia	2260	FGFR1	OMIM:613001
HP:0000568	Microphthalmia	257	ALX3	OMIM:136760
HP:0000568	Microphthalmia	257	ALX3	ORPHA:391474
HP:0000568	Microphthalmia	148789	B3GALNT2	OMIM:615181
HP:0000568	Microphthalmia	148789	B3GALNT2	ORPHA:899
HP:0000568	Microphthalmia	404672	GTF2H5	OMIM:616395
HP:0000568	Microphthalmia	54903	MKS1	OMIM:249000
HP:0000568	Microphthalmia	54903	MKS1	ORPHA:564
HP:0000568	Microphthalmia	54101	RIPK4	OMIM:263650
HP:0000568	Microphthalmia	60529	ALX4	ORPHA:228390
HP:0000568	Microphthalmia	60529	ALX4	OMIM:613451
HP:0000568	Microphthalmia	26173	INTS1	OMIM:618571
HP:0000568	Microphthalmia	2303	FOXC2	OMIM:153400
HP:0000568	Microphthalmia	2702	GJA5	OMIM:612474
HP:0000568	Microphthalmia	2703	GJA8	OMIM:612474
HP:0000568	Microphthalmia	27152	INTU	OMIM:617925
HP:0000568	Microphthalmia	3720	JARID2	OMIM:620098
HP:0000568	Microphthalmia	2737	GLI3	ORPHA:672
HP:0000568	Microphthalmia	2737	GLI3	OMIM:146510
HP:0000568	Microphthalmia	22827	PUF60	ORPHA:508498
HP:0000568	Microphthalmia	160418	TMTC3	OMIM:617255
HP:0000568	Microphthalmia	8092	ALX1	OMIM:613456
HP:0000568	Microphthalmia	8092	ALX1	ORPHA:306542
HP:0000568	Microphthalmia	65062	TMEM237	OMIM:614424
HP:0000568	Microphthalmia	65062	TMEM237	ORPHA:564
HP:0000568	Microphthalmia	10586	MAB21L2	OMIM:615877
HP:0000568	Microphthalmia	51259	TMEM216	OMIM:608091
HP:0000568	Microphthalmia	51259	TMEM216	OMIM:603194
HP:0000568	Microphthalmia	51259	TMEM216	ORPHA:564
HP:0000568	Microphthalmia	5309	PITX3	OMIM:610623
HP:0000568	Microphthalmia	8322	FZD4	ORPHA:91495
HP:0000568	Microphthalmia	8322	FZD4	ORPHA:891
HP:0000568	Microphthalmia	7473	WNT3	ORPHA:3301
HP:0000568	Microphthalmia	7473	WNT3	OMIM:273395
HP:0000568	Microphthalmia	340419	RSPO2	ORPHA:3301
HP:0000568	Microphthalmia	23384	SPECC1L	OMIM:600251
HP:0000568	Microphthalmia	170302	ARX	OMIM:308350
HP:0000568	Microphthalmia	10733	PLK4	OMIM:616171
HP:0000568	Microphthalmia	473	RERE	OMIM:616975
HP:0000568	Microphthalmia	473	RERE	ORPHA:494344
HP:0000568	Microphthalmia	1806	DPYD	OMIM:274270
HP:0000568	Microphthalmia	23291	FBXW11	OMIM:618914
HP:0000568	Microphthalmia	79644	SRD5A3	OMIM:612379
HP:0000568	Microphthalmia	10413	YAP1	ORPHA:1473
HP:0000568	Microphthalmia	10413	YAP1	OMIM:120433
HP:0000568	Microphthalmia	387700	SLC16A12	OMIM:612018
HP:0000568	Microphthalmia	10982	MAPRE2	OMIM:616734
HP:0000568	Microphthalmia	10982	MAPRE2	ORPHA:2505
HP:0000568	Microphthalmia	4041	LRP5	OMIM:259770
HP:0000568	Microphthalmia	4041	LRP5	ORPHA:2788
HP:0000568	Microphthalmia	4041	LRP5	ORPHA:891
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:610756
HP:0000568	Microphthalmia	2068	ERCC2	ORPHA:1466
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:601675
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:278730
HP:0000568	Microphthalmia	29954	POMT2	OMIM:236670
HP:0000568	Microphthalmia	29954	POMT2	ORPHA:899
HP:0000568	Microphthalmia	29954	POMT2	ORPHA:370959
HP:0000568	Microphthalmia	29954	POMT2	OMIM:613150
HP:0000568	Microphthalmia	9215	LARGE1	OMIM:236670
HP:0000568	Microphthalmia	9215	LARGE1	ORPHA:899
HP:0000568	Microphthalmia	79147	FKRP	OMIM:236670
HP:0000568	Microphthalmia	79147	FKRP	ORPHA:899
HP:0000568	Microphthalmia	79147	FKRP	ORPHA:370959
HP:0000568	Microphthalmia	79147	FKRP	OMIM:613153
HP:0000568	Microphthalmia	10585	POMT1	OMIM:236670
HP:0000568	Microphthalmia	10585	POMT1	ORPHA:899
HP:0000568	Microphthalmia	10585	POMT1	ORPHA:370959
HP:0000568	Microphthalmia	10585	POMT1	OMIM:613155
HP:0000568	Microphthalmia	2218	FKTN	OMIM:236670
HP:0000568	Microphthalmia	2218	FKTN	ORPHA:899
HP:0000568	Microphthalmia	2218	FKTN	OMIM:253800
HP:0000568	Microphthalmia	10329	RXYLT1	ORPHA:899
HP:0000568	Microphthalmia	1605	DAG1	ORPHA:899
HP:0000568	Microphthalmia	1605	DAG1	OMIM:616538
HP:0000568	Microphthalmia	11041	B4GAT1	ORPHA:899
HP:0000568	Microphthalmia	4810	NHS	OMIM:302350
HP:0000568	Microphthalmia	4810	NHS	ORPHA:627
HP:0000568	Microphthalmia	22930	RAB3GAP1	OMIM:600118
HP:0000568	Microphthalmia	22930	RAB3GAP1	ORPHA:2510
HP:0000568	Microphthalmia	203068	TUBB	OMIM:615771
HP:0000568	Microphthalmia	203068	TUBB	OMIM:156610
HP:0000568	Microphthalmia	203068	TUBB	ORPHA:2505
HP:0000568	Microphthalmia	92255	LMBRD2	OMIM:619694
HP:0000568	Microphthalmia	2067	ERCC1	ORPHA:1466
HP:0000568	Microphthalmia	5925	RB1	ORPHA:1587
HP:0000568	Microphthalmia	23511	NUP188	OMIM:618804
HP:0000568	Microphthalmia	26007	TKFC	OMIM:618805
HP:0000568	Microphthalmia	1147	CHUK	OMIM:619339
HP:0000568	Microphthalmia	2248	FGF3	ORPHA:2791
HP:0000568	Microphthalmia	1063	CENPF	OMIM:243605
HP:0000568	Microphthalmia	3913	LAMB2	OMIM:609049
HP:0000568	Microphthalmia	1312	COMT	ORPHA:567
HP:0000568	Microphthalmia	221037	JMJD1C	ORPHA:567
HP:0000568	Microphthalmia	2812	GP1BB	ORPHA:567
HP:0000568	Microphthalmia	6239	RREB1	ORPHA:567
HP:0000568	Microphthalmia	6899	TBX1	ORPHA:567
HP:0000568	Microphthalmia	7290	HIRA	ORPHA:567
HP:0000568	Microphthalmia	9632	SEC24C	ORPHA:567
HP:0000568	Microphthalmia	7353	UFD1	ORPHA:567
HP:0000568	Microphthalmia	421	ARVCF	ORPHA:567
HP:0000568	Microphthalmia	64093	SMOC1	ORPHA:1106
HP:0000568	Microphthalmia	64093	SMOC1	OMIM:206920
HP:0000568	Microphthalmia	444	ASPH	OMIM:601552
HP:0000568	Microphthalmia	84314	TMEM107	ORPHA:564
HP:0000568	Microphthalmia	26123	TCTN3	ORPHA:564
HP:0000568	Microphthalmia	80776	B9D2	ORPHA:564
HP:0000568	Microphthalmia	79600	TCTN1	ORPHA:564
HP:0000568	Microphthalmia	57096	RPGRIP1	ORPHA:564
HP:0000568	Microphthalmia	79848	CSPP1	ORPHA:564
HP:0000568	Microphthalmia	57545	CC2D2A	ORPHA:564
HP:0000568	Microphthalmia	79583	TMEM231	ORPHA:564
HP:0000568	Microphthalmia	91147	TMEM67	ORPHA:564
HP:0000568	Microphthalmia	27077	B9D1	ORPHA:564
HP:0000568	Microphthalmia	338917	VSX2	OMIM:610092
HP:0000568	Microphthalmia	338917	VSX2	OMIM:610093
HP:0000568	Microphthalmia	1822	ATN1	OMIM:618494
HP:0000568	Microphthalmia	5147	PDE6D	OMIM:615665
HP:0000568	Microphthalmia	128637	TBC1D20	OMIM:615663
HP:0000568	Microphthalmia	128637	TBC1D20	ORPHA:2510
HP:0000568	Microphthalmia	2071	ERCC3	OMIM:610651
HP:0000568	Microphthalmia	55644	OSGEP	OMIM:617729
HP:0000568	Microphthalmia	57572	DOCK6	OMIM:614219
HP:0000568	Microphthalmia	57572	DOCK6	ORPHA:974
HP:0000568	Microphthalmia	29980	DONSON	OMIM:251230
HP:0000568	Microphthalmia	60	ACTB	OMIM:243310
HP:0000568	Microphthalmia	668	FOXL2	OMIM:110100
HP:0000568	Microphthalmia	64840	PORCN	OMIM:305600
HP:0000568	Microphthalmia	64840	PORCN	ORPHA:2092
HP:0000568	Microphthalmia	157680	VPS13B	ORPHA:193
HP:0000568	Microphthalmia	71	ACTG1	OMIM:614583
HP:0000568	Microphthalmia	9150	CTDP1	ORPHA:48431
HP:0000568	Microphthalmia	22931	RAB18	OMIM:614222
HP:0000568	Microphthalmia	22931	RAB18	ORPHA:2510
HP:0000568	Microphthalmia	29957	SLC25A24	OMIM:612289
HP:0000568	Microphthalmia	57514	ARHGAP31	OMIM:100300
HP:0000568	Microphthalmia	57514	ARHGAP31	ORPHA:974
HP:0000568	Microphthalmia	4329	ALDH6A1	OMIM:614105
HP:0000568	Microphthalmia	6469	SHH	OMIM:611638
HP:0000568	Microphthalmia	6469	SHH	OMIM:147250
HP:0000568	Microphthalmia	84172	POLR1B	ORPHA:861
HP:0000568	Microphthalmia	9533	POLR1C	ORPHA:861
HP:0000568	Microphthalmia	51082	POLR1D	ORPHA:861
HP:0000568	Microphthalmia	6949	TCOF1	ORPHA:861
HP:0000568	Microphthalmia	29925	GMPPB	ORPHA:370959
HP:0000568	Microphthalmia	136647	MPLKIP	OMIM:234050
HP:0000568	Microphthalmia	5290	PIK3CA	OMIM:602501
HP:0000568	Microphthalmia	374879	ZNF699	OMIM:619488
HP:0000568	Microphthalmia	5130	PCYT1A	ORPHA:85167
HP:0000568	Microphthalmia	3832	KIF11	ORPHA:2526
HP:0000568	Microphthalmia	3832	KIF11	OMIM:152950
HP:0000568	Microphthalmia	6299	SALL1	ORPHA:857
HP:0000568	Microphthalmia	51339	DACT1	ORPHA:857
HP:0000568	Microphthalmia	9573	GDF3	OMIM:613704
HP:0000568	Microphthalmia	3516	RBPJ	ORPHA:974
HP:0000568	Microphthalmia	4851	NOTCH1	ORPHA:974
HP:0000568	Microphthalmia	54567	DLL4	ORPHA:974
HP:0000568	Microphthalmia	113246	C12orf57	OMIM:218340
HP:0000568	Microphthalmia	5264	PHYH	ORPHA:773
HP:0000568	Microphthalmia	5191	PEX7	ORPHA:773
HP:0000568	Microphthalmia	1499	CTNNB1	ORPHA:891
HP:0000568	Microphthalmia	23554	TSPAN12	ORPHA:891
HP:0000568	Microphthalmia	79797	ZNF408	ORPHA:891
HP:0000568	Microphthalmia	10084	PQBP1	OMIM:309500
HP:0000568	Microphthalmia	57020	VPS35L	OMIM:619135
HP:0000568	Microphthalmia	153241	CEP120	OMIM:616300
HP:0000568	Microphthalmia	51360	MBTPS2	ORPHA:85284
HP:0000568	Microphthalmia	387	RHOA	OMIM:618727
HP:0000568	Microphthalmia	5950	RBP4	OMIM:616428
HP:0000568	Microphthalmia	5557	PRIM1	OMIM:620005
HP:0000568	Microphthalmia	219844	HYLS1	OMIM:236680
HP:0000568	Microphthalmia	219844	HYLS1	ORPHA:2189
HP:0000568	Microphthalmia	6496	SIX3	OMIM:157170
HP:0000568	Microphthalmia	5076	PAX2	OMIM:120330
HP:0000568	Microphthalmia	6913	TBX15	OMIM:260660
HP:0000568	Microphthalmia	85378	TUBGCP6	OMIM:251270
HP:0000568	Microphthalmia	10058	ABCB6	OMIM:614497
HP:0000568	Microphthalmia	374654	KIF7	ORPHA:2189
HP:0000568	Microphthalmia	833	CARS1	ORPHA:33364
HP:0000568	Microphthalmia	7737	RNF113A	ORPHA:33364
HP:0000568	Microphthalmia	6897	TARS1	ORPHA:33364
HP:0000568	Microphthalmia	2961	GTF2E2	ORPHA:33364
HP:0000568	Microphthalmia	23389	MED13L	ORPHA:369891
HP:0000568	Microphthalmia	55636	CHD7	OMIM:214800
HP:0000568	Microphthalmia	6650	CAPN15	OMIM:619318
HP:0000568	Microphthalmia	29887	SNX10	OMIM:615085
HP:0000568	Microphthalmia	5080	PAX6	ORPHA:137902
HP:0000568	Microphthalmia	114928	GPRASP2	OMIM:301018
HP:0010781	Skin dimple	2137	EXTL3	ORPHA:508533
HP:0010781	Skin dimple	10682	EBP	ORPHA:401973
HP:0010781	Skin dimple	10682	EBP	OMIM:300960
HP:0010781	Skin dimple	8367	H4C5	OMIM:619950
HP:0010781	Skin dimple	54892	NCAPG2	OMIM:618460
HP:0010781	Skin dimple	1859	DYRK1A	ORPHA:268261
HP:0010781	Skin dimple	5648	MASP1	OMIM:257920
HP:0010781	Skin dimple	145173	B3GLCT	ORPHA:709
HP:0010781	Skin dimple	6650	CAPN15	OMIM:619318
HP:0010781	Skin dimple	85358	SHANK3	OMIM:606232
HP:0010781	Skin dimple	85358	SHANK3	ORPHA:48652
HP:0010781	Skin dimple	57216	VANGL2	OMIM:182940
HP:0010781	Skin dimple	6347	CCL2	OMIM:182940
HP:0010781	Skin dimple	81839	VANGL1	OMIM:182940
HP:0010781	Skin dimple	6862	TBXT	OMIM:182940
HP:0010781	Skin dimple	80199	FUZ	OMIM:182940
HP:0010781	Skin dimple	79783	SUGCT	ORPHA:35706
HP:0010781	Skin dimple	91179	SCARF2	OMIM:600920
HP:0010781	Skin dimple	55209	SETD5	OMIM:615761
HP:0010781	Skin dimple	1855	DVL1	OMIM:616331
HP:0010781	Skin dimple	1855	DVL1	ORPHA:3107
HP:0010781	Skin dimple	1855	DVL1	OMIM:180700
HP:0010781	Skin dimple	4953	ODC1	ORPHA:544488
HP:0010781	Skin dimple	4297	KMT2A	OMIM:605130
HP:0010781	Skin dimple	4297	KMT2A	ORPHA:319182
HP:0010781	Skin dimple	2188	FANCF	OMIM:603467
HP:0010781	Skin dimple	1725	DHPS	OMIM:618480
HP:0010781	Skin dimple	6023	RMRP	ORPHA:175
HP:0010781	Skin dimple	56992	KIF15	ORPHA:261323
HP:0010781	Skin dimple	3190	HNRNPK	OMIM:616580
HP:0010781	Skin dimple	57492	ARID1B	OMIM:135900
HP:0010781	Skin dimple	10584	COLEC10	OMIM:248340
HP:0010781	Skin dimple	818	CAMK2G	OMIM:618522
HP:0010781	Skin dimple	284058	KANSL1	ORPHA:363958
HP:0010781	Skin dimple	284058	KANSL1	ORPHA:363965
HP:0010781	Skin dimple	284058	KANSL1	OMIM:610443
HP:0010781	Skin dimple	3899	AFF3	OMIM:619297
HP:0010781	Skin dimple	54496	PRMT7	OMIM:617157
HP:0010781	Skin dimple	7468	NSD2	OMIM:619695
HP:0010781	Skin dimple	7468	NSD2	ORPHA:280
HP:0010781	Skin dimple	7468	NSD2	OMIM:194190
HP:0010781	Skin dimple	9968	MED12	ORPHA:93932
HP:0010781	Skin dimple	9968	MED12	OMIM:305450
HP:0010781	Skin dimple	64359	NXN	ORPHA:1507
HP:0010781	Skin dimple	4920	ROR2	ORPHA:1507
HP:0010781	Skin dimple	3209	HOXA13	ORPHA:2438
HP:0010781	Skin dimple	54539	NDUFB11	ORPHA:2556
HP:0010781	Skin dimple	1349	COX7B	ORPHA:2556
HP:0010781	Skin dimple	3052	HCCS	ORPHA:2556
HP:0010781	Skin dimple	1717	DHCR7	OMIM:270400
HP:0010781	Skin dimple	5422	POLA1	OMIM:301030
HP:0010781	Skin dimple	9496	TBX4	ORPHA:261279
HP:0010781	Skin dimple	10815	CPLX1	ORPHA:280
HP:0010781	Skin dimple	10815	CPLX1	OMIM:194190
HP:0010781	Skin dimple	54872	PIGG	ORPHA:280
HP:0010781	Skin dimple	7469	NELFA	ORPHA:280
HP:0010781	Skin dimple	1487	CTBP1	ORPHA:280
HP:0010781	Skin dimple	1487	CTBP1	OMIM:194190
HP:0010781	Skin dimple	3954	LETM1	ORPHA:280
HP:0010781	Skin dimple	3954	LETM1	OMIM:194190
HP:0010781	Skin dimple	80776	B9D2	OMIM:614175
HP:0010781	Skin dimple	51305	KCNK9	ORPHA:166108
HP:0010781	Skin dimple	51305	KCNK9	OMIM:612292
HP:0010781	Skin dimple	2783	GNB2	OMIM:619503
HP:0010781	Skin dimple	79633	FAT4	OMIM:615546
HP:0010781	Skin dimple	8642	DCHS1	OMIM:601390
HP:0010781	Skin dimple	53834	FGFRL1	OMIM:194190
HP:0010781	Skin dimple	10522	DEAF1	OMIM:615828
HP:0010781	Skin dimple	165	AEBP1	ORPHA:536532
HP:0010781	Skin dimple	3981	LIG4	ORPHA:235
HP:0010781	Skin dimple	54888	NSUN2	ORPHA:235
HP:0010781	Skin dimple	10664	CTCF	ORPHA:363611
HP:0010781	Skin dimple	10664	CTCF	OMIM:615502
HP:0010781	Skin dimple	56006	SMG9	OMIM:619995
HP:0010781	Skin dimple	8558	CDK10	OMIM:617694
HP:0010781	Skin dimple	51633	OTUD6B	OMIM:617452
HP:0010781	Skin dimple	51633	OTUD6B	ORPHA:505237
HP:0010781	Skin dimple	1857	DVL3	ORPHA:3107
HP:0010781	Skin dimple	1857	DVL3	OMIM:616894
HP:0010781	Skin dimple	7474	WNT5A	ORPHA:3107
HP:0010781	Skin dimple	7474	WNT5A	OMIM:180700
HP:0010781	Skin dimple	2535	FZD2	ORPHA:3107
HP:0010781	Skin dimple	8239	USP9X	ORPHA:480880
HP:0010781	Skin dimple	8239	USP9X	OMIM:300968
HP:0010781	Skin dimple	6804	STX1A	ORPHA:904
HP:0010781	Skin dimple	7461	CLIP2	ORPHA:904
HP:0010781	Skin dimple	84277	DNAJC30	ORPHA:904
HP:0010781	Skin dimple	8468	FKBP6	ORPHA:904
HP:0010781	Skin dimple	5982	RFC2	ORPHA:904
HP:0010781	Skin dimple	2969	GTF2I	ORPHA:904
HP:0010781	Skin dimple	3984	LIMK1	ORPHA:904
HP:0010781	Skin dimple	9569	GTF2IRD1	ORPHA:904
HP:0010781	Skin dimple	155382	VPS37D	ORPHA:904
HP:0010781	Skin dimple	155368	METTL27	ORPHA:904
HP:0010781	Skin dimple	114049	BUD23	ORPHA:904
HP:0010781	Skin dimple	7458	EIF4H	ORPHA:904
HP:0010781	Skin dimple	84163	GTF2IRD2	ORPHA:904
HP:0010781	Skin dimple	9275	BCL7B	ORPHA:904
HP:0010781	Skin dimple	26608	TBL2	ORPHA:904
HP:0010781	Skin dimple	653361	NCF1	ORPHA:904
HP:0010781	Skin dimple	135886	TMEM270	ORPHA:904
HP:0010781	Skin dimple	51085	MLXIPL	ORPHA:904
HP:0010781	Skin dimple	9031	BAZ1B	ORPHA:904
HP:0010781	Skin dimple	2006	ELN	ORPHA:904
HP:0010781	Skin dimple	6134	RPL10	ORPHA:459070
HP:0010781	Skin dimple	286	ANK1	ORPHA:251066
HP:0010781	Skin dimple	54499	TMCO1	OMIM:213980
HP:0010781	Skin dimple	8405	SPOP	OMIM:618828
HP:0010781	Skin dimple	23137	SMC5	OMIM:620185
HP:0010781	Skin dimple	23405	DICER1	OMIM:618272
HP:0010781	Skin dimple	2187	FANCB	OMIM:314390
HP:0010781	Skin dimple	7547	ZIC3	OMIM:314390
HP:0010781	Skin dimple	8314	BAP1	OMIM:619762
HP:0010781	Skin dimple	6872	TAF1	OMIM:300966
HP:0010781	Skin dimple	374879	ZNF699	OMIM:619488
HP:0010781	Skin dimple	51715	RAB23	OMIM:201000
HP:0010781	Skin dimple	64093	SMOC1	OMIM:206920
HP:0010781	Skin dimple	79971	WLS	OMIM:619648
HP:0010781	Skin dimple	6925	TCF4	OMIM:610954
HP:0010781	Skin dimple	3090	HIC1	ORPHA:531
HP:0010781	Skin dimple	5048	PAFAH1B1	ORPHA:531
HP:0010781	Skin dimple	7531	YWHAE	ORPHA:531
HP:0010781	Skin dimple	4123	MAN2C1	OMIM:619775
HP:0010781	Skin dimple	3977	LIFR	ORPHA:3206
HP:0010781	Skin dimple	57479	PRR12	OMIM:619539
HP:0010781	Skin dimple	5718	PSMD12	OMIM:617516
HP:0010781	Skin dimple	55191	NADSYN1	OMIM:618845
HP:0010781	Skin dimple	10225	CD96	ORPHA:1308
HP:0010781	Skin dimple	23299	BICD2	OMIM:618291
HP:0010781	Skin dimple	171023	ASXL1	OMIM:605039
HP:0010781	Skin dimple	249	ALPL	OMIM:241500
HP:0010781	Skin dimple	249	ALPL	OMIM:241510
HP:0010781	Skin dimple	1798	DPAGT1	ORPHA:86309
HP:0010781	Skin dimple	1798	DPAGT1	OMIM:608093
HP:0010781	Skin dimple	55681	SCYL2	ORPHA:1143
HP:0010781	Skin dimple	84570	COL25A1	ORPHA:1143
HP:0010781	Skin dimple	57222	ERGIC1	ORPHA:1143
HP:0010781	Skin dimple	471	ATIC	OMIM:608688
HP:0010781	Skin dimple	2050	EPHB4	ORPHA:90186
HP:0010781	Skin dimple	2887	GRB10	ORPHA:96182
HP:0010781	Skin dimple	6662	SOX9	OMIM:114290
HP:0010782	Shoulder dimple	2887	GRB10	ORPHA:96182
HP:0010783	Erythema	399	RHOH	OMIM:618307
HP:0010783	Erythema	9401	RECQL4	ORPHA:221016
HP:0010783	Erythema	641	BLM	OMIM:210900
HP:0010783	Erythema	3785	KCNQ2	ORPHA:439218
HP:0010783	Erythema	2783	GNB2	OMIM:619503
HP:0010783	Erythema	9049	AIP	OMIM:219090
HP:0010783	Erythema	9101	USP8	OMIM:219090
HP:0010783	Erythema	30817	ADGRE2	OMIM:125630
HP:0010783	Erythema	64682	ANAPC1	ORPHA:221008
HP:0010783	Erythema	4558	MT-TF	ORPHA:550
HP:0010783	Erythema	4572	MT-TQ	ORPHA:550
HP:0010783	Erythema	4512	MT-CO1	ORPHA:550
HP:0010783	Erythema	4513	MT-CO2	ORPHA:550
HP:0010783	Erythema	4514	MT-CO3	ORPHA:550
HP:0010783	Erythema	4578	MT-TW	ORPHA:550
HP:0010783	Erythema	4540	MT-ND5	ORPHA:550
HP:0010783	Erythema	4541	MT-ND6	ORPHA:550
HP:0010783	Erythema	4535	MT-ND1	ORPHA:550
HP:0010783	Erythema	4538	MT-ND4	ORPHA:550
HP:0010783	Erythema	4567	MT-TL1	ORPHA:550
HP:0010783	Erythema	4574	MT-TS1	ORPHA:550
HP:0010783	Erythema	4575	MT-TS2	ORPHA:550
HP:0010783	Erythema	4564	MT-TH	ORPHA:550
HP:0010783	Erythema	2235	FECH	OMIM:177000
HP:0010783	Erythema	2235	FECH	ORPHA:79278
HP:0010783	Erythema	3858	KRT10	OMIM:607602
HP:0010783	Erythema	3815	KIT	OMIM:154800
HP:0010783	Erythema	3815	KIT	ORPHA:79455
HP:0010783	Erythema	3848	KRT1	OMIM:620148
HP:0010783	Erythema	3848	KRT1	ORPHA:530838
HP:0010783	Erythema	3119	HLA-DQB1	ORPHA:703
HP:0010783	Erythema	3123	HLA-DRB1	ORPHA:703
HP:0010783	Erythema	7518	XRCC4	ORPHA:99812
HP:0010783	Erythema	3981	LIG4	ORPHA:99812
HP:0010783	Erythema	362	AQP5	ORPHA:2337
HP:0010783	Erythema	7512	XPNPEP2	ORPHA:100057
HP:0010783	Erythema	7051	TGM1	ORPHA:281127
HP:0010783	Erythema	11277	TREX1	OMIM:225750
HP:0010783	Erythema	1294	COL7A1	ORPHA:158673
HP:0010783	Erythema	224	ALDH3A2	ORPHA:816
HP:0010783	Erythema	162514	TRPV3	ORPHA:659
HP:0010783	Erythema	64065	PERP	ORPHA:659
HP:0010783	Erythema	7132	TNFRSF1A	ORPHA:32960
HP:0010783	Erythema	1277	COL1A1	ORPHA:31112
HP:0010783	Erythema	5155	PDGFB	ORPHA:31112
HP:0010783	Erythema	27032	ATP2C1	ORPHA:2841
HP:0010783	Erythema	27032	ATP2C1	OMIM:169600
HP:0010783	Erythema	1956	EGFR	ORPHA:294023
HP:0010783	Erythema	3849	KRT2	ORPHA:455
HP:0010783	Erythema	3106	HLA-B	ORPHA:36426
HP:0010783	Erythema	10320	IKZF1	ORPHA:36426
HP:0010783	Erythema	114548	NLRP3	ORPHA:47045
HP:0010783	Erythema	6335	SCN9A	ORPHA:90026
HP:0010783	Erythema	11280	SCN11A	ORPHA:90026
HP:0010783	Erythema	6336	SCN10A	ORPHA:90026
HP:0010783	Erythema	2072	ERCC4	OMIM:278760
HP:0010783	Erythema	2072	ERCC4	ORPHA:910
HP:0010783	Erythema	50814	NSDHL	OMIM:308050
HP:0010783	Erythema	340061	STING1	OMIM:615934
HP:0010783	Erythema	26525	IL36RN	OMIM:614204
HP:0010783	Erythema	5238	PGM3	OMIM:615816
HP:0010783	Erythema	54539	NDUFB11	ORPHA:2556
HP:0010783	Erythema	1349	COX7B	ORPHA:2556
HP:0010783	Erythema	3052	HCCS	ORPHA:2556
HP:0010783	Erythema	56984	PSMG2	OMIM:619183
HP:0010783	Erythema	1508	CTSB	ORPHA:50943
HP:0010783	Erythema	1508	CTSB	OMIM:148370
HP:0010783	Erythema	84818	IL17RC	ORPHA:1334
HP:0010783	Erythema	64581	CLEC7A	ORPHA:1334
HP:0010783	Erythema	23765	IL17RA	ORPHA:1334
HP:0010783	Erythema	10758	TRAF3IP2	ORPHA:1334
HP:0010783	Erythema	112744	IL17F	ORPHA:1334
HP:0010783	Erythema	1832	DSP	OMIM:615821
HP:0010783	Erythema	6785	ELOVL4	OMIM:614457
HP:0010783	Erythema	2752	GLUL	OMIM:610015
HP:0010783	Erythema	2707	GJB3	ORPHA:317
HP:0010783	Erythema	2531	KDSR	ORPHA:317
HP:0010783	Erythema	2531	KDSR	ORPHA:316
HP:0010783	Erythema	2531	KDSR	OMIM:617526
HP:0010783	Erythema	127534	GJB4	ORPHA:317
HP:0010783	Erythema	127534	GJB4	OMIM:617524
HP:0010783	Erythema	9487	PIGL	ORPHA:3474
HP:0010783	Erythema	9333	TGM5	OMIM:609796
HP:0010783	Erythema	9333	TGM5	ORPHA:263534
HP:0010783	Erythema	1174	AP1S1	OMIM:609313
HP:0010783	Erythema	4210	MEFV	OMIM:608068
HP:0010783	Erythema	4210	MEFV	ORPHA:342
HP:0010783	Erythema	54795	TRPM4	ORPHA:316
HP:0010783	Erythema	4014	LORICRIN	ORPHA:316
HP:0010783	Erythema	3889	KRT83	ORPHA:316
HP:0010783	Erythema	242	ALOX12B	OMIM:242100
HP:0010783	Erythema	59344	ALOXE3	OMIM:242100
HP:0010783	Erythema	59344	ALOXE3	OMIM:606545
HP:0010783	Erythema	6820	SULT2B1	OMIM:617571
HP:0010783	Erythema	64840	PORCN	ORPHA:2092
HP:0010783	Erythema	4035	LRP1	OMIM:604093
HP:0010783	Erythema	4035	LRP1	ORPHA:79100
HP:0010783	Erythema	5336	PLCG2	OMIM:614468
HP:0010783	Erythema	5336	PLCG2	OMIM:614878
HP:0010783	Erythema	3675	ITGA3	OMIM:614748
HP:0010783	Erythema	3248	HPGD	OMIM:259100
HP:0010783	Erythema	5184	PEPD	ORPHA:742
HP:0010783	Erythema	4598	MVK	ORPHA:343
HP:0010783	Erythema	8517	IKBKG	ORPHA:464
HP:0010783	Erythema	8517	IKBKG	OMIM:308300
HP:0010783	Erythema	6774	STAT3	OMIM:147060
HP:0010783	Erythema	643418	LIPN	OMIM:613943
HP:0010783	Erythema	147409	DSG4	OMIM:607903
HP:0010783	Erythema	55739	NAXD	OMIM:618321
HP:0010783	Erythema	55612	FERMT1	ORPHA:2908
HP:0010783	Erythema	64377	CHST8	OMIM:616265
HP:0010783	Erythema	64127	NOD2	ORPHA:90340
HP:0010783	Erythema	710	SERPING1	OMIM:106100
HP:0010783	Erythema	1475	CSTA	ORPHA:263534
HP:0010783	Erythema	4921	DDR2	OMIM:618175
HP:0010783	Erythema	667	DST	OMIM:614653
HP:0010783	Erythema	5696	PSMB8	OMIM:256040
HP:0010783	Erythema	3861	KRT14	ORPHA:79396
HP:0010783	Erythema	1493	CTLA4	ORPHA:2584
HP:0010783	Erythema	940	CD28	ORPHA:2584
HP:0010783	Erythema	7133	TNFRSF1B	ORPHA:2584
HP:0010783	Erythema	165918	RNF168	ORPHA:420741
HP:0010783	Erythema	1027	CDKN1B	ORPHA:276152
HP:0010783	Erythema	2068	ERCC2	ORPHA:910
HP:0010783	Erythema	7507	XPA	ORPHA:910
HP:0010783	Erythema	2071	ERCC3	ORPHA:910
HP:0010783	Erythema	7508	XPC	ORPHA:910
HP:0010783	Erythema	1643	DDB2	ORPHA:910
HP:0010783	Erythema	2073	ERCC5	ORPHA:910
HP:0010783	Erythema	2702	GJA5	OMIM:612474
HP:0010783	Erythema	2703	GJA8	OMIM:612474
HP:0010783	Erythema	7286	TUFT1	OMIM:607655
HP:0010783	Erythema	80326	WNT10A	OMIM:257980
HP:0010783	Erythema	2697	GJA1	OMIM:104100
HP:0010783	Erythema	3852	KRT5	ORPHA:158681
HP:0010783	Erythema	3852	KRT5	OMIM:609352
HP:0010783	Erythema	2642	GCGR	ORPHA:438274
HP:0010783	Erythema	6868	ADAM17	OMIM:614328
HP:0010783	Erythema	55630	SLC39A4	OMIM:201100
HP:0010783	Erythema	6720	SREBF1	OMIM:619016
HP:0010783	Erythema	57152	SLURP1	OMIM:248300
HP:0010783	Erythema	51360	MBTPS2	OMIM:308205
HP:0010784	Uterine neoplasm	2271	FH	OMIM:150800
HP:0010784	Uterine neoplasm	2271	FH	ORPHA:523
HP:0010784	Uterine neoplasm	79577	CDC73	ORPHA:143
HP:0010784	Uterine neoplasm	79577	CDC73	ORPHA:99880
HP:0010784	Uterine neoplasm	2261	FGFR3	OMIM:616482
HP:0010784	Uterine neoplasm	4437	MSH3	ORPHA:480536
HP:0010784	Uterine neoplasm	4437	MSH3	OMIM:617100
HP:0010784	Uterine neoplasm	6714	SRC	OMIM:114500
HP:0010784	Uterine neoplasm	201163	FLCN	OMIM:114500
HP:0010784	Uterine neoplasm	10395	DLC1	OMIM:114500
HP:0010784	Uterine neoplasm	11200	CHEK2	OMIM:114500
HP:0010784	Uterine neoplasm	8313	AXIN2	OMIM:114500
HP:0010784	Uterine neoplasm	5290	PIK3CA	OMIM:114500
HP:0010784	Uterine neoplasm	2033	EP300	OMIM:114500
HP:0010784	Uterine neoplasm	5782	PTPN12	OMIM:114500
HP:0010784	Uterine neoplasm	5320	PLA2G2A	OMIM:114500
HP:0010784	Uterine neoplasm	6790	AURKA	OMIM:114500
HP:0010784	Uterine neoplasm	1630	DCC	OMIM:114500
HP:0010784	Uterine neoplasm	27030	MLH3	OMIM:114500
HP:0010784	Uterine neoplasm	581	BAX	OMIM:114500
HP:0010784	Uterine neoplasm	25788	RAD54B	OMIM:114500
HP:0010784	Uterine neoplasm	595	CCND1	OMIM:114500
HP:0010784	Uterine neoplasm	699	BUB1	OMIM:114500
HP:0010784	Uterine neoplasm	701	BUB1B	OMIM:114500
HP:0010784	Uterine neoplasm	7097	TLR2	OMIM:114500
HP:0010784	Uterine neoplasm	4893	NRAS	OMIM:114500
HP:0010784	Uterine neoplasm	324	APC	OMIM:114500
HP:0010784	Uterine neoplasm	1499	CTNNB1	OMIM:114500
HP:0010784	Uterine neoplasm	7157	TP53	OMIM:114500
HP:0010784	Uterine neoplasm	4163	MCC	OMIM:114500
HP:0010784	Uterine neoplasm	207	AKT1	OMIM:114500
HP:0010784	Uterine neoplasm	5157	PDGFRL	OMIM:114500
HP:0010784	Uterine neoplasm	5795	PTPRJ	OMIM:114500
HP:0010784	Uterine neoplasm	673	BRAF	OMIM:114500
HP:0010784	Uterine neoplasm	64218	SEMA4A	ORPHA:440437
HP:0010784	Uterine neoplasm	657	BMPR1A	ORPHA:440437
HP:0010784	Uterine neoplasm	6224	RPS20	ORPHA:440437
HP:0010784	Uterine neoplasm	4665	NAB2	ORPHA:2126
HP:0010784	Uterine neoplasm	6778	STAT6	ORPHA:2126
HP:0010784	Uterine neoplasm	6794	STK11	OMIM:175200
HP:0010784	Uterine neoplasm	5728	PTEN	ORPHA:109
HP:0010784	Uterine neoplasm	2313	FLI1	ORPHA:370348
HP:0010784	Uterine neoplasm	1288	COL4A6	ORPHA:1018
HP:0010784	Uterine neoplasm	1287	COL4A5	ORPHA:1018
HP:0010784	Uterine neoplasm	4292	MLH1	ORPHA:587
HP:0010784	Uterine neoplasm	2956	MSH6	ORPHA:587
HP:0010784	Uterine neoplasm	2956	MSH6	OMIM:614350
HP:0010784	Uterine neoplasm	2956	MSH6	OMIM:608089
HP:0010784	Uterine neoplasm	4436	MSH2	ORPHA:587
HP:0010784	Uterine neoplasm	10483	SEC23B	ORPHA:201
HP:0010784	Uterine neoplasm	6390	SDHB	ORPHA:201
HP:0010784	Uterine neoplasm	6392	SDHD	ORPHA:201
HP:0010784	Uterine neoplasm	6391	SDHC	ORPHA:201
HP:0010784	Uterine neoplasm	205717	USF3	ORPHA:201
HP:0010784	Uterine neoplasm	100144748	KLLN	ORPHA:201
HP:0010784	Uterine neoplasm	388662	SLC6A17	ORPHA:457212
HP:0010784	Uterine neoplasm	5424	POLD1	OMIM:612591
HP:0010784	Uterine neoplasm	5424	POLD1	ORPHA:447877
HP:0010784	Uterine neoplasm	26585	GREM1	ORPHA:157794
HP:0010784	Uterine neoplasm	4913	NTHL1	ORPHA:454840
HP:0010784	Uterine neoplasm	4913	NTHL1	OMIM:616415
HP:0010784	Uterine neoplasm	4072	EPCAM	OMIM:613244
HP:0010784	Uterine neoplasm	5395	PMS2	OMIM:614337
HP:0010784	Uterine neoplasm	5426	POLE	ORPHA:447877
HP:0010784	Uterine neoplasm	999	CDH1	OMIM:608089
HP:0010785	Gonadal neoplasm	1028	CDKN1C	OMIM:130650
HP:0010785	Gonadal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0010785	Gonadal neoplasm	3481	IGF2	OMIM:130650
HP:0010785	Gonadal neoplasm	3784	KCNQ1	OMIM:130650
HP:0010785	Gonadal neoplasm	6736	SRY	ORPHA:1772
HP:0010785	Gonadal neoplasm	6736	SRY	ORPHA:251510
HP:0010785	Gonadal neoplasm	6736	SRY	OMIM:400044
HP:0010785	Gonadal neoplasm	6662	SOX9	ORPHA:251510
HP:0010785	Gonadal neoplasm	6845	VAMP7	ORPHA:251510
HP:0010785	Gonadal neoplasm	51741	WWOX	ORPHA:251510
HP:0010785	Gonadal neoplasm	2516	NR5A1	ORPHA:251510
HP:0010785	Gonadal neoplasm	58524	DMRT3	ORPHA:251510
HP:0010785	Gonadal neoplasm	57647	DHX37	ORPHA:251510
HP:0010785	Gonadal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0010785	Gonadal neoplasm	190	NR0B1	ORPHA:251510
HP:0010785	Gonadal neoplasm	2626	GATA4	ORPHA:251510
HP:0010785	Gonadal neoplasm	5080	PAX6	OMIM:194072
HP:0010785	Gonadal neoplasm	1387	CREBBP	OMIM:180849
HP:0010785	Gonadal neoplasm	2033	EP300	OMIM:180849
HP:0010785	Gonadal neoplasm	7428	VHL	ORPHA:892
HP:0010785	Gonadal neoplasm	7428	VHL	OMIM:193300
HP:0010785	Gonadal neoplasm	595	CCND1	ORPHA:892
HP:0010785	Gonadal neoplasm	595	CCND1	OMIM:193300
HP:0010785	Gonadal neoplasm	6928	HNF1B	ORPHA:93111
HP:0010785	Gonadal neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0010785	Gonadal neoplasm	50940	PDE11A	ORPHA:1359
HP:0010785	Gonadal neoplasm	79577	CDC73	ORPHA:143
HP:0010785	Gonadal neoplasm	79577	CDC73	ORPHA:99880
HP:0010785	Gonadal neoplasm	284058	KANSL1	ORPHA:363965
HP:0010785	Gonadal neoplasm	284058	KANSL1	ORPHA:363958
HP:0010785	Gonadal neoplasm	2130	EWSR1	ORPHA:83469
HP:0010785	Gonadal neoplasm	7490	WT1	ORPHA:83469
HP:0010785	Gonadal neoplasm	5566	PRKACA	ORPHA:189439
HP:0010785	Gonadal neoplasm	8622	PDE8B	ORPHA:189439
HP:0010785	Gonadal neoplasm	412	STS	OMIM:308100
HP:0010785	Gonadal neoplasm	367	AR	ORPHA:99429
HP:0010785	Gonadal neoplasm	1027	CDKN1B	ORPHA:276152
HP:0010785	Gonadal neoplasm	5728	PTEN	ORPHA:744
HP:0010785	Gonadal neoplasm	207	AKT1	ORPHA:744
HP:0010785	Gonadal neoplasm	7157	TP53	ORPHA:524
HP:0010785	Gonadal neoplasm	1029	CDKN2A	ORPHA:524
HP:0010785	Gonadal neoplasm	4193	MDM2	ORPHA:524
HP:0010785	Gonadal neoplasm	11200	CHEK2	ORPHA:524
HP:0010785	Gonadal neoplasm	4437	MSH3	ORPHA:480536
HP:0010785	Gonadal neoplasm	672	BRCA1	ORPHA:1333
HP:0010785	Gonadal neoplasm	672	BRCA1	OMIM:617883
HP:0010785	Gonadal neoplasm	285282	RABL3	ORPHA:1333
HP:0010785	Gonadal neoplasm	675	BRCA2	ORPHA:1333
HP:0010785	Gonadal neoplasm	3845	KRAS	ORPHA:1333
HP:0010785	Gonadal neoplasm	79728	PALB2	ORPHA:1333
HP:0010785	Gonadal neoplasm	4089	SMAD4	ORPHA:1333
HP:0010785	Gonadal neoplasm	23022	PALLD	ORPHA:1333
HP:0010785	Gonadal neoplasm	5889	RAD51C	OMIM:613399
HP:0010785	Gonadal neoplasm	5727	PTCH1	OMIM:109400
HP:0010785	Gonadal neoplasm	56246	MRAP	ORPHA:361
HP:0010785	Gonadal neoplasm	6770	STAR	ORPHA:361
HP:0010785	Gonadal neoplasm	4158	MC2R	ORPHA:361
HP:0010785	Gonadal neoplasm	23530	NNT	ORPHA:361
HP:0010785	Gonadal neoplasm	10587	TXNRD2	ORPHA:361
HP:0010785	Gonadal neoplasm	1584	CYP11B1	ORPHA:90795
HP:0010785	Gonadal neoplasm	3110	MNX1	ORPHA:1552
HP:0010785	Gonadal neoplasm	26040	SETBP1	OMIM:269150
HP:0010785	Gonadal neoplasm	26040	SETBP1	ORPHA:798
HP:0010785	Gonadal neoplasm	64324	NSD1	ORPHA:821
HP:0010785	Gonadal neoplasm	29072	SETD2	ORPHA:821
HP:0010785	Gonadal neoplasm	10297	APC2	ORPHA:821
HP:0010785	Gonadal neoplasm	23405	DICER1	OMIM:180295
HP:0010785	Gonadal neoplasm	8930	MBD4	OMIM:619975
HP:0010785	Gonadal neoplasm	4292	MLH1	OMIM:158320
HP:0010785	Gonadal neoplasm	4292	MLH1	ORPHA:144
HP:0010785	Gonadal neoplasm	4436	MSH2	OMIM:158320
HP:0010785	Gonadal neoplasm	4436	MSH2	ORPHA:144
HP:0010785	Gonadal neoplasm	7486	WRN	ORPHA:902
HP:0010785	Gonadal neoplasm	5892	RAD51D	ORPHA:145
HP:0010785	Gonadal neoplasm	10111	RAD50	ORPHA:145
HP:0010785	Gonadal neoplasm	580	BARD1	ORPHA:145
HP:0010785	Gonadal neoplasm	5888	RAD51	ORPHA:145
HP:0010785	Gonadal neoplasm	4683	NBN	ORPHA:145
HP:0010785	Gonadal neoplasm	83990	BRIP1	ORPHA:145
HP:0010785	Gonadal neoplasm	4361	MRE11	ORPHA:145
HP:0010785	Gonadal neoplasm	4072	EPCAM	ORPHA:144
HP:0010785	Gonadal neoplasm	5395	PMS2	ORPHA:144
HP:0010785	Gonadal neoplasm	5395	PMS2	OMIM:614337
HP:0010785	Gonadal neoplasm	27030	MLH3	ORPHA:144
HP:0010785	Gonadal neoplasm	22909	FAN1	ORPHA:144
HP:0010785	Gonadal neoplasm	7048	TGFBR2	ORPHA:144
HP:0010785	Gonadal neoplasm	2956	MSH6	ORPHA:144
HP:0010785	Gonadal neoplasm	2956	MSH6	OMIM:614350
HP:0010785	Gonadal neoplasm	5378	PMS1	ORPHA:144
HP:0010785	Gonadal neoplasm	80326	WNT10A	ORPHA:50944
HP:0010785	Gonadal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0010785	Gonadal neoplasm	657	BMPR1A	ORPHA:440437
HP:0010785	Gonadal neoplasm	6224	RPS20	ORPHA:440437
HP:0010785	Gonadal neoplasm	2304	FOXE1	OMIM:616534
HP:0010785	Gonadal neoplasm	65998	ZFTA	ORPHA:251636
HP:0010785	Gonadal neoplasm	5970	RELA	ORPHA:251636
HP:0010785	Gonadal neoplasm	3418	IDH2	ORPHA:163634
HP:0010785	Gonadal neoplasm	3417	IDH1	ORPHA:163634
HP:0010785	Gonadal neoplasm	10734	STAG3	OMIM:615723
HP:0010785	Gonadal neoplasm	161742	SPRED1	ORPHA:137605
HP:0010785	Gonadal neoplasm	4000	LMNA	ORPHA:79474
HP:0010785	Gonadal neoplasm	9817	KEAP1	ORPHA:276399
HP:0010785	Gonadal neoplasm	2313	FLI1	ORPHA:370348
HP:0010785	Gonadal neoplasm	4214	MAP3K1	OMIM:613762
HP:0010785	Gonadal neoplasm	999	CDH1	OMIM:167000
HP:0010785	Gonadal neoplasm	5071	PRKN	OMIM:167000
HP:0010785	Gonadal neoplasm	4978	OPCML	OMIM:167000
HP:0010785	Gonadal neoplasm	2064	ERBB2	OMIM:167000
HP:0010785	Gonadal neoplasm	5290	PIK3CA	OMIM:167000
HP:0010785	Gonadal neoplasm	1499	CTNNB1	OMIM:167000
HP:0010785	Gonadal neoplasm	2263	FGFR2	OMIM:123500
HP:0010785	Gonadal neoplasm	50846	DHH	OMIM:233420
HP:0010785	Gonadal neoplasm	54894	RNF43	ORPHA:157798
HP:0010785	Gonadal neoplasm	6794	STK11	OMIM:273300
HP:0010785	Gonadal neoplasm	8915	BCL10	OMIM:273300
HP:0010785	Gonadal neoplasm	3815	KIT	OMIM:273300
HP:0010785	Gonadal neoplasm	2261	FGFR3	OMIM:273300
HP:0010786	Urinary tract neoplasm	11281	POU6F2	OMIM:601583
HP:0010786	Urinary tract neoplasm	11281	POU6F2	ORPHA:654
HP:0010786	Urinary tract neoplasm	716	C1S	OMIM:617174
HP:0010786	Urinary tract neoplasm	9158	FIBP	ORPHA:500095
HP:0010786	Urinary tract neoplasm	9158	FIBP	OMIM:617107
HP:0010786	Urinary tract neoplasm	9759	HDAC4	ORPHA:1001
HP:0010786	Urinary tract neoplasm	5978	REST	OMIM:616806
HP:0010786	Urinary tract neoplasm	5978	REST	ORPHA:654
HP:0010786	Urinary tract neoplasm	7490	WT1	ORPHA:347
HP:0010786	Urinary tract neoplasm	7490	WT1	ORPHA:220
HP:0010786	Urinary tract neoplasm	7490	WT1	ORPHA:654
HP:0010786	Urinary tract neoplasm	7490	WT1	OMIM:256370
HP:0010786	Urinary tract neoplasm	7490	WT1	OMIM:194080
HP:0010786	Urinary tract neoplasm	7490	WT1	ORPHA:251510
HP:0010786	Urinary tract neoplasm	7490	WT1	OMIM:194072
HP:0010786	Urinary tract neoplasm	7490	WT1	OMIM:194070
HP:0010786	Urinary tract neoplasm	2132	EXT2	ORPHA:52022
HP:0010786	Urinary tract neoplasm	60529	ALX4	ORPHA:52022
HP:0010786	Urinary tract neoplasm	51317	PHF21A	ORPHA:52022
HP:0010786	Urinary tract neoplasm	675	BRCA2	OMIM:613029
HP:0010786	Urinary tract neoplasm	675	BRCA2	ORPHA:654
HP:0010786	Urinary tract neoplasm	675	BRCA2	OMIM:194070
HP:0010786	Urinary tract neoplasm	79728	PALB2	OMIM:610832
HP:0010786	Urinary tract neoplasm	9319	TRIP13	ORPHA:654
HP:0010786	Urinary tract neoplasm	9319	TRIP13	OMIM:617598
HP:0010786	Urinary tract neoplasm	9319	TRIP13	ORPHA:1052
HP:0010786	Urinary tract neoplasm	10155	TRIM28	ORPHA:654
HP:0010786	Urinary tract neoplasm	2719	GPC3	ORPHA:654
HP:0010786	Urinary tract neoplasm	2719	GPC3	ORPHA:373
HP:0010786	Urinary tract neoplasm	2719	GPC3	OMIM:312870
HP:0010786	Urinary tract neoplasm	2719	GPC3	OMIM:194070
HP:0010786	Urinary tract neoplasm	283120	H19	ORPHA:654
HP:0010786	Urinary tract neoplasm	283120	H19	ORPHA:2128
HP:0010786	Urinary tract neoplasm	283120	H19	OMIM:194070
HP:0010786	Urinary tract neoplasm	3481	IGF2	ORPHA:2128
HP:0010786	Urinary tract neoplasm	3481	IGF2	OMIM:130650
HP:0010786	Urinary tract neoplasm	3481	IGF2	OMIM:180860
HP:0010786	Urinary tract neoplasm	3481	IGF2	OMIM:194070
HP:0010786	Urinary tract neoplasm	10984	KCNQ1OT1	ORPHA:2128
HP:0010786	Urinary tract neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0010786	Urinary tract neoplasm	2239	GPC4	ORPHA:373
HP:0010786	Urinary tract neoplasm	2239	GPC4	OMIM:312870
HP:0010786	Urinary tract neoplasm	2239	GPC4	OMIM:194070
HP:0010786	Urinary tract neoplasm	1028	CDKN1C	OMIM:130650
HP:0010786	Urinary tract neoplasm	3784	KCNQ1	OMIM:130650
HP:0010786	Urinary tract neoplasm	5727	PTCH1	ORPHA:77301
HP:0010786	Urinary tract neoplasm	641	BLM	ORPHA:125
HP:0010786	Urinary tract neoplasm	171023	ASXL1	ORPHA:97297
HP:0010786	Urinary tract neoplasm	9184	BUB3	ORPHA:1052
HP:0010786	Urinary tract neoplasm	9702	CEP57	ORPHA:1052
HP:0010786	Urinary tract neoplasm	4591	TRIM37	OMIM:253250
HP:0010786	Urinary tract neoplasm	6662	SOX9	ORPHA:251510
HP:0010786	Urinary tract neoplasm	6845	VAMP7	ORPHA:251510
HP:0010786	Urinary tract neoplasm	51741	WWOX	ORPHA:251510
HP:0010786	Urinary tract neoplasm	4214	MAP3K1	ORPHA:251510
HP:0010786	Urinary tract neoplasm	2516	NR5A1	ORPHA:251510
HP:0010786	Urinary tract neoplasm	58524	DMRT3	ORPHA:251510
HP:0010786	Urinary tract neoplasm	57647	DHX37	ORPHA:251510
HP:0010786	Urinary tract neoplasm	6736	SRY	ORPHA:251510
HP:0010786	Urinary tract neoplasm	23414	ZFPM2	ORPHA:251510
HP:0010786	Urinary tract neoplasm	190	NR0B1	ORPHA:251510
HP:0010786	Urinary tract neoplasm	2626	GATA4	ORPHA:251510
HP:0010786	Urinary tract neoplasm	161742	SPRED1	ORPHA:137605
HP:0010786	Urinary tract neoplasm	5080	PAX6	OMIM:194072
HP:0010786	Urinary tract neoplasm	26040	SETBP1	ORPHA:798
HP:0010786	Urinary tract neoplasm	538	ATP7A	OMIM:304150
HP:0010786	Urinary tract neoplasm	3265	HRAS	OMIM:218040
HP:0010786	Urinary tract neoplasm	54894	RNF43	ORPHA:157798
HP:0010786	Urinary tract neoplasm	7428	VHL	ORPHA:892
HP:0010786	Urinary tract neoplasm	7428	VHL	ORPHA:29072
HP:0010786	Urinary tract neoplasm	7428	VHL	OMIM:193300
HP:0010786	Urinary tract neoplasm	7428	VHL	OMIM:144700
HP:0010786	Urinary tract neoplasm	595	CCND1	ORPHA:892
HP:0010786	Urinary tract neoplasm	595	CCND1	OMIM:114500
HP:0010786	Urinary tract neoplasm	595	CCND1	OMIM:193300
HP:0010786	Urinary tract neoplasm	6714	SRC	OMIM:114500
HP:0010786	Urinary tract neoplasm	10395	DLC1	OMIM:114500
HP:0010786	Urinary tract neoplasm	8313	AXIN2	OMIM:114500
HP:0010786	Urinary tract neoplasm	2033	EP300	OMIM:114500
HP:0010786	Urinary tract neoplasm	5782	PTPN12	OMIM:114500
HP:0010786	Urinary tract neoplasm	5320	PLA2G2A	OMIM:114500
HP:0010786	Urinary tract neoplasm	6790	AURKA	OMIM:114500
HP:0010786	Urinary tract neoplasm	1630	DCC	OMIM:114500
HP:0010786	Urinary tract neoplasm	581	BAX	OMIM:114500
HP:0010786	Urinary tract neoplasm	25788	RAD54B	OMIM:114500
HP:0010786	Urinary tract neoplasm	699	BUB1	OMIM:114500
HP:0010786	Urinary tract neoplasm	701	BUB1B	OMIM:114500
HP:0010786	Urinary tract neoplasm	7097	TLR2	OMIM:114500
HP:0010786	Urinary tract neoplasm	4893	NRAS	OMIM:114500
HP:0010786	Urinary tract neoplasm	324	APC	OMIM:114500
HP:0010786	Urinary tract neoplasm	1499	CTNNB1	OMIM:114500
HP:0010786	Urinary tract neoplasm	4163	MCC	OMIM:114500
HP:0010786	Urinary tract neoplasm	207	AKT1	OMIM:114500
HP:0010786	Urinary tract neoplasm	207	AKT1	ORPHA:201
HP:0010786	Urinary tract neoplasm	5157	PDGFRL	OMIM:114500
HP:0010786	Urinary tract neoplasm	5795	PTPRJ	OMIM:114500
HP:0010786	Urinary tract neoplasm	673	BRAF	OMIM:114500
HP:0010786	Urinary tract neoplasm	10483	SEC23B	ORPHA:201
HP:0010786	Urinary tract neoplasm	5728	PTEN	ORPHA:201
HP:0010786	Urinary tract neoplasm	6390	SDHB	ORPHA:201
HP:0010786	Urinary tract neoplasm	6390	SDHB	OMIM:115310
HP:0010786	Urinary tract neoplasm	6390	SDHB	ORPHA:29072
HP:0010786	Urinary tract neoplasm	6392	SDHD	ORPHA:201
HP:0010786	Urinary tract neoplasm	6392	SDHD	ORPHA:29072
HP:0010786	Urinary tract neoplasm	6391	SDHC	ORPHA:201
HP:0010786	Urinary tract neoplasm	6391	SDHC	ORPHA:29072
HP:0010786	Urinary tract neoplasm	205717	USF3	ORPHA:201
HP:0010786	Urinary tract neoplasm	7030	TFE3	OMIM:300854
HP:0010786	Urinary tract neoplasm	79798	ARMC5	ORPHA:189427
HP:0010786	Urinary tract neoplasm	2778	GNAS	ORPHA:189427
HP:0010786	Urinary tract neoplasm	8314	BAP1	OMIM:614327
HP:0010786	Urinary tract neoplasm	6794	STK11	ORPHA:2869
HP:0010786	Urinary tract neoplasm	1743	DLST	ORPHA:29072
HP:0010786	Urinary tract neoplasm	4191	MDH2	ORPHA:29072
HP:0010786	Urinary tract neoplasm	5979	RET	ORPHA:29072
HP:0010786	Urinary tract neoplasm	6389	SDHA	ORPHA:29072
HP:0010786	Urinary tract neoplasm	23095	KIF1B	ORPHA:29072
HP:0010786	Urinary tract neoplasm	8402	SLC25A11	ORPHA:29072
HP:0010786	Urinary tract neoplasm	54949	SDHAF2	ORPHA:29072
HP:0010786	Urinary tract neoplasm	55654	TMEM127	ORPHA:29072
HP:0010786	Urinary tract neoplasm	4763	NF1	ORPHA:29072
HP:0010786	Urinary tract neoplasm	4149	MAX	ORPHA:29072
HP:0010786	Urinary tract neoplasm	4968	OGG1	OMIM:144700
HP:0010786	Urinary tract neoplasm	11236	RNF139	OMIM:144700
HP:0010786	Urinary tract neoplasm	55193	PBRM1	OMIM:144700
HP:0010786	Urinary tract neoplasm	6927	HNF1A	OMIM:144700
HP:0010786	Urinary tract neoplasm	6928	HNF1B	OMIM:144700
HP:0010786	Urinary tract neoplasm	6928	HNF1B	ORPHA:93111
HP:0010786	Urinary tract neoplasm	9817	KEAP1	ORPHA:276399
HP:0010786	Urinary tract neoplasm	23405	DICER1	ORPHA:276399
HP:0010786	Urinary tract neoplasm	7373	COL14A1	ORPHA:79501
HP:0010786	Urinary tract neoplasm	79719	AAGAB	ORPHA:79501
HP:0010786	Urinary tract neoplasm	2271	FH	ORPHA:523
HP:0010786	Urinary tract neoplasm	2304	FOXE1	ORPHA:319487
HP:0010786	Urinary tract neoplasm	3026	HABP2	ORPHA:319487
HP:0010786	Urinary tract neoplasm	9562	MINPP1	ORPHA:319487
HP:0010786	Urinary tract neoplasm	4233	MET	OMIM:605074
HP:0010786	Urinary tract neoplasm	5546	PRCC	OMIM:605074
HP:0010786	Urinary tract neoplasm	64127	NOD2	ORPHA:90340
HP:0010786	Urinary tract neoplasm	7249	TSC2	OMIM:613254
HP:0010786	Urinary tract neoplasm	7249	TSC2	ORPHA:805
HP:0010786	Urinary tract neoplasm	7249	TSC2	ORPHA:538
HP:0010786	Urinary tract neoplasm	3458	IFNG	OMIM:613254
HP:0010786	Urinary tract neoplasm	3458	IFNG	ORPHA:805
HP:0010786	Urinary tract neoplasm	4598	MVK	OMIM:260920
HP:0010786	Urinary tract neoplasm	7248	TSC1	ORPHA:805
HP:0010786	Urinary tract neoplasm	7248	TSC1	OMIM:191100
HP:0010786	Urinary tract neoplasm	7248	TSC1	ORPHA:538
HP:0010786	Urinary tract neoplasm	1027	CDKN1B	OMIM:610755
HP:0010786	Urinary tract neoplasm	1027	CDKN1B	ORPHA:276152
HP:0010786	Urinary tract neoplasm	168667	BMPER	OMIM:608022
HP:0010786	Urinary tract neoplasm	129563	DIS3L2	OMIM:267000
HP:0010786	Urinary tract neoplasm	79577	CDC73	ORPHA:143
HP:0010786	Urinary tract neoplasm	79577	CDC73	ORPHA:99880
HP:0010786	Urinary tract neoplasm	4913	NTHL1	OMIM:616415
HP:0010786	Urinary tract neoplasm	4913	NTHL1	ORPHA:454840
HP:0010786	Urinary tract neoplasm	5925	RB1	OMIM:109800
HP:0010786	Urinary tract neoplasm	2261	FGFR3	OMIM:109800
HP:0010786	Urinary tract neoplasm	126792	B3GALT6	ORPHA:536467
HP:0010786	Urinary tract neoplasm	201163	FLCN	OMIM:135150
HP:0010786	Urinary tract neoplasm	25913	POT1	OMIM:616568
HP:0010786	Urinary tract neoplasm	100144748	KLLN	OMIM:615107
HP:0010786	Urinary tract neoplasm	4000	LMNA	ORPHA:79474
HP:0010786	Urinary tract neoplasm	7486	WRN	ORPHA:902
HP:0010786	Urinary tract neoplasm	7157	TP53	ORPHA:524
HP:0010786	Urinary tract neoplasm	1029	CDKN2A	ORPHA:524
HP:0010786	Urinary tract neoplasm	4193	MDM2	ORPHA:524
HP:0010786	Urinary tract neoplasm	11200	CHEK2	ORPHA:524
HP:0010786	Urinary tract neoplasm	64218	SEMA4A	ORPHA:440437
HP:0010786	Urinary tract neoplasm	657	BMPR1A	ORPHA:440437
HP:0010786	Urinary tract neoplasm	6224	RPS20	ORPHA:440437
HP:0010786	Urinary tract neoplasm	4072	EPCAM	ORPHA:144
HP:0010786	Urinary tract neoplasm	4292	MLH1	ORPHA:144
HP:0010786	Urinary tract neoplasm	5395	PMS2	ORPHA:144
HP:0010786	Urinary tract neoplasm	27030	MLH3	ORPHA:144
HP:0010786	Urinary tract neoplasm	22909	FAN1	ORPHA:144
HP:0010786	Urinary tract neoplasm	7048	TGFBR2	ORPHA:144
HP:0010786	Urinary tract neoplasm	3845	KRAS	ORPHA:144
HP:0010786	Urinary tract neoplasm	5290	PIK3CA	ORPHA:144
HP:0010786	Urinary tract neoplasm	2956	MSH6	ORPHA:144
HP:0010786	Urinary tract neoplasm	5378	PMS1	ORPHA:144
HP:0010786	Urinary tract neoplasm	4436	MSH2	ORPHA:144
HP:0010786	Urinary tract neoplasm	6597	SMARCA4	OMIM:613325
HP:0010786	Urinary tract neoplasm	55612	FERMT1	ORPHA:2908
HP:0010787	Genital neoplasm	79577	CDC73	ORPHA:143
HP:0010787	Genital neoplasm	79577	CDC73	ORPHA:99880
HP:0010787	Genital neoplasm	4437	MSH3	ORPHA:480536
HP:0010787	Genital neoplasm	4437	MSH3	OMIM:617100
HP:0010787	Genital neoplasm	1028	CDKN1C	OMIM:130650
HP:0010787	Genital neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0010787	Genital neoplasm	3784	KCNQ1	OMIM:130650
HP:0010787	Genital neoplasm	6736	SRY	ORPHA:1772
HP:0010787	Genital neoplasm	6736	SRY	ORPHA:251510
HP:0010787	Genital neoplasm	6736	SRY	OMIM:400044
HP:0010787	Genital neoplasm	6662	SOX9	ORPHA:251510
HP:0010787	Genital neoplasm	6845	VAMP7	ORPHA:251510
HP:0010787	Genital neoplasm	51741	WWOX	ORPHA:251510
HP:0010787	Genital neoplasm	2516	NR5A1	ORPHA:251510
HP:0010787	Genital neoplasm	58524	DMRT3	ORPHA:251510
HP:0010787	Genital neoplasm	57647	DHX37	ORPHA:251510
HP:0010787	Genital neoplasm	23414	ZFPM2	ORPHA:251510
HP:0010787	Genital neoplasm	190	NR0B1	ORPHA:251510
HP:0010787	Genital neoplasm	2626	GATA4	ORPHA:251510
HP:0010787	Genital neoplasm	5080	PAX6	OMIM:194072
HP:0010787	Genital neoplasm	6714	SRC	OMIM:114500
HP:0010787	Genital neoplasm	201163	FLCN	OMIM:114500
HP:0010787	Genital neoplasm	10395	DLC1	OMIM:114500
HP:0010787	Genital neoplasm	8313	AXIN2	OMIM:114500
HP:0010787	Genital neoplasm	2033	EP300	OMIM:114500
HP:0010787	Genital neoplasm	5782	PTPN12	OMIM:114500
HP:0010787	Genital neoplasm	5320	PLA2G2A	OMIM:114500
HP:0010787	Genital neoplasm	6790	AURKA	OMIM:114500
HP:0010787	Genital neoplasm	1630	DCC	OMIM:114500
HP:0010787	Genital neoplasm	581	BAX	OMIM:114500
HP:0010787	Genital neoplasm	25788	RAD54B	OMIM:114500
HP:0010787	Genital neoplasm	595	CCND1	OMIM:114500
HP:0010787	Genital neoplasm	7097	TLR2	OMIM:114500
HP:0010787	Genital neoplasm	4893	NRAS	OMIM:114500
HP:0010787	Genital neoplasm	4163	MCC	OMIM:114500
HP:0010787	Genital neoplasm	5157	PDGFRL	OMIM:114500
HP:0010787	Genital neoplasm	5795	PTPRJ	OMIM:114500
HP:0010787	Genital neoplasm	673	BRAF	OMIM:114500
HP:0010787	Genital neoplasm	1387	CREBBP	OMIM:180849
HP:0010787	Genital neoplasm	7428	VHL	ORPHA:892
HP:0010787	Genital neoplasm	7428	VHL	OMIM:193300
HP:0010787	Genital neoplasm	6928	HNF1B	ORPHA:93111
HP:0010787	Genital neoplasm	284058	KANSL1	ORPHA:363965
HP:0010787	Genital neoplasm	284058	KANSL1	ORPHA:363958
HP:0010787	Genital neoplasm	5566	PRKACA	ORPHA:189439
HP:0010787	Genital neoplasm	8622	PDE8B	ORPHA:189439
HP:0010787	Genital neoplasm	1027	CDKN1B	ORPHA:276152
HP:0010787	Genital neoplasm	10483	SEC23B	ORPHA:201
HP:0010787	Genital neoplasm	6390	SDHB	ORPHA:201
HP:0010787	Genital neoplasm	6392	SDHD	ORPHA:201
HP:0010787	Genital neoplasm	6391	SDHC	ORPHA:201
HP:0010787	Genital neoplasm	205717	USF3	ORPHA:201
HP:0010787	Genital neoplasm	100144748	KLLN	ORPHA:201
HP:0010787	Genital neoplasm	388662	SLC6A17	ORPHA:457212
HP:0010787	Genital neoplasm	5424	POLD1	OMIM:612591
HP:0010787	Genital neoplasm	5424	POLD1	ORPHA:447877
HP:0010787	Genital neoplasm	5426	POLE	ORPHA:447877
HP:0010787	Genital neoplasm	2048	EPHB2	OMIM:603688
HP:0010787	Genital neoplasm	463	ZFHX3	OMIM:176807
HP:0010787	Genital neoplasm	1316	KLF6	OMIM:176807
HP:0010787	Genital neoplasm	999	CDH1	OMIM:176807
HP:0010787	Genital neoplasm	4601	MXI1	OMIM:176807
HP:0010787	Genital neoplasm	8379	MAD1L1	OMIM:176807
HP:0010787	Genital neoplasm	6041	RNASEL	OMIM:601518
HP:0010787	Genital neoplasm	26585	GREM1	ORPHA:157794
HP:0010787	Genital neoplasm	4913	NTHL1	OMIM:616415
HP:0010787	Genital neoplasm	324	APC	ORPHA:79665
HP:0010787	Genital neoplasm	7373	COL14A1	ORPHA:79501
HP:0010787	Genital neoplasm	79719	AAGAB	ORPHA:79501
HP:0010787	Genital neoplasm	285282	RABL3	ORPHA:1333
HP:0010787	Genital neoplasm	4089	SMAD4	ORPHA:1333
HP:0010787	Genital neoplasm	23022	PALLD	ORPHA:1333
HP:0010787	Genital neoplasm	5727	PTCH1	OMIM:109400
HP:0010787	Genital neoplasm	56246	MRAP	ORPHA:361
HP:0010787	Genital neoplasm	6770	STAR	ORPHA:361
HP:0010787	Genital neoplasm	4158	MC2R	ORPHA:361
HP:0010787	Genital neoplasm	23530	NNT	ORPHA:361
HP:0010787	Genital neoplasm	10587	TXNRD2	ORPHA:361
HP:0010787	Genital neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0010787	Genital neoplasm	50940	PDE11A	ORPHA:1359
HP:0010787	Genital neoplasm	1584	CYP11B1	ORPHA:90795
HP:0010787	Genital neoplasm	1288	COL4A6	ORPHA:1018
HP:0010787	Genital neoplasm	1287	COL4A5	ORPHA:1018
HP:0010787	Genital neoplasm	81704	DOCK8	ORPHA:217390
HP:0010787	Genital neoplasm	3110	MNX1	ORPHA:1552
HP:0010787	Genital neoplasm	26040	SETBP1	OMIM:269150
HP:0010787	Genital neoplasm	26040	SETBP1	ORPHA:798
HP:0010787	Genital neoplasm	64324	NSD1	ORPHA:821
HP:0010787	Genital neoplasm	29072	SETD2	ORPHA:821
HP:0010787	Genital neoplasm	10297	APC2	ORPHA:821
HP:0010787	Genital neoplasm	23405	DICER1	OMIM:180295
HP:0010787	Genital neoplasm	8930	MBD4	OMIM:619975
HP:0010787	Genital neoplasm	4292	MLH1	OMIM:158320
HP:0010787	Genital neoplasm	4292	MLH1	ORPHA:144
HP:0010787	Genital neoplasm	4436	MSH2	OMIM:158320
HP:0010787	Genital neoplasm	4436	MSH2	ORPHA:144
HP:0010787	Genital neoplasm	2263	FGFR2	ORPHA:87
HP:0010787	Genital neoplasm	7486	WRN	ORPHA:902
HP:0010787	Genital neoplasm	672	BRCA1	OMIM:604370
HP:0010787	Genital neoplasm	672	BRCA1	ORPHA:145
HP:0010787	Genital neoplasm	672	BRCA1	OMIM:617883
HP:0010787	Genital neoplasm	5728	PTEN	ORPHA:744
HP:0010787	Genital neoplasm	5728	PTEN	ORPHA:145
HP:0010787	Genital neoplasm	5728	PTEN	ORPHA:65285
HP:0010787	Genital neoplasm	5728	PTEN	ORPHA:137608
HP:0010787	Genital neoplasm	207	AKT1	ORPHA:744
HP:0010787	Genital neoplasm	5892	RAD51D	ORPHA:145
HP:0010787	Genital neoplasm	675	BRCA2	ORPHA:145
HP:0010787	Genital neoplasm	675	BRCA2	OMIM:612555
HP:0010787	Genital neoplasm	10111	RAD50	ORPHA:145
HP:0010787	Genital neoplasm	580	BARD1	ORPHA:145
HP:0010787	Genital neoplasm	5888	RAD51	ORPHA:145
HP:0010787	Genital neoplasm	4683	NBN	ORPHA:145
HP:0010787	Genital neoplasm	5889	RAD51C	ORPHA:145
HP:0010787	Genital neoplasm	83990	BRIP1	ORPHA:145
HP:0010787	Genital neoplasm	4361	MRE11	ORPHA:145
HP:0010787	Genital neoplasm	79728	PALB2	ORPHA:145
HP:0010787	Genital neoplasm	4072	EPCAM	ORPHA:144
HP:0010787	Genital neoplasm	5395	PMS2	ORPHA:144
HP:0010787	Genital neoplasm	5395	PMS2	OMIM:614337
HP:0010787	Genital neoplasm	27030	MLH3	ORPHA:144
HP:0010787	Genital neoplasm	22909	FAN1	ORPHA:144
HP:0010787	Genital neoplasm	7048	TGFBR2	ORPHA:144
HP:0010787	Genital neoplasm	3845	KRAS	ORPHA:144
HP:0010787	Genital neoplasm	5290	PIK3CA	ORPHA:144
HP:0010787	Genital neoplasm	2956	MSH6	ORPHA:144
HP:0010787	Genital neoplasm	2956	MSH6	OMIM:614350
HP:0010787	Genital neoplasm	5378	PMS1	ORPHA:144
HP:0010787	Genital neoplasm	80326	WNT10A	ORPHA:50944
HP:0010787	Genital neoplasm	2130	EWSR1	ORPHA:83469
HP:0010787	Genital neoplasm	7490	WT1	ORPHA:83469
HP:0010787	Genital neoplasm	64218	SEMA4A	ORPHA:440437
HP:0010787	Genital neoplasm	657	BMPR1A	ORPHA:440437
HP:0010787	Genital neoplasm	6224	RPS20	ORPHA:440437
HP:0010787	Genital neoplasm	2304	FOXE1	OMIM:616534
HP:0010787	Genital neoplasm	65998	ZFTA	ORPHA:251636
HP:0010787	Genital neoplasm	5970	RELA	ORPHA:251636
HP:0010787	Genital neoplasm	3418	IDH2	ORPHA:163634
HP:0010787	Genital neoplasm	3417	IDH1	ORPHA:163634
HP:0010787	Genital neoplasm	10734	STAG3	OMIM:615723
HP:0010787	Genital neoplasm	161742	SPRED1	ORPHA:137605
HP:0010787	Genital neoplasm	4000	LMNA	ORPHA:79474
HP:0010787	Genital neoplasm	9817	KEAP1	ORPHA:276399
HP:0010787	Genital neoplasm	412	STS	ORPHA:281090
HP:0010787	Genital neoplasm	3481	IGF2	OMIM:180860
HP:0010787	Genital neoplasm	4214	MAP3K1	OMIM:613762
HP:0010787	Genital neoplasm	5071	PRKN	OMIM:167000
HP:0010787	Genital neoplasm	4978	OPCML	OMIM:167000
HP:0010787	Genital neoplasm	2064	ERBB2	OMIM:167000
HP:0010787	Genital neoplasm	1499	CTNNB1	OMIM:167000
HP:0010787	Genital neoplasm	50846	DHH	OMIM:233420
HP:0010787	Genital neoplasm	4665	NAB2	ORPHA:2126
HP:0010787	Genital neoplasm	6778	STAT6	ORPHA:2126
HP:0010787	Genital neoplasm	9184	BUB3	ORPHA:1052
HP:0010787	Genital neoplasm	699	BUB1	ORPHA:1052
HP:0010787	Genital neoplasm	9702	CEP57	ORPHA:1052
HP:0010787	Genital neoplasm	9319	TRIP13	ORPHA:1052
HP:0010787	Genital neoplasm	701	BUB1B	ORPHA:1052
HP:0010787	Genital neoplasm	2271	FH	ORPHA:523
HP:0010787	Genital neoplasm	367	AR	ORPHA:90797
HP:0010787	Genital neoplasm	367	AR	ORPHA:99429
HP:0010787	Genital neoplasm	54894	RNF43	ORPHA:157798
HP:0010787	Genital neoplasm	7157	TP53	OMIM:151623
HP:0010787	Genital neoplasm	7157	TP53	ORPHA:524
HP:0010787	Genital neoplasm	1029	CDKN2A	ORPHA:524
HP:0010787	Genital neoplasm	4193	MDM2	ORPHA:524
HP:0010787	Genital neoplasm	11200	CHEK2	ORPHA:524
HP:0010787	Genital neoplasm	6794	STK11	OMIM:273300
HP:0010787	Genital neoplasm	8915	BCL10	OMIM:273300
HP:0010787	Genital neoplasm	3815	KIT	OMIM:273300
HP:0010787	Genital neoplasm	2261	FGFR3	OMIM:273300
HP:0010787	Genital neoplasm	2313	FLI1	ORPHA:370348
HP:0010788	Testicular neoplasm	6662	SOX9	ORPHA:251510
HP:0010788	Testicular neoplasm	6845	VAMP7	ORPHA:251510
HP:0010788	Testicular neoplasm	51741	WWOX	ORPHA:251510
HP:0010788	Testicular neoplasm	4214	MAP3K1	ORPHA:251510
HP:0010788	Testicular neoplasm	2516	NR5A1	ORPHA:251510
HP:0010788	Testicular neoplasm	7490	WT1	ORPHA:251510
HP:0010788	Testicular neoplasm	58524	DMRT3	ORPHA:251510
HP:0010788	Testicular neoplasm	57647	DHX37	ORPHA:251510
HP:0010788	Testicular neoplasm	6736	SRY	ORPHA:251510
HP:0010788	Testicular neoplasm	23414	ZFPM2	ORPHA:251510
HP:0010788	Testicular neoplasm	190	NR0B1	ORPHA:251510
HP:0010788	Testicular neoplasm	2626	GATA4	ORPHA:251510
HP:0010788	Testicular neoplasm	6794	STK11	OMIM:175200
HP:0010788	Testicular neoplasm	79577	CDC73	ORPHA:143
HP:0010788	Testicular neoplasm	79577	CDC73	ORPHA:99880
HP:0010788	Testicular neoplasm	284058	KANSL1	ORPHA:363965
HP:0010788	Testicular neoplasm	284058	KANSL1	ORPHA:363958
HP:0010788	Testicular neoplasm	2130	EWSR1	ORPHA:83469
HP:0010788	Testicular neoplasm	5566	PRKACA	ORPHA:189439
HP:0010788	Testicular neoplasm	8622	PDE8B	ORPHA:189439
HP:0010788	Testicular neoplasm	367	AR	ORPHA:99429
HP:0010788	Testicular neoplasm	1027	CDKN1B	ORPHA:276152
HP:0010788	Testicular neoplasm	5728	PTEN	ORPHA:744
HP:0010788	Testicular neoplasm	207	AKT1	ORPHA:744
HP:0010788	Testicular neoplasm	7157	TP53	ORPHA:524
HP:0010788	Testicular neoplasm	1029	CDKN2A	ORPHA:524
HP:0010788	Testicular neoplasm	4193	MDM2	ORPHA:524
HP:0010788	Testicular neoplasm	11200	CHEK2	ORPHA:524
HP:0010788	Testicular neoplasm	56246	MRAP	ORPHA:361
HP:0010788	Testicular neoplasm	6770	STAR	ORPHA:361
HP:0010788	Testicular neoplasm	4158	MC2R	ORPHA:361
HP:0010788	Testicular neoplasm	23530	NNT	ORPHA:361
HP:0010788	Testicular neoplasm	10587	TXNRD2	ORPHA:361
HP:0010788	Testicular neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0010788	Testicular neoplasm	50940	PDE11A	ORPHA:1359
HP:0010788	Testicular neoplasm	1584	CYP11B1	ORPHA:90795
HP:0010788	Testicular neoplasm	412	STS	ORPHA:281090
HP:0010788	Testicular neoplasm	3481	IGF2	OMIM:180860
HP:0010788	Testicular neoplasm	9817	KEAP1	ORPHA:276399
HP:0010788	Testicular neoplasm	23405	DICER1	ORPHA:276399
HP:0010789	Abnormality of the Leydig cells	1583	CYP11A1	ORPHA:289548
HP:0010789	Abnormality of the Leydig cells	1583	CYP11A1	ORPHA:168558
HP:0010789	Abnormality of the Leydig cells	6611	SMS	ORPHA:3063
HP:0010789	Abnormality of the Leydig cells	3972	LHB	OMIM:228300
HP:0010789	Abnormality of the Leydig cells	7840	ALMS1	ORPHA:64
HP:0010789	Abnormality of the Leydig cells	2778	GNAS	ORPHA:562
HP:0010789	Abnormality of the Leydig cells	2488	FSHB	ORPHA:52901
HP:0010789	Abnormality of the Leydig cells	56246	MRAP	ORPHA:361
HP:0010789	Abnormality of the Leydig cells	6770	STAR	ORPHA:361
HP:0010789	Abnormality of the Leydig cells	4158	MC2R	ORPHA:361
HP:0010789	Abnormality of the Leydig cells	23530	NNT	ORPHA:361
HP:0010789	Abnormality of the Leydig cells	10587	TXNRD2	ORPHA:361
HP:0010789	Abnormality of the Leydig cells	5573	PRKAR1A	ORPHA:1359
HP:0010789	Abnormality of the Leydig cells	50940	PDE11A	ORPHA:1359
HP:0010780	Hyperacusis	7204	TRIO	OMIM:617061
HP:0010780	Hyperacusis	3074	HEXB	ORPHA:309155
HP:0010780	Hyperacusis	8493	PPM1D	OMIM:617450
HP:0010780	Hyperacusis	2760	GM2A	ORPHA:309246
HP:0010780	Hyperacusis	2760	GM2A	OMIM:272750
HP:0010780	Hyperacusis	10743	RAI1	OMIM:182290
HP:0010780	Hyperacusis	10743	RAI1	ORPHA:819
HP:0010780	Hyperacusis	6804	STX1A	ORPHA:904
HP:0010780	Hyperacusis	7461	CLIP2	ORPHA:904
HP:0010780	Hyperacusis	84277	DNAJC30	ORPHA:904
HP:0010780	Hyperacusis	8468	FKBP6	ORPHA:904
HP:0010780	Hyperacusis	5982	RFC2	ORPHA:904
HP:0010780	Hyperacusis	2969	GTF2I	ORPHA:904
HP:0010780	Hyperacusis	3984	LIMK1	ORPHA:904
HP:0010780	Hyperacusis	9569	GTF2IRD1	ORPHA:904
HP:0010780	Hyperacusis	155382	VPS37D	ORPHA:904
HP:0010780	Hyperacusis	155368	METTL27	ORPHA:904
HP:0010780	Hyperacusis	114049	BUD23	ORPHA:904
HP:0010780	Hyperacusis	7458	EIF4H	ORPHA:904
HP:0010780	Hyperacusis	84163	GTF2IRD2	ORPHA:904
HP:0010780	Hyperacusis	9275	BCL7B	ORPHA:904
HP:0010780	Hyperacusis	26608	TBL2	ORPHA:904
HP:0010780	Hyperacusis	653361	NCF1	ORPHA:904
HP:0010780	Hyperacusis	135886	TMEM270	ORPHA:904
HP:0010780	Hyperacusis	51085	MLXIPL	ORPHA:904
HP:0010780	Hyperacusis	51085	MLXIPL	OMIM:194050
HP:0010780	Hyperacusis	9031	BAZ1B	ORPHA:904
HP:0010780	Hyperacusis	2006	ELN	ORPHA:904
HP:0010780	Hyperacusis	2006	ELN	OMIM:194050
HP:0010780	Hyperacusis	2314	FLII	ORPHA:819
HP:0010780	Hyperacusis	23096	IQSEC2	ORPHA:819
HP:0010780	Hyperacusis	10522	DEAF1	ORPHA:819
HP:0007727	Opacification of the corneal epithelium	224	ALDH3A2	OMIM:270200
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98960
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98962
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98963
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98964
HP:0007727	Opacification of the corneal epithelium	1308	COL17A1	ORPHA:293381
HP:0007728	Congenital miosis	84570	COL25A1	ORPHA:91411
HP:0007728	Congenital miosis	79776	ZFHX4	ORPHA:91411
HP:0007730	Iris hypopigmentation	63915	BLOC1S5	OMIM:619172
HP:0007730	Iris hypopigmentation	57724	EPG5	OMIM:242840
HP:0007730	Iris hypopigmentation	8943	AP3D1	OMIM:617050
HP:0007730	Iris hypopigmentation	8943	AP3D1	ORPHA:1000
HP:0007730	Iris hypopigmentation	8943	AP3D1	ORPHA:54
HP:0007730	Iris hypopigmentation	7299	TYR	OMIM:203100
HP:0007730	Iris hypopigmentation	7299	TYR	ORPHA:79431
HP:0007730	Iris hypopigmentation	3257	HPS1	OMIM:203300
HP:0007730	Iris hypopigmentation	5590	PRKCZ	ORPHA:1606
HP:0007730	Iris hypopigmentation	2563	GABRD	ORPHA:1606
HP:0007730	Iris hypopigmentation	23013	SPEN	ORPHA:1606
HP:0007730	Iris hypopigmentation	8510	MMP23B	ORPHA:1606
HP:0007730	Iris hypopigmentation	7798	LUZP1	ORPHA:1606
HP:0007730	Iris hypopigmentation	6497	SKI	ORPHA:1606
HP:0007730	Iris hypopigmentation	10630	PDPN	ORPHA:1606
HP:0007730	Iris hypopigmentation	3339	HSPG2	ORPHA:1606
HP:0007730	Iris hypopigmentation	10277	UBE4B	ORPHA:1606
HP:0007730	Iris hypopigmentation	8514	KCNAB2	ORPHA:1606
HP:0007730	Iris hypopigmentation	473	RERE	ORPHA:1606
HP:0007730	Iris hypopigmentation	63976	PRDM16	ORPHA:1606
HP:0007730	Iris hypopigmentation	54897	CASZ1	ORPHA:1606
HP:0007730	Iris hypopigmentation	8546	AP3B1	OMIM:608233
HP:0007730	Iris hypopigmentation	1130	LYST	ORPHA:352723
HP:0007730	Iris hypopigmentation	1130	LYST	OMIM:214500
HP:0007730	Iris hypopigmentation	4935	GPR143	ORPHA:54
HP:0007730	Iris hypopigmentation	4935	GPR143	OMIM:300500
HP:0007730	Iris hypopigmentation	89781	HPS4	OMIM:614073
HP:0007730	Iris hypopigmentation	11234	HPS5	OMIM:614074
HP:0007730	Iris hypopigmentation	26258	BLOC1S6	OMIM:614171
HP:0007730	Iris hypopigmentation	388552	BLOC1S3	OMIM:614077
HP:0007730	Iris hypopigmentation	79803	HPS6	OMIM:614075
HP:0007730	Iris hypopigmentation	84062	DTNBP1	OMIM:614076
HP:0007730	Iris hypopigmentation	6663	SOX10	OMIM:611584
HP:0007730	Iris hypopigmentation	51151	SLC45A2	ORPHA:79435
HP:0007730	Iris hypopigmentation	7399	USH2A	ORPHA:231178
HP:0007730	Iris hypopigmentation	79955	PDZD7	ORPHA:231178
HP:0007730	Iris hypopigmentation	4647	MYO7A	ORPHA:231178
HP:0007730	Iris hypopigmentation	4647	MYO7A	ORPHA:231169
HP:0007730	Iris hypopigmentation	25861	WHRN	ORPHA:231178
HP:0007730	Iris hypopigmentation	84059	ADGRV1	ORPHA:231178
HP:0007730	Iris hypopigmentation	7681	MKRN3	OMIM:176270
HP:0007730	Iris hypopigmentation	3653	IPW	OMIM:176270
HP:0007730	Iris hypopigmentation	54551	MAGEL2	OMIM:176270
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:98754
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177904
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177901
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177910
HP:0007730	Iris hypopigmentation	791114	PWRN1	OMIM:176270
HP:0007730	Iris hypopigmentation	100033413	SNORD116-1	OMIM:176270
HP:0007730	Iris hypopigmentation	8924	HERC2	OMIM:176270
HP:0007730	Iris hypopigmentation	145624	PWAR1	OMIM:176270
HP:0007730	Iris hypopigmentation	23742	NPAP1	OMIM:176270
HP:0007730	Iris hypopigmentation	338433	SNORD115-1	OMIM:176270
HP:0007730	Iris hypopigmentation	7401	CLRN1	ORPHA:231183
HP:0007730	Iris hypopigmentation	22901	ARSG	ORPHA:231183
HP:0007730	Iris hypopigmentation	4575	MT-TS2	ORPHA:231183
HP:0007730	Iris hypopigmentation	3035	HARS1	ORPHA:231183
HP:0007730	Iris hypopigmentation	84131	CEP78	ORPHA:231183
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:98754
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177904
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177901
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177910
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177907
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:411515
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:98754
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177904
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177901
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177910
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:98754
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:98794
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:177904
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:177901
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:79432
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:98794
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:98795
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:411511
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:411515
HP:0007730	Iris hypopigmentation	5961	PRPH2	ORPHA:99000
HP:0007730	Iris hypopigmentation	7439	BEST1	ORPHA:99000
HP:0007730	Iris hypopigmentation	50939	IMPG2	ORPHA:99000
HP:0007730	Iris hypopigmentation	3617	IMPG1	ORPHA:99000
HP:0007730	Iris hypopigmentation	5308	PITX2	OMIM:137600
HP:0007730	Iris hypopigmentation	284058	KANSL1	OMIM:610443
HP:0007730	Iris hypopigmentation	64072	CDH23	ORPHA:231169
HP:0007730	Iris hypopigmentation	10083	USH1C	ORPHA:231169
HP:0007730	Iris hypopigmentation	124590	USH1G	ORPHA:231169
HP:0007730	Iris hypopigmentation	83715	ESPN	ORPHA:231169
HP:0007730	Iris hypopigmentation	10518	CIB2	ORPHA:231169
HP:0007730	Iris hypopigmentation	65217	PCDH15	ORPHA:231169
HP:0007730	Iris hypopigmentation	64132	XYLT2	ORPHA:85194
HP:0007730	Iris hypopigmentation	57194	ATP10A	ORPHA:411515
HP:0007730	Iris hypopigmentation	4157	MC1R	ORPHA:79432
HP:0007730	Iris hypopigmentation	4644	MYO5A	ORPHA:79476
HP:0007730	Iris hypopigmentation	4644	MYO5A	ORPHA:79478
HP:0007730	Iris hypopigmentation	7306	TYRP1	ORPHA:79433
HP:0007730	Iris hypopigmentation	5873	RAB27A	ORPHA:79477
HP:0007730	Iris hypopigmentation	79083	MLPH	ORPHA:79478
HP:0007731	Chorioretinal dysplasia	85378	TUBGCP6	OMIM:251270
HP:0007731	Chorioretinal dysplasia	27229	TUBGCP4	OMIM:616335
HP:0007731	Chorioretinal dysplasia	3832	KIF11	ORPHA:2526
HP:0007731	Chorioretinal dysplasia	3832	KIF11	OMIM:152950
HP:0007731	Chorioretinal dysplasia	4952	OCRL	ORPHA:534
HP:0007731	Chorioretinal dysplasia	84892	POMGNT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	148789	B3GALNT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	79147	FKRP	ORPHA:899
HP:0007731	Chorioretinal dysplasia	29954	POMT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	9215	LARGE1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	1282	COL4A1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	729920	CRPPA	ORPHA:899
HP:0007731	Chorioretinal dysplasia	10329	RXYLT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	1605	DAG1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	11041	B4GAT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	10585	POMT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	84197	POMK	ORPHA:899
HP:0007731	Chorioretinal dysplasia	2218	FKTN	ORPHA:899
HP:0007731	Chorioretinal dysplasia	55624	POMGNT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	54539	NDUFB11	ORPHA:2556
HP:0007731	Chorioretinal dysplasia	1349	COX7B	ORPHA:2556
HP:0007731	Chorioretinal dysplasia	3052	HCCS	ORPHA:2556
HP:0007732	Lacrimal gland hypoplasia	6663	SOX10	OMIM:613266
HP:0007732	Lacrimal gland hypoplasia	2263	FGFR2	OMIM:149730
HP:0007732	Lacrimal gland hypoplasia	668	FOXL2	ORPHA:572333
HP:0007732	Lacrimal gland hypoplasia	2255	FGF10	OMIM:180920
HP:0007733	Laterally curved eyebrow	54880	BCOR	OMIM:300166
HP:0007734	Enlarged lacrimal glands	3123	HLA-DRB1	OMIM:181000
HP:0007734	Enlarged lacrimal glands	3123	HLA-DRB1	ORPHA:797
HP:0007734	Enlarged lacrimal glands	56244	BTNL2	ORPHA:797
HP:0000570	Abnormal saccadic eye movements	23646	PLD3	OMIM:617770
HP:0000570	Abnormal saccadic eye movements	23446	SLC44A1	OMIM:618868
HP:0000570	Abnormal saccadic eye movements	5828	PEX2	OMIM:614867
HP:0000570	Abnormal saccadic eye movements	60481	ELOVL5	OMIM:615957
HP:0000570	Abnormal saccadic eye movements	60481	ELOVL5	ORPHA:423296
HP:0000570	Abnormal saccadic eye movements	492	ATP2B3	OMIM:302500
HP:0000570	Abnormal saccadic eye movements	724066	ATXN8	OMIM:608768
HP:0000570	Abnormal saccadic eye movements	6315	ATXN8OS	OMIM:608768
HP:0000570	Abnormal saccadic eye movements	6472	SHMT2	OMIM:619121
HP:0000570	Abnormal saccadic eye movements	6311	ATXN2	OMIM:183090
HP:0000570	Abnormal saccadic eye movements	6311	ATXN2	ORPHA:98756
HP:0000570	Abnormal saccadic eye movements	5173	PDYN	ORPHA:101108
HP:0000570	Abnormal saccadic eye movements	5173	PDYN	OMIM:610245
HP:0000570	Abnormal saccadic eye movements	10528	NOP56	OMIM:614153
HP:0000570	Abnormal saccadic eye movements	10528	NOP56	ORPHA:276198
HP:0000570	Abnormal saccadic eye movements	10939	AFG3L2	ORPHA:101109
HP:0000570	Abnormal saccadic eye movements	10939	AFG3L2	OMIM:610246
HP:0000570	Abnormal saccadic eye movements	23287	AGTPBP1	OMIM:618276
HP:0000570	Abnormal saccadic eye movements	11261	CHP1	OMIM:618438
HP:0000570	Abnormal saccadic eye movements	6314	ATXN7	OMIM:164500
HP:0000570	Abnormal saccadic eye movements	6310	ATXN1	ORPHA:98755
HP:0000570	Abnormal saccadic eye movements	6310	ATXN1	OMIM:164400
HP:0000570	Abnormal saccadic eye movements	343641	TGM6	OMIM:613908
HP:0000570	Abnormal saccadic eye movements	7143	TNR	OMIM:619653
HP:0000570	Abnormal saccadic eye movements	55157	DARS2	ORPHA:137898
HP:0000570	Abnormal saccadic eye movements	51079	NDUFA13	OMIM:618249
HP:0000570	Abnormal saccadic eye movements	23533	PIK3R5	OMIM:615217
HP:0000570	Abnormal saccadic eye movements	6843	VAMP1	OMIM:108600
HP:0000570	Abnormal saccadic eye movements	6843	VAMP1	ORPHA:251282
HP:0000570	Abnormal saccadic eye movements	57679	ALS2	OMIM:607225
HP:0000570	Abnormal saccadic eye movements	23400	ATP13A2	OMIM:606693
HP:0000570	Abnormal saccadic eye movements	23400	ATP13A2	ORPHA:306674
HP:0000570	Abnormal saccadic eye movements	51102	MECR	OMIM:617282
HP:0000570	Abnormal saccadic eye movements	127833	SYT2	OMIM:619461
HP:0000570	Abnormal saccadic eye movements	25793	FBXO7	ORPHA:171695
HP:0000570	Abnormal saccadic eye movements	25793	FBXO7	OMIM:260300
HP:0000570	Abnormal saccadic eye movements	6622	SNCA	ORPHA:171695
HP:0000570	Abnormal saccadic eye movements	23230	VPS13A	ORPHA:2388
HP:0000570	Abnormal saccadic eye movements	8449	DHX16	OMIM:618733
HP:0000570	Abnormal saccadic eye movements	57165	GJC2	OMIM:613206
HP:0000570	Abnormal saccadic eye movements	6342	SCP2	OMIM:613724
HP:0000570	Abnormal saccadic eye movements	55129	ANO10	OMIM:613728
HP:0000570	Abnormal saccadic eye movements	547	KIF1A	ORPHA:101010
HP:0000570	Abnormal saccadic eye movements	6658	SOX3	ORPHA:67045
HP:0000570	Abnormal saccadic eye movements	5621	PRNP	ORPHA:157941
HP:0000570	Abnormal saccadic eye movements	2629	GBA1	ORPHA:2072
HP:0000570	Abnormal saccadic eye movements	23345	SYNE1	ORPHA:88644
HP:0000570	Abnormal saccadic eye movements	10381	TUBB3	ORPHA:300570
HP:0000570	Abnormal saccadic eye movements	57704	GBA2	ORPHA:352641
HP:0000570	Abnormal saccadic eye movements	11284	PNKP	ORPHA:459033
HP:0000570	Abnormal saccadic eye movements	51259	TMEM216	OMIM:608091
HP:0000570	Abnormal saccadic eye movements	56623	INPP5E	OMIM:213300
HP:0000570	Abnormal saccadic eye movements	2395	FXN	ORPHA:95
HP:0000570	Abnormal saccadic eye movements	3708	ITPR1	ORPHA:208513
HP:0000570	Abnormal saccadic eye movements	55187	VPS13D	ORPHA:95434
HP:0000570	Abnormal saccadic eye movements	27072	VPS41	ORPHA:95434
HP:0000570	Abnormal saccadic eye movements	25915	NDUFAF3	ORPHA:70474
HP:0000570	Abnormal saccadic eye movements	4714	NDUFB8	ORPHA:70474
HP:0000570	Abnormal saccadic eye movements	4720	NDUFS2	ORPHA:70474
HP:0000570	Abnormal saccadic eye movements	9997	SCO2	ORPHA:70474
HP:0000570	Abnormal saccadic eye movements	6834	SURF1	ORPHA:70474
HP:0000570	Abnormal saccadic eye movements	4311	MME	ORPHA:497764
HP:0000570	Abnormal saccadic eye movements	4311	MME	OMIM:617018
HP:0000570	Abnormal saccadic eye movements	8398	PLA2G6	ORPHA:199351
HP:0000570	Abnormal saccadic eye movements	84504	NKX6-2	OMIM:617560
HP:0000570	Abnormal saccadic eye movements	84504	NKX6-2	ORPHA:527497
HP:0000570	Abnormal saccadic eye movements	8913	CACNA1G	ORPHA:458803
HP:0000570	Abnormal saccadic eye movements	84274	COQ5	OMIM:619028
HP:0000570	Abnormal saccadic eye movements	6712	SPTBN2	OMIM:615386
HP:0000570	Abnormal saccadic eye movements	4137	MAPT	ORPHA:240094
HP:0000570	Abnormal saccadic eye movements	54840	APTX	OMIM:208920
HP:0000570	Abnormal saccadic eye movements	2911	GRM1	OMIM:614831
HP:0000570	Abnormal saccadic eye movements	2911	GRM1	ORPHA:324262
HP:0000570	Abnormal saccadic eye movements	6507	SLC1A3	OMIM:612656
HP:0000570	Abnormal saccadic eye movements	57462	MYORG	OMIM:618317
HP:0000570	Abnormal saccadic eye movements	10382	TUBB4A	OMIM:612438
HP:0000570	Abnormal saccadic eye movements	9829	DNAJC6	OMIM:615528
HP:0000570	Abnormal saccadic eye movements	4361	MRE11	OMIM:604391
HP:0000570	Abnormal saccadic eye movements	4867	NPHP1	OMIM:609583
HP:0000570	Abnormal saccadic eye movements	1200	TPP1	ORPHA:284324
HP:0000570	Abnormal saccadic eye movements	4287	ATXN3	OMIM:109150
HP:0000570	Abnormal saccadic eye movements	1938	EEF2	OMIM:609306
HP:0000570	Abnormal saccadic eye movements	1938	EEF2	ORPHA:101112
HP:0000570	Abnormal saccadic eye movements	51271	UBAP1	OMIM:618418
HP:0000570	Abnormal saccadic eye movements	5192	PEX10	OMIM:614871
HP:0000570	Abnormal saccadic eye movements	57410	SCYL1	ORPHA:466794
HP:0000570	Abnormal saccadic eye movements	9927	MFN2	OMIM:601152
HP:0000570	Abnormal saccadic eye movements	10935	PRDX3	OMIM:619862
HP:0000570	Abnormal saccadic eye movements	7515	XRCC1	OMIM:617633
HP:0000570	Abnormal saccadic eye movements	54834	GDAP2	OMIM:618369
HP:0000570	Abnormal saccadic eye movements	3781	KCNN2	OMIM:619724
HP:0000570	Abnormal saccadic eye movements	84978	FRMD5	OMIM:620094
HP:0000570	Abnormal saccadic eye movements	23095	KIF1B	OMIM:256700
HP:0000570	Abnormal saccadic eye movements	339453	TMEM240	OMIM:607454
HP:0000570	Abnormal saccadic eye movements	10312	TCIRG1	ORPHA:667
HP:0000570	Abnormal saccadic eye movements	1186	CLCN7	ORPHA:667
HP:0000570	Abnormal saccadic eye movements	29887	SNX10	ORPHA:667
HP:0000570	Abnormal saccadic eye movements	8600	TNFSF11	ORPHA:667
HP:0000570	Abnormal saccadic eye movements	6531	SLC6A3	OMIM:613135
HP:0000570	Abnormal saccadic eye movements	773	CACNA1A	ORPHA:2131
HP:0000570	Abnormal saccadic eye movements	477	ATP1A2	ORPHA:2131
HP:0000570	Abnormal saccadic eye movements	478	ATP1A3	ORPHA:2131
HP:0000570	Abnormal saccadic eye movements	7355	SLC35A2	OMIM:300896
HP:0000571	Hypometric saccades	4311	MME	ORPHA:497764
HP:0000571	Hypometric saccades	4311	MME	OMIM:617018
HP:0000571	Hypometric saccades	8398	PLA2G6	ORPHA:199351
HP:0000571	Hypometric saccades	84504	NKX6-2	OMIM:617560
HP:0000571	Hypometric saccades	84504	NKX6-2	ORPHA:527497
HP:0000571	Hypometric saccades	8913	CACNA1G	ORPHA:458803
HP:0000571	Hypometric saccades	84274	COQ5	OMIM:619028
HP:0000571	Hypometric saccades	6712	SPTBN2	OMIM:615386
HP:0000571	Hypometric saccades	4137	MAPT	ORPHA:240094
HP:0000571	Hypometric saccades	54840	APTX	OMIM:208920
HP:0000571	Hypometric saccades	2911	GRM1	OMIM:614831
HP:0000571	Hypometric saccades	2911	GRM1	ORPHA:324262
HP:0000571	Hypometric saccades	6507	SLC1A3	OMIM:612656
HP:0000571	Hypometric saccades	57462	MYORG	OMIM:618317
HP:0000571	Hypometric saccades	10382	TUBB4A	OMIM:612438
HP:0000571	Hypometric saccades	9829	DNAJC6	OMIM:615528
HP:0000571	Hypometric saccades	4361	MRE11	OMIM:604391
HP:0000571	Hypometric saccades	4867	NPHP1	OMIM:609583
HP:0000571	Hypometric saccades	2629	GBA1	OMIM:231005
HP:0000572	Visual loss	3735	KARS1	OMIM:619196
HP:0000572	Visual loss	1121	CHM	OMIM:303100
HP:0000572	Visual loss	1121	CHM	ORPHA:180
HP:0000572	Visual loss	11277	TREX1	OMIM:192315
HP:0000572	Visual loss	157657	CFAP418	OMIM:614500
HP:0000572	Visual loss	11340	EXOSC8	ORPHA:2254
HP:0000572	Visual loss	5393	EXOSC9	ORPHA:2254
HP:0000572	Visual loss	23287	AGTPBP1	ORPHA:2254
HP:0000572	Visual loss	51010	EXOSC3	ORPHA:2254
HP:0000572	Visual loss	7443	VRK1	ORPHA:2254
HP:0000572	Visual loss	91137	SLC25A46	ORPHA:2254
HP:0000572	Visual loss	91137	SLC25A46	OMIM:616505
HP:0000572	Visual loss	6247	RS1	OMIM:312700
HP:0000572	Visual loss	1308	COL17A1	ORPHA:293381
HP:0000572	Visual loss	54982	CLN6	OMIM:601780
HP:0000572	Visual loss	10908	PNPLA6	OMIM:215470
HP:0000572	Visual loss	4036	LRP2	OMIM:222448
HP:0000572	Visual loss	4036	LRP2	ORPHA:2143
HP:0000572	Visual loss	6452	SH3BP2	ORPHA:184
HP:0000572	Visual loss	6017	RLBP1	ORPHA:52427
HP:0000572	Visual loss	6017	RLBP1	ORPHA:85128
HP:0000572	Visual loss	6010	RHO	ORPHA:52427
HP:0000572	Visual loss	5959	RDH5	ORPHA:52427
HP:0000572	Visual loss	79587	CARS2	ORPHA:477774
HP:0000572	Visual loss	92211	CDHR1	OMIM:613660
HP:0000572	Visual loss	4221	MEN1	ORPHA:2965
HP:0000572	Visual loss	9049	AIP	ORPHA:2965
HP:0000572	Visual loss	10461	MERTK	OMIM:613862
HP:0000572	Visual loss	1200	TPP1	OMIM:204500
HP:0000572	Visual loss	348	APOE	OMIM:603075
HP:0000572	Visual loss	83872	HMCN1	OMIM:603075
HP:0000572	Visual loss	3078	CFHR1	OMIM:603075
HP:0000572	Visual loss	10878	CFHR3	OMIM:603075
HP:0000572	Visual loss	4942	OAT	ORPHA:414
HP:0000572	Visual loss	403	ARL3	OMIM:618161
HP:0000572	Visual loss	5264	PHYH	ORPHA:773
HP:0000572	Visual loss	5191	PEX7	ORPHA:773
HP:0000572	Visual loss	6651	SON	ORPHA:500150
HP:0000572	Visual loss	64218	SEMA4A	OMIM:610283
HP:0000572	Visual loss	5538	PPT1	OMIM:256730
HP:0000572	Visual loss	79797	ZNF408	OMIM:616468
HP:0000572	Visual loss	1203	CLN5	OMIM:256731
HP:0000572	Visual loss	8792	TNFRSF11A	OMIM:612301
HP:0000572	Visual loss	1634	DCN	OMIM:610048
HP:0000572	Visual loss	1201	CLN3	ORPHA:228346
HP:0000572	Visual loss	1201	CLN3	OMIM:204200
HP:0000572	Visual loss	2055	CLN8	ORPHA:1947
HP:0000572	Visual loss	2055	CLN8	OMIM:600143
HP:0000572	Visual loss	285440	CYP4V2	OMIM:210370
HP:0000572	Visual loss	4547	MTTP	ORPHA:14
HP:0000572	Visual loss	83636	C19orf12	OMIM:614298
HP:0000572	Visual loss	51109	RDH11	ORPHA:436245
HP:0000572	Visual loss	57670	KIAA1549	OMIM:618613
HP:0000572	Visual loss	5130	PCYT1A	OMIM:608940
HP:0000572	Visual loss	26146	TRAF3IP1	ORPHA:3156
HP:0000572	Visual loss	9657	IQCB1	ORPHA:3156
HP:0000572	Visual loss	10806	SDCCAG8	ORPHA:3156
HP:0000572	Visual loss	27130	INVS	ORPHA:3156
HP:0000572	Visual loss	80184	CEP290	ORPHA:3156
HP:0000572	Visual loss	4867	NPHP1	ORPHA:3156
HP:0000572	Visual loss	261734	NPHP4	ORPHA:3156
HP:0000572	Visual loss	57728	WDR19	ORPHA:3156
HP:0000572	Visual loss	27031	NPHP3	ORPHA:3156
HP:0000572	Visual loss	22897	CEP164	ORPHA:3156
HP:0000572	Visual loss	4976	OPA1	OMIM:210000
HP:0000572	Visual loss	4976	OPA1	ORPHA:1215
HP:0000572	Visual loss	4763	NF1	ORPHA:97685
HP:0000572	Visual loss	50964	SOST	OMIM:269500
HP:0000572	Visual loss	26191	PTPN22	ORPHA:397
HP:0000572	Visual loss	26191	PTPN22	ORPHA:85410
HP:0000572	Visual loss	3106	HLA-B	ORPHA:397
HP:0000572	Visual loss	3123	HLA-DRB1	ORPHA:397
HP:0000572	Visual loss	8974	P4HA2	ORPHA:397
HP:0000572	Visual loss	4558	MT-TF	ORPHA:550
HP:0000572	Visual loss	4572	MT-TQ	ORPHA:550
HP:0000572	Visual loss	4512	MT-CO1	ORPHA:550
HP:0000572	Visual loss	4513	MT-CO2	ORPHA:550
HP:0000572	Visual loss	4514	MT-CO3	ORPHA:550
HP:0000572	Visual loss	4514	MT-CO3	OMIM:535000
HP:0000572	Visual loss	4578	MT-TW	ORPHA:550
HP:0000572	Visual loss	4540	MT-ND5	ORPHA:550
HP:0000572	Visual loss	4540	MT-ND5	OMIM:535000
HP:0000572	Visual loss	4541	MT-ND6	ORPHA:550
HP:0000572	Visual loss	4541	MT-ND6	OMIM:535000
HP:0000572	Visual loss	4535	MT-ND1	ORPHA:550
HP:0000572	Visual loss	4535	MT-ND1	OMIM:535000
HP:0000572	Visual loss	4538	MT-ND4	ORPHA:550
HP:0000572	Visual loss	4538	MT-ND4	OMIM:535000
HP:0000572	Visual loss	4567	MT-TL1	ORPHA:550
HP:0000572	Visual loss	4574	MT-TS1	ORPHA:550
HP:0000572	Visual loss	4575	MT-TS2	ORPHA:550
HP:0000572	Visual loss	4575	MT-TS2	ORPHA:231183
HP:0000572	Visual loss	4564	MT-TH	ORPHA:550
HP:0000572	Visual loss	6775	STAT4	ORPHA:85410
HP:0000572	Visual loss	3560	IL2RB	ORPHA:85410
HP:0000572	Visual loss	79722	ANKRD55	ORPHA:85410
HP:0000572	Visual loss	919	CD247	ORPHA:85410
HP:0000572	Visual loss	3559	IL2RA	ORPHA:85410
HP:0000572	Visual loss	5771	PTPN2	ORPHA:85410
HP:0000572	Visual loss	84627	ZNF469	OMIM:229200
HP:0000572	Visual loss	84627	ZNF469	ORPHA:90354
HP:0000572	Visual loss	4758	NEU1	ORPHA:93399
HP:0000572	Visual loss	4758	NEU1	ORPHA:93400
HP:0000572	Visual loss	79581	SLC52A2	OMIM:614707
HP:0000572	Visual loss	7045	TGFBI	ORPHA:98964
HP:0000572	Visual loss	79848	CSPP1	ORPHA:397715
HP:0000572	Visual loss	9786	KIAA0586	ORPHA:397715
HP:0000572	Visual loss	4312	MMP1	ORPHA:79408
HP:0000572	Visual loss	1294	COL7A1	ORPHA:79408
HP:0000572	Visual loss	1294	COL7A1	ORPHA:89842
HP:0000572	Visual loss	2581	GALC	ORPHA:206443
HP:0000572	Visual loss	2581	GALC	ORPHA:206448
HP:0000572	Visual loss	2581	GALC	ORPHA:206436
HP:0000572	Visual loss	29887	SNX10	OMIM:615085
HP:0000572	Visual loss	114902	C1QTNF5	ORPHA:67042
HP:0000572	Visual loss	114902	C1QTNF5	OMIM:605670
HP:0000572	Visual loss	478	ATP1A3	OMIM:601338
HP:0000572	Visual loss	79644	SRD5A3	OMIM:612379
HP:0000572	Visual loss	79644	SRD5A3	ORPHA:324737
HP:0000572	Visual loss	54806	AHI1	ORPHA:220493
HP:0000572	Visual loss	56623	INPP5E	ORPHA:220493
HP:0000572	Visual loss	153241	CEP120	ORPHA:220493
HP:0000572	Visual loss	54903	MKS1	ORPHA:220493
HP:0000572	Visual loss	95681	CEP41	ORPHA:220493
HP:0000572	Visual loss	10560	SLC19A2	ORPHA:49827
HP:0000572	Visual loss	10560	SLC19A2	OMIM:249270
HP:0000572	Visual loss	154881	KCTD7	OMIM:611726
HP:0000572	Visual loss	8869	ST3GAL5	OMIM:609056
HP:0000572	Visual loss	1340	COX6B1	OMIM:619051
HP:0000572	Visual loss	3105	HLA-A	ORPHA:179
HP:0000572	Visual loss	6657	SOX2	ORPHA:77298
HP:0000572	Visual loss	4810	NHS	OMIM:302350
HP:0000572	Visual loss	4810	NHS	ORPHA:627
HP:0000572	Visual loss	27235	COQ2	OMIM:607426
HP:0000572	Visual loss	28982	FLVCR1	ORPHA:88628
HP:0000572	Visual loss	7345	UCHL1	OMIM:615491
HP:0000572	Visual loss	9512	PMPCB	OMIM:617954
HP:0000572	Visual loss	10381	TUBB3	ORPHA:300570
HP:0000572	Visual loss	2058	EPRS1	OMIM:617951
HP:0000572	Visual loss	10342	TFG	OMIM:615658
HP:0000572	Visual loss	9326	ZNHIT3	ORPHA:2836
HP:0000572	Visual loss	547	KIF1A	ORPHA:2836
HP:0000572	Visual loss	686	BTD	OMIM:253260
HP:0000572	Visual loss	1509	CTSD	OMIM:610127
HP:0000572	Visual loss	4047	LSS	OMIM:616509
HP:0000572	Visual loss	7840	ALMS1	OMIM:203800
HP:0000572	Visual loss	7840	ALMS1	ORPHA:64
HP:0000572	Visual loss	4647	MYO7A	OMIM:276900
HP:0000572	Visual loss	4647	MYO7A	ORPHA:231178
HP:0000572	Visual loss	4647	MYO7A	ORPHA:231169
HP:0000572	Visual loss	10083	USH1C	OMIM:276900
HP:0000572	Visual loss	10083	USH1C	ORPHA:231169
HP:0000572	Visual loss	2263	FGFR2	ORPHA:93259
HP:0000572	Visual loss	54539	NDUFB11	ORPHA:2556
HP:0000572	Visual loss	1349	COX7B	ORPHA:2556
HP:0000572	Visual loss	3052	HCCS	ORPHA:2556
HP:0000572	Visual loss	6898	TAT	ORPHA:28378
HP:0000572	Visual loss	2778	GNAS	ORPHA:562
HP:0000572	Visual loss	1282	COL4A1	OMIM:180000
HP:0000572	Visual loss	215	ABCD1	OMIM:300100
HP:0000572	Visual loss	5631	PRPS1	OMIM:301835
HP:0000572	Visual loss	1280	COL2A1	ORPHA:90653
HP:0000572	Visual loss	80781	COL18A1	ORPHA:1571
HP:0000572	Visual loss	5062	PAK2	ORPHA:1571
HP:0000572	Visual loss	64132	XYLT2	ORPHA:85194
HP:0000572	Visual loss	80216	ALPK1	OMIM:614979
HP:0000572	Visual loss	4854	NOTCH3	OMIM:125310
HP:0000572	Visual loss	3028	HSD17B10	ORPHA:391428
HP:0000572	Visual loss	3028	HSD17B10	OMIM:300438
HP:0000572	Visual loss	2202	EFEMP1	ORPHA:75376
HP:0000572	Visual loss	3075	CFH	ORPHA:75376
HP:0000572	Visual loss	3426	CFI	ORPHA:75376
HP:0000572	Visual loss	167691	LCA5	OMIM:604537
HP:0000572	Visual loss	10804	GJB6	ORPHA:477
HP:0000572	Visual loss	2706	GJB2	ORPHA:477
HP:0000572	Visual loss	7399	USH2A	ORPHA:231178
HP:0000572	Visual loss	79955	PDZD7	ORPHA:231178
HP:0000572	Visual loss	25861	WHRN	ORPHA:231178
HP:0000572	Visual loss	84059	ADGRV1	ORPHA:231178
HP:0000572	Visual loss	23347	SMCHD1	ORPHA:2250
HP:0000572	Visual loss	5080	PAX6	ORPHA:250923
HP:0000572	Visual loss	2296	FOXC1	ORPHA:250923
HP:0000572	Visual loss	54765	TRIM44	ORPHA:250923
HP:0000572	Visual loss	6711	SPTBN1	OMIM:619475
HP:0000572	Visual loss	5428	POLG	OMIM:203700
HP:0000572	Visual loss	8314	BAP1	ORPHA:39044
HP:0000572	Visual loss	57105	CYSLTR2	ORPHA:39044
HP:0000572	Visual loss	2776	GNAQ	ORPHA:39044
HP:0000572	Visual loss	2767	GNA11	ORPHA:39044
HP:0000572	Visual loss	23451	SF3B1	ORPHA:39044
HP:0000572	Visual loss	2624	GATA2	ORPHA:3226
HP:0000572	Visual loss	54880	BCOR	OMIM:300166
HP:0000572	Visual loss	10319	LAMC3	OMIM:614115
HP:0000572	Visual loss	3832	KIF11	ORPHA:2526
HP:0000572	Visual loss	7078	TIMP3	ORPHA:59181
HP:0000572	Visual loss	256471	MFSD8	OMIM:610951
HP:0000572	Visual loss	760	CA2	OMIM:259730
HP:0000572	Visual loss	7401	CLRN1	ORPHA:231183
HP:0000572	Visual loss	22901	ARSG	ORPHA:231183
HP:0000572	Visual loss	3035	HARS1	ORPHA:231183
HP:0000572	Visual loss	84131	CEP78	ORPHA:231183
HP:0000572	Visual loss	1186	CLCN7	OMIM:166600
HP:0000572	Visual loss	5961	PRPH2	ORPHA:75377
HP:0000572	Visual loss	3000	GUCY2D	ORPHA:75377
HP:0000572	Visual loss	2978	GUCA1A	ORPHA:75377
HP:0000572	Visual loss	11107	PRDM5	ORPHA:90354
HP:0000572	Visual loss	7428	VHL	ORPHA:892
HP:0000572	Visual loss	595	CCND1	ORPHA:892
HP:0000572	Visual loss	5422	POLA1	OMIM:301220
HP:0000572	Visual loss	24	ABCA4	OMIM:604116
HP:0000572	Visual loss	5230	PGK1	OMIM:300653
HP:0000572	Visual loss	6949	TCOF1	OMIM:154500
HP:0000572	Visual loss	5194	PEX13	OMIM:614885
HP:0000572	Visual loss	2200	FBN1	ORPHA:3449
HP:0000572	Visual loss	4053	LTBP2	ORPHA:3449
HP:0000572	Visual loss	4053	LTBP2	ORPHA:98976
HP:0000572	Visual loss	81794	ADAMTS10	ORPHA:3449
HP:0000572	Visual loss	57465	TBC1D24	OMIM:615338
HP:0000572	Visual loss	3295	HSD17B4	OMIM:261515
HP:0000572	Visual loss	63916	ELMO2	OMIM:606893
HP:0000572	Visual loss	51322	WAC	ORPHA:466950
HP:0000572	Visual loss	5660	PSAP	ORPHA:206436
HP:0000572	Visual loss	55812	SPATA7	OMIM:604232
HP:0000572	Visual loss	64127	NOD2	ORPHA:90340
HP:0000572	Visual loss	6314	ATXN7	ORPHA:94147
HP:0000572	Visual loss	1678	TIMM8A	ORPHA:52368
HP:0000572	Visual loss	3030	HADHA	ORPHA:5
HP:0000572	Visual loss	64072	CDH23	ORPHA:231169
HP:0000572	Visual loss	124590	USH1G	ORPHA:231169
HP:0000572	Visual loss	83715	ESPN	ORPHA:231169
HP:0000572	Visual loss	10518	CIB2	ORPHA:231169
HP:0000572	Visual loss	65217	PCDH15	ORPHA:231169
HP:0000572	Visual loss	9742	IFT140	OMIM:266920
HP:0000572	Visual loss	8398	PLA2G6	OMIM:256600
HP:0000572	Visual loss	7957	EPM2A	OMIM:254780
HP:0000572	Visual loss	378884	NHLRC1	OMIM:254780
HP:0000572	Visual loss	11232	POLG2	OMIM:619425
HP:0000572	Visual loss	4771	NF2	ORPHA:637
HP:0000572	Visual loss	1545	CYP1B1	ORPHA:98976
HP:0000572	Visual loss	4653	MYOC	ORPHA:98976
HP:0000572	Visual loss	7010	TEK	ORPHA:98976
HP:0000572	Visual loss	1462	VCAN	OMIM:143200
HP:0000572	Visual loss	4519	MT-CYB	OMIM:535000
HP:0000572	Visual loss	4508	MT-ATP6	OMIM:535000
HP:0000572	Visual loss	4539	MT-ND4L	OMIM:535000
HP:0000572	Visual loss	4536	MT-ND2	OMIM:535000
HP:0000572	Visual loss	6935	ZEB1	ORPHA:98974
HP:0000572	Visual loss	123624	AGBL1	ORPHA:98974
HP:0000572	Visual loss	6925	TCF4	ORPHA:98974
HP:0000572	Visual loss	83959	SLC4A11	ORPHA:98974
HP:0000572	Visual loss	1296	COL8A2	ORPHA:98974
HP:0000572	Visual loss	10059	DNM1L	OMIM:610708
HP:0000572	Visual loss	79152	FA2H	ORPHA:329308
HP:0000572	Visual loss	84839	RAX2	OMIM:610381
HP:0000572	Visual loss	94137	RP1L1	OMIM:613587
HP:0000572	Visual loss	6598	SMARCB1	ORPHA:2495
HP:0000572	Visual loss	5155	PDGFB	ORPHA:2495
HP:0000572	Visual loss	84231	TRAF7	ORPHA:2495
HP:0000572	Visual loss	6608	SMO	ORPHA:2495
HP:0000572	Visual loss	207	AKT1	ORPHA:2495
HP:0000572	Visual loss	5290	PIK3CA	ORPHA:2495
HP:0000572	Visual loss	7015	TERT	ORPHA:2495
HP:0000572	Visual loss	51684	SUFU	ORPHA:2495
HP:0000572	Visual loss	6605	SMARCE1	ORPHA:2495
HP:0000572	Visual loss	9927	MFN2	OMIM:601152
HP:0000572	Visual loss	84277	DNAJC30	ORPHA:104
HP:0000572	Visual loss	4720	NDUFS2	ORPHA:104
HP:0000572	Visual loss	1499	CTNNB1	ORPHA:54595
HP:0000572	Visual loss	673	BRAF	ORPHA:54595
HP:0000572	Visual loss	51594	NBAS	OMIM:614800
HP:0000573	Retinal hemorrhage	2639	GCDH	ORPHA:25
HP:0000573	Retinal hemorrhage	3458	IFNG	ORPHA:88
HP:0000573	Retinal hemorrhage	5551	PRF1	ORPHA:88
HP:0000573	Retinal hemorrhage	7012	TERC	ORPHA:88
HP:0000573	Retinal hemorrhage	51119	SBDS	ORPHA:88
HP:0000573	Retinal hemorrhage	7015	TERT	ORPHA:88
HP:0000573	Retinal hemorrhage	11277	TREX1	OMIM:192315
HP:0000573	Retinal hemorrhage	5167	ENPP1	ORPHA:51608
HP:0000573	Retinal hemorrhage	5167	ENPP1	ORPHA:758
HP:0000573	Retinal hemorrhage	368	ABCC6	ORPHA:51608
HP:0000573	Retinal hemorrhage	368	ABCC6	OMIM:177850
HP:0000573	Retinal hemorrhage	368	ABCC6	OMIM:264800
HP:0000573	Retinal hemorrhage	368	ABCC6	ORPHA:758
HP:0000573	Retinal hemorrhage	1161	ERCC8	ORPHA:90324
HP:0000573	Retinal hemorrhage	2074	ERCC6	ORPHA:90324
HP:0000573	Retinal hemorrhage	1282	COL4A1	OMIM:611773
HP:0000573	Retinal hemorrhage	1282	COL4A1	OMIM:175780
HP:0000573	Retinal hemorrhage	1282	COL4A1	OMIM:180000
HP:0000573	Retinal hemorrhage	3913	LAMB2	OMIM:609049
HP:0000573	Retinal hemorrhage	8517	IKBKG	ORPHA:464
HP:0000573	Retinal hemorrhage	8517	IKBKG	OMIM:308300
HP:0000573	Retinal hemorrhage	4615	MYD88	ORPHA:33226
HP:0000573	Retinal hemorrhage	64131	XYLT1	OMIM:264800
HP:0000573	Retinal hemorrhage	64132	XYLT2	OMIM:264800
HP:0000573	Retinal hemorrhage	1785	DNM2	OMIM:615368
HP:0000573	Retinal hemorrhage	667	DST	OMIM:614653
HP:0000573	Retinal hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0000573	Retinal hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0000573	Retinal hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0000573	Retinal hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0000573	Retinal hemorrhage	3075	CFH	ORPHA:75376
HP:0000573	Retinal hemorrhage	3426	CFI	ORPHA:75376
HP:0000573	Retinal hemorrhage	348	APOE	OMIM:603075
HP:0000573	Retinal hemorrhage	83872	HMCN1	OMIM:603075
HP:0000573	Retinal hemorrhage	3078	CFHR1	OMIM:603075
HP:0000573	Retinal hemorrhage	10878	CFHR3	OMIM:603075
HP:0000575	Scotoma	4547	MTTP	ORPHA:14
HP:0000575	Scotoma	64072	CDH23	ORPHA:231169
HP:0000575	Scotoma	10083	USH1C	ORPHA:231169
HP:0000575	Scotoma	124590	USH1G	ORPHA:231169
HP:0000575	Scotoma	83715	ESPN	ORPHA:231169
HP:0000575	Scotoma	10518	CIB2	ORPHA:231169
HP:0000575	Scotoma	4647	MYO7A	ORPHA:231169
HP:0000575	Scotoma	4647	MYO7A	ORPHA:231178
HP:0000575	Scotoma	65217	PCDH15	ORPHA:231169
HP:0000575	Scotoma	9129	PRPF3	OMIM:601414
HP:0000575	Scotoma	6101	RP1	OMIM:180100
HP:0000575	Scotoma	7399	USH2A	ORPHA:231178
HP:0000575	Scotoma	79955	PDZD7	ORPHA:231178
HP:0000575	Scotoma	25861	WHRN	ORPHA:231178
HP:0000575	Scotoma	84059	ADGRV1	ORPHA:231178
HP:0000575	Scotoma	91137	SLC25A46	OMIM:616505
HP:0000575	Scotoma	169522	KCNV2	OMIM:610356
HP:0000575	Scotoma	26504	CNNM4	OMIM:217080
HP:0000575	Scotoma	686	BTD	ORPHA:79241
HP:0000575	Scotoma	7401	CLRN1	ORPHA:231183
HP:0000575	Scotoma	4575	MT-TS2	ORPHA:231183
HP:0000575	Scotoma	3035	HARS1	ORPHA:231183
HP:0000575	Scotoma	84131	CEP78	ORPHA:231183
HP:0000575	Scotoma	773	CACNA1A	ORPHA:569
HP:0000575	Scotoma	112476	PRRT2	ORPHA:569
HP:0000575	Scotoma	6323	SCN1A	ORPHA:569
HP:0000575	Scotoma	477	ATP1A2	ORPHA:569
HP:0000575	Scotoma	114902	C1QTNF5	OMIM:605670
HP:0000575	Scotoma	10059	DNM1L	ORPHA:98673
HP:0000575	Scotoma	10059	DNM1L	OMIM:610708
HP:0000575	Scotoma	4976	OPA1	ORPHA:98673
HP:0000575	Scotoma	4976	OPA1	OMIM:165500
HP:0000575	Scotoma	4976	OPA1	OMIM:125250
HP:0000575	Scotoma	778	CACNA1F	OMIM:300476
HP:0000575	Scotoma	22926	ATF6	ORPHA:49382
HP:0000575	Scotoma	22926	ATF6	OMIM:616517
HP:0000575	Scotoma	5146	PDE6C	ORPHA:49382
HP:0000575	Scotoma	6103	RPGR	ORPHA:49382
HP:0000575	Scotoma	5149	PDE6H	ORPHA:49382
HP:0000575	Scotoma	2780	GNAT2	ORPHA:49382
HP:0000575	Scotoma	1261	CNGA3	ORPHA:49382
HP:0000575	Scotoma	54714	CNGB3	ORPHA:49382
HP:0000575	Scotoma	54714	CNGB3	ORPHA:827
HP:0000575	Scotoma	24	ABCA4	OMIM:604116
HP:0000575	Scotoma	24	ABCA4	ORPHA:827
HP:0000575	Scotoma	83394	PITPNM3	OMIM:600977
HP:0000575	Scotoma	80207	OPA3	ORPHA:67036
HP:0000575	Scotoma	5949	RBP3	OMIM:615233
HP:0000575	Scotoma	91574	MTRFR	OMIM:615035
HP:0000575	Scotoma	9364	RAB28	OMIM:615374
HP:0000575	Scotoma	282809	POC1B	OMIM:615973
HP:0000575	Scotoma	138050	HGSNAT	OMIM:616544
HP:0000575	Scotoma	285440	CYP4V2	ORPHA:41751
HP:0000575	Scotoma	8842	PROM1	OMIM:608051
HP:0000575	Scotoma	8842	PROM1	ORPHA:827
HP:0000575	Scotoma	8842	PROM1	OMIM:612657
HP:0000575	Scotoma	5961	PRPH2	ORPHA:827
HP:0000575	Scotoma	5961	PRPH2	ORPHA:52427
HP:0000575	Scotoma	6785	ELOVL4	ORPHA:827
HP:0000575	Scotoma	84233	TMEM126A	OMIM:612989
HP:0000575	Scotoma	1406	CRX	OMIM:120970
HP:0000575	Scotoma	84277	DNAJC30	ORPHA:104
HP:0000575	Scotoma	84277	DNAJC30	OMIM:619382
HP:0000575	Scotoma	4535	MT-ND1	ORPHA:104
HP:0000575	Scotoma	4536	MT-ND2	ORPHA:104
HP:0000575	Scotoma	4538	MT-ND4	ORPHA:104
HP:0000575	Scotoma	4720	NDUFS2	ORPHA:104
HP:0000575	Scotoma	4512	MT-CO1	ORPHA:104
HP:0000575	Scotoma	4514	MT-CO3	ORPHA:104
HP:0000575	Scotoma	4519	MT-CYB	ORPHA:104
HP:0000575	Scotoma	4508	MT-ATP6	ORPHA:104
HP:0000575	Scotoma	4540	MT-ND5	ORPHA:104
HP:0000575	Scotoma	4541	MT-ND6	ORPHA:104
HP:0000575	Scotoma	4539	MT-ND4L	ORPHA:104
HP:0000575	Scotoma	1678	TIMM8A	ORPHA:52368
HP:0000575	Scotoma	256471	MFSD8	OMIM:616170
HP:0000575	Scotoma	6017	RLBP1	ORPHA:52427
HP:0000575	Scotoma	6017	RLBP1	ORPHA:85128
HP:0000575	Scotoma	6010	RHO	ORPHA:52427
HP:0000575	Scotoma	5959	RDH5	ORPHA:52427
HP:0000575	Scotoma	50939	IMPG2	OMIM:616152
HP:0000575	Scotoma	2232	FDXR	ORPHA:543470
HP:0000575	Scotoma	9445	ITM2B	OMIM:616079
HP:0000575	Scotoma	755	CFAP410	OMIM:617547
HP:0000575	Scotoma	84816	RTN4IP1	OMIM:616732
HP:0000575	Scotoma	2202	EFEMP1	ORPHA:98977
HP:0000575	Scotoma	1545	CYP1B1	ORPHA:98977
HP:0000575	Scotoma	4653	MYOC	ORPHA:98977
HP:0000575	Scotoma	9927	MFN2	OMIM:601152
HP:0000575	Scotoma	6102	RP2	OMIM:312600
HP:0000575	Scotoma	3075	CFH	ORPHA:75376
HP:0000575	Scotoma	3426	CFI	ORPHA:75376
HP:0000575	Scotoma	80201	HKDC1	OMIM:619614
HP:0000575	Scotoma	50	ACO2	OMIM:616289
HP:0000575	Scotoma	51095	TRNT1	OMIM:616959
HP:0000575	Scotoma	28982	FLVCR1	OMIM:609033
HP:0000575	Scotoma	22901	ARSG	OMIM:618144
HP:0000575	Scotoma	3105	HLA-A	ORPHA:179
HP:0000576	Centrocecal scotoma	4976	OPA1	OMIM:125250
HP:0000576	Centrocecal scotoma	4976	OPA1	OMIM:165500
HP:0000576	Centrocecal scotoma	4514	MT-CO3	OMIM:535000
HP:0000576	Centrocecal scotoma	4514	MT-CO3	ORPHA:104
HP:0000576	Centrocecal scotoma	4519	MT-CYB	OMIM:535000
HP:0000576	Centrocecal scotoma	4519	MT-CYB	ORPHA:104
HP:0000576	Centrocecal scotoma	4541	MT-ND6	OMIM:535000
HP:0000576	Centrocecal scotoma	4541	MT-ND6	ORPHA:104
HP:0000576	Centrocecal scotoma	4540	MT-ND5	OMIM:535000
HP:0000576	Centrocecal scotoma	4540	MT-ND5	ORPHA:104
HP:0000576	Centrocecal scotoma	4508	MT-ATP6	OMIM:535000
HP:0000576	Centrocecal scotoma	4508	MT-ATP6	ORPHA:104
HP:0000576	Centrocecal scotoma	4539	MT-ND4L	OMIM:535000
HP:0000576	Centrocecal scotoma	4539	MT-ND4L	ORPHA:104
HP:0000576	Centrocecal scotoma	4535	MT-ND1	OMIM:535000
HP:0000576	Centrocecal scotoma	4535	MT-ND1	ORPHA:104
HP:0000576	Centrocecal scotoma	4536	MT-ND2	OMIM:535000
HP:0000576	Centrocecal scotoma	4536	MT-ND2	ORPHA:104
HP:0000576	Centrocecal scotoma	4538	MT-ND4	OMIM:535000
HP:0000576	Centrocecal scotoma	4538	MT-ND4	ORPHA:104
HP:0000576	Centrocecal scotoma	84277	DNAJC30	ORPHA:104
HP:0000576	Centrocecal scotoma	4720	NDUFS2	ORPHA:104
HP:0000576	Centrocecal scotoma	4512	MT-CO1	ORPHA:104
HP:0000579	Nasolacrimal duct obstruction	23483	TGDS	OMIM:616145
HP:0000579	Nasolacrimal duct obstruction	55651	NHP2	OMIM:224230
HP:0000579	Nasolacrimal duct obstruction	55505	NOP10	OMIM:224230
HP:0000579	Nasolacrimal duct obstruction	1387	CREBBP	OMIM:180849
HP:0000579	Nasolacrimal duct obstruction	1387	CREBBP	ORPHA:353277
HP:0000579	Nasolacrimal duct obstruction	2033	EP300	OMIM:180849
HP:0000579	Nasolacrimal duct obstruction	2033	EP300	ORPHA:353284
HP:0000579	Nasolacrimal duct obstruction	57479	PRR12	OMIM:619539
HP:0000579	Nasolacrimal duct obstruction	2263	FGFR2	OMIM:149730
HP:0000579	Nasolacrimal duct obstruction	158326	FREM1	ORPHA:2717
HP:0000579	Nasolacrimal duct obstruction	158326	FREM1	OMIM:248450
HP:0000579	Nasolacrimal duct obstruction	3166	HMX1	OMIM:612109
HP:0000579	Nasolacrimal duct obstruction	79650	USB1	OMIM:604173
HP:0000579	Nasolacrimal duct obstruction	7020	TFAP2A	OMIM:113620
HP:0000579	Nasolacrimal duct obstruction	7020	TFAP2A	ORPHA:1297
HP:0000579	Nasolacrimal duct obstruction	55553	SOX6	OMIM:618971
HP:0000579	Nasolacrimal duct obstruction	6872	TAF1	OMIM:300966
HP:0000579	Nasolacrimal duct obstruction	1954	MEGF8	OMIM:614976
HP:0000579	Nasolacrimal duct obstruction	8626	TP63	ORPHA:978
HP:0000579	Nasolacrimal duct obstruction	8626	TP63	OMIM:103285
HP:0000579	Nasolacrimal duct obstruction	9126	SMC3	OMIM:610759
HP:0000579	Nasolacrimal duct obstruction	9968	MED12	OMIM:301068
HP:0000579	Nasolacrimal duct obstruction	7528	YY1	ORPHA:506358
HP:0000579	Nasolacrimal duct obstruction	9791	PTDSS1	OMIM:151050
HP:0000579	Nasolacrimal duct obstruction	2138	EYA1	OMIM:113650
HP:0000579	Nasolacrimal duct obstruction	6495	SIX1	OMIM:113650
HP:0000579	Nasolacrimal duct obstruction	6495	SIX1	OMIM:608389
HP:0000579	Nasolacrimal duct obstruction	5075	PAX1	OMIM:615560
HP:0000579	Nasolacrimal duct obstruction	6949	TCOF1	OMIM:154500
HP:0000579	Nasolacrimal duct obstruction	7994	KAT6A	OMIM:616268
HP:0000579	Nasolacrimal duct obstruction	7994	KAT6A	ORPHA:457193
HP:0000579	Nasolacrimal duct obstruction	200424	TET3	OMIM:618798
HP:0000579	Nasolacrimal duct obstruction	5500	PPP1CB	OMIM:617506
HP:0000579	Nasolacrimal duct obstruction	200734	SPRED2	OMIM:619745
HP:0000579	Nasolacrimal duct obstruction	90417	KNSTRN	OMIM:613328
HP:0000579	Nasolacrimal duct obstruction	90417	KNSTRN	ORPHA:221139
HP:0000579	Nasolacrimal duct obstruction	5293	PIK3CD	OMIM:613328
HP:0000579	Nasolacrimal duct obstruction	5293	PIK3CD	ORPHA:221139
HP:0000579	Nasolacrimal duct obstruction	977	CD151	OMIM:609057
HP:0000579	Nasolacrimal duct obstruction	3321	IGSF3	OMIM:149700
HP:0000579	Nasolacrimal duct obstruction	23137	SMC5	OMIM:620185
HP:0010791	Hyperplasia of the Leydig cells	2778	GNAS	ORPHA:562
HP:0010791	Hyperplasia of the Leydig cells	2488	FSHB	ORPHA:52901
HP:0010794	Impaired visuospatial constructive cognition	4854	NOTCH3	ORPHA:136
HP:0010794	Impaired visuospatial constructive cognition	3064	HTT	ORPHA:399
HP:0010794	Impaired visuospatial constructive cognition	6515	SLC2A3	ORPHA:399
HP:0010794	Impaired visuospatial constructive cognition	4558	MT-TF	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4572	MT-TQ	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4512	MT-CO1	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4513	MT-CO2	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4514	MT-CO3	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4578	MT-TW	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4540	MT-ND5	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4541	MT-ND6	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4535	MT-ND1	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4538	MT-ND4	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4567	MT-TL1	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4574	MT-TS1	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4575	MT-TS2	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	4564	MT-TH	ORPHA:550
HP:0010794	Impaired visuospatial constructive cognition	6513	SLC2A1	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	2562	GABRB3	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	2554	GABRA1	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	8912	CACNA1H	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	8629	JRK	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	2566	GABRG2	ORPHA:64280
HP:0010794	Impaired visuospatial constructive cognition	4763	NF1	ORPHA:363700
HP:0010794	Impaired visuospatial constructive cognition	5718	PSMD12	ORPHA:529962
HP:0010794	Impaired visuospatial constructive cognition	2186	BPTF	ORPHA:529962
HP:0010794	Impaired visuospatial constructive cognition	10585	POMT1	ORPHA:86812
HP:0010794	Impaired visuospatial constructive cognition	23203	PMPCA	ORPHA:1170
HP:0010794	Impaired visuospatial constructive cognition	215	ABCD1	ORPHA:139396
HP:0010794	Impaired visuospatial constructive cognition	5575	PRKAR1B	ORPHA:412066
HP:0010794	Impaired visuospatial constructive cognition	4137	MAPT	ORPHA:240085
HP:0010794	Impaired visuospatial constructive cognition	55157	DARS2	ORPHA:137898
HP:0010794	Impaired visuospatial constructive cognition	3748	KCNC3	ORPHA:98768
HP:0010794	Impaired visuospatial constructive cognition	51085	MLXIPL	OMIM:194050
HP:0010794	Impaired visuospatial constructive cognition	2006	ELN	OMIM:194050
HP:0010795	Cerebellar glioma	4763	NF1	ORPHA:97685
HP:0010796	Brainstem glioma	4763	NF1	ORPHA:97685
HP:0010797	Hemangioblastoma	7428	VHL	ORPHA:892
HP:0010797	Hemangioblastoma	7428	VHL	OMIM:193300
HP:0010797	Hemangioblastoma	595	CCND1	ORPHA:892
HP:0010797	Hemangioblastoma	595	CCND1	OMIM:193300
HP:0010797	Hemangioblastoma	1743	DLST	ORPHA:29072
HP:0010797	Hemangioblastoma	4191	MDH2	ORPHA:29072
HP:0010797	Hemangioblastoma	5979	RET	ORPHA:29072
HP:0010797	Hemangioblastoma	6389	SDHA	ORPHA:29072
HP:0010797	Hemangioblastoma	23095	KIF1B	ORPHA:29072
HP:0010797	Hemangioblastoma	2271	FH	ORPHA:29072
HP:0010797	Hemangioblastoma	8402	SLC25A11	ORPHA:29072
HP:0010797	Hemangioblastoma	54949	SDHAF2	ORPHA:29072
HP:0010797	Hemangioblastoma	55654	TMEM127	ORPHA:29072
HP:0010797	Hemangioblastoma	4763	NF1	ORPHA:29072
HP:0010797	Hemangioblastoma	6391	SDHC	ORPHA:29072
HP:0010797	Hemangioblastoma	6392	SDHD	ORPHA:29072
HP:0010797	Hemangioblastoma	6390	SDHB	ORPHA:29072
HP:0010797	Hemangioblastoma	4149	MAX	ORPHA:29072
HP:0010797	Hemangioblastoma	5728	PTEN	ORPHA:79076
HP:0010797	Hemangioblastoma	657	BMPR1A	ORPHA:79076
HP:0010799	Pinealoma	5925	RB1	OMIM:180200
HP:0010790	Hyoplasia of the Leydig cells	7840	ALMS1	ORPHA:64
HP:0007738	Uncontrolled eye movements	55624	POMGNT1	OMIM:253280
HP:0007738	Uncontrolled eye movements	6513	SLC2A1	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2562	GABRB3	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2554	GABRA1	ORPHA:64280
HP:0007738	Uncontrolled eye movements	8912	CACNA1H	ORPHA:64280
HP:0007738	Uncontrolled eye movements	8629	JRK	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2566	GABRG2	ORPHA:64280
HP:0007738	Uncontrolled eye movements	135	ADORA2A	ORPHA:363549
HP:0007740	Long eyelashes in irregular rows	3339	HSPG2	OMIM:255800
HP:0007740	Long eyelashes in irregular rows	3339	HSPG2	ORPHA:800
HP:0007740	Long eyelashes in irregular rows	29957	SLC25A24	ORPHA:2963
HP:0000612	Iris coloboma	3476	IGBP1	OMIM:300472
HP:0000612	Iris coloboma	3476	IGBP1	ORPHA:52055
HP:0000612	Iris coloboma	22827	PUF60	ORPHA:508498
HP:0000612	Iris coloboma	1409	CRYAA	OMIM:604219
HP:0000612	Iris coloboma	1409	CRYAA	ORPHA:1377
HP:0000612	Iris coloboma	23394	ADNP	ORPHA:404448
HP:0000612	Iris coloboma	1859	DYRK1A	ORPHA:268261
HP:0000612	Iris coloboma	406987	MIR204	OMIM:616722
HP:0000612	Iris coloboma	3265	HRAS	ORPHA:2612
HP:0000612	Iris coloboma	3845	KRAS	ORPHA:2612
HP:0000612	Iris coloboma	3845	KRAS	ORPHA:2396
HP:0000612	Iris coloboma	4893	NRAS	ORPHA:2612
HP:0000612	Iris coloboma	2260	FGFR1	OMIM:147950
HP:0000612	Iris coloboma	2260	FGFR1	ORPHA:280200
HP:0000612	Iris coloboma	2260	FGFR1	ORPHA:2396
HP:0000612	Iris coloboma	4919	ROR1	OMIM:617654
HP:0000612	Iris coloboma	145173	B3GLCT	ORPHA:709
HP:0000612	Iris coloboma	145173	B3GLCT	OMIM:261540
HP:0000612	Iris coloboma	57167	SALL4	OMIM:607323
HP:0000612	Iris coloboma	57167	SALL4	ORPHA:959
HP:0000612	Iris coloboma	57167	SALL4	ORPHA:233
HP:0000612	Iris coloboma	7473	WNT3	ORPHA:3301
HP:0000612	Iris coloboma	340419	RSPO2	ORPHA:3301
HP:0000612	Iris coloboma	9839	ZEB2	OMIM:235730
HP:0000612	Iris coloboma	9839	ZEB2	ORPHA:261552
HP:0000612	Iris coloboma	9839	ZEB2	ORPHA:261537
HP:0000612	Iris coloboma	23126	POGZ	ORPHA:468678
HP:0000612	Iris coloboma	23126	POGZ	OMIM:616364
HP:0000612	Iris coloboma	2316	FLNA	OMIM:300244
HP:0000612	Iris coloboma	2316	FLNA	ORPHA:88630
HP:0000612	Iris coloboma	116931	MED12L	OMIM:618872
HP:0000612	Iris coloboma	26610	ELP4	OMIM:617141
HP:0000612	Iris coloboma	64412	GZF1	OMIM:617662
HP:0000612	Iris coloboma	23322	RPGRIP1L	ORPHA:220497
HP:0000612	Iris coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000612	Iris coloboma	4867	NPHP1	ORPHA:220497
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:220497
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:2318
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:475
HP:0000612	Iris coloboma	54806	AHI1	ORPHA:220493
HP:0000612	Iris coloboma	54806	AHI1	ORPHA:475
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:220493
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:1454
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:475
HP:0000612	Iris coloboma	153241	CEP120	ORPHA:220493
HP:0000612	Iris coloboma	153241	CEP120	ORPHA:475
HP:0000612	Iris coloboma	54903	MKS1	ORPHA:220493
HP:0000612	Iris coloboma	54903	MKS1	ORPHA:475
HP:0000612	Iris coloboma	54903	MKS1	OMIM:249000
HP:0000612	Iris coloboma	95681	CEP41	ORPHA:220493
HP:0000612	Iris coloboma	95681	CEP41	ORPHA:475
HP:0000612	Iris coloboma	10413	YAP1	ORPHA:1473
HP:0000612	Iris coloboma	10413	YAP1	OMIM:120433
HP:0000612	Iris coloboma	3149	HMGB3	OMIM:300915
HP:0000612	Iris coloboma	1717	DHCR7	ORPHA:818
HP:0000612	Iris coloboma	26128	KIFBP	ORPHA:66629
HP:0000612	Iris coloboma	55636	CHD7	ORPHA:138
HP:0000612	Iris coloboma	55636	CHD7	OMIM:214800
HP:0000612	Iris coloboma	9723	SEMA3E	ORPHA:138
HP:0000612	Iris coloboma	84892	POMGNT2	ORPHA:899
HP:0000612	Iris coloboma	148789	B3GALNT2	ORPHA:899
HP:0000612	Iris coloboma	79147	FKRP	ORPHA:899
HP:0000612	Iris coloboma	29954	POMT2	ORPHA:899
HP:0000612	Iris coloboma	9215	LARGE1	ORPHA:899
HP:0000612	Iris coloboma	1282	COL4A1	ORPHA:899
HP:0000612	Iris coloboma	729920	CRPPA	ORPHA:899
HP:0000612	Iris coloboma	10329	RXYLT1	ORPHA:899
HP:0000612	Iris coloboma	1605	DAG1	ORPHA:899
HP:0000612	Iris coloboma	11041	B4GAT1	ORPHA:899
HP:0000612	Iris coloboma	10585	POMT1	ORPHA:899
HP:0000612	Iris coloboma	84197	POMK	ORPHA:899
HP:0000612	Iris coloboma	2218	FKTN	ORPHA:899
HP:0000612	Iris coloboma	55624	POMGNT1	ORPHA:899
HP:0000612	Iris coloboma	28514	DLL1	ORPHA:280200
HP:0000612	Iris coloboma	2253	FGF8	ORPHA:280200
HP:0000612	Iris coloboma	6496	SIX3	ORPHA:280200
HP:0000612	Iris coloboma	6496	SIX3	OMIM:157170
HP:0000612	Iris coloboma	7050	TGIF1	ORPHA:280200
HP:0000612	Iris coloboma	4838	NODAL	ORPHA:280200
HP:0000612	Iris coloboma	6469	SHH	ORPHA:280200
HP:0000612	Iris coloboma	6469	SHH	OMIM:611638
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:280200
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:475
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:377
HP:0000612	Iris coloboma	7546	ZIC2	ORPHA:280200
HP:0000612	Iris coloboma	2619	GAS1	ORPHA:280200
HP:0000612	Iris coloboma	84976	DISP1	ORPHA:280200
HP:0000612	Iris coloboma	2736	GLI2	ORPHA:280200
HP:0000612	Iris coloboma	8928	FOXH1	ORPHA:280200
HP:0000612	Iris coloboma	5727	PTCH1	ORPHA:280200
HP:0000612	Iris coloboma	5727	PTCH1	OMIM:109400
HP:0000612	Iris coloboma	5727	PTCH1	OMIM:610828
HP:0000612	Iris coloboma	5727	PTCH1	ORPHA:377
HP:0000612	Iris coloboma	50937	CDON	ORPHA:280200
HP:0000612	Iris coloboma	6657	SOX2	ORPHA:77298
HP:0000612	Iris coloboma	473	RERE	ORPHA:494344
HP:0000612	Iris coloboma	220202	ATOH7	OMIM:221900
HP:0000612	Iris coloboma	54880	BCOR	ORPHA:2712
HP:0000612	Iris coloboma	54880	BCOR	ORPHA:568
HP:0000612	Iris coloboma	54880	BCOR	OMIM:309800
HP:0000612	Iris coloboma	54880	BCOR	OMIM:300166
HP:0000612	Iris coloboma	5925	RB1	ORPHA:1587
HP:0000612	Iris coloboma	4853	NOTCH2	OMIM:102500
HP:0000612	Iris coloboma	4853	NOTCH2	ORPHA:955
HP:0000612	Iris coloboma	2248	FGF3	ORPHA:2791
HP:0000612	Iris coloboma	1063	CENPF	OMIM:243605
HP:0000612	Iris coloboma	2263	FGFR2	ORPHA:207
HP:0000612	Iris coloboma	2077	ERF	ORPHA:207
HP:0000612	Iris coloboma	79583	TMEM231	ORPHA:2318
HP:0000612	Iris coloboma	51524	TMEM138	ORPHA:2318
HP:0000612	Iris coloboma	23090	ZNF423	ORPHA:2318
HP:0000612	Iris coloboma	80184	CEP290	ORPHA:2318
HP:0000612	Iris coloboma	51259	TMEM216	ORPHA:2318
HP:0000612	Iris coloboma	57545	CC2D2A	ORPHA:2318
HP:0000612	Iris coloboma	57545	CC2D2A	ORPHA:1454
HP:0000612	Iris coloboma	8260	NAA10	ORPHA:568
HP:0000612	Iris coloboma	8260	NAA10	OMIM:309800
HP:0000612	Iris coloboma	4313	MMP2	ORPHA:371428
HP:0000612	Iris coloboma	4323	MMP14	ORPHA:371428
HP:0000612	Iris coloboma	7020	TFAP2A	OMIM:113620
HP:0000612	Iris coloboma	7020	TFAP2A	ORPHA:1297
HP:0000612	Iris coloboma	10815	CPLX1	ORPHA:280
HP:0000612	Iris coloboma	10815	CPLX1	OMIM:194190
HP:0000612	Iris coloboma	54872	PIGG	ORPHA:280
HP:0000612	Iris coloboma	7469	NELFA	ORPHA:280
HP:0000612	Iris coloboma	1487	CTBP1	ORPHA:280
HP:0000612	Iris coloboma	1487	CTBP1	OMIM:194190
HP:0000612	Iris coloboma	3954	LETM1	ORPHA:280
HP:0000612	Iris coloboma	3954	LETM1	OMIM:194190
HP:0000612	Iris coloboma	7468	NSD2	ORPHA:280
HP:0000612	Iris coloboma	7468	NSD2	OMIM:194190
HP:0000612	Iris coloboma	338917	VSX2	OMIM:610092
HP:0000612	Iris coloboma	55714	TENM3	OMIM:615145
HP:0000612	Iris coloboma	523	ATP6V1A	OMIM:618012
HP:0000612	Iris coloboma	4854	NOTCH3	ORPHA:2789
HP:0000612	Iris coloboma	91147	TMEM67	ORPHA:1454
HP:0000612	Iris coloboma	91147	TMEM67	ORPHA:475
HP:0000612	Iris coloboma	4591	TRIM37	OMIM:253250
HP:0000612	Iris coloboma	5950	RBP4	OMIM:615147
HP:0000612	Iris coloboma	5950	RBP4	OMIM:616428
HP:0000612	Iris coloboma	4036	LRP2	ORPHA:2143
HP:0000612	Iris coloboma	4036	LRP2	OMIM:222448
HP:0000612	Iris coloboma	25942	SIN3A	OMIM:613406
HP:0000612	Iris coloboma	79644	SRD5A3	OMIM:612713
HP:0000612	Iris coloboma	53834	FGFRL1	OMIM:194190
HP:0000612	Iris coloboma	6297	SALL2	OMIM:216820
HP:0000612	Iris coloboma	2313	FLI1	ORPHA:2308
HP:0000612	Iris coloboma	60	ACTB	OMIM:243310
HP:0000612	Iris coloboma	60	ACTB	ORPHA:2995
HP:0000612	Iris coloboma	9935	MAFB	ORPHA:233
HP:0000612	Iris coloboma	1123	CHN1	ORPHA:233
HP:0000612	Iris coloboma	79600	TCTN1	ORPHA:475
HP:0000612	Iris coloboma	79848	CSPP1	ORPHA:475
HP:0000612	Iris coloboma	65250	CPLANE1	ORPHA:475
HP:0000612	Iris coloboma	200894	ARL13B	ORPHA:475
HP:0000612	Iris coloboma	9731	CEP104	ORPHA:475
HP:0000612	Iris coloboma	219844	HYLS1	ORPHA:475
HP:0000612	Iris coloboma	23247	KATNIP	ORPHA:475
HP:0000612	Iris coloboma	219854	TMEM218	ORPHA:475
HP:0000612	Iris coloboma	9786	KIAA0586	ORPHA:475
HP:0000612	Iris coloboma	79867	TCTN2	ORPHA:475
HP:0000612	Iris coloboma	80776	B9D2	ORPHA:475
HP:0000612	Iris coloboma	10464	PIBF1	ORPHA:475
HP:0000612	Iris coloboma	80210	ARMC9	ORPHA:475
HP:0000612	Iris coloboma	23116	TOGARAM1	ORPHA:475
HP:0000612	Iris coloboma	25776	CBY1	ORPHA:475
HP:0000612	Iris coloboma	27077	B9D1	ORPHA:475
HP:0000612	Iris coloboma	403	ARL3	ORPHA:475
HP:0000612	Iris coloboma	64840	PORCN	OMIM:305600
HP:0000612	Iris coloboma	64840	PORCN	ORPHA:2092
HP:0000612	Iris coloboma	23347	SMCHD1	ORPHA:2250
HP:0000612	Iris coloboma	157680	VPS13B	ORPHA:193
HP:0000612	Iris coloboma	6608	SMO	OMIM:601707
HP:0000612	Iris coloboma	6608	SMO	ORPHA:1553
HP:0000612	Iris coloboma	1349	COX7B	OMIM:309801
HP:0000612	Iris coloboma	3052	HCCS	OMIM:309801
HP:0000612	Iris coloboma	54539	NDUFB11	OMIM:309801
HP:0000612	Iris coloboma	6711	SPTBN1	OMIM:619475
HP:0000612	Iris coloboma	10908	PNPLA6	ORPHA:2377
HP:0000612	Iris coloboma	286	ANK1	ORPHA:251066
HP:0000612	Iris coloboma	29926	GMPPA	ORPHA:869
HP:0000612	Iris coloboma	60684	TRAPPC11	ORPHA:869
HP:0000612	Iris coloboma	8086	AAAS	ORPHA:869
HP:0000612	Iris coloboma	8085	KMT2D	OMIM:620186
HP:0000612	Iris coloboma	85365	ALG2	ORPHA:79326
HP:0000612	Iris coloboma	85365	ALG2	OMIM:607906
HP:0000612	Iris coloboma	284252	KCTD1	OMIM:181270
HP:0000612	Iris coloboma	84172	POLR1B	ORPHA:861
HP:0000612	Iris coloboma	9533	POLR1C	ORPHA:861
HP:0000612	Iris coloboma	51082	POLR1D	ORPHA:861
HP:0000612	Iris coloboma	6949	TCOF1	ORPHA:861
HP:0000612	Iris coloboma	6299	SALL1	ORPHA:857
HP:0000612	Iris coloboma	51339	DACT1	ORPHA:857
HP:0000612	Iris coloboma	9573	GDF3	OMIM:613702
HP:0000612	Iris coloboma	9338	TCEAL1	OMIM:301094
HP:0000612	Iris coloboma	113246	C12orf57	OMIM:218340
HP:0000612	Iris coloboma	7837	PXDN	OMIM:269400
HP:0000612	Iris coloboma	8643	PTCH2	ORPHA:377
HP:0000612	Iris coloboma	652	BMP4	ORPHA:139471
HP:0000612	Iris coloboma	51360	MBTPS2	ORPHA:85284
HP:0000612	Iris coloboma	57479	PRR12	OMIM:619539
HP:0000612	Iris coloboma	8777	MPDZ	OMIM:615219
HP:0000612	Iris coloboma	4094	MAF	OMIM:610202
HP:0000612	Iris coloboma	4094	MAF	ORPHA:1377
HP:0000612	Iris coloboma	4990	SIX6	OMIM:212550
HP:0000612	Iris coloboma	3166	HMX1	OMIM:612109
HP:0000612	Iris coloboma	71	ACTG1	ORPHA:2995
HP:0000612	Iris coloboma	50945	TBX22	ORPHA:921
HP:0000612	Iris coloboma	2776	GNAQ	ORPHA:3205
HP:0000612	Iris coloboma	9897	WASHC5	ORPHA:7
HP:0000612	Iris coloboma	28952	CCDC22	ORPHA:7
HP:0000612	Iris coloboma	10195	ALG3	OMIM:601110
HP:0000612	Iris coloboma	257	ALX3	ORPHA:391474
HP:0000612	Iris coloboma	2703	GJA8	ORPHA:1377
HP:0000612	Iris coloboma	1413	CRYBA4	ORPHA:1377
HP:0000612	Iris coloboma	1415	CRYBB2	ORPHA:1377
HP:0000612	Iris coloboma	1414	CRYBB1	ORPHA:1377
HP:0000612	Iris coloboma	1420	CRYGC	ORPHA:1377
HP:0000612	Iris coloboma	1421	CRYGD	ORPHA:1377
HP:0000612	Iris coloboma	10058	ABCB6	OMIM:614497
HP:0000582	Upslanted palpebral fissure	10682	EBP	ORPHA:401973
HP:0000582	Upslanted palpebral fissure	10682	EBP	OMIM:300960
HP:0000582	Upslanted palpebral fissure	8367	H4C5	OMIM:619950
HP:0000582	Upslanted palpebral fissure	104	ADARB1	OMIM:618862
HP:0000582	Upslanted palpebral fissure	5885	RAD21	OMIM:614701
HP:0000582	Upslanted palpebral fissure	57539	WDR35	OMIM:613610
HP:0000582	Upslanted palpebral fissure	4897	NRCAM	OMIM:619833
HP:0000582	Upslanted palpebral fissure	145173	B3GLCT	ORPHA:709
HP:0000582	Upslanted palpebral fissure	145173	B3GLCT	OMIM:261540
HP:0000582	Upslanted palpebral fissure	7109	TRAPPC10	OMIM:620027
HP:0000582	Upslanted palpebral fissure	7109	TRAPPC10	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	55733	HHAT	OMIM:600092
HP:0000582	Upslanted palpebral fissure	7518	XRCC4	ORPHA:99812
HP:0000582	Upslanted palpebral fissure	3981	LIG4	ORPHA:99812
HP:0000582	Upslanted palpebral fissure	3981	LIG4	OMIM:606593
HP:0000582	Upslanted palpebral fissure	4774	NFIA	OMIM:613735
HP:0000582	Upslanted palpebral fissure	5830	PEX5	OMIM:214110
HP:0000582	Upslanted palpebral fissure	5830	PEX5	ORPHA:912
HP:0000582	Upslanted palpebral fissure	10084	PQBP1	ORPHA:93950
HP:0000582	Upslanted palpebral fissure	10084	PQBP1	ORPHA:93947
HP:0000582	Upslanted palpebral fissure	10084	PQBP1	OMIM:309500
HP:0000582	Upslanted palpebral fissure	55209	SETD5	ORPHA:404440
HP:0000582	Upslanted palpebral fissure	55209	SETD5	OMIM:615761
HP:0000582	Upslanted palpebral fissure	4784	NFIX	ORPHA:447980
HP:0000582	Upslanted palpebral fissure	2316	FLNA	OMIM:300244
HP:0000582	Upslanted palpebral fissure	197131	UBR1	OMIM:243800
HP:0000582	Upslanted palpebral fissure	9578	CDC42BPB	OMIM:619841
HP:0000582	Upslanted palpebral fissure	3020	H3-3A	OMIM:619720
HP:0000582	Upslanted palpebral fissure	80816	ASXL3	OMIM:615485
HP:0000582	Upslanted palpebral fissure	80816	ASXL3	ORPHA:352577
HP:0000582	Upslanted palpebral fissure	89910	UBE3B	OMIM:244450
HP:0000582	Upslanted palpebral fissure	89910	UBE3B	ORPHA:2707
HP:0000582	Upslanted palpebral fissure	1855	DVL1	OMIM:616331
HP:0000582	Upslanted palpebral fissure	1855	DVL1	ORPHA:3107
HP:0000582	Upslanted palpebral fissure	1855	DVL1	OMIM:180700
HP:0000582	Upslanted palpebral fissure	283489	CHAMP1	OMIM:616579
HP:0000582	Upslanted palpebral fissure	27245	AHDC1	ORPHA:412069
HP:0000582	Upslanted palpebral fissure	27245	AHDC1	OMIM:615829
HP:0000582	Upslanted palpebral fissure	80055	PGAP1	OMIM:615802
HP:0000582	Upslanted palpebral fissure	2314	FLII	ORPHA:819
HP:0000582	Upslanted palpebral fissure	23096	IQSEC2	ORPHA:819
HP:0000582	Upslanted palpebral fissure	10743	RAI1	ORPHA:819
HP:0000582	Upslanted palpebral fissure	10522	DEAF1	ORPHA:819
HP:0000582	Upslanted palpebral fissure	10522	DEAF1	OMIM:615828
HP:0000582	Upslanted palpebral fissure	1717	DHCR7	ORPHA:818
HP:0000582	Upslanted palpebral fissure	29072	SETD2	OMIM:620157
HP:0000582	Upslanted palpebral fissure	29072	SETD2	OMIM:620155
HP:0000582	Upslanted palpebral fissure	10225	CD96	OMIM:211750
HP:0000582	Upslanted palpebral fissure	10225	CD96	ORPHA:1308
HP:0000582	Upslanted palpebral fissure	9382	COG1	OMIM:611209
HP:0000582	Upslanted palpebral fissure	5189	PEX1	OMIM:214100
HP:0000582	Upslanted palpebral fissure	5189	PEX1	ORPHA:912
HP:0000582	Upslanted palpebral fissure	55650	PIGV	OMIM:239300
HP:0000582	Upslanted palpebral fissure	55650	PIGV	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	84992	PIGY	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	84720	PIGO	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	84720	PIGO	OMIM:614749
HP:0000582	Upslanted palpebral fissure	93210	PGAP3	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	93210	PGAP3	OMIM:615716
HP:0000582	Upslanted palpebral fissure	284098	PIGW	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	27315	PGAP2	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	9487	PIGL	ORPHA:247262
HP:0000582	Upslanted palpebral fissure	9487	PIGL	ORPHA:3474
HP:0000582	Upslanted palpebral fissure	4001	LMNB1	OMIM:619179
HP:0000582	Upslanted palpebral fissure	284058	KANSL1	ORPHA:363958
HP:0000582	Upslanted palpebral fissure	284058	KANSL1	ORPHA:363965
HP:0000582	Upslanted palpebral fissure	284058	KANSL1	OMIM:610443
HP:0000582	Upslanted palpebral fissure	8913	CACNA1G	OMIM:618087
HP:0000582	Upslanted palpebral fissure	51109	RDH11	OMIM:616108
HP:0000582	Upslanted palpebral fissure	51109	RDH11	ORPHA:436245
HP:0000582	Upslanted palpebral fissure	64359	NXN	ORPHA:1507
HP:0000582	Upslanted palpebral fissure	4920	ROR2	ORPHA:1507
HP:0000582	Upslanted palpebral fissure	672	BRCA1	ORPHA:84
HP:0000582	Upslanted palpebral fissure	672	BRCA1	OMIM:617883
HP:0000582	Upslanted palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0000582	Upslanted palpebral fissure	7516	XRCC2	ORPHA:84
HP:0000582	Upslanted palpebral fissure	29089	UBE2T	ORPHA:84
HP:0000582	Upslanted palpebral fissure	675	BRCA2	ORPHA:84
HP:0000582	Upslanted palpebral fissure	55120	FANCL	ORPHA:84
HP:0000582	Upslanted palpebral fissure	55120	FANCL	OMIM:614083
HP:0000582	Upslanted palpebral fissure	2177	FANCD2	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2175	FANCA	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2187	FANCB	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2176	FANCC	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2178	FANCE	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2188	FANCF	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2189	FANCG	ORPHA:84
HP:0000582	Upslanted palpebral fissure	5888	RAD51	ORPHA:84
HP:0000582	Upslanted palpebral fissure	5889	RAD51C	ORPHA:84
HP:0000582	Upslanted palpebral fissure	55159	RFWD3	ORPHA:84
HP:0000582	Upslanted palpebral fissure	83990	BRIP1	ORPHA:84
HP:0000582	Upslanted palpebral fissure	57697	FANCM	ORPHA:84
HP:0000582	Upslanted palpebral fissure	79728	PALB2	ORPHA:84
HP:0000582	Upslanted palpebral fissure	84464	SLX4	ORPHA:84
HP:0000582	Upslanted palpebral fissure	2072	ERCC4	ORPHA:84
HP:0000582	Upslanted palpebral fissure	55215	FANCI	ORPHA:84
HP:0000582	Upslanted palpebral fissure	5191	PEX7	OMIM:215100
HP:0000582	Upslanted palpebral fissure	8546	AP3B1	OMIM:608233
HP:0000582	Upslanted palpebral fissure	2697	GJA1	ORPHA:2710
HP:0000582	Upslanted palpebral fissure	2626	GATA4	ORPHA:251071
HP:0000582	Upslanted palpebral fissure	7020	TFAP2A	OMIM:113620
HP:0000582	Upslanted palpebral fissure	7020	TFAP2A	ORPHA:1297
HP:0000582	Upslanted palpebral fissure	9896	FIG4	ORPHA:3472
HP:0000582	Upslanted palpebral fissure	9896	FIG4	OMIM:216340
HP:0000582	Upslanted palpebral fissure	55697	VAC14	ORPHA:3472
HP:0000582	Upslanted palpebral fissure	10087	CERT1	OMIM:616351
HP:0000582	Upslanted palpebral fissure	4212	MEIS2	OMIM:600987
HP:0000582	Upslanted palpebral fissure	26053	AUTS2	ORPHA:352490
HP:0000582	Upslanted palpebral fissure	26053	AUTS2	OMIM:615834
HP:0000582	Upslanted palpebral fissure	23036	ZNF292	OMIM:619188
HP:0000582	Upslanted palpebral fissure	6885	MAP3K7	OMIM:157800
HP:0000582	Upslanted palpebral fissure	57178	ZMIZ1	OMIM:618659
HP:0000582	Upslanted palpebral fissure	5813	PURA	ORPHA:438216
HP:0000582	Upslanted palpebral fissure	79813	EHMT1	OMIM:610253
HP:0000582	Upslanted palpebral fissure	93627	TBCK	ORPHA:488632
HP:0000582	Upslanted palpebral fissure	1954	MEGF8	OMIM:614976
HP:0000582	Upslanted palpebral fissure	84300	UQCC2	OMIM:615824
HP:0000582	Upslanted palpebral fissure	2783	GNB2	OMIM:619503
HP:0000582	Upslanted palpebral fissure	26057	ANKRD17	OMIM:619504
HP:0000582	Upslanted palpebral fissure	26005	C2CD3	OMIM:615948
HP:0000582	Upslanted palpebral fissure	26005	C2CD3	ORPHA:434179
HP:0000582	Upslanted palpebral fissure	1174	AP1S1	OMIM:609313
HP:0000582	Upslanted palpebral fissure	3192	HNRNPU	ORPHA:238769
HP:0000582	Upslanted palpebral fissure	9653	HS2ST1	OMIM:619194
HP:0000582	Upslanted palpebral fissure	10801	SEPTIN9	OMIM:162100
HP:0000582	Upslanted palpebral fissure	7025	NR2F1	ORPHA:401777
HP:0000582	Upslanted palpebral fissure	7025	NR2F1	OMIM:615722
HP:0000582	Upslanted palpebral fissure	253738	EBF3	OMIM:617330
HP:0000582	Upslanted palpebral fissure	26038	CHD5	OMIM:619873
HP:0000582	Upslanted palpebral fissure	3043	HBB	ORPHA:231214
HP:0000582	Upslanted palpebral fissure	3043	HBB	ORPHA:231226
HP:0000582	Upslanted palpebral fissure	84879	MFSD2A	OMIM:616486
HP:0000582	Upslanted palpebral fissure	84879	MFSD2A	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	23126	POGZ	OMIM:616364
HP:0000582	Upslanted palpebral fissure	5063	PAK3	OMIM:300558
HP:0000582	Upslanted palpebral fissure	5190	PEX6	OMIM:614862
HP:0000582	Upslanted palpebral fissure	5190	PEX6	ORPHA:912
HP:0000582	Upslanted palpebral fissure	1857	DVL3	ORPHA:3107
HP:0000582	Upslanted palpebral fissure	1857	DVL3	OMIM:616894
HP:0000582	Upslanted palpebral fissure	7474	WNT5A	ORPHA:3107
HP:0000582	Upslanted palpebral fissure	7474	WNT5A	OMIM:180700
HP:0000582	Upslanted palpebral fissure	2535	FZD2	ORPHA:3107
HP:0000582	Upslanted palpebral fissure	8363	H4C11	OMIM:619759
HP:0000582	Upslanted palpebral fissure	8239	USP9X	ORPHA:480880
HP:0000582	Upslanted palpebral fissure	116115	ZNF526	OMIM:619877
HP:0000582	Upslanted palpebral fissure	8364	H4C3	OMIM:619758
HP:0000582	Upslanted palpebral fissure	286	ANK1	ORPHA:251066
HP:0000582	Upslanted palpebral fissure	54499	TMCO1	OMIM:213980
HP:0000582	Upslanted palpebral fissure	9719	ADAMTSL2	OMIM:231050
HP:0000582	Upslanted palpebral fissure	11128	POLR3A	OMIM:264090
HP:0000582	Upslanted palpebral fissure	11128	POLR3A	ORPHA:3455
HP:0000582	Upslanted palpebral fissure	5727	PTCH1	OMIM:610828
HP:0000582	Upslanted palpebral fissure	10236	HNRNPR	OMIM:620073
HP:0000582	Upslanted palpebral fissure	51611	DPH5	OMIM:620070
HP:0000582	Upslanted palpebral fissure	55210	ATAD3A	ORPHA:496790
HP:0000582	Upslanted palpebral fissure	55210	ATAD3A	OMIM:617183
HP:0000582	Upslanted palpebral fissure	57459	GATAD2B	ORPHA:363686
HP:0000582	Upslanted palpebral fissure	4094	MAF	ORPHA:1272
HP:0000582	Upslanted palpebral fissure	4094	MAF	OMIM:601088
HP:0000582	Upslanted palpebral fissure	56098	PCDHGC4	OMIM:619880
HP:0000582	Upslanted palpebral fissure	113179	ADAT3	OMIM:615286
HP:0000582	Upslanted palpebral fissure	113179	ADAT3	ORPHA:363528
HP:0000582	Upslanted palpebral fissure	4849	CNOT3	OMIM:618672
HP:0000582	Upslanted palpebral fissure	2263	FGFR2	ORPHA:168624
HP:0000582	Upslanted palpebral fissure	182	JAG1	OMIM:118450
HP:0000582	Upslanted palpebral fissure	25973	PARS2	OMIM:618437
HP:0000582	Upslanted palpebral fissure	57492	ARID1B	ORPHA:251056
HP:0000582	Upslanted palpebral fissure	6925	TCF4	OMIM:610954
HP:0000582	Upslanted palpebral fissure	6925	TCF4	ORPHA:2896
HP:0000582	Upslanted palpebral fissure	4208	MEF2C	ORPHA:228384
HP:0000582	Upslanted palpebral fissure	4208	MEF2C	OMIM:613443
HP:0000582	Upslanted palpebral fissure	5373	PMM2	ORPHA:79318
HP:0000582	Upslanted palpebral fissure	4677	NARS1	OMIM:619092
HP:0000582	Upslanted palpebral fissure	8242	KDM5C	OMIM:300534
HP:0000582	Upslanted palpebral fissure	23162	MAPK8IP3	OMIM:618443
HP:0000582	Upslanted palpebral fissure	79989	IFT56	OMIM:619534
HP:0000582	Upslanted palpebral fissure	85365	ALG2	OMIM:607906
HP:0000582	Upslanted palpebral fissure	23483	TGDS	OMIM:616145
HP:0000582	Upslanted palpebral fissure	10463	SLC30A9	OMIM:617595
HP:0000582	Upslanted palpebral fissure	546	ATRX	OMIM:309580
HP:0000582	Upslanted palpebral fissure	64919	BCL11B	OMIM:617237
HP:0000582	Upslanted palpebral fissure	79791	FBXO31	OMIM:615979
HP:0000582	Upslanted palpebral fissure	701	BUB1B	OMIM:257300
HP:0000582	Upslanted palpebral fissure	92154	MTSS2	OMIM:620086
HP:0000582	Upslanted palpebral fissure	7546	ZIC2	OMIM:609637
HP:0000582	Upslanted palpebral fissure	171023	ASXL1	OMIM:605039
HP:0000582	Upslanted palpebral fissure	55023	PHIP	ORPHA:589905
HP:0000582	Upslanted palpebral fissure	55023	PHIP	OMIM:617991
HP:0000582	Upslanted palpebral fissure	1387	CREBBP	OMIM:618332
HP:0000582	Upslanted palpebral fissure	2033	EP300	OMIM:618333
HP:0000582	Upslanted palpebral fissure	8295	TRRAP	OMIM:618454
HP:0000582	Upslanted palpebral fissure	9742	IFT140	OMIM:266920
HP:0000582	Upslanted palpebral fissure	8621	CDK13	OMIM:617360
HP:0000582	Upslanted palpebral fissure	79228	THOC6	OMIM:613680
HP:0000582	Upslanted palpebral fissure	54101	RIPK4	OMIM:263650
HP:0000582	Upslanted palpebral fissure	60529	ALX4	ORPHA:228390
HP:0000582	Upslanted palpebral fissure	60529	ALX4	OMIM:613451
HP:0000582	Upslanted palpebral fissure	2702	GJA5	OMIM:612474
HP:0000582	Upslanted palpebral fissure	2703	GJA8	OMIM:612474
HP:0000582	Upslanted palpebral fissure	1642	DDB1	OMIM:619426
HP:0000582	Upslanted palpebral fissure	7319	UBE2A	ORPHA:163956
HP:0000582	Upslanted palpebral fissure	7319	UBE2A	OMIM:300860
HP:0000582	Upslanted palpebral fissure	55770	EXOC2	OMIM:619306
HP:0000582	Upslanted palpebral fissure	55670	PEX26	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5824	PEX19	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5828	PEX2	ORPHA:912
HP:0000582	Upslanted palpebral fissure	8504	PEX3	ORPHA:912
HP:0000582	Upslanted palpebral fissure	8799	PEX11B	ORPHA:912
HP:0000582	Upslanted palpebral fissure	9409	PEX16	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5193	PEX12	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5194	PEX13	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5195	PEX14	ORPHA:912
HP:0000582	Upslanted palpebral fissure	5192	PEX10	ORPHA:912
HP:0000582	Upslanted palpebral fissure	9230	RAB11B	OMIM:617807
HP:0000582	Upslanted palpebral fissure	55081	IFT57	OMIM:617927
HP:0000582	Upslanted palpebral fissure	3720	JARID2	OMIM:620098
HP:0000582	Upslanted palpebral fissure	10075	HUWE1	OMIM:309590
HP:0000582	Upslanted palpebral fissure	9488	PIGB	OMIM:618580
HP:0000582	Upslanted palpebral fissure	91949	COG7	OMIM:608779
HP:0000582	Upslanted palpebral fissure	8243	SMC1A	OMIM:301044
HP:0000582	Upslanted palpebral fissure	8925	HERC1	OMIM:617011
HP:0000582	Upslanted palpebral fissure	8925	HERC1	ORPHA:457359
HP:0000582	Upslanted palpebral fissure	1281	COL3A1	OMIM:618343
HP:0000582	Upslanted palpebral fissure	23013	SPEN	OMIM:619312
HP:0000582	Upslanted palpebral fissure	1859	DYRK1A	ORPHA:268261
HP:0000582	Upslanted palpebral fissure	4683	NBN	OMIM:251260
HP:0000582	Upslanted palpebral fissure	4683	NBN	ORPHA:647
HP:0000582	Upslanted palpebral fissure	23394	ADNP	OMIM:615873
HP:0000582	Upslanted palpebral fissure	9759	HDAC4	ORPHA:1001
HP:0000582	Upslanted palpebral fissure	9759	HDAC4	OMIM:600430
HP:0000582	Upslanted palpebral fissure	50814	NSDHL	ORPHA:251383
HP:0000582	Upslanted palpebral fissure	50814	NSDHL	OMIM:300831
HP:0000582	Upslanted palpebral fissure	7681	MKRN3	OMIM:176270
HP:0000582	Upslanted palpebral fissure	3653	IPW	OMIM:176270
HP:0000582	Upslanted palpebral fissure	54551	MAGEL2	OMIM:176270
HP:0000582	Upslanted palpebral fissure	791114	PWRN1	OMIM:176270
HP:0000582	Upslanted palpebral fissure	100033413	SNORD116-1	OMIM:176270
HP:0000582	Upslanted palpebral fissure	8924	HERC2	OMIM:176270
HP:0000582	Upslanted palpebral fissure	145624	PWAR1	OMIM:176270
HP:0000582	Upslanted palpebral fissure	23742	NPAP1	OMIM:176270
HP:0000582	Upslanted palpebral fissure	338433	SNORD115-1	OMIM:176270
HP:0000582	Upslanted palpebral fissure	5575	PRKAR1B	OMIM:619680
HP:0000582	Upslanted palpebral fissure	7707	ZNF148	OMIM:617260
HP:0000582	Upslanted palpebral fissure	2623	GATA1	OMIM:190685
HP:0000582	Upslanted palpebral fissure	29998	BICRA	OMIM:619325
HP:0000582	Upslanted palpebral fissure	23030	KDM4B	OMIM:619320
HP:0000582	Upslanted palpebral fissure	6492	SIM1	ORPHA:171829
HP:0000582	Upslanted palpebral fissure	84162	BLTP1	OMIM:617822
HP:0000582	Upslanted palpebral fissure	473	RERE	OMIM:616975
HP:0000582	Upslanted palpebral fissure	55784	MCTP2	ORPHA:1596
HP:0000582	Upslanted palpebral fissure	998	CDC42	OMIM:616737
HP:0000582	Upslanted palpebral fissure	998	CDC42	ORPHA:487796
HP:0000582	Upslanted palpebral fissure	3097	HIVEP2	OMIM:616977
HP:0000582	Upslanted palpebral fissure	10982	MAPRE2	OMIM:616734
HP:0000582	Upslanted palpebral fissure	4952	OCRL	ORPHA:534
HP:0000582	Upslanted palpebral fissure	6904	TBCD	ORPHA:496641
HP:0000582	Upslanted palpebral fissure	6904	TBCD	OMIM:617193
HP:0000582	Upslanted palpebral fissure	1741	DLG3	OMIM:300850
HP:0000582	Upslanted palpebral fissure	51116	MRPS2	OMIM:617950
HP:0000582	Upslanted palpebral fissure	55906	ZC4H2	OMIM:314580
HP:0000582	Upslanted palpebral fissure	92255	LMBRD2	OMIM:619694
HP:0000582	Upslanted palpebral fissure	7468	NSD2	OMIM:619695
HP:0000582	Upslanted palpebral fissure	1108	CHD4	OMIM:617159
HP:0000582	Upslanted palpebral fissure	2260	FGFR1	OMIM:190440
HP:0000582	Upslanted palpebral fissure	29920	PYCR2	ORPHA:481152
HP:0000582	Upslanted palpebral fissure	29920	PYCR2	OMIM:616420
HP:0000582	Upslanted palpebral fissure	29920	PYCR2	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	23389	MED13L	ORPHA:369891
HP:0000582	Upslanted palpebral fissure	23389	MED13L	OMIM:616789
HP:0000582	Upslanted palpebral fissure	1312	COMT	ORPHA:567
HP:0000582	Upslanted palpebral fissure	221037	JMJD1C	ORPHA:567
HP:0000582	Upslanted palpebral fissure	2812	GP1BB	ORPHA:567
HP:0000582	Upslanted palpebral fissure	6239	RREB1	ORPHA:567
HP:0000582	Upslanted palpebral fissure	6899	TBX1	ORPHA:567
HP:0000582	Upslanted palpebral fissure	7290	HIRA	ORPHA:567
HP:0000582	Upslanted palpebral fissure	9632	SEC24C	ORPHA:567
HP:0000582	Upslanted palpebral fissure	7353	UFD1	ORPHA:567
HP:0000582	Upslanted palpebral fissure	421	ARVCF	ORPHA:567
HP:0000582	Upslanted palpebral fissure	9241	NOG	OMIM:186500
HP:0000582	Upslanted palpebral fissure	22827	PUF60	ORPHA:508488
HP:0000582	Upslanted palpebral fissure	1781	DYNC1I2	OMIM:618492
HP:0000582	Upslanted palpebral fissure	5422	POLA1	OMIM:301030
HP:0000582	Upslanted palpebral fissure	9451	EIF2AK3	OMIM:226980
HP:0000582	Upslanted palpebral fissure	5277	PIGA	OMIM:300868
HP:0000582	Upslanted palpebral fissure	25	ABL1	OMIM:617602
HP:0000582	Upslanted palpebral fissure	4613	MYCN	OMIM:164280
HP:0000582	Upslanted palpebral fissure	23384	SPECC1L	OMIM:145420
HP:0000582	Upslanted palpebral fissure	29980	DONSON	OMIM:617604
HP:0000582	Upslanted palpebral fissure	5116	PCNT	OMIM:210720
HP:0000582	Upslanted palpebral fissure	6638	SNRPN	ORPHA:177907
HP:0000582	Upslanted palpebral fissure	9343	EFTUD2	OMIM:610536
HP:0000582	Upslanted palpebral fissure	9343	EFTUD2	ORPHA:79113
HP:0000582	Upslanted palpebral fissure	59336	PRDM13	OMIM:619909
HP:0000582	Upslanted palpebral fissure	10771	ZMYND11	OMIM:616083
HP:0000582	Upslanted palpebral fissure	6611	SMS	ORPHA:3063
HP:0000582	Upslanted palpebral fissure	11212	PLPBP	OMIM:617290
HP:0000582	Upslanted palpebral fissure	84265	POLR3GL	OMIM:619234
HP:0000582	Upslanted palpebral fissure	348180	CTU2	OMIM:618142
HP:0000582	Upslanted palpebral fissure	51604	PIGT	ORPHA:369837
HP:0000582	Upslanted palpebral fissure	6711	SPTBN1	OMIM:619475
HP:0000582	Upslanted palpebral fissure	1213	CLTC	OMIM:617854
HP:0000582	Upslanted palpebral fissure	1861	TOR1A	OMIM:618947
HP:0000582	Upslanted palpebral fissure	4659	PPP1R12A	OMIM:618820
HP:0000582	Upslanted palpebral fissure	9894	TELO2	ORPHA:488642
HP:0000582	Upslanted palpebral fissure	79005	SCNM1	OMIM:620107
HP:0000582	Upslanted palpebral fissure	80036	TRPM3	OMIM:620224
HP:0000582	Upslanted palpebral fissure	25914	RTTN	ORPHA:468631
HP:0000582	Upslanted palpebral fissure	8936	WASF1	OMIM:618707
HP:0000582	Upslanted palpebral fissure	63932	STEEP1	OMIM:301013
HP:0000582	Upslanted palpebral fissure	7204	TRIO	OMIM:617061
HP:0000582	Upslanted palpebral fissure	23556	PIGN	ORPHA:280633
HP:0000582	Upslanted palpebral fissure	2571	GAD1	OMIM:619124
HP:0000582	Upslanted palpebral fissure	203068	TUBB	OMIM:156610
HP:0000582	Upslanted palpebral fissure	4841	NONO	OMIM:300967
HP:0000582	Upslanted palpebral fissure	4841	NONO	ORPHA:466791
HP:0000582	Upslanted palpebral fissure	54870	QRICH1	OMIM:617982
HP:0000582	Upslanted palpebral fissure	29123	ANKRD11	ORPHA:261250
HP:0000582	Upslanted palpebral fissure	28952	CCDC22	OMIM:300963
HP:0000582	Upslanted palpebral fissure	9508	ADAMTS3	OMIM:618154
HP:0000582	Upslanted palpebral fissure	90416	CCDC32	OMIM:619123
HP:0000582	Upslanted palpebral fissure	6911	TBX6	ORPHA:1797
HP:0000582	Upslanted palpebral fissure	3832	KIF11	ORPHA:2526
HP:0000582	Upslanted palpebral fissure	3832	KIF11	OMIM:152950
HP:0000582	Upslanted palpebral fissure	5500	PPP1CB	OMIM:617506
HP:0000582	Upslanted palpebral fissure	10551	AGR2	OMIM:620233
HP:0000582	Upslanted palpebral fissure	9320	TRIP12	OMIM:617752
HP:0000582	Upslanted palpebral fissure	1315	COPB1	OMIM:619255
HP:0000582	Upslanted palpebral fissure	1748	DLX4	OMIM:616788
HP:0000582	Upslanted palpebral fissure	2186	BPTF	OMIM:617755
HP:0000582	Upslanted palpebral fissure	4724	NDUFS4	OMIM:252010
HP:0000582	Upslanted palpebral fissure	3295	HSD17B4	OMIM:261515
HP:0000582	Upslanted palpebral fissure	4848	CNOT2	OMIM:618608
HP:0000582	Upslanted palpebral fissure	9276	COPB2	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	11113	CIT	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	9928	KIF14	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	22995	CEP152	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	284403	WDR62	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	55262	TRAPPC14	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	163786	SASS6	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	4176	MCM7	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	80254	CEP63	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	29081	METTL5	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	23310	NCAPD3	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	55755	CDK5RAP2	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	79648	MCPH1	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	6491	STIL	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	23141	ANKLE2	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	259266	ASPM	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	1911	PHC1	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	6884	TAF13	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	9662	CEP135	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	55835	CENPJ	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	57082	KNL1	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	1021	CDK6	ORPHA:2512
HP:0000582	Upslanted palpebral fissure	23133	PHF8	OMIM:300263
HP:0000582	Upslanted palpebral fissure	11011	TLK2	OMIM:618050
HP:0000582	Upslanted palpebral fissure	4204	MECP2	OMIM:300260
HP:0000582	Upslanted palpebral fissure	129285	PPP1R21	OMIM:619383
HP:0000582	Upslanted palpebral fissure	114034	TOE1	ORPHA:284339
HP:0000582	Upslanted palpebral fissure	9562	MINPP1	ORPHA:284339
HP:0000582	Upslanted palpebral fissure	11141	IL1RAPL1	OMIM:300143
HP:0000582	Upslanted palpebral fissure	27161	AGO2	OMIM:619149
HP:0000582	Upslanted palpebral fissure	23404	EXOSC2	OMIM:617763
HP:0000582	Upslanted palpebral fissure	1806	DPYD	ORPHA:293948
HP:0000582	Upslanted palpebral fissure	10844	TUBGCP2	OMIM:618737
HP:0000582	Upslanted palpebral fissure	84148	KAT8	OMIM:618974
HP:0000582	Upslanted palpebral fissure	3480	IGF1R	OMIM:270450
HP:0000585	Band keratopathy	80781	COL18A1	OMIM:267750
HP:0000585	Band keratopathy	8671	SLC4A4	OMIM:604278
HP:0000585	Band keratopathy	64127	NOD2	OMIM:186580
HP:0000585	Band keratopathy	30813	VSX1	OMIM:614195
HP:0000585	Band keratopathy	6775	STAT4	ORPHA:85410
HP:0000585	Band keratopathy	3560	IL2RB	ORPHA:85410
HP:0000585	Band keratopathy	79722	ANKRD55	ORPHA:85410
HP:0000585	Band keratopathy	26191	PTPN22	ORPHA:85410
HP:0000585	Band keratopathy	919	CD247	ORPHA:85410
HP:0000585	Band keratopathy	3559	IL2RA	ORPHA:85410
HP:0000585	Band keratopathy	5771	PTPN2	ORPHA:85410
HP:0000585	Band keratopathy	58495	OVOL2	OMIM:122000
HP:0000585	Band keratopathy	182	JAG1	OMIM:118450
HP:0000585	Band keratopathy	2778	GNAS	ORPHA:79443
HP:0000587	Abnormal optic nerve morphology	2625	GATA3	OMIM:146255
HP:0000587	Abnormal optic nerve morphology	114548	NLRP3	ORPHA:1451
HP:0000587	Abnormal optic nerve morphology	9488	PIGB	OMIM:618580
HP:0000587	Abnormal optic nerve morphology	778	CACNA1F	OMIM:300476
HP:0000587	Abnormal optic nerve morphology	54539	NDUFB11	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	51103	NDUFAF1	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	51300	TIMMDC1	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	4716	NDUFB10	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	55863	TMEM126B	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	4694	NDUFA1	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	4726	NDUFS6	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	4709	NDUFB3	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	80224	NUBPL	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	4715	NDUFB9	ORPHA:2609
HP:0000587	Abnormal optic nerve morphology	2895	GRID2	OMIM:616204
HP:0000587	Abnormal optic nerve morphology	7167	TPI1	OMIM:615512
HP:0000587	Abnormal optic nerve morphology	4598	MVK	OMIM:260920
HP:0000587	Abnormal optic nerve morphology	4598	MVK	OMIM:610377
HP:0000587	Abnormal optic nerve morphology	83700	JAM3	OMIM:613730
HP:0000587	Abnormal optic nerve morphology	56623	INPP5E	OMIM:213300
HP:0000587	Abnormal optic nerve morphology	4125	MAN2B1	ORPHA:309282
HP:0000587	Abnormal optic nerve morphology	4125	MAN2B1	ORPHA:309288
HP:0000587	Abnormal optic nerve morphology	1349	COX7B	OMIM:300887
HP:0000587	Abnormal optic nerve morphology	6809	STX3	OMIM:619446
HP:0000587	Abnormal optic nerve morphology	83715	ESPN	OMIM:618632
HP:0000587	Abnormal optic nerve morphology	6392	SDHD	OMIM:619167
HP:0000587	Abnormal optic nerve morphology	84816	RTN4IP1	OMIM:616732
HP:0000587	Abnormal optic nerve morphology	5010	CLDN11	OMIM:619328
HP:0000587	Abnormal optic nerve morphology	9179	AP4M1	OMIM:612936
HP:0000587	Abnormal optic nerve morphology	3105	HLA-A	ORPHA:179
HP:0000587	Abnormal optic nerve morphology	4718	NDUFC2	OMIM:619170
HP:0000587	Abnormal optic nerve morphology	84340	GFM2	ORPHA:565624
HP:0000587	Abnormal optic nerve morphology	64834	ELOVL1	OMIM:618527
HP:0000587	Abnormal optic nerve morphology	23761	PISD	OMIM:618889
HP:0000587	Abnormal optic nerve morphology	9445	ITM2B	OMIM:616079
HP:0000587	Abnormal optic nerve morphology	23327	NEDD4L	OMIM:617201
HP:0000587	Abnormal optic nerve morphology	8550	MAPKAPK5	OMIM:619869
HP:0000587	Abnormal optic nerve morphology	54664	TMEM106B	OMIM:617964
HP:0000587	Abnormal optic nerve morphology	55154	MSTO1	ORPHA:502423
HP:0000587	Abnormal optic nerve morphology	7840	ALMS1	ORPHA:64
HP:0000587	Abnormal optic nerve morphology	149371	EXOC8	OMIM:619076
HP:0000587	Abnormal optic nerve morphology	1861	TOR1A	OMIM:618947
HP:0000587	Abnormal optic nerve morphology	3035	HARS1	OMIM:614504
HP:0000587	Abnormal optic nerve morphology	90624	LYRM7	OMIM:615838
HP:0000587	Abnormal optic nerve morphology	84839	RAX2	OMIM:620102
HP:0000587	Abnormal optic nerve morphology	30813	VSX1	OMIM:614195
HP:0000587	Abnormal optic nerve morphology	1615	DARS1	OMIM:615281
HP:0000587	Abnormal optic nerve morphology	55617	TASP1	OMIM:618950
HP:0000587	Abnormal optic nerve morphology	200894	ARL13B	OMIM:612291
HP:0000587	Abnormal optic nerve morphology	388552	BLOC1S3	OMIM:614077
HP:0000587	Abnormal optic nerve morphology	3187	HNRNPH1	OMIM:620083
HP:0000587	Abnormal optic nerve morphology	3798	KIF5A	OMIM:617235
HP:0000587	Abnormal optic nerve morphology	112752	IFT43	OMIM:617871
HP:0000587	Abnormal optic nerve morphology	282809	POC1B	OMIM:615973
HP:0000587	Abnormal optic nerve morphology	2779	GNAT1	OMIM:616389
HP:0000587	Abnormal optic nerve morphology	2055	CLN8	ORPHA:1947
HP:0000587	Abnormal optic nerve morphology	23155	CLCC1	OMIM:609913
HP:0000587	Abnormal optic nerve morphology	9699	RIMS2	OMIM:618970
HP:0000587	Abnormal optic nerve morphology	55181	SMG8	OMIM:619268
HP:0000587	Abnormal optic nerve morphology	27072	VPS41	OMIM:619389
HP:0000587	Abnormal optic nerve morphology	55331	ACER3	OMIM:617762
HP:0000587	Abnormal optic nerve morphology	9181	ARHGEF2	OMIM:617523
HP:0000587	Abnormal optic nerve morphology	51095	TRNT1	OMIM:616959
HP:0000587	Abnormal optic nerve morphology	2677	GGCX	ORPHA:436274
HP:0000587	Abnormal optic nerve morphology	5728	PTEN	ORPHA:109
HP:0000587	Abnormal optic nerve morphology	2624	GATA2	ORPHA:3226
HP:0000587	Abnormal optic nerve morphology	9131	AIFM1	ORPHA:83629
HP:0000587	Abnormal optic nerve morphology	7299	TYR	ORPHA:79431
HP:0000587	Abnormal optic nerve morphology	7299	TYR	ORPHA:79434
HP:0000587	Abnormal optic nerve morphology	3476	IGBP1	OMIM:300472
HP:0000587	Abnormal optic nerve morphology	3476	IGBP1	ORPHA:52055
HP:0000587	Abnormal optic nerve morphology	4072	EPCAM	ORPHA:92050
HP:0000587	Abnormal optic nerve morphology	105371045	PERCC1	ORPHA:92050
HP:0000587	Abnormal optic nerve morphology	8260	NAA10	OMIM:309800
HP:0000587	Abnormal optic nerve morphology	8260	NAA10	ORPHA:568
HP:0000587	Abnormal optic nerve morphology	54880	BCOR	OMIM:309800
HP:0000587	Abnormal optic nerve morphology	54880	BCOR	ORPHA:568
HP:0000587	Abnormal optic nerve morphology	54496	PRMT7	OMIM:617157
HP:0000587	Abnormal optic nerve morphology	1663	DDX11	OMIM:613398
HP:0000587	Abnormal optic nerve morphology	55733	HHAT	OMIM:600092
HP:0000587	Abnormal optic nerve morphology	8085	KMT2D	OMIM:620186
HP:0000587	Abnormal optic nerve morphology	71	ACTG1	ORPHA:2995
HP:0000587	Abnormal optic nerve morphology	60	ACTB	ORPHA:2995
HP:0000587	Abnormal optic nerve morphology	10653	SPINT2	OMIM:270420
HP:0000587	Abnormal optic nerve morphology	8295	TRRAP	OMIM:618454
HP:0000587	Abnormal optic nerve morphology	83479	DDX59	OMIM:174300
HP:0000587	Abnormal optic nerve morphology	26005	C2CD3	OMIM:615948
HP:0000587	Abnormal optic nerve morphology	6297	SALL2	OMIM:216820
HP:0000587	Abnormal optic nerve morphology	50801	KCNK4	OMIM:618381
HP:0000587	Abnormal optic nerve morphology	2077	ERF	OMIM:600775
HP:0000587	Abnormal optic nerve morphology	23126	POGZ	OMIM:616364
HP:0000587	Abnormal optic nerve morphology	7737	RNF113A	OMIM:300953
HP:0000587	Abnormal optic nerve morphology	8022	LHX3	ORPHA:226307
HP:0000587	Abnormal optic nerve morphology	220	ALDH1A3	OMIM:615113
HP:0000587	Abnormal optic nerve morphology	8573	CASK	OMIM:300749
HP:0000587	Abnormal optic nerve morphology	8573	CASK	ORPHA:163937
HP:0000587	Abnormal optic nerve morphology	775	CACNA1C	OMIM:620029
HP:0000587	Abnormal optic nerve morphology	6334	SCN8A	OMIM:614306
HP:0000587	Abnormal optic nerve morphology	1788	DNMT3A	OMIM:615879
HP:0000587	Abnormal optic nerve morphology	51807	TUBA8	ORPHA:250972
HP:0000587	Abnormal optic nerve morphology	54820	NDE1	ORPHA:2177
HP:0000587	Abnormal optic nerve morphology	8854	ALDH1A2	OMIM:620025
HP:0000587	Abnormal optic nerve morphology	25914	RTTN	ORPHA:468631
HP:0000587	Abnormal optic nerve morphology	25914	RTTN	OMIM:614833
HP:0000587	Abnormal optic nerve morphology	8405	SPOP	OMIM:618828
HP:0000587	Abnormal optic nerve morphology	5293	PIK3CD	ORPHA:221139
HP:0000587	Abnormal optic nerve morphology	90417	KNSTRN	ORPHA:221139
HP:0000587	Abnormal optic nerve morphology	256297	PTF1A	OMIM:609069
HP:0000587	Abnormal optic nerve morphology	256297	PTF1A	ORPHA:65288
HP:0000587	Abnormal optic nerve morphology	55593	OTUD5	OMIM:301056
HP:0000587	Abnormal optic nerve morphology	3190	HNRNPK	ORPHA:453504
HP:0000587	Abnormal optic nerve morphology	3190	HNRNPK	ORPHA:352665
HP:0000587	Abnormal optic nerve morphology	55210	ATAD3A	ORPHA:496790
HP:0000587	Abnormal optic nerve morphology	57459	GATAD2B	ORPHA:363686
HP:0000587	Abnormal optic nerve morphology	29925	GMPPB	ORPHA:370959
HP:0000587	Abnormal optic nerve morphology	79147	FKRP	ORPHA:370959
HP:0000587	Abnormal optic nerve morphology	79147	FKRP	OMIM:236670
HP:0000587	Abnormal optic nerve morphology	29954	POMT2	ORPHA:370959
HP:0000587	Abnormal optic nerve morphology	29954	POMT2	OMIM:236670
HP:0000587	Abnormal optic nerve morphology	84197	POMK	ORPHA:370959
HP:0000587	Abnormal optic nerve morphology	10585	POMT1	ORPHA:370959
HP:0000587	Abnormal optic nerve morphology	10585	POMT1	OMIM:236670
HP:0000587	Abnormal optic nerve morphology	5605	MAP2K2	OMIM:615280
HP:0000587	Abnormal optic nerve morphology	8443	GNPAT	OMIM:222765
HP:0000587	Abnormal optic nerve morphology	2222	FDFT1	OMIM:618156
HP:0000587	Abnormal optic nerve morphology	29123	ANKRD11	ORPHA:261250
HP:0000587	Abnormal optic nerve morphology	8882	ZPR1	OMIM:619321
HP:0000587	Abnormal optic nerve morphology	55215	FANCI	OMIM:609053
HP:0000587	Abnormal optic nerve morphology	2893	GRIA4	OMIM:617864
HP:0000587	Abnormal optic nerve morphology	10730	YME1L1	OMIM:617302
HP:0000587	Abnormal optic nerve morphology	5500	PPP1CB	OMIM:617506
HP:0000587	Abnormal optic nerve morphology	29072	SETD2	OMIM:620157
HP:0000587	Abnormal optic nerve morphology	29072	SETD2	OMIM:620155
HP:0000587	Abnormal optic nerve morphology	57688	ZSWIM6	OMIM:603671
HP:0000587	Abnormal optic nerve morphology	9215	LARGE1	OMIM:236670
HP:0000587	Abnormal optic nerve morphology	2218	FKTN	OMIM:236670
HP:0000587	Abnormal optic nerve morphology	23499	MACF1	ORPHA:572013
HP:0000587	Abnormal optic nerve morphology	387119	CEP85L	ORPHA:572013
HP:0000587	Abnormal optic nerve morphology	7846	TUBA1A	ORPHA:171680
HP:0000587	Abnormal optic nerve morphology	4208	MEF2C	ORPHA:228384
HP:0000587	Abnormal optic nerve morphology	6651	SON	ORPHA:500150
HP:0000587	Abnormal optic nerve morphology	51360	MBTPS2	ORPHA:85284
HP:0000587	Abnormal optic nerve morphology	729920	CRPPA	OMIM:614643
HP:0000587	Abnormal optic nerve morphology	9968	MED12	ORPHA:93932
HP:0000587	Abnormal optic nerve morphology	10381	TUBB3	ORPHA:300570
HP:0000587	Abnormal optic nerve morphology	9928	KIF14	OMIM:617914
HP:0000587	Abnormal optic nerve morphology	1063	CENPF	OMIM:243605
HP:0000587	Abnormal optic nerve morphology	9401	RECQL4	OMIM:218600
HP:0000587	Abnormal optic nerve morphology	148789	B3GALNT2	OMIM:615181
HP:0000587	Abnormal optic nerve morphology	80173	IFT74	OMIM:619582
HP:0000587	Abnormal optic nerve morphology	25930	PTPN23	OMIM:618890
HP:0000587	Abnormal optic nerve morphology	132158	GLYCTK	OMIM:220120
HP:0000587	Abnormal optic nerve morphology	7545	ZIC1	OMIM:618736
HP:0000587	Abnormal optic nerve morphology	5518	PPP2R1A	ORPHA:457284
HP:0000587	Abnormal optic nerve morphology	4747	NEFL	ORPHA:101085
HP:0000587	Abnormal optic nerve morphology	7490	WT1	OMIM:106210
HP:0000587	Abnormal optic nerve morphology	26191	PTPN22	ORPHA:397
HP:0000587	Abnormal optic nerve morphology	3123	HLA-DRB1	ORPHA:397
HP:0000587	Abnormal optic nerve morphology	8974	P4HA2	ORPHA:397
HP:0000587	Abnormal optic nerve morphology	875	CBS	ORPHA:394
HP:0000587	Abnormal optic nerve morphology	4524	MTHFR	ORPHA:395
HP:0000587	Abnormal optic nerve morphology	55703	POLR3B	OMIM:614381
HP:0000587	Abnormal optic nerve morphology	55703	POLR3B	OMIM:607694
HP:0000587	Abnormal optic nerve morphology	10617	STAMBP	OMIM:614261
HP:0000587	Abnormal optic nerve morphology	51256	TBC1D7	OMIM:248000
HP:0000587	Abnormal optic nerve morphology	55823	VPS11	OMIM:616683
HP:0000587	Abnormal optic nerve morphology	55823	VPS11	ORPHA:466934
HP:0000587	Abnormal optic nerve morphology	23446	SLC44A1	OMIM:618868
HP:0000587	Abnormal optic nerve morphology	8518	ELP1	ORPHA:1764
HP:0000587	Abnormal optic nerve morphology	201595	STT3B	OMIM:615597
HP:0000587	Abnormal optic nerve morphology	201595	STT3B	ORPHA:370924
HP:0000587	Abnormal optic nerve morphology	4897	NRCAM	OMIM:619833
HP:0000587	Abnormal optic nerve morphology	2720	GLB1	OMIM:230600
HP:0000587	Abnormal optic nerve morphology	84334	COA8	ORPHA:436271
HP:0000587	Abnormal optic nerve morphology	1786	DNMT1	ORPHA:314404
HP:0000587	Abnormal optic nerve morphology	1786	DNMT1	OMIM:604121
HP:0000587	Abnormal optic nerve morphology	755	CFAP410	OMIM:602271
HP:0000587	Abnormal optic nerve morphology	84942	WDR73	OMIM:251300
HP:0000587	Abnormal optic nerve morphology	84942	WDR73	ORPHA:83472
HP:0000587	Abnormal optic nerve morphology	1736	DKC1	OMIM:305000
HP:0000587	Abnormal optic nerve morphology	51	ACOX1	ORPHA:2971
HP:0000587	Abnormal optic nerve morphology	51	ACOX1	OMIM:264470
HP:0000587	Abnormal optic nerve morphology	1161	ERCC8	ORPHA:90321
HP:0000587	Abnormal optic nerve morphology	1161	ERCC8	OMIM:216400
HP:0000587	Abnormal optic nerve morphology	2072	ERCC4	ORPHA:90321
HP:0000587	Abnormal optic nerve morphology	2072	ERCC4	OMIM:610965
HP:0000587	Abnormal optic nerve morphology	2072	ERCC4	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	2072	ERCC4	ORPHA:220295
HP:0000587	Abnormal optic nerve morphology	2074	ERCC6	ORPHA:90321
HP:0000587	Abnormal optic nerve morphology	2074	ERCC6	OMIM:278800
HP:0000587	Abnormal optic nerve morphology	2074	ERCC6	OMIM:133540
HP:0000587	Abnormal optic nerve morphology	2074	ERCC6	ORPHA:1466
HP:0000587	Abnormal optic nerve morphology	6687	SPG7	ORPHA:99013
HP:0000587	Abnormal optic nerve morphology	6687	SPG7	OMIM:607259
HP:0000587	Abnormal optic nerve morphology	5354	PLP1	ORPHA:99015
HP:0000587	Abnormal optic nerve morphology	5354	PLP1	ORPHA:280234
HP:0000587	Abnormal optic nerve morphology	5354	PLP1	OMIM:312080
HP:0000587	Abnormal optic nerve morphology	5354	PLP1	OMIM:312920
HP:0000587	Abnormal optic nerve morphology	57165	GJC2	OMIM:608804
HP:0000587	Abnormal optic nerve morphology	4537	MT-ND3	ORPHA:255210
HP:0000587	Abnormal optic nerve morphology	4567	MT-TL1	ORPHA:255210
HP:0000587	Abnormal optic nerve morphology	4567	MT-TL1	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4567	MT-TL1	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4578	MT-TW	ORPHA:255210
HP:0000587	Abnormal optic nerve morphology	4578	MT-TW	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4577	MT-TV	ORPHA:255210
HP:0000587	Abnormal optic nerve morphology	4566	MT-TK	ORPHA:255210
HP:0000587	Abnormal optic nerve morphology	4566	MT-TK	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	8566	PDXK	OMIM:618511
HP:0000587	Abnormal optic nerve morphology	65993	MRPS34	OMIM:617664
HP:0000587	Abnormal optic nerve morphology	6536	SLC6A9	OMIM:617301
HP:0000587	Abnormal optic nerve morphology	51741	WWOX	OMIM:616211
HP:0000587	Abnormal optic nerve morphology	51741	WWOX	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	51741	WWOX	OMIM:614322
HP:0000587	Abnormal optic nerve morphology	200205	IBA57	OMIM:616451
HP:0000587	Abnormal optic nerve morphology	200205	IBA57	ORPHA:468661
HP:0000587	Abnormal optic nerve morphology	200205	IBA57	OMIM:615330
HP:0000587	Abnormal optic nerve morphology	26504	CNNM4	ORPHA:1873
HP:0000587	Abnormal optic nerve morphology	65082	VPS33A	OMIM:617303
HP:0000587	Abnormal optic nerve morphology	65082	VPS33A	ORPHA:505248
HP:0000587	Abnormal optic nerve morphology	55768	NGLY1	ORPHA:404454
HP:0000587	Abnormal optic nerve morphology	55636	CHD7	ORPHA:138
HP:0000587	Abnormal optic nerve morphology	9723	SEMA3E	ORPHA:138
HP:0000587	Abnormal optic nerve morphology	6660	SOX5	ORPHA:313892
HP:0000587	Abnormal optic nerve morphology	6660	SOX5	OMIM:616803
HP:0000587	Abnormal optic nerve morphology	410	ARSA	ORPHA:309271
HP:0000587	Abnormal optic nerve morphology	410	ARSA	ORPHA:309263
HP:0000587	Abnormal optic nerve morphology	410	ARSA	OMIM:250100
HP:0000587	Abnormal optic nerve morphology	410	ARSA	ORPHA:309256
HP:0000587	Abnormal optic nerve morphology	5660	PSAP	ORPHA:309271
HP:0000587	Abnormal optic nerve morphology	5660	PSAP	ORPHA:309263
HP:0000587	Abnormal optic nerve morphology	5660	PSAP	OMIM:611721
HP:0000587	Abnormal optic nerve morphology	5660	PSAP	ORPHA:309256
HP:0000587	Abnormal optic nerve morphology	5660	PSAP	ORPHA:206436
HP:0000587	Abnormal optic nerve morphology	284058	KANSL1	ORPHA:363958
HP:0000587	Abnormal optic nerve morphology	284058	KANSL1	ORPHA:363965
HP:0000587	Abnormal optic nerve morphology	5105	PCK1	OMIM:261680
HP:0000587	Abnormal optic nerve morphology	7994	KAT6A	ORPHA:457193
HP:0000587	Abnormal optic nerve morphology	7994	KAT6A	OMIM:616268
HP:0000587	Abnormal optic nerve morphology	9326	ZNHIT3	ORPHA:2836
HP:0000587	Abnormal optic nerve morphology	9326	ZNHIT3	OMIM:260565
HP:0000587	Abnormal optic nerve morphology	547	KIF1A	ORPHA:2836
HP:0000587	Abnormal optic nerve morphology	547	KIF1A	OMIM:614255
HP:0000587	Abnormal optic nerve morphology	55681	SCYL2	OMIM:618766
HP:0000587	Abnormal optic nerve morphology	85465	SELENOI	OMIM:618768
HP:0000587	Abnormal optic nerve morphology	2697	GJA1	ORPHA:2710
HP:0000587	Abnormal optic nerve morphology	2697	GJA1	OMIM:218400
HP:0000587	Abnormal optic nerve morphology	157680	VPS13B	OMIM:216550
HP:0000587	Abnormal optic nerve morphology	157680	VPS13B	ORPHA:193
HP:0000587	Abnormal optic nerve morphology	55149	MTPAP	ORPHA:254343
HP:0000587	Abnormal optic nerve morphology	55149	MTPAP	OMIM:613672
HP:0000587	Abnormal optic nerve morphology	171023	ASXL1	ORPHA:97297
HP:0000587	Abnormal optic nerve morphology	10484	SEC23A	OMIM:607812
HP:0000587	Abnormal optic nerve morphology	10815	CPLX1	ORPHA:280
HP:0000587	Abnormal optic nerve morphology	54872	PIGG	ORPHA:280
HP:0000587	Abnormal optic nerve morphology	7469	NELFA	ORPHA:280
HP:0000587	Abnormal optic nerve morphology	1487	CTBP1	ORPHA:280
HP:0000587	Abnormal optic nerve morphology	7468	NSD2	ORPHA:280
HP:0000587	Abnormal optic nerve morphology	22872	SEC31A	OMIM:618651
HP:0000587	Abnormal optic nerve morphology	83636	C19orf12	OMIM:614298
HP:0000587	Abnormal optic nerve morphology	83636	C19orf12	OMIM:615043
HP:0000587	Abnormal optic nerve morphology	5833	PCYT2	OMIM:618770
HP:0000587	Abnormal optic nerve morphology	7466	WFS1	OMIM:614296
HP:0000587	Abnormal optic nerve morphology	7466	WFS1	OMIM:222300
HP:0000587	Abnormal optic nerve morphology	7466	WFS1	ORPHA:3463
HP:0000587	Abnormal optic nerve morphology	7466	WFS1	ORPHA:411590
HP:0000587	Abnormal optic nerve morphology	388962	BOLA3	OMIM:614299
HP:0000587	Abnormal optic nerve morphology	1201	CLN3	OMIM:204200
HP:0000587	Abnormal optic nerve morphology	1201	CLN3	ORPHA:228346
HP:0000587	Abnormal optic nerve morphology	284184	NDUFAF8	OMIM:618776
HP:0000587	Abnormal optic nerve morphology	79731	NARS2	OMIM:616239
HP:0000587	Abnormal optic nerve morphology	89910	UBE3B	ORPHA:2707
HP:0000587	Abnormal optic nerve morphology	3737	KCNA2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	1759	DNM1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	1759	DNM1	OMIM:620352
HP:0000587	Abnormal optic nerve morphology	8120	AP3B2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	523	ATP6V1A	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	523	ATP6V1A	OMIM:618012
HP:0000587	Abnormal optic nerve morphology	10991	SLC38A3	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	51343	FZR1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	22906	TRAK1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2566	GABRG2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	1917	EEF1A2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2561	GABRB2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	8831	SYNGAP1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	7532	YWHAG	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	79876	UBA5	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	6328	SCN3A	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2558	GABRA5	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	781	CACNA2D1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2906	GRIN2D	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	116150	NUS1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	10659	CELF2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	774	CACNA1B	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	1213	CLTC	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	23334	SZT2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	51412	ACTL6B	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	348980	HCN1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	6506	SLC1A2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	8867	SYNJ1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2258	FGF13	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	477	ATP1A2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	3745	KCNB1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	284111	SLC13A5	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	25977	NECAP1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	16	AARS1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	22866	CNKSR2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	9568	GABBR2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	2555	GABRA2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	55152	DALRD3	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	773	CACNA1A	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	26999	CYFIP2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	4915	NTRK2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	4915	NTRK2	OMIM:617830
HP:0000587	Abnormal optic nerve morphology	25973	PARS2	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	25973	PARS2	OMIM:618437
HP:0000587	Abnormal optic nerve morphology	23097	CDK19	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	64801	ARV1	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	79947	DHDDS	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	79947	DHDDS	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	2257	FGF12	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	5530	PPP3CA	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	478	ATP1A3	ORPHA:442835
HP:0000587	Abnormal optic nerve morphology	478	ATP1A3	OMIM:601338
HP:0000587	Abnormal optic nerve morphology	478	ATP1A3	ORPHA:1171
HP:0000587	Abnormal optic nerve morphology	6905	TBCE	OMIM:617207
HP:0000587	Abnormal optic nerve morphology	6905	TBCE	ORPHA:496756
HP:0000587	Abnormal optic nerve morphology	9927	MFN2	OMIM:601152
HP:0000587	Abnormal optic nerve morphology	9927	MFN2	OMIM:609260
HP:0000587	Abnormal optic nerve morphology	9927	MFN2	OMIM:617087
HP:0000587	Abnormal optic nerve morphology	9927	MFN2	ORPHA:99947
HP:0000587	Abnormal optic nerve morphology	8241	RBM10	OMIM:311900
HP:0000587	Abnormal optic nerve morphology	8241	RBM10	ORPHA:2886
HP:0000587	Abnormal optic nerve morphology	25794	FSCN2	OMIM:607921
HP:0000587	Abnormal optic nerve morphology	25794	FSCN2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	1182	CLCN3	OMIM:619512
HP:0000587	Abnormal optic nerve morphology	91574	MTRFR	OMIM:615035
HP:0000587	Abnormal optic nerve morphology	91574	MTRFR	ORPHA:320375
HP:0000587	Abnormal optic nerve morphology	91574	MTRFR	ORPHA:254930
HP:0000587	Abnormal optic nerve morphology	91574	MTRFR	OMIM:613559
HP:0000587	Abnormal optic nerve morphology	27125	AFF4	OMIM:616368
HP:0000587	Abnormal optic nerve morphology	92609	TIMM50	OMIM:617698
HP:0000587	Abnormal optic nerve morphology	92609	TIMM50	ORPHA:505216
HP:0000587	Abnormal optic nerve morphology	51692	CPSF3	OMIM:619876
HP:0000587	Abnormal optic nerve morphology	3098	HK1	OMIM:618547
HP:0000587	Abnormal optic nerve morphology	150468	CKAP2L	OMIM:272440
HP:0000587	Abnormal optic nerve morphology	150468	CKAP2L	ORPHA:3255
HP:0000587	Abnormal optic nerve morphology	5590	PRKCZ	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	2563	GABRD	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	23013	SPEN	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	8510	MMP23B	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	7798	LUZP1	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	6497	SKI	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	10630	PDPN	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	3339	HSPG2	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	10277	UBE4B	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	8514	KCNAB2	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	473	RERE	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	473	RERE	ORPHA:494344
HP:0000587	Abnormal optic nerve morphology	473	RERE	OMIM:616975
HP:0000587	Abnormal optic nerve morphology	63976	PRDM16	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	54897	CASZ1	ORPHA:1606
HP:0000587	Abnormal optic nerve morphology	84277	DNAJC30	ORPHA:104
HP:0000587	Abnormal optic nerve morphology	4720	NDUFS2	ORPHA:104
HP:0000587	Abnormal optic nerve morphology	4720	NDUFS2	OMIM:618228
HP:0000587	Abnormal optic nerve morphology	4720	NDUFS2	ORPHA:70474
HP:0000587	Abnormal optic nerve morphology	4720	NDUFS2	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4512	MT-CO1	ORPHA:104
HP:0000587	Abnormal optic nerve morphology	4512	MT-CO1	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	285362	SUMF1	ORPHA:585
HP:0000587	Abnormal optic nerve morphology	4644	MYO5A	ORPHA:33445
HP:0000587	Abnormal optic nerve morphology	8818	DPM2	OMIM:615042
HP:0000587	Abnormal optic nerve morphology	8818	DPM2	ORPHA:329178
HP:0000587	Abnormal optic nerve morphology	122961	ISCA2	OMIM:616370
HP:0000587	Abnormal optic nerve morphology	8733	GPAA1	ORPHA:529665
HP:0000587	Abnormal optic nerve morphology	8733	GPAA1	OMIM:617810
HP:0000587	Abnormal optic nerve morphology	2232	FDXR	ORPHA:543470
HP:0000587	Abnormal optic nerve morphology	2232	FDXR	OMIM:617717
HP:0000587	Abnormal optic nerve morphology	4849	CNOT3	OMIM:618672
HP:0000587	Abnormal optic nerve morphology	56947	MFF	ORPHA:485421
HP:0000587	Abnormal optic nerve morphology	56947	MFF	OMIM:617086
HP:0000587	Abnormal optic nerve morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	OMIM:123790
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	ORPHA:794
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	OMIM:123500
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	ORPHA:207
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	ORPHA:87
HP:0000587	Abnormal optic nerve morphology	2263	FGFR2	ORPHA:1555
HP:0000587	Abnormal optic nerve morphology	9562	MINPP1	OMIM:619527
HP:0000587	Abnormal optic nerve morphology	9562	MINPP1	ORPHA:284339
HP:0000587	Abnormal optic nerve morphology	256471	MFSD8	OMIM:610951
HP:0000587	Abnormal optic nerve morphology	7841	MOGS	ORPHA:79330
HP:0000587	Abnormal optic nerve morphology	7841	MOGS	OMIM:606056
HP:0000587	Abnormal optic nerve morphology	56652	TWNK	OMIM:271245
HP:0000587	Abnormal optic nerve morphology	56652	TWNK	ORPHA:1186
HP:0000587	Abnormal optic nerve morphology	2271	FH	OMIM:606812
HP:0000587	Abnormal optic nerve morphology	5981	RFC1	ORPHA:504476
HP:0000587	Abnormal optic nerve morphology	197258	FCSK	OMIM:618324
HP:0000587	Abnormal optic nerve morphology	2395	FXN	OMIM:229300
HP:0000587	Abnormal optic nerve morphology	2395	FXN	ORPHA:95
HP:0000587	Abnormal optic nerve morphology	10463	SLC30A9	OMIM:617595
HP:0000587	Abnormal optic nerve morphology	125988	MICOS13	OMIM:618329
HP:0000587	Abnormal optic nerve morphology	84168	ANTXR1	OMIM:230740
HP:0000587	Abnormal optic nerve morphology	84168	ANTXR1	ORPHA:2067
HP:0000587	Abnormal optic nerve morphology	25836	NIPBL	OMIM:122470
HP:0000587	Abnormal optic nerve morphology	9725	TMEM63A	OMIM:618688
HP:0000587	Abnormal optic nerve morphology	8813	DPM1	ORPHA:79322
HP:0000587	Abnormal optic nerve morphology	8813	DPM1	OMIM:608799
HP:0000587	Abnormal optic nerve morphology	9526	MPDU1	ORPHA:79323
HP:0000587	Abnormal optic nerve morphology	9526	MPDU1	OMIM:609180
HP:0000587	Abnormal optic nerve morphology	79053	ALG8	ORPHA:79325
HP:0000587	Abnormal optic nerve morphology	57192	MCOLN1	OMIM:252650
HP:0000587	Abnormal optic nerve morphology	1967	EIF2B1	OMIM:603896
HP:0000587	Abnormal optic nerve morphology	10195	ALG3	OMIM:601110
HP:0000587	Abnormal optic nerve morphology	10533	ATG7	OMIM:619422
HP:0000587	Abnormal optic nerve morphology	91137	SLC25A46	OMIM:619303
HP:0000587	Abnormal optic nerve morphology	91137	SLC25A46	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	91137	SLC25A46	OMIM:616505
HP:0000587	Abnormal optic nerve morphology	58497	PRUNE1	OMIM:617481
HP:0000587	Abnormal optic nerve morphology	58497	PRUNE1	ORPHA:544469
HP:0000587	Abnormal optic nerve morphology	55656	INTS8	OMIM:618572
HP:0000587	Abnormal optic nerve morphology	11232	POLG2	OMIM:619425
HP:0000587	Abnormal optic nerve morphology	8905	AP1S2	OMIM:304340
HP:0000587	Abnormal optic nerve morphology	4594	MMUT	ORPHA:79312
HP:0000587	Abnormal optic nerve morphology	4594	MMUT	ORPHA:289916
HP:0000587	Abnormal optic nerve morphology	7291	TWIST1	ORPHA:794
HP:0000587	Abnormal optic nerve morphology	2261	FGFR3	ORPHA:794
HP:0000587	Abnormal optic nerve morphology	2261	FGFR3	ORPHA:93262
HP:0000587	Abnormal optic nerve morphology	4558	MT-TF	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4558	MT-TF	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4549	MT-RNR1	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4574	MT-TS1	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4574	MT-TS1	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4574	MT-TS1	OMIM:220110
HP:0000587	Abnormal optic nerve morphology	4575	MT-TS2	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4575	MT-TS2	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4571	MT-TP	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4572	MT-TQ	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4572	MT-TQ	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	4564	MT-TH	ORPHA:551
HP:0000587	Abnormal optic nerve morphology	4564	MT-TH	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	3912	LAMB1	OMIM:615191
HP:0000587	Abnormal optic nerve morphology	3912	LAMB1	ORPHA:352682
HP:0000587	Abnormal optic nerve morphology	4513	MT-CO2	ORPHA:550
HP:0000587	Abnormal optic nerve morphology	92840	REEP6	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6094	ROM1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6017	RLBP1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	7401	CLRN1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	24	ABCA4	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	130557	ZNF513	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	582	BBS1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	92211	CDHR1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	23568	ARL2BP	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	54806	AHI1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6101	RP1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	3419	IDH3A	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	4751	NEK2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	346007	EYS	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	8100	IFT88	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	23020	SNRNP200	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	762	CA4	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	196	AHR	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	123016	TTC8	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6103	RPGR	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5148	PDE6G	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	26121	PRPF31	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	583	BBS2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	4117	MAK	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	375298	CERKL	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	3420	IDH3B	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	57670	KIAA1549	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	24148	PRPF6	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	10461	MERTK	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	57709	SLC7A14	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	768206	PRCD	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	7399	USH2A	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	23370	ARHGEF18	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5949	RBP3	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6010	RHO	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6100	RP9	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	10002	NR2E3	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	84140	FAM161A	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	403	ARL3	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5145	PDE6A	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	10210	TOPORS	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	8842	PROM1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	9128	PRPF4	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	50939	IMPG2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	8481	OFD1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	2979	GUCA1B	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	1259	CNGA1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	1258	CNGB1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	60509	AGBL5	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5961	PRPH2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	388939	PCARE	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	7439	BEST1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	9785	DHX38	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5995	RGR	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	9129	PRPF3	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	3617	IMPG1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	94137	RP1L1	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	5158	PDE6B	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6102	RP2	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	55857	KIZ	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	64218	SEMA4A	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	4901	NRL	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	157657	CFAP418	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	84100	ARL6	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	6295	SAG	ORPHA:791
HP:0000587	Abnormal optic nerve morphology	10785	WDR4	OMIM:618346
HP:0000587	Abnormal optic nerve morphology	50	ACO2	OMIM:616289
HP:0000587	Abnormal optic nerve morphology	50	ACO2	OMIM:614559
HP:0000587	Abnormal optic nerve morphology	160418	TMTC3	OMIM:617255
HP:0000587	Abnormal optic nerve morphology	51728	POLR3K	OMIM:619310
HP:0000587	Abnormal optic nerve morphology	4719	NDUFS1	OMIM:618226
HP:0000587	Abnormal optic nerve morphology	4719	NDUFS1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4729	NDUFV2	OMIM:618229
HP:0000587	Abnormal optic nerve morphology	4729	NDUFV2	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	2767	GNA11	ORPHA:428
HP:0000587	Abnormal optic nerve morphology	846	CASR	ORPHA:428
HP:0000587	Abnormal optic nerve morphology	23345	SYNE1	OMIM:610743
HP:0000587	Abnormal optic nerve morphology	10102	TSFM	OMIM:610505
HP:0000587	Abnormal optic nerve morphology	128869	PIGU	OMIM:618590
HP:0000587	Abnormal optic nerve morphology	10733	PLK4	OMIM:616171
HP:0000587	Abnormal optic nerve morphology	10733	PLK4	ORPHA:2518
HP:0000587	Abnormal optic nerve morphology	91942	NDUFAF2	OMIM:618233
HP:0000587	Abnormal optic nerve morphology	91942	NDUFAF2	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	81790	RNF170	OMIM:619686
HP:0000587	Abnormal optic nerve morphology	23102	TBC1D2B	OMIM:619323
HP:0000587	Abnormal optic nerve morphology	1436	CSF1R	OMIM:618476
HP:0000587	Abnormal optic nerve morphology	26610	ELP4	OMIM:617141
HP:0000587	Abnormal optic nerve morphology	79868	ALG13	OMIM:300884
HP:0000587	Abnormal optic nerve morphology	126328	NDUFA11	OMIM:618236
HP:0000587	Abnormal optic nerve morphology	10978	CLP1	ORPHA:411493
HP:0000587	Abnormal optic nerve morphology	29078	NDUFAF4	OMIM:618237
HP:0000587	Abnormal optic nerve morphology	79133	NDUFAF5	OMIM:618238
HP:0000587	Abnormal optic nerve morphology	79133	NDUFAF5	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	7248	TSC1	ORPHA:538
HP:0000587	Abnormal optic nerve morphology	7249	TSC2	ORPHA:538
HP:0000587	Abnormal optic nerve morphology	11152	WDR45	ORPHA:329284
HP:0000587	Abnormal optic nerve morphology	443	ASPA	ORPHA:314911
HP:0000587	Abnormal optic nerve morphology	443	ASPA	OMIM:271900
HP:0000587	Abnormal optic nerve morphology	154881	KCTD7	OMIM:611726
HP:0000587	Abnormal optic nerve morphology	154881	KCTD7	ORPHA:263516
HP:0000587	Abnormal optic nerve morphology	84892	POMGNT2	ORPHA:899
HP:0000587	Abnormal optic nerve morphology	10329	RXYLT1	ORPHA:899
HP:0000587	Abnormal optic nerve morphology	1605	DAG1	ORPHA:899
HP:0000587	Abnormal optic nerve morphology	79944	L2HGDH	OMIM:236792
HP:0000587	Abnormal optic nerve morphology	8869	ST3GAL5	OMIM:609056
HP:0000587	Abnormal optic nerve morphology	6904	TBCD	ORPHA:496641
HP:0000587	Abnormal optic nerve morphology	6904	TBCD	OMIM:617193
HP:0000587	Abnormal optic nerve morphology	5934	RBL2	OMIM:619690
HP:0000587	Abnormal optic nerve morphology	56915	EXOSC5	OMIM:619576
HP:0000587	Abnormal optic nerve morphology	22930	RAB3GAP1	OMIM:600118
HP:0000587	Abnormal optic nerve morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000587	Abnormal optic nerve morphology	55572	FOXRED1	OMIM:618241
HP:0000587	Abnormal optic nerve morphology	55572	FOXRED1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	123263	MTFMT	OMIM:618248
HP:0000587	Abnormal optic nerve morphology	123263	MTFMT	OMIM:614947
HP:0000587	Abnormal optic nerve morphology	123263	MTFMT	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	51079	NDUFA13	OMIM:618249
HP:0000587	Abnormal optic nerve morphology	51079	NDUFA13	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	549	AUH	OMIM:250950
HP:0000587	Abnormal optic nerve morphology	1312	COMT	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	221037	JMJD1C	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	2812	GP1BB	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	6239	RREB1	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	6899	TBX1	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	7290	HIRA	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	9632	SEC24C	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	7353	UFD1	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	421	ARVCF	ORPHA:567
HP:0000587	Abnormal optic nerve morphology	2717	GLA	ORPHA:324
HP:0000587	Abnormal optic nerve morphology	84314	TMEM107	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	26123	TCTN3	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	79867	TCTN2	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	80776	B9D2	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	79600	TCTN1	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	51259	TMEM216	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	57545	CC2D2A	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	79583	TMEM231	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	91147	TMEM67	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	79770	TXNDC15	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	27077	B9D1	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	23322	RPGRIP1L	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	54903	MKS1	ORPHA:564
HP:0000587	Abnormal optic nerve morphology	112812	FDX2	OMIM:251900
HP:0000587	Abnormal optic nerve morphology	51102	MECR	OMIM:617282
HP:0000587	Abnormal optic nerve morphology	51102	MECR	ORPHA:508093
HP:0000587	Abnormal optic nerve morphology	23258	DENND5A	OMIM:617281
HP:0000587	Abnormal optic nerve morphology	9758	FRMPD4	OMIM:300983
HP:0000587	Abnormal optic nerve morphology	54681	P4HTM	OMIM:618493
HP:0000587	Abnormal optic nerve morphology	4700	NDUFA6	OMIM:618253
HP:0000587	Abnormal optic nerve morphology	2071	ERCC3	OMIM:610651
HP:0000587	Abnormal optic nerve morphology	2071	ERCC3	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	2071	ERCC3	ORPHA:220295
HP:0000587	Abnormal optic nerve morphology	5573	PRKAR1A	OMIM:101800
HP:0000587	Abnormal optic nerve morphology	64374	SIL1	ORPHA:559
HP:0000587	Abnormal optic nerve morphology	51763	INPP5K	ORPHA:559
HP:0000587	Abnormal optic nerve morphology	60386	SLC25A19	ORPHA:99742
HP:0000587	Abnormal optic nerve morphology	60386	SLC25A19	OMIM:607196
HP:0000587	Abnormal optic nerve morphology	28982	FLVCR1	OMIM:609033
HP:0000587	Abnormal optic nerve morphology	3028	HSD17B10	ORPHA:391428
HP:0000587	Abnormal optic nerve morphology	3028	HSD17B10	OMIM:300438
HP:0000587	Abnormal optic nerve morphology	84065	TMEM222	OMIM:619470
HP:0000587	Abnormal optic nerve morphology	29926	GMPPA	ORPHA:869
HP:0000587	Abnormal optic nerve morphology	60684	TRAPPC11	ORPHA:869
HP:0000587	Abnormal optic nerve morphology	8086	AAAS	ORPHA:869
HP:0000587	Abnormal optic nerve morphology	8086	AAAS	OMIM:231550
HP:0000587	Abnormal optic nerve morphology	526	ATP6V1B2	ORPHA:79500
HP:0000587	Abnormal optic nerve morphology	57465	TBC1D24	ORPHA:79500
HP:0000587	Abnormal optic nerve morphology	57465	TBC1D24	ORPHA:352596
HP:0000587	Abnormal optic nerve morphology	57465	TBC1D24	OMIM:220500
HP:0000587	Abnormal optic nerve morphology	57465	TBC1D24	OMIM:615338
HP:0000587	Abnormal optic nerve morphology	136647	MPLKIP	OMIM:234050
HP:0000587	Abnormal optic nerve morphology	493856	CISD2	OMIM:604928
HP:0000587	Abnormal optic nerve morphology	493856	CISD2	ORPHA:3463
HP:0000587	Abnormal optic nerve morphology	22978	NT5C2	ORPHA:320396
HP:0000587	Abnormal optic nerve morphology	22978	NT5C2	OMIM:613162
HP:0000587	Abnormal optic nerve morphology	100147744	RNU7-1	OMIM:619487
HP:0000587	Abnormal optic nerve morphology	5189	PEX1	OMIM:601539
HP:0000587	Abnormal optic nerve morphology	5189	PEX1	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5189	PEX1	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5189	PEX1	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	51715	RAB23	OMIM:201000
HP:0000587	Abnormal optic nerve morphology	79152	FA2H	ORPHA:171629
HP:0000587	Abnormal optic nerve morphology	79152	FA2H	ORPHA:329308
HP:0000587	Abnormal optic nerve morphology	79152	FA2H	OMIM:612319
HP:0000587	Abnormal optic nerve morphology	9373	PLAA	ORPHA:521426
HP:0000587	Abnormal optic nerve morphology	9373	PLAA	OMIM:617527
HP:0000587	Abnormal optic nerve morphology	23516	SLC39A14	OMIM:144755
HP:0000587	Abnormal optic nerve morphology	55670	PEX26	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	55670	PEX26	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	55670	PEX26	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5824	PEX19	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5824	PEX19	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5824	PEX19	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	8504	PEX3	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	8504	PEX3	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	8504	PEX3	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	9409	PEX16	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	9409	PEX16	OMIM:614877
HP:0000587	Abnormal optic nerve morphology	9409	PEX16	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	9409	PEX16	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5190	PEX6	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5190	PEX6	ORPHA:95433
HP:0000587	Abnormal optic nerve morphology	5190	PEX6	OMIM:614863
HP:0000587	Abnormal optic nerve morphology	5190	PEX6	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5190	PEX6	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	8799	PEX11B	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	8799	PEX11B	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	8799	PEX11B	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5193	PEX12	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5193	PEX12	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5193	PEX12	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5194	PEX13	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5194	PEX13	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5194	PEX13	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5195	PEX14	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5195	PEX14	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5195	PEX14	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	5192	PEX10	ORPHA:772
HP:0000587	Abnormal optic nerve morphology	5192	PEX10	ORPHA:44
HP:0000587	Abnormal optic nerve morphology	5192	PEX10	ORPHA:912
HP:0000587	Abnormal optic nerve morphology	23636	NUP62	ORPHA:225154
HP:0000587	Abnormal optic nerve morphology	23636	NUP62	OMIM:271930
HP:0000587	Abnormal optic nerve morphology	103	ADAR	ORPHA:225154
HP:0000587	Abnormal optic nerve morphology	6389	SDHA	OMIM:619259
HP:0000587	Abnormal optic nerve morphology	6389	SDHA	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	6389	SDHA	OMIM:252011
HP:0000587	Abnormal optic nerve morphology	4668	NAGA	OMIM:609241
HP:0000587	Abnormal optic nerve morphology	4668	NAGA	ORPHA:79279
HP:0000587	Abnormal optic nerve morphology	131118	DNAJC19	ORPHA:66634
HP:0000587	Abnormal optic nerve morphology	131118	DNAJC19	OMIM:610198
HP:0000587	Abnormal optic nerve morphology	51594	NBAS	OMIM:614800
HP:0000587	Abnormal optic nerve morphology	11043	MID2	OMIM:300928
HP:0000587	Abnormal optic nerve morphology	2581	GALC	ORPHA:206436
HP:0000587	Abnormal optic nerve morphology	2581	GALC	OMIM:245200
HP:0000587	Abnormal optic nerve morphology	84233	TMEM126A	OMIM:612989
HP:0000587	Abnormal optic nerve morphology	9897	WASHC5	ORPHA:7
HP:0000587	Abnormal optic nerve morphology	28952	CCDC22	ORPHA:7
HP:0000587	Abnormal optic nerve morphology	1678	TIMM8A	ORPHA:52368
HP:0000587	Abnormal optic nerve morphology	129285	PPP1R21	OMIM:619383
HP:0000587	Abnormal optic nerve morphology	114034	TOE1	ORPHA:284339
HP:0000587	Abnormal optic nerve morphology	114034	TOE1	OMIM:614969
HP:0000587	Abnormal optic nerve morphology	4038	LRP4	ORPHA:3152
HP:0000587	Abnormal optic nerve morphology	1496	CTNNA2	OMIM:618174
HP:0000587	Abnormal optic nerve morphology	27445	PCLO	OMIM:608027
HP:0000587	Abnormal optic nerve morphology	1462	VCAN	OMIM:143200
HP:0000587	Abnormal optic nerve morphology	8398	PLA2G6	OMIM:610217
HP:0000587	Abnormal optic nerve morphology	8398	PLA2G6	ORPHA:35069
HP:0000587	Abnormal optic nerve morphology	8398	PLA2G6	OMIM:256600
HP:0000587	Abnormal optic nerve morphology	10134	BCAP31	OMIM:300475
HP:0000587	Abnormal optic nerve morphology	10134	BCAP31	ORPHA:369939
HP:0000587	Abnormal optic nerve morphology	23769	FLRT1	ORPHA:320406
HP:0000587	Abnormal optic nerve morphology	64837	KLC2	ORPHA:320406
HP:0000587	Abnormal optic nerve morphology	64837	KLC2	OMIM:609541
HP:0000587	Abnormal optic nerve morphology	4570	MT-TN	OMIM:220110
HP:0000587	Abnormal optic nerve morphology	6834	SURF1	OMIM:220110
HP:0000587	Abnormal optic nerve morphology	6834	SURF1	ORPHA:70474
HP:0000587	Abnormal optic nerve morphology	6834	SURF1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	25821	MTO1	OMIM:614702
HP:0000587	Abnormal optic nerve morphology	145173	B3GLCT	ORPHA:709
HP:0000587	Abnormal optic nerve morphology	2896	GRN	OMIM:614706
HP:0000587	Abnormal optic nerve morphology	80207	OPA3	OMIM:165300
HP:0000587	Abnormal optic nerve morphology	80207	OPA3	OMIM:258501
HP:0000587	Abnormal optic nerve morphology	80207	OPA3	ORPHA:67036
HP:0000587	Abnormal optic nerve morphology	4758	NEU1	ORPHA:93399
HP:0000587	Abnormal optic nerve morphology	4758	NEU1	ORPHA:93400
HP:0000587	Abnormal optic nerve morphology	79581	SLC52A2	OMIM:614707
HP:0000587	Abnormal optic nerve morphology	51218	GLRX5	ORPHA:401866
HP:0000587	Abnormal optic nerve morphology	51218	GLRX5	OMIM:616859
HP:0000587	Abnormal optic nerve morphology	374654	KIF7	OMIM:200990
HP:0000587	Abnormal optic nerve morphology	170302	ARX	OMIM:300004
HP:0000587	Abnormal optic nerve morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0000587	Abnormal optic nerve morphology	9640	ZNF592	ORPHA:83472
HP:0000587	Abnormal optic nerve morphology	1717	DHCR7	ORPHA:818
HP:0000587	Abnormal optic nerve morphology	2475	MTOR	ORPHA:99802
HP:0000587	Abnormal optic nerve morphology	10000	AKT3	ORPHA:99802
HP:0000587	Abnormal optic nerve morphology	271	AMPD2	OMIM:615809
HP:0000587	Abnormal optic nerve morphology	51204	TACO1	OMIM:619052
HP:0000587	Abnormal optic nerve morphology	51204	TACO1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	55037	PTCD3	OMIM:619057
HP:0000587	Abnormal optic nerve morphology	1757	SARDH	ORPHA:3129
HP:0000587	Abnormal optic nerve morphology	1716	DGUOK	ORPHA:329314
HP:0000587	Abnormal optic nerve morphology	55157	DARS2	ORPHA:137898
HP:0000587	Abnormal optic nerve morphology	686	BTD	OMIM:253260
HP:0000587	Abnormal optic nerve morphology	686	BTD	ORPHA:79241
HP:0000587	Abnormal optic nerve morphology	10367	MICU1	ORPHA:401768
HP:0000587	Abnormal optic nerve morphology	10367	MICU1	OMIM:615673
HP:0000587	Abnormal optic nerve morphology	9839	ZEB2	ORPHA:261552
HP:0000587	Abnormal optic nerve morphology	54476	RNF216	ORPHA:1173
HP:0000587	Abnormal optic nerve morphology	10908	PNPLA6	ORPHA:1173
HP:0000587	Abnormal optic nerve morphology	26090	ABHD12	OMIM:612674
HP:0000587	Abnormal optic nerve morphology	10382	TUBB4A	OMIM:612438
HP:0000587	Abnormal optic nerve morphology	84947	SERAC1	OMIM:614739
HP:0000587	Abnormal optic nerve morphology	1593	CYP27A1	ORPHA:909
HP:0000587	Abnormal optic nerve morphology	11340	EXOSC8	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	5393	EXOSC9	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	23287	AGTPBP1	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	51010	EXOSC3	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	7443	VRK1	ORPHA:2254
HP:0000587	Abnormal optic nerve morphology	3748	KCNC3	ORPHA:98768
HP:0000587	Abnormal optic nerve morphology	3748	KCNC3	OMIM:605259
HP:0000587	Abnormal optic nerve morphology	80025	PANK2	OMIM:234200
HP:0000587	Abnormal optic nerve morphology	80025	PANK2	ORPHA:216873
HP:0000587	Abnormal optic nerve morphology	8050	PDHX	OMIM:245349
HP:0000587	Abnormal optic nerve morphology	4256	MGP	ORPHA:85202
HP:0000587	Abnormal optic nerve morphology	63895	PIEZO2	ORPHA:1154
HP:0000587	Abnormal optic nerve morphology	25828	TXN2	OMIM:616811
HP:0000587	Abnormal optic nerve morphology	471	ATIC	OMIM:608688
HP:0000587	Abnormal optic nerve morphology	6742	SSBP1	OMIM:165510
HP:0000587	Abnormal optic nerve morphology	23065	EMC1	ORPHA:480898
HP:0000587	Abnormal optic nerve morphology	23065	EMC1	OMIM:616875
HP:0000587	Abnormal optic nerve morphology	6310	ATXN1	ORPHA:98755
HP:0000587	Abnormal optic nerve morphology	6310	ATXN1	OMIM:164400
HP:0000587	Abnormal optic nerve morphology	50484	RRM2B	OMIM:268315
HP:0000587	Abnormal optic nerve morphology	55275	VPS53	OMIM:615851
HP:0000587	Abnormal optic nerve morphology	50628	GEMIN4	OMIM:617913
HP:0000587	Abnormal optic nerve morphology	283989	TSEN54	OMIM:277470
HP:0000587	Abnormal optic nerve morphology	81846	SBF2	ORPHA:99956
HP:0000587	Abnormal optic nerve morphology	2776	GNAQ	ORPHA:3205
HP:0000587	Abnormal optic nerve morphology	92154	MTSS2	OMIM:620086
HP:0000587	Abnormal optic nerve morphology	28962	OSTM1	OMIM:259720
HP:0000587	Abnormal optic nerve morphology	23590	PDSS1	OMIM:614651
HP:0000587	Abnormal optic nerve morphology	79628	SH3TC2	ORPHA:99949
HP:0000587	Abnormal optic nerve morphology	57724	EPG5	ORPHA:1493
HP:0000587	Abnormal optic nerve morphology	9230	RAB11B	OMIM:617807
HP:0000587	Abnormal optic nerve morphology	2068	ERCC2	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	2068	ERCC2	ORPHA:1466
HP:0000587	Abnormal optic nerve morphology	2068	ERCC2	ORPHA:220295
HP:0000587	Abnormal optic nerve morphology	7507	XPA	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	7508	XPC	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	1643	DDB2	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	2073	ERCC5	ORPHA:910
HP:0000587	Abnormal optic nerve morphology	2073	ERCC5	ORPHA:1466
HP:0000587	Abnormal optic nerve morphology	2073	ERCC5	ORPHA:220295
HP:0000587	Abnormal optic nerve morphology	10075	HUWE1	OMIM:309590
HP:0000587	Abnormal optic nerve morphology	53616	ADAM22	OMIM:617933
HP:0000587	Abnormal optic nerve morphology	1806	DPYD	OMIM:274270
HP:0000587	Abnormal optic nerve morphology	998	CDC42	OMIM:616737
HP:0000587	Abnormal optic nerve morphology	998	CDC42	ORPHA:487796
HP:0000587	Abnormal optic nerve morphology	10413	YAP1	ORPHA:1473
HP:0000587	Abnormal optic nerve morphology	10560	SLC19A2	ORPHA:49827
HP:0000587	Abnormal optic nerve morphology	10560	SLC19A2	OMIM:249270
HP:0000587	Abnormal optic nerve morphology	6314	ATXN7	OMIM:164500
HP:0000587	Abnormal optic nerve morphology	10342	TFG	ORPHA:431329
HP:0000587	Abnormal optic nerve morphology	10342	TFG	OMIM:615658
HP:0000587	Abnormal optic nerve morphology	9512	PMPCB	OMIM:617954
HP:0000587	Abnormal optic nerve morphology	2067	ERCC1	ORPHA:1466
HP:0000587	Abnormal optic nerve morphology	10352	WARS2	OMIM:617710
HP:0000587	Abnormal optic nerve morphology	2058	EPRS1	OMIM:617951
HP:0000587	Abnormal optic nerve morphology	54974	THG1L	OMIM:618800
HP:0000587	Abnormal optic nerve morphology	5604	MAP2K1	ORPHA:1340
HP:0000587	Abnormal optic nerve morphology	3845	KRAS	ORPHA:1340
HP:0000587	Abnormal optic nerve morphology	259232	NALCN	OMIM:615419
HP:0000587	Abnormal optic nerve morphology	128989	TANGO2	ORPHA:480864
HP:0000587	Abnormal optic nerve morphology	128989	TANGO2	OMIM:616878
HP:0000587	Abnormal optic nerve morphology	64093	SMOC1	ORPHA:1106
HP:0000587	Abnormal optic nerve morphology	9420	CYP7B1	OMIM:270800
HP:0000587	Abnormal optic nerve morphology	57511	COG6	OMIM:614576
HP:0000587	Abnormal optic nerve morphology	128637	TBC1D20	OMIM:615663
HP:0000587	Abnormal optic nerve morphology	128637	TBC1D20	ORPHA:2510
HP:0000587	Abnormal optic nerve morphology	1729	DIAPH1	OMIM:616632
HP:0000587	Abnormal optic nerve morphology	57572	DOCK6	OMIM:614219
HP:0000587	Abnormal optic nerve morphology	64840	PORCN	OMIM:305600
HP:0000587	Abnormal optic nerve morphology	6197	RPS6KA3	ORPHA:192
HP:0000587	Abnormal optic nerve morphology	51501	HIKESHI	OMIM:616881
HP:0000587	Abnormal optic nerve morphology	25782	RAB3GAP2	OMIM:614225
HP:0000587	Abnormal optic nerve morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000587	Abnormal optic nerve morphology	22931	RAB18	OMIM:614222
HP:0000587	Abnormal optic nerve morphology	22931	RAB18	ORPHA:2510
HP:0000587	Abnormal optic nerve morphology	189	AGXT	OMIM:259900
HP:0000587	Abnormal optic nerve morphology	22934	RPIA	OMIM:608611
HP:0000587	Abnormal optic nerve morphology	25915	NDUFAF3	ORPHA:70474
HP:0000587	Abnormal optic nerve morphology	4714	NDUFB8	ORPHA:70474
HP:0000587	Abnormal optic nerve morphology	9997	SCO2	ORPHA:70474
HP:0000587	Abnormal optic nerve morphology	51124	IER3IP1	OMIM:614231
HP:0000587	Abnormal optic nerve morphology	51816	ADA2	OMIM:615688
HP:0000587	Abnormal optic nerve morphology	3832	KIF11	ORPHA:2526
HP:0000587	Abnormal optic nerve morphology	3832	KIF11	OMIM:152950
HP:0000587	Abnormal optic nerve morphology	55704	CCDC88A	OMIM:617507
HP:0000587	Abnormal optic nerve morphology	54676	GTPBP2	OMIM:617988
HP:0000587	Abnormal optic nerve morphology	5456	POU3F4	ORPHA:1435
HP:0000587	Abnormal optic nerve morphology	80704	SLC19A3	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4723	NDUFV1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	55967	NDUFA12	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4724	NDUFS4	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4728	NDUFS8	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	137682	NDUFAF6	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4722	NDUFS3	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	5160	PDHA1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	100131801	PET100	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	1355	COX15	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	1892	ECHS1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	374291	NDUFS7	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4705	NDUFA10	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	51601	LIPT1	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4695	NDUFA2	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4697	NDUFA4	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	4704	NDUFA9	ORPHA:255241
HP:0000587	Abnormal optic nerve morphology	5538	PPT1	OMIM:256730
HP:0000587	Abnormal optic nerve morphology	387	RHOA	OMIM:618727
HP:0000587	Abnormal optic nerve morphology	55315	SLC29A3	ORPHA:1782
HP:0000587	Abnormal optic nerve morphology	8777	MPDZ	OMIM:615219
HP:0000587	Abnormal optic nerve morphology	25974	MMACHC	ORPHA:79282
HP:0000587	Abnormal optic nerve morphology	85378	TUBGCP6	ORPHA:2518
HP:0000587	Abnormal optic nerve morphology	27229	TUBGCP4	ORPHA:2518
HP:0000587	Abnormal optic nerve morphology	57410	SCYL1	ORPHA:466794
HP:0000587	Abnormal optic nerve morphology	35	ACADS	ORPHA:26792
HP:0000587	Abnormal optic nerve morphology	80169	CTC1	OMIM:612199
HP:0000587	Abnormal optic nerve morphology	10844	TUBGCP2	OMIM:618737
HP:0000587	Abnormal optic nerve morphology	221927	BRAT1	OMIM:614498
HP:0000587	Abnormal optic nerve morphology	55753	OGDHL	OMIM:619701
HP:0000587	Abnormal optic nerve morphology	10939	AFG3L2	OMIM:618977
HP:0000587	Abnormal optic nerve morphology	5297	PI4KA	OMIM:619708
HP:0000587	Abnormal optic nerve morphology	50964	SOST	OMIM:269500
HP:0000587	Abnormal optic nerve morphology	50964	SOST	OMIM:122860
HP:0000587	Abnormal optic nerve morphology	7428	VHL	ORPHA:892
HP:0000587	Abnormal optic nerve morphology	595	CCND1	ORPHA:892
HP:0000587	Abnormal optic nerve morphology	2629	GBA1	ORPHA:2072
HP:0000587	Abnormal optic nerve morphology	3423	IDS	OMIM:309900
HP:0000587	Abnormal optic nerve morphology	3423	IDS	ORPHA:217085
HP:0000587	Abnormal optic nerve morphology	3423	IDS	ORPHA:217093
HP:0000587	Abnormal optic nerve morphology	3590	IL11RA	OMIM:614188
HP:0000587	Abnormal optic nerve morphology	7157	TP53	OMIM:260500
HP:0000587	Abnormal optic nerve morphology	8314	BAP1	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	4771	NF2	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	6598	SMARCB1	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	5155	PDGFB	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	84231	TRAF7	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	6608	SMO	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	207	AKT1	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	5290	PIK3CA	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	7015	TERT	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	51684	SUFU	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	6605	SMARCE1	ORPHA:2495
HP:0000587	Abnormal optic nerve morphology	63901	FAM111A	OMIM:127000
HP:0000587	Abnormal optic nerve morphology	63901	FAM111A	ORPHA:93325
HP:0000587	Abnormal optic nerve morphology	6522	SLC4A2	OMIM:620366
HP:0000587	Abnormal optic nerve morphology	4313	MMP2	ORPHA:371428
HP:0000587	Abnormal optic nerve morphology	4323	MMP14	ORPHA:371428
HP:0000587	Abnormal optic nerve morphology	7386	UQCRFS1	OMIM:618775
HP:0000587	Abnormal optic nerve morphology	5076	PAX2	ORPHA:1475
HP:0000587	Abnormal optic nerve morphology	5828	PEX2	OMIM:614866
HP:0000587	Abnormal optic nerve morphology	673	BRAF	OMIM:115150
HP:0000587	Abnormal optic nerve morphology	27151	CPAMD8	OMIM:617319
HP:0000587	Abnormal optic nerve morphology	57498	KIDINS220	OMIM:617296
HP:0000587	Abnormal optic nerve morphology	11041	B4GAT1	OMIM:615287
HP:0000587	Abnormal optic nerve morphology	5830	PEX5	OMIM:214110
HP:0000587	Abnormal optic nerve morphology	4514	MT-CO3	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4519	MT-CYB	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4541	MT-ND6	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4540	MT-ND5	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4508	MT-ATP6	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4539	MT-ND4L	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4535	MT-ND1	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4536	MT-ND2	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4538	MT-ND4	OMIM:535000
HP:0000587	Abnormal optic nerve morphology	4007	PRICKLE3	OMIM:308905
HP:0000587	Abnormal optic nerve morphology	1822	ATN1	ORPHA:101
HP:0000587	Abnormal optic nerve morphology	3949	LDLR	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	255738	PCSK9	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	26119	LDLRAP1	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	338	APOB	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	64240	ABCG5	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	64241	ABCG8	ORPHA:391665
HP:0000587	Abnormal optic nerve morphology	1181	CLCN2	OMIM:615651
HP:0000587	Abnormal optic nerve morphology	2811	GP1BA	OMIM:258660
HP:0000587	Abnormal optic nerve morphology	4854	NOTCH3	OMIM:125310
HP:0000587	Abnormal optic nerve morphology	57167	SALL4	ORPHA:233
HP:0000587	Abnormal optic nerve morphology	57167	SALL4	ORPHA:959
HP:0000587	Abnormal optic nerve morphology	57167	SALL4	OMIM:607323
HP:0000587	Abnormal optic nerve morphology	9935	MAFB	ORPHA:233
HP:0000587	Abnormal optic nerve morphology	1123	CHN1	ORPHA:233
HP:0000587	Abnormal optic nerve morphology	3192	HNRNPU	ORPHA:238769
HP:0000587	Abnormal optic nerve morphology	79644	SRD5A3	ORPHA:324737
HP:0000587	Abnormal optic nerve morphology	9342	SNAP29	OMIM:609528
HP:0000587	Abnormal optic nerve morphology	7025	NR2F1	ORPHA:401777
HP:0000587	Abnormal optic nerve morphology	324	APC	ORPHA:261584
HP:0000587	Abnormal optic nerve morphology	54802	TRIT1	OMIM:617873
HP:0000587	Abnormal optic nerve morphology	2187	FANCB	OMIM:300514
HP:0000587	Abnormal optic nerve morphology	55770	EXOC2	OMIM:619306
HP:0000587	Abnormal optic nerve morphology	5361	PLXNA1	OMIM:619955
HP:0000587	Abnormal optic nerve morphology	23259	DDHD2	ORPHA:320380
HP:0000587	Abnormal optic nerve morphology	9573	GDF3	OMIM:613703
HP:0000587	Abnormal optic nerve morphology	4784	NFIX	ORPHA:420179
HP:0000587	Abnormal optic nerve morphology	11128	POLR3A	ORPHA:3455
HP:0000587	Abnormal optic nerve morphology	415	ARSL	ORPHA:79345
HP:0000587	Abnormal optic nerve morphology	79639	TMEM53	OMIM:619727
HP:0000587	Abnormal optic nerve morphology	8792	TNFRSF11A	OMIM:612301
HP:0000587	Abnormal optic nerve morphology	84196	USP48	ORPHA:96253
HP:0000587	Abnormal optic nerve morphology	9101	USP8	ORPHA:96253
HP:0000587	Abnormal optic nerve morphology	64072	CDH23	ORPHA:96253
HP:0000587	Abnormal optic nerve morphology	2908	NR3C1	ORPHA:96253
HP:0000587	Abnormal optic nerve morphology	546	ATRX	ORPHA:96253
HP:0000587	Abnormal optic nerve morphology	7040	TGFB1	ORPHA:1328
HP:0000587	Abnormal optic nerve morphology	7040	TGFB1	OMIM:131300
HP:0000587	Abnormal optic nerve morphology	760	CA2	OMIM:259730
HP:0000587	Abnormal optic nerve morphology	29887	SNX10	ORPHA:667
HP:0000587	Abnormal optic nerve morphology	8600	TNFSF11	ORPHA:667
HP:0000587	Abnormal optic nerve morphology	10312	TCIRG1	ORPHA:210110
HP:0000587	Abnormal optic nerve morphology	1186	CLCN7	ORPHA:210110
HP:0000587	Abnormal optic nerve morphology	9842	PLEKHM1	ORPHA:210110
HP:0000587	Abnormal optic nerve morphology	84282	RNF135	ORPHA:137634
HP:0000587	Abnormal optic nerve morphology	5631	PRPS1	ORPHA:423479
HP:0000587	Abnormal optic nerve morphology	3000	GUCY2D	OMIM:204000
HP:0000587	Abnormal optic nerve morphology	26022	TMEM98	OMIM:615972
HP:0000587	Abnormal optic nerve morphology	9227	LRAT	ORPHA:364055
HP:0000587	Abnormal optic nerve morphology	55812	SPATA7	ORPHA:364055
HP:0000587	Abnormal optic nerve morphology	6121	RPE65	ORPHA:364055
HP:0000587	Abnormal optic nerve morphology	167691	LCA5	ORPHA:364055
HP:0000587	Abnormal optic nerve morphology	10594	PRPF8	OMIM:600059
HP:0000587	Abnormal optic nerve morphology	26160	IFT172	OMIM:616394
HP:0000587	Abnormal optic nerve morphology	64131	XYLT1	OMIM:264800
HP:0000587	Abnormal optic nerve morphology	64132	XYLT2	OMIM:264800
HP:0000587	Abnormal optic nerve morphology	368	ABCC6	OMIM:264800
HP:0000587	Abnormal optic nerve morphology	83552	MFRP	OMIM:611040
HP:0000587	Abnormal optic nerve morphology	4099	MAG	ORPHA:459056
HP:0000587	Abnormal optic nerve morphology	1798	DPAGT1	ORPHA:86309
HP:0000587	Abnormal optic nerve morphology	5080	PAX6	OMIM:165550
HP:0000587	Abnormal optic nerve morphology	5080	PAX6	OMIM:120200
HP:0000587	Abnormal optic nerve morphology	4990	SIX6	OMIM:206900
HP:0000587	Abnormal optic nerve morphology	6657	SOX2	OMIM:206900
HP:0000587	Abnormal optic nerve morphology	79848	CSPP1	ORPHA:397715
HP:0000587	Abnormal optic nerve morphology	9786	KIAA0586	ORPHA:397715
HP:0000587	Abnormal optic nerve morphology	22827	PUF60	ORPHA:508498
HP:0000587	Abnormal optic nerve morphology	3769	KCNJ13	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	343035	RD3	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	145226	RDH12	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	1406	CRX	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	64802	NMNAT1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	57096	RPGRIP1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	80184	CEP290	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	9742	IFT140	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	85015	USP45	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	23418	CRB1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	5130	PCYT1A	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	9657	IQCB1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	392255	GDF6	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	23746	AIPL1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	3614	IMPDH1	ORPHA:65
HP:0000587	Abnormal optic nerve morphology	5718	PSMD12	OMIM:617516
HP:0000587	Abnormal optic nerve morphology	4693	NDP	ORPHA:891
HP:0000587	Abnormal optic nerve morphology	1499	CTNNB1	ORPHA:891
HP:0000587	Abnormal optic nerve morphology	23554	TSPAN12	ORPHA:891
HP:0000587	Abnormal optic nerve morphology	4041	LRP5	ORPHA:891
HP:0000587	Abnormal optic nerve morphology	8322	FZD4	ORPHA:891
HP:0000587	Abnormal optic nerve morphology	22856	CHSY1	ORPHA:363417
HP:0000587	Abnormal optic nerve morphology	51112	TRAPPC12	ORPHA:500144
HP:0000587	Abnormal optic nerve morphology	2202	EFEMP1	ORPHA:98977
HP:0000587	Abnormal optic nerve morphology	1545	CYP1B1	ORPHA:98977
HP:0000587	Abnormal optic nerve morphology	4653	MYOC	ORPHA:98977
HP:0000587	Abnormal optic nerve morphology	7010	TEK	OMIM:617272
HP:0000587	Abnormal optic nerve morphology	1009	CDH11	OMIM:211380
HP:0000587	Abnormal optic nerve morphology	136371	ASB10	OMIM:603383
HP:0000587	Abnormal optic nerve morphology	1859	DYRK1A	ORPHA:268261
HP:0000587	Abnormal optic nerve morphology	10059	DNM1L	ORPHA:98673
HP:0000587	Abnormal optic nerve morphology	4976	OPA1	ORPHA:98673
HP:0000587	Abnormal optic nerve morphology	65062	TMEM237	OMIM:614424
HP:0000587	Abnormal optic nerve morphology	3166	HMX1	OMIM:612109
HP:0000587	Abnormal optic nerve morphology	146167	SLC38A8	OMIM:609218
HP:0000587	Abnormal optic nerve morphology	4157	MC1R	ORPHA:79432
HP:0000587	Abnormal optic nerve morphology	4948	OCA2	ORPHA:79432
HP:0000587	Abnormal optic nerve morphology	7306	TYRP1	ORPHA:79433
HP:0000587	Abnormal optic nerve morphology	51151	SLC45A2	ORPHA:79435
HP:0000587	Abnormal optic nerve morphology	3954	LETM1	OMIM:620089
HP:0000587	Abnormal optic nerve morphology	7345	UCHL1	OMIM:615491
HP:0000587	Abnormal optic nerve morphology	5950	RBP4	OMIM:616428
HP:0000587	Abnormal optic nerve morphology	8517	IKBKG	OMIM:301081
HP:0000587	Abnormal optic nerve morphology	7084	TK2	ORPHA:254886
HP:0000587	Abnormal optic nerve morphology	5428	POLG	ORPHA:254886
HP:0000587	Abnormal optic nerve morphology	51284	TLR7	OMIM:301080
HP:0000587	Abnormal optic nerve morphology	149233	IL23R	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	6775	STAT4	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	3586	IL10	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	4210	MEFV	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	1230	CCR1	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	355	FAS	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	3592	IL12A	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	3106	HLA-B	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	7099	TLR4	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	3459	IFNGR1	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	720	C4A	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	337867	UBAC2	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	51752	ERAP1	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	8302	KLRC4	ORPHA:117
HP:0000587	Abnormal optic nerve morphology	9692	PRORP	OMIM:619737
HP:0000587	Abnormal optic nerve morphology	64127	NOD2	ORPHA:90340
HP:0000587	Abnormal optic nerve morphology	5626	PROP1	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	2736	GLI2	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	89884	LHX4	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	89884	LHX4	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	3170	FOXA2	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	5449	POU1F1	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	8820	HESX1	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	8820	HESX1	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	8820	HESX1	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	5015	OTX2	ORPHA:95494
HP:0000587	Abnormal optic nerve morphology	5015	OTX2	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	10735	STAG2	OMIM:301043
HP:0000587	Abnormal optic nerve morphology	128674	PROKR2	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	128674	PROKR2	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	55717	WDR11	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	6091	ROBO1	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	50937	CDON	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	23432	GPR161	ORPHA:95496
HP:0000587	Abnormal optic nerve morphology	9578	CDC42BPB	OMIM:619841
HP:0000587	Abnormal optic nerve morphology	2260	FGFR1	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	6658	SOX3	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	9915	ARNT2	ORPHA:3157
HP:0000587	Abnormal optic nerve morphology	7473	WNT3	ORPHA:3301
HP:0000587	Abnormal optic nerve morphology	340419	RSPO2	ORPHA:3301
HP:0000587	Abnormal optic nerve morphology	6452	SH3BP2	OMIM:118400
HP:0000587	Abnormal optic nerve morphology	80781	COL18A1	OMIM:267750
HP:0000587	Abnormal optic nerve morphology	49855	SCAPER	OMIM:618195
HP:0000587	Abnormal optic nerve morphology	126792	B3GALT6	ORPHA:536467
HP:0000587	Abnormal optic nerve morphology	114902	C1QTNF5	ORPHA:67042
HP:0000587	Abnormal optic nerve morphology	7275	TUB	OMIM:616188
HP:0000587	Abnormal optic nerve morphology	55624	POMGNT1	OMIM:617123
HP:0000587	Abnormal optic nerve morphology	79797	ZNF408	OMIM:616469
HP:0000587	Abnormal optic nerve morphology	138050	HGSNAT	OMIM:616544
HP:0000587	Abnormal optic nerve morphology	4327	MMP19	OMIM:611543
HP:0000587	Abnormal optic nerve morphology	10383	TUBB4B	OMIM:617879
HP:0000587	Abnormal optic nerve morphology	1261	CNGA3	OMIM:216900
HP:0000587	Abnormal optic nerve morphology	7287	TULP1	OMIM:613843
HP:0000587	Abnormal optic nerve morphology	1282	COL4A1	OMIM:175780
HP:0000587	Abnormal optic nerve morphology	55975	KLHL7	OMIM:612943
HP:0000588	Optic disc coloboma	3476	IGBP1	OMIM:300472
HP:0000588	Optic disc coloboma	3476	IGBP1	ORPHA:52055
HP:0000588	Optic disc coloboma	5080	PAX6	ORPHA:35737
HP:0000588	Optic disc coloboma	5080	PAX6	OMIM:120430
HP:0000588	Optic disc coloboma	5080	PAX6	OMIM:120200
HP:0000588	Optic disc coloboma	4072	EPCAM	ORPHA:92050
HP:0000588	Optic disc coloboma	105371045	PERCC1	ORPHA:92050
HP:0000588	Optic disc coloboma	8260	NAA10	OMIM:309800
HP:0000588	Optic disc coloboma	8260	NAA10	ORPHA:568
HP:0000588	Optic disc coloboma	54880	BCOR	OMIM:309800
HP:0000588	Optic disc coloboma	54880	BCOR	ORPHA:568
HP:0000588	Optic disc coloboma	54496	PRMT7	OMIM:617157
HP:0000588	Optic disc coloboma	1663	DDX11	OMIM:613398
HP:0000588	Optic disc coloboma	25836	NIPBL	OMIM:122470
HP:0000588	Optic disc coloboma	51259	TMEM216	OMIM:608091
HP:0000588	Optic disc coloboma	55733	HHAT	OMIM:600092
HP:0000588	Optic disc coloboma	56623	INPP5E	OMIM:213300
HP:0000588	Optic disc coloboma	56623	INPP5E	ORPHA:1454
HP:0000588	Optic disc coloboma	8085	KMT2D	OMIM:620186
HP:0000588	Optic disc coloboma	5076	PAX2	OMIM:120330
HP:0000588	Optic disc coloboma	5076	PAX2	ORPHA:1475
HP:0000588	Optic disc coloboma	71	ACTG1	ORPHA:2995
HP:0000588	Optic disc coloboma	60	ACTB	ORPHA:2995
HP:0000588	Optic disc coloboma	10653	SPINT2	OMIM:270420
HP:0000588	Optic disc coloboma	8295	TRRAP	OMIM:618454
HP:0000588	Optic disc coloboma	91147	TMEM67	ORPHA:1454
HP:0000588	Optic disc coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000588	Optic disc coloboma	57545	CC2D2A	ORPHA:1454
HP:0000588	Optic disc coloboma	6608	SMO	ORPHA:1553
HP:0000588	Optic disc coloboma	83479	DDX59	OMIM:174300
HP:0000588	Optic disc coloboma	57167	SALL4	ORPHA:959
HP:0000588	Optic disc coloboma	26005	C2CD3	OMIM:615948
HP:0000588	Optic disc coloboma	6297	SALL2	OMIM:216820
HP:0000589	Coloboma	22827	PUF60	ORPHA:508498
HP:0000589	Coloboma	22827	PUF60	ORPHA:508488
HP:0000589	Coloboma	4123	MAN2C1	OMIM:619775
HP:0000589	Coloboma	9158	FIBP	ORPHA:500095
HP:0000589	Coloboma	9158	FIBP	OMIM:617107
HP:0000589	Coloboma	145173	B3GLCT	OMIM:261540
HP:0000589	Coloboma	26005	C2CD3	ORPHA:434179
HP:0000589	Coloboma	26005	C2CD3	OMIM:615948
HP:0000589	Coloboma	9786	KIAA0586	OMIM:616546
HP:0000589	Coloboma	220	ALDH1A3	OMIM:615113
HP:0000589	Coloboma	9487	PIGL	OMIM:280000
HP:0000589	Coloboma	9487	PIGL	ORPHA:3474
HP:0000589	Coloboma	8573	CASK	OMIM:300749
HP:0000589	Coloboma	80184	CEP290	OMIM:610188
HP:0000589	Coloboma	2248	FGF3	ORPHA:2791
HP:0000589	Coloboma	3166	HMX1	OMIM:612109
HP:0000589	Coloboma	57167	SALL4	OMIM:607323
HP:0000589	Coloboma	22930	RAB3GAP1	ORPHA:2510
HP:0000589	Coloboma	25782	RAB3GAP2	ORPHA:2510
HP:0000589	Coloboma	22931	RAB18	ORPHA:2510
HP:0000589	Coloboma	128637	TBC1D20	ORPHA:2510
HP:0000589	Coloboma	5076	PAX2	OMIM:120330
HP:0000589	Coloboma	5076	PAX2	ORPHA:1475
HP:0000589	Coloboma	9839	ZEB2	ORPHA:261537
HP:0000589	Coloboma	9839	ZEB2	ORPHA:261552
HP:0000589	Coloboma	7020	TFAP2A	OMIM:113620
HP:0000589	Coloboma	26173	INTS1	OMIM:618571
HP:0000589	Coloboma	54806	AHI1	ORPHA:220493
HP:0000589	Coloboma	56623	INPP5E	ORPHA:220493
HP:0000589	Coloboma	153241	CEP120	ORPHA:220493
HP:0000589	Coloboma	54903	MKS1	ORPHA:220493
HP:0000589	Coloboma	95681	CEP41	ORPHA:220493
HP:0000589	Coloboma	55636	CHD7	OMIM:214800
HP:0000589	Coloboma	6297	SALL2	OMIM:216820
HP:0000589	Coloboma	5728	PTEN	ORPHA:744
HP:0000589	Coloboma	207	AKT1	ORPHA:744
HP:0000589	Coloboma	79759	ZNF668	OMIM:620194
HP:0000589	Coloboma	51322	WAC	ORPHA:284169
HP:0000589	Coloboma	57020	VPS35L	OMIM:619135
HP:0000589	Coloboma	149461	CLDN19	ORPHA:2196
HP:0000589	Coloboma	55733	HHAT	ORPHA:1422
HP:0000589	Coloboma	4072	EPCAM	ORPHA:92050
HP:0000589	Coloboma	105371045	PERCC1	ORPHA:92050
HP:0000589	Coloboma	1663	DDX11	OMIM:613398
HP:0000589	Coloboma	25836	NIPBL	OMIM:122470
HP:0000589	Coloboma	10653	SPINT2	OMIM:270420
HP:0000589	Coloboma	8295	TRRAP	OMIM:618454
HP:0000589	Coloboma	83479	DDX59	OMIM:174300
HP:0000589	Coloboma	83483	PLVAP	OMIM:618183
HP:0000589	Coloboma	392255	GDF6	OMIM:613094
HP:0000589	Coloboma	392255	GDF6	OMIM:613703
HP:0000589	Coloboma	55773	TBC1D23	OMIM:617695
HP:0000589	Coloboma	1387	CREBBP	OMIM:180849
HP:0000589	Coloboma	1387	CREBBP	ORPHA:353281
HP:0000589	Coloboma	1387	CREBBP	ORPHA:353277
HP:0000589	Coloboma	2033	EP300	OMIM:180849
HP:0000589	Coloboma	2033	EP300	ORPHA:353284
HP:0000589	Coloboma	5080	PAX6	ORPHA:2334
HP:0000589	Coloboma	23314	SATB2	ORPHA:251028
HP:0000589	Coloboma	10586	MAB21L2	OMIM:615877
HP:0000589	Coloboma	6650	CAPN15	OMIM:619318
HP:0000589	Coloboma	23384	SPECC1L	OMIM:600251
HP:0000589	Coloboma	3190	HNRNPK	ORPHA:453504
HP:0000589	Coloboma	3190	HNRNPK	ORPHA:352665
HP:0000589	Coloboma	29925	GMPPB	ORPHA:370959
HP:0000589	Coloboma	374654	KIF7	OMIM:200990
HP:0000589	Coloboma	5130	PCYT1A	ORPHA:85167
HP:0000589	Coloboma	1806	DPYD	OMIM:274270
HP:0000589	Coloboma	7403	KDM6A	ORPHA:2322
HP:0000589	Coloboma	4286	MITF	OMIM:617306
HP:0000589	Coloboma	10084	PQBP1	OMIM:309500
HP:0000589	Coloboma	79989	IFT56	OMIM:619534
HP:0000589	Coloboma	5015	OTX2	OMIM:610125
HP:0000589	Coloboma	23389	MED13L	OMIM:616789
HP:0000589	Coloboma	157570	ESCO2	OMIM:268300
HP:0000589	Coloboma	171023	ASXL1	ORPHA:97297
HP:0000589	Coloboma	22884	WDR37	OMIM:618652
HP:0000589	Coloboma	8665	EIF3F	OMIM:618295
HP:0000589	Coloboma	5147	PDE6D	OMIM:615665
HP:0000589	Coloboma	57178	ZMIZ1	OMIM:618659
HP:0000589	Coloboma	55690	PACS1	ORPHA:329224
HP:0000589	Coloboma	2301	FOXE3	OMIM:610256
HP:0000589	Coloboma	10716	TBR1	ORPHA:1617
HP:0000589	Coloboma	54496	PRMT7	ORPHA:464288
HP:0000589	Coloboma	3476	IGBP1	OMIM:300472
HP:0000589	Coloboma	3476	IGBP1	ORPHA:52055
HP:0000589	Coloboma	1409	CRYAA	OMIM:604219
HP:0000589	Coloboma	1409	CRYAA	ORPHA:1377
HP:0000589	Coloboma	23394	ADNP	ORPHA:404448
HP:0000589	Coloboma	1859	DYRK1A	ORPHA:268261
HP:0000589	Coloboma	406987	MIR204	OMIM:616722
HP:0000589	Coloboma	3265	HRAS	ORPHA:2612
HP:0000589	Coloboma	3845	KRAS	ORPHA:2612
HP:0000589	Coloboma	3845	KRAS	ORPHA:2396
HP:0000589	Coloboma	4893	NRAS	ORPHA:2612
HP:0000589	Coloboma	2260	FGFR1	OMIM:147950
HP:0000589	Coloboma	2260	FGFR1	ORPHA:280200
HP:0000589	Coloboma	2260	FGFR1	ORPHA:2396
HP:0000589	Coloboma	4919	ROR1	OMIM:617654
HP:0000589	Coloboma	7473	WNT3	ORPHA:3301
HP:0000589	Coloboma	340419	RSPO2	ORPHA:3301
HP:0000589	Coloboma	23126	POGZ	ORPHA:468678
HP:0000589	Coloboma	23126	POGZ	OMIM:616364
HP:0000589	Coloboma	2316	FLNA	OMIM:300244
HP:0000589	Coloboma	2316	FLNA	ORPHA:88630
HP:0000589	Coloboma	116931	MED12L	OMIM:618872
HP:0000589	Coloboma	26610	ELP4	OMIM:617141
HP:0000589	Coloboma	64412	GZF1	OMIM:617662
HP:0000589	Coloboma	23322	RPGRIP1L	ORPHA:220497
HP:0000589	Coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000589	Coloboma	4867	NPHP1	ORPHA:220497
HP:0000589	Coloboma	65062	TMEM237	ORPHA:220497
HP:0000589	Coloboma	65062	TMEM237	ORPHA:2318
HP:0000589	Coloboma	65062	TMEM237	ORPHA:475
HP:0000589	Coloboma	10413	YAP1	ORPHA:1473
HP:0000589	Coloboma	10413	YAP1	OMIM:120433
HP:0000589	Coloboma	3149	HMGB3	OMIM:300915
HP:0000589	Coloboma	1717	DHCR7	ORPHA:818
HP:0000589	Coloboma	26128	KIFBP	ORPHA:66629
HP:0000589	Coloboma	9723	SEMA3E	ORPHA:138
HP:0000589	Coloboma	84892	POMGNT2	ORPHA:899
HP:0000589	Coloboma	148789	B3GALNT2	ORPHA:899
HP:0000589	Coloboma	79147	FKRP	ORPHA:899
HP:0000589	Coloboma	29954	POMT2	ORPHA:899
HP:0000589	Coloboma	9215	LARGE1	ORPHA:899
HP:0000589	Coloboma	1282	COL4A1	ORPHA:899
HP:0000589	Coloboma	729920	CRPPA	ORPHA:899
HP:0000589	Coloboma	10329	RXYLT1	ORPHA:899
HP:0000589	Coloboma	1605	DAG1	ORPHA:899
HP:0000589	Coloboma	11041	B4GAT1	ORPHA:899
HP:0000589	Coloboma	10585	POMT1	ORPHA:899
HP:0000589	Coloboma	84197	POMK	ORPHA:899
HP:0000589	Coloboma	2218	FKTN	ORPHA:899
HP:0000589	Coloboma	55624	POMGNT1	ORPHA:899
HP:0000589	Coloboma	28514	DLL1	ORPHA:280200
HP:0000589	Coloboma	2253	FGF8	ORPHA:280200
HP:0000589	Coloboma	6496	SIX3	ORPHA:280200
HP:0000589	Coloboma	6496	SIX3	OMIM:157170
HP:0000589	Coloboma	7050	TGIF1	ORPHA:280200
HP:0000589	Coloboma	4838	NODAL	ORPHA:280200
HP:0000589	Coloboma	6469	SHH	ORPHA:280200
HP:0000589	Coloboma	6469	SHH	OMIM:611638
HP:0000589	Coloboma	51684	SUFU	ORPHA:280200
HP:0000589	Coloboma	51684	SUFU	ORPHA:475
HP:0000589	Coloboma	51684	SUFU	ORPHA:377
HP:0000589	Coloboma	7546	ZIC2	ORPHA:280200
HP:0000589	Coloboma	2619	GAS1	ORPHA:280200
HP:0000589	Coloboma	84976	DISP1	ORPHA:280200
HP:0000589	Coloboma	2736	GLI2	ORPHA:280200
HP:0000589	Coloboma	8928	FOXH1	ORPHA:280200
HP:0000589	Coloboma	5727	PTCH1	ORPHA:280200
HP:0000589	Coloboma	5727	PTCH1	OMIM:109400
HP:0000589	Coloboma	5727	PTCH1	OMIM:610828
HP:0000589	Coloboma	5727	PTCH1	ORPHA:377
HP:0000589	Coloboma	50937	CDON	ORPHA:280200
HP:0000589	Coloboma	6657	SOX2	ORPHA:77298
HP:0000589	Coloboma	473	RERE	ORPHA:494344
HP:0000589	Coloboma	220202	ATOH7	OMIM:221900
HP:0000589	Coloboma	54880	BCOR	ORPHA:2712
HP:0000589	Coloboma	54880	BCOR	ORPHA:568
HP:0000589	Coloboma	54880	BCOR	OMIM:309800
HP:0000589	Coloboma	54880	BCOR	OMIM:300166
HP:0000589	Coloboma	5925	RB1	ORPHA:1587
HP:0000589	Coloboma	4853	NOTCH2	OMIM:102500
HP:0000589	Coloboma	4853	NOTCH2	ORPHA:955
HP:0000589	Coloboma	1063	CENPF	OMIM:243605
HP:0000589	Coloboma	2263	FGFR2	ORPHA:207
HP:0000589	Coloboma	2077	ERF	ORPHA:207
HP:0000589	Coloboma	79583	TMEM231	ORPHA:2318
HP:0000589	Coloboma	51524	TMEM138	ORPHA:2318
HP:0000589	Coloboma	23090	ZNF423	ORPHA:2318
HP:0000589	Coloboma	51259	TMEM216	ORPHA:2318
HP:0000589	Coloboma	57545	CC2D2A	ORPHA:2318
HP:0000589	Coloboma	57545	CC2D2A	ORPHA:1454
HP:0000589	Coloboma	8260	NAA10	ORPHA:568
HP:0000589	Coloboma	8260	NAA10	OMIM:309800
HP:0000589	Coloboma	4313	MMP2	ORPHA:371428
HP:0000589	Coloboma	4323	MMP14	ORPHA:371428
HP:0000589	Coloboma	10815	CPLX1	ORPHA:280
HP:0000589	Coloboma	10815	CPLX1	OMIM:194190
HP:0000589	Coloboma	54872	PIGG	ORPHA:280
HP:0000589	Coloboma	7469	NELFA	ORPHA:280
HP:0000589	Coloboma	1487	CTBP1	ORPHA:280
HP:0000589	Coloboma	1487	CTBP1	OMIM:194190
HP:0000589	Coloboma	3954	LETM1	ORPHA:280
HP:0000589	Coloboma	3954	LETM1	OMIM:194190
HP:0000589	Coloboma	7468	NSD2	ORPHA:280
HP:0000589	Coloboma	7468	NSD2	OMIM:194190
HP:0000589	Coloboma	338917	VSX2	OMIM:610092
HP:0000589	Coloboma	55714	TENM3	OMIM:615145
HP:0000589	Coloboma	523	ATP6V1A	OMIM:618012
HP:0000589	Coloboma	4854	NOTCH3	ORPHA:2789
HP:0000589	Coloboma	91147	TMEM67	ORPHA:1454
HP:0000589	Coloboma	91147	TMEM67	ORPHA:475
HP:0000589	Coloboma	4591	TRIM37	OMIM:253250
HP:0000589	Coloboma	5950	RBP4	OMIM:615147
HP:0000589	Coloboma	5950	RBP4	OMIM:616428
HP:0000589	Coloboma	4036	LRP2	ORPHA:2143
HP:0000589	Coloboma	4036	LRP2	OMIM:222448
HP:0000589	Coloboma	25942	SIN3A	OMIM:613406
HP:0000589	Coloboma	79644	SRD5A3	OMIM:612713
HP:0000589	Coloboma	53834	FGFRL1	OMIM:194190
HP:0000589	Coloboma	2313	FLI1	ORPHA:2308
HP:0000589	Coloboma	60	ACTB	OMIM:243310
HP:0000589	Coloboma	60	ACTB	ORPHA:2995
HP:0000589	Coloboma	9935	MAFB	ORPHA:233
HP:0000589	Coloboma	1123	CHN1	ORPHA:233
HP:0000589	Coloboma	79600	TCTN1	ORPHA:475
HP:0000589	Coloboma	79848	CSPP1	ORPHA:475
HP:0000589	Coloboma	65250	CPLANE1	ORPHA:475
HP:0000589	Coloboma	200894	ARL13B	ORPHA:475
HP:0000589	Coloboma	9731	CEP104	ORPHA:475
HP:0000589	Coloboma	219844	HYLS1	ORPHA:475
HP:0000589	Coloboma	23247	KATNIP	ORPHA:475
HP:0000589	Coloboma	219854	TMEM218	ORPHA:475
HP:0000589	Coloboma	79867	TCTN2	ORPHA:475
HP:0000589	Coloboma	80776	B9D2	ORPHA:475
HP:0000589	Coloboma	10464	PIBF1	ORPHA:475
HP:0000589	Coloboma	80210	ARMC9	ORPHA:475
HP:0000589	Coloboma	23116	TOGARAM1	ORPHA:475
HP:0000589	Coloboma	25776	CBY1	ORPHA:475
HP:0000589	Coloboma	27077	B9D1	ORPHA:475
HP:0000589	Coloboma	403	ARL3	ORPHA:475
HP:0000589	Coloboma	64840	PORCN	OMIM:305600
HP:0000589	Coloboma	64840	PORCN	ORPHA:2092
HP:0000589	Coloboma	23347	SMCHD1	ORPHA:2250
HP:0000589	Coloboma	157680	VPS13B	ORPHA:193
HP:0000589	Coloboma	6608	SMO	OMIM:601707
HP:0000589	Coloboma	6608	SMO	ORPHA:1553
HP:0000589	Coloboma	1349	COX7B	OMIM:309801
HP:0000589	Coloboma	3052	HCCS	OMIM:309801
HP:0000589	Coloboma	54539	NDUFB11	OMIM:309801
HP:0000589	Coloboma	6711	SPTBN1	OMIM:619475
HP:0000589	Coloboma	10908	PNPLA6	ORPHA:2377
HP:0000589	Coloboma	286	ANK1	ORPHA:251066
HP:0000589	Coloboma	29926	GMPPA	ORPHA:869
HP:0000589	Coloboma	60684	TRAPPC11	ORPHA:869
HP:0000589	Coloboma	8086	AAAS	ORPHA:869
HP:0000589	Coloboma	8085	KMT2D	OMIM:620186
HP:0000589	Coloboma	85365	ALG2	ORPHA:79326
HP:0000589	Coloboma	85365	ALG2	OMIM:607906
HP:0000589	Coloboma	284252	KCTD1	OMIM:181270
HP:0000589	Coloboma	84172	POLR1B	ORPHA:861
HP:0000589	Coloboma	9533	POLR1C	ORPHA:861
HP:0000589	Coloboma	51082	POLR1D	ORPHA:861
HP:0000589	Coloboma	6949	TCOF1	ORPHA:861
HP:0000589	Coloboma	6299	SALL1	ORPHA:857
HP:0000589	Coloboma	51339	DACT1	ORPHA:857
HP:0000589	Coloboma	9573	GDF3	OMIM:613702
HP:0000589	Coloboma	9338	TCEAL1	OMIM:301094
HP:0000589	Coloboma	113246	C12orf57	OMIM:218340
HP:0000589	Coloboma	7837	PXDN	OMIM:269400
HP:0000589	Coloboma	8643	PTCH2	ORPHA:377
HP:0000589	Coloboma	652	BMP4	ORPHA:139471
HP:0000589	Coloboma	51360	MBTPS2	ORPHA:85284
HP:0000589	Coloboma	57479	PRR12	OMIM:619539
HP:0000589	Coloboma	8777	MPDZ	OMIM:615219
HP:0000589	Coloboma	4094	MAF	OMIM:610202
HP:0000589	Coloboma	4094	MAF	ORPHA:1377
HP:0000589	Coloboma	4990	SIX6	OMIM:212550
HP:0000589	Coloboma	71	ACTG1	ORPHA:2995
HP:0000589	Coloboma	50945	TBX22	ORPHA:921
HP:0000589	Coloboma	2776	GNAQ	ORPHA:3205
HP:0000589	Coloboma	9897	WASHC5	ORPHA:7
HP:0000589	Coloboma	28952	CCDC22	ORPHA:7
HP:0000589	Coloboma	10195	ALG3	OMIM:601110
HP:0000589	Coloboma	257	ALX3	ORPHA:391474
HP:0000589	Coloboma	2703	GJA8	ORPHA:1377
HP:0000589	Coloboma	1413	CRYBA4	ORPHA:1377
HP:0000589	Coloboma	1415	CRYBB2	ORPHA:1377
HP:0000589	Coloboma	1414	CRYBB1	ORPHA:1377
HP:0000589	Coloboma	1420	CRYGC	ORPHA:1377
HP:0000589	Coloboma	1421	CRYGD	ORPHA:1377
HP:0000589	Coloboma	10058	ABCB6	OMIM:614497
HP:0000589	Coloboma	64802	NMNAT1	OMIM:619260
HP:0000589	Coloboma	64802	NMNAT1	OMIM:608553
HP:0000589	Coloboma	5631	PRPS1	ORPHA:423479
HP:0000589	Coloboma	9227	LRAT	ORPHA:364055
HP:0000589	Coloboma	55812	SPATA7	ORPHA:364055
HP:0000589	Coloboma	6121	RPE65	ORPHA:364055
HP:0000589	Coloboma	167691	LCA5	ORPHA:364055
HP:0000589	Coloboma	9785	DHX38	OMIM:618220
HP:0000589	Coloboma	25974	MMACHC	ORPHA:79282
HP:0000589	Coloboma	23418	CRB1	OMIM:613835
HP:0000589	Coloboma	23291	FBXW11	OMIM:618914
HP:0033601	Glomerular subepithelial immune-complex deposits	57728	WDR19	OMIM:614377
HP:0033601	Glomerular subepithelial immune-complex deposits	57728	WDR19	OMIM:616307
HP:0033603	Glomerular subepithelial deposits	3075	CFH	OMIM:609814
HP:0033603	Glomerular subepithelial deposits	100147744	RNU7-1	OMIM:619487
HP:0033603	Glomerular subepithelial deposits	9722	NOS1AP	OMIM:619155
HP:0033603	Glomerular subepithelial deposits	4010	LMX1B	ORPHA:2614
HP:0033603	Glomerular subepithelial deposits	2625	GATA3	OMIM:146255
HP:0033603	Glomerular subepithelial deposits	51134	CEP83	OMIM:615862
HP:0033603	Glomerular subepithelial deposits	8526	DGKE	OMIM:615008
HP:0033603	Glomerular subepithelial deposits	396	ARHGDIA	OMIM:615244
HP:0033603	Glomerular subepithelial deposits	1285	COL4A3	OMIM:203780
HP:0033603	Glomerular subepithelial deposits	1285	COL4A3	OMIM:104200
HP:0033603	Glomerular subepithelial deposits	1286	COL4A4	OMIM:203780
HP:0033603	Glomerular subepithelial deposits	1287	COL4A5	OMIM:301050
HP:0033603	Glomerular subepithelial deposits	977	CD151	OMIM:609057
HP:0033603	Glomerular subepithelial deposits	57728	WDR19	OMIM:614377
HP:0033603	Glomerular subepithelial deposits	57728	WDR19	OMIM:616307
HP:0033605	Pustular rash	6850	SYK	OMIM:619381
HP:0033605	Pustular rash	340061	STING1	OMIM:615934
HP:0033605	Pustular rash	23765	IL17RA	OMIM:613953
HP:0000591	Abnormal sclera morphology	64132	XYLT2	OMIM:605822
HP:0000591	Abnormal sclera morphology	121340	SP7	OMIM:613849
HP:0000591	Abnormal sclera morphology	1188	CLCNKB	OMIM:607364
HP:0000591	Abnormal sclera morphology	9871	SEC24D	ORPHA:2050
HP:0000591	Abnormal sclera morphology	9871	SEC24D	OMIM:616294
HP:0000591	Abnormal sclera morphology	5034	P4HB	ORPHA:2050
HP:0000591	Abnormal sclera morphology	5351	PLOD1	OMIM:225400
HP:0000591	Abnormal sclera morphology	5351	PLOD1	ORPHA:1900
HP:0000591	Abnormal sclera morphology	4598	MVK	ORPHA:29
HP:0000591	Abnormal sclera morphology	4598	MVK	OMIM:610377
HP:0000591	Abnormal sclera morphology	22856	CHSY1	ORPHA:363417
HP:0000591	Abnormal sclera morphology	22856	CHSY1	OMIM:605282
HP:0000591	Abnormal sclera morphology	84627	ZNF469	OMIM:229200
HP:0000591	Abnormal sclera morphology	84627	ZNF469	ORPHA:90354
HP:0000591	Abnormal sclera morphology	26128	KIFBP	OMIM:609460
HP:0000591	Abnormal sclera morphology	6228	RPS23	OMIM:617412
HP:0000591	Abnormal sclera morphology	6885	MAP3K7	OMIM:617137
HP:0000591	Abnormal sclera morphology	6885	MAP3K7	OMIM:157800
HP:0000591	Abnormal sclera morphology	23028	KDM1A	OMIM:616728
HP:0000591	Abnormal sclera morphology	23028	KDM1A	ORPHA:477993
HP:0000591	Abnormal sclera morphology	1277	COL1A1	OMIM:259420
HP:0000591	Abnormal sclera morphology	1277	COL1A1	OMIM:166210
HP:0000591	Abnormal sclera morphology	1277	COL1A1	OMIM:166220
HP:0000591	Abnormal sclera morphology	1277	COL1A1	OMIM:619115
HP:0000591	Abnormal sclera morphology	1277	COL1A1	OMIM:166200
HP:0000591	Abnormal sclera morphology	1278	COL1A2	OMIM:259420
HP:0000591	Abnormal sclera morphology	1278	COL1A2	OMIM:166210
HP:0000591	Abnormal sclera morphology	1278	COL1A2	OMIM:166220
HP:0000591	Abnormal sclera morphology	1278	COL1A2	OMIM:619120
HP:0000591	Abnormal sclera morphology	2200	FBN1	ORPHA:284979
HP:0000591	Abnormal sclera morphology	249	ALPL	OMIM:241500
HP:0000591	Abnormal sclera morphology	51741	WWOX	OMIM:616211
HP:0000591	Abnormal sclera morphology	9442	MED27	OMIM:619286
HP:0000591	Abnormal sclera morphology	8085	KMT2D	ORPHA:2322
HP:0000591	Abnormal sclera morphology	8085	KMT2D	OMIM:147920
HP:0000591	Abnormal sclera morphology	7403	KDM6A	ORPHA:2322
HP:0000591	Abnormal sclera morphology	7403	KDM6A	OMIM:300867
HP:0000591	Abnormal sclera morphology	7403	KDM6A	OMIM:147920
HP:0000591	Abnormal sclera morphology	5831	PYCR1	OMIM:614438
HP:0000591	Abnormal sclera morphology	5831	PYCR1	OMIM:612940
HP:0000591	Abnormal sclera morphology	55033	FKBP14	OMIM:614557
HP:0000591	Abnormal sclera morphology	1289	COL5A1	OMIM:619329
HP:0000591	Abnormal sclera morphology	1289	COL5A1	OMIM:130000
HP:0000591	Abnormal sclera morphology	4297	KMT2A	OMIM:605130
HP:0000591	Abnormal sclera morphology	4784	NFIX	OMIM:602535
HP:0000591	Abnormal sclera morphology	4784	NFIX	ORPHA:561
HP:0000591	Abnormal sclera morphology	6023	RMRP	ORPHA:175
HP:0000591	Abnormal sclera morphology	113189	CHST14	ORPHA:2953
HP:0000591	Abnormal sclera morphology	113189	CHST14	OMIM:601776
HP:0000591	Abnormal sclera morphology	29940	DSE	ORPHA:2953
HP:0000591	Abnormal sclera morphology	29940	DSE	OMIM:615539
HP:0000591	Abnormal sclera morphology	55603	TENT5A	OMIM:617952
HP:0000591	Abnormal sclera morphology	23184	MESD	OMIM:618644
HP:0000591	Abnormal sclera morphology	90993	CREB3L1	OMIM:616229
HP:0000591	Abnormal sclera morphology	64131	XYLT1	OMIM:615777
HP:0000591	Abnormal sclera morphology	64131	XYLT1	ORPHA:1425
HP:0000591	Abnormal sclera morphology	64359	NXN	ORPHA:1507
HP:0000591	Abnormal sclera morphology	4920	ROR2	ORPHA:1507
HP:0000591	Abnormal sclera morphology	3481	IGF2	OMIM:180860
HP:0000591	Abnormal sclera morphology	83480	PUS3	ORPHA:488627
HP:0000591	Abnormal sclera morphology	83480	PUS3	OMIM:617051
HP:0000591	Abnormal sclera morphology	1281	COL3A1	ORPHA:286
HP:0000591	Abnormal sclera morphology	9509	ADAMTS2	OMIM:225410
HP:0000591	Abnormal sclera morphology	11107	PRDM5	OMIM:614170
HP:0000591	Abnormal sclera morphology	11107	PRDM5	ORPHA:90354
HP:0000591	Abnormal sclera morphology	5442	POLRMT	OMIM:619743
HP:0000591	Abnormal sclera morphology	4041	LRP5	ORPHA:2788
HP:0000591	Abnormal sclera morphology	23545	ATP6V0A2	OMIM:278250
HP:0000591	Abnormal sclera morphology	1954	MEGF8	OMIM:614976
HP:0000591	Abnormal sclera morphology	649	BMP1	OMIM:614856
HP:0000591	Abnormal sclera morphology	2783	GNB2	OMIM:619503
HP:0000591	Abnormal sclera morphology	54496	PRMT7	ORPHA:464288
HP:0000591	Abnormal sclera morphology	760	CA2	ORPHA:2785
HP:0000591	Abnormal sclera morphology	11285	B4GALT7	OMIM:130070
HP:0000591	Abnormal sclera morphology	10526	IPO8	OMIM:619472
HP:0000591	Abnormal sclera morphology	10526	IPO8	ORPHA:60030
HP:0000591	Abnormal sclera morphology	1857	DVL3	ORPHA:3107
HP:0000591	Abnormal sclera morphology	1857	DVL3	OMIM:616894
HP:0000591	Abnormal sclera morphology	7474	WNT5A	ORPHA:3107
HP:0000591	Abnormal sclera morphology	1855	DVL1	ORPHA:3107
HP:0000591	Abnormal sclera morphology	2535	FZD2	ORPHA:3107
HP:0000591	Abnormal sclera morphology	5593	PRKG2	OMIM:619638
HP:0000591	Abnormal sclera morphology	23233	EXOC6B	ORPHA:93359
HP:0000591	Abnormal sclera morphology	126792	B3GALT6	ORPHA:93359
HP:0000591	Abnormal sclera morphology	126792	B3GALT6	OMIM:271640
HP:0000591	Abnormal sclera morphology	126792	B3GALT6	ORPHA:536467
HP:0000591	Abnormal sclera morphology	126792	B3GALT6	OMIM:615349
HP:0000591	Abnormal sclera morphology	9894	TELO2	ORPHA:488642
HP:0000591	Abnormal sclera morphology	1836	SLC26A2	ORPHA:628
HP:0000591	Abnormal sclera morphology	11128	POLR3A	OMIM:264090
HP:0000591	Abnormal sclera morphology	11128	POLR3A	ORPHA:3455
HP:0000591	Abnormal sclera morphology	157570	ESCO2	ORPHA:3103
HP:0000591	Abnormal sclera morphology	157570	ESCO2	OMIM:268300
HP:0000591	Abnormal sclera morphology	8936	WASF1	OMIM:618707
HP:0000591	Abnormal sclera morphology	1528	CYB5A	ORPHA:621
HP:0000591	Abnormal sclera morphology	1727	CYB5R3	ORPHA:621
HP:0000591	Abnormal sclera morphology	8517	IKBKG	ORPHA:464
HP:0000591	Abnormal sclera morphology	1303	COL12A1	ORPHA:536516
HP:0000591	Abnormal sclera morphology	51360	MBTPS2	OMIM:301014
HP:0000591	Abnormal sclera morphology	25839	COG4	OMIM:618150
HP:0000591	Abnormal sclera morphology	715	C1R	OMIM:130080
HP:0000591	Abnormal sclera morphology	368	ABCC6	OMIM:177850
HP:0000591	Abnormal sclera morphology	368	ABCC6	ORPHA:758
HP:0000591	Abnormal sclera morphology	2690	GHR	OMIM:262500
HP:0000591	Abnormal sclera morphology	2690	GHR	ORPHA:633
HP:0000591	Abnormal sclera morphology	5075	PAX1	OMIM:615560
HP:0000591	Abnormal sclera morphology	10220	GDF11	OMIM:619122
HP:0000591	Abnormal sclera morphology	53335	BCL11A	OMIM:617101
HP:0000591	Abnormal sclera morphology	57570	TRMT5	OMIM:616539
HP:0000591	Abnormal sclera morphology	84919	PPP1R15B	OMIM:616817
HP:0000591	Abnormal sclera morphology	84919	PPP1R15B	ORPHA:391408
HP:0000591	Abnormal sclera morphology	93587	TRMT10A	ORPHA:391408
HP:0000591	Abnormal sclera morphology	4488	MSX2	OMIM:168500
HP:0000591	Abnormal sclera morphology	55898	UNC45A	OMIM:619377
HP:0000591	Abnormal sclera morphology	6651	SON	ORPHA:500150
HP:0000591	Abnormal sclera morphology	10491	CRTAP	OMIM:610682
HP:0000591	Abnormal sclera morphology	5236	PGM1	OMIM:614921
HP:0000591	Abnormal sclera morphology	7048	TGFBR2	OMIM:610168
HP:0000591	Abnormal sclera morphology	7048	TGFBR2	ORPHA:60030
HP:0000591	Abnormal sclera morphology	5479	PPIB	OMIM:259440
HP:0000591	Abnormal sclera morphology	81615	TMEM163	OMIM:620243
HP:0000591	Abnormal sclera morphology	387733	IFITM5	OMIM:610967
HP:0000591	Abnormal sclera morphology	60681	FKBP10	OMIM:610968
HP:0000591	Abnormal sclera morphology	124583	CANT1	ORPHA:1425
HP:0000591	Abnormal sclera morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000591	Abnormal sclera morphology	3081	HGD	ORPHA:56
HP:0000591	Abnormal sclera morphology	1513	CTSK	ORPHA:763
HP:0000591	Abnormal sclera morphology	9469	CHST3	OMIM:245600
HP:0000591	Abnormal sclera morphology	26229	B3GAT3	OMIM:245600
HP:0000591	Abnormal sclera morphology	129285	PPP1R21	OMIM:619383
HP:0000591	Abnormal sclera morphology	91252	SLC39A13	ORPHA:157965
HP:0000591	Abnormal sclera morphology	91252	SLC39A13	OMIM:612350
HP:0000591	Abnormal sclera morphology	7043	TGFB3	OMIM:615582
HP:0000591	Abnormal sclera morphology	7471	WNT1	OMIM:615220
HP:0000591	Abnormal sclera morphology	55151	TMEM38B	OMIM:615066
HP:0000591	Abnormal sclera morphology	7046	TGFBR1	ORPHA:60030
HP:0000591	Abnormal sclera morphology	7046	TGFBR1	OMIM:609192
HP:0000591	Abnormal sclera morphology	3636	INPPL1	ORPHA:2746
HP:0000591	Abnormal sclera morphology	51013	EXOSC1	OMIM:619304
HP:0000591	Abnormal sclera morphology	5167	ENPP1	ORPHA:758
HP:0000591	Abnormal sclera morphology	871	SERPINH1	OMIM:613848
HP:0000591	Abnormal sclera morphology	2260	FGFR1	OMIM:613001
HP:0000591	Abnormal sclera morphology	3845	KRAS	ORPHA:3339
HP:0000591	Abnormal sclera morphology	3845	KRAS	OMIM:600268
HP:0000591	Abnormal sclera morphology	207	AKT1	OMIM:176920
HP:0000591	Abnormal sclera morphology	5728	PTEN	ORPHA:2969
HP:0000591	Abnormal sclera morphology	6299	SALL1	ORPHA:857
HP:0000591	Abnormal sclera morphology	51339	DACT1	ORPHA:857
HP:0000591	Abnormal sclera morphology	10992	SF3B2	OMIM:164210
HP:0000591	Abnormal sclera morphology	5573	PRKAR1A	OMIM:160980
HP:0000591	Abnormal sclera morphology	1798	DPAGT1	ORPHA:86309
HP:0000591	Abnormal sclera morphology	3423	IDS	ORPHA:217085
HP:0000591	Abnormal sclera morphology	3423	IDS	ORPHA:217093
HP:0000591	Abnormal sclera morphology	646960	PRSS56	OMIM:613517
HP:0000591	Abnormal sclera morphology	83552	MFRP	OMIM:611040
HP:0000591	Abnormal sclera morphology	27183	VPS4A	OMIM:619273
HP:0000591	Abnormal sclera morphology	5076	PAX2	OMIM:120330
HP:0000591	Abnormal sclera morphology	755	CFAP410	OMIM:617547
HP:0000591	Abnormal sclera morphology	3030	HADHA	ORPHA:5
HP:0000591	Abnormal sclera morphology	7439	BEST1	OMIM:193220
HP:0000591	Abnormal sclera morphology	402	ARL2	OMIM:619082
HP:0000591	Abnormal sclera morphology	4157	MC1R	ORPHA:79432
HP:0000591	Abnormal sclera morphology	4948	OCA2	ORPHA:79432
HP:0000591	Abnormal sclera morphology	50939	IMPG2	OMIM:613581
HP:0000591	Abnormal sclera morphology	51604	PIGT	ORPHA:369837
HP:0000591	Abnormal sclera morphology	7390	UROS	ORPHA:79277
HP:0000591	Abnormal sclera morphology	2623	GATA1	ORPHA:79277
HP:0000591	Abnormal sclera morphology	7389	UROD	ORPHA:95159
HP:0000591	Abnormal sclera morphology	55315	SLC29A3	OMIM:602782
HP:0000591	Abnormal sclera morphology	114548	NLRP3	ORPHA:575
HP:0000591	Abnormal sclera morphology	5696	PSMB8	OMIM:256040
HP:0000591	Abnormal sclera morphology	1776	DNASE1L3	ORPHA:36412
HP:0000592	Blue sclerae	9871	SEC24D	ORPHA:2050
HP:0000592	Blue sclerae	9871	SEC24D	OMIM:616294
HP:0000592	Blue sclerae	5034	P4HB	ORPHA:2050
HP:0000592	Blue sclerae	5351	PLOD1	OMIM:225400
HP:0000592	Blue sclerae	5351	PLOD1	ORPHA:1900
HP:0000592	Blue sclerae	4598	MVK	ORPHA:29
HP:0000592	Blue sclerae	4598	MVK	OMIM:610377
HP:0000592	Blue sclerae	22856	CHSY1	ORPHA:363417
HP:0000592	Blue sclerae	22856	CHSY1	OMIM:605282
HP:0000592	Blue sclerae	84627	ZNF469	OMIM:229200
HP:0000592	Blue sclerae	84627	ZNF469	ORPHA:90354
HP:0000592	Blue sclerae	26128	KIFBP	OMIM:609460
HP:0000592	Blue sclerae	6228	RPS23	OMIM:617412
HP:0000592	Blue sclerae	6885	MAP3K7	OMIM:617137
HP:0000592	Blue sclerae	6885	MAP3K7	OMIM:157800
HP:0000592	Blue sclerae	23028	KDM1A	OMIM:616728
HP:0000592	Blue sclerae	23028	KDM1A	ORPHA:477993
HP:0000592	Blue sclerae	1277	COL1A1	OMIM:259420
HP:0000592	Blue sclerae	1277	COL1A1	OMIM:166210
HP:0000592	Blue sclerae	1277	COL1A1	OMIM:166220
HP:0000592	Blue sclerae	1277	COL1A1	OMIM:619115
HP:0000592	Blue sclerae	1277	COL1A1	OMIM:166200
HP:0000592	Blue sclerae	1278	COL1A2	OMIM:259420
HP:0000592	Blue sclerae	1278	COL1A2	OMIM:166210
HP:0000592	Blue sclerae	1278	COL1A2	OMIM:166220
HP:0000592	Blue sclerae	1278	COL1A2	OMIM:619120
HP:0000592	Blue sclerae	2200	FBN1	ORPHA:284979
HP:0000592	Blue sclerae	249	ALPL	OMIM:241500
HP:0000592	Blue sclerae	51741	WWOX	OMIM:616211
HP:0000592	Blue sclerae	9442	MED27	OMIM:619286
HP:0000592	Blue sclerae	8085	KMT2D	ORPHA:2322
HP:0000592	Blue sclerae	8085	KMT2D	OMIM:147920
HP:0000592	Blue sclerae	7403	KDM6A	ORPHA:2322
HP:0000592	Blue sclerae	7403	KDM6A	OMIM:300867
HP:0000592	Blue sclerae	7403	KDM6A	OMIM:147920
HP:0000592	Blue sclerae	5831	PYCR1	OMIM:614438
HP:0000592	Blue sclerae	5831	PYCR1	OMIM:612940
HP:0000592	Blue sclerae	55033	FKBP14	OMIM:614557
HP:0000592	Blue sclerae	1289	COL5A1	OMIM:619329
HP:0000592	Blue sclerae	1289	COL5A1	OMIM:130000
HP:0000592	Blue sclerae	4297	KMT2A	OMIM:605130
HP:0000592	Blue sclerae	4784	NFIX	OMIM:602535
HP:0000592	Blue sclerae	4784	NFIX	ORPHA:561
HP:0000592	Blue sclerae	6023	RMRP	ORPHA:175
HP:0000592	Blue sclerae	113189	CHST14	ORPHA:2953
HP:0000592	Blue sclerae	113189	CHST14	OMIM:601776
HP:0000592	Blue sclerae	29940	DSE	ORPHA:2953
HP:0000592	Blue sclerae	29940	DSE	OMIM:615539
HP:0000592	Blue sclerae	55603	TENT5A	OMIM:617952
HP:0000592	Blue sclerae	23184	MESD	OMIM:618644
HP:0000592	Blue sclerae	90993	CREB3L1	OMIM:616229
HP:0000592	Blue sclerae	64131	XYLT1	OMIM:615777
HP:0000592	Blue sclerae	64131	XYLT1	ORPHA:1425
HP:0000592	Blue sclerae	64359	NXN	ORPHA:1507
HP:0000592	Blue sclerae	4920	ROR2	ORPHA:1507
HP:0000592	Blue sclerae	3481	IGF2	OMIM:180860
HP:0000592	Blue sclerae	83480	PUS3	ORPHA:488627
HP:0000592	Blue sclerae	83480	PUS3	OMIM:617051
HP:0000592	Blue sclerae	1281	COL3A1	ORPHA:286
HP:0000592	Blue sclerae	9509	ADAMTS2	OMIM:225410
HP:0000592	Blue sclerae	11107	PRDM5	OMIM:614170
HP:0000592	Blue sclerae	11107	PRDM5	ORPHA:90354
HP:0000592	Blue sclerae	5442	POLRMT	OMIM:619743
HP:0000592	Blue sclerae	4041	LRP5	ORPHA:2788
HP:0000592	Blue sclerae	23545	ATP6V0A2	OMIM:278250
HP:0000592	Blue sclerae	1954	MEGF8	OMIM:614976
HP:0000592	Blue sclerae	649	BMP1	OMIM:614856
HP:0000592	Blue sclerae	2783	GNB2	OMIM:619503
HP:0000592	Blue sclerae	54496	PRMT7	ORPHA:464288
HP:0000592	Blue sclerae	760	CA2	ORPHA:2785
HP:0000592	Blue sclerae	11285	B4GALT7	OMIM:130070
HP:0000592	Blue sclerae	10526	IPO8	OMIM:619472
HP:0000592	Blue sclerae	10526	IPO8	ORPHA:60030
HP:0000592	Blue sclerae	1857	DVL3	ORPHA:3107
HP:0000592	Blue sclerae	1857	DVL3	OMIM:616894
HP:0000592	Blue sclerae	7474	WNT5A	ORPHA:3107
HP:0000592	Blue sclerae	1855	DVL1	ORPHA:3107
HP:0000592	Blue sclerae	2535	FZD2	ORPHA:3107
HP:0000592	Blue sclerae	5593	PRKG2	OMIM:619638
HP:0000592	Blue sclerae	23233	EXOC6B	ORPHA:93359
HP:0000592	Blue sclerae	126792	B3GALT6	ORPHA:93359
HP:0000592	Blue sclerae	126792	B3GALT6	OMIM:271640
HP:0000592	Blue sclerae	126792	B3GALT6	ORPHA:536467
HP:0000592	Blue sclerae	126792	B3GALT6	OMIM:615349
HP:0000592	Blue sclerae	9894	TELO2	ORPHA:488642
HP:0000592	Blue sclerae	1836	SLC26A2	ORPHA:628
HP:0000592	Blue sclerae	11128	POLR3A	OMIM:264090
HP:0000592	Blue sclerae	11128	POLR3A	ORPHA:3455
HP:0000592	Blue sclerae	157570	ESCO2	ORPHA:3103
HP:0000592	Blue sclerae	157570	ESCO2	OMIM:268300
HP:0000592	Blue sclerae	8936	WASF1	OMIM:618707
HP:0000592	Blue sclerae	1528	CYB5A	ORPHA:621
HP:0000592	Blue sclerae	1727	CYB5R3	ORPHA:621
HP:0000592	Blue sclerae	8517	IKBKG	ORPHA:464
HP:0000592	Blue sclerae	1303	COL12A1	ORPHA:536516
HP:0000592	Blue sclerae	51360	MBTPS2	OMIM:301014
HP:0000592	Blue sclerae	25839	COG4	OMIM:618150
HP:0000592	Blue sclerae	715	C1R	OMIM:130080
HP:0000592	Blue sclerae	368	ABCC6	OMIM:177850
HP:0000592	Blue sclerae	368	ABCC6	ORPHA:758
HP:0000592	Blue sclerae	2690	GHR	OMIM:262500
HP:0000592	Blue sclerae	2690	GHR	ORPHA:633
HP:0000592	Blue sclerae	5075	PAX1	OMIM:615560
HP:0000592	Blue sclerae	10220	GDF11	OMIM:619122
HP:0000592	Blue sclerae	53335	BCL11A	OMIM:617101
HP:0000592	Blue sclerae	57570	TRMT5	OMIM:616539
HP:0000592	Blue sclerae	84919	PPP1R15B	OMIM:616817
HP:0000592	Blue sclerae	84919	PPP1R15B	ORPHA:391408
HP:0000592	Blue sclerae	93587	TRMT10A	ORPHA:391408
HP:0000592	Blue sclerae	4488	MSX2	OMIM:168500
HP:0000592	Blue sclerae	55898	UNC45A	OMIM:619377
HP:0000592	Blue sclerae	6651	SON	ORPHA:500150
HP:0000592	Blue sclerae	10491	CRTAP	OMIM:610682
HP:0000592	Blue sclerae	5236	PGM1	OMIM:614921
HP:0000592	Blue sclerae	7048	TGFBR2	OMIM:610168
HP:0000592	Blue sclerae	7048	TGFBR2	ORPHA:60030
HP:0000592	Blue sclerae	5479	PPIB	OMIM:259440
HP:0000592	Blue sclerae	81615	TMEM163	OMIM:620243
HP:0000592	Blue sclerae	387733	IFITM5	OMIM:610967
HP:0000592	Blue sclerae	60681	FKBP10	OMIM:610968
HP:0000592	Blue sclerae	124583	CANT1	ORPHA:1425
HP:0000592	Blue sclerae	55790	CSGALNACT1	ORPHA:1425
HP:0000592	Blue sclerae	3081	HGD	ORPHA:56
HP:0000592	Blue sclerae	1513	CTSK	ORPHA:763
HP:0000592	Blue sclerae	9469	CHST3	OMIM:245600
HP:0000592	Blue sclerae	26229	B3GAT3	OMIM:245600
HP:0000592	Blue sclerae	129285	PPP1R21	OMIM:619383
HP:0000592	Blue sclerae	91252	SLC39A13	ORPHA:157965
HP:0000592	Blue sclerae	91252	SLC39A13	OMIM:612350
HP:0000592	Blue sclerae	7043	TGFB3	OMIM:615582
HP:0000592	Blue sclerae	7471	WNT1	OMIM:615220
HP:0000592	Blue sclerae	55151	TMEM38B	OMIM:615066
HP:0000592	Blue sclerae	7046	TGFBR1	ORPHA:60030
HP:0000592	Blue sclerae	7046	TGFBR1	OMIM:609192
HP:0000592	Blue sclerae	3636	INPPL1	ORPHA:2746
HP:0000592	Blue sclerae	51013	EXOSC1	OMIM:619304
HP:0000592	Blue sclerae	5167	ENPP1	ORPHA:758
HP:0000592	Blue sclerae	871	SERPINH1	OMIM:613848
HP:0000593	Abnormal anterior chamber morphology	113189	CHST14	OMIM:601776
HP:0000593	Abnormal anterior chamber morphology	5295	PIK3R1	ORPHA:3163
HP:0000593	Abnormal anterior chamber morphology	63916	ELMO2	ORPHA:3019
HP:0000593	Abnormal anterior chamber morphology	4286	MITF	ORPHA:42665
HP:0000593	Abnormal anterior chamber morphology	5648	MASP1	OMIM:257920
HP:0000593	Abnormal anterior chamber morphology	5648	MASP1	ORPHA:293843
HP:0000593	Abnormal anterior chamber morphology	182	JAG1	OMIM:118450
HP:0000593	Abnormal anterior chamber morphology	10847	SRCAP	ORPHA:2044
HP:0000593	Abnormal anterior chamber morphology	10584	COLEC10	ORPHA:293843
HP:0000593	Abnormal anterior chamber morphology	78989	COLEC11	ORPHA:293843
HP:0000593	Abnormal anterior chamber morphology	2202	EFEMP1	ORPHA:98977
HP:0000593	Abnormal anterior chamber morphology	4653	MYOC	ORPHA:98977
HP:0000593	Abnormal anterior chamber morphology	2200	FBN1	OMIM:608328
HP:0000593	Abnormal anterior chamber morphology	84992	PIGY	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	84720	PIGO	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	93210	PGAP3	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	284098	PIGW	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	27315	PGAP2	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	55650	PIGV	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	9487	PIGL	ORPHA:247262
HP:0000593	Abnormal anterior chamber morphology	23554	TSPAN12	OMIM:613310
HP:0000593	Abnormal anterior chamber morphology	22931	RAB18	OMIM:614222
HP:0000593	Abnormal anterior chamber morphology	84168	ANTXR1	OMIM:230740
HP:0000593	Abnormal anterior chamber morphology	4693	NDP	OMIM:310600
HP:0000593	Abnormal anterior chamber morphology	4693	NDP	ORPHA:91495
HP:0000593	Abnormal anterior chamber morphology	4693	NDP	OMIM:305390
HP:0000593	Abnormal anterior chamber morphology	8322	FZD4	ORPHA:91495
HP:0000593	Abnormal anterior chamber morphology	81794	ADAMTS10	OMIM:277600
HP:0000593	Abnormal anterior chamber morphology	91851	CHRDL1	OMIM:309300
HP:0000593	Abnormal anterior chamber morphology	4053	LTBP2	OMIM:251750
HP:0000593	Abnormal anterior chamber morphology	145173	B3GLCT	ORPHA:709
HP:0000593	Abnormal anterior chamber morphology	6775	STAT4	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	3560	IL2RB	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	79722	ANKRD55	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	26191	PTPN22	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	919	CD247	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	3559	IL2RA	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	5771	PTPN2	ORPHA:85410
HP:0000593	Abnormal anterior chamber morphology	4041	LRP5	OMIM:259770
HP:0000593	Abnormal anterior chamber morphology	444	ASPH	OMIM:601552
HP:0000593	Abnormal anterior chamber morphology	58495	OVOL2	OMIM:122000
HP:0000593	Abnormal anterior chamber morphology	58495	OVOL2	ORPHA:98973
HP:0000593	Abnormal anterior chamber morphology	7837	PXDN	OMIM:269400
HP:0000593	Abnormal anterior chamber morphology	5080	PAX6	OMIM:604229
HP:0000593	Abnormal anterior chamber morphology	5080	PAX6	ORPHA:708
HP:0000593	Abnormal anterior chamber morphology	5308	PITX2	ORPHA:708
HP:0000593	Abnormal anterior chamber morphology	30813	VSX1	OMIM:614195
HP:0000593	Abnormal anterior chamber morphology	30813	VSX1	ORPHA:98973
HP:0000593	Abnormal anterior chamber morphology	6935	ZEB1	ORPHA:98973
HP:0000593	Abnormal anterior chamber morphology	79977	GRHL2	ORPHA:98973
HP:0000593	Abnormal anterior chamber morphology	1296	COL8A2	ORPHA:98973
HP:0000593	Abnormal anterior chamber morphology	80781	COL18A1	OMIM:618880
HP:0000593	Abnormal anterior chamber morphology	220202	ATOH7	OMIM:221900
HP:0000593	Abnormal anterior chamber morphology	9227	LRAT	ORPHA:364055
HP:0000593	Abnormal anterior chamber morphology	55812	SPATA7	ORPHA:364055
HP:0000593	Abnormal anterior chamber morphology	6121	RPE65	ORPHA:364055
HP:0000593	Abnormal anterior chamber morphology	167691	LCA5	ORPHA:364055
HP:0000593	Abnormal anterior chamber morphology	170691	ADAMTS17	OMIM:613195
HP:0000593	Abnormal anterior chamber morphology	9215	LARGE1	OMIM:613154
HP:0000593	Abnormal anterior chamber morphology	406987	MIR204	OMIM:616722
HP:0000593	Abnormal anterior chamber morphology	1545	CYP1B1	OMIM:617315
HP:0000593	Abnormal anterior chamber morphology	2301	FOXE3	OMIM:610256
HP:0000593	Abnormal anterior chamber morphology	3166	HMX1	OMIM:612109
HP:0000593	Abnormal anterior chamber morphology	2296	FOXC1	OMIM:602482
HP:0000593	Abnormal anterior chamber morphology	4016	LOXL1	OMIM:177650
HP:0000594	Shallow anterior chamber	444	ASPH	OMIM:601552
HP:0000594	Shallow anterior chamber	220202	ATOH7	OMIM:221900
HP:0000594	Shallow anterior chamber	220202	ATOH7	ORPHA:91495
HP:0000594	Shallow anterior chamber	2200	FBN1	OMIM:608328
HP:0000594	Shallow anterior chamber	84992	PIGY	ORPHA:247262
HP:0000594	Shallow anterior chamber	84720	PIGO	ORPHA:247262
HP:0000594	Shallow anterior chamber	93210	PGAP3	ORPHA:247262
HP:0000594	Shallow anterior chamber	284098	PIGW	ORPHA:247262
HP:0000594	Shallow anterior chamber	27315	PGAP2	ORPHA:247262
HP:0000594	Shallow anterior chamber	55650	PIGV	ORPHA:247262
HP:0000594	Shallow anterior chamber	9487	PIGL	ORPHA:247262
HP:0000594	Shallow anterior chamber	170691	ADAMTS17	OMIM:613195
HP:0000594	Shallow anterior chamber	23554	TSPAN12	OMIM:613310
HP:0000594	Shallow anterior chamber	22931	RAB18	OMIM:614222
HP:0000594	Shallow anterior chamber	84168	ANTXR1	OMIM:230740
HP:0000594	Shallow anterior chamber	4693	NDP	OMIM:310600
HP:0000594	Shallow anterior chamber	4693	NDP	ORPHA:91495
HP:0000594	Shallow anterior chamber	4693	NDP	OMIM:305390
HP:0000594	Shallow anterior chamber	8322	FZD4	ORPHA:91495
HP:0000594	Shallow anterior chamber	4053	LTBP2	OMIM:614819
HP:0000594	Shallow anterior chamber	81794	ADAMTS10	OMIM:277600
HP:0000598	Abnormality of the ear	4659	PPP1R12A	OMIM:618820
HP:0000598	Abnormality of the ear	23314	SATB2	ORPHA:251028
HP:0000598	Abnormality of the ear	2887	GRB10	ORPHA:96182
HP:0000598	Abnormality of the ear	2132	EXT2	ORPHA:466926
HP:0000598	Abnormality of the ear	9853	RUSC2	OMIM:617773
HP:0000598	Abnormality of the ear	51126	NAA20	OMIM:619717
HP:0000598	Abnormality of the ear	55627	SMPD4	OMIM:618622
HP:0000598	Abnormality of the ear	3020	H3-3A	OMIM:619720
HP:0000598	Abnormality of the ear	80816	ASXL3	OMIM:615485
HP:0000598	Abnormality of the ear	10225	CD96	OMIM:211750
HP:0000598	Abnormality of the ear	5119	CHMP1A	OMIM:614961
HP:0000598	Abnormality of the ear	55858	TMEM165	OMIM:614727
HP:0000598	Abnormality of the ear	23116	TOGARAM1	OMIM:619185
HP:0000598	Abnormality of the ear	26005	C2CD3	OMIM:615948
HP:0000598	Abnormality of the ear	8493	PPM1D	OMIM:617450
HP:0000598	Abnormality of the ear	4593	MUSK	OMIM:208150
HP:0000598	Abnormality of the ear	4593	MUSK	ORPHA:994
HP:0000598	Abnormality of the ear	57680	CHD8	OMIM:615032
HP:0000598	Abnormality of the ear	6660	SOX5	OMIM:616803
HP:0000598	Abnormality of the ear	285175	UNC80	OMIM:616801
HP:0000598	Abnormality of the ear	6942	TCF20	OMIM:618430
HP:0000598	Abnormality of the ear	23261	CAMTA1	OMIM:614756
HP:0000598	Abnormality of the ear	55691	FRMD4A	OMIM:616819
HP:0000598	Abnormality of the ear	64919	BCL11B	OMIM:617237
HP:0000598	Abnormality of the ear	4087	SMAD2	OMIM:619657
HP:0000598	Abnormality of the ear	171023	ASXL1	OMIM:605039
HP:0000598	Abnormality of the ear	164	AP1G1	OMIM:619548
HP:0000598	Abnormality of the ear	2879	GPX4	OMIM:250220
HP:0000598	Abnormality of the ear	84706	GPT2	OMIM:616281
HP:0000598	Abnormality of the ear	55906	ZC4H2	OMIM:301041
HP:0000598	Abnormality of the ear	5898	RALA	OMIM:619311
HP:0000598	Abnormality of the ear	65062	TMEM237	OMIM:614424
HP:0000598	Abnormality of the ear	128869	PIGU	OMIM:618590
HP:0000598	Abnormality of the ear	7707	ZNF148	OMIM:617260
HP:0000598	Abnormality of the ear	6647	SOD1	OMIM:618598
HP:0000598	Abnormality of the ear	5859	QARS1	OMIM:615760
HP:0000598	Abnormality of the ear	84162	BLTP1	OMIM:617822
HP:0000598	Abnormality of the ear	4081	MAB21L1	OMIM:618479
HP:0000598	Abnormality of the ear	5831	PYCR1	OMIM:614438
HP:0000598	Abnormality of the ear	176	ACAN	OMIM:612813
HP:0000598	Abnormality of the ear	176	ACAN	ORPHA:171866
HP:0000598	Abnormality of the ear	84892	POMGNT2	ORPHA:899
HP:0000598	Abnormality of the ear	148789	B3GALNT2	ORPHA:899
HP:0000598	Abnormality of the ear	1282	COL4A1	ORPHA:899
HP:0000598	Abnormality of the ear	10329	RXYLT1	ORPHA:899
HP:0000598	Abnormality of the ear	1605	DAG1	ORPHA:899
HP:0000598	Abnormality of the ear	11041	B4GAT1	ORPHA:899
HP:0000598	Abnormality of the ear	63931	MRPS14	OMIM:618378
HP:0000598	Abnormality of the ear	6304	SATB1	OMIM:619229
HP:0000598	Abnormality of the ear	4927	NUP88	ORPHA:994
HP:0000598	Abnormality of the ear	4927	NUP88	OMIM:618393
HP:0000598	Abnormality of the ear	7846	TUBA1A	ORPHA:994
HP:0000598	Abnormality of the ear	4654	MYOD1	ORPHA:994
HP:0000598	Abnormality of the ear	5913	RAPSN	ORPHA:994
HP:0000598	Abnormality of the ear	285489	DOK7	ORPHA:994
HP:0000598	Abnormality of the ear	8812	CCNK	OMIM:618147
HP:0000598	Abnormality of the ear	3636	INPPL1	OMIM:258480
HP:0000598	Abnormality of the ear	83737	ITCH	OMIM:613385
HP:0000598	Abnormality of the ear	64093	SMOC1	OMIM:206920
HP:0000598	Abnormality of the ear	118924	FRA10AC1	OMIM:620113
HP:0000598	Abnormality of the ear	2273	FHL1	OMIM:300280
HP:0000598	Abnormality of the ear	170692	ADAMTS18	OMIM:615458
HP:0000598	Abnormality of the ear	101929726	MYMX	OMIM:619941
HP:0000598	Abnormality of the ear	10736	SIX2	ORPHA:488437
HP:0000598	Abnormality of the ear	10082	GPC6	ORPHA:93329
HP:0000598	Abnormality of the ear	2911	GRM1	OMIM:617691
HP:0000598	Abnormality of the ear	125336	LOXHD1	OMIM:613079
HP:0000598	Abnormality of the ear	1181	CLCN2	ORPHA:404
HP:0000598	Abnormality of the ear	1584	CYP11B1	ORPHA:403
HP:0000598	Abnormality of the ear	1585	CYP11B2	ORPHA:403
HP:0000598	Abnormality of the ear	857	CAV1	OMIM:606721
HP:0000598	Abnormality of the ear	1834	DSPP	OMIM:605594
HP:0000598	Abnormality of the ear	1277	COL1A1	OMIM:166220
HP:0000598	Abnormality of the ear	1277	COL1A1	OMIM:166200
HP:0000598	Abnormality of the ear	57061	HYMAI	ORPHA:96191
HP:0000598	Abnormality of the ear	5325	PLAGL1	ORPHA:96191
HP:0000598	Abnormality of the ear	1349	COX7B	ORPHA:2556
HP:0000598	Abnormality of the ear	3052	HCCS	ORPHA:2556
HP:0000598	Abnormality of the ear	5080	PAX6	ORPHA:893
HP:0000598	Abnormality of the ear	5080	PAX6	ORPHA:1065
HP:0000598	Abnormality of the ear	627	BDNF	ORPHA:893
HP:0000598	Abnormality of the ear	7490	WT1	ORPHA:893
HP:0000598	Abnormality of the ear	1185	CLCN6	OMIM:619173
HP:0000598	Abnormality of the ear	10491	CRTAP	OMIM:610682
HP:0000598	Abnormality of the ear	79574	EPS8L3	OMIM:612841
HP:0000598	Abnormality of the ear	3708	ITPR1	ORPHA:1065
HP:0000598	Abnormality of the ear	6678	SPARC	OMIM:616507
HP:0000598	Abnormality of the ear	2776	GNAQ	ORPHA:3205
HP:0000598	Abnormality of the ear	3081	HGD	ORPHA:56
HP:0000598	Abnormality of the ear	8517	IKBKG	ORPHA:464
HP:0000598	Abnormality of the ear	51569	UFM1	OMIM:617899
HP:0000598	Abnormality of the ear	4897	NRCAM	OMIM:619833
HP:0000598	Abnormality of the ear	7068	THRB	OMIM:274300
HP:0000598	Abnormality of the ear	64412	GZF1	OMIM:617662
HP:0000598	Abnormality of the ear	56997	COQ8A	ORPHA:139485
HP:0000598	Abnormality of the ear	51112	TRAPPC12	OMIM:617669
HP:0000598	Abnormality of the ear	55154	MSTO1	OMIM:617675
HP:0000598	Abnormality of the ear	55154	MSTO1	ORPHA:502423
HP:0000598	Abnormality of the ear	79140	CCDC28B	OMIM:209900
HP:0000598	Abnormality of the ear	10087	CERT1	OMIM:616351
HP:0000598	Abnormality of the ear	8550	MAPKAPK5	OMIM:619869
HP:0000598	Abnormality of the ear	92482	BBIP1	ORPHA:110
HP:0000598	Abnormality of the ear	80184	CEP290	ORPHA:110
HP:0000598	Abnormality of the ear	80184	CEP290	ORPHA:65
HP:0000598	Abnormality of the ear	11020	IFT27	ORPHA:110
HP:0000598	Abnormality of the ear	11020	IFT27	OMIM:615996
HP:0000598	Abnormality of the ear	4867	NPHP1	ORPHA:110
HP:0000598	Abnormality of the ear	51057	WDPCP	ORPHA:110
HP:0000598	Abnormality of the ear	27241	BBS9	ORPHA:110
HP:0000598	Abnormality of the ear	84984	CEP19	ORPHA:110
HP:0000598	Abnormality of the ear	22954	TRIM32	ORPHA:110
HP:0000598	Abnormality of the ear	54903	MKS1	ORPHA:110
HP:0000598	Abnormality of the ear	79738	BBS10	ORPHA:110
HP:0000598	Abnormality of the ear	585	BBS4	ORPHA:110
HP:0000598	Abnormality of the ear	8195	MKKS	ORPHA:110
HP:0000598	Abnormality of the ear	54585	LZTFL1	ORPHA:110
HP:0000598	Abnormality of the ear	55212	BBS7	ORPHA:110
HP:0000598	Abnormality of the ear	166379	BBS12	ORPHA:110
HP:0000598	Abnormality of the ear	129880	BBS5	ORPHA:110
HP:0000598	Abnormality of the ear	80173	IFT74	ORPHA:110
HP:0000598	Abnormality of the ear	5476	CTSA	ORPHA:351
HP:0000598	Abnormality of the ear	5476	CTSA	OMIM:256540
HP:0000598	Abnormality of the ear	3098	HK1	OMIM:618547
HP:0000598	Abnormality of the ear	2517	FUCA1	ORPHA:349
HP:0000598	Abnormality of the ear	2517	FUCA1	OMIM:230000
HP:0000598	Abnormality of the ear	2947	GSTM3	ORPHA:586
HP:0000598	Abnormality of the ear	7040	TGFB1	ORPHA:586
HP:0000598	Abnormality of the ear	7040	TGFB1	OMIM:131300
HP:0000598	Abnormality of the ear	7040	TGFB1	ORPHA:1328
HP:0000598	Abnormality of the ear	2729	GCLC	ORPHA:586
HP:0000598	Abnormality of the ear	1084	CEACAM3	ORPHA:586
HP:0000598	Abnormality of the ear	6556	SLC11A1	ORPHA:586
HP:0000598	Abnormality of the ear	51164	DCTN4	ORPHA:586
HP:0000598	Abnormality of the ear	3783	KCNN4	ORPHA:586
HP:0000598	Abnormality of the ear	4282	MIF	ORPHA:586
HP:0000598	Abnormality of the ear	6550	SLC9A3	ORPHA:586
HP:0000598	Abnormality of the ear	3162	HMOX1	ORPHA:586
HP:0000598	Abnormality of the ear	115019	SLC26A9	ORPHA:586
HP:0000598	Abnormality of the ear	3077	HFE	ORPHA:586
HP:0000598	Abnormality of the ear	11254	SLC6A14	ORPHA:586
HP:0000598	Abnormality of the ear	5265	SERPINA1	ORPHA:586
HP:0000598	Abnormality of the ear	1080	CFTR	ORPHA:586
HP:0000598	Abnormality of the ear	22802	CLCA4	ORPHA:586
HP:0000598	Abnormality of the ear	4680	CEACAM6	ORPHA:586
HP:0000598	Abnormality of the ear	5354	PLP1	OMIM:312080
HP:0000598	Abnormality of the ear	54532	USP53	OMIM:619658
HP:0000598	Abnormality of the ear	404672	GTF2H5	OMIM:616395
HP:0000598	Abnormality of the ear	5081	PAX7	OMIM:618578
HP:0000598	Abnormality of the ear	4126	MANBA	ORPHA:118
HP:0000598	Abnormality of the ear	4126	MANBA	OMIM:248510
HP:0000598	Abnormality of the ear	11232	POLG2	ORPHA:254892
HP:0000598	Abnormality of the ear	22827	PUF60	ORPHA:508498
HP:0000598	Abnormality of the ear	6448	SGSH	OMIM:252900
HP:0000598	Abnormality of the ear	5308	PITX2	ORPHA:782
HP:0000598	Abnormality of the ear	7084	TK2	ORPHA:254886
HP:0000598	Abnormality of the ear	7084	TK2	OMIM:609560
HP:0000598	Abnormality of the ear	2645	GCK	ORPHA:99885
HP:0000598	Abnormality of the ear	3651	PDX1	ORPHA:99885
HP:0000598	Abnormality of the ear	3630	INS	ORPHA:99885
HP:0000598	Abnormality of the ear	346171	ZFP57	ORPHA:99886
HP:0000598	Abnormality of the ear	3753	KCNE1	ORPHA:101016
HP:0000598	Abnormality of the ear	3762	KCNJ5	ORPHA:101016
HP:0000598	Abnormality of the ear	6910	TBX5	ORPHA:101016
HP:0000598	Abnormality of the ear	6336	SCN10A	ORPHA:101016
HP:0000598	Abnormality of the ear	3757	KCNH2	ORPHA:101016
HP:0000598	Abnormality of the ear	9992	KCNE2	ORPHA:101016
HP:0000598	Abnormality of the ear	10142	AKAP9	ORPHA:101016
HP:0000598	Abnormality of the ear	9722	NOS1AP	ORPHA:101016
HP:0000598	Abnormality of the ear	775	CACNA1C	ORPHA:101016
HP:0000598	Abnormality of the ear	3784	KCNQ1	ORPHA:101016
HP:0000598	Abnormality of the ear	6330	SCN4B	ORPHA:101016
HP:0000598	Abnormality of the ear	6640	SNTA1	ORPHA:101016
HP:0000598	Abnormality of the ear	859	CAV3	ORPHA:101016
HP:0000598	Abnormality of the ear	287	ANK2	ORPHA:101016
HP:0000598	Abnormality of the ear	5980	REV3L	ORPHA:570
HP:0000598	Abnormality of the ear	23129	PLXND1	ORPHA:570
HP:0000598	Abnormality of the ear	4052	LTBP1	OMIM:619451
HP:0000598	Abnormality of the ear	84068	SLC10A7	OMIM:618363
HP:0000598	Abnormality of the ear	201163	FLCN	OMIM:610883
HP:0000598	Abnormality of the ear	9132	KCNQ4	OMIM:600101
HP:0000598	Abnormality of the ear	2531	KDSR	ORPHA:317
HP:0000598	Abnormality of the ear	127534	GJB4	ORPHA:317
HP:0000598	Abnormality of the ear	1286	COL4A4	OMIM:203780
HP:0000598	Abnormality of the ear	5184	PEPD	ORPHA:742
HP:0000598	Abnormality of the ear	8567	MADD	OMIM:619004
HP:0000598	Abnormality of the ear	8239	USP9X	OMIM:300968
HP:0000598	Abnormality of the ear	8239	USP9X	ORPHA:480880
HP:0000598	Abnormality of the ear	1654	DDX3X	OMIM:300958
HP:0000598	Abnormality of the ear	1654	DDX3X	ORPHA:457260
HP:0000598	Abnormality of the ear	5745	PTH1R	OMIM:156400
HP:0000598	Abnormality of the ear	10273	STUB1	ORPHA:412057
HP:0000598	Abnormality of the ear	253827	MSRB3	OMIM:613718
HP:0000598	Abnormality of the ear	116150	NUS1	OMIM:617082
HP:0000598	Abnormality of the ear	84168	ANTXR1	ORPHA:2067
HP:0000598	Abnormality of the ear	6342	SCP2	OMIM:613724
HP:0000598	Abnormality of the ear	4669	NAGLU	OMIM:252920
HP:0000598	Abnormality of the ear	246243	RNASEH1	ORPHA:329336
HP:0000598	Abnormality of the ear	84282	RNF135	ORPHA:137634
HP:0000598	Abnormality of the ear	324	APC	ORPHA:99818
HP:0000598	Abnormality of the ear	324	APC	ORPHA:3258
HP:0000598	Abnormality of the ear	10667	FARS2	OMIM:614946
HP:0000598	Abnormality of the ear	4552	MTRR	ORPHA:2169
HP:0000598	Abnormality of the ear	4884	NPTX1	OMIM:620158
HP:0000598	Abnormality of the ear	79631	EFL1	ORPHA:811
HP:0000598	Abnormality of the ear	51119	SBDS	ORPHA:811
HP:0000598	Abnormality of the ear	6729	SRP54	ORPHA:811
HP:0000598	Abnormality of the ear	50814	NSDHL	OMIM:308050
HP:0000598	Abnormality of the ear	55157	DARS2	ORPHA:137898
HP:0000598	Abnormality of the ear	10367	MICU1	ORPHA:401768
HP:0000598	Abnormality of the ear	6687	SPG7	OMIM:607259
HP:0000598	Abnormality of the ear	9445	ITM2B	OMIM:117300
HP:0000598	Abnormality of the ear	9184	BUB3	ORPHA:1052
HP:0000598	Abnormality of the ear	699	BUB1	ORPHA:1052
HP:0000598	Abnormality of the ear	9319	TRIP13	ORPHA:1052
HP:0000598	Abnormality of the ear	701	BUB1B	ORPHA:1052
HP:0000598	Abnormality of the ear	3475	IFRD1	ORPHA:98771
HP:0000598	Abnormality of the ear	1798	DPAGT1	ORPHA:86309
HP:0000598	Abnormality of the ear	3769	KCNJ13	ORPHA:65
HP:0000598	Abnormality of the ear	343035	RD3	ORPHA:65
HP:0000598	Abnormality of the ear	57096	RPGRIP1	ORPHA:65
HP:0000598	Abnormality of the ear	85015	USP45	ORPHA:65
HP:0000598	Abnormality of the ear	9657	IQCB1	ORPHA:65
HP:0000598	Abnormality of the ear	23746	AIPL1	ORPHA:65
HP:0000598	Abnormality of the ear	167691	LCA5	ORPHA:65
HP:0000598	Abnormality of the ear	3748	KCNC3	ORPHA:98768
HP:0000598	Abnormality of the ear	3748	KCNC3	OMIM:605259
HP:0000598	Abnormality of the ear	79228	THOC6	ORPHA:363444
HP:0000598	Abnormality of the ear	2934	GSN	ORPHA:85448
HP:0000598	Abnormality of the ear	415	ARSL	OMIM:302950
HP:0000598	Abnormality of the ear	64116	SLC39A8	ORPHA:468699
HP:0000598	Abnormality of the ear	64116	SLC39A8	OMIM:616721
HP:0000598	Abnormality of the ear	9573	GDF3	ORPHA:2345
HP:0000598	Abnormality of the ear	9894	TELO2	OMIM:616954
HP:0000598	Abnormality of the ear	9894	TELO2	ORPHA:488642
HP:0000598	Abnormality of the ear	55593	OTUD5	OMIM:301056
HP:0000598	Abnormality of the ear	79587	CARS2	ORPHA:477774
HP:0000598	Abnormality of the ear	79587	CARS2	OMIM:616672
HP:0000598	Abnormality of the ear	10229	COQ7	OMIM:616733
HP:0000598	Abnormality of the ear	83479	DDX59	OMIM:174300
HP:0000598	Abnormality of the ear	10651	MTX2	ORPHA:90153
HP:0000598	Abnormality of the ear	6597	SMARCA4	ORPHA:1465
HP:0000598	Abnormality of the ear	6597	SMARCA4	OMIM:614609
HP:0000598	Abnormality of the ear	6659	SOX4	ORPHA:1465
HP:0000598	Abnormality of the ear	6601	SMARCC2	ORPHA:1465
HP:0000598	Abnormality of the ear	6602	SMARCD1	ORPHA:1465
HP:0000598	Abnormality of the ear	6664	SOX11	ORPHA:1465
HP:0000598	Abnormality of the ear	2917	GRM7	OMIM:618922
HP:0000598	Abnormality of the ear	7249	TSC2	OMIM:613254
HP:0000598	Abnormality of the ear	3458	IFNG	OMIM:613254
HP:0000598	Abnormality of the ear	80704	SLC19A3	ORPHA:255241
HP:0000598	Abnormality of the ear	55967	NDUFA12	ORPHA:255241
HP:0000598	Abnormality of the ear	51204	TACO1	ORPHA:255241
HP:0000598	Abnormality of the ear	137682	NDUFAF6	ORPHA:255241
HP:0000598	Abnormality of the ear	5160	PDHA1	ORPHA:255241
HP:0000598	Abnormality of the ear	100131801	PET100	ORPHA:255241
HP:0000598	Abnormality of the ear	1355	COX15	ORPHA:255241
HP:0000598	Abnormality of the ear	1892	ECHS1	ORPHA:255241
HP:0000598	Abnormality of the ear	1892	ECHS1	OMIM:616277
HP:0000598	Abnormality of the ear	123263	MTFMT	ORPHA:255241
HP:0000598	Abnormality of the ear	51079	NDUFA13	ORPHA:255241
HP:0000598	Abnormality of the ear	51079	NDUFA13	OMIM:618249
HP:0000598	Abnormality of the ear	4705	NDUFA10	ORPHA:255241
HP:0000598	Abnormality of the ear	51601	LIPT1	ORPHA:255241
HP:0000598	Abnormality of the ear	4695	NDUFA2	ORPHA:255241
HP:0000598	Abnormality of the ear	4697	NDUFA4	ORPHA:255241
HP:0000598	Abnormality of the ear	4704	NDUFA9	ORPHA:255241
HP:0000598	Abnormality of the ear	4704	NDUFA9	OMIM:618247
HP:0000598	Abnormality of the ear	259266	ASPM	OMIM:608716
HP:0000598	Abnormality of the ear	6651	SON	ORPHA:500150
HP:0000598	Abnormality of the ear	23558	WBP2	OMIM:617639
HP:0000598	Abnormality of the ear	64787	EPS8L2	OMIM:617637
HP:0000598	Abnormality of the ear	5205	ATP8B1	OMIM:243300
HP:0000598	Abnormality of the ear	23309	SIN3B	ORPHA:500166
HP:0000598	Abnormality of the ear	1468	SLC25A10	OMIM:618972
HP:0000598	Abnormality of the ear	4281	MID1	ORPHA:2745
HP:0000598	Abnormality of the ear	8398	PLA2G6	OMIM:256600
HP:0000598	Abnormality of the ear	204219	CERS3	ORPHA:79394
HP:0000598	Abnormality of the ear	285848	PNPLA1	ORPHA:79394
HP:0000598	Abnormality of the ear	10617	STAMBP	OMIM:614261
HP:0000598	Abnormality of the ear	8294	H4C9	OMIM:619951
HP:0000598	Abnormality of the ear	22880	MORC2	OMIM:616688
HP:0000598	Abnormality of the ear	22880	MORC2	OMIM:619090
HP:0000598	Abnormality of the ear	22880	MORC2	ORPHA:466768
HP:0000598	Abnormality of the ear	114803	MYSM1	ORPHA:508542
HP:0000598	Abnormality of the ear	4522	MTHFD1	OMIM:617780
HP:0000598	Abnormality of the ear	3021	H3-3B	OMIM:619721
HP:0000598	Abnormality of the ear	79639	TMEM53	OMIM:619727
HP:0000598	Abnormality of the ear	7086	TKT	ORPHA:488618
HP:0000598	Abnormality of the ear	137492	VPS37A	ORPHA:319199
HP:0000598	Abnormality of the ear	7021	TFAP2B	ORPHA:46627
HP:0000598	Abnormality of the ear	1009	CDH11	OMIM:619736
HP:0000598	Abnormality of the ear	22872	SEC31A	OMIM:618651
HP:0000598	Abnormality of the ear	57178	ZMIZ1	OMIM:618659
HP:0000598	Abnormality of the ear	55623	THUMPD1	OMIM:619989
HP:0000598	Abnormality of the ear	54902	TTC19	OMIM:615157
HP:0000598	Abnormality of the ear	54928	BPNT2	OMIM:614078
HP:0000598	Abnormality of the ear	8878	SQSTM1	OMIM:167250
HP:0000598	Abnormality of the ear	8878	SQSTM1	OMIM:617145
HP:0000598	Abnormality of the ear	5459	POU4F3	OMIM:602459
HP:0000598	Abnormality of the ear	79989	IFT56	OMIM:619534
HP:0000598	Abnormality of the ear	60681	FKBP10	OMIM:610968
HP:0000598	Abnormality of the ear	29893	PSMC3IP	ORPHA:243
HP:0000598	Abnormality of the ear	171568	POLR3H	ORPHA:243
HP:0000598	Abnormality of the ear	2516	NR5A1	ORPHA:243
HP:0000598	Abnormality of the ear	125150	ZSWIM7	ORPHA:243
HP:0000598	Abnormality of the ear	9210	BMP15	ORPHA:243
HP:0000598	Abnormality of the ear	23514	SPIDR	ORPHA:243
HP:0000598	Abnormality of the ear	2492	FSHR	ORPHA:243
HP:0000598	Abnormality of the ear	56945	MRPS22	ORPHA:243
HP:0000598	Abnormality of the ear	646	BNC1	ORPHA:243
HP:0000598	Abnormality of the ear	10058	ABCB6	ORPHA:241
HP:0000598	Abnormality of the ear	4509	MT-ATP8	ORPHA:480
HP:0000598	Abnormality of the ear	54808	DYM	ORPHA:239
HP:0000598	Abnormality of the ear	3912	LAMB1	OMIM:615191
HP:0000598	Abnormality of the ear	79879	CCDC134	OMIM:619795
HP:0000598	Abnormality of the ear	79944	L2HGDH	OMIM:236792
HP:0000598	Abnormality of the ear	4942	OAT	ORPHA:414
HP:0000598	Abnormality of the ear	8869	ST3GAL5	OMIM:609056
HP:0000598	Abnormality of the ear	2898	GRIK2	OMIM:619580
HP:0000598	Abnormality of the ear	10483	SEC23B	ORPHA:201
HP:0000598	Abnormality of the ear	205717	USF3	ORPHA:201
HP:0000598	Abnormality of the ear	100144748	KLLN	ORPHA:201
HP:0000598	Abnormality of the ear	5144	PDE4D	ORPHA:439822
HP:0000598	Abnormality of the ear	5144	PDE4D	ORPHA:950
HP:0000598	Abnormality of the ear	11340	EXOSC8	OMIM:616081
HP:0000598	Abnormality of the ear	3975	LHX1	ORPHA:261265
HP:0000598	Abnormality of the ear	6928	HNF1B	ORPHA:261265
HP:0000598	Abnormality of the ear	6928	HNF1B	ORPHA:93111
HP:0000598	Abnormality of the ear	3852	KRT5	OMIM:619599
HP:0000598	Abnormality of the ear	51604	PIGT	ORPHA:369837
HP:0000598	Abnormality of the ear	8911	CACNA1I	OMIM:620114
HP:0000598	Abnormality of the ear	23554	TSPAN12	ORPHA:891
HP:0000598	Abnormality of the ear	8322	FZD4	ORPHA:891
HP:0000598	Abnormality of the ear	55898	UNC45A	OMIM:619377
HP:0000598	Abnormality of the ear	55005	RMND1	OMIM:614922
HP:0000598	Abnormality of the ear	2581	GALC	ORPHA:206436
HP:0000598	Abnormality of the ear	2581	GALC	OMIM:245200
HP:0000598	Abnormality of the ear	5660	PSAP	ORPHA:206436
HP:0000598	Abnormality of the ear	79644	SRD5A3	ORPHA:324737
HP:0000598	Abnormality of the ear	8506	CNTNAP1	OMIM:618186
HP:0000598	Abnormality of the ear	80207	OPA3	OMIM:165300
HP:0000598	Abnormality of the ear	8496	PPFIBP1	OMIM:620024
HP:0000598	Abnormality of the ear	5689	PSMB1	OMIM:620038
HP:0000598	Abnormality of the ear	26277	TINF2	OMIM:613990
HP:0000598	Abnormality of the ear	26277	TINF2	ORPHA:1775
HP:0000598	Abnormality of the ear	55037	PTCD3	OMIM:619057
HP:0000598	Abnormality of the ear	84823	LMNB2	ORPHA:79087
HP:0000598	Abnormality of the ear	649	BMP1	OMIM:614856
HP:0000598	Abnormality of the ear	25923	ATL3	ORPHA:36386
HP:0000598	Abnormality of the ear	9517	SPTLC2	ORPHA:36386
HP:0000598	Abnormality of the ear	51062	ATL1	ORPHA:36386
HP:0000598	Abnormality of the ear	2615	LRRC32	OMIM:619074
HP:0000598	Abnormality of the ear	443	ASPA	OMIM:271900
HP:0000598	Abnormality of the ear	1857	DVL3	ORPHA:3107
HP:0000598	Abnormality of the ear	1857	DVL3	OMIM:616894
HP:0000598	Abnormality of the ear	7474	WNT5A	ORPHA:3107
HP:0000598	Abnormality of the ear	9289	ADGRG1	ORPHA:98889
HP:0000598	Abnormality of the ear	5297	PI4KA	ORPHA:98889
HP:0000598	Abnormality of the ear	27286	SRPX2	ORPHA:98889
HP:0000598	Abnormality of the ear	5700	PSMC1	OMIM:620071
HP:0000598	Abnormality of the ear	58508	KMT2C	ORPHA:261652
HP:0000598	Abnormality of the ear	2548	GAA	ORPHA:308552
HP:0000598	Abnormality of the ear	2548	GAA	OMIM:232300
HP:0000598	Abnormality of the ear	3329	HSPD1	ORPHA:100994
HP:0000598	Abnormality of the ear	3798	KIF5A	ORPHA:100991
HP:0000598	Abnormality of the ear	776	CACNA1D	OMIM:614896
HP:0000598	Abnormality of the ear	23590	PDSS1	OMIM:614651
HP:0000598	Abnormality of the ear	51475	CABP2	OMIM:614899
HP:0000598	Abnormality of the ear	865	CBFB	OMIM:620099
HP:0000598	Abnormality of the ear	6938	TCF12	ORPHA:35099
HP:0000598	Abnormality of the ear	411	ARSB	OMIM:253200
HP:0000598	Abnormality of the ear	55784	MCTP2	ORPHA:1596
HP:0000598	Abnormality of the ear	9512	PMPCB	OMIM:617954
HP:0000598	Abnormality of the ear	2232	FDXR	OMIM:617717
HP:0000598	Abnormality of the ear	7421	VDR	OMIM:277440
HP:0000598	Abnormality of the ear	54658	UGT1A1	ORPHA:79234
HP:0000598	Abnormality of the ear	7874	USP7	ORPHA:500055
HP:0000598	Abnormality of the ear	2643	GCH1	ORPHA:98808
HP:0000598	Abnormality of the ear	4929	NR4A2	ORPHA:98808
HP:0000598	Abnormality of the ear	3615	IMPDH2	ORPHA:98808
HP:0000598	Abnormality of the ear	2588	GALNS	OMIM:253000
HP:0000598	Abnormality of the ear	23233	EXOC6B	ORPHA:93359
HP:0000598	Abnormality of the ear	126792	B3GALT6	ORPHA:93359
HP:0000598	Abnormality of the ear	4714	NDUFB8	ORPHA:70474
HP:0000598	Abnormality of the ear	9997	SCO2	ORPHA:70474
HP:0000598	Abnormality of the ear	23630	KCNE5	ORPHA:86818
HP:0000598	Abnormality of the ear	2182	ACSL4	ORPHA:86818
HP:0000598	Abnormality of the ear	55278	QRSL1	OMIM:618835
HP:0000598	Abnormality of the ear	5188	GATB	OMIM:618838
HP:0000598	Abnormality of the ear	283459	GATC	OMIM:618839
HP:0000598	Abnormality of the ear	3815	KIT	ORPHA:2884
HP:0000598	Abnormality of the ear	210	ALAD	ORPHA:100924
HP:0000598	Abnormality of the ear	9197	SLC33A1	OMIM:614482
HP:0000598	Abnormality of the ear	51780	KDM3B	OMIM:618846
HP:0000598	Abnormality of the ear	23592	LEMD3	ORPHA:1306
HP:0000598	Abnormality of the ear	4848	CNOT2	OMIM:618608
HP:0000598	Abnormality of the ear	23404	EXOSC2	OMIM:617763
HP:0000598	Abnormality of the ear	2036	EPB41L1	OMIM:614257
HP:0000598	Abnormality of the ear	80169	CTC1	ORPHA:1775
HP:0000598	Abnormality of the ear	55651	NHP2	ORPHA:1775
HP:0000598	Abnormality of the ear	55135	WRAP53	ORPHA:1775
HP:0000598	Abnormality of the ear	51750	RTEL1	ORPHA:1775
HP:0000598	Abnormality of the ear	7012	TERC	ORPHA:1775
HP:0000598	Abnormality of the ear	55505	NOP10	ORPHA:1775
HP:0000598	Abnormality of the ear	5073	PARN	ORPHA:1775
HP:0000598	Abnormality of the ear	1736	DKC1	ORPHA:1775
HP:0000598	Abnormality of the ear	7298	TYMS	ORPHA:1775
HP:0000598	Abnormality of the ear	55753	OGDHL	OMIM:619701
HP:0000598	Abnormality of the ear	7372	UMPS	ORPHA:30
HP:0000598	Abnormality of the ear	72	ACTG2	ORPHA:2604
HP:0000598	Abnormality of the ear	55780	ERMARD	ORPHA:75857
HP:0000598	Abnormality of the ear	3039	HBA1	ORPHA:98791
HP:0000598	Abnormality of the ear	3040	HBA2	ORPHA:98791
HP:0000598	Abnormality of the ear	134701	RIPPLY2	ORPHA:2311
HP:0000598	Abnormality of the ear	10683	DLL3	ORPHA:2311
HP:0000598	Abnormality of the ear	3955	LFNG	ORPHA:2311
HP:0000598	Abnormality of the ear	84667	HES7	ORPHA:2311
HP:0000598	Abnormality of the ear	145873	MESP2	ORPHA:2311
HP:0000598	Abnormality of the ear	51524	TMEM138	ORPHA:2318
HP:0000598	Abnormality of the ear	23090	ZNF423	ORPHA:2318
HP:0000598	Abnormality of the ear	1501	CTNND2	ORPHA:281
HP:0000598	Abnormality of the ear	9037	SEMA5A	ORPHA:281
HP:0000598	Abnormality of the ear	10716	TBR1	ORPHA:1617
HP:0000598	Abnormality of the ear	25914	RTTN	ORPHA:468631
HP:0000598	Abnormality of the ear	5495	PPM1B	ORPHA:163693
HP:0000598	Abnormality of the ear	6519	SLC3A1	ORPHA:163693
HP:0000598	Abnormality of the ear	9581	PREPL	ORPHA:163693
HP:0000598	Abnormality of the ear	79823	CAMKMT	ORPHA:163693
HP:0000598	Abnormality of the ear	64131	XYLT1	ORPHA:1425
HP:0000598	Abnormality of the ear	124583	CANT1	ORPHA:1425
HP:0000598	Abnormality of the ear	55790	CSGALNACT1	ORPHA:1425
HP:0000598	Abnormality of the ear	3239	HOXD13	ORPHA:887
HP:0000598	Abnormality of the ear	28981	IFT81	OMIM:617895
HP:0000598	Abnormality of the ear	7360	UGP2	OMIM:618744
HP:0000598	Abnormality of the ear	55209	SETD5	ORPHA:404440
HP:0000598	Abnormality of the ear	55209	SETD5	OMIM:615761
HP:0000598	Abnormality of the ear	283489	CHAMP1	OMIM:616579
HP:0000598	Abnormality of the ear	818	CAMK2G	OMIM:618522
HP:0000598	Abnormality of the ear	10606	PAICS	OMIM:619859
HP:0000598	Abnormality of the ear	81857	MED25	ORPHA:464738
HP:0000598	Abnormality of the ear	81857	MED25	OMIM:616449
HP:0000598	Abnormality of the ear	55681	SCYL2	OMIM:618766
HP:0000598	Abnormality of the ear	55768	NGLY1	OMIM:615273
HP:0000598	Abnormality of the ear	5593	PRKG2	OMIM:619636
HP:0000598	Abnormality of the ear	79770	TXNDC15	OMIM:619879
HP:0000598	Abnormality of the ear	8516	ITGA8	ORPHA:1848
HP:0000598	Abnormality of the ear	8516	ITGA8	OMIM:191830
HP:0000598	Abnormality of the ear	26281	FGF20	ORPHA:1848
HP:0000598	Abnormality of the ear	2674	GFRA1	ORPHA:1848
HP:0000598	Abnormality of the ear	7484	WNT9B	ORPHA:1848
HP:0000598	Abnormality of the ear	253959	RALGAPA1	OMIM:618797
HP:0000598	Abnormality of the ear	56098	PCDHGC4	OMIM:619880
HP:0000598	Abnormality of the ear	54916	TMEM260	OMIM:617478
HP:0000598	Abnormality of the ear	23499	MACF1	OMIM:618325
HP:0000598	Abnormality of the ear	1917	EEF1A2	OMIM:616393
HP:0000598	Abnormality of the ear	60529	ALX4	ORPHA:228390
HP:0000598	Abnormality of the ear	60529	ALX4	OMIM:613451
HP:0000598	Abnormality of the ear	26173	INTS1	OMIM:618571
HP:0000598	Abnormality of the ear	1523	CUX1	OMIM:618330
HP:0000598	Abnormality of the ear	4212	MEIS2	ORPHA:261190
HP:0000598	Abnormality of the ear	4212	MEIS2	OMIM:600987
HP:0000598	Abnormality of the ear	51574	LARP7	OMIM:615071
HP:0000598	Abnormality of the ear	51574	LARP7	ORPHA:319671
HP:0000598	Abnormality of the ear	8473	OGT	OMIM:300997
HP:0000598	Abnormality of the ear	56623	INPP5E	OMIM:213300
HP:0000598	Abnormality of the ear	56623	INPP5E	ORPHA:1454
HP:0000598	Abnormality of the ear	56623	INPP5E	ORPHA:475
HP:0000598	Abnormality of the ear	4703	NEB	OMIM:256030
HP:0000598	Abnormality of the ear	4703	NEB	ORPHA:171433
HP:0000598	Abnormality of the ear	4703	NEB	ORPHA:171430
HP:0000598	Abnormality of the ear	2972	BRF1	ORPHA:444072
HP:0000598	Abnormality of the ear	2972	BRF1	OMIM:616202
HP:0000598	Abnormality of the ear	91754	NEK9	OMIM:617022
HP:0000598	Abnormality of the ear	5649	RELN	ORPHA:89844
HP:0000598	Abnormality of the ear	51114	ZDHHC9	ORPHA:776
HP:0000598	Abnormality of the ear	65109	UPF3B	ORPHA:776
HP:0000598	Abnormality of the ear	23111	SPART	ORPHA:101000
HP:0000598	Abnormality of the ear	51729	WBP11	OMIM:619227
HP:0000598	Abnormality of the ear	50801	KCNK4	OMIM:618381
HP:0000598	Abnormality of the ear	91875	TTC5	OMIM:619244
HP:0000598	Abnormality of the ear	199221	DZIP1L	ORPHA:731
HP:0000598	Abnormality of the ear	5314	PKHD1	ORPHA:731
HP:0000598	Abnormality of the ear	10020	GNE	ORPHA:3166
HP:0000598	Abnormality of the ear	10020	GNE	OMIM:269921
HP:0000598	Abnormality of the ear	9897	WASHC5	ORPHA:7
HP:0000598	Abnormality of the ear	9897	WASHC5	OMIM:220210
HP:0000598	Abnormality of the ear	28952	CCDC22	ORPHA:7
HP:0000598	Abnormality of the ear	51626	DYNC2LI1	OMIM:617088
HP:0000598	Abnormality of the ear	118429	ANTXR2	OMIM:228600
HP:0000598	Abnormality of the ear	168667	BMPER	OMIM:608022
HP:0000598	Abnormality of the ear	2294	FOXF1	OMIM:265380
HP:0000598	Abnormality of the ear	5393	EXOSC9	OMIM:618065
HP:0000598	Abnormality of the ear	26153	KIF26A	OMIM:620156
HP:0000598	Abnormality of the ear	1509	CTSD	OMIM:610127
HP:0000598	Abnormality of the ear	23325	WASHC4	OMIM:615817
HP:0000598	Abnormality of the ear	55148	UBR7	OMIM:619189
HP:0000598	Abnormality of the ear	23545	ATP6V0A2	OMIM:278250
HP:0000598	Abnormality of the ear	23545	ATP6V0A2	OMIM:219200
HP:0000598	Abnormality of the ear	23545	ATP6V0A2	ORPHA:2834
HP:0000598	Abnormality of the ear	23545	ATP6V0A2	ORPHA:357074
HP:0000598	Abnormality of the ear	79867	TCTN2	OMIM:613885
HP:0000598	Abnormality of the ear	79867	TCTN2	ORPHA:475
HP:0000598	Abnormality of the ear	63894	VIPAS39	OMIM:613404
HP:0000598	Abnormality of the ear	79053	ALG8	OMIM:608104
HP:0000598	Abnormality of the ear	79053	ALG8	ORPHA:79325
HP:0000598	Abnormality of the ear	10801	SEPTIN9	OMIM:162100
HP:0000598	Abnormality of the ear	26053	AUTS2	OMIM:615834
HP:0000598	Abnormality of the ear	26053	AUTS2	ORPHA:352490
HP:0000598	Abnormality of the ear	10013	HDAC6	ORPHA:163966
HP:0000598	Abnormality of the ear	10013	HDAC6	OMIM:300863
HP:0000598	Abnormality of the ear	23137	SMC5	OMIM:620185
HP:0000598	Abnormality of the ear	158	ADSL	ORPHA:46
HP:0000598	Abnormality of the ear	158	ADSL	OMIM:103050
HP:0000598	Abnormality of the ear	6509	SLC1A4	ORPHA:447997
HP:0000598	Abnormality of the ear	4208	MEF2C	OMIM:613443
HP:0000598	Abnormality of the ear	7407	VARS1	OMIM:617802
HP:0000598	Abnormality of the ear	10535	RNASEH2A	ORPHA:51
HP:0000598	Abnormality of the ear	10535	RNASEH2A	OMIM:610333
HP:0000598	Abnormality of the ear	84153	RNASEH2C	ORPHA:51
HP:0000598	Abnormality of the ear	25939	SAMHD1	ORPHA:51
HP:0000598	Abnormality of the ear	79621	RNASEH2B	ORPHA:51
HP:0000598	Abnormality of the ear	103	ADAR	ORPHA:51
HP:0000598	Abnormality of the ear	11277	TREX1	ORPHA:51
HP:0000598	Abnormality of the ear	100147744	RNU7-1	ORPHA:51
HP:0000598	Abnormality of the ear	134353	LSM11	ORPHA:51
HP:0000598	Abnormality of the ear	64135	IFIH1	ORPHA:51
HP:0000598	Abnormality of the ear	10159	ATP6AP2	OMIM:301045
HP:0000598	Abnormality of the ear	27238	GPKOW	ORPHA:2570
HP:0000598	Abnormality of the ear	22856	CHSY1	ORPHA:363417
HP:0000598	Abnormality of the ear	7547	ZIC3	OMIM:306955
HP:0000598	Abnormality of the ear	57211	ADGRG6	OMIM:616503
HP:0000598	Abnormality of the ear	3759	KCNJ2	OMIM:170390
HP:0000598	Abnormality of the ear	3759	KCNJ2	ORPHA:37553
HP:0000598	Abnormality of the ear	55764	IFT122	OMIM:218330
HP:0000598	Abnormality of the ear	23322	RPGRIP1L	ORPHA:1454
HP:0000598	Abnormality of the ear	57545	CC2D2A	ORPHA:1454
HP:0000598	Abnormality of the ear	55969	RAB5IF	OMIM:616994
HP:0000598	Abnormality of the ear	6182	MRPL12	OMIM:618951
HP:0000598	Abnormality of the ear	84628	NTNG2	OMIM:618718
HP:0000598	Abnormality of the ear	9321	TRIP11	OMIM:200600
HP:0000598	Abnormality of the ear	84700	MYO18B	OMIM:616549
HP:0000598	Abnormality of the ear	79583	TMEM231	ORPHA:2752
HP:0000598	Abnormality of the ear	529	ATP6V1E1	OMIM:617402
HP:0000598	Abnormality of the ear	529	ATP6V1E1	ORPHA:357074
HP:0000598	Abnormality of the ear	84148	KAT8	OMIM:618974
HP:0000598	Abnormality of the ear	10054	UBA2	OMIM:619959
HP:0000598	Abnormality of the ear	64220	STRA6	OMIM:601186
HP:0000598	Abnormality of the ear	64220	STRA6	ORPHA:2470
HP:0000598	Abnormality of the ear	6536	SLC6A9	OMIM:617301
HP:0000598	Abnormality of the ear	28960	DCPS	OMIM:616459
HP:0000598	Abnormality of the ear	79184	BRCC3	ORPHA:280679
HP:0000598	Abnormality of the ear	54968	TMEM70	OMIM:614052
HP:0000598	Abnormality of the ear	54968	TMEM70	ORPHA:1194
HP:0000598	Abnormality of the ear	84314	TMEM107	OMIM:617563
HP:0000598	Abnormality of the ear	79600	TCTN1	ORPHA:475
HP:0000598	Abnormality of the ear	200894	ARL13B	ORPHA:475
HP:0000598	Abnormality of the ear	9731	CEP104	ORPHA:475
HP:0000598	Abnormality of the ear	23247	KATNIP	ORPHA:475
HP:0000598	Abnormality of the ear	219854	TMEM218	ORPHA:475
HP:0000598	Abnormality of the ear	95681	CEP41	ORPHA:475
HP:0000598	Abnormality of the ear	10464	PIBF1	ORPHA:475
HP:0000598	Abnormality of the ear	80210	ARMC9	ORPHA:475
HP:0000598	Abnormality of the ear	25776	CBY1	ORPHA:475
HP:0000598	Abnormality of the ear	27077	B9D1	ORPHA:475
HP:0000598	Abnormality of the ear	7862	BRPF1	OMIM:617333
HP:0000598	Abnormality of the ear	5048	PAFAH1B1	ORPHA:217385
HP:0000598	Abnormality of the ear	7531	YWHAE	ORPHA:217385
HP:0000598	Abnormality of the ear	9841	ZBTB24	OMIM:614069
HP:0000598	Abnormality of the ear	9841	ZBTB24	ORPHA:2268
HP:0000598	Abnormality of the ear	51098	IFT52	OMIM:617102
HP:0000598	Abnormality of the ear	9928	KIF14	OMIM:616258
HP:0000598	Abnormality of the ear	2683	B4GALT1	ORPHA:79332
HP:0000598	Abnormality of the ear	2556	GABRA3	OMIM:301091
HP:0000598	Abnormality of the ear	23162	MAPK8IP3	OMIM:618443
HP:0000598	Abnormality of the ear	10516	FBLN5	ORPHA:90348
HP:0000598	Abnormality of the ear	1107	CHD3	OMIM:618205
HP:0000598	Abnormality of the ear	29929	ALG6	ORPHA:79320
HP:0000598	Abnormality of the ear	54361	WNT4	OMIM:611812
HP:0000598	Abnormality of the ear	3658	IREB2	OMIM:618451
HP:0000598	Abnormality of the ear	29968	PSAT1	OMIM:616038
HP:0000598	Abnormality of the ear	79868	ALG13	OMIM:300884
HP:0000598	Abnormality of the ear	2710	GK	OMIM:307030
HP:0000598	Abnormality of the ear	1725	DHPS	OMIM:618480
HP:0000598	Abnormality of the ear	9509	ADAMTS2	OMIM:225410
HP:0000598	Abnormality of the ear	10524	KAT5	OMIM:619103
HP:0000598	Abnormality of the ear	3977	LIFR	OMIM:601559
HP:0000598	Abnormality of the ear	9244	CRLF1	OMIM:272430
HP:0000598	Abnormality of the ear	10653	SPINT2	OMIM:270420
HP:0000598	Abnormality of the ear	1759	DNM1	OMIM:620352
HP:0000598	Abnormality of the ear	5528	PPP2R5D	ORPHA:457279
HP:0000598	Abnormality of the ear	2733	GLE1	OMIM:611890
HP:0000598	Abnormality of the ear	129285	PPP1R21	OMIM:619383
HP:0000598	Abnormality of the ear	221692	PHACTR1	OMIM:618298
HP:0000598	Abnormality of the ear	3480	IGF1R	OMIM:270450
HP:0000598	Abnormality of the ear	83483	PLVAP	OMIM:618183
HP:0000598	Abnormality of the ear	10128	LRPPRC	OMIM:220111
HP:0000598	Abnormality of the ear	55503	TRPV6	OMIM:618188
HP:0000598	Abnormality of the ear	8854	ALDH1A2	OMIM:620025
HP:0000598	Abnormality of the ear	10274	STAG1	ORPHA:502434
HP:0000598	Abnormality of the ear	118987	PDZD8	OMIM:620021
HP:0000598	Abnormality of the ear	58	ACTA1	ORPHA:171433
HP:0000598	Abnormality of the ear	58	ACTA1	ORPHA:171430
HP:0000598	Abnormality of the ear	10324	KLHL41	ORPHA:171433
HP:0000598	Abnormality of the ear	10324	KLHL41	ORPHA:171430
HP:0000598	Abnormality of the ear	7170	TPM3	ORPHA:171433
HP:0000598	Abnormality of the ear	9442	MED27	OMIM:619286
HP:0000598	Abnormality of the ear	131377	KLHL40	ORPHA:171430
HP:0000598	Abnormality of the ear	56203	LMOD3	ORPHA:171430
HP:0000598	Abnormality of the ear	22858	CILK1	OMIM:612651
HP:0000598	Abnormality of the ear	3899	AFF3	OMIM:619297
HP:0000598	Abnormality of the ear	55107	ANO1	OMIM:620045
HP:0000598	Abnormality of the ear	4524	MTHFR	ORPHA:563612
HP:0000598	Abnormality of the ear	57216	VANGL2	ORPHA:563612
HP:0000598	Abnormality of the ear	3070	HELLS	ORPHA:2268
HP:0000598	Abnormality of the ear	10352	WARS2	ORPHA:572798
HP:0000598	Abnormality of the ear	51021	MRPS16	OMIM:610498
HP:0000598	Abnormality of the ear	2752	GLUL	OMIM:610015
HP:0000598	Abnormality of the ear	657	BMPR1A	ORPHA:79076
HP:0000598	Abnormality of the ear	23265	EXOC7	OMIM:619072
HP:0000598	Abnormality of the ear	1802	DPH2	OMIM:620062
HP:0000598	Abnormality of the ear	55165	CEP55	OMIM:236500
HP:0000598	Abnormality of the ear	55027	HEATR3	OMIM:620072
HP:0000598	Abnormality of the ear	5324	PLAG1	ORPHA:397590
HP:0000598	Abnormality of the ear	8091	HMGA2	ORPHA:397590
HP:0000598	Abnormality of the ear	471	ATIC	OMIM:608688
HP:0000598	Abnormality of the ear	471	ATIC	ORPHA:250977
HP:0000598	Abnormality of the ear	5915	RARB	ORPHA:2470
HP:0000598	Abnormality of the ear	9775	EIF4A3	OMIM:268305
HP:0000598	Abnormality of the ear	667	DST	OMIM:614653
HP:0000598	Abnormality of the ear	1144	CHRND	OMIM:253290
HP:0000598	Abnormality of the ear	6888	TALDO1	OMIM:606003
HP:0000598	Abnormality of the ear	3720	JARID2	OMIM:620098
HP:0000598	Abnormality of the ear	9698	PUM1	OMIM:617931
HP:0000598	Abnormality of the ear	1063	CENPF	OMIM:243605
HP:0000598	Abnormality of the ear	54551	MAGEL2	OMIM:615547
HP:0000598	Abnormality of the ear	57572	DOCK6	OMIM:614219
HP:0000598	Abnormality of the ear	29980	DONSON	OMIM:251230
HP:0000598	Abnormality of the ear	490	ATP2B1	OMIM:619910
HP:0000598	Abnormality of the ear	54676	GTPBP2	OMIM:617988
HP:0000598	Abnormality of the ear	100506658	OCLN	OMIM:251290
HP:0000598	Abnormality of the ear	5307	PITX1	OMIM:119800
HP:0000598	Abnormality of the ear	55331	ACER3	OMIM:617762
HP:0000598	Abnormality of the ear	5340	PLG	ORPHA:722
HP:0000598	Abnormality of the ear	5994	RFXAP	ORPHA:572
HP:0000598	Abnormality of the ear	4261	CIITA	ORPHA:572
HP:0000598	Abnormality of the ear	5993	RFX5	ORPHA:572
HP:0000598	Abnormality of the ear	8625	RFXANK	ORPHA:572
HP:0000598	Abnormality of the ear	11160	ERLIN2	ORPHA:280384
HP:0000598	Abnormality of the ear	11160	ERLIN2	ORPHA:209951
HP:0000598	Abnormality of the ear	9488	PIGB	OMIM:618580
HP:0000598	Abnormality of the ear	8450	CUL4B	OMIM:300354
HP:0000598	Abnormality of the ear	26235	FBXL4	OMIM:615471
HP:0000598	Abnormality of the ear	123606	NIPA1	ORPHA:261183
HP:0000598	Abnormality of the ear	7283	TUBG1	ORPHA:261183
HP:0000598	Abnormality of the ear	81614	NIPA2	ORPHA:261183
HP:0000598	Abnormality of the ear	51621	KLF13	OMIM:612001
HP:0000598	Abnormality of the ear	10765	KDM5B	OMIM:618109
HP:0000598	Abnormality of the ear	256297	PTF1A	OMIM:609069
HP:0000598	Abnormality of the ear	23118	TAB2	ORPHA:228410
HP:0000598	Abnormality of the ear	89910	UBE3B	OMIM:244450
HP:0000598	Abnormality of the ear	6812	STXBP1	ORPHA:495818
HP:0000598	Abnormality of the ear	1836	SLC26A2	ORPHA:93307
HP:0000598	Abnormality of the ear	30008	EFEMP2	OMIM:614437
HP:0000598	Abnormality of the ear	271	AMPD2	OMIM:615809
HP:0000598	Abnormality of the ear	56975	FAM20C	OMIM:259775
HP:0000598	Abnormality of the ear	8289	ARID1A	OMIM:614607
HP:0000598	Abnormality of the ear	5351	PLOD1	ORPHA:1900
HP:0000598	Abnormality of the ear	10943	MSL3	OMIM:301032
HP:0000598	Abnormality of the ear	55697	VAC14	ORPHA:3472
HP:0000598	Abnormality of the ear	4330	MN1	OMIM:618774
HP:0000598	Abnormality of the ear	9758	FRMPD4	OMIM:300983
HP:0000598	Abnormality of the ear	80776	B9D2	OMIM:614175
HP:0000598	Abnormality of the ear	79813	EHMT1	OMIM:610253
HP:0000598	Abnormality of the ear	8558	CDK10	OMIM:617694
HP:0000598	Abnormality of the ear	10472	ZBTB18	OMIM:612337
HP:0000598	Abnormality of the ear	23065	EMC1	ORPHA:480898
HP:0000598	Abnormality of the ear	7476	WNT7A	OMIM:276820
HP:0000598	Abnormality of the ear	85440	DOCK7	OMIM:615859
HP:0000598	Abnormality of the ear	219844	HYLS1	OMIM:236680
HP:0000598	Abnormality of the ear	23299	BICD2	OMIM:618291
HP:0000598	Abnormality of the ear	2108	ETFA	OMIM:231680
HP:0000598	Abnormality of the ear	2109	ETFB	OMIM:231680
HP:0000598	Abnormality of the ear	2110	ETFDH	OMIM:231680
HP:0000598	Abnormality of the ear	668	FOXL2	OMIM:110100
HP:0000598	Abnormality of the ear	1718	DHCR24	OMIM:602398
HP:0000598	Abnormality of the ear	6909	TBX2	OMIM:618223
HP:0000598	Abnormality of the ear	10664	CTCF	ORPHA:363611
HP:0000598	Abnormality of the ear	134218	DNAJC21	OMIM:617052
HP:0000598	Abnormality of the ear	6711	SPTBN1	OMIM:619475
HP:0000598	Abnormality of the ear	9780	PIEZO1	OMIM:616843
HP:0000598	Abnormality of the ear	5361	PLXNA1	OMIM:619955
HP:0000598	Abnormality of the ear	11198	SUPT16H	OMIM:619480
HP:0000598	Abnormality of the ear	1457	CSNK2A1	OMIM:617062
HP:0000598	Abnormality of the ear	53335	BCL11A	OMIM:617101
HP:0000598	Abnormality of the ear	23291	FBXW11	OMIM:618914
HP:0000598	Abnormality of the ear	79971	WLS	OMIM:619648
HP:0000598	Abnormality of the ear	55252	ASXL2	OMIM:617190
HP:0000598	Abnormality of the ear	84720	PIGO	ORPHA:247262
HP:0000598	Abnormality of the ear	93210	PGAP3	ORPHA:247262
HP:0000598	Abnormality of the ear	284098	PIGW	ORPHA:247262
HP:0000598	Abnormality of the ear	5455	POU3F3	OMIM:618604
HP:0000598	Abnormality of the ear	1108	CHD4	OMIM:617159
HP:0000598	Abnormality of the ear	23036	ZNF292	OMIM:619188
HP:0000598	Abnormality of the ear	10075	HUWE1	OMIM:309590
HP:0000598	Abnormality of the ear	3187	HNRNPH1	OMIM:620083
HP:0000598	Abnormality of the ear	6611	SMS	ORPHA:3063
HP:0000598	Abnormality of the ear	253738	EBF3	OMIM:617330
HP:0000598	Abnormality of the ear	5792	PTPRF	OMIM:616001
HP:0000598	Abnormality of the ear	284252	KCTD1	ORPHA:2036
HP:0000598	Abnormality of the ear	284252	KCTD1	OMIM:181270
HP:0000598	Abnormality of the ear	91179	SCARF2	OMIM:600920
HP:0000598	Abnormality of the ear	7750	ZMYM2	OMIM:619522
HP:0000598	Abnormality of the ear	27245	AHDC1	ORPHA:412069
HP:0000598	Abnormality of the ear	27245	AHDC1	OMIM:615829
HP:0000598	Abnormality of the ear	8241	RBM10	ORPHA:2886
HP:0000598	Abnormality of the ear	1281	COL3A1	OMIM:130050
HP:0000598	Abnormality of the ear	11285	B4GALT7	OMIM:130070
HP:0000598	Abnormality of the ear	55628	ZNF407	OMIM:619557
HP:0000598	Abnormality of the ear	545	ATR	ORPHA:808
HP:0000598	Abnormality of the ear	5932	RBBP8	ORPHA:808
HP:0000598	Abnormality of the ear	79902	NUP85	ORPHA:808
HP:0000598	Abnormality of the ear	84126	ATRIP	ORPHA:808
HP:0000598	Abnormality of the ear	55835	CENPJ	ORPHA:808
HP:0000598	Abnormality of the ear	10293	TRAIP	ORPHA:808
HP:0000598	Abnormality of the ear	22995	CEP152	ORPHA:808
HP:0000598	Abnormality of the ear	10733	PLK4	ORPHA:808
HP:0000598	Abnormality of the ear	9757	KMT2B	OMIM:619934
HP:0000598	Abnormality of the ear	919	CD247	ORPHA:169160
HP:0000598	Abnormality of the ear	64421	DCLRE1C	ORPHA:275
HP:0000598	Abnormality of the ear	64421	DCLRE1C	OMIM:602450
HP:0000598	Abnormality of the ear	3561	IL2RG	OMIM:312863
HP:0000598	Abnormality of the ear	10312	TCIRG1	ORPHA:667
HP:0000598	Abnormality of the ear	1186	CLCN7	ORPHA:667
HP:0000598	Abnormality of the ear	29887	SNX10	ORPHA:667
HP:0000598	Abnormality of the ear	8600	TNFSF11	ORPHA:667
HP:0000598	Abnormality of the ear	11011	TLK2	OMIM:618050
HP:0000598	Abnormality of the ear	641	BLM	ORPHA:125
HP:0000598	Abnormality of the ear	5896	RAG1	OMIM:601457
HP:0000598	Abnormality of the ear	5897	RAG2	OMIM:601457
HP:0000598	Abnormality of the ear	7852	CXCR4	ORPHA:51636
HP:0000598	Abnormality of the ear	165918	RNF168	ORPHA:420741
HP:0000598	Abnormality of the ear	1536	CYBB	ORPHA:379
HP:0000598	Abnormality of the ear	4688	NCF2	ORPHA:379
HP:0000598	Abnormality of the ear	1535	CYBA	ORPHA:379
HP:0000598	Abnormality of the ear	4689	NCF4	ORPHA:379
HP:0000598	Abnormality of the ear	79415	CYBC1	ORPHA:379
HP:0000598	Abnormality of the ear	1991	ELANE	ORPHA:2686
HP:0000598	Abnormality of the ear	7456	WIPF1	ORPHA:906
HP:0000598	Abnormality of the ear	6890	TAP1	OMIM:604571
HP:0000598	Abnormality of the ear	6891	TAP2	OMIM:604571
HP:0000598	Abnormality of the ear	6892	TAPBP	OMIM:604571
HP:0000598	Abnormality of the ear	25790	CFAP45	OMIM:619608
HP:0000598	Abnormality of the ear	4952	OCRL	ORPHA:534
HP:0000598	Abnormality of the ear	23483	TGDS	ORPHA:1388
HP:0000598	Abnormality of the ear	64359	NXN	ORPHA:1507
HP:0000598	Abnormality of the ear	4920	ROR2	ORPHA:1507
HP:0000598	Abnormality of the ear	8604	SLC25A12	OMIM:612949
HP:0000598	Abnormality of the ear	9496	TBX4	ORPHA:261279
HP:0000598	Abnormality of the ear	7161	TP73	OMIM:619466
HP:0000598	Abnormality of the ear	146206	CARMIL2	OMIM:618131
HP:0000598	Abnormality of the ear	860	RUNX2	ORPHA:1452
HP:0000598	Abnormality of the ear	4790	NFKB1	ORPHA:1572
HP:0000598	Abnormality of the ear	8742	TNFSF12	ORPHA:1572
HP:0000598	Abnormality of the ear	931	MS4A1	ORPHA:1572
HP:0000598	Abnormality of the ear	975	CD81	ORPHA:1572
HP:0000598	Abnormality of the ear	204	AK2	ORPHA:33355
HP:0000598	Abnormality of the ear	80267	EDEM3	OMIM:619493
HP:0000598	Abnormality of the ear	94005	PIGS	OMIM:618143
HP:0000598	Abnormality of the ear	5925	RB1	ORPHA:1587
HP:0000598	Abnormality of the ear	9719	ADAMTSL2	OMIM:231050
HP:0000598	Abnormality of the ear	1000	CDH2	OMIM:618929
HP:0000598	Abnormality of the ear	10220	GDF11	OMIM:619122
HP:0000598	Abnormality of the ear	129563	DIS3L2	ORPHA:2849
HP:0000598	Abnormality of the ear	92002	CCNQ	ORPHA:140952
HP:0000598	Abnormality of the ear	92002	CCNQ	OMIM:300707
HP:0000598	Abnormality of the ear	113246	C12orf57	OMIM:218340
HP:0000598	Abnormality of the ear	1289	COL5A1	OMIM:130000
HP:0000598	Abnormality of the ear	2121	EVC	OMIM:193530
HP:0000598	Abnormality of the ear	132884	EVC2	OMIM:193530
HP:0000598	Abnormality of the ear	23431	AP4E1	OMIM:613744
HP:0000598	Abnormality of the ear	9230	RAB11B	OMIM:617807
HP:0000598	Abnormality of the ear	10771	ZMYND11	OMIM:616083
HP:0000598	Abnormality of the ear	4774	NFIA	OMIM:613735
HP:0000598	Abnormality of the ear	55617	TASP1	OMIM:618950
HP:0000598	Abnormality of the ear	1376	CPT2	OMIM:608836
HP:0000598	Abnormality of the ear	727857	BHLHA9	ORPHA:3329
HP:0000598	Abnormality of the ear	738	VPS51	OMIM:618606
HP:0000598	Abnormality of the ear	93986	FOXP2	ORPHA:209908
HP:0000598	Abnormality of the ear	1147	CHUK	OMIM:619339
HP:0000598	Abnormality of the ear	1656	DDX6	OMIM:618653
HP:0000598	Abnormality of the ear	8621	CDK13	OMIM:617360
HP:0000598	Abnormality of the ear	5277	PIGA	OMIM:300868
HP:0000598	Abnormality of the ear	7043	TGFB3	OMIM:615582
HP:0000598	Abnormality of the ear	158326	FREM1	OMIM:608980
HP:0000598	Abnormality of the ear	153562	MARVELD2	OMIM:610153
HP:0000598	Abnormality of the ear	107	ADCY1	OMIM:610154
HP:0000598	Abnormality of the ear	3082	HGF	OMIM:608265
HP:0000598	Abnormality of the ear	11113	CIT	OMIM:617090
HP:0000598	Abnormality of the ear	11253	MAN1B1	ORPHA:397941
HP:0000598	Abnormality of the ear	11253	MAN1B1	OMIM:614202
HP:0000598	Abnormality of the ear	27316	RBMX	OMIM:300238
HP:0000598	Abnormality of the ear	340533	NEXMIF	OMIM:300912
HP:0000598	Abnormality of the ear	1139	CHRNA7	ORPHA:199318
HP:0000598	Abnormality of the ear	23135	KDM6B	OMIM:618505
HP:0000598	Abnormality of the ear	781	CACNA2D1	OMIM:620149
HP:0000598	Abnormality of the ear	91801	ALKBH8	OMIM:618504
HP:0000598	Abnormality of the ear	84942	WDR73	OMIM:251300
HP:0000598	Abnormality of the ear	84942	WDR73	ORPHA:2065
HP:0000598	Abnormality of the ear	1134	CHRNA1	OMIM:608930
HP:0000598	Abnormality of the ear	4047	LSS	ORPHA:2850
HP:0000598	Abnormality of the ear	197	AHSG	ORPHA:2850
HP:0000598	Abnormality of the ear	3694	ITGB6	ORPHA:2850
HP:0000598	Abnormality of the ear	10084	PQBP1	ORPHA:93950
HP:0000598	Abnormality of the ear	10084	PQBP1	ORPHA:93945
HP:0000598	Abnormality of the ear	10084	PQBP1	OMIM:309500
HP:0000598	Abnormality of the ear	4983	OPHN1	OMIM:300486
HP:0000598	Abnormality of the ear	10479	SLC9A6	OMIM:300243
HP:0000598	Abnormality of the ear	10479	SLC9A6	ORPHA:85278
HP:0000598	Abnormality of the ear	10300	KATNB1	OMIM:616212
HP:0000598	Abnormality of the ear	7552	ZNF711	OMIM:300803
HP:0000598	Abnormality of the ear	10730	YME1L1	OMIM:617302
HP:0000598	Abnormality of the ear	55690	PACS1	OMIM:615009
HP:0000598	Abnormality of the ear	55690	PACS1	ORPHA:329224
HP:0000598	Abnormality of the ear	80055	PGAP1	OMIM:615802
HP:0000598	Abnormality of the ear	84520	GON7	OMIM:619603
HP:0000598	Abnormality of the ear	6023	RMRP	ORPHA:175
HP:0000598	Abnormality of the ear	25885	POLR1A	OMIM:616462
HP:0000598	Abnormality of the ear	113189	CHST14	ORPHA:2953
HP:0000598	Abnormality of the ear	29940	DSE	ORPHA:2953
HP:0000598	Abnormality of the ear	9326	ZNHIT3	ORPHA:2836
HP:0000598	Abnormality of the ear	547	KIF1A	ORPHA:2836
HP:0000598	Abnormality of the ear	114034	TOE1	OMIM:614969
HP:0000598	Abnormality of the ear	114034	TOE1	ORPHA:284339
HP:0000598	Abnormality of the ear	83550	GPR101	ORPHA:963
HP:0000598	Abnormality of the ear	9049	AIP	ORPHA:963
HP:0000598	Abnormality of the ear	10555	AGPAT2	OMIM:608594
HP:0000598	Abnormality of the ear	8726	EED	OMIM:617561
HP:0000598	Abnormality of the ear	8726	EED	ORPHA:3447
HP:0000598	Abnormality of the ear	1193	CLIC2	ORPHA:324410
HP:0000598	Abnormality of the ear	1193	CLIC2	OMIM:300886
HP:0000598	Abnormality of the ear	55714	TENM3	OMIM:615145
HP:0000598	Abnormality of the ear	8036	SHOC2	ORPHA:2701
HP:0000598	Abnormality of the ear	5500	PPP1CB	ORPHA:2701
HP:0000598	Abnormality of the ear	165	AEBP1	ORPHA:536532
HP:0000598	Abnormality of the ear	165	AEBP1	OMIM:618000
HP:0000598	Abnormality of the ear	5373	PMM2	OMIM:212065
HP:0000598	Abnormality of the ear	5373	PMM2	ORPHA:79318
HP:0000598	Abnormality of the ear	26227	PHGDH	OMIM:256520
HP:0000598	Abnormality of the ear	29081	METTL5	OMIM:618665
HP:0000598	Abnormality of the ear	388662	SLC6A17	ORPHA:457212
HP:0000598	Abnormality of the ear	388662	SLC6A17	OMIM:616269
HP:0000598	Abnormality of the ear	55773	TBC1D23	OMIM:617695
HP:0000598	Abnormality of the ear	5063	PAK3	OMIM:300558
HP:0000598	Abnormality of the ear	51633	OTUD6B	OMIM:617452
HP:0000598	Abnormality of the ear	51633	OTUD6B	ORPHA:505237
HP:0000598	Abnormality of the ear	116115	ZNF526	OMIM:619877
HP:0000598	Abnormality of the ear	81031	SLC2A10	ORPHA:3342
HP:0000598	Abnormality of the ear	81031	SLC2A10	OMIM:208050
HP:0000598	Abnormality of the ear	23345	SYNE1	ORPHA:319332
HP:0000598	Abnormality of the ear	3675	ITGA3	OMIM:614748
HP:0000598	Abnormality of the ear	79759	ZNF668	OMIM:620194
HP:0000598	Abnormality of the ear	63895	PIEZO2	ORPHA:1154
HP:0000598	Abnormality of the ear	8242	KDM5C	OMIM:300534
HP:0000598	Abnormality of the ear	254065	BRWD3	OMIM:300659
HP:0000598	Abnormality of the ear	2146	EZH2	OMIM:277590
HP:0000598	Abnormality of the ear	2146	EZH2	ORPHA:3447
HP:0000598	Abnormality of the ear	23512	SUZ12	ORPHA:3447
HP:0000598	Abnormality of the ear	10195	ALG3	OMIM:601110
HP:0000598	Abnormality of the ear	29123	ANKRD11	OMIM:148050
HP:0000598	Abnormality of the ear	29123	ANKRD11	ORPHA:2332
HP:0000598	Abnormality of the ear	58497	PRUNE1	OMIM:617481
HP:0000598	Abnormality of the ear	22930	RAB3GAP1	OMIM:619420
HP:0000598	Abnormality of the ear	22930	RAB3GAP1	OMIM:600118
HP:0000598	Abnormality of the ear	22930	RAB3GAP1	ORPHA:2510
HP:0000598	Abnormality of the ear	22907	DHX30	OMIM:617804
HP:0000598	Abnormality of the ear	7319	UBE2A	ORPHA:163956
HP:0000598	Abnormality of the ear	8925	HERC1	OMIM:617011
HP:0000598	Abnormality of the ear	8925	HERC1	ORPHA:457359
HP:0000598	Abnormality of the ear	56896	DPYSL5	OMIM:619435
HP:0000598	Abnormality of the ear	6418	SET	OMIM:618106
HP:0000598	Abnormality of the ear	85358	SHANK3	OMIM:606232
HP:0000598	Abnormality of the ear	85358	SHANK3	ORPHA:48652
HP:0000598	Abnormality of the ear	1062	CENPE	OMIM:616051
HP:0000598	Abnormality of the ear	57520	HECW2	OMIM:617268
HP:0000598	Abnormality of the ear	23030	KDM4B	OMIM:619320
HP:0000598	Abnormality of the ear	1363	CPE	OMIM:619326
HP:0000598	Abnormality of the ear	26128	KIFBP	ORPHA:66629
HP:0000598	Abnormality of the ear	54820	NDE1	OMIM:605013
HP:0000598	Abnormality of the ear	2720	GLB1	ORPHA:79255
HP:0000598	Abnormality of the ear	3417	IDH1	ORPHA:99646
HP:0000598	Abnormality of the ear	6904	TBCD	ORPHA:496641
HP:0000598	Abnormality of the ear	4810	NHS	OMIM:302350
HP:0000598	Abnormality of the ear	4204	MECP2	OMIM:300055
HP:0000598	Abnormality of the ear	4204	MECP2	OMIM:300260
HP:0000598	Abnormality of the ear	23221	RHOBTB2	OMIM:618004
HP:0000598	Abnormality of the ear	24140	FTSJ1	OMIM:309549
HP:0000598	Abnormality of the ear	92255	LMBRD2	OMIM:619694
HP:0000598	Abnormality of the ear	8831	SYNGAP1	ORPHA:544254
HP:0000598	Abnormality of the ear	3643	INSR	OMIM:246200
HP:0000598	Abnormality of the ear	3643	INSR	ORPHA:769
HP:0000598	Abnormality of the ear	5605	MAP2K2	ORPHA:1340
HP:0000598	Abnormality of the ear	29920	PYCR2	ORPHA:481152
HP:0000598	Abnormality of the ear	259232	NALCN	OMIM:615419
HP:0000598	Abnormality of the ear	23389	MED13L	ORPHA:369891
HP:0000598	Abnormality of the ear	23389	MED13L	OMIM:616789
HP:0000598	Abnormality of the ear	6821	SUOX	OMIM:272300
HP:0000598	Abnormality of the ear	23258	DENND5A	OMIM:617281
HP:0000598	Abnormality of the ear	80185	TTI2	OMIM:615541
HP:0000598	Abnormality of the ear	80185	TTI2	ORPHA:391307
HP:0000598	Abnormality of the ear	3758	KCNJ1	OMIM:241200
HP:0000598	Abnormality of the ear	92949	ADAMTSL1	ORPHA:521445
HP:0000598	Abnormality of the ear	10526	IPO8	OMIM:619472
HP:0000598	Abnormality of the ear	2892	GRIA3	ORPHA:364028
HP:0000598	Abnormality of the ear	348180	CTU2	OMIM:618142
HP:0000598	Abnormality of the ear	26580	BSCL2	OMIM:269700
HP:0000598	Abnormality of the ear	25782	RAB3GAP2	OMIM:614225
HP:0000598	Abnormality of the ear	25782	RAB3GAP2	ORPHA:2510
HP:0000598	Abnormality of the ear	1859	DYRK1A	OMIM:614104
HP:0000598	Abnormality of the ear	1861	TOR1A	OMIM:618947
HP:0000598	Abnormality of the ear	22931	RAB18	OMIM:614222
HP:0000598	Abnormality of the ear	22931	RAB18	ORPHA:2510
HP:0000598	Abnormality of the ear	10283	CWC27	OMIM:250410
HP:0000598	Abnormality of the ear	10283	CWC27	ORPHA:166035
HP:0000598	Abnormality of the ear	6513	SLC2A1	ORPHA:168577
HP:0000598	Abnormality of the ear	207	AKT1	ORPHA:744
HP:0000598	Abnormality of the ear	63932	STEEP1	OMIM:301013
HP:0000598	Abnormality of the ear	8720	MBTPS1	OMIM:618392
HP:0000598	Abnormality of the ear	136647	MPLKIP	OMIM:234050
HP:0000598	Abnormality of the ear	7204	TRIO	OMIM:617061
HP:0000598	Abnormality of the ear	2222	FDFT1	OMIM:618156
HP:0000598	Abnormality of the ear	6872	TAF1	OMIM:300966
HP:0000598	Abnormality of the ear	54870	QRICH1	OMIM:617982
HP:0000598	Abnormality of the ear	2893	GRIA4	OMIM:617864
HP:0000598	Abnormality of the ear	6748	SSR4	ORPHA:370927
HP:0000598	Abnormality of the ear	6748	SSR4	OMIM:300934
HP:0000598	Abnormality of the ear	84295	PHF6	OMIM:301900
HP:0000598	Abnormality of the ear	153241	CEP120	OMIM:616300
HP:0000598	Abnormality of the ear	440	ASNS	OMIM:615574
HP:0000598	Abnormality of the ear	55733	HHAT	ORPHA:1422
HP:0000598	Abnormality of the ear	11043	MID2	OMIM:300928
HP:0000598	Abnormality of the ear	128637	TBC1D20	ORPHA:2510
HP:0000598	Abnormality of the ear	9562	MINPP1	ORPHA:284339
HP:0000598	Abnormality of the ear	55181	SMG8	OMIM:619268
HP:0000598	Abnormality of the ear	1968	EIF2S3	OMIM:300148
HP:0000598	Abnormality of the ear	51109	RDH11	ORPHA:436245
HP:0000598	Abnormality of the ear	523	ATP6V1A	OMIM:617403
HP:0000598	Abnormality of the ear	51002	TPRKB	ORPHA:2065
HP:0000598	Abnormality of the ear	55644	OSGEP	ORPHA:2065
HP:0000598	Abnormality of the ear	57122	NUP107	ORPHA:2065
HP:0000598	Abnormality of the ear	10785	WDR4	ORPHA:2065
HP:0000598	Abnormality of the ear	55746	NUP133	ORPHA:2065
HP:0000598	Abnormality of the ear	112858	TP53RK	ORPHA:2065
HP:0000598	Abnormality of the ear	8270	LAGE3	ORPHA:2065
HP:0000598	Abnormality of the ear	27445	PCLO	OMIM:608027
HP:0000598	Abnormality of the ear	25974	MMACHC	OMIM:277400
HP:0000598	Abnormality of the ear	5052	PRDX1	OMIM:277400
HP:0000598	Abnormality of the ear	9990	SLC12A6	OMIM:218000
HP:0000598	Abnormality of the ear	64840	PORCN	OMIM:305600
HP:0000598	Abnormality of the ear	51434	ANAPC7	OMIM:619699
HP:0000598	Abnormality of the ear	117581	TWIST2	OMIM:209885
HP:0000598	Abnormality of the ear	6154	RPL26	OMIM:614900
HP:0000598	Abnormality of the ear	3166	HMX1	OMIM:612109
HP:0000598	Abnormality of the ear	6913	TBX15	ORPHA:93333
HP:0000598	Abnormality of the ear	6913	TBX15	OMIM:260660
HP:0000598	Abnormality of the ear	6558	SLC12A2	OMIM:619080
HP:0000598	Abnormality of the ear	1294	COL7A1	ORPHA:79409
HP:0000598	Abnormality of the ear	3199	HOXA2	OMIM:612290
HP:0000598	Abnormality of the ear	114928	GPRASP2	OMIM:301018
HP:0000598	Abnormality of the ear	100	ADA	ORPHA:277
HP:0000598	Abnormality of the ear	4791	NFKB2	ORPHA:293978
HP:0000598	Abnormality of the ear	4791	NFKB2	OMIM:615577
HP:0000598	Abnormality of the ear	3071	NCKAP1L	OMIM:618982
HP:0000598	Abnormality of the ear	8367	H4C5	OMIM:619950
HP:0000598	Abnormality of the ear	5728	PTEN	OMIM:605309
HP:0000598	Abnormality of the ear	5880	RAC2	OMIM:618986
HP:0000598	Abnormality of the ear	987	LRBA	OMIM:614700
HP:0000598	Abnormality of the ear	64682	ANAPC1	OMIM:618625
HP:0000598	Abnormality of the ear	7174	TPP2	ORPHA:444463
HP:0000598	Abnormality of the ear	7174	TPP2	OMIM:619220
HP:0000598	Abnormality of the ear	80232	WDR26	ORPHA:513456
HP:0000598	Abnormality of the ear	80232	WDR26	OMIM:617616
HP:0000598	Abnormality of the ear	89765	RSPH1	OMIM:615481
HP:0000598	Abnormality of the ear	89765	RSPH1	ORPHA:244
HP:0000598	Abnormality of the ear	161582	DNAAF4	OMIM:615482
HP:0000598	Abnormality of the ear	161582	DNAAF4	ORPHA:244
HP:0000598	Abnormality of the ear	4487	MSX1	ORPHA:199306
HP:0000598	Abnormality of the ear	5818	NECTIN1	ORPHA:199306
HP:0000598	Abnormality of the ear	1739	DLG1	ORPHA:199306
HP:0000598	Abnormality of the ear	999	CDH1	ORPHA:199306
HP:0000598	Abnormality of the ear	5156	PDGFRA	ORPHA:199306
HP:0000598	Abnormality of the ear	3664	IRF6	ORPHA:199306
HP:0000598	Abnormality of the ear	9411	ARHGAP29	ORPHA:199306
HP:0000598	Abnormality of the ear	1748	DLX4	ORPHA:199306
HP:0000598	Abnormality of the ear	51111	KMT5B	OMIM:617788
HP:0000598	Abnormality of the ear	146845	CFAP52	OMIM:619607
HP:0000598	Abnormality of the ear	973	CD79A	OMIM:613501
HP:0000598	Abnormality of the ear	3543	IGLL1	OMIM:613500
HP:0000598	Abnormality of the ear	6595	SMARCA2	ORPHA:2728
HP:0000598	Abnormality of the ear	144568	A2ML1	OMIM:166760
HP:0000598	Abnormality of the ear	29760	BLNK	OMIM:613502
HP:0000598	Abnormality of the ear	8382	NME5	OMIM:620032
HP:0000598	Abnormality of the ear	54	ACP5	OMIM:607944
HP:0000598	Abnormality of the ear	56992	KIF15	ORPHA:261323
HP:0000598	Abnormality of the ear	23495	TNFRSF13B	OMIM:240500
HP:0000598	Abnormality of the ear	115650	TNFRSF13C	OMIM:240500
HP:0000598	Abnormality of the ear	1380	CR2	OMIM:240500
HP:0000598	Abnormality of the ear	29851	ICOS	OMIM:240500
HP:0000598	Abnormality of the ear	29851	ICOS	OMIM:607594
HP:0000598	Abnormality of the ear	930	CD19	OMIM:240500
HP:0000598	Abnormality of the ear	930	CD19	OMIM:613493
HP:0000598	Abnormality of the ear	123872	DNAAF1	OMIM:613193
HP:0000598	Abnormality of the ear	123872	DNAAF1	ORPHA:244
HP:0000598	Abnormality of the ear	284058	KANSL1	ORPHA:363958
HP:0000598	Abnormality of the ear	284058	KANSL1	ORPHA:363965
HP:0000598	Abnormality of the ear	3572	IL6ST	OMIM:618523
HP:0000598	Abnormality of the ear	8546	AP3B1	OMIM:608233
HP:0000598	Abnormality of the ear	6899	TBX1	OMIM:188400
HP:0000598	Abnormality of the ear	28755	TRAC	OMIM:615387
HP:0000598	Abnormality of the ear	2783	GNB2	OMIM:619503
HP:0000598	Abnormality of the ear	2214	FCGR3A	OMIM:615707
HP:0000598	Abnormality of the ear	30011	SH3KBP1	OMIM:300310
HP:0000598	Abnormality of the ear	83861	RSPH3	OMIM:616481
HP:0000598	Abnormality of the ear	83861	RSPH3	ORPHA:244
HP:0000598	Abnormality of the ear	56006	SMG9	OMIM:619995
HP:0000598	Abnormality of the ear	8260	NAA10	OMIM:309800
HP:0000598	Abnormality of the ear	8260	NAA10	OMIM:300855
HP:0000598	Abnormality of the ear	54914	FOCAD	OMIM:619991
HP:0000598	Abnormality of the ear	6135	RPL11	OMIM:612562
HP:0000598	Abnormality of the ear	64446	DNAI2	OMIM:612444
HP:0000598	Abnormality of the ear	64446	DNAI2	ORPHA:244
HP:0000598	Abnormality of the ear	8364	H4C3	OMIM:619758
HP:0000598	Abnormality of the ear	54499	TMCO1	OMIM:213980
HP:0000598	Abnormality of the ear	55343	SLC35C1	OMIM:266265
HP:0000598	Abnormality of the ear	55343	SLC35C1	ORPHA:99843
HP:0000598	Abnormality of the ear	3507	IGHM	OMIM:601495
HP:0000598	Abnormality of the ear	8314	BAP1	OMIM:619762
HP:0000598	Abnormality of the ear	27086	FOXP1	ORPHA:391372
HP:0000598	Abnormality of the ear	5971	RELB	OMIM:617585
HP:0000598	Abnormality of the ear	4256	MGP	ORPHA:85202
HP:0000598	Abnormality of the ear	4256	MGP	OMIM:245150
HP:0000598	Abnormality of the ear	974	CD79B	OMIM:612692
HP:0000598	Abnormality of the ear	113179	ADAT3	OMIM:615286
HP:0000598	Abnormality of the ear	113179	ADAT3	ORPHA:363528
HP:0000598	Abnormality of the ear	54919	DNAAF5	OMIM:614874
HP:0000598	Abnormality of the ear	54919	DNAAF5	ORPHA:244
HP:0000598	Abnormality of the ear	2542	SLC37A4	OMIM:619525
HP:0000598	Abnormality of the ear	917	CD3G	OMIM:615607
HP:0000598	Abnormality of the ear	11128	POLR3A	ORPHA:3455
HP:0000598	Abnormality of the ear	3373	HYAL1	OMIM:601492
HP:0000598	Abnormality of the ear	2535	FZD2	OMIM:164745
HP:0000598	Abnormality of the ear	7030	TFE3	OMIM:301066
HP:0000598	Abnormality of the ear	92749	DRC1	OMIM:615294
HP:0000598	Abnormality of the ear	92749	DRC1	ORPHA:244
HP:0000598	Abnormality of the ear	3978	LIG1	OMIM:619774
HP:0000598	Abnormality of the ear	6603	SMARCD2	OMIM:617475
HP:0000598	Abnormality of the ear	84522	JAGN1	OMIM:616022
HP:0000598	Abnormality of the ear	6929	TCF3	OMIM:616941
HP:0000598	Abnormality of the ear	7994	KAT6A	OMIM:616268
HP:0000598	Abnormality of the ear	3551	IKBKB	OMIM:618204
HP:0000598	Abnormality of the ear	916	CD3E	OMIM:615615
HP:0000598	Abnormality of the ear	3930	LBR	OMIM:169400
HP:0000598	Abnormality of the ear	246176	GAS2L2	OMIM:618449
HP:0000598	Abnormality of the ear	246176	GAS2L2	ORPHA:244
HP:0000598	Abnormality of the ear	915	CD3D	OMIM:615617
HP:0000598	Abnormality of the ear	3514	IGKC	ORPHA:183675
HP:0000598	Abnormality of the ear	3501	IGHG2	ORPHA:183675
HP:0000598	Abnormality of the ear	51311	TLR8	OMIM:301078
HP:0000598	Abnormality of the ear	25981	DNAH1	ORPHA:244
HP:0000598	Abnormality of the ear	115948	ODAD3	ORPHA:244
HP:0000598	Abnormality of the ear	115948	ODAD3	OMIM:616037
HP:0000598	Abnormality of the ear	54768	HYDIN	ORPHA:244
HP:0000598	Abnormality of the ear	54768	HYDIN	OMIM:608647
HP:0000598	Abnormality of the ear	352909	DNAAF3	ORPHA:244
HP:0000598	Abnormality of the ear	27148	STK36	ORPHA:244
HP:0000598	Abnormality of the ear	27148	STK36	OMIM:619436
HP:0000598	Abnormality of the ear	51314	NME8	ORPHA:244
HP:0000598	Abnormality of the ear	54970	TTC12	ORPHA:244
HP:0000598	Abnormality of the ear	152110	NEK10	ORPHA:244
HP:0000598	Abnormality of the ear	2302	FOXJ1	ORPHA:244
HP:0000598	Abnormality of the ear	221421	RSPH9	ORPHA:244
HP:0000598	Abnormality of the ear	85478	CCDC65	ORPHA:244
HP:0000598	Abnormality of the ear	85478	CCDC65	OMIM:615504
HP:0000598	Abnormality of the ear	55036	CCDC40	ORPHA:244
HP:0000598	Abnormality of the ear	55036	CCDC40	OMIM:613808
HP:0000598	Abnormality of the ear	51364	ZMYND10	ORPHA:244
HP:0000598	Abnormality of the ear	51364	ZMYND10	OMIM:615444
HP:0000598	Abnormality of the ear	6674	SPAG1	ORPHA:244
HP:0000598	Abnormality of the ear	6674	SPAG1	OMIM:615505
HP:0000598	Abnormality of the ear	83544	DNAL1	ORPHA:244
HP:0000598	Abnormality of the ear	83538	ODAD4	ORPHA:244
HP:0000598	Abnormality of the ear	200373	CFAP221	ORPHA:244
HP:0000598	Abnormality of the ear	374407	DNAJB13	ORPHA:244
HP:0000598	Abnormality of the ear	55172	DNAAF2	ORPHA:244
HP:0000598	Abnormality of the ear	2622	GAS8	ORPHA:244
HP:0000598	Abnormality of the ear	2622	GAS8	OMIM:616726
HP:0000598	Abnormality of the ear	23639	DNAAF11	ORPHA:244
HP:0000598	Abnormality of the ear	23639	DNAAF11	OMIM:614935
HP:0000598	Abnormality of the ear	27019	DNAI1	ORPHA:244
HP:0000598	Abnormality of the ear	345895	RSPH4A	ORPHA:244
HP:0000598	Abnormality of the ear	388389	CCDC103	ORPHA:244
HP:0000598	Abnormality of the ear	388389	CCDC103	OMIM:614679
HP:0000598	Abnormality of the ear	93233	ODAD1	ORPHA:244
HP:0000598	Abnormality of the ear	93233	ODAD1	OMIM:615067
HP:0000598	Abnormality of the ear	55130	ODAD2	ORPHA:244
HP:0000598	Abnormality of the ear	55130	ODAD2	OMIM:615451
HP:0000598	Abnormality of the ear	1767	DNAH5	ORPHA:244
HP:0000598	Abnormality of the ear	1767	DNAH5	OMIM:608644
HP:0000598	Abnormality of the ear	345643	MCIDAS	ORPHA:244
HP:0000598	Abnormality of the ear	56683	CFAP298	ORPHA:244
HP:0000598	Abnormality of the ear	56683	CFAP298	OMIM:615500
HP:0000598	Abnormality of the ear	79925	SPEF2	ORPHA:244
HP:0000598	Abnormality of the ear	10309	CCNO	ORPHA:244
HP:0000598	Abnormality of the ear	115399	LRRC56	ORPHA:244
HP:0000598	Abnormality of the ear	115399	LRRC56	OMIM:618254
HP:0000598	Abnormality of the ear	139212	DNAAF6	ORPHA:244
HP:0000598	Abnormality of the ear	85016	CFAP300	ORPHA:244
HP:0000598	Abnormality of the ear	339829	CCDC39	ORPHA:244
HP:0000598	Abnormality of the ear	8701	DNAH11	ORPHA:244
HP:0000598	Abnormality of the ear	8701	DNAH11	OMIM:611884
HP:0000598	Abnormality of the ear	1770	DNAH9	ORPHA:244
HP:0000598	Abnormality of the ear	81704	DOCK8	OMIM:243700
HP:0000598	Abnormality of the ear	2742	GLRA2	OMIM:301076
HP:0000598	Abnormality of the ear	55023	PHIP	ORPHA:589905
HP:0000598	Abnormality of the ear	1642	DDB1	OMIM:619426
HP:0000598	Abnormality of the ear	388015	RTL1	ORPHA:254531
HP:0000598	Abnormality of the ear	388015	RTL1	ORPHA:96184
HP:0000598	Abnormality of the ear	8788	DLK1	ORPHA:254531
HP:0000598	Abnormality of the ear	8788	DLK1	ORPHA:96184
HP:0000598	Abnormality of the ear	55384	MEG3	ORPHA:254531
HP:0000598	Abnormality of the ear	55384	MEG3	ORPHA:96184
HP:0000598	Abnormality of the ear	4683	NBN	OMIM:251260
HP:0000598	Abnormality of the ear	10806	SDCCAG8	OMIM:615993
HP:0000598	Abnormality of the ear	100151683	RNU4ATAC	ORPHA:353298
HP:0000598	Abnormality of the ear	100151683	RNU4ATAC	OMIM:616651
HP:0000598	Abnormality of the ear	3426	CFI	OMIM:610984
HP:0000598	Abnormality of the ear	9094	UNC119	OMIM:615518
HP:0000598	Abnormality of the ear	79650	USB1	OMIM:604173
HP:0000598	Abnormality of the ear	7314	UBB	ORPHA:99772
HP:0000598	Abnormality of the ear	57822	GRHL3	ORPHA:99772
HP:0000598	Abnormality of the ear	5575	PRKAR1B	OMIM:619680
HP:0000598	Abnormality of the ear	10847	SRCAP	OMIM:136140
HP:0000598	Abnormality of the ear	3718	JAK3	OMIM:600802
HP:0000598	Abnormality of the ear	11151	CORO1A	OMIM:615401
HP:0000598	Abnormality of the ear	4297	KMT2A	OMIM:605130
HP:0000598	Abnormality of the ear	84061	MAGT1	OMIM:300853
HP:0000598	Abnormality of the ear	2332	FMR1	ORPHA:449291
HP:0000598	Abnormality of the ear	6045	RNF2	OMIM:619460
HP:0000598	Abnormality of the ear	5718	PSMD12	ORPHA:529962
HP:0000598	Abnormality of the ear	2186	BPTF	ORPHA:529962
HP:0000598	Abnormality of the ear	1822	ATN1	OMIM:618494
HP:0000598	Abnormality of the ear	3560	IL2RB	OMIM:618495
HP:0000598	Abnormality of the ear	7454	WAS	OMIM:301000
HP:0000598	Abnormality of the ear	57003	CCDC47	OMIM:618268
HP:0000598	Abnormality of the ear	5977	DPF2	OMIM:618027
HP:0000598	Abnormality of the ear	55329	MNS1	OMIM:618948
HP:0000598	Abnormality of the ear	5580	PRKCD	OMIM:615559
HP:0000598	Abnormality of the ear	920	CD4	OMIM:619238
HP:0000598	Abnormality of the ear	5336	PLCG2	OMIM:614468
HP:0000598	Abnormality of the ear	3570	IL6R	OMIM:618944
HP:0000598	Abnormality of the ear	3575	IL7R	OMIM:608971
HP:0000598	Abnormality of the ear	23112	TNRC6B	OMIM:619243
HP:0000598	Abnormality of the ear	51816	ADA2	OMIM:615688
HP:0000598	Abnormality of the ear	50615	IL21R	OMIM:615207
HP:0000598	Abnormality of the ear	5294	PIK3CG	OMIM:619802
HP:0000598	Abnormality of the ear	2799	GNS	OMIM:252940
HP:0000598	Abnormality of the ear	10551	AGR2	OMIM:620233
HP:0000598	Abnormality of the ear	84905	ZNF341	OMIM:618282
HP:0000598	Abnormality of the ear	5236	PGM1	OMIM:614921
HP:0000598	Abnormality of the ear	23765	IL17RA	OMIM:613953
HP:0000598	Abnormality of the ear	6850	SYK	OMIM:619381
HP:0000598	Abnormality of the ear	341208	HEPHL1	OMIM:261990
HP:0000598	Abnormality of the ear	721	C4B	OMIM:614379
HP:0000598	Abnormality of the ear	1794	DOCK2	OMIM:616433
HP:0000598	Abnormality of the ear	6736	SRY	ORPHA:1772
HP:0000598	Abnormality of the ear	5130	PCYT1A	OMIM:608940
HP:0000598	Abnormality of the ear	5696	PSMB8	OMIM:256040
HP:0000598	Abnormality of the ear	3106	HLA-B	ORPHA:397
HP:0000598	Abnormality of the ear	3123	HLA-DRB1	ORPHA:397
HP:0000598	Abnormality of the ear	8974	P4HA2	ORPHA:397
HP:0000598	Abnormality of the ear	10194	TSHZ1	OMIM:607842
HP:0000598	Abnormality of the ear	341640	FREM2	ORPHA:2052
HP:0000598	Abnormality of the ear	80144	FRAS1	ORPHA:2052
HP:0000598	Abnormality of the ear	80144	FRAS1	OMIM:219000
HP:0000598	Abnormality of the ear	23426	GRIP1	ORPHA:2052
HP:0000598	Abnormality of the ear	10262	SF3B4	OMIM:154400
HP:0000598	Abnormality of the ear	6228	RPS23	OMIM:617412
HP:0000598	Abnormality of the ear	145173	B3GLCT	ORPHA:709
HP:0000598	Abnormality of the ear	64324	NSD1	ORPHA:821
HP:0000598	Abnormality of the ear	64324	NSD1	OMIM:117550
HP:0000598	Abnormality of the ear	10297	APC2	ORPHA:821
HP:0000598	Abnormality of the ear	5447	POR	ORPHA:95699
HP:0000598	Abnormality of the ear	5447	POR	OMIM:201750
HP:0000598	Abnormality of the ear	8792	TNFRSF11A	OMIM:174810
HP:0000598	Abnormality of the ear	1723	DHODH	OMIM:263750
HP:0000598	Abnormality of the ear	1723	DHODH	ORPHA:246
HP:0000598	Abnormality of the ear	2314	FLII	ORPHA:819
HP:0000598	Abnormality of the ear	23096	IQSEC2	ORPHA:819
HP:0000598	Abnormality of the ear	10743	RAI1	ORPHA:819
HP:0000598	Abnormality of the ear	10522	DEAF1	ORPHA:819
HP:0000598	Abnormality of the ear	6662	SOX9	OMIM:114290
HP:0000598	Abnormality of the ear	9382	COG1	OMIM:611209
HP:0000598	Abnormality of the ear	1500	CTNND1	ORPHA:1997
HP:0000598	Abnormality of the ear	2188	FANCF	OMIM:603467
HP:0000598	Abnormality of the ear	1146	CHRNG	OMIM:265000
HP:0000598	Abnormality of the ear	1146	CHRNG	ORPHA:2990
HP:0000598	Abnormality of the ear	2590	GALNT2	OMIM:618885
HP:0000598	Abnormality of the ear	4853	NOTCH2	OMIM:102500
HP:0000598	Abnormality of the ear	90993	CREB3L1	OMIM:616229
HP:0000598	Abnormality of the ear	1788	DNMT3A	ORPHA:276621
HP:0000598	Abnormality of the ear	2034	EPAS1	ORPHA:276621
HP:0000598	Abnormality of the ear	6392	SDHD	ORPHA:276621
HP:0000598	Abnormality of the ear	6392	SDHD	OMIM:168000
HP:0000598	Abnormality of the ear	6392	SDHD	ORPHA:29072
HP:0000598	Abnormality of the ear	6390	SDHB	ORPHA:276621
HP:0000598	Abnormality of the ear	6390	SDHB	ORPHA:29072
HP:0000598	Abnormality of the ear	9401	RECQL4	OMIM:218600
HP:0000598	Abnormality of the ear	9401	RECQL4	ORPHA:1225
HP:0000598	Abnormality of the ear	83879	CDCA7	OMIM:616910
HP:0000598	Abnormality of the ear	2254	FGF9	ORPHA:3237
HP:0000598	Abnormality of the ear	3590	IL11RA	OMIM:614188
HP:0000598	Abnormality of the ear	9508	ADAMTS3	ORPHA:2136
HP:0000598	Abnormality of the ear	1909	EDNRA	OMIM:616367
HP:0000598	Abnormality of the ear	1743	DLST	ORPHA:29072
HP:0000598	Abnormality of the ear	4191	MDH2	ORPHA:29072
HP:0000598	Abnormality of the ear	23095	KIF1B	ORPHA:29072
HP:0000598	Abnormality of the ear	2271	FH	ORPHA:29072
HP:0000598	Abnormality of the ear	8402	SLC25A11	ORPHA:29072
HP:0000598	Abnormality of the ear	54949	SDHAF2	ORPHA:29072
HP:0000598	Abnormality of the ear	55654	TMEM127	ORPHA:29072
HP:0000598	Abnormality of the ear	4763	NF1	ORPHA:29072
HP:0000598	Abnormality of the ear	6391	SDHC	ORPHA:29072
HP:0000598	Abnormality of the ear	4149	MAX	ORPHA:29072
HP:0000598	Abnormality of the ear	145258	GSC	OMIM:602471
HP:0000598	Abnormality of the ear	10907	TXNL4A	OMIM:608572
HP:0000598	Abnormality of the ear	6628	SNRPB	ORPHA:1393
HP:0000598	Abnormality of the ear	6628	SNRPB	OMIM:117650
HP:0000598	Abnormality of the ear	6231	RPS26	OMIM:613309
HP:0000598	Abnormality of the ear	6949	TCOF1	OMIM:154500
HP:0000598	Abnormality of the ear	6949	TCOF1	ORPHA:861
HP:0000598	Abnormality of the ear	257	ALX3	OMIM:136760
HP:0000598	Abnormality of the ear	9533	POLR1C	OMIM:248390
HP:0000598	Abnormality of the ear	9533	POLR1C	ORPHA:861
HP:0000598	Abnormality of the ear	51053	GMNN	OMIM:616835
HP:0000598	Abnormality of the ear	196528	ARID2	OMIM:617808
HP:0000598	Abnormality of the ear	6309	SC5D	OMIM:607330
HP:0000598	Abnormality of the ear	5396	PRRX1	OMIM:202650
HP:0000598	Abnormality of the ear	2623	GATA1	OMIM:190685
HP:0000598	Abnormality of the ear	55215	FANCI	OMIM:609053
HP:0000598	Abnormality of the ear	5075	PAX1	ORPHA:2792
HP:0000598	Abnormality of the ear	2077	ERF	ORPHA:207
HP:0000598	Abnormality of the ear	1312	COMT	ORPHA:567
HP:0000598	Abnormality of the ear	221037	JMJD1C	ORPHA:567
HP:0000598	Abnormality of the ear	2812	GP1BB	ORPHA:567
HP:0000598	Abnormality of the ear	6239	RREB1	ORPHA:567
HP:0000598	Abnormality of the ear	7290	HIRA	ORPHA:567
HP:0000598	Abnormality of the ear	9632	SEC24C	ORPHA:567
HP:0000598	Abnormality of the ear	7353	UFD1	ORPHA:567
HP:0000598	Abnormality of the ear	421	ARVCF	ORPHA:567
HP:0000598	Abnormality of the ear	7703	PCGF2	OMIM:618371
HP:0000598	Abnormality of the ear	4784	NFIX	ORPHA:561
HP:0000598	Abnormality of the ear	774	CACNA1B	OMIM:618497
HP:0000598	Abnormality of the ear	139285	AMER1	ORPHA:2780
HP:0000598	Abnormality of the ear	139285	AMER1	OMIM:300373
HP:0000598	Abnormality of the ear	9343	EFTUD2	OMIM:610536
HP:0000598	Abnormality of the ear	9343	EFTUD2	ORPHA:79113
HP:0000598	Abnormality of the ear	84172	POLR1B	OMIM:618939
HP:0000598	Abnormality of the ear	84172	POLR1B	ORPHA:861
HP:0000598	Abnormality of the ear	760	CA2	ORPHA:2785
HP:0000598	Abnormality of the ear	29957	SLC25A24	ORPHA:2095
HP:0000598	Abnormality of the ear	29957	SLC25A24	OMIM:612289
HP:0000598	Abnormality of the ear	65250	CPLANE1	OMIM:277170
HP:0000598	Abnormality of the ear	65250	CPLANE1	ORPHA:2754
HP:0000598	Abnormality of the ear	8092	ALX1	ORPHA:306542
HP:0000598	Abnormality of the ear	28962	OSTM1	ORPHA:85179
HP:0000598	Abnormality of the ear	246329	STAC3	ORPHA:168572
HP:0000598	Abnormality of the ear	246329	STAC3	OMIM:255995
HP:0000598	Abnormality of the ear	2131	EXT1	ORPHA:502
HP:0000598	Abnormality of the ear	7227	TRPS1	ORPHA:502
HP:0000598	Abnormality of the ear	10269	ZMPSTE24	ORPHA:740
HP:0000598	Abnormality of the ear	51082	POLR1D	ORPHA:861
HP:0000598	Abnormality of the ear	51082	POLR1D	OMIM:613717
HP:0000598	Abnormality of the ear	26137	ZBTB20	ORPHA:3042
HP:0000598	Abnormality of the ear	1984	EIF5A	OMIM:619376
HP:0000598	Abnormality of the ear	650	BMP2	OMIM:617877
HP:0000598	Abnormality of the ear	9487	PIGL	OMIM:280000
HP:0000598	Abnormality of the ear	4621	MYH3	ORPHA:2990
HP:0000598	Abnormality of the ear	4750	NEK1	ORPHA:2751
HP:0000598	Abnormality of the ear	26123	TCTN3	ORPHA:2753
HP:0000598	Abnormality of the ear	26123	TCTN3	ORPHA:2754
HP:0000598	Abnormality of the ear	9851	KIAA0753	ORPHA:2754
HP:0000598	Abnormality of the ear	5147	PDE6D	ORPHA:2754
HP:0000598	Abnormality of the ear	51259	TMEM216	ORPHA:2754
HP:0000598	Abnormality of the ear	90121	TSR2	OMIM:300946
HP:0000598	Abnormality of the ear	4921	DDR2	OMIM:618175
HP:0000598	Abnormality of the ear	2549	GAB1	OMIM:605428
HP:0000598	Abnormality of the ear	9015	TAF1A	ORPHA:154
HP:0000598	Abnormality of the ear	5663	PSEN1	ORPHA:154
HP:0000598	Abnormality of the ear	6389	SDHA	ORPHA:154
HP:0000598	Abnormality of the ear	7112	TMPO	ORPHA:154
HP:0000598	Abnormality of the ear	9464	HAND2	ORPHA:154
HP:0000598	Abnormality of the ear	4625	MYH7	ORPHA:154
HP:0000598	Abnormality of the ear	88	ACTN2	ORPHA:154
HP:0000598	Abnormality of the ear	10486	CAP2	ORPHA:154
HP:0000598	Abnormality of the ear	10060	ABCC9	ORPHA:154
HP:0000598	Abnormality of the ear	7168	TPM1	ORPHA:154
HP:0000598	Abnormality of the ear	7414	VCL	ORPHA:154
HP:0000598	Abnormality of the ear	1832	DSP	ORPHA:154
HP:0000598	Abnormality of the ear	70	ACTC1	ORPHA:154
HP:0000598	Abnormality of the ear	27063	ANKRD1	ORPHA:154
HP:0000598	Abnormality of the ear	8048	CSRP3	ORPHA:154
HP:0000598	Abnormality of the ear	1410	CRYAB	ORPHA:154
HP:0000598	Abnormality of the ear	4000	LMNA	ORPHA:154
HP:0000598	Abnormality of the ear	7139	TNNT2	ORPHA:154
HP:0000598	Abnormality of the ear	1829	DSG2	ORPHA:154
HP:0000598	Abnormality of the ear	3910	LAMA4	ORPHA:154
HP:0000598	Abnormality of the ear	63976	PRDM16	ORPHA:154
HP:0000598	Abnormality of the ear	63976	PRDM16	ORPHA:1606
HP:0000598	Abnormality of the ear	7273	TTN	ORPHA:154
HP:0000598	Abnormality of the ear	10587	TXNRD2	ORPHA:154
HP:0000598	Abnormality of the ear	9531	BAG3	ORPHA:154
HP:0000598	Abnormality of the ear	5350	PLN	ORPHA:154
HP:0000598	Abnormality of the ear	91624	NEXN	ORPHA:154
HP:0000598	Abnormality of the ear	79717	PPCS	ORPHA:154
HP:0000598	Abnormality of the ear	5664	PSEN2	ORPHA:154
HP:0000598	Abnormality of the ear	4624	MYH6	ORPHA:154
HP:0000598	Abnormality of the ear	9529	BAG5	ORPHA:154
HP:0000598	Abnormality of the ear	4607	MYBPC3	ORPHA:154
HP:0000598	Abnormality of the ear	282996	RBM20	ORPHA:154
HP:0000598	Abnormality of the ear	7137	TNNI3	ORPHA:154
HP:0000598	Abnormality of the ear	11155	LDB3	ORPHA:154
HP:0000598	Abnormality of the ear	2274	FHL2	ORPHA:154
HP:0000598	Abnormality of the ear	6901	TAFAZZIN	ORPHA:154
HP:0000598	Abnormality of the ear	22845	DOLK	ORPHA:154
HP:0000598	Abnormality of the ear	5894	RAF1	ORPHA:154
HP:0000598	Abnormality of the ear	5894	RAF1	ORPHA:500
HP:0000598	Abnormality of the ear	5894	RAF1	ORPHA:648
HP:0000598	Abnormality of the ear	1756	DMD	ORPHA:154
HP:0000598	Abnormality of the ear	57798	GATAD1	ORPHA:154
HP:0000598	Abnormality of the ear	7134	TNNC1	ORPHA:154
HP:0000598	Abnormality of the ear	84665	MYPN	ORPHA:154
HP:0000598	Abnormality of the ear	1674	DES	ORPHA:154
HP:0000598	Abnormality of the ear	6444	SGCD	ORPHA:154
HP:0000598	Abnormality of the ear	6331	SCN5A	ORPHA:154
HP:0000598	Abnormality of the ear	2218	FKTN	ORPHA:154
HP:0000598	Abnormality of the ear	8557	TCAP	ORPHA:154
HP:0000598	Abnormality of the ear	51399	TRAPPC4	OMIM:618741
HP:0000598	Abnormality of the ear	23019	CNOT1	OMIM:618500
HP:0000598	Abnormality of the ear	1024	CDK8	OMIM:618748
HP:0000598	Abnormality of the ear	55823	VPS11	ORPHA:466934
HP:0000598	Abnormality of the ear	5238	PGM3	ORPHA:443811
HP:0000598	Abnormality of the ear	5238	PGM3	OMIM:615816
HP:0000598	Abnormality of the ear	5165	PDK3	OMIM:300905
HP:0000598	Abnormality of the ear	5165	PDK3	ORPHA:352675
HP:0000598	Abnormality of the ear	1786	DNMT1	ORPHA:314404
HP:0000598	Abnormality of the ear	1786	DNMT1	OMIM:614116
HP:0000598	Abnormality of the ear	1786	DNMT1	OMIM:604121
HP:0000598	Abnormality of the ear	2261	FGFR3	ORPHA:53271
HP:0000598	Abnormality of the ear	2261	FGFR3	ORPHA:794
HP:0000598	Abnormality of the ear	2261	FGFR3	ORPHA:2363
HP:0000598	Abnormality of the ear	2261	FGFR3	OMIM:602849
HP:0000598	Abnormality of the ear	2261	FGFR3	OMIM:610474
HP:0000598	Abnormality of the ear	51	ACOX1	ORPHA:2971
HP:0000598	Abnormality of the ear	91147	TMEM67	OMIM:602152
HP:0000598	Abnormality of the ear	51099	ABHD5	OMIM:275630
HP:0000598	Abnormality of the ear	51099	ABHD5	ORPHA:98907
HP:0000598	Abnormality of the ear	4125	MAN2B1	ORPHA:309282
HP:0000598	Abnormality of the ear	4125	MAN2B1	OMIM:248500
HP:0000598	Abnormality of the ear	215	ABCD1	ORPHA:388
HP:0000598	Abnormality of the ear	5979	RET	ORPHA:388
HP:0000598	Abnormality of the ear	5979	RET	ORPHA:99803
HP:0000598	Abnormality of the ear	2668	GDNF	ORPHA:388
HP:0000598	Abnormality of the ear	6608	SMO	ORPHA:388
HP:0000598	Abnormality of the ear	1889	ECE1	ORPHA:388
HP:0000598	Abnormality of the ear	6720	SREBF1	ORPHA:388
HP:0000598	Abnormality of the ear	1908	EDN3	ORPHA:388
HP:0000598	Abnormality of the ear	1908	EDN3	OMIM:613265
HP:0000598	Abnormality of the ear	223117	SEMA3D	ORPHA:388
HP:0000598	Abnormality of the ear	538	ATP7A	ORPHA:388
HP:0000598	Abnormality of the ear	1910	EDNRB	ORPHA:388
HP:0000598	Abnormality of the ear	1910	EDNRB	OMIM:277580
HP:0000598	Abnormality of the ear	1910	EDNRB	ORPHA:895
HP:0000598	Abnormality of the ear	10512	SEMA3C	ORPHA:388
HP:0000598	Abnormality of the ear	2064	ERBB2	ORPHA:388
HP:0000598	Abnormality of the ear	2064	ERBB2	OMIM:619465
HP:0000598	Abnormality of the ear	2065	ERBB3	ORPHA:388
HP:0000598	Abnormality of the ear	4902	NRTN	ORPHA:388
HP:0000598	Abnormality of the ear	197131	UBR1	OMIM:243800
HP:0000598	Abnormality of the ear	197131	UBR1	ORPHA:2315
HP:0000598	Abnormality of the ear	23498	HAAO	OMIM:617660
HP:0000598	Abnormality of the ear	83959	SLC4A11	ORPHA:293603
HP:0000598	Abnormality of the ear	83959	SLC4A11	ORPHA:1490
HP:0000598	Abnormality of the ear	83959	SLC4A11	OMIM:217400
HP:0000598	Abnormality of the ear	9578	CDC42BPB	OMIM:619841
HP:0000598	Abnormality of the ear	396	ARHGDIA	OMIM:615244
HP:0000598	Abnormality of the ear	374462	PTPRQ	OMIM:617663
HP:0000598	Abnormality of the ear	1855	DVL1	OMIM:616331
HP:0000598	Abnormality of the ear	56616	DIABLO	OMIM:614152
HP:0000598	Abnormality of the ear	1841	DTYMK	OMIM:619847
HP:0000598	Abnormality of the ear	166378	AFG2A	OMIM:616577
HP:0000598	Abnormality of the ear	84197	POMK	OMIM:615249
HP:0000598	Abnormality of the ear	81846	SBF2	OMIM:604563
HP:0000598	Abnormality of the ear	81846	SBF2	ORPHA:99956
HP:0000598	Abnormality of the ear	1161	ERCC8	OMIM:216400
HP:0000598	Abnormality of the ear	55650	PIGV	OMIM:239300
HP:0000598	Abnormality of the ear	90	ACVR1	OMIM:135100
HP:0000598	Abnormality of the ear	9885	OSBPL2	OMIM:616340
HP:0000598	Abnormality of the ear	3190	HNRNPK	OMIM:616580
HP:0000598	Abnormality of the ear	3190	HNRNPK	ORPHA:453504
HP:0000598	Abnormality of the ear	3190	HNRNPK	ORPHA:352665
HP:0000598	Abnormality of the ear	317662	FAM149B1	OMIM:618763
HP:0000598	Abnormality of the ear	64834	ELOVL1	OMIM:618527
HP:0000598	Abnormality of the ear	54880	BCOR	ORPHA:2712
HP:0000598	Abnormality of the ear	54880	BCOR	OMIM:300166
HP:0000598	Abnormality of the ear	3423	IDS	ORPHA:217085
HP:0000598	Abnormality of the ear	3423	IDS	ORPHA:217093
HP:0000598	Abnormality of the ear	9968	MED12	ORPHA:93932
HP:0000598	Abnormality of the ear	9968	MED12	OMIM:305450
HP:0000598	Abnormality of the ear	79029	AFG2B	OMIM:619615
HP:0000598	Abnormality of the ear	85465	SELENOI	OMIM:618768
HP:0000598	Abnormality of the ear	5191	PEX7	OMIM:215100
HP:0000598	Abnormality of the ear	5191	PEX7	ORPHA:773
HP:0000598	Abnormality of the ear	5191	PEX7	OMIM:614879
HP:0000598	Abnormality of the ear	5191	PEX7	OMIM:266500
HP:0000598	Abnormality of the ear	4571	MT-TP	OMIM:545000
HP:0000598	Abnormality of the ear	4571	MT-TP	ORPHA:551
HP:0000598	Abnormality of the ear	4565	MT-TI	OMIM:545000
HP:0000598	Abnormality of the ear	1301	COL11A1	OMIM:618533
HP:0000598	Abnormality of the ear	1301	COL11A1	ORPHA:90654
HP:0000598	Abnormality of the ear	1301	COL11A1	ORPHA:440354
HP:0000598	Abnormality of the ear	1301	COL11A1	ORPHA:560
HP:0000598	Abnormality of the ear	1301	COL11A1	OMIM:154780
HP:0000598	Abnormality of the ear	1301	COL11A1	OMIM:604841
HP:0000598	Abnormality of the ear	1301	COL11A1	ORPHA:250984
HP:0000598	Abnormality of the ear	57231	SNX14	OMIM:616354
HP:0000598	Abnormality of the ear	57231	SNX14	ORPHA:397709
HP:0000598	Abnormality of the ear	23327	NEDD4L	OMIM:617201
HP:0000598	Abnormality of the ear	1280	COL2A1	ORPHA:90653
HP:0000598	Abnormality of the ear	1280	COL2A1	ORPHA:166100
HP:0000598	Abnormality of the ear	1280	COL2A1	OMIM:271700
HP:0000598	Abnormality of the ear	1280	COL2A1	OMIM:108300
HP:0000598	Abnormality of the ear	1428	CRYM	OMIM:616357
HP:0000598	Abnormality of the ear	28514	DLL1	ORPHA:93926
HP:0000598	Abnormality of the ear	28514	DLL1	ORPHA:93924
HP:0000598	Abnormality of the ear	28514	DLL1	ORPHA:93925
HP:0000598	Abnormality of the ear	28514	DLL1	ORPHA:220386
HP:0000598	Abnormality of the ear	2253	FGF8	ORPHA:93926
HP:0000598	Abnormality of the ear	2253	FGF8	ORPHA:93924
HP:0000598	Abnormality of the ear	2253	FGF8	ORPHA:93925
HP:0000598	Abnormality of the ear	2253	FGF8	ORPHA:220386
HP:0000598	Abnormality of the ear	2253	FGF8	ORPHA:478
HP:0000598	Abnormality of the ear	2253	FGF8	OMIM:612702
HP:0000598	Abnormality of the ear	6496	SIX3	ORPHA:93926
HP:0000598	Abnormality of the ear	6496	SIX3	ORPHA:93924
HP:0000598	Abnormality of the ear	6496	SIX3	ORPHA:93925
HP:0000598	Abnormality of the ear	6496	SIX3	ORPHA:220386
HP:0000598	Abnormality of the ear	7050	TGIF1	ORPHA:93926
HP:0000598	Abnormality of the ear	7050	TGIF1	ORPHA:93924
HP:0000598	Abnormality of the ear	7050	TGIF1	ORPHA:93925
HP:0000598	Abnormality of the ear	7050	TGIF1	ORPHA:220386
HP:0000598	Abnormality of the ear	4838	NODAL	ORPHA:93926
HP:0000598	Abnormality of the ear	4838	NODAL	ORPHA:93924
HP:0000598	Abnormality of the ear	4838	NODAL	ORPHA:93925
HP:0000598	Abnormality of the ear	4838	NODAL	ORPHA:220386
HP:0000598	Abnormality of the ear	6469	SHH	ORPHA:93926
HP:0000598	Abnormality of the ear	6469	SHH	ORPHA:93924
HP:0000598	Abnormality of the ear	6469	SHH	ORPHA:93925
HP:0000598	Abnormality of the ear	6469	SHH	ORPHA:220386
HP:0000598	Abnormality of the ear	7546	ZIC2	ORPHA:93926
HP:0000598	Abnormality of the ear	7546	ZIC2	ORPHA:93924
HP:0000598	Abnormality of the ear	7546	ZIC2	ORPHA:93925
HP:0000598	Abnormality of the ear	7546	ZIC2	ORPHA:220386
HP:0000598	Abnormality of the ear	6491	STIL	ORPHA:93926
HP:0000598	Abnormality of the ear	6491	STIL	ORPHA:93924
HP:0000598	Abnormality of the ear	6491	STIL	ORPHA:93925
HP:0000598	Abnormality of the ear	6491	STIL	ORPHA:220386
HP:0000598	Abnormality of the ear	2619	GAS1	ORPHA:93926
HP:0000598	Abnormality of the ear	2619	GAS1	ORPHA:93924
HP:0000598	Abnormality of the ear	2619	GAS1	ORPHA:93925
HP:0000598	Abnormality of the ear	2619	GAS1	ORPHA:220386
HP:0000598	Abnormality of the ear	84976	DISP1	ORPHA:93926
HP:0000598	Abnormality of the ear	84976	DISP1	ORPHA:93924
HP:0000598	Abnormality of the ear	84976	DISP1	ORPHA:93925
HP:0000598	Abnormality of the ear	84976	DISP1	ORPHA:220386
HP:0000598	Abnormality of the ear	2736	GLI2	ORPHA:93926
HP:0000598	Abnormality of the ear	2736	GLI2	ORPHA:93924
HP:0000598	Abnormality of the ear	2736	GLI2	ORPHA:93925
HP:0000598	Abnormality of the ear	2736	GLI2	ORPHA:220386
HP:0000598	Abnormality of the ear	8928	FOXH1	ORPHA:93926
HP:0000598	Abnormality of the ear	8928	FOXH1	ORPHA:93924
HP:0000598	Abnormality of the ear	8928	FOXH1	ORPHA:93925
HP:0000598	Abnormality of the ear	8928	FOXH1	ORPHA:220386
HP:0000598	Abnormality of the ear	5727	PTCH1	ORPHA:93926
HP:0000598	Abnormality of the ear	5727	PTCH1	ORPHA:93924
HP:0000598	Abnormality of the ear	5727	PTCH1	ORPHA:93925
HP:0000598	Abnormality of the ear	5727	PTCH1	ORPHA:220386
HP:0000598	Abnormality of the ear	50937	CDON	ORPHA:93926
HP:0000598	Abnormality of the ear	50937	CDON	ORPHA:93924
HP:0000598	Abnormality of the ear	50937	CDON	ORPHA:93925
HP:0000598	Abnormality of the ear	50937	CDON	ORPHA:220386
HP:0000598	Abnormality of the ear	5376	PMP22	ORPHA:90658
HP:0000598	Abnormality of the ear	5376	PMP22	OMIM:118300
HP:0000598	Abnormality of the ear	2260	FGFR1	ORPHA:93924
HP:0000598	Abnormality of the ear	2260	FGFR1	OMIM:147950
HP:0000598	Abnormality of the ear	2260	FGFR1	ORPHA:3157
HP:0000598	Abnormality of the ear	2260	FGFR1	ORPHA:220386
HP:0000598	Abnormality of the ear	2260	FGFR1	ORPHA:478
HP:0000598	Abnormality of the ear	8295	TRRAP	OMIM:618778
HP:0000598	Abnormality of the ear	23007	PLCH1	ORPHA:93925
HP:0000598	Abnormality of the ear	10735	STAG2	ORPHA:93925
HP:0000598	Abnormality of the ear	10735	STAG2	OMIM:301022
HP:0000598	Abnormality of the ear	10735	STAG2	ORPHA:220386
HP:0000598	Abnormality of the ear	4747	NEFL	ORPHA:101085
HP:0000598	Abnormality of the ear	4747	NEFL	OMIM:617882
HP:0000598	Abnormality of the ear	4247	MGAT2	OMIM:212066
HP:0000598	Abnormality of the ear	1187	CLCNKA	OMIM:613090
HP:0000598	Abnormality of the ear	1188	CLCNKB	OMIM:613090
HP:0000598	Abnormality of the ear	23126	POGZ	OMIM:616364
HP:0000598	Abnormality of the ear	23126	POGZ	ORPHA:468678
HP:0000598	Abnormality of the ear	5357	PLS1	OMIM:618787
HP:0000598	Abnormality of the ear	5590	PRKCZ	ORPHA:1606
HP:0000598	Abnormality of the ear	2563	GABRD	ORPHA:1606
HP:0000598	Abnormality of the ear	23013	SPEN	ORPHA:1606
HP:0000598	Abnormality of the ear	8510	MMP23B	ORPHA:1606
HP:0000598	Abnormality of the ear	7798	LUZP1	ORPHA:1606
HP:0000598	Abnormality of the ear	6497	SKI	ORPHA:1606
HP:0000598	Abnormality of the ear	10630	PDPN	ORPHA:1606
HP:0000598	Abnormality of the ear	3339	HSPG2	ORPHA:1606
HP:0000598	Abnormality of the ear	10277	UBE4B	ORPHA:1606
HP:0000598	Abnormality of the ear	8514	KCNAB2	ORPHA:1606
HP:0000598	Abnormality of the ear	473	RERE	ORPHA:1606
HP:0000598	Abnormality of the ear	473	RERE	OMIM:616975
HP:0000598	Abnormality of the ear	54897	CASZ1	ORPHA:1606
HP:0000598	Abnormality of the ear	285362	SUMF1	ORPHA:585
HP:0000598	Abnormality of the ear	117531	TMC1	OMIM:606705
HP:0000598	Abnormality of the ear	117531	TMC1	OMIM:600974
HP:0000598	Abnormality of the ear	3766	KCNJ10	ORPHA:199343
HP:0000598	Abnormality of the ear	3766	KCNJ10	OMIM:600791
HP:0000598	Abnormality of the ear	3766	KCNJ10	OMIM:612780
HP:0000598	Abnormality of the ear	3766	KCNJ10	ORPHA:705
HP:0000598	Abnormality of the ear	124590	USH1G	OMIM:606943
HP:0000598	Abnormality of the ear	124590	USH1G	ORPHA:231169
HP:0000598	Abnormality of the ear	3773	KCNJ16	OMIM:619406
HP:0000598	Abnormality of the ear	5981	RFC1	ORPHA:504476
HP:0000598	Abnormality of the ear	1758	DMP1	ORPHA:289176
HP:0000598	Abnormality of the ear	1758	DMP1	OMIM:241520
HP:0000598	Abnormality of the ear	5167	ENPP1	ORPHA:289176
HP:0000598	Abnormality of the ear	5167	ENPP1	ORPHA:51608
HP:0000598	Abnormality of the ear	125988	MICOS13	OMIM:618329
HP:0000598	Abnormality of the ear	84131	CEP78	OMIM:617236
HP:0000598	Abnormality of the ear	84131	CEP78	ORPHA:231183
HP:0000598	Abnormality of the ear	25836	NIPBL	OMIM:122470
HP:0000598	Abnormality of the ear	25836	NIPBL	ORPHA:199
HP:0000598	Abnormality of the ear	2316	FLNA	ORPHA:1826
HP:0000598	Abnormality of the ear	2316	FLNA	OMIM:305620
HP:0000598	Abnormality of the ear	6885	MAP3K7	ORPHA:1826
HP:0000598	Abnormality of the ear	6885	MAP3K7	OMIM:617137
HP:0000598	Abnormality of the ear	2778	GNAS	ORPHA:79443
HP:0000598	Abnormality of the ear	617	BCS1L	ORPHA:123
HP:0000598	Abnormality of the ear	617	BCS1L	OMIM:262000
HP:0000598	Abnormality of the ear	25970	SH2B1	ORPHA:261197
HP:0000598	Abnormality of the ear	55151	TMEM38B	OMIM:615066
HP:0000598	Abnormality of the ear	3000	GUCY2D	OMIM:204000
HP:0000598	Abnormality of the ear	27429	HTRA2	OMIM:617248
HP:0000598	Abnormality of the ear	4001	LMNB1	ORPHA:99027
HP:0000598	Abnormality of the ear	389827	MYMK	OMIM:254940
HP:0000598	Abnormality of the ear	64132	XYLT2	OMIM:605822
HP:0000598	Abnormality of the ear	9949	AMMECR1	OMIM:300990
HP:0000598	Abnormality of the ear	4549	MT-RNR1	ORPHA:551
HP:0000598	Abnormality of the ear	4564	MT-TH	ORPHA:551
HP:0000598	Abnormality of the ear	4564	MT-TH	ORPHA:550
HP:0000598	Abnormality of the ear	3479	IGF1	ORPHA:73272
HP:0000598	Abnormality of the ear	3479	IGF1	OMIM:608747
HP:0000598	Abnormality of the ear	2074	ERCC6	OMIM:133540
HP:0000598	Abnormality of the ear	2074	ERCC6	ORPHA:1466
HP:0000598	Abnormality of the ear	2074	ERCC6	OMIM:278800
HP:0000598	Abnormality of the ear	2074	ERCC6	OMIM:214150
HP:0000598	Abnormality of the ear	4538	MT-ND4	ORPHA:550
HP:0000598	Abnormality of the ear	4538	MT-ND4	ORPHA:255210
HP:0000598	Abnormality of the ear	92840	REEP6	ORPHA:791
HP:0000598	Abnormality of the ear	6094	ROM1	ORPHA:791
HP:0000598	Abnormality of the ear	6017	RLBP1	ORPHA:791
HP:0000598	Abnormality of the ear	7401	CLRN1	ORPHA:791
HP:0000598	Abnormality of the ear	7401	CLRN1	OMIM:276902
HP:0000598	Abnormality of the ear	7401	CLRN1	ORPHA:231183
HP:0000598	Abnormality of the ear	24	ABCA4	ORPHA:791
HP:0000598	Abnormality of the ear	130557	ZNF513	ORPHA:791
HP:0000598	Abnormality of the ear	582	BBS1	ORPHA:791
HP:0000598	Abnormality of the ear	92211	CDHR1	ORPHA:791
HP:0000598	Abnormality of the ear	23568	ARL2BP	ORPHA:791
HP:0000598	Abnormality of the ear	6121	RPE65	ORPHA:791
HP:0000598	Abnormality of the ear	54806	AHI1	ORPHA:791
HP:0000598	Abnormality of the ear	6101	RP1	ORPHA:791
HP:0000598	Abnormality of the ear	3419	IDH3A	ORPHA:791
HP:0000598	Abnormality of the ear	4751	NEK2	ORPHA:791
HP:0000598	Abnormality of the ear	346007	EYS	ORPHA:791
HP:0000598	Abnormality of the ear	8100	IFT88	ORPHA:791
HP:0000598	Abnormality of the ear	23020	SNRNP200	ORPHA:791
HP:0000598	Abnormality of the ear	762	CA4	ORPHA:791
HP:0000598	Abnormality of the ear	138050	HGSNAT	ORPHA:791
HP:0000598	Abnormality of the ear	196	AHR	ORPHA:791
HP:0000598	Abnormality of the ear	3614	IMPDH1	ORPHA:791
HP:0000598	Abnormality of the ear	123016	TTC8	ORPHA:791
HP:0000598	Abnormality of the ear	6103	RPGR	ORPHA:791
HP:0000598	Abnormality of the ear	1406	CRX	ORPHA:791
HP:0000598	Abnormality of the ear	5148	PDE6G	ORPHA:791
HP:0000598	Abnormality of the ear	26160	IFT172	ORPHA:791
HP:0000598	Abnormality of the ear	26121	PRPF31	ORPHA:791
HP:0000598	Abnormality of the ear	583	BBS2	ORPHA:791
HP:0000598	Abnormality of the ear	4117	MAK	ORPHA:791
HP:0000598	Abnormality of the ear	25794	FSCN2	ORPHA:791
HP:0000598	Abnormality of the ear	375298	CERKL	ORPHA:791
HP:0000598	Abnormality of the ear	3420	IDH3B	ORPHA:791
HP:0000598	Abnormality of the ear	57670	KIAA1549	ORPHA:791
HP:0000598	Abnormality of the ear	7275	TUB	ORPHA:791
HP:0000598	Abnormality of the ear	24148	PRPF6	ORPHA:791
HP:0000598	Abnormality of the ear	23418	CRB1	ORPHA:791
HP:0000598	Abnormality of the ear	10461	MERTK	ORPHA:791
HP:0000598	Abnormality of the ear	57709	SLC7A14	ORPHA:791
HP:0000598	Abnormality of the ear	768206	PRCD	ORPHA:791
HP:0000598	Abnormality of the ear	7399	USH2A	ORPHA:791
HP:0000598	Abnormality of the ear	7399	USH2A	ORPHA:231178
HP:0000598	Abnormality of the ear	23370	ARHGEF18	ORPHA:791
HP:0000598	Abnormality of the ear	5949	RBP3	ORPHA:791
HP:0000598	Abnormality of the ear	6010	RHO	ORPHA:791
HP:0000598	Abnormality of the ear	6100	RP9	ORPHA:791
HP:0000598	Abnormality of the ear	10002	NR2E3	ORPHA:791
HP:0000598	Abnormality of the ear	9227	LRAT	ORPHA:791
HP:0000598	Abnormality of the ear	84140	FAM161A	ORPHA:791
HP:0000598	Abnormality of the ear	55812	SPATA7	ORPHA:791
HP:0000598	Abnormality of the ear	55624	POMGNT1	ORPHA:791
HP:0000598	Abnormality of the ear	79797	ZNF408	ORPHA:791
HP:0000598	Abnormality of the ear	403	ARL3	ORPHA:791
HP:0000598	Abnormality of the ear	5145	PDE6A	ORPHA:791
HP:0000598	Abnormality of the ear	10210	TOPORS	ORPHA:791
HP:0000598	Abnormality of the ear	8842	PROM1	ORPHA:791
HP:0000598	Abnormality of the ear	9128	PRPF4	ORPHA:791
HP:0000598	Abnormality of the ear	145226	RDH12	ORPHA:791
HP:0000598	Abnormality of the ear	50939	IMPG2	ORPHA:791
HP:0000598	Abnormality of the ear	8481	OFD1	ORPHA:791
HP:0000598	Abnormality of the ear	49855	SCAPER	ORPHA:791
HP:0000598	Abnormality of the ear	9742	IFT140	ORPHA:791
HP:0000598	Abnormality of the ear	2979	GUCA1B	ORPHA:791
HP:0000598	Abnormality of the ear	1259	CNGA1	ORPHA:791
HP:0000598	Abnormality of the ear	1258	CNGB1	ORPHA:791
HP:0000598	Abnormality of the ear	60509	AGBL5	ORPHA:791
HP:0000598	Abnormality of the ear	5961	PRPH2	ORPHA:791
HP:0000598	Abnormality of the ear	388939	PCARE	ORPHA:791
HP:0000598	Abnormality of the ear	7439	BEST1	ORPHA:791
HP:0000598	Abnormality of the ear	9785	DHX38	ORPHA:791
HP:0000598	Abnormality of the ear	7287	TULP1	ORPHA:791
HP:0000598	Abnormality of the ear	5995	RGR	ORPHA:791
HP:0000598	Abnormality of the ear	9129	PRPF3	ORPHA:791
HP:0000598	Abnormality of the ear	55975	KLHL7	ORPHA:791
HP:0000598	Abnormality of the ear	3617	IMPG1	ORPHA:791
HP:0000598	Abnormality of the ear	94137	RP1L1	ORPHA:791
HP:0000598	Abnormality of the ear	5158	PDE6B	ORPHA:791
HP:0000598	Abnormality of the ear	6102	RP2	ORPHA:791
HP:0000598	Abnormality of the ear	55857	KIZ	ORPHA:791
HP:0000598	Abnormality of the ear	64218	SEMA4A	ORPHA:791
HP:0000598	Abnormality of the ear	4901	NRL	ORPHA:791
HP:0000598	Abnormality of the ear	157657	CFAP418	ORPHA:791
HP:0000598	Abnormality of the ear	10594	PRPF8	ORPHA:791
HP:0000598	Abnormality of the ear	84100	ARL6	ORPHA:791
HP:0000598	Abnormality of the ear	6295	SAG	ORPHA:791
HP:0000598	Abnormality of the ear	79947	DHDDS	ORPHA:791
HP:0000598	Abnormality of the ear	79947	DHDDS	OMIM:613861
HP:0000598	Abnormality of the ear	54517	PUS7	OMIM:618342
HP:0000598	Abnormality of the ear	8573	CASK	OMIM:300749
HP:0000598	Abnormality of the ear	8573	CASK	ORPHA:163937
HP:0000598	Abnormality of the ear	8573	CASK	OMIM:300422
HP:0000598	Abnormality of the ear	5428	POLG	OMIM:258450
HP:0000598	Abnormality of the ear	5428	POLG	OMIM:607459
HP:0000598	Abnormality of the ear	5428	POLG	OMIM:603041
HP:0000598	Abnormality of the ear	5428	POLG	ORPHA:298
HP:0000598	Abnormality of the ear	5428	POLG	OMIM:157640
HP:0000598	Abnormality of the ear	5551	PRF1	ORPHA:540
HP:0000598	Abnormality of the ear	8676	STX11	ORPHA:540
HP:0000598	Abnormality of the ear	201294	UNC13D	ORPHA:540
HP:0000598	Abnormality of the ear	6813	STXBP2	ORPHA:540
HP:0000598	Abnormality of the ear	2737	GLI3	ORPHA:36
HP:0000598	Abnormality of the ear	374654	KIF7	ORPHA:36
HP:0000598	Abnormality of the ear	27125	AFF4	ORPHA:444077
HP:0000598	Abnormality of the ear	55315	SLC29A3	OMIM:602782
HP:0000598	Abnormality of the ear	10397	NDRG1	OMIM:601455
HP:0000598	Abnormality of the ear	10397	NDRG1	ORPHA:99950
HP:0000598	Abnormality of the ear	57104	PNPLA2	ORPHA:565612
HP:0000598	Abnormality of the ear	57104	PNPLA2	ORPHA:98908
HP:0000598	Abnormality of the ear	57104	PNPLA2	OMIM:610717
HP:0000598	Abnormality of the ear	55182	RNF220	OMIM:619688
HP:0000598	Abnormality of the ear	79158	GNPTAB	ORPHA:576
HP:0000598	Abnormality of the ear	7007	TECTA	OMIM:603629
HP:0000598	Abnormality of the ear	7007	TECTA	OMIM:601543
HP:0000598	Abnormality of the ear	537	ATP6AP1	OMIM:300972
HP:0000598	Abnormality of the ear	7922	SLC39A7	OMIM:619693
HP:0000598	Abnormality of the ear	3376	IARS1	ORPHA:541423
HP:0000598	Abnormality of the ear	3376	IARS1	OMIM:617093
HP:0000598	Abnormality of the ear	4647	MYO7A	OMIM:276900
HP:0000598	Abnormality of the ear	4647	MYO7A	OMIM:600060
HP:0000598	Abnormality of the ear	4647	MYO7A	ORPHA:231178
HP:0000598	Abnormality of the ear	4647	MYO7A	ORPHA:231169
HP:0000598	Abnormality of the ear	10083	USH1C	OMIM:276900
HP:0000598	Abnormality of the ear	10083	USH1C	OMIM:602092
HP:0000598	Abnormality of the ear	10083	USH1C	ORPHA:231169
HP:0000598	Abnormality of the ear	2717	GLA	ORPHA:324
HP:0000598	Abnormality of the ear	5077	PAX3	OMIM:148820
HP:0000598	Abnormality of the ear	5077	PAX3	OMIM:122880
HP:0000598	Abnormality of the ear	5077	PAX3	ORPHA:1529
HP:0000598	Abnormality of the ear	4627	MYH9	OMIM:155100
HP:0000598	Abnormality of the ear	4627	MYH9	ORPHA:182050
HP:0000598	Abnormality of the ear	5611	DNAJC3	OMIM:616192
HP:0000598	Abnormality of the ear	7809	BSND	OMIM:602522
HP:0000598	Abnormality of the ear	11342	RNF13	OMIM:618379
HP:0000598	Abnormality of the ear	11342	RNF13	ORPHA:544503
HP:0000598	Abnormality of the ear	8802	SUCLG1	ORPHA:17
HP:0000598	Abnormality of the ear	2071	ERCC3	OMIM:610651
HP:0000598	Abnormality of the ear	2071	ERCC3	ORPHA:910
HP:0000598	Abnormality of the ear	9294	S1PR2	OMIM:610419
HP:0000598	Abnormality of the ear	5137	PDE1C	OMIM:618140
HP:0000598	Abnormality of the ear	4613	MYCN	ORPHA:391641
HP:0000598	Abnormality of the ear	57187	THOC2	OMIM:300957
HP:0000598	Abnormality of the ear	84196	USP48	OMIM:620227
HP:0000598	Abnormality of the ear	5781	PTPN11	ORPHA:500
HP:0000598	Abnormality of the ear	5781	PTPN11	ORPHA:648
HP:0000598	Abnormality of the ear	5781	PTPN11	OMIM:151100
HP:0000598	Abnormality of the ear	5781	PTPN11	OMIM:163950
HP:0000598	Abnormality of the ear	673	BRAF	ORPHA:500
HP:0000598	Abnormality of the ear	673	BRAF	OMIM:613707
HP:0000598	Abnormality of the ear	673	BRAF	OMIM:163950
HP:0000598	Abnormality of the ear	25839	COG4	OMIM:618150
HP:0000598	Abnormality of the ear	493856	CISD2	OMIM:604928
HP:0000598	Abnormality of the ear	493856	CISD2	ORPHA:3463
HP:0000598	Abnormality of the ear	374879	ZNF699	OMIM:619488
HP:0000598	Abnormality of the ear	8318	CDC45	OMIM:617063
HP:0000598	Abnormality of the ear	9373	PLAA	ORPHA:521426
HP:0000598	Abnormality of the ear	100127206	MINAR2	OMIM:620238
HP:0000598	Abnormality of the ear	91662	NLRP12	OMIM:611762
HP:0000598	Abnormality of the ear	55717	WDR11	OMIM:620237
HP:0000598	Abnormality of the ear	55717	WDR11	ORPHA:478
HP:0000598	Abnormality of the ear	93587	TRMT10A	ORPHA:391408
HP:0000598	Abnormality of the ear	84919	PPP1R15B	ORPHA:391408
HP:0000598	Abnormality of the ear	84919	PPP1R15B	OMIM:616817
HP:0000598	Abnormality of the ear	6663	SOX10	OMIM:609136
HP:0000598	Abnormality of the ear	6663	SOX10	ORPHA:163746
HP:0000598	Abnormality of the ear	6663	SOX10	OMIM:613266
HP:0000598	Abnormality of the ear	6663	SOX10	ORPHA:478
HP:0000598	Abnormality of the ear	6663	SOX10	ORPHA:895
HP:0000598	Abnormality of the ear	6663	SOX10	OMIM:611584
HP:0000598	Abnormality of the ear	7169	TPM2	OMIM:108120
HP:0000598	Abnormality of the ear	55670	PEX26	ORPHA:772
HP:0000598	Abnormality of the ear	55670	PEX26	ORPHA:44
HP:0000598	Abnormality of the ear	55670	PEX26	OMIM:614873
HP:0000598	Abnormality of the ear	55670	PEX26	ORPHA:912
HP:0000598	Abnormality of the ear	5824	PEX19	ORPHA:772
HP:0000598	Abnormality of the ear	5824	PEX19	ORPHA:44
HP:0000598	Abnormality of the ear	5824	PEX19	ORPHA:912
HP:0000598	Abnormality of the ear	5828	PEX2	ORPHA:772
HP:0000598	Abnormality of the ear	5828	PEX2	ORPHA:44
HP:0000598	Abnormality of the ear	5828	PEX2	OMIM:614866
HP:0000598	Abnormality of the ear	5828	PEX2	OMIM:614867
HP:0000598	Abnormality of the ear	5828	PEX2	ORPHA:912
HP:0000598	Abnormality of the ear	8504	PEX3	ORPHA:772
HP:0000598	Abnormality of the ear	8504	PEX3	ORPHA:44
HP:0000598	Abnormality of the ear	8504	PEX3	ORPHA:912
HP:0000598	Abnormality of the ear	9409	PEX16	ORPHA:772
HP:0000598	Abnormality of the ear	9409	PEX16	ORPHA:44
HP:0000598	Abnormality of the ear	9409	PEX16	ORPHA:912
HP:0000598	Abnormality of the ear	5190	PEX6	ORPHA:772
HP:0000598	Abnormality of the ear	5190	PEX6	ORPHA:3220
HP:0000598	Abnormality of the ear	5190	PEX6	ORPHA:44
HP:0000598	Abnormality of the ear	5190	PEX6	OMIM:614863
HP:0000598	Abnormality of the ear	5190	PEX6	ORPHA:912
HP:0000598	Abnormality of the ear	5190	PEX6	OMIM:616617
HP:0000598	Abnormality of the ear	8799	PEX11B	ORPHA:772
HP:0000598	Abnormality of the ear	8799	PEX11B	ORPHA:44
HP:0000598	Abnormality of the ear	8799	PEX11B	ORPHA:912
HP:0000598	Abnormality of the ear	5830	PEX5	ORPHA:772
HP:0000598	Abnormality of the ear	5830	PEX5	ORPHA:44
HP:0000598	Abnormality of the ear	5830	PEX5	ORPHA:912
HP:0000598	Abnormality of the ear	5189	PEX1	ORPHA:772
HP:0000598	Abnormality of the ear	5189	PEX1	ORPHA:3220
HP:0000598	Abnormality of the ear	5189	PEX1	ORPHA:44
HP:0000598	Abnormality of the ear	5189	PEX1	OMIM:214100
HP:0000598	Abnormality of the ear	5189	PEX1	OMIM:234580
HP:0000598	Abnormality of the ear	5189	PEX1	OMIM:601539
HP:0000598	Abnormality of the ear	5189	PEX1	ORPHA:912
HP:0000598	Abnormality of the ear	5193	PEX12	ORPHA:772
HP:0000598	Abnormality of the ear	5193	PEX12	ORPHA:44
HP:0000598	Abnormality of the ear	5193	PEX12	ORPHA:912
HP:0000598	Abnormality of the ear	5193	PEX12	OMIM:266510
HP:0000598	Abnormality of the ear	5194	PEX13	ORPHA:772
HP:0000598	Abnormality of the ear	5194	PEX13	ORPHA:44
HP:0000598	Abnormality of the ear	5194	PEX13	ORPHA:912
HP:0000598	Abnormality of the ear	5195	PEX14	ORPHA:772
HP:0000598	Abnormality of the ear	5195	PEX14	ORPHA:44
HP:0000598	Abnormality of the ear	5195	PEX14	ORPHA:912
HP:0000598	Abnormality of the ear	5192	PEX10	ORPHA:772
HP:0000598	Abnormality of the ear	5192	PEX10	ORPHA:44
HP:0000598	Abnormality of the ear	5192	PEX10	OMIM:614871
HP:0000598	Abnormality of the ear	5192	PEX10	ORPHA:912
HP:0000598	Abnormality of the ear	2299	FOXI1	OMIM:600791
HP:0000598	Abnormality of the ear	2299	FOXI1	ORPHA:705
HP:0000598	Abnormality of the ear	5172	SLC26A4	OMIM:600791
HP:0000598	Abnormality of the ear	5172	SLC26A4	ORPHA:705
HP:0000598	Abnormality of the ear	5264	PHYH	ORPHA:773
HP:0000598	Abnormality of the ear	5264	PHYH	OMIM:266500
HP:0000598	Abnormality of the ear	5295	PIK3R1	ORPHA:3163
HP:0000598	Abnormality of the ear	5295	PIK3R1	OMIM:269880
HP:0000598	Abnormality of the ear	1716	DGUOK	OMIM:617070
HP:0000598	Abnormality of the ear	2629	GBA1	ORPHA:2072
HP:0000598	Abnormality of the ear	26276	VPS33B	OMIM:620009
HP:0000598	Abnormality of the ear	54936	ADPRS	OMIM:618170
HP:0000598	Abnormality of the ear	4860	PNP	ORPHA:760
HP:0000598	Abnormality of the ear	64802	NMNAT1	OMIM:619260
HP:0000598	Abnormality of the ear	4038	LRP4	ORPHA:3152
HP:0000598	Abnormality of the ear	50964	SOST	ORPHA:3152
HP:0000598	Abnormality of the ear	50964	SOST	ORPHA:3416
HP:0000598	Abnormality of the ear	375056	MIA3	OMIM:619269
HP:0000598	Abnormality of the ear	8022	LHX3	ORPHA:231720
HP:0000598	Abnormality of the ear	8022	LHX3	ORPHA:226307
HP:0000598	Abnormality of the ear	8022	LHX3	OMIM:221750
HP:0000598	Abnormality of the ear	51473	DCDC2	OMIM:610212
HP:0000598	Abnormality of the ear	128674	PROKR2	ORPHA:3157
HP:0000598	Abnormality of the ear	128674	PROKR2	ORPHA:478
HP:0000598	Abnormality of the ear	6657	SOX2	ORPHA:3157
HP:0000598	Abnormality of the ear	6657	SOX2	OMIM:206900
HP:0000598	Abnormality of the ear	6658	SOX3	ORPHA:3157
HP:0000598	Abnormality of the ear	9915	ARNT2	ORPHA:3157
HP:0000598	Abnormality of the ear	8820	HESX1	ORPHA:3157
HP:0000598	Abnormality of the ear	8820	HESX1	ORPHA:226307
HP:0000598	Abnormality of the ear	8820	HESX1	ORPHA:478
HP:0000598	Abnormality of the ear	5015	OTX2	ORPHA:3157
HP:0000598	Abnormality of the ear	5631	PRPS1	ORPHA:411543
HP:0000598	Abnormality of the ear	5631	PRPS1	ORPHA:411536
HP:0000598	Abnormality of the ear	5631	PRPS1	OMIM:311070
HP:0000598	Abnormality of the ear	5631	PRPS1	OMIM:304500
HP:0000598	Abnormality of the ear	5631	PRPS1	ORPHA:423479
HP:0000598	Abnormality of the ear	5631	PRPS1	OMIM:300661
HP:0000598	Abnormality of the ear	7355	SLC35A2	ORPHA:356961
HP:0000598	Abnormality of the ear	283310	OTOGL	OMIM:614944
HP:0000598	Abnormality of the ear	340990	OTOG	OMIM:614945
HP:0000598	Abnormality of the ear	79581	SLC52A2	OMIM:614707
HP:0000598	Abnormality of the ear	9241	NOG	ORPHA:3250
HP:0000598	Abnormality of the ear	9241	NOG	OMIM:611377
HP:0000598	Abnormality of the ear	8200	GDF5	ORPHA:3250
HP:0000598	Abnormality of the ear	146183	OTOA	OMIM:607039
HP:0000598	Abnormality of the ear	613	BCR	ORPHA:261330
HP:0000598	Abnormality of the ear	1399	CRKL	ORPHA:261330
HP:0000598	Abnormality of the ear	5594	MAPK1	ORPHA:261330
HP:0000598	Abnormality of the ear	63916	ELMO2	ORPHA:3019
HP:0000598	Abnormality of the ear	1717	DHCR7	ORPHA:818
HP:0000598	Abnormality of the ear	375611	SLC26A5	OMIM:613865
HP:0000598	Abnormality of the ear	4758	NEU1	ORPHA:812
HP:0000598	Abnormality of the ear	4758	NEU1	OMIM:256550
HP:0000598	Abnormality of the ear	429	ASCL1	ORPHA:99803
HP:0000598	Abnormality of the ear	8929	PHOX2B	ORPHA:99803
HP:0000598	Abnormality of the ear	29072	SETD2	OMIM:620155
HP:0000598	Abnormality of the ear	87178	PNPT1	ORPHA:319514
HP:0000598	Abnormality of the ear	87178	PNPT1	OMIM:614932
HP:0000598	Abnormality of the ear	525	ATP6V1B1	OMIM:267300
HP:0000598	Abnormality of the ear	6197	RPS6KA3	OMIM:303600
HP:0000598	Abnormality of the ear	6197	RPS6KA3	ORPHA:192
HP:0000598	Abnormality of the ear	645104	CLRN2	OMIM:619174
HP:0000598	Abnormality of the ear	2483	FRG1	OMIM:158900
HP:0000598	Abnormality of the ear	2483	FRG1	ORPHA:269
HP:0000598	Abnormality of the ear	92579	G6PC3	OMIM:612541
HP:0000598	Abnormality of the ear	29967	LRP12	OMIM:164310
HP:0000598	Abnormality of the ear	546	ATRX	ORPHA:847
HP:0000598	Abnormality of the ear	546	ATRX	OMIM:309580
HP:0000598	Abnormality of the ear	546	ATRX	OMIM:301040
HP:0000598	Abnormality of the ear	54675	CRLS1	OMIM:620167
HP:0000598	Abnormality of the ear	1690	COCH	OMIM:618094
HP:0000598	Abnormality of the ear	57531	HACE1	ORPHA:464282
HP:0000598	Abnormality of the ear	57531	HACE1	OMIM:616756
HP:0000598	Abnormality of the ear	9750	RIPOR2	OMIM:607017
HP:0000598	Abnormality of the ear	9839	ZEB2	ORPHA:261552
HP:0000598	Abnormality of the ear	9839	ZEB2	ORPHA:261537
HP:0000598	Abnormality of the ear	7156	TOP3A	OMIM:618098
HP:0000598	Abnormality of the ear	6999	TDO2	OMIM:600627
HP:0000598	Abnormality of the ear	10682	EBP	ORPHA:35173
HP:0000598	Abnormality of the ear	1954	MEGF8	OMIM:614976
HP:0000598	Abnormality of the ear	1729	DIAPH1	OMIM:124900
HP:0000598	Abnormality of the ear	84300	UQCC2	OMIM:615824
HP:0000598	Abnormality of the ear	55636	CHD7	OMIM:214800
HP:0000598	Abnormality of the ear	55636	CHD7	OMIM:612370
HP:0000598	Abnormality of the ear	55636	CHD7	ORPHA:478
HP:0000598	Abnormality of the ear	4036	LRP2	ORPHA:2143
HP:0000598	Abnormality of the ear	4036	LRP2	OMIM:222448
HP:0000598	Abnormality of the ear	25942	SIN3A	OMIM:613406
HP:0000598	Abnormality of the ear	53834	FGFRL1	OMIM:194190
HP:0000598	Abnormality of the ear	1487	CTBP1	OMIM:194190
HP:0000598	Abnormality of the ear	3954	LETM1	OMIM:194190
HP:0000598	Abnormality of the ear	7468	NSD2	OMIM:194190
HP:0000598	Abnormality of the ear	10815	CPLX1	OMIM:194190
HP:0000598	Abnormality of the ear	84947	SERAC1	OMIM:614739
HP:0000598	Abnormality of the ear	54496	PRMT7	ORPHA:464288
HP:0000598	Abnormality of the ear	113278	SLC52A3	OMIM:211530
HP:0000598	Abnormality of the ear	6234	RPS28	OMIM:606164
HP:0000598	Abnormality of the ear	9653	HS2ST1	OMIM:619194
HP:0000598	Abnormality of the ear	5626	PROP1	ORPHA:226307
HP:0000598	Abnormality of the ear	89884	LHX4	ORPHA:226307
HP:0000598	Abnormality of the ear	5449	POU1F1	ORPHA:226307
HP:0000598	Abnormality of the ear	10908	PNPLA6	ORPHA:2377
HP:0000598	Abnormality of the ear	3211	HOXB1	OMIM:614744
HP:0000598	Abnormality of the ear	2122	MECOM	ORPHA:71289
HP:0000598	Abnormality of the ear	2122	MECOM	OMIM:616738
HP:0000598	Abnormality of the ear	3207	HOXA11	ORPHA:71289
HP:0000598	Abnormality of the ear	3207	HOXA11	OMIM:605432
HP:0000598	Abnormality of the ear	2624	GATA2	ORPHA:3226
HP:0000598	Abnormality of the ear	90665	TBL1Y	OMIM:400047
HP:0000598	Abnormality of the ear	4094	MAF	ORPHA:1272
HP:0000598	Abnormality of the ear	4094	MAF	OMIM:601088
HP:0000598	Abnormality of the ear	440138	ALG11	OMIM:613661
HP:0000598	Abnormality of the ear	2255	FGF10	ORPHA:2363
HP:0000598	Abnormality of the ear	695	BTK	ORPHA:47
HP:0000598	Abnormality of the ear	427	ASAH1	ORPHA:2590
HP:0000598	Abnormality of the ear	286676	ILDR1	OMIM:609646
HP:0000598	Abnormality of the ear	2707	GJB3	OMIM:220290
HP:0000598	Abnormality of the ear	51322	WAC	OMIM:616708
HP:0000598	Abnormality of the ear	9455	HOMER2	OMIM:616707
HP:0000598	Abnormality of the ear	4233	MET	OMIM:616705
HP:0000598	Abnormality of the ear	4556	MT-TE	ORPHA:2596
HP:0000598	Abnormality of the ear	4556	MT-TE	ORPHA:225
HP:0000598	Abnormality of the ear	147372	CCBE1	OMIM:235510
HP:0000598	Abnormality of the ear	84188	FAR1	ORPHA:447753
HP:0000598	Abnormality of the ear	5832	ALDH18A1	ORPHA:447753
HP:0000598	Abnormality of the ear	56652	TWNK	OMIM:607459
HP:0000598	Abnormality of the ear	355	FAS	ORPHA:3437
HP:0000598	Abnormality of the ear	26191	PTPN22	ORPHA:3437
HP:0000598	Abnormality of the ear	26191	PTPN22	ORPHA:900
HP:0000598	Abnormality of the ear	57165	GJC2	OMIM:613206
HP:0000598	Abnormality of the ear	57165	GJC2	ORPHA:320401
HP:0000598	Abnormality of the ear	57724	EPG5	ORPHA:1493
HP:0000598	Abnormality of the ear	57724	EPG5	OMIM:242840
HP:0000598	Abnormality of the ear	3371	TNC	OMIM:615629
HP:0000598	Abnormality of the ear	152137	CCDC50	OMIM:607453
HP:0000598	Abnormality of the ear	1288	COL4A6	ORPHA:1018
HP:0000598	Abnormality of the ear	1287	COL4A5	ORPHA:1018
HP:0000598	Abnormality of the ear	1287	COL4A5	OMIM:301050
HP:0000598	Abnormality of the ear	91949	COG7	OMIM:608779
HP:0000598	Abnormality of the ear	124997	WDR81	OMIM:610185
HP:0000598	Abnormality of the ear	132	ADK	OMIM:614300
HP:0000598	Abnormality of the ear	79848	CSPP1	OMIM:615636
HP:0000598	Abnormality of the ear	8943	AP3D1	ORPHA:1000
HP:0000598	Abnormality of the ear	8763	CD164	OMIM:616969
HP:0000598	Abnormality of the ear	1776	DNASE1L3	ORPHA:36412
HP:0000598	Abnormality of the ear	4010	LMX1B	OMIM:161200
HP:0000598	Abnormality of the ear	7317	UBA1	OMIM:301054
HP:0000598	Abnormality of the ear	54931	TRMT10C	OMIM:616974
HP:0000598	Abnormality of the ear	4041	LRP5	ORPHA:3416
HP:0000598	Abnormality of the ear	4041	LRP5	ORPHA:2790
HP:0000598	Abnormality of the ear	4041	LRP5	OMIM:144750
HP:0000598	Abnormality of the ear	2782	GNB1	OMIM:616973
HP:0000598	Abnormality of the ear	4893	NRAS	OMIM:613224
HP:0000598	Abnormality of the ear	4893	NRAS	ORPHA:648
HP:0000598	Abnormality of the ear	4363	ABCC1	OMIM:618915
HP:0000598	Abnormality of the ear	169792	GLIS3	OMIM:610199
HP:0000598	Abnormality of the ear	7403	KDM6A	ORPHA:2322
HP:0000598	Abnormality of the ear	998	CDC42	OMIM:616737
HP:0000598	Abnormality of the ear	10413	YAP1	ORPHA:1473
HP:0000598	Abnormality of the ear	50	ACO2	OMIM:614559
HP:0000598	Abnormality of the ear	2239	GPC4	OMIM:301026
HP:0000598	Abnormality of the ear	2239	GPC4	ORPHA:2662
HP:0000598	Abnormality of the ear	27235	COQ2	OMIM:607426
HP:0000598	Abnormality of the ear	10560	SLC19A2	OMIM:249270
HP:0000598	Abnormality of the ear	10560	SLC19A2	ORPHA:49827
HP:0000598	Abnormality of the ear	2068	ERCC2	ORPHA:1466
HP:0000598	Abnormality of the ear	2068	ERCC2	ORPHA:910
HP:0000598	Abnormality of the ear	2068	ERCC2	OMIM:278730
HP:0000598	Abnormality of the ear	2067	ERCC1	ORPHA:1466
HP:0000598	Abnormality of the ear	2073	ERCC5	ORPHA:1466
HP:0000598	Abnormality of the ear	2073	ERCC5	ORPHA:910
HP:0000598	Abnormality of the ear	60	ACTB	ORPHA:79107
HP:0000598	Abnormality of the ear	60	ACTB	OMIM:243310
HP:0000598	Abnormality of the ear	60	ACTB	OMIM:607371
HP:0000598	Abnormality of the ear	4982	TNFRSF11B	OMIM:239000
HP:0000598	Abnormality of the ear	8985	PLOD3	OMIM:612394
HP:0000598	Abnormality of the ear	80736	SLC44A4	OMIM:617606
HP:0000598	Abnormality of the ear	23312	DMXL2	OMIM:617605
HP:0000598	Abnormality of the ear	23312	DMXL2	OMIM:618663
HP:0000598	Abnormality of the ear	23476	BRD4	ORPHA:199
HP:0000598	Abnormality of the ear	9126	SMC3	ORPHA:199
HP:0000598	Abnormality of the ear	8243	SMC1A	ORPHA:199
HP:0000598	Abnormality of the ear	8243	SMC1A	ORPHA:220386
HP:0000598	Abnormality of the ear	55869	HDAC8	ORPHA:199
HP:0000598	Abnormality of the ear	5885	RAD21	ORPHA:199
HP:0000598	Abnormality of the ear	157680	VPS13B	ORPHA:193
HP:0000598	Abnormality of the ear	368	ABCC6	ORPHA:51608
HP:0000598	Abnormality of the ear	1213	CLTC	OMIM:617854
HP:0000598	Abnormality of the ear	51520	LARS1	OMIM:615438
HP:0000598	Abnormality of the ear	1890	TYMP	OMIM:603041
HP:0000598	Abnormality of the ear	1890	TYMP	ORPHA:298
HP:0000598	Abnormality of the ear	3425	IDUA	ORPHA:93474
HP:0000598	Abnormality of the ear	3425	IDUA	ORPHA:93476
HP:0000598	Abnormality of the ear	6134	RPL10	ORPHA:435938
HP:0000598	Abnormality of the ear	6134	RPL10	ORPHA:459070
HP:0000598	Abnormality of the ear	60528	ELAC2	OMIM:615440
HP:0000598	Abnormality of the ear	491	ATP2B2	OMIM:619804
HP:0000598	Abnormality of the ear	28957	MRPS28	OMIM:618958
HP:0000598	Abnormality of the ear	60482	SLC5A7	ORPHA:98914
HP:0000598	Abnormality of the ear	4649	MYO9A	ORPHA:98914
HP:0000598	Abnormality of the ear	1305	COL13A1	ORPHA:98914
HP:0000598	Abnormality of the ear	1103	CHAT	ORPHA:98914
HP:0000598	Abnormality of the ear	6576	SLC25A1	ORPHA:98914
HP:0000598	Abnormality of the ear	6843	VAMP1	ORPHA:98914
HP:0000598	Abnormality of the ear	375790	AGRN	ORPHA:98914
HP:0000598	Abnormality of the ear	127833	SYT2	ORPHA:98914
HP:0000598	Abnormality of the ear	6572	SLC18A3	ORPHA:98914
HP:0000598	Abnormality of the ear	6616	SNAP25	ORPHA:98914
HP:0000598	Abnormality of the ear	652	BMP4	ORPHA:139471
HP:0000598	Abnormality of the ear	7518	XRCC4	OMIM:616541
HP:0000598	Abnormality of the ear	4724	NDUFS4	OMIM:252010
HP:0000598	Abnormality of the ear	4724	NDUFS4	ORPHA:2609
HP:0000598	Abnormality of the ear	8192	CLPP	OMIM:614129
HP:0000598	Abnormality of the ear	5879	RAC1	ORPHA:500159
HP:0000598	Abnormality of the ear	5879	RAC1	OMIM:617751
HP:0000598	Abnormality of the ear	23250	ATP11A	OMIM:619810
HP:0000598	Abnormality of the ear	8777	MPDZ	OMIM:615219
HP:0000598	Abnormality of the ear	10383	TUBB4B	OMIM:617879
HP:0000598	Abnormality of the ear	1285	COL4A3	OMIM:104200
HP:0000598	Abnormality of the ear	1302	COL11A2	ORPHA:1427
HP:0000598	Abnormality of the ear	1302	COL11A2	OMIM:184840
HP:0000598	Abnormality of the ear	1302	COL11A2	ORPHA:166100
HP:0000598	Abnormality of the ear	1302	COL11A2	OMIM:601868
HP:0000598	Abnormality of the ear	1302	COL11A2	OMIM:215150
HP:0000598	Abnormality of the ear	1302	COL11A2	OMIM:609706
HP:0000598	Abnormality of the ear	5286	PIK3C2A	ORPHA:557003
HP:0000598	Abnormality of the ear	55553	SOX6	OMIM:618971
HP:0000598	Abnormality of the ear	64221	ROBO3	ORPHA:2744
HP:0000598	Abnormality of the ear	1630	DCC	ORPHA:2744
HP:0000598	Abnormality of the ear	1630	DCC	ORPHA:478
HP:0000598	Abnormality of the ear	8626	TP63	ORPHA:1896
HP:0000598	Abnormality of the ear	8626	TP63	ORPHA:2440
HP:0000598	Abnormality of the ear	16	AARS1	OMIM:613287
HP:0000598	Abnormality of the ear	1297	COL9A1	OMIM:614134
HP:0000598	Abnormality of the ear	1297	COL9A1	ORPHA:250984
HP:0000598	Abnormality of the ear	8449	DHX16	OMIM:618733
HP:0000598	Abnormality of the ear	4014	LORICRIN	ORPHA:79395
HP:0000598	Abnormality of the ear	9381	OTOF	OMIM:601071
HP:0000598	Abnormality of the ear	64699	TMPRSS3	OMIM:601072
HP:0000598	Abnormality of the ear	54539	NDUFB11	ORPHA:2609
HP:0000598	Abnormality of the ear	25915	NDUFAF3	ORPHA:2609
HP:0000598	Abnormality of the ear	51103	NDUFAF1	ORPHA:2609
HP:0000598	Abnormality of the ear	91942	NDUFAF2	ORPHA:2609
HP:0000598	Abnormality of the ear	51300	TIMMDC1	ORPHA:2609
HP:0000598	Abnormality of the ear	51300	TIMMDC1	OMIM:618251
HP:0000598	Abnormality of the ear	4716	NDUFB10	ORPHA:2609
HP:0000598	Abnormality of the ear	4723	NDUFV1	ORPHA:2609
HP:0000598	Abnormality of the ear	55572	FOXRED1	ORPHA:2609
HP:0000598	Abnormality of the ear	284184	NDUFAF8	ORPHA:2609
HP:0000598	Abnormality of the ear	55863	TMEM126B	ORPHA:2609
HP:0000598	Abnormality of the ear	4537	MT-ND3	ORPHA:2609
HP:0000598	Abnormality of the ear	4537	MT-ND3	ORPHA:255210
HP:0000598	Abnormality of the ear	4729	NDUFV2	ORPHA:2609
HP:0000598	Abnormality of the ear	4720	NDUFS2	ORPHA:2609
HP:0000598	Abnormality of the ear	4726	NDUFS6	ORPHA:2609
HP:0000598	Abnormality of the ear	4728	NDUFS8	ORPHA:2609
HP:0000598	Abnormality of the ear	4722	NDUFS3	ORPHA:2609
HP:0000598	Abnormality of the ear	79133	NDUFAF5	ORPHA:2609
HP:0000598	Abnormality of the ear	126328	NDUFA11	ORPHA:2609
HP:0000598	Abnormality of the ear	4709	NDUFB3	ORPHA:2609
HP:0000598	Abnormality of the ear	80224	NUBPL	ORPHA:2609
HP:0000598	Abnormality of the ear	29078	NDUFAF4	ORPHA:2609
HP:0000598	Abnormality of the ear	374291	NDUFS7	ORPHA:2609
HP:0000598	Abnormality of the ear	4700	NDUFA6	ORPHA:2609
HP:0000598	Abnormality of the ear	4536	MT-ND2	ORPHA:2609
HP:0000598	Abnormality of the ear	4536	MT-ND2	ORPHA:255210
HP:0000598	Abnormality of the ear	4719	NDUFS1	ORPHA:2609
HP:0000598	Abnormality of the ear	4715	NDUFB9	ORPHA:2609
HP:0000598	Abnormality of the ear	29925	GMPPB	OMIM:615350
HP:0000598	Abnormality of the ear	6834	SURF1	OMIM:616684
HP:0000598	Abnormality of the ear	6834	SURF1	OMIM:220110
HP:0000598	Abnormality of the ear	56172	ANKH	ORPHA:1522
HP:0000598	Abnormality of the ear	1947	EFNB1	ORPHA:1520
HP:0000598	Abnormality of the ear	4693	NDP	OMIM:310600
HP:0000598	Abnormality of the ear	4693	NDP	ORPHA:649
HP:0000598	Abnormality of the ear	22947	DUX4L1	ORPHA:269
HP:0000598	Abnormality of the ear	1789	DNMT3B	ORPHA:269
HP:0000598	Abnormality of the ear	23347	SMCHD1	ORPHA:269
HP:0000598	Abnormality of the ear	100288687	DUX4	ORPHA:269
HP:0000598	Abnormality of the ear	4508	MT-ATP6	ORPHA:255210
HP:0000598	Abnormality of the ear	267010	RNU12	OMIM:603116
HP:0000598	Abnormality of the ear	23562	CLDN14	OMIM:614035
HP:0000598	Abnormality of the ear	4254	KITLG	OMIM:616697
HP:0000598	Abnormality of the ear	4254	KITLG	ORPHA:895
HP:0000598	Abnormality of the ear	4254	KITLG	OMIM:619947
HP:0000598	Abnormality of the ear	128486	FITM2	OMIM:618635
HP:0000598	Abnormality of the ear	3980	LIG3	ORPHA:298
HP:0000598	Abnormality of the ear	50484	RRM2B	ORPHA:298
HP:0000598	Abnormality of the ear	50484	RRM2B	OMIM:268315
HP:0000598	Abnormality of the ear	80153	EDC3	OMIM:616460
HP:0000598	Abnormality of the ear	1600	DAB1	ORPHA:363710
HP:0000598	Abnormality of the ear	55870	ASH1L	OMIM:617796
HP:0000598	Abnormality of the ear	1298	COL9A2	OMIM:614284
HP:0000598	Abnormality of the ear	1298	COL9A2	ORPHA:250984
HP:0000598	Abnormality of the ear	9692	PRORP	OMIM:619737
HP:0000598	Abnormality of the ear	10381	TUBB3	ORPHA:300570
HP:0000598	Abnormality of the ear	23761	PISD	OMIM:618889
HP:0000598	Abnormality of the ear	83480	PUS3	ORPHA:488627
HP:0000598	Abnormality of the ear	7020	TFAP2A	OMIM:113620
HP:0000598	Abnormality of the ear	22884	WDR37	OMIM:618652
HP:0000598	Abnormality of the ear	388551	CEACAM16	OMIM:618410
HP:0000598	Abnormality of the ear	388551	CEACAM16	OMIM:614614
HP:0000598	Abnormality of the ear	84173	ELMOD3	OMIM:619500
HP:0000598	Abnormality of the ear	5424	POLD1	OMIM:615381
HP:0000598	Abnormality of the ear	26284	ERAL1	OMIM:617565
HP:0000598	Abnormality of the ear	55012	PPP2R3C	OMIM:618419
HP:0000598	Abnormality of the ear	93627	TBCK	ORPHA:488632
HP:0000598	Abnormality of the ear	595	CCND1	OMIM:193300
HP:0000598	Abnormality of the ear	7428	VHL	OMIM:193300
HP:0000598	Abnormality of the ear	8642	DCHS1	OMIM:601390
HP:0000598	Abnormality of the ear	2296	FOXC1	OMIM:602482
HP:0000598	Abnormality of the ear	3476	IGBP1	ORPHA:52055
HP:0000598	Abnormality of the ear	3476	IGBP1	OMIM:300472
HP:0000598	Abnormality of the ear	57167	SALL4	ORPHA:233
HP:0000598	Abnormality of the ear	57167	SALL4	ORPHA:959
HP:0000598	Abnormality of the ear	57167	SALL4	OMIM:607323
HP:0000598	Abnormality of the ear	9935	MAFB	ORPHA:233
HP:0000598	Abnormality of the ear	1123	CHN1	ORPHA:233
HP:0000598	Abnormality of the ear	23262	PPIP5K2	OMIM:618422
HP:0000598	Abnormality of the ear	1182	CLCN3	OMIM:619512
HP:0000598	Abnormality of the ear	85301	COL27A1	OMIM:615155
HP:0000598	Abnormality of the ear	8879	SGPL1	OMIM:617575
HP:0000598	Abnormality of the ear	9453	GGPS1	OMIM:619518
HP:0000598	Abnormality of the ear	59335	PRDM12	OMIM:616488
HP:0000598	Abnormality of the ear	9786	KIAA0586	OMIM:616490
HP:0000598	Abnormality of the ear	4286	MITF	OMIM:193510
HP:0000598	Abnormality of the ear	4286	MITF	ORPHA:895
HP:0000598	Abnormality of the ear	4849	CNOT3	OMIM:618672
HP:0000598	Abnormality of the ear	9158	FIBP	OMIM:617107
HP:0000598	Abnormality of the ear	9158	FIBP	ORPHA:500095
HP:0000598	Abnormality of the ear	57492	ARID1B	ORPHA:251056
HP:0000598	Abnormality of the ear	7841	MOGS	ORPHA:79330
HP:0000598	Abnormality of the ear	7841	MOGS	OMIM:606056
HP:0000598	Abnormality of the ear	11107	PRDM5	ORPHA:90354
HP:0000598	Abnormality of the ear	84627	ZNF469	ORPHA:90354
HP:0000598	Abnormality of the ear	51651	PTRH2	OMIM:616263
HP:0000598	Abnormality of the ear	51651	PTRH2	ORPHA:456312
HP:0000598	Abnormality of the ear	85365	ALG2	OMIM:607906
HP:0000598	Abnormality of the ear	79977	GRHL2	OMIM:616029
HP:0000598	Abnormality of the ear	79977	GRHL2	OMIM:608641
HP:0000598	Abnormality of the ear	2317	FLNB	OMIM:272460
HP:0000598	Abnormality of the ear	79087	ALG12	ORPHA:79324
HP:0000598	Abnormality of the ear	79087	ALG12	OMIM:607143
HP:0000598	Abnormality of the ear	9896	FIG4	OMIM:216340
HP:0000598	Abnormality of the ear	1749	DLX5	OMIM:220600
HP:0000598	Abnormality of the ear	1749	DLX5	ORPHA:2440
HP:0000598	Abnormality of the ear	10750	GRAP	OMIM:618456
HP:0000598	Abnormality of the ear	124976	SPNS2	OMIM:618457
HP:0000598	Abnormality of the ear	8905	AP1S2	OMIM:304340
HP:0000598	Abnormality of the ear	8803	SUCLA2	ORPHA:1933
HP:0000598	Abnormality of the ear	8803	SUCLA2	OMIM:612073
HP:0000598	Abnormality of the ear	10371	SEMA3A	ORPHA:478
HP:0000598	Abnormality of the ear	81848	SPRY4	ORPHA:478
HP:0000598	Abnormality of the ear	23767	FLRT3	ORPHA:478
HP:0000598	Abnormality of the ear	79625	NDNF	ORPHA:478
HP:0000598	Abnormality of the ear	389549	FEZF1	ORPHA:478
HP:0000598	Abnormality of the ear	3730	ANOS1	ORPHA:478
HP:0000598	Abnormality of the ear	54756	IL17RD	ORPHA:478
HP:0000598	Abnormality of the ear	285025	CCDC141	ORPHA:478
HP:0000598	Abnormality of the ear	60675	PROK2	ORPHA:478
HP:0000598	Abnormality of the ear	1848	DUSP6	ORPHA:478
HP:0000598	Abnormality of the ear	6870	TACR3	ORPHA:478
HP:0000598	Abnormality of the ear	9394	HS6ST1	ORPHA:478
HP:0000598	Abnormality of the ear	8822	FGF17	ORPHA:478
HP:0000598	Abnormality of the ear	10456	HAX1	OMIM:610738
HP:0000598	Abnormality of the ear	10466	COG5	ORPHA:263487
HP:0000598	Abnormality of the ear	53405	CLIC5	OMIM:616042
HP:0000598	Abnormality of the ear	54892	NCAPG2	OMIM:618460
HP:0000598	Abnormality of the ear	6548	SLC9A1	OMIM:616291
HP:0000598	Abnormality of the ear	1387	CREBBP	ORPHA:353281
HP:0000598	Abnormality of the ear	1387	CREBBP	ORPHA:353277
HP:0000598	Abnormality of the ear	9342	SNAP29	ORPHA:66631
HP:0000598	Abnormality of the ear	9342	SNAP29	OMIM:609528
HP:0000598	Abnormality of the ear	2033	EP300	ORPHA:353284
HP:0000598	Abnormality of the ear	51360	MBTPS2	ORPHA:659
HP:0000598	Abnormality of the ear	162514	TRPV3	ORPHA:659
HP:0000598	Abnormality of the ear	64065	PERP	ORPHA:659
HP:0000598	Abnormality of the ear	977	CD151	OMIM:609057
HP:0000598	Abnormality of the ear	79068	FTO	OMIM:612938
HP:0000598	Abnormality of the ear	10059	DNM1L	ORPHA:98673
HP:0000598	Abnormality of the ear	124842	TMEM132E	OMIM:618481
HP:0000598	Abnormality of the ear	57551	TAOK1	OMIM:619575
HP:0000598	Abnormality of the ear	79955	PDZD7	OMIM:618003
HP:0000598	Abnormality of the ear	79955	PDZD7	ORPHA:231178
HP:0000598	Abnormality of the ear	291	SLC25A4	OMIM:609283
HP:0000598	Abnormality of the ear	161497	STRC	ORPHA:94064
HP:0000598	Abnormality of the ear	161497	STRC	OMIM:603720
HP:0000598	Abnormality of the ear	117155	CATSPER2	ORPHA:94064
HP:0000598	Abnormality of the ear	2070	EYA4	OMIM:601316
HP:0000598	Abnormality of the ear	2070	EYA4	OMIM:605362
HP:0000598	Abnormality of the ear	55814	BDP1	OMIM:618257
HP:0000598	Abnormality of the ear	2705	GJB1	OMIM:302800
HP:0000598	Abnormality of the ear	8635	RNASET2	OMIM:612951
HP:0000598	Abnormality of the ear	4990	SIX6	OMIM:206900
HP:0000598	Abnormality of the ear	9791	PTDSS1	OMIM:151050
HP:0000598	Abnormality of the ear	51095	TRNT1	OMIM:616084
HP:0000598	Abnormality of the ear	4629	MYH11	OMIM:619351
HP:0000598	Abnormality of the ear	25861	WHRN	OMIM:607084
HP:0000598	Abnormality of the ear	25861	WHRN	ORPHA:231178
HP:0000598	Abnormality of the ear	29926	GMPPA	ORPHA:869
HP:0000598	Abnormality of the ear	60684	TRAPPC11	ORPHA:869
HP:0000598	Abnormality of the ear	8086	AAAS	ORPHA:869
HP:0000598	Abnormality of the ear	3198	HOXA1	OMIM:601536
HP:0000598	Abnormality of the ear	51715	RAB23	OMIM:201000
HP:0000598	Abnormality of the ear	55755	CDK5RAP2	OMIM:604804
HP:0000598	Abnormality of the ear	23516	SLC39A14	OMIM:144755
HP:0000598	Abnormality of the ear	4222	MEOX1	OMIM:214300
HP:0000598	Abnormality of the ear	9759	HDAC4	OMIM:600430
HP:0000598	Abnormality of the ear	7299	TYR	ORPHA:895
HP:0000598	Abnormality of the ear	6591	SNAI2	ORPHA:895
HP:0000598	Abnormality of the ear	22800	RRAS2	ORPHA:648
HP:0000598	Abnormality of the ear	867	CBL	ORPHA:648
HP:0000598	Abnormality of the ear	8216	LZTR1	ORPHA:648
HP:0000598	Abnormality of the ear	6016	RIT1	ORPHA:648
HP:0000598	Abnormality of the ear	6237	RRAS	ORPHA:648
HP:0000598	Abnormality of the ear	22808	MRAS	ORPHA:648
HP:0000598	Abnormality of the ear	3845	KRAS	ORPHA:648
HP:0000598	Abnormality of the ear	200734	SPRED2	ORPHA:648
HP:0000598	Abnormality of the ear	6654	SOS1	ORPHA:648
HP:0000598	Abnormality of the ear	6655	SOS2	ORPHA:648
HP:0000598	Abnormality of the ear	5922	RASA2	ORPHA:648
HP:0000598	Abnormality of the ear	83715	ESPN	OMIM:609006
HP:0000598	Abnormality of the ear	83715	ESPN	ORPHA:231169
HP:0000598	Abnormality of the ear	23438	HARS2	OMIM:614926
HP:0000598	Abnormality of the ear	84233	TMEM126A	OMIM:612989
HP:0000598	Abnormality of the ear	5076	PAX2	OMIM:120330
HP:0000598	Abnormality of the ear	4668	NAGA	OMIM:609242
HP:0000598	Abnormality of the ear	8665	EIF3F	OMIM:618295
HP:0000598	Abnormality of the ear	27183	VPS4A	OMIM:619273
HP:0000598	Abnormality of the ear	84189	SLITRK6	OMIM:221200
HP:0000598	Abnormality of the ear	10134	BCAP31	OMIM:300475
HP:0000598	Abnormality of the ear	126326	GIPC3	OMIM:601869
HP:0000598	Abnormality of the ear	146227	BEAN1	OMIM:117210
HP:0000598	Abnormality of the ear	4570	MT-TN	OMIM:220110
HP:0000598	Abnormality of the ear	59341	TRPV4	OMIM:606071
HP:0000598	Abnormality of the ear	494513	PJVK	OMIM:610220
HP:0000598	Abnormality of the ear	400916	CHCHD10	OMIM:615911
HP:0000598	Abnormality of the ear	95	ACY1	ORPHA:137754
HP:0000598	Abnormality of the ear	95	ACY1	OMIM:609924
HP:0000598	Abnormality of the ear	10992	SF3B2	OMIM:164210
HP:0000598	Abnormality of the ear	5111	PCNA	OMIM:615919
HP:0000598	Abnormality of the ear	1299	COL9A3	OMIM:620022
HP:0000598	Abnormality of the ear	1299	COL9A3	ORPHA:250984
HP:0000598	Abnormality of the ear	162	AP1B1	OMIM:242150
HP:0000598	Abnormality of the ear	1352	COX10	OMIM:619046
HP:0000598	Abnormality of the ear	686	BTD	OMIM:253260
HP:0000598	Abnormality of the ear	686	BTD	ORPHA:79241
HP:0000598	Abnormality of the ear	7080	NKX2-1	ORPHA:209905
HP:0000598	Abnormality of the ear	7276	TTR	OMIM:105210
HP:0000598	Abnormality of the ear	132158	GLYCTK	OMIM:220120
HP:0000598	Abnormality of the ear	26090	ABHD12	OMIM:612674
HP:0000598	Abnormality of the ear	5978	REST	OMIM:612431
HP:0000598	Abnormality of the ear	1174	AP1S1	OMIM:609313
HP:0000598	Abnormality of the ear	4953	ODC1	OMIM:619075
HP:0000598	Abnormality of the ear	4953	ODC1	ORPHA:544488
HP:0000598	Abnormality of the ear	5251	PHEX	ORPHA:89936
HP:0000598	Abnormality of the ear	392255	GDF6	OMIM:118100
HP:0000598	Abnormality of the ear	3028	HSD17B10	OMIM:300438
HP:0000598	Abnormality of the ear	54084	TSPEAR	OMIM:614861
HP:0000598	Abnormality of the ear	222662	LHFPL5	OMIM:610265
HP:0000598	Abnormality of the ear	6804	STX1A	ORPHA:904
HP:0000598	Abnormality of the ear	7461	CLIP2	ORPHA:904
HP:0000598	Abnormality of the ear	84277	DNAJC30	ORPHA:904
HP:0000598	Abnormality of the ear	8468	FKBP6	ORPHA:904
HP:0000598	Abnormality of the ear	5982	RFC2	ORPHA:904
HP:0000598	Abnormality of the ear	2969	GTF2I	ORPHA:904
HP:0000598	Abnormality of the ear	3984	LIMK1	ORPHA:904
HP:0000598	Abnormality of the ear	9569	GTF2IRD1	ORPHA:904
HP:0000598	Abnormality of the ear	155382	VPS37D	ORPHA:904
HP:0000598	Abnormality of the ear	155368	METTL27	ORPHA:904
HP:0000598	Abnormality of the ear	114049	BUD23	ORPHA:904
HP:0000598	Abnormality of the ear	7458	EIF4H	ORPHA:904
HP:0000598	Abnormality of the ear	84163	GTF2IRD2	ORPHA:904
HP:0000598	Abnormality of the ear	9275	BCL7B	ORPHA:904
HP:0000598	Abnormality of the ear	26608	TBL2	ORPHA:904
HP:0000598	Abnormality of the ear	653361	NCF1	ORPHA:904
HP:0000598	Abnormality of the ear	135886	TMEM270	ORPHA:904
HP:0000598	Abnormality of the ear	51085	MLXIPL	ORPHA:904
HP:0000598	Abnormality of the ear	51085	MLXIPL	OMIM:194050
HP:0000598	Abnormality of the ear	9031	BAZ1B	ORPHA:904
HP:0000598	Abnormality of the ear	2006	ELN	ORPHA:904
HP:0000598	Abnormality of the ear	2006	ELN	OMIM:194050
HP:0000598	Abnormality of the ear	1493	CTLA4	ORPHA:900
HP:0000598	Abnormality of the ear	3115	HLA-DPB1	ORPHA:900
HP:0000598	Abnormality of the ear	5657	PRTN3	ORPHA:900
HP:0000598	Abnormality of the ear	3113	HLA-DPA1	ORPHA:900
HP:0000598	Abnormality of the ear	5159	PDGFRB	OMIM:601812
HP:0000598	Abnormality of the ear	5591	PRKDC	OMIM:615966
HP:0000598	Abnormality of the ear	65217	PCDH15	OMIM:609533
HP:0000598	Abnormality of the ear	65217	PCDH15	ORPHA:231169
HP:0000598	Abnormality of the ear	10430	TMEM147	OMIM:620075
HP:0000598	Abnormality of the ear	9080	CLDN9	OMIM:619093
HP:0000598	Abnormality of the ear	9939	RBM8A	ORPHA:3320
HP:0000598	Abnormality of the ear	50945	TBX22	ORPHA:921
HP:0000598	Abnormality of the ear	92154	MTSS2	OMIM:620086
HP:0000598	Abnormality of the ear	80067	DCAF17	OMIM:241080
HP:0000598	Abnormality of the ear	51004	COQ6	OMIM:614650
HP:0000598	Abnormality of the ear	2702	GJA5	OMIM:612474
HP:0000598	Abnormality of the ear	2703	GJA8	OMIM:612474
HP:0000598	Abnormality of the ear	170302	ARX	OMIM:300419
HP:0000598	Abnormality of the ear	84695	LOXL3	ORPHA:250984
HP:0000598	Abnormality of the ear	79628	SH3TC2	ORPHA:99949
HP:0000598	Abnormality of the ear	9927	MFN2	ORPHA:99947
HP:0000598	Abnormality of the ear	7507	XPA	ORPHA:910
HP:0000598	Abnormality of the ear	7507	XPA	OMIM:278700
HP:0000598	Abnormality of the ear	7508	XPC	ORPHA:910
HP:0000598	Abnormality of the ear	1643	DDB2	ORPHA:910
HP:0000598	Abnormality of the ear	2072	ERCC4	ORPHA:910
HP:0000598	Abnormality of the ear	9420	CYP7B1	ORPHA:100986
HP:0000598	Abnormality of the ear	9420	CYP7B1	OMIM:270800
HP:0000598	Abnormality of the ear	57704	GBA2	ORPHA:352641
HP:0000598	Abnormality of the ear	7545	ZIC1	OMIM:616602
HP:0000598	Abnormality of the ear	8556	CDC14A	OMIM:608653
HP:0000598	Abnormality of the ear	57465	TBC1D24	OMIM:220500
HP:0000598	Abnormality of the ear	6731	SRP72	OMIM:614675
HP:0000598	Abnormality of the ear	91869	RFT1	OMIM:612015
HP:0000598	Abnormality of the ear	1750	DLX6	ORPHA:2440
HP:0000598	Abnormality of the ear	7979	SEM1	ORPHA:2440
HP:0000598	Abnormality of the ear	8945	BTRC	ORPHA:2440
HP:0000598	Abnormality of the ear	58513	EPS15L1	ORPHA:2440
HP:0000598	Abnormality of the ear	6468	FBXW4	ORPHA:2440
HP:0000598	Abnormality of the ear	7480	WNT10B	ORPHA:2440
HP:0000598	Abnormality of the ear	51116	MRPS2	OMIM:617950
HP:0000598	Abnormality of the ear	55033	FKBP14	ORPHA:300179
HP:0000598	Abnormality of the ear	10265	IRX5	OMIM:611174
HP:0000598	Abnormality of the ear	405753	DUOXA2	ORPHA:95716
HP:0000598	Abnormality of the ear	6528	SLC5A5	ORPHA:95716
HP:0000598	Abnormality of the ear	7038	TG	ORPHA:95716
HP:0000598	Abnormality of the ear	7173	TPO	ORPHA:95716
HP:0000598	Abnormality of the ear	389434	IYD	ORPHA:95716
HP:0000598	Abnormality of the ear	50506	DUOX2	ORPHA:95716
HP:0000598	Abnormality of the ear	2058	EPRS1	OMIM:617951
HP:0000598	Abnormality of the ear	27315	PGAP2	OMIM:614207
HP:0000598	Abnormality of the ear	708	C1QBP	OMIM:617713
HP:0000598	Abnormality of the ear	128989	TANGO2	ORPHA:480864
HP:0000598	Abnormality of the ear	128989	TANGO2	OMIM:616878
HP:0000598	Abnormality of the ear	23676	SMPX	OMIM:300066
HP:0000598	Abnormality of the ear	64423	INF2	OMIM:614455
HP:0000598	Abnormality of the ear	79633	FAT4	OMIM:615546
HP:0000598	Abnormality of the ear	2584	GALK1	ORPHA:79237
HP:0000598	Abnormality of the ear	84059	ADGRV1	ORPHA:231178
HP:0000598	Abnormality of the ear	246213	SLC17A8	OMIM:605583
HP:0000598	Abnormality of the ear	51776	MAP3K20	OMIM:616890
HP:0000598	Abnormality of the ear	3295	HSD17B4	OMIM:233400
HP:0000598	Abnormality of the ear	3035	HARS1	ORPHA:231183
HP:0000598	Abnormality of the ear	10558	SPTLC1	OMIM:162400
HP:0000598	Abnormality of the ear	182	JAG1	OMIM:617992
HP:0000598	Abnormality of the ear	2990	GUSB	OMIM:253220
HP:0000598	Abnormality of the ear	5116	PCNT	ORPHA:2637
HP:0000598	Abnormality of the ear	63929	XPNPEP3	OMIM:613159
HP:0000598	Abnormality of the ear	57731	SPTBN4	OMIM:617519
HP:0000598	Abnormality of the ear	64072	CDH23	ORPHA:231169
HP:0000598	Abnormality of the ear	10518	CIB2	ORPHA:231169
HP:0000598	Abnormality of the ear	92935	MARS2	OMIM:616430
HP:0000598	Abnormality of the ear	5604	MAP2K1	OMIM:163950
HP:0000598	Abnormality of the ear	2582	GALE	OMIM:230350
HP:0000598	Abnormality of the ear	4512	MT-CO1	OMIM:540000
HP:0000598	Abnormality of the ear	4513	MT-CO2	OMIM:540000
HP:0000598	Abnormality of the ear	4514	MT-CO3	OMIM:540000
HP:0000598	Abnormality of the ear	4519	MT-CYB	OMIM:540000
HP:0000598	Abnormality of the ear	4511	MT-TC	OMIM:540000
HP:0000598	Abnormality of the ear	4574	MT-TS1	OMIM:540000
HP:0000598	Abnormality of the ear	4575	MT-TS2	OMIM:540000
HP:0000598	Abnormality of the ear	4558	MT-TF	OMIM:540000
HP:0000598	Abnormality of the ear	4541	MT-ND6	OMIM:540000
HP:0000598	Abnormality of the ear	4567	MT-TL1	OMIM:540000
HP:0000598	Abnormality of the ear	4540	MT-ND5	OMIM:540000
HP:0000598	Abnormality of the ear	4566	MT-TK	OMIM:540000
HP:0000598	Abnormality of the ear	4535	MT-ND1	OMIM:540000
HP:0000598	Abnormality of the ear	4572	MT-TQ	OMIM:540000
HP:0000598	Abnormality of the ear	4577	MT-TV	OMIM:540000
HP:0000598	Abnormality of the ear	4578	MT-TW	OMIM:540000
HP:0000598	Abnormality of the ear	114548	NLRP3	ORPHA:575
HP:0000598	Abnormality of the ear	114548	NLRP3	OMIM:191900
HP:0000598	Abnormality of the ear	114548	NLRP3	OMIM:607115
HP:0000598	Abnormality of the ear	7840	ALMS1	ORPHA:64
HP:0000598	Abnormality of the ear	7840	ALMS1	OMIM:203800
HP:0000598	Abnormality of the ear	4694	NDUFA1	OMIM:301020
HP:0000598	Abnormality of the ear	79784	MYH14	OMIM:600652
HP:0000598	Abnormality of the ear	1687	GSDME	OMIM:600994
HP:0000598	Abnormality of the ear	10205	MPZL2	OMIM:618145
HP:0000598	Abnormality of the ear	407053	MIR96	OMIM:613074
HP:0000598	Abnormality of the ear	71	ACTG1	OMIM:604717
HP:0000598	Abnormality of the ear	10463	SLC30A9	OMIM:617595
HP:0000598	Abnormality of the ear	22901	ARSG	OMIM:618144
HP:0000598	Abnormality of the ear	2625	GATA3	ORPHA:2237
HP:0000598	Abnormality of the ear	4171	MCM2	OMIM:616968
HP:0000598	Abnormality of the ear	55699	IARS2	ORPHA:436174
HP:0000598	Abnormality of the ear	2248	FGF3	ORPHA:2791
HP:0000598	Abnormality of the ear	53904	MYO3A	OMIM:607101
HP:0000598	Abnormality of the ear	2671	GFER	ORPHA:330054
HP:0000598	Abnormality of the ear	8085	KMT2D	OMIM:620186
HP:0000598	Abnormality of the ear	5456	POU3F4	OMIM:304400
HP:0000598	Abnormality of the ear	10804	GJB6	OMIM:304400
HP:0000598	Abnormality of the ear	2706	GJB2	OMIM:304400
HP:0000598	Abnormality of the ear	4359	MPZ	OMIM:607736
HP:0000598	Abnormality of the ear	1678	TIMM8A	OMIM:304700
HP:0000598	Abnormality of the ear	79966	SCD5	OMIM:619086
HP:0000598	Abnormality of the ear	4646	MYO6	OMIM:606346
HP:0000598	Abnormality of the ear	478	ATP1A3	OMIM:601338
HP:0000598	Abnormality of the ear	7466	WFS1	OMIM:600965
HP:0000598	Abnormality of the ear	163183	SYNE4	OMIM:615540
HP:0000598	Abnormality of the ear	389207	GRXCR1	OMIM:613285
HP:0000598	Abnormality of the ear	23395	LARS2	OMIM:615300
HP:0000598	Abnormality of the ear	286262	TPRN	OMIM:613307
HP:0000598	Abnormality of the ear	4976	OPA1	OMIM:125250
HP:0000598	Abnormality of the ear	22953	P2RX2	OMIM:608224
HP:0000598	Abnormality of the ear	10755	GIPC1	ORPHA:98897
HP:0000598	Abnormality of the ear	100996717	NOTCH2NLC	ORPHA:98897
HP:0000598	Abnormality of the ear	166929	SGMS2	OMIM:126550
HP:0000598	Abnormality of the ear	55294	FBXW7	OMIM:620012
HP:0000598	Abnormality of the ear	9820	CUL7	ORPHA:2616
HP:0000598	Abnormality of the ear	23363	OBSL1	ORPHA:2616
HP:0000598	Abnormality of the ear	23363	OBSL1	OMIM:612921
HP:0000598	Abnormality of the ear	83987	CCDC8	ORPHA:2616
HP:0000598	Abnormality of the ear	83987	CCDC8	OMIM:614205
HP:0000598	Abnormality of the ear	283120	H19	ORPHA:231140
HP:0000598	Abnormality of the ear	3340	NDST1	OMIM:616116
HP:0000598	Abnormality of the ear	55621	TRMT1	OMIM:618302
HP:0000598	Abnormality of the ear	163175	LGI4	OMIM:617468
HP:0000598	Abnormality of the ear	200424	TET3	OMIM:618798
HP:0000598	Abnormality of the ear	274	BIN1	ORPHA:169186
HP:0000598	Abnormality of the ear	10290	SPEG	ORPHA:169186
HP:0000598	Abnormality of the ear	1291	COL6A1	OMIM:254090
HP:0000598	Abnormality of the ear	1292	COL6A2	OMIM:254090
HP:0000598	Abnormality of the ear	1293	COL6A3	OMIM:254090
HP:0000598	Abnormality of the ear	79576	NKAP	OMIM:301039
HP:0000598	Abnormality of the ear	51305	KCNK9	ORPHA:166108
HP:0000598	Abnormality of the ear	5293	PIK3CD	ORPHA:221139
HP:0000598	Abnormality of the ear	90417	KNSTRN	ORPHA:221139
HP:0000598	Abnormality of the ear	90416	CCDC32	OMIM:619123
HP:0000598	Abnormality of the ear	3832	KIF11	ORPHA:2526
HP:0000598	Abnormality of the ear	3832	KIF11	OMIM:152950
HP:0000598	Abnormality of the ear	23529	CLCF1	OMIM:610313
HP:0000598	Abnormality of the ear	1804	DPP6	ORPHA:2514
HP:0000598	Abnormality of the ear	85378	TUBGCP6	ORPHA:2518
HP:0000598	Abnormality of the ear	27229	TUBGCP4	ORPHA:2518
HP:0000598	Abnormality of the ear	57647	DHX37	OMIM:618731
HP:0000598	Abnormality of the ear	57728	WDR19	OMIM:614378
HP:0000598	Abnormality of the ear	10844	TUBGCP2	OMIM:618737
HP:0000598	Abnormality of the ear	64127	NOD2	OMIM:186580
HP:0000598	Abnormality of the ear	9993	DGCR2	OMIM:192430
HP:0000598	Abnormality of the ear	8220	ESS2	OMIM:192430
HP:0000598	Abnormality of the ear	8214	DGCR6	OMIM:192430
HP:0000598	Abnormality of the ear	54487	DGCR8	OMIM:192430
HP:0000598	Abnormality of the ear	84265	POLR3GL	OMIM:619234
HP:0000598	Abnormality of the ear	5269	SERPINB6	OMIM:613453
HP:0000598	Abnormality of the ear	9570	GOSR2	OMIM:620166
HP:0000598	Abnormality of the ear	121340	SP7	OMIM:613849
HP:0000598	Abnormality of the ear	4287	ATXN3	ORPHA:276244
HP:0000598	Abnormality of the ear	4287	ATXN3	ORPHA:276241
HP:0000598	Abnormality of the ear	4287	ATXN3	ORPHA:276238
HP:0000598	Abnormality of the ear	11190	CEP250	OMIM:618358
HP:0000598	Abnormality of the ear	79188	TMEM43	OMIM:619832
HP:0000598	Abnormality of the ear	11133	KPTN	ORPHA:397612
HP:0000598	Abnormality of the ear	81624	DIAPH3	OMIM:609129
HP:0000598	Abnormality of the ear	9131	AIFM1	OMIM:300614
HP:0000598	Abnormality of the ear	79796	ALG9	ORPHA:79328
HP:0000598	Abnormality of the ear	79796	ALG9	OMIM:263210
HP:0000598	Abnormality of the ear	79718	TBL1XR1	OMIM:602342
HP:0000598	Abnormality of the ear	23556	PIGN	OMIM:614080
HP:0000598	Abnormality of the ear	23556	PIGN	ORPHA:280633
HP:0000598	Abnormality of the ear	4677	NARS1	OMIM:619092
HP:0000598	Abnormality of the ear	30000	TNPO2	OMIM:619556
HP:0000598	Abnormality of the ear	83696	TRAPPC9	ORPHA:352530
HP:0000598	Abnormality of the ear	202018	TAPT1	OMIM:616897
HP:0000598	Abnormality of the ear	10584	COLEC10	ORPHA:293843
HP:0000598	Abnormality of the ear	5648	MASP1	ORPHA:293843
HP:0000598	Abnormality of the ear	78989	COLEC11	ORPHA:293843
HP:0000598	Abnormality of the ear	526	ATP6V1B2	ORPHA:3473
HP:0000598	Abnormality of the ear	3756	KCNH1	ORPHA:3473
HP:0000598	Abnormality of the ear	3782	KCNN3	ORPHA:3473
HP:0000598	Abnormality of the ear	2639	GCDH	ORPHA:25
HP:0000598	Abnormality of the ear	4352	MPL	ORPHA:71493
HP:0000598	Abnormality of the ear	4352	MPL	ORPHA:729
HP:0000598	Abnormality of the ear	7066	THPO	ORPHA:71493
HP:0000598	Abnormality of the ear	3717	JAK2	ORPHA:71493
HP:0000598	Abnormality of the ear	3717	JAK2	ORPHA:729
HP:0000598	Abnormality of the ear	3717	JAK2	OMIM:133100
HP:0000598	Abnormality of the ear	773	CACNA1A	OMIM:183086
HP:0000598	Abnormality of the ear	773	CACNA1A	OMIM:108500
HP:0000598	Abnormality of the ear	773	CACNA1A	ORPHA:569
HP:0000598	Abnormality of the ear	773	CACNA1A	ORPHA:97
HP:0000598	Abnormality of the ear	773	CACNA1A	ORPHA:71518
HP:0000598	Abnormality of the ear	3736	KCNA1	OMIM:160120
HP:0000598	Abnormality of the ear	3736	KCNA1	ORPHA:37612
HP:0000598	Abnormality of the ear	4598	MVK	OMIM:260920
HP:0000598	Abnormality of the ear	2057	EPOR	ORPHA:90042
HP:0000598	Abnormality of the ear	2057	EPOR	OMIM:133100
HP:0000598	Abnormality of the ear	6261	RYR1	ORPHA:466650
HP:0000598	Abnormality of the ear	6507	SLC1A3	ORPHA:209967
HP:0000598	Abnormality of the ear	6507	SLC1A3	OMIM:612656
HP:0000598	Abnormality of the ear	3728	JUP	ORPHA:34217
HP:0000598	Abnormality of the ear	4221	MEN1	ORPHA:2965
HP:0000598	Abnormality of the ear	7132	TNFRSF1A	ORPHA:32960
HP:0000598	Abnormality of the ear	4633	MYL2	OMIM:608758
HP:0000598	Abnormality of the ear	2642	GCGR	OMIM:619290
HP:0000598	Abnormality of the ear	4878	NPPA	ORPHA:1344
HP:0000598	Abnormality of the ear	54790	TET2	ORPHA:729
HP:0000598	Abnormality of the ear	112476	PRRT2	ORPHA:569
HP:0000598	Abnormality of the ear	6323	SCN1A	ORPHA:569
HP:0000598	Abnormality of the ear	477	ATP1A2	ORPHA:569
HP:0000598	Abnormality of the ear	477	ATP1A2	OMIM:602481
HP:0000598	Abnormality of the ear	2992	GYG1	ORPHA:263297
HP:0000598	Abnormality of the ear	54805	CNNM2	OMIM:613882
HP:0000598	Abnormality of the ear	27010	TPK1	OMIM:614458
HP:0000598	Abnormality of the ear	10528	NOP56	ORPHA:276198
HP:0000598	Abnormality of the ear	2313	FLI1	ORPHA:370348
HP:0000598	Abnormality of the ear	1499	CTNNB1	ORPHA:54595
HP:0000598	Abnormality of the ear	2259	FGF14	OMIM:620174
HP:0000598	Abnormality of the ear	54795	TRPM4	ORPHA:871
HP:0000598	Abnormality of the ear	1482	NKX2-5	ORPHA:871
HP:0000598	Abnormality of the ear	6324	SCN1B	ORPHA:871
HP:0000598	Abnormality of the ear	10019	SH2B3	OMIM:133100
HP:0000598	Abnormality of the ear	1621	DBH	ORPHA:230
HP:0000598	Abnormality of the ear	30813	VSX1	OMIM:614195
HP:0000598	Abnormality of the ear	801	CALM1	OMIM:614916
HP:0000598	Abnormality of the ear	801	CALM1	ORPHA:3286
HP:0000598	Abnormality of the ear	8913	CACNA1G	ORPHA:458803
HP:0000598	Abnormality of the ear	22943	DKK1	ORPHA:268882
HP:0000598	Abnormality of the ear	805	CALM2	ORPHA:3286
HP:0000598	Abnormality of the ear	253017	TECRL	ORPHA:3286
HP:0000598	Abnormality of the ear	10345	TRDN	ORPHA:3286
HP:0000598	Abnormality of the ear	808	CALM3	ORPHA:3286
HP:0000598	Abnormality of the ear	845	CASQ2	ORPHA:3286
HP:0000598	Abnormality of the ear	6262	RYR2	ORPHA:3286
HP:0000598	Abnormality of the ear	6774	STAT3	ORPHA:520
HP:0000598	Abnormality of the ear	5371	PML	ORPHA:520
HP:0000598	Abnormality of the ear	5914	RARA	ORPHA:520
HP:0000598	Abnormality of the ear	359948	IRF2BP2	ORPHA:520
HP:0000598	Abnormality of the ear	81608	FIP1L1	ORPHA:520
HP:0000598	Abnormality of the ear	4869	NPM1	ORPHA:520
HP:0000598	Abnormality of the ear	5573	PRKAR1A	ORPHA:520
HP:0000598	Abnormality of the ear	64859	NABP1	ORPHA:520
HP:0000598	Abnormality of the ear	6777	STAT5B	ORPHA:520
HP:0000598	Abnormality of the ear	4926	NUMA1	ORPHA:520
HP:0000598	Abnormality of the ear	7704	ZBTB16	ORPHA:520
HP:0000598	Abnormality of the ear	4615	MYD88	ORPHA:33226
HP:0000598	Abnormality of the ear	6559	SLC12A3	OMIM:263800
HP:0000598	Abnormality of the ear	6559	SLC12A3	ORPHA:358
HP:0000598	Abnormality of the ear	149233	IL23R	ORPHA:117
HP:0000598	Abnormality of the ear	6775	STAT4	ORPHA:117
HP:0000598	Abnormality of the ear	3586	IL10	ORPHA:117
HP:0000598	Abnormality of the ear	4210	MEFV	ORPHA:117
HP:0000598	Abnormality of the ear	1230	CCR1	ORPHA:117
HP:0000598	Abnormality of the ear	3592	IL12A	ORPHA:117
HP:0000598	Abnormality of the ear	101928376	IL12A-AS1	ORPHA:117
HP:0000598	Abnormality of the ear	7099	TLR4	ORPHA:117
HP:0000598	Abnormality of the ear	3459	IFNGR1	ORPHA:117
HP:0000598	Abnormality of the ear	720	C4A	ORPHA:117
HP:0000598	Abnormality of the ear	337867	UBAC2	ORPHA:117
HP:0000598	Abnormality of the ear	51752	ERAP1	ORPHA:117
HP:0000598	Abnormality of the ear	8302	KLRC4	ORPHA:117
HP:0000598	Abnormality of the ear	4854	NOTCH3	OMIM:130720
HP:0000598	Abnormality of the ear	4854	NOTCH3	ORPHA:2789
HP:0000598	Abnormality of the ear	2138	EYA1	ORPHA:107
HP:0000598	Abnormality of the ear	147912	SIX5	ORPHA:107
HP:0000598	Abnormality of the ear	6495	SIX1	ORPHA:107
HP:0000598	Abnormality of the ear	6299	SALL1	OMIM:107480
HP:0000598	Abnormality of the ear	2263	FGFR2	ORPHA:313855
HP:0000598	Abnormality of the ear	29998	BICRA	OMIM:619325
HP:0000598	Abnormality of the ear	4009	LMX1A	OMIM:601412
HP:0000598	Abnormality of the ear	5442	POLRMT	OMIM:619743
HP:0000598	Abnormality of the ear	1028	CDKN1C	OMIM:130650
HP:0000598	Abnormality of the ear	10984	KCNQ1OT1	OMIM:130650
HP:0000598	Abnormality of the ear	3481	IGF2	OMIM:130650
HP:0000598	Abnormality of the ear	26012	NSMF	ORPHA:432
HP:0000598	Abnormality of the ear	2796	GNRH1	ORPHA:432
HP:0000598	Abnormality of the ear	2798	GNRHR	ORPHA:432
HP:0000598	Abnormality of the ear	84634	KISS1R	ORPHA:432
HP:0000598	Abnormality of the ear	6866	TAC3	ORPHA:432
HP:0000598	Abnormality of the ear	3814	KISS1	ORPHA:432
HP:0000598	Abnormality of the ear	51241	COX16	OMIM:619355
HP:0000598	Abnormality of the ear	51081	MRPS7	OMIM:617872
HP:0000598	Abnormality of the ear	220074	LRTOMT	OMIM:611451
HP:0000598	Abnormality of the ear	4919	ROR1	OMIM:617654
HP:0000598	Abnormality of the ear	5959	RDH5	ORPHA:52427
HP:0000598	Abnormality of the ear	8942	KYNU	ORPHA:79155
HP:0000598	Abnormality of the ear	1371	CPOX	ORPHA:79273
HP:0000598	Abnormality of the ear	9526	MPDU1	ORPHA:79323
HP:0000598	Abnormality of the ear	23394	ADNP	ORPHA:404448
HP:0000598	Abnormality of the ear	5339	PLEC	ORPHA:158684
HP:0000598	Abnormality of the ear	5339	PLEC	OMIM:612138
HP:0000598	Abnormality of the ear	3691	ITGB4	ORPHA:158684
HP:0000598	Abnormality of the ear	51506	UFC1	OMIM:618076
HP:0000598	Abnormality of the ear	55788	LMBRD1	OMIM:277380
HP:0000598	Abnormality of the ear	57589	RIC1	OMIM:618761
HP:0000598	Abnormality of the ear	9739	SETD1A	OMIM:619056
HP:0000598	Abnormality of the ear	80204	FBXO11	OMIM:618089
HP:0000598	Abnormality of the ear	815	CAMK2A	OMIM:617798
HP:0000598	Abnormality of the ear	54872	PIGG	ORPHA:280
HP:0000598	Abnormality of the ear	7469	NELFA	ORPHA:280
HP:0000598	Abnormality of the ear	4174	MCM5	OMIM:617564
HP:0000598	Abnormality of the ear	51199	NIN	OMIM:614851
HP:0000598	Abnormality of the ear	51199	NIN	ORPHA:319675
HP:0000598	Abnormality of the ear	175	AGA	ORPHA:93
HP:0000598	Abnormality of the ear	26038	CHD5	OMIM:619873
HP:0000598	Abnormality of the ear	55719	SLF2	OMIM:620184
HP:0000598	Abnormality of the ear	4089	SMAD4	OMIM:139210
HP:0000598	Abnormality of the ear	81887	LAS1L	ORPHA:3459
HP:0000598	Abnormality of the ear	5422	POLA1	ORPHA:163976
HP:0000598	Abnormality of the ear	5422	POLA1	OMIM:301030
HP:0000598	Abnormality of the ear	4123	MAN2C1	OMIM:619775
HP:0000598	Abnormality of the ear	9652	SKIC3	OMIM:222470
HP:0000598	Abnormality of the ear	729920	CRPPA	OMIM:614643
HP:0000598	Abnormality of the ear	4488	MSX2	OMIM:168550
HP:0000598	Abnormality of the ear	6138	RPL15	ORPHA:124
HP:0000598	Abnormality of the ear	6229	RPS24	ORPHA:124
HP:0000598	Abnormality of the ear	6125	RPL5	ORPHA:124
HP:0000598	Abnormality of the ear	6204	RPS10	ORPHA:124
HP:0000598	Abnormality of the ear	6224	RPS20	ORPHA:124
HP:0000598	Abnormality of the ear	6165	RPL35A	ORPHA:124
HP:0000598	Abnormality of the ear	6223	RPS19	ORPHA:124
HP:0000598	Abnormality of the ear	6232	RPS27	ORPHA:124
HP:0000598	Abnormality of the ear	11224	RPL35	ORPHA:124
HP:0000598	Abnormality of the ear	6160	RPL31	ORPHA:124
HP:0000598	Abnormality of the ear	6218	RPS17	ORPHA:124
HP:0000598	Abnormality of the ear	6201	RPS7	ORPHA:124
HP:0000598	Abnormality of the ear	6155	RPL27	ORPHA:124
HP:0000598	Abnormality of the ear	6210	RPS15A	ORPHA:124
HP:0000598	Abnormality of the ear	6141	RPL18	ORPHA:124
HP:0000598	Abnormality of the ear	6235	RPS29	ORPHA:124
HP:0000598	Abnormality of the ear	54101	RIPK4	OMIM:263650
HP:0000598	Abnormality of the ear	51025	PAM16	OMIM:613320
HP:0000598	Abnormality of the ear	27152	INTU	OMIM:617925
HP:0000598	Abnormality of the ear	5426	POLE	OMIM:618336
HP:0000598	Abnormality of the ear	6477	SIAH1	OMIM:619314
HP:0000598	Abnormality of the ear	89970	RSPRY1	OMIM:616723
HP:0000598	Abnormality of the ear	7473	WNT3	ORPHA:3301
HP:0000598	Abnormality of the ear	340419	RSPO2	ORPHA:3301
HP:0000598	Abnormality of the ear	3313	HSPA9	OMIM:616854
HP:0000598	Abnormality of the ear	3097	HIVEP2	OMIM:616977
HP:0000598	Abnormality of the ear	29954	POMT2	OMIM:236670
HP:0000598	Abnormality of the ear	9215	LARGE1	OMIM:236670
HP:0000598	Abnormality of the ear	79147	FKRP	OMIM:236670
HP:0000598	Abnormality of the ear	10585	POMT1	OMIM:236670
HP:0000598	Abnormality of the ear	4131	MAP1B	OMIM:618918
HP:0000598	Abnormality of the ear	90161	HS6ST2	OMIM:301025
HP:0000598	Abnormality of the ear	55777	MBD5	OMIM:156200
HP:0000598	Abnormality of the ear	3209	HOXA13	ORPHA:2438
HP:0000598	Abnormality of the ear	8405	SPOP	OMIM:618829
HP:0000598	Abnormality of the ear	5058	PAK1	OMIM:618158
HP:0000598	Abnormality of the ear	3655	ITGA6	OMIM:619817
HP:0000598	Abnormality of the ear	5557	PRIM1	OMIM:620005
HP:0000598	Abnormality of the ear	7388	UQCRH	OMIM:620137
HP:0000598	Abnormality of the ear	25886	POC1A	OMIM:614813
HP:0000598	Abnormality of the ear	54845	ESRP1	OMIM:618013
HP:0000598	Abnormality of the ear	1491	CTH	ORPHA:212
HP:0000598	Abnormality of the ear	286	ANK1	ORPHA:251066
HP:0000598	Abnormality of the ear	672	BRCA1	ORPHA:84
HP:0000598	Abnormality of the ear	10459	MAD2L2	ORPHA:84
HP:0000598	Abnormality of the ear	7516	XRCC2	ORPHA:84
HP:0000598	Abnormality of the ear	29089	UBE2T	ORPHA:84
HP:0000598	Abnormality of the ear	675	BRCA2	ORPHA:84
HP:0000598	Abnormality of the ear	55120	FANCL	ORPHA:84
HP:0000598	Abnormality of the ear	2177	FANCD2	ORPHA:84
HP:0000598	Abnormality of the ear	2175	FANCA	ORPHA:84
HP:0000598	Abnormality of the ear	2187	FANCB	ORPHA:84
HP:0000598	Abnormality of the ear	2176	FANCC	ORPHA:84
HP:0000598	Abnormality of the ear	2178	FANCE	ORPHA:84
HP:0000598	Abnormality of the ear	2189	FANCG	ORPHA:84
HP:0000598	Abnormality of the ear	5888	RAD51	ORPHA:84
HP:0000598	Abnormality of the ear	5889	RAD51C	ORPHA:84
HP:0000598	Abnormality of the ear	55159	RFWD3	ORPHA:84
HP:0000598	Abnormality of the ear	83990	BRIP1	ORPHA:84
HP:0000598	Abnormality of the ear	57697	FANCM	ORPHA:84
HP:0000598	Abnormality of the ear	79728	PALB2	ORPHA:84
HP:0000598	Abnormality of the ear	84464	SLX4	ORPHA:84
HP:0000598	Abnormality of the ear	157570	ESCO2	ORPHA:3103
HP:0000598	Abnormality of the ear	2626	GATA4	ORPHA:251071
HP:0000598	Abnormality of the ear	5813	PURA	ORPHA:438216
HP:0000598	Abnormality of the ear	6905	TBCE	ORPHA:2323
HP:0000598	Abnormality of the ear	203068	TUBB	ORPHA:2505
HP:0000598	Abnormality of the ear	10982	MAPRE2	ORPHA:2505
HP:0000598	Abnormality of the ear	2245	FGD1	ORPHA:915
HP:0000598	Abnormality of the ear	51339	DACT1	ORPHA:857
HP:0000598	Abnormality of the ear	9723	SEMA3E	ORPHA:138
HP:0000598	Abnormality of the ear	56262	LRRC8A	ORPHA:33110
HP:0000598	Abnormality of the ear	2335	FN1	ORPHA:93315
HP:0000598	Abnormality of the ear	79005	SCNM1	OMIM:620107
HP:0000598	Abnormality of the ear	9772	TMEM94	OMIM:618316
HP:0000598	Abnormality of the ear	6535	SLC6A8	OMIM:300352
HP:0000598	Abnormality of the ear	1663	DDX11	OMIM:613398
HP:0000598	Abnormality of the ear	10157	AASS	ORPHA:2203
HP:0000598	Abnormality of the ear	27161	AGO2	OMIM:619149
HP:0000598	Abnormality of the ear	5053	PAH	ORPHA:2209
HP:0000598	Abnormality of the ear	5087	PBX1	OMIM:617641
HP:0000598	Abnormality of the ear	10026	PIGK	OMIM:618879
HP:0000598	Abnormality of the ear	283209	PGM2L1	OMIM:620191
HP:0000598	Abnormality of the ear	9469	CHST3	OMIM:245600
HP:0000598	Abnormality of the ear	26229	B3GAT3	OMIM:245600
HP:0000598	Abnormality of the ear	1513	CTSK	ORPHA:763
HP:0000598	Abnormality of the ear	1757	SARDH	ORPHA:3129
HP:0000598	Abnormality of the ear	10216	PRG4	ORPHA:2848
HP:0000598	Abnormality of the ear	410	ARSA	ORPHA:309256
HP:0000598	Abnormality of the ear	410	ARSA	ORPHA:309271
HP:0000598	Abnormality of the ear	410	ARSA	ORPHA:309263
HP:0000598	Abnormality of the ear	84334	COA8	ORPHA:436271
HP:0000598	Abnormality of the ear	2521	FUS	ORPHA:275872
HP:0000598	Abnormality of the ear	7415	VCP	ORPHA:275872
HP:0000598	Abnormality of the ear	23435	TARDBP	ORPHA:275872
HP:0000598	Abnormality of the ear	29110	TBK1	ORPHA:275872
HP:0000598	Abnormality of the ear	643226	GRXCR2	OMIM:615837
HP:0000598	Abnormality of the ear	2811	GP1BA	ORPHA:853
HP:0000598	Abnormality of the ear	3674	ITGA2B	ORPHA:853
HP:0000598	Abnormality of the ear	3673	ITGA2	ORPHA:853
HP:0000598	Abnormality of the ear	135228	CD109	ORPHA:853
HP:0000598	Abnormality of the ear	3690	ITGB3	ORPHA:853
HP:0000598	Abnormality of the ear	55739	NAXD	OMIM:618321
HP:0000598	Abnormality of the ear	131118	DNAJC19	ORPHA:66634
HP:0000598	Abnormality of the ear	2961	GTF2E2	OMIM:616943
HP:0000598	Abnormality of the ear	2961	GTF2E2	ORPHA:33364
HP:0000598	Abnormality of the ear	833	CARS1	ORPHA:33364
HP:0000598	Abnormality of the ear	7737	RNF113A	ORPHA:33364
HP:0000598	Abnormality of the ear	6897	TARS1	ORPHA:33364
HP:0000598	Abnormality of the ear	50617	ATP6V0A4	OMIM:602722
HP:0000598	Abnormality of the ear	219972	MPEG1	OMIM:619223
HP:0000598	Abnormality of the ear	10533	ATG7	OMIM:619422
HP:0000598	Abnormality of the ear	29899	GPSM2	OMIM:604213
HP:0000598	Abnormality of the ear	11078	TRIOBP	OMIM:609823
HP:0000598	Abnormality of the ear	3735	KARS1	OMIM:613641
HP:0000598	Abnormality of the ear	161742	SPRED1	ORPHA:137605
HP:0000598	Abnormality of the ear	3265	HRAS	OMIM:218040
HP:0000598	Abnormality of the ear	4771	NF2	OMIM:162091
HP:0000598	Abnormality of the ear	6598	SMARCB1	OMIM:162091
HP:0000598	Abnormality of the ear	3981	LIG4	ORPHA:235
HP:0000598	Abnormality of the ear	54888	NSUN2	ORPHA:235
HP:0000598	Abnormality of the ear	2290	FOXG1	ORPHA:261144
HP:0000598	Abnormality of the ear	23522	KAT6B	ORPHA:3047
HP:0000598	Abnormality of the ear	9320	TRIP12	OMIM:617752
HP:0000598	Abnormality of the ear	55275	VPS53	OMIM:615851
HP:0000598	Abnormality of the ear	7358	UGDH	OMIM:618792
HP:0000598	Abnormality of the ear	1806	DPYD	ORPHA:1675
HP:0000598	Abnormality of the ear	81620	CDT1	ORPHA:2554
HP:0000598	Abnormality of the ear	5000	ORC4	ORPHA:2554
HP:0000598	Abnormality of the ear	23594	ORC6	ORPHA:2554
HP:0000598	Abnormality of the ear	990	CDC6	ORPHA:2554
HP:0000598	Abnormality of the ear	4998	ORC1	ORPHA:2554
HP:0000598	Abnormality of the ear	3767	KCNJ11	ORPHA:79134
HP:0000598	Abnormality of the ear	79731	NARS2	ORPHA:79134
HP:0000598	Abnormality of the ear	6833	ABCC8	ORPHA:79134
HP:0000598	Abnormality of the ear	84992	PIGY	OMIM:616809
HP:0000598	Abnormality of the ear	58499	ZNF462	OMIM:618619
HP:0000598	Abnormality of the ear	57479	PRR12	OMIM:619539
HP:0000598	Abnormality of the ear	2697	GJA1	ORPHA:1010
HP:0000598	Abnormality of the ear	55901	THSD1	OMIM:620244
HP:0000598	Abnormality of the ear	9361	LONP1	OMIM:600373
HP:0000598	Abnormality of the ear	9361	LONP1	ORPHA:1458
HP:0000598	Abnormality of the ear	2201	FBN2	OMIM:121050
HP:0000598	Abnormality of the ear	2201	FBN2	ORPHA:115
HP:0000598	Abnormality of the ear	23184	MESD	OMIM:618644
HP:0000598	Abnormality of the ear	7291	TWIST1	OMIM:617746
HP:0000598	Abnormality of the ear	2200	FBN1	ORPHA:284979
HP:0000598	Abnormality of the ear	1906	EDN1	ORPHA:137888
HP:0000598	Abnormality of the ear	5332	PLCB4	ORPHA:137888
HP:0000598	Abnormality of the ear	2773	GNAI3	ORPHA:137888
HP:0000598	Abnormality of the ear	2334	AFF2	ORPHA:100973
HP:0000598	Abnormality of the ear	91452	ACBD5	OMIM:618863
HP:0000598	Abnormality of the ear	11141	IL1RAPL1	OMIM:300143
HP:0000598	Abnormality of the ear	9091	PIGQ	OMIM:618548
HP:0000598	Abnormality of the ear	6326	SCN2A	OMIM:618924
HP:0000598	Abnormality of the ear	785	CACNB4	OMIM:607682
HP:0000598	Abnormality of the ear	2571	GAD1	OMIM:619124
HP:0000598	Abnormality of the ear	7025	NR2F1	ORPHA:401777
HP:0000598	Abnormality of the ear	2719	GPC3	ORPHA:373
HP:0000598	Abnormality of the ear	6925	TCF4	ORPHA:2896
HP:0000598	Abnormality of the ear	23384	SPECC1L	ORPHA:1519
HP:0000598	Abnormality of the ear	26040	SETBP1	ORPHA:798
HP:0000598	Abnormality of the ear	151516	ASPRV1	ORPHA:313
HP:0000598	Abnormality of the ear	242	ALOX12B	ORPHA:313
HP:0000598	Abnormality of the ear	126410	CYP4F22	ORPHA:313
HP:0000598	Abnormality of the ear	6820	SULT2B1	ORPHA:313
HP:0000598	Abnormality of the ear	26154	ABCA12	ORPHA:313
HP:0000598	Abnormality of the ear	643418	LIPN	ORPHA:313
HP:0000598	Abnormality of the ear	59344	ALOXE3	ORPHA:313
HP:0000598	Abnormality of the ear	348938	NIPAL4	ORPHA:313
HP:0000598	Abnormality of the ear	121214	SDR9C7	ORPHA:313
HP:0000598	Abnormality of the ear	7051	TGM1	ORPHA:313
HP:0000598	Abnormality of the ear	23511	NUP188	OMIM:618804
HP:0000598	Abnormality of the ear	80000	GREB1L	OMIM:619274
HP:0000598	Abnormality of the ear	259236	TMIE	OMIM:600971
HP:0000598	Abnormality of the ear	5962	RDX	OMIM:611022
HP:0000598	Abnormality of the ear	51168	MYO15A	OMIM:600316
HP:0000598	Abnormality of the ear	55687	TRMU	OMIM:580000
HP:0000598	Abnormality of the ear	1801	DPH1	ORPHA:459061
HP:0000598	Abnormality of the ear	8565	YARS1	OMIM:619418
HP:0000598	Abnormality of the ear	2059	EPS8	OMIM:615974
HP:0000598	Abnormality of the ear	1278	COL1A2	ORPHA:230851
HP:0000598	Abnormality of the ear	326	AIRE	OMIM:240300
HP:0000598	Abnormality of the ear	285590	SH3PXD2B	OMIM:249420
HP:0000598	Abnormality of the ear	7528	YY1	OMIM:617557
HP:0000598	Abnormality of the ear	54187	NANS	OMIM:610442
HP:0000598	Abnormality of the ear	57539	WDR35	OMIM:613610
HP:0000598	Abnormality of the ear	55770	EXOC2	OMIM:619306
HP:0000598	Abnormality of the ear	6650	CAPN15	OMIM:619318
HP:0000598	Abnormality of the ear	84081	NSRP1	OMIM:620001
HP:0000598	Abnormality of the ear	2395	FXN	ORPHA:95
HP:0000598	Abnormality of the ear	5155	PDGFB	ORPHA:2495
HP:0000598	Abnormality of the ear	84231	TRAF7	ORPHA:2495
HP:0000598	Abnormality of the ear	5290	PIK3CA	ORPHA:2495
HP:0000598	Abnormality of the ear	7015	TERT	ORPHA:2495
HP:0000598	Abnormality of the ear	51684	SUFU	ORPHA:2495
HP:0000598	Abnormality of the ear	6605	SMARCE1	ORPHA:2495
HP:0000598	Abnormality of the ear	3868	KRT16	ORPHA:2309
HP:0000598	Abnormality of the ear	3872	KRT17	ORPHA:2309
HP:0000598	Abnormality of the ear	3853	KRT6A	ORPHA:2309
HP:0000598	Abnormality of the ear	3854	KRT6B	ORPHA:2309
HP:0000598	Abnormality of the ear	6492	SIM1	ORPHA:171829
HP:0000598	Abnormality of the ear	2103	ESRRB	OMIM:608565
HP:0000598	Abnormality of the ear	5283	PIGH	OMIM:618010
HP:0000598	Abnormality of the ear	3149	HMGB3	OMIM:300915
HP:0000598	Abnormality of the ear	847	CAT	ORPHA:926
HP:0000598	Abnormality of the ear	6567	SLC16A2	OMIM:300523
HP:0000598	Abnormality of the ear	9702	CEP57	OMIM:614114
HP:0000598	Abnormality of the ear	7140	TNNT3	ORPHA:1147
HP:0000598	Abnormality of the ear	7136	TNNI2	ORPHA:1147
HP:0000598	Abnormality of the ear	5702	PSMC3	OMIM:619354
HP:0000598	Abnormality of the ear	3703	STT3A	OMIM:619714
HP:0000598	Abnormality of the ear	5457	POU4F1	ORPHA:314647
HP:0000598	Abnormality of the ear	57591	MRTFA	OMIM:618847
HP:0000598	Abnormality of the ear	6868	ADAM17	OMIM:614328
HP:0000598	Abnormality of the ear	6868	ADAM17	ORPHA:294023
HP:0000598	Abnormality of the ear	1956	EGFR	ORPHA:294023
HP:0000599	Abnormality of the frontal hairline	7291	TWIST1	ORPHA:794
HP:0000599	Abnormality of the frontal hairline	7291	TWIST1	OMIM:101400
HP:0000599	Abnormality of the frontal hairline	7291	TWIST1	OMIM:617746
HP:0000599	Abnormality of the frontal hairline	2263	FGFR2	ORPHA:794
HP:0000599	Abnormality of the frontal hairline	2263	FGFR2	OMIM:101400
HP:0000599	Abnormality of the frontal hairline	2261	FGFR3	ORPHA:794
HP:0000599	Abnormality of the frontal hairline	2261	FGFR3	OMIM:602849
HP:0000599	Abnormality of the frontal hairline	3479	IGF1	ORPHA:73272
HP:0000599	Abnormality of the frontal hairline	11113	CIT	OMIM:617090
HP:0000599	Abnormality of the frontal hairline	8243	SMC1A	OMIM:300590
HP:0000599	Abnormality of the frontal hairline	8243	SMC1A	OMIM:301044
HP:0000599	Abnormality of the frontal hairline	8243	SMC1A	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	10128	LRPPRC	OMIM:220111
HP:0000599	Abnormality of the frontal hairline	91949	COG7	OMIM:608779
HP:0000599	Abnormality of the frontal hairline	25970	SH2B1	ORPHA:261222
HP:0000599	Abnormality of the frontal hairline	9131	AIFM1	OMIM:300232
HP:0000599	Abnormality of the frontal hairline	6909	TBX2	OMIM:618223
HP:0000599	Abnormality of the frontal hairline	117581	TWIST2	OMIM:227260
HP:0000599	Abnormality of the frontal hairline	117581	TWIST2	OMIM:209885
HP:0000599	Abnormality of the frontal hairline	6885	MAP3K7	OMIM:617137
HP:0000599	Abnormality of the frontal hairline	55627	SMPD4	OMIM:618622
HP:0000599	Abnormality of the frontal hairline	8818	DPM2	ORPHA:329178
HP:0000599	Abnormality of the frontal hairline	7545	ZIC1	OMIM:616602
HP:0000599	Abnormality of the frontal hairline	7545	ZIC1	OMIM:618736
HP:0000599	Abnormality of the frontal hairline	7518	XRCC4	ORPHA:99812
HP:0000599	Abnormality of the frontal hairline	3981	LIG4	ORPHA:99812
HP:0000599	Abnormality of the frontal hairline	3981	LIG4	OMIM:606593
HP:0000599	Abnormality of the frontal hairline	3981	LIG4	ORPHA:235
HP:0000599	Abnormality of the frontal hairline	55209	SETD5	ORPHA:404440
HP:0000599	Abnormality of the frontal hairline	55209	SETD5	OMIM:615761
HP:0000599	Abnormality of the frontal hairline	55869	HDAC8	OMIM:300882
HP:0000599	Abnormality of the frontal hairline	55869	HDAC8	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	57465	TBC1D24	OMIM:220500
HP:0000599	Abnormality of the frontal hairline	57465	TBC1D24	ORPHA:79500
HP:0000599	Abnormality of the frontal hairline	9578	CDC42BPB	OMIM:619841
HP:0000599	Abnormality of the frontal hairline	3020	H3-3A	OMIM:619720
HP:0000599	Abnormality of the frontal hairline	170302	ARX	OMIM:300004
HP:0000599	Abnormality of the frontal hairline	341640	FREM2	OMIM:617666
HP:0000599	Abnormality of the frontal hairline	65082	VPS33A	OMIM:617303
HP:0000599	Abnormality of the frontal hairline	55690	PACS1	OMIM:615009
HP:0000599	Abnormality of the frontal hairline	55690	PACS1	ORPHA:329224
HP:0000599	Abnormality of the frontal hairline	4081	MAB21L1	OMIM:618479
HP:0000599	Abnormality of the frontal hairline	80055	PGAP1	OMIM:615802
HP:0000599	Abnormality of the frontal hairline	318	NUDT2	OMIM:619844
HP:0000599	Abnormality of the frontal hairline	10982	MAPRE2	OMIM:616734
HP:0000599	Abnormality of the frontal hairline	25782	RAB3GAP2	OMIM:212720
HP:0000599	Abnormality of the frontal hairline	25782	RAB3GAP2	OMIM:614225
HP:0000599	Abnormality of the frontal hairline	55780	ERMARD	ORPHA:75857
HP:0000599	Abnormality of the frontal hairline	3764	KCNJ8	ORPHA:1517
HP:0000599	Abnormality of the frontal hairline	10060	ABCC9	ORPHA:1517
HP:0000599	Abnormality of the frontal hairline	9126	SMC3	OMIM:610759
HP:0000599	Abnormality of the frontal hairline	9126	SMC3	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	6595	SMARCA2	OMIM:619293
HP:0000599	Abnormality of the frontal hairline	6595	SMARCA2	OMIM:601358
HP:0000599	Abnormality of the frontal hairline	5934	RBL2	OMIM:619690
HP:0000599	Abnormality of the frontal hairline	83999	KREMEN1	OMIM:617392
HP:0000599	Abnormality of the frontal hairline	23221	RHOBTB2	OMIM:618004
HP:0000599	Abnormality of the frontal hairline	55870	ASH1L	OMIM:617796
HP:0000599	Abnormality of the frontal hairline	4125	MAN2B1	OMIM:248500
HP:0000599	Abnormality of the frontal hairline	1020	CDK5	OMIM:616342
HP:0000599	Abnormality of the frontal hairline	79029	AFG2B	OMIM:619616
HP:0000599	Abnormality of the frontal hairline	6597	SMARCA4	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6598	SMARCB1	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6659	SOX4	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	8289	ARID1A	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	8289	ARID1A	OMIM:614607
HP:0000599	Abnormality of the frontal hairline	5977	DPF2	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6601	SMARCC2	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6602	SMARCD1	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	57492	ARID1B	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	196528	ARID2	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6605	SMARCE1	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	6605	SMARCE1	OMIM:616938
HP:0000599	Abnormality of the frontal hairline	6664	SOX11	ORPHA:1465
HP:0000599	Abnormality of the frontal hairline	23389	MED13L	ORPHA:369891
HP:0000599	Abnormality of the frontal hairline	23065	EMC1	OMIM:616875
HP:0000599	Abnormality of the frontal hairline	23065	EMC1	ORPHA:480898
HP:0000599	Abnormality of the frontal hairline	128637	TBC1D20	OMIM:615663
HP:0000599	Abnormality of the frontal hairline	1954	MEGF8	OMIM:614976
HP:0000599	Abnormality of the frontal hairline	3782	KCNN3	OMIM:618658
HP:0000599	Abnormality of the frontal hairline	4853	NOTCH2	ORPHA:955
HP:0000599	Abnormality of the frontal hairline	57572	DOCK6	OMIM:614219
HP:0000599	Abnormality of the frontal hairline	59336	PRDM13	OMIM:619909
HP:0000599	Abnormality of the frontal hairline	23476	BRD4	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	25836	NIPBL	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	5885	RAD21	ORPHA:199
HP:0000599	Abnormality of the frontal hairline	54888	NSUN2	ORPHA:235
HP:0000599	Abnormality of the frontal hairline	9895	TECPR2	OMIM:615031
HP:0000599	Abnormality of the frontal hairline	9895	TECPR2	ORPHA:320385
HP:0000599	Abnormality of the frontal hairline	29957	SLC25A24	ORPHA:2095
HP:0000599	Abnormality of the frontal hairline	29957	SLC25A24	OMIM:612289
HP:0000599	Abnormality of the frontal hairline	157680	VPS13B	ORPHA:193
HP:0000599	Abnormality of the frontal hairline	1387	CREBBP	OMIM:180849
HP:0000599	Abnormality of the frontal hairline	2033	EP300	OMIM:180849
HP:0000599	Abnormality of the frontal hairline	6938	TCF12	OMIM:615314
HP:0000599	Abnormality of the frontal hairline	22931	RAB18	OMIM:614222
HP:0000599	Abnormality of the frontal hairline	85440	DOCK7	ORPHA:411986
HP:0000599	Abnormality of the frontal hairline	85440	DOCK7	OMIM:615859
HP:0000599	Abnormality of the frontal hairline	80036	TRPM3	OMIM:620224
HP:0000599	Abnormality of the frontal hairline	54499	TMCO1	OMIM:213980
HP:0000599	Abnormality of the frontal hairline	8405	SPOP	OMIM:618828
HP:0000599	Abnormality of the frontal hairline	5184	PEPD	ORPHA:742
HP:0000599	Abnormality of the frontal hairline	526	ATP6V1B2	ORPHA:79500
HP:0000599	Abnormality of the frontal hairline	84172	POLR1B	ORPHA:861
HP:0000599	Abnormality of the frontal hairline	9533	POLR1C	ORPHA:861
HP:0000599	Abnormality of the frontal hairline	51082	POLR1D	ORPHA:861
HP:0000599	Abnormality of the frontal hairline	6949	TCOF1	ORPHA:861
HP:0000599	Abnormality of the frontal hairline	7204	TRIO	OMIM:617061
HP:0000599	Abnormality of the frontal hairline	374879	ZNF699	OMIM:619488
HP:0000599	Abnormality of the frontal hairline	91875	TTC5	OMIM:619244
HP:0000599	Abnormality of the frontal hairline	440138	ALG11	OMIM:613661
HP:0000599	Abnormality of the frontal hairline	93587	TRMT10A	ORPHA:391408
HP:0000599	Abnormality of the frontal hairline	93587	TRMT10A	OMIM:616033
HP:0000599	Abnormality of the frontal hairline	84919	PPP1R15B	ORPHA:391408
HP:0000599	Abnormality of the frontal hairline	55343	SLC35C1	ORPHA:99843
HP:0000599	Abnormality of the frontal hairline	55691	FRMD4A	OMIM:616819
HP:0000599	Abnormality of the frontal hairline	55691	FRMD4A	ORPHA:466688
HP:0000599	Abnormality of the frontal hairline	5286	PIK3C2A	OMIM:618440
HP:0000599	Abnormality of the frontal hairline	79147	FKRP	OMIM:613153
HP:0000599	Abnormality of the frontal hairline	54187	NANS	OMIM:610442
HP:0000599	Abnormality of the frontal hairline	374969	SVBP	OMIM:618569
HP:0000599	Abnormality of the frontal hairline	3643	INSR	ORPHA:769
HP:0000599	Abnormality of the frontal hairline	4683	NBN	ORPHA:647
HP:0000599	Abnormality of the frontal hairline	5468	PPARG	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	10555	AGPAT2	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	284119	CAVIN1	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	26580	BSCL2	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	2353	FOS	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	857	CAV1	ORPHA:528
HP:0000599	Abnormality of the frontal hairline	3339	HSPG2	ORPHA:800
HP:0000599	Abnormality of the frontal hairline	6135	RPL11	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6138	RPL15	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6229	RPS24	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6125	RPL5	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6204	RPS10	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6224	RPS20	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6165	RPL35A	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	2623	GATA1	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6223	RPS19	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6232	RPS27	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6231	RPS26	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	11224	RPL35	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6160	RPL31	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6218	RPS17	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6201	RPS7	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6155	RPL27	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6154	RPL26	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6210	RPS15A	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	90121	TSR2	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6141	RPL18	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6235	RPS29	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	6234	RPS28	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	51816	ADA2	ORPHA:124
HP:0000599	Abnormality of the frontal hairline	171023	ASXL1	OMIM:605039
HP:0000599	Abnormality of the frontal hairline	6913	TBX15	OMIM:260660
HP:0000599	Abnormality of the frontal hairline	29123	ANKRD11	OMIM:148050
HP:0000599	Abnormality of the frontal hairline	672	BRCA1	OMIM:617883
HP:0000599	Abnormality of the frontal hairline	6878	TAF6	OMIM:617126
HP:0000599	Abnormality of the frontal hairline	9990	SLC12A6	OMIM:218000
HP:0000599	Abnormality of the frontal hairline	1947	EFNB1	OMIM:304110
HP:0000599	Abnormality of the frontal hairline	1947	EFNB1	ORPHA:1520
HP:0000599	Abnormality of the frontal hairline	8092	ALX1	ORPHA:306542
HP:0000599	Abnormality of the frontal hairline	55027	HEATR3	OMIM:620072
HP:0000599	Abnormality of the frontal hairline	257	ALX3	OMIM:136760
HP:0000599	Abnormality of the frontal hairline	257	ALX3	ORPHA:391474
HP:0000599	Abnormality of the frontal hairline	4281	MID1	OMIM:300000
HP:0000599	Abnormality of the frontal hairline	4281	MID1	ORPHA:2745
HP:0000599	Abnormality of the frontal hairline	6857	SYT1	ORPHA:522077
HP:0000599	Abnormality of the frontal hairline	10220	GDF11	OMIM:619122
HP:0000599	Abnormality of the frontal hairline	473	RERE	OMIM:616975
HP:0000599	Abnormality of the frontal hairline	23384	SPECC1L	OMIM:145420
HP:0000599	Abnormality of the frontal hairline	23384	SPECC1L	ORPHA:1519
HP:0000599	Abnormality of the frontal hairline	22907	DHX30	OMIM:617804
HP:0000599	Abnormality of the frontal hairline	6304	SATB1	OMIM:619229
HP:0000599	Abnormality of the frontal hairline	4036	LRP2	ORPHA:2143
HP:0000599	Abnormality of the frontal hairline	10522	DEAF1	OMIM:615828
HP:0000599	Abnormality of the frontal hairline	2316	FLNA	OMIM:304120
HP:0000599	Abnormality of the frontal hairline	10466	COG5	ORPHA:263487
HP:0000599	Abnormality of the frontal hairline	10297	APC2	ORPHA:821
HP:0000599	Abnormality of the frontal hairline	1371	CPOX	ORPHA:79273
HP:0000599	Abnormality of the frontal hairline	80144	FRAS1	OMIM:219000
HP:0000599	Abnormality of the frontal hairline	9653	HS2ST1	OMIM:619194
HP:0000599	Abnormality of the frontal hairline	1802	DPH2	OMIM:620062
HP:0000599	Abnormality of the frontal hairline	23394	ADNP	ORPHA:404448
HP:0000599	Abnormality of the frontal hairline	23394	ADNP	OMIM:615873
HP:0000599	Abnormality of the frontal hairline	23013	SPEN	OMIM:619312
HP:0000599	Abnormality of the frontal hairline	8367	H4C5	OMIM:619950
HP:0000599	Abnormality of the frontal hairline	104	ADARB1	OMIM:618862
HP:0000599	Abnormality of the frontal hairline	8812	CCNK	OMIM:618147
HP:0000599	Abnormality of the frontal hairline	1182	CLCN3	OMIM:619512
HP:0000599	Abnormality of the frontal hairline	6608	SMO	OMIM:601707
HP:0000599	Abnormality of the frontal hairline	4010	LMX1B	ORPHA:2614
HP:0000599	Abnormality of the frontal hairline	29926	GMPPA	OMIM:615510
HP:0000599	Abnormality of the frontal hairline	54361	WNT4	ORPHA:247768
HP:0000599	Abnormality of the frontal hairline	7360	UGP2	OMIM:618744
HP:0000599	Abnormality of the frontal hairline	3008	H1-4	OMIM:617537
HP:0000599	Abnormality of the frontal hairline	3703	STT3A	OMIM:619714
HP:0000599	Abnormality of the frontal hairline	5189	PEX1	ORPHA:3220
HP:0000599	Abnormality of the frontal hairline	5190	PEX6	ORPHA:3220
HP:0000599	Abnormality of the frontal hairline	10283	CWC27	OMIM:250410
HP:0000599	Abnormality of the frontal hairline	79718	TBL1XR1	OMIM:602342
HP:0000599	Abnormality of the frontal hairline	79718	TBL1XR1	ORPHA:487825
HP:0000599	Abnormality of the frontal hairline	79228	THOC6	ORPHA:363444
HP:0000599	Abnormality of the frontal hairline	79228	THOC6	OMIM:613680
HP:0000599	Abnormality of the frontal hairline	29998	BICRA	OMIM:619325
HP:0000599	Abnormality of the frontal hairline	253959	RALGAPA1	OMIM:618797
HP:0000599	Abnormality of the frontal hairline	10026	PIGK	OMIM:618879
HP:0000599	Abnormality of the frontal hairline	10525	HYOU1	OMIM:233600
HP:0000599	Abnormality of the frontal hairline	5500	PPP1CB	OMIM:617506
HP:0000599	Abnormality of the frontal hairline	999	CDH1	OMIM:119580
HP:0000599	Abnormality of the frontal hairline	3756	KCNH1	ORPHA:420561
HP:0000599	Abnormality of the frontal hairline	84679	SLC9A7	OMIM:301024
HP:0000599	Abnormality of the frontal hairline	64135	IFIH1	OMIM:182250
HP:0000599	Abnormality of the frontal hairline	10735	STAG2	OMIM:301022
HP:0000599	Abnormality of the frontal hairline	9968	MED12	OMIM:300895
HP:0000599	Abnormality of the frontal hairline	64324	NSD1	OMIM:117550
HP:0000599	Abnormality of the frontal hairline	55906	ZC4H2	OMIM:314580
HP:0000599	Abnormality of the frontal hairline	1748	DLX4	OMIM:616788
HP:0000599	Abnormality of the frontal hairline	25942	SIN3A	ORPHA:94065
HP:0000599	Abnormality of the frontal hairline	25942	SIN3A	OMIM:613406
HP:0000599	Abnormality of the frontal hairline	10815	CPLX1	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	54872	PIGG	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	7469	NELFA	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	1487	CTBP1	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	3954	LETM1	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	7468	NSD2	ORPHA:280
HP:0000599	Abnormality of the frontal hairline	23028	KDM1A	ORPHA:477993
HP:0000599	Abnormality of the frontal hairline	4212	MEIS2	OMIM:600987
HP:0000599	Abnormality of the frontal hairline	5587	PRKD1	OMIM:617364
HP:0000599	Abnormality of the frontal hairline	29072	SETD2	OMIM:616831
HP:0000599	Abnormality of the frontal hairline	4858	NOVA2	OMIM:618859
HP:0000599	Abnormality of the frontal hairline	25871	NEPRO	OMIM:618853
HP:0000599	Abnormality of the frontal hairline	2245	FGD1	ORPHA:915
HP:0000599	Abnormality of the frontal hairline	2783	GNB2	OMIM:619503
HP:0000599	Abnormality of the frontal hairline	79633	FAT4	OMIM:615546
HP:0000599	Abnormality of the frontal hairline	26057	ANKRD17	OMIM:619504
HP:0000599	Abnormality of the frontal hairline	6654	SOS1	OMIM:610733
HP:0000599	Abnormality of the frontal hairline	3720	JARID2	OMIM:620098
HP:0033606	Bone marrow maturation arrest	2316	FLNA	OMIM:300049
HP:0033606	Bone marrow maturation arrest	81570	CLPB	OMIM:616271
HP:0033606	Bone marrow maturation arrest	1441	CSF3R	OMIM:617014
HP:0033606	Bone marrow maturation arrest	6603	SMARCD2	OMIM:617475
HP:0033606	Bone marrow maturation arrest	84522	JAGN1	OMIM:616022
HP:0033606	Bone marrow maturation arrest	7454	WAS	OMIM:300299
HP:0033608	Pulmonary nodule	6772	STAT1	OMIM:614162
HP:0033607	Bone marrow arrest at the promyelocytic stage	7454	WAS	OMIM:300299
HP:0007750	Hypoplasia of the fovea	63915	BLOC1S5	OMIM:619172
HP:0007750	Hypoplasia of the fovea	22926	ATF6	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	22926	ATF6	OMIM:616517
HP:0007750	Hypoplasia of the fovea	5146	PDE6C	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	6103	RPGR	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	5149	PDE6H	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	2780	GNAT2	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	1261	CNGA3	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	1261	CNGA3	OMIM:216900
HP:0007750	Hypoplasia of the fovea	54714	CNGB3	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	778	CACNA1F	ORPHA:178333
HP:0007750	Hypoplasia of the fovea	778	CACNA1F	OMIM:300600
HP:0007750	Hypoplasia of the fovea	283652	SLC24A5	OMIM:113750
HP:0007750	Hypoplasia of the fovea	57479	PRR12	OMIM:619539
HP:0007750	Hypoplasia of the fovea	5080	PAX6	ORPHA:2334
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:136520
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:604229
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:106210
HP:0007750	Hypoplasia of the fovea	7299	TYR	OMIM:203100
HP:0007750	Hypoplasia of the fovea	7299	TYR	ORPHA:79431
HP:0007750	Hypoplasia of the fovea	7299	TYR	ORPHA:79434
HP:0007750	Hypoplasia of the fovea	4948	OCA2	OMIM:203200
HP:0007750	Hypoplasia of the fovea	4948	OCA2	ORPHA:79432
HP:0007750	Hypoplasia of the fovea	4157	MC1R	OMIM:203200
HP:0007750	Hypoplasia of the fovea	4157	MC1R	ORPHA:79432
HP:0007750	Hypoplasia of the fovea	7360	UGP2	OMIM:618744
HP:0007750	Hypoplasia of the fovea	92154	MTSS2	OMIM:620086
HP:0007750	Hypoplasia of the fovea	8943	AP3D1	ORPHA:54
HP:0007750	Hypoplasia of the fovea	4935	GPR143	ORPHA:54
HP:0007750	Hypoplasia of the fovea	4935	GPR143	OMIM:300500
HP:0007750	Hypoplasia of the fovea	146167	SLC38A8	OMIM:609218
HP:0007750	Hypoplasia of the fovea	89781	HPS4	OMIM:614073
HP:0007750	Hypoplasia of the fovea	11234	HPS5	OMIM:614074
HP:0007750	Hypoplasia of the fovea	388552	BLOC1S3	OMIM:614077
HP:0007750	Hypoplasia of the fovea	1638	DCT	OMIM:619165
HP:0007750	Hypoplasia of the fovea	157657	CFAP418	OMIM:617406
HP:0007750	Hypoplasia of the fovea	9573	GDF3	OMIM:613703
HP:0007750	Hypoplasia of the fovea	392255	GDF6	OMIM:613703
HP:0007750	Hypoplasia of the fovea	8517	IKBKG	OMIM:308300
HP:0007750	Hypoplasia of the fovea	7490	WT1	OMIM:106210
HP:0007750	Hypoplasia of the fovea	60386	SLC25A19	OMIM:607196
HP:0007750	Hypoplasia of the fovea	51151	SLC45A2	ORPHA:79435
HP:0007750	Hypoplasia of the fovea	4758	NEU1	ORPHA:93400
HP:0000648	Optic atrophy	26191	PTPN22	ORPHA:397
HP:0000648	Optic atrophy	3106	HLA-B	ORPHA:397
HP:0000648	Optic atrophy	3123	HLA-DRB1	ORPHA:397
HP:0000648	Optic atrophy	8974	P4HA2	ORPHA:397
HP:0000648	Optic atrophy	875	CBS	ORPHA:394
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:272
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:588
HP:0000648	Optic atrophy	2218	FKTN	OMIM:236670
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:899
HP:0000648	Optic atrophy	2218	FKTN	OMIM:253800
HP:0000648	Optic atrophy	4524	MTHFR	ORPHA:395
HP:0000648	Optic atrophy	55703	POLR3B	OMIM:614381
HP:0000648	Optic atrophy	55703	POLR3B	OMIM:607694
HP:0000648	Optic atrophy	10617	STAMBP	OMIM:614261
HP:0000648	Optic atrophy	4099	MAG	OMIM:616680
HP:0000648	Optic atrophy	51256	TBC1D7	OMIM:248000
HP:0000648	Optic atrophy	55823	VPS11	OMIM:616683
HP:0000648	Optic atrophy	55823	VPS11	ORPHA:466934
HP:0000648	Optic atrophy	23446	SLC44A1	OMIM:618868
HP:0000648	Optic atrophy	8518	ELP1	ORPHA:1764
HP:0000648	Optic atrophy	201595	STT3B	OMIM:615597
HP:0000648	Optic atrophy	201595	STT3B	ORPHA:370924
HP:0000648	Optic atrophy	10059	DNM1L	OMIM:614388
HP:0000648	Optic atrophy	10059	DNM1L	OMIM:610708
HP:0000648	Optic atrophy	10059	DNM1L	ORPHA:330050
HP:0000648	Optic atrophy	10059	DNM1L	ORPHA:98673
HP:0000648	Optic atrophy	4897	NRCAM	OMIM:619833
HP:0000648	Optic atrophy	2720	GLB1	OMIM:230600
HP:0000648	Optic atrophy	84334	COA8	ORPHA:436271
HP:0000648	Optic atrophy	1786	DNMT1	ORPHA:314404
HP:0000648	Optic atrophy	1786	DNMT1	OMIM:604121
HP:0000648	Optic atrophy	755	CFAP410	OMIM:602271
HP:0000648	Optic atrophy	84942	WDR73	OMIM:251300
HP:0000648	Optic atrophy	84942	WDR73	ORPHA:83472
HP:0000648	Optic atrophy	4693	NDP	OMIM:310600
HP:0000648	Optic atrophy	4693	NDP	ORPHA:649
HP:0000648	Optic atrophy	1736	DKC1	OMIM:305000
HP:0000648	Optic atrophy	51	ACOX1	ORPHA:2971
HP:0000648	Optic atrophy	51	ACOX1	OMIM:264470
HP:0000648	Optic atrophy	1161	ERCC8	ORPHA:90321
HP:0000648	Optic atrophy	1161	ERCC8	OMIM:216400
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:90321
HP:0000648	Optic atrophy	2072	ERCC4	OMIM:610965
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:910
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:220295
HP:0000648	Optic atrophy	2074	ERCC6	ORPHA:90321
HP:0000648	Optic atrophy	2074	ERCC6	OMIM:278800
HP:0000648	Optic atrophy	2074	ERCC6	OMIM:133540
HP:0000648	Optic atrophy	2074	ERCC6	ORPHA:1466
HP:0000648	Optic atrophy	6687	SPG7	ORPHA:99013
HP:0000648	Optic atrophy	6687	SPG7	OMIM:607259
HP:0000648	Optic atrophy	5631	PRPS1	ORPHA:99014
HP:0000648	Optic atrophy	5631	PRPS1	OMIM:301835
HP:0000648	Optic atrophy	5631	PRPS1	ORPHA:1187
HP:0000648	Optic atrophy	5631	PRPS1	OMIM:311070
HP:0000648	Optic atrophy	5354	PLP1	ORPHA:99015
HP:0000648	Optic atrophy	5354	PLP1	ORPHA:280234
HP:0000648	Optic atrophy	5354	PLP1	OMIM:312080
HP:0000648	Optic atrophy	5354	PLP1	OMIM:312920
HP:0000648	Optic atrophy	57165	GJC2	OMIM:608804
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:255210
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:104
HP:0000648	Optic atrophy	4535	MT-ND1	OMIM:535000
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:550
HP:0000648	Optic atrophy	4536	MT-ND2	ORPHA:255210
HP:0000648	Optic atrophy	4536	MT-ND2	ORPHA:104
HP:0000648	Optic atrophy	4536	MT-ND2	OMIM:535000
HP:0000648	Optic atrophy	4537	MT-ND3	ORPHA:255210
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:255210
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:104
HP:0000648	Optic atrophy	4538	MT-ND4	OMIM:535000
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:550
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:255210
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:551
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:550
HP:0000648	Optic atrophy	4578	MT-TW	ORPHA:255210
HP:0000648	Optic atrophy	4578	MT-TW	ORPHA:550
HP:0000648	Optic atrophy	4577	MT-TV	ORPHA:255210
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:255210
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:104
HP:0000648	Optic atrophy	4508	MT-ATP6	OMIM:535000
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:320360
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:225154
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:255210
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:104
HP:0000648	Optic atrophy	4540	MT-ND5	OMIM:535000
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:551
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:550
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:255210
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:104
HP:0000648	Optic atrophy	4541	MT-ND6	OMIM:535000
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:550
HP:0000648	Optic atrophy	4566	MT-TK	ORPHA:255210
HP:0000648	Optic atrophy	4566	MT-TK	ORPHA:551
HP:0000648	Optic atrophy	8566	PDXK	OMIM:618511
HP:0000648	Optic atrophy	65993	MRPS34	OMIM:617664
HP:0000648	Optic atrophy	6536	SLC6A9	OMIM:617301
HP:0000648	Optic atrophy	51741	WWOX	OMIM:616211
HP:0000648	Optic atrophy	51741	WWOX	ORPHA:442835
HP:0000648	Optic atrophy	51741	WWOX	OMIM:614322
HP:0000648	Optic atrophy	200205	IBA57	OMIM:616451
HP:0000648	Optic atrophy	200205	IBA57	ORPHA:468661
HP:0000648	Optic atrophy	200205	IBA57	OMIM:615330
HP:0000648	Optic atrophy	26504	CNNM4	ORPHA:1873
HP:0000648	Optic atrophy	79639	TMEM53	OMIM:619727
HP:0000648	Optic atrophy	65082	VPS33A	OMIM:617303
HP:0000648	Optic atrophy	65082	VPS33A	ORPHA:505248
HP:0000648	Optic atrophy	10730	YME1L1	OMIM:617302
HP:0000648	Optic atrophy	51112	TRAPPC12	OMIM:617669
HP:0000648	Optic atrophy	51112	TRAPPC12	ORPHA:500144
HP:0000648	Optic atrophy	55768	NGLY1	ORPHA:404454
HP:0000648	Optic atrophy	55636	CHD7	ORPHA:138
HP:0000648	Optic atrophy	9723	SEMA3E	ORPHA:138
HP:0000648	Optic atrophy	50964	SOST	ORPHA:1513
HP:0000648	Optic atrophy	50964	SOST	OMIM:122860
HP:0000648	Optic atrophy	50964	SOST	ORPHA:3152
HP:0000648	Optic atrophy	50964	SOST	OMIM:269500
HP:0000648	Optic atrophy	6660	SOX5	ORPHA:313892
HP:0000648	Optic atrophy	6660	SOX5	OMIM:616803
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309271
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309263
HP:0000648	Optic atrophy	410	ARSA	OMIM:250100
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309256
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309271
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309263
HP:0000648	Optic atrophy	5660	PSAP	OMIM:611721
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309256
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:206436
HP:0000648	Optic atrophy	7345	UCHL1	OMIM:615491
HP:0000648	Optic atrophy	7345	UCHL1	OMIM:620221
HP:0000648	Optic atrophy	284058	KANSL1	ORPHA:363958
HP:0000648	Optic atrophy	284058	KANSL1	ORPHA:363965
HP:0000648	Optic atrophy	5105	PCK1	OMIM:261680
HP:0000648	Optic atrophy	3423	IDS	ORPHA:217085
HP:0000648	Optic atrophy	3423	IDS	ORPHA:217093
HP:0000648	Optic atrophy	7994	KAT6A	ORPHA:457193
HP:0000648	Optic atrophy	7994	KAT6A	OMIM:616268
HP:0000648	Optic atrophy	9326	ZNHIT3	ORPHA:2836
HP:0000648	Optic atrophy	9326	ZNHIT3	OMIM:260565
HP:0000648	Optic atrophy	547	KIF1A	ORPHA:2836
HP:0000648	Optic atrophy	547	KIF1A	OMIM:614255
HP:0000648	Optic atrophy	55681	SCYL2	OMIM:618766
HP:0000648	Optic atrophy	85465	SELENOI	OMIM:618768
HP:0000648	Optic atrophy	2697	GJA1	ORPHA:2710
HP:0000648	Optic atrophy	2697	GJA1	OMIM:218400
HP:0000648	Optic atrophy	157680	VPS13B	OMIM:216550
HP:0000648	Optic atrophy	157680	VPS13B	ORPHA:193
HP:0000648	Optic atrophy	9401	RECQL4	OMIM:218600
HP:0000648	Optic atrophy	55149	MTPAP	ORPHA:254343
HP:0000648	Optic atrophy	55149	MTPAP	OMIM:613672
HP:0000648	Optic atrophy	171023	ASXL1	ORPHA:97297
HP:0000648	Optic atrophy	10484	SEC23A	OMIM:607812
HP:0000648	Optic atrophy	10815	CPLX1	ORPHA:280
HP:0000648	Optic atrophy	54872	PIGG	ORPHA:280
HP:0000648	Optic atrophy	7469	NELFA	ORPHA:280
HP:0000648	Optic atrophy	1487	CTBP1	ORPHA:280
HP:0000648	Optic atrophy	3954	LETM1	ORPHA:280
HP:0000648	Optic atrophy	3954	LETM1	OMIM:620089
HP:0000648	Optic atrophy	7468	NSD2	ORPHA:280
HP:0000648	Optic atrophy	22872	SEC31A	OMIM:618651
HP:0000648	Optic atrophy	83636	C19orf12	OMIM:614298
HP:0000648	Optic atrophy	83636	C19orf12	OMIM:615043
HP:0000648	Optic atrophy	5833	PCYT2	OMIM:618770
HP:0000648	Optic atrophy	7466	WFS1	OMIM:614296
HP:0000648	Optic atrophy	7466	WFS1	OMIM:222300
HP:0000648	Optic atrophy	7466	WFS1	ORPHA:3463
HP:0000648	Optic atrophy	7466	WFS1	ORPHA:411590
HP:0000648	Optic atrophy	388962	BOLA3	OMIM:614299
HP:0000648	Optic atrophy	1201	CLN3	OMIM:204200
HP:0000648	Optic atrophy	1201	CLN3	ORPHA:228346
HP:0000648	Optic atrophy	284184	NDUFAF8	OMIM:618776
HP:0000648	Optic atrophy	79731	NARS2	OMIM:616239
HP:0000648	Optic atrophy	89910	UBE3B	ORPHA:2707
HP:0000648	Optic atrophy	3737	KCNA2	ORPHA:442835
HP:0000648	Optic atrophy	1759	DNM1	ORPHA:442835
HP:0000648	Optic atrophy	1759	DNM1	OMIM:620352
HP:0000648	Optic atrophy	8120	AP3B2	ORPHA:442835
HP:0000648	Optic atrophy	523	ATP6V1A	ORPHA:442835
HP:0000648	Optic atrophy	523	ATP6V1A	OMIM:618012
HP:0000648	Optic atrophy	10991	SLC38A3	ORPHA:442835
HP:0000648	Optic atrophy	51343	FZR1	ORPHA:442835
HP:0000648	Optic atrophy	22906	TRAK1	ORPHA:442835
HP:0000648	Optic atrophy	2566	GABRG2	ORPHA:442835
HP:0000648	Optic atrophy	1917	EEF1A2	ORPHA:442835
HP:0000648	Optic atrophy	2561	GABRB2	ORPHA:442835
HP:0000648	Optic atrophy	8831	SYNGAP1	ORPHA:442835
HP:0000648	Optic atrophy	7532	YWHAG	ORPHA:442835
HP:0000648	Optic atrophy	79876	UBA5	ORPHA:442835
HP:0000648	Optic atrophy	6328	SCN3A	ORPHA:442835
HP:0000648	Optic atrophy	2558	GABRA5	ORPHA:442835
HP:0000648	Optic atrophy	781	CACNA2D1	ORPHA:442835
HP:0000648	Optic atrophy	2906	GRIN2D	ORPHA:442835
HP:0000648	Optic atrophy	116150	NUS1	ORPHA:442835
HP:0000648	Optic atrophy	10659	CELF2	ORPHA:442835
HP:0000648	Optic atrophy	774	CACNA1B	ORPHA:442835
HP:0000648	Optic atrophy	1213	CLTC	ORPHA:442835
HP:0000648	Optic atrophy	23334	SZT2	ORPHA:442835
HP:0000648	Optic atrophy	51412	ACTL6B	ORPHA:442835
HP:0000648	Optic atrophy	348980	HCN1	ORPHA:442835
HP:0000648	Optic atrophy	6506	SLC1A2	ORPHA:442835
HP:0000648	Optic atrophy	8867	SYNJ1	ORPHA:442835
HP:0000648	Optic atrophy	2258	FGF13	ORPHA:442835
HP:0000648	Optic atrophy	477	ATP1A2	ORPHA:442835
HP:0000648	Optic atrophy	3745	KCNB1	ORPHA:442835
HP:0000648	Optic atrophy	284111	SLC13A5	ORPHA:442835
HP:0000648	Optic atrophy	25977	NECAP1	ORPHA:442835
HP:0000648	Optic atrophy	16	AARS1	ORPHA:442835
HP:0000648	Optic atrophy	6334	SCN8A	ORPHA:442835
HP:0000648	Optic atrophy	22866	CNKSR2	ORPHA:442835
HP:0000648	Optic atrophy	9568	GABBR2	ORPHA:442835
HP:0000648	Optic atrophy	2555	GABRA2	ORPHA:442835
HP:0000648	Optic atrophy	55152	DALRD3	ORPHA:442835
HP:0000648	Optic atrophy	773	CACNA1A	ORPHA:442835
HP:0000648	Optic atrophy	26999	CYFIP2	ORPHA:442835
HP:0000648	Optic atrophy	4915	NTRK2	ORPHA:442835
HP:0000648	Optic atrophy	4915	NTRK2	OMIM:617830
HP:0000648	Optic atrophy	25973	PARS2	ORPHA:442835
HP:0000648	Optic atrophy	25973	PARS2	OMIM:618437
HP:0000648	Optic atrophy	23097	CDK19	ORPHA:442835
HP:0000648	Optic atrophy	64801	ARV1	ORPHA:442835
HP:0000648	Optic atrophy	79947	DHDDS	ORPHA:442835
HP:0000648	Optic atrophy	79947	DHDDS	ORPHA:791
HP:0000648	Optic atrophy	2257	FGF12	ORPHA:442835
HP:0000648	Optic atrophy	5530	PPP3CA	ORPHA:442835
HP:0000648	Optic atrophy	478	ATP1A3	ORPHA:442835
HP:0000648	Optic atrophy	478	ATP1A3	OMIM:601338
HP:0000648	Optic atrophy	478	ATP1A3	ORPHA:1171
HP:0000648	Optic atrophy	6905	TBCE	OMIM:617207
HP:0000648	Optic atrophy	6905	TBCE	ORPHA:496756
HP:0000648	Optic atrophy	9927	MFN2	OMIM:601152
HP:0000648	Optic atrophy	9927	MFN2	OMIM:609260
HP:0000648	Optic atrophy	9927	MFN2	OMIM:617087
HP:0000648	Optic atrophy	9927	MFN2	ORPHA:99947
HP:0000648	Optic atrophy	1499	CTNNB1	ORPHA:54595
HP:0000648	Optic atrophy	1499	CTNNB1	OMIM:615075
HP:0000648	Optic atrophy	673	BRAF	ORPHA:54595
HP:0000648	Optic atrophy	673	BRAF	ORPHA:1340
HP:0000648	Optic atrophy	8241	RBM10	OMIM:311900
HP:0000648	Optic atrophy	8241	RBM10	ORPHA:2886
HP:0000648	Optic atrophy	25794	FSCN2	OMIM:607921
HP:0000648	Optic atrophy	25794	FSCN2	ORPHA:791
HP:0000648	Optic atrophy	1182	CLCN3	OMIM:619512
HP:0000648	Optic atrophy	91574	MTRFR	OMIM:615035
HP:0000648	Optic atrophy	91574	MTRFR	ORPHA:320375
HP:0000648	Optic atrophy	91574	MTRFR	ORPHA:254930
HP:0000648	Optic atrophy	91574	MTRFR	OMIM:613559
HP:0000648	Optic atrophy	27125	AFF4	OMIM:616368
HP:0000648	Optic atrophy	92609	TIMM50	OMIM:617698
HP:0000648	Optic atrophy	92609	TIMM50	ORPHA:505216
HP:0000648	Optic atrophy	51692	CPSF3	OMIM:619876
HP:0000648	Optic atrophy	3098	HK1	OMIM:618547
HP:0000648	Optic atrophy	150468	CKAP2L	OMIM:272440
HP:0000648	Optic atrophy	150468	CKAP2L	ORPHA:3255
HP:0000648	Optic atrophy	5590	PRKCZ	ORPHA:1606
HP:0000648	Optic atrophy	2563	GABRD	ORPHA:1606
HP:0000648	Optic atrophy	23013	SPEN	ORPHA:1606
HP:0000648	Optic atrophy	8510	MMP23B	ORPHA:1606
HP:0000648	Optic atrophy	7798	LUZP1	ORPHA:1606
HP:0000648	Optic atrophy	6497	SKI	ORPHA:1606
HP:0000648	Optic atrophy	10630	PDPN	ORPHA:1606
HP:0000648	Optic atrophy	3339	HSPG2	ORPHA:1606
HP:0000648	Optic atrophy	10277	UBE4B	ORPHA:1606
HP:0000648	Optic atrophy	8514	KCNAB2	ORPHA:1606
HP:0000648	Optic atrophy	473	RERE	ORPHA:1606
HP:0000648	Optic atrophy	473	RERE	ORPHA:494344
HP:0000648	Optic atrophy	473	RERE	OMIM:616975
HP:0000648	Optic atrophy	63976	PRDM16	ORPHA:1606
HP:0000648	Optic atrophy	54897	CASZ1	ORPHA:1606
HP:0000648	Optic atrophy	84277	DNAJC30	ORPHA:104
HP:0000648	Optic atrophy	4720	NDUFS2	ORPHA:104
HP:0000648	Optic atrophy	4720	NDUFS2	OMIM:618228
HP:0000648	Optic atrophy	4720	NDUFS2	ORPHA:70474
HP:0000648	Optic atrophy	4720	NDUFS2	ORPHA:255241
HP:0000648	Optic atrophy	4512	MT-CO1	ORPHA:104
HP:0000648	Optic atrophy	4512	MT-CO1	ORPHA:550
HP:0000648	Optic atrophy	4514	MT-CO3	ORPHA:104
HP:0000648	Optic atrophy	4514	MT-CO3	OMIM:535000
HP:0000648	Optic atrophy	4514	MT-CO3	ORPHA:550
HP:0000648	Optic atrophy	4519	MT-CYB	ORPHA:104
HP:0000648	Optic atrophy	4519	MT-CYB	OMIM:535000
HP:0000648	Optic atrophy	4519	MT-CYB	ORPHA:137675
HP:0000648	Optic atrophy	4539	MT-ND4L	ORPHA:104
HP:0000648	Optic atrophy	4539	MT-ND4L	OMIM:535000
HP:0000648	Optic atrophy	148789	B3GALNT2	ORPHA:588
HP:0000648	Optic atrophy	148789	B3GALNT2	ORPHA:899
HP:0000648	Optic atrophy	29925	GMPPB	ORPHA:588
HP:0000648	Optic atrophy	29925	GMPPB	ORPHA:370959
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:588
HP:0000648	Optic atrophy	79147	FKRP	OMIM:236670
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:899
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:370959
HP:0000648	Optic atrophy	9215	LARGE1	ORPHA:588
HP:0000648	Optic atrophy	9215	LARGE1	OMIM:236670
HP:0000648	Optic atrophy	9215	LARGE1	ORPHA:899
HP:0000648	Optic atrophy	9215	LARGE1	OMIM:613154
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:588
HP:0000648	Optic atrophy	29954	POMT2	OMIM:236670
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:899
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:370959
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:588
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:791
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:899
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:370959
HP:0000648	Optic atrophy	55624	POMGNT1	OMIM:253280
HP:0000648	Optic atrophy	55624	POMGNT1	OMIM:613151
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:588
HP:0000648	Optic atrophy	10585	POMT1	OMIM:236670
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:899
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:370959
HP:0000648	Optic atrophy	285362	SUMF1	ORPHA:585
HP:0000648	Optic atrophy	55210	ATAD3A	ORPHA:496790
HP:0000648	Optic atrophy	55210	ATAD3A	OMIM:617183
HP:0000648	Optic atrophy	4644	MYO5A	ORPHA:33445
HP:0000648	Optic atrophy	8818	DPM2	OMIM:615042
HP:0000648	Optic atrophy	8818	DPM2	ORPHA:329178
HP:0000648	Optic atrophy	122961	ISCA2	OMIM:616370
HP:0000648	Optic atrophy	8733	GPAA1	ORPHA:529665
HP:0000648	Optic atrophy	8733	GPAA1	OMIM:617810
HP:0000648	Optic atrophy	2232	FDXR	ORPHA:543470
HP:0000648	Optic atrophy	2232	FDXR	OMIM:617717
HP:0000648	Optic atrophy	4849	CNOT3	OMIM:618672
HP:0000648	Optic atrophy	56947	MFF	ORPHA:485421
HP:0000648	Optic atrophy	56947	MFF	OMIM:617086
HP:0000648	Optic atrophy	4982	TNFRSF11B	ORPHA:2801
HP:0000648	Optic atrophy	8792	TNFRSF11A	ORPHA:2801
HP:0000648	Optic atrophy	8792	TNFRSF11A	OMIM:612301
HP:0000648	Optic atrophy	8792	TNFRSF11A	ORPHA:1782
HP:0000648	Optic atrophy	2263	FGFR2	OMIM:123790
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:794
HP:0000648	Optic atrophy	2263	FGFR2	OMIM:123500
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:207
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:87
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:1555
HP:0000648	Optic atrophy	9562	MINPP1	OMIM:619527
HP:0000648	Optic atrophy	9562	MINPP1	ORPHA:284339
HP:0000648	Optic atrophy	256471	MFSD8	OMIM:610951
HP:0000648	Optic atrophy	7841	MOGS	ORPHA:79330
HP:0000648	Optic atrophy	7841	MOGS	OMIM:606056
HP:0000648	Optic atrophy	56652	TWNK	OMIM:271245
HP:0000648	Optic atrophy	56652	TWNK	ORPHA:1186
HP:0000648	Optic atrophy	2271	FH	OMIM:606812
HP:0000648	Optic atrophy	5981	RFC1	ORPHA:504476
HP:0000648	Optic atrophy	197258	FCSK	OMIM:618324
HP:0000648	Optic atrophy	2395	FXN	OMIM:229300
HP:0000648	Optic atrophy	2395	FXN	ORPHA:95
HP:0000648	Optic atrophy	10463	SLC30A9	OMIM:617595
HP:0000648	Optic atrophy	125988	MICOS13	OMIM:618329
HP:0000648	Optic atrophy	84168	ANTXR1	OMIM:230740
HP:0000648	Optic atrophy	84168	ANTXR1	ORPHA:2067
HP:0000648	Optic atrophy	25836	NIPBL	OMIM:122470
HP:0000648	Optic atrophy	9725	TMEM63A	OMIM:618688
HP:0000648	Optic atrophy	8813	DPM1	ORPHA:79322
HP:0000648	Optic atrophy	8813	DPM1	OMIM:608799
HP:0000648	Optic atrophy	9526	MPDU1	ORPHA:79323
HP:0000648	Optic atrophy	9526	MPDU1	OMIM:609180
HP:0000648	Optic atrophy	79053	ALG8	ORPHA:79325
HP:0000648	Optic atrophy	57192	MCOLN1	OMIM:252650
HP:0000648	Optic atrophy	1967	EIF2B1	OMIM:603896
HP:0000648	Optic atrophy	10195	ALG3	OMIM:601110
HP:0000648	Optic atrophy	10533	ATG7	OMIM:619422
HP:0000648	Optic atrophy	91137	SLC25A46	OMIM:619303
HP:0000648	Optic atrophy	91137	SLC25A46	ORPHA:2254
HP:0000648	Optic atrophy	91137	SLC25A46	OMIM:616505
HP:0000648	Optic atrophy	58497	PRUNE1	OMIM:617481
HP:0000648	Optic atrophy	58497	PRUNE1	ORPHA:544469
HP:0000648	Optic atrophy	55656	INTS8	OMIM:618572
HP:0000648	Optic atrophy	11232	POLG2	OMIM:619425
HP:0000648	Optic atrophy	8905	AP1S2	OMIM:304340
HP:0000648	Optic atrophy	4594	MMUT	ORPHA:79312
HP:0000648	Optic atrophy	4594	MMUT	ORPHA:289916
HP:0000648	Optic atrophy	7291	TWIST1	ORPHA:794
HP:0000648	Optic atrophy	2261	FGFR3	ORPHA:794
HP:0000648	Optic atrophy	2261	FGFR3	ORPHA:93262
HP:0000648	Optic atrophy	4558	MT-TF	ORPHA:551
HP:0000648	Optic atrophy	4558	MT-TF	ORPHA:550
HP:0000648	Optic atrophy	4549	MT-RNR1	ORPHA:551
HP:0000648	Optic atrophy	4574	MT-TS1	ORPHA:551
HP:0000648	Optic atrophy	4574	MT-TS1	ORPHA:550
HP:0000648	Optic atrophy	4574	MT-TS1	OMIM:220110
HP:0000648	Optic atrophy	4575	MT-TS2	ORPHA:551
HP:0000648	Optic atrophy	4575	MT-TS2	ORPHA:550
HP:0000648	Optic atrophy	4571	MT-TP	ORPHA:551
HP:0000648	Optic atrophy	4572	MT-TQ	ORPHA:551
HP:0000648	Optic atrophy	4572	MT-TQ	ORPHA:550
HP:0000648	Optic atrophy	4564	MT-TH	ORPHA:551
HP:0000648	Optic atrophy	4564	MT-TH	ORPHA:550
HP:0000648	Optic atrophy	3912	LAMB1	OMIM:615191
HP:0000648	Optic atrophy	3912	LAMB1	ORPHA:352682
HP:0000648	Optic atrophy	4513	MT-CO2	ORPHA:550
HP:0000648	Optic atrophy	92840	REEP6	ORPHA:791
HP:0000648	Optic atrophy	6094	ROM1	ORPHA:791
HP:0000648	Optic atrophy	6017	RLBP1	ORPHA:791
HP:0000648	Optic atrophy	7401	CLRN1	ORPHA:791
HP:0000648	Optic atrophy	24	ABCA4	ORPHA:791
HP:0000648	Optic atrophy	130557	ZNF513	ORPHA:791
HP:0000648	Optic atrophy	582	BBS1	ORPHA:791
HP:0000648	Optic atrophy	92211	CDHR1	ORPHA:791
HP:0000648	Optic atrophy	23568	ARL2BP	ORPHA:791
HP:0000648	Optic atrophy	6121	RPE65	ORPHA:791
HP:0000648	Optic atrophy	54806	AHI1	ORPHA:791
HP:0000648	Optic atrophy	6101	RP1	ORPHA:791
HP:0000648	Optic atrophy	3419	IDH3A	ORPHA:791
HP:0000648	Optic atrophy	4751	NEK2	ORPHA:791
HP:0000648	Optic atrophy	346007	EYS	ORPHA:791
HP:0000648	Optic atrophy	8100	IFT88	ORPHA:791
HP:0000648	Optic atrophy	23020	SNRNP200	ORPHA:791
HP:0000648	Optic atrophy	762	CA4	ORPHA:791
HP:0000648	Optic atrophy	138050	HGSNAT	ORPHA:791
HP:0000648	Optic atrophy	196	AHR	ORPHA:791
HP:0000648	Optic atrophy	3614	IMPDH1	ORPHA:791
HP:0000648	Optic atrophy	123016	TTC8	ORPHA:791
HP:0000648	Optic atrophy	6103	RPGR	ORPHA:791
HP:0000648	Optic atrophy	1406	CRX	ORPHA:791
HP:0000648	Optic atrophy	5148	PDE6G	ORPHA:791
HP:0000648	Optic atrophy	26160	IFT172	ORPHA:791
HP:0000648	Optic atrophy	26121	PRPF31	ORPHA:791
HP:0000648	Optic atrophy	583	BBS2	ORPHA:791
HP:0000648	Optic atrophy	4117	MAK	ORPHA:791
HP:0000648	Optic atrophy	375298	CERKL	ORPHA:791
HP:0000648	Optic atrophy	3420	IDH3B	ORPHA:791
HP:0000648	Optic atrophy	57670	KIAA1549	ORPHA:791
HP:0000648	Optic atrophy	7275	TUB	ORPHA:791
HP:0000648	Optic atrophy	24148	PRPF6	ORPHA:791
HP:0000648	Optic atrophy	23418	CRB1	ORPHA:791
HP:0000648	Optic atrophy	10461	MERTK	ORPHA:791
HP:0000648	Optic atrophy	57709	SLC7A14	ORPHA:791
HP:0000648	Optic atrophy	768206	PRCD	ORPHA:791
HP:0000648	Optic atrophy	7399	USH2A	ORPHA:791
HP:0000648	Optic atrophy	23370	ARHGEF18	ORPHA:791
HP:0000648	Optic atrophy	5949	RBP3	ORPHA:791
HP:0000648	Optic atrophy	6010	RHO	ORPHA:791
HP:0000648	Optic atrophy	6100	RP9	ORPHA:791
HP:0000648	Optic atrophy	10002	NR2E3	ORPHA:791
HP:0000648	Optic atrophy	9227	LRAT	ORPHA:791
HP:0000648	Optic atrophy	84140	FAM161A	ORPHA:791
HP:0000648	Optic atrophy	55812	SPATA7	ORPHA:791
HP:0000648	Optic atrophy	79797	ZNF408	ORPHA:791
HP:0000648	Optic atrophy	403	ARL3	ORPHA:791
HP:0000648	Optic atrophy	5145	PDE6A	ORPHA:791
HP:0000648	Optic atrophy	10210	TOPORS	ORPHA:791
HP:0000648	Optic atrophy	8842	PROM1	ORPHA:791
HP:0000648	Optic atrophy	9128	PRPF4	ORPHA:791
HP:0000648	Optic atrophy	145226	RDH12	ORPHA:791
HP:0000648	Optic atrophy	50939	IMPG2	ORPHA:791
HP:0000648	Optic atrophy	8481	OFD1	ORPHA:791
HP:0000648	Optic atrophy	49855	SCAPER	ORPHA:791
HP:0000648	Optic atrophy	9742	IFT140	ORPHA:791
HP:0000648	Optic atrophy	2979	GUCA1B	ORPHA:791
HP:0000648	Optic atrophy	1259	CNGA1	ORPHA:791
HP:0000648	Optic atrophy	1258	CNGB1	ORPHA:791
HP:0000648	Optic atrophy	60509	AGBL5	ORPHA:791
HP:0000648	Optic atrophy	5961	PRPH2	ORPHA:791
HP:0000648	Optic atrophy	388939	PCARE	ORPHA:791
HP:0000648	Optic atrophy	7439	BEST1	ORPHA:791
HP:0000648	Optic atrophy	9785	DHX38	ORPHA:791
HP:0000648	Optic atrophy	7287	TULP1	ORPHA:791
HP:0000648	Optic atrophy	5995	RGR	ORPHA:791
HP:0000648	Optic atrophy	9129	PRPF3	ORPHA:791
HP:0000648	Optic atrophy	55975	KLHL7	ORPHA:791
HP:0000648	Optic atrophy	3617	IMPG1	ORPHA:791
HP:0000648	Optic atrophy	94137	RP1L1	ORPHA:791
HP:0000648	Optic atrophy	5158	PDE6B	ORPHA:791
HP:0000648	Optic atrophy	6102	RP2	ORPHA:791
HP:0000648	Optic atrophy	55857	KIZ	ORPHA:791
HP:0000648	Optic atrophy	64218	SEMA4A	ORPHA:791
HP:0000648	Optic atrophy	4901	NRL	ORPHA:791
HP:0000648	Optic atrophy	157657	CFAP418	ORPHA:791
HP:0000648	Optic atrophy	10594	PRPF8	ORPHA:791
HP:0000648	Optic atrophy	84100	ARL6	ORPHA:791
HP:0000648	Optic atrophy	6295	SAG	ORPHA:791
HP:0000648	Optic atrophy	10785	WDR4	OMIM:618346
HP:0000648	Optic atrophy	50	ACO2	OMIM:616289
HP:0000648	Optic atrophy	50	ACO2	OMIM:614559
HP:0000648	Optic atrophy	160418	TMTC3	OMIM:617255
HP:0000648	Optic atrophy	51728	POLR3K	OMIM:619310
HP:0000648	Optic atrophy	4719	NDUFS1	OMIM:618226
HP:0000648	Optic atrophy	4719	NDUFS1	ORPHA:255241
HP:0000648	Optic atrophy	4729	NDUFV2	OMIM:618229
HP:0000648	Optic atrophy	4729	NDUFV2	ORPHA:255241
HP:0000648	Optic atrophy	2767	GNA11	ORPHA:428
HP:0000648	Optic atrophy	846	CASR	ORPHA:428
HP:0000648	Optic atrophy	23345	SYNE1	OMIM:610743
HP:0000648	Optic atrophy	5428	POLG	OMIM:258450
HP:0000648	Optic atrophy	5428	POLG	ORPHA:254886
HP:0000648	Optic atrophy	10102	TSFM	OMIM:610505
HP:0000648	Optic atrophy	128869	PIGU	OMIM:618590
HP:0000648	Optic atrophy	10733	PLK4	OMIM:616171
HP:0000648	Optic atrophy	10733	PLK4	ORPHA:2518
HP:0000648	Optic atrophy	29887	SNX10	OMIM:615085
HP:0000648	Optic atrophy	91942	NDUFAF2	OMIM:618233
HP:0000648	Optic atrophy	91942	NDUFAF2	ORPHA:255241
HP:0000648	Optic atrophy	7084	TK2	ORPHA:254886
HP:0000648	Optic atrophy	81790	RNF170	OMIM:619686
HP:0000648	Optic atrophy	23102	TBC1D2B	OMIM:619323
HP:0000648	Optic atrophy	1436	CSF1R	OMIM:618476
HP:0000648	Optic atrophy	26610	ELP4	OMIM:617141
HP:0000648	Optic atrophy	79868	ALG13	OMIM:300884
HP:0000648	Optic atrophy	126328	NDUFA11	OMIM:618236
HP:0000648	Optic atrophy	6651	SON	OMIM:617140
HP:0000648	Optic atrophy	6651	SON	ORPHA:500150
HP:0000648	Optic atrophy	10978	CLP1	ORPHA:411493
HP:0000648	Optic atrophy	9342	SNAP29	ORPHA:66631
HP:0000648	Optic atrophy	8882	ZPR1	OMIM:619321
HP:0000648	Optic atrophy	29078	NDUFAF4	OMIM:618237
HP:0000648	Optic atrophy	79133	NDUFAF5	OMIM:618238
HP:0000648	Optic atrophy	79133	NDUFAF5	ORPHA:255241
HP:0000648	Optic atrophy	7248	TSC1	ORPHA:538
HP:0000648	Optic atrophy	7249	TSC2	ORPHA:538
HP:0000648	Optic atrophy	11152	WDR45	ORPHA:329284
HP:0000648	Optic atrophy	443	ASPA	ORPHA:314911
HP:0000648	Optic atrophy	443	ASPA	OMIM:271900
HP:0000648	Optic atrophy	154881	KCTD7	OMIM:611726
HP:0000648	Optic atrophy	154881	KCTD7	ORPHA:263516
HP:0000648	Optic atrophy	84892	POMGNT2	ORPHA:899
HP:0000648	Optic atrophy	1282	COL4A1	ORPHA:899
HP:0000648	Optic atrophy	729920	CRPPA	ORPHA:899
HP:0000648	Optic atrophy	10329	RXYLT1	ORPHA:899
HP:0000648	Optic atrophy	1605	DAG1	ORPHA:899
HP:0000648	Optic atrophy	11041	B4GAT1	ORPHA:899
HP:0000648	Optic atrophy	84197	POMK	ORPHA:899
HP:0000648	Optic atrophy	84197	POMK	ORPHA:370959
HP:0000648	Optic atrophy	79944	L2HGDH	OMIM:236792
HP:0000648	Optic atrophy	8869	ST3GAL5	OMIM:609056
HP:0000648	Optic atrophy	6904	TBCD	ORPHA:496641
HP:0000648	Optic atrophy	6904	TBCD	OMIM:617193
HP:0000648	Optic atrophy	4976	OPA1	ORPHA:98673
HP:0000648	Optic atrophy	4976	OPA1	OMIM:165500
HP:0000648	Optic atrophy	4976	OPA1	OMIM:210000
HP:0000648	Optic atrophy	4976	OPA1	OMIM:125250
HP:0000648	Optic atrophy	4976	OPA1	ORPHA:1215
HP:0000648	Optic atrophy	5934	RBL2	OMIM:619690
HP:0000648	Optic atrophy	114548	NLRP3	ORPHA:575
HP:0000648	Optic atrophy	56915	EXOSC5	OMIM:619576
HP:0000648	Optic atrophy	22930	RAB3GAP1	OMIM:600118
HP:0000648	Optic atrophy	22930	RAB3GAP1	ORPHA:2510
HP:0000648	Optic atrophy	55572	FOXRED1	OMIM:618241
HP:0000648	Optic atrophy	55572	FOXRED1	ORPHA:255241
HP:0000648	Optic atrophy	123263	MTFMT	OMIM:618248
HP:0000648	Optic atrophy	123263	MTFMT	OMIM:614947
HP:0000648	Optic atrophy	123263	MTFMT	ORPHA:255241
HP:0000648	Optic atrophy	51079	NDUFA13	OMIM:618249
HP:0000648	Optic atrophy	51079	NDUFA13	ORPHA:255241
HP:0000648	Optic atrophy	2077	ERF	ORPHA:207
HP:0000648	Optic atrophy	549	AUH	OMIM:250950
HP:0000648	Optic atrophy	1312	COMT	ORPHA:567
HP:0000648	Optic atrophy	221037	JMJD1C	ORPHA:567
HP:0000648	Optic atrophy	2812	GP1BB	ORPHA:567
HP:0000648	Optic atrophy	6239	RREB1	ORPHA:567
HP:0000648	Optic atrophy	6899	TBX1	ORPHA:567
HP:0000648	Optic atrophy	7290	HIRA	ORPHA:567
HP:0000648	Optic atrophy	9632	SEC24C	ORPHA:567
HP:0000648	Optic atrophy	7353	UFD1	ORPHA:567
HP:0000648	Optic atrophy	421	ARVCF	ORPHA:567
HP:0000648	Optic atrophy	2717	GLA	ORPHA:324
HP:0000648	Optic atrophy	84314	TMEM107	ORPHA:564
HP:0000648	Optic atrophy	26123	TCTN3	ORPHA:564
HP:0000648	Optic atrophy	79867	TCTN2	ORPHA:564
HP:0000648	Optic atrophy	80776	B9D2	ORPHA:564
HP:0000648	Optic atrophy	79600	TCTN1	ORPHA:564
HP:0000648	Optic atrophy	57096	RPGRIP1	ORPHA:564
HP:0000648	Optic atrophy	79848	CSPP1	ORPHA:564
HP:0000648	Optic atrophy	79848	CSPP1	OMIM:615636
HP:0000648	Optic atrophy	80184	CEP290	ORPHA:564
HP:0000648	Optic atrophy	51259	TMEM216	ORPHA:564
HP:0000648	Optic atrophy	57545	CC2D2A	ORPHA:564
HP:0000648	Optic atrophy	79583	TMEM231	ORPHA:564
HP:0000648	Optic atrophy	91147	TMEM67	ORPHA:564
HP:0000648	Optic atrophy	79770	TXNDC15	ORPHA:564
HP:0000648	Optic atrophy	27077	B9D1	ORPHA:564
HP:0000648	Optic atrophy	23322	RPGRIP1L	ORPHA:564
HP:0000648	Optic atrophy	54903	MKS1	ORPHA:564
HP:0000648	Optic atrophy	65062	TMEM237	ORPHA:564
HP:0000648	Optic atrophy	65062	TMEM237	OMIM:614424
HP:0000648	Optic atrophy	112812	FDX2	OMIM:251900
HP:0000648	Optic atrophy	51102	MECR	OMIM:617282
HP:0000648	Optic atrophy	51102	MECR	ORPHA:508093
HP:0000648	Optic atrophy	23258	DENND5A	OMIM:617281
HP:0000648	Optic atrophy	4784	NFIX	ORPHA:561
HP:0000648	Optic atrophy	9758	FRMPD4	OMIM:300983
HP:0000648	Optic atrophy	54681	P4HTM	OMIM:618493
HP:0000648	Optic atrophy	4700	NDUFA6	OMIM:618253
HP:0000648	Optic atrophy	2071	ERCC3	OMIM:610651
HP:0000648	Optic atrophy	2071	ERCC3	ORPHA:910
HP:0000648	Optic atrophy	2071	ERCC3	ORPHA:220295
HP:0000648	Optic atrophy	5573	PRKAR1A	OMIM:101800
HP:0000648	Optic atrophy	64374	SIL1	ORPHA:559
HP:0000648	Optic atrophy	51763	INPP5K	ORPHA:559
HP:0000648	Optic atrophy	60386	SLC25A19	ORPHA:99742
HP:0000648	Optic atrophy	60386	SLC25A19	OMIM:607196
HP:0000648	Optic atrophy	28982	FLVCR1	OMIM:609033
HP:0000648	Optic atrophy	3028	HSD17B10	ORPHA:391428
HP:0000648	Optic atrophy	3028	HSD17B10	OMIM:300438
HP:0000648	Optic atrophy	84065	TMEM222	OMIM:619470
HP:0000648	Optic atrophy	4041	LRP5	ORPHA:178377
HP:0000648	Optic atrophy	29926	GMPPA	ORPHA:869
HP:0000648	Optic atrophy	60684	TRAPPC11	ORPHA:869
HP:0000648	Optic atrophy	8086	AAAS	ORPHA:869
HP:0000648	Optic atrophy	8086	AAAS	OMIM:231550
HP:0000648	Optic atrophy	526	ATP6V1B2	ORPHA:79500
HP:0000648	Optic atrophy	57465	TBC1D24	ORPHA:79500
HP:0000648	Optic atrophy	57465	TBC1D24	ORPHA:352596
HP:0000648	Optic atrophy	57465	TBC1D24	OMIM:220500
HP:0000648	Optic atrophy	57465	TBC1D24	OMIM:615338
HP:0000648	Optic atrophy	136647	MPLKIP	OMIM:234050
HP:0000648	Optic atrophy	493856	CISD2	OMIM:604928
HP:0000648	Optic atrophy	493856	CISD2	ORPHA:3463
HP:0000648	Optic atrophy	22978	NT5C2	ORPHA:320396
HP:0000648	Optic atrophy	22978	NT5C2	OMIM:613162
HP:0000648	Optic atrophy	100147744	RNU7-1	OMIM:619487
HP:0000648	Optic atrophy	5189	PEX1	OMIM:601539
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:772
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:44
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:912
HP:0000648	Optic atrophy	51715	RAB23	OMIM:201000
HP:0000648	Optic atrophy	79152	FA2H	ORPHA:171629
HP:0000648	Optic atrophy	79152	FA2H	ORPHA:329308
HP:0000648	Optic atrophy	79152	FA2H	OMIM:612319
HP:0000648	Optic atrophy	9373	PLAA	ORPHA:521426
HP:0000648	Optic atrophy	9373	PLAA	OMIM:617527
HP:0000648	Optic atrophy	23516	SLC39A14	OMIM:144755
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:772
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:44
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:912
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:772
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:44
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:912
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:772
HP:0000648	Optic atrophy	5828	PEX2	OMIM:614866
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:44
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:912
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:772
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:44
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:912
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:772
HP:0000648	Optic atrophy	9409	PEX16	OMIM:614877
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:44
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:912
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:772
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:95433
HP:0000648	Optic atrophy	5190	PEX6	OMIM:614863
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:44
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:912
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:772
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:44
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:912
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:772
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:44
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:912
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:772
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:44
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:912
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:772
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:44
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:912
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:772
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:44
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:912
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:772
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:44
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:912
HP:0000648	Optic atrophy	23636	NUP62	ORPHA:225154
HP:0000648	Optic atrophy	23636	NUP62	OMIM:271930
HP:0000648	Optic atrophy	103	ADAR	ORPHA:225154
HP:0000648	Optic atrophy	6389	SDHA	OMIM:619259
HP:0000648	Optic atrophy	6389	SDHA	ORPHA:255241
HP:0000648	Optic atrophy	6389	SDHA	OMIM:252011
HP:0000648	Optic atrophy	84231	TRAF7	OMIM:618164
HP:0000648	Optic atrophy	4668	NAGA	OMIM:609241
HP:0000648	Optic atrophy	4668	NAGA	ORPHA:79279
HP:0000648	Optic atrophy	131118	DNAJC19	ORPHA:66634
HP:0000648	Optic atrophy	131118	DNAJC19	OMIM:610198
HP:0000648	Optic atrophy	51594	NBAS	OMIM:614800
HP:0000648	Optic atrophy	11043	MID2	OMIM:300928
HP:0000648	Optic atrophy	2581	GALC	ORPHA:206436
HP:0000648	Optic atrophy	2581	GALC	OMIM:245200
HP:0000648	Optic atrophy	84233	TMEM126A	OMIM:612989
HP:0000648	Optic atrophy	9897	WASHC5	ORPHA:7
HP:0000648	Optic atrophy	28952	CCDC22	ORPHA:7
HP:0000648	Optic atrophy	1678	TIMM8A	ORPHA:52368
HP:0000648	Optic atrophy	79644	SRD5A3	ORPHA:324737
HP:0000648	Optic atrophy	79644	SRD5A3	OMIM:612379
HP:0000648	Optic atrophy	129285	PPP1R21	OMIM:619383
HP:0000648	Optic atrophy	114034	TOE1	ORPHA:284339
HP:0000648	Optic atrophy	114034	TOE1	OMIM:614969
HP:0000648	Optic atrophy	4038	LRP4	ORPHA:3152
HP:0000648	Optic atrophy	1496	CTNNA2	OMIM:618174
HP:0000648	Optic atrophy	27445	PCLO	OMIM:608027
HP:0000648	Optic atrophy	8517	IKBKG	OMIM:308300
HP:0000648	Optic atrophy	1462	VCAN	OMIM:143200
HP:0000648	Optic atrophy	8398	PLA2G6	OMIM:610217
HP:0000648	Optic atrophy	8398	PLA2G6	ORPHA:35069
HP:0000648	Optic atrophy	8398	PLA2G6	OMIM:256600
HP:0000648	Optic atrophy	10134	BCAP31	OMIM:300475
HP:0000648	Optic atrophy	10134	BCAP31	ORPHA:369939
HP:0000648	Optic atrophy	23769	FLRT1	ORPHA:320406
HP:0000648	Optic atrophy	64837	KLC2	ORPHA:320406
HP:0000648	Optic atrophy	64837	KLC2	OMIM:609541
HP:0000648	Optic atrophy	4570	MT-TN	OMIM:220110
HP:0000648	Optic atrophy	6834	SURF1	OMIM:220110
HP:0000648	Optic atrophy	6834	SURF1	ORPHA:70474
HP:0000648	Optic atrophy	6834	SURF1	ORPHA:255241
HP:0000648	Optic atrophy	25821	MTO1	OMIM:614702
HP:0000648	Optic atrophy	145173	B3GLCT	ORPHA:709
HP:0000648	Optic atrophy	2896	GRN	OMIM:614706
HP:0000648	Optic atrophy	80207	OPA3	OMIM:165300
HP:0000648	Optic atrophy	80207	OPA3	OMIM:258501
HP:0000648	Optic atrophy	80207	OPA3	ORPHA:67036
HP:0000648	Optic atrophy	4758	NEU1	ORPHA:93399
HP:0000648	Optic atrophy	4758	NEU1	ORPHA:93400
HP:0000648	Optic atrophy	79581	SLC52A2	OMIM:614707
HP:0000648	Optic atrophy	23126	POGZ	ORPHA:468678
HP:0000648	Optic atrophy	51218	GLRX5	ORPHA:401866
HP:0000648	Optic atrophy	51218	GLRX5	OMIM:616859
HP:0000648	Optic atrophy	374654	KIF7	OMIM:200990
HP:0000648	Optic atrophy	170302	ARX	OMIM:300004
HP:0000648	Optic atrophy	100996717	NOTCH2NLC	ORPHA:2289
HP:0000648	Optic atrophy	9640	ZNF592	ORPHA:83472
HP:0000648	Optic atrophy	1717	DHCR7	ORPHA:818
HP:0000648	Optic atrophy	5290	PIK3CA	ORPHA:99802
HP:0000648	Optic atrophy	5290	PIK3CA	ORPHA:60040
HP:0000648	Optic atrophy	2475	MTOR	ORPHA:99802
HP:0000648	Optic atrophy	10000	AKT3	ORPHA:99802
HP:0000648	Optic atrophy	271	AMPD2	OMIM:615809
HP:0000648	Optic atrophy	51204	TACO1	OMIM:619052
HP:0000648	Optic atrophy	51204	TACO1	ORPHA:255241
HP:0000648	Optic atrophy	55037	PTCD3	OMIM:619057
HP:0000648	Optic atrophy	1757	SARDH	ORPHA:3129
HP:0000648	Optic atrophy	1716	DGUOK	ORPHA:329314
HP:0000648	Optic atrophy	55157	DARS2	ORPHA:137898
HP:0000648	Optic atrophy	686	BTD	OMIM:253260
HP:0000648	Optic atrophy	686	BTD	ORPHA:79241
HP:0000648	Optic atrophy	546	ATRX	ORPHA:847
HP:0000648	Optic atrophy	546	ATRX	OMIM:309580
HP:0000648	Optic atrophy	10367	MICU1	ORPHA:401768
HP:0000648	Optic atrophy	10367	MICU1	OMIM:615673
HP:0000648	Optic atrophy	9839	ZEB2	ORPHA:261552
HP:0000648	Optic atrophy	54476	RNF216	ORPHA:1173
HP:0000648	Optic atrophy	10908	PNPLA6	ORPHA:1173
HP:0000648	Optic atrophy	26090	ABHD12	OMIM:612674
HP:0000648	Optic atrophy	10382	TUBB4A	OMIM:612438
HP:0000648	Optic atrophy	84947	SERAC1	OMIM:614739
HP:0000648	Optic atrophy	1798	DPAGT1	ORPHA:86309
HP:0000648	Optic atrophy	7025	NR2F1	ORPHA:401777
HP:0000648	Optic atrophy	7025	NR2F1	OMIM:615722
HP:0000648	Optic atrophy	1593	CYP27A1	ORPHA:909
HP:0000648	Optic atrophy	11340	EXOSC8	ORPHA:2254
HP:0000648	Optic atrophy	5393	EXOSC9	ORPHA:2254
HP:0000648	Optic atrophy	23287	AGTPBP1	ORPHA:2254
HP:0000648	Optic atrophy	51010	EXOSC3	ORPHA:2254
HP:0000648	Optic atrophy	7443	VRK1	ORPHA:2254
HP:0000648	Optic atrophy	5080	PAX6	ORPHA:2253
HP:0000648	Optic atrophy	3748	KCNC3	ORPHA:98768
HP:0000648	Optic atrophy	3748	KCNC3	OMIM:605259
HP:0000648	Optic atrophy	80025	PANK2	OMIM:234200
HP:0000648	Optic atrophy	80025	PANK2	ORPHA:216873
HP:0000648	Optic atrophy	11128	POLR3A	ORPHA:447896
HP:0000648	Optic atrophy	11128	POLR3A	ORPHA:3455
HP:0000648	Optic atrophy	11128	POLR3A	OMIM:607694
HP:0000648	Optic atrophy	8050	PDHX	OMIM:245349
HP:0000648	Optic atrophy	4256	MGP	ORPHA:85202
HP:0000648	Optic atrophy	63895	PIEZO2	ORPHA:1154
HP:0000648	Optic atrophy	25828	TXN2	OMIM:616811
HP:0000648	Optic atrophy	471	ATIC	OMIM:608688
HP:0000648	Optic atrophy	6742	SSBP1	OMIM:165510
HP:0000648	Optic atrophy	23065	EMC1	ORPHA:480898
HP:0000648	Optic atrophy	23065	EMC1	OMIM:616875
HP:0000648	Optic atrophy	6310	ATXN1	ORPHA:98755
HP:0000648	Optic atrophy	6310	ATXN1	OMIM:164400
HP:0000648	Optic atrophy	8573	CASK	ORPHA:163937
HP:0000648	Optic atrophy	50484	RRM2B	OMIM:268315
HP:0000648	Optic atrophy	55275	VPS53	OMIM:615851
HP:0000648	Optic atrophy	50628	GEMIN4	OMIM:617913
HP:0000648	Optic atrophy	283989	TSEN54	OMIM:277470
HP:0000648	Optic atrophy	81846	SBF2	ORPHA:99956
HP:0000648	Optic atrophy	64802	NMNAT1	OMIM:608553
HP:0000648	Optic atrophy	22856	CHSY1	OMIM:605282
HP:0000648	Optic atrophy	22856	CHSY1	ORPHA:363417
HP:0000648	Optic atrophy	2776	GNAQ	ORPHA:3205
HP:0000648	Optic atrophy	92154	MTSS2	OMIM:620086
HP:0000648	Optic atrophy	28962	OSTM1	OMIM:259720
HP:0000648	Optic atrophy	23590	PDSS1	OMIM:614651
HP:0000648	Optic atrophy	79628	SH3TC2	ORPHA:99949
HP:0000648	Optic atrophy	57724	EPG5	ORPHA:1493
HP:0000648	Optic atrophy	9230	RAB11B	OMIM:617807
HP:0000648	Optic atrophy	90417	KNSTRN	OMIM:613328
HP:0000648	Optic atrophy	5293	PIK3CD	OMIM:613328
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:910
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:1466
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:220295
HP:0000648	Optic atrophy	7507	XPA	ORPHA:910
HP:0000648	Optic atrophy	7508	XPC	ORPHA:910
HP:0000648	Optic atrophy	1643	DDB2	ORPHA:910
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:910
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:1466
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:220295
HP:0000648	Optic atrophy	8600	TNFSF11	OMIM:259710
HP:0000648	Optic atrophy	10075	HUWE1	OMIM:309590
HP:0000648	Optic atrophy	53616	ADAM22	OMIM:617933
HP:0000648	Optic atrophy	7473	WNT3	ORPHA:3301
HP:0000648	Optic atrophy	340419	RSPO2	ORPHA:3301
HP:0000648	Optic atrophy	1806	DPYD	OMIM:274270
HP:0000648	Optic atrophy	998	CDC42	OMIM:616737
HP:0000648	Optic atrophy	998	CDC42	ORPHA:487796
HP:0000648	Optic atrophy	10413	YAP1	ORPHA:1473
HP:0000648	Optic atrophy	10560	SLC19A2	ORPHA:49827
HP:0000648	Optic atrophy	10560	SLC19A2	OMIM:249270
HP:0000648	Optic atrophy	6314	ATXN7	OMIM:164500
HP:0000648	Optic atrophy	10342	TFG	ORPHA:431329
HP:0000648	Optic atrophy	10342	TFG	OMIM:615658
HP:0000648	Optic atrophy	9512	PMPCB	OMIM:617954
HP:0000648	Optic atrophy	2067	ERCC1	ORPHA:1466
HP:0000648	Optic atrophy	10352	WARS2	OMIM:617710
HP:0000648	Optic atrophy	2058	EPRS1	OMIM:617951
HP:0000648	Optic atrophy	54974	THG1L	OMIM:618800
HP:0000648	Optic atrophy	5604	MAP2K1	ORPHA:1340
HP:0000648	Optic atrophy	5605	MAP2K2	ORPHA:1340
HP:0000648	Optic atrophy	3845	KRAS	ORPHA:1340
HP:0000648	Optic atrophy	259232	NALCN	OMIM:615419
HP:0000648	Optic atrophy	128989	TANGO2	ORPHA:480864
HP:0000648	Optic atrophy	128989	TANGO2	OMIM:616878
HP:0000648	Optic atrophy	64093	SMOC1	ORPHA:1106
HP:0000648	Optic atrophy	9420	CYP7B1	OMIM:270800
HP:0000648	Optic atrophy	4007	PRICKLE3	OMIM:308905
HP:0000648	Optic atrophy	57511	COG6	OMIM:614576
HP:0000648	Optic atrophy	128637	TBC1D20	OMIM:615663
HP:0000648	Optic atrophy	128637	TBC1D20	ORPHA:2510
HP:0000648	Optic atrophy	1729	DIAPH1	OMIM:616632
HP:0000648	Optic atrophy	57572	DOCK6	OMIM:614219
HP:0000648	Optic atrophy	760	CA2	ORPHA:2785
HP:0000648	Optic atrophy	64840	PORCN	OMIM:305600
HP:0000648	Optic atrophy	6197	RPS6KA3	ORPHA:192
HP:0000648	Optic atrophy	51501	HIKESHI	OMIM:616881
HP:0000648	Optic atrophy	25782	RAB3GAP2	OMIM:614225
HP:0000648	Optic atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0000648	Optic atrophy	22931	RAB18	OMIM:614222
HP:0000648	Optic atrophy	22931	RAB18	ORPHA:2510
HP:0000648	Optic atrophy	189	AGXT	OMIM:259900
HP:0000648	Optic atrophy	22934	RPIA	OMIM:608611
HP:0000648	Optic atrophy	7040	TGFB1	ORPHA:1328
HP:0000648	Optic atrophy	25915	NDUFAF3	ORPHA:70474
HP:0000648	Optic atrophy	4714	NDUFB8	ORPHA:70474
HP:0000648	Optic atrophy	9997	SCO2	ORPHA:70474
HP:0000648	Optic atrophy	6452	SH3BP2	ORPHA:184
HP:0000648	Optic atrophy	51124	IER3IP1	OMIM:614231
HP:0000648	Optic atrophy	51816	ADA2	OMIM:615688
HP:0000648	Optic atrophy	3832	KIF11	ORPHA:2526
HP:0000648	Optic atrophy	3832	KIF11	OMIM:152950
HP:0000648	Optic atrophy	55704	CCDC88A	OMIM:617507
HP:0000648	Optic atrophy	54676	GTPBP2	OMIM:617988
HP:0000648	Optic atrophy	5456	POU3F4	ORPHA:1435
HP:0000648	Optic atrophy	80704	SLC19A3	ORPHA:255241
HP:0000648	Optic atrophy	4723	NDUFV1	ORPHA:255241
HP:0000648	Optic atrophy	55967	NDUFA12	ORPHA:255241
HP:0000648	Optic atrophy	4724	NDUFS4	ORPHA:255241
HP:0000648	Optic atrophy	4728	NDUFS8	ORPHA:255241
HP:0000648	Optic atrophy	137682	NDUFAF6	ORPHA:255241
HP:0000648	Optic atrophy	4722	NDUFS3	ORPHA:255241
HP:0000648	Optic atrophy	5160	PDHA1	ORPHA:255241
HP:0000648	Optic atrophy	100131801	PET100	ORPHA:255241
HP:0000648	Optic atrophy	1355	COX15	ORPHA:255241
HP:0000648	Optic atrophy	1892	ECHS1	ORPHA:255241
HP:0000648	Optic atrophy	374291	NDUFS7	ORPHA:255241
HP:0000648	Optic atrophy	4705	NDUFA10	ORPHA:255241
HP:0000648	Optic atrophy	51601	LIPT1	ORPHA:255241
HP:0000648	Optic atrophy	4695	NDUFA2	ORPHA:255241
HP:0000648	Optic atrophy	4697	NDUFA4	ORPHA:255241
HP:0000648	Optic atrophy	4704	NDUFA9	ORPHA:255241
HP:0000648	Optic atrophy	5538	PPT1	OMIM:256730
HP:0000648	Optic atrophy	387	RHOA	OMIM:618727
HP:0000648	Optic atrophy	55315	SLC29A3	ORPHA:1782
HP:0000648	Optic atrophy	8777	MPDZ	OMIM:615219
HP:0000648	Optic atrophy	25974	MMACHC	ORPHA:79282
HP:0000648	Optic atrophy	85378	TUBGCP6	ORPHA:2518
HP:0000648	Optic atrophy	27229	TUBGCP4	ORPHA:2518
HP:0000648	Optic atrophy	57410	SCYL1	ORPHA:466794
HP:0000648	Optic atrophy	35	ACADS	ORPHA:26792
HP:0000648	Optic atrophy	80169	CTC1	OMIM:612199
HP:0000648	Optic atrophy	10844	TUBGCP2	OMIM:618737
HP:0000648	Optic atrophy	221927	BRAT1	OMIM:614498
HP:0000648	Optic atrophy	55753	OGDHL	OMIM:619701
HP:0000648	Optic atrophy	10939	AFG3L2	OMIM:618977
HP:0000648	Optic atrophy	5297	PI4KA	OMIM:619708
HP:0000648	Optic atrophy	10312	TCIRG1	ORPHA:210110
HP:0000648	Optic atrophy	1186	CLCN7	ORPHA:210110
HP:0000648	Optic atrophy	9842	PLEKHM1	ORPHA:210110
HP:0007755	Juvenile epithelial corneal dystrophy	7045	TGFBI	OMIM:602082
HP:0033614	Tracheal bronchus	79989	IFT56	OMIM:619534
HP:0007769	Peripheral retinal degeneration	6247	RS1	OMIM:312700
HP:0007769	Peripheral retinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	2202	EFEMP1	OMIM:126600
HP:0007769	Peripheral retinal degeneration	3075	CFH	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	3426	CFI	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	5456	POU3F4	ORPHA:1435
HP:0007769	Peripheral retinal degeneration	1280	COL2A1	ORPHA:485
HP:0007769	Peripheral retinal degeneration	1280	COL2A1	OMIM:619248
HP:0007769	Peripheral retinal degeneration	55214	P3H2	OMIM:614292
HP:0007769	Peripheral retinal degeneration	3769	KCNJ13	OMIM:193230
HP:0007760	Crystalline corneal dystrophy	285440	CYP4V2	ORPHA:41751
HP:0007760	Crystalline corneal dystrophy	29914	UBIAD1	OMIM:121800
HP:0007761	Pericentral scotoma	6102	RP2	OMIM:312600
HP:0007763	Retinal telangiectasia	80169	CTC1	OMIM:612199
HP:0007763	Retinal telangiectasia	2658	GDF2	ORPHA:774
HP:0007763	Retinal telangiectasia	94	ACVRL1	ORPHA:774
HP:0007763	Retinal telangiectasia	4089	SMAD4	ORPHA:774
HP:0007763	Retinal telangiectasia	2022	ENG	ORPHA:774
HP:0007763	Retinal telangiectasia	84277	DNAJC30	OMIM:619382
HP:0007763	Retinal telangiectasia	84277	DNAJC30	ORPHA:104
HP:0007763	Retinal telangiectasia	2483	FRG1	OMIM:158900
HP:0007763	Retinal telangiectasia	29072	SETD2	OMIM:620157
HP:0007763	Retinal telangiectasia	29072	SETD2	OMIM:620155
HP:0007763	Retinal telangiectasia	79991	STN1	OMIM:617341
HP:0007763	Retinal telangiectasia	5111	PCNA	ORPHA:438134
HP:0007763	Retinal telangiectasia	4535	MT-ND1	ORPHA:104
HP:0007763	Retinal telangiectasia	4536	MT-ND2	ORPHA:104
HP:0007763	Retinal telangiectasia	4538	MT-ND4	ORPHA:104
HP:0007763	Retinal telangiectasia	4720	NDUFS2	ORPHA:104
HP:0007763	Retinal telangiectasia	4512	MT-CO1	ORPHA:104
HP:0007763	Retinal telangiectasia	4514	MT-CO3	ORPHA:104
HP:0007763	Retinal telangiectasia	4519	MT-CYB	ORPHA:104
HP:0007763	Retinal telangiectasia	4508	MT-ATP6	ORPHA:104
HP:0007763	Retinal telangiectasia	4540	MT-ND5	ORPHA:104
HP:0007763	Retinal telangiectasia	4541	MT-ND6	ORPHA:104
HP:0007763	Retinal telangiectasia	4539	MT-ND4L	ORPHA:104
HP:0007763	Retinal telangiectasia	4693	NDP	ORPHA:891
HP:0007763	Retinal telangiectasia	1499	CTNNB1	ORPHA:891
HP:0007763	Retinal telangiectasia	23554	TSPAN12	ORPHA:891
HP:0007763	Retinal telangiectasia	4041	LRP5	ORPHA:891
HP:0007763	Retinal telangiectasia	79797	ZNF408	ORPHA:891
HP:0007763	Retinal telangiectasia	8322	FZD4	ORPHA:891
HP:0000657	Oculomotor apraxia	6095	RORA	OMIM:618060
HP:0000657	Oculomotor apraxia	55906	ZC4H2	OMIM:301041
HP:0000657	Oculomotor apraxia	55906	ZC4H2	OMIM:314580
HP:0000657	Oculomotor apraxia	55906	ZC4H2	ORPHA:3454
HP:0000657	Oculomotor apraxia	4137	MAPT	ORPHA:240094
HP:0000657	Oculomotor apraxia	2895	GRID2	OMIM:616204
HP:0000657	Oculomotor apraxia	26160	IFT172	OMIM:615630
HP:0000657	Oculomotor apraxia	10059	DNM1L	OMIM:614388
HP:0000657	Oculomotor apraxia	80184	CEP290	OMIM:610188
HP:0000657	Oculomotor apraxia	79848	CSPP1	OMIM:615636
HP:0000657	Oculomotor apraxia	79848	CSPP1	ORPHA:397715
HP:0000657	Oculomotor apraxia	79848	CSPP1	ORPHA:475
HP:0000657	Oculomotor apraxia	673	BRAF	OMIM:115150
HP:0000657	Oculomotor apraxia	11284	PNKP	ORPHA:459033
HP:0000657	Oculomotor apraxia	11284	PNKP	OMIM:616267
HP:0000657	Oculomotor apraxia	51259	TMEM216	OMIM:608091
HP:0000657	Oculomotor apraxia	56623	INPP5E	OMIM:213300
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:220493
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:1454
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:475
HP:0000657	Oculomotor apraxia	23028	KDM1A	OMIM:616728
HP:0000657	Oculomotor apraxia	23028	KDM1A	ORPHA:477993
HP:0000657	Oculomotor apraxia	3708	ITPR1	ORPHA:208513
HP:0000657	Oculomotor apraxia	4867	NPHP1	OMIM:609583
HP:0000657	Oculomotor apraxia	4867	NPHP1	ORPHA:220497
HP:0000657	Oculomotor apraxia	91147	TMEM67	OMIM:216360
HP:0000657	Oculomotor apraxia	91147	TMEM67	ORPHA:1454
HP:0000657	Oculomotor apraxia	91147	TMEM67	ORPHA:475
HP:0000657	Oculomotor apraxia	91147	TMEM67	OMIM:610688
HP:0000657	Oculomotor apraxia	9786	KIAA0586	ORPHA:397715
HP:0000657	Oculomotor apraxia	9786	KIAA0586	ORPHA:475
HP:0000657	Oculomotor apraxia	6658	SOX3	ORPHA:67045
HP:0000657	Oculomotor apraxia	613	BCR	ORPHA:261330
HP:0000657	Oculomotor apraxia	1399	CRKL	ORPHA:261330
HP:0000657	Oculomotor apraxia	5594	MAPK1	ORPHA:261330
HP:0000657	Oculomotor apraxia	51506	UFC1	OMIM:618076
HP:0000657	Oculomotor apraxia	6311	ATXN2	OMIM:183090
HP:0000657	Oculomotor apraxia	219854	TMEM218	OMIM:619562
HP:0000657	Oculomotor apraxia	219854	TMEM218	ORPHA:475
HP:0000657	Oculomotor apraxia	4649	MYO9A	OMIM:618198
HP:0000657	Oculomotor apraxia	8878	SQSTM1	OMIM:617145
HP:0000657	Oculomotor apraxia	84162	BLTP1	OMIM:617822
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	ORPHA:220497
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	OMIM:611560
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	ORPHA:1454
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	OMIM:619113
HP:0000657	Oculomotor apraxia	65062	TMEM237	ORPHA:220497
HP:0000657	Oculomotor apraxia	65062	TMEM237	ORPHA:475
HP:0000657	Oculomotor apraxia	54806	AHI1	ORPHA:220493
HP:0000657	Oculomotor apraxia	54806	AHI1	OMIM:608629
HP:0000657	Oculomotor apraxia	54806	AHI1	ORPHA:475
HP:0000657	Oculomotor apraxia	153241	CEP120	ORPHA:220493
HP:0000657	Oculomotor apraxia	153241	CEP120	ORPHA:475
HP:0000657	Oculomotor apraxia	153241	CEP120	OMIM:617761
HP:0000657	Oculomotor apraxia	54903	MKS1	ORPHA:220493
HP:0000657	Oculomotor apraxia	54903	MKS1	ORPHA:475
HP:0000657	Oculomotor apraxia	54903	MKS1	OMIM:617121
HP:0000657	Oculomotor apraxia	95681	CEP41	ORPHA:220493
HP:0000657	Oculomotor apraxia	95681	CEP41	ORPHA:475
HP:0000657	Oculomotor apraxia	95681	CEP41	OMIM:614464
HP:0000657	Oculomotor apraxia	51010	EXOSC3	OMIM:614678
HP:0000657	Oculomotor apraxia	55768	NGLY1	ORPHA:404454
HP:0000657	Oculomotor apraxia	347733	TUBB2B	ORPHA:467166
HP:0000657	Oculomotor apraxia	7846	TUBA1A	ORPHA:467166
HP:0000657	Oculomotor apraxia	10381	TUBB3	ORPHA:467166
HP:0000657	Oculomotor apraxia	10381	TUBB3	ORPHA:300570
HP:0000657	Oculomotor apraxia	84992	PIGY	ORPHA:247262
HP:0000657	Oculomotor apraxia	84720	PIGO	ORPHA:247262
HP:0000657	Oculomotor apraxia	93210	PGAP3	ORPHA:247262
HP:0000657	Oculomotor apraxia	284098	PIGW	ORPHA:247262
HP:0000657	Oculomotor apraxia	27315	PGAP2	ORPHA:247262
HP:0000657	Oculomotor apraxia	55650	PIGV	ORPHA:247262
HP:0000657	Oculomotor apraxia	9487	PIGL	ORPHA:247262
HP:0000657	Oculomotor apraxia	8913	CACNA1G	OMIM:618087
HP:0000657	Oculomotor apraxia	215	ABCD1	ORPHA:139396
HP:0000657	Oculomotor apraxia	3756	KCNH1	OMIM:135500
HP:0000657	Oculomotor apraxia	114034	TOE1	OMIM:614969
HP:0000657	Oculomotor apraxia	5190	PEX6	ORPHA:95433
HP:0000657	Oculomotor apraxia	4361	MRE11	OMIM:604391
HP:0000657	Oculomotor apraxia	4361	MRE11	ORPHA:251347
HP:0000657	Oculomotor apraxia	10939	AFG3L2	ORPHA:313772
HP:0000657	Oculomotor apraxia	10939	AFG3L2	OMIM:614487
HP:0000657	Oculomotor apraxia	23116	TOGARAM1	OMIM:619185
HP:0000657	Oculomotor apraxia	23116	TOGARAM1	ORPHA:475
HP:0000657	Oculomotor apraxia	23203	PMPCA	ORPHA:1170
HP:0000657	Oculomotor apraxia	80173	IFT74	OMIM:619582
HP:0000657	Oculomotor apraxia	84314	TMEM107	OMIM:617563
HP:0000657	Oculomotor apraxia	84314	TMEM107	OMIM:617562
HP:0000657	Oculomotor apraxia	5147	PDE6D	OMIM:615665
HP:0000657	Oculomotor apraxia	57545	CC2D2A	ORPHA:1454
HP:0000657	Oculomotor apraxia	57545	CC2D2A	OMIM:612285
HP:0000657	Oculomotor apraxia	57545	CC2D2A	OMIM:619111
HP:0000657	Oculomotor apraxia	79583	TMEM231	OMIM:614970
HP:0000657	Oculomotor apraxia	79583	TMEM231	ORPHA:2752
HP:0000657	Oculomotor apraxia	1200	TPP1	OMIM:609270
HP:0000657	Oculomotor apraxia	1200	TPP1	ORPHA:284324
HP:0000657	Oculomotor apraxia	54840	APTX	OMIM:208920
HP:0000657	Oculomotor apraxia	10382	TUBB4A	OMIM:612438
HP:0000657	Oculomotor apraxia	65250	CPLANE1	OMIM:614615
HP:0000657	Oculomotor apraxia	65250	CPLANE1	ORPHA:475
HP:0000657	Oculomotor apraxia	6697	SPR	OMIM:612716
HP:0000657	Oculomotor apraxia	5192	PEX10	ORPHA:247815
HP:0000657	Oculomotor apraxia	79600	TCTN1	ORPHA:475
HP:0000657	Oculomotor apraxia	51684	SUFU	ORPHA:475
HP:0000657	Oculomotor apraxia	51684	SUFU	OMIM:617757
HP:0000657	Oculomotor apraxia	200894	ARL13B	ORPHA:475
HP:0000657	Oculomotor apraxia	200894	ARL13B	OMIM:612291
HP:0000657	Oculomotor apraxia	9731	CEP104	ORPHA:475
HP:0000657	Oculomotor apraxia	9731	CEP104	OMIM:616781
HP:0000657	Oculomotor apraxia	219844	HYLS1	ORPHA:475
HP:0000657	Oculomotor apraxia	23247	KATNIP	ORPHA:475
HP:0000657	Oculomotor apraxia	79867	TCTN2	ORPHA:475
HP:0000657	Oculomotor apraxia	80776	B9D2	ORPHA:475
HP:0000657	Oculomotor apraxia	10464	PIBF1	ORPHA:475
HP:0000657	Oculomotor apraxia	10464	PIBF1	OMIM:617767
HP:0000657	Oculomotor apraxia	80210	ARMC9	ORPHA:475
HP:0000657	Oculomotor apraxia	25776	CBY1	ORPHA:475
HP:0000657	Oculomotor apraxia	27077	B9D1	ORPHA:475
HP:0000657	Oculomotor apraxia	27077	B9D1	OMIM:617120
HP:0000657	Oculomotor apraxia	403	ARL3	ORPHA:475
HP:0000657	Oculomotor apraxia	403	ARL3	OMIM:618161
HP:0000657	Oculomotor apraxia	9851	KIAA0753	OMIM:619476
HP:0000657	Oculomotor apraxia	8363	H4C11	OMIM:619759
HP:0000657	Oculomotor apraxia	55280	CWF19L1	OMIM:616127
HP:0000657	Oculomotor apraxia	55280	CWF19L1	ORPHA:453521
HP:0000657	Oculomotor apraxia	23533	PIK3R5	ORPHA:64753
HP:0000657	Oculomotor apraxia	23533	PIK3R5	OMIM:615217
HP:0000657	Oculomotor apraxia	23064	SETX	ORPHA:64753
HP:0000657	Oculomotor apraxia	23064	SETX	OMIM:606002
HP:0000657	Oculomotor apraxia	51524	TMEM138	OMIM:614465
HP:0000657	Oculomotor apraxia	5828	PEX2	OMIM:614867
HP:0000657	Oculomotor apraxia	773	CACNA1A	ORPHA:2131
HP:0000657	Oculomotor apraxia	6507	SLC1A3	ORPHA:2131
HP:0000657	Oculomotor apraxia	477	ATP1A2	ORPHA:2131
HP:0000657	Oculomotor apraxia	478	ATP1A3	ORPHA:2131
HP:0000657	Oculomotor apraxia	7305	TYROBP	ORPHA:2770
HP:0000657	Oculomotor apraxia	54209	TREM2	ORPHA:2770
HP:0000657	Oculomotor apraxia	54209	TREM2	ORPHA:1020
HP:0000657	Oculomotor apraxia	1737	DLAT	OMIM:245348
HP:0000657	Oculomotor apraxia	8733	GPAA1	ORPHA:529665
HP:0000657	Oculomotor apraxia	22983	MAST1	OMIM:618273
HP:0000657	Oculomotor apraxia	79152	FA2H	ORPHA:171629
HP:0000657	Oculomotor apraxia	284217	LAMA1	OMIM:615960
HP:0000657	Oculomotor apraxia	284217	LAMA1	ORPHA:370022
HP:0000657	Oculomotor apraxia	2629	GBA1	ORPHA:2072
HP:0000657	Oculomotor apraxia	2629	GBA1	OMIM:230900
HP:0000657	Oculomotor apraxia	10463	SLC30A9	OMIM:617595
HP:0000657	Oculomotor apraxia	10273	STUB1	ORPHA:412057
HP:0000657	Oculomotor apraxia	7515	XRCC1	OMIM:617633
HP:0000657	Oculomotor apraxia	5663	PSEN1	ORPHA:1020
HP:0000657	Oculomotor apraxia	5664	PSEN2	ORPHA:1020
HP:0000657	Oculomotor apraxia	10452	TOMM40	ORPHA:1020
HP:0000657	Oculomotor apraxia	351	APP	ORPHA:1020
HP:0000657	Oculomotor apraxia	10347	ABCA7	ORPHA:1020
HP:0000657	Oculomotor apraxia	6653	SORL1	ORPHA:1020
HP:0000657	Oculomotor apraxia	87178	PNPT1	OMIM:608703
HP:0007765	Deep anterior chamber	91851	CHRDL1	OMIM:309300
HP:0007765	Deep anterior chamber	4053	LTBP2	OMIM:251750
HP:0007766	Optic disc hypoplasia	8820	HESX1	OMIM:182230
HP:0007766	Optic disc hypoplasia	57167	SALL4	ORPHA:233
HP:0007766	Optic disc hypoplasia	57167	SALL4	ORPHA:959
HP:0007766	Optic disc hypoplasia	57167	SALL4	OMIM:607323
HP:0007766	Optic disc hypoplasia	9935	MAFB	ORPHA:233
HP:0007766	Optic disc hypoplasia	1123	CHN1	ORPHA:233
HP:0007766	Optic disc hypoplasia	3192	HNRNPU	ORPHA:238769
HP:0007766	Optic disc hypoplasia	79644	SRD5A3	ORPHA:324737
HP:0007766	Optic disc hypoplasia	9342	SNAP29	OMIM:609528
HP:0007766	Optic disc hypoplasia	7025	NR2F1	ORPHA:401777
HP:0007766	Optic disc hypoplasia	324	APC	ORPHA:261584
HP:0007766	Optic disc hypoplasia	54802	TRIT1	OMIM:617873
HP:0007766	Optic disc hypoplasia	2187	FANCB	OMIM:300514
HP:0007766	Optic disc hypoplasia	55770	EXOC2	OMIM:619306
HP:0007766	Optic disc hypoplasia	5361	PLXNA1	OMIM:619955
HP:0007766	Optic disc hypoplasia	23259	DDHD2	ORPHA:320380
HP:0007766	Optic disc hypoplasia	9573	GDF3	OMIM:613703
HP:0007766	Optic disc hypoplasia	392255	GDF6	OMIM:613703
HP:0007766	Optic disc hypoplasia	5080	PAX6	ORPHA:137902
HP:0007766	Optic disc hypoplasia	4784	NFIX	ORPHA:420179
HP:0007766	Optic disc hypoplasia	11128	POLR3A	ORPHA:3455
HP:0007766	Optic disc hypoplasia	415	ARSL	ORPHA:79345
HP:0033627	Increased urine harderoporphyrin level	1371	CPOX	OMIM:618892
HP:0033628	Bowel irritability	6850	SYK	OMIM:619381
HP:0033628	Bowel irritability	389827	MYMK	OMIM:254940
HP:0007770	Hypoplasia of the retina	55624	POMGNT1	OMIM:253280
HP:0007773	Vitreoretinopathy	80781	COL18A1	OMIM:267750
HP:0007773	Vitreoretinopathy	80781	COL18A1	ORPHA:1571
HP:0007773	Vitreoretinopathy	1280	COL2A1	ORPHA:485
HP:0007773	Vitreoretinopathy	1280	COL2A1	OMIM:183900
HP:0007773	Vitreoretinopathy	1280	COL2A1	OMIM:108300
HP:0007773	Vitreoretinopathy	10002	NR2E3	OMIM:268100
HP:0007773	Vitreoretinopathy	1301	COL11A1	OMIM:154780
HP:0007773	Vitreoretinopathy	1301	COL11A1	ORPHA:560
HP:0007773	Vitreoretinopathy	1301	COL11A1	ORPHA:250984
HP:0007773	Vitreoretinopathy	4693	NDP	ORPHA:891
HP:0007773	Vitreoretinopathy	1499	CTNNB1	ORPHA:891
HP:0007773	Vitreoretinopathy	23554	TSPAN12	ORPHA:891
HP:0007773	Vitreoretinopathy	4041	LRP5	ORPHA:891
HP:0007773	Vitreoretinopathy	4041	LRP5	OMIM:259770
HP:0007773	Vitreoretinopathy	79797	ZNF408	ORPHA:891
HP:0007773	Vitreoretinopathy	8322	FZD4	ORPHA:891
HP:0007773	Vitreoretinopathy	726	CAPN5	OMIM:193235
HP:0007773	Vitreoretinopathy	1298	COL9A2	OMIM:614284
HP:0007773	Vitreoretinopathy	1298	COL9A2	ORPHA:250984
HP:0007773	Vitreoretinopathy	23418	CRB1	OMIM:172870
HP:0007773	Vitreoretinopathy	1297	COL9A1	ORPHA:250984
HP:0007773	Vitreoretinopathy	1299	COL9A3	ORPHA:250984
HP:0007773	Vitreoretinopathy	84695	LOXL3	ORPHA:250984
HP:0007773	Vitreoretinopathy	5062	PAK2	OMIM:618458
HP:0007773	Vitreoretinopathy	5062	PAK2	ORPHA:1571
HP:0007773	Vitreoretinopathy	1462	VCAN	OMIM:143200
HP:0007773	Vitreoretinopathy	2065	ERBB3	OMIM:607598
HP:0007773	Vitreoretinopathy	1302	COL11A2	ORPHA:1427
HP:0007773	Vitreoretinopathy	3769	KCNJ13	OMIM:193230
HP:0007773	Vitreoretinopathy	8314	BAP1	OMIM:619762
HP:0007773	Vitreoretinopathy	55214	P3H2	OMIM:614292
HP:0007774	Hypoplasia of the ciliary body	3913	LAMB2	OMIM:609049
HP:0007776	Sparse lower eyelashes	10262	SF3B4	ORPHA:245
HP:0007776	Sparse lower eyelashes	10262	SF3B4	OMIM:154400
HP:0007776	Sparse lower eyelashes	117581	TWIST2	ORPHA:1807
HP:0007776	Sparse lower eyelashes	6949	TCOF1	OMIM:154500
HP:0007778	Posterior retinal neovascularization	726	CAPN5	OMIM:193235
HP:0007779	Anterior segment of eye aplasia	2301	FOXE3	OMIM:610256
HP:0033631	Spondylitis	8651	SOCS1	OMIM:619375
HP:0033638	Intralobular septal thickening	653509	SFTPA1	OMIM:619611
HP:0033638	Intralobular septal thickening	6440	SFTPC	OMIM:610913
HP:0007780	Cortical pulverulent cataract	4094	MAF	OMIM:610202
HP:0007780	Cortical pulverulent cataract	3982	LIM2	OMIM:615277
HP:0007858	Chorioretinal lacunae	8449	DHX16	OMIM:618733
HP:0007858	Chorioretinal lacunae	3832	KIF11	OMIM:152950
HP:0033640	Acetabular erosions	3373	HYAL1	OMIM:601492
HP:0033643	Increased circulating very long-chain fatty acid concentration	5190	PEX6	OMIM:614862
HP:0033643	Increased circulating very long-chain fatty acid concentration	5828	PEX2	OMIM:614866
HP:0033643	Increased circulating very long-chain fatty acid concentration	5195	PEX14	OMIM:614887
HP:0033643	Increased circulating very long-chain fatty acid concentration	3295	HSD17B4	OMIM:261515
HP:0033643	Increased circulating very long-chain fatty acid concentration	5193	PEX12	OMIM:614859
HP:0033643	Increased circulating very long-chain fatty acid concentration	23600	AMACR	OMIM:614307
HP:0033643	Increased circulating very long-chain fatty acid concentration	85021	REPS1	OMIM:617916
HP:0033643	Increased circulating very long-chain fatty acid concentration	1174	AP1S1	OMIM:609313
HP:0033644	Elevated circulating erythropoietin concentration	2034	EPAS1	OMIM:611783
HP:0033644	Elevated circulating erythropoietin concentration	2056	EPO	OMIM:617907
HP:0033644	Elevated circulating erythropoietin concentration	7428	VHL	OMIM:263400
HP:0033645	Midline brainstem cleft	1630	DCC	OMIM:617542
HP:0033646	Absent hippocampal commissure	1630	DCC	OMIM:617542
HP:0033649	Paraseptal emphysema	21	ABCA3	OMIM:610921
HP:0007791	Patchy atrophy of the retinal pigment epithelium	51109	RDH11	ORPHA:436245
HP:0007791	Patchy atrophy of the retinal pigment epithelium	79797	ZNF408	OMIM:616468
HP:0007791	Patchy atrophy of the retinal pigment epithelium	114902	C1QTNF5	ORPHA:67042
HP:0007792	Microsaccadic pursuit	339453	TMEM240	OMIM:607454
HP:0007793	Granular macular appearance	2202	EFEMP1	ORPHA:75376
HP:0007793	Granular macular appearance	3075	CFH	ORPHA:75376
HP:0007793	Granular macular appearance	3426	CFI	ORPHA:75376
HP:0007793	Granular macular appearance	8842	PROM1	OMIM:608051
HP:0007793	Granular macular appearance	9227	LRAT	ORPHA:364055
HP:0007793	Granular macular appearance	55812	SPATA7	ORPHA:364055
HP:0007793	Granular macular appearance	6121	RPE65	ORPHA:364055
HP:0007793	Granular macular appearance	167691	LCA5	ORPHA:364055
HP:0007793	Granular macular appearance	1121	CHM	OMIM:303100
HP:0007795	Anterior cortical cataract	5062	PAK2	OMIM:618458
HP:0007795	Anterior cortical cataract	80207	OPA3	ORPHA:67036
HP:0007797	Retinal vascular malformation	889	KRIT1	OMIM:116860
HP:0007797	Retinal vascular malformation	11235	PDCD10	ORPHA:221061
HP:0007797	Retinal vascular malformation	83605	CCM2	ORPHA:221061
HP:0007799	Conjunctival whitish salt-like deposits	2591	GALNT3	OMIM:211900
HP:0003005	Ganglioneuroma	8929	PHOX2B	OMIM:613013
HP:0003005	Ganglioneuroma	8929	PHOX2B	ORPHA:661
HP:0003005	Ganglioneuroma	8929	PHOX2B	ORPHA:99803
HP:0003005	Ganglioneuroma	8929	PHOX2B	OMIM:209880
HP:0003005	Ganglioneuroma	1908	EDN3	ORPHA:661
HP:0003005	Ganglioneuroma	2668	GDNF	ORPHA:661
HP:0003005	Ganglioneuroma	627	BDNF	ORPHA:661
HP:0003005	Ganglioneuroma	283446	MYO1H	ORPHA:661
HP:0003005	Ganglioneuroma	5979	RET	OMIM:162300
HP:0003005	Ganglioneuroma	5979	RET	ORPHA:99803
HP:0003005	Ganglioneuroma	23095	KIF1B	OMIM:256700
HP:0003005	Ganglioneuroma	429	ASCL1	ORPHA:99803
HP:0003002	Breast carcinoma	4292	MLH1	OMIM:158320
HP:0003002	Breast carcinoma	4292	MLH1	ORPHA:587
HP:0003002	Breast carcinoma	4436	MSH2	OMIM:158320
HP:0003002	Breast carcinoma	4436	MSH2	ORPHA:587
HP:0003002	Breast carcinoma	8313	AXIN2	OMIM:608615
HP:0003002	Breast carcinoma	54894	RNF43	ORPHA:157798
HP:0003002	Breast carcinoma	388662	SLC6A17	ORPHA:457212
HP:0003002	Breast carcinoma	4913	NTHL1	ORPHA:454840
HP:0003002	Breast carcinoma	4913	NTHL1	OMIM:616415
HP:0003002	Breast carcinoma	7157	TP53	OMIM:151623
HP:0003002	Breast carcinoma	7157	TP53	OMIM:114480
HP:0003002	Breast carcinoma	7157	TP53	ORPHA:524
HP:0003002	Breast carcinoma	7157	TP53	ORPHA:145
HP:0003002	Breast carcinoma	7157	TP53	ORPHA:1333
HP:0003002	Breast carcinoma	5889	RAD51C	OMIM:613399
HP:0003002	Breast carcinoma	5889	RAD51C	ORPHA:145
HP:0003002	Breast carcinoma	545	ATR	OMIM:614564
HP:0003002	Breast carcinoma	999	CDH1	OMIM:167000
HP:0003002	Breast carcinoma	999	CDH1	OMIM:114480
HP:0003002	Breast carcinoma	5071	PRKN	OMIM:167000
HP:0003002	Breast carcinoma	4978	OPCML	OMIM:167000
HP:0003002	Breast carcinoma	207	AKT1	OMIM:167000
HP:0003002	Breast carcinoma	207	AKT1	OMIM:114480
HP:0003002	Breast carcinoma	207	AKT1	ORPHA:201
HP:0003002	Breast carcinoma	207	AKT1	OMIM:615109
HP:0003002	Breast carcinoma	2064	ERBB2	OMIM:167000
HP:0003002	Breast carcinoma	5290	PIK3CA	OMIM:167000
HP:0003002	Breast carcinoma	5290	PIK3CA	OMIM:114480
HP:0003002	Breast carcinoma	5290	PIK3CA	ORPHA:201
HP:0003002	Breast carcinoma	5290	PIK3CA	OMIM:615108
HP:0003002	Breast carcinoma	1499	CTNNB1	OMIM:167000
HP:0003002	Breast carcinoma	6794	STK11	OMIM:175200
HP:0003002	Breast carcinoma	6794	STK11	ORPHA:2869
HP:0003002	Breast carcinoma	83990	BRIP1	OMIM:114480
HP:0003002	Breast carcinoma	83990	BRIP1	ORPHA:145
HP:0003002	Breast carcinoma	3845	KRAS	OMIM:114480
HP:0003002	Breast carcinoma	3845	KRAS	ORPHA:1333
HP:0003002	Breast carcinoma	5002	SLC22A18	OMIM:114480
HP:0003002	Breast carcinoma	4835	NQO2	OMIM:114480
HP:0003002	Breast carcinoma	5245	PHB1	OMIM:114480
HP:0003002	Breast carcinoma	11200	CHEK2	OMIM:114480
HP:0003002	Breast carcinoma	11200	CHEK2	ORPHA:524
HP:0003002	Breast carcinoma	11200	CHEK2	OMIM:609265
HP:0003002	Breast carcinoma	11200	CHEK2	ORPHA:145
HP:0003002	Breast carcinoma	3161	HMMR	OMIM:114480
HP:0003002	Breast carcinoma	580	BARD1	OMIM:114480
HP:0003002	Breast carcinoma	580	BARD1	ORPHA:145
HP:0003002	Breast carcinoma	672	BRCA1	OMIM:114480
HP:0003002	Breast carcinoma	672	BRCA1	OMIM:604370
HP:0003002	Breast carcinoma	672	BRCA1	ORPHA:145
HP:0003002	Breast carcinoma	672	BRCA1	OMIM:617883
HP:0003002	Breast carcinoma	672	BRCA1	ORPHA:1333
HP:0003002	Breast carcinoma	675	BRCA2	OMIM:114480
HP:0003002	Breast carcinoma	675	BRCA2	ORPHA:145
HP:0003002	Breast carcinoma	675	BRCA2	ORPHA:1333
HP:0003002	Breast carcinoma	675	BRCA2	OMIM:612555
HP:0003002	Breast carcinoma	472	ATM	OMIM:114480
HP:0003002	Breast carcinoma	8493	PPM1D	OMIM:114480
HP:0003002	Breast carcinoma	79728	PALB2	OMIM:114480
HP:0003002	Breast carcinoma	79728	PALB2	ORPHA:145
HP:0003002	Breast carcinoma	79728	PALB2	ORPHA:1333
HP:0003002	Breast carcinoma	5888	RAD51	OMIM:114480
HP:0003002	Breast carcinoma	5888	RAD51	ORPHA:145
HP:0003002	Breast carcinoma	7517	XRCC3	OMIM:114480
HP:0003002	Breast carcinoma	9821	RB1CC1	OMIM:114480
HP:0003002	Breast carcinoma	2099	ESR1	OMIM:114480
HP:0003002	Breast carcinoma	841	CASP8	OMIM:114480
HP:0003002	Breast carcinoma	8438	RAD54L	OMIM:114480
HP:0003002	Breast carcinoma	324	APC	ORPHA:247806
HP:0003002	Breast carcinoma	324	APC	ORPHA:79665
HP:0003002	Breast carcinoma	324	APC	OMIM:135290
HP:0003002	Breast carcinoma	4210	MEFV	ORPHA:3243
HP:0003002	Breast carcinoma	5426	POLE	ORPHA:447877
HP:0003002	Breast carcinoma	5424	POLD1	ORPHA:447877
HP:0003002	Breast carcinoma	7486	WRN	ORPHA:902
HP:0003002	Breast carcinoma	7373	COL14A1	ORPHA:79501
HP:0003002	Breast carcinoma	79719	AAGAB	ORPHA:79501
HP:0003002	Breast carcinoma	1029	CDKN2A	ORPHA:524
HP:0003002	Breast carcinoma	1029	CDKN2A	ORPHA:1333
HP:0003002	Breast carcinoma	4193	MDM2	ORPHA:524
HP:0003002	Breast carcinoma	5892	RAD51D	ORPHA:145
HP:0003002	Breast carcinoma	5728	PTEN	ORPHA:145
HP:0003002	Breast carcinoma	5728	PTEN	ORPHA:201
HP:0003002	Breast carcinoma	5728	PTEN	OMIM:158350
HP:0003002	Breast carcinoma	10111	RAD50	ORPHA:145
HP:0003002	Breast carcinoma	4683	NBN	ORPHA:145
HP:0003002	Breast carcinoma	4361	MRE11	ORPHA:145
HP:0003002	Breast carcinoma	2778	GNAS	ORPHA:562
HP:0003002	Breast carcinoma	2956	MSH6	ORPHA:587
HP:0003002	Breast carcinoma	10483	SEC23B	ORPHA:201
HP:0003002	Breast carcinoma	10483	SEC23B	OMIM:616858
HP:0003002	Breast carcinoma	6390	SDHB	ORPHA:201
HP:0003002	Breast carcinoma	6392	SDHD	ORPHA:201
HP:0003002	Breast carcinoma	6391	SDHC	ORPHA:201
HP:0003002	Breast carcinoma	205717	USF3	ORPHA:201
HP:0003002	Breast carcinoma	100144748	KLLN	ORPHA:201
HP:0003002	Breast carcinoma	100144748	KLLN	OMIM:615107
HP:0003002	Breast carcinoma	285282	RABL3	ORPHA:1333
HP:0003002	Breast carcinoma	4089	SMAD4	ORPHA:1333
HP:0003002	Breast carcinoma	23022	PALLD	ORPHA:1333
HP:0003002	Breast carcinoma	7291	TWIST1	OMIM:101400
HP:0003002	Breast carcinoma	2263	FGFR2	OMIM:101400
HP:0003002	Breast carcinoma	3418	IDH2	ORPHA:163634
HP:0003002	Breast carcinoma	3417	IDH1	ORPHA:163634
HP:0003002	Breast carcinoma	4763	NF1	ORPHA:97685
HP:0003001	Glomus jugular tumor	54949	SDHAF2	OMIM:601650
HP:0003001	Glomus jugular tumor	6392	SDHD	OMIM:168000
HP:0003001	Glomus jugular tumor	4763	NF1	ORPHA:97685
HP:0003001	Glomus jugular tumor	6390	SDHB	OMIM:115310
HP:0003001	Glomus jugular tumor	6391	SDHC	OMIM:605373
HP:0033660	Hand paresthesia	9517	SPTLC2	OMIM:613640
HP:0033660	Hand paresthesia	5376	PMP22	OMIM:162500
HP:0033660	Hand paresthesia	1311	COMP	OMIM:619161
HP:0033662	Air bronchogram	1536	CYBB	OMIM:306400
HP:0033665	Diminished health-related quality of life	3081	HGD	OMIM:203500
HP:0033666	Diminished physical functioning	3081	HGD	OMIM:203500
HP:0033668	Abnormal amygdala morphology	1182	CLCN3	OMIM:619517
HP:0003013	Bulging epiphyses	7421	VDR	OMIM:277440
HP:0003013	Bulging epiphyses	120227	CYP2R1	OMIM:600081
HP:0003013	Bulging epiphyses	1594	CYP27B1	OMIM:264700
HP:0003013	Bulging epiphyses	1184	CLCN5	OMIM:300554
HP:0003013	Bulging epiphyses	1184	CLCN5	OMIM:300009
HP:0003013	Bulging epiphyses	142680	SLC34A3	OMIM:241530
HP:0033670	Organizing pneumonia	567	B2M	OMIM:241600
HP:0033672	Positive carpal Tinel sign	1311	COMP	OMIM:619161
HP:0033673	Positive Phalen test	1311	COMP	OMIM:619161
HP:0033677	Acute respiratory distress syndrome	5557	PRIM1	OMIM:620005
HP:0033677	Acute respiratory distress syndrome	11274	USP18	OMIM:617397
HP:0033678	Acute coronary syndrome	3717	JAK2	OMIM:133100
HP:0033678	Acute coronary syndrome	3717	JAK2	ORPHA:3318
HP:0033678	Acute coronary syndrome	10019	SH2B3	OMIM:133100
HP:0033678	Acute coronary syndrome	10019	SH2B3	ORPHA:3318
HP:0033678	Acute coronary syndrome	2057	EPOR	OMIM:133100
HP:0033678	Acute coronary syndrome	63036	CELA2A	OMIM:618620
HP:0033678	Acute coronary syndrome	6340	SCNN1G	ORPHA:60033
HP:0033678	Acute coronary syndrome	1080	CFTR	ORPHA:60033
HP:0033678	Acute coronary syndrome	6337	SCNN1A	ORPHA:60033
HP:0033678	Acute coronary syndrome	6338	SCNN1B	ORPHA:60033
HP:0033678	Acute coronary syndrome	19	ABCA1	OMIM:604091
HP:0033678	Acute coronary syndrome	19	ABCA1	OMIM:205400
HP:0033678	Acute coronary syndrome	1593	CYP27A1	OMIM:213700
HP:0033678	Acute coronary syndrome	6804	STX1A	ORPHA:904
HP:0033678	Acute coronary syndrome	7461	CLIP2	ORPHA:904
HP:0033678	Acute coronary syndrome	84277	DNAJC30	ORPHA:904
HP:0033678	Acute coronary syndrome	8468	FKBP6	ORPHA:904
HP:0033678	Acute coronary syndrome	5982	RFC2	ORPHA:904
HP:0033678	Acute coronary syndrome	2969	GTF2I	ORPHA:904
HP:0033678	Acute coronary syndrome	3984	LIMK1	ORPHA:904
HP:0033678	Acute coronary syndrome	9569	GTF2IRD1	ORPHA:904
HP:0033678	Acute coronary syndrome	155382	VPS37D	ORPHA:904
HP:0033678	Acute coronary syndrome	155368	METTL27	ORPHA:904
HP:0033678	Acute coronary syndrome	114049	BUD23	ORPHA:904
HP:0033678	Acute coronary syndrome	7458	EIF4H	ORPHA:904
HP:0033678	Acute coronary syndrome	84163	GTF2IRD2	ORPHA:904
HP:0033678	Acute coronary syndrome	9275	BCL7B	ORPHA:904
HP:0033678	Acute coronary syndrome	26608	TBL2	ORPHA:904
HP:0033678	Acute coronary syndrome	653361	NCF1	ORPHA:904
HP:0033678	Acute coronary syndrome	135886	TMEM270	ORPHA:904
HP:0033678	Acute coronary syndrome	51085	MLXIPL	ORPHA:904
HP:0033678	Acute coronary syndrome	9031	BAZ1B	ORPHA:904
HP:0033678	Acute coronary syndrome	2006	ELN	ORPHA:904
HP:0033678	Acute coronary syndrome	81031	SLC2A10	ORPHA:3342
HP:0033678	Acute coronary syndrome	4000	LMNA	OMIM:176670
HP:0033678	Acute coronary syndrome	4000	LMNA	ORPHA:740
HP:0033678	Acute coronary syndrome	7486	WRN	ORPHA:902
HP:0033678	Acute coronary syndrome	5781	PTPN11	ORPHA:500
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:500
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:96253
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:54595
HP:0033678	Acute coronary syndrome	5894	RAF1	ORPHA:500
HP:0033678	Acute coronary syndrome	4040	LRP6	OMIM:610947
HP:0033678	Acute coronary syndrome	4210	MEFV	ORPHA:342
HP:0033678	Acute coronary syndrome	4210	MEFV	ORPHA:117
HP:0033678	Acute coronary syndrome	10269	ZMPSTE24	ORPHA:740
HP:0033678	Acute coronary syndrome	368	ABCC6	OMIM:614473
HP:0033678	Acute coronary syndrome	11093	ADAMTS13	OMIM:274150
HP:0033678	Acute coronary syndrome	3662	IRF4	ORPHA:3452
HP:0033678	Acute coronary syndrome	4205	MEF2A	OMIM:608320
HP:0033678	Acute coronary syndrome	3949	LDLR	ORPHA:391665
HP:0033678	Acute coronary syndrome	255738	PCSK9	ORPHA:391665
HP:0033678	Acute coronary syndrome	26119	LDLRAP1	ORPHA:391665
HP:0033678	Acute coronary syndrome	338	APOB	ORPHA:391665
HP:0033678	Acute coronary syndrome	64240	ABCG5	ORPHA:391665
HP:0033678	Acute coronary syndrome	64241	ABCG8	ORPHA:391665
HP:0033678	Acute coronary syndrome	7428	VHL	ORPHA:892
HP:0033678	Acute coronary syndrome	595	CCND1	ORPHA:892
HP:0033678	Acute coronary syndrome	84196	USP48	ORPHA:96253
HP:0033678	Acute coronary syndrome	7157	TP53	ORPHA:96253
HP:0033678	Acute coronary syndrome	7157	TP53	ORPHA:3318
HP:0033678	Acute coronary syndrome	9101	USP8	ORPHA:96253
HP:0033678	Acute coronary syndrome	64072	CDH23	ORPHA:96253
HP:0033678	Acute coronary syndrome	2908	NR3C1	ORPHA:96253
HP:0033678	Acute coronary syndrome	546	ATRX	ORPHA:96253
HP:0033678	Acute coronary syndrome	590	BCHE	ORPHA:132
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:36426
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:3287
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:117
HP:0033678	Acute coronary syndrome	10320	IKZF1	ORPHA:36426
HP:0033678	Acute coronary syndrome	2717	GLA	OMIM:301500
HP:0033678	Acute coronary syndrome	9149	DYRK1B	OMIM:615812
HP:0033678	Acute coronary syndrome	875	CBS	OMIM:236200
HP:0033678	Acute coronary syndrome	3593	IL12B	ORPHA:3287
HP:0033678	Acute coronary syndrome	6945	MLX	ORPHA:3287
HP:0033678	Acute coronary syndrome	5277	PIGA	ORPHA:447
HP:0033678	Acute coronary syndrome	3081	HGD	ORPHA:56
HP:0033678	Acute coronary syndrome	4627	MYH9	OMIM:155100
HP:0033678	Acute coronary syndrome	4627	MYH9	ORPHA:182050
HP:0033678	Acute coronary syndrome	5167	ENPP1	OMIM:208000
HP:0033678	Acute coronary syndrome	811	CALR	ORPHA:3318
HP:0033678	Acute coronary syndrome	4352	MPL	ORPHA:3318
HP:0033678	Acute coronary syndrome	54790	TET2	ORPHA:3318
HP:0033678	Acute coronary syndrome	84984	CEP19	OMIM:615703
HP:0033678	Acute coronary syndrome	57187	THOC2	ORPHA:457240
HP:0033678	Acute coronary syndrome	4023	LPL	OMIM:144250
HP:0033678	Acute coronary syndrome	149233	IL23R	ORPHA:117
HP:0033678	Acute coronary syndrome	6775	STAT4	ORPHA:117
HP:0033678	Acute coronary syndrome	3586	IL10	ORPHA:117
HP:0033678	Acute coronary syndrome	1230	CCR1	ORPHA:117
HP:0033678	Acute coronary syndrome	355	FAS	ORPHA:117
HP:0033678	Acute coronary syndrome	3592	IL12A	ORPHA:117
HP:0033678	Acute coronary syndrome	101928376	IL12A-AS1	ORPHA:117
HP:0033678	Acute coronary syndrome	7099	TLR4	ORPHA:117
HP:0033678	Acute coronary syndrome	3459	IFNGR1	ORPHA:117
HP:0033678	Acute coronary syndrome	720	C4A	ORPHA:117
HP:0033678	Acute coronary syndrome	337867	UBAC2	ORPHA:117
HP:0033678	Acute coronary syndrome	51752	ERAP1	ORPHA:117
HP:0033678	Acute coronary syndrome	8302	KLRC4	ORPHA:117
HP:0033678	Acute coronary syndrome	1499	CTNNB1	ORPHA:54595
HP:0003027	Mesomelia	2261	FGFR3	OMIM:616482
HP:0003027	Mesomelia	4750	NEK1	OMIM:263520
HP:0003027	Mesomelia	57539	WDR35	OMIM:613610
HP:0003027	Mesomelia	57539	WDR35	OMIM:614091
HP:0003027	Mesomelia	5593	PRKG2	OMIM:619636
HP:0003027	Mesomelia	4796	TONSL	ORPHA:93357
HP:0003027	Mesomelia	4796	TONSL	OMIM:271510
HP:0003027	Mesomelia	6473	SHOX	OMIM:127300
HP:0003027	Mesomelia	6473	SHOX	OMIM:249700
HP:0003027	Mesomelia	6473	SHOX	ORPHA:240
HP:0003027	Mesomelia	9321	TRIP11	OMIM:184260
HP:0003027	Mesomelia	1857	DVL3	OMIM:616894
HP:0003027	Mesomelia	1855	DVL1	OMIM:616331
HP:0003027	Mesomelia	1855	DVL1	OMIM:180700
HP:0003027	Mesomelia	176	ACAN	ORPHA:171866
HP:0003027	Mesomelia	176	ACAN	OMIM:612813
HP:0003027	Mesomelia	1717	DHCR7	ORPHA:818
HP:0003027	Mesomelia	3930	LBR	OMIM:215140
HP:0003027	Mesomelia	4920	ROR2	OMIM:268310
HP:0003027	Mesomelia	4920	ROR2	ORPHA:1507
HP:0003027	Mesomelia	23387	SIK3	OMIM:618162
HP:0003027	Mesomelia	6023	RMRP	ORPHA:175
HP:0003027	Mesomelia	3899	AFF3	OMIM:619297
HP:0003027	Mesomelia	64359	NXN	OMIM:618529
HP:0003027	Mesomelia	64359	NXN	ORPHA:1507
HP:0003027	Mesomelia	90993	CREB3L1	OMIM:616229
HP:0003027	Mesomelia	7474	WNT5A	OMIM:180700
HP:0003027	Mesomelia	1513	CTSK	ORPHA:763
HP:0003027	Mesomelia	6913	TBX15	OMIM:260660
HP:0003027	Mesomelia	5745	PTH1R	ORPHA:50945
HP:0003027	Mesomelia	57560	IFT80	OMIM:611263
HP:0003027	Mesomelia	10082	GPC6	ORPHA:93329
HP:0003027	Mesomelia	29980	DONSON	OMIM:617604
HP:0003027	Mesomelia	2737	GLI3	OMIM:146510
HP:0003027	Mesomelia	8200	GDF5	OMIM:200700
HP:0003027	Mesomelia	8200	GDF5	OMIM:201250
HP:0003027	Mesomelia	8200	GDF5	ORPHA:968
HP:0003027	Mesomelia	4882	NPR2	OMIM:602875
HP:0003027	Mesomelia	4882	NPR2	ORPHA:40
HP:0003027	Mesomelia	56992	KIF15	ORPHA:261323
HP:0003027	Mesomelia	5879	RAC1	ORPHA:500159
HP:0003027	Mesomelia	55768	NGLY1	ORPHA:404454
HP:0003027	Mesomelia	2316	FLNA	OMIM:300244
HP:0003027	Mesomelia	9775	EIF4A3	OMIM:268305
HP:0003027	Mesomelia	157570	ESCO2	ORPHA:3103
HP:0003028	Abnormality of the ankle	6775	STAT4	ORPHA:85408
HP:0003028	Abnormality of the ankle	3560	IL2RB	ORPHA:85408
HP:0003028	Abnormality of the ankle	79722	ANKRD55	ORPHA:85408
HP:0003028	Abnormality of the ankle	26191	PTPN22	ORPHA:85408
HP:0003028	Abnormality of the ankle	919	CD247	ORPHA:85408
HP:0003028	Abnormality of the ankle	3559	IL2RA	ORPHA:85408
HP:0003028	Abnormality of the ankle	5771	PTPN2	ORPHA:85408
HP:0003028	Abnormality of the ankle	9935	MAFB	OMIM:166300
HP:0003028	Abnormality of the ankle	2324	FLT4	ORPHA:79452
HP:0003028	Abnormality of the ankle	57165	GJC2	ORPHA:79452
HP:0003028	Abnormality of the ankle	65125	WNK1	ORPHA:970
HP:0003028	Abnormality of the ankle	54463	RETREG1	ORPHA:970
HP:0003028	Abnormality of the ankle	4914	NTRK1	ORPHA:642
HP:0003028	Abnormality of the ankle	5718	PSMD12	ORPHA:529962
HP:0003028	Abnormality of the ankle	2186	BPTF	ORPHA:529962
HP:0003028	Abnormality of the ankle	9241	NOG	ORPHA:1412
HP:0003028	Abnormality of the ankle	6804	STX1A	ORPHA:904
HP:0003028	Abnormality of the ankle	7461	CLIP2	ORPHA:904
HP:0003028	Abnormality of the ankle	84277	DNAJC30	ORPHA:904
HP:0003028	Abnormality of the ankle	8468	FKBP6	ORPHA:904
HP:0003028	Abnormality of the ankle	5982	RFC2	ORPHA:904
HP:0003028	Abnormality of the ankle	2969	GTF2I	ORPHA:904
HP:0003028	Abnormality of the ankle	3984	LIMK1	ORPHA:904
HP:0003028	Abnormality of the ankle	9569	GTF2IRD1	ORPHA:904
HP:0003028	Abnormality of the ankle	155382	VPS37D	ORPHA:904
HP:0003028	Abnormality of the ankle	155368	METTL27	ORPHA:904
HP:0003028	Abnormality of the ankle	114049	BUD23	ORPHA:904
HP:0003028	Abnormality of the ankle	7458	EIF4H	ORPHA:904
HP:0003028	Abnormality of the ankle	84163	GTF2IRD2	ORPHA:904
HP:0003028	Abnormality of the ankle	9275	BCL7B	ORPHA:904
HP:0003028	Abnormality of the ankle	26608	TBL2	ORPHA:904
HP:0003028	Abnormality of the ankle	653361	NCF1	ORPHA:904
HP:0003028	Abnormality of the ankle	135886	TMEM270	ORPHA:904
HP:0003028	Abnormality of the ankle	51085	MLXIPL	ORPHA:904
HP:0003028	Abnormality of the ankle	9031	BAZ1B	ORPHA:904
HP:0003028	Abnormality of the ankle	2006	ELN	ORPHA:904
HP:0003028	Abnormality of the ankle	8200	GDF5	ORPHA:968
HP:0003028	Abnormality of the ankle	54808	DYM	ORPHA:239
HP:0003028	Abnormality of the ankle	1297	COL9A1	ORPHA:166002
HP:0003028	Abnormality of the ankle	1298	COL9A2	ORPHA:166002
HP:0003028	Abnormality of the ankle	1299	COL9A3	ORPHA:166002
HP:0003028	Abnormality of the ankle	7421	VDR	OMIM:277440
HP:0003028	Abnormality of the ankle	120227	CYP2R1	OMIM:600081
HP:0003028	Abnormality of the ankle	120227	CYP2R1	ORPHA:289157
HP:0003028	Abnormality of the ankle	1594	CYP27B1	OMIM:264700
HP:0003028	Abnormality of the ankle	1594	CYP27B1	ORPHA:289157
HP:0003028	Abnormality of the ankle	1184	CLCN5	OMIM:300554
HP:0003028	Abnormality of the ankle	1184	CLCN5	OMIM:300009
HP:0003028	Abnormality of the ankle	142680	SLC34A3	OMIM:241530
HP:0003028	Abnormality of the ankle	3417	IDH1	ORPHA:99646
HP:0003028	Abnormality of the ankle	2131	EXT1	ORPHA:321
HP:0003028	Abnormality of the ankle	2132	EXT2	ORPHA:321
HP:0003028	Abnormality of the ankle	5119	CHMP1A	OMIM:614961
HP:0003028	Abnormality of the ankle	3187	HNRNPH1	OMIM:620083
HP:0003028	Abnormality of the ankle	4125	MAN2B1	ORPHA:309282
HP:0003028	Abnormality of the ankle	4841	NONO	ORPHA:466791
HP:0003028	Abnormality of the ankle	1788	DNMT3A	OMIM:615879
HP:0003028	Abnormality of the ankle	25782	RAB3GAP2	OMIM:212720
HP:0003028	Abnormality of the ankle	3977	LIFR	OMIM:601559
HP:0003028	Abnormality of the ankle	6335	SCN9A	ORPHA:36387
HP:0003028	Abnormality of the ankle	112755	STX1B	ORPHA:36387
HP:0003028	Abnormality of the ankle	2563	GABRD	ORPHA:36387
HP:0003028	Abnormality of the ankle	6326	SCN2A	ORPHA:36387
HP:0003028	Abnormality of the ankle	6323	SCN1A	ORPHA:36387
HP:0003028	Abnormality of the ankle	6324	SCN1B	ORPHA:36387
HP:0003028	Abnormality of the ankle	348980	HCN1	ORPHA:36387
HP:0003028	Abnormality of the ankle	84059	ADGRV1	ORPHA:36387
HP:0003028	Abnormality of the ankle	2566	GABRG2	ORPHA:36387
HP:0003028	Abnormality of the ankle	833	CARS1	OMIM:618891
HP:0003028	Abnormality of the ankle	1300	COL10A1	OMIM:156500
HP:0003028	Abnormality of the ankle	1311	COMP	ORPHA:750
HP:0003028	Abnormality of the ankle	29920	PYCR2	ORPHA:481152
HP:0003028	Abnormality of the ankle	1291	COL6A1	OMIM:254090
HP:0003028	Abnormality of the ankle	1292	COL6A2	OMIM:254090
HP:0003028	Abnormality of the ankle	1293	COL6A3	OMIM:254090
HP:0003028	Abnormality of the ankle	9927	MFN2	ORPHA:99947
HP:0003028	Abnormality of the ankle	2737	GLI3	ORPHA:93322
HP:0003028	Abnormality of the ankle	25914	RTTN	ORPHA:468631
HP:0003028	Abnormality of the ankle	1859	DYRK1A	ORPHA:464311
HP:0003028	Abnormality of the ankle	64324	NSD1	ORPHA:821
HP:0003028	Abnormality of the ankle	29072	SETD2	ORPHA:821
HP:0003028	Abnormality of the ankle	10297	APC2	ORPHA:821
HP:0003028	Abnormality of the ankle	1605	DAG1	OMIM:613818
HP:0003028	Abnormality of the ankle	1605	DAG1	ORPHA:280333
HP:0003028	Abnormality of the ankle	6442	SGCA	OMIM:608099
HP:0003028	Abnormality of the ankle	6840	SVIL	OMIM:619040
HP:0003028	Abnormality of the ankle	1303	COL12A1	ORPHA:536516
HP:0003028	Abnormality of the ankle	1303	COL12A1	ORPHA:610
HP:0003028	Abnormality of the ankle	825	CAPN3	ORPHA:267
HP:0003028	Abnormality of the ankle	6134	RPL10	ORPHA:435938
HP:0003028	Abnormality of the ankle	22978	NT5C2	ORPHA:320396
HP:0003028	Abnormality of the ankle	55958	KLHL9	ORPHA:399081
HP:0003028	Abnormality of the ankle	6261	RYR1	OMIM:117000
HP:0003028	Abnormality of the ankle	83636	C19orf12	OMIM:615043
HP:0003028	Abnormality of the ankle	84876	ORAI1	OMIM:615883
HP:0003028	Abnormality of the ankle	163175	LGI4	OMIM:617468
HP:0003028	Abnormality of the ankle	60681	FKBP10	OMIM:259450
HP:0003028	Abnormality of the ankle	4773	NFATC2	OMIM:620232
HP:0003028	Abnormality of the ankle	87178	PNPT1	ORPHA:319514
HP:0003028	Abnormality of the ankle	26092	TOR1AIP1	OMIM:617072
HP:0003028	Abnormality of the ankle	8813	DPM1	OMIM:608799
HP:0003028	Abnormality of the ankle	210	ALAD	ORPHA:100924
HP:0003028	Abnormality of the ankle	513	ATP5F1D	OMIM:618120
HP:0003028	Abnormality of the ankle	7317	UBA1	ORPHA:1145
HP:0003028	Abnormality of the ankle	55681	SCYL2	ORPHA:1143
HP:0003028	Abnormality of the ankle	84570	COL25A1	ORPHA:1143
HP:0003028	Abnormality of the ankle	57222	ERGIC1	ORPHA:1143
HP:0003028	Abnormality of the ankle	57731	SPTBN4	OMIM:617519
HP:0003028	Abnormality of the ankle	4313	MMP2	OMIM:259600
HP:0003028	Abnormality of the ankle	157570	ESCO2	OMIM:268300
HP:0003028	Abnormality of the ankle	29968	PSAT1	ORPHA:284417
HP:0003028	Abnormality of the ankle	57190	SELENON	ORPHA:2020
HP:0003028	Abnormality of the ankle	58	ACTA1	ORPHA:2020
HP:0003028	Abnormality of the ankle	4633	MYL2	ORPHA:2020
HP:0003028	Abnormality of the ankle	3679	ITGA7	ORPHA:2020
HP:0003028	Abnormality of the ankle	7169	TPM2	ORPHA:2020
HP:0003028	Abnormality of the ankle	9200	HACD1	ORPHA:2020
HP:0003028	Abnormality of the ankle	7170	TPM3	ORPHA:2020
HP:0003028	Abnormality of the ankle	51776	MAP3K20	ORPHA:2020
HP:0003028	Abnormality of the ankle	51776	MAP3K20	OMIM:617760
HP:0003028	Abnormality of the ankle	497661	C18orf32	OMIM:619985
HP:0003028	Abnormality of the ankle	127833	SYT2	OMIM:619461
HP:0003028	Abnormality of the ankle	4921	DDR2	OMIM:618175
HP:0003028	Abnormality of the ankle	4703	NEB	ORPHA:399103
HP:0003028	Abnormality of the ankle	7407	VARS1	OMIM:617802
HP:0003028	Abnormality of the ankle	9896	FIG4	OMIM:611228
HP:0003028	Abnormality of the ankle	203859	ANO5	ORPHA:206549
HP:0003028	Abnormality of the ankle	7337	UBE3A	ORPHA:98794
HP:0003028	Abnormality of the ankle	4948	OCA2	ORPHA:98794
HP:0003028	Abnormality of the ankle	4000	LMNA	ORPHA:740
HP:0003028	Abnormality of the ankle	10269	ZMPSTE24	ORPHA:740
HP:0003028	Abnormality of the ankle	2316	FLNA	ORPHA:1826
HP:0003028	Abnormality of the ankle	6885	MAP3K7	ORPHA:1826
HP:0003028	Abnormality of the ankle	4625	MYH7	ORPHA:437572
HP:0003028	Abnormality of the ankle	123606	NIPA1	ORPHA:100988
HP:0003028	Abnormality of the ankle	11160	ERLIN2	ORPHA:280384
HP:0003028	Abnormality of the ankle	11160	ERLIN2	ORPHA:209951
HP:0003028	Abnormality of the ankle	11160	ERLIN2	OMIM:611225
HP:0003028	Abnormality of the ankle	85465	SELENOI	ORPHA:506353
HP:0003028	Abnormality of the ankle	85465	SELENOI	OMIM:618768
HP:0003028	Abnormality of the ankle	51062	ATL1	ORPHA:100984
HP:0003028	Abnormality of the ankle	23111	SPART	OMIM:275900
HP:0003028	Abnormality of the ankle	23111	SPART	ORPHA:101000
HP:0003028	Abnormality of the ankle	4728	NDUFS8	OMIM:618222
HP:0003028	Abnormality of the ankle	55697	VAC14	OMIM:617054
HP:0003028	Abnormality of the ankle	56006	SMG9	OMIM:619995
HP:0003028	Abnormality of the ankle	10159	ATP6AP2	ORPHA:363654
HP:0003028	Abnormality of the ankle	6683	SPAST	ORPHA:100985
HP:0003028	Abnormality of the ankle	51604	PIGT	OMIM:615398
HP:0003028	Abnormality of the ankle	9420	CYP7B1	ORPHA:100986
HP:0003028	Abnormality of the ankle	23516	SLC39A14	OMIM:617013
HP:0003028	Abnormality of the ankle	23516	SLC39A14	ORPHA:521406
HP:0003028	Abnormality of the ankle	23345	SYNE1	ORPHA:88644
HP:0003028	Abnormality of the ankle	22931	RAB18	OMIM:614222
HP:0003028	Abnormality of the ankle	1593	CYP27A1	OMIM:213700
HP:0003028	Abnormality of the ankle	3839	KPNA3	OMIM:620106
HP:0003028	Abnormality of the ankle	959	CD40LG	OMIM:308230
HP:0003028	Abnormality of the ankle	64837	KLC2	OMIM:609541
HP:0003028	Abnormality of the ankle	2258	FGF13	OMIM:301058
HP:0003028	Abnormality of the ankle	440193	CCDC88C	OMIM:616053
HP:0003028	Abnormality of the ankle	6647	SOD1	OMIM:618598
HP:0003028	Abnormality of the ankle	6253	RTN2	OMIM:604805
HP:0003028	Abnormality of the ankle	84340	GFM2	OMIM:618397
HP:0003028	Abnormality of the ankle	84340	GFM2	ORPHA:565624
HP:0003028	Abnormality of the ankle	79152	FA2H	ORPHA:171629
HP:0003028	Abnormality of the ankle	79152	FA2H	OMIM:612319
HP:0003028	Abnormality of the ankle	10273	STUB1	OMIM:615768
HP:0003028	Abnormality of the ankle	10273	STUB1	ORPHA:412057
HP:0003028	Abnormality of the ankle	9409	PEX16	OMIM:614877
HP:0003028	Abnormality of the ankle	6509	SLC1A4	OMIM:616657
HP:0003028	Abnormality of the ankle	547	KIF1A	OMIM:610357
HP:0003028	Abnormality of the ankle	9338	TCEAL1	OMIM:301094
HP:0003028	Abnormality of the ankle	80208	SPG11	OMIM:604360
HP:0003028	Abnormality of the ankle	5456	POU3F4	ORPHA:1435
HP:0003028	Abnormality of the ankle	55129	ANO10	ORPHA:284289
HP:0003028	Abnormality of the ankle	16	AARS1	OMIM:619691
HP:0003028	Abnormality of the ankle	219285	SAMD9L	OMIM:159550
HP:0003028	Abnormality of the ankle	9289	ADGRG1	OMIM:606854
HP:0003028	Abnormality of the ankle	7345	UCHL1	OMIM:615491
HP:0003028	Abnormality of the ankle	215	ABCD1	ORPHA:139396
HP:0003028	Abnormality of the ankle	3064	HTT	OMIM:617435
HP:0003028	Abnormality of the ankle	118813	ZFYVE27	OMIM:610244
HP:0003028	Abnormality of the ankle	7415	VCP	OMIM:613954
HP:0003028	Abnormality of the ankle	57704	GBA2	OMIM:614409
HP:0003028	Abnormality of the ankle	2581	GALC	ORPHA:206436
HP:0003028	Abnormality of the ankle	5660	PSAP	ORPHA:206436
HP:0003028	Abnormality of the ankle	1678	TIMM8A	ORPHA:52368
HP:0003028	Abnormality of the ankle	6567	SLC16A2	ORPHA:59
HP:0003028	Abnormality of the ankle	6712	SPTBN2	OMIM:600224
HP:0003028	Abnormality of the ankle	3798	KIF5A	ORPHA:100991
HP:0003028	Abnormality of the ankle	3798	KIF5A	OMIM:604187
HP:0003028	Abnormality of the ankle	823	CAPN1	ORPHA:488594
HP:0003028	Abnormality of the ankle	5297	PI4KA	OMIM:619621
HP:0003028	Abnormality of the ankle	65055	REEP1	OMIM:610250
HP:0003028	Abnormality of the ankle	10749	KIF1C	OMIM:611302
HP:0003028	Abnormality of the ankle	8398	PLA2G6	OMIM:612953
HP:0003028	Abnormality of the ankle	113278	SLC52A3	OMIM:211530
HP:0003029	Enlargement of the ankles	7421	VDR	OMIM:277440
HP:0003029	Enlargement of the ankles	120227	CYP2R1	OMIM:600081
HP:0003029	Enlargement of the ankles	120227	CYP2R1	ORPHA:289157
HP:0003029	Enlargement of the ankles	1594	CYP27B1	OMIM:264700
HP:0003029	Enlargement of the ankles	1594	CYP27B1	ORPHA:289157
HP:0003029	Enlargement of the ankles	1184	CLCN5	OMIM:300554
HP:0003029	Enlargement of the ankles	1184	CLCN5	OMIM:300009
HP:0003029	Enlargement of the ankles	4625	MYH7	ORPHA:437572
HP:0003029	Enlargement of the ankles	142680	SLC34A3	OMIM:241530
HP:0003029	Enlargement of the ankles	3417	IDH1	ORPHA:99646
HP:0003023	Bowing of limbs due to multiple fractures	1277	COL1A1	OMIM:166220
HP:0003023	Bowing of limbs due to multiple fractures	1277	COL1A1	OMIM:259420
HP:0003023	Bowing of limbs due to multiple fractures	1278	COL1A2	OMIM:166220
HP:0003023	Bowing of limbs due to multiple fractures	1278	COL1A2	OMIM:259420
HP:0003023	Bowing of limbs due to multiple fractures	5479	PPIB	OMIM:259440
HP:0003023	Bowing of limbs due to multiple fractures	7471	WNT1	OMIM:615220
HP:0003020	Enlargement of the wrists	7421	VDR	OMIM:277440
HP:0003020	Enlargement of the wrists	9131	AIFM1	ORPHA:83629
HP:0003020	Enlargement of the wrists	120227	CYP2R1	OMIM:600081
HP:0003020	Enlargement of the wrists	120227	CYP2R1	ORPHA:289157
HP:0003020	Enlargement of the wrists	1594	CYP27B1	OMIM:264700
HP:0003020	Enlargement of the wrists	1594	CYP27B1	ORPHA:289157
HP:0003020	Enlargement of the wrists	1184	CLCN5	OMIM:300554
HP:0003020	Enlargement of the wrists	1184	CLCN5	OMIM:300009
HP:0003020	Enlargement of the wrists	1758	DMP1	ORPHA:289176
HP:0003020	Enlargement of the wrists	5167	ENPP1	ORPHA:289176
HP:0003020	Enlargement of the wrists	142680	SLC34A3	OMIM:241530
HP:0003021	Metaphyseal cupping	3930	LBR	OMIM:215140
HP:0003021	Metaphyseal cupping	3930	LBR	OMIM:618019
HP:0003021	Metaphyseal cupping	1576	CYP3A4	OMIM:619073
HP:0003021	Metaphyseal cupping	4322	MMP13	OMIM:602111
HP:0003021	Metaphyseal cupping	3636	INPPL1	OMIM:258480
HP:0003021	Metaphyseal cupping	9321	TRIP11	OMIM:184260
HP:0003021	Metaphyseal cupping	5745	PTH1R	OMIM:156400
HP:0003021	Metaphyseal cupping	5745	PTH1R	ORPHA:50945
HP:0003021	Metaphyseal cupping	249	ALPL	OMIM:241500
HP:0003021	Metaphyseal cupping	1280	COL2A1	OMIM:151210
HP:0003021	Metaphyseal cupping	1280	COL2A1	ORPHA:85166
HP:0003021	Metaphyseal cupping	51025	PAM16	OMIM:613320
HP:0003021	Metaphyseal cupping	6023	RMRP	OMIM:250250
HP:0003021	Metaphyseal cupping	25871	NEPRO	OMIM:618853
HP:0003021	Metaphyseal cupping	1302	COL11A2	OMIM:614524
HP:0003021	Metaphyseal cupping	5130	PCYT1A	OMIM:608940
HP:0003021	Metaphyseal cupping	5830	PEX5	OMIM:616716
HP:0003021	Metaphyseal cupping	2879	GPX4	OMIM:250220
HP:0003021	Metaphyseal cupping	3417	IDH1	ORPHA:99646
HP:0003021	Metaphyseal cupping	9131	AIFM1	OMIM:300232
HP:0003021	Metaphyseal cupping	1300	COL10A1	ORPHA:174
HP:0003021	Metaphyseal cupping	1300	COL10A1	OMIM:156500
HP:0003021	Metaphyseal cupping	10013	HDAC6	OMIM:300863
HP:0033681	Oligodendroglioma	4292	MLH1	OMIM:276300
HP:0033682	Pleomorphic xanthoastrocytoma	4292	MLH1	OMIM:276300
HP:0033683	Jaw hyperreflexia	51324	SPG21	OMIM:248900
HP:0033683	Jaw hyperreflexia	2643	GCH1	OMIM:128230
HP:0033683	Jaw hyperreflexia	4897	NRCAM	OMIM:619833
HP:0033683	Jaw hyperreflexia	9179	AP4M1	OMIM:612936
HP:0033684	Abnormal muscle fiber-type distribution	274	BIN1	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	274	BIN1	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	10290	SPEG	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:597
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:178145
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	OMIM:117000
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:98905
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:424107
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	OMIM:619542
HP:0033684	Abnormal muscle fiber-type distribution	7273	TTN	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	7273	TTN	ORPHA:178464
HP:0033684	Abnormal muscle fiber-type distribution	1291	COL6A1	OMIM:254090
HP:0033684	Abnormal muscle fiber-type distribution	1292	COL6A2	OMIM:254090
HP:0033684	Abnormal muscle fiber-type distribution	1293	COL6A3	OMIM:254090
HP:0033684	Abnormal muscle fiber-type distribution	84665	MYPN	OMIM:617336
HP:0033684	Abnormal muscle fiber-type distribution	84665	MYPN	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	6606	SMN1	OMIM:271150
HP:0033684	Abnormal muscle fiber-type distribution	8087	FXR1	OMIM:618823
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	OMIM:256030
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	OMIM:161800
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	64419	MTMR14	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	64419	MTMR14	OMIM:160150
HP:0033684	Abnormal muscle fiber-type distribution	4618	MYF6	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	1785	DNM2	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	1785	DNM2	OMIM:160150
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	ORPHA:59135
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:160500
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:255160
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:608358
HP:0033684	Abnormal muscle fiber-type distribution	2617	GARS1	OMIM:619042
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	OMIM:609285
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	56203	LMOD3	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	56203	LMOD3	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	1073	CFL2	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	7170	TPM3	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	7170	TPM3	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	10585	POMT1	ORPHA:86812
HP:0033684	Abnormal muscle fiber-type distribution	131377	KLHL40	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	23287	AGTPBP1	OMIM:618276
HP:0033684	Abnormal muscle fiber-type distribution	8292	COLQ	ORPHA:98915
HP:0033684	Abnormal muscle fiber-type distribution	8292	COLQ	OMIM:603034
HP:0033684	Abnormal muscle fiber-type distribution	3913	LAMB2	ORPHA:98915
HP:0033684	Abnormal muscle fiber-type distribution	55033	FKBP14	OMIM:614557
HP:0033684	Abnormal muscle fiber-type distribution	2992	GYG1	OMIM:613507
HP:0033684	Abnormal muscle fiber-type distribution	6329	SCN4A	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1134	CHRNA1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4038	LRP4	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4038	LRP4	OMIM:616304
HP:0033684	Abnormal muscle fiber-type distribution	1305	COL13A1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1140	CHRNB1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1140	CHRNB1	OMIM:616313
HP:0033684	Abnormal muscle fiber-type distribution	1144	CHRND	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1145	CHRNE	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4593	MUSK	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	5913	RAPSN	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	375790	AGRN	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	221264	AK9	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	285489	DOK7	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	29925	GMPPB	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	2673	GFPT1	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	1798	DPAGT1	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	85365	ALG2	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	85365	ALG2	OMIM:616228
HP:0033684	Abnormal muscle fiber-type distribution	199857	ALG14	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	87178	PNPT1	ORPHA:319514
HP:0033684	Abnormal muscle fiber-type distribution	7125	TNNC2	OMIM:620161
HP:0033684	Abnormal muscle fiber-type distribution	3736	KCNA1	ORPHA:972
HP:0033684	Abnormal muscle fiber-type distribution	57190	SELENON	OMIM:602771
HP:0033684	Abnormal muscle fiber-type distribution	146862	UNC45B	OMIM:619178
HP:0033684	Abnormal muscle fiber-type distribution	859	CAV3	OMIM:614321
HP:0033684	Abnormal muscle fiber-type distribution	390594	KBTBD13	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	7415	VCP	OMIM:613954
HP:0033684	Abnormal muscle fiber-type distribution	6445	SGCG	OMIM:253700
HP:0033684	Abnormal muscle fiber-type distribution	7138	TNNT1	ORPHA:98902
HP:0033684	Abnormal muscle fiber-type distribution	7138	TNNT1	OMIM:605355
HP:0033684	Abnormal muscle fiber-type distribution	124093	CCDC78	OMIM:614807
HP:0033684	Abnormal muscle fiber-type distribution	8604	SLC25A12	OMIM:612949
HP:0033684	Abnormal muscle fiber-type distribution	4620	MYH2	OMIM:605637
HP:0033684	Abnormal muscle fiber-type distribution	88	ACTN2	OMIM:618654
HP:0033684	Abnormal muscle fiber-type distribution	88	ACTN2	OMIM:618655
HP:0033684	Abnormal muscle fiber-type distribution	51776	MAP3K20	OMIM:617760
HP:0033684	Abnormal muscle fiber-type distribution	4632	MYL1	OMIM:618414
HP:0033684	Abnormal muscle fiber-type distribution	6786	STIM1	OMIM:160565
HP:0033684	Abnormal muscle fiber-type distribution	1185	CLCN6	OMIM:619173
HP:0033684	Abnormal muscle fiber-type distribution	26235	FBXL4	OMIM:615471
HP:0033684	Abnormal muscle fiber-type distribution	84274	COQ5	OMIM:619028
HP:0033684	Abnormal muscle fiber-type distribution	5442	POLRMT	OMIM:619743
HP:0033684	Abnormal muscle fiber-type distribution	339855	KY	OMIM:617114
HP:0033684	Abnormal muscle fiber-type distribution	1778	DYNC1H1	OMIM:158600
HP:0033684	Abnormal muscle fiber-type distribution	8884	SLC5A6	OMIM:619903
HP:0033684	Abnormal muscle fiber-type distribution	10730	YME1L1	OMIM:617302
HP:0033684	Abnormal muscle fiber-type distribution	311	ANXA11	OMIM:619733
HP:0033684	Abnormal muscle fiber-type distribution	11117	EMILIN1	OMIM:620080
HP:0033684	Abnormal muscle fiber-type distribution	79784	MYH14	OMIM:614369
HP:0033684	Abnormal muscle fiber-type distribution	5428	POLG	OMIM:607459
HP:0033684	Abnormal muscle fiber-type distribution	56652	TWNK	OMIM:607459
HP:0033684	Abnormal muscle fiber-type distribution	56652	TWNK	OMIM:271245
HP:0033684	Abnormal muscle fiber-type distribution	65055	REEP1	OMIM:620011
HP:0033684	Abnormal muscle fiber-type distribution	54332	GDAP1	OMIM:608340
HP:0033685	Fiber type grouping	8884	SLC5A6	OMIM:619903
HP:0033685	Fiber type grouping	10730	YME1L1	OMIM:617302
HP:0033685	Fiber type grouping	311	ANXA11	OMIM:619733
HP:0033685	Fiber type grouping	11117	EMILIN1	OMIM:620080
HP:0033685	Fiber type grouping	79784	MYH14	OMIM:614369
HP:0033685	Fiber type grouping	5428	POLG	OMIM:607459
HP:0033685	Fiber type grouping	56652	TWNK	OMIM:607459
HP:0033685	Fiber type grouping	56652	TWNK	OMIM:271245
HP:0033685	Fiber type grouping	65055	REEP1	OMIM:620011
HP:0033685	Fiber type grouping	54332	GDAP1	OMIM:608340
HP:0033686	Mitochondrial hypertrophy	9453	GGPS1	OMIM:619518
HP:0033686	Mitochondrial hypertrophy	1120	CHKB	OMIM:602541
HP:0033687	Short term memory impairment	50484	RRM2B	ORPHA:329336
HP:0033687	Short term memory impairment	246243	RNASEH1	ORPHA:329336
HP:0033687	Short term memory impairment	5621	PRNP	ORPHA:280397
HP:0033687	Short term memory impairment	4137	MAPT	ORPHA:240112
HP:0033687	Short term memory impairment	2934	GSN	ORPHA:85448
HP:0033687	Short term memory impairment	7274	TTPA	OMIM:277460
HP:0003037	Enlarged joints	1280	COL2A1	ORPHA:485
HP:0003037	Enlarged joints	1280	COL2A1	OMIM:156550
HP:0003037	Enlarged joints	1280	COL2A1	ORPHA:85198
HP:0003037	Enlarged joints	1302	COL11A2	OMIM:215150
HP:0003037	Enlarged joints	1302	COL11A2	ORPHA:1427
HP:0003037	Enlarged joints	4148	MATN3	ORPHA:156728
HP:0003037	Enlarged joints	6595	SMARCA2	OMIM:601358
HP:0003037	Enlarged joints	59341	TRPV4	OMIM:156530
HP:0003037	Enlarged joints	59341	TRPV4	OMIM:184252
HP:0003037	Enlarged joints	9469	CHST3	ORPHA:263463
HP:0003037	Enlarged joints	3977	LIFR	OMIM:601559
HP:0003037	Enlarged joints	10847	SRCAP	ORPHA:2044
HP:0003037	Enlarged joints	374654	KIF7	OMIM:607131
HP:0003037	Enlarged joints	374654	KIF7	ORPHA:166024
HP:0003037	Enlarged joints	7994	KAT6A	OMIM:616268
HP:0003037	Enlarged joints	3239	HOXD13	OMIM:186300
HP:0003037	Enlarged joints	8838	CCN6	ORPHA:1159
HP:0003037	Enlarged joints	8838	CCN6	OMIM:208230
HP:0003037	Enlarged joints	83452	RAB33B	OMIM:615222
HP:0033693	Phantosmia	5649	RELN	OMIM:600512
HP:0033693	Phantosmia	64780	MICAL1	OMIM:600512
HP:0033693	Phantosmia	9211	LGI1	OMIM:600512
HP:0003048	Radial head subluxation	3187	HNRNPH1	OMIM:620083
HP:0003048	Radial head subluxation	2737	GLI3	ORPHA:672
HP:0003048	Radial head subluxation	2737	GLI3	OMIM:146510
HP:0003048	Radial head subluxation	3835	KIF22	ORPHA:93360
HP:0003048	Radial head subluxation	54928	BPNT2	OMIM:614078
HP:0003048	Radial head subluxation	55636	CHD7	OMIM:214800
HP:0003048	Radial head subluxation	64131	XYLT1	OMIM:615777
HP:0003048	Radial head subluxation	8642	DCHS1	OMIM:601390
HP:0003048	Radial head subluxation	126792	B3GALT6	OMIM:271640
HP:0003049	Ulnar deviation of the wrist	1311	COMP	OMIM:177170
HP:0003049	Ulnar deviation of the wrist	2317	FLNB	ORPHA:56305
HP:0003049	Ulnar deviation of the wrist	23387	SIK3	OMIM:618162
HP:0003049	Ulnar deviation of the wrist	171023	ASXL1	ORPHA:97297
HP:0003049	Ulnar deviation of the wrist	171023	ASXL1	OMIM:605039
HP:0003049	Ulnar deviation of the wrist	57498	KIDINS220	OMIM:619501
HP:0003049	Ulnar deviation of the wrist	5881	RAC3	OMIM:618577
HP:0003049	Ulnar deviation of the wrist	2720	GLB1	OMIM:253010
HP:0003049	Ulnar deviation of the wrist	427	ASAH1	OMIM:228000
HP:0003049	Ulnar deviation of the wrist	2588	GALNS	OMIM:253000
HP:0003049	Ulnar deviation of the wrist	7140	TNNT3	ORPHA:1147
HP:0003049	Ulnar deviation of the wrist	7140	TNNT3	OMIM:618435
HP:0003049	Ulnar deviation of the wrist	4621	MYH3	ORPHA:1147
HP:0003049	Ulnar deviation of the wrist	7169	TPM2	ORPHA:1147
HP:0003049	Ulnar deviation of the wrist	259232	NALCN	ORPHA:1147
HP:0003049	Ulnar deviation of the wrist	7136	TNNI2	ORPHA:1147
HP:0003049	Ulnar deviation of the wrist	7136	TNNI2	OMIM:601680
HP:0003049	Ulnar deviation of the wrist	5077	PAX3	ORPHA:1529
HP:0003049	Ulnar deviation of the wrist	388015	RTL1	ORPHA:96334
HP:0003049	Ulnar deviation of the wrist	8788	DLK1	ORPHA:96334
HP:0003049	Ulnar deviation of the wrist	55384	MEG3	ORPHA:96334
HP:0003049	Ulnar deviation of the wrist	79087	ALG12	ORPHA:79324
HP:0003049	Ulnar deviation of the wrist	5447	POR	ORPHA:95699
HP:0003044	Shoulder flexion contracture	1303	COL12A1	ORPHA:536516
HP:0003044	Shoulder flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0003044	Shoulder flexion contracture	4621	MYH3	OMIM:193700
HP:0003044	Shoulder flexion contracture	3339	HSPG2	OMIM:255800
HP:0003044	Shoulder flexion contracture	3339	HSPG2	ORPHA:800
HP:0003044	Shoulder flexion contracture	3714	JAG2	OMIM:619566
HP:0003044	Shoulder flexion contracture	7138	TNNT1	ORPHA:98902
HP:0003044	Shoulder flexion contracture	7138	TNNT1	OMIM:605355
HP:0003044	Shoulder flexion contracture	339855	KY	OMIM:617114
HP:0003044	Shoulder flexion contracture	29895	MYL11	OMIM:619110
HP:0003045	Abnormal patella morphology	375	ARF1	ORPHA:98892
HP:0003045	Abnormal patella morphology	4131	MAP1B	ORPHA:98892
HP:0003045	Abnormal patella morphology	2316	FLNA	ORPHA:98892
HP:0003045	Abnormal patella morphology	23327	NEDD4L	ORPHA:98892
HP:0003045	Abnormal patella morphology	160418	TMTC3	ORPHA:98892
HP:0003045	Abnormal patella morphology	10564	ARFGEF2	ORPHA:98892
HP:0003045	Abnormal patella morphology	55780	ERMARD	ORPHA:98892
HP:0003045	Abnormal patella morphology	50515	CHST11	OMIM:618167
HP:0003045	Abnormal patella morphology	1387	CREBBP	OMIM:180849
HP:0003045	Abnormal patella morphology	1387	CREBBP	ORPHA:353277
HP:0003045	Abnormal patella morphology	1387	CREBBP	ORPHA:353281
HP:0003045	Abnormal patella morphology	2033	EP300	OMIM:180849
HP:0003045	Abnormal patella morphology	2033	EP300	ORPHA:353284
HP:0003045	Abnormal patella morphology	23522	KAT6B	OMIM:606170
HP:0003045	Abnormal patella morphology	23522	KAT6B	OMIM:603736
HP:0003045	Abnormal patella morphology	91461	PKDCC	OMIM:618821
HP:0003045	Abnormal patella morphology	6804	STX1A	ORPHA:904
HP:0003045	Abnormal patella morphology	7461	CLIP2	ORPHA:904
HP:0003045	Abnormal patella morphology	84277	DNAJC30	ORPHA:904
HP:0003045	Abnormal patella morphology	8468	FKBP6	ORPHA:904
HP:0003045	Abnormal patella morphology	5982	RFC2	ORPHA:904
HP:0003045	Abnormal patella morphology	2969	GTF2I	ORPHA:904
HP:0003045	Abnormal patella morphology	3984	LIMK1	ORPHA:904
HP:0003045	Abnormal patella morphology	9569	GTF2IRD1	ORPHA:904
HP:0003045	Abnormal patella morphology	155382	VPS37D	ORPHA:904
HP:0003045	Abnormal patella morphology	155368	METTL27	ORPHA:904
HP:0003045	Abnormal patella morphology	114049	BUD23	ORPHA:904
HP:0003045	Abnormal patella morphology	7458	EIF4H	ORPHA:904
HP:0003045	Abnormal patella morphology	84163	GTF2IRD2	ORPHA:904
HP:0003045	Abnormal patella morphology	9275	BCL7B	ORPHA:904
HP:0003045	Abnormal patella morphology	26608	TBL2	ORPHA:904
HP:0003045	Abnormal patella morphology	653361	NCF1	ORPHA:904
HP:0003045	Abnormal patella morphology	135886	TMEM270	ORPHA:904
HP:0003045	Abnormal patella morphology	51085	MLXIPL	ORPHA:904
HP:0003045	Abnormal patella morphology	9031	BAZ1B	ORPHA:904
HP:0003045	Abnormal patella morphology	2006	ELN	ORPHA:904
HP:0003045	Abnormal patella morphology	9939	RBM8A	ORPHA:3320
HP:0003045	Abnormal patella morphology	9939	RBM8A	OMIM:274000
HP:0003045	Abnormal patella morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0003045	Abnormal patella morphology	8200	GDF5	ORPHA:968
HP:0003045	Abnormal patella morphology	8200	GDF5	OMIM:228900
HP:0003045	Abnormal patella morphology	5351	PLOD1	ORPHA:1900
HP:0003045	Abnormal patella morphology	1312	COMT	ORPHA:567
HP:0003045	Abnormal patella morphology	221037	JMJD1C	ORPHA:567
HP:0003045	Abnormal patella morphology	2812	GP1BB	ORPHA:567
HP:0003045	Abnormal patella morphology	6239	RREB1	ORPHA:567
HP:0003045	Abnormal patella morphology	6899	TBX1	ORPHA:567
HP:0003045	Abnormal patella morphology	6899	TBX1	OMIM:188400
HP:0003045	Abnormal patella morphology	7290	HIRA	ORPHA:567
HP:0003045	Abnormal patella morphology	9632	SEC24C	ORPHA:567
HP:0003045	Abnormal patella morphology	7353	UFD1	ORPHA:567
HP:0003045	Abnormal patella morphology	421	ARVCF	ORPHA:567
HP:0003045	Abnormal patella morphology	64131	XYLT1	ORPHA:1425
HP:0003045	Abnormal patella morphology	124583	CANT1	ORPHA:1425
HP:0003045	Abnormal patella morphology	55790	CSGALNACT1	ORPHA:1425
HP:0003045	Abnormal patella morphology	2317	FLNB	ORPHA:56305
HP:0003045	Abnormal patella morphology	10682	EBP	OMIM:302960
HP:0003045	Abnormal patella morphology	10682	EBP	ORPHA:35173
HP:0003045	Abnormal patella morphology	1277	COL1A1	ORPHA:287
HP:0003045	Abnormal patella morphology	1289	COL5A1	ORPHA:287
HP:0003045	Abnormal patella morphology	1290	COL5A2	ORPHA:287
HP:0003045	Abnormal patella morphology	23233	EXOC6B	OMIM:618395
HP:0003045	Abnormal patella morphology	2535	FZD2	ORPHA:93328
HP:0003045	Abnormal patella morphology	4853	NOTCH2	ORPHA:955
HP:0003045	Abnormal patella morphology	4952	OCRL	ORPHA:534
HP:0003045	Abnormal patella morphology	4010	LMX1B	ORPHA:2614
HP:0003045	Abnormal patella morphology	1297	COL9A1	ORPHA:166002
HP:0003045	Abnormal patella morphology	1298	COL9A2	ORPHA:166002
HP:0003045	Abnormal patella morphology	1299	COL9A3	ORPHA:166002
HP:0003045	Abnormal patella morphology	10804	GJB6	ORPHA:477
HP:0003045	Abnormal patella morphology	2706	GJB2	ORPHA:477
HP:0003045	Abnormal patella morphology	9401	RECQL4	ORPHA:221016
HP:0003045	Abnormal patella morphology	9401	RECQL4	OMIM:218600
HP:0003045	Abnormal patella morphology	9496	TBX4	OMIM:147891
HP:0003045	Abnormal patella morphology	9496	TBX4	ORPHA:261279
HP:0003045	Abnormal patella morphology	57688	ZSWIM6	ORPHA:1827
HP:0003045	Abnormal patella morphology	57688	ZSWIM6	OMIM:603671
HP:0003045	Abnormal patella morphology	5307	PITX1	OMIM:119800
HP:0003045	Abnormal patella morphology	55148	UBR7	OMIM:619189
HP:0003045	Abnormal patella morphology	6812	STXBP1	ORPHA:495818
HP:0003045	Abnormal patella morphology	29980	DONSON	OMIM:617604
HP:0003045	Abnormal patella morphology	6662	SOX9	OMIM:114290
HP:0003045	Abnormal patella morphology	54496	PRMT7	ORPHA:464288
HP:0003045	Abnormal patella morphology	23594	ORC6	OMIM:613803
HP:0003045	Abnormal patella morphology	64682	ANAPC1	ORPHA:221008
HP:0003045	Abnormal patella morphology	10586	MAB21L2	OMIM:615877
HP:0003045	Abnormal patella morphology	6261	RYR1	ORPHA:178145
HP:0003045	Abnormal patella morphology	63895	PIEZO2	OMIM:108145
HP:0003045	Abnormal patella morphology	54928	BPNT2	OMIM:614078
HP:0003045	Abnormal patella morphology	5567	PRKACB	OMIM:619143
HP:0003045	Abnormal patella morphology	51715	RAB23	OMIM:201000
HP:0003045	Abnormal patella morphology	1146	CHRNG	OMIM:265000
HP:0003045	Abnormal patella morphology	7476	WNT7A	OMIM:228930
HP:0003045	Abnormal patella morphology	727857	BHLHA9	ORPHA:3329
HP:0003045	Abnormal patella morphology	64327	LMBR1	ORPHA:988
HP:0003045	Abnormal patella morphology	64327	LMBR1	OMIM:135750
HP:0003045	Abnormal patella morphology	6469	SHH	ORPHA:988
HP:0003045	Abnormal patella morphology	157570	ESCO2	ORPHA:3103
HP:0003045	Abnormal patella morphology	81620	CDT1	ORPHA:2554
HP:0003045	Abnormal patella morphology	81620	CDT1	OMIM:613804
HP:0003045	Abnormal patella morphology	5000	ORC4	ORPHA:2554
HP:0003045	Abnormal patella morphology	5000	ORC4	OMIM:613800
HP:0003045	Abnormal patella morphology	990	CDC6	ORPHA:2554
HP:0003045	Abnormal patella morphology	990	CDC6	OMIM:613805
HP:0003045	Abnormal patella morphology	51053	GMNN	ORPHA:2554
HP:0003045	Abnormal patella morphology	51053	GMNN	OMIM:616835
HP:0003045	Abnormal patella morphology	6473	SHOX	ORPHA:240
HP:0003045	Abnormal patella morphology	3835	KIF22	OMIM:603546
HP:0003045	Abnormal patella morphology	57492	ARID1B	OMIM:135900
HP:0003045	Abnormal patella morphology	8318	CDC45	OMIM:617063
HP:0003045	Abnormal patella morphology	4998	ORC1	OMIM:224690
HP:0003045	Abnormal patella morphology	60681	FKBP10	ORPHA:1149
HP:0003045	Abnormal patella morphology	1303	COL12A1	ORPHA:536516
HP:0003045	Abnormal patella morphology	7528	YY1	ORPHA:506358
HP:0003045	Abnormal patella morphology	2201	FBN2	OMIM:121050
HP:0003045	Abnormal patella morphology	8239	USP9X	ORPHA:480880
HP:0003045	Abnormal patella morphology	1788	DNMT3A	OMIM:615879
HP:0003045	Abnormal patella morphology	51256	TBC1D7	OMIM:248000
HP:0003045	Abnormal patella morphology	1836	SLC26A2	ORPHA:93307
HP:0003045	Abnormal patella morphology	1836	SLC26A2	OMIM:226900
HP:0003045	Abnormal patella morphology	1280	COL2A1	ORPHA:166011
HP:0003045	Abnormal patella morphology	114548	NLRP3	OMIM:607115
HP:0003043	Abnormal shoulder morphology	54808	DYM	OMIM:223800
HP:0003043	Abnormal shoulder morphology	6399	TRAPPC2	ORPHA:93284
HP:0003043	Abnormal shoulder morphology	6775	STAT4	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	3560	IL2RB	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	79722	ANKRD55	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	26191	PTPN22	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	919	CD247	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	3559	IL2RA	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	5771	PTPN2	ORPHA:85408
HP:0003043	Abnormal shoulder morphology	5621	PRNP	ORPHA:157941
HP:0003043	Abnormal shoulder morphology	8838	CCN6	ORPHA:1159
HP:0003043	Abnormal shoulder morphology	55733	HHAT	ORPHA:1422
HP:0003043	Abnormal shoulder morphology	9573	GDF3	ORPHA:2345
HP:0003043	Abnormal shoulder morphology	392255	GDF6	ORPHA:2345
HP:0003043	Abnormal shoulder morphology	4222	MEOX1	ORPHA:2345
HP:0003043	Abnormal shoulder morphology	9939	RBM8A	OMIM:274000
HP:0003043	Abnormal shoulder morphology	8260	NAA10	ORPHA:568
HP:0003043	Abnormal shoulder morphology	54880	BCOR	ORPHA:568
HP:0003043	Abnormal shoulder morphology	1303	COL12A1	ORPHA:536516
HP:0003043	Abnormal shoulder morphology	100151683	RNU4ATAC	OMIM:210710
HP:0003043	Abnormal shoulder morphology	4621	MYH3	OMIM:193700
HP:0003043	Abnormal shoulder morphology	3339	HSPG2	OMIM:255800
HP:0003043	Abnormal shoulder morphology	3339	HSPG2	ORPHA:800
HP:0003043	Abnormal shoulder morphology	3714	JAG2	OMIM:619566
HP:0003043	Abnormal shoulder morphology	7138	TNNT1	ORPHA:98902
HP:0003043	Abnormal shoulder morphology	7138	TNNT1	OMIM:605355
HP:0003043	Abnormal shoulder morphology	339855	KY	OMIM:617114
HP:0003043	Abnormal shoulder morphology	29895	MYL11	OMIM:619110
HP:0003043	Abnormal shoulder morphology	9469	CHST3	OMIM:143095
HP:0003043	Abnormal shoulder morphology	9469	CHST3	OMIM:245600
HP:0003043	Abnormal shoulder morphology	1277	COL1A1	ORPHA:287
HP:0003043	Abnormal shoulder morphology	1289	COL5A1	ORPHA:287
HP:0003043	Abnormal shoulder morphology	1290	COL5A2	ORPHA:287
HP:0003043	Abnormal shoulder morphology	375	ARF1	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	4131	MAP1B	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	2316	FLNA	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	23327	NEDD4L	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	160418	TMTC3	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	10564	ARFGEF2	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	55780	ERMARD	ORPHA:98892
HP:0003043	Abnormal shoulder morphology	26229	B3GAT3	OMIM:245600
HP:0003043	Abnormal shoulder morphology	55768	NGLY1	ORPHA:404454
HP:0003043	Abnormal shoulder morphology	165	AEBP1	ORPHA:536532
HP:0003043	Abnormal shoulder morphology	165	AEBP1	OMIM:618000
HP:0003043	Abnormal shoulder morphology	57167	SALL4	OMIM:607323
HP:0003043	Abnormal shoulder morphology	5167	ENPP1	ORPHA:51608
HP:0003043	Abnormal shoulder morphology	368	ABCC6	ORPHA:51608
HP:0003043	Abnormal shoulder morphology	388015	RTL1	ORPHA:96334
HP:0003043	Abnormal shoulder morphology	8788	DLK1	ORPHA:96334
HP:0003043	Abnormal shoulder morphology	55384	MEG3	ORPHA:96334
HP:0003043	Abnormal shoulder morphology	4998	ORC1	OMIM:224690
HP:0003043	Abnormal shoulder morphology	145258	GSC	OMIM:602471
HP:0003043	Abnormal shoulder morphology	4010	LMX1B	OMIM:161200
HP:0003043	Abnormal shoulder morphology	26175	LYSET	OMIM:619345
HP:0003043	Abnormal shoulder morphology	91179	SCARF2	OMIM:600920
HP:0003043	Abnormal shoulder morphology	163175	LGI4	OMIM:617468
HP:0003043	Abnormal shoulder morphology	2783	GNB2	OMIM:619503
HP:0003043	Abnormal shoulder morphology	4000	LMNA	OMIM:212112
HP:0003043	Abnormal shoulder morphology	1278	COL1A2	ORPHA:230851
HP:0003043	Abnormal shoulder morphology	1146	CHRNG	OMIM:265000
HP:0003043	Abnormal shoulder morphology	1947	EFNB1	OMIM:304110
HP:0003043	Abnormal shoulder morphology	1947	EFNB1	ORPHA:1520
HP:0003043	Abnormal shoulder morphology	538	ATP7A	ORPHA:198
HP:0003043	Abnormal shoulder morphology	6910	TBX5	ORPHA:392
HP:0003043	Abnormal shoulder morphology	63895	PIEZO2	OMIM:114300
HP:0003043	Abnormal shoulder morphology	83932	SPRTN	OMIM:616200
HP:0003043	Abnormal shoulder morphology	92255	LMBRD2	OMIM:619694
HP:0003043	Abnormal shoulder morphology	10265	IRX5	OMIM:611174
HP:0003043	Abnormal shoulder morphology	51633	OTUD6B	OMIM:617452
HP:0003043	Abnormal shoulder morphology	59341	TRPV4	OMIM:606071
HP:0003043	Abnormal shoulder morphology	6804	STX1A	ORPHA:904
HP:0003043	Abnormal shoulder morphology	7461	CLIP2	ORPHA:904
HP:0003043	Abnormal shoulder morphology	84277	DNAJC30	ORPHA:904
HP:0003043	Abnormal shoulder morphology	8468	FKBP6	ORPHA:904
HP:0003043	Abnormal shoulder morphology	5982	RFC2	ORPHA:904
HP:0003043	Abnormal shoulder morphology	2969	GTF2I	ORPHA:904
HP:0003043	Abnormal shoulder morphology	3984	LIMK1	ORPHA:904
HP:0003043	Abnormal shoulder morphology	9569	GTF2IRD1	ORPHA:904
HP:0003043	Abnormal shoulder morphology	155382	VPS37D	ORPHA:904
HP:0003043	Abnormal shoulder morphology	155368	METTL27	ORPHA:904
HP:0003043	Abnormal shoulder morphology	114049	BUD23	ORPHA:904
HP:0003043	Abnormal shoulder morphology	7458	EIF4H	ORPHA:904
HP:0003043	Abnormal shoulder morphology	84163	GTF2IRD2	ORPHA:904
HP:0003043	Abnormal shoulder morphology	9275	BCL7B	ORPHA:904
HP:0003043	Abnormal shoulder morphology	26608	TBL2	ORPHA:904
HP:0003043	Abnormal shoulder morphology	653361	NCF1	ORPHA:904
HP:0003043	Abnormal shoulder morphology	135886	TMEM270	ORPHA:904
HP:0003043	Abnormal shoulder morphology	51085	MLXIPL	ORPHA:904
HP:0003043	Abnormal shoulder morphology	51085	MLXIPL	OMIM:194050
HP:0003043	Abnormal shoulder morphology	9031	BAZ1B	ORPHA:904
HP:0003043	Abnormal shoulder morphology	2006	ELN	ORPHA:904
HP:0003043	Abnormal shoulder morphology	2006	ELN	OMIM:194050
HP:0003043	Abnormal shoulder morphology	2138	EYA1	ORPHA:2792
HP:0003043	Abnormal shoulder morphology	2138	EYA1	OMIM:166780
HP:0003043	Abnormal shoulder morphology	5075	PAX1	ORPHA:2792
HP:0003043	Abnormal shoulder morphology	5075	PAX1	OMIM:615560
HP:0003043	Abnormal shoulder morphology	9896	FIG4	OMIM:216340
HP:0003043	Abnormal shoulder morphology	860	RUNX2	ORPHA:1452
HP:0003043	Abnormal shoulder morphology	55636	CHD7	OMIM:214800
HP:0003043	Abnormal shoulder morphology	8450	CUL4B	ORPHA:85293
HP:0003043	Abnormal shoulder morphology	84919	PPP1R15B	OMIM:616817
HP:0003043	Abnormal shoulder morphology	84919	PPP1R15B	ORPHA:391408
HP:0003043	Abnormal shoulder morphology	93587	TRMT10A	ORPHA:391408
HP:0003043	Abnormal shoulder morphology	865	CBFB	OMIM:620099
HP:0003043	Abnormal shoulder morphology	5727	PTCH1	OMIM:109400
HP:0003043	Abnormal shoulder morphology	2556	GABRA3	OMIM:301091
HP:0003040	Arthropathy	25923	ATL3	OMIM:615632
HP:0003040	Arthropathy	25923	ATL3	ORPHA:36386
HP:0003040	Arthropathy	8518	ELP1	OMIM:223900
HP:0003040	Arthropathy	4914	NTRK1	ORPHA:642
HP:0003040	Arthropathy	4914	NTRK1	OMIM:256800
HP:0003040	Arthropathy	10558	SPTLC1	ORPHA:36386
HP:0003040	Arthropathy	9517	SPTLC2	ORPHA:36386
HP:0003040	Arthropathy	51062	ATL1	ORPHA:36386
HP:0003040	Arthropathy	59341	TRPV4	OMIM:606835
HP:0003040	Arthropathy	4313	MMP2	ORPHA:371428
HP:0003040	Arthropathy	4323	MMP14	ORPHA:371428
HP:0003040	Arthropathy	4323	MMP14	OMIM:277950
HP:0003040	Arthropathy	1280	COL2A1	ORPHA:485
HP:0003040	Arthropathy	1280	COL2A1	OMIM:108300
HP:0003040	Arthropathy	1301	COL11A1	OMIM:604841
HP:0003040	Arthropathy	10216	PRG4	OMIM:208250
HP:0003040	Arthropathy	56172	ANKH	OMIM:118600
HP:0003040	Arthropathy	8838	CCN6	OMIM:208230
HP:0003040	Arthropathy	2157	F8	ORPHA:169805
HP:0003040	Arthropathy	9469	CHST3	OMIM:143095
HP:0003040	Arthropathy	1777	DNASE2	OMIM:619858
HP:0003040	Arthropathy	249	ALPL	OMIM:146300
HP:0003040	Arthropathy	654	BMP6	ORPHA:465508
HP:0003040	Arthropathy	3077	HFE	ORPHA:465508
HP:0003040	Arthropathy	3077	HFE	OMIM:235200
HP:0003040	Arthropathy	3572	IL6ST	OMIM:618523
HP:0003040	Arthropathy	3081	HGD	OMIM:203500
HP:0003040	Arthropathy	25939	SAMHD1	OMIM:612952
HP:0003040	Arthropathy	57817	HAMP	ORPHA:79230
HP:0003040	Arthropathy	148738	HJV	ORPHA:79230
HP:0003040	Arthropathy	4803	NGF	OMIM:608654
HP:0003040	Arthropathy	3248	HPGD	OMIM:259100
HP:0003040	Arthropathy	650	BMP2	OMIM:235200
HP:0003040	Arthropathy	5293	PIK3CD	OMIM:619281
HP:0003040	Arthropathy	4210	MEFV	OMIM:134610
HP:0003040	Arthropathy	1758	DMP1	ORPHA:289176
HP:0003040	Arthropathy	5167	ENPP1	ORPHA:289176
HP:0003040	Arthropathy	22861	NLRP1	OMIM:617388
HP:0003040	Arthropathy	114548	NLRP3	OMIM:191900
HP:0003040	Arthropathy	7128	TNFAIP3	OMIM:616744
HP:0003040	Arthropathy	6774	STAT3	OMIM:615952
HP:0003040	Arthropathy	7132	TNFRSF1A	OMIM:142680
HP:0003040	Arthropathy	26525	IL36RN	OMIM:614204
HP:0003040	Arthropathy	6583	SLC22A4	OMIM:180300
HP:0003040	Arthropathy	26191	PTPN22	OMIM:180300
HP:0003040	Arthropathy	4261	CIITA	OMIM:180300
HP:0003040	Arthropathy	51744	CD244	OMIM:180300
HP:0003040	Arthropathy	4795	NFKBIL1	OMIM:180300
HP:0003040	Arthropathy	3586	IL10	OMIM:180300
HP:0003040	Arthropathy	64127	NOD2	ORPHA:90340
HP:0003053	Epiphyseal deformities of tubular bones	2720	GLB1	OMIM:253010
HP:0003053	Epiphyseal deformities of tubular bones	2588	GALNS	OMIM:253000
HP:0003053	Epiphyseal deformities of tubular bones	1280	COL2A1	OMIM:156550
HP:0003057	Tetraamelia	7473	WNT3	OMIM:273395
HP:0003057	Tetraamelia	7473	WNT3	ORPHA:3301
HP:0003057	Tetraamelia	340419	RSPO2	ORPHA:3301
HP:0003059	Abnormality of the radioulnar joints	59341	TRPV4	ORPHA:93314
HP:0003059	Abnormality of the radioulnar joints	23233	EXOC6B	ORPHA:93359
HP:0003059	Abnormality of the radioulnar joints	126792	B3GALT6	ORPHA:93359
HP:0003059	Abnormality of the radioulnar joints	165	AEBP1	ORPHA:536532
HP:0003059	Abnormality of the radioulnar joints	124583	CANT1	OMIM:251450
HP:0003059	Abnormality of the radioulnar joints	5447	POR	ORPHA:95699
HP:0003066	Limited knee extension	56896	DPYSL5	OMIM:619435
HP:0003066	Limited knee extension	55790	CSGALNACT1	OMIM:618870
HP:0003066	Limited knee extension	1299	COL9A3	OMIM:600969
HP:0003066	Limited knee extension	10082	GPC6	OMIM:258315
HP:0003066	Limited knee extension	2201	FBN2	OMIM:121050
HP:0003066	Limited knee extension	2146	EZH2	OMIM:277590
HP:0003066	Limited knee extension	538	ATP7A	OMIM:304150
HP:0003066	Limited knee extension	6335	SCN9A	ORPHA:33069
HP:0003066	Limited knee extension	6335	SCN9A	ORPHA:36387
HP:0003066	Limited knee extension	6326	SCN2A	ORPHA:33069
HP:0003066	Limited knee extension	6326	SCN2A	ORPHA:36387
HP:0003066	Limited knee extension	2554	GABRA1	ORPHA:33069
HP:0003066	Limited knee extension	6323	SCN1A	ORPHA:33069
HP:0003066	Limited knee extension	6323	SCN1A	ORPHA:36387
HP:0003066	Limited knee extension	6324	SCN1B	ORPHA:33069
HP:0003066	Limited knee extension	6324	SCN1B	ORPHA:36387
HP:0003066	Limited knee extension	57526	PCDH19	ORPHA:33069
HP:0003066	Limited knee extension	2566	GABRG2	ORPHA:33069
HP:0003066	Limited knee extension	2566	GABRG2	ORPHA:36387
HP:0003066	Limited knee extension	112755	STX1B	ORPHA:36387
HP:0003066	Limited knee extension	2563	GABRD	ORPHA:36387
HP:0003066	Limited knee extension	348980	HCN1	ORPHA:36387
HP:0003066	Limited knee extension	84059	ADGRV1	ORPHA:36387
HP:0003066	Limited knee extension	54808	DYM	ORPHA:239
HP:0003067	Madelung deformity	25839	COG4	OMIM:618150
HP:0003067	Madelung deformity	6473	SHOX	ORPHA:240
HP:0003067	Madelung deformity	6473	SHOX	OMIM:249700
HP:0003067	Madelung deformity	6473	SHOX	ORPHA:314795
HP:0003067	Madelung deformity	6473	SHOX	OMIM:127300
HP:0003067	Madelung deformity	6473	SHOX	ORPHA:2632
HP:0003067	Madelung deformity	8200	GDF5	OMIM:113100
HP:0003067	Madelung deformity	51199	NIN	OMIM:614851
HP:0003067	Madelung deformity	51199	NIN	ORPHA:319675
HP:0003067	Madelung deformity	2697	GJA1	ORPHA:2710
HP:0003068	Madelung-like forearm deformities	2131	EXT1	OMIM:133700
HP:0003068	Madelung-like forearm deformities	2132	EXT2	OMIM:133701
HP:0003070	Elbow ankylosis	2260	FGFR1	OMIM:101600
HP:0003070	Elbow ankylosis	2263	FGFR2	OMIM:101600
HP:0003070	Elbow ankylosis	9791	PTDSS1	ORPHA:2658
HP:0003070	Elbow ankylosis	9241	NOG	ORPHA:3250
HP:0003070	Elbow ankylosis	8200	GDF5	ORPHA:3250
HP:0003070	Elbow ankylosis	7476	WNT7A	OMIM:276820
HP:0003070	Elbow ankylosis	4593	MUSK	OMIM:208150
HP:0003070	Elbow ankylosis	5447	POR	ORPHA:95699
HP:0003073	Hypoalbuminemia	83483	PLVAP	OMIM:618183
HP:0003073	Hypoalbuminemia	3376	IARS1	OMIM:617093
HP:0003073	Hypoalbuminemia	10785	WDR4	OMIM:618347
HP:0003073	Hypoalbuminemia	55746	NUP133	OMIM:618349
HP:0003073	Hypoalbuminemia	55746	NUP133	ORPHA:656
HP:0003073	Hypoalbuminemia	84942	WDR73	OMIM:251300
HP:0003073	Hypoalbuminemia	55775	TDP1	ORPHA:94124
HP:0003073	Hypoalbuminemia	55775	TDP1	OMIM:607250
HP:0003073	Hypoalbuminemia	5551	PRF1	ORPHA:540
HP:0003073	Hypoalbuminemia	5551	PRF1	OMIM:603553
HP:0003073	Hypoalbuminemia	8676	STX11	ORPHA:540
HP:0003073	Hypoalbuminemia	201294	UNC13D	ORPHA:540
HP:0003073	Hypoalbuminemia	6813	STXBP2	ORPHA:540
HP:0003073	Hypoalbuminemia	58484	NLRC4	OMIM:616050
HP:0003073	Hypoalbuminemia	23395	LARS2	OMIM:617021
HP:0003073	Hypoalbuminemia	162	AP1B1	OMIM:242150
HP:0003073	Hypoalbuminemia	396	ARHGDIA	OMIM:615244
HP:0003073	Hypoalbuminemia	396	ARHGDIA	ORPHA:656
HP:0003073	Hypoalbuminemia	1294	COL7A1	ORPHA:89842
HP:0003073	Hypoalbuminemia	65082	VPS33A	OMIM:617303
HP:0003073	Hypoalbuminemia	65082	VPS33A	ORPHA:505248
HP:0003073	Hypoalbuminemia	3459	IFNGR1	OMIM:209950
HP:0003073	Hypoalbuminemia	57122	NUP107	OMIM:616730
HP:0003073	Hypoalbuminemia	57122	NUP107	ORPHA:656
HP:0003073	Hypoalbuminemia	8526	DGKE	OMIM:615008
HP:0003073	Hypoalbuminemia	331	XIAP	OMIM:308240
HP:0003073	Hypoalbuminemia	4068	SH2D1A	OMIM:308240
HP:0003073	Hypoalbuminemia	4868	NPHS1	OMIM:256300
HP:0003073	Hypoalbuminemia	4868	NPHS1	ORPHA:656
HP:0003073	Hypoalbuminemia	23607	CD2AP	ORPHA:656
HP:0003073	Hypoalbuminemia	9688	NUP93	ORPHA:656
HP:0003073	Hypoalbuminemia	4643	MYO1E	ORPHA:656
HP:0003073	Hypoalbuminemia	4643	MYO1E	OMIM:614131
HP:0003073	Hypoalbuminemia	64423	INF2	ORPHA:656
HP:0003073	Hypoalbuminemia	26130	GAPVD1	ORPHA:656
HP:0003073	Hypoalbuminemia	7490	WT1	ORPHA:656
HP:0003073	Hypoalbuminemia	51479	ANKFY1	ORPHA:656
HP:0003073	Hypoalbuminemia	54443	ANLN	ORPHA:656
HP:0003073	Hypoalbuminemia	5800	PTPRO	ORPHA:656
HP:0003073	Hypoalbuminemia	5800	PTPRO	OMIM:614196
HP:0003073	Hypoalbuminemia	286204	CRB2	ORPHA:656
HP:0003073	Hypoalbuminemia	23165	NUP205	ORPHA:656
HP:0003073	Hypoalbuminemia	2013	EMP2	ORPHA:656
HP:0003073	Hypoalbuminemia	79023	NUP37	ORPHA:656
HP:0003073	Hypoalbuminemia	51196	PLCE1	ORPHA:656
HP:0003073	Hypoalbuminemia	51196	PLCE1	OMIM:610725
HP:0003073	Hypoalbuminemia	79902	NUP85	ORPHA:656
HP:0003073	Hypoalbuminemia	1285	COL4A3	ORPHA:656
HP:0003073	Hypoalbuminemia	79934	COQ8B	ORPHA:656
HP:0003073	Hypoalbuminemia	79934	COQ8B	OMIM:615573
HP:0003073	Hypoalbuminemia	23279	NUP160	ORPHA:656
HP:0003073	Hypoalbuminemia	9863	MAGI2	ORPHA:656
HP:0003073	Hypoalbuminemia	9863	MAGI2	OMIM:617609
HP:0003073	Hypoalbuminemia	81	ACTN4	ORPHA:656
HP:0003073	Hypoalbuminemia	81	ACTN4	OMIM:603278
HP:0003073	Hypoalbuminemia	7225	TRPC6	ORPHA:656
HP:0003073	Hypoalbuminemia	8542	APOL1	ORPHA:656
HP:0003073	Hypoalbuminemia	54885	TBC1D8B	ORPHA:656
HP:0003073	Hypoalbuminemia	7827	NPHS2	ORPHA:656
HP:0003073	Hypoalbuminemia	7827	NPHS2	OMIM:600995
HP:0003073	Hypoalbuminemia	83478	ARHGAP24	ORPHA:656
HP:0003073	Hypoalbuminemia	23500	DAAM2	ORPHA:656
HP:0003073	Hypoalbuminemia	5076	PAX2	ORPHA:656
HP:0003073	Hypoalbuminemia	55687	TRMU	OMIM:613070
HP:0003073	Hypoalbuminemia	2859	GPR35	ORPHA:171
HP:0003073	Hypoalbuminemia	10507	SEMA4D	ORPHA:171
HP:0003073	Hypoalbuminemia	4485	MST1	ORPHA:171
HP:0003073	Hypoalbuminemia	6925	TCF4	ORPHA:171
HP:0003073	Hypoalbuminemia	4089	SMAD4	OMIM:174900
HP:0003073	Hypoalbuminemia	657	BMPR1A	OMIM:174900
HP:0003073	Hypoalbuminemia	657	BMPR1A	ORPHA:79076
HP:0003073	Hypoalbuminemia	6578	SLCO2A1	OMIM:614441
HP:0003073	Hypoalbuminemia	100131801	PET100	OMIM:619055
HP:0003073	Hypoalbuminemia	7019	TFAM	OMIM:617156
HP:0003073	Hypoalbuminemia	3394	IRF8	OMIM:226990
HP:0003073	Hypoalbuminemia	11232	POLG2	OMIM:618528
HP:0003073	Hypoalbuminemia	191	AHCY	OMIM:613752
HP:0003073	Hypoalbuminemia	191	AHCY	ORPHA:88618
HP:0003073	Hypoalbuminemia	26007	TKFC	OMIM:618805
HP:0003073	Hypoalbuminemia	1716	DGUOK	OMIM:251880
HP:0003073	Hypoalbuminemia	1717	DHCR7	OMIM:270400
HP:0003073	Hypoalbuminemia	4547	MTTP	ORPHA:14
HP:0003073	Hypoalbuminemia	567	B2M	OMIM:241600
HP:0003073	Hypoalbuminemia	54840	APTX	OMIM:208920
HP:0003073	Hypoalbuminemia	4645	MYO5B	OMIM:619868
HP:0003073	Hypoalbuminemia	5728	PTEN	ORPHA:79076
HP:0003073	Hypoalbuminemia	950	SCARB2	OMIM:254900
HP:0003073	Hypoalbuminemia	79053	ALG8	OMIM:608104
HP:0003073	Hypoalbuminemia	55644	OSGEP	OMIM:617729
HP:0003073	Hypoalbuminemia	5373	PMM2	OMIM:212065
HP:0003073	Hypoalbuminemia	5373	PMM2	ORPHA:79318
HP:0003073	Hypoalbuminemia	51128	SAR1B	OMIM:246700
HP:0003073	Hypoalbuminemia	8879	SGPL1	OMIM:617575
HP:0003073	Hypoalbuminemia	213	ALB	OMIM:616000
HP:0003073	Hypoalbuminemia	213	ALB	ORPHA:86816
HP:0003073	Hypoalbuminemia	23533	PIK3R5	ORPHA:64753
HP:0003073	Hypoalbuminemia	23064	SETX	ORPHA:64753
HP:0003073	Hypoalbuminemia	10056	FARSB	OMIM:613658
HP:0003073	Hypoalbuminemia	2335	FN1	ORPHA:84090
HP:0003073	Hypoalbuminemia	3675	ITGA3	OMIM:614748
HP:0003073	Hypoalbuminemia	56052	ALG1	ORPHA:79327
HP:0003073	Hypoalbuminemia	3594	IL12RB1	ORPHA:186
HP:0003073	Hypoalbuminemia	23534	TNPO3	ORPHA:186
HP:0003073	Hypoalbuminemia	3592	IL12A	ORPHA:186
HP:0003073	Hypoalbuminemia	6689	SPIB	ORPHA:186
HP:0003073	Hypoalbuminemia	5450	POU2AF1	ORPHA:186
HP:0003073	Hypoalbuminemia	9966	TNFSF15	ORPHA:186
HP:0003073	Hypoalbuminemia	79258	MMEL1	ORPHA:186
HP:0003073	Hypoalbuminemia	3663	IRF5	ORPHA:186
HP:0003073	Hypoalbuminemia	100147744	RNU7-1	OMIM:619487
HP:0003073	Hypoalbuminemia	10165	SLC25A13	ORPHA:247598
HP:0003073	Hypoalbuminemia	10165	SLC25A13	ORPHA:247585
HP:0003073	Hypoalbuminemia	540	ATP7B	OMIM:277900
HP:0003073	Hypoalbuminemia	4351	MPI	ORPHA:79319
HP:0003073	Hypoalbuminemia	4351	MPI	OMIM:602579
HP:0003073	Hypoalbuminemia	57107	PDSS2	ORPHA:255249
HP:0003073	Hypoalbuminemia	57107	PDSS2	OMIM:614652
HP:0003073	Hypoalbuminemia	27235	COQ2	ORPHA:255249
HP:0003073	Hypoalbuminemia	79989	IFT56	OMIM:619534
HP:0003073	Hypoalbuminemia	11284	PNKP	OMIM:616267
HP:0003073	Hypoalbuminemia	9652	SKIC3	OMIM:222470
HP:0003073	Hypoalbuminemia	2193	FARSA	OMIM:619013
HP:0003073	Hypoalbuminemia	125988	MICOS13	OMIM:618329
HP:0003073	Hypoalbuminemia	50943	FOXP3	ORPHA:37042
HP:0003073	Hypoalbuminemia	29929	ALG6	ORPHA:79320
HP:0003073	Hypoalbuminemia	2072	ERCC4	OMIM:610965
HP:0003073	Hypoalbuminemia	147372	CCBE1	OMIM:235510
HP:0003073	Hypoalbuminemia	79087	ALG12	ORPHA:79324
HP:0003073	Hypoalbuminemia	9451	EIF2AK3	ORPHA:1667
HP:0003073	Hypoalbuminemia	6850	SYK	OMIM:619381
HP:0003073	Hypoalbuminemia	1604	CD55	OMIM:226300
HP:0003073	Hypoalbuminemia	8694	DGAT1	OMIM:615863
HP:0003073	Hypoalbuminemia	1828	DSG1	OMIM:615508
HP:0003073	Hypoalbuminemia	3852	KRT5	ORPHA:79396
HP:0003073	Hypoalbuminemia	3861	KRT14	ORPHA:79396
HP:0003074	Hyperglycemia	6927	HNF1A	OMIM:600496
HP:0003074	Hyperglycemia	6927	HNF1A	ORPHA:552
HP:0003074	Hyperglycemia	6927	HNF1A	OMIM:222100
HP:0003074	Hyperglycemia	3767	KCNJ11	ORPHA:552
HP:0003074	Hyperglycemia	3767	KCNJ11	OMIM:610582
HP:0003074	Hyperglycemia	3767	KCNJ11	OMIM:616329
HP:0003074	Hyperglycemia	3767	KCNJ11	ORPHA:79134
HP:0003074	Hyperglycemia	3767	KCNJ11	ORPHA:99885
HP:0003074	Hyperglycemia	3767	KCNJ11	ORPHA:99886
HP:0003074	Hyperglycemia	3767	KCNJ11	OMIM:618856
HP:0003074	Hyperglycemia	8462	KLF11	ORPHA:552
HP:0003074	Hyperglycemia	2645	GCK	ORPHA:552
HP:0003074	Hyperglycemia	2645	GCK	ORPHA:99885
HP:0003074	Hyperglycemia	2645	GCK	OMIM:606176
HP:0003074	Hyperglycemia	26060	APPL1	ORPHA:552
HP:0003074	Hyperglycemia	640	BLK	ORPHA:552
HP:0003074	Hyperglycemia	1056	CEL	ORPHA:552
HP:0003074	Hyperglycemia	1056	CEL	OMIM:609812
HP:0003074	Hyperglycemia	4760	NEUROD1	ORPHA:552
HP:0003074	Hyperglycemia	3651	PDX1	ORPHA:552
HP:0003074	Hyperglycemia	3651	PDX1	ORPHA:99885
HP:0003074	Hyperglycemia	6833	ABCC8	ORPHA:552
HP:0003074	Hyperglycemia	6833	ABCC8	ORPHA:79134
HP:0003074	Hyperglycemia	6833	ABCC8	ORPHA:99885
HP:0003074	Hyperglycemia	6833	ABCC8	ORPHA:99886
HP:0003074	Hyperglycemia	6833	ABCC8	OMIM:618857
HP:0003074	Hyperglycemia	5078	PAX4	ORPHA:552
HP:0003074	Hyperglycemia	3172	HNF4A	ORPHA:552
HP:0003074	Hyperglycemia	3630	INS	ORPHA:552
HP:0003074	Hyperglycemia	3630	INS	OMIM:613370
HP:0003074	Hyperglycemia	3630	INS	OMIM:616214
HP:0003074	Hyperglycemia	3630	INS	ORPHA:99885
HP:0003074	Hyperglycemia	3630	INS	OMIM:618858
HP:0003074	Hyperglycemia	10128	LRPPRC	OMIM:220111
HP:0003074	Hyperglycemia	3643	INSR	OMIM:262190
HP:0003074	Hyperglycemia	3643	INSR	OMIM:246200
HP:0003074	Hyperglycemia	10269	ZMPSTE24	OMIM:608612
HP:0003074	Hyperglycemia	2737	GLI3	OMIM:175700
HP:0003074	Hyperglycemia	222546	RFX6	OMIM:615710
HP:0003074	Hyperglycemia	3795	KHK	ORPHA:2056
HP:0003074	Hyperglycemia	79798	ARMC5	OMIM:615954
HP:0003074	Hyperglycemia	256297	PTF1A	OMIM:609069
HP:0003074	Hyperglycemia	2627	GATA6	OMIM:600001
HP:0003074	Hyperglycemia	57061	HYMAI	OMIM:601410
HP:0003074	Hyperglycemia	57061	HYMAI	ORPHA:99886
HP:0003074	Hyperglycemia	346171	ZFP57	OMIM:601410
HP:0003074	Hyperglycemia	346171	ZFP57	ORPHA:99886
HP:0003074	Hyperglycemia	27125	AFF4	ORPHA:444077
HP:0003074	Hyperglycemia	5468	PPARG	OMIM:604367
HP:0003074	Hyperglycemia	25970	SH2B1	ORPHA:329249
HP:0003074	Hyperglycemia	5167	ENPP1	OMIM:615522
HP:0003074	Hyperglycemia	4000	LMNA	OMIM:248370
HP:0003074	Hyperglycemia	4000	LMNA	OMIM:151660
HP:0003074	Hyperglycemia	4000	LMNA	ORPHA:79474
HP:0003074	Hyperglycemia	10342	TFG	OMIM:604484
HP:0003074	Hyperglycemia	79731	NARS2	ORPHA:79134
HP:0003074	Hyperglycemia	6774	STAT3	ORPHA:99885
HP:0003074	Hyperglycemia	617	BCS1L	OMIM:124000
HP:0003074	Hyperglycemia	5325	PLAGL1	ORPHA:99886
HP:0003074	Hyperglycemia	38	ACAT1	ORPHA:134
HP:0003074	Hyperglycemia	5295	PIK3R1	OMIM:269880
HP:0003074	Hyperglycemia	6524	SLC5A2	ORPHA:69076
HP:0003074	Hyperglycemia	1537	CYC1	OMIM:615453
HP:0003074	Hyperglycemia	9692	PRORP	OMIM:619737
HP:0003074	Hyperglycemia	9149	DYRK1B	OMIM:615812
HP:0003074	Hyperglycemia	654	BMP6	ORPHA:465508
HP:0003074	Hyperglycemia	3077	HFE	ORPHA:465508
HP:0003074	Hyperglycemia	9699	RIMS2	OMIM:618970
HP:0003074	Hyperglycemia	26191	PTPN22	OMIM:222100
HP:0003074	Hyperglycemia	3710	ITPR3	OMIM:222100
HP:0003074	Hyperglycemia	3569	IL6	OMIM:222100
HP:0003074	Hyperglycemia	27241	BBS9	OMIM:615986
HP:0003074	Hyperglycemia	2998	GYS2	ORPHA:2089
HP:0003074	Hyperglycemia	2998	GYS2	OMIM:240600
HP:0003074	Hyperglycemia	6514	SLC2A2	ORPHA:2088
HP:0003074	Hyperglycemia	6514	SLC2A2	OMIM:227810
HP:0003074	Hyperglycemia	6329	SCN4A	ORPHA:681
HP:0003074	Hyperglycemia	779	CACNA1S	ORPHA:681
HP:0003074	Hyperglycemia	779	CACNA1S	ORPHA:79102
HP:0003074	Hyperglycemia	10008	KCNE3	ORPHA:681
HP:0003074	Hyperglycemia	23729	SHPK	ORPHA:440713
HP:0003074	Hyperglycemia	100134444	KCNJ18	ORPHA:79102
HP:0003074	Hyperglycemia	2556	GABRA3	ORPHA:79102
HP:0003075	Hypoproteinemia	9722	NOS1AP	OMIM:619155
HP:0003075	Hypoproteinemia	54914	FOCAD	OMIM:619991
HP:0003075	Hypoproteinemia	10616	RBCK1	OMIM:615895
HP:0003075	Hypoproteinemia	10165	SLC25A13	ORPHA:247585
HP:0003075	Hypoproteinemia	1798	DPAGT1	OMIM:608093
HP:0003075	Hypoproteinemia	3913	LAMB2	OMIM:609049
HP:0003075	Hypoproteinemia	197131	UBR1	ORPHA:2315
HP:0003075	Hypoproteinemia	1130	LYST	ORPHA:167
HP:0003075	Hypoproteinemia	37	ACADVL	ORPHA:26793
HP:0003075	Hypoproteinemia	64421	DCLRE1C	OMIM:603554
HP:0003075	Hypoproteinemia	5896	RAG1	OMIM:603554
HP:0003075	Hypoproteinemia	5897	RAG2	OMIM:603554
HP:0003075	Hypoproteinemia	5551	PRF1	OMIM:603553
HP:0003075	Hypoproteinemia	213	ALB	ORPHA:86816
HP:0003075	Hypoproteinemia	567	B2M	OMIM:241600
HP:0003075	Hypoproteinemia	1604	CD55	OMIM:226300
HP:0003075	Hypoproteinemia	5651	TMPRSS15	OMIM:226200
HP:0003075	Hypoproteinemia	4868	NPHS1	OMIM:256300
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2072	ERCC4	OMIM:278760
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2072	ERCC4	OMIM:610965
HP:0003079	Defective DNA repair after ultraviolet radiation damage	1643	DDB2	OMIM:278740
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2073	ERCC5	OMIM:278780
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2074	ERCC6	OMIM:278800
HP:0003079	Defective DNA repair after ultraviolet radiation damage	404672	GTF2H5	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	833	CARS1	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2068	ERCC2	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2068	ERCC2	OMIM:278730
HP:0003079	Defective DNA repair after ultraviolet radiation damage	7737	RNF113A	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	136647	MPLKIP	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	6897	TARS1	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2071	ERCC3	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	2961	GTF2E2	ORPHA:33364
HP:0003079	Defective DNA repair after ultraviolet radiation damage	7508	XPC	OMIM:278720
HP:0003079	Defective DNA repair after ultraviolet radiation damage	7507	XPA	OMIM:278700
HP:0003080	Hydroxyprolinuria	4982	TNFRSF11B	OMIM:239000
HP:0003080	Hydroxyprolinuria	8792	TNFRSF11A	OMIM:602080
HP:0003080	Hydroxyprolinuria	8792	TNFRSF11A	OMIM:174810
HP:0003080	Hydroxyprolinuria	153201	SLC36A2	OMIM:242600
HP:0003080	Hydroxyprolinuria	153201	SLC36A2	ORPHA:42062
HP:0003080	Hydroxyprolinuria	5625	PRODH	OMIM:239500
HP:0003080	Hydroxyprolinuria	348932	SLC6A18	ORPHA:42062
HP:0003080	Hydroxyprolinuria	54716	SLC6A20	ORPHA:42062
HP:0003080	Hydroxyprolinuria	340024	SLC6A19	ORPHA:42062
HP:0003080	Hydroxyprolinuria	8659	ALDH4A1	ORPHA:79101
HP:0003080	Hydroxyprolinuria	8659	ALDH4A1	OMIM:239510
HP:0003080	Hydroxyprolinuria	5352	PLOD2	OMIM:609220
HP:0003081	Increased urinary potassium	6557	SLC12A1	OMIM:601678
HP:0003081	Increased urinary potassium	7809	BSND	ORPHA:89938
HP:0003081	Increased urinary potassium	7809	BSND	OMIM:602522
HP:0003081	Increased urinary potassium	1188	CLCNKB	ORPHA:89938
HP:0003081	Increased urinary potassium	1188	CLCNKB	OMIM:613090
HP:0003081	Increased urinary potassium	1188	CLCNKB	OMIM:607364
HP:0003081	Increased urinary potassium	1187	CLCNKA	ORPHA:89938
HP:0003081	Increased urinary potassium	1187	CLCNKA	OMIM:613090
HP:0003081	Increased urinary potassium	3758	KCNJ1	OMIM:241200
HP:0003081	Increased urinary potassium	1962	EHHADH	ORPHA:3337
HP:0003081	Increased urinary potassium	2628	GATM	ORPHA:3337
HP:0003081	Increased urinary potassium	137682	NDUFAF6	ORPHA:3337
HP:0003081	Increased urinary potassium	6569	SLC34A1	ORPHA:3337
HP:0003085	Long fibula	2879	GPX4	ORPHA:93317
HP:0003085	Long fibula	2879	GPX4	OMIM:250220
HP:0003085	Long fibula	4921	DDR2	OMIM:271665
HP:0003085	Long fibula	54187	NANS	OMIM:610442
HP:0003085	Long fibula	633	BGN	OMIM:300106
HP:0003086	Acromesomelia	8200	GDF5	OMIM:200700
HP:0003086	Acromesomelia	8200	GDF5	OMIM:201250
HP:0003086	Acromesomelia	8200	GDF5	ORPHA:968
HP:0003086	Acromesomelia	4882	NPR2	OMIM:602875
HP:0003086	Acromesomelia	4882	NPR2	ORPHA:40
HP:0003086	Acromesomelia	56992	KIF15	ORPHA:261323
HP:0003086	Acromesomelia	5879	RAC1	ORPHA:500159
HP:0003086	Acromesomelia	55768	NGLY1	ORPHA:404454
HP:0003088	Premature osteoarthritis	1302	COL11A2	OMIM:184840
HP:0003088	Premature osteoarthritis	1302	COL11A2	OMIM:215150
HP:0003088	Premature osteoarthritis	3835	KIF22	ORPHA:93360
HP:0003088	Premature osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0003088	Premature osteoarthritis	1277	COL1A1	OMIM:130060
HP:0003088	Premature osteoarthritis	2200	FBN1	OMIM:154700
HP:0003088	Premature osteoarthritis	1836	SLC26A2	ORPHA:93307
HP:0003088	Premature osteoarthritis	65992	DDRGK1	ORPHA:93352
HP:0003088	Premature osteoarthritis	59341	TRPV4	ORPHA:93314
HP:0003088	Premature osteoarthritis	4148	MATN3	ORPHA:93311
HP:0003088	Premature osteoarthritis	4148	MATN3	OMIM:607078
HP:0003088	Premature osteoarthritis	176	ACAN	OMIM:165800
HP:0003089	Hamstring contractures	825	CAPN3	ORPHA:267
HP:0003089	Hamstring contractures	2273	FHL1	OMIM:300696
HP:0003089	Hamstring contractures	57190	SELENON	ORPHA:97244
HP:0003089	Hamstring contractures	58	ACTA1	ORPHA:97244
HP:0003089	Hamstring contractures	1756	DMD	OMIM:310200
HP:0003089	Hamstring contractures	4000	LMNA	OMIM:613205
HP:0003089	Hamstring contractures	4976	OPA1	OMIM:210000
HP:0003089	Hamstring contractures	215	ABCD1	ORPHA:139396
HP:0003089	Hamstring contractures	203859	ANO5	ORPHA:206549
HP:0003091	Trophic limb changes	4914	NTRK1	ORPHA:642
HP:0003095	Septic arthritis	4914	NTRK1	ORPHA:642
HP:0003095	Septic arthritis	695	BTK	OMIM:300755
HP:0003095	Septic arthritis	695	BTK	OMIM:307200
HP:0003095	Septic arthritis	4522	MTHFD1	OMIM:617780
HP:0003095	Septic arthritis	205327	C2orf69	OMIM:619423
HP:0003095	Septic arthritis	4615	MYD88	OMIM:612260
HP:0003095	Septic arthritis	3426	CFI	OMIM:610984
HP:0003095	Septic arthritis	4803	NGF	OMIM:608654
HP:0003099	Fibular overgrowth	65992	DDRGK1	OMIM:602557
HP:0003099	Fibular overgrowth	65992	DDRGK1	ORPHA:93352
HP:0003099	Fibular overgrowth	3549	IHH	OMIM:607778
HP:0003099	Fibular overgrowth	124583	CANT1	OMIM:251450
HP:0410005	Cleft hard palate	9949	AMMECR1	OMIM:300990
HP:0410005	Cleft hard palate	9839	ZEB2	ORPHA:261537
HP:0410005	Cleft hard palate	9839	ZEB2	ORPHA:261552
HP:0410005	Cleft hard palate	8626	TP63	ORPHA:69085
HP:0410008	Abnormality of the peripheral nervous system	2074	ERCC6	OMIM:133540
HP:0410008	Abnormality of the peripheral nervous system	79784	MYH14	ORPHA:397744
HP:0410008	Abnormality of the peripheral nervous system	9131	AIFM1	ORPHA:101078
HP:0410008	Abnormality of the peripheral nervous system	5190	PEX6	OMIM:614863
HP:0410008	Abnormality of the peripheral nervous system	9782	MATR3	OMIM:606070
HP:0410008	Abnormality of the peripheral nervous system	9782	MATR3	ORPHA:600
HP:0410008	Abnormality of the peripheral nervous system	7167	TPI1	ORPHA:868
HP:0410008	Abnormality of the peripheral nervous system	10516	FBLN5	OMIM:608895
HP:0410008	Abnormality of the peripheral nervous system	10743	RAI1	ORPHA:477817
HP:0410008	Abnormality of the peripheral nervous system	5354	PLP1	ORPHA:280234
HP:0410008	Abnormality of the peripheral nervous system	2581	GALC	ORPHA:206443
HP:0410008	Abnormality of the peripheral nervous system	2581	GALC	ORPHA:206436
HP:0410008	Abnormality of the peripheral nervous system	2581	GALC	OMIM:245200
HP:0410008	Abnormality of the peripheral nervous system	6305	SBF1	OMIM:615284
HP:0410008	Abnormality of the peripheral nervous system	23114	NFASC	OMIM:618356
HP:0410008	Abnormality of the peripheral nervous system	25814	ATXN10	OMIM:603516
HP:0410008	Abnormality of the peripheral nervous system	1785	DNM2	OMIM:615368
HP:0410008	Abnormality of the peripheral nervous system	56947	MFF	ORPHA:485421
HP:0410008	Abnormality of the peripheral nervous system	5165	PDK3	ORPHA:352675
HP:0410008	Abnormality of the peripheral nervous system	1130	LYST	OMIM:214500
HP:0410008	Abnormality of the peripheral nervous system	1130	LYST	ORPHA:167
HP:0410008	Abnormality of the peripheral nervous system	4758	NEU1	ORPHA:812
HP:0410008	Abnormality of the peripheral nervous system	3508	IGHMBP2	OMIM:604320
HP:0410008	Abnormality of the peripheral nervous system	540	ATP7B	OMIM:277900
HP:0410008	Abnormality of the peripheral nervous system	6663	SOX10	OMIM:609136
HP:0410008	Abnormality of the peripheral nervous system	1161	ERCC8	OMIM:216400
HP:0410008	Abnormality of the peripheral nervous system	10166	SLC25A15	OMIM:238970
HP:0410008	Abnormality of the peripheral nervous system	87178	PNPT1	ORPHA:319514
HP:0410008	Abnormality of the peripheral nervous system	87178	PNPT1	OMIM:614932
HP:0410008	Abnormality of the peripheral nervous system	219285	SAMD9L	OMIM:159550
HP:0410008	Abnormality of the peripheral nervous system	84340	GFM2	ORPHA:565624
HP:0410008	Abnormality of the peripheral nervous system	3295	HSD17B4	OMIM:261515
HP:0410008	Abnormality of the peripheral nervous system	9639	ARHGEF10	OMIM:608236
HP:0410008	Abnormality of the peripheral nervous system	2200	FBN1	ORPHA:969
HP:0410008	Abnormality of the peripheral nervous system	4054	LTBP3	ORPHA:969
HP:0410008	Abnormality of the peripheral nervous system	54463	RETREG1	OMIM:201300
HP:0410008	Abnormality of the peripheral nervous system	65125	WNK1	OMIM:201300
HP:0410008	Abnormality of the peripheral nervous system	6335	SCN9A	OMIM:201300
HP:0410008	Abnormality of the peripheral nervous system	547	KIF1A	OMIM:201300
HP:0410008	Abnormality of the peripheral nervous system	8398	PLA2G6	OMIM:256600
HP:0410008	Abnormality of the peripheral nervous system	26090	ABHD12	OMIM:612674
HP:0410008	Abnormality of the peripheral nervous system	2071	ERCC3	OMIM:610651
HP:0410008	Abnormality of the peripheral nervous system	3908	LAMA2	OMIM:618138
HP:0410008	Abnormality of the peripheral nervous system	8803	SUCLA2	ORPHA:1933
HP:0410008	Abnormality of the peripheral nervous system	1534	CYB561	OMIM:618182
HP:0410008	Abnormality of the peripheral nervous system	8518	ELP1	OMIM:223900
HP:0410008	Abnormality of the peripheral nervous system	8518	ELP1	ORPHA:1764
HP:0410008	Abnormality of the peripheral nervous system	1621	DBH	ORPHA:230
HP:0410008	Abnormality of the peripheral nervous system	1621	DBH	OMIM:223360
HP:0410008	Abnormality of the peripheral nervous system	1136	CHRNA3	OMIM:191800
HP:0410008	Abnormality of the peripheral nervous system	29926	GMPPA	OMIM:615510
HP:0410008	Abnormality of the peripheral nervous system	1585	CYP11B2	OMIM:610600
HP:0410008	Abnormality of the peripheral nervous system	1585	CYP11B2	ORPHA:556030
HP:0410008	Abnormality of the peripheral nervous system	538	ATP7A	OMIM:304150
HP:0410008	Abnormality of the peripheral nervous system	8086	AAAS	OMIM:231550
HP:0410008	Abnormality of the peripheral nervous system	1277	COL1A1	ORPHA:287
HP:0410008	Abnormality of the peripheral nervous system	1289	COL5A1	ORPHA:287
HP:0410008	Abnormality of the peripheral nervous system	1290	COL5A2	ORPHA:287
HP:0410008	Abnormality of the peripheral nervous system	2632	GBE1	OMIM:263570
HP:0410008	Abnormality of the peripheral nervous system	857	CAV1	OMIM:606721
HP:0410008	Abnormality of the peripheral nervous system	3594	IL12RB1	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	23534	TNPO3	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	3592	IL12A	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	6689	SPIB	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	5450	POU2AF1	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	9966	TNFSF15	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	79258	MMEL1	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	3663	IRF5	ORPHA:186
HP:0410008	Abnormality of the peripheral nervous system	3074	HEXB	OMIM:268800
HP:0410008	Abnormality of the peripheral nervous system	51142	CHCHD2	OMIM:616710
HP:0410008	Abnormality of the peripheral nervous system	80208	SPG11	ORPHA:2822
HP:0410008	Abnormality of the peripheral nervous system	10501	SEMA6B	OMIM:618876
HP:0410008	Abnormality of the peripheral nervous system	378884	NHLRC1	ORPHA:501
HP:0410008	Abnormality of the peripheral nervous system	7957	EPM2A	ORPHA:501
HP:0410008	Abnormality of the peripheral nervous system	401474	SAMD12	OMIM:601068
HP:0410008	Abnormality of the peripheral nervous system	55689	YEATS2	OMIM:615127
HP:0410008	Abnormality of the peripheral nervous system	56910	STARD7	OMIM:607876
HP:0410008	Abnormality of the peripheral nervous system	10299	MARCHF6	OMIM:613608
HP:0410008	Abnormality of the peripheral nervous system	79600	TCTN1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	79848	CSPP1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	51684	SUFU	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	54806	AHI1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	54806	AHI1	ORPHA:220493
HP:0410008	Abnormality of the peripheral nervous system	153241	CEP120	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	153241	CEP120	ORPHA:220493
HP:0410008	Abnormality of the peripheral nervous system	91147	TMEM67	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	200894	ARL13B	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	9731	CEP104	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	219844	HYLS1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	23247	KATNIP	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	219854	TMEM218	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	54903	MKS1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	54903	MKS1	ORPHA:220493
HP:0410008	Abnormality of the peripheral nervous system	95681	CEP41	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	95681	CEP41	ORPHA:220493
HP:0410008	Abnormality of the peripheral nervous system	9786	KIAA0586	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	56623	INPP5E	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	56623	INPP5E	ORPHA:220493
HP:0410008	Abnormality of the peripheral nervous system	79867	TCTN2	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	80776	B9D2	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	10464	PIBF1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	80210	ARMC9	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	23116	TOGARAM1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	25776	CBY1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	27077	B9D1	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	403	ARL3	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	65062	TMEM237	ORPHA:475
HP:0410008	Abnormality of the peripheral nervous system	65062	TMEM237	ORPHA:220497
HP:0410008	Abnormality of the peripheral nervous system	65062	TMEM237	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	25970	SH2B1	ORPHA:261222
HP:0410008	Abnormality of the peripheral nervous system	6535	SLC6A8	OMIM:300352
HP:0410008	Abnormality of the peripheral nervous system	6535	SLC6A8	ORPHA:52503
HP:0410008	Abnormality of the peripheral nervous system	10262	SF3B4	OMIM:154400
HP:0410008	Abnormality of the peripheral nervous system	8260	NAA10	OMIM:309800
HP:0410008	Abnormality of the peripheral nervous system	54880	BCOR	OMIM:309800
HP:0410008	Abnormality of the peripheral nervous system	26128	KIFBP	OMIM:609460
HP:0410008	Abnormality of the peripheral nervous system	26128	KIFBP	ORPHA:66629
HP:0410008	Abnormality of the peripheral nervous system	6023	RMRP	OMIM:250250
HP:0410008	Abnormality of the peripheral nervous system	6023	RMRP	ORPHA:175
HP:0410008	Abnormality of the peripheral nervous system	23556	PIGN	ORPHA:2059
HP:0410008	Abnormality of the peripheral nervous system	8195	MKKS	OMIM:236700
HP:0410008	Abnormality of the peripheral nervous system	8195	MKKS	ORPHA:2473
HP:0410008	Abnormality of the peripheral nervous system	84720	PIGO	OMIM:614749
HP:0410008	Abnormality of the peripheral nervous system	84720	PIGO	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	57167	SALL4	OMIM:607323
HP:0410008	Abnormality of the peripheral nervous system	57167	SALL4	ORPHA:959
HP:0410008	Abnormality of the peripheral nervous system	6925	TCF4	ORPHA:2896
HP:0410008	Abnormality of the peripheral nervous system	64324	NSD1	ORPHA:821
HP:0410008	Abnormality of the peripheral nervous system	29072	SETD2	ORPHA:821
HP:0410008	Abnormality of the peripheral nervous system	10297	APC2	ORPHA:821
HP:0410008	Abnormality of the peripheral nervous system	6608	SMO	ORPHA:388
HP:0410008	Abnormality of the peripheral nervous system	6720	SREBF1	ORPHA:388
HP:0410008	Abnormality of the peripheral nervous system	223117	SEMA3D	ORPHA:388
HP:0410008	Abnormality of the peripheral nervous system	10512	SEMA3C	ORPHA:388
HP:0410008	Abnormality of the peripheral nervous system	4902	NRTN	ORPHA:388
HP:0410008	Abnormality of the peripheral nervous system	51360	MBTPS2	OMIM:308205
HP:0410008	Abnormality of the peripheral nervous system	51360	MBTPS2	ORPHA:2273
HP:0410008	Abnormality of the peripheral nervous system	51360	MBTPS2	ORPHA:85284
HP:0410008	Abnormality of the peripheral nervous system	83479	DDX59	ORPHA:2919
HP:0410008	Abnormality of the peripheral nervous system	83479	DDX59	OMIM:174300
HP:0410008	Abnormality of the peripheral nervous system	2623	GATA1	OMIM:190685
HP:0410008	Abnormality of the peripheral nervous system	23322	RPGRIP1L	ORPHA:220497
HP:0410008	Abnormality of the peripheral nervous system	4867	NPHP1	ORPHA:220497
HP:0410008	Abnormality of the peripheral nervous system	3845	KRAS	ORPHA:3339
HP:0410008	Abnormality of the peripheral nervous system	72	ACTG2	ORPHA:2604
HP:0410008	Abnormality of the peripheral nervous system	72	ACTG2	OMIM:155310
HP:0410008	Abnormality of the peripheral nervous system	1717	DHCR7	ORPHA:818
HP:0410008	Abnormality of the peripheral nervous system	1717	DHCR7	OMIM:270400
HP:0410008	Abnormality of the peripheral nervous system	4286	MITF	ORPHA:897
HP:0410008	Abnormality of the peripheral nervous system	4286	MITF	ORPHA:895
HP:0410008	Abnormality of the peripheral nervous system	6591	SNAI2	ORPHA:2884
HP:0410008	Abnormality of the peripheral nervous system	6591	SNAI2	ORPHA:895
HP:0410008	Abnormality of the peripheral nervous system	3815	KIT	ORPHA:2884
HP:0410008	Abnormality of the peripheral nervous system	3815	KIT	OMIM:172800
HP:0410008	Abnormality of the peripheral nervous system	55650	PIGV	OMIM:239300
HP:0410008	Abnormality of the peripheral nervous system	55650	PIGV	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	7846	TUBA1A	ORPHA:171680
HP:0410008	Abnormality of the peripheral nervous system	170302	ARX	ORPHA:452
HP:0410008	Abnormality of the peripheral nervous system	7299	TYR	ORPHA:895
HP:0410008	Abnormality of the peripheral nervous system	4254	KITLG	ORPHA:895
HP:0410008	Abnormality of the peripheral nervous system	5077	PAX3	ORPHA:894
HP:0410008	Abnormality of the peripheral nervous system	5077	PAX3	OMIM:148820
HP:0410008	Abnormality of the peripheral nervous system	84992	PIGY	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	93210	PGAP3	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	284098	PIGW	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	27315	PGAP2	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	27315	PGAP2	OMIM:614207
HP:0410008	Abnormality of the peripheral nervous system	9487	PIGL	ORPHA:247262
HP:0410008	Abnormality of the peripheral nervous system	84100	ARL6	OMIM:209900
HP:0410008	Abnormality of the peripheral nervous system	79140	CCDC28B	OMIM:209900
HP:0410008	Abnormality of the peripheral nervous system	582	BBS1	OMIM:209900
HP:0410008	Abnormality of the peripheral nervous system	672	BRCA1	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	10459	MAD2L2	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	7516	XRCC2	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	29089	UBE2T	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	675	BRCA2	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	55120	FANCL	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2177	FANCD2	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2175	FANCA	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2187	FANCB	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2176	FANCC	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2178	FANCE	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2188	FANCF	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	2189	FANCG	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	5888	RAD51	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	5889	RAD51C	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	55159	RFWD3	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	83990	BRIP1	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	57697	FANCM	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	79728	PALB2	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	84464	SLX4	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	55215	FANCI	ORPHA:84
HP:0410008	Abnormality of the peripheral nervous system	546	ATRX	ORPHA:847
HP:0410008	Abnormality of the peripheral nervous system	1312	COMT	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	221037	JMJD1C	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	2812	GP1BB	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	6239	RREB1	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	6899	TBX1	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	7290	HIRA	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	9632	SEC24C	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	7353	UFD1	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	421	ARVCF	ORPHA:567
HP:0410008	Abnormality of the peripheral nervous system	79583	TMEM231	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	51524	TMEM138	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	23090	ZNF423	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	80184	CEP290	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	51259	TMEM216	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	57545	CC2D2A	ORPHA:2318
HP:0410008	Abnormality of the peripheral nervous system	2294	FOXF1	ORPHA:210122
HP:0410008	Abnormality of the peripheral nervous system	3897	L1CAM	OMIM:304100
HP:0410008	Abnormality of the peripheral nervous system	3897	L1CAM	ORPHA:1497
HP:0410008	Abnormality of the peripheral nervous system	26040	SETBP1	ORPHA:798
HP:0410008	Abnormality of the peripheral nervous system	1908	EDN3	ORPHA:661
HP:0410008	Abnormality of the peripheral nervous system	2668	GDNF	ORPHA:661
HP:0410008	Abnormality of the peripheral nervous system	627	BDNF	ORPHA:661
HP:0410008	Abnormality of the peripheral nervous system	283446	MYO1H	ORPHA:661
HP:0410008	Abnormality of the peripheral nervous system	8929	PHOX2B	ORPHA:661
HP:0410008	Abnormality of the peripheral nervous system	4914	NTRK1	ORPHA:642
HP:0410008	Abnormality of the peripheral nervous system	2260	FGFR1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	2260	FGFR1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	28514	DLL1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	28514	DLL1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	28514	DLL1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	28514	DLL1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	10735	STAG2	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	10735	STAG2	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	2253	FGF8	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	2253	FGF8	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	2253	FGF8	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	2253	FGF8	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	8243	SMC1A	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	6496	SIX3	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	6496	SIX3	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	6496	SIX3	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	6496	SIX3	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	7050	TGIF1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	7050	TGIF1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	7050	TGIF1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	7050	TGIF1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	4838	NODAL	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	4838	NODAL	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	4838	NODAL	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	4838	NODAL	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	6469	SHH	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	6469	SHH	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	6469	SHH	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	6469	SHH	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	7546	ZIC2	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	7546	ZIC2	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	7546	ZIC2	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	7546	ZIC2	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	6491	STIL	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	6491	STIL	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	6491	STIL	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	6491	STIL	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	2619	GAS1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	2619	GAS1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	2619	GAS1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	2619	GAS1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	84976	DISP1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	84976	DISP1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	84976	DISP1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	84976	DISP1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	2736	GLI2	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	2736	GLI2	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	2736	GLI2	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	2736	GLI2	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	8928	FOXH1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	8928	FOXH1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	8928	FOXH1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	8928	FOXH1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	5727	PTCH1	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	5727	PTCH1	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	5727	PTCH1	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	5727	PTCH1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	50937	CDON	ORPHA:220386
HP:0410008	Abnormality of the peripheral nervous system	50937	CDON	ORPHA:93926
HP:0410008	Abnormality of the peripheral nervous system	50937	CDON	ORPHA:93924
HP:0410008	Abnormality of the peripheral nervous system	50937	CDON	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	5885	RAD21	OMIM:611376
HP:0410008	Abnormality of the peripheral nervous system	56652	TWNK	ORPHA:1186
HP:0410008	Abnormality of the peripheral nervous system	23007	PLCH1	ORPHA:93925
HP:0410008	Abnormality of the peripheral nervous system	2645	GCK	ORPHA:79299
HP:0410008	Abnormality of the peripheral nervous system	25923	ATL3	ORPHA:36386
HP:0410008	Abnormality of the peripheral nervous system	51062	ATL1	ORPHA:36386
HP:0410008	Abnormality of the peripheral nervous system	285362	SUMF1	ORPHA:585
HP:0410008	Abnormality of the peripheral nervous system	51324	SPG21	ORPHA:101001
HP:0410008	Abnormality of the peripheral nervous system	65250	CPLANE1	ORPHA:65684
HP:0410008	Abnormality of the peripheral nervous system	57562	CEP126	ORPHA:65684
HP:0410008	Abnormality of the peripheral nervous system	9342	SNAP29	ORPHA:66631
HP:0410008	Abnormality of the peripheral nervous system	100134444	KCNJ18	ORPHA:79102
HP:0410008	Abnormality of the peripheral nervous system	2556	GABRA3	ORPHA:79102
HP:0410008	Abnormality of the peripheral nervous system	779	CACNA1S	ORPHA:79102
HP:0410008	Abnormality of the peripheral nervous system	50846	DHH	ORPHA:168563
HP:0410008	Abnormality of the peripheral nervous system	2072	ERCC4	ORPHA:90321
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	OMIM:162500
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	OMIM:118300
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	OMIM:118220
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	OMIM:180800
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	ORPHA:640
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	OMIM:145900
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	ORPHA:3115
HP:0410008	Abnormality of the peripheral nervous system	5376	PMP22	ORPHA:101081
HP:0410008	Abnormality of the peripheral nervous system	4359	MPZ	OMIM:618184
HP:0410008	Abnormality of the peripheral nervous system	4359	MPZ	OMIM:180800
HP:0410008	Abnormality of the peripheral nervous system	4359	MPZ	OMIM:118200
HP:0410008	Abnormality of the peripheral nervous system	4359	MPZ	OMIM:145900
HP:0410008	Abnormality of the peripheral nervous system	4359	MPZ	ORPHA:3115
HP:0410008	Abnormality of the peripheral nervous system	4000	LMNA	OMIM:605588
HP:0410008	Abnormality of the peripheral nervous system	4000	LMNA	ORPHA:98856
HP:0410008	Abnormality of the peripheral nervous system	11284	PNKP	OMIM:605589
HP:0410008	Abnormality of the peripheral nervous system	81857	MED25	OMIM:605589
HP:0410008	Abnormality of the peripheral nervous system	7384	UQCRC1	OMIM:619279
HP:0410008	Abnormality of the peripheral nervous system	8506	CNTNAP1	OMIM:618186
HP:0410008	Abnormality of the peripheral nervous system	22948	CCT5	ORPHA:139578
HP:0410008	Abnormality of the peripheral nervous system	22948	CCT5	OMIM:256840
HP:0410008	Abnormality of the peripheral nervous system	22880	MORC2	OMIM:616688
HP:0410008	Abnormality of the peripheral nervous system	7415	VCP	OMIM:616687
HP:0410008	Abnormality of the peripheral nervous system	9927	MFN2	OMIM:609260
HP:0410008	Abnormality of the peripheral nervous system	9927	MFN2	OMIM:601152
HP:0410008	Abnormality of the peripheral nervous system	50717	DCAF8	OMIM:610100
HP:0410008	Abnormality of the peripheral nervous system	4747	NEFL	OMIM:607684
HP:0410008	Abnormality of the peripheral nervous system	4747	NEFL	OMIM:607734
HP:0410008	Abnormality of the peripheral nervous system	3315	HSPB1	OMIM:606595
HP:0410008	Abnormality of the peripheral nervous system	9990	SLC12A6	OMIM:620068
HP:0410008	Abnormality of the peripheral nervous system	9990	SLC12A6	OMIM:218000
HP:0410008	Abnormality of the peripheral nervous system	8898	MTMR2	OMIM:601382
HP:0410008	Abnormality of the peripheral nervous system	7879	RAB7A	OMIM:600882
HP:0410008	Abnormality of the peripheral nervous system	57165	GJC2	OMIM:608804
HP:0410008	Abnormality of the peripheral nervous system	1959	EGR2	OMIM:607678
HP:0410008	Abnormality of the peripheral nervous system	1959	EGR2	OMIM:605253
HP:0410008	Abnormality of the peripheral nervous system	1959	EGR2	OMIM:145900
HP:0410008	Abnormality of the peripheral nervous system	9150	CTDP1	OMIM:604168
HP:0410008	Abnormality of the peripheral nervous system	54332	GDAP1	OMIM:607831
HP:0410008	Abnormality of the peripheral nervous system	54332	GDAP1	OMIM:607706
HP:0410008	Abnormality of the peripheral nervous system	54332	GDAP1	OMIM:214400
HP:0410008	Abnormality of the peripheral nervous system	56704	JPH1	OMIM:607831
HP:0410008	Abnormality of the peripheral nervous system	23095	KIF1B	OMIM:118210
HP:0410008	Abnormality of the peripheral nervous system	6652	SORD	OMIM:618912
HP:0410008	Abnormality of the peripheral nervous system	65055	REEP1	OMIM:614751
HP:0410008	Abnormality of the peripheral nervous system	90678	LRSAM1	OMIM:614436
HP:0410008	Abnormality of the peripheral nervous system	3710	ITPR3	OMIM:620111
HP:0410008	Abnormality of the peripheral nervous system	81846	SBF2	OMIM:604563
HP:0410008	Abnormality of the peripheral nervous system	8565	YARS1	OMIM:608323
HP:0410008	Abnormality of the peripheral nervous system	9516	LITAF	OMIM:601098
HP:0410008	Abnormality of the peripheral nervous system	26278	SACS	OMIM:270550
HP:0410008	Abnormality of the peripheral nervous system	100996717	NOTCH2NLC	OMIM:603472
HP:0410008	Abnormality of the peripheral nervous system	5428	POLG	ORPHA:298
HP:0410008	Abnormality of the peripheral nervous system	1890	TYMP	ORPHA:298
HP:0410008	Abnormality of the peripheral nervous system	3980	LIG3	ORPHA:298
HP:0410008	Abnormality of the peripheral nervous system	50484	RRM2B	ORPHA:298
HP:0410008	Abnormality of the peripheral nervous system	10558	SPTLC1	OMIM:162400
HP:0410008	Abnormality of the peripheral nervous system	10280	SIGMAR1	OMIM:605726
HP:0410008	Abnormality of the peripheral nervous system	23250	ATP11A	OMIM:619851
HP:0410008	Abnormality of the peripheral nervous system	23321	TRIM2	OMIM:615490
HP:0410008	Abnormality of the peripheral nervous system	57449	PLEKHG5	OMIM:615376
HP:0410008	Abnormality of the peripheral nervous system	81545	FBXO38	OMIM:615575
HP:0410008	Abnormality of the peripheral nervous system	5631	PRPS1	ORPHA:1187
HP:0410008	Abnormality of the peripheral nervous system	259232	NALCN	OMIM:615419
HP:0410008	Abnormality of the peripheral nervous system	26580	BSCL2	OMIM:270685
HP:0410008	Abnormality of the peripheral nervous system	3098	HK1	ORPHA:99953
HP:0410008	Abnormality of the peripheral nervous system	3098	HK1	OMIM:605285
HP:0410008	Abnormality of the peripheral nervous system	79628	SH3TC2	OMIM:601596
HP:0410008	Abnormality of the peripheral nervous system	79628	SH3TC2	ORPHA:99949
HP:0410008	Abnormality of the peripheral nervous system	10397	NDRG1	ORPHA:99950
HP:0410008	Abnormality of the peripheral nervous system	5611	DNAJC3	OMIM:616192
HP:0410008	Abnormality of the peripheral nervous system	51651	PTRH2	ORPHA:456312
HP:0410008	Abnormality of the peripheral nervous system	84842	HPDL	OMIM:619026
HP:0410008	Abnormality of the peripheral nervous system	2705	GJB1	OMIM:302800
HP:0410008	Abnormality of the peripheral nervous system	9517	SPTLC2	OMIM:613640
HP:0410008	Abnormality of the peripheral nervous system	57716	PRX	OMIM:614895
HP:0410008	Abnormality of the peripheral nervous system	57716	PRX	OMIM:145900
HP:0410008	Abnormality of the peripheral nervous system	16	AARS1	OMIM:613287
HP:0410008	Abnormality of the peripheral nervous system	128637	TBC1D20	OMIM:615663
HP:0410008	Abnormality of the peripheral nervous system	55775	TDP1	OMIM:607250
HP:0410008	Abnormality of the peripheral nervous system	84668	HYCC1	OMIM:610532
HP:0410008	Abnormality of the peripheral nervous system	23064	SETX	OMIM:606002
HP:0410008	Abnormality of the peripheral nervous system	9896	FIG4	OMIM:611228
HP:0410008	Abnormality of the peripheral nervous system	6342	SCP2	OMIM:613724
HP:0410008	Abnormality of the peripheral nervous system	2395	FXN	ORPHA:95
HP:0410008	Abnormality of the peripheral nervous system	6310	ATXN1	OMIM:164400
HP:0410008	Abnormality of the peripheral nervous system	121512	FGD4	OMIM:609311
HP:0410008	Abnormality of the peripheral nervous system	55768	NGLY1	OMIM:615273
HP:0410008	Abnormality of the peripheral nervous system	91574	MTRFR	ORPHA:320375
HP:0410008	Abnormality of the peripheral nervous system	10730	YME1L1	OMIM:617302
HP:0410008	Abnormality of the peripheral nervous system	5979	RET	OMIM:142623
HP:0410008	Abnormality of the peripheral nervous system	9839	ZEB2	OMIM:235730
HP:0410008	Abnormality of the peripheral nervous system	1678	TIMM8A	ORPHA:52368
HP:0410008	Abnormality of the peripheral nervous system	9750	RIPOR2	OMIM:616515
HP:0410008	Abnormality of the peripheral nervous system	9381	OTOF	OMIM:601071
HP:0410008	Abnormality of the peripheral nervous system	7841	MOGS	ORPHA:79330
HP:0410008	Abnormality of the peripheral nervous system	57731	SPTBN4	OMIM:617519
HP:0410008	Abnormality of the peripheral nervous system	4976	OPA1	ORPHA:1215
HP:0410008	Abnormality of the peripheral nervous system	51501	HIKESHI	OMIM:616881
HP:0410008	Abnormality of the peripheral nervous system	410	ARSA	ORPHA:309271
HP:0410008	Abnormality of the peripheral nervous system	5660	PSAP	ORPHA:309271
HP:0410008	Abnormality of the peripheral nervous system	2934	GSN	ORPHA:85448
HP:0410008	Abnormality of the peripheral nervous system	3953	LEPR	ORPHA:179494
HP:0410008	Abnormality of the peripheral nervous system	2629	GBA1	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	23317	DNAJC13	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	1981	EIF4G1	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	55737	VPS35	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	120892	LRRK2	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	26058	GIGYF2	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	6622	SNCA	ORPHA:411602
HP:0410008	Abnormality of the peripheral nervous system	3952	LEP	ORPHA:66628
HP:0410008	Abnormality of the peripheral nervous system	7276	TTR	OMIM:105210
HP:0410008	Abnormality of the peripheral nervous system	11128	POLR3A	ORPHA:447896
HP:0410008	Abnormality of the peripheral nervous system	2783	GNB2	OMIM:619503
HP:0410008	Abnormality of the peripheral nervous system	84570	COL25A1	ORPHA:91411
HP:0410008	Abnormality of the peripheral nervous system	79776	ZFHX4	ORPHA:91411
HP:0410008	Abnormality of the peripheral nervous system	10682	EBP	ORPHA:401973
HP:0410008	Abnormality of the peripheral nervous system	64802	NMNAT1	OMIM:619260
HP:0410008	Abnormality of the peripheral nervous system	1910	EDNRB	OMIM:600501
HP:0410008	Abnormality of the peripheral nervous system	81624	DIAPH3	OMIM:609129
HP:0410008	Abnormality of the peripheral nervous system	4621	MYH3	OMIM:193700
HP:0410008	Abnormality of the peripheral nervous system	9181	ARHGEF2	OMIM:617523
HP:0410008	Abnormality of the peripheral nervous system	23230	VPS13A	ORPHA:2388
HP:0410008	Abnormality of the peripheral nervous system	8449	DHX16	OMIM:618733
HP:0410008	Abnormality of the peripheral nervous system	26353	HSPB8	OMIM:608673
HP:0410008	Abnormality of the peripheral nervous system	57465	TBC1D24	OMIM:608105
HP:0410008	Abnormality of the peripheral nervous system	57465	TBC1D24	ORPHA:163727
HP:0410008	Abnormality of the peripheral nervous system	59341	TRPV4	OMIM:606071
HP:0410008	Abnormality of the peripheral nervous system	5981	RFC1	OMIM:614575
HP:0410008	Abnormality of the peripheral nervous system	4358	MPV17	OMIM:618400
HP:0410008	Abnormality of the peripheral nervous system	27235	COQ2	ORPHA:227510
HP:0410008	Abnormality of the peripheral nervous system	27235	COQ2	ORPHA:98933
HP:0410008	Abnormality of the peripheral nervous system	4001	LMNB1	OMIM:169500
HP:0410008	Abnormality of the peripheral nervous system	2064	ERBB2	OMIM:619465
HP:0410008	Abnormality of the peripheral nervous system	6530	SLC6A2	OMIM:604715
HP:0410008	Abnormality of the peripheral nervous system	5621	PRNP	ORPHA:282166
HP:0410008	Abnormality of the peripheral nervous system	5621	PRNP	OMIM:600072
HP:0410008	Abnormality of the peripheral nervous system	4287	ATXN3	OMIM:109150
HP:0410008	Abnormality of the peripheral nervous system	6492	SIM1	ORPHA:369873
HP:0410008	Abnormality of the peripheral nervous system	11280	SCN11A	OMIM:615552
HP:0410008	Abnormality of the peripheral nervous system	11280	SCN11A	OMIM:615548
HP:0410008	Abnormality of the peripheral nervous system	55823	VPS11	OMIM:616683
HP:0410008	Abnormality of the peripheral nervous system	55823	VPS11	ORPHA:466934
HP:0410008	Abnormality of the peripheral nervous system	54832	VPS13C	OMIM:616840
HP:0410008	Abnormality of the peripheral nervous system	54832	VPS13C	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	6328	SCN3A	OMIM:617935
HP:0410008	Abnormality of the peripheral nervous system	773	CACNA1A	ORPHA:2131
HP:0410008	Abnormality of the peripheral nervous system	6507	SLC1A3	ORPHA:2131
HP:0410008	Abnormality of the peripheral nervous system	477	ATP1A2	ORPHA:2131
HP:0410008	Abnormality of the peripheral nervous system	478	ATP1A3	ORPHA:2131
HP:0410008	Abnormality of the peripheral nervous system	23345	SYNE1	OMIM:610743
HP:0410008	Abnormality of the peripheral nervous system	493856	CISD2	ORPHA:3463
HP:0410008	Abnormality of the peripheral nervous system	7466	WFS1	ORPHA:3463
HP:0410008	Abnormality of the peripheral nervous system	2670	GFAP	ORPHA:363722
HP:0410008	Abnormality of the peripheral nervous system	25828	TXN2	ORPHA:478029
HP:0410008	Abnormality of the peripheral nervous system	9568	GABBR2	OMIM:617903
HP:0410008	Abnormality of the peripheral nervous system	11152	WDR45	ORPHA:329284
HP:0410008	Abnormality of the peripheral nervous system	11152	WDR45	OMIM:300894
HP:0410008	Abnormality of the peripheral nervous system	429	ASCL1	ORPHA:99803
HP:0410008	Abnormality of the peripheral nervous system	4204	MECP2	ORPHA:778
HP:0410008	Abnormality of the peripheral nervous system	801	CALM1	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	3753	KCNE1	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	3762	KCNJ5	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	805	CALM2	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	6910	TBX5	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	6336	SCN10A	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	3757	KCNH2	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	9992	KCNE2	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	10142	AKAP9	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	9722	NOS1AP	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	775	CACNA1C	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	3784	KCNQ1	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	10345	TRDN	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	6331	SCN5A	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	6330	SCN4B	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	808	CALM3	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	6640	SNTA1	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	859	CAV3	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	287	ANK2	ORPHA:101016
HP:0410008	Abnormality of the peripheral nervous system	7259	TSPYL1	ORPHA:168593
HP:0410008	Abnormality of the peripheral nervous system	51	ACOX1	OMIM:618960
HP:0410008	Abnormality of the peripheral nervous system	6571	SLC18A2	OMIM:618049
HP:0410008	Abnormality of the peripheral nervous system	2717	GLA	OMIM:301500
HP:0410008	Abnormality of the peripheral nervous system	3977	LIFR	ORPHA:3206
HP:0410008	Abnormality of the peripheral nervous system	3977	LIFR	OMIM:601559
HP:0410008	Abnormality of the peripheral nervous system	1889	ECE1	OMIM:613870
HP:0410008	Abnormality of the peripheral nervous system	10381	TUBB3	ORPHA:300570
HP:0410008	Abnormality of the peripheral nervous system	2332	FMR1	ORPHA:93256
HP:0410008	Abnormality of the peripheral nervous system	5649	RELN	ORPHA:101046
HP:0410008	Abnormality of the peripheral nervous system	9211	LGI1	ORPHA:101046
HP:0410008	Abnormality of the peripheral nervous system	9681	DEPDC5	ORPHA:101046
HP:0410008	Abnormality of the peripheral nervous system	25793	FBXO7	ORPHA:171695
HP:0410008	Abnormality of the peripheral nervous system	221927	BRAT1	OMIM:614498
HP:0410008	Abnormality of the peripheral nervous system	2065	ERBB3	OMIM:243180
HP:0410008	Abnormality of the peripheral nervous system	11315	PARK7	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	7345	UCHL1	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	27429	HTRA2	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	9829	DNAJC6	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	5420	PODXL	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	65018	PINK1	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	8867	SYNJ1	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	5071	PRKN	ORPHA:2828
HP:0410008	Abnormality of the peripheral nervous system	2747	GLUD2	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	126	ADH1C	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	4137	MAPT	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	4929	NR4A2	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	6908	TBP	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	4576	MT-TT	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	9627	SNCAIP	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	6311	ATXN2	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	6315	ATXN8OS	OMIM:168600
HP:0410008	Abnormality of the peripheral nervous system	5498	PPOX	ORPHA:79473
HP:0410008	Abnormality of the peripheral nervous system	567	B2M	ORPHA:314652
HP:0410008	Abnormality of the peripheral nervous system	10342	TFG	ORPHA:90117
HP:0410008	Abnormality of the peripheral nervous system	4884	NPTX1	OMIM:620158
HP:0410008	Abnormality of the peripheral nervous system	10049	DNAJB6	OMIM:603511
HP:0410008	Abnormality of the peripheral nervous system	11117	EMILIN1	OMIM:620080
HP:0410008	Abnormality of the peripheral nervous system	6843	VAMP1	OMIM:618323
HP:0410008	Abnormality of the peripheral nervous system	5375	PMP2	OMIM:618279
HP:0410008	Abnormality of the peripheral nervous system	127833	SYT2	OMIM:616040
HP:0410008	Abnormality of the peripheral nervous system	7317	UBA1	OMIM:301830
HP:0410008	Abnormality of the peripheral nervous system	57863	CADM3	OMIM:619519
HP:0410008	Abnormality of the peripheral nervous system	3735	KARS1	OMIM:613641
HP:0410008	Abnormality of the peripheral nervous system	57679	ALS2	OMIM:606353
HP:0410008	Abnormality of the peripheral nervous system	1311	COMP	OMIM:619161
HP:0410008	Abnormality of the peripheral nervous system	3094	HINT1	OMIM:137200
HP:0410008	Abnormality of the peripheral nervous system	3425	IDUA	ORPHA:93474
HP:0410008	Abnormality of the peripheral nervous system	3425	IDUA	ORPHA:93473
HP:0410008	Abnormality of the peripheral nervous system	3425	IDUA	ORPHA:93476
HP:0410008	Abnormality of the peripheral nervous system	10935	PRDX3	OMIM:619862
HP:0410008	Abnormality of the peripheral nervous system	84466	MEGF10	OMIM:614399
HP:0410008	Abnormality of the peripheral nervous system	60482	SLC5A7	OMIM:158580
HP:0410008	Abnormality of the peripheral nervous system	2617	GARS1	ORPHA:139536
HP:0410008	Abnormality of the peripheral nervous system	8560	DEGS1	OMIM:618404
HP:0410008	Abnormality of the peripheral nervous system	400916	CHCHD10	ORPHA:276435
HP:0410008	Abnormality of the peripheral nervous system	28982	FLVCR1	ORPHA:88628
HP:0410008	Abnormality of the peripheral nervous system	5351	PLOD1	ORPHA:1900
HP:0410008	Abnormality of the peripheral nervous system	8291	DYSF	ORPHA:268
HP:0410008	Abnormality of the peripheral nervous system	10801	SEPTIN9	OMIM:162100
HP:0410008	Abnormality of the peripheral nervous system	1593	CYP27A1	OMIM:213700
HP:0410008	Abnormality of the peripheral nervous system	7274	TTPA	OMIM:277460
HP:0410008	Abnormality of the peripheral nervous system	215	ABCD1	ORPHA:139399
HP:0410009	Abnormality of the somatic nervous system	5351	PLOD1	ORPHA:1900
HP:0410009	Abnormality of the somatic nervous system	8291	DYSF	ORPHA:268
HP:0410009	Abnormality of the somatic nervous system	10801	SEPTIN9	OMIM:162100
HP:0410010	Abnormality of somatic nerve plexus	5351	PLOD1	ORPHA:1900
HP:0410010	Abnormality of somatic nerve plexus	8291	DYSF	ORPHA:268
HP:0410010	Abnormality of somatic nerve plexus	10801	SEPTIN9	OMIM:162100
HP:0410011	Abnormality of masticatory muscle	4487	MSX1	ORPHA:141291
HP:0410011	Abnormality of masticatory muscle	5818	NECTIN1	ORPHA:141291
HP:0410011	Abnormality of masticatory muscle	8626	TP63	ORPHA:141291
HP:0410011	Abnormality of masticatory muscle	3664	IRF6	ORPHA:141291
HP:0410011	Abnormality of masticatory muscle	9289	ADGRG1	ORPHA:98889
HP:0410011	Abnormality of masticatory muscle	5297	PI4KA	ORPHA:98889
HP:0410011	Abnormality of masticatory muscle	27286	SRPX2	ORPHA:98889
HP:0410011	Abnormality of masticatory muscle	6329	SCN4A	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	1134	CHRNA1	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	4038	LRP4	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	1305	COL13A1	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	1140	CHRNB1	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	1144	CHRND	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	1145	CHRNE	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	4593	MUSK	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	5913	RAPSN	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	375790	AGRN	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	221264	AK9	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	285489	DOK7	ORPHA:98913
HP:0410011	Abnormality of masticatory muscle	6310	ATXN1	ORPHA:98755
HP:0410011	Abnormality of masticatory muscle	779	CACNA1S	ORPHA:423
HP:0410011	Abnormality of masticatory muscle	6261	RYR1	ORPHA:423
HP:0410011	Abnormality of masticatory muscle	10755	GIPC1	ORPHA:98897
HP:0410011	Abnormality of masticatory muscle	100996717	NOTCH2NLC	ORPHA:98897
HP:0410017	Otitis externa	57591	MRTFA	OMIM:618847
HP:0410017	Otitis externa	6868	ADAM17	OMIM:614328
HP:0410017	Otitis externa	6868	ADAM17	ORPHA:294023
HP:0410017	Otitis externa	1956	EGFR	ORPHA:294023
HP:0410018	Recurrent ear infections	10312	TCIRG1	ORPHA:486
HP:0410018	Recurrent ear infections	1991	ELANE	ORPHA:486
HP:0410018	Recurrent ear infections	2672	GFI1	ORPHA:486
HP:0410018	Recurrent ear infections	6729	SRP54	ORPHA:486
HP:0410018	Recurrent ear infections	81570	CLPB	ORPHA:486
HP:0410018	Recurrent ear infections	55777	MBD5	OMIM:156200
HP:0410018	Recurrent ear infections	1650	DDOST	ORPHA:300536
HP:0410018	Recurrent ear infections	1650	DDOST	OMIM:614507
HP:0410018	Recurrent ear infections	6711	SPTBN1	OMIM:619475
HP:0410018	Recurrent ear infections	3952	LEP	OMIM:614962
HP:0410018	Recurrent ear infections	3423	IDS	ORPHA:217085
HP:0410018	Recurrent ear infections	3423	IDS	ORPHA:217093
HP:0410018	Recurrent ear infections	4953	ODC1	ORPHA:544488
HP:0410018	Recurrent ear infections	7319	UBE2A	ORPHA:163956
HP:0410018	Recurrent ear infections	5293	PIK3CD	OMIM:615513
HP:0410018	Recurrent ear infections	5293	PIK3CD	ORPHA:221139
HP:0410018	Recurrent ear infections	9338	TCEAL1	OMIM:301094
HP:0410018	Recurrent ear infections	3431	SP110	ORPHA:79124
HP:0410018	Recurrent ear infections	90417	KNSTRN	ORPHA:221139
HP:0410018	Recurrent ear infections	2273	FHL1	OMIM:300280
HP:0410018	Recurrent ear infections	79087	ALG12	ORPHA:79324
HP:0410019	Epigastric pain	4233	MET	ORPHA:33402
HP:0410019	Epigastric pain	1499	CTNNB1	ORPHA:33402
HP:0410019	Epigastric pain	7840	ALMS1	ORPHA:64
HP:0410019	Epigastric pain	11330	CTRC	ORPHA:103918
HP:0410019	Epigastric pain	6690	SPINK1	ORPHA:103918
HP:0410019	Epigastric pain	3075	CFH	ORPHA:244242
HP:0410019	Epigastric pain	3426	CFI	ORPHA:244242
HP:0410019	Epigastric pain	4179	CD46	ORPHA:244242
HP:0410019	Epigastric pain	101101692	HELLPAR	ORPHA:244242
HP:0410020	Fish odor	2328	FMO3	ORPHA:468726
HP:0410020	Fish odor	29958	DMGDH	ORPHA:243343
HP:0410020	Fish odor	29958	DMGDH	OMIM:605850
HP:0410026	Abnormal periodontium morphology	8239	USP9X	ORPHA:480880
HP:0410026	Abnormal periodontium morphology	715	C1R	OMIM:130080
HP:0410027	Alveolar bone loss around teeth	715	C1R	OMIM:130080
HP:0410028	Recurrent oral herpes	4791	NFKB2	OMIM:615577
HP:0410028	Recurrent oral herpes	5966	REL	OMIM:619652
HP:0410028	Recurrent oral herpes	2214	FCGR3A	OMIM:615707
HP:0410028	Recurrent oral herpes	7174	TPP2	OMIM:619220
HP:0410030	Cleft lip	57724	EPG5	OMIM:242840
HP:0410030	Cleft lip	10735	STAG2	OMIM:301043
HP:0410030	Cleft lip	10735	STAG2	ORPHA:220386
HP:0410030	Cleft lip	10735	STAG2	ORPHA:93925
HP:0410030	Cleft lip	23007	PLCH1	OMIM:619895
HP:0410030	Cleft lip	23007	PLCH1	ORPHA:93925
HP:0410030	Cleft lip	4750	NEK1	OMIM:263520
HP:0410030	Cleft lip	4750	NEK1	ORPHA:2751
HP:0410030	Cleft lip	81788	NUAK2	OMIM:619452
HP:0410030	Cleft lip	2260	FGFR1	ORPHA:220386
HP:0410030	Cleft lip	2260	FGFR1	OMIM:615465
HP:0410030	Cleft lip	2260	FGFR1	ORPHA:93924
HP:0410030	Cleft lip	28514	DLL1	ORPHA:220386
HP:0410030	Cleft lip	28514	DLL1	ORPHA:93926
HP:0410030	Cleft lip	28514	DLL1	ORPHA:93924
HP:0410030	Cleft lip	28514	DLL1	ORPHA:93925
HP:0410030	Cleft lip	2253	FGF8	ORPHA:220386
HP:0410030	Cleft lip	2253	FGF8	ORPHA:93926
HP:0410030	Cleft lip	2253	FGF8	ORPHA:93924
HP:0410030	Cleft lip	2253	FGF8	ORPHA:93925
HP:0410030	Cleft lip	8243	SMC1A	ORPHA:220386
HP:0410030	Cleft lip	6496	SIX3	ORPHA:220386
HP:0410030	Cleft lip	6496	SIX3	ORPHA:93926
HP:0410030	Cleft lip	6496	SIX3	ORPHA:93924
HP:0410030	Cleft lip	6496	SIX3	ORPHA:93925
HP:0410030	Cleft lip	7050	TGIF1	ORPHA:220386
HP:0410030	Cleft lip	7050	TGIF1	OMIM:142946
HP:0410030	Cleft lip	7050	TGIF1	ORPHA:93926
HP:0410030	Cleft lip	7050	TGIF1	ORPHA:93924
HP:0410030	Cleft lip	7050	TGIF1	ORPHA:93925
HP:0410030	Cleft lip	4838	NODAL	ORPHA:220386
HP:0410030	Cleft lip	4838	NODAL	ORPHA:93926
HP:0410030	Cleft lip	4838	NODAL	ORPHA:93924
HP:0410030	Cleft lip	4838	NODAL	ORPHA:93925
HP:0410030	Cleft lip	6469	SHH	ORPHA:220386
HP:0410030	Cleft lip	6469	SHH	ORPHA:93926
HP:0410030	Cleft lip	6469	SHH	ORPHA:93924
HP:0410030	Cleft lip	6469	SHH	ORPHA:93925
HP:0410030	Cleft lip	7546	ZIC2	ORPHA:220386
HP:0410030	Cleft lip	7546	ZIC2	ORPHA:93926
HP:0410030	Cleft lip	7546	ZIC2	ORPHA:93924
HP:0410030	Cleft lip	7546	ZIC2	ORPHA:93925
HP:0410030	Cleft lip	6491	STIL	ORPHA:220386
HP:0410030	Cleft lip	6491	STIL	ORPHA:93926
HP:0410030	Cleft lip	6491	STIL	ORPHA:93924
HP:0410030	Cleft lip	6491	STIL	ORPHA:93925
HP:0410030	Cleft lip	2619	GAS1	ORPHA:220386
HP:0410030	Cleft lip	2619	GAS1	ORPHA:93926
HP:0410030	Cleft lip	2619	GAS1	ORPHA:93924
HP:0410030	Cleft lip	2619	GAS1	ORPHA:93925
HP:0410030	Cleft lip	84976	DISP1	ORPHA:220386
HP:0410030	Cleft lip	84976	DISP1	ORPHA:93926
HP:0410030	Cleft lip	84976	DISP1	ORPHA:93924
HP:0410030	Cleft lip	84976	DISP1	ORPHA:93925
HP:0410030	Cleft lip	2736	GLI2	ORPHA:220386
HP:0410030	Cleft lip	2736	GLI2	ORPHA:93926
HP:0410030	Cleft lip	2736	GLI2	ORPHA:93924
HP:0410030	Cleft lip	2736	GLI2	ORPHA:93925
HP:0410030	Cleft lip	8928	FOXH1	ORPHA:220386
HP:0410030	Cleft lip	8928	FOXH1	ORPHA:93926
HP:0410030	Cleft lip	8928	FOXH1	ORPHA:93924
HP:0410030	Cleft lip	8928	FOXH1	ORPHA:93925
HP:0410030	Cleft lip	5727	PTCH1	ORPHA:220386
HP:0410030	Cleft lip	5727	PTCH1	OMIM:610828
HP:0410030	Cleft lip	5727	PTCH1	ORPHA:93926
HP:0410030	Cleft lip	5727	PTCH1	ORPHA:93924
HP:0410030	Cleft lip	5727	PTCH1	ORPHA:93925
HP:0410030	Cleft lip	50937	CDON	ORPHA:220386
HP:0410030	Cleft lip	50937	CDON	ORPHA:93926
HP:0410030	Cleft lip	50937	CDON	ORPHA:93924
HP:0410030	Cleft lip	50937	CDON	ORPHA:93925
HP:0410030	Cleft lip	23556	PIGN	ORPHA:2059
HP:0410030	Cleft lip	6608	SMO	OMIM:241800
HP:0410030	Cleft lip	57688	ZSWIM6	ORPHA:1827
HP:0410030	Cleft lip	8481	OFD1	ORPHA:2750
HP:0410030	Cleft lip	8481	OFD1	OMIM:311200
HP:0410030	Cleft lip	219844	HYLS1	OMIM:236680
HP:0410030	Cleft lip	26123	TCTN3	ORPHA:2753
HP:0410030	Cleft lip	2697	GJA1	ORPHA:2710
HP:0410030	Cleft lip	257	ALX3	OMIM:136760
HP:0410030	Cleft lip	51626	DYNC2LI1	OMIM:617088
HP:0410030	Cleft lip	83479	DDX59	ORPHA:2919
HP:0410030	Cleft lip	83479	DDX59	OMIM:174300
HP:0410030	Cleft lip	54101	RIPK4	ORPHA:1234
HP:0410030	Cleft lip	22858	CILK1	OMIM:612651
HP:0410030	Cleft lip	27152	INTU	OMIM:617926
HP:0410030	Cleft lip	2245	FGD1	OMIM:305400
HP:0410030	Cleft lip	2245	FGD1	ORPHA:915
HP:0410030	Cleft lip	341640	FREM2	ORPHA:2052
HP:0410030	Cleft lip	80144	FRAS1	ORPHA:2052
HP:0410030	Cleft lip	80144	FRAS1	OMIM:219000
HP:0410030	Cleft lip	23426	GRIP1	ORPHA:2052
HP:0410030	Cleft lip	128674	PROKR2	OMIM:244200
HP:0410030	Cleft lip	10992	SF3B2	OMIM:164210
HP:0410030	Cleft lip	23384	SPECC1L	OMIM:600251
HP:0410030	Cleft lip	4010	LMX1B	OMIM:161200
HP:0410030	Cleft lip	55112	DYNC2I1	ORPHA:93271
HP:0410030	Cleft lip	57560	IFT80	ORPHA:93271
HP:0410030	Cleft lip	57539	WDR35	ORPHA:93271
HP:0410030	Cleft lip	79659	DYNC2H1	ORPHA:93271
HP:0410030	Cleft lip	79659	DYNC2H1	OMIM:613091
HP:0410030	Cleft lip	89891	DYNC2I2	ORPHA:93271
HP:0410030	Cleft lip	3728	JUP	ORPHA:34217
HP:0410030	Cleft lip	23322	RPGRIP1L	OMIM:611561
HP:0410030	Cleft lip	2314	FLII	ORPHA:819
HP:0410030	Cleft lip	23096	IQSEC2	ORPHA:819
HP:0410030	Cleft lip	10743	RAI1	ORPHA:819
HP:0410030	Cleft lip	10522	DEAF1	ORPHA:819
HP:0410030	Cleft lip	9723	SEMA3E	ORPHA:138
HP:0410030	Cleft lip	29954	POMT2	OMIM:236670
HP:0410030	Cleft lip	29954	POMT2	OMIM:613150
HP:0410030	Cleft lip	9215	LARGE1	OMIM:236670
HP:0410030	Cleft lip	79147	FKRP	OMIM:236670
HP:0410030	Cleft lip	10585	POMT1	OMIM:236670
HP:0410030	Cleft lip	2218	FKTN	OMIM:236670
HP:0410030	Cleft lip	55650	PIGV	OMIM:239300
HP:0410030	Cleft lip	83696	TRAPPC9	OMIM:613192
HP:0410030	Cleft lip	10584	COLEC10	OMIM:248340
HP:0410030	Cleft lip	50814	NSDHL	OMIM:308050
HP:0410030	Cleft lip	340665	CYP26C1	ORPHA:398189
HP:0410030	Cleft lip	64093	SMOC1	ORPHA:1106
HP:0410030	Cleft lip	64093	SMOC1	OMIM:206920
HP:0410030	Cleft lip	10815	CPLX1	ORPHA:280
HP:0410030	Cleft lip	10815	CPLX1	OMIM:194190
HP:0410030	Cleft lip	54872	PIGG	ORPHA:280
HP:0410030	Cleft lip	7469	NELFA	ORPHA:280
HP:0410030	Cleft lip	1487	CTBP1	ORPHA:280
HP:0410030	Cleft lip	1487	CTBP1	OMIM:194190
HP:0410030	Cleft lip	3954	LETM1	ORPHA:280
HP:0410030	Cleft lip	3954	LETM1	OMIM:194190
HP:0410030	Cleft lip	7468	NSD2	ORPHA:280
HP:0410030	Cleft lip	7468	NSD2	OMIM:194190
HP:0410030	Cleft lip	4212	MEIS2	OMIM:600987
HP:0410030	Cleft lip	60	ACTB	OMIM:607371
HP:0410030	Cleft lip	60	ACTB	OMIM:243310
HP:0410030	Cleft lip	79867	TCTN2	OMIM:613885
HP:0410030	Cleft lip	53834	FGFRL1	OMIM:194190
HP:0410030	Cleft lip	26227	PHGDH	OMIM:256520
HP:0410030	Cleft lip	64840	PORCN	OMIM:305600
HP:0410030	Cleft lip	1947	EFNB1	OMIM:304110
HP:0410030	Cleft lip	8260	NAA10	OMIM:309800
HP:0410030	Cleft lip	54880	BCOR	OMIM:309800
HP:0410030	Cleft lip	57545	CC2D2A	OMIM:612284
HP:0410030	Cleft lip	57514	ARHGAP31	OMIM:100300
HP:0410030	Cleft lip	54499	TMCO1	OMIM:213980
HP:0410030	Cleft lip	54499	TMCO1	ORPHA:1394
HP:0410030	Cleft lip	157570	ESCO2	ORPHA:3103
HP:0410030	Cleft lip	157570	ESCO2	OMIM:268300
HP:0410030	Cleft lip	157570	ESCO2	OMIM:216100
HP:0410030	Cleft lip	10907	TXNL4A	OMIM:608572
HP:0410030	Cleft lip	84172	POLR1B	ORPHA:861
HP:0410030	Cleft lip	9533	POLR1C	ORPHA:861
HP:0410030	Cleft lip	51082	POLR1D	ORPHA:861
HP:0410030	Cleft lip	6949	TCOF1	ORPHA:861
HP:0410030	Cleft lip	78989	COLEC11	OMIM:265050
HP:0410030	Cleft lip	1654	DDX3X	OMIM:300958
HP:0410030	Cleft lip	4222	MEOX1	OMIM:214300
HP:0410030	Cleft lip	139285	AMER1	OMIM:300373
HP:0410030	Cleft lip	5077	PAX3	ORPHA:894
HP:0410030	Cleft lip	2121	EVC	OMIM:225500
HP:0410030	Cleft lip	132884	EVC2	OMIM:225500
HP:0410030	Cleft lip	23483	TGDS	OMIM:616145
HP:0410030	Cleft lip	25836	NIPBL	OMIM:122470
HP:0410030	Cleft lip	284058	KANSL1	OMIM:610443
HP:0410030	Cleft lip	11023	VAX1	OMIM:614402
HP:0410030	Cleft lip	2303	FOXC2	ORPHA:33001
HP:0410030	Cleft lip	2303	FOXC2	OMIM:153400
HP:0410030	Cleft lip	7473	WNT3	OMIM:273395
HP:0410030	Cleft lip	2317	FLNB	OMIM:150250
HP:0410030	Cleft lip	54903	MKS1	OMIM:249000
HP:0410030	Cleft lip	55315	SLC29A3	ORPHA:168569
HP:0410030	Cleft lip	10413	YAP1	ORPHA:1473
HP:0410030	Cleft lip	1147	CHUK	OMIM:619339
HP:0410030	Cleft lip	8405	SPOP	OMIM:618829
HP:0410030	Cleft lip	999	CDH1	ORPHA:1997
HP:0410030	Cleft lip	5626	PROP1	ORPHA:95494
HP:0410030	Cleft lip	89884	LHX4	ORPHA:95494
HP:0410030	Cleft lip	3170	FOXA2	ORPHA:95494
HP:0410030	Cleft lip	5449	POU1F1	ORPHA:95494
HP:0410030	Cleft lip	8820	HESX1	ORPHA:95494
HP:0410030	Cleft lip	5015	OTX2	ORPHA:95494
HP:0410030	Cleft lip	7474	WNT5A	ORPHA:3107
HP:0410030	Cleft lip	1855	DVL1	ORPHA:3107
HP:0410030	Cleft lip	81031	SLC2A10	ORPHA:3342
HP:0410030	Cleft lip	56975	FAM20C	ORPHA:1832
HP:0410030	Cleft lip	2719	GPC3	OMIM:312870
HP:0410030	Cleft lip	2239	GPC4	OMIM:312870
HP:0410030	Cleft lip	65250	CPLANE1	OMIM:277170
HP:0410030	Cleft lip	79971	WLS	OMIM:619648
HP:0410030	Cleft lip	8364	H4C3	OMIM:619758
HP:0410030	Cleft lip	9968	MED12	OMIM:301068
HP:0410030	Cleft lip	10524	KAT5	OMIM:619103
HP:0410030	Cleft lip	10220	GDF11	OMIM:619122
HP:0410030	Cleft lip	202018	TAPT1	OMIM:616897
HP:0410030	Cleft lip	374654	KIF7	ORPHA:2189
HP:0410030	Cleft lip	7341	SUMO1	OMIM:613705
HP:0410030	Cleft lip	5979	RET	ORPHA:1848
HP:0410030	Cleft lip	8516	ITGA8	ORPHA:1848
HP:0410030	Cleft lip	26281	FGF20	ORPHA:1848
HP:0410030	Cleft lip	2674	GFRA1	ORPHA:1848
HP:0410030	Cleft lip	7484	WNT9B	ORPHA:1848
HP:0410030	Cleft lip	80000	GREB1L	ORPHA:1848
HP:0410030	Cleft lip	4683	NBN	ORPHA:647
HP:0410030	Cleft lip	3239	HOXD13	ORPHA:887
HP:0410030	Cleft lip	1723	DHODH	ORPHA:246
HP:0410030	Cleft lip	10262	SF3B4	ORPHA:245
HP:0410030	Cleft lip	126792	B3GALT6	ORPHA:2725
HP:0410030	Cleft lip	7020	TFAP2A	ORPHA:1297
HP:0410030	Cleft lip	1748	DLX4	OMIM:616788
HP:0410030	Cleft lip	4487	MSX1	ORPHA:199302
HP:0410030	Cleft lip	5818	NECTIN1	ORPHA:199302
HP:0410030	Cleft lip	3664	IRF6	ORPHA:199302
HP:0410030	Cleft lip	2535	FZD2	OMIM:164745
HP:0410030	Cleft lip	55969	RAB5IF	OMIM:616994
HP:0410030	Cleft lip	55627	SMPD4	OMIM:618622
HP:0410030	Cleft lip	340419	RSPO2	OMIM:618021
HP:0410030	Cleft lip	145173	B3GLCT	OMIM:261540
HP:0410030	Cleft lip	2737	GLI3	ORPHA:672
HP:0410030	Cleft lip	2294	FOXF1	OMIM:265380
HP:0410030	Cleft lip	6909	TBX2	OMIM:618223
HP:0410030	Cleft lip	6628	SNRPB	OMIM:117650
HP:0410030	Cleft lip	23767	FLRT3	OMIM:615271
HP:0410030	Cleft lip	29895	MYL11	OMIM:619110
HP:0410030	Cleft lip	56006	SMG9	OMIM:616920
HP:0410030	Cleft lip	5648	MASP1	OMIM:257920
HP:0410030	Cleft lip	57122	NUP107	OMIM:618348
HP:0410030	Cleft lip	57122	NUP107	OMIM:616730
HP:0410030	Cleft lip	7314	UBB	ORPHA:99771
HP:0410030	Cleft lip	57822	GRHL3	ORPHA:99771
HP:0410030	Cleft lip	4089	SMAD4	OMIM:139210
HP:0410030	Cleft lip	1857	DVL3	OMIM:616894
HP:0410030	Cleft lip	55636	CHD7	OMIM:612370
HP:0410030	Cleft lip	90416	CCDC32	OMIM:619123
HP:0410030	Cleft lip	473	RERE	OMIM:616975
HP:0410030	Cleft lip	100506658	OCLN	OMIM:251290
HP:0410030	Cleft lip	26012	NSMF	OMIM:614838
HP:0410030	Cleft lip	7030	TFE3	OMIM:301066
HP:0410030	Cleft lip	57589	RIC1	OMIM:618761
HP:0410030	Cleft lip	4488	MSX2	ORPHA:60015
HP:0410030	Cleft lip	60529	ALX4	ORPHA:60015
HP:0410030	Cleft lip	153241	CEP120	OMIM:616300
HP:0410030	Cleft lip	23247	KATNIP	OMIM:616784
HP:0410030	Cleft lip	80204	FBXO11	OMIM:618089
HP:0410030	Cleft lip	113189	CHST14	ORPHA:2953
HP:0410030	Cleft lip	29940	DSE	ORPHA:2953
HP:0410030	Cleft lip	9487	PIGL	OMIM:280000
HP:0410030	Cleft lip	54361	WNT4	OMIM:611812
HP:0410030	Cleft lip	23133	PHF8	OMIM:300263
HP:0410030	Cleft lip	6135	RPL11	ORPHA:124
HP:0410030	Cleft lip	6138	RPL15	ORPHA:124
HP:0410030	Cleft lip	6229	RPS24	ORPHA:124
HP:0410030	Cleft lip	6125	RPL5	ORPHA:124
HP:0410030	Cleft lip	6204	RPS10	ORPHA:124
HP:0410030	Cleft lip	6224	RPS20	ORPHA:124
HP:0410030	Cleft lip	6165	RPL35A	ORPHA:124
HP:0410030	Cleft lip	2623	GATA1	ORPHA:124
HP:0410030	Cleft lip	6223	RPS19	ORPHA:124
HP:0410030	Cleft lip	6232	RPS27	ORPHA:124
HP:0410030	Cleft lip	6231	RPS26	ORPHA:124
HP:0410030	Cleft lip	11224	RPL35	ORPHA:124
HP:0410030	Cleft lip	6160	RPL31	ORPHA:124
HP:0410030	Cleft lip	6218	RPS17	ORPHA:124
HP:0410030	Cleft lip	6201	RPS7	ORPHA:124
HP:0410030	Cleft lip	6155	RPL27	ORPHA:124
HP:0410030	Cleft lip	6154	RPL26	ORPHA:124
HP:0410030	Cleft lip	6210	RPS15A	ORPHA:124
HP:0410030	Cleft lip	90121	TSR2	ORPHA:124
HP:0410030	Cleft lip	6141	RPL18	ORPHA:124
HP:0410030	Cleft lip	6235	RPS29	ORPHA:124
HP:0410030	Cleft lip	6234	RPS28	ORPHA:124
HP:0410030	Cleft lip	51816	ADA2	ORPHA:124
HP:0410030	Cleft lip	171023	ASXL1	ORPHA:97297
HP:0410030	Cleft lip	23347	SMCHD1	OMIM:603457
HP:0410030	Cleft lip	8626	TP63	ORPHA:69085
HP:0410030	Cleft lip	652	BMP4	OMIM:600625
HP:0410030	Cleft lip	1500	CTNND1	OMIM:617681
HP:0410030	Cleft lip	8295	TRRAP	OMIM:618454
HP:0410030	Cleft lip	1968	EIF2S3	OMIM:300148
HP:0410030	Cleft lip	26173	INTS1	OMIM:618571
HP:0410030	Cleft lip	4281	MID1	ORPHA:2745
HP:0410030	Cleft lip	26057	ANKRD17	OMIM:619504
HP:0410030	Cleft lip	26005	C2CD3	OMIM:615948
HP:0410030	Cleft lip	55081	IFT57	OMIM:617927
HP:0410030	Cleft lip	3720	JARID2	OMIM:620098
HP:0410030	Cleft lip	4524	MTHFR	ORPHA:563609
HP:0410030	Cleft lip	57216	VANGL2	ORPHA:563609
HP:0410031	Submucous cleft of soft and hard palate	9949	AMMECR1	OMIM:300990
HP:0410031	Submucous cleft of soft and hard palate	9653	HS2ST1	OMIM:619194
HP:0410031	Submucous cleft of soft and hard palate	3981	LIG4	ORPHA:235
HP:0410031	Submucous cleft of soft and hard palate	54888	NSUN2	ORPHA:235
HP:0410031	Submucous cleft of soft and hard palate	10735	STAG2	OMIM:301043
HP:0410031	Submucous cleft of soft and hard palate	23347	SMCHD1	ORPHA:2250
HP:0410031	Submucous cleft of soft and hard palate	6477	SIAH1	OMIM:619314
HP:0410031	Submucous cleft of soft and hard palate	63895	PIEZO2	OMIM:114300
HP:0410031	Submucous cleft of soft and hard palate	63895	PIEZO2	ORPHA:2461
HP:0410031	Submucous cleft of soft and hard palate	9791	PTDSS1	ORPHA:2658
HP:0410031	Submucous cleft of soft and hard palate	6228	RPS23	OMIM:617412
HP:0410031	Submucous cleft of soft and hard palate	5885	RAD21	OMIM:614701
HP:0410031	Submucous cleft of soft and hard palate	673	BRAF	OMIM:115150
HP:0410031	Submucous cleft of soft and hard palate	673	BRAF	ORPHA:1340
HP:0410031	Submucous cleft of soft and hard palate	8452	CUL3	OMIM:619239
HP:0410031	Submucous cleft of soft and hard palate	6418	SET	OMIM:618106
HP:0410031	Submucous cleft of soft and hard palate	1280	COL2A1	OMIM:108300
HP:0410031	Submucous cleft of soft and hard palate	9839	ZEB2	OMIM:235730
HP:0410031	Submucous cleft of soft and hard palate	5575	PRKAR1B	OMIM:619680
HP:0410031	Submucous cleft of soft and hard palate	54880	BCOR	OMIM:300166
HP:0410031	Submucous cleft of soft and hard palate	54880	BCOR	ORPHA:2712
HP:0410031	Submucous cleft of soft and hard palate	1718	DHCR24	ORPHA:35107
HP:0410031	Submucous cleft of soft and hard palate	8443	GNPAT	OMIM:222765
HP:0410031	Submucous cleft of soft and hard palate	23498	HAAO	OMIM:617660
HP:0410031	Submucous cleft of soft and hard palate	29998	BICRA	OMIM:619325
HP:0410031	Submucous cleft of soft and hard palate	6651	SON	OMIM:617140
HP:0410031	Submucous cleft of soft and hard palate	10220	GDF11	OMIM:619122
HP:0410031	Submucous cleft of soft and hard palate	6662	SOX9	OMIM:114290
HP:0410031	Submucous cleft of soft and hard palate	9993	DGCR2	OMIM:192430
HP:0410031	Submucous cleft of soft and hard palate	8220	ESS2	OMIM:192430
HP:0410031	Submucous cleft of soft and hard palate	8214	DGCR6	OMIM:192430
HP:0410031	Submucous cleft of soft and hard palate	54487	DGCR8	OMIM:192430
HP:0410031	Submucous cleft of soft and hard palate	6899	TBX1	OMIM:192430
HP:0410031	Submucous cleft of soft and hard palate	84892	POMGNT2	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	148789	B3GALNT2	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	79147	FKRP	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	29954	POMT2	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	9215	LARGE1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	1282	COL4A1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	729920	CRPPA	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	10329	RXYLT1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	1605	DAG1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	11041	B4GAT1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	10585	POMT1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	84197	POMK	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	2218	FKTN	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	55624	POMGNT1	ORPHA:899
HP:0410031	Submucous cleft of soft and hard palate	3373	HYAL1	OMIM:601492
HP:0410031	Submucous cleft of soft and hard palate	5528	PPP2R5D	ORPHA:457279
HP:0410031	Submucous cleft of soft and hard palate	57479	PRR12	OMIM:619539
HP:0410031	Submucous cleft of soft and hard palate	100151683	RNU4ATAC	ORPHA:2636
HP:0410031	Submucous cleft of soft and hard palate	4000	LMNA	ORPHA:1662
HP:0410031	Submucous cleft of soft and hard palate	10269	ZMPSTE24	ORPHA:1662
HP:0410031	Submucous cleft of soft and hard palate	10269	ZMPSTE24	OMIM:275210
HP:0410031	Submucous cleft of soft and hard palate	93986	FOXP2	ORPHA:209908
HP:0410031	Submucous cleft of soft and hard palate	5604	MAP2K1	ORPHA:1340
HP:0410031	Submucous cleft of soft and hard palate	5605	MAP2K2	ORPHA:1340
HP:0410031	Submucous cleft of soft and hard palate	3845	KRAS	ORPHA:1340
HP:0410031	Submucous cleft of soft and hard palate	23522	KAT6B	ORPHA:3047
HP:0410031	Submucous cleft of soft and hard palate	6496	SIX3	OMIM:157170
HP:0410031	Submucous cleft of soft and hard palate	81620	CDT1	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	5000	ORC4	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	23594	ORC6	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	8318	CDC45	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	990	CDC6	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	990	CDC6	OMIM:613805
HP:0410031	Submucous cleft of soft and hard palate	4998	ORC1	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	51053	GMNN	ORPHA:2554
HP:0410031	Submucous cleft of soft and hard palate	26123	TCTN3	ORPHA:2753
HP:0410031	Submucous cleft of soft and hard palate	55553	SOX6	OMIM:618971
HP:0410031	Submucous cleft of soft and hard palate	10524	KAT5	OMIM:619103
HP:0410031	Submucous cleft of soft and hard palate	833	CARS1	OMIM:618891
HP:0410031	Submucous cleft of soft and hard palate	1009	CDH11	ORPHA:1299
HP:0410031	Submucous cleft of soft and hard palate	51729	WBP11	OMIM:619227
HP:0410031	Submucous cleft of soft and hard palate	219844	HYLS1	ORPHA:2189
HP:0410031	Submucous cleft of soft and hard palate	374654	KIF7	ORPHA:2189
HP:0410031	Submucous cleft of soft and hard palate	139285	AMER1	ORPHA:2780
HP:0410031	Submucous cleft of soft and hard palate	4089	SMAD4	ORPHA:2588
HP:0410033	Unilateral alveolar cleft of maxilla	4750	NEK1	ORPHA:2751
HP:0410035	Abnormal T cell activation	57724	EPG5	OMIM:242840
HP:0410035	Abnormal T cell activation	841	CASP8	OMIM:607271
HP:0410035	Abnormal T cell activation	3953	LEPR	ORPHA:179494
HP:0410035	Abnormal T cell activation	3952	LEP	ORPHA:66628
HP:0410035	Abnormal T cell activation	100151683	RNU4ATAC	ORPHA:353298
HP:0410035	Abnormal T cell activation	84061	MAGT1	OMIM:300853
HP:0410035	Abnormal T cell activation	7040	TGFB1	OMIM:618213
HP:0410035	Abnormal T cell activation	959	CD40LG	OMIM:308230
HP:0410035	Abnormal T cell activation	146206	CARMIL2	OMIM:618131
HP:0410042	Abnormal liver morphology	1736	DKC1	OMIM:305000
HP:0410042	Abnormal liver morphology	1736	DKC1	ORPHA:1775
HP:0410042	Abnormal liver morphology	959	CD40LG	OMIM:308230
HP:0410042	Abnormal liver morphology	80270	HSD3B7	ORPHA:79301
HP:0410042	Abnormal liver morphology	80270	HSD3B7	OMIM:607765
HP:0410042	Abnormal liver morphology	6440	SFTPC	OMIM:178500
HP:0410042	Abnormal liver morphology	727897	MUC5B	OMIM:178500
HP:0410042	Abnormal liver morphology	729238	SFTPA2	OMIM:178500
HP:0410042	Abnormal liver morphology	162	AP1B1	OMIM:242150
HP:0410042	Abnormal liver morphology	26277	TINF2	OMIM:127550
HP:0410042	Abnormal liver morphology	26277	TINF2	ORPHA:1775
HP:0410042	Abnormal liver morphology	7012	TERC	OMIM:127550
HP:0410042	Abnormal liver morphology	7012	TERC	OMIM:614743
HP:0410042	Abnormal liver morphology	7012	TERC	ORPHA:1775
HP:0410042	Abnormal liver morphology	3930	LBR	ORPHA:779
HP:0410042	Abnormal liver morphology	25839	COG4	ORPHA:263501
HP:0410042	Abnormal liver morphology	25839	COG4	OMIM:613489
HP:0410042	Abnormal liver morphology	2212	FCGR2A	OMIM:219700
HP:0410042	Abnormal liver morphology	7040	TGFB1	OMIM:219700
HP:0410042	Abnormal liver morphology	7040	TGFB1	ORPHA:586
HP:0410042	Abnormal liver morphology	1080	CFTR	OMIM:219700
HP:0410042	Abnormal liver morphology	1080	CFTR	ORPHA:586
HP:0410042	Abnormal liver morphology	6609	SMPD1	ORPHA:77293
HP:0410042	Abnormal liver morphology	8647	ABCB11	OMIM:601847
HP:0410042	Abnormal liver morphology	57511	COG6	OMIM:614576
HP:0410042	Abnormal liver morphology	9971	NR1H4	OMIM:617049
HP:0410042	Abnormal liver morphology	650	BMP2	OMIM:235200
HP:0410042	Abnormal liver morphology	9056	SLC7A7	ORPHA:470
HP:0410042	Abnormal liver morphology	5265	SERPINA1	OMIM:613490
HP:0410042	Abnormal liver morphology	5265	SERPINA1	ORPHA:586
HP:0410042	Abnormal liver morphology	2592	GALT	OMIM:230400
HP:0410042	Abnormal liver morphology	5205	ATP8B1	OMIM:211600
HP:0410042	Abnormal liver morphology	7036	TFR2	OMIM:604250
HP:0410042	Abnormal liver morphology	6804	STX1A	ORPHA:586
HP:0410042	Abnormal liver morphology	2947	GSTM3	ORPHA:586
HP:0410042	Abnormal liver morphology	2729	GCLC	ORPHA:586
HP:0410042	Abnormal liver morphology	1084	CEACAM3	ORPHA:586
HP:0410042	Abnormal liver morphology	6556	SLC11A1	ORPHA:586
HP:0410042	Abnormal liver morphology	51164	DCTN4	ORPHA:586
HP:0410042	Abnormal liver morphology	3783	KCNN4	ORPHA:586
HP:0410042	Abnormal liver morphology	4282	MIF	ORPHA:586
HP:0410042	Abnormal liver morphology	1909	EDNRA	ORPHA:586
HP:0410042	Abnormal liver morphology	6550	SLC9A3	ORPHA:586
HP:0410042	Abnormal liver morphology	3162	HMOX1	ORPHA:586
HP:0410042	Abnormal liver morphology	115019	SLC26A9	ORPHA:586
HP:0410042	Abnormal liver morphology	11254	SLC6A14	ORPHA:586
HP:0410042	Abnormal liver morphology	22802	CLCA4	ORPHA:586
HP:0410042	Abnormal liver morphology	4680	CEACAM6	ORPHA:586
HP:0410042	Abnormal liver morphology	50615	IL21R	OMIM:615207
HP:0410042	Abnormal liver morphology	57570	TRMT5	OMIM:616539
HP:0410042	Abnormal liver morphology	182	JAG1	OMIM:118450
HP:0410042	Abnormal liver morphology	445	ASS1	OMIM:215700
HP:0410042	Abnormal liver morphology	84317	CCDC115	OMIM:616828
HP:0410042	Abnormal liver morphology	2184	FAH	OMIM:276700
HP:0410042	Abnormal liver morphology	112752	IFT43	OMIM:614099
HP:0410042	Abnormal liver morphology	80169	CTC1	ORPHA:1775
HP:0410042	Abnormal liver morphology	79650	USB1	ORPHA:1775
HP:0410042	Abnormal liver morphology	55135	WRAP53	ORPHA:1775
HP:0410042	Abnormal liver morphology	51750	RTEL1	ORPHA:1775
HP:0410042	Abnormal liver morphology	4869	NPM1	ORPHA:1775
HP:0410042	Abnormal liver morphology	5073	PARN	ORPHA:1775
HP:0410042	Abnormal liver morphology	7298	TYMS	ORPHA:1775
HP:0410042	Abnormal liver morphology	7389	UROD	OMIM:176100
HP:0410042	Abnormal liver morphology	2235	FECH	ORPHA:79278
HP:0410042	Abnormal liver morphology	950	SCARB2	ORPHA:77259
HP:0410042	Abnormal liver morphology	4750	NEK1	OMIM:263520
HP:0410042	Abnormal liver morphology	26160	IFT172	OMIM:615630
HP:0410042	Abnormal liver morphology	26160	IFT172	ORPHA:110
HP:0410042	Abnormal liver morphology	7015	TERT	OMIM:613989
HP:0410042	Abnormal liver morphology	427	ASAH1	ORPHA:333
HP:0410042	Abnormal liver morphology	3643	INSR	OMIM:246200
HP:0410042	Abnormal liver morphology	1777	DNASE2	OMIM:619858
HP:0410042	Abnormal liver morphology	10616	RBCK1	OMIM:615895
HP:0410042	Abnormal liver morphology	84100	ARL6	OMIM:209900
HP:0410042	Abnormal liver morphology	84100	ARL6	ORPHA:110
HP:0410042	Abnormal liver morphology	79140	CCDC28B	OMIM:209900
HP:0410042	Abnormal liver morphology	582	BBS1	OMIM:209900
HP:0410042	Abnormal liver morphology	582	BBS1	ORPHA:110
HP:0410042	Abnormal liver morphology	5257	PHKB	ORPHA:79240
HP:0410042	Abnormal liver morphology	1174	AP1S1	OMIM:609313
HP:0410042	Abnormal liver morphology	92482	BBIP1	ORPHA:110
HP:0410042	Abnormal liver morphology	49855	SCAPER	ORPHA:110
HP:0410042	Abnormal liver morphology	51057	WDPCP	ORPHA:110
HP:0410042	Abnormal liver morphology	27241	BBS9	ORPHA:110
HP:0410042	Abnormal liver morphology	22954	TRIM32	ORPHA:110
HP:0410042	Abnormal liver morphology	79738	BBS10	ORPHA:110
HP:0410042	Abnormal liver morphology	123016	TTC8	ORPHA:110
HP:0410042	Abnormal liver morphology	583	BBS2	ORPHA:110
HP:0410042	Abnormal liver morphology	585	BBS4	ORPHA:110
HP:0410042	Abnormal liver morphology	8195	MKKS	ORPHA:110
HP:0410042	Abnormal liver morphology	54585	LZTFL1	ORPHA:110
HP:0410042	Abnormal liver morphology	55212	BBS7	ORPHA:110
HP:0410042	Abnormal liver morphology	166379	BBS12	ORPHA:110
HP:0410042	Abnormal liver morphology	157657	CFAP418	ORPHA:110
HP:0410042	Abnormal liver morphology	129880	BBS5	ORPHA:110
HP:0410042	Abnormal liver morphology	80173	IFT74	ORPHA:110
HP:0410042	Abnormal liver morphology	55651	NHP2	OMIM:224230
HP:0410042	Abnormal liver morphology	55505	NOP10	OMIM:224230
HP:0410042	Abnormal liver morphology	435	ASL	OMIM:207900
HP:0410042	Abnormal liver morphology	5189	PEX1	OMIM:601539
HP:0410042	Abnormal liver morphology	2629	GBA1	ORPHA:2072
HP:0410042	Abnormal liver morphology	9652	SKIC3	OMIM:222470
HP:0410042	Abnormal liver morphology	9652	SKIC3	ORPHA:84064
HP:0410042	Abnormal liver morphology	178	AGL	OMIM:232400
HP:0410042	Abnormal liver morphology	5836	PYGL	ORPHA:369
HP:0410042	Abnormal liver morphology	6499	SKIC2	ORPHA:84064
HP:0410042	Abnormal liver morphology	3376	IARS1	OMIM:617093
HP:0410042	Abnormal liver morphology	3376	IARS1	ORPHA:541423
HP:0410042	Abnormal liver morphology	286053	NSMCE2	OMIM:617253
HP:0410042	Abnormal liver morphology	286053	NSMCE2	ORPHA:436182
HP:0410042	Abnormal liver morphology	229	ALDOB	OMIM:229600
HP:0410042	Abnormal liver morphology	3033	HADH	OMIM:231530
HP:0410042	Abnormal liver morphology	3033	HADH	ORPHA:71212
HP:0410042	Abnormal liver morphology	11020	IFT27	OMIM:615996
HP:0410042	Abnormal liver morphology	132	ADK	OMIM:614300
HP:0410042	Abnormal liver morphology	60684	TRAPPC11	OMIM:615356
HP:0410042	Abnormal liver morphology	60684	TRAPPC11	ORPHA:369840
HP:0410042	Abnormal liver morphology	1355	COX15	OMIM:615119
HP:0410042	Abnormal liver morphology	63924	CIDEC	OMIM:615238
HP:0410042	Abnormal liver morphology	63924	CIDEC	ORPHA:435651
HP:0410042	Abnormal liver morphology	857	CAV1	OMIM:612526
HP:0410042	Abnormal liver morphology	857	CAV1	ORPHA:528
HP:0410042	Abnormal liver morphology	81570	CLPB	ORPHA:445038
HP:0410042	Abnormal liver morphology	81570	CLPB	OMIM:616271
HP:0410042	Abnormal liver morphology	6718	AKR1D1	ORPHA:79303
HP:0410042	Abnormal liver morphology	80222	TARS2	OMIM:615918
HP:0410042	Abnormal liver morphology	26580	BSCL2	ORPHA:363400
HP:0410042	Abnormal liver morphology	26580	BSCL2	OMIM:269700
HP:0410042	Abnormal liver morphology	26580	BSCL2	ORPHA:528
HP:0410042	Abnormal liver morphology	6341	SCO1	OMIM:619048
HP:0410042	Abnormal liver morphology	4141	MARS1	OMIM:615486
HP:0410042	Abnormal liver morphology	8882	ZPR1	OMIM:619321
HP:0410042	Abnormal liver morphology	348	APOE	ORPHA:412
HP:0410042	Abnormal liver morphology	2542	SLC37A4	ORPHA:79259
HP:0410042	Abnormal liver morphology	2542	SLC37A4	OMIM:619525
HP:0410042	Abnormal liver morphology	3949	LDLR	ORPHA:391665
HP:0410042	Abnormal liver morphology	255738	PCSK9	ORPHA:391665
HP:0410042	Abnormal liver morphology	26119	LDLRAP1	ORPHA:391665
HP:0410042	Abnormal liver morphology	338	APOB	ORPHA:391665
HP:0410042	Abnormal liver morphology	64240	ABCG5	ORPHA:391665
HP:0410042	Abnormal liver morphology	64241	ABCG8	ORPHA:391665
HP:0410042	Abnormal liver morphology	34	ACADM	OMIM:201450
HP:0410042	Abnormal liver morphology	34	ACADM	ORPHA:42
HP:0410042	Abnormal liver morphology	5105	PCK1	OMIM:261680
HP:0410042	Abnormal liver morphology	50619	DEF6	OMIM:619573
HP:0410042	Abnormal liver morphology	26007	TKFC	OMIM:618805
HP:0410042	Abnormal liver morphology	5468	PPARG	ORPHA:79083
HP:0410042	Abnormal liver morphology	5468	PPARG	OMIM:604367
HP:0410042	Abnormal liver morphology	5468	PPARG	ORPHA:528
HP:0410042	Abnormal liver morphology	4000	LMNA	ORPHA:79084
HP:0410042	Abnormal liver morphology	4000	LMNA	OMIM:151660
HP:0410042	Abnormal liver morphology	4000	LMNA	ORPHA:79474
HP:0410042	Abnormal liver morphology	4000	LMNA	ORPHA:280365
HP:0410042	Abnormal liver morphology	4000	LMNA	ORPHA:2348
HP:0410042	Abnormal liver morphology	208	AKT2	ORPHA:79085
HP:0410042	Abnormal liver morphology	5346	PLIN1	OMIM:613877
HP:0410042	Abnormal liver morphology	5346	PLIN1	ORPHA:280356
HP:0410042	Abnormal liver morphology	84823	LMNB2	ORPHA:79087
HP:0410042	Abnormal liver morphology	84823	LMNB2	OMIM:608709
HP:0410042	Abnormal liver morphology	10555	AGPAT2	OMIM:608594
HP:0410042	Abnormal liver morphology	10555	AGPAT2	ORPHA:528
HP:0410042	Abnormal liver morphology	1717	DHCR7	OMIM:270400
HP:0410042	Abnormal liver morphology	4547	MTTP	ORPHA:14
HP:0410042	Abnormal liver morphology	6899	TBX1	OMIM:188400
HP:0410042	Abnormal liver morphology	5424	POLD1	OMIM:615381
HP:0410042	Abnormal liver morphology	8802	SUCLG1	ORPHA:17
HP:0410042	Abnormal liver morphology	84984	CEP19	OMIM:615703
HP:0410042	Abnormal liver morphology	1588	CYP19A1	ORPHA:91
HP:0410042	Abnormal liver morphology	11222	MRPL3	OMIM:614582
HP:0410042	Abnormal liver morphology	6711	SPTBN1	OMIM:619475
HP:0410042	Abnormal liver morphology	3991	LIPE	ORPHA:435660
HP:0410042	Abnormal liver morphology	3991	LIPE	OMIM:615980
HP:0410042	Abnormal liver morphology	5566	PRKACA	ORPHA:189439
HP:0410042	Abnormal liver morphology	8622	PDE8B	ORPHA:189439
HP:0410042	Abnormal liver morphology	5573	PRKAR1A	ORPHA:189439
HP:0410042	Abnormal liver morphology	50940	PDE11A	ORPHA:189439
HP:0410042	Abnormal liver morphology	51520	LARS1	OMIM:615438
HP:0410042	Abnormal liver morphology	788	SLC25A20	OMIM:212138
HP:0410042	Abnormal liver morphology	540	ATP7B	ORPHA:905
HP:0410042	Abnormal liver morphology	540	ATP7B	OMIM:277900
HP:0410042	Abnormal liver morphology	5590	PRKCZ	ORPHA:1606
HP:0410042	Abnormal liver morphology	2563	GABRD	ORPHA:1606
HP:0410042	Abnormal liver morphology	23013	SPEN	ORPHA:1606
HP:0410042	Abnormal liver morphology	8510	MMP23B	ORPHA:1606
HP:0410042	Abnormal liver morphology	7798	LUZP1	ORPHA:1606
HP:0410042	Abnormal liver morphology	6497	SKI	ORPHA:1606
HP:0410042	Abnormal liver morphology	10630	PDPN	ORPHA:1606
HP:0410042	Abnormal liver morphology	3339	HSPG2	ORPHA:1606
HP:0410042	Abnormal liver morphology	10277	UBE4B	ORPHA:1606
HP:0410042	Abnormal liver morphology	8514	KCNAB2	ORPHA:1606
HP:0410042	Abnormal liver morphology	473	RERE	ORPHA:1606
HP:0410042	Abnormal liver morphology	63976	PRDM16	ORPHA:1606
HP:0410042	Abnormal liver morphology	54897	CASZ1	ORPHA:1606
HP:0410042	Abnormal liver morphology	6928	HNF1B	ORPHA:93111
HP:0410042	Abnormal liver morphology	2203	FBP1	ORPHA:348
HP:0410042	Abnormal liver morphology	5106	PCK2	OMIM:261650
HP:0410042	Abnormal liver morphology	79798	ARMC5	ORPHA:189427
HP:0410042	Abnormal liver morphology	2778	GNAS	ORPHA:189427
HP:0410042	Abnormal liver morphology	641	BLM	OMIM:210900
HP:0410042	Abnormal liver morphology	64135	IFIH1	OMIM:615846
HP:0410042	Abnormal liver morphology	7518	XRCC4	ORPHA:436182
HP:0410042	Abnormal liver morphology	51128	SAR1B	ORPHA:71
HP:0410042	Abnormal liver morphology	11128	POLR3A	ORPHA:3455
HP:0410042	Abnormal liver morphology	3178	HNRNPA1	ORPHA:52430
HP:0410042	Abnormal liver morphology	7415	VCP	ORPHA:52430
HP:0410042	Abnormal liver morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0410042	Abnormal liver morphology	57104	PNPLA2	OMIM:610717
HP:0410042	Abnormal liver morphology	57104	PNPLA2	ORPHA:98908
HP:0410042	Abnormal liver morphology	1650	DDOST	ORPHA:300536
HP:0410042	Abnormal liver morphology	2819	GPD1	OMIM:614480
HP:0410042	Abnormal liver morphology	51081	MRPS7	OMIM:617872
HP:0410042	Abnormal liver morphology	2193	FARSA	OMIM:619013
HP:0410042	Abnormal liver morphology	1374	CPT1A	OMIM:255120
HP:0410042	Abnormal liver morphology	5236	PGM1	OMIM:614921
HP:0410042	Abnormal liver morphology	55005	RMND1	OMIM:614922
HP:0410042	Abnormal liver morphology	3295	HSD17B4	OMIM:261515
HP:0410042	Abnormal liver morphology	9757	KMT2B	OMIM:619934
HP:0410042	Abnormal liver morphology	147007	TMEM199	OMIM:616829
HP:0410042	Abnormal liver morphology	875	CBS	OMIM:236200
HP:0410042	Abnormal liver morphology	284119	CAVIN1	ORPHA:528
HP:0410042	Abnormal liver morphology	284119	CAVIN1	OMIM:613327
HP:0410042	Abnormal liver morphology	2353	FOS	ORPHA:528
HP:0410042	Abnormal liver morphology	8813	DPM1	ORPHA:79322
HP:0410042	Abnormal liver morphology	9054	NFS1	OMIM:619386
HP:0410042	Abnormal liver morphology	5256	PHKA2	ORPHA:264580
HP:0410042	Abnormal liver morphology	5261	PHKG2	ORPHA:264580
HP:0410042	Abnormal liver morphology	35	ACADS	ORPHA:26792
HP:0410042	Abnormal liver morphology	5428	POLG	ORPHA:298
HP:0410042	Abnormal liver morphology	1890	TYMP	ORPHA:298
HP:0410042	Abnormal liver morphology	3980	LIG3	ORPHA:298
HP:0410042	Abnormal liver morphology	50484	RRM2B	ORPHA:298
HP:0410042	Abnormal liver morphology	1376	CPT2	OMIM:608836
HP:0410042	Abnormal liver morphology	1376	CPT2	OMIM:600649
HP:0410042	Abnormal liver morphology	10165	SLC25A13	OMIM:605814
HP:0410042	Abnormal liver morphology	55687	TRMU	OMIM:613070
HP:0410042	Abnormal liver morphology	51103	NDUFAF1	OMIM:618234
HP:0410042	Abnormal liver morphology	10651	MTX2	OMIM:619127
HP:0410042	Abnormal liver morphology	57128	LYRM4	OMIM:615595
HP:0410042	Abnormal liver morphology	8260	NAA10	OMIM:300855
HP:0410042	Abnormal liver morphology	125988	MICOS13	OMIM:618329
HP:0410042	Abnormal liver morphology	65082	VPS33A	OMIM:617303
HP:0410042	Abnormal liver morphology	1794	DOCK2	OMIM:616433
HP:0410042	Abnormal liver morphology	124454	EARS2	OMIM:614924
HP:0410042	Abnormal liver morphology	1581	CYP7A1	ORPHA:209902
HP:0410042	Abnormal liver morphology	4358	MPV17	OMIM:256810
HP:0410042	Abnormal liver morphology	374354	NHLRC2	OMIM:618278
HP:0410042	Abnormal liver morphology	79796	ALG9	ORPHA:79328
HP:0410042	Abnormal liver morphology	79796	ALG9	OMIM:263210
HP:0410042	Abnormal liver morphology	123264	SLC51B	OMIM:619481
HP:0410042	Abnormal liver morphology	203286	ANKS6	OMIM:615382
HP:0410042	Abnormal liver morphology	37	ACADVL	OMIM:201475
HP:0410042	Abnormal liver morphology	200931	SLC51A	OMIM:619484
HP:0410042	Abnormal liver morphology	617	BCS1L	OMIM:124000
HP:0410042	Abnormal liver morphology	51726	DNAJB11	OMIM:618061
HP:0410042	Abnormal liver morphology	51726	DNAJB11	ORPHA:730
HP:0410042	Abnormal liver morphology	23193	GANAB	ORPHA:730
HP:0410042	Abnormal liver morphology	23193	GANAB	OMIM:600666
HP:0410042	Abnormal liver morphology	5310	PKD1	ORPHA:730
HP:0410042	Abnormal liver morphology	5310	PKD1	OMIM:173900
HP:0410042	Abnormal liver morphology	5311	PKD2	ORPHA:730
HP:0410042	Abnormal liver morphology	5311	PKD2	OMIM:613095
HP:0410042	Abnormal liver morphology	29880	ALG5	ORPHA:730
HP:0410042	Abnormal liver morphology	9742	IFT140	ORPHA:730
HP:0410042	Abnormal liver morphology	80114	BICC1	ORPHA:730
HP:0410042	Abnormal liver morphology	4041	LRP5	OMIM:617875
HP:0410042	Abnormal liver morphology	79053	ALG8	OMIM:617874
HP:0410042	Abnormal liver morphology	57728	WDR19	OMIM:616307
HP:0410042	Abnormal liver morphology	57728	WDR19	OMIM:614377
HP:0410042	Abnormal liver morphology	3458	IFNG	ORPHA:805
HP:0410042	Abnormal liver morphology	7248	TSC1	ORPHA:805
HP:0410042	Abnormal liver morphology	7249	TSC2	ORPHA:805
HP:0410042	Abnormal liver morphology	284086	NEK8	OMIM:615415
HP:0410042	Abnormal liver morphology	55764	IFT122	OMIM:218330
HP:0410042	Abnormal liver morphology	79809	TTC21B	OMIM:613819
HP:0410042	Abnormal liver morphology	11231	SEC63	OMIM:617004
HP:0410042	Abnormal liver morphology	2137	EXTL3	OMIM:617425
HP:0410042	Abnormal liver morphology	8481	OFD1	OMIM:311200
HP:0410042	Abnormal liver morphology	3716	JAK1	OMIM:618999
HP:0410042	Abnormal liver morphology	171023	ASXL1	ORPHA:98850
HP:0410042	Abnormal liver morphology	54790	TET2	ORPHA:98850
HP:0410042	Abnormal liver morphology	54790	TET2	ORPHA:824
HP:0410042	Abnormal liver morphology	54790	TET2	ORPHA:729
HP:0410042	Abnormal liver morphology	867	CBL	ORPHA:98850
HP:0410042	Abnormal liver morphology	861	RUNX1	ORPHA:98850
HP:0410042	Abnormal liver morphology	6427	SRSF2	ORPHA:98850
HP:0410042	Abnormal liver morphology	7840	ALMS1	ORPHA:64
HP:0410042	Abnormal liver morphology	55532	SLC30A10	ORPHA:309854
HP:0410042	Abnormal liver morphology	72	ACTG2	OMIM:619431
HP:0410042	Abnormal liver morphology	2632	GBE1	OMIM:232500
HP:0410042	Abnormal liver morphology	9414	TJP2	OMIM:615878
HP:0410042	Abnormal liver morphology	811	CALR	ORPHA:824
HP:0410042	Abnormal liver morphology	811	CALR	ORPHA:131
HP:0410042	Abnormal liver morphology	4352	MPL	ORPHA:824
HP:0410042	Abnormal liver morphology	4352	MPL	ORPHA:729
HP:0410042	Abnormal liver morphology	3717	JAK2	ORPHA:824
HP:0410042	Abnormal liver morphology	3717	JAK2	ORPHA:131
HP:0410042	Abnormal liver morphology	3717	JAK2	ORPHA:729
HP:0410042	Abnormal liver morphology	10056	FARSB	OMIM:613658
HP:0410042	Abnormal liver morphology	197131	UBR1	OMIM:243800
HP:0410042	Abnormal liver morphology	3594	IL12RB1	ORPHA:186
HP:0410042	Abnormal liver morphology	23534	TNPO3	ORPHA:186
HP:0410042	Abnormal liver morphology	3592	IL12A	ORPHA:186
HP:0410042	Abnormal liver morphology	6689	SPIB	ORPHA:186
HP:0410042	Abnormal liver morphology	5450	POU2AF1	ORPHA:186
HP:0410042	Abnormal liver morphology	9966	TNFSF15	ORPHA:186
HP:0410042	Abnormal liver morphology	79258	MMEL1	ORPHA:186
HP:0410042	Abnormal liver morphology	3663	IRF5	ORPHA:186
HP:0410042	Abnormal liver morphology	100147744	RNU7-1	OMIM:619487
HP:0410042	Abnormal liver morphology	79991	STN1	OMIM:617341
HP:0410042	Abnormal liver morphology	27031	NPHP3	OMIM:208540
HP:0410042	Abnormal liver morphology	27031	NPHP3	OMIM:267010
HP:0410042	Abnormal liver morphology	83737	ITCH	OMIM:613385
HP:0410042	Abnormal liver morphology	83737	ITCH	ORPHA:228426
HP:0410042	Abnormal liver morphology	1716	DGUOK	OMIM:617068
HP:0410042	Abnormal liver morphology	1716	DGUOK	OMIM:251880
HP:0410042	Abnormal liver morphology	50674	NEUROG3	ORPHA:83620
HP:0410042	Abnormal liver morphology	51816	ADA2	OMIM:615688
HP:0410042	Abnormal liver morphology	84936	ZFYVE19	OMIM:619849
HP:0410042	Abnormal liver morphology	169792	GLIS3	OMIM:610199
HP:0410042	Abnormal liver morphology	51473	DCDC2	ORPHA:84081
HP:0410042	Abnormal liver morphology	51473	DCDC2	OMIM:617394
HP:0410042	Abnormal liver morphology	23729	SHPK	ORPHA:440713
HP:0410042	Abnormal liver morphology	9076	CLDN1	ORPHA:59303
HP:0410042	Abnormal liver morphology	9076	CLDN1	OMIM:607626
HP:0410042	Abnormal liver morphology	6663	SOX10	OMIM:609136
HP:0410042	Abnormal liver morphology	51085	MLXIPL	OMIM:194050
HP:0410042	Abnormal liver morphology	2006	ELN	OMIM:194050
HP:0410042	Abnormal liver morphology	3516	RBPJ	ORPHA:974
HP:0410042	Abnormal liver morphology	4851	NOTCH1	ORPHA:974
HP:0410042	Abnormal liver morphology	57514	ARHGAP31	ORPHA:974
HP:0410042	Abnormal liver morphology	57572	DOCK6	ORPHA:974
HP:0410042	Abnormal liver morphology	285203	EOGT	ORPHA:974
HP:0410042	Abnormal liver morphology	54567	DLL4	ORPHA:974
HP:0410042	Abnormal liver morphology	54567	DLL4	OMIM:616589
HP:0410042	Abnormal liver morphology	199221	DZIP1L	ORPHA:731
HP:0410042	Abnormal liver morphology	9968	MED12	OMIM:301068
HP:0410042	Abnormal liver morphology	2658	GDF2	ORPHA:774
HP:0410042	Abnormal liver morphology	2658	GDF2	OMIM:615506
HP:0410042	Abnormal liver morphology	94	ACVRL1	ORPHA:774
HP:0410042	Abnormal liver morphology	4089	SMAD4	ORPHA:774
HP:0410042	Abnormal liver morphology	2022	ENG	ORPHA:774
HP:0410042	Abnormal liver morphology	4351	MPI	ORPHA:79319
HP:0410042	Abnormal liver morphology	2153	F5	ORPHA:131
HP:0410042	Abnormal liver morphology	2859	GPR35	ORPHA:171
HP:0410042	Abnormal liver morphology	10507	SEMA4D	ORPHA:171
HP:0410042	Abnormal liver morphology	4485	MST1	ORPHA:171
HP:0410042	Abnormal liver morphology	6925	TCF4	ORPHA:171
HP:0410042	Abnormal liver morphology	79989	IFT56	OMIM:619534
HP:0410042	Abnormal liver morphology	3988	LIPA	OMIM:278000
HP:0410042	Abnormal liver morphology	654	BMP6	ORPHA:465508
HP:0410042	Abnormal liver morphology	3077	HFE	ORPHA:465508
HP:0410042	Abnormal liver morphology	5557	PRIM1	OMIM:620005
HP:0410042	Abnormal liver morphology	3431	SP110	ORPHA:79124
HP:0410042	Abnormal liver morphology	5825	ABCD3	OMIM:616278
HP:0410042	Abnormal liver morphology	93183	PIGM	OMIM:610293
HP:0410042	Abnormal liver morphology	55340	GIMAP5	OMIM:619463
HP:0410042	Abnormal liver morphology	113220	KIF12	OMIM:619662
HP:0410042	Abnormal liver morphology	7289	TULP3	OMIM:619902
HP:0410042	Abnormal liver morphology	56623	INPP5E	ORPHA:1454
HP:0410042	Abnormal liver morphology	2783	GNB2	OMIM:619503
HP:0410042	Abnormal liver morphology	56244	BTNL2	ORPHA:797
HP:0410042	Abnormal liver morphology	3123	HLA-DRB1	ORPHA:797
HP:0410042	Abnormal liver morphology	695	BTK	OMIM:300755
HP:0410042	Abnormal liver morphology	695	BTK	OMIM:307200
HP:0410042	Abnormal liver morphology	10159	ATP6AP2	OMIM:301045
HP:0410042	Abnormal liver morphology	7157	TP53	OMIM:114550
HP:0410042	Abnormal liver morphology	4233	MET	OMIM:114550
HP:0410042	Abnormal liver morphology	8312	AXIN1	OMIM:114550
HP:0410042	Abnormal liver morphology	5290	PIK3CA	OMIM:114550
HP:0410042	Abnormal liver morphology	841	CASP8	OMIM:114550
HP:0410042	Abnormal liver morphology	5157	PDGFRL	OMIM:114550
HP:0410042	Abnormal liver morphology	3482	IGF2R	OMIM:114550
HP:0410042	Abnormal liver morphology	324	APC	OMIM:114550
HP:0410042	Abnormal liver morphology	1499	CTNNB1	OMIM:114550
HP:0410042	Abnormal liver morphology	51099	ABHD5	ORPHA:98907
HP:0410042	Abnormal liver morphology	383	ARG1	OMIM:207800
HP:0410042	Abnormal liver morphology	9371	KIF3B	OMIM:618955
HP:0410042	Abnormal liver morphology	3875	KRT18	OMIM:215600
HP:0410042	Abnormal liver morphology	6888	TALDO1	OMIM:606003
HP:0410042	Abnormal liver morphology	27183	VPS4A	OMIM:619273
HP:0410042	Abnormal liver morphology	10128	LRPPRC	OMIM:220111
HP:0410042	Abnormal liver morphology	55898	UNC45A	OMIM:619377
HP:0410042	Abnormal liver morphology	65080	MRPL44	OMIM:615395
HP:0410042	Abnormal liver morphology	79587	CARS2	OMIM:616672
HP:0410042	Abnormal liver morphology	7019	TFAM	OMIM:617156
HP:0410042	Abnormal liver morphology	8565	YARS1	OMIM:619418
HP:0410042	Abnormal liver morphology	131118	DNAJC19	OMIM:610198
HP:0410042	Abnormal liver morphology	131118	DNAJC19	ORPHA:66634
HP:0410042	Abnormal liver morphology	28976	ACAD9	OMIM:611126
HP:0410042	Abnormal liver morphology	55768	NGLY1	ORPHA:404454
HP:0410042	Abnormal liver morphology	6584	SLC22A5	OMIM:212140
HP:0410042	Abnormal liver morphology	3071	NCKAP1L	OMIM:618982
HP:0410042	Abnormal liver morphology	55823	VPS11	ORPHA:466934
HP:0410042	Abnormal liver morphology	5880	RAC2	OMIM:618986
HP:0410042	Abnormal liver morphology	4023	LPL	OMIM:238600
HP:0410042	Abnormal liver morphology	6775	STAT4	ORPHA:85408
HP:0410042	Abnormal liver morphology	79722	ANKRD55	ORPHA:85408
HP:0410042	Abnormal liver morphology	26191	PTPN22	ORPHA:85408
HP:0410042	Abnormal liver morphology	3559	IL2RA	ORPHA:85408
HP:0410042	Abnormal liver morphology	3559	IL2RA	OMIM:606367
HP:0410042	Abnormal liver morphology	5771	PTPN2	ORPHA:85408
HP:0410042	Abnormal liver morphology	3459	IFNGR1	OMIM:209950
HP:0410042	Abnormal liver morphology	2122	MECOM	OMIM:616738
HP:0410042	Abnormal liver morphology	5476	CTSA	OMIM:256540
HP:0410042	Abnormal liver morphology	9382	COG1	ORPHA:263508
HP:0410042	Abnormal liver morphology	26154	ABCA12	OMIM:601277
HP:0410042	Abnormal liver morphology	672	BRCA1	ORPHA:1333
HP:0410042	Abnormal liver morphology	285282	RABL3	ORPHA:1333
HP:0410042	Abnormal liver morphology	675	BRCA2	ORPHA:1333
HP:0410042	Abnormal liver morphology	1029	CDKN2A	ORPHA:1333
HP:0410042	Abnormal liver morphology	79728	PALB2	ORPHA:1333
HP:0410042	Abnormal liver morphology	23022	PALLD	ORPHA:1333
HP:0410042	Abnormal liver morphology	9051	PSTPIP1	OMIM:604416
HP:0410042	Abnormal liver morphology	970	CD70	OMIM:618261
HP:0410042	Abnormal liver morphology	3572	IL6ST	OMIM:619750
HP:0410042	Abnormal liver morphology	6774	STAT3	OMIM:615952
HP:0410042	Abnormal liver morphology	8517	IKBKG	OMIM:301081
HP:0410042	Abnormal liver morphology	2263	FGFR2	OMIM:614592
HP:0410042	Abnormal liver morphology	2263	FGFR2	ORPHA:313855
HP:0410042	Abnormal liver morphology	5788	PTPRC	OMIM:619924
HP:0410042	Abnormal liver morphology	5294	PIK3CG	OMIM:619802
HP:0410042	Abnormal liver morphology	3718	JAK3	ORPHA:35078
HP:0410042	Abnormal liver morphology	84868	HAVCR2	ORPHA:86884
HP:0410042	Abnormal liver morphology	9939	RBM8A	OMIM:274000
HP:0410042	Abnormal liver morphology	84153	RNASEH2C	OMIM:610329
HP:0410042	Abnormal liver morphology	84153	RNASEH2C	ORPHA:51
HP:0410042	Abnormal liver morphology	1513	CTSK	ORPHA:763
HP:0410042	Abnormal liver morphology	25939	SAMHD1	ORPHA:51
HP:0410042	Abnormal liver morphology	79621	RNASEH2B	ORPHA:51
HP:0410042	Abnormal liver morphology	134353	LSM11	ORPHA:51
HP:0410042	Abnormal liver morphology	6006	RHCE	ORPHA:71275
HP:0410042	Abnormal liver morphology	3561	IL2RG	ORPHA:276
HP:0410042	Abnormal liver morphology	3561	IL2RG	OMIM:300400
HP:0410042	Abnormal liver morphology	3561	IL2RG	ORPHA:39041
HP:0410042	Abnormal liver morphology	1497	CTNS	OMIM:219800
HP:0410042	Abnormal liver morphology	54539	NDUFB11	ORPHA:2609
HP:0410042	Abnormal liver morphology	25915	NDUFAF3	ORPHA:2609
HP:0410042	Abnormal liver morphology	91942	NDUFAF2	ORPHA:2609
HP:0410042	Abnormal liver morphology	51300	TIMMDC1	ORPHA:2609
HP:0410042	Abnormal liver morphology	4716	NDUFB10	ORPHA:2609
HP:0410042	Abnormal liver morphology	4723	NDUFV1	ORPHA:2609
HP:0410042	Abnormal liver morphology	55572	FOXRED1	ORPHA:2609
HP:0410042	Abnormal liver morphology	284184	NDUFAF8	ORPHA:2609
HP:0410042	Abnormal liver morphology	55863	TMEM126B	ORPHA:2609
HP:0410042	Abnormal liver morphology	4535	MT-ND1	ORPHA:2609
HP:0410042	Abnormal liver morphology	4535	MT-ND1	ORPHA:255210
HP:0410042	Abnormal liver morphology	4537	MT-ND3	ORPHA:2609
HP:0410042	Abnormal liver morphology	4537	MT-ND3	ORPHA:255210
HP:0410042	Abnormal liver morphology	4729	NDUFV2	ORPHA:2609
HP:0410042	Abnormal liver morphology	4694	NDUFA1	ORPHA:2609
HP:0410042	Abnormal liver morphology	4720	NDUFS2	ORPHA:2609
HP:0410042	Abnormal liver morphology	4724	NDUFS4	ORPHA:2609
HP:0410042	Abnormal liver morphology	4724	NDUFS4	OMIM:252010
HP:0410042	Abnormal liver morphology	4726	NDUFS6	ORPHA:2609
HP:0410042	Abnormal liver morphology	4728	NDUFS8	ORPHA:2609
HP:0410042	Abnormal liver morphology	4722	NDUFS3	ORPHA:2609
HP:0410042	Abnormal liver morphology	79133	NDUFAF5	ORPHA:2609
HP:0410042	Abnormal liver morphology	126328	NDUFA11	ORPHA:2609
HP:0410042	Abnormal liver morphology	4709	NDUFB3	ORPHA:2609
HP:0410042	Abnormal liver morphology	80224	NUBPL	ORPHA:2609
HP:0410042	Abnormal liver morphology	29078	NDUFAF4	ORPHA:2609
HP:0410042	Abnormal liver morphology	374291	NDUFS7	ORPHA:2609
HP:0410042	Abnormal liver morphology	374291	NDUFS7	OMIM:618224
HP:0410042	Abnormal liver morphology	4700	NDUFA6	ORPHA:2609
HP:0410042	Abnormal liver morphology	4536	MT-ND2	ORPHA:2609
HP:0410042	Abnormal liver morphology	4536	MT-ND2	ORPHA:255210
HP:0410042	Abnormal liver morphology	4719	NDUFS1	ORPHA:2609
HP:0410042	Abnormal liver morphology	4719	NDUFS1	OMIM:618226
HP:0410042	Abnormal liver morphology	4715	NDUFB9	ORPHA:2609
HP:0410042	Abnormal liver morphology	5728	PTEN	OMIM:605309
HP:0410042	Abnormal liver morphology	1161	ERCC8	ORPHA:90324
HP:0410042	Abnormal liver morphology	1161	ERCC8	ORPHA:90321
HP:0410042	Abnormal liver morphology	1161	ERCC8	ORPHA:90322
HP:0410042	Abnormal liver morphology	1161	ERCC8	OMIM:216400
HP:0410042	Abnormal liver morphology	2074	ERCC6	ORPHA:90324
HP:0410042	Abnormal liver morphology	2074	ERCC6	ORPHA:90321
HP:0410042	Abnormal liver morphology	2074	ERCC6	ORPHA:90322
HP:0410042	Abnormal liver morphology	2074	ERCC6	OMIM:133540
HP:0410042	Abnormal liver morphology	19	ABCA1	OMIM:205400
HP:0410042	Abnormal liver morphology	2720	GLB1	OMIM:230600
HP:0410042	Abnormal liver morphology	2720	GLB1	OMIM:230650
HP:0410042	Abnormal liver morphology	2720	GLB1	OMIM:230500
HP:0410042	Abnormal liver morphology	2720	GLB1	OMIM:253010
HP:0410042	Abnormal liver morphology	5830	PEX5	OMIM:214110
HP:0410042	Abnormal liver morphology	5830	PEX5	ORPHA:772
HP:0410042	Abnormal liver morphology	5830	PEX5	ORPHA:912
HP:0410042	Abnormal liver morphology	2072	ERCC4	ORPHA:90321
HP:0410042	Abnormal liver morphology	2067	ERCC1	ORPHA:90322
HP:0410042	Abnormal liver morphology	4538	MT-ND4	ORPHA:255210
HP:0410042	Abnormal liver morphology	4567	MT-TL1	ORPHA:255210
HP:0410042	Abnormal liver morphology	4578	MT-TW	ORPHA:255210
HP:0410042	Abnormal liver morphology	4577	MT-TV	ORPHA:255210
HP:0410042	Abnormal liver morphology	4508	MT-ATP6	ORPHA:255210
HP:0410042	Abnormal liver morphology	4540	MT-ND5	ORPHA:255210
HP:0410042	Abnormal liver morphology	4541	MT-ND6	ORPHA:255210
HP:0410042	Abnormal liver morphology	4566	MT-TK	ORPHA:255210
HP:0410042	Abnormal liver morphology	4210	MEFV	OMIM:249100
HP:0410042	Abnormal liver morphology	939	CD27	OMIM:615122
HP:0410042	Abnormal liver morphology	5184	PEPD	OMIM:170100
HP:0410042	Abnormal liver morphology	5184	PEPD	ORPHA:742
HP:0410042	Abnormal liver morphology	129563	DIS3L2	ORPHA:2849
HP:0410042	Abnormal liver morphology	79158	GNPTAB	OMIM:252500
HP:0410042	Abnormal liver morphology	7086	TKT	ORPHA:488618
HP:0410042	Abnormal liver morphology	6023	RMRP	ORPHA:175
HP:0410042	Abnormal liver morphology	6023	RMRP	ORPHA:39041
HP:0410042	Abnormal liver morphology	6772	STAT1	OMIM:614162
HP:0410042	Abnormal liver morphology	23495	TNFRSF13B	OMIM:240500
HP:0410042	Abnormal liver morphology	115650	TNFRSF13C	OMIM:240500
HP:0410042	Abnormal liver morphology	1380	CR2	OMIM:240500
HP:0410042	Abnormal liver morphology	29851	ICOS	OMIM:240500
HP:0410042	Abnormal liver morphology	29851	ICOS	OMIM:607594
HP:0410042	Abnormal liver morphology	930	CD19	OMIM:240500
HP:0410042	Abnormal liver morphology	103	ADAR	OMIM:615010
HP:0410042	Abnormal liver morphology	1493	CTLA4	OMIM:616100
HP:0410042	Abnormal liver morphology	1493	CTLA4	ORPHA:3162
HP:0410042	Abnormal liver morphology	1493	CTLA4	ORPHA:2584
HP:0410042	Abnormal liver morphology	130589	GALM	OMIM:618881
HP:0410042	Abnormal liver morphology	130589	GALM	ORPHA:570422
HP:0410042	Abnormal liver morphology	91869	RFT1	ORPHA:244310
HP:0410042	Abnormal liver morphology	91869	RFT1	OMIM:612015
HP:0410042	Abnormal liver morphology	5155	PDGFB	ORPHA:1980
HP:0410042	Abnormal liver morphology	9213	XPR1	ORPHA:1980
HP:0410042	Abnormal liver morphology	5159	PDGFRB	ORPHA:1980
HP:0410042	Abnormal liver morphology	57462	MYORG	ORPHA:1980
HP:0410042	Abnormal liver morphology	6575	SLC20A2	ORPHA:1980
HP:0410042	Abnormal liver morphology	58494	JAM2	ORPHA:1980
HP:0410042	Abnormal liver morphology	55109	AGGF1	ORPHA:90308
HP:0410042	Abnormal liver morphology	57231	SNX14	OMIM:616354
HP:0410042	Abnormal liver morphology	28755	TRAC	OMIM:615387
HP:0410042	Abnormal liver morphology	1371	CPOX	OMIM:618892
HP:0410042	Abnormal liver morphology	1371	CPOX	OMIM:121300
HP:0410042	Abnormal liver morphology	388962	BOLA3	OMIM:614299
HP:0410042	Abnormal liver morphology	4645	MYO5B	OMIM:619868
HP:0410042	Abnormal liver morphology	3039	HBA1	ORPHA:163596
HP:0410042	Abnormal liver morphology	3039	HBA1	OMIM:613978
HP:0410042	Abnormal liver morphology	3040	HBA2	ORPHA:163596
HP:0410042	Abnormal liver morphology	3040	HBA2	OMIM:613978
HP:0410042	Abnormal liver morphology	1244	ABCC2	ORPHA:234
HP:0410042	Abnormal liver morphology	1186	CLCN7	OMIM:618541
HP:0410042	Abnormal liver morphology	1186	CLCN7	ORPHA:667
HP:0410042	Abnormal liver morphology	1186	CLCN7	OMIM:611490
HP:0410042	Abnormal liver morphology	10661	KLF1	ORPHA:46532
HP:0410042	Abnormal liver morphology	10661	KLF1	OMIM:613673
HP:0410042	Abnormal liver morphology	3047	HBG1	ORPHA:46532
HP:0410042	Abnormal liver morphology	3048	HBG2	ORPHA:46532
HP:0410042	Abnormal liver morphology	3048	HBG2	OMIM:613977
HP:0410042	Abnormal liver morphology	8482	SEMA7A	OMIM:619874
HP:0410042	Abnormal liver morphology	2200	FBN1	OMIM:614185
HP:0410042	Abnormal liver morphology	7381	UQCRB	OMIM:615158
HP:0410042	Abnormal liver morphology	54440	SASH3	OMIM:301082
HP:0410042	Abnormal liver morphology	2517	FUCA1	ORPHA:349
HP:0410042	Abnormal liver morphology	2517	FUCA1	OMIM:230000
HP:0410042	Abnormal liver morphology	285362	SUMF1	OMIM:272200
HP:0410042	Abnormal liver morphology	285362	SUMF1	ORPHA:585
HP:0410042	Abnormal liver morphology	166785	MMAA	OMIM:251100
HP:0410042	Abnormal liver morphology	85365	ALG2	ORPHA:79326
HP:0410042	Abnormal liver morphology	85365	ALG2	OMIM:607906
HP:0410042	Abnormal liver morphology	4598	MVK	ORPHA:343
HP:0410042	Abnormal liver morphology	64421	DCLRE1C	OMIM:603554
HP:0410042	Abnormal liver morphology	64421	DCLRE1C	OMIM:602450
HP:0410042	Abnormal liver morphology	64421	DCLRE1C	ORPHA:39041
HP:0410042	Abnormal liver morphology	5896	RAG1	OMIM:603554
HP:0410042	Abnormal liver morphology	5896	RAG1	ORPHA:39041
HP:0410042	Abnormal liver morphology	5896	RAG1	ORPHA:331206
HP:0410042	Abnormal liver morphology	5897	RAG2	OMIM:603554
HP:0410042	Abnormal liver morphology	5897	RAG2	ORPHA:39041
HP:0410042	Abnormal liver morphology	5897	RAG2	ORPHA:331206
HP:0410042	Abnormal liver morphology	5551	PRF1	OMIM:603553
HP:0410042	Abnormal liver morphology	5551	PRF1	ORPHA:540
HP:0410042	Abnormal liver morphology	8676	STX11	OMIM:603552
HP:0410042	Abnormal liver morphology	8676	STX11	ORPHA:540
HP:0410042	Abnormal liver morphology	57169	ZNFX1	OMIM:619644
HP:0410042	Abnormal liver morphology	11311	VPS45	OMIM:615285
HP:0410042	Abnormal liver morphology	10991	SLC38A3	OMIM:619881
HP:0410042	Abnormal liver morphology	7841	MOGS	ORPHA:79330
HP:0410042	Abnormal liver morphology	7841	MOGS	OMIM:606056
HP:0410042	Abnormal liver morphology	2683	B4GALT1	ORPHA:79332
HP:0410042	Abnormal liver morphology	91949	COG7	ORPHA:79333
HP:0410042	Abnormal liver morphology	91949	COG7	OMIM:608779
HP:0410042	Abnormal liver morphology	38	ACAT1	ORPHA:134
HP:0410042	Abnormal liver morphology	7030	TFE3	OMIM:301066
HP:0410042	Abnormal liver morphology	2239	GPC4	ORPHA:373
HP:0410042	Abnormal liver morphology	2239	GPC4	OMIM:312870
HP:0410042	Abnormal liver morphology	2719	GPC3	ORPHA:373
HP:0410042	Abnormal liver morphology	2719	GPC3	OMIM:312870
HP:0410042	Abnormal liver morphology	5966	REL	OMIM:619652
HP:0410042	Abnormal liver morphology	23162	MAPK8IP3	OMIM:618443
HP:0410042	Abnormal liver morphology	5692	PSMB4	OMIM:617591
HP:0410042	Abnormal liver morphology	5698	PSMB9	OMIM:617591
HP:0410042	Abnormal liver morphology	3423	IDS	OMIM:309900
HP:0410042	Abnormal liver morphology	5286	PIK3C2A	OMIM:618440
HP:0410042	Abnormal liver morphology	84168	ANTXR1	OMIM:230740
HP:0410042	Abnormal liver morphology	3172	HNF4A	OMIM:616026
HP:0410042	Abnormal liver morphology	3172	HNF4A	ORPHA:263455
HP:0410042	Abnormal liver morphology	51311	TLR8	OMIM:301078
HP:0410042	Abnormal liver morphology	1616	DAXX	ORPHA:100075
HP:0410042	Abnormal liver morphology	546	ATRX	ORPHA:100075
HP:0410042	Abnormal liver morphology	4615	MYD88	ORPHA:33226
HP:0410042	Abnormal liver morphology	6576	SLC25A1	OMIM:615182
HP:0410042	Abnormal liver morphology	6927	HNF1A	ORPHA:324575
HP:0410042	Abnormal liver morphology	205327	C2orf69	OMIM:619423
HP:0410042	Abnormal liver morphology	4633	MYL2	OMIM:619424
HP:0410042	Abnormal liver morphology	3000	GUCY2D	OMIM:204000
HP:0410042	Abnormal liver morphology	344	APOC2	OMIM:207750
HP:0410042	Abnormal liver morphology	846	CASR	OMIM:239200
HP:0410042	Abnormal liver morphology	846	CASR	ORPHA:417
HP:0410042	Abnormal liver morphology	4594	MMUT	ORPHA:79312
HP:0410042	Abnormal liver morphology	4594	MMUT	ORPHA:289916
HP:0410042	Abnormal liver morphology	4594	MMUT	OMIM:251000
HP:0410042	Abnormal liver morphology	3155	HMGCL	ORPHA:20
HP:0410042	Abnormal liver morphology	3155	HMGCL	OMIM:246450
HP:0410042	Abnormal liver morphology	65992	DDRGK1	OMIM:602557
HP:0410042	Abnormal liver morphology	6448	SGSH	OMIM:252900
HP:0410042	Abnormal liver morphology	10466	COG5	ORPHA:263487
HP:0410042	Abnormal liver morphology	54517	PUS7	OMIM:618342
HP:0410042	Abnormal liver morphology	85476	GFM1	OMIM:609060
HP:0410042	Abnormal liver morphology	8818	DPM2	ORPHA:329178
HP:0410042	Abnormal liver morphology	9842	PLEKHM1	OMIM:618107
HP:0410042	Abnormal liver morphology	10102	TSFM	OMIM:610505
HP:0410042	Abnormal liver morphology	23451	SF3B1	ORPHA:75564
HP:0410042	Abnormal liver morphology	10312	TCIRG1	ORPHA:667
HP:0410042	Abnormal liver morphology	10312	TCIRG1	OMIM:259700
HP:0410042	Abnormal liver morphology	29887	SNX10	ORPHA:667
HP:0410042	Abnormal liver morphology	29887	SNX10	OMIM:615085
HP:0410042	Abnormal liver morphology	8600	TNFSF11	ORPHA:667
HP:0410042	Abnormal liver morphology	5095	PCCA	ORPHA:35
HP:0410042	Abnormal liver morphology	5095	PCCA	OMIM:606054
HP:0410042	Abnormal liver morphology	5096	PCCB	ORPHA:35
HP:0410042	Abnormal liver morphology	5096	PCCB	OMIM:606054
HP:0410042	Abnormal liver morphology	201294	UNC13D	ORPHA:540
HP:0410042	Abnormal liver morphology	6813	STXBP2	ORPHA:540
HP:0410042	Abnormal liver morphology	55315	SLC29A3	OMIM:602782
HP:0410042	Abnormal liver morphology	4695	NDUFA2	OMIM:618235
HP:0410042	Abnormal liver morphology	79868	ALG13	OMIM:300884
HP:0410042	Abnormal liver morphology	51119	SBDS	OMIM:260400
HP:0410042	Abnormal liver morphology	51119	SBDS	ORPHA:811
HP:0410042	Abnormal liver morphology	134218	DNAJC21	OMIM:260400
HP:0410042	Abnormal liver morphology	134218	DNAJC21	ORPHA:811
HP:0410042	Abnormal liver morphology	6729	SRP54	OMIM:260400
HP:0410042	Abnormal liver morphology	6729	SRP54	ORPHA:811
HP:0410042	Abnormal liver morphology	22861	NLRP1	OMIM:617388
HP:0410042	Abnormal liver morphology	5660	PSAP	OMIM:611721
HP:0410042	Abnormal liver morphology	5660	PSAP	OMIM:610539
HP:0410042	Abnormal liver morphology	5660	PSAP	ORPHA:139406
HP:0410042	Abnormal liver morphology	55503	TRPV6	ORPHA:417
HP:0410042	Abnormal liver morphology	1130	LYST	OMIM:214500
HP:0410042	Abnormal liver morphology	114548	NLRP3	ORPHA:575
HP:0410042	Abnormal liver morphology	114548	NLRP3	ORPHA:1451
HP:0410042	Abnormal liver morphology	4125	MAN2B1	OMIM:248500
HP:0410042	Abnormal liver morphology	3756	KCNH1	OMIM:135500
HP:0410042	Abnormal liver morphology	3756	KCNH1	ORPHA:3473
HP:0410042	Abnormal liver morphology	3394	IRF8	OMIM:226990
HP:0410042	Abnormal liver morphology	7468	NSD2	OMIM:619695
HP:0410042	Abnormal liver morphology	11274	USP18	OMIM:617397
HP:0410042	Abnormal liver morphology	4864	NPC1	OMIM:257220
HP:0410042	Abnormal liver morphology	3158	HMGCS2	OMIM:605911
HP:0410042	Abnormal liver morphology	112812	FDX2	OMIM:251900
HP:0410042	Abnormal liver morphology	4556	MT-TE	ORPHA:254864
HP:0410042	Abnormal liver morphology	55630	SLC39A4	OMIM:201100
HP:0410042	Abnormal liver morphology	9451	EIF2AK3	OMIM:226980
HP:0410042	Abnormal liver morphology	9451	EIF2AK3	ORPHA:1667
HP:0410042	Abnormal liver morphology	6007	RHD	OMIM:619462
HP:0410042	Abnormal liver morphology	3560	IL2RB	OMIM:618495
HP:0410042	Abnormal liver morphology	8883	NAE1	OMIM:620210
HP:0410042	Abnormal liver morphology	84701	COX4I2	OMIM:612714
HP:0410042	Abnormal liver morphology	60386	SLC25A19	ORPHA:99742
HP:0410042	Abnormal liver morphology	60386	SLC25A19	OMIM:607196
HP:0410042	Abnormal liver morphology	8943	AP3D1	OMIM:617050
HP:0410042	Abnormal liver morphology	57003	CCDC47	OMIM:618268
HP:0410042	Abnormal liver morphology	57061	HYMAI	ORPHA:96191
HP:0410042	Abnormal liver morphology	5325	PLAGL1	ORPHA:96191
HP:0410042	Abnormal liver morphology	570	BAAT	OMIM:619232
HP:0410042	Abnormal liver morphology	94005	PIGS	OMIM:618143
HP:0410042	Abnormal liver morphology	83706	FERMT3	OMIM:612840
HP:0410042	Abnormal liver morphology	84665	MYPN	ORPHA:75249
HP:0410042	Abnormal liver morphology	2318	FLNC	ORPHA:75249
HP:0410042	Abnormal liver morphology	7139	TNNT2	ORPHA:75249
HP:0410042	Abnormal liver morphology	7137	TNNI3	ORPHA:75249
HP:0410042	Abnormal liver morphology	55636	CHD7	ORPHA:39041
HP:0410042	Abnormal liver morphology	3981	LIG4	ORPHA:39041
HP:0410042	Abnormal liver morphology	3981	LIG4	ORPHA:99812
HP:0410042	Abnormal liver morphology	100	ADA	ORPHA:39041
HP:0410042	Abnormal liver morphology	100	ADA	OMIM:102700
HP:0410042	Abnormal liver morphology	3575	IL7R	ORPHA:39041
HP:0410042	Abnormal liver morphology	3575	IL7R	OMIM:608971
HP:0410042	Abnormal liver morphology	7504	XK	OMIM:300842
HP:0410042	Abnormal liver morphology	8567	MADD	OMIM:619004
HP:0410042	Abnormal liver morphology	8567	MADD	OMIM:619005
HP:0410042	Abnormal liver morphology	374879	ZNF699	OMIM:619488
HP:0410042	Abnormal liver morphology	226	ALDOA	OMIM:611881
HP:0410042	Abnormal liver morphology	3557	IL1RN	OMIM:612852
HP:0410042	Abnormal liver morphology	7284	TUFM	OMIM:610678
HP:0410042	Abnormal liver morphology	2799	GNS	OMIM:252940
HP:0410042	Abnormal liver morphology	10551	AGR2	OMIM:620233
HP:0410042	Abnormal liver morphology	55670	PEX26	ORPHA:772
HP:0410042	Abnormal liver morphology	55670	PEX26	OMIM:614872
HP:0410042	Abnormal liver morphology	55670	PEX26	ORPHA:912
HP:0410042	Abnormal liver morphology	5824	PEX19	ORPHA:772
HP:0410042	Abnormal liver morphology	5824	PEX19	ORPHA:912
HP:0410042	Abnormal liver morphology	5828	PEX2	ORPHA:772
HP:0410042	Abnormal liver morphology	5828	PEX2	OMIM:614866
HP:0410042	Abnormal liver morphology	5828	PEX2	ORPHA:912
HP:0410042	Abnormal liver morphology	8504	PEX3	ORPHA:772
HP:0410042	Abnormal liver morphology	8504	PEX3	OMIM:614882
HP:0410042	Abnormal liver morphology	8504	PEX3	ORPHA:912
HP:0410042	Abnormal liver morphology	9409	PEX16	ORPHA:772
HP:0410042	Abnormal liver morphology	9409	PEX16	OMIM:614876
HP:0410042	Abnormal liver morphology	9409	PEX16	ORPHA:912
HP:0410042	Abnormal liver morphology	5190	PEX6	ORPHA:772
HP:0410042	Abnormal liver morphology	5190	PEX6	OMIM:614862
HP:0410042	Abnormal liver morphology	5190	PEX6	OMIM:614863
HP:0410042	Abnormal liver morphology	5190	PEX6	ORPHA:912
HP:0410042	Abnormal liver morphology	8799	PEX11B	ORPHA:772
HP:0410042	Abnormal liver morphology	8799	PEX11B	ORPHA:912
HP:0410042	Abnormal liver morphology	5193	PEX12	ORPHA:772
HP:0410042	Abnormal liver morphology	5193	PEX12	OMIM:614859
HP:0410042	Abnormal liver morphology	5193	PEX12	ORPHA:912
HP:0410042	Abnormal liver morphology	5193	PEX12	OMIM:266510
HP:0410042	Abnormal liver morphology	5194	PEX13	ORPHA:772
HP:0410042	Abnormal liver morphology	5194	PEX13	ORPHA:912
HP:0410042	Abnormal liver morphology	5195	PEX14	ORPHA:772
HP:0410042	Abnormal liver morphology	5195	PEX14	OMIM:614887
HP:0410042	Abnormal liver morphology	5195	PEX14	ORPHA:912
HP:0410042	Abnormal liver morphology	5192	PEX10	ORPHA:772
HP:0410042	Abnormal liver morphology	5192	PEX10	OMIM:614870
HP:0410042	Abnormal liver morphology	5192	PEX10	ORPHA:912
HP:0410042	Abnormal liver morphology	940	CD28	ORPHA:3162
HP:0410042	Abnormal liver morphology	940	CD28	ORPHA:2584
HP:0410042	Abnormal liver morphology	7133	TNFRSF1B	ORPHA:3162
HP:0410042	Abnormal liver morphology	7133	TNFRSF1B	ORPHA:2584
HP:0410042	Abnormal liver morphology	7390	UROS	OMIM:263700
HP:0410042	Abnormal liver morphology	8651	SOCS1	OMIM:619375
HP:0410042	Abnormal liver morphology	9487	PIGL	OMIM:280000
HP:0410042	Abnormal liver morphology	79651	RHBDF2	ORPHA:2198
HP:0410042	Abnormal liver morphology	22800	RRAS2	ORPHA:648
HP:0410042	Abnormal liver morphology	8216	LZTR1	ORPHA:648
HP:0410042	Abnormal liver morphology	6016	RIT1	ORPHA:648
HP:0410042	Abnormal liver morphology	6237	RRAS	ORPHA:648
HP:0410042	Abnormal liver morphology	5894	RAF1	ORPHA:648
HP:0410042	Abnormal liver morphology	22808	MRAS	ORPHA:648
HP:0410042	Abnormal liver morphology	3845	KRAS	ORPHA:648
HP:0410042	Abnormal liver morphology	3845	KRAS	OMIM:614470
HP:0410042	Abnormal liver morphology	200734	SPRED2	ORPHA:648
HP:0410042	Abnormal liver morphology	4893	NRAS	ORPHA:648
HP:0410042	Abnormal liver morphology	4893	NRAS	OMIM:614470
HP:0410042	Abnormal liver morphology	6654	SOS1	ORPHA:648
HP:0410042	Abnormal liver morphology	6655	SOS2	ORPHA:648
HP:0410042	Abnormal liver morphology	5781	PTPN11	ORPHA:648
HP:0410042	Abnormal liver morphology	5922	RASA2	ORPHA:648
HP:0410042	Abnormal liver morphology	138050	HGSNAT	OMIM:252930
HP:0410042	Abnormal liver morphology	10020	GNE	ORPHA:3166
HP:0410042	Abnormal liver morphology	10020	GNE	OMIM:269921
HP:0410042	Abnormal liver morphology	1719	DHFR	OMIM:613839
HP:0410042	Abnormal liver morphology	64131	XYLT1	ORPHA:370930
HP:0410042	Abnormal liver morphology	129285	PPP1R21	OMIM:619383
HP:0410042	Abnormal liver morphology	51626	DYNC2LI1	OMIM:617088
HP:0410042	Abnormal liver morphology	1604	CD55	OMIM:226300
HP:0410042	Abnormal liver morphology	146059	CDAN1	OMIM:224120
HP:0410042	Abnormal liver morphology	10535	RNASEH2A	OMIM:610333
HP:0410042	Abnormal liver morphology	5696	PSMB8	OMIM:256040
HP:0410042	Abnormal liver morphology	4669	NAGLU	OMIM:252920
HP:0410042	Abnormal liver morphology	26276	VPS33B	OMIM:620010
HP:0410042	Abnormal liver morphology	355	FAS	ORPHA:3261
HP:0410042	Abnormal liver morphology	355	FAS	OMIM:601859
HP:0410042	Abnormal liver morphology	356	FASLG	ORPHA:3261
HP:0410042	Abnormal liver morphology	356	FASLG	OMIM:601859
HP:0410042	Abnormal liver morphology	5580	PRKCD	ORPHA:3261
HP:0410042	Abnormal liver morphology	5580	PRKCD	OMIM:615559
HP:0410042	Abnormal liver morphology	843	CASP10	ORPHA:3261
HP:0410042	Abnormal liver morphology	843	CASP10	OMIM:603909
HP:0410042	Abnormal liver morphology	10125	RASGRP1	ORPHA:3261
HP:0410042	Abnormal liver morphology	144811	LACC1	ORPHA:85414
HP:0410042	Abnormal liver morphology	3569	IL6	ORPHA:85414
HP:0410042	Abnormal liver morphology	6309	SC5D	ORPHA:46059
HP:0410042	Abnormal liver morphology	4574	MT-TS1	OMIM:220110
HP:0410042	Abnormal liver morphology	4570	MT-TN	OMIM:220110
HP:0410042	Abnormal liver morphology	6834	SURF1	OMIM:220110
HP:0410042	Abnormal liver morphology	83700	JAM3	OMIM:613730
HP:0410042	Abnormal liver morphology	3815	KIT	ORPHA:98849
HP:0410042	Abnormal liver morphology	8854	ALDH1A2	OMIM:620025
HP:0410042	Abnormal liver morphology	4758	NEU1	OMIM:256550
HP:0410042	Abnormal liver morphology	4758	NEU1	ORPHA:93399
HP:0410042	Abnormal liver morphology	4758	NEU1	ORPHA:93400
HP:0410042	Abnormal liver morphology	2038	EPB42	ORPHA:822
HP:0410042	Abnormal liver morphology	6521	SLC4A1	ORPHA:822
HP:0410042	Abnormal liver morphology	6710	SPTB	ORPHA:822
HP:0410042	Abnormal liver morphology	6708	SPTA1	ORPHA:822
HP:0410042	Abnormal liver morphology	286	ANK1	ORPHA:822
HP:0410042	Abnormal liver morphology	54968	TMEM70	ORPHA:1194
HP:0410042	Abnormal liver morphology	2130	EWSR1	ORPHA:83469
HP:0410042	Abnormal liver morphology	7490	WT1	ORPHA:83469
HP:0410042	Abnormal liver morphology	6392	SDHD	OMIM:619167
HP:0410042	Abnormal liver morphology	79947	DHDDS	OMIM:613861
HP:0410042	Abnormal liver morphology	55788	LMBRD1	OMIM:277380
HP:0410042	Abnormal liver morphology	10225	CD96	OMIM:211750
HP:0410042	Abnormal liver morphology	79631	EFL1	ORPHA:811
HP:0410042	Abnormal liver morphology	79631	EFL1	OMIM:617941
HP:0410042	Abnormal liver morphology	7535	ZAP70	OMIM:269840
HP:0410042	Abnormal liver morphology	84987	COX14	OMIM:619053
HP:0410042	Abnormal liver morphology	6005	RHAG	OMIM:185000
HP:0410042	Abnormal liver morphology	1738	DLD	ORPHA:2394
HP:0410042	Abnormal liver morphology	1738	DLD	OMIM:246900
HP:0410042	Abnormal liver morphology	5699	PSMB10	OMIM:619175
HP:0410042	Abnormal liver morphology	2538	G6PC1	OMIM:232200
HP:0410042	Abnormal liver morphology	92579	G6PC3	OMIM:612541
HP:0410042	Abnormal liver morphology	9927	MFN2	ORPHA:2398
HP:0410042	Abnormal liver morphology	686	BTD	OMIM:253260
HP:0410042	Abnormal liver morphology	8792	TNFRSF11A	OMIM:612301
HP:0410042	Abnormal liver morphology	7132	TNFRSF1A	OMIM:142680
HP:0410042	Abnormal liver morphology	55858	TMEM165	OMIM:614727
HP:0410042	Abnormal liver morphology	8546	AP3B1	OMIM:608233
HP:0410042	Abnormal liver morphology	5313	PKLR	OMIM:266200
HP:0410042	Abnormal liver morphology	56984	PSMG2	OMIM:619183
HP:0410042	Abnormal liver morphology	23116	TOGARAM1	OMIM:619185
HP:0410042	Abnormal liver morphology	9377	COX5A	OMIM:619064
HP:0410042	Abnormal liver morphology	4591	TRIM37	OMIM:253250
HP:0410042	Abnormal liver morphology	4591	TRIM37	ORPHA:2576
HP:0410042	Abnormal liver morphology	23230	VPS13A	ORPHA:2388
HP:0410042	Abnormal liver morphology	63894	VIPAS39	OMIM:613404
HP:0410042	Abnormal liver morphology	526	ATP6V1B2	ORPHA:3473
HP:0410042	Abnormal liver morphology	3782	KCNN3	ORPHA:3473
HP:0410042	Abnormal liver morphology	3425	IDUA	OMIM:607014
HP:0410042	Abnormal liver morphology	3425	IDUA	OMIM:607015
HP:0410042	Abnormal liver morphology	3425	IDUA	ORPHA:93474
HP:0410042	Abnormal liver morphology	3425	IDUA	ORPHA:93473
HP:0410042	Abnormal liver morphology	3425	IDUA	ORPHA:93476
HP:0410042	Abnormal liver morphology	175	AGA	ORPHA:93
HP:0410042	Abnormal liver morphology	175	AGA	OMIM:208400
HP:0410042	Abnormal liver morphology	4853	NOTCH2	ORPHA:955
HP:0410042	Abnormal liver morphology	374393	FAM111B	OMIM:615704
HP:0410042	Abnormal liver morphology	338328	GPIHBP1	OMIM:615947
HP:0410042	Abnormal liver morphology	4069	LYZ	OMIM:105200
HP:0410042	Abnormal liver morphology	2243	FGA	OMIM:105200
HP:0410042	Abnormal liver morphology	335	APOA1	OMIM:105200
HP:0410042	Abnormal liver morphology	567	B2M	OMIM:105200
HP:0410042	Abnormal liver morphology	1798	DPAGT1	ORPHA:86309
HP:0410042	Abnormal liver morphology	5091	PC	OMIM:266150
HP:0410042	Abnormal liver morphology	4607	MYBPC3	OMIM:115197
HP:0410042	Abnormal liver morphology	51660	MPC1	OMIM:614741
HP:0410042	Abnormal liver morphology	4519	MT-CYB	ORPHA:137675
HP:0410042	Abnormal liver morphology	23600	AMACR	OMIM:214950
HP:0410042	Abnormal liver morphology	9719	ADAMTSL2	OMIM:231050
HP:0410042	Abnormal liver morphology	2624	GATA2	ORPHA:3226
HP:0410042	Abnormal liver morphology	2548	GAA	ORPHA:308552
HP:0410042	Abnormal liver morphology	2548	GAA	OMIM:232300
HP:0410042	Abnormal liver morphology	6288	SAA1	ORPHA:85445
HP:0410042	Abnormal liver morphology	3662	IRF4	ORPHA:3452
HP:0410042	Abnormal liver morphology	388015	RTL1	ORPHA:96334
HP:0410042	Abnormal liver morphology	8788	DLK1	ORPHA:96334
HP:0410042	Abnormal liver morphology	55384	MEG3	ORPHA:96334
HP:0410042	Abnormal liver morphology	3911	LAMA5	OMIM:620076
HP:0410042	Abnormal liver morphology	55343	SLC35C1	ORPHA:99843
HP:0410042	Abnormal liver morphology	8314	BAP1	ORPHA:50251
HP:0410042	Abnormal liver morphology	1028	CDKN1C	OMIM:130650
HP:0410042	Abnormal liver morphology	10984	KCNQ1OT1	OMIM:130650
HP:0410042	Abnormal liver morphology	3481	IGF2	OMIM:130650
HP:0410042	Abnormal liver morphology	3784	KCNQ1	OMIM:130650
HP:0410042	Abnormal liver morphology	162417	NAGS	ORPHA:927
HP:0410042	Abnormal liver morphology	28962	OSTM1	OMIM:259720
HP:0410042	Abnormal liver morphology	10568	SLC34A2	ORPHA:60025
HP:0410042	Abnormal liver morphology	51067	YARS2	OMIM:613561
HP:0410042	Abnormal liver morphology	7351	UCP2	ORPHA:276556
HP:0410042	Abnormal liver morphology	56052	ALG1	OMIM:608540
HP:0410042	Abnormal liver morphology	4054	LTBP3	OMIM:617809
HP:0410042	Abnormal liver morphology	84529	CDIN1	OMIM:615631
HP:0410042	Abnormal liver morphology	11133	KPTN	OMIM:615637
HP:0410042	Abnormal liver morphology	6948	TCN2	OMIM:275350
HP:0410042	Abnormal liver morphology	5156	PDGFRA	OMIM:607685
HP:0410042	Abnormal liver morphology	1776	DNASE1L3	ORPHA:36412
HP:0410042	Abnormal liver morphology	9780	PIEZO1	OMIM:194380
HP:0410042	Abnormal liver morphology	4173	MCM4	OMIM:609981
HP:0410042	Abnormal liver morphology	411	ARSB	OMIM:253200
HP:0410042	Abnormal liver morphology	55593	OTUD5	OMIM:301056
HP:0410042	Abnormal liver morphology	3074	HEXB	OMIM:268800
HP:0410042	Abnormal liver morphology	549	AUH	ORPHA:67046
HP:0410042	Abnormal liver morphology	10525	HYOU1	OMIM:233600
HP:0410042	Abnormal liver morphology	4792	NFKBIA	OMIM:612132
HP:0410042	Abnormal liver morphology	6513	SLC2A1	OMIM:608885
HP:0410042	Abnormal liver morphology	6833	ABCC8	ORPHA:276575
HP:0410042	Abnormal liver morphology	3767	KCNJ11	ORPHA:276580
HP:0410042	Abnormal liver morphology	7547	ZIC3	OMIM:306955
HP:0410042	Abnormal liver morphology	9663	LPIN2	ORPHA:77297
HP:0410042	Abnormal liver morphology	6097	RORC	OMIM:616622
HP:0410042	Abnormal liver morphology	708	C1QBP	OMIM:617713
HP:0410042	Abnormal liver morphology	3248	HPGD	ORPHA:2796
HP:0410042	Abnormal liver morphology	6578	SLCO2A1	ORPHA:2796
HP:0410042	Abnormal liver morphology	91647	ATPAF2	OMIM:604273
HP:0410042	Abnormal liver morphology	84061	MAGT1	OMIM:301031
HP:0410042	Abnormal liver morphology	55210	ATAD3A	OMIM:618810
HP:0410042	Abnormal liver morphology	326625	MMAB	OMIM:251110
HP:0410042	Abnormal liver morphology	5873	RAB27A	ORPHA:79477
HP:0410042	Abnormal liver morphology	760	CA2	ORPHA:2785
HP:0410042	Abnormal liver morphology	2584	GALK1	ORPHA:79237
HP:0410042	Abnormal liver morphology	9997	SCO2	OMIM:604377
HP:0410042	Abnormal liver morphology	10367	MICU1	OMIM:615673
HP:0410042	Abnormal liver morphology	3702	ITK	OMIM:613011
HP:0410042	Abnormal liver morphology	2588	GALNS	OMIM:253000
HP:0410042	Abnormal liver morphology	975	CD81	OMIM:613496
HP:0410042	Abnormal liver morphology	2065	ERBB3	OMIM:133180
HP:0410042	Abnormal liver morphology	26047	CNTNAP2	ORPHA:163681
HP:0410042	Abnormal liver morphology	200894	ARL13B	OMIM:612291
HP:0410042	Abnormal liver morphology	100151683	RNU4ATAC	OMIM:616651
HP:0410042	Abnormal liver morphology	28957	MRPS28	OMIM:618958
HP:0410042	Abnormal liver morphology	3931	LCAT	ORPHA:79292
HP:0410042	Abnormal liver morphology	100506658	OCLN	OMIM:251290
HP:0410042	Abnormal liver morphology	27232	GNMT	OMIM:606664
HP:0410042	Abnormal liver morphology	10577	NPC2	OMIM:607625
HP:0410042	Abnormal liver morphology	26503	SLC17A5	OMIM:269920
HP:0410042	Abnormal liver morphology	2990	GUSB	OMIM:253220
HP:0410042	Abnormal liver morphology	4668	NAGA	ORPHA:79281
HP:0410042	Abnormal liver morphology	4668	NAGA	ORPHA:79279
HP:0410042	Abnormal liver morphology	2639	GCDH	OMIM:231670
HP:0410042	Abnormal liver morphology	8737	RIPK1	OMIM:618852
HP:0410042	Abnormal liver morphology	3636	INPPL1	ORPHA:2746
HP:0410042	Abnormal liver morphology	2582	GALE	OMIM:230350
HP:0410042	Abnormal liver morphology	55112	DYNC2I1	ORPHA:93271
HP:0410042	Abnormal liver morphology	57560	IFT80	ORPHA:93271
HP:0410042	Abnormal liver morphology	57539	WDR35	ORPHA:93271
HP:0410042	Abnormal liver morphology	79659	DYNC2H1	ORPHA:93271
HP:0410042	Abnormal liver morphology	89891	DYNC2I2	ORPHA:93271
HP:0410042	Abnormal liver morphology	30061	SLC40A1	ORPHA:139491
HP:0410042	Abnormal liver morphology	10908	PNPLA6	ORPHA:2377
HP:0410042	Abnormal liver morphology	57817	HAMP	ORPHA:79230
HP:0410042	Abnormal liver morphology	148738	HJV	ORPHA:79230
HP:0410042	Abnormal liver morphology	26146	TRAF3IP1	ORPHA:3156
HP:0410042	Abnormal liver morphology	9657	IQCB1	ORPHA:3156
HP:0410042	Abnormal liver morphology	10806	SDCCAG8	ORPHA:3156
HP:0410042	Abnormal liver morphology	27130	INVS	ORPHA:3156
HP:0410042	Abnormal liver morphology	4867	NPHP1	ORPHA:3156
HP:0410042	Abnormal liver morphology	261734	NPHP4	ORPHA:3156
HP:0410042	Abnormal liver morphology	22897	CEP164	ORPHA:3156
HP:0410042	Abnormal liver morphology	2108	ETFA	OMIM:231680
HP:0410042	Abnormal liver morphology	2109	ETFB	OMIM:231680
HP:0410042	Abnormal liver morphology	2110	ETFDH	OMIM:231680
HP:0410042	Abnormal liver morphology	10068	IL18BP	OMIM:618549
HP:0410042	Abnormal liver morphology	331	XIAP	OMIM:308240
HP:0410042	Abnormal liver morphology	4068	SH2D1A	OMIM:308240
HP:0410042	Abnormal liver morphology	9401	RECQL4	OMIM:218600
HP:0410042	Abnormal liver morphology	51	ACOX1	OMIM:264470
HP:0410042	Abnormal liver morphology	84334	COA8	ORPHA:436271
HP:0410042	Abnormal liver morphology	3032	HADHB	ORPHA:746
HP:0410042	Abnormal liver morphology	3030	HADHA	ORPHA:746
HP:0410042	Abnormal liver morphology	5589	PRKCSH	ORPHA:2924
HP:0410042	Abnormal liver morphology	5589	PRKCSH	OMIM:174050
HP:0410042	Abnormal liver morphology	5167	ENPP1	ORPHA:51608
HP:0410042	Abnormal liver morphology	368	ABCC6	ORPHA:51608
HP:0410042	Abnormal liver morphology	6389	SDHA	OMIM:619259
HP:0410042	Abnormal liver morphology	56922	MCCC1	OMIM:210200
HP:0410042	Abnormal liver morphology	889	KRIT1	OMIM:116860
HP:0410042	Abnormal liver morphology	11232	POLG2	OMIM:618528
HP:0410042	Abnormal liver morphology	84314	TMEM107	ORPHA:564
HP:0410042	Abnormal liver morphology	26123	TCTN3	ORPHA:564
HP:0410042	Abnormal liver morphology	79867	TCTN2	ORPHA:564
HP:0410042	Abnormal liver morphology	80776	B9D2	ORPHA:564
HP:0410042	Abnormal liver morphology	79600	TCTN1	ORPHA:564
HP:0410042	Abnormal liver morphology	57096	RPGRIP1	ORPHA:564
HP:0410042	Abnormal liver morphology	79848	CSPP1	ORPHA:564
HP:0410042	Abnormal liver morphology	80184	CEP290	ORPHA:564
HP:0410042	Abnormal liver morphology	51259	TMEM216	ORPHA:564
HP:0410042	Abnormal liver morphology	57545	CC2D2A	ORPHA:564
HP:0410042	Abnormal liver morphology	57545	CC2D2A	OMIM:612284
HP:0410042	Abnormal liver morphology	79583	TMEM231	ORPHA:564
HP:0410042	Abnormal liver morphology	91147	TMEM67	ORPHA:564
HP:0410042	Abnormal liver morphology	79770	TXNDC15	ORPHA:564
HP:0410042	Abnormal liver morphology	27077	B9D1	ORPHA:564
HP:0410042	Abnormal liver morphology	23322	RPGRIP1L	ORPHA:564
HP:0410042	Abnormal liver morphology	54903	MKS1	ORPHA:564
HP:0410042	Abnormal liver morphology	65062	TMEM237	ORPHA:564
HP:0410042	Abnormal liver morphology	2321	FLT1	ORPHA:275555
HP:0410042	Abnormal liver morphology	219736	STOX1	ORPHA:275555
HP:0410042	Abnormal liver morphology	10699	CORIN	ORPHA:275555
HP:0410042	Abnormal liver morphology	11277	TREX1	ORPHA:247691
HP:0410042	Abnormal liver morphology	538	ATP7A	ORPHA:198
HP:0410042	Abnormal liver morphology	10043	TOM1	ORPHA:391487
HP:0410042	Abnormal liver morphology	50943	FOXP3	OMIM:304790
HP:0410042	Abnormal liver morphology	50943	FOXP3	ORPHA:37042
HP:0410042	Abnormal liver morphology	7174	TPP2	ORPHA:444463
HP:0410042	Abnormal liver morphology	716	C1S	OMIM:613783
HP:0410042	Abnormal liver morphology	915	CD3D	ORPHA:169160
HP:0410042	Abnormal liver morphology	916	CD3E	ORPHA:169160
HP:0410042	Abnormal liver morphology	919	CD247	ORPHA:169160
HP:0410042	Abnormal liver morphology	9095	TBX19	ORPHA:199296
HP:0410042	Abnormal liver morphology	5297	PI4KA	ORPHA:436252
HP:0410042	Abnormal liver morphology	6850	SYK	OMIM:619381
HP:0410042	Abnormal liver morphology	84818	IL17RC	ORPHA:1334
HP:0410042	Abnormal liver morphology	64581	CLEC7A	ORPHA:1334
HP:0410042	Abnormal liver morphology	23765	IL17RA	ORPHA:1334
HP:0410042	Abnormal liver morphology	10758	TRAF3IP2	ORPHA:1334
HP:0410042	Abnormal liver morphology	112744	IL17F	ORPHA:1334
HP:0410042	Abnormal liver morphology	54	ACP5	ORPHA:1855
HP:0410042	Abnormal liver morphology	6929	TCF3	ORPHA:33110
HP:0410042	Abnormal liver morphology	973	CD79A	ORPHA:33110
HP:0410042	Abnormal liver morphology	974	CD79B	ORPHA:33110
HP:0410042	Abnormal liver morphology	3543	IGLL1	ORPHA:33110
HP:0410042	Abnormal liver morphology	3507	IGHM	ORPHA:33110
HP:0410042	Abnormal liver morphology	29760	BLNK	ORPHA:33110
HP:0410042	Abnormal liver morphology	5295	PIK3R1	ORPHA:33110
HP:0410042	Abnormal liver morphology	56262	LRRC8A	ORPHA:33110
HP:0410042	Abnormal liver morphology	3043	HBB	ORPHA:231222
HP:0410042	Abnormal liver morphology	55240	STEAP3	ORPHA:300298
HP:0410042	Abnormal liver morphology	55240	STEAP3	OMIM:615234
HP:0410042	Abnormal liver morphology	2512	FTL	ORPHA:254704
HP:0410042	Abnormal liver morphology	51218	GLRX5	OMIM:616860
HP:0410042	Abnormal liver morphology	5277	PIGA	OMIM:300868
HP:0410042	Abnormal liver morphology	54914	FOCAD	OMIM:619991
HP:0410042	Abnormal liver morphology	4891	SLC11A2	OMIM:206100
HP:0410042	Abnormal liver morphology	1356	CP	ORPHA:48818
HP:0410042	Abnormal liver morphology	2495	FTH1	OMIM:615517
HP:0410042	Abnormal liver morphology	10667	FARS2	OMIM:614946
HP:0410042	Abnormal liver morphology	54532	USP53	OMIM:619658
HP:0410042	Abnormal liver morphology	57410	SCYL1	OMIM:616719
HP:0410042	Abnormal liver morphology	9420	CYP7B1	OMIM:613812
HP:0410042	Abnormal liver morphology	60561	RINT1	OMIM:618641
HP:0410042	Abnormal liver morphology	8772	FADD	OMIM:613759
HP:0410042	Abnormal liver morphology	537	ATP6AP1	OMIM:300972
HP:0410042	Abnormal liver morphology	5373	PMM2	ORPHA:79318
HP:0410042	Abnormal liver morphology	51651	PTRH2	ORPHA:456312
HP:0410042	Abnormal liver morphology	462	SERPINC1	ORPHA:82
HP:0410042	Abnormal liver morphology	28234	SLCO1B3	ORPHA:3111
HP:0410042	Abnormal liver morphology	10599	SLCO1B1	ORPHA:3111
HP:0410042	Abnormal liver morphology	191	AHCY	OMIM:613752
HP:0410042	Abnormal liver morphology	57217	TTC7A	OMIM:243150
HP:0410042	Abnormal liver morphology	84342	COG8	OMIM:611182
HP:0410042	Abnormal liver morphology	93	ACVR2B	OMIM:613751
HP:0410042	Abnormal liver morphology	10112	KIF20A	OMIM:619433
HP:0410042	Abnormal liver morphology	1536	CYBB	OMIM:306400
HP:0410042	Abnormal liver morphology	1536	CYBB	ORPHA:379
HP:0410042	Abnormal liver morphology	5244	ABCB4	ORPHA:69663
HP:0410042	Abnormal liver morphology	4688	NCF2	OMIM:233710
HP:0410042	Abnormal liver morphology	4688	NCF2	ORPHA:379
HP:0410042	Abnormal liver morphology	653361	NCF1	OMIM:233700
HP:0410042	Abnormal liver morphology	653361	NCF1	ORPHA:379
HP:0410042	Abnormal liver morphology	1535	CYBA	OMIM:233690
HP:0410042	Abnormal liver morphology	1535	CYBA	ORPHA:379
HP:0410042	Abnormal liver morphology	51135	IRAK4	OMIM:607676
HP:0410042	Abnormal liver morphology	3514	IGKC	ORPHA:183675
HP:0410042	Abnormal liver morphology	3501	IGHG2	ORPHA:183675
HP:0410042	Abnormal liver morphology	4689	NCF4	ORPHA:379
HP:0410042	Abnormal liver morphology	79415	CYBC1	ORPHA:379
HP:0410042	Abnormal liver morphology	5314	PKHD1	ORPHA:53035
HP:0410042	Abnormal liver morphology	1075	CTSC	ORPHA:678
HP:0410042	Abnormal liver morphology	168667	BMPER	OMIM:608022
HP:0410042	Abnormal liver morphology	10166	SLC25A15	OMIM:238970
HP:0410042	Abnormal liver morphology	721	C4B	OMIM:614379
HP:0410042	Abnormal liver morphology	326	AIRE	OMIM:240300
HP:0410042	Abnormal liver morphology	5994	RFXAP	ORPHA:572
HP:0410042	Abnormal liver morphology	4261	CIITA	ORPHA:572
HP:0410042	Abnormal liver morphology	5993	RFX5	ORPHA:572
HP:0410042	Abnormal liver morphology	8625	RFXANK	ORPHA:572
HP:0410042	Abnormal liver morphology	745	MYRF	OMIM:618280
HP:0410042	Abnormal liver morphology	6514	SLC2A2	ORPHA:2088
HP:0410043	Abnormal neural tube morphology	51684	SUFU	ORPHA:475
HP:0410043	Abnormal neural tube morphology	54806	AHI1	ORPHA:475
HP:0410043	Abnormal neural tube morphology	54806	AHI1	ORPHA:220493
HP:0410043	Abnormal neural tube morphology	153241	CEP120	ORPHA:475
HP:0410043	Abnormal neural tube morphology	153241	CEP120	ORPHA:220493
HP:0410043	Abnormal neural tube morphology	153241	CEP120	OMIM:616300
HP:0410043	Abnormal neural tube morphology	65250	CPLANE1	ORPHA:475
HP:0410043	Abnormal neural tube morphology	9731	CEP104	ORPHA:475
HP:0410043	Abnormal neural tube morphology	23247	KATNIP	ORPHA:475
HP:0410043	Abnormal neural tube morphology	95681	CEP41	ORPHA:475
HP:0410043	Abnormal neural tube morphology	95681	CEP41	ORPHA:220493
HP:0410043	Abnormal neural tube morphology	10464	PIBF1	ORPHA:475
HP:0410043	Abnormal neural tube morphology	80210	ARMC9	ORPHA:475
HP:0410043	Abnormal neural tube morphology	23116	TOGARAM1	ORPHA:475
HP:0410043	Abnormal neural tube morphology	25776	CBY1	ORPHA:475
HP:0410043	Abnormal neural tube morphology	403	ARL3	ORPHA:475
HP:0410043	Abnormal neural tube morphology	3769	KCNJ13	ORPHA:65
HP:0410043	Abnormal neural tube morphology	343035	RD3	ORPHA:65
HP:0410043	Abnormal neural tube morphology	145226	RDH12	ORPHA:65
HP:0410043	Abnormal neural tube morphology	1406	CRX	ORPHA:65
HP:0410043	Abnormal neural tube morphology	64802	NMNAT1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	10383	TUBB4B	ORPHA:65
HP:0410043	Abnormal neural tube morphology	9742	IFT140	ORPHA:65
HP:0410043	Abnormal neural tube morphology	85015	USP45	ORPHA:65
HP:0410043	Abnormal neural tube morphology	6121	RPE65	ORPHA:65
HP:0410043	Abnormal neural tube morphology	23418	CRB1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	5130	PCYT1A	ORPHA:65
HP:0410043	Abnormal neural tube morphology	9657	IQCB1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	392255	GDF6	ORPHA:65
HP:0410043	Abnormal neural tube morphology	23746	AIPL1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	3000	GUCY2D	ORPHA:65
HP:0410043	Abnormal neural tube morphology	9227	LRAT	ORPHA:65
HP:0410043	Abnormal neural tube morphology	55812	SPATA7	ORPHA:65
HP:0410043	Abnormal neural tube morphology	7287	TULP1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	167691	LCA5	ORPHA:65
HP:0410043	Abnormal neural tube morphology	3614	IMPDH1	ORPHA:65
HP:0410043	Abnormal neural tube morphology	341640	FREM2	ORPHA:2052
HP:0410043	Abnormal neural tube morphology	80144	FRAS1	ORPHA:2052
HP:0410043	Abnormal neural tube morphology	80144	FRAS1	OMIM:219000
HP:0410043	Abnormal neural tube morphology	23426	GRIP1	ORPHA:2052
HP:0410043	Abnormal neural tube morphology	51524	TMEM138	OMIM:614465
HP:0410043	Abnormal neural tube morphology	51524	TMEM138	ORPHA:2318
HP:0410043	Abnormal neural tube morphology	57514	ARHGAP31	OMIM:100300
HP:0410043	Abnormal neural tube morphology	57514	ARHGAP31	ORPHA:974
HP:0410043	Abnormal neural tube morphology	2261	FGFR3	ORPHA:93274
HP:0410043	Abnormal neural tube morphology	84172	POLR1B	ORPHA:861
HP:0410043	Abnormal neural tube morphology	9533	POLR1C	ORPHA:861
HP:0410043	Abnormal neural tube morphology	51082	POLR1D	ORPHA:861
HP:0410043	Abnormal neural tube morphology	6949	TCOF1	ORPHA:861
HP:0410043	Abnormal neural tube morphology	4867	NPHP1	ORPHA:220497
HP:0410043	Abnormal neural tube morphology	3516	RBPJ	ORPHA:974
HP:0410043	Abnormal neural tube morphology	4851	NOTCH1	ORPHA:974
HP:0410043	Abnormal neural tube morphology	57572	DOCK6	ORPHA:974
HP:0410043	Abnormal neural tube morphology	285203	EOGT	ORPHA:974
HP:0410043	Abnormal neural tube morphology	57688	ZSWIM6	OMIM:603671
HP:0410043	Abnormal neural tube morphology	57688	ZSWIM6	ORPHA:1827
HP:0410043	Abnormal neural tube morphology	729920	CRPPA	OMIM:614643
HP:0410043	Abnormal neural tube morphology	23090	ZNF423	ORPHA:2318
HP:0410043	Abnormal neural tube morphology	2260	FGFR1	ORPHA:2117
HP:0410043	Abnormal neural tube morphology	3912	LAMB1	OMIM:615191
HP:0410043	Abnormal neural tube morphology	3912	LAMB1	ORPHA:352682
HP:0410043	Abnormal neural tube morphology	4488	MSX2	ORPHA:60015
HP:0410043	Abnormal neural tube morphology	60529	ALX4	ORPHA:60015
HP:0410043	Abnormal neural tube morphology	3339	HSPG2	OMIM:224410
HP:0410043	Abnormal neural tube morphology	160418	TMTC3	OMIM:617255
HP:0410043	Abnormal neural tube morphology	6608	SMO	OMIM:241800
HP:0410043	Abnormal neural tube morphology	10992	SF3B2	OMIM:164210
HP:0410043	Abnormal neural tube morphology	29925	GMPPB	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	79147	FKRP	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	79147	FKRP	OMIM:236670
HP:0410043	Abnormal neural tube morphology	29954	POMT2	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	29954	POMT2	OMIM:236670
HP:0410043	Abnormal neural tube morphology	84197	POMK	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	55624	POMGNT1	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	10585	POMT1	ORPHA:370959
HP:0410043	Abnormal neural tube morphology	10585	POMT1	OMIM:236670
HP:0410043	Abnormal neural tube morphology	200894	ARL13B	OMIM:612291
HP:0410043	Abnormal neural tube morphology	219854	TMEM218	OMIM:619562
HP:0410043	Abnormal neural tube morphology	56623	INPP5E	ORPHA:1454
HP:0410043	Abnormal neural tube morphology	56603	CYP26B1	OMIM:614416
HP:0410043	Abnormal neural tube morphology	5062	PAK2	ORPHA:1571
HP:0410043	Abnormal neural tube morphology	26005	C2CD3	OMIM:615948
HP:0410043	Abnormal neural tube morphology	9215	LARGE1	OMIM:236670
HP:0410043	Abnormal neural tube morphology	2218	FKTN	OMIM:236670
HP:0410043	Abnormal neural tube morphology	9896	FIG4	OMIM:216340
HP:0410043	Abnormal neural tube morphology	9896	FIG4	ORPHA:3472
HP:0410043	Abnormal neural tube morphology	2737	GLI3	ORPHA:672
HP:0410043	Abnormal neural tube morphology	55697	VAC14	ORPHA:3472
HP:0410043	Abnormal neural tube morphology	9928	KIF14	OMIM:616258
HP:0410043	Abnormal neural tube morphology	9928	KIF14	OMIM:617914
HP:0410043	Abnormal neural tube morphology	55636	CHD7	OMIM:214800
HP:0410043	Abnormal neural tube morphology	10535	RNASEH2A	ORPHA:51
HP:0410043	Abnormal neural tube morphology	84153	RNASEH2C	ORPHA:51
HP:0410043	Abnormal neural tube morphology	25939	SAMHD1	ORPHA:51
HP:0410043	Abnormal neural tube morphology	79621	RNASEH2B	ORPHA:51
HP:0410043	Abnormal neural tube morphology	103	ADAR	ORPHA:51
HP:0410043	Abnormal neural tube morphology	11277	TREX1	ORPHA:51
HP:0410043	Abnormal neural tube morphology	100147744	RNU7-1	ORPHA:51
HP:0410043	Abnormal neural tube morphology	134353	LSM11	ORPHA:51
HP:0410043	Abnormal neural tube morphology	64135	IFIH1	ORPHA:51
HP:0410043	Abnormal neural tube morphology	10262	SF3B4	ORPHA:1788
HP:0410043	Abnormal neural tube morphology	64093	SMOC1	ORPHA:1106
HP:0410043	Abnormal neural tube morphology	215	ABCD1	ORPHA:139396
HP:0410043	Abnormal neural tube morphology	1593	CYP27A1	ORPHA:909
HP:0410043	Abnormal neural tube morphology	22943	DKK1	ORPHA:268882
HP:0410043	Abnormal neural tube morphology	5921	RASA1	ORPHA:90307
HP:0410043	Abnormal neural tube morphology	686	BTD	ORPHA:79241
HP:0410043	Abnormal neural tube morphology	4771	NF2	ORPHA:637
HP:0410043	Abnormal neural tube morphology	79158	GNPTAB	OMIM:252500
HP:0410043	Abnormal neural tube morphology	2720	GLB1	OMIM:253010
HP:0410043	Abnormal neural tube morphology	2131	EXT1	ORPHA:321
HP:0410043	Abnormal neural tube morphology	2131	EXT1	OMIM:133700
HP:0410043	Abnormal neural tube morphology	2132	EXT2	ORPHA:321
HP:0410043	Abnormal neural tube morphology	2132	EXT2	OMIM:133701
HP:0410043	Abnormal neural tube morphology	2588	GALNS	OMIM:253000
HP:0410043	Abnormal neural tube morphology	1280	COL2A1	OMIM:183900
HP:0410043	Abnormal neural tube morphology	128240	NAXE	OMIM:617186
HP:0410043	Abnormal neural tube morphology	411	ARSB	OMIM:253200
HP:0410043	Abnormal neural tube morphology	81788	NUAK2	OMIM:619452
HP:0410043	Abnormal neural tube morphology	374654	KIF7	OMIM:614120
HP:0410043	Abnormal neural tube morphology	374654	KIF7	ORPHA:2189
HP:0410043	Abnormal neural tube morphology	57545	CC2D2A	OMIM:612284
HP:0410043	Abnormal neural tube morphology	57545	CC2D2A	ORPHA:564
HP:0410043	Abnormal neural tube morphology	9786	KIAA0586	OMIM:616546
HP:0410043	Abnormal neural tube morphology	80184	CEP290	OMIM:611134
HP:0410043	Abnormal neural tube morphology	80184	CEP290	ORPHA:564
HP:0410043	Abnormal neural tube morphology	57216	VANGL2	OMIM:182940
HP:0410043	Abnormal neural tube morphology	6347	CCL2	OMIM:182940
HP:0410043	Abnormal neural tube morphology	81839	VANGL1	OMIM:182940
HP:0410043	Abnormal neural tube morphology	6862	TBXT	OMIM:182940
HP:0410043	Abnormal neural tube morphology	80199	FUZ	OMIM:182940
HP:0410043	Abnormal neural tube morphology	219844	HYLS1	OMIM:236680
HP:0410043	Abnormal neural tube morphology	219844	HYLS1	ORPHA:2189
HP:0410043	Abnormal neural tube morphology	3239	HOXD13	ORPHA:887
HP:0410043	Abnormal neural tube morphology	84314	TMEM107	ORPHA:564
HP:0410043	Abnormal neural tube morphology	26123	TCTN3	ORPHA:564
HP:0410043	Abnormal neural tube morphology	79867	TCTN2	ORPHA:564
HP:0410043	Abnormal neural tube morphology	80776	B9D2	ORPHA:564
HP:0410043	Abnormal neural tube morphology	80776	B9D2	OMIM:614175
HP:0410043	Abnormal neural tube morphology	79600	TCTN1	ORPHA:564
HP:0410043	Abnormal neural tube morphology	57096	RPGRIP1	ORPHA:564
HP:0410043	Abnormal neural tube morphology	79848	CSPP1	ORPHA:564
HP:0410043	Abnormal neural tube morphology	51259	TMEM216	ORPHA:564
HP:0410043	Abnormal neural tube morphology	51259	TMEM216	OMIM:603194
HP:0410043	Abnormal neural tube morphology	79583	TMEM231	ORPHA:564
HP:0410043	Abnormal neural tube morphology	91147	TMEM67	ORPHA:564
HP:0410043	Abnormal neural tube morphology	79770	TXNDC15	ORPHA:564
HP:0410043	Abnormal neural tube morphology	27077	B9D1	ORPHA:564
HP:0410043	Abnormal neural tube morphology	23322	RPGRIP1L	ORPHA:564
HP:0410043	Abnormal neural tube morphology	23322	RPGRIP1L	OMIM:611561
HP:0410043	Abnormal neural tube morphology	54903	MKS1	ORPHA:564
HP:0410043	Abnormal neural tube morphology	54903	MKS1	OMIM:249000
HP:0410043	Abnormal neural tube morphology	65062	TMEM237	ORPHA:564
HP:0410043	Abnormal neural tube morphology	11041	B4GAT1	OMIM:615287
HP:0410043	Abnormal neural tube morphology	55521	TRIM36	OMIM:206500
HP:0410043	Abnormal neural tube morphology	51339	DACT1	ORPHA:63260
HP:0410043	Abnormal neural tube morphology	124997	WDR81	OMIM:617967
HP:0410043	Abnormal neural tube morphology	27238	GPKOW	ORPHA:2570
HP:0410043	Abnormal neural tube morphology	6913	TBX15	OMIM:260660
HP:0410043	Abnormal neural tube morphology	54820	NDE1	OMIM:605013
HP:0410043	Abnormal neural tube morphology	55165	CEP55	OMIM:236500
HP:0410043	Abnormal neural tube morphology	55640	FLVCR2	OMIM:225790
HP:0410043	Abnormal neural tube morphology	11198	SUPT16H	OMIM:619480
HP:0410043	Abnormal neural tube morphology	4010	LMX1B	OMIM:161200
HP:0410043	Abnormal neural tube morphology	284058	KANSL1	ORPHA:363965
HP:0410043	Abnormal neural tube morphology	284058	KANSL1	ORPHA:363958
HP:0410043	Abnormal neural tube morphology	6628	SNRPB	ORPHA:1393
HP:0410043	Abnormal neural tube morphology	2187	FANCB	ORPHA:3412
HP:0410043	Abnormal neural tube morphology	2187	FANCB	ORPHA:84
HP:0410043	Abnormal neural tube morphology	5077	PAX3	ORPHA:894
HP:0410043	Abnormal neural tube morphology	5077	PAX3	OMIM:193500
HP:0410043	Abnormal neural tube morphology	4763	NF1	OMIM:162200
HP:0410043	Abnormal neural tube morphology	672	BRCA1	ORPHA:84
HP:0410043	Abnormal neural tube morphology	10459	MAD2L2	ORPHA:84
HP:0410043	Abnormal neural tube morphology	7516	XRCC2	ORPHA:84
HP:0410043	Abnormal neural tube morphology	29089	UBE2T	ORPHA:84
HP:0410043	Abnormal neural tube morphology	675	BRCA2	ORPHA:84
HP:0410043	Abnormal neural tube morphology	55120	FANCL	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2177	FANCD2	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2175	FANCA	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2176	FANCC	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2178	FANCE	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2188	FANCF	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2189	FANCG	ORPHA:84
HP:0410043	Abnormal neural tube morphology	5888	RAD51	ORPHA:84
HP:0410043	Abnormal neural tube morphology	5889	RAD51C	ORPHA:84
HP:0410043	Abnormal neural tube morphology	55159	RFWD3	ORPHA:84
HP:0410043	Abnormal neural tube morphology	83990	BRIP1	ORPHA:84
HP:0410043	Abnormal neural tube morphology	57697	FANCM	ORPHA:84
HP:0410043	Abnormal neural tube morphology	79728	PALB2	ORPHA:84
HP:0410043	Abnormal neural tube morphology	84464	SLX4	ORPHA:84
HP:0410043	Abnormal neural tube morphology	2072	ERCC4	ORPHA:84
HP:0410043	Abnormal neural tube morphology	55215	FANCI	ORPHA:84
HP:0410043	Abnormal neural tube morphology	9939	RBM8A	OMIM:274000
HP:0410043	Abnormal neural tube morphology	1312	COMT	ORPHA:567
HP:0410043	Abnormal neural tube morphology	221037	JMJD1C	ORPHA:567
HP:0410043	Abnormal neural tube morphology	2812	GP1BB	ORPHA:567
HP:0410043	Abnormal neural tube morphology	6239	RREB1	ORPHA:567
HP:0410043	Abnormal neural tube morphology	6899	TBX1	ORPHA:567
HP:0410043	Abnormal neural tube morphology	7290	HIRA	ORPHA:567
HP:0410043	Abnormal neural tube morphology	9632	SEC24C	ORPHA:567
HP:0410043	Abnormal neural tube morphology	7353	UFD1	ORPHA:567
HP:0410043	Abnormal neural tube morphology	421	ARVCF	ORPHA:567
HP:0410043	Abnormal neural tube morphology	3265	HRAS	ORPHA:2874
HP:0410043	Abnormal neural tube morphology	9573	GDF3	ORPHA:2345
HP:0410043	Abnormal neural tube morphology	4222	MEOX1	ORPHA:2345
HP:0410043	Abnormal neural tube morphology	29968	PSAT1	OMIM:616038
HP:0410043	Abnormal neural tube morphology	2313	FLI1	ORPHA:2308
HP:0410043	Abnormal neural tube morphology	60386	SLC25A19	ORPHA:99742
HP:0410043	Abnormal neural tube morphology	26227	PHGDH	OMIM:256520
HP:0410043	Abnormal neural tube morphology	6309	SC5D	ORPHA:46059
HP:0410043	Abnormal neural tube morphology	148789	B3GALNT2	ORPHA:588
HP:0410043	Abnormal neural tube morphology	4854	NOTCH3	OMIM:130720
HP:0410043	Abnormal neural tube morphology	4854	NOTCH3	ORPHA:2789
HP:0410043	Abnormal neural tube morphology	2697	GJA1	ORPHA:1010
HP:0410043	Abnormal neural tube morphology	7476	WNT7A	OMIM:276820
HP:0410043	Abnormal neural tube morphology	7547	ZIC3	OMIM:306955
HP:0410043	Abnormal neural tube morphology	168667	BMPER	ORPHA:66637
HP:0410043	Abnormal neural tube morphology	10093	ARPC4	OMIM:620141
HP:0410043	Abnormal neural tube morphology	25942	SIN3A	ORPHA:94065
HP:0410043	Abnormal neural tube morphology	8481	OFD1	OMIM:311200
HP:0410043	Abnormal neural tube morphology	3481	IGF2	ORPHA:2128
HP:0410043	Abnormal neural tube morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0410043	Abnormal neural tube morphology	283120	H19	ORPHA:2128
HP:0410043	Abnormal neural tube morphology	57167	SALL4	ORPHA:233
HP:0410043	Abnormal neural tube morphology	57167	SALL4	OMIM:607323
HP:0410043	Abnormal neural tube morphology	9935	MAFB	ORPHA:233
HP:0410043	Abnormal neural tube morphology	1123	CHN1	ORPHA:233
HP:0410043	Abnormal neural tube morphology	6095	RORA	OMIM:618060
HP:0410043	Abnormal neural tube morphology	3981	LIG4	ORPHA:235
HP:0410043	Abnormal neural tube morphology	54888	NSUN2	ORPHA:235
HP:0410043	Abnormal neural tube morphology	64840	PORCN	OMIM:305600
HP:0410043	Abnormal neural tube morphology	9791	PTDSS1	OMIM:151050
HP:0410043	Abnormal neural tube morphology	9158	FIBP	ORPHA:500095
HP:0410043	Abnormal neural tube morphology	1387	CREBBP	OMIM:180849
HP:0410043	Abnormal neural tube morphology	2033	EP300	OMIM:180849
HP:0410043	Abnormal neural tube morphology	7148	TNXB	ORPHA:230839
HP:0410043	Abnormal neural tube morphology	92002	CCNQ	OMIM:300707
HP:0410043	Abnormal neural tube morphology	5648	MASP1	OMIM:257920
HP:0410043	Abnormal neural tube morphology	5648	MASP1	ORPHA:293843
HP:0410043	Abnormal neural tube morphology	91754	NEK9	ORPHA:64754
HP:0410043	Abnormal neural tube morphology	60	ACTB	ORPHA:64755
HP:0410043	Abnormal neural tube morphology	6804	STX1A	ORPHA:904
HP:0410043	Abnormal neural tube morphology	7461	CLIP2	ORPHA:904
HP:0410043	Abnormal neural tube morphology	84277	DNAJC30	ORPHA:904
HP:0410043	Abnormal neural tube morphology	8468	FKBP6	ORPHA:904
HP:0410043	Abnormal neural tube morphology	5982	RFC2	ORPHA:904
HP:0410043	Abnormal neural tube morphology	2969	GTF2I	ORPHA:904
HP:0410043	Abnormal neural tube morphology	3984	LIMK1	ORPHA:904
HP:0410043	Abnormal neural tube morphology	9569	GTF2IRD1	ORPHA:904
HP:0410043	Abnormal neural tube morphology	155382	VPS37D	ORPHA:904
HP:0410043	Abnormal neural tube morphology	155368	METTL27	ORPHA:904
HP:0410043	Abnormal neural tube morphology	114049	BUD23	ORPHA:904
HP:0410043	Abnormal neural tube morphology	7458	EIF4H	ORPHA:904
HP:0410043	Abnormal neural tube morphology	84163	GTF2IRD2	ORPHA:904
HP:0410043	Abnormal neural tube morphology	9275	BCL7B	ORPHA:904
HP:0410043	Abnormal neural tube morphology	26608	TBL2	ORPHA:904
HP:0410043	Abnormal neural tube morphology	653361	NCF1	ORPHA:904
HP:0410043	Abnormal neural tube morphology	135886	TMEM270	ORPHA:904
HP:0410043	Abnormal neural tube morphology	51085	MLXIPL	ORPHA:904
HP:0410043	Abnormal neural tube morphology	9031	BAZ1B	ORPHA:904
HP:0410043	Abnormal neural tube morphology	2006	ELN	ORPHA:904
HP:0410043	Abnormal neural tube morphology	145173	B3GLCT	ORPHA:709
HP:0410043	Abnormal neural tube morphology	7545	ZIC1	OMIM:616602
HP:0410043	Abnormal neural tube morphology	7545	ZIC1	OMIM:618736
HP:0410043	Abnormal neural tube morphology	5781	PTPN11	ORPHA:500
HP:0410043	Abnormal neural tube morphology	5781	PTPN11	OMIM:151100
HP:0410043	Abnormal neural tube morphology	673	BRAF	ORPHA:500
HP:0410043	Abnormal neural tube morphology	5894	RAF1	ORPHA:500
HP:0410043	Abnormal neural tube morphology	526	ATP6V1B2	ORPHA:79500
HP:0410043	Abnormal neural tube morphology	57465	TBC1D24	ORPHA:79500
HP:0410043	Abnormal neural tube morphology	80781	COL18A1	OMIM:267750
HP:0410043	Abnormal neural tube morphology	8517	IKBKG	ORPHA:464
HP:0410043	Abnormal neural tube morphology	1615	DARS1	OMIM:615281
HP:0410043	Abnormal neural tube morphology	51715	RAB23	OMIM:201000
HP:0410043	Abnormal neural tube morphology	3664	IRF6	OMIM:119500
HP:0410043	Abnormal neural tube morphology	6911	TBX6	ORPHA:1797
HP:0410043	Abnormal neural tube morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0410043	Abnormal neural tube morphology	139285	AMER1	OMIM:300373
HP:0410043	Abnormal neural tube morphology	139285	AMER1	ORPHA:2780
HP:0410043	Abnormal neural tube morphology	4621	MYH3	OMIM:193700
HP:0410043	Abnormal neural tube morphology	4621	MYH3	ORPHA:2990
HP:0410043	Abnormal neural tube morphology	57492	ARID1B	OMIM:135900
HP:0410043	Abnormal neural tube morphology	3756	KCNH1	OMIM:135500
HP:0410043	Abnormal neural tube morphology	650	BMP2	OMIM:617877
HP:0410043	Abnormal neural tube morphology	134701	RIPPLY2	ORPHA:2311
HP:0410043	Abnormal neural tube morphology	10683	DLL3	ORPHA:2311
HP:0410043	Abnormal neural tube morphology	3955	LFNG	ORPHA:2311
HP:0410043	Abnormal neural tube morphology	84667	HES7	ORPHA:2311
HP:0410043	Abnormal neural tube morphology	84667	HES7	OMIM:613686
HP:0410043	Abnormal neural tube morphology	145873	MESP2	ORPHA:2311
HP:0410043	Abnormal neural tube morphology	10584	COLEC10	ORPHA:293843
HP:0410043	Abnormal neural tube morphology	78989	COLEC11	ORPHA:293843
HP:0410043	Abnormal neural tube morphology	9820	CUL7	OMIM:273750
HP:0410043	Abnormal neural tube morphology	2316	FLNA	ORPHA:1826
HP:0410043	Abnormal neural tube morphology	6885	MAP3K7	ORPHA:1826
HP:0410043	Abnormal neural tube morphology	1146	CHRNG	ORPHA:2990
HP:0410043	Abnormal neural tube morphology	3166	HMX1	OMIM:612109
HP:0410043	Abnormal neural tube morphology	147372	CCBE1	OMIM:235510
HP:0410043	Abnormal neural tube morphology	6223	RPS19	OMIM:105650
HP:0410043	Abnormal neural tube morphology	23299	BICD2	OMIM:618291
HP:0410043	Abnormal neural tube morphology	22827	PUF60	ORPHA:508488
HP:0410043	Abnormal neural tube morphology	9401	RECQL4	OMIM:218600
HP:0410043	Abnormal neural tube morphology	5422	POLA1	OMIM:301030
HP:0410043	Abnormal neural tube morphology	2317	FLNB	OMIM:150250
HP:0410043	Abnormal neural tube morphology	8621	CDK13	OMIM:617360
HP:0410043	Abnormal neural tube morphology	860	RUNX2	ORPHA:1452
HP:0410043	Abnormal neural tube morphology	51729	WBP11	OMIM:619227
HP:0410043	Abnormal neural tube morphology	257	ALX3	OMIM:136760
HP:0410043	Abnormal neural tube morphology	257	ALX3	ORPHA:391474
HP:0410043	Abnormal neural tube morphology	8092	ALX1	ORPHA:306542
HP:0410043	Abnormal neural tube morphology	157570	ESCO2	OMIM:268300
HP:0410043	Abnormal neural tube morphology	5290	PIK3CA	OMIM:612918
HP:0410043	Abnormal neural tube morphology	4548	MTR	OMIM:601634
HP:0410043	Abnormal neural tube morphology	4552	MTRR	OMIM:601634
HP:0410043	Abnormal neural tube morphology	4524	MTHFR	OMIM:601634
HP:0410043	Abnormal neural tube morphology	4522	MTHFD1	OMIM:601634
HP:0410043	Abnormal neural tube morphology	3835	KIF22	OMIM:603546
HP:0410043	Abnormal neural tube morphology	6023	RMRP	ORPHA:175
HP:0410043	Abnormal neural tube morphology	23498	HAAO	OMIM:617660
HP:0410043	Abnormal neural tube morphology	9790	BMS1	ORPHA:1114
HP:0410043	Abnormal neural tube morphology	5339	PLEC	ORPHA:1114
HP:0410043	Abnormal neural tube morphology	10054	UBA2	ORPHA:1114
HP:0410043	Abnormal neural tube morphology	3691	ITGB4	ORPHA:1114
HP:0410043	Abnormal neural tube morphology	54567	DLL4	ORPHA:1114
HP:0410043	Abnormal neural tube morphology	6662	SOX9	OMIM:114290
HP:0410043	Abnormal neural tube morphology	388015	RTL1	ORPHA:96334
HP:0410043	Abnormal neural tube morphology	8788	DLK1	ORPHA:96334
HP:0410043	Abnormal neural tube morphology	55384	MEG3	ORPHA:96334
HP:0410043	Abnormal neural tube morphology	30813	VSX1	OMIM:614195
HP:0410043	Abnormal neural tube morphology	3190	HNRNPK	OMIM:616580
HP:0410043	Abnormal neural tube morphology	28514	DLL1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	28514	DLL1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	28514	DLL1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	28514	DLL1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	10735	STAG2	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	10735	STAG2	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	2253	FGF8	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	2253	FGF8	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	2253	FGF8	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	2253	FGF8	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	8243	SMC1A	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	6496	SIX3	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	6496	SIX3	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	6496	SIX3	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	6496	SIX3	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	7050	TGIF1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	7050	TGIF1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	7050	TGIF1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	7050	TGIF1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	4838	NODAL	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	4838	NODAL	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	4838	NODAL	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	4838	NODAL	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	6469	SHH	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	6469	SHH	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	6469	SHH	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	6469	SHH	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	7546	ZIC2	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	7546	ZIC2	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	7546	ZIC2	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	7546	ZIC2	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	6491	STIL	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	6491	STIL	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	6491	STIL	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	6491	STIL	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	2619	GAS1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	2619	GAS1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	2619	GAS1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	2619	GAS1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	84976	DISP1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	84976	DISP1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	84976	DISP1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	84976	DISP1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	2736	GLI2	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	2736	GLI2	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	2736	GLI2	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	2736	GLI2	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	8928	FOXH1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	8928	FOXH1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	8928	FOXH1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	8928	FOXH1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	5727	PTCH1	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	5727	PTCH1	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	5727	PTCH1	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	5727	PTCH1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	50937	CDON	ORPHA:220386
HP:0410043	Abnormal neural tube morphology	50937	CDON	ORPHA:93926
HP:0410043	Abnormal neural tube morphology	50937	CDON	ORPHA:93924
HP:0410043	Abnormal neural tube morphology	50937	CDON	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	23007	PLCH1	ORPHA:93925
HP:0410043	Abnormal neural tube morphology	999	CDH1	OMIM:119580
HP:0410043	Abnormal neural tube morphology	10329	RXYLT1	OMIM:615041
HP:0410043	Abnormal neural tube morphology	10195	ALG3	ORPHA:79321
HP:0410043	Abnormal neural tube morphology	26040	SETBP1	ORPHA:798
HP:0410049	Abnormal radial ray morphology	55159	RFWD3	OMIM:617784
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	26191	PTPN22	OMIM:222100
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	3710	ITPR3	OMIM:222100
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	3569	IL6	OMIM:222100
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	6927	HNF1A	OMIM:222100
HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine	3155	HMGCL	OMIM:246450
HP:0410054	Decreased circulating GABA concentration	4353	MPO	OMIM:104300
HP:0410054	Decreased circulating GABA concentration	4846	NOS3	OMIM:104300
HP:0410054	Decreased circulating GABA concentration	3077	HFE	OMIM:104300
HP:0410054	Decreased circulating GABA concentration	351	APP	OMIM:104300
HP:0410054	Decreased circulating GABA concentration	5328	PLAU	OMIM:104300
HP:0410055	Decreased level of erythritol in urine	22934	RPIA	OMIM:608611
HP:0410056	Decreased CSF erythritol concentration	22934	RPIA	OMIM:608611
HP:0410057	Increased level of D-threitol in plasma	22934	RPIA	OMIM:608611
HP:0410058	Increased level of D-threitol in CSF	22934	RPIA	OMIM:608611
HP:0410059	Increased level of D-threitol in urine	22934	RPIA	OMIM:608611
HP:0010800	Absent cupid's bow	51322	WAC	ORPHA:284169
HP:0010800	Absent cupid's bow	80232	WDR26	OMIM:617616
HP:0010800	Absent cupid's bow	80232	WDR26	ORPHA:513456
HP:0010800	Absent cupid's bow	83479	DDX59	ORPHA:2919
HP:0010801	Underdeveloped nasolabial fold	11253	MAN1B1	OMIM:614202
HP:0010801	Underdeveloped nasolabial fold	11253	MAN1B1	ORPHA:397941
HP:0010801	Underdeveloped nasolabial fold	283209	PGM2L1	OMIM:620191
HP:0010801	Underdeveloped nasolabial fold	6638	SNRPN	ORPHA:177907
HP:0010803	Everted upper lip vermilion	128178	EDARADD	OMIM:224900
HP:0010803	Everted upper lip vermilion	10913	EDAR	OMIM:224900
HP:0010803	Everted upper lip vermilion	129563	DIS3L2	OMIM:267000
HP:0010803	Everted upper lip vermilion	50801	KCNK4	OMIM:618381
HP:0010803	Everted upper lip vermilion	57724	EPG5	OMIM:242840
HP:0010803	Everted upper lip vermilion	10717	AP4B1	ORPHA:280763
HP:0010803	Everted upper lip vermilion	9179	AP4M1	ORPHA:280763
HP:0010803	Everted upper lip vermilion	11154	AP4S1	ORPHA:280763
HP:0010803	Everted upper lip vermilion	23431	AP4E1	ORPHA:280763
HP:0010803	Everted upper lip vermilion	1896	EDA	OMIM:305100
HP:0010803	Everted upper lip vermilion	1896	EDA	ORPHA:181
HP:0010803	Everted upper lip vermilion	80232	WDR26	ORPHA:513456
HP:0010803	Everted upper lip vermilion	60401	EDA2R	ORPHA:181
HP:0010803	Everted upper lip vermilion	1387	CREBBP	OMIM:618332
HP:0010803	Everted upper lip vermilion	374654	KIF7	OMIM:200990
HP:0010803	Everted upper lip vermilion	8294	H4C9	OMIM:619951
HP:0010803	Everted upper lip vermilion	10743	RAI1	OMIM:182290
HP:0010803	Everted upper lip vermilion	9739	SETD1A	OMIM:619056
HP:0010803	Everted upper lip vermilion	8260	NAA10	OMIM:300855
HP:0010803	Everted upper lip vermilion	8260	NAA10	ORPHA:276432
HP:0010803	Everted upper lip vermilion	1788	DNMT3A	OMIM:615879
HP:0010803	Everted upper lip vermilion	6929	TCF3	OMIM:619824
HP:0010803	Everted upper lip vermilion	2629	GBA1	OMIM:608013
HP:0010803	Everted upper lip vermilion	4131	MAP1B	OMIM:618918
HP:0010803	Everted upper lip vermilion	6597	SMARCA4	OMIM:614609
HP:0010803	Everted upper lip vermilion	3756	KCNH1	ORPHA:420561
HP:0410061	Increased level of galactitol in plasma	2592	GALT	OMIM:230400
HP:0410061	Increased level of galactitol in plasma	2584	GALK1	ORPHA:79237
HP:0410062	Increased level of galactitol in urine	2592	GALT	OMIM:230400
HP:0410062	Increased level of galactitol in urine	2584	GALK1	ORPHA:79237
HP:0410063	Increased level of galactonate in red blood cells	2592	GALT	OMIM:230400
HP:0410064	Increased level of galactitol in red blood cells	2592	GALT	OMIM:230400
HP:0410066	Increased level of hippuric acid in urine	5053	PAH	OMIM:261600
HP:0410066	Increased level of hippuric acid in urine	3155	HMGCL	OMIM:246450
HP:0410066	Increased level of hippuric acid in urine	1629	DBT	OMIM:248600
HP:0410066	Increased level of hippuric acid in urine	593	BCKDHA	OMIM:248600
HP:0410066	Increased level of hippuric acid in urine	594	BCKDHB	OMIM:248600
HP:0410066	Increased level of hippuric acid in urine	5095	PCCA	OMIM:606054
HP:0410066	Increased level of hippuric acid in urine	5096	PCCB	OMIM:606054
HP:0410067	Increased level of L-fucose in urine	3553	IL1B	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	4595	MUTYH	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	3557	IL1RN	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	3845	KRAS	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	3845	KRAS	OMIM:260350
HP:0410067	Increased level of L-fucose in urine	843	CASP10	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	3659	IRF1	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	2064	ERBB2	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	5290	PIK3CA	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	1316	KLF6	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	324	APC	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	2263	FGFR2	OMIM:613659
HP:0410067	Increased level of L-fucose in urine	3875	KRT18	OMIM:215600
HP:0410067	Increased level of L-fucose in urine	6794	STK11	OMIM:260350
HP:0410067	Increased level of L-fucose in urine	7157	TP53	OMIM:260350
HP:0410067	Increased level of L-fucose in urine	4089	SMAD4	OMIM:260350
HP:0410069	Increased level of propylene glycol in blood	3875	KRT18	OMIM:215600
HP:0010809	Broad uvula	7042	TGFB2	OMIM:614816
HP:0010809	Broad uvula	10526	IPO8	OMIM:619472
HP:0010808	Protruding tongue	1789	DNMT3B	OMIM:242860
HP:0010808	Protruding tongue	1789	DNMT3B	ORPHA:2268
HP:0010808	Protruding tongue	7337	UBE3A	ORPHA:98794
HP:0010808	Protruding tongue	7337	UBE3A	ORPHA:98795
HP:0010808	Protruding tongue	7337	UBE3A	OMIM:105830
HP:0010808	Protruding tongue	7337	UBE3A	ORPHA:411511
HP:0010808	Protruding tongue	4948	OCA2	ORPHA:98794
HP:0010808	Protruding tongue	9488	PIGB	OMIM:618580
HP:0010808	Protruding tongue	9321	TRIP11	OMIM:200600
HP:0010808	Protruding tongue	91949	COG7	OMIM:608779
HP:0010808	Protruding tongue	4001	LMNB1	OMIM:619179
HP:0010808	Protruding tongue	546	ATRX	OMIM:309580
HP:0010808	Protruding tongue	546	ATRX	OMIM:301040
HP:0010808	Protruding tongue	29957	SLC25A24	OMIM:612289
HP:0010808	Protruding tongue	23219	FBXO28	OMIM:619777
HP:0010808	Protruding tongue	6418	SET	OMIM:618106
HP:0010808	Protruding tongue	9378	NRXN1	OMIM:614325
HP:0010808	Protruding tongue	2720	GLB1	OMIM:230600
HP:0010808	Protruding tongue	56623	INPP5E	OMIM:213300
HP:0010808	Protruding tongue	79813	EHMT1	ORPHA:96147
HP:0010808	Protruding tongue	79813	EHMT1	OMIM:610253
HP:0010808	Protruding tongue	9289	ADGRG1	ORPHA:98889
HP:0010808	Protruding tongue	5297	PI4KA	ORPHA:98889
HP:0010808	Protruding tongue	27286	SRPX2	ORPHA:98889
HP:0010808	Protruding tongue	6638	SNRPN	OMIM:105830
HP:0010808	Protruding tongue	6872	TAF1	ORPHA:53351
HP:0010808	Protruding tongue	4758	NEU1	ORPHA:93399
HP:0010808	Protruding tongue	4758	NEU1	ORPHA:93400
HP:0010808	Protruding tongue	2898	GRIK2	OMIM:619580
HP:0010808	Protruding tongue	1457	CSNK2A1	OMIM:617062
HP:0010808	Protruding tongue	4784	NFIX	ORPHA:561
HP:0010808	Protruding tongue	374879	ZNF699	OMIM:619488
HP:0010808	Protruding tongue	1193	CLIC2	ORPHA:324410
HP:0010808	Protruding tongue	374654	KIF7	OMIM:200990
HP:0010808	Protruding tongue	5745	PTH1R	ORPHA:50945
HP:0010808	Protruding tongue	2623	GATA1	OMIM:190685
HP:0010808	Protruding tongue	253959	RALGAPA1	OMIM:618797
HP:0010808	Protruding tongue	28952	CCDC22	OMIM:300963
HP:0010808	Protruding tongue	3070	HELLS	ORPHA:2268
HP:0010808	Protruding tongue	83879	CDCA7	ORPHA:2268
HP:0010808	Protruding tongue	9841	ZBTB24	ORPHA:2268
HP:0010808	Protruding tongue	23230	VPS13A	ORPHA:2388
HP:0010808	Protruding tongue	22907	DHX30	OMIM:617804
HP:0010808	Protruding tongue	1460	CSNK2B	OMIM:618732
HP:0010808	Protruding tongue	4247	MGAT2	OMIM:212066
HP:0010808	Protruding tongue	3908	LAMA2	ORPHA:258
HP:0010808	Protruding tongue	5189	PEX1	OMIM:214100
HP:0010808	Protruding tongue	1759	DNM1	OMIM:620352
HP:0010808	Protruding tongue	55343	SLC35C1	ORPHA:99843
HP:0010808	Protruding tongue	79068	FTO	OMIM:612938
HP:0010808	Protruding tongue	56975	FAM20C	OMIM:259775
HP:0010807	Open bite	265	AMELX	OMIM:301200
HP:0010807	Open bite	3694	ITGB6	OMIM:616221
HP:0010807	Open bite	84957	RELT	OMIM:618386
HP:0010807	Open bite	650	BMP2	OMIM:617877
HP:0010807	Open bite	1834	DSPP	OMIM:125500
HP:0010807	Open bite	8111	GPR68	OMIM:617217
HP:0010807	Open bite	10117	ENAM	OMIM:204650
HP:0010807	Open bite	286077	FAM83H	OMIM:130900
HP:0010807	Open bite	9622	KLK4	OMIM:204700
HP:0010807	Open bite	526	ATP6V1B2	ORPHA:3473
HP:0010807	Open bite	3756	KCNH1	ORPHA:3473
HP:0010807	Open bite	3782	KCNN3	ORPHA:3473
HP:0010807	Open bite	2773	GNAI3	OMIM:602483
HP:0010807	Open bite	9313	MMP20	OMIM:612529
HP:0010807	Open bite	7291	TWIST1	ORPHA:794
HP:0010807	Open bite	2263	FGFR2	ORPHA:794
HP:0010807	Open bite	2263	FGFR2	ORPHA:168624
HP:0010807	Open bite	2261	FGFR3	ORPHA:794
HP:0010807	Open bite	3187	HNRNPH1	OMIM:620083
HP:0010807	Open bite	5573	PRKAR1A	ORPHA:950
HP:0010807	Open bite	5144	PDE4D	ORPHA:950
HP:0010807	Open bite	153642	ARSK	OMIM:619698
HP:0010807	Open bite	64840	PORCN	ORPHA:2092
HP:0010807	Open bite	55084	SOBP	OMIM:613671
HP:0010807	Open bite	1857	DVL3	ORPHA:3107
HP:0010807	Open bite	7474	WNT5A	ORPHA:3107
HP:0010807	Open bite	1855	DVL1	ORPHA:3107
HP:0010807	Open bite	2535	FZD2	ORPHA:3107
HP:0010807	Open bite	673	BRAF	OMIM:115150
HP:0010807	Open bite	6804	STX1A	ORPHA:904
HP:0010807	Open bite	7461	CLIP2	ORPHA:904
HP:0010807	Open bite	84277	DNAJC30	ORPHA:904
HP:0010807	Open bite	8468	FKBP6	ORPHA:904
HP:0010807	Open bite	5982	RFC2	ORPHA:904
HP:0010807	Open bite	2969	GTF2I	ORPHA:904
HP:0010807	Open bite	3984	LIMK1	ORPHA:904
HP:0010807	Open bite	9569	GTF2IRD1	ORPHA:904
HP:0010807	Open bite	155382	VPS37D	ORPHA:904
HP:0010807	Open bite	155368	METTL27	ORPHA:904
HP:0010807	Open bite	114049	BUD23	ORPHA:904
HP:0010807	Open bite	7458	EIF4H	ORPHA:904
HP:0010807	Open bite	84163	GTF2IRD2	ORPHA:904
HP:0010807	Open bite	9275	BCL7B	ORPHA:904
HP:0010807	Open bite	26608	TBL2	ORPHA:904
HP:0010807	Open bite	653361	NCF1	ORPHA:904
HP:0010807	Open bite	135886	TMEM270	ORPHA:904
HP:0010807	Open bite	51085	MLXIPL	ORPHA:904
HP:0010807	Open bite	9031	BAZ1B	ORPHA:904
HP:0010807	Open bite	2006	ELN	ORPHA:904
HP:0010807	Open bite	64359	NXN	ORPHA:1507
HP:0010807	Open bite	4920	ROR2	ORPHA:1507
HP:0010807	Open bite	8481	OFD1	ORPHA:2750
HP:0010807	Open bite	3190	HNRNPK	ORPHA:352665
HP:0010807	Open bite	3190	HNRNPK	ORPHA:453504
HP:0010807	Open bite	84172	POLR1B	ORPHA:861
HP:0010807	Open bite	9533	POLR1C	ORPHA:861
HP:0010807	Open bite	51082	POLR1D	ORPHA:861
HP:0010807	Open bite	6949	TCOF1	ORPHA:861
HP:0010807	Open bite	860	RUNX2	ORPHA:1452
HP:0010807	Open bite	5728	PTEN	ORPHA:2969
HP:0010807	Open bite	8450	CUL4B	ORPHA:85293
HP:0010807	Open bite	4853	NOTCH2	ORPHA:955
HP:0010807	Open bite	4952	OCRL	ORPHA:534
HP:0010807	Open bite	10743	RAI1	ORPHA:1713
HP:0010807	Open bite	9509	ADAMTS2	OMIM:225410
HP:0010810	Long uvula	165	AEBP1	ORPHA:536532
HP:0010812	Short uvula	57479	PRR12	OMIM:619539
HP:0010812	Short uvula	57539	WDR35	OMIM:614091
HP:0010812	Short uvula	6711	SPTBN1	OMIM:619475
HP:0010813	Abnormal number of hair whorls	84231	TRAF7	OMIM:618164
HP:0010813	Abnormal number of hair whorls	10265	IRX5	OMIM:611174
HP:0010814	Abnormal position of hair whorl	11253	MAN1B1	ORPHA:397941
HP:0010815	Nevus sebaceous	673	BRAF	ORPHA:840
HP:0010815	Nevus sebaceous	3845	KRAS	OMIM:163200
HP:0010815	Nevus sebaceous	4893	NRAS	OMIM:163200
HP:0010815	Nevus sebaceous	3265	HRAS	OMIM:163200
HP:0010815	Nevus sebaceous	6608	SMO	OMIM:601707
HP:0410070	Increased level of ribitol in urine	22934	RPIA	OMIM:608611
HP:0410071	Increased level of ribitol in CSF	22934	RPIA	OMIM:608611
HP:0410072	Increased level of ribose in urine	22934	RPIA	OMIM:608611
HP:0410072	Increased level of ribose in urine	7086	TKT	ORPHA:488618
HP:0410073	Increased level of ribose in CSF	22934	RPIA	OMIM:608611
HP:0410074	Increased level of xylitol in urine	22934	RPIA	OMIM:608611
HP:0410075	Increased level of xylitol in CSF	22934	RPIA	OMIM:608611
HP:0010816	Epidermal nevus	673	BRAF	ORPHA:840
HP:0010816	Epidermal nevus	4893	NRAS	OMIM:163200
HP:0010816	Epidermal nevus	3265	HRAS	OMIM:163200
HP:0010816	Epidermal nevus	6608	SMO	OMIM:601707
HP:0010816	Epidermal nevus	50814	NSDHL	OMIM:308050
HP:0010816	Epidermal nevus	207	AKT1	OMIM:176920
HP:0010816	Epidermal nevus	207	AKT1	ORPHA:744
HP:0010816	Epidermal nevus	5728	PTEN	ORPHA:2969
HP:0010816	Epidermal nevus	5728	PTEN	ORPHA:744
HP:0010816	Epidermal nevus	5290	PIK3CA	OMIM:182000
HP:0010816	Epidermal nevus	3845	KRAS	OMIM:600268
HP:0010816	Epidermal nevus	23592	LEMD3	OMIM:166700
HP:0010816	Epidermal nevus	91754	NEK9	OMIM:617025
HP:0010816	Epidermal nevus	7507	XPA	OMIM:278700
HP:0010817	Linear nevus sebaceous	3845	KRAS	OMIM:163200
HP:0010817	Linear nevus sebaceous	4893	NRAS	OMIM:163200
HP:0010817	Linear nevus sebaceous	3265	HRAS	OMIM:163200
HP:0010817	Linear nevus sebaceous	3265	HRAS	ORPHA:2874
HP:0000600	Abnormality of the pharynx	8106	PABPN1	ORPHA:270
HP:0000600	Abnormality of the pharynx	80169	CTC1	ORPHA:1775
HP:0000600	Abnormality of the pharynx	26277	TINF2	ORPHA:1775
HP:0000600	Abnormality of the pharynx	55651	NHP2	ORPHA:1775
HP:0000600	Abnormality of the pharynx	55135	WRAP53	ORPHA:1775
HP:0000600	Abnormality of the pharynx	51750	RTEL1	ORPHA:1775
HP:0000600	Abnormality of the pharynx	4869	NPM1	ORPHA:1775
HP:0000600	Abnormality of the pharynx	7012	TERC	ORPHA:1775
HP:0000600	Abnormality of the pharynx	55505	NOP10	ORPHA:1775
HP:0000600	Abnormality of the pharynx	5073	PARN	ORPHA:1775
HP:0000600	Abnormality of the pharynx	7015	TERT	ORPHA:1775
HP:0000600	Abnormality of the pharynx	1736	DKC1	ORPHA:1775
HP:0000600	Abnormality of the pharynx	7298	TYMS	ORPHA:1775
HP:0000600	Abnormality of the pharynx	1312	COMT	ORPHA:567
HP:0000600	Abnormality of the pharynx	221037	JMJD1C	ORPHA:567
HP:0000600	Abnormality of the pharynx	2812	GP1BB	ORPHA:567
HP:0000600	Abnormality of the pharynx	6239	RREB1	ORPHA:567
HP:0000600	Abnormality of the pharynx	7290	HIRA	ORPHA:567
HP:0000600	Abnormality of the pharynx	9632	SEC24C	ORPHA:567
HP:0000600	Abnormality of the pharynx	7353	UFD1	ORPHA:567
HP:0000600	Abnormality of the pharynx	421	ARVCF	ORPHA:567
HP:0000600	Abnormality of the pharynx	10743	RAI1	ORPHA:1713
HP:0000600	Abnormality of the pharynx	3339	HSPG2	ORPHA:800
HP:0000600	Abnormality of the pharynx	2697	GJA1	OMIM:218400
HP:0000600	Abnormality of the pharynx	6469	SHH	OMIM:147250
HP:0000600	Abnormality of the pharynx	4281	MID1	OMIM:300000
HP:0000600	Abnormality of the pharynx	26040	SETBP1	OMIM:269150
HP:0000600	Abnormality of the pharynx	57167	SALL4	OMIM:607323
HP:0000600	Abnormality of the pharynx	8626	TP63	OMIM:604292
HP:0000600	Abnormality of the pharynx	100	ADA	ORPHA:277
HP:0000600	Abnormality of the pharynx	83483	PLVAP	OMIM:618183
HP:0000600	Abnormality of the pharynx	6448	SGSH	OMIM:252900
HP:0000600	Abnormality of the pharynx	23394	ADNP	ORPHA:404448
HP:0000600	Abnormality of the pharynx	4860	PNP	OMIM:613179
HP:0000600	Abnormality of the pharynx	3932	LCK	OMIM:615758
HP:0000600	Abnormality of the pharynx	411	ARSB	OMIM:253200
HP:0000600	Abnormality of the pharynx	114803	MYSM1	ORPHA:508542
HP:0000600	Abnormality of the pharynx	3718	JAK3	OMIM:600802
HP:0000600	Abnormality of the pharynx	6809	STX3	OMIM:619446
HP:0000600	Abnormality of the pharynx	11151	CORO1A	OMIM:615401
HP:0000600	Abnormality of the pharynx	57465	TBC1D24	ORPHA:352596
HP:0000600	Abnormality of the pharynx	10525	HYOU1	OMIM:233600
HP:0000600	Abnormality of the pharynx	3952	LEP	ORPHA:66628
HP:0000600	Abnormality of the pharynx	3952	LEP	OMIM:614962
HP:0000600	Abnormality of the pharynx	6662	SOX9	OMIM:114290
HP:0000600	Abnormality of the pharynx	427	ASAH1	ORPHA:333
HP:0000600	Abnormality of the pharynx	25839	COG4	ORPHA:263501
HP:0000600	Abnormality of the pharynx	4784	NFIX	OMIM:602535
HP:0000600	Abnormality of the pharynx	1493	CTLA4	OMIM:616100
HP:0000600	Abnormality of the pharynx	6597	SMARCA4	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6598	SMARCB1	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6659	SOX4	ORPHA:1465
HP:0000600	Abnormality of the pharynx	8289	ARID1A	ORPHA:1465
HP:0000600	Abnormality of the pharynx	5977	DPF2	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6601	SMARCC2	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6602	SMARCD1	ORPHA:1465
HP:0000600	Abnormality of the pharynx	57492	ARID1B	ORPHA:1465
HP:0000600	Abnormality of the pharynx	196528	ARID2	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6605	SMARCE1	ORPHA:1465
HP:0000600	Abnormality of the pharynx	6664	SOX11	ORPHA:1465
HP:0000600	Abnormality of the pharynx	92579	G6PC3	OMIM:612541
HP:0000600	Abnormality of the pharynx	5631	PRPS1	ORPHA:1187
HP:0000600	Abnormality of the pharynx	5631	PRPS1	OMIM:301835
HP:0000600	Abnormality of the pharynx	5426	POLE	OMIM:615139
HP:0000600	Abnormality of the pharynx	3953	LEPR	OMIM:614963
HP:0000600	Abnormality of the pharynx	3953	LEPR	ORPHA:179494
HP:0000600	Abnormality of the pharynx	8456	FOXN1	OMIM:618806
HP:0000600	Abnormality of the pharynx	146206	CARMIL2	OMIM:618131
HP:0000600	Abnormality of the pharynx	2720	GLB1	OMIM:253010
HP:0000600	Abnormality of the pharynx	6772	STAT1	ORPHA:391487
HP:0000600	Abnormality of the pharynx	10043	TOM1	ORPHA:391487
HP:0000600	Abnormality of the pharynx	3572	IL6ST	OMIM:619752
HP:0000600	Abnormality of the pharynx	3852	KRT5	OMIM:619599
HP:0000600	Abnormality of the pharynx	1387	CREBBP	OMIM:180849
HP:0000600	Abnormality of the pharynx	1387	CREBBP	OMIM:618332
HP:0000600	Abnormality of the pharynx	2033	EP300	OMIM:180849
HP:0000600	Abnormality of the pharynx	2033	EP300	OMIM:618333
HP:0000600	Abnormality of the pharynx	4261	CIITA	OMIM:209920
HP:0000600	Abnormality of the pharynx	5994	RFXAP	OMIM:209920
HP:0000600	Abnormality of the pharynx	5993	RFX5	OMIM:209920
HP:0000600	Abnormality of the pharynx	8625	RFXANK	OMIM:209920
HP:0000600	Abnormality of the pharynx	2588	GALNS	OMIM:253000
HP:0000600	Abnormality of the pharynx	6774	STAT3	OMIM:615952
HP:0000600	Abnormality of the pharynx	5295	PIK3R1	OMIM:616005
HP:0000600	Abnormality of the pharynx	9841	ZBTB24	OMIM:614069
HP:0000600	Abnormality of the pharynx	920	CD4	OMIM:619238
HP:0000600	Abnormality of the pharynx	3570	IL6R	OMIM:618944
HP:0000600	Abnormality of the pharynx	3575	IL7R	ORPHA:169154
HP:0000600	Abnormality of the pharynx	51360	MBTPS2	OMIM:308205
HP:0000600	Abnormality of the pharynx	27086	FOXP1	ORPHA:391372
HP:0000600	Abnormality of the pharynx	8481	OFD1	OMIM:300209
HP:0000600	Abnormality of the pharynx	5971	RELB	OMIM:617585
HP:0000600	Abnormality of the pharynx	79803	HPS6	OMIM:614075
HP:0000600	Abnormality of the pharynx	641	BLM	OMIM:210900
HP:0000600	Abnormality of the pharynx	5340	PLG	OMIM:217090
HP:0000600	Abnormality of the pharynx	2799	GNS	OMIM:252940
HP:0000600	Abnormality of the pharynx	8242	KDM5C	OMIM:300534
HP:0000600	Abnormality of the pharynx	23247	KATNIP	OMIM:616784
HP:0000600	Abnormality of the pharynx	2990	GUSB	OMIM:253220
HP:0000600	Abnormality of the pharynx	138050	HGSNAT	OMIM:252930
HP:0000600	Abnormality of the pharynx	3514	IGKC	ORPHA:183675
HP:0000600	Abnormality of the pharynx	3501	IGHG2	ORPHA:183675
HP:0000600	Abnormality of the pharynx	2542	SLC37A4	OMIM:232240
HP:0000600	Abnormality of the pharynx	55023	PHIP	ORPHA:589905
HP:0000600	Abnormality of the pharynx	2302	FOXJ1	OMIM:618699
HP:0000600	Abnormality of the pharynx	7388	UQCRH	OMIM:620137
HP:0000600	Abnormality of the pharynx	9138	ARHGEF1	OMIM:618459
HP:0000600	Abnormality of the pharynx	4669	NAGLU	OMIM:252920
HP:0000600	Abnormality of the pharynx	54808	DYM	ORPHA:239
HP:0000600	Abnormality of the pharynx	27019	DNAI1	OMIM:244400
HP:0000600	Abnormality of the pharynx	374407	DNAJB13	OMIM:617091
HP:0000600	Abnormality of the pharynx	6595	SMARCA2	OMIM:619293
HP:0000600	Abnormality of the pharynx	4791	NFKB2	ORPHA:293978
HP:0000600	Abnormality of the pharynx	4791	NFKB2	ORPHA:1572
HP:0000600	Abnormality of the pharynx	23495	TNFRSF13B	OMIM:240500
HP:0000600	Abnormality of the pharynx	23495	TNFRSF13B	ORPHA:1572
HP:0000600	Abnormality of the pharynx	115650	TNFRSF13C	OMIM:240500
HP:0000600	Abnormality of the pharynx	115650	TNFRSF13C	ORPHA:1572
HP:0000600	Abnormality of the pharynx	29851	ICOS	OMIM:240500
HP:0000600	Abnormality of the pharynx	29851	ICOS	ORPHA:1572
HP:0000600	Abnormality of the pharynx	29851	ICOS	OMIM:607594
HP:0000600	Abnormality of the pharynx	930	CD19	OMIM:240500
HP:0000600	Abnormality of the pharynx	930	CD19	ORPHA:1572
HP:0000600	Abnormality of the pharynx	84061	MAGT1	OMIM:300853
HP:0000600	Abnormality of the pharynx	4256	MGP	OMIM:245150
HP:0000600	Abnormality of the pharynx	6103	RPGR	OMIM:300455
HP:0000600	Abnormality of the pharynx	123872	DNAAF1	OMIM:613193
HP:0000600	Abnormality of the pharynx	4683	NBN	OMIM:251260
HP:0000600	Abnormality of the pharynx	2622	GAS8	OMIM:616726
HP:0000600	Abnormality of the pharynx	23765	IL17RA	OMIM:613953
HP:0000600	Abnormality of the pharynx	3588	IL10RB	OMIM:612567
HP:0000600	Abnormality of the pharynx	6890	TAP1	OMIM:604571
HP:0000600	Abnormality of the pharynx	6891	TAP2	OMIM:604571
HP:0000600	Abnormality of the pharynx	6892	TAPBP	OMIM:604571
HP:0000600	Abnormality of the pharynx	3561	IL2RG	OMIM:312863
HP:0000600	Abnormality of the pharynx	974	CD79B	OMIM:612692
HP:0000600	Abnormality of the pharynx	472	ATM	OMIM:208900
HP:0000600	Abnormality of the pharynx	973	CD79A	OMIM:613501
HP:0000600	Abnormality of the pharynx	4790	NFKB1	ORPHA:1572
HP:0000600	Abnormality of the pharynx	8742	TNFSF12	ORPHA:1572
HP:0000600	Abnormality of the pharynx	5580	PRKCD	ORPHA:1572
HP:0000600	Abnormality of the pharynx	931	MS4A1	ORPHA:1572
HP:0000600	Abnormality of the pharynx	975	CD81	ORPHA:1572
HP:0000600	Abnormality of the pharynx	359948	IRF2BP2	ORPHA:1572
HP:0000600	Abnormality of the pharynx	6901	TAFAZZIN	OMIM:302060
HP:0000600	Abnormality of the pharynx	79158	GNPTAB	OMIM:252500
HP:0000600	Abnormality of the pharynx	6949	TCOF1	OMIM:154500
HP:0000600	Abnormality of the pharynx	139212	DNAAF6	OMIM:300991
HP:0000600	Abnormality of the pharynx	7840	ALMS1	ORPHA:64
HP:0000600	Abnormality of the pharynx	30011	SH3KBP1	OMIM:300310
HP:0000600	Abnormality of the pharynx	7454	WAS	OMIM:301000
HP:0000600	Abnormality of the pharynx	695	BTK	OMIM:300755
HP:0000600	Abnormality of the pharynx	152110	NEK10	OMIM:618781
HP:0000600	Abnormality of the pharynx	27148	STK36	OMIM:619436
HP:0000600	Abnormality of the pharynx	5880	RAC2	OMIM:618986
HP:0000600	Abnormality of the pharynx	64446	DNAI2	OMIM:612444
HP:0000600	Abnormality of the pharynx	987	LRBA	OMIM:614700
HP:0000600	Abnormality of the pharynx	3426	CFI	OMIM:610984
HP:0000600	Abnormality of the pharynx	54440	SASH3	OMIM:301082
HP:0000600	Abnormality of the pharynx	345895	RSPH4A	OMIM:612649
HP:0000600	Abnormality of the pharynx	54499	TMCO1	OMIM:213980
HP:0000600	Abnormality of the pharynx	9094	UNC119	OMIM:615518
HP:0000600	Abnormality of the pharynx	79650	USB1	OMIM:604173
HP:0000600	Abnormality of the pharynx	5293	PIK3CD	OMIM:619281
HP:0000600	Abnormality of the pharynx	3507	IGHM	OMIM:601495
HP:0000600	Abnormality of the pharynx	54768	HYDIN	OMIM:608647
HP:0000600	Abnormality of the pharynx	89765	RSPH1	OMIM:615481
HP:0000600	Abnormality of the pharynx	161582	DNAAF4	OMIM:615482
HP:0000600	Abnormality of the pharynx	1289	COL5A1	OMIM:130000
HP:0000600	Abnormality of the pharynx	6813	STXBP2	OMIM:613101
HP:0000600	Abnormality of the pharynx	51816	ADA2	OMIM:615688
HP:0000600	Abnormality of the pharynx	54919	DNAAF5	OMIM:614874
HP:0000600	Abnormality of the pharynx	51364	ZMYND10	OMIM:615444
HP:0000600	Abnormality of the pharynx	50615	IL21R	OMIM:615207
HP:0000600	Abnormality of the pharynx	1767	DNAH5	OMIM:608644
HP:0000600	Abnormality of the pharynx	85452	CFAP74	OMIM:620197
HP:0000600	Abnormality of the pharynx	8382	NME5	OMIM:620032
HP:0000600	Abnormality of the pharynx	84905	ZNF341	OMIM:618282
HP:0000600	Abnormality of the pharynx	54	ACP5	OMIM:607944
HP:0000600	Abnormality of the pharynx	1290	COL5A2	OMIM:130010
HP:0000600	Abnormality of the pharynx	55130	ODAD2	OMIM:615451
HP:0000600	Abnormality of the pharynx	10625	IVNS1ABP	OMIM:618969
HP:0000600	Abnormality of the pharynx	4194	MDM4	OMIM:618849
HP:0000600	Abnormality of the pharynx	3551	IKBKB	OMIM:618204
HP:0000600	Abnormality of the pharynx	246176	GAS2L2	OMIM:618449
HP:0000600	Abnormality of the pharynx	6899	TBX1	OMIM:188400
HP:0000600	Abnormality of the pharynx	81704	DOCK8	OMIM:243700
HP:0000600	Abnormality of the pharynx	81704	DOCK8	ORPHA:217390
HP:0000600	Abnormality of the pharynx	345643	MCIDAS	OMIM:618695
HP:0000600	Abnormality of the pharynx	93233	ODAD1	OMIM:615067
HP:0000600	Abnormality of the pharynx	56683	CFAP298	OMIM:615500
HP:0000600	Abnormality of the pharynx	721	C4B	OMIM:614379
HP:0000600	Abnormality of the pharynx	4689	NCF4	OMIM:613960
HP:0000600	Abnormality of the pharynx	6688	SPI1	OMIM:619707
HP:0000600	Abnormality of the pharynx	85478	CCDC65	OMIM:615504
HP:0000600	Abnormality of the pharynx	6674	SPAG1	OMIM:615505
HP:0000600	Abnormality of the pharynx	51314	NME8	OMIM:610852
HP:0000600	Abnormality of the pharynx	5696	PSMB8	OMIM:256040
HP:0000600	Abnormality of the pharynx	2214	FCGR3A	OMIM:615707
HP:0000600	Abnormality of the pharynx	165918	RNF168	ORPHA:420741
HP:0000600	Abnormality of the pharynx	23639	DNAAF11	OMIM:614935
HP:0000600	Abnormality of the pharynx	55172	DNAAF2	OMIM:612518
HP:0000600	Abnormality of the pharynx	7512	XPNPEP2	ORPHA:100057
HP:0000600	Abnormality of the pharynx	710	SERPING1	ORPHA:100050
HP:0000600	Abnormality of the pharynx	710	SERPING1	OMIM:106100
HP:0000600	Abnormality of the pharynx	2161	F12	OMIM:610618
HP:0000600	Abnormality of the pharynx	6794	STK11	ORPHA:2869
HP:0000600	Abnormality of the pharynx	10312	TCIRG1	ORPHA:486
HP:0000600	Abnormality of the pharynx	1991	ELANE	ORPHA:486
HP:0000600	Abnormality of the pharynx	1991	ELANE	ORPHA:2686
HP:0000600	Abnormality of the pharynx	2672	GFI1	ORPHA:486
HP:0000600	Abnormality of the pharynx	6729	SRP54	ORPHA:486
HP:0000600	Abnormality of the pharynx	81570	CLPB	ORPHA:486
HP:0000600	Abnormality of the pharynx	3115	HLA-DPB1	ORPHA:133
HP:0000600	Abnormality of the pharynx	7852	CXCR4	ORPHA:51636
HP:0000600	Abnormality of the pharynx	91662	NLRP12	OMIM:611762
HP:0000600	Abnormality of the pharynx	1380	CR2	OMIM:614699
HP:0000600	Abnormality of the pharynx	64135	IFIH1	OMIM:619773
HP:0000600	Abnormality of the pharynx	89970	RSPRY1	ORPHA:457395
HP:0000600	Abnormality of the pharynx	3423	IDS	ORPHA:217085
HP:0000600	Abnormality of the pharynx	3423	IDS	ORPHA:217093
HP:0000600	Abnormality of the pharynx	51341	ZBTB7A	OMIM:619769
HP:0000600	Abnormality of the pharynx	23149	FCHO1	OMIM:619164
HP:0000600	Abnormality of the pharynx	1956	EGFR	OMIM:616069
HP:0000600	Abnormality of the pharynx	7157	TP53	OMIM:607107
HP:0000600	Abnormality of the pharynx	4486	MST1R	OMIM:617075
HP:0000600	Abnormality of the pharynx	5573	PRKAR1A	ORPHA:1359
HP:0000600	Abnormality of the pharynx	50940	PDE11A	ORPHA:1359
HP:0000600	Abnormality of the pharynx	26191	PTPN22	ORPHA:397
HP:0000600	Abnormality of the pharynx	3106	HLA-B	ORPHA:397
HP:0000600	Abnormality of the pharynx	3123	HLA-DRB1	ORPHA:397
HP:0000600	Abnormality of the pharynx	8974	P4HA2	ORPHA:397
HP:0000600	Abnormality of the pharynx	55315	SLC29A3	ORPHA:168569
HP:0000600	Abnormality of the pharynx	7132	TNFRSF1A	ORPHA:32960
HP:0000600	Abnormality of the pharynx	331	XIAP	OMIM:308240
HP:0000600	Abnormality of the pharynx	4068	SH2D1A	OMIM:308240
HP:0000600	Abnormality of the pharynx	79087	ALG12	ORPHA:79324
HP:0000600	Abnormality of the pharynx	2737	GLI3	ORPHA:672
HP:0000600	Abnormality of the pharynx	5896	RAG1	ORPHA:331206
HP:0000600	Abnormality of the pharynx	5897	RAG2	ORPHA:331206
HP:0000600	Abnormality of the pharynx	4247	MGAT2	ORPHA:79329
HP:0000600	Abnormality of the pharynx	8239	USP9X	ORPHA:480880
HP:0000600	Abnormality of the pharynx	57379	AICDA	OMIM:605258
HP:0000600	Abnormality of the pharynx	64421	DCLRE1C	ORPHA:275
HP:0000600	Abnormality of the pharynx	7374	UNG	OMIM:608106
HP:0000600	Abnormality of the pharynx	6340	SCNN1G	ORPHA:171876
HP:0000600	Abnormality of the pharynx	6337	SCNN1A	ORPHA:171876
HP:0000600	Abnormality of the pharynx	6338	SCNN1B	ORPHA:171876
HP:0000600	Abnormality of the pharynx	29969	MDFIC	OMIM:620014
HP:0000600	Abnormality of the pharynx	7535	ZAP70	ORPHA:911
HP:0000600	Abnormality of the pharynx	5354	PLP1	ORPHA:280210
HP:0000600	Abnormality of the pharynx	9782	MATR3	ORPHA:600
HP:0000600	Abnormality of the pharynx	10755	GIPC1	ORPHA:98897
HP:0000600	Abnormality of the pharynx	100996717	NOTCH2NLC	ORPHA:98897
HP:0000601	Hypotelorism	7291	TWIST1	ORPHA:794
HP:0000601	Hypotelorism	2263	FGFR2	ORPHA:794
HP:0000601	Hypotelorism	2261	FGFR3	ORPHA:794
HP:0000601	Hypotelorism	84706	GPT2	OMIM:616281
HP:0000601	Hypotelorism	84706	GPT2	ORPHA:477673
HP:0000601	Hypotelorism	8243	SMC1A	OMIM:301044
HP:0000601	Hypotelorism	8243	SMC1A	ORPHA:220386
HP:0000601	Hypotelorism	91452	ACBD5	OMIM:618863
HP:0000601	Hypotelorism	56896	DPYSL5	OMIM:619435
HP:0000601	Hypotelorism	23019	CNOT1	OMIM:618500
HP:0000601	Hypotelorism	23019	CNOT1	ORPHA:556955
HP:0000601	Hypotelorism	128674	PROKR2	OMIM:244200
HP:0000601	Hypotelorism	5885	RAD21	OMIM:614701
HP:0000601	Hypotelorism	55627	SMPD4	OMIM:618622
HP:0000601	Hypotelorism	8818	DPM2	ORPHA:329178
HP:0000601	Hypotelorism	8818	DPM2	OMIM:615042
HP:0000601	Hypotelorism	54820	NDE1	ORPHA:2177
HP:0000601	Hypotelorism	10060	ABCC9	OMIM:619719
HP:0000601	Hypotelorism	3981	LIG4	OMIM:606593
HP:0000601	Hypotelorism	5575	PRKAR1B	OMIM:619680
HP:0000601	Hypotelorism	4983	OPHN1	OMIM:300486
HP:0000601	Hypotelorism	29998	BICRA	OMIM:619325
HP:0000601	Hypotelorism	5859	QARS1	OMIM:615760
HP:0000601	Hypotelorism	84162	BLTP1	OMIM:617822
HP:0000601	Hypotelorism	473	RERE	OMIM:616975
HP:0000601	Hypotelorism	2624	GATA2	OMIM:614038
HP:0000601	Hypotelorism	10157	AASS	ORPHA:2203
HP:0000601	Hypotelorism	22858	CILK1	OMIM:612651
HP:0000601	Hypotelorism	84520	GON7	OMIM:619603
HP:0000601	Hypotelorism	55033	FKBP14	OMIM:614557
HP:0000601	Hypotelorism	23729	SHPK	ORPHA:440713
HP:0000601	Hypotelorism	26153	KIF26A	OMIM:620156
HP:0000601	Hypotelorism	5053	PAH	ORPHA:2209
HP:0000601	Hypotelorism	23097	CDK19	OMIM:618916
HP:0000601	Hypotelorism	57539	WDR35	ORPHA:1515
HP:0000601	Hypotelorism	112752	IFT43	ORPHA:1515
HP:0000601	Hypotelorism	51098	IFT52	ORPHA:1515
HP:0000601	Hypotelorism	55764	IFT122	ORPHA:1515
HP:0000601	Hypotelorism	55764	IFT122	OMIM:218330
HP:0000601	Hypotelorism	57728	WDR19	ORPHA:1515
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:280200
HP:0000601	Hypotelorism	2260	FGFR1	OMIM:190440
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:3366
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:93924
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:220386
HP:0000601	Hypotelorism	2260	FGFR1	OMIM:615465
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:280200
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93926
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93924
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93925
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:220386
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:280200
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93926
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93924
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93925
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:220386
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:280200
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93926
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93924
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93925
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:220386
HP:0000601	Hypotelorism	6496	SIX3	OMIM:157170
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:280200
HP:0000601	Hypotelorism	7050	TGIF1	OMIM:142946
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93926
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93924
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93925
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:220386
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:280200
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93926
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93924
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93925
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:220386
HP:0000601	Hypotelorism	6469	SHH	ORPHA:280200
HP:0000601	Hypotelorism	6469	SHH	OMIM:142945
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93926
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93924
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93925
HP:0000601	Hypotelorism	6469	SHH	ORPHA:220386
HP:0000601	Hypotelorism	6469	SHH	OMIM:147250
HP:0000601	Hypotelorism	51684	SUFU	ORPHA:280200
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:280200
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93926
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93924
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93925
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:220386
HP:0000601	Hypotelorism	7546	ZIC2	OMIM:609637
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:280200
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93926
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93924
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93925
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:220386
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:280200
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93926
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93924
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93925
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:220386
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:280200
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93926
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93924
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93925
HP:0000601	Hypotelorism	2736	GLI2	OMIM:610829
HP:0000601	Hypotelorism	2736	GLI2	OMIM:615849
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:220386
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:280200
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93926
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93924
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93925
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:220386
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:280200
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93926
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93924
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93925
HP:0000601	Hypotelorism	5727	PTCH1	OMIM:610828
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:220386
HP:0000601	Hypotelorism	50937	CDON	ORPHA:280200
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93926
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93924
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93925
HP:0000601	Hypotelorism	50937	CDON	OMIM:614226
HP:0000601	Hypotelorism	50937	CDON	ORPHA:220386
HP:0000601	Hypotelorism	10559	SLC35A1	OMIM:603585
HP:0000601	Hypotelorism	84987	COX14	OMIM:619053
HP:0000601	Hypotelorism	16	AARS1	OMIM:619691
HP:0000601	Hypotelorism	83696	TRAPPC9	OMIM:613192
HP:0000601	Hypotelorism	51132	RLIM	OMIM:300978
HP:0000601	Hypotelorism	57492	ARID1B	OMIM:135900
HP:0000601	Hypotelorism	537	ATP6AP1	OMIM:300972
HP:0000601	Hypotelorism	9401	RECQL4	ORPHA:1225
HP:0000601	Hypotelorism	815	CAMK2A	OMIM:617798
HP:0000601	Hypotelorism	5831	PYCR1	OMIM:612940
HP:0000601	Hypotelorism	158326	FREM1	ORPHA:3366
HP:0000601	Hypotelorism	2697	GJA1	ORPHA:2710
HP:0000601	Hypotelorism	4763	NF1	ORPHA:363700
HP:0000601	Hypotelorism	372	ARCN1	OMIM:617164
HP:0000601	Hypotelorism	5442	POLRMT	OMIM:619743
HP:0000601	Hypotelorism	3188	HNRNPH2	OMIM:300986
HP:0000601	Hypotelorism	51199	NIN	OMIM:614851
HP:0000601	Hypotelorism	51199	NIN	ORPHA:319675
HP:0000601	Hypotelorism	5144	PDE4D	ORPHA:439822
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93926
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93924
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93925
HP:0000601	Hypotelorism	6491	STIL	ORPHA:220386
HP:0000601	Hypotelorism	2783	GNB2	OMIM:619503
HP:0000601	Hypotelorism	23007	PLCH1	ORPHA:93925
HP:0000601	Hypotelorism	10735	STAG2	ORPHA:93925
HP:0000601	Hypotelorism	10735	STAG2	ORPHA:220386
HP:0000601	Hypotelorism	6638	SNRPN	ORPHA:177907
HP:0000601	Hypotelorism	55154	MSTO1	ORPHA:502423
HP:0000601	Hypotelorism	10801	SEPTIN9	OMIM:162100
HP:0000601	Hypotelorism	8943	AP3D1	OMIM:617050
HP:0000601	Hypotelorism	1182	CLCN3	OMIM:619512
HP:0000601	Hypotelorism	1859	DYRK1A	OMIM:614104
HP:0000601	Hypotelorism	2121	EVC	OMIM:193530
HP:0000601	Hypotelorism	132884	EVC2	OMIM:193530
HP:0000601	Hypotelorism	10056	FARSB	OMIM:613658
HP:0000601	Hypotelorism	11128	POLR3A	OMIM:264090
HP:0000601	Hypotelorism	25914	RTTN	ORPHA:468631
HP:0000601	Hypotelorism	145258	GSC	OMIM:602471
HP:0000601	Hypotelorism	284252	KCTD1	OMIM:181270
HP:0000601	Hypotelorism	374879	ZNF699	OMIM:619488
HP:0000601	Hypotelorism	5159	PDGFRB	OMIM:601812
HP:0000601	Hypotelorism	8239	USP9X	OMIM:300968
HP:0000601	Hypotelorism	90416	CCDC32	OMIM:619123
HP:0000601	Hypotelorism	4849	CNOT3	OMIM:618672
HP:0000601	Hypotelorism	6786	STIM1	OMIM:185070
HP:0000601	Hypotelorism	9702	CEP57	OMIM:614114
HP:0000601	Hypotelorism	5832	ALDH18A1	OMIM:219150
HP:0000601	Hypotelorism	84919	PPP1R15B	OMIM:616817
HP:0000601	Hypotelorism	84919	PPP1R15B	ORPHA:391408
HP:0000601	Hypotelorism	93587	TRMT10A	ORPHA:391408
HP:0000601	Hypotelorism	6714	SRC	OMIM:616937
HP:0000601	Hypotelorism	51085	MLXIPL	OMIM:194050
HP:0000601	Hypotelorism	2006	ELN	OMIM:194050
HP:0000601	Hypotelorism	84628	NTNG2	OMIM:618718
HP:0000601	Hypotelorism	4488	MSX2	OMIM:604757
HP:0000601	Hypotelorism	57724	EPG5	OMIM:242840
HP:0000601	Hypotelorism	57724	EPG5	ORPHA:1493
HP:0000601	Hypotelorism	4677	NARS1	OMIM:619091
HP:0000601	Hypotelorism	2177	FANCD2	OMIM:227646
HP:0000601	Hypotelorism	54888	NSUN2	OMIM:611091
HP:0000601	Hypotelorism	7518	XRCC4	OMIM:616541
HP:0000601	Hypotelorism	2678	GGT1	OMIM:231950
HP:0000601	Hypotelorism	22930	RAB3GAP1	ORPHA:1387
HP:0000601	Hypotelorism	25782	RAB3GAP2	ORPHA:1387
HP:0000601	Hypotelorism	284058	KANSL1	OMIM:610443
HP:0000601	Hypotelorism	404672	GTF2H5	ORPHA:33364
HP:0000601	Hypotelorism	404672	GTF2H5	OMIM:616395
HP:0000601	Hypotelorism	833	CARS1	ORPHA:33364
HP:0000601	Hypotelorism	2068	ERCC2	ORPHA:33364
HP:0000601	Hypotelorism	7737	RNF113A	ORPHA:33364
HP:0000601	Hypotelorism	136647	MPLKIP	ORPHA:33364
HP:0000601	Hypotelorism	6897	TARS1	ORPHA:33364
HP:0000601	Hypotelorism	2071	ERCC3	ORPHA:33364
HP:0000601	Hypotelorism	2961	GTF2E2	ORPHA:33364
HP:0000601	Hypotelorism	4693	NDP	ORPHA:649
HP:0000601	Hypotelorism	5631	PRPS1	OMIM:300661
HP:0000601	Hypotelorism	8295	TRRAP	OMIM:618454
HP:0000601	Hypotelorism	54903	MKS1	OMIM:249000
HP:0000601	Hypotelorism	1523	CUX1	OMIM:618330
HP:0000601	Hypotelorism	2702	GJA5	OMIM:612474
HP:0000601	Hypotelorism	2703	GJA8	OMIM:612474
HP:0000601	Hypotelorism	84148	KAT8	OMIM:618974
HP:0000601	Hypotelorism	1642	DDB1	OMIM:619426
HP:0000601	Hypotelorism	51002	TPRKB	ORPHA:2065
HP:0000601	Hypotelorism	84942	WDR73	ORPHA:2065
HP:0000601	Hypotelorism	55644	OSGEP	ORPHA:2065
HP:0000601	Hypotelorism	57122	NUP107	ORPHA:2065
HP:0000601	Hypotelorism	10785	WDR4	ORPHA:2065
HP:0000601	Hypotelorism	55746	NUP133	ORPHA:2065
HP:0000601	Hypotelorism	112858	TP53RK	ORPHA:2065
HP:0000601	Hypotelorism	8270	LAGE3	ORPHA:2065
HP:0000601	Hypotelorism	64858	DCLRE1B	OMIM:620133
HP:0000601	Hypotelorism	10075	HUWE1	OMIM:309590
HP:0000602	Ophthalmoplegia	3980	LIG3	ORPHA:298
HP:0000602	Ophthalmoplegia	353116	RILPL1	OMIM:619790
HP:0000602	Ophthalmoplegia	2483	FRG1	OMIM:158900
HP:0000602	Ophthalmoplegia	35	ACADS	OMIM:201470
HP:0000602	Ophthalmoplegia	63899	NSUN3	OMIM:619012
HP:0000602	Ophthalmoplegia	57167	SALL4	OMIM:147750
HP:0000602	Ophthalmoplegia	6390	SDHB	ORPHA:3208
HP:0000602	Ophthalmoplegia	6392	SDHD	ORPHA:3208
HP:0000602	Ophthalmoplegia	644096	SDHAF1	ORPHA:3208
HP:0000602	Ophthalmoplegia	90624	LYRM7	OMIM:615838
HP:0000602	Ophthalmoplegia	29967	LRP12	OMIM:164310
HP:0000602	Ophthalmoplegia	4534	MTM1	OMIM:310400
HP:0000602	Ophthalmoplegia	64419	MTMR14	ORPHA:169189
HP:0000602	Ophthalmoplegia	64419	MTMR14	OMIM:160150
HP:0000602	Ophthalmoplegia	4618	MYF6	ORPHA:169189
HP:0000602	Ophthalmoplegia	1785	DNM2	ORPHA:169189
HP:0000602	Ophthalmoplegia	1785	DNM2	OMIM:160150
HP:0000602	Ophthalmoplegia	4556	MT-TE	ORPHA:225
HP:0000602	Ophthalmoplegia	84842	HPDL	OMIM:619026
HP:0000602	Ophthalmoplegia	10533	ATG7	OMIM:619422
HP:0000602	Ophthalmoplegia	56947	MFF	OMIM:617086
HP:0000602	Ophthalmoplegia	56947	MFF	ORPHA:485421
HP:0000602	Ophthalmoplegia	4617	MYF5	OMIM:618155
HP:0000602	Ophthalmoplegia	101060691	NUTM2B-AS1	OMIM:618637
HP:0000602	Ophthalmoplegia	113278	SLC52A3	OMIM:211530
HP:0000602	Ophthalmoplegia	6786	STIM1	OMIM:160565
HP:0000602	Ophthalmoplegia	4558	MT-TF	ORPHA:550
HP:0000602	Ophthalmoplegia	4572	MT-TQ	ORPHA:550
HP:0000602	Ophthalmoplegia	4512	MT-CO1	ORPHA:550
HP:0000602	Ophthalmoplegia	4513	MT-CO2	ORPHA:550
HP:0000602	Ophthalmoplegia	4514	MT-CO3	ORPHA:550
HP:0000602	Ophthalmoplegia	4578	MT-TW	ORPHA:550
HP:0000602	Ophthalmoplegia	4540	MT-ND5	ORPHA:550
HP:0000602	Ophthalmoplegia	4541	MT-ND6	ORPHA:550
HP:0000602	Ophthalmoplegia	4535	MT-ND1	ORPHA:550
HP:0000602	Ophthalmoplegia	4538	MT-ND4	ORPHA:550
HP:0000602	Ophthalmoplegia	4567	MT-TL1	ORPHA:550
HP:0000602	Ophthalmoplegia	4567	MT-TL1	ORPHA:663
HP:0000602	Ophthalmoplegia	4567	MT-TL1	ORPHA:480
HP:0000602	Ophthalmoplegia	4574	MT-TS1	ORPHA:550
HP:0000602	Ophthalmoplegia	4574	MT-TS1	ORPHA:663
HP:0000602	Ophthalmoplegia	4575	MT-TS2	ORPHA:550
HP:0000602	Ophthalmoplegia	4564	MT-TH	ORPHA:550
HP:0000602	Ophthalmoplegia	1716	DGUOK	OMIM:617070
HP:0000602	Ophthalmoplegia	1716	DGUOK	ORPHA:329314
HP:0000602	Ophthalmoplegia	7084	TK2	ORPHA:254875
HP:0000602	Ophthalmoplegia	7084	TK2	OMIM:617069
HP:0000602	Ophthalmoplegia	1763	DNA2	OMIM:615156
HP:0000602	Ophthalmoplegia	1763	DNA2	ORPHA:352470
HP:0000602	Ophthalmoplegia	4576	MT-TT	ORPHA:254857
HP:0000602	Ophthalmoplegia	50484	RRM2B	OMIM:613077
HP:0000602	Ophthalmoplegia	50484	RRM2B	ORPHA:329336
HP:0000602	Ophthalmoplegia	50484	RRM2B	ORPHA:480
HP:0000602	Ophthalmoplegia	246243	RNASEH1	ORPHA:329336
HP:0000602	Ophthalmoplegia	246243	RNASEH1	OMIM:616479
HP:0000602	Ophthalmoplegia	291	SLC25A4	OMIM:609283
HP:0000602	Ophthalmoplegia	708	C1QBP	OMIM:617713
HP:0000602	Ophthalmoplegia	1890	TYMP	OMIM:603041
HP:0000602	Ophthalmoplegia	4287	ATXN3	ORPHA:276244
HP:0000602	Ophthalmoplegia	4287	ATXN3	ORPHA:276241
HP:0000602	Ophthalmoplegia	4287	ATXN3	ORPHA:276238
HP:0000602	Ophthalmoplegia	4566	MT-TK	ORPHA:1349
HP:0000602	Ophthalmoplegia	4976	OPA1	OMIM:165500
HP:0000602	Ophthalmoplegia	4976	OPA1	ORPHA:1215
HP:0000602	Ophthalmoplegia	57176	VARS2	OMIM:615917
HP:0000602	Ophthalmoplegia	56652	TWNK	OMIM:609286
HP:0000602	Ophthalmoplegia	56652	TWNK	OMIM:607459
HP:0000602	Ophthalmoplegia	92667	MGME1	ORPHA:352447
HP:0000602	Ophthalmoplegia	92667	MGME1	OMIM:615084
HP:0000602	Ophthalmoplegia	4568	MT-TL2	ORPHA:663
HP:0000602	Ophthalmoplegia	4570	MT-TN	ORPHA:663
HP:0000602	Ophthalmoplegia	4509	MT-ATP8	ORPHA:480
HP:0000602	Ophthalmoplegia	5442	POLRMT	OMIM:619743
HP:0000602	Ophthalmoplegia	7156	TOP3A	OMIM:618098
HP:0000602	Ophthalmoplegia	11232	POLG2	OMIM:610131
HP:0000602	Ophthalmoplegia	54840	APTX	OMIM:208920
HP:0000602	Ophthalmoplegia	10755	GIPC1	ORPHA:98897
HP:0000602	Ophthalmoplegia	100996717	NOTCH2NLC	ORPHA:98897
HP:0000602	Ophthalmoplegia	274	BIN1	ORPHA:169186
HP:0000602	Ophthalmoplegia	274	BIN1	OMIM:255200
HP:0000602	Ophthalmoplegia	10290	SPEG	ORPHA:169186
HP:0000602	Ophthalmoplegia	10290	SPEG	OMIM:615959
HP:0000602	Ophthalmoplegia	6261	RYR1	ORPHA:169186
HP:0000602	Ophthalmoplegia	6261	RYR1	ORPHA:424107
HP:0000602	Ophthalmoplegia	6261	RYR1	ORPHA:597
HP:0000602	Ophthalmoplegia	7273	TTN	ORPHA:169186
HP:0000602	Ophthalmoplegia	1134	CHRNA1	OMIM:601462
HP:0000602	Ophthalmoplegia	92840	REEP6	ORPHA:791
HP:0000602	Ophthalmoplegia	6094	ROM1	ORPHA:791
HP:0000602	Ophthalmoplegia	6017	RLBP1	ORPHA:791
HP:0000602	Ophthalmoplegia	7401	CLRN1	ORPHA:791
HP:0000602	Ophthalmoplegia	24	ABCA4	ORPHA:791
HP:0000602	Ophthalmoplegia	130557	ZNF513	ORPHA:791
HP:0000602	Ophthalmoplegia	582	BBS1	ORPHA:791
HP:0000602	Ophthalmoplegia	92211	CDHR1	ORPHA:791
HP:0000602	Ophthalmoplegia	23568	ARL2BP	ORPHA:791
HP:0000602	Ophthalmoplegia	6121	RPE65	ORPHA:791
HP:0000602	Ophthalmoplegia	54806	AHI1	ORPHA:791
HP:0000602	Ophthalmoplegia	6101	RP1	ORPHA:791
HP:0000602	Ophthalmoplegia	3419	IDH3A	ORPHA:791
HP:0000602	Ophthalmoplegia	4751	NEK2	ORPHA:791
HP:0000602	Ophthalmoplegia	346007	EYS	ORPHA:791
HP:0000602	Ophthalmoplegia	8100	IFT88	ORPHA:791
HP:0000602	Ophthalmoplegia	23020	SNRNP200	ORPHA:791
HP:0000602	Ophthalmoplegia	762	CA4	ORPHA:791
HP:0000602	Ophthalmoplegia	138050	HGSNAT	ORPHA:791
HP:0000602	Ophthalmoplegia	196	AHR	ORPHA:791
HP:0000602	Ophthalmoplegia	3614	IMPDH1	ORPHA:791
HP:0000602	Ophthalmoplegia	123016	TTC8	ORPHA:791
HP:0000602	Ophthalmoplegia	6103	RPGR	ORPHA:791
HP:0000602	Ophthalmoplegia	1406	CRX	ORPHA:791
HP:0000602	Ophthalmoplegia	5148	PDE6G	ORPHA:791
HP:0000602	Ophthalmoplegia	26160	IFT172	ORPHA:791
HP:0000602	Ophthalmoplegia	26121	PRPF31	ORPHA:791
HP:0000602	Ophthalmoplegia	583	BBS2	ORPHA:791
HP:0000602	Ophthalmoplegia	4117	MAK	ORPHA:791
HP:0000602	Ophthalmoplegia	25794	FSCN2	ORPHA:791
HP:0000602	Ophthalmoplegia	375298	CERKL	ORPHA:791
HP:0000602	Ophthalmoplegia	3420	IDH3B	ORPHA:791
HP:0000602	Ophthalmoplegia	57670	KIAA1549	ORPHA:791
HP:0000602	Ophthalmoplegia	7275	TUB	ORPHA:791
HP:0000602	Ophthalmoplegia	24148	PRPF6	ORPHA:791
HP:0000602	Ophthalmoplegia	23418	CRB1	ORPHA:791
HP:0000602	Ophthalmoplegia	10461	MERTK	ORPHA:791
HP:0000602	Ophthalmoplegia	57709	SLC7A14	ORPHA:791
HP:0000602	Ophthalmoplegia	768206	PRCD	ORPHA:791
HP:0000602	Ophthalmoplegia	7399	USH2A	ORPHA:791
HP:0000602	Ophthalmoplegia	23370	ARHGEF18	ORPHA:791
HP:0000602	Ophthalmoplegia	5949	RBP3	ORPHA:791
HP:0000602	Ophthalmoplegia	6010	RHO	ORPHA:791
HP:0000602	Ophthalmoplegia	6100	RP9	ORPHA:791
HP:0000602	Ophthalmoplegia	10002	NR2E3	ORPHA:791
HP:0000602	Ophthalmoplegia	9227	LRAT	ORPHA:791
HP:0000602	Ophthalmoplegia	84140	FAM161A	ORPHA:791
HP:0000602	Ophthalmoplegia	55812	SPATA7	ORPHA:791
HP:0000602	Ophthalmoplegia	55624	POMGNT1	ORPHA:791
HP:0000602	Ophthalmoplegia	79797	ZNF408	ORPHA:791
HP:0000602	Ophthalmoplegia	403	ARL3	ORPHA:791
HP:0000602	Ophthalmoplegia	5145	PDE6A	ORPHA:791
HP:0000602	Ophthalmoplegia	10210	TOPORS	ORPHA:791
HP:0000602	Ophthalmoplegia	8842	PROM1	ORPHA:791
HP:0000602	Ophthalmoplegia	9128	PRPF4	ORPHA:791
HP:0000602	Ophthalmoplegia	145226	RDH12	ORPHA:791
HP:0000602	Ophthalmoplegia	50939	IMPG2	ORPHA:791
HP:0000602	Ophthalmoplegia	8481	OFD1	ORPHA:791
HP:0000602	Ophthalmoplegia	49855	SCAPER	ORPHA:791
HP:0000602	Ophthalmoplegia	9742	IFT140	ORPHA:791
HP:0000602	Ophthalmoplegia	2979	GUCA1B	ORPHA:791
HP:0000602	Ophthalmoplegia	1259	CNGA1	ORPHA:791
HP:0000602	Ophthalmoplegia	1258	CNGB1	ORPHA:791
HP:0000602	Ophthalmoplegia	60509	AGBL5	ORPHA:791
HP:0000602	Ophthalmoplegia	5961	PRPH2	ORPHA:791
HP:0000602	Ophthalmoplegia	388939	PCARE	ORPHA:791
HP:0000602	Ophthalmoplegia	7439	BEST1	ORPHA:791
HP:0000602	Ophthalmoplegia	9785	DHX38	ORPHA:791
HP:0000602	Ophthalmoplegia	7287	TULP1	ORPHA:791
HP:0000602	Ophthalmoplegia	5995	RGR	ORPHA:791
HP:0000602	Ophthalmoplegia	9129	PRPF3	ORPHA:791
HP:0000602	Ophthalmoplegia	55975	KLHL7	ORPHA:791
HP:0000602	Ophthalmoplegia	3617	IMPG1	ORPHA:791
HP:0000602	Ophthalmoplegia	94137	RP1L1	ORPHA:791
HP:0000602	Ophthalmoplegia	5158	PDE6B	ORPHA:791
HP:0000602	Ophthalmoplegia	6102	RP2	ORPHA:791
HP:0000602	Ophthalmoplegia	55857	KIZ	ORPHA:791
HP:0000602	Ophthalmoplegia	64218	SEMA4A	ORPHA:791
HP:0000602	Ophthalmoplegia	4901	NRL	ORPHA:791
HP:0000602	Ophthalmoplegia	157657	CFAP418	ORPHA:791
HP:0000602	Ophthalmoplegia	10594	PRPF8	ORPHA:791
HP:0000602	Ophthalmoplegia	84100	ARL6	ORPHA:791
HP:0000602	Ophthalmoplegia	6295	SAG	ORPHA:791
HP:0000602	Ophthalmoplegia	79947	DHDDS	ORPHA:791
HP:0000602	Ophthalmoplegia	91574	MTRFR	ORPHA:254930
HP:0000602	Ophthalmoplegia	91574	MTRFR	OMIM:613559
HP:0000602	Ophthalmoplegia	91574	MTRFR	ORPHA:320375
HP:0000602	Ophthalmoplegia	8106	PABPN1	ORPHA:270
HP:0000602	Ophthalmoplegia	4723	NDUFV1	OMIM:618225
HP:0000602	Ophthalmoplegia	4723	NDUFV1	ORPHA:255241
HP:0000602	Ophthalmoplegia	1144	CHRND	OMIM:616322
HP:0000602	Ophthalmoplegia	56203	LMOD3	OMIM:616165
HP:0000602	Ophthalmoplegia	56203	LMOD3	ORPHA:171430
HP:0000602	Ophthalmoplegia	4593	MUSK	OMIM:616325
HP:0000602	Ophthalmoplegia	1145	CHRNE	OMIM:616324
HP:0000602	Ophthalmoplegia	4719	NDUFS1	OMIM:618226
HP:0000602	Ophthalmoplegia	4719	NDUFS1	ORPHA:255241
HP:0000602	Ophthalmoplegia	84570	COL25A1	ORPHA:91411
HP:0000602	Ophthalmoplegia	79776	ZFHX4	ORPHA:91411
HP:0000602	Ophthalmoplegia	10479	SLC9A6	OMIM:300243
HP:0000602	Ophthalmoplegia	10479	SLC9A6	ORPHA:85278
HP:0000602	Ophthalmoplegia	58	ACTA1	ORPHA:171433
HP:0000602	Ophthalmoplegia	58	ACTA1	ORPHA:171430
HP:0000602	Ophthalmoplegia	58	ACTA1	ORPHA:2020
HP:0000602	Ophthalmoplegia	4703	NEB	ORPHA:171433
HP:0000602	Ophthalmoplegia	4703	NEB	ORPHA:171430
HP:0000602	Ophthalmoplegia	10324	KLHL41	ORPHA:171433
HP:0000602	Ophthalmoplegia	10324	KLHL41	ORPHA:171430
HP:0000602	Ophthalmoplegia	7170	TPM3	ORPHA:171433
HP:0000602	Ophthalmoplegia	7170	TPM3	ORPHA:2020
HP:0000602	Ophthalmoplegia	7170	TPM3	OMIM:255310
HP:0000602	Ophthalmoplegia	6311	ATXN2	OMIM:183090
HP:0000602	Ophthalmoplegia	131377	KLHL40	ORPHA:171430
HP:0000602	Ophthalmoplegia	4649	MYO9A	OMIM:618198
HP:0000602	Ophthalmoplegia	4649	MYO9A	ORPHA:98914
HP:0000602	Ophthalmoplegia	10059	DNM1L	ORPHA:98673
HP:0000602	Ophthalmoplegia	7259	TSPYL1	ORPHA:168593
HP:0000602	Ophthalmoplegia	4519	MT-CYB	OMIM:540000
HP:0000602	Ophthalmoplegia	4511	MT-TC	OMIM:540000
HP:0000602	Ophthalmoplegia	4577	MT-TV	OMIM:540000
HP:0000602	Ophthalmoplegia	5980	REV3L	ORPHA:570
HP:0000602	Ophthalmoplegia	23129	PLXND1	ORPHA:570
HP:0000602	Ophthalmoplegia	8888	MCM3AP	OMIM:618124
HP:0000602	Ophthalmoplegia	4547	MTTP	ORPHA:14
HP:0000602	Ophthalmoplegia	4620	MYH2	OMIM:605637
HP:0000602	Ophthalmoplegia	343641	TGM6	ORPHA:276193
HP:0000602	Ophthalmoplegia	10367	MICU1	ORPHA:401768
HP:0000602	Ophthalmoplegia	57190	SELENON	ORPHA:2020
HP:0000602	Ophthalmoplegia	4633	MYL2	ORPHA:2020
HP:0000602	Ophthalmoplegia	3679	ITGA7	ORPHA:2020
HP:0000602	Ophthalmoplegia	7169	TPM2	ORPHA:2020
HP:0000602	Ophthalmoplegia	9200	HACD1	ORPHA:2020
HP:0000602	Ophthalmoplegia	51776	MAP3K20	ORPHA:2020
HP:0000602	Ophthalmoplegia	23203	PMPCA	ORPHA:1170
HP:0000602	Ophthalmoplegia	27010	TPK1	OMIM:614458
HP:0000602	Ophthalmoplegia	3752	KCND3	ORPHA:98772
HP:0000602	Ophthalmoplegia	63895	PIEZO2	OMIM:114300
HP:0000602	Ophthalmoplegia	63895	PIEZO2	OMIM:108145
HP:0000602	Ophthalmoplegia	63895	PIEZO2	ORPHA:1154
HP:0000602	Ophthalmoplegia	8314	BAP1	ORPHA:2495
HP:0000602	Ophthalmoplegia	4771	NF2	ORPHA:2495
HP:0000602	Ophthalmoplegia	6598	SMARCB1	ORPHA:2495
HP:0000602	Ophthalmoplegia	5155	PDGFB	ORPHA:2495
HP:0000602	Ophthalmoplegia	84231	TRAF7	ORPHA:2495
HP:0000602	Ophthalmoplegia	6608	SMO	ORPHA:2495
HP:0000602	Ophthalmoplegia	207	AKT1	ORPHA:2495
HP:0000602	Ophthalmoplegia	5290	PIK3CA	ORPHA:2495
HP:0000602	Ophthalmoplegia	7015	TERT	ORPHA:2495
HP:0000602	Ophthalmoplegia	51684	SUFU	ORPHA:2495
HP:0000602	Ophthalmoplegia	6605	SMARCE1	ORPHA:2495
HP:0000602	Ophthalmoplegia	6329	SCN4A	ORPHA:99735
HP:0000602	Ophthalmoplegia	6329	SCN4A	ORPHA:99736
HP:0000602	Ophthalmoplegia	493856	CISD2	ORPHA:3463
HP:0000602	Ophthalmoplegia	7466	WFS1	ORPHA:3463
HP:0000602	Ophthalmoplegia	3845	KRAS	OMIM:163200
HP:0000602	Ophthalmoplegia	4893	NRAS	OMIM:163200
HP:0000602	Ophthalmoplegia	3265	HRAS	OMIM:163200
HP:0000602	Ophthalmoplegia	25915	NDUFAF3	ORPHA:70474
HP:0000602	Ophthalmoplegia	4714	NDUFB8	ORPHA:70474
HP:0000602	Ophthalmoplegia	4720	NDUFS2	ORPHA:70474
HP:0000602	Ophthalmoplegia	4720	NDUFS2	ORPHA:255241
HP:0000602	Ophthalmoplegia	9997	SCO2	ORPHA:70474
HP:0000602	Ophthalmoplegia	6834	SURF1	ORPHA:70474
HP:0000602	Ophthalmoplegia	6834	SURF1	ORPHA:255241
HP:0000602	Ophthalmoplegia	6305	SBF1	OMIM:615284
HP:0000602	Ophthalmoplegia	5130	PCYT1A	ORPHA:85167
HP:0000602	Ophthalmoplegia	51816	ADA2	OMIM:615688
HP:0000602	Ophthalmoplegia	79152	FA2H	ORPHA:171629
HP:0000602	Ophthalmoplegia	60482	SLC5A7	ORPHA:98914
HP:0000602	Ophthalmoplegia	1305	COL13A1	ORPHA:98914
HP:0000602	Ophthalmoplegia	1103	CHAT	ORPHA:98914
HP:0000602	Ophthalmoplegia	6576	SLC25A1	ORPHA:98914
HP:0000602	Ophthalmoplegia	6843	VAMP1	ORPHA:98914
HP:0000602	Ophthalmoplegia	375790	AGRN	ORPHA:98914
HP:0000602	Ophthalmoplegia	127833	SYT2	ORPHA:98914
HP:0000602	Ophthalmoplegia	6572	SLC18A3	ORPHA:98914
HP:0000602	Ophthalmoplegia	6572	SLC18A3	OMIM:617239
HP:0000602	Ophthalmoplegia	6616	SNAP25	ORPHA:98914
HP:0000602	Ophthalmoplegia	6389	SDHA	ORPHA:255241
HP:0000602	Ophthalmoplegia	6389	SDHA	OMIM:252011
HP:0000602	Ophthalmoplegia	80704	SLC19A3	ORPHA:255241
HP:0000602	Ophthalmoplegia	91942	NDUFAF2	ORPHA:255241
HP:0000602	Ophthalmoplegia	55572	FOXRED1	ORPHA:255241
HP:0000602	Ophthalmoplegia	4729	NDUFV2	ORPHA:255241
HP:0000602	Ophthalmoplegia	55967	NDUFA12	ORPHA:255241
HP:0000602	Ophthalmoplegia	51204	TACO1	ORPHA:255241
HP:0000602	Ophthalmoplegia	4724	NDUFS4	ORPHA:255241
HP:0000602	Ophthalmoplegia	4728	NDUFS8	ORPHA:255241
HP:0000602	Ophthalmoplegia	137682	NDUFAF6	ORPHA:255241
HP:0000602	Ophthalmoplegia	4722	NDUFS3	ORPHA:255241
HP:0000602	Ophthalmoplegia	79133	NDUFAF5	ORPHA:255241
HP:0000602	Ophthalmoplegia	5160	PDHA1	ORPHA:255241
HP:0000602	Ophthalmoplegia	100131801	PET100	ORPHA:255241
HP:0000602	Ophthalmoplegia	1355	COX15	ORPHA:255241
HP:0000602	Ophthalmoplegia	1892	ECHS1	ORPHA:255241
HP:0000602	Ophthalmoplegia	123263	MTFMT	ORPHA:255241
HP:0000602	Ophthalmoplegia	51079	NDUFA13	ORPHA:255241
HP:0000602	Ophthalmoplegia	374291	NDUFS7	ORPHA:255241
HP:0000602	Ophthalmoplegia	4705	NDUFA10	ORPHA:255241
HP:0000602	Ophthalmoplegia	51601	LIPT1	ORPHA:255241
HP:0000602	Ophthalmoplegia	4695	NDUFA2	ORPHA:255241
HP:0000602	Ophthalmoplegia	4697	NDUFA4	ORPHA:255241
HP:0000602	Ophthalmoplegia	4704	NDUFA9	ORPHA:255241
HP:0000602	Ophthalmoplegia	5339	PLEC	ORPHA:257
HP:0000602	Ophthalmoplegia	55739	NAXD	OMIM:618321
HP:0000602	Ophthalmoplegia	2629	GBA1	ORPHA:2072
HP:0000602	Ophthalmoplegia	2629	GBA1	ORPHA:77261
HP:0000602	Ophthalmoplegia	2629	GBA1	OMIM:230900
HP:0000602	Ophthalmoplegia	2629	GBA1	ORPHA:77260
HP:0000602	Ophthalmoplegia	84833	ATP5MK	OMIM:618683
HP:0000602	Ophthalmoplegia	10273	STUB1	ORPHA:412057
HP:0000602	Ophthalmoplegia	779	CACNA1S	OMIM:620246
HP:0000602	Ophthalmoplegia	124454	EARS2	OMIM:614924
HP:0000602	Ophthalmoplegia	6314	ATXN7	ORPHA:94147
HP:0000602	Ophthalmoplegia	54936	ADPRS	OMIM:618170
HP:0000602	Ophthalmoplegia	3908	LAMA2	OMIM:607855
HP:0000602	Ophthalmoplegia	57647	DHX37	OMIM:618731
HP:0000602	Ophthalmoplegia	8803	SUCLA2	OMIM:612073
HP:0000602	Ophthalmoplegia	1140	CHRNB1	OMIM:616313
HP:0000602	Ophthalmoplegia	389827	MYMK	OMIM:254940
HP:0000602	Ophthalmoplegia	6310	ATXN1	OMIM:164400
HP:0000602	Ophthalmoplegia	64221	ROBO3	OMIM:607313
HP:0000602	Ophthalmoplegia	6792	CDKL5	ORPHA:3095
HP:0000602	Ophthalmoplegia	22854	NTNG1	ORPHA:3095
HP:0000602	Ophthalmoplegia	9568	GABBR2	ORPHA:3095
HP:0000602	Ophthalmoplegia	4204	MECP2	ORPHA:3095
HP:0000602	Ophthalmoplegia	8243	SMC1A	ORPHA:3095
HP:0000602	Ophthalmoplegia	5428	POLG	OMIM:157640
HP:0000602	Ophthalmoplegia	2902	GRIN1	ORPHA:208447
HP:0000602	Ophthalmoplegia	91147	TMEM67	OMIM:602152
HP:0000602	Ophthalmoplegia	10381	TUBB3	OMIM:600638
HP:0000602	Ophthalmoplegia	401	PHOX2A	OMIM:602078
HP:0000602	Ophthalmoplegia	55605	KIF21A	OMIM:135700
HP:0000602	Ophthalmoplegia	64072	CDH23	ORPHA:91347
HP:0000602	Ophthalmoplegia	64072	CDH23	ORPHA:2965
HP:0000602	Ophthalmoplegia	4221	MEN1	ORPHA:2965
HP:0000602	Ophthalmoplegia	9049	AIP	ORPHA:2965
HP:0000603	Central scotoma	10059	DNM1L	ORPHA:98673
HP:0000603	Central scotoma	10059	DNM1L	OMIM:610708
HP:0000603	Central scotoma	4976	OPA1	ORPHA:98673
HP:0000603	Central scotoma	4976	OPA1	OMIM:165500
HP:0000603	Central scotoma	4976	OPA1	OMIM:125250
HP:0000603	Central scotoma	778	CACNA1F	OMIM:300476
HP:0000603	Central scotoma	22926	ATF6	ORPHA:49382
HP:0000603	Central scotoma	22926	ATF6	OMIM:616517
HP:0000603	Central scotoma	5146	PDE6C	ORPHA:49382
HP:0000603	Central scotoma	6103	RPGR	ORPHA:49382
HP:0000603	Central scotoma	5149	PDE6H	ORPHA:49382
HP:0000603	Central scotoma	2780	GNAT2	ORPHA:49382
HP:0000603	Central scotoma	1261	CNGA3	ORPHA:49382
HP:0000603	Central scotoma	54714	CNGB3	ORPHA:49382
HP:0000603	Central scotoma	54714	CNGB3	ORPHA:827
HP:0000603	Central scotoma	24	ABCA4	OMIM:604116
HP:0000603	Central scotoma	24	ABCA4	ORPHA:827
HP:0000603	Central scotoma	83394	PITPNM3	OMIM:600977
HP:0000603	Central scotoma	80207	OPA3	ORPHA:67036
HP:0000603	Central scotoma	5949	RBP3	OMIM:615233
HP:0000603	Central scotoma	91574	MTRFR	OMIM:615035
HP:0000603	Central scotoma	9364	RAB28	OMIM:615374
HP:0000603	Central scotoma	282809	POC1B	OMIM:615973
HP:0000603	Central scotoma	138050	HGSNAT	OMIM:616544
HP:0000603	Central scotoma	285440	CYP4V2	ORPHA:41751
HP:0000603	Central scotoma	8842	PROM1	OMIM:608051
HP:0000603	Central scotoma	8842	PROM1	ORPHA:827
HP:0000603	Central scotoma	8842	PROM1	OMIM:612657
HP:0000603	Central scotoma	5961	PRPH2	ORPHA:827
HP:0000603	Central scotoma	5961	PRPH2	ORPHA:52427
HP:0000603	Central scotoma	6785	ELOVL4	ORPHA:827
HP:0000603	Central scotoma	6102	RP2	OMIM:312600
HP:0000603	Central scotoma	84233	TMEM126A	OMIM:612989
HP:0000603	Central scotoma	1406	CRX	OMIM:120970
HP:0000603	Central scotoma	84277	DNAJC30	ORPHA:104
HP:0000603	Central scotoma	84277	DNAJC30	OMIM:619382
HP:0000603	Central scotoma	4535	MT-ND1	ORPHA:104
HP:0000603	Central scotoma	4536	MT-ND2	ORPHA:104
HP:0000603	Central scotoma	4538	MT-ND4	ORPHA:104
HP:0000603	Central scotoma	4720	NDUFS2	ORPHA:104
HP:0000603	Central scotoma	4512	MT-CO1	ORPHA:104
HP:0000603	Central scotoma	4514	MT-CO3	ORPHA:104
HP:0000603	Central scotoma	4519	MT-CYB	ORPHA:104
HP:0000603	Central scotoma	4508	MT-ATP6	ORPHA:104
HP:0000603	Central scotoma	4540	MT-ND5	ORPHA:104
HP:0000603	Central scotoma	4541	MT-ND6	ORPHA:104
HP:0000603	Central scotoma	4539	MT-ND4L	ORPHA:104
HP:0000603	Central scotoma	1678	TIMM8A	ORPHA:52368
HP:0000603	Central scotoma	256471	MFSD8	OMIM:616170
HP:0000603	Central scotoma	6017	RLBP1	ORPHA:52427
HP:0000603	Central scotoma	6017	RLBP1	ORPHA:85128
HP:0000603	Central scotoma	6010	RHO	ORPHA:52427
HP:0000603	Central scotoma	5959	RDH5	ORPHA:52427
HP:0000603	Central scotoma	50939	IMPG2	OMIM:616152
HP:0000603	Central scotoma	2232	FDXR	ORPHA:543470
HP:0000603	Central scotoma	9445	ITM2B	OMIM:616079
HP:0000603	Central scotoma	755	CFAP410	OMIM:617547
HP:0000603	Central scotoma	84816	RTN4IP1	OMIM:616732
HP:0000603	Central scotoma	2202	EFEMP1	ORPHA:98977
HP:0000603	Central scotoma	1545	CYP1B1	ORPHA:98977
HP:0000603	Central scotoma	4653	MYOC	ORPHA:98977
HP:0000603	Central scotoma	9927	MFN2	OMIM:601152
HP:0000605	Supranuclear gaze palsy	10577	NPC2	OMIM:607625
HP:0000605	Supranuclear gaze palsy	5354	PLP1	OMIM:312080
HP:0000605	Supranuclear gaze palsy	123263	MTFMT	OMIM:618248
HP:0000605	Supranuclear gaze palsy	8659	ALDH4A1	ORPHA:79101
HP:0000605	Supranuclear gaze palsy	4864	NPC1	OMIM:257220
HP:0000605	Supranuclear gaze palsy	11128	POLR3A	ORPHA:447896
HP:0000605	Supranuclear gaze palsy	11128	POLR3A	OMIM:607694
HP:0000605	Supranuclear gaze palsy	128240	NAXE	OMIM:617186
HP:0000605	Supranuclear gaze palsy	5610	EIF2AK2	OMIM:619687
HP:0000605	Supranuclear gaze palsy	10528	NOP56	OMIM:614153
HP:0000605	Supranuclear gaze palsy	8309	ACOX2	OMIM:617308
HP:0000605	Supranuclear gaze palsy	1639	DCTN1	OMIM:168605
HP:0000605	Supranuclear gaze palsy	55703	POLR3B	OMIM:607694
HP:0000605	Supranuclear gaze palsy	440193	CCDC88C	ORPHA:423275
HP:0000605	Supranuclear gaze palsy	5621	PRNP	ORPHA:282166
HP:0000605	Supranuclear gaze palsy	5621	PRNP	OMIM:123400
HP:0000605	Supranuclear gaze palsy	4137	MAPT	OMIM:601104
HP:0000605	Supranuclear gaze palsy	4137	MAPT	ORPHA:240071
HP:0000605	Supranuclear gaze palsy	8867	SYNJ1	OMIM:615530
HP:0000605	Supranuclear gaze palsy	6843	VAMP1	OMIM:108600
HP:0000605	Supranuclear gaze palsy	6843	VAMP1	ORPHA:251282
HP:0000605	Supranuclear gaze palsy	2521	FUS	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	2521	FUS	ORPHA:300605
HP:0000605	Supranuclear gaze palsy	8878	SQSTM1	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	7415	VCP	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	23435	TARDBP	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	29110	TBK1	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	400916	CHCHD10	ORPHA:275872
HP:0000605	Supranuclear gaze palsy	203228	C9orf72	OMIM:105550
HP:0000605	Supranuclear gaze palsy	3119	HLA-DQB1	OMIM:123400
HP:0000605	Supranuclear gaze palsy	128989	TANGO2	ORPHA:480864
HP:0000605	Supranuclear gaze palsy	6687	SPG7	ORPHA:99013
HP:0000605	Supranuclear gaze palsy	80208	SPG11	ORPHA:300605
HP:0000605	Supranuclear gaze palsy	10280	SIGMAR1	ORPHA:300605
HP:0000605	Supranuclear gaze palsy	10558	SPTLC1	ORPHA:300605
HP:0000605	Supranuclear gaze palsy	57679	ALS2	ORPHA:300605
HP:0000605	Supranuclear gaze palsy	79152	FA2H	ORPHA:329308
HP:0000605	Supranuclear gaze palsy	120	ADD3	OMIM:617008
HP:0000605	Supranuclear gaze palsy	51271	UBAP1	OMIM:618418
HP:0000605	Supranuclear gaze palsy	6785	ELOVL4	OMIM:133190
HP:0000605	Supranuclear gaze palsy	5660	PSAP	OMIM:610539
HP:0000605	Supranuclear gaze palsy	64221	ROBO3	ORPHA:2744
HP:0000605	Supranuclear gaze palsy	64221	ROBO3	OMIM:607313
HP:0000605	Supranuclear gaze palsy	1630	DCC	ORPHA:2744
HP:0000605	Supranuclear gaze palsy	1630	DCC	OMIM:617542
HP:0000605	Supranuclear gaze palsy	3198	HOXA1	OMIM:601536
HP:0000605	Supranuclear gaze palsy	2629	GBA1	OMIM:231000
HP:0000605	Supranuclear gaze palsy	51604	PIGT	ORPHA:369837
HP:0000605	Supranuclear gaze palsy	2512	FTL	ORPHA:157846
HP:0000605	Supranuclear gaze palsy	91754	NEK9	OMIM:614262
HP:0000605	Supranuclear gaze palsy	23287	AGTPBP1	OMIM:618276
HP:0000605	Supranuclear gaze palsy	10157	AASS	ORPHA:2203
HP:0000605	Supranuclear gaze palsy	23230	VPS13A	ORPHA:2388
HP:0000605	Supranuclear gaze palsy	3748	KCNC3	ORPHA:98768
HP:0000605	Supranuclear gaze palsy	8398	PLA2G6	ORPHA:35069
HP:0000605	Supranuclear gaze palsy	1737	DLAT	ORPHA:79244
HP:0000605	Supranuclear gaze palsy	5428	POLG	ORPHA:70595
HP:0000605	Supranuclear gaze palsy	56652	TWNK	ORPHA:70595
HP:0000605	Supranuclear gaze palsy	23400	ATP13A2	ORPHA:314632
HP:0000605	Supranuclear gaze palsy	6310	ATXN1	ORPHA:98755
HP:0000606	Abnormality of the periorbital region	50964	SOST	OMIM:269500
HP:0000606	Abnormality of the periorbital region	23512	SUZ12	OMIM:618786
HP:0000606	Abnormality of the periorbital region	2892	GRIA3	ORPHA:364028
HP:0000606	Abnormality of the periorbital region	2892	GRIA3	OMIM:300699
HP:0000606	Abnormality of the periorbital region	57680	CHD8	OMIM:615032
HP:0000606	Abnormality of the periorbital region	5063	PAK3	OMIM:300558
HP:0000606	Abnormality of the periorbital region	5702	PSMC3	OMIM:619354
HP:0000606	Abnormality of the periorbital region	2316	FLNA	OMIM:314400
HP:0000606	Abnormality of the periorbital region	2316	FLNA	ORPHA:2484
HP:0000606	Abnormality of the periorbital region	2316	FLNA	OMIM:305620
HP:0000606	Abnormality of the periorbital region	2316	FLNA	ORPHA:1826
HP:0000606	Abnormality of the periorbital region	2316	FLNA	OMIM:309350
HP:0000606	Abnormality of the periorbital region	2316	FLNA	OMIM:311300
HP:0000606	Abnormality of the periorbital region	2316	FLNA	ORPHA:90650
HP:0000606	Abnormality of the periorbital region	2316	FLNA	ORPHA:90652
HP:0000606	Abnormality of the periorbital region	11128	POLR3A	OMIM:264090
HP:0000606	Abnormality of the periorbital region	10060	ABCC9	OMIM:619719
HP:0000606	Abnormality of the periorbital region	10060	ABCC9	ORPHA:1517
HP:0000606	Abnormality of the periorbital region	1302	COL11A2	OMIM:215150
HP:0000606	Abnormality of the periorbital region	4983	OPHN1	OMIM:300486
HP:0000606	Abnormality of the periorbital region	6872	TAF1	OMIM:300966
HP:0000606	Abnormality of the periorbital region	6872	TAF1	ORPHA:480907
HP:0000606	Abnormality of the periorbital region	81887	LAS1L	ORPHA:3459
HP:0000606	Abnormality of the periorbital region	55869	HDAC8	ORPHA:3459
HP:0000606	Abnormality of the periorbital region	57688	ZSWIM6	OMIM:617865
HP:0000606	Abnormality of the periorbital region	3764	KCNJ8	ORPHA:1517
HP:0000606	Abnormality of the periorbital region	2273	FHL1	OMIM:300280
HP:0000606	Abnormality of the periorbital region	3423	IDS	ORPHA:217093
HP:0000606	Abnormality of the periorbital region	3423	IDS	ORPHA:217085
HP:0000606	Abnormality of the periorbital region	3930	LBR	OMIM:215140
HP:0000606	Abnormality of the periorbital region	6197	RPS6KA3	OMIM:303600
HP:0000606	Abnormality of the periorbital region	5295	PIK3R1	ORPHA:3163
HP:0000606	Abnormality of the periorbital region	84295	PHF6	OMIM:301900
HP:0000606	Abnormality of the periorbital region	84295	PHF6	ORPHA:127
HP:0000606	Abnormality of the periorbital region	10484	SEC23A	ORPHA:50814
HP:0000606	Abnormality of the periorbital region	10484	SEC23A	OMIM:607812
HP:0000606	Abnormality of the periorbital region	92255	LMBRD2	OMIM:619694
HP:0000606	Abnormality of the periorbital region	57479	PRR12	OMIM:619539
HP:0000606	Abnormality of the periorbital region	2260	FGFR1	OMIM:166250
HP:0000606	Abnormality of the periorbital region	2260	FGFR1	ORPHA:3366
HP:0000606	Abnormality of the periorbital region	114034	TOE1	OMIM:614969
HP:0000606	Abnormality of the periorbital region	5308	PITX2	OMIM:180500
HP:0000606	Abnormality of the periorbital region	79791	FBXO31	OMIM:615979
HP:0000606	Abnormality of the periorbital region	2072	ERCC4	OMIM:610965
HP:0000606	Abnormality of the periorbital region	5468	PPARG	ORPHA:528
HP:0000606	Abnormality of the periorbital region	10555	AGPAT2	ORPHA:528
HP:0000606	Abnormality of the periorbital region	284119	CAVIN1	ORPHA:528
HP:0000606	Abnormality of the periorbital region	26580	BSCL2	ORPHA:528
HP:0000606	Abnormality of the periorbital region	2353	FOS	ORPHA:528
HP:0000606	Abnormality of the periorbital region	857	CAV1	ORPHA:528
HP:0000606	Abnormality of the periorbital region	158326	FREM1	ORPHA:3366
HP:0000606	Abnormality of the periorbital region	23133	PHF8	OMIM:300263
HP:0000606	Abnormality of the periorbital region	7319	UBE2A	OMIM:300860
HP:0000606	Abnormality of the periorbital region	5159	PDGFRB	OMIM:616592
HP:0000606	Abnormality of the periorbital region	164	AP1G1	OMIM:619548
HP:0000606	Abnormality of the periorbital region	3720	JARID2	OMIM:620098
HP:0000606	Abnormality of the periorbital region	121340	SP7	OMIM:613849
HP:0000606	Abnormality of the periorbital region	128178	EDARADD	OMIM:224900
HP:0000606	Abnormality of the periorbital region	128178	EDARADD	OMIM:614941
HP:0000606	Abnormality of the periorbital region	10913	EDAR	OMIM:224900
HP:0000606	Abnormality of the periorbital region	6595	SMARCA2	OMIM:601358
HP:0000606	Abnormality of the periorbital region	1896	EDA	OMIM:305100
HP:0000606	Abnormality of the periorbital region	7528	YY1	ORPHA:506358
HP:0000606	Abnormality of the periorbital region	7528	YY1	OMIM:617557
HP:0000606	Abnormality of the periorbital region	11212	PLPBP	OMIM:617290
HP:0000606	Abnormality of the periorbital region	27316	RBMX	OMIM:300238
HP:0000606	Abnormality of the periorbital region	23013	SPEN	OMIM:619312
HP:0000606	Abnormality of the periorbital region	8367	H4C5	OMIM:619950
HP:0000606	Abnormality of the periorbital region	10847	SRCAP	OMIM:619595
HP:0000606	Abnormality of the periorbital region	8363	H4C11	OMIM:619759
HP:0000606	Abnormality of the periorbital region	6228	RPS23	OMIM:617412
HP:0000606	Abnormality of the periorbital region	10785	WDR4	OMIM:618347
HP:0000606	Abnormality of the periorbital region	4897	NRCAM	OMIM:619833
HP:0000606	Abnormality of the periorbital region	85440	DOCK7	ORPHA:411986
HP:0000606	Abnormality of the periorbital region	85440	DOCK7	OMIM:615859
HP:0000606	Abnormality of the periorbital region	10586	MAB21L2	OMIM:615877
HP:0000606	Abnormality of the periorbital region	8364	H4C3	OMIM:619758
HP:0000606	Abnormality of the periorbital region	57459	GATAD2B	ORPHA:363686
HP:0000606	Abnormality of the periorbital region	7204	TRIO	OMIM:617061
HP:0000606	Abnormality of the periorbital region	4893	NRAS	OMIM:137550
HP:0000606	Abnormality of the periorbital region	3265	HRAS	OMIM:137550
HP:0000606	Abnormality of the periorbital region	5515	PPP2CA	OMIM:618354
HP:0000606	Abnormality of the periorbital region	203068	TUBB	OMIM:156610
HP:0000606	Abnormality of the periorbital region	55617	TASP1	OMIM:618950
HP:0000606	Abnormality of the periorbital region	80816	ASXL3	OMIM:615485
HP:0000606	Abnormality of the periorbital region	55904	KMT2E	OMIM:618512
HP:0000606	Abnormality of the periorbital region	29072	SETD2	OMIM:620157
HP:0000606	Abnormality of the periorbital region	29072	SETD2	OMIM:620155
HP:0000606	Abnormality of the periorbital region	5934	RBL2	OMIM:619690
HP:0000606	Abnormality of the periorbital region	80267	EDEM3	OMIM:619493
HP:0000606	Abnormality of the periorbital region	65082	VPS33A	ORPHA:505248
HP:0000606	Abnormality of the periorbital region	10020	GNE	OMIM:269921
HP:0000606	Abnormality of the periorbital region	10020	GNE	ORPHA:3166
HP:0000606	Abnormality of the periorbital region	24140	FTSJ1	OMIM:309549
HP:0000606	Abnormality of the periorbital region	7468	NSD2	OMIM:619695
HP:0000606	Abnormality of the periorbital region	9969	MED13	OMIM:618009
HP:0000606	Abnormality of the periorbital region	9757	KMT2B	OMIM:619934
HP:0000606	Abnormality of the periorbital region	7703	PCGF2	OMIM:618371
HP:0000606	Abnormality of the periorbital region	1105	CHD1	OMIM:617682
HP:0000606	Abnormality of the periorbital region	81570	CLPB	OMIM:616271
HP:0000606	Abnormality of the periorbital region	6885	MAP3K7	OMIM:157800
HP:0000606	Abnormality of the periorbital region	170302	ARX	OMIM:300419
HP:0000606	Abnormality of the periorbital region	26057	ANKRD17	OMIM:619504
HP:0000606	Abnormality of the periorbital region	56992	KIF15	ORPHA:261323
HP:0000606	Abnormality of the periorbital region	5745	PTH1R	OMIM:156400
HP:0000606	Abnormality of the periorbital region	3981	LIG4	ORPHA:235
HP:0000606	Abnormality of the periorbital region	54888	NSUN2	ORPHA:235
HP:0000606	Abnormality of the periorbital region	29957	SLC25A24	ORPHA:2095
HP:0000606	Abnormality of the periorbital region	29957	SLC25A24	OMIM:612289
HP:0000606	Abnormality of the periorbital region	8216	LZTR1	OMIM:616564
HP:0000606	Abnormality of the periorbital region	8216	LZTR1	OMIM:605275
HP:0000606	Abnormality of the periorbital region	5648	MASP1	OMIM:257920
HP:0000606	Abnormality of the periorbital region	673	BRAF	OMIM:115150
HP:0000606	Abnormality of the periorbital region	673	BRAF	ORPHA:1340
HP:0000606	Abnormality of the periorbital region	8405	SPOP	OMIM:618828
HP:0000606	Abnormality of the periorbital region	157570	ESCO2	ORPHA:3103
HP:0000606	Abnormality of the periorbital region	4758	NEU1	ORPHA:93399
HP:0000606	Abnormality of the periorbital region	4758	NEU1	ORPHA:93400
HP:0000606	Abnormality of the periorbital region	2702	GJA5	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	1482	NKX2-5	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	137814	NKX2-6	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	23414	ZFPM2	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	2626	GATA4	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	3791	KDR	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	2627	GATA6	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	2657	GDF1	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	182	JAG1	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	6899	TBX1	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	140628	GATA5	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	2324	FLT4	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	10370	CITED2	ORPHA:3303
HP:0000606	Abnormality of the periorbital region	5727	PTCH1	OMIM:610828
HP:0000606	Abnormality of the periorbital region	51715	RAB23	OMIM:201000
HP:0000606	Abnormality of the periorbital region	3832	KIF11	ORPHA:2526
HP:0000606	Abnormality of the periorbital region	8241	RBM10	ORPHA:2886
HP:0000606	Abnormality of the periorbital region	8241	RBM10	OMIM:311900
HP:0000606	Abnormality of the periorbital region	23387	SIK3	OMIM:618162
HP:0000606	Abnormality of the periorbital region	3039	HBA1	ORPHA:98791
HP:0000606	Abnormality of the periorbital region	3040	HBA2	ORPHA:98791
HP:0000606	Abnormality of the periorbital region	54496	PRMT7	OMIM:617157
HP:0000606	Abnormality of the periorbital region	9652	SKIC3	OMIM:222470
HP:0000606	Abnormality of the periorbital region	5604	MAP2K1	ORPHA:1340
HP:0000606	Abnormality of the periorbital region	5605	MAP2K2	ORPHA:1340
HP:0000606	Abnormality of the periorbital region	3845	KRAS	ORPHA:1340
HP:0000606	Abnormality of the periorbital region	129285	PPP1R21	OMIM:619383
HP:0000606	Abnormality of the periorbital region	83696	TRAPPC9	ORPHA:352530
HP:0000606	Abnormality of the periorbital region	1954	MEGF8	OMIM:614976
HP:0000606	Abnormality of the periorbital region	4654	MYOD1	OMIM:618975
HP:0000606	Abnormality of the periorbital region	6664	SOX11	OMIM:615866
HP:0000606	Abnormality of the periorbital region	55670	PEX26	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5824	PEX19	ORPHA:912
HP:0000606	Abnormality of the periorbital region	8504	PEX3	ORPHA:912
HP:0000606	Abnormality of the periorbital region	8799	PEX11B	ORPHA:912
HP:0000606	Abnormality of the periorbital region	9409	PEX16	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5190	PEX6	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5189	PEX1	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5193	PEX12	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5194	PEX13	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5195	PEX14	ORPHA:912
HP:0000606	Abnormality of the periorbital region	5192	PEX10	ORPHA:912
HP:0000606	Abnormality of the periorbital region	2690	GHR	ORPHA:633
HP:0000606	Abnormality of the periorbital region	7291	TWIST1	ORPHA:35099
HP:0000606	Abnormality of the periorbital region	2261	FGFR3	ORPHA:35099
HP:0000606	Abnormality of the periorbital region	6938	TCF12	ORPHA:35099
HP:0000606	Abnormality of the periorbital region	7545	ZIC1	ORPHA:35099
HP:0000606	Abnormality of the periorbital region	1277	COL1A1	ORPHA:287
HP:0000606	Abnormality of the periorbital region	1289	COL5A1	ORPHA:287
HP:0000606	Abnormality of the periorbital region	1290	COL5A2	ORPHA:287
HP:0000606	Abnormality of the periorbital region	1009	CDH11	ORPHA:1299
HP:0000606	Abnormality of the periorbital region	9509	ADAMTS2	OMIM:225410
HP:0000606	Abnormality of the periorbital region	2934	GSN	ORPHA:85448
HP:0000606	Abnormality of the periorbital region	8565	YARS1	OMIM:619418
HP:0000606	Abnormality of the periorbital region	9653	HS2ST1	OMIM:619194
HP:0000606	Abnormality of the periorbital region	117581	TWIST2	OMIM:227260
HP:0000606	Abnormality of the periorbital region	340665	CYP26C1	OMIM:614974
HP:0000606	Abnormality of the periorbital region	7994	KAT6A	OMIM:616268
HP:0000606	Abnormality of the periorbital region	22907	DHX30	OMIM:617804
HP:0000606	Abnormality of the periorbital region	55315	SLC29A3	ORPHA:168569
HP:0000606	Abnormality of the periorbital region	116931	MED12L	OMIM:618872
HP:0000606	Abnormality of the periorbital region	54453	RIN2	ORPHA:217335
HP:0000606	Abnormality of the periorbital region	55691	FRMD4A	OMIM:616819
HP:0000606	Abnormality of the periorbital region	55770	EXOC2	OMIM:619306
HP:0000606	Abnormality of the periorbital region	6711	SPTBN1	OMIM:619475
HP:0000606	Abnormality of the periorbital region	51371	POMP	OMIM:618048
HP:0000606	Abnormality of the periorbital region	5692	PSMB4	OMIM:617591
HP:0000606	Abnormality of the periorbital region	5698	PSMB9	OMIM:617591
HP:0000606	Abnormality of the periorbital region	9780	PIEZO1	OMIM:616843
HP:0000606	Abnormality of the periorbital region	8425	LTBP4	OMIM:613177
HP:0000606	Abnormality of the periorbital region	7132	TNFRSF1A	OMIM:142680
HP:0000606	Abnormality of the periorbital region	7132	TNFRSF1A	ORPHA:32960
HP:0000606	Abnormality of the periorbital region	6804	STX1A	ORPHA:904
HP:0000606	Abnormality of the periorbital region	7461	CLIP2	ORPHA:904
HP:0000606	Abnormality of the periorbital region	84277	DNAJC30	ORPHA:904
HP:0000606	Abnormality of the periorbital region	8468	FKBP6	ORPHA:904
HP:0000606	Abnormality of the periorbital region	5982	RFC2	ORPHA:904
HP:0000606	Abnormality of the periorbital region	2969	GTF2I	ORPHA:904
HP:0000606	Abnormality of the periorbital region	3984	LIMK1	ORPHA:904
HP:0000606	Abnormality of the periorbital region	9569	GTF2IRD1	ORPHA:904
HP:0000606	Abnormality of the periorbital region	155382	VPS37D	ORPHA:904
HP:0000606	Abnormality of the periorbital region	155368	METTL27	ORPHA:904
HP:0000606	Abnormality of the periorbital region	114049	BUD23	ORPHA:904
HP:0000606	Abnormality of the periorbital region	7458	EIF4H	ORPHA:904
HP:0000606	Abnormality of the periorbital region	84163	GTF2IRD2	ORPHA:904
HP:0000606	Abnormality of the periorbital region	9275	BCL7B	ORPHA:904
HP:0000606	Abnormality of the periorbital region	26608	TBL2	ORPHA:904
HP:0000606	Abnormality of the periorbital region	653361	NCF1	ORPHA:904
HP:0000606	Abnormality of the periorbital region	135886	TMEM270	ORPHA:904
HP:0000606	Abnormality of the periorbital region	51085	MLXIPL	ORPHA:904
HP:0000606	Abnormality of the periorbital region	9031	BAZ1B	ORPHA:904
HP:0000606	Abnormality of the periorbital region	2006	ELN	ORPHA:904
HP:0000606	Abnormality of the periorbital region	1493	CTLA4	ORPHA:900
HP:0000606	Abnormality of the periorbital region	26191	PTPN22	ORPHA:900
HP:0000606	Abnormality of the periorbital region	3115	HLA-DPB1	ORPHA:900
HP:0000606	Abnormality of the periorbital region	5657	PRTN3	ORPHA:900
HP:0000606	Abnormality of the periorbital region	3113	HLA-DPA1	ORPHA:900
HP:0000606	Abnormality of the periorbital region	2050	EPHB4	ORPHA:90186
HP:0000606	Abnormality of the periorbital region	147372	CCBE1	OMIM:235510
HP:0000606	Abnormality of the periorbital region	710	SERPING1	OMIM:106100
HP:0000606	Abnormality of the periorbital region	285362	SUMF1	OMIM:272200
HP:0000606	Abnormality of the periorbital region	4615	MYD88	ORPHA:33226
HP:0000606	Abnormality of the periorbital region	3321	IGSF3	OMIM:149700
HP:0000606	Abnormality of the periorbital region	4868	NPHS1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	23607	CD2AP	ORPHA:656
HP:0000606	Abnormality of the periorbital region	9688	NUP93	ORPHA:656
HP:0000606	Abnormality of the periorbital region	4643	MYO1E	ORPHA:656
HP:0000606	Abnormality of the periorbital region	64423	INF2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	26130	GAPVD1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	7490	WT1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	57122	NUP107	ORPHA:656
HP:0000606	Abnormality of the periorbital region	51479	ANKFY1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	54443	ANLN	ORPHA:656
HP:0000606	Abnormality of the periorbital region	5800	PTPRO	ORPHA:656
HP:0000606	Abnormality of the periorbital region	286204	CRB2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	23165	NUP205	ORPHA:656
HP:0000606	Abnormality of the periorbital region	2013	EMP2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	79023	NUP37	ORPHA:656
HP:0000606	Abnormality of the periorbital region	51196	PLCE1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	79902	NUP85	ORPHA:656
HP:0000606	Abnormality of the periorbital region	1285	COL4A3	ORPHA:656
HP:0000606	Abnormality of the periorbital region	396	ARHGDIA	ORPHA:656
HP:0000606	Abnormality of the periorbital region	79934	COQ8B	ORPHA:656
HP:0000606	Abnormality of the periorbital region	23279	NUP160	ORPHA:656
HP:0000606	Abnormality of the periorbital region	9863	MAGI2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	81	ACTN4	ORPHA:656
HP:0000606	Abnormality of the periorbital region	7225	TRPC6	ORPHA:656
HP:0000606	Abnormality of the periorbital region	8542	APOL1	ORPHA:656
HP:0000606	Abnormality of the periorbital region	54885	TBC1D8B	ORPHA:656
HP:0000606	Abnormality of the periorbital region	7827	NPHS2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	83478	ARHGAP24	ORPHA:656
HP:0000606	Abnormality of the periorbital region	23500	DAAM2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	5076	PAX2	ORPHA:656
HP:0000606	Abnormality of the periorbital region	55746	NUP133	ORPHA:656
HP:0000606	Abnormality of the periorbital region	54345	SOX18	OMIM:137940
HP:0000606	Abnormality of the periorbital region	54345	SOX18	OMIM:607823
HP:0000606	Abnormality of the periorbital region	54345	SOX18	ORPHA:69735
HP:0000606	Abnormality of the periorbital region	2290	FOXG1	ORPHA:261144
HP:0000606	Abnormality of the periorbital region	85358	SHANK3	ORPHA:48652
HP:0000606	Abnormality of the periorbital region	85358	SHANK3	OMIM:606232
HP:0000606	Abnormality of the periorbital region	7045	TGFBI	OMIM:608470
HP:0000606	Abnormality of the periorbital region	284252	KCTD1	ORPHA:2036
HP:0000606	Abnormality of the periorbital region	284252	KCTD1	OMIM:181270
HP:0000606	Abnormality of the periorbital region	9326	ZNHIT3	ORPHA:2836
HP:0000606	Abnormality of the periorbital region	547	KIF1A	ORPHA:2836
HP:0000606	Abnormality of the periorbital region	5828	PEX2	OMIM:614866
HP:0000606	Abnormality of the periorbital region	5457	POU4F1	ORPHA:314647
HP:0000606	Abnormality of the periorbital region	23261	CAMTA1	ORPHA:314647
HP:0000606	Abnormality of the periorbital region	23261	CAMTA1	OMIM:614756
HP:0000606	Abnormality of the periorbital region	5830	PEX5	OMIM:214110
HP:0000606	Abnormality of the periorbital region	83550	GPR101	ORPHA:963
HP:0000606	Abnormality of the periorbital region	9049	AIP	ORPHA:963
HP:0000606	Abnormality of the periorbital region	5293	PIK3CD	ORPHA:221139
HP:0000606	Abnormality of the periorbital region	90417	KNSTRN	ORPHA:221139
HP:0000606	Abnormality of the periorbital region	22947	DUX4L1	ORPHA:269
HP:0000606	Abnormality of the periorbital region	1789	DNMT3B	ORPHA:269
HP:0000606	Abnormality of the periorbital region	2483	FRG1	ORPHA:269
HP:0000606	Abnormality of the periorbital region	23347	SMCHD1	ORPHA:269
HP:0000606	Abnormality of the periorbital region	100288687	DUX4	ORPHA:269
HP:0000606	Abnormality of the periorbital region	71	ACTG1	ORPHA:2995
HP:0000606	Abnormality of the periorbital region	60	ACTB	ORPHA:2995
HP:0000606	Abnormality of the periorbital region	7512	XPNPEP2	ORPHA:100057
HP:0000606	Abnormality of the periorbital region	11133	KPTN	ORPHA:397612
HP:0000606	Abnormality of the periorbital region	84168	ANTXR1	ORPHA:2067
HP:0000606	Abnormality of the periorbital region	5723	PSPH	ORPHA:79350
HP:0000606	Abnormality of the periorbital region	79158	GNPTAB	OMIM:252500
HP:0000606	Abnormality of the periorbital region	57231	SNX14	ORPHA:397709
HP:0000606	Abnormality of the periorbital region	55343	SLC35C1	ORPHA:99843
HP:0000606	Abnormality of the periorbital region	4036	LRP2	OMIM:222448
HP:0000606	Abnormality of the periorbital region	1725	DHPS	OMIM:618480
HP:0000606	Abnormality of the periorbital region	16	AARS1	OMIM:619691
HP:0000606	Abnormality of the periorbital region	8260	NAA10	OMIM:300855
HP:0000606	Abnormality of the periorbital region	54517	PUS7	OMIM:618342
HP:0000606	Abnormality of the periorbital region	55699	IARS2	OMIM:616007
HP:0000606	Abnormality of the periorbital region	6659	SOX4	OMIM:618506
HP:0000606	Abnormality of the periorbital region	4190	MDH1	OMIM:618959
HP:0000606	Abnormality of the periorbital region	2263	FGFR2	OMIM:123790
HP:0000607	Periorbital wrinkles	128178	EDARADD	OMIM:224900
HP:0000607	Periorbital wrinkles	128178	EDARADD	OMIM:614941
HP:0000607	Periorbital wrinkles	10913	EDAR	OMIM:224900
HP:0000607	Periorbital wrinkles	1009	CDH11	ORPHA:1299
HP:0000607	Periorbital wrinkles	6595	SMARCA2	OMIM:601358
HP:0000607	Periorbital wrinkles	1896	EDA	OMIM:305100
HP:0010821	Focal emotional seizure with laughing	2737	GLI3	ORPHA:672
HP:0010821	Focal emotional seizure with laughing	55690	PACS1	ORPHA:329224
HP:0010821	Focal emotional seizure with laughing	26227	PHGDH	ORPHA:79351
HP:0010821	Focal emotional seizure with laughing	55768	NGLY1	ORPHA:404454
HP:0010821	Focal emotional seizure with laughing	10588	MTHFS	OMIM:618367
HP:0010821	Focal emotional seizure with laughing	2902	GRIN1	ORPHA:208447
HP:0010821	Focal emotional seizure with laughing	10991	SLC38A3	OMIM:619881
HP:0010823	Ridged cranial sutures	29998	BICRA	OMIM:619325
HP:0010825	Abnormality of the eleventh cranial nerve	22943	DKK1	ORPHA:268882
HP:0010826	Abnormality of the twelfth cranial nerve	22943	DKK1	ORPHA:268882
HP:0010827	Abnormality of the seventh cranial nerve	4359	MPZ	OMIM:618184
HP:0010827	Abnormality of the seventh cranial nerve	91574	MTRFR	ORPHA:254930
HP:0010827	Abnormality of the seventh cranial nerve	91574	MTRFR	OMIM:613559
HP:0010827	Abnormality of the seventh cranial nerve	8506	CNTNAP1	OMIM:618186
HP:0010827	Abnormality of the seventh cranial nerve	8506	CNTNAP1	OMIM:616286
HP:0010827	Abnormality of the seventh cranial nerve	112	ADCY6	OMIM:616287
HP:0010827	Abnormality of the seventh cranial nerve	2733	GLE1	OMIM:611890
HP:0010827	Abnormality of the seventh cranial nerve	1410	CRYAB	ORPHA:399058
HP:0010827	Abnormality of the seventh cranial nerve	19	ABCA1	OMIM:205400
HP:0010827	Abnormality of the seventh cranial nerve	19	ABCA1	ORPHA:31150
HP:0010827	Abnormality of the seventh cranial nerve	9997	SCO2	ORPHA:521411
HP:0010827	Abnormality of the seventh cranial nerve	9289	ADGRG1	ORPHA:98889
HP:0010827	Abnormality of the seventh cranial nerve	5297	PI4KA	ORPHA:98889
HP:0010827	Abnormality of the seventh cranial nerve	27286	SRPX2	ORPHA:98889
HP:0010827	Abnormality of the seventh cranial nerve	8803	SUCLA2	OMIM:612073
HP:0010827	Abnormality of the seventh cranial nerve	6472	SHMT2	OMIM:619121
HP:0010827	Abnormality of the seventh cranial nerve	10730	YME1L1	OMIM:617302
HP:0010827	Abnormality of the seventh cranial nerve	2218	FKTN	ORPHA:370980
HP:0010827	Abnormality of the seventh cranial nerve	729920	CRPPA	ORPHA:370980
HP:0010827	Abnormality of the seventh cranial nerve	1760	DMPK	OMIM:160900
HP:0010827	Abnormality of the seventh cranial nerve	9990	SLC12A6	OMIM:218000
HP:0010827	Abnormality of the seventh cranial nerve	4649	MYO9A	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	1103	CHAT	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	6576	SLC25A1	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	6843	VAMP1	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	127833	SYT2	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	6572	SLC18A3	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	6616	SNAP25	ORPHA:98914
HP:0010827	Abnormality of the seventh cranial nerve	84570	COL25A1	ORPHA:91411
HP:0010827	Abnormality of the seventh cranial nerve	79776	ZFHX4	ORPHA:91411
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	ORPHA:97240
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	ORPHA:171433
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	ORPHA:171430
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	OMIM:616852
HP:0010827	Abnormality of the seventh cranial nerve	58	ACTA1	OMIM:161800
HP:0010827	Abnormality of the seventh cranial nerve	50964	SOST	OMIM:269500
HP:0010827	Abnormality of the seventh cranial nerve	50964	SOST	ORPHA:3416
HP:0010827	Abnormality of the seventh cranial nerve	50964	SOST	ORPHA:3152
HP:0010827	Abnormality of the seventh cranial nerve	274	BIN1	ORPHA:169186
HP:0010827	Abnormality of the seventh cranial nerve	274	BIN1	OMIM:255200
HP:0010827	Abnormality of the seventh cranial nerve	10290	SPEG	ORPHA:169186
HP:0010827	Abnormality of the seventh cranial nerve	6261	RYR1	ORPHA:169186
HP:0010827	Abnormality of the seventh cranial nerve	6261	RYR1	OMIM:255320
HP:0010827	Abnormality of the seventh cranial nerve	6261	RYR1	ORPHA:178145
HP:0010827	Abnormality of the seventh cranial nerve	6261	RYR1	ORPHA:98905
HP:0010827	Abnormality of the seventh cranial nerve	7273	TTN	ORPHA:169186
HP:0010827	Abnormality of the seventh cranial nerve	291	SLC25A4	ORPHA:254892
HP:0010827	Abnormality of the seventh cranial nerve	291	SLC25A4	OMIM:609283
HP:0010827	Abnormality of the seventh cranial nerve	5428	POLG	ORPHA:254892
HP:0010827	Abnormality of the seventh cranial nerve	5428	POLG	OMIM:258450
HP:0010827	Abnormality of the seventh cranial nerve	5428	POLG	ORPHA:254886
HP:0010827	Abnormality of the seventh cranial nerve	5428	POLG	OMIM:157640
HP:0010827	Abnormality of the seventh cranial nerve	56652	TWNK	ORPHA:254892
HP:0010827	Abnormality of the seventh cranial nerve	11232	POLG2	ORPHA:254892
HP:0010827	Abnormality of the seventh cranial nerve	11232	POLG2	OMIM:610131
HP:0010827	Abnormality of the seventh cranial nerve	50484	RRM2B	ORPHA:254892
HP:0010827	Abnormality of the seventh cranial nerve	22827	PUF60	ORPHA:508498
HP:0010827	Abnormality of the seventh cranial nerve	55906	ZC4H2	OMIM:301041
HP:0010827	Abnormality of the seventh cranial nerve	55906	ZC4H2	OMIM:314580
HP:0010827	Abnormality of the seventh cranial nerve	2673	GFPT1	OMIM:608931
HP:0010827	Abnormality of the seventh cranial nerve	2673	GFPT1	ORPHA:353327
HP:0010827	Abnormality of the seventh cranial nerve	2673	GFPT1	OMIM:610542
HP:0010827	Abnormality of the seventh cranial nerve	1145	CHRNE	OMIM:608931
HP:0010827	Abnormality of the seventh cranial nerve	1145	CHRNE	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	1291	COL6A1	OMIM:254090
HP:0010827	Abnormality of the seventh cranial nerve	1292	COL6A2	OMIM:254090
HP:0010827	Abnormality of the seventh cranial nerve	1292	COL6A2	OMIM:255600
HP:0010827	Abnormality of the seventh cranial nerve	1293	COL6A3	OMIM:254090
HP:0010827	Abnormality of the seventh cranial nerve	1144	CHRND	OMIM:616322
HP:0010827	Abnormality of the seventh cranial nerve	1144	CHRND	OMIM:616323
HP:0010827	Abnormality of the seventh cranial nerve	1144	CHRND	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	2138	EYA1	OMIM:113650
HP:0010827	Abnormality of the seventh cranial nerve	2138	EYA1	ORPHA:107
HP:0010827	Abnormality of the seventh cranial nerve	2138	EYA1	ORPHA:52429
HP:0010827	Abnormality of the seventh cranial nerve	6495	SIX1	OMIM:113650
HP:0010827	Abnormality of the seventh cranial nerve	6495	SIX1	ORPHA:107
HP:0010827	Abnormality of the seventh cranial nerve	6495	SIX1	ORPHA:52429
HP:0010827	Abnormality of the seventh cranial nerve	56203	LMOD3	OMIM:616165
HP:0010827	Abnormality of the seventh cranial nerve	56203	LMOD3	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	56203	LMOD3	ORPHA:171430
HP:0010827	Abnormality of the seventh cranial nerve	2697	GJA1	ORPHA:1522
HP:0010827	Abnormality of the seventh cranial nerve	2697	GJA1	OMIM:218400
HP:0010827	Abnormality of the seventh cranial nerve	56172	ANKH	ORPHA:1522
HP:0010827	Abnormality of the seventh cranial nerve	56172	ANKH	OMIM:123000
HP:0010827	Abnormality of the seventh cranial nerve	4593	MUSK	OMIM:616325
HP:0010827	Abnormality of the seventh cranial nerve	4593	MUSK	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	10312	TCIRG1	OMIM:259700
HP:0010827	Abnormality of the seventh cranial nerve	1305	COL13A1	OMIM:616720
HP:0010827	Abnormality of the seventh cranial nerve	1305	COL13A1	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	23394	ADNP	OMIM:615873
HP:0010827	Abnormality of the seventh cranial nerve	400916	CHCHD10	OMIM:616209
HP:0010827	Abnormality of the seventh cranial nerve	4038	LRP4	OMIM:614305
HP:0010827	Abnormality of the seventh cranial nerve	4038	LRP4	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	4038	LRP4	ORPHA:3152
HP:0010827	Abnormality of the seventh cranial nerve	7415	VCP	OMIM:167320
HP:0010827	Abnormality of the seventh cranial nerve	1134	CHRNA1	OMIM:608930
HP:0010827	Abnormality of the seventh cranial nerve	1134	CHRNA1	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	4747	NEFL	OMIM:607684
HP:0010827	Abnormality of the seventh cranial nerve	825	CAPN3	OMIM:253600
HP:0010827	Abnormality of the seventh cranial nerve	57167	SALL4	OMIM:607323
HP:0010827	Abnormality of the seventh cranial nerve	79581	SLC52A2	OMIM:614707
HP:0010827	Abnormality of the seventh cranial nerve	10049	DNAJB6	OMIM:603511
HP:0010827	Abnormality of the seventh cranial nerve	1120	CHKB	OMIM:602541
HP:0010827	Abnormality of the seventh cranial nerve	57165	GJC2	OMIM:608804
HP:0010827	Abnormality of the seventh cranial nerve	29887	SNX10	OMIM:615085
HP:0010827	Abnormality of the seventh cranial nerve	7169	TPM2	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	7169	TPM2	ORPHA:171881
HP:0010827	Abnormality of the seventh cranial nerve	4703	NEB	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	4703	NEB	ORPHA:171433
HP:0010827	Abnormality of the seventh cranial nerve	4703	NEB	ORPHA:171430
HP:0010827	Abnormality of the seventh cranial nerve	10324	KLHL41	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	10324	KLHL41	ORPHA:171433
HP:0010827	Abnormality of the seventh cranial nerve	10324	KLHL41	ORPHA:171430
HP:0010827	Abnormality of the seventh cranial nerve	1073	CFL2	ORPHA:171436
HP:0010827	Abnormality of the seventh cranial nerve	60482	SLC5A7	OMIM:617143
HP:0010827	Abnormality of the seventh cranial nerve	7084	TK2	ORPHA:254886
HP:0010827	Abnormality of the seventh cranial nerve	92667	MGME1	OMIM:615084
HP:0010827	Abnormality of the seventh cranial nerve	7170	TPM3	ORPHA:171433
HP:0010827	Abnormality of the seventh cranial nerve	7170	TPM3	ORPHA:171881
HP:0010827	Abnormality of the seventh cranial nerve	7170	TPM3	OMIM:255310
HP:0010827	Abnormality of the seventh cranial nerve	29998	BICRA	OMIM:619325
HP:0010827	Abnormality of the seventh cranial nerve	131377	KLHL40	ORPHA:171430
HP:0010827	Abnormality of the seventh cranial nerve	131377	KLHL40	OMIM:615348
HP:0010827	Abnormality of the seventh cranial nerve	9790	BMS1	ORPHA:1114
HP:0010827	Abnormality of the seventh cranial nerve	5339	PLEC	ORPHA:1114
HP:0010827	Abnormality of the seventh cranial nerve	10054	UBA2	ORPHA:1114
HP:0010827	Abnormality of the seventh cranial nerve	3691	ITGB4	ORPHA:1114
HP:0010827	Abnormality of the seventh cranial nerve	54567	DLL4	ORPHA:1114
HP:0010827	Abnormality of the seventh cranial nerve	4041	LRP5	ORPHA:3416
HP:0010827	Abnormality of the seventh cranial nerve	4041	LRP5	ORPHA:2790
HP:0010827	Abnormality of the seventh cranial nerve	4041	LRP5	ORPHA:178377
HP:0010827	Abnormality of the seventh cranial nerve	84466	MEGF10	OMIM:614399
HP:0010827	Abnormality of the seventh cranial nerve	55636	CHD7	ORPHA:138
HP:0010827	Abnormality of the seventh cranial nerve	55636	CHD7	OMIM:214800
HP:0010827	Abnormality of the seventh cranial nerve	9723	SEMA3E	ORPHA:138
HP:0010827	Abnormality of the seventh cranial nerve	3908	LAMA2	ORPHA:258
HP:0010827	Abnormality of the seventh cranial nerve	4625	MYH7	OMIM:160500
HP:0010827	Abnormality of the seventh cranial nerve	4625	MYH7	ORPHA:437572
HP:0010827	Abnormality of the seventh cranial nerve	389827	MYMK	ORPHA:1358
HP:0010827	Abnormality of the seventh cranial nerve	389827	MYMK	OMIM:254940
HP:0010827	Abnormality of the seventh cranial nerve	101929726	MYMX	ORPHA:1358
HP:0010827	Abnormality of the seventh cranial nerve	29925	GMPPB	ORPHA:353327
HP:0010827	Abnormality of the seventh cranial nerve	29925	GMPPB	ORPHA:370968
HP:0010827	Abnormality of the seventh cranial nerve	1798	DPAGT1	ORPHA:353327
HP:0010827	Abnormality of the seventh cranial nerve	85365	ALG2	ORPHA:353327
HP:0010827	Abnormality of the seventh cranial nerve	199857	ALG14	ORPHA:353327
HP:0010827	Abnormality of the seventh cranial nerve	427	ASAH1	OMIM:159950
HP:0010827	Abnormality of the seventh cranial nerve	79147	FKRP	ORPHA:370968
HP:0010827	Abnormality of the seventh cranial nerve	79147	FKRP	OMIM:606612
HP:0010827	Abnormality of the seventh cranial nerve	29954	POMT2	ORPHA:370968
HP:0010827	Abnormality of the seventh cranial nerve	29954	POMT2	OMIM:613156
HP:0010827	Abnormality of the seventh cranial nerve	9215	LARGE1	ORPHA:370968
HP:0010827	Abnormality of the seventh cranial nerve	9215	LARGE1	OMIM:608840
HP:0010827	Abnormality of the seventh cranial nerve	10585	POMT1	ORPHA:370968
HP:0010827	Abnormality of the seventh cranial nerve	10585	POMT1	OMIM:613155
HP:0010827	Abnormality of the seventh cranial nerve	57190	SELENON	OMIM:602771
HP:0010827	Abnormality of the seventh cranial nerve	51816	ADA2	OMIM:182410
HP:0010827	Abnormality of the seventh cranial nerve	5980	REV3L	ORPHA:570
HP:0010827	Abnormality of the seventh cranial nerve	23129	PLXND1	ORPHA:570
HP:0010827	Abnormality of the seventh cranial nerve	10735	STAG2	OMIM:301022
HP:0010827	Abnormality of the seventh cranial nerve	2483	FRG1	OMIM:158900
HP:0010827	Abnormality of the seventh cranial nerve	23347	SMCHD1	OMIM:158901
HP:0010827	Abnormality of the seventh cranial nerve	8878	SQSTM1	OMIM:617158
HP:0010827	Abnormality of the seventh cranial nerve	84665	MYPN	ORPHA:171881
HP:0010827	Abnormality of the seventh cranial nerve	84665	MYPN	OMIM:617336
HP:0010827	Abnormality of the seventh cranial nerve	10381	TUBB3	OMIM:600638
HP:0010827	Abnormality of the seventh cranial nerve	22954	TRIM32	OMIM:254110
HP:0010827	Abnormality of the seventh cranial nerve	56244	BTNL2	OMIM:612387
HP:0010827	Abnormality of the seventh cranial nerve	56244	BTNL2	ORPHA:797
HP:0010827	Abnormality of the seventh cranial nerve	29967	LRP12	OMIM:164310
HP:0010827	Abnormality of the seventh cranial nerve	10020	GNE	ORPHA:602
HP:0010827	Abnormality of the seventh cranial nerve	7020	TFAP2A	OMIM:113620
HP:0010827	Abnormality of the seventh cranial nerve	51651	PTRH2	ORPHA:456312
HP:0010827	Abnormality of the seventh cranial nerve	1303	COL12A1	OMIM:616470
HP:0010827	Abnormality of the seventh cranial nerve	7317	UBA1	OMIM:301830
HP:0010827	Abnormality of the seventh cranial nerve	390594	KBTBD13	OMIM:609273
HP:0010827	Abnormality of the seventh cranial nerve	139285	AMER1	ORPHA:2780
HP:0010827	Abnormality of the seventh cranial nerve	139285	AMER1	OMIM:300373
HP:0010827	Abnormality of the seventh cranial nerve	9531	BAG3	OMIM:612954
HP:0010827	Abnormality of the seventh cranial nerve	9244	CRLF1	OMIM:272430
HP:0010827	Abnormality of the seventh cranial nerve	113278	SLC52A3	OMIM:211530
HP:0010827	Abnormality of the seventh cranial nerve	3123	HLA-DRB1	ORPHA:797
HP:0010827	Abnormality of the seventh cranial nerve	84617	TUBB6	OMIM:617732
HP:0010827	Abnormality of the seventh cranial nerve	9791	PTDSS1	ORPHA:2658
HP:0010827	Abnormality of the seventh cranial nerve	8314	BAP1	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	4771	NF2	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	4771	NF2	ORPHA:637
HP:0010827	Abnormality of the seventh cranial nerve	6598	SMARCB1	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	5155	PDGFB	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	84231	TRAF7	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	6608	SMO	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	207	AKT1	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	5290	PIK3CA	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	7015	TERT	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	51684	SUFU	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	6605	SMARCE1	ORPHA:2495
HP:0010827	Abnormality of the seventh cranial nerve	3211	HOXB1	OMIM:614744
HP:0010827	Abnormality of the seventh cranial nerve	4534	MTM1	OMIM:310400
HP:0010827	Abnormality of the seventh cranial nerve	7040	TGFB1	ORPHA:1328
HP:0010827	Abnormality of the seventh cranial nerve	8085	KMT2D	OMIM:620186
HP:0010827	Abnormality of the seventh cranial nerve	80704	SLC19A3	OMIM:607483
HP:0010827	Abnormality of the seventh cranial nerve	147912	SIX5	ORPHA:107
HP:0010827	Abnormality of the seventh cranial nerve	8898	MTMR2	OMIM:601382
HP:0010827	Abnormality of the seventh cranial nerve	1785	DNM2	OMIM:160150
HP:0010827	Abnormality of the seventh cranial nerve	64419	MTMR14	OMIM:160150
HP:0010827	Abnormality of the seventh cranial nerve	2934	GSN	ORPHA:85448
HP:0010827	Abnormality of the seventh cranial nerve	23095	KIF1B	OMIM:118210
HP:0010827	Abnormality of the seventh cranial nerve	1674	DES	OMIM:601419
HP:0010827	Abnormality of the seventh cranial nerve	8292	COLQ	ORPHA:98915
HP:0010827	Abnormality of the seventh cranial nerve	3913	LAMB2	ORPHA:98915
HP:0010827	Abnormality of the seventh cranial nerve	6444	SGCD	ORPHA:219
HP:0010827	Abnormality of the seventh cranial nerve	23516	SLC39A14	OMIM:144755
HP:0010827	Abnormality of the seventh cranial nerve	8106	PABPN1	OMIM:164300
HP:0010827	Abnormality of the seventh cranial nerve	6329	SCN4A	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	1140	CHRNB1	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	1140	CHRNB1	OMIM:616313
HP:0010827	Abnormality of the seventh cranial nerve	5913	RAPSN	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	375790	AGRN	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	221264	AK9	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	285489	DOK7	ORPHA:98913
HP:0010827	Abnormality of the seventh cranial nerve	1186	CLCN7	OMIM:166600
HP:0010827	Abnormality of the seventh cranial nerve	1186	CLCN7	OMIM:611490
HP:0010827	Abnormality of the seventh cranial nerve	1186	CLCN7	ORPHA:53
HP:0010827	Abnormality of the seventh cranial nerve	55670	PEX26	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5824	PEX19	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5828	PEX2	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	8504	PEX3	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	9409	PEX16	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5190	PEX6	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	8799	PEX11B	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5830	PEX5	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5189	PEX1	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5193	PEX12	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5194	PEX13	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5195	PEX14	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	5192	PEX10	ORPHA:772
HP:0010827	Abnormality of the seventh cranial nerve	339855	KY	OMIM:617114
HP:0010827	Abnormality of the seventh cranial nerve	84168	ANTXR1	OMIM:230740
HP:0010827	Abnormality of the seventh cranial nerve	57731	SPTBN4	OMIM:617519
HP:0010827	Abnormality of the seventh cranial nerve	64127	NOD2	ORPHA:90340
HP:0010827	Abnormality of the seventh cranial nerve	8139	GAN	ORPHA:643
HP:0010827	Abnormality of the seventh cranial nerve	8139	GAN	OMIM:256850
HP:0010827	Abnormality of the seventh cranial nerve	28962	OSTM1	OMIM:259720
HP:0010827	Abnormality of the seventh cranial nerve	79628	SH3TC2	OMIM:601596
HP:0010827	Abnormality of the seventh cranial nerve	4633	MYL2	OMIM:619424
HP:0010827	Abnormality of the seventh cranial nerve	29089	UBE2T	OMIM:616435
HP:0010827	Abnormality of the seventh cranial nerve	203859	ANO5	OMIM:611307
HP:0010827	Abnormality of the seventh cranial nerve	203859	ANO5	ORPHA:206549
HP:0010827	Abnormality of the seventh cranial nerve	1861	TOR1A	OMIM:128100
HP:0010827	Abnormality of the seventh cranial nerve	59341	TRPV4	OMIM:181405
HP:0010827	Abnormality of the seventh cranial nerve	10342	TFG	ORPHA:90117
HP:0010827	Abnormality of the seventh cranial nerve	11198	SUPT16H	OMIM:619480
HP:0010827	Abnormality of the seventh cranial nerve	7516	XRCC2	OMIM:617247
HP:0010827	Abnormality of the seventh cranial nerve	3098	HK1	OMIM:618547
HP:0010827	Abnormality of the seventh cranial nerve	23345	SYNE1	ORPHA:319332
HP:0010828	Hemifacial spasm	8314	BAP1	ORPHA:2495
HP:0010828	Hemifacial spasm	4771	NF2	ORPHA:2495
HP:0010828	Hemifacial spasm	6598	SMARCB1	ORPHA:2495
HP:0010828	Hemifacial spasm	5155	PDGFB	ORPHA:2495
HP:0010828	Hemifacial spasm	84231	TRAF7	ORPHA:2495
HP:0010828	Hemifacial spasm	6608	SMO	ORPHA:2495
HP:0010828	Hemifacial spasm	207	AKT1	ORPHA:2495
HP:0010828	Hemifacial spasm	5290	PIK3CA	ORPHA:2495
HP:0010828	Hemifacial spasm	7015	TERT	ORPHA:2495
HP:0010828	Hemifacial spasm	51684	SUFU	ORPHA:2495
HP:0010828	Hemifacial spasm	6605	SMARCE1	ORPHA:2495
HP:0010828	Hemifacial spasm	56623	INPP5E	OMIM:213300
HP:0010820	Focal emotional seizure with crying	6608	SMO	OMIM:241800
HP:0000613	Photophobia	1497	CTNS	OMIM:219800
HP:0000613	Photophobia	1497	CTNS	OMIM:219750
HP:0000613	Photophobia	1497	CTNS	ORPHA:411629
HP:0000613	Photophobia	1497	CTNS	OMIM:219900
HP:0000613	Photophobia	1497	CTNS	ORPHA:411641
HP:0000613	Photophobia	1497	CTNS	ORPHA:411634
HP:0000613	Photophobia	778	CACNA1F	OMIM:300476
HP:0000613	Photophobia	778	CACNA1F	ORPHA:1872
HP:0000613	Photophobia	1161	ERCC8	ORPHA:90324
HP:0000613	Photophobia	1161	ERCC8	ORPHA:90321
HP:0000613	Photophobia	1161	ERCC8	ORPHA:90322
HP:0000613	Photophobia	2074	ERCC6	ORPHA:90324
HP:0000613	Photophobia	2074	ERCC6	ORPHA:90321
HP:0000613	Photophobia	2074	ERCC6	ORPHA:90322
HP:0000613	Photophobia	7299	TYR	OMIM:203100
HP:0000613	Photophobia	7299	TYR	OMIM:606952
HP:0000613	Photophobia	7299	TYR	ORPHA:79431
HP:0000613	Photophobia	7299	TYR	ORPHA:79434
HP:0000613	Photophobia	4166	CHST6	ORPHA:98969
HP:0000613	Photophobia	4166	CHST6	OMIM:217800
HP:0000613	Photophobia	2780	GNAT2	OMIM:613856
HP:0000613	Photophobia	2780	GNAT2	ORPHA:1871
HP:0000613	Photophobia	2780	GNAT2	ORPHA:49382
HP:0000613	Photophobia	4047	LSS	ORPHA:2850
HP:0000613	Photophobia	197	AHSG	ORPHA:2850
HP:0000613	Photophobia	3694	ITGB6	ORPHA:2850
HP:0000613	Photophobia	5111	PCNA	OMIM:615919
HP:0000613	Photophobia	5111	PCNA	ORPHA:438134
HP:0000613	Photophobia	7045	TGFBI	ORPHA:98962
HP:0000613	Photophobia	7045	TGFBI	ORPHA:98964
HP:0000613	Photophobia	7045	TGFBI	ORPHA:98960
HP:0000613	Photophobia	7045	TGFBI	OMIM:608470
HP:0000613	Photophobia	7045	TGFBI	OMIM:602082
HP:0000613	Photophobia	2072	ERCC4	ORPHA:90321
HP:0000613	Photophobia	2072	ERCC4	ORPHA:910
HP:0000613	Photophobia	2067	ERCC1	ORPHA:90322
HP:0000613	Photophobia	6720	SREBF1	OMIM:158310
HP:0000613	Photophobia	6720	SREBF1	OMIM:619016
HP:0000613	Photophobia	54714	CNGB3	OMIM:262300
HP:0000613	Photophobia	54714	CNGB3	ORPHA:1871
HP:0000613	Photophobia	54714	CNGB3	ORPHA:49382
HP:0000613	Photophobia	162	AP1B1	OMIM:242150
HP:0000613	Photophobia	1638	DCT	OMIM:619165
HP:0000613	Photophobia	755	CFAP410	OMIM:617547
HP:0000613	Photophobia	755	CFAP410	ORPHA:1872
HP:0000613	Photophobia	26504	CNNM4	ORPHA:1873
HP:0000613	Photophobia	26504	CNNM4	OMIM:217080
HP:0000613	Photophobia	8842	PROM1	ORPHA:1872
HP:0000613	Photophobia	8842	PROM1	ORPHA:791
HP:0000613	Photophobia	22926	ATF6	ORPHA:1872
HP:0000613	Photophobia	22926	ATF6	ORPHA:49382
HP:0000613	Photophobia	22926	ATF6	OMIM:616517
HP:0000613	Photophobia	64802	NMNAT1	ORPHA:1872
HP:0000613	Photophobia	64802	NMNAT1	OMIM:608553
HP:0000613	Photophobia	84839	RAX2	ORPHA:1872
HP:0000613	Photophobia	84839	RAX2	OMIM:610381
HP:0000613	Photophobia	57096	RPGRIP1	ORPHA:1872
HP:0000613	Photophobia	57096	RPGRIP1	OMIM:608194
HP:0000613	Photophobia	57096	RPGRIP1	OMIM:613826
HP:0000613	Photophobia	24	ABCA4	ORPHA:1872
HP:0000613	Photophobia	24	ABCA4	ORPHA:791
HP:0000613	Photophobia	1261	CNGA3	ORPHA:1872
HP:0000613	Photophobia	1261	CNGA3	ORPHA:49382
HP:0000613	Photophobia	1261	CNGA3	OMIM:216900
HP:0000613	Photophobia	92211	CDHR1	ORPHA:1872
HP:0000613	Photophobia	92211	CDHR1	OMIM:613660
HP:0000613	Photophobia	92211	CDHR1	ORPHA:791
HP:0000613	Photophobia	5956	OPN1LW	ORPHA:1872
HP:0000613	Photophobia	5956	OPN1LW	OMIM:303700
HP:0000613	Photophobia	5956	OPN1LW	ORPHA:16
HP:0000613	Photophobia	5961	PRPH2	ORPHA:1872
HP:0000613	Photophobia	5961	PRPH2	ORPHA:52427
HP:0000613	Photophobia	5961	PRPH2	ORPHA:791
HP:0000613	Photophobia	5961	PRPH2	OMIM:613105
HP:0000613	Photophobia	5961	PRPH2	OMIM:169150
HP:0000613	Photophobia	5961	PRPH2	OMIM:608161
HP:0000613	Photophobia	8754	ADAM9	ORPHA:1872
HP:0000613	Photophobia	3000	GUCY2D	ORPHA:1872
HP:0000613	Photophobia	3000	GUCY2D	OMIM:204000
HP:0000613	Photophobia	3000	GUCY2D	OMIM:601777
HP:0000613	Photophobia	22999	RIMS1	ORPHA:1872
HP:0000613	Photophobia	128338	DRAM2	ORPHA:1872
HP:0000613	Photophobia	128338	DRAM2	OMIM:616502
HP:0000613	Photophobia	6103	RPGR	ORPHA:1872
HP:0000613	Photophobia	6103	RPGR	OMIM:304020
HP:0000613	Photophobia	6103	RPGR	ORPHA:49382
HP:0000613	Photophobia	6103	RPGR	ORPHA:791
HP:0000613	Photophobia	6103	RPGR	OMIM:300029
HP:0000613	Photophobia	2652	OPN1MW	ORPHA:1872
HP:0000613	Photophobia	2652	OPN1MW	OMIM:303700
HP:0000613	Photophobia	2652	OPN1MW	ORPHA:16
HP:0000613	Photophobia	1406	CRX	ORPHA:1872
HP:0000613	Photophobia	1406	CRX	ORPHA:791
HP:0000613	Photophobia	1406	CRX	OMIM:613829
HP:0000613	Photophobia	9094	UNC119	ORPHA:1872
HP:0000613	Photophobia	93589	CACNA2D4	ORPHA:1872
HP:0000613	Photophobia	93589	CACNA2D4	OMIM:610478
HP:0000613	Photophobia	2978	GUCA1A	ORPHA:1872
HP:0000613	Photophobia	2978	GUCA1A	ORPHA:1871
HP:0000613	Photophobia	2978	GUCA1A	OMIM:602093
HP:0000613	Photophobia	282809	POC1B	ORPHA:1872
HP:0000613	Photophobia	64218	SEMA4A	ORPHA:1872
HP:0000613	Photophobia	64218	SEMA4A	OMIM:610283
HP:0000613	Photophobia	64218	SEMA4A	ORPHA:791
HP:0000613	Photophobia	83394	PITPNM3	ORPHA:1872
HP:0000613	Photophobia	83394	PITPNM3	OMIM:600977
HP:0000613	Photophobia	23093	TTLL5	ORPHA:1872
HP:0000613	Photophobia	83723	TLCD3B	ORPHA:1872
HP:0000613	Photophobia	83723	TLCD3B	OMIM:619531
HP:0000613	Photophobia	157657	CFAP418	ORPHA:1872
HP:0000613	Photophobia	157657	CFAP418	OMIM:614500
HP:0000613	Photophobia	157657	CFAP418	ORPHA:791
HP:0000613	Photophobia	23746	AIPL1	ORPHA:1872
HP:0000613	Photophobia	9364	RAB28	ORPHA:1872
HP:0000613	Photophobia	5146	PDE6C	ORPHA:1871
HP:0000613	Photophobia	5146	PDE6C	OMIM:613093
HP:0000613	Photophobia	5146	PDE6C	ORPHA:49382
HP:0000613	Photophobia	224	ALDH3A2	ORPHA:816
HP:0000613	Photophobia	224	ALDH3A2	OMIM:270200
HP:0000613	Photophobia	56623	INPP5E	ORPHA:75858
HP:0000613	Photophobia	169522	KCNV2	OMIM:610356
HP:0000613	Photophobia	6507	SLC1A3	OMIM:612656
HP:0000613	Photophobia	6507	SLC1A3	ORPHA:209967
HP:0000613	Photophobia	200576	PIKFYVE	OMIM:121850
HP:0000613	Photophobia	63915	BLOC1S5	OMIM:619172
HP:0000613	Photophobia	3105	HLA-A	ORPHA:179
HP:0000613	Photophobia	4072	EPCAM	ORPHA:92050
HP:0000613	Photophobia	105371045	PERCC1	ORPHA:92050
HP:0000613	Photophobia	51360	MBTPS2	ORPHA:2273
HP:0000613	Photophobia	51360	MBTPS2	OMIM:308800
HP:0000613	Photophobia	51360	MBTPS2	OMIM:308205
HP:0000613	Photophobia	4137	MAPT	ORPHA:240071
HP:0000613	Photophobia	4137	MAPT	OMIM:601104
HP:0000613	Photophobia	283652	SLC24A5	OMIM:113750
HP:0000613	Photophobia	283652	SLC24A5	ORPHA:370097
HP:0000613	Photophobia	79797	ZNF408	OMIM:616469
HP:0000613	Photophobia	79797	ZNF408	ORPHA:791
HP:0000613	Photophobia	64834	ELOVL1	OMIM:618527
HP:0000613	Photophobia	3850	KRT3	OMIM:618767
HP:0000613	Photophobia	7840	ALMS1	OMIM:203800
HP:0000613	Photophobia	7840	ALMS1	ORPHA:64
HP:0000613	Photophobia	80326	WNT10A	OMIM:257980
HP:0000613	Photophobia	80326	WNT10A	OMIM:150400
HP:0000613	Photophobia	8546	AP3B1	OMIM:608233
HP:0000613	Photophobia	1130	LYST	ORPHA:167
HP:0000613	Photophobia	1130	LYST	OMIM:214500
HP:0000613	Photophobia	1678	TIMM8A	OMIM:304700
HP:0000613	Photophobia	1678	TIMM8A	ORPHA:52368
HP:0000613	Photophobia	1420	CRYGC	OMIM:604307
HP:0000613	Photophobia	1282	COL4A1	OMIM:180000
HP:0000613	Photophobia	4053	LTBP2	OMIM:613086
HP:0000613	Photophobia	5333	PLCD1	ORPHA:2387
HP:0000613	Photophobia	1474	CST6	OMIM:618535
HP:0000613	Photophobia	10804	GJB6	ORPHA:477
HP:0000613	Photophobia	10804	GJB6	OMIM:129500
HP:0000613	Photophobia	2706	GJB2	ORPHA:477
HP:0000613	Photophobia	2706	GJB2	OMIM:148210
HP:0000613	Photophobia	3769	KCNJ13	OMIM:614186
HP:0000613	Photophobia	5149	PDE6H	OMIM:610024
HP:0000613	Photophobia	5149	PDE6H	ORPHA:49382
HP:0000613	Photophobia	3035	HARS1	OMIM:614504
HP:0000613	Photophobia	10908	PNPLA6	OMIM:215470
HP:0000613	Photophobia	1909	EDNRA	OMIM:157300
HP:0000613	Photophobia	2099	ESR1	OMIM:157300
HP:0000613	Photophobia	7124	TNF	OMIM:157300
HP:0000613	Photophobia	6017	RLBP1	ORPHA:52427
HP:0000613	Photophobia	6017	RLBP1	ORPHA:791
HP:0000613	Photophobia	6010	RHO	ORPHA:52427
HP:0000613	Photophobia	6010	RHO	ORPHA:791
HP:0000613	Photophobia	5959	RDH5	ORPHA:52427
HP:0000613	Photophobia	3098	HK1	OMIM:617460
HP:0000613	Photophobia	79803	HPS6	OMIM:614075
HP:0000613	Photophobia	3859	KRT12	OMIM:122100
HP:0000613	Photophobia	6121	RPE65	OMIM:204100
HP:0000613	Photophobia	6121	RPE65	ORPHA:791
HP:0000613	Photophobia	6121	RPE65	ORPHA:364055
HP:0000613	Photophobia	326	AIRE	ORPHA:3453
HP:0000613	Photophobia	57192	MCOLN1	ORPHA:578
HP:0000613	Photophobia	57192	MCOLN1	OMIM:252650
HP:0000613	Photophobia	10002	NR2E3	OMIM:611131
HP:0000613	Photophobia	10002	NR2E3	ORPHA:791
HP:0000613	Photophobia	340024	SLC6A19	ORPHA:2116
HP:0000613	Photophobia	57393	CLTRN	ORPHA:2116
HP:0000613	Photophobia	83938	LRMDA	OMIM:615179
HP:0000613	Photophobia	11152	WDR45	OMIM:615179
HP:0000613	Photophobia	84168	ANTXR1	OMIM:230740
HP:0000613	Photophobia	84131	CEP78	OMIM:617236
HP:0000613	Photophobia	1634	DCN	OMIM:610048
HP:0000613	Photophobia	404672	GTF2H5	ORPHA:33364
HP:0000613	Photophobia	833	CARS1	ORPHA:33364
HP:0000613	Photophobia	2068	ERCC2	ORPHA:33364
HP:0000613	Photophobia	2068	ERCC2	ORPHA:910
HP:0000613	Photophobia	2068	ERCC2	OMIM:601675
HP:0000613	Photophobia	2068	ERCC2	OMIM:278730
HP:0000613	Photophobia	7737	RNF113A	ORPHA:33364
HP:0000613	Photophobia	136647	MPLKIP	ORPHA:33364
HP:0000613	Photophobia	6897	TARS1	ORPHA:33364
HP:0000613	Photophobia	2071	ERCC3	ORPHA:33364
HP:0000613	Photophobia	2071	ERCC3	ORPHA:910
HP:0000613	Photophobia	2961	GTF2E2	ORPHA:33364
HP:0000613	Photophobia	2303	FOXC2	ORPHA:33001
HP:0000613	Photophobia	2303	FOXC2	OMIM:153400
HP:0000613	Photophobia	64127	NOD2	ORPHA:90340
HP:0000613	Photophobia	5429	POLH	ORPHA:90342
HP:0000613	Photophobia	5429	POLH	OMIM:278750
HP:0000613	Photophobia	6314	ATXN7	ORPHA:94147
HP:0000613	Photophobia	8943	AP3D1	ORPHA:54
HP:0000613	Photophobia	8943	AP3D1	ORPHA:1000
HP:0000613	Photophobia	4935	GPR143	ORPHA:54
HP:0000613	Photophobia	4935	GPR143	OMIM:300500
HP:0000613	Photophobia	8481	OFD1	OMIM:300424
HP:0000613	Photophobia	8481	OFD1	ORPHA:791
HP:0000613	Photophobia	58495	OVOL2	OMIM:122000
HP:0000613	Photophobia	58495	OVOL2	ORPHA:98973
HP:0000613	Photophobia	2697	GJA1	ORPHA:1010
HP:0000613	Photophobia	6323	SCN1A	OMIM:609634
HP:0000613	Photophobia	4157	MC1R	ORPHA:79432
HP:0000613	Photophobia	4948	OCA2	ORPHA:79432
HP:0000613	Photophobia	6935	ZEB1	ORPHA:98973
HP:0000613	Photophobia	30813	VSX1	ORPHA:98973
HP:0000613	Photophobia	79977	GRHL2	ORPHA:98973
HP:0000613	Photophobia	1296	COL8A2	ORPHA:98973
HP:0000613	Photophobia	7507	XPA	ORPHA:910
HP:0000613	Photophobia	7508	XPC	ORPHA:910
HP:0000613	Photophobia	7508	XPC	OMIM:278720
HP:0000613	Photophobia	1643	DDB2	ORPHA:910
HP:0000613	Photophobia	1643	DDB2	OMIM:278740
HP:0000613	Photophobia	2073	ERCC5	ORPHA:910
HP:0000613	Photophobia	51151	SLC45A2	ORPHA:79435
HP:0000613	Photophobia	149233	IL23R	ORPHA:117
HP:0000613	Photophobia	6775	STAT4	ORPHA:117
HP:0000613	Photophobia	3586	IL10	ORPHA:117
HP:0000613	Photophobia	4210	MEFV	ORPHA:117
HP:0000613	Photophobia	1230	CCR1	ORPHA:117
HP:0000613	Photophobia	355	FAS	ORPHA:117
HP:0000613	Photophobia	3592	IL12A	ORPHA:117
HP:0000613	Photophobia	101928376	IL12A-AS1	ORPHA:117
HP:0000613	Photophobia	3106	HLA-B	ORPHA:117
HP:0000613	Photophobia	3106	HLA-B	ORPHA:29207
HP:0000613	Photophobia	3106	HLA-B	ORPHA:36426
HP:0000613	Photophobia	7099	TLR4	ORPHA:117
HP:0000613	Photophobia	3459	IFNGR1	ORPHA:117
HP:0000613	Photophobia	720	C4A	ORPHA:117
HP:0000613	Photophobia	337867	UBAC2	ORPHA:117
HP:0000613	Photophobia	51752	ERAP1	ORPHA:117
HP:0000613	Photophobia	8302	KLRC4	ORPHA:117
HP:0000613	Photophobia	92840	REEP6	ORPHA:791
HP:0000613	Photophobia	6094	ROM1	ORPHA:791
HP:0000613	Photophobia	7401	CLRN1	ORPHA:791
HP:0000613	Photophobia	130557	ZNF513	ORPHA:791
HP:0000613	Photophobia	582	BBS1	ORPHA:791
HP:0000613	Photophobia	23568	ARL2BP	ORPHA:791
HP:0000613	Photophobia	54806	AHI1	ORPHA:791
HP:0000613	Photophobia	6101	RP1	ORPHA:791
HP:0000613	Photophobia	3419	IDH3A	ORPHA:791
HP:0000613	Photophobia	4751	NEK2	ORPHA:791
HP:0000613	Photophobia	346007	EYS	ORPHA:791
HP:0000613	Photophobia	346007	EYS	OMIM:602772
HP:0000613	Photophobia	8100	IFT88	ORPHA:791
HP:0000613	Photophobia	23020	SNRNP200	ORPHA:791
HP:0000613	Photophobia	762	CA4	ORPHA:791
HP:0000613	Photophobia	138050	HGSNAT	ORPHA:791
HP:0000613	Photophobia	196	AHR	ORPHA:791
HP:0000613	Photophobia	3614	IMPDH1	ORPHA:791
HP:0000613	Photophobia	123016	TTC8	ORPHA:791
HP:0000613	Photophobia	123016	TTC8	OMIM:613464
HP:0000613	Photophobia	5148	PDE6G	ORPHA:791
HP:0000613	Photophobia	26160	IFT172	ORPHA:791
HP:0000613	Photophobia	26121	PRPF31	ORPHA:791
HP:0000613	Photophobia	583	BBS2	ORPHA:791
HP:0000613	Photophobia	4117	MAK	ORPHA:791
HP:0000613	Photophobia	25794	FSCN2	ORPHA:791
HP:0000613	Photophobia	375298	CERKL	ORPHA:791
HP:0000613	Photophobia	3420	IDH3B	ORPHA:791
HP:0000613	Photophobia	57670	KIAA1549	ORPHA:791
HP:0000613	Photophobia	7275	TUB	ORPHA:791
HP:0000613	Photophobia	24148	PRPF6	ORPHA:791
HP:0000613	Photophobia	23418	CRB1	ORPHA:791
HP:0000613	Photophobia	10461	MERTK	ORPHA:791
HP:0000613	Photophobia	57709	SLC7A14	ORPHA:791
HP:0000613	Photophobia	768206	PRCD	ORPHA:791
HP:0000613	Photophobia	7399	USH2A	ORPHA:791
HP:0000613	Photophobia	23370	ARHGEF18	ORPHA:791
HP:0000613	Photophobia	5949	RBP3	ORPHA:791
HP:0000613	Photophobia	6100	RP9	ORPHA:791
HP:0000613	Photophobia	9227	LRAT	ORPHA:791
HP:0000613	Photophobia	9227	LRAT	ORPHA:364055
HP:0000613	Photophobia	9227	LRAT	OMIM:613341
HP:0000613	Photophobia	84140	FAM161A	ORPHA:791
HP:0000613	Photophobia	55812	SPATA7	ORPHA:791
HP:0000613	Photophobia	55812	SPATA7	ORPHA:364055
HP:0000613	Photophobia	55624	POMGNT1	ORPHA:791
HP:0000613	Photophobia	403	ARL3	ORPHA:791
HP:0000613	Photophobia	5145	PDE6A	ORPHA:791
HP:0000613	Photophobia	10210	TOPORS	ORPHA:791
HP:0000613	Photophobia	9128	PRPF4	ORPHA:791
HP:0000613	Photophobia	145226	RDH12	ORPHA:791
HP:0000613	Photophobia	50939	IMPG2	ORPHA:791
HP:0000613	Photophobia	49855	SCAPER	ORPHA:791
HP:0000613	Photophobia	9742	IFT140	ORPHA:791
HP:0000613	Photophobia	2979	GUCA1B	ORPHA:791
HP:0000613	Photophobia	1259	CNGA1	ORPHA:791
HP:0000613	Photophobia	1258	CNGB1	ORPHA:791
HP:0000613	Photophobia	60509	AGBL5	ORPHA:791
HP:0000613	Photophobia	388939	PCARE	ORPHA:791
HP:0000613	Photophobia	7439	BEST1	ORPHA:791
HP:0000613	Photophobia	9785	DHX38	ORPHA:791
HP:0000613	Photophobia	7287	TULP1	ORPHA:791
HP:0000613	Photophobia	7287	TULP1	OMIM:613843
HP:0000613	Photophobia	5995	RGR	ORPHA:791
HP:0000613	Photophobia	9129	PRPF3	ORPHA:791
HP:0000613	Photophobia	55975	KLHL7	ORPHA:791
HP:0000613	Photophobia	3617	IMPG1	ORPHA:791
HP:0000613	Photophobia	94137	RP1L1	ORPHA:791
HP:0000613	Photophobia	5158	PDE6B	ORPHA:791
HP:0000613	Photophobia	6102	RP2	ORPHA:791
HP:0000613	Photophobia	55857	KIZ	ORPHA:791
HP:0000613	Photophobia	4901	NRL	ORPHA:791
HP:0000613	Photophobia	10594	PRPF8	ORPHA:791
HP:0000613	Photophobia	84100	ARL6	ORPHA:791
HP:0000613	Photophobia	6295	SAG	ORPHA:791
HP:0000613	Photophobia	79947	DHDDS	ORPHA:791
HP:0000613	Photophobia	8626	TP63	OMIM:604292
HP:0000613	Photophobia	8626	TP63	ORPHA:1896
HP:0000613	Photophobia	55630	SLC39A4	ORPHA:37
HP:0000613	Photophobia	167691	LCA5	ORPHA:364055
HP:0000613	Photophobia	114902	C1QTNF5	ORPHA:67042
HP:0000613	Photophobia	83552	MFRP	OMIM:611040
HP:0000613	Photophobia	22861	NLRP1	OMIM:617388
HP:0000613	Photophobia	2784	GNB3	OMIM:617024
HP:0000613	Photophobia	84816	RTN4IP1	OMIM:616732
HP:0000613	Photophobia	11190	CEP250	OMIM:618358
HP:0000613	Photophobia	611	OPN1SW	ORPHA:88629
HP:0000613	Photophobia	10320	IKZF1	ORPHA:36426
HP:0000613	Photophobia	6768	ST14	OMIM:602400
HP:0000613	Photophobia	6898	TAT	ORPHA:28378
HP:0000613	Photophobia	9445	ITM2B	OMIM:616079
HP:0000613	Photophobia	6785	ELOVL4	OMIM:614457
HP:0000613	Photophobia	2202	EFEMP1	ORPHA:75376
HP:0000613	Photophobia	3075	CFH	ORPHA:75376
HP:0000613	Photophobia	3426	CFI	ORPHA:75376
HP:0000613	Photophobia	388531	RGS9BP	ORPHA:75374
HP:0000613	Photophobia	8787	RGS9	ORPHA:75374
HP:0000613	Photophobia	100996717	NOTCH2NLC	OMIM:619473
HP:0000613	Photophobia	4070	TACSTD2	OMIM:204870
HP:0000613	Photophobia	114548	NLRP3	OMIM:148200
HP:0000613	Photophobia	3257	HPS1	OMIM:203300
HP:0000613	Photophobia	1308	COL17A1	ORPHA:293381
HP:0000613	Photophobia	1308	COL17A1	OMIM:122400
HP:0000613	Photophobia	57010	CABP4	OMIM:610427
HP:0000613	Photophobia	3123	HLA-DRB1	OMIM:181000
HP:0000613	Photophobia	5422	POLA1	OMIM:301220
HP:0000613	Photophobia	22943	DKK1	ORPHA:268882
HP:0000613	Photophobia	2990	GUSB	OMIM:253220
HP:0000613	Photophobia	10383	TUBB4B	OMIM:617879
HP:0000613	Photophobia	2581	GALC	ORPHA:206436
HP:0000613	Photophobia	5660	PSAP	ORPHA:206436
HP:0000613	Photophobia	8139	GAN	OMIM:256850
HP:0000613	Photophobia	3030	HADHA	ORPHA:5
HP:0000613	Photophobia	23155	CLCC1	OMIM:609913
HP:0000613	Photophobia	9699	RIMS2	OMIM:618970
HP:0000613	Photophobia	10939	AFG3L2	OMIM:618977
HP:0000613	Photophobia	3852	KRT5	ORPHA:79396
HP:0000613	Photophobia	3861	KRT14	ORPHA:79396
HP:0000614	Abnormal nasolacrimal system morphology	23347	SMCHD1	OMIM:603457
HP:0000614	Abnormal nasolacrimal system morphology	5077	PAX3	ORPHA:1529
HP:0000614	Abnormal nasolacrimal system morphology	23483	TGDS	OMIM:616145
HP:0000614	Abnormal nasolacrimal system morphology	55651	NHP2	OMIM:224230
HP:0000614	Abnormal nasolacrimal system morphology	55505	NOP10	OMIM:224230
HP:0000614	Abnormal nasolacrimal system morphology	1387	CREBBP	OMIM:180849
HP:0000614	Abnormal nasolacrimal system morphology	1387	CREBBP	ORPHA:353277
HP:0000614	Abnormal nasolacrimal system morphology	2033	EP300	OMIM:180849
HP:0000614	Abnormal nasolacrimal system morphology	2033	EP300	ORPHA:353284
HP:0000614	Abnormal nasolacrimal system morphology	57479	PRR12	OMIM:619539
HP:0000614	Abnormal nasolacrimal system morphology	158326	FREM1	ORPHA:2717
HP:0000614	Abnormal nasolacrimal system morphology	158326	FREM1	OMIM:248450
HP:0000614	Abnormal nasolacrimal system morphology	3166	HMX1	OMIM:612109
HP:0000614	Abnormal nasolacrimal system morphology	79650	USB1	OMIM:604173
HP:0000614	Abnormal nasolacrimal system morphology	7020	TFAP2A	OMIM:113620
HP:0000614	Abnormal nasolacrimal system morphology	7020	TFAP2A	ORPHA:1297
HP:0000614	Abnormal nasolacrimal system morphology	55553	SOX6	OMIM:618971
HP:0000614	Abnormal nasolacrimal system morphology	6872	TAF1	OMIM:300966
HP:0000614	Abnormal nasolacrimal system morphology	1954	MEGF8	OMIM:614976
HP:0000614	Abnormal nasolacrimal system morphology	9126	SMC3	OMIM:610759
HP:0000614	Abnormal nasolacrimal system morphology	51360	MBTPS2	ORPHA:2273
HP:0000614	Abnormal nasolacrimal system morphology	330	BIRC3	ORPHA:52417
HP:0000614	Abnormal nasolacrimal system morphology	10892	MALT1	ORPHA:52417
HP:0000614	Abnormal nasolacrimal system morphology	27086	FOXP1	ORPHA:52417
HP:0000614	Abnormal nasolacrimal system morphology	3492	IGH	ORPHA:52417
HP:0000614	Abnormal nasolacrimal system morphology	8915	BCL10	ORPHA:52417
HP:0000614	Abnormal nasolacrimal system morphology	3832	KIF11	ORPHA:2526
HP:0000614	Abnormal nasolacrimal system morphology	9791	PTDSS1	ORPHA:2658
HP:0000614	Abnormal nasolacrimal system morphology	7291	TWIST1	OMIM:101400
HP:0000614	Abnormal nasolacrimal system morphology	2260	FGFR1	ORPHA:2396
HP:0000614	Abnormal nasolacrimal system morphology	3845	KRAS	ORPHA:2396
HP:0000614	Abnormal nasolacrimal system morphology	5189	PEX1	ORPHA:3220
HP:0000614	Abnormal nasolacrimal system morphology	5190	PEX6	ORPHA:3220
HP:0000614	Abnormal nasolacrimal system morphology	23522	KAT6B	ORPHA:3047
HP:0000614	Abnormal nasolacrimal system morphology	54539	NDUFB11	ORPHA:2556
HP:0000614	Abnormal nasolacrimal system morphology	1349	COX7B	ORPHA:2556
HP:0000614	Abnormal nasolacrimal system morphology	3052	HCCS	ORPHA:2556
HP:0000614	Abnormal nasolacrimal system morphology	23592	LEMD3	ORPHA:166119
HP:0000614	Abnormal nasolacrimal system morphology	23314	SATB2	ORPHA:251028
HP:0000614	Abnormal nasolacrimal system morphology	54496	PRMT7	ORPHA:464288
HP:0000614	Abnormal nasolacrimal system morphology	56244	BTNL2	ORPHA:797
HP:0000614	Abnormal nasolacrimal system morphology	3123	HLA-DRB1	ORPHA:797
HP:0000614	Abnormal nasolacrimal system morphology	2255	FGF10	OMIM:620193
HP:0000614	Abnormal nasolacrimal system morphology	2255	FGF10	ORPHA:2363
HP:0000614	Abnormal nasolacrimal system morphology	2255	FGF10	OMIM:180920
HP:0000614	Abnormal nasolacrimal system morphology	2261	FGFR3	OMIM:620192
HP:0000614	Abnormal nasolacrimal system morphology	2261	FGFR3	ORPHA:2363
HP:0000614	Abnormal nasolacrimal system morphology	197131	UBR1	OMIM:243800
HP:0000614	Abnormal nasolacrimal system morphology	197131	UBR1	ORPHA:2315
HP:0000614	Abnormal nasolacrimal system morphology	8626	TP63	ORPHA:69085
HP:0000614	Abnormal nasolacrimal system morphology	8626	TP63	OMIM:129400
HP:0000614	Abnormal nasolacrimal system morphology	2263	FGFR2	OMIM:149730
HP:0000614	Abnormal nasolacrimal system morphology	2263	FGFR2	ORPHA:2363
HP:0000614	Abnormal nasolacrimal system morphology	9968	MED12	OMIM:301068
HP:0000614	Abnormal nasolacrimal system morphology	7528	YY1	ORPHA:506358
HP:0000614	Abnormal nasolacrimal system morphology	5075	PAX1	OMIM:615560
HP:0000614	Abnormal nasolacrimal system morphology	6949	TCOF1	OMIM:154500
HP:0000614	Abnormal nasolacrimal system morphology	7994	KAT6A	OMIM:616268
HP:0000614	Abnormal nasolacrimal system morphology	7994	KAT6A	ORPHA:457193
HP:0000614	Abnormal nasolacrimal system morphology	200424	TET3	OMIM:618798
HP:0000614	Abnormal nasolacrimal system morphology	5500	PPP1CB	OMIM:617506
HP:0000614	Abnormal nasolacrimal system morphology	200734	SPRED2	OMIM:619745
HP:0000614	Abnormal nasolacrimal system morphology	90417	KNSTRN	OMIM:613328
HP:0000614	Abnormal nasolacrimal system morphology	90417	KNSTRN	ORPHA:221139
HP:0000614	Abnormal nasolacrimal system morphology	5293	PIK3CD	OMIM:613328
HP:0000614	Abnormal nasolacrimal system morphology	5293	PIK3CD	ORPHA:221139
HP:0000614	Abnormal nasolacrimal system morphology	977	CD151	OMIM:609057
HP:0000614	Abnormal nasolacrimal system morphology	6663	SOX10	OMIM:613266
HP:0000614	Abnormal nasolacrimal system morphology	55012	PPP2R3C	OMIM:618419
HP:0000614	Abnormal nasolacrimal system morphology	1281	COL3A1	ORPHA:286
HP:0000614	Abnormal nasolacrimal system morphology	341640	FREM2	ORPHA:2052
HP:0000614	Abnormal nasolacrimal system morphology	80144	FRAS1	ORPHA:2052
HP:0000614	Abnormal nasolacrimal system morphology	80144	FRAS1	OMIM:219000
HP:0000614	Abnormal nasolacrimal system morphology	23426	GRIP1	ORPHA:2052
HP:0000614	Abnormal nasolacrimal system morphology	8295	TRRAP	OMIM:618454
HP:0000614	Abnormal nasolacrimal system morphology	8085	KMT2D	OMIM:620186
HP:0000614	Abnormal nasolacrimal system morphology	10804	GJB6	ORPHA:477
HP:0000614	Abnormal nasolacrimal system morphology	2706	GJB2	ORPHA:477
HP:0000614	Abnormal nasolacrimal system morphology	29957	SLC25A24	OMIM:612289
HP:0000614	Abnormal nasolacrimal system morphology	668	FOXL2	ORPHA:572333
HP:0000614	Abnormal nasolacrimal system morphology	2138	EYA1	ORPHA:107
HP:0000614	Abnormal nasolacrimal system morphology	147912	SIX5	ORPHA:107
HP:0000614	Abnormal nasolacrimal system morphology	6495	SIX1	ORPHA:107
HP:0000614	Abnormal nasolacrimal system morphology	3321	IGSF3	OMIM:149700
HP:0000614	Abnormal nasolacrimal system morphology	23137	SMC5	OMIM:620185
HP:0000616	Miosis	2074	ERCC6	OMIM:214150
HP:0000616	Miosis	5264	PHYH	ORPHA:773
HP:0000616	Miosis	5264	PHYH	OMIM:266500
HP:0000616	Miosis	5191	PEX7	ORPHA:773
HP:0000616	Miosis	5191	PEX7	OMIM:266500
HP:0000616	Miosis	100996717	NOTCH2NLC	OMIM:619473
HP:0000616	Miosis	100996717	NOTCH2NLC	OMIM:603472
HP:0000616	Miosis	55733	HHAT	ORPHA:1422
HP:0000616	Miosis	22931	RAB18	OMIM:614222
HP:0000616	Miosis	91851	CHRDL1	OMIM:309300
HP:0000616	Miosis	4990	SIX6	OMIM:212550
HP:0000616	Miosis	84876	ORAI1	ORPHA:3204
HP:0000616	Miosis	84876	ORAI1	OMIM:615883
HP:0000616	Miosis	6786	STIM1	ORPHA:3204
HP:0000616	Miosis	6786	STIM1	OMIM:185070
HP:0000616	Miosis	23268	DNMBP	OMIM:618415
HP:0000616	Miosis	1644	DDC	OMIM:608643
HP:0000616	Miosis	23095	KIF1B	OMIM:256700
HP:0000616	Miosis	2783	GNB2	OMIM:619503
HP:0000616	Miosis	84570	COL25A1	ORPHA:91411
HP:0000616	Miosis	79776	ZFHX4	ORPHA:91411
HP:0000618	Blindness	8322	FZD4	OMIM:133780
HP:0000618	Blindness	8322	FZD4	ORPHA:90050
HP:0000618	Blindness	8322	FZD4	ORPHA:91495
HP:0000618	Blindness	8322	FZD4	ORPHA:891
HP:0000618	Blindness	4041	LRP5	OMIM:133780
HP:0000618	Blindness	4041	LRP5	ORPHA:90050
HP:0000618	Blindness	4041	LRP5	OMIM:259770
HP:0000618	Blindness	4041	LRP5	OMIM:601813
HP:0000618	Blindness	4041	LRP5	ORPHA:891
HP:0000618	Blindness	1497	CTNS	OMIM:219800
HP:0000618	Blindness	26121	PRPF31	OMIM:600138
HP:0000618	Blindness	26121	PRPF31	ORPHA:791
HP:0000618	Blindness	4693	NDP	ORPHA:90050
HP:0000618	Blindness	4693	NDP	OMIM:310600
HP:0000618	Blindness	4693	NDP	ORPHA:91495
HP:0000618	Blindness	4693	NDP	ORPHA:891
HP:0000618	Blindness	4693	NDP	ORPHA:649
HP:0000618	Blindness	92840	REEP6	ORPHA:791
HP:0000618	Blindness	6094	ROM1	ORPHA:791
HP:0000618	Blindness	6017	RLBP1	ORPHA:791
HP:0000618	Blindness	7401	CLRN1	ORPHA:791
HP:0000618	Blindness	24	ABCA4	ORPHA:791
HP:0000618	Blindness	130557	ZNF513	ORPHA:791
HP:0000618	Blindness	582	BBS1	ORPHA:791
HP:0000618	Blindness	92211	CDHR1	ORPHA:791
HP:0000618	Blindness	23568	ARL2BP	ORPHA:791
HP:0000618	Blindness	6121	RPE65	ORPHA:791
HP:0000618	Blindness	6121	RPE65	OMIM:204100
HP:0000618	Blindness	54806	AHI1	ORPHA:791
HP:0000618	Blindness	6101	RP1	ORPHA:791
HP:0000618	Blindness	3419	IDH3A	ORPHA:791
HP:0000618	Blindness	4751	NEK2	ORPHA:791
HP:0000618	Blindness	346007	EYS	ORPHA:791
HP:0000618	Blindness	8100	IFT88	ORPHA:791
HP:0000618	Blindness	23020	SNRNP200	ORPHA:791
HP:0000618	Blindness	762	CA4	ORPHA:791
HP:0000618	Blindness	138050	HGSNAT	ORPHA:791
HP:0000618	Blindness	196	AHR	ORPHA:791
HP:0000618	Blindness	3614	IMPDH1	ORPHA:791
HP:0000618	Blindness	123016	TTC8	ORPHA:791
HP:0000618	Blindness	6103	RPGR	ORPHA:791
HP:0000618	Blindness	1406	CRX	ORPHA:791
HP:0000618	Blindness	1406	CRX	OMIM:120970
HP:0000618	Blindness	5148	PDE6G	ORPHA:791
HP:0000618	Blindness	26160	IFT172	ORPHA:791
HP:0000618	Blindness	583	BBS2	ORPHA:791
HP:0000618	Blindness	4117	MAK	ORPHA:791
HP:0000618	Blindness	25794	FSCN2	ORPHA:791
HP:0000618	Blindness	375298	CERKL	ORPHA:791
HP:0000618	Blindness	3420	IDH3B	ORPHA:791
HP:0000618	Blindness	57670	KIAA1549	ORPHA:791
HP:0000618	Blindness	7275	TUB	ORPHA:791
HP:0000618	Blindness	24148	PRPF6	ORPHA:791
HP:0000618	Blindness	23418	CRB1	ORPHA:791
HP:0000618	Blindness	10461	MERTK	ORPHA:791
HP:0000618	Blindness	57709	SLC7A14	ORPHA:791
HP:0000618	Blindness	768206	PRCD	ORPHA:791
HP:0000618	Blindness	7399	USH2A	ORPHA:791
HP:0000618	Blindness	23370	ARHGEF18	ORPHA:791
HP:0000618	Blindness	5949	RBP3	ORPHA:791
HP:0000618	Blindness	6010	RHO	ORPHA:791
HP:0000618	Blindness	6010	RHO	OMIM:613731
HP:0000618	Blindness	6100	RP9	ORPHA:791
HP:0000618	Blindness	10002	NR2E3	ORPHA:791
HP:0000618	Blindness	9227	LRAT	ORPHA:791
HP:0000618	Blindness	84140	FAM161A	ORPHA:791
HP:0000618	Blindness	55812	SPATA7	ORPHA:791
HP:0000618	Blindness	55624	POMGNT1	ORPHA:791
HP:0000618	Blindness	55624	POMGNT1	ORPHA:370959
HP:0000618	Blindness	79797	ZNF408	ORPHA:791
HP:0000618	Blindness	79797	ZNF408	ORPHA:891
HP:0000618	Blindness	403	ARL3	ORPHA:791
HP:0000618	Blindness	5145	PDE6A	ORPHA:791
HP:0000618	Blindness	10210	TOPORS	ORPHA:791
HP:0000618	Blindness	8842	PROM1	ORPHA:791
HP:0000618	Blindness	9128	PRPF4	ORPHA:791
HP:0000618	Blindness	145226	RDH12	ORPHA:791
HP:0000618	Blindness	50939	IMPG2	ORPHA:791
HP:0000618	Blindness	8481	OFD1	ORPHA:791
HP:0000618	Blindness	49855	SCAPER	ORPHA:791
HP:0000618	Blindness	9742	IFT140	ORPHA:791
HP:0000618	Blindness	9742	IFT140	OMIM:617781
HP:0000618	Blindness	2979	GUCA1B	ORPHA:791
HP:0000618	Blindness	1259	CNGA1	ORPHA:791
HP:0000618	Blindness	1258	CNGB1	ORPHA:791
HP:0000618	Blindness	60509	AGBL5	ORPHA:791
HP:0000618	Blindness	5961	PRPH2	ORPHA:791
HP:0000618	Blindness	388939	PCARE	ORPHA:791
HP:0000618	Blindness	7439	BEST1	ORPHA:791
HP:0000618	Blindness	7439	BEST1	OMIM:193220
HP:0000618	Blindness	9785	DHX38	ORPHA:791
HP:0000618	Blindness	7287	TULP1	ORPHA:791
HP:0000618	Blindness	5995	RGR	ORPHA:791
HP:0000618	Blindness	9129	PRPF3	ORPHA:791
HP:0000618	Blindness	55975	KLHL7	ORPHA:791
HP:0000618	Blindness	3617	IMPG1	ORPHA:791
HP:0000618	Blindness	94137	RP1L1	ORPHA:791
HP:0000618	Blindness	5158	PDE6B	ORPHA:791
HP:0000618	Blindness	6102	RP2	ORPHA:791
HP:0000618	Blindness	55857	KIZ	ORPHA:791
HP:0000618	Blindness	64218	SEMA4A	ORPHA:791
HP:0000618	Blindness	64218	SEMA4A	OMIM:610282
HP:0000618	Blindness	4901	NRL	ORPHA:791
HP:0000618	Blindness	4901	NRL	OMIM:613750
HP:0000618	Blindness	157657	CFAP418	ORPHA:791
HP:0000618	Blindness	157657	CFAP418	OMIM:617406
HP:0000618	Blindness	10594	PRPF8	ORPHA:791
HP:0000618	Blindness	84100	ARL6	ORPHA:791
HP:0000618	Blindness	6295	SAG	ORPHA:791
HP:0000618	Blindness	79947	DHDDS	ORPHA:791
HP:0000618	Blindness	54539	NDUFB11	ORPHA:2609
HP:0000618	Blindness	54539	NDUFB11	ORPHA:2556
HP:0000618	Blindness	25915	NDUFAF3	ORPHA:2609
HP:0000618	Blindness	51103	NDUFAF1	ORPHA:2609
HP:0000618	Blindness	91942	NDUFAF2	ORPHA:2609
HP:0000618	Blindness	51300	TIMMDC1	ORPHA:2609
HP:0000618	Blindness	4716	NDUFB10	ORPHA:2609
HP:0000618	Blindness	4723	NDUFV1	ORPHA:2609
HP:0000618	Blindness	4723	NDUFV1	OMIM:618225
HP:0000618	Blindness	55572	FOXRED1	ORPHA:2609
HP:0000618	Blindness	284184	NDUFAF8	ORPHA:2609
HP:0000618	Blindness	55863	TMEM126B	ORPHA:2609
HP:0000618	Blindness	4535	MT-ND1	ORPHA:2609
HP:0000618	Blindness	4537	MT-ND3	ORPHA:2609
HP:0000618	Blindness	4729	NDUFV2	ORPHA:2609
HP:0000618	Blindness	4694	NDUFA1	ORPHA:2609
HP:0000618	Blindness	4720	NDUFS2	ORPHA:2609
HP:0000618	Blindness	4724	NDUFS4	ORPHA:2609
HP:0000618	Blindness	4724	NDUFS4	OMIM:252010
HP:0000618	Blindness	4726	NDUFS6	ORPHA:2609
HP:0000618	Blindness	4728	NDUFS8	ORPHA:2609
HP:0000618	Blindness	4722	NDUFS3	ORPHA:2609
HP:0000618	Blindness	79133	NDUFAF5	ORPHA:2609
HP:0000618	Blindness	126328	NDUFA11	ORPHA:2609
HP:0000618	Blindness	4709	NDUFB3	ORPHA:2609
HP:0000618	Blindness	80224	NUBPL	ORPHA:2609
HP:0000618	Blindness	29078	NDUFAF4	ORPHA:2609
HP:0000618	Blindness	374291	NDUFS7	ORPHA:2609
HP:0000618	Blindness	4700	NDUFA6	ORPHA:2609
HP:0000618	Blindness	4536	MT-ND2	ORPHA:2609
HP:0000618	Blindness	4719	NDUFS1	ORPHA:2609
HP:0000618	Blindness	4715	NDUFB9	ORPHA:2609
HP:0000618	Blindness	341640	FREM2	ORPHA:2052
HP:0000618	Blindness	80144	FRAS1	ORPHA:2052
HP:0000618	Blindness	80144	FRAS1	OMIM:219000
HP:0000618	Blindness	23426	GRIP1	ORPHA:2052
HP:0000618	Blindness	5351	PLOD1	OMIM:225400
HP:0000618	Blindness	80207	OPA3	ORPHA:67036
HP:0000618	Blindness	2778	GNAS	OMIM:174800
HP:0000618	Blindness	51569	UFM1	OMIM:617899
HP:0000618	Blindness	10312	TCIRG1	OMIM:259700
HP:0000618	Blindness	54820	NDE1	ORPHA:2177
HP:0000618	Blindness	5309	PITX3	OMIM:610623
HP:0000618	Blindness	220202	ATOH7	ORPHA:91495
HP:0000618	Blindness	23126	POGZ	ORPHA:468678
HP:0000618	Blindness	3073	HEXA	OMIM:272800
HP:0000618	Blindness	6720	SREBF1	OMIM:158310
HP:0000618	Blindness	4552	MTRR	OMIM:236270
HP:0000618	Blindness	2581	GALC	ORPHA:206443
HP:0000618	Blindness	2581	GALC	ORPHA:206436
HP:0000618	Blindness	2581	GALC	OMIM:245200
HP:0000618	Blindness	57465	TBC1D24	OMIM:220500
HP:0000618	Blindness	478	ATP1A3	OMIM:601338
HP:0000618	Blindness	3074	HEXB	OMIM:268800
HP:0000618	Blindness	4221	MEN1	ORPHA:2965
HP:0000618	Blindness	64072	CDH23	ORPHA:2965
HP:0000618	Blindness	64072	CDH23	ORPHA:91347
HP:0000618	Blindness	9049	AIP	ORPHA:2965
HP:0000618	Blindness	9915	ARNT2	OMIM:615926
HP:0000618	Blindness	443	ASPA	ORPHA:314911
HP:0000618	Blindness	443	ASPA	OMIM:271900
HP:0000618	Blindness	2720	GLB1	ORPHA:79255
HP:0000618	Blindness	29954	POMT2	OMIM:236670
HP:0000618	Blindness	29954	POMT2	ORPHA:370959
HP:0000618	Blindness	9215	LARGE1	OMIM:236670
HP:0000618	Blindness	79147	FKRP	OMIM:236670
HP:0000618	Blindness	79147	FKRP	ORPHA:370959
HP:0000618	Blindness	10585	POMT1	OMIM:236670
HP:0000618	Blindness	10585	POMT1	ORPHA:370959
HP:0000618	Blindness	2218	FKTN	OMIM:236670
HP:0000618	Blindness	4942	OAT	ORPHA:414
HP:0000618	Blindness	4942	OAT	OMIM:258870
HP:0000618	Blindness	215	ABCD1	ORPHA:139396
HP:0000618	Blindness	215	ABCD1	OMIM:300100
HP:0000618	Blindness	22897	CEP164	OMIM:614845
HP:0000618	Blindness	5631	PRPS1	ORPHA:1187
HP:0000618	Blindness	1201	CLN3	ORPHA:228346
HP:0000618	Blindness	1201	CLN3	OMIM:204200
HP:0000618	Blindness	5190	PEX6	ORPHA:95433
HP:0000618	Blindness	9361	LONP1	ORPHA:79243
HP:0000618	Blindness	5160	PDHA1	ORPHA:79243
HP:0000618	Blindness	8398	PLA2G6	ORPHA:35069
HP:0000618	Blindness	7840	ALMS1	OMIM:203800
HP:0000618	Blindness	7840	ALMS1	ORPHA:64
HP:0000618	Blindness	546	ATRX	ORPHA:847
HP:0000618	Blindness	5428	POLG	ORPHA:726
HP:0000618	Blindness	3913	LAMB2	OMIM:609049
HP:0000618	Blindness	79583	TMEM231	ORPHA:2318
HP:0000618	Blindness	51524	TMEM138	ORPHA:2318
HP:0000618	Blindness	23090	ZNF423	ORPHA:2318
HP:0000618	Blindness	80184	CEP290	ORPHA:2318
HP:0000618	Blindness	51259	TMEM216	ORPHA:2318
HP:0000618	Blindness	57545	CC2D2A	ORPHA:2318
HP:0000618	Blindness	65062	TMEM237	ORPHA:2318
HP:0000618	Blindness	23746	AIPL1	OMIM:604393
HP:0000618	Blindness	7389	UROD	ORPHA:95159
HP:0000618	Blindness	1349	COX7B	ORPHA:2556
HP:0000618	Blindness	3052	HCCS	ORPHA:2556
HP:0000618	Blindness	4508	MT-ATP6	OMIM:551500
HP:0000618	Blindness	4508	MT-ATP6	ORPHA:644
HP:0000618	Blindness	60	ACTB	ORPHA:79107
HP:0000618	Blindness	1001	CDH3	OMIM:601553
HP:0000618	Blindness	1001	CDH3	ORPHA:1573
HP:0000618	Blindness	4547	MTTP	ORPHA:14
HP:0000618	Blindness	652	BMP4	OMIM:607932
HP:0000618	Blindness	114548	NLRP3	ORPHA:1451
HP:0000618	Blindness	5230	PGK1	ORPHA:713
HP:0000618	Blindness	4548	MTR	OMIM:250940
HP:0000618	Blindness	4763	NF1	ORPHA:97685
HP:0000618	Blindness	56244	BTNL2	ORPHA:797
HP:0000618	Blindness	3123	HLA-DRB1	ORPHA:797
HP:0000618	Blindness	28982	FLVCR1	OMIM:609033
HP:0000618	Blindness	81794	ADAMTS10	OMIM:277600
HP:0000618	Blindness	3028	HSD17B10	ORPHA:391428
HP:0000618	Blindness	23347	SMCHD1	ORPHA:2250
HP:0000618	Blindness	8260	NAA10	OMIM:309800
HP:0000618	Blindness	54880	BCOR	OMIM:309800
HP:0000618	Blindness	285440	CYP4V2	ORPHA:41751
HP:0000618	Blindness	3257	HPS1	OMIM:203300
HP:0000618	Blindness	8314	BAP1	ORPHA:2495
HP:0000618	Blindness	4771	NF2	ORPHA:2495
HP:0000618	Blindness	4771	NF2	ORPHA:637
HP:0000618	Blindness	6598	SMARCB1	ORPHA:2495
HP:0000618	Blindness	5155	PDGFB	ORPHA:2495
HP:0000618	Blindness	84231	TRAF7	ORPHA:2495
HP:0000618	Blindness	6608	SMO	ORPHA:2495
HP:0000618	Blindness	207	AKT1	ORPHA:2495
HP:0000618	Blindness	5290	PIK3CA	ORPHA:2495
HP:0000618	Blindness	7015	TERT	ORPHA:2495
HP:0000618	Blindness	51684	SUFU	ORPHA:2495
HP:0000618	Blindness	6605	SMARCE1	ORPHA:2495
HP:0000618	Blindness	1280	COL2A1	OMIM:108300
HP:0000618	Blindness	29925	GMPPB	ORPHA:370959
HP:0000618	Blindness	84197	POMK	ORPHA:370959
HP:0000618	Blindness	2200	FBN1	OMIM:608328
HP:0000618	Blindness	726	CAPN5	OMIM:193235
HP:0000618	Blindness	7078	TIMP3	OMIM:136900
HP:0000618	Blindness	7078	TIMP3	ORPHA:59181
HP:0000618	Blindness	11041	B4GAT1	OMIM:615287
HP:0000618	Blindness	2232	FDXR	ORPHA:543470
HP:0000618	Blindness	3832	KIF11	ORPHA:2526
HP:0000618	Blindness	5627	PROS1	OMIM:614514
HP:0000618	Blindness	5340	PLG	OMIM:217090
HP:0000618	Blindness	256471	MFSD8	OMIM:610951
HP:0000618	Blindness	2811	GP1BA	ORPHA:853
HP:0000618	Blindness	2812	GP1BB	ORPHA:853
HP:0000618	Blindness	3674	ITGA2B	ORPHA:853
HP:0000618	Blindness	3673	ITGA2	ORPHA:853
HP:0000618	Blindness	135228	CD109	ORPHA:853
HP:0000618	Blindness	3690	ITGB3	ORPHA:853
HP:0000618	Blindness	5296	PIK3R2	OMIM:603387
HP:0000618	Blindness	1499	CTNNB1	ORPHA:891
HP:0000618	Blindness	23554	TSPAN12	ORPHA:891
HP:0000618	Blindness	10084	PQBP1	OMIM:309500
HP:0000618	Blindness	80025	PANK2	ORPHA:216873
HP:0000618	Blindness	80025	PANK2	ORPHA:216866
HP:0000618	Blindness	5538	PPT1	OMIM:256730
HP:0000618	Blindness	6389	SDHA	ORPHA:3208
HP:0000618	Blindness	6390	SDHB	ORPHA:3208
HP:0000618	Blindness	6392	SDHD	ORPHA:3208
HP:0000618	Blindness	644096	SDHAF1	ORPHA:3208
HP:0000618	Blindness	9928	KIF14	OMIM:617914
HP:0000618	Blindness	91147	TMEM67	OMIM:610688
HP:0000618	Blindness	5660	PSAP	ORPHA:206436
HP:0000618	Blindness	2072	ERCC4	OMIM:610965
HP:0000618	Blindness	6314	ATXN7	ORPHA:94147
HP:0000618	Blindness	2776	GNAQ	ORPHA:3205
HP:0000618	Blindness	1967	EIF2B1	OMIM:603896
HP:0000618	Blindness	1186	CLCN7	ORPHA:53
HP:0000618	Blindness	148789	B3GALNT2	OMIM:615181
HP:0000618	Blindness	1387	CREBBP	OMIM:618332
HP:0000618	Blindness	57647	DHX37	OMIM:618731
HP:0000618	Blindness	80169	CTC1	OMIM:612199
HP:0000618	Blindness	3000	GUCY2D	OMIM:204000
HP:0000618	Blindness	2706	GJB2	OMIM:148210
HP:0000618	Blindness	6323	SCN1A	OMIM:609634
HP:0000618	Blindness	7390	UROS	ORPHA:79277
HP:0000618	Blindness	2623	GATA1	ORPHA:79277
HP:0000618	Blindness	4976	OPA1	OMIM:210000
HP:0000618	Blindness	2760	GM2A	OMIM:272750
HP:0000618	Blindness	8600	TNFSF11	OMIM:259710
HP:0000618	Blindness	149233	IL23R	ORPHA:117
HP:0000618	Blindness	6775	STAT4	ORPHA:117
HP:0000618	Blindness	3586	IL10	ORPHA:117
HP:0000618	Blindness	4210	MEFV	ORPHA:117
HP:0000618	Blindness	1230	CCR1	ORPHA:117
HP:0000618	Blindness	355	FAS	ORPHA:117
HP:0000618	Blindness	3592	IL12A	ORPHA:117
HP:0000618	Blindness	101928376	IL12A-AS1	ORPHA:117
HP:0000618	Blindness	3106	HLA-B	ORPHA:117
HP:0000618	Blindness	7099	TLR4	ORPHA:117
HP:0000618	Blindness	3459	IFNGR1	ORPHA:117
HP:0000618	Blindness	720	C4A	ORPHA:117
HP:0000618	Blindness	337867	UBAC2	ORPHA:117
HP:0000618	Blindness	51752	ERAP1	ORPHA:117
HP:0000618	Blindness	8302	KLRC4	ORPHA:117
HP:0000618	Blindness	471	ATIC	ORPHA:250977
HP:0000618	Blindness	471	ATIC	OMIM:608688
HP:0000618	Blindness	1757	SARDH	ORPHA:3129
HP:0000618	Blindness	286053	NSMCE2	ORPHA:436182
HP:0000618	Blindness	7518	XRCC4	ORPHA:436182
HP:0000618	Blindness	343035	RD3	OMIM:610612
HP:0000619	Impaired convergence	57167	SALL4	OMIM:607323
HP:0010830	Impaired tactile sensation	7879	RAB7A	OMIM:600882
HP:0010830	Impaired tactile sensation	10558	SPTLC1	OMIM:162400
HP:0010830	Impaired tactile sensation	10558	SPTLC1	ORPHA:36386
HP:0010830	Impaired tactile sensation	54332	GDAP1	OMIM:607706
HP:0010830	Impaired tactile sensation	54332	GDAP1	ORPHA:99948
HP:0010830	Impaired tactile sensation	51816	ADA2	OMIM:182410
HP:0010830	Impaired tactile sensation	10397	NDRG1	OMIM:601455
HP:0010830	Impaired tactile sensation	87178	PNPT1	ORPHA:101111
HP:0010830	Impaired tactile sensation	5428	POLG	OMIM:607459
HP:0010830	Impaired tactile sensation	56652	TWNK	OMIM:607459
HP:0010830	Impaired tactile sensation	55958	KLHL9	ORPHA:399081
HP:0010830	Impaired tactile sensation	4358	MPV17	OMIM:618400
HP:0010830	Impaired tactile sensation	91574	MTRFR	OMIM:615035
HP:0010830	Impaired tactile sensation	22880	MORC2	OMIM:616688
HP:0010830	Impaired tactile sensation	7415	VCP	OMIM:616687
HP:0010830	Impaired tactile sensation	50717	DCAF8	OMIM:610100
HP:0010830	Impaired tactile sensation	3035	HARS1	ORPHA:488333
HP:0010830	Impaired tactile sensation	50846	DHH	OMIM:607080
HP:0010830	Impaired tactile sensation	23064	SETX	OMIM:606002
HP:0010830	Impaired tactile sensation	6310	ATXN1	OMIM:164400
HP:0010830	Impaired tactile sensation	26580	BSCL2	OMIM:270685
HP:0010830	Impaired tactile sensation	25923	ATL3	ORPHA:36386
HP:0010830	Impaired tactile sensation	9517	SPTLC2	ORPHA:36386
HP:0010830	Impaired tactile sensation	51062	ATL1	ORPHA:36386
HP:0010830	Impaired tactile sensation	4677	NARS1	OMIM:619091
HP:0010830	Impaired tactile sensation	4677	NARS1	OMIM:619092
HP:0010830	Impaired tactile sensation	2581	GALC	ORPHA:206443
HP:0010830	Impaired tactile sensation	2581	GALC	ORPHA:206448
HP:0010830	Impaired tactile sensation	26278	SACS	ORPHA:98
HP:0010830	Impaired tactile sensation	81790	RNF170	OMIM:619686
HP:0010830	Impaired tactile sensation	80821	DDHD1	ORPHA:101008
HP:0010830	Impaired tactile sensation	6335	SCN9A	OMIM:243000
HP:0010830	Impaired tactile sensation	8218	CLTCL1	ORPHA:453510
HP:0010830	Impaired tactile sensation	23400	ATP13A2	OMIM:617225
HP:0010830	Impaired tactile sensation	64856	VWA1	OMIM:619216
HP:0010830	Impaired tactile sensation	5376	PMP22	ORPHA:90658
HP:0010830	Impaired tactile sensation	3868	KRT16	ORPHA:2199
HP:0010830	Impaired tactile sensation	3857	KRT9	ORPHA:2199
HP:0010830	Impaired tactile sensation	3848	KRT1	ORPHA:2199
HP:0010830	Impaired tactile sensation	3098	HK1	ORPHA:99953
HP:0010830	Impaired tactile sensation	25894	PLEKHG4	ORPHA:98765
HP:0010832	Abnormality of pain sensation	85446	ZFHX2	OMIM:147430
HP:0010832	Abnormality of pain sensation	4803	NGF	ORPHA:64752
HP:0010832	Abnormality of pain sensation	4803	NGF	OMIM:608654
HP:0010832	Abnormality of pain sensation	4914	NTRK1	ORPHA:64752
HP:0010832	Abnormality of pain sensation	4914	NTRK1	ORPHA:642
HP:0010832	Abnormality of pain sensation	4358	MPV17	OMIM:256810
HP:0010832	Abnormality of pain sensation	54463	RETREG1	OMIM:201300
HP:0010832	Abnormality of pain sensation	65125	WNK1	OMIM:201300
HP:0010832	Abnormality of pain sensation	6335	SCN9A	OMIM:201300
HP:0010832	Abnormality of pain sensation	6335	SCN9A	OMIM:243000
HP:0010832	Abnormality of pain sensation	547	KIF1A	OMIM:201300
HP:0010832	Abnormality of pain sensation	9759	HDAC4	OMIM:600430
HP:0010832	Abnormality of pain sensation	253738	EBF3	OMIM:617330
HP:0010832	Abnormality of pain sensation	55768	NGLY1	OMIM:615273
HP:0010832	Abnormality of pain sensation	8242	KDM5C	OMIM:300534
HP:0010832	Abnormality of pain sensation	2892	GRIA3	ORPHA:364028
HP:0010832	Abnormality of pain sensation	8218	CLTCL1	ORPHA:453510
HP:0010832	Abnormality of pain sensation	55699	IARS2	OMIM:616007
HP:0010832	Abnormality of pain sensation	7204	TRIO	OMIM:618825
HP:0010832	Abnormality of pain sensation	7204	TRIO	OMIM:617061
HP:0010832	Abnormality of pain sensation	59335	PRDM12	OMIM:616488
HP:0010832	Abnormality of pain sensation	10059	DNM1L	OMIM:614388
HP:0010832	Abnormality of pain sensation	781	CACNA2D1	OMIM:620149
HP:0010832	Abnormality of pain sensation	80036	TRPM3	OMIM:620224
HP:0010832	Abnormality of pain sensation	55775	TDP1	ORPHA:94124
HP:0010832	Abnormality of pain sensation	4204	MECP2	OMIM:300260
HP:0010832	Abnormality of pain sensation	80821	DDHD1	ORPHA:101008
HP:0010832	Abnormality of pain sensation	219854	TMEM218	OMIM:619562
HP:0010832	Abnormality of pain sensation	11280	SCN11A	OMIM:615548
HP:0010832	Abnormality of pain sensation	10522	DEAF1	OMIM:615828
HP:0010832	Abnormality of pain sensation	10558	SPTLC1	ORPHA:36386
HP:0010832	Abnormality of pain sensation	25923	ATL3	ORPHA:36386
HP:0010832	Abnormality of pain sensation	9517	SPTLC2	ORPHA:36386
HP:0010832	Abnormality of pain sensation	51062	ATL1	ORPHA:36386
HP:0010832	Abnormality of pain sensation	9131	AIFM1	ORPHA:101078
HP:0010832	Abnormality of pain sensation	87178	PNPT1	ORPHA:101111
HP:0010832	Abnormality of pain sensation	87178	PNPT1	OMIM:608703
HP:0010832	Abnormality of pain sensation	8518	ELP1	ORPHA:1764
HP:0010832	Abnormality of pain sensation	22948	CCT5	ORPHA:139578
HP:0010832	Abnormality of pain sensation	7415	VCP	ORPHA:435387
HP:0010832	Abnormality of pain sensation	4010	LMX1B	ORPHA:2614
HP:0010832	Abnormality of pain sensation	19	ABCA1	OMIM:205400
HP:0010832	Abnormality of pain sensation	5165	PDK3	OMIM:300905
HP:0010832	Abnormality of pain sensation	4747	NEFL	OMIM:607684
HP:0010832	Abnormality of pain sensation	4747	NEFL	ORPHA:101085
HP:0010832	Abnormality of pain sensation	85358	SHANK3	OMIM:606232
HP:0010832	Abnormality of pain sensation	85358	SHANK3	ORPHA:48652
HP:0010832	Abnormality of pain sensation	2705	GJB1	ORPHA:101075
HP:0010832	Abnormality of pain sensation	7681	MKRN3	OMIM:176270
HP:0010832	Abnormality of pain sensation	3653	IPW	OMIM:176270
HP:0010832	Abnormality of pain sensation	54551	MAGEL2	OMIM:176270
HP:0010832	Abnormality of pain sensation	791114	PWRN1	OMIM:176270
HP:0010832	Abnormality of pain sensation	100033413	SNORD116-1	OMIM:176270
HP:0010832	Abnormality of pain sensation	8924	HERC2	OMIM:176270
HP:0010832	Abnormality of pain sensation	145624	PWAR1	OMIM:176270
HP:0010832	Abnormality of pain sensation	23742	NPAP1	OMIM:176270
HP:0010832	Abnormality of pain sensation	338433	SNORD115-1	OMIM:176270
HP:0010832	Abnormality of pain sensation	7343	UBTF	ORPHA:500180
HP:0010832	Abnormality of pain sensation	3190	HNRNPK	ORPHA:453504
HP:0010832	Abnormality of pain sensation	3190	HNRNPK	ORPHA:352665
HP:0010832	Abnormality of pain sensation	9839	ZEB2	ORPHA:261537
HP:0010832	Abnormality of pain sensation	9839	ZEB2	ORPHA:261552
HP:0010832	Abnormality of pain sensation	5631	PRPS1	ORPHA:99014
HP:0010832	Abnormality of pain sensation	6792	CDKL5	ORPHA:3095
HP:0010832	Abnormality of pain sensation	6792	CDKL5	ORPHA:505652
HP:0010832	Abnormality of pain sensation	22854	NTNG1	ORPHA:3095
HP:0010832	Abnormality of pain sensation	9568	GABBR2	ORPHA:3095
HP:0010832	Abnormality of pain sensation	8243	SMC1A	ORPHA:3095
HP:0010832	Abnormality of pain sensation	8567	MADD	OMIM:619004
HP:0010832	Abnormality of pain sensation	8567	MADD	OMIM:619005
HP:0010832	Abnormality of pain sensation	5375	PMP2	OMIM:618279
HP:0010832	Abnormality of pain sensation	8566	PDXK	OMIM:618511
HP:0010832	Abnormality of pain sensation	283489	CHAMP1	OMIM:616579
HP:0010832	Abnormality of pain sensation	6652	SORD	OMIM:618912
HP:0010832	Abnormality of pain sensation	3035	HARS1	ORPHA:488333
HP:0010832	Abnormality of pain sensation	2314	FLII	ORPHA:819
HP:0010832	Abnormality of pain sensation	23096	IQSEC2	ORPHA:819
HP:0010832	Abnormality of pain sensation	10743	RAI1	ORPHA:819
HP:0010832	Abnormality of pain sensation	10743	RAI1	OMIM:182290
HP:0010832	Abnormality of pain sensation	3481	IGF2	ORPHA:2128
HP:0010832	Abnormality of pain sensation	10984	KCNQ1OT1	ORPHA:2128
HP:0010832	Abnormality of pain sensation	283120	H19	ORPHA:2128
HP:0010832	Abnormality of pain sensation	54332	GDAP1	OMIM:607706
HP:0010832	Abnormality of pain sensation	54332	GDAP1	ORPHA:101097
HP:0010832	Abnormality of pain sensation	54332	GDAP1	ORPHA:99948
HP:0010832	Abnormality of pain sensation	8888	MCM3AP	OMIM:618124
HP:0010832	Abnormality of pain sensation	182	JAG1	OMIM:619574
HP:0010832	Abnormality of pain sensation	3977	LIFR	ORPHA:3206
HP:0010832	Abnormality of pain sensation	3977	LIFR	OMIM:601559
HP:0010832	Abnormality of pain sensation	2200	FBN1	ORPHA:2833
HP:0010832	Abnormality of pain sensation	3098	HK1	ORPHA:99953
HP:0010832	Abnormality of pain sensation	59345	GNB4	OMIM:615185
HP:0010832	Abnormality of pain sensation	79628	SH3TC2	ORPHA:99949
HP:0010832	Abnormality of pain sensation	57410	SCYL1	OMIM:616719
HP:0010832	Abnormality of pain sensation	9927	MFN2	ORPHA:99947
HP:0010832	Abnormality of pain sensation	3315	HSPB1	ORPHA:99940
HP:0010832	Abnormality of pain sensation	6310	ATXN1	OMIM:164400
HP:0010832	Abnormality of pain sensation	4359	MPZ	ORPHA:3115
HP:0010832	Abnormality of pain sensation	4221	MEN1	ORPHA:97279
HP:0010832	Abnormality of pain sensation	7528	YY1	ORPHA:97279
HP:0010832	Abnormality of pain sensation	8831	SYNGAP1	ORPHA:544254
HP:0010832	Abnormality of pain sensation	84188	FAR1	ORPHA:447753
HP:0010832	Abnormality of pain sensation	5832	ALDH18A1	ORPHA:447753
HP:0010832	Abnormality of pain sensation	773	CACNA1A	ORPHA:569
HP:0010832	Abnormality of pain sensation	112476	PRRT2	ORPHA:569
HP:0010832	Abnormality of pain sensation	6323	SCN1A	ORPHA:569
HP:0010832	Abnormality of pain sensation	477	ATP1A2	ORPHA:569
HP:0010832	Abnormality of pain sensation	5376	PMP22	ORPHA:101081
HP:0010832	Abnormality of pain sensation	5621	PRNP	ORPHA:356
HP:0010832	Abnormality of pain sensation	6389	SDHA	OMIM:619259
HP:0010832	Abnormality of pain sensation	6336	SCN10A	OMIM:615551
HP:0010832	Abnormality of pain sensation	114548	NLRP3	ORPHA:47045
HP:0010832	Abnormality of pain sensation	84504	NKX6-2	ORPHA:527497
HP:0010832	Abnormality of pain sensation	215	ABCD1	ORPHA:139399
HP:0010832	Abnormality of pain sensation	113189	CHST14	ORPHA:2953
HP:0010832	Abnormality of pain sensation	113189	CHST14	OMIM:601776
HP:0010832	Abnormality of pain sensation	29940	DSE	ORPHA:2953
HP:0010832	Abnormality of pain sensation	22943	DKK1	ORPHA:268882
HP:0010832	Abnormality of pain sensation	8659	ALDH4A1	ORPHA:79101
HP:0010832	Abnormality of pain sensation	27286	SRPX2	ORPHA:1945
HP:0010832	Abnormality of pain sensation	2903	GRIN2A	ORPHA:1945
HP:0010832	Abnormality of pain sensation	2566	GABRG2	ORPHA:1945
HP:0010832	Abnormality of pain sensation	2332	FMR1	ORPHA:93256
HP:0010832	Abnormality of pain sensation	65998	ZFTA	ORPHA:251636
HP:0010832	Abnormality of pain sensation	5970	RELA	ORPHA:251636
HP:0010832	Abnormality of pain sensation	9409	PEX16	OMIM:614877
HP:0010833	Spontaneous pain sensation	773	CACNA1A	ORPHA:569
HP:0010833	Spontaneous pain sensation	112476	PRRT2	ORPHA:569
HP:0010833	Spontaneous pain sensation	6323	SCN1A	ORPHA:569
HP:0010833	Spontaneous pain sensation	477	ATP1A2	ORPHA:569
HP:0010833	Spontaneous pain sensation	5376	PMP22	ORPHA:101081
HP:0010834	Trophic changes related to pain	4914	NTRK1	ORPHA:642
HP:0010834	Trophic changes related to pain	10558	SPTLC1	ORPHA:36386
HP:0010834	Trophic changes related to pain	25923	ATL3	ORPHA:36386
HP:0010834	Trophic changes related to pain	9517	SPTLC2	ORPHA:36386
HP:0010834	Trophic changes related to pain	51062	ATL1	ORPHA:36386
HP:0010835	Dissociated sensory loss	773	CACNA1A	ORPHA:569
HP:0010835	Dissociated sensory loss	112476	PRRT2	ORPHA:569
HP:0010835	Dissociated sensory loss	6323	SCN1A	ORPHA:569
HP:0010835	Dissociated sensory loss	477	ATP1A2	ORPHA:569
HP:0010836	Abnormal circulating copper concentration	9997	SCO2	ORPHA:521411
HP:0010836	Abnormal circulating copper concentration	2495	FTH1	OMIM:615517
HP:0010836	Abnormal circulating copper concentration	23545	ATP6V0A2	ORPHA:2834
HP:0010836	Abnormal circulating copper concentration	540	ATP7B	OMIM:277900
HP:0010836	Abnormal circulating copper concentration	1356	CP	ORPHA:48818
HP:0010836	Abnormal circulating copper concentration	164656	TMPRSS6	ORPHA:209981
HP:0010836	Abnormal circulating copper concentration	22796	COG2	ORPHA:435934
HP:0010836	Abnormal circulating copper concentration	22796	COG2	OMIM:617395
HP:0010836	Abnormal circulating copper concentration	538	ATP7A	OMIM:304150
HP:0010836	Abnormal circulating copper concentration	162	AP1B1	ORPHA:171851
HP:0010836	Abnormal circulating copper concentration	162	AP1B1	OMIM:242150
HP:0010836	Abnormal circulating copper concentration	1174	AP1S1	ORPHA:171851
HP:0010836	Abnormal circulating copper concentration	537	ATP6AP1	OMIM:300972
HP:0010836	Abnormal circulating copper concentration	9197	SLC33A1	OMIM:614482
HP:0010837	Decreased circulating ceruloplasmin concentration	1356	CP	ORPHA:48818
HP:0010837	Decreased circulating ceruloplasmin concentration	538	ATP7A	OMIM:309400
HP:0010837	Decreased circulating ceruloplasmin concentration	538	ATP7A	OMIM:304150
HP:0010837	Decreased circulating ceruloplasmin concentration	22796	COG2	ORPHA:435934
HP:0010837	Decreased circulating ceruloplasmin concentration	22796	COG2	OMIM:617395
HP:0010837	Decreased circulating ceruloplasmin concentration	147007	TMEM199	OMIM:616829
HP:0010837	Decreased circulating ceruloplasmin concentration	84317	CCDC115	OMIM:616828
HP:0010837	Decreased circulating ceruloplasmin concentration	540	ATP7B	OMIM:277900
HP:0010837	Decreased circulating ceruloplasmin concentration	162	AP1B1	ORPHA:171851
HP:0010837	Decreased circulating ceruloplasmin concentration	162	AP1B1	OMIM:242150
HP:0010837	Decreased circulating ceruloplasmin concentration	1174	AP1S1	ORPHA:171851
HP:0010837	Decreased circulating ceruloplasmin concentration	9197	SLC33A1	OMIM:614482
HP:0010838	High nonceruloplasmin-bound serum copper	23545	ATP6V0A2	ORPHA:2834
HP:0010838	High nonceruloplasmin-bound serum copper	540	ATP7B	OMIM:277900
HP:0010839	Increased urinary copper concentration	540	ATP7B	OMIM:277900
HP:0010831	Impaired proprioception	9897	WASHC5	OMIM:603563
HP:0010831	Impaired proprioception	9897	WASHC5	ORPHA:100989
HP:0010831	Impaired proprioception	23769	FLRT1	ORPHA:320406
HP:0010831	Impaired proprioception	64837	KLC2	ORPHA:320406
HP:0010831	Impaired proprioception	340075	ARSI	ORPHA:401815
HP:0010831	Impaired proprioception	9197	SLC33A1	ORPHA:171863
HP:0010831	Impaired proprioception	3094	HINT1	ORPHA:324442
HP:0010831	Impaired proprioception	2643	GCH1	ORPHA:98808
HP:0010831	Impaired proprioception	4929	NR4A2	ORPHA:98808
HP:0010831	Impaired proprioception	3615	IMPDH2	ORPHA:98808
HP:0010831	Impaired proprioception	57704	GBA2	ORPHA:352641
HP:0010831	Impaired proprioception	57704	GBA2	OMIM:614409
HP:0010831	Impaired proprioception	4508	MT-ATP6	ORPHA:320360
HP:0010831	Impaired proprioception	11160	ERLIN2	ORPHA:209951
HP:0010831	Impaired proprioception	6687	SPG7	ORPHA:99013
HP:0010831	Impaired proprioception	6687	SPG7	OMIM:607259
HP:0010831	Impaired proprioception	123606	NIPA1	OMIM:600363
HP:0010831	Impaired proprioception	55958	KLHL9	ORPHA:399081
HP:0010831	Impaired proprioception	6253	RTN2	OMIM:604805
HP:0010831	Impaired proprioception	6253	RTN2	ORPHA:100993
HP:0010831	Impaired proprioception	5165	PDK3	ORPHA:352675
HP:0010831	Impaired proprioception	3035	HARS1	ORPHA:488333
HP:0010831	Impaired proprioception	26278	SACS	OMIM:270550
HP:0010831	Impaired proprioception	80208	SPG11	OMIM:604360
HP:0010831	Impaired proprioception	219285	SAMD9L	OMIM:159550
HP:0010831	Impaired proprioception	28982	FLVCR1	ORPHA:88628
HP:0010831	Impaired proprioception	28982	FLVCR1	OMIM:609033
HP:0010831	Impaired proprioception	3329	HSPD1	OMIM:605280
HP:0010831	Impaired proprioception	3329	HSPD1	ORPHA:100994
HP:0010831	Impaired proprioception	9997	SCO2	ORPHA:521411
HP:0010831	Impaired proprioception	6683	SPAST	OMIM:182601
HP:0010831	Impaired proprioception	51062	ATL1	OMIM:182600
HP:0010831	Impaired proprioception	5190	PEX6	ORPHA:95433
HP:0010831	Impaired proprioception	6843	VAMP1	ORPHA:251282
HP:0010831	Impaired proprioception	84188	FAR1	ORPHA:447753
HP:0010831	Impaired proprioception	5832	ALDH18A1	ORPHA:447753
HP:0010831	Impaired proprioception	51271	UBAP1	ORPHA:100993
HP:0010831	Impaired proprioception	126129	CPT1C	ORPHA:444099
HP:0010831	Impaired proprioception	57599	WDR48	ORPHA:401800
HP:0010831	Impaired proprioception	3839	KPNA3	ORPHA:171612
HP:0010831	Impaired proprioception	9517	SPTLC2	OMIM:613640
HP:0010831	Impaired proprioception	51308	REEP2	OMIM:615625
HP:0010831	Impaired proprioception	5376	PMP22	ORPHA:90658
HP:0010831	Impaired proprioception	3798	KIF5A	OMIM:604187
HP:0010831	Impaired proprioception	23646	PLD3	OMIM:617770
HP:0010831	Impaired proprioception	80207	OPA3	ORPHA:67036
HP:0010831	Impaired proprioception	64207	IRF2BPL	OMIM:618088
HP:0010831	Impaired proprioception	5457	POU4F1	ORPHA:314647
HP:0010831	Impaired proprioception	23261	CAMTA1	ORPHA:314647
HP:0010831	Impaired proprioception	5293	PIK3CD	ORPHA:221139
HP:0010831	Impaired proprioception	90417	KNSTRN	ORPHA:221139
HP:0010831	Impaired proprioception	7276	TTR	OMIM:105210
HP:0010831	Impaired proprioception	8566	PDXK	OMIM:618511
HP:0010831	Impaired proprioception	246243	RNASEH1	OMIM:616479
HP:0010831	Impaired proprioception	5981	RFC1	OMIM:614575
HP:0010831	Impaired proprioception	9750	RIPOR2	OMIM:616515
HP:0010831	Impaired proprioception	7274	TTPA	OMIM:277460
HP:0010831	Impaired proprioception	6908	TBP	OMIM:607136
HP:0010831	Impaired proprioception	9516	LITAF	OMIM:601098
HP:0010831	Impaired proprioception	51128	SAR1B	OMIM:246700
HP:0010831	Impaired proprioception	4287	ATXN3	OMIM:109150
HP:0010831	Impaired proprioception	23345	SYNE1	ORPHA:88644
HP:0010831	Impaired proprioception	59335	PRDM12	OMIM:616488
HP:0010831	Impaired proprioception	4744	NEFH	OMIM:616924
HP:0010831	Impaired proprioception	2617	GARS1	ORPHA:139536
HP:0010831	Impaired proprioception	65055	REEP1	ORPHA:139536
HP:0010831	Impaired proprioception	4803	NGF	OMIM:608654
HP:0010831	Impaired proprioception	7345	UCHL1	OMIM:620221
HP:0010831	Impaired proprioception	7345	UCHL1	OMIM:615491
HP:0010831	Impaired proprioception	25894	PLEKHG4	ORPHA:98765
HP:0010831	Impaired proprioception	724066	ATXN8	ORPHA:98760
HP:0010831	Impaired proprioception	6315	ATXN8OS	ORPHA:98760
HP:0010831	Impaired proprioception	81790	RNF170	OMIM:619686
HP:0010831	Impaired proprioception	4669	NAGLU	OMIM:616491
HP:0010831	Impaired proprioception	6311	ATXN2	OMIM:183090
HP:0010831	Impaired proprioception	10528	NOP56	OMIM:614153
HP:0010831	Impaired proprioception	6652	SORD	OMIM:618912
HP:0010831	Impaired proprioception	5192	PEX10	OMIM:614871
HP:0010831	Impaired proprioception	23400	ATP13A2	OMIM:617225
HP:0010831	Impaired proprioception	2259	FGF14	OMIM:193003
HP:0010831	Impaired proprioception	146227	BEAN1	ORPHA:217012
HP:0010831	Impaired proprioception	10166	SLC25A15	ORPHA:415
HP:0010831	Impaired proprioception	10166	SLC25A15	OMIM:238970
HP:0010831	Impaired proprioception	1200	TPP1	ORPHA:284324
HP:0010831	Impaired proprioception	1200	TPP1	OMIM:609270
HP:0010831	Impaired proprioception	137492	VPS37A	ORPHA:319199
HP:0010831	Impaired proprioception	137492	VPS37A	OMIM:614898
HP:0010831	Impaired proprioception	11284	PNKP	OMIM:616267
HP:0010831	Impaired proprioception	2395	FXN	OMIM:229300
HP:0010831	Impaired proprioception	9692	PRORP	OMIM:619737
HP:0010831	Impaired proprioception	4099	MAG	ORPHA:459056
HP:0010831	Impaired proprioception	4556	MT-TE	ORPHA:2596
HP:0010831	Impaired proprioception	5351	PLOD1	ORPHA:1900
HP:0010831	Impaired proprioception	3098	HK1	ORPHA:99953
HP:0010831	Impaired proprioception	23111	SPART	ORPHA:101000
HP:0010831	Impaired proprioception	6712	SPTBN2	OMIM:600224
HP:0010831	Impaired proprioception	59345	GNB4	OMIM:615185
HP:0010831	Impaired proprioception	5297	PI4KA	OMIM:619621
HP:0010831	Impaired proprioception	23503	ZFYVE26	ORPHA:100996
HP:0010831	Impaired proprioception	2583	B4GALNT1	OMIM:609195
HP:0010831	Impaired proprioception	23230	VPS13A	ORPHA:2388
HP:0010831	Impaired proprioception	2065	ERBB3	OMIM:243180
HP:0010831	Impaired proprioception	6342	SCP2	OMIM:613724
HP:0010831	Impaired proprioception	4747	NEFL	ORPHA:101085
HP:0010831	Impaired proprioception	9927	MFN2	ORPHA:99947
HP:0010831	Impaired proprioception	6310	ATXN1	OMIM:164400
HP:0010831	Impaired proprioception	4359	MPZ	ORPHA:3115
HP:0010831	Impaired proprioception	10456	HAX1	OMIM:610738
HP:0010831	Impaired proprioception	10558	SPTLC1	OMIM:162400
HP:0010831	Impaired proprioception	4547	MTTP	ORPHA:14
HP:0010831	Impaired proprioception	9420	CYP7B1	OMIM:270800
HP:0010831	Impaired proprioception	5428	POLG	OMIM:157640
HP:0010831	Impaired proprioception	5428	POLG	OMIM:607459
HP:0010831	Impaired proprioception	5428	POLG	OMIM:258450
HP:0010831	Impaired proprioception	5428	POLG	ORPHA:70595
HP:0010831	Impaired proprioception	10397	NDRG1	OMIM:601455
HP:0010831	Impaired proprioception	56652	TWNK	OMIM:607459
HP:0010831	Impaired proprioception	56652	TWNK	ORPHA:70595
HP:0010831	Impaired proprioception	55703	POLR3B	OMIM:619742
HP:0010831	Impaired proprioception	547	KIF1A	OMIM:614213
HP:0010831	Impaired proprioception	22880	MORC2	OMIM:616688
HP:0010831	Impaired proprioception	7515	XRCC1	OMIM:617633
HP:0010831	Impaired proprioception	55775	TDP1	OMIM:607250
HP:0010831	Impaired proprioception	55775	TDP1	ORPHA:94124
HP:0010831	Impaired proprioception	54332	GDAP1	ORPHA:99948
HP:0010831	Impaired proprioception	54332	GDAP1	ORPHA:101097
HP:0010831	Impaired proprioception	55157	DARS2	ORPHA:137898
HP:0010831	Impaired proprioception	5173	PDYN	OMIM:610245
HP:0010831	Impaired proprioception	26580	BSCL2	OMIM:270685
HP:0010831	Impaired proprioception	11128	POLR3A	ORPHA:447896
HP:0010831	Impaired proprioception	91574	MTRFR	OMIM:615035
HP:0010831	Impaired proprioception	182	JAG1	OMIM:619574
HP:0010831	Impaired proprioception	57863	CADM3	OMIM:619519
HP:0010831	Impaired proprioception	50717	DCAF8	OMIM:610100
HP:0010831	Impaired proprioception	50846	DHH	OMIM:607080
HP:0010831	Impaired proprioception	3748	KCNC3	ORPHA:98768
HP:0010831	Impaired proprioception	3748	KCNC3	OMIM:605259
HP:0010831	Impaired proprioception	2332	FMR1	OMIM:300623
HP:0010831	Impaired proprioception	476	ATP1A1	OMIM:618036
HP:0010831	Impaired proprioception	5375	PMP2	OMIM:618279
HP:0010831	Impaired proprioception	55526	DHTKD1	OMIM:615025
HP:0010831	Impaired proprioception	54840	APTX	OMIM:208920
HP:0010831	Impaired proprioception	400916	CHCHD10	ORPHA:276435
HP:0010831	Impaired proprioception	90678	LRSAM1	OMIM:614436
HP:0010831	Impaired proprioception	11261	CHP1	OMIM:618438
HP:0010831	Impaired proprioception	23064	SETX	OMIM:606002
HP:0010831	Impaired proprioception	4001	LMNB1	ORPHA:99027
HP:0010831	Impaired proprioception	3752	KCND3	ORPHA:98772
HP:0010831	Impaired proprioception	215	ABCD1	OMIM:300100
HP:0010831	Impaired proprioception	7504	XK	OMIM:300842
HP:0010831	Impaired proprioception	8913	CACNA1G	ORPHA:458803
HP:0010831	Impaired proprioception	8913	CACNA1G	OMIM:616795
HP:0010831	Impaired proprioception	271	AMPD2	OMIM:615686
HP:0010831	Impaired proprioception	5582	PRKCG	OMIM:605361
HP:0010831	Impaired proprioception	7415	VCP	ORPHA:435387
HP:0010831	Impaired proprioception	87178	PNPT1	OMIM:608703
HP:0010831	Impaired proprioception	9990	SLC12A6	OMIM:620068
HP:0010831	Impaired proprioception	80821	DDHD1	ORPHA:101008
HP:0010831	Impaired proprioception	343641	TGM6	OMIM:613908
HP:0010831	Impaired proprioception	10273	STUB1	ORPHA:412057
HP:0010831	Impaired proprioception	55187	VPS13D	ORPHA:95434
HP:0010831	Impaired proprioception	27072	VPS41	ORPHA:95434
HP:0010831	Impaired proprioception	1822	ATN1	ORPHA:101
HP:0010831	Impaired proprioception	6335	SCN9A	OMIM:243000
HP:0010831	Impaired proprioception	5611	DNAJC3	OMIM:616192
HP:0010831	Impaired proprioception	5611	DNAJC3	ORPHA:445062
HP:0010831	Impaired proprioception	2821	GPI	OMIM:613470
HP:0010831	Impaired proprioception	63895	PIEZO2	OMIM:617146
HP:0010831	Impaired proprioception	16	AARS1	OMIM:619661
HP:0010831	Impaired proprioception	57716	PRX	OMIM:614895
HP:0010831	Impaired proprioception	57716	PRX	OMIM:145900
HP:0010831	Impaired proprioception	79628	SH3TC2	ORPHA:99949
HP:0010831	Impaired proprioception	1959	EGR2	OMIM:145900
HP:0000620	Dacryocystitis	23592	LEMD3	ORPHA:166119
HP:0000620	Dacryocystitis	2263	FGFR2	OMIM:149730
HP:0000620	Dacryocystitis	23314	SATB2	ORPHA:251028
HP:0000620	Dacryocystitis	54496	PRMT7	ORPHA:464288
HP:0000620	Dacryocystitis	8626	TP63	OMIM:604292
HP:0000620	Dacryocystitis	56244	BTNL2	ORPHA:797
HP:0000620	Dacryocystitis	3123	HLA-DRB1	ORPHA:797
HP:0000620	Dacryocystitis	3321	IGSF3	OMIM:149700
HP:0000621	Entropion	3106	HLA-B	ORPHA:36426
HP:0000621	Entropion	10320	IKZF1	ORPHA:36426
HP:0000621	Entropion	8626	TP63	ORPHA:1896
HP:0000621	Entropion	523	ATP6V1A	OMIM:617403
HP:0000621	Entropion	220	ALDH1A3	OMIM:615113
HP:0000621	Entropion	1643	DDB2	OMIM:278740
HP:0000621	Entropion	1643	DDB2	ORPHA:910
HP:0000621	Entropion	529	ATP6V1E1	OMIM:617402
HP:0000621	Entropion	5429	POLH	OMIM:278750
HP:0000621	Entropion	4000	LMNA	ORPHA:1662
HP:0000621	Entropion	10269	ZMPSTE24	ORPHA:1662
HP:0000621	Entropion	10269	ZMPSTE24	OMIM:275210
HP:0000621	Entropion	51053	GMNN	OMIM:616835
HP:0000621	Entropion	2074	ERCC6	OMIM:278800
HP:0000621	Entropion	11128	POLR3A	OMIM:264090
HP:0000621	Entropion	11128	POLR3A	ORPHA:3455
HP:0000621	Entropion	7508	XPC	OMIM:278720
HP:0000621	Entropion	7508	XPC	ORPHA:910
HP:0000621	Entropion	2068	ERCC2	OMIM:278730
HP:0000621	Entropion	2068	ERCC2	ORPHA:910
HP:0000621	Entropion	7507	XPA	OMIM:278700
HP:0000621	Entropion	7507	XPA	ORPHA:910
HP:0000621	Entropion	2071	ERCC3	ORPHA:910
HP:0000621	Entropion	2072	ERCC4	ORPHA:910
HP:0000621	Entropion	2073	ERCC5	ORPHA:910
HP:0000621	Entropion	5518	PPP2R1A	ORPHA:457284
HP:0000623	Supranuclear ophthalmoplegia	2629	GBA1	OMIM:231005
HP:0000623	Supranuclear ophthalmoplegia	4287	ATXN3	ORPHA:276238
HP:0000623	Supranuclear ophthalmoplegia	4287	ATXN3	OMIM:109150
HP:0000623	Supranuclear ophthalmoplegia	4287	ATXN3	ORPHA:276244
HP:0000623	Supranuclear ophthalmoplegia	4287	ATXN3	ORPHA:276241
HP:0000623	Supranuclear ophthalmoplegia	6311	ATXN2	ORPHA:98756
HP:0000623	Supranuclear ophthalmoplegia	6310	ATXN1	OMIM:164400
HP:0000623	Supranuclear ophthalmoplegia	6314	ATXN7	OMIM:164500
HP:0000625	Eyelid coloboma	8092	ALX1	ORPHA:306542
HP:0000625	Eyelid coloboma	23394	ADNP	OMIM:615873
HP:0000625	Eyelid coloboma	284252	KCTD1	ORPHA:2036
HP:0000625	Eyelid coloboma	6154	RPL26	OMIM:614900
HP:0000625	Eyelid coloboma	157570	ESCO2	OMIM:268300
HP:0000625	Eyelid coloboma	1723	DHODH	ORPHA:246
HP:0000625	Eyelid coloboma	1723	DHODH	OMIM:263750
HP:0000625	Eyelid coloboma	84172	POLR1B	ORPHA:861
HP:0000625	Eyelid coloboma	9533	POLR1C	ORPHA:861
HP:0000625	Eyelid coloboma	51082	POLR1D	ORPHA:861
HP:0000625	Eyelid coloboma	6949	TCOF1	ORPHA:861
HP:0000625	Eyelid coloboma	3845	KRAS	OMIM:600268
HP:0000625	Eyelid coloboma	3845	KRAS	ORPHA:3339
HP:0000625	Eyelid coloboma	158326	FREM1	OMIM:248450
HP:0000625	Eyelid coloboma	92002	CCNQ	ORPHA:140952
HP:0000625	Eyelid coloboma	2260	FGFR1	OMIM:613001
HP:0000625	Eyelid coloboma	54101	RIPK4	ORPHA:1234
HP:0000625	Eyelid coloboma	1009	CDH11	ORPHA:1299
HP:0000625	Eyelid coloboma	10535	RNASEH2A	ORPHA:51
HP:0000625	Eyelid coloboma	84153	RNASEH2C	ORPHA:51
HP:0000625	Eyelid coloboma	25939	SAMHD1	ORPHA:51
HP:0000625	Eyelid coloboma	79621	RNASEH2B	ORPHA:51
HP:0000625	Eyelid coloboma	103	ADAR	ORPHA:51
HP:0000625	Eyelid coloboma	11277	TREX1	ORPHA:51
HP:0000625	Eyelid coloboma	100147744	RNU7-1	ORPHA:51
HP:0000625	Eyelid coloboma	134353	LSM11	ORPHA:51
HP:0000625	Eyelid coloboma	64135	IFIH1	ORPHA:51
HP:0000625	Eyelid coloboma	2313	FLI1	ORPHA:2308
HP:0000625	Eyelid coloboma	55636	CHD7	ORPHA:138
HP:0000625	Eyelid coloboma	9723	SEMA3E	ORPHA:138
HP:0000625	Eyelid coloboma	7291	TWIST1	OMIM:617746
HP:0000625	Eyelid coloboma	10992	SF3B2	OMIM:164210
HP:0000625	Eyelid coloboma	29957	SLC25A24	ORPHA:2095
HP:0000625	Eyelid coloboma	80144	FRAS1	OMIM:219000
HP:0000625	Eyelid coloboma	25885	POLR1A	OMIM:616462
HP:0000625	Eyelid coloboma	10262	SF3B4	ORPHA:245
HP:0000625	Eyelid coloboma	10262	SF3B4	OMIM:154400
HP:0000625	Eyelid coloboma	1909	EDNRA	OMIM:616367
HP:0000625	Eyelid coloboma	10907	TXNL4A	OMIM:608572
HP:0000629	Periorbital fullness	9653	HS2ST1	OMIM:619194
HP:0000629	Periorbital fullness	7528	YY1	ORPHA:506358
HP:0000629	Periorbital fullness	7528	YY1	OMIM:617557
HP:0000629	Periorbital fullness	11212	PLPBP	OMIM:617290
HP:0000629	Periorbital fullness	27316	RBMX	OMIM:300238
HP:0000629	Periorbital fullness	23013	SPEN	OMIM:619312
HP:0000629	Periorbital fullness	8367	H4C5	OMIM:619950
HP:0000629	Periorbital fullness	10847	SRCAP	OMIM:619595
HP:0000629	Periorbital fullness	8363	H4C11	OMIM:619759
HP:0000629	Periorbital fullness	117581	TWIST2	OMIM:227260
HP:0000629	Periorbital fullness	6228	RPS23	OMIM:617412
HP:0000629	Periorbital fullness	2263	FGFR2	OMIM:149730
HP:0000629	Periorbital fullness	10785	WDR4	OMIM:618347
HP:0000629	Periorbital fullness	4897	NRCAM	OMIM:619833
HP:0000629	Periorbital fullness	85440	DOCK7	ORPHA:411986
HP:0000629	Periorbital fullness	85440	DOCK7	OMIM:615859
HP:0000629	Periorbital fullness	10586	MAB21L2	OMIM:615877
HP:0000629	Periorbital fullness	8364	H4C3	OMIM:619758
HP:0000629	Periorbital fullness	57459	GATAD2B	ORPHA:363686
HP:0000629	Periorbital fullness	7204	TRIO	OMIM:617061
HP:0000629	Periorbital fullness	4893	NRAS	OMIM:137550
HP:0000629	Periorbital fullness	3265	HRAS	OMIM:137550
HP:0000629	Periorbital fullness	5515	PPP2CA	OMIM:618354
HP:0000629	Periorbital fullness	203068	TUBB	OMIM:156610
HP:0000629	Periorbital fullness	55617	TASP1	OMIM:618950
HP:0000629	Periorbital fullness	80816	ASXL3	OMIM:615485
HP:0000629	Periorbital fullness	55904	KMT2E	OMIM:618512
HP:0000629	Periorbital fullness	29072	SETD2	OMIM:620157
HP:0000629	Periorbital fullness	29072	SETD2	OMIM:620155
HP:0000629	Periorbital fullness	51085	MLXIPL	OMIM:194050
HP:0000629	Periorbital fullness	2006	ELN	OMIM:194050
HP:0000629	Periorbital fullness	5934	RBL2	OMIM:619690
HP:0000629	Periorbital fullness	80267	EDEM3	OMIM:619493
HP:0000629	Periorbital fullness	65082	VPS33A	ORPHA:505248
HP:0000629	Periorbital fullness	10020	GNE	OMIM:269921
HP:0000629	Periorbital fullness	10020	GNE	ORPHA:3166
HP:0000629	Periorbital fullness	24140	FTSJ1	OMIM:309549
HP:0000629	Periorbital fullness	7468	NSD2	OMIM:619695
HP:0000629	Periorbital fullness	5824	PEX19	OMIM:614886
HP:0000629	Periorbital fullness	9969	MED13	OMIM:618009
HP:0000629	Periorbital fullness	9757	KMT2B	OMIM:619934
HP:0000629	Periorbital fullness	7703	PCGF2	OMIM:618371
HP:0000629	Periorbital fullness	1105	CHD1	OMIM:617682
HP:0000629	Periorbital fullness	81570	CLPB	OMIM:616271
HP:0000629	Periorbital fullness	6885	MAP3K7	OMIM:157800
HP:0000629	Periorbital fullness	170302	ARX	OMIM:300419
HP:0000629	Periorbital fullness	26057	ANKRD17	OMIM:619504
HP:0010841	Multifocal epileptiform discharges	1203	CLN5	ORPHA:228360
HP:0010841	Multifocal epileptiform discharges	443	ASPA	OMIM:271900
HP:0010841	Multifocal epileptiform discharges	2775	GNAO1	OMIM:617493
HP:0010841	Multifocal epileptiform discharges	51604	PIGT	OMIM:615398
HP:0010841	Multifocal epileptiform discharges	51604	PIGT	ORPHA:369837
HP:0010841	Multifocal epileptiform discharges	8913	CACNA1G	OMIM:618087
HP:0010841	Multifocal epileptiform discharges	8218	CLTCL1	ORPHA:453510
HP:0010841	Multifocal epileptiform discharges	6711	SPTBN1	OMIM:619475
HP:0010841	Multifocal epileptiform discharges	5530	PPP3CA	OMIM:617711
HP:0010841	Multifocal epileptiform discharges	51227	PIGP	OMIM:617599
HP:0010841	Multifocal epileptiform discharges	132	ADK	OMIM:614300
HP:0010841	Multifocal epileptiform discharges	51412	ACTL6B	OMIM:618468
HP:0010841	Multifocal epileptiform discharges	6323	SCN1A	OMIM:619317
HP:0010841	Multifocal epileptiform discharges	6323	SCN1A	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	85440	DOCK7	ORPHA:411986
HP:0010841	Multifocal epileptiform discharges	22845	DOLK	ORPHA:91131
HP:0010841	Multifocal epileptiform discharges	23389	MED13L	ORPHA:369891
HP:0010841	Multifocal epileptiform discharges	6335	SCN9A	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	6326	SCN2A	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	2554	GABRA1	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	6324	SCN1B	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	57526	PCDH19	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	2566	GABRG2	ORPHA:33069
HP:0010841	Multifocal epileptiform discharges	10128	LRPPRC	ORPHA:70472
HP:0010841	Multifocal epileptiform discharges	501	ALDH7A1	ORPHA:3006
HP:0010841	Multifocal epileptiform discharges	11212	PLPBP	ORPHA:3006
HP:0010841	Multifocal epileptiform discharges	8131	NPRL3	ORPHA:98820
HP:0010841	Multifocal epileptiform discharges	10641	NPRL2	ORPHA:98820
HP:0010841	Multifocal epileptiform discharges	9681	DEPDC5	ORPHA:98820
HP:0010841	Multifocal epileptiform discharges	6821	SUOX	OMIM:272300
HP:0010841	Multifocal epileptiform discharges	4615	MYD88	ORPHA:33226
HP:0010841	Multifocal epileptiform discharges	6792	CDKL5	ORPHA:505652
HP:0010841	Multifocal epileptiform discharges	3778	KCNMA1	OMIM:618596
HP:0010841	Multifocal epileptiform discharges	1468	SLC25A10	OMIM:618972
HP:0010841	Multifocal epileptiform discharges	79587	CARS2	OMIM:616672
HP:0010841	Multifocal epileptiform discharges	2257	FGF12	OMIM:617166
HP:0010841	Multifocal epileptiform discharges	2782	GNB1	ORPHA:488613
HP:0010841	Multifocal epileptiform discharges	2782	GNB1	OMIM:616973
HP:0010841	Multifocal epileptiform discharges	1106	CHD2	OMIM:615369
HP:0010841	Multifocal epileptiform discharges	1806	DPYD	ORPHA:1675
HP:0010841	Multifocal epileptiform discharges	478	ATP1A3	OMIM:619606
HP:0010841	Multifocal epileptiform discharges	7280	TUBB2A	OMIM:615763
HP:0010841	Multifocal epileptiform discharges	6334	SCN8A	OMIM:614558
HP:0010841	Multifocal epileptiform discharges	10565	ARFGEF1	OMIM:619964
HP:0010841	Multifocal epileptiform discharges	6304	SATB1	OMIM:619229
HP:0010841	Multifocal epileptiform discharges	9568	GABBR2	OMIM:617904
HP:0010841	Multifocal epileptiform discharges	56052	ALG1	OMIM:608540
HP:0010841	Multifocal epileptiform discharges	8869	ST3GAL5	OMIM:609056
HP:0010841	Multifocal epileptiform discharges	3736	KCNA1	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	9091	PIGQ	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	81603	TRIM8	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	2902	GRIN1	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	79751	SLC25A22	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	150094	SIK1	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	8573	CASK	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	23312	DMXL2	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	2917	GRM7	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	170302	ARX	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	11284	PNKP	ORPHA:1934
HP:0010841	Multifocal epileptiform discharges	4761	NEUROD2	ORPHA:1934
HP:0010843	EEG with focal slow activity	2782	GNB1	OMIM:616973
HP:0010844	EEG with multifocal slow activity	3737	KCNA2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	1759	DNM1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	8120	AP3B2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	523	ATP6V1A	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	10991	SLC38A3	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	51343	FZR1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	22906	TRAK1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2566	GABRG2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	1917	EEF1A2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2561	GABRB2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	8831	SYNGAP1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	7532	YWHAG	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	79876	UBA5	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	6328	SCN3A	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2558	GABRA5	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	781	CACNA2D1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2906	GRIN2D	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	116150	NUS1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	10659	CELF2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	774	CACNA1B	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	1213	CLTC	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	51741	WWOX	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	23334	SZT2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	51412	ACTL6B	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	348980	HCN1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	6506	SLC1A2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	8867	SYNJ1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2258	FGF13	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	477	ATP1A2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	3745	KCNB1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	284111	SLC13A5	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	25977	NECAP1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	16	AARS1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	6334	SCN8A	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	22866	CNKSR2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	9568	GABBR2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2555	GABRA2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	55152	DALRD3	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	773	CACNA1A	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	26999	CYFIP2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	4915	NTRK2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	25973	PARS2	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	23097	CDK19	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	64801	ARV1	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	79947	DHDDS	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	2257	FGF12	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	5530	PPP3CA	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	478	ATP1A3	ORPHA:442835
HP:0010844	EEG with multifocal slow activity	84992	PIGY	OMIM:616809
HP:0010844	EEG with multifocal slow activity	2903	GRIN2A	ORPHA:289266
HP:0010845	EEG with generalized slow activity	1203	CLN5	ORPHA:228360
HP:0010845	EEG with generalized slow activity	1798	DPAGT1	ORPHA:86309
HP:0010845	EEG with generalized slow activity	11133	KPTN	ORPHA:397612
HP:0010845	EEG with generalized slow activity	6792	CDKL5	OMIM:300672
HP:0010845	EEG with generalized slow activity	4204	MECP2	OMIM:300055
HP:0010845	EEG with generalized slow activity	283987	HID1	OMIM:619983
HP:0010845	EEG with generalized slow activity	10588	MTHFS	OMIM:618367
HP:0010845	EEG with generalized slow activity	2893	GRIA4	OMIM:617864
HP:0010845	EEG with generalized slow activity	1593	CYP27A1	OMIM:213700
HP:0010845	EEG with generalized slow activity	11342	RNF13	ORPHA:544503
HP:0010845	EEG with generalized slow activity	22845	DOLK	ORPHA:91131
HP:0010845	EEG with generalized slow activity	4001	LMNB1	ORPHA:99027
HP:0010845	EEG with generalized slow activity	6513	SLC2A1	ORPHA:1942
HP:0010845	EEG with generalized slow activity	8831	SYNGAP1	ORPHA:1942
HP:0010845	EEG with generalized slow activity	1173	AP2M1	ORPHA:1942
HP:0010845	EEG with generalized slow activity	6323	SCN1A	ORPHA:1942
HP:0010845	EEG with generalized slow activity	340533	NEXMIF	ORPHA:1942
HP:0010845	EEG with generalized slow activity	1106	CHD2	ORPHA:1942
HP:0010845	EEG with generalized slow activity	6529	SLC6A1	ORPHA:1942
HP:0010845	EEG with generalized slow activity	501	ALDH7A1	ORPHA:3006
HP:0010845	EEG with generalized slow activity	11212	PLPBP	ORPHA:3006
HP:0010845	EEG with generalized slow activity	26047	CNTNAP2	ORPHA:163681
HP:0010845	EEG with generalized slow activity	25978	CHMP2B	ORPHA:275864
HP:0010845	EEG with generalized slow activity	25978	CHMP2B	ORPHA:100070
HP:0010845	EEG with generalized slow activity	5663	PSEN1	ORPHA:275864
HP:0010845	EEG with generalized slow activity	5663	PSEN1	ORPHA:100070
HP:0010845	EEG with generalized slow activity	2896	GRN	ORPHA:275864
HP:0010845	EEG with generalized slow activity	2896	GRN	ORPHA:100070
HP:0010845	EEG with generalized slow activity	54664	TMEM106B	ORPHA:275864
HP:0010845	EEG with generalized slow activity	54664	TMEM106B	ORPHA:100070
HP:0010845	EEG with generalized slow activity	8878	SQSTM1	ORPHA:275864
HP:0010845	EEG with generalized slow activity	4137	MAPT	ORPHA:275864
HP:0010845	EEG with generalized slow activity	4137	MAPT	ORPHA:100070
HP:0010845	EEG with generalized slow activity	54209	TREM2	ORPHA:275864
HP:0010845	EEG with generalized slow activity	54209	TREM2	ORPHA:100070
HP:0010845	EEG with generalized slow activity	7415	VCP	ORPHA:275864
HP:0010845	EEG with generalized slow activity	7415	VCP	ORPHA:100070
HP:0010846	EEG with persistent abnormal rhythmic activity	5621	PRNP	ORPHA:282166
HP:0010846	EEG with persistent abnormal rhythmic activity	2581	GALC	ORPHA:206443
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	6513	SLC2A1	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	2562	GABRB3	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	2554	GABRA1	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	8912	CACNA1H	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	8629	JRK	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	2566	GABRG2	ORPHA:64280
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	3737	KCNA2	OMIM:616366
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	23067	SETD1B	OMIM:619000
HP:0000630	Abnormal retinal artery morphology	5167	ENPP1	ORPHA:51608
HP:0000630	Abnormal retinal artery morphology	368	ABCC6	ORPHA:51608
HP:0000630	Abnormal retinal artery morphology	84168	ANTXR1	OMIM:230740
HP:0000630	Abnormal retinal artery morphology	1282	COL4A1	OMIM:180000
HP:0000630	Abnormal retinal artery morphology	1282	COL4A1	OMIM:611773
HP:0000630	Abnormal retinal artery morphology	1282	COL4A1	OMIM:175780
HP:0000630	Abnormal retinal artery morphology	6804	STX1A	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	7461	CLIP2	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	84277	DNAJC30	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	8468	FKBP6	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	5982	RFC2	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	2969	GTF2I	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	3984	LIMK1	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	9569	GTF2IRD1	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	155382	VPS37D	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	155368	METTL27	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	114049	BUD23	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	7458	EIF4H	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	84163	GTF2IRD2	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	9275	BCL7B	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	26608	TBL2	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	653361	NCF1	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	135886	TMEM270	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	51085	MLXIPL	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	51085	MLXIPL	OMIM:194050
HP:0000630	Abnormal retinal artery morphology	9031	BAZ1B	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	2006	ELN	ORPHA:904
HP:0000630	Abnormal retinal artery morphology	2006	ELN	OMIM:194050
HP:0000630	Abnormal retinal artery morphology	4693	NDP	ORPHA:90050
HP:0000630	Abnormal retinal artery morphology	4041	LRP5	ORPHA:90050
HP:0000630	Abnormal retinal artery morphology	8322	FZD4	ORPHA:90050
HP:0000630	Abnormal retinal artery morphology	4508	MT-ATP6	ORPHA:644
HP:0000630	Abnormal retinal artery morphology	1312	COMT	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	221037	JMJD1C	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	2812	GP1BB	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	6239	RREB1	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	6899	TBX1	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	7290	HIRA	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	9632	SEC24C	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	7353	UFD1	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	421	ARVCF	ORPHA:567
HP:0000630	Abnormal retinal artery morphology	85465	SELENOI	ORPHA:506353
HP:0000630	Abnormal retinal artery morphology	4514	MT-CO3	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4519	MT-CYB	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4541	MT-ND6	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4540	MT-ND5	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4539	MT-ND4L	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4535	MT-ND1	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4536	MT-ND2	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4538	MT-ND4	OMIM:535000
HP:0000630	Abnormal retinal artery morphology	4750	NEK1	ORPHA:2751
HP:0000630	Abnormal retinal artery morphology	2161	F12	ORPHA:330
HP:0000630	Abnormal retinal artery morphology	7287	TULP1	OMIM:600132
HP:0000630	Abnormal retinal artery morphology	9129	PRPF3	OMIM:601414
HP:0000630	Abnormal retinal artery morphology	7439	BEST1	OMIM:193220
HP:0000630	Abnormal retinal artery morphology	427	ASAH1	ORPHA:333
HP:0000630	Abnormal retinal artery morphology	427	ASAH1	OMIM:228000
HP:0000630	Abnormal retinal artery morphology	5476	CTSA	ORPHA:351
HP:0000630	Abnormal retinal artery morphology	5476	CTSA	OMIM:256540
HP:0000630	Abnormal retinal artery morphology	6609	SMPD1	ORPHA:77293
HP:0000630	Abnormal retinal artery morphology	6609	SMPD1	OMIM:257200
HP:0000630	Abnormal retinal artery morphology	3074	HEXB	ORPHA:309155
HP:0000630	Abnormal retinal artery morphology	3074	HEXB	OMIM:268800
HP:0000630	Abnormal retinal artery morphology	2720	GLB1	OMIM:230500
HP:0000630	Abnormal retinal artery morphology	2720	GLB1	OMIM:230650
HP:0000630	Abnormal retinal artery morphology	2720	GLB1	ORPHA:79255
HP:0000630	Abnormal retinal artery morphology	2581	GALC	ORPHA:206436
HP:0000630	Abnormal retinal artery morphology	5660	PSAP	ORPHA:206436
HP:0000630	Abnormal retinal artery morphology	4758	NEU1	OMIM:256550
HP:0000630	Abnormal retinal artery morphology	4758	NEU1	ORPHA:93399
HP:0000630	Abnormal retinal artery morphology	4758	NEU1	ORPHA:812
HP:0000630	Abnormal retinal artery morphology	4758	NEU1	ORPHA:93400
HP:0000630	Abnormal retinal artery morphology	79583	TMEM231	ORPHA:2752
HP:0000630	Abnormal retinal artery morphology	3073	HEXA	OMIM:272800
HP:0000630	Abnormal retinal artery morphology	1615	DARS1	OMIM:615281
HP:0000630	Abnormal retinal artery morphology	2760	GM2A	ORPHA:309246
HP:0000630	Abnormal retinal artery morphology	10730	YME1L1	OMIM:617302
HP:0000630	Abnormal retinal artery morphology	2202	EFEMP1	ORPHA:98977
HP:0000630	Abnormal retinal artery morphology	1545	CYP1B1	ORPHA:98977
HP:0000630	Abnormal retinal artery morphology	4653	MYOC	ORPHA:98977
HP:0000630	Abnormal retinal artery morphology	3490	IGFBP7	OMIM:614224
HP:0000631	Retinal arterial tortuosity	84277	DNAJC30	OMIM:619382
HP:0000631	Retinal arterial tortuosity	85465	SELENOI	ORPHA:506353
HP:0000631	Retinal arterial tortuosity	4514	MT-CO3	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4519	MT-CYB	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4541	MT-ND6	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4540	MT-ND5	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4508	MT-ATP6	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4539	MT-ND4L	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4535	MT-ND1	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4536	MT-ND2	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4538	MT-ND4	OMIM:535000
HP:0000631	Retinal arterial tortuosity	4750	NEK1	ORPHA:2751
HP:0000633	Decreased lacrimation	8518	ELP1	OMIM:223900
HP:0000633	Decreased lacrimation	8518	ELP1	ORPHA:1764
HP:0000633	Decreased lacrimation	9071	CLDN10	OMIM:617671
HP:0000633	Decreased lacrimation	29926	GMPPA	OMIM:615510
HP:0000633	Decreased lacrimation	60684	TRAPPC11	OMIM:615356
HP:0000633	Decreased lacrimation	2263	FGFR2	OMIM:149730
HP:0000633	Decreased lacrimation	9091	PIGQ	OMIM:618548
HP:0000633	Decreased lacrimation	8086	AAAS	OMIM:231550
HP:0000633	Decreased lacrimation	2255	FGF10	OMIM:620193
HP:0000633	Decreased lacrimation	2261	FGFR3	OMIM:620192
HP:0000633	Decreased lacrimation	6558	SLC12A2	OMIM:619080
HP:0000633	Decreased lacrimation	8567	MADD	OMIM:619004
HP:0000633	Decreased lacrimation	8567	MADD	OMIM:619005
HP:0000633	Decreased lacrimation	5075	PAX1	OMIM:615560
HP:0000633	Decreased lacrimation	667	DST	OMIM:614653
HP:0000633	Decreased lacrimation	26040	SETBP1	ORPHA:798
HP:0000633	Decreased lacrimation	2074	ERCC6	OMIM:133540
HP:0000633	Decreased lacrimation	2074	ERCC6	ORPHA:90321
HP:0000633	Decreased lacrimation	162	AP1B1	OMIM:242150
HP:0000633	Decreased lacrimation	3977	LIFR	OMIM:601559
HP:0000633	Decreased lacrimation	4137	MAPT	ORPHA:240071
HP:0000633	Decreased lacrimation	60529	ALX4	OMIM:613451
HP:0000633	Decreased lacrimation	59335	PRDM12	OMIM:616488
HP:0000633	Decreased lacrimation	6663	SOX10	ORPHA:163746
HP:0000633	Decreased lacrimation	6663	SOX10	OMIM:609136
HP:0000633	Decreased lacrimation	55768	NGLY1	ORPHA:404454
HP:0000633	Decreased lacrimation	1161	ERCC8	OMIM:216400
HP:0000633	Decreased lacrimation	1161	ERCC8	ORPHA:90321
HP:0000633	Decreased lacrimation	668	FOXL2	ORPHA:572333
HP:0000633	Decreased lacrimation	2072	ERCC4	ORPHA:90321
HP:0000634	Impaired ocular abduction	64221	ROBO3	OMIM:607313
HP:0000634	Impaired ocular abduction	9935	MAFB	OMIM:617041
HP:0000634	Impaired ocular abduction	57167	SALL4	OMIM:607323
HP:0000634	Impaired ocular abduction	389827	MYMK	ORPHA:1358
HP:0000634	Impaired ocular abduction	101929726	MYMX	ORPHA:1358
HP:0000635	Blue irides	51132	RLIM	OMIM:300978
HP:0000635	Blue irides	5077	PAX3	OMIM:193500
HP:0000635	Blue irides	5077	PAX3	OMIM:148820
HP:0000635	Blue irides	57479	PRR12	OMIM:619539
HP:0000635	Blue irides	7299	TYR	OMIM:203100
HP:0000635	Blue irides	4948	OCA2	OMIM:203200
HP:0000635	Blue irides	4948	OCA2	ORPHA:79432
HP:0000635	Blue irides	4157	MC1R	OMIM:203200
HP:0000635	Blue irides	4157	MC1R	ORPHA:79432
HP:0000635	Blue irides	8924	HERC2	OMIM:615516
HP:0000635	Blue irides	6804	STX1A	ORPHA:904
HP:0000635	Blue irides	7461	CLIP2	ORPHA:904
HP:0000635	Blue irides	84277	DNAJC30	ORPHA:904
HP:0000635	Blue irides	8468	FKBP6	ORPHA:904
HP:0000635	Blue irides	5982	RFC2	ORPHA:904
HP:0000635	Blue irides	2969	GTF2I	ORPHA:904
HP:0000635	Blue irides	3984	LIMK1	ORPHA:904
HP:0000635	Blue irides	9569	GTF2IRD1	ORPHA:904
HP:0000635	Blue irides	155382	VPS37D	ORPHA:904
HP:0000635	Blue irides	155368	METTL27	ORPHA:904
HP:0000635	Blue irides	114049	BUD23	ORPHA:904
HP:0000635	Blue irides	7458	EIF4H	ORPHA:904
HP:0000635	Blue irides	84163	GTF2IRD2	ORPHA:904
HP:0000635	Blue irides	9275	BCL7B	ORPHA:904
HP:0000635	Blue irides	26608	TBL2	ORPHA:904
HP:0000635	Blue irides	653361	NCF1	ORPHA:904
HP:0000635	Blue irides	135886	TMEM270	ORPHA:904
HP:0000635	Blue irides	51085	MLXIPL	ORPHA:904
HP:0000635	Blue irides	51085	MLXIPL	OMIM:194050
HP:0000635	Blue irides	9031	BAZ1B	ORPHA:904
HP:0000635	Blue irides	2006	ELN	ORPHA:904
HP:0000635	Blue irides	2006	ELN	OMIM:194050
HP:0000635	Blue irides	51151	SLC45A2	OMIM:606574
HP:0000635	Blue irides	6638	SNRPN	OMIM:105830
HP:0000635	Blue irides	7337	UBE3A	OMIM:105830
HP:0000635	Blue irides	8626	TP63	OMIM:604292
HP:0000635	Blue irides	5573	PRKAR1A	ORPHA:280651
HP:0000635	Blue irides	5573	PRKAR1A	OMIM:101800
HP:0000635	Blue irides	5144	PDE4D	ORPHA:280651
HP:0000635	Blue irides	5144	PDE4D	OMIM:614613
HP:0000635	Blue irides	388552	BLOC1S3	OMIM:614077
HP:0000635	Blue irides	5594	MAPK1	OMIM:619087
HP:0000635	Blue irides	6663	SOX10	OMIM:613266
HP:0000635	Blue irides	6663	SOX10	OMIM:611584
HP:0000635	Blue irides	1908	EDN3	OMIM:613265
HP:0000635	Blue irides	4254	KITLG	OMIM:619947
HP:0000635	Blue irides	4286	MITF	OMIM:103500
HP:0000635	Blue irides	5053	PAH	OMIM:261600
HP:0000635	Blue irides	1910	EDNRB	OMIM:277580
HP:0000635	Blue irides	6654	SOS1	OMIM:610733
HP:0000635	Blue irides	7306	TYRP1	ORPHA:79433
HP:0000636	Upper eyelid coloboma	8092	ALX1	OMIM:613456
HP:0000636	Upper eyelid coloboma	158326	FREM1	ORPHA:2717
HP:0000636	Upper eyelid coloboma	7291	TWIST1	OMIM:617746
HP:0000636	Upper eyelid coloboma	1009	CDH11	OMIM:619736
HP:0000636	Upper eyelid coloboma	10992	SF3B2	OMIM:164210
HP:0000636	Upper eyelid coloboma	29957	SLC25A24	ORPHA:2095
HP:0000636	Upper eyelid coloboma	80144	FRAS1	OMIM:219000
HP:0000636	Upper eyelid coloboma	6949	TCOF1	OMIM:154500
HP:0000636	Upper eyelid coloboma	25885	POLR1A	OMIM:616462
HP:0000637	Long palpebral fissure	60	ACTB	OMIM:243310
HP:0000637	Long palpebral fissure	60	ACTB	ORPHA:2995
HP:0000637	Long palpebral fissure	699	BUB1	OMIM:620183
HP:0000637	Long palpebral fissure	23394	ADNP	ORPHA:404448
HP:0000637	Long palpebral fissure	23013	SPEN	OMIM:619312
HP:0000637	Long palpebral fissure	8367	H4C5	OMIM:619950
HP:0000637	Long palpebral fissure	8812	CCNK	OMIM:618147
HP:0000637	Long palpebral fissure	9759	HDAC4	OMIM:619797
HP:0000637	Long palpebral fissure	71	ACTG1	OMIM:614583
HP:0000637	Long palpebral fissure	71	ACTG1	ORPHA:2995
HP:0000637	Long palpebral fissure	10526	IPO8	OMIM:619472
HP:0000637	Long palpebral fissure	9158	FIBP	ORPHA:500095
HP:0000637	Long palpebral fissure	9158	FIBP	OMIM:617107
HP:0000637	Long palpebral fissure	6711	SPTBN1	OMIM:619475
HP:0000637	Long palpebral fissure	51633	OTUD6B	OMIM:617452
HP:0000637	Long palpebral fissure	51633	OTUD6B	ORPHA:505237
HP:0000637	Long palpebral fissure	1857	DVL3	ORPHA:3107
HP:0000637	Long palpebral fissure	7474	WNT5A	ORPHA:3107
HP:0000637	Long palpebral fissure	7474	WNT5A	OMIM:180700
HP:0000637	Long palpebral fissure	1855	DVL1	ORPHA:3107
HP:0000637	Long palpebral fissure	1855	DVL1	OMIM:180700
HP:0000637	Long palpebral fissure	2535	FZD2	ORPHA:3107
HP:0000637	Long palpebral fissure	29123	ANKRD11	ORPHA:2332
HP:0000637	Long palpebral fissure	29123	ANKRD11	OMIM:148050
HP:0000637	Long palpebral fissure	100151683	RNU4ATAC	ORPHA:353298
HP:0000637	Long palpebral fissure	100151683	RNU4ATAC	OMIM:616651
HP:0000637	Long palpebral fissure	84720	PIGO	OMIM:614749
HP:0000637	Long palpebral fissure	84720	PIGO	ORPHA:247262
HP:0000637	Long palpebral fissure	8405	SPOP	OMIM:618829
HP:0000637	Long palpebral fissure	3190	HNRNPK	ORPHA:453504
HP:0000637	Long palpebral fissure	3190	HNRNPK	OMIM:616580
HP:0000637	Long palpebral fissure	3190	HNRNPK	ORPHA:352665
HP:0000637	Long palpebral fissure	51611	DPH5	OMIM:620070
HP:0000637	Long palpebral fissure	57459	GATAD2B	ORPHA:363686
HP:0000637	Long palpebral fissure	3636	INPPL1	OMIM:258480
HP:0000637	Long palpebral fissure	10978	CLP1	ORPHA:411493
HP:0000637	Long palpebral fissure	10978	CLP1	OMIM:615803
HP:0000637	Long palpebral fissure	1759	DNM1	OMIM:620352
HP:0000637	Long palpebral fissure	4297	KMT2A	OMIM:605130
HP:0000637	Long palpebral fissure	55650	PIGV	OMIM:239300
HP:0000637	Long palpebral fissure	55650	PIGV	ORPHA:247262
HP:0000637	Long palpebral fissure	4920	ROR2	OMIM:268310
HP:0000637	Long palpebral fissure	4920	ROR2	ORPHA:1507
HP:0000637	Long palpebral fissure	5296	PIK3R2	OMIM:603387
HP:0000637	Long palpebral fissure	84992	PIGY	ORPHA:247262
HP:0000637	Long palpebral fissure	93210	PGAP3	ORPHA:247262
HP:0000637	Long palpebral fissure	284098	PIGW	ORPHA:247262
HP:0000637	Long palpebral fissure	27315	PGAP2	ORPHA:247262
HP:0000637	Long palpebral fissure	27315	PGAP2	OMIM:614207
HP:0000637	Long palpebral fissure	9487	PIGL	ORPHA:247262
HP:0000637	Long palpebral fissure	4001	LMNB1	OMIM:619179
HP:0000637	Long palpebral fissure	818	CAMK2G	OMIM:618522
HP:0000637	Long palpebral fissure	5879	RAC1	OMIM:617751
HP:0000637	Long palpebral fissure	24140	FTSJ1	OMIM:309549
HP:0000637	Long palpebral fissure	3899	AFF3	OMIM:619297
HP:0000637	Long palpebral fissure	92255	LMBRD2	OMIM:619694
HP:0000637	Long palpebral fissure	1984	EIF5A	OMIM:619376
HP:0000637	Long palpebral fissure	8120	AP3B2	OMIM:617276
HP:0000637	Long palpebral fissure	57479	PRR12	OMIM:619539
HP:0000637	Long palpebral fissure	79718	TBL1XR1	OMIM:616944
HP:0000637	Long palpebral fissure	5604	MAP2K1	ORPHA:1340
HP:0000637	Long palpebral fissure	5605	MAP2K2	ORPHA:1340
HP:0000637	Long palpebral fissure	3845	KRAS	ORPHA:1340
HP:0000637	Long palpebral fissure	673	BRAF	ORPHA:1340
HP:0000637	Long palpebral fissure	64359	NXN	ORPHA:1507
HP:0000637	Long palpebral fissure	51322	WAC	ORPHA:466950
HP:0000637	Long palpebral fissure	7043	TGFB3	OMIM:615582
HP:0000637	Long palpebral fissure	7403	KDM6A	OMIM:300867
HP:0000637	Long palpebral fissure	7403	KDM6A	OMIM:147920
HP:0000637	Long palpebral fissure	1523	CUX1	OMIM:618330
HP:0000637	Long palpebral fissure	5144	PDE4D	ORPHA:439822
HP:0000637	Long palpebral fissure	5813	PURA	ORPHA:438216
HP:0000637	Long palpebral fissure	5813	PURA	OMIM:616158
HP:0000637	Long palpebral fissure	170302	ARX	OMIM:300419
HP:0000637	Long palpebral fissure	649	BMP1	OMIM:614856
HP:0000637	Long palpebral fissure	2783	GNB2	OMIM:619503
HP:0000637	Long palpebral fissure	1642	DDB1	OMIM:619426
HP:0000637	Long palpebral fissure	27445	PCLO	OMIM:608027
HP:0000637	Long palpebral fissure	8085	KMT2D	OMIM:147920
HP:0000639	Nystagmus	26191	PTPN22	ORPHA:397
HP:0000639	Nystagmus	3106	HLA-B	ORPHA:397
HP:0000639	Nystagmus	3123	HLA-DRB1	ORPHA:397
HP:0000639	Nystagmus	8974	P4HA2	ORPHA:397
HP:0000639	Nystagmus	1718	DHCR24	OMIM:602398
HP:0000639	Nystagmus	1718	DHCR24	ORPHA:35107
HP:0000639	Nystagmus	4524	MTHFR	ORPHA:395
HP:0000639	Nystagmus	26235	FBXL4	OMIM:615471
HP:0000639	Nystagmus	2200	FBN1	ORPHA:1885
HP:0000639	Nystagmus	54507	ADAMTSL4	ORPHA:1885
HP:0000639	Nystagmus	7299	TYR	OMIM:203100
HP:0000639	Nystagmus	7299	TYR	OMIM:606952
HP:0000639	Nystagmus	7299	TYR	ORPHA:79431
HP:0000639	Nystagmus	7299	TYR	ORPHA:79434
HP:0000639	Nystagmus	9254	CACNA2D2	OMIM:618501
HP:0000639	Nystagmus	7360	UGP2	OMIM:618744
HP:0000639	Nystagmus	1786	DNMT1	ORPHA:314404
HP:0000639	Nystagmus	5457	POU4F1	ORPHA:314647
HP:0000639	Nystagmus	5457	POU4F1	OMIM:619352
HP:0000639	Nystagmus	23261	CAMTA1	ORPHA:314647
HP:0000639	Nystagmus	51	ACOX1	ORPHA:2971
HP:0000639	Nystagmus	51	ACOX1	OMIM:264470
HP:0000639	Nystagmus	51099	ABHD5	OMIM:275630
HP:0000639	Nystagmus	51099	ABHD5	ORPHA:98907
HP:0000639	Nystagmus	6687	SPG7	ORPHA:99013
HP:0000639	Nystagmus	6687	SPG7	OMIM:607259
HP:0000639	Nystagmus	4552	MTRR	OMIM:236270
HP:0000639	Nystagmus	4552	MTRR	ORPHA:2169
HP:0000639	Nystagmus	54714	CNGB3	OMIM:262300
HP:0000639	Nystagmus	83959	SLC4A11	ORPHA:293603
HP:0000639	Nystagmus	83959	SLC4A11	ORPHA:1490
HP:0000639	Nystagmus	65993	MRPS34	OMIM:617664
HP:0000639	Nystagmus	10528	NOP56	OMIM:614153
HP:0000639	Nystagmus	23322	RPGRIP1L	ORPHA:220497
HP:0000639	Nystagmus	23322	RPGRIP1L	ORPHA:1454
HP:0000639	Nystagmus	23322	RPGRIP1L	OMIM:611560
HP:0000639	Nystagmus	4867	NPHP1	ORPHA:220497
HP:0000639	Nystagmus	4867	NPHP1	ORPHA:110
HP:0000639	Nystagmus	4867	NPHP1	OMIM:609583
HP:0000639	Nystagmus	65062	TMEM237	ORPHA:220497
HP:0000639	Nystagmus	65062	TMEM237	ORPHA:2318
HP:0000639	Nystagmus	65062	TMEM237	ORPHA:475
HP:0000639	Nystagmus	65062	TMEM237	OMIM:614424
HP:0000639	Nystagmus	26504	CNNM4	ORPHA:1873
HP:0000639	Nystagmus	26504	CNNM4	OMIM:217080
HP:0000639	Nystagmus	166378	AFG2A	OMIM:616577
HP:0000639	Nystagmus	27229	TUBGCP4	OMIM:616335
HP:0000639	Nystagmus	27229	TUBGCP4	ORPHA:2518
HP:0000639	Nystagmus	55690	PACS1	OMIM:615009
HP:0000639	Nystagmus	54806	AHI1	ORPHA:220493
HP:0000639	Nystagmus	54806	AHI1	ORPHA:791
HP:0000639	Nystagmus	54806	AHI1	ORPHA:475
HP:0000639	Nystagmus	54806	AHI1	OMIM:608629
HP:0000639	Nystagmus	56623	INPP5E	ORPHA:220493
HP:0000639	Nystagmus	56623	INPP5E	ORPHA:75858
HP:0000639	Nystagmus	56623	INPP5E	ORPHA:1454
HP:0000639	Nystagmus	56623	INPP5E	ORPHA:475
HP:0000639	Nystagmus	153241	CEP120	ORPHA:220493
HP:0000639	Nystagmus	153241	CEP120	ORPHA:475
HP:0000639	Nystagmus	153241	CEP120	OMIM:617761
HP:0000639	Nystagmus	95681	CEP41	ORPHA:220493
HP:0000639	Nystagmus	95681	CEP41	ORPHA:475
HP:0000639	Nystagmus	10686	CLDN16	OMIM:248250
HP:0000639	Nystagmus	85015	USP45	OMIM:618513
HP:0000639	Nystagmus	85015	USP45	ORPHA:65
HP:0000639	Nystagmus	16	AARS1	OMIM:616339
HP:0000639	Nystagmus	16	AARS1	ORPHA:442835
HP:0000639	Nystagmus	10908	PNPLA6	OMIM:275400
HP:0000639	Nystagmus	10908	PNPLA6	ORPHA:2377
HP:0000639	Nystagmus	10908	PNPLA6	ORPHA:1173
HP:0000639	Nystagmus	10908	PNPLA6	OMIM:245800
HP:0000639	Nystagmus	1161	ERCC8	OMIM:216400
HP:0000639	Nystagmus	1161	ERCC8	ORPHA:90324
HP:0000639	Nystagmus	1161	ERCC8	ORPHA:90321
HP:0000639	Nystagmus	1161	ERCC8	ORPHA:90322
HP:0000639	Nystagmus	55636	CHD7	ORPHA:138
HP:0000639	Nystagmus	55636	CHD7	ORPHA:478
HP:0000639	Nystagmus	9723	SEMA3E	ORPHA:138
HP:0000639	Nystagmus	79868	ALG13	ORPHA:324422
HP:0000639	Nystagmus	103	ADAR	OMIM:615010
HP:0000639	Nystagmus	103	ADAR	ORPHA:51
HP:0000639	Nystagmus	283652	SLC24A5	OMIM:113750
HP:0000639	Nystagmus	283652	SLC24A5	ORPHA:370097
HP:0000639	Nystagmus	84100	ARL6	OMIM:209900
HP:0000639	Nystagmus	84100	ARL6	ORPHA:110
HP:0000639	Nystagmus	84100	ARL6	ORPHA:791
HP:0000639	Nystagmus	79140	CCDC28B	OMIM:209900
HP:0000639	Nystagmus	582	BBS1	OMIM:209900
HP:0000639	Nystagmus	582	BBS1	ORPHA:110
HP:0000639	Nystagmus	582	BBS1	ORPHA:791
HP:0000639	Nystagmus	2697	GJA1	ORPHA:2710
HP:0000639	Nystagmus	4508	MT-ATP6	OMIM:551500
HP:0000639	Nystagmus	4508	MT-ATP6	ORPHA:255210
HP:0000639	Nystagmus	4508	MT-ATP6	ORPHA:644
HP:0000639	Nystagmus	1716	DGUOK	OMIM:251880
HP:0000639	Nystagmus	1420	CRYGC	OMIM:604307
HP:0000639	Nystagmus	1420	CRYGC	ORPHA:1377
HP:0000639	Nystagmus	857	CAV1	OMIM:606721
HP:0000639	Nystagmus	5297	PI4KA	OMIM:619621
HP:0000639	Nystagmus	5297	PI4KA	ORPHA:98889
HP:0000639	Nystagmus	5297	PI4KA	OMIM:619708
HP:0000639	Nystagmus	4330	MN1	OMIM:618774
HP:0000639	Nystagmus	26258	BLOC1S6	OMIM:614171
HP:0000639	Nystagmus	57231	SNX14	OMIM:616354
HP:0000639	Nystagmus	57231	SNX14	ORPHA:397709
HP:0000639	Nystagmus	5833	PCYT2	OMIM:618770
HP:0000639	Nystagmus	8550	MAPKAPK5	OMIM:619869
HP:0000639	Nystagmus	3340	NDST1	OMIM:616116
HP:0000639	Nystagmus	89910	UBE3B	ORPHA:2707
HP:0000639	Nystagmus	89910	UBE3B	OMIM:244450
HP:0000639	Nystagmus	6103	RPGR	OMIM:304020
HP:0000639	Nystagmus	6103	RPGR	ORPHA:791
HP:0000639	Nystagmus	788	SLC25A20	ORPHA:159
HP:0000639	Nystagmus	5373	PMM2	OMIM:212065
HP:0000639	Nystagmus	167691	LCA5	OMIM:604537
HP:0000639	Nystagmus	167691	LCA5	ORPHA:364055
HP:0000639	Nystagmus	167691	LCA5	ORPHA:65
HP:0000639	Nystagmus	92482	BBIP1	ORPHA:110
HP:0000639	Nystagmus	80184	CEP290	ORPHA:110
HP:0000639	Nystagmus	80184	CEP290	ORPHA:65
HP:0000639	Nystagmus	80184	CEP290	OMIM:610188
HP:0000639	Nystagmus	80184	CEP290	ORPHA:2318
HP:0000639	Nystagmus	80184	CEP290	OMIM:615991
HP:0000639	Nystagmus	11020	IFT27	ORPHA:110
HP:0000639	Nystagmus	49855	SCAPER	ORPHA:110
HP:0000639	Nystagmus	49855	SCAPER	ORPHA:791
HP:0000639	Nystagmus	51057	WDPCP	ORPHA:110
HP:0000639	Nystagmus	27241	BBS9	ORPHA:110
HP:0000639	Nystagmus	84984	CEP19	ORPHA:110
HP:0000639	Nystagmus	22954	TRIM32	ORPHA:110
HP:0000639	Nystagmus	79738	BBS10	ORPHA:110
HP:0000639	Nystagmus	123016	TTC8	ORPHA:110
HP:0000639	Nystagmus	123016	TTC8	ORPHA:791
HP:0000639	Nystagmus	26160	IFT172	ORPHA:110
HP:0000639	Nystagmus	26160	IFT172	ORPHA:791
HP:0000639	Nystagmus	583	BBS2	ORPHA:110
HP:0000639	Nystagmus	583	BBS2	ORPHA:791
HP:0000639	Nystagmus	585	BBS4	ORPHA:110
HP:0000639	Nystagmus	8195	MKKS	ORPHA:110
HP:0000639	Nystagmus	54585	LZTFL1	ORPHA:110
HP:0000639	Nystagmus	55212	BBS7	ORPHA:110
HP:0000639	Nystagmus	166379	BBS12	ORPHA:110
HP:0000639	Nystagmus	10806	SDCCAG8	ORPHA:110
HP:0000639	Nystagmus	157657	CFAP418	ORPHA:110
HP:0000639	Nystagmus	157657	CFAP418	ORPHA:791
HP:0000639	Nystagmus	129880	BBS5	ORPHA:110
HP:0000639	Nystagmus	80173	IFT74	ORPHA:110
HP:0000639	Nystagmus	5146	PDE6C	OMIM:613093
HP:0000639	Nystagmus	3982	LIM2	OMIM:615277
HP:0000639	Nystagmus	91574	MTRFR	OMIM:615035
HP:0000639	Nystagmus	91574	MTRFR	ORPHA:254930
HP:0000639	Nystagmus	91574	MTRFR	OMIM:613559
HP:0000639	Nystagmus	23126	POGZ	OMIM:616364
HP:0000639	Nystagmus	3769	KCNJ13	OMIM:614186
HP:0000639	Nystagmus	3769	KCNJ13	ORPHA:65
HP:0000639	Nystagmus	5604	MAP2K1	OMIM:615279
HP:0000639	Nystagmus	5604	MAP2K1	ORPHA:1340
HP:0000639	Nystagmus	51692	CPSF3	OMIM:619876
HP:0000639	Nystagmus	3098	HK1	OMIM:618547
HP:0000639	Nystagmus	5590	PRKCZ	ORPHA:1606
HP:0000639	Nystagmus	2563	GABRD	ORPHA:1606
HP:0000639	Nystagmus	23013	SPEN	ORPHA:1606
HP:0000639	Nystagmus	8510	MMP23B	ORPHA:1606
HP:0000639	Nystagmus	7798	LUZP1	ORPHA:1606
HP:0000639	Nystagmus	6497	SKI	ORPHA:1606
HP:0000639	Nystagmus	10630	PDPN	ORPHA:1606
HP:0000639	Nystagmus	3339	HSPG2	ORPHA:1606
HP:0000639	Nystagmus	10277	UBE4B	ORPHA:1606
HP:0000639	Nystagmus	8514	KCNAB2	ORPHA:1606
HP:0000639	Nystagmus	473	RERE	ORPHA:1606
HP:0000639	Nystagmus	63976	PRDM16	ORPHA:1606
HP:0000639	Nystagmus	54897	CASZ1	ORPHA:1606
HP:0000639	Nystagmus	1822	ATN1	ORPHA:101
HP:0000639	Nystagmus	472	ATM	ORPHA:100
HP:0000639	Nystagmus	472	ATM	OMIM:208900
HP:0000639	Nystagmus	55210	ATAD3A	ORPHA:496790
HP:0000639	Nystagmus	55210	ATAD3A	OMIM:617183
HP:0000639	Nystagmus	5605	MAP2K2	OMIM:615280
HP:0000639	Nystagmus	5605	MAP2K2	ORPHA:1340
HP:0000639	Nystagmus	4644	MYO5A	ORPHA:33445
HP:0000639	Nystagmus	4644	MYO5A	ORPHA:79476
HP:0000639	Nystagmus	54828	BCAS3	OMIM:619641
HP:0000639	Nystagmus	1615	DARS1	OMIM:615281
HP:0000639	Nystagmus	122961	ISCA2	OMIM:616370
HP:0000639	Nystagmus	2232	FDXR	ORPHA:543470
HP:0000639	Nystagmus	2232	FDXR	OMIM:617717
HP:0000639	Nystagmus	3913	LAMB2	OMIM:614199
HP:0000639	Nystagmus	56652	TWNK	OMIM:616138
HP:0000639	Nystagmus	56652	TWNK	OMIM:271245
HP:0000639	Nystagmus	56652	TWNK	OMIM:607459
HP:0000639	Nystagmus	56652	TWNK	ORPHA:70595
HP:0000639	Nystagmus	23400	ATP13A2	OMIM:617225
HP:0000639	Nystagmus	23400	ATP13A2	ORPHA:306674
HP:0000639	Nystagmus	200424	TET3	OMIM:618798
HP:0000639	Nystagmus	9711	RUBCN	ORPHA:404499
HP:0000639	Nystagmus	9711	RUBCN	OMIM:615705
HP:0000639	Nystagmus	57192	MCOLN1	ORPHA:578
HP:0000639	Nystagmus	197258	FCSK	OMIM:618324
HP:0000639	Nystagmus	2395	FXN	OMIM:229300
HP:0000639	Nystagmus	2395	FXN	ORPHA:95
HP:0000639	Nystagmus	57679	ALS2	OMIM:205100
HP:0000639	Nystagmus	57679	ALS2	ORPHA:300605
HP:0000639	Nystagmus	8565	YARS1	OMIM:619418
HP:0000639	Nystagmus	84168	ANTXR1	OMIM:230740
HP:0000639	Nystagmus	84168	ANTXR1	ORPHA:2067
HP:0000639	Nystagmus	84131	CEP78	OMIM:617236
HP:0000639	Nystagmus	25836	NIPBL	OMIM:122470
HP:0000639	Nystagmus	25836	NIPBL	ORPHA:199
HP:0000639	Nystagmus	6533	SLC6A6	OMIM:145350
HP:0000639	Nystagmus	100151683	RNU4ATAC	ORPHA:1824
HP:0000639	Nystagmus	100151683	RNU4ATAC	OMIM:226960
HP:0000639	Nystagmus	2778	GNAS	ORPHA:79443
HP:0000639	Nystagmus	2778	GNAS	ORPHA:79444
HP:0000639	Nystagmus	2778	GNAS	OMIM:103580
HP:0000639	Nystagmus	2778	GNAS	ORPHA:94089
HP:0000639	Nystagmus	2778	GNAS	OMIM:612463
HP:0000639	Nystagmus	2778	GNAS	OMIM:612462
HP:0000639	Nystagmus	84295	PHF6	ORPHA:127
HP:0000639	Nystagmus	84295	PHF6	OMIM:301900
HP:0000639	Nystagmus	5654	HTRA1	OMIM:600142
HP:0000639	Nystagmus	85300	ATCAY	OMIM:601238
HP:0000639	Nystagmus	85300	ATCAY	ORPHA:94122
HP:0000639	Nystagmus	9742	IFT140	OMIM:266920
HP:0000639	Nystagmus	9742	IFT140	ORPHA:791
HP:0000639	Nystagmus	9742	IFT140	ORPHA:65
HP:0000639	Nystagmus	120	ADD3	OMIM:617008
HP:0000639	Nystagmus	3000	GUCY2D	OMIM:204000
HP:0000639	Nystagmus	3000	GUCY2D	ORPHA:65
HP:0000639	Nystagmus	3000	GUCY2D	OMIM:601777
HP:0000639	Nystagmus	2583	B4GALNT1	OMIM:609195
HP:0000639	Nystagmus	5813	PURA	OMIM:616158
HP:0000639	Nystagmus	1642	DDB1	OMIM:619426
HP:0000639	Nystagmus	343035	RD3	OMIM:610612
HP:0000639	Nystagmus	343035	RD3	ORPHA:65
HP:0000639	Nystagmus	4157	MC1R	ORPHA:79432
HP:0000639	Nystagmus	4157	MC1R	OMIM:203200
HP:0000639	Nystagmus	4948	OCA2	ORPHA:79432
HP:0000639	Nystagmus	4948	OCA2	OMIM:203200
HP:0000639	Nystagmus	4001	LMNB1	ORPHA:99027
HP:0000639	Nystagmus	4001	LMNB1	OMIM:169500
HP:0000639	Nystagmus	7306	TYRP1	ORPHA:79433
HP:0000639	Nystagmus	7306	TYRP1	OMIM:203290
HP:0000639	Nystagmus	51151	SLC45A2	ORPHA:79435
HP:0000639	Nystagmus	51151	SLC45A2	OMIM:606574
HP:0000639	Nystagmus	1203	CLN5	ORPHA:228360
HP:0000639	Nystagmus	1203	CLN5	OMIM:256731
HP:0000639	Nystagmus	64132	XYLT2	OMIM:605822
HP:0000639	Nystagmus	64132	XYLT2	ORPHA:85194
HP:0000639	Nystagmus	2074	ERCC6	OMIM:133540
HP:0000639	Nystagmus	2074	ERCC6	ORPHA:90324
HP:0000639	Nystagmus	2074	ERCC6	ORPHA:90321
HP:0000639	Nystagmus	2074	ERCC6	ORPHA:90322
HP:0000639	Nystagmus	2074	ERCC6	OMIM:214150
HP:0000639	Nystagmus	7287	TULP1	OMIM:600132
HP:0000639	Nystagmus	7287	TULP1	ORPHA:791
HP:0000639	Nystagmus	7287	TULP1	ORPHA:65
HP:0000639	Nystagmus	7287	TULP1	OMIM:613843
HP:0000639	Nystagmus	10059	DNM1L	ORPHA:330050
HP:0000639	Nystagmus	10059	DNM1L	ORPHA:98673
HP:0000639	Nystagmus	92840	REEP6	ORPHA:791
HP:0000639	Nystagmus	6094	ROM1	ORPHA:791
HP:0000639	Nystagmus	6017	RLBP1	ORPHA:791
HP:0000639	Nystagmus	7401	CLRN1	ORPHA:791
HP:0000639	Nystagmus	24	ABCA4	ORPHA:791
HP:0000639	Nystagmus	130557	ZNF513	ORPHA:791
HP:0000639	Nystagmus	92211	CDHR1	ORPHA:791
HP:0000639	Nystagmus	23568	ARL2BP	ORPHA:791
HP:0000639	Nystagmus	6121	RPE65	ORPHA:791
HP:0000639	Nystagmus	6121	RPE65	ORPHA:364055
HP:0000639	Nystagmus	6121	RPE65	ORPHA:65
HP:0000639	Nystagmus	6121	RPE65	OMIM:204100
HP:0000639	Nystagmus	6121	RPE65	OMIM:613794
HP:0000639	Nystagmus	6101	RP1	ORPHA:791
HP:0000639	Nystagmus	3419	IDH3A	ORPHA:791
HP:0000639	Nystagmus	4751	NEK2	ORPHA:791
HP:0000639	Nystagmus	346007	EYS	ORPHA:791
HP:0000639	Nystagmus	8100	IFT88	ORPHA:791
HP:0000639	Nystagmus	23020	SNRNP200	ORPHA:791
HP:0000639	Nystagmus	762	CA4	ORPHA:791
HP:0000639	Nystagmus	138050	HGSNAT	ORPHA:791
HP:0000639	Nystagmus	196	AHR	ORPHA:791
HP:0000639	Nystagmus	3614	IMPDH1	ORPHA:791
HP:0000639	Nystagmus	3614	IMPDH1	ORPHA:65
HP:0000639	Nystagmus	3614	IMPDH1	OMIM:613837
HP:0000639	Nystagmus	1406	CRX	ORPHA:791
HP:0000639	Nystagmus	1406	CRX	ORPHA:65
HP:0000639	Nystagmus	1406	CRX	OMIM:613829
HP:0000639	Nystagmus	5148	PDE6G	ORPHA:791
HP:0000639	Nystagmus	26121	PRPF31	ORPHA:791
HP:0000639	Nystagmus	4117	MAK	ORPHA:791
HP:0000639	Nystagmus	25794	FSCN2	ORPHA:791
HP:0000639	Nystagmus	375298	CERKL	ORPHA:791
HP:0000639	Nystagmus	3420	IDH3B	ORPHA:791
HP:0000639	Nystagmus	57670	KIAA1549	ORPHA:791
HP:0000639	Nystagmus	7275	TUB	ORPHA:791
HP:0000639	Nystagmus	24148	PRPF6	ORPHA:791
HP:0000639	Nystagmus	23418	CRB1	ORPHA:791
HP:0000639	Nystagmus	23418	CRB1	OMIM:600105
HP:0000639	Nystagmus	23418	CRB1	ORPHA:65
HP:0000639	Nystagmus	23418	CRB1	OMIM:613835
HP:0000639	Nystagmus	10461	MERTK	ORPHA:791
HP:0000639	Nystagmus	57709	SLC7A14	ORPHA:791
HP:0000639	Nystagmus	768206	PRCD	ORPHA:791
HP:0000639	Nystagmus	7399	USH2A	ORPHA:791
HP:0000639	Nystagmus	7399	USH2A	ORPHA:231178
HP:0000639	Nystagmus	23370	ARHGEF18	ORPHA:791
HP:0000639	Nystagmus	5949	RBP3	ORPHA:791
HP:0000639	Nystagmus	6010	RHO	ORPHA:791
HP:0000639	Nystagmus	6010	RHO	ORPHA:215
HP:0000639	Nystagmus	6100	RP9	ORPHA:791
HP:0000639	Nystagmus	10002	NR2E3	ORPHA:791
HP:0000639	Nystagmus	9227	LRAT	ORPHA:791
HP:0000639	Nystagmus	9227	LRAT	ORPHA:364055
HP:0000639	Nystagmus	9227	LRAT	ORPHA:65
HP:0000639	Nystagmus	9227	LRAT	OMIM:613341
HP:0000639	Nystagmus	84140	FAM161A	ORPHA:791
HP:0000639	Nystagmus	55812	SPATA7	ORPHA:791
HP:0000639	Nystagmus	55812	SPATA7	ORPHA:364055
HP:0000639	Nystagmus	55812	SPATA7	ORPHA:65
HP:0000639	Nystagmus	55812	SPATA7	OMIM:604232
HP:0000639	Nystagmus	55624	POMGNT1	ORPHA:791
HP:0000639	Nystagmus	55624	POMGNT1	OMIM:253280
HP:0000639	Nystagmus	79797	ZNF408	ORPHA:791
HP:0000639	Nystagmus	403	ARL3	ORPHA:791
HP:0000639	Nystagmus	403	ARL3	ORPHA:475
HP:0000639	Nystagmus	5145	PDE6A	ORPHA:791
HP:0000639	Nystagmus	10210	TOPORS	ORPHA:791
HP:0000639	Nystagmus	10210	TOPORS	ORPHA:2754
HP:0000639	Nystagmus	8842	PROM1	ORPHA:791
HP:0000639	Nystagmus	8842	PROM1	OMIM:612095
HP:0000639	Nystagmus	9128	PRPF4	ORPHA:791
HP:0000639	Nystagmus	145226	RDH12	ORPHA:791
HP:0000639	Nystagmus	145226	RDH12	ORPHA:65
HP:0000639	Nystagmus	50939	IMPG2	ORPHA:791
HP:0000639	Nystagmus	8481	OFD1	ORPHA:791
HP:0000639	Nystagmus	8481	OFD1	ORPHA:2754
HP:0000639	Nystagmus	2979	GUCA1B	ORPHA:791
HP:0000639	Nystagmus	1259	CNGA1	ORPHA:791
HP:0000639	Nystagmus	1258	CNGB1	ORPHA:791
HP:0000639	Nystagmus	60509	AGBL5	ORPHA:791
HP:0000639	Nystagmus	5961	PRPH2	ORPHA:791
HP:0000639	Nystagmus	388939	PCARE	ORPHA:791
HP:0000639	Nystagmus	7439	BEST1	ORPHA:791
HP:0000639	Nystagmus	7439	BEST1	OMIM:193220
HP:0000639	Nystagmus	9785	DHX38	ORPHA:791
HP:0000639	Nystagmus	5995	RGR	ORPHA:791
HP:0000639	Nystagmus	9129	PRPF3	ORPHA:791
HP:0000639	Nystagmus	55975	KLHL7	ORPHA:791
HP:0000639	Nystagmus	3617	IMPG1	ORPHA:791
HP:0000639	Nystagmus	94137	RP1L1	ORPHA:791
HP:0000639	Nystagmus	5158	PDE6B	ORPHA:791
HP:0000639	Nystagmus	5158	PDE6B	ORPHA:215
HP:0000639	Nystagmus	6102	RP2	ORPHA:791
HP:0000639	Nystagmus	55857	KIZ	ORPHA:791
HP:0000639	Nystagmus	64218	SEMA4A	ORPHA:791
HP:0000639	Nystagmus	4901	NRL	ORPHA:791
HP:0000639	Nystagmus	10594	PRPF8	ORPHA:791
HP:0000639	Nystagmus	6295	SAG	ORPHA:791
HP:0000639	Nystagmus	6295	SAG	ORPHA:215
HP:0000639	Nystagmus	6295	SAG	ORPHA:75382
HP:0000639	Nystagmus	79947	DHDDS	ORPHA:791
HP:0000639	Nystagmus	79947	DHDDS	ORPHA:442835
HP:0000639	Nystagmus	8473	OGT	OMIM:300997
HP:0000639	Nystagmus	4311	MME	OMIM:617018
HP:0000639	Nystagmus	8573	CASK	OMIM:300749
HP:0000639	Nystagmus	8573	CASK	ORPHA:163937
HP:0000639	Nystagmus	1798	DPAGT1	OMIM:608093
HP:0000639	Nystagmus	1798	DPAGT1	ORPHA:86309
HP:0000639	Nystagmus	9526	MPDU1	OMIM:609180
HP:0000639	Nystagmus	128869	PIGU	OMIM:618590
HP:0000639	Nystagmus	11277	TREX1	OMIM:225750
HP:0000639	Nystagmus	11277	TREX1	ORPHA:51
HP:0000639	Nystagmus	6809	STX3	OMIM:619446
HP:0000639	Nystagmus	57520	HECW2	OMIM:617268
HP:0000639	Nystagmus	8492	PRSS12	OMIM:249500
HP:0000639	Nystagmus	2784	GNB3	OMIM:617024
HP:0000639	Nystagmus	2784	GNB3	ORPHA:215
HP:0000639	Nystagmus	4952	OCRL	ORPHA:534
HP:0000639	Nystagmus	427	ASAH1	ORPHA:333
HP:0000639	Nystagmus	92255	LMBRD2	OMIM:619694
HP:0000639	Nystagmus	4647	MYO7A	OMIM:276900
HP:0000639	Nystagmus	4647	MYO7A	ORPHA:231178
HP:0000639	Nystagmus	10083	USH1C	OMIM:276900
HP:0000639	Nystagmus	3858	KRT10	OMIM:609165
HP:0000639	Nystagmus	8260	NAA10	ORPHA:568
HP:0000639	Nystagmus	54880	BCOR	ORPHA:568
HP:0000639	Nystagmus	51102	MECR	OMIM:617282
HP:0000639	Nystagmus	51102	MECR	ORPHA:508093
HP:0000639	Nystagmus	2068	ERCC2	OMIM:601675
HP:0000639	Nystagmus	2068	ERCC2	ORPHA:33364
HP:0000639	Nystagmus	2068	ERCC2	ORPHA:220295
HP:0000639	Nystagmus	1301	COL11A1	ORPHA:560
HP:0000639	Nystagmus	5631	PRPS1	OMIM:301835
HP:0000639	Nystagmus	5631	PRPS1	ORPHA:1187
HP:0000639	Nystagmus	9758	FRMPD4	OMIM:300983
HP:0000639	Nystagmus	6297	SALL2	OMIM:216820
HP:0000639	Nystagmus	64374	SIL1	ORPHA:559
HP:0000639	Nystagmus	64374	SIL1	OMIM:248800
HP:0000639	Nystagmus	51763	INPP5K	ORPHA:559
HP:0000639	Nystagmus	4548	MTR	OMIM:250940
HP:0000639	Nystagmus	3028	HSD17B10	ORPHA:391428
HP:0000639	Nystagmus	3028	HSD17B10	OMIM:300438
HP:0000639	Nystagmus	50801	KCNK4	OMIM:618381
HP:0000639	Nystagmus	8943	AP3D1	OMIM:617050
HP:0000639	Nystagmus	8943	AP3D1	ORPHA:54
HP:0000639	Nystagmus	8943	AP3D1	ORPHA:1000
HP:0000639	Nystagmus	9757	KMT2B	ORPHA:589618
HP:0000639	Nystagmus	9757	KMT2B	OMIM:619934
HP:0000639	Nystagmus	57498	KIDINS220	OMIM:617296
HP:0000639	Nystagmus	57498	KIDINS220	ORPHA:521390
HP:0000639	Nystagmus	29957	SLC25A24	ORPHA:2095
HP:0000639	Nystagmus	65250	CPLANE1	OMIM:277170
HP:0000639	Nystagmus	65250	CPLANE1	ORPHA:2754
HP:0000639	Nystagmus	65250	CPLANE1	ORPHA:475
HP:0000639	Nystagmus	57187	THOC2	OMIM:300957
HP:0000639	Nystagmus	57187	THOC2	ORPHA:457240
HP:0000639	Nystagmus	10526	IPO8	OMIM:619472
HP:0000639	Nystagmus	54539	NDUFB11	OMIM:300952
HP:0000639	Nystagmus	54539	NDUFB11	ORPHA:2609
HP:0000639	Nystagmus	94005	PIGS	OMIM:618143
HP:0000639	Nystagmus	3257	HPS1	OMIM:203300
HP:0000639	Nystagmus	57010	CABP4	OMIM:610427
HP:0000639	Nystagmus	57010	CABP4	ORPHA:215
HP:0000639	Nystagmus	136647	MPLKIP	OMIM:234050
HP:0000639	Nystagmus	136647	MPLKIP	ORPHA:33364
HP:0000639	Nystagmus	100147744	RNU7-1	OMIM:619487
HP:0000639	Nystagmus	100147744	RNU7-1	ORPHA:51
HP:0000639	Nystagmus	6872	TAF1	OMIM:300966
HP:0000639	Nystagmus	374879	ZNF699	OMIM:619488
HP:0000639	Nystagmus	2566	GABRG2	OMIM:618396
HP:0000639	Nystagmus	2566	GABRG2	ORPHA:442835
HP:0000639	Nystagmus	134353	LSM11	OMIM:619486
HP:0000639	Nystagmus	134353	LSM11	ORPHA:51
HP:0000639	Nystagmus	9373	PLAA	ORPHA:521426
HP:0000639	Nystagmus	9373	PLAA	OMIM:617527
HP:0000639	Nystagmus	55717	WDR11	OMIM:620237
HP:0000639	Nystagmus	55717	WDR11	ORPHA:478
HP:0000639	Nystagmus	9573	GDF3	OMIM:613703
HP:0000639	Nystagmus	392255	GDF6	OMIM:613703
HP:0000639	Nystagmus	392255	GDF6	ORPHA:65
HP:0000639	Nystagmus	10681	GNB5	ORPHA:542306
HP:0000639	Nystagmus	10681	GNB5	OMIM:617173
HP:0000639	Nystagmus	10681	GNB5	OMIM:617182
HP:0000639	Nystagmus	7284	TUFM	OMIM:610678
HP:0000639	Nystagmus	6663	SOX10	OMIM:609136
HP:0000639	Nystagmus	6663	SOX10	ORPHA:163746
HP:0000639	Nystagmus	6663	SOX10	ORPHA:478
HP:0000639	Nystagmus	6663	SOX10	OMIM:611584
HP:0000639	Nystagmus	55670	PEX26	ORPHA:772
HP:0000639	Nystagmus	55670	PEX26	ORPHA:44
HP:0000639	Nystagmus	55670	PEX26	OMIM:614872
HP:0000639	Nystagmus	55670	PEX26	ORPHA:912
HP:0000639	Nystagmus	5824	PEX19	ORPHA:772
HP:0000639	Nystagmus	5824	PEX19	ORPHA:44
HP:0000639	Nystagmus	5824	PEX19	ORPHA:912
HP:0000639	Nystagmus	5828	PEX2	ORPHA:772
HP:0000639	Nystagmus	5828	PEX2	ORPHA:44
HP:0000639	Nystagmus	5828	PEX2	OMIM:614867
HP:0000639	Nystagmus	5828	PEX2	ORPHA:912
HP:0000639	Nystagmus	8504	PEX3	ORPHA:772
HP:0000639	Nystagmus	8504	PEX3	ORPHA:44
HP:0000639	Nystagmus	8504	PEX3	OMIM:617370
HP:0000639	Nystagmus	8504	PEX3	ORPHA:912
HP:0000639	Nystagmus	9409	PEX16	ORPHA:772
HP:0000639	Nystagmus	9409	PEX16	ORPHA:44
HP:0000639	Nystagmus	9409	PEX16	OMIM:614877
HP:0000639	Nystagmus	9409	PEX16	ORPHA:912
HP:0000639	Nystagmus	5190	PEX6	ORPHA:772
HP:0000639	Nystagmus	5190	PEX6	ORPHA:95433
HP:0000639	Nystagmus	5190	PEX6	ORPHA:44
HP:0000639	Nystagmus	5190	PEX6	OMIM:614863
HP:0000639	Nystagmus	5190	PEX6	ORPHA:912
HP:0000639	Nystagmus	8799	PEX11B	ORPHA:772
HP:0000639	Nystagmus	8799	PEX11B	ORPHA:44
HP:0000639	Nystagmus	8799	PEX11B	OMIM:614920
HP:0000639	Nystagmus	8799	PEX11B	ORPHA:912
HP:0000639	Nystagmus	5189	PEX1	ORPHA:772
HP:0000639	Nystagmus	5189	PEX1	ORPHA:44
HP:0000639	Nystagmus	5189	PEX1	OMIM:214100
HP:0000639	Nystagmus	5189	PEX1	ORPHA:912
HP:0000639	Nystagmus	5193	PEX12	ORPHA:772
HP:0000639	Nystagmus	5193	PEX12	ORPHA:44
HP:0000639	Nystagmus	5193	PEX12	ORPHA:912
HP:0000639	Nystagmus	5193	PEX12	OMIM:266510
HP:0000639	Nystagmus	5194	PEX13	ORPHA:772
HP:0000639	Nystagmus	5194	PEX13	ORPHA:44
HP:0000639	Nystagmus	5194	PEX13	ORPHA:912
HP:0000639	Nystagmus	5195	PEX14	ORPHA:772
HP:0000639	Nystagmus	5195	PEX14	ORPHA:44
HP:0000639	Nystagmus	5195	PEX14	ORPHA:912
HP:0000639	Nystagmus	5192	PEX10	ORPHA:772
HP:0000639	Nystagmus	5192	PEX10	ORPHA:44
HP:0000639	Nystagmus	5192	PEX10	OMIM:614871
HP:0000639	Nystagmus	5192	PEX10	ORPHA:912
HP:0000639	Nystagmus	5264	PHYH	ORPHA:773
HP:0000639	Nystagmus	5264	PHYH	OMIM:266500
HP:0000639	Nystagmus	5191	PEX7	ORPHA:773
HP:0000639	Nystagmus	5191	PEX7	OMIM:266500
HP:0000639	Nystagmus	10479	SLC9A6	ORPHA:85278
HP:0000639	Nystagmus	63899	NSUN3	OMIM:619012
HP:0000639	Nystagmus	54187	NANS	OMIM:610442
HP:0000639	Nystagmus	1968	EIF2S3	ORPHA:85282
HP:0000639	Nystagmus	81615	TMEM163	OMIM:620243
HP:0000639	Nystagmus	54936	ADPRS	OMIM:618170
HP:0000639	Nystagmus	64802	NMNAT1	OMIM:619260
HP:0000639	Nystagmus	64802	NMNAT1	ORPHA:65
HP:0000639	Nystagmus	64802	NMNAT1	OMIM:608553
HP:0000639	Nystagmus	114034	TOE1	ORPHA:284339
HP:0000639	Nystagmus	114034	TOE1	OMIM:614969
HP:0000639	Nystagmus	9562	MINPP1	ORPHA:284339
HP:0000639	Nystagmus	9562	MINPP1	OMIM:619527
HP:0000639	Nystagmus	84842	HPDL	OMIM:619026
HP:0000639	Nystagmus	284361	EMC10	OMIM:619264
HP:0000639	Nystagmus	1414	CRYBB1	OMIM:611544
HP:0000639	Nystagmus	1414	CRYBB1	ORPHA:1377
HP:0000639	Nystagmus	2260	FGFR1	ORPHA:3157
HP:0000639	Nystagmus	2260	FGFR1	ORPHA:478
HP:0000639	Nystagmus	128674	PROKR2	ORPHA:3157
HP:0000639	Nystagmus	128674	PROKR2	ORPHA:478
HP:0000639	Nystagmus	6657	SOX2	ORPHA:3157
HP:0000639	Nystagmus	9915	ARNT2	ORPHA:3157
HP:0000639	Nystagmus	8820	HESX1	ORPHA:3157
HP:0000639	Nystagmus	8820	HESX1	ORPHA:478
HP:0000639	Nystagmus	5015	OTX2	ORPHA:3157
HP:0000639	Nystagmus	4693	NDP	OMIM:305390
HP:0000639	Nystagmus	4693	NDP	ORPHA:649
HP:0000639	Nystagmus	6095	RORA	OMIM:618060
HP:0000639	Nystagmus	50964	SOST	OMIM:269500
HP:0000639	Nystagmus	23241	PACS2	OMIM:618067
HP:0000639	Nystagmus	10312	TCIRG1	OMIM:259700
HP:0000639	Nystagmus	10312	TCIRG1	ORPHA:667
HP:0000639	Nystagmus	10312	TCIRG1	ORPHA:1782
HP:0000639	Nystagmus	673	BRAF	OMIM:115150
HP:0000639	Nystagmus	673	BRAF	ORPHA:1340
HP:0000639	Nystagmus	57539	WDR35	OMIM:613610
HP:0000639	Nystagmus	57539	WDR35	ORPHA:1515
HP:0000639	Nystagmus	781	CACNA2D1	OMIM:620149
HP:0000639	Nystagmus	781	CACNA2D1	ORPHA:442835
HP:0000639	Nystagmus	123263	MTFMT	OMIM:614947
HP:0000639	Nystagmus	123263	MTFMT	ORPHA:255241
HP:0000639	Nystagmus	2780	GNAT2	OMIM:613856
HP:0000639	Nystagmus	79581	SLC52A2	OMIM:614707
HP:0000639	Nystagmus	64324	NSD1	ORPHA:821
HP:0000639	Nystagmus	64324	NSD1	OMIM:117550
HP:0000639	Nystagmus	29072	SETD2	ORPHA:821
HP:0000639	Nystagmus	10297	APC2	ORPHA:821
HP:0000639	Nystagmus	146167	SLC38A8	OMIM:609218
HP:0000639	Nystagmus	1638	DCT	OMIM:619165
HP:0000639	Nystagmus	54476	RNF216	OMIM:212840
HP:0000639	Nystagmus	54476	RNF216	ORPHA:1173
HP:0000639	Nystagmus	1717	DHCR7	ORPHA:818
HP:0000639	Nystagmus	1717	DHCR7	OMIM:270400
HP:0000639	Nystagmus	4758	NEU1	ORPHA:812
HP:0000639	Nystagmus	4758	NEU1	ORPHA:93400
HP:0000639	Nystagmus	4758	NEU1	OMIM:256550
HP:0000639	Nystagmus	4758	NEU1	ORPHA:93399
HP:0000639	Nystagmus	55780	ERMARD	ORPHA:75857
HP:0000639	Nystagmus	4884	NPTX1	OMIM:620158
HP:0000639	Nystagmus	10978	CLP1	OMIM:615803
HP:0000639	Nystagmus	4038	LRP4	ORPHA:3258
HP:0000639	Nystagmus	324	APC	ORPHA:3258
HP:0000639	Nystagmus	87178	PNPT1	ORPHA:319514
HP:0000639	Nystagmus	87178	PNPT1	OMIM:608703
HP:0000639	Nystagmus	87178	PNPT1	ORPHA:101111
HP:0000639	Nystagmus	87178	PNPT1	OMIM:614932
HP:0000639	Nystagmus	63915	BLOC1S5	OMIM:619172
HP:0000639	Nystagmus	1185	CLCN6	OMIM:619173
HP:0000639	Nystagmus	25839	COG4	ORPHA:263501
HP:0000639	Nystagmus	25839	COG4	OMIM:613489
HP:0000639	Nystagmus	64207	IRF2BPL	OMIM:618088
HP:0000639	Nystagmus	55157	DARS2	ORPHA:137898
HP:0000639	Nystagmus	55157	DARS2	OMIM:611105
HP:0000639	Nystagmus	8792	TNFRSF11A	OMIM:612301
HP:0000639	Nystagmus	8792	TNFRSF11A	ORPHA:1782
HP:0000639	Nystagmus	9570	GOSR2	OMIM:620166
HP:0000639	Nystagmus	672	BRCA1	ORPHA:84
HP:0000639	Nystagmus	10459	MAD2L2	ORPHA:84
HP:0000639	Nystagmus	7516	XRCC2	ORPHA:84
HP:0000639	Nystagmus	29089	UBE2T	ORPHA:84
HP:0000639	Nystagmus	675	BRCA2	ORPHA:84
HP:0000639	Nystagmus	55120	FANCL	ORPHA:84
HP:0000639	Nystagmus	2177	FANCD2	ORPHA:84
HP:0000639	Nystagmus	2175	FANCA	ORPHA:84
HP:0000639	Nystagmus	2187	FANCB	ORPHA:84
HP:0000639	Nystagmus	2176	FANCC	ORPHA:84
HP:0000639	Nystagmus	2178	FANCE	ORPHA:84
HP:0000639	Nystagmus	2188	FANCF	ORPHA:84
HP:0000639	Nystagmus	2189	FANCG	ORPHA:84
HP:0000639	Nystagmus	5888	RAD51	ORPHA:84
HP:0000639	Nystagmus	5889	RAD51C	ORPHA:84
HP:0000639	Nystagmus	55159	RFWD3	ORPHA:84
HP:0000639	Nystagmus	83990	BRIP1	ORPHA:84
HP:0000639	Nystagmus	57697	FANCM	ORPHA:84
HP:0000639	Nystagmus	79728	PALB2	ORPHA:84
HP:0000639	Nystagmus	84464	SLX4	ORPHA:84
HP:0000639	Nystagmus	2072	ERCC4	ORPHA:84
HP:0000639	Nystagmus	2072	ERCC4	ORPHA:90321
HP:0000639	Nystagmus	2072	ERCC4	OMIM:278760
HP:0000639	Nystagmus	2072	ERCC4	ORPHA:220295
HP:0000639	Nystagmus	55215	FANCI	ORPHA:84
HP:0000639	Nystagmus	54675	CRLS1	OMIM:620167
HP:0000639	Nystagmus	823	CAPN1	OMIM:616907
HP:0000639	Nystagmus	222663	SCUBE3	OMIM:619184
HP:0000639	Nystagmus	7274	TTPA	ORPHA:96
HP:0000639	Nystagmus	23036	ZNF292	OMIM:619188
HP:0000639	Nystagmus	4598	MVK	OMIM:610377
HP:0000639	Nystagmus	25942	SIN3A	OMIM:613406
HP:0000639	Nystagmus	25942	SIN3A	ORPHA:94065
HP:0000639	Nystagmus	53834	FGFRL1	OMIM:194190
HP:0000639	Nystagmus	1487	CTBP1	OMIM:194190
HP:0000639	Nystagmus	1487	CTBP1	ORPHA:280
HP:0000639	Nystagmus	3954	LETM1	OMIM:194190
HP:0000639	Nystagmus	3954	LETM1	ORPHA:280
HP:0000639	Nystagmus	3954	LETM1	OMIM:620089
HP:0000639	Nystagmus	7468	NSD2	OMIM:194190
HP:0000639	Nystagmus	7468	NSD2	ORPHA:280
HP:0000639	Nystagmus	10815	CPLX1	OMIM:194190
HP:0000639	Nystagmus	10815	CPLX1	ORPHA:280
HP:0000639	Nystagmus	79152	FA2H	OMIM:612319
HP:0000639	Nystagmus	3475	IFRD1	ORPHA:98771
HP:0000639	Nystagmus	339453	TMEM240	ORPHA:98773
HP:0000639	Nystagmus	339453	TMEM240	OMIM:607454
HP:0000639	Nystagmus	7840	ALMS1	ORPHA:64
HP:0000639	Nystagmus	7840	ALMS1	OMIM:203800
HP:0000639	Nystagmus	57096	RPGRIP1	ORPHA:65
HP:0000639	Nystagmus	10383	TUBB4B	ORPHA:65
HP:0000639	Nystagmus	10383	TUBB4B	OMIM:617879
HP:0000639	Nystagmus	5130	PCYT1A	ORPHA:65
HP:0000639	Nystagmus	5130	PCYT1A	OMIM:608940
HP:0000639	Nystagmus	5130	PCYT1A	ORPHA:85167
HP:0000639	Nystagmus	9657	IQCB1	ORPHA:65
HP:0000639	Nystagmus	23746	AIPL1	ORPHA:65
HP:0000639	Nystagmus	7025	NR2F1	ORPHA:401777
HP:0000639	Nystagmus	7025	NR2F1	OMIM:615722
HP:0000639	Nystagmus	478	ATP1A3	ORPHA:2131
HP:0000639	Nystagmus	478	ATP1A3	ORPHA:442835
HP:0000639	Nystagmus	478	ATP1A3	OMIM:601338
HP:0000639	Nystagmus	478	ATP1A3	OMIM:614820
HP:0000639	Nystagmus	90624	LYRM7	OMIM:615838
HP:0000639	Nystagmus	3748	KCNC3	ORPHA:98768
HP:0000639	Nystagmus	3748	KCNC3	OMIM:605259
HP:0000639	Nystagmus	493856	CISD2	ORPHA:3463
HP:0000639	Nystagmus	7466	WFS1	ORPHA:3463
HP:0000639	Nystagmus	7466	WFS1	OMIM:222300
HP:0000639	Nystagmus	80704	SLC19A3	OMIM:607483
HP:0000639	Nystagmus	80704	SLC19A3	ORPHA:255241
HP:0000639	Nystagmus	724066	ATXN8	ORPHA:98760
HP:0000639	Nystagmus	724066	ATXN8	OMIM:608768
HP:0000639	Nystagmus	6315	ATXN8OS	ORPHA:98760
HP:0000639	Nystagmus	6315	ATXN8OS	OMIM:608768
HP:0000639	Nystagmus	23503	ZFYVE26	OMIM:270700
HP:0000639	Nystagmus	23503	ZFYVE26	ORPHA:100996
HP:0000639	Nystagmus	1737	DLAT	OMIM:245348
HP:0000639	Nystagmus	492	ATP2B3	OMIM:302500
HP:0000639	Nystagmus	4784	NFIX	OMIM:614753
HP:0000639	Nystagmus	4784	NFIX	ORPHA:420179
HP:0000639	Nystagmus	64135	IFIH1	OMIM:615846
HP:0000639	Nystagmus	64135	IFIH1	ORPHA:51
HP:0000639	Nystagmus	1910	EDNRB	OMIM:277580
HP:0000639	Nystagmus	9101	USP8	ORPHA:401795
HP:0000639	Nystagmus	8813	DPM1	OMIM:608799
HP:0000639	Nystagmus	8813	DPM1	ORPHA:79322
HP:0000639	Nystagmus	27086	FOXP1	OMIM:613670
HP:0000639	Nystagmus	27086	FOXP1	ORPHA:391372
HP:0000639	Nystagmus	340024	SLC6A19	ORPHA:2116
HP:0000639	Nystagmus	57393	CLTRN	ORPHA:2116
HP:0000639	Nystagmus	55149	MTPAP	OMIM:613672
HP:0000639	Nystagmus	55149	MTPAP	ORPHA:254343
HP:0000639	Nystagmus	6390	SDHB	ORPHA:3208
HP:0000639	Nystagmus	6392	SDHD	ORPHA:3208
HP:0000639	Nystagmus	644096	SDHAF1	ORPHA:3208
HP:0000639	Nystagmus	2961	GTF2E2	OMIM:616943
HP:0000639	Nystagmus	2961	GTF2E2	ORPHA:33364
HP:0000639	Nystagmus	64116	SLC39A8	ORPHA:468699
HP:0000639	Nystagmus	64116	SLC39A8	OMIM:616721
HP:0000639	Nystagmus	200403	VWA3B	OMIM:616948
HP:0000639	Nystagmus	6314	ATXN7	ORPHA:94147
HP:0000639	Nystagmus	6314	ATXN7	OMIM:164500
HP:0000639	Nystagmus	701	BUB1B	OMIM:257300
HP:0000639	Nystagmus	28962	OSTM1	OMIM:259720
HP:0000639	Nystagmus	10682	EBP	OMIM:302960
HP:0000639	Nystagmus	5428	POLG	OMIM:607459
HP:0000639	Nystagmus	5428	POLG	ORPHA:70595
HP:0000639	Nystagmus	9990	SLC12A6	ORPHA:1496
HP:0000639	Nystagmus	57724	EPG5	ORPHA:1493
HP:0000639	Nystagmus	57724	EPG5	OMIM:242840
HP:0000639	Nystagmus	9230	RAB11B	OMIM:617807
HP:0000639	Nystagmus	10535	RNASEH2A	ORPHA:51
HP:0000639	Nystagmus	84153	RNASEH2C	ORPHA:51
HP:0000639	Nystagmus	84153	RNASEH2C	OMIM:610329
HP:0000639	Nystagmus	25939	SAMHD1	ORPHA:51
HP:0000639	Nystagmus	79621	RNASEH2B	ORPHA:51
HP:0000639	Nystagmus	4976	OPA1	OMIM:210000
HP:0000639	Nystagmus	4976	OPA1	ORPHA:98673
HP:0000639	Nystagmus	54704	PDP1	OMIM:608782
HP:0000639	Nystagmus	7490	WT1	OMIM:106210
HP:0000639	Nystagmus	7490	WT1	ORPHA:893
HP:0000639	Nystagmus	8600	TNFSF11	OMIM:259710
HP:0000639	Nystagmus	8600	TNFSF11	ORPHA:667
HP:0000639	Nystagmus	10075	HUWE1	OMIM:309590
HP:0000639	Nystagmus	8733	GPAA1	OMIM:617810
HP:0000639	Nystagmus	8733	GPAA1	ORPHA:529665
HP:0000639	Nystagmus	79848	CSPP1	OMIM:615636
HP:0000639	Nystagmus	79848	CSPP1	ORPHA:475
HP:0000639	Nystagmus	4308	TRPM1	OMIM:613216
HP:0000639	Nystagmus	4308	TRPM1	ORPHA:215
HP:0000639	Nystagmus	10586	MAB21L2	OMIM:615877
HP:0000639	Nystagmus	55593	OTUD5	OMIM:301056
HP:0000639	Nystagmus	91147	TMEM67	OMIM:216360
HP:0000639	Nystagmus	91147	TMEM67	ORPHA:1454
HP:0000639	Nystagmus	91147	TMEM67	ORPHA:475
HP:0000639	Nystagmus	91147	TMEM67	OMIM:613550
HP:0000639	Nystagmus	91147	TMEM67	OMIM:615991
HP:0000639	Nystagmus	9150	CTDP1	OMIM:604168
HP:0000639	Nystagmus	9150	CTDP1	ORPHA:48431
HP:0000639	Nystagmus	1806	DPYD	OMIM:274270
HP:0000639	Nystagmus	1806	DPYD	ORPHA:1675
HP:0000639	Nystagmus	84816	RTN4IP1	OMIM:616732
HP:0000639	Nystagmus	2782	GNB1	OMIM:616973
HP:0000639	Nystagmus	2782	GNB1	ORPHA:488613
HP:0000639	Nystagmus	5076	PAX2	ORPHA:1475
HP:0000639	Nystagmus	5076	PAX2	ORPHA:97362
HP:0000639	Nystagmus	5076	PAX2	OMIM:120330
HP:0000639	Nystagmus	8085	KMT2D	ORPHA:2322
HP:0000639	Nystagmus	7403	KDM6A	ORPHA:2322
HP:0000639	Nystagmus	7403	KDM6A	OMIM:300867
HP:0000639	Nystagmus	57505	AARS2	OMIM:615889
HP:0000639	Nystagmus	79644	SRD5A3	OMIM:612379
HP:0000639	Nystagmus	79644	SRD5A3	ORPHA:324737
HP:0000639	Nystagmus	10413	YAP1	ORPHA:1473
HP:0000639	Nystagmus	50	ACO2	OMIM:614559
HP:0000639	Nystagmus	3778	KCNMA1	ORPHA:79137
HP:0000639	Nystagmus	3778	KCNMA1	OMIM:618729
HP:0000639	Nystagmus	4810	NHS	OMIM:302350
HP:0000639	Nystagmus	4810	NHS	ORPHA:627
HP:0000639	Nystagmus	4694	NDUFA1	OMIM:301020
HP:0000639	Nystagmus	4694	NDUFA1	ORPHA:2609
HP:0000639	Nystagmus	23732	FRRS1L	OMIM:616981
HP:0000639	Nystagmus	9401	RECQL4	ORPHA:1225
HP:0000639	Nystagmus	440435	GPR179	OMIM:614565
HP:0000639	Nystagmus	440435	GPR179	ORPHA:215
HP:0000639	Nystagmus	10560	SLC19A2	OMIM:249270
HP:0000639	Nystagmus	6326	SCN2A	OMIM:618924
HP:0000639	Nystagmus	4915	NTRK2	OMIM:617830
HP:0000639	Nystagmus	4915	NTRK2	ORPHA:442835
HP:0000639	Nystagmus	4358	MPV17	OMIM:256810
HP:0000639	Nystagmus	3796	KIF2A	OMIM:615411
HP:0000639	Nystagmus	91137	SLC25A46	OMIM:616505
HP:0000639	Nystagmus	91137	SLC25A46	ORPHA:2254
HP:0000639	Nystagmus	259232	NALCN	OMIM:615419
HP:0000639	Nystagmus	259232	NALCN	ORPHA:371364
HP:0000639	Nystagmus	51524	TMEM138	ORPHA:2318
HP:0000639	Nystagmus	23090	ZNF423	ORPHA:2318
HP:0000639	Nystagmus	57545	CC2D2A	ORPHA:2318
HP:0000639	Nystagmus	57545	CC2D2A	ORPHA:1454
HP:0000639	Nystagmus	57545	CC2D2A	OMIM:612285
HP:0000639	Nystagmus	55764	IFT122	OMIM:218330
HP:0000639	Nystagmus	55764	IFT122	ORPHA:1515
HP:0000639	Nystagmus	149461	CLDN19	OMIM:248190
HP:0000639	Nystagmus	149461	CLDN19	ORPHA:2196
HP:0000639	Nystagmus	22926	ATF6	OMIM:616517
HP:0000639	Nystagmus	9750	RIPOR2	OMIM:616515
HP:0000639	Nystagmus	9361	LONP1	ORPHA:1458
HP:0000639	Nystagmus	23476	BRD4	ORPHA:199
HP:0000639	Nystagmus	9126	SMC3	ORPHA:199
HP:0000639	Nystagmus	8243	SMC1A	ORPHA:199
HP:0000639	Nystagmus	55869	HDAC8	ORPHA:199
HP:0000639	Nystagmus	5885	RAD21	ORPHA:199
HP:0000639	Nystagmus	64840	PORCN	OMIM:305600
HP:0000639	Nystagmus	9997	SCO2	OMIM:604377
HP:0000639	Nystagmus	9997	SCO2	ORPHA:70474
HP:0000639	Nystagmus	157680	VPS13B	ORPHA:193
HP:0000639	Nystagmus	8270	LAGE3	OMIM:301006
HP:0000639	Nystagmus	64857	PLEKHG2	OMIM:616763
HP:0000639	Nystagmus	26503	SLC17A5	OMIM:604369
HP:0000639	Nystagmus	26503	SLC17A5	OMIM:269920
HP:0000639	Nystagmus	2893	GRIA4	OMIM:617864
HP:0000639	Nystagmus	60482	SLC5A7	ORPHA:98914
HP:0000639	Nystagmus	4649	MYO9A	ORPHA:98914
HP:0000639	Nystagmus	4649	MYO9A	OMIM:618198
HP:0000639	Nystagmus	1305	COL13A1	ORPHA:98914
HP:0000639	Nystagmus	1103	CHAT	ORPHA:98914
HP:0000639	Nystagmus	6576	SLC25A1	ORPHA:98914
HP:0000639	Nystagmus	6843	VAMP1	ORPHA:98914
HP:0000639	Nystagmus	375790	AGRN	ORPHA:98914
HP:0000639	Nystagmus	127833	SYT2	ORPHA:98914
HP:0000639	Nystagmus	6572	SLC18A3	ORPHA:98914
HP:0000639	Nystagmus	6616	SNAP25	ORPHA:98914
HP:0000639	Nystagmus	6785	ELOVL4	OMIM:133190
HP:0000639	Nystagmus	6785	ELOVL4	ORPHA:1955
HP:0000639	Nystagmus	84628	NTNG2	OMIM:618718
HP:0000639	Nystagmus	5456	POU3F4	ORPHA:1435
HP:0000639	Nystagmus	91942	NDUFAF2	ORPHA:255241
HP:0000639	Nystagmus	91942	NDUFAF2	ORPHA:2609
HP:0000639	Nystagmus	91942	NDUFAF2	OMIM:618233
HP:0000639	Nystagmus	6834	SURF1	ORPHA:255241
HP:0000639	Nystagmus	6834	SURF1	ORPHA:70474
HP:0000639	Nystagmus	4723	NDUFV1	ORPHA:255241
HP:0000639	Nystagmus	4723	NDUFV1	ORPHA:2609
HP:0000639	Nystagmus	55572	FOXRED1	ORPHA:255241
HP:0000639	Nystagmus	55572	FOXRED1	ORPHA:2609
HP:0000639	Nystagmus	4729	NDUFV2	ORPHA:255241
HP:0000639	Nystagmus	4729	NDUFV2	ORPHA:2609
HP:0000639	Nystagmus	4729	NDUFV2	OMIM:618229
HP:0000639	Nystagmus	55967	NDUFA12	ORPHA:255241
HP:0000639	Nystagmus	51204	TACO1	ORPHA:255241
HP:0000639	Nystagmus	4720	NDUFS2	ORPHA:255241
HP:0000639	Nystagmus	4720	NDUFS2	ORPHA:2609
HP:0000639	Nystagmus	4720	NDUFS2	OMIM:618228
HP:0000639	Nystagmus	4720	NDUFS2	ORPHA:70474
HP:0000639	Nystagmus	4724	NDUFS4	ORPHA:255241
HP:0000639	Nystagmus	4724	NDUFS4	OMIM:252010
HP:0000639	Nystagmus	4724	NDUFS4	ORPHA:2609
HP:0000639	Nystagmus	137682	NDUFAF6	ORPHA:255241
HP:0000639	Nystagmus	4722	NDUFS3	ORPHA:255241
HP:0000639	Nystagmus	4722	NDUFS3	ORPHA:2609
HP:0000639	Nystagmus	79133	NDUFAF5	ORPHA:255241
HP:0000639	Nystagmus	79133	NDUFAF5	ORPHA:2609
HP:0000639	Nystagmus	79133	NDUFAF5	OMIM:618238
HP:0000639	Nystagmus	5160	PDHA1	ORPHA:255241
HP:0000639	Nystagmus	1355	COX15	ORPHA:255241
HP:0000639	Nystagmus	51079	NDUFA13	ORPHA:255241
HP:0000639	Nystagmus	374291	NDUFS7	ORPHA:255241
HP:0000639	Nystagmus	374291	NDUFS7	ORPHA:2609
HP:0000639	Nystagmus	4705	NDUFA10	ORPHA:255241
HP:0000639	Nystagmus	51601	LIPT1	ORPHA:255241
HP:0000639	Nystagmus	4719	NDUFS1	ORPHA:255241
HP:0000639	Nystagmus	4719	NDUFS1	ORPHA:2609
HP:0000639	Nystagmus	4719	NDUFS1	OMIM:618226
HP:0000639	Nystagmus	4695	NDUFA2	ORPHA:255241
HP:0000639	Nystagmus	4697	NDUFA4	ORPHA:255241
HP:0000639	Nystagmus	4704	NDUFA9	ORPHA:255241
HP:0000639	Nystagmus	652	BMP4	ORPHA:139471
HP:0000639	Nystagmus	652	BMP4	OMIM:607932
HP:0000639	Nystagmus	23247	KATNIP	OMIM:616784
HP:0000639	Nystagmus	23247	KATNIP	ORPHA:475
HP:0000639	Nystagmus	7518	XRCC4	OMIM:616541
HP:0000639	Nystagmus	6651	SON	ORPHA:500150
HP:0000639	Nystagmus	133686	NADK2	ORPHA:431361
HP:0000639	Nystagmus	133686	NADK2	OMIM:616034
HP:0000639	Nystagmus	387	RHOA	OMIM:618727
HP:0000639	Nystagmus	85378	TUBGCP6	ORPHA:2518
HP:0000639	Nystagmus	85378	TUBGCP6	OMIM:251270
HP:0000639	Nystagmus	10733	PLK4	ORPHA:2518
HP:0000639	Nystagmus	8139	GAN	OMIM:256850
HP:0000639	Nystagmus	9851	KIAA0753	ORPHA:2754
HP:0000639	Nystagmus	26123	TCTN3	ORPHA:2754
HP:0000639	Nystagmus	5147	PDE6D	ORPHA:2754
HP:0000639	Nystagmus	317662	FAM149B1	ORPHA:2754
HP:0000639	Nystagmus	374654	KIF7	ORPHA:2754
HP:0000639	Nystagmus	374654	KIF7	OMIM:200990
HP:0000639	Nystagmus	9699	RIMS2	OMIM:618970
HP:0000639	Nystagmus	29925	GMPPB	ORPHA:363623
HP:0000639	Nystagmus	29925	GMPPB	OMIM:615351
HP:0000639	Nystagmus	29925	GMPPB	OMIM:615352
HP:0000639	Nystagmus	8884	SLC5A6	OMIM:618973
HP:0000639	Nystagmus	57647	DHX37	OMIM:618731
HP:0000639	Nystagmus	3832	KIF11	OMIM:152950
HP:0000639	Nystagmus	4747	NEFL	OMIM:617882
HP:0000639	Nystagmus	64221	ROBO3	ORPHA:2744
HP:0000639	Nystagmus	64221	ROBO3	OMIM:607313
HP:0000639	Nystagmus	1630	DCC	ORPHA:2744
HP:0000639	Nystagmus	1630	DCC	ORPHA:478
HP:0000639	Nystagmus	529	ATP6V1E1	OMIM:617402
HP:0000639	Nystagmus	170302	ARX	ORPHA:2508
HP:0000639	Nystagmus	170302	ARX	OMIM:300004
HP:0000639	Nystagmus	498	ATP5F1A	OMIM:615228
HP:0000639	Nystagmus	2137	EXTL3	ORPHA:508533
HP:0000639	Nystagmus	5274	SERPINI1	OMIM:604218
HP:0000639	Nystagmus	1409	CRYAA	OMIM:604219
HP:0000639	Nystagmus	1409	CRYAA	ORPHA:1377
HP:0000639	Nystagmus	23646	PLD3	OMIM:617770
HP:0000639	Nystagmus	25915	NDUFAF3	ORPHA:2609
HP:0000639	Nystagmus	25915	NDUFAF3	ORPHA:70474
HP:0000639	Nystagmus	51103	NDUFAF1	ORPHA:2609
HP:0000639	Nystagmus	51300	TIMMDC1	ORPHA:2609
HP:0000639	Nystagmus	51300	TIMMDC1	OMIM:618251
HP:0000639	Nystagmus	4716	NDUFB10	ORPHA:2609
HP:0000639	Nystagmus	284184	NDUFAF8	ORPHA:2609
HP:0000639	Nystagmus	55863	TMEM126B	ORPHA:2609
HP:0000639	Nystagmus	4535	MT-ND1	ORPHA:2609
HP:0000639	Nystagmus	4535	MT-ND1	ORPHA:255210
HP:0000639	Nystagmus	4537	MT-ND3	ORPHA:2609
HP:0000639	Nystagmus	4537	MT-ND3	ORPHA:255210
HP:0000639	Nystagmus	4726	NDUFS6	ORPHA:2609
HP:0000639	Nystagmus	4726	NDUFS6	OMIM:618232
HP:0000639	Nystagmus	126328	NDUFA11	ORPHA:2609
HP:0000639	Nystagmus	126328	NDUFA11	OMIM:618236
HP:0000639	Nystagmus	4709	NDUFB3	ORPHA:2609
HP:0000639	Nystagmus	80224	NUBPL	ORPHA:2609
HP:0000639	Nystagmus	80224	NUBPL	OMIM:618242
HP:0000639	Nystagmus	29078	NDUFAF4	ORPHA:2609
HP:0000639	Nystagmus	29078	NDUFAF4	OMIM:618237
HP:0000639	Nystagmus	4700	NDUFA6	ORPHA:2609
HP:0000639	Nystagmus	4536	MT-ND2	ORPHA:2609
HP:0000639	Nystagmus	4536	MT-ND2	ORPHA:255210
HP:0000639	Nystagmus	4715	NDUFB9	ORPHA:2609
HP:0000639	Nystagmus	4099	MAG	OMIM:616680
HP:0000639	Nystagmus	4099	MAG	ORPHA:459056
HP:0000639	Nystagmus	6873	TAF2	OMIM:615599
HP:0000639	Nystagmus	5361	PLXNA1	OMIM:619955
HP:0000639	Nystagmus	755	CFAP410	OMIM:602271
HP:0000639	Nystagmus	84942	WDR73	OMIM:251300
HP:0000639	Nystagmus	10060	ABCC9	OMIM:619719
HP:0000639	Nystagmus	2067	ERCC1	ORPHA:90322
HP:0000639	Nystagmus	2067	ERCC1	OMIM:610758
HP:0000639	Nystagmus	6720	SREBF1	OMIM:158310
HP:0000639	Nystagmus	4538	MT-ND4	ORPHA:255210
HP:0000639	Nystagmus	4567	MT-TL1	ORPHA:255210
HP:0000639	Nystagmus	4578	MT-TW	ORPHA:255210
HP:0000639	Nystagmus	4577	MT-TV	ORPHA:255210
HP:0000639	Nystagmus	4540	MT-ND5	ORPHA:255210
HP:0000639	Nystagmus	4541	MT-ND6	ORPHA:255210
HP:0000639	Nystagmus	4566	MT-TK	ORPHA:255210
HP:0000639	Nystagmus	3020	H3-3A	OMIM:619720
HP:0000639	Nystagmus	65082	VPS33A	OMIM:617303
HP:0000639	Nystagmus	65082	VPS33A	ORPHA:505248
HP:0000639	Nystagmus	10381	TUBB3	OMIM:614039
HP:0000639	Nystagmus	10381	TUBB3	ORPHA:300570
HP:0000639	Nystagmus	57156	TMEM63C	OMIM:619966
HP:0000639	Nystagmus	112752	IFT43	ORPHA:1515
HP:0000639	Nystagmus	51098	IFT52	ORPHA:1515
HP:0000639	Nystagmus	51098	IFT52	OMIM:617102
HP:0000639	Nystagmus	57728	WDR19	ORPHA:1515
HP:0000639	Nystagmus	10559	SLC35A1	OMIM:603585
HP:0000639	Nystagmus	9289	ADGRG1	OMIM:606854
HP:0000639	Nystagmus	9289	ADGRG1	ORPHA:98889
HP:0000639	Nystagmus	2590	GALNT2	OMIM:618885
HP:0000639	Nystagmus	816	CAMK2B	OMIM:617799
HP:0000639	Nystagmus	8560	DEGS1	OMIM:618404
HP:0000639	Nystagmus	83480	PUS3	ORPHA:488627
HP:0000639	Nystagmus	5832	ALDH18A1	OMIM:601162
HP:0000639	Nystagmus	7020	TFAP2A	OMIM:113620
HP:0000639	Nystagmus	343641	TGM6	ORPHA:276193
HP:0000639	Nystagmus	10715	CERS1	OMIM:616230
HP:0000639	Nystagmus	54872	PIGG	ORPHA:280
HP:0000639	Nystagmus	7469	NELFA	ORPHA:280
HP:0000639	Nystagmus	84504	NKX6-2	OMIM:617560
HP:0000639	Nystagmus	84504	NKX6-2	ORPHA:527497
HP:0000639	Nystagmus	283987	HID1	OMIM:619983
HP:0000639	Nystagmus	93627	TBCK	ORPHA:488632
HP:0000639	Nystagmus	9731	CEP104	OMIM:619988
HP:0000639	Nystagmus	9731	CEP104	ORPHA:475
HP:0000639	Nystagmus	79731	NARS2	OMIM:616239
HP:0000639	Nystagmus	3737	KCNA2	ORPHA:442835
HP:0000639	Nystagmus	1759	DNM1	ORPHA:442835
HP:0000639	Nystagmus	1759	DNM1	OMIM:620352
HP:0000639	Nystagmus	8120	AP3B2	ORPHA:442835
HP:0000639	Nystagmus	523	ATP6V1A	ORPHA:442835
HP:0000639	Nystagmus	10991	SLC38A3	ORPHA:442835
HP:0000639	Nystagmus	51343	FZR1	ORPHA:442835
HP:0000639	Nystagmus	22906	TRAK1	ORPHA:442835
HP:0000639	Nystagmus	1917	EEF1A2	ORPHA:442835
HP:0000639	Nystagmus	2561	GABRB2	ORPHA:442835
HP:0000639	Nystagmus	8831	SYNGAP1	ORPHA:442835
HP:0000639	Nystagmus	7532	YWHAG	ORPHA:442835
HP:0000639	Nystagmus	79876	UBA5	ORPHA:442835
HP:0000639	Nystagmus	6328	SCN3A	ORPHA:442835
HP:0000639	Nystagmus	2558	GABRA5	ORPHA:442835
HP:0000639	Nystagmus	2906	GRIN2D	ORPHA:442835
HP:0000639	Nystagmus	116150	NUS1	ORPHA:442835
HP:0000639	Nystagmus	10659	CELF2	ORPHA:442835
HP:0000639	Nystagmus	10659	CELF2	OMIM:619561
HP:0000639	Nystagmus	774	CACNA1B	ORPHA:442835
HP:0000639	Nystagmus	774	CACNA1B	OMIM:618497
HP:0000639	Nystagmus	1213	CLTC	ORPHA:442835
HP:0000639	Nystagmus	23334	SZT2	ORPHA:442835
HP:0000639	Nystagmus	51412	ACTL6B	ORPHA:442835
HP:0000639	Nystagmus	348980	HCN1	ORPHA:442835
HP:0000639	Nystagmus	6506	SLC1A2	ORPHA:442835
HP:0000639	Nystagmus	8867	SYNJ1	ORPHA:442835
HP:0000639	Nystagmus	2258	FGF13	ORPHA:442835
HP:0000639	Nystagmus	3745	KCNB1	ORPHA:442835
HP:0000639	Nystagmus	284111	SLC13A5	ORPHA:442835
HP:0000639	Nystagmus	25977	NECAP1	ORPHA:442835
HP:0000639	Nystagmus	22866	CNKSR2	ORPHA:442835
HP:0000639	Nystagmus	9568	GABBR2	ORPHA:442835
HP:0000639	Nystagmus	2555	GABRA2	ORPHA:442835
HP:0000639	Nystagmus	55152	DALRD3	ORPHA:442835
HP:0000639	Nystagmus	26999	CYFIP2	ORPHA:442835
HP:0000639	Nystagmus	25973	PARS2	ORPHA:442835
HP:0000639	Nystagmus	23097	CDK19	ORPHA:442835
HP:0000639	Nystagmus	64801	ARV1	ORPHA:442835
HP:0000639	Nystagmus	2257	FGF12	ORPHA:442835
HP:0000639	Nystagmus	5530	PPP3CA	ORPHA:442835
HP:0000639	Nystagmus	3476	IGBP1	ORPHA:52055
HP:0000639	Nystagmus	3476	IGBP1	OMIM:300472
HP:0000639	Nystagmus	57167	SALL4	ORPHA:233
HP:0000639	Nystagmus	57167	SALL4	ORPHA:959
HP:0000639	Nystagmus	9935	MAFB	ORPHA:233
HP:0000639	Nystagmus	1123	CHN1	ORPHA:233
HP:0000639	Nystagmus	79600	TCTN1	ORPHA:475
HP:0000639	Nystagmus	51684	SUFU	ORPHA:475
HP:0000639	Nystagmus	51684	SUFU	OMIM:617757
HP:0000639	Nystagmus	200894	ARL13B	ORPHA:475
HP:0000639	Nystagmus	219844	HYLS1	ORPHA:475
HP:0000639	Nystagmus	219854	TMEM218	ORPHA:475
HP:0000639	Nystagmus	9786	KIAA0586	ORPHA:475
HP:0000639	Nystagmus	79867	TCTN2	ORPHA:475
HP:0000639	Nystagmus	79867	TCTN2	OMIM:616654
HP:0000639	Nystagmus	80776	B9D2	ORPHA:475
HP:0000639	Nystagmus	10464	PIBF1	ORPHA:475
HP:0000639	Nystagmus	80210	ARMC9	ORPHA:475
HP:0000639	Nystagmus	23116	TOGARAM1	ORPHA:475
HP:0000639	Nystagmus	25776	CBY1	ORPHA:475
HP:0000639	Nystagmus	27077	B9D1	ORPHA:475
HP:0000639	Nystagmus	3981	LIG4	ORPHA:235
HP:0000639	Nystagmus	54888	NSUN2	ORPHA:235
HP:0000639	Nystagmus	1947	EFNB1	OMIM:304110
HP:0000639	Nystagmus	1499	CTNNB1	OMIM:617572
HP:0000639	Nystagmus	1182	CLCN3	OMIM:619512
HP:0000639	Nystagmus	1182	CLCN3	OMIM:619517
HP:0000639	Nystagmus	51604	PIGT	OMIM:615398
HP:0000639	Nystagmus	51604	PIGT	ORPHA:369837
HP:0000639	Nystagmus	54914	FOCAD	OMIM:619991
HP:0000639	Nystagmus	55699	IARS2	OMIM:616007
HP:0000639	Nystagmus	54902	TTC19	OMIM:615157
HP:0000639	Nystagmus	286	ANK1	ORPHA:251066
HP:0000639	Nystagmus	6638	SNRPN	OMIM:105830
HP:0000639	Nystagmus	7337	UBE3A	OMIM:105830
HP:0000639	Nystagmus	56052	ALG1	ORPHA:79327
HP:0000639	Nystagmus	11234	HPS5	OMIM:614074
HP:0000639	Nystagmus	4669	NAGLU	OMIM:616491
HP:0000639	Nystagmus	388552	BLOC1S3	OMIM:614077
HP:0000639	Nystagmus	79803	HPS6	OMIM:614075
HP:0000639	Nystagmus	84062	DTNBP1	OMIM:614076
HP:0000639	Nystagmus	4849	CNOT3	OMIM:618672
HP:0000639	Nystagmus	59336	PRDM13	OMIM:619761
HP:0000639	Nystagmus	59336	PRDM13	OMIM:619909
HP:0000639	Nystagmus	22	ABCB7	ORPHA:2802
HP:0000639	Nystagmus	1356	CP	ORPHA:48818
HP:0000639	Nystagmus	9338	TCEAL1	OMIM:301094
HP:0000639	Nystagmus	345193	LRIT3	ORPHA:215
HP:0000639	Nystagmus	93589	CACNA2D4	ORPHA:215
HP:0000639	Nystagmus	2916	GRM6	ORPHA:215
HP:0000639	Nystagmus	6011	GRK1	ORPHA:215
HP:0000639	Nystagmus	6011	GRK1	ORPHA:75382
HP:0000639	Nystagmus	778	CACNA1F	ORPHA:215
HP:0000639	Nystagmus	778	CACNA1F	ORPHA:178333
HP:0000639	Nystagmus	778	CACNA1F	OMIM:300600
HP:0000639	Nystagmus	778	CACNA1F	OMIM:300476
HP:0000639	Nystagmus	778	CACNA1F	OMIM:300071
HP:0000639	Nystagmus	9187	SLC24A1	ORPHA:215
HP:0000639	Nystagmus	2779	GNAT1	ORPHA:215
HP:0000639	Nystagmus	60506	NYX	ORPHA:215
HP:0000639	Nystagmus	2556	GABRA3	OMIM:301091
HP:0000639	Nystagmus	23162	MAPK8IP3	OMIM:618443
HP:0000639	Nystagmus	9319	TRIP13	OMIM:617598
HP:0000639	Nystagmus	85365	ALG2	OMIM:607906
HP:0000639	Nystagmus	57479	PRR12	OMIM:619539
HP:0000639	Nystagmus	83938	LRMDA	OMIM:615179
HP:0000639	Nystagmus	11152	WDR45	OMIM:615179
HP:0000639	Nystagmus	6683	SPAST	OMIM:182601
HP:0000639	Nystagmus	23189	KANK1	OMIM:612900
HP:0000639	Nystagmus	404672	GTF2H5	ORPHA:33364
HP:0000639	Nystagmus	833	CARS1	ORPHA:33364
HP:0000639	Nystagmus	7737	RNF113A	ORPHA:33364
HP:0000639	Nystagmus	6897	TARS1	ORPHA:33364
HP:0000639	Nystagmus	2071	ERCC3	ORPHA:33364
HP:0000639	Nystagmus	2071	ERCC3	ORPHA:220295
HP:0000639	Nystagmus	10195	ALG3	ORPHA:79321
HP:0000639	Nystagmus	79053	ALG8	ORPHA:79325
HP:0000639	Nystagmus	79628	SH3TC2	OMIM:601596
HP:0000639	Nystagmus	79628	SH3TC2	ORPHA:99949
HP:0000639	Nystagmus	3845	KRAS	OMIM:600268
HP:0000639	Nystagmus	3845	KRAS	ORPHA:648
HP:0000639	Nystagmus	3845	KRAS	ORPHA:1340
HP:0000639	Nystagmus	3845	KRAS	OMIM:609942
HP:0000639	Nystagmus	81570	CLPB	OMIM:616271
HP:0000639	Nystagmus	81570	CLPB	ORPHA:445038
HP:0000639	Nystagmus	5587	PRKD1	OMIM:617364
HP:0000639	Nystagmus	6857	SYT1	OMIM:618218
HP:0000639	Nystagmus	6857	SYT1	ORPHA:522077
HP:0000639	Nystagmus	10371	SEMA3A	ORPHA:478
HP:0000639	Nystagmus	81848	SPRY4	ORPHA:478
HP:0000639	Nystagmus	23767	FLRT3	ORPHA:478
HP:0000639	Nystagmus	79625	NDNF	ORPHA:478
HP:0000639	Nystagmus	2253	FGF8	ORPHA:478
HP:0000639	Nystagmus	389549	FEZF1	ORPHA:478
HP:0000639	Nystagmus	3730	ANOS1	ORPHA:478
HP:0000639	Nystagmus	54756	IL17RD	ORPHA:478
HP:0000639	Nystagmus	285025	CCDC141	ORPHA:478
HP:0000639	Nystagmus	60675	PROK2	ORPHA:478
HP:0000639	Nystagmus	1848	DUSP6	ORPHA:478
HP:0000639	Nystagmus	6870	TACR3	ORPHA:478
HP:0000639	Nystagmus	9394	HS6ST1	ORPHA:478
HP:0000639	Nystagmus	8822	FGF17	ORPHA:478
HP:0000639	Nystagmus	23111	SPART	OMIM:275900
HP:0000639	Nystagmus	26277	TINF2	OMIM:268130
HP:0000639	Nystagmus	5087	PBX1	ORPHA:97362
HP:0000639	Nystagmus	54892	NCAPG2	OMIM:618460
HP:0000639	Nystagmus	51728	POLR3K	OMIM:619310
HP:0000639	Nystagmus	85476	GFM1	OMIM:609060
HP:0000639	Nystagmus	23345	SYNE1	OMIM:610743
HP:0000639	Nystagmus	8675	STX16	ORPHA:94089
HP:0000639	Nystagmus	1186	CLCN7	ORPHA:667
HP:0000639	Nystagmus	29887	SNX10	ORPHA:667
HP:0000639	Nystagmus	6548	SLC9A1	OMIM:616291
HP:0000639	Nystagmus	26275	HIBCH	ORPHA:88639
HP:0000639	Nystagmus	26275	HIBCH	OMIM:250620
HP:0000639	Nystagmus	56521	DNAJC12	OMIM:617384
HP:0000639	Nystagmus	1436	CSF1R	OMIM:618476
HP:0000639	Nystagmus	54765	TRIM44	OMIM:617142
HP:0000639	Nystagmus	54765	TRIM44	ORPHA:250923
HP:0000639	Nystagmus	2623	GATA1	OMIM:190685
HP:0000639	Nystagmus	1062	CENPE	OMIM:616051
HP:0000639	Nystagmus	8878	SQSTM1	OMIM:617145
HP:0000639	Nystagmus	4081	MAB21L1	OMIM:618479
HP:0000639	Nystagmus	2033	EP300	ORPHA:353284
HP:0000639	Nystagmus	5010	CLDN11	OMIM:619328
HP:0000639	Nystagmus	79944	L2HGDH	OMIM:236792
HP:0000639	Nystagmus	57551	TAOK1	OMIM:619575
HP:0000639	Nystagmus	4125	MAN2B1	OMIM:248500
HP:0000639	Nystagmus	29920	PYCR2	ORPHA:481152
HP:0000639	Nystagmus	29920	PYCR2	OMIM:616420
HP:0000639	Nystagmus	22845	DOLK	OMIM:610768
HP:0000639	Nystagmus	55750	AGK	OMIM:212350
HP:0000639	Nystagmus	55750	AGK	ORPHA:1369
HP:0000639	Nystagmus	6898	TAT	ORPHA:28378
HP:0000639	Nystagmus	112812	FDX2	OMIM:251900
HP:0000639	Nystagmus	2332	FMR1	OMIM:300623
HP:0000639	Nystagmus	2705	GJB1	OMIM:302800
HP:0000639	Nystagmus	2705	GJB1	ORPHA:1175
HP:0000639	Nystagmus	8635	RNASET2	OMIM:612951
HP:0000639	Nystagmus	1200	TPP1	OMIM:609270
HP:0000639	Nystagmus	668	FOXL2	OMIM:110100
HP:0000639	Nystagmus	668	FOXL2	ORPHA:572333
HP:0000639	Nystagmus	1938	EEF2	ORPHA:101112
HP:0000639	Nystagmus	1938	EEF2	OMIM:609306
HP:0000639	Nystagmus	55229	PANK4	OMIM:619593
HP:0000639	Nystagmus	145173	B3GLCT	OMIM:261540
HP:0000639	Nystagmus	145173	B3GLCT	ORPHA:709
HP:0000639	Nystagmus	6513	SLC2A1	ORPHA:168577
HP:0000639	Nystagmus	6513	SLC2A1	OMIM:608885
HP:0000639	Nystagmus	2132	EXT2	ORPHA:52022
HP:0000639	Nystagmus	51317	PHF21A	ORPHA:52022
HP:0000639	Nystagmus	128240	NAXE	OMIM:617186
HP:0000639	Nystagmus	29123	ANKRD11	ORPHA:261250
HP:0000639	Nystagmus	23287	AGTPBP1	OMIM:618276
HP:0000639	Nystagmus	23287	AGTPBP1	ORPHA:2254
HP:0000639	Nystagmus	57704	GBA2	ORPHA:320391
HP:0000639	Nystagmus	57704	GBA2	OMIM:614409
HP:0000639	Nystagmus	57704	GBA2	ORPHA:352641
HP:0000639	Nystagmus	627	BDNF	ORPHA:893
HP:0000639	Nystagmus	6904	TBCD	OMIM:617193
HP:0000639	Nystagmus	777	CACNA1E	OMIM:618285
HP:0000639	Nystagmus	4668	NAGA	OMIM:609241
HP:0000639	Nystagmus	4668	NAGA	ORPHA:79279
HP:0000639	Nystagmus	1387	CREBBP	ORPHA:353277
HP:0000639	Nystagmus	9487	PIGL	OMIM:280000
HP:0000639	Nystagmus	3295	HSD17B4	OMIM:261515
HP:0000639	Nystagmus	3295	HSD17B4	OMIM:233400
HP:0000639	Nystagmus	22800	RRAS2	ORPHA:648
HP:0000639	Nystagmus	867	CBL	ORPHA:648
HP:0000639	Nystagmus	8216	LZTR1	ORPHA:648
HP:0000639	Nystagmus	6016	RIT1	ORPHA:648
HP:0000639	Nystagmus	6237	RRAS	ORPHA:648
HP:0000639	Nystagmus	5894	RAF1	ORPHA:648
HP:0000639	Nystagmus	22808	MRAS	ORPHA:648
HP:0000639	Nystagmus	200734	SPRED2	ORPHA:648
HP:0000639	Nystagmus	4893	NRAS	ORPHA:648
HP:0000639	Nystagmus	6654	SOS1	ORPHA:648
HP:0000639	Nystagmus	6655	SOS2	ORPHA:648
HP:0000639	Nystagmus	5781	PTPN11	ORPHA:648
HP:0000639	Nystagmus	5922	RASA2	ORPHA:648
HP:0000639	Nystagmus	55074	OXR1	OMIM:213000
HP:0000639	Nystagmus	3735	KARS1	OMIM:619147
HP:0000639	Nystagmus	27072	VPS41	OMIM:619389
HP:0000639	Nystagmus	3897	L1CAM	ORPHA:2182
HP:0000639	Nystagmus	8665	EIF3F	OMIM:618295
HP:0000639	Nystagmus	60481	ELOVL5	ORPHA:423296
HP:0000639	Nystagmus	60481	ELOVL5	OMIM:615957
HP:0000639	Nystagmus	10128	LRPPRC	OMIM:220111
HP:0000639	Nystagmus	158	ADSL	OMIM:103050
HP:0000639	Nystagmus	9131	AIFM1	OMIM:300232
HP:0000639	Nystagmus	23769	FLRT1	ORPHA:320406
HP:0000639	Nystagmus	64837	KLC2	ORPHA:320406
HP:0000639	Nystagmus	64837	KLC2	OMIM:609541
HP:0000639	Nystagmus	1545	CYP1B1	ORPHA:708
HP:0000639	Nystagmus	2301	FOXE3	ORPHA:708
HP:0000639	Nystagmus	2301	FOXE3	OMIM:610256
HP:0000639	Nystagmus	5308	PITX2	ORPHA:708
HP:0000639	Nystagmus	2296	FOXC1	ORPHA:708
HP:0000639	Nystagmus	2296	FOXC1	ORPHA:250923
HP:0000639	Nystagmus	1119	CHKA	OMIM:620023
HP:0000639	Nystagmus	8496	PPFIBP1	OMIM:620024
HP:0000639	Nystagmus	4983	OPHN1	OMIM:300486
HP:0000639	Nystagmus	51218	GLRX5	ORPHA:401866
HP:0000639	Nystagmus	51218	GLRX5	OMIM:616859
HP:0000639	Nystagmus	1352	COX10	OMIM:619046
HP:0000639	Nystagmus	100996717	NOTCH2NLC	ORPHA:2289
HP:0000639	Nystagmus	23431	AP4E1	OMIM:613744
HP:0000639	Nystagmus	7102	TSPAN7	OMIM:300210
HP:0000639	Nystagmus	51360	MBTPS2	ORPHA:2273
HP:0000639	Nystagmus	57492	ARID1B	OMIM:135900
HP:0000639	Nystagmus	3899	AFF3	OMIM:619297
HP:0000639	Nystagmus	55037	PTCD3	OMIM:619057
HP:0000639	Nystagmus	22897	CEP164	OMIM:614845
HP:0000639	Nystagmus	8546	AP3B1	OMIM:608233
HP:0000639	Nystagmus	26090	ABHD12	OMIM:612674
HP:0000639	Nystagmus	10352	WARS2	ORPHA:572798
HP:0000639	Nystagmus	10352	WARS2	OMIM:617710
HP:0000639	Nystagmus	1600	DAB1	OMIM:615945
HP:0000639	Nystagmus	4338	MOCS2	OMIM:252160
HP:0000639	Nystagmus	10382	TUBB4A	OMIM:612438
HP:0000639	Nystagmus	5376	PMP22	ORPHA:3115
HP:0000639	Nystagmus	5376	PMP22	OMIM:145900
HP:0000639	Nystagmus	4359	MPZ	ORPHA:3115
HP:0000639	Nystagmus	4359	MPZ	OMIM:145900
HP:0000639	Nystagmus	443	ASPA	OMIM:271900
HP:0000639	Nystagmus	5956	OPN1LW	OMIM:303700
HP:0000639	Nystagmus	2652	OPN1MW	OMIM:303700
HP:0000639	Nystagmus	1593	CYP27A1	ORPHA:909
HP:0000639	Nystagmus	9255	AIMP1	OMIM:260600
HP:0000639	Nystagmus	5149	PDE6H	OMIM:610024
HP:0000639	Nystagmus	11340	EXOSC8	ORPHA:2254
HP:0000639	Nystagmus	51010	EXOSC3	ORPHA:2254
HP:0000639	Nystagmus	51010	EXOSC3	OMIM:614678
HP:0000639	Nystagmus	7443	VRK1	ORPHA:2254
HP:0000639	Nystagmus	285175	UNC80	OMIM:616801
HP:0000639	Nystagmus	285175	UNC80	ORPHA:371364
HP:0000639	Nystagmus	27286	SRPX2	ORPHA:98889
HP:0000639	Nystagmus	157570	ESCO2	ORPHA:3103
HP:0000639	Nystagmus	83475	DOHH	OMIM:620066
HP:0000639	Nystagmus	10236	HNRNPR	OMIM:620073
HP:0000639	Nystagmus	2521	FUS	ORPHA:300605
HP:0000639	Nystagmus	10280	SIGMAR1	ORPHA:300605
HP:0000639	Nystagmus	10558	SPTLC1	ORPHA:300605
HP:0000639	Nystagmus	26227	PHGDH	OMIM:601815
HP:0000639	Nystagmus	284217	LAMA1	OMIM:615960
HP:0000639	Nystagmus	284217	LAMA1	ORPHA:370022
HP:0000639	Nystagmus	3187	HNRNPH1	OMIM:620083
HP:0000639	Nystagmus	7846	TUBA1A	ORPHA:171680
HP:0000639	Nystagmus	7355	SLC35A2	OMIM:300896
HP:0000639	Nystagmus	9968	MED12	OMIM:300895
HP:0000639	Nystagmus	282809	POC1B	OMIM:615973
HP:0000639	Nystagmus	85021	REPS1	OMIM:617916
HP:0000639	Nystagmus	4990	SIX6	OMIM:212550
HP:0000639	Nystagmus	92154	MTSS2	OMIM:620086
HP:0000639	Nystagmus	84978	FRMD5	OMIM:620094
HP:0000639	Nystagmus	51067	YARS2	OMIM:613561
HP:0000639	Nystagmus	2581	GALC	OMIM:245200
HP:0000639	Nystagmus	80199	FUZ	ORPHA:1136
HP:0000639	Nystagmus	2703	GJA8	ORPHA:1377
HP:0000639	Nystagmus	4094	MAF	ORPHA:1377
HP:0000639	Nystagmus	1413	CRYBA4	ORPHA:1377
HP:0000639	Nystagmus	1415	CRYBB2	ORPHA:1377
HP:0000639	Nystagmus	1421	CRYGD	ORPHA:1377
HP:0000639	Nystagmus	3329	HSPD1	OMIM:612233
HP:0000639	Nystagmus	1261	CNGA3	OMIM:216900
HP:0000639	Nystagmus	1959	EGR2	OMIM:145900
HP:0000639	Nystagmus	57716	PRX	OMIM:145900
HP:0000639	Nystagmus	80207	OPA3	ORPHA:67036
HP:0000639	Nystagmus	80207	OPA3	ORPHA:67047
HP:0000639	Nystagmus	9420	CYP7B1	ORPHA:100986
HP:0000639	Nystagmus	9420	CYP7B1	OMIM:270800
HP:0000639	Nystagmus	29926	GMPPA	OMIM:615510
HP:0000639	Nystagmus	27249	MMADHC	OMIM:277410
HP:0000639	Nystagmus	291	SLC25A4	ORPHA:1369
HP:0000639	Nystagmus	26007	TKFC	ORPHA:1369
HP:0000639	Nystagmus	125988	MICOS13	ORPHA:67047
HP:0000639	Nystagmus	6609	SMPD1	ORPHA:77293
HP:0000639	Nystagmus	2058	EPRS1	OMIM:617951
HP:0000639	Nystagmus	26146	TRAF3IP1	OMIM:616629
HP:0000639	Nystagmus	128989	TANGO2	ORPHA:480864
HP:0000639	Nystagmus	57599	WDR48	ORPHA:401800
HP:0000639	Nystagmus	1641	DCX	OMIM:300067
HP:0000639	Nystagmus	1001	CDH3	ORPHA:1573
HP:0000639	Nystagmus	5062	PAK2	ORPHA:1571
HP:0000639	Nystagmus	9419	CRIPT	OMIM:615789
HP:0000639	Nystagmus	27010	TPK1	OMIM:614458
HP:0000639	Nystagmus	55644	OSGEP	OMIM:617729
HP:0000639	Nystagmus	79955	PDZD7	ORPHA:231178
HP:0000639	Nystagmus	25861	WHRN	ORPHA:231178
HP:0000639	Nystagmus	84059	ADGRV1	ORPHA:231178
HP:0000639	Nystagmus	7874	USP7	ORPHA:500055
HP:0000639	Nystagmus	51501	HIKESHI	OMIM:616881
HP:0000639	Nystagmus	58494	JAM2	OMIM:618824
HP:0000639	Nystagmus	22931	RAB18	OMIM:614222
HP:0000639	Nystagmus	4337	MOCS1	OMIM:252150
HP:0000639	Nystagmus	22934	RPIA	OMIM:608611
HP:0000639	Nystagmus	4796	TONSL	ORPHA:93357
HP:0000639	Nystagmus	26047	CNTNAP2	ORPHA:163681
HP:0000639	Nystagmus	4714	NDUFB8	ORPHA:70474
HP:0000639	Nystagmus	2670	GFAP	ORPHA:363722
HP:0000639	Nystagmus	2073	ERCC5	ORPHA:220295
HP:0000639	Nystagmus	5500	PPP1CB	OMIM:617506
HP:0000639	Nystagmus	100506658	OCLN	OMIM:251290
HP:0000639	Nystagmus	9197	SLC33A1	OMIM:614482
HP:0000639	Nystagmus	55023	PHIP	OMIM:617991
HP:0000639	Nystagmus	200205	IBA57	OMIM:615330
HP:0000639	Nystagmus	22943	DKK1	ORPHA:268882
HP:0000639	Nystagmus	55315	SLC29A3	ORPHA:1782
HP:0000639	Nystagmus	25974	MMACHC	ORPHA:79282
HP:0000639	Nystagmus	25974	MMACHC	OMIM:277400
HP:0000639	Nystagmus	5718	PSMD12	OMIM:617516
HP:0000639	Nystagmus	23404	EXOSC2	OMIM:617763
HP:0000639	Nystagmus	22978	NT5C2	OMIM:613162
HP:0000639	Nystagmus	547	KIF1A	OMIM:614255
HP:0000639	Nystagmus	6736	SRY	ORPHA:1772
HP:0000639	Nystagmus	55753	OGDHL	OMIM:619701
HP:0000639	Nystagmus	22868	FASTKD2	OMIM:618855
HP:0000639	Nystagmus	5052	PRDX1	OMIM:277400
HP:0000639	Nystagmus	267010	RNU12	ORPHA:512260
HP:0000639	Nystagmus	4287	ATXN3	OMIM:109150
HP:0000639	Nystagmus	4287	ATXN3	ORPHA:276244
HP:0000639	Nystagmus	4287	ATXN3	ORPHA:276241
HP:0000639	Nystagmus	4287	ATXN3	ORPHA:276238
HP:0000639	Nystagmus	23533	PIK3R5	ORPHA:64753
HP:0000639	Nystagmus	23064	SETX	ORPHA:64753
HP:0000639	Nystagmus	23064	SETX	OMIM:606002
HP:0000639	Nystagmus	4361	MRE11	ORPHA:251347
HP:0000639	Nystagmus	4361	MRE11	OMIM:604391
HP:0000639	Nystagmus	6334	SCN8A	OMIM:614306
HP:0000639	Nystagmus	785	CACNB4	OMIM:613855
HP:0000639	Nystagmus	785	CACNB4	ORPHA:211067
HP:0000639	Nystagmus	27235	COQ2	ORPHA:227510
HP:0000639	Nystagmus	27235	COQ2	OMIM:146500
HP:0000639	Nystagmus	27235	COQ2	ORPHA:98933
HP:0000639	Nystagmus	55775	TDP1	ORPHA:94124
HP:0000639	Nystagmus	5582	PRKCG	ORPHA:98763
HP:0000639	Nystagmus	6507	SLC1A3	ORPHA:209967
HP:0000639	Nystagmus	80781	COL18A1	OMIM:267750
HP:0000639	Nystagmus	25814	ATXN10	ORPHA:98761
HP:0000639	Nystagmus	55187	VPS13D	OMIM:607317
HP:0000639	Nystagmus	6311	ATXN2	OMIM:183090
HP:0000639	Nystagmus	219285	SAMD9L	OMIM:619806
HP:0000639	Nystagmus	80208	SPG11	OMIM:604360
HP:0000639	Nystagmus	2895	GRID2	ORPHA:363432
HP:0000639	Nystagmus	7345	UCHL1	OMIM:615491
HP:0000639	Nystagmus	6389	SDHA	OMIM:619259
HP:0000639	Nystagmus	10273	STUB1	ORPHA:412057
HP:0000639	Nystagmus	51741	WWOX	OMIM:614322
HP:0000639	Nystagmus	7436	VLDLR	OMIM:224050
HP:0000639	Nystagmus	54834	GDAP2	OMIM:618369
HP:0000639	Nystagmus	10939	AFG3L2	OMIM:610246
HP:0000639	Nystagmus	23203	PMPCA	OMIM:213200
HP:0000639	Nystagmus	23203	PMPCA	ORPHA:1170
HP:0000639	Nystagmus	10935	PRDX3	OMIM:619862
HP:0000639	Nystagmus	51271	UBAP1	OMIM:618418
HP:0000639	Nystagmus	5981	RFC1	OMIM:614575
HP:0000639	Nystagmus	54840	APTX	OMIM:208920
HP:0000639	Nystagmus	6908	TBP	OMIM:607136
HP:0000639	Nystagmus	6310	ATXN1	OMIM:164400
HP:0000639	Nystagmus	55703	POLR3B	OMIM:607694
HP:0000639	Nystagmus	11128	POLR3A	OMIM:607694
HP:0000639	Nystagmus	10749	KIF1C	ORPHA:397946
HP:0000639	Nystagmus	10749	KIF1C	OMIM:611302
HP:0000639	Nystagmus	92935	MARS2	OMIM:611390
HP:0000639	Nystagmus	92935	MARS2	ORPHA:314603
HP:0000639	Nystagmus	347734	SLC35B2	OMIM:620269
HP:0000639	Nystagmus	5159	PDGFRB	OMIM:615007
HP:0000639	Nystagmus	169522	KCNV2	OMIM:610356
HP:0000639	Nystagmus	3417	IDH1	ORPHA:99646
HP:0000639	Nystagmus	56915	EXOSC5	OMIM:619576
HP:0000639	Nystagmus	55870	ASH1L	OMIM:617796
HP:0000639	Nystagmus	3756	KCNH1	OMIM:135500
HP:0000639	Nystagmus	23096	IQSEC2	ORPHA:397933
HP:0000639	Nystagmus	23327	NEDD4L	OMIM:617201
HP:0000639	Nystagmus	2629	GBA1	OMIM:231005
HP:0000639	Nystagmus	5660	PSAP	OMIM:610539
HP:0000639	Nystagmus	4929	NR4A2	ORPHA:98808
HP:0000639	Nystagmus	3615	IMPDH2	ORPHA:98808
HP:0000639	Nystagmus	3035	HARS1	OMIM:614504
HP:0000639	Nystagmus	79753	SNIP1	OMIM:614501
HP:0000639	Nystagmus	89781	HPS4	OMIM:614073
HP:0000639	Nystagmus	6182	MRPL12	OMIM:618951
HP:0000639	Nystagmus	122553	TRAPPC6B	OMIM:617862
HP:0000639	Nystagmus	9474	ATG5	OMIM:617584
HP:0000639	Nystagmus	2625	GATA3	OMIM:146255
HP:0000639	Nystagmus	9215	LARGE1	OMIM:608840
HP:0000639	Nystagmus	3798	KIF5A	OMIM:617235
HP:0000639	Nystagmus	1804	DPP6	ORPHA:2514
HP:0000639	Nystagmus	7515	XRCC1	OMIM:617633
HP:0000639	Nystagmus	57731	SPTBN4	OMIM:617519
HP:0000639	Nystagmus	84233	TMEM126A	OMIM:612989
HP:0000639	Nystagmus	84188	FAR1	ORPHA:447753
HP:0000639	Nystagmus	84274	COQ5	OMIM:619028
HP:0000639	Nystagmus	55280	CWF19L1	ORPHA:453521
HP:0000639	Nystagmus	6804	STX1A	ORPHA:904
HP:0000639	Nystagmus	7461	CLIP2	ORPHA:904
HP:0000639	Nystagmus	84277	DNAJC30	ORPHA:904
HP:0000639	Nystagmus	8468	FKBP6	ORPHA:904
HP:0000639	Nystagmus	5982	RFC2	ORPHA:904
HP:0000639	Nystagmus	2969	GTF2I	ORPHA:904
HP:0000639	Nystagmus	3984	LIMK1	ORPHA:904
HP:0000639	Nystagmus	9569	GTF2IRD1	ORPHA:904
HP:0000639	Nystagmus	155382	VPS37D	ORPHA:904
HP:0000639	Nystagmus	155368	METTL27	ORPHA:904
HP:0000639	Nystagmus	114049	BUD23	ORPHA:904
HP:0000639	Nystagmus	7458	EIF4H	ORPHA:904
HP:0000639	Nystagmus	84163	GTF2IRD2	ORPHA:904
HP:0000639	Nystagmus	9275	BCL7B	ORPHA:904
HP:0000639	Nystagmus	26608	TBL2	ORPHA:904
HP:0000639	Nystagmus	653361	NCF1	ORPHA:904
HP:0000639	Nystagmus	135886	TMEM270	ORPHA:904
HP:0000639	Nystagmus	51085	MLXIPL	ORPHA:904
HP:0000639	Nystagmus	9031	BAZ1B	ORPHA:904
HP:0000639	Nystagmus	2006	ELN	ORPHA:904
HP:0000639	Nystagmus	4935	GPR143	OMIM:300500
HP:0000639	Nystagmus	261734	NPHP4	OMIM:606996
HP:0000639	Nystagmus	5354	PLP1	OMIM:312080
HP:0000639	Nystagmus	5917	RARS1	OMIM:616140
HP:0000639	Nystagmus	91452	ACBD5	OMIM:618863
HP:0000639	Nystagmus	5528	PPP2R5D	ORPHA:457279
HP:0000639	Nystagmus	60529	ALX4	OMIM:613451
HP:0000639	Nystagmus	51660	MPC1	OMIM:614741
HP:0000639	Nystagmus	64834	ELOVL1	OMIM:618527
HP:0000639	Nystagmus	9894	TELO2	ORPHA:488642
HP:0000639	Nystagmus	9894	TELO2	OMIM:616954
HP:0000639	Nystagmus	8777	MPDZ	OMIM:615219
HP:0000639	Nystagmus	51259	TMEM216	OMIM:608091
HP:0000639	Nystagmus	1201	CLN3	ORPHA:228346
HP:0000639	Nystagmus	2671	GFER	ORPHA:330054
HP:0000639	Nystagmus	1130	LYST	ORPHA:167
HP:0000639	Nystagmus	11160	ERLIN2	ORPHA:209951
HP:0000639	Nystagmus	57165	GJC2	OMIM:608804
HP:0000639	Nystagmus	129285	PPP1R21	OMIM:619383
HP:0000639	Nystagmus	6712	SPTBN2	OMIM:600224
HP:0000639	Nystagmus	6567	SLC16A2	OMIM:300523
HP:0000639	Nystagmus	55163	PNPO	OMIM:610090
HP:0000639	Nystagmus	54903	MKS1	OMIM:249000
HP:0000639	Nystagmus	54664	TMEM106B	OMIM:617964
HP:0000639	Nystagmus	3781	KCNN2	OMIM:619724
HP:0000639	Nystagmus	5080	PAX6	OMIM:136520
HP:0000639	Nystagmus	5080	PAX6	ORPHA:2334
HP:0000639	Nystagmus	2898	GRIK2	OMIM:619580
HP:0000639	Nystagmus	84343	HPS3	OMIM:614072
HP:0000639	Nystagmus	5393	EXOSC9	OMIM:618065
HP:0000639	Nystagmus	55503	TRPV6	OMIM:618188
HP:0000639	Nystagmus	4041	LRP5	ORPHA:2788
HP:0000639	Nystagmus	80055	PGAP1	OMIM:615802
HP:0000639	Nystagmus	3852	KRT5	ORPHA:79396
HP:0000639	Nystagmus	3861	KRT14	ORPHA:79396
HP:0000639	Nystagmus	3166	HMX1	OMIM:612109
HP:0000639	Nystagmus	526	ATP6V1B2	ORPHA:79500
HP:0000639	Nystagmus	57465	TBC1D24	ORPHA:79500
HP:0000639	Nystagmus	90167	FRMD7	OMIM:310700
HP:0000639	Nystagmus	6091	ROBO1	OMIM:257400
HP:0000639	Nystagmus	221927	BRAT1	OMIM:618056
HP:0000639	Nystagmus	9181	ARHGEF2	OMIM:617523
HP:0000639	Nystagmus	3708	ITPR1	OMIM:606658
HP:0000639	Nystagmus	5934	RBL2	OMIM:619690
HP:0000639	Nystagmus	773	CACNA1A	OMIM:183086
HP:0000639	Nystagmus	773	CACNA1A	ORPHA:98758
HP:0000639	Nystagmus	773	CACNA1A	ORPHA:569
HP:0000639	Nystagmus	2643	GCH1	OMIM:128230
HP:0000639	Nystagmus	26278	SACS	ORPHA:98
HP:0000639	Nystagmus	6658	SOX3	ORPHA:67045
HP:0000639	Nystagmus	146227	BEAN1	OMIM:117210
HP:0000639	Nystagmus	255928	SYT14	ORPHA:284271
HP:0000639	Nystagmus	255928	SYT14	OMIM:614229
HP:0000639	Nystagmus	8913	CACNA1G	ORPHA:458803
HP:0000639	Nystagmus	131669	UROC1	ORPHA:210128
HP:0000639	Nystagmus	5081	PAX7	OMIM:618578
HP:0000639	Nystagmus	54974	THG1L	OMIM:618800
HP:0000639	Nystagmus	2911	GRM1	OMIM:614831
HP:0000639	Nystagmus	2911	GRM1	ORPHA:324262
HP:0000639	Nystagmus	3752	KCND3	OMIM:607346
HP:0000639	Nystagmus	112476	PRRT2	ORPHA:569
HP:0000639	Nystagmus	6323	SCN1A	ORPHA:569
HP:0000639	Nystagmus	477	ATP1A2	ORPHA:569
HP:0000639	Nystagmus	2259	FGF14	OMIM:620174
HP:0000639	Nystagmus	5621	PRNP	ORPHA:282166
HP:0000639	Nystagmus	23556	PIGN	ORPHA:280633
HP:0000639	Nystagmus	4728	NDUFS8	OMIM:618222
HP:0000639	Nystagmus	1892	ECHS1	OMIM:616277
HP:0000639	Nystagmus	100131801	PET100	OMIM:619055
HP:0000639	Nystagmus	9091	PIGQ	OMIM:618548
HP:0000639	Nystagmus	146057	TTBK2	ORPHA:98767
HP:0000639	Nystagmus	5830	PEX5	OMIM:616716
HP:0000639	Nystagmus	7276	TTR	OMIM:105210
HP:0000639	Nystagmus	55129	ANO10	ORPHA:284289
HP:0000639	Nystagmus	55129	ANO10	OMIM:613728
HP:0000639	Nystagmus	2196	FAT2	OMIM:617769
HP:0000639	Nystagmus	8398	PLA2G6	ORPHA:35069
HP:0000639	Nystagmus	27245	AHDC1	ORPHA:412069
HP:0000639	Nystagmus	220202	ATOH7	OMIM:221900
HP:0000639	Nystagmus	611	OPN1SW	ORPHA:88629
HP:0000639	Nystagmus	9725	TMEM63A	OMIM:618688
HP:0000639	Nystagmus	23636	NUP62	OMIM:271930
HP:0000639	Nystagmus	79718	TBL1XR1	OMIM:602342
HP:0000639	Nystagmus	79718	TBL1XR1	ORPHA:487825
HP:0000639	Nystagmus	54681	P4HTM	OMIM:618493
HP:0000639	Nystagmus	55714	TENM3	OMIM:615145
HP:0000639	Nystagmus	3149	HMGB3	OMIM:300915
HP:0000639	Nystagmus	23268	DNMBP	OMIM:618415
HP:0000639	Nystagmus	79583	TMEM231	ORPHA:2752
HP:0000639	Nystagmus	8218	CLTCL1	ORPHA:453510
HP:0010851	EEG with burst suppression	11212	PLPBP	OMIM:617290
HP:0010851	EEG with burst suppression	11212	PLPBP	ORPHA:3006
HP:0010851	EEG with burst suppression	199857	ALG14	OMIM:619036
HP:0010851	EEG with burst suppression	535	ATP6V0A1	OMIM:619971
HP:0010851	EEG with burst suppression	51422	PRKAG2	OMIM:261740
HP:0010851	EEG with burst suppression	23312	DMXL2	OMIM:618663
HP:0010851	EEG with burst suppression	23312	DMXL2	ORPHA:1934
HP:0010851	EEG with burst suppression	440	ASNS	OMIM:615574
HP:0010851	EEG with burst suppression	1020	CDK5	OMIM:616342
HP:0010851	EEG with burst suppression	6812	STXBP1	OMIM:612164
HP:0010851	EEG with burst suppression	94005	PIGS	OMIM:618143
HP:0010851	EEG with burst suppression	2775	GNAO1	OMIM:615473
HP:0010851	EEG with burst suppression	2775	GNAO1	ORPHA:1934
HP:0010851	EEG with burst suppression	3747	KCNC2	OMIM:619913
HP:0010851	EEG with burst suppression	3785	KCNQ2	ORPHA:439218
HP:0010851	EEG with burst suppression	3785	KCNQ2	OMIM:613720
HP:0010851	EEG with burst suppression	8818	DPM2	ORPHA:329178
HP:0010851	EEG with burst suppression	8452	CUL3	OMIM:619239
HP:0010851	EEG with burst suppression	26999	CYFIP2	OMIM:618008
HP:0010851	EEG with burst suppression	708	C1QBP	OMIM:617713
HP:0010851	EEG with burst suppression	2744	GLS	OMIM:618328
HP:0010851	EEG with burst suppression	79751	SLC25A22	OMIM:609304
HP:0010851	EEG with burst suppression	79751	SLC25A22	ORPHA:1934
HP:0010851	EEG with burst suppression	7841	MOGS	OMIM:606056
HP:0010851	EEG with burst suppression	170302	ARX	OMIM:308350
HP:0010851	EEG with burst suppression	170302	ARX	ORPHA:1934
HP:0010851	EEG with burst suppression	57176	VARS2	OMIM:615917
HP:0010851	EEG with burst suppression	501	ALDH7A1	ORPHA:3006
HP:0010851	EEG with burst suppression	501	ALDH7A1	OMIM:266100
HP:0010851	EEG with burst suppression	2258	FGF13	OMIM:301058
HP:0010851	EEG with burst suppression	7707	ZNF148	OMIM:617260
HP:0010851	EEG with burst suppression	2571	GAD1	OMIM:619124
HP:0010851	EEG with burst suppression	440138	ALG11	ORPHA:280071
HP:0010851	EEG with burst suppression	91137	SLC25A46	OMIM:619303
HP:0010851	EEG with burst suppression	51124	IER3IP1	OMIM:614231
HP:0010851	EEG with burst suppression	18	ABAT	OMIM:613163
HP:0010851	EEG with burst suppression	4905	NSF	OMIM:619340
HP:0010851	EEG with burst suppression	7358	UGDH	OMIM:618792
HP:0010851	EEG with burst suppression	1785	DNM2	OMIM:615368
HP:0010851	EEG with burst suppression	477	ATP1A2	OMIM:619605
HP:0010851	EEG with burst suppression	2782	GNB1	OMIM:616973
HP:0010851	EEG with burst suppression	221927	BRAT1	OMIM:614498
HP:0010851	EEG with burst suppression	55163	PNPO	ORPHA:79096
HP:0010851	EEG with burst suppression	10695	CNPY3	OMIM:617929
HP:0010851	EEG with burst suppression	5290	PIK3CA	ORPHA:99802
HP:0010851	EEG with burst suppression	2475	MTOR	ORPHA:99802
HP:0010851	EEG with burst suppression	10000	AKT3	ORPHA:99802
HP:0010851	EEG with burst suppression	6792	CDKL5	ORPHA:1934
HP:0010851	EEG with burst suppression	3736	KCNA1	ORPHA:1934
HP:0010851	EEG with burst suppression	9091	PIGQ	ORPHA:1934
HP:0010851	EEG with burst suppression	81603	TRIM8	ORPHA:1934
HP:0010851	EEG with burst suppression	2902	GRIN1	ORPHA:1934
HP:0010851	EEG with burst suppression	150094	SIK1	ORPHA:1934
HP:0010851	EEG with burst suppression	8573	CASK	ORPHA:1934
HP:0010851	EEG with burst suppression	2917	GRM7	ORPHA:1934
HP:0010851	EEG with burst suppression	11284	PNKP	ORPHA:1934
HP:0010851	EEG with burst suppression	6326	SCN2A	ORPHA:1934
HP:0010851	EEG with burst suppression	51227	PIGP	ORPHA:1934
HP:0010851	EEG with burst suppression	6324	SCN1B	ORPHA:1934
HP:0010851	EEG with burst suppression	4761	NEUROD2	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	401474	SAMD12	OMIM:601068
HP:0010850	EEG with spike-wave complexes	57465	TBC1D24	ORPHA:352596
HP:0010850	EEG with spike-wave complexes	56910	STARD7	OMIM:607876
HP:0010850	EEG with spike-wave complexes	2903	GRIN2A	ORPHA:1945
HP:0010850	EEG with spike-wave complexes	29968	PSAT1	ORPHA:284417
HP:0010850	EEG with spike-wave complexes	84992	PIGY	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	84720	PIGO	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	93210	PGAP3	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	284098	PIGW	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	27315	PGAP2	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	55650	PIGV	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	9487	PIGL	ORPHA:247262
HP:0010850	EEG with spike-wave complexes	1173	AP2M1	OMIM:618587
HP:0010850	EEG with spike-wave complexes	1173	AP2M1	ORPHA:1942
HP:0010850	EEG with spike-wave complexes	10297	APC2	OMIM:617169
HP:0010850	EEG with spike-wave complexes	3747	KCNC2	OMIM:619913
HP:0010850	EEG with spike-wave complexes	55689	YEATS2	OMIM:615127
HP:0010850	EEG with spike-wave complexes	7532	YWHAG	OMIM:617665
HP:0010850	EEG with spike-wave complexes	60482	SLC5A7	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	4649	MYO9A	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	1305	COL13A1	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	1103	CHAT	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	6576	SLC25A1	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	6843	VAMP1	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	375790	AGRN	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	127833	SYT2	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	6572	SLC18A3	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	6616	SNAP25	ORPHA:98914
HP:0010850	EEG with spike-wave complexes	2563	GABRD	ORPHA:307
HP:0010850	EEG with spike-wave complexes	1181	CLCN2	ORPHA:307
HP:0010850	EEG with spike-wave complexes	3786	KCNQ3	ORPHA:307
HP:0010850	EEG with spike-wave complexes	22858	CILK1	ORPHA:307
HP:0010850	EEG with spike-wave complexes	785	CACNB4	ORPHA:307
HP:0010850	EEG with spike-wave complexes	785	CACNB4	OMIM:607682
HP:0010850	EEG with spike-wave complexes	1476	CSTB	OMIM:254800
HP:0010850	EEG with spike-wave complexes	1476	CSTB	ORPHA:308
HP:0010850	EEG with spike-wave complexes	5290	PIK3CA	ORPHA:99802
HP:0010850	EEG with spike-wave complexes	2475	MTOR	ORPHA:99802
HP:0010850	EEG with spike-wave complexes	10000	AKT3	ORPHA:99802
HP:0010850	EEG with spike-wave complexes	9289	ADGRG1	ORPHA:98889
HP:0010850	EEG with spike-wave complexes	5297	PI4KA	ORPHA:98889
HP:0010850	EEG with spike-wave complexes	27286	SRPX2	ORPHA:98889
HP:0010850	EEG with spike-wave complexes	144165	PRICKLE1	ORPHA:308
HP:0010850	EEG with spike-wave complexes	950	SCARB2	ORPHA:308
HP:0010850	EEG with spike-wave complexes	8831	SYNGAP1	ORPHA:1942
HP:0010850	EEG with spike-wave complexes	340533	NEXMIF	ORPHA:1942
HP:0010850	EEG with spike-wave complexes	1106	CHD2	ORPHA:1942
HP:0010850	EEG with spike-wave complexes	6529	SLC6A1	ORPHA:1942
HP:0010850	EEG with spike-wave complexes	6513	SLC2A1	ORPHA:64280
HP:0010850	EEG with spike-wave complexes	2562	GABRB3	ORPHA:64280
HP:0010850	EEG with spike-wave complexes	2554	GABRA1	ORPHA:64280
HP:0010850	EEG with spike-wave complexes	8912	CACNA1H	ORPHA:64280
HP:0010850	EEG with spike-wave complexes	8629	JRK	ORPHA:64280
HP:0010850	EEG with spike-wave complexes	3737	KCNA2	OMIM:616366
HP:0010850	EEG with spike-wave complexes	23067	SETD1B	OMIM:619000
HP:0010850	EEG with spike-wave complexes	6323	SCN1A	OMIM:619317
HP:0010850	EEG with spike-wave complexes	3778	KCNMA1	OMIM:609446
HP:0010850	EEG with spike-wave complexes	3778	KCNMA1	ORPHA:79137
HP:0010850	EEG with spike-wave complexes	114327	EFHC1	OMIM:607631
HP:0010850	EEG with spike-wave complexes	2566	GABRG2	OMIM:607681
HP:0010850	EEG with spike-wave complexes	1203	CLN5	ORPHA:228360
HP:0010850	EEG with spike-wave complexes	6857	SYT1	ORPHA:522077
HP:0010850	EEG with spike-wave complexes	51604	PIGT	ORPHA:369837
HP:0010850	EEG with spike-wave complexes	10157	AASS	ORPHA:2203
HP:0010850	EEG with spike-wave complexes	6334	SCN8A	OMIM:614558
HP:0010850	EEG with spike-wave complexes	9570	GOSR2	OMIM:614018
HP:0010850	EEG with spike-wave complexes	57094	CPA6	OMIM:614417
HP:0010850	EEG with spike-wave complexes	5048	PAFAH1B1	ORPHA:95232
HP:0010850	EEG with spike-wave complexes	6792	CDKL5	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	3736	KCNA1	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	9091	PIGQ	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	2775	GNAO1	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	81603	TRIM8	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	2902	GRIN1	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	79751	SLC25A22	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	150094	SIK1	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	8573	CASK	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	23312	DMXL2	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	2917	GRM7	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	170302	ARX	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	11284	PNKP	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	6326	SCN2A	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	6326	SCN2A	ORPHA:36387
HP:0010850	EEG with spike-wave complexes	51227	PIGP	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	6324	SCN1B	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	6324	SCN1B	ORPHA:36387
HP:0010850	EEG with spike-wave complexes	4761	NEUROD2	ORPHA:1934
HP:0010850	EEG with spike-wave complexes	6335	SCN9A	ORPHA:36387
HP:0010850	EEG with spike-wave complexes	112755	STX1B	ORPHA:36387
HP:0010850	EEG with spike-wave complexes	348980	HCN1	ORPHA:36387
HP:0010850	EEG with spike-wave complexes	84059	ADGRV1	ORPHA:36387
HP:0010853	EEG with periodic lateralized epileptiform discharges	79587	CARS2	ORPHA:477774
HP:0007800	Increased axial length of the globe	29894	CPSF1	OMIM:618827
HP:0007800	Increased axial length of the globe	80232	WDR26	ORPHA:513456
HP:0007800	Increased axial length of the globe	2200	FBN1	OMIM:154700
HP:0007800	Increased axial length of the globe	4043	LRPAP1	OMIM:615431
HP:0007802	Granular corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007802	Granular corneal dystrophy	7045	TGFBI	ORPHA:98963
HP:0007803	Monochromacy	22926	ATF6	ORPHA:49382
HP:0007803	Monochromacy	5146	PDE6C	ORPHA:49382
HP:0007803	Monochromacy	6103	RPGR	ORPHA:49382
HP:0007803	Monochromacy	5149	PDE6H	ORPHA:49382
HP:0007803	Monochromacy	2780	GNAT2	ORPHA:49382
HP:0007803	Monochromacy	1261	CNGA3	ORPHA:49382
HP:0007803	Monochromacy	54714	CNGB3	ORPHA:49382
HP:0007803	Monochromacy	54714	CNGB3	OMIM:262300
HP:0007803	Monochromacy	26504	CNNM4	OMIM:217080
HP:0007803	Monochromacy	2652	OPN1MW	ORPHA:16
HP:0007803	Monochromacy	2652	OPN1MW	OMIM:303700
HP:0007803	Monochromacy	5956	OPN1LW	ORPHA:16
HP:0007803	Monochromacy	5956	OPN1LW	OMIM:303700
HP:0007803	Monochromacy	51594	NBAS	OMIM:614800
HP:0000640	Gaze-evoked nystagmus	4287	ATXN3	OMIM:109150
HP:0000640	Gaze-evoked nystagmus	4287	ATXN3	ORPHA:276244
HP:0000640	Gaze-evoked nystagmus	4287	ATXN3	ORPHA:276241
HP:0000640	Gaze-evoked nystagmus	4287	ATXN3	ORPHA:276238
HP:0000640	Gaze-evoked nystagmus	5393	EXOSC9	OMIM:618065
HP:0000640	Gaze-evoked nystagmus	23533	PIK3R5	ORPHA:64753
HP:0000640	Gaze-evoked nystagmus	23064	SETX	ORPHA:64753
HP:0000640	Gaze-evoked nystagmus	23064	SETX	OMIM:606002
HP:0000640	Gaze-evoked nystagmus	4361	MRE11	ORPHA:251347
HP:0000640	Gaze-evoked nystagmus	4361	MRE11	OMIM:604391
HP:0000640	Gaze-evoked nystagmus	6334	SCN8A	OMIM:614306
HP:0000640	Gaze-evoked nystagmus	785	CACNB4	OMIM:613855
HP:0000640	Gaze-evoked nystagmus	785	CACNB4	ORPHA:211067
HP:0000640	Gaze-evoked nystagmus	27235	COQ2	ORPHA:227510
HP:0000640	Gaze-evoked nystagmus	27235	COQ2	OMIM:146500
HP:0000640	Gaze-evoked nystagmus	27235	COQ2	ORPHA:98933
HP:0000640	Gaze-evoked nystagmus	55775	TDP1	ORPHA:94124
HP:0000640	Gaze-evoked nystagmus	5582	PRKCG	ORPHA:98763
HP:0000640	Gaze-evoked nystagmus	6507	SLC1A3	ORPHA:209967
HP:0000640	Gaze-evoked nystagmus	80781	COL18A1	OMIM:267750
HP:0000640	Gaze-evoked nystagmus	25814	ATXN10	ORPHA:98761
HP:0000640	Gaze-evoked nystagmus	55187	VPS13D	OMIM:607317
HP:0000640	Gaze-evoked nystagmus	6311	ATXN2	OMIM:183090
HP:0000640	Gaze-evoked nystagmus	219285	SAMD9L	OMIM:619806
HP:0000640	Gaze-evoked nystagmus	80208	SPG11	OMIM:604360
HP:0000640	Gaze-evoked nystagmus	2895	GRID2	ORPHA:363432
HP:0000640	Gaze-evoked nystagmus	7345	UCHL1	OMIM:615491
HP:0000640	Gaze-evoked nystagmus	6389	SDHA	OMIM:619259
HP:0000640	Gaze-evoked nystagmus	10273	STUB1	ORPHA:412057
HP:0000640	Gaze-evoked nystagmus	51741	WWOX	OMIM:614322
HP:0000640	Gaze-evoked nystagmus	7436	VLDLR	OMIM:224050
HP:0000640	Gaze-evoked nystagmus	54834	GDAP2	OMIM:618369
HP:0000640	Gaze-evoked nystagmus	10939	AFG3L2	OMIM:610246
HP:0000640	Gaze-evoked nystagmus	23203	PMPCA	OMIM:213200
HP:0000640	Gaze-evoked nystagmus	23203	PMPCA	ORPHA:1170
HP:0000640	Gaze-evoked nystagmus	6712	SPTBN2	OMIM:600224
HP:0000640	Gaze-evoked nystagmus	10935	PRDX3	OMIM:619862
HP:0000640	Gaze-evoked nystagmus	54664	TMEM106B	OMIM:617964
HP:0000640	Gaze-evoked nystagmus	51271	UBAP1	OMIM:618418
HP:0000640	Gaze-evoked nystagmus	5981	RFC1	OMIM:614575
HP:0000640	Gaze-evoked nystagmus	54840	APTX	OMIM:208920
HP:0000640	Gaze-evoked nystagmus	6908	TBP	OMIM:607136
HP:0000640	Gaze-evoked nystagmus	6310	ATXN1	OMIM:164400
HP:0000640	Gaze-evoked nystagmus	55703	POLR3B	OMIM:607694
HP:0000640	Gaze-evoked nystagmus	11128	POLR3A	OMIM:607694
HP:0000640	Gaze-evoked nystagmus	3708	ITPR1	OMIM:606658
HP:0000640	Gaze-evoked nystagmus	5934	RBL2	OMIM:619690
HP:0000640	Gaze-evoked nystagmus	773	CACNA1A	OMIM:183086
HP:0000640	Gaze-evoked nystagmus	773	CACNA1A	ORPHA:98758
HP:0000640	Gaze-evoked nystagmus	773	CACNA1A	ORPHA:569
HP:0000640	Gaze-evoked nystagmus	2643	GCH1	OMIM:128230
HP:0000640	Gaze-evoked nystagmus	26278	SACS	ORPHA:98
HP:0000640	Gaze-evoked nystagmus	6658	SOX3	ORPHA:67045
HP:0000640	Gaze-evoked nystagmus	146227	BEAN1	OMIM:117210
HP:0000640	Gaze-evoked nystagmus	255928	SYT14	ORPHA:284271
HP:0000640	Gaze-evoked nystagmus	255928	SYT14	OMIM:614229
HP:0000640	Gaze-evoked nystagmus	8913	CACNA1G	ORPHA:458803
HP:0000640	Gaze-evoked nystagmus	131669	UROC1	ORPHA:210128
HP:0000640	Gaze-evoked nystagmus	5081	PAX7	OMIM:618578
HP:0000640	Gaze-evoked nystagmus	54974	THG1L	OMIM:618800
HP:0000640	Gaze-evoked nystagmus	2911	GRM1	OMIM:614831
HP:0000640	Gaze-evoked nystagmus	2911	GRM1	ORPHA:324262
HP:0000640	Gaze-evoked nystagmus	3752	KCND3	OMIM:607346
HP:0000640	Gaze-evoked nystagmus	112476	PRRT2	ORPHA:569
HP:0000640	Gaze-evoked nystagmus	6323	SCN1A	ORPHA:569
HP:0000640	Gaze-evoked nystagmus	477	ATP1A2	ORPHA:569
HP:0000640	Gaze-evoked nystagmus	2259	FGF14	OMIM:620174
HP:0000641	Dysmetric saccades	1200	TPP1	ORPHA:284324
HP:0000641	Dysmetric saccades	3708	ITPR1	OMIM:606658
HP:0000641	Dysmetric saccades	343641	TGM6	ORPHA:276193
HP:0000641	Dysmetric saccades	55129	ANO10	ORPHA:284289
HP:0000641	Dysmetric saccades	724066	ATXN8	OMIM:608768
HP:0000641	Dysmetric saccades	6315	ATXN8OS	OMIM:608768
HP:0000641	Dysmetric saccades	4287	ATXN3	OMIM:109150
HP:0000641	Dysmetric saccades	1938	EEF2	OMIM:609306
HP:0000641	Dysmetric saccades	1938	EEF2	ORPHA:101112
HP:0000641	Dysmetric saccades	6311	ATXN2	OMIM:183090
HP:0000641	Dysmetric saccades	51271	UBAP1	OMIM:618418
HP:0000641	Dysmetric saccades	5192	PEX10	OMIM:614871
HP:0000641	Dysmetric saccades	4361	MRE11	ORPHA:251347
HP:0000641	Dysmetric saccades	5173	PDYN	OMIM:610245
HP:0000641	Dysmetric saccades	10939	AFG3L2	OMIM:610246
HP:0000641	Dysmetric saccades	57410	SCYL1	ORPHA:466794
HP:0000641	Dysmetric saccades	9927	MFN2	OMIM:601152
HP:0000641	Dysmetric saccades	6310	ATXN1	OMIM:164400
HP:0000641	Dysmetric saccades	6712	SPTBN2	ORPHA:352403
HP:0000642	Red-green dyschromatopsia	10002	NR2E3	OMIM:611131
HP:0000642	Red-green dyschromatopsia	256471	MFSD8	OMIM:616170
HP:0000642	Red-green dyschromatopsia	4976	OPA1	OMIM:125250
HP:0000642	Red-green dyschromatopsia	4976	OPA1	OMIM:165500
HP:0000642	Red-green dyschromatopsia	114902	C1QTNF5	ORPHA:67042
HP:0000642	Red-green dyschromatopsia	50	ACO2	OMIM:616289
HP:0000642	Red-green dyschromatopsia	80207	OPA3	ORPHA:67036
HP:0000642	Red-green dyschromatopsia	2259	FGF14	ORPHA:98764
HP:0000642	Red-green dyschromatopsia	2652	OPN1MW	OMIM:303800
HP:0000642	Red-green dyschromatopsia	5956	OPN1LW	OMIM:303900
HP:0000643	Blepharospasm	57167	SALL4	ORPHA:233
HP:0000643	Blepharospasm	9935	MAFB	ORPHA:233
HP:0000643	Blepharospasm	1123	CHN1	ORPHA:233
HP:0000643	Blepharospasm	7291	TWIST1	ORPHA:794
HP:0000643	Blepharospasm	2263	FGFR2	ORPHA:794
HP:0000643	Blepharospasm	2261	FGFR3	ORPHA:794
HP:0000643	Blepharospasm	1816	DRD5	OMIM:606798
HP:0000643	Blepharospasm	2512	FTL	OMIM:606159
HP:0000643	Blepharospasm	2512	FTL	ORPHA:157846
HP:0000643	Blepharospasm	63982	ANO3	OMIM:615034
HP:0000643	Blepharospasm	63982	ANO3	ORPHA:420485
HP:0000643	Blepharospasm	4137	MAPT	ORPHA:240071
HP:0000643	Blepharospasm	4137	MAPT	ORPHA:240094
HP:0000643	Blepharospasm	1356	CP	OMIM:604290
HP:0000643	Blepharospasm	1356	CP	ORPHA:48818
HP:0000643	Blepharospasm	10382	TUBB4A	ORPHA:98805
HP:0000643	Blepharospasm	55145	THAP1	ORPHA:98806
HP:0000643	Blepharospasm	10815	CPLX1	ORPHA:352582
HP:0000643	Blepharospasm	57465	TBC1D24	ORPHA:352582
HP:0000643	Blepharospasm	6872	TAF1	ORPHA:53351
HP:0000643	Blepharospasm	80025	PANK2	OMIM:234200
HP:0000643	Blepharospasm	3339	HSPG2	ORPHA:800
HP:0000643	Blepharospasm	3208	HPCA	ORPHA:99657
HP:0000643	Blepharospasm	3208	HPCA	OMIM:224500
HP:0000643	Blepharospasm	1822	ATN1	ORPHA:101
HP:0000643	Blepharospasm	84172	POLR1B	ORPHA:861
HP:0000643	Blepharospasm	9533	POLR1C	ORPHA:861
HP:0000643	Blepharospasm	51082	POLR1D	ORPHA:861
HP:0000643	Blepharospasm	6949	TCOF1	ORPHA:861
HP:0000643	Blepharospasm	51102	MECR	OMIM:617282
HP:0000643	Blepharospasm	56910	STARD7	OMIM:607876
HP:0000643	Blepharospasm	11315	PARK7	OMIM:606324
HP:0000643	Blepharospasm	79734	KCTD17	OMIM:616398
HP:0000643	Blepharospasm	23400	ATP13A2	ORPHA:306674
HP:0000643	Blepharospasm	23230	VPS13A	ORPHA:2388
HP:0000643	Blepharospasm	16	AARS1	OMIM:616339
HP:0000643	Blepharospasm	1644	DDC	OMIM:608643
HP:0000643	Blepharospasm	773	CACNA1A	ORPHA:98758
HP:0000643	Blepharospasm	1861	TOR1A	OMIM:128100
HP:0000643	Blepharospasm	6908	TBP	ORPHA:98759
HP:0000646	Amblyopia	64132	XYLT2	OMIM:605822
HP:0000646	Amblyopia	7291	TWIST1	ORPHA:794
HP:0000646	Amblyopia	2263	FGFR2	ORPHA:794
HP:0000646	Amblyopia	2263	FGFR2	ORPHA:93260
HP:0000646	Amblyopia	2263	FGFR2	ORPHA:207
HP:0000646	Amblyopia	2261	FGFR3	ORPHA:794
HP:0000646	Amblyopia	2261	FGFR3	OMIM:602849
HP:0000646	Amblyopia	6095	RORA	OMIM:618060
HP:0000646	Amblyopia	22827	PUF60	ORPHA:508498
HP:0000646	Amblyopia	1409	CRYAA	OMIM:604219
HP:0000646	Amblyopia	261734	NPHP4	OMIM:606996
HP:0000646	Amblyopia	875	CBS	ORPHA:394
HP:0000646	Amblyopia	23394	ADNP	ORPHA:404448
HP:0000646	Amblyopia	9759	HDAC4	OMIM:619797
HP:0000646	Amblyopia	8473	OGT	OMIM:300997
HP:0000646	Amblyopia	2200	FBN1	ORPHA:1885
HP:0000646	Amblyopia	54507	ADAMTSL4	ORPHA:1885
HP:0000646	Amblyopia	6334	SCN8A	OMIM:614306
HP:0000646	Amblyopia	22800	RRAS2	OMIM:618624
HP:0000646	Amblyopia	3008	H1-4	OMIM:617537
HP:0000646	Amblyopia	10992	SF3B2	OMIM:164210
HP:0000646	Amblyopia	4693	NDP	ORPHA:91495
HP:0000646	Amblyopia	220202	ATOH7	ORPHA:91495
HP:0000646	Amblyopia	8322	FZD4	ORPHA:91495
HP:0000646	Amblyopia	118987	PDZD8	OMIM:620021
HP:0000646	Amblyopia	84570	COL25A1	ORPHA:91411
HP:0000646	Amblyopia	79776	ZFHX4	ORPHA:91411
HP:0000646	Amblyopia	27125	AFF4	ORPHA:444077
HP:0000646	Amblyopia	4784	NFIX	ORPHA:447980
HP:0000646	Amblyopia	80232	WDR26	ORPHA:513456
HP:0000646	Amblyopia	80232	WDR26	OMIM:617616
HP:0000646	Amblyopia	9578	CDC42BPB	OMIM:619841
HP:0000646	Amblyopia	26610	ELP4	OMIM:617141
HP:0000646	Amblyopia	51506	UFC1	OMIM:618076
HP:0000646	Amblyopia	10730	YME1L1	OMIM:617302
HP:0000646	Amblyopia	6595	SMARCA2	ORPHA:2728
HP:0000646	Amblyopia	3781	KCNN2	OMIM:619724
HP:0000646	Amblyopia	23431	AP4E1	OMIM:613744
HP:0000646	Amblyopia	23431	AP4E1	ORPHA:280763
HP:0000646	Amblyopia	4952	OCRL	ORPHA:534
HP:0000646	Amblyopia	1185	CLCN6	OMIM:619173
HP:0000646	Amblyopia	5080	PAX6	ORPHA:35737
HP:0000646	Amblyopia	57589	RIC1	OMIM:618761
HP:0000646	Amblyopia	10381	TUBB3	OMIM:600638
HP:0000646	Amblyopia	92255	LMBRD2	OMIM:619694
HP:0000646	Amblyopia	10352	WARS2	OMIM:617710
HP:0000646	Amblyopia	10352	WARS2	ORPHA:572798
HP:0000646	Amblyopia	2058	EPRS1	OMIM:617951
HP:0000646	Amblyopia	81857	MED25	ORPHA:464738
HP:0000646	Amblyopia	708	C1QBP	OMIM:617713
HP:0000646	Amblyopia	1201	CLN3	ORPHA:228346
HP:0000646	Amblyopia	2077	ERF	ORPHA:207
HP:0000646	Amblyopia	646960	PRSS56	OMIM:613517
HP:0000646	Amblyopia	128989	TANGO2	ORPHA:480864
HP:0000646	Amblyopia	54539	NDUFB11	ORPHA:2556
HP:0000646	Amblyopia	1349	COX7B	ORPHA:2556
HP:0000646	Amblyopia	3052	HCCS	ORPHA:2556
HP:0000646	Amblyopia	9241	NOG	OMIM:186500
HP:0000646	Amblyopia	1420	CRYGC	OMIM:604307
HP:0000646	Amblyopia	6899	TBX1	OMIM:188400
HP:0000646	Amblyopia	1301	COL11A1	ORPHA:560
HP:0000646	Amblyopia	1301	COL11A1	ORPHA:250984
HP:0000646	Amblyopia	164	AP1G1	OMIM:619467
HP:0000646	Amblyopia	54681	P4HTM	OMIM:618493
HP:0000646	Amblyopia	57178	ZMIZ1	OMIM:618659
HP:0000646	Amblyopia	23268	DNMBP	OMIM:618415
HP:0000646	Amblyopia	57167	SALL4	ORPHA:233
HP:0000646	Amblyopia	9935	MAFB	ORPHA:233
HP:0000646	Amblyopia	1123	CHN1	ORPHA:233
HP:0000646	Amblyopia	1123	CHN1	OMIM:604356
HP:0000646	Amblyopia	401	PHOX2A	OMIM:602078
HP:0000646	Amblyopia	7025	NR2F1	ORPHA:401777
HP:0000646	Amblyopia	84265	POLR3GL	OMIM:619234
HP:0000646	Amblyopia	23347	SMCHD1	ORPHA:2250
HP:0000646	Amblyopia	6608	SMO	OMIM:601707
HP:0000646	Amblyopia	3982	LIM2	OMIM:615277
HP:0000646	Amblyopia	10367	MICU1	OMIM:615673
HP:0000646	Amblyopia	8364	H4C3	OMIM:619758
HP:0000646	Amblyopia	1282	COL4A1	OMIM:175780
HP:0000646	Amblyopia	8085	KMT2D	OMIM:620186
HP:0000646	Amblyopia	1859	DYRK1A	ORPHA:464311
HP:0000646	Amblyopia	23556	PIGN	ORPHA:280633
HP:0000646	Amblyopia	23556	PIGN	OMIM:614080
HP:0000646	Amblyopia	55617	TASP1	OMIM:618950
HP:0000646	Amblyopia	7204	TRIO	ORPHA:476126
HP:0000646	Amblyopia	79803	HPS6	OMIM:614075
HP:0000646	Amblyopia	284217	LAMA1	OMIM:615960
HP:0000646	Amblyopia	284217	LAMA1	ORPHA:370022
HP:0000646	Amblyopia	3832	KIF11	ORPHA:2526
HP:0000646	Amblyopia	51085	MLXIPL	OMIM:194050
HP:0000646	Amblyopia	2006	ELN	OMIM:194050
HP:0000646	Amblyopia	668	FOXL2	ORPHA:572333
HP:0000646	Amblyopia	2658	GDF2	ORPHA:774
HP:0000646	Amblyopia	94	ACVRL1	ORPHA:774
HP:0000646	Amblyopia	4089	SMAD4	ORPHA:774
HP:0000646	Amblyopia	2022	ENG	ORPHA:774
HP:0000646	Amblyopia	51322	WAC	ORPHA:284169
HP:0000646	Amblyopia	10717	AP4B1	ORPHA:280763
HP:0000646	Amblyopia	9179	AP4M1	ORPHA:280763
HP:0000646	Amblyopia	11154	AP4S1	ORPHA:280763
HP:0000646	Amblyopia	5308	PITX2	OMIM:180550
HP:0000646	Amblyopia	7030	TFE3	OMIM:301066
HP:0000646	Amblyopia	4935	GPR143	OMIM:300814
HP:0000646	Amblyopia	55084	SOBP	OMIM:613671
HP:0000646	Amblyopia	57479	PRR12	OMIM:619539
HP:0000646	Amblyopia	7994	KAT6A	OMIM:616268
HP:0000646	Amblyopia	2316	FLNA	ORPHA:1826
HP:0000646	Amblyopia	6885	MAP3K7	ORPHA:1826
HP:0000646	Amblyopia	9469	CHST3	OMIM:245600
HP:0000646	Amblyopia	26229	B3GAT3	OMIM:245600
HP:0000646	Amblyopia	1804	DPP6	OMIM:616311
HP:0000646	Amblyopia	9181	ARHGEF2	OMIM:617523
HP:0000646	Amblyopia	1297	COL9A1	ORPHA:250984
HP:0000646	Amblyopia	1298	COL9A2	ORPHA:250984
HP:0000646	Amblyopia	1299	COL9A3	ORPHA:250984
HP:0000646	Amblyopia	84695	LOXL3	ORPHA:250984
HP:0000646	Amblyopia	1414	CRYBB1	OMIM:611544
HP:0000646	Amblyopia	4771	NF2	ORPHA:637
HP:0000646	Amblyopia	6935	ZEB1	ORPHA:98973
HP:0000646	Amblyopia	30813	VSX1	ORPHA:98973
HP:0000646	Amblyopia	58495	OVOL2	ORPHA:98973
HP:0000646	Amblyopia	79977	GRHL2	ORPHA:98973
HP:0000646	Amblyopia	1296	COL8A2	ORPHA:98973
HP:0000647	Sclerocornea	7837	PXDN	OMIM:269400
HP:0000647	Sclerocornea	11081	KERA	OMIM:217300
HP:0000647	Sclerocornea	6657	SOX2	ORPHA:77298
HP:0000647	Sclerocornea	6657	SOX2	OMIM:206900
HP:0000647	Sclerocornea	652	BMP4	ORPHA:139471
HP:0000647	Sclerocornea	652	BMP4	OMIM:607932
HP:0000647	Sclerocornea	29957	SLC25A24	ORPHA:2095
HP:0000647	Sclerocornea	1349	COX7B	OMIM:309801
HP:0000647	Sclerocornea	1349	COX7B	ORPHA:2556
HP:0000647	Sclerocornea	3052	HCCS	OMIM:309801
HP:0000647	Sclerocornea	3052	HCCS	ORPHA:2556
HP:0000647	Sclerocornea	54539	NDUFB11	OMIM:309801
HP:0000647	Sclerocornea	54539	NDUFB11	OMIM:300952
HP:0000647	Sclerocornea	54539	NDUFB11	ORPHA:2556
HP:0000647	Sclerocornea	2301	FOXE3	ORPHA:83461
HP:0000647	Sclerocornea	2301	FOXE3	OMIM:610256
HP:0000647	Sclerocornea	30062	RAX	OMIM:611038
HP:0000647	Sclerocornea	10586	MAB21L2	OMIM:615877
HP:0000647	Sclerocornea	1063	CENPF	OMIM:243605
HP:0000647	Sclerocornea	3166	HMX1	OMIM:612109
HP:0000647	Sclerocornea	4693	NDP	ORPHA:649
HP:0000647	Sclerocornea	126792	B3GALT6	OMIM:609465
HP:0000647	Sclerocornea	9896	FIG4	OMIM:216340
HP:0000647	Sclerocornea	9896	FIG4	ORPHA:3472
HP:0000647	Sclerocornea	5080	PAX6	OMIM:604229
HP:0000647	Sclerocornea	84314	TMEM107	ORPHA:564
HP:0000647	Sclerocornea	26123	TCTN3	ORPHA:564
HP:0000647	Sclerocornea	79867	TCTN2	ORPHA:564
HP:0000647	Sclerocornea	80776	B9D2	ORPHA:564
HP:0000647	Sclerocornea	79600	TCTN1	ORPHA:564
HP:0000647	Sclerocornea	57096	RPGRIP1	ORPHA:564
HP:0000647	Sclerocornea	79848	CSPP1	ORPHA:564
HP:0000647	Sclerocornea	80184	CEP290	ORPHA:564
HP:0000647	Sclerocornea	51259	TMEM216	ORPHA:564
HP:0000647	Sclerocornea	57545	CC2D2A	ORPHA:564
HP:0000647	Sclerocornea	79583	TMEM231	ORPHA:564
HP:0000647	Sclerocornea	91147	TMEM67	ORPHA:564
HP:0000647	Sclerocornea	79770	TXNDC15	ORPHA:564
HP:0000647	Sclerocornea	27077	B9D1	ORPHA:564
HP:0000647	Sclerocornea	23322	RPGRIP1L	ORPHA:564
HP:0000647	Sclerocornea	54903	MKS1	ORPHA:564
HP:0000647	Sclerocornea	65062	TMEM237	ORPHA:564
HP:0000647	Sclerocornea	6899	TBX1	OMIM:188400
HP:0000647	Sclerocornea	55697	VAC14	ORPHA:3472
HP:0000647	Sclerocornea	10815	CPLX1	ORPHA:280
HP:0000647	Sclerocornea	54872	PIGG	ORPHA:280
HP:0000647	Sclerocornea	7469	NELFA	ORPHA:280
HP:0000647	Sclerocornea	1487	CTBP1	ORPHA:280
HP:0000647	Sclerocornea	3954	LETM1	ORPHA:280
HP:0000647	Sclerocornea	7468	NSD2	ORPHA:280
HP:0000647	Sclerocornea	11107	PRDM5	OMIM:614170
HP:0000647	Sclerocornea	91179	SCARF2	OMIM:600920
HP:0000647	Sclerocornea	55714	TENM3	OMIM:615145
HP:0000647	Sclerocornea	8550	MAPKAPK5	OMIM:619869
HP:0000647	Sclerocornea	2260	FGFR1	OMIM:613001
HP:0000647	Sclerocornea	1717	DHCR7	ORPHA:818
HP:0000647	Sclerocornea	4990	SIX6	OMIM:206900
HP:0000649	Abnormality of visual evoked potentials	1203	CLN5	ORPHA:228360
HP:0000649	Abnormality of visual evoked potentials	2074	ERCC6	OMIM:133540
HP:0000649	Abnormality of visual evoked potentials	410	ARSA	ORPHA:309271
HP:0000649	Abnormality of visual evoked potentials	410	ARSA	ORPHA:309256
HP:0000649	Abnormality of visual evoked potentials	410	ARSA	ORPHA:309263
HP:0000649	Abnormality of visual evoked potentials	5660	PSAP	ORPHA:309271
HP:0000649	Abnormality of visual evoked potentials	5660	PSAP	ORPHA:309256
HP:0000649	Abnormality of visual evoked potentials	5660	PSAP	ORPHA:206436
HP:0000649	Abnormality of visual evoked potentials	5660	PSAP	ORPHA:309263
HP:0000649	Abnormality of visual evoked potentials	51102	MECR	ORPHA:508093
HP:0000649	Abnormality of visual evoked potentials	57165	GJC2	ORPHA:320401
HP:0000649	Abnormality of visual evoked potentials	23126	POGZ	OMIM:616364
HP:0000649	Abnormality of visual evoked potentials	2395	FXN	OMIM:229300
HP:0000649	Abnormality of visual evoked potentials	1593	CYP27A1	ORPHA:909
HP:0000649	Abnormality of visual evoked potentials	8842	PROM1	ORPHA:827
HP:0000649	Abnormality of visual evoked potentials	5961	PRPH2	ORPHA:827
HP:0000649	Abnormality of visual evoked potentials	6785	ELOVL4	ORPHA:827
HP:0000649	Abnormality of visual evoked potentials	6785	ELOVL4	OMIM:614457
HP:0000649	Abnormality of visual evoked potentials	24	ABCA4	ORPHA:827
HP:0000649	Abnormality of visual evoked potentials	54714	CNGB3	ORPHA:827
HP:0000649	Abnormality of visual evoked potentials	5428	POLG	OMIM:203700
HP:0000649	Abnormality of visual evoked potentials	79751	SLC25A22	OMIM:609304
HP:0000649	Abnormality of visual evoked potentials	8398	PLA2G6	ORPHA:35069
HP:0000649	Abnormality of visual evoked potentials	8398	PLA2G6	OMIM:256600
HP:0000649	Abnormality of visual evoked potentials	51	ACOX1	ORPHA:2971
HP:0000649	Abnormality of visual evoked potentials	22930	RAB3GAP1	ORPHA:2510
HP:0000649	Abnormality of visual evoked potentials	25782	RAB3GAP2	ORPHA:2510
HP:0000649	Abnormality of visual evoked potentials	22931	RAB18	ORPHA:2510
HP:0000649	Abnormality of visual evoked potentials	128637	TBC1D20	ORPHA:2510
HP:0000649	Abnormality of visual evoked potentials	8086	AAAS	OMIM:231550
HP:0000649	Abnormality of visual evoked potentials	10312	TCIRG1	ORPHA:667
HP:0000649	Abnormality of visual evoked potentials	1186	CLCN7	ORPHA:667
HP:0000649	Abnormality of visual evoked potentials	29887	SNX10	ORPHA:667
HP:0000649	Abnormality of visual evoked potentials	8600	TNFSF11	ORPHA:667
HP:0000649	Abnormality of visual evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0000649	Abnormality of visual evoked potentials	7274	TTPA	ORPHA:96
HP:0000649	Abnormality of visual evoked potentials	10397	NDRG1	OMIM:601455
HP:0000649	Abnormality of visual evoked potentials	56947	MFF	ORPHA:485421
HP:0000649	Abnormality of visual evoked potentials	23065	EMC1	OMIM:616875
HP:0000649	Abnormality of visual evoked potentials	23065	EMC1	ORPHA:480898
HP:0000649	Abnormality of visual evoked potentials	9181	ARHGEF2	OMIM:617523
HP:0000649	Abnormality of visual evoked potentials	7841	MOGS	ORPHA:79330
HP:0000649	Abnormality of visual evoked potentials	7299	TYR	ORPHA:79431
HP:0000649	Abnormality of visual evoked potentials	1161	ERCC8	OMIM:216400
HP:0000649	Abnormality of visual evoked potentials	9927	MFN2	OMIM:601152
HP:0000649	Abnormality of visual evoked potentials	8803	SUCLA2	ORPHA:1933
HP:0000649	Abnormality of visual evoked potentials	3908	LAMA2	ORPHA:258
HP:0000649	Abnormality of visual evoked potentials	4854	NOTCH3	OMIM:125310
HP:0000649	Abnormality of visual evoked potentials	4976	OPA1	OMIM:125250
HP:0000649	Abnormality of visual evoked potentials	4976	OPA1	OMIM:165500
HP:0000649	Abnormality of visual evoked potentials	49855	SCAPER	OMIM:618195
HP:0000649	Abnormality of visual evoked potentials	6310	ATXN1	ORPHA:98755
HP:0000649	Abnormality of visual evoked potentials	2581	GALC	OMIM:245200
HP:0000649	Abnormality of visual evoked potentials	51109	RDH11	ORPHA:436245
HP:0000649	Abnormality of visual evoked potentials	4724	NDUFS4	OMIM:252010
HP:0000649	Abnormality of visual evoked potentials	1340	COX6B1	OMIM:619051
HP:0000649	Abnormality of visual evoked potentials	5631	PRPS1	ORPHA:423479
HP:0000649	Abnormality of visual evoked potentials	57107	PDSS2	ORPHA:255249
HP:0000649	Abnormality of visual evoked potentials	27235	COQ2	ORPHA:255249
HP:0000649	Abnormality of visual evoked potentials	478	ATP1A3	OMIM:601338
HP:0000649	Abnormality of visual evoked potentials	9326	ZNHIT3	OMIM:260565
HP:0000649	Abnormality of visual evoked potentials	9526	MPDU1	ORPHA:79323
HP:0000649	Abnormality of visual evoked potentials	28962	OSTM1	OMIM:259720
HP:0000649	Abnormality of visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0000649	Abnormality of visual evoked potentials	80208	SPG11	ORPHA:2822
HP:0000649	Abnormality of visual evoked potentials	10059	DNM1L	OMIM:610708
HP:0000649	Abnormality of visual evoked potentials	2055	CLN8	ORPHA:1947
HP:0000649	Abnormality of visual evoked potentials	10283	CWC27	ORPHA:166035
HP:0010862	Delayed fine motor development	1802	DPH2	OMIM:620062
HP:0010862	Delayed fine motor development	11113	CIT	OMIM:617090
HP:0010862	Delayed fine motor development	50801	KCNK4	OMIM:618381
HP:0010862	Delayed fine motor development	253738	EBF3	OMIM:617330
HP:0010862	Delayed fine motor development	1186	CLCN7	OMIM:618541
HP:0010862	Delayed fine motor development	8812	CCNK	OMIM:618147
HP:0010862	Delayed fine motor development	1182	CLCN3	OMIM:619512
HP:0010862	Delayed fine motor development	1182	CLCN3	OMIM:619517
HP:0010862	Delayed fine motor development	7862	BRPF1	OMIM:617333
HP:0010862	Delayed fine motor development	160418	TMTC3	OMIM:617255
HP:0010862	Delayed fine motor development	6711	SPTBN1	OMIM:619475
HP:0010862	Delayed fine motor development	26053	AUTS2	OMIM:615834
HP:0010862	Delayed fine motor development	4774	NFIA	OMIM:613735
HP:0010862	Delayed fine motor development	3708	ITPR1	ORPHA:208513
HP:0010862	Delayed fine motor development	5447	POR	ORPHA:95699
HP:0010862	Delayed fine motor development	1303	COL12A1	ORPHA:536516
HP:0010862	Delayed fine motor development	9871	SEC24D	OMIM:616294
HP:0010862	Delayed fine motor development	122553	TRAPPC6B	OMIM:617862
HP:0010862	Delayed fine motor development	116461	TSEN15	OMIM:617026
HP:0010862	Delayed fine motor development	10978	CLP1	ORPHA:411493
HP:0010862	Delayed fine motor development	2232	FDXR	ORPHA:543470
HP:0010862	Delayed fine motor development	23112	TNRC6B	OMIM:619243
HP:0010862	Delayed fine motor development	23030	KDM4B	OMIM:619320
HP:0010862	Delayed fine motor development	4849	CNOT3	OMIM:618672
HP:0010862	Delayed fine motor development	2890	GRIA1	OMIM:619927
HP:0010862	Delayed fine motor development	2890	GRIA1	OMIM:619931
HP:0010862	Delayed fine motor development	200424	TET3	OMIM:618798
HP:0010862	Delayed fine motor development	10297	APC2	OMIM:618677
HP:0010862	Delayed fine motor development	79971	WLS	OMIM:619648
HP:0010862	Delayed fine motor development	9562	MINPP1	OMIM:619527
HP:0010862	Delayed fine motor development	57231	SNX14	ORPHA:397709
HP:0010862	Delayed fine motor development	57231	SNX14	OMIM:616354
HP:0010862	Delayed fine motor development	8913	CACNA1G	OMIM:618087
HP:0010862	Delayed fine motor development	119559	SFXN4	OMIM:615578
HP:0010862	Delayed fine motor development	10381	TUBB3	ORPHA:300570
HP:0010862	Delayed fine motor development	23325	WASHC4	OMIM:615817
HP:0010862	Delayed fine motor development	1009	CDH11	OMIM:211380
HP:0010862	Delayed fine motor development	1000	CDH2	OMIM:618929
HP:0010862	Delayed fine motor development	80856	LNPK	OMIM:618090
HP:0010862	Delayed fine motor development	9896	FIG4	ORPHA:208441
HP:0010862	Delayed fine motor development	8295	TRRAP	OMIM:618454
HP:0010862	Delayed fine motor development	51362	CDC40	OMIM:619302
HP:0010862	Delayed fine motor development	1496	CTNNA2	OMIM:618174
HP:0010862	Delayed fine motor development	833	CARS1	OMIM:618891
HP:0010862	Delayed fine motor development	3340	NDST1	OMIM:616116
HP:0010862	Delayed fine motor development	96459	FNIP1	OMIM:619705
HP:0010862	Delayed fine motor development	84148	KAT8	OMIM:618974
HP:0010862	Delayed fine motor development	25942	SIN3A	OMIM:613406
HP:0010862	Delayed fine motor development	5297	PI4KA	OMIM:619708
HP:0010863	Receptive language delay	7314	UBB	ORPHA:99772
HP:0010863	Receptive language delay	57822	GRHL3	ORPHA:99772
HP:0010863	Receptive language delay	93986	FOXP2	ORPHA:209908
HP:0010863	Receptive language delay	7840	ALMS1	ORPHA:64
HP:0010863	Receptive language delay	201163	FLCN	OMIM:610883
HP:0010863	Receptive language delay	5058	PAK1	OMIM:618158
HP:0010863	Receptive language delay	27161	AGO2	OMIM:619149
HP:0010863	Receptive language delay	10079	ATP9A	OMIM:620242
HP:0010863	Receptive language delay	26047	CNTNAP2	ORPHA:163681
HP:0010863	Receptive language delay	25970	SH2B1	ORPHA:261222
HP:0010863	Receptive language delay	25970	SH2B1	ORPHA:261197
HP:0010863	Receptive language delay	79813	EHMT1	ORPHA:261652
HP:0010863	Receptive language delay	58508	KMT2C	ORPHA:261652
HP:0010863	Receptive language delay	2782	GNB1	OMIM:616973
HP:0010865	Oppositional defiant disorder	2799	GNS	OMIM:252940
HP:0010865	Oppositional defiant disorder	84274	COQ5	OMIM:619028
HP:0010866	Abdominal wall defect	8036	SHOC2	OMIM:607721
HP:0010866	Abdominal wall defect	23394	ADNP	ORPHA:404448
HP:0010866	Abdominal wall defect	8425	LTBP4	OMIM:613177
HP:0010866	Abdominal wall defect	268	AMH	ORPHA:2856
HP:0010866	Abdominal wall defect	268	AMH	OMIM:261550
HP:0010866	Abdominal wall defect	269	AMHR2	ORPHA:2856
HP:0010866	Abdominal wall defect	269	AMHR2	OMIM:261550
HP:0010866	Abdominal wall defect	81857	MED25	OMIM:616449
HP:0010866	Abdominal wall defect	81857	MED25	ORPHA:464738
HP:0010866	Abdominal wall defect	64220	STRA6	OMIM:601186
HP:0010866	Abdominal wall defect	64412	GZF1	OMIM:617662
HP:0010866	Abdominal wall defect	477	ATP1A2	OMIM:619602
HP:0010866	Abdominal wall defect	129563	DIS3L2	ORPHA:2849
HP:0010866	Abdominal wall defect	79158	GNPTAB	OMIM:252500
HP:0010866	Abdominal wall defect	79158	GNPTAB	ORPHA:576
HP:0010866	Abdominal wall defect	64175	P3H1	OMIM:610915
HP:0010866	Abdominal wall defect	57589	RIC1	OMIM:618761
HP:0010866	Abdominal wall defect	113189	CHST14	ORPHA:2953
HP:0010866	Abdominal wall defect	29940	DSE	ORPHA:2953
HP:0010866	Abdominal wall defect	29940	DSE	OMIM:615539
HP:0010866	Abdominal wall defect	23545	ATP6V0A2	ORPHA:2834
HP:0010866	Abdominal wall defect	23545	ATP6V0A2	OMIM:278250
HP:0010866	Abdominal wall defect	23545	ATP6V0A2	OMIM:219200
HP:0010866	Abdominal wall defect	23545	ATP6V0A2	ORPHA:357074
HP:0010866	Abdominal wall defect	4853	NOTCH2	OMIM:102500
HP:0010866	Abdominal wall defect	4853	NOTCH2	ORPHA:955
HP:0010866	Abdominal wall defect	3423	IDS	ORPHA:217085
HP:0010866	Abdominal wall defect	3423	IDS	OMIM:309900
HP:0010866	Abdominal wall defect	3423	IDS	ORPHA:217093
HP:0010866	Abdominal wall defect	9968	MED12	ORPHA:93932
HP:0010866	Abdominal wall defect	9968	MED12	OMIM:305450
HP:0010866	Abdominal wall defect	9968	MED12	OMIM:300895
HP:0010866	Abdominal wall defect	1183	CLCN4	ORPHA:485350
HP:0010866	Abdominal wall defect	64359	NXN	ORPHA:1507
HP:0010866	Abdominal wall defect	4920	ROR2	ORPHA:1507
HP:0010866	Abdominal wall defect	4920	ROR2	OMIM:268310
HP:0010866	Abdominal wall defect	8626	TP63	ORPHA:93930
HP:0010866	Abdominal wall defect	3670	ISL1	ORPHA:93930
HP:0010866	Abdominal wall defect	1277	COL1A1	ORPHA:287
HP:0010866	Abdominal wall defect	1277	COL1A1	OMIM:619115
HP:0010866	Abdominal wall defect	1277	COL1A1	ORPHA:1899
HP:0010866	Abdominal wall defect	1289	COL5A1	ORPHA:287
HP:0010866	Abdominal wall defect	1289	COL5A1	OMIM:130000
HP:0010866	Abdominal wall defect	1290	COL5A2	ORPHA:287
HP:0010866	Abdominal wall defect	1281	COL3A1	ORPHA:286
HP:0010866	Abdominal wall defect	1281	COL3A1	OMIM:130050
HP:0010866	Abdominal wall defect	23347	SMCHD1	OMIM:603457
HP:0010866	Abdominal wall defect	23347	SMCHD1	ORPHA:2250
HP:0010866	Abdominal wall defect	6926	TBX3	OMIM:181450
HP:0010866	Abdominal wall defect	22872	SEC31A	OMIM:618651
HP:0010866	Abdominal wall defect	54968	TMEM70	OMIM:614052
HP:0010866	Abdominal wall defect	11107	PRDM5	OMIM:614170
HP:0010866	Abdominal wall defect	1656	DDX6	OMIM:618653
HP:0010866	Abdominal wall defect	1501	CTNND2	ORPHA:281
HP:0010866	Abdominal wall defect	9037	SEMA5A	ORPHA:281
HP:0010866	Abdominal wall defect	84314	TMEM107	OMIM:617563
HP:0010866	Abdominal wall defect	2783	GNB2	OMIM:619503
HP:0010866	Abdominal wall defect	5337	PLD1	OMIM:212093
HP:0010866	Abdominal wall defect	339983	NAT8L	OMIM:614063
HP:0010866	Abdominal wall defect	54914	FOCAD	OMIM:619991
HP:0010866	Abdominal wall defect	5048	PAFAH1B1	ORPHA:217385
HP:0010866	Abdominal wall defect	7531	YWHAE	ORPHA:217385
HP:0010866	Abdominal wall defect	9091	PIGQ	OMIM:618548
HP:0010866	Abdominal wall defect	6134	RPL10	ORPHA:459070
HP:0010866	Abdominal wall defect	6134	RPL10	OMIM:300998
HP:0010866	Abdominal wall defect	2990	GUSB	ORPHA:584
HP:0010866	Abdominal wall defect	715	C1R	OMIM:130080
HP:0010866	Abdominal wall defect	9158	FIBP	OMIM:617107
HP:0010866	Abdominal wall defect	9158	FIBP	ORPHA:500095
HP:0010866	Abdominal wall defect	2542	SLC37A4	OMIM:619525
HP:0010866	Abdominal wall defect	9993	DGCR2	OMIM:192430
HP:0010866	Abdominal wall defect	8220	ESS2	OMIM:192430
HP:0010866	Abdominal wall defect	8214	DGCR6	OMIM:192430
HP:0010866	Abdominal wall defect	54487	DGCR8	OMIM:192430
HP:0010866	Abdominal wall defect	6899	TBX1	OMIM:192430
HP:0010866	Abdominal wall defect	6899	TBX1	ORPHA:567
HP:0010866	Abdominal wall defect	6899	TBX1	OMIM:188400
HP:0010866	Abdominal wall defect	4621	MYH3	OMIM:178110
HP:0010866	Abdominal wall defect	4621	MYH3	OMIM:193700
HP:0010866	Abdominal wall defect	4621	MYH3	ORPHA:2990
HP:0010866	Abdominal wall defect	2239	GPC4	ORPHA:373
HP:0010866	Abdominal wall defect	2239	GPC4	OMIM:312870
HP:0010866	Abdominal wall defect	2719	GPC3	ORPHA:373
HP:0010866	Abdominal wall defect	2719	GPC3	OMIM:312870
HP:0010866	Abdominal wall defect	79989	IFT56	OMIM:619534
HP:0010866	Abdominal wall defect	284098	PIGW	OMIM:616025
HP:0010866	Abdominal wall defect	259232	NALCN	OMIM:616266
HP:0010866	Abdominal wall defect	23483	TGDS	OMIM:616145
HP:0010866	Abdominal wall defect	4851	NOTCH1	OMIM:616028
HP:0010866	Abdominal wall defect	2260	FGFR1	OMIM:166250
HP:0010866	Abdominal wall defect	2260	FGFR1	ORPHA:2645
HP:0010866	Abdominal wall defect	2006	ELN	ORPHA:90348
HP:0010866	Abdominal wall defect	2006	ELN	OMIM:123700
HP:0010866	Abdominal wall defect	2006	ELN	ORPHA:904
HP:0010866	Abdominal wall defect	2006	ELN	OMIM:194050
HP:0010866	Abdominal wall defect	2006	ELN	ORPHA:91387
HP:0010866	Abdominal wall defect	10516	FBLN5	ORPHA:90348
HP:0010866	Abdominal wall defect	10516	FBLN5	ORPHA:90349
HP:0010866	Abdominal wall defect	10516	FBLN5	OMIM:219100
HP:0010866	Abdominal wall defect	5832	ALDH18A1	ORPHA:90348
HP:0010866	Abdominal wall defect	5832	ALDH18A1	OMIM:219150
HP:0010866	Abdominal wall defect	25836	NIPBL	OMIM:122470
HP:0010866	Abdominal wall defect	2720	GLB1	OMIM:230500
HP:0010866	Abdominal wall defect	2720	GLB1	OMIM:253010
HP:0010866	Abdominal wall defect	4052	LTBP1	ORPHA:90349
HP:0010866	Abdominal wall defect	4052	LTBP1	OMIM:619451
HP:0010866	Abdominal wall defect	30008	EFEMP2	ORPHA:90349
HP:0010866	Abdominal wall defect	30008	EFEMP2	OMIM:614437
HP:0010866	Abdominal wall defect	1107	CHD3	OMIM:618205
HP:0010866	Abdominal wall defect	3339	HSPG2	OMIM:255800
HP:0010866	Abdominal wall defect	3339	HSPG2	ORPHA:800
HP:0010866	Abdominal wall defect	2317	FLNB	OMIM:272460
HP:0010866	Abdominal wall defect	6595	SMARCA2	OMIM:601358
HP:0010866	Abdominal wall defect	1387	CREBBP	OMIM:618332
HP:0010866	Abdominal wall defect	8295	TRRAP	OMIM:618454
HP:0010866	Abdominal wall defect	54101	RIPK4	OMIM:263650
HP:0010866	Abdominal wall defect	4212	MEIS2	ORPHA:261190
HP:0010866	Abdominal wall defect	1801	DPH1	ORPHA:459061
HP:0010866	Abdominal wall defect	2737	GLI3	ORPHA:672
HP:0010866	Abdominal wall defect	2737	GLI3	ORPHA:36
HP:0010866	Abdominal wall defect	2737	GLI3	OMIM:175700
HP:0010866	Abdominal wall defect	4088	SMAD3	ORPHA:284984
HP:0010866	Abdominal wall defect	4088	SMAD3	OMIM:613795
HP:0010866	Abdominal wall defect	4088	SMAD3	ORPHA:91387
HP:0010866	Abdominal wall defect	6448	SGSH	OMIM:252900
HP:0010866	Abdominal wall defect	5351	PLOD1	OMIM:225400
HP:0010866	Abdominal wall defect	5351	PLOD1	ORPHA:1900
HP:0010866	Abdominal wall defect	1859	DYRK1A	ORPHA:268261
HP:0010866	Abdominal wall defect	10765	KDM5B	OMIM:618109
HP:0010866	Abdominal wall defect	6418	SET	OMIM:618106
HP:0010866	Abdominal wall defect	79813	EHMT1	ORPHA:96147
HP:0010866	Abdominal wall defect	79813	EHMT1	ORPHA:261652
HP:0010866	Abdominal wall defect	2627	GATA6	OMIM:600001
HP:0010866	Abdominal wall defect	374654	KIF7	ORPHA:36
HP:0010866	Abdominal wall defect	374654	KIF7	OMIM:200990
HP:0010866	Abdominal wall defect	374654	KIF7	OMIM:607131
HP:0010866	Abdominal wall defect	2972	BRF1	ORPHA:444072
HP:0010866	Abdominal wall defect	5515	PPP2CA	OMIM:618354
HP:0010866	Abdominal wall defect	388015	RTL1	ORPHA:254528
HP:0010866	Abdominal wall defect	8788	DLK1	ORPHA:254528
HP:0010866	Abdominal wall defect	55384	MEG3	ORPHA:254528
HP:0010866	Abdominal wall defect	23729	SHPK	ORPHA:440713
HP:0010866	Abdominal wall defect	4952	OCRL	ORPHA:534
HP:0010866	Abdominal wall defect	4125	MAN2B1	OMIM:248500
HP:0010866	Abdominal wall defect	6601	SMARCC2	OMIM:618362
HP:0010866	Abdominal wall defect	84068	SLC10A7	OMIM:618363
HP:0010866	Abdominal wall defect	165	AEBP1	OMIM:618000
HP:0010866	Abdominal wall defect	165	AEBP1	ORPHA:536532
HP:0010866	Abdominal wall defect	8260	NAA10	OMIM:300855
HP:0010866	Abdominal wall defect	8260	NAA10	ORPHA:276432
HP:0010866	Abdominal wall defect	5831	PYCR1	OMIM:612940
HP:0010866	Abdominal wall defect	5831	PYCR1	OMIM:614438
HP:0010866	Abdominal wall defect	9719	ADAMTSL2	ORPHA:1901
HP:0010866	Abdominal wall defect	9509	ADAMTS2	ORPHA:1901
HP:0010866	Abdominal wall defect	9509	ADAMTS2	OMIM:225410
HP:0010866	Abdominal wall defect	1312	COMT	ORPHA:567
HP:0010866	Abdominal wall defect	221037	JMJD1C	ORPHA:567
HP:0010866	Abdominal wall defect	2812	GP1BB	ORPHA:567
HP:0010866	Abdominal wall defect	6239	RREB1	ORPHA:567
HP:0010866	Abdominal wall defect	7290	HIRA	ORPHA:567
HP:0010866	Abdominal wall defect	9632	SEC24C	ORPHA:567
HP:0010866	Abdominal wall defect	7353	UFD1	ORPHA:567
HP:0010866	Abdominal wall defect	421	ARVCF	ORPHA:567
HP:0010866	Abdominal wall defect	22827	PUF60	ORPHA:508488
HP:0010866	Abdominal wall defect	538	ATP7A	ORPHA:565
HP:0010866	Abdominal wall defect	538	ATP7A	ORPHA:198
HP:0010866	Abdominal wall defect	27031	NPHP3	OMIM:267010
HP:0010866	Abdominal wall defect	1280	COL2A1	OMIM:156550
HP:0010866	Abdominal wall defect	1280	COL2A1	OMIM:184250
HP:0010866	Abdominal wall defect	11342	RNF13	OMIM:618379
HP:0010866	Abdominal wall defect	11342	RNF13	ORPHA:544503
HP:0010866	Abdominal wall defect	7317	UBA1	OMIM:301830
HP:0010866	Abdominal wall defect	84896	ATAD1	OMIM:618011
HP:0010866	Abdominal wall defect	26040	SETBP1	ORPHA:798
HP:0010866	Abdominal wall defect	2316	FLNA	ORPHA:75497
HP:0010866	Abdominal wall defect	9791	PTDSS1	OMIM:151050
HP:0010866	Abdominal wall defect	9791	PTDSS1	ORPHA:2658
HP:0010866	Abdominal wall defect	716	C1S	OMIM:617174
HP:0010866	Abdominal wall defect	10526	IPO8	OMIM:619472
HP:0010866	Abdominal wall defect	64840	PORCN	ORPHA:2092
HP:0010866	Abdominal wall defect	64840	PORCN	OMIM:305600
HP:0010866	Abdominal wall defect	1278	COL1A2	OMIM:225320
HP:0010866	Abdominal wall defect	1278	COL1A2	ORPHA:230851
HP:0010866	Abdominal wall defect	1278	COL1A2	ORPHA:1899
HP:0010866	Abdominal wall defect	94005	PIGS	OMIM:618143
HP:0010866	Abdominal wall defect	6935	ZEB1	OMIM:609141
HP:0010866	Abdominal wall defect	285590	SH3PXD2B	ORPHA:137834
HP:0010866	Abdominal wall defect	10283	CWC27	ORPHA:166035
HP:0010866	Abdominal wall defect	8720	MBTPS1	OMIM:618392
HP:0010866	Abdominal wall defect	23405	DICER1	OMIM:618272
HP:0010866	Abdominal wall defect	51360	MBTPS2	OMIM:308205
HP:0010866	Abdominal wall defect	51360	MBTPS2	ORPHA:2273
HP:0010866	Abdominal wall defect	1457	CSNK2A1	OMIM:617062
HP:0010866	Abdominal wall defect	23112	TNRC6B	OMIM:619243
HP:0010866	Abdominal wall defect	10220	GDF11	OMIM:619122
HP:0010866	Abdominal wall defect	8450	CUL4B	ORPHA:85293
HP:0010866	Abdominal wall defect	2799	GNS	OMIM:252940
HP:0010866	Abdominal wall defect	5295	PIK3R1	ORPHA:3163
HP:0010866	Abdominal wall defect	5295	PIK3R1	OMIM:269880
HP:0010866	Abdominal wall defect	149461	CLDN19	ORPHA:2196
HP:0010866	Abdominal wall defect	9487	PIGL	OMIM:280000
HP:0010866	Abdominal wall defect	875	CBS	OMIM:236200
HP:0010866	Abdominal wall defect	7474	WNT5A	OMIM:180700
HP:0010866	Abdominal wall defect	7474	WNT5A	ORPHA:3107
HP:0010866	Abdominal wall defect	1855	DVL1	OMIM:180700
HP:0010866	Abdominal wall defect	1855	DVL1	ORPHA:3107
HP:0010866	Abdominal wall defect	9897	WASHC5	ORPHA:7
HP:0010866	Abdominal wall defect	28952	CCDC22	ORPHA:7
HP:0010866	Abdominal wall defect	9652	SKIC3	ORPHA:84064
HP:0010866	Abdominal wall defect	6499	SKIC2	ORPHA:84064
HP:0010866	Abdominal wall defect	5518	PPP2R1A	ORPHA:457284
HP:0010866	Abdominal wall defect	29969	MDFIC	OMIM:620014
HP:0010866	Abdominal wall defect	7042	TGFB2	OMIM:614816
HP:0010866	Abdominal wall defect	7042	TGFB2	ORPHA:91387
HP:0010866	Abdominal wall defect	871	SERPINH1	OMIM:613848
HP:0010866	Abdominal wall defect	168667	BMPER	OMIM:608022
HP:0010866	Abdominal wall defect	4702	NDUFA8	OMIM:619272
HP:0010866	Abdominal wall defect	10128	LRPPRC	OMIM:220111
HP:0010866	Abdominal wall defect	55503	TRPV6	OMIM:618188
HP:0010866	Abdominal wall defect	2904	GRIN2B	OMIM:613970
HP:0010866	Abdominal wall defect	57539	WDR35	OMIM:613610
HP:0010866	Abdominal wall defect	145173	B3GLCT	ORPHA:709
HP:0010866	Abdominal wall defect	123263	MTFMT	OMIM:614947
HP:0010866	Abdominal wall defect	4774	NFIA	OMIM:613735
HP:0010866	Abdominal wall defect	4758	NEU1	OMIM:256550
HP:0010866	Abdominal wall defect	4758	NEU1	ORPHA:93399
HP:0010866	Abdominal wall defect	4758	NEU1	ORPHA:93400
HP:0010866	Abdominal wall defect	23126	POGZ	ORPHA:468678
HP:0010866	Abdominal wall defect	5352	PLOD2	OMIM:609220
HP:0010866	Abdominal wall defect	64324	NSD1	ORPHA:821
HP:0010866	Abdominal wall defect	64324	NSD1	ORPHA:3447
HP:0010866	Abdominal wall defect	29072	SETD2	ORPHA:821
HP:0010866	Abdominal wall defect	10297	APC2	ORPHA:821
HP:0010866	Abdominal wall defect	10093	ARPC4	OMIM:620141
HP:0010866	Abdominal wall defect	4281	MID1	OMIM:300000
HP:0010866	Abdominal wall defect	4281	MID1	ORPHA:2745
HP:0010866	Abdominal wall defect	8443	GNPAT	OMIM:222765
HP:0010866	Abdominal wall defect	613	BCR	ORPHA:261330
HP:0010866	Abdominal wall defect	1399	CRKL	ORPHA:261330
HP:0010866	Abdominal wall defect	5594	MAPK1	ORPHA:261330
HP:0010866	Abdominal wall defect	25782	RAB3GAP2	OMIM:212720
HP:0010866	Abdominal wall defect	6197	RPS6KA3	OMIM:303600
HP:0010866	Abdominal wall defect	1146	CHRNG	OMIM:265000
HP:0010866	Abdominal wall defect	1146	CHRNG	ORPHA:2990
HP:0010866	Abdominal wall defect	57492	ARID1B	OMIM:135900
HP:0010866	Abdominal wall defect	92579	G6PC3	OMIM:612541
HP:0010866	Abdominal wall defect	8289	ARID1A	OMIM:614607
HP:0010866	Abdominal wall defect	6598	SMARCB1	OMIM:614608
HP:0010866	Abdominal wall defect	26053	AUTS2	ORPHA:352490
HP:0010866	Abdominal wall defect	26053	AUTS2	OMIM:615834
HP:0010866	Abdominal wall defect	23314	SATB2	OMIM:612313
HP:0010866	Abdominal wall defect	25942	SIN3A	OMIM:613406
HP:0010866	Abdominal wall defect	3425	IDUA	OMIM:607014
HP:0010866	Abdominal wall defect	3425	IDUA	OMIM:607015
HP:0010866	Abdominal wall defect	175	AGA	ORPHA:93
HP:0010866	Abdominal wall defect	5826	ABCD4	OMIM:614857
HP:0010866	Abdominal wall defect	699	BUB1	OMIM:620183
HP:0010866	Abdominal wall defect	1836	SLC26A2	OMIM:600972
HP:0010866	Abdominal wall defect	197257	LDHD	OMIM:245450
HP:0010866	Abdominal wall defect	1857	DVL3	ORPHA:3107
HP:0010866	Abdominal wall defect	2535	FZD2	ORPHA:3107
HP:0010866	Abdominal wall defect	6804	STX1A	ORPHA:904
HP:0010866	Abdominal wall defect	7461	CLIP2	ORPHA:904
HP:0010866	Abdominal wall defect	84277	DNAJC30	ORPHA:904
HP:0010866	Abdominal wall defect	8468	FKBP6	ORPHA:904
HP:0010866	Abdominal wall defect	5982	RFC2	ORPHA:904
HP:0010866	Abdominal wall defect	2969	GTF2I	ORPHA:904
HP:0010866	Abdominal wall defect	3984	LIMK1	ORPHA:904
HP:0010866	Abdominal wall defect	9569	GTF2IRD1	ORPHA:904
HP:0010866	Abdominal wall defect	155382	VPS37D	ORPHA:904
HP:0010866	Abdominal wall defect	155368	METTL27	ORPHA:904
HP:0010866	Abdominal wall defect	114049	BUD23	ORPHA:904
HP:0010866	Abdominal wall defect	7458	EIF4H	ORPHA:904
HP:0010866	Abdominal wall defect	84163	GTF2IRD2	ORPHA:904
HP:0010866	Abdominal wall defect	9275	BCL7B	ORPHA:904
HP:0010866	Abdominal wall defect	26608	TBL2	ORPHA:904
HP:0010866	Abdominal wall defect	653361	NCF1	ORPHA:904
HP:0010866	Abdominal wall defect	135886	TMEM270	ORPHA:904
HP:0010866	Abdominal wall defect	51085	MLXIPL	ORPHA:904
HP:0010866	Abdominal wall defect	51085	MLXIPL	OMIM:194050
HP:0010866	Abdominal wall defect	9031	BAZ1B	ORPHA:904
HP:0010866	Abdominal wall defect	10056	FARSB	OMIM:613658
HP:0010866	Abdominal wall defect	81031	SLC2A10	ORPHA:3342
HP:0010866	Abdominal wall defect	81031	SLC2A10	OMIM:208050
HP:0010866	Abdominal wall defect	54499	TMCO1	OMIM:213980
HP:0010866	Abdominal wall defect	84992	PIGY	OMIM:616809
HP:0010866	Abdominal wall defect	10907	TXNL4A	OMIM:608572
HP:0010866	Abdominal wall defect	58508	KMT2C	ORPHA:261652
HP:0010866	Abdominal wall defect	4094	MAF	ORPHA:1272
HP:0010866	Abdominal wall defect	8481	OFD1	OMIM:300209
HP:0010866	Abdominal wall defect	3481	IGF2	ORPHA:397590
HP:0010866	Abdominal wall defect	3481	IGF2	ORPHA:2128
HP:0010866	Abdominal wall defect	1028	CDKN1C	ORPHA:397590
HP:0010866	Abdominal wall defect	5324	PLAG1	ORPHA:397590
HP:0010866	Abdominal wall defect	8091	HMGA2	ORPHA:397590
HP:0010866	Abdominal wall defect	63895	PIEZO2	ORPHA:1154
HP:0010866	Abdominal wall defect	63895	PIEZO2	OMIM:248700
HP:0010866	Abdominal wall defect	10984	KCNQ1OT1	ORPHA:2128
HP:0010866	Abdominal wall defect	283120	H19	ORPHA:2128
HP:0010866	Abdominal wall defect	2146	EZH2	OMIM:277590
HP:0010866	Abdominal wall defect	2146	EZH2	ORPHA:3447
HP:0010866	Abdominal wall defect	7048	TGFBR2	OMIM:610168
HP:0010866	Abdominal wall defect	7048	TGFBR2	ORPHA:91387
HP:0010866	Abdominal wall defect	8726	EED	ORPHA:3447
HP:0010866	Abdominal wall defect	23512	SUZ12	ORPHA:3447
HP:0010866	Abdominal wall defect	55690	PACS1	ORPHA:329224
HP:0010866	Abdominal wall defect	2245	FGD1	ORPHA:915
HP:0010866	Abdominal wall defect	2245	FGD1	OMIM:305400
HP:0010866	Abdominal wall defect	2200	FBN1	ORPHA:2462
HP:0010866	Abdominal wall defect	2200	FBN1	ORPHA:91387
HP:0010866	Abdominal wall defect	6497	SKI	ORPHA:2462
HP:0010866	Abdominal wall defect	6497	SKI	OMIM:182212
HP:0010866	Abdominal wall defect	4089	SMAD4	ORPHA:2588
HP:0010866	Abdominal wall defect	4089	SMAD4	ORPHA:91387
HP:0010866	Abdominal wall defect	411	ARSB	OMIM:253200
HP:0010866	Abdominal wall defect	10847	SRCAP	OMIM:136140
HP:0010866	Abdominal wall defect	4854	NOTCH3	OMIM:130720
HP:0010866	Abdominal wall defect	4854	NOTCH3	ORPHA:2789
HP:0010866	Abdominal wall defect	23291	FBXW11	OMIM:618914
HP:0010866	Abdominal wall defect	4953	ODC1	ORPHA:544488
HP:0010866	Abdominal wall defect	998	CDC42	OMIM:616737
HP:0010866	Abdominal wall defect	998	CDC42	ORPHA:487796
HP:0010866	Abdominal wall defect	55033	FKBP14	OMIM:614557
HP:0010866	Abdominal wall defect	2187	FANCB	ORPHA:3412
HP:0010866	Abdominal wall defect	2657	GDF1	OMIM:208530
HP:0010866	Abdominal wall defect	10265	IRX5	OMIM:611174
HP:0010866	Abdominal wall defect	134701	RIPPLY2	ORPHA:2311
HP:0010866	Abdominal wall defect	10683	DLL3	ORPHA:2311
HP:0010866	Abdominal wall defect	3955	LFNG	ORPHA:2311
HP:0010866	Abdominal wall defect	84667	HES7	ORPHA:2311
HP:0010866	Abdominal wall defect	145873	MESP2	ORPHA:2311
HP:0010866	Abdominal wall defect	55764	IFT122	OMIM:218330
HP:0010866	Abdominal wall defect	367	AR	OMIM:300068
HP:0010866	Abdominal wall defect	8884	SLC5A6	OMIM:619903
HP:0010866	Abdominal wall defect	2626	GATA4	OMIM:615542
HP:0010866	Abdominal wall defect	56623	INPP5E	ORPHA:1454
HP:0010866	Abdominal wall defect	91147	TMEM67	ORPHA:1454
HP:0010866	Abdominal wall defect	23322	RPGRIP1L	ORPHA:1454
HP:0010866	Abdominal wall defect	57545	CC2D2A	ORPHA:1454
HP:0010866	Abdominal wall defect	79633	FAT4	OMIM:615546
HP:0010866	Abdominal wall defect	6785	ELOVL4	OMIM:614457
HP:0010866	Abdominal wall defect	26227	PHGDH	ORPHA:79351
HP:0010866	Abdominal wall defect	2313	FLI1	ORPHA:2308
HP:0010866	Abdominal wall defect	10664	CTCF	ORPHA:363611
HP:0010866	Abdominal wall defect	2588	GALNS	OMIM:253000
HP:0010866	Abdominal wall defect	1861	TOR1A	OMIM:618947
HP:0010866	Abdominal wall defect	8905	AP1S2	ORPHA:1568
HP:0010866	Abdominal wall defect	55617	TASP1	OMIM:618950
HP:0010866	Abdominal wall defect	2741	GLRA1	OMIM:149400
HP:0010866	Abdominal wall defect	10243	GPHN	OMIM:149400
HP:0010866	Abdominal wall defect	523	ATP6V1A	ORPHA:357074
HP:0010866	Abdominal wall defect	523	ATP6V1A	OMIM:617403
HP:0010866	Abdominal wall defect	529	ATP6V1E1	ORPHA:357074
HP:0010866	Abdominal wall defect	7518	XRCC4	OMIM:616541
HP:0010866	Abdominal wall defect	10020	GNE	OMIM:269921
HP:0010866	Abdominal wall defect	51780	KDM3B	OMIM:618846
HP:0010866	Abdominal wall defect	5430	POLR2A	OMIM:618603
HP:0010866	Abdominal wall defect	9469	CHST3	OMIM:245600
HP:0010866	Abdominal wall defect	26229	B3GAT3	OMIM:245600
HP:0010866	Abdominal wall defect	7043	TGFB3	OMIM:615582
HP:0010866	Abdominal wall defect	7043	TGFB3	ORPHA:91387
HP:0010866	Abdominal wall defect	57728	WDR19	OMIM:614376
HP:0010866	Abdominal wall defect	203068	TUBB	ORPHA:2505
HP:0010866	Abdominal wall defect	10982	MAPRE2	ORPHA:2505
HP:0010866	Abdominal wall defect	221927	BRAT1	OMIM:614498
HP:0010866	Abdominal wall defect	170302	ARX	ORPHA:2508
HP:0010866	Abdominal wall defect	4629	MYH11	ORPHA:91387
HP:0010866	Abdominal wall defect	7046	TGFBR1	ORPHA:91387
HP:0010866	Abdominal wall defect	4015	LOX	ORPHA:91387
HP:0010866	Abdominal wall defect	4087	SMAD2	ORPHA:91387
HP:0010866	Abdominal wall defect	59	ACTA2	ORPHA:91387
HP:0010866	Abdominal wall defect	5592	PRKG1	ORPHA:91387
HP:0010866	Abdominal wall defect	2301	FOXE3	ORPHA:91387
HP:0010866	Abdominal wall defect	4144	MAT2A	ORPHA:91387
HP:0010866	Abdominal wall defect	23493	HEY2	ORPHA:91387
HP:0010866	Abdominal wall defect	8076	MFAP5	ORPHA:91387
HP:0010866	Abdominal wall defect	4638	MYLK	ORPHA:91387
HP:0010866	Abdominal wall defect	341640	FREM2	ORPHA:2052
HP:0010866	Abdominal wall defect	80144	FRAS1	ORPHA:2052
HP:0010866	Abdominal wall defect	23426	GRIP1	ORPHA:2052
HP:0010866	Abdominal wall defect	1788	DNMT3A	ORPHA:404443
HP:0010866	Abdominal wall defect	1788	DNMT3A	OMIM:615879
HP:0010866	Abdominal wall defect	4487	MSX1	ORPHA:199302
HP:0010866	Abdominal wall defect	5818	NECTIN1	ORPHA:199302
HP:0010866	Abdominal wall defect	3664	IRF6	ORPHA:199302
HP:0010866	Abdominal wall defect	7849	PAX8	OMIM:218700
HP:0010866	Abdominal wall defect	7849	PAX8	ORPHA:95712
HP:0010866	Abdominal wall defect	283489	CHAMP1	OMIM:616579
HP:0010866	Abdominal wall defect	72	ACTG2	ORPHA:2604
HP:0010866	Abdominal wall defect	72	ACTG2	ORPHA:2241
HP:0010866	Abdominal wall defect	23384	SPECC1L	ORPHA:1519
HP:0010866	Abdominal wall defect	3764	KCNJ8	ORPHA:1517
HP:0010866	Abdominal wall defect	10060	ABCC9	ORPHA:1517
HP:0010866	Abdominal wall defect	10060	ABCC9	OMIM:239850
HP:0010866	Abdominal wall defect	7253	TSHR	ORPHA:90673
HP:0010866	Abdominal wall defect	7252	TSHB	ORPHA:90674
HP:0010866	Abdominal wall defect	7252	TSHB	OMIM:275100
HP:0010866	Abdominal wall defect	29957	SLC25A24	ORPHA:2963
HP:0010866	Abdominal wall defect	29957	SLC25A24	ORPHA:2095
HP:0010866	Abdominal wall defect	29957	SLC25A24	OMIM:612289
HP:0010866	Abdominal wall defect	54453	RIN2	OMIM:613075
HP:0010866	Abdominal wall defect	54453	RIN2	ORPHA:217335
HP:0010866	Abdominal wall defect	50814	NSDHL	OMIM:308050
HP:0010866	Abdominal wall defect	672	BRCA1	ORPHA:84
HP:0010866	Abdominal wall defect	10459	MAD2L2	ORPHA:84
HP:0010866	Abdominal wall defect	7516	XRCC2	ORPHA:84
HP:0010866	Abdominal wall defect	29089	UBE2T	ORPHA:84
HP:0010866	Abdominal wall defect	675	BRCA2	ORPHA:84
HP:0010866	Abdominal wall defect	55120	FANCL	ORPHA:84
HP:0010866	Abdominal wall defect	2177	FANCD2	ORPHA:84
HP:0010866	Abdominal wall defect	2175	FANCA	ORPHA:84
HP:0010866	Abdominal wall defect	2176	FANCC	ORPHA:84
HP:0010866	Abdominal wall defect	2178	FANCE	ORPHA:84
HP:0010866	Abdominal wall defect	2188	FANCF	ORPHA:84
HP:0010866	Abdominal wall defect	2189	FANCG	ORPHA:84
HP:0010866	Abdominal wall defect	5888	RAD51	ORPHA:84
HP:0010866	Abdominal wall defect	5889	RAD51C	ORPHA:84
HP:0010866	Abdominal wall defect	55159	RFWD3	ORPHA:84
HP:0010866	Abdominal wall defect	83990	BRIP1	ORPHA:84
HP:0010866	Abdominal wall defect	57697	FANCM	ORPHA:84
HP:0010866	Abdominal wall defect	79728	PALB2	ORPHA:84
HP:0010866	Abdominal wall defect	84464	SLX4	ORPHA:84
HP:0010866	Abdominal wall defect	2072	ERCC4	ORPHA:84
HP:0010866	Abdominal wall defect	55215	FANCI	ORPHA:84
HP:0010866	Abdominal wall defect	2697	GJA1	ORPHA:2710
HP:0010866	Abdominal wall defect	10555	AGPAT2	OMIM:608594
HP:0010866	Abdominal wall defect	3070	HELLS	ORPHA:2268
HP:0010866	Abdominal wall defect	1789	DNMT3B	ORPHA:2268
HP:0010866	Abdominal wall defect	83879	CDCA7	ORPHA:2268
HP:0010866	Abdominal wall defect	9841	ZBTB24	ORPHA:2268
HP:0010866	Abdominal wall defect	1009	CDH11	ORPHA:1299
HP:0010866	Abdominal wall defect	1954	MEGF8	OMIM:614976
HP:0010866	Abdominal wall defect	1954	MEGF8	ORPHA:65759
HP:0010866	Abdominal wall defect	649	BMP1	OMIM:614856
HP:0010866	Abdominal wall defect	55636	CHD7	OMIM:214800
HP:0010866	Abdominal wall defect	4036	LRP2	ORPHA:2143
HP:0010866	Abdominal wall defect	4036	LRP2	OMIM:222448
HP:0010866	Abdominal wall defect	1947	EFNB1	OMIM:304110
HP:0010866	Abdominal wall defect	5626	PROP1	ORPHA:226307
HP:0010866	Abdominal wall defect	89884	LHX4	ORPHA:226307
HP:0010866	Abdominal wall defect	8022	LHX3	ORPHA:226307
HP:0010866	Abdominal wall defect	5449	POU1F1	ORPHA:226307
HP:0010866	Abdominal wall defect	8820	HESX1	ORPHA:226307
HP:0010866	Abdominal wall defect	79753	SNIP1	OMIM:614501
HP:0010866	Abdominal wall defect	5593	PRKG2	OMIM:619636
HP:0010866	Abdominal wall defect	8364	H4C3	OMIM:619758
HP:0010866	Abdominal wall defect	8517	IKBKG	ORPHA:464
HP:0010866	Abdominal wall defect	50506	DUOX2	ORPHA:226316
HP:0010866	Abdominal wall defect	50506	DUOX2	ORPHA:95716
HP:0010866	Abdominal wall defect	25802	LMOD1	ORPHA:2241
HP:0010866	Abdominal wall defect	51341	ZBTB7A	OMIM:619769
HP:0010866	Abdominal wall defect	55343	SLC35C1	ORPHA:99843
HP:0010866	Abdominal wall defect	7030	TFE3	OMIM:301066
HP:0010866	Abdominal wall defect	285203	EOGT	OMIM:615297
HP:0010866	Abdominal wall defect	57479	PRR12	OMIM:619539
HP:0010866	Abdominal wall defect	84168	ANTXR1	OMIM:230740
HP:0010866	Abdominal wall defect	84168	ANTXR1	ORPHA:2067
HP:0010866	Abdominal wall defect	64919	BCL11B	OMIM:617237
HP:0010866	Abdominal wall defect	3930	LBR	OMIM:169400
HP:0010866	Abdominal wall defect	404672	GTF2H5	ORPHA:33364
HP:0010866	Abdominal wall defect	833	CARS1	ORPHA:33364
HP:0010866	Abdominal wall defect	2068	ERCC2	ORPHA:33364
HP:0010866	Abdominal wall defect	7737	RNF113A	ORPHA:33364
HP:0010866	Abdominal wall defect	136647	MPLKIP	ORPHA:33364
HP:0010866	Abdominal wall defect	6897	TARS1	ORPHA:33364
HP:0010866	Abdominal wall defect	2071	ERCC3	ORPHA:33364
HP:0010866	Abdominal wall defect	2961	GTF2E2	ORPHA:33364
HP:0010866	Abdominal wall defect	147372	CCBE1	OMIM:235510
HP:0010866	Abdominal wall defect	6528	SLC5A5	OMIM:274400
HP:0010866	Abdominal wall defect	6528	SLC5A5	ORPHA:95716
HP:0010866	Abdominal wall defect	117581	TWIST2	ORPHA:920
HP:0010866	Abdominal wall defect	9742	IFT140	OMIM:266920
HP:0010866	Abdominal wall defect	51053	GMNN	OMIM:616835
HP:0010866	Abdominal wall defect	90417	KNSTRN	OMIM:613328
HP:0010866	Abdominal wall defect	90417	KNSTRN	ORPHA:221139
HP:0010866	Abdominal wall defect	5293	PIK3CD	OMIM:613328
HP:0010866	Abdominal wall defect	5293	PIK3CD	ORPHA:221139
HP:0010866	Abdominal wall defect	6792	CDKL5	ORPHA:1934
HP:0010866	Abdominal wall defect	3736	KCNA1	ORPHA:1934
HP:0010866	Abdominal wall defect	2775	GNAO1	ORPHA:1934
HP:0010866	Abdominal wall defect	81603	TRIM8	ORPHA:1934
HP:0010866	Abdominal wall defect	2902	GRIN1	ORPHA:1934
HP:0010866	Abdominal wall defect	79751	SLC25A22	ORPHA:1934
HP:0010866	Abdominal wall defect	150094	SIK1	ORPHA:1934
HP:0010866	Abdominal wall defect	8573	CASK	ORPHA:1934
HP:0010866	Abdominal wall defect	23312	DMXL2	ORPHA:1934
HP:0010866	Abdominal wall defect	2917	GRM7	ORPHA:1934
HP:0010866	Abdominal wall defect	11284	PNKP	ORPHA:1934
HP:0010866	Abdominal wall defect	6326	SCN2A	ORPHA:1934
HP:0010866	Abdominal wall defect	51227	PIGP	ORPHA:1934
HP:0010866	Abdominal wall defect	6324	SCN1B	ORPHA:1934
HP:0010866	Abdominal wall defect	4761	NEUROD2	ORPHA:1934
HP:0010866	Abdominal wall defect	9759	HDAC4	ORPHA:1001
HP:0010866	Abdominal wall defect	546	ATRX	OMIM:301040
HP:0010866	Abdominal wall defect	6299	SALL1	OMIM:107480
HP:0010866	Abdominal wall defect	169792	GLIS3	OMIM:610199
HP:0010866	Abdominal wall defect	3097	HIVEP2	OMIM:616977
HP:0010866	Abdominal wall defect	3767	KCNJ11	ORPHA:99886
HP:0010866	Abdominal wall defect	346171	ZFP57	ORPHA:99886
HP:0010866	Abdominal wall defect	6833	ABCC8	ORPHA:99886
HP:0010866	Abdominal wall defect	79068	FTO	OMIM:612938
HP:0010866	Abdominal wall defect	4784	NFIX	OMIM:602535
HP:0010866	Abdominal wall defect	3756	KCNH1	OMIM:135500
HP:0010866	Abdominal wall defect	85358	SHANK3	ORPHA:48652
HP:0010866	Abdominal wall defect	10082	GPC6	OMIM:258315
HP:0010866	Abdominal wall defect	405753	DUOXA2	ORPHA:95716
HP:0010866	Abdominal wall defect	7038	TG	ORPHA:95716
HP:0010866	Abdominal wall defect	7173	TPO	ORPHA:95716
HP:0010866	Abdominal wall defect	389434	IYD	ORPHA:95716
HP:0010866	Abdominal wall defect	55603	TENT5A	OMIM:617952
HP:0010866	Abdominal wall defect	2019	EN1	OMIM:619218
HP:0010866	Abdominal wall defect	23389	MED13L	ORPHA:369891
HP:0010866	Abdominal wall defect	1482	NKX2-5	ORPHA:95712
HP:0010866	Abdominal wall defect	6045	RNF2	OMIM:619460
HP:0010866	Abdominal wall defect	2743	GLRB	ORPHA:3197
HP:0010866	Abdominal wall defect	9152	SLC6A5	ORPHA:3197
HP:0010866	Abdominal wall defect	633	BGN	OMIM:300989
HP:0010866	Abdominal wall defect	2475	MTOR	OMIM:616638
HP:0010866	Abdominal wall defect	51715	RAB23	ORPHA:65759
HP:0010866	Abdominal wall defect	51715	RAB23	OMIM:201000
HP:0010866	Abdominal wall defect	84265	POLR3GL	OMIM:619234
HP:0010866	Abdominal wall defect	26580	BSCL2	OMIM:269700
HP:0010866	Abdominal wall defect	54880	BCOR	OMIM:300166
HP:0010866	Abdominal wall defect	2263	FGFR2	ORPHA:1555
HP:0010866	Abdominal wall defect	100506658	OCLN	OMIM:251290
HP:0010866	Abdominal wall defect	23169	SLC35D1	OMIM:269250
HP:0010866	Abdominal wall defect	5879	RAC1	OMIM:617751
HP:0010866	Abdominal wall defect	5879	RAC1	ORPHA:500159
HP:0010866	Abdominal wall defect	84231	TRAF7	OMIM:618164
HP:0010866	Abdominal wall defect	10584	COLEC10	ORPHA:293843
HP:0010866	Abdominal wall defect	5648	MASP1	ORPHA:293843
HP:0010866	Abdominal wall defect	78989	COLEC11	ORPHA:293843
HP:0010866	Abdominal wall defect	63916	ELMO2	OMIM:606893
HP:0010866	Abdominal wall defect	5727	PTCH1	ORPHA:77301
HP:0010866	Abdominal wall defect	55553	SOX6	OMIM:618971
HP:0010866	Abdominal wall defect	9361	LONP1	OMIM:600373
HP:0010866	Abdominal wall defect	2294	FOXF1	OMIM:265380
HP:0010866	Abdominal wall defect	28981	IFT81	OMIM:617895
HP:0010866	Abdominal wall defect	23556	PIGN	ORPHA:2059
HP:0010866	Abdominal wall defect	55112	DYNC2I1	ORPHA:93271
HP:0010866	Abdominal wall defect	57560	IFT80	ORPHA:93271
HP:0010866	Abdominal wall defect	79659	DYNC2H1	ORPHA:93271
HP:0010866	Abdominal wall defect	89891	DYNC2I2	ORPHA:93271
HP:0010866	Abdominal wall defect	91754	NEK9	OMIM:617022
HP:0010866	Abdominal wall defect	51259	TMEM216	OMIM:603194
HP:0010866	Abdominal wall defect	10225	CD96	OMIM:211750
HP:0010866	Abdominal wall defect	10225	CD96	ORPHA:1308
HP:0010866	Abdominal wall defect	7547	ZIC3	OMIM:306955
HP:0010866	Abdominal wall defect	1147	CHUK	OMIM:613630
HP:0010866	Abdominal wall defect	158326	FREM1	ORPHA:3366
HP:0010866	Abdominal wall defect	158326	FREM1	OMIM:248450
HP:0010866	Abdominal wall defect	4313	MMP2	ORPHA:371428
HP:0010866	Abdominal wall defect	4323	MMP14	ORPHA:371428
HP:0010866	Abdominal wall defect	1301	COL11A1	OMIM:228520
HP:0010866	Abdominal wall defect	1301	COL11A1	ORPHA:2021
HP:0010866	Abdominal wall defect	79796	ALG9	OMIM:263210
HP:0010866	Abdominal wall defect	79796	ALG9	ORPHA:79328
HP:0010866	Abdominal wall defect	7067	THRA	OMIM:614450
HP:0010866	Abdominal wall defect	55012	PPP2R3C	OMIM:618419
HP:0010866	Abdominal wall defect	10046	MAMLD1	ORPHA:95706
HP:0010866	Abdominal wall defect	1302	COL11A2	ORPHA:2021
HP:0010866	Abdominal wall defect	4524	MTHFR	ORPHA:563609
HP:0010866	Abdominal wall defect	57216	VANGL2	ORPHA:563609
HP:0010866	Abdominal wall defect	57217	TTC7A	OMIM:243150
HP:0010866	Abdominal wall defect	57217	TTC7A	ORPHA:436252
HP:0010866	Abdominal wall defect	4659	PPP1R12A	OMIM:618820
HP:0010866	Abdominal wall defect	2571	GAD1	OMIM:619124
HP:0010866	Abdominal wall defect	9772	TMEM94	OMIM:618316
HP:0010866	Abdominal wall defect	139285	AMER1	OMIM:300373
HP:0010866	Abdominal wall defect	3090	HIC1	ORPHA:531
HP:0010866	Abdominal wall defect	153241	CEP120	OMIM:616300
HP:0010866	Abdominal wall defect	3784	KCNQ1	OMIM:130650
HP:0010866	Abdominal wall defect	727857	BHLHA9	ORPHA:3329
HP:0010866	Abdominal wall defect	5297	PI4KA	ORPHA:436252
HP:0010866	Abdominal wall defect	219844	HYLS1	OMIM:236680
HP:0010866	Abdominal wall defect	3239	HOXD13	ORPHA:887
HP:0010866	Abdominal wall defect	54903	MKS1	OMIM:249000
HP:0010866	Abdominal wall defect	51339	DACT1	ORPHA:63260
HP:0010866	Abdominal wall defect	10262	SF3B4	OMIM:154400
HP:0010866	Abdominal wall defect	1717	DHCR7	ORPHA:818
HP:0010866	Abdominal wall defect	7473	WNT3	OMIM:273395
HP:0010866	Abdominal wall defect	4204	MECP2	ORPHA:1762
HP:0010866	Abdominal wall defect	114548	NLRP3	ORPHA:575
HP:0010866	Abdominal wall defect	412	STS	ORPHA:281090
HP:0010866	Abdominal wall defect	57061	HYMAI	ORPHA:96191
HP:0010866	Abdominal wall defect	5325	PLAGL1	ORPHA:96191
HP:0010866	Abdominal wall defect	6862	TBXT	OMIM:615709
HP:0010866	Abdominal wall defect	9321	TRIP11	ORPHA:93299
HP:0010867	Dyssynergia	1822	ATN1	ORPHA:101
HP:0007809	Punctate corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007812	Herpetiform corneal ulceration	6898	TAT	OMIM:276600
HP:0007813	Nongranulomatous uveitis	64127	NOD2	OMIM:186580
HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	4976	OPA1	OMIM:125250
HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	4976	OPA1	OMIM:165500
HP:0000651	Diplopia	26191	PTPN22	ORPHA:397
HP:0000651	Diplopia	3106	HLA-B	ORPHA:397
HP:0000651	Diplopia	3123	HLA-DRB1	ORPHA:397
HP:0000651	Diplopia	3123	HLA-DRB1	OMIM:126200
HP:0000651	Diplopia	8974	P4HA2	ORPHA:397
HP:0000651	Diplopia	5274	SERPINI1	OMIM:604218
HP:0000651	Diplopia	353116	RILPL1	OMIM:619790
HP:0000651	Diplopia	4287	ATXN3	OMIM:109150
HP:0000651	Diplopia	4287	ATXN3	ORPHA:276238
HP:0000651	Diplopia	4287	ATXN3	ORPHA:276244
HP:0000651	Diplopia	4287	ATXN3	ORPHA:276241
HP:0000651	Diplopia	4137	MAPT	OMIM:601104
HP:0000651	Diplopia	4791	NFKB2	ORPHA:293978
HP:0000651	Diplopia	9698	PUM1	OMIM:617931
HP:0000651	Diplopia	5428	POLG	OMIM:258450
HP:0000651	Diplopia	5428	POLG	OMIM:157640
HP:0000651	Diplopia	5428	POLG	OMIM:603041
HP:0000651	Diplopia	773	CACNA1A	OMIM:108500
HP:0000651	Diplopia	773	CACNA1A	ORPHA:569
HP:0000651	Diplopia	773	CACNA1A	ORPHA:97
HP:0000651	Diplopia	773	CACNA1A	ORPHA:98758
HP:0000651	Diplopia	6507	SLC1A3	ORPHA:209967
HP:0000651	Diplopia	6507	SLC1A3	OMIM:612656
HP:0000651	Diplopia	6712	SPTBN2	ORPHA:352403
HP:0000651	Diplopia	4568	MT-TL2	ORPHA:663
HP:0000651	Diplopia	4567	MT-TL1	ORPHA:663
HP:0000651	Diplopia	4570	MT-TN	ORPHA:663
HP:0000651	Diplopia	4574	MT-TS1	ORPHA:663
HP:0000651	Diplopia	4221	MEN1	ORPHA:2965
HP:0000651	Diplopia	64072	CDH23	ORPHA:2965
HP:0000651	Diplopia	64072	CDH23	ORPHA:91347
HP:0000651	Diplopia	9049	AIP	ORPHA:2965
HP:0000651	Diplopia	3736	KCNA1	ORPHA:37612
HP:0000651	Diplopia	4884	NPTX1	OMIM:620158
HP:0000651	Diplopia	7040	TGFB1	OMIM:131300
HP:0000651	Diplopia	55157	DARS2	ORPHA:137898
HP:0000651	Diplopia	2629	GBA1	ORPHA:411602
HP:0000651	Diplopia	23317	DNAJC13	ORPHA:411602
HP:0000651	Diplopia	1981	EIF4G1	ORPHA:411602
HP:0000651	Diplopia	55737	VPS35	ORPHA:411602
HP:0000651	Diplopia	120892	LRRK2	ORPHA:411602
HP:0000651	Diplopia	120892	LRRK2	ORPHA:2828
HP:0000651	Diplopia	26058	GIGYF2	ORPHA:411602
HP:0000651	Diplopia	6622	SNCA	ORPHA:411602
HP:0000651	Diplopia	6622	SNCA	ORPHA:2828
HP:0000651	Diplopia	6513	SLC2A1	OMIM:601042
HP:0000651	Diplopia	6513	SLC2A1	ORPHA:53583
HP:0000651	Diplopia	5621	PRNP	OMIM:600072
HP:0000651	Diplopia	112476	PRRT2	ORPHA:569
HP:0000651	Diplopia	6323	SCN1A	ORPHA:569
HP:0000651	Diplopia	477	ATP1A2	ORPHA:569
HP:0000651	Diplopia	477	ATP1A2	OMIM:602481
HP:0000651	Diplopia	7276	TTR	OMIM:105210
HP:0000651	Diplopia	7156	TOP3A	OMIM:618098
HP:0000651	Diplopia	1200	TPP1	OMIM:609270
HP:0000651	Diplopia	1200	TPP1	ORPHA:284324
HP:0000651	Diplopia	54832	VPS13C	ORPHA:2828
HP:0000651	Diplopia	11315	PARK7	ORPHA:2828
HP:0000651	Diplopia	7345	UCHL1	ORPHA:2828
HP:0000651	Diplopia	27429	HTRA2	ORPHA:2828
HP:0000651	Diplopia	9829	DNAJC6	ORPHA:2828
HP:0000651	Diplopia	5420	PODXL	ORPHA:2828
HP:0000651	Diplopia	65018	PINK1	ORPHA:2828
HP:0000651	Diplopia	8867	SYNJ1	ORPHA:2828
HP:0000651	Diplopia	5071	PRKN	ORPHA:2828
HP:0000651	Diplopia	10528	NOP56	ORPHA:276198
HP:0000651	Diplopia	4644	MYO5A	ORPHA:79476
HP:0000651	Diplopia	2259	FGF14	OMIM:620174
HP:0000651	Diplopia	3752	KCND3	ORPHA:98772
HP:0000651	Diplopia	339453	TMEM240	ORPHA:98773
HP:0000651	Diplopia	54902	TTC19	OMIM:615157
HP:0000651	Diplopia	1890	TYMP	OMIM:603041
HP:0000651	Diplopia	6329	SCN4A	ORPHA:99734
HP:0000651	Diplopia	6329	SCN4A	ORPHA:98913
HP:0000651	Diplopia	92667	MGME1	ORPHA:352447
HP:0000651	Diplopia	6011	GRK1	ORPHA:75382
HP:0000651	Diplopia	6295	SAG	ORPHA:75382
HP:0000651	Diplopia	4665	NAB2	ORPHA:2126
HP:0000651	Diplopia	6778	STAT6	ORPHA:2126
HP:0000651	Diplopia	219285	SAMD9L	OMIM:619806
HP:0000651	Diplopia	2068	ERCC2	ORPHA:220295
HP:0000651	Diplopia	2073	ERCC5	ORPHA:220295
HP:0000651	Diplopia	2072	ERCC4	ORPHA:220295
HP:0000651	Diplopia	2071	ERCC3	ORPHA:220295
HP:0000651	Diplopia	60482	SLC5A7	ORPHA:98914
HP:0000651	Diplopia	4649	MYO9A	ORPHA:98914
HP:0000651	Diplopia	1305	COL13A1	ORPHA:98914
HP:0000651	Diplopia	1305	COL13A1	ORPHA:98913
HP:0000651	Diplopia	1103	CHAT	ORPHA:98914
HP:0000651	Diplopia	6576	SLC25A1	ORPHA:98914
HP:0000651	Diplopia	6843	VAMP1	ORPHA:98914
HP:0000651	Diplopia	375790	AGRN	ORPHA:98914
HP:0000651	Diplopia	375790	AGRN	ORPHA:98913
HP:0000651	Diplopia	127833	SYT2	ORPHA:98914
HP:0000651	Diplopia	6572	SLC18A3	ORPHA:98914
HP:0000651	Diplopia	6616	SNAP25	ORPHA:98914
HP:0000651	Diplopia	1134	CHRNA1	ORPHA:98913
HP:0000651	Diplopia	4038	LRP4	ORPHA:98913
HP:0000651	Diplopia	1140	CHRNB1	ORPHA:98913
HP:0000651	Diplopia	1144	CHRND	ORPHA:98913
HP:0000651	Diplopia	1145	CHRNE	ORPHA:98913
HP:0000651	Diplopia	4593	MUSK	ORPHA:98913
HP:0000651	Diplopia	5913	RAPSN	ORPHA:98913
HP:0000651	Diplopia	221264	AK9	ORPHA:98913
HP:0000651	Diplopia	285489	DOK7	ORPHA:98913
HP:0000651	Diplopia	55129	ANO10	ORPHA:284289
HP:0000651	Diplopia	8913	CACNA1G	ORPHA:458803
HP:0000651	Diplopia	8913	CACNA1G	OMIM:616795
HP:0000651	Diplopia	6389	SDHA	OMIM:619259
HP:0000651	Diplopia	22943	DKK1	ORPHA:268882
HP:0000651	Diplopia	54936	ADPRS	OMIM:618170
HP:0000651	Diplopia	4771	NF2	ORPHA:637
HP:0000651	Diplopia	3119	HLA-DQB1	OMIM:126200
HP:0000651	Diplopia	5133	PDCD1	OMIM:126200
HP:0000652	Lower eyelid coloboma	284252	KCTD1	OMIM:181270
HP:0000652	Lower eyelid coloboma	10262	SF3B4	ORPHA:245
HP:0000652	Lower eyelid coloboma	10262	SF3B4	OMIM:154400
HP:0000652	Lower eyelid coloboma	54101	RIPK4	OMIM:263650
HP:0000652	Lower eyelid coloboma	6949	TCOF1	OMIM:154500
HP:0000652	Lower eyelid coloboma	25885	POLR1A	OMIM:616462
HP:0000652	Lower eyelid coloboma	9533	POLR1C	OMIM:248390
HP:0000652	Lower eyelid coloboma	1909	EDNRA	OMIM:616367
HP:0000652	Lower eyelid coloboma	84172	POLR1B	OMIM:618939
HP:0000652	Lower eyelid coloboma	51082	POLR1D	OMIM:613717
HP:0000652	Lower eyelid coloboma	10907	TXNL4A	OMIM:608572
HP:0000656	Ectropion	242	ALOX12B	OMIM:242100
HP:0000656	Ectropion	242	ALOX12B	ORPHA:79394
HP:0000656	Ectropion	242	ALOX12B	ORPHA:313
HP:0000656	Ectropion	59344	ALOXE3	OMIM:242100
HP:0000656	Ectropion	59344	ALOXE3	OMIM:606545
HP:0000656	Ectropion	59344	ALOXE3	ORPHA:79394
HP:0000656	Ectropion	59344	ALOXE3	ORPHA:313
HP:0000656	Ectropion	7051	TGM1	OMIM:242300
HP:0000656	Ectropion	7051	TGM1	ORPHA:100976
HP:0000656	Ectropion	7051	TGM1	ORPHA:79394
HP:0000656	Ectropion	7051	TGM1	ORPHA:313
HP:0000656	Ectropion	26154	ABCA12	OMIM:242500
HP:0000656	Ectropion	26154	ABCA12	ORPHA:457
HP:0000656	Ectropion	26154	ABCA12	OMIM:601277
HP:0000656	Ectropion	26154	ABCA12	ORPHA:79394
HP:0000656	Ectropion	26154	ABCA12	ORPHA:313
HP:0000656	Ectropion	348938	NIPAL4	OMIM:612281
HP:0000656	Ectropion	348938	NIPAL4	ORPHA:79394
HP:0000656	Ectropion	348938	NIPAL4	ORPHA:313
HP:0000656	Ectropion	57003	CCDC47	OMIM:618268
HP:0000656	Ectropion	5339	PLEC	OMIM:226730
HP:0000656	Ectropion	3691	ITGB4	OMIM:226730
HP:0000656	Ectropion	3691	ITGB4	ORPHA:79403
HP:0000656	Ectropion	10526	IPO8	OMIM:619472
HP:0000656	Ectropion	2629	GBA1	ORPHA:85212
HP:0000656	Ectropion	1643	DDB2	OMIM:278740
HP:0000656	Ectropion	1643	DDB2	ORPHA:910
HP:0000656	Ectropion	79092	CARD14	OMIM:173200
HP:0000656	Ectropion	117581	TWIST2	OMIM:209885
HP:0000656	Ectropion	117581	TWIST2	ORPHA:1231
HP:0000656	Ectropion	11128	POLR3A	OMIM:264090
HP:0000656	Ectropion	7507	XPA	OMIM:278700
HP:0000656	Ectropion	7507	XPA	ORPHA:910
HP:0000656	Ectropion	51099	ABHD5	OMIM:275630
HP:0000656	Ectropion	51099	ABHD5	ORPHA:98907
HP:0000656	Ectropion	3655	ITGA6	ORPHA:79403
HP:0000656	Ectropion	51360	MBTPS2	OMIM:308800
HP:0000656	Ectropion	267010	RNU12	OMIM:603116
HP:0000656	Ectropion	5429	POLH	OMIM:278750
HP:0000656	Ectropion	4038	LRP4	ORPHA:3258
HP:0000656	Ectropion	324	APC	ORPHA:3258
HP:0000656	Ectropion	668	FOXL2	ORPHA:572333
HP:0000656	Ectropion	1493	CTLA4	ORPHA:3162
HP:0000656	Ectropion	940	CD28	ORPHA:3162
HP:0000656	Ectropion	7133	TNFRSF1B	ORPHA:3162
HP:0000656	Ectropion	55612	FERMT1	ORPHA:2908
HP:0000656	Ectropion	2074	ERCC6	OMIM:278800
HP:0000656	Ectropion	404672	GTF2H5	ORPHA:33364
HP:0000656	Ectropion	404672	GTF2H5	OMIM:616395
HP:0000656	Ectropion	833	CARS1	ORPHA:33364
HP:0000656	Ectropion	2068	ERCC2	ORPHA:33364
HP:0000656	Ectropion	2068	ERCC2	OMIM:278730
HP:0000656	Ectropion	2068	ERCC2	ORPHA:910
HP:0000656	Ectropion	7737	RNF113A	ORPHA:33364
HP:0000656	Ectropion	136647	MPLKIP	ORPHA:33364
HP:0000656	Ectropion	6897	TARS1	ORPHA:33364
HP:0000656	Ectropion	2071	ERCC3	ORPHA:33364
HP:0000656	Ectropion	2071	ERCC3	ORPHA:910
HP:0000656	Ectropion	2961	GTF2E2	ORPHA:33364
HP:0000656	Ectropion	2303	FOXC2	ORPHA:33001
HP:0000656	Ectropion	2303	FOXC2	OMIM:153400
HP:0000656	Ectropion	7508	XPC	OMIM:278720
HP:0000656	Ectropion	7508	XPC	ORPHA:910
HP:0000656	Ectropion	3858	KRT10	OMIM:609165
HP:0000656	Ectropion	7389	UROD	ORPHA:95159
HP:0000656	Ectropion	204219	CERS3	OMIM:615023
HP:0000656	Ectropion	204219	CERS3	ORPHA:79394
HP:0000656	Ectropion	54101	RIPK4	OMIM:263650
HP:0000656	Ectropion	285848	PNPLA1	ORPHA:79394
HP:0000656	Ectropion	1906	EDN1	OMIM:615706
HP:0000656	Ectropion	7390	UROS	ORPHA:79277
HP:0000656	Ectropion	2623	GATA1	ORPHA:79277
HP:0000656	Ectropion	2313	FLI1	ORPHA:2308
HP:0000656	Ectropion	151516	ASPRV1	ORPHA:313
HP:0000656	Ectropion	126410	CYP4F22	ORPHA:313
HP:0000656	Ectropion	6820	SULT2B1	ORPHA:313
HP:0000656	Ectropion	643418	LIPN	ORPHA:313
HP:0000656	Ectropion	121214	SDR9C7	ORPHA:313
HP:0000656	Ectropion	2072	ERCC4	ORPHA:910
HP:0000656	Ectropion	2073	ERCC5	ORPHA:910
HP:0000656	Ectropion	1748	DLX4	OMIM:616788
HP:0000656	Ectropion	1723	DHODH	ORPHA:246
HP:0000656	Ectropion	23394	ADNP	OMIM:615873
HP:0000656	Ectropion	6045	RNF2	OMIM:619460
HP:0000656	Ectropion	1954	MEGF8	OMIM:614976
HP:0000656	Ectropion	999	CDH1	OMIM:119580
HP:0000656	Ectropion	999	CDH1	ORPHA:1997
HP:0000656	Ectropion	1500	CTNND1	OMIM:617681
HP:0000656	Ectropion	1500	CTNND1	ORPHA:1997
HP:0000656	Ectropion	3190	HNRNPK	ORPHA:453504
HP:0000656	Ectropion	3190	HNRNPK	ORPHA:352665
HP:0000656	Ectropion	998	CDC42	ORPHA:487796
HP:0000656	Ectropion	998	CDC42	OMIM:616737
HP:0000656	Ectropion	8085	KMT2D	ORPHA:2322
HP:0000656	Ectropion	8085	KMT2D	OMIM:147920
HP:0000656	Ectropion	7403	KDM6A	ORPHA:2322
HP:0000656	Ectropion	7403	KDM6A	OMIM:300867
HP:0000656	Ectropion	7403	KDM6A	OMIM:147920
HP:0000656	Ectropion	2892	GRIA3	ORPHA:364028
HP:0000656	Ectropion	4297	KMT2A	OMIM:605130
HP:0000656	Ectropion	19	ABCA1	OMIM:205400
HP:0000658	Eyelid apraxia	8398	PLA2G6	ORPHA:199351
HP:0000658	Eyelid apraxia	8398	PLA2G6	OMIM:612953
HP:0000658	Eyelid apraxia	4137	MAPT	OMIM:601104
HP:0000658	Eyelid apraxia	8867	SYNJ1	OMIM:615530
HP:0000658	Eyelid apraxia	23400	ATP13A2	ORPHA:306674
HP:0000658	Eyelid apraxia	80025	PANK2	OMIM:234200
HP:0000659	Peters anomaly	5309	PITX3	OMIM:107250
HP:0000659	Peters anomaly	5080	PAX6	OMIM:604229
HP:0000659	Peters anomaly	5080	PAX6	ORPHA:250923
HP:0000659	Peters anomaly	5080	PAX6	ORPHA:708
HP:0000659	Peters anomaly	5080	PAX6	OMIM:120200
HP:0000659	Peters anomaly	473	RERE	ORPHA:494344
HP:0000659	Peters anomaly	473	RERE	OMIM:616975
HP:0000659	Peters anomaly	2296	FOXC1	OMIM:601631
HP:0000659	Peters anomaly	2296	FOXC1	ORPHA:250923
HP:0000659	Peters anomaly	2296	FOXC1	ORPHA:708
HP:0000659	Peters anomaly	22884	WDR37	OMIM:618652
HP:0000659	Peters anomaly	29954	POMT2	OMIM:613150
HP:0000659	Peters anomaly	29954	POMT2	OMIM:236670
HP:0000659	Peters anomaly	1349	COX7B	OMIM:309801
HP:0000659	Peters anomaly	3052	HCCS	OMIM:309801
HP:0000659	Peters anomaly	54539	NDUFB11	OMIM:309801
HP:0000659	Peters anomaly	54892	NCAPG2	OMIM:618460
HP:0000659	Peters anomaly	54765	TRIM44	ORPHA:250923
HP:0000659	Peters anomaly	145173	B3GLCT	OMIM:261540
HP:0000659	Peters anomaly	145173	B3GLCT	ORPHA:709
HP:0000659	Peters anomaly	57479	PRR12	OMIM:619539
HP:0000659	Peters anomaly	729920	CRPPA	OMIM:614643
HP:0000659	Peters anomaly	2301	FOXE3	OMIM:610256
HP:0000659	Peters anomaly	2301	FOXE3	ORPHA:708
HP:0000659	Peters anomaly	4094	MAF	OMIM:610202
HP:0000659	Peters anomaly	1545	CYP1B1	ORPHA:708
HP:0000659	Peters anomaly	5308	PITX2	ORPHA:708
HP:0000659	Peters anomaly	1063	CENPF	OMIM:243605
HP:0000659	Peters anomaly	9215	LARGE1	OMIM:236670
HP:0000659	Peters anomaly	79147	FKRP	OMIM:236670
HP:0000659	Peters anomaly	10585	POMT1	OMIM:236670
HP:0000659	Peters anomaly	2218	FKTN	OMIM:236670
HP:0000659	Peters anomaly	1000	CDH2	OMIM:618929
HP:0010871	Sensory ataxia	4359	MPZ	OMIM:618184
HP:0010871	Sensory ataxia	4359	MPZ	OMIM:145900
HP:0010871	Sensory ataxia	5611	DNAJC3	OMIM:616192
HP:0010871	Sensory ataxia	5611	DNAJC3	ORPHA:445062
HP:0010871	Sensory ataxia	5428	POLG	OMIM:607459
HP:0010871	Sensory ataxia	56652	TWNK	OMIM:607459
HP:0010871	Sensory ataxia	56652	TWNK	OMIM:609286
HP:0010871	Sensory ataxia	4669	NAGLU	OMIM:616491
HP:0010871	Sensory ataxia	2821	GPI	OMIM:613470
HP:0010871	Sensory ataxia	63895	PIEZO2	OMIM:617146
HP:0010871	Sensory ataxia	16	AARS1	OMIM:619661
HP:0010871	Sensory ataxia	57716	PRX	OMIM:614895
HP:0010871	Sensory ataxia	57716	PRX	OMIM:145900
HP:0010871	Sensory ataxia	3839	KPNA3	OMIM:620106
HP:0010871	Sensory ataxia	79628	SH3TC2	ORPHA:99949
HP:0010871	Sensory ataxia	81790	RNF170	OMIM:608984
HP:0010871	Sensory ataxia	5376	PMP22	OMIM:145900
HP:0010871	Sensory ataxia	5376	PMP22	ORPHA:101081
HP:0010871	Sensory ataxia	1959	EGR2	OMIM:145900
HP:0010871	Sensory ataxia	7345	UCHL1	OMIM:620221
HP:0010871	Sensory ataxia	28982	FLVCR1	OMIM:609033
HP:0010872	T-wave inversion	4633	MYL2	OMIM:608758
HP:0010872	T-wave inversion	3728	JUP	OMIM:601214
HP:0010872	T-wave inversion	3728	JUP	OMIM:611528
HP:0010872	T-wave inversion	1201	CLN3	ORPHA:228346
HP:0010872	T-wave inversion	51422	PRKAG2	OMIM:261740
HP:0010872	T-wave inversion	2992	GYG1	ORPHA:263297
HP:0010872	T-wave inversion	2992	GYG1	OMIM:613507
HP:0010872	T-wave inversion	4634	MYL3	OMIM:608751
HP:0010873	Cervical spinal cord atrophy	6687	SPG7	ORPHA:35689
HP:0010873	Cervical spinal cord atrophy	2670	GFAP	ORPHA:363722
HP:0010873	Cervical spinal cord atrophy	4747	NEFL	ORPHA:101085
HP:0010873	Cervical spinal cord atrophy	5297	PI4KA	OMIM:619621
HP:0010873	Cervical spinal cord atrophy	2395	FXN	ORPHA:95
HP:0010874	Tendon xanthomatosis	1593	CYP27A1	ORPHA:909
HP:0010874	Tendon xanthomatosis	1593	CYP27A1	OMIM:213700
HP:0010874	Tendon xanthomatosis	3949	LDLR	ORPHA:391665
HP:0010874	Tendon xanthomatosis	3949	LDLR	OMIM:143890
HP:0010874	Tendon xanthomatosis	255738	PCSK9	ORPHA:391665
HP:0010874	Tendon xanthomatosis	255738	PCSK9	OMIM:603776
HP:0010874	Tendon xanthomatosis	26119	LDLRAP1	ORPHA:391665
HP:0010874	Tendon xanthomatosis	26119	LDLRAP1	OMIM:603813
HP:0010874	Tendon xanthomatosis	338	APOB	ORPHA:391665
HP:0010874	Tendon xanthomatosis	64240	ABCG5	ORPHA:391665
HP:0010874	Tendon xanthomatosis	64240	ABCG5	OMIM:618666
HP:0010874	Tendon xanthomatosis	64241	ABCG8	ORPHA:391665
HP:0010874	Tendon xanthomatosis	336	APOA2	OMIM:143890
HP:0010874	Tendon xanthomatosis	2053	EPHX2	OMIM:143890
HP:0010874	Tendon xanthomatosis	10842	PPP1R17	OMIM:143890
HP:0010874	Tendon xanthomatosis	2690	GHR	OMIM:143890
HP:0010874	Tendon xanthomatosis	1071	CETP	ORPHA:79506
HP:0010874	Tendon xanthomatosis	345	APOC3	ORPHA:79506
HP:0010874	Tendon xanthomatosis	7274	TTPA	OMIM:277460
HP:0010874	Tendon xanthomatosis	348	APOE	ORPHA:412
HP:0010874	Tendon xanthomatosis	335	APOA1	OMIM:618463
HP:0010875	Chaddock reflex	26580	BSCL2	OMIM:619112
HP:0010876	Abnormal circulating protein concentration	595	CCND1	ORPHA:29073
HP:0010876	Abnormal circulating protein concentration	83483	PLVAP	OMIM:618183
HP:0010876	Abnormal circulating protein concentration	3376	IARS1	OMIM:617093
HP:0010876	Abnormal circulating protein concentration	10785	WDR4	OMIM:618347
HP:0010876	Abnormal circulating protein concentration	55746	NUP133	OMIM:618349
HP:0010876	Abnormal circulating protein concentration	55746	NUP133	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	84942	WDR73	OMIM:251300
HP:0010876	Abnormal circulating protein concentration	55775	TDP1	ORPHA:94124
HP:0010876	Abnormal circulating protein concentration	55775	TDP1	OMIM:607250
HP:0010876	Abnormal circulating protein concentration	8676	STX11	ORPHA:540
HP:0010876	Abnormal circulating protein concentration	201294	UNC13D	ORPHA:540
HP:0010876	Abnormal circulating protein concentration	6813	STXBP2	ORPHA:540
HP:0010876	Abnormal circulating protein concentration	58484	NLRC4	OMIM:616050
HP:0010876	Abnormal circulating protein concentration	23395	LARS2	OMIM:617021
HP:0010876	Abnormal circulating protein concentration	162	AP1B1	OMIM:242150
HP:0010876	Abnormal circulating protein concentration	396	ARHGDIA	OMIM:615244
HP:0010876	Abnormal circulating protein concentration	396	ARHGDIA	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	1294	COL7A1	ORPHA:89842
HP:0010876	Abnormal circulating protein concentration	65082	VPS33A	OMIM:617303
HP:0010876	Abnormal circulating protein concentration	65082	VPS33A	ORPHA:505248
HP:0010876	Abnormal circulating protein concentration	3459	IFNGR1	OMIM:209950
HP:0010876	Abnormal circulating protein concentration	57122	NUP107	OMIM:616730
HP:0010876	Abnormal circulating protein concentration	57122	NUP107	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	8526	DGKE	OMIM:615008
HP:0010876	Abnormal circulating protein concentration	331	XIAP	OMIM:308240
HP:0010876	Abnormal circulating protein concentration	4068	SH2D1A	OMIM:308240
HP:0010876	Abnormal circulating protein concentration	23607	CD2AP	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	9688	NUP93	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	4643	MYO1E	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	4643	MYO1E	OMIM:614131
HP:0010876	Abnormal circulating protein concentration	26130	GAPVD1	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	7490	WT1	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	51479	ANKFY1	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	54443	ANLN	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	5800	PTPRO	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	5800	PTPRO	OMIM:614196
HP:0010876	Abnormal circulating protein concentration	286204	CRB2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	23165	NUP205	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	2013	EMP2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	79023	NUP37	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	51196	PLCE1	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	51196	PLCE1	OMIM:610725
HP:0010876	Abnormal circulating protein concentration	79902	NUP85	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	1285	COL4A3	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	79934	COQ8B	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	79934	COQ8B	OMIM:615573
HP:0010876	Abnormal circulating protein concentration	23279	NUP160	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	9863	MAGI2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	9863	MAGI2	OMIM:617609
HP:0010876	Abnormal circulating protein concentration	81	ACTN4	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	81	ACTN4	OMIM:603278
HP:0010876	Abnormal circulating protein concentration	7225	TRPC6	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	8542	APOL1	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	54885	TBC1D8B	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	7827	NPHS2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	7827	NPHS2	OMIM:600995
HP:0010876	Abnormal circulating protein concentration	83478	ARHGAP24	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	23500	DAAM2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	5076	PAX2	ORPHA:656
HP:0010876	Abnormal circulating protein concentration	55687	TRMU	OMIM:613070
HP:0010876	Abnormal circulating protein concentration	2859	GPR35	ORPHA:171
HP:0010876	Abnormal circulating protein concentration	10507	SEMA4D	ORPHA:171
HP:0010876	Abnormal circulating protein concentration	4485	MST1	ORPHA:171
HP:0010876	Abnormal circulating protein concentration	6925	TCF4	ORPHA:171
HP:0010876	Abnormal circulating protein concentration	4089	SMAD4	OMIM:174900
HP:0010876	Abnormal circulating protein concentration	657	BMPR1A	OMIM:174900
HP:0010876	Abnormal circulating protein concentration	657	BMPR1A	ORPHA:79076
HP:0010876	Abnormal circulating protein concentration	6578	SLCO2A1	OMIM:614441
HP:0010876	Abnormal circulating protein concentration	7019	TFAM	OMIM:617156
HP:0010876	Abnormal circulating protein concentration	3394	IRF8	OMIM:226990
HP:0010876	Abnormal circulating protein concentration	26007	TKFC	OMIM:618805
HP:0010876	Abnormal circulating protein concentration	1717	DHCR7	OMIM:270400
HP:0010876	Abnormal circulating protein concentration	4547	MTTP	ORPHA:14
HP:0010876	Abnormal circulating protein concentration	4645	MYO5B	OMIM:619868
HP:0010876	Abnormal circulating protein concentration	5728	PTEN	ORPHA:79076
HP:0010876	Abnormal circulating protein concentration	950	SCARB2	OMIM:254900
HP:0010876	Abnormal circulating protein concentration	79053	ALG8	OMIM:608104
HP:0010876	Abnormal circulating protein concentration	55644	OSGEP	OMIM:617729
HP:0010876	Abnormal circulating protein concentration	51128	SAR1B	OMIM:246700
HP:0010876	Abnormal circulating protein concentration	8879	SGPL1	OMIM:617575
HP:0010876	Abnormal circulating protein concentration	10056	FARSB	OMIM:613658
HP:0010876	Abnormal circulating protein concentration	2335	FN1	ORPHA:84090
HP:0010876	Abnormal circulating protein concentration	3675	ITGA3	OMIM:614748
HP:0010876	Abnormal circulating protein concentration	56052	ALG1	ORPHA:79327
HP:0010876	Abnormal circulating protein concentration	3594	IL12RB1	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	23534	TNPO3	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	3592	IL12A	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	6689	SPIB	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	5450	POU2AF1	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	9966	TNFSF15	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	79258	MMEL1	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	3663	IRF5	ORPHA:186
HP:0010876	Abnormal circulating protein concentration	100147744	RNU7-1	OMIM:619487
HP:0010876	Abnormal circulating protein concentration	540	ATP7B	OMIM:277900
HP:0010876	Abnormal circulating protein concentration	4351	MPI	ORPHA:79319
HP:0010876	Abnormal circulating protein concentration	4351	MPI	OMIM:602579
HP:0010876	Abnormal circulating protein concentration	57107	PDSS2	ORPHA:255249
HP:0010876	Abnormal circulating protein concentration	57107	PDSS2	OMIM:614652
HP:0010876	Abnormal circulating protein concentration	79989	IFT56	OMIM:619534
HP:0010876	Abnormal circulating protein concentration	11284	PNKP	OMIM:616267
HP:0010876	Abnormal circulating protein concentration	9652	SKIC3	OMIM:222470
HP:0010876	Abnormal circulating protein concentration	2193	FARSA	OMIM:619013
HP:0010876	Abnormal circulating protein concentration	125988	MICOS13	OMIM:618329
HP:0010876	Abnormal circulating protein concentration	50943	FOXP3	ORPHA:37042
HP:0010876	Abnormal circulating protein concentration	29929	ALG6	ORPHA:79320
HP:0010876	Abnormal circulating protein concentration	2072	ERCC4	OMIM:610965
HP:0010876	Abnormal circulating protein concentration	147372	CCBE1	OMIM:235510
HP:0010876	Abnormal circulating protein concentration	79087	ALG12	ORPHA:79324
HP:0010876	Abnormal circulating protein concentration	9451	EIF2AK3	ORPHA:1667
HP:0010876	Abnormal circulating protein concentration	6850	SYK	OMIM:619381
HP:0010876	Abnormal circulating protein concentration	8694	DGAT1	OMIM:615863
HP:0010876	Abnormal circulating protein concentration	1828	DSG1	OMIM:615508
HP:0010876	Abnormal circulating protein concentration	3852	KRT5	ORPHA:79396
HP:0010876	Abnormal circulating protein concentration	3861	KRT14	ORPHA:79396
HP:0010876	Abnormal circulating protein concentration	9722	NOS1AP	OMIM:619155
HP:0010876	Abnormal circulating protein concentration	54914	FOCAD	OMIM:619991
HP:0010876	Abnormal circulating protein concentration	10165	SLC25A13	ORPHA:247585
HP:0010876	Abnormal circulating protein concentration	3913	LAMB2	OMIM:609049
HP:0010876	Abnormal circulating protein concentration	197131	UBR1	ORPHA:2315
HP:0010876	Abnormal circulating protein concentration	1130	LYST	ORPHA:167
HP:0010876	Abnormal circulating protein concentration	64421	DCLRE1C	OMIM:603554
HP:0010876	Abnormal circulating protein concentration	5896	RAG1	OMIM:603554
HP:0010876	Abnormal circulating protein concentration	5897	RAG2	OMIM:603554
HP:0010876	Abnormal circulating protein concentration	5551	PRF1	OMIM:603553
HP:0010876	Abnormal circulating protein concentration	567	B2M	OMIM:241600
HP:0010876	Abnormal circulating protein concentration	1604	CD55	OMIM:226300
HP:0010876	Abnormal circulating protein concentration	5651	TMPRSS15	OMIM:226200
HP:0010876	Abnormal circulating protein concentration	4868	NPHS1	OMIM:256300
HP:0010876	Abnormal circulating protein concentration	9015	TAF1A	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	5663	PSEN1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	6389	SDHA	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7112	TMPO	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	9464	HAND2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	4625	MYH7	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	4625	MYH7	OMIM:160500
HP:0010876	Abnormal circulating protein concentration	4625	MYH7	OMIM:255160
HP:0010876	Abnormal circulating protein concentration	4625	MYH7	ORPHA:437572
HP:0010876	Abnormal circulating protein concentration	88	ACTN2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	88	ACTN2	OMIM:618655
HP:0010876	Abnormal circulating protein concentration	10486	CAP2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	10060	ABCC9	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7168	TPM1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7414	VCL	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1832	DSP	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	70	ACTC1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	27063	ANKRD1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	8048	CSRP3	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1410	CRYAB	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1410	CRYAB	OMIM:608810
HP:0010876	Abnormal circulating protein concentration	1410	CRYAB	OMIM:615184
HP:0010876	Abnormal circulating protein concentration	1410	CRYAB	OMIM:613869
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	OMIM:181350
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	OMIM:613205
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	ORPHA:98855
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	ORPHA:98853
HP:0010876	Abnormal circulating protein concentration	4000	LMNA	OMIM:616516
HP:0010876	Abnormal circulating protein concentration	7139	TNNT2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1829	DSG2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	3910	LAMA4	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	63976	PRDM16	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7273	TTN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7273	TTN	OMIM:608807
HP:0010876	Abnormal circulating protein concentration	7273	TTN	OMIM:603689
HP:0010876	Abnormal circulating protein concentration	7273	TTN	OMIM:611705
HP:0010876	Abnormal circulating protein concentration	7273	TTN	ORPHA:178464
HP:0010876	Abnormal circulating protein concentration	10587	TXNRD2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	9531	BAG3	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	9531	BAG3	OMIM:612954
HP:0010876	Abnormal circulating protein concentration	5350	PLN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	91624	NEXN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	79717	PPCS	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	5664	PSEN2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	4624	MYH6	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	9529	BAG5	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	4607	MYBPC3	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	282996	RBM20	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7137	TNNI3	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	11155	LDB3	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	11155	LDB3	OMIM:609452
HP:0010876	Abnormal circulating protein concentration	2274	FHL2	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	6901	TAFAZZIN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	22845	DOLK	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	5894	RAF1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1756	DMD	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1756	DMD	OMIM:310200
HP:0010876	Abnormal circulating protein concentration	1756	DMD	ORPHA:98895
HP:0010876	Abnormal circulating protein concentration	1756	DMD	ORPHA:98896
HP:0010876	Abnormal circulating protein concentration	1756	DMD	ORPHA:206546
HP:0010876	Abnormal circulating protein concentration	1756	DMD	OMIM:300376
HP:0010876	Abnormal circulating protein concentration	57798	GATAD1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	7134	TNNC1	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	84665	MYPN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1674	DES	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	1674	DES	OMIM:604765
HP:0010876	Abnormal circulating protein concentration	6444	SGCD	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	6444	SGCD	OMIM:601287
HP:0010876	Abnormal circulating protein concentration	6444	SGCD	OMIM:606685
HP:0010876	Abnormal circulating protein concentration	6331	SCN5A	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	OMIM:236670
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	OMIM:611615
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	OMIM:253800
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	OMIM:611588
HP:0010876	Abnormal circulating protein concentration	2218	FKTN	OMIM:613152
HP:0010876	Abnormal circulating protein concentration	8557	TCAP	ORPHA:154
HP:0010876	Abnormal circulating protein concentration	8557	TCAP	OMIM:601954
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	OMIM:615350
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	OMIM:615351
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	OMIM:615352
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	ORPHA:370968
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	ORPHA:353327
HP:0010876	Abnormal circulating protein concentration	29925	GMPPB	ORPHA:363623
HP:0010876	Abnormal circulating protein concentration	3094	HINT1	ORPHA:324442
HP:0010876	Abnormal circulating protein concentration	3094	HINT1	OMIM:137200
HP:0010876	Abnormal circulating protein concentration	8106	PABPN1	ORPHA:270
HP:0010876	Abnormal circulating protein concentration	8106	PABPN1	OMIM:164300
HP:0010876	Abnormal circulating protein concentration	7415	VCP	OMIM:616687
HP:0010876	Abnormal circulating protein concentration	7415	VCP	OMIM:167320
HP:0010876	Abnormal circulating protein concentration	7415	VCP	ORPHA:435387
HP:0010876	Abnormal circulating protein concentration	7415	VCP	OMIM:613954
HP:0010876	Abnormal circulating protein concentration	7415	VCP	ORPHA:52430
HP:0010876	Abnormal circulating protein concentration	60684	TRAPPC11	OMIM:615356
HP:0010876	Abnormal circulating protein concentration	400916	CHCHD10	OMIM:616209
HP:0010876	Abnormal circulating protein concentration	400916	CHCHD10	OMIM:615048
HP:0010876	Abnormal circulating protein concentration	400916	CHCHD10	ORPHA:276435
HP:0010876	Abnormal circulating protein concentration	5361	PLXNA1	OMIM:619955
HP:0010876	Abnormal circulating protein concentration	55733	HHAT	OMIM:600092
HP:0010876	Abnormal circulating protein concentration	8291	DYSF	OMIM:253601
HP:0010876	Abnormal circulating protein concentration	8291	DYSF	ORPHA:268
HP:0010876	Abnormal circulating protein concentration	8291	DYSF	OMIM:254130
HP:0010876	Abnormal circulating protein concentration	8291	DYSF	OMIM:606768
HP:0010876	Abnormal circulating protein concentration	825	CAPN3	OMIM:253600
HP:0010876	Abnormal circulating protein concentration	825	CAPN3	ORPHA:267
HP:0010876	Abnormal circulating protein concentration	825	CAPN3	OMIM:618129
HP:0010876	Abnormal circulating protein concentration	22947	DUX4L1	ORPHA:269
HP:0010876	Abnormal circulating protein concentration	1789	DNMT3B	ORPHA:269
HP:0010876	Abnormal circulating protein concentration	2483	FRG1	ORPHA:269
HP:0010876	Abnormal circulating protein concentration	2483	FRG1	OMIM:158900
HP:0010876	Abnormal circulating protein concentration	23347	SMCHD1	ORPHA:269
HP:0010876	Abnormal circulating protein concentration	100288687	DUX4	ORPHA:269
HP:0010876	Abnormal circulating protein concentration	9499	MYOT	ORPHA:266
HP:0010876	Abnormal circulating protein concentration	9499	MYOT	OMIM:609200
HP:0010876	Abnormal circulating protein concentration	9499	MYOT	ORPHA:98911
HP:0010876	Abnormal circulating protein concentration	5339	PLEC	ORPHA:254361
HP:0010876	Abnormal circulating protein concentration	5339	PLEC	OMIM:613723
HP:0010876	Abnormal circulating protein concentration	5339	PLEC	ORPHA:158684
HP:0010876	Abnormal circulating protein concentration	3074	HEXB	ORPHA:309169
HP:0010876	Abnormal circulating protein concentration	1785	DNM2	OMIM:615368
HP:0010876	Abnormal circulating protein concentration	84466	MEGF10	OMIM:614399
HP:0010876	Abnormal circulating protein concentration	84197	POMK	OMIM:615249
HP:0010876	Abnormal circulating protein concentration	84197	POMK	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	84197	POMK	OMIM:616094
HP:0010876	Abnormal circulating protein concentration	22954	TRIM32	ORPHA:1878
HP:0010876	Abnormal circulating protein concentration	22954	TRIM32	OMIM:254110
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	OMIM:606612
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	ORPHA:34515
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	OMIM:236670
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	ORPHA:370968
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	OMIM:607155
HP:0010876	Abnormal circulating protein concentration	79147	FKRP	OMIM:613153
HP:0010876	Abnormal circulating protein concentration	55154	MSTO1	OMIM:617675
HP:0010876	Abnormal circulating protein concentration	311	ANXA11	OMIM:619733
HP:0010876	Abnormal circulating protein concentration	29958	DMGDH	ORPHA:243343
HP:0010876	Abnormal circulating protein concentration	29958	DMGDH	OMIM:605850
HP:0010876	Abnormal circulating protein concentration	6445	SGCG	OMIM:253700
HP:0010876	Abnormal circulating protein concentration	6445	SGCG	ORPHA:353
HP:0010876	Abnormal circulating protein concentration	1605	DAG1	ORPHA:280333
HP:0010876	Abnormal circulating protein concentration	1605	DAG1	ORPHA:370997
HP:0010876	Abnormal circulating protein concentration	1605	DAG1	OMIM:613818
HP:0010876	Abnormal circulating protein concentration	1605	DAG1	OMIM:616538
HP:0010876	Abnormal circulating protein concentration	1303	COL12A1	OMIM:616471
HP:0010876	Abnormal circulating protein concentration	1303	COL12A1	ORPHA:610
HP:0010876	Abnormal circulating protein concentration	1303	COL12A1	ORPHA:75840
HP:0010876	Abnormal circulating protein concentration	7386	UQCRFS1	OMIM:618775
HP:0010876	Abnormal circulating protein concentration	5442	POLRMT	OMIM:619743
HP:0010876	Abnormal circulating protein concentration	83636	C19orf12	OMIM:614298
HP:0010876	Abnormal circulating protein concentration	5224	PGAM2	OMIM:261670
HP:0010876	Abnormal circulating protein concentration	844	CASQ1	OMIM:616231
HP:0010876	Abnormal circulating protein concentration	844	CASQ1	ORPHA:88635
HP:0010876	Abnormal circulating protein concentration	246243	RNASEH1	OMIM:616479
HP:0010876	Abnormal circulating protein concentration	54840	APTX	OMIM:208920
HP:0010876	Abnormal circulating protein concentration	79731	NARS2	OMIM:616239
HP:0010876	Abnormal circulating protein concentration	284439	SLC25A42	OMIM:618416
HP:0010876	Abnormal circulating protein concentration	4359	MPZ	ORPHA:101082
HP:0010876	Abnormal circulating protein concentration	59341	TRPV4	OMIM:600175
HP:0010876	Abnormal circulating protein concentration	6261	RYR1	ORPHA:597
HP:0010876	Abnormal circulating protein concentration	6261	RYR1	OMIM:619542
HP:0010876	Abnormal circulating protein concentration	6261	RYR1	ORPHA:424107
HP:0010876	Abnormal circulating protein concentration	6261	RYR1	OMIM:145600
HP:0010876	Abnormal circulating protein concentration	6261	RYR1	ORPHA:466650
HP:0010876	Abnormal circulating protein concentration	1763	DNA2	OMIM:615156
HP:0010876	Abnormal circulating protein concentration	9453	GGPS1	OMIM:619518
HP:0010876	Abnormal circulating protein concentration	148789	B3GALNT2	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	148789	B3GALNT2	OMIM:615181
HP:0010876	Abnormal circulating protein concentration	9215	LARGE1	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	9215	LARGE1	OMIM:236670
HP:0010876	Abnormal circulating protein concentration	9215	LARGE1	ORPHA:370968
HP:0010876	Abnormal circulating protein concentration	9215	LARGE1	OMIM:608840
HP:0010876	Abnormal circulating protein concentration	9215	LARGE1	OMIM:613154
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	OMIM:236670
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	ORPHA:370968
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	ORPHA:206559
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	OMIM:613150
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	OMIM:613156
HP:0010876	Abnormal circulating protein concentration	29954	POMT2	OMIM:613158
HP:0010876	Abnormal circulating protein concentration	55624	POMGNT1	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	55624	POMGNT1	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	55624	POMGNT1	OMIM:253280
HP:0010876	Abnormal circulating protein concentration	55624	POMGNT1	OMIM:613151
HP:0010876	Abnormal circulating protein concentration	55624	POMGNT1	OMIM:613157
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	ORPHA:588
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	OMIM:236670
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	ORPHA:370968
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	ORPHA:370959
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	OMIM:609308
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	ORPHA:86812
HP:0010876	Abnormal circulating protein concentration	10585	POMT1	OMIM:613155
HP:0010876	Abnormal circulating protein concentration	8818	DPM2	OMIM:615042
HP:0010876	Abnormal circulating protein concentration	8818	DPM2	ORPHA:329178
HP:0010876	Abnormal circulating protein concentration	11041	B4GAT1	OMIM:615287
HP:0010876	Abnormal circulating protein concentration	56652	TWNK	OMIM:616138
HP:0010876	Abnormal circulating protein concentration	56652	TWNK	ORPHA:254892
HP:0010876	Abnormal circulating protein concentration	10342	TFG	ORPHA:90117
HP:0010876	Abnormal circulating protein concentration	10531	PITRM1	OMIM:619405
HP:0010876	Abnormal circulating protein concentration	2683	B4GALT1	ORPHA:79332
HP:0010876	Abnormal circulating protein concentration	2683	B4GALT1	OMIM:607091
HP:0010876	Abnormal circulating protein concentration	91949	COG7	ORPHA:79333
HP:0010876	Abnormal circulating protein concentration	91949	COG7	OMIM:608779
HP:0010876	Abnormal circulating protein concentration	57104	PNPLA2	OMIM:610717
HP:0010876	Abnormal circulating protein concentration	57104	PNPLA2	ORPHA:565612
HP:0010876	Abnormal circulating protein concentration	57724	EPG5	OMIM:242840
HP:0010876	Abnormal circulating protein concentration	23299	BICD2	OMIM:615290
HP:0010876	Abnormal circulating protein concentration	339855	KY	OMIM:617114
HP:0010876	Abnormal circulating protein concentration	56983	POGLUT1	OMIM:617232
HP:0010876	Abnormal circulating protein concentration	859	CAV3	OMIM:123320
HP:0010876	Abnormal circulating protein concentration	859	CAV3	ORPHA:206599
HP:0010876	Abnormal circulating protein concentration	859	CAV3	OMIM:606072
HP:0010876	Abnormal circulating protein concentration	859	CAV3	OMIM:614321
HP:0010876	Abnormal circulating protein concentration	5213	PFKM	OMIM:232800
HP:0010876	Abnormal circulating protein concentration	3339	HSPG2	OMIM:255800
HP:0010876	Abnormal circulating protein concentration	3339	HSPG2	ORPHA:800
HP:0010876	Abnormal circulating protein concentration	8813	DPM1	ORPHA:79322
HP:0010876	Abnormal circulating protein concentration	8813	DPM1	OMIM:608799
HP:0010876	Abnormal circulating protein concentration	9526	MPDU1	ORPHA:79323
HP:0010876	Abnormal circulating protein concentration	5837	PYGM	ORPHA:368
HP:0010876	Abnormal circulating protein concentration	5837	PYGM	OMIM:232600
HP:0010876	Abnormal circulating protein concentration	4633	MYL2	OMIM:619424
HP:0010876	Abnormal circulating protein concentration	5256	PHKA2	ORPHA:264580
HP:0010876	Abnormal circulating protein concentration	5261	PHKG2	ORPHA:264580
HP:0010876	Abnormal circulating protein concentration	51693	TRAPPC2L	OMIM:618331
HP:0010876	Abnormal circulating protein concentration	58497	PRUNE1	ORPHA:544469
HP:0010876	Abnormal circulating protein concentration	6443	SGCB	ORPHA:119
HP:0010876	Abnormal circulating protein concentration	6443	SGCB	OMIM:604286
HP:0010876	Abnormal circulating protein concentration	389827	MYMK	OMIM:254940
HP:0010876	Abnormal circulating protein concentration	8803	SUCLA2	ORPHA:1933
HP:0010876	Abnormal circulating protein concentration	8803	SUCLA2	OMIM:612073
HP:0010876	Abnormal circulating protein concentration	58	ACTA1	ORPHA:97240
HP:0010876	Abnormal circulating protein concentration	58	ACTA1	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	291	SLC25A4	ORPHA:254892
HP:0010876	Abnormal circulating protein concentration	291	SLC25A4	OMIM:615418
HP:0010876	Abnormal circulating protein concentration	5428	POLG	ORPHA:254892
HP:0010876	Abnormal circulating protein concentration	5428	POLG	OMIM:258450
HP:0010876	Abnormal circulating protein concentration	5428	POLG	ORPHA:254886
HP:0010876	Abnormal circulating protein concentration	11232	POLG2	ORPHA:254892
HP:0010876	Abnormal circulating protein concentration	11232	POLG2	OMIM:610131
HP:0010876	Abnormal circulating protein concentration	50484	RRM2B	ORPHA:254892
HP:0010876	Abnormal circulating protein concentration	353116	RILPL1	OMIM:619790
HP:0010876	Abnormal circulating protein concentration	10020	GNE	OMIM:605820
HP:0010876	Abnormal circulating protein concentration	23516	SLC39A14	OMIM:617013
HP:0010876	Abnormal circulating protein concentration	160418	TMTC3	OMIM:617255
HP:0010876	Abnormal circulating protein concentration	79912	PYROXD1	OMIM:617258
HP:0010876	Abnormal circulating protein concentration	203547	VMA21	OMIM:310440
HP:0010876	Abnormal circulating protein concentration	10102	TSFM	OMIM:610505
HP:0010876	Abnormal circulating protein concentration	6442	SGCA	OMIM:608099
HP:0010876	Abnormal circulating protein concentration	6442	SGCA	ORPHA:62
HP:0010876	Abnormal circulating protein concentration	10049	DNAJB6	OMIM:603511
HP:0010876	Abnormal circulating protein concentration	1120	CHKB	OMIM:602541
HP:0010876	Abnormal circulating protein concentration	7555	CNBP	OMIM:602668
HP:0010876	Abnormal circulating protein concentration	7084	TK2	ORPHA:254886
HP:0010876	Abnormal circulating protein concentration	7084	TK2	OMIM:617069
HP:0010876	Abnormal circulating protein concentration	7084	TK2	OMIM:609560
HP:0010876	Abnormal circulating protein concentration	3714	JAG2	OMIM:619566
HP:0010876	Abnormal circulating protein concentration	729920	CRPPA	OMIM:616052
HP:0010876	Abnormal circulating protein concentration	729920	CRPPA	OMIM:614643
HP:0010876	Abnormal circulating protein concentration	92667	MGME1	OMIM:615084
HP:0010876	Abnormal circulating protein concentration	92667	MGME1	ORPHA:352447
HP:0010876	Abnormal circulating protein concentration	8867	SYNJ1	OMIM:617389
HP:0010876	Abnormal circulating protein concentration	63895	PIEZO2	OMIM:617146
HP:0010876	Abnormal circulating protein concentration	3939	LDHA	OMIM:612933
HP:0010876	Abnormal circulating protein concentration	2027	ENO3	OMIM:612932
HP:0010876	Abnormal circulating protein concentration	54344	DPM3	OMIM:612937
HP:0010876	Abnormal circulating protein concentration	6904	TBCD	ORPHA:496641
HP:0010876	Abnormal circulating protein concentration	6904	TBCD	OMIM:617193
HP:0010876	Abnormal circulating protein concentration	427	ASAH1	OMIM:159950
HP:0010876	Abnormal circulating protein concentration	8878	SQSTM1	OMIM:617158
HP:0010876	Abnormal circulating protein concentration	513	ATP5F1D	OMIM:618120
HP:0010876	Abnormal circulating protein concentration	2010	EMD	OMIM:310300
HP:0010876	Abnormal circulating protein concentration	2010	EMD	ORPHA:98863
HP:0010876	Abnormal circulating protein concentration	6821	SUOX	OMIM:272300
HP:0010876	Abnormal circulating protein concentration	112812	FDX2	OMIM:251900
HP:0010876	Abnormal circulating protein concentration	191	AHCY	ORPHA:88618
HP:0010876	Abnormal circulating protein concentration	6329	SCN4A	ORPHA:682
HP:0010876	Abnormal circulating protein concentration	6329	SCN4A	OMIM:608390
HP:0010876	Abnormal circulating protein concentration	84892	POMGNT2	OMIM:618135
HP:0010876	Abnormal circulating protein concentration	7317	UBA1	OMIM:301830
HP:0010876	Abnormal circulating protein concentration	58472	SQOR	OMIM:619221
HP:0010876	Abnormal circulating protein concentration	2992	GYG1	OMIM:616199
HP:0010876	Abnormal circulating protein concentration	390594	KBTBD13	OMIM:609273
HP:0010876	Abnormal circulating protein concentration	3908	LAMA2	OMIM:618138
HP:0010876	Abnormal circulating protein concentration	3908	LAMA2	OMIM:607855
HP:0010876	Abnormal circulating protein concentration	8398	PLA2G6	OMIM:612953
HP:0010876	Abnormal circulating protein concentration	8425	LTBP4	ORPHA:98896
HP:0010876	Abnormal circulating protein concentration	65260	COA7	OMIM:618387
HP:0010876	Abnormal circulating protein concentration	51241	COX16	OMIM:619355
HP:0010876	Abnormal circulating protein concentration	37	ACADVL	OMIM:201475
HP:0010876	Abnormal circulating protein concentration	37	ACADVL	ORPHA:26793
HP:0010876	Abnormal circulating protein concentration	55697	VAC14	OMIM:617054
HP:0010876	Abnormal circulating protein concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0010876	Abnormal circulating protein concentration	788	SLC25A20	OMIM:212138
HP:0010876	Abnormal circulating protein concentration	7504	XK	OMIM:300842
HP:0010876	Abnormal circulating protein concentration	23230	VPS13A	OMIM:200150
HP:0010876	Abnormal circulating protein concentration	23230	VPS13A	ORPHA:2388
HP:0010876	Abnormal circulating protein concentration	6786	STIM1	OMIM:185070
HP:0010876	Abnormal circulating protein concentration	6786	STIM1	OMIM:160565
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	OMIM:300718
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	OMIM:300717
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	OMIM:300696
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	OMIM:300695
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	ORPHA:98863
HP:0010876	Abnormal circulating protein concentration	2273	FHL1	OMIM:300280
HP:0010876	Abnormal circulating protein concentration	226	ALDOA	OMIM:611881
HP:0010876	Abnormal circulating protein concentration	3030	HADHA	OMIM:609015
HP:0010876	Abnormal circulating protein concentration	1291	COL6A1	ORPHA:610
HP:0010876	Abnormal circulating protein concentration	1291	COL6A1	OMIM:158810
HP:0010876	Abnormal circulating protein concentration	1291	COL6A1	ORPHA:75840
HP:0010876	Abnormal circulating protein concentration	1292	COL6A2	ORPHA:610
HP:0010876	Abnormal circulating protein concentration	1292	COL6A2	OMIM:158810
HP:0010876	Abnormal circulating protein concentration	1292	COL6A2	ORPHA:75840
HP:0010876	Abnormal circulating protein concentration	1292	COL6A2	OMIM:255600
HP:0010876	Abnormal circulating protein concentration	1293	COL6A3	ORPHA:610
HP:0010876	Abnormal circulating protein concentration	1293	COL6A3	OMIM:158810
HP:0010876	Abnormal circulating protein concentration	1293	COL6A3	ORPHA:75840
HP:0010876	Abnormal circulating protein concentration	26092	TOR1AIP1	OMIM:617072
HP:0010876	Abnormal circulating protein concentration	1716	DGUOK	OMIM:617070
HP:0010876	Abnormal circulating protein concentration	5236	PGM1	OMIM:614921
HP:0010876	Abnormal circulating protein concentration	1282	COL4A1	OMIM:611773
HP:0010876	Abnormal circulating protein concentration	1282	COL4A1	OMIM:175780
HP:0010876	Abnormal circulating protein concentration	1376	CPT2	ORPHA:228302
HP:0010876	Abnormal circulating protein concentration	1376	CPT2	ORPHA:228305
HP:0010876	Abnormal circulating protein concentration	1376	CPT2	ORPHA:228308
HP:0010876	Abnormal circulating protein concentration	1376	CPT2	OMIM:600649
HP:0010876	Abnormal circulating protein concentration	1376	CPT2	OMIM:608836
HP:0010876	Abnormal circulating protein concentration	779	CACNA1S	OMIM:620246
HP:0010876	Abnormal circulating protein concentration	2801	GOLGA2	OMIM:620240
HP:0010876	Abnormal circulating protein concentration	9054	NFS1	OMIM:619386
HP:0010876	Abnormal circulating protein concentration	125170	MIEF2	OMIM:619024
HP:0010876	Abnormal circulating protein concentration	90523	MLIP	OMIM:620138
HP:0010876	Abnormal circulating protein concentration	23224	SYNE2	OMIM:612999
HP:0010876	Abnormal circulating protein concentration	23224	SYNE2	ORPHA:98853
HP:0010876	Abnormal circulating protein concentration	23345	SYNE1	OMIM:612998
HP:0010876	Abnormal circulating protein concentration	23345	SYNE1	ORPHA:98853
HP:0010876	Abnormal circulating protein concentration	203859	ANO5	OMIM:611307
HP:0010876	Abnormal circulating protein concentration	203859	ANO5	ORPHA:206549
HP:0010876	Abnormal circulating protein concentration	203859	ANO5	OMIM:613319
HP:0010876	Abnormal circulating protein concentration	9987	HNRNPDL	OMIM:609115
HP:0010876	Abnormal circulating protein concentration	6584	SLC22A5	OMIM:212140
HP:0010876	Abnormal circulating protein concentration	64374	SIL1	OMIM:248800
HP:0010876	Abnormal circulating protein concentration	3691	ITGB4	ORPHA:158684
HP:0010876	Abnormal circulating protein concentration	80308	FLAD1	OMIM:255100
HP:0010876	Abnormal circulating protein concentration	9782	MATR3	OMIM:606070
HP:0010876	Abnormal circulating protein concentration	6840	SVIL	OMIM:619040
HP:0010876	Abnormal circulating protein concentration	7169	TPM2	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	4703	NEB	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	10324	KLHL41	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	56203	LMOD3	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	1073	CFL2	ORPHA:171436
HP:0010876	Abnormal circulating protein concentration	23600	AMACR	ORPHA:79095
HP:0010876	Abnormal circulating protein concentration	2673	GFPT1	ORPHA:353327
HP:0010876	Abnormal circulating protein concentration	1798	DPAGT1	ORPHA:353327
HP:0010876	Abnormal circulating protein concentration	85365	ALG2	ORPHA:353327
HP:0010876	Abnormal circulating protein concentration	199857	ALG14	ORPHA:353327
HP:0010876	Abnormal circulating protein concentration	3736	KCNA1	ORPHA:972
HP:0010876	Abnormal circulating protein concentration	3736	KCNA1	OMIM:160120
HP:0010876	Abnormal circulating protein concentration	116228	COX20	OMIM:619054
HP:0010876	Abnormal circulating protein concentration	100131801	PET100	OMIM:619055
HP:0010876	Abnormal circulating protein concentration	55858	TMEM165	OMIM:614727
HP:0010876	Abnormal circulating protein concentration	29967	LRP12	OMIM:164310
HP:0010876	Abnormal circulating protein concentration	9570	GOSR2	OMIM:620166
HP:0010876	Abnormal circulating protein concentration	9570	GOSR2	OMIM:614018
HP:0010876	Abnormal circulating protein concentration	7156	TOP3A	OMIM:618098
HP:0010876	Abnormal circulating protein concentration	9131	AIFM1	OMIM:310490
HP:0010876	Abnormal circulating protein concentration	4598	MVK	OMIM:610377
HP:0010876	Abnormal circulating protein concentration	374393	FAM111B	OMIM:615704
HP:0010876	Abnormal circulating protein concentration	4952	OCRL	OMIM:300555
HP:0010876	Abnormal circulating protein concentration	4952	OCRL	OMIM:309000
HP:0010876	Abnormal circulating protein concentration	5255	PHKA1	OMIM:300559
HP:0010876	Abnormal circulating protein concentration	3991	LIPE	ORPHA:435660
HP:0010876	Abnormal circulating protein concentration	3991	LIPE	OMIM:615980
HP:0010876	Abnormal circulating protein concentration	23533	PIK3R5	ORPHA:64753
HP:0010876	Abnormal circulating protein concentration	23064	SETX	ORPHA:64753
HP:0010876	Abnormal circulating protein concentration	23064	SETX	OMIM:606002
HP:0010876	Abnormal circulating protein concentration	4744	NEFH	OMIM:616924
HP:0010876	Abnormal circulating protein concentration	6804	STX1A	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	7461	CLIP2	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	84277	DNAJC30	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	8468	FKBP6	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	5982	RFC2	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	2969	GTF2I	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	3984	LIMK1	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	9569	GTF2IRD1	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	155382	VPS37D	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	155368	METTL27	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	114049	BUD23	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	7458	EIF4H	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	84163	GTF2IRD2	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	9275	BCL7B	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	26608	TBL2	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	653361	NCF1	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	135886	TMEM270	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	51085	MLXIPL	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	9031	BAZ1B	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	2006	ELN	ORPHA:904
HP:0010876	Abnormal circulating protein concentration	84992	PIGY	OMIM:616809
HP:0010876	Abnormal circulating protein concentration	23175	LPIN1	OMIM:268200
HP:0010876	Abnormal circulating protein concentration	6566	SLC16A1	OMIM:245340
HP:0010876	Abnormal circulating protein concentration	2548	GAA	ORPHA:308552
HP:0010876	Abnormal circulating protein concentration	2548	GAA	OMIM:232300
HP:0010876	Abnormal circulating protein concentration	1299	COL9A3	OMIM:600969
HP:0010876	Abnormal circulating protein concentration	5165	PDK3	ORPHA:352675
HP:0010876	Abnormal circulating protein concentration	11149	BVES	OMIM:616812
HP:0010876	Abnormal circulating protein concentration	3178	HNRNPA1	ORPHA:52430
HP:0010876	Abnormal circulating protein concentration	3178	HNRNPA1	OMIM:615424
HP:0010876	Abnormal circulating protein concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0010876	Abnormal circulating protein concentration	3181	HNRNPA2B1	OMIM:615422
HP:0010876	Abnormal circulating protein concentration	34	ACADM	ORPHA:42
HP:0010876	Abnormal circulating protein concentration	1374	CPT1A	OMIM:255120
HP:0010876	Abnormal circulating protein concentration	84317	CCDC115	OMIM:616828
HP:0010876	Abnormal circulating protein concentration	2318	FLNC	OMIM:609524
HP:0010876	Abnormal circulating protein concentration	55679	LIMS2	OMIM:616827
HP:0010876	Abnormal circulating protein concentration	23479	ISCU	OMIM:255125
HP:0010876	Abnormal circulating protein concentration	3679	ITGA7	OMIM:613204
HP:0010876	Abnormal circulating protein concentration	284119	CAVIN1	OMIM:613327
HP:0010876	Abnormal circulating protein concentration	79188	TMEM43	ORPHA:98853
HP:0010876	Abnormal circulating protein concentration	132	ADK	OMIM:614300
HP:0010876	Abnormal circulating protein concentration	79650	USB1	OMIM:604173
HP:0010876	Abnormal circulating protein concentration	55593	OTUD5	OMIM:301056
HP:0010876	Abnormal circulating protein concentration	84876	ORAI1	OMIM:615883
HP:0010876	Abnormal circulating protein concentration	27235	COQ2	OMIM:607426
HP:0010876	Abnormal circulating protein concentration	55033	FKBP14	ORPHA:300179
HP:0010876	Abnormal circulating protein concentration	10616	RBCK1	OMIM:615895
HP:0010876	Abnormal circulating protein concentration	708	C1QBP	OMIM:617713
HP:0010876	Abnormal circulating protein concentration	5257	PHKB	ORPHA:79240
HP:0010876	Abnormal circulating protein concentration	128989	TANGO2	ORPHA:480864
HP:0010876	Abnormal circulating protein concentration	128989	TANGO2	OMIM:616878
HP:0010876	Abnormal circulating protein concentration	84342	COG8	OMIM:611182
HP:0010876	Abnormal circulating protein concentration	57511	COG6	OMIM:614576
HP:0010876	Abnormal circulating protein concentration	64423	INF2	OMIM:614455
HP:0010876	Abnormal circulating protein concentration	760	CA2	ORPHA:2785
HP:0010876	Abnormal circulating protein concentration	10755	GIPC1	OMIM:618940
HP:0010876	Abnormal circulating protein concentration	10367	MICU1	OMIM:615673
HP:0010876	Abnormal circulating protein concentration	81689	ISCA1	OMIM:617613
HP:0010876	Abnormal circulating protein concentration	55278	QRSL1	OMIM:618835
HP:0010876	Abnormal circulating protein concentration	5188	GATB	OMIM:618838
HP:0010876	Abnormal circulating protein concentration	283459	GATC	OMIM:618839
HP:0010876	Abnormal circulating protein concentration	54888	NSUN2	OMIM:611091
HP:0010876	Abnormal circulating protein concentration	3920	LAMP2	OMIM:300257
HP:0010876	Abnormal circulating protein concentration	178	AGL	OMIM:232400
HP:0010876	Abnormal circulating protein concentration	29928	TIMM22	OMIM:618851
HP:0010876	Abnormal circulating protein concentration	4747	NEFL	OMIM:617882
HP:0010876	Abnormal circulating protein concentration	9907	AP5Z1	ORPHA:306511
HP:0010876	Abnormal circulating protein concentration	51763	INPP5K	OMIM:617404
HP:0010876	Abnormal circulating protein concentration	8449	DHX16	OMIM:618733
HP:0010876	Abnormal circulating protein concentration	367	AR	OMIM:313200
HP:0010876	Abnormal circulating protein concentration	284217	LAMA1	ORPHA:370022
HP:0010876	Abnormal circulating protein concentration	4878	NPPA	OMIM:615745
HP:0010876	Abnormal circulating protein concentration	9056	SLC7A7	ORPHA:470
HP:0010876	Abnormal circulating protein concentration	9056	SLC7A7	OMIM:222700
HP:0010876	Abnormal circulating protein concentration	30061	SLC40A1	ORPHA:139491
HP:0010876	Abnormal circulating protein concentration	30061	SLC40A1	OMIM:606069
HP:0010876	Abnormal circulating protein concentration	55388	MCM10	OMIM:619313
HP:0010876	Abnormal circulating protein concentration	55240	STEAP3	OMIM:615234
HP:0010876	Abnormal circulating protein concentration	55240	STEAP3	ORPHA:300298
HP:0010876	Abnormal circulating protein concentration	148738	HJV	OMIM:602390
HP:0010876	Abnormal circulating protein concentration	148738	HJV	ORPHA:79230
HP:0010876	Abnormal circulating protein concentration	9780	PIEZO1	OMIM:194380
HP:0010876	Abnormal circulating protein concentration	9780	PIEZO1	ORPHA:3202
HP:0010876	Abnormal circulating protein concentration	7036	TFR2	OMIM:604250
HP:0010876	Abnormal circulating protein concentration	617	BCS1L	OMIM:603358
HP:0010876	Abnormal circulating protein concentration	617	BCS1L	ORPHA:53693
HP:0010876	Abnormal circulating protein concentration	6573	SLC19A1	OMIM:601775
HP:0010876	Abnormal circulating protein concentration	84868	HAVCR2	OMIM:618398
HP:0010876	Abnormal circulating protein concentration	54977	SLC25A38	OMIM:205950
HP:0010876	Abnormal circulating protein concentration	64135	IFIH1	OMIM:615846
HP:0010876	Abnormal circulating protein concentration	5294	PIK3CG	OMIM:619802
HP:0010876	Abnormal circulating protein concentration	51218	GLRX5	OMIM:616860
HP:0010876	Abnormal circulating protein concentration	3458	IFNG	OMIM:618963
HP:0010876	Abnormal circulating protein concentration	6773	STAT2	OMIM:618886
HP:0010876	Abnormal circulating protein concentration	654	BMP6	ORPHA:465508
HP:0010876	Abnormal circulating protein concentration	654	BMP6	OMIM:620121
HP:0010876	Abnormal circulating protein concentration	3077	HFE	ORPHA:465508
HP:0010876	Abnormal circulating protein concentration	3077	HFE	OMIM:235200
HP:0010876	Abnormal circulating protein concentration	57817	HAMP	OMIM:613313
HP:0010876	Abnormal circulating protein concentration	57817	HAMP	ORPHA:79230
HP:0010876	Abnormal circulating protein concentration	6521	SLC4A1	ORPHA:3202
HP:0010876	Abnormal circulating protein concentration	3783	KCNN4	ORPHA:3202
HP:0010876	Abnormal circulating protein concentration	80324	PUS1	OMIM:600462
HP:0010876	Abnormal circulating protein concentration	3043	HBB	ORPHA:231249
HP:0010876	Abnormal circulating protein concentration	1371	CPOX	OMIM:618892
HP:0010876	Abnormal circulating protein concentration	650	BMP2	OMIM:235200
HP:0010876	Abnormal circulating protein concentration	84572	GNPTG	OMIM:252605
HP:0010876	Abnormal circulating protein concentration	79158	GNPTAB	OMIM:252600
HP:0010876	Abnormal circulating protein concentration	79158	GNPTAB	OMIM:252500
HP:0010876	Abnormal circulating protein concentration	5631	PRPS1	ORPHA:423479
HP:0010876	Abnormal circulating protein concentration	54903	MKS1	OMIM:249000
HP:0010876	Abnormal circulating protein concentration	213	ALB	ORPHA:86816
HP:0010876	Abnormal circulating protein concentration	3827	KNG1	OMIM:228960
HP:0010876	Abnormal circulating protein concentration	55768	NGLY1	OMIM:615273
HP:0010876	Abnormal circulating protein concentration	5311	PKD2	OMIM:613095
HP:0010876	Abnormal circulating protein concentration	2184	FAH	OMIM:276700
HP:0010876	Abnormal circulating protein concentration	124454	EARS2	OMIM:614924
HP:0010876	Abnormal circulating protein concentration	4233	MET	ORPHA:33402
HP:0010876	Abnormal circulating protein concentration	1499	CTNNB1	ORPHA:33402
HP:0010876	Abnormal circulating protein concentration	26137	ZBTB20	OMIM:259050
HP:0010876	Abnormal circulating protein concentration	23556	PIGN	ORPHA:280633
HP:0010876	Abnormal circulating protein concentration	113220	KIF12	OMIM:619662
HP:0010876	Abnormal circulating protein concentration	10459	MAD2L2	OMIM:617243
HP:0010876	Abnormal circulating protein concentration	9971	NR1H4	OMIM:617049
HP:0010876	Abnormal circulating protein concentration	472	ATM	OMIM:208900
HP:0010876	Abnormal circulating protein concentration	165918	RNF168	ORPHA:420741
HP:0010876	Abnormal circulating protein concentration	6794	STK11	OMIM:273300
HP:0010876	Abnormal circulating protein concentration	8915	BCL10	OMIM:273300
HP:0010876	Abnormal circulating protein concentration	3815	KIT	OMIM:273300
HP:0010876	Abnormal circulating protein concentration	2261	FGFR3	OMIM:273300
HP:0010876	Abnormal circulating protein concentration	7072	TIA1	OMIM:604454
HP:0010876	Abnormal circulating protein concentration	7072	TIA1	ORPHA:603
HP:0010876	Abnormal circulating protein concentration	79784	MYH14	ORPHA:397744
HP:0010876	Abnormal circulating protein concentration	79784	MYH14	OMIM:614369
HP:0010876	Abnormal circulating protein concentration	100134444	KCNJ18	ORPHA:79102
HP:0010876	Abnormal circulating protein concentration	2556	GABRA3	ORPHA:79102
HP:0010876	Abnormal circulating protein concentration	274	BIN1	ORPHA:169189
HP:0010876	Abnormal circulating protein concentration	64419	MTMR14	ORPHA:169189
HP:0010876	Abnormal circulating protein concentration	64419	MTMR14	OMIM:160150
HP:0010876	Abnormal circulating protein concentration	4618	MYF6	ORPHA:169189
HP:0010876	Abnormal circulating protein concentration	4568	MT-TL2	ORPHA:663
HP:0010876	Abnormal circulating protein concentration	4567	MT-TL1	ORPHA:663
HP:0010876	Abnormal circulating protein concentration	4570	MT-TN	ORPHA:663
HP:0010876	Abnormal circulating protein concentration	4574	MT-TS1	ORPHA:663
HP:0010876	Abnormal circulating protein concentration	54870	QRICH1	OMIM:617982
HP:0010876	Abnormal circulating protein concentration	10730	YME1L1	OMIM:617302
HP:0010876	Abnormal circulating protein concentration	3033	HADH	ORPHA:71212
HP:0010876	Abnormal circulating protein concentration	4358	MPV17	OMIM:618400
HP:0010876	Abnormal circulating protein concentration	122622	ADSS1	OMIM:617030
HP:0010876	Abnormal circulating protein concentration	57449	PLEKHG5	OMIM:615376
HP:0010876	Abnormal circulating protein concentration	7170	TPM3	ORPHA:171439
HP:0010876	Abnormal circulating protein concentration	55681	SCYL2	ORPHA:1143
HP:0010876	Abnormal circulating protein concentration	84570	COL25A1	ORPHA:1143
HP:0010876	Abnormal circulating protein concentration	57222	ERGIC1	ORPHA:1143
HP:0010876	Abnormal circulating protein concentration	5190	PEX6	ORPHA:95433
HP:0010876	Abnormal circulating protein concentration	10008	KCNE3	ORPHA:681
HP:0010876	Abnormal circulating protein concentration	4556	MT-TE	ORPHA:254864
HP:0010876	Abnormal circulating protein concentration	9325	TRIP4	ORPHA:486815
HP:0010876	Abnormal circulating protein concentration	285489	DOK7	OMIM:254300
HP:0010876	Abnormal circulating protein concentration	270	AMPD1	ORPHA:45
HP:0010876	Abnormal circulating protein concentration	272	AMPD3	ORPHA:45
HP:0010876	Abnormal circulating protein concentration	28976	ACAD9	ORPHA:99901
HP:0010876	Abnormal circulating protein concentration	1356	CP	ORPHA:48818
HP:0010876	Abnormal circulating protein concentration	538	ATP7A	OMIM:309400
HP:0010876	Abnormal circulating protein concentration	538	ATP7A	OMIM:304150
HP:0010876	Abnormal circulating protein concentration	22796	COG2	ORPHA:435934
HP:0010876	Abnormal circulating protein concentration	22796	COG2	OMIM:617395
HP:0010876	Abnormal circulating protein concentration	147007	TMEM199	OMIM:616829
HP:0010876	Abnormal circulating protein concentration	1174	AP1S1	ORPHA:171851
HP:0010876	Abnormal circulating protein concentration	9197	SLC33A1	OMIM:614482
HP:0010876	Abnormal circulating protein concentration	51181	DCXR	ORPHA:2843
HP:0010876	Abnormal circulating protein concentration	79783	SUGCT	ORPHA:35706
HP:0010876	Abnormal circulating protein concentration	10157	AASS	ORPHA:3124
HP:0010876	Abnormal circulating protein concentration	189	AGXT	ORPHA:93598
HP:0010876	Abnormal circulating protein concentration	9051	PSTPIP1	OMIM:604416
HP:0010876	Abnormal circulating protein concentration	3689	ITGB2	OMIM:116920
HP:0010876	Abnormal circulating protein concentration	90268	OTULIN	OMIM:617099
HP:0010876	Abnormal circulating protein concentration	144811	LACC1	ORPHA:85414
HP:0010876	Abnormal circulating protein concentration	4282	MIF	ORPHA:85414
HP:0010876	Abnormal circulating protein concentration	3123	HLA-DRB1	ORPHA:85414
HP:0010876	Abnormal circulating protein concentration	3569	IL6	ORPHA:85414
HP:0010876	Abnormal circulating protein concentration	29775	CARD10	OMIM:619632
HP:0010876	Abnormal circulating protein concentration	3702	ITK	OMIM:613011
HP:0010876	Abnormal circulating protein concentration	114548	NLRP3	OMIM:191900
HP:0010876	Abnormal circulating protein concentration	114548	NLRP3	OMIM:607115
HP:0010876	Abnormal circulating protein concentration	114548	NLRP3	ORPHA:1451
HP:0010876	Abnormal circulating protein concentration	114548	NLRP3	OMIM:120100
HP:0010876	Abnormal circulating protein concentration	27178	IL37	OMIM:619398
HP:0010876	Abnormal circulating protein concentration	5580	PRKCD	OMIM:615559
HP:0010876	Abnormal circulating protein concentration	1493	CTLA4	ORPHA:900
HP:0010876	Abnormal circulating protein concentration	26191	PTPN22	ORPHA:900
HP:0010876	Abnormal circulating protein concentration	26191	PTPN22	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	3115	HLA-DPB1	ORPHA:900
HP:0010876	Abnormal circulating protein concentration	5657	PRTN3	ORPHA:900
HP:0010876	Abnormal circulating protein concentration	3113	HLA-DPA1	ORPHA:900
HP:0010876	Abnormal circulating protein concentration	57169	ZNFX1	OMIM:619644
HP:0010876	Abnormal circulating protein concentration	3162	HMOX1	OMIM:614034
HP:0010876	Abnormal circulating protein concentration	22861	NLRP1	OMIM:617388
HP:0010876	Abnormal circulating protein concentration	1314	COPA	OMIM:616414
HP:0010876	Abnormal circulating protein concentration	51816	ADA2	OMIM:615688
HP:0010876	Abnormal circulating protein concentration	3557	IL1RN	OMIM:612852
HP:0010876	Abnormal circulating protein concentration	91662	NLRP12	OMIM:611762
HP:0010876	Abnormal circulating protein concentration	7132	TNFRSF1A	ORPHA:32960
HP:0010876	Abnormal circulating protein concentration	51371	POMP	OMIM:618048
HP:0010876	Abnormal circulating protein concentration	50619	DEF6	OMIM:619573
HP:0010876	Abnormal circulating protein concentration	340061	STING1	OMIM:615934
HP:0010876	Abnormal circulating protein concentration	26525	IL36RN	OMIM:614204
HP:0010876	Abnormal circulating protein concentration	10095	ARPC1B	OMIM:617718
HP:0010876	Abnormal circulating protein concentration	6583	SLC22A4	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	4261	CIITA	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	51744	CD244	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	4795	NFKBIL1	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	3586	IL10	OMIM:180300
HP:0010876	Abnormal circulating protein concentration	2000	ELF4	OMIM:301074
HP:0010876	Abnormal circulating protein concentration	205327	C2orf69	OMIM:619423
HP:0010876	Abnormal circulating protein concentration	4689	NCF4	OMIM:613960
HP:0010876	Abnormal circulating protein concentration	5696	PSMB8	OMIM:256040
HP:0010876	Abnormal circulating protein concentration	11330	CTRC	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	5644	PRSS1	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	5645	PRSS2	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	6690	SPINK1	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	846	CASR	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	1080	CFTR	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	1357	CPA1	ORPHA:676
HP:0010876	Abnormal circulating protein concentration	7187	TRAF3	ORPHA:1930
HP:0010876	Abnormal circulating protein concentration	81622	UNC93B1	ORPHA:1930
HP:0010876	Abnormal circulating protein concentration	148022	TICAM1	ORPHA:1930
HP:0010876	Abnormal circulating protein concentration	7098	TLR3	ORPHA:1930
HP:0010876	Abnormal circulating protein concentration	29110	TBK1	ORPHA:1930
HP:0010876	Abnormal circulating protein concentration	7018	TF	OMIM:209300
HP:0010876	Abnormal circulating protein concentration	2512	FTL	OMIM:615604
HP:0010876	Abnormal circulating protein concentration	2512	FTL	OMIM:606159
HP:0010876	Abnormal circulating protein concentration	2512	FTL	ORPHA:157846
HP:0010876	Abnormal circulating protein concentration	2671	GFER	ORPHA:330054
HP:0010876	Abnormal circulating protein concentration	55532	SLC30A10	ORPHA:309854
HP:0010876	Abnormal circulating protein concentration	5373	PMM2	ORPHA:79318
HP:0010876	Abnormal circulating protein concentration	10661	KLF1	OMIM:613673
HP:0010876	Abnormal circulating protein concentration	5313	PKLR	OMIM:266200
HP:0010876	Abnormal circulating protein concentration	6513	SLC2A1	OMIM:612126
HP:0010876	Abnormal circulating protein concentration	7390	UROS	ORPHA:79277
HP:0010876	Abnormal circulating protein concentration	2623	GATA1	ORPHA:79277
HP:0010876	Abnormal circulating protein concentration	9493	KIF23	OMIM:105600
HP:0010876	Abnormal circulating protein concentration	6005	RHAG	ORPHA:71275
HP:0010876	Abnormal circulating protein concentration	6006	RHCE	ORPHA:71275
HP:0010876	Abnormal circulating protein concentration	6007	RHD	ORPHA:71275
HP:0010876	Abnormal circulating protein concentration	2694	CBLIF	OMIM:261000
HP:0010876	Abnormal circulating protein concentration	64241	ABCG8	OMIM:210250
HP:0010876	Abnormal circulating protein concentration	5277	PIGA	ORPHA:447
HP:0010876	Abnormal circulating protein concentration	23545	ATP6V0A2	ORPHA:357074
HP:0010876	Abnormal circulating protein concentration	523	ATP6V1A	ORPHA:357074
HP:0010876	Abnormal circulating protein concentration	529	ATP6V1E1	ORPHA:357074
HP:0010876	Abnormal circulating protein concentration	5994	RFXAP	ORPHA:572
HP:0010876	Abnormal circulating protein concentration	5993	RFX5	ORPHA:572
HP:0010876	Abnormal circulating protein concentration	8625	RFXANK	ORPHA:572
HP:0010876	Abnormal circulating protein concentration	5626	PROP1	ORPHA:226307
HP:0010876	Abnormal circulating protein concentration	89884	LHX4	ORPHA:226307
HP:0010876	Abnormal circulating protein concentration	8022	LHX3	ORPHA:226307
HP:0010876	Abnormal circulating protein concentration	5449	POU1F1	ORPHA:226307
HP:0010876	Abnormal circulating protein concentration	8820	HESX1	ORPHA:226307
HP:0010876	Abnormal circulating protein concentration	405753	DUOXA2	ORPHA:95716
HP:0010876	Abnormal circulating protein concentration	6528	SLC5A5	ORPHA:95716
HP:0010876	Abnormal circulating protein concentration	7038	TG	ORPHA:95716
HP:0010876	Abnormal circulating protein concentration	7173	TPO	ORPHA:95716
HP:0010876	Abnormal circulating protein concentration	389434	IYD	ORPHA:95716
HP:0010876	Abnormal circulating protein concentration	7201	TRHR	ORPHA:99832
HP:0010876	Abnormal circulating protein concentration	7252	TSHB	ORPHA:90674
HP:0010876	Abnormal circulating protein concentration	7253	TSHR	OMIM:609152
HP:0010876	Abnormal circulating protein concentration	7253	TSHR	ORPHA:90673
HP:0010876	Abnormal circulating protein concentration	50506	DUOX2	ORPHA:226316
HP:0010876	Abnormal circulating protein concentration	169792	GLIS3	OMIM:610199
HP:0010876	Abnormal circulating protein concentration	7355	SLC35A2	ORPHA:356961
HP:0010876	Abnormal circulating protein concentration	7849	PAX8	OMIM:218700
HP:0010876	Abnormal circulating protein concentration	7068	THRB	OMIM:188570
HP:0010876	Abnormal circulating protein concentration	3766	KCNJ10	OMIM:274600
HP:0010876	Abnormal circulating protein concentration	2299	FOXI1	OMIM:274600
HP:0010876	Abnormal circulating protein concentration	5172	SLC26A4	OMIM:274600
HP:0010876	Abnormal circulating protein concentration	64208	POPDC3	OMIM:618848
HP:0010876	Abnormal circulating protein concentration	4512	MT-CO1	ORPHA:99845
HP:0010876	Abnormal circulating protein concentration	4514	MT-CO3	ORPHA:99845
HP:0010876	Abnormal circulating protein concentration	8462	KLF11	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	26060	APPL1	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	640	BLK	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	1056	CEL	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	4760	NEUROD1	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	5078	PAX4	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	3172	HNF4A	ORPHA:552
HP:0010876	Abnormal circulating protein concentration	3630	INS	OMIM:618858
HP:0010876	Abnormal circulating protein concentration	4665	NAB2	ORPHA:2126
HP:0010876	Abnormal circulating protein concentration	6778	STAT6	ORPHA:2126
HP:0010876	Abnormal circulating protein concentration	3651	PDX1	OMIM:260370
HP:0010876	Abnormal circulating protein concentration	23019	CNOT1	ORPHA:556955
HP:0010876	Abnormal circulating protein concentration	2645	GCK	OMIM:606176
HP:0010876	Abnormal circulating protein concentration	3767	KCNJ11	ORPHA:276580
HP:0010876	Abnormal circulating protein concentration	3767	KCNJ11	ORPHA:79644
HP:0010876	Abnormal circulating protein concentration	63924	CIDEC	OMIM:615238
HP:0010876	Abnormal circulating protein concentration	7351	UCP2	ORPHA:276556
HP:0010876	Abnormal circulating protein concentration	3643	INSR	ORPHA:769
HP:0010876	Abnormal circulating protein concentration	6927	HNF1A	ORPHA:324575
HP:0010876	Abnormal circulating protein concentration	6833	ABCC8	ORPHA:276575
HP:0010876	Abnormal circulating protein concentration	5468	PPARG	ORPHA:528
HP:0010876	Abnormal circulating protein concentration	10555	AGPAT2	ORPHA:528
HP:0010876	Abnormal circulating protein concentration	26580	BSCL2	ORPHA:528
HP:0010876	Abnormal circulating protein concentration	2353	FOS	ORPHA:528
HP:0010876	Abnormal circulating protein concentration	857	CAV1	ORPHA:528
HP:0010876	Abnormal circulating protein concentration	55186	SLC25A36	OMIM:620211
HP:0010876	Abnormal circulating protein concentration	1439	CSF2RB	ORPHA:264675
HP:0010876	Abnormal circulating protein concentration	1438	CSF2RA	ORPHA:264675
HP:0010876	Abnormal circulating protein concentration	2313	FLI1	ORPHA:370348
HP:0010876	Abnormal circulating protein concentration	5950	RBP4	OMIM:615147
HP:0010876	Abnormal circulating protein concentration	3119	HLA-DQB1	ORPHA:930
HP:0010876	Abnormal circulating protein concentration	9244	CRLF1	ORPHA:930
HP:0010876	Abnormal circulating protein concentration	3117	HLA-DQA1	ORPHA:930
HP:0010876	Abnormal circulating protein concentration	4842	NOS1	ORPHA:930
HP:0010876	Abnormal circulating protein concentration	5921	RASA1	ORPHA:90307
HP:0010876	Abnormal circulating protein concentration	6392	SDHD	ORPHA:100093
HP:0010876	Abnormal circulating protein concentration	7276	TTR	ORPHA:85451
HP:0010876	Abnormal circulating protein concentration	4882	NPR2	OMIM:615923
HP:0010876	Abnormal circulating protein concentration	142680	SLC34A3	ORPHA:157215
HP:0010876	Abnormal circulating protein concentration	6569	SLC34A1	ORPHA:157215
HP:0010876	Abnormal circulating protein concentration	4023	LPL	OMIM:144250
HP:0010876	Abnormal circulating protein concentration	335	APOA1	OMIM:619836
HP:0010876	Abnormal circulating protein concentration	19	ABCA1	OMIM:205400
HP:0010876	Abnormal circulating protein concentration	164656	TMPRSS6	OMIM:206200
HP:0010876	Abnormal circulating protein concentration	5265	SERPINA1	OMIM:613490
HP:0010876	Abnormal circulating protein concentration	10568	SLC34A2	ORPHA:60025
HP:0010876	Abnormal circulating protein concentration	10463	SLC30A9	OMIM:617595
HP:0010876	Abnormal circulating protein concentration	2495	FTH1	OMIM:615517
HP:0010876	Abnormal circulating protein concentration	8838	CCN6	ORPHA:1159
HP:0010876	Abnormal circulating protein concentration	3570	IL6R	OMIM:618944
HP:0010876	Abnormal circulating protein concentration	4210	MEFV	OMIM:249100
HP:0010876	Abnormal circulating protein concentration	3572	IL6ST	OMIM:619750
HP:0010876	Abnormal circulating protein concentration	344	APOC2	OMIM:207750
HP:0010876	Abnormal circulating protein concentration	22948	CCT5	OMIM:256840
HP:0010876	Abnormal circulating protein concentration	60676	PAPPA2	OMIM:619489
HP:0010876	Abnormal circulating protein concentration	3818	KLKB1	OMIM:612423
HP:0010876	Abnormal circulating protein concentration	1272	CNTN1	OMIM:612540
HP:0010876	Abnormal circulating protein concentration	51099	ABHD5	ORPHA:98907
HP:0010876	Abnormal circulating protein concentration	2632	GBE1	OMIM:232500
HP:0010876	Abnormal circulating protein concentration	9997	SCO2	ORPHA:521411
HP:0010876	Abnormal circulating protein concentration	10290	SPEG	OMIM:615959
HP:0010876	Abnormal circulating protein concentration	90624	LYRM7	OMIM:615838
HP:0010876	Abnormal circulating protein concentration	57731	SPTBN4	OMIM:617519
HP:0010876	Abnormal circulating protein concentration	9990	SLC12A6	OMIM:620068
HP:0010876	Abnormal circulating protein concentration	124093	CCDC78	OMIM:614807
HP:0010876	Abnormal circulating protein concentration	55958	KLHL9	ORPHA:399081
HP:0010876	Abnormal circulating protein concentration	4632	MYL1	OMIM:618414
HP:0010876	Abnormal circulating protein concentration	9200	HACD1	OMIM:619967
HP:0010876	Abnormal circulating protein concentration	10329	RXYLT1	ORPHA:899
HP:0010876	Abnormal circulating protein concentration	5054	SERPINE1	ORPHA:465
HP:0010876	Abnormal circulating protein concentration	5340	PLG	OMIM:217090
HP:0010876	Abnormal circulating protein concentration	5340	PLG	ORPHA:722
HP:0010876	Abnormal circulating protein concentration	3483	IGFALS	OMIM:615961
HP:0010876	Abnormal circulating protein concentration	5314	PKHD1	ORPHA:53035
HP:0010876	Abnormal circulating protein concentration	174	AFP	OMIM:615969
HP:0010876	Abnormal circulating protein concentration	8573	CASK	OMIM:300908
HP:0010876	Abnormal circulating protein concentration	2539	G6PD	OMIM:300908
HP:0010876	Abnormal circulating protein concentration	8671	SLC4A4	OMIM:604278
HP:0010876	Abnormal circulating protein concentration	134218	DNAJC21	ORPHA:811
HP:0010876	Abnormal circulating protein concentration	79631	EFL1	ORPHA:811
HP:0010876	Abnormal circulating protein concentration	51119	SBDS	ORPHA:811
HP:0010876	Abnormal circulating protein concentration	6729	SRP54	ORPHA:811
HP:0010877	Monocular strabismus	8367	H4C5	OMIM:619950
HP:0007817	Horizontal supranuclear gaze palsy	64221	ROBO3	ORPHA:2744
HP:0007817	Horizontal supranuclear gaze palsy	64221	ROBO3	OMIM:607313
HP:0007817	Horizontal supranuclear gaze palsy	1630	DCC	ORPHA:2744
HP:0007817	Horizontal supranuclear gaze palsy	1630	DCC	OMIM:617542
HP:0007817	Horizontal supranuclear gaze palsy	3198	HOXA1	OMIM:601536
HP:0007817	Horizontal supranuclear gaze palsy	2629	GBA1	OMIM:231000
HP:0007818	Central heterochromia	57167	SALL4	ORPHA:233
HP:0007818	Central heterochromia	9935	MAFB	ORPHA:233
HP:0007818	Central heterochromia	1123	CHN1	ORPHA:233
HP:0007818	Central heterochromia	10908	PNPLA6	OMIM:275400
HP:0007818	Central heterochromia	5728	PTEN	ORPHA:744
HP:0007818	Central heterochromia	207	AKT1	ORPHA:744
HP:0007819	Presenile cataracts	5080	PAX6	OMIM:136520
HP:0007819	Presenile cataracts	4627	MYH9	ORPHA:182050
HP:0007819	Presenile cataracts	4507	MTAP	OMIM:112250
HP:0007824	Total ophthalmoplegia	6792	CDKL5	ORPHA:3095
HP:0007824	Total ophthalmoplegia	22854	NTNG1	ORPHA:3095
HP:0007824	Total ophthalmoplegia	9568	GABBR2	ORPHA:3095
HP:0007824	Total ophthalmoplegia	4204	MECP2	ORPHA:3095
HP:0007824	Total ophthalmoplegia	8243	SMC1A	ORPHA:3095
HP:0007824	Total ophthalmoplegia	5428	POLG	OMIM:157640
HP:0007824	Total ophthalmoplegia	2902	GRIN1	ORPHA:208447
HP:0007824	Total ophthalmoplegia	91147	TMEM67	OMIM:602152
HP:0000660	Lipemia retinalis	344	APOC2	OMIM:207750
HP:0000660	Lipemia retinalis	2538	G6PC1	OMIM:232200
HP:0000660	Lipemia retinalis	338328	GPIHBP1	OMIM:615947
HP:0000660	Lipemia retinalis	4023	LPL	OMIM:238600
HP:0000660	Lipemia retinalis	2542	SLC37A4	OMIM:232220
HP:0000661	Palpebral fissure narrowing on adduction	9935	MAFB	OMIM:617041
HP:0000661	Palpebral fissure narrowing on adduction	57167	SALL4	OMIM:607323
HP:0000666	Horizontal nystagmus	10749	KIF1C	ORPHA:397946
HP:0000666	Horizontal nystagmus	10749	KIF1C	OMIM:611302
HP:0000666	Horizontal nystagmus	55703	POLR3B	OMIM:614381
HP:0000666	Horizontal nystagmus	92935	MARS2	OMIM:611390
HP:0000666	Horizontal nystagmus	92935	MARS2	ORPHA:314603
HP:0000666	Horizontal nystagmus	6834	SURF1	OMIM:616684
HP:0000666	Horizontal nystagmus	5393	EXOSC9	OMIM:618065
HP:0000666	Horizontal nystagmus	60529	ALX4	OMIM:613451
HP:0000666	Horizontal nystagmus	79876	UBA5	OMIM:617133
HP:0000666	Horizontal nystagmus	2895	GRID2	OMIM:616204
HP:0000666	Horizontal nystagmus	2895	GRID2	ORPHA:363432
HP:0000666	Horizontal nystagmus	10059	DNM1L	OMIM:614388
HP:0000666	Horizontal nystagmus	29926	GMPPA	OMIM:615510
HP:0000666	Horizontal nystagmus	1355	COX15	OMIM:615119
HP:0000666	Horizontal nystagmus	4720	NDUFS2	OMIM:618228
HP:0000666	Horizontal nystagmus	347734	SLC35B2	OMIM:620269
HP:0000666	Horizontal nystagmus	11160	ERLIN2	ORPHA:209951
HP:0000666	Horizontal nystagmus	4784	NFIX	ORPHA:447980
HP:0000666	Horizontal nystagmus	9131	AIFM1	ORPHA:83629
HP:0000666	Horizontal nystagmus	6873	TAF2	ORPHA:397951
HP:0000666	Horizontal nystagmus	91942	NDUFAF2	OMIM:618233
HP:0000666	Horizontal nystagmus	79868	ALG13	OMIM:300884
HP:0000666	Horizontal nystagmus	4081	MAB21L1	OMIM:618479
HP:0000666	Horizontal nystagmus	5159	PDGFRB	OMIM:615007
HP:0000666	Horizontal nystagmus	169522	KCNV2	OMIM:610356
HP:0000666	Horizontal nystagmus	4976	OPA1	OMIM:125250
HP:0000666	Horizontal nystagmus	4976	OPA1	OMIM:165500
HP:0000666	Horizontal nystagmus	3417	IDH1	ORPHA:99646
HP:0000666	Horizontal nystagmus	56915	EXOSC5	OMIM:619576
HP:0000666	Horizontal nystagmus	1600	DAB1	ORPHA:363710
HP:0000666	Horizontal nystagmus	55870	ASH1L	OMIM:617796
HP:0000666	Horizontal nystagmus	100131801	PET100	OMIM:619055
HP:0000666	Horizontal nystagmus	3756	KCNH1	OMIM:135500
HP:0000666	Horizontal nystagmus	79797	ZNF408	OMIM:616468
HP:0000666	Horizontal nystagmus	8546	AP3B1	OMIM:608233
HP:0000666	Horizontal nystagmus	7276	TTR	OMIM:105210
HP:0000666	Horizontal nystagmus	90167	FRMD7	OMIM:310700
HP:0000666	Horizontal nystagmus	1130	LYST	ORPHA:167
HP:0000666	Horizontal nystagmus	23096	IQSEC2	ORPHA:397933
HP:0000666	Horizontal nystagmus	23400	ATP13A2	ORPHA:513436
HP:0000666	Horizontal nystagmus	79152	FA2H	ORPHA:329308
HP:0000666	Horizontal nystagmus	23327	NEDD4L	OMIM:617201
HP:0000666	Horizontal nystagmus	54664	TMEM106B	OMIM:617964
HP:0000666	Horizontal nystagmus	2629	GBA1	OMIM:231005
HP:0000666	Horizontal nystagmus	57465	TBC1D24	OMIM:608105
HP:0000666	Horizontal nystagmus	57465	TBC1D24	ORPHA:163727
HP:0000666	Horizontal nystagmus	5660	PSAP	OMIM:610539
HP:0000666	Horizontal nystagmus	4929	NR4A2	ORPHA:98808
HP:0000666	Horizontal nystagmus	3615	IMPDH2	ORPHA:98808
HP:0000666	Horizontal nystagmus	55699	IARS2	OMIM:616007
HP:0000666	Horizontal nystagmus	3035	HARS1	OMIM:614504
HP:0000666	Horizontal nystagmus	79753	SNIP1	OMIM:614501
HP:0000666	Horizontal nystagmus	146057	TTBK2	ORPHA:98767
HP:0000666	Horizontal nystagmus	80781	COL18A1	OMIM:267750
HP:0000666	Horizontal nystagmus	2916	GRM6	OMIM:257270
HP:0000666	Horizontal nystagmus	89781	HPS4	OMIM:614073
HP:0000666	Horizontal nystagmus	11234	HPS5	OMIM:614074
HP:0000666	Horizontal nystagmus	6182	MRPL12	OMIM:618951
HP:0000666	Horizontal nystagmus	84343	HPS3	OMIM:614072
HP:0000666	Horizontal nystagmus	122553	TRAPPC6B	OMIM:617862
HP:0000666	Horizontal nystagmus	388552	BLOC1S3	OMIM:614077
HP:0000666	Horizontal nystagmus	9474	ATG5	OMIM:617584
HP:0000666	Horizontal nystagmus	2625	GATA3	OMIM:146255
HP:0000666	Horizontal nystagmus	9409	PEX16	OMIM:614877
HP:0000666	Horizontal nystagmus	5354	PLP1	ORPHA:280229
HP:0000666	Horizontal nystagmus	9215	LARGE1	OMIM:608840
HP:0000666	Horizontal nystagmus	1200	TPP1	ORPHA:284324
HP:0000666	Horizontal nystagmus	55129	ANO10	ORPHA:284289
HP:0000666	Horizontal nystagmus	54888	NSUN2	OMIM:611091
HP:0000666	Horizontal nystagmus	4935	GPR143	OMIM:300814
HP:0000666	Horizontal nystagmus	3798	KIF5A	OMIM:617235
HP:0000666	Horizontal nystagmus	6572	SLC18A3	OMIM:617239
HP:0000666	Horizontal nystagmus	1804	DPP6	ORPHA:2514
HP:0000666	Horizontal nystagmus	4001	LMNB1	ORPHA:2514
HP:0000666	Horizontal nystagmus	10273	STUB1	ORPHA:412057
HP:0000666	Horizontal nystagmus	9487	PIGL	OMIM:280000
HP:0000666	Horizontal nystagmus	7515	XRCC1	OMIM:617633
HP:0000666	Horizontal nystagmus	64802	NMNAT1	OMIM:608553
HP:0000666	Horizontal nystagmus	4990	SIX6	OMIM:212550
HP:0000666	Horizontal nystagmus	57731	SPTBN4	OMIM:617519
HP:0000666	Horizontal nystagmus	3166	HMX1	OMIM:612109
HP:0000666	Horizontal nystagmus	84233	TMEM126A	OMIM:612989
HP:0000666	Horizontal nystagmus	84188	FAR1	ORPHA:447753
HP:0000666	Horizontal nystagmus	5832	ALDH18A1	ORPHA:447753
HP:0000666	Horizontal nystagmus	84274	COQ5	OMIM:619028
HP:0000666	Horizontal nystagmus	55280	CWF19L1	ORPHA:453521
HP:0000666	Horizontal nystagmus	5830	PEX5	OMIM:616716
HP:0000666	Horizontal nystagmus	6712	SPTBN2	OMIM:600224
HP:0000666	Horizontal nystagmus	4361	MRE11	OMIM:604391
HP:0000666	Horizontal nystagmus	221927	BRAT1	OMIM:618056
HP:0000666	Horizontal nystagmus	9181	ARHGEF2	OMIM:617523
HP:0000666	Horizontal nystagmus	4041	LRP5	OMIM:601813
HP:0000666	Horizontal nystagmus	54714	CNGB3	OMIM:262300
HP:0000666	Horizontal nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0000666	Horizontal nystagmus	23636	NUP62	ORPHA:225154
HP:0000666	Horizontal nystagmus	103	ADAR	ORPHA:225154
HP:0000666	Horizontal nystagmus	2898	GRIK2	OMIM:619580
HP:0000666	Horizontal nystagmus	3708	ITPR1	OMIM:606658
HP:0000666	Horizontal nystagmus	5934	RBL2	OMIM:619690
HP:0000666	Horizontal nystagmus	773	CACNA1A	OMIM:183086
HP:0000666	Horizontal nystagmus	773	CACNA1A	ORPHA:98758
HP:0000666	Horizontal nystagmus	773	CACNA1A	ORPHA:569
HP:0000666	Horizontal nystagmus	2643	GCH1	OMIM:128230
HP:0000666	Horizontal nystagmus	26278	SACS	ORPHA:98
HP:0000666	Horizontal nystagmus	6658	SOX3	ORPHA:67045
HP:0000666	Horizontal nystagmus	146227	BEAN1	OMIM:117210
HP:0000666	Horizontal nystagmus	255928	SYT14	ORPHA:284271
HP:0000666	Horizontal nystagmus	255928	SYT14	OMIM:614229
HP:0000666	Horizontal nystagmus	8913	CACNA1G	ORPHA:458803
HP:0000666	Horizontal nystagmus	131669	UROC1	ORPHA:210128
HP:0000666	Horizontal nystagmus	5081	PAX7	OMIM:618578
HP:0000666	Horizontal nystagmus	54974	THG1L	OMIM:618800
HP:0000666	Horizontal nystagmus	2911	GRM1	OMIM:614831
HP:0000666	Horizontal nystagmus	2911	GRM1	ORPHA:324262
HP:0000666	Horizontal nystagmus	3752	KCND3	OMIM:607346
HP:0000666	Horizontal nystagmus	112476	PRRT2	ORPHA:569
HP:0000666	Horizontal nystagmus	6323	SCN1A	ORPHA:569
HP:0000666	Horizontal nystagmus	477	ATP1A2	ORPHA:569
HP:0000666	Horizontal nystagmus	2259	FGF14	OMIM:620174
HP:0000667	Phthisis bulbi	80781	COL18A1	OMIM:267750
HP:0000667	Phthisis bulbi	23476	BRD4	ORPHA:199
HP:0000667	Phthisis bulbi	9126	SMC3	ORPHA:199
HP:0000667	Phthisis bulbi	8243	SMC1A	ORPHA:199
HP:0000667	Phthisis bulbi	25836	NIPBL	ORPHA:199
HP:0000667	Phthisis bulbi	55869	HDAC8	ORPHA:199
HP:0000667	Phthisis bulbi	5885	RAD21	ORPHA:199
HP:0000667	Phthisis bulbi	79639	TMEM53	OMIM:619727
HP:0000667	Phthisis bulbi	4140	MARK3	OMIM:618283
HP:0000667	Phthisis bulbi	220202	ATOH7	OMIM:221900
HP:0000667	Phthisis bulbi	220202	ATOH7	ORPHA:91495
HP:0000667	Phthisis bulbi	54880	BCOR	OMIM:300166
HP:0000667	Phthisis bulbi	4041	LRP5	OMIM:259770
HP:0000667	Phthisis bulbi	4693	NDP	ORPHA:91495
HP:0000667	Phthisis bulbi	8322	FZD4	ORPHA:91495
HP:0000667	Phthisis bulbi	3166	HMX1	OMIM:612109
HP:0000667	Phthisis bulbi	1009	CDH11	OMIM:211380
HP:0000668	Hypodontia	10749	KIF1C	ORPHA:397946
HP:0000668	Hypodontia	4487	MSX1	ORPHA:141291
HP:0000668	Hypodontia	4487	MSX1	OMIM:106600
HP:0000668	Hypodontia	4487	MSX1	ORPHA:199302
HP:0000668	Hypodontia	4487	MSX1	ORPHA:2228
HP:0000668	Hypodontia	5818	NECTIN1	ORPHA:141291
HP:0000668	Hypodontia	5818	NECTIN1	ORPHA:199302
HP:0000668	Hypodontia	5818	NECTIN1	ORPHA:3253
HP:0000668	Hypodontia	5818	NECTIN1	OMIM:225060
HP:0000668	Hypodontia	8626	TP63	ORPHA:141291
HP:0000668	Hypodontia	8626	TP63	ORPHA:199302
HP:0000668	Hypodontia	8626	TP63	OMIM:103285
HP:0000668	Hypodontia	8626	TP63	OMIM:106260
HP:0000668	Hypodontia	8626	TP63	OMIM:129400
HP:0000668	Hypodontia	8626	TP63	OMIM:603543
HP:0000668	Hypodontia	8626	TP63	ORPHA:69085
HP:0000668	Hypodontia	3664	IRF6	ORPHA:141291
HP:0000668	Hypodontia	3664	IRF6	ORPHA:199302
HP:0000668	Hypodontia	3664	IRF6	OMIM:119300
HP:0000668	Hypodontia	3664	IRF6	ORPHA:888
HP:0000668	Hypodontia	2245	FGD1	OMIM:305400
HP:0000668	Hypodontia	54084	TSPEAR	OMIM:618180
HP:0000668	Hypodontia	55703	POLR3B	OMIM:614381
HP:0000668	Hypodontia	55703	POLR3B	ORPHA:88637
HP:0000668	Hypodontia	55703	POLR3B	OMIM:607694
HP:0000668	Hypodontia	22856	CHSY1	ORPHA:363417
HP:0000668	Hypodontia	8517	IKBKG	OMIM:300636
HP:0000668	Hypodontia	8517	IKBKG	ORPHA:464
HP:0000668	Hypodontia	8517	IKBKG	OMIM:308300
HP:0000668	Hypodontia	54517	PUS7	OMIM:618342
HP:0000668	Hypodontia	51728	POLR3K	OMIM:619310
HP:0000668	Hypodontia	128178	EDARADD	OMIM:614940
HP:0000668	Hypodontia	128178	EDARADD	OMIM:614941
HP:0000668	Hypodontia	128178	EDARADD	OMIM:129490
HP:0000668	Hypodontia	128178	EDARADD	OMIM:224900
HP:0000668	Hypodontia	128178	EDARADD	ORPHA:1810
HP:0000668	Hypodontia	2263	FGFR2	OMIM:149730
HP:0000668	Hypodontia	2263	FGFR2	ORPHA:2363
HP:0000668	Hypodontia	51	ACOX1	ORPHA:2971
HP:0000668	Hypodontia	64324	NSD1	ORPHA:821
HP:0000668	Hypodontia	29072	SETD2	ORPHA:821
HP:0000668	Hypodontia	10297	APC2	ORPHA:821
HP:0000668	Hypodontia	55593	OTUD5	OMIM:301056
HP:0000668	Hypodontia	5308	PITX2	ORPHA:782
HP:0000668	Hypodontia	5308	PITX2	OMIM:180500
HP:0000668	Hypodontia	2296	FOXC1	ORPHA:782
HP:0000668	Hypodontia	2296	FOXC1	OMIM:602482
HP:0000668	Hypodontia	221496	LEMD2	OMIM:619322
HP:0000668	Hypodontia	1387	CREBBP	ORPHA:353281
HP:0000668	Hypodontia	1387	CREBBP	ORPHA:353277
HP:0000668	Hypodontia	387119	CEP85L	OMIM:618873
HP:0000668	Hypodontia	9533	POLR1C	ORPHA:88637
HP:0000668	Hypodontia	11128	POLR3A	ORPHA:88637
HP:0000668	Hypodontia	11128	POLR3A	OMIM:264090
HP:0000668	Hypodontia	11128	POLR3A	ORPHA:447896
HP:0000668	Hypodontia	11128	POLR3A	ORPHA:3455
HP:0000668	Hypodontia	11128	POLR3A	OMIM:607694
HP:0000668	Hypodontia	3313	HSPA9	OMIM:616854
HP:0000668	Hypodontia	4792	NFKBIA	OMIM:612132
HP:0000668	Hypodontia	83479	DDX59	OMIM:174300
HP:0000668	Hypodontia	83479	DDX59	ORPHA:2919
HP:0000668	Hypodontia	8085	KMT2D	ORPHA:2322
HP:0000668	Hypodontia	7403	KDM6A	ORPHA:2322
HP:0000668	Hypodontia	7403	KDM6A	OMIM:300867
HP:0000668	Hypodontia	2033	EP300	ORPHA:353284
HP:0000668	Hypodontia	999	CDH1	OMIM:119580
HP:0000668	Hypodontia	51360	MBTPS2	ORPHA:659
HP:0000668	Hypodontia	162514	TRPV3	ORPHA:659
HP:0000668	Hypodontia	64065	PERP	ORPHA:659
HP:0000668	Hypodontia	9076	CLDN1	ORPHA:59303
HP:0000668	Hypodontia	9076	CLDN1	OMIM:607626
HP:0000668	Hypodontia	57539	WDR35	ORPHA:1515
HP:0000668	Hypodontia	112752	IFT43	ORPHA:1515
HP:0000668	Hypodontia	51098	IFT52	ORPHA:1515
HP:0000668	Hypodontia	55764	IFT122	ORPHA:1515
HP:0000668	Hypodontia	55764	IFT122	OMIM:218330
HP:0000668	Hypodontia	57728	WDR19	ORPHA:1515
HP:0000668	Hypodontia	4038	LRP4	ORPHA:3258
HP:0000668	Hypodontia	4038	LRP4	OMIM:212780
HP:0000668	Hypodontia	324	APC	ORPHA:3258
HP:0000668	Hypodontia	6926	TBX3	ORPHA:3138
HP:0000668	Hypodontia	6926	TBX3	OMIM:181450
HP:0000668	Hypodontia	4297	KMT2A	OMIM:605130
HP:0000668	Hypodontia	6197	RPS6KA3	OMIM:303600
HP:0000668	Hypodontia	6197	RPS6KA3	ORPHA:192
HP:0000668	Hypodontia	1896	EDA	OMIM:305100
HP:0000668	Hypodontia	1896	EDA	OMIM:313500
HP:0000668	Hypodontia	10940	POP1	OMIM:617396
HP:0000668	Hypodontia	1513	CTSK	OMIM:265800
HP:0000668	Hypodontia	1513	CTSK	ORPHA:763
HP:0000668	Hypodontia	10265	IRX5	OMIM:611174
HP:0000668	Hypodontia	8200	GDF5	ORPHA:63442
HP:0000668	Hypodontia	64131	XYLT1	OMIM:615777
HP:0000668	Hypodontia	84100	ARL6	OMIM:209900
HP:0000668	Hypodontia	79140	CCDC28B	OMIM:209900
HP:0000668	Hypodontia	582	BBS1	OMIM:209900
HP:0000668	Hypodontia	64359	NXN	ORPHA:1507
HP:0000668	Hypodontia	4920	ROR2	ORPHA:1507
HP:0000668	Hypodontia	7080	NKX2-1	ORPHA:209905
HP:0000668	Hypodontia	80326	WNT10A	OMIM:257980
HP:0000668	Hypodontia	80326	WNT10A	ORPHA:50944
HP:0000668	Hypodontia	80326	WNT10A	OMIM:224750
HP:0000668	Hypodontia	2248	FGF3	ORPHA:90024
HP:0000668	Hypodontia	222663	SCUBE3	OMIM:619184
HP:0000668	Hypodontia	5566	PRKACA	ORPHA:289
HP:0000668	Hypodontia	5567	PRKACB	ORPHA:289
HP:0000668	Hypodontia	5567	PRKACB	OMIM:619143
HP:0000668	Hypodontia	2735	GLI1	ORPHA:289
HP:0000668	Hypodontia	2121	EVC	ORPHA:289
HP:0000668	Hypodontia	2121	EVC	ORPHA:952
HP:0000668	Hypodontia	2121	EVC	OMIM:225500
HP:0000668	Hypodontia	51626	DYNC2LI1	ORPHA:289
HP:0000668	Hypodontia	51626	DYNC2LI1	OMIM:617088
HP:0000668	Hypodontia	132884	EVC2	ORPHA:289
HP:0000668	Hypodontia	132884	EVC2	ORPHA:952
HP:0000668	Hypodontia	132884	EVC2	OMIM:225500
HP:0000668	Hypodontia	64919	BCL11B	OMIM:618092
HP:0000668	Hypodontia	8091	HMGA2	ORPHA:94063
HP:0000668	Hypodontia	23592	LEMD3	ORPHA:94063
HP:0000668	Hypodontia	10815	CPLX1	ORPHA:280
HP:0000668	Hypodontia	10815	CPLX1	OMIM:194190
HP:0000668	Hypodontia	54872	PIGG	ORPHA:280
HP:0000668	Hypodontia	7469	NELFA	ORPHA:280
HP:0000668	Hypodontia	1487	CTBP1	ORPHA:280
HP:0000668	Hypodontia	1487	CTBP1	OMIM:194190
HP:0000668	Hypodontia	3954	LETM1	ORPHA:280
HP:0000668	Hypodontia	3954	LETM1	OMIM:194190
HP:0000668	Hypodontia	7468	NSD2	ORPHA:280
HP:0000668	Hypodontia	7468	NSD2	OMIM:194190
HP:0000668	Hypodontia	9509	ADAMTS2	OMIM:225410
HP:0000668	Hypodontia	4591	TRIM37	OMIM:253250
HP:0000668	Hypodontia	55012	PPP2R3C	OMIM:618419
HP:0000668	Hypodontia	6023	RMRP	OMIM:607095
HP:0000668	Hypodontia	5573	PRKAR1A	OMIM:101800
HP:0000668	Hypodontia	3737	KCNA2	ORPHA:442835
HP:0000668	Hypodontia	1759	DNM1	ORPHA:442835
HP:0000668	Hypodontia	8120	AP3B2	ORPHA:442835
HP:0000668	Hypodontia	523	ATP6V1A	ORPHA:442835
HP:0000668	Hypodontia	10991	SLC38A3	ORPHA:442835
HP:0000668	Hypodontia	51343	FZR1	ORPHA:442835
HP:0000668	Hypodontia	22906	TRAK1	ORPHA:442835
HP:0000668	Hypodontia	2566	GABRG2	ORPHA:442835
HP:0000668	Hypodontia	1917	EEF1A2	ORPHA:442835
HP:0000668	Hypodontia	2561	GABRB2	ORPHA:442835
HP:0000668	Hypodontia	8831	SYNGAP1	ORPHA:442835
HP:0000668	Hypodontia	7532	YWHAG	ORPHA:442835
HP:0000668	Hypodontia	79876	UBA5	ORPHA:442835
HP:0000668	Hypodontia	6328	SCN3A	ORPHA:442835
HP:0000668	Hypodontia	2558	GABRA5	ORPHA:442835
HP:0000668	Hypodontia	781	CACNA2D1	ORPHA:442835
HP:0000668	Hypodontia	2906	GRIN2D	ORPHA:442835
HP:0000668	Hypodontia	116150	NUS1	ORPHA:442835
HP:0000668	Hypodontia	10659	CELF2	ORPHA:442835
HP:0000668	Hypodontia	774	CACNA1B	ORPHA:442835
HP:0000668	Hypodontia	1213	CLTC	ORPHA:442835
HP:0000668	Hypodontia	51741	WWOX	ORPHA:442835
HP:0000668	Hypodontia	23334	SZT2	ORPHA:442835
HP:0000668	Hypodontia	51412	ACTL6B	ORPHA:442835
HP:0000668	Hypodontia	348980	HCN1	ORPHA:442835
HP:0000668	Hypodontia	6506	SLC1A2	ORPHA:442835
HP:0000668	Hypodontia	8867	SYNJ1	ORPHA:442835
HP:0000668	Hypodontia	2258	FGF13	ORPHA:442835
HP:0000668	Hypodontia	477	ATP1A2	ORPHA:442835
HP:0000668	Hypodontia	3745	KCNB1	ORPHA:442835
HP:0000668	Hypodontia	284111	SLC13A5	ORPHA:442835
HP:0000668	Hypodontia	284111	SLC13A5	OMIM:615905
HP:0000668	Hypodontia	25977	NECAP1	ORPHA:442835
HP:0000668	Hypodontia	16	AARS1	ORPHA:442835
HP:0000668	Hypodontia	6334	SCN8A	ORPHA:442835
HP:0000668	Hypodontia	22866	CNKSR2	ORPHA:442835
HP:0000668	Hypodontia	9568	GABBR2	ORPHA:442835
HP:0000668	Hypodontia	2555	GABRA2	ORPHA:442835
HP:0000668	Hypodontia	55152	DALRD3	ORPHA:442835
HP:0000668	Hypodontia	773	CACNA1A	ORPHA:442835
HP:0000668	Hypodontia	26999	CYFIP2	ORPHA:442835
HP:0000668	Hypodontia	4915	NTRK2	ORPHA:442835
HP:0000668	Hypodontia	25973	PARS2	ORPHA:442835
HP:0000668	Hypodontia	23097	CDK19	ORPHA:442835
HP:0000668	Hypodontia	64801	ARV1	ORPHA:442835
HP:0000668	Hypodontia	79947	DHDDS	ORPHA:442835
HP:0000668	Hypodontia	2257	FGF12	ORPHA:442835
HP:0000668	Hypodontia	5530	PPP3CA	ORPHA:442835
HP:0000668	Hypodontia	478	ATP1A3	ORPHA:442835
HP:0000668	Hypodontia	526	ATP6V1B2	ORPHA:3473
HP:0000668	Hypodontia	3756	KCNH1	ORPHA:3473
HP:0000668	Hypodontia	3782	KCNN3	ORPHA:3473
HP:0000668	Hypodontia	53834	FGFRL1	OMIM:194190
HP:0000668	Hypodontia	9487	PIGL	ORPHA:3474
HP:0000668	Hypodontia	57822	GRHL3	OMIM:606713
HP:0000668	Hypodontia	57822	GRHL3	ORPHA:888
HP:0000668	Hypodontia	64840	PORCN	OMIM:305600
HP:0000668	Hypodontia	55131	RBM28	ORPHA:157954
HP:0000668	Hypodontia	55131	RBM28	OMIM:612079
HP:0000668	Hypodontia	134218	DNAJC21	OMIM:617052
HP:0000668	Hypodontia	3914	LAMB3	OMIM:226650
HP:0000668	Hypodontia	1857	DVL3	ORPHA:3107
HP:0000668	Hypodontia	7474	WNT5A	ORPHA:3107
HP:0000668	Hypodontia	1855	DVL1	ORPHA:3107
HP:0000668	Hypodontia	2535	FZD2	ORPHA:3107
HP:0000668	Hypodontia	117581	TWIST2	OMIM:209885
HP:0000668	Hypodontia	6804	STX1A	ORPHA:904
HP:0000668	Hypodontia	7461	CLIP2	ORPHA:904
HP:0000668	Hypodontia	84277	DNAJC30	ORPHA:904
HP:0000668	Hypodontia	8468	FKBP6	ORPHA:904
HP:0000668	Hypodontia	5982	RFC2	ORPHA:904
HP:0000668	Hypodontia	2969	GTF2I	ORPHA:904
HP:0000668	Hypodontia	3984	LIMK1	ORPHA:904
HP:0000668	Hypodontia	9569	GTF2IRD1	ORPHA:904
HP:0000668	Hypodontia	155382	VPS37D	ORPHA:904
HP:0000668	Hypodontia	155368	METTL27	ORPHA:904
HP:0000668	Hypodontia	114049	BUD23	ORPHA:904
HP:0000668	Hypodontia	7458	EIF4H	ORPHA:904
HP:0000668	Hypodontia	84163	GTF2IRD2	ORPHA:904
HP:0000668	Hypodontia	9275	BCL7B	ORPHA:904
HP:0000668	Hypodontia	26608	TBL2	ORPHA:904
HP:0000668	Hypodontia	653361	NCF1	ORPHA:904
HP:0000668	Hypodontia	135886	TMEM270	ORPHA:904
HP:0000668	Hypodontia	51085	MLXIPL	ORPHA:904
HP:0000668	Hypodontia	51085	MLXIPL	OMIM:194050
HP:0000668	Hypodontia	9031	BAZ1B	ORPHA:904
HP:0000668	Hypodontia	2006	ELN	ORPHA:904
HP:0000668	Hypodontia	2006	ELN	OMIM:194050
HP:0000668	Hypodontia	79005	SCNM1	OMIM:620107
HP:0000668	Hypodontia	150468	CKAP2L	OMIM:272440
HP:0000668	Hypodontia	10913	EDAR	OMIM:129490
HP:0000668	Hypodontia	10913	EDAR	OMIM:224900
HP:0000668	Hypodontia	10913	EDAR	ORPHA:1810
HP:0000668	Hypodontia	4000	LMNA	ORPHA:740
HP:0000668	Hypodontia	10269	ZMPSTE24	ORPHA:740
HP:0000668	Hypodontia	2261	FGFR3	OMIM:620192
HP:0000668	Hypodontia	2261	FGFR3	ORPHA:2363
HP:0000668	Hypodontia	10651	MTX2	OMIM:619127
HP:0000668	Hypodontia	50485	SMARCAL1	ORPHA:1830
HP:0000668	Hypodontia	2255	FGF10	ORPHA:2363
HP:0000668	Hypodontia	22995	CEP152	OMIM:613823
HP:0000668	Hypodontia	5295	PIK3R1	OMIM:269880
HP:0000668	Hypodontia	23162	MAPK8IP3	OMIM:618443
HP:0000668	Hypodontia	79977	GRHL2	OMIM:616029
HP:0000668	Hypodontia	8481	OFD1	ORPHA:2750
HP:0000668	Hypodontia	2317	FLNB	OMIM:150250
HP:0000668	Hypodontia	55181	SMG8	OMIM:619268
HP:0000668	Hypodontia	91252	SLC39A13	OMIM:612350
HP:0000668	Hypodontia	80169	CTC1	ORPHA:1775
HP:0000668	Hypodontia	26277	TINF2	ORPHA:1775
HP:0000668	Hypodontia	55651	NHP2	ORPHA:1775
HP:0000668	Hypodontia	79650	USB1	ORPHA:1775
HP:0000668	Hypodontia	55135	WRAP53	ORPHA:1775
HP:0000668	Hypodontia	51750	RTEL1	ORPHA:1775
HP:0000668	Hypodontia	4869	NPM1	ORPHA:1775
HP:0000668	Hypodontia	7012	TERC	ORPHA:1775
HP:0000668	Hypodontia	55505	NOP10	ORPHA:1775
HP:0000668	Hypodontia	5073	PARN	ORPHA:1775
HP:0000668	Hypodontia	7015	TERT	ORPHA:1775
HP:0000668	Hypodontia	1736	DKC1	ORPHA:1775
HP:0000668	Hypodontia	7298	TYMS	ORPHA:1775
HP:0000668	Hypodontia	4281	MID1	ORPHA:2745
HP:0000668	Hypodontia	157657	CFAP418	OMIM:617406
HP:0000668	Hypodontia	11342	RNF13	ORPHA:544503
HP:0000668	Hypodontia	5745	PTH1R	OMIM:125350
HP:0000668	Hypodontia	7189	TRAF6	ORPHA:1810
HP:0000668	Hypodontia	126695	KDF1	ORPHA:1810
HP:0010881	Abnormality of the umbilical cord	2294	FOXF1	OMIM:265380
HP:0010881	Abnormality of the umbilical cord	2294	FOXF1	ORPHA:210122
HP:0010881	Abnormality of the umbilical cord	7490	WT1	OMIM:608978
HP:0010881	Abnormality of the umbilical cord	5447	POR	OMIM:201750
HP:0010881	Abnormality of the umbilical cord	5977	DPF2	OMIM:618027
HP:0010881	Abnormality of the umbilical cord	2187	FANCB	OMIM:300514
HP:0010881	Abnormality of the umbilical cord	2187	FANCB	ORPHA:3412
HP:0010881	Abnormality of the umbilical cord	2627	GATA6	ORPHA:2255
HP:0010881	Abnormality of the umbilical cord	2627	GATA6	OMIM:600001
HP:0010881	Abnormality of the umbilical cord	374879	ZNF699	OMIM:619488
HP:0010881	Abnormality of the umbilical cord	91179	SCARF2	OMIM:600920
HP:0010881	Abnormality of the umbilical cord	117581	TWIST2	OMIM:200110
HP:0010881	Abnormality of the umbilical cord	54870	QRICH1	OMIM:617982
HP:0010881	Abnormality of the umbilical cord	202018	TAPT1	OMIM:616897
HP:0010881	Abnormality of the umbilical cord	4893	NRAS	OMIM:613224
HP:0010881	Abnormality of the umbilical cord	55784	MCTP2	ORPHA:1596
HP:0010881	Abnormality of the umbilical cord	55690	PACS1	OMIM:615009
HP:0010881	Abnormality of the umbilical cord	55690	PACS1	ORPHA:329224
HP:0010881	Abnormality of the umbilical cord	4625	MYH7	OMIM:613426
HP:0010881	Abnormality of the umbilical cord	2188	FANCF	OMIM:603467
HP:0010881	Abnormality of the umbilical cord	9897	WASHC5	OMIM:220210
HP:0010881	Abnormality of the umbilical cord	9897	WASHC5	ORPHA:7
HP:0010881	Abnormality of the umbilical cord	775	CACNA1C	OMIM:601005
HP:0010881	Abnormality of the umbilical cord	84992	PIGY	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	84720	PIGO	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	93210	PGAP3	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	284098	PIGW	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	27315	PGAP2	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	55650	PIGV	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	9487	PIGL	ORPHA:247262
HP:0010881	Abnormality of the umbilical cord	3190	HNRNPK	OMIM:616580
HP:0010881	Abnormality of the umbilical cord	3339	HSPG2	OMIM:224410
HP:0010881	Abnormality of the umbilical cord	3339	HSPG2	ORPHA:1865
HP:0010881	Abnormality of the umbilical cord	84231	TRAF7	OMIM:618164
HP:0010881	Abnormality of the umbilical cord	10463	SLC30A9	OMIM:617595
HP:0010881	Abnormality of the umbilical cord	10274	STAG1	OMIM:617635
HP:0010881	Abnormality of the umbilical cord	55901	THSD1	OMIM:620244
HP:0010881	Abnormality of the umbilical cord	7473	WNT3	OMIM:273395
HP:0010881	Abnormality of the umbilical cord	3239	HOXD13	ORPHA:887
HP:0010881	Abnormality of the umbilical cord	28952	CCDC22	ORPHA:7
HP:0010881	Abnormality of the umbilical cord	11011	TLK2	OMIM:618050
HP:0010881	Abnormality of the umbilical cord	1656	DDX6	OMIM:618653
HP:0010881	Abnormality of the umbilical cord	54903	MKS1	OMIM:249000
HP:0010881	Abnormality of the umbilical cord	23384	SPECC1L	OMIM:145420
HP:0010881	Abnormality of the umbilical cord	2783	GNB2	OMIM:619503
HP:0010881	Abnormality of the umbilical cord	5062	PAK2	OMIM:618458
HP:0010881	Abnormality of the umbilical cord	79633	FAT4	OMIM:615546
HP:0010881	Abnormality of the umbilical cord	4000	LMNA	ORPHA:1662
HP:0010881	Abnormality of the umbilical cord	10269	ZMPSTE24	ORPHA:1662
HP:0010881	Abnormality of the umbilical cord	10269	ZMPSTE24	OMIM:275210
HP:0010881	Abnormality of the umbilical cord	57211	ADGRG6	OMIM:616503
HP:0010881	Abnormality of the umbilical cord	10588	MTHFS	OMIM:618367
HP:0010881	Abnormality of the umbilical cord	4593	MUSK	OMIM:208150
HP:0010881	Abnormality of the umbilical cord	26227	PHGDH	OMIM:256520
HP:0010881	Abnormality of the umbilical cord	2155	F7	ORPHA:327
HP:0010881	Abnormality of the umbilical cord	2165	F13B	ORPHA:331
HP:0010881	Abnormality of the umbilical cord	2162	F13A1	ORPHA:331
HP:0010881	Abnormality of the umbilical cord	5054	SERPINE1	ORPHA:465
HP:0010881	Abnormality of the umbilical cord	3689	ITGB2	OMIM:116920
HP:0010881	Abnormality of the umbilical cord	5880	RAC2	OMIM:608203
HP:0010881	Abnormality of the umbilical cord	3572	IL6ST	OMIM:619752
HP:0010881	Abnormality of the umbilical cord	4615	MYD88	OMIM:612260
HP:0010881	Abnormality of the umbilical cord	6603	SMARCD2	OMIM:617475
HP:0010881	Abnormality of the umbilical cord	10616	RBCK1	OMIM:615895
HP:0010881	Abnormality of the umbilical cord	92579	G6PC3	OMIM:612541
HP:0010881	Abnormality of the umbilical cord	2215	FCGR3B	ORPHA:464370
HP:0010881	Abnormality of the umbilical cord	81570	CLPB	OMIM:619835
HP:0010882	Pulmonary valve atresia	5422	POLA1	OMIM:301030
HP:0010882	Pulmonary valve atresia	2294	FOXF1	OMIM:265380
HP:0010882	Pulmonary valve atresia	2294	FOXF1	ORPHA:210122
HP:0010882	Pulmonary valve atresia	9487	PIGL	ORPHA:3474
HP:0010883	Aortic valve atresia	10128	LRPPRC	OMIM:220111
HP:0010883	Aortic valve atresia	1482	NKX2-5	OMIM:614435
HP:0010883	Aortic valve atresia	23007	PLCH1	OMIM:619895
HP:0010884	Acromelia	1513	CTSK	ORPHA:763
HP:0010885	Avascular necrosis	538	ATP7A	ORPHA:198
HP:0010885	Avascular necrosis	55898	UNC45A	OMIM:619377
HP:0010885	Avascular necrosis	26277	TINF2	OMIM:613990
HP:0010885	Avascular necrosis	91754	NEK9	OMIM:614262
HP:0010885	Avascular necrosis	9652	SKIC3	OMIM:222470
HP:0010885	Avascular necrosis	1857	DVL3	ORPHA:3107
HP:0010885	Avascular necrosis	7474	WNT5A	ORPHA:3107
HP:0010885	Avascular necrosis	1855	DVL1	ORPHA:3107
HP:0010885	Avascular necrosis	2535	FZD2	ORPHA:3107
HP:0010885	Avascular necrosis	1387	CREBBP	ORPHA:353277
HP:0010885	Avascular necrosis	1387	CREBBP	ORPHA:353281
HP:0010885	Avascular necrosis	2335	FN1	ORPHA:93315
HP:0010885	Avascular necrosis	1280	COL2A1	ORPHA:93315
HP:0010885	Avascular necrosis	1280	COL2A1	OMIM:608805
HP:0010885	Avascular necrosis	1280	COL2A1	OMIM:150600
HP:0010885	Avascular necrosis	81031	SLC2A10	ORPHA:3342
HP:0010885	Avascular necrosis	9719	ADAMTSL2	ORPHA:1901
HP:0010885	Avascular necrosis	9509	ADAMTS2	ORPHA:1901
HP:0010885	Avascular necrosis	4796	TONSL	ORPHA:93357
HP:0010885	Avascular necrosis	4148	MATN3	ORPHA:93311
HP:0010885	Avascular necrosis	2131	EXT1	ORPHA:502
HP:0010885	Avascular necrosis	7227	TRPS1	ORPHA:502
HP:0010885	Avascular necrosis	7227	TRPS1	OMIM:190350
HP:0010885	Avascular necrosis	7227	TRPS1	OMIM:190351
HP:0010885	Avascular necrosis	7227	TRPS1	ORPHA:77258
HP:0010885	Avascular necrosis	55325	UFSP2	OMIM:142669
HP:0010885	Avascular necrosis	11277	TREX1	ORPHA:247691
HP:0010885	Avascular necrosis	59341	TRPV4	OMIM:617383
HP:0010885	Avascular necrosis	1311	COMP	OMIM:132400
HP:0010885	Avascular necrosis	1311	COMP	ORPHA:93308
HP:0010885	Avascular necrosis	2033	EP300	ORPHA:353284
HP:0010885	Avascular necrosis	10847	SRCAP	ORPHA:2044
HP:0010885	Avascular necrosis	25782	RAB3GAP2	OMIM:212720
HP:0010885	Avascular necrosis	64374	SIL1	ORPHA:559
HP:0010885	Avascular necrosis	51763	INPP5K	ORPHA:559
HP:0010885	Avascular necrosis	1278	COL1A2	ORPHA:1899
HP:0010885	Avascular necrosis	1277	COL1A1	ORPHA:1899
HP:0010885	Avascular necrosis	84295	PHF6	OMIM:301900
HP:0010885	Avascular necrosis	3043	HBB	ORPHA:232
HP:0010885	Avascular necrosis	84196	USP48	ORPHA:96253
HP:0010885	Avascular necrosis	7157	TP53	ORPHA:96253
HP:0010885	Avascular necrosis	9101	USP8	ORPHA:96253
HP:0010885	Avascular necrosis	64072	CDH23	ORPHA:96253
HP:0010885	Avascular necrosis	2908	NR3C1	ORPHA:96253
HP:0010885	Avascular necrosis	673	BRAF	ORPHA:96253
HP:0010885	Avascular necrosis	546	ATRX	ORPHA:96253
HP:0010885	Avascular necrosis	3572	IL6ST	OMIM:619750
HP:0010885	Avascular necrosis	8518	ELP1	ORPHA:1764
HP:0010885	Avascular necrosis	5781	PTPN11	ORPHA:2499
HP:0010885	Avascular necrosis	285590	SH3PXD2B	ORPHA:137834
HP:0010885	Avascular necrosis	3248	HPGD	ORPHA:2796
HP:0010885	Avascular necrosis	6578	SLCO2A1	ORPHA:2796
HP:0010885	Avascular necrosis	411	ARSB	OMIM:253200
HP:0010885	Avascular necrosis	4914	NTRK1	ORPHA:642
HP:0010885	Avascular necrosis	4125	MAN2B1	ORPHA:309282
HP:0010885	Avascular necrosis	4000	LMNA	ORPHA:740
HP:0010885	Avascular necrosis	10269	ZMPSTE24	ORPHA:740
HP:0010885	Avascular necrosis	1186	CLCN7	ORPHA:53
HP:0010885	Avascular necrosis	2629	GBA1	ORPHA:77261
HP:0010885	Avascular necrosis	2629	GBA1	OMIM:230800
HP:0010885	Avascular necrosis	2629	GBA1	ORPHA:77259
HP:0010885	Avascular necrosis	80169	CTC1	ORPHA:1775
HP:0010885	Avascular necrosis	55651	NHP2	ORPHA:1775
HP:0010885	Avascular necrosis	79650	USB1	ORPHA:1775
HP:0010885	Avascular necrosis	55135	WRAP53	ORPHA:1775
HP:0010885	Avascular necrosis	51750	RTEL1	ORPHA:1775
HP:0010885	Avascular necrosis	4869	NPM1	ORPHA:1775
HP:0010885	Avascular necrosis	7012	TERC	ORPHA:1775
HP:0010885	Avascular necrosis	55505	NOP10	ORPHA:1775
HP:0010885	Avascular necrosis	5073	PARN	ORPHA:1775
HP:0010885	Avascular necrosis	7015	TERT	ORPHA:1775
HP:0010885	Avascular necrosis	7015	TERT	OMIM:613989
HP:0010885	Avascular necrosis	1736	DKC1	ORPHA:1775
HP:0010885	Avascular necrosis	7298	TYMS	ORPHA:1775
HP:0010885	Avascular necrosis	950	SCARB2	ORPHA:77259
HP:0010885	Avascular necrosis	149233	IL23R	ORPHA:117
HP:0010885	Avascular necrosis	6775	STAT4	ORPHA:117
HP:0010885	Avascular necrosis	3586	IL10	ORPHA:117
HP:0010885	Avascular necrosis	4210	MEFV	ORPHA:117
HP:0010885	Avascular necrosis	1230	CCR1	ORPHA:117
HP:0010885	Avascular necrosis	355	FAS	ORPHA:117
HP:0010885	Avascular necrosis	3592	IL12A	ORPHA:117
HP:0010885	Avascular necrosis	101928376	IL12A-AS1	ORPHA:117
HP:0010885	Avascular necrosis	3106	HLA-B	ORPHA:117
HP:0010885	Avascular necrosis	7099	TLR4	ORPHA:117
HP:0010885	Avascular necrosis	3459	IFNGR1	ORPHA:117
HP:0010885	Avascular necrosis	720	C4A	ORPHA:117
HP:0010885	Avascular necrosis	337867	UBAC2	ORPHA:117
HP:0010885	Avascular necrosis	51752	ERAP1	ORPHA:117
HP:0010885	Avascular necrosis	8302	KLRC4	ORPHA:117
HP:0010885	Avascular necrosis	4088	SMAD3	ORPHA:284984
HP:0010885	Avascular necrosis	4088	SMAD3	OMIM:613795
HP:0010885	Avascular necrosis	4010	LMX1B	ORPHA:2614
HP:0010885	Avascular necrosis	1298	COL9A2	OMIM:600204
HP:0010885	Avascular necrosis	4322	MMP13	OMIM:250400
HP:0010885	Avascular necrosis	4998	ORC1	OMIM:224690
HP:0010885	Avascular necrosis	176	ACAN	OMIM:165800
HP:0010885	Avascular necrosis	2260	FGFR1	ORPHA:2396
HP:0010885	Avascular necrosis	3845	KRAS	ORPHA:2396
HP:0010885	Avascular necrosis	1859	DYRK1A	ORPHA:268261
HP:0010885	Avascular necrosis	71	ACTG1	ORPHA:2995
HP:0010885	Avascular necrosis	60	ACTB	ORPHA:2995
HP:0010886	Osteochondritis dissecans	4088	SMAD3	ORPHA:284984
HP:0010886	Osteochondritis dissecans	4088	SMAD3	OMIM:613795
HP:0010886	Osteochondritis dissecans	4010	LMX1B	ORPHA:2614
HP:0010886	Osteochondritis dissecans	1298	COL9A2	OMIM:600204
HP:0010886	Osteochondritis dissecans	4322	MMP13	OMIM:250400
HP:0010886	Osteochondritis dissecans	4998	ORC1	OMIM:224690
HP:0010886	Osteochondritis dissecans	176	ACAN	OMIM:165800
HP:0010880	Increased nuchal translucency	3930	LBR	OMIM:215140
HP:0010880	Increased nuchal translucency	23476	BRD4	ORPHA:199
HP:0010880	Increased nuchal translucency	9126	SMC3	ORPHA:199
HP:0010880	Increased nuchal translucency	8243	SMC1A	ORPHA:199
HP:0010880	Increased nuchal translucency	25836	NIPBL	ORPHA:199
HP:0010880	Increased nuchal translucency	55869	HDAC8	ORPHA:199
HP:0010880	Increased nuchal translucency	5885	RAD21	ORPHA:199
HP:0010880	Increased nuchal translucency	699	BUB1	OMIM:620183
HP:0010880	Increased nuchal translucency	699	BUB1	ORPHA:1052
HP:0010880	Increased nuchal translucency	1725	DHPS	OMIM:618480
HP:0010880	Increased nuchal translucency	9321	TRIP11	OMIM:200600
HP:0010880	Increased nuchal translucency	104	ADARB1	OMIM:618862
HP:0010880	Increased nuchal translucency	4593	MUSK	OMIM:208150
HP:0010880	Increased nuchal translucency	8216	LZTR1	OMIM:616564
HP:0010880	Increased nuchal translucency	8216	LZTR1	OMIM:605275
HP:0010880	Increased nuchal translucency	29895	MYL11	OMIM:619110
HP:0010880	Increased nuchal translucency	10274	STAG1	OMIM:617635
HP:0010880	Increased nuchal translucency	2261	FGFR3	ORPHA:1860
HP:0010880	Increased nuchal translucency	2261	FGFR3	ORPHA:93274
HP:0010880	Increased nuchal translucency	6804	STX1A	ORPHA:904
HP:0010880	Increased nuchal translucency	7461	CLIP2	ORPHA:904
HP:0010880	Increased nuchal translucency	84277	DNAJC30	ORPHA:904
HP:0010880	Increased nuchal translucency	8468	FKBP6	ORPHA:904
HP:0010880	Increased nuchal translucency	5982	RFC2	ORPHA:904
HP:0010880	Increased nuchal translucency	2969	GTF2I	ORPHA:904
HP:0010880	Increased nuchal translucency	3984	LIMK1	ORPHA:904
HP:0010880	Increased nuchal translucency	9569	GTF2IRD1	ORPHA:904
HP:0010880	Increased nuchal translucency	155382	VPS37D	ORPHA:904
HP:0010880	Increased nuchal translucency	155368	METTL27	ORPHA:904
HP:0010880	Increased nuchal translucency	114049	BUD23	ORPHA:904
HP:0010880	Increased nuchal translucency	7458	EIF4H	ORPHA:904
HP:0010880	Increased nuchal translucency	84163	GTF2IRD2	ORPHA:904
HP:0010880	Increased nuchal translucency	9275	BCL7B	ORPHA:904
HP:0010880	Increased nuchal translucency	26608	TBL2	ORPHA:904
HP:0010880	Increased nuchal translucency	653361	NCF1	ORPHA:904
HP:0010880	Increased nuchal translucency	135886	TMEM270	ORPHA:904
HP:0010880	Increased nuchal translucency	51085	MLXIPL	ORPHA:904
HP:0010880	Increased nuchal translucency	9031	BAZ1B	ORPHA:904
HP:0010880	Increased nuchal translucency	2006	ELN	ORPHA:904
HP:0010880	Increased nuchal translucency	79770	TXNDC15	OMIM:619879
HP:0010880	Increased nuchal translucency	415	ARSL	ORPHA:79345
HP:0010880	Increased nuchal translucency	83475	DOHH	OMIM:620066
HP:0010880	Increased nuchal translucency	3190	HNRNPK	ORPHA:352665
HP:0010880	Increased nuchal translucency	3190	HNRNPK	ORPHA:453504
HP:0010880	Increased nuchal translucency	23556	PIGN	ORPHA:280633
HP:0010880	Increased nuchal translucency	9896	FIG4	ORPHA:3472
HP:0010880	Increased nuchal translucency	55697	VAC14	ORPHA:3472
HP:0010880	Increased nuchal translucency	9184	BUB3	ORPHA:1052
HP:0010880	Increased nuchal translucency	9702	CEP57	ORPHA:1052
HP:0010880	Increased nuchal translucency	9319	TRIP13	ORPHA:1052
HP:0010880	Increased nuchal translucency	701	BUB1B	ORPHA:1052
HP:0010880	Increased nuchal translucency	2050	EPHB4	OMIM:617300
HP:0010880	Increased nuchal translucency	1822	ATN1	OMIM:618494
HP:0010880	Increased nuchal translucency	55790	CSGALNACT1	OMIM:618870
HP:0010880	Increased nuchal translucency	10082	GPC6	ORPHA:93329
HP:0010880	Increased nuchal translucency	4953	ODC1	ORPHA:544488
HP:0010880	Increased nuchal translucency	1717	DHCR7	ORPHA:818
HP:0010880	Increased nuchal translucency	168667	BMPER	OMIM:608022
HP:0007827	Nodular corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007834	Progressive cataract	1409	CRYAA	OMIM:604219
HP:0007834	Progressive cataract	8419	BFSP2	OMIM:611597
HP:0007830	Adult-onset night blindness	5961	PRPH2	OMIM:608133
HP:0007830	Adult-onset night blindness	6094	ROM1	OMIM:608133
HP:0007830	Adult-onset night blindness	114902	C1QTNF5	OMIM:605670
HP:0007832	Pigmentation of the sclera	5573	PRKAR1A	OMIM:160980
HP:0007832	Pigmentation of the sclera	3081	HGD	OMIM:203500
HP:0007833	Anterior chamber synechiae	145173	B3GLCT	ORPHA:709
HP:0007833	Anterior chamber synechiae	4693	NDP	ORPHA:649
HP:0007833	Anterior chamber synechiae	6775	STAT4	ORPHA:85410
HP:0007833	Anterior chamber synechiae	3560	IL2RB	ORPHA:85410
HP:0007833	Anterior chamber synechiae	79722	ANKRD55	ORPHA:85410
HP:0007833	Anterior chamber synechiae	26191	PTPN22	ORPHA:85410
HP:0007833	Anterior chamber synechiae	919	CD247	ORPHA:85410
HP:0007833	Anterior chamber synechiae	3559	IL2RA	ORPHA:85410
HP:0007833	Anterior chamber synechiae	5771	PTPN2	ORPHA:85410
HP:0007833	Anterior chamber synechiae	444	ASPH	OMIM:601552
HP:0007833	Anterior chamber synechiae	58495	OVOL2	OMIM:122000
HP:0007833	Anterior chamber synechiae	58495	OVOL2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	7837	PXDN	OMIM:269400
HP:0007833	Anterior chamber synechiae	5080	PAX6	OMIM:604229
HP:0007833	Anterior chamber synechiae	5080	PAX6	ORPHA:708
HP:0007833	Anterior chamber synechiae	5308	PITX2	ORPHA:708
HP:0007833	Anterior chamber synechiae	30813	VSX1	OMIM:614195
HP:0007833	Anterior chamber synechiae	30813	VSX1	ORPHA:98973
HP:0007833	Anterior chamber synechiae	6935	ZEB1	ORPHA:98973
HP:0007833	Anterior chamber synechiae	79977	GRHL2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	1296	COL8A2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	80781	COL18A1	OMIM:618880
HP:0007833	Anterior chamber synechiae	220202	ATOH7	OMIM:221900
HP:0007833	Anterior chamber synechiae	9227	LRAT	ORPHA:364055
HP:0007833	Anterior chamber synechiae	55812	SPATA7	ORPHA:364055
HP:0007833	Anterior chamber synechiae	6121	RPE65	ORPHA:364055
HP:0007833	Anterior chamber synechiae	167691	LCA5	ORPHA:364055
HP:0007833	Anterior chamber synechiae	170691	ADAMTS17	OMIM:613195
HP:0007833	Anterior chamber synechiae	9215	LARGE1	OMIM:613154
HP:0007833	Anterior chamber synechiae	406987	MIR204	OMIM:616722
HP:0007833	Anterior chamber synechiae	1545	CYP1B1	OMIM:617315
HP:0007833	Anterior chamber synechiae	2301	FOXE3	OMIM:610256
HP:0007833	Anterior chamber synechiae	3166	HMX1	OMIM:612109
HP:0007833	Anterior chamber synechiae	2296	FOXC1	OMIM:602482
HP:0000675	Macrodontia of permanent maxillary central incisor	2972	BRF1	OMIM:616202
HP:0000675	Macrodontia of permanent maxillary central incisor	2972	BRF1	ORPHA:444072
HP:0000675	Macrodontia of permanent maxillary central incisor	1301	COL11A1	OMIM:154780
HP:0000675	Macrodontia of permanent maxillary central incisor	8911	CACNA1I	OMIM:620114
HP:0000675	Macrodontia of permanent maxillary central incisor	10664	CTCF	ORPHA:363611
HP:0000675	Macrodontia of permanent maxillary central incisor	10667	FARS2	ORPHA:466722
HP:0000675	Macrodontia of permanent maxillary central incisor	3778	KCNMA1	OMIM:618729
HP:0000675	Macrodontia of permanent maxillary central incisor	2892	GRIA3	ORPHA:364028
HP:0000675	Macrodontia of permanent maxillary central incisor	526	ATP6V1B2	ORPHA:79500
HP:0000675	Macrodontia of permanent maxillary central incisor	57465	TBC1D24	ORPHA:79500
HP:0000675	Macrodontia of permanent maxillary central incisor	2697	GJA1	OMIM:257850
HP:0000675	Macrodontia of permanent maxillary central incisor	157680	VPS13B	OMIM:216550
HP:0000675	Macrodontia of permanent maxillary central incisor	23241	PACS2	OMIM:618067
HP:0000677	Oligodontia	64840	PORCN	OMIM:305600
HP:0000677	Oligodontia	8313	AXIN2	OMIM:608615
HP:0000677	Oligodontia	8313	AXIN2	ORPHA:99798
HP:0000677	Oligodontia	55703	POLR3B	OMIM:614381
HP:0000677	Oligodontia	55703	POLR3B	OMIM:607694
HP:0000677	Oligodontia	84265	POLR3GL	OMIM:619234
HP:0000677	Oligodontia	29957	SLC25A24	ORPHA:2095
HP:0000677	Oligodontia	29957	SLC25A24	OMIM:612289
HP:0000677	Oligodontia	22856	CHSY1	ORPHA:363417
HP:0000677	Oligodontia	26128	KIFBP	OMIM:609460
HP:0000677	Oligodontia	1857	DVL3	ORPHA:3107
HP:0000677	Oligodontia	7474	WNT5A	ORPHA:3107
HP:0000677	Oligodontia	1855	DVL1	ORPHA:3107
HP:0000677	Oligodontia	1855	DVL1	OMIM:616331
HP:0000677	Oligodontia	2535	FZD2	ORPHA:3107
HP:0000677	Oligodontia	128178	EDARADD	OMIM:614940
HP:0000677	Oligodontia	128178	EDARADD	OMIM:224900
HP:0000677	Oligodontia	128178	EDARADD	ORPHA:99798
HP:0000677	Oligodontia	23394	ADNP	OMIM:615873
HP:0000677	Oligodontia	29123	ANKRD11	ORPHA:2332
HP:0000677	Oligodontia	29123	ANKRD11	OMIM:148050
HP:0000677	Oligodontia	11128	POLR3A	ORPHA:447896
HP:0000677	Oligodontia	11128	POLR3A	OMIM:607694
HP:0000677	Oligodontia	64094	SMOC2	OMIM:125400
HP:0000677	Oligodontia	5745	PTH1R	OMIM:600002
HP:0000677	Oligodontia	10913	EDAR	OMIM:224900
HP:0000677	Oligodontia	4054	LTBP3	OMIM:601216
HP:0000677	Oligodontia	6452	SH3BP2	ORPHA:184
HP:0000677	Oligodontia	6452	SH3BP2	OMIM:118400
HP:0000677	Oligodontia	7204	TRIO	OMIM:617061
HP:0000677	Oligodontia	54880	BCOR	OMIM:300166
HP:0000677	Oligodontia	54880	BCOR	ORPHA:2712
HP:0000677	Oligodontia	4094	MAF	ORPHA:1272
HP:0000677	Oligodontia	5744	PTHLH	OMIM:613382
HP:0000677	Oligodontia	23314	SATB2	ORPHA:251019
HP:0000677	Oligodontia	23314	SATB2	OMIM:612313
HP:0000677	Oligodontia	1896	EDA	OMIM:313500
HP:0000677	Oligodontia	1896	EDA	ORPHA:99798
HP:0000677	Oligodontia	10847	SRCAP	ORPHA:2044
HP:0000677	Oligodontia	84919	PPP1R15B	OMIM:616817
HP:0000677	Oligodontia	84919	PPP1R15B	ORPHA:391408
HP:0000677	Oligodontia	22995	CEP152	OMIM:613823
HP:0000677	Oligodontia	8626	TP63	OMIM:103285
HP:0000677	Oligodontia	93587	TRMT10A	ORPHA:391408
HP:0000677	Oligodontia	9076	CLDN1	ORPHA:59303
HP:0000677	Oligodontia	9076	CLDN1	OMIM:607626
HP:0000677	Oligodontia	526	ATP6V1B2	ORPHA:79499
HP:0000677	Oligodontia	83999	KREMEN1	OMIM:617392
HP:0000677	Oligodontia	3190	HNRNPK	OMIM:616580
HP:0000677	Oligodontia	5286	PIK3C2A	OMIM:618440
HP:0000677	Oligodontia	5286	PIK3C2A	ORPHA:557003
HP:0000677	Oligodontia	387	RHOA	OMIM:618727
HP:0000677	Oligodontia	2316	FLNA	ORPHA:1826
HP:0000677	Oligodontia	2316	FLNA	ORPHA:90650
HP:0000677	Oligodontia	2316	FLNA	ORPHA:90652
HP:0000677	Oligodontia	6885	MAP3K7	ORPHA:1826
HP:0000677	Oligodontia	5308	PITX2	OMIM:180500
HP:0000677	Oligodontia	3759	KCNJ2	OMIM:170390
HP:0000677	Oligodontia	3759	KCNJ2	ORPHA:37553
HP:0000677	Oligodontia	147372	CCBE1	OMIM:235510
HP:0000677	Oligodontia	2260	FGFR1	ORPHA:99798
HP:0000677	Oligodontia	4487	MSX1	ORPHA:99798
HP:0000677	Oligodontia	7341	SUMO1	ORPHA:99798
HP:0000677	Oligodontia	80326	WNT10A	ORPHA:99798
HP:0000677	Oligodontia	3664	IRF6	ORPHA:99798
HP:0000677	Oligodontia	4040	LRP6	ORPHA:99798
HP:0000677	Oligodontia	7039	TGFA	ORPHA:99798
HP:0000677	Oligodontia	7480	WNT10B	ORPHA:99798
HP:0000677	Oligodontia	197131	UBR1	ORPHA:2315
HP:0000677	Oligodontia	79644	SRD5A3	ORPHA:324737
HP:0000677	Oligodontia	222663	SCUBE3	OMIM:619184
HP:0000677	Oligodontia	64919	BCL11B	OMIM:618092
HP:0000677	Oligodontia	1523	CUX1	OMIM:618330
HP:0000677	Oligodontia	25871	NEPRO	OMIM:618853
HP:0000677	Oligodontia	8517	IKBKG	OMIM:308300
HP:0000677	Oligodontia	6197	RPS6KA3	ORPHA:276630
HP:0000677	Oligodontia	3762	KCNJ5	ORPHA:37553
HP:0000677	Oligodontia	54084	TSPEAR	OMIM:620173
HP:0000677	Oligodontia	10075	HUWE1	OMIM:309590
HP:0000677	Oligodontia	5083	PAX9	OMIM:604625
HP:0000678	Dental crowding	9949	AMMECR1	OMIM:300990
HP:0000678	Dental crowding	875	CBS	ORPHA:394
HP:0000678	Dental crowding	875	CBS	OMIM:236200
HP:0000678	Dental crowding	8243	SMC1A	OMIM:301044
HP:0000678	Dental crowding	6134	RPL10	OMIM:300998
HP:0000678	Dental crowding	6134	RPL10	ORPHA:435938
HP:0000678	Dental crowding	1281	COL3A1	OMIM:618343
HP:0000678	Dental crowding	341640	FREM2	ORPHA:2052
HP:0000678	Dental crowding	80144	FRAS1	ORPHA:2052
HP:0000678	Dental crowding	80144	FRAS1	OMIM:219000
HP:0000678	Dental crowding	23426	GRIP1	ORPHA:2052
HP:0000678	Dental crowding	23013	SPEN	OMIM:619312
HP:0000678	Dental crowding	5351	PLOD1	OMIM:225400
HP:0000678	Dental crowding	54517	PUS7	OMIM:618342
HP:0000678	Dental crowding	5648	MASP1	OMIM:257920
HP:0000678	Dental crowding	23314	SATB2	ORPHA:251028
HP:0000678	Dental crowding	23314	SATB2	ORPHA:251019
HP:0000678	Dental crowding	23314	SATB2	OMIM:612313
HP:0000678	Dental crowding	5332	PLCB4	OMIM:614669
HP:0000678	Dental crowding	5332	PLCB4	ORPHA:137888
HP:0000678	Dental crowding	6418	SET	OMIM:618106
HP:0000678	Dental crowding	50814	NSDHL	ORPHA:251383
HP:0000678	Dental crowding	50814	NSDHL	OMIM:300831
HP:0000678	Dental crowding	2263	FGFR2	OMIM:123500
HP:0000678	Dental crowding	2263	FGFR2	OMIM:101600
HP:0000678	Dental crowding	3481	IGF2	ORPHA:231140
HP:0000678	Dental crowding	283120	H19	ORPHA:231140
HP:0000678	Dental crowding	23118	TAB2	ORPHA:228410
HP:0000678	Dental crowding	1387	CREBBP	ORPHA:353281
HP:0000678	Dental crowding	1387	CREBBP	OMIM:180849
HP:0000678	Dental crowding	1387	CREBBP	ORPHA:353277
HP:0000678	Dental crowding	91179	SCARF2	OMIM:600920
HP:0000678	Dental crowding	4854	NOTCH3	OMIM:130720
HP:0000678	Dental crowding	4854	NOTCH3	ORPHA:2789
HP:0000678	Dental crowding	1278	COL1A2	ORPHA:230851
HP:0000678	Dental crowding	80816	ASXL3	OMIM:615485
HP:0000678	Dental crowding	80816	ASXL3	ORPHA:352577
HP:0000678	Dental crowding	55209	SETD5	OMIM:615761
HP:0000678	Dental crowding	1855	DVL1	OMIM:616331
HP:0000678	Dental crowding	1855	DVL1	OMIM:180700
HP:0000678	Dental crowding	10026	PIGK	OMIM:618879
HP:0000678	Dental crowding	2033	EP300	ORPHA:353284
HP:0000678	Dental crowding	2033	EP300	OMIM:180849
HP:0000678	Dental crowding	4000	LMNA	OMIM:248370
HP:0000678	Dental crowding	4000	LMNA	ORPHA:740
HP:0000678	Dental crowding	1289	COL5A1	OMIM:619329
HP:0000678	Dental crowding	5190	PEX6	OMIM:616617
HP:0000678	Dental crowding	51114	ZDHHC9	ORPHA:776
HP:0000678	Dental crowding	65109	UPF3B	ORPHA:776
HP:0000678	Dental crowding	9968	MED12	ORPHA:776
HP:0000678	Dental crowding	9968	MED12	ORPHA:93932
HP:0000678	Dental crowding	9968	MED12	OMIM:309520
HP:0000678	Dental crowding	9968	MED12	OMIM:305450
HP:0000678	Dental crowding	4952	OCRL	ORPHA:534
HP:0000678	Dental crowding	57231	SNX14	ORPHA:397709
HP:0000678	Dental crowding	57231	SNX14	OMIM:616354
HP:0000678	Dental crowding	6660	SOX5	ORPHA:313892
HP:0000678	Dental crowding	6660	SOX5	OMIM:616803
HP:0000678	Dental crowding	56992	KIF15	ORPHA:261323
HP:0000678	Dental crowding	4621	MYH3	OMIM:193700
HP:0000678	Dental crowding	2200	FBN1	OMIM:154700
HP:0000678	Dental crowding	54496	PRMT7	OMIM:617157
HP:0000678	Dental crowding	85358	SHANK3	ORPHA:48652
HP:0000678	Dental crowding	816	CAMK2B	OMIM:617799
HP:0000678	Dental crowding	56172	ANKH	OMIM:123000
HP:0000678	Dental crowding	3572	IL6ST	OMIM:618523
HP:0000678	Dental crowding	201163	FLCN	OMIM:610883
HP:0000678	Dental crowding	64131	XYLT1	OMIM:615777
HP:0000678	Dental crowding	84100	ARL6	OMIM:209900
HP:0000678	Dental crowding	79140	CCDC28B	OMIM:209900
HP:0000678	Dental crowding	582	BBS1	OMIM:209900
HP:0000678	Dental crowding	29940	DSE	OMIM:615539
HP:0000678	Dental crowding	3759	KCNJ2	OMIM:170390
HP:0000678	Dental crowding	3759	KCNJ2	ORPHA:37553
HP:0000678	Dental crowding	1717	DHCR7	OMIM:270400
HP:0000678	Dental crowding	222663	SCUBE3	OMIM:619184
HP:0000678	Dental crowding	7703	PCGF2	OMIM:618371
HP:0000678	Dental crowding	9839	ZEB2	ORPHA:261552
HP:0000678	Dental crowding	9839	ZEB2	ORPHA:261537
HP:0000678	Dental crowding	57190	SELENON	ORPHA:2020
HP:0000678	Dental crowding	58	ACTA1	ORPHA:2020
HP:0000678	Dental crowding	4633	MYL2	ORPHA:2020
HP:0000678	Dental crowding	3679	ITGA7	ORPHA:2020
HP:0000678	Dental crowding	7169	TPM2	ORPHA:2020
HP:0000678	Dental crowding	9200	HACD1	ORPHA:2020
HP:0000678	Dental crowding	7170	TPM3	ORPHA:2020
HP:0000678	Dental crowding	51776	MAP3K20	ORPHA:2020
HP:0000678	Dental crowding	5424	POLD1	OMIM:615381
HP:0000678	Dental crowding	23327	NEDD4L	OMIM:617201
HP:0000678	Dental crowding	4015	LOX	OMIM:617168
HP:0000678	Dental crowding	26040	SETBP1	OMIM:616078
HP:0000678	Dental crowding	25	ABL1	OMIM:617602
HP:0000678	Dental crowding	545	ATR	OMIM:210600
HP:0000678	Dental crowding	4591	TRIM37	OMIM:253250
HP:0000678	Dental crowding	23384	SPECC1L	OMIM:145420
HP:0000678	Dental crowding	2783	GNB2	OMIM:619503
HP:0000678	Dental crowding	1906	EDN1	ORPHA:137888
HP:0000678	Dental crowding	2773	GNAI3	ORPHA:137888
HP:0000678	Dental crowding	2773	GNAI3	OMIM:602483
HP:0000678	Dental crowding	2697	GJA1	OMIM:257850
HP:0000678	Dental crowding	6611	SMS	ORPHA:3063
HP:0000678	Dental crowding	6611	SMS	OMIM:309583
HP:0000678	Dental crowding	10269	ZMPSTE24	OMIM:608612
HP:0000678	Dental crowding	10269	ZMPSTE24	ORPHA:740
HP:0000678	Dental crowding	9895	TECPR2	OMIM:615031
HP:0000678	Dental crowding	9895	TECPR2	ORPHA:320385
HP:0000678	Dental crowding	57498	KIDINS220	OMIM:617296
HP:0000678	Dental crowding	57003	CCDC47	OMIM:618268
HP:0000678	Dental crowding	8260	NAA10	OMIM:309800
HP:0000678	Dental crowding	54880	BCOR	OMIM:309800
HP:0000678	Dental crowding	3590	IL11RA	OMIM:614188
HP:0000678	Dental crowding	7204	TRIO	OMIM:618825
HP:0000678	Dental crowding	7204	TRIO	OMIM:617061
HP:0000678	Dental crowding	7204	TRIO	ORPHA:476126
HP:0000678	Dental crowding	1909	EDNRA	OMIM:616367
HP:0000678	Dental crowding	2887	GRB10	ORPHA:96182
HP:0000678	Dental crowding	4247	MGAT2	ORPHA:79329
HP:0000678	Dental crowding	4841	NONO	OMIM:300967
HP:0000678	Dental crowding	4841	NONO	ORPHA:466791
HP:0000678	Dental crowding	8567	MADD	OMIM:619005
HP:0000678	Dental crowding	6197	RPS6KA3	OMIM:300844
HP:0000678	Dental crowding	163175	LGI4	OMIM:617468
HP:0000678	Dental crowding	51341	ZBTB7A	OMIM:619769
HP:0000678	Dental crowding	113246	C12orf57	OMIM:218340
HP:0000678	Dental crowding	139285	AMER1	OMIM:300373
HP:0000678	Dental crowding	3187	HNRNPH1	OMIM:620083
HP:0000678	Dental crowding	4920	ROR2	OMIM:268310
HP:0000678	Dental crowding	55084	SOBP	OMIM:613671
HP:0000678	Dental crowding	650	BMP2	OMIM:617877
HP:0000678	Dental crowding	8815	BANF1	OMIM:614008
HP:0000678	Dental crowding	3643	INSR	ORPHA:769
HP:0000678	Dental crowding	7474	WNT5A	OMIM:180700
HP:0000678	Dental crowding	11141	IL1RAPL1	OMIM:300143
HP:0000678	Dental crowding	101929726	MYMX	OMIM:619941
HP:0000678	Dental crowding	284361	EMC10	OMIM:619264
HP:0000678	Dental crowding	4921	DDR2	OMIM:618175
HP:0000678	Dental crowding	2260	FGFR1	OMIM:101600
HP:0000678	Dental crowding	529	ATP6V1E1	OMIM:617402
HP:0000678	Dental crowding	6878	TAF6	OMIM:617126
HP:0000678	Dental crowding	7227	TRPS1	OMIM:190351
HP:0000678	Dental crowding	3762	KCNJ5	ORPHA:37553
HP:0000679	Taurodontia	1896	EDA	OMIM:305100
HP:0000679	Taurodontia	1896	EDA	ORPHA:99798
HP:0000679	Taurodontia	64388	GREM2	OMIM:617275
HP:0000679	Taurodontia	10117	ENAM	OMIM:204650
HP:0000679	Taurodontia	2972	BRF1	OMIM:616202
HP:0000679	Taurodontia	2972	BRF1	ORPHA:444072
HP:0000679	Taurodontia	2591	GALNT3	OMIM:211900
HP:0000679	Taurodontia	1107	CHD3	OMIM:618205
HP:0000679	Taurodontia	4040	LRP6	OMIM:616724
HP:0000679	Taurodontia	4040	LRP6	ORPHA:99798
HP:0000679	Taurodontia	2248	FGF3	ORPHA:2791
HP:0000679	Taurodontia	5189	PEX1	ORPHA:3220
HP:0000679	Taurodontia	5190	PEX6	ORPHA:3220
HP:0000679	Taurodontia	8626	TP63	OMIM:129400
HP:0000679	Taurodontia	8626	TP63	ORPHA:1896
HP:0000679	Taurodontia	4750	NEK1	ORPHA:2751
HP:0000679	Taurodontia	2260	FGFR1	ORPHA:99798
HP:0000679	Taurodontia	4487	MSX1	ORPHA:99798
HP:0000679	Taurodontia	128178	EDARADD	ORPHA:99798
HP:0000679	Taurodontia	5083	PAX9	ORPHA:99798
HP:0000679	Taurodontia	7341	SUMO1	ORPHA:99798
HP:0000679	Taurodontia	80326	WNT10A	ORPHA:99798
HP:0000679	Taurodontia	8313	AXIN2	ORPHA:99798
HP:0000679	Taurodontia	3664	IRF6	ORPHA:99798
HP:0000679	Taurodontia	7039	TGFA	ORPHA:99798
HP:0000679	Taurodontia	7480	WNT10B	ORPHA:99798
HP:0000679	Taurodontia	2697	GJA1	ORPHA:2710
HP:0000679	Taurodontia	2697	GJA1	OMIM:164200
HP:0000679	Taurodontia	64094	SMOC2	OMIM:125400
HP:0000679	Taurodontia	1747	DLX3	OMIM:190320
HP:0000679	Taurodontia	1747	DLX3	ORPHA:3352
HP:0000679	Taurodontia	1747	DLX3	OMIM:104510
HP:0000679	Taurodontia	57728	WDR19	OMIM:614378
HP:0000679	Taurodontia	57728	WDR19	ORPHA:1515
HP:0000679	Taurodontia	80169	CTC1	ORPHA:1775
HP:0000679	Taurodontia	26277	TINF2	ORPHA:1775
HP:0000679	Taurodontia	55651	NHP2	ORPHA:1775
HP:0000679	Taurodontia	79650	USB1	ORPHA:1775
HP:0000679	Taurodontia	55135	WRAP53	ORPHA:1775
HP:0000679	Taurodontia	51750	RTEL1	ORPHA:1775
HP:0000679	Taurodontia	4869	NPM1	ORPHA:1775
HP:0000679	Taurodontia	7012	TERC	ORPHA:1775
HP:0000679	Taurodontia	55505	NOP10	ORPHA:1775
HP:0000679	Taurodontia	5073	PARN	ORPHA:1775
HP:0000679	Taurodontia	7015	TERT	ORPHA:1775
HP:0000679	Taurodontia	1736	DKC1	ORPHA:1775
HP:0000679	Taurodontia	7298	TYMS	ORPHA:1775
HP:0000679	Taurodontia	2314	FLII	ORPHA:819
HP:0000679	Taurodontia	23096	IQSEC2	ORPHA:819
HP:0000679	Taurodontia	10743	RAI1	ORPHA:819
HP:0000679	Taurodontia	10522	DEAF1	ORPHA:819
HP:0000679	Taurodontia	3914	LAMB3	OMIM:104530
HP:0000679	Taurodontia	57539	WDR35	ORPHA:1515
HP:0000679	Taurodontia	112752	IFT43	ORPHA:1515
HP:0000679	Taurodontia	51098	IFT52	ORPHA:1515
HP:0000679	Taurodontia	55764	IFT122	ORPHA:1515
HP:0000679	Taurodontia	4952	OCRL	ORPHA:534
HP:0010891	Morbus Scheuermann	84295	PHF6	OMIM:301900
HP:0010891	Morbus Scheuermann	1280	COL2A1	OMIM:108300
HP:0010892	Abnormal circulating branched chain amino acid concentration	56922	MCCC1	ORPHA:6
HP:0010892	Abnormal circulating branched chain amino acid concentration	64087	MCCC2	ORPHA:6
HP:0010892	Abnormal circulating branched chain amino acid concentration	1629	DBT	OMIM:248600
HP:0010892	Abnormal circulating branched chain amino acid concentration	593	BCKDHA	OMIM:248600
HP:0010892	Abnormal circulating branched chain amino acid concentration	594	BCKDHB	OMIM:248600
HP:0010892	Abnormal circulating branched chain amino acid concentration	10295	BCKDK	OMIM:614923
HP:0010892	Abnormal circulating branched chain amino acid concentration	10367	MICU1	OMIM:615673
HP:0010892	Abnormal circulating branched chain amino acid concentration	152926	PPM1K	OMIM:615135
HP:0010892	Abnormal circulating branched chain amino acid concentration	1738	DLD	ORPHA:2394
HP:0010892	Abnormal circulating branched chain amino acid concentration	587	BCAT2	OMIM:618850
HP:0010892	Abnormal circulating branched chain amino acid concentration	506	ATP5F1B	OMIM:620085
HP:0010893	Abnormal circulating phenylalanine concentration	10841	FTCD	OMIM:229100
HP:0010893	Abnormal circulating phenylalanine concentration	5805	PTS	OMIM:261640
HP:0010893	Abnormal circulating phenylalanine concentration	5860	QDPR	OMIM:261630
HP:0010893	Abnormal circulating phenylalanine concentration	2643	GCH1	ORPHA:98808
HP:0010893	Abnormal circulating phenylalanine concentration	2643	GCH1	OMIM:128230
HP:0010893	Abnormal circulating phenylalanine concentration	4929	NR4A2	ORPHA:98808
HP:0010893	Abnormal circulating phenylalanine concentration	3615	IMPDH2	ORPHA:98808
HP:0010893	Abnormal circulating phenylalanine concentration	5092	PCBD1	OMIM:264070
HP:0010893	Abnormal circulating phenylalanine concentration	6697	SPR	OMIM:612716
HP:0010893	Abnormal circulating phenylalanine concentration	5053	PAH	OMIM:261600
HP:0010894	Abnormal circulating serine family amino acid concentration	2731	GLDC	OMIM:605899
HP:0010894	Abnormal circulating serine family amino acid concentration	275	AMT	OMIM:605899
HP:0010894	Abnormal circulating serine family amino acid concentration	8802	SUCLG1	OMIM:245400
HP:0010894	Abnormal circulating serine family amino acid concentration	100303755	PET117	OMIM:619063
HP:0010894	Abnormal circulating serine family amino acid concentration	27247	NFU1	OMIM:605711
HP:0010894	Abnormal circulating serine family amino acid concentration	1351	COX8A	OMIM:619059
HP:0010894	Abnormal circulating serine family amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0010894	Abnormal circulating serine family amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0010894	Abnormal circulating serine family amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0010894	Abnormal circulating serine family amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0010894	Abnormal circulating serine family amino acid concentration	9054	NFS1	OMIM:619386
HP:0010894	Abnormal circulating serine family amino acid concentration	200205	IBA57	OMIM:615330
HP:0010894	Abnormal circulating serine family amino acid concentration	55532	SLC30A10	ORPHA:309854
HP:0010894	Abnormal circulating serine family amino acid concentration	388962	BOLA3	OMIM:614299
HP:0010894	Abnormal circulating serine family amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0010894	Abnormal circulating serine family amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0010894	Abnormal circulating serine family amino acid concentration	51218	GLRX5	OMIM:616859
HP:0010894	Abnormal circulating serine family amino acid concentration	326625	MMAB	OMIM:251110
HP:0010894	Abnormal circulating serine family amino acid concentration	4594	MMUT	OMIM:251000
HP:0010894	Abnormal circulating serine family amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0010894	Abnormal circulating serine family amino acid concentration	166785	MMAA	OMIM:251100
HP:0010894	Abnormal circulating serine family amino acid concentration	5095	PCCA	OMIM:606054
HP:0010894	Abnormal circulating serine family amino acid concentration	5096	PCCB	OMIM:606054
HP:0010894	Abnormal circulating serine family amino acid concentration	3664	IRF6	ORPHA:1300
HP:0010894	Abnormal circulating serine family amino acid concentration	55163	PNPO	ORPHA:79096
HP:0010894	Abnormal circulating serine family amino acid concentration	1757	SARDH	ORPHA:3129
HP:0010894	Abnormal circulating serine family amino acid concentration	1757	SARDH	OMIM:268900
HP:0010894	Abnormal circulating serine family amino acid concentration	29968	PSAT1	OMIM:610992
HP:0010894	Abnormal circulating serine family amino acid concentration	26227	PHGDH	ORPHA:79351
HP:0010894	Abnormal circulating serine family amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0010894	Abnormal circulating serine family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010894	Abnormal circulating serine family amino acid concentration	5723	PSPH	ORPHA:79350
HP:0010894	Abnormal circulating serine family amino acid concentration	5723	PSPH	OMIM:614023
HP:0010895	Abnormal circulating glycine concentration	2731	GLDC	OMIM:605899
HP:0010895	Abnormal circulating glycine concentration	275	AMT	OMIM:605899
HP:0010895	Abnormal circulating glycine concentration	8802	SUCLG1	OMIM:245400
HP:0010895	Abnormal circulating glycine concentration	100303755	PET117	OMIM:619063
HP:0010895	Abnormal circulating glycine concentration	9056	SLC7A7	ORPHA:470
HP:0010895	Abnormal circulating glycine concentration	27247	NFU1	OMIM:605711
HP:0010895	Abnormal circulating glycine concentration	1351	COX8A	OMIM:619059
HP:0010895	Abnormal circulating glycine concentration	348932	SLC6A18	ORPHA:42062
HP:0010895	Abnormal circulating glycine concentration	153201	SLC36A2	ORPHA:42062
HP:0010895	Abnormal circulating glycine concentration	54716	SLC6A20	ORPHA:42062
HP:0010895	Abnormal circulating glycine concentration	340024	SLC6A19	ORPHA:42062
HP:0010895	Abnormal circulating glycine concentration	9054	NFS1	OMIM:619386
HP:0010895	Abnormal circulating glycine concentration	200205	IBA57	OMIM:615330
HP:0010895	Abnormal circulating glycine concentration	55532	SLC30A10	ORPHA:309854
HP:0010895	Abnormal circulating glycine concentration	388962	BOLA3	OMIM:614299
HP:0010895	Abnormal circulating glycine concentration	498	ATP5F1A	OMIM:620358
HP:0010895	Abnormal circulating glycine concentration	8659	ALDH4A1	ORPHA:79101
HP:0010895	Abnormal circulating glycine concentration	51218	GLRX5	OMIM:616859
HP:0010895	Abnormal circulating glycine concentration	326625	MMAB	OMIM:251110
HP:0010895	Abnormal circulating glycine concentration	4594	MMUT	OMIM:251000
HP:0010895	Abnormal circulating glycine concentration	132158	GLYCTK	ORPHA:941
HP:0010895	Abnormal circulating glycine concentration	166785	MMAA	OMIM:251100
HP:0010895	Abnormal circulating glycine concentration	5095	PCCA	OMIM:606054
HP:0010895	Abnormal circulating glycine concentration	5096	PCCB	OMIM:606054
HP:0010895	Abnormal circulating glycine concentration	3664	IRF6	ORPHA:1300
HP:0010895	Abnormal circulating glycine concentration	55163	PNPO	ORPHA:79096
HP:0010895	Abnormal circulating glycine concentration	29968	PSAT1	OMIM:610992
HP:0010895	Abnormal circulating glycine concentration	26227	PHGDH	ORPHA:79351
HP:0010896	Hypersarcosinemia	1757	SARDH	ORPHA:3129
HP:0010896	Hypersarcosinemia	1757	SARDH	OMIM:268900
HP:0010897	Hypersarcosinuria	1757	SARDH	ORPHA:3129
HP:0010898	Abnormal circulating sarcosine concentration	1757	SARDH	ORPHA:3129
HP:0010898	Abnormal circulating sarcosine concentration	1757	SARDH	OMIM:268900
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10157	AASS	ORPHA:2203
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10157	AASS	OMIM:238700
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10157	AASS	ORPHA:3124
HP:0010899	Abnormal circulating aspartate family amino acid concentration	133686	NADK2	ORPHA:431361
HP:0010899	Abnormal circulating aspartate family amino acid concentration	133686	NADK2	OMIM:616034
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10367	MICU1	OMIM:615673
HP:0010899	Abnormal circulating aspartate family amino acid concentration	191	AHCY	OMIM:613752
HP:0010899	Abnormal circulating aspartate family amino acid concentration	191	AHCY	ORPHA:88618
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0010899	Abnormal circulating aspartate family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010899	Abnormal circulating aspartate family amino acid concentration	132	ADK	OMIM:614300
HP:0010899	Abnormal circulating aspartate family amino acid concentration	875	CBS	OMIM:236200
HP:0010899	Abnormal circulating aspartate family amino acid concentration	4143	MAT1A	OMIM:250850
HP:0010899	Abnormal circulating aspartate family amino acid concentration	2184	FAH	OMIM:276700
HP:0010899	Abnormal circulating aspartate family amino acid concentration	27232	GNMT	OMIM:606664
HP:0010899	Abnormal circulating aspartate family amino acid concentration	9652	SKIC3	OMIM:222470
HP:0010899	Abnormal circulating aspartate family amino acid concentration	7019	TFAM	OMIM:617156
HP:0010899	Abnormal circulating aspartate family amino acid concentration	3000	GUCY2D	OMIM:204000
HP:0010899	Abnormal circulating aspartate family amino acid concentration	4552	MTRR	OMIM:236270
HP:0010899	Abnormal circulating aspartate family amino acid concentration	4552	MTRR	ORPHA:2169
HP:0010899	Abnormal circulating aspartate family amino acid concentration	25974	MMACHC	ORPHA:79282
HP:0010899	Abnormal circulating aspartate family amino acid concentration	25974	MMACHC	OMIM:277400
HP:0010899	Abnormal circulating aspartate family amino acid concentration	55788	LMBRD1	ORPHA:79284
HP:0010899	Abnormal circulating aspartate family amino acid concentration	4524	MTHFR	ORPHA:395
HP:0010899	Abnormal circulating aspartate family amino acid concentration	5826	ABCD4	OMIM:614857
HP:0010899	Abnormal circulating aspartate family amino acid concentration	4548	MTR	OMIM:250940
HP:0010899	Abnormal circulating aspartate family amino acid concentration	27249	MMADHC	OMIM:277410
HP:0010899	Abnormal circulating aspartate family amino acid concentration	5052	PRDX1	OMIM:277400
HP:0010899	Abnormal circulating aspartate family amino acid concentration	55163	PNPO	ORPHA:79096
HP:0010899	Abnormal circulating aspartate family amino acid concentration	9056	SLC7A7	OMIM:222700
HP:0007835	S-shaped palpebral fissures	2972	BRF1	ORPHA:444072
HP:0007835	S-shaped palpebral fissures	668	FOXL2	ORPHA:572333
HP:0007836	Mosaic corneal dystrophy	91851	CHRDL1	OMIM:309300
HP:0007838	Progressive ptosis	8106	PABPN1	OMIM:164300
HP:0007838	Progressive ptosis	10755	GIPC1	ORPHA:98897
HP:0007838	Progressive ptosis	100996717	NOTCH2NLC	ORPHA:98897
HP:0007841	Amyloid deposition in the vitreous humor	7276	TTR	OMIM:105210
HP:0007843	Attenuation of retinal blood vessels	7399	USH2A	OMIM:613809
HP:0007843	Attenuation of retinal blood vessels	7401	CLRN1	OMIM:614180
HP:0007843	Attenuation of retinal blood vessels	10594	PRPF8	OMIM:600059
HP:0007843	Attenuation of retinal blood vessels	25794	FSCN2	OMIM:607921
HP:0007843	Attenuation of retinal blood vessels	1121	CHM	OMIM:303100
HP:0007843	Attenuation of retinal blood vessels	4117	MAK	OMIM:614181
HP:0007843	Attenuation of retinal blood vessels	9785	DHX38	OMIM:618220
HP:0007843	Attenuation of retinal blood vessels	54903	MKS1	OMIM:615990
HP:0007843	Attenuation of retinal blood vessels	157657	CFAP418	OMIM:614500
HP:0007843	Attenuation of retinal blood vessels	94137	RP1L1	OMIM:618826
HP:0007843	Attenuation of retinal blood vessels	2677	GGCX	ORPHA:436274
HP:0007843	Attenuation of retinal blood vessels	3035	HARS1	OMIM:614504
HP:0007843	Attenuation of retinal blood vessels	6010	RHO	OMIM:613731
HP:0007843	Attenuation of retinal blood vessels	6010	RHO	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	5145	PDE6A	OMIM:613810
HP:0007843	Attenuation of retinal blood vessels	84839	RAX2	OMIM:620102
HP:0007843	Attenuation of retinal blood vessels	130557	ZNF513	OMIM:613617
HP:0007843	Attenuation of retinal blood vessels	25914	RTTN	ORPHA:468631
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	OMIM:608133
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	6094	ROM1	OMIM:608133
HP:0007843	Attenuation of retinal blood vessels	80781	COL18A1	OMIM:267750
HP:0007843	Attenuation of retinal blood vessels	49855	SCAPER	OMIM:618195
HP:0007843	Attenuation of retinal blood vessels	6101	RP1	OMIM:180100
HP:0007843	Attenuation of retinal blood vessels	3000	GUCY2D	OMIM:601777
HP:0007843	Attenuation of retinal blood vessels	3000	GUCY2D	OMIM:204000
HP:0007843	Attenuation of retinal blood vessels	6017	RLBP1	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	5959	RDH5	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	9227	LRAT	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	55812	SPATA7	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	OMIM:204100
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	OMIM:613794
HP:0007843	Attenuation of retinal blood vessels	167691	LCA5	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	9742	IFT140	OMIM:617781
HP:0007843	Attenuation of retinal blood vessels	9742	IFT140	OMIM:266920
HP:0007843	Attenuation of retinal blood vessels	64801	ARV1	OMIM:617020
HP:0007843	Attenuation of retinal blood vessels	3098	HK1	OMIM:617460
HP:0007843	Attenuation of retinal blood vessels	50939	IMPG2	OMIM:613581
HP:0007843	Attenuation of retinal blood vessels	8842	PROM1	OMIM:612095
HP:0007843	Attenuation of retinal blood vessels	92211	CDHR1	OMIM:613660
HP:0007843	Attenuation of retinal blood vessels	5148	PDE6G	OMIM:613582
HP:0007843	Attenuation of retinal blood vessels	60509	AGBL5	OMIM:617023
HP:0007843	Attenuation of retinal blood vessels	755	CFAP410	OMIM:617547
HP:0007843	Attenuation of retinal blood vessels	123016	TTC8	OMIM:613464
HP:0007843	Attenuation of retinal blood vessels	3420	IDH3B	OMIM:612572
HP:0007843	Attenuation of retinal blood vessels	24148	PRPF6	OMIM:613983
HP:0007843	Attenuation of retinal blood vessels	92840	REEP6	OMIM:617304
HP:0007843	Attenuation of retinal blood vessels	9128	PRPF4	OMIM:615922
HP:0007843	Attenuation of retinal blood vessels	3419	IDH3A	OMIM:619007
HP:0007843	Attenuation of retinal blood vessels	85015	USP45	OMIM:618513
HP:0007843	Attenuation of retinal blood vessels	768206	PRCD	OMIM:610599
HP:0007843	Attenuation of retinal blood vessels	388939	PCARE	OMIM:613428
HP:0007843	Attenuation of retinal blood vessels	23020	SNRNP200	OMIM:610359
HP:0007843	Attenuation of retinal blood vessels	57096	RPGRIP1	OMIM:613826
HP:0007843	Attenuation of retinal blood vessels	6742	SSBP1	OMIM:165510
HP:0007843	Attenuation of retinal blood vessels	346007	EYS	OMIM:602772
HP:0007843	Attenuation of retinal blood vessels	3105	HLA-A	ORPHA:179
HP:0007843	Attenuation of retinal blood vessels	10210	TOPORS	OMIM:609923
HP:0007843	Attenuation of retinal blood vessels	22926	ATF6	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	5146	PDE6C	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	6103	RPGR	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	5149	PDE6H	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	2780	GNAT2	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	1261	CNGA3	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	54714	CNGB3	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	OMIM:604116
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	OMIM:601718
HP:0007843	Attenuation of retinal blood vessels	83723	TLCD3B	OMIM:619531
HP:0007843	Attenuation of retinal blood vessels	7439	BEST1	OMIM:613194
HP:0007843	Attenuation of retinal blood vessels	112752	IFT43	OMIM:617871
HP:0007843	Attenuation of retinal blood vessels	7275	TUB	OMIM:616188
HP:0007843	Attenuation of retinal blood vessels	64218	SEMA4A	OMIM:610283
HP:0007843	Attenuation of retinal blood vessels	79797	ZNF408	OMIM:616469
HP:0007843	Attenuation of retinal blood vessels	4901	NRL	OMIM:613750
HP:0007843	Attenuation of retinal blood vessels	9187	SLC24A1	OMIM:613830
HP:0007843	Attenuation of retinal blood vessels	1259	CNGA1	OMIM:613756
HP:0007843	Attenuation of retinal blood vessels	51109	RDH11	OMIM:616108
HP:0007843	Attenuation of retinal blood vessels	84100	ARL6	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	79140	CCDC28B	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	582	BBS1	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	26504	CNNM4	OMIM:217080
HP:0007843	Attenuation of retinal blood vessels	6533	SLC6A6	OMIM:145350
HP:0007843	Attenuation of retinal blood vessels	64802	NMNAT1	OMIM:608553
HP:0007843	Attenuation of retinal blood vessels	64802	NMNAT1	OMIM:619260
HP:0007843	Attenuation of retinal blood vessels	2072	ERCC4	OMIM:610965
HP:0007843	Attenuation of retinal blood vessels	23746	AIPL1	OMIM:604393
HP:0007843	Attenuation of retinal blood vessels	3614	IMPDH1	OMIM:180105
HP:0007843	Attenuation of retinal blood vessels	403	ARL3	OMIM:618173
HP:0007843	Attenuation of retinal blood vessels	23418	CRB1	OMIM:600105
HP:0007843	Attenuation of retinal blood vessels	23155	CLCC1	OMIM:609913
HP:0007843	Attenuation of retinal blood vessels	116150	NUS1	OMIM:617082
HP:0007843	Attenuation of retinal blood vessels	26160	IFT172	OMIM:616394
HP:0007843	Attenuation of retinal blood vessels	8481	OFD1	OMIM:300424
HP:0007843	Attenuation of retinal blood vessels	2257	FGF12	OMIM:617166
HP:0007843	Attenuation of retinal blood vessels	57728	WDR19	OMIM:614376
HP:0007843	Attenuation of retinal blood vessels	375298	CERKL	OMIM:608380
HP:0007843	Attenuation of retinal blood vessels	4598	MVK	OMIM:610377
HP:0007843	Attenuation of retinal blood vessels	27241	BBS9	OMIM:615986
HP:0007843	Attenuation of retinal blood vessels	57670	KIAA1549	OMIM:618613
HP:0007843	Attenuation of retinal blood vessels	7287	TULP1	OMIM:613843
HP:0007843	Attenuation of retinal blood vessels	5995	RGR	OMIM:613769
HP:0007843	Attenuation of retinal blood vessels	5158	PDE6B	OMIM:613801
HP:0007843	Attenuation of retinal blood vessels	145226	RDH12	OMIM:612712
HP:0007843	Attenuation of retinal blood vessels	28982	FLVCR1	OMIM:609033
HP:0000680	Delayed eruption of primary teeth	2074	ERCC6	OMIM:133540
HP:0000680	Delayed eruption of primary teeth	2074	ERCC6	ORPHA:90321
HP:0000680	Delayed eruption of primary teeth	2074	ERCC6	ORPHA:90322
HP:0000680	Delayed eruption of primary teeth	1513	CTSK	ORPHA:763
HP:0000680	Delayed eruption of primary teeth	1513	CTSK	OMIM:265800
HP:0000680	Delayed eruption of primary teeth	860	RUNX2	OMIM:119600
HP:0000680	Delayed eruption of primary teeth	221496	LEMD2	OMIM:619322
HP:0000680	Delayed eruption of primary teeth	54539	NDUFB11	OMIM:300952
HP:0000680	Delayed eruption of primary teeth	816	CAMK2B	OMIM:617799
HP:0000680	Delayed eruption of primary teeth	1909	EDNRA	OMIM:616367
HP:0000680	Delayed eruption of primary teeth	2263	FGFR2	OMIM:149730
HP:0000680	Delayed eruption of primary teeth	2314	FLII	ORPHA:819
HP:0000680	Delayed eruption of primary teeth	23096	IQSEC2	ORPHA:819
HP:0000680	Delayed eruption of primary teeth	10743	RAI1	ORPHA:819
HP:0000680	Delayed eruption of primary teeth	10522	DEAF1	ORPHA:819
HP:0000680	Delayed eruption of primary teeth	1161	ERCC8	OMIM:216400
HP:0000680	Delayed eruption of primary teeth	1161	ERCC8	ORPHA:90321
HP:0000680	Delayed eruption of primary teeth	1161	ERCC8	ORPHA:90322
HP:0000680	Delayed eruption of primary teeth	865	CBFB	OMIM:620099
HP:0000680	Delayed eruption of primary teeth	2072	ERCC4	ORPHA:90321
HP:0000680	Delayed eruption of primary teeth	2067	ERCC1	ORPHA:90322
HP:0000683	Grayish enamel	2720	GLB1	OMIM:253010
HP:0000683	Grayish enamel	2588	GALNS	OMIM:253000
HP:0000687	Widely spaced teeth	51574	LARP7	OMIM:615071
HP:0000687	Widely spaced teeth	51574	LARP7	ORPHA:319671
HP:0000687	Widely spaced teeth	8243	SMC1A	OMIM:301044
HP:0000687	Widely spaced teeth	8243	SMC1A	ORPHA:199
HP:0000687	Widely spaced teeth	8367	H4C5	OMIM:619950
HP:0000687	Widely spaced teeth	9759	HDAC4	OMIM:619797
HP:0000687	Widely spaced teeth	1859	DYRK1A	ORPHA:268261
HP:0000687	Widely spaced teeth	60529	ALX4	OMIM:613451
HP:0000687	Widely spaced teeth	23241	PACS2	OMIM:618067
HP:0000687	Widely spaced teeth	81607	NECTIN4	OMIM:613573
HP:0000687	Widely spaced teeth	51126	NAA20	OMIM:619717
HP:0000687	Widely spaced teeth	23394	ADNP	OMIM:615873
HP:0000687	Widely spaced teeth	57539	WDR35	OMIM:613610
HP:0000687	Widely spaced teeth	145173	B3GLCT	ORPHA:709
HP:0000687	Widely spaced teeth	145173	B3GLCT	OMIM:261540
HP:0000687	Widely spaced teeth	85358	SHANK3	OMIM:606232
HP:0000687	Widely spaced teeth	23028	KDM1A	OMIM:616728
HP:0000687	Widely spaced teeth	23028	KDM1A	ORPHA:477993
HP:0000687	Widely spaced teeth	9839	ZEB2	OMIM:235730
HP:0000687	Widely spaced teeth	26115	TANC2	OMIM:618906
HP:0000687	Widely spaced teeth	4125	MAN2B1	ORPHA:309282
HP:0000687	Widely spaced teeth	4125	MAN2B1	OMIM:248500
HP:0000687	Widely spaced teeth	4054	LTBP3	OMIM:601216
HP:0000687	Widely spaced teeth	55869	HDAC8	OMIM:300882
HP:0000687	Widely spaced teeth	55869	HDAC8	ORPHA:199
HP:0000687	Widely spaced teeth	80232	WDR26	ORPHA:513456
HP:0000687	Widely spaced teeth	80232	WDR26	OMIM:617616
HP:0000687	Widely spaced teeth	1747	DLX3	OMIM:190320
HP:0000687	Widely spaced teeth	1747	DLX3	ORPHA:3352
HP:0000687	Widely spaced teeth	9578	CDC42BPB	OMIM:619841
HP:0000687	Widely spaced teeth	10300	KATNB1	OMIM:616212
HP:0000687	Widely spaced teeth	9442	MED27	OMIM:619286
HP:0000687	Widely spaced teeth	8085	KMT2D	ORPHA:2322
HP:0000687	Widely spaced teeth	7403	KDM6A	ORPHA:2322
HP:0000687	Widely spaced teeth	998	CDC42	OMIM:616737
HP:0000687	Widely spaced teeth	998	CDC42	ORPHA:487796
HP:0000687	Widely spaced teeth	6595	SMARCA2	ORPHA:2728
HP:0000687	Widely spaced teeth	6595	SMARCA2	OMIM:619293
HP:0000687	Widely spaced teeth	6595	SMARCA2	OMIM:601358
HP:0000687	Widely spaced teeth	10978	CLP1	OMIM:615803
HP:0000687	Widely spaced teeth	23097	CDK19	OMIM:618916
HP:0000687	Widely spaced teeth	8626	TP63	OMIM:106260
HP:0000687	Widely spaced teeth	6904	TBCD	ORPHA:496641
HP:0000687	Widely spaced teeth	6904	TBCD	OMIM:617193
HP:0000687	Widely spaced teeth	6197	RPS6KA3	OMIM:303600
HP:0000687	Widely spaced teeth	6197	RPS6KA3	ORPHA:192
HP:0000687	Widely spaced teeth	7337	UBE3A	ORPHA:98794
HP:0000687	Widely spaced teeth	7337	UBE3A	ORPHA:98795
HP:0000687	Widely spaced teeth	7337	UBE3A	OMIM:105830
HP:0000687	Widely spaced teeth	7337	UBE3A	ORPHA:411511
HP:0000687	Widely spaced teeth	4948	OCA2	ORPHA:98794
HP:0000687	Widely spaced teeth	90	ACVR1	OMIM:135100
HP:0000687	Widely spaced teeth	55777	MBD5	OMIM:156200
HP:0000687	Widely spaced teeth	51132	RLIM	OMIM:300978
HP:0000687	Widely spaced teeth	153642	ARSK	OMIM:619698
HP:0000687	Widely spaced teeth	23221	RHOBTB2	OMIM:618004
HP:0000687	Widely spaced teeth	3899	AFF3	OMIM:619297
HP:0000687	Widely spaced teeth	9739	SETD1A	OMIM:619056
HP:0000687	Widely spaced teeth	92255	LMBRD2	OMIM:619694
HP:0000687	Widely spaced teeth	9469	CHST3	OMIM:143095
HP:0000687	Widely spaced teeth	816	CAMK2B	OMIM:617799
HP:0000687	Widely spaced teeth	7965	AIMP2	OMIM:618006
HP:0000687	Widely spaced teeth	51109	RDH11	OMIM:616108
HP:0000687	Widely spaced teeth	23389	MED13L	ORPHA:369891
HP:0000687	Widely spaced teeth	83550	GPR101	ORPHA:963
HP:0000687	Widely spaced teeth	83550	GPR101	OMIM:300942
HP:0000687	Widely spaced teeth	9049	AIP	ORPHA:963
HP:0000687	Widely spaced teeth	55764	IFT122	OMIM:218330
HP:0000687	Widely spaced teeth	2248	FGF3	ORPHA:90024
HP:0000687	Widely spaced teeth	2248	FGF3	OMIM:610706
HP:0000687	Widely spaced teeth	7703	PCGF2	OMIM:618371
HP:0000687	Widely spaced teeth	9496	TBX4	ORPHA:261279
HP:0000687	Widely spaced teeth	10087	CERT1	OMIM:616351
HP:0000687	Widely spaced teeth	5277	PIGA	OMIM:300868
HP:0000687	Widely spaced teeth	5277	PIGA	OMIM:301072
HP:0000687	Widely spaced teeth	2720	GLB1	OMIM:253010
HP:0000687	Widely spaced teeth	3340	NDST1	OMIM:616116
HP:0000687	Widely spaced teeth	6304	SATB1	OMIM:619229
HP:0000687	Widely spaced teeth	79718	TBL1XR1	ORPHA:487825
HP:0000687	Widely spaced teeth	79718	TBL1XR1	OMIM:602342
HP:0000687	Widely spaced teeth	23476	BRD4	ORPHA:199
HP:0000687	Widely spaced teeth	9126	SMC3	ORPHA:199
HP:0000687	Widely spaced teeth	25836	NIPBL	ORPHA:199
HP:0000687	Widely spaced teeth	25836	NIPBL	OMIM:122470
HP:0000687	Widely spaced teeth	5885	RAD21	ORPHA:199
HP:0000687	Widely spaced teeth	93650	ACP4	OMIM:617297
HP:0000687	Widely spaced teeth	57003	CCDC47	OMIM:618268
HP:0000687	Widely spaced teeth	9851	KIAA0753	OMIM:619479
HP:0000687	Widely spaced teeth	94005	PIGS	OMIM:618143
HP:0000687	Widely spaced teeth	5792	PTPRF	OMIM:616001
HP:0000687	Widely spaced teeth	2588	GALNS	OMIM:253000
HP:0000687	Widely spaced teeth	1001	CDH3	OMIM:225280
HP:0000687	Widely spaced teeth	1001	CDH3	ORPHA:1897
HP:0000687	Widely spaced teeth	117581	TWIST2	OMIM:209885
HP:0000687	Widely spaced teeth	116115	ZNF526	OMIM:619877
HP:0000687	Widely spaced teeth	3098	HK1	OMIM:618547
HP:0000687	Widely spaced teeth	6638	SNRPN	OMIM:105830
HP:0000687	Widely spaced teeth	526	ATP6V1B2	ORPHA:79500
HP:0000687	Widely spaced teeth	57465	TBC1D24	ORPHA:79500
HP:0000687	Widely spaced teeth	2255	FGF10	OMIM:620193
HP:0000687	Widely spaced teeth	54828	BCAS3	OMIM:619641
HP:0000687	Widely spaced teeth	8314	BAP1	OMIM:619762
HP:0000687	Widely spaced teeth	4841	NONO	OMIM:300967
HP:0000687	Widely spaced teeth	4841	NONO	ORPHA:466791
HP:0000687	Widely spaced teeth	5594	MAPK1	OMIM:619087
HP:0000687	Widely spaced teeth	55755	CDK5RAP2	OMIM:604804
HP:0000687	Widely spaced teeth	51098	IFT52	OMIM:617102
HP:0000687	Widely spaced teeth	57688	ZSWIM6	OMIM:617865
HP:0000687	Widely spaced teeth	5500	PPP1CB	OMIM:617506
HP:0000687	Widely spaced teeth	6925	TCF4	OMIM:610954
HP:0000687	Widely spaced teeth	6748	SSR4	ORPHA:370927
HP:0000687	Widely spaced teeth	6748	SSR4	OMIM:300934
HP:0000687	Widely spaced teeth	4677	NARS1	OMIM:619092
HP:0000687	Widely spaced teeth	9968	MED12	OMIM:300895
HP:0000687	Widely spaced teeth	3423	IDS	OMIM:309900
HP:0000687	Widely spaced teeth	57479	PRR12	OMIM:619539
HP:0000687	Widely spaced teeth	2990	GUSB	OMIM:253220
HP:0000687	Widely spaced teeth	9487	PIGL	OMIM:280000
HP:0000687	Widely spaced teeth	284058	KANSL1	OMIM:610443
HP:0000687	Widely spaced teeth	1107	CHD3	OMIM:618205
HP:0000687	Widely spaced teeth	2260	FGFR1	ORPHA:99798
HP:0000687	Widely spaced teeth	4487	MSX1	ORPHA:99798
HP:0000687	Widely spaced teeth	128178	EDARADD	ORPHA:99798
HP:0000687	Widely spaced teeth	5083	PAX9	ORPHA:99798
HP:0000687	Widely spaced teeth	7341	SUMO1	ORPHA:99798
HP:0000687	Widely spaced teeth	1896	EDA	ORPHA:99798
HP:0000687	Widely spaced teeth	8313	AXIN2	ORPHA:99798
HP:0000687	Widely spaced teeth	3664	IRF6	ORPHA:99798
HP:0000687	Widely spaced teeth	4040	LRP6	ORPHA:99798
HP:0000687	Widely spaced teeth	7039	TGFA	ORPHA:99798
HP:0000687	Widely spaced teeth	7480	WNT10B	ORPHA:99798
HP:0000687	Widely spaced teeth	4204	MECP2	OMIM:300260
HP:0000687	Widely spaced teeth	9742	IFT140	OMIM:266920
HP:0000687	Widely spaced teeth	1968	EIF2S3	OMIM:300148
HP:0000687	Widely spaced teeth	112752	IFT43	OMIM:614099
HP:0000687	Widely spaced teeth	5587	PRKD1	OMIM:617364
HP:0000687	Widely spaced teeth	2702	GJA5	OMIM:612474
HP:0000687	Widely spaced teeth	2703	GJA8	OMIM:612474
HP:0000687	Widely spaced teeth	1801	DPH1	ORPHA:459061
HP:0000687	Widely spaced teeth	80326	WNT10A	OMIM:257980
HP:0000687	Widely spaced teeth	1161	ERCC8	ORPHA:90321
HP:0000687	Widely spaced teeth	1161	ERCC8	ORPHA:90322
HP:0000687	Widely spaced teeth	2072	ERCC4	ORPHA:90321
HP:0000687	Widely spaced teeth	2074	ERCC6	ORPHA:90321
HP:0000687	Widely spaced teeth	2074	ERCC6	ORPHA:90322
HP:0000687	Widely spaced teeth	2067	ERCC1	ORPHA:90322
HP:0000687	Widely spaced teeth	7737	RNF113A	OMIM:300953
HP:0000689	Dental malocclusion	50964	SOST	OMIM:269500
HP:0000689	Dental malocclusion	4088	SMAD3	ORPHA:284984
HP:0000689	Dental malocclusion	4088	SMAD3	OMIM:613795
HP:0000689	Dental malocclusion	2074	ERCC6	OMIM:133540
HP:0000689	Dental malocclusion	2673	GFPT1	OMIM:608931
HP:0000689	Dental malocclusion	1145	CHRNE	OMIM:608931
HP:0000689	Dental malocclusion	341640	FREM2	ORPHA:2052
HP:0000689	Dental malocclusion	80144	FRAS1	ORPHA:2052
HP:0000689	Dental malocclusion	80144	FRAS1	OMIM:219000
HP:0000689	Dental malocclusion	23426	GRIP1	ORPHA:2052
HP:0000689	Dental malocclusion	2972	BRF1	OMIM:616202
HP:0000689	Dental malocclusion	2972	BRF1	ORPHA:444072
HP:0000689	Dental malocclusion	79912	PYROXD1	OMIM:617258
HP:0000689	Dental malocclusion	23314	SATB2	ORPHA:251028
HP:0000689	Dental malocclusion	673	BRAF	OMIM:115150
HP:0000689	Dental malocclusion	673	BRAF	OMIM:163950
HP:0000689	Dental malocclusion	5332	PLCB4	OMIM:614669
HP:0000689	Dental malocclusion	5332	PLCB4	ORPHA:137888
HP:0000689	Dental malocclusion	8818	DPM2	ORPHA:329178
HP:0000689	Dental malocclusion	23363	OBSL1	OMIM:612921
HP:0000689	Dental malocclusion	85358	SHANK3	OMIM:606232
HP:0000689	Dental malocclusion	85358	SHANK3	ORPHA:48652
HP:0000689	Dental malocclusion	10060	ABCC9	OMIM:619719
HP:0000689	Dental malocclusion	3190	HNRNPK	ORPHA:453504
HP:0000689	Dental malocclusion	3190	HNRNPK	OMIM:616580
HP:0000689	Dental malocclusion	3190	HNRNPK	ORPHA:352665
HP:0000689	Dental malocclusion	1387	CREBBP	ORPHA:353281
HP:0000689	Dental malocclusion	1387	CREBBP	OMIM:180849
HP:0000689	Dental malocclusion	1387	CREBBP	ORPHA:353277
HP:0000689	Dental malocclusion	4487	MSX1	ORPHA:199306
HP:0000689	Dental malocclusion	4487	MSX1	ORPHA:99798
HP:0000689	Dental malocclusion	5818	NECTIN1	ORPHA:199306
HP:0000689	Dental malocclusion	1739	DLG1	ORPHA:199306
HP:0000689	Dental malocclusion	652	BMP4	ORPHA:199306
HP:0000689	Dental malocclusion	8626	TP63	ORPHA:199306
HP:0000689	Dental malocclusion	999	CDH1	ORPHA:199306
HP:0000689	Dental malocclusion	5156	PDGFRA	ORPHA:199306
HP:0000689	Dental malocclusion	3664	IRF6	ORPHA:199306
HP:0000689	Dental malocclusion	3664	IRF6	ORPHA:99798
HP:0000689	Dental malocclusion	9411	ARHGAP29	ORPHA:199306
HP:0000689	Dental malocclusion	1748	DLX4	ORPHA:199306
HP:0000689	Dental malocclusion	1855	DVL1	OMIM:616331
HP:0000689	Dental malocclusion	998	CDC42	OMIM:616737
HP:0000689	Dental malocclusion	998	CDC42	ORPHA:487796
HP:0000689	Dental malocclusion	2033	EP300	ORPHA:353284
HP:0000689	Dental malocclusion	2033	EP300	OMIM:180849
HP:0000689	Dental malocclusion	2033	EP300	OMIM:613684
HP:0000689	Dental malocclusion	1161	ERCC8	OMIM:216400
HP:0000689	Dental malocclusion	6595	SMARCA2	OMIM:619293
HP:0000689	Dental malocclusion	6197	RPS6KA3	OMIM:303600
HP:0000689	Dental malocclusion	1146	CHRNG	OMIM:265000
HP:0000689	Dental malocclusion	2316	FLNA	OMIM:305620
HP:0000689	Dental malocclusion	7102	TSPAN7	OMIM:300210
HP:0000689	Dental malocclusion	6452	SH3BP2	OMIM:118400
HP:0000689	Dental malocclusion	4141	MARS1	OMIM:619692
HP:0000689	Dental malocclusion	10265	IRX5	OMIM:611174
HP:0000689	Dental malocclusion	4853	NOTCH2	OMIM:102500
HP:0000689	Dental malocclusion	201163	FLCN	OMIM:610883
HP:0000689	Dental malocclusion	51109	RDH11	OMIM:616108
HP:0000689	Dental malocclusion	51109	RDH11	ORPHA:436245
HP:0000689	Dental malocclusion	1009	CDH11	OMIM:211380
HP:0000689	Dental malocclusion	444	ASPH	OMIM:601552
HP:0000689	Dental malocclusion	2778	GNAS	ORPHA:562
HP:0000689	Dental malocclusion	7703	PCGF2	OMIM:618371
HP:0000689	Dental malocclusion	23347	SMCHD1	OMIM:603457
HP:0000689	Dental malocclusion	80185	TTI2	OMIM:615541
HP:0000689	Dental malocclusion	7403	KDM6A	OMIM:300867
HP:0000689	Dental malocclusion	545	ATR	OMIM:210600
HP:0000689	Dental malocclusion	4591	TRIM37	OMIM:253250
HP:0000689	Dental malocclusion	1954	MEGF8	OMIM:614976
HP:0000689	Dental malocclusion	79633	FAT4	OMIM:615546
HP:0000689	Dental malocclusion	5573	PRKAR1A	OMIM:101800
HP:0000689	Dental malocclusion	1906	EDN1	ORPHA:137888
HP:0000689	Dental malocclusion	8642	DCHS1	OMIM:601390
HP:0000689	Dental malocclusion	54	ACP5	ORPHA:1855
HP:0000689	Dental malocclusion	2697	GJA1	OMIM:257850
HP:0000689	Dental malocclusion	57822	GRHL3	OMIM:606713
HP:0000689	Dental malocclusion	64840	PORCN	OMIM:305600
HP:0000689	Dental malocclusion	10312	TCIRG1	ORPHA:210110
HP:0000689	Dental malocclusion	1186	CLCN7	ORPHA:210110
HP:0000689	Dental malocclusion	9842	PLEKHM1	ORPHA:210110
HP:0000689	Dental malocclusion	3590	IL11RA	OMIM:614188
HP:0000689	Dental malocclusion	6938	TCF12	OMIM:615314
HP:0000689	Dental malocclusion	117581	TWIST2	OMIM:209885
HP:0000689	Dental malocclusion	6804	STX1A	ORPHA:904
HP:0000689	Dental malocclusion	7461	CLIP2	ORPHA:904
HP:0000689	Dental malocclusion	84277	DNAJC30	ORPHA:904
HP:0000689	Dental malocclusion	8468	FKBP6	ORPHA:904
HP:0000689	Dental malocclusion	5982	RFC2	ORPHA:904
HP:0000689	Dental malocclusion	2969	GTF2I	ORPHA:904
HP:0000689	Dental malocclusion	3984	LIMK1	ORPHA:904
HP:0000689	Dental malocclusion	9569	GTF2IRD1	ORPHA:904
HP:0000689	Dental malocclusion	155382	VPS37D	ORPHA:904
HP:0000689	Dental malocclusion	155368	METTL27	ORPHA:904
HP:0000689	Dental malocclusion	114049	BUD23	ORPHA:904
HP:0000689	Dental malocclusion	7458	EIF4H	ORPHA:904
HP:0000689	Dental malocclusion	84163	GTF2IRD2	ORPHA:904
HP:0000689	Dental malocclusion	9275	BCL7B	ORPHA:904
HP:0000689	Dental malocclusion	26608	TBL2	ORPHA:904
HP:0000689	Dental malocclusion	653361	NCF1	ORPHA:904
HP:0000689	Dental malocclusion	135886	TMEM270	ORPHA:904
HP:0000689	Dental malocclusion	51085	MLXIPL	ORPHA:904
HP:0000689	Dental malocclusion	51085	MLXIPL	OMIM:194050
HP:0000689	Dental malocclusion	9031	BAZ1B	ORPHA:904
HP:0000689	Dental malocclusion	2006	ELN	ORPHA:904
HP:0000689	Dental malocclusion	2006	ELN	OMIM:194050
HP:0000689	Dental malocclusion	4534	MTM1	OMIM:310400
HP:0000689	Dental malocclusion	2736	GLI2	OMIM:610829
HP:0000689	Dental malocclusion	79228	THOC6	ORPHA:363444
HP:0000689	Dental malocclusion	79228	THOC6	OMIM:613680
HP:0000689	Dental malocclusion	54880	BCOR	OMIM:300166
HP:0000689	Dental malocclusion	285590	SH3PXD2B	OMIM:249420
HP:0000689	Dental malocclusion	1857	DVL3	OMIM:616894
HP:0000689	Dental malocclusion	5075	PAX1	OMIM:615560
HP:0000689	Dental malocclusion	4041	LRP5	OMIM:144750
HP:0000689	Dental malocclusion	760	CA2	OMIM:259730
HP:0000689	Dental malocclusion	139285	AMER1	OMIM:300373
HP:0000689	Dental malocclusion	6497	SKI	OMIM:182212
HP:0000689	Dental malocclusion	5295	PIK3R1	OMIM:269880
HP:0000689	Dental malocclusion	387	RHOA	OMIM:618727
HP:0000689	Dental malocclusion	8815	BANF1	OMIM:614008
HP:0000689	Dental malocclusion	2260	FGFR1	ORPHA:99798
HP:0000689	Dental malocclusion	128178	EDARADD	ORPHA:99798
HP:0000689	Dental malocclusion	5083	PAX9	ORPHA:99798
HP:0000689	Dental malocclusion	7341	SUMO1	ORPHA:99798
HP:0000689	Dental malocclusion	80326	WNT10A	ORPHA:99798
HP:0000689	Dental malocclusion	1896	EDA	ORPHA:99798
HP:0000689	Dental malocclusion	8313	AXIN2	ORPHA:99798
HP:0000689	Dental malocclusion	4040	LRP6	ORPHA:99798
HP:0000689	Dental malocclusion	7039	TGFA	ORPHA:99798
HP:0000689	Dental malocclusion	7480	WNT10B	ORPHA:99798
HP:0000689	Dental malocclusion	3339	HSPG2	ORPHA:800
HP:0000689	Dental malocclusion	1795	DOCK3	OMIM:618292
HP:0000689	Dental malocclusion	1513	CTSK	ORPHA:763
HP:0000689	Dental malocclusion	27161	AGO2	OMIM:619149
HP:0000689	Dental malocclusion	672	BRCA1	OMIM:617883
HP:0000689	Dental malocclusion	91252	SLC39A13	OMIM:612350
HP:0000689	Dental malocclusion	2261	FGFR3	OMIM:602849
HP:0000689	Dental malocclusion	7227	TRPS1	OMIM:190350
HP:0000689	Dental malocclusion	4654	MYOD1	OMIM:618975
HP:0000689	Dental malocclusion	2719	GPC3	OMIM:312870
HP:0000689	Dental malocclusion	2239	GPC4	OMIM:312870
HP:0000689	Dental malocclusion	5130	PCYT1A	OMIM:608940
HP:0000689	Dental malocclusion	6654	SOS1	OMIM:610733
HP:0000689	Dental malocclusion	2263	FGFR2	OMIM:101200
HP:0000689	Dental malocclusion	5604	MAP2K1	OMIM:163950
HP:0000689	Dental malocclusion	5781	PTPN11	OMIM:163950
HP:0000689	Dental malocclusion	265	AMELX	OMIM:301200
HP:0000689	Dental malocclusion	3694	ITGB6	OMIM:616221
HP:0000689	Dental malocclusion	84957	RELT	OMIM:618386
HP:0000689	Dental malocclusion	650	BMP2	OMIM:617877
HP:0000689	Dental malocclusion	1834	DSPP	OMIM:125500
HP:0000689	Dental malocclusion	8111	GPR68	OMIM:617217
HP:0000689	Dental malocclusion	10117	ENAM	OMIM:204650
HP:0000689	Dental malocclusion	286077	FAM83H	OMIM:130900
HP:0000689	Dental malocclusion	9622	KLK4	OMIM:204700
HP:0000689	Dental malocclusion	526	ATP6V1B2	ORPHA:3473
HP:0000689	Dental malocclusion	3756	KCNH1	ORPHA:3473
HP:0000689	Dental malocclusion	3782	KCNN3	ORPHA:3473
HP:0000689	Dental malocclusion	2773	GNAI3	OMIM:602483
HP:0000689	Dental malocclusion	9313	MMP20	OMIM:612529
HP:0007899	Retinal nonattachment	220202	ATOH7	OMIM:221900
HP:0007899	Retinal nonattachment	5961	PRPH2	ORPHA:99000
HP:0007899	Retinal nonattachment	7439	BEST1	ORPHA:99000
HP:0007899	Retinal nonattachment	50939	IMPG2	ORPHA:99000
HP:0007899	Retinal nonattachment	3617	IMPG1	ORPHA:99000
HP:0007899	Retinal nonattachment	5728	PTEN	ORPHA:744
HP:0007899	Retinal nonattachment	207	AKT1	ORPHA:744
HP:0033701	Cortical sclerosis of the iliac wing	9842	PLEKHM1	OMIM:611497
HP:0033704	Elevated urinary homogentisic acid	3081	HGD	OMIM:203500
HP:0000690	Agenesis of maxillary lateral incisor	641	BLM	OMIM:210900
HP:0000690	Agenesis of maxillary lateral incisor	2071	ERCC3	OMIM:616390
HP:0000690	Agenesis of maxillary lateral incisor	8260	NAA10	OMIM:309800
HP:0000690	Agenesis of maxillary lateral incisor	54880	BCOR	OMIM:309800
HP:0000690	Agenesis of maxillary lateral incisor	2260	FGFR1	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	4487	MSX1	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	128178	EDARADD	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	5083	PAX9	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	7341	SUMO1	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	80326	WNT10A	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	1896	EDA	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	8313	AXIN2	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	3664	IRF6	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	4040	LRP6	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	7039	TGFA	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	7480	WNT10B	ORPHA:99798
HP:0000690	Agenesis of maxillary lateral incisor	145173	B3GLCT	OMIM:261540
HP:0000691	Microdontia	8367	H4C5	OMIM:619950
HP:0000691	Microdontia	2138	EYA1	OMIM:113650
HP:0000691	Microdontia	6495	SIX1	OMIM:113650
HP:0000691	Microdontia	22856	CHSY1	ORPHA:363417
HP:0000691	Microdontia	22856	CHSY1	OMIM:605282
HP:0000691	Microdontia	23394	ADNP	OMIM:615873
HP:0000691	Microdontia	2263	FGFR2	OMIM:149730
HP:0000691	Microdontia	2263	FGFR2	ORPHA:2363
HP:0000691	Microdontia	6938	TCF12	OMIM:619718
HP:0000691	Microdontia	23314	SATB2	ORPHA:251028
HP:0000691	Microdontia	10785	WDR4	OMIM:618347
HP:0000691	Microdontia	57539	WDR35	OMIM:613610
HP:0000691	Microdontia	57539	WDR35	ORPHA:1515
HP:0000691	Microdontia	57539	WDR35	OMIM:614091
HP:0000691	Microdontia	5361	PLXNA1	OMIM:619955
HP:0000691	Microdontia	8626	TP63	OMIM:604292
HP:0000691	Microdontia	8626	TP63	OMIM:103285
HP:0000691	Microdontia	8626	TP63	OMIM:129400
HP:0000691	Microdontia	8626	TP63	ORPHA:1896
HP:0000691	Microdontia	64094	SMOC2	OMIM:125400
HP:0000691	Microdontia	9401	RECQL4	OMIM:268400
HP:0000691	Microdontia	9401	RECQL4	ORPHA:221016
HP:0000691	Microdontia	5308	PITX2	ORPHA:782
HP:0000691	Microdontia	5308	PITX2	OMIM:180500
HP:0000691	Microdontia	2296	FOXC1	ORPHA:782
HP:0000691	Microdontia	2296	FOXC1	OMIM:602482
HP:0000691	Microdontia	4054	LTBP3	OMIM:601216
HP:0000691	Microdontia	5932	RBBP8	OMIM:606744
HP:0000691	Microdontia	10847	SRCAP	OMIM:136140
HP:0000691	Microdontia	10847	SRCAP	ORPHA:2044
HP:0000691	Microdontia	1747	DLX3	OMIM:190320
HP:0000691	Microdontia	1747	DLX3	ORPHA:3352
HP:0000691	Microdontia	8085	KMT2D	ORPHA:2322
HP:0000691	Microdontia	7403	KDM6A	ORPHA:2322
HP:0000691	Microdontia	6595	SMARCA2	ORPHA:2728
HP:0000691	Microdontia	6595	SMARCA2	OMIM:619293
HP:0000691	Microdontia	10982	MAPRE2	OMIM:616734
HP:0000691	Microdontia	112752	IFT43	ORPHA:1515
HP:0000691	Microdontia	51098	IFT52	ORPHA:1515
HP:0000691	Microdontia	55764	IFT122	ORPHA:1515
HP:0000691	Microdontia	55764	IFT122	OMIM:218330
HP:0000691	Microdontia	57728	WDR19	ORPHA:1515
HP:0000691	Microdontia	9126	SMC3	OMIM:610759
HP:0000691	Microdontia	56975	FAM20C	OMIM:259775
HP:0000691	Microdontia	55777	MBD5	OMIM:156200
HP:0000691	Microdontia	5980	REV3L	ORPHA:570
HP:0000691	Microdontia	23129	PLXND1	ORPHA:570
HP:0000691	Microdontia	4784	NFIX	OMIM:602535
HP:0000691	Microdontia	1896	EDA	OMIM:305100
HP:0000691	Microdontia	1896	EDA	ORPHA:181
HP:0000691	Microdontia	1896	EDA	ORPHA:99798
HP:0000691	Microdontia	716	C1S	ORPHA:75392
HP:0000691	Microdontia	715	C1R	ORPHA:75392
HP:0000691	Microdontia	64388	GREM2	OMIM:617275
HP:0000691	Microdontia	57492	ARID1B	OMIM:135900
HP:0000691	Microdontia	10484	SEC23A	ORPHA:50814
HP:0000691	Microdontia	4998	ORC1	OMIM:224690
HP:0000691	Microdontia	92255	LMBRD2	OMIM:619694
HP:0000691	Microdontia	9469	CHST3	OMIM:143095
HP:0000691	Microdontia	9469	CHST3	OMIM:245600
HP:0000691	Microdontia	1009	CDH11	OMIM:619736
HP:0000691	Microdontia	2248	FGF3	ORPHA:90024
HP:0000691	Microdontia	2248	FGF3	OMIM:610706
HP:0000691	Microdontia	197131	UBR1	ORPHA:2315
HP:0000691	Microdontia	5566	PRKACA	ORPHA:289
HP:0000691	Microdontia	5567	PRKACB	ORPHA:289
HP:0000691	Microdontia	2735	GLI1	ORPHA:289
HP:0000691	Microdontia	2121	EVC	ORPHA:289
HP:0000691	Microdontia	51626	DYNC2LI1	ORPHA:289
HP:0000691	Microdontia	132884	EVC2	ORPHA:289
HP:0000691	Microdontia	7703	PCGF2	OMIM:618371
HP:0000691	Microdontia	1281	COL3A1	ORPHA:286
HP:0000691	Microdontia	64919	BCL11B	OMIM:618092
HP:0000691	Microdontia	23522	KAT6B	OMIM:603736
HP:0000691	Microdontia	5277	PIGA	OMIM:300868
HP:0000691	Microdontia	5277	PIGA	OMIM:301072
HP:0000691	Microdontia	6023	RMRP	OMIM:607095
HP:0000691	Microdontia	23545	ATP6V0A2	OMIM:278250
HP:0000691	Microdontia	7020	TFAP2A	ORPHA:1297
HP:0000691	Microdontia	5116	PCNT	OMIM:210720
HP:0000691	Microdontia	5116	PCNT	ORPHA:2637
HP:0000691	Microdontia	89910	UBE3B	ORPHA:2707
HP:0000691	Microdontia	3425	IDUA	OMIM:607014
HP:0000691	Microdontia	9487	PIGL	ORPHA:3474
HP:0000691	Microdontia	2697	GJA1	OMIM:164200
HP:0000691	Microdontia	9653	HS2ST1	OMIM:619194
HP:0000691	Microdontia	7399	USH2A	ORPHA:231178
HP:0000691	Microdontia	79955	PDZD7	ORPHA:231178
HP:0000691	Microdontia	4647	MYO7A	ORPHA:231178
HP:0000691	Microdontia	25861	WHRN	ORPHA:231178
HP:0000691	Microdontia	84059	ADGRV1	ORPHA:231178
HP:0000691	Microdontia	5281	PIGF	OMIM:619356
HP:0000691	Microdontia	10664	CTCF	ORPHA:363611
HP:0000691	Microdontia	57003	CCDC47	OMIM:618268
HP:0000691	Microdontia	5034	P4HB	OMIM:112240
HP:0000691	Microdontia	134218	DNAJC21	OMIM:617052
HP:0000691	Microdontia	9851	KIAA0753	OMIM:619479
HP:0000691	Microdontia	5977	DPF2	OMIM:618027
HP:0000691	Microdontia	55651	NHP2	OMIM:224230
HP:0000691	Microdontia	55505	NOP10	OMIM:224230
HP:0000691	Microdontia	1001	CDH3	OMIM:225280
HP:0000691	Microdontia	1001	CDH3	ORPHA:1897
HP:0000691	Microdontia	29957	SLC25A24	OMIM:612289
HP:0000691	Microdontia	6804	STX1A	ORPHA:904
HP:0000691	Microdontia	7461	CLIP2	ORPHA:904
HP:0000691	Microdontia	84277	DNAJC30	ORPHA:904
HP:0000691	Microdontia	8468	FKBP6	ORPHA:904
HP:0000691	Microdontia	5982	RFC2	ORPHA:904
HP:0000691	Microdontia	2969	GTF2I	ORPHA:904
HP:0000691	Microdontia	3984	LIMK1	ORPHA:904
HP:0000691	Microdontia	9569	GTF2IRD1	ORPHA:904
HP:0000691	Microdontia	155382	VPS37D	ORPHA:904
HP:0000691	Microdontia	155368	METTL27	ORPHA:904
HP:0000691	Microdontia	114049	BUD23	ORPHA:904
HP:0000691	Microdontia	7458	EIF4H	ORPHA:904
HP:0000691	Microdontia	84163	GTF2IRD2	ORPHA:904
HP:0000691	Microdontia	9275	BCL7B	ORPHA:904
HP:0000691	Microdontia	26608	TBL2	ORPHA:904
HP:0000691	Microdontia	653361	NCF1	ORPHA:904
HP:0000691	Microdontia	135886	TMEM270	ORPHA:904
HP:0000691	Microdontia	51085	MLXIPL	ORPHA:904
HP:0000691	Microdontia	51085	MLXIPL	OMIM:194050
HP:0000691	Microdontia	9031	BAZ1B	ORPHA:904
HP:0000691	Microdontia	2006	ELN	ORPHA:904
HP:0000691	Microdontia	2006	ELN	OMIM:194050
HP:0000691	Microdontia	79005	SCNM1	OMIM:620107
HP:0000691	Microdontia	150468	CKAP2L	OMIM:272440
HP:0000691	Microdontia	4796	TONSL	ORPHA:93357
HP:0000691	Microdontia	128178	EDARADD	OMIM:129490
HP:0000691	Microdontia	128178	EDARADD	OMIM:224900
HP:0000691	Microdontia	128178	EDARADD	ORPHA:99798
HP:0000691	Microdontia	10913	EDAR	OMIM:129490
HP:0000691	Microdontia	10913	EDAR	OMIM:224900
HP:0000691	Microdontia	2887	GRB10	ORPHA:96182
HP:0000691	Microdontia	2261	FGFR3	OMIM:620192
HP:0000691	Microdontia	2261	FGFR3	ORPHA:2363
HP:0000691	Microdontia	60401	EDA2R	ORPHA:181
HP:0000691	Microdontia	5594	MAPK1	OMIM:619087
HP:0000691	Microdontia	50485	SMARCAL1	ORPHA:1830
HP:0000691	Microdontia	50485	SMARCAL1	OMIM:242900
HP:0000691	Microdontia	2255	FGF10	ORPHA:2363
HP:0000691	Microdontia	57192	MCOLN1	ORPHA:578
HP:0000691	Microdontia	126792	B3GALT6	ORPHA:536467
HP:0000691	Microdontia	7480	WNT10B	OMIM:617073
HP:0000691	Microdontia	7480	WNT10B	ORPHA:99798
HP:0000691	Microdontia	5295	PIK3R1	ORPHA:3163
HP:0000691	Microdontia	775	CACNA1C	OMIM:601005
HP:0000691	Microdontia	9968	MED12	OMIM:300895
HP:0000691	Microdontia	5818	NECTIN1	OMIM:225060
HP:0000691	Microdontia	387	RHOA	OMIM:618727
HP:0000691	Microdontia	23219	FBXO28	OMIM:619777
HP:0000691	Microdontia	5557	PRIM1	OMIM:620005
HP:0000691	Microdontia	2260	FGFR1	ORPHA:99798
HP:0000691	Microdontia	4487	MSX1	ORPHA:99798
HP:0000691	Microdontia	5083	PAX9	ORPHA:99798
HP:0000691	Microdontia	5083	PAX9	OMIM:604625
HP:0000691	Microdontia	7341	SUMO1	ORPHA:99798
HP:0000691	Microdontia	80326	WNT10A	ORPHA:99798
HP:0000691	Microdontia	8313	AXIN2	ORPHA:99798
HP:0000691	Microdontia	3664	IRF6	ORPHA:99798
HP:0000691	Microdontia	4040	LRP6	ORPHA:99798
HP:0000691	Microdontia	7039	TGFA	ORPHA:99798
HP:0000691	Microdontia	5286	PIK3C2A	ORPHA:557003
HP:0000691	Microdontia	117581	TWIST2	ORPHA:920
HP:0000691	Microdontia	26229	B3GAT3	OMIM:245600
HP:0000691	Microdontia	9742	IFT140	OMIM:266920
HP:0000691	Microdontia	8621	CDK13	OMIM:617360
HP:0000691	Microdontia	341208	HEPHL1	OMIM:261990
HP:0000691	Microdontia	5587	PRKD1	OMIM:617364
HP:0000691	Microdontia	2702	GJA5	OMIM:612474
HP:0000691	Microdontia	2703	GJA8	OMIM:612474
HP:0000691	Microdontia	7227	TRPS1	OMIM:190350
HP:0000691	Microdontia	2706	GJB2	OMIM:148210
HP:0000691	Microdontia	2690	GHR	ORPHA:633
HP:0000691	Microdontia	64682	ANAPC1	ORPHA:221008
HP:0000691	Microdontia	3914	LAMB3	OMIM:104530
HP:0000691	Microdontia	6638	SNRPN	ORPHA:177907
HP:0000691	Microdontia	54499	TMCO1	OMIM:213980
HP:0000691	Microdontia	526	ATP6V1B2	ORPHA:79499
HP:0000694	Odontodysplasia	1834	DSPP	OMIM:125500
HP:0000694	Odontodysplasia	5251	PHEX	ORPHA:89936
HP:0000695	Natal tooth	2737	GLI3	ORPHA:672
HP:0000695	Natal tooth	2737	GLI3	OMIM:146510
HP:0000695	Natal tooth	55703	POLR3B	OMIM:614381
HP:0000695	Natal tooth	1832	DSP	ORPHA:158687
HP:0000695	Natal tooth	1832	DSP	OMIM:609638
HP:0000695	Natal tooth	3728	JUP	ORPHA:158687
HP:0000695	Natal tooth	126695	KDF1	OMIM:617337
HP:0000695	Natal tooth	11128	POLR3A	OMIM:264090
HP:0000695	Natal tooth	11128	POLR3A	ORPHA:3455
HP:0000695	Natal tooth	8085	KMT2D	OMIM:620186
HP:0000695	Natal tooth	2316	FLNA	ORPHA:99811
HP:0000695	Natal tooth	3872	KRT17	OMIM:184500
HP:0000695	Natal tooth	3872	KRT17	OMIM:167210
HP:0000695	Natal tooth	3872	KRT17	ORPHA:2309
HP:0000695	Natal tooth	79813	EHMT1	ORPHA:261652
HP:0000695	Natal tooth	79813	EHMT1	OMIM:610253
HP:0000695	Natal tooth	58508	KMT2C	ORPHA:261652
HP:0000695	Natal tooth	1387	CREBBP	ORPHA:353281
HP:0000695	Natal tooth	1387	CREBBP	ORPHA:353277
HP:0000695	Natal tooth	2263	FGFR2	OMIM:614592
HP:0000695	Natal tooth	2263	FGFR2	OMIM:123790
HP:0000695	Natal tooth	2263	FGFR2	ORPHA:313855
HP:0000695	Natal tooth	22858	CILK1	OMIM:612651
HP:0000695	Natal tooth	2033	EP300	ORPHA:353284
HP:0000695	Natal tooth	56975	FAM20C	OMIM:259775
HP:0000695	Natal tooth	139285	AMER1	OMIM:300373
HP:0000695	Natal tooth	2121	EVC	OMIM:225500
HP:0000695	Natal tooth	132884	EVC2	OMIM:225500
HP:0000695	Natal tooth	153241	CEP120	OMIM:616300
HP:0000695	Natal tooth	64919	BCL11B	OMIM:617237
HP:0000695	Natal tooth	4000	LMNA	ORPHA:1662
HP:0000695	Natal tooth	10269	ZMPSTE24	ORPHA:1662
HP:0000695	Natal tooth	10269	ZMPSTE24	OMIM:275210
HP:0000695	Natal tooth	1801	DPH1	OMIM:616901
HP:0000695	Natal tooth	4750	NEK1	ORPHA:2751
HP:0000695	Natal tooth	404672	GTF2H5	OMIM:616395
HP:0000695	Natal tooth	5745	PTH1R	ORPHA:50945
HP:0000695	Natal tooth	54903	MKS1	OMIM:249000
HP:0000695	Natal tooth	7403	KDM6A	OMIM:300867
HP:0000695	Natal tooth	4281	MID1	ORPHA:2745
HP:0000695	Natal tooth	23384	SPECC1L	OMIM:145420
HP:0000695	Natal tooth	27152	INTU	OMIM:617925
HP:0000695	Natal tooth	7407	VARS1	OMIM:617802
HP:0000695	Natal tooth	26005	C2CD3	OMIM:615948
HP:0000695	Natal tooth	3868	KRT16	ORPHA:2309
HP:0000695	Natal tooth	3853	KRT6A	ORPHA:2309
HP:0000695	Natal tooth	3854	KRT6B	ORPHA:2309
HP:0000696	Delayed eruption of permanent teeth	4920	ROR2	OMIM:268310
HP:0000696	Delayed eruption of permanent teeth	4920	ROR2	OMIM:113000
HP:0000696	Delayed eruption of permanent teeth	2697	GJA1	OMIM:218400
HP:0000696	Delayed eruption of permanent teeth	1513	CTSK	ORPHA:763
HP:0000696	Delayed eruption of permanent teeth	1513	CTSK	OMIM:265800
HP:0000696	Delayed eruption of permanent teeth	860	RUNX2	OMIM:119600
HP:0000696	Delayed eruption of permanent teeth	5281	PIGF	OMIM:619356
HP:0000696	Delayed eruption of permanent teeth	375056	MIA3	OMIM:619269
HP:0000696	Delayed eruption of permanent teeth	54757	FAM20A	OMIM:204690
HP:0000696	Delayed eruption of permanent teeth	92949	ADAMTSL1	ORPHA:521445
HP:0000696	Delayed eruption of permanent teeth	6659	SOX4	OMIM:618506
HP:0000696	Delayed eruption of permanent teeth	4868	NPHS1	ORPHA:839
HP:0000696	Delayed eruption of permanent teeth	3759	KCNJ2	OMIM:170390
HP:0000696	Delayed eruption of permanent teeth	4796	TONSL	ORPHA:93357
HP:0000696	Delayed eruption of permanent teeth	2260	FGFR1	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	4487	MSX1	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	128178	EDARADD	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	5083	PAX9	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	7341	SUMO1	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	80326	WNT10A	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	1896	EDA	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	8313	AXIN2	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	3664	IRF6	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	4040	LRP6	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	7039	TGFA	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	7480	WNT10B	ORPHA:99798
HP:0000696	Delayed eruption of permanent teeth	526	ATP6V1B2	ORPHA:79500
HP:0000696	Delayed eruption of permanent teeth	57465	TBC1D24	ORPHA:79500
HP:0000696	Delayed eruption of permanent teeth	6598	SMARCB1	OMIM:614608
HP:0000696	Delayed eruption of permanent teeth	2542	SLC37A4	ORPHA:79259
HP:0000696	Delayed eruption of permanent teeth	7021	TFAP2B	ORPHA:46627
HP:0000696	Delayed eruption of permanent teeth	64324	NSD1	ORPHA:821
HP:0000696	Delayed eruption of permanent teeth	29072	SETD2	ORPHA:821
HP:0000696	Delayed eruption of permanent teeth	10297	APC2	ORPHA:821
HP:0000698	Conical tooth	54084	TSPEAR	OMIM:618180
HP:0000698	Conical tooth	57492	ARID1B	OMIM:135900
HP:0000698	Conical tooth	9853	RUSC2	OMIM:617773
HP:0000698	Conical tooth	60529	ALX4	OMIM:613451
HP:0000698	Conical tooth	60529	ALX4	ORPHA:228390
HP:0000698	Conical tooth	6603	SMARCD2	OMIM:617475
HP:0000698	Conical tooth	81607	NECTIN4	OMIM:613573
HP:0000698	Conical tooth	387	RHOA	OMIM:618727
HP:0000698	Conical tooth	64682	ANAPC1	OMIM:618625
HP:0000698	Conical tooth	10913	EDAR	OMIM:224900
HP:0000698	Conical tooth	2261	FGFR3	OMIM:620192
HP:0000698	Conical tooth	1500	CTNND1	OMIM:617681
HP:0000698	Conical tooth	1500	CTNND1	ORPHA:1997
HP:0000698	Conical tooth	1723	DHODH	OMIM:263750
HP:0000698	Conical tooth	4792	NFKBIA	OMIM:612132
HP:0000698	Conical tooth	23314	SATB2	OMIM:612313
HP:0000698	Conical tooth	7994	KAT6A	OMIM:616268
HP:0000698	Conical tooth	4750	NEK1	ORPHA:2751
HP:0000698	Conical tooth	4487	MSX1	ORPHA:199306
HP:0000698	Conical tooth	4487	MSX1	ORPHA:99798
HP:0000698	Conical tooth	5818	NECTIN1	ORPHA:199306
HP:0000698	Conical tooth	1739	DLG1	ORPHA:199306
HP:0000698	Conical tooth	652	BMP4	ORPHA:199306
HP:0000698	Conical tooth	8626	TP63	ORPHA:199306
HP:0000698	Conical tooth	999	CDH1	ORPHA:199306
HP:0000698	Conical tooth	5156	PDGFRA	ORPHA:199306
HP:0000698	Conical tooth	3664	IRF6	ORPHA:199306
HP:0000698	Conical tooth	3664	IRF6	ORPHA:99798
HP:0000698	Conical tooth	9411	ARHGAP29	ORPHA:199306
HP:0000698	Conical tooth	1748	DLX4	ORPHA:199306
HP:0000698	Conical tooth	2260	FGFR1	ORPHA:99798
HP:0000698	Conical tooth	128178	EDARADD	ORPHA:99798
HP:0000698	Conical tooth	5083	PAX9	ORPHA:99798
HP:0000698	Conical tooth	7341	SUMO1	ORPHA:99798
HP:0000698	Conical tooth	1896	EDA	ORPHA:99798
HP:0000698	Conical tooth	8313	AXIN2	ORPHA:99798
HP:0000698	Conical tooth	4040	LRP6	ORPHA:99798
HP:0000698	Conical tooth	7039	TGFA	ORPHA:99798
HP:0000698	Conical tooth	7480	WNT10B	ORPHA:99798
HP:0000698	Conical tooth	2248	FGF3	OMIM:610706
HP:0000698	Conical tooth	5566	PRKACA	ORPHA:289
HP:0000698	Conical tooth	5567	PRKACB	ORPHA:289
HP:0000698	Conical tooth	2735	GLI1	ORPHA:289
HP:0000698	Conical tooth	2121	EVC	ORPHA:289
HP:0000698	Conical tooth	51626	DYNC2LI1	ORPHA:289
HP:0000698	Conical tooth	132884	EVC2	ORPHA:289
HP:0000698	Conical tooth	545	ATR	OMIM:614564
HP:0000698	Conical tooth	2263	FGFR2	OMIM:149730
HP:0000698	Conical tooth	80326	WNT10A	OMIM:257980
HP:0000698	Conical tooth	147372	CCBE1	OMIM:235510
HP:0000698	Conical tooth	8517	IKBKG	OMIM:300291
HP:0000698	Conical tooth	145173	B3GLCT	OMIM:261540
HP:0000698	Conical tooth	6768	ST14	OMIM:602400
HP:0000698	Conical tooth	23545	ATP6V0A2	ORPHA:2834
HP:0000698	Conical tooth	526	ATP6V1B2	ORPHA:79499
HP:0000699	Diastema	51412	ACTL6B	OMIM:618470
HP:0000699	Diastema	4810	NHS	OMIM:302350
HP:0000699	Diastema	8242	KDM5C	OMIM:300534
HP:0000699	Diastema	153642	ARSK	OMIM:619698
HP:0000699	Diastema	5566	PRKACA	OMIM:619142
HP:0000699	Diastema	89910	UBE3B	OMIM:244450
HP:0000699	Diastema	51109	RDH11	ORPHA:436245
HP:0000699	Diastema	55690	PACS1	ORPHA:329224
HP:0000699	Diastema	55690	PACS1	OMIM:615009
HP:0000699	Diastema	6938	TCF12	OMIM:619718
HP:0000699	Diastema	55081	IFT57	OMIM:617927
HP:0000699	Diastema	4247	MGAT2	OMIM:212066
HP:0000699	Diastema	3778	KCNMA1	OMIM:618729
HP:0000699	Diastema	23137	SMC5	OMIM:620185
HP:0000699	Diastema	257	ALX3	OMIM:136760
HP:0000699	Diastema	6045	RNF2	OMIM:619460
HP:0000699	Diastema	57459	GATAD2B	ORPHA:363686
HP:0000699	Diastema	29123	ANKRD11	OMIM:148050
HP:0000699	Diastema	29123	ANKRD11	ORPHA:2332
HP:0000699	Diastema	22856	CHSY1	ORPHA:363417
HP:0000699	Diastema	546	ATRX	OMIM:309580
HP:0000699	Diastema	546	ATRX	OMIM:301040
HP:0000699	Diastema	10274	STAG1	ORPHA:502434
HP:0000699	Diastema	1788	DNMT3A	ORPHA:404443
HP:0000699	Diastema	158326	FREM1	OMIM:608980
HP:0000699	Diastema	10060	ABCC9	OMIM:619719
HP:0000699	Diastema	3265	HRAS	ORPHA:79414
HP:0000699	Diastema	10844	TUBGCP2	OMIM:618737
HP:0000699	Diastema	3149	HMGB3	OMIM:300915
HP:0033707	Perioral hyperkeratosis	64065	PERP	OMIM:619208
HP:0033707	Perioral hyperkeratosis	3868	KRT16	OMIM:613000
HP:0033709	Increased sputum production	5265	SERPINA1	OMIM:613490
HP:0007859	Congenital horizontal nystagmus	2898	GRIK2	OMIM:619580
HP:0007850	Retinal vascular proliferation	8517	IKBKG	ORPHA:464
HP:0007850	Retinal vascular proliferation	8517	IKBKG	OMIM:308300
HP:0007850	Retinal vascular proliferation	4763	NF1	ORPHA:97685
HP:0007854	Glaucomatous visual field defect	2202	EFEMP1	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	1545	CYP1B1	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	4653	MYOC	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	136371	ASB10	OMIM:603383
HP:0033711	Pulmonary interstitial thickening	6439	SFTPB	OMIM:265120
HP:0033711	Pulmonary interstitial thickening	659	BMPR2	OMIM:265450
HP:0033711	Pulmonary interstitial thickening	440275	EIF2AK4	ORPHA:199241
HP:0033711	Pulmonary interstitial thickening	1439	CSF2RB	OMIM:614370
HP:0033711	Pulmonary interstitial thickening	10568	SLC34A2	ORPHA:60025
HP:0033711	Pulmonary interstitial thickening	653509	SFTPA1	OMIM:619611
HP:0033711	Pulmonary interstitial thickening	6440	SFTPC	OMIM:610913
HP:0033712	Repeated implantation failure	80726	IQCN	OMIM:620170
HP:0033712	Repeated implantation failure	678	ZFP36L2	OMIM:620154
HP:0033712	Repeated implantation failure	283677	REC114	OMIM:619176
HP:0033715	Hippocampal sclerosis	6900	CNTN2	OMIM:615400
HP:0033716	EEG with frontal epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0033716	EEG with frontal epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0033716	EEG with frontal epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033716	EEG with frontal epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033716	EEG with frontal epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033717	EEG with temporal epileptiform discharges	2782	GNB1	OMIM:616973
HP:0033717	EEG with temporal epileptiform discharges	23229	ARHGEF9	ORPHA:163985
HP:0033717	EEG with temporal epileptiform discharges	2903	GRIN2A	ORPHA:98818
HP:0033718	EEG with central epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033718	EEG with central epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033718	EEG with central epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033718	EEG with central epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	57465	TBC1D24	ORPHA:163727
HP:0033719	EEG with parietal epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033719	EEG with parietal epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0007862	Retinal calcification	63901	FAM111A	OMIM:127000
HP:0007862	Retinal calcification	63901	FAM111A	ORPHA:93325
HP:0007862	Retinal calcification	4041	LRP5	OMIM:259770
HP:0007862	Retinal calcification	5925	RB1	OMIM:180200
HP:0007866	Retinal infarction	59	ACTA2	OMIM:613834
HP:0033720	EEG with occipital epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033720	EEG with occipital epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0033720	EEG with occipital epileptiform discharges	23102	TBC1D2B	OMIM:619323
HP:0033721	EEG with centrotemporal epileptiform discharges	23096	IQSEC2	ORPHA:217377
HP:0033721	EEG with centrotemporal epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	ORPHA:1945
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	OMIM:245570
HP:0033721	EEG with centrotemporal epileptiform discharges	27286	SRPX2	ORPHA:1945
HP:0033721	EEG with centrotemporal epileptiform discharges	2566	GABRG2	ORPHA:1945
HP:0033725	Thin corpus callosum	3476	IGBP1	OMIM:300472
HP:0033725	Thin corpus callosum	3476	IGBP1	ORPHA:52055
HP:0033725	Thin corpus callosum	23141	ANKLE2	OMIM:616681
HP:0033725	Thin corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0033725	Thin corpus callosum	1024	CDK8	OMIM:618748
HP:0033725	Thin corpus callosum	5361	PLXNA1	OMIM:619955
HP:0033725	Thin corpus callosum	10992	SF3B2	OMIM:164210
HP:0033725	Thin corpus callosum	2731	GLDC	OMIM:605899
HP:0033725	Thin corpus callosum	275	AMT	OMIM:605899
HP:0033725	Thin corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0033725	Thin corpus callosum	57560	IFT80	ORPHA:93271
HP:0033725	Thin corpus callosum	57539	WDR35	ORPHA:93271
HP:0033725	Thin corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0033725	Thin corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0033725	Thin corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0033725	Thin corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0033725	Thin corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0033725	Thin corpus callosum	2073	ERCC5	OMIM:616570
HP:0033725	Thin corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0033725	Thin corpus callosum	3020	H3-3A	OMIM:619720
HP:0033725	Thin corpus callosum	1630	DCC	OMIM:617542
HP:0033725	Thin corpus callosum	1630	DCC	ORPHA:238722
HP:0033725	Thin corpus callosum	1630	DCC	OMIM:157600
HP:0033725	Thin corpus callosum	6576	SLC25A1	OMIM:618197
HP:0033725	Thin corpus callosum	4867	NPHP1	ORPHA:220497
HP:0033725	Thin corpus callosum	22858	CILK1	OMIM:612651
HP:0033725	Thin corpus callosum	84197	POMK	OMIM:615249
HP:0033725	Thin corpus callosum	84197	POMK	ORPHA:899
HP:0033725	Thin corpus callosum	84197	POMK	ORPHA:370959
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:280200
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93926
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93924
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93925
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:220386
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:280200
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93926
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93924
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93925
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:220386
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:280200
HP:0033725	Thin corpus callosum	6496	SIX3	OMIM:269160
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93926
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93924
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93925
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:220386
HP:0033725	Thin corpus callosum	6496	SIX3	OMIM:157170
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:280200
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93926
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93924
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93925
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:220386
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:280200
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93926
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93924
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93925
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:220386
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:280200
HP:0033725	Thin corpus callosum	6469	SHH	OMIM:269160
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93926
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93924
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93925
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:220386
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:280200
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93926
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93924
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93925
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:220386
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:280200
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93926
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93924
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93925
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:220386
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:280200
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93926
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93924
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93925
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:220386
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:280200
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:93926
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:93924
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:93925
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:95494
HP:0033725	Thin corpus callosum	2736	GLI2	ORPHA:220386
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:280200
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93926
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93924
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93925
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:220386
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:280200
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93926
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93924
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93925
HP:0033725	Thin corpus callosum	5727	PTCH1	OMIM:610828
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:220386
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:280200
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93926
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93924
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93925
HP:0033725	Thin corpus callosum	50937	CDON	OMIM:614226
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:220386
HP:0033725	Thin corpus callosum	2263	FGFR2	ORPHA:87
HP:0033725	Thin corpus callosum	2263	FGFR2	OMIM:123790
HP:0033725	Thin corpus callosum	2263	FGFR2	OMIM:101200
HP:0033725	Thin corpus callosum	56992	KIF15	ORPHA:261323
HP:0033725	Thin corpus callosum	1020	CDK5	OMIM:616342
HP:0033725	Thin corpus callosum	23522	KAT6B	OMIM:606170
HP:0033725	Thin corpus callosum	23522	KAT6B	ORPHA:85201
HP:0033725	Thin corpus callosum	5173	PDYN	OMIM:610245
HP:0033725	Thin corpus callosum	55681	SCYL2	OMIM:618766
HP:0033725	Thin corpus callosum	2018	EMX2	OMIM:269160
HP:0033725	Thin corpus callosum	546	ATRX	ORPHA:847
HP:0033725	Thin corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0033725	Thin corpus callosum	6597	SMARCA4	OMIM:614609
HP:0033725	Thin corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0033725	Thin corpus callosum	9401	RECQL4	OMIM:218600
HP:0033725	Thin corpus callosum	4524	MTHFR	ORPHA:563612
HP:0033725	Thin corpus callosum	57216	VANGL2	ORPHA:563612
HP:0033725	Thin corpus callosum	55697	VAC14	ORPHA:3472
HP:0033725	Thin corpus callosum	10815	CPLX1	ORPHA:280
HP:0033725	Thin corpus callosum	10815	CPLX1	OMIM:194190
HP:0033725	Thin corpus callosum	7469	NELFA	ORPHA:280
HP:0033725	Thin corpus callosum	1487	CTBP1	ORPHA:280
HP:0033725	Thin corpus callosum	1487	CTBP1	OMIM:194190
HP:0033725	Thin corpus callosum	3954	LETM1	ORPHA:280
HP:0033725	Thin corpus callosum	3954	LETM1	OMIM:194190
HP:0033725	Thin corpus callosum	7468	NSD2	ORPHA:280
HP:0033725	Thin corpus callosum	7468	NSD2	OMIM:194190
HP:0033725	Thin corpus callosum	22872	SEC31A	OMIM:618651
HP:0033725	Thin corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93926
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93924
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93925
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:220386
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:2512
HP:0033725	Thin corpus callosum	51021	MRPS16	OMIM:610498
HP:0033725	Thin corpus callosum	23007	PLCH1	ORPHA:93925
HP:0033725	Thin corpus callosum	6602	SMARCD1	OMIM:618779
HP:0033725	Thin corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0033725	Thin corpus callosum	55623	THUMPD1	OMIM:619989
HP:0033725	Thin corpus callosum	53834	FGFRL1	OMIM:194190
HP:0033725	Thin corpus callosum	2074	ERCC6	OMIM:214150
HP:0033725	Thin corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0033725	Thin corpus callosum	129563	DIS3L2	OMIM:267000
HP:0033725	Thin corpus callosum	1182	CLCN3	OMIM:619512
HP:0033725	Thin corpus callosum	23512	SUZ12	OMIM:618786
HP:0033725	Thin corpus callosum	6608	SMO	OMIM:601707
HP:0033725	Thin corpus callosum	6608	SMO	ORPHA:1553
HP:0033725	Thin corpus callosum	3052	HCCS	OMIM:309801
HP:0033725	Thin corpus callosum	3052	HCCS	ORPHA:2556
HP:0033725	Thin corpus callosum	54539	NDUFB11	OMIM:309801
HP:0033725	Thin corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0033725	Thin corpus callosum	54539	NDUFB11	OMIM:300952
HP:0033725	Thin corpus callosum	5626	PROP1	ORPHA:226307
HP:0033725	Thin corpus callosum	5626	PROP1	ORPHA:95494
HP:0033725	Thin corpus callosum	89884	LHX4	ORPHA:226307
HP:0033725	Thin corpus callosum	89884	LHX4	ORPHA:95494
HP:0033725	Thin corpus callosum	8022	LHX3	ORPHA:226307
HP:0033725	Thin corpus callosum	5449	POU1F1	ORPHA:226307
HP:0033725	Thin corpus callosum	5449	POU1F1	ORPHA:95494
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:226307
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:95494
HP:0033725	Thin corpus callosum	8820	HESX1	OMIM:182230
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:3157
HP:0033725	Thin corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0033725	Thin corpus callosum	5828	PEX2	OMIM:614866
HP:0033725	Thin corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0033725	Thin corpus callosum	2563	GABRD	ORPHA:1606
HP:0033725	Thin corpus callosum	23013	SPEN	ORPHA:1606
HP:0033725	Thin corpus callosum	23013	SPEN	OMIM:619312
HP:0033725	Thin corpus callosum	8510	MMP23B	ORPHA:1606
HP:0033725	Thin corpus callosum	7798	LUZP1	ORPHA:1606
HP:0033725	Thin corpus callosum	6497	SKI	ORPHA:1606
HP:0033725	Thin corpus callosum	10630	PDPN	ORPHA:1606
HP:0033725	Thin corpus callosum	3339	HSPG2	ORPHA:1606
HP:0033725	Thin corpus callosum	10277	UBE4B	ORPHA:1606
HP:0033725	Thin corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0033725	Thin corpus callosum	63976	PRDM16	ORPHA:1606
HP:0033725	Thin corpus callosum	54897	CASZ1	ORPHA:1606
HP:0033725	Thin corpus callosum	6558	SLC12A2	OMIM:619083
HP:0033725	Thin corpus callosum	3170	FOXA2	ORPHA:95494
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:95494
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:990
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:3157
HP:0033725	Thin corpus callosum	83479	DDX59	ORPHA:2919
HP:0033725	Thin corpus callosum	83479	DDX59	OMIM:174300
HP:0033725	Thin corpus callosum	11041	B4GAT1	OMIM:615287
HP:0033725	Thin corpus callosum	11041	B4GAT1	ORPHA:899
HP:0033725	Thin corpus callosum	2271	FH	OMIM:606812
HP:0033725	Thin corpus callosum	57724	EPG5	OMIM:242840
HP:0033725	Thin corpus callosum	57724	EPG5	ORPHA:1493
HP:0033725	Thin corpus callosum	63895	PIEZO2	OMIM:248700
HP:0033725	Thin corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0033725	Thin corpus callosum	2239	GPC4	ORPHA:373
HP:0033725	Thin corpus callosum	2239	GPC4	OMIM:312870
HP:0033725	Thin corpus callosum	2719	GPC3	ORPHA:373
HP:0033725	Thin corpus callosum	2719	GPC3	OMIM:312870
HP:0033725	Thin corpus callosum	197258	FCSK	OMIM:618324
HP:0033725	Thin corpus callosum	10463	SLC30A9	OMIM:617595
HP:0033725	Thin corpus callosum	2678	GGT1	OMIM:231950
HP:0033725	Thin corpus callosum	64919	BCL11B	OMIM:617237
HP:0033725	Thin corpus callosum	11023	VAX1	OMIM:614402
HP:0033725	Thin corpus callosum	51645	PPIL1	OMIM:619301
HP:0033725	Thin corpus callosum	51362	CDC40	OMIM:619302
HP:0033725	Thin corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0033725	Thin corpus callosum	80199	FUZ	ORPHA:1136
HP:0033725	Thin corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0033725	Thin corpus callosum	9990	SLC12A6	OMIM:218000
HP:0033725	Thin corpus callosum	164	AP1G1	OMIM:619548
HP:0033725	Thin corpus callosum	1801	DPH1	ORPHA:459061
HP:0033725	Thin corpus callosum	5888	RAD51	ORPHA:238722
HP:0033725	Thin corpus callosum	10126	DNAL4	ORPHA:238722
HP:0033725	Thin corpus callosum	9423	NTN1	ORPHA:238722
HP:0033725	Thin corpus callosum	56896	DPYSL5	OMIM:619435
HP:0033725	Thin corpus callosum	2879	GPX4	ORPHA:93317
HP:0033725	Thin corpus callosum	5396	PRRX1	OMIM:202650
HP:0033725	Thin corpus callosum	5396	PRRX1	ORPHA:990
HP:0033725	Thin corpus callosum	51807	TUBA8	ORPHA:250972
HP:0033725	Thin corpus callosum	7545	ZIC1	OMIM:616602
HP:0033725	Thin corpus callosum	7545	ZIC1	OMIM:618736
HP:0033725	Thin corpus callosum	7473	WNT3	ORPHA:3301
HP:0033725	Thin corpus callosum	340419	RSPO2	ORPHA:3301
HP:0033725	Thin corpus callosum	23030	KDM4B	OMIM:619320
HP:0033725	Thin corpus callosum	3313	HSPA9	OMIM:616854
HP:0033725	Thin corpus callosum	1806	DPYD	OMIM:274270
HP:0033725	Thin corpus callosum	55215	FANCI	OMIM:609053
HP:0033725	Thin corpus callosum	27185	DISC1	ORPHA:171703
HP:0033725	Thin corpus callosum	8320	EOMES	ORPHA:171703
HP:0033725	Thin corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0033725	Thin corpus callosum	55997	CFC1	OMIM:605376
HP:0033725	Thin corpus callosum	84892	POMGNT2	ORPHA:899
HP:0033725	Thin corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0033725	Thin corpus callosum	1282	COL4A1	ORPHA:899
HP:0033725	Thin corpus callosum	10329	RXYLT1	ORPHA:899
HP:0033725	Thin corpus callosum	63925	ZNF335	OMIM:615095
HP:0033725	Thin corpus callosum	2657	GDF1	OMIM:208530
HP:0033725	Thin corpus callosum	85358	SHANK3	ORPHA:48652
HP:0033725	Thin corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0033725	Thin corpus callosum	6659	SOX4	ORPHA:1465
HP:0033725	Thin corpus callosum	8289	ARID1A	ORPHA:1465
HP:0033725	Thin corpus callosum	5977	DPF2	ORPHA:1465
HP:0033725	Thin corpus callosum	6601	SMARCC2	ORPHA:1465
HP:0033725	Thin corpus callosum	196528	ARID2	ORPHA:1465
HP:0033725	Thin corpus callosum	6664	SOX11	ORPHA:1465
HP:0033725	Thin corpus callosum	5831	PYCR1	OMIM:612940
HP:0033725	Thin corpus callosum	1063	CENPF	OMIM:243605
HP:0033725	Thin corpus callosum	51608	GET4	OMIM:620200
HP:0033725	Thin corpus callosum	1000	CDH2	OMIM:618929
HP:0033725	Thin corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0033725	Thin corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0033725	Thin corpus callosum	2009	EML1	OMIM:600348
HP:0033725	Thin corpus callosum	5395	PMS2	OMIM:619101
HP:0033725	Thin corpus callosum	2313	FLI1	ORPHA:2308
HP:0033725	Thin corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0033725	Thin corpus callosum	60	ACTB	OMIM:243310
HP:0033725	Thin corpus callosum	64840	PORCN	OMIM:305600
HP:0033725	Thin corpus callosum	9791	PTDSS1	OMIM:151050
HP:0033725	Thin corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0033725	Thin corpus callosum	71	ACTG1	OMIM:614583
HP:0033725	Thin corpus callosum	8092	ALX1	ORPHA:306542
HP:0033725	Thin corpus callosum	28962	OSTM1	ORPHA:85179
HP:0033725	Thin corpus callosum	1387	CREBBP	OMIM:180849
HP:0033725	Thin corpus callosum	2033	EP300	OMIM:180849
HP:0033725	Thin corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0033725	Thin corpus callosum	374879	ZNF699	OMIM:619488
HP:0033725	Thin corpus callosum	55640	FLVCR2	OMIM:225790
HP:0033725	Thin corpus callosum	6299	SALL1	ORPHA:857
HP:0033725	Thin corpus callosum	51339	DACT1	ORPHA:857
HP:0033725	Thin corpus callosum	113246	C12orf57	OMIM:218340
HP:0033725	Thin corpus callosum	1759	DNM1	OMIM:620352
HP:0033725	Thin corpus callosum	1376	CPT2	OMIM:608836
HP:0033725	Thin corpus callosum	1376	CPT2	ORPHA:228308
HP:0033725	Thin corpus callosum	84823	LMNB2	OMIM:616540
HP:0033725	Thin corpus callosum	4781	NFIB	OMIM:618286
HP:0033725	Thin corpus callosum	8777	MPDZ	OMIM:615219
HP:0033725	Thin corpus callosum	4292	MLH1	OMIM:276300
HP:0033725	Thin corpus callosum	22995	CEP152	ORPHA:2512
HP:0033725	Thin corpus callosum	163786	SASS6	ORPHA:2512
HP:0033725	Thin corpus callosum	4176	MCM7	ORPHA:2512
HP:0033725	Thin corpus callosum	80254	CEP63	ORPHA:2512
HP:0033725	Thin corpus callosum	29081	METTL5	ORPHA:2512
HP:0033725	Thin corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0033725	Thin corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0033725	Thin corpus callosum	79648	MCPH1	ORPHA:2512
HP:0033725	Thin corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0033725	Thin corpus callosum	1911	PHC1	ORPHA:2512
HP:0033725	Thin corpus callosum	6884	TAF13	ORPHA:2512
HP:0033725	Thin corpus callosum	9662	CEP135	ORPHA:2512
HP:0033725	Thin corpus callosum	55835	CENPJ	ORPHA:2512
HP:0033725	Thin corpus callosum	57082	KNL1	ORPHA:2512
HP:0033725	Thin corpus callosum	1021	CDK6	ORPHA:2512
HP:0033725	Thin corpus callosum	18	ABAT	OMIM:613163
HP:0033725	Thin corpus callosum	8449	DHX16	OMIM:618733
HP:0033725	Thin corpus callosum	128674	PROKR2	ORPHA:3157
HP:0033725	Thin corpus callosum	2615	LRRC32	OMIM:619074
HP:0033725	Thin corpus callosum	10128	LRPPRC	OMIM:220111
HP:0033725	Thin corpus callosum	10785	WDR4	OMIM:618346
HP:0033725	Thin corpus callosum	6938	TCF12	OMIM:615314
HP:0033725	Thin corpus callosum	11198	SUPT16H	OMIM:619480
HP:0033725	Thin corpus callosum	136647	MPLKIP	OMIM:234050
HP:0033725	Thin corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0033725	Thin corpus callosum	10733	PLK4	OMIM:616171
HP:0033725	Thin corpus callosum	1062	CENPE	OMIM:616051
HP:0033725	Thin corpus callosum	4190	MDH1	OMIM:618959
HP:0033725	Thin corpus callosum	139285	AMER1	OMIM:300373
HP:0033725	Thin corpus callosum	7143	TNR	OMIM:619653
HP:0033725	Thin corpus callosum	4123	MAN2C1	OMIM:619775
HP:0033725	Thin corpus callosum	54916	TMEM260	OMIM:617478
HP:0033725	Thin corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0033725	Thin corpus callosum	2068	ERCC2	ORPHA:33364
HP:0033725	Thin corpus callosum	7737	RNF113A	ORPHA:33364
HP:0033725	Thin corpus callosum	6897	TARS1	ORPHA:33364
HP:0033725	Thin corpus callosum	2071	ERCC3	ORPHA:33364
HP:0033725	Thin corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0033725	Thin corpus callosum	64432	MRPS25	OMIM:619025
HP:0033725	Thin corpus callosum	10524	KAT5	OMIM:619103
HP:0033725	Thin corpus callosum	2137	EXTL3	ORPHA:508533
HP:0033725	Thin corpus callosum	7528	YY1	ORPHA:506358
HP:0033725	Thin corpus callosum	29899	GPSM2	OMIM:604213
HP:0033725	Thin corpus callosum	8036	SHOC2	OMIM:607721
HP:0033725	Thin corpus callosum	23394	ADNP	ORPHA:404448
HP:0033725	Thin corpus callosum	55703	POLR3B	OMIM:614381
HP:0033725	Thin corpus callosum	55703	POLR3B	OMIM:607694
HP:0033725	Thin corpus callosum	10617	STAMBP	OMIM:614261
HP:0033725	Thin corpus callosum	26235	FBXL4	OMIM:615471
HP:0033725	Thin corpus callosum	104	ADARB1	OMIM:618862
HP:0033725	Thin corpus callosum	23019	CNOT1	OMIM:618500
HP:0033725	Thin corpus callosum	9853	RUSC2	OMIM:617773
HP:0033725	Thin corpus callosum	55823	VPS11	OMIM:616683
HP:0033725	Thin corpus callosum	55823	VPS11	ORPHA:466934
HP:0033725	Thin corpus callosum	343450	KCNT2	OMIM:617771
HP:0033725	Thin corpus callosum	2775	GNAO1	OMIM:615473
HP:0033725	Thin corpus callosum	2775	GNAO1	ORPHA:1934
HP:0033725	Thin corpus callosum	2775	GNAO1	OMIM:617493
HP:0033725	Thin corpus callosum	6873	TAF2	OMIM:615599
HP:0033725	Thin corpus callosum	6873	TAF2	ORPHA:397951
HP:0033725	Thin corpus callosum	1947	EFNB1	ORPHA:1520
HP:0033725	Thin corpus callosum	1947	EFNB1	OMIM:304110
HP:0033725	Thin corpus callosum	7360	UGP2	OMIM:618744
HP:0033725	Thin corpus callosum	81857	MED25	OMIM:616449
HP:0033725	Thin corpus callosum	81857	MED25	ORPHA:464738
HP:0033725	Thin corpus callosum	84942	WDR73	OMIM:251300
HP:0033725	Thin corpus callosum	10159	ATP6AP2	ORPHA:93952
HP:0033725	Thin corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0033725	Thin corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0033725	Thin corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0033725	Thin corpus callosum	116931	MED12L	OMIM:618872
HP:0033725	Thin corpus callosum	10300	KATNB1	OMIM:616212
HP:0033725	Thin corpus callosum	10300	KATNB1	ORPHA:89844
HP:0033725	Thin corpus callosum	80816	ASXL3	OMIM:615485
HP:0033725	Thin corpus callosum	6536	SLC6A9	OMIM:617301
HP:0033725	Thin corpus callosum	51741	WWOX	OMIM:616211
HP:0033725	Thin corpus callosum	5917	RARS1	ORPHA:438114
HP:0033725	Thin corpus callosum	5917	RARS1	OMIM:616140
HP:0033725	Thin corpus callosum	27245	AHDC1	ORPHA:412069
HP:0033725	Thin corpus callosum	27245	AHDC1	OMIM:615829
HP:0033725	Thin corpus callosum	166378	AFG2A	OMIM:616577
HP:0033725	Thin corpus callosum	375387	NRROS	OMIM:618875
HP:0033725	Thin corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0033725	Thin corpus callosum	10381	TUBB3	OMIM:614039
HP:0033725	Thin corpus callosum	10381	TUBB3	ORPHA:300570
HP:0033725	Thin corpus callosum	10381	TUBB3	OMIM:600638
HP:0033725	Thin corpus callosum	284403	WDR62	OMIM:604317
HP:0033725	Thin corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0033725	Thin corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0033725	Thin corpus callosum	284058	KANSL1	ORPHA:363958
HP:0033725	Thin corpus callosum	284058	KANSL1	OMIM:610443
HP:0033725	Thin corpus callosum	284058	KANSL1	ORPHA:363965
HP:0033725	Thin corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0033725	Thin corpus callosum	347733	TUBB2B	OMIM:610031
HP:0033725	Thin corpus callosum	7343	UBTF	OMIM:617672
HP:0033725	Thin corpus callosum	7343	UBTF	ORPHA:500180
HP:0033725	Thin corpus callosum	6844	VAMP2	OMIM:618760
HP:0033725	Thin corpus callosum	79029	AFG2B	OMIM:619616
HP:0033725	Thin corpus callosum	11232	POLG2	OMIM:618528
HP:0033725	Thin corpus callosum	1183	CLCN4	ORPHA:485350
HP:0033725	Thin corpus callosum	1183	CLCN4	OMIM:300114
HP:0033725	Thin corpus callosum	83480	PUS3	ORPHA:488627
HP:0033725	Thin corpus callosum	6872	TAF1	ORPHA:480907
HP:0033725	Thin corpus callosum	6872	TAF1	OMIM:300966
HP:0033725	Thin corpus callosum	171023	ASXL1	ORPHA:97297
HP:0033725	Thin corpus callosum	171023	ASXL1	OMIM:605039
HP:0033725	Thin corpus callosum	4763	NF1	ORPHA:363700
HP:0033725	Thin corpus callosum	1656	DDX6	OMIM:618653
HP:0033725	Thin corpus callosum	25930	PTPN23	OMIM:618890
HP:0033725	Thin corpus callosum	23327	NEDD4L	OMIM:617201
HP:0033725	Thin corpus callosum	833	CARS1	OMIM:618891
HP:0033725	Thin corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0033725	Thin corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0033725	Thin corpus callosum	54872	PIGG	ORPHA:488635
HP:0033725	Thin corpus callosum	54872	PIGG	OMIM:616917
HP:0033725	Thin corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0033725	Thin corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0033725	Thin corpus callosum	80208	SPG11	ORPHA:2822
HP:0033725	Thin corpus callosum	80208	SPG11	OMIM:604360
HP:0033725	Thin corpus callosum	80208	SPG11	OMIM:616668
HP:0033725	Thin corpus callosum	93627	TBCK	ORPHA:488632
HP:0033725	Thin corpus callosum	93627	TBCK	OMIM:616900
HP:0033725	Thin corpus callosum	79731	NARS2	OMIM:616239
HP:0033725	Thin corpus callosum	6905	TBCE	OMIM:617207
HP:0033725	Thin corpus callosum	6905	TBCE	OMIM:241410
HP:0033725	Thin corpus callosum	6905	TBCE	ORPHA:496756
HP:0033725	Thin corpus callosum	8642	DCHS1	OMIM:601390
HP:0033725	Thin corpus callosum	8642	DCHS1	ORPHA:314679
HP:0033725	Thin corpus callosum	26040	SETBP1	OMIM:269150
HP:0033725	Thin corpus callosum	26040	SETBP1	ORPHA:798
HP:0033725	Thin corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0033725	Thin corpus callosum	1499	CTNNB1	OMIM:615075
HP:0033725	Thin corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0033725	Thin corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0033725	Thin corpus callosum	113612	CYP2U1	OMIM:615030
HP:0033725	Thin corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0033725	Thin corpus callosum	2261	FGFR3	OMIM:616482
HP:0033725	Thin corpus callosum	2261	FGFR3	ORPHA:85165
HP:0033725	Thin corpus callosum	9895	TECPR2	OMIM:615031
HP:0033725	Thin corpus callosum	9895	TECPR2	ORPHA:320385
HP:0033725	Thin corpus callosum	10717	AP4B1	OMIM:614066
HP:0033725	Thin corpus callosum	10717	AP4B1	ORPHA:280763
HP:0033725	Thin corpus callosum	84879	MFSD2A	OMIM:616486
HP:0033725	Thin corpus callosum	91574	MTRFR	OMIM:615035
HP:0033725	Thin corpus callosum	91574	MTRFR	ORPHA:320375
HP:0033725	Thin corpus callosum	91574	MTRFR	ORPHA:254930
HP:0033725	Thin corpus callosum	84504	NKX6-2	ORPHA:527497
HP:0033725	Thin corpus callosum	23126	POGZ	OMIM:616364
HP:0033725	Thin corpus callosum	23126	POGZ	ORPHA:468678
HP:0033725	Thin corpus callosum	55773	TBC1D23	OMIM:617695
HP:0033725	Thin corpus callosum	8558	CDK10	OMIM:617694
HP:0033725	Thin corpus callosum	23259	DDHD2	OMIM:615033
HP:0033725	Thin corpus callosum	23259	DDHD2	ORPHA:320380
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0033725	Thin corpus callosum	7531	YWHAE	ORPHA:217385
HP:0033725	Thin corpus callosum	7531	YWHAE	ORPHA:531
HP:0033725	Thin corpus callosum	3098	HK1	OMIM:618547
HP:0033725	Thin corpus callosum	1859	DYRK1A	ORPHA:464311
HP:0033725	Thin corpus callosum	1859	DYRK1A	ORPHA:268261
HP:0033725	Thin corpus callosum	85365	ALG2	ORPHA:79326
HP:0033725	Thin corpus callosum	26137	ZBTB20	OMIM:259050
HP:0033725	Thin corpus callosum	9533	POLR1C	OMIM:616494
HP:0033725	Thin corpus callosum	1615	DARS1	OMIM:615281
HP:0033725	Thin corpus callosum	3800	KIF5C	OMIM:615282
HP:0033725	Thin corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0033725	Thin corpus callosum	2232	FDXR	ORPHA:543470
HP:0033725	Thin corpus callosum	51098	IFT52	OMIM:617102
HP:0033725	Thin corpus callosum	4849	CNOT3	OMIM:618672
HP:0033725	Thin corpus callosum	6506	SLC1A2	OMIM:617105
HP:0033725	Thin corpus callosum	25973	PARS2	OMIM:618437
HP:0033725	Thin corpus callosum	79971	WLS	OMIM:619648
HP:0033725	Thin corpus callosum	2558	GABRA5	OMIM:618559
HP:0033725	Thin corpus callosum	79633	FAT4	ORPHA:314679
HP:0033725	Thin corpus callosum	79633	FAT4	OMIM:615546
HP:0033725	Thin corpus callosum	7841	MOGS	ORPHA:79330
HP:0033725	Thin corpus callosum	7841	MOGS	OMIM:606056
HP:0033725	Thin corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0033725	Thin corpus callosum	4208	MEF2C	ORPHA:228384
HP:0033725	Thin corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0033725	Thin corpus callosum	3798	KIF5A	OMIM:617235
HP:0033725	Thin corpus callosum	8565	YARS1	OMIM:619418
HP:0033725	Thin corpus callosum	51227	PIGP	OMIM:617599
HP:0033725	Thin corpus callosum	51227	PIGP	ORPHA:1934
HP:0033725	Thin corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0033725	Thin corpus callosum	3785	KCNQ2	OMIM:613720
HP:0033725	Thin corpus callosum	23499	MACF1	OMIM:618325
HP:0033725	Thin corpus callosum	374969	SVBP	OMIM:618569
HP:0033725	Thin corpus callosum	51062	ATL1	OMIM:182600
HP:0033725	Thin corpus callosum	10195	ALG3	ORPHA:79321
HP:0033725	Thin corpus callosum	79087	ALG12	ORPHA:79324
HP:0033725	Thin corpus callosum	79053	ALG8	ORPHA:79325
HP:0033725	Thin corpus callosum	9896	FIG4	OMIM:216340
HP:0033725	Thin corpus callosum	3897	L1CAM	OMIM:304100
HP:0033725	Thin corpus callosum	8295	TRRAP	OMIM:618454
HP:0033725	Thin corpus callosum	9742	IFT140	OMIM:266920
HP:0033725	Thin corpus callosum	7040	TGFB1	OMIM:618213
HP:0033725	Thin corpus callosum	58497	PRUNE1	OMIM:617481
HP:0033725	Thin corpus callosum	8621	CDK13	OMIM:617360
HP:0033725	Thin corpus callosum	5881	RAC3	OMIM:618577
HP:0033725	Thin corpus callosum	27429	HTRA2	OMIM:617248
HP:0033725	Thin corpus callosum	51013	EXOSC1	OMIM:619304
HP:0033725	Thin corpus callosum	55770	EXOC2	OMIM:619306
HP:0033725	Thin corpus callosum	6792	CDKL5	ORPHA:1934
HP:0033725	Thin corpus callosum	3736	KCNA1	ORPHA:1934
HP:0033725	Thin corpus callosum	9091	PIGQ	ORPHA:1934
HP:0033725	Thin corpus callosum	81603	TRIM8	ORPHA:1934
HP:0033725	Thin corpus callosum	2902	GRIN1	ORPHA:1934
HP:0033725	Thin corpus callosum	2902	GRIN1	ORPHA:208447
HP:0033725	Thin corpus callosum	2902	GRIN1	OMIM:617820
HP:0033725	Thin corpus callosum	2902	GRIN1	OMIM:614254
HP:0033725	Thin corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0033725	Thin corpus callosum	150094	SIK1	ORPHA:1934
HP:0033725	Thin corpus callosum	8573	CASK	ORPHA:1934
HP:0033725	Thin corpus callosum	23312	DMXL2	ORPHA:1934
HP:0033725	Thin corpus callosum	2917	GRM7	ORPHA:1934
HP:0033725	Thin corpus callosum	2917	GRM7	OMIM:618922
HP:0033725	Thin corpus callosum	170302	ARX	ORPHA:1934
HP:0033725	Thin corpus callosum	11284	PNKP	ORPHA:1934
HP:0033725	Thin corpus callosum	11284	PNKP	OMIM:613402
HP:0033725	Thin corpus callosum	6326	SCN2A	ORPHA:1934
HP:0033725	Thin corpus callosum	6324	SCN1B	ORPHA:1934
HP:0033725	Thin corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0033725	Thin corpus callosum	4761	NEUROD2	OMIM:618374
HP:0033725	Thin corpus callosum	9361	LONP1	OMIM:600373
HP:0033725	Thin corpus callosum	9361	LONP1	ORPHA:79243
HP:0033725	Thin corpus callosum	22827	PUF60	ORPHA:508498
HP:0033725	Thin corpus callosum	22827	PUF60	ORPHA:508488
HP:0033725	Thin corpus callosum	9488	PIGB	OMIM:618580
HP:0033725	Thin corpus callosum	3912	LAMB1	OMIM:615191
HP:0033725	Thin corpus callosum	84706	GPT2	OMIM:616281
HP:0033725	Thin corpus callosum	84706	GPT2	ORPHA:477673
HP:0033725	Thin corpus callosum	4558	MT-TF	ORPHA:550
HP:0033725	Thin corpus callosum	4572	MT-TQ	ORPHA:550
HP:0033725	Thin corpus callosum	4512	MT-CO1	ORPHA:550
HP:0033725	Thin corpus callosum	4513	MT-CO2	ORPHA:550
HP:0033725	Thin corpus callosum	4514	MT-CO3	ORPHA:550
HP:0033725	Thin corpus callosum	4578	MT-TW	ORPHA:550
HP:0033725	Thin corpus callosum	4540	MT-ND5	ORPHA:550
HP:0033725	Thin corpus callosum	4541	MT-ND6	ORPHA:550
HP:0033725	Thin corpus callosum	4535	MT-ND1	ORPHA:550
HP:0033725	Thin corpus callosum	4538	MT-ND4	ORPHA:550
HP:0033725	Thin corpus callosum	4567	MT-TL1	ORPHA:550
HP:0033725	Thin corpus callosum	4574	MT-TS1	ORPHA:550
HP:0033725	Thin corpus callosum	4575	MT-TS2	ORPHA:550
HP:0033725	Thin corpus callosum	4564	MT-TH	ORPHA:550
HP:0033725	Thin corpus callosum	79876	UBA5	OMIM:617132
HP:0033725	Thin corpus callosum	160418	TMTC3	OMIM:617255
HP:0033725	Thin corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0033725	Thin corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0033725	Thin corpus callosum	2187	FANCB	OMIM:300514
HP:0033725	Thin corpus callosum	10765	KDM5B	OMIM:618109
HP:0033725	Thin corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0033725	Thin corpus callosum	85476	GFM1	OMIM:609060
HP:0033725	Thin corpus callosum	51412	ACTL6B	OMIM:618468
HP:0033725	Thin corpus callosum	51412	ACTL6B	OMIM:618470
HP:0033725	Thin corpus callosum	2671	GFER	ORPHA:330054
HP:0033725	Thin corpus callosum	1605	DAG1	ORPHA:370997
HP:0033725	Thin corpus callosum	1605	DAG1	OMIM:616538
HP:0033725	Thin corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0033725	Thin corpus callosum	11160	ERLIN2	OMIM:611225
HP:0033725	Thin corpus callosum	56945	MRPS22	OMIM:611719
HP:0033725	Thin corpus callosum	128869	PIGU	OMIM:618590
HP:0033725	Thin corpus callosum	5631	PRPS1	ORPHA:423479
HP:0033725	Thin corpus callosum	7707	ZNF148	OMIM:617260
HP:0033725	Thin corpus callosum	2972	BRF1	ORPHA:444072
HP:0033725	Thin corpus callosum	1349	COX7B	OMIM:300887
HP:0033725	Thin corpus callosum	5515	PPP2CA	OMIM:618354
HP:0033725	Thin corpus callosum	55610	VPS50	OMIM:619685
HP:0033725	Thin corpus callosum	4695	NDUFA2	OMIM:618235
HP:0033725	Thin corpus callosum	6651	SON	OMIM:617140
HP:0033725	Thin corpus callosum	6651	SON	ORPHA:500150
HP:0033725	Thin corpus callosum	5649	RELN	ORPHA:89844
HP:0033725	Thin corpus callosum	54820	NDE1	ORPHA:89844
HP:0033725	Thin corpus callosum	55262	TRAPPC14	OMIM:618351
HP:0033725	Thin corpus callosum	1654	DDX3X	ORPHA:457260
HP:0033725	Thin corpus callosum	1654	DDX3X	OMIM:300958
HP:0033725	Thin corpus callosum	5660	PSAP	OMIM:611721
HP:0033725	Thin corpus callosum	26128	KIFBP	ORPHA:66629
HP:0033725	Thin corpus callosum	26128	KIFBP	OMIM:609460
HP:0033725	Thin corpus callosum	7846	TUBA1A	OMIM:611603
HP:0033725	Thin corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0033725	Thin corpus callosum	9179	AP4M1	OMIM:612936
HP:0033725	Thin corpus callosum	9179	AP4M1	ORPHA:280763
HP:0033725	Thin corpus callosum	29954	POMT2	OMIM:236670
HP:0033725	Thin corpus callosum	29954	POMT2	ORPHA:370968
HP:0033725	Thin corpus callosum	29954	POMT2	OMIM:613156
HP:0033725	Thin corpus callosum	9215	LARGE1	OMIM:236670
HP:0033725	Thin corpus callosum	9215	LARGE1	ORPHA:370968
HP:0033725	Thin corpus callosum	79147	FKRP	OMIM:236670
HP:0033725	Thin corpus callosum	79147	FKRP	ORPHA:370968
HP:0033725	Thin corpus callosum	10585	POMT1	OMIM:236670
HP:0033725	Thin corpus callosum	10585	POMT1	ORPHA:370968
HP:0033725	Thin corpus callosum	10585	POMT1	OMIM:613155
HP:0033725	Thin corpus callosum	6904	TBCD	ORPHA:496641
HP:0033725	Thin corpus callosum	6904	TBCD	OMIM:617193
HP:0033725	Thin corpus callosum	29925	GMPPB	ORPHA:370968
HP:0033725	Thin corpus callosum	7337	UBE3A	ORPHA:98794
HP:0033725	Thin corpus callosum	4948	OCA2	ORPHA:98794
HP:0033725	Thin corpus callosum	473	RERE	ORPHA:494344
HP:0033725	Thin corpus callosum	473	RERE	OMIM:616975
HP:0033725	Thin corpus callosum	4784	NFIX	OMIM:602535
HP:0033725	Thin corpus callosum	4784	NFIX	ORPHA:420179
HP:0033725	Thin corpus callosum	4784	NFIX	OMIM:614753
HP:0033725	Thin corpus callosum	22796	COG2	OMIM:617395
HP:0033725	Thin corpus callosum	22796	COG2	ORPHA:435934
HP:0033725	Thin corpus callosum	2560	GABRB1	OMIM:617153
HP:0033725	Thin corpus callosum	10588	MTHFS	OMIM:618367
HP:0033725	Thin corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0033725	Thin corpus callosum	8120	AP3B2	OMIM:617276
HP:0033725	Thin corpus callosum	7965	AIMP2	OMIM:618006
HP:0033725	Thin corpus callosum	201163	FLCN	OMIM:610883
HP:0033725	Thin corpus callosum	29920	PYCR2	ORPHA:481152
HP:0033725	Thin corpus callosum	29920	PYCR2	OMIM:616420
HP:0033725	Thin corpus callosum	7703	PCGF2	OMIM:618371
HP:0033725	Thin corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0033725	Thin corpus callosum	29968	PSAT1	ORPHA:284417
HP:0033725	Thin corpus callosum	191	AHCY	ORPHA:88618
HP:0033725	Thin corpus callosum	51324	SPG21	ORPHA:101001
HP:0033725	Thin corpus callosum	7161	TP73	OMIM:619466
HP:0033725	Thin corpus callosum	11342	RNF13	OMIM:618379
HP:0033725	Thin corpus callosum	11342	RNF13	ORPHA:544503
HP:0033725	Thin corpus callosum	9758	FRMPD4	OMIM:300983
HP:0033725	Thin corpus callosum	5277	PIGA	OMIM:300868
HP:0033725	Thin corpus callosum	1822	ATN1	OMIM:618494
HP:0033725	Thin corpus callosum	523	ATP6V1A	OMIM:618012
HP:0033725	Thin corpus callosum	523	ATP6V1A	OMIM:617403
HP:0033725	Thin corpus callosum	4990	SIX6	OMIM:206900
HP:0033725	Thin corpus callosum	6657	SOX2	OMIM:206900
HP:0033725	Thin corpus callosum	8883	NAE1	OMIM:620210
HP:0033725	Thin corpus callosum	80185	TTI2	ORPHA:391307
HP:0033725	Thin corpus callosum	50801	KCNK4	OMIM:618381
HP:0033725	Thin corpus callosum	11340	EXOSC8	OMIM:616081
HP:0033725	Thin corpus callosum	84265	POLR3GL	OMIM:619234
HP:0033725	Thin corpus callosum	2892	GRIA3	ORPHA:364028
HP:0033725	Thin corpus callosum	348180	CTU2	OMIM:618142
HP:0033725	Thin corpus callosum	26005	C2CD3	ORPHA:434179
HP:0033725	Thin corpus callosum	26005	C2CD3	OMIM:615948
HP:0033725	Thin corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0033725	Thin corpus callosum	51091	SEPSECS	OMIM:613811
HP:0033725	Thin corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0033725	Thin corpus callosum	51360	MBTPS2	OMIM:308205
HP:0033725	Thin corpus callosum	2571	GAD1	OMIM:619124
HP:0033725	Thin corpus callosum	2222	FDFT1	OMIM:618156
HP:0033725	Thin corpus callosum	203068	TUBB	OMIM:156610
HP:0033725	Thin corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0033725	Thin corpus callosum	90522	YIF1B	OMIM:619125
HP:0033725	Thin corpus callosum	374354	NHLRC2	OMIM:618278
HP:0033725	Thin corpus callosum	8239	USP9X	OMIM:300968
HP:0033725	Thin corpus callosum	8239	USP9X	ORPHA:480880
HP:0033725	Thin corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0033725	Thin corpus callosum	6472	SHMT2	OMIM:619121
HP:0033725	Thin corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0033725	Thin corpus callosum	9373	PLAA	ORPHA:521426
HP:0033725	Thin corpus callosum	9373	PLAA	OMIM:617527
HP:0033725	Thin corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0033725	Thin corpus callosum	8911	CACNA1I	OMIM:620114
HP:0033725	Thin corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0033725	Thin corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0033725	Thin corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0033725	Thin corpus callosum	3090	HIC1	ORPHA:531
HP:0033725	Thin corpus callosum	6748	SSR4	ORPHA:370927
HP:0033725	Thin corpus callosum	6748	SSR4	OMIM:300934
HP:0033725	Thin corpus callosum	2177	FANCD2	OMIM:227646
HP:0033725	Thin corpus callosum	2629	GBA1	ORPHA:2072
HP:0033725	Thin corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0033725	Thin corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0033725	Thin corpus callosum	54187	NANS	OMIM:610442
HP:0033725	Thin corpus callosum	55005	RMND1	OMIM:614922
HP:0033725	Thin corpus callosum	124454	EARS2	OMIM:614924
HP:0033725	Thin corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0033725	Thin corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0033725	Thin corpus callosum	10079	ATP9A	OMIM:620242
HP:0033725	Thin corpus callosum	23299	BICD2	OMIM:618291
HP:0033725	Thin corpus callosum	64802	NMNAT1	OMIM:619260
HP:0033725	Thin corpus callosum	129285	PPP1R21	OMIM:619383
HP:0033725	Thin corpus callosum	114034	TOE1	ORPHA:284339
HP:0033725	Thin corpus callosum	114034	TOE1	OMIM:614969
HP:0033725	Thin corpus callosum	9562	MINPP1	ORPHA:284339
HP:0033725	Thin corpus callosum	2316	FLNA	ORPHA:555877
HP:0033725	Thin corpus callosum	2316	FLNA	OMIM:300049
HP:0033725	Thin corpus callosum	84842	HPDL	OMIM:619026
HP:0033725	Thin corpus callosum	1496	CTNNA2	OMIM:618174
HP:0033725	Thin corpus callosum	221927	BRAT1	OMIM:618056
HP:0033725	Thin corpus callosum	27445	PCLO	OMIM:608027
HP:0033725	Thin corpus callosum	3480	IGF1R	OMIM:270450
HP:0033725	Thin corpus callosum	10682	EBP	ORPHA:401973
HP:0033725	Thin corpus callosum	6095	RORA	OMIM:618060
HP:0033725	Thin corpus callosum	11113	CIT	OMIM:617090
HP:0033725	Thin corpus callosum	8450	CUL4B	OMIM:300354
HP:0033725	Thin corpus callosum	9131	AIFM1	OMIM:300232
HP:0033725	Thin corpus callosum	9131	AIFM1	ORPHA:83629
HP:0033725	Thin corpus callosum	6535	SLC6A8	OMIM:300352
HP:0033725	Thin corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0033725	Thin corpus callosum	7355	SLC35A2	OMIM:300896
HP:0033725	Thin corpus callosum	347734	SLC35B2	OMIM:620269
HP:0033725	Thin corpus callosum	781	CACNA2D1	OMIM:620149
HP:0033725	Thin corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0033725	Thin corpus callosum	132158	GLYCTK	ORPHA:941
HP:0033725	Thin corpus callosum	9839	ZEB2	OMIM:235730
HP:0033725	Thin corpus callosum	9839	ZEB2	ORPHA:261552
HP:0033725	Thin corpus callosum	9839	ZEB2	ORPHA:261537
HP:0033725	Thin corpus callosum	57176	VARS2	OMIM:615917
HP:0033725	Thin corpus callosum	80222	TARS2	OMIM:615918
HP:0033725	Thin corpus callosum	54209	TREM2	OMIM:618193
HP:0033725	Thin corpus callosum	200205	IBA57	ORPHA:468661
HP:0033725	Thin corpus callosum	200205	IBA57	OMIM:615330
HP:0033725	Thin corpus callosum	80232	WDR26	ORPHA:513456
HP:0033725	Thin corpus callosum	80232	WDR26	OMIM:617616
HP:0033725	Thin corpus callosum	89910	UBE3B	OMIM:244450
HP:0033725	Thin corpus callosum	80055	PGAP1	OMIM:615802
HP:0033725	Thin corpus callosum	9915	ARNT2	OMIM:615926
HP:0033725	Thin corpus callosum	57582	KCNT1	OMIM:614959
HP:0033725	Thin corpus callosum	55780	ERMARD	ORPHA:75857
HP:0033725	Thin corpus callosum	10978	CLP1	OMIM:615803
HP:0033725	Thin corpus callosum	26153	KIF26A	OMIM:620156
HP:0033725	Thin corpus callosum	271	AMPD2	OMIM:615809
HP:0033725	Thin corpus callosum	271	AMPD2	OMIM:615686
HP:0033725	Thin corpus callosum	25839	COG4	ORPHA:263501
HP:0033725	Thin corpus callosum	25839	COG4	OMIM:613489
HP:0033725	Thin corpus callosum	57492	ARID1B	OMIM:135900
HP:0033725	Thin corpus callosum	5119	CHMP1A	OMIM:614961
HP:0033725	Thin corpus callosum	55157	DARS2	ORPHA:137898
HP:0033725	Thin corpus callosum	10000	AKT3	OMIM:615937
HP:0033725	Thin corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0033725	Thin corpus callosum	11212	PLPBP	ORPHA:3006
HP:0033725	Thin corpus callosum	57531	HACE1	ORPHA:464282
HP:0033725	Thin corpus callosum	57531	HACE1	OMIM:616756
HP:0033725	Thin corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0033725	Thin corpus callosum	80856	LNPK	OMIM:618090
HP:0033725	Thin corpus callosum	26278	SACS	ORPHA:98
HP:0033725	Thin corpus callosum	1641	DCX	ORPHA:2148
HP:0033725	Thin corpus callosum	4338	MOCS2	OMIM:252160
HP:0033725	Thin corpus callosum	2752	GLUL	OMIM:610015
HP:0033725	Thin corpus callosum	25942	SIN3A	OMIM:613406
HP:0033725	Thin corpus callosum	9907	AP5Z1	OMIM:613647
HP:0033725	Thin corpus callosum	9907	AP5Z1	ORPHA:306511
HP:0033725	Thin corpus callosum	54496	PRMT7	ORPHA:464288
HP:0033725	Thin corpus callosum	23265	EXOC7	OMIM:619072
HP:0033725	Thin corpus callosum	9653	HS2ST1	OMIM:619194
HP:0033725	Thin corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0033725	Thin corpus callosum	7025	NR2F1	ORPHA:401777
HP:0033725	Thin corpus callosum	1267	CNP	OMIM:619071
HP:0033725	Thin corpus callosum	149371	EXOC8	OMIM:619076
HP:0033725	Thin corpus callosum	57498	KIDINS220	ORPHA:521390
HP:0033725	Thin corpus callosum	56006	SMG9	OMIM:616920
HP:0033725	Thin corpus callosum	27286	SRPX2	ORPHA:163721
HP:0033725	Thin corpus callosum	285175	UNC80	OMIM:616801
HP:0033725	Thin corpus callosum	285175	UNC80	ORPHA:371364
HP:0033725	Thin corpus callosum	79753	SNIP1	OMIM:614501
HP:0033725	Thin corpus callosum	54499	TMCO1	OMIM:213980
HP:0033725	Thin corpus callosum	54499	TMCO1	ORPHA:1394
HP:0033725	Thin corpus callosum	11128	POLR3A	ORPHA:447896
HP:0033725	Thin corpus callosum	11128	POLR3A	OMIM:607694
HP:0033725	Thin corpus callosum	10236	HNRNPR	OMIM:620073
HP:0033725	Thin corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0033725	Thin corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0033725	Thin corpus callosum	79813	EHMT1	ORPHA:261652
HP:0033725	Thin corpus callosum	58508	KMT2C	ORPHA:261652
HP:0033725	Thin corpus callosum	4094	MAF	ORPHA:1272
HP:0033725	Thin corpus callosum	5591	PRKDC	OMIM:615966
HP:0033725	Thin corpus callosum	6605	SMARCE1	OMIM:616938
HP:0033725	Thin corpus callosum	51244	CCDC174	OMIM:616816
HP:0033725	Thin corpus callosum	51322	WAC	ORPHA:284169
HP:0033725	Thin corpus callosum	51322	WAC	OMIM:616708
HP:0033725	Thin corpus callosum	4677	NARS1	OMIM:619091
HP:0033725	Thin corpus callosum	10735	STAG2	ORPHA:521258
HP:0033725	Thin corpus callosum	729920	CRPPA	OMIM:614643
HP:0033725	Thin corpus callosum	55275	VPS53	OMIM:615851
HP:0033725	Thin corpus callosum	9928	KIF14	OMIM:617914
HP:0033725	Thin corpus callosum	200403	VWA3B	OMIM:616948
HP:0033725	Thin corpus callosum	85021	REPS1	OMIM:617916
HP:0033725	Thin corpus callosum	85440	DOCK7	OMIM:615859
HP:0033725	Thin corpus callosum	85440	DOCK7	ORPHA:411986
HP:0033725	Thin corpus callosum	6509	SLC1A4	ORPHA:447997
HP:0033725	Thin corpus callosum	6509	SLC1A4	OMIM:616657
HP:0033725	Thin corpus callosum	9276	COPB2	OMIM:617800
HP:0033725	Thin corpus callosum	7407	VARS1	OMIM:617802
HP:0033725	Thin corpus callosum	57165	GJC2	OMIM:613206
HP:0033725	Thin corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0033725	Thin corpus callosum	25939	SAMHD1	ORPHA:51
HP:0033725	Thin corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0033725	Thin corpus callosum	103	ADAR	ORPHA:51
HP:0033725	Thin corpus callosum	11277	TREX1	ORPHA:51
HP:0033725	Thin corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0033725	Thin corpus callosum	134353	LSM11	ORPHA:51
HP:0033725	Thin corpus callosum	64135	IFIH1	ORPHA:51
HP:0033725	Thin corpus callosum	7490	WT1	OMIM:106210
HP:0033725	Thin corpus callosum	5080	PAX6	OMIM:106210
HP:0033725	Thin corpus callosum	10075	HUWE1	OMIM:309590
HP:0033725	Thin corpus callosum	91949	COG7	OMIM:608779
HP:0033725	Thin corpus callosum	8243	SMC1A	OMIM:301044
HP:0033725	Thin corpus callosum	60529	ALX4	OMIM:613451
HP:0033725	Thin corpus callosum	124997	WDR81	OMIM:610185
HP:0033725	Thin corpus callosum	2290	FOXG1	OMIM:613454
HP:0033725	Thin corpus callosum	23028	KDM1A	OMIM:616728
HP:0033725	Thin corpus callosum	23028	KDM1A	ORPHA:477993
HP:0033725	Thin corpus callosum	6328	SCN3A	OMIM:617938
HP:0033725	Thin corpus callosum	8050	PDHX	ORPHA:255182
HP:0033725	Thin corpus callosum	55593	OTUD5	OMIM:301056
HP:0033725	Thin corpus callosum	6658	SOX3	ORPHA:67045
HP:0033725	Thin corpus callosum	79587	CARS2	ORPHA:477774
HP:0033725	Thin corpus callosum	79587	CARS2	OMIM:616672
HP:0033725	Thin corpus callosum	5859	QARS1	OMIM:615760
HP:0033725	Thin corpus callosum	113179	ADAT3	ORPHA:363528
HP:0033725	Thin corpus callosum	80347	COASY	OMIM:615643
HP:0033725	Thin corpus callosum	23291	FBXW11	OMIM:618914
HP:0033725	Thin corpus callosum	7280	TUBB2A	OMIM:615763
HP:0033725	Thin corpus callosum	998	CDC42	OMIM:616737
HP:0033725	Thin corpus callosum	998	CDC42	ORPHA:487796
HP:0033725	Thin corpus callosum	50	ACO2	OMIM:614559
HP:0033725	Thin corpus callosum	3097	HIVEP2	OMIM:616977
HP:0033725	Thin corpus callosum	10982	MAPRE2	OMIM:616734
HP:0033725	Thin corpus callosum	51218	GLRX5	OMIM:616859
HP:0033725	Thin corpus callosum	5053	PAH	ORPHA:2209
HP:0033725	Thin corpus callosum	4131	MAP1B	OMIM:618918
HP:0033725	Thin corpus callosum	5925	RB1	ORPHA:1587
HP:0033725	Thin corpus callosum	23511	NUP188	OMIM:618804
HP:0033725	Thin corpus callosum	6709	SPTAN1	OMIM:613477
HP:0033725	Thin corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0033725	Thin corpus callosum	3796	KIF2A	OMIM:615411
HP:0033725	Thin corpus callosum	2058	EPRS1	OMIM:617951
HP:0033725	Thin corpus callosum	27315	PGAP2	OMIM:614207
HP:0033725	Thin corpus callosum	80746	TSEN2	OMIM:612389
HP:0033725	Thin corpus callosum	80746	TSEN2	ORPHA:2524
HP:0033725	Thin corpus callosum	5160	PDHA1	ORPHA:79243
HP:0033725	Thin corpus callosum	57511	COG6	OMIM:614576
HP:0033725	Thin corpus callosum	54664	TMEM106B	OMIM:617964
HP:0033725	Thin corpus callosum	1729	DIAPH1	OMIM:616632
HP:0033725	Thin corpus callosum	2475	MTOR	OMIM:616638
HP:0033725	Thin corpus callosum	9419	CRIPT	OMIM:615789
HP:0033725	Thin corpus callosum	26227	PHGDH	ORPHA:79351
HP:0033725	Thin corpus callosum	55644	OSGEP	OMIM:617729
HP:0033725	Thin corpus callosum	7874	USP7	ORPHA:500055
HP:0033725	Thin corpus callosum	340075	ARSI	ORPHA:401815
HP:0033725	Thin corpus callosum	6812	STXBP1	OMIM:612164
HP:0033725	Thin corpus callosum	4337	MOCS1	OMIM:252150
HP:0033725	Thin corpus callosum	29957	SLC25A24	OMIM:612289
HP:0033725	Thin corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0033725	Thin corpus callosum	56270	WDR45B	OMIM:617977
HP:0033725	Thin corpus callosum	259232	NALCN	ORPHA:371364
HP:0033725	Thin corpus callosum	25914	RTTN	ORPHA:468631
HP:0033725	Thin corpus callosum	23556	PIGN	ORPHA:280633
HP:0033725	Thin corpus callosum	5162	PDHB	ORPHA:255138
HP:0033725	Thin corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0033725	Thin corpus callosum	51124	IER3IP1	OMIM:614231
HP:0033725	Thin corpus callosum	283989	TSEN54	ORPHA:2524
HP:0033725	Thin corpus callosum	116461	TSEN15	ORPHA:2524
HP:0033725	Thin corpus callosum	79042	TSEN34	ORPHA:2524
HP:0033725	Thin corpus callosum	2893	GRIA4	OMIM:617864
HP:0033725	Thin corpus callosum	55704	CCDC88A	OMIM:617507
HP:0033725	Thin corpus callosum	54676	GTPBP2	OMIM:617988
HP:0033725	Thin corpus callosum	5296	PIK3R2	OMIM:603387
HP:0033725	Thin corpus callosum	259266	ASPM	OMIM:608716
HP:0033725	Thin corpus callosum	11154	AP4S1	ORPHA:280763
HP:0033725	Thin corpus callosum	23431	AP4E1	ORPHA:280763
HP:0033725	Thin corpus callosum	4841	NONO	ORPHA:466791
HP:0033725	Thin corpus callosum	4047	LSS	OMIM:618840
HP:0033725	Thin corpus callosum	5879	RAC1	OMIM:617751
HP:0033725	Thin corpus callosum	5879	RAC1	ORPHA:500159
HP:0033725	Thin corpus callosum	440	ASNS	OMIM:615574
HP:0033725	Thin corpus callosum	5455	POU3F3	OMIM:618604
HP:0033725	Thin corpus callosum	133686	NADK2	ORPHA:431361
HP:0033725	Thin corpus callosum	738	VPS51	OMIM:618606
HP:0033725	Thin corpus callosum	5116	PCNT	ORPHA:2637
HP:0033725	Thin corpus callosum	2806	GOT2	OMIM:618721
HP:0033725	Thin corpus callosum	5430	POLR2A	OMIM:618603
HP:0033725	Thin corpus callosum	51663	ZFR	ORPHA:401840
HP:0033725	Thin corpus callosum	1468	SLC25A10	OMIM:618972
HP:0033725	Thin corpus callosum	1968	EIF2S3	OMIM:300148
HP:0033725	Thin corpus callosum	5307	PITX1	OMIM:119800
HP:0033725	Thin corpus callosum	51075	TMX2	OMIM:618730
HP:0033725	Thin corpus callosum	8884	SLC5A6	OMIM:618973
HP:0033725	Thin corpus callosum	7305	TYROBP	OMIM:221770
HP:0033725	Thin corpus callosum	55331	ACER3	OMIM:617762
HP:0033725	Thin corpus callosum	22978	NT5C2	OMIM:613162
HP:0033725	Thin corpus callosum	4281	MID1	ORPHA:2745
HP:0033725	Thin corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0033725	Thin corpus callosum	4858	NOVA2	OMIM:618859
HP:0033725	Thin corpus callosum	84148	KAT8	OMIM:618974
HP:0033725	Thin corpus callosum	55753	OGDHL	OMIM:619701
HP:0033725	Thin corpus callosum	58499	ZNF462	OMIM:618619
HP:0033725	Thin corpus callosum	79600	TCTN1	ORPHA:475
HP:0033725	Thin corpus callosum	79600	TCTN1	ORPHA:564
HP:0033725	Thin corpus callosum	79848	CSPP1	ORPHA:475
HP:0033725	Thin corpus callosum	79848	CSPP1	ORPHA:564
HP:0033725	Thin corpus callosum	51684	SUFU	ORPHA:475
HP:0033725	Thin corpus callosum	54806	AHI1	ORPHA:475
HP:0033725	Thin corpus callosum	153241	CEP120	ORPHA:475
HP:0033725	Thin corpus callosum	65250	CPLANE1	ORPHA:475
HP:0033725	Thin corpus callosum	65250	CPLANE1	ORPHA:2754
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:475
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:564
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:1454
HP:0033725	Thin corpus callosum	200894	ARL13B	ORPHA:475
HP:0033725	Thin corpus callosum	9731	CEP104	ORPHA:475
HP:0033725	Thin corpus callosum	219844	HYLS1	ORPHA:475
HP:0033725	Thin corpus callosum	23247	KATNIP	ORPHA:475
HP:0033725	Thin corpus callosum	219854	TMEM218	ORPHA:475
HP:0033725	Thin corpus callosum	54903	MKS1	ORPHA:475
HP:0033725	Thin corpus callosum	54903	MKS1	ORPHA:564
HP:0033725	Thin corpus callosum	95681	CEP41	ORPHA:475
HP:0033725	Thin corpus callosum	9786	KIAA0586	ORPHA:475
HP:0033725	Thin corpus callosum	56623	INPP5E	ORPHA:475
HP:0033725	Thin corpus callosum	56623	INPP5E	ORPHA:1454
HP:0033725	Thin corpus callosum	79867	TCTN2	ORPHA:475
HP:0033725	Thin corpus callosum	79867	TCTN2	ORPHA:564
HP:0033725	Thin corpus callosum	80776	B9D2	ORPHA:475
HP:0033725	Thin corpus callosum	80776	B9D2	ORPHA:564
HP:0033725	Thin corpus callosum	10464	PIBF1	ORPHA:475
HP:0033725	Thin corpus callosum	80210	ARMC9	ORPHA:475
HP:0033725	Thin corpus callosum	23116	TOGARAM1	ORPHA:475
HP:0033725	Thin corpus callosum	25776	CBY1	ORPHA:475
HP:0033725	Thin corpus callosum	27077	B9D1	ORPHA:475
HP:0033725	Thin corpus callosum	27077	B9D1	ORPHA:564
HP:0033725	Thin corpus callosum	403	ARL3	ORPHA:475
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:475
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:2318
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:564
HP:0033725	Thin corpus callosum	1718	DHCR24	OMIM:602398
HP:0033725	Thin corpus callosum	3981	LIG4	ORPHA:235
HP:0033725	Thin corpus callosum	54888	NSUN2	ORPHA:235
HP:0033725	Thin corpus callosum	2218	FKTN	ORPHA:272
HP:0033725	Thin corpus callosum	27238	GPKOW	ORPHA:2570
HP:0033725	Thin corpus callosum	6197	RPS6KA3	ORPHA:192
HP:0033725	Thin corpus callosum	3265	HRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	3845	KRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	4893	NRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	64327	LMBR1	ORPHA:2378
HP:0033725	Thin corpus callosum	673	BRAF	OMIM:115150
HP:0033725	Thin corpus callosum	95	ACY1	ORPHA:137754
HP:0033725	Thin corpus callosum	145173	B3GLCT	ORPHA:709
HP:0033725	Thin corpus callosum	55624	POMGNT1	OMIM:253280
HP:0033725	Thin corpus callosum	6925	TCF4	ORPHA:2896
HP:0033725	Thin corpus callosum	64324	NSD1	ORPHA:821
HP:0033725	Thin corpus callosum	29072	SETD2	ORPHA:821
HP:0033725	Thin corpus callosum	10297	APC2	ORPHA:821
HP:0033725	Thin corpus callosum	154881	KCTD7	ORPHA:263516
HP:0033725	Thin corpus callosum	4036	LRP2	OMIM:222448
HP:0033725	Thin corpus callosum	4036	LRP2	ORPHA:2143
HP:0033725	Thin corpus callosum	2737	GLI3	ORPHA:36
HP:0033725	Thin corpus callosum	374654	KIF7	ORPHA:36
HP:0033725	Thin corpus callosum	374654	KIF7	OMIM:200990
HP:0033725	Thin corpus callosum	374654	KIF7	ORPHA:2754
HP:0033725	Thin corpus callosum	51633	OTUD6B	ORPHA:505237
HP:0033725	Thin corpus callosum	4774	NFIA	ORPHA:401986
HP:0033725	Thin corpus callosum	26275	HIBCH	ORPHA:88639
HP:0033725	Thin corpus callosum	54968	TMEM70	ORPHA:1194
HP:0033725	Thin corpus callosum	51715	RAB23	OMIM:201000
HP:0033725	Thin corpus callosum	84162	BLTP1	OMIM:617822
HP:0033725	Thin corpus callosum	2314	FLII	ORPHA:819
HP:0033725	Thin corpus callosum	23096	IQSEC2	ORPHA:819
HP:0033725	Thin corpus callosum	10743	RAI1	ORPHA:819
HP:0033725	Thin corpus callosum	10522	DEAF1	ORPHA:819
HP:0033725	Thin corpus callosum	1717	DHCR7	ORPHA:818
HP:0033725	Thin corpus callosum	10472	ZBTB18	ORPHA:36367
HP:0033725	Thin corpus callosum	51114	ZDHHC9	ORPHA:776
HP:0033725	Thin corpus callosum	65109	UPF3B	ORPHA:776
HP:0033725	Thin corpus callosum	9968	MED12	ORPHA:776
HP:0033725	Thin corpus callosum	9968	MED12	ORPHA:93932
HP:0033725	Thin corpus callosum	5189	PEX1	OMIM:214100
HP:0033725	Thin corpus callosum	55691	FRMD4A	OMIM:616819
HP:0033725	Thin corpus callosum	10479	SLC9A6	ORPHA:85278
HP:0033725	Thin corpus callosum	10225	CD96	ORPHA:1308
HP:0033725	Thin corpus callosum	100151683	RNU4ATAC	ORPHA:1824
HP:0033725	Thin corpus callosum	79583	TMEM231	ORPHA:2318
HP:0033725	Thin corpus callosum	79583	TMEM231	ORPHA:564
HP:0033725	Thin corpus callosum	51524	TMEM138	ORPHA:2318
HP:0033725	Thin corpus callosum	23090	ZNF423	ORPHA:2318
HP:0033725	Thin corpus callosum	80184	CEP290	ORPHA:2318
HP:0033725	Thin corpus callosum	80184	CEP290	ORPHA:564
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:2318
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:2754
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:564
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:2318
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:564
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:1454
HP:0033725	Thin corpus callosum	22930	RAB3GAP1	ORPHA:2510
HP:0033725	Thin corpus callosum	25782	RAB3GAP2	ORPHA:2510
HP:0033725	Thin corpus callosum	22931	RAB18	ORPHA:2510
HP:0033725	Thin corpus callosum	128637	TBC1D20	ORPHA:2510
HP:0033725	Thin corpus callosum	10210	TOPORS	ORPHA:2754
HP:0033725	Thin corpus callosum	9851	KIAA0753	ORPHA:2754
HP:0033725	Thin corpus callosum	26123	TCTN3	ORPHA:2754
HP:0033725	Thin corpus callosum	26123	TCTN3	ORPHA:564
HP:0033725	Thin corpus callosum	5147	PDE6D	ORPHA:2754
HP:0033725	Thin corpus callosum	8481	OFD1	ORPHA:2754
HP:0033725	Thin corpus callosum	317662	FAM149B1	ORPHA:2754
HP:0033725	Thin corpus callosum	8260	NAA10	ORPHA:568
HP:0033725	Thin corpus callosum	54880	BCOR	ORPHA:568
HP:0033725	Thin corpus callosum	2260	FGFR1	ORPHA:2117
HP:0033725	Thin corpus callosum	84314	TMEM107	ORPHA:564
HP:0033725	Thin corpus callosum	57096	RPGRIP1	ORPHA:564
HP:0033725	Thin corpus callosum	79770	TXNDC15	ORPHA:564
HP:0033725	Thin corpus callosum	23322	RPGRIP1L	ORPHA:564
HP:0033725	Thin corpus callosum	23322	RPGRIP1L	ORPHA:1454
HP:0033725	Thin corpus callosum	257	ALX3	ORPHA:391474
HP:0033725	Thin corpus callosum	652	BMP4	OMIM:607932
HP:0033725	Thin corpus callosum	9184	BUB3	ORPHA:1052
HP:0033725	Thin corpus callosum	699	BUB1	ORPHA:1052
HP:0033725	Thin corpus callosum	9702	CEP57	ORPHA:1052
HP:0033725	Thin corpus callosum	9319	TRIP13	ORPHA:1052
HP:0033725	Thin corpus callosum	701	BUB1B	ORPHA:1052
HP:0033725	Thin corpus callosum	4001	LMNB1	ORPHA:99027
HP:0033725	Thin corpus callosum	29980	DONSON	OMIM:251230
HP:0033725	Thin corpus callosum	1203	CLN5	ORPHA:228360
HP:0033725	Thin corpus callosum	10059	DNM1L	ORPHA:98673
HP:0033725	Thin corpus callosum	4976	OPA1	ORPHA:98673
HP:0033725	Thin corpus callosum	4702	NDUFA8	OMIM:619272
HP:0033725	Thin corpus callosum	1436	CSF1R	OMIM:221820
HP:0033725	Thin corpus callosum	4099	MAG	OMIM:616680
HP:0033725	Thin corpus callosum	84340	GFM2	ORPHA:565624
HP:0033725	Thin corpus callosum	10134	BCAP31	ORPHA:369939
HP:0033725	Thin corpus callosum	5832	ALDH18A1	OMIM:616586
HP:0033725	Thin corpus callosum	5832	ALDH18A1	ORPHA:447753
HP:0033725	Thin corpus callosum	5832	ALDH18A1	OMIM:601162
HP:0033725	Thin corpus callosum	5832	ALDH18A1	ORPHA:447760
HP:0033725	Thin corpus callosum	4125	MAN2B1	OMIM:248500
HP:0033725	Thin corpus callosum	777	CACNA1E	OMIM:618285
HP:0033725	Thin corpus callosum	64207	IRF2BPL	OMIM:618088
HP:0033725	Thin corpus callosum	51728	POLR3K	OMIM:619310
HP:0033725	Thin corpus callosum	10273	STUB1	ORPHA:412057
HP:0033725	Thin corpus callosum	9255	AIMP1	OMIM:260600
HP:0033725	Thin corpus callosum	51692	CPSF3	OMIM:619876
HP:0033725	Thin corpus callosum	3295	HSD17B4	OMIM:261515
HP:0033725	Thin corpus callosum	4191	MDH2	OMIM:617339
HP:0033725	Thin corpus callosum	84188	FAR1	ORPHA:447753
HP:0033725	Thin corpus callosum	27072	VPS41	OMIM:619389
HP:0033725	Thin corpus callosum	91875	TTC5	OMIM:619244
HP:0033725	Thin corpus callosum	23065	EMC1	OMIM:616875
HP:0033725	Thin corpus callosum	23065	EMC1	ORPHA:480898
HP:0033725	Thin corpus callosum	79152	FA2H	ORPHA:171629
HP:0033725	Thin corpus callosum	51761	ATP8A2	OMIM:615268
HP:0033725	Thin corpus callosum	9409	PEX16	OMIM:614877
HP:0033725	Thin corpus callosum	57704	GBA2	ORPHA:320391
HP:0033725	Thin corpus callosum	79944	L2HGDH	OMIM:236792
HP:0033725	Thin corpus callosum	27183	VPS4A	OMIM:619273
HP:0033725	Thin corpus callosum	57003	CCDC47	OMIM:618268
HP:0033725	Thin corpus callosum	9759	HDAC4	OMIM:619797
HP:0033725	Thin corpus callosum	7862	BRPF1	OMIM:617333
HP:0033725	Thin corpus callosum	1213	CLTC	OMIM:617854
HP:0033725	Thin corpus callosum	23040	MYT1L	OMIM:616521
HP:0033725	Thin corpus callosum	3839	KPNA3	OMIM:620106
HP:0033725	Thin corpus callosum	5393	EXOSC9	ORPHA:2254
HP:0033725	Thin corpus callosum	23287	AGTPBP1	ORPHA:2254
HP:0033725	Thin corpus callosum	51010	EXOSC3	ORPHA:2254
HP:0033725	Thin corpus callosum	7443	VRK1	ORPHA:2254
HP:0033725	Thin corpus callosum	91137	SLC25A46	ORPHA:2254
HP:0033725	Thin corpus callosum	4897	NRCAM	OMIM:619833
HP:0033725	Thin corpus callosum	116115	ZNF526	OMIM:619877
HP:0033725	Thin corpus callosum	3008	H1-4	OMIM:617537
HP:0033725	Thin corpus callosum	55733	HHAT	OMIM:600092
HP:0033725	Thin corpus callosum	90624	LYRM7	OMIM:615838
HP:0033725	Thin corpus callosum	1119	CHKA	OMIM:620023
HP:0033725	Thin corpus callosum	93210	PGAP3	OMIM:615716
HP:0033725	Thin corpus callosum	83475	DOHH	OMIM:620066
HP:0033725	Thin corpus callosum	5605	MAP2K2	OMIM:615280
HP:0033725	Thin corpus callosum	54828	BCAS3	OMIM:619641
HP:0033725	Thin corpus callosum	55182	RNF220	OMIM:619688
HP:0033725	Thin corpus callosum	8867	SYNJ1	OMIM:617389
HP:0033725	Thin corpus callosum	9442	MED27	OMIM:619286
HP:0033725	Thin corpus callosum	477	ATP1A2	OMIM:619605
HP:0033725	Thin corpus callosum	478	ATP1A3	OMIM:619606
HP:0033725	Thin corpus callosum	318	NUDT2	OMIM:619844
HP:0033725	Thin corpus callosum	23031	MAST3	OMIM:620115
HP:0033725	Thin corpus callosum	84520	GON7	OMIM:619603
HP:0033725	Thin corpus callosum	79158	GNPTAB	OMIM:252500
HP:0033725	Thin corpus callosum	387119	CEP85L	ORPHA:572013
HP:0033725	Thin corpus callosum	10430	TMEM147	OMIM:620075
HP:0033725	Thin corpus callosum	6595	SMARCA2	OMIM:619293
HP:0033725	Thin corpus callosum	5934	RBL2	OMIM:619690
HP:0033725	Thin corpus callosum	5354	PLP1	OMIM:312080
HP:0033725	Thin corpus callosum	23250	ATP11A	OMIM:619851
HP:0033725	Thin corpus callosum	92255	LMBRD2	OMIM:619694
HP:0033725	Thin corpus callosum	111	ADCY5	OMIM:619651
HP:0033725	Thin corpus callosum	7283	TUBG1	OMIM:615412
HP:0033725	Thin corpus callosum	9487	PIGL	OMIM:280000
HP:0033725	Thin corpus callosum	23219	FBXO28	OMIM:619777
HP:0033725	Thin corpus callosum	1107	CHD3	OMIM:618205
HP:0033725	Thin corpus callosum	7920	ABHD16A	OMIM:619735
HP:0033725	Thin corpus callosum	9439	MED23	OMIM:614249
HP:0033725	Thin corpus callosum	819	CAMLG	OMIM:620201
HP:0033725	Thin corpus callosum	2801	GOLGA2	OMIM:620240
HP:0033725	Thin corpus callosum	2898	GRIK2	OMIM:619580
HP:0033725	Thin corpus callosum	26175	LYSET	OMIM:619345
HP:0033725	Thin corpus callosum	283987	HID1	OMIM:619983
HP:0033725	Thin corpus callosum	5442	POLRMT	OMIM:619743
HP:0033725	Thin corpus callosum	127833	SYT2	OMIM:619461
HP:0033725	Thin corpus callosum	3980	LIG3	OMIM:619780
HP:0033725	Thin corpus callosum	1892	ECHS1	OMIM:616277
HP:0033725	Thin corpus callosum	2720	GLB1	OMIM:253010
HP:0033725	Thin corpus callosum	3708	ITPR1	OMIM:206700
HP:0033725	Thin corpus callosum	9230	RAB11B	OMIM:617807
HP:0033725	Thin corpus callosum	5297	PI4KA	OMIM:619708
HP:0033725	Thin corpus callosum	7074	TIAM1	OMIM:619908
HP:0033725	Thin corpus callosum	10533	ATG7	OMIM:619422
HP:0033726	Lupus nephritis	2212	FCGR2A	OMIM:152700
HP:0033726	Lupus nephritis	2213	FCGR2B	OMIM:152700
HP:0033726	Lupus nephritis	26191	PTPN22	OMIM:152700
HP:0033726	Lupus nephritis	11277	TREX1	OMIM:152700
HP:0033726	Lupus nephritis	1493	CTLA4	OMIM:152700
HP:0033726	Lupus nephritis	1773	DNASE1	OMIM:152700
HP:0033726	Lupus nephritis	1776	DNASE1L3	OMIM:614420
HP:0007872	Choroidal hemangioma	2776	GNAQ	OMIM:185300
HP:0007872	Choroidal hemangioma	11235	PDCD10	ORPHA:221061
HP:0007872	Choroidal hemangioma	83605	CCM2	ORPHA:221061
HP:0007872	Choroidal hemangioma	889	KRIT1	ORPHA:221061
HP:0007873	Abnormally prominent line of Schwalbe	5308	PITX2	OMIM:180500
HP:0007874	Almond-shaped palpebral fissure	22827	PUF60	ORPHA:508498
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177907
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:398069
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	56992	KIF15	ORPHA:261323
HP:0007874	Almond-shaped palpebral fissure	50814	NSDHL	OMIM:300831
HP:0007874	Almond-shaped palpebral fissure	50814	NSDHL	ORPHA:251383
HP:0007874	Almond-shaped palpebral fissure	57003	CCDC47	OMIM:618268
HP:0007874	Almond-shaped palpebral fissure	1182	CLCN3	OMIM:619512
HP:0007874	Almond-shaped palpebral fissure	7468	NSD2	OMIM:619695
HP:0007874	Almond-shaped palpebral fissure	672	BRCA1	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	7516	XRCC2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	29089	UBE2T	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	675	BRCA2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55120	FANCL	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2177	FANCD2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2175	FANCA	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2187	FANCB	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2176	FANCC	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2178	FANCE	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2188	FANCF	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2189	FANCG	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	5888	RAD51	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	5889	RAD51C	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55159	RFWD3	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	83990	BRIP1	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	57697	FANCM	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	79728	PALB2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	84464	SLX4	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2072	ERCC4	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55215	FANCI	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	7681	MKRN3	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	3653	IPW	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	791114	PWRN1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	100033413	SNORD116-1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	8924	HERC2	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	145624	PWAR1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	23742	NPAP1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	338433	SNORD115-1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	6045	RNF2	OMIM:619460
HP:0007874	Almond-shaped palpebral fissure	7319	UBE2A	OMIM:300860
HP:0007874	Almond-shaped palpebral fissure	55023	PHIP	ORPHA:589905
HP:0007874	Almond-shaped palpebral fissure	1105	CHD1	OMIM:617682
HP:0007874	Almond-shaped palpebral fissure	1105	CHD1	ORPHA:529965
HP:0007874	Almond-shaped palpebral fissure	10524	KAT5	OMIM:619103
HP:0007874	Almond-shaped palpebral fissure	6857	SYT1	ORPHA:522077
HP:0007874	Almond-shaped palpebral fissure	10300	KATNB1	OMIM:616212
HP:0007874	Almond-shaped palpebral fissure	5594	MAPK1	OMIM:619087
HP:0007874	Almond-shaped palpebral fissure	80173	IFT74	OMIM:619582
HP:0007874	Almond-shaped palpebral fissure	3188	HNRNPH2	OMIM:300986
HP:0007874	Almond-shaped palpebral fissure	6492	SIM1	ORPHA:171829
HP:0007874	Almond-shaped palpebral fissure	6492	SIM1	ORPHA:398079
HP:0007874	Almond-shaped palpebral fissure	84520	GON7	OMIM:619603
HP:0007874	Almond-shaped palpebral fissure	26057	ANKRD17	OMIM:619504
HP:0007874	Almond-shaped palpebral fissure	5373	PMM2	OMIM:212065
HP:0007874	Almond-shaped palpebral fissure	1759	DNM1	OMIM:620352
HP:0033733	Low-grade vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0033734	High-grade vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033734	High-grade vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0033736	Grade II vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0033737	Grade III vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033737	Grade III vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0007880	Marginal corneal dystrophy	285440	CYP4V2	OMIM:210370
HP:0007881	Central corneal dystrophy	7045	TGFBI	ORPHA:98960
HP:0007881	Central corneal dystrophy	7045	TGFBI	ORPHA:98962
HP:0007885	Slowed horizontal saccades	2629	GBA1	OMIM:231005
HP:0007885	Slowed horizontal saccades	4137	MAPT	ORPHA:240103
HP:0007889	Iridescent posterior subcapsular cataract	7555	CNBP	OMIM:602668
HP:0033741	Grade IV vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033743	Macular agenesis	7490	WT1	OMIM:106210
HP:0033743	Macular agenesis	5080	PAX6	OMIM:106210
HP:0033747	Abnormal exteroceptive sensation	85446	ZFHX2	OMIM:147430
HP:0033747	Abnormal exteroceptive sensation	4803	NGF	ORPHA:64752
HP:0033747	Abnormal exteroceptive sensation	4803	NGF	OMIM:608654
HP:0033747	Abnormal exteroceptive sensation	4914	NTRK1	ORPHA:64752
HP:0033747	Abnormal exteroceptive sensation	4914	NTRK1	ORPHA:642
HP:0033747	Abnormal exteroceptive sensation	4358	MPV17	OMIM:256810
HP:0033747	Abnormal exteroceptive sensation	54463	RETREG1	OMIM:201300
HP:0033747	Abnormal exteroceptive sensation	65125	WNK1	OMIM:201300
HP:0033747	Abnormal exteroceptive sensation	26191	PTPN22	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3106	HLA-B	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3106	HLA-B	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3123	HLA-DRB1	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3123	HLA-DRB1	OMIM:126200
HP:0033747	Abnormal exteroceptive sensation	8974	P4HA2	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	4352	MPL	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	4352	MPL	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	7066	THPO	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	3717	JAK2	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	3717	JAK2	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	6399	TRAPPC2	ORPHA:93284
HP:0033747	Abnormal exteroceptive sensation	3094	HINT1	ORPHA:324442
HP:0033747	Abnormal exteroceptive sensation	80207	OPA3	ORPHA:67036
HP:0033747	Abnormal exteroceptive sensation	8029	CUBN	OMIM:261100
HP:0033747	Abnormal exteroceptive sensation	2767	GNA11	ORPHA:428
HP:0033747	Abnormal exteroceptive sensation	2767	GNA11	OMIM:615361
HP:0033747	Abnormal exteroceptive sensation	846	CASR	ORPHA:428
HP:0033747	Abnormal exteroceptive sensation	846	CASR	OMIM:601198
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:94089
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:562
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:79443
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:79444
HP:0033747	Abnormal exteroceptive sensation	8675	STX16	ORPHA:94089
HP:0033747	Abnormal exteroceptive sensation	773	CACNA1A	OMIM:108500
HP:0033747	Abnormal exteroceptive sensation	773	CACNA1A	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	4072	EPCAM	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	4292	MLH1	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5395	PMS2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	27030	MLH3	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	22909	FAN1	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	7048	TGFBR2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	3845	KRAS	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5290	PIK3CA	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	2956	MSH6	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5378	PMS1	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	4436	MSH2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	7084	TK2	ORPHA:254886
HP:0033747	Abnormal exteroceptive sensation	5428	POLG	ORPHA:254886
HP:0033747	Abnormal exteroceptive sensation	5428	POLG	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	6335	SCN9A	OMIM:243000
HP:0033747	Abnormal exteroceptive sensation	64218	SEMA4A	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	657	BMPR1A	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	6224	RPS20	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	10560	SLC19A2	ORPHA:49827
HP:0033747	Abnormal exteroceptive sensation	710	SERPING1	ORPHA:100050
HP:0033747	Abnormal exteroceptive sensation	7132	TNFRSF1A	ORPHA:32960
HP:0033747	Abnormal exteroceptive sensation	1890	TYMP	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	3980	LIG3	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	50484	RRM2B	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	351	APP	ORPHA:324703
HP:0033747	Abnormal exteroceptive sensation	351	APP	OMIM:605714
HP:0033747	Abnormal exteroceptive sensation	9630	GNA14	ORPHA:1063
HP:0033747	Abnormal exteroceptive sensation	22954	TRIM32	OMIM:254110
HP:0033747	Abnormal exteroceptive sensation	64856	VWA1	OMIM:619216
HP:0033747	Abnormal exteroceptive sensation	9927	MFN2	ORPHA:2398
HP:0033747	Abnormal exteroceptive sensation	9927	MFN2	ORPHA:99947
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	OMIM:601042
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	ORPHA:98811
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	ORPHA:53583
HP:0033747	Abnormal exteroceptive sensation	83550	GPR101	ORPHA:963
HP:0033747	Abnormal exteroceptive sensation	9049	AIP	ORPHA:963
HP:0033747	Abnormal exteroceptive sensation	3852	KRT5	ORPHA:79400
HP:0033747	Abnormal exteroceptive sensation	3861	KRT14	ORPHA:79400
HP:0033747	Abnormal exteroceptive sensation	112476	PRRT2	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	112476	PRRT2	ORPHA:98811
HP:0033747	Abnormal exteroceptive sensation	6323	SCN1A	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	477	ATP1A2	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	8131	NPRL3	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	10641	NPRL2	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	9681	DEPDC5	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	7389	UROD	ORPHA:95159
HP:0033747	Abnormal exteroceptive sensation	2632	GBE1	OMIM:263570
HP:0033747	Abnormal exteroceptive sensation	4524	MTHFR	OMIM:236250
HP:0033747	Abnormal exteroceptive sensation	6557	SLC12A1	OMIM:601678
HP:0033747	Abnormal exteroceptive sensation	6329	SCN4A	ORPHA:682
HP:0033747	Abnormal exteroceptive sensation	3758	KCNJ1	OMIM:241200
HP:0033747	Abnormal exteroceptive sensation	4747	NEFL	ORPHA:101085
HP:0033747	Abnormal exteroceptive sensation	5376	PMP22	ORPHA:101081
HP:0033747	Abnormal exteroceptive sensation	5376	PMP22	ORPHA:640
HP:0033747	Abnormal exteroceptive sensation	5621	PRNP	ORPHA:356
HP:0033747	Abnormal exteroceptive sensation	595	CCND1	ORPHA:29073
HP:0033747	Abnormal exteroceptive sensation	9150	CTDP1	ORPHA:48431
HP:0033747	Abnormal exteroceptive sensation	7415	VCP	ORPHA:435387
HP:0033747	Abnormal exteroceptive sensation	4221	MEN1	ORPHA:97279
HP:0033747	Abnormal exteroceptive sensation	7528	YY1	ORPHA:97279
HP:0033747	Abnormal exteroceptive sensation	4669	NAGLU	OMIM:616491
HP:0033747	Abnormal exteroceptive sensation	3145	HMBS	OMIM:176000
HP:0033747	Abnormal exteroceptive sensation	9516	LITAF	OMIM:601098
HP:0033747	Abnormal exteroceptive sensation	51062	ATL1	OMIM:613708
HP:0033747	Abnormal exteroceptive sensation	2717	GLA	OMIM:301500
HP:0033747	Abnormal exteroceptive sensation	2694	CBLIF	OMIM:261000
HP:0033747	Abnormal exteroceptive sensation	3977	LIFR	ORPHA:3206
HP:0033747	Abnormal exteroceptive sensation	210	ALAD	OMIM:612740
HP:0033747	Abnormal exteroceptive sensation	81846	SBF2	ORPHA:99956
HP:0033747	Abnormal exteroceptive sensation	27286	SRPX2	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	2903	GRIN2A	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	2566	GABRG2	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	57410	SCYL1	ORPHA:466794
HP:0033747	Abnormal exteroceptive sensation	57410	SCYL1	OMIM:616719
HP:0033747	Abnormal exteroceptive sensation	3798	KIF5A	ORPHA:100991
HP:0033747	Abnormal exteroceptive sensation	84842	HPDL	OMIM:619027
HP:0033747	Abnormal exteroceptive sensation	10019	SH2B3	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	811	CALR	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	7157	TP53	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	54790	TET2	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	10801	SEPTIN9	ORPHA:2901
HP:0033747	Abnormal exteroceptive sensation	6559	SLC12A3	OMIM:263800
HP:0033747	Abnormal exteroceptive sensation	6559	SLC12A3	ORPHA:358
HP:0033747	Abnormal exteroceptive sensation	7390	UROS	ORPHA:79277
HP:0033747	Abnormal exteroceptive sensation	2623	GATA1	ORPHA:79277
HP:0033747	Abnormal exteroceptive sensation	1188	CLCNKB	ORPHA:358
HP:0033747	Abnormal exteroceptive sensation	6310	ATXN1	OMIM:164400
HP:0033747	Abnormal exteroceptive sensation	4668	NAGA	ORPHA:79279
HP:0033747	Abnormal exteroceptive sensation	3119	HLA-DQB1	OMIM:126200
HP:0033747	Abnormal exteroceptive sensation	5133	PDCD1	OMIM:126200
HP:0033747	Abnormal exteroceptive sensation	149233	IL23R	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	6775	STAT4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3586	IL10	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	4210	MEFV	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	1230	CCR1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	355	FAS	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3592	IL12A	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	101928376	IL12A-AS1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	7099	TLR4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3459	IFNGR1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	720	C4A	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	337867	UBAC2	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	51752	ERAP1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	8302	KLRC4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	7879	RAB7A	OMIM:600882
HP:0033747	Abnormal exteroceptive sensation	10558	SPTLC1	OMIM:162400
HP:0033747	Abnormal exteroceptive sensation	10558	SPTLC1	ORPHA:36386
HP:0033747	Abnormal exteroceptive sensation	54332	GDAP1	OMIM:607706
HP:0033747	Abnormal exteroceptive sensation	54332	GDAP1	ORPHA:99948
HP:0033747	Abnormal exteroceptive sensation	51816	ADA2	OMIM:182410
HP:0033747	Abnormal exteroceptive sensation	10397	NDRG1	OMIM:601455
HP:0033747	Abnormal exteroceptive sensation	87178	PNPT1	ORPHA:101111
HP:0033747	Abnormal exteroceptive sensation	55958	KLHL9	ORPHA:399081
HP:0033747	Abnormal exteroceptive sensation	91574	MTRFR	OMIM:615035
HP:0033747	Abnormal exteroceptive sensation	22880	MORC2	OMIM:616688
HP:0033747	Abnormal exteroceptive sensation	50717	DCAF8	OMIM:610100
HP:0033747	Abnormal exteroceptive sensation	3035	HARS1	ORPHA:488333
HP:0033747	Abnormal exteroceptive sensation	50846	DHH	OMIM:607080
HP:0033747	Abnormal exteroceptive sensation	23064	SETX	OMIM:606002
HP:0033747	Abnormal exteroceptive sensation	26580	BSCL2	OMIM:270685
HP:0033747	Abnormal exteroceptive sensation	9517	SPTLC2	ORPHA:36386
HP:0033747	Abnormal exteroceptive sensation	9759	HDAC4	OMIM:600430
HP:0033747	Abnormal exteroceptive sensation	253738	EBF3	OMIM:617330
HP:0033747	Abnormal exteroceptive sensation	55768	NGLY1	OMIM:615273
HP:0033747	Abnormal exteroceptive sensation	8242	KDM5C	OMIM:300534
HP:0033747	Abnormal exteroceptive sensation	2892	GRIA3	ORPHA:364028
HP:0033747	Abnormal exteroceptive sensation	55699	IARS2	OMIM:616007
HP:0033747	Abnormal exteroceptive sensation	7204	TRIO	OMIM:618825
HP:0033747	Abnormal exteroceptive sensation	7204	TRIO	OMIM:617061
HP:0033747	Abnormal exteroceptive sensation	10059	DNM1L	OMIM:614388
HP:0033747	Abnormal exteroceptive sensation	781	CACNA2D1	OMIM:620149
HP:0033747	Abnormal exteroceptive sensation	80036	TRPM3	OMIM:620224
HP:0033747	Abnormal exteroceptive sensation	55775	TDP1	ORPHA:94124
HP:0033747	Abnormal exteroceptive sensation	4204	MECP2	OMIM:300260
HP:0033747	Abnormal exteroceptive sensation	219854	TMEM218	OMIM:619562
HP:0033747	Abnormal exteroceptive sensation	11280	SCN11A	OMIM:615548
HP:0033747	Abnormal exteroceptive sensation	9131	AIFM1	ORPHA:101078
HP:0033747	Abnormal exteroceptive sensation	8518	ELP1	ORPHA:1764
HP:0033747	Abnormal exteroceptive sensation	22948	CCT5	ORPHA:139578
HP:0033747	Abnormal exteroceptive sensation	5165	PDK3	OMIM:300905
HP:0033747	Abnormal exteroceptive sensation	85358	SHANK3	OMIM:606232
HP:0033747	Abnormal exteroceptive sensation	85358	SHANK3	ORPHA:48652
HP:0033747	Abnormal exteroceptive sensation	2705	GJB1	ORPHA:101075
HP:0033747	Abnormal exteroceptive sensation	7681	MKRN3	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	3653	IPW	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	791114	PWRN1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	100033413	SNORD116-1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	8924	HERC2	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	145624	PWAR1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	23742	NPAP1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	338433	SNORD115-1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	7343	UBTF	ORPHA:500180
HP:0033747	Abnormal exteroceptive sensation	3190	HNRNPK	ORPHA:453504
HP:0033747	Abnormal exteroceptive sensation	3190	HNRNPK	ORPHA:352665
HP:0033747	Abnormal exteroceptive sensation	9839	ZEB2	ORPHA:261537
HP:0033747	Abnormal exteroceptive sensation	9839	ZEB2	ORPHA:261552
HP:0033747	Abnormal exteroceptive sensation	5631	PRPS1	ORPHA:99014
HP:0033747	Abnormal exteroceptive sensation	6792	CDKL5	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	6792	CDKL5	ORPHA:505652
HP:0033747	Abnormal exteroceptive sensation	22854	NTNG1	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	9568	GABBR2	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	8243	SMC1A	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	8567	MADD	OMIM:619004
HP:0033747	Abnormal exteroceptive sensation	8567	MADD	OMIM:619005
HP:0033747	Abnormal exteroceptive sensation	5375	PMP2	OMIM:618279
HP:0033747	Abnormal exteroceptive sensation	8566	PDXK	OMIM:618511
HP:0033747	Abnormal exteroceptive sensation	283489	CHAMP1	OMIM:616579
HP:0033747	Abnormal exteroceptive sensation	6652	SORD	OMIM:618912
HP:0033747	Abnormal exteroceptive sensation	2314	FLII	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	23096	IQSEC2	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	10743	RAI1	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	10743	RAI1	OMIM:182290
HP:0033747	Abnormal exteroceptive sensation	3481	IGF2	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	10984	KCNQ1OT1	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	283120	H19	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	8888	MCM3AP	OMIM:618124
HP:0033747	Abnormal exteroceptive sensation	2200	FBN1	ORPHA:2833
HP:0033747	Abnormal exteroceptive sensation	59345	GNB4	OMIM:615185
HP:0033747	Abnormal exteroceptive sensation	79628	SH3TC2	ORPHA:99949
HP:0033747	Abnormal exteroceptive sensation	4359	MPZ	ORPHA:3115
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:398069
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	182	JAG1	OMIM:619574
HP:0033747	Abnormal exteroceptive sensation	4010	LMX1B	ORPHA:2614
HP:0033747	Abnormal exteroceptive sensation	19	ABCA1	OMIM:205400
HP:0033747	Abnormal exteroceptive sensation	19	ABCA1	ORPHA:31150
HP:0033747	Abnormal exteroceptive sensation	3868	KRT16	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3857	KRT9	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3848	KRT1	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3248	HPGD	ORPHA:2796
HP:0033747	Abnormal exteroceptive sensation	6578	SLCO2A1	ORPHA:2796
HP:0033747	Abnormal exteroceptive sensation	81790	RNF170	OMIM:619686
HP:0033747	Abnormal exteroceptive sensation	3074	HEXB	OMIM:268800
HP:0033747	Abnormal exteroceptive sensation	7051	TGM1	ORPHA:100976
HP:0033747	Abnormal exteroceptive sensation	6492	SIM1	ORPHA:398079
HP:0033747	Abnormal exteroceptive sensation	165	AEBP1	ORPHA:536532
HP:0033747	Abnormal exteroceptive sensation	3315	HSPB1	ORPHA:99940
HP:0033747	Abnormal exteroceptive sensation	4677	NARS1	OMIM:619091
HP:0033747	Abnormal exteroceptive sensation	4677	NARS1	OMIM:619092
HP:0033747	Abnormal exteroceptive sensation	2581	GALC	ORPHA:206443
HP:0033747	Abnormal exteroceptive sensation	2581	GALC	ORPHA:206448
HP:0033747	Abnormal exteroceptive sensation	26278	SACS	ORPHA:98
HP:0033747	Abnormal exteroceptive sensation	80821	DDHD1	ORPHA:101008
HP:0033747	Abnormal exteroceptive sensation	8218	CLTCL1	ORPHA:453510
HP:0033747	Abnormal exteroceptive sensation	23400	ATP13A2	OMIM:617225
HP:0033747	Abnormal exteroceptive sensation	3098	HK1	ORPHA:99953
HP:0033747	Abnormal exteroceptive sensation	25894	PLEKHG4	ORPHA:98765
HP:0033747	Abnormal exteroceptive sensation	10522	DEAF1	ORPHA:468620
HP:0033747	Abnormal exteroceptive sensation	8831	SYNGAP1	ORPHA:544254
HP:0033747	Abnormal exteroceptive sensation	84188	FAR1	ORPHA:447753
HP:0033747	Abnormal exteroceptive sensation	5832	ALDH18A1	ORPHA:447753
HP:0033747	Abnormal exteroceptive sensation	6389	SDHA	OMIM:619259
HP:0033747	Abnormal exteroceptive sensation	6336	SCN10A	OMIM:615551
HP:0033747	Abnormal exteroceptive sensation	114548	NLRP3	ORPHA:47045
HP:0033747	Abnormal exteroceptive sensation	84504	NKX6-2	ORPHA:527497
HP:0033747	Abnormal exteroceptive sensation	215	ABCD1	ORPHA:139399
HP:0033747	Abnormal exteroceptive sensation	113189	CHST14	ORPHA:2953
HP:0033747	Abnormal exteroceptive sensation	113189	CHST14	OMIM:601776
HP:0033747	Abnormal exteroceptive sensation	29940	DSE	ORPHA:2953
HP:0033747	Abnormal exteroceptive sensation	22943	DKK1	ORPHA:268882
HP:0033747	Abnormal exteroceptive sensation	8659	ALDH4A1	ORPHA:79101
HP:0033747	Abnormal exteroceptive sensation	2332	FMR1	ORPHA:93256
HP:0033747	Abnormal exteroceptive sensation	65998	ZFTA	ORPHA:251636
HP:0033747	Abnormal exteroceptive sensation	5970	RELA	ORPHA:251636
HP:0033747	Abnormal exteroceptive sensation	9409	PEX16	OMIM:614877
HP:0033747	Abnormal exteroceptive sensation	1836	SLC26A2	ORPHA:93307
HP:0033747	Abnormal exteroceptive sensation	1311	COMP	OMIM:619161
HP:0033747	Abnormal exteroceptive sensation	25923	ATL3	OMIM:615632
HP:0033747	Abnormal exteroceptive sensation	547	KIF1A	OMIM:614213
HP:0033747	Abnormal exteroceptive sensation	9692	PRORP	OMIM:619737
HP:0033747	Abnormal exteroceptive sensation	59335	PRDM12	OMIM:616488
HP:0033747	Abnormal exteroceptive sensation	57462	MYORG	OMIM:618317
HP:0033747	Abnormal exteroceptive sensation	56652	TWNK	OMIM:607459
HP:0033747	Abnormal exteroceptive sensation	540	ATP7B	OMIM:277900
HP:0033747	Abnormal exteroceptive sensation	121512	FGD4	OMIM:609311
HP:0033747	Abnormal exteroceptive sensation	1277	COL1A1	ORPHA:1310
HP:0033747	Abnormal exteroceptive sensation	259232	NALCN	ORPHA:371364
HP:0033747	Abnormal exteroceptive sensation	285175	UNC80	ORPHA:371364
HP:0033747	Abnormal exteroceptive sensation	4771	NF2	ORPHA:637
HP:0033747	Abnormal exteroceptive sensation	5660	PSAP	ORPHA:206436
HP:0033747	Abnormal exteroceptive sensation	3265	HRAS	ORPHA:2874
HP:0033748	Hypoesthesia	25923	ATL3	OMIM:615632
HP:0033748	Hypoesthesia	547	KIF1A	OMIM:614213
HP:0033748	Hypoesthesia	5376	PMP22	OMIM:162500
HP:0033748	Hypoesthesia	9692	PRORP	OMIM:619737
HP:0033748	Hypoesthesia	59335	PRDM12	OMIM:616488
HP:0033748	Hypoesthesia	57462	MYORG	OMIM:618317
HP:0033748	Hypoesthesia	5428	POLG	OMIM:607459
HP:0033748	Hypoesthesia	5428	POLG	OMIM:603041
HP:0033748	Hypoesthesia	56652	TWNK	OMIM:607459
HP:0033748	Hypoesthesia	1890	TYMP	OMIM:603041
HP:0033748	Hypoesthesia	540	ATP7B	OMIM:277900
HP:0033748	Hypoesthesia	9516	LITAF	OMIM:601098
HP:0033748	Hypoesthesia	710	SERPING1	OMIM:106100
HP:0033748	Hypoesthesia	121512	FGD4	OMIM:609311
HP:0007892	Hypoplasia of the lacrimal punctum	55012	PPP2R3C	OMIM:618419
HP:0007892	Hypoplasia of the lacrimal punctum	2263	FGFR2	OMIM:149730
HP:0007892	Hypoplasia of the lacrimal punctum	2263	FGFR2	ORPHA:2363
HP:0007892	Hypoplasia of the lacrimal punctum	2261	FGFR3	ORPHA:2363
HP:0007892	Hypoplasia of the lacrimal punctum	2255	FGF10	ORPHA:2363
HP:0007898	Exudative retinopathy	4041	LRP5	ORPHA:2788
HP:0007898	Exudative retinopathy	4041	LRP5	OMIM:259770
HP:0007898	Exudative retinopathy	80169	CTC1	OMIM:612199
HP:0007898	Exudative retinopathy	26277	TINF2	OMIM:268130
HP:0007898	Exudative retinopathy	26277	TINF2	OMIM:613990
HP:0033754	Abnormal left ventricular end-diastolic volume	1756	DMD	OMIM:302045
HP:0033754	Abnormal left ventricular end-diastolic volume	1410	CRYAB	OMIM:615184
HP:0033754	Abnormal left ventricular end-diastolic volume	7137	TNNI3	OMIM:613286
HP:0033754	Abnormal left ventricular end-diastolic volume	7137	TNNI3	OMIM:611880
HP:0033754	Abnormal left ventricular end-diastolic volume	4607	MYBPC3	OMIM:615396
HP:0033754	Abnormal left ventricular end-diastolic volume	4624	MYH6	OMIM:613252
HP:0033754	Abnormal left ventricular end-diastolic volume	84665	MYPN	OMIM:615248
HP:0033754	Abnormal left ventricular end-diastolic volume	91624	NEXN	OMIM:613122
HP:0033754	Abnormal left ventricular end-diastolic volume	9531	BAG3	OMIM:613881
HP:0033754	Abnormal left ventricular end-diastolic volume	5663	PSEN1	OMIM:613694
HP:0033754	Abnormal left ventricular end-diastolic volume	5664	PSEN2	OMIM:613697
HP:0033754	Abnormal left ventricular end-diastolic volume	70	ACTC1	OMIM:613424
HP:0033754	Abnormal left ventricular end-diastolic volume	9529	BAG5	OMIM:619747
HP:0033754	Abnormal left ventricular end-diastolic volume	6901	TAFAZZIN	OMIM:302060
HP:0033754	Abnormal left ventricular end-diastolic volume	5894	RAF1	OMIM:615916
HP:0033754	Abnormal left ventricular end-diastolic volume	1829	DSG2	OMIM:612877
HP:0033754	Abnormal left ventricular end-diastolic volume	2218	FKTN	OMIM:611615
HP:0033754	Abnormal left ventricular end-diastolic volume	171019	ADAMTS19	OMIM:620067
HP:0033754	Abnormal left ventricular end-diastolic volume	7168	TPM1	OMIM:611878
HP:0033754	Abnormal left ventricular end-diastolic volume	6444	SGCD	OMIM:606685
HP:0033754	Abnormal left ventricular end-diastolic volume	11155	LDB3	OMIM:601493
HP:0033754	Abnormal left ventricular end-diastolic volume	7139	TNNT2	OMIM:601494
HP:0033754	Abnormal left ventricular end-diastolic volume	7414	VCL	OMIM:611407
HP:0033754	Abnormal left ventricular end-diastolic volume	8048	CSRP3	OMIM:607482
HP:0033755	Increased left ventricular end-diastolic volume	1756	DMD	OMIM:302045
HP:0033755	Increased left ventricular end-diastolic volume	1410	CRYAB	OMIM:615184
HP:0033755	Increased left ventricular end-diastolic volume	7137	TNNI3	OMIM:613286
HP:0033755	Increased left ventricular end-diastolic volume	7137	TNNI3	OMIM:611880
HP:0033755	Increased left ventricular end-diastolic volume	4607	MYBPC3	OMIM:615396
HP:0033755	Increased left ventricular end-diastolic volume	4624	MYH6	OMIM:613252
HP:0033755	Increased left ventricular end-diastolic volume	84665	MYPN	OMIM:615248
HP:0033755	Increased left ventricular end-diastolic volume	91624	NEXN	OMIM:613122
HP:0033755	Increased left ventricular end-diastolic volume	9531	BAG3	OMIM:613881
HP:0033755	Increased left ventricular end-diastolic volume	5663	PSEN1	OMIM:613694
HP:0033755	Increased left ventricular end-diastolic volume	5664	PSEN2	OMIM:613697
HP:0033755	Increased left ventricular end-diastolic volume	70	ACTC1	OMIM:613424
HP:0033755	Increased left ventricular end-diastolic volume	9529	BAG5	OMIM:619747
HP:0033755	Increased left ventricular end-diastolic volume	6901	TAFAZZIN	OMIM:302060
HP:0033755	Increased left ventricular end-diastolic volume	5894	RAF1	OMIM:615916
HP:0033755	Increased left ventricular end-diastolic volume	1829	DSG2	OMIM:612877
HP:0033755	Increased left ventricular end-diastolic volume	2218	FKTN	OMIM:611615
HP:0033755	Increased left ventricular end-diastolic volume	171019	ADAMTS19	OMIM:620067
HP:0033755	Increased left ventricular end-diastolic volume	7168	TPM1	OMIM:611878
HP:0033755	Increased left ventricular end-diastolic volume	6444	SGCD	OMIM:606685
HP:0033755	Increased left ventricular end-diastolic volume	11155	LDB3	OMIM:601493
HP:0033755	Increased left ventricular end-diastolic volume	7139	TNNT2	OMIM:601494
HP:0033755	Increased left ventricular end-diastolic volume	7414	VCL	OMIM:611407
HP:0033755	Increased left ventricular end-diastolic volume	8048	CSRP3	OMIM:607482
HP:0033757	Pancreatic steatosis	134218	DNAJC21	OMIM:617052
HP:0033759	Impaired renal tubular reabsorption of magnesium	54805	CNNM2	OMIM:613882
HP:0003105	Protuberances at ends of long bones	2131	EXT1	OMIM:133700
HP:0003105	Protuberances at ends of long bones	2132	EXT2	OMIM:133701
HP:0003109	Hyperphosphaturia	1497	CTNS	OMIM:219800
HP:0003109	Hyperphosphaturia	1497	CTNS	ORPHA:411629
HP:0003109	Hyperphosphaturia	8074	FGF23	ORPHA:89937
HP:0003109	Hyperphosphaturia	5745	PTH1R	OMIM:156400
HP:0003109	Hyperphosphaturia	142680	SLC34A3	ORPHA:157215
HP:0003109	Hyperphosphaturia	6569	SLC34A1	ORPHA:157215
HP:0003109	Hyperphosphaturia	6569	SLC34A1	OMIM:612286
HP:0003109	Hyperphosphaturia	229	ALDOB	OMIM:229600
HP:0003109	Hyperphosphaturia	4574	MT-TS1	OMIM:220110
HP:0003109	Hyperphosphaturia	4570	MT-TN	OMIM:220110
HP:0003109	Hyperphosphaturia	6834	SURF1	OMIM:220110
HP:0003109	Hyperphosphaturia	1758	DMP1	ORPHA:289176
HP:0003109	Hyperphosphaturia	5167	ENPP1	ORPHA:289176
HP:0003109	Hyperphosphaturia	5167	ENPP1	ORPHA:51608
HP:0003109	Hyperphosphaturia	5167	ENPP1	OMIM:613312
HP:0003109	Hyperphosphaturia	368	ABCC6	ORPHA:51608
HP:0003109	Hyperphosphaturia	9368	NHERF1	OMIM:612287
HP:0003109	Hyperphosphaturia	3172	HNF4A	OMIM:616026
HP:0003109	Hyperphosphaturia	84334	COA8	ORPHA:436271
HP:0003109	Hyperphosphaturia	4221	MEN1	ORPHA:99879
HP:0003109	Hyperphosphaturia	9247	GCM2	ORPHA:99879
HP:0003109	Hyperphosphaturia	79577	CDC73	ORPHA:99879
HP:0003109	Hyperphosphaturia	3845	KRAS	OMIM:163200
HP:0003109	Hyperphosphaturia	4893	NRAS	OMIM:163200
HP:0003109	Hyperphosphaturia	3265	HRAS	OMIM:163200
HP:0003109	Hyperphosphaturia	4952	OCRL	OMIM:309000
HP:0003109	Hyperphosphaturia	2778	GNAS	ORPHA:562
HP:0003109	Hyperphosphaturia	6514	SLC2A2	OMIM:227810
HP:0003109	Hyperphosphaturia	6514	SLC2A2	ORPHA:2088
HP:0003109	Hyperphosphaturia	2628	GATM	OMIM:134600
HP:0003109	Hyperphosphaturia	1184	CLCN5	OMIM:300009
HP:0003109	Hyperphosphaturia	1962	EHHADH	OMIM:615605
HP:0003109	Hyperphosphaturia	540	ATP7B	OMIM:277900
HP:0003109	Hyperphosphaturia	846	CASR	OMIM:239200
HP:0003106	Subperiosteal bone resorption	7421	VDR	OMIM:277440
HP:0003106	Subperiosteal bone resorption	1594	CYP27B1	OMIM:264700
HP:0003106	Subperiosteal bone resorption	1594	CYP27B1	ORPHA:289157
HP:0003106	Subperiosteal bone resorption	120227	CYP2R1	ORPHA:289157
HP:0003103	Abnormal cortical bone morphology	203859	ANO5	ORPHA:53697
HP:0003103	Abnormal cortical bone morphology	4591	TRIM37	OMIM:253250
HP:0003103	Abnormal cortical bone morphology	26040	SETBP1	OMIM:269150
HP:0003103	Abnormal cortical bone morphology	4763	NF1	ORPHA:97685
HP:0003103	Abnormal cortical bone morphology	64132	XYLT2	OMIM:605822
HP:0003103	Abnormal cortical bone morphology	79879	CCDC134	OMIM:619795
HP:0003103	Abnormal cortical bone morphology	6424	SFRP4	OMIM:265900
HP:0003103	Abnormal cortical bone morphology	1184	CLCN5	OMIM:300554
HP:0003103	Abnormal cortical bone morphology	1184	CLCN5	OMIM:300009
HP:0003103	Abnormal cortical bone morphology	142680	SLC34A3	OMIM:241530
HP:0003103	Abnormal cortical bone morphology	1594	CYP27B1	ORPHA:289157
HP:0003103	Abnormal cortical bone morphology	1594	CYP27B1	OMIM:264700
HP:0003103	Abnormal cortical bone morphology	120227	CYP2R1	ORPHA:289157
HP:0003103	Abnormal cortical bone morphology	120227	CYP2R1	OMIM:600081
HP:0003103	Abnormal cortical bone morphology	5593	PRKG2	OMIM:619638
HP:0003103	Abnormal cortical bone morphology	55603	TENT5A	OMIM:617952
HP:0003103	Abnormal cortical bone morphology	6611	SMS	OMIM:309583
HP:0003103	Abnormal cortical bone morphology	2720	GLB1	OMIM:230600
HP:0003103	Abnormal cortical bone morphology	10056	FARSB	OMIM:613658
HP:0003103	Abnormal cortical bone morphology	4313	MMP2	OMIM:259600
HP:0003103	Abnormal cortical bone morphology	5745	PTH1R	ORPHA:79106
HP:0003103	Abnormal cortical bone morphology	2200	FBN1	OMIM:608328
HP:0003103	Abnormal cortical bone morphology	8792	TNFRSF11A	OMIM:174810
HP:0003103	Abnormal cortical bone morphology	7421	VDR	OMIM:277440
HP:0003103	Abnormal cortical bone morphology	207	AKT1	OMIM:176920
HP:0003103	Abnormal cortical bone morphology	79639	TMEM53	OMIM:619727
HP:0003103	Abnormal cortical bone morphology	871	SERPINH1	OMIM:613848
HP:0003103	Abnormal cortical bone morphology	81794	ADAMTS10	OMIM:277600
HP:0003103	Abnormal cortical bone morphology	6335	SCN9A	ORPHA:970
HP:0003103	Abnormal cortical bone morphology	65125	WNK1	ORPHA:970
HP:0003103	Abnormal cortical bone morphology	54463	RETREG1	ORPHA:970
HP:0003103	Abnormal cortical bone morphology	547	KIF1A	ORPHA:970
HP:0003103	Abnormal cortical bone morphology	4041	LRP5	ORPHA:2790
HP:0003103	Abnormal cortical bone morphology	4041	LRP5	ORPHA:3416
HP:0003103	Abnormal cortical bone morphology	50814	NSDHL	OMIM:300831
HP:0003103	Abnormal cortical bone morphology	3977	LIFR	ORPHA:3206
HP:0003103	Abnormal cortical bone morphology	59341	TRPV4	ORPHA:2635
HP:0003103	Abnormal cortical bone morphology	9791	PTDSS1	ORPHA:2658
HP:0003103	Abnormal cortical bone morphology	2733	GLE1	ORPHA:1486
HP:0003103	Abnormal cortical bone morphology	5824	PEX19	OMIM:614886
HP:0003103	Abnormal cortical bone morphology	6916	TBXAS1	ORPHA:1802
HP:0003103	Abnormal cortical bone morphology	3248	HPGD	ORPHA:2796
HP:0003103	Abnormal cortical bone morphology	3248	HPGD	ORPHA:1525
HP:0003103	Abnormal cortical bone morphology	6578	SLCO2A1	ORPHA:2796
HP:0003103	Abnormal cortical bone morphology	2697	GJA1	ORPHA:2710
HP:0003103	Abnormal cortical bone morphology	9276	COPB2	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	11113	CIT	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	9928	KIF14	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	22995	CEP152	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	284403	WDR62	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	55262	TRAPPC14	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	163786	SASS6	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	29920	PYCR2	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	84879	MFSD2A	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	4176	MCM7	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	80254	CEP63	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	29081	METTL5	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	23310	NCAPD3	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	55755	CDK5RAP2	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	79648	MCPH1	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	6491	STIL	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	23141	ANKLE2	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	259266	ASPM	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	7109	TRAPPC10	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	1911	PHC1	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	6884	TAF13	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	9662	CEP135	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	55835	CENPJ	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	57082	KNL1	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	1021	CDK6	ORPHA:2512
HP:0003103	Abnormal cortical bone morphology	4038	LRP4	ORPHA:3152
HP:0003103	Abnormal cortical bone morphology	50964	SOST	ORPHA:3152
HP:0003103	Abnormal cortical bone morphology	50964	SOST	ORPHA:3416
HP:0003103	Abnormal cortical bone morphology	2316	FLNA	ORPHA:2484
HP:0003103	Abnormal cortical bone morphology	175	AGA	ORPHA:93
HP:0003103	Abnormal cortical bone morphology	23592	LEMD3	ORPHA:1879
HP:0003103	Abnormal cortical bone morphology	10312	TCIRG1	ORPHA:210110
HP:0003103	Abnormal cortical bone morphology	1186	CLCN7	ORPHA:210110
HP:0003103	Abnormal cortical bone morphology	9842	PLEKHM1	ORPHA:210110
HP:0003103	Abnormal cortical bone morphology	6522	SLC4A2	OMIM:620366
HP:0003103	Abnormal cortical bone morphology	1277	COL1A1	ORPHA:1310
HP:0003103	Abnormal cortical bone morphology	1277	COL1A1	OMIM:114000
HP:0003103	Abnormal cortical bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0003103	Abnormal cortical bone morphology	4125	MAN2B1	ORPHA:309282
HP:0003103	Abnormal cortical bone morphology	6905	TBCE	ORPHA:93324
HP:0003103	Abnormal cortical bone morphology	7040	TGFB1	ORPHA:1328
HP:0003103	Abnormal cortical bone morphology	7040	TGFB1	OMIM:131300
HP:0003103	Abnormal cortical bone morphology	63901	FAM111A	ORPHA:93325
HP:0003103	Abnormal cortical bone morphology	1758	DMP1	ORPHA:289176
HP:0003103	Abnormal cortical bone morphology	5167	ENPP1	ORPHA:289176
HP:0003102	Increased carrying angle	6473	SHOX	OMIM:127300
HP:0003102	Increased carrying angle	341208	HEPHL1	OMIM:261990
HP:0033763	Death in adulthood	4624	MYH6	OMIM:613251
HP:0033763	Death in adulthood	7137	TNNI3	OMIM:613286
HP:0033763	Death in adulthood	60	ACTB	ORPHA:79107
HP:0033763	Death in adulthood	4072	EPCAM	ORPHA:144
HP:0033763	Death in adulthood	4292	MLH1	ORPHA:144
HP:0033763	Death in adulthood	5395	PMS2	ORPHA:144
HP:0033763	Death in adulthood	27030	MLH3	ORPHA:144
HP:0033763	Death in adulthood	22909	FAN1	ORPHA:144
HP:0033763	Death in adulthood	7048	TGFBR2	ORPHA:144
HP:0033763	Death in adulthood	3845	KRAS	ORPHA:144
HP:0033763	Death in adulthood	5290	PIK3CA	ORPHA:144
HP:0033763	Death in adulthood	2956	MSH6	ORPHA:144
HP:0033763	Death in adulthood	5378	PMS1	ORPHA:144
HP:0033763	Death in adulthood	4436	MSH2	ORPHA:144
HP:0033763	Death in adulthood	27183	VPS4A	OMIM:619273
HP:0033763	Death in adulthood	1832	DSP	OMIM:605676
HP:0033763	Death in adulthood	6329	SCN4A	ORPHA:682
HP:0033763	Death in adulthood	10269	ZMPSTE24	OMIM:608612
HP:0033763	Death in adulthood	6197	RPS6KA3	ORPHA:192
HP:0033763	Death in adulthood	3918	LAMC2	OMIM:619786
HP:0033763	Death in adulthood	351	APP	ORPHA:100006
HP:0033763	Death in adulthood	10479	SLC9A6	ORPHA:85278
HP:0033763	Death in adulthood	1471	CST3	ORPHA:100008
HP:0033763	Death in adulthood	6804	STX1A	ORPHA:904
HP:0033763	Death in adulthood	7461	CLIP2	ORPHA:904
HP:0033763	Death in adulthood	84277	DNAJC30	ORPHA:904
HP:0033763	Death in adulthood	8468	FKBP6	ORPHA:904
HP:0033763	Death in adulthood	5982	RFC2	ORPHA:904
HP:0033763	Death in adulthood	2969	GTF2I	ORPHA:904
HP:0033763	Death in adulthood	3984	LIMK1	ORPHA:904
HP:0033763	Death in adulthood	9569	GTF2IRD1	ORPHA:904
HP:0033763	Death in adulthood	155382	VPS37D	ORPHA:904
HP:0033763	Death in adulthood	155368	METTL27	ORPHA:904
HP:0033763	Death in adulthood	114049	BUD23	ORPHA:904
HP:0033763	Death in adulthood	7458	EIF4H	ORPHA:904
HP:0033763	Death in adulthood	84163	GTF2IRD2	ORPHA:904
HP:0033763	Death in adulthood	9275	BCL7B	ORPHA:904
HP:0033763	Death in adulthood	26608	TBL2	ORPHA:904
HP:0033763	Death in adulthood	653361	NCF1	ORPHA:904
HP:0033763	Death in adulthood	135886	TMEM270	ORPHA:904
HP:0033763	Death in adulthood	51085	MLXIPL	ORPHA:904
HP:0033763	Death in adulthood	9031	BAZ1B	ORPHA:904
HP:0033763	Death in adulthood	2006	ELN	ORPHA:904
HP:0033763	Death in adulthood	4625	MYH7	OMIM:255160
HP:0033763	Death in adulthood	1890	TYMP	OMIM:603041
HP:0033763	Death in adulthood	5428	POLG	OMIM:603041
HP:0033763	Death in adulthood	617	BCS1L	ORPHA:53693
HP:0033763	Death in adulthood	55703	POLR3B	OMIM:607694
HP:0033763	Death in adulthood	11128	POLR3A	OMIM:607694
HP:0033764	Death in middle age	4624	MYH6	OMIM:613251
HP:0033764	Death in middle age	7137	TNNI3	OMIM:613286
HP:0033769	Fundic gland polyposis	324	APC	OMIM:619182
HP:0033769	Fundic gland polyposis	8313	AXIN2	OMIM:608615
HP:0003115	Abnormal EKG	1798	DPAGT1	ORPHA:86309
HP:0003115	Abnormal EKG	6535	SLC6A8	OMIM:300352
HP:0003115	Abnormal EKG	29925	GMPPB	OMIM:615351
HP:0003115	Abnormal EKG	2778	GNAS	ORPHA:94089
HP:0003115	Abnormal EKG	2778	GNAS	ORPHA:79443
HP:0003115	Abnormal EKG	2778	GNAS	ORPHA:79444
HP:0003115	Abnormal EKG	8675	STX16	ORPHA:94089
HP:0003115	Abnormal EKG	131118	DNAJC19	OMIM:610198
HP:0003115	Abnormal EKG	131118	DNAJC19	ORPHA:66634
HP:0003115	Abnormal EKG	3033	HADH	ORPHA:71212
HP:0003115	Abnormal EKG	2239	GPC4	ORPHA:373
HP:0003115	Abnormal EKG	2719	GPC3	ORPHA:373
HP:0003115	Abnormal EKG	8929	PHOX2B	ORPHA:2151
HP:0003115	Abnormal EKG	37	ACADVL	ORPHA:26793
HP:0003115	Abnormal EKG	57538	ALPK3	OMIM:618052
HP:0003115	Abnormal EKG	5718	PSMD12	ORPHA:529962
HP:0003115	Abnormal EKG	2186	BPTF	ORPHA:529962
HP:0003115	Abnormal EKG	6736	SRY	ORPHA:1772
HP:0003115	Abnormal EKG	284119	CAVIN1	OMIM:613327
HP:0003115	Abnormal EKG	1756	DMD	OMIM:300376
HP:0003115	Abnormal EKG	1756	DMD	OMIM:310200
HP:0003115	Abnormal EKG	1621	DBH	ORPHA:230
HP:0003115	Abnormal EKG	2395	FXN	OMIM:229300
HP:0003115	Abnormal EKG	128989	TANGO2	ORPHA:480864
HP:0003115	Abnormal EKG	8291	DYSF	ORPHA:268
HP:0003115	Abnormal EKG	7276	TTR	ORPHA:85451
HP:0003115	Abnormal EKG	1825	DSC3	OMIM:613102
HP:0003115	Abnormal EKG	4758	NEU1	ORPHA:93400
HP:0003115	Abnormal EKG	801	CALM1	ORPHA:101016
HP:0003115	Abnormal EKG	3753	KCNE1	ORPHA:101016
HP:0003115	Abnormal EKG	3762	KCNJ5	ORPHA:101016
HP:0003115	Abnormal EKG	3762	KCNJ5	ORPHA:37553
HP:0003115	Abnormal EKG	805	CALM2	ORPHA:101016
HP:0003115	Abnormal EKG	6910	TBX5	ORPHA:101016
HP:0003115	Abnormal EKG	6336	SCN10A	ORPHA:101016
HP:0003115	Abnormal EKG	3757	KCNH2	ORPHA:101016
HP:0003115	Abnormal EKG	9992	KCNE2	ORPHA:101016
HP:0003115	Abnormal EKG	10142	AKAP9	ORPHA:101016
HP:0003115	Abnormal EKG	9722	NOS1AP	ORPHA:101016
HP:0003115	Abnormal EKG	775	CACNA1C	ORPHA:101016
HP:0003115	Abnormal EKG	3784	KCNQ1	ORPHA:101016
HP:0003115	Abnormal EKG	10345	TRDN	ORPHA:101016
HP:0003115	Abnormal EKG	6331	SCN5A	ORPHA:101016
HP:0003115	Abnormal EKG	6330	SCN4B	ORPHA:101016
HP:0003115	Abnormal EKG	808	CALM3	ORPHA:101016
HP:0003115	Abnormal EKG	6640	SNTA1	ORPHA:101016
HP:0003115	Abnormal EKG	859	CAV3	ORPHA:101016
HP:0003115	Abnormal EKG	287	ANK2	ORPHA:101016
HP:0003115	Abnormal EKG	2972	BRF1	ORPHA:444072
HP:0003115	Abnormal EKG	80067	DCAF17	OMIM:241080
HP:0003115	Abnormal EKG	80067	DCAF17	ORPHA:3464
HP:0003115	Abnormal EKG	4204	MECP2	OMIM:312750
HP:0003115	Abnormal EKG	773	CACNA1A	ORPHA:2131
HP:0003115	Abnormal EKG	6507	SLC1A3	ORPHA:2131
HP:0003115	Abnormal EKG	477	ATP1A2	ORPHA:2131
HP:0003115	Abnormal EKG	478	ATP1A3	ORPHA:2131
HP:0003115	Abnormal EKG	6261	RYR1	ORPHA:466650
HP:0003115	Abnormal EKG	1188	CLCNKB	ORPHA:358
HP:0003115	Abnormal EKG	6559	SLC12A3	ORPHA:358
HP:0003115	Abnormal EKG	3759	KCNJ2	ORPHA:37553
HP:0003115	Abnormal EKG	4519	MT-CYB	ORPHA:137675
HP:0003115	Abnormal EKG	123263	MTFMT	OMIM:614947
HP:0003115	Abnormal EKG	100134444	KCNJ18	ORPHA:79102
HP:0003115	Abnormal EKG	2556	GABRA3	ORPHA:79102
HP:0003115	Abnormal EKG	779	CACNA1S	ORPHA:79102
HP:0003115	Abnormal EKG	83475	DOHH	OMIM:620066
HP:0003115	Abnormal EKG	253017	TECRL	OMIM:614021
HP:0003115	Abnormal EKG	2318	FLNC	OMIM:617047
HP:0003115	Abnormal EKG	51086	TNNI3K	OMIM:616117
HP:0003115	Abnormal EKG	144245	ALG10B	OMIM:613688
HP:0003115	Abnormal EKG	79188	TMEM43	OMIM:604400
HP:0003115	Abnormal EKG	3728	JUP	OMIM:601214
HP:0003115	Abnormal EKG	3728	JUP	OMIM:611528
HP:0003115	Abnormal EKG	10265	IRX5	OMIM:611174
HP:0003115	Abnormal EKG	2702	GJA5	OMIM:614049
HP:0003115	Abnormal EKG	4633	MYL2	OMIM:608758
HP:0003115	Abnormal EKG	1201	CLN3	ORPHA:228346
HP:0003115	Abnormal EKG	4634	MYL3	OMIM:608751
HP:0003115	Abnormal EKG	4221	MEN1	ORPHA:652
HP:0003115	Abnormal EKG	1027	CDKN1B	ORPHA:652
HP:0003115	Abnormal EKG	1026	CDKN1A	ORPHA:652
HP:0003115	Abnormal EKG	1030	CDKN2B	ORPHA:652
HP:0003115	Abnormal EKG	1031	CDKN2C	ORPHA:652
HP:0003115	Abnormal EKG	79577	CDC73	ORPHA:143
HP:0003115	Abnormal EKG	79577	CDC73	ORPHA:99880
HP:0003115	Abnormal EKG	783	CACNB2	OMIM:611876
HP:0003115	Abnormal EKG	781	CACNA2D1	ORPHA:51083
HP:0003115	Abnormal EKG	6508	SLC4A3	ORPHA:51083
HP:0003115	Abnormal EKG	6508	SLC4A3	OMIM:620231
HP:0003115	Abnormal EKG	6327	SCN2B	OMIM:615378
HP:0003115	Abnormal EKG	10681	GNB5	ORPHA:542306
HP:0003115	Abnormal EKG	23171	GPD1L	OMIM:611777
HP:0003115	Abnormal EKG	1482	NKX2-5	OMIM:108900
HP:0003115	Abnormal EKG	1829	DSG2	OMIM:610193
HP:0003115	Abnormal EKG	7092	TLL1	ORPHA:99106
HP:0003115	Abnormal EKG	3741	KCNA5	OMIM:612240
HP:0003115	Abnormal EKG	5894	RAF1	OMIM:615916
HP:0003115	Abnormal EKG	7134	TNNC1	OMIM:613243
HP:0003115	Abnormal EKG	57057	TBX20	ORPHA:99103
HP:0003115	Abnormal EKG	4624	MYH6	ORPHA:99103
HP:0003115	Abnormal EKG	70	ACTC1	ORPHA:99103
HP:0003115	Abnormal EKG	10370	CITED2	ORPHA:99103
HP:0003115	Abnormal EKG	2626	GATA4	ORPHA:99103
HP:0003115	Abnormal EKG	2627	GATA6	ORPHA:99103
HP:0003115	Abnormal EKG	23630	KCNE5	ORPHA:130
HP:0003115	Abnormal EKG	10371	SEMA3A	ORPHA:130
HP:0003115	Abnormal EKG	54795	TRPM4	ORPHA:130
HP:0003115	Abnormal EKG	10021	HCN4	ORPHA:130
HP:0003115	Abnormal EKG	10021	HCN4	OMIM:613123
HP:0003115	Abnormal EKG	3764	KCNJ8	ORPHA:130
HP:0003115	Abnormal EKG	3752	KCND3	ORPHA:130
HP:0003115	Abnormal EKG	3752	KCND3	OMIM:616399
HP:0003115	Abnormal EKG	5318	PKP2	ORPHA:130
HP:0003115	Abnormal EKG	7871	SLMAP	ORPHA:130
HP:0003115	Abnormal EKG	10060	ABCC9	ORPHA:130
HP:0003115	Abnormal EKG	29098	RANGRF	ORPHA:130
HP:0003115	Abnormal EKG	10008	KCNE3	ORPHA:130
HP:0003115	Abnormal EKG	10008	KCNE3	OMIM:613119
HP:0003115	Abnormal EKG	55800	SCN3B	ORPHA:130
HP:0003115	Abnormal EKG	55800	SCN3B	OMIM:613120
HP:0003115	Abnormal EKG	6337	SCNN1A	ORPHA:130
HP:0003115	Abnormal EKG	6324	SCN1B	ORPHA:130
HP:0003115	Abnormal EKG	6324	SCN1B	OMIM:612838
HP:0003115	Abnormal EKG	2992	GYG1	ORPHA:263297
HP:0003115	Abnormal EKG	2992	GYG1	OMIM:613507
HP:0003115	Abnormal EKG	5428	POLG	ORPHA:94125
HP:0003115	Abnormal EKG	776	CACNA1D	OMIM:614896
HP:0003115	Abnormal EKG	6840	SVIL	OMIM:619040
HP:0003115	Abnormal EKG	3920	LAMP2	OMIM:300257
HP:0003115	Abnormal EKG	2783	GNB2	OMIM:619464
HP:0003115	Abnormal EKG	4878	NPPA	ORPHA:1344
HP:0003115	Abnormal EKG	2010	EMD	OMIM:310300
HP:0003115	Abnormal EKG	2548	GAA	OMIM:232300
HP:0003115	Abnormal EKG	4625	MYH7	OMIM:255160
HP:0003115	Abnormal EKG	7139	TNNT2	OMIM:612422
HP:0003115	Abnormal EKG	51422	PRKAG2	OMIM:261740
HP:0003112	Abnormal circulating amino acid concentration	2731	GLDC	OMIM:605899
HP:0003112	Abnormal circulating amino acid concentration	275	AMT	OMIM:605899
HP:0003112	Abnormal circulating amino acid concentration	8802	SUCLG1	OMIM:245400
HP:0003112	Abnormal circulating amino acid concentration	100303755	PET117	OMIM:619063
HP:0003112	Abnormal circulating amino acid concentration	29968	PSAT1	ORPHA:284417
HP:0003112	Abnormal circulating amino acid concentration	27247	NFU1	OMIM:605711
HP:0003112	Abnormal circulating amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0003112	Abnormal circulating amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0003112	Abnormal circulating amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0003112	Abnormal circulating amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0003112	Abnormal circulating amino acid concentration	200205	IBA57	OMIM:615330
HP:0003112	Abnormal circulating amino acid concentration	55532	SLC30A10	ORPHA:309854
HP:0003112	Abnormal circulating amino acid concentration	388962	BOLA3	OMIM:614299
HP:0003112	Abnormal circulating amino acid concentration	51218	GLRX5	OMIM:616859
HP:0003112	Abnormal circulating amino acid concentration	326625	MMAB	OMIM:251110
HP:0003112	Abnormal circulating amino acid concentration	4594	MMUT	OMIM:251000
HP:0003112	Abnormal circulating amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0003112	Abnormal circulating amino acid concentration	166785	MMAA	OMIM:251100
HP:0003112	Abnormal circulating amino acid concentration	5095	PCCA	OMIM:606054
HP:0003112	Abnormal circulating amino acid concentration	5096	PCCB	OMIM:606054
HP:0003112	Abnormal circulating amino acid concentration	4552	MTRR	OMIM:236270
HP:0003112	Abnormal circulating amino acid concentration	4552	MTRR	ORPHA:2169
HP:0003112	Abnormal circulating amino acid concentration	6573	SLC19A1	OMIM:601775
HP:0003112	Abnormal circulating amino acid concentration	4522	MTHFD1	OMIM:617780
HP:0003112	Abnormal circulating amino acid concentration	3054	HCFC1	OMIM:309541
HP:0003112	Abnormal circulating amino acid concentration	51293	CD320	OMIM:613646
HP:0003112	Abnormal circulating amino acid concentration	5826	ABCD4	OMIM:614857
HP:0003112	Abnormal circulating amino acid concentration	4548	MTR	OMIM:250940
HP:0003112	Abnormal circulating amino acid concentration	27249	MMADHC	OMIM:277410
HP:0003112	Abnormal circulating amino acid concentration	84693	MCEE	OMIM:251120
HP:0003112	Abnormal circulating amino acid concentration	133686	NADK2	ORPHA:431361
HP:0003112	Abnormal circulating amino acid concentration	133686	NADK2	OMIM:616034
HP:0003112	Abnormal circulating amino acid concentration	435	ASL	ORPHA:23
HP:0003112	Abnormal circulating amino acid concentration	435	ASL	OMIM:207900
HP:0003112	Abnormal circulating amino acid concentration	445	ASS1	OMIM:215700
HP:0003112	Abnormal circulating amino acid concentration	2744	GLS	OMIM:618412
HP:0003112	Abnormal circulating amino acid concentration	3242	HPD	OMIM:276710
HP:0003112	Abnormal circulating amino acid concentration	3242	HPD	OMIM:140350
HP:0003112	Abnormal circulating amino acid concentration	6898	TAT	OMIM:276600
HP:0003112	Abnormal circulating amino acid concentration	617	BCS1L	OMIM:124000
HP:0003112	Abnormal circulating amino acid concentration	191	AHCY	OMIM:613752
HP:0003112	Abnormal circulating amino acid concentration	191	AHCY	ORPHA:88618
HP:0003112	Abnormal circulating amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0003112	Abnormal circulating amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0003112	Abnormal circulating amino acid concentration	132	ADK	OMIM:614300
HP:0003112	Abnormal circulating amino acid concentration	875	CBS	OMIM:236200
HP:0003112	Abnormal circulating amino acid concentration	4143	MAT1A	OMIM:250850
HP:0003112	Abnormal circulating amino acid concentration	2184	FAH	OMIM:276700
HP:0003112	Abnormal circulating amino acid concentration	27232	GNMT	OMIM:606664
HP:0003112	Abnormal circulating amino acid concentration	9652	SKIC3	OMIM:222470
HP:0003112	Abnormal circulating amino acid concentration	7019	TFAM	OMIM:617156
HP:0003112	Abnormal circulating amino acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0003112	Abnormal circulating amino acid concentration	1491	CTH	ORPHA:212
HP:0003112	Abnormal circulating amino acid concentration	55788	LMBRD1	OMIM:277380
HP:0003112	Abnormal circulating amino acid concentration	4524	MTHFR	ORPHA:395
HP:0003112	Abnormal circulating amino acid concentration	25974	MMACHC	OMIM:277400
HP:0003112	Abnormal circulating amino acid concentration	5052	PRDX1	OMIM:277400
HP:0003112	Abnormal circulating amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0003112	Abnormal circulating amino acid concentration	5091	PC	OMIM:266150
HP:0003112	Abnormal circulating amino acid concentration	51241	COX16	OMIM:619355
HP:0003112	Abnormal circulating amino acid concentration	55768	NGLY1	OMIM:615273
HP:0003112	Abnormal circulating amino acid concentration	26235	FBXL4	OMIM:615471
HP:0003112	Abnormal circulating amino acid concentration	54914	FOCAD	OMIM:619991
HP:0003112	Abnormal circulating amino acid concentration	498	ATP5F1A	OMIM:616045
HP:0003112	Abnormal circulating amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0003112	Abnormal circulating amino acid concentration	11222	MRPL3	OMIM:614582
HP:0003112	Abnormal circulating amino acid concentration	10059	DNM1L	OMIM:614388
HP:0003112	Abnormal circulating amino acid concentration	25821	MTO1	OMIM:614702
HP:0003112	Abnormal circulating amino acid concentration	90624	LYRM7	OMIM:615838
HP:0003112	Abnormal circulating amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0003112	Abnormal circulating amino acid concentration	57176	VARS2	OMIM:615917
HP:0003112	Abnormal circulating amino acid concentration	2203	FBP1	ORPHA:348
HP:0003112	Abnormal circulating amino acid concentration	80222	TARS2	OMIM:615918
HP:0003112	Abnormal circulating amino acid concentration	4535	MT-ND1	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4536	MT-ND2	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4537	MT-ND3	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4538	MT-ND4	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4567	MT-TL1	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4578	MT-TW	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4577	MT-TV	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4540	MT-ND5	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4541	MT-ND6	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	4566	MT-TK	ORPHA:255210
HP:0003112	Abnormal circulating amino acid concentration	8050	PDHX	OMIM:245349
HP:0003112	Abnormal circulating amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0003112	Abnormal circulating amino acid concentration	6341	SCO1	OMIM:619048
HP:0003112	Abnormal circulating amino acid concentration	7385	UQCRC2	OMIM:615160
HP:0003112	Abnormal circulating amino acid concentration	5160	PDHA1	OMIM:312170
HP:0003112	Abnormal circulating amino acid concentration	1352	COX10	OMIM:619046
HP:0003112	Abnormal circulating amino acid concentration	387787	LIPT2	OMIM:617668
HP:0003112	Abnormal circulating amino acid concentration	1841	DTYMK	OMIM:619847
HP:0003112	Abnormal circulating amino acid concentration	4285	MIPEP	OMIM:617228
HP:0003112	Abnormal circulating amino acid concentration	54931	TRMT10C	OMIM:616974
HP:0003112	Abnormal circulating amino acid concentration	5428	POLG	ORPHA:298
HP:0003112	Abnormal circulating amino acid concentration	1890	TYMP	ORPHA:298
HP:0003112	Abnormal circulating amino acid concentration	3980	LIG3	ORPHA:298
HP:0003112	Abnormal circulating amino acid concentration	50484	RRM2B	ORPHA:298
HP:0003112	Abnormal circulating amino acid concentration	1340	COX6B1	OMIM:619051
HP:0003112	Abnormal circulating amino acid concentration	90161	HS6ST2	OMIM:301025
HP:0003112	Abnormal circulating amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0003112	Abnormal circulating amino acid concentration	1351	COX8A	OMIM:619059
HP:0003112	Abnormal circulating amino acid concentration	51116	MRPS2	OMIM:617950
HP:0003112	Abnormal circulating amino acid concentration	125988	MICOS13	OMIM:618329
HP:0003112	Abnormal circulating amino acid concentration	4724	NDUFS4	OMIM:252010
HP:0003112	Abnormal circulating amino acid concentration	162417	NAGS	ORPHA:927
HP:0003112	Abnormal circulating amino acid concentration	51079	NDUFA13	OMIM:618249
HP:0003112	Abnormal circulating amino acid concentration	291	SLC25A4	OMIM:615418
HP:0003112	Abnormal circulating amino acid concentration	54704	PDP1	ORPHA:79246
HP:0003112	Abnormal circulating amino acid concentration	9377	COX5A	OMIM:619064
HP:0003112	Abnormal circulating amino acid concentration	55863	TMEM126B	OMIM:618250
HP:0003112	Abnormal circulating amino acid concentration	54968	TMEM70	OMIM:614052
HP:0003112	Abnormal circulating amino acid concentration	3735	KARS1	OMIM:619147
HP:0003112	Abnormal circulating amino acid concentration	63931	MRPS14	OMIM:618378
HP:0003112	Abnormal circulating amino acid concentration	9054	NFS1	OMIM:619386
HP:0003112	Abnormal circulating amino acid concentration	57017	COQ9	OMIM:614654
HP:0003112	Abnormal circulating amino acid concentration	84947	SERAC1	OMIM:614739
HP:0003112	Abnormal circulating amino acid concentration	3000	GUCY2D	OMIM:204000
HP:0003112	Abnormal circulating amino acid concentration	5009	OTC	OMIM:311250
HP:0003112	Abnormal circulating amino acid concentration	29960	MRM2	OMIM:618567
HP:0003112	Abnormal circulating amino acid concentration	1373	CPS1	OMIM:237300
HP:0003112	Abnormal circulating amino acid concentration	5105	PCK1	OMIM:261680
HP:0003112	Abnormal circulating amino acid concentration	10841	FTCD	OMIM:229100
HP:0003112	Abnormal circulating amino acid concentration	56922	MCCC1	ORPHA:6
HP:0003112	Abnormal circulating amino acid concentration	8942	KYNU	ORPHA:79155
HP:0003112	Abnormal circulating amino acid concentration	5805	PTS	OMIM:261640
HP:0003112	Abnormal circulating amino acid concentration	5860	QDPR	OMIM:261630
HP:0003112	Abnormal circulating amino acid concentration	3664	IRF6	ORPHA:1300
HP:0003112	Abnormal circulating amino acid concentration	2643	GCH1	ORPHA:98808
HP:0003112	Abnormal circulating amino acid concentration	2643	GCH1	OMIM:128230
HP:0003112	Abnormal circulating amino acid concentration	4929	NR4A2	ORPHA:98808
HP:0003112	Abnormal circulating amino acid concentration	3615	IMPDH2	ORPHA:98808
HP:0003112	Abnormal circulating amino acid concentration	5092	PCBD1	OMIM:264070
HP:0003112	Abnormal circulating amino acid concentration	6697	SPR	OMIM:612716
HP:0003112	Abnormal circulating amino acid concentration	1738	DLD	ORPHA:2394
HP:0003112	Abnormal circulating amino acid concentration	1629	DBT	OMIM:248600
HP:0003112	Abnormal circulating amino acid concentration	593	BCKDHA	OMIM:248600
HP:0003112	Abnormal circulating amino acid concentration	594	BCKDHB	OMIM:248600
HP:0003112	Abnormal circulating amino acid concentration	5625	PRODH	OMIM:600850
HP:0003112	Abnormal circulating amino acid concentration	5625	PRODH	OMIM:239500
HP:0003112	Abnormal circulating amino acid concentration	5625	PRODH	ORPHA:419
HP:0003112	Abnormal circulating amino acid concentration	51601	LIPT1	OMIM:616299
HP:0003112	Abnormal circulating amino acid concentration	10295	BCKDK	OMIM:614923
HP:0003112	Abnormal circulating amino acid concentration	55163	PNPO	ORPHA:79096
HP:0003112	Abnormal circulating amino acid concentration	1757	SARDH	ORPHA:3129
HP:0003112	Abnormal circulating amino acid concentration	1757	SARDH	OMIM:268900
HP:0003112	Abnormal circulating amino acid concentration	6888	TALDO1	ORPHA:101028
HP:0003112	Abnormal circulating amino acid concentration	131669	UROC1	ORPHA:210128
HP:0003112	Abnormal circulating amino acid concentration	3034	HAL	OMIM:235800
HP:0003112	Abnormal circulating amino acid concentration	3034	HAL	ORPHA:2157
HP:0003112	Abnormal circulating amino acid concentration	10367	MICU1	OMIM:615673
HP:0003112	Abnormal circulating amino acid concentration	64087	MCCC2	OMIM:210210
HP:0003112	Abnormal circulating amino acid concentration	152926	PPM1K	OMIM:615135
HP:0003112	Abnormal circulating amino acid concentration	587	BCAT2	OMIM:618850
HP:0003112	Abnormal circulating amino acid concentration	506	ATP5F1B	OMIM:620085
HP:0003112	Abnormal circulating amino acid concentration	4942	OAT	OMIM:258870
HP:0003112	Abnormal circulating amino acid concentration	4942	OAT	ORPHA:414
HP:0003112	Abnormal circulating amino acid concentration	10166	SLC25A15	ORPHA:415
HP:0003112	Abnormal circulating amino acid concentration	10166	SLC25A15	OMIM:238970
HP:0003112	Abnormal circulating amino acid concentration	5723	PSPH	ORPHA:79350
HP:0003112	Abnormal circulating amino acid concentration	5723	PSPH	OMIM:614023
HP:0003112	Abnormal circulating amino acid concentration	26227	PHGDH	ORPHA:79351
HP:0003112	Abnormal circulating amino acid concentration	29958	DMGDH	OMIM:605850
HP:0003112	Abnormal circulating amino acid concentration	443	ASPA	OMIM:271900
HP:0003112	Abnormal circulating amino acid concentration	2593	GAMT	OMIM:612736
HP:0003112	Abnormal circulating amino acid concentration	51733	UPB1	OMIM:613161
HP:0003112	Abnormal circulating amino acid concentration	5053	PAH	OMIM:261600
HP:0003112	Abnormal circulating amino acid concentration	54532	USP53	OMIM:619658
HP:0003112	Abnormal circulating amino acid concentration	7915	ALDH5A1	OMIM:271980
HP:0003112	Abnormal circulating amino acid concentration	4353	MPO	OMIM:104300
HP:0003112	Abnormal circulating amino acid concentration	4846	NOS3	OMIM:104300
HP:0003112	Abnormal circulating amino acid concentration	3077	HFE	OMIM:104300
HP:0003112	Abnormal circulating amino acid concentration	351	APP	OMIM:104300
HP:0003112	Abnormal circulating amino acid concentration	5328	PLAU	OMIM:104300
HP:0003112	Abnormal circulating amino acid concentration	6999	TDO2	OMIM:600627
HP:0003112	Abnormal circulating amino acid concentration	2752	GLUL	OMIM:610015
HP:0003112	Abnormal circulating amino acid concentration	4190	MDH1	OMIM:618959
HP:0003112	Abnormal circulating amino acid concentration	4780	NFE2L2	OMIM:617744
HP:0003112	Abnormal circulating amino acid concentration	10243	GPHN	OMIM:615501
HP:0003112	Abnormal circulating amino acid concentration	383	ARG1	OMIM:207800
HP:0003112	Abnormal circulating amino acid concentration	10157	AASS	ORPHA:2203
HP:0003112	Abnormal circulating amino acid concentration	763	CA5A	OMIM:615751
HP:0003112	Abnormal circulating amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0003113	Hypochloremia	10916	MAGED2	OMIM:300971
HP:0003113	Hypochloremia	6557	SLC12A1	OMIM:601678
HP:0003113	Hypochloremia	7809	BSND	ORPHA:89938
HP:0003113	Hypochloremia	7809	BSND	OMIM:602522
HP:0003113	Hypochloremia	1188	CLCNKB	ORPHA:89938
HP:0003113	Hypochloremia	1188	CLCNKB	OMIM:613090
HP:0003113	Hypochloremia	1187	CLCNKA	ORPHA:89938
HP:0003113	Hypochloremia	1187	CLCNKA	OMIM:613090
HP:0003113	Hypochloremia	1811	SLC26A3	OMIM:214700
HP:0003113	Hypochloremia	3758	KCNJ1	OMIM:241200
HP:0003111	Abnormal blood ion concentration	229	ALDOB	OMIM:229600
HP:0003111	Abnormal blood ion concentration	229	ALDOB	ORPHA:469
HP:0003111	Abnormal blood ion concentration	9368	NHERF1	OMIM:612287
HP:0003111	Abnormal blood ion concentration	3636	INPPL1	OMIM:258480
HP:0003111	Abnormal blood ion concentration	56975	FAM20C	OMIM:259775
HP:0003111	Abnormal blood ion concentration	1285	COL4A3	OMIM:104200
HP:0003111	Abnormal blood ion concentration	5076	PAX2	ORPHA:97362
HP:0003111	Abnormal blood ion concentration	5087	PBX1	ORPHA:97362
HP:0003111	Abnormal blood ion concentration	4791	NFKB2	ORPHA:293978
HP:0003111	Abnormal blood ion concentration	5447	POR	OMIM:201750
HP:0003111	Abnormal blood ion concentration	6261	RYR1	ORPHA:466650
HP:0003111	Abnormal blood ion concentration	6261	RYR1	ORPHA:423
HP:0003111	Abnormal blood ion concentration	6261	RYR1	OMIM:145600
HP:0003111	Abnormal blood ion concentration	10058	ABCB6	ORPHA:90044
HP:0003111	Abnormal blood ion concentration	10058	ABCB6	OMIM:609153
HP:0003111	Abnormal blood ion concentration	100134444	KCNJ18	ORPHA:79102
HP:0003111	Abnormal blood ion concentration	2556	GABRA3	ORPHA:79102
HP:0003111	Abnormal blood ion concentration	779	CACNA1S	ORPHA:79102
HP:0003111	Abnormal blood ion concentration	779	CACNA1S	ORPHA:423
HP:0003111	Abnormal blood ion concentration	23175	LPIN1	OMIM:268200
HP:0003111	Abnormal blood ion concentration	23175	LPIN1	ORPHA:99845
HP:0003111	Abnormal blood ion concentration	6340	SCNN1G	ORPHA:171876
HP:0003111	Abnormal blood ion concentration	6340	SCNN1G	OMIM:620126
HP:0003111	Abnormal blood ion concentration	6337	SCNN1A	ORPHA:171876
HP:0003111	Abnormal blood ion concentration	6337	SCNN1A	OMIM:264350
HP:0003111	Abnormal blood ion concentration	6338	SCNN1B	ORPHA:171876
HP:0003111	Abnormal blood ion concentration	6338	SCNN1B	OMIM:620125
HP:0003111	Abnormal blood ion concentration	4306	NR3C2	OMIM:177735
HP:0003111	Abnormal blood ion concentration	4512	MT-CO1	ORPHA:99845
HP:0003111	Abnormal blood ion concentration	4514	MT-CO3	ORPHA:99845
HP:0003111	Abnormal blood ion concentration	6513	SLC2A1	OMIM:608885
HP:0003111	Abnormal blood ion concentration	3284	HSD3B2	ORPHA:90791
HP:0003111	Abnormal blood ion concentration	3284	HSD3B2	OMIM:201810
HP:0003111	Abnormal blood ion concentration	771	CA12	OMIM:143860
HP:0003111	Abnormal blood ion concentration	9095	TBX19	ORPHA:199296
HP:0003111	Abnormal blood ion concentration	6329	SCN4A	OMIM:170500
HP:0003111	Abnormal blood ion concentration	6329	SCN4A	ORPHA:682
HP:0003111	Abnormal blood ion concentration	10463	SLC30A9	OMIM:617595
HP:0003111	Abnormal blood ion concentration	11232	POLG2	OMIM:618528
HP:0003111	Abnormal blood ion concentration	1583	CYP11A1	ORPHA:168558
HP:0003111	Abnormal blood ion concentration	1583	CYP11A1	ORPHA:289548
HP:0003111	Abnormal blood ion concentration	1585	CYP11B2	OMIM:203400
HP:0003111	Abnormal blood ion concentration	1585	CYP11B2	OMIM:610600
HP:0003111	Abnormal blood ion concentration	1585	CYP11B2	ORPHA:556030
HP:0003111	Abnormal blood ion concentration	6522	SLC4A2	OMIM:620366
HP:0003111	Abnormal blood ion concentration	226	ALDOA	ORPHA:57
HP:0003111	Abnormal blood ion concentration	56246	MRAP	ORPHA:361
HP:0003111	Abnormal blood ion concentration	6770	STAR	ORPHA:361
HP:0003111	Abnormal blood ion concentration	4158	MC2R	ORPHA:361
HP:0003111	Abnormal blood ion concentration	23530	NNT	ORPHA:361
HP:0003111	Abnormal blood ion concentration	23530	NNT	OMIM:614736
HP:0003111	Abnormal blood ion concentration	10587	TXNRD2	ORPHA:361
HP:0003111	Abnormal blood ion concentration	65266	WNK4	OMIM:614491
HP:0003111	Abnormal blood ion concentration	65125	WNK1	OMIM:614492
HP:0003111	Abnormal blood ion concentration	26249	KLHL3	OMIM:614495
HP:0003111	Abnormal blood ion concentration	8452	CUL3	OMIM:614496
HP:0003111	Abnormal blood ion concentration	27130	INVS	OMIM:602088
HP:0003111	Abnormal blood ion concentration	1594	CYP27B1	OMIM:264700
HP:0003111	Abnormal blood ion concentration	1594	CYP27B1	ORPHA:289157
HP:0003111	Abnormal blood ion concentration	120227	CYP2R1	ORPHA:289157
HP:0003111	Abnormal blood ion concentration	2625	GATA3	ORPHA:2237
HP:0003111	Abnormal blood ion concentration	7421	VDR	OMIM:277440
HP:0003111	Abnormal blood ion concentration	5741	PTH	OMIM:146200
HP:0003111	Abnormal blood ion concentration	5311	PKD2	OMIM:613095
HP:0003111	Abnormal blood ion concentration	776	CACNA1D	OMIM:615474
HP:0003111	Abnormal blood ion concentration	776	CACNA1D	ORPHA:369929
HP:0003111	Abnormal blood ion concentration	6521	SLC4A1	OMIM:611590
HP:0003111	Abnormal blood ion concentration	6521	SLC4A1	OMIM:179800
HP:0003111	Abnormal blood ion concentration	3643	INSR	ORPHA:508
HP:0003111	Abnormal blood ion concentration	3643	INSR	ORPHA:769
HP:0003111	Abnormal blood ion concentration	3291	HSD11B2	OMIM:218030
HP:0003111	Abnormal blood ion concentration	3291	HSD11B2	ORPHA:320
HP:0003111	Abnormal blood ion concentration	2908	NR3C1	ORPHA:786
HP:0003111	Abnormal blood ion concentration	3766	KCNJ10	ORPHA:199343
HP:0003111	Abnormal blood ion concentration	3766	KCNJ10	OMIM:612780
HP:0003111	Abnormal blood ion concentration	6514	SLC2A2	OMIM:227810
HP:0003111	Abnormal blood ion concentration	1584	CYP11B1	OMIM:202010
HP:0003111	Abnormal blood ion concentration	1584	CYP11B1	ORPHA:90795
HP:0003111	Abnormal blood ion concentration	1584	CYP11B1	ORPHA:403
HP:0003111	Abnormal blood ion concentration	476	ATP1A1	OMIM:618314
HP:0003111	Abnormal blood ion concentration	866	SERPINA6	OMIM:611489
HP:0003111	Abnormal blood ion concentration	1586	CYP17A1	ORPHA:90793
HP:0003111	Abnormal blood ion concentration	801	CALM1	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	3753	KCNE1	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	3762	KCNJ5	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	3762	KCNJ5	OMIM:613677
HP:0003111	Abnormal blood ion concentration	3762	KCNJ5	ORPHA:251274
HP:0003111	Abnormal blood ion concentration	805	CALM2	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	6910	TBX5	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	6336	SCN10A	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	3757	KCNH2	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	9992	KCNE2	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	10142	AKAP9	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	9722	NOS1AP	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	775	CACNA1C	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	3784	KCNQ1	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	10345	TRDN	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	6331	SCN5A	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	6330	SCN4B	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	808	CALM3	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	6640	SNTA1	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	859	CAV3	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	287	ANK2	ORPHA:101016
HP:0003111	Abnormal blood ion concentration	8671	SLC4A4	OMIM:604278
HP:0003111	Abnormal blood ion concentration	486	FXYD2	OMIM:154020
HP:0003111	Abnormal blood ion concentration	9071	CLDN10	OMIM:617671
HP:0003111	Abnormal blood ion concentration	55898	UNC45A	OMIM:619377
HP:0003111	Abnormal blood ion concentration	4089	SMAD4	OMIM:174900
HP:0003111	Abnormal blood ion concentration	657	BMPR1A	OMIM:174900
HP:0003111	Abnormal blood ion concentration	50619	DEF6	OMIM:619573
HP:0003111	Abnormal blood ion concentration	3759	KCNJ2	OMIM:170390
HP:0003111	Abnormal blood ion concentration	1181	CLCN2	ORPHA:404
HP:0003111	Abnormal blood ion concentration	1181	CLCN2	OMIM:605635
HP:0003111	Abnormal blood ion concentration	84133	ZNRF3	ORPHA:1501
HP:0003111	Abnormal blood ion concentration	7157	TP53	ORPHA:1501
HP:0003111	Abnormal blood ion concentration	1499	CTNNB1	ORPHA:1501
HP:0003111	Abnormal blood ion concentration	1029	CDKN2A	ORPHA:1501
HP:0003111	Abnormal blood ion concentration	7015	TERT	ORPHA:1501
HP:0003111	Abnormal blood ion concentration	50617	ATP6V0A4	OMIM:602722
HP:0003111	Abnormal blood ion concentration	1281	COL3A1	ORPHA:286
HP:0003111	Abnormal blood ion concentration	64072	CDH23	ORPHA:91347
HP:0003111	Abnormal blood ion concentration	6559	SLC12A3	OMIM:263800
HP:0003111	Abnormal blood ion concentration	6559	SLC12A3	ORPHA:358
HP:0003111	Abnormal blood ion concentration	9049	AIP	OMIM:219090
HP:0003111	Abnormal blood ion concentration	9101	USP8	OMIM:219090
HP:0003111	Abnormal blood ion concentration	1576	CYP3A4	OMIM:619073
HP:0003111	Abnormal blood ion concentration	10312	TCIRG1	ORPHA:210110
HP:0003111	Abnormal blood ion concentration	10312	TCIRG1	OMIM:259700
HP:0003111	Abnormal blood ion concentration	10312	TCIRG1	ORPHA:667
HP:0003111	Abnormal blood ion concentration	1186	CLCN7	ORPHA:210110
HP:0003111	Abnormal blood ion concentration	1186	CLCN7	ORPHA:667
HP:0003111	Abnormal blood ion concentration	1186	CLCN7	ORPHA:53
HP:0003111	Abnormal blood ion concentration	9842	PLEKHM1	ORPHA:210110
HP:0003111	Abnormal blood ion concentration	9508	ADAMTS3	ORPHA:2136
HP:0003111	Abnormal blood ion concentration	147372	CCBE1	ORPHA:2136
HP:0003111	Abnormal blood ion concentration	79633	FAT4	ORPHA:2136
HP:0003111	Abnormal blood ion concentration	857	CAV1	OMIM:612526
HP:0003111	Abnormal blood ion concentration	3032	HADHB	ORPHA:746
HP:0003111	Abnormal blood ion concentration	3030	HADHA	ORPHA:746
HP:0003111	Abnormal blood ion concentration	10056	FARSB	OMIM:613658
HP:0003111	Abnormal blood ion concentration	29887	SNX10	ORPHA:667
HP:0003111	Abnormal blood ion concentration	8600	TNFSF11	ORPHA:667
HP:0003111	Abnormal blood ion concentration	197131	UBR1	OMIM:243800
HP:0003111	Abnormal blood ion concentration	1436	CSF1R	OMIM:618476
HP:0003111	Abnormal blood ion concentration	84876	ORAI1	OMIM:615883
HP:0003111	Abnormal blood ion concentration	9993	DGCR2	OMIM:192430
HP:0003111	Abnormal blood ion concentration	8220	ESS2	OMIM:192430
HP:0003111	Abnormal blood ion concentration	8214	DGCR6	OMIM:192430
HP:0003111	Abnormal blood ion concentration	54487	DGCR8	OMIM:192430
HP:0003111	Abnormal blood ion concentration	6899	TBX1	OMIM:192430
HP:0003111	Abnormal blood ion concentration	6899	TBX1	ORPHA:567
HP:0003111	Abnormal blood ion concentration	6899	TBX1	OMIM:188400
HP:0003111	Abnormal blood ion concentration	5495	PPM1B	ORPHA:163693
HP:0003111	Abnormal blood ion concentration	6519	SLC3A1	ORPHA:163693
HP:0003111	Abnormal blood ion concentration	9581	PREPL	ORPHA:163693
HP:0003111	Abnormal blood ion concentration	79823	CAMKMT	ORPHA:163693
HP:0003111	Abnormal blood ion concentration	140803	TRPM6	OMIM:602014
HP:0003111	Abnormal blood ion concentration	695	BTK	ORPHA:47
HP:0003111	Abnormal blood ion concentration	6023	RMRP	ORPHA:175
HP:0003111	Abnormal blood ion concentration	54532	USP53	OMIM:619658
HP:0003111	Abnormal blood ion concentration	3117	HLA-DQA1	OMIM:212750
HP:0003111	Abnormal blood ion concentration	3119	HLA-DQB1	OMIM:212750
HP:0003111	Abnormal blood ion concentration	1312	COMT	ORPHA:567
HP:0003111	Abnormal blood ion concentration	221037	JMJD1C	ORPHA:567
HP:0003111	Abnormal blood ion concentration	2812	GP1BB	ORPHA:567
HP:0003111	Abnormal blood ion concentration	6239	RREB1	ORPHA:567
HP:0003111	Abnormal blood ion concentration	7290	HIRA	ORPHA:567
HP:0003111	Abnormal blood ion concentration	9632	SEC24C	ORPHA:567
HP:0003111	Abnormal blood ion concentration	7353	UFD1	ORPHA:567
HP:0003111	Abnormal blood ion concentration	421	ARVCF	ORPHA:567
HP:0003111	Abnormal blood ion concentration	55764	IFT122	OMIM:218330
HP:0003111	Abnormal blood ion concentration	28962	OSTM1	OMIM:259720
HP:0003111	Abnormal blood ion concentration	37	ACADVL	ORPHA:26793
HP:0003111	Abnormal blood ion concentration	55636	CHD7	OMIM:214800
HP:0003111	Abnormal blood ion concentration	2783	GNB2	OMIM:619503
HP:0003111	Abnormal blood ion concentration	760	CA2	ORPHA:2785
HP:0003111	Abnormal blood ion concentration	83483	PLVAP	OMIM:618183
HP:0003111	Abnormal blood ion concentration	54914	FOCAD	OMIM:619991
HP:0003111	Abnormal blood ion concentration	8518	ELP1	ORPHA:1764
HP:0003111	Abnormal blood ion concentration	8021	NUP214	OMIM:618426
HP:0003111	Abnormal blood ion concentration	10102	TSFM	OMIM:610505
HP:0003111	Abnormal blood ion concentration	5551	PRF1	OMIM:603553
HP:0003111	Abnormal blood ion concentration	190	NR0B1	OMIM:300200
HP:0003111	Abnormal blood ion concentration	3662	IRF4	ORPHA:3452
HP:0003111	Abnormal blood ion concentration	471	ATIC	OMIM:608688
HP:0003111	Abnormal blood ion concentration	4952	OCRL	ORPHA:534
HP:0003111	Abnormal blood ion concentration	199221	DZIP1L	ORPHA:731
HP:0003111	Abnormal blood ion concentration	5314	PKHD1	ORPHA:731
HP:0003111	Abnormal blood ion concentration	58528	RRAGD	OMIM:620152
HP:0003111	Abnormal blood ion concentration	210	ALAD	ORPHA:100924
HP:0003111	Abnormal blood ion concentration	50628	GEMIN4	OMIM:617913
HP:0003111	Abnormal blood ion concentration	51567	TDP2	OMIM:616949
HP:0003111	Abnormal blood ion concentration	79087	ALG12	ORPHA:79324
HP:0003111	Abnormal blood ion concentration	9451	EIF2AK3	ORPHA:1667
HP:0003111	Abnormal blood ion concentration	79053	ALG8	ORPHA:79325
HP:0003111	Abnormal blood ion concentration	1130	LYST	ORPHA:167
HP:0003111	Abnormal blood ion concentration	4714	NDUFB8	OMIM:618252
HP:0003111	Abnormal blood ion concentration	1371	CPOX	ORPHA:79273
HP:0003111	Abnormal blood ion concentration	5498	PPOX	ORPHA:79473
HP:0003111	Abnormal blood ion concentration	54938	SARS2	OMIM:613845
HP:0003111	Abnormal blood ion concentration	3145	HMBS	ORPHA:79276
HP:0003111	Abnormal blood ion concentration	7187	TRAF3	ORPHA:1930
HP:0003111	Abnormal blood ion concentration	81622	UNC93B1	ORPHA:1930
HP:0003111	Abnormal blood ion concentration	148022	TICAM1	ORPHA:1930
HP:0003111	Abnormal blood ion concentration	7098	TLR3	ORPHA:1930
HP:0003111	Abnormal blood ion concentration	29110	TBK1	ORPHA:1930
HP:0003111	Abnormal blood ion concentration	5573	PRKAR1A	ORPHA:280651
HP:0003111	Abnormal blood ion concentration	5573	PRKAR1A	OMIM:101800
HP:0003111	Abnormal blood ion concentration	5144	PDE4D	ORPHA:280651
HP:0003111	Abnormal blood ion concentration	4982	TNFRSF11B	OMIM:239000
HP:0003111	Abnormal blood ion concentration	149775	GNAS-AS1	OMIM:603233
HP:0003111	Abnormal blood ion concentration	1621	DBH	OMIM:223360
HP:0003111	Abnormal blood ion concentration	1950	EGF	OMIM:611718
HP:0003111	Abnormal blood ion concentration	54805	CNNM2	OMIM:613882
HP:0003111	Abnormal blood ion concentration	54805	CNNM2	OMIM:616418
HP:0003111	Abnormal blood ion concentration	7074	TIAM1	OMIM:619908
HP:0003111	Abnormal blood ion concentration	5092	PCBD1	ORPHA:1578
HP:0003111	Abnormal blood ion concentration	3939	LDHA	ORPHA:284426
HP:0003111	Abnormal blood ion concentration	595	CCND1	ORPHA:29073
HP:0003111	Abnormal blood ion concentration	51604	PIGT	ORPHA:369837
HP:0003111	Abnormal blood ion concentration	6569	SLC34A1	OMIM:616963
HP:0003111	Abnormal blood ion concentration	55654	TMEM127	OMIM:171300
HP:0003111	Abnormal blood ion concentration	55654	TMEM127	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	5979	RET	OMIM:171300
HP:0003111	Abnormal blood ion concentration	5979	RET	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	5979	RET	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	6390	SDHB	OMIM:171300
HP:0003111	Abnormal blood ion concentration	6390	SDHB	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	6390	SDHB	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	6392	SDHD	OMIM:171300
HP:0003111	Abnormal blood ion concentration	6392	SDHD	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	6392	SDHD	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	4149	MAX	OMIM:171300
HP:0003111	Abnormal blood ion concentration	4149	MAX	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	7428	VHL	OMIM:171300
HP:0003111	Abnormal blood ion concentration	7428	VHL	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	7428	VHL	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	1743	DLST	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	4191	MDH2	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	6389	SDHA	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	23095	KIF1B	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	2271	FH	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	8402	SLC25A11	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	54949	SDHAF2	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	4763	NF1	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	6391	SDHC	ORPHA:29072
HP:0003111	Abnormal blood ion concentration	6804	STX1A	ORPHA:904
HP:0003111	Abnormal blood ion concentration	7461	CLIP2	ORPHA:904
HP:0003111	Abnormal blood ion concentration	84277	DNAJC30	ORPHA:904
HP:0003111	Abnormal blood ion concentration	8468	FKBP6	ORPHA:904
HP:0003111	Abnormal blood ion concentration	5982	RFC2	ORPHA:904
HP:0003111	Abnormal blood ion concentration	2969	GTF2I	ORPHA:904
HP:0003111	Abnormal blood ion concentration	3984	LIMK1	ORPHA:904
HP:0003111	Abnormal blood ion concentration	9569	GTF2IRD1	ORPHA:904
HP:0003111	Abnormal blood ion concentration	155382	VPS37D	ORPHA:904
HP:0003111	Abnormal blood ion concentration	155368	METTL27	ORPHA:904
HP:0003111	Abnormal blood ion concentration	114049	BUD23	ORPHA:904
HP:0003111	Abnormal blood ion concentration	7458	EIF4H	ORPHA:904
HP:0003111	Abnormal blood ion concentration	84163	GTF2IRD2	ORPHA:904
HP:0003111	Abnormal blood ion concentration	9275	BCL7B	ORPHA:904
HP:0003111	Abnormal blood ion concentration	26608	TBL2	ORPHA:904
HP:0003111	Abnormal blood ion concentration	653361	NCF1	ORPHA:904
HP:0003111	Abnormal blood ion concentration	135886	TMEM270	ORPHA:904
HP:0003111	Abnormal blood ion concentration	51085	MLXIPL	ORPHA:904
HP:0003111	Abnormal blood ion concentration	51085	MLXIPL	OMIM:194050
HP:0003111	Abnormal blood ion concentration	9031	BAZ1B	ORPHA:904
HP:0003111	Abnormal blood ion concentration	2006	ELN	ORPHA:904
HP:0003111	Abnormal blood ion concentration	2006	ELN	OMIM:194050
HP:0003111	Abnormal blood ion concentration	64324	NSD1	ORPHA:821
HP:0003111	Abnormal blood ion concentration	29072	SETD2	ORPHA:821
HP:0003111	Abnormal blood ion concentration	10297	APC2	ORPHA:821
HP:0003111	Abnormal blood ion concentration	79577	CDC73	ORPHA:143
HP:0003111	Abnormal blood ion concentration	79577	CDC73	OMIM:145000
HP:0003111	Abnormal blood ion concentration	79577	CDC73	OMIM:145001
HP:0003111	Abnormal blood ion concentration	79577	CDC73	ORPHA:99880
HP:0003111	Abnormal blood ion concentration	79577	CDC73	ORPHA:99879
HP:0003111	Abnormal blood ion concentration	79577	CDC73	OMIM:608266
HP:0003111	Abnormal blood ion concentration	249	ALPL	OMIM:241500
HP:0003111	Abnormal blood ion concentration	7204	TRIO	ORPHA:476126
HP:0003111	Abnormal blood ion concentration	9247	GCM2	OMIM:617343
HP:0003111	Abnormal blood ion concentration	9247	GCM2	ORPHA:99879
HP:0003111	Abnormal blood ion concentration	6523	SLC5A1	ORPHA:35710
HP:0003111	Abnormal blood ion concentration	4221	MEN1	ORPHA:652
HP:0003111	Abnormal blood ion concentration	4221	MEN1	OMIM:131100
HP:0003111	Abnormal blood ion concentration	4221	MEN1	ORPHA:99879
HP:0003111	Abnormal blood ion concentration	1027	CDKN1B	ORPHA:652
HP:0003111	Abnormal blood ion concentration	1027	CDKN1B	ORPHA:276152
HP:0003111	Abnormal blood ion concentration	1026	CDKN1A	ORPHA:652
HP:0003111	Abnormal blood ion concentration	1030	CDKN2B	ORPHA:652
HP:0003111	Abnormal blood ion concentration	1031	CDKN2C	ORPHA:652
HP:0003111	Abnormal blood ion concentration	4854	NOTCH3	ORPHA:2591
HP:0003111	Abnormal blood ion concentration	5745	PTH1R	OMIM:156400
HP:0003111	Abnormal blood ion concentration	9365	KL	OMIM:617994
HP:0003111	Abnormal blood ion concentration	5286	PIK3C2A	OMIM:618440
HP:0003111	Abnormal blood ion concentration	5286	PIK3C2A	ORPHA:557003
HP:0003111	Abnormal blood ion concentration	2591	GALNT3	OMIM:211900
HP:0003111	Abnormal blood ion concentration	1788	DNMT3A	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	2034	EPAS1	ORPHA:276621
HP:0003111	Abnormal blood ion concentration	1175	AP2S1	OMIM:600740
HP:0003111	Abnormal blood ion concentration	846	CASR	OMIM:145980
HP:0003111	Abnormal blood ion concentration	846	CASR	OMIM:239200
HP:0003111	Abnormal blood ion concentration	2767	GNA11	OMIM:145981
HP:0003111	Abnormal blood ion concentration	1591	CYP24A1	OMIM:143880
HP:0003111	Abnormal blood ion concentration	8792	TNFRSF11A	OMIM:602080
HP:0003111	Abnormal blood ion concentration	1028	CDKN1C	OMIM:614732
HP:0003111	Abnormal blood ion concentration	56244	BTNL2	ORPHA:797
HP:0003111	Abnormal blood ion concentration	3123	HLA-DRB1	ORPHA:797
HP:0003111	Abnormal blood ion concentration	3909	LAMA3	ORPHA:79404
HP:0003111	Abnormal blood ion concentration	3918	LAMC2	ORPHA:79404
HP:0003111	Abnormal blood ion concentration	3914	LAMB3	ORPHA:79404
HP:0003111	Abnormal blood ion concentration	50943	FOXP3	ORPHA:37042
HP:0003111	Abnormal blood ion concentration	1497	CTNS	ORPHA:411629
HP:0003111	Abnormal blood ion concentration	10916	MAGED2	OMIM:300971
HP:0003111	Abnormal blood ion concentration	6557	SLC12A1	OMIM:601678
HP:0003111	Abnormal blood ion concentration	7809	BSND	ORPHA:89938
HP:0003111	Abnormal blood ion concentration	7809	BSND	OMIM:602522
HP:0003111	Abnormal blood ion concentration	1188	CLCNKB	ORPHA:89938
HP:0003111	Abnormal blood ion concentration	1188	CLCNKB	OMIM:613090
HP:0003111	Abnormal blood ion concentration	1187	CLCNKA	ORPHA:89938
HP:0003111	Abnormal blood ion concentration	1187	CLCNKA	OMIM:613090
HP:0003111	Abnormal blood ion concentration	1811	SLC26A3	OMIM:214700
HP:0003111	Abnormal blood ion concentration	3758	KCNJ1	OMIM:241200
HP:0003111	Abnormal blood ion concentration	6850	SYK	OMIM:619381
HP:0003111	Abnormal blood ion concentration	554	AVPR2	ORPHA:223
HP:0003111	Abnormal blood ion concentration	554	AVPR2	OMIM:304800
HP:0003111	Abnormal blood ion concentration	359	AQP2	ORPHA:223
HP:0003111	Abnormal blood ion concentration	359	AQP2	OMIM:125800
HP:0003111	Abnormal blood ion concentration	2260	FGFR1	OMIM:615465
HP:0003111	Abnormal blood ion concentration	763	CA5A	OMIM:615751
HP:0003111	Abnormal blood ion concentration	1828	DSG1	OMIM:615508
HP:0003111	Abnormal blood ion concentration	9915	ARNT2	OMIM:615926
HP:0003111	Abnormal blood ion concentration	9493	KIF23	ORPHA:98870
HP:0003111	Abnormal blood ion concentration	29127	RACGAP1	ORPHA:98870
HP:0003111	Abnormal blood ion concentration	9652	SKIC3	OMIM:222470
HP:0003111	Abnormal blood ion concentration	4891	SLC11A2	OMIM:206100
HP:0003111	Abnormal blood ion concentration	650	BMP2	OMIM:235200
HP:0003111	Abnormal blood ion concentration	1758	DMP1	ORPHA:289176
HP:0003111	Abnormal blood ion concentration	5167	ENPP1	ORPHA:289176
HP:0003111	Abnormal blood ion concentration	2778	GNAS	OMIM:612462
HP:0003111	Abnormal blood ion concentration	2778	GNAS	OMIM:103580
HP:0003111	Abnormal blood ion concentration	2778	GNAS	ORPHA:94089
HP:0003111	Abnormal blood ion concentration	2778	GNAS	ORPHA:79443
HP:0003111	Abnormal blood ion concentration	2778	GNAS	ORPHA:79444
HP:0003111	Abnormal blood ion concentration	8675	STX16	ORPHA:94089
HP:0003111	Abnormal blood ion concentration	6905	TBCE	ORPHA:93324
HP:0003111	Abnormal blood ion concentration	63901	FAM111A	ORPHA:93325
HP:0003111	Abnormal blood ion concentration	149461	CLDN19	OMIM:248190
HP:0003111	Abnormal blood ion concentration	5251	PHEX	OMIM:307800
HP:0003111	Abnormal blood ion concentration	10686	CLDN16	OMIM:248250
HP:0003111	Abnormal blood ion concentration	6575	SLC20A2	OMIM:213600
HP:0003111	Abnormal blood ion concentration	5155	PDGFB	OMIM:213600
HP:0003111	Abnormal blood ion concentration	5159	PDGFRB	OMIM:213600
HP:0003111	Abnormal blood ion concentration	55811	ADCY10	ORPHA:2197
HP:0003111	Abnormal blood ion concentration	79879	CCDC134	OMIM:619795
HP:0003111	Abnormal blood ion concentration	10568	SLC34A2	ORPHA:60025
HP:0003111	Abnormal blood ion concentration	142680	SLC34A3	OMIM:241530
HP:0003111	Abnormal blood ion concentration	3172	HNF4A	ORPHA:263455
HP:0003111	Abnormal blood ion concentration	1184	CLCN5	OMIM:300554
HP:0003111	Abnormal blood ion concentration	5442	POLRMT	OMIM:619743
HP:0003111	Abnormal blood ion concentration	368	ABCC6	OMIM:614473
HP:0003111	Abnormal blood ion concentration	368	ABCC6	ORPHA:51608
HP:0003111	Abnormal blood ion concentration	137682	NDUFAF6	OMIM:618913
HP:0003111	Abnormal blood ion concentration	137682	NDUFAF6	ORPHA:3337
HP:0003111	Abnormal blood ion concentration	4665	NAB2	ORPHA:2126
HP:0003111	Abnormal blood ion concentration	6778	STAT6	ORPHA:2126
HP:0003111	Abnormal blood ion concentration	8074	FGF23	OMIM:193100
HP:0003111	Abnormal blood ion concentration	2184	FAH	OMIM:276700
HP:0003111	Abnormal blood ion concentration	3845	KRAS	OMIM:163200
HP:0003111	Abnormal blood ion concentration	4893	NRAS	OMIM:163200
HP:0003111	Abnormal blood ion concentration	3265	HRAS	OMIM:163200
HP:0003111	Abnormal blood ion concentration	3265	HRAS	ORPHA:2874
HP:0003111	Abnormal blood ion concentration	1962	EHHADH	ORPHA:3337
HP:0003111	Abnormal blood ion concentration	2628	GATM	ORPHA:3337
HP:0003111	Abnormal blood ion concentration	9997	SCO2	ORPHA:521411
HP:0003111	Abnormal blood ion concentration	2495	FTH1	OMIM:615517
HP:0003111	Abnormal blood ion concentration	23545	ATP6V0A2	ORPHA:2834
HP:0003111	Abnormal blood ion concentration	540	ATP7B	OMIM:277900
HP:0003111	Abnormal blood ion concentration	55532	SLC30A10	ORPHA:309854
HP:0003111	Abnormal blood ion concentration	212	ALAS2	ORPHA:75563
HP:0003111	Abnormal blood ion concentration	3043	HBB	ORPHA:231222
HP:0003111	Abnormal blood ion concentration	3043	HBB	ORPHA:231226
HP:0003111	Abnormal blood ion concentration	3043	HBB	ORPHA:231214
HP:0003111	Abnormal blood ion concentration	9780	PIEZO1	ORPHA:3202
HP:0003111	Abnormal blood ion concentration	3783	KCNN4	ORPHA:3202
HP:0003111	Abnormal blood ion concentration	9056	SLC7A7	ORPHA:470
HP:0003111	Abnormal blood ion concentration	1356	CP	ORPHA:48818
HP:0003111	Abnormal blood ion concentration	164656	TMPRSS6	ORPHA:209981
HP:0003111	Abnormal blood ion concentration	22796	COG2	ORPHA:435934
HP:0003111	Abnormal blood ion concentration	22796	COG2	OMIM:617395
HP:0003111	Abnormal blood ion concentration	538	ATP7A	OMIM:304150
HP:0003111	Abnormal blood ion concentration	162	AP1B1	ORPHA:171851
HP:0003111	Abnormal blood ion concentration	162	AP1B1	OMIM:242150
HP:0003111	Abnormal blood ion concentration	1174	AP1S1	ORPHA:171851
HP:0003111	Abnormal blood ion concentration	537	ATP6AP1	OMIM:300972
HP:0003111	Abnormal blood ion concentration	9197	SLC33A1	OMIM:614482
HP:0003111	Abnormal blood ion concentration	55240	STEAP3	OMIM:615234
HP:0003111	Abnormal blood ion concentration	654	BMP6	ORPHA:465508
HP:0003111	Abnormal blood ion concentration	654	BMP6	OMIM:620121
HP:0003111	Abnormal blood ion concentration	3077	HFE	ORPHA:465508
HP:0003111	Abnormal blood ion concentration	57817	HAMP	OMIM:613313
HP:0003111	Abnormal blood ion concentration	57817	HAMP	ORPHA:79230
HP:0003111	Abnormal blood ion concentration	54977	SLC25A38	OMIM:205950
HP:0003111	Abnormal blood ion concentration	148738	HJV	ORPHA:79230
HP:0003111	Abnormal blood ion concentration	30061	SLC40A1	OMIM:606069
HP:0003111	Abnormal blood ion concentration	7036	TFR2	OMIM:604250
HP:0003111	Abnormal blood ion concentration	5313	PKLR	ORPHA:766
HP:0003111	Abnormal blood ion concentration	617	BCS1L	ORPHA:53693
HP:0003111	Abnormal blood ion concentration	10008	KCNE3	ORPHA:681
HP:0003111	Abnormal blood ion concentration	5825	ABCD3	OMIM:616278
HP:0003111	Abnormal blood ion concentration	4312	MMP1	ORPHA:79408
HP:0003111	Abnormal blood ion concentration	1294	COL7A1	ORPHA:79408
HP:0003111	Abnormal blood ion concentration	1294	COL7A1	ORPHA:89842
HP:0003111	Abnormal blood ion concentration	3376	IARS1	ORPHA:541423
HP:0003111	Abnormal blood ion concentration	3376	IARS1	OMIM:617093
HP:0003111	Abnormal blood ion concentration	7780	SLC30A2	OMIM:608118
HP:0003111	Abnormal blood ion concentration	55630	SLC39A4	OMIM:201100
HP:0003111	Abnormal blood ion concentration	23516	SLC39A14	ORPHA:521406
HP:0003111	Abnormal blood ion concentration	23516	SLC39A14	OMIM:617013
HP:0003111	Abnormal blood ion concentration	64116	SLC39A8	ORPHA:468699
HP:0003111	Abnormal blood ion concentration	2512	FTL	OMIM:600886
HP:0003111	Abnormal blood ion concentration	2512	FTL	ORPHA:254704
HP:0003111	Abnormal blood ion concentration	64170	CARD9	OMIM:212050
HP:0003111	Abnormal blood ion concentration	6499	SKIC2	OMIM:614602
HP:0003111	Abnormal blood ion concentration	51095	TRNT1	OMIM:616959
HP:0003111	Abnormal blood ion concentration	27086	FOXP1	ORPHA:391372
HP:0003111	Abnormal blood ion concentration	5277	PIGA	ORPHA:447
HP:0003111	Abnormal blood ion concentration	54809	SAMD9	OMIM:610455
HP:0003117	Abnormal circulating hormone concentration	4351	MPI	ORPHA:79319
HP:0003117	Abnormal circulating hormone concentration	4351	MPI	OMIM:602579
HP:0003117	Abnormal circulating hormone concentration	389692	MAFA	OMIM:147630
HP:0003117	Abnormal circulating hormone concentration	93587	TRMT10A	OMIM:616033
HP:0003117	Abnormal circulating hormone concentration	7351	UCP2	ORPHA:276556
HP:0003117	Abnormal circulating hormone concentration	340719	NANOS1	ORPHA:399808
HP:0003117	Abnormal circulating hormone concentration	340719	NANOS1	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	3973	LHCGR	OMIM:238320
HP:0003117	Abnormal circulating hormone concentration	171568	POLR3H	ORPHA:243
HP:0003117	Abnormal circulating hormone concentration	9210	BMP15	ORPHA:243
HP:0003117	Abnormal circulating hormone concentration	57122	NUP107	ORPHA:243
HP:0003117	Abnormal circulating hormone concentration	23395	LARS2	OMIM:615300
HP:0003117	Abnormal circulating hormone concentration	2332	FMR1	OMIM:311360
HP:0003117	Abnormal circulating hormone concentration	3295	HSD17B4	OMIM:233400
HP:0003117	Abnormal circulating hormone concentration	56154	TEX15	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	56155	TEX14	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	254528	MEIOB	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	91057	CCDC34	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	317719	KLHL10	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	56159	TEX11	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	1080	CFTR	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	122402	TDRD9	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	154197	PNLDC1	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	50511	SYCP3	ORPHA:399805
HP:0003117	Abnormal circulating hormone concentration	1621	DBH	ORPHA:230
HP:0003117	Abnormal circulating hormone concentration	92840	REEP6	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6094	ROM1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6017	RLBP1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	7401	CLRN1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	24	ABCA4	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	130557	ZNF513	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	582	BBS1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	92211	CDHR1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	23568	ARL2BP	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6121	RPE65	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	54806	AHI1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6101	RP1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	3419	IDH3A	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	4751	NEK2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	346007	EYS	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	8100	IFT88	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	23020	SNRNP200	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	762	CA4	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	138050	HGSNAT	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	196	AHR	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	3614	IMPDH1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	123016	TTC8	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6103	RPGR	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	1406	CRX	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5148	PDE6G	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	26160	IFT172	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	26121	PRPF31	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	583	BBS2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	4117	MAK	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	25794	FSCN2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	375298	CERKL	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	3420	IDH3B	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	57670	KIAA1549	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	7275	TUB	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	24148	PRPF6	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	23418	CRB1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	10461	MERTK	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	57709	SLC7A14	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	768206	PRCD	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	7399	USH2A	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	23370	ARHGEF18	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5949	RBP3	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6010	RHO	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6100	RP9	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	10002	NR2E3	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	9227	LRAT	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	84140	FAM161A	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	55812	SPATA7	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	55624	POMGNT1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	79797	ZNF408	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	403	ARL3	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5145	PDE6A	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	10210	TOPORS	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	8842	PROM1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	9128	PRPF4	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	145226	RDH12	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	50939	IMPG2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	8481	OFD1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	49855	SCAPER	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	9742	IFT140	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	2979	GUCA1B	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	1259	CNGA1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	1258	CNGB1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	60509	AGBL5	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5961	PRPH2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	388939	PCARE	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	7439	BEST1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	9785	DHX38	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	7287	TULP1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5995	RGR	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	9129	PRPF3	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	55975	KLHL7	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	3617	IMPG1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	94137	RP1L1	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	5158	PDE6B	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6102	RP2	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	55857	KIZ	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	64218	SEMA4A	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	4901	NRL	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	157657	CFAP418	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	10594	PRPF8	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	84100	ARL6	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6295	SAG	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	79947	DHDDS	ORPHA:791
HP:0003117	Abnormal circulating hormone concentration	6492	SIM1	ORPHA:369873
HP:0003117	Abnormal circulating hormone concentration	6566	SLC16A1	OMIM:610021
HP:0003117	Abnormal circulating hormone concentration	4160	MC4R	ORPHA:71529
HP:0003117	Abnormal circulating hormone concentration	4160	MC4R	OMIM:618406
HP:0003117	Abnormal circulating hormone concentration	7681	MKRN3	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	3653	IPW	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	791114	PWRN1	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	100033413	SNORD116-1	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	8924	HERC2	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	145624	PWAR1	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	23742	NPAP1	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	338433	SNORD115-1	OMIM:176270
HP:0003117	Abnormal circulating hormone concentration	23137	SMC5	OMIM:620185
HP:0003117	Abnormal circulating hormone concentration	5468	PPARG	OMIM:604367
HP:0003117	Abnormal circulating hormone concentration	5468	PPARG	ORPHA:528
HP:0003117	Abnormal circulating hormone concentration	25970	SH2B1	ORPHA:329249
HP:0003117	Abnormal circulating hormone concentration	129563	DIS3L2	ORPHA:2849
HP:0003117	Abnormal circulating hormone concentration	284119	CAVIN1	ORPHA:528
HP:0003117	Abnormal circulating hormone concentration	284119	CAVIN1	OMIM:613327
HP:0003117	Abnormal circulating hormone concentration	2353	FOS	ORPHA:528
HP:0003117	Abnormal circulating hormone concentration	857	CAV1	ORPHA:528
HP:0003117	Abnormal circulating hormone concentration	55186	SLC25A36	OMIM:620211
HP:0003117	Abnormal circulating hormone concentration	2584	GALK1	ORPHA:79237
HP:0003117	Abnormal circulating hormone concentration	5373	PMM2	ORPHA:79318
HP:0003117	Abnormal circulating hormone concentration	3248	HPGD	ORPHA:2796
HP:0003117	Abnormal circulating hormone concentration	6578	SLCO2A1	ORPHA:2796
HP:0003117	Abnormal circulating hormone concentration	2736	GLI2	ORPHA:95494
HP:0003117	Abnormal circulating hormone concentration	3170	FOXA2	ORPHA:95494
HP:0003117	Abnormal circulating hormone concentration	9049	AIP	ORPHA:2965
HP:0003117	Abnormal circulating hormone concentration	5346	PLIN1	ORPHA:280356
HP:0003117	Abnormal circulating hormone concentration	84196	USP48	ORPHA:96253
HP:0003117	Abnormal circulating hormone concentration	9101	USP8	ORPHA:96253
HP:0003117	Abnormal circulating hormone concentration	64072	CDH23	ORPHA:96253
HP:0003117	Abnormal circulating hormone concentration	673	BRAF	ORPHA:96253
HP:0003117	Abnormal circulating hormone concentration	546	ATRX	ORPHA:96253
HP:0003117	Abnormal circulating hormone concentration	2778	GNAS	OMIM:174800
HP:0003117	Abnormal circulating hormone concentration	2778	GNAS	OMIM:219080
HP:0003117	Abnormal circulating hormone concentration	2778	GNAS	ORPHA:562
HP:0003117	Abnormal circulating hormone concentration	2778	GNAS	ORPHA:189427
HP:0003117	Abnormal circulating hormone concentration	5566	PRKACA	OMIM:615830
HP:0003117	Abnormal circulating hormone concentration	5566	PRKACA	ORPHA:189439
HP:0003117	Abnormal circulating hormone concentration	8622	PDE8B	ORPHA:189439
HP:0003117	Abnormal circulating hormone concentration	8622	PDE8B	OMIM:614190
HP:0003117	Abnormal circulating hormone concentration	50940	PDE11A	ORPHA:189439
HP:0003117	Abnormal circulating hormone concentration	50940	PDE11A	OMIM:610475
HP:0003117	Abnormal circulating hormone concentration	50940	PDE11A	ORPHA:1359
HP:0003117	Abnormal circulating hormone concentration	79798	ARMC5	OMIM:615954
HP:0003117	Abnormal circulating hormone concentration	79798	ARMC5	ORPHA:189427
HP:0003117	Abnormal circulating hormone concentration	3767	KCNJ11	ORPHA:79644
HP:0003117	Abnormal circulating hormone concentration	5979	RET	OMIM:171400
HP:0003117	Abnormal circulating hormone concentration	3350	HTR1A	OMIM:614674
HP:0003117	Abnormal circulating hormone concentration	57502	NLGN4X	OMIM:300495
HP:0003117	Abnormal circulating hormone concentration	54413	NLGN3	OMIM:300425
HP:0003117	Abnormal circulating hormone concentration	57477	SHROOM4	ORPHA:85288
HP:0003117	Abnormal circulating hormone concentration	6999	TDO2	OMIM:600627
HP:0003117	Abnormal circulating hormone concentration	1616	DAXX	ORPHA:100075
HP:0003117	Abnormal circulating hormone concentration	23767	FLRT3	ORPHA:478
HP:0003117	Abnormal circulating hormone concentration	1630	DCC	ORPHA:478
HP:0003117	Abnormal circulating hormone concentration	54756	IL17RD	ORPHA:478
HP:0003117	Abnormal circulating hormone concentration	6663	SOX10	ORPHA:478
HP:0003117	Abnormal circulating hormone concentration	285025	CCDC141	ORPHA:478
HP:0003117	Abnormal circulating hormone concentration	1576	CYP3A4	OMIM:619073
HP:0003117	Abnormal circulating hormone concentration	5251	PHEX	OMIM:307800
HP:0003117	Abnormal circulating hormone concentration	79577	CDC73	ORPHA:99880
HP:0003117	Abnormal circulating hormone concentration	79577	CDC73	ORPHA:99879
HP:0003117	Abnormal circulating hormone concentration	79577	CDC73	ORPHA:143
HP:0003117	Abnormal circulating hormone concentration	9365	KL	OMIM:617994
HP:0003117	Abnormal circulating hormone concentration	1594	CYP27B1	ORPHA:289157
HP:0003117	Abnormal circulating hormone concentration	1594	CYP27B1	OMIM:264700
HP:0003117	Abnormal circulating hormone concentration	120227	CYP2R1	ORPHA:289157
HP:0003117	Abnormal circulating hormone concentration	9247	GCM2	ORPHA:99879
HP:0003117	Abnormal circulating hormone concentration	8675	STX16	ORPHA:94089
HP:0003117	Abnormal circulating hormone concentration	8675	STX16	OMIM:603233
HP:0003117	Abnormal circulating hormone concentration	5144	PDE4D	ORPHA:280651
HP:0003117	Abnormal circulating hormone concentration	5144	PDE4D	ORPHA:439822
HP:0003117	Abnormal circulating hormone concentration	149775	GNAS-AS1	OMIM:603233
HP:0003117	Abnormal circulating hormone concentration	7421	VDR	OMIM:277440
HP:0003117	Abnormal circulating hormone concentration	10686	CLDN16	OMIM:248250
HP:0003117	Abnormal circulating hormone concentration	4763	NF1	ORPHA:97685
HP:0003117	Abnormal circulating hormone concentration	50964	SOST	OMIM:122860
HP:0003117	Abnormal circulating hormone concentration	4000	LMNA	ORPHA:280365
HP:0003117	Abnormal circulating hormone concentration	4000	LMNA	ORPHA:740
HP:0003117	Abnormal circulating hormone concentration	10269	ZMPSTE24	ORPHA:740
HP:0003117	Abnormal circulating hormone concentration	26580	BSCL2	OMIM:269700
HP:0003117	Abnormal circulating hormone concentration	3763	KCNJ6	OMIM:614098
HP:0003117	Abnormal circulating hormone concentration	63924	CIDEC	ORPHA:435651
HP:0003117	Abnormal circulating hormone concentration	63924	CIDEC	OMIM:615238
HP:0003117	Abnormal circulating hormone concentration	3952	LEP	OMIM:614962
HP:0003117	Abnormal circulating hormone concentration	3952	LEP	ORPHA:66628
HP:0003117	Abnormal circulating hormone concentration	3991	LIPE	ORPHA:435660
HP:0003117	Abnormal circulating hormone concentration	8815	BANF1	OMIM:614008
HP:0003117	Abnormal circulating hormone concentration	3953	LEPR	ORPHA:179494
HP:0003117	Abnormal circulating hormone concentration	208	AKT2	ORPHA:79085
HP:0003117	Abnormal circulating hormone concentration	10555	AGPAT2	OMIM:608594
HP:0003117	Abnormal circulating hormone concentration	7428	VHL	ORPHA:892
HP:0003117	Abnormal circulating hormone concentration	595	CCND1	ORPHA:892
HP:0003117	Abnormal circulating hormone concentration	6392	SDHD	OMIM:168000
HP:0003117	Abnormal circulating hormone concentration	8402	SLC25A11	OMIM:618464
HP:0003117	Abnormal circulating hormone concentration	6391	SDHC	OMIM:605373
HP:0003117	Abnormal circulating hormone concentration	1743	DLST	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	4191	MDH2	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	6389	SDHA	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	23095	KIF1B	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	2271	FH	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	54949	SDHAF2	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	55654	TMEM127	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	6390	SDHB	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	4149	MAX	ORPHA:29072
HP:0003117	Abnormal circulating hormone concentration	9095	TBX19	ORPHA:199296
HP:0003117	Abnormal circulating hormone concentration	9095	TBX19	OMIM:201400
HP:0003117	Abnormal circulating hormone concentration	215	ABCD1	ORPHA:139396
HP:0003117	Abnormal circulating hormone concentration	8086	AAAS	OMIM:231550
HP:0003117	Abnormal circulating hormone concentration	5443	POMC	OMIM:609734
HP:0003117	Abnormal circulating hormone concentration	55278	QRSL1	OMIM:618835
HP:0003117	Abnormal circulating hormone concentration	5188	GATB	OMIM:618838
HP:0003117	Abnormal circulating hormone concentration	866	SERPINA6	OMIM:611489
HP:0003117	Abnormal circulating hormone concentration	283459	GATC	OMIM:618839
HP:0003117	Abnormal circulating hormone concentration	2737	GLI3	OMIM:146510
HP:0003117	Abnormal circulating hormone concentration	9150	CTDP1	OMIM:604168
HP:0003117	Abnormal circulating hormone concentration	2245	FGD1	OMIM:305400
HP:0003117	Abnormal circulating hormone concentration	286053	NSMCE2	OMIM:617253
HP:0003117	Abnormal circulating hormone concentration	1730	DIAPH2	OMIM:300511
HP:0003117	Abnormal circulating hormone concentration	402381	SOHLH1	OMIM:617690
HP:0003117	Abnormal circulating hormone concentration	2100	ESR2	OMIM:618187
HP:0003117	Abnormal circulating hormone concentration	84515	MCM8	OMIM:612885
HP:0003117	Abnormal circulating hormone concentration	57647	DHX37	OMIM:273250
HP:0003117	Abnormal circulating hormone concentration	57647	DHX37	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	2516	NR5A1	OMIM:612964
HP:0003117	Abnormal circulating hormone concentration	2516	NR5A1	OMIM:612965
HP:0003117	Abnormal circulating hormone concentration	2516	NR5A1	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0003117	Abnormal circulating hormone concentration	6736	SRY	OMIM:400044
HP:0003117	Abnormal circulating hormone concentration	6736	SRY	OMIM:400045
HP:0003117	Abnormal circulating hormone concentration	6736	SRY	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	7555	CNBP	OMIM:602668
HP:0003117	Abnormal circulating hormone concentration	317761	C14orf39	OMIM:619203
HP:0003117	Abnormal circulating hormone concentration	164045	HFM1	OMIM:615724
HP:0003117	Abnormal circulating hormone concentration	56945	MRPS22	OMIM:618117
HP:0003117	Abnormal circulating hormone concentration	10734	STAG3	OMIM:615723
HP:0003117	Abnormal circulating hormone concentration	254394	MCM9	OMIM:616185
HP:0003117	Abnormal circulating hormone concentration	57697	FANCM	OMIM:618086
HP:0003117	Abnormal circulating hormone concentration	57697	FANCM	OMIM:618096
HP:0003117	Abnormal circulating hormone concentration	29893	PSMC3IP	OMIM:614324
HP:0003117	Abnormal circulating hormone concentration	2074	ERCC6	OMIM:616946
HP:0003117	Abnormal circulating hormone concentration	8192	CLPP	OMIM:614129
HP:0003117	Abnormal circulating hormone concentration	646	BNC1	OMIM:618723
HP:0003117	Abnormal circulating hormone concentration	658	BMPR1B	OMIM:609441
HP:0003117	Abnormal circulating hormone concentration	93953	GCNA	OMIM:301077
HP:0003117	Abnormal circulating hormone concentration	7516	XRCC2	OMIM:619146
HP:0003117	Abnormal circulating hormone concentration	2661	GDF9	OMIM:618014
HP:0003117	Abnormal circulating hormone concentration	23514	SPIDR	OMIM:619665
HP:0003117	Abnormal circulating hormone concentration	4439	MSH5	OMIM:617442
HP:0003117	Abnormal circulating hormone concentration	55012	PPP2R3C	OMIM:618419
HP:0003117	Abnormal circulating hormone concentration	344018	FIGLA	OMIM:612310
HP:0003117	Abnormal circulating hormone concentration	158401	SHOC1	OMIM:619949
HP:0003117	Abnormal circulating hormone concentration	6662	SOX9	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	6845	VAMP7	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	51741	WWOX	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	7490	WT1	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	58524	DMRT3	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	190	NR0B1	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	2626	GATA4	ORPHA:251510
HP:0003117	Abnormal circulating hormone concentration	1967	EIF2B1	OMIM:603896
HP:0003117	Abnormal circulating hormone concentration	668	FOXL2	ORPHA:572333
HP:0003117	Abnormal circulating hormone concentration	2746	GLUD1	ORPHA:35878
HP:0003117	Abnormal circulating hormone concentration	3033	HADH	ORPHA:71212
HP:0003117	Abnormal circulating hormone concentration	7528	YY1	ORPHA:97279
HP:0003117	Abnormal circulating hormone concentration	60676	PAPPA2	OMIM:619489
HP:0003117	Abnormal circulating hormone concentration	3291	HSD11B2	ORPHA:320
HP:0003117	Abnormal circulating hormone concentration	1528	CYB5A	ORPHA:90796
HP:0003117	Abnormal circulating hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0003117	Abnormal circulating hormone concentration	1585	CYP11B2	ORPHA:556030
HP:0003117	Abnormal circulating hormone concentration	7038	TG	OMIM:274700
HP:0003117	Abnormal circulating hormone concentration	7067	THRA	OMIM:614450
HP:0003117	Abnormal circulating hormone concentration	367	AR	ORPHA:90797
HP:0003117	Abnormal circulating hormone concentration	54766	BTG4	OMIM:619009
HP:0003117	Abnormal circulating hormone concentration	11128	POLR3A	ORPHA:3455
HP:0003117	Abnormal circulating hormone concentration	2908	NR3C1	OMIM:615962
HP:0003117	Abnormal circulating hormone concentration	54361	WNT4	OMIM:158330
HP:0003117	Abnormal circulating hormone concentration	3284	HSD3B2	ORPHA:90791
HP:0003117	Abnormal circulating hormone concentration	1584	CYP11B1	OMIM:202010
HP:0003117	Abnormal circulating hormone concentration	1584	CYP11B1	ORPHA:90795
HP:0003117	Abnormal circulating hormone concentration	84133	ZNRF3	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	7157	TP53	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	5573	PRKAR1A	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	1499	CTNNB1	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	1029	CDKN2A	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	7015	TERT	ORPHA:1501
HP:0003117	Abnormal circulating hormone concentration	201134	CEP112	OMIM:619044
HP:0003117	Abnormal circulating hormone concentration	7026	NR2F2	OMIM:618901
HP:0003117	Abnormal circulating hormone concentration	2492	FSHR	ORPHA:64739
HP:0003117	Abnormal circulating hormone concentration	3480	IGF1R	OMIM:270450
HP:0003117	Abnormal circulating hormone concentration	83550	GPR101	OMIM:300942
HP:0003117	Abnormal circulating hormone concentration	10908	PNPLA6	OMIM:215470
HP:0003117	Abnormal circulating hormone concentration	2796	GNRH1	OMIM:614841
HP:0003117	Abnormal circulating hormone concentration	6638	SNRPN	ORPHA:177904
HP:0003117	Abnormal circulating hormone concentration	6638	SNRPN	ORPHA:177901
HP:0003117	Abnormal circulating hormone concentration	6638	SNRPN	ORPHA:98754
HP:0003117	Abnormal circulating hormone concentration	4692	NDN	ORPHA:177904
HP:0003117	Abnormal circulating hormone concentration	4692	NDN	ORPHA:177901
HP:0003117	Abnormal circulating hormone concentration	4692	NDN	ORPHA:98754
HP:0003117	Abnormal circulating hormone concentration	54551	MAGEL2	ORPHA:177904
HP:0003117	Abnormal circulating hormone concentration	54551	MAGEL2	ORPHA:177901
HP:0003117	Abnormal circulating hormone concentration	54551	MAGEL2	ORPHA:98754
HP:0003117	Abnormal circulating hormone concentration	4948	OCA2	ORPHA:177904
HP:0003117	Abnormal circulating hormone concentration	4948	OCA2	ORPHA:177901
HP:0003117	Abnormal circulating hormone concentration	4948	OCA2	ORPHA:98754
HP:0003117	Abnormal circulating hormone concentration	1363	CPE	OMIM:619326
HP:0003117	Abnormal circulating hormone concentration	2488	FSHB	OMIM:229070
HP:0003117	Abnormal circulating hormone concentration	3730	ANOS1	OMIM:308700
HP:0003117	Abnormal circulating hormone concentration	389549	FEZF1	OMIM:616030
HP:0003117	Abnormal circulating hormone concentration	5626	PROP1	OMIM:262600
HP:0003117	Abnormal circulating hormone concentration	5626	PROP1	ORPHA:226307
HP:0003117	Abnormal circulating hormone concentration	3972	LHB	OMIM:228300
HP:0003117	Abnormal circulating hormone concentration	23312	DMXL2	ORPHA:453533
HP:0003117	Abnormal circulating hormone concentration	59336	PRDM13	OMIM:619761
HP:0003117	Abnormal circulating hormone concentration	89884	LHX4	ORPHA:226307
HP:0003117	Abnormal circulating hormone concentration	8022	LHX3	ORPHA:226307
HP:0003117	Abnormal circulating hormone concentration	5449	POU1F1	ORPHA:226307
HP:0003117	Abnormal circulating hormone concentration	8820	HESX1	ORPHA:226307
HP:0003117	Abnormal circulating hormone concentration	5015	OTX2	OMIM:613986
HP:0003117	Abnormal circulating hormone concentration	4808	NHLH2	OMIM:619755
HP:0003117	Abnormal circulating hormone concentration	55366	LGR4	OMIM:619613
HP:0003117	Abnormal circulating hormone concentration	3814	KISS1	OMIM:614842
HP:0003117	Abnormal circulating hormone concentration	10371	SEMA3A	OMIM:614897
HP:0003117	Abnormal circulating hormone concentration	8314	BAP1	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	4771	NF2	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	5155	PDGFB	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	84231	TRAF7	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	6608	SMO	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	207	AKT1	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	51684	SUFU	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0003117	Abnormal circulating hormone concentration	84634	KISS1R	OMIM:614837
HP:0003117	Abnormal circulating hormone concentration	6866	TAC3	OMIM:614839
HP:0003117	Abnormal circulating hormone concentration	6875	TAF4B	OMIM:615841
HP:0003117	Abnormal circulating hormone concentration	84225	ZMYND15	OMIM:615842
HP:0003117	Abnormal circulating hormone concentration	84733	CBX2	OMIM:613080
HP:0003117	Abnormal circulating hormone concentration	8468	FKBP6	OMIM:620103
HP:0003117	Abnormal circulating hormone concentration	93426	SYCE1	OMIM:616950
HP:0003117	Abnormal circulating hormone concentration	63901	FAM111A	ORPHA:93325
HP:0003117	Abnormal circulating hormone concentration	4438	MSH4	OMIM:108420
HP:0003117	Abnormal circulating hormone concentration	7840	ALMS1	ORPHA:64
HP:0003117	Abnormal circulating hormone concentration	1201	CLN3	ORPHA:228346
HP:0003117	Abnormal circulating hormone concentration	29929	ALG6	ORPHA:79320
HP:0003117	Abnormal circulating hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0003117	Abnormal circulating hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0003117	Abnormal circulating hormone concentration	4791	NFKB2	ORPHA:293978
HP:0003117	Abnormal circulating hormone concentration	9968	MED12	OMIM:301068
HP:0003117	Abnormal circulating hormone concentration	2592	GALT	ORPHA:79239
HP:0003117	Abnormal circulating hormone concentration	23387	SIK3	OMIM:618162
HP:0003117	Abnormal circulating hormone concentration	55131	RBM28	ORPHA:157954
HP:0003117	Abnormal circulating hormone concentration	6609	SMPD1	ORPHA:77293
HP:0003117	Abnormal circulating hormone concentration	9851	KIAA0753	OMIM:619476
HP:0003117	Abnormal circulating hormone concentration	3483	IGFALS	ORPHA:140941
HP:0003117	Abnormal circulating hormone concentration	3483	IGFALS	OMIM:615961
HP:0003117	Abnormal circulating hormone concentration	6777	STAT5B	OMIM:618985
HP:0003117	Abnormal circulating hormone concentration	5236	PGM1	OMIM:614921
HP:0003117	Abnormal circulating hormone concentration	2688	GH1	OMIM:173100
HP:0003117	Abnormal circulating hormone concentration	2688	GH1	OMIM:262400
HP:0003117	Abnormal circulating hormone concentration	2690	GHR	ORPHA:314802
HP:0003117	Abnormal circulating hormone concentration	2690	GHR	OMIM:604271
HP:0003117	Abnormal circulating hormone concentration	2690	GHR	OMIM:262500
HP:0003117	Abnormal circulating hormone concentration	9526	MPDU1	ORPHA:79323
HP:0003117	Abnormal circulating hormone concentration	79087	ALG12	ORPHA:79324
HP:0003117	Abnormal circulating hormone concentration	1513	CTSK	ORPHA:763
HP:0003117	Abnormal circulating hormone concentration	3479	IGF1	OMIM:608747
HP:0003117	Abnormal circulating hormone concentration	80067	DCAF17	OMIM:241080
HP:0003117	Abnormal circulating hormone concentration	2692	GHRHR	OMIM:618157
HP:0003117	Abnormal circulating hormone concentration	6658	SOX3	ORPHA:67045
HP:0003117	Abnormal circulating hormone concentration	113179	ADAT3	ORPHA:363528
HP:0003117	Abnormal circulating hormone concentration	55784	MCTP2	ORPHA:1596
HP:0003117	Abnormal circulating hormone concentration	2693	GHSR	ORPHA:314811
HP:0003117	Abnormal circulating hormone concentration	2642	GCGR	OMIM:619290
HP:0003117	Abnormal circulating hormone concentration	2642	GCGR	ORPHA:438274
HP:0003117	Abnormal circulating hormone concentration	269	AMHR2	OMIM:261550
HP:0003117	Abnormal circulating hormone concentration	268	AMH	OMIM:261550
HP:0003117	Abnormal circulating hormone concentration	7252	TSHB	ORPHA:90674
HP:0003117	Abnormal circulating hormone concentration	56246	MRAP	ORPHA:361
HP:0003117	Abnormal circulating hormone concentration	6770	STAR	ORPHA:361
HP:0003117	Abnormal circulating hormone concentration	4158	MC2R	ORPHA:361
HP:0003117	Abnormal circulating hormone concentration	23530	NNT	ORPHA:361
HP:0003117	Abnormal circulating hormone concentration	10587	TXNRD2	ORPHA:361
HP:0003117	Abnormal circulating hormone concentration	2335	FN1	ORPHA:93315
HP:0003117	Abnormal circulating hormone concentration	1280	COL2A1	ORPHA:93315
HP:0003117	Abnormal circulating hormone concentration	54757	FAM20A	ORPHA:1031
HP:0003117	Abnormal circulating hormone concentration	142680	SLC34A3	ORPHA:157215
HP:0003117	Abnormal circulating hormone concentration	6569	SLC34A1	ORPHA:157215
HP:0003117	Abnormal circulating hormone concentration	2099	ESR1	OMIM:615363
HP:0003117	Abnormal circulating hormone concentration	551	AVP	OMIM:125700
HP:0003117	Abnormal circulating hormone concentration	79879	CCDC134	OMIM:619795
HP:0003117	Abnormal circulating hormone concentration	7253	TSHR	OMIM:609152
HP:0003117	Abnormal circulating hormone concentration	7253	TSHR	OMIM:603373
HP:0003117	Abnormal circulating hormone concentration	7849	PAX8	OMIM:218700
HP:0003117	Abnormal circulating hormone concentration	7201	TRHR	OMIM:618573
HP:0003117	Abnormal circulating hormone concentration	7201	TRHR	ORPHA:99832
HP:0003117	Abnormal circulating hormone concentration	405753	DUOXA2	ORPHA:95716
HP:0003117	Abnormal circulating hormone concentration	6528	SLC5A5	ORPHA:95716
HP:0003117	Abnormal circulating hormone concentration	7173	TPO	ORPHA:95716
HP:0003117	Abnormal circulating hormone concentration	7173	TPO	OMIM:274500
HP:0003117	Abnormal circulating hormone concentration	389434	IYD	ORPHA:95716
HP:0003117	Abnormal circulating hormone concentration	50506	DUOX2	ORPHA:95716
HP:0003117	Abnormal circulating hormone concentration	50506	DUOX2	ORPHA:226316
HP:0003117	Abnormal circulating hormone concentration	169792	GLIS3	OMIM:610199
HP:0003117	Abnormal circulating hormone concentration	79053	ALG8	OMIM:608104
HP:0003117	Abnormal circulating hormone concentration	8239	USP9X	ORPHA:480880
HP:0003117	Abnormal circulating hormone concentration	54914	FOCAD	OMIM:619991
HP:0003117	Abnormal circulating hormone concentration	109	ADCY3	OMIM:617885
HP:0003117	Abnormal circulating hormone concentration	4204	MECP2	ORPHA:778
HP:0003117	Abnormal circulating hormone concentration	5741	PTH	OMIM:146200
HP:0003117	Abnormal circulating hormone concentration	1591	CYP24A1	OMIM:143880
HP:0003117	Abnormal circulating hormone concentration	6899	TBX1	OMIM:188400
HP:0003117	Abnormal circulating hormone concentration	6905	TBCE	OMIM:241410
HP:0003117	Abnormal circulating hormone concentration	135	ADORA2A	ORPHA:363549
HP:0003117	Abnormal circulating hormone concentration	5447	POR	ORPHA:95699
HP:0003117	Abnormal circulating hormone concentration	213	ALB	OMIM:615999
HP:0003117	Abnormal circulating hormone concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0003117	Abnormal circulating hormone concentration	100134444	KCNJ18	OMIM:613239
HP:0003117	Abnormal circulating hormone concentration	7068	THRB	OMIM:274300
HP:0003117	Abnormal circulating hormone concentration	7068	THRB	OMIM:188570
HP:0003117	Abnormal circulating hormone concentration	79048	SECISBP2	OMIM:609698
HP:0003117	Abnormal circulating hormone concentration	8471	IRS4	OMIM:301035
HP:0003117	Abnormal circulating hormone concentration	1482	NKX2-5	OMIM:225250
HP:0003117	Abnormal circulating hormone concentration	6907	TBL1X	OMIM:301033
HP:0003117	Abnormal circulating hormone concentration	8567	MADD	OMIM:619004
HP:0003117	Abnormal circulating hormone concentration	2034	EPAS1	OMIM:611783
HP:0003117	Abnormal circulating hormone concentration	2056	EPO	OMIM:617907
HP:0003117	Abnormal circulating hormone concentration	1733	DIO1	OMIM:619855
HP:0003117	Abnormal circulating hormone concentration	1828	DSG1	OMIM:615508
HP:0003117	Abnormal circulating hormone concentration	92935	MARS2	OMIM:616430
HP:0003117	Abnormal circulating hormone concentration	91147	TMEM67	OMIM:602152
HP:0003117	Abnormal circulating hormone concentration	3643	INSR	OMIM:609968
HP:0003117	Abnormal circulating hormone concentration	2260	FGFR1	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	81848	SPRY4	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	128674	PROKR2	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	2253	FGF8	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	60675	PROK2	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	55636	CHD7	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	6870	TACR3	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	1848	DUSP6	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	26012	NSMF	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	55717	WDR11	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	9394	HS6ST1	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	2798	GNRHR	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	8822	FGF17	ORPHA:432
HP:0003117	Abnormal circulating hormone concentration	5422	POLA1	ORPHA:163976
HP:0003117	Abnormal circulating hormone concentration	79625	NDNF	OMIM:618841
HP:0003117	Abnormal circulating hormone concentration	654	BMP6	ORPHA:465508
HP:0003117	Abnormal circulating hormone concentration	3077	HFE	ORPHA:465508
HP:0003117	Abnormal circulating hormone concentration	2583	B4GALNT1	ORPHA:101006
HP:0003117	Abnormal circulating hormone concentration	2583	B4GALNT1	OMIM:609195
HP:0003117	Abnormal circulating hormone concentration	55630	SLC39A4	OMIM:201100
HP:0003117	Abnormal circulating hormone concentration	50846	DHH	ORPHA:168563
HP:0003117	Abnormal circulating hormone concentration	8462	KLF11	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	2645	GCK	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	26060	APPL1	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	640	BLK	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	1056	CEL	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	4760	NEUROD1	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	3651	PDX1	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	6833	ABCC8	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	5078	PAX4	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	3172	HNF4A	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	6927	HNF1A	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	3630	INS	ORPHA:552
HP:0003117	Abnormal circulating hormone concentration	6524	SLC5A2	ORPHA:69076
HP:0003117	Abnormal circulating hormone concentration	4665	NAB2	ORPHA:2126
HP:0003117	Abnormal circulating hormone concentration	6778	STAT6	ORPHA:2126
HP:0003117	Abnormal circulating hormone concentration	5122	PCSK1	OMIM:600955
HP:0003117	Abnormal circulating hormone concentration	54941	RNF125	OMIM:616260
HP:0003117	Abnormal circulating hormone concentration	346171	ZFP57	ORPHA:99886
HP:0003117	Abnormal circulating hormone concentration	57061	HYMAI	ORPHA:99886
HP:0003117	Abnormal circulating hormone concentration	5325	PLAGL1	ORPHA:99886
HP:0003117	Abnormal circulating hormone concentration	100151683	RNU4ATAC	ORPHA:2636
HP:0003117	Abnormal circulating hormone concentration	55503	TRPV6	ORPHA:417
HP:0003117	Abnormal circulating hormone concentration	846	CASR	ORPHA:417
HP:0003117	Abnormal circulating hormone concentration	149461	CLDN19	ORPHA:2196
HP:0003117	Abnormal circulating hormone concentration	326	AIRE	ORPHA:3453
HP:0003117	Abnormal circulating hormone concentration	4952	OCRL	ORPHA:534
HP:0003117	Abnormal circulating hormone concentration	4221	MEN1	ORPHA:652
HP:0003117	Abnormal circulating hormone concentration	1027	CDKN1B	ORPHA:652
HP:0003117	Abnormal circulating hormone concentration	1026	CDKN1A	ORPHA:652
HP:0003117	Abnormal circulating hormone concentration	1030	CDKN2B	ORPHA:652
HP:0003117	Abnormal circulating hormone concentration	1031	CDKN2C	ORPHA:652
HP:0003117	Abnormal circulating hormone concentration	57192	MCOLN1	OMIM:252650
HP:0033770	Gastric adenocarcinoma	324	APC	OMIM:619182
HP:0033770	Gastric adenocarcinoma	4437	MSH3	OMIM:617100
HP:0033777	Supernumerary cusp	2033	EP300	OMIM:613684
HP:0033777	Supernumerary cusp	2033	EP300	OMIM:180849
HP:0033777	Supernumerary cusp	2033	EP300	ORPHA:353284
HP:0033777	Supernumerary cusp	1387	CREBBP	OMIM:180849
HP:0033777	Supernumerary cusp	1387	CREBBP	ORPHA:353277
HP:0033777	Supernumerary cusp	1387	CREBBP	ORPHA:353281
HP:0033777	Supernumerary cusp	4750	NEK1	ORPHA:2751
HP:0033777	Supernumerary cusp	22856	CHSY1	OMIM:605282
HP:0033777	Supernumerary cusp	22856	CHSY1	ORPHA:363417
HP:0033777	Supernumerary cusp	4810	NHS	OMIM:302350
HP:0003126	Low-molecular-weight proteinuria	1497	CTNS	OMIM:219800
HP:0003126	Low-molecular-weight proteinuria	1497	CTNS	ORPHA:411634
HP:0003126	Low-molecular-weight proteinuria	1497	CTNS	ORPHA:411629
HP:0003126	Low-molecular-weight proteinuria	4952	OCRL	OMIM:300555
HP:0003126	Low-molecular-weight proteinuria	4952	OCRL	OMIM:309000
HP:0003126	Low-molecular-weight proteinuria	1184	CLCN5	OMIM:300554
HP:0003126	Low-molecular-weight proteinuria	1184	CLCN5	OMIM:300009
HP:0003126	Low-molecular-weight proteinuria	1184	CLCN5	OMIM:310468
HP:0003126	Low-molecular-weight proteinuria	1184	CLCN5	OMIM:308990
HP:0003126	Low-molecular-weight proteinuria	2628	GATM	OMIM:134600
HP:0003126	Low-molecular-weight proteinuria	2628	GATM	ORPHA:3337
HP:0003126	Low-molecular-weight proteinuria	1962	EHHADH	OMIM:615605
HP:0003126	Low-molecular-weight proteinuria	1962	EHHADH	ORPHA:3337
HP:0003126	Low-molecular-weight proteinuria	137682	NDUFAF6	ORPHA:3337
HP:0003126	Low-molecular-weight proteinuria	6569	SLC34A1	ORPHA:3337
HP:0003127	Hypocalciuria	1175	AP2S1	OMIM:600740
HP:0003127	Hypocalciuria	486	FXYD2	OMIM:154020
HP:0003127	Hypocalciuria	9071	CLDN10	OMIM:617671
HP:0003127	Hypocalciuria	5251	PHEX	ORPHA:89936
HP:0003127	Hypocalciuria	3766	KCNJ10	OMIM:612780
HP:0003127	Hypocalciuria	846	CASR	OMIM:145980
HP:0003127	Hypocalciuria	2767	GNA11	OMIM:145981
HP:0003127	Hypocalciuria	6559	SLC12A3	OMIM:263800
HP:0003127	Hypocalciuria	54757	FAM20A	ORPHA:1031
HP:0003127	Hypocalciuria	1188	CLCNKB	OMIM:607364
HP:0033785	Enamel agenesis	5885	RAD21	OMIM:614701
HP:0033785	Enamel agenesis	26504	CNNM4	OMIM:217080
HP:0033786	Hypomature enamel	9313	MMP20	OMIM:612529
HP:0003137	Prolinuria	26873	OPLAH	OMIM:260005
HP:0003137	Prolinuria	153201	SLC36A2	OMIM:242600
HP:0003137	Prolinuria	153201	SLC36A2	ORPHA:42062
HP:0003137	Prolinuria	5625	PRODH	OMIM:239500
HP:0003137	Prolinuria	5625	PRODH	ORPHA:419
HP:0003137	Prolinuria	348932	SLC6A18	ORPHA:42062
HP:0003137	Prolinuria	54716	SLC6A20	ORPHA:42062
HP:0003137	Prolinuria	340024	SLC6A19	ORPHA:42062
HP:0003137	Prolinuria	8659	ALDH4A1	ORPHA:79101
HP:0003137	Prolinuria	8659	ALDH4A1	OMIM:239510
HP:0003133	Abnormality of the spinocerebellar tracts	4287	ATXN3	OMIM:109150
HP:0003133	Abnormality of the spinocerebellar tracts	4287	ATXN3	ORPHA:276238
HP:0003133	Abnormality of the spinocerebellar tracts	4287	ATXN3	ORPHA:276244
HP:0003133	Abnormality of the spinocerebellar tracts	4287	ATXN3	ORPHA:276241
HP:0003133	Abnormality of the spinocerebellar tracts	5575	PRKAR1B	ORPHA:412066
HP:0003133	Abnormality of the spinocerebellar tracts	2705	GJB1	ORPHA:1175
HP:0003133	Abnormality of the spinocerebellar tracts	5354	PLP1	OMIM:312920
HP:0003133	Abnormality of the spinocerebellar tracts	55775	TDP1	ORPHA:94124
HP:0003133	Abnormality of the spinocerebellar tracts	85021	REPS1	OMIM:617916
HP:0003133	Abnormality of the spinocerebellar tracts	6310	ATXN1	OMIM:164400
HP:0003133	Abnormality of the spinocerebellar tracts	50484	RRM2B	ORPHA:329336
HP:0003133	Abnormality of the spinocerebellar tracts	246243	RNASEH1	ORPHA:329336
HP:0003133	Abnormality of the spinocerebellar tracts	6311	ATXN2	ORPHA:98756
HP:0003133	Abnormality of the spinocerebellar tracts	2729	GCLC	OMIM:230450
HP:0003133	Abnormality of the spinocerebellar tracts	4125	MAN2B1	OMIM:248500
HP:0003131	Cystinuria	10157	AASS	ORPHA:2203
HP:0003131	Cystinuria	10157	AASS	ORPHA:3124
HP:0003131	Cystinuria	9581	PREPL	OMIM:616224
HP:0003131	Cystinuria	9581	PREPL	ORPHA:163690
HP:0003131	Cystinuria	9581	PREPL	ORPHA:163693
HP:0003131	Cystinuria	11136	SLC7A9	OMIM:220100
HP:0003131	Cystinuria	6519	SLC3A1	OMIM:220100
HP:0003131	Cystinuria	6519	SLC3A1	ORPHA:163690
HP:0003131	Cystinuria	6519	SLC3A1	ORPHA:163693
HP:0003131	Cystinuria	5495	PPM1B	ORPHA:163693
HP:0003131	Cystinuria	79823	CAMKMT	ORPHA:163693
HP:0003138	Increased blood urea nitrogen	8518	ELP1	OMIM:223900
HP:0003138	Increased blood urea nitrogen	1621	DBH	ORPHA:230
HP:0003138	Increased blood urea nitrogen	1621	DBH	OMIM:223360
HP:0003138	Increased blood urea nitrogen	51081	MRPS7	OMIM:617872
HP:0003138	Increased blood urea nitrogen	11093	ADAMTS13	OMIM:274150
HP:0003138	Increased blood urea nitrogen	4179	CD46	OMIM:612922
HP:0003138	Increased blood urea nitrogen	54938	SARS2	OMIM:613845
HP:0003138	Increased blood urea nitrogen	629	CFB	OMIM:612924
HP:0003138	Increased blood urea nitrogen	56606	SLC2A9	ORPHA:94088
HP:0003138	Increased blood urea nitrogen	116085	SLC22A12	ORPHA:94088
HP:0003138	Increased blood urea nitrogen	3426	CFI	OMIM:612923
HP:0003138	Increased blood urea nitrogen	7056	THBD	OMIM:612926
HP:0003138	Increased blood urea nitrogen	3075	CFH	OMIM:235400
HP:0003138	Increased blood urea nitrogen	3078	CFHR1	OMIM:235400
HP:0003138	Increased blood urea nitrogen	10878	CFHR3	OMIM:235400
HP:0003138	Increased blood urea nitrogen	718	C3	OMIM:612925
HP:0003138	Increased blood urea nitrogen	22909	FAN1	OMIM:614817
HP:0003138	Increased blood urea nitrogen	1161	ERCC8	ORPHA:90321
HP:0003138	Increased blood urea nitrogen	2072	ERCC4	ORPHA:90321
HP:0003138	Increased blood urea nitrogen	2074	ERCC6	ORPHA:90321
HP:0003138	Increased blood urea nitrogen	506	ATP5F1B	OMIM:620085
HP:0003138	Increased blood urea nitrogen	5277	PIGA	ORPHA:447
HP:0003139	Panhypogammaglobulinemia	7535	ZAP70	OMIM:269840
HP:0003139	Panhypogammaglobulinemia	3507	IGHM	OMIM:601495
HP:0003139	Panhypogammaglobulinemia	5896	RAG1	OMIM:601457
HP:0003139	Panhypogammaglobulinemia	5897	RAG2	OMIM:601457
HP:0003139	Panhypogammaglobulinemia	5994	RFXAP	ORPHA:572
HP:0003139	Panhypogammaglobulinemia	5994	RFXAP	OMIM:209920
HP:0003139	Panhypogammaglobulinemia	4261	CIITA	ORPHA:572
HP:0003139	Panhypogammaglobulinemia	4261	CIITA	OMIM:209920
HP:0003139	Panhypogammaglobulinemia	5993	RFX5	ORPHA:572
HP:0003139	Panhypogammaglobulinemia	5993	RFX5	OMIM:209920
HP:0003139	Panhypogammaglobulinemia	8625	RFXANK	ORPHA:572
HP:0003139	Panhypogammaglobulinemia	8625	RFXANK	OMIM:209920
HP:0003139	Panhypogammaglobulinemia	3718	JAK3	OMIM:600802
HP:0003139	Panhypogammaglobulinemia	5295	PIK3R1	OMIM:615214
HP:0003139	Panhypogammaglobulinemia	9652	SKIC3	ORPHA:84064
HP:0003139	Panhypogammaglobulinemia	6499	SKIC2	ORPHA:84064
HP:0003139	Panhypogammaglobulinemia	50615	IL21R	OMIM:615207
HP:0003139	Panhypogammaglobulinemia	695	BTK	OMIM:307200
HP:0003139	Panhypogammaglobulinemia	404672	GTF2H5	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	833	CARS1	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	2068	ERCC2	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	7737	RNF113A	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	136647	MPLKIP	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	6897	TARS1	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	2071	ERCC3	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	2961	GTF2E2	ORPHA:33364
HP:0003139	Panhypogammaglobulinemia	3431	SP110	ORPHA:79124
HP:0003139	Panhypogammaglobulinemia	64421	DCLRE1C	OMIM:602450
HP:0033790	Thistle tube shaped pulp	1834	DSPP	OMIM:125420
HP:0033794	Acral overgrowth	5573	PRKAR1A	OMIM:160980
HP:0033794	Acral overgrowth	284119	CAVIN1	OMIM:613327
HP:0033794	Acral overgrowth	9049	AIP	OMIM:102200
HP:0033794	Acral overgrowth	2778	GNAS	OMIM:174800
HP:0033794	Acral overgrowth	83550	GPR101	OMIM:300942
HP:0033796	Abnormal leukocyte physiology	83737	ITCH	OMIM:613385
HP:0033796	Abnormal leukocyte physiology	3117	HLA-DQA1	OMIM:212750
HP:0033796	Abnormal leukocyte physiology	3119	HLA-DQB1	OMIM:212750
HP:0033796	Abnormal leukocyte physiology	2475	MTOR	ORPHA:457485
HP:0033796	Abnormal leukocyte physiology	2475	MTOR	OMIM:616638
HP:0033796	Abnormal leukocyte physiology	284119	CAVIN1	OMIM:613327
HP:0033796	Abnormal leukocyte physiology	51604	PIGT	ORPHA:369837
HP:0033796	Abnormal leukocyte physiology	5336	PLCG2	OMIM:614878
HP:0033796	Abnormal leukocyte physiology	28956	LAMTOR2	OMIM:610798
HP:0033796	Abnormal leukocyte physiology	23387	SIK3	OMIM:618162
HP:0033796	Abnormal leukocyte physiology	5426	POLE	OMIM:615139
HP:0033796	Abnormal leukocyte physiology	4683	NBN	OMIM:251260
HP:0033796	Abnormal leukocyte physiology	5873	RAB27A	OMIM:607624
HP:0033796	Abnormal leukocyte physiology	6499	SKIC2	ORPHA:84064
HP:0033796	Abnormal leukocyte physiology	833	CARS1	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	136647	MPLKIP	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	6897	TARS1	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	2071	ERCC3	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	2961	GTF2E2	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	64170	CARD9	OMIM:212050
HP:0033796	Abnormal leukocyte physiology	7454	WAS	OMIM:301000
HP:0033796	Abnormal leukocyte physiology	7454	WAS	OMIM:313900
HP:0033796	Abnormal leukocyte physiology	1041	CDSN	ORPHA:90368
HP:0033796	Abnormal leukocyte physiology	1041	CDSN	OMIM:270300
HP:0033796	Abnormal leukocyte physiology	121391	KRT74	ORPHA:90368
HP:0033796	Abnormal leukocyte physiology	6777	STAT5B	OMIM:618985
HP:0033796	Abnormal leukocyte physiology	50943	FOXP3	OMIM:304790
HP:0033796	Abnormal leukocyte physiology	50943	FOXP3	ORPHA:37042
HP:0033796	Abnormal leukocyte physiology	3857	KRT9	OMIM:144200
HP:0033796	Abnormal leukocyte physiology	6774	STAT3	OMIM:147060
HP:0033796	Abnormal leukocyte physiology	6774	STAT3	ORPHA:2314
HP:0033796	Abnormal leukocyte physiology	1294	COL7A1	ORPHA:89843
HP:0033796	Abnormal leukocyte physiology	7297	TYK2	OMIM:611521
HP:0033796	Abnormal leukocyte physiology	51135	IRAK4	OMIM:607676
HP:0033796	Abnormal leukocyte physiology	84905	ZNF341	OMIM:618282
HP:0033796	Abnormal leukocyte physiology	2239	GPC4	ORPHA:373
HP:0033796	Abnormal leukocyte physiology	2719	GPC3	ORPHA:373
HP:0033796	Abnormal leukocyte physiology	7941	PLA2G7	OMIM:147050
HP:0033796	Abnormal leukocyte physiology	50615	IL21R	OMIM:147050
HP:0033796	Abnormal leukocyte physiology	3566	IL4R	OMIM:147050
HP:0033796	Abnormal leukocyte physiology	2206	MS4A2	OMIM:147050
HP:0033796	Abnormal leukocyte physiology	1956	EGFR	OMIM:616069
HP:0033796	Abnormal leukocyte physiology	84433	CARD11	OMIM:617638
HP:0033796	Abnormal leukocyte physiology	6868	ADAM17	OMIM:614328
HP:0033796	Abnormal leukocyte physiology	56160	NSMCE3	OMIM:617241
HP:0033796	Abnormal leukocyte physiology	1828	DSG1	OMIM:615508
HP:0033796	Abnormal leukocyte physiology	3559	IL2RA	OMIM:606367
HP:0033796	Abnormal leukocyte physiology	3071	NCKAP1L	OMIM:618982
HP:0033796	Abnormal leukocyte physiology	595	CCND1	ORPHA:29073
HP:0033796	Abnormal leukocyte physiology	29775	CARD10	OMIM:619632
HP:0033796	Abnormal leukocyte physiology	51371	POMP	OMIM:618048
HP:0033796	Abnormal leukocyte physiology	10526	IPO8	OMIM:619472
HP:0033796	Abnormal leukocyte physiology	5238	PGM3	ORPHA:443811
HP:0033796	Abnormal leukocyte physiology	5238	PGM3	OMIM:615816
HP:0033796	Abnormal leukocyte physiology	340061	STING1	OMIM:615934
HP:0033796	Abnormal leukocyte physiology	3575	IL7R	ORPHA:169154
HP:0033796	Abnormal leukocyte physiology	81704	DOCK8	OMIM:243700
HP:0033796	Abnormal leukocyte physiology	7174	TPP2	OMIM:619220
HP:0033796	Abnormal leukocyte physiology	22861	NLRP1	OMIM:617388
HP:0033796	Abnormal leukocyte physiology	3560	IL2RB	OMIM:618495
HP:0033796	Abnormal leukocyte physiology	3459	IFNGR1	OMIM:209950
HP:0033796	Abnormal leukocyte physiology	5696	PSMB8	OMIM:256040
HP:0033796	Abnormal leukocyte physiology	404672	GTF2H5	OMIM:616395
HP:0033796	Abnormal leukocyte physiology	2859	GPR35	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	10507	SEMA4D	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	4485	MST1	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	6925	TCF4	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	200942	KLHDC8B	OMIM:236000
HP:0033796	Abnormal leukocyte physiology	90268	OTULIN	OMIM:617099
HP:0033796	Abnormal leukocyte physiology	3594	IL12RB1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	23534	TNPO3	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	3592	IL12A	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	6689	SPIB	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	5450	POU2AF1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	9966	TNFSF15	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	79258	MMEL1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	3663	IRF5	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	10159	ATP6AP2	OMIM:301045
HP:0033796	Abnormal leukocyte physiology	83483	PLVAP	OMIM:618183
HP:0033796	Abnormal leukocyte physiology	51750	RTEL1	OMIM:615190
HP:0033796	Abnormal leukocyte physiology	3551	IKBKB	OMIM:615592
HP:0033796	Abnormal leukocyte physiology	5728	PTEN	OMIM:605309
HP:0033796	Abnormal leukocyte physiology	5728	PTEN	OMIM:158350
HP:0033796	Abnormal leukocyte physiology	8737	RIPK1	OMIM:618108
HP:0033796	Abnormal leukocyte physiology	113235	SLC46A1	ORPHA:90045
HP:0033796	Abnormal leukocyte physiology	2316	FLNA	ORPHA:99811
HP:0033796	Abnormal leukocyte physiology	4522	MTHFD1	OMIM:617780
HP:0033796	Abnormal leukocyte physiology	939	CD27	OMIM:615122
HP:0033796	Abnormal leukocyte physiology	10525	HYOU1	OMIM:233600
HP:0033796	Abnormal leukocyte physiology	4790	NFKB1	OMIM:616576
HP:0033796	Abnormal leukocyte physiology	4790	NFKB1	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	114803	MYSM1	OMIM:618116
HP:0033796	Abnormal leukocyte physiology	79840	NHEJ1	ORPHA:169079
HP:0033796	Abnormal leukocyte physiology	6023	RMRP	ORPHA:175
HP:0033796	Abnormal leukocyte physiology	7037	TFRC	OMIM:616740
HP:0033796	Abnormal leukocyte physiology	4125	MAN2B1	OMIM:248500
HP:0033796	Abnormal leukocyte physiology	10111	RAD50	OMIM:613078
HP:0033796	Abnormal leukocyte physiology	9839	ZEB2	ORPHA:261552
HP:0033796	Abnormal leukocyte physiology	9839	ZEB2	ORPHA:261537
HP:0033796	Abnormal leukocyte physiology	4478	MSN	OMIM:300988
HP:0033796	Abnormal leukocyte physiology	3070	HELLS	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	3070	HELLS	OMIM:616911
HP:0033796	Abnormal leukocyte physiology	1789	DNMT3B	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	83879	CDCA7	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	83879	CDCA7	OMIM:616910
HP:0033796	Abnormal leukocyte physiology	10320	IKZF1	OMIM:616873
HP:0033796	Abnormal leukocyte physiology	8742	TNFSF12	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	970	CD70	OMIM:618261
HP:0033796	Abnormal leukocyte physiology	57217	TTC7A	OMIM:243150
HP:0033796	Abnormal leukocyte physiology	51095	TRNT1	OMIM:616084
HP:0033796	Abnormal leukocyte physiology	9508	ADAMTS3	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	147372	CCBE1	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	79633	FAT4	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	3507	IGHM	OMIM:601495
HP:0033796	Abnormal leukocyte physiology	493856	CISD2	OMIM:604928
HP:0033796	Abnormal leukocyte physiology	8915	BCL10	OMIM:616098
HP:0033796	Abnormal leukocyte physiology	4780	NFE2L2	OMIM:617744
HP:0033796	Abnormal leukocyte physiology	51816	ADA2	OMIM:615688
HP:0033796	Abnormal leukocyte physiology	6117	RPA1	OMIM:619767
HP:0033796	Abnormal leukocyte physiology	10165	SLC25A13	ORPHA:247598
HP:0033796	Abnormal leukocyte physiology	4938	OAS1	OMIM:618042
HP:0033796	Abnormal leukocyte physiology	7157	TP53	OMIM:618165
HP:0033796	Abnormal leukocyte physiology	9652	SKIC3	OMIM:222470
HP:0033796	Abnormal leukocyte physiology	27040	LAT	OMIM:617514
HP:0033796	Abnormal leukocyte physiology	9939	RBM8A	OMIM:274000
HP:0033796	Abnormal leukocyte physiology	1604	CD55	OMIM:226300
HP:0033796	Abnormal leukocyte physiology	3852	KRT5	ORPHA:79396
HP:0033796	Abnormal leukocyte physiology	3861	KRT14	ORPHA:79396
HP:0033796	Abnormal leukocyte physiology	219285	SAMD9L	ORPHA:2585
HP:0033796	Abnormal leukocyte physiology	2137	EXTL3	ORPHA:508533
HP:0033796	Abnormal leukocyte physiology	3561	IL2RG	ORPHA:276
HP:0033796	Abnormal leukocyte physiology	3561	IL2RG	OMIM:312863
HP:0033796	Abnormal leukocyte physiology	3561	IL2RG	OMIM:300400
HP:0033796	Abnormal leukocyte physiology	355	FAS	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	356	FASLG	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	5580	PRKCD	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	843	CASP10	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	10125	RASGRP1	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	10125	RASGRP1	OMIM:618534
HP:0033796	Abnormal leukocyte physiology	64421	DCLRE1C	ORPHA:275
HP:0033796	Abnormal leukocyte physiology	695	BTK	OMIM:300755
HP:0033796	Abnormal leukocyte physiology	10043	TOM1	OMIM:619510
HP:0033796	Abnormal leukocyte physiology	3572	IL6ST	OMIM:619752
HP:0033796	Abnormal leukocyte physiology	3702	ITK	OMIM:613011
HP:0033796	Abnormal leukocyte physiology	115650	TNFRSF13C	OMIM:613494
HP:0033796	Abnormal leukocyte physiology	115650	TNFRSF13C	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	5295	PIK3R1	OMIM:616005
HP:0033796	Abnormal leukocyte physiology	9841	ZBTB24	OMIM:614069
HP:0033796	Abnormal leukocyte physiology	5880	RAC2	OMIM:618986
HP:0033796	Abnormal leukocyte physiology	5880	RAC2	OMIM:618987
HP:0033796	Abnormal leukocyte physiology	3932	LCK	OMIM:615758
HP:0033796	Abnormal leukocyte physiology	6948	TCN2	OMIM:275350
HP:0033796	Abnormal leukocyte physiology	6948	TCN2	ORPHA:859
HP:0033796	Abnormal leukocyte physiology	3570	IL6R	OMIM:618944
HP:0033796	Abnormal leukocyte physiology	987	LRBA	OMIM:614700
HP:0033796	Abnormal leukocyte physiology	8517	IKBKG	OMIM:301081
HP:0033796	Abnormal leukocyte physiology	54440	SASH3	OMIM:301082
HP:0033796	Abnormal leukocyte physiology	959	CD40LG	OMIM:308230
HP:0033796	Abnormal leukocyte physiology	4796	TONSL	OMIM:271510
HP:0033796	Abnormal leukocyte physiology	4247	MGAT2	ORPHA:79329
HP:0033796	Abnormal leukocyte physiology	7555	CNBP	OMIM:602668
HP:0033796	Abnormal leukocyte physiology	1457	CSNK2A1	OMIM:617062
HP:0033796	Abnormal leukocyte physiology	57379	AICDA	OMIM:605258
HP:0033796	Abnormal leukocyte physiology	374354	NHLRC2	OMIM:618278
HP:0033796	Abnormal leukocyte physiology	60468	BACH2	OMIM:618394
HP:0033796	Abnormal leukocyte physiology	974	CD79B	OMIM:612692
HP:0033796	Abnormal leukocyte physiology	5788	PTPRC	OMIM:619924
HP:0033796	Abnormal leukocyte physiology	11005	SPINK5	OMIM:256500
HP:0033796	Abnormal leukocyte physiology	641	BLM	OMIM:210900
HP:0033796	Abnormal leukocyte physiology	641	BLM	ORPHA:125
HP:0033796	Abnormal leukocyte physiology	841	CASP8	OMIM:607271
HP:0033796	Abnormal leukocyte physiology	472	ATM	OMIM:208900
HP:0033796	Abnormal leukocyte physiology	59067	IL21	OMIM:615767
HP:0033796	Abnormal leukocyte physiology	29760	BLNK	OMIM:613502
HP:0033796	Abnormal leukocyte physiology	5294	PIK3CG	OMIM:619802
HP:0033796	Abnormal leukocyte physiology	7841	MOGS	ORPHA:79330
HP:0033796	Abnormal leukocyte physiology	331	XIAP	OMIM:308240
HP:0033796	Abnormal leukocyte physiology	4068	SH2D1A	OMIM:308240
HP:0033796	Abnormal leukocyte physiology	29851	ICOS	OMIM:607594
HP:0033796	Abnormal leukocyte physiology	29851	ICOS	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	7298	TYMS	OMIM:620040
HP:0033796	Abnormal leukocyte physiology	57724	EPG5	OMIM:242840
HP:0033796	Abnormal leukocyte physiology	57724	EPG5	ORPHA:1493
HP:0033796	Abnormal leukocyte physiology	915	CD3D	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	916	CD3E	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	919	CD247	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	65082	VPS33A	ORPHA:505248
HP:0033796	Abnormal leukocyte physiology	5966	REL	OMIM:619652
HP:0033796	Abnormal leukocyte physiology	55687	TRMU	OMIM:613070
HP:0033796	Abnormal leukocyte physiology	23495	TNFRSF13B	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	930	CD19	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	3978	LIG1	OMIM:619774
HP:0033796	Abnormal leukocyte physiology	6651	SON	ORPHA:500150
HP:0033796	Abnormal leukocyte physiology	1493	CTLA4	OMIM:616100
HP:0033796	Abnormal leukocyte physiology	4791	NFKB2	OMIM:615577
HP:0033796	Abnormal leukocyte physiology	7852	CXCR4	OMIM:193670
HP:0033796	Abnormal leukocyte physiology	5896	RAG1	ORPHA:331206
HP:0033796	Abnormal leukocyte physiology	5896	RAG1	OMIM:233650
HP:0033796	Abnormal leukocyte physiology	5897	RAG2	ORPHA:331206
HP:0033796	Abnormal leukocyte physiology	5897	RAG2	OMIM:233650
HP:0033796	Abnormal leukocyte physiology	8792	TNFRSF11A	OMIM:612301
HP:0033796	Abnormal leukocyte physiology	5557	PRIM1	OMIM:620005
HP:0033796	Abnormal leukocyte physiology	3431	SP110	OMIM:235550
HP:0033796	Abnormal leukocyte physiology	79087	ALG12	OMIM:607143
HP:0033796	Abnormal leukocyte physiology	51311	TLR8	OMIM:301078
HP:0033796	Abnormal leukocyte physiology	2068	ERCC2	OMIM:601675
HP:0033796	Abnormal leukocyte physiology	7374	UNG	OMIM:608106
HP:0033796	Abnormal leukocyte physiology	958	CD40	OMIM:606843
HP:0033796	Abnormal leukocyte physiology	567	B2M	OMIM:241600
HP:0033796	Abnormal leukocyte physiology	8884	SLC5A6	OMIM:618973
HP:0033796	Abnormal leukocyte physiology	96459	FNIP1	OMIM:619705
HP:0033796	Abnormal leukocyte physiology	359948	IRF2BP2	OMIM:617765
HP:0033796	Abnormal leukocyte physiology	6688	SPI1	OMIM:619707
HP:0033796	Abnormal leukocyte physiology	9138	ARHGEF1	OMIM:618459
HP:0033796	Abnormal leukocyte physiology	84888	SPPL2A	OMIM:619549
HP:0033796	Abnormal leukocyte physiology	6929	TCF3	OMIM:619824
HP:0033796	Abnormal leukocyte physiology	165918	RNF168	OMIM:611943
HP:0033796	Abnormal leukocyte physiology	165918	RNF168	ORPHA:420741
HP:0033796	Abnormal leukocyte physiology	8883	NAE1	OMIM:620210
HP:0033796	Abnormal leukocyte physiology	5373	PMM2	OMIM:212065
HP:0033796	Abnormal leukocyte physiology	7922	SLC39A7	OMIM:619693
HP:0033796	Abnormal leukocyte physiology	1678	TIMM8A	ORPHA:52368
HP:0033796	Abnormal leukocyte physiology	973	CD79A	OMIM:613501
HP:0033796	Abnormal leukocyte physiology	973	CD79A	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	3543	IGLL1	OMIM:613500
HP:0033796	Abnormal leukocyte physiology	3543	IGLL1	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	56262	LRRC8A	OMIM:613506
HP:0033796	Abnormal leukocyte physiology	56262	LRRC8A	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	5994	RFXAP	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	4261	CIITA	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	5993	RFX5	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	8625	RFXANK	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	204	AK2	OMIM:267500
HP:0033796	Abnormal leukocyte physiology	4860	PNP	OMIM:613179
HP:0033796	Abnormal leukocyte physiology	3718	JAK3	OMIM:600802
HP:0033796	Abnormal leukocyte physiology	3953	LEPR	ORPHA:179494
HP:0033796	Abnormal leukocyte physiology	3952	LEP	ORPHA:66628
HP:0033796	Abnormal leukocyte physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0033796	Abnormal leukocyte physiology	7040	TGFB1	OMIM:618213
HP:0033796	Abnormal leukocyte physiology	146206	CARMIL2	OMIM:618131
HP:0033796	Abnormal leukocyte physiology	100	ADA	OMIM:102700
HP:0033796	Abnormal leukocyte physiology	56259	CTNNBL1	OMIM:619846
HP:0033796	Abnormal leukocyte physiology	7372	UMPS	ORPHA:30
HP:0033796	Abnormal leukocyte physiology	7372	UMPS	OMIM:258900
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	OMIM:188400
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	55630	SLC39A4	OMIM:201100
HP:0033796	Abnormal leukocyte physiology	57511	COG6	OMIM:614576
HP:0033796	Abnormal leukocyte physiology	9993	DGCR2	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	8220	ESS2	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	8214	DGCR6	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	54487	DGCR8	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	1312	COMT	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	221037	JMJD1C	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	2812	GP1BB	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	6239	RREB1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	7290	HIRA	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	9632	SEC24C	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	7353	UFD1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	421	ARVCF	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	4615	MYD88	ORPHA:33226
HP:0033796	Abnormal leukocyte physiology	4615	MYD88	OMIM:153600
HP:0033796	Abnormal leukocyte physiology	84876	ORAI1	OMIM:612782
HP:0033796	Abnormal leukocyte physiology	6786	STIM1	OMIM:612783
HP:0033796	Abnormal leukocyte physiology	940	CD28	ORPHA:3162
HP:0033796	Abnormal leukocyte physiology	7133	TNFRSF1B	ORPHA:3162
HP:0033796	Abnormal leukocyte physiology	50485	SMARCAL1	OMIM:242900
HP:0033796	Abnormal leukocyte physiology	6729	SRP54	OMIM:618752
HP:0033796	Abnormal leukocyte physiology	9056	SLC7A7	ORPHA:470
HP:0033796	Abnormal leukocyte physiology	213	ALB	ORPHA:86816
HP:0033796	Abnormal leukocyte physiology	3845	KRAS	OMIM:614470
HP:0033796	Abnormal leukocyte physiology	4893	NRAS	OMIM:614470
HP:0033796	Abnormal leukocyte physiology	6440	SFTPC	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	727897	MUC5B	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	729238	SFTPA2	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	7015	TERT	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	11311	VPS45	OMIM:615285
HP:0033796	Abnormal leukocyte physiology	5184	PEPD	OMIM:170100
HP:0033796	Abnormal leukocyte physiology	1277	COL1A1	ORPHA:1310
HP:0033796	Abnormal leukocyte physiology	3123	HLA-DRB1	OMIM:181000
HP:0033796	Abnormal leukocyte physiology	5692	PSMB4	OMIM:617591
HP:0033796	Abnormal leukocyte physiology	5698	PSMB9	OMIM:617591
HP:0033796	Abnormal leukocyte physiology	2629	GBA1	ORPHA:77261
HP:0033796	Abnormal leukocyte physiology	2629	GBA1	ORPHA:77259
HP:0033796	Abnormal leukocyte physiology	9051	PSTPIP1	ORPHA:69126
HP:0033796	Abnormal leukocyte physiology	23064	SETX	OMIM:606002
HP:0033796	Abnormal leukocyte physiology	1991	ELANE	OMIM:202700
HP:0033796	Abnormal leukocyte physiology	950	SCARB2	ORPHA:77259
HP:0033796	Abnormal leukocyte physiology	2625	GATA3	ORPHA:2237
HP:0033796	Abnormal leukocyte physiology	6813	STXBP2	OMIM:613101
HP:0033796	Abnormal leukocyte physiology	5551	PRF1	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	5551	PRF1	OMIM:603553
HP:0033796	Abnormal leukocyte physiology	8676	STX11	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	201294	UNC13D	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	201294	UNC13D	OMIM:608898
HP:0033796	Abnormal leukocyte physiology	58484	NLRC4	OMIM:616050
HP:0033796	Abnormal leukocyte physiology	3937	LCP2	OMIM:619374
HP:0033796	Abnormal leukocyte physiology	7456	WIPF1	OMIM:614493
HP:0033796	Abnormal leukocyte physiology	2214	FCGR3A	OMIM:615707
HP:0033796	Abnormal leukocyte physiology	8546	AP3B1	OMIM:608233
HP:0033796	Abnormal leukocyte physiology	975	CD81	OMIM:613496
HP:0033796	Abnormal leukocyte physiology	1503	CTPS1	OMIM:615897
HP:0033796	Abnormal leukocyte physiology	7535	ZAP70	OMIM:617006
HP:0033796	Abnormal leukocyte physiology	5293	PIK3CD	OMIM:615513
HP:0033796	Abnormal leukocyte physiology	3514	IGKC	ORPHA:183675
HP:0033796	Abnormal leukocyte physiology	3501	IGHG2	ORPHA:183675
HP:0033796	Abnormal leukocyte physiology	57591	MRTFA	OMIM:618847
HP:0033796	Abnormal leukocyte physiology	3981	LIG4	OMIM:254500
HP:0033796	Abnormal leukocyte physiology	84061	MAGT1	OMIM:300853
HP:0033796	Abnormal leukocyte physiology	50619	DEF6	OMIM:619573
HP:0033796	Abnormal leukocyte physiology	6772	STAT1	OMIM:614162
HP:0033796	Abnormal leukocyte physiology	55388	MCM10	OMIM:619313
HP:0033796	Abnormal leukocyte physiology	55719	SLF2	OMIM:620184
HP:0033796	Abnormal leukocyte physiology	1794	DOCK2	OMIM:616433
HP:0033796	Abnormal leukocyte physiology	23765	IL17RA	OMIM:613953
HP:0033796	Abnormal leukocyte physiology	4000	LMNA	ORPHA:300751
HP:0033796	Abnormal leukocyte physiology	6850	SYK	OMIM:619381
HP:0033796	Abnormal leukocyte physiology	10625	IVNS1ABP	OMIM:618969
HP:0033796	Abnormal leukocyte physiology	537	ATP6AP1	OMIM:300972
HP:0033796	Abnormal leukocyte physiology	90417	KNSTRN	ORPHA:221139
HP:0033796	Abnormal leukocyte physiology	931	MS4A1	OMIM:613495
HP:0033796	Abnormal leukocyte physiology	64135	IFIH1	OMIM:619773
HP:0033796	Abnormal leukocyte physiology	30011	SH3KBP1	OMIM:300310
HP:0033796	Abnormal leukocyte physiology	917	CD3G	OMIM:615607
HP:0033796	Abnormal leukocyte physiology	7737	RNF113A	OMIM:300953
HP:0033796	Abnormal leukocyte physiology	1380	CR2	OMIM:614699
HP:0033796	Abnormal leukocyte physiology	6773	STAT2	OMIM:616636
HP:0033796	Abnormal leukocyte physiology	3394	IRF8	OMIM:226990
HP:0033796	Abnormal leukocyte physiology	4598	MVK	OMIM:260920
HP:0033796	Abnormal leukocyte physiology	4598	MVK	OMIM:610377
HP:0033796	Abnormal leukocyte physiology	55343	SLC35C1	ORPHA:99843
HP:0033796	Abnormal leukocyte physiology	10892	MALT1	OMIM:615468
HP:0033796	Abnormal leukocyte physiology	11151	CORO1A	OMIM:615401
HP:0033799	Abnormal circulating sex hormone concentration	254394	MCM9	OMIM:616185
HP:0033799	Abnormal circulating sex hormone concentration	402381	SOHLH1	OMIM:617690
HP:0033799	Abnormal circulating sex hormone concentration	79625	NDNF	OMIM:618841
HP:0033799	Abnormal circulating sex hormone concentration	2100	ESR2	OMIM:618187
HP:0033799	Abnormal circulating sex hormone concentration	2796	GNRH1	OMIM:614841
HP:0033799	Abnormal circulating sex hormone concentration	3814	KISS1	OMIM:614842
HP:0033799	Abnormal circulating sex hormone concentration	8314	BAP1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	4771	NF2	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	5155	PDGFB	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	84231	TRAF7	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6608	SMO	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	207	AKT1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	51684	SUFU	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	646	BNC1	OMIM:618723
HP:0033799	Abnormal circulating sex hormone concentration	646	BNC1	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0033799	Abnormal circulating sex hormone concentration	125150	ZSWIM7	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	80067	DCAF17	ORPHA:3464
HP:0033799	Abnormal circulating sex hormone concentration	7490	WT1	ORPHA:347
HP:0033799	Abnormal circulating sex hormone concentration	7490	WT1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	29893	PSMC3IP	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	171568	POLR3H	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	2516	NR5A1	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	2516	NR5A1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	9210	BMP15	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	57122	NUP107	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	23514	SPIDR	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	23514	SPIDR	OMIM:619665
HP:0033799	Abnormal circulating sex hormone concentration	2492	FSHR	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	56945	MRPS22	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	56945	MRPS22	OMIM:618117
HP:0033799	Abnormal circulating sex hormone concentration	9150	CTDP1	OMIM:604168
HP:0033799	Abnormal circulating sex hormone concentration	7516	XRCC2	OMIM:619146
HP:0033799	Abnormal circulating sex hormone concentration	2488	FSHB	ORPHA:52901
HP:0033799	Abnormal circulating sex hormone concentration	2661	GDF9	OMIM:618014
HP:0033799	Abnormal circulating sex hormone concentration	389549	FEZF1	OMIM:616030
HP:0033799	Abnormal circulating sex hormone concentration	1528	CYB5A	ORPHA:90796
HP:0033799	Abnormal circulating sex hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0033799	Abnormal circulating sex hormone concentration	23395	LARS2	OMIM:615300
HP:0033799	Abnormal circulating sex hormone concentration	3953	LEPR	ORPHA:179494
HP:0033799	Abnormal circulating sex hormone concentration	6662	SOX9	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	6845	VAMP7	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	51741	WWOX	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	58524	DMRT3	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	57647	DHX37	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	6736	SRY	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	190	NR0B1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	2626	GATA4	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	3952	LEP	ORPHA:66628
HP:0033799	Abnormal circulating sex hormone concentration	10371	SEMA3A	OMIM:614897
HP:0033799	Abnormal circulating sex hormone concentration	10734	STAG3	OMIM:615723
HP:0033799	Abnormal circulating sex hormone concentration	50846	DHH	ORPHA:168563
HP:0033799	Abnormal circulating sex hormone concentration	1967	EIF2B1	OMIM:603896
HP:0033799	Abnormal circulating sex hormone concentration	5447	POR	OMIM:201750
HP:0033799	Abnormal circulating sex hormone concentration	668	FOXL2	ORPHA:572333
HP:0033799	Abnormal circulating sex hormone concentration	367	AR	ORPHA:90797
HP:0033799	Abnormal circulating sex hormone concentration	54766	BTG4	OMIM:619009
HP:0033799	Abnormal circulating sex hormone concentration	11128	POLR3A	ORPHA:3455
HP:0033799	Abnormal circulating sex hormone concentration	2908	NR3C1	OMIM:615962
HP:0033799	Abnormal circulating sex hormone concentration	54361	WNT4	OMIM:158330
HP:0033799	Abnormal circulating sex hormone concentration	1584	CYP11B1	OMIM:202010
HP:0033799	Abnormal circulating sex hormone concentration	1584	CYP11B1	ORPHA:90795
HP:0033799	Abnormal circulating sex hormone concentration	84133	ZNRF3	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	7157	TP53	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	5573	PRKAR1A	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	1499	CTNNB1	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	1029	CDKN2A	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	7015	TERT	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	6875	TAF4B	OMIM:615841
HP:0033799	Abnormal circulating sex hormone concentration	84225	ZMYND15	OMIM:615842
HP:0033799	Abnormal circulating sex hormone concentration	2099	ESR1	ORPHA:785
HP:0033799	Abnormal circulating sex hormone concentration	93426	SYCE1	OMIM:616950
HP:0033799	Abnormal circulating sex hormone concentration	8468	FKBP6	OMIM:620103
HP:0033799	Abnormal circulating sex hormone concentration	4438	MSH4	OMIM:108420
HP:0033799	Abnormal circulating sex hormone concentration	201134	CEP112	OMIM:619044
HP:0033799	Abnormal circulating sex hormone concentration	2778	GNAS	ORPHA:562
HP:0033799	Abnormal circulating sex hormone concentration	7026	NR2F2	OMIM:618901
HP:0033799	Abnormal circulating sex hormone concentration	7840	ALMS1	ORPHA:64
HP:0033799	Abnormal circulating sex hormone concentration	1201	CLN3	ORPHA:228346
HP:0033799	Abnormal circulating sex hormone concentration	3643	INSR	ORPHA:769
HP:0033799	Abnormal circulating sex hormone concentration	29929	ALG6	ORPHA:79320
HP:0033799	Abnormal circulating sex hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0033799	Abnormal circulating sex hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0033799	Abnormal circulating sex hormone concentration	4791	NFKB2	ORPHA:293978
HP:0033799	Abnormal circulating sex hormone concentration	56246	MRAP	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	6770	STAR	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	4158	MC2R	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	23530	NNT	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	10587	TXNRD2	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	3284	HSD3B2	OMIM:201810
HP:0033799	Abnormal circulating sex hormone concentration	2260	FGFR1	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	81848	SPRY4	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	128674	PROKR2	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	2253	FGF8	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	60675	PROK2	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55636	CHD7	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6870	TACR3	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	1848	DUSP6	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	26012	NSMF	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55717	WDR11	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	9394	HS6ST1	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	2798	GNRHR	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	84634	KISS1R	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6866	TAC3	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6866	TAC3	OMIM:614839
HP:0033799	Abnormal circulating sex hormone concentration	8822	FGF17	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55131	RBM28	ORPHA:157954
HP:0033799	Abnormal circulating sex hormone concentration	2245	FGD1	OMIM:305400
HP:0033799	Abnormal circulating sex hormone concentration	23312	DMXL2	ORPHA:453533
HP:0033799	Abnormal circulating sex hormone concentration	3972	LHB	OMIM:228300
HP:0033799	Abnormal circulating sex hormone concentration	1363	CPE	OMIM:619326
HP:0033799	Abnormal circulating sex hormone concentration	5422	POLA1	ORPHA:163976
HP:0033799	Abnormal circulating sex hormone concentration	57697	FANCM	OMIM:618086
HP:0033799	Abnormal circulating sex hormone concentration	654	BMP6	ORPHA:465508
HP:0033799	Abnormal circulating sex hormone concentration	3077	HFE	ORPHA:465508
HP:0033799	Abnormal circulating sex hormone concentration	55366	LGR4	OMIM:619613
HP:0033799	Abnormal circulating sex hormone concentration	2583	B4GALNT1	ORPHA:101006
HP:0033799	Abnormal circulating sex hormone concentration	2583	B4GALNT1	OMIM:609195
HP:0033799	Abnormal circulating sex hormone concentration	3730	ANOS1	OMIM:308700
HP:0033799	Abnormal circulating sex hormone concentration	93953	GCNA	OMIM:301077
HP:0033799	Abnormal circulating sex hormone concentration	55630	SLC39A4	OMIM:201100
HP:0003145	Decreased adenosylcobalamin	55788	LMBRD1	OMIM:277380
HP:0003145	Decreased adenosylcobalamin	55788	LMBRD1	ORPHA:79284
HP:0003145	Decreased adenosylcobalamin	5826	ABCD4	OMIM:614857
HP:0003145	Decreased adenosylcobalamin	27249	MMADHC	OMIM:277410
HP:0003145	Decreased adenosylcobalamin	326625	MMAB	OMIM:251110
HP:0003145	Decreased adenosylcobalamin	25974	MMACHC	OMIM:277400
HP:0003145	Decreased adenosylcobalamin	5052	PRDX1	OMIM:277400
HP:0003145	Decreased adenosylcobalamin	166785	MMAA	OMIM:251100
HP:0003148	Elevated serum acid phosphatase	4982	TNFRSF11B	OMIM:239000
HP:0003148	Elevated serum acid phosphatase	4041	LRP5	OMIM:607634
HP:0003148	Elevated serum acid phosphatase	4952	OCRL	OMIM:309000
HP:0003148	Elevated serum acid phosphatase	760	CA2	OMIM:259730
HP:0003148	Elevated serum acid phosphatase	760	CA2	ORPHA:2785
HP:0003148	Elevated serum acid phosphatase	1186	CLCN7	OMIM:166600
HP:0003148	Elevated serum acid phosphatase	5660	PSAP	OMIM:610539
HP:0003146	Hypocholesterolemia	51128	SAR1B	OMIM:246700
HP:0003146	Hypocholesterolemia	51128	SAR1B	ORPHA:71
HP:0003146	Hypocholesterolemia	1717	DHCR7	OMIM:270400
HP:0003146	Hypocholesterolemia	4547	MTTP	ORPHA:14
HP:0003146	Hypocholesterolemia	80270	HSD3B7	OMIM:607765
HP:0003146	Hypocholesterolemia	2222	FDFT1	OMIM:618156
HP:0003146	Hypocholesterolemia	89910	UBE3B	OMIM:244450
HP:0003146	Hypocholesterolemia	5193	PEX12	OMIM:266510
HP:0003146	Hypocholesterolemia	5406	PNLIP	OMIM:614338
HP:0003146	Hypocholesterolemia	55210	ATAD3A	OMIM:618810
HP:0003146	Hypocholesterolemia	201163	FLCN	OMIM:610883
HP:0003146	Hypocholesterolemia	6307	MSMO1	OMIM:616834
HP:0003146	Hypocholesterolemia	338	APOB	OMIM:615558
HP:0003146	Hypocholesterolemia	19	ABCA1	ORPHA:31150
HP:0003146	Hypocholesterolemia	5373	PMM2	OMIM:212065
HP:0003146	Hypocholesterolemia	5660	PSAP	OMIM:610539
HP:0003146	Hypocholesterolemia	79087	ALG12	ORPHA:79324
HP:0003144	Increased serum serotonin	4221	MEN1	ORPHA:652
HP:0003144	Increased serum serotonin	1027	CDKN1B	ORPHA:652
HP:0003144	Increased serum serotonin	1026	CDKN1A	ORPHA:652
HP:0003144	Increased serum serotonin	1030	CDKN2B	ORPHA:652
HP:0003144	Increased serum serotonin	1031	CDKN2C	ORPHA:652
HP:0003144	Increased serum serotonin	1616	DAXX	ORPHA:100075
HP:0003144	Increased serum serotonin	546	ATRX	ORPHA:100075
HP:0003144	Increased serum serotonin	4204	MECP2	OMIM:300496
HP:0003144	Increased serum serotonin	57502	NLGN4X	OMIM:300495
HP:0003144	Increased serum serotonin	54413	NLGN3	OMIM:300425
HP:0003144	Increased serum serotonin	57477	SHROOM4	ORPHA:85288
HP:0003144	Increased serum serotonin	6638	SNRPN	OMIM:209850
HP:0003144	Increased serum serotonin	6999	TDO2	OMIM:600627
HP:0003144	Increased serum serotonin	6392	SDHD	ORPHA:100093
HP:0003153	Cystathioninuria	1491	CTH	OMIM:219500
HP:0003153	Cystathioninuria	1491	CTH	ORPHA:212
HP:0003153	Cystathioninuria	55788	LMBRD1	OMIM:277380
HP:0003153	Cystathioninuria	25974	MMACHC	OMIM:277400
HP:0003153	Cystathioninuria	5052	PRDX1	OMIM:277400
HP:0003154	Increased circulating ACTH level	84196	USP48	ORPHA:96253
HP:0003154	Increased circulating ACTH level	7157	TP53	ORPHA:96253
HP:0003154	Increased circulating ACTH level	9101	USP8	ORPHA:96253
HP:0003154	Increased circulating ACTH level	9101	USP8	OMIM:219090
HP:0003154	Increased circulating ACTH level	64072	CDH23	ORPHA:96253
HP:0003154	Increased circulating ACTH level	2908	NR3C1	ORPHA:96253
HP:0003154	Increased circulating ACTH level	2908	NR3C1	ORPHA:786
HP:0003154	Increased circulating ACTH level	2908	NR3C1	OMIM:615962
HP:0003154	Increased circulating ACTH level	673	BRAF	ORPHA:96253
HP:0003154	Increased circulating ACTH level	546	ATRX	ORPHA:96253
HP:0003154	Increased circulating ACTH level	546	ATRX	ORPHA:100075
HP:0003154	Increased circulating ACTH level	5447	POR	OMIM:201750
HP:0003154	Increased circulating ACTH level	5447	POR	OMIM:613571
HP:0003154	Increased circulating ACTH level	5447	POR	ORPHA:95699
HP:0003154	Increased circulating ACTH level	4158	MC2R	OMIM:202200
HP:0003154	Increased circulating ACTH level	1583	CYP11A1	ORPHA:168558
HP:0003154	Increased circulating ACTH level	1583	CYP11A1	ORPHA:289548
HP:0003154	Increased circulating ACTH level	1616	DAXX	ORPHA:100075
HP:0003154	Increased circulating ACTH level	9049	AIP	OMIM:219090
HP:0003154	Increased circulating ACTH level	56246	MRAP	OMIM:607398
HP:0003154	Increased circulating ACTH level	23530	NNT	OMIM:614736
HP:0003154	Increased circulating ACTH level	1584	CYP11B1	ORPHA:90795
HP:0003158	Hyposthenuria	554	AVPR2	ORPHA:223
HP:0003158	Hyposthenuria	554	AVPR2	OMIM:300539
HP:0003158	Hyposthenuria	359	AQP2	ORPHA:223
HP:0003158	Hyposthenuria	6557	SLC12A1	OMIM:601678
HP:0003158	Hyposthenuria	9915	ARNT2	OMIM:615926
HP:0003158	Hyposthenuria	1184	CLCN5	OMIM:308990
HP:0003158	Hyposthenuria	3758	KCNJ1	OMIM:241200
HP:0003158	Hyposthenuria	4867	NPHP1	OMIM:256100
HP:0003159	Hyperoxaluria	10861	SLC26A1	OMIM:167030
HP:0003159	Hyperoxaluria	189	AGXT	OMIM:259900
HP:0003159	Hyperoxaluria	189	AGXT	ORPHA:93598
HP:0003159	Hyperoxaluria	9380	GRHPR	OMIM:260000
HP:0003159	Hyperoxaluria	9380	GRHPR	ORPHA:93599
HP:0003159	Hyperoxaluria	5189	PEX1	OMIM:601539
HP:0003159	Hyperoxaluria	112817	HOGA1	OMIM:613616
HP:0003159	Hyperoxaluria	112817	HOGA1	ORPHA:93600
HP:0003160	Abnormal isoelectric focusing of serum transferrin	283209	PGM2L1	OMIM:620191
HP:0003160	Abnormal isoelectric focusing of serum transferrin	10466	COG5	ORPHA:263487
HP:0003160	Abnormal isoelectric focusing of serum transferrin	57511	COG6	ORPHA:363523
HP:0003160	Abnormal isoelectric focusing of serum transferrin	7355	SLC35A2	OMIM:300896
HP:0003160	Abnormal isoelectric focusing of serum transferrin	23545	ATP6V0A2	ORPHA:357074
HP:0003160	Abnormal isoelectric focusing of serum transferrin	23545	ATP6V0A2	ORPHA:2834
HP:0003160	Abnormal isoelectric focusing of serum transferrin	23545	ATP6V0A2	OMIM:278250
HP:0003160	Abnormal isoelectric focusing of serum transferrin	23545	ATP6V0A2	OMIM:219200
HP:0003160	Abnormal isoelectric focusing of serum transferrin	523	ATP6V1A	ORPHA:357074
HP:0003160	Abnormal isoelectric focusing of serum transferrin	529	ATP6V1E1	ORPHA:357074
HP:0003160	Abnormal isoelectric focusing of serum transferrin	5236	PGM1	OMIM:614921
HP:0003160	Abnormal isoelectric focusing of serum transferrin	2683	B4GALT1	OMIM:607091
HP:0003160	Abnormal isoelectric focusing of serum transferrin	92344	GORAB	OMIM:231070
HP:0003160	Abnormal isoelectric focusing of serum transferrin	29929	ALG6	OMIM:603147
HP:0003160	Abnormal isoelectric focusing of serum transferrin	29929	ALG6	ORPHA:79320
HP:0003160	Abnormal isoelectric focusing of serum transferrin	1650	DDOST	ORPHA:300536
HP:0003160	Abnormal isoelectric focusing of serum transferrin	1650	DDOST	OMIM:614507
HP:0003160	Abnormal isoelectric focusing of serum transferrin	4351	MPI	OMIM:602579
HP:0003160	Abnormal isoelectric focusing of serum transferrin	8813	DPM1	OMIM:608799
HP:0003160	Abnormal isoelectric focusing of serum transferrin	6748	SSR4	OMIM:300934
HP:0003160	Abnormal isoelectric focusing of serum transferrin	85365	ALG2	OMIM:607906
HP:0003160	Abnormal isoelectric focusing of serum transferrin	85365	ALG2	ORPHA:79326
HP:0003160	Abnormal isoelectric focusing of serum transferrin	1798	DPAGT1	OMIM:608093
HP:0003160	Abnormal isoelectric focusing of serum transferrin	8818	DPM2	ORPHA:329178
HP:0003160	Abnormal isoelectric focusing of serum transferrin	22845	DOLK	ORPHA:91131
HP:0003160	Abnormal isoelectric focusing of serum transferrin	22845	DOLK	OMIM:610768
HP:0003160	Abnormal isoelectric focusing of serum transferrin	9526	MPDU1	ORPHA:79323
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79053	ALG8	ORPHA:79325
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79053	ALG8	OMIM:608104
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79087	ALG12	OMIM:607143
HP:0003160	Abnormal isoelectric focusing of serum transferrin	10195	ALG3	OMIM:601110
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79644	SRD5A3	ORPHA:324737
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79644	SRD5A3	OMIM:612379
HP:0003160	Abnormal isoelectric focusing of serum transferrin	84061	MAGT1	OMIM:301031
HP:0003160	Abnormal isoelectric focusing of serum transferrin	440138	ALG11	ORPHA:280071
HP:0003160	Abnormal isoelectric focusing of serum transferrin	440138	ALG11	OMIM:613661
HP:0003160	Abnormal isoelectric focusing of serum transferrin	79868	ALG13	OMIM:300884
HP:0003160	Abnormal isoelectric focusing of serum transferrin	91869	RFT1	OMIM:612015
HP:0003160	Abnormal isoelectric focusing of serum transferrin	54344	DPM3	OMIM:612937
HP:0003160	Abnormal isoelectric focusing of serum transferrin	56052	ALG1	OMIM:608540
HP:0003160	Abnormal isoelectric focusing of serum transferrin	5373	PMM2	OMIM:212065
HP:0003160	Abnormal isoelectric focusing of serum transferrin	10159	ATP6AP2	OMIM:301045
HP:0003160	Abnormal isoelectric focusing of serum transferrin	25839	COG4	ORPHA:263501
HP:0003160	Abnormal isoelectric focusing of serum transferrin	25839	COG4	OMIM:613489
HP:0003160	Abnormal isoelectric focusing of serum transferrin	91949	COG7	OMIM:608779
HP:0003160	Abnormal isoelectric focusing of serum transferrin	91949	COG7	ORPHA:79333
HP:0003160	Abnormal isoelectric focusing of serum transferrin	11253	MAN1B1	ORPHA:397941
HP:0003160	Abnormal isoelectric focusing of serum transferrin	84342	COG8	OMIM:611182
HP:0003160	Abnormal isoelectric focusing of serum transferrin	537	ATP6AP1	OMIM:300972
HP:0003160	Abnormal isoelectric focusing of serum transferrin	2542	SLC37A4	OMIM:619525
HP:0003160	Abnormal isoelectric focusing of serum transferrin	819	CAMLG	OMIM:620201
HP:0003160	Abnormal isoelectric focusing of serum transferrin	64116	SLC39A8	ORPHA:468699
HP:0003160	Abnormal isoelectric focusing of serum transferrin	4247	MGAT2	OMIM:212066
HP:0003160	Abnormal isoelectric focusing of serum transferrin	51608	GET4	OMIM:620200
HP:0003160	Abnormal isoelectric focusing of serum transferrin	9382	COG1	OMIM:611209
HP:0003160	Abnormal isoelectric focusing of serum transferrin	9382	COG1	ORPHA:263508
HP:0003161	4-Hydroxyphenylpyruvic aciduria	3242	HPD	OMIM:276710
HP:0003161	4-Hydroxyphenylpyruvic aciduria	3242	HPD	OMIM:140350
HP:0003161	4-Hydroxyphenylpyruvic aciduria	3242	HPD	ORPHA:2118
HP:0003161	4-Hydroxyphenylpyruvic aciduria	6898	TAT	OMIM:276600
HP:0003161	4-Hydroxyphenylpyruvic aciduria	7019	TFAM	OMIM:617156
HP:0003162	Fasting hypoglycemia	3767	KCNJ11	ORPHA:276580
HP:0003162	Fasting hypoglycemia	2639	GCDH	ORPHA:25
HP:0003162	Fasting hypoglycemia	3643	INSR	OMIM:262190
HP:0003162	Fasting hypoglycemia	3643	INSR	OMIM:246200
HP:0003162	Fasting hypoglycemia	3643	INSR	ORPHA:508
HP:0003162	Fasting hypoglycemia	3643	INSR	ORPHA:769
HP:0003162	Fasting hypoglycemia	6505	SLC1A1	OMIM:222730
HP:0003162	Fasting hypoglycemia	2998	GYS2	OMIM:240600
HP:0003162	Fasting hypoglycemia	5105	PCK1	OMIM:261680
HP:0003162	Fasting hypoglycemia	2538	G6PC1	OMIM:232200
HP:0003162	Fasting hypoglycemia	55699	IARS2	ORPHA:436174
HP:0003162	Fasting hypoglycemia	5257	PHKB	ORPHA:79240
HP:0003162	Fasting hypoglycemia	3481	IGF2	OMIM:180860
HP:0003162	Fasting hypoglycemia	2203	FBP1	ORPHA:348
HP:0003162	Fasting hypoglycemia	2887	GRB10	ORPHA:96182
HP:0003162	Fasting hypoglycemia	3172	HNF4A	ORPHA:263455
HP:0003162	Fasting hypoglycemia	9095	TBX19	OMIM:201400
HP:0003162	Fasting hypoglycemia	6514	SLC2A2	OMIM:227810
HP:0003162	Fasting hypoglycemia	6514	SLC2A2	ORPHA:2088
HP:0003162	Fasting hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0003162	Fasting hypoglycemia	5256	PHKA2	ORPHA:264580
HP:0003162	Fasting hypoglycemia	5261	PHKG2	ORPHA:264580
HP:0003162	Fasting hypoglycemia	5261	PHKG2	OMIM:613027
HP:0003162	Fasting hypoglycemia	79048	SECISBP2	ORPHA:171706
HP:0003162	Fasting hypoglycemia	208	AKT2	OMIM:240900
HP:0003162	Fasting hypoglycemia	6833	ABCC8	ORPHA:276575
HP:0003162	Fasting hypoglycemia	788	SLC25A20	ORPHA:159
HP:0003163	Elevated urinary delta-aminolevulinic acid	210	ALAD	OMIM:612740
HP:0003163	Elevated urinary delta-aminolevulinic acid	5498	PPOX	OMIM:176200
HP:0003163	Elevated urinary delta-aminolevulinic acid	5498	PPOX	ORPHA:79473
HP:0003163	Elevated urinary delta-aminolevulinic acid	3077	HFE	OMIM:176200
HP:0003163	Elevated urinary delta-aminolevulinic acid	1371	CPOX	ORPHA:79273
HP:0003163	Elevated urinary delta-aminolevulinic acid	1371	CPOX	OMIM:121300
HP:0003163	Elevated urinary delta-aminolevulinic acid	3145	HMBS	OMIM:176000
HP:0003163	Elevated urinary delta-aminolevulinic acid	3145	HMBS	ORPHA:79276
HP:0003163	Elevated urinary delta-aminolevulinic acid	2184	FAH	OMIM:276700
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	3730	ANOS1	OMIM:308700
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	3730	ANOS1	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	79625	NDNF	OMIM:618841
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	79625	NDNF	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	2260	FGFR1	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	10371	SEMA3A	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	81848	SPRY4	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	23767	FLRT3	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	128674	PROKR2	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	2253	FGF8	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	389549	FEZF1	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	1630	DCC	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	54756	IL17RD	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	6663	SOX10	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	285025	CCDC141	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	60675	PROK2	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	55636	CHD7	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	1848	DUSP6	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	6870	TACR3	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	55717	WDR11	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	9394	HS6ST1	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	8820	HESX1	ORPHA:478
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	8822	FGF17	ORPHA:478
HP:0003165	Elevated circulating parathyroid hormone level	1576	CYP3A4	OMIM:619073
HP:0003165	Elevated circulating parathyroid hormone level	5251	PHEX	OMIM:307800
HP:0003165	Elevated circulating parathyroid hormone level	79577	CDC73	ORPHA:99880
HP:0003165	Elevated circulating parathyroid hormone level	79577	CDC73	ORPHA:99879
HP:0003165	Elevated circulating parathyroid hormone level	79577	CDC73	ORPHA:143
HP:0003165	Elevated circulating parathyroid hormone level	9365	KL	OMIM:617994
HP:0003165	Elevated circulating parathyroid hormone level	1594	CYP27B1	ORPHA:289157
HP:0003165	Elevated circulating parathyroid hormone level	1594	CYP27B1	OMIM:264700
HP:0003165	Elevated circulating parathyroid hormone level	120227	CYP2R1	ORPHA:289157
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	OMIM:612462
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	ORPHA:94089
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	ORPHA:79443
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	ORPHA:79444
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	ORPHA:79445
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	OMIM:603233
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS	OMIM:103580
HP:0003165	Elevated circulating parathyroid hormone level	4221	MEN1	ORPHA:99879
HP:0003165	Elevated circulating parathyroid hormone level	9247	GCM2	ORPHA:99879
HP:0003165	Elevated circulating parathyroid hormone level	8675	STX16	ORPHA:94089
HP:0003165	Elevated circulating parathyroid hormone level	8675	STX16	OMIM:603233
HP:0003165	Elevated circulating parathyroid hormone level	5573	PRKAR1A	ORPHA:280651
HP:0003165	Elevated circulating parathyroid hormone level	5573	PRKAR1A	OMIM:101800
HP:0003165	Elevated circulating parathyroid hormone level	5144	PDE4D	ORPHA:280651
HP:0003165	Elevated circulating parathyroid hormone level	5144	PDE4D	ORPHA:439822
HP:0003165	Elevated circulating parathyroid hormone level	149775	GNAS-AS1	OMIM:603233
HP:0003165	Elevated circulating parathyroid hormone level	7421	VDR	OMIM:277440
HP:0003165	Elevated circulating parathyroid hormone level	6569	SLC34A1	OMIM:613388
HP:0003165	Elevated circulating parathyroid hormone level	10686	CLDN16	OMIM:248250
HP:0003165	Elevated circulating parathyroid hormone level	4763	NF1	ORPHA:97685
HP:0003165	Elevated circulating parathyroid hormone level	846	CASR	OMIM:239200
HP:0003165	Elevated circulating parathyroid hormone level	1027	CDKN1B	ORPHA:276152
HP:0003165	Elevated circulating parathyroid hormone level	50964	SOST	OMIM:122860
HP:0003166	Increased urinary taurine	10243	GPHN	OMIM:615501
HP:0003166	Increased urinary taurine	4337	MOCS1	OMIM:252150
HP:0003166	Increased urinary taurine	4338	MOCS2	OMIM:252160
HP:0003170	Abnormal acetabulum morphology	5745	PTH1R	ORPHA:79106
HP:0003170	Abnormal acetabulum morphology	79848	CSPP1	ORPHA:397715
HP:0003170	Abnormal acetabulum morphology	9786	KIAA0586	ORPHA:397715
HP:0003170	Abnormal acetabulum morphology	91147	TMEM67	ORPHA:140976
HP:0003170	Abnormal acetabulum morphology	1280	COL2A1	ORPHA:166011
HP:0003170	Abnormal acetabulum morphology	60561	RINT1	OMIM:618641
HP:0003170	Abnormal acetabulum morphology	59341	TRPV4	ORPHA:93314
HP:0003170	Abnormal acetabulum morphology	4148	MATN3	ORPHA:93311
HP:0003170	Abnormal acetabulum morphology	4088	SMAD3	ORPHA:284984
HP:0003170	Abnormal acetabulum morphology	4088	SMAD3	OMIM:613795
HP:0003170	Abnormal acetabulum morphology	5351	PLOD1	OMIM:225400
HP:0003170	Abnormal acetabulum morphology	2200	FBN1	OMIM:154700
HP:0003170	Abnormal acetabulum morphology	5176	SERPINF1	OMIM:613982
HP:0003170	Abnormal acetabulum morphology	10491	CRTAP	OMIM:610682
HP:0003170	Abnormal acetabulum morphology	7048	TGFBR2	OMIM:610168
HP:0003170	Abnormal acetabulum morphology	7042	TGFB2	OMIM:614816
HP:0003170	Abnormal acetabulum morphology	60681	FKBP10	OMIM:259450
HP:0003170	Abnormal acetabulum morphology	60681	FKBP10	OMIM:610968
HP:0003170	Abnormal acetabulum morphology	1277	COL1A1	OMIM:259420
HP:0003170	Abnormal acetabulum morphology	1278	COL1A2	OMIM:259420
HP:0003170	Abnormal acetabulum morphology	3339	HSPG2	ORPHA:800
HP:0003170	Abnormal acetabulum morphology	4313	MMP2	OMIM:259600
HP:0003170	Abnormal acetabulum morphology	153241	CEP120	OMIM:616300
HP:0003170	Abnormal acetabulum morphology	1108	CHD4	OMIM:617159
HP:0003170	Abnormal acetabulum morphology	54187	NANS	OMIM:610442
HP:0003170	Abnormal acetabulum morphology	64131	XYLT1	OMIM:615777
HP:0003170	Abnormal acetabulum morphology	124583	CANT1	OMIM:617719
HP:0003170	Abnormal acetabulum morphology	124583	CANT1	OMIM:251450
HP:0003170	Abnormal acetabulum morphology	2317	FLNB	OMIM:108721
HP:0003170	Abnormal acetabulum morphology	9896	FIG4	OMIM:216340
HP:0003170	Abnormal acetabulum morphology	2261	FGFR3	ORPHA:15
HP:0003170	Abnormal acetabulum morphology	57539	WDR35	OMIM:614091
HP:0003170	Abnormal acetabulum morphology	3636	INPPL1	OMIM:258480
HP:0003170	Abnormal acetabulum morphology	633	BGN	OMIM:300106
HP:0003170	Abnormal acetabulum morphology	26175	LYSET	OMIM:619345
HP:0003170	Abnormal acetabulum morphology	9321	TRIP11	OMIM:184260
HP:0003170	Abnormal acetabulum morphology	83452	RAB33B	OMIM:615222
HP:0003170	Abnormal acetabulum morphology	51098	IFT52	OMIM:617102
HP:0003170	Abnormal acetabulum morphology	55790	CSGALNACT1	OMIM:618870
HP:0003170	Abnormal acetabulum morphology	51025	PAM16	OMIM:613320
HP:0003170	Abnormal acetabulum morphology	23169	SLC35D1	OMIM:269250
HP:0003170	Abnormal acetabulum morphology	2879	GPX4	OMIM:250220
HP:0003170	Abnormal acetabulum morphology	64135	IFIH1	OMIM:182250
HP:0003170	Abnormal acetabulum morphology	55325	UFSP2	OMIM:142669
HP:0003170	Abnormal acetabulum morphology	9496	TBX4	ORPHA:261279
HP:0003170	Abnormal acetabulum morphology	100151683	RNU4ATAC	OMIM:226960
HP:0003170	Abnormal acetabulum morphology	51715	RAB23	OMIM:201000
HP:0003170	Abnormal acetabulum morphology	2623	GATA1	OMIM:190685
HP:0003170	Abnormal acetabulum morphology	50485	SMARCAL1	ORPHA:1830
HP:0003170	Abnormal acetabulum morphology	50485	SMARCAL1	OMIM:242900
HP:0003170	Abnormal acetabulum morphology	79158	GNPTAB	OMIM:252600
HP:0003170	Abnormal acetabulum morphology	3207	HOXA11	OMIM:605432
HP:0003170	Abnormal acetabulum morphology	4796	TONSL	ORPHA:93357
HP:0003170	Abnormal acetabulum morphology	9382	COG1	OMIM:611209
HP:0003170	Abnormal acetabulum morphology	54808	DYM	OMIM:607326
HP:0003170	Abnormal acetabulum morphology	54808	DYM	ORPHA:239
HP:0003170	Abnormal acetabulum morphology	3911	LAMA5	OMIM:620076
HP:0003170	Abnormal acetabulum morphology	411	ARSB	OMIM:253200
HP:0003170	Abnormal acetabulum morphology	1311	COMP	ORPHA:750
HP:0003170	Abnormal acetabulum morphology	2137	EXTL3	ORPHA:508533
HP:0003170	Abnormal acetabulum morphology	1146	CHRNG	OMIM:265000
HP:0003170	Abnormal acetabulum morphology	10717	AP4B1	ORPHA:280763
HP:0003170	Abnormal acetabulum morphology	10717	AP4B1	OMIM:614066
HP:0003170	Abnormal acetabulum morphology	9179	AP4M1	ORPHA:280763
HP:0003170	Abnormal acetabulum morphology	11154	AP4S1	ORPHA:280763
HP:0003170	Abnormal acetabulum morphology	23431	AP4E1	ORPHA:280763
HP:0003170	Abnormal acetabulum morphology	126792	B3GALT6	ORPHA:536467
HP:0003170	Abnormal acetabulum morphology	29928	TIMM22	OMIM:618851
HP:0003170	Abnormal acetabulum morphology	6210	RPS15A	OMIM:618313
HP:0003170	Abnormal acetabulum morphology	9775	EIF4A3	OMIM:268305
HP:0003170	Abnormal acetabulum morphology	25885	POLR1A	OMIM:616462
HP:0003170	Abnormal acetabulum morphology	1836	SLC26A2	ORPHA:93307
HP:0003170	Abnormal acetabulum morphology	2990	GUSB	OMIM:253220
HP:0003170	Abnormal acetabulum morphology	23443	SLC35A3	OMIM:615553
HP:0003170	Abnormal acetabulum morphology	65082	VPS33A	OMIM:617303
HP:0003170	Abnormal acetabulum morphology	84700	MYO18B	OMIM:616549
HP:0003170	Abnormal acetabulum morphology	55681	SCYL2	ORPHA:1143
HP:0003170	Abnormal acetabulum morphology	84570	COL25A1	ORPHA:1143
HP:0003170	Abnormal acetabulum morphology	57222	ERGIC1	ORPHA:1143
HP:0003170	Abnormal acetabulum morphology	4897	NRCAM	OMIM:619833
HP:0003170	Abnormal acetabulum morphology	2720	GLB1	ORPHA:79255
HP:0003170	Abnormal acetabulum morphology	8546	AP3B1	OMIM:608233
HP:0003170	Abnormal acetabulum morphology	8838	CCN6	ORPHA:1159
HP:0003170	Abnormal acetabulum morphology	1300	COL10A1	OMIM:156500
HP:0003170	Abnormal acetabulum morphology	153642	ARSK	OMIM:619698
HP:0003170	Abnormal acetabulum morphology	57728	WDR19	OMIM:614376
HP:0003170	Abnormal acetabulum morphology	79659	DYNC2H1	OMIM:613091
HP:0003170	Abnormal acetabulum morphology	55112	DYNC2I1	OMIM:615503
HP:0003170	Abnormal acetabulum morphology	2121	EVC	OMIM:225500
HP:0003170	Abnormal acetabulum morphology	132884	EVC2	OMIM:225500
HP:0003170	Abnormal acetabulum morphology	55835	CENPJ	OMIM:613676
HP:0003170	Abnormal acetabulum morphology	2263	FGFR2	ORPHA:313855
HP:0003170	Abnormal acetabulum morphology	2067	ERCC1	OMIM:610758
HP:0003170	Abnormal acetabulum morphology	3373	HYAL1	OMIM:601492
HP:0003170	Abnormal acetabulum morphology	255758	DYNLT2B	OMIM:617405
HP:0003172	Abnormal pubic bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0003172	Abnormal pubic bone morphology	538	ATP7A	ORPHA:198
HP:0003172	Abnormal pubic bone morphology	2316	FLNA	ORPHA:2484
HP:0003172	Abnormal pubic bone morphology	4089	SMAD4	ORPHA:2588
HP:0003172	Abnormal pubic bone morphology	4148	MATN3	OMIM:608728
HP:0003172	Abnormal pubic bone morphology	3636	INPPL1	OMIM:258480
HP:0003172	Abnormal pubic bone morphology	3636	INPPL1	ORPHA:2746
HP:0003172	Abnormal pubic bone morphology	6913	TBX15	OMIM:260660
HP:0003172	Abnormal pubic bone morphology	1280	COL2A1	OMIM:151210
HP:0003172	Abnormal pubic bone morphology	1280	COL2A1	OMIM:184250
HP:0003172	Abnormal pubic bone morphology	1280	COL2A1	ORPHA:93346
HP:0003172	Abnormal pubic bone morphology	2263	FGFR2	OMIM:614592
HP:0003172	Abnormal pubic bone morphology	27152	INTU	OMIM:617925
HP:0003172	Abnormal pubic bone morphology	9820	CUL7	ORPHA:2616
HP:0003172	Abnormal pubic bone morphology	23363	OBSL1	ORPHA:2616
HP:0003172	Abnormal pubic bone morphology	83987	CCDC8	ORPHA:2616
HP:0003172	Abnormal pubic bone morphology	1302	COL11A2	OMIM:614524
HP:0003172	Abnormal pubic bone morphology	26040	SETBP1	ORPHA:798
HP:0003172	Abnormal pubic bone morphology	3339	HSPG2	ORPHA:1865
HP:0003172	Abnormal pubic bone morphology	54808	DYM	OMIM:223800
HP:0003172	Abnormal pubic bone morphology	54808	DYM	ORPHA:239
HP:0003172	Abnormal pubic bone morphology	10236	HNRNPR	OMIM:620073
HP:0003172	Abnormal pubic bone morphology	649	BMP1	OMIM:614856
HP:0003172	Abnormal pubic bone morphology	860	RUNX2	OMIM:119600
HP:0003172	Abnormal pubic bone morphology	341640	FREM2	ORPHA:2052
HP:0003172	Abnormal pubic bone morphology	80144	FRAS1	ORPHA:2052
HP:0003172	Abnormal pubic bone morphology	80144	FRAS1	OMIM:219000
HP:0003172	Abnormal pubic bone morphology	23426	GRIP1	ORPHA:2052
HP:0003172	Abnormal pubic bone morphology	9896	FIG4	OMIM:216340
HP:0003172	Abnormal pubic bone morphology	145258	GSC	OMIM:602471
HP:0003172	Abnormal pubic bone morphology	10804	GJB6	ORPHA:477
HP:0003172	Abnormal pubic bone morphology	2706	GJB2	ORPHA:477
HP:0003172	Abnormal pubic bone morphology	23387	SIK3	OMIM:618162
HP:0003172	Abnormal pubic bone morphology	865	CBFB	OMIM:620099
HP:0003172	Abnormal pubic bone morphology	579	NKX3-2	OMIM:613330
HP:0003172	Abnormal pubic bone morphology	7476	WNT7A	OMIM:276820
HP:0003172	Abnormal pubic bone morphology	10060	ABCC9	OMIM:239850
HP:0003172	Abnormal pubic bone morphology	23522	KAT6B	OMIM:606170
HP:0003172	Abnormal pubic bone morphology	10815	CPLX1	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	54872	PIGG	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	7469	NELFA	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	1487	CTBP1	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	3954	LETM1	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	7468	NSD2	ORPHA:280
HP:0003172	Abnormal pubic bone morphology	1235	CCR6	ORPHA:220393
HP:0003172	Abnormal pubic bone morphology	1235	CCR6	ORPHA:220402
HP:0003172	Abnormal pubic bone morphology	1490	CCN2	ORPHA:220393
HP:0003172	Abnormal pubic bone morphology	1490	CCN2	ORPHA:220402
HP:0003172	Abnormal pubic bone morphology	3663	IRF5	ORPHA:220393
HP:0003172	Abnormal pubic bone morphology	3663	IRF5	ORPHA:220402
HP:0003172	Abnormal pubic bone morphology	857	CAV1	ORPHA:220393
HP:0003172	Abnormal pubic bone morphology	857	CAV1	ORPHA:220402
HP:0003172	Abnormal pubic bone morphology	3123	HLA-DRB1	ORPHA:220393
HP:0003172	Abnormal pubic bone morphology	3123	HLA-DRB1	ORPHA:220402
HP:0003172	Abnormal pubic bone morphology	79932	KIAA0319L	ORPHA:220402
HP:0003173	Hypoplastic pubic bone	4148	MATN3	OMIM:608728
HP:0003173	Hypoplastic pubic bone	3636	INPPL1	OMIM:258480
HP:0003173	Hypoplastic pubic bone	3636	INPPL1	ORPHA:2746
HP:0003173	Hypoplastic pubic bone	6913	TBX15	OMIM:260660
HP:0003173	Hypoplastic pubic bone	1280	COL2A1	OMIM:151210
HP:0003173	Hypoplastic pubic bone	1280	COL2A1	OMIM:184250
HP:0003173	Hypoplastic pubic bone	1280	COL2A1	ORPHA:93346
HP:0003173	Hypoplastic pubic bone	2263	FGFR2	OMIM:614592
HP:0003173	Hypoplastic pubic bone	27152	INTU	OMIM:617925
HP:0003173	Hypoplastic pubic bone	9820	CUL7	ORPHA:2616
HP:0003173	Hypoplastic pubic bone	23363	OBSL1	ORPHA:2616
HP:0003173	Hypoplastic pubic bone	83987	CCDC8	ORPHA:2616
HP:0003173	Hypoplastic pubic bone	1302	COL11A2	OMIM:614524
HP:0003173	Hypoplastic pubic bone	26040	SETBP1	ORPHA:798
HP:0003173	Hypoplastic pubic bone	3339	HSPG2	ORPHA:1865
HP:0003173	Hypoplastic pubic bone	10060	ABCC9	OMIM:239850
HP:0003173	Hypoplastic pubic bone	23522	KAT6B	OMIM:606170
HP:0003173	Hypoplastic pubic bone	10815	CPLX1	ORPHA:280
HP:0003173	Hypoplastic pubic bone	54872	PIGG	ORPHA:280
HP:0003173	Hypoplastic pubic bone	7469	NELFA	ORPHA:280
HP:0003173	Hypoplastic pubic bone	1487	CTBP1	ORPHA:280
HP:0003173	Hypoplastic pubic bone	3954	LETM1	ORPHA:280
HP:0003173	Hypoplastic pubic bone	7468	NSD2	ORPHA:280
HP:0003174	Abnormal ischium morphology	9321	TRIP11	OMIM:200600
HP:0003174	Abnormal ischium morphology	3636	INPPL1	OMIM:258480
HP:0003174	Abnormal ischium morphology	3636	INPPL1	ORPHA:2746
HP:0003174	Abnormal ischium morphology	6913	TBX15	OMIM:260660
HP:0003174	Abnormal ischium morphology	1280	COL2A1	OMIM:151210
HP:0003174	Abnormal ischium morphology	23522	KAT6B	ORPHA:85201
HP:0003174	Abnormal ischium morphology	23522	KAT6B	OMIM:606170
HP:0003174	Abnormal ischium morphology	112752	IFT43	OMIM:617866
HP:0003174	Abnormal ischium morphology	51025	PAM16	OMIM:613320
HP:0003174	Abnormal ischium morphology	9820	CUL7	ORPHA:2616
HP:0003174	Abnormal ischium morphology	23363	OBSL1	ORPHA:2616
HP:0003174	Abnormal ischium morphology	83987	CCDC8	ORPHA:2616
HP:0003174	Abnormal ischium morphology	83879	CDCA7	OMIM:616910
HP:0003174	Abnormal ischium morphology	1302	COL11A2	OMIM:614524
HP:0003174	Abnormal ischium morphology	2263	FGFR2	ORPHA:313855
HP:0003174	Abnormal ischium morphology	3339	HSPG2	ORPHA:1865
HP:0003174	Abnormal ischium morphology	10060	ABCC9	OMIM:239850
HP:0003174	Abnormal ischium morphology	2137	EXTL3	ORPHA:508533
HP:0003174	Abnormal ischium morphology	79639	TMEM53	OMIM:619727
HP:0003174	Abnormal ischium morphology	79796	ALG9	ORPHA:79328
HP:0003174	Abnormal ischium morphology	3977	LIFR	OMIM:601559
HP:0003174	Abnormal ischium morphology	1301	COL11A1	OMIM:228520
HP:0003174	Abnormal ischium morphology	1235	CCR6	ORPHA:220393
HP:0003174	Abnormal ischium morphology	1235	CCR6	ORPHA:220402
HP:0003174	Abnormal ischium morphology	1490	CCN2	ORPHA:220393
HP:0003174	Abnormal ischium morphology	1490	CCN2	ORPHA:220402
HP:0003174	Abnormal ischium morphology	3663	IRF5	ORPHA:220393
HP:0003174	Abnormal ischium morphology	3663	IRF5	ORPHA:220402
HP:0003174	Abnormal ischium morphology	857	CAV1	ORPHA:220393
HP:0003174	Abnormal ischium morphology	857	CAV1	ORPHA:220402
HP:0003174	Abnormal ischium morphology	3123	HLA-DRB1	ORPHA:220393
HP:0003174	Abnormal ischium morphology	3123	HLA-DRB1	ORPHA:220402
HP:0003174	Abnormal ischium morphology	79932	KIAA0319L	ORPHA:220402
HP:0003175	Hypoplastic ischia	9321	TRIP11	OMIM:200600
HP:0003175	Hypoplastic ischia	3636	INPPL1	OMIM:258480
HP:0003175	Hypoplastic ischia	3636	INPPL1	ORPHA:2746
HP:0003175	Hypoplastic ischia	6913	TBX15	OMIM:260660
HP:0003175	Hypoplastic ischia	1280	COL2A1	OMIM:151210
HP:0003175	Hypoplastic ischia	1301	COL11A1	OMIM:228520
HP:0003175	Hypoplastic ischia	23522	KAT6B	ORPHA:85201
HP:0003175	Hypoplastic ischia	23522	KAT6B	OMIM:606170
HP:0003175	Hypoplastic ischia	112752	IFT43	OMIM:617866
HP:0003175	Hypoplastic ischia	51025	PAM16	OMIM:613320
HP:0003175	Hypoplastic ischia	9820	CUL7	ORPHA:2616
HP:0003175	Hypoplastic ischia	23363	OBSL1	ORPHA:2616
HP:0003175	Hypoplastic ischia	83987	CCDC8	ORPHA:2616
HP:0003175	Hypoplastic ischia	83879	CDCA7	OMIM:616910
HP:0003175	Hypoplastic ischia	1302	COL11A2	OMIM:614524
HP:0003175	Hypoplastic ischia	2263	FGFR2	ORPHA:313855
HP:0003175	Hypoplastic ischia	3339	HSPG2	ORPHA:1865
HP:0003175	Hypoplastic ischia	10060	ABCC9	OMIM:239850
HP:0003177	Squared iliac bones	4148	MATN3	OMIM:608728
HP:0003177	Squared iliac bones	9361	LONP1	OMIM:600373
HP:0003177	Squared iliac bones	3636	INPPL1	OMIM:258480
HP:0003177	Squared iliac bones	3636	INPPL1	ORPHA:2746
HP:0003177	Squared iliac bones	5331	PLCB3	OMIM:618961
HP:0003177	Squared iliac bones	100151683	RNU4ATAC	OMIM:226960
HP:0003177	Squared iliac bones	153241	CEP120	OMIM:616300
HP:0003177	Squared iliac bones	165	AEBP1	OMIM:618000
HP:0003177	Squared iliac bones	51025	PAM16	OMIM:613320
HP:0003177	Squared iliac bones	25871	NEPRO	OMIM:618853
HP:0003177	Squared iliac bones	3339	HSPG2	OMIM:255800
HP:0003177	Squared iliac bones	9382	COG1	OMIM:611209
HP:0003177	Squared iliac bones	59341	TRPV4	ORPHA:93314
HP:0003177	Squared iliac bones	5745	PTH1R	OMIM:215045
HP:0003179	Protrusio acetabuli	4088	SMAD3	ORPHA:284984
HP:0003179	Protrusio acetabuli	4088	SMAD3	OMIM:613795
HP:0003179	Protrusio acetabuli	5351	PLOD1	OMIM:225400
HP:0003179	Protrusio acetabuli	2200	FBN1	OMIM:154700
HP:0003179	Protrusio acetabuli	5176	SERPINF1	OMIM:613982
HP:0003179	Protrusio acetabuli	10491	CRTAP	OMIM:610682
HP:0003179	Protrusio acetabuli	7048	TGFBR2	OMIM:610168
HP:0003179	Protrusio acetabuli	7042	TGFB2	OMIM:614816
HP:0003179	Protrusio acetabuli	60681	FKBP10	OMIM:259450
HP:0003179	Protrusio acetabuli	60681	FKBP10	OMIM:610968
HP:0003179	Protrusio acetabuli	1277	COL1A1	OMIM:259420
HP:0003179	Protrusio acetabuli	1278	COL1A2	OMIM:259420
HP:0003179	Protrusio acetabuli	3339	HSPG2	ORPHA:800
HP:0003179	Protrusio acetabuli	4313	MMP2	OMIM:259600
HP:0003182	Shallow acetabular fossae	64135	IFIH1	OMIM:182250
HP:0003182	Shallow acetabular fossae	55325	UFSP2	OMIM:142669
HP:0003182	Shallow acetabular fossae	9496	TBX4	ORPHA:261279
HP:0003182	Shallow acetabular fossae	100151683	RNU4ATAC	OMIM:226960
HP:0003182	Shallow acetabular fossae	51715	RAB23	OMIM:201000
HP:0003182	Shallow acetabular fossae	2623	GATA1	OMIM:190685
HP:0003182	Shallow acetabular fossae	50485	SMARCAL1	ORPHA:1830
HP:0003182	Shallow acetabular fossae	50485	SMARCAL1	OMIM:242900
HP:0003182	Shallow acetabular fossae	79158	GNPTAB	OMIM:252600
HP:0003182	Shallow acetabular fossae	3207	HOXA11	OMIM:605432
HP:0003182	Shallow acetabular fossae	4796	TONSL	ORPHA:93357
HP:0003182	Shallow acetabular fossae	9382	COG1	OMIM:611209
HP:0003183	Wide pubic symphysis	54808	DYM	OMIM:223800
HP:0003183	Wide pubic symphysis	54808	DYM	ORPHA:239
HP:0003183	Wide pubic symphysis	10236	HNRNPR	OMIM:620073
HP:0003183	Wide pubic symphysis	649	BMP1	OMIM:614856
HP:0003183	Wide pubic symphysis	860	RUNX2	OMIM:119600
HP:0003183	Wide pubic symphysis	341640	FREM2	ORPHA:2052
HP:0003183	Wide pubic symphysis	80144	FRAS1	ORPHA:2052
HP:0003183	Wide pubic symphysis	80144	FRAS1	OMIM:219000
HP:0003183	Wide pubic symphysis	23426	GRIP1	ORPHA:2052
HP:0003184	Decreased hip abduction	7169	TPM2	OMIM:108120
HP:0003184	Decreased hip abduction	9469	CHST3	OMIM:143095
HP:0003184	Decreased hip abduction	4784	NFIX	OMIM:602535
HP:0003184	Decreased hip abduction	7138	TNNT1	OMIM:605355
HP:0003184	Decreased hip abduction	63895	PIEZO2	OMIM:114300
HP:0003184	Decreased hip abduction	4148	MATN3	ORPHA:93311
HP:0003186	Inverted nipples	1798	DPAGT1	ORPHA:86309
HP:0003186	Inverted nipples	1798	DPAGT1	OMIM:608093
HP:0003186	Inverted nipples	91949	COG7	OMIM:608779
HP:0003186	Inverted nipples	8504	PEX3	OMIM:617370
HP:0003186	Inverted nipples	11253	MAN1B1	ORPHA:397941
HP:0003186	Inverted nipples	11253	MAN1B1	OMIM:614202
HP:0003186	Inverted nipples	253738	EBF3	OMIM:617330
HP:0003186	Inverted nipples	51604	PIGT	OMIM:615398
HP:0003186	Inverted nipples	51604	PIGT	ORPHA:369837
HP:0003186	Inverted nipples	117581	TWIST2	OMIM:209885
HP:0003186	Inverted nipples	7355	SLC35A2	ORPHA:356961
HP:0003186	Inverted nipples	775	CACNA1C	OMIM:620029
HP:0003186	Inverted nipples	6418	SET	OMIM:618106
HP:0003186	Inverted nipples	3703	STT3A	OMIM:619714
HP:0003186	Inverted nipples	79796	ALG9	OMIM:608776
HP:0003186	Inverted nipples	79796	ALG9	ORPHA:79328
HP:0003186	Inverted nipples	8936	WASF1	OMIM:618707
HP:0003186	Inverted nipples	3190	HNRNPK	ORPHA:453504
HP:0003186	Inverted nipples	3190	HNRNPK	OMIM:616580
HP:0003186	Inverted nipples	3190	HNRNPK	ORPHA:352665
HP:0003186	Inverted nipples	4784	NFIX	ORPHA:447980
HP:0003186	Inverted nipples	4247	MGAT2	ORPHA:79329
HP:0003186	Inverted nipples	440138	ALG11	ORPHA:280071
HP:0003186	Inverted nipples	440138	ALG11	OMIM:613661
HP:0003186	Inverted nipples	29998	BICRA	OMIM:619325
HP:0003186	Inverted nipples	6942	TCF20	OMIM:618430
HP:0003186	Inverted nipples	473	RERE	OMIM:616975
HP:0003186	Inverted nipples	79644	SRD5A3	OMIM:612379
HP:0003186	Inverted nipples	91869	RFT1	OMIM:612015
HP:0003186	Inverted nipples	91869	RFT1	ORPHA:244310
HP:0003186	Inverted nipples	388015	RTL1	ORPHA:96334
HP:0003186	Inverted nipples	8788	DLK1	ORPHA:96334
HP:0003186	Inverted nipples	55384	MEG3	ORPHA:96334
HP:0003186	Inverted nipples	2683	B4GALT1	ORPHA:79332
HP:0003186	Inverted nipples	51	ACOX1	OMIM:264470
HP:0003186	Inverted nipples	5373	PMM2	ORPHA:79318
HP:0003186	Inverted nipples	5373	PMM2	OMIM:212065
HP:0003186	Inverted nipples	85365	ALG2	OMIM:607906
HP:0003186	Inverted nipples	50619	DEF6	OMIM:619573
HP:0003186	Inverted nipples	7994	KAT6A	OMIM:616268
HP:0003186	Inverted nipples	91137	SLC25A46	OMIM:616505
HP:0003186	Inverted nipples	2146	EZH2	OMIM:277590
HP:0003186	Inverted nipples	9757	KMT2B	OMIM:619934
HP:0003186	Inverted nipples	51322	WAC	OMIM:616708
HP:0003186	Inverted nipples	51322	WAC	ORPHA:466950
HP:0003186	Inverted nipples	10195	ALG3	ORPHA:79321
HP:0003186	Inverted nipples	8813	DPM1	ORPHA:79322
HP:0003186	Inverted nipples	79087	ALG12	ORPHA:79324
HP:0003186	Inverted nipples	79087	ALG12	OMIM:607143
HP:0003186	Inverted nipples	79053	ALG8	ORPHA:79325
HP:0003186	Inverted nipples	6926	TBX3	OMIM:181450
HP:0003186	Inverted nipples	55553	SOX6	OMIM:618971
HP:0003186	Inverted nipples	497661	C18orf32	OMIM:619985
HP:0003186	Inverted nipples	1822	ATN1	OMIM:618494
HP:0003186	Inverted nipples	3930	LBR	OMIM:618019
HP:0003186	Inverted nipples	27152	INTU	OMIM:617926
HP:0003186	Inverted nipples	3720	JARID2	OMIM:620098
HP:0003187	Breast hypoplasia	2099	ESR1	ORPHA:785
HP:0003187	Breast hypoplasia	2260	FGFR1	ORPHA:432
HP:0003187	Breast hypoplasia	2260	FGFR1	ORPHA:478
HP:0003187	Breast hypoplasia	81848	SPRY4	ORPHA:432
HP:0003187	Breast hypoplasia	81848	SPRY4	ORPHA:478
HP:0003187	Breast hypoplasia	128674	PROKR2	ORPHA:432
HP:0003187	Breast hypoplasia	128674	PROKR2	ORPHA:478
HP:0003187	Breast hypoplasia	2253	FGF8	ORPHA:432
HP:0003187	Breast hypoplasia	2253	FGF8	ORPHA:478
HP:0003187	Breast hypoplasia	60675	PROK2	ORPHA:432
HP:0003187	Breast hypoplasia	60675	PROK2	ORPHA:478
HP:0003187	Breast hypoplasia	55636	CHD7	ORPHA:432
HP:0003187	Breast hypoplasia	55636	CHD7	ORPHA:478
HP:0003187	Breast hypoplasia	6870	TACR3	ORPHA:432
HP:0003187	Breast hypoplasia	6870	TACR3	ORPHA:478
HP:0003187	Breast hypoplasia	1848	DUSP6	ORPHA:432
HP:0003187	Breast hypoplasia	1848	DUSP6	ORPHA:478
HP:0003187	Breast hypoplasia	26012	NSMF	ORPHA:432
HP:0003187	Breast hypoplasia	55717	WDR11	ORPHA:432
HP:0003187	Breast hypoplasia	55717	WDR11	ORPHA:478
HP:0003187	Breast hypoplasia	9394	HS6ST1	ORPHA:432
HP:0003187	Breast hypoplasia	9394	HS6ST1	ORPHA:478
HP:0003187	Breast hypoplasia	2796	GNRH1	ORPHA:432
HP:0003187	Breast hypoplasia	2798	GNRHR	ORPHA:432
HP:0003187	Breast hypoplasia	84634	KISS1R	ORPHA:432
HP:0003187	Breast hypoplasia	6866	TAC3	ORPHA:432
HP:0003187	Breast hypoplasia	8822	FGF17	ORPHA:432
HP:0003187	Breast hypoplasia	8822	FGF17	ORPHA:478
HP:0003187	Breast hypoplasia	3814	KISS1	ORPHA:432
HP:0003187	Breast hypoplasia	7528	YY1	ORPHA:506358
HP:0003187	Breast hypoplasia	1947	EFNB1	OMIM:304110
HP:0003187	Breast hypoplasia	6926	TBX3	OMIM:181450
HP:0003187	Breast hypoplasia	4094	MAF	ORPHA:1272
HP:0003187	Breast hypoplasia	4998	ORC1	OMIM:224690
HP:0003187	Breast hypoplasia	84168	ANTXR1	OMIM:230740
HP:0003187	Breast hypoplasia	5000	ORC4	OMIM:613800
HP:0003187	Breast hypoplasia	8517	IKBKG	OMIM:308300
HP:0003187	Breast hypoplasia	8626	TP63	ORPHA:978
HP:0003187	Breast hypoplasia	8626	TP63	OMIM:103285
HP:0003187	Breast hypoplasia	25886	POC1A	OMIM:614813
HP:0003187	Breast hypoplasia	81620	CDT1	OMIM:613804
HP:0003187	Breast hypoplasia	23594	ORC6	OMIM:613803
HP:0003187	Breast hypoplasia	10371	SEMA3A	ORPHA:478
HP:0003187	Breast hypoplasia	23767	FLRT3	ORPHA:478
HP:0003187	Breast hypoplasia	79625	NDNF	ORPHA:478
HP:0003187	Breast hypoplasia	389549	FEZF1	ORPHA:478
HP:0003187	Breast hypoplasia	1630	DCC	ORPHA:478
HP:0003187	Breast hypoplasia	3730	ANOS1	ORPHA:478
HP:0003187	Breast hypoplasia	54756	IL17RD	ORPHA:478
HP:0003187	Breast hypoplasia	6663	SOX10	ORPHA:478
HP:0003187	Breast hypoplasia	285025	CCDC141	ORPHA:478
HP:0003187	Breast hypoplasia	8820	HESX1	ORPHA:478
HP:0003187	Breast hypoplasia	117581	TWIST2	ORPHA:920
HP:0003187	Breast hypoplasia	8239	USP9X	OMIM:300968
HP:0003187	Breast hypoplasia	2488	FSHB	ORPHA:52901
HP:0003187	Breast hypoplasia	51199	NIN	ORPHA:319675
HP:0003193	Allergic rhinitis	10999	SLC27A4	OMIM:608649
HP:0003193	Allergic rhinitis	1369	CPN1	OMIM:212070
HP:0003193	Allergic rhinitis	23387	SIK3	OMIM:618162
HP:0003193	Allergic rhinitis	7941	PLA2G7	OMIM:147050
HP:0003193	Allergic rhinitis	50615	IL21R	OMIM:147050
HP:0003193	Allergic rhinitis	3566	IL4R	OMIM:147050
HP:0003193	Allergic rhinitis	2206	MS4A2	OMIM:147050
HP:0003193	Allergic rhinitis	146206	CARMIL2	OMIM:618131
HP:0003193	Allergic rhinitis	11005	SPINK5	OMIM:256500
HP:0003193	Allergic rhinitis	1041	CDSN	ORPHA:90368
HP:0003193	Allergic rhinitis	121391	KRT74	ORPHA:90368
HP:0003193	Allergic rhinitis	5238	PGM3	ORPHA:443811
HP:0003193	Allergic rhinitis	5238	PGM3	OMIM:615816
HP:0003193	Allergic rhinitis	5336	PLCG2	OMIM:614468
HP:0003193	Allergic rhinitis	84701	COX4I2	OMIM:612714
HP:0003193	Allergic rhinitis	3514	IGKC	ORPHA:183675
HP:0003193	Allergic rhinitis	3501	IGHG2	ORPHA:183675
HP:0003194	Short nasal bridge	2261	FGFR3	ORPHA:15
HP:0003194	Short nasal bridge	7025	NR2F1	ORPHA:401777
HP:0003194	Short nasal bridge	55624	POMGNT1	OMIM:253280
HP:0003194	Short nasal bridge	4854	NOTCH3	OMIM:130720
HP:0003194	Short nasal bridge	55503	TRPV6	OMIM:618188
HP:0410132	Increased level of L-pyroglutamic acid in urine	26873	OPLAH	OMIM:260005
HP:0410132	Increased level of L-pyroglutamic acid in urine	2937	GSS	OMIM:266130
HP:0410132	Increased level of L-pyroglutamic acid in urine	2937	GSS	OMIM:231900
HP:0410134	Physical urticaria	11198	SUPT16H	OMIM:619480
HP:0410134	Physical urticaria	10999	SLC27A4	OMIM:608649
HP:0410134	Physical urticaria	3594	IL12RB1	ORPHA:186
HP:0410134	Physical urticaria	23534	TNPO3	ORPHA:186
HP:0410134	Physical urticaria	3592	IL12A	ORPHA:186
HP:0410134	Physical urticaria	6689	SPIB	ORPHA:186
HP:0410134	Physical urticaria	5450	POU2AF1	ORPHA:186
HP:0410134	Physical urticaria	9966	TNFSF15	ORPHA:186
HP:0410134	Physical urticaria	79258	MMEL1	ORPHA:186
HP:0410134	Physical urticaria	3663	IRF5	ORPHA:186
HP:0410134	Physical urticaria	710	SERPING1	ORPHA:100050
HP:0410134	Physical urticaria	3815	KIT	ORPHA:79455
HP:0410134	Physical urticaria	30817	ADGRE2	OMIM:125630
HP:0410134	Physical urticaria	5336	PLCG2	OMIM:614468
HP:0410134	Physical urticaria	146206	CARMIL2	OMIM:618131
HP:0410135	Cold urticaria	5336	PLCG2	OMIM:614468
HP:0410135	Cold urticaria	146206	CARMIL2	OMIM:618131
HP:0410144	Abnormal circulating biotinidase concentration	686	BTD	OMIM:253260
HP:0410144	Abnormal circulating biotinidase concentration	686	BTD	ORPHA:79241
HP:0410145	Decreased circulating biotinidase concentration	686	BTD	OMIM:253260
HP:0410145	Decreased circulating biotinidase concentration	686	BTD	ORPHA:79241
HP:0410151	Eosinophilic infiltration of the esophagus	4088	SMAD3	OMIM:613795
HP:0410151	Eosinophilic infiltration of the esophagus	7046	TGFBR1	OMIM:609192
HP:0410151	Eosinophilic infiltration of the esophagus	81704	DOCK8	OMIM:243700
HP:0410151	Eosinophilic infiltration of the esophagus	7048	TGFBR2	OMIM:610168
HP:0410151	Eosinophilic infiltration of the esophagus	1828	DSG1	OMIM:615508
HP:0410151	Eosinophilic infiltration of the esophagus	7042	TGFB2	OMIM:614816
HP:0410151	Eosinophilic infiltration of the esophagus	7040	TGFB1	OMIM:618213
HP:0410151	Eosinophilic infiltration of the esophagus	7043	TGFB3	OMIM:615582
HP:0410153	Increased level of methylsuccinic acid in urine	35	ACADS	ORPHA:26792
HP:0410156	Increased level of N-acetylneuraminic acid in urine	10020	GNE	OMIM:269921
HP:0003239	Phosphoethanolaminuria	249	ALPL	OMIM:241500
HP:0003239	Phosphoethanolaminuria	249	ALPL	OMIM:241510
HP:0010900	Abnormal circulating threonine concentration	3000	GUCY2D	OMIM:204000
HP:0010900	Abnormal circulating threonine concentration	10165	SLC25A13	OMIM:605814
HP:0010900	Abnormal circulating threonine concentration	10165	SLC25A13	ORPHA:247598
HP:0010900	Abnormal circulating threonine concentration	55163	PNPO	ORPHA:79096
HP:0010901	Abnormal circulating methionine concentration	191	AHCY	OMIM:613752
HP:0010901	Abnormal circulating methionine concentration	191	AHCY	ORPHA:88618
HP:0010901	Abnormal circulating methionine concentration	10165	SLC25A13	OMIM:605814
HP:0010901	Abnormal circulating methionine concentration	10165	SLC25A13	ORPHA:247598
HP:0010901	Abnormal circulating methionine concentration	132	ADK	OMIM:614300
HP:0010901	Abnormal circulating methionine concentration	875	CBS	OMIM:236200
HP:0010901	Abnormal circulating methionine concentration	4143	MAT1A	OMIM:250850
HP:0010901	Abnormal circulating methionine concentration	2184	FAH	OMIM:276700
HP:0010901	Abnormal circulating methionine concentration	27232	GNMT	OMIM:606664
HP:0010901	Abnormal circulating methionine concentration	9652	SKIC3	OMIM:222470
HP:0010901	Abnormal circulating methionine concentration	7019	TFAM	OMIM:617156
HP:0010901	Abnormal circulating methionine concentration	4552	MTRR	OMIM:236270
HP:0010901	Abnormal circulating methionine concentration	4552	MTRR	ORPHA:2169
HP:0010901	Abnormal circulating methionine concentration	25974	MMACHC	ORPHA:79282
HP:0010901	Abnormal circulating methionine concentration	25974	MMACHC	OMIM:277400
HP:0010901	Abnormal circulating methionine concentration	55788	LMBRD1	ORPHA:79284
HP:0010901	Abnormal circulating methionine concentration	4524	MTHFR	ORPHA:395
HP:0010901	Abnormal circulating methionine concentration	5826	ABCD4	OMIM:614857
HP:0010901	Abnormal circulating methionine concentration	4548	MTR	OMIM:250940
HP:0010901	Abnormal circulating methionine concentration	27249	MMADHC	OMIM:277410
HP:0010901	Abnormal circulating methionine concentration	5052	PRDX1	OMIM:277400
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5009	OTC	OMIM:311250
HP:0010902	Abnormal circulating glutamine family amino acid concentration	2744	GLS	OMIM:618412
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0010902	Abnormal circulating glutamine family amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	435	ASL	ORPHA:23
HP:0010902	Abnormal circulating glutamine family amino acid concentration	435	ASL	OMIM:207900
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1373	CPS1	ORPHA:147
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1373	CPS1	OMIM:237300
HP:0010902	Abnormal circulating glutamine family amino acid concentration	763	CA5A	OMIM:615751
HP:0010902	Abnormal circulating glutamine family amino acid concentration	55163	PNPO	ORPHA:79096
HP:0010902	Abnormal circulating glutamine family amino acid concentration	445	ASS1	OMIM:215700
HP:0010902	Abnormal circulating glutamine family amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0010902	Abnormal circulating glutamine family amino acid concentration	9377	COX5A	OMIM:619064
HP:0010902	Abnormal circulating glutamine family amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	OMIM:600850
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	OMIM:239500
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	ORPHA:419
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0010902	Abnormal circulating glutamine family amino acid concentration	51241	COX16	OMIM:619355
HP:0010902	Abnormal circulating glutamine family amino acid concentration	51601	LIPT1	OMIM:616299
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1352	COX10	OMIM:619046
HP:0010902	Abnormal circulating glutamine family amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0010902	Abnormal circulating glutamine family amino acid concentration	8659	ALDH4A1	OMIM:239510
HP:0010902	Abnormal circulating glutamine family amino acid concentration	54704	PDP1	ORPHA:79246
HP:0010902	Abnormal circulating glutamine family amino acid concentration	80222	TARS2	OMIM:615918
HP:0010902	Abnormal circulating glutamine family amino acid concentration	6888	TALDO1	ORPHA:101028
HP:0010902	Abnormal circulating glutamine family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010902	Abnormal circulating glutamine family amino acid concentration	2752	GLUL	OMIM:610015
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4190	MDH1	OMIM:618959
HP:0010902	Abnormal circulating glutamine family amino acid concentration	162417	NAGS	OMIM:237310
HP:0010902	Abnormal circulating glutamine family amino acid concentration	383	ARG1	OMIM:207800
HP:0010903	Abnormal circulating glutamine concentration	435	ASL	ORPHA:23
HP:0010903	Abnormal circulating glutamine concentration	435	ASL	OMIM:207900
HP:0010903	Abnormal circulating glutamine concentration	763	CA5A	OMIM:615751
HP:0010903	Abnormal circulating glutamine concentration	5009	OTC	OMIM:311250
HP:0010903	Abnormal circulating glutamine concentration	162417	NAGS	ORPHA:927
HP:0010903	Abnormal circulating glutamine concentration	9056	SLC7A7	ORPHA:470
HP:0010903	Abnormal circulating glutamine concentration	445	ASS1	OMIM:215700
HP:0010903	Abnormal circulating glutamine concentration	51241	COX16	OMIM:619355
HP:0010903	Abnormal circulating glutamine concentration	2744	GLS	OMIM:618412
HP:0010903	Abnormal circulating glutamine concentration	51601	LIPT1	OMIM:616299
HP:0010903	Abnormal circulating glutamine concentration	6888	TALDO1	ORPHA:101028
HP:0010903	Abnormal circulating glutamine concentration	10165	SLC25A13	ORPHA:247598
HP:0010903	Abnormal circulating glutamine concentration	2752	GLUL	OMIM:610015
HP:0010904	Abnormal circulating histidine concentration	55163	PNPO	ORPHA:79096
HP:0010904	Abnormal circulating histidine concentration	10841	FTCD	ORPHA:51208
HP:0010904	Abnormal circulating histidine concentration	131669	UROC1	ORPHA:210128
HP:0010904	Abnormal circulating histidine concentration	3034	HAL	OMIM:235800
HP:0010904	Abnormal circulating histidine concentration	3034	HAL	ORPHA:2157
HP:0010906	Hyperhistidinemia	3034	HAL	OMIM:235800
HP:0010906	Hyperhistidinemia	3034	HAL	ORPHA:2157
HP:0010907	Abnormal circulating proline concentration	4982	TNFRSF11B	OMIM:239000
HP:0010907	Abnormal circulating proline concentration	348932	SLC6A18	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	153201	SLC36A2	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	54716	SLC6A20	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	340024	SLC6A19	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	9377	COX5A	OMIM:619064
HP:0010907	Abnormal circulating proline concentration	9056	SLC7A7	ORPHA:470
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	OMIM:600850
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	OMIM:239500
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	ORPHA:419
HP:0010907	Abnormal circulating proline concentration	4718	NDUFC2	OMIM:619170
HP:0010907	Abnormal circulating proline concentration	4716	NDUFB10	OMIM:619003
HP:0010907	Abnormal circulating proline concentration	51241	COX16	OMIM:619355
HP:0010907	Abnormal circulating proline concentration	51601	LIPT1	OMIM:616299
HP:0010907	Abnormal circulating proline concentration	1352	COX10	OMIM:619046
HP:0010907	Abnormal circulating proline concentration	763	CA5A	OMIM:615751
HP:0010907	Abnormal circulating proline concentration	498	ATP5F1A	OMIM:620358
HP:0010907	Abnormal circulating proline concentration	8659	ALDH4A1	ORPHA:79101
HP:0010907	Abnormal circulating proline concentration	8659	ALDH4A1	OMIM:239510
HP:0010907	Abnormal circulating proline concentration	54704	PDP1	ORPHA:79246
HP:0010907	Abnormal circulating proline concentration	80222	TARS2	OMIM:615918
HP:0010907	Abnormal circulating proline concentration	5832	ALDH18A1	OMIM:219150
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	ORPHA:2203
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	OMIM:238700
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	ORPHA:3124
HP:0010908	Abnormal circulating lysine concentration	133686	NADK2	ORPHA:431361
HP:0010908	Abnormal circulating lysine concentration	133686	NADK2	OMIM:616034
HP:0010908	Abnormal circulating lysine concentration	10165	SLC25A13	OMIM:605814
HP:0010908	Abnormal circulating lysine concentration	10165	SLC25A13	ORPHA:247598
HP:0010908	Abnormal circulating lysine concentration	10367	MICU1	OMIM:615673
HP:0010908	Abnormal circulating lysine concentration	9056	SLC7A7	OMIM:222700
HP:0010909	Abnormal circulating arginine concentration	435	ASL	ORPHA:23
HP:0010909	Abnormal circulating arginine concentration	435	ASL	OMIM:207900
HP:0010909	Abnormal circulating arginine concentration	1373	CPS1	ORPHA:147
HP:0010909	Abnormal circulating arginine concentration	1373	CPS1	OMIM:237300
HP:0010909	Abnormal circulating arginine concentration	763	CA5A	OMIM:615751
HP:0010909	Abnormal circulating arginine concentration	55163	PNPO	ORPHA:79096
HP:0010909	Abnormal circulating arginine concentration	445	ASS1	OMIM:215700
HP:0010909	Abnormal circulating arginine concentration	498	ATP5F1A	OMIM:620358
HP:0010909	Abnormal circulating arginine concentration	5832	ALDH18A1	OMIM:219150
HP:0010909	Abnormal circulating arginine concentration	10165	SLC25A13	OMIM:605814
HP:0010909	Abnormal circulating arginine concentration	10165	SLC25A13	OMIM:603471
HP:0010909	Abnormal circulating arginine concentration	383	ARG1	OMIM:207800
HP:0010910	Hypervalinemia	587	BCAT2	OMIM:618850
HP:0010910	Hypervalinemia	10367	MICU1	OMIM:615673
HP:0010910	Hypervalinemia	506	ATP5F1B	OMIM:620085
HP:0010911	Hyperleucinemia	152926	PPM1K	OMIM:615135
HP:0010911	Hyperleucinemia	587	BCAT2	OMIM:618850
HP:0010911	Hyperleucinemia	64087	MCCC2	OMIM:210210
HP:0010911	Hyperleucinemia	506	ATP5F1B	OMIM:620085
HP:0010912	Abnormal circulating isoleucine concentration	152926	PPM1K	OMIM:615135
HP:0010912	Abnormal circulating isoleucine concentration	1738	DLD	ORPHA:2394
HP:0010912	Abnormal circulating isoleucine concentration	587	BCAT2	OMIM:618850
HP:0010912	Abnormal circulating isoleucine concentration	506	ATP5F1B	OMIM:620085
HP:0010913	Hyperisoleucinemia	152926	PPM1K	OMIM:615135
HP:0010913	Hyperisoleucinemia	1738	DLD	ORPHA:2394
HP:0010913	Hyperisoleucinemia	587	BCAT2	OMIM:618850
HP:0010913	Hyperisoleucinemia	506	ATP5F1B	OMIM:620085
HP:0010914	Abnormal circulating valine concentration	587	BCAT2	OMIM:618850
HP:0010914	Abnormal circulating valine concentration	10367	MICU1	OMIM:615673
HP:0010914	Abnormal circulating valine concentration	506	ATP5F1B	OMIM:620085
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5091	PC	OMIM:266150
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51241	COX16	OMIM:619355
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	55768	NGLY1	OMIM:615273
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	26235	FBXL4	OMIM:615471
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54914	FOCAD	OMIM:619991
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	498	ATP5F1A	OMIM:616045
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	11222	MRPL3	OMIM:614582
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	763	CA5A	OMIM:615751
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	10059	DNM1L	OMIM:614388
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	25821	MTO1	OMIM:614702
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	90624	LYRM7	OMIM:615838
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	57176	VARS2	OMIM:615917
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	2203	FBP1	ORPHA:348
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	80222	TARS2	OMIM:615918
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4535	MT-ND1	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4536	MT-ND2	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4537	MT-ND3	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4538	MT-ND4	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4567	MT-TL1	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4578	MT-TW	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4577	MT-TV	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4540	MT-ND5	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4541	MT-ND6	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4566	MT-TK	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	6341	SCO1	OMIM:619048
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	7385	UQCRC2	OMIM:615160
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5160	PDHA1	OMIM:312170
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1352	COX10	OMIM:619046
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	387787	LIPT2	OMIM:617668
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1841	DTYMK	OMIM:619847
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4285	MIPEP	OMIM:617228
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54931	TRMT10C	OMIM:616974
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5428	POLG	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1890	TYMP	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	3980	LIG3	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	50484	RRM2B	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1340	COX6B1	OMIM:619051
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	90161	HS6ST2	OMIM:301025
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1351	COX8A	OMIM:619059
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51116	MRPS2	OMIM:617950
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	125988	MICOS13	OMIM:618329
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4724	NDUFS4	OMIM:252010
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	162417	NAGS	ORPHA:927
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51079	NDUFA13	OMIM:618249
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	291	SLC25A4	OMIM:615418
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54704	PDP1	ORPHA:79246
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9377	COX5A	OMIM:619064
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	55863	TMEM126B	OMIM:618250
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54968	TMEM70	OMIM:614052
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	3735	KARS1	OMIM:619147
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	63931	MRPS14	OMIM:618378
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9054	NFS1	OMIM:619386
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	57017	COQ9	OMIM:614654
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	84947	SERAC1	OMIM:614739
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	8050	PDHX	ORPHA:255182
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0410170	Hippocampal atrophy	23261	CAMTA1	OMIM:614756
HP:0410170	Hippocampal atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0410170	Hippocampal atrophy	2917	GRM7	OMIM:618922
HP:0410170	Hippocampal atrophy	57094	CPA6	OMIM:614418
HP:0410170	Hippocampal atrophy	29998	BICRA	OMIM:619325
HP:0410170	Hippocampal atrophy	4750	NEK1	OMIM:617892
HP:0410170	Hippocampal atrophy	10347	ABCA7	OMIM:608907
HP:0410173	Increased circulating troponin I concentration	6840	SVIL	OMIM:619040
HP:0410173	Increased circulating troponin I concentration	1829	DSG2	OMIM:610193
HP:0410174	Increased circulating troponin T concentration	6331	SCN5A	ORPHA:1344
HP:0410174	Increased circulating troponin T concentration	4878	NPPA	ORPHA:1344
HP:0410174	Increased circulating troponin T concentration	7276	TTR	ORPHA:85451
HP:0410175	Hyperketonemia	1340	COX6B1	OMIM:619051
HP:0410175	Hyperketonemia	2542	SLC37A4	OMIM:232240
HP:0410175	Hyperketonemia	2639	GCDH	OMIM:231670
HP:0410175	Hyperketonemia	5256	PHKA2	ORPHA:264580
HP:0410175	Hyperketonemia	5261	PHKG2	ORPHA:264580
HP:0410176	Abnormal circulating glucose-6-phosphate dehydrogenase concentration	8573	CASK	OMIM:300908
HP:0410176	Abnormal circulating glucose-6-phosphate dehydrogenase concentration	2539	G6PD	OMIM:300908
HP:0410177	Abnormal glucose-6-phosphate dehydrogenase level in blood	8573	CASK	OMIM:300908
HP:0410177	Abnormal glucose-6-phosphate dehydrogenase level in blood	2539	G6PD	OMIM:300908
HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	8573	CASK	OMIM:300908
HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	2539	G6PD	OMIM:300908
HP:0010919	Abnormal circulating homocysteine concentration	4552	MTRR	OMIM:236270
HP:0010919	Abnormal circulating homocysteine concentration	4552	MTRR	ORPHA:2169
HP:0010919	Abnormal circulating homocysteine concentration	4524	MTHFR	OMIM:236250
HP:0010919	Abnormal circulating homocysteine concentration	4524	MTHFR	ORPHA:395
HP:0010919	Abnormal circulating homocysteine concentration	6573	SLC19A1	OMIM:601775
HP:0010919	Abnormal circulating homocysteine concentration	4522	MTHFD1	OMIM:617780
HP:0010919	Abnormal circulating homocysteine concentration	55788	LMBRD1	OMIM:277380
HP:0010919	Abnormal circulating homocysteine concentration	55788	LMBRD1	ORPHA:79284
HP:0010919	Abnormal circulating homocysteine concentration	25974	MMACHC	ORPHA:79282
HP:0010919	Abnormal circulating homocysteine concentration	25974	MMACHC	OMIM:277400
HP:0010919	Abnormal circulating homocysteine concentration	3054	HCFC1	OMIM:309541
HP:0010919	Abnormal circulating homocysteine concentration	51293	CD320	OMIM:613646
HP:0010919	Abnormal circulating homocysteine concentration	875	CBS	OMIM:236200
HP:0010919	Abnormal circulating homocysteine concentration	5826	ABCD4	OMIM:614857
HP:0010919	Abnormal circulating homocysteine concentration	4548	MTR	OMIM:250940
HP:0010919	Abnormal circulating homocysteine concentration	27249	MMADHC	OMIM:277410
HP:0010919	Abnormal circulating homocysteine concentration	5052	PRDX1	OMIM:277400
HP:0010919	Abnormal circulating homocysteine concentration	84693	MCEE	OMIM:251120
HP:0010919	Abnormal circulating homocysteine concentration	191	AHCY	ORPHA:88618
HP:0010919	Abnormal circulating homocysteine concentration	4780	NFE2L2	OMIM:617744
HP:0010918	Abnormal circulating cysteine concentration	10157	AASS	ORPHA:3124
HP:0010918	Abnormal circulating cysteine concentration	4780	NFE2L2	OMIM:617744
HP:0010918	Abnormal circulating cysteine concentration	10243	GPHN	OMIM:615501
HP:0010917	Abnormal circulating tyrosine concentration	10165	SLC25A13	OMIM:605814
HP:0010917	Abnormal circulating tyrosine concentration	10165	SLC25A13	ORPHA:247598
HP:0010917	Abnormal circulating tyrosine concentration	3242	HPD	OMIM:276710
HP:0010917	Abnormal circulating tyrosine concentration	3242	HPD	OMIM:140350
HP:0010917	Abnormal circulating tyrosine concentration	6898	TAT	OMIM:276600
HP:0010917	Abnormal circulating tyrosine concentration	2184	FAH	OMIM:276700
HP:0010917	Abnormal circulating tyrosine concentration	617	BCS1L	OMIM:124000
HP:0010917	Abnormal circulating tyrosine concentration	7019	TFAM	OMIM:617156
HP:0010917	Abnormal circulating tyrosine concentration	55163	PNPO	ORPHA:79096
HP:0010916	Abnormal circulating alanine concentration	9056	SLC7A7	ORPHA:470
HP:0010916	Abnormal circulating alanine concentration	5091	PC	OMIM:266150
HP:0010916	Abnormal circulating alanine concentration	51241	COX16	OMIM:619355
HP:0010916	Abnormal circulating alanine concentration	55768	NGLY1	OMIM:615273
HP:0010916	Abnormal circulating alanine concentration	26235	FBXL4	OMIM:615471
HP:0010916	Abnormal circulating alanine concentration	54914	FOCAD	OMIM:619991
HP:0010916	Abnormal circulating alanine concentration	498	ATP5F1A	OMIM:616045
HP:0010916	Abnormal circulating alanine concentration	498	ATP5F1A	OMIM:620358
HP:0010916	Abnormal circulating alanine concentration	11222	MRPL3	OMIM:614582
HP:0010916	Abnormal circulating alanine concentration	763	CA5A	OMIM:615751
HP:0010916	Abnormal circulating alanine concentration	10059	DNM1L	OMIM:614388
HP:0010916	Abnormal circulating alanine concentration	25821	MTO1	OMIM:614702
HP:0010916	Abnormal circulating alanine concentration	90624	LYRM7	OMIM:615838
HP:0010916	Abnormal circulating alanine concentration	8659	ALDH4A1	ORPHA:79101
HP:0010916	Abnormal circulating alanine concentration	57176	VARS2	OMIM:615917
HP:0010916	Abnormal circulating alanine concentration	2203	FBP1	ORPHA:348
HP:0010916	Abnormal circulating alanine concentration	80222	TARS2	OMIM:615918
HP:0010916	Abnormal circulating alanine concentration	4535	MT-ND1	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4536	MT-ND2	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4537	MT-ND3	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4538	MT-ND4	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4567	MT-TL1	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4578	MT-TW	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4577	MT-TV	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4508	MT-ATP6	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4540	MT-ND5	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4541	MT-ND6	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4566	MT-TK	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	8050	PDHX	OMIM:245349
HP:0010916	Abnormal circulating alanine concentration	4716	NDUFB10	OMIM:619003
HP:0010916	Abnormal circulating alanine concentration	6341	SCO1	OMIM:619048
HP:0010916	Abnormal circulating alanine concentration	7385	UQCRC2	OMIM:615160
HP:0010916	Abnormal circulating alanine concentration	5160	PDHA1	OMIM:312170
HP:0010916	Abnormal circulating alanine concentration	1352	COX10	OMIM:619046
HP:0010916	Abnormal circulating alanine concentration	387787	LIPT2	OMIM:617668
HP:0010916	Abnormal circulating alanine concentration	1841	DTYMK	OMIM:619847
HP:0010916	Abnormal circulating alanine concentration	4285	MIPEP	OMIM:617228
HP:0010916	Abnormal circulating alanine concentration	54931	TRMT10C	OMIM:616974
HP:0010916	Abnormal circulating alanine concentration	5428	POLG	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	1890	TYMP	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	3980	LIG3	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	50484	RRM2B	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	1340	COX6B1	OMIM:619051
HP:0010916	Abnormal circulating alanine concentration	90161	HS6ST2	OMIM:301025
HP:0010916	Abnormal circulating alanine concentration	4718	NDUFC2	OMIM:619170
HP:0010916	Abnormal circulating alanine concentration	1351	COX8A	OMIM:619059
HP:0010916	Abnormal circulating alanine concentration	51116	MRPS2	OMIM:617950
HP:0010916	Abnormal circulating alanine concentration	125988	MICOS13	OMIM:618329
HP:0010916	Abnormal circulating alanine concentration	4724	NDUFS4	OMIM:252010
HP:0010916	Abnormal circulating alanine concentration	162417	NAGS	ORPHA:927
HP:0010916	Abnormal circulating alanine concentration	51079	NDUFA13	OMIM:618249
HP:0010916	Abnormal circulating alanine concentration	291	SLC25A4	OMIM:615418
HP:0010916	Abnormal circulating alanine concentration	54704	PDP1	ORPHA:79246
HP:0010916	Abnormal circulating alanine concentration	9377	COX5A	OMIM:619064
HP:0010916	Abnormal circulating alanine concentration	55863	TMEM126B	OMIM:618250
HP:0010916	Abnormal circulating alanine concentration	54968	TMEM70	OMIM:614052
HP:0010916	Abnormal circulating alanine concentration	3735	KARS1	OMIM:619147
HP:0010916	Abnormal circulating alanine concentration	63931	MRPS14	OMIM:618378
HP:0010916	Abnormal circulating alanine concentration	9054	NFS1	OMIM:619386
HP:0010916	Abnormal circulating alanine concentration	57017	COQ9	OMIM:614654
HP:0010916	Abnormal circulating alanine concentration	84947	SERAC1	OMIM:614739
HP:0010916	Abnormal circulating alanine concentration	10165	SLC25A13	ORPHA:247598
HP:0000700	Periapical bone loss	1834	DSPP	OMIM:125500
HP:0000700	Periapical bone loss	64094	SMOC2	OMIM:125400
HP:0000703	Dentinogenesis imperfecta	1834	DSPP	OMIM:125500
HP:0000703	Dentinogenesis imperfecta	5251	PHEX	ORPHA:89936
HP:0000703	Dentinogenesis imperfecta	9321	TRIP11	ORPHA:166272
HP:0000703	Dentinogenesis imperfecta	9321	TRIP11	OMIM:184260
HP:0000703	Dentinogenesis imperfecta	126792	B3GALT6	ORPHA:536467
HP:0000703	Dentinogenesis imperfecta	79879	CCDC134	OMIM:619795
HP:0000703	Dentinogenesis imperfecta	5034	P4HB	OMIM:112240
HP:0000703	Dentinogenesis imperfecta	84627	ZNF469	OMIM:229200
HP:0000703	Dentinogenesis imperfecta	10491	CRTAP	OMIM:610682
HP:0000703	Dentinogenesis imperfecta	5479	PPIB	OMIM:259440
HP:0000703	Dentinogenesis imperfecta	1277	COL1A1	OMIM:259420
HP:0000703	Dentinogenesis imperfecta	1277	COL1A1	OMIM:166220
HP:0000703	Dentinogenesis imperfecta	1277	COL1A1	OMIM:166200
HP:0000703	Dentinogenesis imperfecta	1278	COL1A2	OMIM:259420
HP:0000703	Dentinogenesis imperfecta	1278	COL1A2	OMIM:166220
HP:0000703	Dentinogenesis imperfecta	6678	SPARC	OMIM:616507
HP:0000703	Dentinogenesis imperfecta	387733	IFITM5	OMIM:610967
HP:0000703	Dentinogenesis imperfecta	60681	FKBP10	OMIM:610968
HP:0000703	Dentinogenesis imperfecta	51360	MBTPS2	OMIM:301014
HP:0000703	Dentinogenesis imperfecta	9871	SEC24D	OMIM:616294
HP:0000703	Dentinogenesis imperfecta	375056	MIA3	OMIM:619269
HP:0000703	Dentinogenesis imperfecta	5176	SERPINF1	OMIM:613982
HP:0000703	Dentinogenesis imperfecta	649	BMP1	OMIM:614856
HP:0000703	Dentinogenesis imperfecta	871	SERPINH1	OMIM:613848
HP:0000703	Dentinogenesis imperfecta	121340	SP7	OMIM:613849
HP:0000703	Dentinogenesis imperfecta	64175	P3H1	OMIM:610915
HP:0000706	Eruption failure	64135	IFIH1	OMIM:182250
HP:0000706	Eruption failure	84168	ANTXR1	OMIM:230740
HP:0000706	Eruption failure	221496	LEMD2	OMIM:619322
HP:0000706	Eruption failure	7204	TRIO	ORPHA:476126
HP:0000706	Eruption failure	2316	FLNA	OMIM:311300
HP:0000706	Eruption failure	6452	SH3BP2	OMIM:118400
HP:0000706	Eruption failure	3239	HOXD13	OMIM:113300
HP:0000706	Eruption failure	2260	FGFR1	ORPHA:2645
HP:0000706	Eruption failure	5745	PTH1R	OMIM:600002
HP:0000706	Eruption failure	324	APC	ORPHA:79665
HP:0000706	Eruption failure	23347	SMCHD1	ORPHA:2250
HP:0000706	Eruption failure	2317	FLNB	OMIM:272460
HP:0000706	Eruption failure	6925	TCF4	ORPHA:2896
HP:0000706	Eruption failure	6885	MAP3K7	ORPHA:3238
HP:0000706	Eruption failure	4000	LMNA	ORPHA:740
HP:0000706	Eruption failure	10269	ZMPSTE24	ORPHA:740
HP:0000706	Eruption failure	1009	CDH11	OMIM:211380
HP:0000709	Psychosis	57526	PCDH19	ORPHA:101039
HP:0000709	Psychosis	57526	PCDH19	OMIM:300088
HP:0000709	Psychosis	875	CBS	ORPHA:394
HP:0000709	Psychosis	4558	MT-TF	ORPHA:550
HP:0000709	Psychosis	4572	MT-TQ	ORPHA:550
HP:0000709	Psychosis	4512	MT-CO1	ORPHA:550
HP:0000709	Psychosis	4513	MT-CO2	ORPHA:550
HP:0000709	Psychosis	4514	MT-CO3	ORPHA:550
HP:0000709	Psychosis	4578	MT-TW	ORPHA:550
HP:0000709	Psychosis	4540	MT-ND5	ORPHA:550
HP:0000709	Psychosis	4541	MT-ND6	ORPHA:550
HP:0000709	Psychosis	4535	MT-ND1	ORPHA:550
HP:0000709	Psychosis	4538	MT-ND4	ORPHA:550
HP:0000709	Psychosis	4567	MT-TL1	ORPHA:550
HP:0000709	Psychosis	4574	MT-TS1	ORPHA:550
HP:0000709	Psychosis	4575	MT-TS2	ORPHA:550
HP:0000709	Psychosis	4564	MT-TH	ORPHA:550
HP:0000709	Psychosis	4524	MTHFR	ORPHA:395
HP:0000709	Psychosis	51256	TBC1D7	OMIM:248000
HP:0000709	Psychosis	2778	GNAS	OMIM:219080
HP:0000709	Psychosis	6775	STAT4	ORPHA:93552
HP:0000709	Psychosis	6696	SPP1	ORPHA:93552
HP:0000709	Psychosis	3654	IRAK1	ORPHA:93552
HP:0000709	Psychosis	4693	NDP	OMIM:310600
HP:0000709	Psychosis	4693	NDP	ORPHA:649
HP:0000709	Psychosis	7681	MKRN3	OMIM:176270
HP:0000709	Psychosis	3653	IPW	OMIM:176270
HP:0000709	Psychosis	54551	MAGEL2	OMIM:176270
HP:0000709	Psychosis	54551	MAGEL2	ORPHA:177904
HP:0000709	Psychosis	54551	MAGEL2	ORPHA:177901
HP:0000709	Psychosis	54551	MAGEL2	ORPHA:398069
HP:0000709	Psychosis	54551	MAGEL2	ORPHA:98754
HP:0000709	Psychosis	791114	PWRN1	OMIM:176270
HP:0000709	Psychosis	100033413	SNORD116-1	OMIM:176270
HP:0000709	Psychosis	8924	HERC2	OMIM:176270
HP:0000709	Psychosis	145624	PWAR1	OMIM:176270
HP:0000709	Psychosis	23742	NPAP1	OMIM:176270
HP:0000709	Psychosis	338433	SNORD115-1	OMIM:176270
HP:0000709	Psychosis	5155	PDGFB	OMIM:615483
HP:0000709	Psychosis	5155	PDGFB	OMIM:213600
HP:0000709	Psychosis	57582	KCNT1	OMIM:615005
HP:0000709	Psychosis	6492	SIM1	ORPHA:398079
HP:0000709	Psychosis	57505	AARS2	OMIM:615889
HP:0000709	Psychosis	5053	PAH	OMIM:261600
HP:0000709	Psychosis	50940	PDE11A	OMIM:610475
HP:0000709	Psychosis	5498	PPOX	OMIM:176200
HP:0000709	Psychosis	3077	HFE	OMIM:176200
HP:0000709	Psychosis	3781	KCNN2	OMIM:619725
HP:0000709	Psychosis	51114	ZDHHC9	ORPHA:776
HP:0000709	Psychosis	65109	UPF3B	ORPHA:776
HP:0000709	Psychosis	9968	MED12	ORPHA:776
HP:0000709	Psychosis	9968	MED12	OMIM:309520
HP:0000709	Psychosis	6638	SNRPN	ORPHA:177904
HP:0000709	Psychosis	6638	SNRPN	ORPHA:177901
HP:0000709	Psychosis	6638	SNRPN	ORPHA:98754
HP:0000709	Psychosis	4692	NDN	ORPHA:177904
HP:0000709	Psychosis	4692	NDN	ORPHA:177901
HP:0000709	Psychosis	4692	NDN	ORPHA:98754
HP:0000709	Psychosis	4948	OCA2	ORPHA:177904
HP:0000709	Psychosis	4948	OCA2	ORPHA:177901
HP:0000709	Psychosis	4948	OCA2	ORPHA:98754
HP:0000709	Psychosis	84196	USP48	ORPHA:96253
HP:0000709	Psychosis	7157	TP53	ORPHA:96253
HP:0000709	Psychosis	9101	USP8	ORPHA:96253
HP:0000709	Psychosis	64072	CDH23	ORPHA:96253
HP:0000709	Psychosis	2908	NR3C1	ORPHA:96253
HP:0000709	Psychosis	673	BRAF	ORPHA:96253
HP:0000709	Psychosis	546	ATRX	ORPHA:96253
HP:0000709	Psychosis	4204	MECP2	OMIM:300055
HP:0000709	Psychosis	9692	PRORP	OMIM:619737
HP:0000709	Psychosis	10352	WARS2	OMIM:619738
HP:0000709	Psychosis	340024	SLC6A19	OMIM:234500
HP:0000709	Psychosis	6575	SLC20A2	OMIM:213600
HP:0000709	Psychosis	5159	PDGFRB	OMIM:213600
HP:0000709	Psychosis	5573	PRKAR1A	OMIM:610489
HP:0000709	Psychosis	1201	CLN3	ORPHA:228346
HP:0000709	Psychosis	1201	CLN3	OMIM:204200
HP:0000709	Psychosis	4864	NPC1	OMIM:257220
HP:0000709	Psychosis	83480	PUS3	ORPHA:488627
HP:0000709	Psychosis	23111	SPART	ORPHA:101000
HP:0000709	Psychosis	215	ABCD1	OMIM:300100
HP:0000709	Psychosis	9445	ITM2B	OMIM:117300
HP:0000709	Psychosis	7466	WFS1	OMIM:614296
HP:0000709	Psychosis	7466	WFS1	ORPHA:411590
HP:0000709	Psychosis	54664	TMEM106B	OMIM:617964
HP:0000709	Psychosis	54664	TMEM106B	ORPHA:275864
HP:0000709	Psychosis	80208	SPG11	ORPHA:2822
HP:0000709	Psychosis	6197	RPS6KA3	ORPHA:276630
HP:0000709	Psychosis	773	CACNA1A	OMIM:141500
HP:0000709	Psychosis	4854	NOTCH3	OMIM:125310
HP:0000709	Psychosis	7915	ALDH5A1	OMIM:271980
HP:0000709	Psychosis	56978	PRDM8	OMIM:616640
HP:0000709	Psychosis	35	ACADS	OMIM:201470
HP:0000709	Psychosis	10847	SRCAP	OMIM:619595
HP:0000709	Psychosis	5063	PAK3	OMIM:300558
HP:0000709	Psychosis	54902	TTC19	OMIM:615157
HP:0000709	Psychosis	8364	H4C3	OMIM:619758
HP:0000709	Psychosis	80067	DCAF17	ORPHA:3464
HP:0000709	Psychosis	80067	DCAF17	OMIM:241080
HP:0000709	Psychosis	23503	ZFYVE26	OMIM:270700
HP:0000709	Psychosis	7750	ZMYM2	OMIM:619522
HP:0000709	Psychosis	23230	VPS13A	OMIM:200150
HP:0000709	Psychosis	57462	MYORG	OMIM:618317
HP:0000709	Psychosis	2729	GCLC	ORPHA:33574
HP:0000709	Psychosis	1786	DNMT1	OMIM:604121
HP:0000709	Psychosis	56652	TWNK	OMIM:271245
HP:0000709	Psychosis	5621	PRNP	OMIM:137440
HP:0000709	Psychosis	10577	NPC2	OMIM:607625
HP:0000709	Psychosis	80025	PANK2	ORPHA:216873
HP:0000709	Psychosis	55084	SOBP	OMIM:613671
HP:0000709	Psychosis	10165	SLC25A13	ORPHA:247585
HP:0000709	Psychosis	25974	MMACHC	ORPHA:79282
HP:0000709	Psychosis	6314	ATXN7	ORPHA:94147
HP:0000709	Psychosis	84188	FAR1	ORPHA:447753
HP:0000709	Psychosis	5832	ALDH18A1	ORPHA:447753
HP:0000709	Psychosis	2512	FTL	ORPHA:157846
HP:0000709	Psychosis	11277	TREX1	ORPHA:247691
HP:0000709	Psychosis	11277	TREX1	OMIM:152700
HP:0000709	Psychosis	8295	TRRAP	OMIM:618454
HP:0000709	Psychosis	8665	EIF3F	OMIM:618295
HP:0000709	Psychosis	80199	FUZ	ORPHA:1136
HP:0000709	Psychosis	2212	FCGR2A	OMIM:152700
HP:0000709	Psychosis	2213	FCGR2B	OMIM:152700
HP:0000709	Psychosis	26191	PTPN22	OMIM:152700
HP:0000709	Psychosis	1493	CTLA4	OMIM:152700
HP:0000709	Psychosis	1773	DNASE1	OMIM:152700
HP:0000709	Psychosis	7957	EPM2A	OMIM:254780
HP:0000709	Psychosis	378884	NHLRC1	OMIM:254780
HP:0000709	Psychosis	55367	PIDD1	OMIM:619827
HP:0000709	Psychosis	25978	CHMP2B	ORPHA:275864
HP:0000709	Psychosis	5663	PSEN1	ORPHA:275864
HP:0000709	Psychosis	2896	GRN	ORPHA:275864
HP:0000709	Psychosis	8878	SQSTM1	ORPHA:275864
HP:0000709	Psychosis	4137	MAPT	ORPHA:275864
HP:0000709	Psychosis	54209	TREM2	ORPHA:275864
HP:0000709	Psychosis	7415	VCP	ORPHA:275864
HP:0000709	Psychosis	1371	CPOX	ORPHA:79273
HP:0000709	Psychosis	3720	JARID2	OMIM:620098
HP:0000709	Psychosis	9990	SLC12A6	OMIM:218000
HP:0000709	Psychosis	9056	SLC7A7	OMIM:222700
HP:0000709	Psychosis	11315	PARK7	OMIM:606324
HP:0000709	Psychosis	727676	SNORD118	ORPHA:542310
HP:0000709	Psychosis	79798	ARMC5	ORPHA:189427
HP:0000709	Psychosis	5566	PRKACA	ORPHA:189439
HP:0000709	Psychosis	8622	PDE8B	ORPHA:189439
HP:0000709	Psychosis	162417	NAGS	ORPHA:927
HP:0000709	Psychosis	10531	PITRM1	OMIM:619405
HP:0000709	Psychosis	3145	HMBS	OMIM:176000
HP:0000709	Psychosis	23400	ATP13A2	OMIM:606693
HP:0000709	Psychosis	1137	CHRNA4	ORPHA:98784
HP:0000709	Psychosis	1135	CHRNA2	ORPHA:98784
HP:0000709	Psychosis	57010	CABP4	ORPHA:98784
HP:0000709	Psychosis	1141	CHRNB2	ORPHA:98784
HP:0000709	Psychosis	1392	CRH	ORPHA:98784
HP:0000709	Psychosis	9681	DEPDC5	ORPHA:98784
HP:0000709	Psychosis	2937	GSS	OMIM:266130
HP:0000709	Psychosis	9049	AIP	OMIM:219090
HP:0000709	Psychosis	9896	FIG4	ORPHA:208441
HP:0000709	Psychosis	23732	FRRS1L	ORPHA:725
HP:0000709	Psychosis	2903	GRIN2A	ORPHA:725
HP:0000709	Psychosis	8659	ALDH4A1	ORPHA:79101
HP:0010922	Membranous cataract	1427	CRYGS	OMIM:116100
HP:0010923	Anterior subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0010923	Anterior subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0010923	Anterior subcapsular cataract	7490	WT1	OMIM:106210
HP:0010923	Anterior subcapsular cataract	5080	PAX6	OMIM:106210
HP:0010924	Posterior cortical cataract	4952	OCRL	OMIM:309000
HP:0010924	Posterior cortical cataract	80207	OPA3	ORPHA:67036
HP:0010924	Posterior cortical cataract	55229	PANK4	OMIM:619593
HP:0010925	Nuclear punctate cataract	2702	GJA5	OMIM:612474
HP:0010925	Nuclear punctate cataract	2703	GJA8	OMIM:612474
HP:0010925	Nuclear punctate cataract	1420	CRYGC	OMIM:604307
HP:0010925	Nuclear punctate cataract	1415	CRYBB2	OMIM:601547
HP:0010926	Aculeiform cataract	1420	CRYGC	OMIM:604307
HP:0010929	Abnormal blood cation concentration	5076	PAX2	ORPHA:97362
HP:0010929	Abnormal blood cation concentration	5087	PBX1	ORPHA:97362
HP:0010929	Abnormal blood cation concentration	4791	NFKB2	ORPHA:293978
HP:0010929	Abnormal blood cation concentration	5447	POR	OMIM:201750
HP:0010929	Abnormal blood cation concentration	54809	SAMD9	OMIM:617053
HP:0010929	Abnormal blood cation concentration	6261	RYR1	ORPHA:466650
HP:0010929	Abnormal blood cation concentration	6261	RYR1	ORPHA:423
HP:0010929	Abnormal blood cation concentration	6261	RYR1	OMIM:145600
HP:0010929	Abnormal blood cation concentration	10058	ABCB6	ORPHA:90044
HP:0010929	Abnormal blood cation concentration	10058	ABCB6	OMIM:609153
HP:0010929	Abnormal blood cation concentration	23175	LPIN1	OMIM:268200
HP:0010929	Abnormal blood cation concentration	23175	LPIN1	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	6340	SCNN1G	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6340	SCNN1G	OMIM:620126
HP:0010929	Abnormal blood cation concentration	6337	SCNN1A	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6337	SCNN1A	OMIM:264350
HP:0010929	Abnormal blood cation concentration	6338	SCNN1B	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6338	SCNN1B	OMIM:620125
HP:0010929	Abnormal blood cation concentration	4306	NR3C2	OMIM:177735
HP:0010929	Abnormal blood cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	6513	SLC2A1	OMIM:608885
HP:0010929	Abnormal blood cation concentration	3284	HSD3B2	ORPHA:90791
HP:0010929	Abnormal blood cation concentration	3284	HSD3B2	OMIM:201810
HP:0010929	Abnormal blood cation concentration	771	CA12	OMIM:143860
HP:0010929	Abnormal blood cation concentration	9095	TBX19	ORPHA:199296
HP:0010929	Abnormal blood cation concentration	10463	SLC30A9	OMIM:617595
HP:0010929	Abnormal blood cation concentration	11232	POLG2	OMIM:618528
HP:0010929	Abnormal blood cation concentration	1583	CYP11A1	ORPHA:168558
HP:0010929	Abnormal blood cation concentration	1583	CYP11A1	ORPHA:289548
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	OMIM:203400
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	OMIM:610600
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	ORPHA:556030
HP:0010929	Abnormal blood cation concentration	6522	SLC4A2	OMIM:620366
HP:0010929	Abnormal blood cation concentration	226	ALDOA	ORPHA:57
HP:0010929	Abnormal blood cation concentration	56246	MRAP	ORPHA:361
HP:0010929	Abnormal blood cation concentration	6770	STAR	ORPHA:361
HP:0010929	Abnormal blood cation concentration	4158	MC2R	ORPHA:361
HP:0010929	Abnormal blood cation concentration	23530	NNT	ORPHA:361
HP:0010929	Abnormal blood cation concentration	23530	NNT	OMIM:614736
HP:0010929	Abnormal blood cation concentration	10587	TXNRD2	ORPHA:361
HP:0010929	Abnormal blood cation concentration	65266	WNK4	OMIM:614491
HP:0010929	Abnormal blood cation concentration	65125	WNK1	OMIM:614492
HP:0010929	Abnormal blood cation concentration	26249	KLHL3	OMIM:614495
HP:0010929	Abnormal blood cation concentration	8452	CUL3	OMIM:614496
HP:0010929	Abnormal blood cation concentration	27130	INVS	OMIM:602088
HP:0010929	Abnormal blood cation concentration	1594	CYP27B1	OMIM:264700
HP:0010929	Abnormal blood cation concentration	1594	CYP27B1	ORPHA:289157
HP:0010929	Abnormal blood cation concentration	120227	CYP2R1	ORPHA:289157
HP:0010929	Abnormal blood cation concentration	2625	GATA3	ORPHA:2237
HP:0010929	Abnormal blood cation concentration	7421	VDR	OMIM:277440
HP:0010929	Abnormal blood cation concentration	5741	PTH	OMIM:146200
HP:0010929	Abnormal blood cation concentration	5311	PKD2	OMIM:613095
HP:0010929	Abnormal blood cation concentration	776	CACNA1D	OMIM:615474
HP:0010929	Abnormal blood cation concentration	776	CACNA1D	ORPHA:369929
HP:0010929	Abnormal blood cation concentration	3643	INSR	ORPHA:508
HP:0010929	Abnormal blood cation concentration	3643	INSR	ORPHA:769
HP:0010929	Abnormal blood cation concentration	3291	HSD11B2	OMIM:218030
HP:0010929	Abnormal blood cation concentration	3291	HSD11B2	ORPHA:320
HP:0010929	Abnormal blood cation concentration	2908	NR3C1	ORPHA:786
HP:0010929	Abnormal blood cation concentration	6514	SLC2A2	OMIM:227810
HP:0010929	Abnormal blood cation concentration	2628	GATM	OMIM:134600
HP:0010929	Abnormal blood cation concentration	2628	GATM	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	OMIM:202010
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	ORPHA:90795
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	ORPHA:403
HP:0010929	Abnormal blood cation concentration	866	SERPINA6	OMIM:611489
HP:0010929	Abnormal blood cation concentration	1586	CYP17A1	ORPHA:90793
HP:0010929	Abnormal blood cation concentration	1962	EHHADH	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	137682	NDUFAF6	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	801	CALM1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3753	KCNE1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	OMIM:613677
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	ORPHA:251274
HP:0010929	Abnormal blood cation concentration	805	CALM2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6910	TBX5	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6336	SCN10A	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3757	KCNH2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	9992	KCNE2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	10142	AKAP9	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	9722	NOS1AP	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	775	CACNA1C	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3784	KCNQ1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	10345	TRDN	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6331	SCN5A	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6330	SCN4B	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	808	CALM3	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6640	SNTA1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	859	CAV3	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	287	ANK2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	8671	SLC4A4	OMIM:604278
HP:0010929	Abnormal blood cation concentration	55898	UNC45A	OMIM:619377
HP:0010929	Abnormal blood cation concentration	4089	SMAD4	OMIM:174900
HP:0010929	Abnormal blood cation concentration	657	BMPR1A	OMIM:174900
HP:0010929	Abnormal blood cation concentration	50619	DEF6	OMIM:619573
HP:0010929	Abnormal blood cation concentration	3759	KCNJ2	OMIM:170390
HP:0010929	Abnormal blood cation concentration	1181	CLCN2	ORPHA:404
HP:0010929	Abnormal blood cation concentration	1181	CLCN2	OMIM:605635
HP:0010929	Abnormal blood cation concentration	84133	ZNRF3	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	7157	TP53	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	5573	PRKAR1A	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	1499	CTNNB1	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	1029	CDKN2A	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	7015	TERT	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	50617	ATP6V0A4	OMIM:602722
HP:0010929	Abnormal blood cation concentration	1281	COL3A1	ORPHA:286
HP:0010929	Abnormal blood cation concentration	64072	CDH23	ORPHA:91347
HP:0010929	Abnormal blood cation concentration	9049	AIP	OMIM:219090
HP:0010929	Abnormal blood cation concentration	9101	USP8	OMIM:219090
HP:0010929	Abnormal blood cation concentration	1576	CYP3A4	OMIM:619073
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	OMIM:259700
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	ORPHA:667
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:667
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:53
HP:0010929	Abnormal blood cation concentration	9842	PLEKHM1	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	8074	FGF23	ORPHA:89937
HP:0010929	Abnormal blood cation concentration	9508	ADAMTS3	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	147372	CCBE1	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	79633	FAT4	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	857	CAV1	OMIM:612526
HP:0010929	Abnormal blood cation concentration	3032	HADHB	ORPHA:746
HP:0010929	Abnormal blood cation concentration	3030	HADHA	ORPHA:746
HP:0010929	Abnormal blood cation concentration	10056	FARSB	OMIM:613658
HP:0010929	Abnormal blood cation concentration	29887	SNX10	ORPHA:667
HP:0010929	Abnormal blood cation concentration	8600	TNFSF11	ORPHA:667
HP:0010929	Abnormal blood cation concentration	149775	GNAS-AS1	OMIM:603233
HP:0010929	Abnormal blood cation concentration	197131	UBR1	OMIM:243800
HP:0010929	Abnormal blood cation concentration	1436	CSF1R	OMIM:618476
HP:0010929	Abnormal blood cation concentration	84876	ORAI1	OMIM:615883
HP:0010929	Abnormal blood cation concentration	9993	DGCR2	OMIM:192430
HP:0010929	Abnormal blood cation concentration	8220	ESS2	OMIM:192430
HP:0010929	Abnormal blood cation concentration	8214	DGCR6	OMIM:192430
HP:0010929	Abnormal blood cation concentration	54487	DGCR8	OMIM:192430
HP:0010929	Abnormal blood cation concentration	6899	TBX1	OMIM:192430
HP:0010929	Abnormal blood cation concentration	6899	TBX1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	6899	TBX1	OMIM:188400
HP:0010929	Abnormal blood cation concentration	5495	PPM1B	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	6519	SLC3A1	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	9581	PREPL	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	79823	CAMKMT	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	695	BTK	ORPHA:47
HP:0010929	Abnormal blood cation concentration	6023	RMRP	ORPHA:175
HP:0010929	Abnormal blood cation concentration	54532	USP53	OMIM:619658
HP:0010929	Abnormal blood cation concentration	3117	HLA-DQA1	OMIM:212750
HP:0010929	Abnormal blood cation concentration	3119	HLA-DQB1	OMIM:212750
HP:0010929	Abnormal blood cation concentration	1312	COMT	ORPHA:567
HP:0010929	Abnormal blood cation concentration	221037	JMJD1C	ORPHA:567
HP:0010929	Abnormal blood cation concentration	2812	GP1BB	ORPHA:567
HP:0010929	Abnormal blood cation concentration	6239	RREB1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	7290	HIRA	ORPHA:567
HP:0010929	Abnormal blood cation concentration	9632	SEC24C	ORPHA:567
HP:0010929	Abnormal blood cation concentration	7353	UFD1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	421	ARVCF	ORPHA:567
HP:0010929	Abnormal blood cation concentration	55764	IFT122	OMIM:218330
HP:0010929	Abnormal blood cation concentration	28962	OSTM1	OMIM:259720
HP:0010929	Abnormal blood cation concentration	37	ACADVL	ORPHA:26793
HP:0010929	Abnormal blood cation concentration	5144	PDE4D	ORPHA:280651
HP:0010929	Abnormal blood cation concentration	55636	CHD7	OMIM:214800
HP:0010929	Abnormal blood cation concentration	760	CA2	ORPHA:2785
HP:0010929	Abnormal blood cation concentration	54914	FOCAD	OMIM:619991
HP:0010929	Abnormal blood cation concentration	8518	ELP1	ORPHA:1764
HP:0010929	Abnormal blood cation concentration	8021	NUP214	OMIM:618426
HP:0010929	Abnormal blood cation concentration	10102	TSFM	OMIM:610505
HP:0010929	Abnormal blood cation concentration	5551	PRF1	OMIM:603553
HP:0010929	Abnormal blood cation concentration	190	NR0B1	OMIM:300200
HP:0010929	Abnormal blood cation concentration	1811	SLC26A3	OMIM:214700
HP:0010929	Abnormal blood cation concentration	3662	IRF4	ORPHA:3452
HP:0010929	Abnormal blood cation concentration	471	ATIC	OMIM:608688
HP:0010929	Abnormal blood cation concentration	4952	OCRL	ORPHA:534
HP:0010929	Abnormal blood cation concentration	199221	DZIP1L	ORPHA:731
HP:0010929	Abnormal blood cation concentration	5314	PKHD1	ORPHA:731
HP:0010929	Abnormal blood cation concentration	10916	MAGED2	OMIM:300971
HP:0010929	Abnormal blood cation concentration	210	ALAD	ORPHA:100924
HP:0010929	Abnormal blood cation concentration	50628	GEMIN4	OMIM:617913
HP:0010929	Abnormal blood cation concentration	51567	TDP2	OMIM:616949
HP:0010929	Abnormal blood cation concentration	79087	ALG12	ORPHA:79324
HP:0010929	Abnormal blood cation concentration	9451	EIF2AK3	ORPHA:1667
HP:0010929	Abnormal blood cation concentration	79053	ALG8	ORPHA:79325
HP:0010929	Abnormal blood cation concentration	1130	LYST	ORPHA:167
HP:0010929	Abnormal blood cation concentration	4714	NDUFB8	OMIM:618252
HP:0010929	Abnormal blood cation concentration	1371	CPOX	ORPHA:79273
HP:0010929	Abnormal blood cation concentration	5498	PPOX	ORPHA:79473
HP:0010929	Abnormal blood cation concentration	3145	HMBS	ORPHA:79276
HP:0010929	Abnormal blood cation concentration	7187	TRAF3	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	81622	UNC93B1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	148022	TICAM1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	7098	TLR3	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	29110	TBK1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	140803	TRPM6	OMIM:602014
HP:0010929	Abnormal blood cation concentration	83483	PLVAP	OMIM:618183
HP:0010929	Abnormal blood cation concentration	7809	BSND	ORPHA:89938
HP:0010929	Abnormal blood cation concentration	1188	CLCNKB	ORPHA:89938
HP:0010929	Abnormal blood cation concentration	1188	CLCNKB	ORPHA:358
HP:0010929	Abnormal blood cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010929	Abnormal blood cation concentration	486	FXYD2	OMIM:154020
HP:0010929	Abnormal blood cation concentration	1621	DBH	OMIM:223360
HP:0010929	Abnormal blood cation concentration	3766	KCNJ10	OMIM:612780
HP:0010929	Abnormal blood cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010929	Abnormal blood cation concentration	50943	FOXP3	ORPHA:37042
HP:0010929	Abnormal blood cation concentration	1950	EGF	OMIM:611718
HP:0010929	Abnormal blood cation concentration	5442	POLRMT	OMIM:619743
HP:0010929	Abnormal blood cation concentration	3758	KCNJ1	OMIM:241200
HP:0010929	Abnormal blood cation concentration	54805	CNNM2	OMIM:613882
HP:0010929	Abnormal blood cation concentration	54805	CNNM2	OMIM:616418
HP:0010929	Abnormal blood cation concentration	6559	SLC12A3	OMIM:263800
HP:0010929	Abnormal blood cation concentration	6559	SLC12A3	ORPHA:358
HP:0010929	Abnormal blood cation concentration	2783	GNB2	OMIM:619503
HP:0010929	Abnormal blood cation concentration	54938	SARS2	OMIM:613845
HP:0010929	Abnormal blood cation concentration	7074	TIAM1	OMIM:619908
HP:0010929	Abnormal blood cation concentration	5092	PCBD1	ORPHA:1578
HP:0010929	Abnormal blood cation concentration	58528	RRAGD	OMIM:620152
HP:0010929	Abnormal blood cation concentration	9071	CLDN10	OMIM:617671
HP:0010929	Abnormal blood cation concentration	229	ALDOB	ORPHA:469
HP:0010929	Abnormal blood cation concentration	3939	LDHA	ORPHA:284426
HP:0010929	Abnormal blood cation concentration	595	CCND1	ORPHA:29073
HP:0010929	Abnormal blood cation concentration	51604	PIGT	ORPHA:369837
HP:0010929	Abnormal blood cation concentration	6569	SLC34A1	OMIM:616963
HP:0010929	Abnormal blood cation concentration	55654	TMEM127	OMIM:171300
HP:0010929	Abnormal blood cation concentration	55654	TMEM127	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	5979	RET	OMIM:171300
HP:0010929	Abnormal blood cation concentration	5979	RET	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	5979	RET	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6390	SDHB	OMIM:171300
HP:0010929	Abnormal blood cation concentration	6390	SDHB	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6390	SDHB	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6392	SDHD	OMIM:171300
HP:0010929	Abnormal blood cation concentration	6392	SDHD	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6392	SDHD	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	4149	MAX	OMIM:171300
HP:0010929	Abnormal blood cation concentration	4149	MAX	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	7428	VHL	OMIM:171300
HP:0010929	Abnormal blood cation concentration	7428	VHL	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	7428	VHL	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	1743	DLST	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	4191	MDH2	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6389	SDHA	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	23095	KIF1B	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	2271	FH	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	8402	SLC25A11	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	54949	SDHAF2	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	4763	NF1	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6391	SDHC	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6804	STX1A	ORPHA:904
HP:0010929	Abnormal blood cation concentration	7461	CLIP2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	84277	DNAJC30	ORPHA:904
HP:0010929	Abnormal blood cation concentration	8468	FKBP6	ORPHA:904
HP:0010929	Abnormal blood cation concentration	5982	RFC2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2969	GTF2I	ORPHA:904
HP:0010929	Abnormal blood cation concentration	3984	LIMK1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	9569	GTF2IRD1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	155382	VPS37D	ORPHA:904
HP:0010929	Abnormal blood cation concentration	155368	METTL27	ORPHA:904
HP:0010929	Abnormal blood cation concentration	114049	BUD23	ORPHA:904
HP:0010929	Abnormal blood cation concentration	7458	EIF4H	ORPHA:904
HP:0010929	Abnormal blood cation concentration	84163	GTF2IRD2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	9275	BCL7B	ORPHA:904
HP:0010929	Abnormal blood cation concentration	26608	TBL2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	653361	NCF1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	135886	TMEM270	ORPHA:904
HP:0010929	Abnormal blood cation concentration	51085	MLXIPL	ORPHA:904
HP:0010929	Abnormal blood cation concentration	51085	MLXIPL	OMIM:194050
HP:0010929	Abnormal blood cation concentration	9031	BAZ1B	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2006	ELN	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2006	ELN	OMIM:194050
HP:0010929	Abnormal blood cation concentration	64324	NSD1	ORPHA:821
HP:0010929	Abnormal blood cation concentration	29072	SETD2	ORPHA:821
HP:0010929	Abnormal blood cation concentration	10297	APC2	ORPHA:821
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:143
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:145000
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:145001
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:99880
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:99879
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:608266
HP:0010929	Abnormal blood cation concentration	249	ALPL	OMIM:241500
HP:0010929	Abnormal blood cation concentration	7204	TRIO	ORPHA:476126
HP:0010929	Abnormal blood cation concentration	9247	GCM2	OMIM:617343
HP:0010929	Abnormal blood cation concentration	9247	GCM2	ORPHA:99879
HP:0010929	Abnormal blood cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010929	Abnormal blood cation concentration	4221	MEN1	ORPHA:652
HP:0010929	Abnormal blood cation concentration	4221	MEN1	OMIM:131100
HP:0010929	Abnormal blood cation concentration	4221	MEN1	ORPHA:99879
HP:0010929	Abnormal blood cation concentration	1027	CDKN1B	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1027	CDKN1B	ORPHA:276152
HP:0010929	Abnormal blood cation concentration	1026	CDKN1A	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1030	CDKN2B	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1031	CDKN2C	ORPHA:652
HP:0010929	Abnormal blood cation concentration	4854	NOTCH3	ORPHA:2591
HP:0010929	Abnormal blood cation concentration	5745	PTH1R	OMIM:156400
HP:0010929	Abnormal blood cation concentration	9365	KL	OMIM:617994
HP:0010929	Abnormal blood cation concentration	5286	PIK3C2A	OMIM:618440
HP:0010929	Abnormal blood cation concentration	5286	PIK3C2A	ORPHA:557003
HP:0010929	Abnormal blood cation concentration	2591	GALNT3	OMIM:211900
HP:0010929	Abnormal blood cation concentration	1788	DNMT3A	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	2034	EPAS1	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6557	SLC12A1	OMIM:601678
HP:0010929	Abnormal blood cation concentration	1175	AP2S1	OMIM:600740
HP:0010929	Abnormal blood cation concentration	846	CASR	OMIM:145980
HP:0010929	Abnormal blood cation concentration	846	CASR	OMIM:239200
HP:0010929	Abnormal blood cation concentration	2767	GNA11	OMIM:145981
HP:0010929	Abnormal blood cation concentration	1591	CYP24A1	OMIM:143880
HP:0010929	Abnormal blood cation concentration	8792	TNFRSF11A	OMIM:602080
HP:0010929	Abnormal blood cation concentration	1028	CDKN1C	OMIM:614732
HP:0010929	Abnormal blood cation concentration	56244	BTNL2	ORPHA:797
HP:0010929	Abnormal blood cation concentration	3123	HLA-DRB1	ORPHA:797
HP:0010929	Abnormal blood cation concentration	6850	SYK	OMIM:619381
HP:0010929	Abnormal blood cation concentration	554	AVPR2	ORPHA:223
HP:0010929	Abnormal blood cation concentration	554	AVPR2	OMIM:304800
HP:0010929	Abnormal blood cation concentration	359	AQP2	ORPHA:223
HP:0010929	Abnormal blood cation concentration	359	AQP2	OMIM:125800
HP:0010929	Abnormal blood cation concentration	2260	FGFR1	OMIM:615465
HP:0010929	Abnormal blood cation concentration	763	CA5A	OMIM:615751
HP:0010929	Abnormal blood cation concentration	1828	DSG1	OMIM:615508
HP:0010929	Abnormal blood cation concentration	9915	ARNT2	OMIM:615926
HP:0010929	Abnormal blood cation concentration	9493	KIF23	ORPHA:98870
HP:0010929	Abnormal blood cation concentration	29127	RACGAP1	ORPHA:98870
HP:0010929	Abnormal blood cation concentration	617	BCS1L	OMIM:603358
HP:0010929	Abnormal blood cation concentration	55240	STEAP3	ORPHA:300298
HP:0010929	Abnormal blood cation concentration	9652	SKIC3	OMIM:222470
HP:0010929	Abnormal blood cation concentration	4891	SLC11A2	OMIM:206100
HP:0010929	Abnormal blood cation concentration	57817	HAMP	OMIM:613313
HP:0010929	Abnormal blood cation concentration	148738	HJV	OMIM:602390
HP:0010929	Abnormal blood cation concentration	2495	FTH1	OMIM:615517
HP:0010929	Abnormal blood cation concentration	7036	TFR2	OMIM:604250
HP:0010929	Abnormal blood cation concentration	3077	HFE	OMIM:235200
HP:0010929	Abnormal blood cation concentration	650	BMP2	OMIM:235200
HP:0010929	Abnormal blood cation concentration	5313	PKLR	ORPHA:766
HP:0010929	Abnormal blood cation concentration	1758	DMP1	ORPHA:289176
HP:0010929	Abnormal blood cation concentration	5167	ENPP1	ORPHA:289176
HP:0010929	Abnormal blood cation concentration	2778	GNAS	OMIM:612462
HP:0010929	Abnormal blood cation concentration	2778	GNAS	OMIM:103580
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:94089
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:79443
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:79444
HP:0010929	Abnormal blood cation concentration	1497	CTNS	ORPHA:411634
HP:0010929	Abnormal blood cation concentration	8675	STX16	ORPHA:94089
HP:0010929	Abnormal blood cation concentration	6905	TBCE	ORPHA:93324
HP:0010929	Abnormal blood cation concentration	63901	FAM111A	ORPHA:93325
HP:0010929	Abnormal blood cation concentration	149461	CLDN19	OMIM:248190
HP:0010929	Abnormal blood cation concentration	5251	PHEX	OMIM:307800
HP:0010929	Abnormal blood cation concentration	10686	CLDN16	OMIM:248250
HP:0010929	Abnormal blood cation concentration	6575	SLC20A2	OMIM:213600
HP:0010929	Abnormal blood cation concentration	5155	PDGFB	OMIM:213600
HP:0010929	Abnormal blood cation concentration	5159	PDGFRB	OMIM:213600
HP:0010929	Abnormal blood cation concentration	55811	ADCY10	ORPHA:2197
HP:0010929	Abnormal blood cation concentration	79879	CCDC134	OMIM:619795
HP:0010929	Abnormal blood cation concentration	10568	SLC34A2	ORPHA:60025
HP:0010929	Abnormal blood cation concentration	142680	SLC34A3	OMIM:241530
HP:0010929	Abnormal blood cation concentration	64116	SLC39A8	ORPHA:468699
HP:0010929	Abnormal blood cation concentration	9997	SCO2	ORPHA:521411
HP:0010929	Abnormal blood cation concentration	23545	ATP6V0A2	ORPHA:2834
HP:0010929	Abnormal blood cation concentration	540	ATP7B	OMIM:277900
HP:0010929	Abnormal blood cation concentration	55532	SLC30A10	ORPHA:309854
HP:0010929	Abnormal blood cation concentration	6499	SKIC2	ORPHA:84064
HP:0010929	Abnormal blood cation concentration	212	ALAS2	ORPHA:75563
HP:0010929	Abnormal blood cation concentration	654	BMP6	ORPHA:465508
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231222
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231226
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231214
HP:0010929	Abnormal blood cation concentration	6521	SLC4A1	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	9780	PIEZO1	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	3783	KCNN4	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	9056	SLC7A7	ORPHA:470
HP:0010929	Abnormal blood cation concentration	1356	CP	ORPHA:48818
HP:0010929	Abnormal blood cation concentration	164656	TMPRSS6	ORPHA:209981
HP:0010929	Abnormal blood cation concentration	22796	COG2	ORPHA:435934
HP:0010929	Abnormal blood cation concentration	22796	COG2	OMIM:617395
HP:0010929	Abnormal blood cation concentration	538	ATP7A	OMIM:304150
HP:0010929	Abnormal blood cation concentration	162	AP1B1	ORPHA:171851
HP:0010929	Abnormal blood cation concentration	162	AP1B1	OMIM:242150
HP:0010929	Abnormal blood cation concentration	1174	AP1S1	ORPHA:171851
HP:0010929	Abnormal blood cation concentration	537	ATP6AP1	OMIM:300972
HP:0010929	Abnormal blood cation concentration	9197	SLC33A1	OMIM:614482
HP:0010929	Abnormal blood cation concentration	54977	SLC25A38	OMIM:205950
HP:0010929	Abnormal blood cation concentration	30061	SLC40A1	OMIM:606069
HP:0010929	Abnormal blood cation concentration	6329	SCN4A	ORPHA:681
HP:0010929	Abnormal blood cation concentration	779	CACNA1S	ORPHA:681
HP:0010929	Abnormal blood cation concentration	779	CACNA1S	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	10008	KCNE3	ORPHA:681
HP:0010929	Abnormal blood cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	2556	GABRA3	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	476	ATP1A1	ORPHA:564178
HP:0010929	Abnormal blood cation concentration	5825	ABCD3	OMIM:616278
HP:0010929	Abnormal blood cation concentration	4312	MMP1	ORPHA:79408
HP:0010929	Abnormal blood cation concentration	1294	COL7A1	ORPHA:79408
HP:0010929	Abnormal blood cation concentration	1294	COL7A1	ORPHA:89842
HP:0010929	Abnormal blood cation concentration	3376	IARS1	ORPHA:541423
HP:0010929	Abnormal blood cation concentration	3376	IARS1	OMIM:617093
HP:0010929	Abnormal blood cation concentration	7780	SLC30A2	OMIM:608118
HP:0010929	Abnormal blood cation concentration	55630	SLC39A4	OMIM:201100
HP:0010929	Abnormal blood cation concentration	23516	SLC39A14	ORPHA:521406
HP:0010929	Abnormal blood cation concentration	23516	SLC39A14	OMIM:617013
HP:0010929	Abnormal blood cation concentration	2512	FTL	OMIM:600886
HP:0010929	Abnormal blood cation concentration	2512	FTL	ORPHA:254704
HP:0010929	Abnormal blood cation concentration	64170	CARD9	OMIM:212050
HP:0010929	Abnormal blood cation concentration	51095	TRNT1	OMIM:616959
HP:0010929	Abnormal blood cation concentration	27086	FOXP1	ORPHA:391372
HP:0010929	Abnormal blood cation concentration	5277	PIGA	ORPHA:447
HP:0003218	Oroticaciduria	435	ASL	ORPHA:23
HP:0003218	Oroticaciduria	435	ASL	OMIM:207900
HP:0003218	Oroticaciduria	9056	SLC7A7	OMIM:222700
HP:0003218	Oroticaciduria	9056	SLC7A7	ORPHA:470
HP:0003218	Oroticaciduria	790	CAD	OMIM:616457
HP:0003218	Oroticaciduria	7372	UMPS	OMIM:258900
HP:0003218	Oroticaciduria	7372	UMPS	ORPHA:30
HP:0003218	Oroticaciduria	5009	OTC	OMIM:311250
HP:0003218	Oroticaciduria	383	ARG1	OMIM:207800
HP:0003218	Oroticaciduria	445	ASS1	OMIM:215700
HP:0003218	Oroticaciduria	498	ATP5F1A	OMIM:620358
HP:0003218	Oroticaciduria	10166	SLC25A15	ORPHA:415
HP:0010927	Abnormal blood inorganic cation concentration	9247	GCM2	OMIM:618883
HP:0010927	Abnormal blood inorganic cation concentration	9247	GCM2	ORPHA:2239
HP:0010927	Abnormal blood inorganic cation concentration	1594	CYP27B1	OMIM:264700
HP:0010927	Abnormal blood inorganic cation concentration	1594	CYP27B1	ORPHA:289157
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	OMIM:241410
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	ORPHA:93324
HP:0010927	Abnormal blood inorganic cation concentration	120227	CYP2R1	ORPHA:289157
HP:0010927	Abnormal blood inorganic cation concentration	2625	GATA3	ORPHA:2237
HP:0010927	Abnormal blood inorganic cation concentration	7421	VDR	OMIM:277440
HP:0010927	Abnormal blood inorganic cation concentration	5741	PTH	OMIM:146200
HP:0010927	Abnormal blood inorganic cation concentration	8792	TNFRSF11A	OMIM:612301
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:94089
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:79443
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:79444
HP:0010927	Abnormal blood inorganic cation concentration	8675	STX16	ORPHA:94089
HP:0010927	Abnormal blood inorganic cation concentration	63901	FAM111A	ORPHA:93325
HP:0010927	Abnormal blood inorganic cation concentration	1576	CYP3A4	OMIM:619073
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	OMIM:259700
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:53
HP:0010927	Abnormal blood inorganic cation concentration	9842	PLEKHM1	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	8074	FGF23	ORPHA:89937
HP:0010927	Abnormal blood inorganic cation concentration	54914	FOCAD	OMIM:619991
HP:0010927	Abnormal blood inorganic cation concentration	9508	ADAMTS3	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	147372	CCBE1	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	79633	FAT4	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	857	CAV1	OMIM:612526
HP:0010927	Abnormal blood inorganic cation concentration	3032	HADHB	ORPHA:746
HP:0010927	Abnormal blood inorganic cation concentration	3030	HADHA	ORPHA:746
HP:0010927	Abnormal blood inorganic cation concentration	10056	FARSB	OMIM:613658
HP:0010927	Abnormal blood inorganic cation concentration	6261	RYR1	ORPHA:466650
HP:0010927	Abnormal blood inorganic cation concentration	29887	SNX10	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	8600	TNFSF11	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	149775	GNAS-AS1	OMIM:603233
HP:0010927	Abnormal blood inorganic cation concentration	197131	UBR1	OMIM:243800
HP:0010927	Abnormal blood inorganic cation concentration	1436	CSF1R	OMIM:618476
HP:0010927	Abnormal blood inorganic cation concentration	84876	ORAI1	OMIM:615883
HP:0010927	Abnormal blood inorganic cation concentration	9993	DGCR2	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	8220	ESS2	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	8214	DGCR6	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	54487	DGCR8	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	OMIM:188400
HP:0010927	Abnormal blood inorganic cation concentration	23175	LPIN1	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	5495	PPM1B	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	6519	SLC3A1	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	9581	PREPL	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	79823	CAMKMT	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	695	BTK	ORPHA:47
HP:0010927	Abnormal blood inorganic cation concentration	775	CACNA1C	OMIM:601005
HP:0010927	Abnormal blood inorganic cation concentration	6023	RMRP	ORPHA:175
HP:0010927	Abnormal blood inorganic cation concentration	6521	SLC4A1	OMIM:179800
HP:0010927	Abnormal blood inorganic cation concentration	5286	PIK3C2A	OMIM:618440
HP:0010927	Abnormal blood inorganic cation concentration	5286	PIK3C2A	ORPHA:557003
HP:0010927	Abnormal blood inorganic cation concentration	50628	GEMIN4	OMIM:617913
HP:0010927	Abnormal blood inorganic cation concentration	54532	USP53	OMIM:619658
HP:0010927	Abnormal blood inorganic cation concentration	3117	HLA-DQA1	OMIM:212750
HP:0010927	Abnormal blood inorganic cation concentration	3119	HLA-DQB1	OMIM:212750
HP:0010927	Abnormal blood inorganic cation concentration	1312	COMT	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	221037	JMJD1C	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	2812	GP1BB	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	6239	RREB1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	7290	HIRA	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	9632	SEC24C	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	7353	UFD1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	421	ARVCF	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	55764	IFT122	OMIM:218330
HP:0010927	Abnormal blood inorganic cation concentration	79087	ALG12	OMIM:607143
HP:0010927	Abnormal blood inorganic cation concentration	28962	OSTM1	OMIM:259720
HP:0010927	Abnormal blood inorganic cation concentration	37	ACADVL	ORPHA:26793
HP:0010927	Abnormal blood inorganic cation concentration	5573	PRKAR1A	ORPHA:280651
HP:0010927	Abnormal blood inorganic cation concentration	5144	PDE4D	ORPHA:280651
HP:0010927	Abnormal blood inorganic cation concentration	55636	CHD7	OMIM:214800
HP:0010927	Abnormal blood inorganic cation concentration	760	CA2	ORPHA:2785
HP:0010927	Abnormal blood inorganic cation concentration	140803	TRPM6	OMIM:602014
HP:0010927	Abnormal blood inorganic cation concentration	83483	PLVAP	OMIM:618183
HP:0010927	Abnormal blood inorganic cation concentration	1497	CTNS	OMIM:219800
HP:0010927	Abnormal blood inorganic cation concentration	7809	BSND	ORPHA:89938
HP:0010927	Abnormal blood inorganic cation concentration	1188	CLCNKB	ORPHA:89938
HP:0010927	Abnormal blood inorganic cation concentration	1188	CLCNKB	ORPHA:358
HP:0010927	Abnormal blood inorganic cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010927	Abnormal blood inorganic cation concentration	486	FXYD2	OMIM:154020
HP:0010927	Abnormal blood inorganic cation concentration	1621	DBH	OMIM:223360
HP:0010927	Abnormal blood inorganic cation concentration	3766	KCNJ10	OMIM:612780
HP:0010927	Abnormal blood inorganic cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010927	Abnormal blood inorganic cation concentration	476	ATP1A1	ORPHA:564178
HP:0010927	Abnormal blood inorganic cation concentration	476	ATP1A1	OMIM:618314
HP:0010927	Abnormal blood inorganic cation concentration	50943	FOXP3	ORPHA:37042
HP:0010927	Abnormal blood inorganic cation concentration	2767	GNA11	ORPHA:428
HP:0010927	Abnormal blood inorganic cation concentration	846	CASR	ORPHA:428
HP:0010927	Abnormal blood inorganic cation concentration	846	CASR	OMIM:601198
HP:0010927	Abnormal blood inorganic cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	2556	GABRA3	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	779	CACNA1S	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	1950	EGF	OMIM:611718
HP:0010927	Abnormal blood inorganic cation concentration	6557	SLC12A1	OMIM:601678
HP:0010927	Abnormal blood inorganic cation concentration	5442	POLRMT	OMIM:619743
HP:0010927	Abnormal blood inorganic cation concentration	3758	KCNJ1	OMIM:241200
HP:0010927	Abnormal blood inorganic cation concentration	54805	CNNM2	OMIM:613882
HP:0010927	Abnormal blood inorganic cation concentration	54805	CNNM2	OMIM:616418
HP:0010927	Abnormal blood inorganic cation concentration	149461	CLDN19	OMIM:248190
HP:0010927	Abnormal blood inorganic cation concentration	10686	CLDN16	OMIM:248250
HP:0010927	Abnormal blood inorganic cation concentration	6559	SLC12A3	OMIM:263800
HP:0010927	Abnormal blood inorganic cation concentration	6559	SLC12A3	ORPHA:358
HP:0010927	Abnormal blood inorganic cation concentration	2783	GNB2	OMIM:619503
HP:0010927	Abnormal blood inorganic cation concentration	54938	SARS2	OMIM:613845
HP:0010927	Abnormal blood inorganic cation concentration	7074	TIAM1	OMIM:619908
HP:0010927	Abnormal blood inorganic cation concentration	5092	PCBD1	ORPHA:1578
HP:0010927	Abnormal blood inorganic cation concentration	58528	RRAGD	OMIM:620152
HP:0010927	Abnormal blood inorganic cation concentration	1175	AP2S1	OMIM:600740
HP:0010927	Abnormal blood inorganic cation concentration	9071	CLDN10	OMIM:617671
HP:0010927	Abnormal blood inorganic cation concentration	229	ALDOB	ORPHA:469
HP:0010927	Abnormal blood inorganic cation concentration	3939	LDHA	ORPHA:284426
HP:0010927	Abnormal blood inorganic cation concentration	595	CCND1	ORPHA:29073
HP:0010927	Abnormal blood inorganic cation concentration	51604	PIGT	ORPHA:369837
HP:0010927	Abnormal blood inorganic cation concentration	6569	SLC34A1	OMIM:616963
HP:0010927	Abnormal blood inorganic cation concentration	55654	TMEM127	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	55654	TMEM127	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	6390	SDHB	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	6390	SDHB	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6390	SDHB	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	6392	SDHD	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	6392	SDHD	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6392	SDHD	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	4149	MAX	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	4149	MAX	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	1743	DLST	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	4191	MDH2	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6389	SDHA	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	23095	KIF1B	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	2271	FH	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	8402	SLC25A11	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	54949	SDHAF2	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	4763	NF1	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6391	SDHC	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6804	STX1A	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	7461	CLIP2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	84277	DNAJC30	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	8468	FKBP6	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	5982	RFC2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2969	GTF2I	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	3984	LIMK1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	9569	GTF2IRD1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	155382	VPS37D	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	155368	METTL27	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	114049	BUD23	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	7458	EIF4H	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	84163	GTF2IRD2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	9275	BCL7B	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	26608	TBL2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	653361	NCF1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	135886	TMEM270	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	51085	MLXIPL	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	51085	MLXIPL	OMIM:194050
HP:0010927	Abnormal blood inorganic cation concentration	9031	BAZ1B	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2006	ELN	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2006	ELN	OMIM:194050
HP:0010927	Abnormal blood inorganic cation concentration	64324	NSD1	ORPHA:821
HP:0010927	Abnormal blood inorganic cation concentration	29072	SETD2	ORPHA:821
HP:0010927	Abnormal blood inorganic cation concentration	10297	APC2	ORPHA:821
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:143
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:145000
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:145001
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:99880
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:99879
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:608266
HP:0010927	Abnormal blood inorganic cation concentration	249	ALPL	OMIM:241500
HP:0010927	Abnormal blood inorganic cation concentration	7204	TRIO	ORPHA:476126
HP:0010927	Abnormal blood inorganic cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	OMIM:131100
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	ORPHA:99879
HP:0010927	Abnormal blood inorganic cation concentration	1027	CDKN1B	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1027	CDKN1B	ORPHA:276152
HP:0010927	Abnormal blood inorganic cation concentration	1026	CDKN1A	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1030	CDKN2B	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1031	CDKN2C	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	4854	NOTCH3	ORPHA:2591
HP:0010927	Abnormal blood inorganic cation concentration	5745	PTH1R	OMIM:156400
HP:0010927	Abnormal blood inorganic cation concentration	9365	KL	OMIM:617994
HP:0010927	Abnormal blood inorganic cation concentration	2591	GALNT3	OMIM:211900
HP:0010927	Abnormal blood inorganic cation concentration	1788	DNMT3A	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	2034	EPAS1	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	1591	CYP24A1	OMIM:143880
HP:0010927	Abnormal blood inorganic cation concentration	1028	CDKN1C	OMIM:614732
HP:0010927	Abnormal blood inorganic cation concentration	56244	BTNL2	ORPHA:797
HP:0010927	Abnormal blood inorganic cation concentration	3123	HLA-DRB1	ORPHA:797
HP:0010927	Abnormal blood inorganic cation concentration	1758	DMP1	ORPHA:289176
HP:0010927	Abnormal blood inorganic cation concentration	5167	ENPP1	ORPHA:289176
HP:0010927	Abnormal blood inorganic cation concentration	5251	PHEX	OMIM:307800
HP:0010927	Abnormal blood inorganic cation concentration	6575	SLC20A2	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	5155	PDGFB	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	5159	PDGFRB	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	55811	ADCY10	ORPHA:2197
HP:0010927	Abnormal blood inorganic cation concentration	79879	CCDC134	OMIM:619795
HP:0010927	Abnormal blood inorganic cation concentration	10568	SLC34A2	ORPHA:60025
HP:0010927	Abnormal blood inorganic cation concentration	142680	SLC34A3	OMIM:241530
HP:0010927	Abnormal blood inorganic cation concentration	55532	SLC30A10	OMIM:613280
HP:0010927	Abnormal blood inorganic cation concentration	23516	SLC39A14	ORPHA:521406
HP:0010927	Abnormal blood inorganic cation concentration	23516	SLC39A14	OMIM:617013
HP:0010927	Abnormal blood inorganic cation concentration	64116	SLC39A8	ORPHA:468699
HP:0000710	Hyperorality	4137	MAPT	OMIM:600274
HP:0000710	Hyperorality	4137	MAPT	ORPHA:275864
HP:0000710	Hyperorality	4137	MAPT	OMIM:172700
HP:0000710	Hyperorality	5663	PSEN1	OMIM:600274
HP:0000710	Hyperorality	5663	PSEN1	ORPHA:275864
HP:0000710	Hyperorality	5663	PSEN1	OMIM:172700
HP:0000710	Hyperorality	25978	CHMP2B	ORPHA:275864
HP:0000710	Hyperorality	25978	CHMP2B	OMIM:600795
HP:0000710	Hyperorality	2896	GRN	ORPHA:275864
HP:0000710	Hyperorality	2896	GRN	OMIM:607485
HP:0000710	Hyperorality	54664	TMEM106B	ORPHA:275864
HP:0000710	Hyperorality	8878	SQSTM1	ORPHA:275864
HP:0000710	Hyperorality	54209	TREM2	ORPHA:275864
HP:0000710	Hyperorality	7415	VCP	ORPHA:275864
HP:0000710	Hyperorality	5621	PRNP	OMIM:606688
HP:0000710	Hyperorality	6638	SNRPN	ORPHA:411515
HP:0000710	Hyperorality	7337	UBE3A	ORPHA:411515
HP:0000710	Hyperorality	57194	ATP10A	ORPHA:411515
HP:0000710	Hyperorality	85358	SHANK3	OMIM:606232
HP:0000710	Hyperorality	54675	CRLS1	OMIM:620167
HP:0000710	Hyperorality	1639	DCTN1	OMIM:168605
HP:0000711	Restlessness	25978	CHMP2B	OMIM:600795
HP:0000711	Restlessness	25978	CHMP2B	ORPHA:275864
HP:0000711	Restlessness	25978	CHMP2B	ORPHA:100070
HP:0000711	Restlessness	4204	MECP2	OMIM:300055
HP:0000711	Restlessness	55768	NGLY1	OMIM:615273
HP:0000711	Restlessness	1499	CTNNB1	OMIM:615075
HP:0000711	Restlessness	8242	KDM5C	OMIM:300534
HP:0000711	Restlessness	210	ALAD	ORPHA:100924
HP:0000711	Restlessness	3028	HSD17B10	OMIM:300438
HP:0000711	Restlessness	3028	HSD17B10	ORPHA:391428
HP:0000711	Restlessness	5063	PAK3	OMIM:300558
HP:0000711	Restlessness	27089	UQCRQ	OMIM:615159
HP:0000711	Restlessness	1182	CLCN3	OMIM:619517
HP:0000711	Restlessness	10059	DNM1L	OMIM:614388
HP:0000711	Restlessness	23314	SATB2	ORPHA:251028
HP:0000711	Restlessness	23314	SATB2	OMIM:612313
HP:0000711	Restlessness	10165	SLC25A13	ORPHA:247585
HP:0000711	Restlessness	2055	CLN8	OMIM:610003
HP:0000711	Restlessness	283989	TSEN54	OMIM:277470
HP:0000711	Restlessness	23389	MED13L	ORPHA:369891
HP:0000711	Restlessness	501	ALDH7A1	ORPHA:3006
HP:0000711	Restlessness	11212	PLPBP	ORPHA:3006
HP:0000711	Restlessness	2731	GLDC	OMIM:605899
HP:0000711	Restlessness	275	AMT	OMIM:605899
HP:0000711	Restlessness	5805	PTS	ORPHA:13
HP:0000711	Restlessness	5621	PRNP	OMIM:603218
HP:0000711	Restlessness	5621	PRNP	ORPHA:157941
HP:0000711	Restlessness	26137	ZBTB20	OMIM:259050
HP:0000711	Restlessness	80704	SLC19A3	ORPHA:263410
HP:0000711	Restlessness	128240	NAXE	OMIM:617186
HP:0000711	Restlessness	11342	RNF13	OMIM:618379
HP:0000711	Restlessness	11342	RNF13	ORPHA:544503
HP:0000711	Restlessness	5663	PSEN1	ORPHA:275864
HP:0000711	Restlessness	5663	PSEN1	ORPHA:100070
HP:0000711	Restlessness	2896	GRN	ORPHA:275864
HP:0000711	Restlessness	2896	GRN	ORPHA:100070
HP:0000711	Restlessness	54664	TMEM106B	ORPHA:275864
HP:0000711	Restlessness	54664	TMEM106B	ORPHA:100070
HP:0000711	Restlessness	8878	SQSTM1	ORPHA:275864
HP:0000711	Restlessness	4137	MAPT	ORPHA:275864
HP:0000711	Restlessness	4137	MAPT	ORPHA:100070
HP:0000711	Restlessness	54209	TREM2	ORPHA:275864
HP:0000711	Restlessness	54209	TREM2	ORPHA:100070
HP:0000711	Restlessness	7415	VCP	ORPHA:275864
HP:0000711	Restlessness	7415	VCP	ORPHA:100070
HP:0000711	Restlessness	10847	SRCAP	ORPHA:2044
HP:0000711	Restlessness	3145	HMBS	ORPHA:79276
HP:0000711	Restlessness	3242	HPD	OMIM:140350
HP:0000711	Restlessness	2799	GNS	OMIM:252940
HP:0000711	Restlessness	3064	HTT	ORPHA:399
HP:0000711	Restlessness	3064	HTT	OMIM:617435
HP:0000711	Restlessness	6515	SLC2A3	ORPHA:399
HP:0000711	Restlessness	10522	DEAF1	OMIM:617171
HP:0000711	Restlessness	10522	DEAF1	ORPHA:468620
HP:0000711	Restlessness	8367	H4C5	OMIM:619950
HP:0000711	Restlessness	6711	SPTBN1	OMIM:619475
HP:0000711	Restlessness	1593	CYP27A1	ORPHA:909
HP:0000711	Restlessness	2778	GNAS	OMIM:219080
HP:0000711	Restlessness	7253	TSHR	ORPHA:99819
HP:0000711	Restlessness	7253	TSHR	ORPHA:424
HP:0000711	Restlessness	2334	AFF2	ORPHA:100973
HP:0000711	Restlessness	2334	AFF2	OMIM:309548
HP:0000711	Restlessness	6792	CDKL5	ORPHA:3095
HP:0000711	Restlessness	22854	NTNG1	ORPHA:3095
HP:0000711	Restlessness	9568	GABBR2	ORPHA:3095
HP:0000711	Restlessness	9568	GABBR2	OMIM:617903
HP:0000711	Restlessness	8243	SMC1A	ORPHA:3095
HP:0000711	Restlessness	1352	COX10	OMIM:619046
HP:0000711	Restlessness	51816	ADA2	OMIM:615688
HP:0000711	Restlessness	51473	DCDC2	ORPHA:84081
HP:0000711	Restlessness	91147	TMEM67	ORPHA:84081
HP:0000711	Restlessness	50940	PDE11A	OMIM:610475
HP:0000711	Restlessness	6833	ABCC8	ORPHA:276575
HP:0000711	Restlessness	38	ACAT1	ORPHA:134
HP:0000711	Restlessness	3767	KCNJ11	ORPHA:276580
HP:0000711	Restlessness	4047	LSS	OMIM:618840
HP:0000711	Restlessness	111	ADCY5	OMIM:619651
HP:0000711	Restlessness	535	ATP6V0A1	OMIM:619970
HP:0000711	Restlessness	1889	ECE1	OMIM:613870
HP:0000711	Restlessness	162417	NAGS	ORPHA:927
HP:0000711	Restlessness	2629	GBA1	ORPHA:411602
HP:0000711	Restlessness	23317	DNAJC13	ORPHA:411602
HP:0000711	Restlessness	1981	EIF4G1	ORPHA:411602
HP:0000711	Restlessness	55737	VPS35	ORPHA:411602
HP:0000711	Restlessness	120892	LRRK2	ORPHA:411602
HP:0000711	Restlessness	120892	LRRK2	ORPHA:2828
HP:0000711	Restlessness	26058	GIGYF2	ORPHA:411602
HP:0000711	Restlessness	6622	SNCA	ORPHA:411602
HP:0000711	Restlessness	6622	SNCA	ORPHA:2828
HP:0000711	Restlessness	1968	EIF2S3	ORPHA:85282
HP:0000711	Restlessness	5664	PSEN2	ORPHA:1020
HP:0000711	Restlessness	10452	TOMM40	ORPHA:1020
HP:0000711	Restlessness	351	APP	ORPHA:1020
HP:0000711	Restlessness	10347	ABCA7	ORPHA:1020
HP:0000711	Restlessness	6653	SORL1	ORPHA:1020
HP:0000711	Restlessness	5573	PRKAR1A	OMIM:610489
HP:0000711	Restlessness	51322	WAC	OMIM:616708
HP:0000711	Restlessness	6683	SPAST	OMIM:182601
HP:0000711	Restlessness	3178	HNRNPA1	ORPHA:803
HP:0000711	Restlessness	8148	TAF15	ORPHA:803
HP:0000711	Restlessness	5445	PON2	ORPHA:803
HP:0000711	Restlessness	9217	VAPB	ORPHA:803
HP:0000711	Restlessness	5630	PRPH	ORPHA:803
HP:0000711	Restlessness	29110	TBK1	ORPHA:803
HP:0000711	Restlessness	55830	GLT8D1	ORPHA:803
HP:0000711	Restlessness	755	CFAP410	ORPHA:803
HP:0000711	Restlessness	10891	PPARGC1A	ORPHA:803
HP:0000711	Restlessness	6647	SOD1	ORPHA:803
HP:0000711	Restlessness	10133	OPTN	ORPHA:803
HP:0000711	Restlessness	1639	DCTN1	ORPHA:803
HP:0000711	Restlessness	9896	FIG4	ORPHA:803
HP:0000711	Restlessness	5444	PON1	ORPHA:803
HP:0000711	Restlessness	5446	PON3	ORPHA:803
HP:0000711	Restlessness	4744	NEFH	ORPHA:803
HP:0000711	Restlessness	5216	PFN1	ORPHA:803
HP:0000711	Restlessness	9782	MATR3	ORPHA:803
HP:0000711	Restlessness	283	ANG	ORPHA:803
HP:0000711	Restlessness	23435	TARDBP	ORPHA:803
HP:0000711	Restlessness	29978	UBQLN2	ORPHA:803
HP:0000711	Restlessness	2733	GLE1	ORPHA:803
HP:0000711	Restlessness	2521	FUS	ORPHA:803
HP:0000711	Restlessness	4750	NEK1	ORPHA:803
HP:0000711	Restlessness	2043	EPHA4	ORPHA:803
HP:0000711	Restlessness	6311	ATXN2	ORPHA:803
HP:0000711	Restlessness	1610	DAO	ORPHA:803
HP:0000711	Restlessness	2066	ERBB4	ORPHA:803
HP:0000711	Restlessness	311	ANXA11	ORPHA:803
HP:0000711	Restlessness	23025	UNC13A	ORPHA:803
HP:0000711	Restlessness	899	CCNF	ORPHA:803
HP:0000711	Restlessness	400916	CHCHD10	ORPHA:803
HP:0000711	Restlessness	6821	SUOX	OMIM:272300
HP:0000711	Restlessness	3172	HNF4A	ORPHA:263455
HP:0000711	Restlessness	6927	HNF1A	ORPHA:324575
HP:0000711	Restlessness	3832	KIF11	OMIM:152950
HP:0000711	Restlessness	221927	BRAT1	OMIM:618056
HP:0000711	Restlessness	2257	FGF12	OMIM:617166
HP:0000711	Restlessness	1641	DCX	ORPHA:2148
HP:0000711	Restlessness	3340	NDST1	OMIM:616116
HP:0000711	Restlessness	7351	UCP2	ORPHA:276556
HP:0000711	Restlessness	6304	SATB1	OMIM:619229
HP:0000711	Restlessness	54832	VPS13C	ORPHA:2828
HP:0000711	Restlessness	11315	PARK7	ORPHA:2828
HP:0000711	Restlessness	7345	UCHL1	ORPHA:2828
HP:0000711	Restlessness	27429	HTRA2	ORPHA:2828
HP:0000711	Restlessness	9829	DNAJC6	ORPHA:2828
HP:0000711	Restlessness	5420	PODXL	ORPHA:2828
HP:0000711	Restlessness	65018	PINK1	ORPHA:2828
HP:0000711	Restlessness	8867	SYNJ1	ORPHA:2828
HP:0000711	Restlessness	5071	PRKN	ORPHA:2828
HP:0000711	Restlessness	2744	GLS	OMIM:618339
HP:0000711	Restlessness	3480	IGF1R	OMIM:270450
HP:0000711	Restlessness	773	CACNA1A	OMIM:141500
HP:0000713	Agitation	3064	HTT	ORPHA:399
HP:0000713	Agitation	3064	HTT	OMIM:617435
HP:0000713	Agitation	6515	SLC2A3	ORPHA:399
HP:0000713	Agitation	10522	DEAF1	OMIM:617171
HP:0000713	Agitation	10522	DEAF1	ORPHA:468620
HP:0000713	Agitation	8367	H4C5	OMIM:619950
HP:0000713	Agitation	3028	HSD17B10	OMIM:300438
HP:0000713	Agitation	5063	PAK3	OMIM:300558
HP:0000713	Agitation	6711	SPTBN1	OMIM:619475
HP:0000713	Agitation	1593	CYP27A1	ORPHA:909
HP:0000713	Agitation	2778	GNAS	OMIM:219080
HP:0000713	Agitation	7253	TSHR	ORPHA:99819
HP:0000713	Agitation	7253	TSHR	ORPHA:424
HP:0000713	Agitation	2896	GRN	OMIM:607485
HP:0000713	Agitation	2334	AFF2	ORPHA:100973
HP:0000713	Agitation	2334	AFF2	OMIM:309548
HP:0000713	Agitation	6792	CDKL5	ORPHA:3095
HP:0000713	Agitation	22854	NTNG1	ORPHA:3095
HP:0000713	Agitation	9568	GABBR2	ORPHA:3095
HP:0000713	Agitation	9568	GABBR2	OMIM:617903
HP:0000713	Agitation	4204	MECP2	ORPHA:3095
HP:0000713	Agitation	4204	MECP2	ORPHA:778
HP:0000713	Agitation	8243	SMC1A	ORPHA:3095
HP:0000713	Agitation	1352	COX10	OMIM:619046
HP:0000713	Agitation	51816	ADA2	OMIM:615688
HP:0000713	Agitation	51473	DCDC2	ORPHA:84081
HP:0000713	Agitation	91147	TMEM67	ORPHA:84081
HP:0000713	Agitation	50940	PDE11A	OMIM:610475
HP:0000713	Agitation	6833	ABCC8	ORPHA:276575
HP:0000713	Agitation	2799	GNS	OMIM:252940
HP:0000713	Agitation	38	ACAT1	ORPHA:134
HP:0000713	Agitation	3767	KCNJ11	ORPHA:276580
HP:0000713	Agitation	210	ALAD	ORPHA:100924
HP:0000713	Agitation	4047	LSS	OMIM:618840
HP:0000713	Agitation	111	ADCY5	OMIM:619651
HP:0000713	Agitation	535	ATP6V0A1	OMIM:619970
HP:0000713	Agitation	1889	ECE1	OMIM:613870
HP:0000713	Agitation	162417	NAGS	ORPHA:927
HP:0000713	Agitation	2629	GBA1	ORPHA:411602
HP:0000713	Agitation	23317	DNAJC13	ORPHA:411602
HP:0000713	Agitation	1981	EIF4G1	ORPHA:411602
HP:0000713	Agitation	55737	VPS35	ORPHA:411602
HP:0000713	Agitation	120892	LRRK2	ORPHA:411602
HP:0000713	Agitation	120892	LRRK2	ORPHA:2828
HP:0000713	Agitation	26058	GIGYF2	ORPHA:411602
HP:0000713	Agitation	6622	SNCA	ORPHA:411602
HP:0000713	Agitation	6622	SNCA	ORPHA:2828
HP:0000713	Agitation	1968	EIF2S3	ORPHA:85282
HP:0000713	Agitation	5663	PSEN1	ORPHA:1020
HP:0000713	Agitation	5664	PSEN2	ORPHA:1020
HP:0000713	Agitation	10452	TOMM40	ORPHA:1020
HP:0000713	Agitation	351	APP	ORPHA:1020
HP:0000713	Agitation	54209	TREM2	ORPHA:1020
HP:0000713	Agitation	54209	TREM2	ORPHA:803
HP:0000713	Agitation	10347	ABCA7	ORPHA:1020
HP:0000713	Agitation	6653	SORL1	ORPHA:1020
HP:0000713	Agitation	5573	PRKAR1A	OMIM:610489
HP:0000713	Agitation	51322	WAC	OMIM:616708
HP:0000713	Agitation	6683	SPAST	OMIM:182601
HP:0000713	Agitation	25978	CHMP2B	ORPHA:803
HP:0000713	Agitation	3178	HNRNPA1	ORPHA:803
HP:0000713	Agitation	8148	TAF15	ORPHA:803
HP:0000713	Agitation	5445	PON2	ORPHA:803
HP:0000713	Agitation	9217	VAPB	ORPHA:803
HP:0000713	Agitation	8878	SQSTM1	ORPHA:803
HP:0000713	Agitation	5630	PRPH	ORPHA:803
HP:0000713	Agitation	29110	TBK1	ORPHA:803
HP:0000713	Agitation	55830	GLT8D1	ORPHA:803
HP:0000713	Agitation	755	CFAP410	ORPHA:803
HP:0000713	Agitation	10891	PPARGC1A	ORPHA:803
HP:0000713	Agitation	6647	SOD1	ORPHA:803
HP:0000713	Agitation	10133	OPTN	ORPHA:803
HP:0000713	Agitation	1639	DCTN1	ORPHA:803
HP:0000713	Agitation	9896	FIG4	ORPHA:803
HP:0000713	Agitation	5444	PON1	ORPHA:803
HP:0000713	Agitation	5446	PON3	ORPHA:803
HP:0000713	Agitation	4744	NEFH	ORPHA:803
HP:0000713	Agitation	5216	PFN1	ORPHA:803
HP:0000713	Agitation	9782	MATR3	ORPHA:803
HP:0000713	Agitation	7415	VCP	ORPHA:803
HP:0000713	Agitation	283	ANG	ORPHA:803
HP:0000713	Agitation	23435	TARDBP	ORPHA:803
HP:0000713	Agitation	29978	UBQLN2	ORPHA:803
HP:0000713	Agitation	2733	GLE1	ORPHA:803
HP:0000713	Agitation	2521	FUS	ORPHA:803
HP:0000713	Agitation	4750	NEK1	ORPHA:803
HP:0000713	Agitation	2043	EPHA4	ORPHA:803
HP:0000713	Agitation	6311	ATXN2	ORPHA:803
HP:0000713	Agitation	1610	DAO	ORPHA:803
HP:0000713	Agitation	2066	ERBB4	ORPHA:803
HP:0000713	Agitation	311	ANXA11	ORPHA:803
HP:0000713	Agitation	23025	UNC13A	ORPHA:803
HP:0000713	Agitation	899	CCNF	ORPHA:803
HP:0000713	Agitation	400916	CHCHD10	ORPHA:803
HP:0000713	Agitation	23389	MED13L	ORPHA:369891
HP:0000713	Agitation	6821	SUOX	OMIM:272300
HP:0000713	Agitation	5805	PTS	ORPHA:13
HP:0000713	Agitation	3172	HNF4A	ORPHA:263455
HP:0000713	Agitation	6927	HNF1A	ORPHA:324575
HP:0000713	Agitation	3832	KIF11	OMIM:152950
HP:0000713	Agitation	221927	BRAT1	OMIM:618056
HP:0000713	Agitation	2257	FGF12	OMIM:617166
HP:0000713	Agitation	1641	DCX	ORPHA:2148
HP:0000713	Agitation	3340	NDST1	OMIM:616116
HP:0000713	Agitation	7351	UCP2	ORPHA:276556
HP:0000713	Agitation	6304	SATB1	OMIM:619229
HP:0000713	Agitation	54832	VPS13C	ORPHA:2828
HP:0000713	Agitation	11315	PARK7	ORPHA:2828
HP:0000713	Agitation	7345	UCHL1	ORPHA:2828
HP:0000713	Agitation	27429	HTRA2	ORPHA:2828
HP:0000713	Agitation	9829	DNAJC6	ORPHA:2828
HP:0000713	Agitation	5420	PODXL	ORPHA:2828
HP:0000713	Agitation	65018	PINK1	ORPHA:2828
HP:0000713	Agitation	8867	SYNJ1	ORPHA:2828
HP:0000713	Agitation	5071	PRKN	ORPHA:2828
HP:0000713	Agitation	2744	GLS	OMIM:618339
HP:0000713	Agitation	3480	IGF1R	OMIM:270450
HP:0000713	Agitation	773	CACNA1A	OMIM:141500
HP:0000716	Depression	26191	PTPN22	ORPHA:397
HP:0000716	Depression	3106	HLA-B	ORPHA:397
HP:0000716	Depression	3123	HLA-DRB1	ORPHA:397
HP:0000716	Depression	3123	HLA-DRB1	OMIM:126200
HP:0000716	Depression	8974	P4HA2	ORPHA:397
HP:0000716	Depression	5621	PRNP	ORPHA:282166
HP:0000716	Depression	5621	PRNP	OMIM:603218
HP:0000716	Depression	5621	PRNP	ORPHA:157941
HP:0000716	Depression	5621	PRNP	ORPHA:280397
HP:0000716	Depression	5621	PRNP	OMIM:123400
HP:0000716	Depression	5621	PRNP	OMIM:137440
HP:0000716	Depression	3064	HTT	ORPHA:399
HP:0000716	Depression	3064	HTT	ORPHA:248111
HP:0000716	Depression	3064	HTT	OMIM:143100
HP:0000716	Depression	6515	SLC2A3	ORPHA:399
HP:0000716	Depression	6513	SLC2A1	ORPHA:64280
HP:0000716	Depression	2562	GABRB3	ORPHA:64280
HP:0000716	Depression	2554	GABRA1	ORPHA:64280
HP:0000716	Depression	8912	CACNA1H	ORPHA:64280
HP:0000716	Depression	8629	JRK	ORPHA:64280
HP:0000716	Depression	2566	GABRG2	ORPHA:64280
HP:0000716	Depression	2566	GABRG2	ORPHA:1945
HP:0000716	Depression	7384	UQCRC1	OMIM:619279
HP:0000716	Depression	51256	TBC1D7	OMIM:248000
HP:0000716	Depression	1183	CLCN4	OMIM:300114
HP:0000716	Depression	1183	CLCN4	ORPHA:485350
HP:0000716	Depression	1786	DNMT1	ORPHA:314404
HP:0000716	Depression	1786	DNMT1	OMIM:604121
HP:0000716	Depression	2521	FUS	ORPHA:275872
HP:0000716	Depression	2521	FUS	ORPHA:803
HP:0000716	Depression	8878	SQSTM1	ORPHA:275872
HP:0000716	Depression	8878	SQSTM1	ORPHA:803
HP:0000716	Depression	7415	VCP	ORPHA:275872
HP:0000716	Depression	7415	VCP	ORPHA:329478
HP:0000716	Depression	7415	VCP	ORPHA:803
HP:0000716	Depression	7415	VCP	ORPHA:100070
HP:0000716	Depression	7415	VCP	OMIM:613954
HP:0000716	Depression	23435	TARDBP	ORPHA:275872
HP:0000716	Depression	23435	TARDBP	ORPHA:803
HP:0000716	Depression	29110	TBK1	ORPHA:275872
HP:0000716	Depression	29110	TBK1	ORPHA:803
HP:0000716	Depression	400916	CHCHD10	ORPHA:275872
HP:0000716	Depression	400916	CHCHD10	ORPHA:803
HP:0000716	Depression	478	ATP1A3	OMIM:128235
HP:0000716	Depression	478	ATP1A3	ORPHA:71517
HP:0000716	Depression	5521	PPP2R2B	OMIM:604326
HP:0000716	Depression	4072	EPCAM	ORPHA:144
HP:0000716	Depression	4292	MLH1	ORPHA:144
HP:0000716	Depression	5395	PMS2	ORPHA:144
HP:0000716	Depression	27030	MLH3	ORPHA:144
HP:0000716	Depression	22909	FAN1	ORPHA:144
HP:0000716	Depression	7048	TGFBR2	ORPHA:144
HP:0000716	Depression	3845	KRAS	ORPHA:144
HP:0000716	Depression	5290	PIK3CA	ORPHA:144
HP:0000716	Depression	2956	MSH6	ORPHA:144
HP:0000716	Depression	5378	PMS1	ORPHA:144
HP:0000716	Depression	4436	MSH2	ORPHA:144
HP:0000716	Depression	4125	MAN2B1	ORPHA:309282
HP:0000716	Depression	4125	MAN2B1	ORPHA:309288
HP:0000716	Depression	4312	MMP1	ORPHA:79408
HP:0000716	Depression	1294	COL7A1	ORPHA:79408
HP:0000716	Depression	1294	COL7A1	ORPHA:89842
HP:0000716	Depression	1639	DCTN1	ORPHA:178509
HP:0000716	Depression	1639	DCTN1	ORPHA:803
HP:0000716	Depression	1639	DCTN1	OMIM:168605
HP:0000716	Depression	387119	CEP85L	OMIM:618873
HP:0000716	Depression	613	BCR	ORPHA:261330
HP:0000716	Depression	1399	CRKL	ORPHA:261330
HP:0000716	Depression	5594	MAPK1	ORPHA:261330
HP:0000716	Depression	5155	PDGFB	OMIM:615483
HP:0000716	Depression	5155	PDGFB	OMIM:213600
HP:0000716	Depression	8722	CTSF	OMIM:615362
HP:0000716	Depression	57582	KCNT1	OMIM:615005
HP:0000716	Depression	57582	KCNT1	ORPHA:98784
HP:0000716	Depression	64218	SEMA4A	ORPHA:440437
HP:0000716	Depression	657	BMPR1A	ORPHA:440437
HP:0000716	Depression	6224	RPS20	ORPHA:440437
HP:0000716	Depression	4137	MAPT	ORPHA:240085
HP:0000716	Depression	4137	MAPT	ORPHA:100070
HP:0000716	Depression	4137	MAPT	OMIM:168600
HP:0000716	Depression	54982	CLN6	OMIM:204300
HP:0000716	Depression	50940	PDE11A	OMIM:610475
HP:0000716	Depression	50940	PDE11A	ORPHA:189439
HP:0000716	Depression	23600	AMACR	ORPHA:79095
HP:0000716	Depression	23600	AMACR	OMIM:614307
HP:0000716	Depression	1763	DNA2	ORPHA:352470
HP:0000716	Depression	1763	DNA2	OMIM:615156
HP:0000716	Depression	5159	PDGFRB	OMIM:615007
HP:0000716	Depression	5159	PDGFRB	OMIM:213600
HP:0000716	Depression	5159	PDGFRB	OMIM:616592
HP:0000716	Depression	23400	ATP13A2	ORPHA:314632
HP:0000716	Depression	7252	TSHB	ORPHA:90674
HP:0000716	Depression	410	ARSA	ORPHA:309271
HP:0000716	Depression	5660	PSAP	ORPHA:309271
HP:0000716	Depression	5660	PSAP	OMIM:619491
HP:0000716	Depression	2859	GPR35	ORPHA:171
HP:0000716	Depression	10507	SEMA4D	ORPHA:171
HP:0000716	Depression	4485	MST1	ORPHA:171
HP:0000716	Depression	6925	TCF4	ORPHA:171
HP:0000716	Depression	55154	MSTO1	OMIM:617675
HP:0000716	Depression	55154	MSTO1	ORPHA:502423
HP:0000716	Depression	50484	RRM2B	OMIM:613077
HP:0000716	Depression	50484	RRM2B	ORPHA:254892
HP:0000716	Depression	1716	DGUOK	ORPHA:329314
HP:0000716	Depression	10352	WARS2	OMIM:619738
HP:0000716	Depression	6575	SLC20A2	OMIM:213600
HP:0000716	Depression	5573	PRKAR1A	OMIM:610489
HP:0000716	Depression	5573	PRKAR1A	ORPHA:189439
HP:0000716	Depression	3117	HLA-DQA1	OMIM:212750
HP:0000716	Depression	3119	HLA-DQB1	OMIM:212750
HP:0000716	Depression	3119	HLA-DQB1	OMIM:123400
HP:0000716	Depression	3119	HLA-DQB1	OMIM:126200
HP:0000716	Depression	546	ATRX	ORPHA:847
HP:0000716	Depression	546	ATRX	ORPHA:96253
HP:0000716	Depression	83550	GPR101	ORPHA:963
HP:0000716	Depression	9049	AIP	ORPHA:963
HP:0000716	Depression	2332	FMR1	ORPHA:93256
HP:0000716	Depression	2332	FMR1	ORPHA:449291
HP:0000716	Depression	2332	FMR1	OMIM:300623
HP:0000716	Depression	10273	STUB1	OMIM:618093
HP:0000716	Depression	1175	AP2S1	OMIM:600740
HP:0000716	Depression	79152	FA2H	ORPHA:329308
HP:0000716	Depression	83636	C19orf12	OMIM:614298
HP:0000716	Depression	833	CARS1	OMIM:618891
HP:0000716	Depression	6999	TDO2	OMIM:600627
HP:0000716	Depression	7466	WFS1	OMIM:614296
HP:0000716	Depression	7466	WFS1	ORPHA:411590
HP:0000716	Depression	10347	ABCA7	OMIM:608907
HP:0000716	Depression	23230	VPS13A	ORPHA:2388
HP:0000716	Depression	28514	DLL1	ORPHA:93926
HP:0000716	Depression	28514	DLL1	ORPHA:93924
HP:0000716	Depression	28514	DLL1	ORPHA:93925
HP:0000716	Depression	28514	DLL1	ORPHA:220386
HP:0000716	Depression	2253	FGF8	ORPHA:93926
HP:0000716	Depression	2253	FGF8	ORPHA:93924
HP:0000716	Depression	2253	FGF8	ORPHA:93925
HP:0000716	Depression	2253	FGF8	ORPHA:432
HP:0000716	Depression	2253	FGF8	ORPHA:220386
HP:0000716	Depression	6496	SIX3	ORPHA:93926
HP:0000716	Depression	6496	SIX3	ORPHA:93924
HP:0000716	Depression	6496	SIX3	ORPHA:93925
HP:0000716	Depression	6496	SIX3	ORPHA:220386
HP:0000716	Depression	7050	TGIF1	ORPHA:93926
HP:0000716	Depression	7050	TGIF1	ORPHA:93924
HP:0000716	Depression	7050	TGIF1	ORPHA:93925
HP:0000716	Depression	7050	TGIF1	ORPHA:220386
HP:0000716	Depression	4838	NODAL	ORPHA:93926
HP:0000716	Depression	4838	NODAL	ORPHA:93924
HP:0000716	Depression	4838	NODAL	ORPHA:93925
HP:0000716	Depression	4838	NODAL	ORPHA:220386
HP:0000716	Depression	6469	SHH	ORPHA:93926
HP:0000716	Depression	6469	SHH	ORPHA:93924
HP:0000716	Depression	6469	SHH	ORPHA:93925
HP:0000716	Depression	6469	SHH	ORPHA:220386
HP:0000716	Depression	7546	ZIC2	ORPHA:93926
HP:0000716	Depression	7546	ZIC2	ORPHA:93924
HP:0000716	Depression	7546	ZIC2	ORPHA:93925
HP:0000716	Depression	7546	ZIC2	ORPHA:220386
HP:0000716	Depression	6491	STIL	ORPHA:93926
HP:0000716	Depression	6491	STIL	ORPHA:93924
HP:0000716	Depression	6491	STIL	ORPHA:93925
HP:0000716	Depression	6491	STIL	ORPHA:220386
HP:0000716	Depression	2619	GAS1	ORPHA:93926
HP:0000716	Depression	2619	GAS1	ORPHA:93924
HP:0000716	Depression	2619	GAS1	ORPHA:93925
HP:0000716	Depression	2619	GAS1	ORPHA:220386
HP:0000716	Depression	84976	DISP1	ORPHA:93926
HP:0000716	Depression	84976	DISP1	ORPHA:93924
HP:0000716	Depression	84976	DISP1	ORPHA:93925
HP:0000716	Depression	84976	DISP1	ORPHA:220386
HP:0000716	Depression	2736	GLI2	ORPHA:93926
HP:0000716	Depression	2736	GLI2	ORPHA:93924
HP:0000716	Depression	2736	GLI2	ORPHA:93925
HP:0000716	Depression	2736	GLI2	ORPHA:220386
HP:0000716	Depression	8928	FOXH1	ORPHA:93926
HP:0000716	Depression	8928	FOXH1	ORPHA:93924
HP:0000716	Depression	8928	FOXH1	ORPHA:93925
HP:0000716	Depression	8928	FOXH1	ORPHA:220386
HP:0000716	Depression	5727	PTCH1	ORPHA:93926
HP:0000716	Depression	5727	PTCH1	ORPHA:93924
HP:0000716	Depression	5727	PTCH1	ORPHA:93925
HP:0000716	Depression	5727	PTCH1	ORPHA:220386
HP:0000716	Depression	50937	CDON	ORPHA:93926
HP:0000716	Depression	50937	CDON	ORPHA:93924
HP:0000716	Depression	50937	CDON	ORPHA:93925
HP:0000716	Depression	50937	CDON	ORPHA:220386
HP:0000716	Depression	2260	FGFR1	ORPHA:93924
HP:0000716	Depression	2260	FGFR1	ORPHA:432
HP:0000716	Depression	2260	FGFR1	ORPHA:220386
HP:0000716	Depression	23007	PLCH1	ORPHA:93925
HP:0000716	Depression	10735	STAG2	ORPHA:93925
HP:0000716	Depression	10735	STAG2	ORPHA:220386
HP:0000716	Depression	54832	VPS13C	ORPHA:2828
HP:0000716	Depression	11315	PARK7	ORPHA:2828
HP:0000716	Depression	7345	UCHL1	ORPHA:2828
HP:0000716	Depression	27429	HTRA2	ORPHA:2828
HP:0000716	Depression	120892	LRRK2	ORPHA:2828
HP:0000716	Depression	120892	LRRK2	ORPHA:411602
HP:0000716	Depression	9829	DNAJC6	ORPHA:2828
HP:0000716	Depression	6622	SNCA	ORPHA:2828
HP:0000716	Depression	6622	SNCA	ORPHA:411602
HP:0000716	Depression	6622	SNCA	OMIM:168601
HP:0000716	Depression	5420	PODXL	ORPHA:2828
HP:0000716	Depression	65018	PINK1	ORPHA:2828
HP:0000716	Depression	65018	PINK1	OMIM:605909
HP:0000716	Depression	8867	SYNJ1	ORPHA:2828
HP:0000716	Depression	5071	PRKN	ORPHA:2828
HP:0000716	Depression	2903	GRIN2A	ORPHA:98818
HP:0000716	Depression	2903	GRIN2A	ORPHA:1945
HP:0000716	Depression	27235	COQ2	ORPHA:98933
HP:0000716	Depression	27235	COQ2	ORPHA:227510
HP:0000716	Depression	6197	RPS6KA3	ORPHA:276630
HP:0000716	Depression	6908	TBP	OMIM:607136
HP:0000716	Depression	6908	TBP	OMIM:168600
HP:0000716	Depression	2629	GBA1	OMIM:231000
HP:0000716	Depression	2629	GBA1	ORPHA:411602
HP:0000716	Depression	2629	GBA1	OMIM:168600
HP:0000716	Depression	8398	PLA2G6	ORPHA:199351
HP:0000716	Depression	8398	PLA2G6	OMIM:612953
HP:0000716	Depression	84138	SLC7A6OS	OMIM:619191
HP:0000716	Depression	2324	FLT4	OMIM:618780
HP:0000716	Depression	5566	PRKACA	OMIM:615830
HP:0000716	Depression	5566	PRKACA	ORPHA:189439
HP:0000716	Depression	1593	CYP27A1	ORPHA:909
HP:0000716	Depression	54902	TTC19	OMIM:615157
HP:0000716	Depression	8622	PDE8B	ORPHA:189439
HP:0000716	Depression	540	ATP7B	ORPHA:905
HP:0000716	Depression	6804	STX1A	ORPHA:904
HP:0000716	Depression	6804	STX1A	ORPHA:586
HP:0000716	Depression	7461	CLIP2	ORPHA:904
HP:0000716	Depression	84277	DNAJC30	ORPHA:904
HP:0000716	Depression	8468	FKBP6	ORPHA:904
HP:0000716	Depression	5982	RFC2	ORPHA:904
HP:0000716	Depression	2969	GTF2I	ORPHA:904
HP:0000716	Depression	3984	LIMK1	ORPHA:904
HP:0000716	Depression	9569	GTF2IRD1	ORPHA:904
HP:0000716	Depression	155382	VPS37D	ORPHA:904
HP:0000716	Depression	155368	METTL27	ORPHA:904
HP:0000716	Depression	114049	BUD23	ORPHA:904
HP:0000716	Depression	7458	EIF4H	ORPHA:904
HP:0000716	Depression	84163	GTF2IRD2	ORPHA:904
HP:0000716	Depression	9275	BCL7B	ORPHA:904
HP:0000716	Depression	26608	TBL2	ORPHA:904
HP:0000716	Depression	653361	NCF1	ORPHA:904
HP:0000716	Depression	135886	TMEM270	ORPHA:904
HP:0000716	Depression	51085	MLXIPL	ORPHA:904
HP:0000716	Depression	9031	BAZ1B	ORPHA:904
HP:0000716	Depression	2006	ELN	ORPHA:904
HP:0000716	Depression	79798	ARMC5	OMIM:615954
HP:0000716	Depression	79798	ARMC5	ORPHA:189427
HP:0000716	Depression	8659	ALDH4A1	ORPHA:79101
HP:0000716	Depression	2259	FGF14	ORPHA:98764
HP:0000716	Depression	2259	FGF14	OMIM:193003
HP:0000716	Depression	80025	PANK2	OMIM:234200
HP:0000716	Depression	80025	PANK2	ORPHA:216873
HP:0000716	Depression	724066	ATXN8	ORPHA:98760
HP:0000716	Depression	6315	ATXN8OS	ORPHA:98760
HP:0000716	Depression	6315	ATXN8OS	OMIM:168600
HP:0000716	Depression	25814	ATXN10	ORPHA:98761
HP:0000716	Depression	25814	ATXN10	OMIM:603516
HP:0000716	Depression	2947	GSTM3	ORPHA:586
HP:0000716	Depression	7040	TGFB1	ORPHA:586
HP:0000716	Depression	2729	GCLC	ORPHA:586
HP:0000716	Depression	1084	CEACAM3	ORPHA:586
HP:0000716	Depression	6556	SLC11A1	ORPHA:586
HP:0000716	Depression	51164	DCTN4	ORPHA:586
HP:0000716	Depression	3783	KCNN4	ORPHA:586
HP:0000716	Depression	4282	MIF	ORPHA:586
HP:0000716	Depression	1909	EDNRA	ORPHA:586
HP:0000716	Depression	6550	SLC9A3	ORPHA:586
HP:0000716	Depression	3162	HMOX1	ORPHA:586
HP:0000716	Depression	115019	SLC26A9	ORPHA:586
HP:0000716	Depression	3077	HFE	ORPHA:586
HP:0000716	Depression	11254	SLC6A14	ORPHA:586
HP:0000716	Depression	5265	SERPINA1	ORPHA:586
HP:0000716	Depression	1080	CFTR	ORPHA:586
HP:0000716	Depression	22802	CLCA4	ORPHA:586
HP:0000716	Depression	4680	CEACAM6	ORPHA:586
HP:0000716	Depression	2934	GSN	ORPHA:85448
HP:0000716	Depression	5205	ATP8B1	ORPHA:69665
HP:0000716	Depression	8647	ABCB11	ORPHA:69665
HP:0000716	Depression	5244	ABCB4	ORPHA:69665
HP:0000716	Depression	9971	NR1H4	ORPHA:69665
HP:0000716	Depression	2778	GNAS	ORPHA:189427
HP:0000716	Depression	2778	GNAS	ORPHA:79443
HP:0000716	Depression	2778	GNAS	ORPHA:79444
HP:0000716	Depression	2778	GNAS	OMIM:219080
HP:0000716	Depression	2778	GNAS	ORPHA:94089
HP:0000716	Depression	200424	TET3	OMIM:618798
HP:0000716	Depression	3662	IRF4	ORPHA:3452
HP:0000716	Depression	4854	NOTCH3	ORPHA:136
HP:0000716	Depression	1436	CSF1R	OMIM:221820
HP:0000716	Depression	5354	PLP1	OMIM:312080
HP:0000716	Depression	3458	IFNG	ORPHA:805
HP:0000716	Depression	7248	TSC1	ORPHA:805
HP:0000716	Depression	7249	TSC2	ORPHA:805
HP:0000716	Depression	6683	SPAST	OMIM:182601
HP:0000716	Depression	25978	CHMP2B	ORPHA:803
HP:0000716	Depression	25978	CHMP2B	ORPHA:100070
HP:0000716	Depression	3178	HNRNPA1	ORPHA:803
HP:0000716	Depression	8148	TAF15	ORPHA:803
HP:0000716	Depression	5445	PON2	ORPHA:803
HP:0000716	Depression	9217	VAPB	ORPHA:803
HP:0000716	Depression	5630	PRPH	ORPHA:803
HP:0000716	Depression	55830	GLT8D1	ORPHA:803
HP:0000716	Depression	755	CFAP410	ORPHA:803
HP:0000716	Depression	10891	PPARGC1A	ORPHA:803
HP:0000716	Depression	6647	SOD1	ORPHA:803
HP:0000716	Depression	10133	OPTN	ORPHA:803
HP:0000716	Depression	9896	FIG4	ORPHA:803
HP:0000716	Depression	5444	PON1	ORPHA:803
HP:0000716	Depression	5446	PON3	ORPHA:803
HP:0000716	Depression	4744	NEFH	ORPHA:803
HP:0000716	Depression	5216	PFN1	ORPHA:803
HP:0000716	Depression	9782	MATR3	ORPHA:803
HP:0000716	Depression	54209	TREM2	ORPHA:803
HP:0000716	Depression	54209	TREM2	ORPHA:100070
HP:0000716	Depression	283	ANG	ORPHA:803
HP:0000716	Depression	29978	UBQLN2	ORPHA:803
HP:0000716	Depression	2733	GLE1	ORPHA:803
HP:0000716	Depression	4750	NEK1	ORPHA:803
HP:0000716	Depression	2043	EPHA4	ORPHA:803
HP:0000716	Depression	6311	ATXN2	ORPHA:803
HP:0000716	Depression	6311	ATXN2	OMIM:168600
HP:0000716	Depression	1610	DAO	ORPHA:803
HP:0000716	Depression	2066	ERBB4	ORPHA:803
HP:0000716	Depression	311	ANXA11	ORPHA:803
HP:0000716	Depression	23025	UNC13A	ORPHA:803
HP:0000716	Depression	899	CCNF	ORPHA:803
HP:0000716	Depression	27286	SRPX2	ORPHA:1945
HP:0000716	Depression	7201	TRHR	ORPHA:99832
HP:0000716	Depression	5649	RELN	ORPHA:101046
HP:0000716	Depression	9211	LGI1	ORPHA:101046
HP:0000716	Depression	9681	DEPDC5	ORPHA:101046
HP:0000716	Depression	9681	DEPDC5	ORPHA:98784
HP:0000716	Depression	5428	POLG	OMIM:607459
HP:0000716	Depression	5428	POLG	ORPHA:254892
HP:0000716	Depression	5428	POLG	OMIM:258450
HP:0000716	Depression	5428	POLG	ORPHA:254886
HP:0000716	Depression	5428	POLG	OMIM:157640
HP:0000716	Depression	5428	POLG	ORPHA:70595
HP:0000716	Depression	56652	TWNK	OMIM:607459
HP:0000716	Depression	56652	TWNK	ORPHA:254892
HP:0000716	Depression	56652	TWNK	OMIM:609286
HP:0000716	Depression	56652	TWNK	ORPHA:70595
HP:0000716	Depression	80331	DNAJC5	OMIM:162350
HP:0000716	Depression	11277	TREX1	ORPHA:247691
HP:0000716	Depression	79734	KCTD17	OMIM:616398
HP:0000716	Depression	79734	KCTD17	ORPHA:36899
HP:0000716	Depression	51142	CHCHD2	OMIM:616710
HP:0000716	Depression	11232	POLG2	OMIM:619425
HP:0000716	Depression	11232	POLG2	ORPHA:254892
HP:0000716	Depression	1861	TOR1A	OMIM:128100
HP:0000716	Depression	1861	TOR1A	ORPHA:36899
HP:0000716	Depression	5663	PSEN1	ORPHA:100070
HP:0000716	Depression	2896	GRN	ORPHA:100070
HP:0000716	Depression	54664	TMEM106B	ORPHA:100070
HP:0000716	Depression	291	SLC25A4	ORPHA:254892
HP:0000716	Depression	81848	SPRY4	ORPHA:432
HP:0000716	Depression	128674	PROKR2	ORPHA:432
HP:0000716	Depression	60675	PROK2	ORPHA:432
HP:0000716	Depression	55636	CHD7	ORPHA:432
HP:0000716	Depression	6870	TACR3	ORPHA:432
HP:0000716	Depression	1848	DUSP6	ORPHA:432
HP:0000716	Depression	26012	NSMF	ORPHA:432
HP:0000716	Depression	55717	WDR11	ORPHA:432
HP:0000716	Depression	9394	HS6ST1	ORPHA:432
HP:0000716	Depression	2796	GNRH1	ORPHA:432
HP:0000716	Depression	2798	GNRHR	ORPHA:432
HP:0000716	Depression	84634	KISS1R	ORPHA:432
HP:0000716	Depression	6866	TAC3	ORPHA:432
HP:0000716	Depression	8822	FGF17	ORPHA:432
HP:0000716	Depression	3814	KISS1	ORPHA:432
HP:0000716	Depression	4558	MT-TF	ORPHA:550
HP:0000716	Depression	4572	MT-TQ	ORPHA:550
HP:0000716	Depression	4512	MT-CO1	ORPHA:550
HP:0000716	Depression	4513	MT-CO2	ORPHA:550
HP:0000716	Depression	4514	MT-CO3	ORPHA:550
HP:0000716	Depression	4578	MT-TW	ORPHA:550
HP:0000716	Depression	4540	MT-ND5	ORPHA:550
HP:0000716	Depression	4541	MT-ND6	ORPHA:550
HP:0000716	Depression	4535	MT-ND1	ORPHA:550
HP:0000716	Depression	4538	MT-ND4	ORPHA:550
HP:0000716	Depression	4567	MT-TL1	ORPHA:550
HP:0000716	Depression	4567	MT-TL1	ORPHA:663
HP:0000716	Depression	4574	MT-TS1	ORPHA:550
HP:0000716	Depression	4574	MT-TS1	ORPHA:663
HP:0000716	Depression	4575	MT-TS2	ORPHA:550
HP:0000716	Depression	4575	MT-TS2	ORPHA:231183
HP:0000716	Depression	4564	MT-TH	ORPHA:550
HP:0000716	Depression	2767	GNA11	ORPHA:428
HP:0000716	Depression	846	CASR	ORPHA:428
HP:0000716	Depression	79813	EHMT1	ORPHA:96147
HP:0000716	Depression	4001	LMNB1	OMIM:169500
HP:0000716	Depression	8675	STX16	ORPHA:94089
HP:0000716	Depression	4568	MT-TL2	ORPHA:663
HP:0000716	Depression	4570	MT-TN	ORPHA:663
HP:0000716	Depression	7084	TK2	ORPHA:254886
HP:0000716	Depression	84909	AOPEP	OMIM:619565
HP:0000716	Depression	80347	COASY	OMIM:615643
HP:0000716	Depression	57505	AARS2	OMIM:615889
HP:0000716	Depression	5053	PAH	OMIM:261600
HP:0000716	Depression	5053	PAH	ORPHA:79254
HP:0000716	Depression	4952	OCRL	ORPHA:534
HP:0000716	Depression	2592	GALT	ORPHA:79239
HP:0000716	Depression	84196	USP48	ORPHA:96253
HP:0000716	Depression	7157	TP53	ORPHA:96253
HP:0000716	Depression	9101	USP8	ORPHA:96253
HP:0000716	Depression	64072	CDH23	ORPHA:96253
HP:0000716	Depression	64072	CDH23	ORPHA:231169
HP:0000716	Depression	2908	NR3C1	ORPHA:96253
HP:0000716	Depression	673	BRAF	ORPHA:96253
HP:0000716	Depression	3356	HTR2A	OMIM:608516
HP:0000716	Depression	3356	HTR2A	OMIM:164230
HP:0000716	Depression	2289	FKBP5	OMIM:608516
HP:0000716	Depression	121278	TPH2	OMIM:608516
HP:0000716	Depression	121278	TPH2	OMIM:613003
HP:0000716	Depression	6609	SMPD1	ORPHA:77293
HP:0000716	Depression	54834	GDAP2	OMIM:618369
HP:0000716	Depression	23317	DNAJC13	ORPHA:411602
HP:0000716	Depression	1981	EIF4G1	ORPHA:411602
HP:0000716	Depression	55737	VPS35	ORPHA:411602
HP:0000716	Depression	26058	GIGYF2	ORPHA:411602
HP:0000716	Depression	1201	CLN3	ORPHA:228346
HP:0000716	Depression	3759	KCNJ2	OMIM:170390
HP:0000716	Depression	1312	COMT	ORPHA:567
HP:0000716	Depression	221037	JMJD1C	ORPHA:567
HP:0000716	Depression	2812	GP1BB	ORPHA:567
HP:0000716	Depression	6239	RREB1	ORPHA:567
HP:0000716	Depression	6899	TBX1	ORPHA:567
HP:0000716	Depression	7290	HIRA	ORPHA:567
HP:0000716	Depression	9632	SEC24C	ORPHA:567
HP:0000716	Depression	7353	UFD1	ORPHA:567
HP:0000716	Depression	421	ARVCF	ORPHA:567
HP:0000716	Depression	2717	GLA	ORPHA:324
HP:0000716	Depression	5582	PRKCG	OMIM:605361
HP:0000716	Depression	5805	PTS	ORPHA:13
HP:0000716	Depression	1137	CHRNA4	ORPHA:98784
HP:0000716	Depression	1135	CHRNA2	ORPHA:98784
HP:0000716	Depression	57010	CABP4	ORPHA:98784
HP:0000716	Depression	1141	CHRNB2	ORPHA:98784
HP:0000716	Depression	1392	CRH	ORPHA:98784
HP:0000716	Depression	1813	DRD2	ORPHA:36899
HP:0000716	Depression	8910	SGCE	ORPHA:36899
HP:0000716	Depression	8910	SGCE	OMIM:159900
HP:0000716	Depression	164	AP1G1	OMIM:619467
HP:0000716	Depression	10046	MAMLD1	ORPHA:95706
HP:0000716	Depression	367	AR	ORPHA:95706
HP:0000716	Depression	57187	THOC2	ORPHA:457240
HP:0000716	Depression	57187	THOC2	OMIM:300957
HP:0000716	Depression	57338	JPH3	OMIM:606438
HP:0000716	Depression	2328	FMO3	OMIM:602079
HP:0000716	Depression	2328	FMO3	ORPHA:468726
HP:0000716	Depression	9757	KMT2B	ORPHA:589618
HP:0000716	Depression	7399	USH2A	ORPHA:231178
HP:0000716	Depression	79955	PDZD7	ORPHA:231178
HP:0000716	Depression	4647	MYO7A	ORPHA:231178
HP:0000716	Depression	4647	MYO7A	ORPHA:231169
HP:0000716	Depression	25861	WHRN	ORPHA:231178
HP:0000716	Depression	84059	ADGRV1	ORPHA:231178
HP:0000716	Depression	8863	PER3	OMIM:616882
HP:0000716	Depression	6711	SPTBN1	OMIM:619475
HP:0000716	Depression	2643	GCH1	ORPHA:98808
HP:0000716	Depression	4929	NR4A2	ORPHA:98808
HP:0000716	Depression	4929	NR4A2	OMIM:168600
HP:0000716	Depression	3615	IMPDH2	ORPHA:98808
HP:0000716	Depression	3425	IDUA	ORPHA:93473
HP:0000716	Depression	378884	NHLRC1	ORPHA:501
HP:0000716	Depression	7957	EPM2A	ORPHA:501
HP:0000716	Depression	203228	C9orf72	OMIM:105550
HP:0000716	Depression	493856	CISD2	OMIM:604928
HP:0000716	Depression	7504	XK	OMIM:300842
HP:0000716	Depression	10939	AFG3L2	ORPHA:101109
HP:0000716	Depression	9213	XPR1	OMIM:616413
HP:0000716	Depression	3145	HMBS	OMIM:176000
HP:0000716	Depression	3145	HMBS	ORPHA:79276
HP:0000716	Depression	8911	CACNA1I	OMIM:620114
HP:0000716	Depression	617	BCS1L	OMIM:124000
HP:0000716	Depression	7401	CLRN1	ORPHA:231183
HP:0000716	Depression	22901	ARSG	ORPHA:231183
HP:0000716	Depression	3035	HARS1	ORPHA:231183
HP:0000716	Depression	84131	CEP78	ORPHA:231183
HP:0000716	Depression	4221	MEN1	ORPHA:652
HP:0000716	Depression	1027	CDKN1B	ORPHA:652
HP:0000716	Depression	1026	CDKN1A	ORPHA:652
HP:0000716	Depression	1030	CDKN2B	ORPHA:652
HP:0000716	Depression	1031	CDKN2C	ORPHA:652
HP:0000716	Depression	210	ALAD	ORPHA:100924
HP:0000716	Depression	8913	CACNA1G	ORPHA:458803
HP:0000716	Depression	8913	CACNA1G	OMIM:616795
HP:0000716	Depression	6389	SDHA	OMIM:619259
HP:0000716	Depression	5538	PPT1	OMIM:256730
HP:0000716	Depression	8243	SMC1A	ORPHA:220386
HP:0000716	Depression	6532	SLC6A4	OMIM:164230
HP:0000716	Depression	875	CBS	OMIM:236200
HP:0000716	Depression	1371	CPOX	OMIM:121300
HP:0000716	Depression	10079	ATP9A	OMIM:620242
HP:0000716	Depression	8864	PER2	OMIM:604348
HP:0000716	Depression	4204	MECP2	OMIM:300260
HP:0000716	Depression	10083	USH1C	ORPHA:231169
HP:0000716	Depression	124590	USH1G	ORPHA:231169
HP:0000716	Depression	83715	ESPN	ORPHA:231169
HP:0000716	Depression	10518	CIB2	ORPHA:231169
HP:0000716	Depression	65217	PCDH15	ORPHA:231169
HP:0000716	Depression	2747	GLUD2	OMIM:168600
HP:0000716	Depression	126	ADH1C	OMIM:168600
HP:0000716	Depression	4576	MT-TT	OMIM:168600
HP:0000716	Depression	9627	SNCAIP	OMIM:168600
HP:0000716	Depression	5133	PDCD1	OMIM:126200
HP:0000717	Autism	199857	ALG14	OMIM:619031
HP:0000717	Autism	7528	YY1	ORPHA:506358
HP:0000717	Autism	7337	UBE3A	ORPHA:238446
HP:0000717	Autism	55217	TMLHE	OMIM:300872
HP:0000717	Autism	158	ADSL	OMIM:103050
HP:0000717	Autism	11253	MAN1B1	ORPHA:397941
HP:0000717	Autism	8367	H4C5	OMIM:619950
HP:0000717	Autism	1139	CHRNA7	ORPHA:199318
HP:0000717	Autism	5728	PTEN	OMIM:605309
HP:0000717	Autism	5728	PTEN	ORPHA:201
HP:0000717	Autism	123606	NIPA1	ORPHA:261183
HP:0000717	Autism	7283	TUBG1	ORPHA:261183
HP:0000717	Autism	81614	NIPA2	ORPHA:261183
HP:0000717	Autism	51126	NAA20	OMIM:619717
HP:0000717	Autism	23394	ADNP	OMIM:615873
HP:0000717	Autism	9759	HDAC4	ORPHA:1001
HP:0000717	Autism	79813	EHMT1	ORPHA:96147
HP:0000717	Autism	79813	EHMT1	OMIM:610253
HP:0000717	Autism	85358	SHANK3	OMIM:606232
HP:0000717	Autism	7681	MKRN3	OMIM:176270
HP:0000717	Autism	3653	IPW	OMIM:176270
HP:0000717	Autism	54551	MAGEL2	OMIM:176270
HP:0000717	Autism	54551	MAGEL2	ORPHA:177904
HP:0000717	Autism	54551	MAGEL2	ORPHA:177901
HP:0000717	Autism	54551	MAGEL2	ORPHA:98754
HP:0000717	Autism	791114	PWRN1	OMIM:176270
HP:0000717	Autism	100033413	SNORD116-1	OMIM:176270
HP:0000717	Autism	8924	HERC2	OMIM:176270
HP:0000717	Autism	145624	PWAR1	OMIM:176270
HP:0000717	Autism	23742	NPAP1	OMIM:176270
HP:0000717	Autism	338433	SNORD115-1	OMIM:176270
HP:0000717	Autism	2593	GAMT	ORPHA:382
HP:0000717	Autism	80816	ASXL3	OMIM:615485
HP:0000717	Autism	1806	DPYD	OMIM:274270
HP:0000717	Autism	27245	AHDC1	ORPHA:412069
HP:0000717	Autism	2782	GNB1	OMIM:616973
HP:0000717	Autism	23314	SATB2	ORPHA:251019
HP:0000717	Autism	2132	EXT2	ORPHA:466926
HP:0000717	Autism	1717	DHCR7	ORPHA:818
HP:0000717	Autism	1717	DHCR7	OMIM:270400
HP:0000717	Autism	5053	PAH	ORPHA:79254
HP:0000717	Autism	29072	SETD2	OMIM:620155
HP:0000717	Autism	55636	CHD7	ORPHA:138
HP:0000717	Autism	9723	SEMA3E	ORPHA:138
HP:0000717	Autism	4297	KMT2A	OMIM:605130
HP:0000717	Autism	4810	NHS	OMIM:302350
HP:0000717	Autism	5980	REV3L	ORPHA:570
HP:0000717	Autism	23129	PLXND1	ORPHA:570
HP:0000717	Autism	6638	SNRPN	ORPHA:177904
HP:0000717	Autism	6638	SNRPN	ORPHA:177901
HP:0000717	Autism	6638	SNRPN	OMIM:209850
HP:0000717	Autism	6638	SNRPN	ORPHA:98754
HP:0000717	Autism	4692	NDN	ORPHA:177904
HP:0000717	Autism	4692	NDN	ORPHA:177901
HP:0000717	Autism	4692	NDN	ORPHA:98754
HP:0000717	Autism	4948	OCA2	ORPHA:177904
HP:0000717	Autism	4948	OCA2	ORPHA:177901
HP:0000717	Autism	4948	OCA2	ORPHA:98754
HP:0000717	Autism	57551	TAOK1	OMIM:619575
HP:0000717	Autism	79868	ALG13	ORPHA:324422
HP:0000717	Autism	2892	GRIA3	OMIM:300699
HP:0000717	Autism	4128	MAOA	OMIM:300615
HP:0000717	Autism	24140	FTSJ1	OMIM:309549
HP:0000717	Autism	201163	FLCN	OMIM:610883
HP:0000717	Autism	412	STS	ORPHA:281090
HP:0000717	Autism	412	STS	ORPHA:461
HP:0000717	Autism	546	ATRX	ORPHA:847
HP:0000717	Autism	23389	MED13L	ORPHA:369891
HP:0000717	Autism	23389	MED13L	OMIM:616789
HP:0000717	Autism	1312	COMT	ORPHA:567
HP:0000717	Autism	221037	JMJD1C	ORPHA:567
HP:0000717	Autism	2812	GP1BB	ORPHA:567
HP:0000717	Autism	6239	RREB1	ORPHA:567
HP:0000717	Autism	6899	TBX1	ORPHA:567
HP:0000717	Autism	6899	TBX1	ORPHA:1727
HP:0000717	Autism	7290	HIRA	ORPHA:567
HP:0000717	Autism	9632	SEC24C	ORPHA:567
HP:0000717	Autism	7353	UFD1	ORPHA:567
HP:0000717	Autism	421	ARVCF	ORPHA:567
HP:0000717	Autism	10716	TBR1	OMIM:606053
HP:0000717	Autism	10483	SEC23B	ORPHA:201
HP:0000717	Autism	6390	SDHB	ORPHA:201
HP:0000717	Autism	6392	SDHD	ORPHA:201
HP:0000717	Autism	6391	SDHC	ORPHA:201
HP:0000717	Autism	207	AKT1	ORPHA:201
HP:0000717	Autism	205717	USF3	ORPHA:201
HP:0000717	Autism	5290	PIK3CA	ORPHA:201
HP:0000717	Autism	100144748	KLLN	ORPHA:201
HP:0000717	Autism	1105	CHD1	OMIM:617682
HP:0000717	Autism	372	ARCN1	OMIM:617164
HP:0000717	Autism	7466	WFS1	OMIM:614296
HP:0000717	Autism	2332	FMR1	OMIM:300624
HP:0000717	Autism	2332	FMR1	ORPHA:908
HP:0000717	Autism	93627	TBCK	ORPHA:488632
HP:0000717	Autism	5144	PDE4D	OMIM:614613
HP:0000717	Autism	5144	PDE4D	ORPHA:280651
HP:0000717	Autism	6304	SATB1	OMIM:619229
HP:0000717	Autism	3737	KCNA2	ORPHA:442835
HP:0000717	Autism	1759	DNM1	ORPHA:442835
HP:0000717	Autism	8120	AP3B2	ORPHA:442835
HP:0000717	Autism	523	ATP6V1A	ORPHA:442835
HP:0000717	Autism	10991	SLC38A3	ORPHA:442835
HP:0000717	Autism	51343	FZR1	ORPHA:442835
HP:0000717	Autism	22906	TRAK1	ORPHA:442835
HP:0000717	Autism	2566	GABRG2	ORPHA:442835
HP:0000717	Autism	1917	EEF1A2	ORPHA:442835
HP:0000717	Autism	2561	GABRB2	ORPHA:442835
HP:0000717	Autism	8831	SYNGAP1	ORPHA:442835
HP:0000717	Autism	7532	YWHAG	ORPHA:442835
HP:0000717	Autism	79876	UBA5	ORPHA:442835
HP:0000717	Autism	6328	SCN3A	ORPHA:442835
HP:0000717	Autism	2558	GABRA5	ORPHA:442835
HP:0000717	Autism	2558	GABRA5	OMIM:618559
HP:0000717	Autism	781	CACNA2D1	ORPHA:442835
HP:0000717	Autism	2906	GRIN2D	ORPHA:442835
HP:0000717	Autism	116150	NUS1	ORPHA:442835
HP:0000717	Autism	10659	CELF2	ORPHA:442835
HP:0000717	Autism	774	CACNA1B	ORPHA:442835
HP:0000717	Autism	1213	CLTC	ORPHA:442835
HP:0000717	Autism	51741	WWOX	ORPHA:442835
HP:0000717	Autism	23334	SZT2	ORPHA:442835
HP:0000717	Autism	51412	ACTL6B	ORPHA:442835
HP:0000717	Autism	348980	HCN1	ORPHA:442835
HP:0000717	Autism	6506	SLC1A2	ORPHA:442835
HP:0000717	Autism	8867	SYNJ1	ORPHA:442835
HP:0000717	Autism	2258	FGF13	ORPHA:442835
HP:0000717	Autism	477	ATP1A2	ORPHA:442835
HP:0000717	Autism	3745	KCNB1	ORPHA:442835
HP:0000717	Autism	284111	SLC13A5	ORPHA:442835
HP:0000717	Autism	25977	NECAP1	ORPHA:442835
HP:0000717	Autism	16	AARS1	ORPHA:442835
HP:0000717	Autism	6334	SCN8A	ORPHA:442835
HP:0000717	Autism	22866	CNKSR2	ORPHA:442835
HP:0000717	Autism	9568	GABBR2	ORPHA:442835
HP:0000717	Autism	2555	GABRA2	ORPHA:442835
HP:0000717	Autism	55152	DALRD3	ORPHA:442835
HP:0000717	Autism	773	CACNA1A	ORPHA:442835
HP:0000717	Autism	26999	CYFIP2	ORPHA:442835
HP:0000717	Autism	4915	NTRK2	ORPHA:442835
HP:0000717	Autism	25973	PARS2	ORPHA:442835
HP:0000717	Autism	23097	CDK19	ORPHA:442835
HP:0000717	Autism	64801	ARV1	ORPHA:442835
HP:0000717	Autism	79947	DHDDS	ORPHA:442835
HP:0000717	Autism	2257	FGF12	ORPHA:442835
HP:0000717	Autism	5530	PPP3CA	ORPHA:442835
HP:0000717	Autism	478	ATP1A3	ORPHA:442835
HP:0000717	Autism	25942	SIN3A	OMIM:613406
HP:0000717	Autism	10522	DEAF1	OMIM:615828
HP:0000717	Autism	10522	DEAF1	ORPHA:468620
HP:0000717	Autism	9487	PIGL	ORPHA:3474
HP:0000717	Autism	7915	ALDH5A1	OMIM:271980
HP:0000717	Autism	2628	GATM	OMIM:612718
HP:0000717	Autism	23476	BRD4	ORPHA:199
HP:0000717	Autism	9126	SMC3	ORPHA:199
HP:0000717	Autism	8243	SMC1A	ORPHA:199
HP:0000717	Autism	25836	NIPBL	ORPHA:199
HP:0000717	Autism	55869	HDAC8	ORPHA:199
HP:0000717	Autism	5885	RAD21	ORPHA:199
HP:0000717	Autism	1798	DPAGT1	ORPHA:86309
HP:0000717	Autism	10841	FTCD	ORPHA:51208
HP:0000717	Autism	3975	LHX1	ORPHA:261265
HP:0000717	Autism	6928	HNF1B	ORPHA:261265
HP:0000717	Autism	139411	PTCHD1	OMIM:300830
HP:0000717	Autism	57680	CHD8	OMIM:615032
HP:0000717	Autism	6711	SPTBN1	OMIM:619475
HP:0000717	Autism	1387	CREBBP	OMIM:180849
HP:0000717	Autism	2033	EP300	OMIM:180849
HP:0000717	Autism	1593	CYP27A1	ORPHA:909
HP:0000717	Autism	1859	DYRK1A	OMIM:614104
HP:0000717	Autism	6938	TCF12	OMIM:615314
HP:0000717	Autism	7249	TSC2	OMIM:613254
HP:0000717	Autism	7249	TSC2	ORPHA:805
HP:0000717	Autism	3458	IFNG	OMIM:613254
HP:0000717	Autism	3458	IFNG	ORPHA:805
HP:0000717	Autism	6804	STX1A	ORPHA:904
HP:0000717	Autism	7461	CLIP2	ORPHA:904
HP:0000717	Autism	84277	DNAJC30	ORPHA:904
HP:0000717	Autism	8468	FKBP6	ORPHA:904
HP:0000717	Autism	5982	RFC2	ORPHA:904
HP:0000717	Autism	2969	GTF2I	ORPHA:904
HP:0000717	Autism	3984	LIMK1	ORPHA:904
HP:0000717	Autism	9569	GTF2IRD1	ORPHA:904
HP:0000717	Autism	155382	VPS37D	ORPHA:904
HP:0000717	Autism	155368	METTL27	ORPHA:904
HP:0000717	Autism	114049	BUD23	ORPHA:904
HP:0000717	Autism	7458	EIF4H	ORPHA:904
HP:0000717	Autism	84163	GTF2IRD2	ORPHA:904
HP:0000717	Autism	9275	BCL7B	ORPHA:904
HP:0000717	Autism	26608	TBL2	ORPHA:904
HP:0000717	Autism	653361	NCF1	ORPHA:904
HP:0000717	Autism	135886	TMEM270	ORPHA:904
HP:0000717	Autism	51085	MLXIPL	ORPHA:904
HP:0000717	Autism	9031	BAZ1B	ORPHA:904
HP:0000717	Autism	2006	ELN	ORPHA:904
HP:0000717	Autism	9968	MED12	OMIM:309520
HP:0000717	Autism	9968	MED12	OMIM:300895
HP:0000717	Autism	5590	PRKCZ	ORPHA:1606
HP:0000717	Autism	2563	GABRD	ORPHA:1606
HP:0000717	Autism	23013	SPEN	ORPHA:1606
HP:0000717	Autism	8510	MMP23B	ORPHA:1606
HP:0000717	Autism	7798	LUZP1	ORPHA:1606
HP:0000717	Autism	6497	SKI	ORPHA:1606
HP:0000717	Autism	10630	PDPN	ORPHA:1606
HP:0000717	Autism	3339	HSPG2	ORPHA:1606
HP:0000717	Autism	10277	UBE4B	ORPHA:1606
HP:0000717	Autism	8514	KCNAB2	ORPHA:1606
HP:0000717	Autism	473	RERE	ORPHA:1606
HP:0000717	Autism	63976	PRDM16	ORPHA:1606
HP:0000717	Autism	54897	CASZ1	ORPHA:1606
HP:0000717	Autism	6134	RPL10	ORPHA:459070
HP:0000717	Autism	26047	CNTNAP2	ORPHA:163681
HP:0000717	Autism	55343	SLC35C1	OMIM:266265
HP:0000717	Autism	23405	DICER1	OMIM:618272
HP:0000717	Autism	26137	ZBTB20	OMIM:259050
HP:0000717	Autism	2312	FLG	ORPHA:461
HP:0000717	Autism	4089	SMAD4	OMIM:139210
HP:0000717	Autism	4841	NONO	OMIM:300967
HP:0000717	Autism	4841	NONO	ORPHA:466791
HP:0000717	Autism	29123	ANKRD11	ORPHA:261250
HP:0000717	Autism	23096	IQSEC2	ORPHA:217377
HP:0000717	Autism	7025	NR2F1	OMIM:615722
HP:0000717	Autism	7248	TSC1	OMIM:191100
HP:0000717	Autism	7248	TSC1	ORPHA:805
HP:0000717	Autism	10743	RAI1	ORPHA:1713
HP:0000717	Autism	4204	MECP2	OMIM:300496
HP:0000717	Autism	775	CACNA1C	OMIM:601005
HP:0000717	Autism	210	ALAD	ORPHA:100924
HP:0000717	Autism	10479	SLC9A6	ORPHA:85278
HP:0000717	Autism	8242	KDM5C	ORPHA:85279
HP:0000717	Autism	4781	NFIB	OMIM:618286
HP:0000717	Autism	4668	NAGA	ORPHA:79281
HP:0000717	Autism	4668	NAGA	ORPHA:79279
HP:0000717	Autism	10295	BCKDK	OMIM:614923
HP:0000717	Autism	85440	DOCK7	OMIM:615859
HP:0000717	Autism	4693	NDP	ORPHA:649
HP:0000717	Autism	5573	PRKAR1A	ORPHA:280651
HP:0000717	Autism	2742	GLRA2	OMIM:301076
HP:0000717	Autism	11141	IL1RAPL1	OMIM:300143
HP:0000717	Autism	54413	NLGN3	OMIM:300425
HP:0000717	Autism	25970	SH2B1	ORPHA:261197
HP:0000717	Autism	8621	CDK13	OMIM:617360
HP:0000717	Autism	2702	GJA5	OMIM:612474
HP:0000717	Autism	2703	GJA8	OMIM:612474
HP:0000717	Autism	4212	MEIS2	ORPHA:261190
HP:0000717	Autism	6326	SCN2A	OMIM:613721
HP:0000717	Autism	5062	PAK2	OMIM:618458
HP:0000717	Autism	2260	FGFR1	ORPHA:3157
HP:0000717	Autism	128674	PROKR2	ORPHA:3157
HP:0000717	Autism	6657	SOX2	ORPHA:3157
HP:0000717	Autism	6658	SOX3	ORPHA:3157
HP:0000717	Autism	9915	ARNT2	ORPHA:3157
HP:0000717	Autism	8820	HESX1	ORPHA:3157
HP:0000717	Autism	5015	OTX2	ORPHA:3157
HP:0000718	Aggressive behavior	10682	EBP	ORPHA:401973
HP:0000718	Aggressive behavior	5138	PDE2A	OMIM:619150
HP:0000718	Aggressive behavior	3064	HTT	ORPHA:399
HP:0000718	Aggressive behavior	6515	SLC2A3	ORPHA:399
HP:0000718	Aggressive behavior	199857	ALG14	OMIM:619031
HP:0000718	Aggressive behavior	8450	CUL4B	OMIM:300354
HP:0000718	Aggressive behavior	8450	CUL4B	ORPHA:85293
HP:0000718	Aggressive behavior	158	ADSL	OMIM:103050
HP:0000718	Aggressive behavior	6535	SLC6A8	OMIM:300352
HP:0000718	Aggressive behavior	23394	ADNP	ORPHA:404448
HP:0000718	Aggressive behavior	26960	NBEA	OMIM:619157
HP:0000718	Aggressive behavior	340533	NEXMIF	OMIM:300912
HP:0000718	Aggressive behavior	1183	CLCN4	OMIM:300114
HP:0000718	Aggressive behavior	1183	CLCN4	ORPHA:485350
HP:0000718	Aggressive behavior	9853	RUSC2	OMIM:617773
HP:0000718	Aggressive behavior	2972	BRF1	OMIM:616202
HP:0000718	Aggressive behavior	4897	NRCAM	OMIM:619833
HP:0000718	Aggressive behavior	7109	TRAPPC10	OMIM:620027
HP:0000718	Aggressive behavior	3703	STT3A	OMIM:619714
HP:0000718	Aggressive behavior	4693	NDP	OMIM:310600
HP:0000718	Aggressive behavior	1788	DNMT3A	ORPHA:404443
HP:0000718	Aggressive behavior	1119	CHKA	OMIM:620023
HP:0000718	Aggressive behavior	5457	POU4F1	ORPHA:314647
HP:0000718	Aggressive behavior	23261	CAMTA1	ORPHA:314647
HP:0000718	Aggressive behavior	23261	CAMTA1	OMIM:614756
HP:0000718	Aggressive behavior	79581	SLC52A2	OMIM:614707
HP:0000718	Aggressive behavior	23126	POGZ	ORPHA:468678
HP:0000718	Aggressive behavior	23126	POGZ	OMIM:616364
HP:0000718	Aggressive behavior	64324	NSD1	ORPHA:821
HP:0000718	Aggressive behavior	64324	NSD1	OMIM:117550
HP:0000718	Aggressive behavior	29072	SETD2	ORPHA:821
HP:0000718	Aggressive behavior	29072	SETD2	OMIM:616831
HP:0000718	Aggressive behavior	10297	APC2	ORPHA:821
HP:0000718	Aggressive behavior	10093	ARPC4	OMIM:620141
HP:0000718	Aggressive behavior	2731	GLDC	OMIM:605899
HP:0000718	Aggressive behavior	275	AMT	OMIM:605899
HP:0000718	Aggressive behavior	2593	GAMT	ORPHA:382
HP:0000718	Aggressive behavior	2593	GAMT	OMIM:612736
HP:0000718	Aggressive behavior	116931	MED12L	OMIM:618872
HP:0000718	Aggressive behavior	387119	CEP85L	OMIM:618873
HP:0000718	Aggressive behavior	9578	CDC42BPB	OMIM:619841
HP:0000718	Aggressive behavior	57582	KCNT1	OMIM:615005
HP:0000718	Aggressive behavior	51111	KMT5B	OMIM:617788
HP:0000718	Aggressive behavior	8239	USP9X	OMIM:300919
HP:0000718	Aggressive behavior	55690	PACS1	OMIM:615009
HP:0000718	Aggressive behavior	55904	KMT2E	OMIM:618512
HP:0000718	Aggressive behavior	56623	INPP5E	ORPHA:75858
HP:0000718	Aggressive behavior	56623	INPP5E	OMIM:213300
HP:0000718	Aggressive behavior	10847	SRCAP	ORPHA:2044
HP:0000718	Aggressive behavior	10847	SRCAP	OMIM:136140
HP:0000718	Aggressive behavior	5689	PSMB1	OMIM:620038
HP:0000718	Aggressive behavior	57082	KNL1	OMIM:604321
HP:0000718	Aggressive behavior	284403	WDR62	OMIM:604317
HP:0000718	Aggressive behavior	6660	SOX5	ORPHA:313892
HP:0000718	Aggressive behavior	64601	VPS16	OMIM:619291
HP:0000718	Aggressive behavior	288	ANK3	OMIM:615493
HP:0000718	Aggressive behavior	288	ANK3	ORPHA:356996
HP:0000718	Aggressive behavior	2892	GRIA3	OMIM:300699
HP:0000718	Aggressive behavior	2892	GRIA3	ORPHA:364028
HP:0000718	Aggressive behavior	10134	BCAP31	ORPHA:369939
HP:0000718	Aggressive behavior	57492	ARID1B	OMIM:135900
HP:0000718	Aggressive behavior	57492	ARID1B	ORPHA:1465
HP:0000718	Aggressive behavior	9739	SETD1A	OMIM:619056
HP:0000718	Aggressive behavior	816	CAMK2B	OMIM:617799
HP:0000718	Aggressive behavior	10352	WARS2	OMIM:619738
HP:0000718	Aggressive behavior	10352	WARS2	ORPHA:572798
HP:0000718	Aggressive behavior	10352	WARS2	OMIM:617710
HP:0000718	Aggressive behavior	81857	MED25	ORPHA:464738
HP:0000718	Aggressive behavior	3953	LEPR	OMIM:614963
HP:0000718	Aggressive behavior	23732	FRRS1L	ORPHA:725
HP:0000718	Aggressive behavior	2903	GRIN2A	ORPHA:725
HP:0000718	Aggressive behavior	2903	GRIN2A	ORPHA:98818
HP:0000718	Aggressive behavior	83480	PUS3	ORPHA:488627
HP:0000718	Aggressive behavior	1717	DHCR7	OMIM:270400
HP:0000718	Aggressive behavior	5621	PRNP	OMIM:603218
HP:0000718	Aggressive behavior	5621	PRNP	OMIM:606688
HP:0000718	Aggressive behavior	5621	PRNP	OMIM:137440
HP:0000718	Aggressive behavior	1759	DNM1	ORPHA:2382
HP:0000718	Aggressive behavior	2562	GABRB3	ORPHA:2382
HP:0000718	Aggressive behavior	5602	MAPK10	ORPHA:2382
HP:0000718	Aggressive behavior	773	CACNA1A	ORPHA:2382
HP:0000718	Aggressive behavior	773	CACNA1A	ORPHA:2131
HP:0000718	Aggressive behavior	6323	SCN1A	ORPHA:2382
HP:0000718	Aggressive behavior	23316	CUX2	ORPHA:2382
HP:0000718	Aggressive behavior	1106	CHD2	ORPHA:2382
HP:0000718	Aggressive behavior	4297	KMT2A	ORPHA:319182
HP:0000718	Aggressive behavior	4297	KMT2A	OMIM:605130
HP:0000718	Aggressive behavior	3612	IMPA1	OMIM:617323
HP:0000718	Aggressive behavior	6999	TDO2	OMIM:600627
HP:0000718	Aggressive behavior	57178	ZMIZ1	OMIM:618659
HP:0000718	Aggressive behavior	22995	CEP152	OMIM:614852
HP:0000718	Aggressive behavior	3340	NDST1	OMIM:616116
HP:0000718	Aggressive behavior	79583	TMEM231	OMIM:614970
HP:0000718	Aggressive behavior	79813	EHMT1	OMIM:610253
HP:0000718	Aggressive behavior	23230	VPS13A	ORPHA:2388
HP:0000718	Aggressive behavior	23230	VPS13A	OMIM:200150
HP:0000718	Aggressive behavior	23314	SATB2	OMIM:612313
HP:0000718	Aggressive behavior	23314	SATB2	ORPHA:251028
HP:0000718	Aggressive behavior	23314	SATB2	ORPHA:251019
HP:0000718	Aggressive behavior	84300	UQCC2	OMIM:615824
HP:0000718	Aggressive behavior	25942	SIN3A	OMIM:613406
HP:0000718	Aggressive behavior	6513	SLC2A1	ORPHA:98811
HP:0000718	Aggressive behavior	112476	PRRT2	ORPHA:98811
HP:0000718	Aggressive behavior	10522	DEAF1	OMIM:615828
HP:0000718	Aggressive behavior	10522	DEAF1	OMIM:617171
HP:0000718	Aggressive behavior	10522	DEAF1	ORPHA:468620
HP:0000718	Aggressive behavior	4247	MGAT2	OMIM:212066
HP:0000718	Aggressive behavior	6908	TBP	OMIM:607136
HP:0000718	Aggressive behavior	7915	ALDH5A1	OMIM:271980
HP:0000718	Aggressive behavior	1499	CTNNB1	ORPHA:404473
HP:0000718	Aggressive behavior	1499	CTNNB1	OMIM:615075
HP:0000718	Aggressive behavior	5654	HTRA1	ORPHA:199354
HP:0000718	Aggressive behavior	4953	ODC1	OMIM:619075
HP:0000718	Aggressive behavior	4953	ODC1	ORPHA:544488
HP:0000718	Aggressive behavior	1798	DPAGT1	ORPHA:86309
HP:0000718	Aggressive behavior	1798	DPAGT1	OMIM:608093
HP:0000718	Aggressive behavior	26038	CHD5	OMIM:619873
HP:0000718	Aggressive behavior	8260	NAA10	OMIM:309800
HP:0000718	Aggressive behavior	54880	BCOR	OMIM:309800
HP:0000718	Aggressive behavior	29081	METTL5	OMIM:618665
HP:0000718	Aggressive behavior	388662	SLC6A17	ORPHA:457212
HP:0000718	Aggressive behavior	388662	SLC6A17	OMIM:616269
HP:0000718	Aggressive behavior	3028	HSD17B10	OMIM:300438
HP:0000718	Aggressive behavior	5063	PAK3	OMIM:300558
HP:0000718	Aggressive behavior	8905	AP1S2	ORPHA:85335
HP:0000718	Aggressive behavior	8905	AP1S2	ORPHA:85329
HP:0000718	Aggressive behavior	8905	AP1S2	OMIM:304340
HP:0000718	Aggressive behavior	1593	CYP27A1	ORPHA:909
HP:0000718	Aggressive behavior	9354	UBE4A	OMIM:619639
HP:0000718	Aggressive behavior	54902	TTC19	OMIM:615157
HP:0000718	Aggressive behavior	92609	TIMM50	OMIM:617698
HP:0000718	Aggressive behavior	92609	TIMM50	ORPHA:505216
HP:0000718	Aggressive behavior	540	ATP7B	ORPHA:905
HP:0000718	Aggressive behavior	6507	SLC1A3	ORPHA:2131
HP:0000718	Aggressive behavior	477	ATP1A2	ORPHA:2131
HP:0000718	Aggressive behavior	478	ATP1A3	ORPHA:2131
HP:0000718	Aggressive behavior	8659	ALDH4A1	ORPHA:79101
HP:0000718	Aggressive behavior	4952	OCRL	OMIM:309000
HP:0000718	Aggressive behavior	2259	FGF14	ORPHA:98764
HP:0000718	Aggressive behavior	84992	PIGY	OMIM:616809
HP:0000718	Aggressive behavior	25814	ATXN10	ORPHA:98761
HP:0000718	Aggressive behavior	283209	PGM2L1	OMIM:620191
HP:0000718	Aggressive behavior	26137	ZBTB20	OMIM:259050
HP:0000718	Aggressive behavior	5594	MAPK1	OMIM:619087
HP:0000718	Aggressive behavior	25970	SH2B1	ORPHA:329249
HP:0000718	Aggressive behavior	113179	ADAT3	OMIM:615286
HP:0000718	Aggressive behavior	113179	ADAT3	ORPHA:363528
HP:0000718	Aggressive behavior	9896	FIG4	OMIM:612691
HP:0000718	Aggressive behavior	9896	FIG4	ORPHA:208441
HP:0000718	Aggressive behavior	6942	TCF20	OMIM:618430
HP:0000718	Aggressive behavior	23400	ATP13A2	OMIM:617225
HP:0000718	Aggressive behavior	23400	ATP13A2	OMIM:606693
HP:0000718	Aggressive behavior	9993	DGCR2	OMIM:192430
HP:0000718	Aggressive behavior	8220	ESS2	OMIM:192430
HP:0000718	Aggressive behavior	8214	DGCR6	OMIM:192430
HP:0000718	Aggressive behavior	54487	DGCR8	OMIM:192430
HP:0000718	Aggressive behavior	6899	TBX1	OMIM:192430
HP:0000718	Aggressive behavior	10430	TMEM147	OMIM:620075
HP:0000718	Aggressive behavior	51322	WAC	ORPHA:284169
HP:0000718	Aggressive behavior	51322	WAC	OMIM:616708
HP:0000718	Aggressive behavior	51322	WAC	ORPHA:466950
HP:0000718	Aggressive behavior	11152	WDR45	OMIM:300894
HP:0000718	Aggressive behavior	11152	WDR45	ORPHA:329284
HP:0000718	Aggressive behavior	7030	TFE3	OMIM:301066
HP:0000718	Aggressive behavior	55739	NAXD	OMIM:618321
HP:0000718	Aggressive behavior	8242	KDM5C	OMIM:300534
HP:0000718	Aggressive behavior	8242	KDM5C	ORPHA:85279
HP:0000718	Aggressive behavior	9922	IQSEC1	OMIM:618687
HP:0000718	Aggressive behavior	27086	FOXP1	OMIM:613670
HP:0000718	Aggressive behavior	26047	CNTNAP2	OMIM:610042
HP:0000718	Aggressive behavior	26047	CNTNAP2	ORPHA:163681
HP:0000718	Aggressive behavior	10165	SLC25A13	ORPHA:247585
HP:0000718	Aggressive behavior	3458	IFNG	ORPHA:805
HP:0000718	Aggressive behavior	7248	TSC1	ORPHA:805
HP:0000718	Aggressive behavior	7249	TSC2	ORPHA:805
HP:0000718	Aggressive behavior	6683	SPAST	OMIM:182601
HP:0000718	Aggressive behavior	6595	SMARCA2	OMIM:601358
HP:0000718	Aggressive behavior	1917	EEF1A2	OMIM:616393
HP:0000718	Aggressive behavior	1917	EEF1A2	OMIM:616409
HP:0000718	Aggressive behavior	7319	UBE2A	ORPHA:163956
HP:0000718	Aggressive behavior	7319	UBE2A	OMIM:300860
HP:0000718	Aggressive behavior	164	AP1G1	OMIM:619548
HP:0000718	Aggressive behavior	164	AP1G1	OMIM:619467
HP:0000718	Aggressive behavior	339453	TMEM240	OMIM:607454
HP:0000718	Aggressive behavior	3720	JARID2	OMIM:620098
HP:0000718	Aggressive behavior	1203	CLN5	ORPHA:228360
HP:0000718	Aggressive behavior	57526	PCDH19	ORPHA:101039
HP:0000718	Aggressive behavior	57526	PCDH19	OMIM:300088
HP:0000718	Aggressive behavior	23013	SPEN	OMIM:619312
HP:0000718	Aggressive behavior	84894	LINGO1	OMIM:618103
HP:0000718	Aggressive behavior	56896	DPYSL5	OMIM:619435
HP:0000718	Aggressive behavior	1859	DYRK1A	ORPHA:268261
HP:0000718	Aggressive behavior	54517	PUS7	OMIM:618342
HP:0000718	Aggressive behavior	57102	C12orf4	OMIM:618221
HP:0000718	Aggressive behavior	10765	KDM5B	OMIM:618109
HP:0000718	Aggressive behavior	80184	CEP290	OMIM:610188
HP:0000718	Aggressive behavior	8924	HERC2	OMIM:615516
HP:0000718	Aggressive behavior	114327	EFHC1	ORPHA:307
HP:0000718	Aggressive behavior	2563	GABRD	ORPHA:307
HP:0000718	Aggressive behavior	1181	CLCN2	ORPHA:307
HP:0000718	Aggressive behavior	2554	GABRA1	ORPHA:307
HP:0000718	Aggressive behavior	3786	KCNQ3	ORPHA:307
HP:0000718	Aggressive behavior	22858	CILK1	ORPHA:307
HP:0000718	Aggressive behavior	8629	JRK	ORPHA:307
HP:0000718	Aggressive behavior	785	CACNB4	ORPHA:307
HP:0000718	Aggressive behavior	3067	HDC	OMIM:137580
HP:0000718	Aggressive behavior	114798	SLITRK1	OMIM:137580
HP:0000718	Aggressive behavior	85358	SHANK3	OMIM:606232
HP:0000718	Aggressive behavior	50814	NSDHL	ORPHA:251383
HP:0000718	Aggressive behavior	50814	NSDHL	OMIM:300831
HP:0000718	Aggressive behavior	5575	PRKAR1B	OMIM:619680
HP:0000718	Aggressive behavior	2334	AFF2	ORPHA:100973
HP:0000718	Aggressive behavior	2334	AFF2	OMIM:309548
HP:0000718	Aggressive behavior	1387	CREBBP	ORPHA:353281
HP:0000718	Aggressive behavior	1387	CREBBP	ORPHA:353277
HP:0000718	Aggressive behavior	23114	NFASC	OMIM:618356
HP:0000718	Aggressive behavior	6096	RORB	OMIM:618357
HP:0000718	Aggressive behavior	23030	KDM4B	OMIM:619320
HP:0000718	Aggressive behavior	23291	FBXW11	OMIM:618914
HP:0000718	Aggressive behavior	2782	GNB1	OMIM:616973
HP:0000718	Aggressive behavior	5053	PAH	OMIM:261600
HP:0000718	Aggressive behavior	4081	MAB21L1	OMIM:618479
HP:0000718	Aggressive behavior	1654	DDX3X	ORPHA:457260
HP:0000718	Aggressive behavior	1654	DDX3X	OMIM:300958
HP:0000718	Aggressive behavior	2033	EP300	ORPHA:353284
HP:0000718	Aggressive behavior	3097	HIVEP2	OMIM:616977
HP:0000718	Aggressive behavior	6301	SARS1	OMIM:617709
HP:0000718	Aggressive behavior	5932	RBBP8	OMIM:251255
HP:0000718	Aggressive behavior	26224	FBXL3	OMIM:606220
HP:0000718	Aggressive behavior	55777	MBD5	OMIM:156200
HP:0000718	Aggressive behavior	55250	ELP2	OMIM:617270
HP:0000718	Aggressive behavior	51132	RLIM	OMIM:300978
HP:0000718	Aggressive behavior	2332	FMR1	ORPHA:449291
HP:0000718	Aggressive behavior	4128	MAOA	OMIM:300615
HP:0000718	Aggressive behavior	24140	FTSJ1	OMIM:309549
HP:0000718	Aggressive behavior	6601	SMARCC2	OMIM:618362
HP:0000718	Aggressive behavior	6601	SMARCC2	ORPHA:1465
HP:0000718	Aggressive behavior	63035	BCORL1	OMIM:301029
HP:0000718	Aggressive behavior	7468	NSD2	OMIM:619695
HP:0000718	Aggressive behavior	11253	MAN1B1	OMIM:614202
HP:0000718	Aggressive behavior	7874	USP7	OMIM:616863
HP:0000718	Aggressive behavior	7874	USP7	ORPHA:500055
HP:0000718	Aggressive behavior	6597	SMARCA4	ORPHA:1465
HP:0000718	Aggressive behavior	6598	SMARCB1	ORPHA:1465
HP:0000718	Aggressive behavior	6659	SOX4	ORPHA:1465
HP:0000718	Aggressive behavior	8289	ARID1A	ORPHA:1465
HP:0000718	Aggressive behavior	5977	DPF2	ORPHA:1465
HP:0000718	Aggressive behavior	6602	SMARCD1	ORPHA:1465
HP:0000718	Aggressive behavior	196528	ARID2	ORPHA:1465
HP:0000718	Aggressive behavior	6605	SMARCE1	ORPHA:1465
HP:0000718	Aggressive behavior	6664	SOX11	ORPHA:1465
HP:0000718	Aggressive behavior	54834	GDAP2	OMIM:618369
HP:0000718	Aggressive behavior	29920	PYCR2	ORPHA:481152
HP:0000718	Aggressive behavior	1201	CLN3	ORPHA:228346
HP:0000718	Aggressive behavior	23389	MED13L	ORPHA:369891
HP:0000718	Aggressive behavior	20	ABCA2	OMIM:618808
HP:0000718	Aggressive behavior	2898	GRIK2	OMIM:619580
HP:0000718	Aggressive behavior	1781	DYNC1I2	OMIM:618492
HP:0000718	Aggressive behavior	5718	PSMD12	ORPHA:529962
HP:0000718	Aggressive behavior	2186	BPTF	ORPHA:529962
HP:0000718	Aggressive behavior	9758	FRMPD4	OMIM:300983
HP:0000718	Aggressive behavior	8802	SUCLG1	ORPHA:17
HP:0000718	Aggressive behavior	80185	TTI2	OMIM:615541
HP:0000718	Aggressive behavior	80185	TTI2	ORPHA:391307
HP:0000718	Aggressive behavior	79576	NKAP	OMIM:301039
HP:0000718	Aggressive behavior	5283	PIGH	OMIM:618010
HP:0000718	Aggressive behavior	4126	MANBA	OMIM:248510
HP:0000718	Aggressive behavior	26040	SETBP1	OMIM:616078
HP:0000718	Aggressive behavior	3188	HNRNPH2	OMIM:300986
HP:0000718	Aggressive behavior	8398	PLA2G6	OMIM:612953
HP:0000718	Aggressive behavior	4204	MECP2	ORPHA:3077
HP:0000718	Aggressive behavior	6697	SPR	OMIM:612716
HP:0000718	Aggressive behavior	84065	TMEM222	OMIM:619470
HP:0000718	Aggressive behavior	10771	ZMYND11	OMIM:616083
HP:0000718	Aggressive behavior	953	ENTPD1	ORPHA:401810
HP:0000718	Aggressive behavior	953	ENTPD1	OMIM:615683
HP:0000718	Aggressive behavior	139411	PTCHD1	OMIM:300830
HP:0000718	Aggressive behavior	55180	LINS1	OMIM:614340
HP:0000718	Aggressive behavior	6711	SPTBN1	OMIM:619475
HP:0000718	Aggressive behavior	81562	LMAN2L	OMIM:616887
HP:0000718	Aggressive behavior	163786	SASS6	OMIM:616402
HP:0000718	Aggressive behavior	7204	TRIO	OMIM:618825
HP:0000718	Aggressive behavior	7204	TRIO	OMIM:617061
HP:0000718	Aggressive behavior	7204	TRIO	ORPHA:476126
HP:0000718	Aggressive behavior	131669	UROC1	OMIM:276880
HP:0000718	Aggressive behavior	23040	MYT1L	OMIM:616521
HP:0000718	Aggressive behavior	9968	MED12	OMIM:309520
HP:0000718	Aggressive behavior	6925	TCF4	ORPHA:2896
HP:0000718	Aggressive behavior	162417	NAGS	OMIM:237310
HP:0000718	Aggressive behavior	7343	UBTF	ORPHA:500180
HP:0000718	Aggressive behavior	63932	STEEP1	OMIM:301013
HP:0000718	Aggressive behavior	4841	NONO	OMIM:300967
HP:0000718	Aggressive behavior	4841	NONO	ORPHA:466791
HP:0000718	Aggressive behavior	6472	SHMT2	OMIM:619121
HP:0000718	Aggressive behavior	91875	TTC5	OMIM:619244
HP:0000718	Aggressive behavior	51473	DCDC2	ORPHA:84081
HP:0000718	Aggressive behavior	91147	TMEM67	ORPHA:84081
HP:0000718	Aggressive behavior	23096	IQSEC2	OMIM:309530
HP:0000718	Aggressive behavior	6853	SYN1	ORPHA:85294
HP:0000718	Aggressive behavior	6853	SYN1	OMIM:300491
HP:0000718	Aggressive behavior	5625	PRODH	OMIM:239500
HP:0000718	Aggressive behavior	2799	GNS	OMIM:252940
HP:0000718	Aggressive behavior	9759	HDAC4	OMIM:600430
HP:0000718	Aggressive behavior	25978	CHMP2B	OMIM:600795
HP:0000718	Aggressive behavior	25978	CHMP2B	ORPHA:275864
HP:0000718	Aggressive behavior	9320	TRIP12	OMIM:617752
HP:0000718	Aggressive behavior	5528	PPP2R5D	ORPHA:457279
HP:0000718	Aggressive behavior	4781	NFIB	OMIM:618286
HP:0000718	Aggressive behavior	55023	PHIP	OMIM:617991
HP:0000718	Aggressive behavior	51780	KDM3B	OMIM:618846
HP:0000718	Aggressive behavior	10079	ATP9A	OMIM:620242
HP:0000718	Aggressive behavior	1893	ECM1	OMIM:247100
HP:0000718	Aggressive behavior	1968	EIF2S3	OMIM:300148
HP:0000718	Aggressive behavior	27161	AGO2	OMIM:619149
HP:0000718	Aggressive behavior	3832	KIF11	OMIM:152950
HP:0000718	Aggressive behavior	7305	TYROBP	OMIM:221770
HP:0000718	Aggressive behavior	1806	DPYD	ORPHA:293948
HP:0000718	Aggressive behavior	341208	HEPHL1	OMIM:261990
HP:0000718	Aggressive behavior	2328	FMO3	ORPHA:468726
HP:0000718	Aggressive behavior	55367	PIDD1	OMIM:619827
HP:0000718	Aggressive behavior	5663	PSEN1	ORPHA:275864
HP:0000718	Aggressive behavior	2896	GRN	ORPHA:275864
HP:0000718	Aggressive behavior	54664	TMEM106B	ORPHA:275864
HP:0000718	Aggressive behavior	8878	SQSTM1	ORPHA:275864
HP:0000718	Aggressive behavior	4137	MAPT	ORPHA:275864
HP:0000718	Aggressive behavior	54209	TREM2	ORPHA:275864
HP:0000718	Aggressive behavior	7415	VCP	ORPHA:275864
HP:0000718	Aggressive behavior	4669	NAGLU	OMIM:252920
HP:0000719	Inappropriate behavior	55367	PIDD1	OMIM:619827
HP:0000719	Inappropriate behavior	25978	CHMP2B	ORPHA:275864
HP:0000719	Inappropriate behavior	25978	CHMP2B	OMIM:600795
HP:0000719	Inappropriate behavior	5663	PSEN1	ORPHA:275864
HP:0000719	Inappropriate behavior	2896	GRN	ORPHA:275864
HP:0000719	Inappropriate behavior	54664	TMEM106B	ORPHA:275864
HP:0000719	Inappropriate behavior	8878	SQSTM1	ORPHA:275864
HP:0000719	Inappropriate behavior	4137	MAPT	ORPHA:275864
HP:0000719	Inappropriate behavior	54209	TREM2	ORPHA:275864
HP:0000719	Inappropriate behavior	7415	VCP	ORPHA:275864
HP:0000719	Inappropriate behavior	2760	GM2A	ORPHA:309246
HP:0000719	Inappropriate behavior	7305	TYROBP	OMIM:221770
HP:0000719	Inappropriate behavior	1639	DCTN1	OMIM:168605
HP:0000719	Inappropriate behavior	5575	PRKAR1B	ORPHA:412066
HP:0000719	Inappropriate behavior	2778	GNAS	ORPHA:562
HP:0000719	Inappropriate behavior	540	ATP7B	ORPHA:905
HP:0000719	Inappropriate behavior	6999	TDO2	OMIM:600627
HP:0000719	Inappropriate behavior	79796	ALG9	ORPHA:79328
HP:0000719	Inappropriate behavior	23096	IQSEC2	ORPHA:397933
HP:0000719	Inappropriate behavior	6792	CDKL5	ORPHA:3095
HP:0000719	Inappropriate behavior	22854	NTNG1	ORPHA:3095
HP:0000719	Inappropriate behavior	9568	GABBR2	ORPHA:3095
HP:0000719	Inappropriate behavior	9568	GABBR2	OMIM:617903
HP:0000719	Inappropriate behavior	4204	MECP2	ORPHA:3095
HP:0000719	Inappropriate behavior	8243	SMC1A	ORPHA:3095
HP:0000719	Inappropriate behavior	29968	PSAT1	ORPHA:284417
HP:0000719	Inappropriate behavior	56992	KIF15	ORPHA:261323
HP:0000719	Inappropriate behavior	80704	SLC19A3	ORPHA:263410
HP:0000719	Inappropriate behavior	23102	TBC1D2B	OMIM:619323
HP:0000719	Inappropriate behavior	94005	PIGS	OMIM:618143
HP:0000719	Inappropriate behavior	54914	FOCAD	OMIM:619991
HP:0000719	Inappropriate behavior	2290	FOXG1	OMIM:613454
HP:0000719	Inappropriate behavior	26227	PHGDH	ORPHA:79351
HP:0000719	Inappropriate behavior	2581	GALC	ORPHA:206436
HP:0000719	Inappropriate behavior	5660	PSAP	ORPHA:206436
HP:0000719	Inappropriate behavior	6571	SLC18A2	ORPHA:352649
HP:0000719	Inappropriate behavior	23230	VPS13A	ORPHA:2388
HP:0010931	Abnormal blood sodium concentration	83483	PLVAP	OMIM:618183
HP:0010931	Abnormal blood sodium concentration	1497	CTNS	OMIM:219800
HP:0010931	Abnormal blood sodium concentration	1497	CTNS	ORPHA:411634
HP:0010931	Abnormal blood sodium concentration	7809	BSND	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	7809	BSND	OMIM:602522
HP:0010931	Abnormal blood sodium concentration	1188	CLCNKB	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	1188	CLCNKB	OMIM:613090
HP:0010931	Abnormal blood sodium concentration	1187	CLCNKA	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	1187	CLCNKA	OMIM:613090
HP:0010931	Abnormal blood sodium concentration	5076	PAX2	ORPHA:97362
HP:0010931	Abnormal blood sodium concentration	5087	PBX1	ORPHA:97362
HP:0010931	Abnormal blood sodium concentration	4791	NFKB2	ORPHA:293978
HP:0010931	Abnormal blood sodium concentration	5447	POR	OMIM:201750
HP:0010931	Abnormal blood sodium concentration	54809	SAMD9	OMIM:617053
HP:0010931	Abnormal blood sodium concentration	54914	FOCAD	OMIM:619991
HP:0010931	Abnormal blood sodium concentration	8518	ELP1	ORPHA:1764
HP:0010931	Abnormal blood sodium concentration	8021	NUP214	OMIM:618426
HP:0010931	Abnormal blood sodium concentration	10102	TSFM	OMIM:610505
HP:0010931	Abnormal blood sodium concentration	5551	PRF1	OMIM:603553
HP:0010931	Abnormal blood sodium concentration	190	NR0B1	OMIM:300200
HP:0010931	Abnormal blood sodium concentration	6340	SCNN1G	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6340	SCNN1G	OMIM:620126
HP:0010931	Abnormal blood sodium concentration	6337	SCNN1A	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6337	SCNN1A	OMIM:264350
HP:0010931	Abnormal blood sodium concentration	6338	SCNN1B	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6338	SCNN1B	OMIM:620125
HP:0010931	Abnormal blood sodium concentration	4306	NR3C2	OMIM:177735
HP:0010931	Abnormal blood sodium concentration	1811	SLC26A3	OMIM:214700
HP:0010931	Abnormal blood sodium concentration	29072	SETD2	OMIM:620157
HP:0010931	Abnormal blood sodium concentration	29072	SETD2	OMIM:620155
HP:0010931	Abnormal blood sodium concentration	3662	IRF4	ORPHA:3452
HP:0010931	Abnormal blood sodium concentration	471	ATIC	OMIM:608688
HP:0010931	Abnormal blood sodium concentration	3284	HSD3B2	ORPHA:90791
HP:0010931	Abnormal blood sodium concentration	3284	HSD3B2	OMIM:201810
HP:0010931	Abnormal blood sodium concentration	4952	OCRL	ORPHA:534
HP:0010931	Abnormal blood sodium concentration	199221	DZIP1L	ORPHA:731
HP:0010931	Abnormal blood sodium concentration	5314	PKHD1	ORPHA:731
HP:0010931	Abnormal blood sodium concentration	771	CA12	OMIM:143860
HP:0010931	Abnormal blood sodium concentration	58528	RRAGD	OMIM:620152
HP:0010931	Abnormal blood sodium concentration	10916	MAGED2	OMIM:300971
HP:0010931	Abnormal blood sodium concentration	9095	TBX19	ORPHA:199296
HP:0010931	Abnormal blood sodium concentration	210	ALAD	ORPHA:100924
HP:0010931	Abnormal blood sodium concentration	554	AVPR2	OMIM:300539
HP:0010931	Abnormal blood sodium concentration	1583	CYP11A1	ORPHA:168558
HP:0010931	Abnormal blood sodium concentration	1583	CYP11A1	ORPHA:289548
HP:0010931	Abnormal blood sodium concentration	50628	GEMIN4	OMIM:617913
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	OMIM:203400
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	OMIM:610600
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	ORPHA:556030
HP:0010931	Abnormal blood sodium concentration	51567	TDP2	OMIM:616949
HP:0010931	Abnormal blood sodium concentration	79087	ALG12	ORPHA:79324
HP:0010931	Abnormal blood sodium concentration	9451	EIF2AK3	ORPHA:1667
HP:0010931	Abnormal blood sodium concentration	79053	ALG8	ORPHA:79325
HP:0010931	Abnormal blood sodium concentration	1130	LYST	ORPHA:167
HP:0010931	Abnormal blood sodium concentration	56246	MRAP	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	6770	STAR	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	4158	MC2R	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	23530	NNT	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	23530	NNT	OMIM:614736
HP:0010931	Abnormal blood sodium concentration	10587	TXNRD2	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	6329	SCN4A	ORPHA:682
HP:0010931	Abnormal blood sodium concentration	4714	NDUFB8	OMIM:618252
HP:0010931	Abnormal blood sodium concentration	1371	CPOX	ORPHA:79273
HP:0010931	Abnormal blood sodium concentration	5498	PPOX	ORPHA:79473
HP:0010931	Abnormal blood sodium concentration	54938	SARS2	OMIM:613845
HP:0010931	Abnormal blood sodium concentration	3145	HMBS	ORPHA:79276
HP:0010931	Abnormal blood sodium concentration	7187	TRAF3	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	81622	UNC93B1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	148022	TICAM1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	7098	TLR3	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	29110	TBK1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	6850	SYK	OMIM:619381
HP:0010931	Abnormal blood sodium concentration	359	AQP2	ORPHA:223
HP:0010931	Abnormal blood sodium concentration	359	AQP2	OMIM:125800
HP:0010931	Abnormal blood sodium concentration	2260	FGFR1	OMIM:615465
HP:0010931	Abnormal blood sodium concentration	763	CA5A	OMIM:615751
HP:0010931	Abnormal blood sodium concentration	1828	DSG1	OMIM:615508
HP:0010931	Abnormal blood sodium concentration	9915	ARNT2	OMIM:615926
HP:0010931	Abnormal blood sodium concentration	6523	SLC5A1	ORPHA:35710
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	ORPHA:510
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	OMIM:300322
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	OMIM:300323
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	ORPHA:79233
HP:0010932	Abnormal circulating nucleobase concentration	3155	HMGCL	ORPHA:20
HP:0010932	Abnormal circulating nucleobase concentration	3155	HMGCL	OMIM:246450
HP:0010932	Abnormal circulating nucleobase concentration	25970	SH2B1	ORPHA:261222
HP:0010932	Abnormal circulating nucleobase concentration	5972	REN	OMIM:613092
HP:0010932	Abnormal circulating nucleobase concentration	229	ALDOB	OMIM:229600
HP:0010932	Abnormal circulating nucleobase concentration	229	ALDOB	ORPHA:469
HP:0010932	Abnormal circulating nucleobase concentration	29927	SEC61A1	OMIM:617056
HP:0010932	Abnormal circulating nucleobase concentration	5836	PYGL	OMIM:232700
HP:0010932	Abnormal circulating nucleobase concentration	6928	HNF1B	ORPHA:93111
HP:0010932	Abnormal circulating nucleobase concentration	6928	HNF1B	OMIM:137920
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	OMIM:232220
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	ORPHA:79259
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	OMIM:232240
HP:0010932	Abnormal circulating nucleobase concentration	2203	FBP1	ORPHA:348
HP:0010932	Abnormal circulating nucleobase concentration	4609	MYC	ORPHA:543
HP:0010932	Abnormal circulating nucleobase concentration	5468	PPARG	OMIM:604367
HP:0010932	Abnormal circulating nucleobase concentration	5468	PPARG	ORPHA:79083
HP:0010932	Abnormal circulating nucleobase concentration	3998	LMAN1	ORPHA:35909
HP:0010932	Abnormal circulating nucleobase concentration	90411	MCFD2	ORPHA:35909
HP:0010932	Abnormal circulating nucleobase concentration	4982	TNFRSF11B	ORPHA:2801
HP:0010932	Abnormal circulating nucleobase concentration	4982	TNFRSF11B	OMIM:239000
HP:0010932	Abnormal circulating nucleobase concentration	8792	TNFRSF11A	ORPHA:2801
HP:0010932	Abnormal circulating nucleobase concentration	10686	CLDN16	OMIM:248250
HP:0010932	Abnormal circulating nucleobase concentration	38	ACAT1	ORPHA:134
HP:0010932	Abnormal circulating nucleobase concentration	5213	PFKM	ORPHA:371
HP:0010932	Abnormal circulating nucleobase concentration	5213	PFKM	OMIM:232800
HP:0010932	Abnormal circulating nucleobase concentration	7369	UMOD	OMIM:162000
HP:0010932	Abnormal circulating nucleobase concentration	2538	G6PC1	OMIM:232200
HP:0010932	Abnormal circulating nucleobase concentration	5837	PYGM	OMIM:232600
HP:0010932	Abnormal circulating nucleobase concentration	7840	ALMS1	OMIM:203800
HP:0010932	Abnormal circulating nucleobase concentration	5257	PHKB	OMIM:261750
HP:0010932	Abnormal circulating nucleobase concentration	4582	MUC1	OMIM:174000
HP:0010932	Abnormal circulating nucleobase concentration	5256	PHKA2	OMIM:306000
HP:0010932	Abnormal circulating nucleobase concentration	54938	SARS2	OMIM:613845
HP:0010932	Abnormal circulating nucleobase concentration	116085	SLC22A12	OMIM:220150
HP:0010932	Abnormal circulating nucleobase concentration	116085	SLC22A12	ORPHA:94088
HP:0010932	Abnormal circulating nucleobase concentration	6514	SLC2A2	OMIM:227810
HP:0010932	Abnormal circulating nucleobase concentration	56606	SLC2A9	OMIM:612076
HP:0010932	Abnormal circulating nucleobase concentration	56606	SLC2A9	ORPHA:94088
HP:0010932	Abnormal circulating nucleobase concentration	10243	GPHN	OMIM:615501
HP:0010932	Abnormal circulating nucleobase concentration	4337	MOCS1	OMIM:252150
HP:0010932	Abnormal circulating nucleobase concentration	3172	HNF4A	OMIM:616026
HP:0010932	Abnormal circulating nucleobase concentration	4338	MOCS2	OMIM:252160
HP:0010932	Abnormal circulating nucleobase concentration	5631	PRPS1	ORPHA:1187
HP:0010932	Abnormal circulating nucleobase concentration	1497	CTNS	ORPHA:411634
HP:0010932	Abnormal circulating nucleobase concentration	540	ATP7B	OMIM:277900
HP:0010932	Abnormal circulating nucleobase concentration	1962	EHHADH	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	2628	GATM	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	137682	NDUFAF6	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	6569	SLC34A1	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	7498	XDH	OMIM:278300
HP:0010932	Abnormal circulating nucleobase concentration	55034	MOCOS	OMIM:603592
HP:0010932	Abnormal circulating nucleobase concentration	5009	OTC	OMIM:311250
HP:0010932	Abnormal circulating nucleobase concentration	4860	PNP	OMIM:613179
HP:0010932	Abnormal circulating nucleobase concentration	1890	TYMP	OMIM:603041
HP:0010932	Abnormal circulating nucleobase concentration	5428	POLG	OMIM:603041
HP:0010932	Abnormal circulating nucleobase concentration	1807	DPYS	OMIM:222748
HP:0010933	Hyperxanthinemia	7498	XDH	OMIM:278300
HP:0010933	Hyperxanthinemia	55034	MOCOS	OMIM:603592
HP:0010934	Xanthinuria	7498	XDH	OMIM:278300
HP:0010934	Xanthinuria	4337	MOCS1	OMIM:252150
HP:0010934	Xanthinuria	4338	MOCS2	OMIM:252160
HP:0010934	Xanthinuria	55034	MOCOS	OMIM:603592
HP:0010935	Abnormality of the upper urinary tract	49855	SCAPER	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	51057	WDPCP	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	84984	CEP19	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	583	BBS2	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	55212	BBS7	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	129880	BBS5	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	80173	IFT74	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	7473	WNT3	ORPHA:3301
HP:0010935	Abnormality of the upper urinary tract	340419	RSPO2	ORPHA:3301
HP:0010935	Abnormality of the upper urinary tract	11041	B4GAT1	OMIM:615287
HP:0010935	Abnormality of the upper urinary tract	23522	KAT6B	ORPHA:85201
HP:0010935	Abnormality of the upper urinary tract	23522	KAT6B	OMIM:606170
HP:0010935	Abnormality of the upper urinary tract	151188	ARL6IP6	ORPHA:1556
HP:0010935	Abnormality of the upper urinary tract	139285	AMER1	OMIM:300373
HP:0010935	Abnormality of the upper urinary tract	3978	LIG1	OMIM:619774
HP:0010935	Abnormality of the upper urinary tract	64359	NXN	ORPHA:1507
HP:0010935	Abnormality of the upper urinary tract	7020	TFAP2A	ORPHA:1297
HP:0010935	Abnormality of the upper urinary tract	55670	PEX26	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	8799	PEX11B	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	9409	PEX16	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	5195	PEX14	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	5192	PEX10	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	2313	FLI1	ORPHA:2308
HP:0010935	Abnormality of the upper urinary tract	134701	RIPPLY2	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	10683	DLL3	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	3955	LFNG	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	84667	HES7	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	145873	MESP2	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	6794	STK11	OMIM:175200
HP:0010935	Abnormality of the upper urinary tract	6794	STK11	ORPHA:2869
HP:0010935	Abnormality of the upper urinary tract	7372	UMPS	ORPHA:30
HP:0010935	Abnormality of the upper urinary tract	2314	FLII	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	23096	IQSEC2	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	10743	RAI1	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	10522	DEAF1	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	5818	NECTIN1	ORPHA:3253
HP:0010935	Abnormality of the upper urinary tract	5190	PEX6	OMIM:614863
HP:0010935	Abnormality of the upper urinary tract	10982	MAPRE2	OMIM:616734
HP:0010935	Abnormality of the upper urinary tract	6792	CDKL5	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	3736	KCNA1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2775	GNAO1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2902	GRIN1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	79751	SLC25A22	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	150094	SIK1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	8573	CASK	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	23312	DMXL2	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2917	GRM7	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	170302	ARX	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	11284	PNKP	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	6326	SCN2A	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	51227	PIGP	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	6324	SCN1B	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	4761	NEUROD2	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	1009	CDH11	ORPHA:1299
HP:0010935	Abnormality of the upper urinary tract	5337	PLD1	OMIM:212093
HP:0010935	Abnormality of the upper urinary tract	9653	HS2ST1	OMIM:619194
HP:0010935	Abnormality of the upper urinary tract	2294	FOXF1	OMIM:265380
HP:0010935	Abnormality of the upper urinary tract	4638	MYLK	OMIM:249210
HP:0010935	Abnormality of the upper urinary tract	4638	MYLK	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	51604	PIGT	OMIM:615398
HP:0010935	Abnormality of the upper urinary tract	1909	EDNRA	OMIM:616367
HP:0010935	Abnormality of the upper urinary tract	8195	MKKS	OMIM:236700
HP:0010935	Abnormality of the upper urinary tract	51715	RAB23	OMIM:201000
HP:0010935	Abnormality of the upper urinary tract	25802	LMOD1	OMIM:619362
HP:0010935	Abnormality of the upper urinary tract	25802	LMOD1	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	4629	MYH11	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	56975	FAM20C	OMIM:259775
HP:0010935	Abnormality of the upper urinary tract	64321	SOX17	OMIM:613674
HP:0010935	Abnormality of the upper urinary tract	71	ACTG1	ORPHA:2995
HP:0010935	Abnormality of the upper urinary tract	60	ACTB	ORPHA:2995
HP:0010935	Abnormality of the upper urinary tract	7466	WFS1	OMIM:222300
HP:0010935	Abnormality of the upper urinary tract	166379	BBS12	OMIM:615989
HP:0010935	Abnormality of the upper urinary tract	6655	SOS2	OMIM:616559
HP:0010935	Abnormality of the upper urinary tract	26040	SETBP1	OMIM:269150
HP:0010935	Abnormality of the upper urinary tract	8312	AXIN1	OMIM:607864
HP:0010935	Abnormality of the upper urinary tract	2239	GPC4	ORPHA:373
HP:0010935	Abnormality of the upper urinary tract	2719	GPC3	ORPHA:373
HP:0010935	Abnormality of the upper urinary tract	388662	SLC6A17	ORPHA:457212
HP:0010935	Abnormality of the upper urinary tract	10269	ZMPSTE24	ORPHA:1662
HP:0010935	Abnormality of the upper urinary tract	10269	ZMPSTE24	OMIM:275210
HP:0010935	Abnormality of the upper urinary tract	2627	GATA6	ORPHA:2255
HP:0010935	Abnormality of the upper urinary tract	2627	GATA6	OMIM:600001
HP:0010935	Abnormality of the upper urinary tract	10653	SPINT2	OMIM:270420
HP:0010935	Abnormality of the upper urinary tract	84314	TMEM107	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79867	TCTN2	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	80776	B9D2	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79600	TCTN1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	57096	RPGRIP1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79770	TXNDC15	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	27077	B9D1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	54903	MKS1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	6654	SOS1	OMIM:610733
HP:0010935	Abnormality of the upper urinary tract	7528	YY1	ORPHA:506358
HP:0010935	Abnormality of the upper urinary tract	7528	YY1	OMIM:617557
HP:0010935	Abnormality of the upper urinary tract	7355	SLC35A2	OMIM:300896
HP:0010935	Abnormality of the upper urinary tract	2972	BRF1	ORPHA:444072
HP:0010935	Abnormality of the upper urinary tract	7750	ZMYM2	OMIM:619522
HP:0010935	Abnormality of the upper urinary tract	2782	GNB1	OMIM:616973
HP:0010935	Abnormality of the upper urinary tract	10861	SLC26A1	OMIM:167030
HP:0010935	Abnormality of the upper urinary tract	3655	ITGA6	ORPHA:79403
HP:0010935	Abnormality of the upper urinary tract	4920	ROR2	OMIM:268310
HP:0010935	Abnormality of the upper urinary tract	7474	WNT5A	OMIM:180700
HP:0010935	Abnormality of the upper urinary tract	1855	DVL1	OMIM:180700
HP:0010935	Abnormality of the upper urinary tract	10617	STAMBP	OMIM:614261
HP:0010935	Abnormality of the upper urinary tract	8294	H4C9	OMIM:619951
HP:0010935	Abnormality of the upper urinary tract	26128	KIFBP	OMIM:609460
HP:0010935	Abnormality of the upper urinary tract	23556	PIGN	ORPHA:2059
HP:0010935	Abnormality of the upper urinary tract	23556	PIGN	OMIM:614080
HP:0010935	Abnormality of the upper urinary tract	5361	PLXNA1	OMIM:619955
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	ORPHA:453504
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	OMIM:616580
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	ORPHA:352665
HP:0010935	Abnormality of the upper urinary tract	4281	MID1	OMIM:300000
HP:0010935	Abnormality of the upper urinary tract	4281	MID1	ORPHA:2745
HP:0010935	Abnormality of the upper urinary tract	51506	UFC1	OMIM:618076
HP:0010935	Abnormality of the upper urinary tract	72	ACTG2	ORPHA:2604
HP:0010935	Abnormality of the upper urinary tract	72	ACTG2	OMIM:155310
HP:0010935	Abnormality of the upper urinary tract	9915	ARNT2	OMIM:615926
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	ORPHA:363958
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	ORPHA:363965
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	OMIM:610443
HP:0010935	Abnormality of the upper urinary tract	1136	CHRNA3	OMIM:191800
HP:0010935	Abnormality of the upper urinary tract	10616	RBCK1	OMIM:615895
HP:0010935	Abnormality of the upper urinary tract	7080	NKX2-1	ORPHA:209905
HP:0010935	Abnormality of the upper urinary tract	3670	ISL1	ORPHA:93930
HP:0010935	Abnormality of the upper urinary tract	1656	DDX6	OMIM:618653
HP:0010935	Abnormality of the upper urinary tract	5718	PSMD12	ORPHA:529962
HP:0010935	Abnormality of the upper urinary tract	2186	BPTF	ORPHA:529962
HP:0010935	Abnormality of the upper urinary tract	57178	ZMIZ1	OMIM:618659
HP:0010935	Abnormality of the upper urinary tract	8550	MAPKAPK5	OMIM:619869
HP:0010935	Abnormality of the upper urinary tract	5062	PAK2	ORPHA:1571
HP:0010935	Abnormality of the upper urinary tract	253738	EBF3	OMIM:617330
HP:0010935	Abnormality of the upper urinary tract	5530	PPP3CA	OMIM:618265
HP:0010935	Abnormality of the upper urinary tract	9091	PIGQ	OMIM:618548
HP:0010935	Abnormality of the upper urinary tract	84720	PIGO	OMIM:614749
HP:0010935	Abnormality of the upper urinary tract	8405	SPOP	OMIM:618828
HP:0010935	Abnormality of the upper urinary tract	2131	EXT1	ORPHA:502
HP:0010935	Abnormality of the upper urinary tract	7227	TRPS1	ORPHA:502
HP:0010935	Abnormality of the upper urinary tract	8318	CDC45	OMIM:617063
HP:0010935	Abnormality of the upper urinary tract	253959	RALGAPA1	OMIM:618797
HP:0010935	Abnormality of the upper urinary tract	1857	DVL3	OMIM:616894
HP:0010935	Abnormality of the upper urinary tract	2316	FLNA	ORPHA:2484
HP:0010935	Abnormality of the upper urinary tract	11128	POLR3A	ORPHA:3455
HP:0010935	Abnormality of the upper urinary tract	1028	CDKN1C	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	3481	IGF2	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	3784	KCNQ1	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	644096	SDHAF1	ORPHA:3208
HP:0010935	Abnormality of the upper urinary tract	4052	LTBP1	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	30008	EFEMP2	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	10516	FBLN5	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	9276	COPB2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	11113	CIT	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	22995	CEP152	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	284403	WDR62	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	55262	TRAPPC14	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	163786	SASS6	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	29920	PYCR2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	84879	MFSD2A	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	4176	MCM7	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	80254	CEP63	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	29081	METTL5	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	23310	NCAPD3	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	55755	CDK5RAP2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	79648	MCPH1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	6491	STIL	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	23141	ANKLE2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	259266	ASPM	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	7109	TRAPPC10	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	1911	PHC1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	6884	TAF13	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	9662	CEP135	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	55835	CENPJ	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	57082	KNL1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	1021	CDK6	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	171023	ASXL1	OMIM:605039
HP:0010935	Abnormality of the upper urinary tract	3767	KCNJ11	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	3767	KCNJ11	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	8462	KLF11	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	2645	GCK	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	26060	APPL1	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	640	BLK	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	1056	CEL	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	4760	NEUROD1	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	3651	PDX1	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	6833	ABCC8	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	6833	ABCC8	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	5078	PAX4	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	3172	HNF4A	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	6927	HNF1A	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	3630	INS	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	25970	SH2B1	ORPHA:261222
HP:0010935	Abnormality of the upper urinary tract	324	APC	ORPHA:261584
HP:0010935	Abnormality of the upper urinary tract	85358	SHANK3	OMIM:606232
HP:0010935	Abnormality of the upper urinary tract	9839	ZEB2	OMIM:235730
HP:0010935	Abnormality of the upper urinary tract	4758	NEU1	ORPHA:93399
HP:0010935	Abnormality of the upper urinary tract	4758	NEU1	ORPHA:93400
HP:0010935	Abnormality of the upper urinary tract	6888	TALDO1	ORPHA:101028
HP:0010935	Abnormality of the upper urinary tract	54968	TMEM70	ORPHA:1194
HP:0010935	Abnormality of the upper urinary tract	1723	DHODH	OMIM:263750
HP:0010935	Abnormality of the upper urinary tract	123016	TTC8	OMIM:613464
HP:0010935	Abnormality of the upper urinary tract	6812	STXBP1	ORPHA:495818
HP:0010935	Abnormality of the upper urinary tract	2033	EP300	ORPHA:353284
HP:0010935	Abnormality of the upper urinary tract	2132	EXT2	ORPHA:466926
HP:0010935	Abnormality of the upper urinary tract	346171	ZFP57	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	57061	HYMAI	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	5325	PLAGL1	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	79140	CCDC28B	OMIM:209900
HP:0010935	Abnormality of the upper urinary tract	582	BBS1	OMIM:209900
HP:0010935	Abnormality of the upper urinary tract	5566	PRKACA	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	5567	PRKACB	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	2735	GLI1	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	2121	EVC	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	132884	EVC2	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	10483	SEC23B	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	5728	PTEN	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	207	AKT1	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	205717	USF3	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	100144748	KLLN	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	9401	RECQL4	OMIM:218600
HP:0010935	Abnormality of the upper urinary tract	10815	CPLX1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	54872	PIGG	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	7469	NELFA	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	1487	CTBP1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	3954	LETM1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	7468	NSD2	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	92949	ADAMTSL1	ORPHA:521445
HP:0010935	Abnormality of the upper urinary tract	6638	SNRPN	ORPHA:177907
HP:0010935	Abnormality of the upper urinary tract	392255	GDF6	OMIM:118100
HP:0010935	Abnormality of the upper urinary tract	2321	FLT1	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	219736	STOX1	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	10699	CORIN	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	5590	PRKCZ	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	2563	GABRD	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	23013	SPEN	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	8510	MMP23B	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	7798	LUZP1	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	6497	SKI	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	10630	PDPN	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	3339	HSPG2	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	10277	UBE4B	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	8514	KCNAB2	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	473	RERE	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	63976	PRDM16	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	54897	CASZ1	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	58508	KMT2C	ORPHA:261652
HP:0010935	Abnormality of the upper urinary tract	27086	FOXP1	ORPHA:391372
HP:0010935	Abnormality of the upper urinary tract	6288	SAA1	ORPHA:85445
HP:0010935	Abnormality of the upper urinary tract	91949	COG7	ORPHA:79333
HP:0010935	Abnormality of the upper urinary tract	4286	MITF	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	7299	TYR	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	6591	SNAI2	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	1910	EDNRB	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	4254	KITLG	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	6663	SOX10	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	4854	NOTCH3	ORPHA:2591
HP:0010935	Abnormality of the upper urinary tract	5159	PDGFRB	ORPHA:2591
HP:0010935	Abnormality of the upper urinary tract	1387	CREBBP	ORPHA:353277
HP:0010935	Abnormality of the upper urinary tract	5836	PYGL	ORPHA:369
HP:0010935	Abnormality of the upper urinary tract	10736	SIX2	ORPHA:488437
HP:0010935	Abnormality of the upper urinary tract	585	BBS4	OMIM:615982
HP:0010935	Abnormality of the upper urinary tract	55315	SLC29A3	ORPHA:168569
HP:0010935	Abnormality of the upper urinary tract	22954	TRIM32	OMIM:615988
HP:0010935	Abnormality of the upper urinary tract	1801	DPH1	ORPHA:459061
HP:0010935	Abnormality of the upper urinary tract	8036	SHOC2	OMIM:607721
HP:0010935	Abnormality of the upper urinary tract	3376	IARS1	OMIM:617093
HP:0010935	Abnormality of the upper urinary tract	3376	IARS1	ORPHA:541423
HP:0010935	Abnormality of the upper urinary tract	23126	POGZ	OMIM:616364
HP:0010935	Abnormality of the upper urinary tract	23126	POGZ	ORPHA:468678
HP:0010935	Abnormality of the upper urinary tract	9487	PIGL	OMIM:280000
HP:0010935	Abnormality of the upper urinary tract	9894	TELO2	ORPHA:488642
HP:0010935	Abnormality of the upper urinary tract	8626	TP63	OMIM:604292
HP:0010935	Abnormality of the upper urinary tract	55593	OTUD5	OMIM:301056
HP:0010935	Abnormality of the upper urinary tract	80781	COL18A1	OMIM:267750
HP:0010935	Abnormality of the upper urinary tract	3909	LAMA3	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	3918	LAMC2	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	3914	LAMB3	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	5700	PSMC1	OMIM:620071
HP:0010935	Abnormality of the upper urinary tract	5594	MAPK1	OMIM:619087
HP:0010935	Abnormality of the upper urinary tract	7148	TNXB	OMIM:615963
HP:0010935	Abnormality of the upper urinary tract	8085	KMT2D	ORPHA:2322
HP:0010935	Abnormality of the upper urinary tract	26191	PTPN22	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	26191	PTPN22	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:36426
HP:0010935	Abnormality of the upper urinary tract	3123	HLA-DRB1	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	3123	HLA-DRB1	ORPHA:797
HP:0010935	Abnormality of the upper urinary tract	3123	HLA-DRB1	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	8974	P4HA2	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	51726	DNAJB11	OMIM:618061
HP:0010935	Abnormality of the upper urinary tract	51726	DNAJB11	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	4594	MMUT	ORPHA:289916
HP:0010935	Abnormality of the upper urinary tract	4594	MMUT	ORPHA:79312
HP:0010935	Abnormality of the upper urinary tract	1497	CTNS	OMIM:219800
HP:0010935	Abnormality of the upper urinary tract	1497	CTNS	ORPHA:411634
HP:0010935	Abnormality of the upper urinary tract	355	FAS	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	355	FAS	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	356	FASLG	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	5580	PRKCD	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	843	CASP10	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	10125	RASGRP1	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	9860	LRIG2	OMIM:615112
HP:0010935	Abnormality of the upper urinary tract	9860	LRIG2	ORPHA:2704
HP:0010935	Abnormality of the upper urinary tract	8518	ELP1	ORPHA:1764
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	ORPHA:2613
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	ORPHA:2614
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	OMIM:161200
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	OMIM:256020
HP:0010935	Abnormality of the upper urinary tract	5631	PRPS1	ORPHA:411543
HP:0010935	Abnormality of the upper urinary tract	5631	PRPS1	ORPHA:411536
HP:0010935	Abnormality of the upper urinary tract	5631	PRPS1	OMIM:300661
HP:0010935	Abnormality of the upper urinary tract	3209	HOXA13	OMIM:140000
HP:0010935	Abnormality of the upper urinary tract	84942	WDR73	OMIM:251300
HP:0010935	Abnormality of the upper urinary tract	84942	WDR73	ORPHA:83472
HP:0010935	Abnormality of the upper urinary tract	1131	CHRM3	ORPHA:2970
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:308990
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:300009
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:300554
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:310468
HP:0010935	Abnormality of the upper urinary tract	81839	VANGL1	ORPHA:3027
HP:0010935	Abnormality of the upper urinary tract	80199	FUZ	ORPHA:3027
HP:0010935	Abnormality of the upper urinary tract	2072	ERCC4	ORPHA:90321
HP:0010935	Abnormality of the upper urinary tract	2072	ERCC4	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2072	ERCC4	OMIM:610965
HP:0010935	Abnormality of the upper urinary tract	4867	NPHP1	OMIM:609583
HP:0010935	Abnormality of the upper urinary tract	4867	NPHP1	OMIM:266900
HP:0010935	Abnormality of the upper urinary tract	4867	NPHP1	ORPHA:220497
HP:0010935	Abnormality of the upper urinary tract	64324	NSD1	ORPHA:821
HP:0010935	Abnormality of the upper urinary tract	29072	SETD2	ORPHA:821
HP:0010935	Abnormality of the upper urinary tract	10297	APC2	ORPHA:821
HP:0010935	Abnormality of the upper urinary tract	79848	CSPP1	ORPHA:397715
HP:0010935	Abnormality of the upper urinary tract	9786	KIAA0586	ORPHA:397715
HP:0010935	Abnormality of the upper urinary tract	11136	SLC7A9	OMIM:220100
HP:0010935	Abnormality of the upper urinary tract	6519	SLC3A1	OMIM:220100
HP:0010935	Abnormality of the upper urinary tract	23607	CD2AP	OMIM:607832
HP:0010935	Abnormality of the upper urinary tract	4312	MMP1	ORPHA:79408
HP:0010935	Abnormality of the upper urinary tract	1294	COL7A1	ORPHA:79408
HP:0010935	Abnormality of the upper urinary tract	79577	CDC73	ORPHA:143
HP:0010935	Abnormality of the upper urinary tract	79577	CDC73	ORPHA:99880
HP:0010935	Abnormality of the upper urinary tract	79577	CDC73	ORPHA:99879
HP:0010935	Abnormality of the upper urinary tract	4311	MME	ORPHA:69063
HP:0010935	Abnormality of the upper urinary tract	9380	GRHPR	OMIM:260000
HP:0010935	Abnormality of the upper urinary tract	9380	GRHPR	ORPHA:93599
HP:0010935	Abnormality of the upper urinary tract	23322	RPGRIP1L	ORPHA:220497
HP:0010935	Abnormality of the upper urinary tract	23322	RPGRIP1L	ORPHA:1454
HP:0010935	Abnormality of the upper urinary tract	23322	RPGRIP1L	OMIM:619113
HP:0010935	Abnormality of the upper urinary tract	65062	TMEM237	ORPHA:220497
HP:0010935	Abnormality of the upper urinary tract	65062	TMEM237	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	79947	DHDDS	OMIM:613861
HP:0010935	Abnormality of the upper urinary tract	9640	ZNF592	ORPHA:83472
HP:0010935	Abnormality of the upper urinary tract	6523	SLC5A1	ORPHA:35710
HP:0010935	Abnormality of the upper urinary tract	9382	COG1	OMIM:611209
HP:0010935	Abnormality of the upper urinary tract	4868	NPHS1	OMIM:256300
HP:0010935	Abnormality of the upper urinary tract	55034	MOCOS	OMIM:603592
HP:0010935	Abnormality of the upper urinary tract	23193	GANAB	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	5310	PKD1	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	5310	PKD1	OMIM:173900
HP:0010935	Abnormality of the upper urinary tract	5311	PKD2	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	5311	PKD2	OMIM:613095
HP:0010935	Abnormality of the upper urinary tract	29880	ALG5	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	29880	ALG5	OMIM:620056
HP:0010935	Abnormality of the upper urinary tract	9742	IFT140	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	9742	IFT140	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	79796	ALG9	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	80114	BICC1	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	80114	BICC1	OMIM:601331
HP:0010935	Abnormality of the upper urinary tract	9071	CLDN10	OMIM:617671
HP:0010935	Abnormality of the upper urinary tract	81693	AMN	OMIM:618882
HP:0010935	Abnormality of the upper urinary tract	3043	HBB	OMIM:603903
HP:0010935	Abnormality of the upper urinary tract	8029	CUBN	OMIM:618884
HP:0010935	Abnormality of the upper urinary tract	2859	GPR35	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	10507	SEMA4D	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	4485	MST1	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	6925	TCF4	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	54757	FAM20A	OMIM:204690
HP:0010935	Abnormality of the upper urinary tract	54757	FAM20A	ORPHA:1031
HP:0010935	Abnormality of the upper urinary tract	353	APRT	OMIM:614723
HP:0010935	Abnormality of the upper urinary tract	353	APRT	ORPHA:976
HP:0010935	Abnormality of the upper urinary tract	412	STS	ORPHA:281090
HP:0010935	Abnormality of the upper urinary tract	7840	ALMS1	OMIM:203800
HP:0010935	Abnormality of the upper urinary tract	672	BRCA1	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	10459	MAD2L2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	7516	XRCC2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	29089	UBE2T	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	675	BRCA2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2177	FANCD2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2175	FANCA	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2187	FANCB	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2176	FANCC	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2178	FANCE	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2189	FANCG	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	5888	RAD51	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	5889	RAD51C	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	83990	BRIP1	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	57697	FANCM	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	79728	PALB2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	84464	SLX4	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	1175	AP2S1	OMIM:600740
HP:0010935	Abnormality of the upper urinary tract	203286	ANKS6	OMIM:615382
HP:0010935	Abnormality of the upper urinary tract	5224	PGAM2	OMIM:261670
HP:0010935	Abnormality of the upper urinary tract	60495	HPSE2	ORPHA:2704
HP:0010935	Abnormality of the upper urinary tract	950	SCARB2	OMIM:254900
HP:0010935	Abnormality of the upper urinary tract	5230	PGK1	ORPHA:713
HP:0010935	Abnormality of the upper urinary tract	5230	PGK1	OMIM:300653
HP:0010935	Abnormality of the upper urinary tract	3265	HRAS	OMIM:218040
HP:0010935	Abnormality of the upper urinary tract	7490	WT1	OMIM:194072
HP:0010935	Abnormality of the upper urinary tract	7490	WT1	ORPHA:347
HP:0010935	Abnormality of the upper urinary tract	7490	WT1	OMIM:256370
HP:0010935	Abnormality of the upper urinary tract	5080	PAX6	OMIM:194072
HP:0010935	Abnormality of the upper urinary tract	54345	SOX18	OMIM:137940
HP:0010935	Abnormality of the upper urinary tract	26160	IFT172	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	51626	DYNC2LI1	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	79809	TTC21B	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	1187	CLCNKA	OMIM:613090
HP:0010935	Abnormality of the upper urinary tract	1188	CLCNKB	OMIM:613090
HP:0010935	Abnormality of the upper urinary tract	5314	PKHD1	OMIM:263200
HP:0010935	Abnormality of the upper urinary tract	5314	PKHD1	ORPHA:731
HP:0010935	Abnormality of the upper urinary tract	114548	NLRP3	OMIM:191900
HP:0010935	Abnormality of the upper urinary tract	10908	PNPLA6	ORPHA:2377
HP:0010935	Abnormality of the upper urinary tract	1282	COL4A1	ORPHA:73229
HP:0010935	Abnormality of the upper urinary tract	1282	COL4A1	OMIM:611773
HP:0010935	Abnormality of the upper urinary tract	718	C3	OMIM:613779
HP:0010935	Abnormality of the upper urinary tract	1493	CTLA4	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3115	HLA-DPB1	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	5657	PRTN3	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3113	HLA-DPA1	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	8659	ALDH4A1	ORPHA:79101
HP:0010935	Abnormality of the upper urinary tract	3675	ITGA3	OMIM:614748
HP:0010935	Abnormality of the upper urinary tract	4952	OCRL	OMIM:309000
HP:0010935	Abnormality of the upper urinary tract	4952	OCRL	ORPHA:534
HP:0010935	Abnormality of the upper urinary tract	4567	MT-TL1	ORPHA:225
HP:0010935	Abnormality of the upper urinary tract	4556	MT-TE	ORPHA:225
HP:0010935	Abnormality of the upper urinary tract	4566	MT-TK	ORPHA:225
HP:0010935	Abnormality of the upper urinary tract	2138	EYA1	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	147912	SIX5	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	147912	SIX5	OMIM:610896
HP:0010935	Abnormality of the upper urinary tract	6495	SIX1	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	229	ALDOB	ORPHA:469
HP:0010935	Abnormality of the upper urinary tract	56052	ALG1	ORPHA:79327
HP:0010935	Abnormality of the upper urinary tract	554	AVPR2	ORPHA:223
HP:0010935	Abnormality of the upper urinary tract	359	AQP2	ORPHA:223
HP:0010935	Abnormality of the upper urinary tract	3931	LCAT	OMIM:245900
HP:0010935	Abnormality of the upper urinary tract	3251	HPRT1	OMIM:300323
HP:0010935	Abnormality of the upper urinary tract	3251	HPRT1	ORPHA:79233
HP:0010935	Abnormality of the upper urinary tract	3251	HPRT1	ORPHA:510
HP:0010935	Abnormality of the upper urinary tract	57169	ZNFX1	OMIM:619644
HP:0010935	Abnormality of the upper urinary tract	92002	CCNQ	ORPHA:140952
HP:0010935	Abnormality of the upper urinary tract	23175	LPIN1	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	4512	MT-CO1	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	4514	MT-CO3	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	1962	EHHADH	OMIM:615605
HP:0010935	Abnormality of the upper urinary tract	9968	MED12	OMIM:301068
HP:0010935	Abnormality of the upper urinary tract	7369	UMOD	OMIM:162000
HP:0010935	Abnormality of the upper urinary tract	79989	IFT56	OMIM:619534
HP:0010935	Abnormality of the upper urinary tract	2717	GLA	OMIM:301500
HP:0010935	Abnormality of the upper urinary tract	2717	GLA	ORPHA:324
HP:0010935	Abnormality of the upper urinary tract	2625	GATA3	ORPHA:2237
HP:0010935	Abnormality of the upper urinary tract	54916	TMEM260	OMIM:617478
HP:0010935	Abnormality of the upper urinary tract	3458	IFNG	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	7248	TSC1	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	7249	TSC2	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	2184	FAH	OMIM:276700
HP:0010935	Abnormality of the upper urinary tract	2542	SLC37A4	OMIM:232240
HP:0010935	Abnormality of the upper urinary tract	286204	CRB2	OMIM:219730
HP:0010935	Abnormality of the upper urinary tract	4615	MYD88	ORPHA:33226
HP:0010935	Abnormality of the upper urinary tract	1376	CPT2	OMIM:255110
HP:0010935	Abnormality of the upper urinary tract	1376	CPT2	OMIM:608836
HP:0010935	Abnormality of the upper urinary tract	1376	CPT2	ORPHA:228302
HP:0010935	Abnormality of the upper urinary tract	1376	CPT2	ORPHA:228308
HP:0010935	Abnormality of the upper urinary tract	27241	BBS9	OMIM:615986
HP:0010935	Abnormality of the upper urinary tract	79738	BBS10	OMIM:615987
HP:0010935	Abnormality of the upper urinary tract	2934	GSN	OMIM:105120
HP:0010935	Abnormality of the upper urinary tract	149233	IL23R	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	6775	STAT4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	6775	STAT4	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	3586	IL10	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	4210	MEFV	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	4210	MEFV	OMIM:134610
HP:0010935	Abnormality of the upper urinary tract	1230	CCR1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3592	IL12A	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	101928376	IL12A-AS1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	7099	TLR4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3459	IFNGR1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	720	C4A	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	337867	UBAC2	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	51752	ERAP1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	8302	KLRC4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	80184	CEP290	OMIM:615991
HP:0010935	Abnormality of the upper urinary tract	80184	CEP290	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	92482	BBIP1	OMIM:615995
HP:0010935	Abnormality of the upper urinary tract	10806	SDCCAG8	OMIM:615993
HP:0010935	Abnormality of the upper urinary tract	51259	TMEM216	OMIM:608091
HP:0010935	Abnormality of the upper urinary tract	51259	TMEM216	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	3426	CFI	OMIM:610984
HP:0010935	Abnormality of the upper urinary tract	6696	SPP1	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	3654	IRAK1	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	79813	EHMT1	ORPHA:96147
HP:0010935	Abnormality of the upper urinary tract	1776	DNASE1L3	ORPHA:36412
HP:0010935	Abnormality of the upper urinary tract	81570	CLPB	ORPHA:445038
HP:0010935	Abnormality of the upper urinary tract	23729	SHPK	ORPHA:440713
HP:0010935	Abnormality of the upper urinary tract	3939	LDHA	OMIM:612933
HP:0010935	Abnormality of the upper urinary tract	1287	COL4A5	OMIM:301050
HP:0010935	Abnormality of the upper urinary tract	23005	MAPKBP1	OMIM:617271
HP:0010935	Abnormality of the upper urinary tract	10320	IKZF1	ORPHA:36426
HP:0010935	Abnormality of the upper urinary tract	486	FXYD2	OMIM:154020
HP:0010935	Abnormality of the upper urinary tract	1108	CHD4	OMIM:617159
HP:0010935	Abnormality of the upper urinary tract	4221	MEN1	ORPHA:99879
HP:0010935	Abnormality of the upper urinary tract	9247	GCM2	ORPHA:99879
HP:0010935	Abnormality of the upper urinary tract	79583	TMEM231	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	51524	TMEM138	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	23090	ZNF423	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	57545	CC2D2A	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	57545	CC2D2A	ORPHA:1454
HP:0010935	Abnormality of the upper urinary tract	5277	PIGA	ORPHA:447
HP:0010935	Abnormality of the upper urinary tract	3291	HSD11B2	ORPHA:320
HP:0010935	Abnormality of the upper urinary tract	7809	BSND	OMIM:602522
HP:0010935	Abnormality of the upper urinary tract	254428	SLC41A1	OMIM:619468
HP:0010935	Abnormality of the upper urinary tract	9451	EIF2AK3	OMIM:226980
HP:0010935	Abnormality of the upper urinary tract	9451	EIF2AK3	ORPHA:1667
HP:0010935	Abnormality of the upper urinary tract	56623	INPP5E	ORPHA:1454
HP:0010935	Abnormality of the upper urinary tract	27031	NPHP3	OMIM:604387
HP:0010935	Abnormality of the upper urinary tract	27031	NPHP3	OMIM:208540
HP:0010935	Abnormality of the upper urinary tract	151516	ASPRV1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	242	ALOX12B	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	126410	CYP4F22	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	6820	SULT2B1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	26154	ABCA12	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	643418	LIPN	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	59344	ALOXE3	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	348938	NIPAL4	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	121214	SDR9C7	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	7051	TGM1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	56244	BTNL2	ORPHA:797
HP:0010935	Abnormality of the upper urinary tract	23476	BRD4	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	9126	SMC3	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	8243	SMC1A	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	55869	HDAC8	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	4613	MYCN	ORPHA:391641
HP:0010935	Abnormality of the upper urinary tract	6338	SCNN1B	OMIM:177200
HP:0010935	Abnormality of the upper urinary tract	6338	SCNN1B	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	3975	LHX1	ORPHA:261265
HP:0010935	Abnormality of the upper urinary tract	4576	MT-TT	ORPHA:254857
HP:0010935	Abnormality of the upper urinary tract	1285	COL4A3	OMIM:203780
HP:0010935	Abnormality of the upper urinary tract	1285	COL4A3	OMIM:104200
HP:0010935	Abnormality of the upper urinary tract	1286	COL4A4	OMIM:203780
HP:0010935	Abnormality of the upper urinary tract	189	AGXT	OMIM:259900
HP:0010935	Abnormality of the upper urinary tract	3257	HPS1	OMIM:203300
HP:0010935	Abnormality of the upper urinary tract	54796	BNC2	ORPHA:93110
HP:0010935	Abnormality of the upper urinary tract	2335	FN1	ORPHA:84090
HP:0010935	Abnormality of the upper urinary tract	2335	FN1	OMIM:601894
HP:0010935	Abnormality of the upper urinary tract	23630	KCNE5	ORPHA:86818
HP:0010935	Abnormality of the upper urinary tract	2182	ACSL4	ORPHA:86818
HP:0010935	Abnormality of the upper urinary tract	9949	AMMECR1	ORPHA:86818
HP:0010935	Abnormality of the upper urinary tract	100147744	RNU7-1	OMIM:619487
HP:0010935	Abnormality of the upper urinary tract	2628	GATM	OMIM:134600
HP:0010935	Abnormality of the upper urinary tract	6569	SLC34A1	OMIM:613388
HP:0010935	Abnormality of the upper urinary tract	100506658	OCLN	OMIM:251290
HP:0010935	Abnormality of the upper urinary tract	50485	SMARCAL1	OMIM:242900
HP:0010935	Abnormality of the upper urinary tract	199221	DZIP1L	ORPHA:731
HP:0010935	Abnormality of the upper urinary tract	5264	PHYH	ORPHA:773
HP:0010935	Abnormality of the upper urinary tract	5191	PEX7	ORPHA:773
HP:0010935	Abnormality of the upper urinary tract	348	APOE	OMIM:611771
HP:0010935	Abnormality of the upper urinary tract	25974	MMACHC	ORPHA:79282
HP:0010935	Abnormality of the upper urinary tract	25974	MMACHC	OMIM:277400
HP:0010935	Abnormality of the upper urinary tract	6340	SCNN1G	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	6337	SCNN1A	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	8481	OFD1	ORPHA:2750
HP:0010935	Abnormality of the upper urinary tract	81494	CFHR5	OMIM:614809
HP:0010935	Abnormality of the upper urinary tract	3735	KARS1	OMIM:619147
HP:0010935	Abnormality of the upper urinary tract	9054	NFS1	OMIM:619386
HP:0010935	Abnormality of the upper urinary tract	1235	CCR6	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	1490	CCN2	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	3663	IRF5	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	857	CAV1	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	4627	MYH9	ORPHA:182050
HP:0010935	Abnormality of the upper urinary tract	9935	MAFB	OMIM:166300
HP:0010935	Abnormality of the upper urinary tract	3145	HMBS	ORPHA:79276
HP:0010935	Abnormality of the upper urinary tract	5052	PRDX1	OMIM:277400
HP:0010935	Abnormality of the upper urinary tract	2137	EXTL3	ORPHA:508533
HP:0010935	Abnormality of the upper urinary tract	6309	SC5D	ORPHA:46059
HP:0010935	Abnormality of the upper urinary tract	6309	SC5D	OMIM:607330
HP:0010935	Abnormality of the upper urinary tract	10054	UBA2	OMIM:619959
HP:0010935	Abnormality of the upper urinary tract	6650	CAPN15	OMIM:619318
HP:0010935	Abnormality of the upper urinary tract	10274	STAG1	ORPHA:502434
HP:0010935	Abnormality of the upper urinary tract	1736	DKC1	OMIM:305000
HP:0010935	Abnormality of the upper urinary tract	27125	AFF4	ORPHA:444077
HP:0010935	Abnormality of the upper urinary tract	27125	AFF4	OMIM:616368
HP:0010935	Abnormality of the upper urinary tract	29998	BICRA	OMIM:619325
HP:0010935	Abnormality of the upper urinary tract	6651	SON	OMIM:617140
HP:0010935	Abnormality of the upper urinary tract	6651	SON	ORPHA:500150
HP:0010935	Abnormality of the upper urinary tract	65993	MRPS34	OMIM:617664
HP:0010935	Abnormality of the upper urinary tract	83479	DDX59	OMIM:174300
HP:0010935	Abnormality of the upper urinary tract	9723	SEMA3E	ORPHA:138
HP:0010935	Abnormality of the upper urinary tract	7547	ZIC3	OMIM:306955
HP:0010935	Abnormality of the upper urinary tract	10584	COLEC10	OMIM:248340
HP:0010935	Abnormality of the upper urinary tract	113189	CHST14	ORPHA:2953
HP:0010935	Abnormality of the upper urinary tract	29940	DSE	ORPHA:2953
HP:0010935	Abnormality of the upper urinary tract	6597	SMARCA4	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6598	SMARCB1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6659	SOX4	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	8289	ARID1A	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	5977	DPF2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6601	SMARCC2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6602	SMARCD1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	196528	ARID2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6605	SMARCE1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6664	SOX11	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	1147	CHUK	OMIM:613630
HP:0010935	Abnormality of the upper urinary tract	157570	ESCO2	ORPHA:2319
HP:0010935	Abnormality of the upper urinary tract	157570	ESCO2	OMIM:268300
HP:0010935	Abnormality of the upper urinary tract	157570	ESCO2	OMIM:216100
HP:0010935	Abnormality of the upper urinary tract	64093	SMOC1	ORPHA:1106
HP:0010935	Abnormality of the upper urinary tract	7319	UBE2A	OMIM:300860
HP:0010935	Abnormality of the upper urinary tract	10524	KAT5	OMIM:619103
HP:0010935	Abnormality of the upper urinary tract	7403	KDM6A	OMIM:300867
HP:0010935	Abnormality of the upper urinary tract	6885	MAP3K7	OMIM:157800
HP:0010935	Abnormality of the upper urinary tract	8241	RBM10	OMIM:311900
HP:0010935	Abnormality of the upper urinary tract	8241	RBM10	ORPHA:2886
HP:0010935	Abnormality of the upper urinary tract	3192	HNRNPU	ORPHA:238769
HP:0010935	Abnormality of the upper urinary tract	64840	PORCN	OMIM:305600
HP:0010935	Abnormality of the upper urinary tract	64840	PORCN	ORPHA:2092
HP:0010935	Abnormality of the upper urinary tract	5447	POR	OMIM:201750
HP:0010935	Abnormality of the upper urinary tract	6135	RPL11	OMIM:612562
HP:0010935	Abnormality of the upper urinary tract	6135	RPL11	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	10283	CWC27	OMIM:250410
HP:0010935	Abnormality of the upper urinary tract	10283	CWC27	ORPHA:166035
HP:0010935	Abnormality of the upper urinary tract	3845	KRAS	OMIM:163200
HP:0010935	Abnormality of the upper urinary tract	4893	NRAS	OMIM:163200
HP:0010935	Abnormality of the upper urinary tract	2887	GRB10	ORPHA:96182
HP:0010935	Abnormality of the upper urinary tract	79228	THOC6	ORPHA:363444
HP:0010935	Abnormality of the upper urinary tract	79228	THOC6	OMIM:613680
HP:0010935	Abnormality of the upper urinary tract	78989	COLEC11	OMIM:265050
HP:0010935	Abnormality of the upper urinary tract	3187	HNRNPH1	OMIM:620083
HP:0010935	Abnormality of the upper urinary tract	6748	SSR4	ORPHA:370927
HP:0010935	Abnormality of the upper urinary tract	9319	TRIP13	OMIM:617598
HP:0010935	Abnormality of the upper urinary tract	9939	RBM8A	ORPHA:3320
HP:0010935	Abnormality of the upper urinary tract	9939	RBM8A	OMIM:274000
HP:0010935	Abnormality of the upper urinary tract	3110	MNX1	OMIM:176450
HP:0010935	Abnormality of the upper urinary tract	10225	CD96	ORPHA:1308
HP:0010935	Abnormality of the upper urinary tract	6138	RPL15	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6229	RPS24	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6125	RPL5	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6204	RPS10	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6224	RPS20	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6165	RPL35A	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	2623	GATA1	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6232	RPS27	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	11224	RPL35	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6160	RPL31	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6218	RPS17	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6201	RPS7	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6155	RPL27	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6154	RPL26	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6210	RPS15A	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	90121	TSR2	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6141	RPL18	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6235	RPS29	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6234	RPS28	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	51816	ADA2	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6736	SRY	ORPHA:1772
HP:0010935	Abnormality of the upper urinary tract	1642	DDB1	OMIM:619426
HP:0010935	Abnormality of the upper urinary tract	157657	CFAP418	OMIM:617406
HP:0010935	Abnormality of the upper urinary tract	26123	TCTN3	OMIM:614815
HP:0010935	Abnormality of the upper urinary tract	80000	GREB1L	OMIM:617805
HP:0010935	Abnormality of the upper urinary tract	168667	BMPER	OMIM:608022
HP:0010935	Abnormality of the upper urinary tract	1123	CHN1	ORPHA:233
HP:0010935	Abnormality of the upper urinary tract	6611	SMS	ORPHA:3063
HP:0010935	Abnormality of the upper urinary tract	6628	SNRPB	OMIM:117650
HP:0010935	Abnormality of the upper urinary tract	83700	JAM3	OMIM:613730
HP:0010935	Abnormality of the upper urinary tract	54361	WNT4	ORPHA:3109
HP:0010935	Abnormality of the upper urinary tract	9508	ADAMTS3	ORPHA:2136
HP:0010935	Abnormality of the upper urinary tract	147372	CCBE1	ORPHA:2136
HP:0010935	Abnormality of the upper urinary tract	147372	CCBE1	OMIM:235510
HP:0010935	Abnormality of the upper urinary tract	10992	SF3B2	OMIM:164210
HP:0010935	Abnormality of the upper urinary tract	5932	RBBP8	OMIM:606744
HP:0010935	Abnormality of the upper urinary tract	8239	USP9X	OMIM:300919
HP:0010935	Abnormality of the upper urinary tract	23384	SPECC1L	ORPHA:1519
HP:0010935	Abnormality of the upper urinary tract	6231	RPS26	OMIM:613309
HP:0010935	Abnormality of the upper urinary tract	1763	DNA2	OMIM:615807
HP:0010935	Abnormality of the upper urinary tract	3239	HOXD13	ORPHA:887
HP:0010935	Abnormality of the upper urinary tract	54101	RIPK4	OMIM:263650
HP:0010935	Abnormality of the upper urinary tract	90417	KNSTRN	OMIM:613328
HP:0010935	Abnormality of the upper urinary tract	5293	PIK3CD	OMIM:613328
HP:0010935	Abnormality of the upper urinary tract	11005	SPINK5	ORPHA:634
HP:0010935	Abnormality of the upper urinary tract	5290	PIK3CA	OMIM:612918
HP:0010935	Abnormality of the upper urinary tract	22827	PUF60	ORPHA:508498
HP:0010935	Abnormality of the upper urinary tract	22827	PUF60	OMIM:615583
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	ORPHA:97362
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	ORPHA:1475
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	OMIM:616002
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	OMIM:120330
HP:0010935	Abnormality of the upper urinary tract	5087	PBX1	ORPHA:97362
HP:0010935	Abnormality of the upper urinary tract	5087	PBX1	OMIM:617641
HP:0010935	Abnormality of the upper urinary tract	341640	FREM2	ORPHA:2052
HP:0010935	Abnormality of the upper urinary tract	341640	FREM2	OMIM:617666
HP:0010935	Abnormality of the upper urinary tract	80144	FRAS1	ORPHA:2052
HP:0010935	Abnormality of the upper urinary tract	80144	FRAS1	OMIM:219000
HP:0010935	Abnormality of the upper urinary tract	23426	GRIP1	ORPHA:2052
HP:0010935	Abnormality of the upper urinary tract	54892	NCAPG2	OMIM:618460
HP:0010935	Abnormality of the upper urinary tract	11020	IFT27	OMIM:615996
HP:0010935	Abnormality of the upper urinary tract	1161	ERCC8	ORPHA:90324
HP:0010935	Abnormality of the upper urinary tract	2074	ERCC6	ORPHA:90324
HP:0010935	Abnormality of the upper urinary tract	100151683	RNU4ATAC	OMIM:210710
HP:0010935	Abnormality of the upper urinary tract	4774	NFIA	OMIM:613735
HP:0010935	Abnormality of the upper urinary tract	57167	SALL4	OMIM:607323
HP:0010935	Abnormality of the upper urinary tract	4838	NODAL	OMIM:270100
HP:0010935	Abnormality of the upper urinary tract	64220	STRA6	OMIM:601186
HP:0010935	Abnormality of the upper urinary tract	64220	STRA6	ORPHA:2470
HP:0010935	Abnormality of the upper urinary tract	6299	SALL1	OMIM:107480
HP:0010935	Abnormality of the upper urinary tract	6299	SALL1	ORPHA:857
HP:0010935	Abnormality of the upper urinary tract	55112	DYNC2I1	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	57560	IFT80	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	57539	WDR35	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	57539	WDR35	OMIM:614091
HP:0010935	Abnormality of the upper urinary tract	79659	DYNC2H1	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	89891	DYNC2I2	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	23498	HAAO	OMIM:617660
HP:0010935	Abnormality of the upper urinary tract	55159	RFWD3	OMIM:617784
HP:0010935	Abnormality of the upper urinary tract	8942	KYNU	OMIM:617661
HP:0010935	Abnormality of the upper urinary tract	8882	ZPR1	OMIM:619321
HP:0010935	Abnormality of the upper urinary tract	3313	HSPA9	OMIM:616854
HP:0010935	Abnormality of the upper urinary tract	55215	FANCI	OMIM:609053
HP:0010935	Abnormality of the upper urinary tract	23291	FBXW11	OMIM:618914
HP:0010935	Abnormality of the upper urinary tract	6092	ROBO2	OMIM:610878
HP:0010935	Abnormality of the upper urinary tract	6926	TBX3	ORPHA:3138
HP:0010935	Abnormality of the upper urinary tract	2188	FANCF	OMIM:603467
HP:0010935	Abnormality of the upper urinary tract	84987	COX14	OMIM:619053
HP:0010935	Abnormality of the upper urinary tract	57492	ARID1B	OMIM:135900
HP:0010935	Abnormality of the upper urinary tract	3899	AFF3	OMIM:619297
HP:0010935	Abnormality of the upper urinary tract	54496	PRMT7	OMIM:617157
HP:0010935	Abnormality of the upper urinary tract	54496	PRMT7	ORPHA:464288
HP:0010935	Abnormality of the upper urinary tract	6928	HNF1B	OMIM:137920
HP:0010935	Abnormality of the upper urinary tract	54567	DLL4	OMIM:616589
HP:0010935	Abnormality of the upper urinary tract	1312	COMT	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	221037	JMJD1C	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	2812	GP1BB	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	6239	RREB1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	6899	TBX1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	7290	HIRA	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	9632	SEC24C	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	7353	UFD1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	421	ARVCF	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	91647	ATPAF2	OMIM:604273
HP:0010935	Abnormality of the upper urinary tract	25778	DSTYK	OMIM:610805
HP:0010935	Abnormality of the upper urinary tract	1717	DHCR7	OMIM:270400
HP:0010935	Abnormality of the upper urinary tract	652	BMP4	OMIM:607932
HP:0010935	Abnormality of the upper urinary tract	8091	HMGA2	ORPHA:94063
HP:0010935	Abnormality of the upper urinary tract	23592	LEMD3	ORPHA:94063
HP:0010935	Abnormality of the upper urinary tract	1822	ATN1	OMIM:618494
HP:0010935	Abnormality of the upper urinary tract	5147	PDE6D	OMIM:615665
HP:0010935	Abnormality of the upper urinary tract	55636	CHD7	OMIM:214800
HP:0010935	Abnormality of the upper urinary tract	79633	FAT4	OMIM:615546
HP:0010935	Abnormality of the upper urinary tract	79633	FAT4	ORPHA:314679
HP:0010935	Abnormality of the upper urinary tract	4582	MUC1	OMIM:174000
HP:0010935	Abnormality of the upper urinary tract	8642	DCHS1	OMIM:601390
HP:0010935	Abnormality of the upper urinary tract	8642	DCHS1	ORPHA:314679
HP:0010935	Abnormality of the upper urinary tract	9096	TBX18	OMIM:143400
HP:0010935	Abnormality of the upper urinary tract	2737	GLI3	OMIM:146510
HP:0010935	Abnormality of the upper urinary tract	5972	REN	OMIM:613092
HP:0010935	Abnormality of the upper urinary tract	8260	NAA10	OMIM:309800
HP:0010935	Abnormality of the upper urinary tract	54880	BCOR	OMIM:309800
HP:0010935	Abnormality of the upper urinary tract	145173	B3GLCT	OMIM:261540
HP:0010935	Abnormality of the upper urinary tract	6804	STX1A	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	7461	CLIP2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	84277	DNAJC30	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	8468	FKBP6	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	5982	RFC2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	2969	GTF2I	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	3984	LIMK1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	9569	GTF2IRD1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	155382	VPS37D	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	155368	METTL27	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	114049	BUD23	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	7458	EIF4H	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	84163	GTF2IRD2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	9275	BCL7B	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	26608	TBL2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	653361	NCF1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	135886	TMEM270	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	51085	MLXIPL	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	51085	MLXIPL	OMIM:194050
HP:0010935	Abnormality of the upper urinary tract	9031	BAZ1B	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	2006	ELN	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	2006	ELN	OMIM:194050
HP:0010935	Abnormality of the upper urinary tract	8364	H4C3	OMIM:619758
HP:0010935	Abnormality of the upper urinary tract	55165	CEP55	OMIM:236500
HP:0010935	Abnormality of the upper urinary tract	10907	TXNL4A	OMIM:608572
HP:0010935	Abnormality of the upper urinary tract	8204	NRIP1	OMIM:618270
HP:0010935	Abnormality of the upper urinary tract	284252	KCTD1	OMIM:181270
HP:0010935	Abnormality of the upper urinary tract	374879	ZNF699	OMIM:619488
HP:0010935	Abnormality of the upper urinary tract	9928	KIF14	OMIM:616258
HP:0010935	Abnormality of the upper urinary tract	9928	KIF14	OMIM:617914
HP:0010935	Abnormality of the upper urinary tract	51473	DCDC2	ORPHA:84081
HP:0010935	Abnormality of the upper urinary tract	91147	TMEM67	ORPHA:84081
HP:0010935	Abnormality of the upper urinary tract	182	JAG1	OMIM:118450
HP:0010935	Abnormality of the upper urinary tract	2263	FGFR2	ORPHA:2363
HP:0010935	Abnormality of the upper urinary tract	2261	FGFR3	ORPHA:2363
HP:0010935	Abnormality of the upper urinary tract	2255	FGF10	ORPHA:2363
HP:0010935	Abnormality of the upper urinary tract	51339	DACT1	ORPHA:857
HP:0010935	Abnormality of the upper urinary tract	84919	PPP1R15B	OMIM:616817
HP:0010935	Abnormality of the upper urinary tract	63895	PIEZO2	OMIM:248700
HP:0010935	Abnormality of the upper urinary tract	10084	PQBP1	OMIM:309500
HP:0010935	Abnormality of the upper urinary tract	5915	RARB	ORPHA:2470
HP:0010935	Abnormality of the upper urinary tract	55120	FANCL	OMIM:614083
HP:0010935	Abnormality of the upper urinary tract	153241	CEP120	OMIM:616300
HP:0010935	Abnormality of the upper urinary tract	7518	XRCC4	OMIM:616541
HP:0010935	Abnormality of the upper urinary tract	4193	MDM2	OMIM:618681
HP:0010935	Abnormality of the upper urinary tract	10463	SLC30A9	OMIM:617595
HP:0010935	Abnormality of the upper urinary tract	51360	MBTPS2	ORPHA:85284
HP:0010935	Abnormality of the upper urinary tract	546	ATRX	OMIM:309580
HP:0010935	Abnormality of the upper urinary tract	5885	RAD21	OMIM:611376
HP:0010935	Abnormality of the upper urinary tract	25836	NIPBL	OMIM:122470
HP:0010935	Abnormality of the upper urinary tract	50628	GEMIN4	OMIM:617913
HP:0010935	Abnormality of the upper urinary tract	55005	RMND1	OMIM:614922
HP:0010935	Abnormality of the upper urinary tract	5557	PRIM1	OMIM:620005
HP:0010935	Abnormality of the upper urinary tract	4853	NOTCH2	OMIM:610205
HP:0010935	Abnormality of the upper urinary tract	84100	ARL6	OMIM:600151
HP:0010935	Abnormality of the upper urinary tract	6223	RPS19	OMIM:105650
HP:0010935	Abnormality of the upper urinary tract	8295	TRRAP	OMIM:618454
HP:0010935	Abnormality of the upper urinary tract	9652	SKIC3	ORPHA:84064
HP:0010935	Abnormality of the upper urinary tract	6499	SKIC2	ORPHA:84064
HP:0010935	Abnormality of the upper urinary tract	57728	WDR19	OMIM:614376
HP:0010935	Abnormality of the upper urinary tract	57728	WDR19	OMIM:614377
HP:0010935	Abnormality of the upper urinary tract	4654	MYOD1	OMIM:618975
HP:0010935	Abnormality of the upper urinary tract	27152	INTU	OMIM:617926
HP:0010935	Abnormality of the upper urinary tract	3762	KCNJ5	ORPHA:37553
HP:0010935	Abnormality of the upper urinary tract	3759	KCNJ2	ORPHA:37553
HP:0010935	Abnormality of the upper urinary tract	4038	LRP4	OMIM:212780
HP:0010935	Abnormality of the upper urinary tract	261734	NPHP4	OMIM:606996
HP:0010935	Abnormality of the upper urinary tract	261734	NPHP4	OMIM:606966
HP:0010935	Abnormality of the upper urinary tract	261734	NPHP4	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	95681	CEP41	OMIM:614464
HP:0010935	Abnormality of the upper urinary tract	63929	XPNPEP3	OMIM:613159
HP:0010935	Abnormality of the upper urinary tract	22897	CEP164	OMIM:614845
HP:0010935	Abnormality of the upper urinary tract	22897	CEP164	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	84662	GLIS2	OMIM:611498
HP:0010935	Abnormality of the upper urinary tract	26146	TRAF3IP1	OMIM:616629
HP:0010935	Abnormality of the upper urinary tract	26146	TRAF3IP1	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	54806	AHI1	OMIM:608629
HP:0010935	Abnormality of the upper urinary tract	9321	TRIP11	OMIM:184260
HP:0010935	Abnormality of the upper urinary tract	112752	IFT43	OMIM:614099
HP:0010935	Abnormality of the upper urinary tract	51134	CEP83	OMIM:615862
HP:0010935	Abnormality of the upper urinary tract	284086	NEK8	OMIM:613824
HP:0010935	Abnormality of the upper urinary tract	9657	IQCB1	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	9657	IQCB1	OMIM:609254
HP:0010935	Abnormality of the upper urinary tract	27130	INVS	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	27130	INVS	OMIM:602088
HP:0010935	Abnormality of the upper urinary tract	22909	FAN1	OMIM:614817
HP:0010935	Abnormality of the upper urinary tract	56945	MRPS22	OMIM:611719
HP:0010935	Abnormality of the upper urinary tract	5373	PMM2	ORPHA:79318
HP:0010935	Abnormality of the upper urinary tract	4536	MT-ND2	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4537	MT-ND3	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4577	MT-TV	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4508	MT-ATP6	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	56606	SLC2A9	ORPHA:94088
HP:0010935	Abnormality of the upper urinary tract	116085	SLC22A12	ORPHA:94088
HP:0010935	Abnormality of the upper urinary tract	25915	NDUFAF3	ORPHA:70474
HP:0010935	Abnormality of the upper urinary tract	4714	NDUFB8	ORPHA:70474
HP:0010935	Abnormality of the upper urinary tract	4720	NDUFS2	ORPHA:70474
HP:0010935	Abnormality of the upper urinary tract	9997	SCO2	ORPHA:70474
HP:0010935	Abnormality of the upper urinary tract	6834	SURF1	ORPHA:70474
HP:0010935	Abnormality of the upper urinary tract	26276	VPS33B	OMIM:208085
HP:0010935	Abnormality of the upper urinary tract	11277	TREX1	ORPHA:247691
HP:0010935	Abnormality of the upper urinary tract	9722	NOS1AP	OMIM:619155
HP:0010935	Abnormality of the upper urinary tract	5339	PLEC	ORPHA:158684
HP:0010935	Abnormality of the upper urinary tract	3691	ITGB4	ORPHA:158684
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	1743	DLST	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	4191	MDH2	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	5979	RET	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	5979	RET	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	6389	SDHA	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	23095	KIF1B	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	2271	FH	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	8402	SLC25A11	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	54949	SDHAF2	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	55654	TMEM127	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	4763	NF1	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	6391	SDHC	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	6392	SDHD	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	6392	SDHD	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	6390	SDHB	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	6390	SDHB	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	4149	MAX	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	1788	DNMT3A	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	2034	EPAS1	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	55644	OSGEP	OMIM:617729
HP:0010935	Abnormality of the upper urinary tract	7225	TRPC6	OMIM:603965
HP:0010935	Abnormality of the upper urinary tract	7225	TRPC6	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	4558	MT-TF	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4572	MT-TQ	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4513	MT-CO2	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4578	MT-TW	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4540	MT-ND5	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4541	MT-ND6	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4535	MT-ND1	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4538	MT-ND4	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4574	MT-TS1	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4575	MT-TS2	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4564	MT-TH	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	112858	TP53RK	OMIM:617730
HP:0010935	Abnormality of the upper urinary tract	8879	SGPL1	OMIM:617575
HP:0010935	Abnormality of the upper urinary tract	8270	LAGE3	OMIM:301006
HP:0010935	Abnormality of the upper urinary tract	29927	SEC61A1	OMIM:617056
HP:0010935	Abnormality of the upper urinary tract	51002	TPRKB	OMIM:617731
HP:0010935	Abnormality of the upper urinary tract	10785	WDR4	OMIM:618347
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	OMIM:618348
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	OMIM:616730
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	55746	NUP133	OMIM:618349
HP:0010935	Abnormality of the upper urinary tract	55746	NUP133	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	55746	NUP133	OMIM:618177
HP:0010935	Abnormality of the upper urinary tract	81	ACTN4	OMIM:603278
HP:0010935	Abnormality of the upper urinary tract	81	ACTN4	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	55243	KIRREL1	OMIM:619201
HP:0010935	Abnormality of the upper urinary tract	10651	MTX2	OMIM:619127
HP:0010935	Abnormality of the upper urinary tract	23165	NUP205	OMIM:616893
HP:0010935	Abnormality of the upper urinary tract	23165	NUP205	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	9688	NUP93	OMIM:616892
HP:0010935	Abnormality of the upper urinary tract	9688	NUP93	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	5800	PTPRO	OMIM:614196
HP:0010935	Abnormality of the upper urinary tract	5800	PTPRO	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	65082	VPS33A	OMIM:617303
HP:0010935	Abnormality of the upper urinary tract	84520	GON7	OMIM:619603
HP:0010935	Abnormality of the upper urinary tract	4643	MYO1E	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	4643	MYO1E	OMIM:614131
HP:0010935	Abnormality of the upper urinary tract	64423	INF2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	64423	INF2	OMIM:613237
HP:0010935	Abnormality of the upper urinary tract	64423	INF2	OMIM:614455
HP:0010935	Abnormality of the upper urinary tract	26130	GAPVD1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	51479	ANKFY1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	54443	ANLN	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	54443	ANLN	OMIM:616032
HP:0010935	Abnormality of the upper urinary tract	2013	EMP2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79023	NUP37	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	51196	PLCE1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	51196	PLCE1	OMIM:610725
HP:0010935	Abnormality of the upper urinary tract	79902	NUP85	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79902	NUP85	OMIM:618176
HP:0010935	Abnormality of the upper urinary tract	396	ARHGDIA	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79934	COQ8B	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79934	COQ8B	OMIM:615573
HP:0010935	Abnormality of the upper urinary tract	23279	NUP160	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	23279	NUP160	OMIM:618178
HP:0010935	Abnormality of the upper urinary tract	9863	MAGI2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	8542	APOL1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	8542	APOL1	OMIM:612551
HP:0010935	Abnormality of the upper urinary tract	54885	TBC1D8B	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	54885	TBC1D8B	OMIM:301028
HP:0010935	Abnormality of the upper urinary tract	7827	NPHS2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	7827	NPHS2	OMIM:600995
HP:0010935	Abnormality of the upper urinary tract	83478	ARHGAP24	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	23500	DAAM2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	23500	DAAM2	OMIM:619263
HP:0010935	Abnormality of the upper urinary tract	27235	COQ2	OMIM:607426
HP:0010935	Abnormality of the upper urinary tract	2538	G6PC1	OMIM:232200
HP:0010935	Abnormality of the upper urinary tract	3911	LAMA5	OMIM:620049
HP:0010935	Abnormality of the upper urinary tract	51004	COQ6	OMIM:614650
HP:0010935	Abnormality of the upper urinary tract	79731	NARS2	OMIM:616239
HP:0010935	Abnormality of the upper urinary tract	6559	SLC12A3	ORPHA:358
HP:0010935	Abnormality of the upper urinary tract	9056	SLC7A7	ORPHA:470
HP:0010935	Abnormality of the upper urinary tract	8651	SOCS1	OMIM:619375
HP:0010935	Abnormality of the upper urinary tract	975	CD81	OMIM:613496
HP:0010935	Abnormality of the upper urinary tract	50943	FOXP3	OMIM:304790
HP:0010935	Abnormality of the upper urinary tract	81603	TRIM8	OMIM:619428
HP:0010935	Abnormality of the upper urinary tract	9342	SNAP29	ORPHA:66631
HP:0010935	Abnormality of the upper urinary tract	5921	RASA1	ORPHA:90307
HP:0010935	Abnormality of the upper urinary tract	708	C1QBP	OMIM:617713
HP:0010935	Abnormality of the upper urinary tract	79415	CYBC1	OMIM:618935
HP:0010935	Abnormality of the upper urinary tract	4069	LYZ	OMIM:105200
HP:0010935	Abnormality of the upper urinary tract	2243	FGA	OMIM:105200
HP:0010935	Abnormality of the upper urinary tract	335	APOA1	OMIM:105200
HP:0010935	Abnormality of the upper urinary tract	5265	SERPINA1	ORPHA:60
HP:0010935	Abnormality of the upper urinary tract	6023	RMRP	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	5896	RAG1	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	5897	RAG2	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	64421	DCLRE1C	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	3575	IL7R	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	3561	IL2RG	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	64135	IFIH1	OMIM:615846
HP:0010935	Abnormality of the upper urinary tract	4141	MARS1	ORPHA:401835
HP:0010935	Abnormality of the upper urinary tract	26503	SLC17A5	OMIM:269920
HP:0010935	Abnormality of the upper urinary tract	10916	MAGED2	OMIM:300971
HP:0010935	Abnormality of the upper urinary tract	9365	KL	OMIM:617994
HP:0010935	Abnormality of the upper urinary tract	3710	ITPR3	OMIM:222100
HP:0010935	Abnormality of the upper urinary tract	3569	IL6	OMIM:222100
HP:0010935	Abnormality of the upper urinary tract	7484	WNT9B	ORPHA:1848
HP:0010935	Abnormality of the upper urinary tract	28514	DLL1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2253	FGF8	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2253	FGF8	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	6496	SIX3	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	7050	TGIF1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	51684	SUFU	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	7546	ZIC2	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2619	GAS1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	84976	DISP1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2736	GLI2	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	8928	FOXH1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	50937	CDON	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	3640	INSL3	OMIM:219050
HP:0010935	Abnormality of the upper urinary tract	10371	SEMA3A	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	81848	SPRY4	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	23767	FLRT3	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	79625	NDNF	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	389549	FEZF1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	54756	IL17RD	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	285025	CCDC141	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	60675	PROK2	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	1848	DUSP6	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	6870	TACR3	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	55717	WDR11	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	9394	HS6ST1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	8820	HESX1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	8822	FGF17	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	26227	PHGDH	OMIM:256520
HP:0010935	Abnormality of the upper urinary tract	51422	PRKAG2	OMIM:261740
HP:0010935	Abnormality of the upper urinary tract	23394	ADNP	OMIM:615873
HP:0010935	Abnormality of the upper urinary tract	11311	VPS45	OMIM:615285
HP:0010935	Abnormality of the upper urinary tract	79158	GNPTAB	OMIM:252500
HP:0010935	Abnormality of the upper urinary tract	745	MYRF	OMIM:618280
HP:0010935	Abnormality of the upper urinary tract	6718	AKR1D1	ORPHA:79303
HP:0010935	Abnormality of the upper urinary tract	7086	TKT	ORPHA:488618
HP:0010935	Abnormality of the upper urinary tract	4519	MT-CYB	ORPHA:137675
HP:0010935	Abnormality of the upper urinary tract	4437	MSH3	OMIM:617100
HP:0010935	Abnormality of the upper urinary tract	4437	MSH3	ORPHA:480536
HP:0010935	Abnormality of the upper urinary tract	79053	ALG8	OMIM:617874
HP:0010935	Abnormality of the upper urinary tract	3295	HSD17B4	OMIM:261515
HP:0010935	Abnormality of the upper urinary tract	83483	PLVAP	OMIM:618183
HP:0010935	Abnormality of the upper urinary tract	6608	SMO	OMIM:241800
HP:0010935	Abnormality of the upper urinary tract	7707	ZNF148	OMIM:617260
HP:0010935	Abnormality of the upper urinary tract	29954	POMT2	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	9215	LARGE1	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	79147	FKRP	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	10585	POMT1	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	2218	FKTN	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	26173	INTS1	OMIM:618571
HP:0010935	Abnormality of the upper urinary tract	493856	CISD2	ORPHA:3463
HP:0010935	Abnormality of the upper urinary tract	3766	KCNJ10	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	2299	FOXI1	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	5172	SLC26A4	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	5625	PRODH	ORPHA:419
HP:0010935	Abnormality of the upper urinary tract	3090	HIC1	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	5048	PAFAH1B1	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	7531	YWHAE	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	1371	CPOX	ORPHA:79273
HP:0010935	Abnormality of the upper urinary tract	4750	NEK1	OMIM:263520
HP:0010935	Abnormality of the upper urinary tract	5830	PEX5	OMIM:214110
HP:0010935	Abnormality of the upper urinary tract	219854	TMEM218	OMIM:619562
HP:0010935	Abnormality of the upper urinary tract	169792	GLIS3	OMIM:610199
HP:0010935	Abnormality of the upper urinary tract	5193	PEX12	OMIM:614859
HP:0010935	Abnormality of the upper urinary tract	4351	MPI	OMIM:602579
HP:0010935	Abnormality of the upper urinary tract	54539	NDUFB11	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	51103	NDUFAF1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	91942	NDUFAF2	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	51300	TIMMDC1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4716	NDUFB10	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4723	NDUFV1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	55572	FOXRED1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	284184	NDUFAF8	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4729	NDUFV2	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4694	NDUFA1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4724	NDUFS4	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4726	NDUFS6	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4728	NDUFS8	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4722	NDUFS3	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	79133	NDUFAF5	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	126328	NDUFA11	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4709	NDUFB3	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	80224	NUBPL	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	29078	NDUFAF4	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	374291	NDUFS7	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4700	NDUFA6	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4719	NDUFS1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4715	NDUFB9	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	8504	PEX3	OMIM:617370
HP:0010935	Abnormality of the upper urinary tract	51095	TRNT1	OMIM:616084
HP:0010935	Abnormality of the upper urinary tract	6809	STX3	ORPHA:2290
HP:0010935	Abnormality of the upper urinary tract	4645	MYO5B	ORPHA:2290
HP:0010935	Abnormality of the upper urinary tract	92335	STRADA	ORPHA:500533
HP:0010935	Abnormality of the upper urinary tract	92335	STRADA	OMIM:611087
HP:0010935	Abnormality of the upper urinary tract	3643	INSR	ORPHA:508
HP:0010935	Abnormality of the upper urinary tract	3643	INSR	ORPHA:769
HP:0010935	Abnormality of the upper urinary tract	2767	GNA11	ORPHA:428
HP:0010935	Abnormality of the upper urinary tract	846	CASR	ORPHA:428
HP:0010935	Abnormality of the upper urinary tract	846	CASR	OMIM:601198
HP:0010935	Abnormality of the upper urinary tract	526	ATP6V1B2	ORPHA:79500
HP:0010935	Abnormality of the upper urinary tract	249	ALPL	OMIM:241500
HP:0010935	Abnormality of the upper urinary tract	51119	SBDS	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	134218	DNAJC21	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	6729	SRP54	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	6506	SLC1A2	OMIM:617105
HP:0010935	Abnormality of the upper urinary tract	476	ATP1A1	OMIM:618314
HP:0010935	Abnormality of the upper urinary tract	476	ATP1A1	ORPHA:564178
HP:0010935	Abnormality of the upper urinary tract	58528	RRAGD	OMIM:620152
HP:0010935	Abnormality of the upper urinary tract	5745	PTH1R	OMIM:156400
HP:0010935	Abnormality of the upper urinary tract	326	AIRE	OMIM:240300
HP:0010935	Abnormality of the upper urinary tract	2530	FUT8	OMIM:618005
HP:0010935	Abnormality of the upper urinary tract	5741	PTH	OMIM:146200
HP:0010935	Abnormality of the upper urinary tract	5286	PIK3C2A	ORPHA:557003
HP:0010935	Abnormality of the upper urinary tract	6557	SLC12A1	OMIM:601678
HP:0010935	Abnormality of the upper urinary tract	3758	KCNJ1	OMIM:241200
HP:0010935	Abnormality of the upper urinary tract	529	ATP6V1E1	OMIM:617402
HP:0010935	Abnormality of the upper urinary tract	1591	CYP24A1	OMIM:143880
HP:0010935	Abnormality of the upper urinary tract	57592	ZNF687	OMIM:616833
HP:0010935	Abnormality of the upper urinary tract	5518	PPP2R1A	OMIM:616362
HP:0010935	Abnormality of the upper urinary tract	5518	PPP2R1A	ORPHA:457284
HP:0010935	Abnormality of the upper urinary tract	128674	PROKR2	OMIM:244200
HP:0010935	Abnormality of the upper urinary tract	55503	TRPV6	OMIM:618188
HP:0010935	Abnormality of the upper urinary tract	998	CDC42	ORPHA:487796
HP:0010935	Abnormality of the upper urinary tract	998	CDC42	OMIM:616737
HP:0010935	Abnormality of the upper urinary tract	5832	ALDH18A1	OMIM:616603
HP:0010935	Abnormality of the upper urinary tract	5832	ALDH18A1	ORPHA:90348
HP:0010935	Abnormality of the upper urinary tract	91801	ALKBH8	OMIM:618504
HP:0010935	Abnormality of the upper urinary tract	54499	TMCO1	OMIM:213980
HP:0010935	Abnormality of the upper urinary tract	8496	PPFIBP1	OMIM:620024
HP:0010935	Abnormality of the upper urinary tract	3417	IDH1	ORPHA:99646
HP:0010935	Abnormality of the upper urinary tract	55252	ASXL2	OMIM:617190
HP:0010935	Abnormality of the upper urinary tract	50814	NSDHL	OMIM:308050
HP:0010935	Abnormality of the upper urinary tract	55788	LMBRD1	ORPHA:79284
HP:0010935	Abnormality of the upper urinary tract	3730	ANOS1	OMIM:308700
HP:0010935	Abnormality of the upper urinary tract	57511	COG6	OMIM:614576
HP:0010935	Abnormality of the upper urinary tract	55012	PPP2R3C	OMIM:618419
HP:0010935	Abnormality of the upper urinary tract	51729	WBP11	OMIM:619227
HP:0010935	Abnormality of the upper urinary tract	2783	GNB2	OMIM:619503
HP:0010935	Abnormality of the upper urinary tract	26057	ANKRD17	OMIM:619504
HP:0010935	Abnormality of the upper urinary tract	5573	PRKAR1A	OMIM:101800
HP:0010935	Abnormality of the upper urinary tract	158326	FREM1	OMIM:608980
HP:0010935	Abnormality of the upper urinary tract	6862	TBXT	OMIM:615709
HP:0010935	Abnormality of the upper urinary tract	3162	HMOX1	OMIM:614034
HP:0010935	Abnormality of the upper urinary tract	5340	PLG	OMIM:217090
HP:0010935	Abnormality of the upper urinary tract	5251	PHEX	OMIM:307800
HP:0010935	Abnormality of the upper urinary tract	6524	SLC5A2	ORPHA:69076
HP:0010935	Abnormality of the upper urinary tract	4570	MT-TN	OMIM:220110
HP:0010935	Abnormality of the upper urinary tract	142680	SLC34A3	OMIM:241530
HP:0010935	Abnormality of the upper urinary tract	57570	TRMT5	OMIM:616539
HP:0010935	Abnormality of the upper urinary tract	5824	PEX19	OMIM:614886
HP:0010935	Abnormality of the upper urinary tract	84334	COA8	ORPHA:436271
HP:0010935	Abnormality of the upper urinary tract	540	ATP7B	OMIM:277900
HP:0010935	Abnormality of the upper urinary tract	2260	FGFR1	OMIM:613001
HP:0010935	Abnormality of the upper urinary tract	6095	RORA	OMIM:618060
HP:0010935	Abnormality of the upper urinary tract	8425	LTBP4	OMIM:613177
HP:0010935	Abnormality of the upper urinary tract	81857	MED25	OMIM:616449
HP:0010935	Abnormality of the upper urinary tract	81857	MED25	ORPHA:464738
HP:0010935	Abnormality of the upper urinary tract	10093	ARPC4	OMIM:620141
HP:0010935	Abnormality of the upper urinary tract	197131	UBR1	OMIM:243800
HP:0010935	Abnormality of the upper urinary tract	197131	UBR1	ORPHA:2315
HP:0010935	Abnormality of the upper urinary tract	93210	PGAP3	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	284098	PIGW	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	27315	PGAP2	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	55650	PIGV	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	4001	LMNB1	OMIM:619179
HP:0010935	Abnormality of the upper urinary tract	815	CAMK2A	OMIM:617798
HP:0010935	Abnormality of the upper urinary tract	92579	G6PC3	OMIM:612541
HP:0010935	Abnormality of the upper urinary tract	7994	KAT6A	ORPHA:457193
HP:0010935	Abnormality of the upper urinary tract	7994	KAT6A	OMIM:616268
HP:0010935	Abnormality of the upper urinary tract	23116	TOGARAM1	OMIM:619185
HP:0010935	Abnormality of the upper urinary tract	3981	LIG4	ORPHA:235
HP:0010935	Abnormality of the upper urinary tract	54888	NSUN2	ORPHA:235
HP:0010935	Abnormality of the upper urinary tract	79971	WLS	OMIM:619648
HP:0010935	Abnormality of the upper urinary tract	2065	ERBB3	OMIM:607598
HP:0010935	Abnormality of the upper urinary tract	4683	NBN	OMIM:251260
HP:0010935	Abnormality of the upper urinary tract	5648	MASP1	OMIM:257920
HP:0010935	Abnormality of the upper urinary tract	388015	RTL1	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	8788	DLK1	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	55384	MEG3	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	389827	MYMK	ORPHA:1358
HP:0010935	Abnormality of the upper urinary tract	101929726	MYMX	ORPHA:1358
HP:0010935	Abnormality of the upper urinary tract	5604	MAP2K1	ORPHA:1340
HP:0010935	Abnormality of the upper urinary tract	5605	MAP2K2	ORPHA:1340
HP:0010935	Abnormality of the upper urinary tract	2019	EN1	OMIM:619218
HP:0010935	Abnormality of the upper urinary tract	6469	SHH	OMIM:142945
HP:0010935	Abnormality of the upper urinary tract	23111	SPART	ORPHA:101000
HP:0010935	Abnormality of the upper urinary tract	10526	IPO8	OMIM:619472
HP:0010935	Abnormality of the upper urinary tract	2892	GRIA3	ORPHA:364028
HP:0010935	Abnormality of the upper urinary tract	55617	TASP1	OMIM:618950
HP:0010935	Abnormality of the upper urinary tract	202018	TAPT1	OMIM:616897
HP:0010935	Abnormality of the upper urinary tract	5426	POLE	ORPHA:85173
HP:0010935	Abnormality of the upper urinary tract	9897	WASHC5	OMIM:220210
HP:0010935	Abnormality of the upper urinary tract	9897	WASHC5	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	10491	CRTAP	OMIM:610682
HP:0010935	Abnormality of the upper urinary tract	5236	PGM1	OMIM:614921
HP:0010935	Abnormality of the upper urinary tract	219844	HYLS1	OMIM:236680
HP:0010935	Abnormality of the upper urinary tract	28952	CCDC22	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	6913	TBX15	OMIM:260660
HP:0010935	Abnormality of the upper urinary tract	375056	MIA3	OMIM:619269
HP:0010935	Abnormality of the upper urinary tract	7421	VDR	ORPHA:93160
HP:0010935	Abnormality of the upper urinary tract	776	CACNA1D	OMIM:615474
HP:0010935	Abnormality of the upper urinary tract	776	CACNA1D	ORPHA:369929
HP:0010935	Abnormality of the upper urinary tract	1119	CHKA	OMIM:620023
HP:0010935	Abnormality of the upper urinary tract	1491	CTH	ORPHA:212
HP:0010935	Abnormality of the upper urinary tract	153642	ARSK	OMIM:619698
HP:0010935	Abnormality of the upper urinary tract	3756	KCNH1	OMIM:135500
HP:0010935	Abnormality of the upper urinary tract	2200	FBN1	ORPHA:2833
HP:0010935	Abnormality of the upper urinary tract	3872	KRT17	ORPHA:841
HP:0010935	Abnormality of the upper urinary tract	10555	AGPAT2	OMIM:608594
HP:0010935	Abnormality of the upper urinary tract	5333	PLCD1	ORPHA:2387
HP:0010935	Abnormality of the upper urinary tract	9049	AIP	OMIM:219090
HP:0010935	Abnormality of the upper urinary tract	9101	USP8	OMIM:219090
HP:0010935	Abnormality of the upper urinary tract	6505	SLC1A1	OMIM:222730
HP:0010935	Abnormality of the upper urinary tract	26580	BSCL2	OMIM:269700
HP:0010935	Abnormality of the upper urinary tract	9368	NHERF1	OMIM:612287
HP:0010935	Abnormality of the upper urinary tract	8622	PDE8B	ORPHA:189439
HP:0010935	Abnormality of the upper urinary tract	50940	PDE11A	ORPHA:189439
HP:0010935	Abnormality of the upper urinary tract	92667	MGME1	ORPHA:352447
HP:0010935	Abnormality of the upper urinary tract	2947	GSTM3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	7040	TGFB1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	2729	GCLC	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	1084	CEACAM3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	6556	SLC11A1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	51164	DCTN4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	3783	KCNN4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	4282	MIF	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	6550	SLC9A3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	115019	SLC26A9	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	3077	HFE	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	11254	SLC6A14	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	22802	CLCA4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	4680	CEACAM6	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	9581	PREPL	ORPHA:163690
HP:0010935	Abnormality of the upper urinary tract	9581	PREPL	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	5495	PPM1B	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	79823	CAMKMT	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	1026	CDKN1A	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	1030	CDKN2B	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	1031	CDKN2C	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	9075	CLDN2	OMIM:301060
HP:0010935	Abnormality of the upper urinary tract	6476	SI	OMIM:222900
HP:0010935	Abnormality of the upper urinary tract	55367	PIDD1	OMIM:619827
HP:0010935	Abnormality of the upper urinary tract	871	SERPINH1	OMIM:613848
HP:0010935	Abnormality of the upper urinary tract	6720	SREBF1	OMIM:158310
HP:0010935	Abnormality of the upper urinary tract	23395	LARS2	OMIM:617021
HP:0010935	Abnormality of the upper urinary tract	10413	YAP1	ORPHA:1473
HP:0010935	Abnormality of the upper urinary tract	10413	YAP1	OMIM:120433
HP:0010935	Abnormality of the upper urinary tract	55109	AGGF1	ORPHA:90308
HP:0010935	Abnormality of the upper urinary tract	2159	F10	ORPHA:328
HP:0010935	Abnormality of the upper urinary tract	2153	F5	ORPHA:326
HP:0010935	Abnormality of the upper urinary tract	84818	IL17RC	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	64581	CLEC7A	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	23765	IL17RA	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	10758	TRAF3IP2	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	112744	IL17F	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	6711	SPTBN1	OMIM:619475
HP:0010935	Abnormality of the upper urinary tract	5345	SERPINF2	ORPHA:79
HP:0010935	Abnormality of the upper urinary tract	3998	LMAN1	ORPHA:35909
HP:0010935	Abnormality of the upper urinary tract	90411	MCFD2	ORPHA:35909
HP:0010935	Abnormality of the upper urinary tract	6786	STIM1	OMIM:185070
HP:0010935	Abnormality of the upper urinary tract	3673	ITGA2	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	135228	CD109	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	2658	GDF2	ORPHA:774
HP:0010935	Abnormality of the upper urinary tract	94	ACVRL1	ORPHA:774
HP:0010935	Abnormality of the upper urinary tract	4089	SMAD4	ORPHA:774
HP:0010935	Abnormality of the upper urinary tract	2022	ENG	ORPHA:774
HP:0010935	Abnormality of the upper urinary tract	5213	PFKM	OMIM:232800
HP:0010935	Abnormality of the upper urinary tract	5371	PML	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	5914	RARA	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	359948	IRF2BP2	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	81608	FIP1L1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	4869	NPM1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	64859	NABP1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	6777	STAT5B	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	4926	NUMA1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	7704	ZBTB16	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	79718	TBL1XR1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	2629	GBA1	ORPHA:77261
HP:0010935	Abnormality of the upper urinary tract	2629	GBA1	ORPHA:77259
HP:0010935	Abnormality of the upper urinary tract	1777	DNASE2	OMIM:619858
HP:0010935	Abnormality of the upper urinary tract	712	C1QA	OMIM:613652
HP:0010935	Abnormality of the upper urinary tract	5238	PGM3	ORPHA:443811
HP:0010935	Abnormality of the upper urinary tract	5238	PGM3	OMIM:615816
HP:0010935	Abnormality of the upper urinary tract	5105	PCK1	OMIM:261680
HP:0010935	Abnormality of the upper urinary tract	5106	PCK2	OMIM:261650
HP:0010935	Abnormality of the upper urinary tract	57465	TBC1D24	OMIM:220500
HP:0010935	Abnormality of the upper urinary tract	9526	MPDU1	OMIM:609180
HP:0010935	Abnormality of the upper urinary tract	9526	MPDU1	ORPHA:79323
HP:0010935	Abnormality of the upper urinary tract	2108	ETFA	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	2109	ETFB	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	2110	ETFDH	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	7498	XDH	OMIM:278300
HP:0010935	Abnormality of the upper urinary tract	4337	MOCS1	OMIM:252150
HP:0010935	Abnormality of the upper urinary tract	4338	MOCS2	OMIM:252160
HP:0010935	Abnormality of the upper urinary tract	779	CACNA1S	ORPHA:423
HP:0010935	Abnormality of the upper urinary tract	101101692	HELLPAR	ORPHA:244242
HP:0010935	Abnormality of the upper urinary tract	6948	TCN2	ORPHA:859
HP:0010935	Abnormality of the upper urinary tract	6773	STAT2	OMIM:618886
HP:0010935	Abnormality of the upper urinary tract	226	ALDOA	ORPHA:57
HP:0010935	Abnormality of the upper urinary tract	3949	LDLR	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	255738	PCSK9	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	26119	LDLRAP1	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	338	APOB	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	64240	ABCG5	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	64241	ABCG8	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	5456	POU3F4	ORPHA:1435
HP:0010935	Abnormality of the upper urinary tract	1374	CPT1A	ORPHA:156
HP:0010935	Abnormality of the upper urinary tract	1374	CPT1A	OMIM:255120
HP:0010935	Abnormality of the upper urinary tract	525	ATP6V1B1	OMIM:267300
HP:0010935	Abnormality of the upper urinary tract	57551	TAOK1	OMIM:619575
HP:0010935	Abnormality of the upper urinary tract	26235	FBXL4	OMIM:615471
HP:0010935	Abnormality of the upper urinary tract	133686	NADK2	ORPHA:431361
HP:0010935	Abnormality of the upper urinary tract	5257	PHKB	ORPHA:79240
HP:0010935	Abnormality of the upper urinary tract	5256	PHKA2	ORPHA:264580
HP:0010935	Abnormality of the upper urinary tract	5261	PHKG2	ORPHA:264580
HP:0010935	Abnormality of the upper urinary tract	790	CAD	OMIM:616457
HP:0010935	Abnormality of the upper urinary tract	63894	VIPAS39	OMIM:613404
HP:0010935	Abnormality of the upper urinary tract	6514	SLC2A2	ORPHA:2088
HP:0010935	Abnormality of the upper urinary tract	100	ADA	OMIM:102700
HP:0010935	Abnormality of the upper urinary tract	57107	PDSS2	ORPHA:255249
HP:0010935	Abnormality of the upper urinary tract	11222	MRPL3	OMIM:614582
HP:0010935	Abnormality of the upper urinary tract	83480	PUS3	ORPHA:488627
HP:0010935	Abnormality of the upper urinary tract	617	BCS1L	OMIM:124000
HP:0010935	Abnormality of the upper urinary tract	84300	UQCC2	OMIM:615824
HP:0010935	Abnormality of the upper urinary tract	5091	PC	OMIM:266150
HP:0010935	Abnormality of the upper urinary tract	760	CA2	ORPHA:2785
HP:0010935	Abnormality of the upper urinary tract	11281	POU6F2	OMIM:601583
HP:0010935	Abnormality of the upper urinary tract	11281	POU6F2	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	716	C1S	OMIM:617174
HP:0010935	Abnormality of the upper urinary tract	9759	HDAC4	ORPHA:1001
HP:0010935	Abnormality of the upper urinary tract	5978	REST	OMIM:616806
HP:0010935	Abnormality of the upper urinary tract	5978	REST	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	60529	ALX4	ORPHA:52022
HP:0010935	Abnormality of the upper urinary tract	51317	PHF21A	ORPHA:52022
HP:0010935	Abnormality of the upper urinary tract	10155	TRIM28	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	283120	H19	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	283120	H19	ORPHA:2128
HP:0010935	Abnormality of the upper urinary tract	283120	H19	OMIM:194070
HP:0010935	Abnormality of the upper urinary tract	5727	PTCH1	ORPHA:77301
HP:0010935	Abnormality of the upper urinary tract	641	BLM	ORPHA:125
HP:0010935	Abnormality of the upper urinary tract	9184	BUB3	ORPHA:1052
HP:0010935	Abnormality of the upper urinary tract	9702	CEP57	ORPHA:1052
HP:0010935	Abnormality of the upper urinary tract	4591	TRIM37	OMIM:253250
HP:0010935	Abnormality of the upper urinary tract	6662	SOX9	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	6845	VAMP7	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	51741	WWOX	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	4214	MAP3K1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	2516	NR5A1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	58524	DMRT3	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	57647	DHX37	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	23414	ZFPM2	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	190	NR0B1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	2626	GATA4	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	161742	SPRED1	ORPHA:137605
HP:0010935	Abnormality of the upper urinary tract	2147	F2	ORPHA:325
HP:0010935	Abnormality of the upper urinary tract	54585	LZTFL1	OMIM:615994
HP:0010935	Abnormality of the upper urinary tract	10677	AVIL	OMIM:618594
HP:0010935	Abnormality of the upper urinary tract	137682	NDUFAF6	OMIM:618913
HP:0010935	Abnormality of the upper urinary tract	137682	NDUFAF6	ORPHA:3337
HP:0010935	Abnormality of the upper urinary tract	10847	SRCAP	ORPHA:2044
HP:0010935	Abnormality of the upper urinary tract	8526	DGKE	OMIM:615008
HP:0010935	Abnormality of the upper urinary tract	977	CD151	OMIM:609057
HP:0010935	Abnormality of the upper urinary tract	79693	YRDC	OMIM:619609
HP:0010935	Abnormality of the upper urinary tract	3913	LAMB2	OMIM:609049
HP:0010935	Abnormality of the upper urinary tract	3913	LAMB2	OMIM:614199
HP:0010935	Abnormality of the upper urinary tract	55764	IFT122	OMIM:218330
HP:0010935	Abnormality of the upper urinary tract	55863	TMEM126B	OMIM:618250
HP:0010935	Abnormality of the upper urinary tract	149461	CLDN19	OMIM:248190
HP:0010935	Abnormality of the upper urinary tract	10253	SPRY2	OMIM:616818
HP:0010935	Abnormality of the upper urinary tract	93649	MYOCD	OMIM:618719
HP:0010935	Abnormality of the upper urinary tract	50484	RRM2B	OMIM:268315
HP:0010935	Abnormality of the upper urinary tract	64127	NOD2	ORPHA:90340
HP:0010935	Abnormality of the upper urinary tract	1288	COL4A6	ORPHA:1018
HP:0010935	Abnormality of the upper urinary tract	9158	FIBP	OMIM:617107
HP:0010935	Abnormality of the upper urinary tract	9158	FIBP	ORPHA:500095
HP:0010935	Abnormality of the upper urinary tract	54914	FOCAD	OMIM:619991
HP:0010935	Abnormality of the upper urinary tract	22858	CILK1	OMIM:612651
HP:0010935	Abnormality of the upper urinary tract	10568	SLC34A2	ORPHA:60025
HP:0010935	Abnormality of the upper urinary tract	5828	PEX2	OMIM:614866
HP:0010935	Abnormality of the upper urinary tract	5189	PEX1	OMIM:214100
HP:0010935	Abnormality of the upper urinary tract	10682	EBP	OMIM:300960
HP:0010935	Abnormality of the upper urinary tract	9578	CDC42BPB	OMIM:619841
HP:0010935	Abnormality of the upper urinary tract	348180	CTU2	OMIM:618142
HP:0010935	Abnormality of the upper urinary tract	25914	RTTN	ORPHA:468631
HP:0010935	Abnormality of the upper urinary tract	8802	SUCLG1	ORPHA:17
HP:0010935	Abnormality of the upper urinary tract	84992	PIGY	OMIM:616809
HP:0010935	Abnormality of the upper urinary tract	3075	CFH	OMIM:609814
HP:0010935	Abnormality of the upper urinary tract	5194	PEX13	OMIM:614883
HP:0010935	Abnormality of the upper urinary tract	2317	FLNB	ORPHA:1190
HP:0010935	Abnormality of the upper urinary tract	11231	SEC63	ORPHA:2924
HP:0010935	Abnormality of the upper urinary tract	5589	PRKCSH	ORPHA:2924
HP:0010935	Abnormality of the upper urinary tract	4041	LRP5	ORPHA:2924
HP:0010935	Abnormality of the upper urinary tract	1186	CLCN7	OMIM:618541
HP:0010935	Abnormality of the upper urinary tract	8449	DHX16	OMIM:618733
HP:0010935	Abnormality of the upper urinary tract	10015	PDCD6IP	OMIM:620047
HP:0010935	Abnormality of the upper urinary tract	2591	GALNT3	OMIM:211900
HP:0010935	Abnormality of the upper urinary tract	4036	LRP2	OMIM:222448
HP:0010935	Abnormality of the upper urinary tract	11093	ADAMTS13	OMIM:274150
HP:0010935	Abnormality of the upper urinary tract	55858	TMEM165	OMIM:614727
HP:0010935	Abnormality of the upper urinary tract	4179	CD46	OMIM:612922
HP:0010935	Abnormality of the upper urinary tract	629	CFB	OMIM:612924
HP:0010935	Abnormality of the upper urinary tract	7056	THBD	OMIM:612926
HP:0010935	Abnormality of the upper urinary tract	3078	CFHR1	OMIM:235400
HP:0010935	Abnormality of the upper urinary tract	10878	CFHR3	OMIM:235400
HP:0010935	Abnormality of the upper urinary tract	54	ACP5	OMIM:607944
HP:0010935	Abnormality of the upper urinary tract	2632	GBE1	OMIM:232500
HP:0010935	Abnormality of the upper urinary tract	84168	ANTXR1	OMIM:230740
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	ORPHA:892
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	OMIM:193300
HP:0010935	Abnormality of the upper urinary tract	6714	SRC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	10395	DLC1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	8313	AXIN2	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5782	PTPN12	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5320	PLA2G2A	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	6790	AURKA	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	1630	DCC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	27030	MLH3	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	581	BAX	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	25788	RAD54B	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	699	BUB1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	701	BUB1B	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	7097	TLR2	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	4163	MCC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5157	PDGFRL	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5795	PTPRJ	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	7030	TFE3	OMIM:300854
HP:0010935	Abnormality of the upper urinary tract	79798	ARMC5	ORPHA:189427
HP:0010935	Abnormality of the upper urinary tract	2778	GNAS	ORPHA:189427
HP:0010935	Abnormality of the upper urinary tract	8314	BAP1	OMIM:614327
HP:0010935	Abnormality of the upper urinary tract	4968	OGG1	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	11236	RNF139	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	55193	PBRM1	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	9817	KEAP1	ORPHA:276399
HP:0010935	Abnormality of the upper urinary tract	23405	DICER1	ORPHA:276399
HP:0010935	Abnormality of the upper urinary tract	7373	COL14A1	ORPHA:79501
HP:0010935	Abnormality of the upper urinary tract	79719	AAGAB	ORPHA:79501
HP:0010935	Abnormality of the upper urinary tract	10229	COQ7	OMIM:616733
HP:0010935	Abnormality of the upper urinary tract	11274	USP18	OMIM:617397
HP:0010935	Abnormality of the upper urinary tract	55191	NADSYN1	OMIM:618845
HP:0010935	Abnormality of the upper urinary tract	57724	EPG5	ORPHA:1493
HP:0010935	Abnormality of the upper urinary tract	538	ATP7A	OMIM:304150
HP:0010935	Abnormality of the upper urinary tract	2304	FOXE1	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	3026	HABP2	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	9562	MINPP1	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	4233	MET	OMIM:605074
HP:0010935	Abnormality of the upper urinary tract	5546	PRCC	OMIM:605074
HP:0010935	Abnormality of the upper urinary tract	4598	MVK	OMIM:260920
HP:0010935	Abnormality of the upper urinary tract	1027	CDKN1B	OMIM:610755
HP:0010935	Abnormality of the upper urinary tract	1027	CDKN1B	ORPHA:276152
HP:0010935	Abnormality of the upper urinary tract	50617	ATP6V0A4	OMIM:602722
HP:0010935	Abnormality of the upper urinary tract	129563	DIS3L2	OMIM:267000
HP:0010935	Abnormality of the upper urinary tract	1314	COPA	OMIM:616414
HP:0010935	Abnormality of the upper urinary tract	26873	OPLAH	OMIM:260005
HP:0010935	Abnormality of the upper urinary tract	55811	ADCY10	ORPHA:2197
HP:0010935	Abnormality of the upper urinary tract	55811	ADCY10	OMIM:143870
HP:0010935	Abnormality of the upper urinary tract	51256	TBC1D7	OMIM:248000
HP:0010935	Abnormality of the upper urinary tract	112817	HOGA1	OMIM:613616
HP:0010935	Abnormality of the upper urinary tract	112817	HOGA1	ORPHA:93600
HP:0010935	Abnormality of the upper urinary tract	153201	SLC36A2	OMIM:138500
HP:0010935	Abnormality of the upper urinary tract	27238	GPKOW	ORPHA:2570
HP:0010935	Abnormality of the upper urinary tract	1718	DHCR24	ORPHA:35107
HP:0010935	Abnormality of the upper urinary tract	5075	PAX1	ORPHA:2792
HP:0010935	Abnormality of the upper urinary tract	10262	SF3B4	ORPHA:1788
HP:0010935	Abnormality of the upper urinary tract	10210	TOPORS	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	9851	KIAA0753	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	65250	CPLANE1	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	317662	FAM149B1	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	374654	KIF7	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	9573	GDF3	ORPHA:2345
HP:0010935	Abnormality of the upper urinary tract	4222	MEOX1	ORPHA:2345
HP:0010935	Abnormality of the upper urinary tract	2811	GP1BA	ORPHA:274
HP:0010935	Abnormality of the upper urinary tract	2815	GP9	ORPHA:274
HP:0010935	Abnormality of the upper urinary tract	4292	MLH1	ORPHA:587
HP:0010935	Abnormality of the upper urinary tract	2956	MSH6	ORPHA:587
HP:0010935	Abnormality of the upper urinary tract	4436	MSH2	ORPHA:587
HP:0010935	Abnormality of the upper urinary tract	126792	B3GALT6	ORPHA:536467
HP:0010935	Abnormality of the upper urinary tract	201163	FLCN	OMIM:135150
HP:0010935	Abnormality of the upper urinary tract	25913	POT1	OMIM:616568
HP:0010935	Abnormality of the upper urinary tract	64218	SEMA4A	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	657	BMPR1A	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	7486	WRN	ORPHA:902
HP:0010935	Abnormality of the upper urinary tract	7157	TP53	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	1029	CDKN2A	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	11200	CHEK2	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	1499	CTNNB1	ORPHA:873
HP:0010935	Abnormality of the upper urinary tract	117581	TWIST2	ORPHA:1807
HP:0010935	Abnormality of the upper urinary tract	6774	STAT3	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	2258	FGF13	OMIM:301058
HP:0010935	Abnormality of the upper urinary tract	1182	CLCN3	OMIM:619512
HP:0010935	Abnormality of the upper urinary tract	10398	MYL9	OMIM:619365
HP:0010935	Abnormality of the upper urinary tract	93627	TBCK	OMIM:616900
HP:0010935	Abnormality of the upper urinary tract	10472	ZBTB18	OMIM:612337
HP:0010935	Abnormality of the upper urinary tract	91179	SCARF2	OMIM:600920
HP:0010935	Abnormality of the upper urinary tract	5297	PI4KA	OMIM:619708
HP:0010935	Abnormality of the upper urinary tract	1859	DYRK1A	ORPHA:268261
HP:0010935	Abnormality of the upper urinary tract	26281	FGF20	OMIM:615721
HP:0010935	Abnormality of the upper urinary tract	2674	GFRA1	OMIM:619887
HP:0010935	Abnormality of the upper urinary tract	8516	ITGA8	OMIM:191830
HP:0010935	Abnormality of the upper urinary tract	1758	DMP1	ORPHA:289176
HP:0010935	Abnormality of the upper urinary tract	5167	ENPP1	ORPHA:289176
HP:0010935	Abnormality of the upper urinary tract	4174	MCM5	OMIM:617564
HP:0010935	Abnormality of the upper urinary tract	10149	ADGRG2	ORPHA:48
HP:0010935	Abnormality of the upper urinary tract	1080	CFTR	ORPHA:48
HP:0010935	Abnormality of the upper urinary tract	11146	GLMN	ORPHA:83454
HP:0010935	Abnormality of the upper urinary tract	55690	PACS1	ORPHA:329224
HP:0010935	Abnormality of the upper urinary tract	5053	PAH	ORPHA:2209
HP:0010935	Abnormality of the upper urinary tract	5551	PRF1	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	8676	STX11	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	201294	UNC13D	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	6813	STXBP2	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	1019	CDK4	ORPHA:99971
HP:0010935	Abnormality of the upper urinary tract	7276	TTR	ORPHA:85447
HP:0010935	Abnormality of the upper urinary tract	1534	CYB561	OMIM:618182
HP:0010935	Abnormality of the upper urinary tract	3081	HGD	OMIM:203500
HP:0010935	Abnormality of the upper urinary tract	113179	ADAT3	ORPHA:363528
HP:0010935	Abnormality of the upper urinary tract	8074	FGF23	OMIM:617993
HP:0010935	Abnormality of the upper urinary tract	1861	TOR1A	OMIM:618947
HP:0010935	Abnormality of the upper urinary tract	3716	JAK1	OMIM:618999
HP:0010935	Abnormality of the upper urinary tract	25959	KANK2	OMIM:617783
HP:0010935	Abnormality of the upper urinary tract	26005	C2CD3	OMIM:615948
HP:0010935	Abnormality of the upper urinary tract	8367	H4C5	OMIM:619950
HP:0010935	Abnormality of the upper urinary tract	1063	CENPF	OMIM:243605
HP:0010935	Abnormality of the upper urinary tract	5081	PAX7	OMIM:618578
HP:0010935	Abnormality of the upper urinary tract	2157	F8	ORPHA:169802
HP:0010935	Abnormality of the upper urinary tract	3674	ITGA2B	ORPHA:849
HP:0010935	Abnormality of the upper urinary tract	3690	ITGB3	ORPHA:849
HP:0010935	Abnormality of the upper urinary tract	2639	GCDH	ORPHA:25
HP:0010935	Abnormality of the upper urinary tract	10686	CLDN16	OMIM:248250
HP:0010935	Abnormality of the upper urinary tract	5837	PYGM	ORPHA:368
HP:0010935	Abnormality of the upper urinary tract	4914	NTRK1	ORPHA:642
HP:0010935	Abnormality of the upper urinary tract	5498	PPOX	ORPHA:79473
HP:0010935	Abnormality of the upper urinary tract	54938	SARS2	OMIM:613845
HP:0010935	Abnormality of the upper urinary tract	567	B2M	ORPHA:314652
HP:0010935	Abnormality of the upper urinary tract	91461	PKDCC	OMIM:618821
HP:0010935	Abnormality of the upper urinary tract	6522	SLC4A2	OMIM:620366
HP:0010935	Abnormality of the upper urinary tract	5442	POLRMT	OMIM:619743
HP:0010935	Abnormality of the upper urinary tract	9361	LONP1	ORPHA:79243
HP:0010935	Abnormality of the upper urinary tract	5160	PDHA1	ORPHA:79243
HP:0010935	Abnormality of the upper urinary tract	340533	NEXMIF	OMIM:300912
HP:0010935	Abnormality of the upper urinary tract	403	ARL3	OMIM:618161
HP:0010935	Abnormality of the upper urinary tract	6521	SLC4A1	OMIM:179800
HP:0010935	Abnormality of the upper urinary tract	7535	ZAP70	OMIM:617006
HP:0010935	Abnormality of the upper urinary tract	57104	PNPLA2	ORPHA:565612
HP:0010935	Abnormality of the upper urinary tract	7289	TULP3	OMIM:619902
HP:0010935	Abnormality of the upper urinary tract	2212	FCGR2A	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	2213	FCGR2B	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	1773	DNASE1	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	55898	UNC45A	OMIM:619377
HP:0010935	Abnormality of the upper urinary tract	54805	CNNM2	OMIM:613882
HP:0010935	Abnormality of the upper urinary tract	183	AGT	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	185	AGTR1	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	1636	ACE	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	6261	RYR1	ORPHA:466650
HP:0010935	Abnormality of the upper urinary tract	788	SLC25A20	ORPHA:159
HP:0010935	Abnormality of the upper urinary tract	894	CCND2	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	5296	PIK3R2	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	10000	AKT3	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	55784	MCTP2	ORPHA:1596
HP:0010935	Abnormality of the upper urinary tract	22930	RAB3GAP1	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	25782	RAB3GAP2	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	22931	RAB18	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	128637	TBC1D20	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	5781	PTPN11	ORPHA:500
HP:0010935	Abnormality of the upper urinary tract	673	BRAF	ORPHA:500
HP:0010935	Abnormality of the upper urinary tract	5894	RAF1	ORPHA:500
HP:0010935	Abnormality of the upper urinary tract	50945	TBX22	ORPHA:921
HP:0010935	Abnormality of the upper urinary tract	51322	WAC	ORPHA:466950
HP:0010935	Abnormality of the upper urinary tract	4297	KMT2A	ORPHA:319182
HP:0010935	Abnormality of the upper urinary tract	55249	YY1AP1	OMIM:602531
HP:0010935	Abnormality of the upper urinary tract	1281	COL3A1	ORPHA:286
HP:0010935	Abnormality of the upper urinary tract	6772	STAT1	ORPHA:391487
HP:0010935	Abnormality of the upper urinary tract	10043	TOM1	ORPHA:391487
HP:0010935	Abnormality of the upper urinary tract	9896	FIG4	ORPHA:3472
HP:0010935	Abnormality of the upper urinary tract	55697	VAC14	ORPHA:3472
HP:0010935	Abnormality of the upper urinary tract	64131	XYLT1	OMIM:264800
HP:0010935	Abnormality of the upper urinary tract	64132	XYLT2	OMIM:264800
HP:0010935	Abnormality of the upper urinary tract	368	ABCC6	OMIM:264800
HP:0010935	Abnormality of the upper urinary tract	9663	LPIN2	ORPHA:77297
HP:0010935	Abnormality of the upper urinary tract	7454	WAS	ORPHA:906
HP:0010935	Abnormality of the upper urinary tract	7456	WIPF1	ORPHA:906
HP:0010935	Abnormality of the upper urinary tract	84823	LMNB2	ORPHA:79087
HP:0010935	Abnormality of the upper urinary tract	2303	FOXC2	ORPHA:33001
HP:0010935	Abnormality of the upper urinary tract	4552	MTRR	ORPHA:2169
HP:0010935	Abnormality of the upper urinary tract	4000	LMNA	ORPHA:2348
HP:0010935	Abnormality of the upper urinary tract	8671	SLC4A4	OMIM:604278
HP:0010937	Abnormal nasal skeleton morphology	5573	PRKAR1A	ORPHA:280651
HP:0010937	Abnormal nasal skeleton morphology	5144	PDE4D	ORPHA:280651
HP:0010937	Abnormal nasal skeleton morphology	124590	USH1G	OMIM:606943
HP:0010937	Abnormal nasal skeleton morphology	4796	TONSL	ORPHA:93357
HP:0010937	Abnormal nasal skeleton morphology	5727	PTCH1	OMIM:610828
HP:0010937	Abnormal nasal skeleton morphology	7050	TGIF1	OMIM:142946
HP:0010937	Abnormal nasal skeleton morphology	6496	SIX3	OMIM:157170
HP:0010937	Abnormal nasal skeleton morphology	1499	CTNNB1	ORPHA:54595
HP:0010937	Abnormal nasal skeleton morphology	673	BRAF	ORPHA:54595
HP:0010937	Abnormal nasal skeleton morphology	29957	SLC25A24	ORPHA:2095
HP:0010937	Abnormal nasal skeleton morphology	4659	PPP1R12A	OMIM:618820
HP:0010937	Abnormal nasal skeleton morphology	5159	PDGFRB	OMIM:601812
HP:0010937	Abnormal nasal skeleton morphology	60529	ALX4	OMIM:613451
HP:0010937	Abnormal nasal skeleton morphology	7317	UBA1	OMIM:301054
HP:0010936	Abnormality of the lower urinary tract	6772	STAT1	ORPHA:391487
HP:0010936	Abnormality of the lower urinary tract	10043	TOM1	ORPHA:391487
HP:0010936	Abnormality of the lower urinary tract	823	CAPN1	ORPHA:488594
HP:0010936	Abnormality of the lower urinary tract	113189	CHST14	ORPHA:2953
HP:0010936	Abnormality of the lower urinary tract	29940	DSE	ORPHA:2953
HP:0010936	Abnormality of the lower urinary tract	91949	COG7	OMIM:608779
HP:0010936	Abnormality of the lower urinary tract	8504	PEX3	OMIM:617370
HP:0010936	Abnormality of the lower urinary tract	10466	COG5	ORPHA:263487
HP:0010936	Abnormality of the lower urinary tract	10466	COG5	OMIM:613612
HP:0010936	Abnormality of the lower urinary tract	92935	MARS2	OMIM:611390
HP:0010936	Abnormality of the lower urinary tract	55823	VPS11	OMIM:616683
HP:0010936	Abnormality of the lower urinary tract	55823	VPS11	ORPHA:466934
HP:0010936	Abnormality of the lower urinary tract	1161	ERCC8	ORPHA:90324
HP:0010936	Abnormality of the lower urinary tract	2074	ERCC6	ORPHA:90324
HP:0010936	Abnormality of the lower urinary tract	6885	MAP3K7	OMIM:617137
HP:0010936	Abnormality of the lower urinary tract	400916	CHCHD10	OMIM:615911
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276244
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276241
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276238
HP:0010936	Abnormality of the lower urinary tract	493856	CISD2	OMIM:604928
HP:0010936	Abnormality of the lower urinary tract	51112	TRAPPC12	ORPHA:500144
HP:0010936	Abnormality of the lower urinary tract	51112	TRAPPC12	OMIM:617669
HP:0010936	Abnormality of the lower urinary tract	4854	NOTCH3	OMIM:130720
HP:0010936	Abnormality of the lower urinary tract	2782	GNB1	OMIM:616973
HP:0010936	Abnormality of the lower urinary tract	2050	EPHB4	ORPHA:137667
HP:0010936	Abnormality of the lower urinary tract	5921	RASA1	ORPHA:137667
HP:0010936	Abnormality of the lower urinary tract	9915	ARNT2	OMIM:615926
HP:0010936	Abnormality of the lower urinary tract	5354	PLP1	ORPHA:280229
HP:0010936	Abnormality of the lower urinary tract	10667	FARS2	ORPHA:466722
HP:0010936	Abnormality of the lower urinary tract	23499	MACF1	ORPHA:572013
HP:0010936	Abnormality of the lower urinary tract	387119	CEP85L	ORPHA:572013
HP:0010936	Abnormality of the lower urinary tract	6904	TBCD	ORPHA:496641
HP:0010936	Abnormality of the lower urinary tract	1185	CLCN6	OMIM:619173
HP:0010936	Abnormality of the lower urinary tract	1136	CHRNA3	OMIM:191800
HP:0010936	Abnormality of the lower urinary tract	64834	ELOVL1	OMIM:618527
HP:0010936	Abnormality of the lower urinary tract	123263	MTFMT	OMIM:618248
HP:0010936	Abnormality of the lower urinary tract	2019	EN1	OMIM:619218
HP:0010936	Abnormality of the lower urinary tract	3110	MNX1	OMIM:176450
HP:0010936	Abnormality of the lower urinary tract	2697	GJA1	ORPHA:2710
HP:0010936	Abnormality of the lower urinary tract	2697	GJA1	OMIM:164200
HP:0010936	Abnormality of the lower urinary tract	2632	GBE1	ORPHA:206583
HP:0010936	Abnormality of the lower urinary tract	2632	GBE1	OMIM:263570
HP:0010936	Abnormality of the lower urinary tract	81839	VANGL1	OMIM:600145
HP:0010936	Abnormality of the lower urinary tract	7466	WFS1	OMIM:222300
HP:0010936	Abnormality of the lower urinary tract	23400	ATP13A2	ORPHA:513436
HP:0010936	Abnormality of the lower urinary tract	3980	LIG3	OMIM:619780
HP:0010936	Abnormality of the lower urinary tract	25793	FBXO7	ORPHA:171695
HP:0010936	Abnormality of the lower urinary tract	6622	SNCA	ORPHA:171695
HP:0010936	Abnormality of the lower urinary tract	55331	ACER3	OMIM:617762
HP:0010936	Abnormality of the lower urinary tract	80199	FUZ	ORPHA:1136
HP:0010936	Abnormality of the lower urinary tract	84667	HES7	OMIM:613686
HP:0010936	Abnormality of the lower urinary tract	93627	TBCK	ORPHA:488632
HP:0010936	Abnormality of the lower urinary tract	5498	PPOX	ORPHA:79473
HP:0010936	Abnormality of the lower urinary tract	9897	WASHC5	OMIM:603563
HP:0010936	Abnormality of the lower urinary tract	9897	WASHC5	ORPHA:100989
HP:0010936	Abnormality of the lower urinary tract	51062	ATL1	ORPHA:100984
HP:0010936	Abnormality of the lower urinary tract	51062	ATL1	OMIM:182600
HP:0010936	Abnormality of the lower urinary tract	23111	SPART	OMIM:275900
HP:0010936	Abnormality of the lower urinary tract	7840	ALMS1	ORPHA:64
HP:0010936	Abnormality of the lower urinary tract	87178	PNPT1	ORPHA:101111
HP:0010936	Abnormality of the lower urinary tract	87178	PNPT1	OMIM:608703
HP:0010936	Abnormality of the lower urinary tract	65018	PINK1	OMIM:605909
HP:0010936	Abnormality of the lower urinary tract	6683	SPAST	ORPHA:100985
HP:0010936	Abnormality of the lower urinary tract	6683	SPAST	OMIM:182601
HP:0010936	Abnormality of the lower urinary tract	59341	TRPV4	OMIM:606071
HP:0010936	Abnormality of the lower urinary tract	3748	KCNC3	ORPHA:98768
HP:0010936	Abnormality of the lower urinary tract	27235	COQ2	OMIM:146500
HP:0010936	Abnormality of the lower urinary tract	6687	SPG7	ORPHA:99013
HP:0010936	Abnormality of the lower urinary tract	6687	SPG7	OMIM:607259
HP:0010936	Abnormality of the lower urinary tract	23503	ZFYVE26	OMIM:270700
HP:0010936	Abnormality of the lower urinary tract	25814	ATXN10	ORPHA:98761
HP:0010936	Abnormality of the lower urinary tract	25814	ATXN10	OMIM:603516
HP:0010936	Abnormality of the lower urinary tract	123606	NIPA1	OMIM:600363
HP:0010936	Abnormality of the lower urinary tract	478	ATP1A3	OMIM:601338
HP:0010936	Abnormality of the lower urinary tract	9442	MED27	OMIM:619286
HP:0010936	Abnormality of the lower urinary tract	6253	RTN2	OMIM:604805
HP:0010936	Abnormality of the lower urinary tract	6253	RTN2	ORPHA:100993
HP:0010936	Abnormality of the lower urinary tract	27102	EIF2AK1	OMIM:618878
HP:0010936	Abnormality of the lower urinary tract	26278	SACS	OMIM:270550
HP:0010936	Abnormality of the lower urinary tract	80208	SPG11	OMIM:604360
HP:0010936	Abnormality of the lower urinary tract	8913	CACNA1G	ORPHA:458803
HP:0010936	Abnormality of the lower urinary tract	8913	CACNA1G	OMIM:616795
HP:0010936	Abnormality of the lower urinary tract	215	ABCD1	ORPHA:139399
HP:0010936	Abnormality of the lower urinary tract	3329	HSPD1	OMIM:605280
HP:0010936	Abnormality of the lower urinary tract	3329	HSPD1	ORPHA:100994
HP:0010936	Abnormality of the lower urinary tract	84188	FAR1	ORPHA:447753
HP:0010936	Abnormality of the lower urinary tract	5832	ALDH18A1	ORPHA:447753
HP:0010936	Abnormality of the lower urinary tract	5832	ALDH18A1	OMIM:601162
HP:0010936	Abnormality of the lower urinary tract	51271	UBAP1	ORPHA:100993
HP:0010936	Abnormality of the lower urinary tract	51271	UBAP1	OMIM:618418
HP:0010936	Abnormality of the lower urinary tract	126129	CPT1C	ORPHA:444099
HP:0010936	Abnormality of the lower urinary tract	3798	KIF5A	ORPHA:100991
HP:0010936	Abnormality of the lower urinary tract	3798	KIF5A	OMIM:604187
HP:0010936	Abnormality of the lower urinary tract	3839	KPNA3	ORPHA:171612
HP:0010936	Abnormality of the lower urinary tract	84842	HPDL	OMIM:619027
HP:0010936	Abnormality of the lower urinary tract	5297	PI4KA	OMIM:619621
HP:0010936	Abnormality of the lower urinary tract	65055	REEP1	OMIM:610250
HP:0010936	Abnormality of the lower urinary tract	2583	B4GALNT1	OMIM:609195
HP:0010936	Abnormality of the lower urinary tract	1200	TPP1	OMIM:609270
HP:0010936	Abnormality of the lower urinary tract	2783	GNB2	OMIM:619503
HP:0010936	Abnormality of the lower urinary tract	2747	GLUD2	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	126	ADH1C	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4137	MAPT	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	2629	GBA1	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4929	NR4A2	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6908	TBP	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4576	MT-TT	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	9627	SNCAIP	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6311	ATXN2	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6315	ATXN8OS	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	79152	FA2H	OMIM:612319
HP:0010936	Abnormality of the lower urinary tract	4001	LMNB1	ORPHA:99027
HP:0010936	Abnormality of the lower urinary tract	595	CCND1	ORPHA:29073
HP:0010936	Abnormality of the lower urinary tract	11160	ERLIN2	ORPHA:247604
HP:0010936	Abnormality of the lower urinary tract	1277	COL1A1	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	1289	COL5A1	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	1290	COL5A2	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	ORPHA:565
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	ORPHA:198
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	OMIM:304150
HP:0010936	Abnormality of the lower urinary tract	5351	PLOD1	OMIM:225400
HP:0010936	Abnormality of the lower urinary tract	1278	COL1A2	OMIM:617821
HP:0010936	Abnormality of the lower urinary tract	57167	SALL4	ORPHA:959
HP:0010936	Abnormality of the lower urinary tract	6804	STX1A	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	7461	CLIP2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	84277	DNAJC30	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	8468	FKBP6	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	5982	RFC2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	2969	GTF2I	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	3984	LIMK1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	9569	GTF2IRD1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	155382	VPS37D	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	155368	METTL27	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	114049	BUD23	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	7458	EIF4H	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	84163	GTF2IRD2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	9275	BCL7B	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	26608	TBL2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	653361	NCF1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	135886	TMEM270	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	9031	BAZ1B	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	55033	FKBP14	OMIM:614557
HP:0010936	Abnormality of the lower urinary tract	816	CAMK2B	OMIM:617799
HP:0010936	Abnormality of the lower urinary tract	100134444	KCNJ18	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	2556	GABRA3	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	779	CACNA1S	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	3431	SP110	ORPHA:79124
HP:0010936	Abnormality of the lower urinary tract	7040	TGFB1	ORPHA:1328
HP:0010936	Abnormality of the lower urinary tract	5621	PRNP	OMIM:600072
HP:0010936	Abnormality of the lower urinary tract	2131	EXT1	ORPHA:321
HP:0010936	Abnormality of the lower urinary tract	2132	EXT2	ORPHA:321
HP:0010936	Abnormality of the lower urinary tract	171023	ASXL1	ORPHA:97297
HP:0010936	Abnormality of the lower urinary tract	4665	NAB2	ORPHA:2126
HP:0010936	Abnormality of the lower urinary tract	6778	STAT6	ORPHA:2126
HP:0010936	Abnormality of the lower urinary tract	291	SLC25A4	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	5428	POLG	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	56652	TWNK	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	11232	POLG2	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	50484	RRM2B	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	8398	PLA2G6	OMIM:612953
HP:0010936	Abnormality of the lower urinary tract	1621	DBH	ORPHA:230
HP:0010936	Abnormality of the lower urinary tract	1621	DBH	OMIM:223360
HP:0010936	Abnormality of the lower urinary tract	353	APRT	ORPHA:976
HP:0010936	Abnormality of the lower urinary tract	55906	ZC4H2	OMIM:301041
HP:0010936	Abnormality of the lower urinary tract	6513	SLC2A1	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2562	GABRB3	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2554	GABRA1	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	8912	CACNA1H	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	8629	JRK	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2566	GABRG2	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	340533	NEXMIF	OMIM:300912
HP:0010936	Abnormality of the lower urinary tract	23345	SYNE1	ORPHA:88644
HP:0010936	Abnormality of the lower urinary tract	23446	SLC44A1	OMIM:618868
HP:0010936	Abnormality of the lower urinary tract	22880	MORC2	OMIM:616688
HP:0010936	Abnormality of the lower urinary tract	22880	MORC2	ORPHA:466768
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	ORPHA:352641
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	ORPHA:320391
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	OMIM:614409
HP:0010936	Abnormality of the lower urinary tract	1786	DNMT1	ORPHA:314404
HP:0010936	Abnormality of the lower urinary tract	4803	NGF	OMIM:608654
HP:0010936	Abnormality of the lower urinary tract	57216	VANGL2	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	6347	CCL2	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	6862	TBXT	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	274	BIN1	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	64419	MTMR14	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	4618	MYF6	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	1785	DNM2	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	6261	RYR1	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	OMIM:249900
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309271
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309263
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309256
HP:0010936	Abnormality of the lower urinary tract	3074	HEXB	ORPHA:309162
HP:0010936	Abnormality of the lower urinary tract	3074	HEXB	OMIM:268800
HP:0010936	Abnormality of the lower urinary tract	10479	SLC9A6	OMIM:300243
HP:0010936	Abnormality of the lower urinary tract	81790	RNF170	OMIM:619686
HP:0010936	Abnormality of the lower urinary tract	6335	SCN9A	OMIM:243000
HP:0010936	Abnormality of the lower urinary tract	8878	SQSTM1	OMIM:617145
HP:0010936	Abnormality of the lower urinary tract	5610	EIF2AK2	OMIM:618877
HP:0010936	Abnormality of the lower urinary tract	128486	FITM2	OMIM:618635
HP:0010936	Abnormality of the lower urinary tract	2581	GALC	ORPHA:206448
HP:0010936	Abnormality of the lower urinary tract	3508	IGHMBP2	OMIM:604320
HP:0010936	Abnormality of the lower urinary tract	100996717	NOTCH2NLC	OMIM:603472
HP:0010936	Abnormality of the lower urinary tract	90161	HS6ST2	OMIM:301025
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309271
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309263
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309256
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	OMIM:250100
HP:0010936	Abnormality of the lower urinary tract	2590	GALNT2	OMIM:618885
HP:0010936	Abnormality of the lower urinary tract	51319	RSRC1	OMIM:618402
HP:0010936	Abnormality of the lower urinary tract	54463	RETREG1	OMIM:613115
HP:0010936	Abnormality of the lower urinary tract	6575	SLC20A2	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	5155	PDGFB	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	5155	PDGFB	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	5159	PDGFRB	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	549	AUH	OMIM:250950
HP:0010936	Abnormality of the lower urinary tract	7276	TTR	OMIM:105210
HP:0010936	Abnormality of the lower urinary tract	10273	STUB1	OMIM:618093
HP:0010936	Abnormality of the lower urinary tract	1137	CHRNA4	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1135	CHRNA2	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57010	CABP4	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1141	CHRNB2	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57582	KCNT1	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1392	CRH	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	9681	DEPDC5	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57531	HACE1	ORPHA:464282
HP:0010936	Abnormality of the lower urinary tract	9420	CYP7B1	OMIM:270800
HP:0010936	Abnormality of the lower urinary tract	2332	FMR1	OMIM:300623
HP:0010936	Abnormality of the lower urinary tract	9907	AP5Z1	OMIM:613647
HP:0010936	Abnormality of the lower urinary tract	9907	AP5Z1	ORPHA:306511
HP:0010936	Abnormality of the lower urinary tract	4747	NEFL	ORPHA:101085
HP:0010936	Abnormality of the lower urinary tract	28982	FLVCR1	OMIM:609033
HP:0010936	Abnormality of the lower urinary tract	3752	KCND3	ORPHA:98772
HP:0010936	Abnormality of the lower urinary tract	2261	FGFR3	OMIM:616482
HP:0010936	Abnormality of the lower urinary tract	56978	PRDM8	OMIM:616640
HP:0010936	Abnormality of the lower urinary tract	23259	DDHD2	OMIM:615033
HP:0010936	Abnormality of the lower urinary tract	2548	GAA	OMIM:232300
HP:0010936	Abnormality of the lower urinary tract	92609	TIMM50	OMIM:617698
HP:0010936	Abnormality of the lower urinary tract	92609	TIMM50	ORPHA:505216
HP:0010936	Abnormality of the lower urinary tract	8314	BAP1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	4771	NF2	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	84231	TRAF7	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	6608	SMO	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	207	AKT1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	5290	PIK3CA	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	51684	SUFU	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	80025	PANK2	OMIM:234200
HP:0010936	Abnormality of the lower urinary tract	724066	ATXN8	ORPHA:98760
HP:0010936	Abnormality of the lower urinary tract	51611	DPH5	OMIM:620070
HP:0010936	Abnormality of the lower urinary tract	283446	MYO1H	OMIM:619482
HP:0010936	Abnormality of the lower urinary tract	2521	FUS	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	10280	SIGMAR1	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	10558	SPTLC1	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	57679	ALS2	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	57679	ALS2	OMIM:205100
HP:0010936	Abnormality of the lower urinary tract	57679	ALS2	OMIM:607225
HP:0010936	Abnormality of the lower urinary tract	6305	SBF1	OMIM:615284
HP:0010936	Abnormality of the lower urinary tract	7204	TRIO	ORPHA:476126
HP:0010936	Abnormality of the lower urinary tract	3145	HMBS	OMIM:176000
HP:0010936	Abnormality of the lower urinary tract	3145	HMBS	ORPHA:79276
HP:0010936	Abnormality of the lower urinary tract	25978	CHMP2B	OMIM:600795
HP:0010936	Abnormality of the lower urinary tract	1315	COPB1	OMIM:619255
HP:0010936	Abnormality of the lower urinary tract	7415	VCP	ORPHA:329478
HP:0010936	Abnormality of the lower urinary tract	22943	DKK1	ORPHA:268882
HP:0010936	Abnormality of the lower urinary tract	2678	GGT1	OMIM:231950
HP:0010936	Abnormality of the lower urinary tract	9757	KMT2B	OMIM:619934
HP:0010936	Abnormality of the lower urinary tract	6509	SLC1A4	ORPHA:447997
HP:0010936	Abnormality of the lower urinary tract	84978	FRMD5	OMIM:620094
HP:0010936	Abnormality of the lower urinary tract	5654	HTRA1	OMIM:600142
HP:0010936	Abnormality of the lower urinary tract	80217	CFAP43	OMIM:236690
HP:0010936	Abnormality of the lower urinary tract	7305	TYROBP	OMIM:221770
HP:0010936	Abnormality of the lower urinary tract	57165	GJC2	OMIM:613206
HP:0010936	Abnormality of the lower urinary tract	55081	IFT57	OMIM:617927
HP:0010936	Abnormality of the lower urinary tract	3119	HLA-DQB1	OMIM:126200
HP:0010936	Abnormality of the lower urinary tract	5133	PDCD1	OMIM:126200
HP:0010936	Abnormality of the lower urinary tract	3123	HLA-DRB1	OMIM:126200
HP:0010936	Abnormality of the lower urinary tract	72	ACTG2	OMIM:155310
HP:0010936	Abnormality of the lower urinary tract	72	ACTG2	OMIM:619431
HP:0010936	Abnormality of the lower urinary tract	72	ACTG2	ORPHA:2604
HP:0010936	Abnormality of the lower urinary tract	72	ACTG2	ORPHA:2241
HP:0010936	Abnormality of the lower urinary tract	10398	MYL9	OMIM:619365
HP:0010936	Abnormality of the lower urinary tract	5566	PRKACA	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	5567	PRKACB	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2735	GLI1	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2121	EVC	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2121	EVC	OMIM:225500
HP:0010936	Abnormality of the lower urinary tract	51626	DYNC2LI1	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	132884	EVC2	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	132884	EVC2	OMIM:225500
HP:0010936	Abnormality of the lower urinary tract	29123	ANKRD11	OMIM:148050
HP:0010936	Abnormality of the lower urinary tract	26005	C2CD3	ORPHA:434179
HP:0010936	Abnormality of the lower urinary tract	26005	C2CD3	OMIM:615948
HP:0010936	Abnormality of the lower urinary tract	1857	DVL3	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	7474	WNT5A	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	1855	DVL1	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	2535	FZD2	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	3845	KRAS	ORPHA:3339
HP:0010936	Abnormality of the lower urinary tract	9791	PTDSS1	ORPHA:2658
HP:0010936	Abnormality of the lower urinary tract	6736	SRY	ORPHA:1772
HP:0010936	Abnormality of the lower urinary tract	63895	PIEZO2	ORPHA:2461
HP:0010936	Abnormality of the lower urinary tract	8626	TP63	ORPHA:93930
HP:0010936	Abnormality of the lower urinary tract	3670	ISL1	ORPHA:93930
HP:0010936	Abnormality of the lower urinary tract	81620	CDT1	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	5000	ORC4	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	23594	ORC6	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	990	CDC6	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	4998	ORC1	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	51053	GMNN	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	4089	SMAD4	ORPHA:2588
HP:0010936	Abnormality of the lower urinary tract	54539	NDUFB11	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	1349	COX7B	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	3052	HCCS	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	26235	FBXL4	OMIM:615471
HP:0010936	Abnormality of the lower urinary tract	1947	EFNB1	ORPHA:1520
HP:0010936	Abnormality of the lower urinary tract	1947	EFNB1	OMIM:304110
HP:0010936	Abnormality of the lower urinary tract	4204	MECP2	ORPHA:1762
HP:0010936	Abnormality of the lower urinary tract	4204	MECP2	OMIM:300260
HP:0010936	Abnormality of the lower urinary tract	6938	TCF12	OMIM:619718
HP:0010936	Abnormality of the lower urinary tract	9820	CUL7	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	9820	CUL7	OMIM:273750
HP:0010936	Abnormality of the lower urinary tract	23363	OBSL1	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	83987	CCDC8	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	81857	MED25	OMIM:616449
HP:0010936	Abnormality of the lower urinary tract	81857	MED25	ORPHA:464738
HP:0010936	Abnormality of the lower urinary tract	1736	DKC1	OMIM:305000
HP:0010936	Abnormality of the lower urinary tract	79848	CSPP1	ORPHA:397715
HP:0010936	Abnormality of the lower urinary tract	9786	KIAA0586	ORPHA:397715
HP:0010936	Abnormality of the lower urinary tract	267010	RNU12	OMIM:603116
HP:0010936	Abnormality of the lower urinary tract	5932	RBBP8	OMIM:606744
HP:0010936	Abnormality of the lower urinary tract	116931	MED12L	OMIM:618872
HP:0010936	Abnormality of the lower urinary tract	9578	CDC42BPB	OMIM:619841
HP:0010936	Abnormality of the lower urinary tract	1586	CYP17A1	ORPHA:90796
HP:0010936	Abnormality of the lower urinary tract	1586	CYP17A1	ORPHA:90793
HP:0010936	Abnormality of the lower urinary tract	8239	USP9X	OMIM:300919
HP:0010936	Abnormality of the lower urinary tract	5189	PEX1	OMIM:214100
HP:0010936	Abnormality of the lower urinary tract	5189	PEX1	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	284058	KANSL1	ORPHA:363958
HP:0010936	Abnormality of the lower urinary tract	284058	KANSL1	ORPHA:363965
HP:0010936	Abnormality of the lower urinary tract	4853	NOTCH2	OMIM:102500
HP:0010936	Abnormality of the lower urinary tract	4853	NOTCH2	ORPHA:955
HP:0010936	Abnormality of the lower urinary tract	7020	TFAP2A	OMIM:113620
HP:0010936	Abnormality of the lower urinary tract	23347	SMCHD1	OMIM:603457
HP:0010936	Abnormality of the lower urinary tract	10815	CPLX1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	10815	CPLX1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	54872	PIGG	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	7469	NELFA	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	1487	CTBP1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	1487	CTBP1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	3954	LETM1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	3954	LETM1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	7468	NSD2	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	7468	NSD2	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	54968	TMEM70	OMIM:614052
HP:0010936	Abnormality of the lower urinary tract	54968	TMEM70	ORPHA:1194
HP:0010936	Abnormality of the lower urinary tract	833	CARS1	OMIM:618891
HP:0010936	Abnormality of the lower urinary tract	80776	B9D2	OMIM:614175
HP:0010936	Abnormality of the lower urinary tract	57178	ZMIZ1	OMIM:618659
HP:0010936	Abnormality of the lower urinary tract	8642	DCHS1	OMIM:601390
HP:0010936	Abnormality of the lower urinary tract	8642	DCHS1	ORPHA:314679
HP:0010936	Abnormality of the lower urinary tract	26040	SETBP1	OMIM:269150
HP:0010936	Abnormality of the lower urinary tract	26040	SETBP1	ORPHA:798
HP:0010936	Abnormality of the lower urinary tract	2316	FLNA	ORPHA:90652
HP:0010936	Abnormality of the lower urinary tract	2316	FLNA	OMIM:304120
HP:0010936	Abnormality of the lower urinary tract	3981	LIG4	ORPHA:235
HP:0010936	Abnormality of the lower urinary tract	54888	NSUN2	ORPHA:235
HP:0010936	Abnormality of the lower urinary tract	8260	NAA10	OMIM:309800
HP:0010936	Abnormality of the lower urinary tract	8260	NAA10	ORPHA:568
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	OMIM:309800
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	ORPHA:568
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	OMIM:300166
HP:0010936	Abnormality of the lower urinary tract	54914	FOCAD	OMIM:619991
HP:0010936	Abnormality of the lower urinary tract	8363	H4C11	OMIM:619759
HP:0010936	Abnormality of the lower urinary tract	5590	PRKCZ	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	2563	GABRD	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	23013	SPEN	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	8510	MMP23B	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	7798	LUZP1	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	6497	SKI	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	10630	PDPN	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	3339	HSPG2	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	10277	UBE4B	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	8514	KCNAB2	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	473	RERE	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	473	RERE	ORPHA:494344
HP:0010936	Abnormality of the lower urinary tract	473	RERE	OMIM:616975
HP:0010936	Abnormality of the lower urinary tract	63976	PRDM16	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	54897	CASZ1	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	ORPHA:459070
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	OMIM:300998
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	ORPHA:435938
HP:0010936	Abnormality of the lower urinary tract	1859	DYRK1A	ORPHA:464311
HP:0010936	Abnormality of the lower urinary tract	1859	DYRK1A	ORPHA:268261
HP:0010936	Abnormality of the lower urinary tract	2263	FGFR2	OMIM:123790
HP:0010936	Abnormality of the lower urinary tract	9772	TMEM94	OMIM:618316
HP:0010936	Abnormality of the lower urinary tract	79633	FAT4	ORPHA:314679
HP:0010936	Abnormality of the lower urinary tract	79633	FAT4	OMIM:615546
HP:0010936	Abnormality of the lower urinary tract	2239	GPC4	ORPHA:373
HP:0010936	Abnormality of the lower urinary tract	2239	GPC4	OMIM:312870
HP:0010936	Abnormality of the lower urinary tract	2719	GPC3	ORPHA:373
HP:0010936	Abnormality of the lower urinary tract	2719	GPC3	OMIM:312870
HP:0010936	Abnormality of the lower urinary tract	2260	FGFR1	OMIM:166250
HP:0010936	Abnormality of the lower urinary tract	2260	FGFR1	OMIM:615465
HP:0010936	Abnormality of the lower urinary tract	25836	NIPBL	OMIM:122470
HP:0010936	Abnormality of the lower urinary tract	25836	NIPBL	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	9725	TMEM63A	OMIM:618688
HP:0010936	Abnormality of the lower urinary tract	7476	WNT7A	OMIM:276820
HP:0010936	Abnormality of the lower urinary tract	79087	ALG12	ORPHA:79324
HP:0010936	Abnormality of the lower urinary tract	79087	ALG12	OMIM:607143
HP:0010936	Abnormality of the lower urinary tract	9896	FIG4	OMIM:216340
HP:0010936	Abnormality of the lower urinary tract	9896	FIG4	ORPHA:3472
HP:0010936	Abnormality of the lower urinary tract	6135	RPL11	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6138	RPL15	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6229	RPS24	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6125	RPL5	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6204	RPS10	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6224	RPS20	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6165	RPL35A	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6165	RPL35A	OMIM:612528
HP:0010936	Abnormality of the lower urinary tract	2623	GATA1	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6223	RPS19	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6232	RPS27	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6231	RPS26	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	11224	RPL35	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6160	RPL31	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6218	RPS17	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6201	RPS7	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6155	RPL27	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6154	RPL26	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6210	RPS15A	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	90121	TSR2	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6141	RPL18	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6235	RPS29	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6234	RPS28	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	51816	ADA2	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	1523	CUX1	OMIM:618330
HP:0010936	Abnormality of the lower urinary tract	5426	POLE	OMIM:618336
HP:0010936	Abnormality of the lower urinary tract	5426	POLE	ORPHA:85173
HP:0010936	Abnormality of the lower urinary tract	81603	TRIM8	OMIM:619428
HP:0010936	Abnormality of the lower urinary tract	2737	GLI3	ORPHA:672
HP:0010936	Abnormality of the lower urinary tract	2737	GLI3	ORPHA:36
HP:0010936	Abnormality of the lower urinary tract	2737	GLI3	OMIM:175700
HP:0010936	Abnormality of the lower urinary tract	2737	GLI3	ORPHA:93322
HP:0010936	Abnormality of the lower urinary tract	22827	PUF60	ORPHA:508498
HP:0010936	Abnormality of the lower urinary tract	6477	SIAH1	OMIM:619314
HP:0010936	Abnormality of the lower urinary tract	8473	OGT	OMIM:300997
HP:0010936	Abnormality of the lower urinary tract	10765	KDM5B	OMIM:618109
HP:0010936	Abnormality of the lower urinary tract	5308	PITX2	ORPHA:782
HP:0010936	Abnormality of the lower urinary tract	5308	PITX2	OMIM:180500
HP:0010936	Abnormality of the lower urinary tract	2296	FOXC1	ORPHA:782
HP:0010936	Abnormality of the lower urinary tract	374654	KIF7	ORPHA:36
HP:0010936	Abnormality of the lower urinary tract	374654	KIF7	OMIM:200990
HP:0010936	Abnormality of the lower urinary tract	27125	AFF4	ORPHA:444077
HP:0010936	Abnormality of the lower urinary tract	1387	CREBBP	ORPHA:353281
HP:0010936	Abnormality of the lower urinary tract	1387	CREBBP	OMIM:180849
HP:0010936	Abnormality of the lower urinary tract	1387	CREBBP	ORPHA:353277
HP:0010936	Abnormality of the lower urinary tract	29998	BICRA	OMIM:619325
HP:0010936	Abnormality of the lower urinary tract	2033	EP300	ORPHA:353284
HP:0010936	Abnormality of the lower urinary tract	2033	EP300	OMIM:180849
HP:0010936	Abnormality of the lower urinary tract	26128	KIFBP	ORPHA:66629
HP:0010936	Abnormality of the lower urinary tract	3039	HBA1	ORPHA:98791
HP:0010936	Abnormality of the lower urinary tract	3040	HBA2	ORPHA:98791
HP:0010936	Abnormality of the lower urinary tract	4703	NEB	OMIM:619334
HP:0010936	Abnormality of the lower urinary tract	4703	NEB	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	51132	RLIM	OMIM:300978
HP:0010936	Abnormality of the lower urinary tract	6928	HNF1B	OMIM:137920
HP:0010936	Abnormality of the lower urinary tract	6928	HNF1B	ORPHA:93111
HP:0010936	Abnormality of the lower urinary tract	50945	TBX22	OMIM:302905
HP:0010936	Abnormality of the lower urinary tract	50945	TBX22	ORPHA:921
HP:0010936	Abnormality of the lower urinary tract	284654	RSPO1	OMIM:610644
HP:0010936	Abnormality of the lower urinary tract	1312	COMT	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	221037	JMJD1C	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	2812	GP1BB	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	6239	RREB1	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	6899	TBX1	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	7290	HIRA	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	9632	SEC24C	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	7353	UFD1	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	421	ARVCF	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	25942	SIN3A	ORPHA:94065
HP:0010936	Abnormality of the lower urinary tract	25942	SIN3A	OMIM:613406
HP:0010936	Abnormality of the lower urinary tract	10524	KAT5	OMIM:619103
HP:0010936	Abnormality of the lower urinary tract	23522	KAT6B	OMIM:603736
HP:0010936	Abnormality of the lower urinary tract	7317	UBA1	OMIM:301830
HP:0010936	Abnormality of the lower urinary tract	8802	SUCLG1	ORPHA:17
HP:0010936	Abnormality of the lower urinary tract	4700	NDUFA6	OMIM:618253
HP:0010936	Abnormality of the lower urinary tract	5144	PDE4D	ORPHA:439822
HP:0010936	Abnormality of the lower urinary tract	5144	PDE4D	OMIM:614613
HP:0010936	Abnormality of the lower urinary tract	5144	PDE4D	ORPHA:280651
HP:0010936	Abnormality of the lower urinary tract	2475	MTOR	ORPHA:457485
HP:0010936	Abnormality of the lower urinary tract	4990	SIX6	OMIM:206900
HP:0010936	Abnormality of the lower urinary tract	6657	SOX2	OMIM:206900
HP:0010936	Abnormality of the lower urinary tract	6657	SOX2	ORPHA:77298
HP:0010936	Abnormality of the lower urinary tract	6611	SMS	ORPHA:3063
HP:0010936	Abnormality of the lower urinary tract	54809	SAMD9	OMIM:617053
HP:0010936	Abnormality of the lower urinary tract	9851	KIAA0753	OMIM:619479
HP:0010936	Abnormality of the lower urinary tract	145173	B3GLCT	OMIM:261540
HP:0010936	Abnormality of the lower urinary tract	145173	B3GLCT	ORPHA:709
HP:0010936	Abnormality of the lower urinary tract	6711	SPTBN1	OMIM:619475
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	OMIM:151100
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	673	BRAF	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	673	BRAF	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	5894	RAF1	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	2887	GRB10	ORPHA:96182
HP:0010936	Abnormality of the lower urinary tract	2222	FDFT1	OMIM:618156
HP:0010936	Abnormality of the lower urinary tract	374879	ZNF699	OMIM:619488
HP:0010936	Abnormality of the lower urinary tract	1028	CDKN1C	ORPHA:85173
HP:0010936	Abnormality of the lower urinary tract	1028	CDKN1C	OMIM:614732
HP:0010936	Abnormality of the lower urinary tract	1028	CDKN1C	ORPHA:397590
HP:0010936	Abnormality of the lower urinary tract	22995	CEP152	OMIM:613823
HP:0010936	Abnormality of the lower urinary tract	10084	PQBP1	OMIM:309500
HP:0010936	Abnormality of the lower urinary tract	6748	SSR4	OMIM:300934
HP:0010936	Abnormality of the lower urinary tract	219844	HYLS1	OMIM:236680
HP:0010936	Abnormality of the lower urinary tract	28952	CCDC22	ORPHA:7
HP:0010936	Abnormality of the lower urinary tract	55181	SMG8	OMIM:619268
HP:0010936	Abnormality of the lower urinary tract	3735	KARS1	OMIM:619147
HP:0010936	Abnormality of the lower urinary tract	4713	NDUFB7	OMIM:620135
HP:0010936	Abnormality of the lower urinary tract	4702	NDUFA8	OMIM:619272
HP:0010936	Abnormality of the lower urinary tract	10128	LRPPRC	OMIM:220111
HP:0010936	Abnormality of the lower urinary tract	8450	CUL4B	OMIM:300354
HP:0010936	Abnormality of the lower urinary tract	6770	STAR	OMIM:201710
HP:0010936	Abnormality of the lower urinary tract	80144	FRAS1	ORPHA:2052
HP:0010936	Abnormality of the lower urinary tract	80144	FRAS1	OMIM:219000
HP:0010936	Abnormality of the lower urinary tract	23556	PIGN	ORPHA:2059
HP:0010936	Abnormality of the lower urinary tract	9839	ZEB2	OMIM:235730
HP:0010936	Abnormality of the lower urinary tract	9839	ZEB2	ORPHA:261552
HP:0010936	Abnormality of the lower urinary tract	9839	ZEB2	ORPHA:261537
HP:0010936	Abnormality of the lower urinary tract	170302	ARX	OMIM:300004
HP:0010936	Abnormality of the lower urinary tract	170302	ARX	ORPHA:2508
HP:0010936	Abnormality of the lower urinary tract	58	ACTA1	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	131377	KLHL40	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	10324	KLHL41	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	56203	LMOD3	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	22858	CILK1	OMIM:612651
HP:0010936	Abnormality of the lower urinary tract	55780	ERMARD	ORPHA:75857
HP:0010936	Abnormality of the lower urinary tract	9382	COG1	OMIM:611209
HP:0010936	Abnormality of the lower urinary tract	1146	CHRNG	OMIM:265000
HP:0010936	Abnormality of the lower urinary tract	57492	ARID1B	OMIM:135900
HP:0010936	Abnormality of the lower urinary tract	57492	ARID1B	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	672	BRCA1	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	10459	MAD2L2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	7516	XRCC2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	29089	UBE2T	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	675	BRCA2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	55120	FANCL	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2177	FANCD2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2175	FANCA	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2187	FANCB	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2176	FANCC	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2178	FANCE	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2188	FANCF	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2189	FANCG	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	5888	RAD51	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	5889	RAD51C	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	55159	RFWD3	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	83990	BRIP1	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	57697	FANCM	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	79728	PALB2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	84464	SLX4	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2072	ERCC4	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	55215	FANCI	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	7080	NKX2-1	ORPHA:209905
HP:0010936	Abnormality of the lower urinary tract	222663	SCUBE3	OMIM:619184
HP:0010936	Abnormality of the lower urinary tract	55697	VAC14	ORPHA:3472
HP:0010936	Abnormality of the lower urinary tract	79813	EHMT1	OMIM:610253
HP:0010936	Abnormality of the lower urinary tract	83879	CDCA7	OMIM:616910
HP:0010936	Abnormality of the lower urinary tract	53834	FGFRL1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	5080	PAX6	OMIM:194072
HP:0010936	Abnormality of the lower urinary tract	5828	PEX2	OMIM:614866
HP:0010936	Abnormality of the lower urinary tract	5828	PEX2	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	11128	POLR3A	OMIM:264090
HP:0010936	Abnormality of the lower urinary tract	11128	POLR3A	ORPHA:3455
HP:0010936	Abnormality of the lower urinary tract	79228	THOC6	ORPHA:363444
HP:0010936	Abnormality of the lower urinary tract	57459	GATAD2B	ORPHA:363686
HP:0010936	Abnormality of the lower urinary tract	78989	COLEC11	OMIM:265050
HP:0010936	Abnormality of the lower urinary tract	5324	PLAG1	ORPHA:397590
HP:0010936	Abnormality of the lower urinary tract	8091	HMGA2	ORPHA:397590
HP:0010936	Abnormality of the lower urinary tract	9652	SKIC3	OMIM:222470
HP:0010936	Abnormality of the lower urinary tract	10661	KLF1	OMIM:613673
HP:0010936	Abnormality of the lower urinary tract	546	ATRX	OMIM:309580
HP:0010936	Abnormality of the lower urinary tract	546	ATRX	OMIM:301040
HP:0010936	Abnormality of the lower urinary tract	701	BUB1B	OMIM:257300
HP:0010936	Abnormality of the lower urinary tract	157570	ESCO2	OMIM:268300
HP:0010936	Abnormality of the lower urinary tract	157570	ESCO2	ORPHA:2319
HP:0010936	Abnormality of the lower urinary tract	5631	PRPS1	OMIM:300661
HP:0010936	Abnormality of the lower urinary tract	123016	TTC8	OMIM:615985
HP:0010936	Abnormality of the lower urinary tract	7319	UBE2A	ORPHA:163956
HP:0010936	Abnormality of the lower urinary tract	55670	PEX26	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5824	PEX19	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	8799	PEX11B	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	9409	PEX16	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5190	PEX6	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5830	PEX5	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5193	PEX12	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5194	PEX13	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5195	PEX14	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5192	PEX10	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	10075	HUWE1	OMIM:309590
HP:0010936	Abnormality of the lower urinary tract	10159	ATP6AP2	OMIM:301045
HP:0010936	Abnormality of the lower urinary tract	10586	MAB21L2	OMIM:615877
HP:0010936	Abnormality of the lower urinary tract	55593	OTUD5	OMIM:301056
HP:0010936	Abnormality of the lower urinary tract	113179	ADAT3	ORPHA:363528
HP:0010936	Abnormality of the lower urinary tract	55209	SETD5	OMIM:615761
HP:0010936	Abnormality of the lower urinary tract	55784	MCTP2	ORPHA:1596
HP:0010936	Abnormality of the lower urinary tract	8085	KMT2D	ORPHA:2322
HP:0010936	Abnormality of the lower urinary tract	7403	KDM6A	ORPHA:2322
HP:0010936	Abnormality of the lower urinary tract	998	CDC42	OMIM:616737
HP:0010936	Abnormality of the lower urinary tract	998	CDC42	ORPHA:487796
HP:0010936	Abnormality of the lower urinary tract	10982	MAPRE2	OMIM:616734
HP:0010936	Abnormality of the lower urinary tract	10982	MAPRE2	ORPHA:2505
HP:0010936	Abnormality of the lower urinary tract	8831	SYNGAP1	ORPHA:544254
HP:0010936	Abnormality of the lower urinary tract	6597	SMARCA4	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6598	SMARCB1	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6659	SOX4	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	8289	ARID1A	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	5977	DPF2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6601	SMARCC2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6602	SMARCD1	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	196528	ARID2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6605	SMARCE1	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6664	SOX11	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	134701	RIPPLY2	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	10683	DLL3	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	3955	LFNG	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	145873	MESP2	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	23028	KDM1A	ORPHA:477993
HP:0010936	Abnormality of the lower urinary tract	25	ABL1	OMIM:617602
HP:0010936	Abnormality of the lower urinary tract	545	ATR	OMIM:210600
HP:0010936	Abnormality of the lower urinary tract	5116	PCNT	OMIM:210720
HP:0010936	Abnormality of the lower urinary tract	5723	PSPH	ORPHA:79350
HP:0010936	Abnormality of the lower urinary tract	23476	BRD4	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	9126	SMC3	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	8243	SMC1A	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	55869	HDAC8	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	5885	RAD21	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	1589	CYP21A2	OMIM:201910
HP:0010936	Abnormality of the lower urinary tract	25914	RTTN	ORPHA:468631
HP:0010936	Abnormality of the lower urinary tract	4796	TONSL	ORPHA:93357
HP:0010936	Abnormality of the lower urinary tract	202018	TAPT1	OMIM:616897
HP:0010936	Abnormality of the lower urinary tract	4047	LSS	OMIM:618840
HP:0010936	Abnormality of the lower urinary tract	5879	RAC1	OMIM:617751
HP:0010936	Abnormality of the lower urinary tract	5879	RAC1	ORPHA:500159
HP:0010936	Abnormality of the lower urinary tract	51780	KDM3B	OMIM:618846
HP:0010936	Abnormality of the lower urinary tract	4724	NDUFS4	OMIM:252010
HP:0010936	Abnormality of the lower urinary tract	4000	LMNA	ORPHA:1662
HP:0010936	Abnormality of the lower urinary tract	10269	ZMPSTE24	ORPHA:1662
HP:0010936	Abnormality of the lower urinary tract	10269	ZMPSTE24	OMIM:275210
HP:0010936	Abnormality of the lower urinary tract	5718	PSMD12	OMIM:617516
HP:0010936	Abnormality of the lower urinary tract	5573	PRKAR1A	ORPHA:280651
HP:0010936	Abnormality of the lower urinary tract	1468	SLC25A10	OMIM:618972
HP:0010936	Abnormality of the lower urinary tract	203068	TUBB	ORPHA:2505
HP:0010936	Abnormality of the lower urinary tract	5604	MAP2K1	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	3284	HSD3B2	OMIM:201810
HP:0010936	Abnormality of the lower urinary tract	6716	SRD5A2	OMIM:264600
HP:0010936	Abnormality of the lower urinary tract	6716	SRD5A2	ORPHA:753
HP:0010936	Abnormality of the lower urinary tract	367	AR	OMIM:300633
HP:0010936	Abnormality of the lower urinary tract	367	AR	ORPHA:90797
HP:0010936	Abnormality of the lower urinary tract	367	AR	OMIM:312300
HP:0010936	Abnormality of the lower urinary tract	2626	GATA4	OMIM:615542
HP:0010936	Abnormality of the lower urinary tract	131118	DNAJC19	ORPHA:66634
HP:0010936	Abnormality of the lower urinary tract	84314	TMEM107	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	26123	TCTN3	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79867	TCTN2	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79600	TCTN1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	57096	RPGRIP1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	80184	CEP290	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	51259	TMEM216	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79583	TMEM231	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	91147	TMEM67	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79770	TXNDC15	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	27077	B9D1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	23322	RPGRIP1L	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	65062	TMEM237	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	7547	ZIC3	OMIM:314390
HP:0010936	Abnormality of the lower urinary tract	7473	WNT3	OMIM:273395
HP:0010936	Abnormality of the lower urinary tract	25970	SH2B1	ORPHA:261222
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	ORPHA:97362
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	ORPHA:1475
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	OMIM:120330
HP:0010936	Abnormality of the lower urinary tract	5087	PBX1	ORPHA:97362
HP:0010936	Abnormality of the lower urinary tract	5087	PBX1	OMIM:617641
HP:0010936	Abnormality of the lower urinary tract	10617	STAMBP	OMIM:614261
HP:0010936	Abnormality of the lower urinary tract	8294	H4C9	OMIM:619951
HP:0010936	Abnormality of the lower urinary tract	2138	EYA1	OMIM:113650
HP:0010936	Abnormality of the lower urinary tract	2138	EYA1	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	OMIM:113650
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	OMIM:605192
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	54892	NCAPG2	OMIM:618460
HP:0010936	Abnormality of the lower urinary tract	1788	DNMT3A	OMIM:615879
HP:0010936	Abnormality of the lower urinary tract	5361	PLXNA1	OMIM:619955
HP:0010936	Abnormality of the lower urinary tract	4774	NFIA	OMIM:613735
HP:0010936	Abnormality of the lower urinary tract	10992	SF3B2	OMIM:164210
HP:0010936	Abnormality of the lower urinary tract	85358	SHANK3	OMIM:606232
HP:0010936	Abnormality of the lower urinary tract	85358	SHANK3	ORPHA:48652
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	ORPHA:453504
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	OMIM:616580
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	ORPHA:352665
HP:0010936	Abnormality of the lower urinary tract	80114	BICC1	OMIM:601331
HP:0010936	Abnormality of the lower urinary tract	23498	HAAO	OMIM:617660
HP:0010936	Abnormality of the lower urinary tract	51506	UFC1	OMIM:618076
HP:0010936	Abnormality of the lower urinary tract	3313	HSPA9	OMIM:616854
HP:0010936	Abnormality of the lower urinary tract	6092	ROBO2	OMIM:610878
HP:0010936	Abnormality of the lower urinary tract	55636	CHD7	ORPHA:138
HP:0010936	Abnormality of the lower urinary tract	9723	SEMA3E	ORPHA:138
HP:0010936	Abnormality of the lower urinary tract	23005	MAPKBP1	OMIM:617271
HP:0010936	Abnormality of the lower urinary tract	51473	DCDC2	OMIM:617394
HP:0010936	Abnormality of the lower urinary tract	9401	RECQL4	ORPHA:1225
HP:0010936	Abnormality of the lower urinary tract	10616	RBCK1	OMIM:615895
HP:0010936	Abnormality of the lower urinary tract	1108	CHD4	OMIM:617159
HP:0010936	Abnormality of the lower urinary tract	25778	DSTYK	OMIM:610805
HP:0010936	Abnormality of the lower urinary tract	1656	DDX6	OMIM:618653
HP:0010936	Abnormality of the lower urinary tract	2186	BPTF	ORPHA:529962
HP:0010936	Abnormality of the lower urinary tract	5277	PIGA	OMIM:300868
HP:0010936	Abnormality of the lower urinary tract	8550	MAPKAPK5	OMIM:619869
HP:0010936	Abnormality of the lower urinary tract	80781	COL18A1	ORPHA:1571
HP:0010936	Abnormality of the lower urinary tract	5062	PAK2	ORPHA:1571
HP:0010936	Abnormality of the lower urinary tract	54496	PRMT7	ORPHA:464288
HP:0010936	Abnormality of the lower urinary tract	3192	HNRNPU	ORPHA:238769
HP:0010936	Abnormality of the lower urinary tract	4613	MYCN	ORPHA:391641
HP:0010936	Abnormality of the lower urinary tract	253738	EBF3	OMIM:617330
HP:0010936	Abnormality of the lower urinary tract	5530	PPP3CA	OMIM:618265
HP:0010936	Abnormality of the lower urinary tract	9091	PIGQ	OMIM:618548
HP:0010936	Abnormality of the lower urinary tract	84720	PIGO	OMIM:614749
HP:0010936	Abnormality of the lower urinary tract	8405	SPOP	OMIM:618828
HP:0010936	Abnormality of the lower urinary tract	147912	SIX5	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	7227	TRPS1	ORPHA:502
HP:0010936	Abnormality of the lower urinary tract	8204	NRIP1	OMIM:618270
HP:0010936	Abnormality of the lower urinary tract	58508	KMT2C	ORPHA:261652
HP:0010936	Abnormality of the lower urinary tract	253959	RALGAPA1	OMIM:618797
HP:0010936	Abnormality of the lower urinary tract	7148	TNXB	OMIM:615963
HP:0010936	Abnormality of the lower urinary tract	7148	TNXB	OMIM:606408
HP:0010936	Abnormality of the lower urinary tract	182	JAG1	OMIM:118450
HP:0010936	Abnormality of the lower urinary tract	2255	FGF10	ORPHA:2363
HP:0010936	Abnormality of the lower urinary tract	64220	STRA6	ORPHA:2470
HP:0010936	Abnormality of the lower urinary tract	5915	RARB	ORPHA:2470
HP:0010936	Abnormality of the lower urinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	3784	KCNQ1	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	2625	GATA3	ORPHA:2237
HP:0010936	Abnormality of the lower urinary tract	6389	SDHA	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	6390	SDHB	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	6392	SDHD	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	644096	SDHAF1	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	9939	RBM8A	OMIM:274000
HP:0010936	Abnormality of the lower urinary tract	147372	CCBE1	OMIM:235510
HP:0010936	Abnormality of the lower urinary tract	9276	COPB2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	11113	CIT	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	9928	KIF14	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	284403	WDR62	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	55262	TRAPPC14	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	163786	SASS6	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	29920	PYCR2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	84879	MFSD2A	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	4176	MCM7	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	80254	CEP63	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	29081	METTL5	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	23310	NCAPD3	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	55755	CDK5RAP2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	79648	MCPH1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	6491	STIL	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	23141	ANKLE2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	259266	ASPM	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	7109	TRAPPC10	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	1911	PHC1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	6884	TAF13	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	9662	CEP135	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	55835	CENPJ	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	57082	KNL1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	1021	CDK6	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	8295	TRRAP	OMIM:618454
HP:0010936	Abnormality of the lower urinary tract	80000	GREB1L	OMIM:617805
HP:0010936	Abnormality of the lower urinary tract	3293	HSD17B3	ORPHA:752
HP:0010936	Abnormality of the lower urinary tract	3106	HLA-B	ORPHA:36426
HP:0010936	Abnormality of the lower urinary tract	10320	IKZF1	ORPHA:36426
HP:0010936	Abnormality of the lower urinary tract	3209	HOXA13	ORPHA:2438
HP:0010936	Abnormality of the lower urinary tract	3239	HOXD13	ORPHA:887
HP:0010936	Abnormality of the lower urinary tract	9860	LRIG2	ORPHA:2704
HP:0010936	Abnormality of the lower urinary tract	60495	HPSE2	ORPHA:2704
HP:0010936	Abnormality of the lower urinary tract	60495	HPSE2	OMIM:236730
HP:0010936	Abnormality of the lower urinary tract	1741	DLG3	OMIM:300850
HP:0010936	Abnormality of the lower urinary tract	54941	RNF125	OMIM:616260
HP:0010936	Abnormality of the lower urinary tract	54757	FAM20A	OMIM:204690
HP:0010936	Abnormality of the lower urinary tract	54757	FAM20A	ORPHA:1031
HP:0010936	Abnormality of the lower urinary tract	3766	KCNJ10	OMIM:612780
HP:0010936	Abnormality of the lower urinary tract	3766	KCNJ10	ORPHA:199343
HP:0010936	Abnormality of the lower urinary tract	27086	FOXP1	OMIM:613670
HP:0010936	Abnormality of the lower urinary tract	10165	SLC25A13	ORPHA:247585
HP:0010936	Abnormality of the lower urinary tract	189	AGXT	ORPHA:93598
HP:0010936	Abnormality of the lower urinary tract	1760	DMPK	ORPHA:589821
HP:0010936	Abnormality of the lower urinary tract	5442	POLRMT	OMIM:619743
HP:0010936	Abnormality of the lower urinary tract	6559	SLC12A3	OMIM:263800
HP:0010936	Abnormality of the lower urinary tract	6559	SLC12A3	ORPHA:358
HP:0010936	Abnormality of the lower urinary tract	27031	NPHP3	OMIM:604387
HP:0010936	Abnormality of the lower urinary tract	1801	DPH1	ORPHA:459061
HP:0010936	Abnormality of the lower urinary tract	51085	MLXIPL	OMIM:194050
HP:0010936	Abnormality of the lower urinary tract	2006	ELN	OMIM:194050
HP:0010936	Abnormality of the lower urinary tract	1188	CLCNKB	ORPHA:358
HP:0010936	Abnormality of the lower urinary tract	389827	MYMK	ORPHA:1358
HP:0010936	Abnormality of the lower urinary tract	101929726	MYMX	ORPHA:1358
HP:0010936	Abnormality of the lower urinary tract	1717	DHCR7	OMIM:270400
HP:0010936	Abnormality of the lower urinary tract	2516	NR5A1	OMIM:617480
HP:0010936	Abnormality of the lower urinary tract	2516	NR5A1	OMIM:612965
HP:0010936	Abnormality of the lower urinary tract	372	ARCN1	OMIM:617164
HP:0010936	Abnormality of the lower urinary tract	10584	COLEC10	OMIM:248340
HP:0010936	Abnormality of the lower urinary tract	1009	CDH11	ORPHA:1299
HP:0010936	Abnormality of the lower urinary tract	1009	CDH11	OMIM:211380
HP:0010936	Abnormality of the lower urinary tract	5447	POR	OMIM:201750
HP:0010936	Abnormality of the lower urinary tract	7355	SLC35A2	OMIM:300896
HP:0010936	Abnormality of the lower urinary tract	51733	UPB1	OMIM:613161
HP:0010936	Abnormality of the lower urinary tract	5053	PAH	ORPHA:2209
HP:0010936	Abnormality of the lower urinary tract	23533	PIK3R5	ORPHA:64753
HP:0010936	Abnormality of the lower urinary tract	23064	SETX	ORPHA:64753
HP:0010936	Abnormality of the lower urinary tract	1201	CLN3	ORPHA:228346
HP:0010936	Abnormality of the lower urinary tract	51308	REEP2	ORPHA:401849
HP:0010936	Abnormality of the lower urinary tract	51308	REEP2	OMIM:615625
HP:0010936	Abnormality of the lower urinary tract	2670	GFAP	ORPHA:363722
HP:0010936	Abnormality of the lower urinary tract	547	KIF1A	OMIM:610357
HP:0010936	Abnormality of the lower urinary tract	2395	FXN	ORPHA:95
HP:0010936	Abnormality of the lower urinary tract	6310	ATXN1	OMIM:164400
HP:0010936	Abnormality of the lower urinary tract	5376	PMP22	ORPHA:3115
HP:0010936	Abnormality of the lower urinary tract	4359	MPZ	ORPHA:3115
HP:0010936	Abnormality of the lower urinary tract	3178	HNRNPA1	ORPHA:52430
HP:0010936	Abnormality of the lower urinary tract	3181	HNRNPA2B1	ORPHA:52430
HP:0010936	Abnormality of the lower urinary tract	57724	EPG5	OMIM:242840
HP:0010936	Abnormality of the lower urinary tract	10046	MAMLD1	ORPHA:456328
HP:0010936	Abnormality of the lower urinary tract	4534	MTM1	ORPHA:456328
HP:0010936	Abnormality of the lower urinary tract	55157	DARS2	ORPHA:137898
HP:0010936	Abnormality of the lower urinary tract	23317	DNAJC13	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	1981	EIF4G1	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	55737	VPS35	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	120892	LRRK2	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	26058	GIGYF2	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	51360	MBTPS2	ORPHA:85284
HP:0010936	Abnormality of the lower urinary tract	23426	GRIP1	OMIM:617667
HP:0010936	Abnormality of the lower urinary tract	9968	MED12	OMIM:301068
HP:0010936	Abnormality of the lower urinary tract	92002	CCNQ	OMIM:300707
HP:0010936	Abnormality of the lower urinary tract	79796	ALG9	ORPHA:79328
HP:0010936	Abnormality of the lower urinary tract	54361	WNT4	ORPHA:139466
HP:0010936	Abnormality of the lower urinary tract	54361	WNT4	OMIM:611812
HP:0010936	Abnormality of the lower urinary tract	54903	MKS1	OMIM:249000
HP:0010936	Abnormality of the lower urinary tract	54453	RIN2	OMIM:613075
HP:0010936	Abnormality of the lower urinary tract	197131	UBR1	OMIM:243800
HP:0010936	Abnormality of the lower urinary tract	55112	DYNC2I1	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	57560	IFT80	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	57539	WDR35	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	79659	DYNC2H1	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	89891	DYNC2I2	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	5337	PLD1	OMIM:212093
HP:0010936	Abnormality of the lower urinary tract	10606	PAICS	OMIM:619859
HP:0010936	Abnormality of the lower urinary tract	341640	FREM2	OMIM:617666
HP:0010936	Abnormality of the lower urinary tract	57545	CC2D2A	OMIM:612284
HP:0010936	Abnormality of the lower urinary tract	745	MYRF	OMIM:618280
HP:0010936	Abnormality of the lower urinary tract	4714	NDUFB8	OMIM:618252
HP:0010936	Abnormality of the lower urinary tract	6299	SALL1	OMIM:107480
HP:0010936	Abnormality of the lower urinary tract	6299	SALL1	ORPHA:857
HP:0010936	Abnormality of the lower urinary tract	51339	DACT1	ORPHA:857
HP:0010936	Abnormality of the lower urinary tract	554	AVPR2	ORPHA:223
HP:0010936	Abnormality of the lower urinary tract	359	AQP2	ORPHA:223
HP:0010936	Abnormality of the lower urinary tract	23394	ADNP	OMIM:615873
HP:0010936	Abnormality of the lower urinary tract	5575	PRKAR1B	OMIM:619680
HP:0010936	Abnormality of the lower urinary tract	649	BMP1	OMIM:614856
HP:0010936	Abnormality of the lower urinary tract	165918	RNF168	ORPHA:420741
HP:0010936	Abnormality of the lower urinary tract	6524	SLC5A2	OMIM:233100
HP:0010936	Abnormality of the lower urinary tract	339855	KY	OMIM:617114
HP:0010936	Abnormality of the lower urinary tract	3028	HSD17B10	ORPHA:391428
HP:0010936	Abnormality of the lower urinary tract	2294	FOXF1	OMIM:265380
HP:0010936	Abnormality of the lower urinary tract	4638	MYLK	OMIM:249210
HP:0010936	Abnormality of the lower urinary tract	4629	MYH11	OMIM:619351
HP:0010936	Abnormality of the lower urinary tract	25802	LMOD1	OMIM:619362
HP:0010936	Abnormality of the lower urinary tract	93649	MYOCD	OMIM:618719
HP:0010936	Abnormality of the lower urinary tract	3187	HNRNPH1	OMIM:620083
HP:0010936	Abnormality of the lower urinary tract	54796	BNC2	OMIM:618612
HP:0010936	Abnormality of the lower urinary tract	54796	BNC2	ORPHA:93110
HP:0010936	Abnormality of the lower urinary tract	10847	SRCAP	ORPHA:2044
HP:0010936	Abnormality of the lower urinary tract	10847	SRCAP	OMIM:136140
HP:0010936	Abnormality of the lower urinary tract	4281	MID1	OMIM:300000
HP:0010936	Abnormality of the lower urinary tract	1131	CHRM3	ORPHA:2970
HP:0010936	Abnormality of the lower urinary tract	1131	CHRM3	OMIM:100100
HP:0010936	Abnormality of the lower urinary tract	3481	IGF2	OMIM:180860
HP:0010936	Abnormality of the lower urinary tract	64324	NSD1	ORPHA:821
HP:0010936	Abnormality of the lower urinary tract	29072	SETD2	ORPHA:821
HP:0010936	Abnormality of the lower urinary tract	10297	APC2	ORPHA:821
HP:0010936	Abnormality of the lower urinary tract	3655	ITGA6	ORPHA:79403
HP:0010936	Abnormality of the lower urinary tract	3909	LAMA3	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	3918	LAMC2	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	3914	LAMB3	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	4312	MMP1	ORPHA:79408
HP:0010936	Abnormality of the lower urinary tract	1294	COL7A1	ORPHA:79408
HP:0010936	Abnormality of the lower urinary tract	1294	COL7A1	ORPHA:79409
HP:0010936	Abnormality of the lower urinary tract	5422	POLA1	OMIM:301220
HP:0010936	Abnormality of the lower urinary tract	5317	PKP1	ORPHA:158668
HP:0010936	Abnormality of the lower urinary tract	55612	FERMT1	ORPHA:2908
HP:0010936	Abnormality of the lower urinary tract	7750	ZMYM2	OMIM:619522
HP:0010936	Abnormality of the lower urinary tract	2324	FLT4	OMIM:153100
HP:0010936	Abnormality of the lower urinary tract	8318	CDC45	OMIM:617063
HP:0010936	Abnormality of the lower urinary tract	26277	TINF2	OMIM:613990
HP:0010936	Abnormality of the lower urinary tract	8195	MKKS	ORPHA:2473
HP:0010936	Abnormality of the lower urinary tract	7015	TERT	OMIM:613989
HP:0010936	Abnormality of the lower urinary tract	5880	RAC2	OMIM:608203
HP:0010936	Abnormality of the lower urinary tract	8425	LTBP4	OMIM:613177
HP:0010936	Abnormality of the lower urinary tract	4052	LTBP1	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	30008	EFEMP2	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	10516	FBLN5	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	6595	SMARCA2	ORPHA:2728
HP:0010936	Abnormality of the lower urinary tract	1528	CYB5A	OMIM:250790
HP:0010936	Abnormality of the lower urinary tract	1583	CYP11A1	ORPHA:289548
HP:0010936	Abnormality of the lower urinary tract	1583	CYP11A1	ORPHA:168558
HP:0010936	Abnormality of the lower urinary tract	6794	STK11	OMIM:175200
HP:0010936	Abnormality of the lower urinary tract	161742	SPRED1	ORPHA:137605
HP:0010936	Abnormality of the lower urinary tract	5792	PTPRF	OMIM:616001
HP:0010936	Abnormality of the lower urinary tract	55898	UNC45A	OMIM:619377
HP:0010936	Abnormality of the lower urinary tract	64321	SOX17	OMIM:613674
HP:0010936	Abnormality of the lower urinary tract	5339	PLEC	OMIM:226730
HP:0010936	Abnormality of the lower urinary tract	3691	ITGB4	OMIM:226730
HP:0010936	Abnormality of the lower urinary tract	8291	DYSF	ORPHA:268
HP:0010936	Abnormality of the lower urinary tract	4683	NBN	ORPHA:647
HP:0010936	Abnormality of the lower urinary tract	112817	HOGA1	ORPHA:93600
HP:0010936	Abnormality of the lower urinary tract	83550	GPR101	ORPHA:963
HP:0010936	Abnormality of the lower urinary tract	9049	AIP	ORPHA:963
HP:0010936	Abnormality of the lower urinary tract	146206	CARMIL2	OMIM:618131
HP:0010936	Abnormality of the lower urinary tract	3251	HPRT1	ORPHA:79233
HP:0010936	Abnormality of the lower urinary tract	92579	G6PC3	OMIM:612541
HP:0010936	Abnormality of the lower urinary tract	80169	CTC1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55651	NHP2	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	79650	USB1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55135	WRAP53	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	51750	RTEL1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	4869	NPM1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	7012	TERC	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55505	NOP10	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	5073	PARN	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	7298	TYMS	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	627	BDNF	ORPHA:893
HP:0010936	Abnormality of the lower urinary tract	79827	CLMP	ORPHA:2301
HP:0010936	Abnormality of the lower urinary tract	10908	PNPLA6	ORPHA:2377
HP:0010936	Abnormality of the lower urinary tract	2767	GNA11	ORPHA:1556
HP:0010936	Abnormality of the lower urinary tract	151188	ARL6IP6	ORPHA:1556
HP:0010936	Abnormality of the lower urinary tract	1281	COL3A1	OMIM:130050
HP:0010936	Abnormality of the lower urinary tract	1281	COL3A1	ORPHA:286
HP:0010936	Abnormality of the lower urinary tract	4088	SMAD3	OMIM:613795
HP:0010936	Abnormality of the lower urinary tract	7026	NR2F2	OMIM:618901
HP:0010936	Abnormality of the lower urinary tract	6662	SOX9	ORPHA:2138
HP:0010936	Abnormality of the lower urinary tract	6662	SOX9	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	4659	PPP1R12A	OMIM:618820
HP:0010936	Abnormality of the lower urinary tract	57647	DHX37	OMIM:273250
HP:0010936	Abnormality of the lower urinary tract	57647	DHX37	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	6845	VAMP7	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	51741	WWOX	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	4214	MAP3K1	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	7490	WT1	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	58524	DMRT3	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	23414	ZFPM2	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	190	NR0B1	ORPHA:251510
HP:0010939	Abnormal nasal bone morphology	5573	PRKAR1A	ORPHA:280651
HP:0010939	Abnormal nasal bone morphology	5144	PDE4D	ORPHA:280651
HP:0010939	Abnormal nasal bone morphology	124590	USH1G	OMIM:606943
HP:0010939	Abnormal nasal bone morphology	4796	TONSL	ORPHA:93357
HP:0010939	Abnormal nasal bone morphology	1499	CTNNB1	ORPHA:54595
HP:0010939	Abnormal nasal bone morphology	673	BRAF	ORPHA:54595
HP:0010939	Abnormal nasal bone morphology	29957	SLC25A24	ORPHA:2095
HP:0010939	Abnormal nasal bone morphology	4659	PPP1R12A	OMIM:618820
HP:0010939	Abnormal nasal bone morphology	5159	PDGFRB	OMIM:601812
HP:0010939	Abnormal nasal bone morphology	6496	SIX3	OMIM:157170
HP:0010939	Abnormal nasal bone morphology	60529	ALX4	OMIM:613451
HP:0010938	Abnormal external nose morphology	11113	CIT	OMIM:617090
HP:0010938	Abnormal external nose morphology	7528	YY1	ORPHA:506358
HP:0010938	Abnormal external nose morphology	8450	CUL4B	OMIM:300354
HP:0010938	Abnormal external nose morphology	27316	RBMX	OMIM:300238
HP:0010938	Abnormal external nose morphology	9853	RUSC2	OMIM:617773
HP:0010938	Abnormal external nose morphology	83932	SPRTN	OMIM:616200
HP:0010938	Abnormal external nose morphology	26128	KIFBP	OMIM:609460
HP:0010938	Abnormal external nose morphology	55627	SMPD4	OMIM:618622
HP:0010938	Abnormal external nose morphology	8854	ALDH1A2	OMIM:620025
HP:0010938	Abnormal external nose morphology	5447	POR	ORPHA:95699
HP:0010938	Abnormal external nose morphology	1278	COL1A2	ORPHA:230851
HP:0010938	Abnormal external nose morphology	10084	PQBP1	ORPHA:93945
HP:0010938	Abnormal external nose morphology	10084	PQBP1	ORPHA:93946
HP:0010938	Abnormal external nose morphology	10084	PQBP1	OMIM:309500
HP:0010938	Abnormal external nose morphology	4010	LMX1B	ORPHA:495818
HP:0010938	Abnormal external nose morphology	6812	STXBP1	ORPHA:495818
HP:0010938	Abnormal external nose morphology	55690	PACS1	OMIM:615009
HP:0010938	Abnormal external nose morphology	55690	PACS1	ORPHA:329224
HP:0010938	Abnormal external nose morphology	23431	AP4E1	OMIM:613744
HP:0010938	Abnormal external nose morphology	23431	AP4E1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	10978	CLP1	OMIM:615803
HP:0010938	Abnormal external nose morphology	284403	WDR62	OMIM:604317
HP:0010938	Abnormal external nose morphology	84720	PIGO	ORPHA:247262
HP:0010938	Abnormal external nose morphology	93210	PGAP3	ORPHA:247262
HP:0010938	Abnormal external nose morphology	284098	PIGW	ORPHA:247262
HP:0010938	Abnormal external nose morphology	27315	PGAP2	ORPHA:247262
HP:0010938	Abnormal external nose morphology	55650	PIGV	ORPHA:247262
HP:0010938	Abnormal external nose morphology	9487	PIGL	ORPHA:247262
HP:0010938	Abnormal external nose morphology	284058	KANSL1	ORPHA:363958
HP:0010938	Abnormal external nose morphology	284058	KANSL1	ORPHA:363965
HP:0010938	Abnormal external nose morphology	284058	KANSL1	OMIM:610443
HP:0010938	Abnormal external nose morphology	3899	AFF3	OMIM:619297
HP:0010938	Abnormal external nose morphology	1889	ECE1	OMIM:613870
HP:0010938	Abnormal external nose morphology	23184	MESD	OMIM:618644
HP:0010938	Abnormal external nose morphology	55681	SCYL2	OMIM:618766
HP:0010938	Abnormal external nose morphology	1193	CLIC2	ORPHA:324410
HP:0010938	Abnormal external nose morphology	3782	KCNN3	ORPHA:3473
HP:0010938	Abnormal external nose morphology	10717	AP4B1	OMIM:614066
HP:0010938	Abnormal external nose morphology	10717	AP4B1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	11154	AP4S1	OMIM:614067
HP:0010938	Abnormal external nose morphology	11154	AP4S1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	55773	TBC1D23	OMIM:617695
HP:0010938	Abnormal external nose morphology	23461	ABCA5	OMIM:135400
HP:0010938	Abnormal external nose morphology	6660	SOX5	OMIM:616803
HP:0010938	Abnormal external nose morphology	79753	SNIP1	OMIM:614501
HP:0010938	Abnormal external nose morphology	23137	SMC5	OMIM:620185
HP:0010938	Abnormal external nose morphology	55343	SLC35C1	OMIM:266265
HP:0010938	Abnormal external nose morphology	6942	TCF20	OMIM:618430
HP:0010938	Abnormal external nose morphology	92002	CCNQ	ORPHA:140952
HP:0010938	Abnormal external nose morphology	9993	DGCR2	OMIM:192430
HP:0010938	Abnormal external nose morphology	8220	ESS2	OMIM:192430
HP:0010938	Abnormal external nose morphology	8214	DGCR6	OMIM:192430
HP:0010938	Abnormal external nose morphology	54487	DGCR8	OMIM:192430
HP:0010938	Abnormal external nose morphology	6899	TBX1	OMIM:192430
HP:0010938	Abnormal external nose morphology	6899	TBX1	ORPHA:567
HP:0010938	Abnormal external nose morphology	51322	WAC	ORPHA:284169
HP:0010938	Abnormal external nose morphology	51322	WAC	OMIM:616708
HP:0010938	Abnormal external nose morphology	51322	WAC	ORPHA:466950
HP:0010938	Abnormal external nose morphology	9968	MED12	OMIM:300895
HP:0010938	Abnormal external nose morphology	9968	MED12	ORPHA:293707
HP:0010938	Abnormal external nose morphology	4313	MMP2	OMIM:259600
HP:0010938	Abnormal external nose morphology	10195	ALG3	OMIM:601110
HP:0010938	Abnormal external nose morphology	81570	CLPB	OMIM:616271
HP:0010938	Abnormal external nose morphology	8621	CDK13	OMIM:617360
HP:0010938	Abnormal external nose morphology	26173	INTS1	OMIM:618571
HP:0010938	Abnormal external nose morphology	1523	CUX1	OMIM:618330
HP:0010938	Abnormal external nose morphology	3720	JARID2	OMIM:620098
HP:0010938	Abnormal external nose morphology	7227	TRPS1	ORPHA:77258
HP:0010938	Abnormal external nose morphology	7227	TRPS1	ORPHA:502
HP:0010938	Abnormal external nose morphology	10075	HUWE1	OMIM:309590
HP:0010938	Abnormal external nose morphology	10765	KDM5B	OMIM:618109
HP:0010938	Abnormal external nose morphology	2290	FOXG1	OMIM:613454
HP:0010938	Abnormal external nose morphology	2290	FOXG1	ORPHA:261144
HP:0010938	Abnormal external nose morphology	51412	ACTL6B	OMIM:618470
HP:0010938	Abnormal external nose morphology	10847	SRCAP	OMIM:136140
HP:0010938	Abnormal external nose morphology	1436	CSF1R	OMIM:618476
HP:0010938	Abnormal external nose morphology	4953	ODC1	ORPHA:544488
HP:0010938	Abnormal external nose morphology	998	CDC42	OMIM:616737
HP:0010938	Abnormal external nose morphology	998	CDC42	ORPHA:487796
HP:0010938	Abnormal external nose morphology	30008	EFEMP2	OMIM:614437
HP:0010938	Abnormal external nose morphology	23097	CDK19	OMIM:618916
HP:0010938	Abnormal external nose morphology	9179	AP4M1	OMIM:612936
HP:0010938	Abnormal external nose morphology	9179	AP4M1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	79840	NHEJ1	ORPHA:169079
HP:0010938	Abnormal external nose morphology	26224	FBXL3	OMIM:606220
HP:0010938	Abnormal external nose morphology	10735	STAG2	OMIM:301022
HP:0010938	Abnormal external nose morphology	11253	MAN1B1	OMIM:614202
HP:0010938	Abnormal external nose morphology	3759	KCNJ2	OMIM:170390
HP:0010938	Abnormal external nose morphology	3759	KCNJ2	ORPHA:37553
HP:0010938	Abnormal external nose morphology	23389	MED13L	ORPHA:369891
HP:0010938	Abnormal external nose morphology	23389	MED13L	OMIM:616789
HP:0010938	Abnormal external nose morphology	1312	COMT	ORPHA:567
HP:0010938	Abnormal external nose morphology	221037	JMJD1C	ORPHA:567
HP:0010938	Abnormal external nose morphology	2812	GP1BB	ORPHA:567
HP:0010938	Abnormal external nose morphology	6239	RREB1	ORPHA:567
HP:0010938	Abnormal external nose morphology	7290	HIRA	ORPHA:567
HP:0010938	Abnormal external nose morphology	9632	SEC24C	ORPHA:567
HP:0010938	Abnormal external nose morphology	7353	UFD1	ORPHA:567
HP:0010938	Abnormal external nose morphology	421	ARVCF	ORPHA:567
HP:0010938	Abnormal external nose morphology	9496	TBX4	ORPHA:261279
HP:0010938	Abnormal external nose morphology	10524	KAT5	OMIM:619103
HP:0010938	Abnormal external nose morphology	9757	KMT2B	OMIM:617284
HP:0010938	Abnormal external nose morphology	9757	KMT2B	ORPHA:589618
HP:0010938	Abnormal external nose morphology	9757	KMT2B	OMIM:619934
HP:0010938	Abnormal external nose morphology	22808	MRAS	OMIM:618499
HP:0010938	Abnormal external nose morphology	23522	KAT6B	OMIM:603736
HP:0010938	Abnormal external nose morphology	23522	KAT6B	ORPHA:3047
HP:0010938	Abnormal external nose morphology	79644	SRD5A3	OMIM:612713
HP:0010938	Abnormal external nose morphology	57572	DOCK6	OMIM:614219
HP:0010938	Abnormal external nose morphology	158326	FREM1	OMIM:608980
HP:0010938	Abnormal external nose morphology	57003	CCDC47	OMIM:618268
HP:0010938	Abnormal external nose morphology	26005	C2CD3	ORPHA:434179
HP:0010938	Abnormal external nose morphology	10815	CPLX1	OMIM:617976
HP:0010938	Abnormal external nose morphology	1859	DYRK1A	OMIM:614104
HP:0010938	Abnormal external nose morphology	2131	EXT1	ORPHA:502
HP:0010938	Abnormal external nose morphology	80781	COL18A1	OMIM:267750
HP:0010938	Abnormal external nose morphology	8239	USP9X	OMIM:300968
HP:0010938	Abnormal external nose morphology	54870	QRICH1	OMIM:617982
HP:0010938	Abnormal external nose morphology	9702	CEP57	OMIM:614114
HP:0010938	Abnormal external nose morphology	50485	SMARCAL1	OMIM:242900
HP:0010938	Abnormal external nose morphology	118924	FRA10AC1	OMIM:620113
HP:0010938	Abnormal external nose morphology	1376	CPT2	OMIM:608836
HP:0010938	Abnormal external nose morphology	80267	EDEM3	OMIM:619493
HP:0010938	Abnormal external nose morphology	2332	FMR1	ORPHA:261483
HP:0010938	Abnormal external nose morphology	1984	EIF5A	OMIM:619376
HP:0010938	Abnormal external nose morphology	1748	DLX4	OMIM:616788
HP:0010938	Abnormal external nose morphology	54187	NANS	OMIM:610442
HP:0010938	Abnormal external nose morphology	84700	MYO18B	OMIM:616549
HP:0010938	Abnormal external nose morphology	8777	MPDZ	OMIM:615219
HP:0010938	Abnormal external nose morphology	84464	SLX4	OMIM:613951
HP:0010938	Abnormal external nose morphology	55181	SMG8	OMIM:619268
HP:0010938	Abnormal external nose morphology	10844	TUBGCP2	OMIM:618737
HP:0010938	Abnormal external nose morphology	3762	KCNJ5	ORPHA:37553
HP:0010938	Abnormal external nose morphology	1281	COL3A1	OMIM:130050
HP:0010938	Abnormal external nose morphology	1281	COL3A1	OMIM:618343
HP:0010938	Abnormal external nose morphology	3187	HNRNPH1	OMIM:620083
HP:0010938	Abnormal external nose morphology	857	CAV1	OMIM:606721
HP:0010938	Abnormal external nose morphology	10651	MTX2	OMIM:619127
HP:0010938	Abnormal external nose morphology	1182	CLCN3	OMIM:619512
HP:0010938	Abnormal external nose morphology	113179	ADAT3	ORPHA:363528
HP:0010938	Abnormal external nose morphology	54914	FOCAD	OMIM:619991
HP:0010938	Abnormal external nose morphology	5831	PYCR1	OMIM:612940
HP:0010938	Abnormal external nose morphology	5831	PYCR1	OMIM:614438
HP:0010938	Abnormal external nose morphology	5832	ALDH18A1	OMIM:219150
HP:0010938	Abnormal external nose morphology	84942	WDR73	OMIM:251300
HP:0010938	Abnormal external nose morphology	55217	TMLHE	OMIM:300872
HP:0010938	Abnormal external nose morphology	8092	ALX1	OMIM:613456
HP:0010938	Abnormal external nose morphology	8092	ALX1	ORPHA:306542
HP:0010938	Abnormal external nose morphology	79650	USB1	OMIM:604173
HP:0010938	Abnormal external nose morphology	5631	PRPS1	ORPHA:423479
HP:0010938	Abnormal external nose morphology	197131	UBR1	OMIM:243800
HP:0010938	Abnormal external nose morphology	197131	UBR1	ORPHA:2315
HP:0010938	Abnormal external nose morphology	91179	SCARF2	OMIM:600920
HP:0010938	Abnormal external nose morphology	613	BCR	ORPHA:261330
HP:0010938	Abnormal external nose morphology	1399	CRKL	ORPHA:261330
HP:0010938	Abnormal external nose morphology	54101	RIPK4	ORPHA:1234
HP:0010938	Abnormal external nose morphology	54101	RIPK4	OMIM:263650
HP:0010938	Abnormal external nose morphology	1908	EDN3	ORPHA:897
HP:0010938	Abnormal external nose morphology	4286	MITF	ORPHA:897
HP:0010938	Abnormal external nose morphology	4286	MITF	OMIM:193510
HP:0010938	Abnormal external nose morphology	1910	EDNRB	ORPHA:897
HP:0010938	Abnormal external nose morphology	6663	SOX10	ORPHA:897
HP:0010938	Abnormal external nose morphology	6663	SOX10	ORPHA:163746
HP:0010938	Abnormal external nose morphology	55012	PPP2R3C	OMIM:618419
HP:0010938	Abnormal external nose morphology	4598	MVK	OMIM:610377
HP:0010938	Abnormal external nose morphology	5000	ORC4	OMIM:613800
HP:0010938	Abnormal external nose morphology	55699	IARS2	OMIM:616007
HP:0010938	Abnormal external nose morphology	157570	ESCO2	ORPHA:3103
HP:0010938	Abnormal external nose morphology	157570	ESCO2	OMIM:268300
HP:0010938	Abnormal external nose morphology	10907	TXNL4A	OMIM:608572
HP:0010938	Abnormal external nose morphology	5295	PIK3R1	OMIM:269880
HP:0010938	Abnormal external nose morphology	54888	NSUN2	OMIM:611091
HP:0010938	Abnormal external nose morphology	5116	PCNT	ORPHA:2637
HP:0010938	Abnormal external nose morphology	6909	TBX2	OMIM:618223
HP:0010938	Abnormal external nose morphology	55120	FANCL	OMIM:614083
HP:0010938	Abnormal external nose morphology	4593	MUSK	OMIM:208150
HP:0010938	Abnormal external nose morphology	23126	POGZ	OMIM:616364
HP:0010938	Abnormal external nose morphology	2316	FLNA	ORPHA:88630
HP:0010938	Abnormal external nose morphology	2316	FLNA	OMIM:300244
HP:0010938	Abnormal external nose morphology	5557	PRIM1	OMIM:620005
HP:0010938	Abnormal external nose morphology	8626	TP63	OMIM:604292
HP:0010938	Abnormal external nose morphology	2132	EXT2	ORPHA:52022
HP:0010938	Abnormal external nose morphology	51317	PHF21A	ORPHA:52022
HP:0010938	Abnormal external nose morphology	78989	COLEC11	OMIM:265050
HP:0010938	Abnormal external nose morphology	1968	EIF2S3	OMIM:300148
HP:0010938	Abnormal external nose morphology	22858	CILK1	OMIM:612651
HP:0010938	Abnormal external nose morphology	55770	EXOC2	OMIM:619306
HP:0010938	Abnormal external nose morphology	57724	EPG5	ORPHA:1493
HP:0010938	Abnormal external nose morphology	3981	LIG4	ORPHA:99812
HP:0010938	Abnormal external nose morphology	538	ATP7A	OMIM:304150
HP:0010938	Abnormal external nose morphology	256297	PTF1A	OMIM:609069
HP:0010938	Abnormal external nose morphology	91754	NEK9	OMIM:617022
HP:0010938	Abnormal external nose morphology	221496	LEMD2	OMIM:619322
HP:0010938	Abnormal external nose morphology	8882	ZPR1	OMIM:619321
HP:0010938	Abnormal external nose morphology	6905	TBCE	ORPHA:2323
HP:0010938	Abnormal external nose morphology	6905	TBCE	OMIM:241410
HP:0010938	Abnormal external nose morphology	7486	WRN	OMIM:277700
HP:0010938	Abnormal external nose morphology	7486	WRN	ORPHA:902
HP:0010938	Abnormal external nose morphology	4038	LRP4	ORPHA:3258
HP:0010938	Abnormal external nose morphology	1763	DNA2	OMIM:615807
HP:0010938	Abnormal external nose morphology	51132	RLIM	OMIM:300978
HP:0010938	Abnormal external nose morphology	23511	NUP188	OMIM:618804
HP:0010938	Abnormal external nose morphology	545	ATR	OMIM:614564
HP:0010938	Abnormal external nose morphology	545	ATR	OMIM:210600
HP:0010938	Abnormal external nose morphology	545	ATR	ORPHA:808
HP:0010938	Abnormal external nose morphology	1277	COL1A1	OMIM:166210
HP:0010938	Abnormal external nose morphology	157680	VPS13B	OMIM:216550
HP:0010938	Abnormal external nose morphology	444	ASPH	OMIM:601552
HP:0010938	Abnormal external nose morphology	5424	POLD1	OMIM:615381
HP:0010938	Abnormal external nose morphology	29980	DONSON	OMIM:617604
HP:0010938	Abnormal external nose morphology	29980	DONSON	OMIM:251230
HP:0010938	Abnormal external nose morphology	53834	FGFRL1	OMIM:194190
HP:0010938	Abnormal external nose morphology	1487	CTBP1	OMIM:194190
HP:0010938	Abnormal external nose morphology	3954	LETM1	OMIM:194190
HP:0010938	Abnormal external nose morphology	7468	NSD2	OMIM:194190
HP:0010938	Abnormal external nose morphology	3590	IL11RA	OMIM:614188
HP:0010938	Abnormal external nose morphology	29957	SLC25A24	OMIM:612289
HP:0010938	Abnormal external nose morphology	80152	CENPT	OMIM:618702
HP:0010938	Abnormal external nose morphology	5159	PDGFRB	OMIM:601812
HP:0010938	Abnormal external nose morphology	28952	CCDC22	OMIM:300963
HP:0010938	Abnormal external nose morphology	10293	TRAIP	OMIM:616777
HP:0010938	Abnormal external nose morphology	10293	TRAIP	ORPHA:808
HP:0010938	Abnormal external nose morphology	22995	CEP152	OMIM:613823
HP:0010938	Abnormal external nose morphology	22995	CEP152	ORPHA:808
HP:0010938	Abnormal external nose morphology	113246	C12orf57	OMIM:218340
HP:0010938	Abnormal external nose morphology	81031	SLC2A10	OMIM:208050
HP:0010938	Abnormal external nose morphology	51360	MBTPS2	ORPHA:85284
HP:0010938	Abnormal external nose morphology	8815	BANF1	OMIM:614008
HP:0010938	Abnormal external nose morphology	1062	CENPE	ORPHA:808
HP:0010938	Abnormal external nose morphology	5932	RBBP8	ORPHA:808
HP:0010938	Abnormal external nose morphology	79902	NUP85	ORPHA:808
HP:0010938	Abnormal external nose morphology	84126	ATRIP	ORPHA:808
HP:0010938	Abnormal external nose morphology	4683	NBN	ORPHA:647
HP:0010938	Abnormal external nose morphology	1513	CTSK	ORPHA:763
HP:0010938	Abnormal external nose morphology	860	RUNX2	OMIM:156510
HP:0010938	Abnormal external nose morphology	4212	MEIS2	ORPHA:261190
HP:0010938	Abnormal external nose morphology	10535	RNASEH2A	OMIM:610333
HP:0010938	Abnormal external nose morphology	10535	RNASEH2A	ORPHA:51
HP:0010938	Abnormal external nose morphology	84153	RNASEH2C	ORPHA:51
HP:0010938	Abnormal external nose morphology	25939	SAMHD1	ORPHA:51
HP:0010938	Abnormal external nose morphology	79621	RNASEH2B	ORPHA:51
HP:0010938	Abnormal external nose morphology	103	ADAR	ORPHA:51
HP:0010938	Abnormal external nose morphology	11277	TREX1	ORPHA:51
HP:0010938	Abnormal external nose morphology	100147744	RNU7-1	ORPHA:51
HP:0010938	Abnormal external nose morphology	134353	LSM11	ORPHA:51
HP:0010938	Abnormal external nose morphology	64135	IFIH1	ORPHA:51
HP:0010938	Abnormal external nose morphology	26057	ANKRD17	OMIM:619504
HP:0010938	Abnormal external nose morphology	64093	SMOC1	OMIM:206920
HP:0010938	Abnormal external nose morphology	79184	BRCC3	ORPHA:280679
HP:0010938	Abnormal external nose morphology	3480	IGF1R	ORPHA:73273
HP:0010938	Abnormal external nose morphology	57459	GATAD2B	OMIM:615074
HP:0010938	Abnormal external nose morphology	57459	GATAD2B	ORPHA:363686
HP:0010938	Abnormal external nose morphology	324	APC	ORPHA:261584
HP:0010938	Abnormal external nose morphology	84282	RNF135	ORPHA:137634
HP:0010938	Abnormal external nose morphology	11133	KPTN	OMIM:615637
HP:0010938	Abnormal external nose morphology	6418	SET	OMIM:618106
HP:0010938	Abnormal external nose morphology	7021	TFAP2B	OMIM:169100
HP:0010938	Abnormal external nose morphology	3190	HNRNPK	ORPHA:453504
HP:0010938	Abnormal external nose morphology	3190	HNRNPK	ORPHA:352665
HP:0010938	Abnormal external nose morphology	5575	PRKAR1B	OMIM:619680
HP:0010938	Abnormal external nose morphology	5515	PPP2CA	OMIM:618354
HP:0010938	Abnormal external nose morphology	57511	COG6	ORPHA:363523
HP:0010938	Abnormal external nose morphology	55784	MCTP2	ORPHA:1596
HP:0010938	Abnormal external nose morphology	112939	NACC1	ORPHA:500545
HP:0010938	Abnormal external nose morphology	112939	NACC1	OMIM:617393
HP:0010938	Abnormal external nose morphology	5915	RARB	OMIM:615524
HP:0010938	Abnormal external nose morphology	2720	GLB1	ORPHA:79255
HP:0010938	Abnormal external nose morphology	4052	LTBP1	OMIM:619451
HP:0010938	Abnormal external nose morphology	114034	TOE1	OMIM:614969
HP:0010938	Abnormal external nose morphology	23325	WASHC4	OMIM:615817
HP:0010938	Abnormal external nose morphology	7020	TFAP2A	OMIM:113620
HP:0010938	Abnormal external nose morphology	7020	TFAP2A	ORPHA:1297
HP:0010938	Abnormal external nose morphology	51305	KCNK9	ORPHA:166108
HP:0010938	Abnormal external nose morphology	9653	HS2ST1	OMIM:619194
HP:0010938	Abnormal external nose morphology	8812	CCNK	OMIM:618147
HP:0010938	Abnormal external nose morphology	8558	CDK10	OMIM:617694
HP:0010938	Abnormal external nose morphology	8364	H4C3	OMIM:619758
HP:0010938	Abnormal external nose morphology	11198	SUPT16H	OMIM:619480
HP:0010938	Abnormal external nose morphology	4036	LRP2	OMIM:222448
HP:0010938	Abnormal external nose morphology	79718	TBL1XR1	OMIM:602342
HP:0010938	Abnormal external nose morphology	54880	BCOR	OMIM:300166
HP:0010938	Abnormal external nose morphology	27086	FOXP1	ORPHA:391372
HP:0010938	Abnormal external nose morphology	27086	FOXP1	OMIM:613670
HP:0010938	Abnormal external nose morphology	81887	LAS1L	ORPHA:3459
HP:0010938	Abnormal external nose morphology	55252	ASXL2	OMIM:617190
HP:0010938	Abnormal external nose morphology	7518	XRCC4	OMIM:616541
HP:0010938	Abnormal external nose morphology	178	AGL	OMIM:232400
HP:0010938	Abnormal external nose morphology	2186	BPTF	OMIM:617755
HP:0010938	Abnormal external nose morphology	23133	PHF8	ORPHA:85287
HP:0010938	Abnormal external nose morphology	23133	PHF8	OMIM:300263
HP:0010938	Abnormal external nose morphology	23219	FBXO28	OMIM:619777
HP:0010938	Abnormal external nose morphology	170692	ADAMTS18	OMIM:615458
HP:0010938	Abnormal external nose morphology	26123	TCTN3	ORPHA:2754
HP:0010938	Abnormal external nose morphology	5147	PDE6D	ORPHA:2754
HP:0010938	Abnormal external nose morphology	374654	KIF7	ORPHA:2754
HP:0010938	Abnormal external nose morphology	11011	TLK2	OMIM:618050
HP:0010938	Abnormal external nose morphology	10736	SIX2	ORPHA:488437
HP:0010938	Abnormal external nose morphology	55835	CENPJ	OMIM:608393
HP:0010938	Abnormal external nose morphology	9758	FRMPD4	OMIM:300983
HP:0010938	Abnormal external nose morphology	4621	MYH3	ORPHA:2053
HP:0010938	Abnormal external nose morphology	5077	PAX3	ORPHA:1529
HP:0010938	Abnormal external nose morphology	9342	SNAP29	ORPHA:66631
HP:0010938	Abnormal external nose morphology	3313	HSPA9	OMIM:616854
HP:0010938	Abnormal external nose morphology	10157	AASS	ORPHA:2203
HP:0010938	Abnormal external nose morphology	6662	SOX9	OMIM:114290
HP:0010938	Abnormal external nose morphology	4125	MAN2B1	OMIM:248500
HP:0010938	Abnormal external nose morphology	80324	PUS1	OMIM:600462
HP:0010938	Abnormal external nose morphology	84314	TMEM107	ORPHA:564
HP:0010938	Abnormal external nose morphology	57096	RPGRIP1	ORPHA:564
HP:0010938	Abnormal external nose morphology	9184	BUB3	ORPHA:1052
HP:0010938	Abnormal external nose morphology	699	BUB1	ORPHA:1052
HP:0010938	Abnormal external nose morphology	9319	TRIP13	ORPHA:1052
HP:0010938	Abnormal external nose morphology	2688	GH1	OMIM:262400
HP:0010938	Abnormal external nose morphology	10013	HDAC6	OMIM:300863
HP:0010938	Abnormal external nose morphology	10013	HDAC6	ORPHA:163966
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93926
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93924
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93925
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:220386
HP:0010938	Abnormal external nose morphology	26227	PHGDH	OMIM:256520
HP:0010938	Abnormal external nose morphology	5979	RET	ORPHA:1848
HP:0010938	Abnormal external nose morphology	8516	ITGA8	ORPHA:1848
HP:0010938	Abnormal external nose morphology	26281	FGF20	ORPHA:1848
HP:0010938	Abnormal external nose morphology	2674	GFRA1	ORPHA:1848
HP:0010938	Abnormal external nose morphology	7484	WNT9B	ORPHA:1848
HP:0010938	Abnormal external nose morphology	80000	GREB1L	ORPHA:1848
HP:0010938	Abnormal external nose morphology	5590	PRKCZ	ORPHA:1606
HP:0010938	Abnormal external nose morphology	2563	GABRD	ORPHA:1606
HP:0010938	Abnormal external nose morphology	8510	MMP23B	ORPHA:1606
HP:0010938	Abnormal external nose morphology	7798	LUZP1	ORPHA:1606
HP:0010938	Abnormal external nose morphology	10630	PDPN	ORPHA:1606
HP:0010938	Abnormal external nose morphology	10277	UBE4B	ORPHA:1606
HP:0010938	Abnormal external nose morphology	8514	KCNAB2	ORPHA:1606
HP:0010938	Abnormal external nose morphology	63976	PRDM16	ORPHA:1606
HP:0010938	Abnormal external nose morphology	54897	CASZ1	ORPHA:1606
HP:0010938	Abnormal external nose morphology	5626	PROP1	ORPHA:95494
HP:0010938	Abnormal external nose morphology	5626	PROP1	ORPHA:90695
HP:0010938	Abnormal external nose morphology	89884	LHX4	ORPHA:95494
HP:0010938	Abnormal external nose morphology	3170	FOXA2	ORPHA:95494
HP:0010938	Abnormal external nose morphology	8820	HESX1	ORPHA:95494
HP:0010938	Abnormal external nose morphology	5015	OTX2	ORPHA:95494
HP:0010938	Abnormal external nose morphology	60401	EDA2R	ORPHA:181
HP:0010938	Abnormal external nose morphology	1896	EDA	ORPHA:181
HP:0010938	Abnormal external nose morphology	26154	ABCA12	ORPHA:457
HP:0010938	Abnormal external nose morphology	199221	DZIP1L	ORPHA:731
HP:0010938	Abnormal external nose morphology	5314	PKHD1	ORPHA:731
HP:0010938	Abnormal external nose morphology	3930	LBR	OMIM:215140
HP:0010938	Abnormal external nose morphology	6223	RPS19	OMIM:105650
HP:0010938	Abnormal external nose morphology	5781	PTPN11	OMIM:151100
HP:0010938	Abnormal external nose morphology	29968	PSAT1	OMIM:616038
HP:0010938	Abnormal external nose morphology	5081	PAX7	OMIM:618578
HP:0010938	Abnormal external nose morphology	1146	CHRNG	OMIM:253290
HP:0010938	Abnormal external nose morphology	1144	CHRND	OMIM:253290
HP:0010938	Abnormal external nose morphology	1134	CHRNA1	OMIM:253290
HP:0010938	Abnormal external nose morphology	2690	GHR	ORPHA:633
HP:0010938	Abnormal external nose morphology	6658	SOX3	ORPHA:90695
HP:0010938	Abnormal external nose morphology	7189	TRAF6	ORPHA:1810
HP:0010938	Abnormal external nose morphology	128178	EDARADD	ORPHA:1810
HP:0010938	Abnormal external nose morphology	10913	EDAR	ORPHA:1810
HP:0010938	Abnormal external nose morphology	168667	BMPER	OMIM:608022
HP:0010938	Abnormal external nose morphology	2137	EXTL3	ORPHA:508533
HP:0010938	Abnormal external nose morphology	1718	DHCR24	OMIM:602398
HP:0010938	Abnormal external nose morphology	8367	H4C5	OMIM:619950
HP:0010938	Abnormal external nose morphology	340533	NEXMIF	OMIM:300912
HP:0010938	Abnormal external nose morphology	340533	NEXMIF	ORPHA:1942
HP:0010938	Abnormal external nose morphology	6659	SOX4	OMIM:618506
HP:0010938	Abnormal external nose morphology	6659	SOX4	ORPHA:1465
HP:0010938	Abnormal external nose morphology	9820	CUL7	ORPHA:2616
HP:0010938	Abnormal external nose morphology	9820	CUL7	OMIM:273750
HP:0010938	Abnormal external nose morphology	23363	OBSL1	ORPHA:2616
HP:0010938	Abnormal external nose morphology	23363	OBSL1	OMIM:612921
HP:0010938	Abnormal external nose morphology	83987	CCDC8	ORPHA:2616
HP:0010938	Abnormal external nose morphology	83987	CCDC8	OMIM:614205
HP:0010938	Abnormal external nose morphology	81857	MED25	OMIM:616449
HP:0010938	Abnormal external nose morphology	81857	MED25	ORPHA:464738
HP:0010938	Abnormal external nose morphology	5457	POU4F1	ORPHA:314647
HP:0010938	Abnormal external nose morphology	23261	CAMTA1	ORPHA:314647
HP:0010938	Abnormal external nose morphology	23261	CAMTA1	OMIM:614756
HP:0010938	Abnormal external nose morphology	55209	SETD5	ORPHA:404440
HP:0010938	Abnormal external nose morphology	55209	SETD5	OMIM:615761
HP:0010938	Abnormal external nose morphology	116931	MED12L	OMIM:618872
HP:0010938	Abnormal external nose morphology	9578	CDC42BPB	OMIM:619841
HP:0010938	Abnormal external nose morphology	3020	H3-3A	OMIM:619720
HP:0010938	Abnormal external nose morphology	10300	KATNB1	OMIM:616212
HP:0010938	Abnormal external nose morphology	80816	ASXL3	OMIM:615485
HP:0010938	Abnormal external nose morphology	6536	SLC6A9	OMIM:617301
HP:0010938	Abnormal external nose morphology	51741	WWOX	OMIM:616211
HP:0010938	Abnormal external nose morphology	1855	DVL1	OMIM:616331
HP:0010938	Abnormal external nose morphology	1855	DVL1	OMIM:180700
HP:0010938	Abnormal external nose morphology	1855	DVL1	ORPHA:3107
HP:0010938	Abnormal external nose morphology	55790	CSGALNACT1	OMIM:618870
HP:0010938	Abnormal external nose morphology	55790	CSGALNACT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	5830	PEX5	OMIM:202370
HP:0010938	Abnormal external nose morphology	5830	PEX5	ORPHA:44
HP:0010938	Abnormal external nose morphology	23322	RPGRIP1L	ORPHA:220497
HP:0010938	Abnormal external nose morphology	23322	RPGRIP1L	ORPHA:1454
HP:0010938	Abnormal external nose morphology	4867	NPHP1	ORPHA:220497
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:220497
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:475
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:2318
HP:0010938	Abnormal external nose morphology	79639	TMEM53	OMIM:619727
HP:0010938	Abnormal external nose morphology	72	ACTG2	ORPHA:2604
HP:0010938	Abnormal external nose morphology	54806	AHI1	ORPHA:220493
HP:0010938	Abnormal external nose morphology	54806	AHI1	ORPHA:475
HP:0010938	Abnormal external nose morphology	54806	AHI1	ORPHA:791
HP:0010938	Abnormal external nose morphology	54806	AHI1	OMIM:608629
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:220493
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:475
HP:0010938	Abnormal external nose morphology	56623	INPP5E	OMIM:213300
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:1454
HP:0010938	Abnormal external nose morphology	153241	CEP120	ORPHA:220493
HP:0010938	Abnormal external nose morphology	153241	CEP120	ORPHA:475
HP:0010938	Abnormal external nose morphology	54903	MKS1	ORPHA:220493
HP:0010938	Abnormal external nose morphology	54903	MKS1	ORPHA:475
HP:0010938	Abnormal external nose morphology	95681	CEP41	ORPHA:220493
HP:0010938	Abnormal external nose morphology	95681	CEP41	ORPHA:475
HP:0010938	Abnormal external nose morphology	5728	PTEN	ORPHA:2969
HP:0010938	Abnormal external nose morphology	5728	PTEN	ORPHA:109
HP:0010938	Abnormal external nose morphology	5728	PTEN	ORPHA:744
HP:0010938	Abnormal external nose morphology	129563	DIS3L2	ORPHA:2849
HP:0010938	Abnormal external nose morphology	3764	KCNJ8	ORPHA:1517
HP:0010938	Abnormal external nose morphology	10060	ABCC9	ORPHA:1517
HP:0010938	Abnormal external nose morphology	10060	ABCC9	OMIM:239850
HP:0010938	Abnormal external nose morphology	79158	GNPTAB	OMIM:252500
HP:0010938	Abnormal external nose morphology	57539	WDR35	ORPHA:1515
HP:0010938	Abnormal external nose morphology	112752	IFT43	ORPHA:1515
HP:0010938	Abnormal external nose morphology	51098	IFT52	ORPHA:1515
HP:0010938	Abnormal external nose morphology	55764	IFT122	ORPHA:1515
HP:0010938	Abnormal external nose morphology	55764	IFT122	OMIM:218330
HP:0010938	Abnormal external nose morphology	57728	WDR19	ORPHA:1515
HP:0010938	Abnormal external nose morphology	57728	WDR19	OMIM:614378
HP:0010938	Abnormal external nose morphology	5189	PEX1	OMIM:214100
HP:0010938	Abnormal external nose morphology	5189	PEX1	ORPHA:44
HP:0010938	Abnormal external nose morphology	2260	FGFR1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2260	FGFR1	OMIM:166250
HP:0010938	Abnormal external nose morphology	2260	FGFR1	ORPHA:2645
HP:0010938	Abnormal external nose morphology	28514	DLL1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2253	FGF8	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6496	SIX3	ORPHA:280200
HP:0010938	Abnormal external nose morphology	7050	TGIF1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	4838	NODAL	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6469	SHH	ORPHA:280200
HP:0010938	Abnormal external nose morphology	51684	SUFU	ORPHA:280200
HP:0010938	Abnormal external nose morphology	51684	SUFU	ORPHA:475
HP:0010938	Abnormal external nose morphology	7546	ZIC2	ORPHA:280200
HP:0010938	Abnormal external nose morphology	7546	ZIC2	OMIM:609637
HP:0010938	Abnormal external nose morphology	2619	GAS1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	84976	DISP1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2736	GLI2	ORPHA:280200
HP:0010938	Abnormal external nose morphology	8928	FOXH1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	50937	CDON	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6023	RMRP	ORPHA:175
HP:0010938	Abnormal external nose morphology	57589	RIC1	OMIM:618761
HP:0010938	Abnormal external nose morphology	79868	ALG13	ORPHA:324422
HP:0010938	Abnormal external nose morphology	79868	ALG13	OMIM:300884
HP:0010938	Abnormal external nose morphology	317662	FAM149B1	OMIM:618763
HP:0010938	Abnormal external nose morphology	55870	ASH1L	OMIM:617796
HP:0010938	Abnormal external nose morphology	10606	PAICS	OMIM:619859
HP:0010938	Abnormal external nose morphology	11232	POLG2	OMIM:618528
HP:0010938	Abnormal external nose morphology	4853	NOTCH2	OMIM:102500
HP:0010938	Abnormal external nose morphology	4853	NOTCH2	ORPHA:955
HP:0010938	Abnormal external nose morphology	64359	NXN	OMIM:618529
HP:0010938	Abnormal external nose morphology	64359	NXN	ORPHA:1507
HP:0010938	Abnormal external nose morphology	9326	ZNHIT3	ORPHA:2836
HP:0010938	Abnormal external nose morphology	547	KIF1A	ORPHA:2836
HP:0010938	Abnormal external nose morphology	2770	GNAI1	OMIM:619854
HP:0010938	Abnormal external nose morphology	4920	ROR2	ORPHA:1507
HP:0010938	Abnormal external nose morphology	4920	ROR2	OMIM:268310
HP:0010938	Abnormal external nose morphology	2697	GJA1	ORPHA:2710
HP:0010938	Abnormal external nose morphology	2697	GJA1	OMIM:164200
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:184840
HP:0010938	Abnormal external nose morphology	1302	COL11A2	ORPHA:2021
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:614524
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:215150
HP:0010938	Abnormal external nose morphology	1302	COL11A2	ORPHA:1427
HP:0010938	Abnormal external nose morphology	6872	TAF1	ORPHA:480907
HP:0010938	Abnormal external nose morphology	6872	TAF1	OMIM:300966
HP:0010938	Abnormal external nose morphology	171023	ASXL1	ORPHA:97297
HP:0010938	Abnormal external nose morphology	171023	ASXL1	OMIM:605039
HP:0010938	Abnormal external nose morphology	10484	SEC23A	OMIM:607812
HP:0010938	Abnormal external nose morphology	10087	CERT1	OMIM:616351
HP:0010938	Abnormal external nose morphology	54968	TMEM70	OMIM:614052
HP:0010938	Abnormal external nose morphology	4330	MN1	OMIM:618774
HP:0010938	Abnormal external nose morphology	5442	POLRMT	OMIM:619743
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:228520
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:604841
HP:0010938	Abnormal external nose morphology	1301	COL11A1	ORPHA:560
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:154780
HP:0010938	Abnormal external nose morphology	1301	COL11A1	ORPHA:2021
HP:0010938	Abnormal external nose morphology	57231	SNX14	OMIM:616354
HP:0010938	Abnormal external nose morphology	23327	NEDD4L	OMIM:617201
HP:0010938	Abnormal external nose morphology	8036	SHOC2	ORPHA:2701
HP:0010938	Abnormal external nose morphology	5500	PPP1CB	ORPHA:2701
HP:0010938	Abnormal external nose morphology	5813	PURA	ORPHA:438216
HP:0010938	Abnormal external nose morphology	5813	PURA	OMIM:616158
HP:0010938	Abnormal external nose morphology	5813	PURA	ORPHA:314655
HP:0010938	Abnormal external nose morphology	26040	SETBP1	OMIM:269150
HP:0010938	Abnormal external nose morphology	8241	RBM10	OMIM:311900
HP:0010938	Abnormal external nose morphology	8241	RBM10	ORPHA:2886
HP:0010938	Abnormal external nose morphology	57167	SALL4	ORPHA:233
HP:0010938	Abnormal external nose morphology	9935	MAFB	ORPHA:233
HP:0010938	Abnormal external nose morphology	1123	CHN1	ORPHA:233
HP:0010938	Abnormal external nose morphology	79600	TCTN1	ORPHA:475
HP:0010938	Abnormal external nose morphology	79848	CSPP1	ORPHA:475
HP:0010938	Abnormal external nose morphology	65250	CPLANE1	ORPHA:475
HP:0010938	Abnormal external nose morphology	91147	TMEM67	ORPHA:475
HP:0010938	Abnormal external nose morphology	91147	TMEM67	OMIM:216360
HP:0010938	Abnormal external nose morphology	91147	TMEM67	ORPHA:1454
HP:0010938	Abnormal external nose morphology	200894	ARL13B	ORPHA:475
HP:0010938	Abnormal external nose morphology	9731	CEP104	ORPHA:475
HP:0010938	Abnormal external nose morphology	219844	HYLS1	ORPHA:475
HP:0010938	Abnormal external nose morphology	23247	KATNIP	ORPHA:475
HP:0010938	Abnormal external nose morphology	23247	KATNIP	OMIM:616784
HP:0010938	Abnormal external nose morphology	219854	TMEM218	ORPHA:475
HP:0010938	Abnormal external nose morphology	9786	KIAA0586	ORPHA:475
HP:0010938	Abnormal external nose morphology	79867	TCTN2	ORPHA:475
HP:0010938	Abnormal external nose morphology	80776	B9D2	ORPHA:475
HP:0010938	Abnormal external nose morphology	10464	PIBF1	ORPHA:475
HP:0010938	Abnormal external nose morphology	80210	ARMC9	ORPHA:475
HP:0010938	Abnormal external nose morphology	23116	TOGARAM1	ORPHA:475
HP:0010938	Abnormal external nose morphology	23116	TOGARAM1	OMIM:619185
HP:0010938	Abnormal external nose morphology	25776	CBY1	ORPHA:475
HP:0010938	Abnormal external nose morphology	27077	B9D1	ORPHA:475
HP:0010938	Abnormal external nose morphology	403	ARL3	ORPHA:475
HP:0010938	Abnormal external nose morphology	403	ARL3	ORPHA:791
HP:0010938	Abnormal external nose morphology	403	ARL3	OMIM:618161
HP:0010938	Abnormal external nose morphology	1789	DNMT3B	OMIM:242860
HP:0010938	Abnormal external nose morphology	5518	PPP2R1A	OMIM:616362
HP:0010938	Abnormal external nose morphology	5518	PPP2R1A	ORPHA:457284
HP:0010938	Abnormal external nose morphology	253738	EBF3	OMIM:617330
HP:0010938	Abnormal external nose morphology	55768	NGLY1	OMIM:615273
HP:0010938	Abnormal external nose morphology	8493	PPM1D	OMIM:617450
HP:0010938	Abnormal external nose morphology	85301	COL27A1	OMIM:615155
HP:0010938	Abnormal external nose morphology	51604	PIGT	OMIM:615398
HP:0010938	Abnormal external nose morphology	5792	PTPRF	OMIM:616001
HP:0010938	Abnormal external nose morphology	3572	IL6ST	OMIM:619750
HP:0010938	Abnormal external nose morphology	3845	KRAS	OMIM:615278
HP:0010938	Abnormal external nose morphology	3845	KRAS	ORPHA:3339
HP:0010938	Abnormal external nose morphology	3845	KRAS	ORPHA:1340
HP:0010938	Abnormal external nose morphology	3845	KRAS	OMIM:609942
HP:0010938	Abnormal external nose morphology	27125	AFF4	OMIM:616368
HP:0010938	Abnormal external nose morphology	27125	AFF4	ORPHA:444077
HP:0010938	Abnormal external nose morphology	9841	ZBTB24	OMIM:614069
HP:0010938	Abnormal external nose morphology	51692	CPSF3	OMIM:619876
HP:0010938	Abnormal external nose morphology	3098	HK1	OMIM:618547
HP:0010938	Abnormal external nose morphology	79770	TXNDC15	OMIM:619879
HP:0010938	Abnormal external nose morphology	9091	PIGQ	OMIM:618548
HP:0010938	Abnormal external nose morphology	9091	PIGQ	ORPHA:1934
HP:0010938	Abnormal external nose morphology	285362	SUMF1	OMIM:272200
HP:0010938	Abnormal external nose morphology	285362	SUMF1	ORPHA:585
HP:0010938	Abnormal external nose morphology	26137	ZBTB20	OMIM:259050
HP:0010938	Abnormal external nose morphology	8314	BAP1	OMIM:619762
HP:0010938	Abnormal external nose morphology	7750	ZMYM2	OMIM:619522
HP:0010938	Abnormal external nose morphology	8733	GPAA1	ORPHA:529665
HP:0010938	Abnormal external nose morphology	8733	GPAA1	OMIM:617810
HP:0010938	Abnormal external nose morphology	253959	RALGAPA1	OMIM:618797
HP:0010938	Abnormal external nose morphology	53335	BCL11A	OMIM:617101
HP:0010938	Abnormal external nose morphology	4849	CNOT3	OMIM:618672
HP:0010938	Abnormal external nose morphology	4285	MIPEP	OMIM:617228
HP:0010938	Abnormal external nose morphology	9928	KIF14	OMIM:616258
HP:0010938	Abnormal external nose morphology	2263	FGFR2	OMIM:123790
HP:0010938	Abnormal external nose morphology	2263	FGFR2	ORPHA:1555
HP:0010938	Abnormal external nose morphology	9772	TMEM94	OMIM:618316
HP:0010938	Abnormal external nose morphology	25973	PARS2	OMIM:618437
HP:0010938	Abnormal external nose morphology	79971	WLS	OMIM:619648
HP:0010938	Abnormal external nose morphology	56975	FAM20C	ORPHA:1832
HP:0010938	Abnormal external nose morphology	2271	FH	OMIM:606812
HP:0010938	Abnormal external nose morphology	4208	MEF2C	ORPHA:228384
HP:0010938	Abnormal external nose morphology	4208	MEF2C	OMIM:613443
HP:0010938	Abnormal external nose morphology	5373	PMM2	ORPHA:79318
HP:0010938	Abnormal external nose morphology	23556	PIGN	OMIM:614080
HP:0010938	Abnormal external nose morphology	23556	PIGN	ORPHA:2059
HP:0010938	Abnormal external nose morphology	23556	PIGN	ORPHA:280633
HP:0010938	Abnormal external nose morphology	2239	GPC4	ORPHA:373
HP:0010938	Abnormal external nose morphology	2239	GPC4	OMIM:312870
HP:0010938	Abnormal external nose morphology	2719	GPC3	ORPHA:373
HP:0010938	Abnormal external nose morphology	2719	GPC3	OMIM:312870
HP:0010938	Abnormal external nose morphology	23007	PLCH1	OMIM:619895
HP:0010938	Abnormal external nose morphology	23162	MAPK8IP3	OMIM:618443
HP:0010938	Abnormal external nose morphology	54941	RNF125	OMIM:616260
HP:0010938	Abnormal external nose morphology	79989	IFT56	OMIM:619534
HP:0010938	Abnormal external nose morphology	259232	NALCN	OMIM:616266
HP:0010938	Abnormal external nose morphology	259232	NALCN	ORPHA:371364
HP:0010938	Abnormal external nose morphology	84168	ANTXR1	OMIM:230740
HP:0010938	Abnormal external nose morphology	84168	ANTXR1	ORPHA:2067
HP:0010938	Abnormal external nose morphology	25836	NIPBL	OMIM:122470
HP:0010938	Abnormal external nose morphology	25836	NIPBL	ORPHA:199
HP:0010938	Abnormal external nose morphology	2317	FLNB	OMIM:272460
HP:0010938	Abnormal external nose morphology	6513	SLC2A1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	8831	SYNGAP1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	1173	AP2M1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	6323	SCN1A	ORPHA:1942
HP:0010938	Abnormal external nose morphology	1106	CHD2	ORPHA:1942
HP:0010938	Abnormal external nose morphology	6529	SLC6A1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	9896	FIG4	OMIM:216340
HP:0010938	Abnormal external nose morphology	9896	FIG4	ORPHA:3472
HP:0010938	Abnormal external nose morphology	6595	SMARCA2	OMIM:601358
HP:0010938	Abnormal external nose morphology	6595	SMARCA2	ORPHA:3051
HP:0010938	Abnormal external nose morphology	6595	SMARCA2	OMIM:619293
HP:0010938	Abnormal external nose morphology	1387	CREBBP	OMIM:618332
HP:0010938	Abnormal external nose morphology	8295	TRRAP	OMIM:618454
HP:0010938	Abnormal external nose morphology	5881	RAC3	OMIM:618577
HP:0010938	Abnormal external nose morphology	60529	ALX4	ORPHA:228390
HP:0010938	Abnormal external nose morphology	60529	ALX4	OMIM:613451
HP:0010938	Abnormal external nose morphology	9427	ECEL1	OMIM:615065
HP:0010938	Abnormal external nose morphology	5587	PRKD1	OMIM:617364
HP:0010938	Abnormal external nose morphology	9851	KIAA0753	OMIM:617127
HP:0010938	Abnormal external nose morphology	51013	EXOSC1	OMIM:619304
HP:0010938	Abnormal external nose morphology	1642	DDB1	OMIM:619426
HP:0010938	Abnormal external nose morphology	6792	CDKL5	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6792	CDKL5	OMIM:300672
HP:0010938	Abnormal external nose morphology	3736	KCNA1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2775	GNAO1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	81603	TRIM8	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2902	GRIN1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	79751	SLC25A22	ORPHA:1934
HP:0010938	Abnormal external nose morphology	150094	SIK1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	8573	CASK	ORPHA:1934
HP:0010938	Abnormal external nose morphology	23312	DMXL2	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2917	GRM7	ORPHA:1934
HP:0010938	Abnormal external nose morphology	170302	ARX	ORPHA:1934
HP:0010938	Abnormal external nose morphology	11284	PNKP	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6326	SCN2A	ORPHA:1934
HP:0010938	Abnormal external nose morphology	51227	PIGP	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6324	SCN1B	ORPHA:1934
HP:0010938	Abnormal external nose morphology	4761	NEUROD2	ORPHA:1934
HP:0010938	Abnormal external nose morphology	389827	MYMK	OMIM:254940
HP:0010938	Abnormal external nose morphology	389827	MYMK	ORPHA:1358
HP:0010938	Abnormal external nose morphology	2737	GLI3	ORPHA:672
HP:0010938	Abnormal external nose morphology	2737	GLI3	OMIM:146510
HP:0010938	Abnormal external nose morphology	9361	LONP1	OMIM:600373
HP:0010938	Abnormal external nose morphology	9361	LONP1	ORPHA:1458
HP:0010938	Abnormal external nose morphology	92840	REEP6	ORPHA:791
HP:0010938	Abnormal external nose morphology	6094	ROM1	ORPHA:791
HP:0010938	Abnormal external nose morphology	6017	RLBP1	ORPHA:791
HP:0010938	Abnormal external nose morphology	7401	CLRN1	ORPHA:791
HP:0010938	Abnormal external nose morphology	24	ABCA4	ORPHA:791
HP:0010938	Abnormal external nose morphology	130557	ZNF513	ORPHA:791
HP:0010938	Abnormal external nose morphology	582	BBS1	ORPHA:791
HP:0010938	Abnormal external nose morphology	92211	CDHR1	ORPHA:791
HP:0010938	Abnormal external nose morphology	23568	ARL2BP	ORPHA:791
HP:0010938	Abnormal external nose morphology	6121	RPE65	ORPHA:791
HP:0010938	Abnormal external nose morphology	6101	RP1	ORPHA:791
HP:0010938	Abnormal external nose morphology	3419	IDH3A	ORPHA:791
HP:0010938	Abnormal external nose morphology	4751	NEK2	ORPHA:791
HP:0010938	Abnormal external nose morphology	346007	EYS	ORPHA:791
HP:0010938	Abnormal external nose morphology	8100	IFT88	ORPHA:791
HP:0010938	Abnormal external nose morphology	23020	SNRNP200	ORPHA:791
HP:0010938	Abnormal external nose morphology	762	CA4	ORPHA:791
HP:0010938	Abnormal external nose morphology	138050	HGSNAT	ORPHA:791
HP:0010938	Abnormal external nose morphology	196	AHR	ORPHA:791
HP:0010938	Abnormal external nose morphology	3614	IMPDH1	ORPHA:791
HP:0010938	Abnormal external nose morphology	123016	TTC8	ORPHA:791
HP:0010938	Abnormal external nose morphology	6103	RPGR	ORPHA:791
HP:0010938	Abnormal external nose morphology	1406	CRX	ORPHA:791
HP:0010938	Abnormal external nose morphology	5148	PDE6G	ORPHA:791
HP:0010938	Abnormal external nose morphology	26160	IFT172	ORPHA:791
HP:0010938	Abnormal external nose morphology	26121	PRPF31	ORPHA:791
HP:0010938	Abnormal external nose morphology	583	BBS2	ORPHA:791
HP:0010938	Abnormal external nose morphology	4117	MAK	ORPHA:791
HP:0010938	Abnormal external nose morphology	25794	FSCN2	ORPHA:791
HP:0010938	Abnormal external nose morphology	375298	CERKL	ORPHA:791
HP:0010938	Abnormal external nose morphology	3420	IDH3B	ORPHA:791
HP:0010938	Abnormal external nose morphology	57670	KIAA1549	ORPHA:791
HP:0010938	Abnormal external nose morphology	7275	TUB	ORPHA:791
HP:0010938	Abnormal external nose morphology	24148	PRPF6	ORPHA:791
HP:0010938	Abnormal external nose morphology	23418	CRB1	ORPHA:791
HP:0010938	Abnormal external nose morphology	10461	MERTK	ORPHA:791
HP:0010938	Abnormal external nose morphology	57709	SLC7A14	ORPHA:791
HP:0010938	Abnormal external nose morphology	768206	PRCD	ORPHA:791
HP:0010938	Abnormal external nose morphology	7399	USH2A	ORPHA:791
HP:0010938	Abnormal external nose morphology	23370	ARHGEF18	ORPHA:791
HP:0010938	Abnormal external nose morphology	5949	RBP3	ORPHA:791
HP:0010938	Abnormal external nose morphology	6010	RHO	ORPHA:791
HP:0010938	Abnormal external nose morphology	6100	RP9	ORPHA:791
HP:0010938	Abnormal external nose morphology	10002	NR2E3	ORPHA:791
HP:0010938	Abnormal external nose morphology	9227	LRAT	ORPHA:791
HP:0010938	Abnormal external nose morphology	84140	FAM161A	ORPHA:791
HP:0010938	Abnormal external nose morphology	55812	SPATA7	ORPHA:791
HP:0010938	Abnormal external nose morphology	55624	POMGNT1	ORPHA:791
HP:0010938	Abnormal external nose morphology	79797	ZNF408	ORPHA:791
HP:0010938	Abnormal external nose morphology	5145	PDE6A	ORPHA:791
HP:0010938	Abnormal external nose morphology	10210	TOPORS	ORPHA:791
HP:0010938	Abnormal external nose morphology	8842	PROM1	ORPHA:791
HP:0010938	Abnormal external nose morphology	9128	PRPF4	ORPHA:791
HP:0010938	Abnormal external nose morphology	145226	RDH12	ORPHA:791
HP:0010938	Abnormal external nose morphology	50939	IMPG2	ORPHA:791
HP:0010938	Abnormal external nose morphology	8481	OFD1	ORPHA:791
HP:0010938	Abnormal external nose morphology	49855	SCAPER	ORPHA:791
HP:0010938	Abnormal external nose morphology	9742	IFT140	ORPHA:791
HP:0010938	Abnormal external nose morphology	2979	GUCA1B	ORPHA:791
HP:0010938	Abnormal external nose morphology	1259	CNGA1	ORPHA:791
HP:0010938	Abnormal external nose morphology	1258	CNGB1	ORPHA:791
HP:0010938	Abnormal external nose morphology	60509	AGBL5	ORPHA:791
HP:0010938	Abnormal external nose morphology	5961	PRPH2	ORPHA:791
HP:0010938	Abnormal external nose morphology	388939	PCARE	ORPHA:791
HP:0010938	Abnormal external nose morphology	7439	BEST1	ORPHA:791
HP:0010938	Abnormal external nose morphology	9785	DHX38	ORPHA:791
HP:0010938	Abnormal external nose morphology	7287	TULP1	ORPHA:791
HP:0010938	Abnormal external nose morphology	5995	RGR	ORPHA:791
HP:0010938	Abnormal external nose morphology	9129	PRPF3	ORPHA:791
HP:0010938	Abnormal external nose morphology	55975	KLHL7	ORPHA:791
HP:0010938	Abnormal external nose morphology	3617	IMPG1	ORPHA:791
HP:0010938	Abnormal external nose morphology	94137	RP1L1	ORPHA:791
HP:0010938	Abnormal external nose morphology	5158	PDE6B	ORPHA:791
HP:0010938	Abnormal external nose morphology	6102	RP2	ORPHA:791
HP:0010938	Abnormal external nose morphology	55857	KIZ	ORPHA:791
HP:0010938	Abnormal external nose morphology	64218	SEMA4A	ORPHA:791
HP:0010938	Abnormal external nose morphology	4901	NRL	ORPHA:791
HP:0010938	Abnormal external nose morphology	157657	CFAP418	ORPHA:791
HP:0010938	Abnormal external nose morphology	10594	PRPF8	ORPHA:791
HP:0010938	Abnormal external nose morphology	84100	ARL6	ORPHA:791
HP:0010938	Abnormal external nose morphology	6295	SAG	ORPHA:791
HP:0010938	Abnormal external nose morphology	79947	DHDDS	ORPHA:791
HP:0010938	Abnormal external nose morphology	5898	RALA	OMIM:619311
HP:0010938	Abnormal external nose morphology	23013	SPEN	OMIM:619312
HP:0010938	Abnormal external nose morphology	54517	PUS7	OMIM:618342
HP:0010938	Abnormal external nose morphology	10785	WDR4	OMIM:618347
HP:0010938	Abnormal external nose morphology	79813	EHMT1	ORPHA:96147
HP:0010938	Abnormal external nose morphology	79813	EHMT1	OMIM:610253
HP:0010938	Abnormal external nose morphology	55315	SLC29A3	OMIM:602782
HP:0010938	Abnormal external nose morphology	55869	HDAC8	OMIM:300882
HP:0010938	Abnormal external nose morphology	55869	HDAC8	ORPHA:199
HP:0010938	Abnormal external nose morphology	2972	BRF1	ORPHA:444072
HP:0010938	Abnormal external nose morphology	29998	BICRA	OMIM:619325
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:254528
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:96184
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:96334
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:254528
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:96184
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:96334
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:254528
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:96184
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:96334
HP:0010938	Abnormal external nose morphology	57520	HECW2	OMIM:617268
HP:0010938	Abnormal external nose morphology	23030	KDM4B	OMIM:619320
HP:0010938	Abnormal external nose morphology	6492	SIM1	ORPHA:171829
HP:0010938	Abnormal external nose morphology	23314	SATB2	ORPHA:251019
HP:0010938	Abnormal external nose morphology	23314	SATB2	OMIM:612313
HP:0010938	Abnormal external nose morphology	4081	MAB21L1	OMIM:618479
HP:0010938	Abnormal external nose morphology	9126	SMC3	OMIM:610759
HP:0010938	Abnormal external nose morphology	9126	SMC3	ORPHA:199
HP:0010938	Abnormal external nose morphology	79068	FTO	OMIM:612938
HP:0010938	Abnormal external nose morphology	473	RERE	ORPHA:494344
HP:0010938	Abnormal external nose morphology	473	RERE	OMIM:616975
HP:0010938	Abnormal external nose morphology	4784	NFIX	OMIM:602535
HP:0010938	Abnormal external nose morphology	4784	NFIX	ORPHA:561
HP:0010938	Abnormal external nose morphology	23221	RHOBTB2	OMIM:618004
HP:0010938	Abnormal external nose morphology	22930	RAB3GAP1	OMIM:600118
HP:0010938	Abnormal external nose morphology	22930	RAB3GAP1	ORPHA:2510
HP:0010938	Abnormal external nose morphology	6601	SMARCC2	OMIM:618362
HP:0010938	Abnormal external nose morphology	6601	SMARCC2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	54496	PRMT7	OMIM:617157
HP:0010938	Abnormal external nose morphology	54496	PRMT7	ORPHA:464288
HP:0010938	Abnormal external nose morphology	92255	LMBRD2	OMIM:619694
HP:0010938	Abnormal external nose morphology	7965	AIMP2	OMIM:618006
HP:0010938	Abnormal external nose morphology	29920	PYCR2	ORPHA:481152
HP:0010938	Abnormal external nose morphology	29920	PYCR2	OMIM:616420
HP:0010938	Abnormal external nose morphology	1009	CDH11	OMIM:211380
HP:0010938	Abnormal external nose morphology	22827	PUF60	ORPHA:508488
HP:0010938	Abnormal external nose morphology	22827	PUF60	OMIM:615583
HP:0010938	Abnormal external nose morphology	2261	FGFR3	ORPHA:15
HP:0010938	Abnormal external nose morphology	80311	KLHL15	OMIM:300982
HP:0010938	Abnormal external nose morphology	6045	RNF2	OMIM:619460
HP:0010938	Abnormal external nose morphology	1781	DYNC1I2	OMIM:618492
HP:0010938	Abnormal external nose morphology	774	CACNA1B	OMIM:618497
HP:0010938	Abnormal external nose morphology	3977	LIFR	OMIM:601559
HP:0010938	Abnormal external nose morphology	5277	PIGA	OMIM:300868
HP:0010938	Abnormal external nose morphology	4613	MYCN	OMIM:164280
HP:0010938	Abnormal external nose morphology	23384	SPECC1L	OMIM:145420
HP:0010938	Abnormal external nose morphology	5573	PRKAR1A	OMIM:101800
HP:0010938	Abnormal external nose morphology	5573	PRKAR1A	ORPHA:950
HP:0010938	Abnormal external nose morphology	5573	PRKAR1A	ORPHA:280651
HP:0010938	Abnormal external nose morphology	9244	CRLF1	OMIM:272430
HP:0010938	Abnormal external nose morphology	9244	CRLF1	ORPHA:1545
HP:0010938	Abnormal external nose morphology	9343	EFTUD2	OMIM:610536
HP:0010938	Abnormal external nose morphology	6611	SMS	ORPHA:3063
HP:0010938	Abnormal external nose morphology	6611	SMS	OMIM:309583
HP:0010938	Abnormal external nose morphology	5281	PIGF	OMIM:619356
HP:0010938	Abnormal external nose morphology	5977	DPF2	OMIM:618027
HP:0010938	Abnormal external nose morphology	5977	DPF2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6711	SPTBN1	OMIM:619475
HP:0010938	Abnormal external nose morphology	80036	TRPM3	OMIM:620224
HP:0010938	Abnormal external nose morphology	4796	TONSL	OMIM:271510
HP:0010938	Abnormal external nose morphology	4796	TONSL	ORPHA:93357
HP:0010938	Abnormal external nose morphology	526	ATP6V1B2	ORPHA:79500
HP:0010938	Abnormal external nose morphology	57465	TBC1D24	ORPHA:79500
HP:0010938	Abnormal external nose morphology	57465	TBC1D24	OMIM:220500
HP:0010938	Abnormal external nose morphology	207	AKT1	ORPHA:744
HP:0010938	Abnormal external nose morphology	23405	DICER1	OMIM:618272
HP:0010938	Abnormal external nose morphology	136647	MPLKIP	OMIM:234050
HP:0010938	Abnormal external nose morphology	1457	CSNK2A1	OMIM:617062
HP:0010938	Abnormal external nose morphology	3636	INPPL1	OMIM:258480
HP:0010938	Abnormal external nose morphology	2077	ERF	OMIM:617180
HP:0010938	Abnormal external nose morphology	2571	GAD1	OMIM:619124
HP:0010938	Abnormal external nose morphology	285590	SH3PXD2B	OMIM:249420
HP:0010938	Abnormal external nose morphology	374879	ZNF699	OMIM:619488
HP:0010938	Abnormal external nose morphology	8567	MADD	OMIM:619005
HP:0010938	Abnormal external nose morphology	29123	ANKRD11	ORPHA:261250
HP:0010938	Abnormal external nose morphology	29123	ANKRD11	OMIM:148050
HP:0010938	Abnormal external nose morphology	29123	ANKRD11	ORPHA:2332
HP:0010938	Abnormal external nose morphology	10220	GDF11	OMIM:619122
HP:0010938	Abnormal external nose morphology	9508	ADAMTS3	OMIM:618154
HP:0010938	Abnormal external nose morphology	1654	DDX3X	OMIM:300958
HP:0010938	Abnormal external nose morphology	93587	TRMT10A	ORPHA:391408
HP:0010938	Abnormal external nose morphology	84919	PPP1R15B	ORPHA:391408
HP:0010938	Abnormal external nose morphology	2799	GNS	OMIM:252940
HP:0010938	Abnormal external nose morphology	9759	HDAC4	OMIM:600430
HP:0010938	Abnormal external nose morphology	9759	HDAC4	ORPHA:1001
HP:0010938	Abnormal external nose morphology	3090	HIC1	ORPHA:531
HP:0010938	Abnormal external nose morphology	5048	PAFAH1B1	ORPHA:531
HP:0010938	Abnormal external nose morphology	7531	YWHAE	ORPHA:531
HP:0010938	Abnormal external nose morphology	57020	VPS35L	OMIM:619135
HP:0010938	Abnormal external nose morphology	4781	NFIB	OMIM:618286
HP:0010938	Abnormal external nose morphology	3643	INSR	ORPHA:769
HP:0010938	Abnormal external nose morphology	84081	NSRP1	OMIM:620001
HP:0010938	Abnormal external nose morphology	7474	WNT5A	OMIM:180700
HP:0010938	Abnormal external nose morphology	7474	WNT5A	ORPHA:3107
HP:0010938	Abnormal external nose morphology	1795	DOCK3	OMIM:618292
HP:0010938	Abnormal external nose morphology	129285	PPP1R21	OMIM:619383
HP:0010938	Abnormal external nose morphology	84842	HPDL	OMIM:619026
HP:0010938	Abnormal external nose morphology	5144	PDE4D	ORPHA:950
HP:0010938	Abnormal external nose morphology	5144	PDE4D	OMIM:614613
HP:0010938	Abnormal external nose morphology	5144	PDE4D	ORPHA:280651
HP:0010938	Abnormal external nose morphology	8243	SMC1A	OMIM:300590
HP:0010938	Abnormal external nose morphology	8243	SMC1A	OMIM:301044
HP:0010938	Abnormal external nose morphology	8243	SMC1A	ORPHA:199
HP:0010938	Abnormal external nose morphology	10128	LRPPRC	OMIM:220111
HP:0010938	Abnormal external nose morphology	158	ADSL	OMIM:103050
HP:0010938	Abnormal external nose morphology	158	ADSL	ORPHA:46
HP:0010938	Abnormal external nose morphology	9131	AIFM1	OMIM:300232
HP:0010938	Abnormal external nose morphology	9131	AIFM1	ORPHA:83629
HP:0010938	Abnormal external nose morphology	6309	SC5D	ORPHA:46059
HP:0010938	Abnormal external nose morphology	6309	SC5D	OMIM:607330
HP:0010938	Abnormal external nose morphology	55503	TRPV6	OMIM:618188
HP:0010938	Abnormal external nose morphology	5885	RAD21	OMIM:614701
HP:0010938	Abnormal external nose morphology	5885	RAD21	ORPHA:199
HP:0010938	Abnormal external nose morphology	673	BRAF	OMIM:115150
HP:0010938	Abnormal external nose morphology	673	BRAF	ORPHA:1340
HP:0010938	Abnormal external nose morphology	145173	B3GLCT	ORPHA:709
HP:0010938	Abnormal external nose morphology	4774	NFIA	OMIM:613735
HP:0010938	Abnormal external nose morphology	2629	GBA1	OMIM:608013
HP:0010938	Abnormal external nose morphology	2629	GBA1	ORPHA:85212
HP:0010938	Abnormal external nose morphology	4281	MID1	OMIM:300000
HP:0010938	Abnormal external nose morphology	4281	MID1	ORPHA:2745
HP:0010938	Abnormal external nose morphology	80232	WDR26	ORPHA:513456
HP:0010938	Abnormal external nose morphology	80232	WDR26	OMIM:617616
HP:0010938	Abnormal external nose morphology	8443	GNPAT	OMIM:222765
HP:0010938	Abnormal external nose morphology	89910	UBE3B	OMIM:244450
HP:0010938	Abnormal external nose morphology	51506	UFC1	OMIM:618076
HP:0010938	Abnormal external nose morphology	9442	MED27	OMIM:619286
HP:0010938	Abnormal external nose morphology	2314	FLII	ORPHA:819
HP:0010938	Abnormal external nose morphology	23096	IQSEC2	ORPHA:819
HP:0010938	Abnormal external nose morphology	10743	RAI1	ORPHA:819
HP:0010938	Abnormal external nose morphology	10522	DEAF1	ORPHA:819
HP:0010938	Abnormal external nose morphology	1717	DHCR7	ORPHA:818
HP:0010938	Abnormal external nose morphology	1717	DHCR7	OMIM:270400
HP:0010938	Abnormal external nose morphology	10225	CD96	OMIM:211750
HP:0010938	Abnormal external nose morphology	10225	CD96	ORPHA:1308
HP:0010938	Abnormal external nose morphology	9382	COG1	OMIM:611209
HP:0010938	Abnormal external nose morphology	6197	RPS6KA3	OMIM:303600
HP:0010938	Abnormal external nose morphology	6197	RPS6KA3	ORPHA:192
HP:0010938	Abnormal external nose morphology	56992	KIF15	ORPHA:261323
HP:0010938	Abnormal external nose morphology	64324	NSD1	OMIM:117550
HP:0010938	Abnormal external nose morphology	9739	SETD1A	OMIM:619056
HP:0010938	Abnormal external nose morphology	5119	CHMP1A	OMIM:614961
HP:0010938	Abnormal external nose morphology	93627	TBCK	OMIM:616900
HP:0010938	Abnormal external nose morphology	8289	ARID1A	OMIM:614607
HP:0010938	Abnormal external nose morphology	8289	ARID1A	ORPHA:1465
HP:0010938	Abnormal external nose morphology	2200	FBN1	ORPHA:969
HP:0010938	Abnormal external nose morphology	2200	FBN1	ORPHA:2462
HP:0010938	Abnormal external nose morphology	2200	FBN1	OMIM:102370
HP:0010938	Abnormal external nose morphology	4054	LTBP3	ORPHA:969
HP:0010938	Abnormal external nose morphology	4054	LTBP3	OMIM:617809
HP:0010938	Abnormal external nose morphology	546	ATRX	ORPHA:847
HP:0010938	Abnormal external nose morphology	546	ATRX	OMIM:309580
HP:0010938	Abnormal external nose morphology	546	ATRX	OMIM:301040
HP:0010938	Abnormal external nose morphology	6598	SMARCB1	OMIM:614608
HP:0010938	Abnormal external nose morphology	6598	SMARCB1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6597	SMARCA4	OMIM:614609
HP:0010938	Abnormal external nose morphology	6597	SMARCA4	ORPHA:1465
HP:0010938	Abnormal external nose morphology	55697	VAC14	ORPHA:3472
HP:0010938	Abnormal external nose morphology	26053	AUTS2	ORPHA:352490
HP:0010938	Abnormal external nose morphology	26053	AUTS2	OMIM:615834
HP:0010938	Abnormal external nose morphology	23036	ZNF292	OMIM:619188
HP:0010938	Abnormal external nose morphology	6885	MAP3K7	OMIM:157800
HP:0010938	Abnormal external nose morphology	1954	MEGF8	OMIM:614976
HP:0010938	Abnormal external nose morphology	124512	METTL23	OMIM:615942
HP:0010938	Abnormal external nose morphology	2752	GLUL	OMIM:610015
HP:0010938	Abnormal external nose morphology	25942	SIN3A	OMIM:613406
HP:0010938	Abnormal external nose morphology	3425	IDUA	OMIM:607014
HP:0010938	Abnormal external nose morphology	3425	IDUA	ORPHA:93473
HP:0010938	Abnormal external nose morphology	3265	HRAS	OMIM:218040
HP:0010938	Abnormal external nose morphology	3265	HRAS	OMIM:137550
HP:0010938	Abnormal external nose morphology	7025	NR2F1	ORPHA:401777
HP:0010938	Abnormal external nose morphology	7025	NR2F1	OMIM:615722
HP:0010938	Abnormal external nose morphology	5063	PAK3	OMIM:300558
HP:0010938	Abnormal external nose morphology	56006	SMG9	OMIM:616920
HP:0010938	Abnormal external nose morphology	1857	DVL3	ORPHA:3107
HP:0010938	Abnormal external nose morphology	1857	DVL3	OMIM:616894
HP:0010938	Abnormal external nose morphology	2535	FZD2	ORPHA:3107
HP:0010938	Abnormal external nose morphology	285175	UNC80	OMIM:616801
HP:0010938	Abnormal external nose morphology	285175	UNC80	ORPHA:371364
HP:0010938	Abnormal external nose morphology	3211	HOXB1	OMIM:614744
HP:0010938	Abnormal external nose morphology	54499	TMCO1	OMIM:213980
HP:0010938	Abnormal external nose morphology	9719	ADAMTSL2	OMIM:231050
HP:0010938	Abnormal external nose morphology	11128	POLR3A	OMIM:264090
HP:0010938	Abnormal external nose morphology	11128	POLR3A	ORPHA:3455
HP:0010938	Abnormal external nose morphology	55165	CEP55	OMIM:236500
HP:0010938	Abnormal external nose morphology	1280	COL2A1	OMIM:108300
HP:0010938	Abnormal external nose morphology	84992	PIGY	OMIM:616809
HP:0010938	Abnormal external nose morphology	5594	MAPK1	OMIM:619087
HP:0010938	Abnormal external nose morphology	471	ATIC	OMIM:608688
HP:0010938	Abnormal external nose morphology	51085	MLXIPL	OMIM:194050
HP:0010938	Abnormal external nose morphology	2006	ELN	OMIM:194050
HP:0010938	Abnormal external nose morphology	55691	FRMD4A	OMIM:616819
HP:0010938	Abnormal external nose morphology	55691	FRMD4A	ORPHA:466688
HP:0010938	Abnormal external nose morphology	63895	PIEZO2	OMIM:248700
HP:0010938	Abnormal external nose morphology	55670	PEX26	ORPHA:44
HP:0010938	Abnormal external nose morphology	5824	PEX19	ORPHA:44
HP:0010938	Abnormal external nose morphology	5828	PEX2	ORPHA:44
HP:0010938	Abnormal external nose morphology	8504	PEX3	ORPHA:44
HP:0010938	Abnormal external nose morphology	9409	PEX16	ORPHA:44
HP:0010938	Abnormal external nose morphology	5190	PEX6	ORPHA:44
HP:0010938	Abnormal external nose morphology	8799	PEX11B	ORPHA:44
HP:0010938	Abnormal external nose morphology	5193	PEX12	ORPHA:44
HP:0010938	Abnormal external nose morphology	5194	PEX13	ORPHA:44
HP:0010938	Abnormal external nose morphology	5194	PEX13	OMIM:614883
HP:0010938	Abnormal external nose morphology	5195	PEX14	ORPHA:44
HP:0010938	Abnormal external nose morphology	5192	PEX10	ORPHA:44
HP:0010938	Abnormal external nose morphology	9652	SKIC3	OMIM:222470
HP:0010938	Abnormal external nose morphology	1836	SLC26A2	ORPHA:93298
HP:0010938	Abnormal external nose morphology	9321	TRIP11	ORPHA:93299
HP:0010938	Abnormal external nose morphology	9321	TRIP11	OMIM:200600
HP:0010938	Abnormal external nose morphology	79791	FBXO31	OMIM:615979
HP:0010938	Abnormal external nose morphology	85440	DOCK7	OMIM:615859
HP:0010938	Abnormal external nose morphology	85440	DOCK7	ORPHA:411986
HP:0010938	Abnormal external nose morphology	701	BUB1B	OMIM:257300
HP:0010938	Abnormal external nose morphology	117581	TWIST2	ORPHA:920
HP:0010938	Abnormal external nose morphology	117581	TWIST2	ORPHA:1231
HP:0010938	Abnormal external nose morphology	117581	TWIST2	OMIM:209885
HP:0010938	Abnormal external nose morphology	55023	PHIP	ORPHA:589905
HP:0010938	Abnormal external nose morphology	55023	PHIP	OMIM:617991
HP:0010938	Abnormal external nose morphology	2702	GJA5	OMIM:612474
HP:0010938	Abnormal external nose morphology	2703	GJA8	OMIM:612474
HP:0010938	Abnormal external nose morphology	867	CBL	OMIM:613563
HP:0010938	Abnormal external nose morphology	51025	PAM16	OMIM:613320
HP:0010938	Abnormal external nose morphology	51053	GMNN	OMIM:616835
HP:0010938	Abnormal external nose morphology	2245	FGD1	ORPHA:915
HP:0010938	Abnormal external nose morphology	2245	FGD1	OMIM:305400
HP:0010938	Abnormal external nose morphology	6497	SKI	ORPHA:2462
HP:0010938	Abnormal external nose morphology	6497	SKI	OMIM:182212
HP:0010938	Abnormal external nose morphology	6664	SOX11	OMIM:615866
HP:0010938	Abnormal external nose morphology	6664	SOX11	ORPHA:1465
HP:0010938	Abnormal external nose morphology	55906	ZC4H2	OMIM:301041
HP:0010938	Abnormal external nose morphology	55906	ZC4H2	OMIM:314580
HP:0010938	Abnormal external nose morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010938	Abnormal external nose morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010938	Abnormal external nose morphology	23394	ADNP	OMIM:615873
HP:0010938	Abnormal external nose morphology	1788	DNMT3A	OMIM:615879
HP:0010938	Abnormal external nose morphology	23028	KDM1A	OMIM:616728
HP:0010938	Abnormal external nose morphology	23028	KDM1A	ORPHA:477993
HP:0010938	Abnormal external nose morphology	5160	PDHA1	OMIM:312170
HP:0010938	Abnormal external nose morphology	84162	BLTP1	OMIM:617822
HP:0010938	Abnormal external nose morphology	3097	HIVEP2	OMIM:616977
HP:0010938	Abnormal external nose morphology	5339	PLEC	OMIM:612138
HP:0010938	Abnormal external nose morphology	3767	KCNJ11	ORPHA:79134
HP:0010938	Abnormal external nose morphology	79731	NARS2	ORPHA:79134
HP:0010938	Abnormal external nose morphology	6833	ABCC8	ORPHA:79134
HP:0010938	Abnormal external nose morphology	5053	PAH	ORPHA:2209
HP:0010938	Abnormal external nose morphology	101929726	MYMX	ORPHA:1358
HP:0010938	Abnormal external nose morphology	101929726	MYMX	OMIM:619941
HP:0010938	Abnormal external nose morphology	10265	IRX5	OMIM:611174
HP:0010938	Abnormal external nose morphology	6602	SMARCD1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	57492	ARID1B	ORPHA:1465
HP:0010938	Abnormal external nose morphology	196528	ARID2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6605	SMARCE1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	134701	RIPPLY2	ORPHA:2311
HP:0010938	Abnormal external nose morphology	10683	DLL3	ORPHA:2311
HP:0010938	Abnormal external nose morphology	3955	LFNG	ORPHA:2311
HP:0010938	Abnormal external nose morphology	84667	HES7	ORPHA:2311
HP:0010938	Abnormal external nose morphology	145873	MESP2	ORPHA:2311
HP:0010938	Abnormal external nose morphology	91137	SLC25A46	OMIM:616505
HP:0010938	Abnormal external nose morphology	5604	MAP2K1	ORPHA:1340
HP:0010938	Abnormal external nose morphology	5605	MAP2K2	ORPHA:1340
HP:0010938	Abnormal external nose morphology	57211	ADGRG6	OMIM:616503
HP:0010938	Abnormal external nose morphology	2248	FGF3	ORPHA:2791
HP:0010938	Abnormal external nose morphology	2138	EYA1	ORPHA:2792
HP:0010938	Abnormal external nose morphology	5075	PAX1	ORPHA:2792
HP:0010938	Abnormal external nose morphology	79583	TMEM231	ORPHA:2318
HP:0010938	Abnormal external nose morphology	51524	TMEM138	ORPHA:2318
HP:0010938	Abnormal external nose morphology	23090	ZNF423	ORPHA:2318
HP:0010938	Abnormal external nose morphology	80184	CEP290	ORPHA:2318
HP:0010938	Abnormal external nose morphology	51259	TMEM216	ORPHA:2318
HP:0010938	Abnormal external nose morphology	57545	CC2D2A	ORPHA:2318
HP:0010938	Abnormal external nose morphology	57545	CC2D2A	ORPHA:1454
HP:0010938	Abnormal external nose morphology	10943	MSL3	OMIM:301032
HP:0010938	Abnormal external nose morphology	5745	PTH1R	ORPHA:50945
HP:0010938	Abnormal external nose morphology	8985	PLOD3	OMIM:612394
HP:0010938	Abnormal external nose morphology	128637	TBC1D20	OMIM:615663
HP:0010938	Abnormal external nose morphology	128637	TBC1D20	ORPHA:2510
HP:0010938	Abnormal external nose morphology	175	AGA	OMIM:208400
HP:0010938	Abnormal external nose morphology	55210	ATAD3A	OMIM:618810
HP:0010938	Abnormal external nose morphology	9419	CRIPT	OMIM:615789
HP:0010938	Abnormal external nose morphology	6638	SNRPN	ORPHA:177907
HP:0010938	Abnormal external nose morphology	2313	FLI1	ORPHA:2308
HP:0010938	Abnormal external nose morphology	60	ACTB	OMIM:243310
HP:0010938	Abnormal external nose morphology	23476	BRD4	ORPHA:199
HP:0010938	Abnormal external nose morphology	10664	CTCF	ORPHA:363611
HP:0010938	Abnormal external nose morphology	10367	MICU1	OMIM:615673
HP:0010938	Abnormal external nose morphology	7204	TRIO	OMIM:618825
HP:0010938	Abnormal external nose morphology	1861	TOR1A	OMIM:618947
HP:0010938	Abnormal external nose morphology	4329	ALDH6A1	OMIM:614105
HP:0010938	Abnormal external nose morphology	5293	PIK3CD	ORPHA:221139
HP:0010938	Abnormal external nose morphology	90417	KNSTRN	ORPHA:221139
HP:0010938	Abnormal external nose morphology	8405	SPOP	OMIM:618829
HP:0010938	Abnormal external nose morphology	6925	TCF4	ORPHA:2896
HP:0010938	Abnormal external nose morphology	23545	ATP6V0A2	OMIM:219200
HP:0010938	Abnormal external nose morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010938	Abnormal external nose morphology	23630	KCNE5	ORPHA:86818
HP:0010938	Abnormal external nose morphology	2182	ACSL4	ORPHA:86818
HP:0010938	Abnormal external nose morphology	9949	AMMECR1	ORPHA:86818
HP:0010938	Abnormal external nose morphology	284252	KCTD1	OMIM:181270
HP:0010938	Abnormal external nose morphology	4893	NRAS	OMIM:137550
HP:0010938	Abnormal external nose morphology	51124	IER3IP1	OMIM:614231
HP:0010938	Abnormal external nose morphology	6911	TBX6	ORPHA:1797
HP:0010938	Abnormal external nose morphology	202018	TAPT1	OMIM:616897
HP:0010938	Abnormal external nose morphology	1806	DPYD	ORPHA:1675
HP:0010938	Abnormal external nose morphology	3832	KIF11	ORPHA:2526
HP:0010938	Abnormal external nose morphology	3832	KIF11	OMIM:152950
HP:0010938	Abnormal external nose morphology	100506658	OCLN	OMIM:251290
HP:0010938	Abnormal external nose morphology	3756	KCNH1	ORPHA:420561
HP:0010938	Abnormal external nose morphology	126792	B3GALT6	ORPHA:536467
HP:0010938	Abnormal external nose morphology	5331	PLCB3	OMIM:618961
HP:0010938	Abnormal external nose morphology	9320	TRIP12	OMIM:617752
HP:0010938	Abnormal external nose morphology	523	ATP6V1A	ORPHA:357074
HP:0010938	Abnormal external nose morphology	529	ATP6V1E1	ORPHA:357074
HP:0010938	Abnormal external nose morphology	529	ATP6V1E1	OMIM:617402
HP:0010938	Abnormal external nose morphology	5879	RAC1	OMIM:617751
HP:0010938	Abnormal external nose morphology	5879	RAC1	ORPHA:500159
HP:0010938	Abnormal external nose morphology	26503	SLC17A5	OMIM:269920
HP:0010938	Abnormal external nose morphology	650	BMP2	OMIM:617877
HP:0010938	Abnormal external nose morphology	738	VPS51	OMIM:618606
HP:0010938	Abnormal external nose morphology	5449	POU1F1	OMIM:613038
HP:0010938	Abnormal external nose morphology	85378	TUBGCP6	ORPHA:2518
HP:0010938	Abnormal external nose morphology	27229	TUBGCP4	ORPHA:2518
HP:0010938	Abnormal external nose morphology	10733	PLK4	ORPHA:2518
HP:0010938	Abnormal external nose morphology	9939	RBM8A	OMIM:274000
HP:0010938	Abnormal external nose morphology	4848	CNOT2	OMIM:618608
HP:0010938	Abnormal external nose morphology	25782	RAB3GAP2	ORPHA:2510
HP:0010938	Abnormal external nose morphology	22931	RAB18	ORPHA:2510
HP:0010938	Abnormal external nose morphology	64131	XYLT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	124583	CANT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	23529	CLCF1	ORPHA:1545
HP:0010938	Abnormal external nose morphology	4204	MECP2	OMIM:300260
HP:0010938	Abnormal external nose morphology	57647	DHX37	OMIM:618731
HP:0010938	Abnormal external nose morphology	23404	EXOSC2	OMIM:617763
HP:0010938	Abnormal external nose morphology	672	BRCA1	OMIM:617883
HP:0010938	Abnormal external nose morphology	5087	PBX1	OMIM:617641
HP:0010938	Abnormal external nose morphology	92935	MARS2	OMIM:616430
HP:0010938	Abnormal external nose morphology	10082	GPC6	ORPHA:93329
HP:0010938	Abnormal external nose morphology	4858	NOVA2	OMIM:618859
HP:0010938	Abnormal external nose morphology	58499	ZNF462	OMIM:618619
HP:0010938	Abnormal external nose morphology	55777	MBD5	OMIM:156200
HP:0010938	Abnormal external nose morphology	4123	MAN2C1	OMIM:619775
HP:0010938	Abnormal external nose morphology	8260	NAA10	OMIM:300855
HP:0010938	Abnormal external nose morphology	8260	NAA10	ORPHA:276432
HP:0010938	Abnormal external nose morphology	2033	EP300	OMIM:180849
HP:0010938	Abnormal external nose morphology	64327	LMBR1	ORPHA:2378
HP:0010938	Abnormal external nose morphology	79005	SCNM1	OMIM:620107
HP:0010938	Abnormal external nose morphology	1063	CENPF	OMIM:243605
HP:0010938	Abnormal external nose morphology	415	ARSL	ORPHA:79345
HP:0010938	Abnormal external nose morphology	71	ACTG1	ORPHA:2995
HP:0010938	Abnormal external nose morphology	257	ALX3	OMIM:136760
HP:0010938	Abnormal external nose morphology	113189	CHST14	OMIM:601776
HP:0010938	Abnormal external nose morphology	7403	KDM6A	OMIM:300867
HP:0010938	Abnormal external nose morphology	7403	KDM6A	ORPHA:2322
HP:0010938	Abnormal external nose morphology	8085	KMT2D	ORPHA:2322
HP:0010938	Abnormal external nose morphology	7291	TWIST1	OMIM:617746
HP:0010938	Abnormal external nose morphology	55623	THUMPD1	OMIM:619989
HP:0010938	Abnormal external nose morphology	4297	KMT2A	OMIM:605130
HP:0010938	Abnormal external nose morphology	64840	PORCN	OMIM:305600
HP:0010938	Abnormal external nose morphology	341640	FREM2	ORPHA:2052
HP:0010938	Abnormal external nose morphology	80144	FRAS1	ORPHA:2052
HP:0010938	Abnormal external nose morphology	80144	FRAS1	OMIM:219000
HP:0010938	Abnormal external nose morphology	23426	GRIP1	ORPHA:2052
HP:0010938	Abnormal external nose morphology	3763	KCNJ6	ORPHA:435628
HP:0010938	Abnormal external nose morphology	26038	CHD5	OMIM:619873
HP:0010938	Abnormal external nose morphology	1139	CHRNA7	ORPHA:199318
HP:0010938	Abnormal external nose morphology	5530	PPP3CA	OMIM:617711
HP:0010938	Abnormal external nose morphology	201163	FLCN	OMIM:610883
HP:0010938	Abnormal external nose morphology	9839	ZEB2	OMIM:235730
HP:0010938	Abnormal external nose morphology	283209	PGM2L1	OMIM:620191
HP:0010938	Abnormal external nose morphology	7703	PCGF2	OMIM:618371
HP:0010938	Abnormal external nose morphology	6857	SYT1	ORPHA:522077
HP:0010938	Abnormal external nose morphology	6857	SYT1	OMIM:618218
HP:0010938	Abnormal external nose morphology	5567	PRKACB	OMIM:619143
HP:0010938	Abnormal external nose morphology	4256	MGP	OMIM:245150
HP:0010938	Abnormal external nose morphology	1947	EFNB1	OMIM:304110
HP:0010938	Abnormal external nose morphology	6650	CAPN15	OMIM:619318
HP:0010938	Abnormal external nose morphology	10236	HNRNPR	OMIM:620073
HP:0010938	Abnormal external nose morphology	4247	MGAT2	ORPHA:79329
HP:0010938	Abnormal external nose morphology	4247	MGAT2	OMIM:212066
HP:0010938	Abnormal external nose morphology	9241	NOG	OMIM:184460
HP:0010938	Abnormal external nose morphology	79228	THOC6	ORPHA:363444
HP:0010938	Abnormal external nose morphology	79228	THOC6	OMIM:613680
HP:0010938	Abnormal external nose morphology	7707	ZNF148	OMIM:617260
HP:0010938	Abnormal external nose morphology	3021	H3-3B	OMIM:619721
HP:0010938	Abnormal external nose morphology	56098	PCDHGC4	OMIM:619880
HP:0010938	Abnormal external nose morphology	83737	ITCH	OMIM:613385
HP:0010938	Abnormal external nose morphology	51111	KMT5B	OMIM:617788
HP:0010938	Abnormal external nose morphology	29072	SETD2	OMIM:620157
HP:0010938	Abnormal external nose morphology	29072	SETD2	OMIM:620155
HP:0010938	Abnormal external nose morphology	57082	KNL1	OMIM:604321
HP:0010938	Abnormal external nose morphology	6904	TBCD	OMIM:617193
HP:0010938	Abnormal external nose morphology	51780	KDM3B	OMIM:618846
HP:0010938	Abnormal external nose morphology	7994	KAT6A	OMIM:616268
HP:0010938	Abnormal external nose morphology	6261	RYR1	OMIM:619542
HP:0010938	Abnormal external nose morphology	3188	HNRNPH2	OMIM:300986
HP:0010938	Abnormal external nose morphology	57178	ZMIZ1	OMIM:618659
HP:0010938	Abnormal external nose morphology	6878	TAF6	OMIM:617126
HP:0010938	Abnormal external nose morphology	7319	UBE2A	ORPHA:163956
HP:0010938	Abnormal external nose morphology	25886	POC1A	OMIM:614813
HP:0010938	Abnormal external nose morphology	1499	CTNNB1	ORPHA:404473
HP:0010938	Abnormal external nose morphology	4763	NF1	ORPHA:139474
HP:0010938	Abnormal external nose morphology	387	RHOA	OMIM:618727
HP:0010938	Abnormal external nose morphology	5727	PTCH1	OMIM:610828
HP:0010938	Abnormal external nose morphology	2068	ERCC2	ORPHA:910
HP:0010938	Abnormal external nose morphology	7507	XPA	ORPHA:910
HP:0010938	Abnormal external nose morphology	2071	ERCC3	ORPHA:910
HP:0010938	Abnormal external nose morphology	7508	XPC	ORPHA:910
HP:0010938	Abnormal external nose morphology	1643	DDB2	ORPHA:910
HP:0010938	Abnormal external nose morphology	2072	ERCC4	ORPHA:910
HP:0010938	Abnormal external nose morphology	2073	ERCC5	ORPHA:910
HP:0010938	Abnormal external nose morphology	5286	PIK3C2A	OMIM:618440
HP:0010938	Abnormal external nose morphology	5286	PIK3C2A	ORPHA:557003
HP:0010938	Abnormal external nose morphology	51109	RDH11	ORPHA:436245
HP:0010938	Abnormal external nose morphology	57688	ZSWIM6	OMIM:617865
HP:0010938	Abnormal external nose morphology	10283	CWC27	OMIM:250410
HP:0010938	Abnormal external nose morphology	10283	CWC27	ORPHA:166035
HP:0010938	Abnormal external nose morphology	150468	CKAP2L	ORPHA:3255
HP:0010938	Abnormal external nose morphology	79796	ALG9	ORPHA:79328
HP:0010938	Abnormal external nose morphology	54084	TSPEAR	OMIM:618180
HP:0010938	Abnormal external nose morphology	23483	TGDS	OMIM:616145
HP:0010938	Abnormal external nose morphology	23019	CNOT1	ORPHA:556955
HP:0010938	Abnormal external nose morphology	3479	IGF1	ORPHA:73272
HP:0010938	Abnormal external nose morphology	4921	DDR2	OMIM:271665
HP:0010938	Abnormal external nose morphology	26235	FBXL4	OMIM:615471
HP:0010938	Abnormal external nose morphology	6777	STAT5B	OMIM:245590
HP:0010938	Abnormal external nose morphology	126695	KDF1	OMIM:617337
HP:0010938	Abnormal external nose morphology	85358	SHANK3	OMIM:606232
HP:0010938	Abnormal external nose morphology	3339	HSPG2	OMIM:255800
HP:0010938	Abnormal external nose morphology	10682	EBP	OMIM:302960
HP:0010938	Abnormal external nose morphology	9401	RECQL4	OMIM:218600
HP:0010938	Abnormal external nose morphology	4792	NFKBIA	OMIM:612132
HP:0010938	Abnormal external nose morphology	5184	PEPD	OMIM:170100
HP:0010938	Abnormal external nose morphology	182	JAG1	OMIM:118450
HP:0010938	Abnormal external nose morphology	2542	SLC37A4	OMIM:619525
HP:0010938	Abnormal external nose morphology	3559	IL2RA	OMIM:606367
HP:0010938	Abnormal external nose morphology	2296	FOXC1	OMIM:602482
HP:0010938	Abnormal external nose morphology	50964	SOST	OMIM:122860
HP:0010938	Abnormal external nose morphology	4000	LMNA	ORPHA:740
HP:0010938	Abnormal external nose morphology	10269	ZMPSTE24	ORPHA:740
HP:0010938	Abnormal external nose morphology	8550	MAPKAPK5	OMIM:619869
HP:0010938	Abnormal external nose morphology	25839	COG4	ORPHA:85172
HP:0010938	Abnormal external nose morphology	29081	METTL5	OMIM:618665
HP:0010938	Abnormal external nose morphology	5566	PRKACA	OMIM:619142
HP:0010938	Abnormal external nose morphology	1822	ATN1	OMIM:618494
HP:0010938	Abnormal external nose morphology	7043	TGFB3	OMIM:615582
HP:0010938	Abnormal external nose morphology	6134	RPL10	ORPHA:459070
HP:0010938	Abnormal external nose morphology	23512	SUZ12	OMIM:618786
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5076	PAX2	ORPHA:97362
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5087	PBX1	ORPHA:97362
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4791	NFKB2	ORPHA:293978
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5447	POR	OMIM:201750
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54809	SAMD9	OMIM:617053
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	ORPHA:466650
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	ORPHA:423
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	OMIM:145600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10058	ABCB6	ORPHA:90044
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10058	ABCB6	OMIM:609153
HP:0010930	Abnormal blood monovalent inorganic cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2556	GABRA3	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	779	CACNA1S	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	779	CACNA1S	ORPHA:423
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23175	LPIN1	OMIM:268200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23175	LPIN1	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6340	SCNN1G	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6340	SCNN1G	OMIM:620126
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6337	SCNN1A	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6337	SCNN1A	OMIM:264350
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6338	SCNN1B	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6338	SCNN1B	OMIM:620125
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4306	NR3C2	OMIM:177735
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6513	SLC2A1	OMIM:608885
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3284	HSD3B2	ORPHA:90791
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3284	HSD3B2	OMIM:201810
HP:0010930	Abnormal blood monovalent inorganic cation concentration	771	CA12	OMIM:143860
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9095	TBX19	ORPHA:199296
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10463	SLC30A9	OMIM:617595
HP:0010930	Abnormal blood monovalent inorganic cation concentration	11232	POLG2	OMIM:618528
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1583	CYP11A1	ORPHA:168558
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1583	CYP11A1	ORPHA:289548
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	OMIM:203400
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	OMIM:610600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	ORPHA:556030
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6522	SLC4A2	OMIM:620366
HP:0010930	Abnormal blood monovalent inorganic cation concentration	226	ALDOA	ORPHA:57
HP:0010930	Abnormal blood monovalent inorganic cation concentration	56246	MRAP	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6770	STAR	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4158	MC2R	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23530	NNT	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23530	NNT	OMIM:614736
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10587	TXNRD2	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	65266	WNK4	OMIM:614491
HP:0010930	Abnormal blood monovalent inorganic cation concentration	65125	WNK1	OMIM:614492
HP:0010930	Abnormal blood monovalent inorganic cation concentration	26249	KLHL3	OMIM:614495
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8452	CUL3	OMIM:614496
HP:0010930	Abnormal blood monovalent inorganic cation concentration	27130	INVS	OMIM:602088
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5311	PKD2	OMIM:613095
HP:0010930	Abnormal blood monovalent inorganic cation concentration	776	CACNA1D	OMIM:615474
HP:0010930	Abnormal blood monovalent inorganic cation concentration	776	CACNA1D	ORPHA:369929
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3643	INSR	ORPHA:508
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3643	INSR	ORPHA:769
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3291	HSD11B2	OMIM:218030
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3291	HSD11B2	ORPHA:320
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2908	NR3C1	ORPHA:786
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3766	KCNJ10	OMIM:612780
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6514	SLC2A2	OMIM:227810
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2628	GATM	OMIM:134600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2628	GATM	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	OMIM:202010
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	ORPHA:90795
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	ORPHA:403
HP:0010930	Abnormal blood monovalent inorganic cation concentration	476	ATP1A1	OMIM:618314
HP:0010930	Abnormal blood monovalent inorganic cation concentration	866	SERPINA6	OMIM:611489
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1586	CYP17A1	ORPHA:90793
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1962	EHHADH	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	137682	NDUFAF6	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6569	SLC34A1	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	801	CALM1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3753	KCNE1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	OMIM:613677
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	ORPHA:251274
HP:0010930	Abnormal blood monovalent inorganic cation concentration	805	CALM2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6910	TBX5	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6336	SCN10A	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3757	KCNH2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9992	KCNE2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10142	AKAP9	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9722	NOS1AP	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	775	CACNA1C	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3784	KCNQ1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10345	TRDN	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6331	SCN5A	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6330	SCN4B	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	808	CALM3	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6640	SNTA1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	859	CAV3	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	287	ANK2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8671	SLC4A4	OMIM:604278
HP:0010930	Abnormal blood monovalent inorganic cation concentration	486	FXYD2	OMIM:154020
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9071	CLDN10	OMIM:617671
HP:0010930	Abnormal blood monovalent inorganic cation concentration	55898	UNC45A	OMIM:619377
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4089	SMAD4	OMIM:174900
HP:0010930	Abnormal blood monovalent inorganic cation concentration	657	BMPR1A	OMIM:174900
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50619	DEF6	OMIM:619573
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3759	KCNJ2	OMIM:170390
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1181	CLCN2	ORPHA:404
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1181	CLCN2	OMIM:605635
HP:0010930	Abnormal blood monovalent inorganic cation concentration	84133	ZNRF3	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7157	TP53	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5573	PRKAR1A	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1499	CTNNB1	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1029	CDKN2A	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7015	TERT	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	846	CASR	OMIM:601198
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50617	ATP6V0A4	OMIM:602722
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6557	SLC12A1	OMIM:601678
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1281	COL3A1	ORPHA:286
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3758	KCNJ1	OMIM:241200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	64072	CDH23	ORPHA:91347
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6559	SLC12A3	OMIM:263800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6559	SLC12A3	ORPHA:358
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9049	AIP	OMIM:219090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9101	USP8	OMIM:219090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	83483	PLVAP	OMIM:618183
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1497	CTNS	OMIM:219800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1497	CTNS	ORPHA:411634
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7809	BSND	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7809	BSND	OMIM:602522
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1188	CLCNKB	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1188	CLCNKB	OMIM:613090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1187	CLCNKA	OMIM:613090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54914	FOCAD	OMIM:619991
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8518	ELP1	ORPHA:1764
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8021	NUP214	OMIM:618426
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10102	TSFM	OMIM:610505
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5551	PRF1	OMIM:603553
HP:0010930	Abnormal blood monovalent inorganic cation concentration	190	NR0B1	OMIM:300200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1811	SLC26A3	OMIM:214700
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29072	SETD2	OMIM:620157
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29072	SETD2	OMIM:620155
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3662	IRF4	ORPHA:3452
HP:0010930	Abnormal blood monovalent inorganic cation concentration	471	ATIC	OMIM:608688
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4952	OCRL	ORPHA:534
HP:0010930	Abnormal blood monovalent inorganic cation concentration	199221	DZIP1L	ORPHA:731
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5314	PKHD1	ORPHA:731
HP:0010930	Abnormal blood monovalent inorganic cation concentration	58528	RRAGD	OMIM:620152
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10916	MAGED2	OMIM:300971
HP:0010930	Abnormal blood monovalent inorganic cation concentration	210	ALAD	ORPHA:100924
HP:0010930	Abnormal blood monovalent inorganic cation concentration	554	AVPR2	OMIM:300539
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50628	GEMIN4	OMIM:617913
HP:0010930	Abnormal blood monovalent inorganic cation concentration	51567	TDP2	OMIM:616949
HP:0010930	Abnormal blood monovalent inorganic cation concentration	79087	ALG12	ORPHA:79324
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9451	EIF2AK3	ORPHA:1667
HP:0010930	Abnormal blood monovalent inorganic cation concentration	79053	ALG8	ORPHA:79325
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1130	LYST	ORPHA:167
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4714	NDUFB8	OMIM:618252
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1371	CPOX	ORPHA:79273
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5498	PPOX	ORPHA:79473
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54938	SARS2	OMIM:613845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3145	HMBS	ORPHA:79276
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7187	TRAF3	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	81622	UNC93B1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	148022	TICAM1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7098	TLR3	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29110	TBK1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6850	SYK	OMIM:619381
HP:0010930	Abnormal blood monovalent inorganic cation concentration	359	AQP2	ORPHA:223
HP:0010930	Abnormal blood monovalent inorganic cation concentration	359	AQP2	OMIM:125800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2260	FGFR1	OMIM:615465
HP:0010930	Abnormal blood monovalent inorganic cation concentration	763	CA5A	OMIM:615751
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1828	DSG1	OMIM:615508
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9915	ARNT2	OMIM:615926
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6329	SCN4A	ORPHA:684
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6521	SLC4A1	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9780	PIEZO1	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3783	KCNN4	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10008	KCNE3	ORPHA:681
HP:0000721	Lack of spontaneous play	4204	MECP2	OMIM:300496
HP:0000721	Lack of spontaneous play	57502	NLGN4X	OMIM:300495
HP:0000721	Lack of spontaneous play	54413	NLGN3	OMIM:300425
HP:0000721	Lack of spontaneous play	6638	SNRPN	OMIM:209850
HP:0000722	Compulsive behaviors	3064	HTT	ORPHA:399
HP:0000722	Compulsive behaviors	6515	SLC2A3	ORPHA:399
HP:0000722	Compulsive behaviors	7337	UBE3A	ORPHA:238446
HP:0000722	Compulsive behaviors	23394	ADNP	ORPHA:404448
HP:0000722	Compulsive behaviors	23394	ADNP	OMIM:615873
HP:0000722	Compulsive behaviors	1183	CLCN4	OMIM:300114
HP:0000722	Compulsive behaviors	1183	CLCN4	ORPHA:485350
HP:0000722	Compulsive behaviors	9759	HDAC4	ORPHA:1001
HP:0000722	Compulsive behaviors	3067	HDC	OMIM:137580
HP:0000722	Compulsive behaviors	114798	SLITRK1	OMIM:137580
HP:0000722	Compulsive behaviors	114798	SLITRK1	OMIM:613229
HP:0000722	Compulsive behaviors	118987	PDZD8	OMIM:620021
HP:0000722	Compulsive behaviors	23126	POGZ	ORPHA:468678
HP:0000722	Compulsive behaviors	55209	SETD5	ORPHA:404440
HP:0000722	Compulsive behaviors	55209	SETD5	OMIM:615761
HP:0000722	Compulsive behaviors	2334	AFF2	ORPHA:100973
HP:0000722	Compulsive behaviors	2334	AFF2	OMIM:309548
HP:0000722	Compulsive behaviors	4774	NFIA	ORPHA:401986
HP:0000722	Compulsive behaviors	1387	CREBBP	ORPHA:353281
HP:0000722	Compulsive behaviors	1387	CREBBP	ORPHA:353277
HP:0000722	Compulsive behaviors	613	BCR	ORPHA:261330
HP:0000722	Compulsive behaviors	1399	CRKL	ORPHA:261330
HP:0000722	Compulsive behaviors	5594	MAPK1	ORPHA:261330
HP:0000722	Compulsive behaviors	23030	KDM4B	OMIM:619320
HP:0000722	Compulsive behaviors	80347	COASY	OMIM:615643
HP:0000722	Compulsive behaviors	80347	COASY	ORPHA:397725
HP:0000722	Compulsive behaviors	8239	USP9X	OMIM:300919
HP:0000722	Compulsive behaviors	6334	SCN8A	OMIM:614558
HP:0000722	Compulsive behaviors	5053	PAH	OMIM:261600
HP:0000722	Compulsive behaviors	2033	EP300	ORPHA:353284
HP:0000722	Compulsive behaviors	10847	SRCAP	ORPHA:2044
HP:0000722	Compulsive behaviors	7086	TKT	ORPHA:488618
HP:0000722	Compulsive behaviors	7086	TKT	OMIM:617044
HP:0000722	Compulsive behaviors	55636	CHD7	ORPHA:138
HP:0000722	Compulsive behaviors	9723	SEMA3E	ORPHA:138
HP:0000722	Compulsive behaviors	4952	OCRL	ORPHA:534
HP:0000722	Compulsive behaviors	2891	GRIA2	OMIM:618917
HP:0000722	Compulsive behaviors	4131	MAP1B	OMIM:618918
HP:0000722	Compulsive behaviors	64601	VPS16	OMIM:619291
HP:0000722	Compulsive behaviors	57492	ARID1B	OMIM:135900
HP:0000722	Compulsive behaviors	9968	MED12	ORPHA:93932
HP:0000722	Compulsive behaviors	9968	MED12	OMIM:309520
HP:0000722	Compulsive behaviors	7080	NKX2-1	ORPHA:209905
HP:0000722	Compulsive behaviors	1813	DRD2	ORPHA:36899
HP:0000722	Compulsive behaviors	8910	SGCE	ORPHA:36899
HP:0000722	Compulsive behaviors	8910	SGCE	OMIM:159900
HP:0000722	Compulsive behaviors	79734	KCTD17	ORPHA:36899
HP:0000722	Compulsive behaviors	1861	TOR1A	ORPHA:36899
HP:0000722	Compulsive behaviors	164	AP1G1	OMIM:619467
HP:0000722	Compulsive behaviors	26053	AUTS2	ORPHA:352490
HP:0000722	Compulsive behaviors	833	CARS1	OMIM:618891
HP:0000722	Compulsive behaviors	3188	HNRNPH2	OMIM:300986
HP:0000722	Compulsive behaviors	22995	CEP152	OMIM:614852
HP:0000722	Compulsive behaviors	79813	EHMT1	OMIM:610253
HP:0000722	Compulsive behaviors	23230	VPS13A	ORPHA:2388
HP:0000722	Compulsive behaviors	23476	BRD4	ORPHA:199
HP:0000722	Compulsive behaviors	9126	SMC3	ORPHA:199
HP:0000722	Compulsive behaviors	8243	SMC1A	ORPHA:199
HP:0000722	Compulsive behaviors	25836	NIPBL	ORPHA:199
HP:0000722	Compulsive behaviors	55869	HDAC8	ORPHA:199
HP:0000722	Compulsive behaviors	5885	RAD21	ORPHA:199
HP:0000722	Compulsive behaviors	7025	NR2F1	ORPHA:401777
HP:0000722	Compulsive behaviors	7025	NR2F1	OMIM:615722
HP:0000722	Compulsive behaviors	8493	PPM1D	OMIM:617450
HP:0000722	Compulsive behaviors	26038	CHD5	OMIM:619873
HP:0000722	Compulsive behaviors	1182	CLCN3	OMIM:619512
HP:0000722	Compulsive behaviors	5977	DPF2	OMIM:618027
HP:0000722	Compulsive behaviors	6711	SPTBN1	OMIM:619475
HP:0000722	Compulsive behaviors	2643	GCH1	ORPHA:98808
HP:0000722	Compulsive behaviors	4929	NR4A2	ORPHA:98808
HP:0000722	Compulsive behaviors	3615	IMPDH2	ORPHA:98808
HP:0000722	Compulsive behaviors	54902	TTC19	OMIM:615157
HP:0000722	Compulsive behaviors	6804	STX1A	ORPHA:904
HP:0000722	Compulsive behaviors	7461	CLIP2	ORPHA:904
HP:0000722	Compulsive behaviors	84277	DNAJC30	ORPHA:904
HP:0000722	Compulsive behaviors	8468	FKBP6	ORPHA:904
HP:0000722	Compulsive behaviors	5982	RFC2	ORPHA:904
HP:0000722	Compulsive behaviors	2969	GTF2I	ORPHA:904
HP:0000722	Compulsive behaviors	3984	LIMK1	ORPHA:904
HP:0000722	Compulsive behaviors	9569	GTF2IRD1	ORPHA:904
HP:0000722	Compulsive behaviors	155382	VPS37D	ORPHA:904
HP:0000722	Compulsive behaviors	155368	METTL27	ORPHA:904
HP:0000722	Compulsive behaviors	114049	BUD23	ORPHA:904
HP:0000722	Compulsive behaviors	7458	EIF4H	ORPHA:904
HP:0000722	Compulsive behaviors	84163	GTF2IRD2	ORPHA:904
HP:0000722	Compulsive behaviors	9275	BCL7B	ORPHA:904
HP:0000722	Compulsive behaviors	26608	TBL2	ORPHA:904
HP:0000722	Compulsive behaviors	653361	NCF1	ORPHA:904
HP:0000722	Compulsive behaviors	135886	TMEM270	ORPHA:904
HP:0000722	Compulsive behaviors	9031	BAZ1B	ORPHA:904
HP:0000722	Compulsive behaviors	6899	TBX1	ORPHA:1727
HP:0000722	Compulsive behaviors	55343	SLC35C1	OMIM:266265
HP:0000722	Compulsive behaviors	7504	XK	OMIM:300842
HP:0000722	Compulsive behaviors	22871	NLGN1	OMIM:618830
HP:0000722	Compulsive behaviors	6942	TCF20	OMIM:618430
HP:0000722	Compulsive behaviors	2890	GRIA1	OMIM:619927
HP:0000722	Compulsive behaviors	10531	PITRM1	OMIM:619405
HP:0000722	Compulsive behaviors	23162	MAPK8IP3	OMIM:618443
HP:0000722	Compulsive behaviors	27086	FOXP1	OMIM:613670
HP:0000722	Compulsive behaviors	111	ADCY5	OMIM:619651
HP:0000722	Compulsive behaviors	11011	TLK2	OMIM:618050
HP:0000722	Compulsive behaviors	23309	SIN3B	ORPHA:500166
HP:0000722	Compulsive behaviors	25942	SIN3A	ORPHA:500166
HP:0000722	Compulsive behaviors	8295	TRRAP	OMIM:618454
HP:0000722	Compulsive behaviors	7319	UBE2A	ORPHA:163956
HP:0000722	Compulsive behaviors	3720	JARID2	OMIM:620098
HP:0000722	Compulsive behaviors	1203	CLN5	ORPHA:228360
HP:0000722	Compulsive behaviors	57459	GATAD2B	ORPHA:363686
HP:0000722	Compulsive behaviors	6638	SNRPN	ORPHA:177904
HP:0000722	Compulsive behaviors	6638	SNRPN	ORPHA:177901
HP:0000722	Compulsive behaviors	4692	NDN	ORPHA:177904
HP:0000722	Compulsive behaviors	4692	NDN	ORPHA:177901
HP:0000722	Compulsive behaviors	54551	MAGEL2	ORPHA:177904
HP:0000722	Compulsive behaviors	54551	MAGEL2	ORPHA:177901
HP:0000722	Compulsive behaviors	4948	OCA2	ORPHA:177904
HP:0000722	Compulsive behaviors	4948	OCA2	ORPHA:177901
HP:0000722	Compulsive behaviors	2332	FMR1	OMIM:300623
HP:0000722	Compulsive behaviors	7874	USP7	ORPHA:500055
HP:0000722	Compulsive behaviors	55870	ASH1L	OMIM:617796
HP:0000722	Compulsive behaviors	50651	SLC45A1	OMIM:617532
HP:0000722	Compulsive behaviors	8831	SYNGAP1	ORPHA:544254
HP:0000722	Compulsive behaviors	7204	TRIO	OMIM:618825
HP:0000722	Compulsive behaviors	2328	FMO3	ORPHA:468726
HP:0000722	Compulsive behaviors	7532	YWHAG	OMIM:617665
HP:0000722	Compulsive behaviors	1760	DMPK	OMIM:160900
HP:0000722	Compulsive behaviors	6335	SCN9A	ORPHA:33069
HP:0000722	Compulsive behaviors	6335	SCN9A	ORPHA:36387
HP:0000722	Compulsive behaviors	6326	SCN2A	ORPHA:33069
HP:0000722	Compulsive behaviors	6326	SCN2A	ORPHA:36387
HP:0000722	Compulsive behaviors	2554	GABRA1	ORPHA:33069
HP:0000722	Compulsive behaviors	6323	SCN1A	ORPHA:33069
HP:0000722	Compulsive behaviors	6323	SCN1A	ORPHA:36387
HP:0000722	Compulsive behaviors	6324	SCN1B	ORPHA:33069
HP:0000722	Compulsive behaviors	6324	SCN1B	ORPHA:36387
HP:0000722	Compulsive behaviors	57526	PCDH19	ORPHA:33069
HP:0000722	Compulsive behaviors	2566	GABRG2	ORPHA:33069
HP:0000722	Compulsive behaviors	2566	GABRG2	ORPHA:36387
HP:0000722	Compulsive behaviors	51085	MLXIPL	OMIM:194050
HP:0000722	Compulsive behaviors	2006	ELN	OMIM:194050
HP:0000722	Compulsive behaviors	112755	STX1B	ORPHA:36387
HP:0000722	Compulsive behaviors	2563	GABRD	ORPHA:36387
HP:0000722	Compulsive behaviors	348980	HCN1	ORPHA:36387
HP:0000722	Compulsive behaviors	84059	ADGRV1	ORPHA:36387
HP:0000722	Compulsive behaviors	80025	PANK2	OMIM:234200
HP:0000722	Compulsive behaviors	7074	TIAM1	OMIM:619908
HP:0000722	Compulsive behaviors	25978	CHMP2B	ORPHA:275864
HP:0000722	Compulsive behaviors	5663	PSEN1	ORPHA:275864
HP:0000722	Compulsive behaviors	2896	GRN	ORPHA:275864
HP:0000722	Compulsive behaviors	54664	TMEM106B	ORPHA:275864
HP:0000722	Compulsive behaviors	8878	SQSTM1	ORPHA:275864
HP:0000722	Compulsive behaviors	4137	MAPT	ORPHA:275864
HP:0000722	Compulsive behaviors	54209	TREM2	ORPHA:275864
HP:0000722	Compulsive behaviors	7415	VCP	ORPHA:275864
HP:0000722	Compulsive behaviors	6532	SLC6A4	OMIM:164230
HP:0000722	Compulsive behaviors	3356	HTR2A	OMIM:164230
HP:0000722	Compulsive behaviors	22827	PUF60	ORPHA:508488
HP:0000722	Compulsive behaviors	26137	ZBTB20	OMIM:259050
HP:0000722	Compulsive behaviors	284361	EMC10	OMIM:619264
HP:0000722	Compulsive behaviors	57688	ZSWIM6	OMIM:617865
HP:0000722	Compulsive behaviors	51111	KMT5B	OMIM:617788
HP:0000722	Compulsive behaviors	196528	ARID2	OMIM:617808
HP:0000722	Compulsive behaviors	3781	KCNN2	OMIM:619725
HP:0000722	Compulsive behaviors	139411	PTCHD1	OMIM:300830
HP:0000722	Compulsive behaviors	5155	PDGFB	OMIM:615483
HP:0000722	Compulsive behaviors	2782	GNB1	OMIM:616973
HP:0000723	Restrictive behavior	6792	CDKL5	ORPHA:3095
HP:0000723	Restrictive behavior	22854	NTNG1	ORPHA:3095
HP:0000723	Restrictive behavior	9568	GABBR2	ORPHA:3095
HP:0000723	Restrictive behavior	4204	MECP2	ORPHA:3095
HP:0000723	Restrictive behavior	4204	MECP2	OMIM:300496
HP:0000723	Restrictive behavior	8243	SMC1A	ORPHA:3095
HP:0000723	Restrictive behavior	57502	NLGN4X	OMIM:300495
HP:0000723	Restrictive behavior	54413	NLGN3	OMIM:300425
HP:0000723	Restrictive behavior	6638	SNRPN	OMIM:209850
HP:0000723	Restrictive behavior	6711	SPTBN1	OMIM:619475
HP:0000723	Restrictive behavior	25978	CHMP2B	ORPHA:275864
HP:0000723	Restrictive behavior	5663	PSEN1	ORPHA:275864
HP:0000723	Restrictive behavior	2896	GRN	ORPHA:275864
HP:0000723	Restrictive behavior	54664	TMEM106B	ORPHA:275864
HP:0000723	Restrictive behavior	8878	SQSTM1	ORPHA:275864
HP:0000723	Restrictive behavior	4137	MAPT	ORPHA:275864
HP:0000723	Restrictive behavior	54209	TREM2	ORPHA:275864
HP:0000723	Restrictive behavior	7415	VCP	ORPHA:275864
HP:0000725	Psychotic episodes	9056	SLC7A7	OMIM:222700
HP:0000725	Psychotic episodes	84196	USP48	ORPHA:96253
HP:0000725	Psychotic episodes	7157	TP53	ORPHA:96253
HP:0000725	Psychotic episodes	9101	USP8	ORPHA:96253
HP:0000725	Psychotic episodes	64072	CDH23	ORPHA:96253
HP:0000725	Psychotic episodes	2908	NR3C1	ORPHA:96253
HP:0000725	Psychotic episodes	673	BRAF	ORPHA:96253
HP:0000725	Psychotic episodes	546	ATRX	ORPHA:96253
HP:0000725	Psychotic episodes	11315	PARK7	OMIM:606324
HP:0000725	Psychotic episodes	4524	MTHFR	ORPHA:395
HP:0000725	Psychotic episodes	727676	SNORD118	ORPHA:542310
HP:0000725	Psychotic episodes	79798	ARMC5	ORPHA:189427
HP:0000725	Psychotic episodes	2778	GNAS	ORPHA:189427
HP:0000725	Psychotic episodes	5566	PRKACA	ORPHA:189439
HP:0000725	Psychotic episodes	8622	PDE8B	ORPHA:189439
HP:0000725	Psychotic episodes	5573	PRKAR1A	ORPHA:189439
HP:0000725	Psychotic episodes	50940	PDE11A	ORPHA:189439
HP:0000725	Psychotic episodes	162417	NAGS	ORPHA:927
HP:0000725	Psychotic episodes	10531	PITRM1	OMIM:619405
HP:0000725	Psychotic episodes	3145	HMBS	OMIM:176000
HP:0000725	Psychotic episodes	23400	ATP13A2	OMIM:606693
HP:0000727	Frontal lobe dementia	4137	MAPT	OMIM:600274
HP:0000727	Frontal lobe dementia	5663	PSEN1	OMIM:600274
HP:0000727	Frontal lobe dementia	400916	CHCHD10	OMIM:615911
HP:0000727	Frontal lobe dementia	1436	CSF1R	OMIM:221820
HP:0000727	Frontal lobe dementia	2512	FTL	ORPHA:157846
HP:0000727	Frontal lobe dementia	54832	VPS13C	ORPHA:2828
HP:0000727	Frontal lobe dementia	11315	PARK7	ORPHA:2828
HP:0000727	Frontal lobe dementia	7345	UCHL1	ORPHA:2828
HP:0000727	Frontal lobe dementia	27429	HTRA2	ORPHA:2828
HP:0000727	Frontal lobe dementia	120892	LRRK2	ORPHA:2828
HP:0000727	Frontal lobe dementia	9829	DNAJC6	ORPHA:2828
HP:0000727	Frontal lobe dementia	6622	SNCA	ORPHA:2828
HP:0000727	Frontal lobe dementia	5420	PODXL	ORPHA:2828
HP:0000727	Frontal lobe dementia	65018	PINK1	ORPHA:2828
HP:0000727	Frontal lobe dementia	8867	SYNJ1	ORPHA:2828
HP:0000727	Frontal lobe dementia	5071	PRKN	ORPHA:2828
HP:0000727	Frontal lobe dementia	7305	TYROBP	ORPHA:2770
HP:0000727	Frontal lobe dementia	7305	TYROBP	OMIM:221770
HP:0000727	Frontal lobe dementia	54209	TREM2	ORPHA:2770
HP:0000727	Frontal lobe dementia	6908	TBP	OMIM:607136
HP:0000728	Impaired ability to form peer relationships	6638	SNRPN	OMIM:209850
HP:0000729	Autistic behavior	199857	ALG14	OMIM:619031
HP:0000729	Autistic behavior	55217	TMLHE	OMIM:300872
HP:0000729	Autistic behavior	158	ADSL	OMIM:103050
HP:0000729	Autistic behavior	8367	H4C5	OMIM:619950
HP:0000729	Autistic behavior	1139	CHRNA7	ORPHA:199318
HP:0000729	Autistic behavior	5728	PTEN	OMIM:605309
HP:0000729	Autistic behavior	5728	PTEN	ORPHA:201
HP:0000729	Autistic behavior	51126	NAA20	OMIM:619717
HP:0000729	Autistic behavior	7681	MKRN3	OMIM:176270
HP:0000729	Autistic behavior	3653	IPW	OMIM:176270
HP:0000729	Autistic behavior	791114	PWRN1	OMIM:176270
HP:0000729	Autistic behavior	100033413	SNORD116-1	OMIM:176270
HP:0000729	Autistic behavior	145624	PWAR1	OMIM:176270
HP:0000729	Autistic behavior	23742	NPAP1	OMIM:176270
HP:0000729	Autistic behavior	338433	SNORD115-1	OMIM:176270
HP:0000729	Autistic behavior	2593	GAMT	ORPHA:382
HP:0000729	Autistic behavior	27245	AHDC1	ORPHA:412069
HP:0000729	Autistic behavior	2782	GNB1	OMIM:616973
HP:0000729	Autistic behavior	1717	DHCR7	ORPHA:818
HP:0000729	Autistic behavior	1717	DHCR7	OMIM:270400
HP:0000729	Autistic behavior	5053	PAH	ORPHA:79254
HP:0000729	Autistic behavior	55636	CHD7	ORPHA:138
HP:0000729	Autistic behavior	9723	SEMA3E	ORPHA:138
HP:0000729	Autistic behavior	4297	KMT2A	OMIM:605130
HP:0000729	Autistic behavior	4810	NHS	OMIM:302350
HP:0000729	Autistic behavior	5980	REV3L	ORPHA:570
HP:0000729	Autistic behavior	23129	PLXND1	ORPHA:570
HP:0000729	Autistic behavior	79868	ALG13	ORPHA:324422
HP:0000729	Autistic behavior	4128	MAOA	OMIM:300615
HP:0000729	Autistic behavior	24140	FTSJ1	OMIM:309549
HP:0000729	Autistic behavior	201163	FLCN	OMIM:610883
HP:0000729	Autistic behavior	412	STS	ORPHA:281090
HP:0000729	Autistic behavior	412	STS	ORPHA:461
HP:0000729	Autistic behavior	546	ATRX	ORPHA:847
HP:0000729	Autistic behavior	1312	COMT	ORPHA:567
HP:0000729	Autistic behavior	221037	JMJD1C	ORPHA:567
HP:0000729	Autistic behavior	2812	GP1BB	ORPHA:567
HP:0000729	Autistic behavior	6239	RREB1	ORPHA:567
HP:0000729	Autistic behavior	6899	TBX1	ORPHA:567
HP:0000729	Autistic behavior	6899	TBX1	ORPHA:1727
HP:0000729	Autistic behavior	7290	HIRA	ORPHA:567
HP:0000729	Autistic behavior	9632	SEC24C	ORPHA:567
HP:0000729	Autistic behavior	7353	UFD1	ORPHA:567
HP:0000729	Autistic behavior	421	ARVCF	ORPHA:567
HP:0000729	Autistic behavior	10483	SEC23B	ORPHA:201
HP:0000729	Autistic behavior	6390	SDHB	ORPHA:201
HP:0000729	Autistic behavior	6392	SDHD	ORPHA:201
HP:0000729	Autistic behavior	6391	SDHC	ORPHA:201
HP:0000729	Autistic behavior	207	AKT1	ORPHA:201
HP:0000729	Autistic behavior	205717	USF3	ORPHA:201
HP:0000729	Autistic behavior	5290	PIK3CA	ORPHA:201
HP:0000729	Autistic behavior	100144748	KLLN	ORPHA:201
HP:0000729	Autistic behavior	372	ARCN1	OMIM:617164
HP:0000729	Autistic behavior	93627	TBCK	ORPHA:488632
HP:0000729	Autistic behavior	6304	SATB1	OMIM:619229
HP:0000729	Autistic behavior	3737	KCNA2	ORPHA:442835
HP:0000729	Autistic behavior	8120	AP3B2	ORPHA:442835
HP:0000729	Autistic behavior	523	ATP6V1A	ORPHA:442835
HP:0000729	Autistic behavior	10991	SLC38A3	ORPHA:442835
HP:0000729	Autistic behavior	22906	TRAK1	ORPHA:442835
HP:0000729	Autistic behavior	2561	GABRB2	ORPHA:442835
HP:0000729	Autistic behavior	7532	YWHAG	ORPHA:442835
HP:0000729	Autistic behavior	79876	UBA5	ORPHA:442835
HP:0000729	Autistic behavior	6328	SCN3A	ORPHA:442835
HP:0000729	Autistic behavior	2558	GABRA5	ORPHA:442835
HP:0000729	Autistic behavior	2558	GABRA5	OMIM:618559
HP:0000729	Autistic behavior	781	CACNA2D1	ORPHA:442835
HP:0000729	Autistic behavior	2906	GRIN2D	ORPHA:442835
HP:0000729	Autistic behavior	774	CACNA1B	ORPHA:442835
HP:0000729	Autistic behavior	1213	CLTC	ORPHA:442835
HP:0000729	Autistic behavior	51741	WWOX	ORPHA:442835
HP:0000729	Autistic behavior	23334	SZT2	ORPHA:442835
HP:0000729	Autistic behavior	6506	SLC1A2	ORPHA:442835
HP:0000729	Autistic behavior	8867	SYNJ1	ORPHA:442835
HP:0000729	Autistic behavior	477	ATP1A2	ORPHA:442835
HP:0000729	Autistic behavior	3745	KCNB1	ORPHA:442835
HP:0000729	Autistic behavior	284111	SLC13A5	ORPHA:442835
HP:0000729	Autistic behavior	25977	NECAP1	ORPHA:442835
HP:0000729	Autistic behavior	16	AARS1	ORPHA:442835
HP:0000729	Autistic behavior	22866	CNKSR2	ORPHA:442835
HP:0000729	Autistic behavior	55152	DALRD3	ORPHA:442835
HP:0000729	Autistic behavior	26999	CYFIP2	ORPHA:442835
HP:0000729	Autistic behavior	25973	PARS2	ORPHA:442835
HP:0000729	Autistic behavior	23097	CDK19	ORPHA:442835
HP:0000729	Autistic behavior	64801	ARV1	ORPHA:442835
HP:0000729	Autistic behavior	79947	DHDDS	ORPHA:442835
HP:0000729	Autistic behavior	2257	FGF12	ORPHA:442835
HP:0000729	Autistic behavior	5530	PPP3CA	ORPHA:442835
HP:0000729	Autistic behavior	7915	ALDH5A1	OMIM:271980
HP:0000729	Autistic behavior	2628	GATM	OMIM:612718
HP:0000729	Autistic behavior	23476	BRD4	ORPHA:199
HP:0000729	Autistic behavior	9126	SMC3	ORPHA:199
HP:0000729	Autistic behavior	25836	NIPBL	ORPHA:199
HP:0000729	Autistic behavior	55869	HDAC8	ORPHA:199
HP:0000729	Autistic behavior	5885	RAD21	ORPHA:199
HP:0000729	Autistic behavior	1798	DPAGT1	ORPHA:86309
HP:0000729	Autistic behavior	10841	FTCD	ORPHA:51208
HP:0000729	Autistic behavior	3975	LHX1	ORPHA:261265
HP:0000729	Autistic behavior	6928	HNF1B	ORPHA:261265
HP:0000729	Autistic behavior	139411	PTCHD1	OMIM:300830
HP:0000729	Autistic behavior	57680	CHD8	OMIM:615032
HP:0000729	Autistic behavior	1593	CYP27A1	ORPHA:909
HP:0000729	Autistic behavior	6804	STX1A	ORPHA:904
HP:0000729	Autistic behavior	7461	CLIP2	ORPHA:904
HP:0000729	Autistic behavior	84277	DNAJC30	ORPHA:904
HP:0000729	Autistic behavior	8468	FKBP6	ORPHA:904
HP:0000729	Autistic behavior	5982	RFC2	ORPHA:904
HP:0000729	Autistic behavior	2969	GTF2I	ORPHA:904
HP:0000729	Autistic behavior	3984	LIMK1	ORPHA:904
HP:0000729	Autistic behavior	9569	GTF2IRD1	ORPHA:904
HP:0000729	Autistic behavior	155382	VPS37D	ORPHA:904
HP:0000729	Autistic behavior	155368	METTL27	ORPHA:904
HP:0000729	Autistic behavior	114049	BUD23	ORPHA:904
HP:0000729	Autistic behavior	7458	EIF4H	ORPHA:904
HP:0000729	Autistic behavior	84163	GTF2IRD2	ORPHA:904
HP:0000729	Autistic behavior	9275	BCL7B	ORPHA:904
HP:0000729	Autistic behavior	26608	TBL2	ORPHA:904
HP:0000729	Autistic behavior	653361	NCF1	ORPHA:904
HP:0000729	Autistic behavior	135886	TMEM270	ORPHA:904
HP:0000729	Autistic behavior	51085	MLXIPL	ORPHA:904
HP:0000729	Autistic behavior	9031	BAZ1B	ORPHA:904
HP:0000729	Autistic behavior	9968	MED12	OMIM:309520
HP:0000729	Autistic behavior	9968	MED12	OMIM:300895
HP:0000729	Autistic behavior	5590	PRKCZ	ORPHA:1606
HP:0000729	Autistic behavior	8510	MMP23B	ORPHA:1606
HP:0000729	Autistic behavior	7798	LUZP1	ORPHA:1606
HP:0000729	Autistic behavior	6497	SKI	ORPHA:1606
HP:0000729	Autistic behavior	10630	PDPN	ORPHA:1606
HP:0000729	Autistic behavior	3339	HSPG2	ORPHA:1606
HP:0000729	Autistic behavior	10277	UBE4B	ORPHA:1606
HP:0000729	Autistic behavior	8514	KCNAB2	ORPHA:1606
HP:0000729	Autistic behavior	63976	PRDM16	ORPHA:1606
HP:0000729	Autistic behavior	54897	CASZ1	ORPHA:1606
HP:0000729	Autistic behavior	6134	RPL10	ORPHA:459070
HP:0000729	Autistic behavior	23405	DICER1	OMIM:618272
HP:0000729	Autistic behavior	26137	ZBTB20	OMIM:259050
HP:0000729	Autistic behavior	2312	FLG	ORPHA:461
HP:0000729	Autistic behavior	4089	SMAD4	OMIM:139210
HP:0000729	Autistic behavior	4841	NONO	OMIM:300967
HP:0000729	Autistic behavior	4841	NONO	ORPHA:466791
HP:0000729	Autistic behavior	29123	ANKRD11	ORPHA:261250
HP:0000729	Autistic behavior	10743	RAI1	ORPHA:1713
HP:0000729	Autistic behavior	775	CACNA1C	OMIM:601005
HP:0000729	Autistic behavior	210	ALAD	ORPHA:100924
HP:0000729	Autistic behavior	10479	SLC9A6	ORPHA:85278
HP:0000729	Autistic behavior	8242	KDM5C	ORPHA:85279
HP:0000729	Autistic behavior	4781	NFIB	OMIM:618286
HP:0000729	Autistic behavior	4668	NAGA	ORPHA:79281
HP:0000729	Autistic behavior	4668	NAGA	ORPHA:79279
HP:0000729	Autistic behavior	10295	BCKDK	OMIM:614923
HP:0000729	Autistic behavior	85440	DOCK7	OMIM:615859
HP:0000729	Autistic behavior	4693	NDP	ORPHA:649
HP:0000729	Autistic behavior	5573	PRKAR1A	ORPHA:280651
HP:0000729	Autistic behavior	2742	GLRA2	OMIM:301076
HP:0000729	Autistic behavior	11141	IL1RAPL1	OMIM:300143
HP:0000729	Autistic behavior	54413	NLGN3	OMIM:300425
HP:0000729	Autistic behavior	8621	CDK13	OMIM:617360
HP:0000729	Autistic behavior	2702	GJA5	OMIM:612474
HP:0000729	Autistic behavior	2703	GJA8	OMIM:612474
HP:0000729	Autistic behavior	5062	PAK2	OMIM:618458
HP:0000729	Autistic behavior	2260	FGFR1	ORPHA:3157
HP:0000729	Autistic behavior	128674	PROKR2	ORPHA:3157
HP:0000729	Autistic behavior	6657	SOX2	ORPHA:3157
HP:0000729	Autistic behavior	6658	SOX3	ORPHA:3157
HP:0000729	Autistic behavior	9915	ARNT2	ORPHA:3157
HP:0000729	Autistic behavior	8820	HESX1	ORPHA:3157
HP:0000729	Autistic behavior	5015	OTX2	ORPHA:3157
HP:0000729	Autistic behavior	25978	CHMP2B	ORPHA:275864
HP:0000729	Autistic behavior	5663	PSEN1	ORPHA:275864
HP:0000729	Autistic behavior	2896	GRN	ORPHA:275864
HP:0000729	Autistic behavior	54664	TMEM106B	ORPHA:275864
HP:0000729	Autistic behavior	8878	SQSTM1	ORPHA:275864
HP:0000729	Autistic behavior	4137	MAPT	ORPHA:275864
HP:0000729	Autistic behavior	54209	TREM2	ORPHA:275864
HP:0000729	Autistic behavior	7415	VCP	ORPHA:275864
HP:0000729	Autistic behavior	7528	YY1	ORPHA:506358
HP:0000729	Autistic behavior	7528	YY1	OMIM:617557
HP:0000729	Autistic behavior	23394	ADNP	ORPHA:404448
HP:0000729	Autistic behavior	23394	ADNP	OMIM:615873
HP:0000729	Autistic behavior	340533	NEXMIF	OMIM:300912
HP:0000729	Autistic behavior	340533	NEXMIF	ORPHA:1942
HP:0000729	Autistic behavior	340533	NEXMIF	ORPHA:85277
HP:0000729	Autistic behavior	2132	EXT2	OMIM:616682
HP:0000729	Autistic behavior	23135	KDM6B	OMIM:618505
HP:0000729	Autistic behavior	1024	CDK8	OMIM:618748
HP:0000729	Autistic behavior	10054	UBA2	OMIM:619959
HP:0000729	Autistic behavior	6228	RPS23	OMIM:617412
HP:0000729	Autistic behavior	6938	TCF12	OMIM:619718
HP:0000729	Autistic behavior	5361	PLXNA1	OMIM:619955
HP:0000729	Autistic behavior	5457	POU4F1	ORPHA:314647
HP:0000729	Autistic behavior	23261	CAMTA1	ORPHA:314647
HP:0000729	Autistic behavior	55209	SETD5	ORPHA:404440
HP:0000729	Autistic behavior	55209	SETD5	OMIM:615761
HP:0000729	Autistic behavior	3074	HEXB	ORPHA:309162
HP:0000729	Autistic behavior	116931	MED12L	OMIM:618872
HP:0000729	Autistic behavior	387119	CEP85L	OMIM:618873
HP:0000729	Autistic behavior	6729	SRP54	OMIM:618752
HP:0000729	Autistic behavior	6729	SRP54	ORPHA:811
HP:0000729	Autistic behavior	9578	CDC42BPB	OMIM:619841
HP:0000729	Autistic behavior	3020	H3-3A	OMIM:619720
HP:0000729	Autistic behavior	80816	ASXL3	OMIM:615485
HP:0000729	Autistic behavior	80816	ASXL3	ORPHA:352577
HP:0000729	Autistic behavior	7552	ZNF711	OMIM:300803
HP:0000729	Autistic behavior	51111	KMT5B	OMIM:617788
HP:0000729	Autistic behavior	1106	CHD2	OMIM:615369
HP:0000729	Autistic behavior	1106	CHD2	ORPHA:1942
HP:0000729	Autistic behavior	1106	CHD2	ORPHA:2382
HP:0000729	Autistic behavior	8239	USP9X	OMIM:300919
HP:0000729	Autistic behavior	80155	NAA15	OMIM:617787
HP:0000729	Autistic behavior	3781	KCNN2	OMIM:619725
HP:0000729	Autistic behavior	57231	SNX14	ORPHA:397709
HP:0000729	Autistic behavior	57231	SNX14	OMIM:616354
HP:0000729	Autistic behavior	2590	GALNT2	OMIM:618885
HP:0000729	Autistic behavior	284058	KANSL1	ORPHA:363958
HP:0000729	Autistic behavior	284058	KANSL1	ORPHA:363965
HP:0000729	Autistic behavior	55870	ASH1L	OMIM:617796
HP:0000729	Autistic behavior	6844	VAMP2	OMIM:618760
HP:0000729	Autistic behavior	535	ATP6V0A1	OMIM:619970
HP:0000729	Autistic behavior	9692	PRORP	OMIM:619737
HP:0000729	Autistic behavior	816	CAMK2B	OMIM:617799
HP:0000729	Autistic behavior	2770	GNAI1	OMIM:619854
HP:0000729	Autistic behavior	51319	RSRC1	OMIM:618402
HP:0000729	Autistic behavior	1183	CLCN4	ORPHA:485350
HP:0000729	Autistic behavior	1183	CLCN4	OMIM:300114
HP:0000729	Autistic behavior	1009	CDH11	OMIM:619736
HP:0000729	Autistic behavior	6872	TAF1	ORPHA:480907
HP:0000729	Autistic behavior	6872	TAF1	OMIM:300966
HP:0000729	Autistic behavior	54872	PIGG	ORPHA:488635
HP:0000729	Autistic behavior	57178	ZMIZ1	OMIM:618659
HP:0000729	Autistic behavior	2783	GNB2	OMIM:619503
HP:0000729	Autistic behavior	26057	ANKRD17	OMIM:619504
HP:0000729	Autistic behavior	10716	TBR1	ORPHA:1617
HP:0000729	Autistic behavior	1499	CTNNB1	ORPHA:404473
HP:0000729	Autistic behavior	1499	CTNNB1	OMIM:615075
HP:0000729	Autistic behavior	8493	PPM1D	OMIM:617450
HP:0000729	Autistic behavior	26038	CHD5	OMIM:619873
HP:0000729	Autistic behavior	8260	NAA10	OMIM:309800
HP:0000729	Autistic behavior	8260	NAA10	ORPHA:276432
HP:0000729	Autistic behavior	54880	BCOR	OMIM:309800
HP:0000729	Autistic behavior	1182	CLCN3	OMIM:619512
HP:0000729	Autistic behavior	1182	CLCN3	OMIM:619517
HP:0000729	Autistic behavior	29081	METTL5	OMIM:618665
HP:0000729	Autistic behavior	84879	MFSD2A	OMIM:616486
HP:0000729	Autistic behavior	23126	POGZ	OMIM:616364
HP:0000729	Autistic behavior	23126	POGZ	ORPHA:468678
HP:0000729	Autistic behavior	55773	TBC1D23	OMIM:617695
HP:0000729	Autistic behavior	51633	OTUD6B	OMIM:617452
HP:0000729	Autistic behavior	51633	OTUD6B	ORPHA:505237
HP:0000729	Autistic behavior	8363	H4C11	OMIM:619759
HP:0000729	Autistic behavior	9354	UBE4A	OMIM:619639
HP:0000729	Autistic behavior	8659	ALDH4A1	ORPHA:79101
HP:0000729	Autistic behavior	1859	DYRK1A	ORPHA:464311
HP:0000729	Autistic behavior	1859	DYRK1A	ORPHA:268261
HP:0000729	Autistic behavior	8314	BAP1	OMIM:619762
HP:0000729	Autistic behavior	7750	ZMYM2	OMIM:619522
HP:0000729	Autistic behavior	27086	FOXP1	ORPHA:391372
HP:0000729	Autistic behavior	27086	FOXP1	OMIM:613670
HP:0000729	Autistic behavior	57169	ZNFX1	OMIM:619644
HP:0000729	Autistic behavior	53335	BCL11A	OMIM:617101
HP:0000729	Autistic behavior	1742	DLG4	OMIM:618793
HP:0000729	Autistic behavior	4849	CNOT3	OMIM:618672
HP:0000729	Autistic behavior	6942	TCF20	OMIM:618430
HP:0000729	Autistic behavior	200424	TET3	OMIM:618798
HP:0000729	Autistic behavior	2555	GABRA2	OMIM:618557
HP:0000729	Autistic behavior	51341	ZBTB7A	OMIM:619769
HP:0000729	Autistic behavior	9338	TCEAL1	OMIM:301094
HP:0000729	Autistic behavior	23314	SATB2	ORPHA:576283
HP:0000729	Autistic behavior	4208	MEF2C	ORPHA:228384
HP:0000729	Autistic behavior	7030	TFE3	OMIM:301066
HP:0000729	Autistic behavior	23162	MAPK8IP3	OMIM:618443
HP:0000729	Autistic behavior	476	ATP1A1	ORPHA:564178
HP:0000729	Autistic behavior	57479	PRR12	OMIM:619539
HP:0000729	Autistic behavior	7994	KAT6A	OMIM:616268
HP:0000729	Autistic behavior	2006	ELN	ORPHA:90348
HP:0000729	Autistic behavior	10516	FBLN5	ORPHA:90348
HP:0000729	Autistic behavior	5832	ALDH18A1	ORPHA:90348
HP:0000729	Autistic behavior	5832	ALDH18A1	OMIM:616603
HP:0000729	Autistic behavior	1107	CHD3	OMIM:618205
HP:0000729	Autistic behavior	374969	SVBP	OMIM:618569
HP:0000729	Autistic behavior	2055	CLN8	ORPHA:1947
HP:0000729	Autistic behavior	51322	WAC	ORPHA:466950
HP:0000729	Autistic behavior	51322	WAC	ORPHA:284169
HP:0000729	Autistic behavior	6513	SLC2A1	ORPHA:1942
HP:0000729	Autistic behavior	8831	SYNGAP1	ORPHA:1942
HP:0000729	Autistic behavior	8831	SYNGAP1	OMIM:612621
HP:0000729	Autistic behavior	8831	SYNGAP1	ORPHA:544254
HP:0000729	Autistic behavior	1173	AP2M1	ORPHA:1942
HP:0000729	Autistic behavior	1173	AP2M1	OMIM:618587
HP:0000729	Autistic behavior	6323	SCN1A	ORPHA:1942
HP:0000729	Autistic behavior	6323	SCN1A	ORPHA:2382
HP:0000729	Autistic behavior	6323	SCN1A	ORPHA:36387
HP:0000729	Autistic behavior	6323	SCN1A	ORPHA:33069
HP:0000729	Autistic behavior	6529	SLC6A1	ORPHA:1942
HP:0000729	Autistic behavior	6529	SLC6A1	OMIM:616421
HP:0000729	Autistic behavior	25970	SH2B1	ORPHA:261197
HP:0000729	Autistic behavior	25970	SH2B1	ORPHA:261222
HP:0000729	Autistic behavior	1387	CREBBP	OMIM:618332
HP:0000729	Autistic behavior	2033	EP300	OMIM:618333
HP:0000729	Autistic behavior	2033	EP300	OMIM:613684
HP:0000729	Autistic behavior	10533	ATG7	OMIM:619422
HP:0000729	Autistic behavior	8295	TRRAP	OMIM:618454
HP:0000729	Autistic behavior	9742	IFT140	OMIM:266920
HP:0000729	Autistic behavior	26173	INTS1	OMIM:618571
HP:0000729	Autistic behavior	6792	CDKL5	ORPHA:1934
HP:0000729	Autistic behavior	6792	CDKL5	ORPHA:3095
HP:0000729	Autistic behavior	3736	KCNA1	ORPHA:1934
HP:0000729	Autistic behavior	9091	PIGQ	ORPHA:1934
HP:0000729	Autistic behavior	2775	GNAO1	ORPHA:1934
HP:0000729	Autistic behavior	81603	TRIM8	ORPHA:1934
HP:0000729	Autistic behavior	2902	GRIN1	ORPHA:1934
HP:0000729	Autistic behavior	2902	GRIN1	ORPHA:208447
HP:0000729	Autistic behavior	2902	GRIN1	OMIM:617820
HP:0000729	Autistic behavior	79751	SLC25A22	ORPHA:1934
HP:0000729	Autistic behavior	150094	SIK1	ORPHA:1934
HP:0000729	Autistic behavior	8573	CASK	ORPHA:1934
HP:0000729	Autistic behavior	23312	DMXL2	ORPHA:1934
HP:0000729	Autistic behavior	2917	GRM7	ORPHA:1934
HP:0000729	Autistic behavior	170302	ARX	ORPHA:1934
HP:0000729	Autistic behavior	11284	PNKP	ORPHA:1934
HP:0000729	Autistic behavior	6326	SCN2A	ORPHA:1934
HP:0000729	Autistic behavior	6326	SCN2A	ORPHA:36387
HP:0000729	Autistic behavior	6326	SCN2A	ORPHA:33069
HP:0000729	Autistic behavior	51227	PIGP	ORPHA:1934
HP:0000729	Autistic behavior	6324	SCN1B	ORPHA:1934
HP:0000729	Autistic behavior	6324	SCN1B	ORPHA:36387
HP:0000729	Autistic behavior	6324	SCN1B	ORPHA:33069
HP:0000729	Autistic behavior	4761	NEUROD2	ORPHA:1934
HP:0000729	Autistic behavior	1203	CLN5	ORPHA:228360
HP:0000729	Autistic behavior	22827	PUF60	ORPHA:508498
HP:0000729	Autistic behavior	22827	PUF60	ORPHA:508488
HP:0000729	Autistic behavior	57526	PCDH19	ORPHA:101039
HP:0000729	Autistic behavior	57526	PCDH19	OMIM:300088
HP:0000729	Autistic behavior	57526	PCDH19	ORPHA:33069
HP:0000729	Autistic behavior	388015	RTL1	ORPHA:254531
HP:0000729	Autistic behavior	8788	DLK1	ORPHA:254531
HP:0000729	Autistic behavior	55384	MEG3	ORPHA:254531
HP:0000729	Autistic behavior	6492	SIM1	ORPHA:369873
HP:0000729	Autistic behavior	6492	SIM1	ORPHA:171829
HP:0000729	Autistic behavior	6492	SIM1	ORPHA:398079
HP:0000729	Autistic behavior	5898	RALA	OMIM:619311
HP:0000729	Autistic behavior	10466	COG5	ORPHA:263487
HP:0000729	Autistic behavior	6909	TBX2	OMIM:618223
HP:0000729	Autistic behavior	23013	SPEN	OMIM:619312
HP:0000729	Autistic behavior	30000	TNPO2	OMIM:619556
HP:0000729	Autistic behavior	56896	DPYSL5	OMIM:619435
HP:0000729	Autistic behavior	160418	TMTC3	OMIM:617255
HP:0000729	Autistic behavior	123606	NIPA1	ORPHA:261183
HP:0000729	Autistic behavior	7283	TUBG1	ORPHA:261183
HP:0000729	Autistic behavior	81614	NIPA2	ORPHA:261183
HP:0000729	Autistic behavior	57102	C12orf4	OMIM:618221
HP:0000729	Autistic behavior	6650	CAPN15	OMIM:619318
HP:0000729	Autistic behavior	5575	PRKAR1B	OMIM:619680
HP:0000729	Autistic behavior	51412	ACTL6B	OMIM:618470
HP:0000729	Autistic behavior	22854	NTNG1	ORPHA:3095
HP:0000729	Autistic behavior	9568	GABBR2	ORPHA:3095
HP:0000729	Autistic behavior	9568	GABBR2	OMIM:617903
HP:0000729	Autistic behavior	4204	MECP2	ORPHA:3095
HP:0000729	Autistic behavior	4204	MECP2	OMIM:312750
HP:0000729	Autistic behavior	4204	MECP2	OMIM:300055
HP:0000729	Autistic behavior	4204	MECP2	OMIM:300260
HP:0000729	Autistic behavior	8243	SMC1A	ORPHA:3095
HP:0000729	Autistic behavior	8243	SMC1A	OMIM:301044
HP:0000729	Autistic behavior	5515	PPP2CA	OMIM:618354
HP:0000729	Autistic behavior	478	ATP1A3	OMIM:601338
HP:0000729	Autistic behavior	478	ATP1A3	ORPHA:1171
HP:0000729	Autistic behavior	3714	JAG2	OMIM:619566
HP:0000729	Autistic behavior	29998	BICRA	OMIM:619325
HP:0000729	Autistic behavior	6651	SON	OMIM:617140
HP:0000729	Autistic behavior	6651	SON	ORPHA:500150
HP:0000729	Autistic behavior	57520	HECW2	OMIM:617268
HP:0000729	Autistic behavior	10659	CELF2	OMIM:619561
HP:0000729	Autistic behavior	23030	KDM4B	OMIM:619320
HP:0000729	Autistic behavior	1654	DDX3X	ORPHA:457260
HP:0000729	Autistic behavior	7337	UBE3A	ORPHA:98794
HP:0000729	Autistic behavior	4948	OCA2	ORPHA:98794
HP:0000729	Autistic behavior	4948	OCA2	ORPHA:98754
HP:0000729	Autistic behavior	4948	OCA2	ORPHA:177904
HP:0000729	Autistic behavior	4948	OCA2	ORPHA:177901
HP:0000729	Autistic behavior	473	RERE	ORPHA:494344
HP:0000729	Autistic behavior	473	RERE	OMIM:616975
HP:0000729	Autistic behavior	55777	MBD5	OMIM:156200
HP:0000729	Autistic behavior	57551	TAOK1	OMIM:619575
HP:0000729	Autistic behavior	51132	RLIM	OMIM:300978
HP:0000729	Autistic behavior	348980	HCN1	OMIM:618482
HP:0000729	Autistic behavior	348980	HCN1	ORPHA:36387
HP:0000729	Autistic behavior	348980	HCN1	OMIM:615871
HP:0000729	Autistic behavior	23414	ZFPM2	OMIM:616067
HP:0000729	Autistic behavior	7468	NSD2	OMIM:619695
HP:0000729	Autistic behavior	54551	MAGEL2	ORPHA:398069
HP:0000729	Autistic behavior	54551	MAGEL2	ORPHA:98754
HP:0000729	Autistic behavior	54551	MAGEL2	ORPHA:177904
HP:0000729	Autistic behavior	54551	MAGEL2	ORPHA:177901
HP:0000729	Autistic behavior	54551	MAGEL2	OMIM:615547
HP:0000729	Autistic behavior	3376	IARS1	ORPHA:541423
HP:0000729	Autistic behavior	9969	MED13	OMIM:618009
HP:0000729	Autistic behavior	23389	MED13L	ORPHA:369891
HP:0000729	Autistic behavior	2898	GRIK2	OMIM:619580
HP:0000729	Autistic behavior	7703	PCGF2	OMIM:618371
HP:0000729	Autistic behavior	1760	DMPK	ORPHA:589821
HP:0000729	Autistic behavior	164	AP1G1	OMIM:619467
HP:0000729	Autistic behavior	9758	FRMPD4	OMIM:300983
HP:0000729	Autistic behavior	26040	SETBP1	OMIM:616078
HP:0000729	Autistic behavior	3188	HNRNPH2	OMIM:300986
HP:0000729	Autistic behavior	5144	PDE4D	ORPHA:439822
HP:0000729	Autistic behavior	2475	MTOR	ORPHA:457485
HP:0000729	Autistic behavior	23384	SPECC1L	OMIM:145420
HP:0000729	Autistic behavior	57187	THOC2	ORPHA:457240
HP:0000729	Autistic behavior	4763	NF1	ORPHA:97685
HP:0000729	Autistic behavior	84065	TMEM222	OMIM:619470
HP:0000729	Autistic behavior	9757	KMT2B	ORPHA:589618
HP:0000729	Autistic behavior	23322	RPGRIP1L	OMIM:619113
HP:0000729	Autistic behavior	8812	CCNK	OMIM:618147
HP:0000729	Autistic behavior	2892	GRIA3	ORPHA:364028
HP:0000729	Autistic behavior	2892	GRIA3	OMIM:300699
HP:0000729	Autistic behavior	10847	SRCAP	OMIM:619595
HP:0000729	Autistic behavior	94005	PIGS	OMIM:618143
HP:0000729	Autistic behavior	6711	SPTBN1	OMIM:619475
HP:0000729	Autistic behavior	5702	PSMC3	OMIM:619354
HP:0000729	Autistic behavior	8452	CUL3	OMIM:619239
HP:0000729	Autistic behavior	4983	OPHN1	ORPHA:137831
HP:0000729	Autistic behavior	80036	TRPM3	OMIM:620224
HP:0000729	Autistic behavior	526	ATP6V1B2	ORPHA:79500
HP:0000729	Autistic behavior	57465	TBC1D24	ORPHA:79500
HP:0000729	Autistic behavior	11198	SUPT16H	OMIM:619480
HP:0000729	Autistic behavior	7204	TRIO	OMIM:617061
HP:0000729	Autistic behavior	7204	TRIO	ORPHA:476126
HP:0000729	Autistic behavior	8567	MADD	OMIM:619005
HP:0000729	Autistic behavior	23067	SETD1B	OMIM:619000
HP:0000729	Autistic behavior	23112	TNRC6B	OMIM:619243
HP:0000729	Autistic behavior	91875	TTC5	OMIM:619244
HP:0000729	Autistic behavior	79143	MBOAT7	OMIM:617188
HP:0000729	Autistic behavior	288	ANK3	ORPHA:356996
HP:0000729	Autistic behavior	23096	IQSEC2	OMIM:309530
HP:0000729	Autistic behavior	118924	FRA10AC1	OMIM:620113
HP:0000729	Autistic behavior	5625	PRODH	OMIM:239500
HP:0000729	Autistic behavior	9759	HDAC4	OMIM:600430
HP:0000729	Autistic behavior	5528	PPP2R5D	ORPHA:457279
HP:0000729	Autistic behavior	1984	EIF5A	OMIM:619376
HP:0000729	Autistic behavior	89970	RSPRY1	ORPHA:457395
HP:0000729	Autistic behavior	89970	RSPRY1	OMIM:616723
HP:0000729	Autistic behavior	10079	ATP9A	OMIM:620242
HP:0000729	Autistic behavior	11011	TLK2	OMIM:618050
HP:0000729	Autistic behavior	27161	AGO2	OMIM:619149
HP:0000729	Autistic behavior	1496	CTNNA2	OMIM:618174
HP:0000729	Autistic behavior	221692	PHACTR1	OMIM:618298
HP:0000729	Autistic behavior	23443	SLC35A3	ORPHA:370943
HP:0000729	Autistic behavior	23443	SLC35A3	OMIM:615553
HP:0000729	Autistic behavior	6095	RORA	OMIM:618060
HP:0000729	Autistic behavior	128	ADH5	OMIM:619151
HP:0000729	Autistic behavior	26960	NBEA	OMIM:619157
HP:0000729	Autistic behavior	23241	PACS2	OMIM:618067
HP:0000729	Autistic behavior	84282	RNF135	ORPHA:137634
HP:0000729	Autistic behavior	10274	STAG1	ORPHA:502434
HP:0000729	Autistic behavior	10274	STAG1	OMIM:617635
HP:0000729	Autistic behavior	1119	CHKA	OMIM:620023
HP:0000729	Autistic behavior	51343	FZR1	OMIM:620145
HP:0000729	Autistic behavior	132158	GLYCTK	ORPHA:941
HP:0000729	Autistic behavior	118987	PDZD8	OMIM:620021
HP:0000729	Autistic behavior	64324	NSD1	ORPHA:821
HP:0000729	Autistic behavior	29072	SETD2	ORPHA:821
HP:0000729	Autistic behavior	29072	SETD2	OMIM:616831
HP:0000729	Autistic behavior	10297	APC2	ORPHA:821
HP:0000729	Autistic behavior	80232	WDR26	ORPHA:513456
HP:0000729	Autistic behavior	6535	SLC6A8	ORPHA:52503
HP:0000729	Autistic behavior	134218	DNAJC21	ORPHA:811
HP:0000729	Autistic behavior	79631	EFL1	ORPHA:811
HP:0000729	Autistic behavior	51119	SBDS	ORPHA:811
HP:0000729	Autistic behavior	6595	SMARCA2	OMIM:619293
HP:0000729	Autistic behavior	84992	PIGY	ORPHA:247262
HP:0000729	Autistic behavior	84720	PIGO	ORPHA:247262
HP:0000729	Autistic behavior	93210	PGAP3	ORPHA:247262
HP:0000729	Autistic behavior	284098	PIGW	ORPHA:247262
HP:0000729	Autistic behavior	27315	PGAP2	ORPHA:247262
HP:0000729	Autistic behavior	55650	PIGV	ORPHA:247262
HP:0000729	Autistic behavior	9487	PIGL	ORPHA:247262
HP:0000729	Autistic behavior	57492	ARID1B	OMIM:135900
HP:0000729	Autistic behavior	57492	ARID1B	ORPHA:1465
HP:0000729	Autistic behavior	3899	AFF3	OMIM:619297
HP:0000729	Autistic behavior	9739	SETD1A	OMIM:619056
HP:0000729	Autistic behavior	93986	FOXP2	ORPHA:209908
HP:0000729	Autistic behavior	23732	FRRS1L	ORPHA:725
HP:0000729	Autistic behavior	2903	GRIN2A	ORPHA:725
HP:0000729	Autistic behavior	2903	GRIN2A	ORPHA:98818
HP:0000729	Autistic behavior	2903	GRIN2A	OMIM:245570
HP:0000729	Autistic behavior	114034	TOE1	OMIM:614969
HP:0000729	Autistic behavior	8398	PLA2G6	ORPHA:35069
HP:0000729	Autistic behavior	8131	NPRL3	ORPHA:98820
HP:0000729	Autistic behavior	10641	NPRL2	ORPHA:98820
HP:0000729	Autistic behavior	9681	DEPDC5	ORPHA:98820
HP:0000729	Autistic behavior	9681	DEPDC5	OMIM:604364
HP:0000729	Autistic behavior	23116	TOGARAM1	OMIM:619185
HP:0000729	Autistic behavior	64919	BCL11B	OMIM:618092
HP:0000729	Autistic behavior	1759	DNM1	ORPHA:2382
HP:0000729	Autistic behavior	2562	GABRB3	ORPHA:2382
HP:0000729	Autistic behavior	5602	MAPK10	ORPHA:2382
HP:0000729	Autistic behavior	773	CACNA1A	ORPHA:2382
HP:0000729	Autistic behavior	23316	CUX2	ORPHA:2382
HP:0000729	Autistic behavior	4212	MEIS2	OMIM:600987
HP:0000729	Autistic behavior	26053	AUTS2	ORPHA:352490
HP:0000729	Autistic behavior	26053	AUTS2	OMIM:615834
HP:0000729	Autistic behavior	23036	ZNF292	OMIM:619188
HP:0000729	Autistic behavior	1641	DCX	ORPHA:2148
HP:0000729	Autistic behavior	4915	NTRK2	OMIM:613886
HP:0000729	Autistic behavior	25942	SIN3A	OMIM:613406
HP:0000729	Autistic behavior	25942	SIN3A	ORPHA:500166
HP:0000729	Autistic behavior	55154	MSTO1	ORPHA:502423
HP:0000729	Autistic behavior	6335	SCN9A	ORPHA:36387
HP:0000729	Autistic behavior	6335	SCN9A	ORPHA:33069
HP:0000729	Autistic behavior	112755	STX1B	ORPHA:36387
HP:0000729	Autistic behavior	2563	GABRD	ORPHA:36387
HP:0000729	Autistic behavior	84059	ADGRV1	ORPHA:36387
HP:0000729	Autistic behavior	2566	GABRG2	ORPHA:36387
HP:0000729	Autistic behavior	2566	GABRG2	ORPHA:33069
HP:0000729	Autistic behavior	7840	ALMS1	ORPHA:64
HP:0000729	Autistic behavior	7025	NR2F1	ORPHA:401777
HP:0000729	Autistic behavior	65109	UPF3B	OMIM:300676
HP:0000729	Autistic behavior	8905	AP1S2	ORPHA:85335
HP:0000729	Autistic behavior	22859	ADGRL1	OMIM:620065
HP:0000729	Autistic behavior	55719	SLF2	OMIM:620184
HP:0000729	Autistic behavior	55343	SLC35C1	OMIM:266265
HP:0000729	Autistic behavior	55343	SLC35C1	ORPHA:99843
HP:0000729	Autistic behavior	6558	SLC12A2	OMIM:619083
HP:0000729	Autistic behavior	57459	GATAD2B	ORPHA:363686
HP:0000729	Autistic behavior	79813	EHMT1	ORPHA:261652
HP:0000729	Autistic behavior	58508	KMT2C	ORPHA:261652
HP:0000729	Autistic behavior	58508	KMT2C	OMIM:617768
HP:0000729	Autistic behavior	4784	NFIX	OMIM:614753
HP:0000729	Autistic behavior	6638	SNRPN	ORPHA:98754
HP:0000729	Autistic behavior	6638	SNRPN	ORPHA:177904
HP:0000729	Autistic behavior	6638	SNRPN	ORPHA:177901
HP:0000729	Autistic behavior	4692	NDN	ORPHA:98754
HP:0000729	Autistic behavior	4692	NDN	ORPHA:177904
HP:0000729	Autistic behavior	4692	NDN	ORPHA:177901
HP:0000729	Autistic behavior	1013	CDH15	OMIM:612580
HP:0000729	Autistic behavior	26047	CNTNAP2	OMIM:610042
HP:0000729	Autistic behavior	10735	STAG2	ORPHA:521258
HP:0000729	Autistic behavior	3458	IFNG	ORPHA:805
HP:0000729	Autistic behavior	7248	TSC1	ORPHA:805
HP:0000729	Autistic behavior	7249	TSC2	ORPHA:805
HP:0000729	Autistic behavior	79718	TBL1XR1	OMIM:616944
HP:0000729	Autistic behavior	81846	SBF2	ORPHA:99956
HP:0000729	Autistic behavior	2776	GNAQ	ORPHA:3205
HP:0000729	Autistic behavior	92154	MTSS2	OMIM:620086
HP:0000729	Autistic behavior	7466	WFS1	ORPHA:411590
HP:0000729	Autistic behavior	55690	PACS1	ORPHA:329224
HP:0000729	Autistic behavior	22907	DHX30	OMIM:617804
HP:0000729	Autistic behavior	10664	CTCF	OMIM:615502
HP:0000729	Autistic behavior	10664	CTCF	ORPHA:363611
HP:0000729	Autistic behavior	3720	JARID2	OMIM:620098
HP:0000729	Autistic behavior	11133	KPTN	OMIM:615637
HP:0000729	Autistic behavior	11133	KPTN	ORPHA:397612
HP:0000729	Autistic behavior	8924	HERC2	OMIM:615516
HP:0000729	Autistic behavior	22845	DOLK	ORPHA:91131
HP:0000729	Autistic behavior	26115	TANC2	OMIM:618906
HP:0000729	Autistic behavior	55593	OTUD5	OMIM:301056
HP:0000729	Autistic behavior	2258	FGF13	OMIM:301058
HP:0000729	Autistic behavior	2334	AFF2	ORPHA:100973
HP:0000729	Autistic behavior	79587	CARS2	ORPHA:477774
HP:0000729	Autistic behavior	23291	FBXW11	OMIM:618914
HP:0000729	Autistic behavior	55784	MCTP2	ORPHA:1596
HP:0000729	Autistic behavior	6334	SCN8A	OMIM:614558
HP:0000729	Autistic behavior	3097	HIVEP2	OMIM:616977
HP:0000729	Autistic behavior	2891	GRIA2	OMIM:618917
HP:0000729	Autistic behavior	4131	MAP1B	OMIM:618918
HP:0000729	Autistic behavior	2592	GALT	ORPHA:79239
HP:0000729	Autistic behavior	2332	FMR1	ORPHA:449291
HP:0000729	Autistic behavior	63035	BCORL1	OMIM:301029
HP:0000729	Autistic behavior	85358	SHANK3	ORPHA:48652
HP:0000729	Autistic behavior	11253	MAN1B1	OMIM:614202
HP:0000729	Autistic behavior	116150	NUS1	OMIM:617831
HP:0000729	Autistic behavior	7874	USP7	OMIM:616863
HP:0000729	Autistic behavior	7874	USP7	ORPHA:500055
HP:0000729	Autistic behavior	6597	SMARCA4	ORPHA:1465
HP:0000729	Autistic behavior	6598	SMARCB1	ORPHA:1465
HP:0000729	Autistic behavior	6659	SOX4	ORPHA:1465
HP:0000729	Autistic behavior	8289	ARID1A	ORPHA:1465
HP:0000729	Autistic behavior	5977	DPF2	ORPHA:1465
HP:0000729	Autistic behavior	6601	SMARCC2	ORPHA:1465
HP:0000729	Autistic behavior	6602	SMARCD1	ORPHA:1465
HP:0000729	Autistic behavior	196528	ARID2	ORPHA:1465
HP:0000729	Autistic behavior	6605	SMARCE1	ORPHA:1465
HP:0000729	Autistic behavior	6664	SOX11	ORPHA:1465
HP:0000729	Autistic behavior	79583	TMEM231	ORPHA:2318
HP:0000729	Autistic behavior	51524	TMEM138	ORPHA:2318
HP:0000729	Autistic behavior	23090	ZNF423	ORPHA:2318
HP:0000729	Autistic behavior	80184	CEP290	ORPHA:2318
HP:0000729	Autistic behavior	51259	TMEM216	ORPHA:2318
HP:0000729	Autistic behavior	57545	CC2D2A	ORPHA:2318
HP:0000729	Autistic behavior	65062	TMEM237	ORPHA:2318
HP:0000729	Autistic behavior	1000	CDH2	OMIM:618929
HP:0000729	Autistic behavior	5422	POLA1	OMIM:301030
HP:0000729	Autistic behavior	1105	CHD1	ORPHA:529965
HP:0000729	Autistic behavior	23152	CIC	OMIM:617600
HP:0000729	Autistic behavior	7074	TIAM1	OMIM:619908
HP:0000729	Autistic behavior	116442	RAB39B	OMIM:300271
HP:0000729	Autistic behavior	58494	JAM2	OMIM:618824
HP:0000729	Autistic behavior	3747	KCNC2	OMIM:619913
HP:0000729	Autistic behavior	79853	TM4SF20	OMIM:615432
HP:0000729	Autistic behavior	23040	MYT1L	OMIM:616521
HP:0000729	Autistic behavior	490	ATP2B1	OMIM:619910
HP:0000729	Autistic behavior	1917	EEF1A2	OMIM:616409
HP:0000729	Autistic behavior	2554	GABRA1	ORPHA:33069
HP:0000729	Autistic behavior	6925	TCF4	ORPHA:2896
HP:0000729	Autistic behavior	28514	DLL1	OMIM:618709
HP:0000729	Autistic behavior	7343	UBTF	ORPHA:500180
HP:0000729	Autistic behavior	63932	STEEP1	OMIM:301013
HP:0000729	Autistic behavior	6857	SYT1	ORPHA:522077
HP:0000729	Autistic behavior	22871	NLGN1	OMIM:618830
HP:0000729	Autistic behavior	10585	POMT1	ORPHA:86812
HP:0000729	Autistic behavior	9918	NCAPD2	OMIM:617983
HP:0000729	Autistic behavior	54870	QRICH1	OMIM:617982
HP:0000729	Autistic behavior	57688	ZSWIM6	OMIM:617865
HP:0000729	Autistic behavior	1806	DPYD	ORPHA:1675
HP:0000729	Autistic behavior	1806	DPYD	ORPHA:293948
HP:0000729	Autistic behavior	2890	GRIA1	OMIM:619927
HP:0000729	Autistic behavior	10522	DEAF1	ORPHA:468620
HP:0000729	Autistic behavior	84628	NTNG2	OMIM:618718
HP:0000729	Autistic behavior	6853	SYN1	OMIM:300491
HP:0000729	Autistic behavior	57502	NLGN4X	OMIM:300495
HP:0000729	Autistic behavior	4047	LSS	OMIM:618840
HP:0000729	Autistic behavior	9320	TRIP12	OMIM:617752
HP:0000729	Autistic behavior	5879	RAC1	OMIM:617751
HP:0000729	Autistic behavior	51780	KDM3B	OMIM:618846
HP:0000729	Autistic behavior	51317	PHF21A	OMIM:618725
HP:0000729	Autistic behavior	5455	POU3F3	OMIM:618604
HP:0000729	Autistic behavior	5718	PSMD12	OMIM:617516
HP:0000729	Autistic behavior	5430	POLR2A	OMIM:618603
HP:0000729	Autistic behavior	2182	ACSL4	OMIM:300387
HP:0000729	Autistic behavior	9699	RIMS2	OMIM:618970
HP:0000729	Autistic behavior	23309	SIN3B	ORPHA:500166
HP:0000729	Autistic behavior	23102	TBC1D2B	ORPHA:397973
HP:0000729	Autistic behavior	55553	SOX6	OMIM:618971
HP:0000729	Autistic behavior	7545	ZIC1	OMIM:618736
HP:0000729	Autistic behavior	4281	MID1	ORPHA:2745
HP:0000729	Autistic behavior	4858	NOVA2	OMIM:618859
HP:0000729	Autistic behavior	6736	SRY	ORPHA:1772
HP:0000729	Autistic behavior	84148	KAT8	OMIM:618974
HP:0000729	Autistic behavior	58499	ZNF462	OMIM:618619
HP:0000729	Autistic behavior	83480	PUS3	OMIM:617051
HP:0000729	Autistic behavior	10771	ZMYND11	OMIM:616083
HP:0000729	Autistic behavior	84894	LINGO1	OMIM:618103
HP:0000729	Autistic behavior	54902	TTC19	OMIM:615157
HP:0000729	Autistic behavior	2290	FOXG1	OMIM:613454
HP:0000729	Autistic behavior	440138	ALG11	ORPHA:280071
HP:0000729	Autistic behavior	8925	HERC1	ORPHA:457359
HP:0000729	Autistic behavior	4123	MAN2C1	OMIM:619775
HP:0000729	Autistic behavior	5119	CHMP1A	OMIM:614961
HP:0000729	Autistic behavior	10352	WARS2	OMIM:619738
HP:0000729	Autistic behavior	10381	TUBB3	ORPHA:300570
HP:0000729	Autistic behavior	54832	VPS13C	ORPHA:2828
HP:0000729	Autistic behavior	11315	PARK7	ORPHA:2828
HP:0000729	Autistic behavior	7345	UCHL1	ORPHA:2828
HP:0000729	Autistic behavior	27429	HTRA2	ORPHA:2828
HP:0000729	Autistic behavior	120892	LRRK2	ORPHA:2828
HP:0000729	Autistic behavior	9829	DNAJC6	ORPHA:2828
HP:0000729	Autistic behavior	6622	SNCA	ORPHA:2828
HP:0000729	Autistic behavior	5420	PODXL	ORPHA:2828
HP:0000729	Autistic behavior	65018	PINK1	ORPHA:2828
HP:0000729	Autistic behavior	5071	PRKN	ORPHA:2828
HP:0000729	Autistic behavior	2137	EXTL3	ORPHA:508533
HP:0000729	Autistic behavior	51	ACOX1	OMIM:264470
HP:0000729	Autistic behavior	84340	GFM2	ORPHA:565624
HP:0010940	Aplasia/Hypoplasia of the nasal bone	5573	PRKAR1A	ORPHA:280651
HP:0010940	Aplasia/Hypoplasia of the nasal bone	5144	PDE4D	ORPHA:280651
HP:0010940	Aplasia/Hypoplasia of the nasal bone	124590	USH1G	OMIM:606943
HP:0010940	Aplasia/Hypoplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0010940	Aplasia/Hypoplasia of the nasal bone	29957	SLC25A24	ORPHA:2095
HP:0010940	Aplasia/Hypoplasia of the nasal bone	4659	PPP1R12A	OMIM:618820
HP:0010940	Aplasia/Hypoplasia of the nasal bone	5159	PDGFRB	OMIM:601812
HP:0010940	Aplasia/Hypoplasia of the nasal bone	6496	SIX3	OMIM:157170
HP:0010940	Aplasia/Hypoplasia of the nasal bone	60529	ALX4	OMIM:613451
HP:0010942	Echogenic intracardiac focus	5879	RAC1	OMIM:617751
HP:0010943	Echogenic fetal bowel	3930	LBR	OMIM:215140
HP:0010943	Echogenic fetal bowel	2783	GNB2	OMIM:619503
HP:0010943	Echogenic fetal bowel	374879	ZNF699	OMIM:619488
HP:0010943	Echogenic fetal bowel	8085	KMT2D	OMIM:620186
HP:0010943	Echogenic fetal bowel	84992	PIGY	OMIM:616809
HP:0010944	Abnormal renal pelvis morphology	6095	RORA	OMIM:618060
HP:0010944	Abnormal renal pelvis morphology	7528	YY1	ORPHA:506358
HP:0010944	Abnormal renal pelvis morphology	7528	YY1	OMIM:617557
HP:0010944	Abnormal renal pelvis morphology	3376	IARS1	OMIM:617093
HP:0010944	Abnormal renal pelvis morphology	3376	IARS1	ORPHA:541423
HP:0010944	Abnormal renal pelvis morphology	9860	LRIG2	OMIM:615112
HP:0010944	Abnormal renal pelvis morphology	9860	LRIG2	ORPHA:2704
HP:0010944	Abnormal renal pelvis morphology	5339	PLEC	ORPHA:158684
HP:0010944	Abnormal renal pelvis morphology	3691	ITGB4	ORPHA:158684
HP:0010944	Abnormal renal pelvis morphology	3691	ITGB4	ORPHA:79403
HP:0010944	Abnormal renal pelvis morphology	8425	LTBP4	OMIM:613177
HP:0010944	Abnormal renal pelvis morphology	1161	ERCC8	ORPHA:90324
HP:0010944	Abnormal renal pelvis morphology	2074	ERCC6	ORPHA:90324
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	ORPHA:2059
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	OMIM:614080
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	ORPHA:280633
HP:0010944	Abnormal renal pelvis morphology	673	BRAF	OMIM:115150
HP:0010944	Abnormal renal pelvis morphology	673	BRAF	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	8195	MKKS	OMIM:236700
HP:0010944	Abnormal renal pelvis morphology	8195	MKKS	ORPHA:2473
HP:0010944	Abnormal renal pelvis morphology	81857	MED25	OMIM:616449
HP:0010944	Abnormal renal pelvis morphology	81857	MED25	ORPHA:464738
HP:0010944	Abnormal renal pelvis morphology	145173	B3GLCT	ORPHA:709
HP:0010944	Abnormal renal pelvis morphology	145173	B3GLCT	OMIM:261540
HP:0010944	Abnormal renal pelvis morphology	4774	NFIA	OMIM:613735
HP:0010944	Abnormal renal pelvis morphology	538	ATP7A	OMIM:304150
HP:0010944	Abnormal renal pelvis morphology	64220	STRA6	OMIM:601186
HP:0010944	Abnormal renal pelvis morphology	126792	B3GALT6	OMIM:609465
HP:0010944	Abnormal renal pelvis morphology	1131	CHRM3	OMIM:100100
HP:0010944	Abnormal renal pelvis morphology	64324	NSD1	ORPHA:821
HP:0010944	Abnormal renal pelvis morphology	29072	SETD2	ORPHA:821
HP:0010944	Abnormal renal pelvis morphology	10297	APC2	ORPHA:821
HP:0010944	Abnormal renal pelvis morphology	10093	ARPC4	OMIM:620141
HP:0010944	Abnormal renal pelvis morphology	3655	ITGA6	ORPHA:79403
HP:0010944	Abnormal renal pelvis morphology	3909	LAMA3	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	3918	LAMC2	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	3914	LAMB3	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	6662	SOX9	ORPHA:140
HP:0010944	Abnormal renal pelvis morphology	6662	SOX9	OMIM:114290
HP:0010944	Abnormal renal pelvis morphology	197131	UBR1	OMIM:243800
HP:0010944	Abnormal renal pelvis morphology	197131	UBR1	ORPHA:2315
HP:0010944	Abnormal renal pelvis morphology	55112	DYNC2I1	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	57560	IFT80	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	57539	WDR35	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	79659	DYNC2H1	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	89891	DYNC2I2	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	2782	GNB1	ORPHA:488613
HP:0010944	Abnormal renal pelvis morphology	2782	GNB1	OMIM:616973
HP:0010944	Abnormal renal pelvis morphology	1717	DHCR7	ORPHA:818
HP:0010944	Abnormal renal pelvis morphology	1717	DHCR7	OMIM:270400
HP:0010944	Abnormal renal pelvis morphology	9915	ARNT2	OMIM:615926
HP:0010944	Abnormal renal pelvis morphology	55636	CHD7	ORPHA:138
HP:0010944	Abnormal renal pelvis morphology	55636	CHD7	OMIM:214800
HP:0010944	Abnormal renal pelvis morphology	9723	SEMA3E	ORPHA:138
HP:0010944	Abnormal renal pelvis morphology	9382	COG1	OMIM:611209
HP:0010944	Abnormal renal pelvis morphology	5189	PEX1	OMIM:214100
HP:0010944	Abnormal renal pelvis morphology	5189	PEX1	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	ORPHA:93260
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	OMIM:101200
HP:0010944	Abnormal renal pelvis morphology	84992	PIGY	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	84720	PIGO	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	93210	PGAP3	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	284098	PIGW	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	27315	PGAP2	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	55650	PIGV	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	ORPHA:3474
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	OMIM:280000
HP:0010944	Abnormal renal pelvis morphology	4001	LMNB1	OMIM:619179
HP:0010944	Abnormal renal pelvis morphology	51360	MBTPS2	ORPHA:2273
HP:0010944	Abnormal renal pelvis morphology	57492	ARID1B	OMIM:135900
HP:0010944	Abnormal renal pelvis morphology	1136	CHRNA3	OMIM:191800
HP:0010944	Abnormal renal pelvis morphology	113189	CHST14	ORPHA:2953
HP:0010944	Abnormal renal pelvis morphology	113189	CHST14	OMIM:601776
HP:0010944	Abnormal renal pelvis morphology	29940	DSE	ORPHA:2953
HP:0010944	Abnormal renal pelvis morphology	50814	NSDHL	OMIM:308050
HP:0010944	Abnormal renal pelvis morphology	23522	KAT6B	OMIM:606170
HP:0010944	Abnormal renal pelvis morphology	23522	KAT6B	ORPHA:85201
HP:0010944	Abnormal renal pelvis morphology	815	CAMK2A	OMIM:617798
HP:0010944	Abnormal renal pelvis morphology	92579	G6PC3	OMIM:612541
HP:0010944	Abnormal renal pelvis morphology	7994	KAT6A	ORPHA:457193
HP:0010944	Abnormal renal pelvis morphology	7994	KAT6A	OMIM:616268
HP:0010944	Abnormal renal pelvis morphology	64359	NXN	ORPHA:1507
HP:0010944	Abnormal renal pelvis morphology	4920	ROR2	ORPHA:1507
HP:0010944	Abnormal renal pelvis morphology	4920	ROR2	OMIM:268310
HP:0010944	Abnormal renal pelvis morphology	546	ATRX	ORPHA:847
HP:0010944	Abnormal renal pelvis morphology	546	ATRX	OMIM:301040
HP:0010944	Abnormal renal pelvis morphology	23116	TOGARAM1	OMIM:619185
HP:0010944	Abnormal renal pelvis morphology	6899	TBX1	OMIM:188400
HP:0010944	Abnormal renal pelvis morphology	6899	TBX1	ORPHA:1727
HP:0010944	Abnormal renal pelvis morphology	7466	WFS1	OMIM:222300
HP:0010944	Abnormal renal pelvis morphology	4763	NF1	ORPHA:363700
HP:0010944	Abnormal renal pelvis morphology	1656	DDX6	OMIM:618653
HP:0010944	Abnormal renal pelvis morphology	10682	EBP	ORPHA:35173
HP:0010944	Abnormal renal pelvis morphology	10682	EBP	OMIM:302960
HP:0010944	Abnormal renal pelvis morphology	60495	HPSE2	ORPHA:2704
HP:0010944	Abnormal renal pelvis morphology	60495	HPSE2	OMIM:236730
HP:0010944	Abnormal renal pelvis morphology	7020	TFAP2A	ORPHA:1297
HP:0010944	Abnormal renal pelvis morphology	9096	TBX18	OMIM:143400
HP:0010944	Abnormal renal pelvis morphology	26040	SETBP1	OMIM:269150
HP:0010944	Abnormal renal pelvis morphology	26040	SETBP1	ORPHA:798
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:90652
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:2484
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:304120
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:1826
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:309350
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:305620
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:300048
HP:0010944	Abnormal renal pelvis morphology	8241	RBM10	OMIM:311900
HP:0010944	Abnormal renal pelvis morphology	8241	RBM10	ORPHA:2886
HP:0010944	Abnormal renal pelvis morphology	5337	PLD1	OMIM:212093
HP:0010944	Abnormal renal pelvis morphology	3981	LIG4	ORPHA:235
HP:0010944	Abnormal renal pelvis morphology	54888	NSUN2	ORPHA:235
HP:0010944	Abnormal renal pelvis morphology	54914	FOCAD	OMIM:619991
HP:0010944	Abnormal renal pelvis morphology	7498	XDH	OMIM:278300
HP:0010944	Abnormal renal pelvis morphology	8239	USP9X	ORPHA:480880
HP:0010944	Abnormal renal pelvis morphology	8239	USP9X	OMIM:300968
HP:0010944	Abnormal renal pelvis morphology	5590	PRKCZ	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	2563	GABRD	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	23013	SPEN	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	8510	MMP23B	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	7798	LUZP1	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	6497	SKI	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	10630	PDPN	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	3339	HSPG2	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	10277	UBE4B	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	8514	KCNAB2	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	473	RERE	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	63976	PRDM16	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	54897	CASZ1	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	1493	CTLA4	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	26191	PTPN22	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	3115	HLA-DPB1	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	5657	PRTN3	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	3113	HLA-DPA1	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	2138	EYA1	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	147912	SIX5	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	6495	SIX1	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	79796	ALG9	ORPHA:79328
HP:0010944	Abnormal renal pelvis morphology	2187	FANCB	OMIM:314390
HP:0010944	Abnormal renal pelvis morphology	7547	ZIC3	OMIM:314390
HP:0010944	Abnormal renal pelvis morphology	8314	BAP1	OMIM:619762
HP:0010944	Abnormal renal pelvis morphology	7750	ZMYM2	OMIM:619522
HP:0010944	Abnormal renal pelvis morphology	11041	B4GAT1	OMIM:615287
HP:0010944	Abnormal renal pelvis morphology	2261	FGFR3	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	2255	FGF10	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	79971	WLS	OMIM:619648
HP:0010944	Abnormal renal pelvis morphology	2065	ERBB3	OMIM:607598
HP:0010944	Abnormal renal pelvis morphology	11128	POLR3A	ORPHA:3455
HP:0010944	Abnormal renal pelvis morphology	9968	MED12	OMIM:301068
HP:0010944	Abnormal renal pelvis morphology	2625	GATA3	ORPHA:2237
HP:0010944	Abnormal renal pelvis morphology	64321	SOX17	OMIM:613674
HP:0010944	Abnormal renal pelvis morphology	50628	GEMIN4	OMIM:617913
HP:0010944	Abnormal renal pelvis morphology	6885	MAP3K7	ORPHA:1826
HP:0010944	Abnormal renal pelvis morphology	147372	CCBE1	OMIM:235510
HP:0010944	Abnormal renal pelvis morphology	8295	TRRAP	OMIM:618454
HP:0010944	Abnormal renal pelvis morphology	9851	KIAA0753	OMIM:617127
HP:0010944	Abnormal renal pelvis morphology	5081	PAX7	OMIM:618578
HP:0010944	Abnormal renal pelvis morphology	166379	BBS12	OMIM:615989
HP:0010944	Abnormal renal pelvis morphology	1642	DDB1	OMIM:619426
HP:0010944	Abnormal renal pelvis morphology	63895	PIEZO2	ORPHA:2461
HP:0010944	Abnormal renal pelvis morphology	55670	PEX26	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5824	PEX19	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5828	PEX2	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	8504	PEX3	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	8799	PEX11B	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	9409	PEX16	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5190	PEX6	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5830	PEX5	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5193	PEX12	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5194	PEX13	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5195	PEX14	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5192	PEX10	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	6654	SOS1	OMIM:610733
HP:0010944	Abnormal renal pelvis morphology	80000	GREB1L	OMIM:617805
HP:0010944	Abnormal renal pelvis morphology	91949	COG7	OMIM:608779
HP:0010944	Abnormal renal pelvis morphology	9759	HDAC4	OMIM:619797
HP:0010944	Abnormal renal pelvis morphology	54892	NCAPG2	OMIM:618460
HP:0010944	Abnormal renal pelvis morphology	72	ACTG2	OMIM:619431
HP:0010944	Abnormal renal pelvis morphology	72	ACTG2	OMIM:155310
HP:0010944	Abnormal renal pelvis morphology	4683	NBN	OMIM:251260
HP:0010944	Abnormal renal pelvis morphology	11020	IFT27	OMIM:615996
HP:0010944	Abnormal renal pelvis morphology	5648	MASP1	OMIM:257920
HP:0010944	Abnormal renal pelvis morphology	57167	SALL4	OMIM:607323
HP:0010944	Abnormal renal pelvis morphology	8626	TP63	OMIM:604292
HP:0010944	Abnormal renal pelvis morphology	8626	TP63	ORPHA:1896
HP:0010944	Abnormal renal pelvis morphology	55593	OTUD5	OMIM:301056
HP:0010944	Abnormal renal pelvis morphology	2972	BRF1	ORPHA:444072
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	ORPHA:353281
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	OMIM:180849
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	ORPHA:353277
HP:0010944	Abnormal renal pelvis morphology	388015	RTL1	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	8788	DLK1	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	55384	MEG3	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	8085	KMT2D	ORPHA:2322
HP:0010944	Abnormal renal pelvis morphology	8085	KMT2D	OMIM:147920
HP:0010944	Abnormal renal pelvis morphology	7403	KDM6A	ORPHA:2322
HP:0010944	Abnormal renal pelvis morphology	7403	KDM6A	OMIM:147920
HP:0010944	Abnormal renal pelvis morphology	998	CDC42	OMIM:616737
HP:0010944	Abnormal renal pelvis morphology	998	CDC42	ORPHA:487796
HP:0010944	Abnormal renal pelvis morphology	2033	EP300	ORPHA:353284
HP:0010944	Abnormal renal pelvis morphology	2033	EP300	OMIM:180849
HP:0010944	Abnormal renal pelvis morphology	389827	MYMK	ORPHA:1358
HP:0010944	Abnormal renal pelvis morphology	101929726	MYMX	ORPHA:1358
HP:0010944	Abnormal renal pelvis morphology	56975	FAM20C	OMIM:259775
HP:0010944	Abnormal renal pelvis morphology	25915	NDUFAF3	OMIM:618240
HP:0010944	Abnormal renal pelvis morphology	85358	SHANK3	ORPHA:48652
HP:0010944	Abnormal renal pelvis morphology	9401	RECQL4	ORPHA:1225
HP:0010944	Abnormal renal pelvis morphology	5604	MAP2K1	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	5605	MAP2K2	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	3845	KRAS	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	2019	EN1	OMIM:619218
HP:0010944	Abnormal renal pelvis morphology	1063	CENPF	OMIM:243605
HP:0010944	Abnormal renal pelvis morphology	8260	NAA10	ORPHA:568
HP:0010944	Abnormal renal pelvis morphology	54880	BCOR	ORPHA:568
HP:0010944	Abnormal renal pelvis morphology	6469	SHH	OMIM:142945
HP:0010944	Abnormal renal pelvis morphology	23111	SPART	ORPHA:101000
HP:0010944	Abnormal renal pelvis morphology	1822	ATN1	OMIM:618494
HP:0010944	Abnormal renal pelvis morphology	2260	FGFR1	OMIM:613001
HP:0010944	Abnormal renal pelvis morphology	2313	FLI1	ORPHA:2308
HP:0010944	Abnormal renal pelvis morphology	2737	GLI3	OMIM:146510
HP:0010944	Abnormal renal pelvis morphology	760	CA2	ORPHA:2785
HP:0010944	Abnormal renal pelvis morphology	1499	CTNNB1	ORPHA:873
HP:0010944	Abnormal renal pelvis morphology	324	APC	ORPHA:873
HP:0010944	Abnormal renal pelvis morphology	64840	PORCN	OMIM:305600
HP:0010944	Abnormal renal pelvis morphology	64840	PORCN	ORPHA:2092
HP:0010944	Abnormal renal pelvis morphology	4613	MYCN	ORPHA:391641
HP:0010944	Abnormal renal pelvis morphology	10526	IPO8	OMIM:619472
HP:0010944	Abnormal renal pelvis morphology	2892	GRIA3	ORPHA:364028
HP:0010944	Abnormal renal pelvis morphology	5530	PPP3CA	OMIM:618265
HP:0010944	Abnormal renal pelvis morphology	975	CD81	OMIM:613496
HP:0010944	Abnormal renal pelvis morphology	92002	CCNQ	OMIM:300707
HP:0010944	Abnormal renal pelvis morphology	526	ATP6V1B2	ORPHA:79500
HP:0010944	Abnormal renal pelvis morphology	57465	TBC1D24	ORPHA:79500
HP:0010944	Abnormal renal pelvis morphology	80781	COL18A1	OMIM:267750
HP:0010944	Abnormal renal pelvis morphology	8204	NRIP1	OMIM:618270
HP:0010944	Abnormal renal pelvis morphology	55617	TASP1	OMIM:618950
HP:0010944	Abnormal renal pelvis morphology	51715	RAB23	OMIM:201000
HP:0010944	Abnormal renal pelvis morphology	25802	LMOD1	OMIM:619362
HP:0010944	Abnormal renal pelvis morphology	202018	TAPT1	OMIM:616897
HP:0010944	Abnormal renal pelvis morphology	1028	CDKN1C	ORPHA:85173
HP:0010944	Abnormal renal pelvis morphology	5426	POLE	ORPHA:85173
HP:0010944	Abnormal renal pelvis morphology	1376	CPT2	OMIM:608836
HP:0010944	Abnormal renal pelvis morphology	403	ARL3	OMIM:618161
HP:0010944	Abnormal renal pelvis morphology	9897	WASHC5	OMIM:220210
HP:0010944	Abnormal renal pelvis morphology	9897	WASHC5	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	5889	RAD51C	OMIM:613390
HP:0010944	Abnormal renal pelvis morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0010944	Abnormal renal pelvis morphology	10491	CRTAP	OMIM:610682
HP:0010944	Abnormal renal pelvis morphology	5236	PGM1	OMIM:614921
HP:0010944	Abnormal renal pelvis morphology	8481	OFD1	ORPHA:2750
HP:0010944	Abnormal renal pelvis morphology	219844	HYLS1	OMIM:236680
HP:0010944	Abnormal renal pelvis morphology	22930	RAB3GAP1	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	25782	RAB3GAP2	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	22931	RAB18	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	128637	TBC1D20	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	71	ACTG1	ORPHA:2995
HP:0010944	Abnormal renal pelvis morphology	60	ACTB	ORPHA:2995
HP:0010944	Abnormal renal pelvis morphology	7474	WNT5A	OMIM:180700
HP:0010944	Abnormal renal pelvis morphology	1855	DVL1	OMIM:180700
HP:0010944	Abnormal renal pelvis morphology	3239	HOXD13	ORPHA:887
HP:0010944	Abnormal renal pelvis morphology	28952	CCDC22	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	6913	TBX15	OMIM:260660
HP:0010944	Abnormal renal pelvis morphology	375056	MIA3	OMIM:619269
HP:0010944	Abnormal renal pelvis morphology	4281	MID1	ORPHA:2745
HP:0010944	Abnormal renal pelvis morphology	4654	MYOD1	OMIM:618975
HP:0010944	Abnormal renal pelvis morphology	11005	SPINK5	ORPHA:634
HP:0010944	Abnormal renal pelvis morphology	284252	KCTD1	ORPHA:2036
HP:0010944	Abnormal renal pelvis morphology	2719	GPC3	OMIM:312870
HP:0010944	Abnormal renal pelvis morphology	2239	GPC4	OMIM:312870
HP:0010944	Abnormal renal pelvis morphology	9839	ZEB2	ORPHA:261552
HP:0010944	Abnormal renal pelvis morphology	388662	SLC6A17	ORPHA:457212
HP:0010944	Abnormal renal pelvis morphology	2258	FGF13	OMIM:301058
HP:0010944	Abnormal renal pelvis morphology	284058	KANSL1	ORPHA:363965
HP:0010944	Abnormal renal pelvis morphology	284058	KANSL1	ORPHA:363958
HP:0010944	Abnormal renal pelvis morphology	9578	CDC42BPB	OMIM:619841
HP:0010944	Abnormal renal pelvis morphology	1182	CLCN3	OMIM:619512
HP:0010944	Abnormal renal pelvis morphology	10398	MYL9	OMIM:619365
HP:0010944	Abnormal renal pelvis morphology	93627	TBCK	OMIM:616900
HP:0010944	Abnormal renal pelvis morphology	10472	ZBTB18	OMIM:612337
HP:0010944	Abnormal renal pelvis morphology	54796	BNC2	ORPHA:93110
HP:0010944	Abnormal renal pelvis morphology	2294	FOXF1	OMIM:265380
HP:0010944	Abnormal renal pelvis morphology	10847	SRCAP	ORPHA:2044
HP:0010944	Abnormal renal pelvis morphology	27077	B9D1	OMIM:617120
HP:0010944	Abnormal renal pelvis morphology	3190	HNRNPK	OMIM:616580
HP:0010944	Abnormal renal pelvis morphology	91179	SCARF2	OMIM:600920
HP:0010944	Abnormal renal pelvis morphology	9939	RBM8A	OMIM:274000
HP:0010944	Abnormal renal pelvis morphology	79989	IFT56	OMIM:619534
HP:0010944	Abnormal renal pelvis morphology	5297	PI4KA	OMIM:619708
HP:0010944	Abnormal renal pelvis morphology	1859	DYRK1A	ORPHA:268261
HP:0010944	Abnormal renal pelvis morphology	5447	POR	ORPHA:95699
HP:0010944	Abnormal renal pelvis morphology	2271	FH	OMIM:606812
HP:0010944	Abnormal renal pelvis morphology	5277	PIGA	OMIM:300868
HP:0010945	Fetal pyelectasis	2258	FGF13	OMIM:301058
HP:0010945	Fetal pyelectasis	284058	KANSL1	ORPHA:363965
HP:0010945	Fetal pyelectasis	284058	KANSL1	ORPHA:363958
HP:0010945	Fetal pyelectasis	9578	CDC42BPB	OMIM:619841
HP:0010945	Fetal pyelectasis	1182	CLCN3	OMIM:619512
HP:0010945	Fetal pyelectasis	5297	PI4KA	OMIM:616531
HP:0010945	Fetal pyelectasis	10398	MYL9	OMIM:619365
HP:0010945	Fetal pyelectasis	93627	TBCK	OMIM:616900
HP:0010945	Fetal pyelectasis	10472	ZBTB18	OMIM:612337
HP:0010945	Fetal pyelectasis	54796	BNC2	ORPHA:93110
HP:0010945	Fetal pyelectasis	2271	FH	OMIM:606812
HP:0010945	Fetal pyelectasis	5277	PIGA	OMIM:300868
HP:0010946	Dilatation of the renal pelvis	6095	RORA	OMIM:618060
HP:0010946	Dilatation of the renal pelvis	7528	YY1	ORPHA:506358
HP:0010946	Dilatation of the renal pelvis	7528	YY1	OMIM:617557
HP:0010946	Dilatation of the renal pelvis	3376	IARS1	OMIM:617093
HP:0010946	Dilatation of the renal pelvis	3376	IARS1	ORPHA:541423
HP:0010946	Dilatation of the renal pelvis	9860	LRIG2	OMIM:615112
HP:0010946	Dilatation of the renal pelvis	9860	LRIG2	ORPHA:2704
HP:0010946	Dilatation of the renal pelvis	5339	PLEC	ORPHA:158684
HP:0010946	Dilatation of the renal pelvis	3691	ITGB4	ORPHA:158684
HP:0010946	Dilatation of the renal pelvis	3691	ITGB4	ORPHA:79403
HP:0010946	Dilatation of the renal pelvis	8425	LTBP4	OMIM:613177
HP:0010946	Dilatation of the renal pelvis	1161	ERCC8	ORPHA:90324
HP:0010946	Dilatation of the renal pelvis	2074	ERCC6	ORPHA:90324
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	ORPHA:2059
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	OMIM:614080
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	ORPHA:280633
HP:0010946	Dilatation of the renal pelvis	673	BRAF	OMIM:115150
HP:0010946	Dilatation of the renal pelvis	673	BRAF	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	8195	MKKS	OMIM:236700
HP:0010946	Dilatation of the renal pelvis	8195	MKKS	ORPHA:2473
HP:0010946	Dilatation of the renal pelvis	81857	MED25	OMIM:616449
HP:0010946	Dilatation of the renal pelvis	81857	MED25	ORPHA:464738
HP:0010946	Dilatation of the renal pelvis	145173	B3GLCT	ORPHA:709
HP:0010946	Dilatation of the renal pelvis	145173	B3GLCT	OMIM:261540
HP:0010946	Dilatation of the renal pelvis	4774	NFIA	OMIM:613735
HP:0010946	Dilatation of the renal pelvis	538	ATP7A	OMIM:304150
HP:0010946	Dilatation of the renal pelvis	64220	STRA6	OMIM:601186
HP:0010946	Dilatation of the renal pelvis	126792	B3GALT6	OMIM:609465
HP:0010946	Dilatation of the renal pelvis	1131	CHRM3	OMIM:100100
HP:0010946	Dilatation of the renal pelvis	64324	NSD1	ORPHA:821
HP:0010946	Dilatation of the renal pelvis	29072	SETD2	ORPHA:821
HP:0010946	Dilatation of the renal pelvis	10297	APC2	ORPHA:821
HP:0010946	Dilatation of the renal pelvis	10093	ARPC4	OMIM:620141
HP:0010946	Dilatation of the renal pelvis	3655	ITGA6	ORPHA:79403
HP:0010946	Dilatation of the renal pelvis	3909	LAMA3	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	3918	LAMC2	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	3914	LAMB3	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	6662	SOX9	ORPHA:140
HP:0010946	Dilatation of the renal pelvis	6662	SOX9	OMIM:114290
HP:0010946	Dilatation of the renal pelvis	197131	UBR1	OMIM:243800
HP:0010946	Dilatation of the renal pelvis	197131	UBR1	ORPHA:2315
HP:0010946	Dilatation of the renal pelvis	55112	DYNC2I1	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	57560	IFT80	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	57539	WDR35	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	79659	DYNC2H1	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	89891	DYNC2I2	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	2782	GNB1	ORPHA:488613
HP:0010946	Dilatation of the renal pelvis	2782	GNB1	OMIM:616973
HP:0010946	Dilatation of the renal pelvis	1717	DHCR7	ORPHA:818
HP:0010946	Dilatation of the renal pelvis	1717	DHCR7	OMIM:270400
HP:0010946	Dilatation of the renal pelvis	9915	ARNT2	OMIM:615926
HP:0010946	Dilatation of the renal pelvis	55636	CHD7	ORPHA:138
HP:0010946	Dilatation of the renal pelvis	55636	CHD7	OMIM:214800
HP:0010946	Dilatation of the renal pelvis	9723	SEMA3E	ORPHA:138
HP:0010946	Dilatation of the renal pelvis	9382	COG1	OMIM:611209
HP:0010946	Dilatation of the renal pelvis	5189	PEX1	OMIM:214100
HP:0010946	Dilatation of the renal pelvis	5189	PEX1	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	ORPHA:93260
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	OMIM:101200
HP:0010946	Dilatation of the renal pelvis	84992	PIGY	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	84720	PIGO	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	93210	PGAP3	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	284098	PIGW	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	27315	PGAP2	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	55650	PIGV	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	ORPHA:3474
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	OMIM:280000
HP:0010946	Dilatation of the renal pelvis	4001	LMNB1	OMIM:619179
HP:0010946	Dilatation of the renal pelvis	51360	MBTPS2	ORPHA:2273
HP:0010946	Dilatation of the renal pelvis	57492	ARID1B	OMIM:135900
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	ORPHA:363958
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	ORPHA:363965
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	OMIM:610443
HP:0010946	Dilatation of the renal pelvis	1136	CHRNA3	OMIM:191800
HP:0010946	Dilatation of the renal pelvis	113189	CHST14	ORPHA:2953
HP:0010946	Dilatation of the renal pelvis	113189	CHST14	OMIM:601776
HP:0010946	Dilatation of the renal pelvis	29940	DSE	ORPHA:2953
HP:0010946	Dilatation of the renal pelvis	50814	NSDHL	OMIM:308050
HP:0010946	Dilatation of the renal pelvis	23522	KAT6B	OMIM:606170
HP:0010946	Dilatation of the renal pelvis	23522	KAT6B	ORPHA:85201
HP:0010946	Dilatation of the renal pelvis	815	CAMK2A	OMIM:617798
HP:0010946	Dilatation of the renal pelvis	92579	G6PC3	OMIM:612541
HP:0010946	Dilatation of the renal pelvis	7994	KAT6A	ORPHA:457193
HP:0010946	Dilatation of the renal pelvis	7994	KAT6A	OMIM:616268
HP:0010946	Dilatation of the renal pelvis	64359	NXN	ORPHA:1507
HP:0010946	Dilatation of the renal pelvis	4920	ROR2	ORPHA:1507
HP:0010946	Dilatation of the renal pelvis	4920	ROR2	OMIM:268310
HP:0010946	Dilatation of the renal pelvis	546	ATRX	ORPHA:847
HP:0010946	Dilatation of the renal pelvis	546	ATRX	OMIM:301040
HP:0010946	Dilatation of the renal pelvis	23116	TOGARAM1	OMIM:619185
HP:0010946	Dilatation of the renal pelvis	6899	TBX1	OMIM:188400
HP:0010946	Dilatation of the renal pelvis	6899	TBX1	ORPHA:1727
HP:0010946	Dilatation of the renal pelvis	7466	WFS1	OMIM:222300
HP:0010946	Dilatation of the renal pelvis	9839	ZEB2	ORPHA:261552
HP:0010946	Dilatation of the renal pelvis	9839	ZEB2	ORPHA:261537
HP:0010946	Dilatation of the renal pelvis	4763	NF1	ORPHA:363700
HP:0010946	Dilatation of the renal pelvis	1656	DDX6	OMIM:618653
HP:0010946	Dilatation of the renal pelvis	10682	EBP	ORPHA:35173
HP:0010946	Dilatation of the renal pelvis	10682	EBP	OMIM:302960
HP:0010946	Dilatation of the renal pelvis	60495	HPSE2	ORPHA:2704
HP:0010946	Dilatation of the renal pelvis	60495	HPSE2	OMIM:236730
HP:0010946	Dilatation of the renal pelvis	7020	TFAP2A	ORPHA:1297
HP:0010946	Dilatation of the renal pelvis	9096	TBX18	OMIM:143400
HP:0010946	Dilatation of the renal pelvis	26040	SETBP1	OMIM:269150
HP:0010946	Dilatation of the renal pelvis	26040	SETBP1	ORPHA:798
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:90652
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:2484
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:304120
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:1826
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:309350
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:305620
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:300048
HP:0010946	Dilatation of the renal pelvis	8241	RBM10	OMIM:311900
HP:0010946	Dilatation of the renal pelvis	8241	RBM10	ORPHA:2886
HP:0010946	Dilatation of the renal pelvis	5337	PLD1	OMIM:212093
HP:0010946	Dilatation of the renal pelvis	3981	LIG4	ORPHA:235
HP:0010946	Dilatation of the renal pelvis	54888	NSUN2	ORPHA:235
HP:0010946	Dilatation of the renal pelvis	54914	FOCAD	OMIM:619991
HP:0010946	Dilatation of the renal pelvis	7498	XDH	OMIM:278300
HP:0010946	Dilatation of the renal pelvis	8239	USP9X	ORPHA:480880
HP:0010946	Dilatation of the renal pelvis	8239	USP9X	OMIM:300968
HP:0010946	Dilatation of the renal pelvis	5590	PRKCZ	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	2563	GABRD	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	23013	SPEN	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	8510	MMP23B	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	7798	LUZP1	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	6497	SKI	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	10630	PDPN	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	3339	HSPG2	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	10277	UBE4B	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	8514	KCNAB2	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	473	RERE	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	63976	PRDM16	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	54897	CASZ1	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	1493	CTLA4	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	26191	PTPN22	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	3115	HLA-DPB1	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	5657	PRTN3	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	3113	HLA-DPA1	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	2138	EYA1	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	147912	SIX5	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	6495	SIX1	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	79796	ALG9	ORPHA:79328
HP:0010946	Dilatation of the renal pelvis	2187	FANCB	OMIM:314390
HP:0010946	Dilatation of the renal pelvis	7547	ZIC3	OMIM:314390
HP:0010946	Dilatation of the renal pelvis	8314	BAP1	OMIM:619762
HP:0010946	Dilatation of the renal pelvis	7750	ZMYM2	OMIM:619522
HP:0010946	Dilatation of the renal pelvis	11041	B4GAT1	OMIM:615287
HP:0010946	Dilatation of the renal pelvis	2261	FGFR3	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	2255	FGF10	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	79971	WLS	OMIM:619648
HP:0010946	Dilatation of the renal pelvis	2065	ERBB3	OMIM:607598
HP:0010946	Dilatation of the renal pelvis	11128	POLR3A	ORPHA:3455
HP:0010946	Dilatation of the renal pelvis	9968	MED12	OMIM:301068
HP:0010946	Dilatation of the renal pelvis	2239	GPC4	ORPHA:373
HP:0010946	Dilatation of the renal pelvis	2239	GPC4	OMIM:312870
HP:0010946	Dilatation of the renal pelvis	2719	GPC3	ORPHA:373
HP:0010946	Dilatation of the renal pelvis	2719	GPC3	OMIM:312870
HP:0010946	Dilatation of the renal pelvis	2625	GATA3	ORPHA:2237
HP:0010946	Dilatation of the renal pelvis	64321	SOX17	OMIM:613674
HP:0010946	Dilatation of the renal pelvis	50628	GEMIN4	OMIM:617913
HP:0010946	Dilatation of the renal pelvis	6885	MAP3K7	ORPHA:1826
HP:0010946	Dilatation of the renal pelvis	147372	CCBE1	OMIM:235510
HP:0010946	Dilatation of the renal pelvis	8295	TRRAP	OMIM:618454
HP:0010946	Dilatation of the renal pelvis	9851	KIAA0753	OMIM:617127
HP:0010946	Dilatation of the renal pelvis	5081	PAX7	OMIM:618578
HP:0010946	Dilatation of the renal pelvis	166379	BBS12	OMIM:615989
HP:0010946	Dilatation of the renal pelvis	1642	DDB1	OMIM:619426
HP:0010946	Dilatation of the renal pelvis	63895	PIEZO2	ORPHA:2461
HP:0010946	Dilatation of the renal pelvis	55670	PEX26	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5824	PEX19	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5828	PEX2	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	8504	PEX3	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	8799	PEX11B	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	9409	PEX16	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5190	PEX6	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5830	PEX5	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5193	PEX12	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5194	PEX13	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5195	PEX14	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5192	PEX10	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	6654	SOS1	OMIM:610733
HP:0010946	Dilatation of the renal pelvis	80000	GREB1L	OMIM:617805
HP:0010946	Dilatation of the renal pelvis	91949	COG7	OMIM:608779
HP:0010946	Dilatation of the renal pelvis	9759	HDAC4	OMIM:619797
HP:0010946	Dilatation of the renal pelvis	54892	NCAPG2	OMIM:618460
HP:0010946	Dilatation of the renal pelvis	72	ACTG2	OMIM:619431
HP:0010946	Dilatation of the renal pelvis	72	ACTG2	OMIM:155310
HP:0010946	Dilatation of the renal pelvis	4683	NBN	OMIM:251260
HP:0010946	Dilatation of the renal pelvis	11020	IFT27	OMIM:615996
HP:0010946	Dilatation of the renal pelvis	5648	MASP1	OMIM:257920
HP:0010946	Dilatation of the renal pelvis	57167	SALL4	OMIM:607323
HP:0010946	Dilatation of the renal pelvis	8626	TP63	OMIM:604292
HP:0010946	Dilatation of the renal pelvis	8626	TP63	ORPHA:1896
HP:0010946	Dilatation of the renal pelvis	55593	OTUD5	OMIM:301056
HP:0010946	Dilatation of the renal pelvis	2972	BRF1	ORPHA:444072
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	ORPHA:353281
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	OMIM:180849
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	ORPHA:353277
HP:0010946	Dilatation of the renal pelvis	388015	RTL1	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	8788	DLK1	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	55384	MEG3	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	8085	KMT2D	ORPHA:2322
HP:0010946	Dilatation of the renal pelvis	8085	KMT2D	OMIM:147920
HP:0010946	Dilatation of the renal pelvis	7403	KDM6A	ORPHA:2322
HP:0010946	Dilatation of the renal pelvis	7403	KDM6A	OMIM:147920
HP:0010946	Dilatation of the renal pelvis	998	CDC42	OMIM:616737
HP:0010946	Dilatation of the renal pelvis	998	CDC42	ORPHA:487796
HP:0010946	Dilatation of the renal pelvis	2033	EP300	ORPHA:353284
HP:0010946	Dilatation of the renal pelvis	2033	EP300	OMIM:180849
HP:0010946	Dilatation of the renal pelvis	389827	MYMK	ORPHA:1358
HP:0010946	Dilatation of the renal pelvis	101929726	MYMX	ORPHA:1358
HP:0010946	Dilatation of the renal pelvis	56975	FAM20C	OMIM:259775
HP:0010946	Dilatation of the renal pelvis	25915	NDUFAF3	OMIM:618240
HP:0010946	Dilatation of the renal pelvis	85358	SHANK3	ORPHA:48652
HP:0010946	Dilatation of the renal pelvis	9401	RECQL4	ORPHA:1225
HP:0010946	Dilatation of the renal pelvis	5604	MAP2K1	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	5605	MAP2K2	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	3845	KRAS	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	2019	EN1	OMIM:619218
HP:0010946	Dilatation of the renal pelvis	1063	CENPF	OMIM:243605
HP:0010946	Dilatation of the renal pelvis	8260	NAA10	ORPHA:568
HP:0010946	Dilatation of the renal pelvis	54880	BCOR	ORPHA:568
HP:0010946	Dilatation of the renal pelvis	6469	SHH	OMIM:142945
HP:0010946	Dilatation of the renal pelvis	23111	SPART	ORPHA:101000
HP:0010946	Dilatation of the renal pelvis	1822	ATN1	OMIM:618494
HP:0010946	Dilatation of the renal pelvis	2260	FGFR1	OMIM:613001
HP:0010946	Dilatation of the renal pelvis	2313	FLI1	ORPHA:2308
HP:0010946	Dilatation of the renal pelvis	2737	GLI3	OMIM:146510
HP:0010946	Dilatation of the renal pelvis	760	CA2	ORPHA:2785
HP:0010946	Dilatation of the renal pelvis	1499	CTNNB1	ORPHA:873
HP:0010946	Dilatation of the renal pelvis	324	APC	ORPHA:873
HP:0010946	Dilatation of the renal pelvis	64840	PORCN	OMIM:305600
HP:0010946	Dilatation of the renal pelvis	64840	PORCN	ORPHA:2092
HP:0010946	Dilatation of the renal pelvis	4613	MYCN	ORPHA:391641
HP:0010946	Dilatation of the renal pelvis	10526	IPO8	OMIM:619472
HP:0010946	Dilatation of the renal pelvis	2892	GRIA3	ORPHA:364028
HP:0010946	Dilatation of the renal pelvis	5530	PPP3CA	OMIM:618265
HP:0010946	Dilatation of the renal pelvis	975	CD81	OMIM:613496
HP:0010946	Dilatation of the renal pelvis	92002	CCNQ	OMIM:300707
HP:0010946	Dilatation of the renal pelvis	54796	BNC2	ORPHA:93110
HP:0010946	Dilatation of the renal pelvis	526	ATP6V1B2	ORPHA:79500
HP:0010946	Dilatation of the renal pelvis	57465	TBC1D24	ORPHA:79500
HP:0010946	Dilatation of the renal pelvis	80781	COL18A1	OMIM:267750
HP:0010946	Dilatation of the renal pelvis	8204	NRIP1	OMIM:618270
HP:0010946	Dilatation of the renal pelvis	55617	TASP1	OMIM:618950
HP:0010946	Dilatation of the renal pelvis	51715	RAB23	OMIM:201000
HP:0010946	Dilatation of the renal pelvis	25802	LMOD1	OMIM:619362
HP:0010946	Dilatation of the renal pelvis	202018	TAPT1	OMIM:616897
HP:0010946	Dilatation of the renal pelvis	1028	CDKN1C	ORPHA:85173
HP:0010946	Dilatation of the renal pelvis	5426	POLE	ORPHA:85173
HP:0010946	Dilatation of the renal pelvis	1376	CPT2	OMIM:608836
HP:0010946	Dilatation of the renal pelvis	403	ARL3	OMIM:618161
HP:0010946	Dilatation of the renal pelvis	9897	WASHC5	OMIM:220210
HP:0010946	Dilatation of the renal pelvis	9897	WASHC5	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	5889	RAD51C	OMIM:613390
HP:0010946	Dilatation of the renal pelvis	100151683	RNU4ATAC	ORPHA:2636
HP:0010946	Dilatation of the renal pelvis	10491	CRTAP	OMIM:610682
HP:0010946	Dilatation of the renal pelvis	5236	PGM1	OMIM:614921
HP:0010946	Dilatation of the renal pelvis	8481	OFD1	ORPHA:2750
HP:0010946	Dilatation of the renal pelvis	219844	HYLS1	OMIM:236680
HP:0010946	Dilatation of the renal pelvis	22930	RAB3GAP1	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	25782	RAB3GAP2	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	22931	RAB18	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	128637	TBC1D20	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	71	ACTG1	ORPHA:2995
HP:0010946	Dilatation of the renal pelvis	60	ACTB	ORPHA:2995
HP:0010946	Dilatation of the renal pelvis	7474	WNT5A	OMIM:180700
HP:0010946	Dilatation of the renal pelvis	1855	DVL1	OMIM:180700
HP:0010946	Dilatation of the renal pelvis	3239	HOXD13	ORPHA:887
HP:0010946	Dilatation of the renal pelvis	28952	CCDC22	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	6913	TBX15	OMIM:260660
HP:0010946	Dilatation of the renal pelvis	375056	MIA3	OMIM:619269
HP:0010946	Dilatation of the renal pelvis	4281	MID1	ORPHA:2745
HP:0010946	Dilatation of the renal pelvis	4654	MYOD1	OMIM:618975
HP:0010946	Dilatation of the renal pelvis	11005	SPINK5	ORPHA:634
HP:0010946	Dilatation of the renal pelvis	2294	FOXF1	OMIM:265380
HP:0010946	Dilatation of the renal pelvis	10847	SRCAP	ORPHA:2044
HP:0010946	Dilatation of the renal pelvis	27077	B9D1	OMIM:617120
HP:0010946	Dilatation of the renal pelvis	3190	HNRNPK	OMIM:616580
HP:0010946	Dilatation of the renal pelvis	91179	SCARF2	OMIM:600920
HP:0010946	Dilatation of the renal pelvis	9939	RBM8A	OMIM:274000
HP:0010946	Dilatation of the renal pelvis	79989	IFT56	OMIM:619534
HP:0010946	Dilatation of the renal pelvis	5297	PI4KA	OMIM:619708
HP:0010946	Dilatation of the renal pelvis	1859	DYRK1A	ORPHA:268261
HP:0010946	Dilatation of the renal pelvis	5447	POR	ORPHA:95699
HP:0010948	Abnormal fetal cardiovascular morphology	2294	FOXF1	OMIM:265380
HP:0010948	Abnormal fetal cardiovascular morphology	2294	FOXF1	ORPHA:210122
HP:0010948	Abnormal fetal cardiovascular morphology	7490	WT1	OMIM:608978
HP:0010948	Abnormal fetal cardiovascular morphology	5447	POR	OMIM:201750
HP:0010948	Abnormal fetal cardiovascular morphology	5977	DPF2	OMIM:618027
HP:0010948	Abnormal fetal cardiovascular morphology	2187	FANCB	OMIM:300514
HP:0010948	Abnormal fetal cardiovascular morphology	2187	FANCB	ORPHA:3412
HP:0010948	Abnormal fetal cardiovascular morphology	2627	GATA6	ORPHA:2255
HP:0010948	Abnormal fetal cardiovascular morphology	2627	GATA6	OMIM:600001
HP:0010948	Abnormal fetal cardiovascular morphology	374879	ZNF699	OMIM:619488
HP:0010948	Abnormal fetal cardiovascular morphology	91179	SCARF2	OMIM:600920
HP:0010948	Abnormal fetal cardiovascular morphology	117581	TWIST2	OMIM:200110
HP:0010948	Abnormal fetal cardiovascular morphology	54870	QRICH1	OMIM:617982
HP:0010948	Abnormal fetal cardiovascular morphology	202018	TAPT1	OMIM:616897
HP:0010948	Abnormal fetal cardiovascular morphology	4893	NRAS	OMIM:613224
HP:0010948	Abnormal fetal cardiovascular morphology	55784	MCTP2	ORPHA:1596
HP:0010948	Abnormal fetal cardiovascular morphology	55690	PACS1	OMIM:615009
HP:0010948	Abnormal fetal cardiovascular morphology	55690	PACS1	ORPHA:329224
HP:0010948	Abnormal fetal cardiovascular morphology	4625	MYH7	OMIM:613426
HP:0010948	Abnormal fetal cardiovascular morphology	2188	FANCF	OMIM:603467
HP:0010948	Abnormal fetal cardiovascular morphology	9897	WASHC5	OMIM:220210
HP:0010948	Abnormal fetal cardiovascular morphology	9897	WASHC5	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	775	CACNA1C	OMIM:601005
HP:0010948	Abnormal fetal cardiovascular morphology	84992	PIGY	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	84720	PIGO	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	93210	PGAP3	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	284098	PIGW	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	27315	PGAP2	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	55650	PIGV	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	9487	PIGL	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	3339	HSPG2	OMIM:224410
HP:0010948	Abnormal fetal cardiovascular morphology	3339	HSPG2	ORPHA:1865
HP:0010948	Abnormal fetal cardiovascular morphology	84231	TRAF7	OMIM:618164
HP:0010948	Abnormal fetal cardiovascular morphology	10463	SLC30A9	OMIM:617595
HP:0010948	Abnormal fetal cardiovascular morphology	10274	STAG1	OMIM:617635
HP:0010948	Abnormal fetal cardiovascular morphology	7473	WNT3	OMIM:273395
HP:0010948	Abnormal fetal cardiovascular morphology	3239	HOXD13	ORPHA:887
HP:0010948	Abnormal fetal cardiovascular morphology	28952	CCDC22	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	11011	TLK2	OMIM:618050
HP:0010948	Abnormal fetal cardiovascular morphology	1656	DDX6	OMIM:618653
HP:0010948	Abnormal fetal cardiovascular morphology	54903	MKS1	OMIM:249000
HP:0010948	Abnormal fetal cardiovascular morphology	23384	SPECC1L	OMIM:145420
HP:0010948	Abnormal fetal cardiovascular morphology	2783	GNB2	OMIM:619503
HP:0010948	Abnormal fetal cardiovascular morphology	5062	PAK2	OMIM:618458
HP:0010948	Abnormal fetal cardiovascular morphology	79633	FAT4	OMIM:615546
HP:0010948	Abnormal fetal cardiovascular morphology	5879	RAC1	OMIM:617751
HP:0010948	Abnormal fetal cardiovascular morphology	286204	CRB2	OMIM:219730
HP:0010948	Abnormal fetal cardiovascular morphology	29969	MDFIC	OMIM:620014
HP:0010948	Abnormal fetal cardiovascular morphology	23395	LARS2	OMIM:617021
HP:0010948	Abnormal fetal cardiovascular morphology	3190	HNRNPK	OMIM:616580
HP:0010948	Abnormal fetal cardiovascular morphology	55901	THSD1	OMIM:620244
HP:0010948	Abnormal fetal cardiovascular morphology	6007	RHD	OMIM:619462
HP:0010941	Aplasia of the nasal bone	4659	PPP1R12A	OMIM:618820
HP:0010941	Aplasia of the nasal bone	5159	PDGFRB	OMIM:601812
HP:0010941	Aplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0010941	Aplasia of the nasal bone	6496	SIX3	OMIM:157170
HP:0010941	Aplasia of the nasal bone	60529	ALX4	OMIM:613451
HP:0000734	Disinhibition	54209	TREM2	OMIM:618193
HP:0000734	Disinhibition	54209	TREM2	ORPHA:275864
HP:0000734	Disinhibition	54209	TREM2	ORPHA:1020
HP:0000734	Disinhibition	54209	TREM2	ORPHA:2770
HP:0000734	Disinhibition	5663	PSEN1	OMIM:600274
HP:0000734	Disinhibition	5663	PSEN1	OMIM:172700
HP:0000734	Disinhibition	5663	PSEN1	ORPHA:275864
HP:0000734	Disinhibition	5663	PSEN1	ORPHA:1020
HP:0000734	Disinhibition	3064	HTT	ORPHA:399
HP:0000734	Disinhibition	6515	SLC2A3	ORPHA:399
HP:0000734	Disinhibition	2512	FTL	OMIM:606159
HP:0000734	Disinhibition	25978	CHMP2B	OMIM:600795
HP:0000734	Disinhibition	25978	CHMP2B	ORPHA:275864
HP:0000734	Disinhibition	2332	FMR1	OMIM:300623
HP:0000734	Disinhibition	7305	TYROBP	OMIM:221770
HP:0000734	Disinhibition	7305	TYROBP	ORPHA:2770
HP:0000734	Disinhibition	23230	VPS13A	OMIM:200150
HP:0000734	Disinhibition	10347	ABCA7	OMIM:608907
HP:0000734	Disinhibition	10347	ABCA7	ORPHA:1020
HP:0000734	Disinhibition	23435	TARDBP	OMIM:612069
HP:0000734	Disinhibition	23435	TARDBP	ORPHA:275872
HP:0000734	Disinhibition	2896	GRN	ORPHA:275864
HP:0000734	Disinhibition	2896	GRN	OMIM:607485
HP:0000734	Disinhibition	54664	TMEM106B	ORPHA:275864
HP:0000734	Disinhibition	8878	SQSTM1	ORPHA:275864
HP:0000734	Disinhibition	8878	SQSTM1	OMIM:616437
HP:0000734	Disinhibition	8878	SQSTM1	ORPHA:275872
HP:0000734	Disinhibition	7415	VCP	ORPHA:275864
HP:0000734	Disinhibition	7415	VCP	ORPHA:275872
HP:0000734	Disinhibition	29110	TBK1	OMIM:616439
HP:0000734	Disinhibition	29110	TBK1	ORPHA:275872
HP:0000734	Disinhibition	5664	PSEN2	ORPHA:1020
HP:0000734	Disinhibition	10452	TOMM40	ORPHA:1020
HP:0000734	Disinhibition	351	APP	ORPHA:1020
HP:0000734	Disinhibition	6653	SORL1	ORPHA:1020
HP:0000734	Disinhibition	6683	SPAST	OMIM:182601
HP:0000734	Disinhibition	2521	FUS	ORPHA:275872
HP:0000734	Disinhibition	400916	CHCHD10	ORPHA:275872
HP:0000734	Disinhibition	1639	DCTN1	OMIM:168605
HP:0000734	Disinhibition	283489	CHAMP1	OMIM:616579
HP:0000734	Disinhibition	6595	SMARCA2	OMIM:619293
HP:0000734	Disinhibition	83479	DDX59	OMIM:174300
HP:0000734	Disinhibition	6804	STX1A	ORPHA:904
HP:0000734	Disinhibition	7461	CLIP2	ORPHA:904
HP:0000734	Disinhibition	84277	DNAJC30	ORPHA:904
HP:0000734	Disinhibition	8468	FKBP6	ORPHA:904
HP:0000734	Disinhibition	5982	RFC2	ORPHA:904
HP:0000734	Disinhibition	2969	GTF2I	ORPHA:904
HP:0000734	Disinhibition	3984	LIMK1	ORPHA:904
HP:0000734	Disinhibition	9569	GTF2IRD1	ORPHA:904
HP:0000734	Disinhibition	155382	VPS37D	ORPHA:904
HP:0000734	Disinhibition	155368	METTL27	ORPHA:904
HP:0000734	Disinhibition	114049	BUD23	ORPHA:904
HP:0000734	Disinhibition	7458	EIF4H	ORPHA:904
HP:0000734	Disinhibition	84163	GTF2IRD2	ORPHA:904
HP:0000734	Disinhibition	9275	BCL7B	ORPHA:904
HP:0000734	Disinhibition	26608	TBL2	ORPHA:904
HP:0000734	Disinhibition	653361	NCF1	ORPHA:904
HP:0000734	Disinhibition	135886	TMEM270	ORPHA:904
HP:0000734	Disinhibition	51085	MLXIPL	ORPHA:904
HP:0000734	Disinhibition	9031	BAZ1B	ORPHA:904
HP:0000734	Disinhibition	2006	ELN	ORPHA:904
HP:0000734	Disinhibition	23389	MED13L	ORPHA:369891
HP:0000734	Disinhibition	5283	PIGH	OMIM:618010
HP:0000734	Disinhibition	23126	POGZ	OMIM:616364
HP:0000734	Disinhibition	57526	PCDH19	ORPHA:101039
HP:0000734	Disinhibition	57526	PCDH19	ORPHA:33069
HP:0000734	Disinhibition	7874	USP7	ORPHA:500055
HP:0000734	Disinhibition	23013	SPEN	OMIM:619312
HP:0000734	Disinhibition	8367	H4C5	OMIM:619950
HP:0000734	Disinhibition	139411	PTCHD1	OMIM:300830
HP:0000734	Disinhibition	56896	DPYSL5	OMIM:619435
HP:0000734	Disinhibition	22866	CNKSR2	OMIM:301008
HP:0000734	Disinhibition	22866	CNKSR2	ORPHA:442835
HP:0000734	Disinhibition	6711	SPTBN1	OMIM:619475
HP:0000734	Disinhibition	1387	CREBBP	OMIM:180849
HP:0000734	Disinhibition	1387	CREBBP	ORPHA:353281
HP:0000734	Disinhibition	1387	CREBBP	ORPHA:353277
HP:0000734	Disinhibition	2033	EP300	OMIM:180849
HP:0000734	Disinhibition	2033	EP300	ORPHA:353284
HP:0000734	Disinhibition	1213	CLTC	OMIM:617854
HP:0000734	Disinhibition	1213	CLTC	ORPHA:442835
HP:0000734	Disinhibition	51126	NAA20	OMIM:619717
HP:0000734	Disinhibition	773	CACNA1A	ORPHA:2131
HP:0000734	Disinhibition	773	CACNA1A	ORPHA:442835
HP:0000734	Disinhibition	6507	SLC1A3	ORPHA:2131
HP:0000734	Disinhibition	477	ATP1A2	ORPHA:2131
HP:0000734	Disinhibition	477	ATP1A2	ORPHA:442835
HP:0000734	Disinhibition	478	ATP1A3	ORPHA:2131
HP:0000734	Disinhibition	478	ATP1A3	ORPHA:442835
HP:0000734	Disinhibition	6335	SCN9A	ORPHA:33069
HP:0000734	Disinhibition	6326	SCN2A	ORPHA:33069
HP:0000734	Disinhibition	2554	GABRA1	ORPHA:33069
HP:0000734	Disinhibition	6323	SCN1A	ORPHA:33069
HP:0000734	Disinhibition	6324	SCN1B	ORPHA:33069
HP:0000734	Disinhibition	2566	GABRG2	ORPHA:33069
HP:0000734	Disinhibition	2566	GABRG2	ORPHA:442835
HP:0000734	Disinhibition	81839	VANGL1	ORPHA:3027
HP:0000734	Disinhibition	80199	FUZ	ORPHA:3027
HP:0000734	Disinhibition	10093	ARPC4	OMIM:620141
HP:0000734	Disinhibition	2731	GLDC	OMIM:605899
HP:0000734	Disinhibition	275	AMT	OMIM:605899
HP:0000734	Disinhibition	7343	UBTF	ORPHA:500180
HP:0000734	Disinhibition	79783	SUGCT	ORPHA:35706
HP:0000734	Disinhibition	2334	AFF2	ORPHA:100973
HP:0000734	Disinhibition	2334	AFF2	OMIM:309548
HP:0000734	Disinhibition	4841	NONO	OMIM:300967
HP:0000734	Disinhibition	113179	ADAT3	ORPHA:363528
HP:0000734	Disinhibition	28514	DLL1	ORPHA:280195
HP:0000734	Disinhibition	2253	FGF8	ORPHA:280195
HP:0000734	Disinhibition	6496	SIX3	ORPHA:280195
HP:0000734	Disinhibition	7050	TGIF1	ORPHA:280195
HP:0000734	Disinhibition	4838	NODAL	ORPHA:280195
HP:0000734	Disinhibition	6469	SHH	ORPHA:280195
HP:0000734	Disinhibition	7546	ZIC2	ORPHA:280195
HP:0000734	Disinhibition	6491	STIL	ORPHA:280195
HP:0000734	Disinhibition	2619	GAS1	ORPHA:280195
HP:0000734	Disinhibition	84976	DISP1	ORPHA:280195
HP:0000734	Disinhibition	2736	GLI2	ORPHA:280195
HP:0000734	Disinhibition	8928	FOXH1	ORPHA:280195
HP:0000734	Disinhibition	5727	PTCH1	ORPHA:280195
HP:0000734	Disinhibition	50937	CDON	ORPHA:280195
HP:0000734	Disinhibition	23291	FBXW11	OMIM:618914
HP:0000734	Disinhibition	3097	HIVEP2	OMIM:616977
HP:0000734	Disinhibition	1786	DNMT1	OMIM:614116
HP:0000734	Disinhibition	10847	SRCAP	ORPHA:2044
HP:0000734	Disinhibition	57082	KNL1	OMIM:604321
HP:0000734	Disinhibition	284403	WDR62	OMIM:604317
HP:0000734	Disinhibition	64601	VPS16	OMIM:619291
HP:0000734	Disinhibition	80025	PANK2	ORPHA:216873
HP:0000734	Disinhibition	4128	MAOA	OMIM:300615
HP:0000734	Disinhibition	2562	GABRB3	OMIM:617113
HP:0000734	Disinhibition	4137	MAPT	ORPHA:240071
HP:0000734	Disinhibition	63035	BCORL1	OMIM:301029
HP:0000734	Disinhibition	4781	NFIB	OMIM:618286
HP:0000734	Disinhibition	55023	PHIP	OMIM:617991
HP:0000734	Disinhibition	55023	PHIP	ORPHA:589905
HP:0000734	Disinhibition	54551	MAGEL2	ORPHA:398069
HP:0000734	Disinhibition	54551	MAGEL2	OMIM:615547
HP:0000734	Disinhibition	3458	IFNG	ORPHA:805
HP:0000734	Disinhibition	7248	TSC1	ORPHA:805
HP:0000734	Disinhibition	7249	TSC2	ORPHA:805
HP:0000734	Disinhibition	284058	KANSL1	OMIM:610443
HP:0000734	Disinhibition	2629	GBA1	ORPHA:411602
HP:0000734	Disinhibition	23317	DNAJC13	ORPHA:411602
HP:0000734	Disinhibition	1981	EIF4G1	ORPHA:411602
HP:0000734	Disinhibition	55737	VPS35	ORPHA:411602
HP:0000734	Disinhibition	120892	LRRK2	ORPHA:411602
HP:0000734	Disinhibition	120892	LRRK2	ORPHA:2828
HP:0000734	Disinhibition	26058	GIGYF2	ORPHA:411602
HP:0000734	Disinhibition	6622	SNCA	ORPHA:411602
HP:0000734	Disinhibition	6622	SNCA	ORPHA:2828
HP:0000734	Disinhibition	8398	PLA2G6	ORPHA:35069
HP:0000734	Disinhibition	8398	PLA2G6	OMIM:610217
HP:0000734	Disinhibition	1000	CDH2	OMIM:618929
HP:0000734	Disinhibition	4914	NTRK1	ORPHA:642
HP:0000734	Disinhibition	2898	GRIK2	OMIM:619580
HP:0000734	Disinhibition	5422	POLA1	OMIM:301030
HP:0000734	Disinhibition	11141	IL1RAPL1	OMIM:300143
HP:0000734	Disinhibition	5649	RELN	ORPHA:101046
HP:0000734	Disinhibition	9211	LGI1	ORPHA:101046
HP:0000734	Disinhibition	9681	DEPDC5	ORPHA:101046
HP:0000734	Disinhibition	84274	COQ5	OMIM:619028
HP:0000734	Disinhibition	83636	C19orf12	OMIM:614298
HP:0000734	Disinhibition	341208	HEPHL1	OMIM:261990
HP:0000734	Disinhibition	22995	CEP152	OMIM:614852
HP:0000734	Disinhibition	2783	GNB2	OMIM:619503
HP:0000734	Disinhibition	54832	VPS13C	ORPHA:2828
HP:0000734	Disinhibition	11315	PARK7	ORPHA:2828
HP:0000734	Disinhibition	7345	UCHL1	ORPHA:2828
HP:0000734	Disinhibition	27429	HTRA2	ORPHA:2828
HP:0000734	Disinhibition	9829	DNAJC6	ORPHA:2828
HP:0000734	Disinhibition	5420	PODXL	ORPHA:2828
HP:0000734	Disinhibition	65018	PINK1	ORPHA:2828
HP:0000734	Disinhibition	8867	SYNJ1	ORPHA:2828
HP:0000734	Disinhibition	8867	SYNJ1	ORPHA:442835
HP:0000734	Disinhibition	5071	PRKN	ORPHA:2828
HP:0000734	Disinhibition	2903	GRIN2A	ORPHA:98818
HP:0000734	Disinhibition	3737	KCNA2	ORPHA:442835
HP:0000734	Disinhibition	1759	DNM1	ORPHA:442835
HP:0000734	Disinhibition	8120	AP3B2	ORPHA:442835
HP:0000734	Disinhibition	523	ATP6V1A	ORPHA:442835
HP:0000734	Disinhibition	10991	SLC38A3	ORPHA:442835
HP:0000734	Disinhibition	51343	FZR1	ORPHA:442835
HP:0000734	Disinhibition	22906	TRAK1	ORPHA:442835
HP:0000734	Disinhibition	1917	EEF1A2	ORPHA:442835
HP:0000734	Disinhibition	2561	GABRB2	ORPHA:442835
HP:0000734	Disinhibition	8831	SYNGAP1	ORPHA:442835
HP:0000734	Disinhibition	7532	YWHAG	ORPHA:442835
HP:0000734	Disinhibition	79876	UBA5	ORPHA:442835
HP:0000734	Disinhibition	6328	SCN3A	ORPHA:442835
HP:0000734	Disinhibition	2558	GABRA5	ORPHA:442835
HP:0000734	Disinhibition	781	CACNA2D1	ORPHA:442835
HP:0000734	Disinhibition	2906	GRIN2D	ORPHA:442835
HP:0000734	Disinhibition	116150	NUS1	ORPHA:442835
HP:0000734	Disinhibition	10659	CELF2	ORPHA:442835
HP:0000734	Disinhibition	774	CACNA1B	ORPHA:442835
HP:0000734	Disinhibition	51741	WWOX	ORPHA:442835
HP:0000734	Disinhibition	23334	SZT2	ORPHA:442835
HP:0000734	Disinhibition	51412	ACTL6B	ORPHA:442835
HP:0000734	Disinhibition	348980	HCN1	ORPHA:442835
HP:0000734	Disinhibition	6506	SLC1A2	ORPHA:442835
HP:0000734	Disinhibition	2258	FGF13	ORPHA:442835
HP:0000734	Disinhibition	3745	KCNB1	ORPHA:442835
HP:0000734	Disinhibition	284111	SLC13A5	ORPHA:442835
HP:0000734	Disinhibition	25977	NECAP1	ORPHA:442835
HP:0000734	Disinhibition	16	AARS1	ORPHA:442835
HP:0000734	Disinhibition	6334	SCN8A	ORPHA:442835
HP:0000734	Disinhibition	9568	GABBR2	ORPHA:442835
HP:0000734	Disinhibition	2555	GABRA2	ORPHA:442835
HP:0000734	Disinhibition	55152	DALRD3	ORPHA:442835
HP:0000734	Disinhibition	26999	CYFIP2	ORPHA:442835
HP:0000734	Disinhibition	4915	NTRK2	ORPHA:442835
HP:0000734	Disinhibition	25973	PARS2	ORPHA:442835
HP:0000734	Disinhibition	23097	CDK19	ORPHA:442835
HP:0000734	Disinhibition	64801	ARV1	ORPHA:442835
HP:0000734	Disinhibition	79947	DHDDS	ORPHA:442835
HP:0000734	Disinhibition	2257	FGF12	ORPHA:442835
HP:0000734	Disinhibition	5530	PPP3CA	ORPHA:442835
HP:0000734	Disinhibition	339453	TMEM240	OMIM:607454
HP:0000735	Impaired social interactions	6638	SNRPN	OMIM:209850
HP:0000735	Impaired social interactions	388015	RTL1	ORPHA:254531
HP:0000735	Impaired social interactions	8788	DLK1	ORPHA:254531
HP:0000735	Impaired social interactions	55384	MEG3	ORPHA:254531
HP:0000735	Impaired social interactions	83480	PUS3	OMIM:617051
HP:0000735	Impaired social interactions	10771	ZMYND11	OMIM:616083
HP:0000735	Impaired social interactions	6535	SLC6A8	OMIM:300352
HP:0000735	Impaired social interactions	23394	ADNP	ORPHA:404448
HP:0000735	Impaired social interactions	23394	ADNP	OMIM:615873
HP:0000735	Impaired social interactions	340533	NEXMIF	OMIM:300912
HP:0000735	Impaired social interactions	340533	NEXMIF	ORPHA:1942
HP:0000735	Impaired social interactions	84894	LINGO1	OMIM:618103
HP:0000735	Impaired social interactions	6711	SPTBN1	OMIM:619475
HP:0000735	Impaired social interactions	1213	CLTC	OMIM:617854
HP:0000735	Impaired social interactions	54902	TTC19	OMIM:615157
HP:0000735	Impaired social interactions	2290	FOXG1	OMIM:613454
HP:0000735	Impaired social interactions	4983	OPHN1	ORPHA:137831
HP:0000735	Impaired social interactions	9968	MED12	OMIM:309520
HP:0000735	Impaired social interactions	85358	SHANK3	OMIM:606232
HP:0000735	Impaired social interactions	6792	CDKL5	ORPHA:3095
HP:0000735	Impaired social interactions	22854	NTNG1	ORPHA:3095
HP:0000735	Impaired social interactions	9568	GABBR2	ORPHA:3095
HP:0000735	Impaired social interactions	4204	MECP2	ORPHA:3095
HP:0000735	Impaired social interactions	8243	SMC1A	ORPHA:3095
HP:0000735	Impaired social interactions	1387	CREBBP	ORPHA:353281
HP:0000735	Impaired social interactions	1387	CREBBP	ORPHA:353277
HP:0000735	Impaired social interactions	440138	ALG11	ORPHA:280071
HP:0000735	Impaired social interactions	22871	NLGN1	OMIM:618830
HP:0000735	Impaired social interactions	2902	GRIN1	OMIM:617820
HP:0000735	Impaired social interactions	200424	TET3	OMIM:618798
HP:0000735	Impaired social interactions	2033	EP300	ORPHA:353284
HP:0000735	Impaired social interactions	5422	POLA1	ORPHA:163976
HP:0000735	Impaired social interactions	55777	MBD5	OMIM:156200
HP:0000735	Impaired social interactions	8925	HERC1	ORPHA:457359
HP:0000735	Impaired social interactions	2898	GRIK2	OMIM:611092
HP:0000735	Impaired social interactions	4123	MAN2C1	OMIM:619775
HP:0000735	Impaired social interactions	2332	FMR1	ORPHA:449291
HP:0000735	Impaired social interactions	8831	SYNGAP1	ORPHA:544254
HP:0000735	Impaired social interactions	8831	SYNGAP1	ORPHA:1942
HP:0000735	Impaired social interactions	5119	CHMP1A	OMIM:614961
HP:0000735	Impaired social interactions	26047	CNTNAP2	OMIM:610042
HP:0000735	Impaired social interactions	10352	WARS2	OMIM:619738
HP:0000735	Impaired social interactions	10381	TUBB3	ORPHA:300570
HP:0000735	Impaired social interactions	10716	TBR1	OMIM:606053
HP:0000735	Impaired social interactions	6513	SLC2A1	ORPHA:1942
HP:0000735	Impaired social interactions	1173	AP2M1	ORPHA:1942
HP:0000735	Impaired social interactions	6323	SCN1A	ORPHA:1942
HP:0000735	Impaired social interactions	1106	CHD2	ORPHA:1942
HP:0000735	Impaired social interactions	6529	SLC6A1	ORPHA:1942
HP:0000735	Impaired social interactions	8398	PLA2G6	OMIM:256600
HP:0000735	Impaired social interactions	54832	VPS13C	ORPHA:2828
HP:0000735	Impaired social interactions	11315	PARK7	ORPHA:2828
HP:0000735	Impaired social interactions	7345	UCHL1	ORPHA:2828
HP:0000735	Impaired social interactions	27429	HTRA2	ORPHA:2828
HP:0000735	Impaired social interactions	120892	LRRK2	ORPHA:2828
HP:0000735	Impaired social interactions	9829	DNAJC6	ORPHA:2828
HP:0000735	Impaired social interactions	6622	SNCA	ORPHA:2828
HP:0000735	Impaired social interactions	5420	PODXL	ORPHA:2828
HP:0000735	Impaired social interactions	65018	PINK1	ORPHA:2828
HP:0000735	Impaired social interactions	8867	SYNJ1	ORPHA:2828
HP:0000735	Impaired social interactions	5071	PRKN	ORPHA:2828
HP:0000735	Impaired social interactions	4763	NF1	ORPHA:97685
HP:0000735	Impaired social interactions	2137	EXTL3	ORPHA:508533
HP:0000735	Impaired social interactions	51	ACOX1	OMIM:264470
HP:0000735	Impaired social interactions	23096	IQSEC2	OMIM:309530
HP:0000735	Impaired social interactions	81603	TRIM8	OMIM:619428
HP:0000735	Impaired social interactions	84340	GFM2	ORPHA:565624
HP:0000735	Impaired social interactions	25970	SH2B1	ORPHA:329249
HP:0000736	Short attention span	3479	IGF1	ORPHA:73272
HP:0000736	Short attention span	3479	IGF1	OMIM:608747
HP:0000736	Short attention span	5621	PRNP	ORPHA:282166
HP:0000736	Short attention span	4558	MT-TF	ORPHA:550
HP:0000736	Short attention span	4572	MT-TQ	ORPHA:550
HP:0000736	Short attention span	4512	MT-CO1	ORPHA:550
HP:0000736	Short attention span	4513	MT-CO2	ORPHA:550
HP:0000736	Short attention span	4514	MT-CO3	ORPHA:550
HP:0000736	Short attention span	4578	MT-TW	ORPHA:550
HP:0000736	Short attention span	4540	MT-ND5	ORPHA:550
HP:0000736	Short attention span	4541	MT-ND6	ORPHA:550
HP:0000736	Short attention span	4535	MT-ND1	ORPHA:550
HP:0000736	Short attention span	4538	MT-ND4	ORPHA:550
HP:0000736	Short attention span	4567	MT-TL1	ORPHA:550
HP:0000736	Short attention span	4574	MT-TS1	ORPHA:550
HP:0000736	Short attention span	4575	MT-TS2	ORPHA:550
HP:0000736	Short attention span	4564	MT-TH	ORPHA:550
HP:0000736	Short attention span	339983	NAT8L	OMIM:614063
HP:0000736	Short attention span	5728	PTEN	OMIM:605309
HP:0000736	Short attention span	54914	FOCAD	OMIM:619991
HP:0000736	Short attention span	23345	SYNE1	ORPHA:88644
HP:0000736	Short attention span	123606	NIPA1	ORPHA:261183
HP:0000736	Short attention span	7283	TUBG1	ORPHA:261183
HP:0000736	Short attention span	81614	NIPA2	ORPHA:261183
HP:0000736	Short attention span	5063	PAK3	OMIM:300558
HP:0000736	Short attention span	54517	PUS7	OMIM:618342
HP:0000736	Short attention span	6711	SPTBN1	OMIM:619475
HP:0000736	Short attention span	1387	CREBBP	OMIM:180849
HP:0000736	Short attention span	2033	EP300	OMIM:180849
HP:0000736	Short attention span	1593	CYP27A1	ORPHA:909
HP:0000736	Short attention span	1213	CLTC	OMIM:617854
HP:0000736	Short attention span	27286	SRPX2	ORPHA:163721
HP:0000736	Short attention span	27286	SRPX2	ORPHA:1945
HP:0000736	Short attention span	2903	GRIN2A	ORPHA:163721
HP:0000736	Short attention span	2903	GRIN2A	ORPHA:1945
HP:0000736	Short attention span	2903	GRIN2A	ORPHA:98818
HP:0000736	Short attention span	11284	PNKP	ORPHA:459033
HP:0000736	Short attention span	8659	ALDH4A1	ORPHA:79101
HP:0000736	Short attention span	6335	SCN9A	ORPHA:33069
HP:0000736	Short attention span	6326	SCN2A	ORPHA:33069
HP:0000736	Short attention span	2554	GABRA1	ORPHA:33069
HP:0000736	Short attention span	6323	SCN1A	ORPHA:33069
HP:0000736	Short attention span	6324	SCN1B	ORPHA:33069
HP:0000736	Short attention span	57526	PCDH19	ORPHA:33069
HP:0000736	Short attention span	2566	GABRG2	ORPHA:33069
HP:0000736	Short attention span	2566	GABRG2	ORPHA:1945
HP:0000736	Short attention span	4125	MAN2B1	ORPHA:309282
HP:0000736	Short attention span	51218	GLRX5	ORPHA:401866
HP:0000736	Short attention span	27086	FOXP1	ORPHA:391372
HP:0000736	Short attention span	28514	DLL1	ORPHA:280195
HP:0000736	Short attention span	2253	FGF8	ORPHA:280195
HP:0000736	Short attention span	6496	SIX3	ORPHA:280195
HP:0000736	Short attention span	7050	TGIF1	ORPHA:280195
HP:0000736	Short attention span	4838	NODAL	ORPHA:280195
HP:0000736	Short attention span	6469	SHH	ORPHA:280195
HP:0000736	Short attention span	7546	ZIC2	ORPHA:280195
HP:0000736	Short attention span	6491	STIL	ORPHA:280195
HP:0000736	Short attention span	2619	GAS1	ORPHA:280195
HP:0000736	Short attention span	84976	DISP1	ORPHA:280195
HP:0000736	Short attention span	2736	GLI2	ORPHA:280195
HP:0000736	Short attention span	8928	FOXH1	ORPHA:280195
HP:0000736	Short attention span	5727	PTCH1	ORPHA:280195
HP:0000736	Short attention span	50937	CDON	ORPHA:280195
HP:0000736	Short attention span	5575	PRKAR1B	ORPHA:412066
HP:0000736	Short attention span	10157	AASS	ORPHA:2203
HP:0000736	Short attention span	10157	AASS	OMIM:238700
HP:0000736	Short attention span	2893	GRIA4	OMIM:617864
HP:0000736	Short attention span	79048	SECISBP2	ORPHA:171706
HP:0000736	Short attention span	10847	SRCAP	ORPHA:2044
HP:0000736	Short attention span	54862	CC2D1A	OMIM:608443
HP:0000736	Short attention span	51085	MLXIPL	OMIM:194050
HP:0000736	Short attention span	2006	ELN	OMIM:194050
HP:0000736	Short attention span	134218	DNAJC21	ORPHA:811
HP:0000736	Short attention span	79631	EFL1	ORPHA:811
HP:0000736	Short attention span	51119	SBDS	ORPHA:811
HP:0000736	Short attention span	6729	SRP54	ORPHA:811
HP:0000736	Short attention span	3423	IDS	ORPHA:217093
HP:0000736	Short attention span	410	ARSA	ORPHA:309271
HP:0000736	Short attention span	410	ARSA	ORPHA:309263
HP:0000736	Short attention span	5660	PSAP	ORPHA:309271
HP:0000736	Short attention span	5660	PSAP	ORPHA:309263
HP:0000736	Short attention span	7337	UBE3A	ORPHA:98794
HP:0000736	Short attention span	7337	UBE3A	ORPHA:411515
HP:0000736	Short attention span	4948	OCA2	ORPHA:98794
HP:0000736	Short attention span	4221	MEN1	ORPHA:652
HP:0000736	Short attention span	1027	CDKN1B	ORPHA:652
HP:0000736	Short attention span	1026	CDKN1A	ORPHA:652
HP:0000736	Short attention span	1030	CDKN2B	ORPHA:652
HP:0000736	Short attention span	1031	CDKN2C	ORPHA:652
HP:0000736	Short attention span	55777	MBD5	OMIM:156200
HP:0000736	Short attention span	7030	TFE3	OMIM:301066
HP:0000736	Short attention span	57551	TAOK1	OMIM:619575
HP:0000736	Short attention span	2332	FMR1	ORPHA:449291
HP:0000736	Short attention span	54496	PRMT7	OMIM:617157
HP:0000736	Short attention span	55084	SOBP	OMIM:613671
HP:0000736	Short attention span	215	ABCD1	ORPHA:139396
HP:0000736	Short attention span	9739	SETD1A	OMIM:619056
HP:0000736	Short attention span	80204	FBXO11	OMIM:618089
HP:0000736	Short attention span	10381	TUBB3	ORPHA:300570
HP:0000736	Short attention span	8398	PLA2G6	ORPHA:35069
HP:0000736	Short attention span	8398	PLA2G6	OMIM:610217
HP:0000736	Short attention span	549	AUH	OMIM:250950
HP:0000736	Short attention span	7080	NKX2-1	ORPHA:209905
HP:0000736	Short attention span	10079	ATP9A	OMIM:620242
HP:0000736	Short attention span	4914	NTRK1	ORPHA:642
HP:0000736	Short attention span	2898	GRIK2	OMIM:619580
HP:0000736	Short attention span	6595	SMARCA2	OMIM:601358
HP:0000736	Short attention span	191	AHCY	ORPHA:88618
HP:0000736	Short attention span	23309	SIN3B	ORPHA:500166
HP:0000736	Short attention span	25942	SIN3A	ORPHA:500166
HP:0000736	Short attention span	1760	DMPK	ORPHA:589821
HP:0000736	Short attention span	84274	COQ5	OMIM:619028
HP:0000736	Short attention span	4297	KMT2A	ORPHA:319182
HP:0000736	Short attention span	8802	SUCLG1	ORPHA:17
HP:0000736	Short attention span	23400	ATP13A2	ORPHA:306674
HP:0000736	Short attention span	867	CBL	OMIM:613563
HP:0000736	Short attention span	4281	MID1	ORPHA:2745
HP:0000736	Short attention span	80208	SPG11	ORPHA:2822
HP:0000736	Short attention span	5813	PURA	ORPHA:438216
HP:0000736	Short attention span	23230	VPS13A	ORPHA:2388
HP:0000736	Short attention span	6304	SATB1	OMIM:619229
HP:0000736	Short attention span	54832	VPS13C	ORPHA:2828
HP:0000736	Short attention span	11315	PARK7	ORPHA:2828
HP:0000736	Short attention span	7345	UCHL1	ORPHA:2828
HP:0000736	Short attention span	27429	HTRA2	ORPHA:2828
HP:0000736	Short attention span	120892	LRRK2	ORPHA:2828
HP:0000736	Short attention span	9829	DNAJC6	ORPHA:2828
HP:0000736	Short attention span	6622	SNCA	ORPHA:2828
HP:0000736	Short attention span	5420	PODXL	ORPHA:2828
HP:0000736	Short attention span	65018	PINK1	ORPHA:2828
HP:0000736	Short attention span	8867	SYNJ1	ORPHA:2828
HP:0000736	Short attention span	5071	PRKN	ORPHA:2828
HP:0000736	Short attention span	161742	SPRED1	ORPHA:137605
HP:0000736	Short attention span	6638	SNRPN	ORPHA:411515
HP:0000736	Short attention span	57194	ATP10A	ORPHA:411515
HP:0000736	Short attention span	4763	NF1	ORPHA:97685
HP:0000736	Short attention span	128	ADH5	OMIM:619151
HP:0000736	Short attention span	7528	YY1	ORPHA:506358
HP:0000736	Short attention span	7528	YY1	OMIM:617557
HP:0000736	Short attention span	25970	SH2B1	ORPHA:261222
HP:0000736	Short attention span	25970	SH2B1	ORPHA:261197
HP:0000736	Short attention span	8036	SHOC2	OMIM:607721
HP:0000736	Short attention span	6535	SLC6A8	OMIM:300352
HP:0000736	Short attention span	6513	SLC2A1	ORPHA:64280
HP:0000736	Short attention span	6513	SLC2A1	ORPHA:1942
HP:0000736	Short attention span	2562	GABRB3	ORPHA:64280
HP:0000736	Short attention span	2562	GABRB3	OMIM:617113
HP:0000736	Short attention span	8912	CACNA1H	ORPHA:64280
HP:0000736	Short attention span	8629	JRK	ORPHA:64280
HP:0000736	Short attention span	23394	ADNP	ORPHA:404448
HP:0000736	Short attention span	23394	ADNP	OMIM:615873
HP:0000736	Short attention span	26960	NBEA	OMIM:619157
HP:0000736	Short attention span	8367	H4C5	OMIM:619950
HP:0000736	Short attention span	1139	CHRNA7	ORPHA:199318
HP:0000736	Short attention span	1000	CDH2	OMIM:619957
HP:0000736	Short attention span	1000	CDH2	OMIM:618929
HP:0000736	Short attention span	1024	CDK8	OMIM:618748
HP:0000736	Short attention span	775	CACNA1C	OMIM:620029
HP:0000736	Short attention span	91801	ALKBH8	OMIM:618504
HP:0000736	Short attention span	7068	THRB	OMIM:274300
HP:0000736	Short attention span	7068	THRB	OMIM:188570
HP:0000736	Short attention span	118987	PDZD8	OMIM:620021
HP:0000736	Short attention span	64324	NSD1	ORPHA:821
HP:0000736	Short attention span	64324	NSD1	OMIM:117550
HP:0000736	Short attention span	29072	SETD2	ORPHA:821
HP:0000736	Short attention span	10297	APC2	ORPHA:821
HP:0000736	Short attention span	55209	SETD5	ORPHA:404440
HP:0000736	Short attention span	10093	ARPC4	OMIM:620141
HP:0000736	Short attention span	6687	SPG7	ORPHA:99013
HP:0000736	Short attention span	4072	EPCAM	ORPHA:144
HP:0000736	Short attention span	4292	MLH1	ORPHA:144
HP:0000736	Short attention span	5395	PMS2	ORPHA:144
HP:0000736	Short attention span	27030	MLH3	ORPHA:144
HP:0000736	Short attention span	22909	FAN1	ORPHA:144
HP:0000736	Short attention span	7048	TGFBR2	ORPHA:144
HP:0000736	Short attention span	3845	KRAS	ORPHA:144
HP:0000736	Short attention span	5290	PIK3CA	ORPHA:144
HP:0000736	Short attention span	2956	MSH6	ORPHA:144
HP:0000736	Short attention span	5378	PMS1	ORPHA:144
HP:0000736	Short attention span	4436	MSH2	ORPHA:144
HP:0000736	Short attention span	49855	SCAPER	OMIM:618195
HP:0000736	Short attention span	4774	NFIA	ORPHA:401986
HP:0000736	Short attention span	116931	MED12L	OMIM:618872
HP:0000736	Short attention span	3199	HOXA2	ORPHA:83463
HP:0000736	Short attention span	9578	CDC42BPB	OMIM:619841
HP:0000736	Short attention span	613	BCR	ORPHA:261330
HP:0000736	Short attention span	1399	CRKL	ORPHA:261330
HP:0000736	Short attention span	5594	MAPK1	ORPHA:261330
HP:0000736	Short attention span	5594	MAPK1	OMIM:619087
HP:0000736	Short attention span	55790	CSGALNACT1	OMIM:618870
HP:0000736	Short attention span	64218	SEMA4A	ORPHA:440437
HP:0000736	Short attention span	657	BMPR1A	ORPHA:440437
HP:0000736	Short attention span	6224	RPS20	ORPHA:440437
HP:0000736	Short attention span	477	ATP1A2	OMIM:619605
HP:0000736	Short attention span	477	ATP1A2	ORPHA:442835
HP:0000736	Short attention span	51111	KMT5B	OMIM:617788
HP:0000736	Short attention span	80155	NAA15	OMIM:617787
HP:0000736	Short attention span	7532	YWHAG	OMIM:617665
HP:0000736	Short attention span	7532	YWHAG	ORPHA:442835
HP:0000736	Short attention span	10730	YME1L1	OMIM:617302
HP:0000736	Short attention span	5159	PDGFRB	OMIM:615007
HP:0000736	Short attention span	2314	FLII	ORPHA:819
HP:0000736	Short attention span	23096	IQSEC2	ORPHA:819
HP:0000736	Short attention span	10743	RAI1	ORPHA:819
HP:0000736	Short attention span	10743	RAI1	ORPHA:1713
HP:0000736	Short attention span	10522	DEAF1	ORPHA:819
HP:0000736	Short attention span	5689	PSMB1	OMIM:620038
HP:0000736	Short attention span	27102	EIF2AK1	OMIM:618878
HP:0000736	Short attention span	1717	DHCR7	ORPHA:818
HP:0000736	Short attention span	3781	KCNN2	OMIM:619725
HP:0000736	Short attention span	7086	TKT	ORPHA:488618
HP:0000736	Short attention span	7086	TKT	OMIM:617044
HP:0000736	Short attention span	55636	CHD7	ORPHA:138
HP:0000736	Short attention span	9723	SEMA3E	ORPHA:138
HP:0000736	Short attention span	7252	TSHB	ORPHA:90674
HP:0000736	Short attention span	6660	SOX5	ORPHA:313892
HP:0000736	Short attention span	57589	RIC1	OMIM:618761
HP:0000736	Short attention span	535	ATP6V0A1	OMIM:619971
HP:0000736	Short attention span	3190	HNRNPK	OMIM:616580
HP:0000736	Short attention span	284058	KANSL1	ORPHA:363958
HP:0000736	Short attention span	284058	KANSL1	ORPHA:363965
HP:0000736	Short attention span	347733	TUBB2B	ORPHA:300573
HP:0000736	Short attention span	347733	TUBB2B	ORPHA:467166
HP:0000736	Short attention span	340024	SLC6A19	OMIM:234500
HP:0000736	Short attention span	9968	MED12	ORPHA:93932
HP:0000736	Short attention span	9968	MED12	OMIM:305450
HP:0000736	Short attention span	9968	MED12	ORPHA:776
HP:0000736	Short attention span	51319	RSRC1	OMIM:618402
HP:0000736	Short attention span	412	STS	ORPHA:281090
HP:0000736	Short attention span	412	STS	ORPHA:461
HP:0000736	Short attention span	1009	CDH11	OMIM:619736
HP:0000736	Short attention span	3973	LHCGR	ORPHA:3000
HP:0000736	Short attention span	2626	GATA4	ORPHA:251071
HP:0000736	Short attention span	6899	TBX1	OMIM:188400
HP:0000736	Short attention span	6899	TBX1	ORPHA:1727
HP:0000736	Short attention span	6899	TBX1	ORPHA:567
HP:0000736	Short attention span	26053	AUTS2	ORPHA:352490
HP:0000736	Short attention span	833	CARS1	OMIM:618891
HP:0000736	Short attention span	23036	ZNF292	OMIM:619188
HP:0000736	Short attention span	57178	ZMIZ1	OMIM:618659
HP:0000736	Short attention span	2260	FGFR1	ORPHA:93924
HP:0000736	Short attention span	2260	FGFR1	ORPHA:220386
HP:0000736	Short attention span	26057	ANKRD17	OMIM:619504
HP:0000736	Short attention span	23007	PLCH1	ORPHA:93925
HP:0000736	Short attention span	10735	STAG2	ORPHA:93925
HP:0000736	Short attention span	10735	STAG2	OMIM:301022
HP:0000736	Short attention span	10735	STAG2	ORPHA:220386
HP:0000736	Short attention span	3737	KCNA2	ORPHA:442835
HP:0000736	Short attention span	1759	DNM1	ORPHA:442835
HP:0000736	Short attention span	8120	AP3B2	ORPHA:442835
HP:0000736	Short attention span	523	ATP6V1A	ORPHA:442835
HP:0000736	Short attention span	10991	SLC38A3	ORPHA:442835
HP:0000736	Short attention span	51343	FZR1	ORPHA:442835
HP:0000736	Short attention span	22906	TRAK1	ORPHA:442835
HP:0000736	Short attention span	1917	EEF1A2	ORPHA:442835
HP:0000736	Short attention span	2561	GABRB2	ORPHA:442835
HP:0000736	Short attention span	8831	SYNGAP1	ORPHA:442835
HP:0000736	Short attention span	8831	SYNGAP1	ORPHA:1942
HP:0000736	Short attention span	79876	UBA5	ORPHA:442835
HP:0000736	Short attention span	6328	SCN3A	ORPHA:442835
HP:0000736	Short attention span	6328	SCN3A	OMIM:617935
HP:0000736	Short attention span	2558	GABRA5	ORPHA:442835
HP:0000736	Short attention span	781	CACNA2D1	ORPHA:442835
HP:0000736	Short attention span	2906	GRIN2D	ORPHA:442835
HP:0000736	Short attention span	116150	NUS1	ORPHA:442835
HP:0000736	Short attention span	10659	CELF2	ORPHA:442835
HP:0000736	Short attention span	774	CACNA1B	ORPHA:442835
HP:0000736	Short attention span	51741	WWOX	ORPHA:442835
HP:0000736	Short attention span	23334	SZT2	ORPHA:442835
HP:0000736	Short attention span	51412	ACTL6B	ORPHA:442835
HP:0000736	Short attention span	348980	HCN1	ORPHA:442835
HP:0000736	Short attention span	348980	HCN1	OMIM:615871
HP:0000736	Short attention span	6506	SLC1A2	ORPHA:442835
HP:0000736	Short attention span	2258	FGF13	ORPHA:442835
HP:0000736	Short attention span	3745	KCNB1	ORPHA:442835
HP:0000736	Short attention span	284111	SLC13A5	ORPHA:442835
HP:0000736	Short attention span	25977	NECAP1	ORPHA:442835
HP:0000736	Short attention span	16	AARS1	ORPHA:442835
HP:0000736	Short attention span	6334	SCN8A	ORPHA:442835
HP:0000736	Short attention span	6334	SCN8A	OMIM:614306
HP:0000736	Short attention span	22866	CNKSR2	ORPHA:442835
HP:0000736	Short attention span	22866	CNKSR2	OMIM:301008
HP:0000736	Short attention span	9568	GABBR2	ORPHA:442835
HP:0000736	Short attention span	2555	GABRA2	ORPHA:442835
HP:0000736	Short attention span	55152	DALRD3	ORPHA:442835
HP:0000736	Short attention span	773	CACNA1A	ORPHA:442835
HP:0000736	Short attention span	26999	CYFIP2	ORPHA:442835
HP:0000736	Short attention span	4915	NTRK2	ORPHA:442835
HP:0000736	Short attention span	25973	PARS2	ORPHA:442835
HP:0000736	Short attention span	23097	CDK19	ORPHA:442835
HP:0000736	Short attention span	64801	ARV1	ORPHA:442835
HP:0000736	Short attention span	79947	DHDDS	ORPHA:442835
HP:0000736	Short attention span	2257	FGF12	ORPHA:442835
HP:0000736	Short attention span	5530	PPP3CA	ORPHA:442835
HP:0000736	Short attention span	478	ATP1A3	ORPHA:442835
HP:0000736	Short attention span	10528	NOP56	ORPHA:276198
HP:0000736	Short attention span	3981	LIG4	ORPHA:235
HP:0000736	Short attention span	54888	NSUN2	ORPHA:235
HP:0000736	Short attention span	4953	ODC1	OMIM:619075
HP:0000736	Short attention span	4953	ODC1	ORPHA:544488
HP:0000736	Short attention span	2746	GLUD1	ORPHA:35878
HP:0000736	Short attention span	30011	SH3KBP1	OMIM:300310
HP:0000736	Short attention span	84138	SLC7A6OS	OMIM:619191
HP:0000736	Short attention span	7025	NR2F1	ORPHA:401777
HP:0000736	Short attention span	8493	PPM1D	OMIM:617450
HP:0000736	Short attention span	26038	CHD5	OMIM:619873
HP:0000736	Short attention span	29081	METTL5	OMIM:618665
HP:0000736	Short attention span	55773	TBC1D23	OMIM:617695
HP:0000736	Short attention span	9354	UBE4A	OMIM:619639
HP:0000736	Short attention span	6804	STX1A	ORPHA:904
HP:0000736	Short attention span	7461	CLIP2	ORPHA:904
HP:0000736	Short attention span	84277	DNAJC30	ORPHA:904
HP:0000736	Short attention span	8468	FKBP6	ORPHA:904
HP:0000736	Short attention span	5982	RFC2	ORPHA:904
HP:0000736	Short attention span	2969	GTF2I	ORPHA:904
HP:0000736	Short attention span	3984	LIMK1	ORPHA:904
HP:0000736	Short attention span	9569	GTF2IRD1	ORPHA:904
HP:0000736	Short attention span	155382	VPS37D	ORPHA:904
HP:0000736	Short attention span	155368	METTL27	ORPHA:904
HP:0000736	Short attention span	114049	BUD23	ORPHA:904
HP:0000736	Short attention span	7458	EIF4H	ORPHA:904
HP:0000736	Short attention span	84163	GTF2IRD2	ORPHA:904
HP:0000736	Short attention span	9275	BCL7B	ORPHA:904
HP:0000736	Short attention span	26608	TBL2	ORPHA:904
HP:0000736	Short attention span	653361	NCF1	ORPHA:904
HP:0000736	Short attention span	135886	TMEM270	ORPHA:904
HP:0000736	Short attention span	9031	BAZ1B	ORPHA:904
HP:0000736	Short attention span	54499	TMCO1	OMIM:213980
HP:0000736	Short attention span	22859	ADGRL1	OMIM:620065
HP:0000736	Short attention span	1859	DYRK1A	ORPHA:464311
HP:0000736	Short attention span	55719	SLF2	OMIM:620184
HP:0000736	Short attention span	23137	SMC5	OMIM:620185
HP:0000736	Short attention span	8517	IKBKG	ORPHA:464
HP:0000736	Short attention span	10236	HNRNPR	OMIM:620073
HP:0000736	Short attention span	26137	ZBTB20	OMIM:259050
HP:0000736	Short attention span	2312	FLG	ORPHA:461
HP:0000736	Short attention span	8314	BAP1	OMIM:619762
HP:0000736	Short attention span	7750	ZMYM2	OMIM:619522
HP:0000736	Short attention span	3481	IGF2	ORPHA:397590
HP:0000736	Short attention span	1028	CDKN1C	ORPHA:397590
HP:0000736	Short attention span	5324	PLAG1	ORPHA:397590
HP:0000736	Short attention span	8091	HMGA2	ORPHA:397590
HP:0000736	Short attention span	23261	CAMTA1	OMIM:614756
HP:0000736	Short attention span	200424	TET3	OMIM:618798
HP:0000736	Short attention span	7248	TSC1	OMIM:191100
HP:0000736	Short attention span	7248	TSC1	ORPHA:805
HP:0000736	Short attention span	5422	POLA1	ORPHA:163976
HP:0000736	Short attention span	5422	POLA1	OMIM:301030
HP:0000736	Short attention span	23314	SATB2	ORPHA:576283
HP:0000736	Short attention span	23314	SATB2	ORPHA:251019
HP:0000736	Short attention span	51322	WAC	ORPHA:284169
HP:0000736	Short attention span	51322	WAC	OMIM:616708
HP:0000736	Short attention span	51322	WAC	ORPHA:466950
HP:0000736	Short attention span	55120	FANCL	OMIM:614083
HP:0000736	Short attention span	9922	IQSEC1	OMIM:618687
HP:0000736	Short attention span	26047	CNTNAP2	OMIM:610042
HP:0000736	Short attention span	57479	PRR12	OMIM:619539
HP:0000736	Short attention span	9928	KIF14	OMIM:617914
HP:0000736	Short attention span	3458	IFNG	ORPHA:805
HP:0000736	Short attention span	3458	IFNG	OMIM:613254
HP:0000736	Short attention span	7249	TSC2	ORPHA:805
HP:0000736	Short attention span	7249	TSC2	OMIM:613254
HP:0000736	Short attention span	1107	CHD3	OMIM:618205
HP:0000736	Short attention span	3339	HSPG2	ORPHA:800
HP:0000736	Short attention span	1173	AP2M1	ORPHA:1942
HP:0000736	Short attention span	340533	NEXMIF	ORPHA:1942
HP:0000736	Short attention span	1106	CHD2	ORPHA:1942
HP:0000736	Short attention span	6529	SLC6A1	ORPHA:1942
HP:0000736	Short attention span	6529	SLC6A1	OMIM:616421
HP:0000736	Short attention span	2776	GNAQ	ORPHA:3205
HP:0000736	Short attention span	55023	PHIP	ORPHA:589905
HP:0000736	Short attention span	55023	PHIP	OMIM:617991
HP:0000736	Short attention span	29123	ANKRD11	OMIM:148050
HP:0000736	Short attention span	80025	PANK2	ORPHA:216866
HP:0000736	Short attention span	5587	PRKD1	OMIM:617364
HP:0000736	Short attention span	2245	FGD1	ORPHA:915
HP:0000736	Short attention span	2245	FGD1	OMIM:305400
HP:0000736	Short attention span	1642	DDB1	OMIM:619426
HP:0000736	Short attention span	63895	PIEZO2	ORPHA:2461
HP:0000736	Short attention span	196528	ARID2	OMIM:617808
HP:0000736	Short attention span	1801	DPH1	ORPHA:459061
HP:0000736	Short attention span	3720	JARID2	OMIM:620098
HP:0000736	Short attention span	6492	SIM1	ORPHA:369873
HP:0000736	Short attention span	6909	TBX2	OMIM:618223
HP:0000736	Short attention span	23013	SPEN	OMIM:619312
HP:0000736	Short attention span	30000	TNPO2	OMIM:619556
HP:0000736	Short attention span	57102	C12orf4	OMIM:618221
HP:0000736	Short attention span	9759	HDAC4	ORPHA:1001
HP:0000736	Short attention span	3067	HDC	OMIM:137580
HP:0000736	Short attention span	114798	SLITRK1	OMIM:137580
HP:0000736	Short attention span	26115	TANC2	OMIM:618906
HP:0000736	Short attention span	7681	MKRN3	OMIM:176270
HP:0000736	Short attention span	3653	IPW	OMIM:176270
HP:0000736	Short attention span	54551	MAGEL2	OMIM:176270
HP:0000736	Short attention span	791114	PWRN1	OMIM:176270
HP:0000736	Short attention span	100033413	SNORD116-1	OMIM:176270
HP:0000736	Short attention span	8924	HERC2	OMIM:176270
HP:0000736	Short attention span	145624	PWAR1	OMIM:176270
HP:0000736	Short attention span	23742	NPAP1	OMIM:176270
HP:0000736	Short attention span	338433	SNORD115-1	OMIM:176270
HP:0000736	Short attention span	2581	GALC	ORPHA:206443
HP:0000736	Short attention span	5515	PPP2CA	OMIM:618354
HP:0000736	Short attention span	56521	DNAJC12	OMIM:617384
HP:0000736	Short attention span	55262	TRAPPC14	OMIM:618351
HP:0000736	Short attention span	23030	KDM4B	OMIM:619320
HP:0000736	Short attention span	473	RERE	OMIM:616975
HP:0000736	Short attention span	473	RERE	ORPHA:494344
HP:0000736	Short attention span	11151	CORO1A	OMIM:615401
HP:0000736	Short attention span	2782	GNB1	OMIM:616973
HP:0000736	Short attention span	23043	TNIK	OMIM:617028
HP:0000736	Short attention span	55784	MCTP2	ORPHA:1596
HP:0000736	Short attention span	5053	PAH	OMIM:261600
HP:0000736	Short attention span	5053	PAH	ORPHA:79254
HP:0000736	Short attention span	1815	DRD4	OMIM:143465
HP:0000736	Short attention span	1816	DRD5	OMIM:143465
HP:0000736	Short attention span	51114	ZDHHC9	ORPHA:776
HP:0000736	Short attention span	65109	UPF3B	ORPHA:776
HP:0000736	Short attention span	4952	OCRL	ORPHA:534
HP:0000736	Short attention span	4131	MAP1B	OMIM:618918
HP:0000736	Short attention span	84679	SLC9A7	OMIM:301024
HP:0000736	Short attention span	2592	GALT	ORPHA:79239
HP:0000736	Short attention span	1741	DLG3	OMIM:300850
HP:0000736	Short attention span	7846	TUBA1A	ORPHA:467166
HP:0000736	Short attention span	6609	SMPD1	ORPHA:77293
HP:0000736	Short attention span	63035	BCORL1	OMIM:301029
HP:0000736	Short attention span	9969	MED13	OMIM:618009
HP:0000736	Short attention span	1312	COMT	ORPHA:567
HP:0000736	Short attention span	221037	JMJD1C	ORPHA:567
HP:0000736	Short attention span	2812	GP1BB	ORPHA:567
HP:0000736	Short attention span	6239	RREB1	ORPHA:567
HP:0000736	Short attention span	7290	HIRA	ORPHA:567
HP:0000736	Short attention span	9632	SEC24C	ORPHA:567
HP:0000736	Short attention span	7353	UFD1	ORPHA:567
HP:0000736	Short attention span	421	ARVCF	ORPHA:567
HP:0000736	Short attention span	5582	PRKCG	OMIM:605361
HP:0000736	Short attention span	51185	CRBN	OMIM:607417
HP:0000736	Short attention span	1137	CHRNA4	ORPHA:98784
HP:0000736	Short attention span	1135	CHRNA2	ORPHA:98784
HP:0000736	Short attention span	57010	CABP4	ORPHA:98784
HP:0000736	Short attention span	1141	CHRNB2	ORPHA:98784
HP:0000736	Short attention span	57582	KCNT1	ORPHA:98784
HP:0000736	Short attention span	1392	CRH	ORPHA:98784
HP:0000736	Short attention span	9681	DEPDC5	ORPHA:98784
HP:0000736	Short attention span	7703	PCGF2	OMIM:618371
HP:0000736	Short attention span	1781	DYNC1I2	OMIM:618492
HP:0000736	Short attention span	6907	TBL1X	OMIM:301033
HP:0000736	Short attention span	10524	KAT5	OMIM:619103
HP:0000736	Short attention span	79576	NKAP	OMIM:301039
HP:0000736	Short attention span	26040	SETBP1	OMIM:616078
HP:0000736	Short attention span	3188	HNRNPH2	OMIM:300986
HP:0000736	Short attention span	23152	CIC	OMIM:617600
HP:0000736	Short attention span	121278	TPH2	OMIM:613003
HP:0000736	Short attention span	51729	WBP11	OMIM:619227
HP:0000736	Short attention span	55186	SLC25A36	OMIM:620211
HP:0000736	Short attention span	2313	FLI1	ORPHA:2308
HP:0000736	Short attention span	7074	TIAM1	OMIM:619908
HP:0000736	Short attention span	23476	BRD4	ORPHA:199
HP:0000736	Short attention span	9126	SMC3	ORPHA:199
HP:0000736	Short attention span	8243	SMC1A	ORPHA:199
HP:0000736	Short attention span	8243	SMC1A	ORPHA:220386
HP:0000736	Short attention span	25836	NIPBL	ORPHA:199
HP:0000736	Short attention span	55869	HDAC8	ORPHA:199
HP:0000736	Short attention span	5885	RAD21	ORPHA:199
HP:0000736	Short attention span	9757	KMT2B	ORPHA:589618
HP:0000736	Short attention span	9757	KMT2B	OMIM:619934
HP:0000736	Short attention span	7874	USP7	ORPHA:500055
HP:0000736	Short attention span	139411	PTCHD1	OMIM:300830
HP:0000736	Short attention span	7204	TRIO	OMIM:618825
HP:0000736	Short attention span	7204	TRIO	OMIM:617061
HP:0000736	Short attention span	7204	TRIO	ORPHA:476126
HP:0000736	Short attention span	55526	DHTKD1	OMIM:204750
HP:0000736	Short attention span	4659	PPP1R12A	OMIM:618820
HP:0000736	Short attention span	3839	KPNA3	OMIM:620106
HP:0000736	Short attention span	4983	OPHN1	ORPHA:137831
HP:0000736	Short attention span	63932	STEEP1	OMIM:301013
HP:0000736	Short attention span	1457	CSNK2A1	OMIM:617062
HP:0000736	Short attention span	10681	GNB5	OMIM:617182
HP:0000736	Short attention span	6872	TAF1	OMIM:300966
HP:0000736	Short attention span	8567	MADD	OMIM:619005
HP:0000736	Short attention span	22871	NLGN1	OMIM:618830
HP:0000736	Short attention span	6472	SHMT2	OMIM:619121
HP:0000736	Short attention span	23112	TNRC6B	OMIM:619243
HP:0000736	Short attention span	81562	LMAN2L	OMIM:617863
HP:0000736	Short attention span	2890	GRIA1	OMIM:619927
HP:0000736	Short attention span	51473	DCDC2	ORPHA:84081
HP:0000736	Short attention span	91147	TMEM67	ORPHA:84081
HP:0000736	Short attention span	259266	ASPM	OMIM:608716
HP:0000736	Short attention span	2177	FANCD2	OMIM:227646
HP:0000736	Short attention span	3739	KCNA4	OMIM:618284
HP:0000736	Short attention span	10020	GNE	OMIM:269921
HP:0000736	Short attention span	10020	GNE	ORPHA:3166
HP:0000736	Short attention span	4781	NFIB	OMIM:618286
HP:0000736	Short attention span	51780	KDM3B	OMIM:618846
HP:0000736	Short attention span	51317	PHF21A	OMIM:618725
HP:0000736	Short attention span	5116	PCNT	ORPHA:2637
HP:0000736	Short attention span	203190	LGI3	OMIM:620007
HP:0000736	Short attention span	4683	NBN	ORPHA:647
HP:0000736	Short attention span	4693	NDP	ORPHA:649
HP:0000736	Short attention span	11011	TLK2	OMIM:618050
HP:0000736	Short attention span	1678	TIMM8A	ORPHA:52368
HP:0000736	Short attention span	129285	PPP1R21	OMIM:619383
HP:0000736	Short attention span	55553	SOX6	OMIM:618971
HP:0000736	Short attention span	27161	AGO2	OMIM:619149
HP:0000736	Short attention span	3832	KIF11	OMIM:152950
HP:0000736	Short attention span	2261	FGFR3	OMIM:602849
HP:0000736	Short attention span	55367	PIDD1	OMIM:619827
HP:0000736	Short attention span	84148	KAT8	OMIM:618974
HP:0000736	Short attention span	64682	ANAPC1	ORPHA:221008
HP:0000737	Irritability	9131	AIFM1	ORPHA:238329
HP:0000737	Irritability	9131	AIFM1	OMIM:300816
HP:0000737	Irritability	5621	PRNP	ORPHA:282166
HP:0000737	Irritability	5621	PRNP	OMIM:123400
HP:0000737	Irritability	3064	HTT	ORPHA:399
HP:0000737	Irritability	3064	HTT	ORPHA:248111
HP:0000737	Irritability	6515	SLC2A3	ORPHA:399
HP:0000737	Irritability	51126	NAA20	OMIM:619717
HP:0000737	Irritability	5009	OTC	OMIM:311250
HP:0000737	Irritability	4897	NRCAM	OMIM:619833
HP:0000737	Irritability	2731	GLDC	OMIM:605899
HP:0000737	Irritability	275	AMT	OMIM:605899
HP:0000737	Irritability	4072	EPCAM	ORPHA:144
HP:0000737	Irritability	4072	EPCAM	ORPHA:92050
HP:0000737	Irritability	4292	MLH1	ORPHA:144
HP:0000737	Irritability	5395	PMS2	ORPHA:144
HP:0000737	Irritability	27030	MLH3	ORPHA:144
HP:0000737	Irritability	22909	FAN1	ORPHA:144
HP:0000737	Irritability	7048	TGFBR2	ORPHA:144
HP:0000737	Irritability	3845	KRAS	ORPHA:144
HP:0000737	Irritability	5290	PIK3CA	ORPHA:144
HP:0000737	Irritability	2956	MSH6	ORPHA:144
HP:0000737	Irritability	5378	PMS1	ORPHA:144
HP:0000737	Irritability	4436	MSH2	ORPHA:144
HP:0000737	Irritability	4784	NFIX	ORPHA:447980
HP:0000737	Irritability	51218	GLRX5	ORPHA:401866
HP:0000737	Irritability	6531	SLC6A3	ORPHA:238455
HP:0000737	Irritability	249	ALPL	OMIM:241500
HP:0000737	Irritability	51506	UFC1	OMIM:618076
HP:0000737	Irritability	644096	SDHAF1	OMIM:619166
HP:0000737	Irritability	644096	SDHAF1	ORPHA:3208
HP:0000737	Irritability	64218	SEMA4A	ORPHA:440437
HP:0000737	Irritability	657	BMPR1A	ORPHA:440437
HP:0000737	Irritability	6224	RPS20	ORPHA:440437
HP:0000737	Irritability	6487	ST3GAL3	OMIM:615006
HP:0000737	Irritability	3141	HLCS	OMIM:253270
HP:0000737	Irritability	3141	HLCS	ORPHA:79242
HP:0000737	Irritability	271	AMPD2	OMIM:615809
HP:0000737	Irritability	105371045	PERCC1	ORPHA:92050
HP:0000737	Irritability	25839	COG4	ORPHA:263501
HP:0000737	Irritability	25839	COG4	OMIM:613489
HP:0000737	Irritability	55687	TRMU	OMIM:613070
HP:0000737	Irritability	55870	ASH1L	OMIM:617796
HP:0000737	Irritability	103	ADAR	OMIM:615010
HP:0000737	Irritability	103	ADAR	ORPHA:51
HP:0000737	Irritability	816	CAMK2B	OMIM:617799
HP:0000737	Irritability	7084	TK2	OMIM:609560
HP:0000737	Irritability	815	CAMK2A	OMIM:617798
HP:0000737	Irritability	2055	CLN8	OMIM:610003
HP:0000737	Irritability	501	ALDH7A1	ORPHA:3006
HP:0000737	Irritability	11212	PLPBP	ORPHA:3006
HP:0000737	Irritability	11212	PLPBP	OMIM:617290
HP:0000737	Irritability	84133	ZNRF3	ORPHA:1501
HP:0000737	Irritability	7157	TP53	ORPHA:1501
HP:0000737	Irritability	5573	PRKAR1A	ORPHA:1501
HP:0000737	Irritability	1499	CTNNB1	ORPHA:1501
HP:0000737	Irritability	1029	CDKN2A	ORPHA:1501
HP:0000737	Irritability	7015	TERT	ORPHA:1501
HP:0000737	Irritability	10273	STUB1	OMIM:618093
HP:0000737	Irritability	1594	CYP27B1	OMIM:264700
HP:0000737	Irritability	1594	CYP27B1	ORPHA:289157
HP:0000737	Irritability	8789	FBP2	OMIM:619864
HP:0000737	Irritability	833	CARS1	OMIM:618891
HP:0000737	Irritability	1641	DCX	ORPHA:2148
HP:0000737	Irritability	23230	VPS13A	ORPHA:2388
HP:0000737	Irritability	28514	DLL1	ORPHA:93926
HP:0000737	Irritability	28514	DLL1	ORPHA:93924
HP:0000737	Irritability	28514	DLL1	ORPHA:93925
HP:0000737	Irritability	28514	DLL1	ORPHA:220386
HP:0000737	Irritability	2253	FGF8	ORPHA:93926
HP:0000737	Irritability	2253	FGF8	ORPHA:93924
HP:0000737	Irritability	2253	FGF8	ORPHA:93925
HP:0000737	Irritability	2253	FGF8	ORPHA:220386
HP:0000737	Irritability	6496	SIX3	ORPHA:93926
HP:0000737	Irritability	6496	SIX3	ORPHA:93924
HP:0000737	Irritability	6496	SIX3	ORPHA:93925
HP:0000737	Irritability	6496	SIX3	ORPHA:220386
HP:0000737	Irritability	7050	TGIF1	ORPHA:93926
HP:0000737	Irritability	7050	TGIF1	ORPHA:93924
HP:0000737	Irritability	7050	TGIF1	ORPHA:93925
HP:0000737	Irritability	7050	TGIF1	ORPHA:220386
HP:0000737	Irritability	4838	NODAL	ORPHA:93926
HP:0000737	Irritability	4838	NODAL	ORPHA:93924
HP:0000737	Irritability	4838	NODAL	ORPHA:93925
HP:0000737	Irritability	4838	NODAL	ORPHA:220386
HP:0000737	Irritability	6469	SHH	ORPHA:93926
HP:0000737	Irritability	6469	SHH	ORPHA:93924
HP:0000737	Irritability	6469	SHH	ORPHA:93925
HP:0000737	Irritability	6469	SHH	ORPHA:220386
HP:0000737	Irritability	7546	ZIC2	ORPHA:93926
HP:0000737	Irritability	7546	ZIC2	ORPHA:93924
HP:0000737	Irritability	7546	ZIC2	ORPHA:93925
HP:0000737	Irritability	7546	ZIC2	ORPHA:220386
HP:0000737	Irritability	6491	STIL	ORPHA:93926
HP:0000737	Irritability	6491	STIL	ORPHA:93924
HP:0000737	Irritability	6491	STIL	ORPHA:93925
HP:0000737	Irritability	6491	STIL	ORPHA:220386
HP:0000737	Irritability	2619	GAS1	ORPHA:93926
HP:0000737	Irritability	2619	GAS1	ORPHA:93924
HP:0000737	Irritability	2619	GAS1	ORPHA:93925
HP:0000737	Irritability	2619	GAS1	ORPHA:220386
HP:0000737	Irritability	84976	DISP1	ORPHA:93926
HP:0000737	Irritability	84976	DISP1	ORPHA:93924
HP:0000737	Irritability	84976	DISP1	ORPHA:93925
HP:0000737	Irritability	84976	DISP1	ORPHA:220386
HP:0000737	Irritability	2736	GLI2	ORPHA:93926
HP:0000737	Irritability	2736	GLI2	ORPHA:93924
HP:0000737	Irritability	2736	GLI2	ORPHA:93925
HP:0000737	Irritability	2736	GLI2	ORPHA:220386
HP:0000737	Irritability	8928	FOXH1	ORPHA:93926
HP:0000737	Irritability	8928	FOXH1	ORPHA:93924
HP:0000737	Irritability	8928	FOXH1	ORPHA:93925
HP:0000737	Irritability	8928	FOXH1	ORPHA:220386
HP:0000737	Irritability	5727	PTCH1	ORPHA:93926
HP:0000737	Irritability	5727	PTCH1	ORPHA:93924
HP:0000737	Irritability	5727	PTCH1	ORPHA:93925
HP:0000737	Irritability	5727	PTCH1	ORPHA:220386
HP:0000737	Irritability	50937	CDON	ORPHA:93926
HP:0000737	Irritability	50937	CDON	ORPHA:93924
HP:0000737	Irritability	50937	CDON	ORPHA:93925
HP:0000737	Irritability	50937	CDON	ORPHA:220386
HP:0000737	Irritability	4338	MOCS2	OMIM:252160
HP:0000737	Irritability	2260	FGFR1	ORPHA:93924
HP:0000737	Irritability	2260	FGFR1	ORPHA:220386
HP:0000737	Irritability	113235	SLC46A1	OMIM:229050
HP:0000737	Irritability	23007	PLCH1	ORPHA:93925
HP:0000737	Irritability	10735	STAG2	ORPHA:93925
HP:0000737	Irritability	10735	STAG2	ORPHA:220386
HP:0000737	Irritability	6513	SLC2A1	ORPHA:98811
HP:0000737	Irritability	6513	SLC2A1	OMIM:612126
HP:0000737	Irritability	112476	PRRT2	ORPHA:98811
HP:0000737	Irritability	788	SLC25A20	ORPHA:159
HP:0000737	Irritability	788	SLC25A20	OMIM:212138
HP:0000737	Irritability	5654	HTRA1	ORPHA:199354
HP:0000737	Irritability	1267	CNP	OMIM:619071
HP:0000737	Irritability	3043	HBB	ORPHA:231214
HP:0000737	Irritability	3043	HBB	ORPHA:231226
HP:0000737	Irritability	149371	EXOC8	OMIM:619076
HP:0000737	Irritability	23126	POGZ	OMIM:616364
HP:0000737	Irritability	120227	CYP2R1	ORPHA:289157
HP:0000737	Irritability	54914	FOCAD	OMIM:619991
HP:0000737	Irritability	4137	MAPT	OMIM:172700
HP:0000737	Irritability	4137	MAPT	OMIM:600274
HP:0000737	Irritability	4137	MAPT	OMIM:601104
HP:0000737	Irritability	4137	MAPT	ORPHA:275864
HP:0000737	Irritability	5663	PSEN1	OMIM:172700
HP:0000737	Irritability	5663	PSEN1	OMIM:600274
HP:0000737	Irritability	5663	PSEN1	ORPHA:275864
HP:0000737	Irritability	2643	GCH1	OMIM:233910
HP:0000737	Irritability	80704	SLC19A3	OMIM:607483
HP:0000737	Irritability	80704	SLC19A3	ORPHA:263410
HP:0000737	Irritability	6609	SMPD1	OMIM:257200
HP:0000737	Irritability	2203	FBP1	ORPHA:348
HP:0000737	Irritability	2203	FBP1	OMIM:229700
HP:0000737	Irritability	5551	PRF1	OMIM:603553
HP:0000737	Irritability	79796	ALG9	ORPHA:79328
HP:0000737	Irritability	1615	DARS1	OMIM:615281
HP:0000737	Irritability	554	AVPR2	OMIM:304800
HP:0000737	Irritability	554	AVPR2	OMIM:300539
HP:0000737	Irritability	6506	SLC1A2	OMIM:617105
HP:0000737	Irritability	64135	IFIH1	OMIM:615846
HP:0000737	Irritability	64135	IFIH1	ORPHA:51
HP:0000737	Irritability	6598	SMARCB1	ORPHA:99966
HP:0000737	Irritability	9968	MED12	OMIM:301068
HP:0000737	Irritability	55739	NAXD	OMIM:618321
HP:0000737	Irritability	80025	PANK2	ORPHA:216873
HP:0000737	Irritability	6389	SDHA	ORPHA:3208
HP:0000737	Irritability	6390	SDHB	ORPHA:3208
HP:0000737	Irritability	6390	SDHB	OMIM:619224
HP:0000737	Irritability	6392	SDHD	ORPHA:3208
HP:0000737	Irritability	5741	PTH	OMIM:146200
HP:0000737	Irritability	55275	VPS53	OMIM:615851
HP:0000737	Irritability	10165	SLC25A13	ORPHA:247585
HP:0000737	Irritability	445	ASS1	OMIM:215700
HP:0000737	Irritability	2778	GNAS	ORPHA:79443
HP:0000737	Irritability	2778	GNAS	ORPHA:79444
HP:0000737	Irritability	2778	GNAS	ORPHA:94089
HP:0000737	Irritability	5836	PYGL	ORPHA:369
HP:0000737	Irritability	6509	SLC1A4	ORPHA:447997
HP:0000737	Irritability	6509	SLC1A4	OMIM:616657
HP:0000737	Irritability	3339	HSPG2	ORPHA:800
HP:0000737	Irritability	28962	OSTM1	OMIM:259720
HP:0000737	Irritability	9896	FIG4	OMIM:216340
HP:0000737	Irritability	11277	TREX1	ORPHA:247691
HP:0000737	Irritability	11277	TREX1	ORPHA:51
HP:0000737	Irritability	6576	SLC25A1	OMIM:615182
HP:0000737	Irritability	10535	RNASEH2A	ORPHA:51
HP:0000737	Irritability	84153	RNASEH2C	ORPHA:51
HP:0000737	Irritability	25939	SAMHD1	ORPHA:51
HP:0000737	Irritability	25939	SAMHD1	OMIM:612952
HP:0000737	Irritability	79621	RNASEH2B	ORPHA:51
HP:0000737	Irritability	100147744	RNU7-1	ORPHA:51
HP:0000737	Irritability	100147744	RNU7-1	OMIM:619487
HP:0000737	Irritability	134353	LSM11	ORPHA:51
HP:0000737	Irritability	134353	LSM11	OMIM:619486
HP:0000737	Irritability	149233	IL23R	ORPHA:117
HP:0000737	Irritability	6775	STAT4	ORPHA:117
HP:0000737	Irritability	3586	IL10	ORPHA:117
HP:0000737	Irritability	4210	MEFV	ORPHA:117
HP:0000737	Irritability	1230	CCR1	ORPHA:117
HP:0000737	Irritability	355	FAS	ORPHA:117
HP:0000737	Irritability	3592	IL12A	ORPHA:117
HP:0000737	Irritability	101928376	IL12A-AS1	ORPHA:117
HP:0000737	Irritability	3106	HLA-B	ORPHA:117
HP:0000737	Irritability	7099	TLR4	ORPHA:117
HP:0000737	Irritability	3459	IFNGR1	ORPHA:117
HP:0000737	Irritability	720	C4A	ORPHA:117
HP:0000737	Irritability	337867	UBAC2	ORPHA:117
HP:0000737	Irritability	51752	ERAP1	ORPHA:117
HP:0000737	Irritability	8302	KLRC4	ORPHA:117
HP:0000737	Irritability	79876	UBA5	OMIM:617132
HP:0000737	Irritability	23516	SLC39A14	OMIM:617013
HP:0000737	Irritability	359	AQP2	OMIM:125800
HP:0000737	Irritability	2290	FOXG1	OMIM:613454
HP:0000737	Irritability	23394	ADNP	OMIM:615873
HP:0000737	Irritability	4719	NDUFS1	OMIM:618226
HP:0000737	Irritability	65062	TMEM237	OMIM:614424
HP:0000737	Irritability	6948	TCN2	OMIM:275350
HP:0000737	Irritability	79813	EHMT1	ORPHA:96147
HP:0000737	Irritability	9256	TSPOAP1	ORPHA:101150
HP:0000737	Irritability	7054	TH	ORPHA:101150
HP:0000737	Irritability	8675	STX16	ORPHA:94089
HP:0000737	Irritability	50814	NSDHL	ORPHA:251383
HP:0000737	Irritability	50814	NSDHL	OMIM:300831
HP:0000737	Irritability	2581	GALC	ORPHA:206443
HP:0000737	Irritability	2581	GALC	ORPHA:206436
HP:0000737	Irritability	55610	VPS50	OMIM:619685
HP:0000737	Irritability	26275	HIBCH	ORPHA:88639
HP:0000737	Irritability	26275	HIBCH	OMIM:250620
HP:0000737	Irritability	6567	SLC16A2	OMIM:300523
HP:0000737	Irritability	64801	ARV1	OMIM:617020
HP:0000737	Irritability	4695	NDUFA2	OMIM:618235
HP:0000737	Irritability	116461	TSEN15	OMIM:617026
HP:0000737	Irritability	10978	CLP1	ORPHA:411493
HP:0000737	Irritability	112939	NACC1	ORPHA:500545
HP:0000737	Irritability	112939	NACC1	OMIM:617393
HP:0000737	Irritability	5053	PAH	OMIM:261600
HP:0000737	Irritability	29078	NDUFAF4	OMIM:618237
HP:0000737	Irritability	6833	ABCC8	OMIM:240800
HP:0000737	Irritability	1644	DDC	OMIM:608643
HP:0000737	Irritability	443	ASPA	ORPHA:314911
HP:0000737	Irritability	4868	NPHS1	ORPHA:656
HP:0000737	Irritability	23607	CD2AP	ORPHA:656
HP:0000737	Irritability	9688	NUP93	ORPHA:656
HP:0000737	Irritability	4643	MYO1E	ORPHA:656
HP:0000737	Irritability	64423	INF2	ORPHA:656
HP:0000737	Irritability	26130	GAPVD1	ORPHA:656
HP:0000737	Irritability	7490	WT1	ORPHA:656
HP:0000737	Irritability	57122	NUP107	ORPHA:656
HP:0000737	Irritability	51479	ANKFY1	ORPHA:656
HP:0000737	Irritability	54443	ANLN	ORPHA:656
HP:0000737	Irritability	5800	PTPRO	ORPHA:656
HP:0000737	Irritability	286204	CRB2	ORPHA:656
HP:0000737	Irritability	23165	NUP205	ORPHA:656
HP:0000737	Irritability	2013	EMP2	ORPHA:656
HP:0000737	Irritability	79023	NUP37	ORPHA:656
HP:0000737	Irritability	51196	PLCE1	ORPHA:656
HP:0000737	Irritability	79902	NUP85	ORPHA:656
HP:0000737	Irritability	1285	COL4A3	ORPHA:656
HP:0000737	Irritability	396	ARHGDIA	ORPHA:656
HP:0000737	Irritability	79934	COQ8B	ORPHA:656
HP:0000737	Irritability	23279	NUP160	ORPHA:656
HP:0000737	Irritability	9863	MAGI2	ORPHA:656
HP:0000737	Irritability	81	ACTN4	ORPHA:656
HP:0000737	Irritability	7225	TRPC6	ORPHA:656
HP:0000737	Irritability	8542	APOL1	ORPHA:656
HP:0000737	Irritability	54885	TBC1D8B	ORPHA:656
HP:0000737	Irritability	7827	NPHS2	ORPHA:656
HP:0000737	Irritability	83478	ARHGAP24	ORPHA:656
HP:0000737	Irritability	23500	DAAM2	ORPHA:656
HP:0000737	Irritability	5076	PAX2	ORPHA:656
HP:0000737	Irritability	55746	NUP133	ORPHA:656
HP:0000737	Irritability	8869	ST3GAL5	OMIM:609056
HP:0000737	Irritability	10588	MTHFS	OMIM:618367
HP:0000737	Irritability	2332	FMR1	ORPHA:449291
HP:0000737	Irritability	55572	FOXRED1	OMIM:618241
HP:0000737	Irritability	8260	NAA10	OMIM:300855
HP:0000737	Irritability	29920	PYCR2	ORPHA:481152
HP:0000737	Irritability	3119	HLA-DQB1	OMIM:123400
HP:0000737	Irritability	55630	SLC39A4	OMIM:201100
HP:0000737	Irritability	11342	RNF13	OMIM:618379
HP:0000737	Irritability	11342	RNF13	ORPHA:544503
HP:0000737	Irritability	4700	NDUFA6	OMIM:618253
HP:0000737	Irritability	427	ASAH1	OMIM:228000
HP:0000737	Irritability	7421	VDR	OMIM:277440
HP:0000737	Irritability	773	CACNA1A	ORPHA:71518
HP:0000737	Irritability	26227	PHGDH	ORPHA:79351
HP:0000737	Irritability	4204	MECP2	ORPHA:3077
HP:0000737	Irritability	60386	SLC25A19	ORPHA:99742
HP:0000737	Irritability	60386	SLC25A19	OMIM:607196
HP:0000737	Irritability	5092	PCBD1	ORPHA:1578
HP:0000737	Irritability	80185	TTI2	ORPHA:391307
HP:0000737	Irritability	57338	JPH3	OMIM:606438
HP:0000737	Irritability	11340	EXOSC8	OMIM:616081
HP:0000737	Irritability	5167	ENPP1	ORPHA:51608
HP:0000737	Irritability	368	ABCC6	ORPHA:51608
HP:0000737	Irritability	51501	HIKESHI	OMIM:616881
HP:0000737	Irritability	6711	SPTBN1	OMIM:619475
HP:0000737	Irritability	435	ASL	OMIM:207900
HP:0000737	Irritability	3704	ITPA	OMIM:616647
HP:0000737	Irritability	51091	SEPSECS	OMIM:613811
HP:0000737	Irritability	7305	TYROBP	ORPHA:2770
HP:0000737	Irritability	54209	TREM2	ORPHA:2770
HP:0000737	Irritability	54209	TREM2	ORPHA:275864
HP:0000737	Irritability	2222	FDFT1	OMIM:618156
HP:0000737	Irritability	90522	YIF1B	OMIM:619125
HP:0000737	Irritability	374354	NHLRC2	OMIM:618278
HP:0000737	Irritability	128240	NAXE	OMIM:617186
HP:0000737	Irritability	1806	DPYD	ORPHA:1675
HP:0000737	Irritability	2893	GRIA4	OMIM:617864
HP:0000737	Irritability	57570	TRMT5	OMIM:616539
HP:0000737	Irritability	2998	GYS2	ORPHA:2089
HP:0000737	Irritability	1786	DNMT1	OMIM:614116
HP:0000737	Irritability	1759	DNM1	OMIM:620352
HP:0000737	Irritability	51	ACOX1	OMIM:264470
HP:0000737	Irritability	5805	PTS	OMIM:261640
HP:0000737	Irritability	551	AVP	ORPHA:30925
HP:0000737	Irritability	200205	IBA57	OMIM:615330
HP:0000737	Irritability	5538	PPT1	OMIM:256730
HP:0000737	Irritability	8243	SMC1A	ORPHA:220386
HP:0000737	Irritability	383	ARG1	OMIM:207800
HP:0000737	Irritability	9439	MED23	OMIM:614249
HP:0000737	Irritability	5660	PSAP	ORPHA:206436
HP:0000737	Irritability	4693	NDP	ORPHA:649
HP:0000737	Irritability	4508	MT-ATP6	ORPHA:644
HP:0000737	Irritability	5860	QDPR	OMIM:261630
HP:0000737	Irritability	8803	SUCLA2	OMIM:612073
HP:0000737	Irritability	25978	CHMP2B	ORPHA:275864
HP:0000737	Irritability	2896	GRN	ORPHA:275864
HP:0000737	Irritability	54664	TMEM106B	ORPHA:275864
HP:0000737	Irritability	8878	SQSTM1	ORPHA:275864
HP:0000737	Irritability	7415	VCP	ORPHA:275864
HP:0000737	Irritability	498	ATP5F1A	OMIM:615228
HP:0000737	Irritability	1373	CPS1	OMIM:237300
HP:0000738	Hallucinations	1203	CLN5	ORPHA:228360
HP:0000738	Hallucinations	57338	JPH3	OMIM:606438
HP:0000738	Hallucinations	5621	PRNP	ORPHA:282166
HP:0000738	Hallucinations	5621	PRNP	OMIM:123400
HP:0000738	Hallucinations	3064	HTT	ORPHA:399
HP:0000738	Hallucinations	6515	SLC2A3	ORPHA:399
HP:0000738	Hallucinations	7399	USH2A	ORPHA:231178
HP:0000738	Hallucinations	79955	PDZD7	ORPHA:231178
HP:0000738	Hallucinations	4647	MYO7A	ORPHA:231178
HP:0000738	Hallucinations	4647	MYO7A	ORPHA:231169
HP:0000738	Hallucinations	25861	WHRN	ORPHA:231178
HP:0000738	Hallucinations	84059	ADGRV1	ORPHA:231178
HP:0000738	Hallucinations	410	ARSA	ORPHA:309256
HP:0000738	Hallucinations	410	ARSA	ORPHA:309271
HP:0000738	Hallucinations	410	ARSA	ORPHA:309263
HP:0000738	Hallucinations	410	ARSA	OMIM:250100
HP:0000738	Hallucinations	5660	PSAP	ORPHA:309256
HP:0000738	Hallucinations	5660	PSAP	ORPHA:309271
HP:0000738	Hallucinations	5660	PSAP	ORPHA:309263
HP:0000738	Hallucinations	1629	DBT	OMIM:248600
HP:0000738	Hallucinations	593	BCKDHA	OMIM:248600
HP:0000738	Hallucinations	594	BCKDHB	OMIM:248600
HP:0000738	Hallucinations	56978	PRDM8	OMIM:616640
HP:0000738	Hallucinations	1593	CYP27A1	ORPHA:909
HP:0000738	Hallucinations	1593	CYP27A1	OMIM:213700
HP:0000738	Hallucinations	54902	TTC19	OMIM:615157
HP:0000738	Hallucinations	4693	NDP	OMIM:310600
HP:0000738	Hallucinations	4693	NDP	ORPHA:649
HP:0000738	Hallucinations	493856	CISD2	ORPHA:3463
HP:0000738	Hallucinations	7466	WFS1	ORPHA:3463
HP:0000738	Hallucinations	7466	WFS1	OMIM:614296
HP:0000738	Hallucinations	80067	DCAF17	ORPHA:3464
HP:0000738	Hallucinations	80067	DCAF17	OMIM:241080
HP:0000738	Hallucinations	8659	ALDH4A1	ORPHA:79101
HP:0000738	Hallucinations	2521	FUS	ORPHA:275872
HP:0000738	Hallucinations	8878	SQSTM1	ORPHA:275872
HP:0000738	Hallucinations	7415	VCP	ORPHA:275872
HP:0000738	Hallucinations	23435	TARDBP	ORPHA:275872
HP:0000738	Hallucinations	29110	TBK1	ORPHA:275872
HP:0000738	Hallucinations	400916	CHCHD10	ORPHA:275872
HP:0000738	Hallucinations	203228	C9orf72	OMIM:105550
HP:0000738	Hallucinations	2896	GRN	OMIM:607485
HP:0000738	Hallucinations	4072	EPCAM	ORPHA:144
HP:0000738	Hallucinations	4292	MLH1	ORPHA:144
HP:0000738	Hallucinations	5395	PMS2	ORPHA:144
HP:0000738	Hallucinations	27030	MLH3	ORPHA:144
HP:0000738	Hallucinations	22909	FAN1	ORPHA:144
HP:0000738	Hallucinations	7048	TGFBR2	ORPHA:144
HP:0000738	Hallucinations	3845	KRAS	ORPHA:144
HP:0000738	Hallucinations	5290	PIK3CA	ORPHA:144
HP:0000738	Hallucinations	2956	MSH6	ORPHA:144
HP:0000738	Hallucinations	5378	PMS1	ORPHA:144
HP:0000738	Hallucinations	4436	MSH2	ORPHA:144
HP:0000738	Hallucinations	4125	MAN2B1	ORPHA:309282
HP:0000738	Hallucinations	4125	MAN2B1	ORPHA:309288
HP:0000738	Hallucinations	3119	HLA-DQB1	ORPHA:83465
HP:0000738	Hallucinations	3119	HLA-DQB1	ORPHA:2073
HP:0000738	Hallucinations	3119	HLA-DQB1	OMIM:123400
HP:0000738	Hallucinations	3060	HCRT	ORPHA:83465
HP:0000738	Hallucinations	3060	HCRT	ORPHA:2073
HP:0000738	Hallucinations	22891	ZNF365	ORPHA:83465
HP:0000738	Hallucinations	22891	ZNF365	ORPHA:2073
HP:0000738	Hallucinations	3123	HLA-DRB1	ORPHA:83465
HP:0000738	Hallucinations	3123	HLA-DRB1	ORPHA:2073
HP:0000738	Hallucinations	64218	SEMA4A	ORPHA:440437
HP:0000738	Hallucinations	657	BMPR1A	ORPHA:440437
HP:0000738	Hallucinations	6224	RPS20	ORPHA:440437
HP:0000738	Hallucinations	1312	COMT	OMIM:181500
HP:0000738	Hallucinations	23780	APOL2	OMIM:181500
HP:0000738	Hallucinations	267012	DAOA	OMIM:181500
HP:0000738	Hallucinations	3356	HTR2A	OMIM:181500
HP:0000738	Hallucinations	6854	SYN2	OMIM:181500
HP:0000738	Hallucinations	1814	DRD3	OMIM:181500
HP:0000738	Hallucinations	4524	MTHFR	OMIM:181500
HP:0000738	Hallucinations	27184	DISC2	OMIM:181500
HP:0000738	Hallucinations	65078	RTN4R	OMIM:181500
HP:0000738	Hallucinations	80832	APOL4	OMIM:181500
HP:0000738	Hallucinations	1116	CHI3L1	OMIM:181500
HP:0000738	Hallucinations	9829	DNAJC6	OMIM:615528
HP:0000738	Hallucinations	9829	DNAJC6	ORPHA:2828
HP:0000738	Hallucinations	51114	ZDHHC9	ORPHA:776
HP:0000738	Hallucinations	65109	UPF3B	ORPHA:776
HP:0000738	Hallucinations	9968	MED12	ORPHA:776
HP:0000738	Hallucinations	617	BCS1L	OMIM:124000
HP:0000738	Hallucinations	7401	CLRN1	ORPHA:231183
HP:0000738	Hallucinations	22901	ARSG	ORPHA:231183
HP:0000738	Hallucinations	4575	MT-TS2	ORPHA:231183
HP:0000738	Hallucinations	3035	HARS1	ORPHA:231183
HP:0000738	Hallucinations	84131	CEP78	ORPHA:231183
HP:0000738	Hallucinations	10059	DNM1L	ORPHA:98673
HP:0000738	Hallucinations	4976	OPA1	ORPHA:98673
HP:0000738	Hallucinations	210	ALAD	ORPHA:100924
HP:0000738	Hallucinations	1512	CTSH	ORPHA:2073
HP:0000738	Hallucinations	5032	P2RY11	ORPHA:2073
HP:0000738	Hallucinations	4340	MOG	ORPHA:2073
HP:0000738	Hallucinations	7292	TNFSF4	ORPHA:2073
HP:0000738	Hallucinations	5538	PPT1	OMIM:256730
HP:0000738	Hallucinations	340024	SLC6A19	ORPHA:2116
HP:0000738	Hallucinations	57393	CLTRN	ORPHA:2116
HP:0000738	Hallucinations	10165	SLC25A13	ORPHA:247585
HP:0000738	Hallucinations	5663	PSEN1	ORPHA:1020
HP:0000738	Hallucinations	5664	PSEN2	ORPHA:1020
HP:0000738	Hallucinations	10452	TOMM40	ORPHA:1020
HP:0000738	Hallucinations	351	APP	ORPHA:1020
HP:0000738	Hallucinations	54209	TREM2	ORPHA:1020
HP:0000738	Hallucinations	10347	ABCA7	ORPHA:1020
HP:0000738	Hallucinations	6653	SORL1	ORPHA:1020
HP:0000738	Hallucinations	1371	CPOX	OMIM:121300
HP:0000738	Hallucinations	7276	TTR	OMIM:105210
HP:0000738	Hallucinations	5654	HTRA1	OMIM:600142
HP:0000738	Hallucinations	64072	CDH23	ORPHA:231169
HP:0000738	Hallucinations	10083	USH1C	ORPHA:231169
HP:0000738	Hallucinations	124590	USH1G	ORPHA:231169
HP:0000738	Hallucinations	83715	ESPN	ORPHA:231169
HP:0000738	Hallucinations	10518	CIB2	ORPHA:231169
HP:0000738	Hallucinations	65217	PCDH15	ORPHA:231169
HP:0000738	Hallucinations	23111	SPART	ORPHA:101000
HP:0000738	Hallucinations	1893	ECM1	OMIM:247100
HP:0000738	Hallucinations	8295	TRRAP	OMIM:618454
HP:0000738	Hallucinations	5718	PSMD12	ORPHA:529962
HP:0000738	Hallucinations	2186	BPTF	ORPHA:529962
HP:0000738	Hallucinations	51142	CHCHD2	OMIM:616710
HP:0000738	Hallucinations	54832	VPS13C	ORPHA:2828
HP:0000738	Hallucinations	11315	PARK7	ORPHA:2828
HP:0000738	Hallucinations	7345	UCHL1	ORPHA:2828
HP:0000738	Hallucinations	27429	HTRA2	ORPHA:2828
HP:0000738	Hallucinations	5420	PODXL	ORPHA:2828
HP:0000738	Hallucinations	65018	PINK1	ORPHA:2828
HP:0000738	Hallucinations	8867	SYNJ1	ORPHA:2828
HP:0000738	Hallucinations	5071	PRKN	ORPHA:2828
HP:0000738	Hallucinations	2747	GLUD2	OMIM:168600
HP:0000738	Hallucinations	126	ADH1C	OMIM:168600
HP:0000738	Hallucinations	4137	MAPT	OMIM:168600
HP:0000738	Hallucinations	4929	NR4A2	OMIM:168600
HP:0000738	Hallucinations	6908	TBP	OMIM:168600
HP:0000738	Hallucinations	6908	TBP	OMIM:607136
HP:0000738	Hallucinations	4576	MT-TT	OMIM:168600
HP:0000738	Hallucinations	9627	SNCAIP	OMIM:168600
HP:0000738	Hallucinations	6311	ATXN2	OMIM:168600
HP:0000738	Hallucinations	6315	ATXN8OS	OMIM:168600
HP:0000738	Hallucinations	5498	PPOX	ORPHA:79473
HP:0000738	Hallucinations	3145	HMBS	ORPHA:79276
HP:0000738	Hallucinations	7915	ALDH5A1	OMIM:271980
HP:0000738	Hallucinations	9896	FIG4	ORPHA:208441
HP:0000738	Hallucinations	9896	FIG4	OMIM:612691
HP:0000738	Hallucinations	5649	RELN	ORPHA:101046
HP:0000738	Hallucinations	9211	LGI1	ORPHA:101046
HP:0000738	Hallucinations	9681	DEPDC5	ORPHA:101046
HP:0000738	Hallucinations	9681	DEPDC5	ORPHA:98820
HP:0000738	Hallucinations	80331	DNAJC5	OMIM:162350
HP:0000738	Hallucinations	25793	FBXO7	ORPHA:171695
HP:0000738	Hallucinations	6622	SNCA	ORPHA:171695
HP:0000738	Hallucinations	6622	SNCA	ORPHA:411602
HP:0000738	Hallucinations	6622	SNCA	OMIM:127750
HP:0000738	Hallucinations	23400	ATP13A2	ORPHA:306674
HP:0000738	Hallucinations	7957	EPM2A	OMIM:254780
HP:0000738	Hallucinations	7957	EPM2A	ORPHA:501
HP:0000738	Hallucinations	378884	NHLRC1	OMIM:254780
HP:0000738	Hallucinations	378884	NHLRC1	ORPHA:501
HP:0000738	Hallucinations	54982	CLN6	OMIM:204300
HP:0000738	Hallucinations	2629	GBA1	ORPHA:411602
HP:0000738	Hallucinations	2629	GBA1	OMIM:127750
HP:0000738	Hallucinations	23317	DNAJC13	ORPHA:411602
HP:0000738	Hallucinations	1981	EIF4G1	ORPHA:411602
HP:0000738	Hallucinations	55737	VPS35	ORPHA:411602
HP:0000738	Hallucinations	120892	LRRK2	ORPHA:411602
HP:0000738	Hallucinations	26058	GIGYF2	ORPHA:411602
HP:0000738	Hallucinations	1201	CLN3	ORPHA:228346
HP:0000738	Hallucinations	6620	SNCB	OMIM:127750
HP:0000738	Hallucinations	83480	PUS3	ORPHA:488627
HP:0000738	Hallucinations	773	CACNA1A	OMIM:141500
HP:0000738	Hallucinations	8131	NPRL3	ORPHA:98820
HP:0000738	Hallucinations	10641	NPRL2	ORPHA:98820
HP:0000738	Hallucinations	1786	DNMT1	OMIM:604121
HP:0000738	Hallucinations	1436	CSF1R	OMIM:221820
HP:0000738	Hallucinations	5159	PDGFRB	OMIM:616592
HP:0000738	Hallucinations	387119	CEP85L	OMIM:618873
HP:0000738	Hallucinations	6651	SON	ORPHA:500150
HP:0000738	Hallucinations	25974	MMACHC	ORPHA:79282
HP:0000738	Hallucinations	1000	CDH2	OMIM:618929
HP:0000739	Anxiety	5621	PRNP	ORPHA:282166
HP:0000739	Anxiety	5621	PRNP	OMIM:603218
HP:0000739	Anxiety	5621	PRNP	ORPHA:280397
HP:0000739	Anxiety	5621	PRNP	OMIM:123400
HP:0000739	Anxiety	3064	HTT	ORPHA:399
HP:0000739	Anxiety	6515	SLC2A3	ORPHA:399
HP:0000739	Anxiety	199857	ALG14	OMIM:619031
HP:0000739	Anxiety	7528	YY1	ORPHA:506358
HP:0000739	Anxiety	7528	YY1	OMIM:617557
HP:0000739	Anxiety	7528	YY1	ORPHA:97279
HP:0000739	Anxiety	6513	SLC2A1	ORPHA:64280
HP:0000739	Anxiety	2562	GABRB3	ORPHA:64280
HP:0000739	Anxiety	2554	GABRA1	ORPHA:64280
HP:0000739	Anxiety	2554	GABRA1	ORPHA:33069
HP:0000739	Anxiety	8912	CACNA1H	ORPHA:64280
HP:0000739	Anxiety	8629	JRK	ORPHA:64280
HP:0000739	Anxiety	2566	GABRG2	ORPHA:64280
HP:0000739	Anxiety	2566	GABRG2	ORPHA:36387
HP:0000739	Anxiety	2566	GABRG2	ORPHA:1945
HP:0000739	Anxiety	2566	GABRG2	ORPHA:33069
HP:0000739	Anxiety	23394	ADNP	ORPHA:404448
HP:0000739	Anxiety	23394	ADNP	OMIM:615873
HP:0000739	Anxiety	7384	UQCRC1	OMIM:619279
HP:0000739	Anxiety	340533	NEXMIF	OMIM:300912
HP:0000739	Anxiety	1183	CLCN4	OMIM:300114
HP:0000739	Anxiety	1183	CLCN4	ORPHA:485350
HP:0000739	Anxiety	50651	SLC45A1	OMIM:617532
HP:0000739	Anxiety	6938	TCF12	OMIM:619718
HP:0000739	Anxiety	3008	H1-4	OMIM:617537
HP:0000739	Anxiety	1788	DNMT3A	ORPHA:404443
HP:0000739	Anxiety	10060	ABCC9	OMIM:619719
HP:0000739	Anxiety	478	ATP1A3	OMIM:128235
HP:0000739	Anxiety	478	ATP1A3	ORPHA:71517
HP:0000739	Anxiety	64324	NSD1	ORPHA:821
HP:0000739	Anxiety	29072	SETD2	ORPHA:821
HP:0000739	Anxiety	29072	SETD2	OMIM:616831
HP:0000739	Anxiety	10297	APC2	ORPHA:821
HP:0000739	Anxiety	55209	SETD5	ORPHA:404440
HP:0000739	Anxiety	5521	PPP2R2B	OMIM:604326
HP:0000739	Anxiety	4072	EPCAM	ORPHA:144
HP:0000739	Anxiety	4292	MLH1	ORPHA:144
HP:0000739	Anxiety	5395	PMS2	ORPHA:144
HP:0000739	Anxiety	27030	MLH3	ORPHA:144
HP:0000739	Anxiety	22909	FAN1	ORPHA:144
HP:0000739	Anxiety	7048	TGFBR2	ORPHA:144
HP:0000739	Anxiety	3845	KRAS	ORPHA:144
HP:0000739	Anxiety	5290	PIK3CA	ORPHA:144
HP:0000739	Anxiety	2956	MSH6	ORPHA:144
HP:0000739	Anxiety	5378	PMS1	ORPHA:144
HP:0000739	Anxiety	4436	MSH2	ORPHA:144
HP:0000739	Anxiety	4125	MAN2B1	ORPHA:309282
HP:0000739	Anxiety	4125	MAN2B1	ORPHA:309288
HP:0000739	Anxiety	4312	MMP1	ORPHA:79408
HP:0000739	Anxiety	1294	COL7A1	ORPHA:79408
HP:0000739	Anxiety	1294	COL7A1	ORPHA:89842
HP:0000739	Anxiety	116931	MED12L	OMIM:618872
HP:0000739	Anxiety	3074	HEXB	ORPHA:309169
HP:0000739	Anxiety	9578	CDC42BPB	OMIM:619841
HP:0000739	Anxiety	5155	PDGFB	OMIM:615483
HP:0000739	Anxiety	5575	PRKAR1B	ORPHA:412066
HP:0000739	Anxiety	64218	SEMA4A	ORPHA:440437
HP:0000739	Anxiety	657	BMPR1A	ORPHA:440437
HP:0000739	Anxiety	6224	RPS20	ORPHA:440437
HP:0000739	Anxiety	4137	MAPT	ORPHA:240085
HP:0000739	Anxiety	4137	MAPT	ORPHA:100070
HP:0000739	Anxiety	7532	YWHAG	OMIM:617665
HP:0000739	Anxiety	50940	PDE11A	OMIM:610475
HP:0000739	Anxiety	55904	KMT2E	OMIM:618512
HP:0000739	Anxiety	2314	FLII	ORPHA:819
HP:0000739	Anxiety	23096	IQSEC2	ORPHA:819
HP:0000739	Anxiety	10743	RAI1	ORPHA:819
HP:0000739	Anxiety	10743	RAI1	ORPHA:1713
HP:0000739	Anxiety	10522	DEAF1	ORPHA:819
HP:0000739	Anxiety	10847	SRCAP	ORPHA:2044
HP:0000739	Anxiety	27102	EIF2AK1	OMIM:618878
HP:0000739	Anxiety	3781	KCNN2	OMIM:619725
HP:0000739	Anxiety	6660	SOX5	ORPHA:313892
HP:0000739	Anxiety	6660	SOX5	OMIM:616803
HP:0000739	Anxiety	284058	KANSL1	ORPHA:363958
HP:0000739	Anxiety	284058	KANSL1	ORPHA:363965
HP:0000739	Anxiety	284058	KANSL1	OMIM:610443
HP:0000739	Anxiety	55870	ASH1L	OMIM:617796
HP:0000739	Anxiety	55154	MSTO1	OMIM:617675
HP:0000739	Anxiety	55154	MSTO1	ORPHA:502423
HP:0000739	Anxiety	50484	RRM2B	OMIM:613077
HP:0000739	Anxiety	50484	RRM2B	ORPHA:254892
HP:0000739	Anxiety	9739	SETD1A	OMIM:619056
HP:0000739	Anxiety	10352	WARS2	OMIM:619738
HP:0000739	Anxiety	5573	PRKAR1A	OMIM:610489
HP:0000739	Anxiety	5573	PRKAR1A	ORPHA:1501
HP:0000739	Anxiety	3117	HLA-DQA1	OMIM:212750
HP:0000739	Anxiety	3119	HLA-DQB1	OMIM:212750
HP:0000739	Anxiety	3119	HLA-DQB1	OMIM:123400
HP:0000739	Anxiety	83550	GPR101	ORPHA:963
HP:0000739	Anxiety	9049	AIP	ORPHA:963
HP:0000739	Anxiety	2332	FMR1	ORPHA:93256
HP:0000739	Anxiety	2332	FMR1	ORPHA:908
HP:0000739	Anxiety	2332	FMR1	ORPHA:449291
HP:0000739	Anxiety	2332	FMR1	OMIM:300623
HP:0000739	Anxiety	7276	TTR	OMIM:105210
HP:0000739	Anxiety	84133	ZNRF3	ORPHA:1501
HP:0000739	Anxiety	7157	TP53	ORPHA:1501
HP:0000739	Anxiety	1499	CTNNB1	ORPHA:1501
HP:0000739	Anxiety	1029	CDKN2A	ORPHA:1501
HP:0000739	Anxiety	7015	TERT	ORPHA:1501
HP:0000739	Anxiety	10273	STUB1	OMIM:618093
HP:0000739	Anxiety	64919	BCL11B	OMIM:618092
HP:0000739	Anxiety	5159	PDGFRB	OMIM:616592
HP:0000739	Anxiety	79152	FA2H	ORPHA:329308
HP:0000739	Anxiety	4297	KMT2A	ORPHA:319182
HP:0000739	Anxiety	7466	WFS1	OMIM:614296
HP:0000739	Anxiety	7466	WFS1	ORPHA:411590
HP:0000739	Anxiety	5813	PURA	ORPHA:438216
HP:0000739	Anxiety	1201	CLN3	OMIM:204200
HP:0000739	Anxiety	1201	CLN3	ORPHA:228346
HP:0000739	Anxiety	23230	VPS13A	ORPHA:2388
HP:0000739	Anxiety	23230	VPS13A	OMIM:200150
HP:0000739	Anxiety	28514	DLL1	ORPHA:93926
HP:0000739	Anxiety	28514	DLL1	ORPHA:93924
HP:0000739	Anxiety	28514	DLL1	ORPHA:93925
HP:0000739	Anxiety	28514	DLL1	ORPHA:220386
HP:0000739	Anxiety	2253	FGF8	ORPHA:93926
HP:0000739	Anxiety	2253	FGF8	ORPHA:93924
HP:0000739	Anxiety	2253	FGF8	ORPHA:93925
HP:0000739	Anxiety	2253	FGF8	ORPHA:432
HP:0000739	Anxiety	2253	FGF8	ORPHA:220386
HP:0000739	Anxiety	6496	SIX3	ORPHA:93926
HP:0000739	Anxiety	6496	SIX3	ORPHA:93924
HP:0000739	Anxiety	6496	SIX3	ORPHA:93925
HP:0000739	Anxiety	6496	SIX3	ORPHA:220386
HP:0000739	Anxiety	7050	TGIF1	ORPHA:93926
HP:0000739	Anxiety	7050	TGIF1	ORPHA:93924
HP:0000739	Anxiety	7050	TGIF1	ORPHA:93925
HP:0000739	Anxiety	7050	TGIF1	ORPHA:220386
HP:0000739	Anxiety	4838	NODAL	ORPHA:93926
HP:0000739	Anxiety	4838	NODAL	ORPHA:93924
HP:0000739	Anxiety	4838	NODAL	ORPHA:93925
HP:0000739	Anxiety	4838	NODAL	ORPHA:220386
HP:0000739	Anxiety	6469	SHH	ORPHA:93926
HP:0000739	Anxiety	6469	SHH	ORPHA:93924
HP:0000739	Anxiety	6469	SHH	ORPHA:93925
HP:0000739	Anxiety	6469	SHH	ORPHA:220386
HP:0000739	Anxiety	7546	ZIC2	ORPHA:93926
HP:0000739	Anxiety	7546	ZIC2	ORPHA:93924
HP:0000739	Anxiety	7546	ZIC2	ORPHA:93925
HP:0000739	Anxiety	7546	ZIC2	ORPHA:220386
HP:0000739	Anxiety	6491	STIL	ORPHA:93926
HP:0000739	Anxiety	6491	STIL	ORPHA:93924
HP:0000739	Anxiety	6491	STIL	ORPHA:93925
HP:0000739	Anxiety	6491	STIL	ORPHA:220386
HP:0000739	Anxiety	2619	GAS1	ORPHA:93926
HP:0000739	Anxiety	2619	GAS1	ORPHA:93924
HP:0000739	Anxiety	2619	GAS1	ORPHA:93925
HP:0000739	Anxiety	2619	GAS1	ORPHA:220386
HP:0000739	Anxiety	84976	DISP1	ORPHA:93926
HP:0000739	Anxiety	84976	DISP1	ORPHA:93924
HP:0000739	Anxiety	84976	DISP1	ORPHA:93925
HP:0000739	Anxiety	84976	DISP1	ORPHA:220386
HP:0000739	Anxiety	2736	GLI2	ORPHA:93926
HP:0000739	Anxiety	2736	GLI2	ORPHA:93924
HP:0000739	Anxiety	2736	GLI2	ORPHA:93925
HP:0000739	Anxiety	2736	GLI2	ORPHA:220386
HP:0000739	Anxiety	8928	FOXH1	ORPHA:93926
HP:0000739	Anxiety	8928	FOXH1	ORPHA:93924
HP:0000739	Anxiety	8928	FOXH1	ORPHA:93925
HP:0000739	Anxiety	8928	FOXH1	ORPHA:220386
HP:0000739	Anxiety	5727	PTCH1	ORPHA:93926
HP:0000739	Anxiety	5727	PTCH1	ORPHA:93924
HP:0000739	Anxiety	5727	PTCH1	ORPHA:93925
HP:0000739	Anxiety	5727	PTCH1	ORPHA:220386
HP:0000739	Anxiety	50937	CDON	ORPHA:93926
HP:0000739	Anxiety	50937	CDON	ORPHA:93924
HP:0000739	Anxiety	50937	CDON	ORPHA:93925
HP:0000739	Anxiety	50937	CDON	ORPHA:220386
HP:0000739	Anxiety	2260	FGFR1	ORPHA:93924
HP:0000739	Anxiety	2260	FGFR1	ORPHA:432
HP:0000739	Anxiety	2260	FGFR1	ORPHA:220386
HP:0000739	Anxiety	23007	PLCH1	ORPHA:93925
HP:0000739	Anxiety	10735	STAG2	ORPHA:93925
HP:0000739	Anxiety	10735	STAG2	ORPHA:521258
HP:0000739	Anxiety	10735	STAG2	ORPHA:220386
HP:0000739	Anxiety	54832	VPS13C	ORPHA:2828
HP:0000739	Anxiety	11315	PARK7	ORPHA:2828
HP:0000739	Anxiety	11315	PARK7	OMIM:606324
HP:0000739	Anxiety	7345	UCHL1	ORPHA:2828
HP:0000739	Anxiety	27429	HTRA2	ORPHA:2828
HP:0000739	Anxiety	120892	LRRK2	ORPHA:2828
HP:0000739	Anxiety	9829	DNAJC6	ORPHA:2828
HP:0000739	Anxiety	6622	SNCA	ORPHA:2828
HP:0000739	Anxiety	5420	PODXL	ORPHA:2828
HP:0000739	Anxiety	65018	PINK1	ORPHA:2828
HP:0000739	Anxiety	65018	PINK1	OMIM:605909
HP:0000739	Anxiety	8867	SYNJ1	ORPHA:2828
HP:0000739	Anxiety	5071	PRKN	ORPHA:2828
HP:0000739	Anxiety	2903	GRIN2A	ORPHA:98818
HP:0000739	Anxiety	2903	GRIN2A	ORPHA:1945
HP:0000739	Anxiety	25942	SIN3A	OMIM:613406
HP:0000739	Anxiety	27235	COQ2	ORPHA:98933
HP:0000739	Anxiety	27235	COQ2	ORPHA:227510
HP:0000739	Anxiety	6335	SCN9A	ORPHA:36387
HP:0000739	Anxiety	6335	SCN9A	ORPHA:33069
HP:0000739	Anxiety	112755	STX1B	ORPHA:36387
HP:0000739	Anxiety	2563	GABRD	ORPHA:36387
HP:0000739	Anxiety	6326	SCN2A	ORPHA:36387
HP:0000739	Anxiety	6326	SCN2A	ORPHA:33069
HP:0000739	Anxiety	6323	SCN1A	ORPHA:36387
HP:0000739	Anxiety	6323	SCN1A	ORPHA:33069
HP:0000739	Anxiety	6324	SCN1B	ORPHA:36387
HP:0000739	Anxiety	6324	SCN1B	ORPHA:33069
HP:0000739	Anxiety	348980	HCN1	ORPHA:36387
HP:0000739	Anxiety	84059	ADGRV1	ORPHA:36387
HP:0000739	Anxiety	84059	ADGRV1	ORPHA:231178
HP:0000739	Anxiety	7915	ALDH5A1	OMIM:271980
HP:0000739	Anxiety	84138	SLC7A6OS	OMIM:619191
HP:0000739	Anxiety	8493	PPM1D	OMIM:617450
HP:0000739	Anxiety	1182	CLCN3	OMIM:619512
HP:0000739	Anxiety	2324	FLT4	OMIM:618780
HP:0000739	Anxiety	23126	POGZ	OMIM:616364
HP:0000739	Anxiety	57680	CHD8	OMIM:615032
HP:0000739	Anxiety	5063	PAK3	OMIM:300558
HP:0000739	Anxiety	54902	TTC19	OMIM:615157
HP:0000739	Anxiety	6804	STX1A	ORPHA:904
HP:0000739	Anxiety	6804	STX1A	ORPHA:586
HP:0000739	Anxiety	7461	CLIP2	ORPHA:904
HP:0000739	Anxiety	84277	DNAJC30	ORPHA:904
HP:0000739	Anxiety	8468	FKBP6	ORPHA:904
HP:0000739	Anxiety	5982	RFC2	ORPHA:904
HP:0000739	Anxiety	2969	GTF2I	ORPHA:904
HP:0000739	Anxiety	3984	LIMK1	ORPHA:904
HP:0000739	Anxiety	9569	GTF2IRD1	ORPHA:904
HP:0000739	Anxiety	155382	VPS37D	ORPHA:904
HP:0000739	Anxiety	155368	METTL27	ORPHA:904
HP:0000739	Anxiety	114049	BUD23	ORPHA:904
HP:0000739	Anxiety	7458	EIF4H	ORPHA:904
HP:0000739	Anxiety	84163	GTF2IRD2	ORPHA:904
HP:0000739	Anxiety	9275	BCL7B	ORPHA:904
HP:0000739	Anxiety	26608	TBL2	ORPHA:904
HP:0000739	Anxiety	653361	NCF1	ORPHA:904
HP:0000739	Anxiety	135886	TMEM270	ORPHA:904
HP:0000739	Anxiety	51085	MLXIPL	ORPHA:904
HP:0000739	Anxiety	51085	MLXIPL	OMIM:194050
HP:0000739	Anxiety	9031	BAZ1B	ORPHA:904
HP:0000739	Anxiety	2006	ELN	ORPHA:904
HP:0000739	Anxiety	2006	ELN	OMIM:194050
HP:0000739	Anxiety	6899	TBX1	ORPHA:1727
HP:0000739	Anxiety	6899	TBX1	ORPHA:567
HP:0000739	Anxiety	4784	NFIX	ORPHA:420179
HP:0000739	Anxiety	4784	NFIX	OMIM:614753
HP:0000739	Anxiety	54499	TMCO1	OMIM:213980
HP:0000739	Anxiety	8659	ALDH4A1	ORPHA:79101
HP:0000739	Anxiety	1859	DYRK1A	ORPHA:464311
HP:0000739	Anxiety	1859	DYRK1A	ORPHA:268261
HP:0000739	Anxiety	51284	TLR7	OMIM:301080
HP:0000739	Anxiety	23137	SMC5	OMIM:620185
HP:0000739	Anxiety	55343	SLC35C1	OMIM:266265
HP:0000739	Anxiety	111	ADCY5	OMIM:606703
HP:0000739	Anxiety	111	ADCY5	OMIM:619651
HP:0000739	Anxiety	2947	GSTM3	ORPHA:586
HP:0000739	Anxiety	7040	TGFB1	ORPHA:586
HP:0000739	Anxiety	2729	GCLC	ORPHA:586
HP:0000739	Anxiety	1084	CEACAM3	ORPHA:586
HP:0000739	Anxiety	6556	SLC11A1	ORPHA:586
HP:0000739	Anxiety	51164	DCTN4	ORPHA:586
HP:0000739	Anxiety	3783	KCNN4	ORPHA:586
HP:0000739	Anxiety	4282	MIF	ORPHA:586
HP:0000739	Anxiety	1909	EDNRA	ORPHA:586
HP:0000739	Anxiety	6550	SLC9A3	ORPHA:586
HP:0000739	Anxiety	3162	HMOX1	ORPHA:586
HP:0000739	Anxiety	115019	SLC26A9	ORPHA:586
HP:0000739	Anxiety	3077	HFE	ORPHA:586
HP:0000739	Anxiety	11254	SLC6A14	ORPHA:586
HP:0000739	Anxiety	5265	SERPINA1	ORPHA:586
HP:0000739	Anxiety	1080	CFTR	ORPHA:586
HP:0000739	Anxiety	22802	CLCA4	ORPHA:586
HP:0000739	Anxiety	4680	CEACAM6	ORPHA:586
HP:0000739	Anxiety	26137	ZBTB20	OMIM:259050
HP:0000739	Anxiety	27086	FOXP1	ORPHA:391372
HP:0000739	Anxiety	27086	FOXP1	OMIM:613670
HP:0000739	Anxiety	5594	MAPK1	OMIM:619087
HP:0000739	Anxiety	6942	TCF20	OMIM:618430
HP:0000739	Anxiety	2908	NR3C1	OMIM:615962
HP:0000739	Anxiety	200424	TET3	OMIM:618798
HP:0000739	Anxiety	10430	TMEM147	OMIM:620075
HP:0000739	Anxiety	4854	NOTCH3	ORPHA:136
HP:0000739	Anxiety	51322	WAC	ORPHA:284169
HP:0000739	Anxiety	51322	WAC	OMIM:616708
HP:0000739	Anxiety	51322	WAC	ORPHA:466950
HP:0000739	Anxiety	11152	WDR45	OMIM:300894
HP:0000739	Anxiety	54941	RNF125	OMIM:616260
HP:0000739	Anxiety	7415	VCP	ORPHA:329478
HP:0000739	Anxiety	7415	VCP	ORPHA:803
HP:0000739	Anxiety	7415	VCP	ORPHA:100070
HP:0000739	Anxiety	340024	SLC6A19	ORPHA:2116
HP:0000739	Anxiety	57393	CLTRN	ORPHA:2116
HP:0000739	Anxiety	57479	PRR12	OMIM:619539
HP:0000739	Anxiety	162417	NAGS	ORPHA:927
HP:0000739	Anxiety	3458	IFNG	ORPHA:805
HP:0000739	Anxiety	7248	TSC1	ORPHA:805
HP:0000739	Anxiety	7249	TSC2	ORPHA:805
HP:0000739	Anxiety	51574	LARP7	ORPHA:319671
HP:0000739	Anxiety	51574	LARP7	OMIM:615071
HP:0000739	Anxiety	25978	CHMP2B	ORPHA:803
HP:0000739	Anxiety	25978	CHMP2B	ORPHA:100070
HP:0000739	Anxiety	3178	HNRNPA1	ORPHA:803
HP:0000739	Anxiety	8148	TAF15	ORPHA:803
HP:0000739	Anxiety	5445	PON2	ORPHA:803
HP:0000739	Anxiety	9217	VAPB	ORPHA:803
HP:0000739	Anxiety	8878	SQSTM1	ORPHA:803
HP:0000739	Anxiety	5630	PRPH	ORPHA:803
HP:0000739	Anxiety	29110	TBK1	ORPHA:803
HP:0000739	Anxiety	55830	GLT8D1	ORPHA:803
HP:0000739	Anxiety	755	CFAP410	ORPHA:803
HP:0000739	Anxiety	10891	PPARGC1A	ORPHA:803
HP:0000739	Anxiety	6647	SOD1	ORPHA:803
HP:0000739	Anxiety	10133	OPTN	ORPHA:803
HP:0000739	Anxiety	1639	DCTN1	ORPHA:803
HP:0000739	Anxiety	1639	DCTN1	OMIM:168605
HP:0000739	Anxiety	9896	FIG4	ORPHA:803
HP:0000739	Anxiety	5444	PON1	ORPHA:803
HP:0000739	Anxiety	5446	PON3	ORPHA:803
HP:0000739	Anxiety	4744	NEFH	ORPHA:803
HP:0000739	Anxiety	5216	PFN1	ORPHA:803
HP:0000739	Anxiety	9782	MATR3	ORPHA:803
HP:0000739	Anxiety	54209	TREM2	ORPHA:803
HP:0000739	Anxiety	54209	TREM2	ORPHA:100070
HP:0000739	Anxiety	283	ANG	ORPHA:803
HP:0000739	Anxiety	23435	TARDBP	ORPHA:803
HP:0000739	Anxiety	29978	UBQLN2	ORPHA:803
HP:0000739	Anxiety	2733	GLE1	ORPHA:803
HP:0000739	Anxiety	2521	FUS	ORPHA:803
HP:0000739	Anxiety	4750	NEK1	ORPHA:803
HP:0000739	Anxiety	2043	EPHA4	ORPHA:803
HP:0000739	Anxiety	6311	ATXN2	ORPHA:803
HP:0000739	Anxiety	1610	DAO	ORPHA:803
HP:0000739	Anxiety	2066	ERBB4	ORPHA:803
HP:0000739	Anxiety	311	ANXA11	ORPHA:803
HP:0000739	Anxiety	23025	UNC13A	ORPHA:803
HP:0000739	Anxiety	899	CCNF	ORPHA:803
HP:0000739	Anxiety	400916	CHCHD10	ORPHA:803
HP:0000739	Anxiety	27286	SRPX2	ORPHA:1945
HP:0000739	Anxiety	2778	GNAS	ORPHA:79443
HP:0000739	Anxiety	2778	GNAS	ORPHA:79444
HP:0000739	Anxiety	2778	GNAS	OMIM:219080
HP:0000739	Anxiety	2778	GNAS	ORPHA:94089
HP:0000739	Anxiety	3339	HSPG2	ORPHA:800
HP:0000739	Anxiety	84978	FRMD5	OMIM:620094
HP:0000739	Anxiety	5654	HTRA1	OMIM:600142
HP:0000739	Anxiety	11277	TREX1	ORPHA:247691
HP:0000739	Anxiety	79734	KCTD17	OMIM:616398
HP:0000739	Anxiety	79734	KCTD17	ORPHA:36899
HP:0000739	Anxiety	80199	FUZ	ORPHA:1136
HP:0000739	Anxiety	11232	POLG2	OMIM:619425
HP:0000739	Anxiety	11232	POLG2	ORPHA:254892
HP:0000739	Anxiety	1642	DDB1	OMIM:619426
HP:0000739	Anxiety	196528	ARID2	OMIM:617808
HP:0000739	Anxiety	1801	DPH1	ORPHA:459061
HP:0000739	Anxiety	5663	PSEN1	ORPHA:100070
HP:0000739	Anxiety	2896	GRN	ORPHA:100070
HP:0000739	Anxiety	54664	TMEM106B	ORPHA:100070
HP:0000739	Anxiety	1203	CLN5	ORPHA:228360
HP:0000739	Anxiety	291	SLC25A4	ORPHA:254892
HP:0000739	Anxiety	5428	POLG	ORPHA:254892
HP:0000739	Anxiety	56652	TWNK	ORPHA:254892
HP:0000739	Anxiety	81848	SPRY4	ORPHA:432
HP:0000739	Anxiety	128674	PROKR2	ORPHA:432
HP:0000739	Anxiety	60675	PROK2	ORPHA:432
HP:0000739	Anxiety	55636	CHD7	ORPHA:432
HP:0000739	Anxiety	6870	TACR3	ORPHA:432
HP:0000739	Anxiety	1848	DUSP6	ORPHA:432
HP:0000739	Anxiety	26012	NSMF	ORPHA:432
HP:0000739	Anxiety	55717	WDR11	ORPHA:432
HP:0000739	Anxiety	9394	HS6ST1	ORPHA:432
HP:0000739	Anxiety	2796	GNRH1	ORPHA:432
HP:0000739	Anxiety	2798	GNRHR	ORPHA:432
HP:0000739	Anxiety	84634	KISS1R	ORPHA:432
HP:0000739	Anxiety	6866	TAC3	ORPHA:432
HP:0000739	Anxiety	8822	FGF17	ORPHA:432
HP:0000739	Anxiety	3814	KISS1	ORPHA:432
HP:0000739	Anxiety	57526	PCDH19	ORPHA:101039
HP:0000739	Anxiety	57526	PCDH19	ORPHA:33069
HP:0000739	Anxiety	4558	MT-TF	ORPHA:550
HP:0000739	Anxiety	4572	MT-TQ	ORPHA:550
HP:0000739	Anxiety	4512	MT-CO1	ORPHA:550
HP:0000739	Anxiety	4513	MT-CO2	ORPHA:550
HP:0000739	Anxiety	4514	MT-CO3	ORPHA:550
HP:0000739	Anxiety	4578	MT-TW	ORPHA:550
HP:0000739	Anxiety	4540	MT-ND5	ORPHA:550
HP:0000739	Anxiety	4541	MT-ND6	ORPHA:550
HP:0000739	Anxiety	4535	MT-ND1	ORPHA:550
HP:0000739	Anxiety	4538	MT-ND4	ORPHA:550
HP:0000739	Anxiety	4567	MT-TL1	ORPHA:550
HP:0000739	Anxiety	4574	MT-TS1	ORPHA:550
HP:0000739	Anxiety	4575	MT-TS2	ORPHA:550
HP:0000739	Anxiety	4575	MT-TS2	ORPHA:231183
HP:0000739	Anxiety	4564	MT-TH	ORPHA:550
HP:0000739	Anxiety	7080	NKX2-1	OMIM:118700
HP:0000739	Anxiety	11133	KPTN	OMIM:615637
HP:0000739	Anxiety	11133	KPTN	ORPHA:397612
HP:0000739	Anxiety	2767	GNA11	ORPHA:428
HP:0000739	Anxiety	846	CASR	ORPHA:428
HP:0000739	Anxiety	79813	EHMT1	ORPHA:96147
HP:0000739	Anxiety	8675	STX16	ORPHA:94089
HP:0000739	Anxiety	26115	TANC2	OMIM:618906
HP:0000739	Anxiety	23114	NFASC	OMIM:618356
HP:0000739	Anxiety	2782	GNB1	OMIM:616973
HP:0000739	Anxiety	23314	SATB2	ORPHA:251019
HP:0000739	Anxiety	5053	PAH	OMIM:261600
HP:0000739	Anxiety	3097	HIVEP2	OMIM:616977
HP:0000739	Anxiety	4952	OCRL	ORPHA:534
HP:0000739	Anxiety	2592	GALT	ORPHA:79239
HP:0000739	Anxiety	55777	MBD5	OMIM:156200
HP:0000739	Anxiety	51132	RLIM	OMIM:300978
HP:0000739	Anxiety	24140	FTSJ1	OMIM:309549
HP:0000739	Anxiety	7468	NSD2	OMIM:619695
HP:0000739	Anxiety	1737	DLAT	ORPHA:79244
HP:0000739	Anxiety	1312	COMT	ORPHA:567
HP:0000739	Anxiety	1312	COMT	OMIM:167870
HP:0000739	Anxiety	221037	JMJD1C	ORPHA:567
HP:0000739	Anxiety	2812	GP1BB	ORPHA:567
HP:0000739	Anxiety	6239	RREB1	ORPHA:567
HP:0000739	Anxiety	7290	HIRA	ORPHA:567
HP:0000739	Anxiety	9632	SEC24C	ORPHA:567
HP:0000739	Anxiety	7353	UFD1	ORPHA:567
HP:0000739	Anxiety	421	ARVCF	ORPHA:567
HP:0000739	Anxiety	2717	GLA	ORPHA:324
HP:0000739	Anxiety	1000	CDH2	OMIM:618929
HP:0000739	Anxiety	2898	GRIK2	OMIM:619580
HP:0000739	Anxiety	1137	CHRNA4	ORPHA:98784
HP:0000739	Anxiety	1135	CHRNA2	ORPHA:98784
HP:0000739	Anxiety	57010	CABP4	ORPHA:98784
HP:0000739	Anxiety	1141	CHRNB2	ORPHA:98784
HP:0000739	Anxiety	57582	KCNT1	ORPHA:98784
HP:0000739	Anxiety	1392	CRH	ORPHA:98784
HP:0000739	Anxiety	9681	DEPDC5	ORPHA:98784
HP:0000739	Anxiety	23111	SPART	ORPHA:101000
HP:0000739	Anxiety	23258	DENND5A	OMIM:617281
HP:0000739	Anxiety	1813	DRD2	ORPHA:36899
HP:0000739	Anxiety	8910	SGCE	ORPHA:36899
HP:0000739	Anxiety	8910	SGCE	OMIM:159900
HP:0000739	Anxiety	1861	TOR1A	ORPHA:36899
HP:0000739	Anxiety	164	AP1G1	OMIM:619467
HP:0000739	Anxiety	5718	PSMD12	ORPHA:529962
HP:0000739	Anxiety	2186	BPTF	ORPHA:529962
HP:0000739	Anxiety	26040	SETBP1	OMIM:616078
HP:0000739	Anxiety	3188	HNRNPH2	OMIM:300986
HP:0000739	Anxiety	23152	CIC	OMIM:617600
HP:0000739	Anxiety	23384	SPECC1L	OMIM:145420
HP:0000739	Anxiety	10046	MAMLD1	ORPHA:95706
HP:0000739	Anxiety	367	AR	ORPHA:95706
HP:0000739	Anxiety	57187	THOC2	ORPHA:457240
HP:0000739	Anxiety	57187	THOC2	OMIM:300957
HP:0000739	Anxiety	6638	SNRPN	ORPHA:177907
HP:0000739	Anxiety	5498	PPOX	ORPHA:79473
HP:0000739	Anxiety	773	CACNA1A	OMIM:141500
HP:0000739	Anxiety	23476	BRD4	ORPHA:199
HP:0000739	Anxiety	9126	SMC3	ORPHA:199
HP:0000739	Anxiety	8243	SMC1A	ORPHA:199
HP:0000739	Anxiety	8243	SMC1A	ORPHA:220386
HP:0000739	Anxiety	25836	NIPBL	ORPHA:199
HP:0000739	Anxiety	55869	HDAC8	ORPHA:199
HP:0000739	Anxiety	5885	RAD21	ORPHA:199
HP:0000739	Anxiety	57338	JPH3	OMIM:606438
HP:0000739	Anxiety	9757	KMT2B	ORPHA:589618
HP:0000739	Anxiety	7399	USH2A	ORPHA:231178
HP:0000739	Anxiety	79955	PDZD7	ORPHA:231178
HP:0000739	Anxiety	4647	MYO7A	ORPHA:231178
HP:0000739	Anxiety	4647	MYO7A	ORPHA:231169
HP:0000739	Anxiety	25861	WHRN	ORPHA:231178
HP:0000739	Anxiety	6711	SPTBN1	OMIM:619475
HP:0000739	Anxiety	2643	GCH1	ORPHA:98808
HP:0000739	Anxiety	4929	NR4A2	ORPHA:98808
HP:0000739	Anxiety	3615	IMPDH2	ORPHA:98808
HP:0000739	Anxiety	4221	MEN1	ORPHA:97279
HP:0000739	Anxiety	63932	STEEP1	OMIM:301013
HP:0000739	Anxiety	7504	XK	OMIM:300842
HP:0000739	Anxiety	6872	TAF1	OMIM:300966
HP:0000739	Anxiety	2760	GM2A	ORPHA:309246
HP:0000739	Anxiety	23067	SETD1B	OMIM:619000
HP:0000739	Anxiety	5500	PPP1CB	OMIM:617506
HP:0000739	Anxiety	55164	SHQ1	OMIM:619922
HP:0000739	Anxiety	3145	HMBS	OMIM:176000
HP:0000739	Anxiety	3145	HMBS	ORPHA:79276
HP:0000739	Anxiety	7401	CLRN1	ORPHA:231183
HP:0000739	Anxiety	22901	ARSG	ORPHA:231183
HP:0000739	Anxiety	3035	HARS1	ORPHA:231183
HP:0000739	Anxiety	84131	CEP78	ORPHA:231183
HP:0000739	Anxiety	407975	MIR17HG	ORPHA:391646
HP:0000739	Anxiety	7428	VHL	ORPHA:892
HP:0000739	Anxiety	595	CCND1	ORPHA:892
HP:0000739	Anxiety	4841	NONO	ORPHA:466791
HP:0000739	Anxiety	10846	PDE10A	ORPHA:494541
HP:0000739	Anxiety	10084	PQBP1	OMIM:309500
HP:0000739	Anxiety	210	ALAD	ORPHA:100924
HP:0000739	Anxiety	9320	TRIP12	OMIM:617752
HP:0000739	Anxiety	4781	NFIB	OMIM:618286
HP:0000739	Anxiety	55023	PHIP	OMIM:617991
HP:0000739	Anxiety	51317	PHF21A	OMIM:618725
HP:0000739	Anxiety	203190	LGI3	OMIM:620007
HP:0000739	Anxiety	6532	SLC6A4	OMIM:164230
HP:0000739	Anxiety	3356	HTR2A	OMIM:164230
HP:0000739	Anxiety	4693	NDP	ORPHA:649
HP:0000739	Anxiety	1371	CPOX	OMIM:121300
HP:0000739	Anxiety	11011	TLK2	OMIM:618050
HP:0000739	Anxiety	4204	MECP2	OMIM:300260
HP:0000739	Anxiety	64072	CDH23	ORPHA:231169
HP:0000739	Anxiety	10083	USH1C	ORPHA:231169
HP:0000739	Anxiety	124590	USH1G	ORPHA:231169
HP:0000739	Anxiety	83715	ESPN	ORPHA:231169
HP:0000739	Anxiety	10518	CIB2	ORPHA:231169
HP:0000739	Anxiety	65217	PCDH15	ORPHA:231169
HP:0000739	Anxiety	2182	ACSL4	OMIM:300387
HP:0000739	Anxiety	9699	RIMS2	OMIM:618970
HP:0000739	Anxiety	284361	EMC10	OMIM:619264
HP:0000739	Anxiety	2328	FMO3	ORPHA:468726
HP:0000739	Anxiety	3480	IGF1R	OMIM:270450
HP:0000739	Anxiety	1743	DLST	ORPHA:29072
HP:0000739	Anxiety	4191	MDH2	ORPHA:29072
HP:0000739	Anxiety	5979	RET	ORPHA:29072
HP:0000739	Anxiety	5979	RET	ORPHA:276621
HP:0000739	Anxiety	6389	SDHA	ORPHA:29072
HP:0000739	Anxiety	23095	KIF1B	ORPHA:29072
HP:0000739	Anxiety	2271	FH	ORPHA:29072
HP:0000739	Anxiety	8402	SLC25A11	ORPHA:29072
HP:0000739	Anxiety	54949	SDHAF2	ORPHA:29072
HP:0000739	Anxiety	55654	TMEM127	ORPHA:29072
HP:0000739	Anxiety	4763	NF1	ORPHA:29072
HP:0000739	Anxiety	6391	SDHC	ORPHA:29072
HP:0000739	Anxiety	6391	SDHC	OMIM:605373
HP:0000739	Anxiety	6392	SDHD	ORPHA:29072
HP:0000739	Anxiety	6392	SDHD	OMIM:168000
HP:0000739	Anxiety	6392	SDHD	ORPHA:276621
HP:0000739	Anxiety	6390	SDHB	ORPHA:29072
HP:0000739	Anxiety	6390	SDHB	ORPHA:276621
HP:0000739	Anxiety	6390	SDHB	OMIM:115310
HP:0000739	Anxiety	4149	MAX	ORPHA:29072
HP:0000739	Anxiety	2034	EPAS1	ORPHA:276621
HP:0010951	Abnormal third ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0010951	Abnormal third ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0010951	Abnormal third ventricle morphology	57551	TAOK1	OMIM:619575
HP:0010951	Abnormal third ventricle morphology	7874	USP7	ORPHA:500055
HP:0010951	Abnormal third ventricle morphology	57498	KIDINS220	OMIM:617296
HP:0010951	Abnormal third ventricle morphology	10159	ATP6AP2	ORPHA:363654
HP:0010951	Abnormal third ventricle morphology	9215	LARGE1	OMIM:613154
HP:0010951	Abnormal third ventricle morphology	91875	TTC5	OMIM:619244
HP:0010951	Abnormal third ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0010951	Abnormal third ventricle morphology	4953	ODC1	ORPHA:544488
HP:0010951	Abnormal third ventricle morphology	81857	MED25	ORPHA:464738
HP:0010951	Abnormal third ventricle morphology	3781	KCNN2	OMIM:619725
HP:0010951	Abnormal third ventricle morphology	1786	DNMT1	ORPHA:314404
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	ORPHA:401973
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	OMIM:300960
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	OMIM:302960
HP:0010950	Abnormal fourth ventricle morphology	56896	DPYSL5	OMIM:619435
HP:0010950	Abnormal fourth ventricle morphology	3265	HRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	3845	KRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	4893	NRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	4893	NRAS	OMIM:249400
HP:0010950	Abnormal fourth ventricle morphology	23556	PIGN	ORPHA:2059
HP:0010950	Abnormal fourth ventricle morphology	7355	SLC35A2	ORPHA:356961
HP:0010950	Abnormal fourth ventricle morphology	65062	TMEM237	OMIM:614424
HP:0010950	Abnormal fourth ventricle morphology	65062	TMEM237	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	7545	ZIC1	OMIM:616602
HP:0010950	Abnormal fourth ventricle morphology	7545	ZIC1	OMIM:618736
HP:0010950	Abnormal fourth ventricle morphology	84942	WDR73	OMIM:251300
HP:0010950	Abnormal fourth ventricle morphology	2737	GLI3	ORPHA:36
HP:0010950	Abnormal fourth ventricle morphology	374654	KIF7	ORPHA:36
HP:0010950	Abnormal fourth ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0010950	Abnormal fourth ventricle morphology	79848	CSPP1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0010950	Abnormal fourth ventricle morphology	57465	TBC1D24	OMIM:220500
HP:0010950	Abnormal fourth ventricle morphology	57465	TBC1D24	ORPHA:79500
HP:0010950	Abnormal fourth ventricle morphology	55112	DYNC2I1	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	57560	IFT80	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	57539	WDR35	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	79659	DYNC2H1	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	89891	DYNC2I2	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	1436	CSF1R	OMIM:618476
HP:0010950	Abnormal fourth ventricle morphology	84162	BLTP1	OMIM:617822
HP:0010950	Abnormal fourth ventricle morphology	4081	MAB21L1	OMIM:618479
HP:0010950	Abnormal fourth ventricle morphology	51259	TMEM216	OMIM:603194
HP:0010950	Abnormal fourth ventricle morphology	51259	TMEM216	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	55636	CHD7	ORPHA:138
HP:0010950	Abnormal fourth ventricle morphology	9723	SEMA3E	ORPHA:138
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	OMIM:236670
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	OMIM:613154
HP:0010950	Abnormal fourth ventricle morphology	2218	FKTN	OMIM:236670
HP:0010950	Abnormal fourth ventricle morphology	2218	FKTN	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	84892	POMGNT2	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	148789	B3GALNT2	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	1282	COL4A1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	729920	CRPPA	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	729920	CRPPA	OMIM:614643
HP:0010950	Abnormal fourth ventricle morphology	10329	RXYLT1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	1605	DAG1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	11041	B4GAT1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	11041	B4GAT1	OMIM:615287
HP:0010950	Abnormal fourth ventricle morphology	79068	FTO	OMIM:612938
HP:0010950	Abnormal fourth ventricle morphology	57492	ARID1B	OMIM:135900
HP:0010950	Abnormal fourth ventricle morphology	57492	ARID1B	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	3899	AFF3	OMIM:619297
HP:0010950	Abnormal fourth ventricle morphology	6597	SMARCA4	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6597	SMARCA4	OMIM:614609
HP:0010950	Abnormal fourth ventricle morphology	6598	SMARCB1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6598	SMARCB1	OMIM:614608
HP:0010950	Abnormal fourth ventricle morphology	6659	SOX4	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	8289	ARID1A	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	8289	ARID1A	OMIM:614607
HP:0010950	Abnormal fourth ventricle morphology	5977	DPF2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6601	SMARCC2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6602	SMARCD1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	196528	ARID2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6605	SMARCE1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6605	SMARCE1	OMIM:616938
HP:0010950	Abnormal fourth ventricle morphology	6664	SOX11	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	ORPHA:2834
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	OMIM:219200
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	1801	DPH1	OMIM:616901
HP:0010950	Abnormal fourth ventricle morphology	1801	DPH1	ORPHA:459061
HP:0010950	Abnormal fourth ventricle morphology	27315	PGAP2	OMIM:614207
HP:0010950	Abnormal fourth ventricle morphology	157570	ESCO2	ORPHA:2319
HP:0010950	Abnormal fourth ventricle morphology	5340	PLG	ORPHA:722
HP:0010950	Abnormal fourth ventricle morphology	5340	PLG	OMIM:217090
HP:0010950	Abnormal fourth ventricle morphology	1717	DHCR7	OMIM:270400
HP:0010950	Abnormal fourth ventricle morphology	84314	TMEM107	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	26123	TCTN3	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79867	TCTN2	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79600	TCTN1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	57096	RPGRIP1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	80184	CEP290	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	80184	CEP290	OMIM:611134
HP:0010950	Abnormal fourth ventricle morphology	57545	CC2D2A	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79583	TMEM231	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79583	TMEM231	ORPHA:2752
HP:0010950	Abnormal fourth ventricle morphology	79770	TXNDC15	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	27077	B9D1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	23322	RPGRIP1L	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	OMIM:267010
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	OMIM:208540
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	ORPHA:3032
HP:0010950	Abnormal fourth ventricle morphology	23258	DENND5A	OMIM:617281
HP:0010950	Abnormal fourth ventricle morphology	171023	ASXL1	ORPHA:97297
HP:0010950	Abnormal fourth ventricle morphology	171023	ASXL1	OMIM:605039
HP:0010950	Abnormal fourth ventricle morphology	9184	BUB3	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	699	BUB1	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	9702	CEP57	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	9319	TRIP13	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	701	BUB1B	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	701	BUB1B	OMIM:257300
HP:0010950	Abnormal fourth ventricle morphology	84188	FAR1	ORPHA:438178
HP:0010950	Abnormal fourth ventricle morphology	84188	FAR1	OMIM:616154
HP:0010950	Abnormal fourth ventricle morphology	2260	FGFR1	OMIM:613001
HP:0010950	Abnormal fourth ventricle morphology	124997	WDR81	OMIM:617967
HP:0010950	Abnormal fourth ventricle morphology	2683	B4GALT1	OMIM:607091
HP:0010950	Abnormal fourth ventricle morphology	2683	B4GALT1	ORPHA:79332
HP:0010950	Abnormal fourth ventricle morphology	26227	PHGDH	OMIM:256520
HP:0010950	Abnormal fourth ventricle morphology	10804	GJB6	ORPHA:477
HP:0010950	Abnormal fourth ventricle morphology	2706	GJB2	ORPHA:477
HP:0010950	Abnormal fourth ventricle morphology	4927	NUP88	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	4654	MYOD1	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	4593	MUSK	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	5913	RAPSN	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	6572	SLC18A3	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	285489	DOK7	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	7737	RNF113A	OMIM:300953
HP:0010950	Abnormal fourth ventricle morphology	56006	SMG9	OMIM:616920
HP:0010950	Abnormal fourth ventricle morphology	998	CDC42	ORPHA:487796
HP:0010950	Abnormal fourth ventricle morphology	51524	TMEM138	OMIM:614465
HP:0010950	Abnormal fourth ventricle morphology	11128	POLR3A	OMIM:264090
HP:0010950	Abnormal fourth ventricle morphology	4534	MTM1	OMIM:310400
HP:0010950	Abnormal fourth ventricle morphology	526	ATP6V1B2	ORPHA:79500
HP:0010950	Abnormal fourth ventricle morphology	54880	BCOR	OMIM:300166
HP:0010950	Abnormal fourth ventricle morphology	55640	FLVCR2	OMIM:225790
HP:0010950	Abnormal fourth ventricle morphology	28952	CCDC22	OMIM:300963
HP:0010950	Abnormal fourth ventricle morphology	28952	CCDC22	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	80210	ARMC9	OMIM:617622
HP:0010950	Abnormal fourth ventricle morphology	5500	PPP1CB	OMIM:617506
HP:0010950	Abnormal fourth ventricle morphology	54676	GTPBP2	OMIM:617988
HP:0010950	Abnormal fourth ventricle morphology	63895	PIEZO2	OMIM:248700
HP:0010950	Abnormal fourth ventricle morphology	9897	WASHC5	OMIM:220210
HP:0010950	Abnormal fourth ventricle morphology	9897	WASHC5	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	2239	GPC4	ORPHA:373
HP:0010950	Abnormal fourth ventricle morphology	2719	GPC3	ORPHA:373
HP:0010950	Abnormal fourth ventricle morphology	23007	PLCH1	OMIM:619895
HP:0010950	Abnormal fourth ventricle morphology	2121	EVC	OMIM:225500
HP:0010950	Abnormal fourth ventricle morphology	132884	EVC2	OMIM:225500
HP:0010950	Abnormal fourth ventricle morphology	153241	CEP120	OMIM:616300
HP:0010950	Abnormal fourth ventricle morphology	523	ATP6V1A	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	529	ATP6V1E1	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	3798	KIF5A	OMIM:617235
HP:0010950	Abnormal fourth ventricle morphology	1028	CDKN1C	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	10984	KCNQ1OT1	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	3481	IGF2	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	3784	KCNQ1	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	738	VPS51	OMIM:618606
HP:0010950	Abnormal fourth ventricle morphology	1376	CPT2	ORPHA:228305
HP:0010950	Abnormal fourth ventricle morphology	10195	ALG3	ORPHA:79321
HP:0010950	Abnormal fourth ventricle morphology	8481	OFD1	ORPHA:2750
HP:0010950	Abnormal fourth ventricle morphology	219844	HYLS1	OMIM:236680
HP:0010950	Abnormal fourth ventricle morphology	4281	MID1	ORPHA:2745
HP:0010950	Abnormal fourth ventricle morphology	8905	AP1S2	OMIM:304340
HP:0010950	Abnormal fourth ventricle morphology	7846	TUBA1A	ORPHA:171680
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	OMIM:109150
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276244
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276241
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276238
HP:0010950	Abnormal fourth ventricle morphology	203068	TUBB	OMIM:615771
HP:0010950	Abnormal fourth ventricle morphology	116228	COX20	OMIM:619054
HP:0010950	Abnormal fourth ventricle morphology	5879	RAC1	OMIM:617751
HP:0010950	Abnormal fourth ventricle morphology	123606	NIPA1	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	7283	TUBG1	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	81614	NIPA2	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0010950	Abnormal fourth ventricle morphology	8573	CASK	OMIM:300749
HP:0010950	Abnormal fourth ventricle morphology	267010	RNU12	OMIM:620208
HP:0010950	Abnormal fourth ventricle morphology	4361	MRE11	ORPHA:251347
HP:0010950	Abnormal fourth ventricle morphology	8239	USP9X	ORPHA:480880
HP:0010950	Abnormal fourth ventricle morphology	91147	TMEM67	OMIM:610688
HP:0010950	Abnormal fourth ventricle morphology	23203	PMPCA	OMIM:213200
HP:0010950	Abnormal fourth ventricle morphology	23203	PMPCA	ORPHA:1170
HP:0010950	Abnormal fourth ventricle morphology	29925	GMPPB	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	79147	FKRP	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	29954	POMT2	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	84197	POMK	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	55624	POMGNT1	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	10585	POMT1	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	54903	MKS1	OMIM:249000
HP:0010950	Abnormal fourth ventricle morphology	6311	ATXN2	OMIM:183090
HP:0010950	Abnormal fourth ventricle morphology	80776	B9D2	OMIM:614175
HP:0010950	Abnormal fourth ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0010950	Abnormal fourth ventricle morphology	284217	LAMA1	OMIM:615960
HP:0010950	Abnormal fourth ventricle morphology	284217	LAMA1	ORPHA:370022
HP:0010950	Abnormal fourth ventricle morphology	10352	WARS2	ORPHA:572798
HP:0010950	Abnormal fourth ventricle morphology	4208	MEF2C	OMIM:613443
HP:0010950	Abnormal fourth ventricle morphology	2911	GRM1	OMIM:614831
HP:0010950	Abnormal fourth ventricle morphology	55770	EXOC2	OMIM:619306
HP:0010950	Abnormal fourth ventricle morphology	79971	WLS	OMIM:619648
HP:0010950	Abnormal fourth ventricle morphology	6310	ATXN1	OMIM:164400
HP:0010950	Abnormal fourth ventricle morphology	5373	PMM2	OMIM:212065
HP:0010953	Noncommunicating hydrocephalus	2302	FOXJ1	OMIM:618699
HP:0010953	Noncommunicating hydrocephalus	3458	IFNG	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	7248	TSC1	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	7249	TSC2	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	29998	BICRA	OMIM:619325
HP:0010953	Noncommunicating hydrocephalus	6599	SMARCC1	OMIM:620241
HP:0010953	Noncommunicating hydrocephalus	23030	KDM4B	OMIM:619320
HP:0010954	Hypoplastic right heart	523	ATP6V1A	OMIM:617403
HP:0010954	Hypoplastic right heart	1857	DVL3	OMIM:616894
HP:0010954	Hypoplastic right heart	348180	CTU2	OMIM:618142
HP:0010955	Dilatation of the bladder	4629	MYH11	OMIM:619350
HP:0010955	Dilatation of the bladder	4629	MYH11	OMIM:619351
HP:0010955	Dilatation of the bladder	4629	MYH11	ORPHA:2241
HP:0010955	Dilatation of the bladder	72	ACTG2	OMIM:155310
HP:0010955	Dilatation of the bladder	72	ACTG2	OMIM:619431
HP:0010955	Dilatation of the bladder	72	ACTG2	ORPHA:2604
HP:0010955	Dilatation of the bladder	72	ACTG2	ORPHA:2241
HP:0010955	Dilatation of the bladder	25802	LMOD1	OMIM:619362
HP:0010955	Dilatation of the bladder	25802	LMOD1	ORPHA:2241
HP:0010955	Dilatation of the bladder	9860	LRIG2	OMIM:615112
HP:0010955	Dilatation of the bladder	554	AVPR2	OMIM:304800
HP:0010955	Dilatation of the bladder	10398	MYL9	OMIM:619365
HP:0010955	Dilatation of the bladder	359	AQP2	OMIM:125800
HP:0010955	Dilatation of the bladder	4638	MYLK	ORPHA:2241
HP:0010955	Dilatation of the bladder	7080	NKX2-1	ORPHA:209905
HP:0010955	Dilatation of the bladder	8626	TP63	OMIM:604292
HP:0010955	Dilatation of the bladder	2294	FOXF1	OMIM:265380
HP:0010955	Dilatation of the bladder	93649	MYOCD	OMIM:618719
HP:0010956	Fetal megacystis	4638	MYLK	OMIM:249210
HP:0010956	Fetal megacystis	4629	MYH11	OMIM:619351
HP:0010956	Fetal megacystis	25802	LMOD1	OMIM:619362
HP:0010956	Fetal megacystis	93649	MYOCD	OMIM:618719
HP:0010957	Congenital posterior urethral valve	3187	HNRNPH1	OMIM:620083
HP:0010957	Congenital posterior urethral valve	54796	BNC2	OMIM:618612
HP:0010957	Congenital posterior urethral valve	54796	BNC2	ORPHA:93110
HP:0010957	Congenital posterior urethral valve	10847	SRCAP	ORPHA:2044
HP:0010957	Congenital posterior urethral valve	10847	SRCAP	OMIM:136140
HP:0010957	Congenital posterior urethral valve	4281	MID1	OMIM:300000
HP:0010957	Congenital posterior urethral valve	1131	CHRM3	ORPHA:2970
HP:0010957	Congenital posterior urethral valve	1131	CHRM3	OMIM:100100
HP:0010957	Congenital posterior urethral valve	3481	IGF2	OMIM:180860
HP:0010957	Congenital posterior urethral valve	64324	NSD1	ORPHA:821
HP:0010957	Congenital posterior urethral valve	29072	SETD2	ORPHA:821
HP:0010957	Congenital posterior urethral valve	10297	APC2	ORPHA:821
HP:0010958	Bilateral renal agenesis	23426	GRIP1	OMIM:617667
HP:0010958	Bilateral renal agenesis	26281	FGF20	OMIM:615721
HP:0010958	Bilateral renal agenesis	2737	GLI3	ORPHA:672
HP:0010958	Bilateral renal agenesis	9653	HS2ST1	OMIM:619194
HP:0010958	Bilateral renal agenesis	341640	FREM2	OMIM:617666
HP:0010958	Bilateral renal agenesis	9928	KIF14	OMIM:616258
HP:0010958	Bilateral renal agenesis	9928	KIF14	OMIM:617914
HP:0010958	Bilateral renal agenesis	2674	GFRA1	OMIM:619887
HP:0010958	Bilateral renal agenesis	55191	NADSYN1	OMIM:618845
HP:0010958	Bilateral renal agenesis	8516	ITGA8	OMIM:191830
HP:0010952	Mild fetal ventriculomegaly	55252	ASXL2	OMIM:617190
HP:0010952	Mild fetal ventriculomegaly	51021	MRPS16	OMIM:610498
HP:0010952	Mild fetal ventriculomegaly	9578	CDC42BPB	OMIM:619841
HP:0010952	Mild fetal ventriculomegaly	56896	DPYSL5	OMIM:619435
HP:0007900	Hypoplastic lacrimal duct	2263	FGFR2	OMIM:149730
HP:0007900	Hypoplastic lacrimal duct	1281	COL3A1	ORPHA:286
HP:0007902	Vitreous hemorrhage	8322	FZD4	OMIM:133780
HP:0007902	Vitreous hemorrhage	8322	FZD4	ORPHA:891
HP:0007902	Vitreous hemorrhage	8322	FZD4	ORPHA:90050
HP:0007902	Vitreous hemorrhage	4041	LRP5	OMIM:133780
HP:0007902	Vitreous hemorrhage	4041	LRP5	ORPHA:891
HP:0007902	Vitreous hemorrhage	4041	LRP5	ORPHA:90050
HP:0007902	Vitreous hemorrhage	4041	LRP5	OMIM:601813
HP:0007902	Vitreous hemorrhage	4693	NDP	ORPHA:891
HP:0007902	Vitreous hemorrhage	4693	NDP	ORPHA:90050
HP:0007902	Vitreous hemorrhage	1499	CTNNB1	ORPHA:891
HP:0007902	Vitreous hemorrhage	23554	TSPAN12	ORPHA:891
HP:0007902	Vitreous hemorrhage	79797	ZNF408	ORPHA:891
HP:0007902	Vitreous hemorrhage	726	CAPN5	OMIM:193235
HP:0007902	Vitreous hemorrhage	7439	BEST1	OMIM:193220
HP:0007902	Vitreous hemorrhage	5624	PROC	OMIM:612304
HP:0007902	Vitreous hemorrhage	6247	RS1	OMIM:312700
HP:0007902	Vitreous hemorrhage	5925	RB1	OMIM:180200
HP:0007902	Vitreous hemorrhage	8314	BAP1	ORPHA:39044
HP:0007902	Vitreous hemorrhage	57105	CYSLTR2	ORPHA:39044
HP:0007902	Vitreous hemorrhage	2776	GNAQ	ORPHA:39044
HP:0007902	Vitreous hemorrhage	2767	GNA11	ORPHA:39044
HP:0007902	Vitreous hemorrhage	23451	SF3B1	ORPHA:39044
HP:0007902	Vitreous hemorrhage	23137	SMC5	OMIM:620185
HP:0007903	Paravenous chorioretinal atrophy	23418	CRB1	OMIM:172870
HP:0000740	Episodic paroxysmal anxiety	7428	VHL	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	7428	VHL	ORPHA:276621
HP:0000740	Episodic paroxysmal anxiety	1743	DLST	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	4191	MDH2	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	5979	RET	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	5979	RET	ORPHA:276621
HP:0000740	Episodic paroxysmal anxiety	6389	SDHA	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	23095	KIF1B	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	2271	FH	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	8402	SLC25A11	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	54949	SDHAF2	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	55654	TMEM127	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	4763	NF1	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	6391	SDHC	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	6391	SDHC	OMIM:605373
HP:0000740	Episodic paroxysmal anxiety	6392	SDHD	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	6392	SDHD	OMIM:168000
HP:0000740	Episodic paroxysmal anxiety	6392	SDHD	ORPHA:276621
HP:0000740	Episodic paroxysmal anxiety	6390	SDHB	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	6390	SDHB	ORPHA:276621
HP:0000740	Episodic paroxysmal anxiety	6390	SDHB	OMIM:115310
HP:0000740	Episodic paroxysmal anxiety	4149	MAX	ORPHA:29072
HP:0000740	Episodic paroxysmal anxiety	1788	DNMT3A	ORPHA:276621
HP:0000740	Episodic paroxysmal anxiety	2034	EPAS1	ORPHA:276621
HP:0000741	Apathy	57338	JPH3	OMIM:606438
HP:0000741	Apathy	5621	PRNP	ORPHA:282166
HP:0000741	Apathy	5621	PRNP	OMIM:123400
HP:0000741	Apathy	3064	HTT	ORPHA:399
HP:0000741	Apathy	6515	SLC2A3	ORPHA:399
HP:0000741	Apathy	5654	HTRA1	ORPHA:199354
HP:0000741	Apathy	3155	HMGCL	ORPHA:20
HP:0000741	Apathy	3155	HMGCL	OMIM:246450
HP:0000741	Apathy	4137	MAPT	OMIM:601104
HP:0000741	Apathy	4137	MAPT	OMIM:172700
HP:0000741	Apathy	4137	MAPT	ORPHA:240085
HP:0000741	Apathy	4137	MAPT	OMIM:600274
HP:0000741	Apathy	4137	MAPT	ORPHA:240112
HP:0000741	Apathy	4137	MAPT	ORPHA:275864
HP:0000741	Apathy	5663	PSEN1	OMIM:172700
HP:0000741	Apathy	5663	PSEN1	OMIM:600274
HP:0000741	Apathy	5663	PSEN1	ORPHA:275864
HP:0000741	Apathy	27235	COQ2	ORPHA:227510
HP:0000741	Apathy	27235	COQ2	ORPHA:98933
HP:0000741	Apathy	79813	EHMT1	ORPHA:96147
HP:0000741	Apathy	79813	EHMT1	OMIM:610253
HP:0000741	Apathy	2521	FUS	ORPHA:275872
HP:0000741	Apathy	8878	SQSTM1	ORPHA:275872
HP:0000741	Apathy	8878	SQSTM1	ORPHA:275864
HP:0000741	Apathy	8878	SQSTM1	OMIM:616437
HP:0000741	Apathy	7415	VCP	ORPHA:275872
HP:0000741	Apathy	7415	VCP	ORPHA:275864
HP:0000741	Apathy	23435	TARDBP	ORPHA:275872
HP:0000741	Apathy	23435	TARDBP	OMIM:612069
HP:0000741	Apathy	29110	TBK1	ORPHA:275872
HP:0000741	Apathy	29110	TBK1	OMIM:616439
HP:0000741	Apathy	400916	CHCHD10	ORPHA:275872
HP:0000741	Apathy	10102	TSFM	OMIM:610505
HP:0000741	Apathy	203228	C9orf72	OMIM:105550
HP:0000741	Apathy	2629	GBA1	OMIM:608013
HP:0000741	Apathy	2629	GBA1	ORPHA:411602
HP:0000741	Apathy	2896	GRN	OMIM:607485
HP:0000741	Apathy	2896	GRN	ORPHA:275864
HP:0000741	Apathy	3073	HEXA	OMIM:272800
HP:0000741	Apathy	25814	ATXN10	ORPHA:98761
HP:0000741	Apathy	1639	DCTN1	ORPHA:178509
HP:0000741	Apathy	1639	DCTN1	OMIM:168605
HP:0000741	Apathy	5155	PDGFB	OMIM:615483
HP:0000741	Apathy	5575	PRKAR1B	ORPHA:412066
HP:0000741	Apathy	2670	GFAP	OMIM:203450
HP:0000741	Apathy	1356	CP	ORPHA:48818
HP:0000741	Apathy	1786	DNMT1	OMIM:614116
HP:0000741	Apathy	6598	SMARCB1	ORPHA:99966
HP:0000741	Apathy	38	ACAT1	ORPHA:134
HP:0000741	Apathy	4854	NOTCH3	ORPHA:136
HP:0000741	Apathy	25978	CHMP2B	OMIM:600795
HP:0000741	Apathy	25978	CHMP2B	ORPHA:275864
HP:0000741	Apathy	5354	PLP1	OMIM:312080
HP:0000741	Apathy	210	ALAD	ORPHA:100924
HP:0000741	Apathy	2260	FGFR1	ORPHA:220386
HP:0000741	Apathy	2260	FGFR1	ORPHA:93924
HP:0000741	Apathy	28514	DLL1	ORPHA:220386
HP:0000741	Apathy	28514	DLL1	ORPHA:93926
HP:0000741	Apathy	28514	DLL1	ORPHA:93924
HP:0000741	Apathy	28514	DLL1	ORPHA:93925
HP:0000741	Apathy	10735	STAG2	ORPHA:220386
HP:0000741	Apathy	10735	STAG2	ORPHA:93925
HP:0000741	Apathy	2253	FGF8	ORPHA:220386
HP:0000741	Apathy	2253	FGF8	ORPHA:93926
HP:0000741	Apathy	2253	FGF8	ORPHA:93924
HP:0000741	Apathy	2253	FGF8	ORPHA:93925
HP:0000741	Apathy	8243	SMC1A	ORPHA:220386
HP:0000741	Apathy	6496	SIX3	ORPHA:220386
HP:0000741	Apathy	6496	SIX3	ORPHA:93926
HP:0000741	Apathy	6496	SIX3	ORPHA:93924
HP:0000741	Apathy	6496	SIX3	ORPHA:93925
HP:0000741	Apathy	7050	TGIF1	ORPHA:220386
HP:0000741	Apathy	7050	TGIF1	ORPHA:93926
HP:0000741	Apathy	7050	TGIF1	ORPHA:93924
HP:0000741	Apathy	7050	TGIF1	ORPHA:93925
HP:0000741	Apathy	4838	NODAL	ORPHA:220386
HP:0000741	Apathy	4838	NODAL	ORPHA:93926
HP:0000741	Apathy	4838	NODAL	ORPHA:93924
HP:0000741	Apathy	4838	NODAL	ORPHA:93925
HP:0000741	Apathy	6469	SHH	ORPHA:220386
HP:0000741	Apathy	6469	SHH	ORPHA:93926
HP:0000741	Apathy	6469	SHH	ORPHA:93924
HP:0000741	Apathy	6469	SHH	ORPHA:93925
HP:0000741	Apathy	7546	ZIC2	ORPHA:220386
HP:0000741	Apathy	7546	ZIC2	ORPHA:93926
HP:0000741	Apathy	7546	ZIC2	ORPHA:93924
HP:0000741	Apathy	7546	ZIC2	ORPHA:93925
HP:0000741	Apathy	6491	STIL	ORPHA:220386
HP:0000741	Apathy	6491	STIL	ORPHA:93926
HP:0000741	Apathy	6491	STIL	ORPHA:93924
HP:0000741	Apathy	6491	STIL	ORPHA:93925
HP:0000741	Apathy	2619	GAS1	ORPHA:220386
HP:0000741	Apathy	2619	GAS1	ORPHA:93926
HP:0000741	Apathy	2619	GAS1	ORPHA:93924
HP:0000741	Apathy	2619	GAS1	ORPHA:93925
HP:0000741	Apathy	84976	DISP1	ORPHA:220386
HP:0000741	Apathy	84976	DISP1	ORPHA:93926
HP:0000741	Apathy	84976	DISP1	ORPHA:93924
HP:0000741	Apathy	84976	DISP1	ORPHA:93925
HP:0000741	Apathy	2736	GLI2	ORPHA:220386
HP:0000741	Apathy	2736	GLI2	ORPHA:93926
HP:0000741	Apathy	2736	GLI2	ORPHA:93924
HP:0000741	Apathy	2736	GLI2	ORPHA:93925
HP:0000741	Apathy	8928	FOXH1	ORPHA:220386
HP:0000741	Apathy	8928	FOXH1	ORPHA:93926
HP:0000741	Apathy	8928	FOXH1	ORPHA:93924
HP:0000741	Apathy	8928	FOXH1	ORPHA:93925
HP:0000741	Apathy	5727	PTCH1	ORPHA:220386
HP:0000741	Apathy	5727	PTCH1	ORPHA:93926
HP:0000741	Apathy	5727	PTCH1	ORPHA:93924
HP:0000741	Apathy	5727	PTCH1	ORPHA:93925
HP:0000741	Apathy	50937	CDON	ORPHA:220386
HP:0000741	Apathy	50937	CDON	ORPHA:93926
HP:0000741	Apathy	50937	CDON	ORPHA:93924
HP:0000741	Apathy	50937	CDON	ORPHA:93925
HP:0000741	Apathy	654	BMP6	ORPHA:465508
HP:0000741	Apathy	3077	HFE	ORPHA:465508
HP:0000741	Apathy	54834	GDAP2	OMIM:618369
HP:0000741	Apathy	23317	DNAJC13	ORPHA:411602
HP:0000741	Apathy	1981	EIF4G1	ORPHA:411602
HP:0000741	Apathy	55737	VPS35	ORPHA:411602
HP:0000741	Apathy	120892	LRRK2	ORPHA:411602
HP:0000741	Apathy	120892	LRRK2	ORPHA:2828
HP:0000741	Apathy	26058	GIGYF2	ORPHA:411602
HP:0000741	Apathy	6622	SNCA	ORPHA:411602
HP:0000741	Apathy	6622	SNCA	ORPHA:2828
HP:0000741	Apathy	6683	SPAST	OMIM:182601
HP:0000741	Apathy	3119	HLA-DQB1	OMIM:123400
HP:0000741	Apathy	11277	TREX1	ORPHA:247691
HP:0000741	Apathy	23400	ATP13A2	ORPHA:306674
HP:0000741	Apathy	773	CACNA1A	ORPHA:71518
HP:0000741	Apathy	23230	VPS13A	ORPHA:2388
HP:0000741	Apathy	54664	TMEM106B	ORPHA:275864
HP:0000741	Apathy	54209	TREM2	ORPHA:275864
HP:0000741	Apathy	23007	PLCH1	ORPHA:93925
HP:0000741	Apathy	54832	VPS13C	ORPHA:2828
HP:0000741	Apathy	11315	PARK7	ORPHA:2828
HP:0000741	Apathy	7345	UCHL1	ORPHA:2828
HP:0000741	Apathy	27429	HTRA2	ORPHA:2828
HP:0000741	Apathy	9829	DNAJC6	ORPHA:2828
HP:0000741	Apathy	5420	PODXL	ORPHA:2828
HP:0000741	Apathy	65018	PINK1	ORPHA:2828
HP:0000741	Apathy	8867	SYNJ1	ORPHA:2828
HP:0000741	Apathy	5071	PRKN	ORPHA:2828
HP:0000741	Apathy	339453	TMEM240	OMIM:607454
HP:0000741	Apathy	2760	GM2A	OMIM:272750
HP:0000742	Self-mutilation	158	ADSL	OMIM:103050
HP:0000742	Self-mutilation	1499	CTNNB1	OMIM:615075
HP:0000742	Self-mutilation	339983	NAT8L	OMIM:614063
HP:0000742	Self-mutilation	8367	H4C5	OMIM:619950
HP:0000742	Self-mutilation	8260	NAA10	OMIM:309800
HP:0000742	Self-mutilation	54880	BCOR	OMIM:309800
HP:0000742	Self-mutilation	388662	SLC6A17	ORPHA:457212
HP:0000742	Self-mutilation	388662	SLC6A17	OMIM:616269
HP:0000742	Self-mutilation	2892	GRIA3	ORPHA:364028
HP:0000742	Self-mutilation	1387	CREBBP	OMIM:180849
HP:0000742	Self-mutilation	2033	EP300	OMIM:180849
HP:0000742	Self-mutilation	23040	MYT1L	OMIM:616521
HP:0000742	Self-mutilation	23314	SATB2	ORPHA:251028
HP:0000742	Self-mutilation	8924	HERC2	OMIM:615516
HP:0000742	Self-mutilation	56623	INPP5E	OMIM:213300
HP:0000742	Self-mutilation	3067	HDC	OMIM:137580
HP:0000742	Self-mutilation	114798	SLITRK1	OMIM:137580
HP:0000742	Self-mutilation	54499	TMCO1	OMIM:213980
HP:0000742	Self-mutilation	26047	CNTNAP2	ORPHA:163681
HP:0000742	Self-mutilation	57459	GATAD2B	ORPHA:363686
HP:0000742	Self-mutilation	4983	OPHN1	OMIM:300486
HP:0000742	Self-mutilation	6535	SLC6A8	ORPHA:52503
HP:0000742	Self-mutilation	100147744	RNU7-1	OMIM:619487
HP:0000742	Self-mutilation	11277	TREX1	OMIM:225750
HP:0000742	Self-mutilation	8567	MADD	OMIM:619004
HP:0000742	Self-mutilation	8567	MADD	OMIM:619005
HP:0000742	Self-mutilation	6857	SYT1	ORPHA:522077
HP:0000742	Self-mutilation	79868	ALG13	OMIM:300884
HP:0000742	Self-mutilation	7204	TRIO	ORPHA:476126
HP:0000742	Self-mutilation	5053	PAH	OMIM:261600
HP:0000742	Self-mutilation	54820	NDE1	OMIM:605013
HP:0000742	Self-mutilation	113246	C12orf57	OMIM:218340
HP:0000742	Self-mutilation	284403	WDR62	OMIM:604317
HP:0000742	Self-mutilation	818	CAMK2G	OMIM:618522
HP:0000742	Self-mutilation	10743	RAI1	OMIM:182290
HP:0000742	Self-mutilation	8218	CLTCL1	ORPHA:453510
HP:0000742	Self-mutilation	2917	GRM7	OMIM:618922
HP:0000742	Self-mutilation	51574	LARP7	ORPHA:319671
HP:0000742	Self-mutilation	549	AUH	OMIM:250950
HP:0000742	Self-mutilation	1717	DHCR7	OMIM:270400
HP:0000742	Self-mutilation	4914	NTRK1	ORPHA:642
HP:0000742	Self-mutilation	4914	NTRK1	OMIM:256800
HP:0000742	Self-mutilation	55181	SMG8	OMIM:619268
HP:0000742	Self-mutilation	10533	ATG7	OMIM:619422
HP:0000742	Self-mutilation	1806	DPYD	ORPHA:293948
HP:0000742	Self-mutilation	79583	TMEM231	OMIM:614970
HP:0000742	Self-mutilation	55636	CHD7	OMIM:214800
HP:0000742	Self-mutilation	57187	THOC2	ORPHA:457240
HP:0000742	Self-mutilation	4247	MGAT2	OMIM:212066
HP:0000742	Self-mutilation	3251	HPRT1	ORPHA:79233
HP:0000742	Self-mutilation	23230	VPS13A	ORPHA:2388
HP:0000742	Self-mutilation	23230	VPS13A	OMIM:200150
HP:0000744	Low frustration tolerance	6595	SMARCA2	OMIM:619293
HP:0000744	Low frustration tolerance	22827	PUF60	ORPHA:508488
HP:0000744	Low frustration tolerance	57459	GATAD2B	ORPHA:363686
HP:0000744	Low frustration tolerance	4983	OPHN1	OMIM:300486
HP:0000744	Low frustration tolerance	8242	KDM5C	OMIM:300534
HP:0000744	Low frustration tolerance	4297	KMT2A	ORPHA:319182
HP:0000744	Low frustration tolerance	5528	PPP2R5D	ORPHA:457279
HP:0000744	Low frustration tolerance	4128	MAOA	OMIM:300615
HP:0000744	Low frustration tolerance	2783	GNB2	OMIM:619503
HP:0000744	Low frustration tolerance	2629	GBA1	ORPHA:411602
HP:0000744	Low frustration tolerance	23317	DNAJC13	ORPHA:411602
HP:0000744	Low frustration tolerance	1981	EIF4G1	ORPHA:411602
HP:0000744	Low frustration tolerance	55737	VPS35	ORPHA:411602
HP:0000744	Low frustration tolerance	120892	LRRK2	ORPHA:411602
HP:0000744	Low frustration tolerance	26058	GIGYF2	ORPHA:411602
HP:0000744	Low frustration tolerance	6622	SNCA	ORPHA:411602
HP:0000744	Low frustration tolerance	9968	MED12	OMIM:309520
HP:0000744	Low frustration tolerance	26047	CNTNAP2	ORPHA:163681
HP:0000745	Diminished motivation	3064	HTT	ORPHA:399
HP:0000745	Diminished motivation	6515	SLC2A3	ORPHA:399
HP:0000745	Diminished motivation	3155	HMGCL	ORPHA:20
HP:0000745	Diminished motivation	3155	HMGCL	OMIM:246450
HP:0000745	Diminished motivation	27235	COQ2	ORPHA:227510
HP:0000745	Diminished motivation	27235	COQ2	ORPHA:98933
HP:0000745	Diminished motivation	79813	EHMT1	ORPHA:96147
HP:0000745	Diminished motivation	79813	EHMT1	OMIM:610253
HP:0000745	Diminished motivation	2521	FUS	ORPHA:275872
HP:0000745	Diminished motivation	23435	TARDBP	ORPHA:275872
HP:0000745	Diminished motivation	23435	TARDBP	OMIM:612069
HP:0000745	Diminished motivation	29110	TBK1	ORPHA:275872
HP:0000745	Diminished motivation	29110	TBK1	OMIM:616439
HP:0000745	Diminished motivation	400916	CHCHD10	ORPHA:275872
HP:0000745	Diminished motivation	10102	TSFM	OMIM:610505
HP:0000745	Diminished motivation	203228	C9orf72	OMIM:105550
HP:0000745	Diminished motivation	2629	GBA1	OMIM:608013
HP:0000745	Diminished motivation	2629	GBA1	ORPHA:411602
HP:0000745	Diminished motivation	3073	HEXA	OMIM:272800
HP:0000745	Diminished motivation	25814	ATXN10	ORPHA:98761
HP:0000745	Diminished motivation	1639	DCTN1	ORPHA:178509
HP:0000745	Diminished motivation	1639	DCTN1	OMIM:168605
HP:0000745	Diminished motivation	5155	PDGFB	OMIM:615483
HP:0000745	Diminished motivation	2670	GFAP	OMIM:203450
HP:0000745	Diminished motivation	1356	CP	ORPHA:48818
HP:0000745	Diminished motivation	1786	DNMT1	OMIM:614116
HP:0000745	Diminished motivation	6598	SMARCB1	ORPHA:99966
HP:0000745	Diminished motivation	38	ACAT1	ORPHA:134
HP:0000745	Diminished motivation	5354	PLP1	OMIM:312080
HP:0000745	Diminished motivation	210	ALAD	ORPHA:100924
HP:0000745	Diminished motivation	2260	FGFR1	ORPHA:220386
HP:0000745	Diminished motivation	2260	FGFR1	ORPHA:93924
HP:0000745	Diminished motivation	28514	DLL1	ORPHA:220386
HP:0000745	Diminished motivation	28514	DLL1	ORPHA:93926
HP:0000745	Diminished motivation	28514	DLL1	ORPHA:93924
HP:0000745	Diminished motivation	28514	DLL1	ORPHA:93925
HP:0000745	Diminished motivation	10735	STAG2	ORPHA:220386
HP:0000745	Diminished motivation	10735	STAG2	ORPHA:93925
HP:0000745	Diminished motivation	2253	FGF8	ORPHA:220386
HP:0000745	Diminished motivation	2253	FGF8	ORPHA:93926
HP:0000745	Diminished motivation	2253	FGF8	ORPHA:93924
HP:0000745	Diminished motivation	2253	FGF8	ORPHA:93925
HP:0000745	Diminished motivation	8243	SMC1A	ORPHA:220386
HP:0000745	Diminished motivation	6496	SIX3	ORPHA:220386
HP:0000745	Diminished motivation	6496	SIX3	ORPHA:93926
HP:0000745	Diminished motivation	6496	SIX3	ORPHA:93924
HP:0000745	Diminished motivation	6496	SIX3	ORPHA:93925
HP:0000745	Diminished motivation	7050	TGIF1	ORPHA:220386
HP:0000745	Diminished motivation	7050	TGIF1	ORPHA:93926
HP:0000745	Diminished motivation	7050	TGIF1	ORPHA:93924
HP:0000745	Diminished motivation	7050	TGIF1	ORPHA:93925
HP:0000745	Diminished motivation	4838	NODAL	ORPHA:220386
HP:0000745	Diminished motivation	4838	NODAL	ORPHA:93926
HP:0000745	Diminished motivation	4838	NODAL	ORPHA:93924
HP:0000745	Diminished motivation	4838	NODAL	ORPHA:93925
HP:0000745	Diminished motivation	6469	SHH	ORPHA:220386
HP:0000745	Diminished motivation	6469	SHH	ORPHA:93926
HP:0000745	Diminished motivation	6469	SHH	ORPHA:93924
HP:0000745	Diminished motivation	6469	SHH	ORPHA:93925
HP:0000745	Diminished motivation	7546	ZIC2	ORPHA:220386
HP:0000745	Diminished motivation	7546	ZIC2	ORPHA:93926
HP:0000745	Diminished motivation	7546	ZIC2	ORPHA:93924
HP:0000745	Diminished motivation	7546	ZIC2	ORPHA:93925
HP:0000745	Diminished motivation	6491	STIL	ORPHA:220386
HP:0000745	Diminished motivation	6491	STIL	ORPHA:93926
HP:0000745	Diminished motivation	6491	STIL	ORPHA:93924
HP:0000745	Diminished motivation	6491	STIL	ORPHA:93925
HP:0000745	Diminished motivation	2619	GAS1	ORPHA:220386
HP:0000745	Diminished motivation	2619	GAS1	ORPHA:93926
HP:0000745	Diminished motivation	2619	GAS1	ORPHA:93924
HP:0000745	Diminished motivation	2619	GAS1	ORPHA:93925
HP:0000745	Diminished motivation	84976	DISP1	ORPHA:220386
HP:0000745	Diminished motivation	84976	DISP1	ORPHA:93926
HP:0000745	Diminished motivation	84976	DISP1	ORPHA:93924
HP:0000745	Diminished motivation	84976	DISP1	ORPHA:93925
HP:0000745	Diminished motivation	2736	GLI2	ORPHA:220386
HP:0000745	Diminished motivation	2736	GLI2	ORPHA:93926
HP:0000745	Diminished motivation	2736	GLI2	ORPHA:93924
HP:0000745	Diminished motivation	2736	GLI2	ORPHA:93925
HP:0000745	Diminished motivation	8928	FOXH1	ORPHA:220386
HP:0000745	Diminished motivation	8928	FOXH1	ORPHA:93926
HP:0000745	Diminished motivation	8928	FOXH1	ORPHA:93924
HP:0000745	Diminished motivation	8928	FOXH1	ORPHA:93925
HP:0000745	Diminished motivation	5727	PTCH1	ORPHA:220386
HP:0000745	Diminished motivation	5727	PTCH1	ORPHA:93926
HP:0000745	Diminished motivation	5727	PTCH1	ORPHA:93924
HP:0000745	Diminished motivation	5727	PTCH1	ORPHA:93925
HP:0000745	Diminished motivation	50937	CDON	ORPHA:220386
HP:0000745	Diminished motivation	50937	CDON	ORPHA:93926
HP:0000745	Diminished motivation	50937	CDON	ORPHA:93924
HP:0000745	Diminished motivation	50937	CDON	ORPHA:93925
HP:0000745	Diminished motivation	654	BMP6	ORPHA:465508
HP:0000745	Diminished motivation	3077	HFE	ORPHA:465508
HP:0000745	Diminished motivation	54834	GDAP2	OMIM:618369
HP:0000745	Diminished motivation	23317	DNAJC13	ORPHA:411602
HP:0000745	Diminished motivation	1981	EIF4G1	ORPHA:411602
HP:0000745	Diminished motivation	55737	VPS35	ORPHA:411602
HP:0000745	Diminished motivation	120892	LRRK2	ORPHA:411602
HP:0000745	Diminished motivation	120892	LRRK2	ORPHA:2828
HP:0000745	Diminished motivation	26058	GIGYF2	ORPHA:411602
HP:0000745	Diminished motivation	6622	SNCA	ORPHA:411602
HP:0000745	Diminished motivation	6622	SNCA	ORPHA:2828
HP:0000745	Diminished motivation	6683	SPAST	OMIM:182601
HP:0000745	Diminished motivation	3119	HLA-DQB1	OMIM:123400
HP:0000745	Diminished motivation	11277	TREX1	ORPHA:247691
HP:0000745	Diminished motivation	23400	ATP13A2	ORPHA:306674
HP:0000745	Diminished motivation	773	CACNA1A	ORPHA:71518
HP:0000745	Diminished motivation	23230	VPS13A	ORPHA:2388
HP:0000745	Diminished motivation	23007	PLCH1	ORPHA:93925
HP:0000745	Diminished motivation	54832	VPS13C	ORPHA:2828
HP:0000745	Diminished motivation	11315	PARK7	ORPHA:2828
HP:0000745	Diminished motivation	7345	UCHL1	ORPHA:2828
HP:0000745	Diminished motivation	27429	HTRA2	ORPHA:2828
HP:0000745	Diminished motivation	9829	DNAJC6	ORPHA:2828
HP:0000745	Diminished motivation	5420	PODXL	ORPHA:2828
HP:0000745	Diminished motivation	65018	PINK1	ORPHA:2828
HP:0000745	Diminished motivation	8867	SYNJ1	ORPHA:2828
HP:0000745	Diminished motivation	5071	PRKN	ORPHA:2828
HP:0000745	Diminished motivation	339453	TMEM240	OMIM:607454
HP:0000745	Diminished motivation	2760	GM2A	OMIM:272750
HP:0000745	Diminished motivation	54902	TTC19	OMIM:615157
HP:0000745	Diminished motivation	25978	CHMP2B	ORPHA:100069
HP:0000745	Diminished motivation	25978	CHMP2B	ORPHA:275864
HP:0000745	Diminished motivation	5663	PSEN1	ORPHA:100069
HP:0000745	Diminished motivation	5663	PSEN1	ORPHA:275864
HP:0000745	Diminished motivation	2896	GRN	ORPHA:100069
HP:0000745	Diminished motivation	2896	GRN	ORPHA:275864
HP:0000745	Diminished motivation	54664	TMEM106B	ORPHA:100069
HP:0000745	Diminished motivation	54664	TMEM106B	ORPHA:275864
HP:0000745	Diminished motivation	4137	MAPT	ORPHA:100069
HP:0000745	Diminished motivation	4137	MAPT	ORPHA:275864
HP:0000745	Diminished motivation	54209	TREM2	ORPHA:100069
HP:0000745	Diminished motivation	54209	TREM2	ORPHA:275864
HP:0000745	Diminished motivation	5654	HTRA1	ORPHA:199354
HP:0000745	Diminished motivation	8878	SQSTM1	ORPHA:275864
HP:0000745	Diminished motivation	7415	VCP	ORPHA:275864
HP:0000745	Diminished motivation	4854	NOTCH3	OMIM:125310
HP:0000745	Diminished motivation	1641	DCX	ORPHA:2148
HP:0000745	Diminished motivation	51324	SPG21	OMIM:248900
HP:0000745	Diminished motivation	5621	PRNP	ORPHA:282166
HP:0000745	Diminished motivation	57338	JPH3	OMIM:606438
HP:0000745	Diminished motivation	80025	PANK2	ORPHA:216873
HP:0000745	Diminished motivation	2332	FMR1	ORPHA:93256
HP:0000745	Diminished motivation	6310	ATXN1	ORPHA:98755
HP:0000745	Diminished motivation	5575	PRKAR1B	ORPHA:412066
HP:0000746	Delusions	57338	JPH3	OMIM:606438
HP:0000746	Delusions	410	ARSA	ORPHA:309271
HP:0000746	Delusions	410	ARSA	ORPHA:309256
HP:0000746	Delusions	410	ARSA	ORPHA:309263
HP:0000746	Delusions	410	ARSA	OMIM:250100
HP:0000746	Delusions	5660	PSAP	ORPHA:309271
HP:0000746	Delusions	5660	PSAP	ORPHA:309256
HP:0000746	Delusions	5660	PSAP	ORPHA:309263
HP:0000746	Delusions	5621	PRNP	ORPHA:282166
HP:0000746	Delusions	5621	PRNP	OMIM:123400
HP:0000746	Delusions	5621	PRNP	OMIM:603218
HP:0000746	Delusions	5621	PRNP	ORPHA:157941
HP:0000746	Delusions	3064	HTT	ORPHA:399
HP:0000746	Delusions	6515	SLC2A3	ORPHA:399
HP:0000746	Delusions	1436	CSF1R	OMIM:221820
HP:0000746	Delusions	1593	CYP27A1	OMIM:213700
HP:0000746	Delusions	10165	SLC25A13	ORPHA:247585
HP:0000746	Delusions	203228	C9orf72	OMIM:105550
HP:0000746	Delusions	3119	HLA-DQB1	OMIM:123400
HP:0000746	Delusions	5521	PPP2R2B	OMIM:604326
HP:0000746	Delusions	1967	EIF2B1	OMIM:603896
HP:0000746	Delusions	5654	HTRA1	OMIM:600142
HP:0000746	Delusions	4125	MAN2B1	ORPHA:309282
HP:0000746	Delusions	4125	MAN2B1	ORPHA:309288
HP:0000746	Delusions	1312	COMT	OMIM:181500
HP:0000746	Delusions	23780	APOL2	OMIM:181500
HP:0000746	Delusions	267012	DAOA	OMIM:181500
HP:0000746	Delusions	3356	HTR2A	OMIM:181500
HP:0000746	Delusions	6854	SYN2	OMIM:181500
HP:0000746	Delusions	1814	DRD3	OMIM:181500
HP:0000746	Delusions	4524	MTHFR	OMIM:181500
HP:0000746	Delusions	27184	DISC2	OMIM:181500
HP:0000746	Delusions	65078	RTN4R	OMIM:181500
HP:0000746	Delusions	80832	APOL4	OMIM:181500
HP:0000746	Delusions	1116	CHI3L1	OMIM:181500
HP:0000746	Delusions	2629	GBA1	OMIM:127750
HP:0000746	Delusions	6620	SNCB	OMIM:127750
HP:0000746	Delusions	1678	TIMM8A	ORPHA:52368
HP:0000746	Delusions	6622	SNCA	OMIM:605543
HP:0000746	Delusions	84196	USP48	ORPHA:96253
HP:0000746	Delusions	7157	TP53	ORPHA:96253
HP:0000746	Delusions	9101	USP8	ORPHA:96253
HP:0000746	Delusions	64072	CDH23	ORPHA:96253
HP:0000746	Delusions	2908	NR3C1	ORPHA:96253
HP:0000746	Delusions	673	BRAF	ORPHA:96253
HP:0000746	Delusions	546	ATRX	ORPHA:96253
HP:0000746	Delusions	8398	PLA2G6	ORPHA:199351
HP:0000746	Delusions	1893	ECM1	OMIM:247100
HP:0000746	Delusions	3612	IMPA1	OMIM:617323
HP:0000746	Delusions	56978	PRDM8	OMIM:616640
HP:0000746	Delusions	56978	PRDM8	ORPHA:324290
HP:0000746	Delusions	2328	FMO3	ORPHA:468726
HP:0000746	Delusions	23230	VPS13A	ORPHA:2388
HP:0000746	Delusions	9993	DGCR2	OMIM:192430
HP:0000746	Delusions	8220	ESS2	OMIM:192430
HP:0000746	Delusions	8214	DGCR6	OMIM:192430
HP:0000746	Delusions	54487	DGCR8	OMIM:192430
HP:0000746	Delusions	6899	TBX1	OMIM:192430
HP:0000746	Delusions	5498	PPOX	ORPHA:79473
HP:0000746	Delusions	3145	HMBS	ORPHA:79276
HP:0000746	Delusions	6908	TBP	OMIM:607136
HP:0000746	Delusions	1371	CPOX	OMIM:121300
HP:0000748	Inappropriate laughter	5138	PDE2A	OMIM:619150
HP:0000748	Inappropriate laughter	4137	MAPT	OMIM:600274
HP:0000748	Inappropriate laughter	4137	MAPT	OMIM:172700
HP:0000748	Inappropriate laughter	5663	PSEN1	OMIM:600274
HP:0000748	Inappropriate laughter	5663	PSEN1	OMIM:172700
HP:0000748	Inappropriate laughter	4948	OCA2	ORPHA:98794
HP:0000748	Inappropriate laughter	158	ADSL	OMIM:103050
HP:0000748	Inappropriate laughter	57459	GATAD2B	OMIM:615074
HP:0000748	Inappropriate laughter	57459	GATAD2B	ORPHA:363686
HP:0000748	Inappropriate laughter	284058	KANSL1	ORPHA:363958
HP:0000748	Inappropriate laughter	284058	KANSL1	ORPHA:363965
HP:0000748	Inappropriate laughter	388662	SLC6A17	ORPHA:457212
HP:0000748	Inappropriate laughter	388662	SLC6A17	OMIM:616269
HP:0000748	Inappropriate laughter	10479	SLC9A6	ORPHA:85278
HP:0000748	Inappropriate laughter	94005	PIGS	OMIM:618143
HP:0000748	Inappropriate laughter	1859	DYRK1A	OMIM:614104
HP:0000748	Inappropriate laughter	6792	CDKL5	ORPHA:3095
HP:0000748	Inappropriate laughter	6792	CDKL5	ORPHA:505652
HP:0000748	Inappropriate laughter	22854	NTNG1	ORPHA:3095
HP:0000748	Inappropriate laughter	9568	GABBR2	ORPHA:3095
HP:0000748	Inappropriate laughter	4204	MECP2	ORPHA:3095
HP:0000748	Inappropriate laughter	8243	SMC1A	ORPHA:3095
HP:0000748	Inappropriate laughter	23102	TBC1D2B	OMIM:619323
HP:0000748	Inappropriate laughter	1436	CSF1R	OMIM:618476
HP:0000748	Inappropriate laughter	2902	GRIN1	OMIM:614254
HP:0000748	Inappropriate laughter	4858	NOVA2	OMIM:618859
HP:0000748	Inappropriate laughter	80055	PGAP1	OMIM:615802
HP:0000748	Inappropriate laughter	57194	ATP10A	ORPHA:411515
HP:0000748	Inappropriate laughter	546	ATRX	OMIM:309580
HP:0000748	Inappropriate laughter	2737	GLI3	ORPHA:672
HP:0000748	Inappropriate laughter	2898	GRIK2	OMIM:619580
HP:0000748	Inappropriate laughter	10785	WDR4	OMIM:618347
HP:0000748	Inappropriate laughter	9894	TELO2	OMIM:616954
HP:0000748	Inappropriate laughter	55777	MBD5	ORPHA:228402
HP:0000748	Inappropriate laughter	6638	SNRPN	OMIM:105830
HP:0000748	Inappropriate laughter	7337	UBE3A	OMIM:105830
HP:0000748	Inappropriate laughter	84628	NTNG2	OMIM:618718
HP:0000748	Inappropriate laughter	3028	HSD17B10	ORPHA:391428
HP:0000749	Paroxysmal bursts of laughter	546	ATRX	OMIM:309580
HP:0000749	Paroxysmal bursts of laughter	2737	GLI3	ORPHA:672
HP:0000749	Paroxysmal bursts of laughter	2898	GRIK2	OMIM:619580
HP:0000749	Paroxysmal bursts of laughter	10785	WDR4	OMIM:618347
HP:0000749	Paroxysmal bursts of laughter	9894	TELO2	OMIM:616954
HP:0000749	Paroxysmal bursts of laughter	55777	MBD5	ORPHA:228402
HP:0000749	Paroxysmal bursts of laughter	6638	SNRPN	OMIM:105830
HP:0000749	Paroxysmal bursts of laughter	7337	UBE3A	OMIM:105830
HP:0000749	Paroxysmal bursts of laughter	84628	NTNG2	OMIM:618718
HP:0000749	Paroxysmal bursts of laughter	3028	HSD17B10	ORPHA:391428
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5830	PEX5	OMIM:202370
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5830	PEX5	OMIM:214110
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	1376	CPT2	OMIM:608836
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	1376	CPT2	ORPHA:228302
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	215	ABCD1	OMIM:300100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5824	PEX19	OMIM:614886
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5189	PEX1	OMIM:214100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	55670	PEX26	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	OMIM:614866
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	OMIM:614867
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	8504	PEX3	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	9409	PEX16	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	9409	PEX16	OMIM:614877
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5190	PEX6	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	8799	PEX11B	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5193	PEX12	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5193	PEX12	OMIM:266510
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5194	PEX13	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5195	PEX14	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:614879
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:266500
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:215100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5264	PHYH	OMIM:266500
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5192	PEX10	ORPHA:247815
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	23600	AMACR	OMIM:614307
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	6342	SCP2	OMIM:613724
HP:0010965	Abnormal circulating phytanic acid concentration	55670	PEX26	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5824	PEX19	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	OMIM:614866
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	OMIM:614867
HP:0010965	Abnormal circulating phytanic acid concentration	8504	PEX3	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	9409	PEX16	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	9409	PEX16	OMIM:614877
HP:0010965	Abnormal circulating phytanic acid concentration	5190	PEX6	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	8799	PEX11B	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5830	PEX5	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5189	PEX1	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5193	PEX12	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5193	PEX12	OMIM:266510
HP:0010965	Abnormal circulating phytanic acid concentration	5194	PEX13	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5195	PEX14	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5192	PEX10	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5192	PEX10	OMIM:614871
HP:0010965	Abnormal circulating phytanic acid concentration	23600	AMACR	OMIM:614307
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:614879
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:266500
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:215100
HP:0010965	Abnormal circulating phytanic acid concentration	5264	PHYH	OMIM:266500
HP:0010966	Abnormal circulating fatty-acid anion concentration	1497	CTNS	OMIM:219800
HP:0010966	Abnormal circulating fatty-acid anion concentration	1738	DLD	ORPHA:2394
HP:0010966	Abnormal circulating fatty-acid anion concentration	3155	HMGCL	OMIM:246450
HP:0010966	Abnormal circulating fatty-acid anion concentration	4556	MT-TE	ORPHA:254864
HP:0010966	Abnormal circulating fatty-acid anion concentration	55687	TRMU	ORPHA:254864
HP:0010966	Abnormal circulating fatty-acid anion concentration	37	ACADVL	OMIM:201475
HP:0010966	Abnormal circulating fatty-acid anion concentration	4695	NDUFA2	OMIM:618235
HP:0010966	Abnormal circulating fatty-acid anion concentration	34	ACADM	OMIM:201450
HP:0010966	Abnormal circulating fatty-acid anion concentration	1294	COL7A1	ORPHA:89842
HP:0010966	Abnormal circulating fatty-acid anion concentration	27034	ACAD8	OMIM:611283
HP:0010966	Abnormal circulating fatty-acid anion concentration	27034	ACAD8	ORPHA:79159
HP:0010966	Abnormal circulating fatty-acid anion concentration	3033	HADH	ORPHA:71212
HP:0010966	Abnormal circulating fatty-acid anion concentration	28976	ACAD9	ORPHA:99901
HP:0010966	Abnormal circulating fatty-acid anion concentration	64087	MCCC2	OMIM:210210
HP:0010966	Abnormal circulating fatty-acid anion concentration	788	SLC25A20	ORPHA:159
HP:0010966	Abnormal circulating fatty-acid anion concentration	1962	EHHADH	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	2628	GATM	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	137682	NDUFAF6	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	6569	SLC34A1	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	6584	SLC22A5	OMIM:212140
HP:0010966	Abnormal circulating fatty-acid anion concentration	6341	SCO1	OMIM:619048
HP:0010966	Abnormal circulating fatty-acid anion concentration	133686	NADK2	ORPHA:431361
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	OMIM:608836
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	ORPHA:228305
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	ORPHA:228308
HP:0010966	Abnormal circulating fatty-acid anion concentration	4312	MMP1	ORPHA:79408
HP:0010966	Abnormal circulating fatty-acid anion concentration	283209	PGM2L1	OMIM:620191
HP:0010966	Abnormal circulating fatty-acid anion concentration	25974	MMACHC	ORPHA:79282
HP:0010966	Abnormal circulating fatty-acid anion concentration	84693	MCEE	OMIM:251120
HP:0010966	Abnormal circulating fatty-acid anion concentration	55788	LMBRD1	OMIM:277380
HP:0010966	Abnormal circulating fatty-acid anion concentration	5826	ABCD4	OMIM:614857
HP:0010966	Abnormal circulating fatty-acid anion concentration	51241	COX16	OMIM:619355
HP:0010966	Abnormal circulating fatty-acid anion concentration	23474	ETHE1	OMIM:602473
HP:0010966	Abnormal circulating fatty-acid anion concentration	10059	DNM1L	OMIM:614388
HP:0010966	Abnormal circulating fatty-acid anion concentration	55670	PEX26	OMIM:614872
HP:0010966	Abnormal circulating fatty-acid anion concentration	35	ACADS	ORPHA:26792
HP:0010966	Abnormal circulating fatty-acid anion concentration	55065	SLC52A1	OMIM:615026
HP:0010966	Abnormal circulating fatty-acid anion concentration	128989	TANGO2	OMIM:616878
HP:0010966	Abnormal circulating fatty-acid anion concentration	128989	TANGO2	ORPHA:480864
HP:0010966	Abnormal circulating fatty-acid anion concentration	90624	LYRM7	OMIM:615838
HP:0010966	Abnormal circulating fatty-acid anion concentration	3030	HADHA	OMIM:609015
HP:0010967	Abnormal circulating carnitine concentration	1497	CTNS	OMIM:219800
HP:0010967	Abnormal circulating carnitine concentration	1738	DLD	ORPHA:2394
HP:0010967	Abnormal circulating carnitine concentration	3155	HMGCL	OMIM:246450
HP:0010967	Abnormal circulating carnitine concentration	4556	MT-TE	ORPHA:254864
HP:0010967	Abnormal circulating carnitine concentration	55687	TRMU	ORPHA:254864
HP:0010967	Abnormal circulating carnitine concentration	37	ACADVL	OMIM:201475
HP:0010967	Abnormal circulating carnitine concentration	4695	NDUFA2	OMIM:618235
HP:0010967	Abnormal circulating carnitine concentration	34	ACADM	OMIM:201450
HP:0010967	Abnormal circulating carnitine concentration	1294	COL7A1	ORPHA:89842
HP:0010967	Abnormal circulating carnitine concentration	27034	ACAD8	OMIM:611283
HP:0010967	Abnormal circulating carnitine concentration	27034	ACAD8	ORPHA:79159
HP:0010967	Abnormal circulating carnitine concentration	3033	HADH	ORPHA:71212
HP:0010967	Abnormal circulating carnitine concentration	28976	ACAD9	ORPHA:99901
HP:0010967	Abnormal circulating carnitine concentration	64087	MCCC2	OMIM:210210
HP:0010967	Abnormal circulating carnitine concentration	788	SLC25A20	ORPHA:159
HP:0010967	Abnormal circulating carnitine concentration	1962	EHHADH	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	2628	GATM	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	137682	NDUFAF6	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	6569	SLC34A1	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	6584	SLC22A5	OMIM:212140
HP:0010967	Abnormal circulating carnitine concentration	6341	SCO1	OMIM:619048
HP:0010967	Abnormal circulating carnitine concentration	133686	NADK2	ORPHA:431361
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	OMIM:608836
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	ORPHA:228305
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	ORPHA:228308
HP:0010967	Abnormal circulating carnitine concentration	4312	MMP1	ORPHA:79408
HP:0010967	Abnormal circulating carnitine concentration	283209	PGM2L1	OMIM:620191
HP:0010967	Abnormal circulating carnitine concentration	25974	MMACHC	ORPHA:79282
HP:0010967	Abnormal circulating carnitine concentration	84693	MCEE	OMIM:251120
HP:0010967	Abnormal circulating carnitine concentration	55788	LMBRD1	OMIM:277380
HP:0010967	Abnormal circulating carnitine concentration	5826	ABCD4	OMIM:614857
HP:0010967	Abnormal circulating carnitine concentration	51241	COX16	OMIM:619355
HP:0010967	Abnormal circulating carnitine concentration	23474	ETHE1	OMIM:602473
HP:0010967	Abnormal circulating carnitine concentration	35	ACADS	ORPHA:26792
HP:0010967	Abnormal circulating carnitine concentration	55065	SLC52A1	OMIM:615026
HP:0010967	Abnormal circulating carnitine concentration	128989	TANGO2	OMIM:616878
HP:0010967	Abnormal circulating carnitine concentration	128989	TANGO2	ORPHA:480864
HP:0010967	Abnormal circulating carnitine concentration	90624	LYRM7	OMIM:615838
HP:0010967	Abnormal circulating carnitine concentration	3030	HADHA	OMIM:609015
HP:0010969	Abnormality of glycolipid metabolism	3073	HEXA	OMIM:272800
HP:0010969	Abnormality of glycolipid metabolism	2760	GM2A	OMIM:272750
HP:0010969	Abnormality of glycolipid metabolism	410	ARSA	ORPHA:309271
HP:0010969	Abnormality of glycolipid metabolism	410	ARSA	ORPHA:309263
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	ORPHA:309271
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	OMIM:611721
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	ORPHA:309263
HP:0010969	Abnormality of glycolipid metabolism	3074	HEXB	OMIM:268800
HP:0010969	Abnormality of glycolipid metabolism	57192	MCOLN1	ORPHA:578
HP:0010969	Abnormality of glycolipid metabolism	57192	MCOLN1	OMIM:252650
HP:0010969	Abnormality of glycolipid metabolism	3795	KHK	ORPHA:2056
HP:0010969	Abnormality of glycolipid metabolism	23175	LPIN1	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	4512	MT-CO1	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	4514	MT-CO3	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	2717	GLA	OMIM:301500
HP:0010963	Absence of stomach bubble on fetal sonography	100128927	ZBTB42	OMIM:616248
HP:0010963	Absence of stomach bubble on fetal sonography	4927	NUP88	OMIM:618393
HP:0010963	Absence of stomach bubble on fetal sonography	9321	TRIP11	OMIM:200600
HP:0010963	Absence of stomach bubble on fetal sonography	57211	ADGRG6	OMIM:616503
HP:0010963	Absence of stomach bubble on fetal sonography	2187	FANCB	OMIM:314390
HP:0010963	Absence of stomach bubble on fetal sonography	7547	ZIC3	OMIM:314390
HP:0010963	Absence of stomach bubble on fetal sonography	26153	KIF26A	OMIM:620156
HP:0007905	Abnormal iris vasculature	4653	MYOC	OMIM:137750
HP:0007905	Abnormal iris vasculature	2296	FOXC1	OMIM:601631
HP:0007905	Abnormal iris vasculature	4016	LOXL1	OMIM:177650
HP:0007906	Ocular hypertension	5309	PITX3	OMIM:107250
HP:0007906	Ocular hypertension	7837	PXDN	OMIM:269400
HP:0007906	Ocular hypertension	3105	HLA-A	ORPHA:179
HP:0007906	Ocular hypertension	7010	TEK	OMIM:617272
HP:0007906	Ocular hypertension	170691	ADAMTS17	OMIM:613195
HP:0007906	Ocular hypertension	80781	COL18A1	OMIM:618880
HP:0007906	Ocular hypertension	113189	CHST14	ORPHA:2953
HP:0007906	Ocular hypertension	29940	DSE	ORPHA:2953
HP:0007906	Ocular hypertension	2335	FN1	ORPHA:93315
HP:0007906	Ocular hypertension	1280	COL2A1	ORPHA:93315
HP:0007906	Ocular hypertension	4010	LMX1B	ORPHA:2614
HP:0007906	Ocular hypertension	3166	HMX1	OMIM:612109
HP:0007906	Ocular hypertension	646960	PRSS56	OMIM:613517
HP:0007906	Ocular hypertension	8314	BAP1	ORPHA:39044
HP:0007906	Ocular hypertension	57105	CYSLTR2	ORPHA:39044
HP:0007906	Ocular hypertension	2776	GNAQ	ORPHA:39044
HP:0007906	Ocular hypertension	2767	GNA11	ORPHA:39044
HP:0007906	Ocular hypertension	23451	SF3B1	ORPHA:39044
HP:0007906	Ocular hypertension	136371	ASB10	OMIM:603383
HP:0007906	Ocular hypertension	444	ASPH	OMIM:601552
HP:0007906	Ocular hypertension	4774	NFIA	ORPHA:401986
HP:0007906	Ocular hypertension	114902	C1QTNF5	ORPHA:67042
HP:0007906	Ocular hypertension	30813	VSX1	OMIM:614195
HP:0007906	Ocular hypertension	30813	VSX1	ORPHA:98973
HP:0007906	Ocular hypertension	1545	CYP1B1	OMIM:231300
HP:0007906	Ocular hypertension	1545	CYP1B1	ORPHA:98977
HP:0007906	Ocular hypertension	169792	GLIS3	OMIM:610199
HP:0007906	Ocular hypertension	2301	FOXE3	OMIM:610256
HP:0007906	Ocular hypertension	23516	SLC39A14	OMIM:144755
HP:0007906	Ocular hypertension	2202	EFEMP1	ORPHA:98977
HP:0007906	Ocular hypertension	4653	MYOC	ORPHA:98977
HP:0007906	Ocular hypertension	4053	LTBP2	OMIM:614819
HP:0007906	Ocular hypertension	6935	ZEB1	ORPHA:98973
HP:0007906	Ocular hypertension	58495	OVOL2	ORPHA:98973
HP:0007906	Ocular hypertension	79977	GRHL2	ORPHA:98973
HP:0007906	Ocular hypertension	1296	COL8A2	ORPHA:98973
HP:0007913	Reticular retinal dystrophy	5961	PRPH2	OMIM:169150
HP:0000751	Personality changes	4137	MAPT	OMIM:600274
HP:0000751	Personality changes	4137	MAPT	OMIM:172700
HP:0000751	Personality changes	4137	MAPT	ORPHA:275864
HP:0000751	Personality changes	4137	MAPT	ORPHA:240103
HP:0000751	Personality changes	4137	MAPT	OMIM:168600
HP:0000751	Personality changes	4137	MAPT	ORPHA:100070
HP:0000751	Personality changes	5663	PSEN1	OMIM:600274
HP:0000751	Personality changes	5663	PSEN1	OMIM:607822
HP:0000751	Personality changes	5663	PSEN1	OMIM:172700
HP:0000751	Personality changes	5663	PSEN1	ORPHA:275864
HP:0000751	Personality changes	5663	PSEN1	ORPHA:100070
HP:0000751	Personality changes	5621	PRNP	ORPHA:282166
HP:0000751	Personality changes	5621	PRNP	OMIM:137440
HP:0000751	Personality changes	5621	PRNP	OMIM:123400
HP:0000751	Personality changes	5621	PRNP	OMIM:603218
HP:0000751	Personality changes	5621	PRNP	OMIM:606688
HP:0000751	Personality changes	4558	MT-TF	ORPHA:550
HP:0000751	Personality changes	4572	MT-TQ	ORPHA:550
HP:0000751	Personality changes	4512	MT-CO1	ORPHA:550
HP:0000751	Personality changes	4513	MT-CO2	ORPHA:550
HP:0000751	Personality changes	4514	MT-CO3	ORPHA:550
HP:0000751	Personality changes	4578	MT-TW	ORPHA:550
HP:0000751	Personality changes	4540	MT-ND5	ORPHA:550
HP:0000751	Personality changes	4541	MT-ND6	ORPHA:550
HP:0000751	Personality changes	4535	MT-ND1	ORPHA:550
HP:0000751	Personality changes	4538	MT-ND4	ORPHA:550
HP:0000751	Personality changes	4567	MT-TL1	ORPHA:550
HP:0000751	Personality changes	4574	MT-TS1	ORPHA:550
HP:0000751	Personality changes	4575	MT-TS2	ORPHA:550
HP:0000751	Personality changes	4564	MT-TH	ORPHA:550
HP:0000751	Personality changes	8398	PLA2G6	ORPHA:199351
HP:0000751	Personality changes	8398	PLA2G6	OMIM:612953
HP:0000751	Personality changes	25978	CHMP2B	OMIM:600795
HP:0000751	Personality changes	25978	CHMP2B	ORPHA:275864
HP:0000751	Personality changes	25978	CHMP2B	ORPHA:100070
HP:0000751	Personality changes	348	APOE	OMIM:607822
HP:0000751	Personality changes	7072	TIA1	OMIM:619133
HP:0000751	Personality changes	25974	MMACHC	ORPHA:79282
HP:0000751	Personality changes	7415	VCP	OMIM:613954
HP:0000751	Personality changes	7415	VCP	ORPHA:275864
HP:0000751	Personality changes	7415	VCP	ORPHA:100070
HP:0000751	Personality changes	7305	TYROBP	ORPHA:2770
HP:0000751	Personality changes	7305	TYROBP	OMIM:221770
HP:0000751	Personality changes	54209	TREM2	ORPHA:2770
HP:0000751	Personality changes	54209	TREM2	ORPHA:275864
HP:0000751	Personality changes	54209	TREM2	ORPHA:100070
HP:0000751	Personality changes	4001	LMNB1	OMIM:169500
HP:0000751	Personality changes	3119	HLA-DQB1	OMIM:123400
HP:0000751	Personality changes	2896	GRN	OMIM:607485
HP:0000751	Personality changes	2896	GRN	ORPHA:275864
HP:0000751	Personality changes	2896	GRN	ORPHA:100070
HP:0000751	Personality changes	1967	EIF2B1	OMIM:603896
HP:0000751	Personality changes	1678	TIMM8A	ORPHA:52368
HP:0000751	Personality changes	1639	DCTN1	ORPHA:178509
HP:0000751	Personality changes	54476	RNF216	ORPHA:1173
HP:0000751	Personality changes	10908	PNPLA6	ORPHA:1173
HP:0000751	Personality changes	23230	VPS13A	OMIM:200150
HP:0000751	Personality changes	16	AARS1	OMIM:619661
HP:0000751	Personality changes	54664	TMEM106B	ORPHA:275864
HP:0000751	Personality changes	54664	TMEM106B	ORPHA:100070
HP:0000751	Personality changes	8878	SQSTM1	ORPHA:275864
HP:0000751	Personality changes	8878	SQSTM1	OMIM:616437
HP:0000751	Personality changes	29110	TBK1	OMIM:616439
HP:0000751	Personality changes	2747	GLUD2	OMIM:168600
HP:0000751	Personality changes	126	ADH1C	OMIM:168600
HP:0000751	Personality changes	2629	GBA1	OMIM:168600
HP:0000751	Personality changes	4929	NR4A2	OMIM:168600
HP:0000751	Personality changes	6908	TBP	OMIM:168600
HP:0000751	Personality changes	4576	MT-TT	OMIM:168600
HP:0000751	Personality changes	9627	SNCAIP	OMIM:168600
HP:0000751	Personality changes	6311	ATXN2	OMIM:168600
HP:0000751	Personality changes	6315	ATXN8OS	OMIM:168600
HP:0000751	Personality changes	540	ATP7B	OMIM:277900
HP:0000751	Personality changes	57338	JPH3	ORPHA:98934
HP:0000751	Personality changes	3064	HTT	OMIM:143100
HP:0000751	Personality changes	4854	NOTCH3	OMIM:125310
HP:0000756	Agoraphobia	1387	CREBBP	ORPHA:353277
HP:0000756	Agoraphobia	1387	CREBBP	ORPHA:353281
HP:0000756	Agoraphobia	2033	EP300	ORPHA:353284
HP:0000756	Agoraphobia	8910	SGCE	OMIM:159900
HP:0000757	Lack of insight	25978	CHMP2B	ORPHA:275864
HP:0000757	Lack of insight	25978	CHMP2B	OMIM:600795
HP:0000757	Lack of insight	5663	PSEN1	ORPHA:275864
HP:0000757	Lack of insight	2896	GRN	ORPHA:275864
HP:0000757	Lack of insight	54664	TMEM106B	ORPHA:275864
HP:0000757	Lack of insight	8878	SQSTM1	ORPHA:275864
HP:0000757	Lack of insight	4137	MAPT	ORPHA:275864
HP:0000757	Lack of insight	54209	TREM2	ORPHA:275864
HP:0000757	Lack of insight	7415	VCP	ORPHA:275864
HP:0000757	Lack of insight	6908	TBP	OMIM:607136
HP:0000757	Lack of insight	7305	TYROBP	OMIM:221770
HP:0000758	Abnormal nonverbal communicative behavior	57502	NLGN4X	OMIM:300495
HP:0000758	Abnormal nonverbal communicative behavior	54413	NLGN3	OMIM:300425
HP:0000758	Abnormal nonverbal communicative behavior	6638	SNRPN	OMIM:209850
HP:0000758	Abnormal nonverbal communicative behavior	56947	MFF	ORPHA:485421
HP:0000758	Abnormal nonverbal communicative behavior	388015	RTL1	ORPHA:254531
HP:0000758	Abnormal nonverbal communicative behavior	8788	DLK1	ORPHA:254531
HP:0000758	Abnormal nonverbal communicative behavior	55384	MEG3	ORPHA:254531
HP:0000758	Abnormal nonverbal communicative behavior	158	ADSL	OMIM:103050
HP:0000758	Abnormal nonverbal communicative behavior	6792	CDKL5	OMIM:300672
HP:0000758	Abnormal nonverbal communicative behavior	6792	CDKL5	ORPHA:3095
HP:0000758	Abnormal nonverbal communicative behavior	6792	CDKL5	ORPHA:505652
HP:0000758	Abnormal nonverbal communicative behavior	8243	SMC1A	OMIM:301044
HP:0000758	Abnormal nonverbal communicative behavior	8243	SMC1A	ORPHA:3095
HP:0000758	Abnormal nonverbal communicative behavior	54539	NDUFB11	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	25915	NDUFAF3	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	25915	NDUFAF3	OMIM:618240
HP:0000758	Abnormal nonverbal communicative behavior	51103	NDUFAF1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	91942	NDUFAF2	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	51300	TIMMDC1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4716	NDUFB10	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4723	NDUFV1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	55572	FOXRED1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	284184	NDUFAF8	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	55863	TMEM126B	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4535	MT-ND1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4537	MT-ND3	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4729	NDUFV2	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4694	NDUFA1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4720	NDUFS2	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4724	NDUFS4	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4724	NDUFS4	OMIM:252010
HP:0000758	Abnormal nonverbal communicative behavior	4726	NDUFS6	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4728	NDUFS8	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4722	NDUFS3	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	79133	NDUFAF5	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	126328	NDUFA11	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4709	NDUFB3	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	80224	NUBPL	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	29078	NDUFAF4	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	29078	NDUFAF4	OMIM:618237
HP:0000758	Abnormal nonverbal communicative behavior	374291	NDUFS7	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4700	NDUFA6	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4536	MT-ND2	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4719	NDUFS1	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	4715	NDUFB9	ORPHA:2609
HP:0000758	Abnormal nonverbal communicative behavior	79876	UBA5	OMIM:617132
HP:0000758	Abnormal nonverbal communicative behavior	23013	SPEN	OMIM:619312
HP:0000758	Abnormal nonverbal communicative behavior	340533	NEXMIF	OMIM:300912
HP:0000758	Abnormal nonverbal communicative behavior	23316	CUX2	OMIM:618141
HP:0000758	Abnormal nonverbal communicative behavior	2892	GRIA3	ORPHA:364028
HP:0000758	Abnormal nonverbal communicative behavior	8506	CNTNAP1	OMIM:618186
HP:0000758	Abnormal nonverbal communicative behavior	55773	TBC1D23	OMIM:617695
HP:0000758	Abnormal nonverbal communicative behavior	6711	SPTBN1	OMIM:619475
HP:0000758	Abnormal nonverbal communicative behavior	10564	ARFGEF2	OMIM:608097
HP:0000758	Abnormal nonverbal communicative behavior	2290	FOXG1	OMIM:613454
HP:0000758	Abnormal nonverbal communicative behavior	23394	ADNP	OMIM:615873
HP:0000758	Abnormal nonverbal communicative behavior	85476	GFM1	OMIM:609060
HP:0000758	Abnormal nonverbal communicative behavior	9254	CACNA2D2	OMIM:618501
HP:0000758	Abnormal nonverbal communicative behavior	4983	OPHN1	ORPHA:137831
HP:0000758	Abnormal nonverbal communicative behavior	7360	UGP2	OMIM:618744
HP:0000758	Abnormal nonverbal communicative behavior	85440	DOCK7	ORPHA:411986
HP:0000758	Abnormal nonverbal communicative behavior	53616	ADAM22	OMIM:617933
HP:0000758	Abnormal nonverbal communicative behavior	4191	MDH2	OMIM:617339
HP:0000758	Abnormal nonverbal communicative behavior	85358	SHANK3	OMIM:606232
HP:0000758	Abnormal nonverbal communicative behavior	22845	DOLK	ORPHA:91131
HP:0000758	Abnormal nonverbal communicative behavior	170302	ARX	OMIM:308350
HP:0000758	Abnormal nonverbal communicative behavior	26047	CNTNAP2	ORPHA:163681
HP:0000758	Abnormal nonverbal communicative behavior	80222	TARS2	OMIM:615918
HP:0000758	Abnormal nonverbal communicative behavior	22854	NTNG1	ORPHA:3095
HP:0000758	Abnormal nonverbal communicative behavior	9568	GABBR2	ORPHA:3095
HP:0000758	Abnormal nonverbal communicative behavior	4204	MECP2	ORPHA:3095
HP:0000758	Abnormal nonverbal communicative behavior	4204	MECP2	OMIM:300260
HP:0000758	Abnormal nonverbal communicative behavior	60558	GUF1	OMIM:617065
HP:0000758	Abnormal nonverbal communicative behavior	374354	NHLRC2	OMIM:618278
HP:0000758	Abnormal nonverbal communicative behavior	6857	SYT1	ORPHA:522077
HP:0000758	Abnormal nonverbal communicative behavior	79868	ALG13	OMIM:300884
HP:0000758	Abnormal nonverbal communicative behavior	79868	ALG13	ORPHA:324422
HP:0000758	Abnormal nonverbal communicative behavior	5917	RARS1	ORPHA:438114
HP:0000758	Abnormal nonverbal communicative behavior	1352	COX10	OMIM:619046
HP:0000758	Abnormal nonverbal communicative behavior	84340	GFM2	OMIM:618397
HP:0000758	Abnormal nonverbal communicative behavior	84340	GFM2	ORPHA:565624
HP:0000758	Abnormal nonverbal communicative behavior	23287	AGTPBP1	OMIM:618276
HP:0000758	Abnormal nonverbal communicative behavior	477	ATP1A2	OMIM:619605
HP:0000758	Abnormal nonverbal communicative behavior	2904	GRIN2B	OMIM:616139
HP:0000758	Abnormal nonverbal communicative behavior	6487	ST3GAL3	OMIM:615006
HP:0000758	Abnormal nonverbal communicative behavior	2902	GRIN1	OMIM:617820
HP:0000758	Abnormal nonverbal communicative behavior	2555	GABRA2	OMIM:618557
HP:0000758	Abnormal nonverbal communicative behavior	10681	GNB5	ORPHA:542306
HP:0000758	Abnormal nonverbal communicative behavior	57582	KCNT1	OMIM:614959
HP:0000758	Abnormal nonverbal communicative behavior	10978	CLP1	OMIM:615803
HP:0000758	Abnormal nonverbal communicative behavior	54820	NDE1	OMIM:605013
HP:0000758	Abnormal nonverbal communicative behavior	10522	DEAF1	ORPHA:468620
HP:0000758	Abnormal nonverbal communicative behavior	10522	DEAF1	OMIM:615828
HP:0000758	Abnormal nonverbal communicative behavior	56652	TWNK	OMIM:271245
HP:0000758	Abnormal nonverbal communicative behavior	55777	MBD5	OMIM:156200
HP:0000758	Abnormal nonverbal communicative behavior	4718	NDUFC2	OMIM:619170
HP:0000758	Abnormal nonverbal communicative behavior	2590	GALNT2	OMIM:618885
HP:0000758	Abnormal nonverbal communicative behavior	2332	FMR1	ORPHA:449291
HP:0000758	Abnormal nonverbal communicative behavior	2332	FMR1	OMIM:300624
HP:0000758	Abnormal nonverbal communicative behavior	85365	ALG2	OMIM:607906
HP:0000758	Abnormal nonverbal communicative behavior	111	ADCY5	OMIM:619651
HP:0000758	Abnormal nonverbal communicative behavior	8120	AP3B2	OMIM:617276
HP:0000758	Abnormal nonverbal communicative behavior	125988	MICOS13	OMIM:618329
HP:0000758	Abnormal nonverbal communicative behavior	816	CAMK2B	OMIM:617799
HP:0000758	Abnormal nonverbal communicative behavior	51227	PIGP	OMIM:617599
HP:0000758	Abnormal nonverbal communicative behavior	201163	FLCN	OMIM:610883
HP:0000758	Abnormal nonverbal communicative behavior	51079	NDUFA13	OMIM:618249
HP:0000758	Abnormal nonverbal communicative behavior	81615	TMEM163	OMIM:620243
HP:0000758	Abnormal nonverbal communicative behavior	259232	NALCN	OMIM:615419
HP:0000758	Abnormal nonverbal communicative behavior	8604	SLC25A12	OMIM:612949
HP:0000758	Abnormal nonverbal communicative behavior	22827	PUF60	ORPHA:508488
HP:0000758	Abnormal nonverbal communicative behavior	5422	POLA1	OMIM:301030
HP:0000758	Abnormal nonverbal communicative behavior	6576	SLC25A1	OMIM:615182
HP:0000758	Abnormal nonverbal communicative behavior	9758	FRMPD4	OMIM:300983
HP:0000758	Abnormal nonverbal communicative behavior	4761	NEUROD2	OMIM:618374
HP:0000758	Abnormal nonverbal communicative behavior	3658	IREB2	OMIM:618451
HP:0000758	Abnormal nonverbal communicative behavior	10243	GPHN	OMIM:615501
HP:0000758	Abnormal nonverbal communicative behavior	4208	MEF2C	OMIM:613443
HP:0000758	Abnormal nonverbal communicative behavior	4915	NTRK2	OMIM:613886
HP:0000758	Abnormal nonverbal communicative behavior	2744	GLS	OMIM:618339
HP:0000758	Abnormal nonverbal communicative behavior	81603	TRIM8	OMIM:619428
HP:0000758	Abnormal nonverbal communicative behavior	9230	RAB11B	OMIM:617807
HP:0000758	Abnormal nonverbal communicative behavior	284111	SLC13A5	OMIM:615905
HP:0000758	Abnormal nonverbal communicative behavior	51111	KMT5B	OMIM:617788
HP:0000758	Abnormal nonverbal communicative behavior	57680	CHD8	OMIM:615032
HP:0010975	Abnormal B cell count	100	ADA	OMIM:102700
HP:0010975	Abnormal B cell count	64421	DCLRE1C	OMIM:603554
HP:0010975	Abnormal B cell count	5896	RAG1	OMIM:603554
HP:0010975	Abnormal B cell count	5897	RAG2	OMIM:603554
HP:0010975	Abnormal B cell count	5557	PRIM1	OMIM:620005
HP:0010975	Abnormal B cell count	4791	NFKB2	ORPHA:293978
HP:0010975	Abnormal B cell count	5788	PTPRC	OMIM:619924
HP:0010975	Abnormal B cell count	843	CASP10	OMIM:603909
HP:0010975	Abnormal B cell count	843	CASP10	ORPHA:3261
HP:0010975	Abnormal B cell count	355	FAS	ORPHA:3261
HP:0010975	Abnormal B cell count	356	FASLG	ORPHA:3261
HP:0010975	Abnormal B cell count	3071	NCKAP1L	OMIM:618982
HP:0010975	Abnormal B cell count	84433	CARD11	OMIM:616452
HP:0010975	Abnormal B cell count	7535	ZAP70	OMIM:269840
HP:0010975	Abnormal B cell count	975	CD81	OMIM:613496
HP:0010975	Abnormal B cell count	64170	CARD9	OMIM:212050
HP:0010975	Abnormal B cell count	472	ATM	OMIM:208900
HP:0010975	Abnormal B cell count	3561	IL2RG	OMIM:312863
HP:0010975	Abnormal B cell count	51135	IRAK4	OMIM:607676
HP:0010975	Abnormal B cell count	331	XIAP	OMIM:308240
HP:0010975	Abnormal B cell count	4068	SH2D1A	OMIM:308240
HP:0010975	Abnormal B cell count	931	MS4A1	OMIM:613495
HP:0010975	Abnormal B cell count	6772	STAT1	ORPHA:391487
HP:0010975	Abnormal B cell count	695	BTK	OMIM:300755
HP:0010975	Abnormal B cell count	55388	MCM10	OMIM:619313
HP:0010975	Abnormal B cell count	51095	TRNT1	OMIM:616084
HP:0010975	Abnormal B cell count	4683	NBN	OMIM:251260
HP:0010975	Abnormal B cell count	9841	ZBTB24	OMIM:614069
HP:0010975	Abnormal B cell count	5880	RAC2	OMIM:618986
HP:0010975	Abnormal B cell count	5880	RAC2	OMIM:618987
HP:0010975	Abnormal B cell count	22806	IKZF3	OMIM:619437
HP:0010975	Abnormal B cell count	8737	RIPK1	OMIM:618108
HP:0010975	Abnormal B cell count	8517	IKBKG	OMIM:301081
HP:0010975	Abnormal B cell count	54440	SASH3	OMIM:301082
HP:0010975	Abnormal B cell count	9094	UNC119	OMIM:615518
HP:0010975	Abnormal B cell count	90417	KNSTRN	ORPHA:221139
HP:0010975	Abnormal B cell count	3507	IGHM	OMIM:601495
HP:0010975	Abnormal B cell count	114803	MYSM1	ORPHA:508542
HP:0010975	Abnormal B cell count	9948	WDR1	OMIM:150550
HP:0010975	Abnormal B cell count	23149	FCHO1	OMIM:619164
HP:0010975	Abnormal B cell count	974	CD79B	OMIM:612692
HP:0010975	Abnormal B cell count	5591	PRKDC	OMIM:615966
HP:0010975	Abnormal B cell count	2672	GFI1	OMIM:613107
HP:0010975	Abnormal B cell count	3718	JAK3	ORPHA:35078
HP:0010975	Abnormal B cell count	79840	NHEJ1	ORPHA:169079
HP:0010975	Abnormal B cell count	23250	ATP11A	OMIM:619851
HP:0010975	Abnormal B cell count	4615	MYD88	OMIM:612260
HP:0010975	Abnormal B cell count	6929	TCF3	OMIM:616941
HP:0010975	Abnormal B cell count	6929	TCF3	OMIM:619824
HP:0010975	Abnormal B cell count	10625	IVNS1ABP	OMIM:618969
HP:0010975	Abnormal B cell count	79087	ALG12	ORPHA:79324
HP:0010975	Abnormal B cell count	51311	TLR8	OMIM:301078
HP:0010975	Abnormal B cell count	6850	SYK	OMIM:619381
HP:0010975	Abnormal B cell count	2624	GATA2	OMIM:614172
HP:0010975	Abnormal B cell count	567	B2M	OMIM:241600
HP:0010975	Abnormal B cell count	10320	IKZF1	OMIM:616873
HP:0010975	Abnormal B cell count	64858	DCLRE1B	OMIM:620133
HP:0010975	Abnormal B cell count	3559	IL2RA	OMIM:606367
HP:0010975	Abnormal B cell count	81704	DOCK8	ORPHA:217390
HP:0010975	Abnormal B cell count	6688	SPI1	OMIM:619707
HP:0010975	Abnormal B cell count	973	CD79A	OMIM:613501
HP:0010975	Abnormal B cell count	3543	IGLL1	OMIM:613500
HP:0010975	Abnormal B cell count	7922	SLC39A7	OMIM:619693
HP:0010975	Abnormal B cell count	1503	CTPS1	OMIM:615897
HP:0010975	Abnormal B cell count	5580	PRKCD	OMIM:615559
HP:0010975	Abnormal B cell count	2000	ELF4	OMIM:301074
HP:0010975	Abnormal B cell count	3551	IKBKB	OMIM:618204
HP:0010975	Abnormal B cell count	9138	ARHGEF1	OMIM:618459
HP:0010975	Abnormal B cell count	10043	TOM1	OMIM:619510
HP:0010975	Abnormal B cell count	51371	POMP	OMIM:618048
HP:0010975	Abnormal B cell count	3431	SP110	ORPHA:79124
HP:0010975	Abnormal B cell count	60468	BACH2	OMIM:618394
HP:0010975	Abnormal B cell count	5295	PIK3R1	OMIM:616005
HP:0010975	Abnormal B cell count	5293	PIK3CD	OMIM:615513
HP:0010975	Abnormal B cell count	8651	SOCS1	OMIM:619375
HP:0010975	Abnormal B cell count	5966	REL	OMIM:619652
HP:0010975	Abnormal B cell count	54790	TET2	OMIM:619126
HP:0010975	Abnormal B cell count	930	CD19	OMIM:613493
HP:0010975	Abnormal B cell count	3937	LCP2	OMIM:619374
HP:0010975	Abnormal B cell count	10525	HYOU1	OMIM:233600
HP:0010975	Abnormal B cell count	96459	FNIP1	OMIM:619705
HP:0010975	Abnormal B cell count	359948	IRF2BP2	OMIM:617765
HP:0010975	Abnormal B cell count	5336	PLCG2	OMIM:614878
HP:0010975	Abnormal B cell count	3570	IL6R	OMIM:618944
HP:0010975	Abnormal B cell count	987	LRBA	OMIM:614700
HP:0010975	Abnormal B cell count	59067	IL21	OMIM:615767
HP:0010975	Abnormal B cell count	56259	CTNNBL1	OMIM:619846
HP:0010975	Abnormal B cell count	29851	ICOS	OMIM:607594
HP:0010975	Abnormal B cell count	10125	RASGRP1	OMIM:618534
HP:0010977	Abnormal phagocytosis	4688	NCF2	OMIM:233710
HP:0010977	Abnormal phagocytosis	1536	CYBB	OMIM:306400
HP:0010977	Abnormal phagocytosis	653361	NCF1	OMIM:233700
HP:0010977	Abnormal phagocytosis	1535	CYBA	OMIM:233690
HP:0010978	Abnormality of immune system physiology	9860	LRIG2	OMIM:615112
HP:0010978	Abnormality of immune system physiology	9860	LRIG2	ORPHA:2704
HP:0010978	Abnormality of immune system physiology	1859	DYRK1A	ORPHA:268261
HP:0010978	Abnormality of immune system physiology	11136	SLC7A9	OMIM:220100
HP:0010978	Abnormality of immune system physiology	6519	SLC3A1	OMIM:220100
HP:0010978	Abnormality of immune system physiology	3313	HSPA9	OMIM:616854
HP:0010978	Abnormality of immune system physiology	10686	CLDN16	OMIM:248250
HP:0010978	Abnormality of immune system physiology	51726	DNAJB11	ORPHA:730
HP:0010978	Abnormality of immune system physiology	23193	GANAB	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5310	PKD1	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5311	PKD2	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5311	PKD2	OMIM:613095
HP:0010978	Abnormality of immune system physiology	29880	ALG5	ORPHA:730
HP:0010978	Abnormality of immune system physiology	80114	BICC1	ORPHA:730
HP:0010978	Abnormality of immune system physiology	54496	PRMT7	OMIM:617157
HP:0010978	Abnormality of immune system physiology	1136	CHRNA3	OMIM:191800
HP:0010978	Abnormality of immune system physiology	284252	KCTD1	ORPHA:2036
HP:0010978	Abnormality of immune system physiology	2019	EN1	OMIM:619218
HP:0010978	Abnormality of immune system physiology	672	BRCA1	ORPHA:84
HP:0010978	Abnormality of immune system physiology	10459	MAD2L2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	7516	XRCC2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	29089	UBE2T	ORPHA:84
HP:0010978	Abnormality of immune system physiology	675	BRCA2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55120	FANCL	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2177	FANCD2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2175	FANCA	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2187	FANCB	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2176	FANCC	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2178	FANCE	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2189	FANCG	ORPHA:84
HP:0010978	Abnormality of immune system physiology	5888	RAD51	ORPHA:84
HP:0010978	Abnormality of immune system physiology	5889	RAD51C	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55159	RFWD3	ORPHA:84
HP:0010978	Abnormality of immune system physiology	83990	BRIP1	ORPHA:84
HP:0010978	Abnormality of immune system physiology	57697	FANCM	ORPHA:84
HP:0010978	Abnormality of immune system physiology	79728	PALB2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	84464	SLX4	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55215	FANCI	ORPHA:84
HP:0010978	Abnormality of immune system physiology	546	ATRX	ORPHA:847
HP:0010978	Abnormality of immune system physiology	3670	ISL1	ORPHA:93930
HP:0010978	Abnormality of immune system physiology	3209	HOXA13	ORPHA:2438
HP:0010978	Abnormality of immune system physiology	10524	KAT5	OMIM:619103
HP:0010978	Abnormality of immune system physiology	149461	CLDN19	OMIM:248190
HP:0010978	Abnormality of immune system physiology	60495	HPSE2	ORPHA:2704
HP:0010978	Abnormality of immune system physiology	60495	HPSE2	OMIM:236730
HP:0010978	Abnormality of immune system physiology	6304	SATB1	OMIM:619229
HP:0010978	Abnormality of immune system physiology	28982	FLVCR1	OMIM:609033
HP:0010978	Abnormality of immune system physiology	538	ATP7A	ORPHA:198
HP:0010978	Abnormality of immune system physiology	84265	POLR3GL	OMIM:619234
HP:0010978	Abnormality of immune system physiology	54796	BNC2	ORPHA:93110
HP:0010978	Abnormality of immune system physiology	10056	FARSB	OMIM:613658
HP:0010978	Abnormality of immune system physiology	493856	CISD2	ORPHA:3463
HP:0010978	Abnormality of immune system physiology	7466	WFS1	ORPHA:3463
HP:0010978	Abnormality of immune system physiology	9380	GRHPR	ORPHA:93599
HP:0010978	Abnormality of immune system physiology	8936	WASF1	OMIM:618707
HP:0010978	Abnormality of immune system physiology	189	AGXT	ORPHA:93598
HP:0010978	Abnormality of immune system physiology	2131	EXT1	ORPHA:502
HP:0010978	Abnormality of immune system physiology	79228	THOC6	ORPHA:363444
HP:0010978	Abnormality of immune system physiology	79228	THOC6	OMIM:613680
HP:0010978	Abnormality of immune system physiology	7148	TNXB	OMIM:615963
HP:0010978	Abnormality of immune system physiology	9562	MINPP1	OMIM:619527
HP:0010978	Abnormality of immune system physiology	199221	DZIP1L	ORPHA:731
HP:0010978	Abnormality of immune system physiology	5314	PKHD1	ORPHA:731
HP:0010978	Abnormality of immune system physiology	353	APRT	ORPHA:976
HP:0010978	Abnormality of immune system physiology	9968	MED12	OMIM:301068
HP:0010978	Abnormality of immune system physiology	403	ARL3	OMIM:618161
HP:0010978	Abnormality of immune system physiology	6524	SLC5A2	ORPHA:69076
HP:0010978	Abnormality of immune system physiology	64321	SOX17	OMIM:613674
HP:0010978	Abnormality of immune system physiology	4052	LTBP1	ORPHA:90349
HP:0010978	Abnormality of immune system physiology	30008	EFEMP2	ORPHA:90349
HP:0010978	Abnormality of immune system physiology	3110	MNX1	OMIM:176450
HP:0010978	Abnormality of immune system physiology	2303	FOXC2	ORPHA:33001
HP:0010978	Abnormality of immune system physiology	56246	MRAP	ORPHA:361
HP:0010978	Abnormality of immune system physiology	6770	STAR	ORPHA:361
HP:0010978	Abnormality of immune system physiology	4158	MC2R	ORPHA:361
HP:0010978	Abnormality of immune system physiology	23530	NNT	ORPHA:361
HP:0010978	Abnormality of immune system physiology	10587	TXNRD2	ORPHA:361
HP:0010978	Abnormality of immune system physiology	3081	HGD	ORPHA:56
HP:0010978	Abnormality of immune system physiology	1493	CTLA4	ORPHA:900
HP:0010978	Abnormality of immune system physiology	3115	HLA-DPB1	ORPHA:900
HP:0010978	Abnormality of immune system physiology	5657	PRTN3	ORPHA:900
HP:0010978	Abnormality of immune system physiology	3113	HLA-DPA1	ORPHA:900
HP:0010978	Abnormality of immune system physiology	7374	UNG	OMIM:608106
HP:0010978	Abnormality of immune system physiology	7840	ALMS1	ORPHA:64
HP:0010978	Abnormality of immune system physiology	9056	SLC7A7	ORPHA:470
HP:0010978	Abnormality of immune system physiology	355	FAS	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	356	FASLG	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	5580	PRKCD	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	843	CASP10	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	10125	RASGRP1	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	720	C4A	OMIM:614380
HP:0010978	Abnormality of immune system physiology	8651	SOCS1	OMIM:619375
HP:0010978	Abnormality of immune system physiology	975	CD81	OMIM:613496
HP:0010978	Abnormality of immune system physiology	3426	CFI	OMIM:610984
HP:0010978	Abnormality of immune system physiology	1285	COL4A3	OMIM:104200
HP:0010978	Abnormality of immune system physiology	50943	FOXP3	OMIM:304790
HP:0010978	Abnormality of immune system physiology	81494	CFHR5	OMIM:614809
HP:0010978	Abnormality of immune system physiology	4010	LMX1B	OMIM:161200
HP:0010978	Abnormality of immune system physiology	4312	MMP1	ORPHA:79408
HP:0010978	Abnormality of immune system physiology	1294	COL7A1	ORPHA:79408
HP:0010978	Abnormality of immune system physiology	4311	MME	ORPHA:69063
HP:0010978	Abnormality of immune system physiology	57728	WDR19	OMIM:614376
HP:0010978	Abnormality of immune system physiology	81603	TRIM8	OMIM:619428
HP:0010978	Abnormality of immune system physiology	7369	UMOD	OMIM:162000
HP:0010978	Abnormality of immune system physiology	4613	MYCN	ORPHA:391641
HP:0010978	Abnormality of immune system physiology	1286	COL4A4	OMIM:203780
HP:0010978	Abnormality of immune system physiology	4627	MYH9	ORPHA:182050
HP:0010978	Abnormality of immune system physiology	977	CD151	OMIM:609057
HP:0010978	Abnormality of immune system physiology	847	CAT	ORPHA:926
HP:0010978	Abnormality of immune system physiology	4763	NF1	ORPHA:363700
HP:0010978	Abnormality of immune system physiology	3321	IGSF3	OMIM:149700
HP:0010978	Abnormality of immune system physiology	11011	TLK2	OMIM:618050
HP:0010978	Abnormality of immune system physiology	3590	IL11RA	OMIM:614188
HP:0010978	Abnormality of immune system physiology	64324	NSD1	ORPHA:821
HP:0010978	Abnormality of immune system physiology	10297	APC2	ORPHA:821
HP:0010978	Abnormality of immune system physiology	29123	ANKRD11	ORPHA:261250
HP:0010978	Abnormality of immune system physiology	2314	FLII	ORPHA:819
HP:0010978	Abnormality of immune system physiology	23096	IQSEC2	ORPHA:819
HP:0010978	Abnormality of immune system physiology	10743	RAI1	ORPHA:819
HP:0010978	Abnormality of immune system physiology	10522	DEAF1	ORPHA:819
HP:0010978	Abnormality of immune system physiology	23483	TGDS	ORPHA:1388
HP:0010978	Abnormality of immune system physiology	8604	SLC25A12	OMIM:612949
HP:0010978	Abnormality of immune system physiology	3071	NCKAP1L	OMIM:618982
HP:0010978	Abnormality of immune system physiology	64682	ANAPC1	OMIM:618625
HP:0010978	Abnormality of immune system physiology	9839	ZEB2	OMIM:235730
HP:0010978	Abnormality of immune system physiology	9839	ZEB2	ORPHA:261552
HP:0010978	Abnormality of immune system physiology	9839	ZEB2	ORPHA:261537
HP:0010978	Abnormality of immune system physiology	80232	WDR26	ORPHA:513456
HP:0010978	Abnormality of immune system physiology	80232	WDR26	OMIM:617616
HP:0010978	Abnormality of immune system physiology	89765	RSPH1	OMIM:615481
HP:0010978	Abnormality of immune system physiology	89765	RSPH1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	4487	MSX1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	1739	DLG1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	652	BMP4	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	999	CDH1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	5156	PDGFRA	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	3664	IRF6	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	9411	ARHGAP29	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	1748	DLX4	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	51111	KMT5B	OMIM:617788
HP:0010978	Abnormality of immune system physiology	146845	CFAP52	OMIM:619607
HP:0010978	Abnormality of immune system physiology	144568	A2ML1	OMIM:166760
HP:0010978	Abnormality of immune system physiology	8382	NME5	OMIM:620032
HP:0010978	Abnormality of immune system physiology	1301	COL11A1	OMIM:154780
HP:0010978	Abnormality of immune system physiology	56992	KIF15	ORPHA:261323
HP:0010978	Abnormality of immune system physiology	123872	DNAAF1	OMIM:613193
HP:0010978	Abnormality of immune system physiology	123872	DNAAF1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	1717	DHCR7	OMIM:270400
HP:0010978	Abnormality of immune system physiology	6885	MAP3K7	OMIM:157800
HP:0010978	Abnormality of immune system physiology	56006	SMG9	OMIM:619995
HP:0010978	Abnormality of immune system physiology	8260	NAA10	OMIM:309800
HP:0010978	Abnormality of immune system physiology	8260	NAA10	OMIM:300855
HP:0010978	Abnormality of immune system physiology	54880	BCOR	OMIM:309800
HP:0010978	Abnormality of immune system physiology	6135	RPL11	OMIM:612562
HP:0010978	Abnormality of immune system physiology	54499	TMCO1	OMIM:213980
HP:0010978	Abnormality of immune system physiology	113179	ADAT3	OMIM:615286
HP:0010978	Abnormality of immune system physiology	113179	ADAT3	ORPHA:363528
HP:0010978	Abnormality of immune system physiology	54919	DNAAF5	OMIM:614874
HP:0010978	Abnormality of immune system physiology	54919	DNAAF5	ORPHA:244
HP:0010978	Abnormality of immune system physiology	3373	HYAL1	OMIM:601492
HP:0010978	Abnormality of immune system physiology	2535	FZD2	OMIM:164745
HP:0010978	Abnormality of immune system physiology	7030	TFE3	OMIM:301066
HP:0010978	Abnormality of immune system physiology	92749	DRC1	OMIM:615294
HP:0010978	Abnormality of immune system physiology	92749	DRC1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	3978	LIG1	OMIM:619774
HP:0010978	Abnormality of immune system physiology	6603	SMARCD2	OMIM:617475
HP:0010978	Abnormality of immune system physiology	3930	LBR	OMIM:169400
HP:0010978	Abnormality of immune system physiology	246176	GAS2L2	OMIM:618449
HP:0010978	Abnormality of immune system physiology	246176	GAS2L2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	25981	DNAH1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	27148	STK36	ORPHA:244
HP:0010978	Abnormality of immune system physiology	27148	STK36	OMIM:619436
HP:0010978	Abnormality of immune system physiology	152110	NEK10	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2302	FOXJ1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	83544	DNAL1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	83538	ODAD4	ORPHA:244
HP:0010978	Abnormality of immune system physiology	200373	CFAP221	ORPHA:244
HP:0010978	Abnormality of immune system physiology	374407	DNAJB13	ORPHA:244
HP:0010978	Abnormality of immune system physiology	55172	DNAAF2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2622	GAS8	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2622	GAS8	OMIM:616726
HP:0010978	Abnormality of immune system physiology	55130	ODAD2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	55130	ODAD2	OMIM:615451
HP:0010978	Abnormality of immune system physiology	79925	SPEF2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	115399	LRRC56	ORPHA:244
HP:0010978	Abnormality of immune system physiology	115399	LRRC56	OMIM:618254
HP:0010978	Abnormality of immune system physiology	85016	CFAP300	ORPHA:244
HP:0010978	Abnormality of immune system physiology	8701	DNAH11	ORPHA:244
HP:0010978	Abnormality of immune system physiology	8701	DNAH11	OMIM:611884
HP:0010978	Abnormality of immune system physiology	1770	DNAH9	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2742	GLRA2	OMIM:301076
HP:0010978	Abnormality of immune system physiology	55023	PHIP	ORPHA:589905
HP:0010978	Abnormality of immune system physiology	29072	SETD2	OMIM:616831
HP:0010978	Abnormality of immune system physiology	1642	DDB1	OMIM:619426
HP:0010978	Abnormality of immune system physiology	388015	RTL1	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	388015	RTL1	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	8788	DLK1	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	8788	DLK1	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	55384	MEG3	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	55384	MEG3	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0010978	Abnormality of immune system physiology	100151683	RNU4ATAC	OMIM:616651
HP:0010978	Abnormality of immune system physiology	9094	UNC119	OMIM:615518
HP:0010978	Abnormality of immune system physiology	7314	UBB	ORPHA:99772
HP:0010978	Abnormality of immune system physiology	57822	GRHL3	ORPHA:99772
HP:0010978	Abnormality of immune system physiology	5575	PRKAR1B	OMIM:619680
HP:0010978	Abnormality of immune system physiology	10847	SRCAP	OMIM:136140
HP:0010978	Abnormality of immune system physiology	4297	KMT2A	OMIM:605130
HP:0010978	Abnormality of immune system physiology	2332	FMR1	ORPHA:449291
HP:0010978	Abnormality of immune system physiology	6045	RNF2	OMIM:619460
HP:0010978	Abnormality of immune system physiology	1280	COL2A1	OMIM:156550
HP:0010978	Abnormality of immune system physiology	5718	PSMD12	ORPHA:529962
HP:0010978	Abnormality of immune system physiology	2186	BPTF	ORPHA:529962
HP:0010978	Abnormality of immune system physiology	1822	ATN1	OMIM:618494
HP:0010978	Abnormality of immune system physiology	7403	KDM6A	OMIM:300867
HP:0010978	Abnormality of immune system physiology	7403	KDM6A	OMIM:147920
HP:0010978	Abnormality of immune system physiology	57003	CCDC47	OMIM:618268
HP:0010978	Abnormality of immune system physiology	5977	DPF2	OMIM:618027
HP:0010978	Abnormality of immune system physiology	55329	MNS1	OMIM:618948
HP:0010978	Abnormality of immune system physiology	920	CD4	OMIM:619238
HP:0010978	Abnormality of immune system physiology	23112	TNRC6B	OMIM:619243
HP:0010978	Abnormality of immune system physiology	5294	PIK3CG	OMIM:619802
HP:0010978	Abnormality of immune system physiology	2799	GNS	OMIM:252940
HP:0010978	Abnormality of immune system physiology	5879	RAC1	OMIM:617751
HP:0010978	Abnormality of immune system physiology	5879	RAC1	ORPHA:500159
HP:0010978	Abnormality of immune system physiology	341208	HEPHL1	OMIM:261990
HP:0010978	Abnormality of immune system physiology	6736	SRY	ORPHA:1772
HP:0010978	Abnormality of immune system physiology	5130	PCYT1A	OMIM:608940
HP:0010978	Abnormality of immune system physiology	5080	PAX6	ORPHA:2334
HP:0010978	Abnormality of immune system physiology	5080	PAX6	OMIM:148190
HP:0010978	Abnormality of immune system physiology	2263	FGFR2	OMIM:123500
HP:0010978	Abnormality of immune system physiology	5429	POLH	OMIM:278750
HP:0010978	Abnormality of immune system physiology	5429	POLH	ORPHA:90342
HP:0010978	Abnormality of immune system physiology	6935	ZEB1	OMIM:613270
HP:0010978	Abnormality of immune system physiology	8218	CLTCL1	ORPHA:453510
HP:0010978	Abnormality of immune system physiology	2074	ERCC6	OMIM:278800
HP:0010978	Abnormality of immune system physiology	204219	CERS3	ORPHA:79394
HP:0010978	Abnormality of immune system physiology	285848	PNPLA1	ORPHA:79394
HP:0010978	Abnormality of immune system physiology	9244	CRLF1	OMIM:272430
HP:0010978	Abnormality of immune system physiology	23476	BRD4	ORPHA:199
HP:0010978	Abnormality of immune system physiology	9126	SMC3	ORPHA:199
HP:0010978	Abnormality of immune system physiology	8243	SMC1A	ORPHA:199
HP:0010978	Abnormality of immune system physiology	25836	NIPBL	ORPHA:199
HP:0010978	Abnormality of immune system physiology	55869	HDAC8	ORPHA:199
HP:0010978	Abnormality of immune system physiology	5885	RAD21	ORPHA:199
HP:0010978	Abnormality of immune system physiology	5980	REV3L	ORPHA:570
HP:0010978	Abnormality of immune system physiology	23129	PLXND1	ORPHA:570
HP:0010978	Abnormality of immune system physiology	51360	MBTPS2	ORPHA:2273
HP:0010978	Abnormality of immune system physiology	51360	MBTPS2	OMIM:308800
HP:0010978	Abnormality of immune system physiology	51360	MBTPS2	OMIM:300918
HP:0010978	Abnormality of immune system physiology	348	APOE	ORPHA:158029
HP:0010978	Abnormality of immune system physiology	6868	ADAM17	OMIM:614328
HP:0010978	Abnormality of immune system physiology	6868	ADAM17	ORPHA:294023
HP:0010978	Abnormality of immune system physiology	1736	DKC1	OMIM:305000
HP:0010978	Abnormality of immune system physiology	1736	DKC1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	10804	GJB6	OMIM:129500
HP:0010978	Abnormality of immune system physiology	79650	USB1	OMIM:604173
HP:0010978	Abnormality of immune system physiology	79650	USB1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	6768	ST14	OMIM:602400
HP:0010978	Abnormality of immune system physiology	55630	SLC39A4	ORPHA:37
HP:0010978	Abnormality of immune system physiology	23556	PIGN	ORPHA:280633
HP:0010978	Abnormality of immune system physiology	9496	TBX4	ORPHA:261279
HP:0010978	Abnormality of immune system physiology	80169	CTC1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	26277	TINF2	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55651	NHP2	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55135	WRAP53	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	51750	RTEL1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	4869	NPM1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	7012	TERC	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55505	NOP10	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	5073	PARN	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	7015	TERT	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	7298	TYMS	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	5333	PLCD1	ORPHA:2387
HP:0010978	Abnormality of immune system physiology	1474	CST6	OMIM:618535
HP:0010978	Abnormality of immune system physiology	6307	MSMO1	OMIM:616834
HP:0010978	Abnormality of immune system physiology	1956	EGFR	ORPHA:294023
HP:0010978	Abnormality of immune system physiology	2068	ERCC2	ORPHA:910
HP:0010978	Abnormality of immune system physiology	7507	XPA	ORPHA:910
HP:0010978	Abnormality of immune system physiology	2071	ERCC3	ORPHA:910
HP:0010978	Abnormality of immune system physiology	7508	XPC	ORPHA:910
HP:0010978	Abnormality of immune system physiology	1643	DDB2	ORPHA:910
HP:0010978	Abnormality of immune system physiology	2072	ERCC4	ORPHA:910
HP:0010978	Abnormality of immune system physiology	2073	ERCC5	ORPHA:910
HP:0010978	Abnormality of immune system physiology	2067	ERCC1	ORPHA:90322
HP:0010978	Abnormality of immune system physiology	5075	PAX1	OMIM:615560
HP:0010978	Abnormality of immune system physiology	5340	PLG	OMIM:217090
HP:0010978	Abnormality of immune system physiology	220202	ATOH7	OMIM:221900
HP:0010978	Abnormality of immune system physiology	726	CAPN5	OMIM:193235
HP:0010978	Abnormality of immune system physiology	1281	COL3A1	OMIM:130050
HP:0010978	Abnormality of immune system physiology	1281	COL3A1	ORPHA:286
HP:0010978	Abnormality of immune system physiology	715	C1R	ORPHA:75392
HP:0010978	Abnormality of immune system physiology	715	C1R	OMIM:130080
HP:0010978	Abnormality of immune system physiology	92344	GORAB	OMIM:231070
HP:0010978	Abnormality of immune system physiology	54345	SOX18	OMIM:137940
HP:0010978	Abnormality of immune system physiology	8526	DGKE	OMIM:615008
HP:0010978	Abnormality of immune system physiology	6909	TBX2	OMIM:618223
HP:0010978	Abnormality of immune system physiology	10068	IL18BP	OMIM:618549
HP:0010978	Abnormality of immune system physiology	5428	POLG	ORPHA:94125
HP:0010978	Abnormality of immune system physiology	27022	FOXD3	OMIM:607836
HP:0010978	Abnormality of immune system physiology	1027	CDKN1B	OMIM:610755
HP:0010978	Abnormality of immune system physiology	1188	CLCNKB	ORPHA:358
HP:0010978	Abnormality of immune system physiology	6559	SLC12A3	ORPHA:358
HP:0010978	Abnormality of immune system physiology	8036	SHOC2	OMIM:607721
HP:0010978	Abnormality of immune system physiology	2235	FECH	OMIM:177000
HP:0010978	Abnormality of immune system physiology	2235	FECH	ORPHA:79278
HP:0010978	Abnormality of immune system physiology	26960	NBEA	OMIM:619157
HP:0010978	Abnormality of immune system physiology	6016	RIT1	OMIM:615355
HP:0010978	Abnormality of immune system physiology	9759	HDAC4	ORPHA:1001
HP:0010978	Abnormality of immune system physiology	9759	HDAC4	OMIM:600430
HP:0010978	Abnormality of immune system physiology	3021	H3-3B	OMIM:619721
HP:0010978	Abnormality of immune system physiology	79644	SRD5A3	OMIM:612379
HP:0010978	Abnormality of immune system physiology	5053	PAH	OMIM:261600
HP:0010978	Abnormality of immune system physiology	5053	PAH	ORPHA:79254
HP:0010978	Abnormality of immune system physiology	16	AARS1	OMIM:619691
HP:0010978	Abnormality of immune system physiology	1896	EDA	OMIM:305100
HP:0010978	Abnormality of immune system physiology	7780	SLC30A2	OMIM:608118
HP:0010978	Abnormality of immune system physiology	6821	SUOX	OMIM:272300
HP:0010978	Abnormality of immune system physiology	26053	AUTS2	ORPHA:352490
HP:0010978	Abnormality of immune system physiology	25942	SIN3A	OMIM:613406
HP:0010978	Abnormality of immune system physiology	126695	KDF1	OMIM:617337
HP:0010978	Abnormality of immune system physiology	126695	KDF1	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	25914	RTTN	ORPHA:468631
HP:0010978	Abnormality of immune system physiology	283209	PGM2L1	OMIM:620191
HP:0010978	Abnormality of immune system physiology	203190	LGI3	OMIM:620007
HP:0010978	Abnormality of immune system physiology	55181	SMG8	OMIM:619268
HP:0010978	Abnormality of immune system physiology	7189	TRAF6	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	10913	EDAR	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	5699	PSMB10	OMIM:619175
HP:0010978	Abnormality of immune system physiology	7010	TEK	ORPHA:1059
HP:0010978	Abnormality of immune system physiology	23152	CIC	OMIM:617600
HP:0010978	Abnormality of immune system physiology	2697	GJA1	ORPHA:317
HP:0010978	Abnormality of immune system physiology	2531	KDSR	ORPHA:317
HP:0010978	Abnormality of immune system physiology	127534	GJB4	ORPHA:317
HP:0010978	Abnormality of immune system physiology	4069	LYZ	OMIM:105200
HP:0010978	Abnormality of immune system physiology	2243	FGA	OMIM:105200
HP:0010978	Abnormality of immune system physiology	335	APOA1	OMIM:105200
HP:0010978	Abnormality of immune system physiology	55739	NAXD	OMIM:618321
HP:0010978	Abnormality of immune system physiology	6389	SDHA	ORPHA:44890
HP:0010978	Abnormality of immune system physiology	9181	ARHGEF2	OMIM:617523
HP:0010978	Abnormality of immune system physiology	56916	SMARCAD1	ORPHA:1658
HP:0010978	Abnormality of immune system physiology	3858	KRT10	ORPHA:312
HP:0010978	Abnormality of immune system physiology	3858	KRT10	OMIM:609165
HP:0010978	Abnormality of immune system physiology	3815	KIT	ORPHA:280785
HP:0010978	Abnormality of immune system physiology	9526	MPDU1	OMIM:609180
HP:0010978	Abnormality of immune system physiology	162	AP1B1	OMIM:242150
HP:0010978	Abnormality of immune system physiology	57609	DIP2B	OMIM:136630
HP:0010978	Abnormality of immune system physiology	4047	LSS	OMIM:618840
HP:0010978	Abnormality of immune system physiology	2707	GJB3	OMIM:133200
HP:0010978	Abnormality of immune system physiology	10682	EBP	OMIM:302960
HP:0010978	Abnormality of immune system physiology	10682	EBP	ORPHA:35173
HP:0010978	Abnormality of immune system physiology	2615	LRRC32	OMIM:619074
HP:0010978	Abnormality of immune system physiology	388698	FLG2	OMIM:618084
HP:0010978	Abnormality of immune system physiology	22800	RRAS2	OMIM:618624
HP:0010978	Abnormality of immune system physiology	10060	ABCC9	OMIM:619719
HP:0010978	Abnormality of immune system physiology	23102	TBC1D2B	ORPHA:397973
HP:0010978	Abnormality of immune system physiology	22880	MORC2	ORPHA:466768
HP:0010978	Abnormality of immune system physiology	6578	SLCO2A1	OMIM:614441
HP:0010978	Abnormality of immune system physiology	6578	SLCO2A1	OMIM:167100
HP:0010978	Abnormality of immune system physiology	6578	SLCO2A1	ORPHA:2796
HP:0010978	Abnormality of immune system physiology	79755	ZNF750	OMIM:610227
HP:0010978	Abnormality of immune system physiology	64087	MCCC2	OMIM:210210
HP:0010978	Abnormality of immune system physiology	7086	TKT	ORPHA:488618
HP:0010978	Abnormality of immune system physiology	2324	FLT4	ORPHA:79452
HP:0010978	Abnormality of immune system physiology	374393	FAM111B	OMIM:615704
HP:0010978	Abnormality of immune system physiology	9563	H6PD	OMIM:604931
HP:0010978	Abnormality of immune system physiology	5566	PRKACA	OMIM:615830
HP:0010978	Abnormality of immune system physiology	5566	PRKACA	ORPHA:189439
HP:0010978	Abnormality of immune system physiology	8622	PDE8B	ORPHA:189439
HP:0010978	Abnormality of immune system physiology	54361	WNT4	ORPHA:247768
HP:0010978	Abnormality of immune system physiology	54361	WNT4	OMIM:158330
HP:0010978	Abnormality of immune system physiology	285590	SH3PXD2B	ORPHA:137834
HP:0010978	Abnormality of immune system physiology	285590	SH3PXD2B	OMIM:249420
HP:0010978	Abnormality of immune system physiology	9060	PAPSS2	OMIM:612847
HP:0010978	Abnormality of immune system physiology	2099	ESR1	ORPHA:785
HP:0010978	Abnormality of immune system physiology	2099	ESR1	OMIM:615363
HP:0010978	Abnormality of immune system physiology	79798	ARMC5	ORPHA:189427
HP:0010978	Abnormality of immune system physiology	1584	CYP11B1	ORPHA:90795
HP:0010978	Abnormality of immune system physiology	1201	CLN3	ORPHA:228346
HP:0010978	Abnormality of immune system physiology	3973	LHCGR	ORPHA:3000
HP:0010978	Abnormality of immune system physiology	83550	GPR101	ORPHA:963
HP:0010978	Abnormality of immune system physiology	9049	AIP	ORPHA:963
HP:0010978	Abnormality of immune system physiology	64131	XYLT1	ORPHA:370930
HP:0010978	Abnormality of immune system physiology	4212	MEIS2	ORPHA:261190
HP:0010978	Abnormality of immune system physiology	5167	ENPP1	ORPHA:758
HP:0010978	Abnormality of immune system physiology	368	ABCC6	ORPHA:758
HP:0010978	Abnormality of immune system physiology	367	AR	ORPHA:99429
HP:0010978	Abnormality of immune system physiology	2255	FGF10	ORPHA:2363
HP:0010978	Abnormality of immune system physiology	55699	IARS2	OMIM:616007
HP:0010978	Abnormality of immune system physiology	1161	ERCC8	ORPHA:90324
HP:0010978	Abnormality of immune system physiology	4547	MTTP	ORPHA:14
HP:0010978	Abnormality of immune system physiology	2934	GSN	ORPHA:85448
HP:0010978	Abnormality of immune system physiology	4081	MAB21L1	OMIM:618479
HP:0010978	Abnormality of immune system physiology	2200	FBN1	OMIM:616914
HP:0010978	Abnormality of immune system physiology	165	AEBP1	ORPHA:536532
HP:0010978	Abnormality of immune system physiology	54820	NDE1	ORPHA:2177
HP:0010978	Abnormality of immune system physiology	596	BCL2	ORPHA:545
HP:0010978	Abnormality of immune system physiology	604	BCL6	ORPHA:545
HP:0010978	Abnormality of immune system physiology	29110	TBK1	OMIM:617900
HP:0010978	Abnormality of immune system physiology	81839	VANGL1	OMIM:600145
HP:0010978	Abnormality of immune system physiology	7098	TLR3	OMIM:613002
HP:0010978	Abnormality of immune system physiology	59335	PRDM12	OMIM:616488
HP:0010978	Abnormality of immune system physiology	83706	FERMT3	OMIM:612840
HP:0010978	Abnormality of immune system physiology	11322	TMC6	ORPHA:302
HP:0010978	Abnormality of immune system physiology	3574	IL7	ORPHA:302
HP:0010978	Abnormality of immune system physiology	147138	TMC8	ORPHA:302
HP:0010978	Abnormality of immune system physiology	10519	CIB1	ORPHA:302
HP:0010978	Abnormality of immune system physiology	113189	CHST14	OMIM:601776
HP:0010978	Abnormality of immune system physiology	113189	CHST14	ORPHA:2953
HP:0010978	Abnormality of immune system physiology	10525	HYOU1	OMIM:233600
HP:0010978	Abnormality of immune system physiology	4780	NFE2L2	OMIM:617744
HP:0010978	Abnormality of immune system physiology	9837	GINS1	OMIM:617827
HP:0010978	Abnormality of immune system physiology	5317	PKP1	ORPHA:158668
HP:0010978	Abnormality of immune system physiology	85358	SHANK3	ORPHA:48652
HP:0010978	Abnormality of immune system physiology	29940	DSE	ORPHA:2953
HP:0010978	Abnormality of immune system physiology	57591	MRTFA	OMIM:618847
HP:0010978	Abnormality of immune system physiology	2050	EPHB4	ORPHA:90186
HP:0010978	Abnormality of immune system physiology	3848	KRT1	ORPHA:79503
HP:0010978	Abnormality of immune system physiology	57165	GJC2	OMIM:613480
HP:0010978	Abnormality of immune system physiology	26258	BLOC1S6	OMIM:614171
HP:0010978	Abnormality of immune system physiology	3852	KRT5	ORPHA:79396
HP:0010978	Abnormality of immune system physiology	3861	KRT14	ORPHA:79396
HP:0010978	Abnormality of immune system physiology	144811	LACC1	ORPHA:85414
HP:0010978	Abnormality of immune system physiology	4094	MAF	ORPHA:1272
HP:0010978	Abnormality of immune system physiology	4094	MAF	OMIM:601088
HP:0010978	Abnormality of immune system physiology	10216	PRG4	ORPHA:2848
HP:0010978	Abnormality of immune system physiology	3662	IRF4	ORPHA:3452
HP:0010978	Abnormality of immune system physiology	2213	FCGR2B	OMIM:152700
HP:0010978	Abnormality of immune system physiology	1773	DNASE1	OMIM:152700
HP:0010978	Abnormality of immune system physiology	3039	HBA1	ORPHA:163596
HP:0010978	Abnormality of immune system physiology	3040	HBA2	ORPHA:163596
HP:0010978	Abnormality of immune system physiology	4594	MMUT	ORPHA:289916
HP:0010978	Abnormality of immune system physiology	4594	MMUT	OMIM:251000
HP:0010978	Abnormality of immune system physiology	4594	MMUT	ORPHA:79312
HP:0010978	Abnormality of immune system physiology	1629	DBT	OMIM:248600
HP:0010978	Abnormality of immune system physiology	593	BCKDHA	OMIM:248600
HP:0010978	Abnormality of immune system physiology	594	BCKDHB	OMIM:248600
HP:0010978	Abnormality of immune system physiology	4023	LPL	OMIM:238600
HP:0010978	Abnormality of immune system physiology	11330	CTRC	OMIM:167800
HP:0010978	Abnormality of immune system physiology	6690	SPINK1	OMIM:167800
HP:0010978	Abnormality of immune system physiology	5645	PRSS2	OMIM:167800
HP:0010978	Abnormality of immune system physiology	5644	PRSS1	OMIM:167800
HP:0010978	Abnormality of immune system physiology	79577	CDC73	ORPHA:143
HP:0010978	Abnormality of immune system physiology	79577	CDC73	ORPHA:99880
HP:0010978	Abnormality of immune system physiology	57104	PNPLA2	ORPHA:565612
HP:0010978	Abnormality of immune system physiology	4722	NDUFS3	OMIM:618230
HP:0010978	Abnormality of immune system physiology	63924	CIDEC	ORPHA:435651
HP:0010978	Abnormality of immune system physiology	50940	PDE11A	OMIM:610475
HP:0010978	Abnormality of immune system physiology	10165	SLC25A13	OMIM:603471
HP:0010978	Abnormality of immune system physiology	10165	SLC25A13	ORPHA:247585
HP:0010978	Abnormality of immune system physiology	72	ACTG2	OMIM:155310
HP:0010978	Abnormality of immune system physiology	2859	GPR35	ORPHA:171
HP:0010978	Abnormality of immune system physiology	10507	SEMA4D	ORPHA:171
HP:0010978	Abnormality of immune system physiology	4485	MST1	ORPHA:171
HP:0010978	Abnormality of immune system physiology	6925	TCF4	ORPHA:171
HP:0010978	Abnormality of immune system physiology	10273	STUB1	ORPHA:412057
HP:0010978	Abnormality of immune system physiology	133686	NADK2	ORPHA:431361
HP:0010978	Abnormality of immune system physiology	2538	G6PC1	OMIM:232200
HP:0010978	Abnormality of immune system physiology	26007	TKFC	OMIM:618805
HP:0010978	Abnormality of immune system physiology	5468	PPARG	ORPHA:79083
HP:0010978	Abnormality of immune system physiology	875	CBS	OMIM:236200
HP:0010978	Abnormality of immune system physiology	5095	PCCA	OMIM:606054
HP:0010978	Abnormality of immune system physiology	5096	PCCB	OMIM:606054
HP:0010978	Abnormality of immune system physiology	1175	AP2S1	OMIM:600740
HP:0010978	Abnormality of immune system physiology	9054	NFS1	OMIM:619386
HP:0010978	Abnormality of immune system physiology	64788	LMF1	OMIM:246650
HP:0010978	Abnormality of immune system physiology	344	APOC2	OMIM:207750
HP:0010978	Abnormality of immune system physiology	846	CASR	OMIM:145980
HP:0010978	Abnormality of immune system physiology	7388	UQCRH	OMIM:620137
HP:0010978	Abnormality of immune system physiology	338328	GPIHBP1	OMIM:615947
HP:0010978	Abnormality of immune system physiology	149233	IL23R	ORPHA:117
HP:0010978	Abnormality of immune system physiology	3586	IL10	ORPHA:117
HP:0010978	Abnormality of immune system physiology	1230	CCR1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	3592	IL12A	ORPHA:117
HP:0010978	Abnormality of immune system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	7099	TLR4	ORPHA:117
HP:0010978	Abnormality of immune system physiology	337867	UBAC2	ORPHA:117
HP:0010978	Abnormality of immune system physiology	51752	ERAP1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	8302	KLRC4	ORPHA:117
HP:0010978	Abnormality of immune system physiology	3155	HMGCL	ORPHA:20
HP:0010978	Abnormality of immune system physiology	286053	NSMCE2	OMIM:617253
HP:0010978	Abnormality of immune system physiology	26580	BSCL2	OMIM:269700
HP:0010978	Abnormality of immune system physiology	10555	AGPAT2	OMIM:608594
HP:0010978	Abnormality of immune system physiology	22948	CCT5	OMIM:256840
HP:0010978	Abnormality of immune system physiology	22948	CCT5	ORPHA:139578
HP:0010978	Abnormality of immune system physiology	7879	RAB7A	OMIM:600882
HP:0010978	Abnormality of immune system physiology	3702	ITK	OMIM:613011
HP:0010978	Abnormality of immune system physiology	56259	CTNNBL1	OMIM:619846
HP:0010978	Abnormality of immune system physiology	2581	GALC	OMIM:245200
HP:0010978	Abnormality of immune system physiology	2165	F13B	ORPHA:331
HP:0010978	Abnormality of immune system physiology	2162	F13A1	ORPHA:331
HP:0010978	Abnormality of immune system physiology	3123	HLA-DRB1	OMIM:181000
HP:0010978	Abnormality of immune system physiology	7454	WAS	OMIM:301000
HP:0010978	Abnormality of immune system physiology	7454	WAS	ORPHA:906
HP:0010978	Abnormality of immune system physiology	55612	FERMT1	ORPHA:2908
HP:0010978	Abnormality of immune system physiology	331	XIAP	OMIM:300635
HP:0010978	Abnormality of immune system physiology	10616	RBCK1	OMIM:615895
HP:0010978	Abnormality of immune system physiology	5243	ABCB1	OMIM:612244
HP:0010978	Abnormality of immune system physiology	6550	SLC9A3	OMIM:616868
HP:0010978	Abnormality of immune system physiology	3257	HPS1	OMIM:203300
HP:0010978	Abnormality of immune system physiology	987	LRBA	OMIM:614700
HP:0010978	Abnormality of immune system physiology	7456	WIPF1	ORPHA:906
HP:0010978	Abnormality of immune system physiology	8737	RIPK1	OMIM:618108
HP:0010978	Abnormality of immune system physiology	4210	MEFV	ORPHA:3243
HP:0010978	Abnormality of immune system physiology	10095	ARPC1B	OMIM:617718
HP:0010978	Abnormality of immune system physiology	2542	SLC37A4	OMIM:232220
HP:0010978	Abnormality of immune system physiology	2542	SLC37A4	OMIM:232240
HP:0010978	Abnormality of immune system physiology	2542	SLC37A4	ORPHA:79259
HP:0010978	Abnormality of immune system physiology	3106	HLA-B	OMIM:106300
HP:0010978	Abnormality of immune system physiology	3106	HLA-B	ORPHA:29207
HP:0010978	Abnormality of immune system physiology	5293	PIK3CD	OMIM:619281
HP:0010978	Abnormality of immune system physiology	2000	ELF4	OMIM:301074
HP:0010978	Abnormality of immune system physiology	64127	NOD2	OMIM:266600
HP:0010978	Abnormality of immune system physiology	3569	IL6	OMIM:266600
HP:0010978	Abnormality of immune system physiology	57511	COG6	OMIM:614576
HP:0010978	Abnormality of immune system physiology	345611	IRGM	OMIM:612278
HP:0010978	Abnormality of immune system physiology	59067	IL21	OMIM:615767
HP:0010978	Abnormality of immune system physiology	64858	DCLRE1B	OMIM:620133
HP:0010978	Abnormality of immune system physiology	5297	PI4KA	OMIM:619708
HP:0010978	Abnormality of immune system physiology	411	ARSB	OMIM:253200
HP:0010978	Abnormality of immune system physiology	3909	LAMA3	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	3918	LAMC2	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	3914	LAMB3	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	6720	SREBF1	OMIM:158310
HP:0010978	Abnormality of immune system physiology	10559	SLC35A1	ORPHA:238459
HP:0010978	Abnormality of immune system physiology	4125	MAN2B1	ORPHA:309282
HP:0010978	Abnormality of immune system physiology	4125	MAN2B1	ORPHA:309288
HP:0010978	Abnormality of immune system physiology	3459	IFNGR1	OMIM:209950
HP:0010978	Abnormality of immune system physiology	2188	FANCF	OMIM:603467
HP:0010978	Abnormality of immune system physiology	6445	SGCG	OMIM:253700
HP:0010978	Abnormality of immune system physiology	7852	CXCR4	ORPHA:51636
HP:0010978	Abnormality of immune system physiology	27019	DNAI1	OMIM:244400
HP:0010978	Abnormality of immune system physiology	57057	TBX20	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	4624	MYH6	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	1482	NKX2-5	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	70	ACTC1	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	10370	CITED2	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	2626	GATA4	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	2627	GATA6	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	28962	OSTM1	ORPHA:85179
HP:0010978	Abnormality of immune system physiology	54914	FOCAD	OMIM:619991
HP:0010978	Abnormality of immune system physiology	64446	DNAI2	OMIM:612444
HP:0010978	Abnormality of immune system physiology	55343	SLC35C1	OMIM:266265
HP:0010978	Abnormality of immune system physiology	2215	FCGR3B	ORPHA:464370
HP:0010978	Abnormality of immune system physiology	775	CACNA1C	OMIM:601005
HP:0010978	Abnormality of immune system physiology	5903	RANBP2	OMIM:608033
HP:0010978	Abnormality of immune system physiology	37	ACADVL	ORPHA:26793
HP:0010978	Abnormality of immune system physiology	6850	SYK	OMIM:619381
HP:0010978	Abnormality of immune system physiology	345643	MCIDAS	OMIM:618695
HP:0010978	Abnormality of immune system physiology	80199	FUZ	ORPHA:1136
HP:0010978	Abnormality of immune system physiology	21	ABCA3	ORPHA:70587
HP:0010978	Abnormality of immune system physiology	6439	SFTPB	ORPHA:70587
HP:0010978	Abnormality of immune system physiology	4054	LTBP3	OMIM:617809
HP:0010978	Abnormality of immune system physiology	2811	GP1BA	ORPHA:274
HP:0010978	Abnormality of immune system physiology	2812	GP1BB	ORPHA:274
HP:0010978	Abnormality of immune system physiology	2812	GP1BB	ORPHA:567
HP:0010978	Abnormality of immune system physiology	2815	GP9	ORPHA:274
HP:0010978	Abnormality of immune system physiology	91754	NEK9	OMIM:614262
HP:0010978	Abnormality of immune system physiology	154	ADRB2	OMIM:600807
HP:0010978	Abnormality of immune system physiology	240	ALOX5	OMIM:600807
HP:0010978	Abnormality of immune system physiology	6356	CCL11	OMIM:600807
HP:0010978	Abnormality of immune system physiology	7124	TNF	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3176	HNMT	OMIM:600807
HP:0010978	Abnormality of immune system physiology	4589	MUC7	OMIM:600807
HP:0010978	Abnormality of immune system physiology	117156	SCGB3A2	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3135	HLA-G	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3596	IL13	OMIM:600807
HP:0010978	Abnormality of immune system physiology	27125	AFF4	ORPHA:444077
HP:0010978	Abnormality of immune system physiology	9578	CDC42BPB	OMIM:619841
HP:0010978	Abnormality of immune system physiology	6812	STXBP1	ORPHA:495818
HP:0010978	Abnormality of immune system physiology	2782	GNB1	OMIM:616973
HP:0010978	Abnormality of immune system physiology	4953	ODC1	ORPHA:544488
HP:0010978	Abnormality of immune system physiology	2260	FGFR1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	28514	DLL1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2253	FGF8	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	6496	SIX3	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	7050	TGIF1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	4838	NODAL	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	6469	SHH	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	51684	SUFU	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	7546	ZIC2	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2619	GAS1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	84976	DISP1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2736	GLI2	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	8928	FOXH1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	5727	PTCH1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	50937	CDON	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2212	FCGR2A	OMIM:219700
HP:0010978	Abnormality of immune system physiology	57589	RIC1	OMIM:618761
HP:0010978	Abnormality of immune system physiology	84100	ARL6	OMIM:209900
HP:0010978	Abnormality of immune system physiology	79140	CCDC28B	OMIM:209900
HP:0010978	Abnormality of immune system physiology	582	BBS1	OMIM:209900
HP:0010978	Abnormality of immune system physiology	1312	COMT	ORPHA:567
HP:0010978	Abnormality of immune system physiology	221037	JMJD1C	ORPHA:567
HP:0010978	Abnormality of immune system physiology	6239	RREB1	ORPHA:567
HP:0010978	Abnormality of immune system physiology	6899	TBX1	ORPHA:567
HP:0010978	Abnormality of immune system physiology	6899	TBX1	OMIM:188400
HP:0010978	Abnormality of immune system physiology	7290	HIRA	ORPHA:567
HP:0010978	Abnormality of immune system physiology	9632	SEC24C	ORPHA:567
HP:0010978	Abnormality of immune system physiology	7353	UFD1	ORPHA:567
HP:0010978	Abnormality of immune system physiology	421	ARVCF	ORPHA:567
HP:0010978	Abnormality of immune system physiology	51428	DDX41	OMIM:616871
HP:0010978	Abnormality of immune system physiology	2475	MTOR	ORPHA:457485
HP:0010978	Abnormality of immune system physiology	93627	TBCK	ORPHA:488632
HP:0010978	Abnormality of immune system physiology	2783	GNB2	OMIM:619503
HP:0010978	Abnormality of immune system physiology	6785	ELOVL4	OMIM:614457
HP:0010978	Abnormality of immune system physiology	54888	NSUN2	ORPHA:235
HP:0010978	Abnormality of immune system physiology	26160	IFT172	OMIM:619471
HP:0010978	Abnormality of immune system physiology	7874	USP7	ORPHA:500055
HP:0010978	Abnormality of immune system physiology	29775	CARD10	OMIM:619632
HP:0010978	Abnormality of immune system physiology	10526	IPO8	OMIM:619472
HP:0010978	Abnormality of immune system physiology	6329	SCN4A	ORPHA:99735
HP:0010978	Abnormality of immune system physiology	2312	FLG	OMIM:146700
HP:0010978	Abnormality of immune system physiology	79796	ALG9	ORPHA:79328
HP:0010978	Abnormality of immune system physiology	374879	ZNF699	OMIM:619488
HP:0010978	Abnormality of immune system physiology	5971	RELB	OMIM:617585
HP:0010978	Abnormality of immune system physiology	3481	IGF2	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	1028	CDKN1C	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	5324	PLAG1	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	8091	HMGA2	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	55717	WDR11	OMIM:620237
HP:0010978	Abnormality of immune system physiology	10551	AGR2	OMIM:620233
HP:0010978	Abnormality of immune system physiology	55898	UNC45A	OMIM:619377
HP:0010978	Abnormality of immune system physiology	3423	IDS	OMIM:309900
HP:0010978	Abnormality of immune system physiology	3977	LIFR	ORPHA:3206
HP:0010978	Abnormality of immune system physiology	79977	GRHL2	OMIM:616029
HP:0010978	Abnormality of immune system physiology	2678	GGT1	OMIM:231950
HP:0010978	Abnormality of immune system physiology	375056	MIA3	OMIM:619269
HP:0010978	Abnormality of immune system physiology	6888	TALDO1	OMIM:606003
HP:0010978	Abnormality of immune system physiology	3476	IGBP1	OMIM:300472
HP:0010978	Abnormality of immune system physiology	535	ATP6V0A1	OMIM:619971
HP:0010978	Abnormality of immune system physiology	4281	MID1	ORPHA:2745
HP:0010978	Abnormality of immune system physiology	29957	SLC25A24	OMIM:612289
HP:0010978	Abnormality of immune system physiology	9361	LONP1	ORPHA:79243
HP:0010978	Abnormality of immune system physiology	5160	PDHA1	ORPHA:79243
HP:0010978	Abnormality of immune system physiology	378884	NHLRC1	ORPHA:501
HP:0010978	Abnormality of immune system physiology	7957	EPM2A	ORPHA:501
HP:0010978	Abnormality of immune system physiology	4842	NOS1	ORPHA:930
HP:0010978	Abnormality of immune system physiology	10755	GIPC1	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	8367	H4C5	OMIM:619950
HP:0010978	Abnormality of immune system physiology	5393	EXOSC9	OMIM:618065
HP:0010978	Abnormality of immune system physiology	5631	PRPS1	ORPHA:411543
HP:0010978	Abnormality of immune system physiology	10054	UBA2	OMIM:619959
HP:0010978	Abnormality of immune system physiology	5880	RAC2	OMIM:618986
HP:0010978	Abnormality of immune system physiology	5880	RAC2	OMIM:618987
HP:0010978	Abnormality of immune system physiology	7360	UGP2	OMIM:618744
HP:0010978	Abnormality of immune system physiology	128178	EDARADD	OMIM:614941
HP:0010978	Abnormality of immune system physiology	345895	RSPH4A	OMIM:612649
HP:0010978	Abnormality of immune system physiology	1131	CHRM3	ORPHA:2970
HP:0010978	Abnormality of immune system physiology	79848	CSPP1	ORPHA:397715
HP:0010978	Abnormality of immune system physiology	9786	KIAA0586	ORPHA:397715
HP:0010978	Abnormality of immune system physiology	5354	PLP1	ORPHA:99015
HP:0010978	Abnormality of immune system physiology	161582	DNAAF4	OMIM:615482
HP:0010978	Abnormality of immune system physiology	249	ALPL	OMIM:241500
HP:0010978	Abnormality of immune system physiology	613	BCR	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	1399	CRKL	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	5594	MAPK1	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	51506	UFC1	OMIM:618076
HP:0010978	Abnormality of immune system physiology	283489	CHAMP1	OMIM:616579
HP:0010978	Abnormality of immune system physiology	221421	RSPH9	OMIM:612650
HP:0010978	Abnormality of immune system physiology	65082	VPS33A	OMIM:617303
HP:0010978	Abnormality of immune system physiology	65082	VPS33A	ORPHA:505248
HP:0010978	Abnormality of immune system physiology	25782	RAB3GAP2	OMIM:212720
HP:0010978	Abnormality of immune system physiology	5818	NECTIN1	ORPHA:3253
HP:0010978	Abnormality of immune system physiology	55768	NGLY1	ORPHA:404454
HP:0010978	Abnormality of immune system physiology	55768	NGLY1	OMIM:615273
HP:0010978	Abnormality of immune system physiology	1536	CYBB	ORPHA:379
HP:0010978	Abnormality of immune system physiology	4688	NCF2	ORPHA:379
HP:0010978	Abnormality of immune system physiology	1535	CYBA	ORPHA:379
HP:0010978	Abnormality of immune system physiology	4689	NCF4	ORPHA:379
HP:0010978	Abnormality of immune system physiology	653361	NCF1	ORPHA:379
HP:0010978	Abnormality of immune system physiology	653361	NCF1	ORPHA:904
HP:0010978	Abnormality of immune system physiology	79415	CYBC1	ORPHA:379
HP:0010978	Abnormality of immune system physiology	54	ACP5	OMIM:607944
HP:0010978	Abnormality of immune system physiology	57492	ARID1B	OMIM:135900
HP:0010978	Abnormality of immune system physiology	284058	KANSL1	ORPHA:363958
HP:0010978	Abnormality of immune system physiology	284058	KANSL1	ORPHA:363965
HP:0010978	Abnormality of immune system physiology	6261	RYR1	OMIM:255320
HP:0010978	Abnormality of immune system physiology	6261	RYR1	ORPHA:424107
HP:0010978	Abnormality of immune system physiology	6261	RYR1	ORPHA:98905
HP:0010978	Abnormality of immune system physiology	9326	ZNHIT3	ORPHA:2836
HP:0010978	Abnormality of immune system physiology	547	KIF1A	ORPHA:2836
HP:0010978	Abnormality of immune system physiology	3572	IL6ST	OMIM:618523
HP:0010978	Abnormality of immune system physiology	340061	STING1	OMIM:615934
HP:0010978	Abnormality of immune system physiology	64359	NXN	ORPHA:1507
HP:0010978	Abnormality of immune system physiology	4920	ROR2	ORPHA:1507
HP:0010978	Abnormality of immune system physiology	7080	NKX2-1	ORPHA:209905
HP:0010978	Abnormality of immune system physiology	7080	NKX2-1	OMIM:610978
HP:0010978	Abnormality of immune system physiology	1130	LYST	ORPHA:167
HP:0010978	Abnormality of immune system physiology	1130	LYST	ORPHA:352723
HP:0010978	Abnormality of immune system physiology	100303755	PET117	OMIM:619063
HP:0010978	Abnormality of immune system physiology	171023	ASXL1	ORPHA:97297
HP:0010978	Abnormality of immune system physiology	10815	CPLX1	ORPHA:280
HP:0010978	Abnormality of immune system physiology	54872	PIGG	ORPHA:280
HP:0010978	Abnormality of immune system physiology	7469	NELFA	ORPHA:280
HP:0010978	Abnormality of immune system physiology	1487	CTBP1	ORPHA:280
HP:0010978	Abnormality of immune system physiology	3954	LETM1	ORPHA:280
HP:0010978	Abnormality of immune system physiology	7468	NSD2	ORPHA:280
HP:0010978	Abnormality of immune system physiology	57190	SELENON	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	58	ACTA1	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	4633	MYL2	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	3679	ITGA7	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	7169	TPM2	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	9200	HACD1	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	7170	TPM3	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	51776	MAP3K20	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	567	B2M	OMIM:241600
HP:0010978	Abnormality of immune system physiology	79813	EHMT1	OMIM:610253
HP:0010978	Abnormality of immune system physiology	1789	DNMT3B	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	9841	ZBTB24	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	2752	GLUL	OMIM:610015
HP:0010978	Abnormality of immune system physiology	3425	IDUA	OMIM:607014
HP:0010978	Abnormality of immune system physiology	3425	IDUA	OMIM:607015
HP:0010978	Abnormality of immune system physiology	3425	IDUA	ORPHA:93473
HP:0010978	Abnormality of immune system physiology	175	AGA	ORPHA:93
HP:0010978	Abnormality of immune system physiology	175	AGA	OMIM:208400
HP:0010978	Abnormality of immune system physiology	2214	FCGR3A	OMIM:615707
HP:0010978	Abnormality of immune system physiology	4853	NOTCH2	ORPHA:955
HP:0010978	Abnormality of immune system physiology	113278	SLC52A3	OMIM:211530
HP:0010978	Abnormality of immune system physiology	7092	TLL1	ORPHA:99106
HP:0010978	Abnormality of immune system physiology	4534	MTM1	ORPHA:596
HP:0010978	Abnormality of immune system physiology	330	BIRC3	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	27086	FOXP1	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	3492	IGH	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	8915	BCL10	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	10043	TOM1	OMIM:619510
HP:0010978	Abnormality of immune system physiology	83861	RSPH3	OMIM:616481
HP:0010978	Abnormality of immune system physiology	55773	TBC1D23	OMIM:617695
HP:0010978	Abnormality of immune system physiology	9508	ADAMTS3	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	147372	CCBE1	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	79633	FAT4	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	6804	STX1A	ORPHA:904
HP:0010978	Abnormality of immune system physiology	6804	STX1A	ORPHA:586
HP:0010978	Abnormality of immune system physiology	7461	CLIP2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	84277	DNAJC30	ORPHA:904
HP:0010978	Abnormality of immune system physiology	8468	FKBP6	ORPHA:904
HP:0010978	Abnormality of immune system physiology	5982	RFC2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	2969	GTF2I	ORPHA:904
HP:0010978	Abnormality of immune system physiology	3984	LIMK1	ORPHA:904
HP:0010978	Abnormality of immune system physiology	9569	GTF2IRD1	ORPHA:904
HP:0010978	Abnormality of immune system physiology	155382	VPS37D	ORPHA:904
HP:0010978	Abnormality of immune system physiology	155368	METTL27	ORPHA:904
HP:0010978	Abnormality of immune system physiology	114049	BUD23	ORPHA:904
HP:0010978	Abnormality of immune system physiology	7458	EIF4H	ORPHA:904
HP:0010978	Abnormality of immune system physiology	84163	GTF2IRD2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	9275	BCL7B	ORPHA:904
HP:0010978	Abnormality of immune system physiology	26608	TBL2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	135886	TMEM270	ORPHA:904
HP:0010978	Abnormality of immune system physiology	51085	MLXIPL	ORPHA:904
HP:0010978	Abnormality of immune system physiology	9031	BAZ1B	ORPHA:904
HP:0010978	Abnormality of immune system physiology	2006	ELN	ORPHA:904
HP:0010978	Abnormality of immune system physiology	8364	H4C3	OMIM:619758
HP:0010978	Abnormality of immune system physiology	11128	POLR3A	OMIM:264090
HP:0010978	Abnormality of immune system physiology	3675	ITGA3	OMIM:614748
HP:0010978	Abnormality of immune system physiology	8085	KMT2D	OMIM:620186
HP:0010978	Abnormality of immune system physiology	415	ARSL	ORPHA:79345
HP:0010978	Abnormality of immune system physiology	6609	SMPD1	OMIM:257200
HP:0010978	Abnormality of immune system physiology	6609	SMPD1	OMIM:607616
HP:0010978	Abnormality of immune system physiology	472	ATM	ORPHA:100
HP:0010978	Abnormality of immune system physiology	2990	GUSB	ORPHA:584
HP:0010978	Abnormality of immune system physiology	2947	GSTM3	ORPHA:586
HP:0010978	Abnormality of immune system physiology	7040	TGFB1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	7040	TGFB1	OMIM:618213
HP:0010978	Abnormality of immune system physiology	2729	GCLC	ORPHA:586
HP:0010978	Abnormality of immune system physiology	1084	CEACAM3	ORPHA:586
HP:0010978	Abnormality of immune system physiology	6556	SLC11A1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	51164	DCTN4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	3783	KCNN4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	4282	MIF	ORPHA:586
HP:0010978	Abnormality of immune system physiology	1909	EDNRA	ORPHA:586
HP:0010978	Abnormality of immune system physiology	115019	SLC26A9	ORPHA:586
HP:0010978	Abnormality of immune system physiology	3077	HFE	ORPHA:586
HP:0010978	Abnormality of immune system physiology	11254	SLC6A14	ORPHA:586
HP:0010978	Abnormality of immune system physiology	5265	SERPINA1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	1080	CFTR	ORPHA:586
HP:0010978	Abnormality of immune system physiology	22802	CLCA4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	4680	CEACAM6	ORPHA:586
HP:0010978	Abnormality of immune system physiology	4644	MYO5A	ORPHA:33445
HP:0010978	Abnormality of immune system physiology	9321	TRIP11	OMIM:184260
HP:0010978	Abnormality of immune system physiology	8481	OFD1	OMIM:300209
HP:0010978	Abnormality of immune system physiology	4256	MGP	ORPHA:85202
HP:0010978	Abnormality of immune system physiology	2316	FLNA	ORPHA:2484
HP:0010978	Abnormality of immune system physiology	2316	FLNA	OMIM:309350
HP:0010978	Abnormality of immune system physiology	9772	TMEM94	OMIM:618316
HP:0010978	Abnormality of immune system physiology	9338	TCEAL1	OMIM:301094
HP:0010978	Abnormality of immune system physiology	26154	ABCA12	ORPHA:457
HP:0010978	Abnormality of immune system physiology	26154	ABCA12	ORPHA:313
HP:0010978	Abnormality of immune system physiology	85452	CFAP74	OMIM:620197
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177907
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	OMIM:176270
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:398069
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	145873	MESP2	OMIM:608681
HP:0010978	Abnormality of immune system physiology	145873	MESP2	OMIM:277300
HP:0010978	Abnormality of immune system physiology	8242	KDM5C	OMIM:300534
HP:0010978	Abnormality of immune system physiology	197258	FCSK	OMIM:618324
HP:0010978	Abnormality of immune system physiology	79989	IFT56	OMIM:619534
HP:0010978	Abnormality of immune system physiology	84522	JAGN1	OMIM:616022
HP:0010978	Abnormality of immune system physiology	7994	KAT6A	OMIM:616268
HP:0010978	Abnormality of immune system physiology	23219	FBXO28	OMIM:619777
HP:0010978	Abnormality of immune system physiology	51322	WAC	ORPHA:466950
HP:0010978	Abnormality of immune system physiology	6509	SLC1A4	ORPHA:447997
HP:0010978	Abnormality of immune system physiology	79087	ALG12	ORPHA:79324
HP:0010978	Abnormality of immune system physiology	6595	SMARCA2	OMIM:601358
HP:0010978	Abnormality of immune system physiology	2629	GBA1	ORPHA:77261
HP:0010978	Abnormality of immune system physiology	2629	GBA1	ORPHA:77260
HP:0010978	Abnormality of immune system physiology	9742	IFT140	OMIM:266920
HP:0010978	Abnormality of immune system physiology	93233	ODAD1	OMIM:615067
HP:0010978	Abnormality of immune system physiology	56683	CFAP298	OMIM:615500
HP:0010978	Abnormality of immune system physiology	115948	ODAD3	OMIM:616037
HP:0010978	Abnormality of immune system physiology	85478	CCDC65	OMIM:615504
HP:0010978	Abnormality of immune system physiology	7227	TRPS1	OMIM:190350
HP:0010978	Abnormality of immune system physiology	6674	SPAG1	OMIM:615505
HP:0010978	Abnormality of immune system physiology	51053	GMNN	OMIM:616835
HP:0010978	Abnormality of immune system physiology	7319	UBE2A	ORPHA:163956
HP:0010978	Abnormality of immune system physiology	5062	PAK2	OMIM:618458
HP:0010978	Abnormality of immune system physiology	51314	NME8	OMIM:610852
HP:0010978	Abnormality of immune system physiology	79751	SLC25A22	ORPHA:1935
HP:0010978	Abnormality of immune system physiology	150094	SIK1	ORPHA:1935
HP:0010978	Abnormality of immune system physiology	5830	PEX5	OMIM:616716
HP:0010978	Abnormality of immune system physiology	219285	SAMD9L	ORPHA:2585
HP:0010978	Abnormality of immune system physiology	4126	MANBA	ORPHA:118
HP:0010978	Abnormality of immune system physiology	1288	COL4A6	ORPHA:1018
HP:0010978	Abnormality of immune system physiology	1287	COL4A5	ORPHA:1018
HP:0010978	Abnormality of immune system physiology	139212	DNAAF6	OMIM:300991
HP:0010978	Abnormality of immune system physiology	89891	DYNC2I2	OMIM:615633
HP:0010978	Abnormality of immune system physiology	10806	SDCCAG8	OMIM:615993
HP:0010978	Abnormality of immune system physiology	10309	CCNO	OMIM:615872
HP:0010978	Abnormality of immune system physiology	23394	ADNP	OMIM:615873
HP:0010978	Abnormality of immune system physiology	8818	DPM2	ORPHA:329178
HP:0010978	Abnormality of immune system physiology	113235	SLC46A1	ORPHA:90045
HP:0010978	Abnormality of immune system physiology	7681	MKRN3	OMIM:176270
HP:0010978	Abnormality of immune system physiology	3653	IPW	OMIM:176270
HP:0010978	Abnormality of immune system physiology	791114	PWRN1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	100033413	SNORD116-1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	8924	HERC2	OMIM:176270
HP:0010978	Abnormality of immune system physiology	145624	PWAR1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	23742	NPAP1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	338433	SNORD115-1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	1186	CLCN7	ORPHA:667
HP:0010978	Abnormality of immune system physiology	29887	SNX10	ORPHA:667
HP:0010978	Abnormality of immune system physiology	8600	TNFSF11	ORPHA:667
HP:0010978	Abnormality of immune system physiology	7372	UMPS	ORPHA:30
HP:0010978	Abnormality of immune system physiology	54768	HYDIN	OMIM:608647
HP:0010978	Abnormality of immune system physiology	57379	AICDA	OMIM:605258
HP:0010978	Abnormality of immune system physiology	1387	CREBBP	ORPHA:353281
HP:0010978	Abnormality of immune system physiology	1387	CREBBP	ORPHA:353277
HP:0010978	Abnormality of immune system physiology	23114	NFASC	OMIM:618356
HP:0010978	Abnormality of immune system physiology	4792	NFKBIA	OMIM:612132
HP:0010978	Abnormality of immune system physiology	6606	SMN1	OMIM:253550
HP:0010978	Abnormality of immune system physiology	6606	SMN1	OMIM:253300
HP:0010978	Abnormality of immune system physiology	6905	TBCE	ORPHA:2323
HP:0010978	Abnormality of immune system physiology	83479	DDX59	OMIM:174300
HP:0010978	Abnormality of immune system physiology	6492	SIM1	ORPHA:398079
HP:0010978	Abnormality of immune system physiology	388389	CCDC103	OMIM:614679
HP:0010978	Abnormality of immune system physiology	5660	PSAP	ORPHA:139406
HP:0010978	Abnormality of immune system physiology	2033	EP300	ORPHA:353284
HP:0010978	Abnormality of immune system physiology	7248	TSC1	ORPHA:538
HP:0010978	Abnormality of immune system physiology	7249	TSC2	ORPHA:538
HP:0010978	Abnormality of immune system physiology	1767	DNAH5	OMIM:608644
HP:0010978	Abnormality of immune system physiology	10683	DLL3	OMIM:277300
HP:0010978	Abnormality of immune system physiology	4952	OCRL	ORPHA:534
HP:0010978	Abnormality of immune system physiology	4068	SH2D1A	OMIM:308240
HP:0010978	Abnormality of immune system physiology	427	ASAH1	OMIM:159950
HP:0010978	Abnormality of immune system physiology	79158	GNPTAB	ORPHA:576
HP:0010978	Abnormality of immune system physiology	57551	TAOK1	OMIM:619575
HP:0010978	Abnormality of immune system physiology	4621	MYH3	OMIM:193700
HP:0010978	Abnormality of immune system physiology	3394	IRF8	OMIM:226990
HP:0010978	Abnormality of immune system physiology	6335	SCN9A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	11280	SCN11A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	6336	SCN10A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	6774	STAT3	ORPHA:2314
HP:0010978	Abnormality of immune system physiology	54970	TTC12	OMIM:618801
HP:0010978	Abnormality of immune system physiology	55764	IFT122	OMIM:218330
HP:0010978	Abnormality of immune system physiology	7703	PCGF2	OMIM:618371
HP:0010978	Abnormality of immune system physiology	774	CACNA1B	OMIM:618497
HP:0010978	Abnormality of immune system physiology	4478	MSN	OMIM:300988
HP:0010978	Abnormality of immune system physiology	7161	TP73	OMIM:619466
HP:0010978	Abnormality of immune system physiology	254428	SLC41A1	OMIM:619468
HP:0010978	Abnormality of immune system physiology	51300	TIMMDC1	OMIM:618251
HP:0010978	Abnormality of immune system physiology	8802	SUCLG1	ORPHA:17
HP:0010978	Abnormality of immune system physiology	146206	CARMIL2	OMIM:618131
HP:0010978	Abnormality of immune system physiology	84818	IL17RC	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	64581	CLEC7A	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	112744	IL17F	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	860	RUNX2	ORPHA:1452
HP:0010978	Abnormality of immune system physiology	25839	COG4	OMIM:613489
HP:0010978	Abnormality of immune system physiology	23495	TNFRSF13B	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	4790	NFKB1	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	115650	TNFRSF13C	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	1380	CR2	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	1380	CR2	OMIM:614699
HP:0010978	Abnormality of immune system physiology	8742	TNFSF12	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	930	CD19	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	930	CD19	OMIM:613493
HP:0010978	Abnormality of immune system physiology	29851	ICOS	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	931	MS4A1	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	931	MS4A1	OMIM:613495
HP:0010978	Abnormality of immune system physiology	8883	NAE1	OMIM:620210
HP:0010978	Abnormality of immune system physiology	151516	ASPRV1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	242	ALOX12B	ORPHA:313
HP:0010978	Abnormality of immune system physiology	126410	CYP4F22	ORPHA:313
HP:0010978	Abnormality of immune system physiology	6820	SULT2B1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	643418	LIPN	ORPHA:313
HP:0010978	Abnormality of immune system physiology	59344	ALOXE3	ORPHA:313
HP:0010978	Abnormality of immune system physiology	348938	NIPAL4	ORPHA:313
HP:0010978	Abnormality of immune system physiology	121214	SDR9C7	ORPHA:313
HP:0010978	Abnormality of immune system physiology	7051	TGM1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	55036	CCDC40	OMIM:613808
HP:0010978	Abnormality of immune system physiology	1075	CTSC	ORPHA:678
HP:0010978	Abnormality of immune system physiology	339829	CCDC39	OMIM:613807
HP:0010978	Abnormality of immune system physiology	8943	AP3D1	OMIM:617050
HP:0010978	Abnormality of immune system physiology	2517	FUCA1	OMIM:230000
HP:0010978	Abnormality of immune system physiology	2548	GAA	OMIM:232300
HP:0010978	Abnormality of immune system physiology	84665	MYPN	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	2318	FLNC	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	7139	TNNT2	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	7137	TNNI3	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	10112	KIF20A	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	1836	SLC26A2	ORPHA:628
HP:0010978	Abnormality of immune system physiology	5184	PEPD	ORPHA:742
HP:0010978	Abnormality of immune system physiology	3636	INPPL1	OMIM:258480
HP:0010978	Abnormality of immune system physiology	3636	INPPL1	ORPHA:2746
HP:0010978	Abnormality of immune system physiology	2077	ERF	OMIM:617180
HP:0010978	Abnormality of immune system physiology	3845	KRAS	OMIM:614470
HP:0010978	Abnormality of immune system physiology	4893	NRAS	OMIM:614470
HP:0010978	Abnormality of immune system physiology	374354	NHLRC2	OMIM:618278
HP:0010978	Abnormality of immune system physiology	55617	TASP1	OMIM:618950
HP:0010978	Abnormality of immune system physiology	54790	TET2	OMIM:619126
HP:0010978	Abnormality of immune system physiology	8239	USP9X	OMIM:300968
HP:0010978	Abnormality of immune system physiology	51124	IER3IP1	OMIM:614231
HP:0010978	Abnormality of immune system physiology	57477	SHROOM4	ORPHA:85288
HP:0010978	Abnormality of immune system physiology	84340	GFM2	OMIM:618397
HP:0010978	Abnormality of immune system physiology	10398	MYL9	OMIM:619365
HP:0010978	Abnormality of immune system physiology	10293	TRAIP	OMIM:616777
HP:0010978	Abnormality of immune system physiology	6911	TBX6	ORPHA:1797
HP:0010978	Abnormality of immune system physiology	11005	SPINK5	OMIM:256500
HP:0010978	Abnormality of immune system physiology	11005	SPINK5	ORPHA:634
HP:0010978	Abnormality of immune system physiology	51364	ZMYND10	OMIM:615444
HP:0010978	Abnormality of immune system physiology	2890	GRIA1	OMIM:619927
HP:0010978	Abnormality of immune system physiology	50615	IL21R	OMIM:615207
HP:0010978	Abnormality of immune system physiology	60482	SLC5A7	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	4649	MYO9A	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	1305	COL13A1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	1103	CHAT	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6576	SLC25A1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6843	VAMP1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	375790	AGRN	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	127833	SYT2	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6572	SLC18A3	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6616	SNAP25	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6337	SCNN1A	OMIM:264350
HP:0010978	Abnormality of immune system physiology	1893	ECM1	ORPHA:530
HP:0010978	Abnormality of immune system physiology	9895	TECPR2	ORPHA:320385
HP:0010978	Abnormality of immune system physiology	4938	OAS1	OMIM:618042
HP:0010978	Abnormality of immune system physiology	738	VPS51	OMIM:618606
HP:0010978	Abnormality of immune system physiology	5116	PCNT	ORPHA:2637
HP:0010978	Abnormality of immune system physiology	5430	POLR2A	OMIM:618603
HP:0010978	Abnormality of immune system physiology	4683	NBN	ORPHA:647
HP:0010978	Abnormality of immune system physiology	23522	KAT6B	ORPHA:3047
HP:0010978	Abnormality of immune system physiology	26123	TCTN3	ORPHA:2753
HP:0010978	Abnormality of immune system physiology	10516	FBLN5	OMIM:219100
HP:0010978	Abnormality of immune system physiology	9897	WASHC5	ORPHA:7
HP:0010978	Abnormality of immune system physiology	28952	CCDC22	ORPHA:7
HP:0010978	Abnormality of immune system physiology	4204	MECP2	OMIM:300260
HP:0010978	Abnormality of immune system physiology	129285	PPP1R21	OMIM:619383
HP:0010978	Abnormality of immune system physiology	406932	MIR140	OMIM:618618
HP:0010978	Abnormality of immune system physiology	25871	NEPRO	OMIM:618853
HP:0010978	Abnormality of immune system physiology	352909	DNAAF3	OMIM:606763
HP:0010978	Abnormality of immune system physiology	23639	DNAAF11	OMIM:614935
HP:0010978	Abnormality of immune system physiology	9325	TRIP4	ORPHA:486815
HP:0010978	Abnormality of immune system physiology	54968	TMEM70	ORPHA:1194
HP:0010978	Abnormality of immune system physiology	340024	SLC6A19	ORPHA:2116
HP:0010978	Abnormality of immune system physiology	57393	CLTRN	ORPHA:2116
HP:0010978	Abnormality of immune system physiology	79944	L2HGDH	ORPHA:79314
HP:0010978	Abnormality of immune system physiology	3587	IL10RA	OMIM:613148
HP:0010978	Abnormality of immune system physiology	2153	F5	ORPHA:131
HP:0010978	Abnormality of immune system physiology	4868	NPHS1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23607	CD2AP	ORPHA:656
HP:0010978	Abnormality of immune system physiology	9688	NUP93	ORPHA:656
HP:0010978	Abnormality of immune system physiology	4643	MYO1E	ORPHA:656
HP:0010978	Abnormality of immune system physiology	64423	INF2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	26130	GAPVD1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7490	WT1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	57122	NUP107	ORPHA:656
HP:0010978	Abnormality of immune system physiology	51479	ANKFY1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	54443	ANLN	ORPHA:656
HP:0010978	Abnormality of immune system physiology	5800	PTPRO	ORPHA:656
HP:0010978	Abnormality of immune system physiology	286204	CRB2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23165	NUP205	ORPHA:656
HP:0010978	Abnormality of immune system physiology	2013	EMP2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79023	NUP37	ORPHA:656
HP:0010978	Abnormality of immune system physiology	51196	PLCE1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79902	NUP85	ORPHA:656
HP:0010978	Abnormality of immune system physiology	396	ARHGDIA	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79934	COQ8B	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23279	NUP160	ORPHA:656
HP:0010978	Abnormality of immune system physiology	9863	MAGI2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	81	ACTN4	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7225	TRPC6	ORPHA:656
HP:0010978	Abnormality of immune system physiology	8542	APOL1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	54885	TBC1D8B	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7827	NPHS2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	83478	ARHGAP24	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23500	DAAM2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	5076	PAX2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	55746	NUP133	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23314	SATB2	ORPHA:576283
HP:0010978	Abnormality of immune system physiology	51256	TBC1D7	OMIM:248000
HP:0010978	Abnormality of immune system physiology	29998	BICRA	OMIM:619325
HP:0010978	Abnormality of immune system physiology	5873	RAB27A	OMIM:607624
HP:0010978	Abnormality of immune system physiology	10456	HAX1	OMIM:610738
HP:0010978	Abnormality of immune system physiology	27183	VPS4A	OMIM:619273
HP:0010978	Abnormality of immune system physiology	7528	YY1	ORPHA:506358
HP:0010978	Abnormality of immune system physiology	7528	YY1	OMIM:617557
HP:0010978	Abnormality of immune system physiology	26235	FBXL4	OMIM:615471
HP:0010978	Abnormality of immune system physiology	8854	ALDH1A2	OMIM:620025
HP:0010978	Abnormality of immune system physiology	7018	TF	ORPHA:1195
HP:0010978	Abnormality of immune system physiology	80816	ASXL3	OMIM:615485
HP:0010978	Abnormality of immune system physiology	89910	UBE3B	OMIM:244450
HP:0010978	Abnormality of immune system physiology	9382	COG1	OMIM:611209
HP:0010978	Abnormality of immune system physiology	9739	SETD1A	OMIM:619056
HP:0010978	Abnormality of immune system physiology	80204	FBXO11	OMIM:618089
HP:0010978	Abnormality of immune system physiology	1656	DDX6	OMIM:618653
HP:0010978	Abnormality of immune system physiology	26057	ANKRD17	OMIM:619504
HP:0010978	Abnormality of immune system physiology	8493	PPM1D	OMIM:617450
HP:0010978	Abnormality of immune system physiology	23126	POGZ	OMIM:616364
HP:0010978	Abnormality of immune system physiology	51692	CPSF3	OMIM:619876
HP:0010978	Abnormality of immune system physiology	6134	RPL10	ORPHA:459070
HP:0010978	Abnormality of immune system physiology	6134	RPL10	OMIM:300998
HP:0010978	Abnormality of immune system physiology	6134	RPL10	ORPHA:435938
HP:0010978	Abnormality of immune system physiology	83475	DOHH	OMIM:620066
HP:0010978	Abnormality of immune system physiology	92667	MGME1	ORPHA:352447
HP:0010978	Abnormality of immune system physiology	92667	MGME1	OMIM:615084
HP:0010978	Abnormality of immune system physiology	58508	KMT2C	ORPHA:261652
HP:0010978	Abnormality of immune system physiology	91949	COG7	ORPHA:79333
HP:0010978	Abnormality of immune system physiology	91949	COG7	OMIM:608779
HP:0010978	Abnormality of immune system physiology	7355	SLC35A2	OMIM:300896
HP:0010978	Abnormality of immune system physiology	64116	SLC39A8	ORPHA:468699
HP:0010978	Abnormality of immune system physiology	64116	SLC39A8	OMIM:616721
HP:0010978	Abnormality of immune system physiology	10195	ALG3	ORPHA:79321
HP:0010978	Abnormality of immune system physiology	8295	TRRAP	OMIM:618454
HP:0010978	Abnormality of immune system physiology	3980	LIG3	OMIM:619780
HP:0010978	Abnormality of immune system physiology	5256	PHKA2	ORPHA:264580
HP:0010978	Abnormality of immune system physiology	5261	PHKG2	ORPHA:264580
HP:0010978	Abnormality of immune system physiology	1441	CSF3R	OMIM:617014
HP:0010978	Abnormality of immune system physiology	128869	PIGU	OMIM:618590
HP:0010978	Abnormality of immune system physiology	79868	ALG13	OMIM:300884
HP:0010978	Abnormality of immune system physiology	998	CDC42	OMIM:616737
HP:0010978	Abnormality of immune system physiology	998	CDC42	ORPHA:487796
HP:0010978	Abnormality of immune system physiology	27185	DISC1	ORPHA:171703
HP:0010978	Abnormality of immune system physiology	8320	EOMES	ORPHA:171703
HP:0010978	Abnormality of immune system physiology	3643	INSR	OMIM:246200
HP:0010978	Abnormality of immune system physiology	3643	INSR	ORPHA:769
HP:0010978	Abnormality of immune system physiology	2917	GRM7	OMIM:618922
HP:0010978	Abnormality of immune system physiology	5257	PHKB	ORPHA:79240
HP:0010978	Abnormality of immune system physiology	55340	GIMAP5	OMIM:619463
HP:0010978	Abnormality of immune system physiology	9419	CRIPT	OMIM:615789
HP:0010978	Abnormality of immune system physiology	2892	GRIA3	ORPHA:364028
HP:0010978	Abnormality of immune system physiology	29927	SEC61A1	OMIM:617056
HP:0010978	Abnormality of immune system physiology	23568	ARL2BP	OMIM:615434
HP:0010978	Abnormality of immune system physiology	6513	SLC2A1	ORPHA:168577
HP:0010978	Abnormality of immune system physiology	7204	TRIO	OMIM:617061
HP:0010978	Abnormality of immune system physiology	7204	TRIO	ORPHA:476126
HP:0010978	Abnormality of immune system physiology	283989	TSEN54	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	116461	TSEN15	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	79042	TSEN34	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	80746	TSEN2	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	51091	SEPSECS	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	5970	RELA	OMIM:618287
HP:0010978	Abnormality of immune system physiology	2806	GOT2	OMIM:618721
HP:0010978	Abnormality of immune system physiology	23389	MED13L	OMIM:616789
HP:0010978	Abnormality of immune system physiology	9757	KMT2B	OMIM:619934
HP:0010978	Abnormality of immune system physiology	9451	EIF2AK3	ORPHA:1667
HP:0010978	Abnormality of immune system physiology	118429	ANTXR2	OMIM:228600
HP:0010978	Abnormality of immune system physiology	131669	UROC1	ORPHA:210128
HP:0010978	Abnormality of immune system physiology	7293	TNFRSF4	OMIM:615593
HP:0010978	Abnormality of immune system physiology	79083	MLPH	OMIM:609227
HP:0010978	Abnormality of immune system physiology	166378	AFG2A	OMIM:616577
HP:0010978	Abnormality of immune system physiology	8029	CUBN	ORPHA:35858
HP:0010978	Abnormality of immune system physiology	81693	AMN	ORPHA:35858
HP:0010978	Abnormality of immune system physiology	60	ACTB	ORPHA:79107
HP:0010978	Abnormality of immune system physiology	53834	FGFRL1	OMIM:194190
HP:0010978	Abnormality of immune system physiology	4609	MYC	OMIM:113970
HP:0010978	Abnormality of immune system physiology	8450	CUL4B	ORPHA:85293
HP:0010978	Abnormality of immune system physiology	65057	ACD	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	178	AGL	ORPHA:366
HP:0010978	Abnormality of immune system physiology	717	C2	OMIM:217000
HP:0010978	Abnormality of immune system physiology	10501	SEMA6B	OMIM:618876
HP:0010978	Abnormality of immune system physiology	25923	ATL3	OMIM:615632
HP:0010978	Abnormality of immune system physiology	25923	ATL3	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	4803	NGF	OMIM:608654
HP:0010978	Abnormality of immune system physiology	1786	DNMT1	OMIM:614116
HP:0010978	Abnormality of immune system physiology	51062	ATL1	OMIM:613708
HP:0010978	Abnormality of immune system physiology	51062	ATL1	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	10558	SPTLC1	OMIM:162400
HP:0010978	Abnormality of immune system physiology	10558	SPTLC1	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	54463	RETREG1	OMIM:613115
HP:0010978	Abnormality of immune system physiology	205327	C2orf69	OMIM:619423
HP:0010978	Abnormality of immune system physiology	9517	SPTLC2	OMIM:613640
HP:0010978	Abnormality of immune system physiology	9517	SPTLC2	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	1291	COL6A1	OMIM:254090
HP:0010978	Abnormality of immune system physiology	1292	COL6A2	OMIM:254090
HP:0010978	Abnormality of immune system physiology	1293	COL6A3	OMIM:254090
HP:0010978	Abnormality of immune system physiology	79912	PYROXD1	OMIM:617258
HP:0010978	Abnormality of immune system physiology	8021	NUP214	OMIM:618426
HP:0010978	Abnormality of immune system physiology	79759	ZNF668	OMIM:620194
HP:0010978	Abnormality of immune system physiology	6809	STX3	OMIM:619446
HP:0010978	Abnormality of immune system physiology	91869	RFT1	OMIM:612015
HP:0010978	Abnormality of immune system physiology	3913	LAMB2	ORPHA:98915
HP:0010978	Abnormality of immune system physiology	6662	SOX9	OMIM:114290
HP:0010978	Abnormality of immune system physiology	4718	NDUFC2	OMIM:619170
HP:0010978	Abnormality of immune system physiology	2530	FUT8	OMIM:618005
HP:0010978	Abnormality of immune system physiology	50628	GEMIN4	OMIM:617913
HP:0010978	Abnormality of immune system physiology	4591	TRIM37	OMIM:253250
HP:0010978	Abnormality of immune system physiology	7407	VARS1	OMIM:617802
HP:0010978	Abnormality of immune system physiology	6448	SGSH	OMIM:252900
HP:0010978	Abnormality of immune system physiology	79803	HPS6	OMIM:614075
HP:0010978	Abnormality of immune system physiology	23247	KATNIP	OMIM:616784
HP:0010978	Abnormality of immune system physiology	138050	HGSNAT	OMIM:252930
HP:0010978	Abnormality of immune system physiology	4669	NAGLU	OMIM:252920
HP:0010978	Abnormality of immune system physiology	54808	DYM	ORPHA:239
HP:0010978	Abnormality of immune system physiology	3588	IL10RB	OMIM:612567
HP:0010978	Abnormality of immune system physiology	6901	TAFAZZIN	OMIM:302060
HP:0010978	Abnormality of immune system physiology	958	CD40	OMIM:606843
HP:0010978	Abnormality of immune system physiology	51604	PIGT	ORPHA:369837
HP:0010978	Abnormality of immune system physiology	6948	TCN2	OMIM:275350
HP:0010978	Abnormality of immune system physiology	6948	TCN2	ORPHA:859
HP:0010978	Abnormality of immune system physiology	7555	CNBP	OMIM:602668
HP:0010978	Abnormality of immune system physiology	60468	BACH2	OMIM:618394
HP:0010978	Abnormality of immune system physiology	5788	PTPRC	OMIM:619924
HP:0010978	Abnormality of immune system physiology	28956	LAMTOR2	OMIM:610798
HP:0010978	Abnormality of immune system physiology	7841	MOGS	ORPHA:79330
HP:0010978	Abnormality of immune system physiology	537	ATP6AP1	OMIM:300972
HP:0010978	Abnormality of immune system physiology	8792	TNFRSF11A	OMIM:612301
HP:0010978	Abnormality of immune system physiology	5426	POLE	OMIM:615139
HP:0010978	Abnormality of immune system physiology	5557	PRIM1	OMIM:620005
HP:0010978	Abnormality of immune system physiology	8838	CCN6	ORPHA:1159
HP:0010978	Abnormality of immune system physiology	6583	SLC22A4	OMIM:180300
HP:0010978	Abnormality of immune system physiology	51744	CD244	OMIM:180300
HP:0010978	Abnormality of immune system physiology	4795	NFKBIL1	OMIM:180300
HP:0010978	Abnormality of immune system physiology	1235	CCR6	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1235	CCR6	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	79932	KIAA0319L	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1490	CCN2	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1490	CCN2	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	29071	C1GALT1C1	OMIM:300622
HP:0010978	Abnormality of immune system physiology	208	AKT2	ORPHA:293964
HP:0010978	Abnormality of immune system physiology	3710	ITPR3	OMIM:222100
HP:0010978	Abnormality of immune system physiology	9652	SKIC3	ORPHA:84064
HP:0010978	Abnormality of immune system physiology	404672	GTF2H5	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	833	CARS1	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	7737	RNF113A	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	136647	MPLKIP	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	6897	TARS1	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	2961	GTF2E2	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	10999	SLC27A4	OMIM:608649
HP:0010978	Abnormality of immune system physiology	1369	CPN1	OMIM:212070
HP:0010978	Abnormality of immune system physiology	23387	SIK3	OMIM:618162
HP:0010978	Abnormality of immune system physiology	7941	PLA2G7	OMIM:147050
HP:0010978	Abnormality of immune system physiology	3566	IL4R	OMIM:147050
HP:0010978	Abnormality of immune system physiology	2206	MS4A2	OMIM:147050
HP:0010978	Abnormality of immune system physiology	1041	CDSN	ORPHA:90368
HP:0010978	Abnormality of immune system physiology	121391	KRT74	ORPHA:90368
HP:0010978	Abnormality of immune system physiology	5336	PLCG2	OMIM:614468
HP:0010978	Abnormality of immune system physiology	84701	COX4I2	OMIM:612714
HP:0010978	Abnormality of immune system physiology	3857	KRT9	OMIM:144200
HP:0010978	Abnormality of immune system physiology	2239	GPC4	ORPHA:373
HP:0010978	Abnormality of immune system physiology	2719	GPC3	ORPHA:373
HP:0010978	Abnormality of immune system physiology	595	CCND1	ORPHA:29073
HP:0010978	Abnormality of immune system physiology	22861	NLRP1	OMIM:617388
HP:0010978	Abnormality of immune system physiology	200942	KLHDC8B	OMIM:236000
HP:0010978	Abnormality of immune system physiology	1410	CRYAB	OMIM:608810
HP:0010978	Abnormality of immune system physiology	4313	MMP2	OMIM:259600
HP:0010978	Abnormality of immune system physiology	2706	GJB2	ORPHA:477
HP:0010978	Abnormality of immune system physiology	8913	CACNA1G	ORPHA:458803
HP:0010978	Abnormality of immune system physiology	3107	HLA-C	OMIM:177900
HP:0010978	Abnormality of immune system physiology	2625	GATA3	ORPHA:2237
HP:0010978	Abnormality of immune system physiology	130340	AP1S3	OMIM:616106
HP:0010978	Abnormality of immune system physiology	26525	IL36RN	OMIM:614204
HP:0010978	Abnormality of immune system physiology	3119	HLA-DQB1	ORPHA:703
HP:0010978	Abnormality of immune system physiology	3514	IGKC	ORPHA:183675
HP:0010978	Abnormality of immune system physiology	3501	IGHG2	ORPHA:183675
HP:0010978	Abnormality of immune system physiology	79092	CARD14	OMIM:602723
HP:0010978	Abnormality of immune system physiology	359948	IRF2BP2	OMIM:617765
HP:0010978	Abnormality of immune system physiology	55315	SLC29A3	ORPHA:168569
HP:0010978	Abnormality of immune system physiology	1828	DSG1	OMIM:615508
HP:0010978	Abnormality of immune system physiology	10159	ATP6AP2	OMIM:301045
HP:0010978	Abnormality of immune system physiology	83483	PLVAP	OMIM:618183
HP:0010978	Abnormality of immune system physiology	10111	RAD50	OMIM:613078
HP:0010978	Abnormality of immune system physiology	970	CD70	OMIM:618261
HP:0010978	Abnormality of immune system physiology	51095	TRNT1	OMIM:616084
HP:0010978	Abnormality of immune system physiology	6117	RPA1	OMIM:619767
HP:0010978	Abnormality of immune system physiology	1604	CD55	OMIM:226300
HP:0010978	Abnormality of immune system physiology	4796	TONSL	OMIM:271510
HP:0010978	Abnormality of immune system physiology	1457	CSNK2A1	OMIM:617062
HP:0010978	Abnormality of immune system physiology	55687	TRMU	OMIM:613070
HP:0010978	Abnormality of immune system physiology	8884	SLC5A6	OMIM:618973
HP:0010978	Abnormality of immune system physiology	1308	COL17A1	ORPHA:79406
HP:0010978	Abnormality of immune system physiology	26873	OPLAH	OMIM:260005
HP:0010978	Abnormality of immune system physiology	9636	ISG15	OMIM:616126
HP:0010978	Abnormality of immune system physiology	6789	STK4	OMIM:614868
HP:0010978	Abnormality of immune system physiology	90417	KNSTRN	ORPHA:221139
HP:0010978	Abnormality of immune system physiology	4173	MCM4	OMIM:609981
HP:0010978	Abnormality of immune system physiology	253959	RALGAPA1	OMIM:618797
HP:0010978	Abnormality of immune system physiology	7297	TYK2	OMIM:611521
HP:0010978	Abnormality of immune system physiology	3716	JAK1	OMIM:618999
HP:0010978	Abnormality of immune system physiology	79840	NHEJ1	ORPHA:169079
HP:0010978	Abnormality of immune system physiology	134218	DNAJC21	ORPHA:811
HP:0010978	Abnormality of immune system physiology	79631	EFL1	ORPHA:811
HP:0010978	Abnormality of immune system physiology	51119	SBDS	ORPHA:811
HP:0010978	Abnormality of immune system physiology	6729	SRP54	ORPHA:811
HP:0010978	Abnormality of immune system physiology	6729	SRP54	ORPHA:486
HP:0010978	Abnormality of immune system physiology	925	CD8A	OMIM:608957
HP:0010978	Abnormality of immune system physiology	57724	EPG5	OMIM:242840
HP:0010978	Abnormality of immune system physiology	84061	MAGT1	OMIM:300853
HP:0010978	Abnormality of immune system physiology	50619	DEF6	OMIM:619573
HP:0010978	Abnormality of immune system physiology	10379	IRF9	OMIM:618648
HP:0010978	Abnormality of immune system physiology	1503	CTPS1	OMIM:615897
HP:0010978	Abnormality of immune system physiology	6772	STAT1	OMIM:613796
HP:0010978	Abnormality of immune system physiology	6772	STAT1	OMIM:614892
HP:0010978	Abnormality of immune system physiology	686	BTD	ORPHA:79241
HP:0010978	Abnormality of immune system physiology	3431	SP110	ORPHA:79124
HP:0010978	Abnormality of immune system physiology	10312	TCIRG1	ORPHA:486
HP:0010978	Abnormality of immune system physiology	1991	ELANE	ORPHA:486
HP:0010978	Abnormality of immune system physiology	2672	GFI1	ORPHA:486
HP:0010978	Abnormality of immune system physiology	81570	CLPB	ORPHA:486
HP:0010978	Abnormality of immune system physiology	81704	DOCK8	OMIM:243700
HP:0010978	Abnormality of immune system physiology	81704	DOCK8	ORPHA:217390
HP:0010978	Abnormality of immune system physiology	2624	GATA2	OMIM:614172
HP:0010978	Abnormality of immune system physiology	2313	FLI1	OMIM:617443
HP:0010978	Abnormality of immune system physiology	10892	MALT1	OMIM:615468
HP:0010978	Abnormality of immune system physiology	10320	IKZF1	OMIM:616873
HP:0010978	Abnormality of immune system physiology	7535	ZAP70	ORPHA:911
HP:0010978	Abnormality of immune system physiology	3559	IL2RA	OMIM:606367
HP:0010978	Abnormality of immune system physiology	165918	RNF168	ORPHA:420741
HP:0010978	Abnormality of immune system physiology	2137	EXTL3	ORPHA:508533
HP:0010978	Abnormality of immune system physiology	2137	EXTL3	OMIM:617425
HP:0010978	Abnormality of immune system physiology	5896	RAG1	ORPHA:231154
HP:0010978	Abnormality of immune system physiology	5896	RAG1	OMIM:601457
HP:0010978	Abnormality of immune system physiology	5896	RAG1	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	4860	PNP	ORPHA:760
HP:0010978	Abnormality of immune system physiology	5897	RAG2	OMIM:601457
HP:0010978	Abnormality of immune system physiology	5897	RAG2	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	4522	MTHFD1	OMIM:617780
HP:0010978	Abnormality of immune system physiology	3718	JAK3	OMIM:600802
HP:0010978	Abnormality of immune system physiology	64919	BCL11B	OMIM:617237
HP:0010978	Abnormality of immune system physiology	5591	PRKDC	OMIM:615966
HP:0010978	Abnormality of immune system physiology	5238	PGM3	ORPHA:443811
HP:0010978	Abnormality of immune system physiology	7518	XRCC4	ORPHA:99812
HP:0010978	Abnormality of immune system physiology	3981	LIG4	ORPHA:99812
HP:0010978	Abnormality of immune system physiology	3981	LIG4	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	6023	RMRP	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	55636	CHD7	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	64421	DCLRE1C	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	64421	DCLRE1C	OMIM:602450
HP:0010978	Abnormality of immune system physiology	3575	IL7R	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	3575	IL7R	OMIM:608971
HP:0010978	Abnormality of immune system physiology	915	CD3D	OMIM:615617
HP:0010978	Abnormality of immune system physiology	204	AK2	ORPHA:33355
HP:0010978	Abnormality of immune system physiology	10747	MASP2	OMIM:613791
HP:0010978	Abnormality of immune system physiology	1776	DNASE1L3	ORPHA:36412
HP:0010978	Abnormality of immune system physiology	2584	GALK1	ORPHA:79237
HP:0010978	Abnormality of immune system physiology	695	BTK	ORPHA:47
HP:0010978	Abnormality of immune system physiology	695	BTK	OMIM:300755
HP:0010978	Abnormality of immune system physiology	30011	SH3KBP1	OMIM:300310
HP:0010978	Abnormality of immune system physiology	3551	IKBKB	OMIM:615592
HP:0010978	Abnormality of immune system physiology	57217	TTC7A	OMIM:243150
HP:0010978	Abnormality of immune system physiology	7922	SLC39A7	OMIM:619693
HP:0010978	Abnormality of immune system physiology	5295	PIK3R1	OMIM:615214
HP:0010978	Abnormality of immune system physiology	5295	PIK3R1	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	6929	TCF3	OMIM:616941
HP:0010978	Abnormality of immune system physiology	6929	TCF3	OMIM:619824
HP:0010978	Abnormality of immune system physiology	6929	TCF3	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	3507	IGHM	OMIM:601495
HP:0010978	Abnormality of immune system physiology	3507	IGHM	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	1678	TIMM8A	ORPHA:52368
HP:0010978	Abnormality of immune system physiology	3561	IL2RG	OMIM:300400
HP:0010978	Abnormality of immune system physiology	974	CD79B	OMIM:612692
HP:0010978	Abnormality of immune system physiology	974	CD79B	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	96459	FNIP1	OMIM:619705
HP:0010978	Abnormality of immune system physiology	6688	SPI1	OMIM:619707
HP:0010978	Abnormality of immune system physiology	973	CD79A	OMIM:613501
HP:0010978	Abnormality of immune system physiology	973	CD79A	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	3543	IGLL1	OMIM:613500
HP:0010978	Abnormality of immune system physiology	3543	IGLL1	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	3070	HELLS	OMIM:616911
HP:0010978	Abnormality of immune system physiology	84433	CARD11	OMIM:615206
HP:0010978	Abnormality of immune system physiology	83879	CDCA7	OMIM:616910
HP:0010978	Abnormality of immune system physiology	29760	BLNK	OMIM:613502
HP:0010978	Abnormality of immune system physiology	29760	BLNK	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	56262	LRRC8A	OMIM:613506
HP:0010978	Abnormality of immune system physiology	56262	LRRC8A	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	6651	SON	ORPHA:500150
HP:0010978	Abnormality of immune system physiology	732	C8B	OMIM:613789
HP:0010978	Abnormality of immune system physiology	731	C8A	OMIM:613790
HP:0010978	Abnormality of immune system physiology	3875	KRT18	OMIM:215600
HP:0010978	Abnormality of immune system physiology	8518	ELP1	OMIM:223900
HP:0010978	Abnormality of immune system physiology	57731	SPTBN4	OMIM:617519
HP:0010978	Abnormality of immune system physiology	4358	MPV17	OMIM:256810
HP:0010978	Abnormality of immune system physiology	4507	MTAP	OMIM:112250
HP:0010978	Abnormality of immune system physiology	2321	FLT1	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	219736	STOX1	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	10699	CORIN	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	716	C1S	OMIM:613783
HP:0010978	Abnormality of immune system physiology	80144	FRAS1	OMIM:219000
HP:0010978	Abnormality of immune system physiology	8456	FOXN1	OMIM:601705
HP:0010978	Abnormality of immune system physiology	641	BLM	ORPHA:125
HP:0010978	Abnormality of immune system physiology	81622	UNC93B1	OMIM:610551
HP:0010978	Abnormality of immune system physiology	9138	ARHGEF1	OMIM:618459
HP:0010978	Abnormality of immune system physiology	712	C1QA	OMIM:613652
HP:0010978	Abnormality of immune system physiology	3078	CFHR1	OMIM:235400
HP:0010978	Abnormality of immune system physiology	10878	CFHR3	OMIM:235400
HP:0010978	Abnormality of immune system physiology	51135	IRAK4	ORPHA:70592
HP:0010978	Abnormality of immune system physiology	10483	SEC23B	ORPHA:201
HP:0010978	Abnormality of immune system physiology	5728	PTEN	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6390	SDHB	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6392	SDHD	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6391	SDHC	ORPHA:201
HP:0010978	Abnormality of immune system physiology	207	AKT1	ORPHA:201
HP:0010978	Abnormality of immune system physiology	205717	USF3	ORPHA:201
HP:0010978	Abnormality of immune system physiology	5290	PIK3CA	ORPHA:201
HP:0010978	Abnormality of immune system physiology	100144748	KLLN	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6103	RPGR	OMIM:300455
HP:0010978	Abnormality of immune system physiology	6340	SCNN1G	ORPHA:60033
HP:0010978	Abnormality of immune system physiology	6338	SCNN1B	ORPHA:60033
HP:0010978	Abnormality of immune system physiology	730	C7	OMIM:610102
HP:0010978	Abnormality of immune system physiology	729	C6	OMIM:612446
HP:0010978	Abnormality of immune system physiology	4153	MBL2	OMIM:614372
HP:0010978	Abnormality of immune system physiology	629	CFB	OMIM:615561
HP:0010978	Abnormality of immune system physiology	841	CASP8	OMIM:607271
HP:0010978	Abnormality of immune system physiology	4247	MGAT2	ORPHA:79329
HP:0010978	Abnormality of immune system physiology	701	BUB1B	OMIM:257300
HP:0010978	Abnormality of immune system physiology	3075	CFH	OMIM:609814
HP:0010978	Abnormality of immune system physiology	3953	LEPR	ORPHA:179494
HP:0010978	Abnormality of immune system physiology	3952	LEP	ORPHA:66628
HP:0010978	Abnormality of immune system physiology	84823	LMNB2	OMIM:608709
HP:0010978	Abnormality of immune system physiology	84823	LMNB2	ORPHA:79087
HP:0010978	Abnormality of immune system physiology	55690	PACS1	ORPHA:329224
HP:0010978	Abnormality of immune system physiology	4179	CD46	OMIM:612922
HP:0010978	Abnormality of immune system physiology	7056	THBD	OMIM:612926
HP:0010978	Abnormality of immune system physiology	5199	CFP	OMIM:312060
HP:0010978	Abnormality of immune system physiology	23545	ATP6V0A2	ORPHA:2834
HP:0010978	Abnormality of immune system physiology	9993	DGCR2	OMIM:192430
HP:0010978	Abnormality of immune system physiology	8220	ESS2	OMIM:192430
HP:0010978	Abnormality of immune system physiology	8214	DGCR6	OMIM:192430
HP:0010978	Abnormality of immune system physiology	54487	DGCR8	OMIM:192430
HP:0010978	Abnormality of immune system physiology	4615	MYD88	ORPHA:33226
HP:0010978	Abnormality of immune system physiology	4615	MYD88	OMIM:153600
HP:0010978	Abnormality of immune system physiology	63929	XPNPEP3	OMIM:613159
HP:0010978	Abnormality of immune system physiology	2710	GK	OMIM:307030
HP:0010978	Abnormality of immune system physiology	4921	DDR2	OMIM:271665
HP:0010978	Abnormality of immune system physiology	3763	KCNJ6	ORPHA:435628
HP:0010978	Abnormality of immune system physiology	3763	KCNJ6	OMIM:614098
HP:0010978	Abnormality of immune system physiology	5351	PLOD1	OMIM:225400
HP:0010978	Abnormality of immune system physiology	5351	PLOD1	ORPHA:1900
HP:0010978	Abnormality of immune system physiology	6477	SIAH1	OMIM:619314
HP:0010978	Abnormality of immune system physiology	8425	LTBP4	OMIM:613177
HP:0010978	Abnormality of immune system physiology	11133	KPTN	OMIM:615637
HP:0010978	Abnormality of immune system physiology	11133	KPTN	ORPHA:397612
HP:0010978	Abnormality of immune system physiology	57539	WDR35	OMIM:613610
HP:0010978	Abnormality of immune system physiology	81857	MED25	OMIM:616449
HP:0010978	Abnormality of immune system physiology	81857	MED25	ORPHA:464738
HP:0010978	Abnormality of immune system physiology	755	CFAP410	OMIM:602271
HP:0010978	Abnormality of immune system physiology	126792	B3GALT6	OMIM:609465
HP:0010978	Abnormality of immune system physiology	1302	COL11A2	OMIM:215150
HP:0010978	Abnormality of immune system physiology	10157	AASS	ORPHA:2203
HP:0010978	Abnormality of immune system physiology	6904	TBCD	ORPHA:496641
HP:0010978	Abnormality of immune system physiology	54681	P4HTM	OMIM:618493
HP:0010978	Abnormality of immune system physiology	23594	ORC6	OMIM:613803
HP:0010978	Abnormality of immune system physiology	26040	SETBP1	ORPHA:798
HP:0010978	Abnormality of immune system physiology	2328	FMO3	OMIM:602079
HP:0010978	Abnormality of immune system physiology	2588	GALNS	OMIM:253000
HP:0010978	Abnormality of immune system physiology	51341	ZBTB7A	OMIM:619769
HP:0010978	Abnormality of immune system physiology	284119	CAVIN1	OMIM:613327
HP:0010978	Abnormality of immune system physiology	871	SERPINH1	OMIM:613848
HP:0010978	Abnormality of immune system physiology	55294	FBXW7	OMIM:620012
HP:0010978	Abnormality of immune system physiology	4233	MET	OMIM:114550
HP:0010978	Abnormality of immune system physiology	8312	AXIN1	OMIM:114550
HP:0010978	Abnormality of immune system physiology	5157	PDGFRL	OMIM:114550
HP:0010978	Abnormality of immune system physiology	3482	IGF2R	OMIM:114550
HP:0010978	Abnormality of immune system physiology	5573	PRKAR1A	ORPHA:615
HP:0010978	Abnormality of immune system physiology	5573	PRKAR1A	OMIM:255960
HP:0010978	Abnormality of immune system physiology	23592	LEMD3	ORPHA:166119
HP:0010978	Abnormality of immune system physiology	3689	ITGB2	OMIM:116920
HP:0010978	Abnormality of immune system physiology	727	C5	OMIM:609536
HP:0010978	Abnormality of immune system physiology	203859	ANO5	ORPHA:53697
HP:0010978	Abnormality of immune system physiology	8626	TP63	ORPHA:69085
HP:0010978	Abnormality of immune system physiology	1675	CFD	OMIM:613912
HP:0010978	Abnormality of immune system physiology	1314	COPA	OMIM:616414
HP:0010978	Abnormality of immune system physiology	64170	CARD9	OMIM:212050
HP:0010978	Abnormality of immune system physiology	84905	ZNF341	OMIM:618282
HP:0010978	Abnormality of immune system physiology	916	CD3E	ORPHA:169160
HP:0010978	Abnormality of immune system physiology	326	AIRE	OMIM:240300
HP:0010978	Abnormality of immune system physiology	7037	TFRC	OMIM:616740
HP:0010978	Abnormality of immune system physiology	6097	RORC	OMIM:616622
HP:0010978	Abnormality of immune system physiology	3932	LCK	OMIM:615758
HP:0010978	Abnormality of immune system physiology	23765	IL17RA	OMIM:613953
HP:0010978	Abnormality of immune system physiology	8546	AP3B1	OMIM:608233
HP:0010978	Abnormality of immune system physiology	51311	TLR8	OMIM:301078
HP:0010978	Abnormality of immune system physiology	9948	WDR1	OMIM:150550
HP:0010978	Abnormality of immune system physiology	28755	TRAC	OMIM:615387
HP:0010978	Abnormality of immune system physiology	11151	CORO1A	OMIM:615401
HP:0010978	Abnormality of immune system physiology	1794	DOCK2	OMIM:616433
HP:0010978	Abnormality of immune system physiology	10758	TRAF3IP2	OMIM:615527
HP:0010978	Abnormality of immune system physiology	917	CD3G	OMIM:615607
HP:0010978	Abnormality of immune system physiology	1777	DNASE2	OMIM:619858
HP:0010978	Abnormality of immune system physiology	5371	PML	ORPHA:520
HP:0010978	Abnormality of immune system physiology	5914	RARA	ORPHA:520
HP:0010978	Abnormality of immune system physiology	81608	FIP1L1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	64859	NABP1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	6777	STAT5B	ORPHA:520
HP:0010978	Abnormality of immune system physiology	4926	NUMA1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	7704	ZBTB16	ORPHA:520
HP:0010978	Abnormality of immune system physiology	79718	TBL1XR1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	2642	GCGR	ORPHA:438274
HP:0010978	Abnormality of immune system physiology	399	RHOH	OMIM:618307
HP:0010978	Abnormality of immune system physiology	55788	LMBRD1	OMIM:277380
HP:0010978	Abnormality of immune system physiology	55788	LMBRD1	ORPHA:79284
HP:0010978	Abnormality of immune system physiology	3557	IL1RN	OMIM:612852
HP:0010978	Abnormality of immune system physiology	25974	MMACHC	ORPHA:79282
HP:0010978	Abnormality of immune system physiology	3117	HLA-DQA1	OMIM:212750
HP:0010978	Abnormality of immune system physiology	8942	KYNU	ORPHA:79155
HP:0010978	Abnormality of immune system physiology	84876	ORAI1	OMIM:612782
HP:0010978	Abnormality of immune system physiology	6786	STIM1	OMIM:612783
HP:0010978	Abnormality of immune system physiology	940	CD28	ORPHA:3162
HP:0010978	Abnormality of immune system physiology	7133	TNFRSF1B	ORPHA:3162
HP:0010978	Abnormality of immune system physiology	213	ALB	ORPHA:86816
HP:0010978	Abnormality of immune system physiology	6440	SFTPC	OMIM:178500
HP:0010978	Abnormality of immune system physiology	727897	MUC5B	OMIM:178500
HP:0010978	Abnormality of immune system physiology	729238	SFTPA2	OMIM:178500
HP:0010978	Abnormality of immune system physiology	11311	VPS45	OMIM:615285
HP:0010978	Abnormality of immune system physiology	1277	COL1A1	ORPHA:1310
HP:0010978	Abnormality of immune system physiology	23064	SETX	OMIM:606002
HP:0010978	Abnormality of immune system physiology	950	SCARB2	ORPHA:77259
HP:0010978	Abnormality of immune system physiology	5144	PDE4D	ORPHA:950
HP:0010978	Abnormality of immune system physiology	9401	RECQL4	ORPHA:221016
HP:0010978	Abnormality of immune system physiology	134701	RIPPLY2	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	3955	LFNG	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	84667	HES7	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	7167	TPI1	ORPHA:868
HP:0010978	Abnormality of immune system physiology	10225	CD96	ORPHA:1308
HP:0010978	Abnormality of immune system physiology	6916	TBXAS1	ORPHA:1802
HP:0010978	Abnormality of immune system physiology	4693	NDP	ORPHA:649
HP:0010978	Abnormality of immune system physiology	3339	HSPG2	ORPHA:800
HP:0010978	Abnormality of immune system physiology	9184	BUB3	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	699	BUB1	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	9702	CEP57	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	9319	TRIP13	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	51002	TPRKB	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	84942	WDR73	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	55644	OSGEP	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	10785	WDR4	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	112858	TP53RK	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	8270	LAGE3	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	9723	SEMA3E	ORPHA:138
HP:0010978	Abnormality of immune system physiology	1053	CEBPE	OMIM:260570
HP:0010978	Abnormality of immune system physiology	54941	RNF125	OMIM:616260
HP:0010978	Abnormality of immune system physiology	54453	RIN2	OMIM:613075
HP:0010978	Abnormality of immune system physiology	148022	TICAM1	OMIM:614850
HP:0010978	Abnormality of immune system physiology	1289	COL5A1	OMIM:130000
HP:0010978	Abnormality of immune system physiology	1290	COL5A2	OMIM:130010
HP:0010978	Abnormality of immune system physiology	4194	MDM4	OMIM:618849
HP:0010978	Abnormality of immune system physiology	25790	CFAP45	OMIM:619608
HP:0010978	Abnormality of immune system physiology	718	C3	OMIM:613779
HP:0010978	Abnormality of immune system physiology	9663	LPIN2	OMIM:609628
HP:0010978	Abnormality of immune system physiology	9663	LPIN2	ORPHA:77297
HP:0010978	Abnormality of immune system physiology	22845	DOLK	OMIM:610768
HP:0010978	Abnormality of immune system physiology	2683	B4GALT1	ORPHA:79332
HP:0010978	Abnormality of immune system physiology	3141	HLCS	ORPHA:79242
HP:0010978	Abnormality of immune system physiology	55851	PSENEN	OMIM:613736
HP:0010978	Abnormality of immune system physiology	5663	PSEN1	OMIM:613737
HP:0010978	Abnormality of immune system physiology	3460	IFNGR2	OMIM:614889
HP:0010978	Abnormality of immune system physiology	84196	USP48	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	7157	TP53	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	9101	USP8	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	64072	CDH23	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	2908	NR3C1	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	673	BRAF	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	4072	EPCAM	ORPHA:92050
HP:0010978	Abnormality of immune system physiology	105371045	PERCC1	ORPHA:92050
HP:0010978	Abnormality of immune system physiology	65055	REEP1	OMIM:620011
HP:0010978	Abnormality of immune system physiology	5339	PLEC	ORPHA:254361
HP:0010978	Abnormality of immune system physiology	5832	ALDH18A1	ORPHA:90348
HP:0010978	Abnormality of immune system physiology	6890	TAP1	OMIM:604571
HP:0010978	Abnormality of immune system physiology	6891	TAP2	OMIM:604571
HP:0010978	Abnormality of immune system physiology	6892	TAPBP	OMIM:604571
HP:0010978	Abnormality of immune system physiology	4784	NFIX	OMIM:602535
HP:0010978	Abnormality of immune system physiology	9342	SNAP29	OMIM:609528
HP:0010978	Abnormality of immune system physiology	55791	LRIF1	OMIM:619477
HP:0010978	Abnormality of immune system physiology	54809	SAMD9	OMIM:617053
HP:0010978	Abnormality of immune system physiology	55037	PTCD3	OMIM:619057
HP:0010978	Abnormality of immune system physiology	10735	STAG2	ORPHA:220386
HP:0010978	Abnormality of immune system physiology	10735	STAG2	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:220386
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93926
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93924
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	6597	SMARCA4	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6598	SMARCB1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6659	SOX4	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	8289	ARID1A	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6601	SMARCC2	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6602	SMARCD1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	196528	ARID2	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6605	SMARCE1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6664	SOX11	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	8398	PLA2G6	ORPHA:35069
HP:0010978	Abnormality of immune system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0010978	Abnormality of immune system physiology	6872	TAF1	ORPHA:53351
HP:0010978	Abnormality of immune system physiology	526	ATP6V1B2	ORPHA:79500
HP:0010978	Abnormality of immune system physiology	57465	TBC1D24	ORPHA:79500
HP:0010978	Abnormality of immune system physiology	9896	FIG4	OMIM:216340
HP:0010978	Abnormality of immune system physiology	283446	MYO1H	OMIM:619482
HP:0010978	Abnormality of immune system physiology	80025	PANK2	ORPHA:216866
HP:0010978	Abnormality of immune system physiology	92935	MARS2	OMIM:616430
HP:0010978	Abnormality of immune system physiology	4700	NDUFA6	OMIM:618253
HP:0010978	Abnormality of immune system physiology	10342	TFG	ORPHA:90117
HP:0010978	Abnormality of immune system physiology	23007	PLCH1	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	5277	PIGA	OMIM:301072
HP:0010978	Abnormality of immune system physiology	2720	GLB1	ORPHA:79255
HP:0010978	Abnormality of immune system physiology	4001	LMNB1	ORPHA:99027
HP:0010978	Abnormality of immune system physiology	5813	PURA	ORPHA:314655
HP:0010978	Abnormality of immune system physiology	30009	TBX21	OMIM:208550
HP:0010978	Abnormality of immune system physiology	5732	PTGER2	OMIM:208550
HP:0010978	Abnormality of immune system physiology	9420	CYP7B1	OMIM:613812
HP:0010978	Abnormality of immune system physiology	9780	PIEZO1	OMIM:194380
HP:0010978	Abnormality of immune system physiology	23729	SHPK	ORPHA:440713
HP:0010978	Abnormality of immune system physiology	9095	TBX19	ORPHA:199296
HP:0010978	Abnormality of immune system physiology	1581	CYP7A1	ORPHA:209902
HP:0010978	Abnormality of immune system physiology	58484	NLRC4	OMIM:616050
HP:0010978	Abnormality of immune system physiology	23534	TNPO3	ORPHA:186
HP:0010978	Abnormality of immune system physiology	6689	SPIB	ORPHA:186
HP:0010978	Abnormality of immune system physiology	5450	POU2AF1	ORPHA:186
HP:0010978	Abnormality of immune system physiology	9966	TNFSF15	ORPHA:186
HP:0010978	Abnormality of immune system physiology	79258	MMEL1	ORPHA:186
HP:0010978	Abnormality of immune system physiology	3663	IRF5	ORPHA:186
HP:0010978	Abnormality of immune system physiology	545	ATR	OMIM:614564
HP:0010978	Abnormality of immune system physiology	3248	HPGD	ORPHA:217059
HP:0010978	Abnormality of immune system physiology	56244	BTNL2	OMIM:612387
HP:0010978	Abnormality of immune system physiology	56244	BTNL2	ORPHA:797
HP:0010978	Abnormality of immune system physiology	91662	NLRP12	OMIM:611762
HP:0010978	Abnormality of immune system physiology	4598	MVK	OMIM:610377
HP:0010978	Abnormality of immune system physiology	3661	IRF3	OMIM:616532
HP:0010978	Abnormality of immune system physiology	7187	TRAF3	OMIM:614849
HP:0010978	Abnormality of immune system physiology	677814	SNORA31	OMIM:619396
HP:0010978	Abnormality of immune system physiology	735	C9	OMIM:613825
HP:0010978	Abnormality of immune system physiology	7498	XDH	OMIM:278300
HP:0010978	Abnormality of immune system physiology	9333	TGM5	ORPHA:263534
HP:0010978	Abnormality of immune system physiology	1475	CSTA	ORPHA:263534
HP:0010978	Abnormality of immune system physiology	1105	CHD1	ORPHA:529965
HP:0010978	Abnormality of immune system physiology	6711	SPTBN1	OMIM:619475
HP:0010978	Abnormality of immune system physiology	51284	TLR7	OMIM:301080
HP:0010978	Abnormality of immune system physiology	56984	PSMG2	OMIM:619183
HP:0010978	Abnormality of immune system physiology	114803	MYSM1	ORPHA:508542
HP:0010978	Abnormality of immune system physiology	84868	HAVCR2	OMIM:618398
HP:0010978	Abnormality of immune system physiology	84868	HAVCR2	ORPHA:86884
HP:0010978	Abnormality of immune system physiology	90268	OTULIN	OMIM:617099
HP:0010978	Abnormality of immune system physiology	5692	PSMB4	OMIM:617591
HP:0010978	Abnormality of immune system physiology	5698	PSMB9	OMIM:617591
HP:0010978	Abnormality of immune system physiology	3832	KIF11	ORPHA:2526
HP:0010978	Abnormality of immune system physiology	92579	G6PC3	OMIM:612541
HP:0010978	Abnormality of immune system physiology	8517	IKBKG	OMIM:301081
HP:0010978	Abnormality of immune system physiology	10535	RNASEH2A	ORPHA:51
HP:0010978	Abnormality of immune system physiology	84153	RNASEH2C	ORPHA:51
HP:0010978	Abnormality of immune system physiology	25939	SAMHD1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	79621	RNASEH2B	ORPHA:51
HP:0010978	Abnormality of immune system physiology	103	ADAR	ORPHA:51
HP:0010978	Abnormality of immune system physiology	11277	TREX1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	100147744	RNU7-1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	134353	LSM11	ORPHA:51
HP:0010978	Abnormality of immune system physiology	64135	IFIH1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	55243	KIRREL1	OMIM:619201
HP:0010978	Abnormality of immune system physiology	25959	KANK2	OMIM:617783
HP:0010978	Abnormality of immune system physiology	6399	TRAPPC2	ORPHA:93284
HP:0010978	Abnormality of immune system physiology	22806	IKZF3	OMIM:619437
HP:0010978	Abnormality of immune system physiology	10625	IVNS1ABP	OMIM:618969
HP:0010978	Abnormality of immune system physiology	84888	SPPL2A	OMIM:619549
HP:0010978	Abnormality of immune system physiology	3454	IFNAR1	OMIM:619935
HP:0010978	Abnormality of immune system physiology	3455	IFNAR2	OMIM:616669
HP:0010978	Abnormality of immune system physiology	3872	KRT17	OMIM:167210
HP:0010978	Abnormality of immune system physiology	7156	TOP3A	OMIM:618097
HP:0010978	Abnormality of immune system physiology	8558	CDK10	OMIM:617694
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	OMIM:610582
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	OMIM:616329
HP:0010978	Abnormality of immune system physiology	1854	DUT	OMIM:620044
HP:0010978	Abnormality of immune system physiology	7128	TNFAIP3	OMIM:616744
HP:0010978	Abnormality of immune system physiology	51816	ADA2	OMIM:615688
HP:0010978	Abnormality of immune system physiology	6775	STAT4	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	6696	SPP1	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	3654	IRAK1	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	100	ADA	ORPHA:277
HP:0010978	Abnormality of immune system physiology	51371	POMP	OMIM:618048
HP:0010978	Abnormality of immune system physiology	4791	NFKB2	OMIM:615577
HP:0010978	Abnormality of immune system physiology	7253	TSHR	OMIM:609152
HP:0010978	Abnormality of immune system physiology	169792	GLIS3	OMIM:610199
HP:0010978	Abnormality of immune system physiology	7068	THRB	OMIM:274300
HP:0010978	Abnormality of immune system physiology	83737	ITCH	ORPHA:228426
HP:0010978	Abnormality of immune system physiology	94	ACVRL1	OMIM:600376
HP:0010978	Abnormality of immune system physiology	2022	ENG	OMIM:187300
HP:0010978	Abnormality of immune system physiology	8462	KLF11	ORPHA:552
HP:0010978	Abnormality of immune system physiology	2645	GCK	ORPHA:552
HP:0010978	Abnormality of immune system physiology	2645	GCK	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	26060	APPL1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	640	BLK	ORPHA:552
HP:0010978	Abnormality of immune system physiology	1056	CEL	ORPHA:552
HP:0010978	Abnormality of immune system physiology	4760	NEUROD1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3651	PDX1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3651	PDX1	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:552
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:79134
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	5078	PAX4	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3172	HNF4A	ORPHA:552
HP:0010978	Abnormality of immune system physiology	6927	HNF1A	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3630	INS	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3630	INS	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	811	CALR	ORPHA:824
HP:0010978	Abnormality of immune system physiology	4352	MPL	ORPHA:824
HP:0010978	Abnormality of immune system physiology	3717	JAK2	ORPHA:824
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:94089
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:79443
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:79444
HP:0010978	Abnormality of immune system physiology	8675	STX16	ORPHA:94089
HP:0010978	Abnormality of immune system physiology	7317	UBA1	OMIM:301054
HP:0010978	Abnormality of immune system physiology	79731	NARS2	ORPHA:79134
HP:0010978	Abnormality of immune system physiology	346171	ZFP57	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	57061	HYMAI	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	5325	PLAGL1	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	7252	TSHB	ORPHA:90674
HP:0010978	Abnormality of immune system physiology	3458	IFNG	ORPHA:88
HP:0010978	Abnormality of immune system physiology	1439	CSF2RB	ORPHA:264675
HP:0010978	Abnormality of immune system physiology	1438	CSF2RA	ORPHA:264675
HP:0010978	Abnormality of immune system physiology	7201	TRHR	ORPHA:99832
HP:0010978	Abnormality of immune system physiology	2903	GRIN2A	ORPHA:98818
HP:0010978	Abnormality of immune system physiology	617	BCS1L	OMIM:124000
HP:0010978	Abnormality of immune system physiology	1134	CHRNA1	OMIM:601462
HP:0010978	Abnormality of immune system physiology	1134	CHRNA1	OMIM:608930
HP:0010978	Abnormality of immune system physiology	5913	RAPSN	OMIM:616326
HP:0010978	Abnormality of immune system physiology	199857	ALG14	OMIM:616227
HP:0010978	Abnormality of immune system physiology	1140	CHRNB1	OMIM:616314
HP:0010978	Abnormality of immune system physiology	1140	CHRNB1	OMIM:616313
HP:0010978	Abnormality of immune system physiology	1145	CHRNE	OMIM:616324
HP:0010978	Abnormality of immune system physiology	1144	CHRND	OMIM:616323
HP:0010978	Abnormality of immune system physiology	9581	PREPL	OMIM:616224
HP:0010978	Abnormality of immune system physiology	8292	COLQ	OMIM:603034
HP:0010978	Abnormality of immune system physiology	285489	DOK7	OMIM:254300
HP:0010978	Abnormality of immune system physiology	8318	CDC45	OMIM:617063
HP:0010978	Abnormality of immune system physiology	3594	IL12RB1	ORPHA:319552
HP:0010978	Abnormality of immune system physiology	3560	IL2RB	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	79722	ANKRD55	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	26191	PTPN22	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	919	CD247	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	5771	PTPN2	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	5205	ATP8B1	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	8647	ABCB11	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	9971	NR1H4	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	5551	PRF1	ORPHA:540
HP:0010978	Abnormality of immune system physiology	8676	STX11	ORPHA:540
HP:0010978	Abnormality of immune system physiology	201294	UNC13D	ORPHA:540
HP:0010978	Abnormality of immune system physiology	6813	STXBP2	ORPHA:540
HP:0010978	Abnormality of immune system physiology	3162	HMOX1	OMIM:614034
HP:0010978	Abnormality of immune system physiology	3570	IL6R	OMIM:618944
HP:0010978	Abnormality of immune system physiology	5696	PSMB8	OMIM:256040
HP:0010978	Abnormality of immune system physiology	54440	SASH3	OMIM:301082
HP:0010978	Abnormality of immune system physiology	9076	CLDN1	OMIM:607626
HP:0010978	Abnormality of immune system physiology	5994	RFXAP	ORPHA:572
HP:0010978	Abnormality of immune system physiology	4261	CIITA	ORPHA:572
HP:0010978	Abnormality of immune system physiology	5993	RFX5	ORPHA:572
HP:0010978	Abnormality of immune system physiology	8625	RFXANK	ORPHA:572
HP:0010978	Abnormality of immune system physiology	5966	REL	OMIM:619652
HP:0010978	Abnormality of immune system physiology	5244	ABCB4	ORPHA:69663
HP:0010978	Abnormality of immune system physiology	51473	DCDC2	OMIM:617394
HP:0010978	Abnormality of immune system physiology	959	CD40LG	OMIM:308230
HP:0010978	Abnormality of immune system physiology	113220	KIF12	OMIM:619662
HP:0010978	Abnormality of immune system physiology	9842	PLEKHM1	ORPHA:210110
HP:0010978	Abnormality of immune system physiology	590	BCHE	ORPHA:132
HP:0010978	Abnormality of immune system physiology	6208	RPS14	ORPHA:86841
HP:0010978	Abnormality of immune system physiology	3939	LDHA	ORPHA:284426
HP:0010978	Abnormality of immune system physiology	57152	SLURP1	ORPHA:87503
HP:0010978	Abnormality of immune system physiology	54795	TRPM4	OMIM:618531
HP:0010978	Abnormality of immune system physiology	2248	FGF3	ORPHA:2791
HP:0010978	Abnormality of immune system physiology	55388	MCM10	OMIM:619313
HP:0010978	Abnormality of immune system physiology	55719	SLF2	OMIM:620184
HP:0010978	Abnormality of immune system physiology	56160	NSMCE3	OMIM:617241
HP:0010978	Abnormality of immune system physiology	3937	LCP2	OMIM:619374
HP:0010978	Abnormality of immune system physiology	5373	PMM2	ORPHA:79318
HP:0010978	Abnormality of immune system physiology	50485	SMARCAL1	ORPHA:1830
HP:0010978	Abnormality of immune system physiology	4000	LMNA	ORPHA:300751
HP:0010978	Abnormality of immune system physiology	135	ADORA2A	ORPHA:363549
HP:0010978	Abnormality of immune system physiology	53335	BCL11A	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	10661	KLF1	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	3047	HBG1	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	3048	HBG2	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	84342	COG8	OMIM:611182
HP:0010978	Abnormality of immune system physiology	440275	EIF2AK4	ORPHA:199241
HP:0010978	Abnormality of immune system physiology	27040	LAT	OMIM:617514
HP:0010978	Abnormality of immune system physiology	7174	TPP2	OMIM:619220
HP:0010978	Abnormality of immune system physiology	219972	MPEG1	OMIM:619223
HP:0010978	Abnormality of immune system physiology	57169	ZNFX1	OMIM:619644
HP:0010978	Abnormality of immune system physiology	6005	RHAG	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	6006	RHCE	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	6007	RHD	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	8547	FCN3	OMIM:613860
HP:0010978	Abnormality of immune system physiology	2271	FH	OMIM:606812
HP:0010978	Abnormality of immune system physiology	4629	MYH11	OMIM:619350
HP:0010978	Abnormality of immune system physiology	84992	PIGY	OMIM:616809
HP:0010978	Abnormality of immune system physiology	5422	POLA1	OMIM:301220
HP:0010978	Abnormality of immune system physiology	9051	PSTPIP1	OMIM:604416
HP:0010978	Abnormality of immune system physiology	8772	FADD	OMIM:613759
HP:0010978	Abnormality of immune system physiology	939	CD27	OMIM:615122
HP:0010978	Abnormality of immune system physiology	1499	CTNNB1	ORPHA:91414
HP:0010978	Abnormality of immune system physiology	51163	DBR1	OMIM:619441
HP:0010978	Abnormality of immune system physiology	5611	DNAJC3	OMIM:616192
HP:0010978	Abnormality of immune system physiology	710	SERPING1	OMIM:106100
HP:0010978	Abnormality of immune system physiology	3665	IRF7	OMIM:616345
HP:0010978	Abnormality of immune system physiology	3579	CXCR2	OMIM:619407
HP:0010978	Abnormality of immune system physiology	10621	POLR3F	OMIM:619872
HP:0010978	Abnormality of immune system physiology	5950	RBP4	OMIM:615147
HP:0010978	Abnormality of immune system physiology	23385	NCSTN	OMIM:142690
HP:0010978	Abnormality of immune system physiology	56983	POGLUT1	ORPHA:79145
HP:0010978	Abnormality of immune system physiology	23509	POFUT1	ORPHA:79145
HP:0010978	Abnormality of immune system physiology	2038	EPB42	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6521	SLC4A1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6710	SPTB	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6708	SPTA1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	286	ANK1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	84947	SERAC1	OMIM:614739
HP:0010978	Abnormality of immune system physiology	2070	EYA4	ORPHA:217622
HP:0010978	Abnormality of immune system physiology	857	CAV1	OMIM:606721
HP:0010978	Abnormality of immune system physiology	4558	MT-TF	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4572	MT-TQ	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4513	MT-CO2	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4578	MT-TW	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4540	MT-ND5	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4541	MT-ND6	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4535	MT-ND1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4538	MT-ND4	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4567	MT-TL1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4574	MT-TS1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4575	MT-TS2	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4564	MT-TH	ORPHA:550
HP:0010978	Abnormality of immune system physiology	1357	CPA1	ORPHA:676
HP:0010978	Abnormality of immune system physiology	27178	IL37	OMIM:619398
HP:0010978	Abnormality of immune system physiology	55765	INAVA	OMIM:618077
HP:0010978	Abnormality of immune system physiology	2984	GUCY2C	OMIM:614616
HP:0010978	Abnormality of immune system physiology	1001	CDH3	ORPHA:1573
HP:0010978	Abnormality of immune system physiology	9939	RBM8A	OMIM:274000
HP:0010978	Abnormality of immune system physiology	23149	FCHO1	OMIM:619164
HP:0010978	Abnormality of immune system physiology	7390	UROS	ORPHA:79277
HP:0010978	Abnormality of immune system physiology	2623	GATA1	ORPHA:79277
HP:0010978	Abnormality of immune system physiology	7389	UROD	ORPHA:95159
HP:0010978	Abnormality of immune system physiology	3105	HLA-A	ORPHA:179
HP:0010978	Abnormality of immune system physiology	2261	FGFR3	ORPHA:93262
HP:0010978	Abnormality of immune system physiology	224	ALDH3A2	ORPHA:816
HP:0010978	Abnormality of immune system physiology	3593	IL12B	ORPHA:3287
HP:0010978	Abnormality of immune system physiology	6945	MLX	ORPHA:3287
HP:0010978	Abnormality of immune system physiology	8314	BAP1	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	57105	CYSLTR2	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	2776	GNAQ	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	2767	GNA11	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	23451	SF3B1	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	114548	NLRP3	ORPHA:575
HP:0010978	Abnormality of immune system physiology	4914	NTRK1	ORPHA:642
HP:0010978	Abnormality of immune system physiology	3655	ITGA6	ORPHA:79403
HP:0010978	Abnormality of immune system physiology	3691	ITGB4	ORPHA:79403
HP:0010978	Abnormality of immune system physiology	825	CAPN3	OMIM:253600
HP:0010978	Abnormality of immune system physiology	3181	HNRNPA2B1	OMIM:615422
HP:0010978	Abnormality of immune system physiology	23175	LPIN1	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	4512	MT-CO1	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	4514	MT-CO3	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	3908	LAMA2	ORPHA:258
HP:0010978	Abnormality of immune system physiology	4221	MEN1	OMIM:131100
HP:0010978	Abnormality of immune system physiology	22900	CARD8	OMIM:619079
HP:0010978	Abnormality of immune system physiology	60684	TRAPPC11	OMIM:615356
HP:0010978	Abnormality of immune system physiology	3376	IARS1	ORPHA:541423
HP:0010978	Abnormality of immune system physiology	81031	SLC2A10	ORPHA:3342
HP:0010978	Abnormality of immune system physiology	9719	ADAMTSL2	ORPHA:1901
HP:0010978	Abnormality of immune system physiology	9509	ADAMTS2	ORPHA:1901
HP:0010978	Abnormality of immune system physiology	2887	GRB10	ORPHA:96182
HP:0010978	Abnormality of immune system physiology	2743	GLRB	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	2741	GLRA1	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	10243	GPHN	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	84896	ATAD1	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	9152	SLC6A5	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	5723	PSPH	ORPHA:79350
HP:0010978	Abnormality of immune system physiology	26227	PHGDH	ORPHA:79351
HP:0010978	Abnormality of immune system physiology	57623	ZFAT	OMIM:608175
HP:0010978	Abnormality of immune system physiology	7038	TG	OMIM:608175
HP:0010978	Abnormality of immune system physiology	7084	TK2	ORPHA:254886
HP:0010978	Abnormality of immune system physiology	9692	PRORP	OMIM:619737
HP:0010978	Abnormality of immune system physiology	8974	P4HA2	ORPHA:397
HP:0010978	Abnormality of immune system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0010978	Abnormality of immune system physiology	215	ABCD1	ORPHA:388
HP:0010978	Abnormality of immune system physiology	5979	RET	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2668	GDNF	ORPHA:388
HP:0010978	Abnormality of immune system physiology	6608	SMO	ORPHA:388
HP:0010978	Abnormality of immune system physiology	1889	ECE1	ORPHA:388
HP:0010978	Abnormality of immune system physiology	1908	EDN3	ORPHA:388
HP:0010978	Abnormality of immune system physiology	223117	SEMA3D	ORPHA:388
HP:0010978	Abnormality of immune system physiology	1910	EDNRB	ORPHA:388
HP:0010978	Abnormality of immune system physiology	10512	SEMA3C	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2064	ERBB2	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2065	ERBB3	ORPHA:388
HP:0010978	Abnormality of immune system physiology	4902	NRTN	ORPHA:388
HP:0010978	Abnormality of immune system physiology	3417	IDH1	ORPHA:99646
HP:0010978	Abnormality of immune system physiology	2592	GALT	ORPHA:79239
HP:0010978	Abnormality of immune system physiology	1351	COX8A	OMIM:619059
HP:0010978	Abnormality of immune system physiology	130589	GALM	ORPHA:570422
HP:0010978	Abnormality of immune system physiology	324	APC	ORPHA:873
HP:0010978	Abnormality of immune system physiology	10664	CTCF	ORPHA:363611
HP:0010978	Abnormality of immune system physiology	56052	ALG1	ORPHA:79327
HP:0010978	Abnormality of immune system physiology	25802	LMOD1	OMIM:619362
HP:0010978	Abnormality of immune system physiology	25802	LMOD1	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	4638	MYLK	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	8565	YARS1	OMIM:619418
HP:0010978	Abnormality of immune system physiology	5824	PEX19	OMIM:614886
HP:0010978	Abnormality of immune system physiology	11342	RNF13	ORPHA:544503
HP:0010978	Abnormality of immune system physiology	867	CBL	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	861	RUNX1	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	6427	SRSF2	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	1508	CTSB	ORPHA:50943
HP:0010978	Abnormality of immune system physiology	23600	AMACR	ORPHA:79095
HP:0010978	Abnormality of immune system physiology	23600	AMACR	OMIM:214950
HP:0010978	Abnormality of immune system physiology	80270	HSD3B7	OMIM:607765
HP:0010978	Abnormality of immune system physiology	63894	VIPAS39	OMIM:613404
HP:0010978	Abnormality of immune system physiology	26276	VPS33B	OMIM:208085
HP:0010978	Abnormality of immune system physiology	6718	AKR1D1	ORPHA:79303
HP:0010978	Abnormality of immune system physiology	2737	GLI3	ORPHA:672
HP:0010978	Abnormality of immune system physiology	29969	MDFIC	OMIM:620014
HP:0010978	Abnormality of immune system physiology	540	ATP7B	ORPHA:905
HP:0010978	Abnormality of immune system physiology	10166	SLC25A15	OMIM:238970
HP:0010978	Abnormality of immune system physiology	721	C4B	OMIM:614379
HP:0010978	Abnormality of immune system physiology	6499	SKIC2	OMIM:614602
HP:0010978	Abnormality of immune system physiology	5236	PGM1	OMIM:614921
HP:0010978	Abnormality of immune system physiology	3043	HBB	ORPHA:231226
HP:0010978	Abnormality of immune system physiology	55777	MBD5	OMIM:156200
HP:0010978	Abnormality of immune system physiology	1650	DDOST	ORPHA:300536
HP:0010978	Abnormality of immune system physiology	1650	DDOST	OMIM:614507
HP:0010978	Abnormality of immune system physiology	2273	FHL1	OMIM:300280
HP:0010978	Abnormality of immune system physiology	4088	SMAD3	OMIM:613795
HP:0010978	Abnormality of immune system physiology	7046	TGFBR1	OMIM:609192
HP:0010978	Abnormality of immune system physiology	7048	TGFBR2	OMIM:610168
HP:0010978	Abnormality of immune system physiology	7042	TGFB2	OMIM:614816
HP:0010978	Abnormality of immune system physiology	7043	TGFB3	OMIM:615582
HP:0010978	Abnormality of immune system physiology	6773	STAT2	OMIM:616636
HP:0010978	Abnormality of immune system physiology	55553	SOX6	OMIM:618971
HP:0010978	Abnormality of immune system physiology	816	CAMK2B	OMIM:617799
HP:0010978	Abnormality of immune system physiology	93587	TRMT10A	OMIM:616033
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3949	LDLR	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	213	ALB	OMIM:616000
HP:0010979	Abnormality of lipoprotein cholesterol concentration	336	APOA2	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2690	GHR	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0010979	Abnormality of lipoprotein cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2010	EMD	ORPHA:98863
HP:0010979	Abnormality of lipoprotein cholesterol concentration	20	ABCA2	OMIM:618808
HP:0010979	Abnormality of lipoprotein cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4040	LRP6	OMIM:610947
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4023	LPL	OMIM:144250
HP:0010979	Abnormality of lipoprotein cholesterol concentration	7274	TTPA	OMIM:277460
HP:0010979	Abnormality of lipoprotein cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	ORPHA:280365
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	OMIM:151660
HP:0010979	Abnormality of lipoprotein cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0010979	Abnormality of lipoprotein cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	OMIM:618463
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	OMIM:619836
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	ORPHA:425
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3988	LIPA	OMIM:278000
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	OMIM:604091
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	OMIM:205400
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	ORPHA:425
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10165	SLC25A13	ORPHA:247585
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10165	SLC25A13	OMIM:605814
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338	APOB	OMIM:615558
HP:0010979	Abnormality of lipoprotein cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4547	MTTP	ORPHA:14
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3931	LCAT	OMIM:245900
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3931	LCAT	OMIM:136120
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3931	LCAT	ORPHA:79292
HP:0010979	Abnormality of lipoprotein cholesterol concentration	5468	PPARG	OMIM:604367
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0010979	Abnormality of lipoprotein cholesterol concentration	116519	APOA5	OMIM:144650
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84984	CEP19	OMIM:615703
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0010979	Abnormality of lipoprotein cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0010979	Abnormality of lipoprotein cholesterol concentration	348	APOE	ORPHA:412
HP:0010979	Abnormality of lipoprotein cholesterol concentration	197131	UBR1	OMIM:243800
HP:0010979	Abnormality of lipoprotein cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0010979	Abnormality of lipoprotein cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0010979	Abnormality of lipoprotein cholesterol concentration	26119	LDLRAP1	OMIM:603813
HP:0010979	Abnormality of lipoprotein cholesterol concentration	345	APOC3	OMIM:614028
HP:0010979	Abnormality of lipoprotein cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0010979	Abnormality of lipoprotein cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0010979	Abnormality of lipoprotein cholesterol concentration	80025	PANK2	OMIM:607236
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0010979	Abnormality of lipoprotein cholesterol concentration	1071	CETP	ORPHA:79506
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3990	LIPC	OMIM:614025
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0010979	Abnormality of lipoprotein cholesterol concentration	344	APOC2	OMIM:207750
HP:0010979	Abnormality of lipoprotein cholesterol concentration	255738	PCSK9	OMIM:603776
HP:0010974	Abnormal myeloid leukocyte morphology	54888	NSUN2	ORPHA:235
HP:0010974	Abnormal myeloid leukocyte morphology	4615	MYD88	ORPHA:33226
HP:0010974	Abnormal myeloid leukocyte morphology	9015	TAF1A	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	5663	PSEN1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	6389	SDHA	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7112	TMPO	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	9464	HAND2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	4625	MYH7	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	88	ACTN2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	10486	CAP2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	10060	ABCC9	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7168	TPM1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7414	VCL	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	1832	DSP	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	70	ACTC1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	27063	ANKRD1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	8048	CSRP3	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	1410	CRYAB	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	4000	LMNA	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7139	TNNT2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	1829	DSG2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	3910	LAMA4	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	63976	PRDM16	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7273	TTN	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	10587	TXNRD2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	9531	BAG3	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	5350	PLN	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	91624	NEXN	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	79717	PPCS	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	5664	PSEN2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	4624	MYH6	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	9529	BAG5	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	4607	MYBPC3	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	282996	RBM20	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7137	TNNI3	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	11155	LDB3	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	2274	FHL2	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	22845	DOLK	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	5894	RAF1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	1756	DMD	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	57798	GATAD1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	7134	TNNC1	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	84665	MYPN	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	1674	DES	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	6444	SGCD	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	6331	SCN5A	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	2218	FKTN	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	8557	TCAP	ORPHA:154
HP:0010974	Abnormal myeloid leukocyte morphology	3106	HLA-B	ORPHA:36426
HP:0010974	Abnormal myeloid leukocyte morphology	10320	IKZF1	ORPHA:36426
HP:0010974	Abnormal myeloid leukocyte morphology	80169	CTC1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	26277	TINF2	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55651	NHP2	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	79650	USB1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55135	WRAP53	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	51750	RTEL1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	4869	NPM1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7012	TERC	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55505	NOP10	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	5073	PARN	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7015	TERT	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	1736	DKC1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7298	TYMS	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	3070	HELLS	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	83879	CDCA7	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	4689	NCF4	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	ORPHA:289916
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	OMIM:251000
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	ORPHA:79312
HP:0010974	Abnormal myeloid leukocyte morphology	695	BTK	OMIM:300755
HP:0010974	Abnormal myeloid leukocyte morphology	695	BTK	ORPHA:47
HP:0010974	Abnormal myeloid leukocyte morphology	26235	FBXL4	OMIM:615471
HP:0010974	Abnormal myeloid leukocyte morphology	54892	NCAPG2	OMIM:618460
HP:0010974	Abnormal myeloid leukocyte morphology	23241	PACS2	OMIM:618067
HP:0010974	Abnormal myeloid leukocyte morphology	6948	TCN2	OMIM:275350
HP:0010974	Abnormal myeloid leukocyte morphology	6948	TCN2	ORPHA:859
HP:0010974	Abnormal myeloid leukocyte morphology	6218	RPS17	OMIM:612527
HP:0010974	Abnormal myeloid leukocyte morphology	6218	RPS17	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	959	CD40LG	OMIM:308230
HP:0010974	Abnormal myeloid leukocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0010974	Abnormal myeloid leukocyte morphology	10559	SLC35A1	OMIM:603585
HP:0010974	Abnormal myeloid leukocyte morphology	54809	SAMD9	OMIM:619041
HP:0010974	Abnormal myeloid leukocyte morphology	114803	MYSM1	ORPHA:508542
HP:0010974	Abnormal myeloid leukocyte morphology	9948	WDR1	OMIM:150550
HP:0010974	Abnormal myeloid leukocyte morphology	2175	FANCA	OMIM:227650
HP:0010974	Abnormal myeloid leukocyte morphology	2120	ETV6	OMIM:616216
HP:0010974	Abnormal myeloid leukocyte morphology	55215	FANCI	OMIM:609053
HP:0010974	Abnormal myeloid leukocyte morphology	4552	MTRR	ORPHA:2169
HP:0010974	Abnormal myeloid leukocyte morphology	65082	VPS33A	OMIM:617303
HP:0010974	Abnormal myeloid leukocyte morphology	55788	LMBRD1	OMIM:277380
HP:0010974	Abnormal myeloid leukocyte morphology	55788	LMBRD1	ORPHA:79284
HP:0010974	Abnormal myeloid leukocyte morphology	973	CD79A	OMIM:613501
HP:0010974	Abnormal myeloid leukocyte morphology	973	CD79A	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	29760	BLNK	OMIM:613502
HP:0010974	Abnormal myeloid leukocyte morphology	29760	BLNK	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	9837	GINS1	OMIM:617827
HP:0010974	Abnormal myeloid leukocyte morphology	2122	MECOM	OMIM:616738
HP:0010974	Abnormal myeloid leukocyte morphology	8029	CUBN	ORPHA:35858
HP:0010974	Abnormal myeloid leukocyte morphology	81693	AMN	ORPHA:35858
HP:0010974	Abnormal myeloid leukocyte morphology	54	ACP5	OMIM:607944
HP:0010974	Abnormal myeloid leukocyte morphology	2530	FUT8	OMIM:618005
HP:0010974	Abnormal myeloid leukocyte morphology	7037	TFRC	OMIM:616740
HP:0010974	Abnormal myeloid leukocyte morphology	816	CAMK2B	OMIM:617799
HP:0010974	Abnormal myeloid leukocyte morphology	28956	LAMTOR2	ORPHA:90023
HP:0010974	Abnormal myeloid leukocyte morphology	28956	LAMTOR2	OMIM:610798
HP:0010974	Abnormal myeloid leukocyte morphology	8546	AP3B1	OMIM:608233
HP:0010974	Abnormal myeloid leukocyte morphology	157680	VPS13B	OMIM:216550
HP:0010974	Abnormal myeloid leukocyte morphology	157680	VPS13B	ORPHA:193
HP:0010974	Abnormal myeloid leukocyte morphology	5095	PCCA	OMIM:606054
HP:0010974	Abnormal myeloid leukocyte morphology	5096	PCCB	OMIM:606054
HP:0010974	Abnormal myeloid leukocyte morphology	112812	FDX2	OMIM:251900
HP:0010974	Abnormal myeloid leukocyte morphology	958	CD40	OMIM:606843
HP:0010974	Abnormal myeloid leukocyte morphology	2178	FANCE	OMIM:600901
HP:0010974	Abnormal myeloid leukocyte morphology	4478	MSN	OMIM:300988
HP:0010974	Abnormal myeloid leukocyte morphology	4700	NDUFA6	OMIM:618253
HP:0010974	Abnormal myeloid leukocyte morphology	175	AGA	OMIM:208400
HP:0010974	Abnormal myeloid leukocyte morphology	5826	ABCD4	OMIM:614857
HP:0010974	Abnormal myeloid leukocyte morphology	326625	MMAB	OMIM:251110
HP:0010974	Abnormal myeloid leukocyte morphology	2328	FMO3	OMIM:602079
HP:0010974	Abnormal myeloid leukocyte morphology	8943	AP3D1	OMIM:617050
HP:0010974	Abnormal myeloid leukocyte morphology	2623	GATA1	OMIM:300835
HP:0010974	Abnormal myeloid leukocyte morphology	2623	GATA1	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	29927	SEC61A1	OMIM:617056
HP:0010974	Abnormal myeloid leukocyte morphology	6135	RPL11	OMIM:612562
HP:0010974	Abnormal myeloid leukocyte morphology	6135	RPL11	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	9401	RECQL4	ORPHA:221016
HP:0010974	Abnormal myeloid leukocyte morphology	6201	RPS7	OMIM:612563
HP:0010974	Abnormal myeloid leukocyte morphology	6201	RPS7	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6154	RPL26	OMIM:614900
HP:0010974	Abnormal myeloid leukocyte morphology	6154	RPL26	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6789	STK4	OMIM:614868
HP:0010974	Abnormal myeloid leukocyte morphology	4796	TONSL	ORPHA:93357
HP:0010974	Abnormal myeloid leukocyte morphology	4796	TONSL	OMIM:271510
HP:0010974	Abnormal myeloid leukocyte morphology	7036	TFR2	OMIM:604250
HP:0010974	Abnormal myeloid leukocyte morphology	166785	MMAA	OMIM:251100
HP:0010974	Abnormal myeloid leukocyte morphology	3507	IGHM	OMIM:601495
HP:0010974	Abnormal myeloid leukocyte morphology	3507	IGHM	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	25839	COG4	OMIM:618150
HP:0010974	Abnormal myeloid leukocyte morphology	6141	RPL18	OMIM:618310
HP:0010974	Abnormal myeloid leukocyte morphology	6141	RPL18	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	150274	HSCB	OMIM:619523
HP:0010974	Abnormal myeloid leukocyte morphology	11311	VPS45	OMIM:615285
HP:0010974	Abnormal myeloid leukocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0010974	Abnormal myeloid leukocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0010974	Abnormal myeloid leukocyte morphology	57724	EPG5	OMIM:242840
HP:0010974	Abnormal myeloid leukocyte morphology	2937	GSS	OMIM:266130
HP:0010974	Abnormal myeloid leukocyte morphology	2177	FANCD2	OMIM:227646
HP:0010974	Abnormal myeloid leukocyte morphology	2176	FANCC	OMIM:227645
HP:0010974	Abnormal myeloid leukocyte morphology	2189	FANCG	OMIM:614082
HP:0010974	Abnormal myeloid leukocyte morphology	84522	JAGN1	OMIM:616022
HP:0010974	Abnormal myeloid leukocyte morphology	5295	PIK3R1	OMIM:615214
HP:0010974	Abnormal myeloid leukocyte morphology	5295	PIK3R1	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	4194	MDM4	OMIM:618849
HP:0010974	Abnormal myeloid leukocyte morphology	25974	MMACHC	ORPHA:79282
HP:0010974	Abnormal myeloid leukocyte morphology	25974	MMACHC	OMIM:277400
HP:0010974	Abnormal myeloid leukocyte morphology	51567	TDP2	OMIM:616949
HP:0010974	Abnormal myeloid leukocyte morphology	404672	GTF2H5	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	404672	GTF2H5	OMIM:616395
HP:0010974	Abnormal myeloid leukocyte morphology	833	CARS1	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2068	ERCC2	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	7737	RNF113A	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	6897	TARS1	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2071	ERCC3	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0010974	Abnormal myeloid leukocyte morphology	6223	RPS19	OMIM:105650
HP:0010974	Abnormal myeloid leukocyte morphology	6223	RPS19	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6138	RPL15	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6229	RPS24	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6125	RPL5	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6204	RPS10	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6224	RPS20	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6165	RPL35A	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6232	RPS27	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6231	RPS26	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	11224	RPL35	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6160	RPL31	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6155	RPL27	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6210	RPS15A	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	90121	TSR2	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6235	RPS29	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	51816	ADA2	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	5371	PML	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	5914	RARA	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	81608	FIP1L1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	54880	BCOR	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	64859	NABP1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	6777	STAT5B	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	4926	NUMA1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	7704	ZBTB16	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	10459	MAD2L2	OMIM:617243
HP:0010974	Abnormal myeloid leukocyte morphology	96459	FNIP1	OMIM:619705
HP:0010974	Abnormal myeloid leukocyte morphology	27429	HTRA2	OMIM:617248
HP:0010974	Abnormal myeloid leukocyte morphology	7319	UBE2A	ORPHA:163956
HP:0010974	Abnormal myeloid leukocyte morphology	55294	FBXW7	OMIM:620012
HP:0010974	Abnormal myeloid leukocyte morphology	5052	PRDX1	OMIM:277400
HP:0010974	Abnormal myeloid leukocyte morphology	10456	HAX1	OMIM:610738
HP:0010974	Abnormal myeloid leukocyte morphology	6929	TCF3	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	974	CD79B	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	3543	IGLL1	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	56262	LRRC8A	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0010974	Abnormal myeloid leukocyte morphology	7456	WIPF1	ORPHA:906
HP:0010974	Abnormal myeloid leukocyte morphology	7454	WAS	OMIM:301000
HP:0010974	Abnormal myeloid leukocyte morphology	30009	TBX21	OMIM:619630
HP:0010974	Abnormal myeloid leukocyte morphology	5159	PDGFRB	OMIM:131440
HP:0010974	Abnormal myeloid leukocyte morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0010974	Abnormal myeloid leukocyte morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010974	Abnormal myeloid leukocyte morphology	5156	PDGFRA	OMIM:607685
HP:0010974	Abnormal myeloid leukocyte morphology	6023	RMRP	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	55636	CHD7	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	3981	LIG4	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	OMIM:603554
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	ORPHA:331206
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	OMIM:603554
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	OMIM:602450
HP:0010974	Abnormal myeloid leukocyte morphology	100	ADA	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	100	ADA	OMIM:102700
HP:0010974	Abnormal myeloid leukocyte morphology	3575	IL7R	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	3575	IL7R	ORPHA:169154
HP:0010974	Abnormal myeloid leukocyte morphology	3561	IL2RG	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	825	CAPN3	OMIM:253600
HP:0010974	Abnormal myeloid leukocyte morphology	113235	SLC46A1	ORPHA:90045
HP:0010974	Abnormal myeloid leukocyte morphology	1041	CDSN	OMIM:270300
HP:0010974	Abnormal myeloid leukocyte morphology	8517	IKBKG	ORPHA:464
HP:0010974	Abnormal myeloid leukocyte morphology	8517	IKBKG	OMIM:308300
HP:0010974	Abnormal myeloid leukocyte morphology	6720	SREBF1	OMIM:158310
HP:0010974	Abnormal myeloid leukocyte morphology	3716	JAK1	OMIM:618999
HP:0010974	Abnormal myeloid leukocyte morphology	114548	NLRP3	OMIM:607115
HP:0010974	Abnormal myeloid leukocyte morphology	84905	ZNF341	OMIM:618282
HP:0010974	Abnormal myeloid leukocyte morphology	915	CD3D	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	916	CD3E	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	919	CD247	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	919	CD247	OMIM:610163
HP:0010974	Abnormal myeloid leukocyte morphology	10999	SLC27A4	ORPHA:88621
HP:0010974	Abnormal myeloid leukocyte morphology	64919	BCL11B	OMIM:617237
HP:0010974	Abnormal myeloid leukocyte morphology	64919	BCL11B	OMIM:618092
HP:0010974	Abnormal myeloid leukocyte morphology	3572	IL6ST	OMIM:618523
HP:0010974	Abnormal myeloid leukocyte morphology	84433	CARD11	OMIM:617638
HP:0010974	Abnormal myeloid leukocyte morphology	9939	RBM8A	OMIM:274000
HP:0010974	Abnormal myeloid leukocyte morphology	81704	DOCK8	OMIM:243700
HP:0010974	Abnormal myeloid leukocyte morphology	7535	ZAP70	ORPHA:911
HP:0010974	Abnormal myeloid leukocyte morphology	56244	BTNL2	ORPHA:797
HP:0010974	Abnormal myeloid leukocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0010974	Abnormal myeloid leukocyte morphology	5896	RAG1	ORPHA:231154
HP:0010974	Abnormal myeloid leukocyte morphology	2215	FCGR3B	ORPHA:464370
HP:0010974	Abnormal myeloid leukocyte morphology	355	FAS	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	355	FAS	OMIM:601859
HP:0010974	Abnormal myeloid leukocyte morphology	356	FASLG	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	356	FASLG	OMIM:601859
HP:0010974	Abnormal myeloid leukocyte morphology	5580	PRKCD	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	843	CASP10	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	843	CASP10	OMIM:603909
HP:0010974	Abnormal myeloid leukocyte morphology	10125	RASGRP1	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	5994	RFXAP	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	4261	CIITA	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	5993	RFX5	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	8625	RFXANK	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	6772	STAT1	ORPHA:391487
HP:0010974	Abnormal myeloid leukocyte morphology	10043	TOM1	ORPHA:391487
HP:0010974	Abnormal myeloid leukocyte morphology	7174	TPP2	OMIM:619220
HP:0010974	Abnormal myeloid leukocyte morphology	6774	STAT3	OMIM:615952
HP:0010974	Abnormal myeloid leukocyte morphology	50943	FOXP3	ORPHA:37042
HP:0010974	Abnormal myeloid leukocyte morphology	4860	PNP	OMIM:613179
HP:0010974	Abnormal myeloid leukocyte morphology	5238	PGM3	ORPHA:443811
HP:0010974	Abnormal myeloid leukocyte morphology	54440	SASH3	OMIM:301082
HP:0010974	Abnormal myeloid leukocyte morphology	83737	ITCH	ORPHA:228426
HP:0010974	Abnormal myeloid leukocyte morphology	29851	ICOS	OMIM:607594
HP:0010974	Abnormal myeloid leukocyte morphology	51099	ABHD5	ORPHA:98907
HP:0010974	Abnormal myeloid leukocyte morphology	613	BCR	ORPHA:521
HP:0010974	Abnormal myeloid leukocyte morphology	25	ABL1	ORPHA:521
HP:0010974	Abnormal myeloid leukocyte morphology	6234	RPS28	OMIM:606164
HP:0010974	Abnormal myeloid leukocyte morphology	6609	SMPD1	OMIM:607616
HP:0010974	Abnormal myeloid leukocyte morphology	6609	SMPD1	OMIM:257200
HP:0010974	Abnormal myeloid leukocyte morphology	10577	NPC2	OMIM:607625
HP:0010974	Abnormal myeloid leukocyte morphology	2720	GLB1	OMIM:230600
HP:0010974	Abnormal myeloid leukocyte morphology	348	APOE	ORPHA:158029
HP:0010974	Abnormal myeloid leukocyte morphology	348	APOE	OMIM:269600
HP:0010974	Abnormal myeloid leukocyte morphology	4864	NPC1	OMIM:257220
HP:0010974	Abnormal myeloid leukocyte morphology	1493	CTLA4	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	26191	PTPN22	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	3115	HLA-DPB1	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	5657	PRTN3	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	3113	HLA-DPA1	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	4688	NCF2	OMIM:233710
HP:0010974	Abnormal myeloid leukocyte morphology	79415	CYBC1	OMIM:618935
HP:0010974	Abnormal myeloid leukocyte morphology	1536	CYBB	OMIM:306400
HP:0010974	Abnormal myeloid leukocyte morphology	653361	NCF1	OMIM:233700
HP:0010974	Abnormal myeloid leukocyte morphology	84888	SPPL2A	OMIM:619549
HP:0010974	Abnormal myeloid leukocyte morphology	1535	CYBA	OMIM:233690
HP:0010974	Abnormal myeloid leukocyte morphology	6445	SGCG	ORPHA:353
HP:0010974	Abnormal myeloid leukocyte morphology	219285	SAMD9L	ORPHA:2585
HP:0010974	Abnormal myeloid leukocyte morphology	3988	LIPA	OMIM:278000
HP:0010974	Abnormal myeloid leukocyte morphology	3988	LIPA	ORPHA:75233
HP:0010974	Abnormal myeloid leukocyte morphology	4758	NEU1	OMIM:256550
HP:0010974	Abnormal myeloid leukocyte morphology	10841	FTCD	OMIM:229100
HP:0010974	Abnormal myeloid leukocyte morphology	119559	SFXN4	OMIM:615578
HP:0010974	Abnormal myeloid leukocyte morphology	6573	SLC19A1	OMIM:601775
HP:0010974	Abnormal myeloid leukocyte morphology	4522	MTHFD1	OMIM:617780
HP:0010974	Abnormal myeloid leukocyte morphology	204	AK2	OMIM:267500
HP:0010974	Abnormal myeloid leukocyte morphology	51594	NBAS	OMIM:614800
HP:0010974	Abnormal myeloid leukocyte morphology	3930	LBR	OMIM:169400
HP:0010974	Abnormal myeloid leukocyte morphology	3930	LBR	OMIM:618019
HP:0010974	Abnormal myeloid leukocyte morphology	23451	SF3B1	ORPHA:75564
HP:0010974	Abnormal myeloid leukocyte morphology	10430	TMEM147	OMIM:620075
HP:0010974	Abnormal myeloid leukocyte morphology	90268	OTULIN	OMIM:617099
HP:0010974	Abnormal myeloid leukocyte morphology	3394	IRF8	OMIM:226990
HP:0010974	Abnormal myeloid leukocyte morphology	4598	MVK	OMIM:260920
HP:0010974	Abnormal myeloid leukocyte morphology	26525	IL36RN	OMIM:614204
HP:0010974	Abnormal myeloid leukocyte morphology	4210	MEFV	ORPHA:3243
HP:0010974	Abnormal myeloid leukocyte morphology	4210	MEFV	OMIM:249100
HP:0010974	Abnormal myeloid leukocyte morphology	1441	CSF3R	OMIM:162830
HP:0010974	Abnormal myeloid leukocyte morphology	55343	SLC35C1	OMIM:266265
HP:0010974	Abnormal myeloid leukocyte morphology	55343	SLC35C1	ORPHA:99843
HP:0010974	Abnormal myeloid leukocyte morphology	5293	PIK3CD	OMIM:619281
HP:0010974	Abnormal myeloid leukocyte morphology	57169	ZNFX1	OMIM:619644
HP:0010974	Abnormal myeloid leukocyte morphology	5971	RELB	OMIM:617585
HP:0010974	Abnormal myeloid leukocyte morphology	3557	IL1RN	OMIM:612852
HP:0010974	Abnormal myeloid leukocyte morphology	5880	RAC2	OMIM:608203
HP:0010974	Abnormal myeloid leukocyte morphology	7187	TRAF3	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	81622	UNC93B1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	148022	TICAM1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	7098	TLR3	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	29110	TBK1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	7852	CXCR4	ORPHA:51636
HP:0010974	Abnormal myeloid leukocyte morphology	6208	RPS14	ORPHA:86841
HP:0010974	Abnormal myeloid leukocyte morphology	2821	GPI	OMIM:613470
HP:0010974	Abnormal myeloid leukocyte morphology	9056	SLC7A7	ORPHA:470
HP:0010974	Abnormal myeloid leukocyte morphology	9056	SLC7A7	OMIM:222700
HP:0010974	Abnormal myeloid leukocyte morphology	201294	UNC13D	OMIM:608898
HP:0010974	Abnormal myeloid leukocyte morphology	201294	UNC13D	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	5873	RAB27A	OMIM:607624
HP:0010974	Abnormal myeloid leukocyte morphology	5873	RAB27A	ORPHA:79477
HP:0010974	Abnormal myeloid leukocyte morphology	84868	HAVCR2	ORPHA:86884
HP:0010974	Abnormal myeloid leukocyte morphology	84868	HAVCR2	OMIM:618398
HP:0010974	Abnormal myeloid leukocyte morphology	3702	ITK	OMIM:613011
HP:0010974	Abnormal myeloid leukocyte morphology	331	XIAP	OMIM:300635
HP:0010974	Abnormal myeloid leukocyte morphology	331	XIAP	OMIM:308240
HP:0010974	Abnormal myeloid leukocyte morphology	1777	DNASE2	OMIM:619858
HP:0010974	Abnormal myeloid leukocyte morphology	3717	JAK2	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	10019	SH2B3	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	811	CALR	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	4352	MPL	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	3458	IFNG	OMIM:618963
HP:0010974	Abnormal myeloid leukocyte morphology	51311	TLR8	OMIM:301078
HP:0010974	Abnormal myeloid leukocyte morphology	1130	LYST	ORPHA:167
HP:0010974	Abnormal myeloid leukocyte morphology	1130	LYST	OMIM:214500
HP:0010974	Abnormal myeloid leukocyte morphology	5551	PRF1	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	5551	PRF1	OMIM:603553
HP:0010974	Abnormal myeloid leukocyte morphology	8676	STX11	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	8676	STX11	OMIM:603552
HP:0010974	Abnormal myeloid leukocyte morphology	6813	STXBP2	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	6813	STXBP2	OMIM:613101
HP:0010974	Abnormal myeloid leukocyte morphology	939	CD27	OMIM:615122
HP:0010974	Abnormal myeloid leukocyte morphology	5294	PIK3CG	OMIM:619802
HP:0010974	Abnormal myeloid leukocyte morphology	4068	SH2D1A	OMIM:308240
HP:0010974	Abnormal myeloid leukocyte morphology	10312	TCIRG1	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	1991	ELANE	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	1991	ELANE	OMIM:202700
HP:0010974	Abnormal myeloid leukocyte morphology	2672	GFI1	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	2672	GFI1	OMIM:613107
HP:0010974	Abnormal myeloid leukocyte morphology	6729	SRP54	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	81570	CLPB	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	92579	G6PC3	OMIM:612541
HP:0010974	Abnormal myeloid leukocyte morphology	3551	IKBKB	OMIM:615592
HP:0010974	Abnormal myeloid leukocyte morphology	3845	KRAS	OMIM:614470
HP:0010974	Abnormal myeloid leukocyte morphology	4893	NRAS	OMIM:614470
HP:0010974	Abnormal myeloid leukocyte morphology	51428	DDX41	OMIM:616871
HP:0010974	Abnormal myeloid leukocyte morphology	2624	GATA2	OMIM:614172
HP:0010974	Abnormal myeloid leukocyte morphology	1053	CEBPE	OMIM:245480
HP:0010974	Abnormal myeloid leukocyte morphology	6603	SMARCD2	OMIM:617475
HP:0010974	Abnormal myeloid leukocyte morphology	60468	BACH2	OMIM:618394
HP:0010974	Abnormal myeloid leukocyte morphology	84196	USP48	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	7157	TP53	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	9101	USP8	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	64072	CDH23	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	2908	NR3C1	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	673	BRAF	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	546	ATRX	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	29775	CARD10	OMIM:619632
HP:0010974	Abnormal myeloid leukocyte morphology	2137	EXTL3	ORPHA:508533
HP:0010974	Abnormal myeloid leukocyte morphology	11005	SPINK5	OMIM:256500
HP:0010974	Abnormal myeloid leukocyte morphology	64170	CARD9	OMIM:212050
HP:0010974	Abnormal myeloid leukocyte morphology	10526	IPO8	OMIM:619472
HP:0010974	Abnormal myeloid leukocyte morphology	28755	TRAC	OMIM:615387
HP:0010974	Abnormal myeloid leukocyte morphology	22861	NLRP1	OMIM:617388
HP:0010974	Abnormal myeloid leukocyte morphology	8288	EPX	OMIM:261500
HP:0010974	Abnormal myeloid leukocyte morphology	427	ASAH1	OMIM:228000
HP:0010974	Abnormal myeloid leukocyte morphology	4627	MYH9	OMIM:155100
HP:0010974	Abnormal myeloid leukocyte morphology	5373	PMM2	ORPHA:79318
HP:0010974	Abnormal myeloid leukocyte morphology	3937	LCP2	OMIM:619374
HP:0010974	Abnormal myeloid leukocyte morphology	6901	TAFAZZIN	OMIM:302060
HP:0010974	Abnormal myeloid leukocyte morphology	340665	CYP26C1	ORPHA:398189
HP:0010974	Abnormal myeloid leukocyte morphology	171023	ASXL1	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	171023	ASXL1	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	54790	TET2	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	54790	TET2	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	867	CBL	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	861	RUNX1	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	6427	SRSF2	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	6427	SRSF2	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	3815	KIT	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	3459	IFNGR1	OMIM:209950
HP:0010974	Abnormal myeloid leukocyte morphology	55315	SLC29A3	OMIM:602782
HP:0010974	Abnormal myeloid leukocyte morphology	55315	SLC29A3	ORPHA:168569
HP:0010974	Abnormal myeloid leukocyte morphology	2859	GPR35	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	10507	SEMA4D	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	4485	MST1	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	6925	TCF4	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	3579	CXCR2	OMIM:619407
HP:0010974	Abnormal myeloid leukocyte morphology	987	LRBA	OMIM:614700
HP:0010974	Abnormal myeloid leukocyte morphology	51645	PPIL1	OMIM:619301
HP:0010974	Abnormal myeloid leukocyte morphology	51362	CDC40	OMIM:619302
HP:0010974	Abnormal myeloid leukocyte morphology	2542	SLC37A4	ORPHA:79259
HP:0010974	Abnormal myeloid leukocyte morphology	9158	FIBP	OMIM:617107
HP:0010974	Abnormal myeloid leukocyte morphology	9158	FIBP	ORPHA:500095
HP:0010974	Abnormal myeloid leukocyte morphology	6688	SPI1	OMIM:619707
HP:0010974	Abnormal myeloid leukocyte morphology	51135	IRAK4	OMIM:607676
HP:0010974	Abnormal myeloid leukocyte morphology	134218	DNAJC21	ORPHA:811
HP:0010974	Abnormal myeloid leukocyte morphology	79631	EFL1	ORPHA:811
HP:0010974	Abnormal myeloid leukocyte morphology	51119	SBDS	ORPHA:811
HP:0007915	Polymorphous posterior corneal dystrophy	58495	OVOL2	OMIM:122000
HP:0007917	Tractional retinal detachment	1462	VCAN	OMIM:143200
HP:0007917	Tractional retinal detachment	23554	TSPAN12	OMIM:613310
HP:0007917	Tractional retinal detachment	23554	TSPAN12	ORPHA:891
HP:0007917	Tractional retinal detachment	79797	ZNF408	OMIM:616468
HP:0007917	Tractional retinal detachment	79797	ZNF408	ORPHA:891
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:891
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:90050
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:91495
HP:0007917	Tractional retinal detachment	1499	CTNNB1	ORPHA:891
HP:0007917	Tractional retinal detachment	4041	LRP5	ORPHA:891
HP:0007917	Tractional retinal detachment	4041	LRP5	ORPHA:90050
HP:0007917	Tractional retinal detachment	4041	LRP5	OMIM:601813
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:891
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:90050
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:91495
HP:0007917	Tractional retinal detachment	220202	ATOH7	ORPHA:91495
HP:0000769	Abnormality of the breast	668	FOXL2	OMIM:110100
HP:0000769	Abnormality of the breast	8450	CUL4B	OMIM:300354
HP:0000769	Abnormality of the breast	27125	AFF4	ORPHA:444077
HP:0000769	Abnormality of the breast	55315	SLC29A3	OMIM:602782
HP:0000769	Abnormality of the breast	55315	SLC29A3	ORPHA:168569
HP:0000769	Abnormality of the breast	56997	COQ8A	ORPHA:139485
HP:0000769	Abnormality of the breast	1528	CYB5A	ORPHA:90796
HP:0000769	Abnormality of the breast	1586	CYP17A1	ORPHA:90796
HP:0000769	Abnormality of the breast	1586	CYP17A1	ORPHA:90793
HP:0000769	Abnormality of the breast	1586	CYP17A1	OMIM:202110
HP:0000769	Abnormality of the breast	367	AR	ORPHA:90797
HP:0000769	Abnormality of the breast	367	AR	OMIM:300068
HP:0000769	Abnormality of the breast	367	AR	OMIM:312300
HP:0000769	Abnormality of the breast	367	AR	ORPHA:481
HP:0000769	Abnormality of the breast	367	AR	OMIM:313200
HP:0000769	Abnormality of the breast	79639	TMEM53	OMIM:619727
HP:0000769	Abnormality of the breast	1363	CPE	OMIM:619326
HP:0000769	Abnormality of the breast	3952	LEP	ORPHA:66628
HP:0000769	Abnormality of the breast	3952	LEP	OMIM:614962
HP:0000769	Abnormality of the breast	3284	HSD3B2	ORPHA:90791
HP:0000769	Abnormality of the breast	1584	CYP11B1	ORPHA:90795
HP:0000769	Abnormality of the breast	4204	MECP2	OMIM:300055
HP:0000769	Abnormality of the breast	1588	CYP19A1	OMIM:139300
HP:0000769	Abnormality of the breast	284654	RSPO1	OMIM:610644
HP:0000769	Abnormality of the breast	7840	ALMS1	OMIM:203800
HP:0000769	Abnormality of the breast	7840	ALMS1	ORPHA:64
HP:0000769	Abnormality of the breast	3248	HPGD	ORPHA:2796
HP:0000769	Abnormality of the breast	6578	SLCO2A1	ORPHA:2796
HP:0000769	Abnormality of the breast	1583	CYP11A1	ORPHA:289548
HP:0000769	Abnormality of the breast	1583	CYP11A1	ORPHA:168558
HP:0000769	Abnormality of the breast	3293	HSD17B3	OMIM:264300
HP:0000769	Abnormality of the breast	3293	HSD17B3	ORPHA:752
HP:0000769	Abnormality of the breast	9723	SEMA3E	OMIM:146110
HP:0000769	Abnormality of the breast	558	AXL	OMIM:146110
HP:0000769	Abnormality of the breast	10011	SRA1	OMIM:146110
HP:0000769	Abnormality of the breast	285025	CCDC141	OMIM:146110
HP:0000769	Abnormality of the breast	285025	CCDC141	ORPHA:478
HP:0000769	Abnormality of the breast	389549	FEZF1	OMIM:146110
HP:0000769	Abnormality of the breast	389549	FEZF1	ORPHA:478
HP:0000769	Abnormality of the breast	3953	LEPR	ORPHA:179494
HP:0000769	Abnormality of the breast	208	AKT2	OMIM:240900
HP:0000769	Abnormality of the breast	208	AKT2	ORPHA:293964
HP:0000769	Abnormality of the breast	6662	SOX9	ORPHA:251510
HP:0000769	Abnormality of the breast	6845	VAMP7	ORPHA:251510
HP:0000769	Abnormality of the breast	51741	WWOX	ORPHA:251510
HP:0000769	Abnormality of the breast	4214	MAP3K1	ORPHA:251510
HP:0000769	Abnormality of the breast	2516	NR5A1	ORPHA:251510
HP:0000769	Abnormality of the breast	7490	WT1	ORPHA:251510
HP:0000769	Abnormality of the breast	58524	DMRT3	ORPHA:251510
HP:0000769	Abnormality of the breast	57647	DHX37	ORPHA:251510
HP:0000769	Abnormality of the breast	23414	ZFPM2	ORPHA:251510
HP:0000769	Abnormality of the breast	190	NR0B1	ORPHA:251510
HP:0000769	Abnormality of the breast	1589	CYP21A2	OMIM:201910
HP:0000769	Abnormality of the breast	55131	RBM28	ORPHA:157954
HP:0000769	Abnormality of the breast	55131	RBM28	OMIM:612079
HP:0000769	Abnormality of the breast	23347	SMCHD1	ORPHA:2250
HP:0000769	Abnormality of the breast	285590	SH3PXD2B	ORPHA:137834
HP:0000769	Abnormality of the breast	11128	POLR3A	OMIM:264090
HP:0000769	Abnormality of the breast	11128	POLR3A	ORPHA:3455
HP:0000769	Abnormality of the breast	3675	ITGA3	OMIM:614748
HP:0000769	Abnormality of the breast	23137	SMC5	OMIM:620185
HP:0000769	Abnormality of the breast	26137	ZBTB20	OMIM:259050
HP:0000769	Abnormality of the breast	26137	ZBTB20	ORPHA:3042
HP:0000769	Abnormality of the breast	3972	LHB	OMIM:228300
HP:0000769	Abnormality of the breast	6942	TCF20	OMIM:618430
HP:0000769	Abnormality of the breast	81887	LAS1L	ORPHA:3459
HP:0000769	Abnormality of the breast	81887	LAS1L	OMIM:309585
HP:0000769	Abnormality of the breast	84295	PHF6	OMIM:301900
HP:0000769	Abnormality of the breast	84295	PHF6	ORPHA:127
HP:0000769	Abnormality of the breast	2332	FMR1	ORPHA:261483
HP:0000769	Abnormality of the breast	654	BMP6	ORPHA:465508
HP:0000769	Abnormality of the breast	3077	HFE	ORPHA:465508
HP:0000769	Abnormality of the breast	3730	ANOS1	OMIM:308700
HP:0000769	Abnormality of the breast	3730	ANOS1	ORPHA:478
HP:0000769	Abnormality of the breast	5696	PSMB8	OMIM:256040
HP:0000769	Abnormality of the breast	1674	DES	OMIM:181400
HP:0000769	Abnormality of the breast	10371	SEMA3A	ORPHA:478
HP:0000769	Abnormality of the breast	23767	FLRT3	ORPHA:478
HP:0000769	Abnormality of the breast	79625	NDNF	ORPHA:478
HP:0000769	Abnormality of the breast	1630	DCC	ORPHA:478
HP:0000769	Abnormality of the breast	54756	IL17RD	ORPHA:478
HP:0000769	Abnormality of the breast	6663	SOX10	ORPHA:478
HP:0000769	Abnormality of the breast	8820	HESX1	ORPHA:478
HP:0000769	Abnormality of the breast	23476	BRD4	ORPHA:199
HP:0000769	Abnormality of the breast	9126	SMC3	ORPHA:199
HP:0000769	Abnormality of the breast	8243	SMC1A	ORPHA:199
HP:0000769	Abnormality of the breast	25836	NIPBL	ORPHA:199
HP:0000769	Abnormality of the breast	25836	NIPBL	OMIM:122470
HP:0000769	Abnormality of the breast	55869	HDAC8	ORPHA:199
HP:0000769	Abnormality of the breast	5885	RAD21	ORPHA:199
HP:0000769	Abnormality of the breast	64840	PORCN	OMIM:305600
HP:0000769	Abnormality of the breast	57003	CCDC47	OMIM:618268
HP:0000769	Abnormality of the breast	23135	KDM6B	OMIM:618505
HP:0000769	Abnormality of the breast	8239	USP9X	ORPHA:480880
HP:0000769	Abnormality of the breast	5828	PEX2	OMIM:614866
HP:0000769	Abnormality of the breast	79796	ALG9	ORPHA:79328
HP:0000769	Abnormality of the breast	4247	MGAT2	ORPHA:79329
HP:0000769	Abnormality of the breast	197131	UBR1	OMIM:243800
HP:0000769	Abnormality of the breast	203068	TUBB	OMIM:156610
HP:0000769	Abnormality of the breast	388015	RTL1	ORPHA:96334
HP:0000769	Abnormality of the breast	8788	DLK1	ORPHA:96334
HP:0000769	Abnormality of the breast	55384	MEG3	ORPHA:96334
HP:0000769	Abnormality of the breast	6926	TBX3	ORPHA:3138
HP:0000769	Abnormality of the breast	6926	TBX3	OMIM:181450
HP:0000769	Abnormality of the breast	1146	CHRNG	OMIM:265000
HP:0000769	Abnormality of the breast	56992	KIF15	ORPHA:261323
HP:0000769	Abnormality of the breast	10020	GNE	OMIM:269921
HP:0000769	Abnormality of the breast	84168	ANTXR1	OMIM:230740
HP:0000769	Abnormality of the breast	7476	WNT7A	OMIM:276820
HP:0000769	Abnormality of the breast	3858	KRT10	OMIM:609165
HP:0000769	Abnormality of the breast	1954	MEGF8	OMIM:614976
HP:0000769	Abnormality of the breast	79633	FAT4	OMIM:615546
HP:0000769	Abnormality of the breast	8517	IKBKG	OMIM:308300
HP:0000769	Abnormality of the breast	26040	SETBP1	OMIM:269150
HP:0000769	Abnormality of the breast	9653	HS2ST1	OMIM:619194
HP:0000769	Abnormality of the breast	10771	ZMYND11	OMIM:616083
HP:0000769	Abnormality of the breast	8294	H4C9	OMIM:619951
HP:0000769	Abnormality of the breast	10765	KDM5B	OMIM:618109
HP:0000769	Abnormality of the breast	5648	MASP1	OMIM:257920
HP:0000769	Abnormality of the breast	5648	MASP1	ORPHA:293843
HP:0000769	Abnormality of the breast	10054	UBA2	OMIM:619959
HP:0000769	Abnormality of the breast	57514	ARHGAP31	OMIM:100300
HP:0000769	Abnormality of the breast	60	ACTB	ORPHA:64755
HP:0000769	Abnormality of the breast	4191	MDH2	OMIM:617339
HP:0000769	Abnormality of the breast	23028	KDM1A	OMIM:616728
HP:0000769	Abnormality of the breast	23028	KDM1A	ORPHA:477993
HP:0000769	Abnormality of the breast	9839	ZEB2	OMIM:235730
HP:0000769	Abnormality of the breast	6925	TCF4	ORPHA:2896
HP:0000769	Abnormality of the breast	6925	TCF4	OMIM:610954
HP:0000769	Abnormality of the breast	80816	ASXL3	OMIM:615485
HP:0000769	Abnormality of the breast	23112	TNRC6B	OMIM:619243
HP:0000769	Abnormality of the breast	10220	GDF11	OMIM:619122
HP:0000769	Abnormality of the breast	1723	DHODH	OMIM:263750
HP:0000769	Abnormality of the breast	1723	DHODH	ORPHA:246
HP:0000769	Abnormality of the breast	283489	CHAMP1	OMIM:616579
HP:0000769	Abnormality of the breast	150468	CKAP2L	ORPHA:3255
HP:0000769	Abnormality of the breast	4841	NONO	ORPHA:466791
HP:0000769	Abnormality of the breast	84992	PIGY	ORPHA:247262
HP:0000769	Abnormality of the breast	84720	PIGO	ORPHA:247262
HP:0000769	Abnormality of the breast	93210	PGAP3	ORPHA:247262
HP:0000769	Abnormality of the breast	284098	PIGW	ORPHA:247262
HP:0000769	Abnormality of the breast	27315	PGAP2	ORPHA:247262
HP:0000769	Abnormality of the breast	55650	PIGV	ORPHA:247262
HP:0000769	Abnormality of the breast	5528	PPP2R5D	ORPHA:457279
HP:0000769	Abnormality of the breast	10274	STAG1	OMIM:617635
HP:0000769	Abnormality of the breast	7021	TFAP2B	ORPHA:46627
HP:0000769	Abnormality of the breast	10584	COLEC10	ORPHA:293843
HP:0000769	Abnormality of the breast	78989	COLEC11	ORPHA:293843
HP:0000769	Abnormality of the breast	1000	CDH2	OMIM:618929
HP:0000769	Abnormality of the breast	54476	RNF216	ORPHA:1173
HP:0000769	Abnormality of the breast	10908	PNPLA6	ORPHA:1173
HP:0000769	Abnormality of the breast	8295	TRRAP	OMIM:618454
HP:0000769	Abnormality of the breast	1656	DDX6	OMIM:618653
HP:0000769	Abnormality of the breast	57728	WDR19	OMIM:614376
HP:0000769	Abnormality of the breast	3720	JARID2	OMIM:620098
HP:0000769	Abnormality of the breast	9896	FIG4	OMIM:216340
HP:0000769	Abnormality of the breast	1896	EDA	OMIM:305100
HP:0000769	Abnormality of the breast	8626	TP63	ORPHA:69085
HP:0000769	Abnormality of the breast	8626	TP63	ORPHA:978
HP:0000769	Abnormality of the breast	8626	TP63	OMIM:103285
HP:0000769	Abnormality of the breast	340419	RSPO2	OMIM:618021
HP:0000769	Abnormality of the breast	5792	PTPRF	OMIM:616001
HP:0000769	Abnormality of the breast	128178	EDARADD	OMIM:614940
HP:0000769	Abnormality of the breast	128178	EDARADD	OMIM:614941
HP:0000769	Abnormality of the breast	29957	SLC25A24	OMIM:612289
HP:0000769	Abnormality of the breast	117581	TWIST2	OMIM:209885
HP:0000769	Abnormality of the breast	1009	CDH11	ORPHA:1299
HP:0000769	Abnormality of the breast	8085	KMT2D	OMIM:620186
HP:0000769	Abnormality of the breast	9487	PIGL	OMIM:280000
HP:0000769	Abnormality of the breast	7994	KAT6A	OMIM:616268
HP:0000769	Abnormality of the breast	404672	GTF2H5	ORPHA:33364
HP:0000769	Abnormality of the breast	833	CARS1	ORPHA:33364
HP:0000769	Abnormality of the breast	2068	ERCC2	ORPHA:33364
HP:0000769	Abnormality of the breast	7737	RNF113A	ORPHA:33364
HP:0000769	Abnormality of the breast	136647	MPLKIP	ORPHA:33364
HP:0000769	Abnormality of the breast	6897	TARS1	ORPHA:33364
HP:0000769	Abnormality of the breast	2071	ERCC3	ORPHA:33364
HP:0000769	Abnormality of the breast	2961	GTF2E2	ORPHA:33364
HP:0000769	Abnormality of the breast	3020	H3-3A	OMIM:619720
HP:0000769	Abnormality of the breast	4292	MLH1	OMIM:158320
HP:0000769	Abnormality of the breast	4292	MLH1	ORPHA:587
HP:0000769	Abnormality of the breast	4436	MSH2	OMIM:158320
HP:0000769	Abnormality of the breast	4436	MSH2	ORPHA:587
HP:0000769	Abnormality of the breast	8313	AXIN2	OMIM:608615
HP:0000769	Abnormality of the breast	54894	RNF43	ORPHA:157798
HP:0000769	Abnormality of the breast	388662	SLC6A17	ORPHA:457212
HP:0000769	Abnormality of the breast	4913	NTHL1	ORPHA:454840
HP:0000769	Abnormality of the breast	4913	NTHL1	OMIM:616415
HP:0000769	Abnormality of the breast	7157	TP53	OMIM:151623
HP:0000769	Abnormality of the breast	7157	TP53	OMIM:114480
HP:0000769	Abnormality of the breast	7157	TP53	ORPHA:524
HP:0000769	Abnormality of the breast	7157	TP53	ORPHA:145
HP:0000769	Abnormality of the breast	7157	TP53	ORPHA:1333
HP:0000769	Abnormality of the breast	5889	RAD51C	OMIM:613399
HP:0000769	Abnormality of the breast	5889	RAD51C	ORPHA:145
HP:0000769	Abnormality of the breast	545	ATR	OMIM:614564
HP:0000769	Abnormality of the breast	999	CDH1	OMIM:167000
HP:0000769	Abnormality of the breast	999	CDH1	OMIM:114480
HP:0000769	Abnormality of the breast	5071	PRKN	OMIM:167000
HP:0000769	Abnormality of the breast	4978	OPCML	OMIM:167000
HP:0000769	Abnormality of the breast	207	AKT1	OMIM:167000
HP:0000769	Abnormality of the breast	207	AKT1	OMIM:114480
HP:0000769	Abnormality of the breast	207	AKT1	ORPHA:201
HP:0000769	Abnormality of the breast	207	AKT1	OMIM:615109
HP:0000769	Abnormality of the breast	2064	ERBB2	OMIM:167000
HP:0000769	Abnormality of the breast	5290	PIK3CA	OMIM:167000
HP:0000769	Abnormality of the breast	5290	PIK3CA	OMIM:114480
HP:0000769	Abnormality of the breast	5290	PIK3CA	ORPHA:201
HP:0000769	Abnormality of the breast	5290	PIK3CA	OMIM:615108
HP:0000769	Abnormality of the breast	1499	CTNNB1	OMIM:167000
HP:0000769	Abnormality of the breast	6794	STK11	OMIM:175200
HP:0000769	Abnormality of the breast	6794	STK11	ORPHA:2869
HP:0000769	Abnormality of the breast	83990	BRIP1	OMIM:114480
HP:0000769	Abnormality of the breast	83990	BRIP1	ORPHA:145
HP:0000769	Abnormality of the breast	5002	SLC22A18	OMIM:114480
HP:0000769	Abnormality of the breast	4835	NQO2	OMIM:114480
HP:0000769	Abnormality of the breast	5245	PHB1	OMIM:114480
HP:0000769	Abnormality of the breast	11200	CHEK2	OMIM:114480
HP:0000769	Abnormality of the breast	11200	CHEK2	ORPHA:524
HP:0000769	Abnormality of the breast	11200	CHEK2	OMIM:609265
HP:0000769	Abnormality of the breast	11200	CHEK2	ORPHA:145
HP:0000769	Abnormality of the breast	3161	HMMR	OMIM:114480
HP:0000769	Abnormality of the breast	580	BARD1	OMIM:114480
HP:0000769	Abnormality of the breast	580	BARD1	ORPHA:145
HP:0000769	Abnormality of the breast	672	BRCA1	OMIM:114480
HP:0000769	Abnormality of the breast	672	BRCA1	OMIM:604370
HP:0000769	Abnormality of the breast	672	BRCA1	ORPHA:145
HP:0000769	Abnormality of the breast	672	BRCA1	OMIM:617883
HP:0000769	Abnormality of the breast	672	BRCA1	ORPHA:1333
HP:0000769	Abnormality of the breast	675	BRCA2	OMIM:114480
HP:0000769	Abnormality of the breast	675	BRCA2	ORPHA:145
HP:0000769	Abnormality of the breast	675	BRCA2	ORPHA:1333
HP:0000769	Abnormality of the breast	675	BRCA2	OMIM:612555
HP:0000769	Abnormality of the breast	472	ATM	OMIM:114480
HP:0000769	Abnormality of the breast	8493	PPM1D	OMIM:114480
HP:0000769	Abnormality of the breast	79728	PALB2	OMIM:114480
HP:0000769	Abnormality of the breast	79728	PALB2	ORPHA:145
HP:0000769	Abnormality of the breast	79728	PALB2	ORPHA:1333
HP:0000769	Abnormality of the breast	5888	RAD51	OMIM:114480
HP:0000769	Abnormality of the breast	5888	RAD51	ORPHA:145
HP:0000769	Abnormality of the breast	7517	XRCC3	OMIM:114480
HP:0000769	Abnormality of the breast	9821	RB1CC1	OMIM:114480
HP:0000769	Abnormality of the breast	2099	ESR1	OMIM:114480
HP:0000769	Abnormality of the breast	841	CASP8	OMIM:114480
HP:0000769	Abnormality of the breast	8438	RAD54L	OMIM:114480
HP:0000769	Abnormality of the breast	324	APC	ORPHA:247806
HP:0000769	Abnormality of the breast	324	APC	ORPHA:79665
HP:0000769	Abnormality of the breast	324	APC	OMIM:135290
HP:0000769	Abnormality of the breast	4210	MEFV	ORPHA:3243
HP:0000769	Abnormality of the breast	5426	POLE	ORPHA:447877
HP:0000769	Abnormality of the breast	5424	POLD1	ORPHA:447877
HP:0000769	Abnormality of the breast	7486	WRN	ORPHA:902
HP:0000769	Abnormality of the breast	7373	COL14A1	ORPHA:79501
HP:0000769	Abnormality of the breast	79719	AAGAB	ORPHA:79501
HP:0000769	Abnormality of the breast	4193	MDM2	ORPHA:524
HP:0000769	Abnormality of the breast	5892	RAD51D	ORPHA:145
HP:0000769	Abnormality of the breast	10111	RAD50	ORPHA:145
HP:0000769	Abnormality of the breast	4683	NBN	ORPHA:145
HP:0000769	Abnormality of the breast	4361	MRE11	ORPHA:145
HP:0000769	Abnormality of the breast	2778	GNAS	ORPHA:562
HP:0000769	Abnormality of the breast	2956	MSH6	ORPHA:587
HP:0000769	Abnormality of the breast	10483	SEC23B	ORPHA:201
HP:0000769	Abnormality of the breast	10483	SEC23B	OMIM:616858
HP:0000769	Abnormality of the breast	6390	SDHB	ORPHA:201
HP:0000769	Abnormality of the breast	6392	SDHD	ORPHA:201
HP:0000769	Abnormality of the breast	6391	SDHC	ORPHA:201
HP:0000769	Abnormality of the breast	205717	USF3	ORPHA:201
HP:0000769	Abnormality of the breast	100144748	KLLN	ORPHA:201
HP:0000769	Abnormality of the breast	100144748	KLLN	OMIM:615107
HP:0000769	Abnormality of the breast	285282	RABL3	ORPHA:1333
HP:0000769	Abnormality of the breast	4089	SMAD4	ORPHA:1333
HP:0000769	Abnormality of the breast	23022	PALLD	ORPHA:1333
HP:0000769	Abnormality of the breast	7291	TWIST1	OMIM:101400
HP:0000769	Abnormality of the breast	2263	FGFR2	OMIM:101400
HP:0000769	Abnormality of the breast	3418	IDH2	ORPHA:163634
HP:0000769	Abnormality of the breast	1798	DPAGT1	ORPHA:86309
HP:0000769	Abnormality of the breast	1798	DPAGT1	OMIM:608093
HP:0000769	Abnormality of the breast	91949	COG7	OMIM:608779
HP:0000769	Abnormality of the breast	8504	PEX3	OMIM:617370
HP:0000769	Abnormality of the breast	11253	MAN1B1	ORPHA:397941
HP:0000769	Abnormality of the breast	11253	MAN1B1	OMIM:614202
HP:0000769	Abnormality of the breast	253738	EBF3	OMIM:617330
HP:0000769	Abnormality of the breast	51604	PIGT	OMIM:615398
HP:0000769	Abnormality of the breast	51604	PIGT	ORPHA:369837
HP:0000769	Abnormality of the breast	7355	SLC35A2	ORPHA:356961
HP:0000769	Abnormality of the breast	775	CACNA1C	OMIM:620029
HP:0000769	Abnormality of the breast	6418	SET	OMIM:618106
HP:0000769	Abnormality of the breast	3703	STT3A	OMIM:619714
HP:0000769	Abnormality of the breast	4784	NFIX	ORPHA:447980
HP:0000769	Abnormality of the breast	440138	ALG11	ORPHA:280071
HP:0000769	Abnormality of the breast	440138	ALG11	OMIM:613661
HP:0000769	Abnormality of the breast	29998	BICRA	OMIM:619325
HP:0000769	Abnormality of the breast	473	RERE	OMIM:616975
HP:0000769	Abnormality of the breast	79644	SRD5A3	OMIM:612379
HP:0000769	Abnormality of the breast	91869	RFT1	OMIM:612015
HP:0000769	Abnormality of the breast	91869	RFT1	ORPHA:244310
HP:0000769	Abnormality of the breast	2683	B4GALT1	ORPHA:79332
HP:0000769	Abnormality of the breast	51	ACOX1	OMIM:264470
HP:0000769	Abnormality of the breast	5373	PMM2	ORPHA:79318
HP:0000769	Abnormality of the breast	5373	PMM2	OMIM:212065
HP:0000769	Abnormality of the breast	85365	ALG2	OMIM:607906
HP:0000769	Abnormality of the breast	50619	DEF6	OMIM:619573
HP:0000769	Abnormality of the breast	91137	SLC25A46	OMIM:616505
HP:0000769	Abnormality of the breast	2146	EZH2	OMIM:277590
HP:0000769	Abnormality of the breast	9757	KMT2B	OMIM:619934
HP:0000769	Abnormality of the breast	51322	WAC	OMIM:616708
HP:0000769	Abnormality of the breast	51322	WAC	ORPHA:466950
HP:0000769	Abnormality of the breast	10195	ALG3	ORPHA:79321
HP:0000769	Abnormality of the breast	8813	DPM1	ORPHA:79322
HP:0000769	Abnormality of the breast	79087	ALG12	ORPHA:79324
HP:0000769	Abnormality of the breast	79087	ALG12	OMIM:607143
HP:0000769	Abnormality of the breast	79053	ALG8	ORPHA:79325
HP:0000769	Abnormality of the breast	55553	SOX6	OMIM:618971
HP:0000769	Abnormality of the breast	497661	C18orf32	OMIM:619985
HP:0000769	Abnormality of the breast	1822	ATN1	OMIM:618494
HP:0000769	Abnormality of the breast	7528	YY1	ORPHA:506358
HP:0000769	Abnormality of the breast	4094	MAF	ORPHA:1272
HP:0000769	Abnormality of the breast	4998	ORC1	OMIM:224690
HP:0000769	Abnormality of the breast	5000	ORC4	OMIM:613800
HP:0000769	Abnormality of the breast	25886	POC1A	OMIM:614813
HP:0000769	Abnormality of the breast	81620	CDT1	OMIM:613804
HP:0000769	Abnormality of the breast	23594	ORC6	OMIM:613803
HP:0000769	Abnormality of the breast	3643	INSR	ORPHA:508
HP:0000769	Abnormality of the breast	3643	INSR	OMIM:246200
HP:0000769	Abnormality of the breast	25782	RAB3GAP2	OMIM:212720
HP:0000769	Abnormality of the breast	3480	IGF1R	ORPHA:73273
HP:0000769	Abnormality of the breast	3480	IGF1R	OMIM:270450
HP:0000769	Abnormality of the breast	9949	AMMECR1	OMIM:300990
HP:0000769	Abnormality of the breast	2260	FGFR1	ORPHA:432
HP:0000769	Abnormality of the breast	81848	SPRY4	ORPHA:432
HP:0000769	Abnormality of the breast	128674	PROKR2	ORPHA:432
HP:0000769	Abnormality of the breast	2253	FGF8	ORPHA:432
HP:0000769	Abnormality of the breast	60675	PROK2	ORPHA:432
HP:0000769	Abnormality of the breast	55636	CHD7	ORPHA:432
HP:0000769	Abnormality of the breast	6870	TACR3	ORPHA:432
HP:0000769	Abnormality of the breast	1848	DUSP6	ORPHA:432
HP:0000769	Abnormality of the breast	26012	NSMF	ORPHA:432
HP:0000769	Abnormality of the breast	55717	WDR11	ORPHA:432
HP:0000769	Abnormality of the breast	9394	HS6ST1	ORPHA:432
HP:0000769	Abnormality of the breast	2796	GNRH1	ORPHA:432
HP:0000769	Abnormality of the breast	2798	GNRHR	ORPHA:432
HP:0000769	Abnormality of the breast	84634	KISS1R	ORPHA:432
HP:0000769	Abnormality of the breast	6866	TAC3	ORPHA:432
HP:0000769	Abnormality of the breast	8822	FGF17	ORPHA:432
HP:0000769	Abnormality of the breast	3814	KISS1	ORPHA:432
HP:0000769	Abnormality of the breast	55906	ZC4H2	OMIM:301041
HP:0000769	Abnormality of the breast	23394	ADNP	ORPHA:404448
HP:0000769	Abnormality of the breast	199857	ALG14	OMIM:619036
HP:0000769	Abnormality of the breast	341640	FREM2	ORPHA:2052
HP:0000769	Abnormality of the breast	80144	FRAS1	ORPHA:2052
HP:0000769	Abnormality of the breast	80144	FRAS1	OMIM:219000
HP:0000769	Abnormality of the breast	23426	GRIP1	ORPHA:2052
HP:0000769	Abnormality of the breast	26128	KIFBP	OMIM:609460
HP:0000769	Abnormality of the breast	9759	HDAC4	ORPHA:1001
HP:0000769	Abnormality of the breast	55627	SMPD4	OMIM:618622
HP:0000769	Abnormality of the breast	145173	B3GLCT	ORPHA:709
HP:0000769	Abnormality of the breast	145173	B3GLCT	OMIM:261540
HP:0000769	Abnormality of the breast	79848	CSPP1	ORPHA:397715
HP:0000769	Abnormality of the breast	9786	KIAA0586	ORPHA:397715
HP:0000769	Abnormality of the breast	7707	ZNF148	OMIM:617260
HP:0000769	Abnormality of the breast	1349	COX7B	OMIM:300887
HP:0000769	Abnormality of the breast	10300	KATNB1	OMIM:616212
HP:0000769	Abnormality of the breast	22858	CILK1	OMIM:612651
HP:0000769	Abnormality of the breast	55690	PACS1	OMIM:615009
HP:0000769	Abnormality of the breast	55690	PACS1	ORPHA:329224
HP:0000769	Abnormality of the breast	4081	MAB21L1	OMIM:618479
HP:0000769	Abnormality of the breast	10982	MAPRE2	OMIM:616734
HP:0000769	Abnormality of the breast	1717	DHCR7	ORPHA:818
HP:0000769	Abnormality of the breast	5818	NECTIN1	ORPHA:3253
HP:0000769	Abnormality of the breast	55780	ERMARD	ORPHA:75857
HP:0000769	Abnormality of the breast	79158	GNPTAB	OMIM:252500
HP:0000769	Abnormality of the breast	9382	COG1	OMIM:611209
HP:0000769	Abnormality of the breast	3417	IDH1	ORPHA:99646
HP:0000769	Abnormality of the breast	3190	HNRNPK	OMIM:616580
HP:0000769	Abnormality of the breast	55870	ASH1L	OMIM:617796
HP:0000769	Abnormality of the breast	9469	CHST3	OMIM:143095
HP:0000769	Abnormality of the breast	23511	NUP188	OMIM:618804
HP:0000769	Abnormality of the breast	2626	GATA4	ORPHA:251071
HP:0000769	Abnormality of the breast	7020	TFAP2A	OMIM:113620
HP:0000769	Abnormality of the breast	23116	TOGARAM1	OMIM:619185
HP:0000769	Abnormality of the breast	7319	UBE2A	OMIM:300860
HP:0000769	Abnormality of the breast	7319	UBE2A	ORPHA:163956
HP:0000769	Abnormality of the breast	10087	CERT1	OMIM:616351
HP:0000769	Abnormality of the breast	8726	EED	OMIM:617561
HP:0000769	Abnormality of the breast	22884	WDR37	OMIM:618652
HP:0000769	Abnormality of the breast	372	ARCN1	OMIM:617164
HP:0000769	Abnormality of the breast	2783	GNB2	OMIM:619503
HP:0000769	Abnormality of the breast	3930	LBR	OMIM:618019
HP:0000769	Abnormality of the breast	5826	ABCD4	OMIM:614857
HP:0000769	Abnormality of the breast	4763	NF1	ORPHA:97685
HP:0000769	Abnormality of the breast	79718	TBL1XR1	ORPHA:487825
HP:0000769	Abnormality of the breast	79718	TBL1XR1	OMIM:602342
HP:0000769	Abnormality of the breast	2074	ERCC6	OMIM:214150
HP:0000769	Abnormality of the breast	6611	SMS	ORPHA:3063
HP:0000769	Abnormality of the breast	6611	SMS	OMIM:309583
HP:0000769	Abnormality of the breast	22931	RAB18	OMIM:614222
HP:0000769	Abnormality of the breast	92609	TIMM50	OMIM:617698
HP:0000769	Abnormality of the breast	54499	TMCO1	OMIM:213980
HP:0000769	Abnormality of the breast	5293	PIK3CD	ORPHA:221139
HP:0000769	Abnormality of the breast	90417	KNSTRN	ORPHA:221139
HP:0000769	Abnormality of the breast	8936	WASF1	OMIM:618707
HP:0000769	Abnormality of the breast	6595	SMARCA2	ORPHA:3051
HP:0000769	Abnormality of the breast	8567	MADD	OMIM:619004
HP:0000769	Abnormality of the breast	91875	TTC5	OMIM:619244
HP:0000769	Abnormality of the breast	5500	PPP1CB	OMIM:617506
HP:0000769	Abnormality of the breast	9772	TMEM94	OMIM:618316
HP:0000769	Abnormality of the breast	79971	WLS	OMIM:619648
HP:0000769	Abnormality of the breast	673	BRAF	OMIM:613707
HP:0000769	Abnormality of the breast	673	BRAF	OMIM:163950
HP:0000769	Abnormality of the breast	3911	LAMA5	OMIM:620076
HP:0000769	Abnormality of the breast	139285	AMER1	OMIM:300373
HP:0000769	Abnormality of the breast	1376	CPT2	OMIM:608836
HP:0000769	Abnormality of the breast	84231	TRAF7	OMIM:618164
HP:0000769	Abnormality of the breast	200205	IBA57	OMIM:615330
HP:0000769	Abnormality of the breast	284058	KANSL1	OMIM:610443
HP:0000769	Abnormality of the breast	22800	RRAS2	ORPHA:648
HP:0000769	Abnormality of the breast	867	CBL	ORPHA:648
HP:0000769	Abnormality of the breast	867	CBL	OMIM:613563
HP:0000769	Abnormality of the breast	8216	LZTR1	ORPHA:648
HP:0000769	Abnormality of the breast	8216	LZTR1	OMIM:605275
HP:0000769	Abnormality of the breast	6016	RIT1	ORPHA:648
HP:0000769	Abnormality of the breast	6237	RRAS	ORPHA:648
HP:0000769	Abnormality of the breast	5894	RAF1	ORPHA:648
HP:0000769	Abnormality of the breast	22808	MRAS	ORPHA:648
HP:0000769	Abnormality of the breast	3845	KRAS	ORPHA:648
HP:0000769	Abnormality of the breast	200734	SPRED2	ORPHA:648
HP:0000769	Abnormality of the breast	4893	NRAS	ORPHA:648
HP:0000769	Abnormality of the breast	6654	SOS1	ORPHA:648
HP:0000769	Abnormality of the breast	6654	SOS1	OMIM:610733
HP:0000769	Abnormality of the breast	6655	SOS2	ORPHA:648
HP:0000769	Abnormality of the breast	5781	PTPN11	ORPHA:648
HP:0000769	Abnormality of the breast	5781	PTPN11	OMIM:163950
HP:0000769	Abnormality of the breast	5922	RASA2	ORPHA:648
HP:0000769	Abnormality of the breast	171023	ASXL1	OMIM:605039
HP:0000769	Abnormality of the breast	8621	CDK13	OMIM:617360
HP:0000769	Abnormality of the breast	54101	RIPK4	OMIM:263650
HP:0000769	Abnormality of the breast	9181	ARHGEF2	OMIM:617523
HP:0000769	Abnormality of the breast	29968	PSAT1	OMIM:616038
HP:0000769	Abnormality of the breast	6736	SRY	ORPHA:1772
HP:0000769	Abnormality of the breast	27152	INTU	OMIM:617925
HP:0000769	Abnormality of the breast	2719	GPC3	OMIM:312870
HP:0000769	Abnormality of the breast	2239	GPC4	OMIM:312870
HP:0000769	Abnormality of the breast	55770	EXOC2	OMIM:619306
HP:0000769	Abnormality of the breast	5604	MAP2K1	OMIM:163950
HP:0000769	Abnormality of the breast	9897	WASHC5	ORPHA:7
HP:0000769	Abnormality of the breast	28952	CCDC22	ORPHA:7
HP:0000769	Abnormality of the breast	284252	KCTD1	OMIM:181270
HP:0000769	Abnormality of the breast	284252	KCTD1	ORPHA:2036
HP:0000769	Abnormality of the breast	55697	VAC14	ORPHA:3472
HP:0000769	Abnormality of the breast	10815	CPLX1	ORPHA:280
HP:0000769	Abnormality of the breast	54872	PIGG	ORPHA:280
HP:0000769	Abnormality of the breast	7469	NELFA	ORPHA:280
HP:0000769	Abnormality of the breast	1487	CTBP1	ORPHA:280
HP:0000769	Abnormality of the breast	3954	LETM1	ORPHA:280
HP:0000769	Abnormality of the breast	7468	NSD2	ORPHA:280
HP:0000769	Abnormality of the breast	1947	EFNB1	ORPHA:1520
HP:0000769	Abnormality of the breast	23556	PIGN	ORPHA:2059
HP:0000769	Abnormality of the breast	7473	WNT3	ORPHA:3301
HP:0000769	Abnormality of the breast	29893	PSMC3IP	ORPHA:243
HP:0000769	Abnormality of the breast	171568	POLR3H	ORPHA:243
HP:0000769	Abnormality of the breast	125150	ZSWIM7	ORPHA:243
HP:0000769	Abnormality of the breast	9210	BMP15	ORPHA:243
HP:0000769	Abnormality of the breast	57122	NUP107	ORPHA:243
HP:0000769	Abnormality of the breast	23514	SPIDR	ORPHA:243
HP:0000769	Abnormality of the breast	2492	FSHR	ORPHA:243
HP:0000769	Abnormality of the breast	56945	MRPS22	ORPHA:243
HP:0000769	Abnormality of the breast	646	BNC1	ORPHA:243
HP:0000769	Abnormality of the breast	5626	PROP1	ORPHA:95494
HP:0000769	Abnormality of the breast	5626	PROP1	ORPHA:90695
HP:0000769	Abnormality of the breast	2736	GLI2	ORPHA:95494
HP:0000769	Abnormality of the breast	89884	LHX4	ORPHA:95494
HP:0000769	Abnormality of the breast	3170	FOXA2	ORPHA:95494
HP:0000769	Abnormality of the breast	5449	POU1F1	ORPHA:95494
HP:0000769	Abnormality of the breast	5015	OTX2	ORPHA:95494
HP:0000769	Abnormality of the breast	6658	SOX3	ORPHA:90695
HP:0000769	Abnormality of the breast	5566	PRKACA	ORPHA:189439
HP:0000769	Abnormality of the breast	8622	PDE8B	ORPHA:189439
HP:0000769	Abnormality of the breast	355	FAS	ORPHA:3261
HP:0000769	Abnormality of the breast	356	FASLG	ORPHA:3261
HP:0000769	Abnormality of the breast	5580	PRKCD	ORPHA:3261
HP:0000769	Abnormality of the breast	843	CASP10	ORPHA:3261
HP:0000769	Abnormality of the breast	10125	RASGRP1	ORPHA:3261
HP:0000769	Abnormality of the breast	2488	FSHB	ORPHA:52901
HP:0000769	Abnormality of the breast	51199	NIN	ORPHA:319675
HP:0000769	Abnormality of the breast	8930	MBD4	OMIM:619975
HP:0000769	Abnormality of the breast	5618	PRLR	OMIM:615555
HP:0000769	Abnormality of the breast	7403	KDM6A	OMIM:300867
HP:0000769	Abnormality of the breast	6711	SPTBN1	OMIM:619475
HP:0000769	Abnormality of the breast	641	BLM	ORPHA:125
HP:0000769	Abnormality of the breast	64218	SEMA4A	ORPHA:440437
HP:0000769	Abnormality of the breast	657	BMPR1A	ORPHA:440437
HP:0000769	Abnormality of the breast	6224	RPS20	ORPHA:440437
HP:0000769	Abnormality of the breast	65998	ZFTA	ORPHA:251636
HP:0000769	Abnormality of the breast	5970	RELA	ORPHA:251636
HP:0000769	Abnormality of the breast	8314	BAP1	ORPHA:618
HP:0000769	Abnormality of the breast	4286	MITF	ORPHA:618
HP:0000769	Abnormality of the breast	1019	CDK4	ORPHA:618
HP:0000769	Abnormality of the breast	4255	MGMT	ORPHA:618
HP:0000769	Abnormality of the breast	54386	TERF2IP	ORPHA:618
HP:0000769	Abnormality of the breast	4157	MC1R	ORPHA:618
HP:0000769	Abnormality of the breast	65057	ACD	ORPHA:618
HP:0000769	Abnormality of the breast	1029	CDKN2A	ORPHA:618
HP:0000769	Abnormality of the breast	7015	TERT	ORPHA:618
HP:0000769	Abnormality of the breast	25913	POT1	ORPHA:618
HP:0000769	Abnormality of the breast	1030	CDKN2B	ORPHA:618
HP:0000769	Abnormality of the breast	5728	PTEN	ORPHA:109
HP:0000769	Abnormality of the breast	5728	PTEN	ORPHA:137608
HP:0000769	Abnormality of the breast	4000	LMNA	ORPHA:79474
HP:0000769	Abnormality of the breast	5573	PRKAR1A	ORPHA:1359
HP:0000769	Abnormality of the breast	50940	PDE11A	ORPHA:1359
HP:0000769	Abnormality of the breast	5980	REV3L	ORPHA:570
HP:0000769	Abnormality of the breast	23129	PLXND1	ORPHA:570
HP:0000769	Abnormality of the breast	8318	CDC45	OMIM:617063
HP:0000769	Abnormality of the breast	8318	CDC45	ORPHA:2554
HP:0000769	Abnormality of the breast	1859	DYRK1A	ORPHA:268261
HP:0000769	Abnormality of the breast	10651	MTX2	ORPHA:90153
HP:0000769	Abnormality of the breast	990	CDC6	ORPHA:2554
HP:0000769	Abnormality of the breast	51053	GMNN	ORPHA:2554
HP:0000769	Abnormality of the breast	4221	MEN1	ORPHA:652
HP:0000769	Abnormality of the breast	4221	MEN1	ORPHA:2965
HP:0000769	Abnormality of the breast	4221	MEN1	ORPHA:99725
HP:0000769	Abnormality of the breast	1027	CDKN1B	ORPHA:652
HP:0000769	Abnormality of the breast	1026	CDKN1A	ORPHA:652
HP:0000769	Abnormality of the breast	1031	CDKN2C	ORPHA:652
HP:0000769	Abnormality of the breast	64072	CDH23	ORPHA:2965
HP:0000769	Abnormality of the breast	9049	AIP	ORPHA:2965
HP:0000769	Abnormality of the breast	9049	AIP	ORPHA:99725
HP:0000769	Abnormality of the breast	9049	AIP	ORPHA:963
HP:0000769	Abnormality of the breast	9049	AIP	OMIM:102200
HP:0000769	Abnormality of the breast	3662	IRF4	ORPHA:3452
HP:0000769	Abnormality of the breast	83550	GPR101	ORPHA:963
HP:0010981	Hypolipoproteinemia	4000	LMNA	ORPHA:280365
HP:0010981	Hypolipoproteinemia	4000	LMNA	OMIM:151660
HP:0010981	Hypolipoproteinemia	9056	SLC7A7	ORPHA:470
HP:0010981	Hypolipoproteinemia	6609	SMPD1	ORPHA:77293
HP:0010981	Hypolipoproteinemia	6609	SMPD1	OMIM:607616
HP:0010981	Hypolipoproteinemia	63036	CELA2A	OMIM:618620
HP:0010981	Hypolipoproteinemia	2590	GALNT2	OMIM:618885
HP:0010981	Hypolipoproteinemia	335	APOA1	OMIM:618463
HP:0010981	Hypolipoproteinemia	335	APOA1	OMIM:619836
HP:0010981	Hypolipoproteinemia	335	APOA1	ORPHA:425
HP:0010981	Hypolipoproteinemia	3988	LIPA	OMIM:278000
HP:0010981	Hypolipoproteinemia	19	ABCA1	OMIM:604091
HP:0010981	Hypolipoproteinemia	19	ABCA1	OMIM:205400
HP:0010981	Hypolipoproteinemia	19	ABCA1	ORPHA:425
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	ORPHA:247585
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	OMIM:605814
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	ORPHA:247598
HP:0010981	Hypolipoproteinemia	338	APOB	OMIM:615558
HP:0010981	Hypolipoproteinemia	7840	ALMS1	OMIM:203800
HP:0010981	Hypolipoproteinemia	4547	MTTP	ORPHA:14
HP:0010981	Hypolipoproteinemia	3931	LCAT	OMIM:245900
HP:0010981	Hypolipoproteinemia	3931	LCAT	OMIM:136120
HP:0010981	Hypolipoproteinemia	3931	LCAT	ORPHA:79292
HP:0010981	Hypolipoproteinemia	5468	PPARG	OMIM:604367
HP:0010981	Hypolipoproteinemia	84699	CREB3L3	OMIM:619324
HP:0010981	Hypolipoproteinemia	116519	APOA5	OMIM:144650
HP:0010981	Hypolipoproteinemia	84984	CEP19	OMIM:615703
HP:0010981	Hypolipoproteinemia	6307	MSMO1	OMIM:616834
HP:0010981	Hypolipoproteinemia	5696	PSMB8	OMIM:256040
HP:0010981	Hypolipoproteinemia	338328	GPIHBP1	OMIM:615947
HP:0010981	Hypolipoproteinemia	348	APOE	ORPHA:412
HP:0010981	Hypolipoproteinemia	27329	ANGPTL3	OMIM:605019
HP:0010981	Hypolipoproteinemia	51128	SAR1B	OMIM:246700
HP:0010981	Hypolipoproteinemia	2222	FDFT1	OMIM:618156
HP:0010981	Hypolipoproteinemia	26119	LDLRAP1	OMIM:603813
HP:0010981	Hypolipoproteinemia	345	APOC3	OMIM:614028
HP:0010981	Hypolipoproteinemia	29929	ALG6	ORPHA:79320
HP:0010981	Hypolipoproteinemia	55768	NGLY1	ORPHA:404454
HP:0010981	Hypolipoproteinemia	80025	PANK2	OMIM:607236
HP:0010981	Hypolipoproteinemia	2683	B4GALT1	ORPHA:79332
HP:0010982	Polygenic inheritance	3356	HTR2A	OMIM:608516
HP:0010982	Polygenic inheritance	2289	FKBP5	OMIM:608516
HP:0010982	Polygenic inheritance	121278	TPH2	OMIM:608516
HP:0010982	Polygenic inheritance	219736	STOX1	OMIM:609404
HP:0010982	Polygenic inheritance	154	ADRB2	OMIM:601665
HP:0010982	Polygenic inheritance	155	ADRB3	OMIM:601665
HP:0010982	Polygenic inheritance	5167	ENPP1	OMIM:601665
HP:0010982	Polygenic inheritance	7352	UCP3	OMIM:601665
HP:0010982	Polygenic inheritance	8431	NR0B2	OMIM:601665
HP:0010982	Polygenic inheritance	9607	CARTPT	OMIM:601665
HP:0010982	Polygenic inheritance	5443	POMC	OMIM:601665
HP:0010982	Polygenic inheritance	51738	GHRL	OMIM:601665
HP:0010982	Polygenic inheritance	5468	PPARG	OMIM:601665
HP:0010982	Polygenic inheritance	9672	SDC3	OMIM:601665
HP:0010982	Polygenic inheritance	181	AGRP	OMIM:601665
HP:0010982	Polygenic inheritance	7157	TP53	OMIM:607107
HP:0010982	Polygenic inheritance	22861	NLRP1	OMIM:606579
HP:0010982	Polygenic inheritance	652	BMP4	OMIM:600625
HP:0010982	Polygenic inheritance	581	BAX	OMIM:613065
HP:0010982	Polygenic inheritance	2322	FLT3	OMIM:613065
HP:0010982	Polygenic inheritance	2782	GNB1	OMIM:613065
HP:0010982	Polygenic inheritance	4683	NBN	OMIM:613065
HP:0010982	Polygenic inheritance	8021	NUP214	OMIM:613065
HP:0010982	Polygenic inheritance	613	BCR	OMIM:613065
HP:0010982	Polygenic inheritance	6886	TAL1	OMIM:613065
HP:0010982	Polygenic inheritance	6887	TAL2	OMIM:613065
HP:0010982	Polygenic inheritance	8542	APOL1	OMIM:612551
HP:0010982	Polygenic inheritance	64241	ABCG8	OMIM:611465
HP:0010982	Polygenic inheritance	144568	A2ML1	OMIM:166760
HP:0010982	Polygenic inheritance	3075	CFH	OMIM:610698
HP:0010982	Polygenic inheritance	5654	HTRA1	OMIM:610149
HP:0010982	Polygenic inheritance	1471	CST3	OMIM:611953
HP:0010982	Polygenic inheritance	3664	IRF6	OMIM:608864
HP:0010982	Polygenic inheritance	871	SERPINH1	OMIM:610504
HP:0010983	Oligogenic inheritance	23767	FLRT3	OMIM:615271
HP:0010984	Digenic inheritance	7298	TYMS	OMIM:620040
HP:0010984	Digenic inheritance	128	ADH5	OMIM:619151
HP:0010984	Digenic inheritance	79659	DYNC2H1	OMIM:613091
HP:0010984	Digenic inheritance	9573	GDF3	OMIM:613703
HP:0010984	Digenic inheritance	392255	GDF6	OMIM:613703
HP:0010984	Digenic inheritance	23347	SMCHD1	OMIM:158901
HP:0010984	Digenic inheritance	55791	LRIF1	OMIM:619477
HP:0010984	Digenic inheritance	1789	DNMT3B	OMIM:619478
HP:0010984	Digenic inheritance	10804	GJB6	OMIM:220290
HP:0010984	Digenic inheritance	2706	GJB2	OMIM:220290
HP:0010984	Digenic inheritance	2707	GJB3	OMIM:220290
HP:0010984	Digenic inheritance	28234	SLCO1B3	OMIM:237450
HP:0010984	Digenic inheritance	10599	SLCO1B1	OMIM:237450
HP:0010984	Digenic inheritance	4750	NEK1	OMIM:263520
HP:0010987	Abnormal cellular immune system morphology	9015	TAF1A	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	5663	PSEN1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	6389	SDHA	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7112	TMPO	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	9464	HAND2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	4625	MYH7	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	88	ACTN2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	10486	CAP2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	10060	ABCC9	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7168	TPM1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7414	VCL	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	1832	DSP	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	70	ACTC1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	27063	ANKRD1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	8048	CSRP3	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	1410	CRYAB	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	4000	LMNA	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7139	TNNT2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	1829	DSG2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	3910	LAMA4	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	63976	PRDM16	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7273	TTN	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	10587	TXNRD2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	9531	BAG3	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	5350	PLN	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	91624	NEXN	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	79717	PPCS	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	5664	PSEN2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	4624	MYH6	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	9529	BAG5	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	4607	MYBPC3	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	282996	RBM20	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7137	TNNI3	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	11155	LDB3	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	2274	FHL2	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	22845	DOLK	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	5894	RAF1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	1756	DMD	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	57798	GATAD1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	7134	TNNC1	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	84665	MYPN	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	1674	DES	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	6444	SGCD	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	6331	SCN5A	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	2218	FKTN	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	8557	TCAP	ORPHA:154
HP:0010987	Abnormal cellular immune system morphology	3106	HLA-B	ORPHA:36426
HP:0010987	Abnormal cellular immune system morphology	80169	CTC1	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	55651	NHP2	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	55135	WRAP53	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	55505	NOP10	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	7298	TYMS	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	4689	NCF4	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	26235	FBXL4	OMIM:615471
HP:0010987	Abnormal cellular immune system morphology	23241	PACS2	OMIM:618067
HP:0010987	Abnormal cellular immune system morphology	959	CD40LG	OMIM:308230
HP:0010987	Abnormal cellular immune system morphology	10559	SLC35A1	ORPHA:238459
HP:0010987	Abnormal cellular immune system morphology	10559	SLC35A1	OMIM:603585
HP:0010987	Abnormal cellular immune system morphology	4552	MTRR	ORPHA:2169
HP:0010987	Abnormal cellular immune system morphology	55788	LMBRD1	OMIM:277380
HP:0010987	Abnormal cellular immune system morphology	55788	LMBRD1	ORPHA:79284
HP:0010987	Abnormal cellular immune system morphology	2122	MECOM	OMIM:616738
HP:0010987	Abnormal cellular immune system morphology	2530	FUT8	OMIM:618005
HP:0010987	Abnormal cellular immune system morphology	7037	TFRC	OMIM:616740
HP:0010987	Abnormal cellular immune system morphology	816	CAMK2B	OMIM:617799
HP:0010987	Abnormal cellular immune system morphology	28956	LAMTOR2	ORPHA:90023
HP:0010987	Abnormal cellular immune system morphology	28956	LAMTOR2	OMIM:610798
HP:0010987	Abnormal cellular immune system morphology	5095	PCCA	OMIM:606054
HP:0010987	Abnormal cellular immune system morphology	5096	PCCB	OMIM:606054
HP:0010987	Abnormal cellular immune system morphology	112812	FDX2	OMIM:251900
HP:0010987	Abnormal cellular immune system morphology	958	CD40	OMIM:606843
HP:0010987	Abnormal cellular immune system morphology	4700	NDUFA6	OMIM:618253
HP:0010987	Abnormal cellular immune system morphology	5826	ABCD4	OMIM:614857
HP:0010987	Abnormal cellular immune system morphology	326625	MMAB	OMIM:251110
HP:0010987	Abnormal cellular immune system morphology	2328	FMO3	OMIM:602079
HP:0010987	Abnormal cellular immune system morphology	8943	AP3D1	OMIM:617050
HP:0010987	Abnormal cellular immune system morphology	29927	SEC61A1	OMIM:617056
HP:0010987	Abnormal cellular immune system morphology	4796	TONSL	ORPHA:93357
HP:0010987	Abnormal cellular immune system morphology	4796	TONSL	OMIM:271510
HP:0010987	Abnormal cellular immune system morphology	166785	MMAA	OMIM:251100
HP:0010987	Abnormal cellular immune system morphology	25839	COG4	OMIM:618150
HP:0010987	Abnormal cellular immune system morphology	150274	HSCB	OMIM:619523
HP:0010987	Abnormal cellular immune system morphology	2937	GSS	OMIM:266130
HP:0010987	Abnormal cellular immune system morphology	84522	JAGN1	OMIM:616022
HP:0010987	Abnormal cellular immune system morphology	25974	MMACHC	ORPHA:79282
HP:0010987	Abnormal cellular immune system morphology	25974	MMACHC	OMIM:277400
HP:0010987	Abnormal cellular immune system morphology	51567	TDP2	OMIM:616949
HP:0010987	Abnormal cellular immune system morphology	833	CARS1	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2068	ERCC2	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	7737	RNF113A	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	136647	MPLKIP	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	6897	TARS1	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2071	ERCC3	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2961	GTF2E2	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	27429	HTRA2	OMIM:617248
HP:0010987	Abnormal cellular immune system morphology	7319	UBE2A	ORPHA:163956
HP:0010987	Abnormal cellular immune system morphology	55294	FBXW7	OMIM:620012
HP:0010987	Abnormal cellular immune system morphology	5052	PRDX1	OMIM:277400
HP:0010987	Abnormal cellular immune system morphology	56262	LRRC8A	ORPHA:33110
HP:0010987	Abnormal cellular immune system morphology	30009	TBX21	OMIM:619630
HP:0010987	Abnormal cellular immune system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0010987	Abnormal cellular immune system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010987	Abnormal cellular immune system morphology	825	CAPN3	OMIM:253600
HP:0010987	Abnormal cellular immune system morphology	113235	SLC46A1	ORPHA:90045
HP:0010987	Abnormal cellular immune system morphology	1041	CDSN	OMIM:270300
HP:0010987	Abnormal cellular immune system morphology	6720	SREBF1	OMIM:158310
HP:0010987	Abnormal cellular immune system morphology	3716	JAK1	OMIM:618999
HP:0010987	Abnormal cellular immune system morphology	84905	ZNF341	OMIM:618282
HP:0010987	Abnormal cellular immune system morphology	10999	SLC27A4	ORPHA:88621
HP:0010987	Abnormal cellular immune system morphology	1186	CLCN7	ORPHA:53
HP:0010987	Abnormal cellular immune system morphology	51750	RTEL1	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	65057	ACD	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	5073	PARN	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	6916	TBXAS1	OMIM:231095
HP:0010987	Abnormal cellular immune system morphology	375748	ERCC6L2	OMIM:615715
HP:0010987	Abnormal cellular immune system morphology	55719	SLF2	OMIM:620184
HP:0010987	Abnormal cellular immune system morphology	79650	USB1	OMIM:604173
HP:0010987	Abnormal cellular immune system morphology	55593	OTUD5	OMIM:301056
HP:0010987	Abnormal cellular immune system morphology	374879	ZNF699	OMIM:619488
HP:0010987	Abnormal cellular immune system morphology	11311	VPS45	OMIM:615285
HP:0010987	Abnormal cellular immune system morphology	65082	VPS33A	OMIM:617303
HP:0010987	Abnormal cellular immune system morphology	65082	VPS33A	ORPHA:505248
HP:0010987	Abnormal cellular immune system morphology	3516	RBPJ	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	4851	NOTCH1	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	57514	ARHGAP31	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	57572	DOCK6	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	285203	EOGT	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	54567	DLL4	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	2188	FANCF	OMIM:603467
HP:0010987	Abnormal cellular immune system morphology	2188	FANCF	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	537	ATP6AP1	OMIM:300972
HP:0010987	Abnormal cellular immune system morphology	672	BRCA1	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	10459	MAD2L2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	7516	XRCC2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55120	FANCL	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	2187	FANCB	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	5888	RAD51	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	5889	RAD51C	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55159	RFWD3	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	83990	BRIP1	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	57697	FANCM	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	79728	PALB2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	84464	SLX4	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	2072	ERCC4	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55215	FANCI	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	4594	MMUT	OMIM:251000
HP:0010987	Abnormal cellular immune system morphology	23479	ISCU	OMIM:255125
HP:0010987	Abnormal cellular immune system morphology	157680	VPS13B	OMIM:216550
HP:0010987	Abnormal cellular immune system morphology	5277	PIGA	ORPHA:447
HP:0010987	Abnormal cellular immune system morphology	3712	IVD	OMIM:243500
HP:0010987	Abnormal cellular immune system morphology	26258	BLOC1S6	OMIM:614171
HP:0010987	Abnormal cellular immune system morphology	2212	FCGR2A	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	2213	FCGR2B	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	1773	DNASE1	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	54938	SARS2	OMIM:613845
HP:0010987	Abnormal cellular immune system morphology	7390	UROS	ORPHA:79277
HP:0010987	Abnormal cellular immune system morphology	760	CA2	ORPHA:2785
HP:0010987	Abnormal cellular immune system morphology	2629	GBA1	ORPHA:77259
HP:0010987	Abnormal cellular immune system morphology	950	SCARB2	ORPHA:77259
HP:0010987	Abnormal cellular immune system morphology	5728	PTEN	OMIM:605309
HP:0010987	Abnormal cellular immune system morphology	5728	PTEN	OMIM:158350
HP:0010987	Abnormal cellular immune system morphology	54892	NCAPG2	OMIM:618460
HP:0010987	Abnormal cellular immune system morphology	22800	RRAS2	OMIM:618624
HP:0010987	Abnormal cellular immune system morphology	6775	STAT4	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	6696	SPP1	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	3654	IRAK1	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	11151	CORO1A	OMIM:615401
HP:0010987	Abnormal cellular immune system morphology	26277	TINF2	OMIM:127550
HP:0010987	Abnormal cellular immune system morphology	3930	LBR	OMIM:613471
HP:0010987	Abnormal cellular immune system morphology	7128	TNFAIP3	OMIM:616744
HP:0010987	Abnormal cellular immune system morphology	340061	STING1	OMIM:615934
HP:0010987	Abnormal cellular immune system morphology	4478	MSN	OMIM:300988
HP:0010987	Abnormal cellular immune system morphology	3070	HELLS	ORPHA:2268
HP:0010987	Abnormal cellular immune system morphology	83879	CDCA7	ORPHA:2268
HP:0010987	Abnormal cellular immune system morphology	4790	NFKB1	ORPHA:1572
HP:0010987	Abnormal cellular immune system morphology	8742	TNFSF12	ORPHA:1572
HP:0010987	Abnormal cellular immune system morphology	200734	SPRED2	OMIM:619745
HP:0010987	Abnormal cellular immune system morphology	8883	NAE1	OMIM:620210
HP:0010987	Abnormal cellular immune system morphology	80185	TTI2	ORPHA:391307
HP:0010987	Abnormal cellular immune system morphology	54809	SAMD9	OMIM:617053
HP:0010987	Abnormal cellular immune system morphology	8879	SGPL1	OMIM:617575
HP:0010987	Abnormal cellular immune system morphology	9508	ADAMTS3	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	147372	CCBE1	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	79633	FAT4	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	6789	STK4	OMIM:614868
HP:0010987	Abnormal cellular immune system morphology	7036	TFR2	OMIM:604250
HP:0010987	Abnormal cellular immune system morphology	51284	TLR7	OMIM:301080
HP:0010987	Abnormal cellular immune system morphology	6948	TCN2	ORPHA:859
HP:0010987	Abnormal cellular immune system morphology	64135	IFIH1	OMIM:619773
HP:0010987	Abnormal cellular immune system morphology	5692	PSMB4	OMIM:617591
HP:0010987	Abnormal cellular immune system morphology	5698	PSMB9	OMIM:617591
HP:0010987	Abnormal cellular immune system morphology	4194	MDM4	OMIM:618849
HP:0010987	Abnormal cellular immune system morphology	404672	GTF2H5	OMIM:616395
HP:0010987	Abnormal cellular immune system morphology	9652	SKIC3	ORPHA:84064
HP:0010987	Abnormal cellular immune system morphology	6499	SKIC2	ORPHA:84064
HP:0010987	Abnormal cellular immune system morphology	5297	PI4KA	OMIM:619708
HP:0010987	Abnormal cellular immune system morphology	2215	FCGR3B	ORPHA:464370
HP:0010987	Abnormal cellular immune system morphology	7174	TPP2	OMIM:619220
HP:0010987	Abnormal cellular immune system morphology	4860	PNP	OMIM:613179
HP:0010987	Abnormal cellular immune system morphology	83737	ITCH	ORPHA:228426
HP:0010987	Abnormal cellular immune system morphology	2177	FANCD2	OMIM:227646
HP:0010987	Abnormal cellular immune system morphology	2176	FANCC	OMIM:227645
HP:0010987	Abnormal cellular immune system morphology	2189	FANCG	OMIM:614082
HP:0010987	Abnormal cellular immune system morphology	8294	H4C9	OMIM:619951
HP:0010987	Abnormal cellular immune system morphology	25913	POT1	OMIM:616568
HP:0010987	Abnormal cellular immune system morphology	6335	SCN9A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	11280	SCN11A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	6336	SCN10A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	1387	CREBBP	OMIM:180849
HP:0010987	Abnormal cellular immune system morphology	2033	EP300	OMIM:180849
HP:0010987	Abnormal cellular immune system morphology	9401	RECQL4	ORPHA:221016
HP:0010987	Abnormal cellular immune system morphology	7012	TERC	OMIM:614743
HP:0010987	Abnormal cellular immune system morphology	324	APC	ORPHA:99818
HP:0010987	Abnormal cellular immune system morphology	2065	ERBB3	OMIM:133180
HP:0010987	Abnormal cellular immune system morphology	5925	RB1	OMIM:180200
HP:0010987	Abnormal cellular immune system morphology	4292	MLH1	OMIM:276300
HP:0010987	Abnormal cellular immune system morphology	5290	PIK3CA	OMIM:602501
HP:0010987	Abnormal cellular immune system morphology	2178	FANCE	OMIM:600901
HP:0010987	Abnormal cellular immune system morphology	2175	FANCA	OMIM:227650
HP:0010987	Abnormal cellular immune system morphology	3832	KIF11	ORPHA:2526
HP:0010987	Abnormal cellular immune system morphology	8216	LZTR1	OMIM:605275
HP:0010987	Abnormal cellular immune system morphology	4763	NF1	ORPHA:97685
HP:0010987	Abnormal cellular immune system morphology	23476	BRD4	ORPHA:443167
HP:0010987	Abnormal cellular immune system morphology	256646	NUTM1	ORPHA:443167
HP:0010987	Abnormal cellular immune system morphology	64682	ANAPC1	ORPHA:221008
HP:0010987	Abnormal cellular immune system morphology	51099	ABHD5	ORPHA:98907
HP:0010987	Abnormal cellular immune system morphology	6901	TAFAZZIN	OMIM:302060
HP:0010987	Abnormal cellular immune system morphology	6234	RPS28	OMIM:606164
HP:0010987	Abnormal cellular immune system morphology	26503	SLC17A5	OMIM:604369
HP:0010987	Abnormal cellular immune system morphology	26503	SLC17A5	OMIM:269920
HP:0010987	Abnormal cellular immune system morphology	57104	PNPLA2	ORPHA:565612
HP:0010987	Abnormal cellular immune system morphology	4125	MAN2B1	OMIM:248500
HP:0010987	Abnormal cellular immune system morphology	5538	PPT1	OMIM:256730
HP:0010987	Abnormal cellular immune system morphology	2517	FUCA1	OMIM:230000
HP:0010987	Abnormal cellular immune system morphology	1203	CLN5	OMIM:256731
HP:0010987	Abnormal cellular immune system morphology	1201	CLN3	OMIM:204200
HP:0010987	Abnormal cellular immune system morphology	1201	CLN3	ORPHA:228346
HP:0010987	Abnormal cellular immune system morphology	175	AGA	OMIM:208400
HP:0010987	Abnormal cellular immune system morphology	3689	ITGB2	OMIM:116920
HP:0010987	Abnormal cellular immune system morphology	3155	HMGCL	ORPHA:20
HP:0010987	Abnormal cellular immune system morphology	27178	IL37	OMIM:619398
HP:0010987	Abnormal cellular immune system morphology	8573	CASK	OMIM:300908
HP:0010987	Abnormal cellular immune system morphology	2539	G6PD	OMIM:300908
HP:0010987	Abnormal cellular immune system morphology	811	CALR	ORPHA:824
HP:0010987	Abnormal cellular immune system morphology	4352	MPL	ORPHA:824
HP:0010987	Abnormal cellular immune system morphology	3717	JAK2	ORPHA:824
HP:0010987	Abnormal cellular immune system morphology	3717	JAK2	OMIM:263300
HP:0010987	Abnormal cellular immune system morphology	7518	XRCC4	ORPHA:99812
HP:0010987	Abnormal cellular immune system morphology	5314	PKHD1	ORPHA:53035
HP:0010987	Abnormal cellular immune system morphology	23451	SF3B1	ORPHA:75564
HP:0010987	Abnormal cellular immune system morphology	8882	ZPR1	OMIM:619321
HP:0010987	Abnormal cellular immune system morphology	3459	IFNGR1	OMIM:209950
HP:0010987	Abnormal cellular immune system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0010987	Abnormal cellular immune system morphology	9663	LPIN2	ORPHA:77297
HP:0010987	Abnormal cellular immune system morphology	84196	USP48	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	7157	TP53	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	9101	USP8	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	64072	CDH23	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	2908	NR3C1	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	673	BRAF	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	546	ATRX	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	OMIM:603903
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	ORPHA:232
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	ORPHA:231222
HP:0010987	Abnormal cellular immune system morphology	10616	RBCK1	OMIM:615895
HP:0010987	Abnormal cellular immune system morphology	6773	STAT2	OMIM:618886
HP:0010987	Abnormal cellular immune system morphology	22852	ANKRD26	OMIM:188000
HP:0010987	Abnormal cellular immune system morphology	114548	NLRP3	ORPHA:1451
HP:0010987	Abnormal cellular immune system morphology	114548	NLRP3	OMIM:191900
HP:0010987	Abnormal cellular immune system morphology	114548	NLRP3	OMIM:607115
HP:0010987	Abnormal cellular immune system morphology	114548	NLRP3	OMIM:120100
HP:0010987	Abnormal cellular immune system morphology	57167	SALL4	ORPHA:2307
HP:0010987	Abnormal cellular immune system morphology	57167	SALL4	OMIM:147750
HP:0010987	Abnormal cellular immune system morphology	11330	CTRC	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	5644	PRSS1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	5645	PRSS2	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	6690	SPINK1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	846	CASR	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	1080	CFTR	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	1357	CPA1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	10367	MICU1	OMIM:615673
HP:0010987	Abnormal cellular immune system morphology	83706	FERMT3	OMIM:612840
HP:0010987	Abnormal cellular immune system morphology	374354	NHLRC2	OMIM:618278
HP:0010987	Abnormal cellular immune system morphology	144811	LACC1	OMIM:618795
HP:0010987	Abnormal cellular immune system morphology	51816	ADA2	OMIM:615688
HP:0010987	Abnormal cellular immune system morphology	91662	NLRP12	OMIM:611762
HP:0010987	Abnormal cellular immune system morphology	10551	AGR2	OMIM:620233
HP:0010987	Abnormal cellular immune system morphology	38	ACAT1	ORPHA:134
HP:0010987	Abnormal cellular immune system morphology	5966	REL	OMIM:619652
HP:0010987	Abnormal cellular immune system morphology	4938	OAS1	OMIM:618042
HP:0010987	Abnormal cellular immune system morphology	3458	IFNG	OMIM:618963
HP:0010987	Abnormal cellular immune system morphology	9939	RBM8A	OMIM:274000
HP:0010987	Abnormal cellular immune system morphology	28962	OSTM1	OMIM:259720
HP:0010987	Abnormal cellular immune system morphology	613	BCR	ORPHA:521
HP:0010987	Abnormal cellular immune system morphology	25	ABL1	ORPHA:521
HP:0010987	Abnormal cellular immune system morphology	6774	STAT3	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5371	PML	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5914	RARA	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	359948	IRF2BP2	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	81608	FIP1L1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	4869	NPM1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5573	PRKAR1A	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	54880	BCOR	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	64859	NABP1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	6777	STAT5B	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	4926	NUMA1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	7704	ZBTB16	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	79718	TBL1XR1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	7040	TGFB1	OMIM:618213
HP:0010987	Abnormal cellular immune system morphology	8517	IKBKG	OMIM:308300
HP:0010987	Abnormal cellular immune system morphology	6609	SMPD1	OMIM:607616
HP:0010987	Abnormal cellular immune system morphology	6609	SMPD1	OMIM:257200
HP:0010987	Abnormal cellular immune system morphology	10577	NPC2	OMIM:607625
HP:0010987	Abnormal cellular immune system morphology	2720	GLB1	OMIM:230600
HP:0010987	Abnormal cellular immune system morphology	348	APOE	ORPHA:158029
HP:0010987	Abnormal cellular immune system morphology	348	APOE	OMIM:269600
HP:0010987	Abnormal cellular immune system morphology	4864	NPC1	OMIM:257220
HP:0010987	Abnormal cellular immune system morphology	5566	PRKACA	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	5567	PRKACB	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	2735	GLI1	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	2121	EVC	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	51626	DYNC2LI1	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	132884	EVC2	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	10019	SH2B3	ORPHA:3318
HP:0010987	Abnormal cellular immune system morphology	412	STS	ORPHA:281090
HP:0010987	Abnormal cellular immune system morphology	7305	TYROBP	ORPHA:2770
HP:0010987	Abnormal cellular immune system morphology	54209	TREM2	ORPHA:2770
HP:0010987	Abnormal cellular immune system morphology	4683	NBN	ORPHA:647
HP:0010987	Abnormal cellular immune system morphology	9487	PIGL	ORPHA:3474
HP:0010987	Abnormal cellular immune system morphology	29760	BLNK	OMIM:613502
HP:0010987	Abnormal cellular immune system morphology	26191	PTPN22	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	5657	PRTN3	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	3113	HLA-DPA1	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	4688	NCF2	OMIM:233710
HP:0010987	Abnormal cellular immune system morphology	79415	CYBC1	OMIM:618935
HP:0010987	Abnormal cellular immune system morphology	1536	CYBB	OMIM:306400
HP:0010987	Abnormal cellular immune system morphology	653361	NCF1	OMIM:233700
HP:0010987	Abnormal cellular immune system morphology	84888	SPPL2A	OMIM:619549
HP:0010987	Abnormal cellular immune system morphology	1535	CYBA	OMIM:233690
HP:0010987	Abnormal cellular immune system morphology	4247	MGAT2	ORPHA:79329
HP:0010987	Abnormal cellular immune system morphology	6772	STAT1	OMIM:614162
HP:0010987	Abnormal cellular immune system morphology	3718	JAK3	OMIM:600802
HP:0010987	Abnormal cellular immune system morphology	3718	JAK3	ORPHA:35078
HP:0010987	Abnormal cellular immune system morphology	57217	TTC7A	OMIM:243150
HP:0010987	Abnormal cellular immune system morphology	55388	MCM10	OMIM:619313
HP:0010987	Abnormal cellular immune system morphology	4615	MYD88	OMIM:153600
HP:0010987	Abnormal cellular immune system morphology	5788	PTPRC	OMIM:619924
HP:0010987	Abnormal cellular immune system morphology	6023	RMRP	OMIM:250250
HP:0010987	Abnormal cellular immune system morphology	7535	ZAP70	OMIM:617006
HP:0010987	Abnormal cellular immune system morphology	64919	BCL11B	OMIM:617237
HP:0010987	Abnormal cellular immune system morphology	200942	KLHDC8B	OMIM:236000
HP:0010987	Abnormal cellular immune system morphology	6445	SGCG	ORPHA:353
HP:0010987	Abnormal cellular immune system morphology	219285	SAMD9L	ORPHA:2585
HP:0010987	Abnormal cellular immune system morphology	23495	TNFRSF13B	OMIM:609529
HP:0010987	Abnormal cellular immune system morphology	1493	CTLA4	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	1493	CTLA4	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	940	CD28	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	940	CD28	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	7133	TNFRSF1B	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	7133	TNFRSF1B	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	23765	IL17RA	OMIM:613953
HP:0010987	Abnormal cellular immune system morphology	4791	NFKB2	ORPHA:293978
HP:0010987	Abnormal cellular immune system morphology	55636	CHD7	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	3981	LIG4	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	5896	RAG1	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	5897	RAG2	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	64421	DCLRE1C	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	100	ADA	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	3988	LIPA	OMIM:278000
HP:0010987	Abnormal cellular immune system morphology	3988	LIPA	ORPHA:75233
HP:0010987	Abnormal cellular immune system morphology	4758	NEU1	OMIM:256550
HP:0010987	Abnormal cellular immune system morphology	128	ADH5	OMIM:619151
HP:0010987	Abnormal cellular immune system morphology	26511	CHIC2	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	1050	CEBPA	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	6455	SH3GL1	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8028	MLLT10	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8301	PICALM	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	4026	LPP	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8930	MBD4	OMIM:619975
HP:0010987	Abnormal cellular immune system morphology	1736	DKC1	OMIM:305000
HP:0010987	Abnormal cellular immune system morphology	6135	RPL11	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6138	RPL15	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6229	RPS24	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6125	RPL5	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6204	RPS10	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6224	RPS20	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6165	RPL35A	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6223	RPS19	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6232	RPS27	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6231	RPS26	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	11224	RPL35	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6160	RPL31	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6218	RPS17	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6201	RPS7	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6155	RPL27	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6154	RPL26	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6210	RPS15A	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	90121	TSR2	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6141	RPL18	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6235	RPS29	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	29089	UBE2T	OMIM:616435
HP:0010987	Abnormal cellular immune system morphology	2120	ETV6	OMIM:616216
HP:0010987	Abnormal cellular immune system morphology	3417	IDH1	ORPHA:99646
HP:0010987	Abnormal cellular immune system morphology	10841	FTCD	OMIM:229100
HP:0010987	Abnormal cellular immune system morphology	119559	SFXN4	OMIM:615578
HP:0010987	Abnormal cellular immune system morphology	8029	CUBN	ORPHA:35858
HP:0010987	Abnormal cellular immune system morphology	81693	AMN	ORPHA:35858
HP:0010987	Abnormal cellular immune system morphology	6573	SLC19A1	OMIM:601775
HP:0010987	Abnormal cellular immune system morphology	4522	MTHFD1	OMIM:617780
HP:0010987	Abnormal cellular immune system morphology	161742	SPRED1	ORPHA:137605
HP:0010987	Abnormal cellular immune system morphology	5557	PRIM1	OMIM:620005
HP:0010987	Abnormal cellular immune system morphology	1789	DNMT3B	OMIM:242860
HP:0010987	Abnormal cellular immune system morphology	695	BTK	OMIM:300755
HP:0010987	Abnormal cellular immune system morphology	6909	TBX2	OMIM:618223
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	OMIM:601705
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	OMIM:618806
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	ORPHA:169095
HP:0010987	Abnormal cellular immune system morphology	3574	IL7	OMIM:618309
HP:0010987	Abnormal cellular immune system morphology	8737	RIPK1	OMIM:618108
HP:0010987	Abnormal cellular immune system morphology	23149	FCHO1	OMIM:619164
HP:0010987	Abnormal cellular immune system morphology	79840	NHEJ1	ORPHA:169079
HP:0010987	Abnormal cellular immune system morphology	54	ACP5	OMIM:607944
HP:0010987	Abnormal cellular immune system morphology	919	CD247	OMIM:610163
HP:0010987	Abnormal cellular immune system morphology	3431	SP110	ORPHA:79124
HP:0010987	Abnormal cellular immune system morphology	1794	DOCK2	OMIM:616433
HP:0010987	Abnormal cellular immune system morphology	3071	NCKAP1L	OMIM:618982
HP:0010987	Abnormal cellular immune system morphology	84433	CARD11	OMIM:616452
HP:0010987	Abnormal cellular immune system morphology	2137	EXTL3	ORPHA:508533
HP:0010987	Abnormal cellular immune system morphology	3561	IL2RG	ORPHA:276
HP:0010987	Abnormal cellular immune system morphology	3561	IL2RG	OMIM:312863
HP:0010987	Abnormal cellular immune system morphology	57724	EPG5	OMIM:242840
HP:0010987	Abnormal cellular immune system morphology	7454	WAS	OMIM:301000
HP:0010987	Abnormal cellular immune system morphology	84061	MAGT1	OMIM:300853
HP:0010987	Abnormal cellular immune system morphology	10043	TOM1	OMIM:619510
HP:0010987	Abnormal cellular immune system morphology	3702	ITK	OMIM:613011
HP:0010987	Abnormal cellular immune system morphology	10625	IVNS1ABP	OMIM:618969
HP:0010987	Abnormal cellular immune system morphology	3551	IKBKB	OMIM:618204
HP:0010987	Abnormal cellular immune system morphology	3932	LCK	OMIM:615758
HP:0010987	Abnormal cellular immune system morphology	54440	SASH3	OMIM:301082
HP:0010987	Abnormal cellular immune system morphology	9094	UNC119	OMIM:615518
HP:0010987	Abnormal cellular immune system morphology	90417	KNSTRN	ORPHA:221139
HP:0010987	Abnormal cellular immune system morphology	4609	MYC	ORPHA:543
HP:0010987	Abnormal cellular immune system morphology	3575	IL7R	ORPHA:169154
HP:0010987	Abnormal cellular immune system morphology	81704	DOCK8	OMIM:243700
HP:0010987	Abnormal cellular immune system morphology	56160	NSMCE3	OMIM:617241
HP:0010987	Abnormal cellular immune system morphology	472	ATM	OMIM:208900
HP:0010987	Abnormal cellular immune system morphology	3953	LEPR	ORPHA:179494
HP:0010987	Abnormal cellular immune system morphology	3952	LEP	ORPHA:66628
HP:0010987	Abnormal cellular immune system morphology	7456	WIPF1	OMIM:614493
HP:0010987	Abnormal cellular immune system morphology	917	CD3G	OMIM:615607
HP:0010987	Abnormal cellular immune system morphology	925	CD8A	OMIM:608957
HP:0010987	Abnormal cellular immune system morphology	7066	THPO	ORPHA:71493
HP:0010987	Abnormal cellular immune system morphology	1991	ELANE	OMIM:202700
HP:0010987	Abnormal cellular immune system morphology	204	AK2	OMIM:267500
HP:0010987	Abnormal cellular immune system morphology	210	ALAD	ORPHA:100924
HP:0010987	Abnormal cellular immune system morphology	5159	PDGFRB	OMIM:131440
HP:0010987	Abnormal cellular immune system morphology	5156	PDGFRA	OMIM:607685
HP:0010987	Abnormal cellular immune system morphology	10535	RNASEH2A	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	84153	RNASEH2C	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	25939	SAMHD1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	103	ADAR	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	11277	TREX1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	100147744	RNU7-1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	134353	LSM11	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	10312	TCIRG1	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	2672	GFI1	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	54888	NSUN2	ORPHA:235
HP:0010987	Abnormal cellular immune system morphology	9184	BUB3	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	699	BUB1	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	9702	CEP57	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	9319	TRIP13	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	701	BUB1B	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	581	BAX	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	2322	FLT3	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	2782	GNB1	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	8021	NUP214	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	6886	TAL1	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	6887	TAL2	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	10320	IKZF1	OMIM:616873
HP:0010987	Abnormal cellular immune system morphology	10456	HAX1	OMIM:610738
HP:0010987	Abnormal cellular immune system morphology	64324	NSD1	ORPHA:821
HP:0010987	Abnormal cellular immune system morphology	29072	SETD2	ORPHA:821
HP:0010987	Abnormal cellular immune system morphology	10297	APC2	ORPHA:821
HP:0010987	Abnormal cellular immune system morphology	1029	CDKN2A	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	4193	MDM2	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	11200	CHEK2	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	675	BRCA2	OMIM:605724
HP:0010987	Abnormal cellular immune system morphology	675	BRCA2	OMIM:613029
HP:0010987	Abnormal cellular immune system morphology	4436	MSH2	OMIM:619096
HP:0010987	Abnormal cellular immune system morphology	1854	DUT	OMIM:620044
HP:0010987	Abnormal cellular immune system morphology	2623	GATA1	OMIM:190685
HP:0010987	Abnormal cellular immune system morphology	51095	TRNT1	OMIM:616084
HP:0010987	Abnormal cellular immune system morphology	9841	ZBTB24	OMIM:614069
HP:0010987	Abnormal cellular immune system morphology	22806	IKZF3	OMIM:619437
HP:0010987	Abnormal cellular immune system morphology	3507	IGHM	OMIM:601495
HP:0010987	Abnormal cellular immune system morphology	114803	MYSM1	ORPHA:508542
HP:0010987	Abnormal cellular immune system morphology	974	CD79B	OMIM:612692
HP:0010987	Abnormal cellular immune system morphology	23250	ATP11A	OMIM:619851
HP:0010987	Abnormal cellular immune system morphology	79087	ALG12	ORPHA:79324
HP:0010987	Abnormal cellular immune system morphology	96459	FNIP1	OMIM:619705
HP:0010987	Abnormal cellular immune system morphology	9138	ARHGEF1	OMIM:618459
HP:0010987	Abnormal cellular immune system morphology	51594	NBAS	OMIM:614800
HP:0010987	Abnormal cellular immune system morphology	10430	TMEM147	OMIM:620075
HP:0010987	Abnormal cellular immune system morphology	975	CD81	OMIM:613496
HP:0010987	Abnormal cellular immune system morphology	59067	IL21	OMIM:615767
HP:0010987	Abnormal cellular immune system morphology	115650	TNFRSF13C	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	115650	TNFRSF13C	OMIM:613494
HP:0010987	Abnormal cellular immune system morphology	1380	CR2	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	29851	ICOS	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	29851	ICOS	OMIM:607594
HP:0010987	Abnormal cellular immune system morphology	930	CD19	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	930	CD19	OMIM:613493
HP:0010987	Abnormal cellular immune system morphology	931	MS4A1	OMIM:613495
HP:0010987	Abnormal cellular immune system morphology	2038	EPB42	OMIM:612690
HP:0010987	Abnormal cellular immune system morphology	90268	OTULIN	OMIM:617099
HP:0010987	Abnormal cellular immune system morphology	3394	IRF8	OMIM:226990
HP:0010987	Abnormal cellular immune system morphology	4598	MVK	OMIM:260920
HP:0010987	Abnormal cellular immune system morphology	26525	IL36RN	OMIM:614204
HP:0010987	Abnormal cellular immune system morphology	4210	MEFV	ORPHA:3243
HP:0010987	Abnormal cellular immune system morphology	4210	MEFV	OMIM:249100
HP:0010987	Abnormal cellular immune system morphology	1441	CSF3R	OMIM:162830
HP:0010987	Abnormal cellular immune system morphology	55343	SLC35C1	OMIM:266265
HP:0010987	Abnormal cellular immune system morphology	55343	SLC35C1	ORPHA:99843
HP:0010987	Abnormal cellular immune system morphology	5293	PIK3CD	OMIM:619281
HP:0010987	Abnormal cellular immune system morphology	57169	ZNFX1	OMIM:619644
HP:0010987	Abnormal cellular immune system morphology	5971	RELB	OMIM:617585
HP:0010987	Abnormal cellular immune system morphology	3557	IL1RN	OMIM:612852
HP:0010987	Abnormal cellular immune system morphology	5880	RAC2	OMIM:608203
HP:0010987	Abnormal cellular immune system morphology	7187	TRAF3	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	81622	UNC93B1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	148022	TICAM1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	7098	TLR3	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	29110	TBK1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	7852	CXCR4	ORPHA:51636
HP:0010987	Abnormal cellular immune system morphology	6208	RPS14	ORPHA:86841
HP:0010987	Abnormal cellular immune system morphology	1053	CEBPE	OMIM:245480
HP:0010987	Abnormal cellular immune system morphology	2821	GPI	OMIM:613470
HP:0010987	Abnormal cellular immune system morphology	9056	SLC7A7	ORPHA:470
HP:0010987	Abnormal cellular immune system morphology	9056	SLC7A7	OMIM:222700
HP:0010987	Abnormal cellular immune system morphology	201294	UNC13D	OMIM:608898
HP:0010987	Abnormal cellular immune system morphology	201294	UNC13D	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	5873	RAB27A	OMIM:607624
HP:0010987	Abnormal cellular immune system morphology	5873	RAB27A	ORPHA:79477
HP:0010987	Abnormal cellular immune system morphology	84868	HAVCR2	ORPHA:86884
HP:0010987	Abnormal cellular immune system morphology	84868	HAVCR2	OMIM:618398
HP:0010987	Abnormal cellular immune system morphology	1777	DNASE2	OMIM:619858
HP:0010987	Abnormal cellular immune system morphology	51311	TLR8	OMIM:301078
HP:0010987	Abnormal cellular immune system morphology	5551	PRF1	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	5551	PRF1	OMIM:603553
HP:0010987	Abnormal cellular immune system morphology	8676	STX11	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	8676	STX11	OMIM:603552
HP:0010987	Abnormal cellular immune system morphology	6813	STXBP2	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	6813	STXBP2	OMIM:613101
HP:0010987	Abnormal cellular immune system morphology	939	CD27	OMIM:615122
HP:0010987	Abnormal cellular immune system morphology	5591	PRKDC	OMIM:615966
HP:0010987	Abnormal cellular immune system morphology	916	CD3E	OMIM:615615
HP:0010987	Abnormal cellular immune system morphology	915	CD3D	OMIM:615617
HP:0010987	Abnormal cellular immune system morphology	23092	ARHGAP26	OMIM:607785
HP:0010987	Abnormal cellular immune system morphology	5781	PTPN11	OMIM:607785
HP:0010987	Abnormal cellular immune system morphology	5781	PTPN11	OMIM:163950
HP:0010987	Abnormal cellular immune system morphology	5604	MAP2K1	OMIM:163950
HP:0010987	Abnormal cellular immune system morphology	92579	G6PC3	OMIM:612541
HP:0010987	Abnormal cellular immune system morphology	51428	DDX41	OMIM:616871
HP:0010987	Abnormal cellular immune system morphology	2165	F13B	ORPHA:331
HP:0010987	Abnormal cellular immune system morphology	2162	F13A1	ORPHA:331
HP:0010987	Abnormal cellular immune system morphology	7015	TERT	OMIM:614742
HP:0010987	Abnormal cellular immune system morphology	1788	DNMT3A	ORPHA:404443
HP:0010987	Abnormal cellular immune system morphology	26040	SETBP1	ORPHA:798
HP:0010987	Abnormal cellular immune system morphology	6603	SMARCD2	OMIM:617475
HP:0010987	Abnormal cellular immune system morphology	56259	CTNNBL1	OMIM:619846
HP:0010987	Abnormal cellular immune system morphology	5294	PIK3CG	OMIM:619802
HP:0010987	Abnormal cellular immune system morphology	973	CD79A	OMIM:613501
HP:0010987	Abnormal cellular immune system morphology	3543	IGLL1	OMIM:613500
HP:0010987	Abnormal cellular immune system morphology	7922	SLC39A7	OMIM:619693
HP:0010987	Abnormal cellular immune system morphology	60468	BACH2	OMIM:618394
HP:0010987	Abnormal cellular immune system morphology	8651	SOCS1	OMIM:619375
HP:0010987	Abnormal cellular immune system morphology	10525	HYOU1	OMIM:233600
HP:0010987	Abnormal cellular immune system morphology	5336	PLCG2	OMIM:614878
HP:0010987	Abnormal cellular immune system morphology	3570	IL6R	OMIM:618944
HP:0010987	Abnormal cellular immune system morphology	3115	HLA-DPB1	ORPHA:133
HP:0010987	Abnormal cellular immune system morphology	64170	CARD9	OMIM:212050
HP:0010987	Abnormal cellular immune system morphology	355	FAS	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	356	FASLG	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	843	CASP10	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	641	BLM	ORPHA:125
HP:0010987	Abnormal cellular immune system morphology	5238	PGM3	ORPHA:443811
HP:0010987	Abnormal cellular immune system morphology	5994	RFXAP	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	4261	CIITA	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	5993	RFX5	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	8625	RFXANK	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	9948	WDR1	OMIM:150550
HP:0010987	Abnormal cellular immune system morphology	6850	SYK	OMIM:619381
HP:0010987	Abnormal cellular immune system morphology	50943	FOXP3	ORPHA:37042
HP:0010987	Abnormal cellular immune system morphology	399	RHOH	OMIM:618307
HP:0010987	Abnormal cellular immune system morphology	6117	RPA1	OMIM:619767
HP:0010987	Abnormal cellular immune system morphology	79991	STN1	OMIM:617341
HP:0010987	Abnormal cellular immune system morphology	29775	CARD10	OMIM:619632
HP:0010987	Abnormal cellular immune system morphology	11005	SPINK5	OMIM:256500
HP:0010987	Abnormal cellular immune system morphology	10526	IPO8	OMIM:619472
HP:0010987	Abnormal cellular immune system morphology	28755	TRAC	OMIM:615387
HP:0010987	Abnormal cellular immune system morphology	22861	NLRP1	OMIM:617388
HP:0010987	Abnormal cellular immune system morphology	10159	ATP6AP2	OMIM:301045
HP:0010987	Abnormal cellular immune system morphology	920	CD4	OMIM:619238
HP:0010987	Abnormal cellular immune system morphology	1130	LYST	OMIM:214500
HP:0010987	Abnormal cellular immune system morphology	5580	PRKCD	OMIM:615559
HP:0010987	Abnormal cellular immune system morphology	10125	RASGRP1	OMIM:618534
HP:0010987	Abnormal cellular immune system morphology	51371	POMP	OMIM:618048
HP:0010987	Abnormal cellular immune system morphology	2624	GATA2	OMIM:614038
HP:0010987	Abnormal cellular immune system morphology	1503	CTPS1	OMIM:615897
HP:0010987	Abnormal cellular immune system morphology	841	CASP8	OMIM:607271
HP:0010987	Abnormal cellular immune system morphology	3559	IL2RA	OMIM:606367
HP:0010987	Abnormal cellular immune system morphology	8546	AP3B1	OMIM:608233
HP:0010987	Abnormal cellular immune system morphology	50619	DEF6	OMIM:619573
HP:0010987	Abnormal cellular immune system morphology	3560	IL2RB	OMIM:618495
HP:0010987	Abnormal cellular immune system morphology	8288	EPX	OMIM:261500
HP:0010987	Abnormal cellular immune system morphology	84876	ORAI1	OMIM:612782
HP:0010987	Abnormal cellular immune system morphology	10892	MALT1	OMIM:615468
HP:0010987	Abnormal cellular immune system morphology	6786	STIM1	OMIM:612783
HP:0010987	Abnormal cellular immune system morphology	427	ASAH1	OMIM:228000
HP:0010987	Abnormal cellular immune system morphology	970	CD70	OMIM:618261
HP:0010987	Abnormal cellular immune system morphology	3572	IL6ST	OMIM:619752
HP:0010987	Abnormal cellular immune system morphology	4173	MCM4	OMIM:609981
HP:0010987	Abnormal cellular immune system morphology	58484	NLRC4	OMIM:616050
HP:0010987	Abnormal cellular immune system morphology	567	B2M	OMIM:241600
HP:0010987	Abnormal cellular immune system morphology	2214	FCGR3A	OMIM:615707
HP:0010987	Abnormal cellular immune system morphology	64858	DCLRE1B	OMIM:620133
HP:0010987	Abnormal cellular immune system morphology	9837	GINS1	OMIM:617827
HP:0010987	Abnormal cellular immune system morphology	4627	MYH9	OMIM:155100
HP:0010987	Abnormal cellular immune system morphology	5373	PMM2	ORPHA:79318
HP:0010987	Abnormal cellular immune system morphology	3937	LCP2	OMIM:619374
HP:0010987	Abnormal cellular immune system morphology	340665	CYP26C1	ORPHA:398189
HP:0010987	Abnormal cellular immune system morphology	171023	ASXL1	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	171023	ASXL1	ORPHA:98849
HP:0010987	Abnormal cellular immune system morphology	54790	TET2	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	54790	TET2	ORPHA:98849
HP:0010987	Abnormal cellular immune system morphology	867	CBL	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	861	RUNX1	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	6427	SRSF2	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	6427	SRSF2	ORPHA:98849
HP:0010987	Abnormal cellular immune system morphology	3815	KIT	ORPHA:98849
HP:0010987	Abnormal cellular immune system morphology	55315	SLC29A3	OMIM:602782
HP:0010987	Abnormal cellular immune system morphology	55315	SLC29A3	ORPHA:168569
HP:0010987	Abnormal cellular immune system morphology	2859	GPR35	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	10507	SEMA4D	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	4485	MST1	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	6925	TCF4	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	2000	ELF4	OMIM:301074
HP:0010987	Abnormal cellular immune system morphology	3845	KRAS	OMIM:614470
HP:0010987	Abnormal cellular immune system morphology	4893	NRAS	OMIM:614470
HP:0010987	Abnormal cellular immune system morphology	79621	RNASEH2B	OMIM:610181
HP:0010987	Abnormal cellular immune system morphology	54914	FOCAD	OMIM:619991
HP:0010987	Abnormal cellular immune system morphology	84823	LMNB2	ORPHA:79087
HP:0010987	Abnormal cellular immune system morphology	10095	ARPC1B	OMIM:617718
HP:0010987	Abnormal cellular immune system morphology	331	XIAP	OMIM:308240
HP:0010987	Abnormal cellular immune system morphology	4068	SH2D1A	OMIM:308240
HP:0010987	Abnormal cellular immune system morphology	9451	EIF2AK3	ORPHA:1667
HP:0010987	Abnormal cellular immune system morphology	56244	BTNL2	ORPHA:797
HP:0010987	Abnormal cellular immune system morphology	3123	HLA-DRB1	ORPHA:797
HP:0010987	Abnormal cellular immune system morphology	3579	CXCR2	OMIM:619407
HP:0010987	Abnormal cellular immune system morphology	987	LRBA	OMIM:614700
HP:0010987	Abnormal cellular immune system morphology	51645	PPIL1	OMIM:619301
HP:0010987	Abnormal cellular immune system morphology	51362	CDC40	OMIM:619302
HP:0010987	Abnormal cellular immune system morphology	2542	SLC37A4	ORPHA:79259
HP:0010987	Abnormal cellular immune system morphology	9158	FIBP	OMIM:617107
HP:0010987	Abnormal cellular immune system morphology	9158	FIBP	ORPHA:500095
HP:0010987	Abnormal cellular immune system morphology	6688	SPI1	OMIM:619707
HP:0010987	Abnormal cellular immune system morphology	51135	IRAK4	OMIM:607676
HP:0010987	Abnormal cellular immune system morphology	134218	DNAJC21	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	79631	EFL1	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	51119	SBDS	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	6729	SRP54	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	81570	CLPB	ORPHA:445038
HP:0010987	Abnormal cellular immune system morphology	50485	SMARCAL1	ORPHA:1830
HP:0010987	Abnormal cellular immune system morphology	5295	PIK3R1	OMIM:616005
HP:0010987	Abnormal cellular immune system morphology	8915	BCL10	OMIM:616098
HP:0010987	Abnormal cellular immune system morphology	6929	TCF3	OMIM:619824
HP:0010987	Abnormal cellular immune system morphology	27040	LAT	OMIM:617514
HP:0010987	Abnormal cellular immune system morphology	3978	LIG1	OMIM:619774
HP:0010988	Abnormality of the extrinsic pathway	29929	ALG6	OMIM:603147
HP:0010988	Abnormality of the extrinsic pathway	79644	SRD5A3	ORPHA:324737
HP:0010988	Abnormality of the extrinsic pathway	79644	SRD5A3	OMIM:612379
HP:0010988	Abnormality of the extrinsic pathway	5373	PMM2	ORPHA:79318
HP:0010988	Abnormality of the extrinsic pathway	5373	PMM2	OMIM:212065
HP:0010988	Abnormality of the extrinsic pathway	1798	DPAGT1	ORPHA:86309
HP:0010988	Abnormality of the extrinsic pathway	1798	DPAGT1	OMIM:608093
HP:0010988	Abnormality of the extrinsic pathway	4351	MPI	OMIM:602579
HP:0010988	Abnormality of the extrinsic pathway	8813	DPM1	OMIM:608799
HP:0010988	Abnormality of the extrinsic pathway	8813	DPM1	ORPHA:79322
HP:0010988	Abnormality of the extrinsic pathway	5236	PGM1	OMIM:614921
HP:0010988	Abnormality of the extrinsic pathway	8818	DPM2	ORPHA:329178
HP:0010988	Abnormality of the extrinsic pathway	462	SERPINC1	OMIM:613118
HP:0010988	Abnormality of the extrinsic pathway	462	SERPINC1	ORPHA:82
HP:0010988	Abnormality of the extrinsic pathway	79053	ALG8	OMIM:608104
HP:0010988	Abnormality of the extrinsic pathway	79053	ALG8	ORPHA:79325
HP:0010988	Abnormality of the extrinsic pathway	4247	MGAT2	OMIM:212066
HP:0010988	Abnormality of the extrinsic pathway	2683	B4GALT1	ORPHA:79332
HP:0010988	Abnormality of the extrinsic pathway	79087	ALG12	OMIM:607143
HP:0010988	Abnormality of the extrinsic pathway	2677	GGCX	OMIM:277450
HP:0010988	Abnormality of the extrinsic pathway	2677	GGCX	OMIM:610842
HP:0010988	Abnormality of the extrinsic pathway	2542	SLC37A4	OMIM:619525
HP:0010988	Abnormality of the extrinsic pathway	191	AHCY	ORPHA:88618
HP:0010988	Abnormality of the extrinsic pathway	2155	F7	OMIM:227500
HP:0010988	Abnormality of the extrinsic pathway	79001	VKORC1	OMIM:607473
HP:0010989	Abnormality of the intrinsic pathway	29929	ALG6	OMIM:603147
HP:0010989	Abnormality of the intrinsic pathway	29929	ALG6	ORPHA:79320
HP:0010989	Abnormality of the intrinsic pathway	4247	MGAT2	ORPHA:79329
HP:0010989	Abnormality of the intrinsic pathway	4247	MGAT2	OMIM:212066
HP:0010989	Abnormality of the intrinsic pathway	5373	PMM2	ORPHA:79318
HP:0010989	Abnormality of the intrinsic pathway	5373	PMM2	OMIM:212065
HP:0010989	Abnormality of the intrinsic pathway	4351	MPI	ORPHA:79319
HP:0010989	Abnormality of the intrinsic pathway	4351	MPI	OMIM:602579
HP:0010989	Abnormality of the intrinsic pathway	8216	LZTR1	OMIM:616564
HP:0010989	Abnormality of the intrinsic pathway	85365	ALG2	OMIM:607906
HP:0010989	Abnormality of the intrinsic pathway	2542	SLC37A4	OMIM:619525
HP:0010989	Abnormality of the intrinsic pathway	2160	F11	ORPHA:329
HP:0010989	Abnormality of the intrinsic pathway	2160	F11	OMIM:612416
HP:0010989	Abnormality of the intrinsic pathway	79053	ALG8	OMIM:608104
HP:0010989	Abnormality of the intrinsic pathway	79053	ALG8	ORPHA:79325
HP:0010989	Abnormality of the intrinsic pathway	55768	NGLY1	ORPHA:404454
HP:0010989	Abnormality of the intrinsic pathway	79087	ALG12	ORPHA:79324
HP:0010989	Abnormality of the intrinsic pathway	79644	SRD5A3	ORPHA:324737
HP:0010989	Abnormality of the intrinsic pathway	79644	SRD5A3	OMIM:612379
HP:0010989	Abnormality of the intrinsic pathway	1798	DPAGT1	ORPHA:86309
HP:0010989	Abnormality of the intrinsic pathway	1798	DPAGT1	OMIM:608093
HP:0010989	Abnormality of the intrinsic pathway	191	AHCY	ORPHA:88618
HP:0010989	Abnormality of the intrinsic pathway	8813	DPM1	OMIM:608799
HP:0010989	Abnormality of the intrinsic pathway	8813	DPM1	ORPHA:79322
HP:0010989	Abnormality of the intrinsic pathway	5236	PGM1	OMIM:614921
HP:0010989	Abnormality of the intrinsic pathway	8818	DPM2	ORPHA:329178
HP:0010989	Abnormality of the intrinsic pathway	462	SERPINC1	OMIM:613118
HP:0010989	Abnormality of the intrinsic pathway	462	SERPINC1	ORPHA:82
HP:0010989	Abnormality of the intrinsic pathway	2683	B4GALT1	ORPHA:79332
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	OMIM:306700
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:177926
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:169805
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:169802
HP:0010989	Abnormality of the intrinsic pathway	7450	VWF	OMIM:193400
HP:0010989	Abnormality of the intrinsic pathway	7450	VWF	OMIM:277480
HP:0010989	Abnormality of the intrinsic pathway	3998	LMAN1	OMIM:227300
HP:0010989	Abnormality of the intrinsic pathway	3998	LMAN1	ORPHA:35909
HP:0010989	Abnormality of the intrinsic pathway	90411	MCFD2	ORPHA:35909
HP:0010989	Abnormality of the intrinsic pathway	90411	MCFD2	OMIM:613625
HP:0010989	Abnormality of the intrinsic pathway	6654	SOS1	OMIM:610733
HP:0010989	Abnormality of the intrinsic pathway	2161	F12	ORPHA:330
HP:0010989	Abnormality of the intrinsic pathway	2161	F12	OMIM:234000
HP:0010989	Abnormality of the intrinsic pathway	5604	MAP2K1	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	5781	PTPN11	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	673	BRAF	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	3827	KNG1	OMIM:228960
HP:0010989	Abnormality of the intrinsic pathway	23545	ATP6V0A2	ORPHA:2834
HP:0010989	Abnormality of the intrinsic pathway	23545	ATP6V0A2	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	523	ATP6V1A	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	529	ATP6V1E1	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	2677	GGCX	OMIM:277450
HP:0010989	Abnormality of the intrinsic pathway	2677	GGCX	OMIM:610842
HP:0010989	Abnormality of the intrinsic pathway	79001	VKORC1	OMIM:607473
HP:0010989	Abnormality of the intrinsic pathway	2158	F9	OMIM:300807
HP:0010980	Hyperlipoproteinemia	3949	LDLR	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	3949	LDLR	OMIM:143890
HP:0010980	Hyperlipoproteinemia	255738	PCSK9	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	26119	LDLRAP1	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	338	APOB	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	338	APOB	OMIM:144010
HP:0010980	Hyperlipoproteinemia	64240	ABCG5	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	64241	ABCG8	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	9056	SLC7A7	ORPHA:470
HP:0010980	Hyperlipoproteinemia	6609	SMPD1	ORPHA:77293
HP:0010980	Hyperlipoproteinemia	6609	SMPD1	OMIM:607616
HP:0010980	Hyperlipoproteinemia	63036	CELA2A	OMIM:618620
HP:0010980	Hyperlipoproteinemia	213	ALB	OMIM:616000
HP:0010980	Hyperlipoproteinemia	3988	LIPA	OMIM:278000
HP:0010980	Hyperlipoproteinemia	336	APOA2	OMIM:143890
HP:0010980	Hyperlipoproteinemia	2053	EPHX2	OMIM:143890
HP:0010980	Hyperlipoproteinemia	10842	PPP1R17	OMIM:143890
HP:0010980	Hyperlipoproteinemia	2690	GHR	OMIM:143890
HP:0010980	Hyperlipoproteinemia	9149	DYRK1B	OMIM:615812
HP:0010980	Hyperlipoproteinemia	147007	TMEM199	OMIM:616829
HP:0010980	Hyperlipoproteinemia	84317	CCDC115	OMIM:616828
HP:0010980	Hyperlipoproteinemia	2273	FHL1	ORPHA:98863
HP:0010980	Hyperlipoproteinemia	2010	EMD	ORPHA:98863
HP:0010980	Hyperlipoproteinemia	20	ABCA2	OMIM:618808
HP:0010980	Hyperlipoproteinemia	1581	CYP7A1	ORPHA:209902
HP:0010980	Hyperlipoproteinemia	4040	LRP6	OMIM:610947
HP:0010980	Hyperlipoproteinemia	3931	LCAT	OMIM:136120
HP:0010980	Hyperlipoproteinemia	4000	LMNA	OMIM:616516
HP:0010980	Hyperlipoproteinemia	4000	LMNA	ORPHA:98855
HP:0010980	Hyperlipoproteinemia	4000	LMNA	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	84984	CEP19	OMIM:615703
HP:0010980	Hyperlipoproteinemia	10165	SLC25A13	ORPHA:247598
HP:0010980	Hyperlipoproteinemia	4023	LPL	OMIM:144250
HP:0010980	Hyperlipoproteinemia	7274	TTPA	OMIM:277460
HP:0010980	Hyperlipoproteinemia	348	APOE	ORPHA:412
HP:0010980	Hyperlipoproteinemia	79188	TMEM43	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	23345	SYNE1	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	23224	SYNE2	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	116519	APOA5	OMIM:145750
HP:0010980	Hyperlipoproteinemia	116519	APOA5	OMIM:144650
HP:0010980	Hyperlipoproteinemia	197131	UBR1	OMIM:243800
HP:0010980	Hyperlipoproteinemia	1071	CETP	ORPHA:79506
HP:0010980	Hyperlipoproteinemia	345	APOC3	ORPHA:79506
HP:0010980	Hyperlipoproteinemia	338328	GPIHBP1	OMIM:615947
HP:0010980	Hyperlipoproteinemia	3990	LIPC	OMIM:614025
HP:0010980	Hyperlipoproteinemia	3990	LIPC	ORPHA:140905
HP:0010980	Hyperlipoproteinemia	344	APOC2	OMIM:207750
HP:0007925	Lacrimal duct aplasia	2255	FGF10	OMIM:620193
HP:0007925	Lacrimal duct aplasia	2255	FGF10	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	2261	FGFR3	OMIM:620192
HP:0007925	Lacrimal duct aplasia	2261	FGFR3	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	2263	FGFR2	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	341640	FREM2	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	80144	FRAS1	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	80144	FRAS1	OMIM:219000
HP:0007925	Lacrimal duct aplasia	23426	GRIP1	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	8295	TRRAP	OMIM:618454
HP:0007925	Lacrimal duct aplasia	8085	KMT2D	OMIM:620186
HP:0007925	Lacrimal duct aplasia	2138	EYA1	OMIM:113650
HP:0007925	Lacrimal duct aplasia	6495	SIX1	OMIM:113650
HP:0007928	Abnormal flash visual evoked potentials	49855	SCAPER	OMIM:618195
HP:0007928	Abnormal flash visual evoked potentials	6310	ATXN1	ORPHA:98755
HP:0007928	Abnormal flash visual evoked potentials	2581	GALC	OMIM:245200
HP:0007928	Abnormal flash visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0007933	Broad lateral eyebrow	6651	SON	ORPHA:500150
HP:0000771	Gynecomastia	2260	FGFR1	ORPHA:432
HP:0000771	Gynecomastia	2260	FGFR1	OMIM:147950
HP:0000771	Gynecomastia	2260	FGFR1	ORPHA:478
HP:0000771	Gynecomastia	81848	SPRY4	ORPHA:432
HP:0000771	Gynecomastia	81848	SPRY4	OMIM:146110
HP:0000771	Gynecomastia	81848	SPRY4	ORPHA:478
HP:0000771	Gynecomastia	128674	PROKR2	ORPHA:432
HP:0000771	Gynecomastia	128674	PROKR2	ORPHA:478
HP:0000771	Gynecomastia	2253	FGF8	ORPHA:432
HP:0000771	Gynecomastia	2253	FGF8	ORPHA:478
HP:0000771	Gynecomastia	60675	PROK2	ORPHA:432
HP:0000771	Gynecomastia	60675	PROK2	ORPHA:478
HP:0000771	Gynecomastia	55636	CHD7	ORPHA:432
HP:0000771	Gynecomastia	55636	CHD7	ORPHA:478
HP:0000771	Gynecomastia	6870	TACR3	ORPHA:432
HP:0000771	Gynecomastia	6870	TACR3	ORPHA:478
HP:0000771	Gynecomastia	1848	DUSP6	ORPHA:432
HP:0000771	Gynecomastia	1848	DUSP6	OMIM:146110
HP:0000771	Gynecomastia	1848	DUSP6	ORPHA:478
HP:0000771	Gynecomastia	26012	NSMF	ORPHA:432
HP:0000771	Gynecomastia	26012	NSMF	OMIM:614838
HP:0000771	Gynecomastia	55717	WDR11	ORPHA:432
HP:0000771	Gynecomastia	55717	WDR11	OMIM:146110
HP:0000771	Gynecomastia	55717	WDR11	ORPHA:478
HP:0000771	Gynecomastia	9394	HS6ST1	ORPHA:432
HP:0000771	Gynecomastia	9394	HS6ST1	ORPHA:478
HP:0000771	Gynecomastia	2796	GNRH1	ORPHA:432
HP:0000771	Gynecomastia	2796	GNRH1	OMIM:146110
HP:0000771	Gynecomastia	2798	GNRHR	ORPHA:432
HP:0000771	Gynecomastia	2798	GNRHR	OMIM:146110
HP:0000771	Gynecomastia	84634	KISS1R	ORPHA:432
HP:0000771	Gynecomastia	84634	KISS1R	OMIM:614837
HP:0000771	Gynecomastia	6866	TAC3	ORPHA:432
HP:0000771	Gynecomastia	8822	FGF17	ORPHA:432
HP:0000771	Gynecomastia	8822	FGF17	OMIM:146110
HP:0000771	Gynecomastia	8822	FGF17	ORPHA:478
HP:0000771	Gynecomastia	3814	KISS1	ORPHA:432
HP:0000771	Gynecomastia	8450	CUL4B	OMIM:300354
HP:0000771	Gynecomastia	27125	AFF4	ORPHA:444077
HP:0000771	Gynecomastia	55315	SLC29A3	OMIM:602782
HP:0000771	Gynecomastia	55315	SLC29A3	ORPHA:168569
HP:0000771	Gynecomastia	56997	COQ8A	ORPHA:139485
HP:0000771	Gynecomastia	1528	CYB5A	ORPHA:90796
HP:0000771	Gynecomastia	1586	CYP17A1	ORPHA:90796
HP:0000771	Gynecomastia	1586	CYP17A1	ORPHA:90793
HP:0000771	Gynecomastia	1586	CYP17A1	OMIM:202110
HP:0000771	Gynecomastia	367	AR	ORPHA:90797
HP:0000771	Gynecomastia	367	AR	OMIM:300068
HP:0000771	Gynecomastia	367	AR	OMIM:312300
HP:0000771	Gynecomastia	367	AR	ORPHA:481
HP:0000771	Gynecomastia	367	AR	OMIM:313200
HP:0000771	Gynecomastia	4221	MEN1	ORPHA:2965
HP:0000771	Gynecomastia	64072	CDH23	ORPHA:2965
HP:0000771	Gynecomastia	64072	CDH23	ORPHA:91347
HP:0000771	Gynecomastia	9049	AIP	ORPHA:2965
HP:0000771	Gynecomastia	79639	TMEM53	OMIM:619727
HP:0000771	Gynecomastia	1363	CPE	OMIM:619326
HP:0000771	Gynecomastia	3952	LEP	ORPHA:66628
HP:0000771	Gynecomastia	3952	LEP	OMIM:614962
HP:0000771	Gynecomastia	55780	ERMARD	ORPHA:75857
HP:0000771	Gynecomastia	3284	HSD3B2	ORPHA:90791
HP:0000771	Gynecomastia	5573	PRKAR1A	ORPHA:1359
HP:0000771	Gynecomastia	50940	PDE11A	ORPHA:1359
HP:0000771	Gynecomastia	1584	CYP11B1	ORPHA:90795
HP:0000771	Gynecomastia	4204	MECP2	OMIM:300055
HP:0000771	Gynecomastia	1588	CYP19A1	OMIM:139300
HP:0000771	Gynecomastia	6794	STK11	OMIM:175200
HP:0000771	Gynecomastia	284654	RSPO1	OMIM:610644
HP:0000771	Gynecomastia	7840	ALMS1	OMIM:203800
HP:0000771	Gynecomastia	7840	ALMS1	ORPHA:64
HP:0000771	Gynecomastia	3248	HPGD	ORPHA:2796
HP:0000771	Gynecomastia	6578	SLCO2A1	ORPHA:2796
HP:0000771	Gynecomastia	10483	SEC23B	ORPHA:201
HP:0000771	Gynecomastia	5728	PTEN	ORPHA:201
HP:0000771	Gynecomastia	5728	PTEN	OMIM:158350
HP:0000771	Gynecomastia	6390	SDHB	ORPHA:201
HP:0000771	Gynecomastia	6392	SDHD	ORPHA:201
HP:0000771	Gynecomastia	6391	SDHC	ORPHA:201
HP:0000771	Gynecomastia	207	AKT1	ORPHA:201
HP:0000771	Gynecomastia	207	AKT1	OMIM:615109
HP:0000771	Gynecomastia	205717	USF3	ORPHA:201
HP:0000771	Gynecomastia	5290	PIK3CA	ORPHA:201
HP:0000771	Gynecomastia	5290	PIK3CA	OMIM:615108
HP:0000771	Gynecomastia	100144748	KLLN	ORPHA:201
HP:0000771	Gynecomastia	1583	CYP11A1	ORPHA:289548
HP:0000771	Gynecomastia	1583	CYP11A1	ORPHA:168558
HP:0000771	Gynecomastia	54476	RNF216	ORPHA:1173
HP:0000771	Gynecomastia	10908	PNPLA6	ORPHA:1173
HP:0000771	Gynecomastia	3293	HSD17B3	OMIM:264300
HP:0000771	Gynecomastia	3293	HSD17B3	ORPHA:752
HP:0000771	Gynecomastia	9723	SEMA3E	OMIM:146110
HP:0000771	Gynecomastia	558	AXL	OMIM:146110
HP:0000771	Gynecomastia	10011	SRA1	OMIM:146110
HP:0000771	Gynecomastia	285025	CCDC141	OMIM:146110
HP:0000771	Gynecomastia	285025	CCDC141	ORPHA:478
HP:0000771	Gynecomastia	389549	FEZF1	OMIM:146110
HP:0000771	Gynecomastia	389549	FEZF1	ORPHA:478
HP:0000771	Gynecomastia	3953	LEPR	ORPHA:179494
HP:0000771	Gynecomastia	208	AKT2	OMIM:240900
HP:0000771	Gynecomastia	208	AKT2	ORPHA:293964
HP:0000771	Gynecomastia	6662	SOX9	ORPHA:251510
HP:0000771	Gynecomastia	6845	VAMP7	ORPHA:251510
HP:0000771	Gynecomastia	51741	WWOX	ORPHA:251510
HP:0000771	Gynecomastia	4214	MAP3K1	ORPHA:251510
HP:0000771	Gynecomastia	2516	NR5A1	ORPHA:251510
HP:0000771	Gynecomastia	7490	WT1	ORPHA:251510
HP:0000771	Gynecomastia	58524	DMRT3	ORPHA:251510
HP:0000771	Gynecomastia	57647	DHX37	ORPHA:251510
HP:0000771	Gynecomastia	6736	SRY	ORPHA:251510
HP:0000771	Gynecomastia	6736	SRY	OMIM:400045
HP:0000771	Gynecomastia	6736	SRY	ORPHA:1772
HP:0000771	Gynecomastia	23414	ZFPM2	ORPHA:251510
HP:0000771	Gynecomastia	190	NR0B1	ORPHA:251510
HP:0000771	Gynecomastia	2626	GATA4	ORPHA:251510
HP:0000771	Gynecomastia	1589	CYP21A2	OMIM:201910
HP:0000771	Gynecomastia	55131	RBM28	ORPHA:157954
HP:0000771	Gynecomastia	55131	RBM28	OMIM:612079
HP:0000771	Gynecomastia	23347	SMCHD1	ORPHA:2250
HP:0000771	Gynecomastia	6711	SPTBN1	OMIM:619475
HP:0000771	Gynecomastia	285590	SH3PXD2B	ORPHA:137834
HP:0000771	Gynecomastia	11128	POLR3A	OMIM:264090
HP:0000771	Gynecomastia	11128	POLR3A	ORPHA:3455
HP:0000771	Gynecomastia	3675	ITGA3	OMIM:614748
HP:0000771	Gynecomastia	23137	SMC5	OMIM:620185
HP:0000771	Gynecomastia	26137	ZBTB20	OMIM:259050
HP:0000771	Gynecomastia	26137	ZBTB20	ORPHA:3042
HP:0000771	Gynecomastia	3972	LHB	OMIM:228300
HP:0000771	Gynecomastia	6942	TCF20	OMIM:618430
HP:0000771	Gynecomastia	81887	LAS1L	ORPHA:3459
HP:0000771	Gynecomastia	81887	LAS1L	OMIM:309585
HP:0000771	Gynecomastia	55869	HDAC8	ORPHA:3459
HP:0000771	Gynecomastia	84295	PHF6	OMIM:301900
HP:0000771	Gynecomastia	84295	PHF6	ORPHA:127
HP:0000771	Gynecomastia	2332	FMR1	ORPHA:261483
HP:0000771	Gynecomastia	654	BMP6	ORPHA:465508
HP:0000771	Gynecomastia	3077	HFE	ORPHA:465508
HP:0000771	Gynecomastia	3730	ANOS1	OMIM:308700
HP:0000771	Gynecomastia	3730	ANOS1	ORPHA:478
HP:0000771	Gynecomastia	5696	PSMB8	OMIM:256040
HP:0000771	Gynecomastia	1674	DES	OMIM:181400
HP:0000771	Gynecomastia	10371	SEMA3A	ORPHA:478
HP:0000771	Gynecomastia	23767	FLRT3	ORPHA:478
HP:0000771	Gynecomastia	79625	NDNF	ORPHA:478
HP:0000771	Gynecomastia	1630	DCC	ORPHA:478
HP:0000771	Gynecomastia	54756	IL17RD	ORPHA:478
HP:0000771	Gynecomastia	6663	SOX10	ORPHA:478
HP:0000771	Gynecomastia	8820	HESX1	ORPHA:478
HP:0000777	Abnormality of the thymus	57724	EPG5	OMIM:242840
HP:0000777	Abnormality of the thymus	80144	FRAS1	OMIM:219000
HP:0000777	Abnormality of the thymus	137814	NKX2-6	ORPHA:3384
HP:0000777	Abnormality of the thymus	23129	PLXND1	ORPHA:3384
HP:0000777	Abnormality of the thymus	57217	TTC7A	OMIM:243150
HP:0000777	Abnormality of the thymus	57217	TTC7A	ORPHA:436252
HP:0000777	Abnormality of the thymus	55388	MCM10	OMIM:619313
HP:0000777	Abnormality of the thymus	204	AK2	OMIM:267500
HP:0000777	Abnormality of the thymus	84876	ORAI1	OMIM:612782
HP:0000777	Abnormality of the thymus	6097	RORC	OMIM:616622
HP:0000777	Abnormality of the thymus	8425	LTBP4	OMIM:613177
HP:0000777	Abnormality of the thymus	92579	G6PC3	OMIM:612541
HP:0000777	Abnormality of the thymus	5297	PI4KA	ORPHA:436252
HP:0000777	Abnormality of the thymus	7454	WAS	ORPHA:906
HP:0000777	Abnormality of the thymus	7456	WIPF1	ORPHA:906
HP:0000777	Abnormality of the thymus	11128	POLR3A	OMIM:264090
HP:0000777	Abnormality of the thymus	5830	PEX5	OMIM:214110
HP:0000777	Abnormality of the thymus	1312	COMT	ORPHA:567
HP:0000777	Abnormality of the thymus	221037	JMJD1C	ORPHA:567
HP:0000777	Abnormality of the thymus	2812	GP1BB	ORPHA:567
HP:0000777	Abnormality of the thymus	6239	RREB1	ORPHA:567
HP:0000777	Abnormality of the thymus	6899	TBX1	ORPHA:567
HP:0000777	Abnormality of the thymus	6899	TBX1	OMIM:188400
HP:0000777	Abnormality of the thymus	7290	HIRA	ORPHA:567
HP:0000777	Abnormality of the thymus	9632	SEC24C	ORPHA:567
HP:0000777	Abnormality of the thymus	7353	UFD1	ORPHA:567
HP:0000777	Abnormality of the thymus	421	ARVCF	ORPHA:567
HP:0000777	Abnormality of the thymus	5896	RAG1	OMIM:603554
HP:0000777	Abnormality of the thymus	5897	RAG2	OMIM:603554
HP:0000777	Abnormality of the thymus	84172	POLR1B	ORPHA:861
HP:0000777	Abnormality of the thymus	9533	POLR1C	ORPHA:861
HP:0000777	Abnormality of the thymus	51082	POLR1D	ORPHA:861
HP:0000777	Abnormality of the thymus	6949	TCOF1	ORPHA:861
HP:0000777	Abnormality of the thymus	91754	NEK9	OMIM:617022
HP:0000777	Abnormality of the thymus	56160	NSMCE3	OMIM:617241
HP:0000777	Abnormality of the thymus	3561	IL2RG	OMIM:300400
HP:0000777	Abnormality of the thymus	8626	TP63	ORPHA:1896
HP:0000777	Abnormality of the thymus	9652	SKIC3	ORPHA:84064
HP:0000777	Abnormality of the thymus	6499	SKIC2	ORPHA:84064
HP:0000777	Abnormality of the thymus	341640	FREM2	OMIM:617666
HP:0000777	Abnormality of the thymus	472	ATM	OMIM:208900
HP:0000777	Abnormality of the thymus	1161	ERCC8	OMIM:216400
HP:0000777	Abnormality of the thymus	100	ADA	OMIM:102700
HP:0000777	Abnormality of the thymus	6909	TBX2	OMIM:618223
HP:0000777	Abnormality of the thymus	8085	KMT2D	OMIM:620186
HP:0000777	Abnormality of the thymus	64421	DCLRE1C	OMIM:602450
HP:0000777	Abnormality of the thymus	55636	CHD7	OMIM:214800
HP:0000777	Abnormality of the thymus	118429	ANTXR2	ORPHA:2176
HP:0000777	Abnormality of the thymus	199857	ALG14	OMIM:619036
HP:0000777	Abnormality of the thymus	4524	MTHFR	ORPHA:563609
HP:0000777	Abnormality of the thymus	57216	VANGL2	ORPHA:563609
HP:0000777	Abnormality of the thymus	7020	TFAP2A	OMIM:113620
HP:0000777	Abnormality of the thymus	5728	PTEN	ORPHA:744
HP:0000777	Abnormality of the thymus	207	AKT1	ORPHA:744
HP:0000777	Abnormality of the thymus	4221	MEN1	ORPHA:652
HP:0000777	Abnormality of the thymus	1027	CDKN1B	ORPHA:652
HP:0000777	Abnormality of the thymus	1027	CDKN1B	ORPHA:276152
HP:0000777	Abnormality of the thymus	1026	CDKN1A	ORPHA:652
HP:0000777	Abnormality of the thymus	1030	CDKN2B	ORPHA:652
HP:0000777	Abnormality of the thymus	1031	CDKN2C	ORPHA:652
HP:0000778	Hypoplasia of the thymus	137814	NKX2-6	ORPHA:3384
HP:0000778	Hypoplasia of the thymus	23129	PLXND1	ORPHA:3384
HP:0000778	Hypoplasia of the thymus	57217	TTC7A	OMIM:243150
HP:0000778	Hypoplasia of the thymus	57217	TTC7A	ORPHA:436252
HP:0000778	Hypoplasia of the thymus	55388	MCM10	OMIM:619313
HP:0000778	Hypoplasia of the thymus	204	AK2	OMIM:267500
HP:0000778	Hypoplasia of the thymus	84876	ORAI1	OMIM:612782
HP:0000778	Hypoplasia of the thymus	6097	RORC	OMIM:616622
HP:0000778	Hypoplasia of the thymus	8425	LTBP4	OMIM:613177
HP:0000778	Hypoplasia of the thymus	92579	G6PC3	OMIM:612541
HP:0000778	Hypoplasia of the thymus	5297	PI4KA	ORPHA:436252
HP:0000778	Hypoplasia of the thymus	7454	WAS	ORPHA:906
HP:0000778	Hypoplasia of the thymus	7456	WIPF1	ORPHA:906
HP:0000778	Hypoplasia of the thymus	11128	POLR3A	OMIM:264090
HP:0000778	Hypoplasia of the thymus	5830	PEX5	OMIM:214110
HP:0000778	Hypoplasia of the thymus	1312	COMT	ORPHA:567
HP:0000778	Hypoplasia of the thymus	221037	JMJD1C	ORPHA:567
HP:0000778	Hypoplasia of the thymus	2812	GP1BB	ORPHA:567
HP:0000778	Hypoplasia of the thymus	6239	RREB1	ORPHA:567
HP:0000778	Hypoplasia of the thymus	6899	TBX1	ORPHA:567
HP:0000778	Hypoplasia of the thymus	6899	TBX1	OMIM:188400
HP:0000778	Hypoplasia of the thymus	7290	HIRA	ORPHA:567
HP:0000778	Hypoplasia of the thymus	9632	SEC24C	ORPHA:567
HP:0000778	Hypoplasia of the thymus	7353	UFD1	ORPHA:567
HP:0000778	Hypoplasia of the thymus	421	ARVCF	ORPHA:567
HP:0000778	Hypoplasia of the thymus	64421	DCLRE1C	OMIM:603554
HP:0000778	Hypoplasia of the thymus	5896	RAG1	OMIM:603554
HP:0000778	Hypoplasia of the thymus	5897	RAG2	OMIM:603554
HP:0000778	Hypoplasia of the thymus	84172	POLR1B	ORPHA:861
HP:0000778	Hypoplasia of the thymus	9533	POLR1C	ORPHA:861
HP:0000778	Hypoplasia of the thymus	51082	POLR1D	ORPHA:861
HP:0000778	Hypoplasia of the thymus	6949	TCOF1	ORPHA:861
HP:0000778	Hypoplasia of the thymus	91754	NEK9	OMIM:617022
HP:0000778	Hypoplasia of the thymus	56160	NSMCE3	OMIM:617241
HP:0000778	Hypoplasia of the thymus	3561	IL2RG	OMIM:300400
HP:0000778	Hypoplasia of the thymus	8626	TP63	ORPHA:1896
HP:0000778	Hypoplasia of the thymus	9652	SKIC3	ORPHA:84064
HP:0000778	Hypoplasia of the thymus	6499	SKIC2	ORPHA:84064
HP:0000778	Hypoplasia of the thymus	341640	FREM2	OMIM:617666
HP:0000778	Hypoplasia of the thymus	472	ATM	OMIM:208900
HP:0010991	Abnormal morphology of the abdominal musculature	79158	GNPTAB	ORPHA:576
HP:0010991	Abnormal morphology of the abdominal musculature	79158	GNPTAB	OMIM:252500
HP:0010991	Abnormal morphology of the abdominal musculature	64840	PORCN	OMIM:305600
HP:0010991	Abnormal morphology of the abdominal musculature	64840	PORCN	ORPHA:2092
HP:0010991	Abnormal morphology of the abdominal musculature	2294	FOXF1	OMIM:265380
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	10584	COLEC10	OMIM:248340
HP:0010991	Abnormal morphology of the abdominal musculature	10584	COLEC10	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	1028	CDKN1C	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	10984	KCNQ1OT1	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	3481	IGF2	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	3481	IGF2	ORPHA:231140
HP:0010991	Abnormal morphology of the abdominal musculature	3784	KCNQ1	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	145173	B3GLCT	OMIM:261540
HP:0010991	Abnormal morphology of the abdominal musculature	5648	MASP1	OMIM:257920
HP:0010991	Abnormal morphology of the abdominal musculature	5648	MASP1	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	2146	EZH2	OMIM:277590
HP:0010991	Abnormal morphology of the abdominal musculature	78989	COLEC11	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	78989	COLEC11	OMIM:265050
HP:0010991	Abnormal morphology of the abdominal musculature	9091	PIGQ	OMIM:618548
HP:0010991	Abnormal morphology of the abdominal musculature	63916	ELMO2	OMIM:606893
HP:0010991	Abnormal morphology of the abdominal musculature	283120	H19	ORPHA:231140
HP:0010991	Abnormal morphology of the abdominal musculature	113189	CHST14	OMIM:601776
HP:0010991	Abnormal morphology of the abdominal musculature	55553	SOX6	OMIM:618971
HP:0010991	Abnormal morphology of the abdominal musculature	283489	CHAMP1	OMIM:616579
HP:0010991	Abnormal morphology of the abdominal musculature	2475	MTOR	ORPHA:457485
HP:0010991	Abnormal morphology of the abdominal musculature	2475	MTOR	OMIM:616638
HP:0010991	Abnormal morphology of the abdominal musculature	55012	PPP2R3C	OMIM:618419
HP:0010991	Abnormal morphology of the abdominal musculature	93627	TBCK	ORPHA:488632
HP:0010991	Abnormal morphology of the abdominal musculature	2719	GPC3	OMIM:312870
HP:0010991	Abnormal morphology of the abdominal musculature	2239	GPC4	OMIM:312870
HP:0010991	Abnormal morphology of the abdominal musculature	23729	SHPK	ORPHA:440713
HP:0010991	Abnormal morphology of the abdominal musculature	1131	CHRM3	ORPHA:2970
HP:0010991	Abnormal morphology of the abdominal musculature	1131	CHRM3	OMIM:100100
HP:0010991	Abnormal morphology of the abdominal musculature	129563	DIS3L2	OMIM:267000
HP:0010991	Abnormal morphology of the abdominal musculature	29957	SLC25A24	OMIM:612289
HP:0010991	Abnormal morphology of the abdominal musculature	4126	MANBA	ORPHA:118
HP:0010991	Abnormal morphology of the abdominal musculature	538	ATP7A	ORPHA:565
HP:0010991	Abnormal morphology of the abdominal musculature	1281	COL3A1	ORPHA:286
HP:0010991	Abnormal morphology of the abdominal musculature	6023	RMRP	ORPHA:175
HP:0010991	Abnormal morphology of the abdominal musculature	72	ACTG2	ORPHA:2604
HP:0010991	Abnormal morphology of the abdominal musculature	2317	FLNB	ORPHA:1263
HP:0010991	Abnormal morphology of the abdominal musculature	2200	FBN1	ORPHA:2462
HP:0010991	Abnormal morphology of the abdominal musculature	6497	SKI	ORPHA:2462
HP:0010991	Abnormal morphology of the abdominal musculature	22800	RRAS2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	867	CBL	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	8216	LZTR1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6016	RIT1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6237	RRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5894	RAF1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5894	RAF1	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	22808	MRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	3845	KRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	200734	SPRED2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	4893	NRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6654	SOS1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6655	SOS2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5781	PTPN11	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5781	PTPN11	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	5922	RASA2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	4621	MYH3	ORPHA:2990
HP:0010991	Abnormal morphology of the abdominal musculature	1146	CHRNG	ORPHA:2990
HP:0010991	Abnormal morphology of the abdominal musculature	10225	CD96	ORPHA:1308
HP:0010991	Abnormal morphology of the abdominal musculature	57192	MCOLN1	ORPHA:578
HP:0010991	Abnormal morphology of the abdominal musculature	673	BRAF	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	64131	XYLT1	ORPHA:1425
HP:0010991	Abnormal morphology of the abdominal musculature	124583	CANT1	ORPHA:1425
HP:0010991	Abnormal morphology of the abdominal musculature	55790	CSGALNACT1	ORPHA:1425
HP:0010992	Stress urinary incontinence	4854	NOTCH3	ORPHA:136
HP:0010993	Abnormal cerebral subcortex morphology	87178	PNPT1	ORPHA:319514
HP:0010993	Abnormal cerebral subcortex morphology	9342	SNAP29	OMIM:609528
HP:0010993	Abnormal cerebral subcortex morphology	9342	SNAP29	ORPHA:66631
HP:0010993	Abnormal cerebral subcortex morphology	5528	PPP2R5D	ORPHA:457279
HP:0010993	Abnormal cerebral subcortex morphology	51259	TMEM216	OMIM:608091
HP:0010993	Abnormal cerebral subcortex morphology	5048	PAFAH1B1	ORPHA:95232
HP:0010993	Abnormal cerebral subcortex morphology	79848	CSPP1	ORPHA:397715
HP:0010993	Abnormal cerebral subcortex morphology	4297	KMT2A	ORPHA:319182
HP:0010993	Abnormal cerebral subcortex morphology	27245	AHDC1	ORPHA:412069
HP:0010993	Abnormal cerebral subcortex morphology	55904	KMT2E	OMIM:618512
HP:0010993	Abnormal cerebral subcortex morphology	3737	KCNA2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	8120	AP3B2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	523	ATP6V1A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	10991	SLC38A3	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51343	FZR1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	22906	TRAK1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2566	GABRG2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	1917	EEF1A2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2561	GABRB2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	8831	SYNGAP1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	7532	YWHAG	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	79876	UBA5	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	6328	SCN3A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2558	GABRA5	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	781	CACNA2D1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2906	GRIN2D	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	116150	NUS1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	10659	CELF2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	774	CACNA1B	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51741	WWOX	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23334	SZT2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51412	ACTL6B	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	348980	HCN1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	6506	SLC1A2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2258	FGF13	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	3745	KCNB1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	284111	SLC13A5	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	25977	NECAP1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	16	AARS1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	6334	SCN8A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	22866	CNKSR2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	9568	GABBR2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2555	GABRA2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	55152	DALRD3	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	773	CACNA1A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	26999	CYFIP2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	4915	NTRK2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	25973	PARS2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23097	CDK19	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	64801	ARV1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	79947	DHDDS	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2257	FGF12	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	5530	PPP3CA	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2581	GALC	ORPHA:206448
HP:0010993	Abnormal cerebral subcortex morphology	8241	RBM10	ORPHA:2886
HP:0010993	Abnormal cerebral subcortex morphology	267010	RNU12	ORPHA:512260
HP:0010993	Abnormal cerebral subcortex morphology	3423	IDS	ORPHA:217093
HP:0010993	Abnormal cerebral subcortex morphology	3476	IGBP1	OMIM:300472
HP:0010993	Abnormal cerebral subcortex morphology	3476	IGBP1	ORPHA:52055
HP:0010993	Abnormal cerebral subcortex morphology	11113	CIT	OMIM:617090
HP:0010993	Abnormal cerebral subcortex morphology	11113	CIT	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	7528	YY1	ORPHA:506358
HP:0010993	Abnormal cerebral subcortex morphology	23141	ANKLE2	OMIM:616681
HP:0010993	Abnormal cerebral subcortex morphology	23141	ANKLE2	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	23019	CNOT1	OMIM:618500
HP:0010993	Abnormal cerebral subcortex morphology	23019	CNOT1	ORPHA:556955
HP:0010993	Abnormal cerebral subcortex morphology	1024	CDK8	OMIM:618748
HP:0010993	Abnormal cerebral subcortex morphology	23556	PIGN	ORPHA:2059
HP:0010993	Abnormal cerebral subcortex morphology	81857	MED25	OMIM:616449
HP:0010993	Abnormal cerebral subcortex morphology	81857	MED25	ORPHA:464738
HP:0010993	Abnormal cerebral subcortex morphology	4774	NFIA	OMIM:613735
HP:0010993	Abnormal cerebral subcortex morphology	10992	SF3B2	OMIM:164210
HP:0010993	Abnormal cerebral subcortex morphology	2731	GLDC	OMIM:605899
HP:0010993	Abnormal cerebral subcortex morphology	275	AMT	OMIM:605899
HP:0010993	Abnormal cerebral subcortex morphology	3190	HNRNPK	ORPHA:453504
HP:0010993	Abnormal cerebral subcortex morphology	3190	HNRNPK	ORPHA:352665
HP:0010993	Abnormal cerebral subcortex morphology	55112	DYNC2I1	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	57560	IFT80	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	57539	WDR35	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	79659	DYNC2H1	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	79659	DYNC2H1	OMIM:613091
HP:0010993	Abnormal cerebral subcortex morphology	89891	DYNC2I2	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	4281	MID1	OMIM:300000
HP:0010993	Abnormal cerebral subcortex morphology	4281	MID1	ORPHA:2745
HP:0010993	Abnormal cerebral subcortex morphology	2073	ERCC5	OMIM:616570
HP:0010993	Abnormal cerebral subcortex morphology	116931	MED12L	OMIM:618872
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	OMIM:200990
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	OMIM:607131
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	OMIM:614120
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	ORPHA:2189
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	ORPHA:166024
HP:0010993	Abnormal cerebral subcortex morphology	9578	CDC42BPB	OMIM:619841
HP:0010993	Abnormal cerebral subcortex morphology	1630	DCC	OMIM:617542
HP:0010993	Abnormal cerebral subcortex morphology	1630	DCC	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	1630	DCC	OMIM:157600
HP:0010993	Abnormal cerebral subcortex morphology	6576	SLC25A1	OMIM:618197
HP:0010993	Abnormal cerebral subcortex morphology	23322	RPGRIP1L	ORPHA:220497
HP:0010993	Abnormal cerebral subcortex morphology	4867	NPHP1	ORPHA:220497
HP:0010993	Abnormal cerebral subcortex morphology	65062	TMEM237	ORPHA:220497
HP:0010993	Abnormal cerebral subcortex morphology	22858	CILK1	OMIM:612651
HP:0010993	Abnormal cerebral subcortex morphology	56623	INPP5E	ORPHA:220493
HP:0010993	Abnormal cerebral subcortex morphology	153241	CEP120	ORPHA:220493
HP:0010993	Abnormal cerebral subcortex morphology	54903	MKS1	ORPHA:220493
HP:0010993	Abnormal cerebral subcortex morphology	54903	MKS1	OMIM:249000
HP:0010993	Abnormal cerebral subcortex morphology	95681	CEP41	ORPHA:220493
HP:0010993	Abnormal cerebral subcortex morphology	80055	PGAP1	OMIM:615802
HP:0010993	Abnormal cerebral subcortex morphology	80055	PGAP1	ORPHA:401820
HP:0010993	Abnormal cerebral subcortex morphology	26153	KIF26A	OMIM:620156
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:2396
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	OMIM:147950
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	OMIM:613001
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	OMIM:615465
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	OMIM:269160
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	OMIM:157170
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	OMIM:269160
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	51684	SUFU	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:280200
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	OMIM:614226
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	ORPHA:87
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	OMIM:123790
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	OMIM:101200
HP:0010993	Abnormal cerebral subcortex morphology	56992	KIF15	ORPHA:261323
HP:0010993	Abnormal cerebral subcortex morphology	51360	MBTPS2	ORPHA:2273
HP:0010993	Abnormal cerebral subcortex morphology	284058	KANSL1	ORPHA:363958
HP:0010993	Abnormal cerebral subcortex morphology	284058	KANSL1	ORPHA:363965
HP:0010993	Abnormal cerebral subcortex morphology	1020	CDK5	OMIM:616342
HP:0010993	Abnormal cerebral subcortex morphology	5173	PDYN	OMIM:610245
HP:0010993	Abnormal cerebral subcortex morphology	55681	SCYL2	OMIM:618766
HP:0010993	Abnormal cerebral subcortex morphology	3845	KRAS	ORPHA:2396
HP:0010993	Abnormal cerebral subcortex morphology	3845	KRAS	ORPHA:3339
HP:0010993	Abnormal cerebral subcortex morphology	2018	EMX2	OMIM:269160
HP:0010993	Abnormal cerebral subcortex morphology	546	ATRX	ORPHA:847
HP:0010993	Abnormal cerebral subcortex morphology	7080	NKX2-1	ORPHA:209905
HP:0010993	Abnormal cerebral subcortex morphology	6597	SMARCA4	OMIM:614609
HP:0010993	Abnormal cerebral subcortex morphology	6597	SMARCA4	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	9401	RECQL4	OMIM:218600
HP:0010993	Abnormal cerebral subcortex morphology	4524	MTHFR	ORPHA:563612
HP:0010993	Abnormal cerebral subcortex morphology	57216	VANGL2	ORPHA:563612
HP:0010993	Abnormal cerebral subcortex morphology	171023	ASXL1	ORPHA:97297
HP:0010993	Abnormal cerebral subcortex morphology	171023	ASXL1	OMIM:605039
HP:0010993	Abnormal cerebral subcortex morphology	9896	FIG4	ORPHA:3472
HP:0010993	Abnormal cerebral subcortex morphology	9896	FIG4	OMIM:216340
HP:0010993	Abnormal cerebral subcortex morphology	55697	VAC14	ORPHA:3472
HP:0010993	Abnormal cerebral subcortex morphology	10815	CPLX1	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	10815	CPLX1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	54872	PIGG	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	7469	NELFA	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	1487	CTBP1	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	1487	CTBP1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	3954	LETM1	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	3954	LETM1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	7468	NSD2	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	7468	NSD2	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	22872	SEC31A	OMIM:618651
HP:0010993	Abnormal cerebral subcortex morphology	55012	PPP2R3C	OMIM:618419
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:93926
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:93924
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	51021	MRPS16	OMIM:610498
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	OMIM:301043
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	79731	NARS2	OMIM:616239
HP:0010993	Abnormal cerebral subcortex morphology	6602	SMARCD1	OMIM:618779
HP:0010993	Abnormal cerebral subcortex morphology	6602	SMARCD1	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	55623	THUMPD1	OMIM:619989
HP:0010993	Abnormal cerebral subcortex morphology	53834	FGFRL1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	26227	PHGDH	OMIM:256520
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	OMIM:214150
HP:0010993	Abnormal cerebral subcortex morphology	3192	HNRNPU	ORPHA:238769
HP:0010993	Abnormal cerebral subcortex morphology	9653	HS2ST1	OMIM:619194
HP:0010993	Abnormal cerebral subcortex morphology	129563	DIS3L2	OMIM:267000
HP:0010993	Abnormal cerebral subcortex morphology	1947	EFNB1	OMIM:304110
HP:0010993	Abnormal cerebral subcortex morphology	5518	PPP2R1A	OMIM:616362
HP:0010993	Abnormal cerebral subcortex morphology	5518	PPP2R1A	ORPHA:457284
HP:0010993	Abnormal cerebral subcortex morphology	23512	SUZ12	OMIM:618786
HP:0010993	Abnormal cerebral subcortex morphology	6608	SMO	OMIM:601707
HP:0010993	Abnormal cerebral subcortex morphology	6608	SMO	ORPHA:1553
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	OMIM:300887
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	3052	HCCS	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	3052	HCCS	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	OMIM:300952
HP:0010993	Abnormal cerebral subcortex morphology	55773	TBC1D23	OMIM:617695
HP:0010993	Abnormal cerebral subcortex morphology	5626	PROP1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5626	PROP1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	89884	LHX4	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	89884	LHX4	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8022	LHX3	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5449	POU1F1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5449	POU1F1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	OMIM:182230
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	4519	MT-CYB	ORPHA:137675
HP:0010993	Abnormal cerebral subcortex morphology	5828	PEX2	OMIM:614866
HP:0010993	Abnormal cerebral subcortex morphology	5590	PRKCZ	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	2563	GABRD	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	23013	SPEN	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	23013	SPEN	OMIM:619312
HP:0010993	Abnormal cerebral subcortex morphology	8510	MMP23B	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	7798	LUZP1	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	6497	SKI	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	10630	PDPN	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	3339	HSPG2	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	10277	UBE4B	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	8514	KCNAB2	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	473	RERE	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	63976	PRDM16	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	54897	CASZ1	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	11128	POLR3A	OMIM:264090
HP:0010993	Abnormal cerebral subcortex morphology	11128	POLR3A	ORPHA:3455
HP:0010993	Abnormal cerebral subcortex morphology	6558	SLC12A2	OMIM:619083
HP:0010993	Abnormal cerebral subcortex morphology	10236	HNRNPR	OMIM:620073
HP:0010993	Abnormal cerebral subcortex morphology	3170	FOXA2	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:990
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	83479	DDX59	ORPHA:2919
HP:0010993	Abnormal cerebral subcortex morphology	83479	DDX59	OMIM:174300
HP:0010993	Abnormal cerebral subcortex morphology	11041	B4GAT1	OMIM:615287
HP:0010993	Abnormal cerebral subcortex morphology	11041	B4GAT1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	113179	ADAT3	OMIM:615286
HP:0010993	Abnormal cerebral subcortex morphology	113179	ADAT3	ORPHA:363528
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	OMIM:616258
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	OMIM:617914
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	8481	OFD1	OMIM:311200
HP:0010993	Abnormal cerebral subcortex morphology	8481	OFD1	ORPHA:2750
HP:0010993	Abnormal cerebral subcortex morphology	10472	ZBTB18	OMIM:612337
HP:0010993	Abnormal cerebral subcortex morphology	57688	ZSWIM6	OMIM:603671
HP:0010993	Abnormal cerebral subcortex morphology	57688	ZSWIM6	ORPHA:1827
HP:0010993	Abnormal cerebral subcortex morphology	2271	FH	OMIM:606812
HP:0010993	Abnormal cerebral subcortex morphology	57724	EPG5	OMIM:242840
HP:0010993	Abnormal cerebral subcortex morphology	57724	EPG5	ORPHA:1493
HP:0010993	Abnormal cerebral subcortex morphology	63895	PIEZO2	OMIM:248700
HP:0010993	Abnormal cerebral subcortex morphology	63895	PIEZO2	ORPHA:2461
HP:0010993	Abnormal cerebral subcortex morphology	2239	GPC4	ORPHA:373
HP:0010993	Abnormal cerebral subcortex morphology	2239	GPC4	OMIM:312870
HP:0010993	Abnormal cerebral subcortex morphology	2719	GPC3	ORPHA:373
HP:0010993	Abnormal cerebral subcortex morphology	2719	GPC3	OMIM:312870
HP:0010993	Abnormal cerebral subcortex morphology	197258	FCSK	OMIM:618324
HP:0010993	Abnormal cerebral subcortex morphology	10463	SLC30A9	OMIM:617595
HP:0010993	Abnormal cerebral subcortex morphology	8565	YARS1	OMIM:619418
HP:0010993	Abnormal cerebral subcortex morphology	2678	GGT1	OMIM:231950
HP:0010993	Abnormal cerebral subcortex morphology	64919	BCL11B	OMIM:617237
HP:0010993	Abnormal cerebral subcortex morphology	11023	VAX1	OMIM:614402
HP:0010993	Abnormal cerebral subcortex morphology	257	ALX3	OMIM:136760
HP:0010993	Abnormal cerebral subcortex morphology	51645	PPIL1	OMIM:619301
HP:0010993	Abnormal cerebral subcortex morphology	8621	CDK13	OMIM:617360
HP:0010993	Abnormal cerebral subcortex morphology	5881	RAC3	OMIM:618577
HP:0010993	Abnormal cerebral subcortex morphology	60529	ALX4	ORPHA:228390
HP:0010993	Abnormal cerebral subcortex morphology	55280	CWF19L1	ORPHA:453521
HP:0010993	Abnormal cerebral subcortex morphology	9851	KIAA0753	OMIM:617127
HP:0010993	Abnormal cerebral subcortex morphology	164	AP1G1	OMIM:619548
HP:0010993	Abnormal cerebral subcortex morphology	1801	DPH1	ORPHA:459061
HP:0010993	Abnormal cerebral subcortex morphology	22827	PUF60	ORPHA:508498
HP:0010993	Abnormal cerebral subcortex morphology	5888	RAD51	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	10126	DNAL4	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	9423	NTN1	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	4558	MT-TF	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4572	MT-TQ	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4512	MT-CO1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4513	MT-CO2	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4514	MT-CO3	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4578	MT-TW	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4540	MT-ND5	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4541	MT-ND6	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4535	MT-ND1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4538	MT-ND4	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4567	MT-TL1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4574	MT-TS1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4575	MT-TS2	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4564	MT-TH	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	56896	DPYSL5	OMIM:619435
HP:0010993	Abnormal cerebral subcortex morphology	2879	GPX4	ORPHA:93317
HP:0010993	Abnormal cerebral subcortex morphology	5396	PRRX1	OMIM:202650
HP:0010993	Abnormal cerebral subcortex morphology	5396	PRRX1	ORPHA:990
HP:0010993	Abnormal cerebral subcortex morphology	7545	ZIC1	OMIM:616602
HP:0010993	Abnormal cerebral subcortex morphology	7545	ZIC1	OMIM:618736
HP:0010993	Abnormal cerebral subcortex morphology	79813	EHMT1	ORPHA:96147
HP:0010993	Abnormal cerebral subcortex morphology	7473	WNT3	ORPHA:3301
HP:0010993	Abnormal cerebral subcortex morphology	340419	RSPO2	ORPHA:3301
HP:0010993	Abnormal cerebral subcortex morphology	55593	OTUD5	OMIM:301056
HP:0010993	Abnormal cerebral subcortex morphology	7707	ZNF148	OMIM:617260
HP:0010993	Abnormal cerebral subcortex morphology	1436	CSF1R	OMIM:618476
HP:0010993	Abnormal cerebral subcortex morphology	5649	RELN	ORPHA:89844
HP:0010993	Abnormal cerebral subcortex morphology	54820	NDE1	ORPHA:89844
HP:0010993	Abnormal cerebral subcortex morphology	54820	NDE1	OMIM:605013
HP:0010993	Abnormal cerebral subcortex morphology	54820	NDE1	OMIM:614019
HP:0010993	Abnormal cerebral subcortex morphology	23030	KDM4B	OMIM:619320
HP:0010993	Abnormal cerebral subcortex morphology	1806	DPYD	OMIM:274270
HP:0010993	Abnormal cerebral subcortex morphology	55215	FANCI	OMIM:609053
HP:0010993	Abnormal cerebral subcortex morphology	27185	DISC1	ORPHA:171703
HP:0010993	Abnormal cerebral subcortex morphology	8320	EOMES	ORPHA:171703
HP:0010993	Abnormal cerebral subcortex morphology	79133	NDUFAF5	OMIM:618238
HP:0010993	Abnormal cerebral subcortex morphology	55997	CFC1	OMIM:605376
HP:0010993	Abnormal cerebral subcortex morphology	9215	LARGE1	OMIM:236670
HP:0010993	Abnormal cerebral subcortex morphology	9215	LARGE1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	2218	FKTN	OMIM:236670
HP:0010993	Abnormal cerebral subcortex morphology	2218	FKTN	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	2218	FKTN	OMIM:253800
HP:0010993	Abnormal cerebral subcortex morphology	84892	POMGNT2	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	148789	B3GALNT2	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	1282	COL4A1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	10329	RXYLT1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	1605	DAG1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	ORPHA:77298
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	OMIM:206900
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	4784	NFIX	OMIM:602535
HP:0010993	Abnormal cerebral subcortex morphology	63925	ZNF335	OMIM:615095
HP:0010993	Abnormal cerebral subcortex morphology	22930	RAB3GAP1	OMIM:600118
HP:0010993	Abnormal cerebral subcortex morphology	2657	GDF1	OMIM:208530
HP:0010993	Abnormal cerebral subcortex morphology	85358	SHANK3	ORPHA:48652
HP:0010993	Abnormal cerebral subcortex morphology	6598	SMARCB1	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	6659	SOX4	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	8289	ARID1A	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	5977	DPF2	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	196528	ARID2	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	6605	SMARCE1	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	6664	SOX11	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	5831	PYCR1	OMIM:612940
HP:0010993	Abnormal cerebral subcortex morphology	29920	PYCR2	ORPHA:481152
HP:0010993	Abnormal cerebral subcortex morphology	29920	PYCR2	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1063	CENPF	OMIM:243605
HP:0010993	Abnormal cerebral subcortex morphology	1000	CDH2	OMIM:618929
HP:0010993	Abnormal cerebral subcortex morphology	1781	DYNC1I2	OMIM:618492
HP:0010993	Abnormal cerebral subcortex morphology	1583	CYP11A1	ORPHA:289548
HP:0010993	Abnormal cerebral subcortex morphology	1583	CYP11A1	ORPHA:168558
HP:0010993	Abnormal cerebral subcortex morphology	1641	DCX	OMIM:300067
HP:0010993	Abnormal cerebral subcortex morphology	7161	TP73	OMIM:619466
HP:0010993	Abnormal cerebral subcortex morphology	2009	EML1	OMIM:600348
HP:0010993	Abnormal cerebral subcortex morphology	5395	PMS2	OMIM:619101
HP:0010993	Abnormal cerebral subcortex morphology	4990	SIX6	OMIM:206900
HP:0010993	Abnormal cerebral subcortex morphology	2313	FLI1	ORPHA:2308
HP:0010993	Abnormal cerebral subcortex morphology	60	ACTB	OMIM:243310
HP:0010993	Abnormal cerebral subcortex morphology	64840	PORCN	OMIM:305600
HP:0010993	Abnormal cerebral subcortex morphology	2290	FOXG1	ORPHA:261144
HP:0010993	Abnormal cerebral subcortex morphology	65250	CPLANE1	OMIM:277170
HP:0010993	Abnormal cerebral subcortex morphology	71	ACTG1	OMIM:614583
HP:0010993	Abnormal cerebral subcortex morphology	8092	ALX1	ORPHA:306542
HP:0010993	Abnormal cerebral subcortex morphology	348180	CTU2	OMIM:618142
HP:0010993	Abnormal cerebral subcortex morphology	57545	CC2D2A	OMIM:619111
HP:0010993	Abnormal cerebral subcortex morphology	145173	B3GLCT	OMIM:261540
HP:0010993	Abnormal cerebral subcortex morphology	1387	CREBBP	OMIM:180849
HP:0010993	Abnormal cerebral subcortex morphology	2033	EP300	OMIM:180849
HP:0010993	Abnormal cerebral subcortex morphology	5162	PDHB	ORPHA:255138
HP:0010993	Abnormal cerebral subcortex morphology	5162	PDHB	OMIM:614111
HP:0010993	Abnormal cerebral subcortex morphology	374879	ZNF699	OMIM:619488
HP:0010993	Abnormal cerebral subcortex morphology	55640	FLVCR2	OMIM:225790
HP:0010993	Abnormal cerebral subcortex morphology	91875	TTC5	OMIM:619244
HP:0010993	Abnormal cerebral subcortex morphology	80210	ARMC9	OMIM:617622
HP:0010993	Abnormal cerebral subcortex morphology	6299	SALL1	ORPHA:857
HP:0010993	Abnormal cerebral subcortex morphology	51339	DACT1	ORPHA:857
HP:0010993	Abnormal cerebral subcortex morphology	113246	C12orf57	OMIM:218340
HP:0010993	Abnormal cerebral subcortex morphology	25782	RAB3GAP2	ORPHA:401830
HP:0010993	Abnormal cerebral subcortex morphology	1376	CPT2	OMIM:608836
HP:0010993	Abnormal cerebral subcortex morphology	1376	CPT2	ORPHA:228308
HP:0010993	Abnormal cerebral subcortex morphology	259266	ASPM	OMIM:608716
HP:0010993	Abnormal cerebral subcortex morphology	259266	ASPM	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	2177	FANCD2	OMIM:227646
HP:0010993	Abnormal cerebral subcortex morphology	652	BMP4	ORPHA:139471
HP:0010993	Abnormal cerebral subcortex morphology	84823	LMNB2	OMIM:616540
HP:0010993	Abnormal cerebral subcortex morphology	8243	SMC1A	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	8777	MPDZ	OMIM:615219
HP:0010993	Abnormal cerebral subcortex morphology	5430	POLR2A	OMIM:618603
HP:0010993	Abnormal cerebral subcortex morphology	219844	HYLS1	OMIM:236680
HP:0010993	Abnormal cerebral subcortex morphology	219844	HYLS1	ORPHA:2189
HP:0010993	Abnormal cerebral subcortex morphology	4292	MLH1	OMIM:276300
HP:0010993	Abnormal cerebral subcortex morphology	22995	CEP152	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	284403	WDR62	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	55262	TRAPPC14	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	163786	SASS6	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	84879	MFSD2A	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	4176	MCM7	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	80254	CEP63	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	29081	METTL5	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	23310	NCAPD3	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	79648	MCPH1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	7109	TRAPPC10	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1911	PHC1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	6884	TAF13	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	9662	CEP135	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	55835	CENPJ	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	57082	KNL1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1021	CDK6	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	18	ABAT	OMIM:613163
HP:0010993	Abnormal cerebral subcortex morphology	8449	DHX16	OMIM:618733
HP:0010993	Abnormal cerebral subcortex morphology	26123	TCTN3	OMIM:614815
HP:0010993	Abnormal cerebral subcortex morphology	128674	PROKR2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	6658	SOX3	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	9915	ARNT2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	58499	ZNF462	OMIM:618619
HP:0010993	Abnormal cerebral subcortex morphology	1718	DHCR24	OMIM:602398
HP:0010993	Abnormal cerebral subcortex morphology	2615	LRRC32	OMIM:619074
HP:0010993	Abnormal cerebral subcortex morphology	10128	LRPPRC	OMIM:220111
HP:0010993	Abnormal cerebral subcortex morphology	57498	KIDINS220	OMIM:617296
HP:0010993	Abnormal cerebral subcortex morphology	10785	WDR4	OMIM:618346
HP:0010993	Abnormal cerebral subcortex morphology	26005	C2CD3	ORPHA:434179
HP:0010993	Abnormal cerebral subcortex morphology	26005	C2CD3	OMIM:615948
HP:0010993	Abnormal cerebral subcortex morphology	10765	KDM5B	OMIM:618109
HP:0010993	Abnormal cerebral subcortex morphology	6938	TCF12	OMIM:615314
HP:0010993	Abnormal cerebral subcortex morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010993	Abnormal cerebral subcortex morphology	5727	PTCH1	OMIM:610828
HP:0010993	Abnormal cerebral subcortex morphology	2736	GLI2	OMIM:610829
HP:0010993	Abnormal cerebral subcortex morphology	4036	LRP2	OMIM:222448
HP:0010993	Abnormal cerebral subcortex morphology	136647	MPLKIP	OMIM:234050
HP:0010993	Abnormal cerebral subcortex morphology	136647	MPLKIP	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	10733	PLK4	OMIM:616171
HP:0010993	Abnormal cerebral subcortex morphology	8050	PDHX	OMIM:245349
HP:0010993	Abnormal cerebral subcortex morphology	51112	TRAPPC12	ORPHA:500144
HP:0010993	Abnormal cerebral subcortex morphology	1062	CENPE	OMIM:616051
HP:0010993	Abnormal cerebral subcortex morphology	10300	KATNB1	OMIM:616212
HP:0010993	Abnormal cerebral subcortex morphology	55755	CDK5RAP2	OMIM:604804
HP:0010993	Abnormal cerebral subcortex morphology	4190	MDH1	OMIM:618959
HP:0010993	Abnormal cerebral subcortex morphology	118924	FRA10AC1	OMIM:620113
HP:0010993	Abnormal cerebral subcortex morphology	9968	MED12	OMIM:305450
HP:0010993	Abnormal cerebral subcortex morphology	60386	SLC25A19	OMIM:607196
HP:0010993	Abnormal cerebral subcortex morphology	55691	FRMD4A	OMIM:616819
HP:0010993	Abnormal cerebral subcortex morphology	139285	AMER1	OMIM:300373
HP:0010993	Abnormal cerebral subcortex morphology	23007	PLCH1	OMIM:619895
HP:0010993	Abnormal cerebral subcortex morphology	57492	ARID1B	OMIM:135900
HP:0010993	Abnormal cerebral subcortex morphology	64324	NSD1	OMIM:117550
HP:0010993	Abnormal cerebral subcortex morphology	729920	CRPPA	OMIM:614643
HP:0010993	Abnormal cerebral subcortex morphology	54916	TMEM260	OMIM:617478
HP:0010993	Abnormal cerebral subcortex morphology	404672	GTF2H5	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	833	CARS1	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	2068	ERCC2	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	7737	RNF113A	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	6897	TARS1	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	2071	ERCC3	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	2961	GTF2E2	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	9361	LONP1	ORPHA:79243
HP:0010993	Abnormal cerebral subcortex morphology	5160	PDHA1	ORPHA:79243
HP:0010993	Abnormal cerebral subcortex morphology	1717	DHCR7	OMIM:270400
HP:0010993	Abnormal cerebral subcortex morphology	3897	L1CAM	OMIM:304100
HP:0010993	Abnormal cerebral subcortex morphology	64432	MRPS25	OMIM:619025
HP:0010993	Abnormal cerebral subcortex morphology	51362	CDC40	OMIM:619302
HP:0010993	Abnormal cerebral subcortex morphology	80199	FUZ	ORPHA:1136
HP:0010993	Abnormal cerebral subcortex morphology	2137	EXTL3	ORPHA:508533
HP:0010993	Abnormal cerebral subcortex morphology	8036	SHOC2	OMIM:607721
HP:0010993	Abnormal cerebral subcortex morphology	10617	STAMBP	OMIM:614261
HP:0010993	Abnormal cerebral subcortex morphology	26235	FBXL4	OMIM:615471
HP:0010993	Abnormal cerebral subcortex morphology	104	ADARB1	OMIM:618862
HP:0010993	Abnormal cerebral subcortex morphology	9853	RUSC2	OMIM:617773
HP:0010993	Abnormal cerebral subcortex morphology	6873	TAF2	OMIM:615599
HP:0010993	Abnormal cerebral subcortex morphology	6873	TAF2	ORPHA:397951
HP:0010993	Abnormal cerebral subcortex morphology	7360	UGP2	OMIM:618744
HP:0010993	Abnormal cerebral subcortex morphology	84942	WDR73	OMIM:251300
HP:0010993	Abnormal cerebral subcortex morphology	80816	ASXL3	OMIM:615485
HP:0010993	Abnormal cerebral subcortex morphology	6536	SLC6A9	OMIM:617301
HP:0010993	Abnormal cerebral subcortex morphology	83696	TRAPPC9	OMIM:613192
HP:0010993	Abnormal cerebral subcortex morphology	83696	TRAPPC9	ORPHA:352530
HP:0010993	Abnormal cerebral subcortex morphology	6844	VAMP2	OMIM:618760
HP:0010993	Abnormal cerebral subcortex morphology	6872	TAF1	ORPHA:480907
HP:0010993	Abnormal cerebral subcortex morphology	6872	TAF1	OMIM:300966
HP:0010993	Abnormal cerebral subcortex morphology	4763	NF1	ORPHA:363700
HP:0010993	Abnormal cerebral subcortex morphology	1656	DDX6	OMIM:618653
HP:0010993	Abnormal cerebral subcortex morphology	25930	PTPN23	OMIM:618890
HP:0010993	Abnormal cerebral subcortex morphology	23327	NEDD4L	OMIM:617201
HP:0010993	Abnormal cerebral subcortex morphology	2903	GRIN2A	ORPHA:289266
HP:0010993	Abnormal cerebral subcortex morphology	2903	GRIN2A	ORPHA:163721
HP:0010993	Abnormal cerebral subcortex morphology	57178	ZMIZ1	OMIM:618659
HP:0010993	Abnormal cerebral subcortex morphology	8550	MAPKAPK5	OMIM:619869
HP:0010993	Abnormal cerebral subcortex morphology	26040	SETBP1	OMIM:269150
HP:0010993	Abnormal cerebral subcortex morphology	26040	SETBP1	ORPHA:798
HP:0010993	Abnormal cerebral subcortex morphology	1499	CTNNB1	ORPHA:404473
HP:0010993	Abnormal cerebral subcortex morphology	1499	CTNNB1	OMIM:615075
HP:0010993	Abnormal cerebral subcortex morphology	2261	FGFR3	OMIM:616482
HP:0010993	Abnormal cerebral subcortex morphology	2261	FGFR3	ORPHA:85165
HP:0010993	Abnormal cerebral subcortex morphology	9895	TECPR2	OMIM:615031
HP:0010993	Abnormal cerebral subcortex morphology	9895	TECPR2	ORPHA:320385
HP:0010993	Abnormal cerebral subcortex morphology	8558	CDK10	OMIM:617694
HP:0010993	Abnormal cerebral subcortex morphology	7531	YWHAE	ORPHA:217385
HP:0010993	Abnormal cerebral subcortex morphology	7531	YWHAE	ORPHA:531
HP:0010993	Abnormal cerebral subcortex morphology	1859	DYRK1A	ORPHA:464311
HP:0010993	Abnormal cerebral subcortex morphology	1859	DYRK1A	ORPHA:268261
HP:0010993	Abnormal cerebral subcortex morphology	26137	ZBTB20	OMIM:259050
HP:0010993	Abnormal cerebral subcortex morphology	9533	POLR1C	OMIM:616494
HP:0010993	Abnormal cerebral subcortex morphology	1615	DARS1	OMIM:615281
HP:0010993	Abnormal cerebral subcortex morphology	3800	KIF5C	OMIM:615282
HP:0010993	Abnormal cerebral subcortex morphology	253959	RALGAPA1	OMIM:618797
HP:0010993	Abnormal cerebral subcortex morphology	51098	IFT52	OMIM:617102
HP:0010993	Abnormal cerebral subcortex morphology	4849	CNOT3	OMIM:618672
HP:0010993	Abnormal cerebral subcortex morphology	79971	WLS	OMIM:619648
HP:0010993	Abnormal cerebral subcortex morphology	7841	MOGS	ORPHA:79330
HP:0010993	Abnormal cerebral subcortex morphology	7841	MOGS	OMIM:606056
HP:0010993	Abnormal cerebral subcortex morphology	23162	MAPK8IP3	OMIM:618443
HP:0010993	Abnormal cerebral subcortex morphology	3798	KIF5A	OMIM:617235
HP:0010993	Abnormal cerebral subcortex morphology	3785	KCNQ2	ORPHA:439218
HP:0010993	Abnormal cerebral subcortex morphology	3785	KCNQ2	OMIM:613720
HP:0010993	Abnormal cerebral subcortex morphology	51062	ATL1	OMIM:182600
HP:0010993	Abnormal cerebral subcortex morphology	10195	ALG3	ORPHA:79321
HP:0010993	Abnormal cerebral subcortex morphology	79087	ALG12	ORPHA:79324
HP:0010993	Abnormal cerebral subcortex morphology	79053	ALG8	ORPHA:79325
HP:0010993	Abnormal cerebral subcortex morphology	8295	TRRAP	OMIM:618454
HP:0010993	Abnormal cerebral subcortex morphology	9742	IFT140	OMIM:266920
HP:0010993	Abnormal cerebral subcortex morphology	7040	TGFB1	OMIM:618213
HP:0010993	Abnormal cerebral subcortex morphology	27429	HTRA2	OMIM:617248
HP:0010993	Abnormal cerebral subcortex morphology	51013	EXOSC1	OMIM:619304
HP:0010993	Abnormal cerebral subcortex morphology	55770	EXOC2	OMIM:619306
HP:0010993	Abnormal cerebral subcortex morphology	9488	PIGB	OMIM:618580
HP:0010993	Abnormal cerebral subcortex morphology	3912	LAMB1	OMIM:615191
HP:0010993	Abnormal cerebral subcortex morphology	84706	GPT2	OMIM:616281
HP:0010993	Abnormal cerebral subcortex morphology	84706	GPT2	ORPHA:477673
HP:0010993	Abnormal cerebral subcortex morphology	160418	TMTC3	OMIM:617255
HP:0010993	Abnormal cerebral subcortex morphology	2187	FANCB	OMIM:300514
HP:0010993	Abnormal cerebral subcortex morphology	10564	ARFGEF2	OMIM:608097
HP:0010993	Abnormal cerebral subcortex morphology	2671	GFER	ORPHA:330054
HP:0010993	Abnormal cerebral subcortex morphology	11160	ERLIN2	ORPHA:209951
HP:0010993	Abnormal cerebral subcortex morphology	11160	ERLIN2	OMIM:611225
HP:0010993	Abnormal cerebral subcortex morphology	56945	MRPS22	OMIM:611719
HP:0010993	Abnormal cerebral subcortex morphology	128869	PIGU	OMIM:618590
HP:0010993	Abnormal cerebral subcortex morphology	5631	PRPS1	ORPHA:423479
HP:0010993	Abnormal cerebral subcortex morphology	5515	PPP2CA	OMIM:618354
HP:0010993	Abnormal cerebral subcortex morphology	55610	VPS50	OMIM:619685
HP:0010993	Abnormal cerebral subcortex morphology	1654	DDX3X	ORPHA:457260
HP:0010993	Abnormal cerebral subcortex morphology	1654	DDX3X	OMIM:300958
HP:0010993	Abnormal cerebral subcortex morphology	26128	KIFBP	ORPHA:66629
HP:0010993	Abnormal cerebral subcortex morphology	26128	KIFBP	OMIM:609460
HP:0010993	Abnormal cerebral subcortex morphology	6904	TBCD	ORPHA:496641
HP:0010993	Abnormal cerebral subcortex morphology	6904	TBCD	OMIM:617193
HP:0010993	Abnormal cerebral subcortex morphology	7337	UBE3A	ORPHA:98794
HP:0010993	Abnormal cerebral subcortex morphology	4948	OCA2	ORPHA:98794
HP:0010993	Abnormal cerebral subcortex morphology	22796	COG2	OMIM:617395
HP:0010993	Abnormal cerebral subcortex morphology	22796	COG2	ORPHA:435934
HP:0010993	Abnormal cerebral subcortex morphology	2560	GABRB1	OMIM:617153
HP:0010993	Abnormal cerebral subcortex morphology	10588	MTHFS	OMIM:618367
HP:0010993	Abnormal cerebral subcortex morphology	23221	RHOBTB2	OMIM:618004
HP:0010993	Abnormal cerebral subcortex morphology	7965	AIMP2	OMIM:618006
HP:0010993	Abnormal cerebral subcortex morphology	201163	FLCN	OMIM:610883
HP:0010993	Abnormal cerebral subcortex morphology	7703	PCGF2	OMIM:618371
HP:0010993	Abnormal cerebral subcortex morphology	11342	RNF13	OMIM:618379
HP:0010993	Abnormal cerebral subcortex morphology	11342	RNF13	ORPHA:544503
HP:0010993	Abnormal cerebral subcortex morphology	9758	FRMPD4	OMIM:300983
HP:0010993	Abnormal cerebral subcortex morphology	5277	PIGA	OMIM:300868
HP:0010993	Abnormal cerebral subcortex morphology	8883	NAE1	OMIM:620210
HP:0010993	Abnormal cerebral subcortex morphology	80185	TTI2	ORPHA:391307
HP:0010993	Abnormal cerebral subcortex morphology	50801	KCNK4	OMIM:618381
HP:0010993	Abnormal cerebral subcortex morphology	84265	POLR3GL	OMIM:619234
HP:0010993	Abnormal cerebral subcortex morphology	2892	GRIA3	ORPHA:364028
HP:0010993	Abnormal cerebral subcortex morphology	2571	GAD1	OMIM:619124
HP:0010993	Abnormal cerebral subcortex morphology	2222	FDFT1	OMIM:618156
HP:0010993	Abnormal cerebral subcortex morphology	285590	SH3PXD2B	OMIM:249420
HP:0010993	Abnormal cerebral subcortex morphology	90522	YIF1B	OMIM:619125
HP:0010993	Abnormal cerebral subcortex morphology	8239	USP9X	OMIM:300968
HP:0010993	Abnormal cerebral subcortex morphology	8239	USP9X	ORPHA:480880
HP:0010993	Abnormal cerebral subcortex morphology	9326	ZNHIT3	OMIM:260565
HP:0010993	Abnormal cerebral subcortex morphology	6472	SHMT2	OMIM:619121
HP:0010993	Abnormal cerebral subcortex morphology	29123	ANKRD11	ORPHA:261250
HP:0010993	Abnormal cerebral subcortex morphology	9373	PLAA	ORPHA:521426
HP:0010993	Abnormal cerebral subcortex morphology	9373	PLAA	OMIM:617527
HP:0010993	Abnormal cerebral subcortex morphology	8911	CACNA1I	OMIM:620114
HP:0010993	Abnormal cerebral subcortex morphology	93587	TRMT10A	ORPHA:391408
HP:0010993	Abnormal cerebral subcortex morphology	84919	PPP1R15B	ORPHA:391408
HP:0010993	Abnormal cerebral subcortex morphology	84919	PPP1R15B	OMIM:616817
HP:0010993	Abnormal cerebral subcortex morphology	3090	HIC1	ORPHA:531
HP:0010993	Abnormal cerebral subcortex morphology	2629	GBA1	ORPHA:2072
HP:0010993	Abnormal cerebral subcortex morphology	340533	NEXMIF	ORPHA:85277
HP:0010993	Abnormal cerebral subcortex morphology	89970	RSPRY1	ORPHA:457395
HP:0010993	Abnormal cerebral subcortex morphology	55005	RMND1	OMIM:614922
HP:0010993	Abnormal cerebral subcortex morphology	10079	ATP9A	OMIM:620242
HP:0010993	Abnormal cerebral subcortex morphology	23299	BICD2	OMIM:618291
HP:0010993	Abnormal cerebral subcortex morphology	64802	NMNAT1	OMIM:619260
HP:0010993	Abnormal cerebral subcortex morphology	129285	PPP1R21	OMIM:619383
HP:0010993	Abnormal cerebral subcortex morphology	114034	TOE1	ORPHA:284339
HP:0010993	Abnormal cerebral subcortex morphology	114034	TOE1	OMIM:614969
HP:0010993	Abnormal cerebral subcortex morphology	84842	HPDL	OMIM:619026
HP:0010993	Abnormal cerebral subcortex morphology	3480	IGF1R	OMIM:270450
HP:0010993	Abnormal cerebral subcortex morphology	10682	EBP	ORPHA:401973
HP:0010993	Abnormal cerebral subcortex morphology	6095	RORA	OMIM:618060
HP:0010993	Abnormal cerebral subcortex morphology	8450	CUL4B	OMIM:300354
HP:0010993	Abnormal cerebral subcortex morphology	6535	SLC6A8	OMIM:300352
HP:0010993	Abnormal cerebral subcortex morphology	132158	GLYCTK	ORPHA:941
HP:0010993	Abnormal cerebral subcortex morphology	57176	VARS2	OMIM:615917
HP:0010993	Abnormal cerebral subcortex morphology	80222	TARS2	OMIM:615918
HP:0010993	Abnormal cerebral subcortex morphology	200205	IBA57	ORPHA:468661
HP:0010993	Abnormal cerebral subcortex morphology	200205	IBA57	OMIM:615330
HP:0010993	Abnormal cerebral subcortex morphology	80232	WDR26	ORPHA:513456
HP:0010993	Abnormal cerebral subcortex morphology	80232	WDR26	OMIM:617616
HP:0010993	Abnormal cerebral subcortex morphology	89910	UBE3B	OMIM:244450
HP:0010993	Abnormal cerebral subcortex morphology	57582	KCNT1	OMIM:614959
HP:0010993	Abnormal cerebral subcortex morphology	55780	ERMARD	ORPHA:75857
HP:0010993	Abnormal cerebral subcortex morphology	25839	COG4	ORPHA:263501
HP:0010993	Abnormal cerebral subcortex morphology	25839	COG4	OMIM:613489
HP:0010993	Abnormal cerebral subcortex morphology	55157	DARS2	ORPHA:137898
HP:0010993	Abnormal cerebral subcortex morphology	501	ALDH7A1	ORPHA:3006
HP:0010993	Abnormal cerebral subcortex morphology	11212	PLPBP	ORPHA:3006
HP:0010993	Abnormal cerebral subcortex morphology	57531	HACE1	ORPHA:464282
HP:0010993	Abnormal cerebral subcortex morphology	57531	HACE1	OMIM:616756
HP:0010993	Abnormal cerebral subcortex morphology	80856	LNPK	OMIM:618090
HP:0010993	Abnormal cerebral subcortex morphology	26278	SACS	ORPHA:98
HP:0010993	Abnormal cerebral subcortex morphology	2752	GLUL	OMIM:610015
HP:0010993	Abnormal cerebral subcortex morphology	54496	PRMT7	ORPHA:464288
HP:0010993	Abnormal cerebral subcortex morphology	23265	EXOC7	OMIM:619072
HP:0010993	Abnormal cerebral subcortex morphology	1798	DPAGT1	ORPHA:86309
HP:0010993	Abnormal cerebral subcortex morphology	7025	NR2F1	ORPHA:401777
HP:0010993	Abnormal cerebral subcortex morphology	149371	EXOC8	OMIM:619076
HP:0010993	Abnormal cerebral subcortex morphology	56006	SMG9	OMIM:616920
HP:0010993	Abnormal cerebral subcortex morphology	27286	SRPX2	ORPHA:163721
HP:0010993	Abnormal cerebral subcortex morphology	285175	UNC80	OMIM:616801
HP:0010993	Abnormal cerebral subcortex morphology	285175	UNC80	ORPHA:371364
HP:0010993	Abnormal cerebral subcortex morphology	79753	SNIP1	OMIM:614501
HP:0010993	Abnormal cerebral subcortex morphology	54499	TMCO1	OMIM:213980
HP:0010993	Abnormal cerebral subcortex morphology	54499	TMCO1	ORPHA:1394
HP:0010993	Abnormal cerebral subcortex morphology	58508	KMT2C	ORPHA:261652
HP:0010993	Abnormal cerebral subcortex morphology	4094	MAF	ORPHA:1272
HP:0010993	Abnormal cerebral subcortex morphology	5591	PRKDC	OMIM:615966
HP:0010993	Abnormal cerebral subcortex morphology	51244	CCDC174	OMIM:616816
HP:0010993	Abnormal cerebral subcortex morphology	51322	WAC	ORPHA:284169
HP:0010993	Abnormal cerebral subcortex morphology	51322	WAC	OMIM:616708
HP:0010993	Abnormal cerebral subcortex morphology	55275	VPS53	OMIM:615851
HP:0010993	Abnormal cerebral subcortex morphology	200403	VWA3B	OMIM:616948
HP:0010993	Abnormal cerebral subcortex morphology	85021	REPS1	OMIM:617916
HP:0010993	Abnormal cerebral subcortex morphology	85440	DOCK7	OMIM:615859
HP:0010993	Abnormal cerebral subcortex morphology	85440	DOCK7	ORPHA:411986
HP:0010993	Abnormal cerebral subcortex morphology	7407	VARS1	OMIM:617802
HP:0010993	Abnormal cerebral subcortex morphology	57165	GJC2	OMIM:613206
HP:0010993	Abnormal cerebral subcortex morphology	7490	WT1	OMIM:106210
HP:0010993	Abnormal cerebral subcortex morphology	5080	PAX6	OMIM:106210
HP:0010993	Abnormal cerebral subcortex morphology	10075	HUWE1	OMIM:309590
HP:0010993	Abnormal cerebral subcortex morphology	91949	COG7	OMIM:608779
HP:0010993	Abnormal cerebral subcortex morphology	124997	WDR81	OMIM:610185
HP:0010993	Abnormal cerebral subcortex morphology	5859	QARS1	OMIM:615760
HP:0010993	Abnormal cerebral subcortex morphology	23291	FBXW11	OMIM:618914
HP:0010993	Abnormal cerebral subcortex morphology	50	ACO2	OMIM:614559
HP:0010993	Abnormal cerebral subcortex morphology	10982	MAPRE2	OMIM:616734
HP:0010993	Abnormal cerebral subcortex morphology	51218	GLRX5	OMIM:616859
HP:0010993	Abnormal cerebral subcortex morphology	5053	PAH	ORPHA:2209
HP:0010993	Abnormal cerebral subcortex morphology	4131	MAP1B	OMIM:618918
HP:0010993	Abnormal cerebral subcortex morphology	5925	RB1	ORPHA:1587
HP:0010993	Abnormal cerebral subcortex morphology	23511	NUP188	OMIM:618804
HP:0010993	Abnormal cerebral subcortex morphology	1778	DYNC1H1	OMIM:614563
HP:0010993	Abnormal cerebral subcortex morphology	2058	EPRS1	OMIM:617951
HP:0010993	Abnormal cerebral subcortex morphology	27315	PGAP2	OMIM:614207
HP:0010993	Abnormal cerebral subcortex morphology	57511	COG6	OMIM:614576
HP:0010993	Abnormal cerebral subcortex morphology	54664	TMEM106B	OMIM:617964
HP:0010993	Abnormal cerebral subcortex morphology	1729	DIAPH1	OMIM:616632
HP:0010993	Abnormal cerebral subcortex morphology	9419	CRIPT	OMIM:615789
HP:0010993	Abnormal cerebral subcortex morphology	55644	OSGEP	OMIM:617729
HP:0010993	Abnormal cerebral subcortex morphology	340075	ARSI	ORPHA:401815
HP:0010993	Abnormal cerebral subcortex morphology	4337	MOCS1	OMIM:252150
HP:0010993	Abnormal cerebral subcortex morphology	29957	SLC25A24	OMIM:612289
HP:0010993	Abnormal cerebral subcortex morphology	259232	NALCN	ORPHA:371364
HP:0010993	Abnormal cerebral subcortex morphology	122553	TRAPPC6B	OMIM:617862
HP:0010993	Abnormal cerebral subcortex morphology	51124	IER3IP1	OMIM:614231
HP:0010993	Abnormal cerebral subcortex morphology	2893	GRIA4	OMIM:617864
HP:0010993	Abnormal cerebral subcortex morphology	55704	CCDC88A	OMIM:617507
HP:0010993	Abnormal cerebral subcortex morphology	5296	PIK3R2	OMIM:603387
HP:0010993	Abnormal cerebral subcortex morphology	440	ASNS	OMIM:615574
HP:0010993	Abnormal cerebral subcortex morphology	5455	POU3F3	OMIM:618604
HP:0010993	Abnormal cerebral subcortex morphology	738	VPS51	OMIM:618606
HP:0010993	Abnormal cerebral subcortex morphology	5116	PCNT	ORPHA:2637
HP:0010993	Abnormal cerebral subcortex morphology	2806	GOT2	OMIM:618721
HP:0010993	Abnormal cerebral subcortex morphology	51663	ZFR	ORPHA:401840
HP:0010993	Abnormal cerebral subcortex morphology	1468	SLC25A10	OMIM:618972
HP:0010993	Abnormal cerebral subcortex morphology	1968	EIF2S3	OMIM:300148
HP:0010993	Abnormal cerebral subcortex morphology	5307	PITX1	OMIM:119800
HP:0010993	Abnormal cerebral subcortex morphology	8884	SLC5A6	OMIM:618973
HP:0010993	Abnormal cerebral subcortex morphology	55331	ACER3	OMIM:617762
HP:0010993	Abnormal cerebral subcortex morphology	10844	TUBGCP2	OMIM:618737
HP:0010993	Abnormal cerebral subcortex morphology	4858	NOVA2	OMIM:618859
HP:0010993	Abnormal cerebral subcortex morphology	84148	KAT8	OMIM:618974
HP:0010993	Abnormal cerebral subcortex morphology	2639	GCDH	ORPHA:25
HP:0010993	Abnormal cerebral subcortex morphology	7084	TK2	OMIM:609560
HP:0010993	Abnormal cerebral subcortex morphology	170825	GSX2	OMIM:618646
HP:0010993	Abnormal cerebral subcortex morphology	2512	FTL	ORPHA:157846
HP:0010993	Abnormal cerebral subcortex morphology	5621	PRNP	ORPHA:157941
HP:0010993	Abnormal cerebral subcortex morphology	549	AUH	ORPHA:67046
HP:0010993	Abnormal cerebral subcortex morphology	8803	SUCLA2	OMIM:612073
HP:0010993	Abnormal cerebral subcortex morphology	9131	AIFM1	OMIM:300816
HP:0010993	Abnormal cerebral subcortex morphology	93986	FOXP2	OMIM:602081
HP:0010993	Abnormal cerebral subcortex morphology	3028	HSD17B10	ORPHA:391428
HP:0010993	Abnormal cerebral subcortex morphology	113612	CYP2U1	OMIM:615030
HP:0010993	Abnormal cerebral subcortex morphology	58494	JAM2	OMIM:618824
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	ORPHA:90324
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	ORPHA:90321
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	OMIM:216400
HP:0010993	Abnormal cerebral subcortex morphology	9636	ISG15	OMIM:616126
HP:0010993	Abnormal cerebral subcortex morphology	2072	ERCC4	ORPHA:90321
HP:0010993	Abnormal cerebral subcortex morphology	54209	TREM2	OMIM:618193
HP:0010993	Abnormal cerebral subcortex morphology	2767	GNA11	OMIM:615361
HP:0010993	Abnormal cerebral subcortex morphology	5155	PDGFB	OMIM:615483
HP:0010993	Abnormal cerebral subcortex morphology	5155	PDGFB	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	9213	XPR1	OMIM:616413
HP:0010993	Abnormal cerebral subcortex morphology	2625	GATA3	OMIM:146255
HP:0010993	Abnormal cerebral subcortex morphology	5159	PDGFRB	OMIM:615007
HP:0010993	Abnormal cerebral subcortex morphology	5159	PDGFRB	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	57462	MYORG	OMIM:618317
HP:0010993	Abnormal cerebral subcortex morphology	90	ACVR1	OMIM:135100
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	OMIM:612462
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	ORPHA:79443
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	ORPHA:79444
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	OMIM:103580
HP:0010993	Abnormal cerebral subcortex morphology	727676	SNORD118	ORPHA:542310
HP:0010993	Abnormal cerebral subcortex morphology	6575	SLC20A2	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	63901	FAM111A	OMIM:127000
HP:0010993	Abnormal cerebral subcortex morphology	63901	FAM111A	ORPHA:93325
HP:0010993	Abnormal cerebral subcortex morphology	116442	RAB39B	OMIM:311510
HP:0010993	Abnormal cerebral subcortex morphology	56984	PSMG2	OMIM:619183
HP:0010993	Abnormal cerebral subcortex morphology	846	CASR	OMIM:601198
HP:0010993	Abnormal cerebral subcortex morphology	23404	EXOSC2	OMIM:617763
HP:0010993	Abnormal cerebral subcortex morphology	7305	TYROBP	OMIM:221770
HP:0010993	Abnormal cerebral subcortex morphology	113235	SLC46A1	OMIM:229050
HP:0010993	Abnormal cerebral subcortex morphology	5696	PSMB8	OMIM:256040
HP:0010993	Abnormal cerebral subcortex morphology	2697	GJA1	OMIM:164200
HP:0010993	Abnormal cerebral subcortex morphology	8905	AP1S2	OMIM:304340
HP:0010993	Abnormal cerebral subcortex morphology	80347	COASY	ORPHA:397725
HP:0010993	Abnormal cerebral subcortex morphology	1678	TIMM8A	ORPHA:52368
HP:0010993	Abnormal cerebral subcortex morphology	26580	BSCL2	ORPHA:363400
HP:0010993	Abnormal cerebral subcortex morphology	4750	NEK1	OMIM:617892
HP:0010993	Abnormal cerebral subcortex morphology	4983	OPHN1	ORPHA:137831
HP:0010993	Abnormal cerebral subcortex morphology	57338	JPH3	ORPHA:98934
HP:0010993	Abnormal cerebral subcortex morphology	4594	MMUT	OMIM:251000
HP:0010993	Abnormal cerebral subcortex morphology	3417	IDH1	ORPHA:99646
HP:0010993	Abnormal cerebral subcortex morphology	83636	C19orf12	OMIM:614298
HP:0010993	Abnormal cerebral subcortex morphology	1737	DLAT	ORPHA:79244
HP:0010993	Abnormal cerebral subcortex morphology	10749	KIF1C	ORPHA:397946
HP:0010993	Abnormal cerebral subcortex morphology	1173	AP2M1	OMIM:618587
HP:0010993	Abnormal cerebral subcortex morphology	23345	SYNE1	ORPHA:88644
HP:0010993	Abnormal cerebral subcortex morphology	1786	DNMT1	ORPHA:314404
HP:0010993	Abnormal cerebral subcortex morphology	123263	MTFMT	OMIM:614947
HP:0010993	Abnormal cerebral subcortex morphology	6687	SPG7	ORPHA:99013
HP:0010993	Abnormal cerebral subcortex morphology	5551	PRF1	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	8676	STX11	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	201294	UNC13D	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	6813	STXBP2	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	55187	VPS13D	OMIM:607317
HP:0010993	Abnormal cerebral subcortex morphology	3778	KCNMA1	OMIM:618596
HP:0010993	Abnormal cerebral subcortex morphology	51601	LIPT1	OMIM:616299
HP:0010993	Abnormal cerebral subcortex morphology	4552	MTRR	ORPHA:2169
HP:0010993	Abnormal cerebral subcortex morphology	57231	SNX14	ORPHA:397709
HP:0010993	Abnormal cerebral subcortex morphology	1890	TYMP	ORPHA:298
HP:0010993	Abnormal cerebral subcortex morphology	219285	SAMD9L	OMIM:159550
HP:0010993	Abnormal cerebral subcortex morphology	2590	GALNT2	OMIM:618885
HP:0010993	Abnormal cerebral subcortex morphology	6773	STAT2	OMIM:618886
HP:0010993	Abnormal cerebral subcortex morphology	55858	TMEM165	OMIM:614727
HP:0010993	Abnormal cerebral subcortex morphology	8398	PLA2G6	ORPHA:35069
HP:0010993	Abnormal cerebral subcortex morphology	29967	LRP12	OMIM:164310
HP:0010993	Abnormal cerebral subcortex morphology	2632	GBE1	OMIM:263570
HP:0010993	Abnormal cerebral subcortex morphology	3155	HMGCL	OMIM:246450
HP:0010993	Abnormal cerebral subcortex morphology	8789	FBP2	OMIM:619864
HP:0010993	Abnormal cerebral subcortex morphology	2705	GJB1	OMIM:302800
HP:0010993	Abnormal cerebral subcortex morphology	3908	LAMA2	OMIM:618138
HP:0010993	Abnormal cerebral subcortex morphology	953	ENTPD1	ORPHA:401810
HP:0010993	Abnormal cerebral subcortex morphology	953	ENTPD1	OMIM:615683
HP:0010993	Abnormal cerebral subcortex morphology	57187	THOC2	OMIM:300957
HP:0010993	Abnormal cerebral subcortex morphology	64849	SLC13A3	OMIM:618384
HP:0010993	Abnormal cerebral subcortex morphology	35	ACADS	OMIM:201470
HP:0010993	Abnormal cerebral subcortex morphology	1497	CTNS	ORPHA:411629
HP:0010993	Abnormal cerebral subcortex morphology	57459	GATAD2B	ORPHA:363686
HP:0010993	Abnormal cerebral subcortex morphology	440138	ALG11	ORPHA:280071
HP:0010993	Abnormal cerebral subcortex morphology	6182	MRPL12	OMIM:618951
HP:0010993	Abnormal cerebral subcortex morphology	5192	PEX10	OMIM:614871
HP:0010993	Abnormal cerebral subcortex morphology	51473	DCDC2	ORPHA:84081
HP:0010993	Abnormal cerebral subcortex morphology	23314	SATB2	ORPHA:576283
HP:0010993	Abnormal cerebral subcortex morphology	9101	USP8	ORPHA:401795
HP:0010993	Abnormal cerebral subcortex morphology	55739	NAXD	OMIM:618321
HP:0010993	Abnormal cerebral subcortex morphology	51	ACOX1	OMIM:618960
HP:0010993	Abnormal cerebral subcortex morphology	2186	BPTF	OMIM:617755
HP:0010993	Abnormal cerebral subcortex morphology	57731	SPTBN4	OMIM:617519
HP:0010993	Abnormal cerebral subcortex morphology	1807	DPYS	OMIM:222748
HP:0010993	Abnormal cerebral subcortex morphology	55181	SMG8	OMIM:619268
HP:0010993	Abnormal cerebral subcortex morphology	25978	CHMP2B	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	25978	CHMP2B	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	5663	PSEN1	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	5663	PSEN1	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	2896	GRN	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	2896	GRN	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	8878	SQSTM1	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	7415	VCP	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	7415	VCP	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	7319	UBE2A	ORPHA:163956
HP:0010993	Abnormal cerebral subcortex morphology	165918	RNF168	ORPHA:420741
HP:0010993	Abnormal cerebral subcortex morphology	10717	AP4B1	OMIM:614066
HP:0010993	Abnormal cerebral subcortex morphology	10717	AP4B1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	51501	HIKESHI	OMIM:616881
HP:0010993	Abnormal cerebral subcortex morphology	998	CDC42	ORPHA:487796
HP:0010993	Abnormal cerebral subcortex morphology	998	CDC42	OMIM:616737
HP:0010993	Abnormal cerebral subcortex morphology	1593	CYP27A1	OMIM:213700
HP:0010993	Abnormal cerebral subcortex morphology	8818	DPM2	ORPHA:329178
HP:0010993	Abnormal cerebral subcortex morphology	81570	CLPB	OMIM:619835
HP:0010993	Abnormal cerebral subcortex morphology	285362	SUMF1	OMIM:272200
HP:0010993	Abnormal cerebral subcortex morphology	79783	SUGCT	ORPHA:35706
HP:0010993	Abnormal cerebral subcortex morphology	54344	DPM3	OMIM:618992
HP:0010993	Abnormal cerebral subcortex morphology	2670	GFAP	ORPHA:363722
HP:0010993	Abnormal cerebral subcortex morphology	122961	ISCA2	OMIM:616370
HP:0010993	Abnormal cerebral subcortex morphology	55159	RFWD3	OMIM:617784
HP:0010993	Abnormal cerebral subcortex morphology	4010	LMX1B	ORPHA:495818
HP:0010993	Abnormal cerebral subcortex morphology	6812	STXBP1	ORPHA:495818
HP:0010993	Abnormal cerebral subcortex morphology	284217	LAMA1	OMIM:615960
HP:0010993	Abnormal cerebral subcortex morphology	271	AMPD2	OMIM:615686
HP:0010993	Abnormal cerebral subcortex morphology	271	AMPD2	ORPHA:401805
HP:0010993	Abnormal cerebral subcortex morphology	23400	ATP13A2	OMIM:617225
HP:0010993	Abnormal cerebral subcortex morphology	23400	ATP13A2	ORPHA:513436
HP:0010993	Abnormal cerebral subcortex morphology	3781	KCNN2	OMIM:619725
HP:0010993	Abnormal cerebral subcortex morphology	10059	DNM1L	ORPHA:98673
HP:0010993	Abnormal cerebral subcortex morphology	4976	OPA1	ORPHA:98673
HP:0010993	Abnormal cerebral subcortex morphology	9179	AP4M1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	11154	AP4S1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	23431	AP4E1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	6748	SSR4	ORPHA:370927
HP:0010993	Abnormal cerebral subcortex morphology	7317	UBA1	ORPHA:1145
HP:0010993	Abnormal cerebral subcortex morphology	5879	RAC1	ORPHA:500159
HP:0010993	Abnormal cerebral subcortex morphology	8560	DEGS1	OMIM:618404
HP:0010993	Abnormal cerebral subcortex morphology	5832	ALDH18A1	ORPHA:447760
HP:0010993	Abnormal cerebral subcortex morphology	10352	WARS2	ORPHA:572798
HP:0010993	Abnormal cerebral subcortex morphology	4208	MEF2C	OMIM:613443
HP:0010993	Abnormal cerebral subcortex morphology	760	CA2	ORPHA:2785
HP:0010993	Abnormal cerebral subcortex morphology	54	ACP5	ORPHA:1855
HP:0010993	Abnormal cerebral subcortex morphology	85476	GFM1	OMIM:609060
HP:0010993	Abnormal cerebral subcortex morphology	4668	NAGA	OMIM:609242
HP:0010993	Abnormal cerebral subcortex morphology	701	BUB1B	OMIM:257300
HP:0010993	Abnormal cerebral subcortex morphology	80267	EDEM3	OMIM:619493
HP:0010993	Abnormal cerebral subcortex morphology	5091	PC	OMIM:266150
HP:0010993	Abnormal cerebral subcortex morphology	4718	NDUFC2	OMIM:619170
HP:0010993	Abnormal cerebral subcortex morphology	7874	USP7	ORPHA:500055
HP:0010993	Abnormal cerebral subcortex morphology	55621	TRMT1	OMIM:618302
HP:0010993	Abnormal cerebral subcortex morphology	79029	AFG2B	OMIM:619616
HP:0010993	Abnormal cerebral subcortex morphology	57479	PRR12	OMIM:619539
HP:0010993	Abnormal cerebral subcortex morphology	51002	TPRKB	OMIM:617731
HP:0010993	Abnormal cerebral subcortex morphology	57514	ARHGAP31	OMIM:100300
HP:0010993	Abnormal cerebral subcortex morphology	57514	ARHGAP31	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	1183	CLCN4	ORPHA:485350
HP:0010993	Abnormal cerebral subcortex morphology	3098	HK1	OMIM:618547
HP:0010993	Abnormal cerebral subcortex morphology	23259	DDHD2	ORPHA:320380
HP:0010993	Abnormal cerebral subcortex morphology	8496	PPFIBP1	OMIM:620024
HP:0010993	Abnormal cerebral subcortex morphology	26047	CNTNAP2	ORPHA:163681
HP:0010993	Abnormal cerebral subcortex morphology	22880	MORC2	ORPHA:466768
HP:0010993	Abnormal cerebral subcortex morphology	375387	NRROS	OMIM:618875
HP:0010993	Abnormal cerebral subcortex morphology	57505	AARS2	OMIM:615889
HP:0010993	Abnormal cerebral subcortex morphology	200424	TET3	OMIM:618798
HP:0010993	Abnormal cerebral subcortex morphology	55753	OGDHL	OMIM:619701
HP:0010993	Abnormal cerebral subcortex morphology	3516	RBPJ	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	4851	NOTCH1	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	57572	DOCK6	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	285203	EOGT	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	54567	DLL4	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	7846	TUBA1A	ORPHA:171680
HP:0010993	Abnormal cerebral subcortex morphology	4841	NONO	ORPHA:466791
HP:0010993	Abnormal cerebral subcortex morphology	4841	NONO	OMIM:300967
HP:0010993	Abnormal cerebral subcortex morphology	9791	PTDSS1	OMIM:151050
HP:0010993	Abnormal cerebral subcortex morphology	29899	GPSM2	OMIM:604213
HP:0010993	Abnormal cerebral subcortex morphology	4001	LMNB1	OMIM:619179
HP:0010993	Abnormal cerebral subcortex morphology	6651	SON	ORPHA:500150
HP:0010993	Abnormal cerebral subcortex morphology	6651	SON	OMIM:617140
HP:0010993	Abnormal cerebral subcortex morphology	9692	PRORP	OMIM:619737
HP:0010993	Abnormal cerebral subcortex morphology	4659	PPP1R12A	OMIM:618820
HP:0010993	Abnormal cerebral subcortex morphology	51807	TUBA8	ORPHA:250972
HP:0010993	Abnormal cerebral subcortex morphology	93627	TBCK	OMIM:616900
HP:0010993	Abnormal cerebral subcortex morphology	5361	PLXNA1	OMIM:619955
HP:0010993	Abnormal cerebral subcortex morphology	374969	SVBP	OMIM:618569
HP:0010993	Abnormal cerebral subcortex morphology	84081	NSRP1	OMIM:620001
HP:0010993	Abnormal cerebral subcortex morphology	124454	EARS2	OMIM:614924
HP:0010993	Abnormal cerebral subcortex morphology	83480	PUS3	ORPHA:488627
HP:0010993	Abnormal cerebral subcortex morphology	5286	PIK3C2A	ORPHA:557003
HP:0010993	Abnormal cerebral subcortex morphology	91647	ATPAF2	OMIM:604273
HP:0010993	Abnormal cerebral subcortex morphology	57192	MCOLN1	OMIM:252650
HP:0010993	Abnormal cerebral subcortex morphology	9786	KIAA0586	OMIM:616490
HP:0010993	Abnormal cerebral subcortex morphology	79228	THOC6	ORPHA:363444
HP:0010993	Abnormal cerebral subcortex morphology	23258	DENND5A	OMIM:617281
HP:0010993	Abnormal cerebral subcortex morphology	23309	SIN3B	ORPHA:500166
HP:0010993	Abnormal cerebral subcortex morphology	25942	SIN3A	ORPHA:500166
HP:0010993	Abnormal cerebral subcortex morphology	25942	SIN3A	OMIM:613406
HP:0010993	Abnormal cerebral subcortex morphology	10524	KAT5	OMIM:619103
HP:0010993	Abnormal cerebral subcortex morphology	205327	C2orf69	OMIM:619423
HP:0010993	Abnormal cerebral subcortex morphology	22978	NT5C2	OMIM:613162
HP:0010993	Abnormal cerebral subcortex morphology	5283	PIGH	OMIM:618010
HP:0010993	Abnormal cerebral subcortex morphology	23287	AGTPBP1	OMIM:618276
HP:0010993	Abnormal cerebral subcortex morphology	3313	HSPA9	OMIM:616854
HP:0010993	Abnormal cerebral subcortex morphology	283989	TSEN54	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	116461	TSEN15	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	79042	TSEN34	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	80746	TSEN2	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	51091	SEPSECS	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	4953	ODC1	ORPHA:544488
HP:0010993	Abnormal cerebral subcortex morphology	25914	RTTN	OMIM:614833
HP:0010993	Abnormal cerebral subcortex morphology	55210	ATAD3A	OMIM:618810
HP:0010993	Abnormal cerebral subcortex morphology	1642	DDB1	OMIM:619426
HP:0010993	Abnormal cerebral subcortex morphology	79633	FAT4	ORPHA:314679
HP:0010993	Abnormal cerebral subcortex morphology	8642	DCHS1	ORPHA:314679
HP:0010993	Abnormal cerebral subcortex morphology	4713	NDUFB7	OMIM:620135
HP:0010993	Abnormal cerebral subcortex morphology	10667	FARS2	OMIM:614946
HP:0010993	Abnormal cerebral subcortex morphology	291	SLC25A4	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	5428	POLG	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	56652	TWNK	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	50484	RRM2B	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	8635	RNASET2	OMIM:612951
HP:0010993	Abnormal cerebral subcortex morphology	23394	ADNP	ORPHA:404448
HP:0010993	Abnormal cerebral subcortex morphology	91574	MTRFR	ORPHA:320375
HP:0010993	Abnormal cerebral subcortex morphology	7248	TSC1	OMIM:607341
HP:0010993	Abnormal cerebral subcortex morphology	7249	TSC2	OMIM:607341
HP:0010993	Abnormal cerebral subcortex morphology	2475	MTOR	OMIM:607341
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	ORPHA:261537
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	ORPHA:261552
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	OMIM:235730
HP:0010993	Abnormal cerebral subcortex morphology	545	ATR	OMIM:210600
HP:0010993	Abnormal cerebral subcortex morphology	728294	D2HGDH	OMIM:600721
HP:0010993	Abnormal cerebral subcortex morphology	10166	SLC25A15	ORPHA:415
HP:0010993	Abnormal cerebral subcortex morphology	51256	TBC1D7	OMIM:248000
HP:0010993	Abnormal cerebral subcortex morphology	22983	MAST1	OMIM:618273
HP:0010993	Abnormal cerebral subcortex morphology	51780	KDM3B	OMIM:618846
HP:0010993	Abnormal cerebral subcortex morphology	894	CCND2	OMIM:615938
HP:0010993	Abnormal cerebral subcortex morphology	157680	VPS13B	OMIM:216550
HP:0010993	Abnormal cerebral subcortex morphology	158	ADSL	ORPHA:46
HP:0010993	Abnormal cerebral subcortex morphology	3735	KARS1	OMIM:619196
HP:0010993	Abnormal cerebral subcortex morphology	135	ADORA2A	ORPHA:363549
HP:0010993	Abnormal cerebral subcortex morphology	387787	LIPT2	OMIM:617668
HP:0010993	Abnormal cerebral subcortex morphology	4952	OCRL	OMIM:309000
HP:0010993	Abnormal cerebral subcortex morphology	790955	UQCC3	OMIM:616111
HP:0010993	Abnormal cerebral subcortex morphology	2193	FARSA	OMIM:619013
HP:0010993	Abnormal cerebral subcortex morphology	80025	PANK2	OMIM:607236
HP:0010993	Abnormal cerebral subcortex morphology	91869	RFT1	ORPHA:244310
HP:0010993	Abnormal cerebral subcortex morphology	131118	DNAJC19	ORPHA:66634
HP:0010993	Abnormal cerebral subcortex morphology	1355	COX15	OMIM:615119
HP:0010993	Abnormal cerebral subcortex morphology	6389	SDHA	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	91942	NDUFAF2	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4723	NDUFV1	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	55572	FOXRED1	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4729	NDUFV2	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	55967	NDUFA12	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	51204	TACO1	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	51204	TACO1	OMIM:619052
HP:0010993	Abnormal cerebral subcortex morphology	4724	NDUFS4	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4724	NDUFS4	OMIM:252010
HP:0010993	Abnormal cerebral subcortex morphology	4728	NDUFS8	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4722	NDUFS3	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	100131801	PET100	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	51079	NDUFA13	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	374291	NDUFS7	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4705	NDUFA10	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4719	NDUFS1	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4719	NDUFS1	OMIM:618226
HP:0010993	Abnormal cerebral subcortex morphology	4697	NDUFA4	ORPHA:255241
HP:0010993	Abnormal cerebral subcortex morphology	4536	MT-ND2	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4537	MT-ND3	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4577	MT-TV	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4566	MT-TK	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	57107	PDSS2	ORPHA:255249
HP:0010993	Abnormal cerebral subcortex morphology	57107	PDSS2	OMIM:614652
HP:0010993	Abnormal cerebral subcortex morphology	27235	COQ2	ORPHA:255249
HP:0010993	Abnormal cerebral subcortex morphology	5654	HTRA1	OMIM:600142
HP:0010993	Abnormal cerebral subcortex morphology	29925	GMPPB	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	79147	FKRP	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	29954	POMT2	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	84197	POMK	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	55624	POMGNT1	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	10585	POMT1	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	8925	HERC1	ORPHA:457359
HP:0010993	Abnormal cerebral subcortex morphology	54453	RIN2	OMIM:613075
HP:0010993	Abnormal cerebral subcortex morphology	64857	PLEKHG2	OMIM:616763
HP:0010993	Abnormal cerebral subcortex morphology	55823	VPS11	ORPHA:466934
HP:0010993	Abnormal cerebral subcortex morphology	92609	TIMM50	ORPHA:505216
HP:0010993	Abnormal cerebral subcortex morphology	220296	HEPACAM	OMIM:613925
HP:0010993	Abnormal cerebral subcortex morphology	220296	HEPACAM	OMIM:613926
HP:0010993	Abnormal cerebral subcortex morphology	6792	CDKL5	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	3736	KCNA1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	9091	PIGQ	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2775	GNAO1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	81603	TRIM8	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2902	GRIN1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2902	GRIN1	ORPHA:208447
HP:0010993	Abnormal cerebral subcortex morphology	79751	SLC25A22	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	150094	SIK1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	8573	CASK	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	23312	DMXL2	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2917	GRM7	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	170302	ARX	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	11284	PNKP	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	6326	SCN2A	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	51227	PIGP	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	6324	SCN1B	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	4761	NEUROD2	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	9990	SLC12A6	OMIM:218000
HP:0010993	Abnormal cerebral subcortex morphology	28962	OSTM1	OMIM:259720
HP:0010993	Abnormal cerebral subcortex morphology	1513	CTSK	ORPHA:763
HP:0010993	Abnormal cerebral subcortex morphology	9289	ADGRG1	OMIM:606854
HP:0010993	Abnormal cerebral subcortex morphology	9289	ADGRG1	ORPHA:101070
HP:0010993	Abnormal cerebral subcortex morphology	215	ABCD1	ORPHA:139399
HP:0010993	Abnormal cerebral subcortex morphology	3295	HSD17B4	OMIM:261515
HP:0010993	Abnormal cerebral subcortex morphology	5660	PSAP	OMIM:611722
HP:0010993	Abnormal cerebral subcortex morphology	6663	SOX10	OMIM:609136
HP:0010993	Abnormal cerebral subcortex morphology	5728	PTEN	ORPHA:101070
HP:0010993	Abnormal cerebral subcortex morphology	84340	GFM2	ORPHA:565624
HP:0010993	Abnormal cerebral subcortex morphology	23209	MLC1	OMIM:604004
HP:0010993	Abnormal cerebral subcortex morphology	2067	ERCC1	ORPHA:90322
HP:0010993	Abnormal cerebral subcortex morphology	79600	TCTN1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	79600	TCTN1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	91147	TMEM67	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	91147	TMEM67	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	91147	TMEM67	ORPHA:1454
HP:0010993	Abnormal cerebral subcortex morphology	200894	ARL13B	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	9731	CEP104	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	23247	KATNIP	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	219854	TMEM218	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	79867	TCTN2	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	79867	TCTN2	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	80776	B9D2	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	80776	B9D2	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	10464	PIBF1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	23116	TOGARAM1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	25776	CBY1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	27077	B9D1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	27077	B9D1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	403	ARL3	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	3981	LIG4	ORPHA:235
HP:0010993	Abnormal cerebral subcortex morphology	54888	NSUN2	ORPHA:235
HP:0010993	Abnormal cerebral subcortex morphology	27238	GPKOW	ORPHA:2570
HP:0010993	Abnormal cerebral subcortex morphology	6197	RPS6KA3	ORPHA:192
HP:0010993	Abnormal cerebral subcortex morphology	3265	HRAS	ORPHA:2612
HP:0010993	Abnormal cerebral subcortex morphology	4893	NRAS	ORPHA:2612
HP:0010993	Abnormal cerebral subcortex morphology	64327	LMBR1	ORPHA:2378
HP:0010993	Abnormal cerebral subcortex morphology	673	BRAF	OMIM:115150
HP:0010993	Abnormal cerebral subcortex morphology	95	ACY1	ORPHA:137754
HP:0010993	Abnormal cerebral subcortex morphology	6925	TCF4	ORPHA:2896
HP:0010993	Abnormal cerebral subcortex morphology	29072	SETD2	ORPHA:821
HP:0010993	Abnormal cerebral subcortex morphology	10297	APC2	ORPHA:821
HP:0010993	Abnormal cerebral subcortex morphology	154881	KCTD7	ORPHA:263516
HP:0010993	Abnormal cerebral subcortex morphology	51633	OTUD6B	ORPHA:505237
HP:0010993	Abnormal cerebral subcortex morphology	54968	TMEM70	ORPHA:1194
HP:0010993	Abnormal cerebral subcortex morphology	51715	RAB23	OMIM:201000
HP:0010993	Abnormal cerebral subcortex morphology	84162	BLTP1	OMIM:617822
HP:0010993	Abnormal cerebral subcortex morphology	2314	FLII	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	23096	IQSEC2	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	10743	RAI1	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	10522	DEAF1	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	51114	ZDHHC9	ORPHA:776
HP:0010993	Abnormal cerebral subcortex morphology	65109	UPF3B	ORPHA:776
HP:0010993	Abnormal cerebral subcortex morphology	5189	PEX1	OMIM:214100
HP:0010993	Abnormal cerebral subcortex morphology	10479	SLC9A6	ORPHA:85278
HP:0010993	Abnormal cerebral subcortex morphology	10225	CD96	ORPHA:1308
HP:0010993	Abnormal cerebral subcortex morphology	79583	TMEM231	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	79583	TMEM231	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	51524	TMEM138	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	23090	ZNF423	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	80184	CEP290	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	80184	CEP290	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	22931	RAB18	ORPHA:2510
HP:0010993	Abnormal cerebral subcortex morphology	128637	TBC1D20	ORPHA:2510
HP:0010993	Abnormal cerebral subcortex morphology	10210	TOPORS	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	5147	PDE6D	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	317662	FAM149B1	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	8260	NAA10	ORPHA:568
HP:0010993	Abnormal cerebral subcortex morphology	54880	BCOR	ORPHA:568
HP:0010993	Abnormal cerebral subcortex morphology	84314	TMEM107	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	57096	RPGRIP1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	79770	TXNDC15	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	9184	BUB3	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	699	BUB1	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	9702	CEP57	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	9319	TRIP13	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	29980	DONSON	OMIM:251230
HP:0010993	Abnormal cerebral subcortex morphology	1203	CLN5	ORPHA:228360
HP:0010993	Abnormal cerebral subcortex morphology	4702	NDUFA8	OMIM:619272
HP:0010993	Abnormal cerebral subcortex morphology	4099	MAG	OMIM:616680
HP:0010993	Abnormal cerebral subcortex morphology	10134	BCAP31	ORPHA:369939
HP:0010993	Abnormal cerebral subcortex morphology	4125	MAN2B1	OMIM:248500
HP:0010993	Abnormal cerebral subcortex morphology	777	CACNA1E	OMIM:618285
HP:0010993	Abnormal cerebral subcortex morphology	64207	IRF2BPL	OMIM:618088
HP:0010993	Abnormal cerebral subcortex morphology	51728	POLR3K	OMIM:619310
HP:0010993	Abnormal cerebral subcortex morphology	10273	STUB1	ORPHA:412057
HP:0010993	Abnormal cerebral subcortex morphology	9255	AIMP1	OMIM:260600
HP:0010993	Abnormal cerebral subcortex morphology	51692	CPSF3	OMIM:619876
HP:0010993	Abnormal cerebral subcortex morphology	4191	MDH2	OMIM:617339
HP:0010993	Abnormal cerebral subcortex morphology	84188	FAR1	ORPHA:447753
HP:0010993	Abnormal cerebral subcortex morphology	23065	EMC1	OMIM:616875
HP:0010993	Abnormal cerebral subcortex morphology	23065	EMC1	ORPHA:480898
HP:0010993	Abnormal cerebral subcortex morphology	51761	ATP8A2	OMIM:615268
HP:0010993	Abnormal cerebral subcortex morphology	9409	PEX16	OMIM:614877
HP:0010993	Abnormal cerebral subcortex morphology	57704	GBA2	ORPHA:320391
HP:0010993	Abnormal cerebral subcortex morphology	79944	L2HGDH	OMIM:236792
HP:0010993	Abnormal cerebral subcortex morphology	1356	CP	ORPHA:48818
HP:0010993	Abnormal cerebral subcortex morphology	120892	LRRK2	OMIM:607060
HP:0010993	Abnormal cerebral subcortex morphology	5071	PRKN	OMIM:600116
HP:0010993	Abnormal cerebral subcortex morphology	2747	GLUD2	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	126	ADH1C	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	6908	TBP	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	4576	MT-TT	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	9627	SNCAIP	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	6311	ATXN2	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	6315	ATXN8OS	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	25793	FBXO7	ORPHA:171695
HP:0010993	Abnormal cerebral subcortex morphology	6622	SNCA	ORPHA:171695
HP:0010993	Abnormal cerebral subcortex morphology	137682	NDUFAF6	OMIM:618239
HP:0010993	Abnormal cerebral subcortex morphology	29968	PSAT1	ORPHA:284417
HP:0010993	Abnormal cerebral subcortex morphology	4677	NARS1	OMIM:619091
HP:0010993	Abnormal cerebral subcortex morphology	23028	KDM1A	ORPHA:477993
HP:0010993	Abnormal cerebral subcortex morphology	23028	KDM1A	OMIM:616728
HP:0010993	Abnormal cerebral subcortex morphology	51075	TMX2	OMIM:618730
HP:0010993	Abnormal cerebral subcortex morphology	112939	NACC1	ORPHA:500545
HP:0010993	Abnormal cerebral subcortex morphology	6513	SLC2A1	ORPHA:168577
HP:0010993	Abnormal cerebral subcortex morphology	347733	TUBB2B	ORPHA:467166
HP:0010993	Abnormal cerebral subcortex morphology	11152	WDR45	ORPHA:329284
HP:0010993	Abnormal cerebral subcortex morphology	27072	VPS41	OMIM:619389
HP:0010993	Abnormal cerebral subcortex morphology	6905	TBCE	ORPHA:496756
HP:0010993	Abnormal cerebral subcortex morphology	23230	VPS13A	ORPHA:2388
HP:0010993	Abnormal cerebral subcortex morphology	54187	NANS	OMIM:610442
HP:0010993	Abnormal cerebral subcortex morphology	23636	NUP62	ORPHA:225154
HP:0010993	Abnormal cerebral subcortex morphology	80704	SLC19A3	ORPHA:263410
HP:0010993	Abnormal cerebral subcortex morphology	26275	HIBCH	ORPHA:88639
HP:0010993	Abnormal cerebral subcortex morphology	2232	FDXR	ORPHA:543470
HP:0010993	Abnormal cerebral subcortex morphology	1528	CYB5A	ORPHA:621
HP:0010993	Abnormal cerebral subcortex morphology	1727	CYB5R3	ORPHA:621
HP:0010993	Abnormal cerebral subcortex morphology	8506	CNTNAP1	OMIM:616286
HP:0010993	Abnormal cerebral subcortex morphology	23474	ETHE1	ORPHA:51188
HP:0010993	Abnormal cerebral subcortex morphology	2737	GLI3	ORPHA:672
HP:0010993	Abnormal cerebral subcortex morphology	10367	MICU1	ORPHA:401768
HP:0010993	Abnormal cerebral subcortex morphology	8802	SUCLG1	ORPHA:17
HP:0010993	Abnormal cerebral subcortex morphology	55532	SLC30A10	ORPHA:309854
HP:0010993	Abnormal cerebral subcortex morphology	443	ASPA	ORPHA:314918
HP:0010993	Abnormal cerebral subcortex morphology	56947	MFF	ORPHA:485421
HP:0010993	Abnormal cerebral subcortex morphology	133686	NADK2	ORPHA:431361
HP:0010993	Abnormal cerebral subcortex morphology	22868	FASTKD2	OMIM:618855
HP:0010993	Abnormal cerebral subcortex morphology	4508	MT-ATP6	ORPHA:644
HP:0010993	Abnormal cerebral subcortex morphology	84705	GTPBP3	ORPHA:444013
HP:0010993	Abnormal cerebral subcortex morphology	56997	COQ8A	ORPHA:139485
HP:0010993	Abnormal cerebral subcortex morphology	10466	COG5	ORPHA:263487
HP:0010993	Abnormal cerebral subcortex morphology	60684	TRAPPC11	ORPHA:369840
HP:0010993	Abnormal cerebral subcortex morphology	128240	NAXE	OMIM:617186
HP:0010993	Abnormal cerebral subcortex morphology	10398	MYL9	OMIM:619365
HP:0010993	Abnormal cerebral subcortex morphology	84668	HYCC1	OMIM:610532
HP:0010993	Abnormal cerebral subcortex morphology	410	ARSA	ORPHA:309271
HP:0010993	Abnormal cerebral subcortex morphology	410	ARSA	ORPHA:309263
HP:0010993	Abnormal cerebral subcortex morphology	410	ARSA	ORPHA:309256
HP:0010993	Abnormal cerebral subcortex morphology	1267	CNP	OMIM:619071
HP:0010993	Abnormal cerebral subcortex morphology	2760	GM2A	ORPHA:309246
HP:0010993	Abnormal cerebral subcortex morphology	84504	NKX6-2	ORPHA:527497
HP:0010993	Abnormal cerebral subcortex morphology	23516	SLC39A14	OMIM:617013
HP:0010993	Abnormal cerebral subcortex morphology	23516	SLC39A14	ORPHA:521406
HP:0010993	Abnormal cerebral subcortex morphology	79853	TM4SF20	OMIM:615432
HP:0010993	Abnormal cerebral subcortex morphology	1822	ATN1	ORPHA:101
HP:0010993	Abnormal cerebral subcortex morphology	7343	UBTF	ORPHA:500180
HP:0010993	Abnormal cerebral subcortex morphology	7343	UBTF	OMIM:617672
HP:0010993	Abnormal cerebral subcortex morphology	221496	LEMD2	OMIM:619322
HP:0010993	Abnormal cerebral subcortex morphology	5917	RARS1	ORPHA:438114
HP:0010993	Abnormal cerebral subcortex morphology	5290	PIK3CA	ORPHA:99802
HP:0010993	Abnormal cerebral subcortex morphology	10000	AKT3	ORPHA:99802
HP:0010993	Abnormal cerebral subcortex morphology	8913	CACNA1G	ORPHA:458803
HP:0010993	Abnormal cerebral subcortex morphology	63899	NSUN3	OMIM:619012
HP:0010993	Abnormal cerebral subcortex morphology	6572	SLC18A3	OMIM:617239
HP:0010993	Abnormal cerebral subcortex morphology	815	CAMK2A	OMIM:617798
HP:0010993	Abnormal cerebral subcortex morphology	2055	CLN8	ORPHA:1947
HP:0010993	Abnormal cerebral subcortex morphology	6821	SUOX	OMIM:272300
HP:0010993	Abnormal cerebral subcortex morphology	2583	B4GALNT1	ORPHA:101006
HP:0010993	Abnormal cerebral subcortex morphology	9420	CYP7B1	OMIM:270800
HP:0010993	Abnormal cerebral subcortex morphology	191	AHCY	ORPHA:88618
HP:0010993	Abnormal cerebral subcortex morphology	6390	SDHB	OMIM:619224
HP:0010993	Abnormal cerebral subcortex morphology	55154	MSTO1	ORPHA:502423
HP:0010993	Abnormal cerebral subcortex morphology	84065	TMEM222	OMIM:619470
HP:0010993	Abnormal cerebral subcortex morphology	7555	CNBP	OMIM:602668
HP:0010993	Abnormal cerebral subcortex morphology	6134	RPL10	OMIM:300998
HP:0010993	Abnormal cerebral subcortex morphology	5058	PAK1	OMIM:618158
HP:0010993	Abnormal cerebral subcortex morphology	92335	STRADA	ORPHA:500533
HP:0010993	Abnormal cerebral subcortex morphology	25974	MMACHC	ORPHA:79282
HP:0010993	Abnormal cerebral subcortex morphology	2783	GNB2	OMIM:619503
HP:0010993	Abnormal cerebral subcortex morphology	85465	SELENOI	OMIM:618768
HP:0010993	Abnormal cerebral subcortex morphology	59	ACTA2	OMIM:613834
HP:0010993	Abnormal cerebral subcortex morphology	80036	TRPM3	OMIM:620224
HP:0010993	Abnormal cerebral subcortex morphology	10060	ABCC9	OMIM:619719
HP:0010993	Abnormal cerebral subcortex morphology	23503	ZFYVE26	ORPHA:100996
HP:0010993	Abnormal cerebral subcortex morphology	51102	MECR	ORPHA:508093
HP:0010993	Abnormal cerebral subcortex morphology	5903	RANBP2	ORPHA:88619
HP:0010993	Abnormal cerebral subcortex morphology	23446	SLC44A1	OMIM:618868
HP:0010993	Abnormal cerebral subcortex morphology	54676	GTPBP2	OMIM:617988
HP:0010993	Abnormal cerebral subcortex morphology	9757	KMT2B	ORPHA:589618
HP:0010993	Abnormal cerebral subcortex morphology	64601	VPS16	OMIM:619291
HP:0010993	Abnormal cerebral subcortex morphology	27183	VPS4A	OMIM:619273
HP:0010993	Abnormal cerebral subcortex morphology	55703	POLR3B	OMIM:614381
HP:0010993	Abnormal cerebral subcortex morphology	57003	CCDC47	OMIM:618268
HP:0010993	Abnormal cerebral subcortex morphology	9759	HDAC4	OMIM:619797
HP:0010993	Abnormal cerebral subcortex morphology	1182	CLCN3	OMIM:619512
HP:0010993	Abnormal cerebral subcortex morphology	1182	CLCN3	OMIM:619517
HP:0010993	Abnormal cerebral subcortex morphology	7862	BRPF1	OMIM:617333
HP:0010993	Abnormal cerebral subcortex morphology	23126	POGZ	OMIM:616364
HP:0010993	Abnormal cerebral subcortex morphology	343450	KCNT2	OMIM:617771
HP:0010993	Abnormal cerebral subcortex morphology	1213	CLTC	OMIM:617854
HP:0010993	Abnormal cerebral subcortex morphology	23040	MYT1L	OMIM:616521
HP:0010993	Abnormal cerebral subcortex morphology	2972	BRF1	OMIM:616202
HP:0010993	Abnormal cerebral subcortex morphology	3839	KPNA3	OMIM:620106
HP:0010993	Abnormal cerebral subcortex morphology	11340	EXOSC8	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	5393	EXOSC9	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	51010	EXOSC3	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	7443	VRK1	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	91137	SLC25A46	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	4897	NRCAM	OMIM:619833
HP:0010993	Abnormal cerebral subcortex morphology	116115	ZNF526	OMIM:619877
HP:0010993	Abnormal cerebral subcortex morphology	4329	ALDH6A1	OMIM:614105
HP:0010993	Abnormal cerebral subcortex morphology	347734	SLC35B2	OMIM:620269
HP:0010993	Abnormal cerebral subcortex morphology	3008	H1-4	OMIM:617537
HP:0010993	Abnormal cerebral subcortex morphology	55733	HHAT	OMIM:600092
HP:0010993	Abnormal cerebral subcortex morphology	90624	LYRM7	OMIM:615838
HP:0010993	Abnormal cerebral subcortex morphology	1119	CHKA	OMIM:620023
HP:0010993	Abnormal cerebral subcortex morphology	93210	PGAP3	OMIM:615716
HP:0010993	Abnormal cerebral subcortex morphology	83475	DOHH	OMIM:620066
HP:0010993	Abnormal cerebral subcortex morphology	11198	SUPT16H	OMIM:619480
HP:0010993	Abnormal cerebral subcortex morphology	5605	MAP2K2	OMIM:615280
HP:0010993	Abnormal cerebral subcortex morphology	54828	BCAS3	OMIM:619641
HP:0010993	Abnormal cerebral subcortex morphology	374354	NHLRC2	OMIM:618278
HP:0010993	Abnormal cerebral subcortex morphology	9276	COPB2	OMIM:619884
HP:0010993	Abnormal cerebral subcortex morphology	2316	FLNA	OMIM:300049
HP:0010993	Abnormal cerebral subcortex morphology	3020	H3-3A	OMIM:619720
HP:0010993	Abnormal cerebral subcortex morphology	55182	RNF220	OMIM:619688
HP:0010993	Abnormal cerebral subcortex morphology	8867	SYNJ1	OMIM:617389
HP:0010993	Abnormal cerebral subcortex morphology	9442	MED27	OMIM:619286
HP:0010993	Abnormal cerebral subcortex morphology	477	ATP1A2	OMIM:619605
HP:0010993	Abnormal cerebral subcortex morphology	478	ATP1A3	OMIM:619606
HP:0010993	Abnormal cerebral subcortex morphology	166378	AFG2A	OMIM:616577
HP:0010993	Abnormal cerebral subcortex morphology	318	NUDT2	OMIM:619844
HP:0010993	Abnormal cerebral subcortex morphology	3097	HIVEP2	OMIM:616977
HP:0010993	Abnormal cerebral subcortex morphology	10381	TUBB3	OMIM:614039
HP:0010993	Abnormal cerebral subcortex morphology	23031	MAST3	OMIM:620115
HP:0010993	Abnormal cerebral subcortex morphology	84520	GON7	OMIM:619603
HP:0010993	Abnormal cerebral subcortex morphology	6509	SLC1A4	OMIM:616657
HP:0010993	Abnormal cerebral subcortex morphology	9562	MINPP1	OMIM:619527
HP:0010993	Abnormal cerebral subcortex morphology	79158	GNPTAB	OMIM:252500
HP:0010993	Abnormal cerebral subcortex morphology	1759	DNM1	OMIM:620352
HP:0010993	Abnormal cerebral subcortex morphology	23499	MACF1	ORPHA:572013
HP:0010993	Abnormal cerebral subcortex morphology	387119	CEP85L	ORPHA:572013
HP:0010993	Abnormal cerebral subcortex morphology	10430	TMEM147	OMIM:620075
HP:0010993	Abnormal cerebral subcortex morphology	51324	SPG21	OMIM:248900
HP:0010993	Abnormal cerebral subcortex morphology	6595	SMARCA2	OMIM:619293
HP:0010993	Abnormal cerebral subcortex morphology	5934	RBL2	OMIM:619690
HP:0010993	Abnormal cerebral subcortex morphology	5354	PLP1	OMIM:312080
HP:0010993	Abnormal cerebral subcortex morphology	7143	TNR	OMIM:619653
HP:0010993	Abnormal cerebral subcortex morphology	23250	ATP11A	OMIM:619851
HP:0010993	Abnormal cerebral subcortex morphology	4123	MAN2C1	OMIM:619775
HP:0010993	Abnormal cerebral subcortex morphology	203068	TUBB	OMIM:615771
HP:0010993	Abnormal cerebral subcortex morphology	85365	ALG2	OMIM:607906
HP:0010993	Abnormal cerebral subcortex morphology	6601	SMARCC2	OMIM:618362
HP:0010993	Abnormal cerebral subcortex morphology	92255	LMBRD2	OMIM:619694
HP:0010993	Abnormal cerebral subcortex morphology	4781	NFIB	OMIM:618286
HP:0010993	Abnormal cerebral subcortex morphology	111	ADCY5	OMIM:619651
HP:0010993	Abnormal cerebral subcortex morphology	7283	TUBG1	OMIM:615412
HP:0010993	Abnormal cerebral subcortex morphology	23522	KAT6B	OMIM:606170
HP:0010993	Abnormal cerebral subcortex morphology	11232	POLG2	OMIM:618528
HP:0010993	Abnormal cerebral subcortex morphology	9487	PIGL	OMIM:280000
HP:0010993	Abnormal cerebral subcortex morphology	3796	KIF2A	OMIM:615411
HP:0010993	Abnormal cerebral subcortex morphology	23219	FBXO28	OMIM:619777
HP:0010993	Abnormal cerebral subcortex morphology	1107	CHD3	OMIM:618205
HP:0010993	Abnormal cerebral subcortex morphology	7920	ABHD16A	OMIM:619735
HP:0010993	Abnormal cerebral subcortex morphology	9439	MED23	OMIM:614249
HP:0010993	Abnormal cerebral subcortex morphology	819	CAMLG	OMIM:620201
HP:0010993	Abnormal cerebral subcortex morphology	51608	GET4	OMIM:620200
HP:0010993	Abnormal cerebral subcortex morphology	80208	SPG11	OMIM:602099
HP:0010993	Abnormal cerebral subcortex morphology	2801	GOLGA2	OMIM:620240
HP:0010993	Abnormal cerebral subcortex morphology	54806	AHI1	OMIM:608629
HP:0010993	Abnormal cerebral subcortex morphology	2898	GRIK2	OMIM:619580
HP:0010993	Abnormal cerebral subcortex morphology	26175	LYSET	OMIM:619345
HP:0010993	Abnormal cerebral subcortex morphology	283987	HID1	OMIM:619983
HP:0010993	Abnormal cerebral subcortex morphology	10159	ATP6AP2	OMIM:300423
HP:0010993	Abnormal cerebral subcortex morphology	5442	POLRMT	OMIM:619743
HP:0010993	Abnormal cerebral subcortex morphology	127833	SYT2	OMIM:619461
HP:0010993	Abnormal cerebral subcortex morphology	3980	LIG3	OMIM:619780
HP:0010993	Abnormal cerebral subcortex morphology	1892	ECHS1	OMIM:616277
HP:0010993	Abnormal cerebral subcortex morphology	79587	CARS2	OMIM:616672
HP:0010993	Abnormal cerebral subcortex morphology	2720	GLB1	OMIM:253010
HP:0010993	Abnormal cerebral subcortex morphology	221927	BRAT1	OMIM:614498
HP:0010993	Abnormal cerebral subcortex morphology	58497	PRUNE1	ORPHA:544469
HP:0010993	Abnormal cerebral subcortex morphology	4338	MOCS2	OMIM:252160
HP:0010993	Abnormal cerebral subcortex morphology	3708	ITPR1	OMIM:206700
HP:0010993	Abnormal cerebral subcortex morphology	9230	RAB11B	OMIM:617807
HP:0010993	Abnormal cerebral subcortex morphology	9907	AP5Z1	OMIM:613647
HP:0010993	Abnormal cerebral subcortex morphology	79152	FA2H	OMIM:612319
HP:0010993	Abnormal cerebral subcortex morphology	5297	PI4KA	OMIM:619708
HP:0010993	Abnormal cerebral subcortex morphology	7074	TIAM1	OMIM:619908
HP:0010993	Abnormal cerebral subcortex morphology	10533	ATG7	OMIM:619422
HP:0010993	Abnormal cerebral subcortex morphology	55252	ASXL2	OMIM:617190
HP:0010993	Abnormal cerebral subcortex morphology	4704	NDUFA9	OMIM:618247
HP:0010993	Abnormal cerebral subcortex morphology	375	ARF1	OMIM:618185
HP:0010993	Abnormal cerebral subcortex morphology	5119	CHMP1A	OMIM:614961
HP:0010993	Abnormal cerebral subcortex morphology	6709	SPTAN1	OMIM:613477
HP:0010993	Abnormal cerebral subcortex morphology	56270	WDR45B	OMIM:617977
HP:0010993	Abnormal cerebral subcortex morphology	54675	CRLS1	OMIM:620167
HP:0010993	Abnormal cerebral subcortex morphology	4695	NDUFA2	OMIM:618235
HP:0010993	Abnormal cerebral subcortex morphology	1496	CTNNA2	OMIM:618174
HP:0010993	Abnormal cerebral subcortex morphology	51506	UFC1	OMIM:618076
HP:0010993	Abnormal cerebral subcortex morphology	4700	NDUFA6	OMIM:618253
HP:0010993	Abnormal cerebral subcortex morphology	3658	IREB2	OMIM:618451
HP:0010993	Abnormal cerebral subcortex morphology	7280	TUBB2A	OMIM:615763
HP:0010993	Abnormal cerebral subcortex morphology	27445	PCLO	OMIM:608027
HP:0010993	Abnormal cerebral subcortex morphology	10978	CLP1	OMIM:615803
HP:0010993	Abnormal cerebral subcortex morphology	4929	NR4A2	OMIM:619911
HP:0010993	Abnormal cerebral subcortex morphology	8622	PDE8B	OMIM:609161
HP:0010993	Abnormal cerebral subcortex morphology	3064	HTT	ORPHA:399
HP:0010993	Abnormal cerebral subcortex morphology	6515	SLC2A3	ORPHA:399
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276238
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276244
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276241
HP:0010993	Abnormal cerebral subcortex morphology	10535	RNASEH2A	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	84153	RNASEH2C	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	25939	SAMHD1	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	79621	RNASEH2B	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	103	ADAR	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	11277	TREX1	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	100147744	RNU7-1	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	134353	LSM11	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	64135	IFIH1	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	54704	PDP1	ORPHA:79246
HP:0010993	Abnormal cerebral subcortex morphology	4854	NOTCH3	ORPHA:136
HP:0010993	Abnormal cerebral subcortex morphology	2548	GAA	ORPHA:308552
HP:0010993	Abnormal cerebral subcortex morphology	2643	GCH1	ORPHA:98808
HP:0010993	Abnormal cerebral subcortex morphology	3615	IMPDH2	ORPHA:98808
HP:0010993	Abnormal cerebral subcortex morphology	29960	MRM2	OMIM:618567
HP:0010993	Abnormal cerebral subcortex morphology	5610	EIF2AK2	OMIM:618877
HP:0010993	Abnormal cerebral subcortex morphology	10846	PDE10A	OMIM:616921
HP:0010993	Abnormal cerebral subcortex morphology	10846	PDE10A	ORPHA:494526
HP:0010993	Abnormal cerebral subcortex morphology	6857	SYT1	ORPHA:522077
HP:0010993	Abnormal cerebral subcortex morphology	7355	SLC35A2	ORPHA:356961
HP:0010993	Abnormal cerebral subcortex morphology	129685	TAF8	OMIM:619972
HP:0010993	Abnormal cerebral subcortex morphology	4047	LSS	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	197	AHSG	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	3694	ITGB6	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	9997	SCO2	OMIM:604377
HP:0010993	Abnormal cerebral subcortex morphology	9997	SCO2	ORPHA:70474
HP:0010993	Abnormal cerebral subcortex morphology	4137	MAPT	OMIM:601104
HP:0010993	Abnormal cerebral subcortex morphology	25915	NDUFAF3	ORPHA:70474
HP:0010993	Abnormal cerebral subcortex morphology	4714	NDUFB8	ORPHA:70474
HP:0010993	Abnormal cerebral subcortex morphology	4720	NDUFS2	ORPHA:70474
HP:0010993	Abnormal cerebral subcortex morphology	6834	SURF1	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	1641	DCX	ORPHA:2148
HP:0010994	Abnormal corpus striatum morphology	2639	GCDH	ORPHA:25
HP:0010994	Abnormal corpus striatum morphology	347733	TUBB2B	ORPHA:300573
HP:0010994	Abnormal corpus striatum morphology	23400	ATP13A2	ORPHA:314632
HP:0010994	Abnormal corpus striatum morphology	25915	NDUFAF3	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	4714	NDUFB8	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	4720	NDUFS2	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	9997	SCO2	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	6834	SURF1	ORPHA:70474
HP:0010994	Abnormal corpus striatum morphology	54209	TREM2	OMIM:618193
HP:0010994	Abnormal corpus striatum morphology	1678	TIMM8A	ORPHA:52368
HP:0010994	Abnormal corpus striatum morphology	3064	HTT	ORPHA:399
HP:0010994	Abnormal corpus striatum morphology	3064	HTT	OMIM:617435
HP:0010994	Abnormal corpus striatum morphology	6515	SLC2A3	ORPHA:399
HP:0010994	Abnormal corpus striatum morphology	26580	BSCL2	ORPHA:363400
HP:0010994	Abnormal corpus striatum morphology	2512	FTL	ORPHA:157846
HP:0010994	Abnormal corpus striatum morphology	7305	TYROBP	OMIM:221770
HP:0010994	Abnormal corpus striatum morphology	23230	VPS13A	OMIM:200150
HP:0010994	Abnormal corpus striatum morphology	23230	VPS13A	ORPHA:2388
HP:0010994	Abnormal corpus striatum morphology	4750	NEK1	OMIM:617892
HP:0010994	Abnormal corpus striatum morphology	93986	FOXP2	ORPHA:209908
HP:0010994	Abnormal corpus striatum morphology	79133	NDUFAF5	OMIM:618238
HP:0010994	Abnormal corpus striatum morphology	4983	OPHN1	ORPHA:137831
HP:0010994	Abnormal corpus striatum morphology	57338	JPH3	ORPHA:98934
HP:0010994	Abnormal corpus striatum morphology	4508	MT-ATP6	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	23636	NUP62	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	103	ADAR	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	9131	AIFM1	ORPHA:238329
HP:0010994	Abnormal corpus striatum morphology	87178	PNPT1	ORPHA:319514
HP:0010994	Abnormal corpus striatum morphology	80347	COASY	ORPHA:397725
HP:0010994	Abnormal corpus striatum morphology	1356	CP	ORPHA:48818
HP:0010994	Abnormal corpus striatum morphology	10846	PDE10A	ORPHA:494541
HP:0010994	Abnormal corpus striatum morphology	10846	PDE10A	OMIM:616922
HP:0010994	Abnormal corpus striatum morphology	54820	NDE1	ORPHA:2177
HP:0010994	Abnormal corpus striatum morphology	11128	POLR3A	ORPHA:3455
HP:0010994	Abnormal corpus striatum morphology	51102	MECR	ORPHA:508093
HP:0010994	Abnormal corpus striatum morphology	5903	RANBP2	ORPHA:88619
HP:0010994	Abnormal corpus striatum morphology	10381	TUBB3	OMIM:614039
HP:0010994	Abnormal corpus striatum morphology	8622	PDE8B	OMIM:609161
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276238
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276244
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276241
HP:0010994	Abnormal corpus striatum morphology	10535	RNASEH2A	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	84153	RNASEH2C	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	25939	SAMHD1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	79621	RNASEH2B	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	11277	TREX1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	100147744	RNU7-1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	134353	LSM11	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	64135	IFIH1	ORPHA:51
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4953	ODC1	OMIM:619075
HP:0010995	Abnormal circulating dicarboxylic acid concentration	229	ALDOB	OMIM:229600
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54914	FOCAD	OMIM:619991
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2936	GSR	OMIM:618660
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6711	SPTBN1	OMIM:619475
HP:0010995	Abnormal circulating dicarboxylic acid concentration	222546	RFX6	OMIM:615710
HP:0010995	Abnormal circulating dicarboxylic acid concentration	100151683	RNU4ATAC	OMIM:210710
HP:0010995	Abnormal circulating dicarboxylic acid concentration	132	ADK	OMIM:614300
HP:0010995	Abnormal circulating dicarboxylic acid concentration	57539	WDR35	OMIM:613610
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9420	CYP7B1	OMIM:613812
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9420	CYP7B1	ORPHA:79302
HP:0010995	Abnormal circulating dicarboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0010995	Abnormal circulating dicarboxylic acid concentration	286	ANK1	OMIM:182900
HP:0010995	Abnormal circulating dicarboxylic acid concentration	286	ANK1	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2038	EPB42	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7849	PAX8	OMIM:218700
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5443	POMC	OMIM:609734
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6573	SLC19A1	OMIM:601775
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0010995	Abnormal circulating dicarboxylic acid concentration	374879	ZNF699	OMIM:619488
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5244	ABCB4	ORPHA:69665
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3098	HK1	OMIM:235700
HP:0010995	Abnormal circulating dicarboxylic acid concentration	226	ALDOA	OMIM:611881
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5015	OTX2	OMIM:613986
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9338	TCEAL1	OMIM:301094
HP:0010995	Abnormal circulating dicarboxylic acid concentration	540	ATP7B	OMIM:277900
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2271	FH	OMIM:606812
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9968	MED12	OMIM:301068
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9493	KIF23	ORPHA:98870
HP:0010995	Abnormal circulating dicarboxylic acid concentration	29127	RACGAP1	ORPHA:98870
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55687	TRMU	OMIM:613070
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3930	LBR	OMIM:613471
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8260	NAA10	OMIM:300855
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5824	PEX19	OMIM:614886
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9451	EIF2AK3	ORPHA:1667
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1716	DGUOK	OMIM:251880
HP:0010995	Abnormal circulating dicarboxylic acid concentration	28962	OSTM1	OMIM:259720
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4547	MTTP	ORPHA:14
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0010995	Abnormal circulating dicarboxylic acid concentration	146059	CDAN1	OMIM:224120
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5230	PGK1	ORPHA:713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6006	RHCE	ORPHA:71275
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6007	RHD	ORPHA:71275
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6309	SC5D	OMIM:607330
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1244	ABCC2	ORPHA:234
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1244	ABCC2	OMIM:237500
HP:0010995	Abnormal circulating dicarboxylic acid concentration	80270	HSD3B7	OMIM:607765
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3376	IARS1	OMIM:617093
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8647	ABCB11	OMIM:601847
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8647	ABCB11	OMIM:605479
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79989	IFT56	OMIM:619534
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51218	GLRX5	OMIM:616860
HP:0010995	Abnormal circulating dicarboxylic acid concentration	26503	SLC17A5	OMIM:269920
HP:0010995	Abnormal circulating dicarboxylic acid concentration	570	BAAT	OMIM:619232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7019	TFAM	OMIM:617156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5828	PEX2	OMIM:614866
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5205	ATP8B1	OMIM:211600
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5205	ATP8B1	OMIM:243300
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5195	PEX14	OMIM:614887
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6513	SLC2A1	ORPHA:168577
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6513	SLC2A1	OMIM:608885
HP:0010995	Abnormal circulating dicarboxylic acid concentration	28234	SLCO1B3	OMIM:237450
HP:0010995	Abnormal circulating dicarboxylic acid concentration	28234	SLCO1B3	ORPHA:3111
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10599	SLCO1B1	OMIM:237450
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10599	SLCO1B1	ORPHA:3111
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5314	PKHD1	ORPHA:53035
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0010995	Abnormal circulating dicarboxylic acid concentration	197131	UBR1	OMIM:243800
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3594	IL12RB1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	23534	TNPO3	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3592	IL12A	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6689	SPIB	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5450	POU2AF1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9966	TNFSF15	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79258	MMEL1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3663	IRF5	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	26276	VPS33B	OMIM:208085
HP:0010995	Abnormal circulating dicarboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0010995	Abnormal circulating dicarboxylic acid concentration	200931	SLC51A	OMIM:619484
HP:0010995	Abnormal circulating dicarboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9971	NR1H4	OMIM:617049
HP:0010995	Abnormal circulating dicarboxylic acid concentration	63894	VIPAS39	OMIM:613404
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4552	MTRR	OMIM:236270
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8802	SUCLG1	ORPHA:17
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8803	SUCLA2	OMIM:612073
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0010995	Abnormal circulating dicarboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0010995	Abnormal circulating dicarboxylic acid concentration	25974	MMACHC	OMIM:277400
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3054	HCFC1	OMIM:309541
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4329	ALDH6A1	OMIM:614105
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51293	CD320	OMIM:613646
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4548	MTR	OMIM:250940
HP:0010995	Abnormal circulating dicarboxylic acid concentration	27249	MMADHC	OMIM:277410
HP:0010995	Abnormal circulating dicarboxylic acid concentration	326625	MMAB	OMIM:251110
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4594	MMUT	OMIM:251000
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5052	PRDX1	OMIM:277400
HP:0010995	Abnormal circulating dicarboxylic acid concentration	166785	MMAA	OMIM:251100
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2035	EPB41	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2995	GYPC	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6710	SPTB	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6708	SPTA1	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6708	SPTA1	OMIM:130600
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3479	IGF1	ORPHA:73272
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7355	SLC35A2	OMIM:300896
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1371	CPOX	OMIM:618892
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2876	GPX1	OMIM:614164
HP:0010995	Abnormal circulating dicarboxylic acid concentration	405753	DUOXA2	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6528	SLC5A5	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7038	TG	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7173	TPO	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	389434	IYD	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	50506	DUOX2	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7319	UBE2A	ORPHA:163956
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5048	PAFAH1B1	ORPHA:95232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54658	UGT1A1	ORPHA:79234
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54658	UGT1A1	ORPHA:79235
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6521	SLC4A1	ORPHA:3202
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9780	PIEZO1	ORPHA:3202
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3783	KCNN4	ORPHA:3202
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7253	TSHR	ORPHA:90673
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7252	TSHB	ORPHA:90674
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2203	FBP1	ORPHA:348
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79783	SUGCT	ORPHA:35706
HP:0010995	Abnormal circulating dicarboxylic acid concentration	131118	DNAJC19	ORPHA:66634
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2108	ETFA	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2109	ETFB	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2110	ETFDH	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2639	GCDH	OMIM:231670
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5551	PRF1	OMIM:603553
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1376	CPT2	OMIM:608836
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51601	LIPT1	OMIM:616299
HP:0010995	Abnormal circulating dicarboxylic acid concentration	11232	POLG2	OMIM:618528
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5213	PFKM	OMIM:232800
HP:0010995	Abnormal circulating dicarboxylic acid concentration	11231	SEC63	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5589	PRKCSH	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5589	PRKCSH	OMIM:174050
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4041	LRP5	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51473	DCDC2	ORPHA:84081
HP:0010995	Abnormal circulating dicarboxylic acid concentration	91147	TMEM67	ORPHA:84081
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5313	PKLR	OMIM:266200
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5313	PKLR	ORPHA:766
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3043	HBB	ORPHA:232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55532	SLC30A10	OMIM:613280
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0010995	Abnormal circulating dicarboxylic acid concentration	374354	NHLRC2	OMIM:618278
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10661	KLF1	OMIM:613673
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8573	CASK	OMIM:300908
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2539	G6PD	OMIM:300908
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6005	RHAG	OMIM:268150
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10056	FARSB	OMIM:613658
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7390	UROS	ORPHA:79277
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2623	GATA1	ORPHA:79277
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8085	KMT2D	OMIM:620186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5277	PIGA	ORPHA:447
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2222	FDFT1	OMIM:618156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7385	UQCRC2	OMIM:615160
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0010995	Abnormal circulating dicarboxylic acid concentration	501	ALDH7A1	OMIM:266100
HP:0010995	Abnormal circulating dicarboxylic acid concentration	644	BLVRA	OMIM:614156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	197322	ACSF3	ORPHA:289504
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3418	IDH2	OMIM:613657
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79944	L2HGDH	OMIM:236792
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1497	CTNS	OMIM:219800
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1738	DLD	ORPHA:2394
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3155	HMGCL	OMIM:246450
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4556	MT-TE	ORPHA:254864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55687	TRMU	ORPHA:254864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	37	ACADVL	OMIM:201475
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4695	NDUFA2	OMIM:618235
HP:0010996	Abnormal circulating monocarboxylic acid concentration	34	ACADM	OMIM:201450
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1294	COL7A1	ORPHA:89842
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27034	ACAD8	OMIM:611283
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27034	ACAD8	ORPHA:79159
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3033	HADH	ORPHA:71212
HP:0010996	Abnormal circulating monocarboxylic acid concentration	28976	ACAD9	ORPHA:99901
HP:0010996	Abnormal circulating monocarboxylic acid concentration	64087	MCCC2	OMIM:210210
HP:0010996	Abnormal circulating monocarboxylic acid concentration	788	SLC25A20	ORPHA:159
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1962	EHHADH	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	2628	GATM	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6569	SLC34A1	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6584	SLC22A5	OMIM:212140
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6341	SCO1	OMIM:619048
HP:0010996	Abnormal circulating monocarboxylic acid concentration	133686	NADK2	ORPHA:431361
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	OMIM:608836
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	ORPHA:228305
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	ORPHA:228308
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4312	MMP1	ORPHA:79408
HP:0010996	Abnormal circulating monocarboxylic acid concentration	283209	PGM2L1	OMIM:620191
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9414	TJP2	OMIM:607748
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5205	ATP8B1	OMIM:243300
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5205	ATP8B1	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6888	TALDO1	ORPHA:101028
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5244	ABCB4	OMIM:602347
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5244	ABCB4	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55898	UNC45A	OMIM:619377
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0010996	Abnormal circulating monocarboxylic acid concentration	57003	CCDC47	OMIM:618268
HP:0010996	Abnormal circulating monocarboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0010996	Abnormal circulating monocarboxylic acid concentration	162	AP1B1	OMIM:242150
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0010996	Abnormal circulating monocarboxylic acid concentration	8647	ABCB11	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9971	NR1H4	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0010996	Abnormal circulating monocarboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0010996	Abnormal circulating monocarboxylic acid concentration	199221	DZIP1L	ORPHA:731
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5314	PKHD1	ORPHA:731
HP:0010996	Abnormal circulating monocarboxylic acid concentration	134218	DNAJC21	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	79631	EFL1	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51119	SBDS	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6729	SRP54	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0010996	Abnormal circulating monocarboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0010996	Abnormal circulating monocarboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0010996	Abnormal circulating monocarboxylic acid concentration	84693	MCEE	OMIM:251120
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27247	NFU1	OMIM:605711
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51241	COX16	OMIM:619355
HP:0010996	Abnormal circulating monocarboxylic acid concentration	23474	ETHE1	OMIM:602473
HP:0010996	Abnormal circulating monocarboxylic acid concentration	123264	SLC51B	OMIM:619481
HP:0010996	Abnormal circulating monocarboxylic acid concentration	10059	DNM1L	OMIM:614388
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55670	PEX26	OMIM:614872
HP:0010996	Abnormal circulating monocarboxylic acid concentration	35	ACADS	ORPHA:26792
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55065	SLC52A1	OMIM:615026
HP:0010996	Abnormal circulating monocarboxylic acid concentration	128989	TANGO2	OMIM:616878
HP:0010996	Abnormal circulating monocarboxylic acid concentration	128989	TANGO2	ORPHA:480864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	90624	LYRM7	OMIM:615838
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3030	HADHA	OMIM:609015
HP:0010997	Chromosomal breakage induced by ionizing radiation	10111	RAD50	OMIM:613078
HP:0010997	Chromosomal breakage induced by ionizing radiation	8314	BAP1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	4771	NF2	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6598	SMARCB1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	5155	PDGFB	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	84231	TRAF7	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6608	SMO	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	207	AKT1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	5290	PIK3CA	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	7015	TERT	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	51684	SUFU	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6605	SMARCE1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	165918	RNF168	ORPHA:420741
HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	7156	TOP3A	OMIM:618097
HP:0010999	Aplasia of the optic tract	652	BMP4	OMIM:607932
HP:0010990	Abnormality of the common coagulation pathway	2542	SLC37A4	OMIM:619525
HP:0010990	Abnormality of the common coagulation pathway	90411	MCFD2	OMIM:613625
HP:0010990	Abnormality of the common coagulation pathway	90411	MCFD2	ORPHA:35909
HP:0010990	Abnormality of the common coagulation pathway	2153	F5	OMIM:227400
HP:0010990	Abnormality of the common coagulation pathway	3998	LMAN1	OMIM:227300
HP:0010990	Abnormality of the common coagulation pathway	3998	LMAN1	ORPHA:35909
HP:0010990	Abnormality of the common coagulation pathway	2677	GGCX	OMIM:277450
HP:0010990	Abnormality of the common coagulation pathway	2677	GGCX	OMIM:610842
HP:0010990	Abnormality of the common coagulation pathway	2159	F10	OMIM:227600
HP:0010990	Abnormality of the common coagulation pathway	2159	F10	ORPHA:328
HP:0010990	Abnormality of the common coagulation pathway	79001	VKORC1	OMIM:607473
HP:0010990	Abnormality of the common coagulation pathway	196527	ANO6	OMIM:262890
HP:0010990	Abnormality of the common coagulation pathway	5604	MAP2K1	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	5781	PTPN11	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	673	BRAF	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	4247	MGAT2	ORPHA:79329
HP:0010990	Abnormality of the common coagulation pathway	3689	ITGB2	OMIM:116920
HP:0010990	Abnormality of the common coagulation pathway	9056	SLC7A7	ORPHA:470
HP:0010990	Abnormality of the common coagulation pathway	201294	UNC13D	OMIM:608898
HP:0010990	Abnormality of the common coagulation pathway	201294	UNC13D	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	2243	FGA	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	2244	FGB	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	2266	FGG	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	9630	GNA14	ORPHA:1063
HP:0010990	Abnormality of the common coagulation pathway	55388	MCM10	OMIM:619313
HP:0010990	Abnormality of the common coagulation pathway	331	XIAP	OMIM:300635
HP:0010990	Abnormality of the common coagulation pathway	2038	EPB42	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6521	SLC4A1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6710	SPTB	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6708	SPTA1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	286	ANK1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	1130	LYST	ORPHA:167
HP:0010990	Abnormality of the common coagulation pathway	5551	PRF1	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	5551	PRF1	OMIM:603553
HP:0010990	Abnormality of the common coagulation pathway	8676	STX11	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	8676	STX11	OMIM:603552
HP:0010990	Abnormality of the common coagulation pathway	6813	STXBP2	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	6774	STAT3	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5371	PML	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5914	RARA	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	359948	IRF2BP2	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	81608	FIP1L1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	4869	NPM1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5573	PRKAR1A	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	54880	BCOR	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	64859	NABP1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	6777	STAT5B	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	4926	NUMA1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	7704	ZBTB16	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	79718	TBL1XR1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	58484	NLRC4	OMIM:616050
HP:0010990	Abnormality of the common coagulation pathway	191	AHCY	ORPHA:88618
HP:0010990	Abnormality of the common coagulation pathway	84868	HAVCR2	OMIM:618398
HP:0010990	Abnormality of the common coagulation pathway	3075	CFH	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	3426	CFI	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	4179	CD46	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	101101692	HELLPAR	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	55768	NGLY1	ORPHA:404454
HP:0010990	Abnormality of the common coagulation pathway	3273	HRG	OMIM:613116
HP:0010990	Abnormality of the common coagulation pathway	5340	PLG	OMIM:217090
HP:0010990	Abnormality of the common coagulation pathway	5340	PLG	ORPHA:722
HP:0010990	Abnormality of the common coagulation pathway	2162	F13A1	OMIM:613225
HP:0010990	Abnormality of the common coagulation pathway	2165	F13B	OMIM:613235
HP:0010990	Abnormality of the common coagulation pathway	5054	SERPINE1	ORPHA:465
HP:0010990	Abnormality of the common coagulation pathway	4351	MPI	ORPHA:79319
HP:0010990	Abnormality of the common coagulation pathway	462	SERPINC1	ORPHA:82
HP:0010990	Abnormality of the common coagulation pathway	29929	ALG6	ORPHA:79320
HP:0010990	Abnormality of the common coagulation pathway	79087	ALG12	ORPHA:79324
HP:0007935	Juvenile posterior subcapsular lenticular opacities	4771	NF2	OMIM:101000
HP:0007937	Reticular pigmentary degeneration	2202	EFEMP1	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	2202	EFEMP1	OMIM:126600
HP:0007937	Reticular pigmentary degeneration	3075	CFH	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	3426	CFI	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	5456	POU3F4	ORPHA:1435
HP:0007939	Blue cone monochromacy	2652	OPN1MW	ORPHA:16
HP:0007939	Blue cone monochromacy	2652	OPN1MW	OMIM:303700
HP:0007939	Blue cone monochromacy	5956	OPN1LW	ORPHA:16
HP:0007939	Blue cone monochromacy	5956	OPN1LW	OMIM:303700
HP:0007941	Limited extraocular movements	347733	TUBB2B	OMIM:610031
HP:0007941	Limited extraocular movements	3295	HSD17B4	OMIM:233400
HP:0007941	Limited extraocular movements	9997	SCO2	OMIM:604377
HP:0007941	Limited extraocular movements	9997	SCO2	ORPHA:70474
HP:0007941	Limited extraocular movements	8292	COLQ	ORPHA:98915
HP:0007941	Limited extraocular movements	3913	LAMB2	ORPHA:98915
HP:0007941	Limited extraocular movements	203547	VMA21	OMIM:310440
HP:0007941	Limited extraocular movements	11261	CHP1	OMIM:618438
HP:0007941	Limited extraocular movements	84504	NKX6-2	OMIM:617560
HP:0007941	Limited extraocular movements	6843	VAMP1	OMIM:618323
HP:0007941	Limited extraocular movements	127833	SYT2	OMIM:619461
HP:0007941	Limited extraocular movements	25915	NDUFAF3	ORPHA:70474
HP:0007941	Limited extraocular movements	4714	NDUFB8	ORPHA:70474
HP:0007941	Limited extraocular movements	4720	NDUFS2	ORPHA:70474
HP:0007941	Limited extraocular movements	6834	SURF1	ORPHA:70474
HP:0007942	Internal ophthalmoplegia	64072	CDH23	ORPHA:91347
HP:0007942	Internal ophthalmoplegia	64072	CDH23	ORPHA:2965
HP:0007942	Internal ophthalmoplegia	4221	MEN1	ORPHA:2965
HP:0007942	Internal ophthalmoplegia	9049	AIP	ORPHA:2965
HP:0007943	Congenital stapes ankylosis	9241	NOG	OMIM:184460
HP:0007944	Intermittent microsaccadic pursuits	339453	TMEM240	ORPHA:98773
HP:0007944	Intermittent microsaccadic pursuits	3752	KCND3	OMIM:607346
HP:0000782	Abnormal scapula morphology	2879	GPX4	ORPHA:93317
HP:0000782	Abnormal scapula morphology	3930	LBR	OMIM:215140
HP:0000782	Abnormal scapula morphology	54808	DYM	OMIM:223800
HP:0000782	Abnormal scapula morphology	54808	DYM	OMIM:607326
HP:0000782	Abnormal scapula morphology	9321	TRIP11	OMIM:200600
HP:0000782	Abnormal scapula morphology	340419	RSPO2	OMIM:618022
HP:0000782	Abnormal scapula morphology	50814	NSDHL	OMIM:308050
HP:0000782	Abnormal scapula morphology	2260	FGFR1	OMIM:166250
HP:0000782	Abnormal scapula morphology	1280	COL2A1	ORPHA:85166
HP:0000782	Abnormal scapula morphology	3636	INPPL1	ORPHA:3144
HP:0000782	Abnormal scapula morphology	23169	SLC35D1	ORPHA:3144
HP:0000782	Abnormal scapula morphology	23169	SLC35D1	OMIM:269250
HP:0000782	Abnormal scapula morphology	6913	TBX15	ORPHA:93333
HP:0000782	Abnormal scapula morphology	6913	TBX15	OMIM:260660
HP:0000782	Abnormal scapula morphology	145258	GSC	OMIM:602471
HP:0000782	Abnormal scapula morphology	5447	POR	ORPHA:95699
HP:0000782	Abnormal scapula morphology	60	ACTB	ORPHA:79107
HP:0000782	Abnormal scapula morphology	60	ACTB	OMIM:607371
HP:0000782	Abnormal scapula morphology	57539	WDR35	OMIM:614091
HP:0000782	Abnormal scapula morphology	6926	TBX3	OMIM:181450
HP:0000782	Abnormal scapula morphology	860	RUNX2	OMIM:119600
HP:0000782	Abnormal scapula morphology	860	RUNX2	ORPHA:1452
HP:0000782	Abnormal scapula morphology	91179	SCARF2	OMIM:600920
HP:0000782	Abnormal scapula morphology	1301	COL11A1	OMIM:228520
HP:0000782	Abnormal scapula morphology	1301	COL11A1	ORPHA:2021
HP:0000782	Abnormal scapula morphology	1301	COL11A1	ORPHA:440354
HP:0000782	Abnormal scapula morphology	54101	RIPK4	OMIM:263650
HP:0000782	Abnormal scapula morphology	2316	FLNA	OMIM:309350
HP:0000782	Abnormal scapula morphology	6662	SOX9	OMIM:114290
HP:0000782	Abnormal scapula morphology	5116	PCNT	OMIM:210720
HP:0000782	Abnormal scapula morphology	1302	COL11A2	ORPHA:2021
HP:0000782	Abnormal scapula morphology	5696	PSMB8	OMIM:256040
HP:0000782	Abnormal scapula morphology	388015	RTL1	ORPHA:96334
HP:0000782	Abnormal scapula morphology	8788	DLK1	ORPHA:96334
HP:0000782	Abnormal scapula morphology	55384	MEG3	ORPHA:96334
HP:0000782	Abnormal scapula morphology	79158	GNPTAB	OMIM:252500
HP:0000782	Abnormal scapula morphology	1947	EFNB1	OMIM:304110
HP:0000782	Abnormal scapula morphology	1947	EFNB1	ORPHA:1520
HP:0000782	Abnormal scapula morphology	6909	TBX2	OMIM:618223
HP:0000782	Abnormal scapula morphology	6910	TBX5	ORPHA:392
HP:0000782	Abnormal scapula morphology	392255	GDF6	OMIM:118100
HP:0000782	Abnormal scapula morphology	392255	GDF6	ORPHA:2345
HP:0000782	Abnormal scapula morphology	6135	RPL11	OMIM:612562
HP:0000782	Abnormal scapula morphology	6135	RPL11	ORPHA:124
HP:0000782	Abnormal scapula morphology	6885	MAP3K7	ORPHA:1826
HP:0000782	Abnormal scapula morphology	54499	TMCO1	OMIM:213980
HP:0000782	Abnormal scapula morphology	54499	TMCO1	ORPHA:1394
HP:0000782	Abnormal scapula morphology	4882	NPR2	ORPHA:40
HP:0000782	Abnormal scapula morphology	1000	CDH2	OMIM:618929
HP:0000782	Abnormal scapula morphology	3339	HSPG2	ORPHA:800
HP:0000782	Abnormal scapula morphology	10262	SF3B4	ORPHA:1788
HP:0000782	Abnormal scapula morphology	6138	RPL15	ORPHA:124
HP:0000782	Abnormal scapula morphology	6229	RPS24	ORPHA:124
HP:0000782	Abnormal scapula morphology	6125	RPL5	ORPHA:124
HP:0000782	Abnormal scapula morphology	6204	RPS10	ORPHA:124
HP:0000782	Abnormal scapula morphology	6224	RPS20	ORPHA:124
HP:0000782	Abnormal scapula morphology	6165	RPL35A	ORPHA:124
HP:0000782	Abnormal scapula morphology	2623	GATA1	ORPHA:124
HP:0000782	Abnormal scapula morphology	6223	RPS19	ORPHA:124
HP:0000782	Abnormal scapula morphology	6232	RPS27	ORPHA:124
HP:0000782	Abnormal scapula morphology	6231	RPS26	ORPHA:124
HP:0000782	Abnormal scapula morphology	11224	RPL35	ORPHA:124
HP:0000782	Abnormal scapula morphology	6160	RPL31	ORPHA:124
HP:0000782	Abnormal scapula morphology	6218	RPS17	ORPHA:124
HP:0000782	Abnormal scapula morphology	6201	RPS7	ORPHA:124
HP:0000782	Abnormal scapula morphology	6155	RPL27	ORPHA:124
HP:0000782	Abnormal scapula morphology	6154	RPL26	ORPHA:124
HP:0000782	Abnormal scapula morphology	6210	RPS15A	ORPHA:124
HP:0000782	Abnormal scapula morphology	90121	TSR2	ORPHA:124
HP:0000782	Abnormal scapula morphology	6141	RPL18	ORPHA:124
HP:0000782	Abnormal scapula morphology	6235	RPS29	ORPHA:124
HP:0000782	Abnormal scapula morphology	6234	RPS28	ORPHA:124
HP:0000782	Abnormal scapula morphology	51816	ADA2	ORPHA:124
HP:0000782	Abnormal scapula morphology	1281	COL3A1	ORPHA:286
HP:0000782	Abnormal scapula morphology	9573	GDF3	ORPHA:2345
HP:0000782	Abnormal scapula morphology	4222	MEOX1	ORPHA:2345
HP:0000782	Abnormal scapula morphology	4222	MEOX1	OMIM:214300
HP:0000782	Abnormal scapula morphology	51729	WBP11	OMIM:619227
HP:0000782	Abnormal scapula morphology	5727	PTCH1	OMIM:109400
HP:0000782	Abnormal scapula morphology	2131	EXT1	ORPHA:321
HP:0000782	Abnormal scapula morphology	2131	EXT1	OMIM:133700
HP:0000782	Abnormal scapula morphology	2132	EXT2	ORPHA:321
HP:0000782	Abnormal scapula morphology	2132	EXT2	OMIM:133701
HP:0000782	Abnormal scapula morphology	23592	LEMD3	ORPHA:166119
HP:0000782	Abnormal scapula morphology	50964	SOST	OMIM:269500
HP:0000782	Abnormal scapula morphology	274	BIN1	ORPHA:169186
HP:0000782	Abnormal scapula morphology	274	BIN1	OMIM:255200
HP:0000782	Abnormal scapula morphology	10290	SPEG	ORPHA:169186
HP:0000782	Abnormal scapula morphology	6261	RYR1	ORPHA:169186
HP:0000782	Abnormal scapula morphology	6261	RYR1	ORPHA:424107
HP:0000782	Abnormal scapula morphology	7273	TTN	ORPHA:169186
HP:0000782	Abnormal scapula morphology	7273	TTN	OMIM:603689
HP:0000782	Abnormal scapula morphology	79912	PYROXD1	OMIM:617258
HP:0000782	Abnormal scapula morphology	9820	CUL7	ORPHA:2616
HP:0000782	Abnormal scapula morphology	9820	CUL7	OMIM:273750
HP:0000782	Abnormal scapula morphology	23363	OBSL1	ORPHA:2616
HP:0000782	Abnormal scapula morphology	23363	OBSL1	OMIM:612921
HP:0000782	Abnormal scapula morphology	83987	CCDC8	ORPHA:2616
HP:0000782	Abnormal scapula morphology	7415	VCP	OMIM:167320
HP:0000782	Abnormal scapula morphology	7415	VCP	ORPHA:435387
HP:0000782	Abnormal scapula morphology	7415	VCP	ORPHA:329478
HP:0000782	Abnormal scapula morphology	825	CAPN3	OMIM:253600
HP:0000782	Abnormal scapula morphology	825	CAPN3	ORPHA:267
HP:0000782	Abnormal scapula morphology	825	CAPN3	OMIM:618129
HP:0000782	Abnormal scapula morphology	6442	SGCA	OMIM:608099
HP:0000782	Abnormal scapula morphology	6442	SGCA	ORPHA:62
HP:0000782	Abnormal scapula morphology	4000	LMNA	OMIM:181350
HP:0000782	Abnormal scapula morphology	4000	LMNA	ORPHA:98855
HP:0000782	Abnormal scapula morphology	4000	LMNA	ORPHA:98853
HP:0000782	Abnormal scapula morphology	8291	DYSF	ORPHA:268
HP:0000782	Abnormal scapula morphology	7084	TK2	ORPHA:254886
HP:0000782	Abnormal scapula morphology	7084	TK2	OMIM:617069
HP:0000782	Abnormal scapula morphology	5428	POLG	ORPHA:254886
HP:0000782	Abnormal scapula morphology	5428	POLG	OMIM:607459
HP:0000782	Abnormal scapula morphology	729920	CRPPA	OMIM:616052
HP:0000782	Abnormal scapula morphology	729920	CRPPA	ORPHA:352479
HP:0000782	Abnormal scapula morphology	55790	CSGALNACT1	OMIM:618870
HP:0000782	Abnormal scapula morphology	58	ACTA1	OMIM:616852
HP:0000782	Abnormal scapula morphology	58	ACTA1	ORPHA:171439
HP:0000782	Abnormal scapula morphology	6443	SGCB	OMIM:604286
HP:0000782	Abnormal scapula morphology	2992	GYG1	OMIM:613507
HP:0000782	Abnormal scapula morphology	25778	DSTYK	OMIM:270750
HP:0000782	Abnormal scapula morphology	29925	GMPPB	ORPHA:353327
HP:0000782	Abnormal scapula morphology	2673	GFPT1	ORPHA:353327
HP:0000782	Abnormal scapula morphology	1798	DPAGT1	ORPHA:353327
HP:0000782	Abnormal scapula morphology	85365	ALG2	ORPHA:353327
HP:0000782	Abnormal scapula morphology	85365	ALG2	OMIM:616228
HP:0000782	Abnormal scapula morphology	199857	ALG14	ORPHA:353327
HP:0000782	Abnormal scapula morphology	10059	DNM1L	ORPHA:98673
HP:0000782	Abnormal scapula morphology	4976	OPA1	ORPHA:98673
HP:0000782	Abnormal scapula morphology	6444	SGCD	OMIM:601287
HP:0000782	Abnormal scapula morphology	6444	SGCD	ORPHA:219
HP:0000782	Abnormal scapula morphology	2273	FHL1	OMIM:300696
HP:0000782	Abnormal scapula morphology	2273	FHL1	OMIM:300695
HP:0000782	Abnormal scapula morphology	2273	FHL1	ORPHA:98863
HP:0000782	Abnormal scapula morphology	2483	FRG1	OMIM:158900
HP:0000782	Abnormal scapula morphology	23347	SMCHD1	OMIM:158901
HP:0000782	Abnormal scapula morphology	55870	ASH1L	OMIM:617796
HP:0000782	Abnormal scapula morphology	8878	SQSTM1	OMIM:617158
HP:0000782	Abnormal scapula morphology	7169	TPM2	OMIM:609285
HP:0000782	Abnormal scapula morphology	7169	TPM2	ORPHA:171439
HP:0000782	Abnormal scapula morphology	64856	VWA1	OMIM:619216
HP:0000782	Abnormal scapula morphology	311	ANXA11	OMIM:619733
HP:0000782	Abnormal scapula morphology	4604	MYBPC1	OMIM:618524
HP:0000782	Abnormal scapula morphology	2138	EYA1	ORPHA:2792
HP:0000782	Abnormal scapula morphology	2138	EYA1	OMIM:166780
HP:0000782	Abnormal scapula morphology	5075	PAX1	ORPHA:2792
HP:0000782	Abnormal scapula morphology	5075	PAX1	OMIM:615560
HP:0000782	Abnormal scapula morphology	4625	MYH7	OMIM:608358
HP:0000782	Abnormal scapula morphology	4625	MYH7	ORPHA:437572
HP:0000782	Abnormal scapula morphology	3759	KCNJ2	OMIM:170390
HP:0000782	Abnormal scapula morphology	5077	PAX3	OMIM:148820
HP:0000782	Abnormal scapula morphology	10020	GNE	ORPHA:602
HP:0000782	Abnormal scapula morphology	4620	MYH2	OMIM:605637
HP:0000782	Abnormal scapula morphology	80324	PUS1	OMIM:600462
HP:0000782	Abnormal scapula morphology	1303	COL12A1	OMIM:616471
HP:0000782	Abnormal scapula morphology	1303	COL12A1	ORPHA:610
HP:0000782	Abnormal scapula morphology	83636	C19orf12	OMIM:614298
HP:0000782	Abnormal scapula morphology	23545	ATP6V0A2	OMIM:278250
HP:0000782	Abnormal scapula morphology	200734	SPRED2	OMIM:619745
HP:0000782	Abnormal scapula morphology	9531	BAG3	OMIM:612954
HP:0000782	Abnormal scapula morphology	4747	NEFL	ORPHA:101085
HP:0000782	Abnormal scapula morphology	2200	FBN1	OMIM:616914
HP:0000782	Abnormal scapula morphology	6445	SGCG	ORPHA:353
HP:0000782	Abnormal scapula morphology	55791	LRIF1	OMIM:619477
HP:0000782	Abnormal scapula morphology	84665	MYPN	OMIM:617336
HP:0000782	Abnormal scapula morphology	84665	MYPN	ORPHA:171439
HP:0000782	Abnormal scapula morphology	5781	PTPN11	ORPHA:500
HP:0000782	Abnormal scapula morphology	5781	PTPN11	OMIM:151100
HP:0000782	Abnormal scapula morphology	673	BRAF	ORPHA:500
HP:0000782	Abnormal scapula morphology	5894	RAF1	ORPHA:500
HP:0000782	Abnormal scapula morphology	7204	TRIO	OMIM:617061
HP:0000782	Abnormal scapula morphology	10220	GDF11	OMIM:619122
HP:0000782	Abnormal scapula morphology	163175	LGI4	OMIM:617468
HP:0000782	Abnormal scapula morphology	8292	COLQ	ORPHA:98915
HP:0000782	Abnormal scapula morphology	3913	LAMB2	ORPHA:98915
HP:0000782	Abnormal scapula morphology	1291	COL6A1	ORPHA:610
HP:0000782	Abnormal scapula morphology	1292	COL6A2	ORPHA:610
HP:0000782	Abnormal scapula morphology	1293	COL6A3	ORPHA:610
HP:0000782	Abnormal scapula morphology	23299	BICD2	OMIM:615290
HP:0000782	Abnormal scapula morphology	11117	EMILIN1	OMIM:620080
HP:0000782	Abnormal scapula morphology	56983	POGLUT1	OMIM:617232
HP:0000782	Abnormal scapula morphology	57479	PRR12	OMIM:619539
HP:0000782	Abnormal scapula morphology	390594	KBTBD13	ORPHA:171439
HP:0000782	Abnormal scapula morphology	4703	NEB	ORPHA:171439
HP:0000782	Abnormal scapula morphology	10324	KLHL41	ORPHA:171439
HP:0000782	Abnormal scapula morphology	7170	TPM3	ORPHA:171439
HP:0000782	Abnormal scapula morphology	2317	FLNB	OMIM:272460
HP:0000782	Abnormal scapula morphology	2010	EMD	ORPHA:98863
HP:0000782	Abnormal scapula morphology	29954	POMT2	ORPHA:206559
HP:0000782	Abnormal scapula morphology	23676	SMPX	OMIM:301075
HP:0000782	Abnormal scapula morphology	56652	TWNK	OMIM:607459
HP:0000782	Abnormal scapula morphology	7043	TGFB3	OMIM:615582
HP:0000782	Abnormal scapula morphology	10801	SEPTIN9	ORPHA:2901
HP:0000782	Abnormal scapula morphology	7227	TRPS1	OMIM:190350
HP:0000782	Abnormal scapula morphology	23224	SYNE2	OMIM:612999
HP:0000782	Abnormal scapula morphology	23224	SYNE2	ORPHA:98853
HP:0000782	Abnormal scapula morphology	23534	TNPO3	OMIM:608423
HP:0000782	Abnormal scapula morphology	59341	TRPV4	OMIM:181405
HP:0000782	Abnormal scapula morphology	79188	TMEM43	ORPHA:98853
HP:0000782	Abnormal scapula morphology	23345	SYNE1	ORPHA:98853
HP:0000782	Abnormal scapula morphology	203859	ANO5	ORPHA:206549
HP:0000782	Abnormal scapula morphology	2261	FGFR3	OMIM:187601
HP:0000782	Abnormal scapula morphology	2261	FGFR3	OMIM:187600
HP:0000782	Abnormal scapula morphology	4998	ORC1	OMIM:224690
HP:0000782	Abnormal scapula morphology	26175	LYSET	OMIM:619345
HP:0000782	Abnormal scapula morphology	4010	LMX1B	OMIM:161200
HP:0000782	Abnormal scapula morphology	9896	FIG4	ORPHA:3472
HP:0000782	Abnormal scapula morphology	55697	VAC14	ORPHA:3472
HP:0000782	Abnormal scapula morphology	100	ADA	OMIM:102700
HP:0000786	Primary amenorrhea	2260	FGFR1	ORPHA:432
HP:0000786	Primary amenorrhea	2260	FGFR1	OMIM:147950
HP:0000786	Primary amenorrhea	2260	FGFR1	ORPHA:478
HP:0000786	Primary amenorrhea	81848	SPRY4	ORPHA:432
HP:0000786	Primary amenorrhea	81848	SPRY4	OMIM:146110
HP:0000786	Primary amenorrhea	81848	SPRY4	ORPHA:478
HP:0000786	Primary amenorrhea	128674	PROKR2	ORPHA:432
HP:0000786	Primary amenorrhea	128674	PROKR2	OMIM:244200
HP:0000786	Primary amenorrhea	128674	PROKR2	ORPHA:95496
HP:0000786	Primary amenorrhea	128674	PROKR2	ORPHA:478
HP:0000786	Primary amenorrhea	2253	FGF8	ORPHA:432
HP:0000786	Primary amenorrhea	2253	FGF8	OMIM:612702
HP:0000786	Primary amenorrhea	2253	FGF8	ORPHA:478
HP:0000786	Primary amenorrhea	60675	PROK2	ORPHA:432
HP:0000786	Primary amenorrhea	60675	PROK2	OMIM:610628
HP:0000786	Primary amenorrhea	60675	PROK2	ORPHA:478
HP:0000786	Primary amenorrhea	55636	CHD7	ORPHA:432
HP:0000786	Primary amenorrhea	55636	CHD7	ORPHA:478
HP:0000786	Primary amenorrhea	6870	TACR3	ORPHA:432
HP:0000786	Primary amenorrhea	6870	TACR3	OMIM:614840
HP:0000786	Primary amenorrhea	6870	TACR3	ORPHA:478
HP:0000786	Primary amenorrhea	1848	DUSP6	ORPHA:432
HP:0000786	Primary amenorrhea	1848	DUSP6	OMIM:146110
HP:0000786	Primary amenorrhea	1848	DUSP6	ORPHA:478
HP:0000786	Primary amenorrhea	26012	NSMF	ORPHA:432
HP:0000786	Primary amenorrhea	55717	WDR11	ORPHA:432
HP:0000786	Primary amenorrhea	55717	WDR11	OMIM:146110
HP:0000786	Primary amenorrhea	55717	WDR11	OMIM:614858
HP:0000786	Primary amenorrhea	55717	WDR11	ORPHA:95496
HP:0000786	Primary amenorrhea	55717	WDR11	ORPHA:478
HP:0000786	Primary amenorrhea	9394	HS6ST1	ORPHA:432
HP:0000786	Primary amenorrhea	9394	HS6ST1	OMIM:614880
HP:0000786	Primary amenorrhea	9394	HS6ST1	ORPHA:478
HP:0000786	Primary amenorrhea	2796	GNRH1	ORPHA:432
HP:0000786	Primary amenorrhea	2796	GNRH1	OMIM:614841
HP:0000786	Primary amenorrhea	2796	GNRH1	OMIM:146110
HP:0000786	Primary amenorrhea	2798	GNRHR	ORPHA:432
HP:0000786	Primary amenorrhea	2798	GNRHR	OMIM:146110
HP:0000786	Primary amenorrhea	84634	KISS1R	ORPHA:432
HP:0000786	Primary amenorrhea	84634	KISS1R	OMIM:614837
HP:0000786	Primary amenorrhea	6866	TAC3	ORPHA:432
HP:0000786	Primary amenorrhea	6866	TAC3	OMIM:614839
HP:0000786	Primary amenorrhea	8822	FGF17	ORPHA:432
HP:0000786	Primary amenorrhea	8822	FGF17	OMIM:146110
HP:0000786	Primary amenorrhea	8822	FGF17	ORPHA:478
HP:0000786	Primary amenorrhea	3814	KISS1	ORPHA:432
HP:0000786	Primary amenorrhea	9210	BMP15	OMIM:300510
HP:0000786	Primary amenorrhea	9210	BMP15	ORPHA:243
HP:0000786	Primary amenorrhea	2100	ESR2	OMIM:618187
HP:0000786	Primary amenorrhea	84515	MCM8	OMIM:612885
HP:0000786	Primary amenorrhea	125150	ZSWIM7	OMIM:619834
HP:0000786	Primary amenorrhea	125150	ZSWIM7	ORPHA:243
HP:0000786	Primary amenorrhea	857	CAV1	OMIM:612526
HP:0000786	Primary amenorrhea	7681	MKRN3	OMIM:176270
HP:0000786	Primary amenorrhea	3653	IPW	OMIM:176270
HP:0000786	Primary amenorrhea	54551	MAGEL2	OMIM:176270
HP:0000786	Primary amenorrhea	54551	MAGEL2	ORPHA:177904
HP:0000786	Primary amenorrhea	54551	MAGEL2	ORPHA:177901
HP:0000786	Primary amenorrhea	54551	MAGEL2	ORPHA:398069
HP:0000786	Primary amenorrhea	54551	MAGEL2	ORPHA:98754
HP:0000786	Primary amenorrhea	791114	PWRN1	OMIM:176270
HP:0000786	Primary amenorrhea	100033413	SNORD116-1	OMIM:176270
HP:0000786	Primary amenorrhea	8924	HERC2	OMIM:176270
HP:0000786	Primary amenorrhea	145624	PWAR1	OMIM:176270
HP:0000786	Primary amenorrhea	23742	NPAP1	OMIM:176270
HP:0000786	Primary amenorrhea	338433	SNORD115-1	OMIM:176270
HP:0000786	Primary amenorrhea	5447	POR	ORPHA:95699
HP:0000786	Primary amenorrhea	5447	POR	OMIM:201750
HP:0000786	Primary amenorrhea	2099	ESR1	ORPHA:785
HP:0000786	Primary amenorrhea	2099	ESR1	OMIM:615363
HP:0000786	Primary amenorrhea	9150	CTDP1	OMIM:604168
HP:0000786	Primary amenorrhea	2488	FSHB	ORPHA:52901
HP:0000786	Primary amenorrhea	2488	FSHB	OMIM:229070
HP:0000786	Primary amenorrhea	57122	NUP107	OMIM:618078
HP:0000786	Primary amenorrhea	57122	NUP107	ORPHA:243
HP:0000786	Primary amenorrhea	1528	CYB5A	ORPHA:90796
HP:0000786	Primary amenorrhea	1586	CYP17A1	ORPHA:90796
HP:0000786	Primary amenorrhea	1586	CYP17A1	ORPHA:90793
HP:0000786	Primary amenorrhea	1586	CYP17A1	OMIM:202110
HP:0000786	Primary amenorrhea	367	AR	ORPHA:90797
HP:0000786	Primary amenorrhea	367	AR	OMIM:300068
HP:0000786	Primary amenorrhea	367	AR	ORPHA:99429
HP:0000786	Primary amenorrhea	6492	SIM1	ORPHA:398079
HP:0000786	Primary amenorrhea	1363	CPE	OMIM:619326
HP:0000786	Primary amenorrhea	56945	MRPS22	OMIM:618117
HP:0000786	Primary amenorrhea	56945	MRPS22	ORPHA:243
HP:0000786	Primary amenorrhea	3952	LEP	ORPHA:66628
HP:0000786	Primary amenorrhea	3952	LEP	OMIM:614962
HP:0000786	Primary amenorrhea	54476	RNF216	OMIM:212840
HP:0000786	Primary amenorrhea	2592	GALT	ORPHA:79239
HP:0000786	Primary amenorrhea	6638	SNRPN	ORPHA:177904
HP:0000786	Primary amenorrhea	6638	SNRPN	ORPHA:177901
HP:0000786	Primary amenorrhea	6638	SNRPN	ORPHA:98754
HP:0000786	Primary amenorrhea	4692	NDN	ORPHA:177904
HP:0000786	Primary amenorrhea	4692	NDN	ORPHA:177901
HP:0000786	Primary amenorrhea	4692	NDN	ORPHA:98754
HP:0000786	Primary amenorrhea	4948	OCA2	ORPHA:177904
HP:0000786	Primary amenorrhea	4948	OCA2	ORPHA:177901
HP:0000786	Primary amenorrhea	4948	OCA2	ORPHA:98754
HP:0000786	Primary amenorrhea	254394	MCM9	OMIM:616185
HP:0000786	Primary amenorrhea	55154	MSTO1	OMIM:617675
HP:0000786	Primary amenorrhea	55154	MSTO1	ORPHA:502423
HP:0000786	Primary amenorrhea	9692	PRORP	OMIM:619737
HP:0000786	Primary amenorrhea	29893	PSMC3IP	OMIM:614324
HP:0000786	Primary amenorrhea	29893	PSMC3IP	ORPHA:243
HP:0000786	Primary amenorrhea	5468	PPARG	ORPHA:79083
HP:0000786	Primary amenorrhea	5468	PPARG	OMIM:604367
HP:0000786	Primary amenorrhea	658	BMPR1B	OMIM:609441
HP:0000786	Primary amenorrhea	5428	POLG	OMIM:157640
HP:0000786	Primary amenorrhea	7490	WT1	OMIM:136680
HP:0000786	Primary amenorrhea	7490	WT1	ORPHA:251510
HP:0000786	Primary amenorrhea	7490	WT1	ORPHA:347
HP:0000786	Primary amenorrhea	54361	WNT4	OMIM:158330
HP:0000786	Primary amenorrhea	54361	WNT4	ORPHA:247768
HP:0000786	Primary amenorrhea	23347	SMCHD1	OMIM:603457
HP:0000786	Primary amenorrhea	2661	GDF9	OMIM:618014
HP:0000786	Primary amenorrhea	26284	ERAL1	OMIM:617565
HP:0000786	Primary amenorrhea	51199	NIN	OMIM:614851
HP:0000786	Primary amenorrhea	51199	NIN	ORPHA:319675
HP:0000786	Primary amenorrhea	9723	SEMA3E	OMIM:146110
HP:0000786	Primary amenorrhea	558	AXL	OMIM:146110
HP:0000786	Primary amenorrhea	10011	SRA1	OMIM:146110
HP:0000786	Primary amenorrhea	285025	CCDC141	OMIM:146110
HP:0000786	Primary amenorrhea	285025	CCDC141	ORPHA:478
HP:0000786	Primary amenorrhea	389549	FEZF1	OMIM:146110
HP:0000786	Primary amenorrhea	389549	FEZF1	OMIM:616030
HP:0000786	Primary amenorrhea	389549	FEZF1	ORPHA:478
HP:0000786	Primary amenorrhea	23395	LARS2	OMIM:615300
HP:0000786	Primary amenorrhea	2492	FSHR	OMIM:233300
HP:0000786	Primary amenorrhea	2492	FSHR	ORPHA:243
HP:0000786	Primary amenorrhea	344018	FIGLA	OMIM:612310
HP:0000786	Primary amenorrhea	3953	LEPR	ORPHA:179494
HP:0000786	Primary amenorrhea	6662	SOX9	ORPHA:251510
HP:0000786	Primary amenorrhea	6845	VAMP7	ORPHA:251510
HP:0000786	Primary amenorrhea	51741	WWOX	ORPHA:251510
HP:0000786	Primary amenorrhea	4214	MAP3K1	ORPHA:251510
HP:0000786	Primary amenorrhea	2516	NR5A1	ORPHA:251510
HP:0000786	Primary amenorrhea	2516	NR5A1	OMIM:612964
HP:0000786	Primary amenorrhea	2516	NR5A1	ORPHA:243
HP:0000786	Primary amenorrhea	58524	DMRT3	ORPHA:251510
HP:0000786	Primary amenorrhea	57647	DHX37	ORPHA:251510
HP:0000786	Primary amenorrhea	57647	DHX37	OMIM:273250
HP:0000786	Primary amenorrhea	6736	SRY	ORPHA:251510
HP:0000786	Primary amenorrhea	6736	SRY	OMIM:400044
HP:0000786	Primary amenorrhea	23414	ZFPM2	ORPHA:251510
HP:0000786	Primary amenorrhea	190	NR0B1	ORPHA:251510
HP:0000786	Primary amenorrhea	2626	GATA4	ORPHA:251510
HP:0000786	Primary amenorrhea	50846	DHH	OMIM:233420
HP:0000786	Primary amenorrhea	50846	DHH	OMIM:607080
HP:0000786	Primary amenorrhea	50846	DHH	ORPHA:168563
HP:0000786	Primary amenorrhea	1588	CYP19A1	ORPHA:91
HP:0000786	Primary amenorrhea	1588	CYP19A1	OMIM:613546
HP:0000786	Primary amenorrhea	23476	BRD4	ORPHA:199
HP:0000786	Primary amenorrhea	9126	SMC3	ORPHA:199
HP:0000786	Primary amenorrhea	8243	SMC1A	ORPHA:199
HP:0000786	Primary amenorrhea	25836	NIPBL	ORPHA:199
HP:0000786	Primary amenorrhea	55869	HDAC8	ORPHA:199
HP:0000786	Primary amenorrhea	5885	RAD21	ORPHA:199
HP:0000786	Primary amenorrhea	402381	SOHLH1	OMIM:617690
HP:0000786	Primary amenorrhea	5189	PEX1	ORPHA:3220
HP:0000786	Primary amenorrhea	5190	PEX6	ORPHA:3220
HP:0000786	Primary amenorrhea	89884	LHX4	ORPHA:95496
HP:0000786	Primary amenorrhea	6091	ROBO1	ORPHA:95496
HP:0000786	Primary amenorrhea	8820	HESX1	ORPHA:95496
HP:0000786	Primary amenorrhea	8820	HESX1	ORPHA:478
HP:0000786	Primary amenorrhea	50937	CDON	ORPHA:95496
HP:0000786	Primary amenorrhea	23432	GPR161	ORPHA:95496
HP:0000786	Primary amenorrhea	493856	CISD2	OMIM:604928
HP:0000786	Primary amenorrhea	79983	POF1B	OMIM:300604
HP:0000786	Primary amenorrhea	56652	TWNK	OMIM:616138
HP:0000786	Primary amenorrhea	2625	GATA3	OMIM:146255
HP:0000786	Primary amenorrhea	3295	HSD17B4	OMIM:233400
HP:0000786	Primary amenorrhea	10734	STAG3	OMIM:615723
HP:0000786	Primary amenorrhea	5122	PCSK1	OMIM:600955
HP:0000786	Primary amenorrhea	79625	NDNF	OMIM:618841
HP:0000786	Primary amenorrhea	79625	NDNF	ORPHA:478
HP:0000786	Primary amenorrhea	8565	YARS1	OMIM:619418
HP:0000786	Primary amenorrhea	8192	CLPP	OMIM:614129
HP:0000786	Primary amenorrhea	93426	SYCE1	OMIM:616947
HP:0000786	Primary amenorrhea	1967	EIF2B1	OMIM:603896
HP:0000786	Primary amenorrhea	171568	POLR3H	ORPHA:243
HP:0000786	Primary amenorrhea	23514	SPIDR	ORPHA:243
HP:0000786	Primary amenorrhea	23514	SPIDR	OMIM:619665
HP:0000786	Primary amenorrhea	646	BNC1	ORPHA:243
HP:0000786	Primary amenorrhea	8626	TP63	ORPHA:69085
HP:0000786	Primary amenorrhea	8516	ITGA8	OMIM:191830
HP:0000786	Primary amenorrhea	93587	TRMT10A	OMIM:616033
HP:0000786	Primary amenorrhea	10371	SEMA3A	OMIM:614897
HP:0000786	Primary amenorrhea	10371	SEMA3A	ORPHA:478
HP:0000786	Primary amenorrhea	135935	NOBOX	OMIM:611548
HP:0000786	Primary amenorrhea	23767	FLRT3	ORPHA:478
HP:0000786	Primary amenorrhea	1630	DCC	ORPHA:478
HP:0000786	Primary amenorrhea	3730	ANOS1	ORPHA:478
HP:0000786	Primary amenorrhea	54756	IL17RD	ORPHA:478
HP:0000786	Primary amenorrhea	6663	SOX10	ORPHA:478
HP:0003241	External genital hypoplasia	341640	FREM2	ORPHA:2052
HP:0003241	External genital hypoplasia	23426	GRIP1	ORPHA:2052
HP:0003241	External genital hypoplasia	23426	GRIP1	OMIM:617667
HP:0003241	External genital hypoplasia	10056	FARSB	OMIM:613658
HP:0003241	External genital hypoplasia	84172	POLR1B	ORPHA:861
HP:0003241	External genital hypoplasia	9533	POLR1C	ORPHA:861
HP:0003241	External genital hypoplasia	51082	POLR1D	ORPHA:861
HP:0003241	External genital hypoplasia	6949	TCOF1	ORPHA:861
HP:0003241	External genital hypoplasia	51124	IER3IP1	OMIM:614231
HP:0003241	External genital hypoplasia	3664	IRF6	OMIM:119500
HP:0003241	External genital hypoplasia	3664	IRF6	ORPHA:1300
HP:0003241	External genital hypoplasia	22858	CILK1	OMIM:612651
HP:0003241	External genital hypoplasia	10982	MAPRE2	OMIM:616734
HP:0003241	External genital hypoplasia	10982	MAPRE2	ORPHA:2505
HP:0003241	External genital hypoplasia	5818	NECTIN1	ORPHA:3253
HP:0003241	External genital hypoplasia	6638	SNRPN	ORPHA:98754
HP:0003241	External genital hypoplasia	6638	SNRPN	ORPHA:177904
HP:0003241	External genital hypoplasia	6638	SNRPN	ORPHA:177901
HP:0003241	External genital hypoplasia	4692	NDN	ORPHA:98754
HP:0003241	External genital hypoplasia	4692	NDN	ORPHA:177904
HP:0003241	External genital hypoplasia	4692	NDN	ORPHA:177901
HP:0003241	External genital hypoplasia	4948	OCA2	ORPHA:98754
HP:0003241	External genital hypoplasia	4948	OCA2	ORPHA:177904
HP:0003241	External genital hypoplasia	4948	OCA2	ORPHA:177901
HP:0003241	External genital hypoplasia	7259	TSPYL1	ORPHA:168593
HP:0003241	External genital hypoplasia	7476	WNT7A	OMIM:276820
HP:0003241	External genital hypoplasia	4621	MYH3	ORPHA:2990
HP:0003241	External genital hypoplasia	1146	CHRNG	ORPHA:2990
HP:0003241	External genital hypoplasia	652	BMP4	OMIM:607932
HP:0003241	External genital hypoplasia	8295	TRRAP	OMIM:618454
HP:0003241	External genital hypoplasia	203068	TUBB	ORPHA:2505
HP:0003241	External genital hypoplasia	4000	LMNA	ORPHA:740
HP:0003241	External genital hypoplasia	10269	ZMPSTE24	ORPHA:740
HP:0003241	External genital hypoplasia	25836	NIPBL	OMIM:122470
HP:0003241	External genital hypoplasia	8087	FXR1	OMIM:618823
HP:0003241	External genital hypoplasia	51259	TMEM216	OMIM:608091
HP:0003241	External genital hypoplasia	10274	STAG1	ORPHA:502434
HP:0003241	External genital hypoplasia	2218	FKTN	OMIM:236670
HP:0003241	External genital hypoplasia	8450	CUL4B	OMIM:300354
HP:0003241	External genital hypoplasia	8294	H4C9	OMIM:619951
HP:0003241	External genital hypoplasia	10046	MAMLD1	ORPHA:456328
HP:0003241	External genital hypoplasia	10046	MAMLD1	ORPHA:95706
HP:0003241	External genital hypoplasia	4534	MTM1	ORPHA:456328
HP:0003241	External genital hypoplasia	4750	NEK1	OMIM:263520
HP:0003241	External genital hypoplasia	128674	PROKR2	OMIM:244200
HP:0003241	External genital hypoplasia	128674	PROKR2	ORPHA:478
HP:0003241	External genital hypoplasia	128674	PROKR2	ORPHA:432
HP:0003241	External genital hypoplasia	201595	STT3B	OMIM:615597
HP:0003241	External genital hypoplasia	201595	STT3B	ORPHA:370924
HP:0003241	External genital hypoplasia	6938	TCF12	OMIM:619718
HP:0003241	External genital hypoplasia	91801	ALKBH8	OMIM:618504
HP:0003241	External genital hypoplasia	3209	HOXA13	OMIM:140000
HP:0003241	External genital hypoplasia	80144	FRAS1	OMIM:219000
HP:0003241	External genital hypoplasia	4983	OPHN1	OMIM:300486
HP:0003241	External genital hypoplasia	197131	UBR1	OMIM:243800
HP:0003241	External genital hypoplasia	4281	MID1	OMIM:300000
HP:0003241	External genital hypoplasia	6716	SRD5A2	OMIM:264600
HP:0003241	External genital hypoplasia	374654	KIF7	OMIM:200990
HP:0003241	External genital hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0003241	External genital hypoplasia	1855	DVL1	OMIM:616331
HP:0003241	External genital hypoplasia	1855	DVL1	OMIM:180700
HP:0003241	External genital hypoplasia	58	ACTA1	ORPHA:171430
HP:0003241	External genital hypoplasia	4703	NEB	ORPHA:171430
HP:0003241	External genital hypoplasia	131377	KLHL40	ORPHA:171430
HP:0003241	External genital hypoplasia	10324	KLHL41	ORPHA:171430
HP:0003241	External genital hypoplasia	56203	LMOD3	ORPHA:171430
HP:0003241	External genital hypoplasia	1723	DHODH	OMIM:263750
HP:0003241	External genital hypoplasia	1528	CYB5A	ORPHA:90796
HP:0003241	External genital hypoplasia	1528	CYB5A	OMIM:250790
HP:0003241	External genital hypoplasia	1586	CYP17A1	ORPHA:90796
HP:0003241	External genital hypoplasia	1586	CYP17A1	ORPHA:90793
HP:0003241	External genital hypoplasia	1841	DTYMK	OMIM:619847
HP:0003241	External genital hypoplasia	4010	LMX1B	ORPHA:495818
HP:0003241	External genital hypoplasia	6812	STXBP1	ORPHA:495818
HP:0003241	External genital hypoplasia	79947	DHDDS	OMIM:613861
HP:0003241	External genital hypoplasia	56623	INPP5E	ORPHA:75858
HP:0003241	External genital hypoplasia	56623	INPP5E	OMIM:610156
HP:0003241	External genital hypoplasia	25782	RAB3GAP2	OMIM:212720
HP:0003241	External genital hypoplasia	25782	RAB3GAP2	OMIM:614225
HP:0003241	External genital hypoplasia	84634	KISS1R	OMIM:614837
HP:0003241	External genital hypoplasia	84634	KISS1R	ORPHA:432
HP:0003241	External genital hypoplasia	26012	NSMF	OMIM:614838
HP:0003241	External genital hypoplasia	26012	NSMF	ORPHA:432
HP:0003241	External genital hypoplasia	1161	ERCC8	OMIM:216400
HP:0003241	External genital hypoplasia	3703	STT3A	ORPHA:370921
HP:0003241	External genital hypoplasia	170302	ARX	OMIM:300215
HP:0003241	External genital hypoplasia	170302	ARX	ORPHA:1934
HP:0003241	External genital hypoplasia	170302	ARX	OMIM:308350
HP:0003241	External genital hypoplasia	10584	COLEC10	OMIM:248340
HP:0003241	External genital hypoplasia	6870	TACR3	OMIM:614840
HP:0003241	External genital hypoplasia	6870	TACR3	ORPHA:478
HP:0003241	External genital hypoplasia	6870	TACR3	ORPHA:432
HP:0003241	External genital hypoplasia	1889	ECE1	OMIM:613870
HP:0003241	External genital hypoplasia	3952	LEP	OMIM:614962
HP:0003241	External genital hypoplasia	2796	GNRH1	OMIM:614841
HP:0003241	External genital hypoplasia	2796	GNRH1	OMIM:146110
HP:0003241	External genital hypoplasia	2796	GNRH1	ORPHA:432
HP:0003241	External genital hypoplasia	2688	GH1	OMIM:612781
HP:0003241	External genital hypoplasia	815	CAMK2A	OMIM:617798
HP:0003241	External genital hypoplasia	5015	OTX2	OMIM:610125
HP:0003241	External genital hypoplasia	84100	ARL6	OMIM:209900
HP:0003241	External genital hypoplasia	79140	CCDC28B	OMIM:209900
HP:0003241	External genital hypoplasia	582	BBS1	OMIM:209900
HP:0003241	External genital hypoplasia	114034	TOE1	OMIM:614969
HP:0003241	External genital hypoplasia	114034	TOE1	ORPHA:284339
HP:0003241	External genital hypoplasia	79087	ALG12	OMIM:607143
HP:0003241	External genital hypoplasia	79087	ALG12	ORPHA:79324
HP:0003241	External genital hypoplasia	1717	DHCR7	OMIM:270400
HP:0003241	External genital hypoplasia	23116	TOGARAM1	OMIM:619185
HP:0003241	External genital hypoplasia	9839	ZEB2	ORPHA:261552
HP:0003241	External genital hypoplasia	9839	ZEB2	ORPHA:261537
HP:0003241	External genital hypoplasia	84823	LMNB2	OMIM:619180
HP:0003241	External genital hypoplasia	23347	SMCHD1	OMIM:603457
HP:0003241	External genital hypoplasia	6926	TBX3	OMIM:181450
HP:0003241	External genital hypoplasia	9896	FIG4	ORPHA:3472
HP:0003241	External genital hypoplasia	9896	FIG4	OMIM:216340
HP:0003241	External genital hypoplasia	55697	VAC14	ORPHA:3472
HP:0003241	External genital hypoplasia	283987	HID1	OMIM:619983
HP:0003241	External genital hypoplasia	1656	DDX6	OMIM:618653
HP:0003241	External genital hypoplasia	132158	GLYCTK	OMIM:220120
HP:0003241	External genital hypoplasia	80776	B9D2	OMIM:614175
HP:0003241	External genital hypoplasia	55148	UBR7	OMIM:619189
HP:0003241	External genital hypoplasia	558	AXL	OMIM:146110
HP:0003241	External genital hypoplasia	2798	GNRHR	OMIM:146110
HP:0003241	External genital hypoplasia	2798	GNRHR	ORPHA:432
HP:0003241	External genital hypoplasia	10011	SRA1	OMIM:146110
HP:0003241	External genital hypoplasia	55717	WDR11	OMIM:146110
HP:0003241	External genital hypoplasia	55717	WDR11	ORPHA:478
HP:0003241	External genital hypoplasia	55717	WDR11	ORPHA:432
HP:0003241	External genital hypoplasia	8822	FGF17	OMIM:146110
HP:0003241	External genital hypoplasia	8822	FGF17	ORPHA:478
HP:0003241	External genital hypoplasia	8822	FGF17	ORPHA:432
HP:0003241	External genital hypoplasia	1848	DUSP6	OMIM:146110
HP:0003241	External genital hypoplasia	1848	DUSP6	ORPHA:478
HP:0003241	External genital hypoplasia	1848	DUSP6	ORPHA:432
HP:0003241	External genital hypoplasia	81848	SPRY4	OMIM:146110
HP:0003241	External genital hypoplasia	81848	SPRY4	ORPHA:478
HP:0003241	External genital hypoplasia	81848	SPRY4	ORPHA:432
HP:0003241	External genital hypoplasia	285025	CCDC141	OMIM:146110
HP:0003241	External genital hypoplasia	285025	CCDC141	ORPHA:478
HP:0003241	External genital hypoplasia	389549	FEZF1	OMIM:146110
HP:0003241	External genital hypoplasia	389549	FEZF1	OMIM:616030
HP:0003241	External genital hypoplasia	389549	FEZF1	ORPHA:478
HP:0003241	External genital hypoplasia	79813	EHMT1	OMIM:610253
HP:0003241	External genital hypoplasia	1009	CDH11	ORPHA:1299
HP:0003241	External genital hypoplasia	1954	MEGF8	OMIM:614976
HP:0003241	External genital hypoplasia	2783	GNB2	OMIM:619503
HP:0003241	External genital hypoplasia	6662	SOX9	ORPHA:251510
HP:0003241	External genital hypoplasia	6845	VAMP7	ORPHA:251510
HP:0003241	External genital hypoplasia	51741	WWOX	ORPHA:251510
HP:0003241	External genital hypoplasia	4214	MAP3K1	ORPHA:251510
HP:0003241	External genital hypoplasia	2516	NR5A1	ORPHA:251510
HP:0003241	External genital hypoplasia	2516	NR5A1	OMIM:617480
HP:0003241	External genital hypoplasia	7490	WT1	ORPHA:251510
HP:0003241	External genital hypoplasia	58524	DMRT3	ORPHA:251510
HP:0003241	External genital hypoplasia	57647	DHX37	ORPHA:251510
HP:0003241	External genital hypoplasia	6736	SRY	ORPHA:251510
HP:0003241	External genital hypoplasia	6736	SRY	ORPHA:1772
HP:0003241	External genital hypoplasia	23414	ZFPM2	ORPHA:251510
HP:0003241	External genital hypoplasia	190	NR0B1	ORPHA:251510
HP:0003241	External genital hypoplasia	2626	GATA4	ORPHA:251510
HP:0003241	External genital hypoplasia	1028	CDKN1C	OMIM:614732
HP:0003241	External genital hypoplasia	26005	C2CD3	OMIM:615948
HP:0003241	External genital hypoplasia	26040	SETBP1	OMIM:269150
HP:0003241	External genital hypoplasia	26040	SETBP1	ORPHA:798
HP:0003241	External genital hypoplasia	63901	FAM111A	OMIM:602361
HP:0003241	External genital hypoplasia	7840	ALMS1	ORPHA:64
HP:0003241	External genital hypoplasia	79659	DYNC2H1	OMIM:613091
HP:0003241	External genital hypoplasia	253738	EBF3	OMIM:617330
HP:0003241	External genital hypoplasia	6905	TBCE	OMIM:241410
HP:0003241	External genital hypoplasia	1349	COX7B	OMIM:309801
HP:0003241	External genital hypoplasia	3052	HCCS	OMIM:309801
HP:0003241	External genital hypoplasia	54539	NDUFB11	OMIM:309801
HP:0003241	External genital hypoplasia	8879	SGPL1	OMIM:617575
HP:0003241	External genital hypoplasia	80067	DCAF17	ORPHA:3464
HP:0003241	External genital hypoplasia	80067	DCAF17	OMIM:241080
HP:0003241	External genital hypoplasia	1859	DYRK1A	ORPHA:464311
HP:0003241	External genital hypoplasia	1859	DYRK1A	ORPHA:268261
HP:0003241	External genital hypoplasia	2736	GLI2	OMIM:610829
HP:0003241	External genital hypoplasia	2736	GLI2	OMIM:615849
HP:0003241	External genital hypoplasia	79718	TBL1XR1	OMIM:602342
HP:0003241	External genital hypoplasia	5700	PSMC1	OMIM:620071
HP:0003241	External genital hypoplasia	79228	THOC6	ORPHA:363444
HP:0003241	External genital hypoplasia	11041	B4GAT1	OMIM:615287
HP:0003241	External genital hypoplasia	3972	LHB	OMIM:228300
HP:0003241	External genital hypoplasia	59336	PRDM13	OMIM:619761
HP:0003241	External genital hypoplasia	5591	PRKDC	OMIM:615966
HP:0003241	External genital hypoplasia	6925	TCF4	OMIM:610954
HP:0003241	External genital hypoplasia	6925	TCF4	ORPHA:2896
HP:0003241	External genital hypoplasia	51085	MLXIPL	OMIM:194050
HP:0003241	External genital hypoplasia	2006	ELN	OMIM:194050
HP:0003241	External genital hypoplasia	3911	LAMA5	OMIM:620076
HP:0003241	External genital hypoplasia	4920	ROR2	OMIM:268310
HP:0003241	External genital hypoplasia	4920	ROR2	OMIM:113000
HP:0003241	External genital hypoplasia	63895	PIEZO2	OMIM:248700
HP:0003241	External genital hypoplasia	8242	KDM5C	OMIM:300534
HP:0003241	External genital hypoplasia	55120	FANCL	OMIM:614083
HP:0003241	External genital hypoplasia	9968	MED12	OMIM:300895
HP:0003241	External genital hypoplasia	9394	HS6ST1	OMIM:614880
HP:0003241	External genital hypoplasia	9394	HS6ST1	ORPHA:478
HP:0003241	External genital hypoplasia	9394	HS6ST1	ORPHA:432
HP:0003241	External genital hypoplasia	10661	KLF1	OMIM:613673
HP:0003241	External genital hypoplasia	546	ATRX	OMIM:309580
HP:0003241	External genital hypoplasia	546	ATRX	OMIM:301040
HP:0003241	External genital hypoplasia	701	BUB1B	OMIM:257300
HP:0003241	External genital hypoplasia	3730	ANOS1	OMIM:308700
HP:0003241	External genital hypoplasia	3730	ANOS1	ORPHA:478
HP:0003241	External genital hypoplasia	5781	PTPN11	OMIM:151100
HP:0003241	External genital hypoplasia	54101	RIPK4	OMIM:263650
HP:0003241	External genital hypoplasia	129880	BBS5	OMIM:615983
HP:0003241	External genital hypoplasia	27152	INTU	OMIM:617925
HP:0003241	External genital hypoplasia	27152	INTU	OMIM:617926
HP:0003241	External genital hypoplasia	5426	POLE	OMIM:618336
HP:0003241	External genital hypoplasia	7319	UBE2A	ORPHA:163956
HP:0003241	External genital hypoplasia	7319	UBE2A	OMIM:300860
HP:0003241	External genital hypoplasia	10371	SEMA3A	OMIM:614897
HP:0003241	External genital hypoplasia	10371	SEMA3A	ORPHA:478
HP:0003241	External genital hypoplasia	10535	RNASEH2A	ORPHA:51
HP:0003241	External genital hypoplasia	84153	RNASEH2C	ORPHA:51
HP:0003241	External genital hypoplasia	25939	SAMHD1	ORPHA:51
HP:0003241	External genital hypoplasia	79621	RNASEH2B	ORPHA:51
HP:0003241	External genital hypoplasia	103	ADAR	ORPHA:51
HP:0003241	External genital hypoplasia	11277	TREX1	ORPHA:51
HP:0003241	External genital hypoplasia	100147744	RNU7-1	ORPHA:51
HP:0003241	External genital hypoplasia	100147744	RNU7-1	OMIM:619487
HP:0003241	External genital hypoplasia	134353	LSM11	ORPHA:51
HP:0003241	External genital hypoplasia	64135	IFIH1	ORPHA:51
HP:0003241	External genital hypoplasia	6792	CDKL5	ORPHA:1934
HP:0003241	External genital hypoplasia	3736	KCNA1	ORPHA:1934
HP:0003241	External genital hypoplasia	9091	PIGQ	ORPHA:1934
HP:0003241	External genital hypoplasia	2775	GNAO1	ORPHA:1934
HP:0003241	External genital hypoplasia	81603	TRIM8	ORPHA:1934
HP:0003241	External genital hypoplasia	2902	GRIN1	ORPHA:1934
HP:0003241	External genital hypoplasia	79751	SLC25A22	ORPHA:1934
HP:0003241	External genital hypoplasia	150094	SIK1	ORPHA:1934
HP:0003241	External genital hypoplasia	8573	CASK	ORPHA:1934
HP:0003241	External genital hypoplasia	23312	DMXL2	ORPHA:1934
HP:0003241	External genital hypoplasia	2917	GRM7	ORPHA:1934
HP:0003241	External genital hypoplasia	11284	PNKP	ORPHA:1934
HP:0003241	External genital hypoplasia	6326	SCN2A	ORPHA:1934
HP:0003241	External genital hypoplasia	51227	PIGP	ORPHA:1934
HP:0003241	External genital hypoplasia	6324	SCN1B	ORPHA:1934
HP:0003241	External genital hypoplasia	4761	NEUROD2	ORPHA:1934
HP:0003241	External genital hypoplasia	2260	FGFR1	ORPHA:478
HP:0003241	External genital hypoplasia	2260	FGFR1	ORPHA:432
HP:0003241	External genital hypoplasia	2260	FGFR1	OMIM:147950
HP:0003241	External genital hypoplasia	2260	FGFR1	OMIM:615465
HP:0003241	External genital hypoplasia	23767	FLRT3	ORPHA:478
HP:0003241	External genital hypoplasia	79625	NDNF	ORPHA:478
HP:0003241	External genital hypoplasia	79625	NDNF	OMIM:618841
HP:0003241	External genital hypoplasia	2253	FGF8	ORPHA:478
HP:0003241	External genital hypoplasia	2253	FGF8	ORPHA:432
HP:0003241	External genital hypoplasia	2253	FGF8	OMIM:612702
HP:0003241	External genital hypoplasia	1630	DCC	ORPHA:478
HP:0003241	External genital hypoplasia	54756	IL17RD	ORPHA:478
HP:0003241	External genital hypoplasia	6663	SOX10	ORPHA:478
HP:0003241	External genital hypoplasia	60675	PROK2	ORPHA:478
HP:0003241	External genital hypoplasia	60675	PROK2	ORPHA:432
HP:0003241	External genital hypoplasia	60675	PROK2	OMIM:610628
HP:0003241	External genital hypoplasia	8820	HESX1	ORPHA:478
HP:0003241	External genital hypoplasia	10075	HUWE1	OMIM:309590
HP:0003241	External genital hypoplasia	2737	GLI3	ORPHA:672
HP:0003241	External genital hypoplasia	2737	GLI3	OMIM:146510
HP:0003241	External genital hypoplasia	2074	ERCC6	OMIM:133540
HP:0003241	External genital hypoplasia	6866	TAC3	ORPHA:432
HP:0003241	External genital hypoplasia	3814	KISS1	ORPHA:432
HP:0003241	External genital hypoplasia	10466	COG5	ORPHA:263487
HP:0003241	External genital hypoplasia	56896	DPYSL5	OMIM:619435
HP:0003241	External genital hypoplasia	2187	FANCB	OMIM:300514
HP:0003241	External genital hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0003241	External genital hypoplasia	54585	LZTFL1	OMIM:615994
HP:0003241	External genital hypoplasia	23314	SATB2	ORPHA:251028
HP:0003241	External genital hypoplasia	8626	TP63	OMIM:604292
HP:0003241	External genital hypoplasia	8626	TP63	OMIM:106260
HP:0003241	External genital hypoplasia	7681	MKRN3	OMIM:176270
HP:0003241	External genital hypoplasia	3653	IPW	OMIM:176270
HP:0003241	External genital hypoplasia	54551	MAGEL2	OMIM:176270
HP:0003241	External genital hypoplasia	54551	MAGEL2	ORPHA:398069
HP:0003241	External genital hypoplasia	54551	MAGEL2	OMIM:615547
HP:0003241	External genital hypoplasia	791114	PWRN1	OMIM:176270
HP:0003241	External genital hypoplasia	100033413	SNORD116-1	OMIM:176270
HP:0003241	External genital hypoplasia	8924	HERC2	OMIM:176270
HP:0003241	External genital hypoplasia	145624	PWAR1	OMIM:176270
HP:0003241	External genital hypoplasia	23742	NPAP1	OMIM:176270
HP:0003241	External genital hypoplasia	338433	SNORD115-1	OMIM:176270
HP:0003241	External genital hypoplasia	3981	LIG4	OMIM:606593
HP:0003241	External genital hypoplasia	55593	OTUD5	OMIM:301056
HP:0003241	External genital hypoplasia	55315	SLC29A3	OMIM:602782
HP:0003241	External genital hypoplasia	55315	SLC29A3	ORPHA:168569
HP:0003241	External genital hypoplasia	55869	HDAC8	OMIM:300882
HP:0003241	External genital hypoplasia	117581	TWIST2	OMIM:200110
HP:0003241	External genital hypoplasia	113179	ADAT3	ORPHA:363528
HP:0003241	External genital hypoplasia	8882	ZPR1	OMIM:619321
HP:0003241	External genital hypoplasia	84162	BLTP1	OMIM:617822
HP:0003241	External genital hypoplasia	6492	SIM1	ORPHA:398079
HP:0003241	External genital hypoplasia	55784	MCTP2	ORPHA:1596
HP:0003241	External genital hypoplasia	1363	CPE	OMIM:619326
HP:0003241	External genital hypoplasia	2068	ERCC2	OMIM:610756
HP:0003241	External genital hypoplasia	29925	GMPPB	ORPHA:370968
HP:0003241	External genital hypoplasia	79147	FKRP	ORPHA:370968
HP:0003241	External genital hypoplasia	29954	POMT2	ORPHA:370968
HP:0003241	External genital hypoplasia	29954	POMT2	OMIM:613156
HP:0003241	External genital hypoplasia	9215	LARGE1	ORPHA:370968
HP:0003241	External genital hypoplasia	10585	POMT1	ORPHA:370968
HP:0003241	External genital hypoplasia	55777	MBD5	OMIM:156200
HP:0003241	External genital hypoplasia	8925	HERC1	ORPHA:457359
HP:0003241	External genital hypoplasia	51132	RLIM	OMIM:300978
HP:0003241	External genital hypoplasia	4998	ORC1	OMIM:224690
HP:0003241	External genital hypoplasia	7874	USP7	OMIM:616863
HP:0003241	External genital hypoplasia	7874	USP7	ORPHA:500055
HP:0003241	External genital hypoplasia	1108	CHD4	OMIM:617159
HP:0003241	External genital hypoplasia	1000	CDH2	OMIM:618929
HP:0003241	External genital hypoplasia	80311	KLHL15	OMIM:300982
HP:0003241	External genital hypoplasia	10908	PNPLA6	OMIM:245800
HP:0003241	External genital hypoplasia	1641	DCX	OMIM:300067
HP:0003241	External genital hypoplasia	372	ARCN1	OMIM:617164
HP:0003241	External genital hypoplasia	7317	UBA1	OMIM:301830
HP:0003241	External genital hypoplasia	5277	PIGA	OMIM:300868
HP:0003241	External genital hypoplasia	128637	TBC1D20	OMIM:615663
HP:0003241	External genital hypoplasia	55210	ATAD3A	OMIM:618810
HP:0003241	External genital hypoplasia	79633	FAT4	OMIM:615546
HP:0003241	External genital hypoplasia	57187	THOC2	ORPHA:457240
HP:0003241	External genital hypoplasia	4990	SIX6	OMIM:206900
HP:0003241	External genital hypoplasia	6657	SOX2	OMIM:206900
HP:0003241	External genital hypoplasia	23594	ORC6	OMIM:613803
HP:0003241	External genital hypoplasia	990	CDC6	OMIM:613805
HP:0003241	External genital hypoplasia	60	ACTB	OMIM:243310
HP:0003241	External genital hypoplasia	26160	IFT172	OMIM:619471
HP:0003241	External genital hypoplasia	9851	KIAA0753	OMIM:619479
HP:0003241	External genital hypoplasia	2892	GRIA3	ORPHA:364028
HP:0003241	External genital hypoplasia	348180	CTU2	OMIM:618142
HP:0003241	External genital hypoplasia	340419	RSPO2	OMIM:618021
HP:0003241	External genital hypoplasia	7737	RNF113A	OMIM:300953
HP:0003241	External genital hypoplasia	6711	SPTBN1	OMIM:619475
HP:0003241	External genital hypoplasia	22931	RAB18	OMIM:614222
HP:0003241	External genital hypoplasia	95681	CEP41	OMIM:614464
HP:0003241	External genital hypoplasia	29957	SLC25A24	OMIM:612289
HP:0003241	External genital hypoplasia	4659	PPP1R12A	OMIM:618820
HP:0003241	External genital hypoplasia	6608	SMO	OMIM:241800
HP:0003241	External genital hypoplasia	80152	CENPT	OMIM:618702
HP:0003241	External genital hypoplasia	80036	TRPM3	OMIM:620224
HP:0003241	External genital hypoplasia	2132	EXT2	ORPHA:52022
HP:0003241	External genital hypoplasia	60529	ALX4	ORPHA:52022
HP:0003241	External genital hypoplasia	51317	PHF21A	ORPHA:52022
HP:0003241	External genital hypoplasia	8567	MADD	OMIM:619004
HP:0003241	External genital hypoplasia	8567	MADD	OMIM:619005
HP:0003241	External genital hypoplasia	8318	CDC45	OMIM:617063
HP:0003241	External genital hypoplasia	1857	DVL3	OMIM:616894
HP:0003241	External genital hypoplasia	202018	TAPT1	OMIM:616897
HP:0003241	External genital hypoplasia	745	MYRF	OMIM:618280
HP:0003241	External genital hypoplasia	3284	HSD3B2	OMIM:201810
HP:0003241	External genital hypoplasia	2177	FANCD2	OMIM:227646
HP:0003241	External genital hypoplasia	84295	PHF6	OMIM:301900
HP:0003241	External genital hypoplasia	4047	LSS	OMIM:618840
HP:0003241	External genital hypoplasia	23247	KATNIP	OMIM:616784
HP:0003241	External genital hypoplasia	7518	XRCC4	OMIM:616541
HP:0003241	External genital hypoplasia	9786	KIAA0586	OMIM:616546
HP:0003241	External genital hypoplasia	5718	PSMD12	OMIM:617516
HP:0003241	External genital hypoplasia	1968	EIF2S3	ORPHA:85282
HP:0003241	External genital hypoplasia	1968	EIF2S3	OMIM:300148
HP:0003241	External genital hypoplasia	6261	RYR1	ORPHA:98905
HP:0003241	External genital hypoplasia	7474	WNT5A	OMIM:180700
HP:0003241	External genital hypoplasia	9562	MINPP1	ORPHA:284339
HP:0003241	External genital hypoplasia	5087	PBX1	OMIM:617641
HP:0003241	External genital hypoplasia	523	ATP6V1A	OMIM:617403
HP:0003241	External genital hypoplasia	529	ATP6V1E1	OMIM:617402
HP:0003241	External genital hypoplasia	8085	KMT2D	OMIM:147920
HP:0003241	External genital hypoplasia	7403	KDM6A	OMIM:147920
HP:0003241	External genital hypoplasia	23476	BRD4	ORPHA:199
HP:0003241	External genital hypoplasia	9126	SMC3	ORPHA:199
HP:0003241	External genital hypoplasia	8243	SMC1A	ORPHA:199
HP:0003241	External genital hypoplasia	5885	RAD21	ORPHA:199
HP:0003241	External genital hypoplasia	10664	CTCF	ORPHA:363611
HP:0003241	External genital hypoplasia	2100	ESR2	OMIM:618187
HP:0003241	External genital hypoplasia	89910	UBE3B	OMIM:244450
HP:0003241	External genital hypoplasia	9427	ECEL1	OMIM:615065
HP:0003241	External genital hypoplasia	2263	FGFR2	OMIM:207410
HP:0003241	External genital hypoplasia	2263	FGFR2	OMIM:123790
HP:0003241	External genital hypoplasia	145173	B3GLCT	OMIM:261540
HP:0003241	External genital hypoplasia	145173	B3GLCT	ORPHA:709
HP:0003241	External genital hypoplasia	55012	PPP2R3C	OMIM:618419
HP:0003241	External genital hypoplasia	25886	POC1A	OMIM:614813
HP:0003241	External genital hypoplasia	2571	GAD1	OMIM:619124
HP:0003241	External genital hypoplasia	81620	CDT1	ORPHA:2554
HP:0003241	External genital hypoplasia	51053	GMNN	ORPHA:2554
HP:0003241	External genital hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0003241	External genital hypoplasia	2535	FZD2	OMIM:164745
HP:0003241	External genital hypoplasia	10236	HNRNPR	OMIM:620073
HP:0003241	External genital hypoplasia	6595	SMARCA2	OMIM:619293
HP:0003241	External genital hypoplasia	64840	PORCN	OMIM:305600
HP:0003241	External genital hypoplasia	367	AR	OMIM:300068
HP:0003241	External genital hypoplasia	5447	POR	OMIM:201750
HP:0003241	External genital hypoplasia	92002	CCNQ	ORPHA:140952
HP:0003241	External genital hypoplasia	92002	CCNQ	OMIM:300707
HP:0003241	External genital hypoplasia	23522	KAT6B	OMIM:606170
HP:0003241	External genital hypoplasia	55636	CHD7	OMIM:214800
HP:0003241	External genital hypoplasia	55636	CHD7	ORPHA:138
HP:0003241	External genital hypoplasia	5000	ORC4	OMIM:613800
HP:0003241	External genital hypoplasia	9723	SEMA3E	ORPHA:138
HP:0003241	External genital hypoplasia	242	ALOX12B	OMIM:242100
HP:0003241	External genital hypoplasia	59344	ALOXE3	OMIM:242100
HP:0003241	External genital hypoplasia	11020	IFT27	OMIM:615996
HP:0003241	External genital hypoplasia	10806	SDCCAG8	OMIM:615993
HP:0003241	External genital hypoplasia	9791	PTDSS1	ORPHA:2658
HP:0003241	External genital hypoplasia	8818	DPM2	ORPHA:329178
HP:0003241	External genital hypoplasia	5189	PEX1	ORPHA:3220
HP:0003241	External genital hypoplasia	5190	PEX6	ORPHA:3220
HP:0003241	External genital hypoplasia	51715	RAB23	OMIM:201000
HP:0003241	External genital hypoplasia	51715	RAB23	ORPHA:65759
HP:0003241	External genital hypoplasia	57492	ARID1B	ORPHA:251056
HP:0003241	External genital hypoplasia	388015	RTL1	ORPHA:96334
HP:0003241	External genital hypoplasia	8788	DLK1	ORPHA:96334
HP:0003241	External genital hypoplasia	55384	MEG3	ORPHA:96334
HP:0003241	External genital hypoplasia	5889	RAD51C	OMIM:613390
HP:0003241	External genital hypoplasia	284654	RSPO1	OMIM:610644
HP:0003241	External genital hypoplasia	8813	DPM1	ORPHA:79322
HP:0003241	External genital hypoplasia	54903	MKS1	OMIM:249000
HP:0003241	External genital hypoplasia	583	BBS2	OMIM:615981
HP:0003241	External genital hypoplasia	585	BBS4	OMIM:615982
HP:0003241	External genital hypoplasia	8195	MKKS	OMIM:605231
HP:0003241	External genital hypoplasia	64374	SIL1	ORPHA:559
HP:0003241	External genital hypoplasia	51763	INPP5K	ORPHA:559
HP:0003241	External genital hypoplasia	4089	SMAD4	ORPHA:2588
HP:0003241	External genital hypoplasia	6658	SOX3	ORPHA:393
HP:0003241	External genital hypoplasia	6658	SOX3	ORPHA:90695
HP:0003241	External genital hypoplasia	3763	KCNJ6	ORPHA:435628
HP:0003241	External genital hypoplasia	6134	RPL10	OMIM:300998
HP:0003241	External genital hypoplasia	6134	RPL10	ORPHA:459070
HP:0003241	External genital hypoplasia	8473	OGT	OMIM:300997
HP:0003241	External genital hypoplasia	84515	MCM8	OMIM:612885
HP:0003241	External genital hypoplasia	1736	DKC1	OMIM:305000
HP:0003241	External genital hypoplasia	1131	CHRM3	ORPHA:2970
HP:0003241	External genital hypoplasia	2200	FBN1	ORPHA:284979
HP:0003241	External genital hypoplasia	7258	TSPY1	ORPHA:1646
HP:0003241	External genital hypoplasia	57055	DAZ2	ORPHA:1646
HP:0003241	External genital hypoplasia	57135	DAZ4	ORPHA:1646
HP:0003241	External genital hypoplasia	8287	USP9Y	ORPHA:1646
HP:0003241	External genital hypoplasia	5940	RBMY1A1	ORPHA:1646
HP:0003241	External genital hypoplasia	57054	DAZ3	ORPHA:1646
HP:0003241	External genital hypoplasia	8653	DDX3Y	ORPHA:1646
HP:0003241	External genital hypoplasia	1617	DAZ1	ORPHA:1646
HP:0003241	External genital hypoplasia	10084	PQBP1	ORPHA:93950
HP:0003241	External genital hypoplasia	10084	PQBP1	OMIM:309500
HP:0003241	External genital hypoplasia	9150	CTDP1	OMIM:604168
HP:0003241	External genital hypoplasia	2488	FSHB	ORPHA:52901
HP:0003241	External genital hypoplasia	2488	FSHB	OMIM:229070
HP:0003241	External genital hypoplasia	1584	CYP11B1	OMIM:202010
HP:0003241	External genital hypoplasia	201134	CEP112	OMIM:619044
HP:0003241	External genital hypoplasia	131118	DNAJC19	OMIM:610198
HP:0003241	External genital hypoplasia	140801	RPL10L	OMIM:619689
HP:0003241	External genital hypoplasia	7298	TYMS	OMIM:620040
HP:0003241	External genital hypoplasia	57697	FANCM	OMIM:618086
HP:0003241	External genital hypoplasia	57697	FANCM	ORPHA:399805
HP:0003241	External genital hypoplasia	8260	NAA10	OMIM:300855
HP:0003241	External genital hypoplasia	3973	LHCGR	OMIM:176410
HP:0003241	External genital hypoplasia	79184	BRCC3	ORPHA:280679
HP:0003241	External genital hypoplasia	9820	CUL7	OMIM:273750
HP:0003241	External genital hypoplasia	1583	CYP11A1	ORPHA:289548
HP:0003241	External genital hypoplasia	1583	CYP11A1	ORPHA:168558
HP:0003241	External genital hypoplasia	55630	SLC39A4	OMIM:201100
HP:0003241	External genital hypoplasia	56154	TEX15	OMIM:617960
HP:0003241	External genital hypoplasia	56154	TEX15	ORPHA:399805
HP:0003241	External genital hypoplasia	6885	MAP3K7	OMIM:157800
HP:0003241	External genital hypoplasia	3953	LEPR	ORPHA:179494
HP:0003241	External genital hypoplasia	340719	NANOS1	ORPHA:399808
HP:0003241	External genital hypoplasia	340719	NANOS1	ORPHA:399805
HP:0003241	External genital hypoplasia	5626	PROP1	ORPHA:95494
HP:0003241	External genital hypoplasia	5626	PROP1	ORPHA:90695
HP:0003241	External genital hypoplasia	89884	LHX4	ORPHA:95494
HP:0003241	External genital hypoplasia	3170	FOXA2	ORPHA:95494
HP:0003241	External genital hypoplasia	5449	POU1F1	ORPHA:95494
HP:0003241	External genital hypoplasia	26227	PHGDH	OMIM:601815
HP:0003241	External genital hypoplasia	154197	PNLDC1	OMIM:619528
HP:0003241	External genital hypoplasia	154197	PNLDC1	ORPHA:399805
HP:0003241	External genital hypoplasia	57704	GBA2	ORPHA:320391
HP:0003241	External genital hypoplasia	5422	POLA1	ORPHA:163976
HP:0003241	External genital hypoplasia	6875	TAF4B	ORPHA:399805
HP:0003241	External genital hypoplasia	56155	TEX14	ORPHA:399805
HP:0003241	External genital hypoplasia	7516	XRCC2	ORPHA:399805
HP:0003241	External genital hypoplasia	7516	XRCC2	OMIM:619145
HP:0003241	External genital hypoplasia	254528	MEIOB	ORPHA:399805
HP:0003241	External genital hypoplasia	91057	CCDC34	ORPHA:399805
HP:0003241	External genital hypoplasia	402381	SOHLH1	ORPHA:399805
HP:0003241	External genital hypoplasia	317719	KLHL10	ORPHA:399805
HP:0003241	External genital hypoplasia	56159	TEX11	ORPHA:399805
HP:0003241	External genital hypoplasia	1080	CFTR	ORPHA:399805
HP:0003241	External genital hypoplasia	84225	ZMYND15	ORPHA:399805
HP:0003241	External genital hypoplasia	122402	TDRD9	ORPHA:399805
HP:0003241	External genital hypoplasia	93426	SYCE1	ORPHA:399805
HP:0003241	External genital hypoplasia	50511	SYCP3	ORPHA:399805
HP:0003241	External genital hypoplasia	5373	PMM2	ORPHA:79318
HP:0003241	External genital hypoplasia	2332	FMR1	ORPHA:261483
HP:0003241	External genital hypoplasia	51360	MBTPS2	ORPHA:85284
HP:0003241	External genital hypoplasia	23133	PHF8	ORPHA:85287
HP:0003241	External genital hypoplasia	3339	HSPG2	OMIM:255800
HP:0003241	External genital hypoplasia	3339	HSPG2	ORPHA:800
HP:0003241	External genital hypoplasia	26123	TCTN3	ORPHA:2753
HP:0003241	External genital hypoplasia	7507	XPA	ORPHA:910
HP:0003241	External genital hypoplasia	2071	ERCC3	ORPHA:910
HP:0003241	External genital hypoplasia	7508	XPC	ORPHA:910
HP:0003241	External genital hypoplasia	1643	DDB2	ORPHA:910
HP:0003241	External genital hypoplasia	2072	ERCC4	ORPHA:910
HP:0003241	External genital hypoplasia	2073	ERCC5	ORPHA:910
HP:0003241	External genital hypoplasia	92840	REEP6	ORPHA:791
HP:0003241	External genital hypoplasia	6094	ROM1	ORPHA:791
HP:0003241	External genital hypoplasia	6017	RLBP1	ORPHA:791
HP:0003241	External genital hypoplasia	7401	CLRN1	ORPHA:791
HP:0003241	External genital hypoplasia	24	ABCA4	ORPHA:791
HP:0003241	External genital hypoplasia	130557	ZNF513	ORPHA:791
HP:0003241	External genital hypoplasia	92211	CDHR1	ORPHA:791
HP:0003241	External genital hypoplasia	23568	ARL2BP	ORPHA:791
HP:0003241	External genital hypoplasia	6121	RPE65	ORPHA:791
HP:0003241	External genital hypoplasia	54806	AHI1	ORPHA:791
HP:0003241	External genital hypoplasia	6101	RP1	ORPHA:791
HP:0003241	External genital hypoplasia	3419	IDH3A	ORPHA:791
HP:0003241	External genital hypoplasia	4751	NEK2	ORPHA:791
HP:0003241	External genital hypoplasia	346007	EYS	ORPHA:791
HP:0003241	External genital hypoplasia	8100	IFT88	ORPHA:791
HP:0003241	External genital hypoplasia	23020	SNRNP200	ORPHA:791
HP:0003241	External genital hypoplasia	762	CA4	ORPHA:791
HP:0003241	External genital hypoplasia	138050	HGSNAT	ORPHA:791
HP:0003241	External genital hypoplasia	196	AHR	ORPHA:791
HP:0003241	External genital hypoplasia	3614	IMPDH1	ORPHA:791
HP:0003241	External genital hypoplasia	123016	TTC8	ORPHA:791
HP:0003241	External genital hypoplasia	123016	TTC8	ORPHA:110
HP:0003241	External genital hypoplasia	6103	RPGR	ORPHA:791
HP:0003241	External genital hypoplasia	1406	CRX	ORPHA:791
HP:0003241	External genital hypoplasia	5148	PDE6G	ORPHA:791
HP:0003241	External genital hypoplasia	26121	PRPF31	ORPHA:791
HP:0003241	External genital hypoplasia	4117	MAK	ORPHA:791
HP:0003241	External genital hypoplasia	25794	FSCN2	ORPHA:791
HP:0003241	External genital hypoplasia	375298	CERKL	ORPHA:791
HP:0003241	External genital hypoplasia	3420	IDH3B	ORPHA:791
HP:0003241	External genital hypoplasia	57670	KIAA1549	ORPHA:791
HP:0003241	External genital hypoplasia	7275	TUB	ORPHA:791
HP:0003241	External genital hypoplasia	24148	PRPF6	ORPHA:791
HP:0003241	External genital hypoplasia	23418	CRB1	ORPHA:791
HP:0003241	External genital hypoplasia	10461	MERTK	ORPHA:791
HP:0003241	External genital hypoplasia	57709	SLC7A14	ORPHA:791
HP:0003241	External genital hypoplasia	768206	PRCD	ORPHA:791
HP:0003241	External genital hypoplasia	7399	USH2A	ORPHA:791
HP:0003241	External genital hypoplasia	23370	ARHGEF18	ORPHA:791
HP:0003241	External genital hypoplasia	5949	RBP3	ORPHA:791
HP:0003241	External genital hypoplasia	6010	RHO	ORPHA:791
HP:0003241	External genital hypoplasia	6100	RP9	ORPHA:791
HP:0003241	External genital hypoplasia	10002	NR2E3	ORPHA:791
HP:0003241	External genital hypoplasia	9227	LRAT	ORPHA:791
HP:0003241	External genital hypoplasia	84140	FAM161A	ORPHA:791
HP:0003241	External genital hypoplasia	55812	SPATA7	ORPHA:791
HP:0003241	External genital hypoplasia	55624	POMGNT1	ORPHA:791
HP:0003241	External genital hypoplasia	55624	POMGNT1	ORPHA:899
HP:0003241	External genital hypoplasia	79797	ZNF408	ORPHA:791
HP:0003241	External genital hypoplasia	403	ARL3	ORPHA:791
HP:0003241	External genital hypoplasia	5145	PDE6A	ORPHA:791
HP:0003241	External genital hypoplasia	10210	TOPORS	ORPHA:791
HP:0003241	External genital hypoplasia	8842	PROM1	ORPHA:791
HP:0003241	External genital hypoplasia	9128	PRPF4	ORPHA:791
HP:0003241	External genital hypoplasia	145226	RDH12	ORPHA:791
HP:0003241	External genital hypoplasia	50939	IMPG2	ORPHA:791
HP:0003241	External genital hypoplasia	8481	OFD1	ORPHA:791
HP:0003241	External genital hypoplasia	49855	SCAPER	ORPHA:791
HP:0003241	External genital hypoplasia	49855	SCAPER	ORPHA:110
HP:0003241	External genital hypoplasia	9742	IFT140	ORPHA:791
HP:0003241	External genital hypoplasia	2979	GUCA1B	ORPHA:791
HP:0003241	External genital hypoplasia	1259	CNGA1	ORPHA:791
HP:0003241	External genital hypoplasia	1258	CNGB1	ORPHA:791
HP:0003241	External genital hypoplasia	60509	AGBL5	ORPHA:791
HP:0003241	External genital hypoplasia	5961	PRPH2	ORPHA:791
HP:0003241	External genital hypoplasia	388939	PCARE	ORPHA:791
HP:0003241	External genital hypoplasia	7439	BEST1	ORPHA:791
HP:0003241	External genital hypoplasia	9785	DHX38	ORPHA:791
HP:0003241	External genital hypoplasia	7287	TULP1	ORPHA:791
HP:0003241	External genital hypoplasia	5995	RGR	ORPHA:791
HP:0003241	External genital hypoplasia	9129	PRPF3	ORPHA:791
HP:0003241	External genital hypoplasia	55975	KLHL7	ORPHA:791
HP:0003241	External genital hypoplasia	3617	IMPG1	ORPHA:791
HP:0003241	External genital hypoplasia	94137	RP1L1	ORPHA:791
HP:0003241	External genital hypoplasia	5158	PDE6B	ORPHA:791
HP:0003241	External genital hypoplasia	6102	RP2	ORPHA:791
HP:0003241	External genital hypoplasia	55857	KIZ	ORPHA:791
HP:0003241	External genital hypoplasia	64218	SEMA4A	ORPHA:791
HP:0003241	External genital hypoplasia	4901	NRL	ORPHA:791
HP:0003241	External genital hypoplasia	157657	CFAP418	ORPHA:791
HP:0003241	External genital hypoplasia	157657	CFAP418	ORPHA:110
HP:0003241	External genital hypoplasia	10594	PRPF8	ORPHA:791
HP:0003241	External genital hypoplasia	6295	SAG	ORPHA:791
HP:0003241	External genital hypoplasia	6309	SC5D	ORPHA:46059
HP:0003241	External genital hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0003241	External genital hypoplasia	57560	IFT80	ORPHA:93271
HP:0003241	External genital hypoplasia	57539	WDR35	ORPHA:93271
HP:0003241	External genital hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0003241	External genital hypoplasia	129563	DIS3L2	ORPHA:2849
HP:0003241	External genital hypoplasia	84892	POMGNT2	ORPHA:899
HP:0003241	External genital hypoplasia	148789	B3GALNT2	ORPHA:899
HP:0003241	External genital hypoplasia	1282	COL4A1	ORPHA:899
HP:0003241	External genital hypoplasia	729920	CRPPA	ORPHA:899
HP:0003241	External genital hypoplasia	10329	RXYLT1	ORPHA:899
HP:0003241	External genital hypoplasia	1605	DAG1	ORPHA:899
HP:0003241	External genital hypoplasia	84197	POMK	ORPHA:899
HP:0003241	External genital hypoplasia	28514	DLL1	ORPHA:280200
HP:0003241	External genital hypoplasia	6496	SIX3	ORPHA:280200
HP:0003241	External genital hypoplasia	7050	TGIF1	ORPHA:280200
HP:0003241	External genital hypoplasia	4838	NODAL	ORPHA:280200
HP:0003241	External genital hypoplasia	6469	SHH	ORPHA:280200
HP:0003241	External genital hypoplasia	51684	SUFU	ORPHA:280200
HP:0003241	External genital hypoplasia	7546	ZIC2	ORPHA:280200
HP:0003241	External genital hypoplasia	2619	GAS1	ORPHA:280200
HP:0003241	External genital hypoplasia	84976	DISP1	ORPHA:280200
HP:0003241	External genital hypoplasia	8928	FOXH1	ORPHA:280200
HP:0003241	External genital hypoplasia	5727	PTCH1	ORPHA:280200
HP:0003241	External genital hypoplasia	50937	CDON	ORPHA:280200
HP:0003241	External genital hypoplasia	50937	CDON	ORPHA:95496
HP:0003241	External genital hypoplasia	3670	ISL1	ORPHA:93930
HP:0003241	External genital hypoplasia	92482	BBIP1	ORPHA:110
HP:0003241	External genital hypoplasia	80184	CEP290	ORPHA:110
HP:0003241	External genital hypoplasia	4867	NPHP1	ORPHA:110
HP:0003241	External genital hypoplasia	51057	WDPCP	ORPHA:110
HP:0003241	External genital hypoplasia	27241	BBS9	ORPHA:110
HP:0003241	External genital hypoplasia	84984	CEP19	ORPHA:110
HP:0003241	External genital hypoplasia	22954	TRIM32	ORPHA:110
HP:0003241	External genital hypoplasia	79738	BBS10	ORPHA:110
HP:0003241	External genital hypoplasia	55212	BBS7	ORPHA:110
HP:0003241	External genital hypoplasia	166379	BBS12	ORPHA:110
HP:0003241	External genital hypoplasia	80173	IFT74	ORPHA:110
HP:0003241	External genital hypoplasia	5396	PRRX1	ORPHA:990
HP:0003241	External genital hypoplasia	5048	PAFAH1B1	ORPHA:217385
HP:0003241	External genital hypoplasia	7531	YWHAE	ORPHA:217385
HP:0003241	External genital hypoplasia	6804	STX1A	ORPHA:904
HP:0003241	External genital hypoplasia	7461	CLIP2	ORPHA:904
HP:0003241	External genital hypoplasia	84277	DNAJC30	ORPHA:904
HP:0003241	External genital hypoplasia	8468	FKBP6	ORPHA:904
HP:0003241	External genital hypoplasia	5982	RFC2	ORPHA:904
HP:0003241	External genital hypoplasia	2969	GTF2I	ORPHA:904
HP:0003241	External genital hypoplasia	3984	LIMK1	ORPHA:904
HP:0003241	External genital hypoplasia	9569	GTF2IRD1	ORPHA:904
HP:0003241	External genital hypoplasia	155382	VPS37D	ORPHA:904
HP:0003241	External genital hypoplasia	155368	METTL27	ORPHA:904
HP:0003241	External genital hypoplasia	114049	BUD23	ORPHA:904
HP:0003241	External genital hypoplasia	7458	EIF4H	ORPHA:904
HP:0003241	External genital hypoplasia	84163	GTF2IRD2	ORPHA:904
HP:0003241	External genital hypoplasia	9275	BCL7B	ORPHA:904
HP:0003241	External genital hypoplasia	26608	TBL2	ORPHA:904
HP:0003241	External genital hypoplasia	653361	NCF1	ORPHA:904
HP:0003241	External genital hypoplasia	135886	TMEM270	ORPHA:904
HP:0003241	External genital hypoplasia	9031	BAZ1B	ORPHA:904
HP:0003241	External genital hypoplasia	5590	PRKCZ	ORPHA:1606
HP:0003241	External genital hypoplasia	2563	GABRD	ORPHA:1606
HP:0003241	External genital hypoplasia	23013	SPEN	ORPHA:1606
HP:0003241	External genital hypoplasia	8510	MMP23B	ORPHA:1606
HP:0003241	External genital hypoplasia	7798	LUZP1	ORPHA:1606
HP:0003241	External genital hypoplasia	6497	SKI	ORPHA:1606
HP:0003241	External genital hypoplasia	10630	PDPN	ORPHA:1606
HP:0003241	External genital hypoplasia	10277	UBE4B	ORPHA:1606
HP:0003241	External genital hypoplasia	8514	KCNAB2	ORPHA:1606
HP:0003241	External genital hypoplasia	473	RERE	ORPHA:1606
HP:0003241	External genital hypoplasia	63976	PRDM16	ORPHA:1606
HP:0003241	External genital hypoplasia	54897	CASZ1	ORPHA:1606
HP:0003241	External genital hypoplasia	286	ANK1	ORPHA:251066
HP:0003241	External genital hypoplasia	6091	ROBO1	ORPHA:95496
HP:0003241	External genital hypoplasia	23432	GPR161	ORPHA:95496
HP:0003241	External genital hypoplasia	3110	MNX1	ORPHA:1552
HP:0003241	External genital hypoplasia	6299	SALL1	ORPHA:857
HP:0003241	External genital hypoplasia	51339	DACT1	ORPHA:857
HP:0003241	External genital hypoplasia	2239	GPC4	ORPHA:373
HP:0003241	External genital hypoplasia	2719	GPC3	ORPHA:373
HP:0003241	External genital hypoplasia	3239	HOXD13	ORPHA:887
HP:0003241	External genital hypoplasia	64324	NSD1	ORPHA:3447
HP:0003241	External genital hypoplasia	8726	EED	ORPHA:3447
HP:0003241	External genital hypoplasia	23512	SUZ12	ORPHA:3447
HP:0003241	External genital hypoplasia	2146	EZH2	ORPHA:3447
HP:0003241	External genital hypoplasia	9897	WASHC5	ORPHA:7
HP:0003241	External genital hypoplasia	28952	CCDC22	ORPHA:7
HP:0003241	External genital hypoplasia	9915	ARNT2	ORPHA:3157
HP:0003241	External genital hypoplasia	2690	GHR	ORPHA:633
HP:0003241	External genital hypoplasia	64359	NXN	ORPHA:1507
HP:0003241	External genital hypoplasia	7841	MOGS	OMIM:606056
HP:0003241	External genital hypoplasia	5881	RAC3	OMIM:618577
HP:0003241	External genital hypoplasia	2188	FANCF	OMIM:603467
HP:0003241	External genital hypoplasia	25942	SIN3A	ORPHA:94065
HP:0003241	External genital hypoplasia	25942	SIN3A	OMIM:613406
HP:0003241	External genital hypoplasia	54809	SAMD9	OMIM:617053
HP:0003241	External genital hypoplasia	3481	IGF2	ORPHA:397590
HP:0003241	External genital hypoplasia	5324	PLAG1	ORPHA:397590
HP:0003241	External genital hypoplasia	8091	HMGA2	ORPHA:397590
HP:0003241	External genital hypoplasia	25914	RTTN	ORPHA:468631
HP:0000789	Infertility	9563	H6PD	OMIM:604931
HP:0000789	Infertility	3293	HSD17B3	ORPHA:752
HP:0000789	Infertility	3293	HSD17B3	OMIM:264300
HP:0000789	Infertility	148738	HJV	OMIM:602390
HP:0000789	Infertility	2908	NR3C1	ORPHA:786
HP:0000789	Infertility	2908	NR3C1	OMIM:615962
HP:0000789	Infertility	7681	MKRN3	OMIM:176270
HP:0000789	Infertility	3653	IPW	OMIM:176270
HP:0000789	Infertility	54551	MAGEL2	OMIM:176270
HP:0000789	Infertility	54551	MAGEL2	ORPHA:98754
HP:0000789	Infertility	54551	MAGEL2	ORPHA:177904
HP:0000789	Infertility	54551	MAGEL2	ORPHA:177901
HP:0000789	Infertility	54551	MAGEL2	ORPHA:398069
HP:0000789	Infertility	791114	PWRN1	OMIM:176270
HP:0000789	Infertility	100033413	SNORD116-1	OMIM:176270
HP:0000789	Infertility	8924	HERC2	OMIM:176270
HP:0000789	Infertility	145624	PWAR1	OMIM:176270
HP:0000789	Infertility	23742	NPAP1	OMIM:176270
HP:0000789	Infertility	338433	SNORD115-1	OMIM:176270
HP:0000789	Infertility	5626	PROP1	ORPHA:95494
HP:0000789	Infertility	5626	PROP1	ORPHA:90695
HP:0000789	Infertility	2736	GLI2	ORPHA:95494
HP:0000789	Infertility	89884	LHX4	ORPHA:95494
HP:0000789	Infertility	3170	FOXA2	ORPHA:95494
HP:0000789	Infertility	5449	POU1F1	ORPHA:95494
HP:0000789	Infertility	8820	HESX1	ORPHA:95494
HP:0000789	Infertility	5015	OTX2	ORPHA:95494
HP:0000789	Infertility	5346	PLIN1	ORPHA:280356
HP:0000789	Infertility	6492	SIM1	ORPHA:398079
HP:0000789	Infertility	57704	GBA2	ORPHA:320391
HP:0000789	Infertility	57704	GBA2	OMIM:614409
HP:0000789	Infertility	2488	FSHB	OMIM:229070
HP:0000789	Infertility	6638	SNRPN	ORPHA:98754
HP:0000789	Infertility	6638	SNRPN	ORPHA:177904
HP:0000789	Infertility	6638	SNRPN	ORPHA:177901
HP:0000789	Infertility	4692	NDN	ORPHA:98754
HP:0000789	Infertility	4692	NDN	ORPHA:177904
HP:0000789	Infertility	4692	NDN	ORPHA:177901
HP:0000789	Infertility	4948	OCA2	ORPHA:98754
HP:0000789	Infertility	4948	OCA2	ORPHA:177904
HP:0000789	Infertility	4948	OCA2	ORPHA:177901
HP:0000789	Infertility	353238	PADI6	OMIM:617234
HP:0000789	Infertility	340719	NANOS1	OMIM:615413
HP:0000789	Infertility	10273	STUB1	ORPHA:412057
HP:0000789	Infertility	654	BMP6	ORPHA:465508
HP:0000789	Infertility	3077	HFE	ORPHA:465508
HP:0000789	Infertility	3117	HLA-DQA1	OMIM:212750
HP:0000789	Infertility	3119	HLA-DQB1	OMIM:212750
HP:0000789	Infertility	64072	CDH23	ORPHA:91347
HP:0000789	Infertility	9723	SEMA3E	OMIM:146110
HP:0000789	Infertility	558	AXL	OMIM:146110
HP:0000789	Infertility	2798	GNRHR	OMIM:146110
HP:0000789	Infertility	2796	GNRH1	OMIM:146110
HP:0000789	Infertility	10011	SRA1	OMIM:146110
HP:0000789	Infertility	55717	WDR11	OMIM:146110
HP:0000789	Infertility	8822	FGF17	OMIM:146110
HP:0000789	Infertility	1848	DUSP6	OMIM:146110
HP:0000789	Infertility	81848	SPRY4	OMIM:146110
HP:0000789	Infertility	285025	CCDC141	OMIM:146110
HP:0000789	Infertility	389549	FEZF1	OMIM:146110
HP:0000789	Infertility	84984	CEP19	OMIM:615703
HP:0000789	Infertility	50846	DHH	ORPHA:168563
HP:0000789	Infertility	6658	SOX3	ORPHA:90695
HP:0000789	Infertility	374407	DNAJB13	OMIM:617091
HP:0000789	Infertility	374407	DNAJB13	ORPHA:244
HP:0000789	Infertility	139212	DNAAF6	OMIM:300991
HP:0000789	Infertility	139212	DNAAF6	ORPHA:244
HP:0000789	Infertility	1497	CTNS	OMIM:219800
HP:0000789	Infertility	125150	ZSWIM7	OMIM:619831
HP:0000789	Infertility	84074	QRICH2	OMIM:618341
HP:0000789	Infertility	10734	STAG3	OMIM:619672
HP:0000789	Infertility	285498	RNF212	OMIM:619673
HP:0000789	Infertility	124404	SEPTIN12	OMIM:614822
HP:0000789	Infertility	11055	ZPBP	OMIM:619799
HP:0000789	Infertility	144132	DNHD1	OMIM:619712
HP:0000789	Infertility	83894	TTC29	OMIM:618745
HP:0000789	Infertility	8556	CDC14A	OMIM:608653
HP:0000789	Infertility	7258	TSPY1	ORPHA:1646
HP:0000789	Infertility	57055	DAZ2	ORPHA:1646
HP:0000789	Infertility	57055	DAZ2	OMIM:415000
HP:0000789	Infertility	57135	DAZ4	ORPHA:1646
HP:0000789	Infertility	8287	USP9Y	ORPHA:1646
HP:0000789	Infertility	8287	USP9Y	OMIM:415000
HP:0000789	Infertility	5940	RBMY1A1	ORPHA:1646
HP:0000789	Infertility	5940	RBMY1A1	OMIM:415000
HP:0000789	Infertility	57054	DAZ3	ORPHA:1646
HP:0000789	Infertility	57054	DAZ3	OMIM:415000
HP:0000789	Infertility	8653	DDX3Y	ORPHA:1646
HP:0000789	Infertility	8653	DDX3Y	OMIM:415000
HP:0000789	Infertility	1617	DAZ1	ORPHA:1646
HP:0000789	Infertility	1617	DAZ1	OMIM:415000
HP:0000789	Infertility	286464	CFAP47	OMIM:301059
HP:0000789	Infertility	317719	KLHL10	OMIM:615081
HP:0000789	Infertility	83449	PMFBP1	OMIM:618112
HP:0000789	Infertility	83449	PMFBP1	ORPHA:529970
HP:0000789	Infertility	317761	C14orf39	OMIM:619202
HP:0000789	Infertility	79925	SPEF2	OMIM:618751
HP:0000789	Infertility	79925	SPEF2	ORPHA:244
HP:0000789	Infertility	402381	SOHLH1	OMIM:618115
HP:0000789	Infertility	201134	CEP112	OMIM:619044
HP:0000789	Infertility	122402	TDRD9	OMIM:618110
HP:0000789	Infertility	2175	FANCA	OMIM:227650
HP:0000789	Infertility	367	AR	ORPHA:90797
HP:0000789	Infertility	367	AR	ORPHA:99429
HP:0000789	Infertility	146845	CFAP52	OMIM:619607
HP:0000789	Infertility	140801	RPL10L	OMIM:619689
HP:0000789	Infertility	56155	TEX14	OMIM:617707
HP:0000789	Infertility	254528	MEIOB	OMIM:617706
HP:0000789	Infertility	1586	CYP17A1	ORPHA:90793
HP:0000789	Infertility	2592	GALT	ORPHA:79239
HP:0000789	Infertility	2212	FCGR2A	OMIM:219700
HP:0000789	Infertility	7040	TGFB1	OMIM:219700
HP:0000789	Infertility	1080	CFTR	OMIM:219700
HP:0000789	Infertility	1080	CFTR	OMIM:277180
HP:0000789	Infertility	1080	CFTR	ORPHA:48
HP:0000789	Infertility	10388	SYCP2	OMIM:258150
HP:0000789	Infertility	286151	FBXO43	OMIM:619696
HP:0000789	Infertility	8632	DNAH17	OMIM:618643
HP:0000789	Infertility	57697	FANCM	OMIM:618086
HP:0000789	Infertility	140732	SUN5	ORPHA:529970
HP:0000789	Infertility	140732	SUN5	OMIM:617187
HP:0000789	Infertility	54970	TTC12	OMIM:618801
HP:0000789	Infertility	54970	TTC12	ORPHA:244
HP:0000789	Infertility	3973	LHCGR	ORPHA:3000
HP:0000789	Infertility	80726	IQCN	OMIM:620170
HP:0000789	Infertility	161497	STRC	ORPHA:94064
HP:0000789	Infertility	161497	STRC	OMIM:611102
HP:0000789	Infertility	161497	STRC	OMIM:612997
HP:0000789	Infertility	117155	CATSPER2	ORPHA:94064
HP:0000789	Infertility	117155	CATSPER2	OMIM:611102
HP:0000789	Infertility	117155	CATSPER2	OMIM:612997
HP:0000789	Infertility	6691	SPINK2	OMIM:618091
HP:0000789	Infertility	6795	AURKC	OMIM:243060
HP:0000789	Infertility	22873	DZIP1	OMIM:619102
HP:0000789	Infertility	80705	TSGA10	OMIM:617961
HP:0000789	Infertility	56154	TEX15	OMIM:617960
HP:0000789	Infertility	10149	ADGRG2	OMIM:300985
HP:0000789	Infertility	10149	ADGRG2	ORPHA:48
HP:0000789	Infertility	269	AMHR2	OMIM:261550
HP:0000789	Infertility	268	AMH	OMIM:261550
HP:0000789	Infertility	80173	IFT74	OMIM:619585
HP:0000789	Infertility	122481	AK7	OMIM:617965
HP:0000789	Infertility	6662	SOX9	ORPHA:251510
HP:0000789	Infertility	6845	VAMP7	ORPHA:251510
HP:0000789	Infertility	51741	WWOX	ORPHA:251510
HP:0000789	Infertility	4214	MAP3K1	ORPHA:251510
HP:0000789	Infertility	2516	NR5A1	ORPHA:251510
HP:0000789	Infertility	7490	WT1	ORPHA:251510
HP:0000789	Infertility	58524	DMRT3	ORPHA:251510
HP:0000789	Infertility	57647	DHX37	ORPHA:251510
HP:0000789	Infertility	6736	SRY	ORPHA:251510
HP:0000789	Infertility	6736	SRY	ORPHA:1772
HP:0000789	Infertility	23414	ZFPM2	ORPHA:251510
HP:0000789	Infertility	190	NR0B1	ORPHA:251510
HP:0000789	Infertility	2626	GATA4	ORPHA:251510
HP:0000789	Infertility	130951	M1AP	OMIM:619108
HP:0000789	Infertility	9082	XKRY	OMIM:415000
HP:0000789	Infertility	8284	KDM5D	OMIM:415000
HP:0000789	Infertility	442862	PRY2	OMIM:415000
HP:0000789	Infertility	9081	PRY	OMIM:415000
HP:0000789	Infertility	140032	RPS4Y2	OMIM:415000
HP:0000789	Infertility	9426	CDY2A	OMIM:415000
HP:0000789	Infertility	9083	BPY2	OMIM:415000
HP:0000789	Infertility	86614	HSFY1	OMIM:415000
HP:0000789	Infertility	9084	VCY	OMIM:415000
HP:0000789	Infertility	9085	CDY1	OMIM:415000
HP:0000789	Infertility	57728	WDR19	OMIM:619867
HP:0000789	Infertility	1588	CYP19A1	ORPHA:91
HP:0000789	Infertility	339829	CCDC39	OMIM:613807
HP:0000789	Infertility	339829	CCDC39	ORPHA:244
HP:0000789	Infertility	27019	DNAI1	OMIM:244400
HP:0000789	Infertility	27019	DNAI1	ORPHA:244
HP:0000789	Infertility	55012	PPP2R3C	OMIM:618420
HP:0000789	Infertility	255101	CFAP65	OMIM:618664
HP:0000789	Infertility	25981	DNAH1	OMIM:617576
HP:0000789	Infertility	25981	DNAH1	ORPHA:244
HP:0000789	Infertility	199223	TTC21A	OMIM:618429
HP:0000789	Infertility	55329	MNS1	OMIM:618948
HP:0000789	Infertility	89869	PLCZ1	OMIM:617214
HP:0000789	Infertility	64446	DNAI2	OMIM:612444
HP:0000789	Infertility	64446	DNAI2	ORPHA:244
HP:0000789	Infertility	196385	DNAH10	OMIM:619515
HP:0000789	Infertility	54456	MOV10L1	OMIM:619878
HP:0000789	Infertility	8468	FKBP6	OMIM:620103
HP:0000789	Infertility	92749	DRC1	OMIM:620222
HP:0000789	Infertility	92749	DRC1	ORPHA:244
HP:0000789	Infertility	4438	MSH4	OMIM:108420
HP:0000789	Infertility	56159	TEX11	OMIM:309120
HP:0000789	Infertility	84071	ARMC2	OMIM:618433
HP:0000789	Infertility	144406	CFAP251	OMIM:618152
HP:0000789	Infertility	401024	FSIP2	OMIM:618153
HP:0000789	Infertility	118491	CFAP70	OMIM:618670
HP:0000789	Infertility	154197	PNLDC1	OMIM:619528
HP:0000789	Infertility	84660	CCDC62	OMIM:619803
HP:0000789	Infertility	84225	ZMYND15	OMIM:615842
HP:0000789	Infertility	54919	DNAAF5	OMIM:614874
HP:0000789	Infertility	54919	DNAAF5	ORPHA:244
HP:0000789	Infertility	151254	C2CD6	OMIM:619805
HP:0000789	Infertility	145645	TERB2	OMIM:619645
HP:0000789	Infertility	283847	TERB1	OMIM:619646
HP:0000789	Infertility	85452	CFAP74	OMIM:620197
HP:0000789	Infertility	157855	KCNU1	OMIM:620196
HP:0000789	Infertility	146754	DNAH2	OMIM:619094
HP:0000789	Infertility	91057	CCDC34	OMIM:620084
HP:0000789	Infertility	1769	DNAH8	OMIM:619095
HP:0000789	Infertility	55779	CFAP44	OMIM:617593
HP:0000789	Infertility	80217	CFAP43	OMIM:617592
HP:0000789	Infertility	284382	ACTL9	OMIM:619258
HP:0000789	Infertility	375307	CATIP	OMIM:619379
HP:0000789	Infertility	4439	MSH5	OMIM:619937
HP:0000789	Infertility	9075	CLDN2	OMIM:301060
HP:0000789	Infertility	283417	DPY19L2	OMIM:613958
HP:0000789	Infertility	50511	SYCP3	OMIM:270960
HP:0000789	Infertility	9247	GCM2	ORPHA:2239
HP:0000789	Infertility	115948	ODAD3	ORPHA:244
HP:0000789	Infertility	54768	HYDIN	ORPHA:244
HP:0000789	Infertility	352909	DNAAF3	ORPHA:244
HP:0000789	Infertility	27148	STK36	ORPHA:244
HP:0000789	Infertility	51314	NME8	ORPHA:244
HP:0000789	Infertility	152110	NEK10	ORPHA:244
HP:0000789	Infertility	8481	OFD1	ORPHA:244
HP:0000789	Infertility	2302	FOXJ1	ORPHA:244
HP:0000789	Infertility	221421	RSPH9	ORPHA:244
HP:0000789	Infertility	85478	CCDC65	ORPHA:244
HP:0000789	Infertility	55036	CCDC40	ORPHA:244
HP:0000789	Infertility	51364	ZMYND10	ORPHA:244
HP:0000789	Infertility	6674	SPAG1	ORPHA:244
HP:0000789	Infertility	83544	DNAL1	ORPHA:244
HP:0000789	Infertility	89765	RSPH1	ORPHA:244
HP:0000789	Infertility	83538	ODAD4	ORPHA:244
HP:0000789	Infertility	200373	CFAP221	ORPHA:244
HP:0000789	Infertility	55172	DNAAF2	ORPHA:244
HP:0000789	Infertility	161582	DNAAF4	ORPHA:244
HP:0000789	Infertility	2622	GAS8	ORPHA:244
HP:0000789	Infertility	23639	DNAAF11	ORPHA:244
HP:0000789	Infertility	23639	DNAAF11	OMIM:614935
HP:0000789	Infertility	345895	RSPH4A	ORPHA:244
HP:0000789	Infertility	6103	RPGR	ORPHA:244
HP:0000789	Infertility	388389	CCDC103	ORPHA:244
HP:0000789	Infertility	93233	ODAD1	ORPHA:244
HP:0000789	Infertility	55130	ODAD2	ORPHA:244
HP:0000789	Infertility	1767	DNAH5	ORPHA:244
HP:0000789	Infertility	83861	RSPH3	ORPHA:244
HP:0000789	Infertility	345643	MCIDAS	ORPHA:244
HP:0000789	Infertility	56683	CFAP298	ORPHA:244
HP:0000789	Infertility	10309	CCNO	ORPHA:244
HP:0000789	Infertility	115399	LRRC56	ORPHA:244
HP:0000789	Infertility	123872	DNAAF1	ORPHA:244
HP:0000789	Infertility	85016	CFAP300	ORPHA:244
HP:0000789	Infertility	8701	DNAH11	ORPHA:244
HP:0000789	Infertility	1770	DNAH9	ORPHA:244
HP:0000789	Infertility	246176	GAS2L2	ORPHA:244
HP:0000789	Infertility	200162	SPAG17	OMIM:619380
HP:0000789	Infertility	641	BLM	ORPHA:125
HP:0000789	Infertility	93953	GCNA	OMIM:301077
HP:0000789	Infertility	116369	SLC26A8	OMIM:606766
HP:0000789	Infertility	159686	CFAP58	OMIM:619144
HP:0000789	Infertility	7516	XRCC2	OMIM:619145
HP:0000789	Infertility	199720	GGN	OMIM:619826
HP:0000789	Infertility	676	BRDT	OMIM:617644
HP:0000789	Infertility	93426	SYCE1	OMIM:616950
HP:0000789	Infertility	158401	SHOC1	OMIM:619949
HP:0000789	Infertility	5161	PDHA2	OMIM:619828
HP:0000789	Infertility	117144	CATSPER1	OMIM:612997
HP:0000789	Infertility	83893	SPATA16	OMIM:102530
HP:0000789	Infertility	5604	MAP2K1	OMIM:163950
HP:0000789	Infertility	5781	PTPN11	OMIM:163950
HP:0000789	Infertility	673	BRAF	OMIM:163950
HP:0000789	Infertility	668	FOXL2	OMIM:110100
HP:0000789	Infertility	668	FOXL2	ORPHA:572333
HP:0000789	Infertility	347688	TUBB8	OMIM:616780
HP:0000789	Infertility	347688	TUBB8	ORPHA:488191
HP:0000789	Infertility	283677	REC114	OMIM:619176
HP:0000789	Infertility	9319	TRIP13	OMIM:619011
HP:0000789	Infertility	7784	ZP3	OMIM:617712
HP:0000789	Infertility	5618	PRLR	OMIM:615555
HP:0000789	Infertility	29893	PSMC3IP	OMIM:614324
HP:0000789	Infertility	9453	GGPS1	OMIM:619518
HP:0000789	Infertility	494551	WEE2	OMIM:617996
HP:0000789	Infertility	494551	WEE2	ORPHA:488191
HP:0000789	Infertility	22917	ZP1	OMIM:615774
HP:0000789	Infertility	11077	HSF2BP	OMIM:619245
HP:0000789	Infertility	150365	MEI1	OMIM:618431
HP:0000789	Infertility	79703	TOP6BL	OMIM:618432
HP:0000789	Infertility	431705	ASTL	OMIM:619643
HP:0000789	Infertility	79983	POF1B	OMIM:300604
HP:0000789	Infertility	24145	PANX1	OMIM:618550
HP:0000789	Infertility	24145	PANX1	ORPHA:488191
HP:0000789	Infertility	197135	PATL2	ORPHA:488191
HP:0000789	Infertility	197135	PATL2	OMIM:617743
HP:0000789	Infertility	7783	ZP2	OMIM:618353
HP:0000789	Infertility	344018	FIGLA	OMIM:612310
HP:0000789	Infertility	79816	TLE6	OMIM:616814
HP:0000789	Infertility	54766	BTG4	OMIM:619009
HP:0000789	Infertility	5241	PGR	OMIM:264080
HP:0000789	Infertility	678	ZFP36L2	OMIM:620154
HP:0007946	Unilateral narrow palpebral fissure	387	RHOA	OMIM:618727
HP:0007946	Unilateral narrow palpebral fissure	79718	TBL1XR1	OMIM:602342
HP:0007946	Unilateral narrow palpebral fissure	6595	SMARCA2	OMIM:601358
HP:0007946	Unilateral narrow palpebral fissure	84570	COL25A1	ORPHA:91411
HP:0007946	Unilateral narrow palpebral fissure	79776	ZFHX4	ORPHA:91411
HP:0007948	Dense posterior cortical cataract	4952	OCRL	OMIM:309000
HP:0033800	Blistering by anatomical location	5317	PKP1	OMIM:604536
HP:0033800	Blistering by anatomical location	3848	KRT1	ORPHA:530838
HP:0033800	Blistering by anatomical location	3868	KRT16	ORPHA:2309
HP:0033800	Blistering by anatomical location	3872	KRT17	ORPHA:2309
HP:0033800	Blistering by anatomical location	3853	KRT6A	ORPHA:2309
HP:0033800	Blistering by anatomical location	3854	KRT6B	ORPHA:2309
HP:0033800	Blistering by anatomical location	1828	DSG1	OMIM:148700
HP:0033800	Blistering by anatomical location	3852	KRT5	ORPHA:158681
HP:0033800	Blistering by anatomical location	1280	COL2A1	ORPHA:85198
HP:0033800	Blistering by anatomical location	1294	COL7A1	ORPHA:79410
HP:0033800	Blistering by anatomical location	1294	COL7A1	OMIM:131850
HP:0033800	Blistering by anatomical location	1294	COL7A1	ORPHA:89843
HP:0033800	Blistering by anatomical location	977	CD151	OMIM:609057
HP:0033800	Blistering by anatomical location	23219	FBXO28	OMIM:619777
HP:0033800	Blistering by anatomical location	55612	FERMT1	OMIM:173650
HP:0033800	Blistering by anatomical location	3861	KRT14	ORPHA:69087
HP:0033800	Blistering by anatomical location	56916	SMARCAD1	OMIM:129200
HP:0033800	Blistering by anatomical location	1308	COL17A1	ORPHA:251393
HP:0033800	Blistering by anatomical location	3691	ITGB4	ORPHA:251393
HP:0033800	Blistering by anatomical location	5339	PLEC	ORPHA:79401
HP:0033800	Blistering by anatomical location	4312	MMP1	ORPHA:79408
HP:0033800	Blistering by anatomical location	3914	LAMB3	OMIM:226650
HP:0033800	Blistering by anatomical location	3914	LAMB3	ORPHA:79402
HP:0033800	Blistering by anatomical location	3655	ITGA6	OMIM:619817
HP:0033800	Blistering by anatomical location	3655	ITGA6	ORPHA:79403
HP:0033800	Blistering by anatomical location	3909	LAMA3	ORPHA:79402
HP:0033800	Blistering by anatomical location	3909	LAMA3	OMIM:619784
HP:0033800	Blistering by anatomical location	3909	LAMA3	OMIM:619783
HP:0033800	Blistering by anatomical location	3918	LAMC2	ORPHA:79402
HP:0033800	Blistering by anatomical location	3918	LAMC2	OMIM:619785
HP:0033800	Blistering by anatomical location	3918	LAMC2	OMIM:619786
HP:0033800	Blistering by anatomical location	1830	DSG3	OMIM:619226
HP:0033801	Blistering by histological location	3914	LAMB3	OMIM:226700
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:226700
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:619785
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:619786
HP:0033801	Blistering by histological location	5339	PLEC	OMIM:226730
HP:0033801	Blistering by histological location	5339	PLEC	ORPHA:158684
HP:0033801	Blistering by histological location	3691	ITGB4	OMIM:226730
HP:0033801	Blistering by histological location	3691	ITGB4	ORPHA:158684
HP:0033801	Blistering by histological location	3691	ITGB4	OMIM:619816
HP:0033801	Blistering by histological location	1308	COL17A1	OMIM:619787
HP:0033801	Blistering by histological location	3852	KRT5	ORPHA:158681
HP:0033801	Blistering by histological location	3852	KRT5	ORPHA:79397
HP:0033801	Blistering by histological location	3852	KRT5	ORPHA:79399
HP:0033801	Blistering by histological location	3852	KRT5	ORPHA:79400
HP:0033801	Blistering by histological location	3655	ITGA6	OMIM:619817
HP:0033801	Blistering by histological location	1294	COL7A1	OMIM:132000
HP:0033801	Blistering by histological location	1294	COL7A1	OMIM:226600
HP:0033801	Blistering by histological location	1294	COL7A1	OMIM:131750
HP:0033801	Blistering by histological location	4312	MMP1	OMIM:226600
HP:0033801	Blistering by histological location	3909	LAMA3	OMIM:619783
HP:0033801	Blistering by histological location	3861	KRT14	OMIM:131900
HP:0033802	Intra-epidermal blistering	5339	PLEC	OMIM:612138
HP:0033802	Intra-epidermal blistering	5339	PLEC	OMIM:226670
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:619555
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:609352
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:131960
HP:0033802	Intra-epidermal blistering	3691	ITGB4	OMIM:619816
HP:0033802	Intra-epidermal blistering	3861	KRT14	OMIM:131900
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:132000
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:226600
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:131750
HP:0033803	Sub-lamina densa cleavage	4312	MMP1	OMIM:226600
HP:0033804	Subepidermal blistering	3914	LAMB3	OMIM:226700
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:226700
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:619785
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:619786
HP:0033804	Subepidermal blistering	5339	PLEC	OMIM:226730
HP:0033804	Subepidermal blistering	5339	PLEC	ORPHA:158684
HP:0033804	Subepidermal blistering	3691	ITGB4	OMIM:226730
HP:0033804	Subepidermal blistering	3691	ITGB4	ORPHA:158684
HP:0033804	Subepidermal blistering	3691	ITGB4	OMIM:619816
HP:0033804	Subepidermal blistering	1308	COL17A1	OMIM:619787
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:158681
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79397
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79399
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79400
HP:0033804	Subepidermal blistering	3655	ITGA6	OMIM:619817
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79397
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79399
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79400
HP:0033804	Subepidermal blistering	1294	COL7A1	OMIM:132000
HP:0033804	Subepidermal blistering	1294	COL7A1	OMIM:226600
HP:0033804	Subepidermal blistering	1294	COL7A1	OMIM:131750
HP:0033804	Subepidermal blistering	4312	MMP1	OMIM:226600
HP:0033804	Subepidermal blistering	3909	LAMA3	OMIM:619783
HP:0000790	Hematuria	26191	PTPN22	ORPHA:397
HP:0000790	Hematuria	26191	PTPN22	ORPHA:900
HP:0000790	Hematuria	3106	HLA-B	ORPHA:397
HP:0000790	Hematuria	3123	HLA-DRB1	ORPHA:397
HP:0000790	Hematuria	8974	P4HA2	ORPHA:397
HP:0000790	Hematuria	55746	NUP133	OMIM:618349
HP:0000790	Hematuria	4179	CD46	OMIM:612922
HP:0000790	Hematuria	6775	STAT4	ORPHA:93552
HP:0000790	Hematuria	6696	SPP1	ORPHA:93552
HP:0000790	Hematuria	3654	IRAK1	ORPHA:93552
HP:0000790	Hematuria	629	CFB	OMIM:612924
HP:0000790	Hematuria	56606	SLC2A9	ORPHA:94088
HP:0000790	Hematuria	116085	SLC22A12	ORPHA:94088
HP:0000790	Hematuria	3426	CFI	OMIM:612923
HP:0000790	Hematuria	1776	DNASE1L3	ORPHA:36412
HP:0000790	Hematuria	7056	THBD	OMIM:612926
HP:0000790	Hematuria	718	C3	OMIM:612925
HP:0000790	Hematuria	3655	ITGA6	ORPHA:79403
HP:0000790	Hematuria	3691	ITGB4	ORPHA:79403
HP:0000790	Hematuria	6720	SREBF1	OMIM:158310
HP:0000790	Hematuria	23607	CD2AP	OMIM:607832
HP:0000790	Hematuria	9380	GRHPR	OMIM:260000
HP:0000790	Hematuria	23395	LARS2	OMIM:617021
HP:0000790	Hematuria	3162	HMOX1	OMIM:614034
HP:0000790	Hematuria	25959	KANK2	OMIM:617783
HP:0000790	Hematuria	10413	YAP1	ORPHA:1473
HP:0000790	Hematuria	10413	YAP1	OMIM:120433
HP:0000790	Hematuria	10686	CLDN16	OMIM:248250
HP:0000790	Hematuria	7248	TSC1	ORPHA:538
HP:0000790	Hematuria	7249	TSC2	ORPHA:538
HP:0000790	Hematuria	1286	COL4A4	OMIM:141200
HP:0000790	Hematuria	1286	COL4A4	OMIM:203780
HP:0000790	Hematuria	6523	SLC5A1	ORPHA:35710
HP:0000790	Hematuria	4952	OCRL	ORPHA:534
HP:0000790	Hematuria	5978	REST	ORPHA:654
HP:0000790	Hematuria	129563	DIS3L2	ORPHA:654
HP:0000790	Hematuria	675	BRCA2	ORPHA:654
HP:0000790	Hematuria	9319	TRIP13	ORPHA:654
HP:0000790	Hematuria	7490	WT1	ORPHA:654
HP:0000790	Hematuria	10155	TRIM28	ORPHA:654
HP:0000790	Hematuria	11281	POU6F2	ORPHA:654
HP:0000790	Hematuria	2719	GPC3	ORPHA:654
HP:0000790	Hematuria	283120	H19	ORPHA:654
HP:0000790	Hematuria	51726	DNAJB11	ORPHA:730
HP:0000790	Hematuria	23193	GANAB	ORPHA:730
HP:0000790	Hematuria	5310	PKD1	ORPHA:730
HP:0000790	Hematuria	5311	PKD2	ORPHA:730
HP:0000790	Hematuria	29880	ALG5	ORPHA:730
HP:0000790	Hematuria	9742	IFT140	ORPHA:730
HP:0000790	Hematuria	79796	ALG9	ORPHA:730
HP:0000790	Hematuria	80114	BICC1	ORPHA:730
HP:0000790	Hematuria	3043	HBB	OMIM:603903
HP:0000790	Hematuria	353	APRT	OMIM:614723
HP:0000790	Hematuria	1801	DPH1	OMIM:616901
HP:0000790	Hematuria	55109	AGGF1	ORPHA:90308
HP:0000790	Hematuria	2159	F10	ORPHA:328
HP:0000790	Hematuria	7428	VHL	ORPHA:276621
HP:0000790	Hematuria	7428	VHL	ORPHA:29072
HP:0000790	Hematuria	5979	RET	ORPHA:276621
HP:0000790	Hematuria	5979	RET	ORPHA:29072
HP:0000790	Hematuria	1788	DNMT3A	ORPHA:276621
HP:0000790	Hematuria	2034	EPAS1	ORPHA:276621
HP:0000790	Hematuria	6392	SDHD	ORPHA:276621
HP:0000790	Hematuria	6392	SDHD	ORPHA:29072
HP:0000790	Hematuria	6390	SDHB	ORPHA:276621
HP:0000790	Hematuria	6390	SDHB	ORPHA:29072
HP:0000790	Hematuria	2717	GLA	ORPHA:324
HP:0000790	Hematuria	2153	F5	ORPHA:326
HP:0000790	Hematuria	84818	IL17RC	ORPHA:1334
HP:0000790	Hematuria	64581	CLEC7A	ORPHA:1334
HP:0000790	Hematuria	23765	IL17RA	ORPHA:1334
HP:0000790	Hematuria	10758	TRAF3IP2	ORPHA:1334
HP:0000790	Hematuria	112744	IL17F	ORPHA:1334
HP:0000790	Hematuria	27031	NPHP3	OMIM:604387
HP:0000790	Hematuria	54	ACP5	ORPHA:1855
HP:0000790	Hematuria	4069	LYZ	OMIM:105200
HP:0000790	Hematuria	2243	FGA	OMIM:105200
HP:0000790	Hematuria	335	APOA1	OMIM:105200
HP:0000790	Hematuria	567	B2M	OMIM:105200
HP:0000790	Hematuria	3251	HPRT1	ORPHA:510
HP:0000790	Hematuria	11277	TREX1	OMIM:192315
HP:0000790	Hematuria	6711	SPTBN1	OMIM:619475
HP:0000790	Hematuria	189	AGXT	OMIM:259900
HP:0000790	Hematuria	189	AGXT	ORPHA:93598
HP:0000790	Hematuria	1743	DLST	ORPHA:29072
HP:0000790	Hematuria	4191	MDH2	ORPHA:29072
HP:0000790	Hematuria	6389	SDHA	ORPHA:29072
HP:0000790	Hematuria	23095	KIF1B	ORPHA:29072
HP:0000790	Hematuria	2271	FH	ORPHA:29072
HP:0000790	Hematuria	8402	SLC25A11	ORPHA:29072
HP:0000790	Hematuria	54949	SDHAF2	ORPHA:29072
HP:0000790	Hematuria	55654	TMEM127	ORPHA:29072
HP:0000790	Hematuria	4763	NF1	ORPHA:29072
HP:0000790	Hematuria	6391	SDHC	ORPHA:29072
HP:0000790	Hematuria	4149	MAX	ORPHA:29072
HP:0000790	Hematuria	1282	COL4A1	ORPHA:73229
HP:0000790	Hematuria	1282	COL4A1	OMIM:611773
HP:0000790	Hematuria	1493	CTLA4	ORPHA:900
HP:0000790	Hematuria	3115	HLA-DPB1	ORPHA:900
HP:0000790	Hematuria	5657	PRTN3	ORPHA:900
HP:0000790	Hematuria	3113	HLA-DPA1	ORPHA:900
HP:0000790	Hematuria	5345	SERPINF2	ORPHA:79
HP:0000790	Hematuria	3075	CFH	OMIM:609814
HP:0000790	Hematuria	3998	LMAN1	ORPHA:35909
HP:0000790	Hematuria	90411	MCFD2	ORPHA:35909
HP:0000790	Hematuria	9688	NUP93	OMIM:616892
HP:0000790	Hematuria	6786	STIM1	OMIM:185070
HP:0000790	Hematuria	2625	GATA3	OMIM:146255
HP:0000790	Hematuria	10253	SPRY2	OMIM:616818
HP:0000790	Hematuria	2811	GP1BA	ORPHA:853
HP:0000790	Hematuria	2812	GP1BB	ORPHA:853
HP:0000790	Hematuria	3674	ITGA2B	ORPHA:853
HP:0000790	Hematuria	3673	ITGA2	ORPHA:853
HP:0000790	Hematuria	135228	CD109	ORPHA:853
HP:0000790	Hematuria	3690	ITGB3	ORPHA:853
HP:0000790	Hematuria	2658	GDF2	ORPHA:774
HP:0000790	Hematuria	94	ACVRL1	ORPHA:774
HP:0000790	Hematuria	4089	SMAD4	ORPHA:774
HP:0000790	Hematuria	2022	ENG	ORPHA:774
HP:0000790	Hematuria	149461	CLDN19	ORPHA:2196
HP:0000790	Hematuria	2157	F8	ORPHA:169805
HP:0000790	Hematuria	5213	PFKM	OMIM:232800
HP:0000790	Hematuria	6928	HNF1B	ORPHA:1309
HP:0000790	Hematuria	4853	NOTCH2	OMIM:610205
HP:0000790	Hematuria	6774	STAT3	ORPHA:520
HP:0000790	Hematuria	5371	PML	ORPHA:520
HP:0000790	Hematuria	5914	RARA	ORPHA:520
HP:0000790	Hematuria	359948	IRF2BP2	ORPHA:520
HP:0000790	Hematuria	81608	FIP1L1	ORPHA:520
HP:0000790	Hematuria	4869	NPM1	ORPHA:520
HP:0000790	Hematuria	5573	PRKAR1A	ORPHA:520
HP:0000790	Hematuria	54880	BCOR	ORPHA:520
HP:0000790	Hematuria	64859	NABP1	ORPHA:520
HP:0000790	Hematuria	6777	STAT5B	ORPHA:520
HP:0000790	Hematuria	4926	NUMA1	ORPHA:520
HP:0000790	Hematuria	7704	ZBTB16	ORPHA:520
HP:0000790	Hematuria	79718	TBL1XR1	ORPHA:520
HP:0000790	Hematuria	2629	GBA1	ORPHA:77261
HP:0000790	Hematuria	2629	GBA1	ORPHA:77259
HP:0000790	Hematuria	10568	SLC34A2	ORPHA:60025
HP:0000790	Hematuria	4643	MYO1E	OMIM:614131
HP:0000790	Hematuria	7372	UMPS	OMIM:258900
HP:0000790	Hematuria	112817	HOGA1	ORPHA:93600
HP:0000790	Hematuria	25974	MMACHC	OMIM:277400
HP:0000790	Hematuria	5052	PRDX1	OMIM:277400
HP:0000790	Hematuria	22909	FAN1	OMIM:614817
HP:0000790	Hematuria	950	SCARB2	ORPHA:77259
HP:0000790	Hematuria	1288	COL4A6	ORPHA:1018
HP:0000790	Hematuria	1497	CTNS	OMIM:219800
HP:0000790	Hematuria	1497	CTNS	ORPHA:411634
HP:0000790	Hematuria	9663	LPIN2	ORPHA:77297
HP:0000790	Hematuria	5076	PAX2	ORPHA:97362
HP:0000790	Hematuria	5087	PBX1	ORPHA:97362
HP:0000790	Hematuria	9722	NOS1AP	OMIM:619155
HP:0000790	Hematuria	8029	CUBN	OMIM:261100
HP:0000790	Hematuria	4010	LMX1B	ORPHA:2613
HP:0000790	Hematuria	64423	INF2	OMIM:613237
HP:0000790	Hematuria	84823	LMNB2	ORPHA:79087
HP:0000790	Hematuria	1285	COL4A3	OMIM:104200
HP:0000790	Hematuria	1184	CLCN5	OMIM:310468
HP:0000790	Hematuria	1184	CLCN5	OMIM:308990
HP:0000790	Hematuria	1184	CLCN5	OMIM:300009
HP:0000790	Hematuria	2335	FN1	ORPHA:84090
HP:0000790	Hematuria	2335	FN1	OMIM:601894
HP:0000790	Hematuria	2147	F2	ORPHA:325
HP:0000790	Hematuria	81494	CFHR5	OMIM:614809
HP:0000790	Hematuria	23630	KCNE5	ORPHA:86818
HP:0000790	Hematuria	2182	ACSL4	ORPHA:86818
HP:0000790	Hematuria	9949	AMMECR1	ORPHA:86818
HP:0000790	Hematuria	79902	NUP85	OMIM:618176
HP:0000790	Hematuria	50485	SMARCAL1	ORPHA:1830
HP:0000790	Hematuria	2542	SLC37A4	OMIM:619525
HP:0000790	Hematuria	11093	ADAMTS13	OMIM:274150
HP:0000790	Hematuria	1287	COL4A5	OMIM:301050
HP:0000790	Hematuria	975	CD81	OMIM:613496
HP:0000790	Hematuria	2815	GP9	ORPHA:274
HP:0000791	Uric acid nephrolithiasis	5631	PRPS1	ORPHA:411543
HP:0000791	Uric acid nephrolithiasis	5631	PRPS1	ORPHA:411536
HP:0000791	Uric acid nephrolithiasis	5631	PRPS1	OMIM:300661
HP:0000791	Uric acid nephrolithiasis	116085	SLC22A12	OMIM:220150
HP:0000791	Uric acid nephrolithiasis	3251	HPRT1	ORPHA:79233
HP:0000791	Uric acid nephrolithiasis	353	APRT	ORPHA:976
HP:0000791	Uric acid nephrolithiasis	56606	SLC2A9	ORPHA:94088
HP:0000793	Membranoproliferative glomerulonephritis	54345	SOX18	OMIM:137940
HP:0000793	Membranoproliferative glomerulonephritis	57169	ZNFX1	OMIM:619644
HP:0000793	Membranoproliferative glomerulonephritis	84823	LMNB2	OMIM:608709
HP:0000793	Membranoproliferative glomerulonephritis	1777	DNASE2	OMIM:619858
HP:0000793	Membranoproliferative glomerulonephritis	712	C1QA	OMIM:613652
HP:0000793	Membranoproliferative glomerulonephritis	5238	PGM3	ORPHA:443811
HP:0000793	Membranoproliferative glomerulonephritis	5238	PGM3	OMIM:615816
HP:0000793	Membranoproliferative glomerulonephritis	2542	SLC37A4	OMIM:619525
HP:0000793	Membranoproliferative glomerulonephritis	8526	DGKE	OMIM:615008
HP:0000793	Membranoproliferative glomerulonephritis	718	C3	OMIM:613779
HP:0000794	IgA deposition in the glomerulus	57122	NUP107	OMIM:616730
HP:0000794	IgA deposition in the glomerulus	57122	NUP107	OMIM:618348
HP:0000794	IgA deposition in the glomerulus	4312	MMP1	ORPHA:79408
HP:0000794	IgA deposition in the glomerulus	1294	COL7A1	ORPHA:79408
HP:0000794	IgA deposition in the glomerulus	10253	SPRY2	OMIM:616818
HP:0000795	Abnormality of the urethra	5566	PRKACA	ORPHA:289
HP:0000795	Abnormality of the urethra	5567	PRKACB	ORPHA:289
HP:0000795	Abnormality of the urethra	2735	GLI1	ORPHA:289
HP:0000795	Abnormality of the urethra	2121	EVC	ORPHA:289
HP:0000795	Abnormality of the urethra	2121	EVC	OMIM:225500
HP:0000795	Abnormality of the urethra	51626	DYNC2LI1	ORPHA:289
HP:0000795	Abnormality of the urethra	132884	EVC2	ORPHA:289
HP:0000795	Abnormality of the urethra	132884	EVC2	OMIM:225500
HP:0000795	Abnormality of the urethra	29123	ANKRD11	OMIM:148050
HP:0000795	Abnormality of the urethra	26005	C2CD3	ORPHA:434179
HP:0000795	Abnormality of the urethra	26005	C2CD3	OMIM:615948
HP:0000795	Abnormality of the urethra	1857	DVL3	ORPHA:3107
HP:0000795	Abnormality of the urethra	7474	WNT5A	ORPHA:3107
HP:0000795	Abnormality of the urethra	1855	DVL1	ORPHA:3107
HP:0000795	Abnormality of the urethra	2535	FZD2	ORPHA:3107
HP:0000795	Abnormality of the urethra	3845	KRAS	ORPHA:3339
HP:0000795	Abnormality of the urethra	9791	PTDSS1	ORPHA:2658
HP:0000795	Abnormality of the urethra	6736	SRY	ORPHA:1772
HP:0000795	Abnormality of the urethra	63895	PIEZO2	ORPHA:2461
HP:0000795	Abnormality of the urethra	3670	ISL1	ORPHA:93930
HP:0000795	Abnormality of the urethra	81620	CDT1	ORPHA:2554
HP:0000795	Abnormality of the urethra	5000	ORC4	ORPHA:2554
HP:0000795	Abnormality of the urethra	23594	ORC6	ORPHA:2554
HP:0000795	Abnormality of the urethra	990	CDC6	ORPHA:2554
HP:0000795	Abnormality of the urethra	4998	ORC1	ORPHA:2554
HP:0000795	Abnormality of the urethra	51053	GMNN	ORPHA:2554
HP:0000795	Abnormality of the urethra	4089	SMAD4	ORPHA:2588
HP:0000795	Abnormality of the urethra	54539	NDUFB11	ORPHA:2556
HP:0000795	Abnormality of the urethra	1349	COX7B	ORPHA:2556
HP:0000795	Abnormality of the urethra	3052	HCCS	ORPHA:2556
HP:0000795	Abnormality of the urethra	26235	FBXL4	OMIM:615471
HP:0000795	Abnormality of the urethra	1947	EFNB1	ORPHA:1520
HP:0000795	Abnormality of the urethra	1947	EFNB1	OMIM:304110
HP:0000795	Abnormality of the urethra	4204	MECP2	ORPHA:1762
HP:0000795	Abnormality of the urethra	4204	MECP2	OMIM:300260
HP:0000795	Abnormality of the urethra	6938	TCF12	OMIM:619718
HP:0000795	Abnormality of the urethra	9820	CUL7	ORPHA:2616
HP:0000795	Abnormality of the urethra	9820	CUL7	OMIM:273750
HP:0000795	Abnormality of the urethra	23363	OBSL1	ORPHA:2616
HP:0000795	Abnormality of the urethra	83987	CCDC8	ORPHA:2616
HP:0000795	Abnormality of the urethra	9786	KIAA0586	ORPHA:397715
HP:0000795	Abnormality of the urethra	267010	RNU12	OMIM:603116
HP:0000795	Abnormality of the urethra	5932	RBBP8	OMIM:606744
HP:0000795	Abnormality of the urethra	116931	MED12L	OMIM:618872
HP:0000795	Abnormality of the urethra	9578	CDC42BPB	OMIM:619841
HP:0000795	Abnormality of the urethra	1586	CYP17A1	ORPHA:90796
HP:0000795	Abnormality of the urethra	1586	CYP17A1	ORPHA:90793
HP:0000795	Abnormality of the urethra	8239	USP9X	OMIM:300919
HP:0000795	Abnormality of the urethra	5189	PEX1	OMIM:214100
HP:0000795	Abnormality of the urethra	5189	PEX1	ORPHA:912
HP:0000795	Abnormality of the urethra	284058	KANSL1	ORPHA:363958
HP:0000795	Abnormality of the urethra	284058	KANSL1	ORPHA:363965
HP:0000795	Abnormality of the urethra	4853	NOTCH2	OMIM:102500
HP:0000795	Abnormality of the urethra	4853	NOTCH2	ORPHA:955
HP:0000795	Abnormality of the urethra	9968	MED12	ORPHA:93932
HP:0000795	Abnormality of the urethra	9968	MED12	OMIM:305450
HP:0000795	Abnormality of the urethra	7020	TFAP2A	OMIM:113620
HP:0000795	Abnormality of the urethra	1281	COL3A1	ORPHA:286
HP:0000795	Abnormality of the urethra	23347	SMCHD1	OMIM:603457
HP:0000795	Abnormality of the urethra	10815	CPLX1	ORPHA:280
HP:0000795	Abnormality of the urethra	10815	CPLX1	OMIM:194190
HP:0000795	Abnormality of the urethra	54872	PIGG	ORPHA:280
HP:0000795	Abnormality of the urethra	7469	NELFA	ORPHA:280
HP:0000795	Abnormality of the urethra	1487	CTBP1	ORPHA:280
HP:0000795	Abnormality of the urethra	1487	CTBP1	OMIM:194190
HP:0000795	Abnormality of the urethra	3954	LETM1	ORPHA:280
HP:0000795	Abnormality of the urethra	3954	LETM1	OMIM:194190
HP:0000795	Abnormality of the urethra	7468	NSD2	ORPHA:280
HP:0000795	Abnormality of the urethra	7468	NSD2	OMIM:194190
HP:0000795	Abnormality of the urethra	54968	TMEM70	OMIM:614052
HP:0000795	Abnormality of the urethra	54968	TMEM70	ORPHA:1194
HP:0000795	Abnormality of the urethra	833	CARS1	OMIM:618891
HP:0000795	Abnormality of the urethra	57178	ZMIZ1	OMIM:618659
HP:0000795	Abnormality of the urethra	8642	DCHS1	OMIM:601390
HP:0000795	Abnormality of the urethra	8642	DCHS1	ORPHA:314679
HP:0000795	Abnormality of the urethra	26040	SETBP1	OMIM:269150
HP:0000795	Abnormality of the urethra	26040	SETBP1	ORPHA:798
HP:0000795	Abnormality of the urethra	3981	LIG4	ORPHA:235
HP:0000795	Abnormality of the urethra	54888	NSUN2	ORPHA:235
HP:0000795	Abnormality of the urethra	8260	NAA10	OMIM:309800
HP:0000795	Abnormality of the urethra	8260	NAA10	ORPHA:568
HP:0000795	Abnormality of the urethra	54880	BCOR	OMIM:309800
HP:0000795	Abnormality of the urethra	54880	BCOR	ORPHA:568
HP:0000795	Abnormality of the urethra	54880	BCOR	OMIM:300166
HP:0000795	Abnormality of the urethra	54914	FOCAD	OMIM:619991
HP:0000795	Abnormality of the urethra	8363	H4C11	OMIM:619759
HP:0000795	Abnormality of the urethra	5590	PRKCZ	ORPHA:1606
HP:0000795	Abnormality of the urethra	2563	GABRD	ORPHA:1606
HP:0000795	Abnormality of the urethra	23013	SPEN	ORPHA:1606
HP:0000795	Abnormality of the urethra	8510	MMP23B	ORPHA:1606
HP:0000795	Abnormality of the urethra	7798	LUZP1	ORPHA:1606
HP:0000795	Abnormality of the urethra	6497	SKI	ORPHA:1606
HP:0000795	Abnormality of the urethra	10630	PDPN	ORPHA:1606
HP:0000795	Abnormality of the urethra	3339	HSPG2	ORPHA:1606
HP:0000795	Abnormality of the urethra	10277	UBE4B	ORPHA:1606
HP:0000795	Abnormality of the urethra	8514	KCNAB2	ORPHA:1606
HP:0000795	Abnormality of the urethra	473	RERE	ORPHA:1606
HP:0000795	Abnormality of the urethra	473	RERE	ORPHA:494344
HP:0000795	Abnormality of the urethra	473	RERE	OMIM:616975
HP:0000795	Abnormality of the urethra	63976	PRDM16	ORPHA:1606
HP:0000795	Abnormality of the urethra	54897	CASZ1	ORPHA:1606
HP:0000795	Abnormality of the urethra	6134	RPL10	ORPHA:459070
HP:0000795	Abnormality of the urethra	6134	RPL10	OMIM:300998
HP:0000795	Abnormality of the urethra	6134	RPL10	ORPHA:435938
HP:0000795	Abnormality of the urethra	1859	DYRK1A	ORPHA:464311
HP:0000795	Abnormality of the urethra	1859	DYRK1A	ORPHA:268261
HP:0000795	Abnormality of the urethra	9772	TMEM94	OMIM:618316
HP:0000795	Abnormality of the urethra	79633	FAT4	ORPHA:314679
HP:0000795	Abnormality of the urethra	79633	FAT4	OMIM:615546
HP:0000795	Abnormality of the urethra	2239	GPC4	ORPHA:373
HP:0000795	Abnormality of the urethra	2239	GPC4	OMIM:312870
HP:0000795	Abnormality of the urethra	2719	GPC3	ORPHA:373
HP:0000795	Abnormality of the urethra	2719	GPC3	OMIM:312870
HP:0000795	Abnormality of the urethra	2260	FGFR1	OMIM:166250
HP:0000795	Abnormality of the urethra	2260	FGFR1	OMIM:615465
HP:0000795	Abnormality of the urethra	25836	NIPBL	OMIM:122470
HP:0000795	Abnormality of the urethra	25836	NIPBL	ORPHA:199
HP:0000795	Abnormality of the urethra	9725	TMEM63A	OMIM:618688
HP:0000795	Abnormality of the urethra	7476	WNT7A	OMIM:276820
HP:0000795	Abnormality of the urethra	54361	WNT4	OMIM:611812
HP:0000795	Abnormality of the urethra	54361	WNT4	ORPHA:139466
HP:0000795	Abnormality of the urethra	79087	ALG12	ORPHA:79324
HP:0000795	Abnormality of the urethra	79087	ALG12	OMIM:607143
HP:0000795	Abnormality of the urethra	9896	FIG4	OMIM:216340
HP:0000795	Abnormality of the urethra	9896	FIG4	ORPHA:3472
HP:0000795	Abnormality of the urethra	6135	RPL11	ORPHA:124
HP:0000795	Abnormality of the urethra	6138	RPL15	ORPHA:124
HP:0000795	Abnormality of the urethra	6229	RPS24	ORPHA:124
HP:0000795	Abnormality of the urethra	6125	RPL5	ORPHA:124
HP:0000795	Abnormality of the urethra	6204	RPS10	ORPHA:124
HP:0000795	Abnormality of the urethra	6224	RPS20	ORPHA:124
HP:0000795	Abnormality of the urethra	6165	RPL35A	ORPHA:124
HP:0000795	Abnormality of the urethra	6165	RPL35A	OMIM:612528
HP:0000795	Abnormality of the urethra	2623	GATA1	ORPHA:124
HP:0000795	Abnormality of the urethra	6223	RPS19	ORPHA:124
HP:0000795	Abnormality of the urethra	6232	RPS27	ORPHA:124
HP:0000795	Abnormality of the urethra	6231	RPS26	ORPHA:124
HP:0000795	Abnormality of the urethra	11224	RPL35	ORPHA:124
HP:0000795	Abnormality of the urethra	6160	RPL31	ORPHA:124
HP:0000795	Abnormality of the urethra	6218	RPS17	ORPHA:124
HP:0000795	Abnormality of the urethra	6201	RPS7	ORPHA:124
HP:0000795	Abnormality of the urethra	6155	RPL27	ORPHA:124
HP:0000795	Abnormality of the urethra	6154	RPL26	ORPHA:124
HP:0000795	Abnormality of the urethra	6210	RPS15A	ORPHA:124
HP:0000795	Abnormality of the urethra	90121	TSR2	ORPHA:124
HP:0000795	Abnormality of the urethra	6141	RPL18	ORPHA:124
HP:0000795	Abnormality of the urethra	6235	RPS29	ORPHA:124
HP:0000795	Abnormality of the urethra	6234	RPS28	ORPHA:124
HP:0000795	Abnormality of the urethra	51816	ADA2	ORPHA:124
HP:0000795	Abnormality of the urethra	1523	CUX1	OMIM:618330
HP:0000795	Abnormality of the urethra	5426	POLE	OMIM:618336
HP:0000795	Abnormality of the urethra	5426	POLE	ORPHA:85173
HP:0000795	Abnormality of the urethra	81603	TRIM8	OMIM:619428
HP:0000795	Abnormality of the urethra	22827	PUF60	ORPHA:508498
HP:0000795	Abnormality of the urethra	6477	SIAH1	OMIM:619314
HP:0000795	Abnormality of the urethra	8473	OGT	OMIM:300997
HP:0000795	Abnormality of the urethra	10765	KDM5B	OMIM:618109
HP:0000795	Abnormality of the urethra	5308	PITX2	ORPHA:782
HP:0000795	Abnormality of the urethra	5308	PITX2	OMIM:180500
HP:0000795	Abnormality of the urethra	2296	FOXC1	ORPHA:782
HP:0000795	Abnormality of the urethra	374654	KIF7	ORPHA:36
HP:0000795	Abnormality of the urethra	374654	KIF7	OMIM:200990
HP:0000795	Abnormality of the urethra	27125	AFF4	ORPHA:444077
HP:0000795	Abnormality of the urethra	1387	CREBBP	ORPHA:353281
HP:0000795	Abnormality of the urethra	1387	CREBBP	OMIM:180849
HP:0000795	Abnormality of the urethra	1387	CREBBP	ORPHA:353277
HP:0000795	Abnormality of the urethra	29998	BICRA	OMIM:619325
HP:0000795	Abnormality of the urethra	2033	EP300	ORPHA:353284
HP:0000795	Abnormality of the urethra	2033	EP300	OMIM:180849
HP:0000795	Abnormality of the urethra	26128	KIFBP	ORPHA:66629
HP:0000795	Abnormality of the urethra	3039	HBA1	ORPHA:98791
HP:0000795	Abnormality of the urethra	3040	HBA2	ORPHA:98791
HP:0000795	Abnormality of the urethra	4703	NEB	OMIM:619334
HP:0000795	Abnormality of the urethra	4703	NEB	ORPHA:171430
HP:0000795	Abnormality of the urethra	51132	RLIM	OMIM:300978
HP:0000795	Abnormality of the urethra	6928	HNF1B	OMIM:137920
HP:0000795	Abnormality of the urethra	6928	HNF1B	ORPHA:93111
HP:0000795	Abnormality of the urethra	284654	RSPO1	OMIM:610644
HP:0000795	Abnormality of the urethra	1312	COMT	ORPHA:567
HP:0000795	Abnormality of the urethra	221037	JMJD1C	ORPHA:567
HP:0000795	Abnormality of the urethra	2812	GP1BB	ORPHA:567
HP:0000795	Abnormality of the urethra	6239	RREB1	ORPHA:567
HP:0000795	Abnormality of the urethra	7290	HIRA	ORPHA:567
HP:0000795	Abnormality of the urethra	9632	SEC24C	ORPHA:567
HP:0000795	Abnormality of the urethra	7353	UFD1	ORPHA:567
HP:0000795	Abnormality of the urethra	421	ARVCF	ORPHA:567
HP:0000795	Abnormality of the urethra	10524	KAT5	OMIM:619103
HP:0000795	Abnormality of the urethra	23522	KAT6B	OMIM:603736
HP:0000795	Abnormality of the urethra	7317	UBA1	OMIM:301830
HP:0000795	Abnormality of the urethra	8802	SUCLG1	ORPHA:17
HP:0000795	Abnormality of the urethra	4700	NDUFA6	OMIM:618253
HP:0000795	Abnormality of the urethra	5144	PDE4D	ORPHA:439822
HP:0000795	Abnormality of the urethra	5144	PDE4D	OMIM:614613
HP:0000795	Abnormality of the urethra	5144	PDE4D	ORPHA:280651
HP:0000795	Abnormality of the urethra	2475	MTOR	ORPHA:457485
HP:0000795	Abnormality of the urethra	4990	SIX6	OMIM:206900
HP:0000795	Abnormality of the urethra	6657	SOX2	OMIM:206900
HP:0000795	Abnormality of the urethra	6657	SOX2	ORPHA:77298
HP:0000795	Abnormality of the urethra	6611	SMS	ORPHA:3063
HP:0000795	Abnormality of the urethra	54809	SAMD9	OMIM:617053
HP:0000795	Abnormality of the urethra	9851	KIAA0753	OMIM:619479
HP:0000795	Abnormality of the urethra	145173	B3GLCT	OMIM:261540
HP:0000795	Abnormality of the urethra	145173	B3GLCT	ORPHA:709
HP:0000795	Abnormality of the urethra	6711	SPTBN1	OMIM:619475
HP:0000795	Abnormality of the urethra	5781	PTPN11	ORPHA:500
HP:0000795	Abnormality of the urethra	5781	PTPN11	OMIM:151100
HP:0000795	Abnormality of the urethra	5781	PTPN11	OMIM:163950
HP:0000795	Abnormality of the urethra	673	BRAF	ORPHA:500
HP:0000795	Abnormality of the urethra	673	BRAF	OMIM:163950
HP:0000795	Abnormality of the urethra	5894	RAF1	ORPHA:500
HP:0000795	Abnormality of the urethra	2887	GRB10	ORPHA:96182
HP:0000795	Abnormality of the urethra	51360	MBTPS2	OMIM:308205
HP:0000795	Abnormality of the urethra	2222	FDFT1	OMIM:618156
HP:0000795	Abnormality of the urethra	374879	ZNF699	OMIM:619488
HP:0000795	Abnormality of the urethra	1028	CDKN1C	ORPHA:85173
HP:0000795	Abnormality of the urethra	1028	CDKN1C	OMIM:614732
HP:0000795	Abnormality of the urethra	1028	CDKN1C	ORPHA:397590
HP:0000795	Abnormality of the urethra	22995	CEP152	OMIM:613823
HP:0000795	Abnormality of the urethra	10084	PQBP1	OMIM:309500
HP:0000795	Abnormality of the urethra	6748	SSR4	OMIM:300934
HP:0000795	Abnormality of the urethra	219844	HYLS1	OMIM:236680
HP:0000795	Abnormality of the urethra	9897	WASHC5	ORPHA:7
HP:0000795	Abnormality of the urethra	9897	WASHC5	OMIM:220210
HP:0000795	Abnormality of the urethra	28952	CCDC22	ORPHA:7
HP:0000795	Abnormality of the urethra	55181	SMG8	OMIM:619268
HP:0000795	Abnormality of the urethra	3735	KARS1	OMIM:619147
HP:0000795	Abnormality of the urethra	4713	NDUFB7	OMIM:620135
HP:0000795	Abnormality of the urethra	4702	NDUFA8	OMIM:619272
HP:0000795	Abnormality of the urethra	10128	LRPPRC	OMIM:220111
HP:0000795	Abnormality of the urethra	2294	FOXF1	OMIM:265380
HP:0000795	Abnormality of the urethra	8450	CUL4B	OMIM:300354
HP:0000795	Abnormality of the urethra	6770	STAR	OMIM:201710
HP:0000795	Abnormality of the urethra	23556	PIGN	ORPHA:2059
HP:0000795	Abnormality of the urethra	9839	ZEB2	OMIM:235730
HP:0000795	Abnormality of the urethra	9839	ZEB2	ORPHA:261552
HP:0000795	Abnormality of the urethra	9839	ZEB2	ORPHA:261537
HP:0000795	Abnormality of the urethra	5447	POR	ORPHA:95699
HP:0000795	Abnormality of the urethra	5447	POR	OMIM:201750
HP:0000795	Abnormality of the urethra	170302	ARX	OMIM:300004
HP:0000795	Abnormality of the urethra	170302	ARX	ORPHA:2508
HP:0000795	Abnormality of the urethra	58	ACTA1	ORPHA:171430
HP:0000795	Abnormality of the urethra	131377	KLHL40	ORPHA:171430
HP:0000795	Abnormality of the urethra	10324	KLHL41	ORPHA:171430
HP:0000795	Abnormality of the urethra	56203	LMOD3	ORPHA:171430
HP:0000795	Abnormality of the urethra	22858	CILK1	OMIM:612651
HP:0000795	Abnormality of the urethra	55780	ERMARD	ORPHA:75857
HP:0000795	Abnormality of the urethra	9382	COG1	OMIM:611209
HP:0000795	Abnormality of the urethra	6595	SMARCA2	OMIM:619293
HP:0000795	Abnormality of the urethra	1146	CHRNG	OMIM:265000
HP:0000795	Abnormality of the urethra	57492	ARID1B	OMIM:135900
HP:0000795	Abnormality of the urethra	57492	ARID1B	ORPHA:1465
HP:0000795	Abnormality of the urethra	1136	CHRNA3	OMIM:191800
HP:0000795	Abnormality of the urethra	672	BRCA1	ORPHA:84
HP:0000795	Abnormality of the urethra	10459	MAD2L2	ORPHA:84
HP:0000795	Abnormality of the urethra	7516	XRCC2	ORPHA:84
HP:0000795	Abnormality of the urethra	29089	UBE2T	ORPHA:84
HP:0000795	Abnormality of the urethra	675	BRCA2	ORPHA:84
HP:0000795	Abnormality of the urethra	55120	FANCL	ORPHA:84
HP:0000795	Abnormality of the urethra	2177	FANCD2	ORPHA:84
HP:0000795	Abnormality of the urethra	2175	FANCA	ORPHA:84
HP:0000795	Abnormality of the urethra	2176	FANCC	ORPHA:84
HP:0000795	Abnormality of the urethra	2178	FANCE	ORPHA:84
HP:0000795	Abnormality of the urethra	2188	FANCF	ORPHA:84
HP:0000795	Abnormality of the urethra	2189	FANCG	ORPHA:84
HP:0000795	Abnormality of the urethra	5888	RAD51	ORPHA:84
HP:0000795	Abnormality of the urethra	5889	RAD51C	ORPHA:84
HP:0000795	Abnormality of the urethra	55159	RFWD3	ORPHA:84
HP:0000795	Abnormality of the urethra	83990	BRIP1	ORPHA:84
HP:0000795	Abnormality of the urethra	57697	FANCM	ORPHA:84
HP:0000795	Abnormality of the urethra	79728	PALB2	ORPHA:84
HP:0000795	Abnormality of the urethra	84464	SLX4	ORPHA:84
HP:0000795	Abnormality of the urethra	2072	ERCC4	ORPHA:84
HP:0000795	Abnormality of the urethra	55215	FANCI	ORPHA:84
HP:0000795	Abnormality of the urethra	7080	NKX2-1	ORPHA:209905
HP:0000795	Abnormality of the urethra	222663	SCUBE3	OMIM:619184
HP:0000795	Abnormality of the urethra	55697	VAC14	ORPHA:3472
HP:0000795	Abnormality of the urethra	79813	EHMT1	OMIM:610253
HP:0000795	Abnormality of the urethra	83879	CDCA7	OMIM:616910
HP:0000795	Abnormality of the urethra	53834	FGFRL1	OMIM:194190
HP:0000795	Abnormality of the urethra	5828	PEX2	OMIM:614866
HP:0000795	Abnormality of the urethra	5828	PEX2	ORPHA:912
HP:0000795	Abnormality of the urethra	11128	POLR3A	OMIM:264090
HP:0000795	Abnormality of the urethra	11128	POLR3A	ORPHA:3455
HP:0000795	Abnormality of the urethra	79228	THOC6	ORPHA:363444
HP:0000795	Abnormality of the urethra	57459	GATAD2B	ORPHA:363686
HP:0000795	Abnormality of the urethra	78989	COLEC11	OMIM:265050
HP:0000795	Abnormality of the urethra	5324	PLAG1	ORPHA:397590
HP:0000795	Abnormality of the urethra	8091	HMGA2	ORPHA:397590
HP:0000795	Abnormality of the urethra	9652	SKIC3	OMIM:222470
HP:0000795	Abnormality of the urethra	10661	KLF1	OMIM:613673
HP:0000795	Abnormality of the urethra	546	ATRX	OMIM:309580
HP:0000795	Abnormality of the urethra	546	ATRX	OMIM:301040
HP:0000795	Abnormality of the urethra	701	BUB1B	OMIM:257300
HP:0000795	Abnormality of the urethra	157570	ESCO2	OMIM:268300
HP:0000795	Abnormality of the urethra	157570	ESCO2	ORPHA:2319
HP:0000795	Abnormality of the urethra	5631	PRPS1	OMIM:300661
HP:0000795	Abnormality of the urethra	123016	TTC8	OMIM:615985
HP:0000795	Abnormality of the urethra	7319	UBE2A	ORPHA:163956
HP:0000795	Abnormality of the urethra	55670	PEX26	ORPHA:912
HP:0000795	Abnormality of the urethra	5824	PEX19	ORPHA:912
HP:0000795	Abnormality of the urethra	8504	PEX3	ORPHA:912
HP:0000795	Abnormality of the urethra	8799	PEX11B	ORPHA:912
HP:0000795	Abnormality of the urethra	9409	PEX16	ORPHA:912
HP:0000795	Abnormality of the urethra	5190	PEX6	ORPHA:912
HP:0000795	Abnormality of the urethra	5830	PEX5	ORPHA:912
HP:0000795	Abnormality of the urethra	5193	PEX12	ORPHA:912
HP:0000795	Abnormality of the urethra	5194	PEX13	ORPHA:912
HP:0000795	Abnormality of the urethra	5195	PEX14	ORPHA:912
HP:0000795	Abnormality of the urethra	5192	PEX10	ORPHA:912
HP:0000795	Abnormality of the urethra	10075	HUWE1	OMIM:309590
HP:0000795	Abnormality of the urethra	10159	ATP6AP2	OMIM:301045
HP:0000795	Abnormality of the urethra	10586	MAB21L2	OMIM:615877
HP:0000795	Abnormality of the urethra	55593	OTUD5	OMIM:301056
HP:0000795	Abnormality of the urethra	113179	ADAT3	ORPHA:363528
HP:0000795	Abnormality of the urethra	55209	SETD5	OMIM:615761
HP:0000795	Abnormality of the urethra	55784	MCTP2	ORPHA:1596
HP:0000795	Abnormality of the urethra	8085	KMT2D	ORPHA:2322
HP:0000795	Abnormality of the urethra	7403	KDM6A	ORPHA:2322
HP:0000795	Abnormality of the urethra	998	CDC42	OMIM:616737
HP:0000795	Abnormality of the urethra	998	CDC42	ORPHA:487796
HP:0000795	Abnormality of the urethra	10982	MAPRE2	OMIM:616734
HP:0000795	Abnormality of the urethra	10982	MAPRE2	ORPHA:2505
HP:0000795	Abnormality of the urethra	8831	SYNGAP1	ORPHA:544254
HP:0000795	Abnormality of the urethra	6597	SMARCA4	ORPHA:1465
HP:0000795	Abnormality of the urethra	6598	SMARCB1	ORPHA:1465
HP:0000795	Abnormality of the urethra	6659	SOX4	ORPHA:1465
HP:0000795	Abnormality of the urethra	8289	ARID1A	ORPHA:1465
HP:0000795	Abnormality of the urethra	5977	DPF2	ORPHA:1465
HP:0000795	Abnormality of the urethra	6601	SMARCC2	ORPHA:1465
HP:0000795	Abnormality of the urethra	6602	SMARCD1	ORPHA:1465
HP:0000795	Abnormality of the urethra	196528	ARID2	ORPHA:1465
HP:0000795	Abnormality of the urethra	6605	SMARCE1	ORPHA:1465
HP:0000795	Abnormality of the urethra	6664	SOX11	ORPHA:1465
HP:0000795	Abnormality of the urethra	134701	RIPPLY2	ORPHA:2311
HP:0000795	Abnormality of the urethra	10683	DLL3	ORPHA:2311
HP:0000795	Abnormality of the urethra	3955	LFNG	ORPHA:2311
HP:0000795	Abnormality of the urethra	84667	HES7	ORPHA:2311
HP:0000795	Abnormality of the urethra	145873	MESP2	ORPHA:2311
HP:0000795	Abnormality of the urethra	23028	KDM1A	ORPHA:477993
HP:0000795	Abnormality of the urethra	25	ABL1	OMIM:617602
HP:0000795	Abnormality of the urethra	545	ATR	OMIM:210600
HP:0000795	Abnormality of the urethra	5116	PCNT	OMIM:210720
HP:0000795	Abnormality of the urethra	5723	PSPH	ORPHA:79350
HP:0000795	Abnormality of the urethra	23476	BRD4	ORPHA:199
HP:0000795	Abnormality of the urethra	9126	SMC3	ORPHA:199
HP:0000795	Abnormality of the urethra	8243	SMC1A	ORPHA:199
HP:0000795	Abnormality of the urethra	55869	HDAC8	ORPHA:199
HP:0000795	Abnormality of the urethra	5885	RAD21	ORPHA:199
HP:0000795	Abnormality of the urethra	1589	CYP21A2	OMIM:201910
HP:0000795	Abnormality of the urethra	25914	RTTN	ORPHA:468631
HP:0000795	Abnormality of the urethra	4796	TONSL	ORPHA:93357
HP:0000795	Abnormality of the urethra	202018	TAPT1	OMIM:616897
HP:0000795	Abnormality of the urethra	3110	MNX1	ORPHA:1552
HP:0000795	Abnormality of the urethra	4047	LSS	OMIM:618840
HP:0000795	Abnormality of the urethra	5879	RAC1	OMIM:617751
HP:0000795	Abnormality of the urethra	5879	RAC1	ORPHA:500159
HP:0000795	Abnormality of the urethra	51780	KDM3B	OMIM:618846
HP:0000795	Abnormality of the urethra	4724	NDUFS4	OMIM:252010
HP:0000795	Abnormality of the urethra	4000	LMNA	ORPHA:1662
HP:0000795	Abnormality of the urethra	10269	ZMPSTE24	ORPHA:1662
HP:0000795	Abnormality of the urethra	10269	ZMPSTE24	OMIM:275210
HP:0000795	Abnormality of the urethra	5718	PSMD12	OMIM:617516
HP:0000795	Abnormality of the urethra	5573	PRKAR1A	ORPHA:280651
HP:0000795	Abnormality of the urethra	1468	SLC25A10	OMIM:618972
HP:0000795	Abnormality of the urethra	203068	TUBB	ORPHA:2505
HP:0000795	Abnormality of the urethra	5604	MAP2K1	OMIM:163950
HP:0000795	Abnormality of the urethra	3284	HSD3B2	OMIM:201810
HP:0000795	Abnormality of the urethra	6716	SRD5A2	OMIM:264600
HP:0000795	Abnormality of the urethra	6716	SRD5A2	ORPHA:753
HP:0000795	Abnormality of the urethra	2626	GATA4	OMIM:615542
HP:0000795	Abnormality of the urethra	131118	DNAJC19	ORPHA:66634
HP:0000795	Abnormality of the urethra	8626	TP63	ORPHA:1896
HP:0000795	Abnormality of the urethra	84314	TMEM107	ORPHA:564
HP:0000795	Abnormality of the urethra	26123	TCTN3	ORPHA:564
HP:0000795	Abnormality of the urethra	79867	TCTN2	ORPHA:564
HP:0000795	Abnormality of the urethra	80776	B9D2	ORPHA:564
HP:0000795	Abnormality of the urethra	79600	TCTN1	ORPHA:564
HP:0000795	Abnormality of the urethra	57096	RPGRIP1	ORPHA:564
HP:0000795	Abnormality of the urethra	79848	CSPP1	ORPHA:564
HP:0000795	Abnormality of the urethra	80184	CEP290	ORPHA:564
HP:0000795	Abnormality of the urethra	51259	TMEM216	ORPHA:564
HP:0000795	Abnormality of the urethra	57545	CC2D2A	ORPHA:564
HP:0000795	Abnormality of the urethra	79583	TMEM231	ORPHA:564
HP:0000795	Abnormality of the urethra	91147	TMEM67	ORPHA:564
HP:0000795	Abnormality of the urethra	79770	TXNDC15	ORPHA:564
HP:0000795	Abnormality of the urethra	27077	B9D1	ORPHA:564
HP:0000795	Abnormality of the urethra	23322	RPGRIP1L	ORPHA:564
HP:0000795	Abnormality of the urethra	54903	MKS1	ORPHA:564
HP:0000795	Abnormality of the urethra	65062	TMEM237	ORPHA:564
HP:0000795	Abnormality of the urethra	2187	FANCB	OMIM:314390
HP:0000795	Abnormality of the urethra	7547	ZIC3	OMIM:314390
HP:0000795	Abnormality of the urethra	341640	FREM2	ORPHA:2052
HP:0000795	Abnormality of the urethra	80144	FRAS1	ORPHA:2052
HP:0000795	Abnormality of the urethra	23426	GRIP1	ORPHA:2052
HP:0000795	Abnormality of the urethra	7473	WNT3	OMIM:273395
HP:0000795	Abnormality of the urethra	3293	HSD17B3	ORPHA:752
HP:0000795	Abnormality of the urethra	3106	HLA-B	ORPHA:36426
HP:0000795	Abnormality of the urethra	10320	IKZF1	ORPHA:36426
HP:0000795	Abnormality of the urethra	3209	HOXA13	ORPHA:2438
HP:0000795	Abnormality of the urethra	3239	HOXD13	ORPHA:887
HP:0000795	Abnormality of the urethra	9860	LRIG2	ORPHA:2704
HP:0000795	Abnormality of the urethra	60495	HPSE2	ORPHA:2704
HP:0000795	Abnormality of the urethra	60495	HPSE2	OMIM:236730
HP:0000795	Abnormality of the urethra	389827	MYMK	ORPHA:1358
HP:0000795	Abnormality of the urethra	101929726	MYMX	ORPHA:1358
HP:0000795	Abnormality of the urethra	745	MYRF	OMIM:618280
HP:0000795	Abnormality of the urethra	1717	DHCR7	OMIM:270400
HP:0000795	Abnormality of the urethra	2516	NR5A1	OMIM:617480
HP:0000795	Abnormality of the urethra	2516	NR5A1	OMIM:612965
HP:0000795	Abnormality of the urethra	372	ARCN1	OMIM:617164
HP:0000795	Abnormality of the urethra	10584	COLEC10	OMIM:248340
HP:0000795	Abnormality of the urethra	1009	CDH11	ORPHA:1299
HP:0000795	Abnormality of the urethra	1009	CDH11	OMIM:211380
HP:0000795	Abnormality of the urethra	57724	EPG5	OMIM:242840
HP:0000795	Abnormality of the urethra	4534	MTM1	ORPHA:456328
HP:0000795	Abnormality of the urethra	54453	RIN2	OMIM:613075
HP:0000795	Abnormality of the urethra	6804	STX1A	ORPHA:904
HP:0000795	Abnormality of the urethra	7461	CLIP2	ORPHA:904
HP:0000795	Abnormality of the urethra	84277	DNAJC30	ORPHA:904
HP:0000795	Abnormality of the urethra	8468	FKBP6	ORPHA:904
HP:0000795	Abnormality of the urethra	5982	RFC2	ORPHA:904
HP:0000795	Abnormality of the urethra	2969	GTF2I	ORPHA:904
HP:0000795	Abnormality of the urethra	3984	LIMK1	ORPHA:904
HP:0000795	Abnormality of the urethra	9569	GTF2IRD1	ORPHA:904
HP:0000795	Abnormality of the urethra	155382	VPS37D	ORPHA:904
HP:0000795	Abnormality of the urethra	155368	METTL27	ORPHA:904
HP:0000795	Abnormality of the urethra	114049	BUD23	ORPHA:904
HP:0000795	Abnormality of the urethra	7458	EIF4H	ORPHA:904
HP:0000795	Abnormality of the urethra	84163	GTF2IRD2	ORPHA:904
HP:0000795	Abnormality of the urethra	9275	BCL7B	ORPHA:904
HP:0000795	Abnormality of the urethra	26608	TBL2	ORPHA:904
HP:0000795	Abnormality of the urethra	653361	NCF1	ORPHA:904
HP:0000795	Abnormality of the urethra	135886	TMEM270	ORPHA:904
HP:0000795	Abnormality of the urethra	51085	MLXIPL	ORPHA:904
HP:0000795	Abnormality of the urethra	51085	MLXIPL	OMIM:194050
HP:0000795	Abnormality of the urethra	9031	BAZ1B	ORPHA:904
HP:0000795	Abnormality of the urethra	2006	ELN	ORPHA:904
HP:0000795	Abnormality of the urethra	2006	ELN	OMIM:194050
HP:0000795	Abnormality of the urethra	6885	MAP3K7	ORPHA:1826
HP:0000795	Abnormality of the urethra	2737	GLI3	OMIM:146510
HP:0000795	Abnormality of the urethra	197131	UBR1	OMIM:243800
HP:0000795	Abnormality of the urethra	55112	DYNC2I1	ORPHA:93271
HP:0000795	Abnormality of the urethra	57560	IFT80	ORPHA:93271
HP:0000795	Abnormality of the urethra	57539	WDR35	ORPHA:93271
HP:0000795	Abnormality of the urethra	79659	DYNC2H1	ORPHA:93271
HP:0000795	Abnormality of the urethra	89891	DYNC2I2	ORPHA:93271
HP:0000795	Abnormality of the urethra	5337	PLD1	OMIM:212093
HP:0000795	Abnormality of the urethra	4052	LTBP1	ORPHA:90349
HP:0000795	Abnormality of the urethra	30008	EFEMP2	ORPHA:90349
HP:0000795	Abnormality of the urethra	10516	FBLN5	ORPHA:90349
HP:0000795	Abnormality of the urethra	10606	PAICS	OMIM:619859
HP:0000795	Abnormality of the urethra	2263	FGFR2	OMIM:149730
HP:0000795	Abnormality of the urethra	50945	TBX22	ORPHA:921
HP:0000795	Abnormality of the urethra	6299	SALL1	OMIM:107480
HP:0000795	Abnormality of the urethra	6299	SALL1	ORPHA:857
HP:0000795	Abnormality of the urethra	51339	DACT1	ORPHA:857
HP:0000795	Abnormality of the urethra	3187	HNRNPH1	OMIM:620083
HP:0000795	Abnormality of the urethra	54796	BNC2	OMIM:618612
HP:0000795	Abnormality of the urethra	54796	BNC2	ORPHA:93110
HP:0000795	Abnormality of the urethra	10847	SRCAP	ORPHA:2044
HP:0000795	Abnormality of the urethra	10847	SRCAP	OMIM:136140
HP:0000795	Abnormality of the urethra	4281	MID1	OMIM:300000
HP:0000795	Abnormality of the urethra	1131	CHRM3	ORPHA:2970
HP:0000795	Abnormality of the urethra	1131	CHRM3	OMIM:100100
HP:0000795	Abnormality of the urethra	3481	IGF2	OMIM:180860
HP:0000795	Abnormality of the urethra	64324	NSD1	ORPHA:821
HP:0000795	Abnormality of the urethra	29072	SETD2	ORPHA:821
HP:0000795	Abnormality of the urethra	10297	APC2	ORPHA:821
HP:0000795	Abnormality of the urethra	3655	ITGA6	ORPHA:79403
HP:0000795	Abnormality of the urethra	3909	LAMA3	ORPHA:79404
HP:0000795	Abnormality of the urethra	3918	LAMC2	ORPHA:79404
HP:0000795	Abnormality of the urethra	3914	LAMB3	ORPHA:79404
HP:0000795	Abnormality of the urethra	4312	MMP1	ORPHA:79408
HP:0000795	Abnormality of the urethra	1294	COL7A1	ORPHA:79408
HP:0000795	Abnormality of the urethra	1294	COL7A1	ORPHA:79409
HP:0000795	Abnormality of the urethra	5422	POLA1	OMIM:301220
HP:0000795	Abnormality of the urethra	5317	PKP1	ORPHA:158668
HP:0000795	Abnormality of the urethra	55612	FERMT1	ORPHA:2908
HP:0000795	Abnormality of the urethra	7750	ZMYM2	OMIM:619522
HP:0000795	Abnormality of the urethra	2324	FLT4	OMIM:153100
HP:0000795	Abnormality of the urethra	8318	CDC45	OMIM:617063
HP:0000795	Abnormality of the urethra	26277	TINF2	OMIM:613990
HP:0000795	Abnormality of the urethra	8195	MKKS	ORPHA:2473
HP:0000795	Abnormality of the urethra	7015	TERT	OMIM:613989
HP:0000795	Abnormality of the urethra	1528	CYB5A	OMIM:250790
HP:0000795	Abnormality of the urethra	1583	CYP11A1	ORPHA:289548
HP:0000795	Abnormality of the urethra	1583	CYP11A1	ORPHA:168558
HP:0000795	Abnormality of the urethra	81857	MED25	ORPHA:464738
HP:0000795	Abnormality of the urethra	25942	SIN3A	OMIM:613406
HP:0000795	Abnormality of the urethra	161742	SPRED1	ORPHA:137605
HP:0000795	Abnormality of the urethra	5792	PTPRF	OMIM:616001
HP:0000795	Abnormality of the urethra	5339	PLEC	OMIM:226730
HP:0000795	Abnormality of the urethra	3691	ITGB4	OMIM:226730
HP:0000795	Abnormality of the urethra	80169	CTC1	ORPHA:1775
HP:0000795	Abnormality of the urethra	55651	NHP2	ORPHA:1775
HP:0000795	Abnormality of the urethra	79650	USB1	ORPHA:1775
HP:0000795	Abnormality of the urethra	55135	WRAP53	ORPHA:1775
HP:0000795	Abnormality of the urethra	51750	RTEL1	ORPHA:1775
HP:0000795	Abnormality of the urethra	4869	NPM1	ORPHA:1775
HP:0000795	Abnormality of the urethra	7012	TERC	ORPHA:1775
HP:0000795	Abnormality of the urethra	55505	NOP10	ORPHA:1775
HP:0000795	Abnormality of the urethra	5073	PARN	ORPHA:1775
HP:0000795	Abnormality of the urethra	1736	DKC1	ORPHA:1775
HP:0000795	Abnormality of the urethra	7298	TYMS	ORPHA:1775
HP:0000795	Abnormality of the urethra	5080	PAX6	ORPHA:893
HP:0000795	Abnormality of the urethra	627	BDNF	ORPHA:893
HP:0000795	Abnormality of the urethra	7490	WT1	ORPHA:893
HP:0000795	Abnormality of the urethra	79827	CLMP	ORPHA:2301
HP:0000795	Abnormality of the urethra	2316	FLNA	ORPHA:2301
HP:0000795	Abnormality of the urethra	10908	PNPLA6	ORPHA:2377
HP:0000795	Abnormality of the urethra	10046	MAMLD1	ORPHA:95706
HP:0000795	Abnormality of the urethra	367	AR	ORPHA:95706
HP:0000795	Abnormality of the urethra	6899	TBX1	ORPHA:1727
HP:0000795	Abnormality of the urethra	2767	GNA11	ORPHA:1556
HP:0000795	Abnormality of the urethra	151188	ARL6IP6	ORPHA:1556
HP:0000795	Abnormality of the urethra	7026	NR2F2	OMIM:618901
HP:0000795	Abnormality of the urethra	6662	SOX9	ORPHA:2138
HP:0000795	Abnormality of the urethra	6662	SOX9	ORPHA:251510
HP:0000795	Abnormality of the urethra	4659	PPP1R12A	OMIM:618820
HP:0000795	Abnormality of the urethra	57647	DHX37	OMIM:273250
HP:0000795	Abnormality of the urethra	57647	DHX37	ORPHA:251510
HP:0000795	Abnormality of the urethra	6845	VAMP7	ORPHA:251510
HP:0000795	Abnormality of the urethra	51741	WWOX	ORPHA:251510
HP:0000795	Abnormality of the urethra	4214	MAP3K1	ORPHA:251510
HP:0000795	Abnormality of the urethra	58524	DMRT3	ORPHA:251510
HP:0000795	Abnormality of the urethra	23414	ZFPM2	ORPHA:251510
HP:0000795	Abnormality of the urethra	190	NR0B1	ORPHA:251510
HP:0000796	Urethral obstruction	9860	LRIG2	ORPHA:2704
HP:0000796	Urethral obstruction	54453	RIN2	OMIM:613075
HP:0000796	Urethral obstruction	26277	TINF2	OMIM:613990
HP:0000796	Urethral obstruction	26277	TINF2	ORPHA:1775
HP:0000796	Urethral obstruction	80169	CTC1	ORPHA:1775
HP:0000796	Urethral obstruction	55651	NHP2	ORPHA:1775
HP:0000796	Urethral obstruction	79650	USB1	ORPHA:1775
HP:0000796	Urethral obstruction	55135	WRAP53	ORPHA:1775
HP:0000796	Urethral obstruction	51750	RTEL1	ORPHA:1775
HP:0000796	Urethral obstruction	4869	NPM1	ORPHA:1775
HP:0000796	Urethral obstruction	7012	TERC	ORPHA:1775
HP:0000796	Urethral obstruction	55505	NOP10	ORPHA:1775
HP:0000796	Urethral obstruction	5073	PARN	ORPHA:1775
HP:0000796	Urethral obstruction	7015	TERT	ORPHA:1775
HP:0000796	Urethral obstruction	1736	DKC1	ORPHA:1775
HP:0000796	Urethral obstruction	1736	DKC1	OMIM:305000
HP:0000796	Urethral obstruction	7298	TYMS	ORPHA:1775
HP:0000796	Urethral obstruction	3691	ITGB4	OMIM:619816
HP:0000796	Urethral obstruction	55612	FERMT1	OMIM:173650
HP:0000796	Urethral obstruction	6804	STX1A	ORPHA:904
HP:0000796	Urethral obstruction	7461	CLIP2	ORPHA:904
HP:0000796	Urethral obstruction	84277	DNAJC30	ORPHA:904
HP:0000796	Urethral obstruction	8468	FKBP6	ORPHA:904
HP:0000796	Urethral obstruction	5982	RFC2	ORPHA:904
HP:0000796	Urethral obstruction	2969	GTF2I	ORPHA:904
HP:0000796	Urethral obstruction	3984	LIMK1	ORPHA:904
HP:0000796	Urethral obstruction	9569	GTF2IRD1	ORPHA:904
HP:0000796	Urethral obstruction	155382	VPS37D	ORPHA:904
HP:0000796	Urethral obstruction	155368	METTL27	ORPHA:904
HP:0000796	Urethral obstruction	114049	BUD23	ORPHA:904
HP:0000796	Urethral obstruction	7458	EIF4H	ORPHA:904
HP:0000796	Urethral obstruction	84163	GTF2IRD2	ORPHA:904
HP:0000796	Urethral obstruction	9275	BCL7B	ORPHA:904
HP:0000796	Urethral obstruction	26608	TBL2	ORPHA:904
HP:0000796	Urethral obstruction	653361	NCF1	ORPHA:904
HP:0000796	Urethral obstruction	135886	TMEM270	ORPHA:904
HP:0000796	Urethral obstruction	51085	MLXIPL	ORPHA:904
HP:0000796	Urethral obstruction	51085	MLXIPL	OMIM:194050
HP:0000796	Urethral obstruction	9031	BAZ1B	ORPHA:904
HP:0000796	Urethral obstruction	2006	ELN	ORPHA:904
HP:0000796	Urethral obstruction	2006	ELN	OMIM:194050
HP:0000796	Urethral obstruction	2316	FLNA	ORPHA:1826
HP:0000796	Urethral obstruction	6885	MAP3K7	ORPHA:1826
HP:0000796	Urethral obstruction	6899	TBX1	ORPHA:1727
HP:0000796	Urethral obstruction	8626	TP63	OMIM:604292
HP:0000796	Urethral obstruction	6299	SALL1	OMIM:107480
HP:0000796	Urethral obstruction	6299	SALL1	ORPHA:857
HP:0000796	Urethral obstruction	51339	DACT1	ORPHA:857
HP:0000796	Urethral obstruction	60495	HPSE2	OMIM:236730
HP:0000796	Urethral obstruction	3481	IGF2	OMIM:180860
HP:0000796	Urethral obstruction	3187	HNRNPH1	OMIM:620083
HP:0000796	Urethral obstruction	54796	BNC2	OMIM:618612
HP:0000796	Urethral obstruction	54796	BNC2	ORPHA:93110
HP:0000796	Urethral obstruction	10847	SRCAP	ORPHA:2044
HP:0000796	Urethral obstruction	10847	SRCAP	OMIM:136140
HP:0000796	Urethral obstruction	4281	MID1	OMIM:300000
HP:0000796	Urethral obstruction	1131	CHRM3	ORPHA:2970
HP:0000796	Urethral obstruction	1131	CHRM3	OMIM:100100
HP:0000796	Urethral obstruction	64324	NSD1	ORPHA:821
HP:0000796	Urethral obstruction	29072	SETD2	ORPHA:821
HP:0000796	Urethral obstruction	10297	APC2	ORPHA:821
HP:0000796	Urethral obstruction	3655	ITGA6	ORPHA:79403
HP:0000796	Urethral obstruction	3909	LAMA3	ORPHA:79404
HP:0000796	Urethral obstruction	3918	LAMC2	ORPHA:79404
HP:0000796	Urethral obstruction	3914	LAMB3	ORPHA:79404
HP:0000796	Urethral obstruction	4312	MMP1	ORPHA:79408
HP:0000796	Urethral obstruction	1294	COL7A1	ORPHA:79408
HP:0000796	Urethral obstruction	1294	COL7A1	ORPHA:79409
HP:0000796	Urethral obstruction	5422	POLA1	OMIM:301220
HP:0000796	Urethral obstruction	5317	PKP1	ORPHA:158668
HP:0000796	Urethral obstruction	7750	ZMYM2	OMIM:619522
HP:0000796	Urethral obstruction	2324	FLT4	OMIM:153100
HP:0000796	Urethral obstruction	8318	CDC45	OMIM:617063
HP:0000796	Urethral obstruction	8195	MKKS	ORPHA:2473
HP:0000796	Urethral obstruction	81857	MED25	ORPHA:464738
HP:0000796	Urethral obstruction	25942	SIN3A	OMIM:613406
HP:0000796	Urethral obstruction	161742	SPRED1	ORPHA:137605
HP:0000796	Urethral obstruction	5792	PTPRF	OMIM:616001
HP:0000796	Urethral obstruction	5339	PLEC	OMIM:226730
HP:0000798	Oligospermia	91057	CCDC34	OMIM:620084
HP:0000798	Oligospermia	10149	ADGRG2	ORPHA:48
HP:0000798	Oligospermia	1080	CFTR	ORPHA:48
HP:0000798	Oligospermia	7840	ALMS1	ORPHA:64
HP:0000798	Oligospermia	286151	FBXO43	OMIM:619696
HP:0000798	Oligospermia	255101	CFAP65	OMIM:618664
HP:0000798	Oligospermia	8632	DNAH17	OMIM:618643
HP:0000798	Oligospermia	140732	SUN5	ORPHA:529970
HP:0000798	Oligospermia	83449	PMFBP1	ORPHA:529970
HP:0000798	Oligospermia	89876	CFAP91	OMIM:619177
HP:0000798	Oligospermia	124404	SEPTIN12	OMIM:614822
HP:0000798	Oligospermia	144132	DNHD1	OMIM:619712
HP:0000798	Oligospermia	196385	DNAH10	OMIM:619515
HP:0000798	Oligospermia	3973	LHCGR	ORPHA:3000
HP:0000798	Oligospermia	8468	FKBP6	OMIM:620103
HP:0000798	Oligospermia	92749	DRC1	OMIM:620222
HP:0000798	Oligospermia	4438	MSH4	OMIM:108420
HP:0000798	Oligospermia	2908	NR3C1	ORPHA:786
HP:0000798	Oligospermia	7258	TSPY1	ORPHA:1646
HP:0000798	Oligospermia	57055	DAZ2	ORPHA:1646
HP:0000798	Oligospermia	57135	DAZ4	ORPHA:1646
HP:0000798	Oligospermia	8287	USP9Y	ORPHA:1646
HP:0000798	Oligospermia	5940	RBMY1A1	ORPHA:1646
HP:0000798	Oligospermia	57054	DAZ3	ORPHA:1646
HP:0000798	Oligospermia	8653	DDX3Y	ORPHA:1646
HP:0000798	Oligospermia	1617	DAZ1	ORPHA:1646
HP:0000798	Oligospermia	5447	POR	ORPHA:95699
HP:0000798	Oligospermia	641	BLM	ORPHA:125
HP:0000798	Oligospermia	286464	CFAP47	OMIM:301059
HP:0000798	Oligospermia	317719	KLHL10	OMIM:615081
HP:0000798	Oligospermia	7555	CNBP	OMIM:602668
HP:0000798	Oligospermia	190	NR0B1	OMIM:300200
HP:0000798	Oligospermia	22873	DZIP1	OMIM:619102
HP:0000798	Oligospermia	2488	FSHB	ORPHA:52901
HP:0000798	Oligospermia	84071	ARMC2	OMIM:618433
HP:0000798	Oligospermia	118491	CFAP70	OMIM:618670
HP:0000798	Oligospermia	80173	IFT74	OMIM:619585
HP:0000798	Oligospermia	5161	PDHA2	OMIM:619828
HP:0000798	Oligospermia	140801	RPL10L	OMIM:619689
HP:0000798	Oligospermia	84984	CEP19	OMIM:615703
HP:0000798	Oligospermia	84168	ANTXR1	ORPHA:2067
HP:0000798	Oligospermia	117155	CATSPER2	OMIM:612997
HP:0000798	Oligospermia	161497	STRC	OMIM:612997
HP:0000798	Oligospermia	117144	CATSPER1	OMIM:612997
HP:0000798	Oligospermia	130951	M1AP	OMIM:619108
HP:0000798	Oligospermia	25886	POC1A	OMIM:614813
HP:0000798	Oligospermia	5573	PRKAR1A	ORPHA:1359
HP:0000798	Oligospermia	50940	PDE11A	ORPHA:1359
HP:0000798	Oligospermia	157855	KCNU1	OMIM:620196
HP:0000798	Oligospermia	10388	SYCP2	OMIM:258150
HP:0000798	Oligospermia	375307	CATIP	OMIM:619379
HP:0000798	Oligospermia	254528	MEIOB	OMIM:617706
HP:0000798	Oligospermia	2516	NR5A1	OMIM:613957
HP:0000798	Oligospermia	56154	TEX15	OMIM:617960
HP:0000798	Oligospermia	122402	TDRD9	OMIM:618110
HP:0000799	Renal steatosis	3949	LDLR	ORPHA:391665
HP:0000799	Renal steatosis	255738	PCSK9	ORPHA:391665
HP:0000799	Renal steatosis	26119	LDLRAP1	ORPHA:391665
HP:0000799	Renal steatosis	338	APOB	ORPHA:391665
HP:0000799	Renal steatosis	64240	ABCG5	ORPHA:391665
HP:0000799	Renal steatosis	64241	ABCG8	ORPHA:391665
HP:0000799	Renal steatosis	5105	PCK1	OMIM:261680
HP:0000799	Renal steatosis	2138	EYA1	OMIM:113650
HP:0000799	Renal steatosis	6495	SIX1	OMIM:113650
HP:0000799	Renal steatosis	348	APOE	ORPHA:412
HP:0000799	Renal steatosis	5106	PCK2	OMIM:261650
HP:0033806	Abnormal epidermis stratum granulosum morphology	2312	FLG	OMIM:146700
HP:0033808	Spermatocele	9075	CLDN2	OMIM:301060
HP:0033807	Absent keratohyalin granules	2312	FLG	OMIM:146700
HP:0033809	Increased circulating 17 hydroxypregnenolone concentration	3284	HSD3B2	OMIM:201810
HP:0007958	Optic atrophy from cranial nerve compression	10312	TCIRG1	ORPHA:210110
HP:0007958	Optic atrophy from cranial nerve compression	1186	CLCN7	ORPHA:210110
HP:0007958	Optic atrophy from cranial nerve compression	9842	PLEKHM1	ORPHA:210110
HP:0007950	Peripapillary chorioretinal atrophy	4901	NRL	OMIM:613750
HP:0007950	Peripapillary chorioretinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	3075	CFH	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	3426	CFI	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	7003	TEAD1	OMIM:108985
HP:0033810	Decreased circulating dihydrotestosterone concentration	3972	LHB	OMIM:228300
HP:0033811	Abnormal circulating androstenedione concentration	2908	NR3C1	OMIM:615962
HP:0033811	Abnormal circulating androstenedione concentration	54361	WNT4	OMIM:158330
HP:0033811	Abnormal circulating androstenedione concentration	3284	HSD3B2	ORPHA:90791
HP:0033811	Abnormal circulating androstenedione concentration	1584	CYP11B1	OMIM:202010
HP:0033811	Abnormal circulating androstenedione concentration	1584	CYP11B1	ORPHA:90795
HP:0033811	Abnormal circulating androstenedione concentration	84133	ZNRF3	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	7157	TP53	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	5573	PRKAR1A	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	1499	CTNNB1	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	1029	CDKN2A	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	7015	TERT	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	5447	POR	OMIM:201750
HP:0033812	Decreased circulating androstenedione concentration	5447	POR	OMIM:201750
HP:0007962	Speckled corneal dystrophy	200576	PIKFYVE	OMIM:121850
HP:0007963	Pattern dystrophy of the retina	5961	PRPH2	OMIM:169150
HP:0007963	Pattern dystrophy of the retina	1495	CTNNA1	OMIM:608970
HP:0007964	Degenerative vitreoretinopathy	1280	COL2A1	ORPHA:485
HP:0007964	Degenerative vitreoretinopathy	1297	COL9A1	OMIM:614134
HP:0007964	Degenerative vitreoretinopathy	2065	ERBB3	OMIM:607598
HP:0007964	Degenerative vitreoretinopathy	1302	COL11A2	ORPHA:1427
HP:0007965	Undetectable visual evoked potentials	51109	RDH11	ORPHA:436245
HP:0007965	Undetectable visual evoked potentials	25782	RAB3GAP2	OMIM:614225
HP:0007965	Undetectable visual evoked potentials	4724	NDUFS4	OMIM:252010
HP:0007965	Undetectable visual evoked potentials	1340	COX6B1	OMIM:619051
HP:0007965	Undetectable visual evoked potentials	5631	PRPS1	ORPHA:423479
HP:0007965	Undetectable visual evoked potentials	57107	PDSS2	ORPHA:255249
HP:0007965	Undetectable visual evoked potentials	27235	COQ2	ORPHA:255249
HP:0007965	Undetectable visual evoked potentials	478	ATP1A3	OMIM:601338
HP:0007965	Undetectable visual evoked potentials	9326	ZNHIT3	OMIM:260565
HP:0007965	Undetectable visual evoked potentials	9526	MPDU1	ORPHA:79323
HP:0007965	Undetectable visual evoked potentials	28962	OSTM1	OMIM:259720
HP:0007968	Remnants of the hyaloid vascular system	54880	BCOR	OMIM:300166
HP:0007968	Remnants of the hyaloid vascular system	57479	PRR12	OMIM:619539
HP:0007968	Remnants of the hyaloid vascular system	729920	CRPPA	OMIM:614643
HP:0007968	Remnants of the hyaloid vascular system	5080	PAX6	OMIM:165550
HP:0007968	Remnants of the hyaloid vascular system	5080	PAX6	OMIM:120200
HP:0007968	Remnants of the hyaloid vascular system	4771	NF2	ORPHA:637
HP:0007968	Remnants of the hyaloid vascular system	3913	LAMB2	OMIM:609049
HP:0007968	Remnants of the hyaloid vascular system	57688	ZSWIM6	OMIM:603671
HP:0007968	Remnants of the hyaloid vascular system	6496	SIX3	OMIM:157170
HP:0007968	Remnants of the hyaloid vascular system	23137	SMC5	OMIM:620185
HP:0007968	Remnants of the hyaloid vascular system	4693	NDP	ORPHA:91495
HP:0007968	Remnants of the hyaloid vascular system	220202	ATOH7	ORPHA:91495
HP:0007968	Remnants of the hyaloid vascular system	8322	FZD4	ORPHA:91495
HP:0033822	Mass on thoracic imaging	23095	KIF1B	OMIM:256700
HP:0033823	Mediastinal mass	23095	KIF1B	OMIM:256700
HP:0007970	Congenital ptosis	3479	IGF1	ORPHA:73272
HP:0007970	Congenital ptosis	84570	COL25A1	ORPHA:91411
HP:0007970	Congenital ptosis	1763	DNA2	ORPHA:352470
HP:0007970	Congenital ptosis	79184	BRCC3	ORPHA:280679
HP:0007970	Congenital ptosis	79776	ZFHX4	OMIM:178300
HP:0007970	Congenital ptosis	7204	TRIO	ORPHA:476126
HP:0007971	Lamellar cataract	3299	HSF4	OMIM:116800
HP:0007971	Lamellar cataract	1413	CRYBA4	OMIM:610425
HP:0007971	Lamellar cataract	1427	CRYGS	OMIM:116100
HP:0007971	Lamellar cataract	1419	CRYGB	OMIM:615188
HP:0007971	Lamellar cataract	631	BFSP1	OMIM:611391
HP:0007971	Lamellar cataract	4284	MIP	OMIM:615274
HP:0007975	Hypometric horizontal saccades	2629	GBA1	OMIM:231005
HP:0007976	Cerulean cataract	84816	RTN4IP1	OMIM:616732
HP:0007976	Cerulean cataract	4094	MAF	OMIM:610202
HP:0007976	Cerulean cataract	1415	CRYBB2	OMIM:601547
HP:0007976	Cerulean cataract	80207	OPA3	ORPHA:67036
HP:0033832	Livedo	51816	ADA2	OMIM:615688
HP:0033832	Livedo	51816	ADA2	OMIM:182410
HP:0033832	Livedo	23590	PDSS1	OMIM:614651
HP:0033832	Livedo	340061	STING1	OMIM:615934
HP:0033832	Livedo	4629	MYH11	OMIM:132900
HP:0033832	Livedo	59	ACTA2	OMIM:611788
HP:0033832	Livedo	2982	GUCY1A1	OMIM:615750
HP:0033832	Livedo	545	ATR	OMIM:614564
HP:0033832	Livedo	5426	POLE	OMIM:618336
HP:0033832	Livedo	5426	POLE	OMIM:615139
HP:0033834	Malaise	540	ATP7B	OMIM:277900
HP:0033834	Malaise	1991	ELANE	OMIM:162800
HP:0033835	Abnormal renal vascular morphology	3949	LDLR	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	255738	PCSK9	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	26119	LDLRAP1	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	338	APOB	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	64240	ABCG5	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	64241	ABCG8	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	55249	YY1AP1	OMIM:602531
HP:0033835	Abnormal renal vascular morphology	4763	NF1	OMIM:162200
HP:0033835	Abnormal renal vascular morphology	4763	NF1	ORPHA:97685
HP:0033835	Abnormal renal vascular morphology	6772	STAT1	ORPHA:391487
HP:0033835	Abnormal renal vascular morphology	10043	TOM1	ORPHA:391487
HP:0033835	Abnormal renal vascular morphology	9896	FIG4	ORPHA:3472
HP:0033835	Abnormal renal vascular morphology	55697	VAC14	ORPHA:3472
HP:0033835	Abnormal renal vascular morphology	5167	ENPP1	OMIM:208000
HP:0033835	Abnormal renal vascular morphology	55654	TMEM127	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	5979	RET	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	6390	SDHB	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	6392	SDHD	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	4149	MAX	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	7428	VHL	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	50628	GEMIN4	OMIM:617913
HP:0033835	Abnormal renal vascular morphology	182	JAG1	OMIM:118450
HP:0033835	Abnormal renal vascular morphology	51085	MLXIPL	OMIM:194050
HP:0033835	Abnormal renal vascular morphology	2006	ELN	OMIM:194050
HP:0033835	Abnormal renal vascular morphology	5456	POU3F4	ORPHA:1435
HP:0033835	Abnormal renal vascular morphology	79796	ALG9	ORPHA:79328
HP:0033835	Abnormal renal vascular morphology	57104	PNPLA2	ORPHA:565612
HP:0033835	Abnormal renal vascular morphology	51816	ADA2	OMIM:615688
HP:0033835	Abnormal renal vascular morphology	57728	WDR19	OMIM:614377
HP:0033836	Abnormal intrarenal artery morphology	3949	LDLR	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	255738	PCSK9	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	338	APOB	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	64240	ABCG5	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	64241	ABCG8	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	55249	YY1AP1	OMIM:602531
HP:0033836	Abnormal intrarenal artery morphology	4763	NF1	OMIM:162200
HP:0033836	Abnormal intrarenal artery morphology	4763	NF1	ORPHA:97685
HP:0033836	Abnormal intrarenal artery morphology	6772	STAT1	ORPHA:391487
HP:0033836	Abnormal intrarenal artery morphology	10043	TOM1	ORPHA:391487
HP:0033836	Abnormal intrarenal artery morphology	9896	FIG4	ORPHA:3472
HP:0033836	Abnormal intrarenal artery morphology	55697	VAC14	ORPHA:3472
HP:0033836	Abnormal intrarenal artery morphology	5167	ENPP1	OMIM:208000
HP:0033836	Abnormal intrarenal artery morphology	55654	TMEM127	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	5979	RET	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	6390	SDHB	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	6392	SDHD	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	4149	MAX	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	7428	VHL	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	50628	GEMIN4	OMIM:617913
HP:0033836	Abnormal intrarenal artery morphology	182	JAG1	OMIM:118450
HP:0033836	Abnormal intrarenal artery morphology	51085	MLXIPL	OMIM:194050
HP:0033836	Abnormal intrarenal artery morphology	2006	ELN	OMIM:194050
HP:0033836	Abnormal intrarenal artery morphology	5456	POU3F4	ORPHA:1435
HP:0033836	Abnormal intrarenal artery morphology	79796	ALG9	ORPHA:79328
HP:0033836	Abnormal intrarenal artery morphology	57104	PNPLA2	ORPHA:565612
HP:0033836	Abnormal intrarenal artery morphology	51816	ADA2	OMIM:615688
HP:0033838	Dysphoria	10079	ATP9A	OMIM:620242
HP:0007989	Intraretinal exudate	4693	NDP	OMIM:305390
HP:0007980	Absent retinal pigment epithelium	2677	GGCX	ORPHA:436274
HP:0007980	Absent retinal pigment epithelium	5961	PRPH2	ORPHA:75377
HP:0007980	Absent retinal pigment epithelium	3000	GUCY2D	ORPHA:75377
HP:0007980	Absent retinal pigment epithelium	2978	GUCA1A	ORPHA:75377
HP:0007984	Electronegative electroretinogram	345193	LRIT3	OMIM:615058
HP:0007984	Electronegative electroretinogram	345193	LRIT3	ORPHA:215
HP:0007984	Electronegative electroretinogram	6011	GRK1	ORPHA:75382
HP:0007984	Electronegative electroretinogram	6011	GRK1	ORPHA:215
HP:0007984	Electronegative electroretinogram	6295	SAG	ORPHA:75382
HP:0007984	Electronegative electroretinogram	6295	SAG	ORPHA:215
HP:0007984	Electronegative electroretinogram	93589	CACNA2D4	OMIM:610478
HP:0007984	Electronegative electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0007984	Electronegative electroretinogram	24	ABCA4	OMIM:604116
HP:0007984	Electronegative electroretinogram	6247	RS1	OMIM:312700
HP:0007984	Electronegative electroretinogram	6017	RLBP1	ORPHA:85128
HP:0007984	Electronegative electroretinogram	57010	CABP4	OMIM:610427
HP:0007984	Electronegative electroretinogram	57010	CABP4	ORPHA:215
HP:0007984	Electronegative electroretinogram	4308	TRPM1	ORPHA:215
HP:0007984	Electronegative electroretinogram	2916	GRM6	ORPHA:215
HP:0007984	Electronegative electroretinogram	5158	PDE6B	ORPHA:215
HP:0007984	Electronegative electroretinogram	440435	GPR179	ORPHA:215
HP:0007984	Electronegative electroretinogram	778	CACNA1F	ORPHA:215
HP:0007984	Electronegative electroretinogram	778	CACNA1F	OMIM:300071
HP:0007984	Electronegative electroretinogram	6010	RHO	ORPHA:215
HP:0007984	Electronegative electroretinogram	9187	SLC24A1	ORPHA:215
HP:0007984	Electronegative electroretinogram	2784	GNB3	ORPHA:215
HP:0007984	Electronegative electroretinogram	2779	GNAT1	ORPHA:215
HP:0007984	Electronegative electroretinogram	60506	NYX	ORPHA:215
HP:0007985	Retinal arteriolar occlusion	2161	F12	ORPHA:330
HP:0007985	Retinal arteriolar occlusion	7439	BEST1	OMIM:193220
HP:0007987	Progressive visual field defects	9129	PRPF3	OMIM:601414
HP:0007987	Progressive visual field defects	5961	PRPH2	ORPHA:52427
HP:0007987	Progressive visual field defects	6017	RLBP1	ORPHA:52427
HP:0007987	Progressive visual field defects	6010	RHO	ORPHA:52427
HP:0007987	Progressive visual field defects	5959	RDH5	ORPHA:52427
HP:0007987	Progressive visual field defects	1499	CTNNB1	ORPHA:54595
HP:0007987	Progressive visual field defects	673	BRAF	ORPHA:54595
HP:0007988	Macular hypopigmentation	103	ADAR	ORPHA:41
HP:0007988	Macular hypopigmentation	80173	IFT74	OMIM:617119
HP:0007988	Macular hypopigmentation	64802	NMNAT1	OMIM:608553
HP:0007988	Macular hypopigmentation	4157	MC1R	ORPHA:79432
HP:0007988	Macular hypopigmentation	4948	OCA2	ORPHA:79432
HP:0033842	Early satiety	1890	TYMP	OMIM:603041
HP:0033842	Early satiety	5428	POLG	OMIM:603041
HP:0007992	Lattice retinal degeneration	1280	COL2A1	ORPHA:485
HP:0007992	Lattice retinal degeneration	1280	COL2A1	OMIM:619248
HP:0007992	Lattice retinal degeneration	55214	P3H2	OMIM:614292
HP:0007993	Malformed lacrimal duct	341640	FREM2	ORPHA:2052
HP:0007993	Malformed lacrimal duct	80144	FRAS1	ORPHA:2052
HP:0007993	Malformed lacrimal duct	80144	FRAS1	OMIM:219000
HP:0007993	Malformed lacrimal duct	23426	GRIP1	ORPHA:2052
HP:0007994	Peripheral visual field loss	24	ABCA4	OMIM:604116
HP:0007994	Peripheral visual field loss	6389	SDHA	OMIM:619259
HP:0007994	Peripheral visual field loss	50484	RRM2B	OMIM:268315
HP:0007994	Peripheral visual field loss	64218	SEMA4A	OMIM:610283
HP:0007994	Peripheral visual field loss	3423	IDS	ORPHA:217085
HP:0007994	Peripheral visual field loss	3423	IDS	ORPHA:217093
HP:0007994	Peripheral visual field loss	1259	CNGA1	OMIM:613756
HP:0007994	Peripheral visual field loss	84100	ARL6	OMIM:209900
HP:0007994	Peripheral visual field loss	79140	CCDC28B	OMIM:209900
HP:0007994	Peripheral visual field loss	582	BBS1	OMIM:209900
HP:0007994	Peripheral visual field loss	6533	SLC6A6	OMIM:145350
HP:0007994	Peripheral visual field loss	5145	PDE6A	OMIM:613810
HP:0007994	Peripheral visual field loss	10283	CWC27	OMIM:250410
HP:0007994	Peripheral visual field loss	130557	ZNF513	OMIM:613617
HP:0007994	Peripheral visual field loss	1737	DLAT	ORPHA:79244
HP:0007994	Peripheral visual field loss	1406	CRX	OMIM:120970
HP:0007994	Peripheral visual field loss	3000	GUCY2D	OMIM:601777
HP:0007994	Peripheral visual field loss	5961	PRPH2	ORPHA:52427
HP:0007994	Peripheral visual field loss	6017	RLBP1	ORPHA:52427
HP:0007994	Peripheral visual field loss	6010	RHO	ORPHA:52427
HP:0007994	Peripheral visual field loss	5959	RDH5	ORPHA:52427
HP:0007994	Peripheral visual field loss	9227	LRAT	ORPHA:364055
HP:0007994	Peripheral visual field loss	55812	SPATA7	ORPHA:364055
HP:0007994	Peripheral visual field loss	6121	RPE65	ORPHA:364055
HP:0007994	Peripheral visual field loss	6121	RPE65	OMIM:618697
HP:0007994	Peripheral visual field loss	167691	LCA5	ORPHA:364055
HP:0007994	Peripheral visual field loss	9742	IFT140	OMIM:266920
HP:0007994	Peripheral visual field loss	100151683	RNU4ATAC	OMIM:226960
HP:0007994	Peripheral visual field loss	8842	PROM1	OMIM:612095
HP:0007994	Peripheral visual field loss	60509	AGBL5	OMIM:617023
HP:0007994	Peripheral visual field loss	24148	PRPF6	OMIM:613983
HP:0007994	Peripheral visual field loss	79628	SH3TC2	ORPHA:99949
HP:0007994	Peripheral visual field loss	1258	CNGB1	OMIM:613767
HP:0007994	Peripheral visual field loss	2202	EFEMP1	ORPHA:98977
HP:0007994	Peripheral visual field loss	1545	CYP1B1	ORPHA:98977
HP:0007994	Peripheral visual field loss	4653	MYOC	ORPHA:98977
HP:0007994	Peripheral visual field loss	5456	POU3F4	ORPHA:1435
HP:0033851	Oculomotor synkinesis	57007	ACKR3	OMIM:619215
HP:0033859	Abnormal peritubular capillary morphology	57728	WDR19	OMIM:614377
HP:0003206	Decreased activity of NADPH oxidase	4688	NCF2	OMIM:233710
HP:0003206	Decreased activity of NADPH oxidase	133686	NADK2	ORPHA:431361
HP:0003206	Decreased activity of NADPH oxidase	1536	CYBB	OMIM:306400
HP:0003206	Decreased activity of NADPH oxidase	653361	NCF1	OMIM:233700
HP:0003206	Decreased activity of NADPH oxidase	1535	CYBA	OMIM:233690
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1203	CLN5	OMIM:256731
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1201	CLN3	OMIM:204200
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	OMIM:600143
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	ORPHA:1947
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:204300
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:601780
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	80331	DNAJC5	OMIM:162350
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	154881	KCTD7	OMIM:611726
HP:0003209	Decreased pyruvate carboxylase activity	2395	FXN	OMIM:229300
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	1200	TPP1	OMIM:204500
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	1203	CLN5	OMIM:256731
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	1201	CLN3	OMIM:204200
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	OMIM:600143
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	ORPHA:1947
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:204300
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:601780
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	80331	DNAJC5	OMIM:162350
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	154881	KCTD7	OMIM:611726
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	10397	NDRG1	OMIM:601455
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1203	CLN5	OMIM:256731
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1201	CLN3	OMIM:204200
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	OMIM:600143
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	OMIM:610003
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	2055	CLN8	ORPHA:1947
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:204300
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:601780
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	1200	TPP1	OMIM:204500
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	80331	DNAJC5	OMIM:162350
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	10397	NDRG1	OMIM:601455
HP:0003203	Impaired oxidative burst	4688	NCF2	OMIM:233710
HP:0003203	Impaired oxidative burst	79415	CYBC1	OMIM:618935
HP:0003203	Impaired oxidative burst	1536	CYBB	OMIM:306400
HP:0003203	Impaired oxidative burst	653361	NCF1	OMIM:233700
HP:0003203	Impaired oxidative burst	84888	SPPL2A	OMIM:619549
HP:0003203	Impaired oxidative burst	1535	CYBA	OMIM:233690
HP:0003203	Impaired oxidative burst	5880	RAC2	OMIM:608203
HP:0003203	Impaired oxidative burst	3394	IRF8	OMIM:226990
HP:0003201	Rhabdomyolysis	203859	ANO5	ORPHA:399096
HP:0003201	Rhabdomyolysis	270	AMPD1	OMIM:615511
HP:0003201	Rhabdomyolysis	788	SLC25A20	OMIM:212138
HP:0003201	Rhabdomyolysis	788	SLC25A20	ORPHA:159
HP:0003201	Rhabdomyolysis	3032	HADHB	ORPHA:746
HP:0003201	Rhabdomyolysis	3030	HADHA	ORPHA:746
HP:0003201	Rhabdomyolysis	3030	HADHA	OMIM:609015
HP:0003201	Rhabdomyolysis	6261	RYR1	ORPHA:466650
HP:0003201	Rhabdomyolysis	6261	RYR1	OMIM:145600
HP:0003201	Rhabdomyolysis	6261	RYR1	ORPHA:424107
HP:0003201	Rhabdomyolysis	100134444	KCNJ18	ORPHA:79102
HP:0003201	Rhabdomyolysis	2556	GABRA3	ORPHA:79102
HP:0003201	Rhabdomyolysis	779	CACNA1S	ORPHA:79102
HP:0003201	Rhabdomyolysis	779	CACNA1S	OMIM:188580
HP:0003201	Rhabdomyolysis	10102	TSFM	OMIM:610505
HP:0003201	Rhabdomyolysis	7504	XK	OMIM:300842
HP:0003201	Rhabdomyolysis	23600	AMACR	ORPHA:79095
HP:0003201	Rhabdomyolysis	3939	LDHA	OMIM:612933
HP:0003201	Rhabdomyolysis	617	BCS1L	OMIM:124000
HP:0003201	Rhabdomyolysis	1716	DGUOK	OMIM:617070
HP:0003201	Rhabdomyolysis	5230	PGK1	OMIM:300653
HP:0003201	Rhabdomyolysis	5230	PGK1	ORPHA:713
HP:0003201	Rhabdomyolysis	513	ATP5F1D	OMIM:618120
HP:0003201	Rhabdomyolysis	5236	PGM1	OMIM:614921
HP:0003201	Rhabdomyolysis	5837	PYGM	OMIM:232600
HP:0003201	Rhabdomyolysis	5837	PYGM	ORPHA:368
HP:0003201	Rhabdomyolysis	5257	PHKB	ORPHA:79240
HP:0003201	Rhabdomyolysis	1376	CPT2	ORPHA:228302
HP:0003201	Rhabdomyolysis	1376	CPT2	ORPHA:228305
HP:0003201	Rhabdomyolysis	1376	CPT2	OMIM:255110
HP:0003201	Rhabdomyolysis	23479	ISCU	OMIM:255125
HP:0003201	Rhabdomyolysis	112812	FDX2	OMIM:251900
HP:0003201	Rhabdomyolysis	5428	POLG	OMIM:157640
HP:0003201	Rhabdomyolysis	8802	SUCLG1	ORPHA:17
HP:0003201	Rhabdomyolysis	5224	PGAM2	OMIM:261670
HP:0003201	Rhabdomyolysis	51693	TRAPPC2L	OMIM:618331
HP:0003201	Rhabdomyolysis	6559	SLC12A3	OMIM:263800
HP:0003201	Rhabdomyolysis	6559	SLC12A3	ORPHA:358
HP:0003201	Rhabdomyolysis	128989	TANGO2	OMIM:616878
HP:0003201	Rhabdomyolysis	90523	MLIP	OMIM:620138
HP:0003201	Rhabdomyolysis	284439	SLC25A42	OMIM:618416
HP:0003201	Rhabdomyolysis	1188	CLCNKB	ORPHA:358
HP:0003201	Rhabdomyolysis	283989	TSEN54	ORPHA:2524
HP:0003201	Rhabdomyolysis	116461	TSEN15	ORPHA:2524
HP:0003201	Rhabdomyolysis	79042	TSEN34	ORPHA:2524
HP:0003201	Rhabdomyolysis	80746	TSEN2	ORPHA:2524
HP:0003201	Rhabdomyolysis	51091	SEPSECS	ORPHA:2524
HP:0003201	Rhabdomyolysis	23175	LPIN1	ORPHA:99845
HP:0003201	Rhabdomyolysis	4512	MT-CO1	ORPHA:99845
HP:0003201	Rhabdomyolysis	4514	MT-CO3	ORPHA:99845
HP:0003201	Rhabdomyolysis	9150	CTDP1	OMIM:604168
HP:0003201	Rhabdomyolysis	9150	CTDP1	ORPHA:48431
HP:0003201	Rhabdomyolysis	37	ACADVL	ORPHA:26793
HP:0003201	Rhabdomyolysis	37	ACADVL	OMIM:201475
HP:0003201	Rhabdomyolysis	226	ALDOA	ORPHA:57
HP:0033864	Abnormal medullary peritubular capillary morphology	57728	WDR19	OMIM:614377
HP:0033867	Multilamellation of medullary peritubular capillary basement membranes	57728	WDR19	OMIM:614377
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	2072	ERCC4	OMIM:278760
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	2177	FANCD2	OMIM:227646
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	2176	FANCC	OMIM:227645
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	2178	FANCE	OMIM:600901
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	2175	FANCA	OMIM:227650
HP:0003214	Prolonged G2 phase of cell cycle	2177	FANCD2	OMIM:227646
HP:0003214	Prolonged G2 phase of cell cycle	2176	FANCC	OMIM:227645
HP:0003214	Prolonged G2 phase of cell cycle	2178	FANCE	OMIM:600901
HP:0003214	Prolonged G2 phase of cell cycle	2175	FANCA	OMIM:227650
HP:0003210	Decreased methylmalonyl-CoA mutase activity	27249	MMADHC	OMIM:277410
HP:0003210	Decreased methylmalonyl-CoA mutase activity	326625	MMAB	OMIM:251110
HP:0003210	Decreased methylmalonyl-CoA mutase activity	25974	MMACHC	OMIM:277400
HP:0003210	Decreased methylmalonyl-CoA mutase activity	5052	PRDX1	OMIM:277400
HP:0003210	Decreased methylmalonyl-CoA mutase activity	166785	MMAA	OMIM:251100
HP:0003219	Ethylmalonic aciduria	23474	ETHE1	ORPHA:51188
HP:0003219	Ethylmalonic aciduria	23474	ETHE1	OMIM:602473
HP:0003219	Ethylmalonic aciduria	3329	HSPD1	OMIM:612233
HP:0003219	Ethylmalonic aciduria	51241	COX16	OMIM:619355
HP:0003219	Ethylmalonic aciduria	5428	POLG	OMIM:203700
HP:0003219	Ethylmalonic aciduria	2108	ETFA	OMIM:231680
HP:0003219	Ethylmalonic aciduria	2109	ETFB	OMIM:231680
HP:0003219	Ethylmalonic aciduria	2110	ETFDH	OMIM:231680
HP:0003219	Ethylmalonic aciduria	8802	SUCLG1	ORPHA:17
HP:0003219	Ethylmalonic aciduria	35	ACADS	OMIM:201470
HP:0003219	Ethylmalonic aciduria	35	ACADS	ORPHA:26792
HP:0003217	Hyperglutaminemia	435	ASL	ORPHA:23
HP:0003217	Hyperglutaminemia	435	ASL	OMIM:207900
HP:0003217	Hyperglutaminemia	763	CA5A	OMIM:615751
HP:0003217	Hyperglutaminemia	5009	OTC	OMIM:311250
HP:0003217	Hyperglutaminemia	162417	NAGS	ORPHA:927
HP:0003217	Hyperglutaminemia	9056	SLC7A7	ORPHA:470
HP:0003217	Hyperglutaminemia	445	ASS1	OMIM:215700
HP:0003217	Hyperglutaminemia	51241	COX16	OMIM:619355
HP:0003217	Hyperglutaminemia	2744	GLS	OMIM:618412
HP:0003217	Hyperglutaminemia	51601	LIPT1	OMIM:616299
HP:0003216	Generalized amyloid deposition	1471	CST3	OMIM:105150
HP:0003216	Generalized amyloid deposition	2934	GSN	OMIM:105120
HP:0003216	Generalized amyloid deposition	4069	LYZ	OMIM:105200
HP:0003216	Generalized amyloid deposition	2243	FGA	OMIM:105200
HP:0003216	Generalized amyloid deposition	335	APOA1	OMIM:105200
HP:0003216	Generalized amyloid deposition	567	B2M	OMIM:105200
HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	1203	CLN5	OMIM:256731
HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	54982	CLN6	OMIM:204300
HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	80331	DNAJC5	OMIM:162350
HP:0003259	Elevated circulating creatinine concentration	3043	HBB	ORPHA:232
HP:0003259	Elevated circulating creatinine concentration	8518	ELP1	OMIM:223900
HP:0003259	Elevated circulating creatinine concentration	1621	DBH	ORPHA:230
HP:0003259	Elevated circulating creatinine concentration	116085	SLC22A12	OMIM:220150
HP:0003259	Elevated circulating creatinine concentration	5311	PKD2	OMIM:613095
HP:0003259	Elevated circulating creatinine concentration	5311	PKD2	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	595	CCND1	ORPHA:29073
HP:0003259	Elevated circulating creatinine concentration	57545	CC2D2A	OMIM:619111
HP:0003259	Elevated circulating creatinine concentration	29927	SEC61A1	OMIM:617056
HP:0003259	Elevated circulating creatinine concentration	2321	FLT1	ORPHA:275555
HP:0003259	Elevated circulating creatinine concentration	219736	STOX1	ORPHA:275555
HP:0003259	Elevated circulating creatinine concentration	10699	CORIN	ORPHA:275555
HP:0003259	Elevated circulating creatinine concentration	4179	CD46	OMIM:612922
HP:0003259	Elevated circulating creatinine concentration	629	CFB	OMIM:612924
HP:0003259	Elevated circulating creatinine concentration	3426	CFI	OMIM:612923
HP:0003259	Elevated circulating creatinine concentration	7056	THBD	OMIM:612926
HP:0003259	Elevated circulating creatinine concentration	718	C3	OMIM:612925
HP:0003259	Elevated circulating creatinine concentration	4867	NPHP1	OMIM:266900
HP:0003259	Elevated circulating creatinine concentration	10229	COQ7	OMIM:616733
HP:0003259	Elevated circulating creatinine concentration	11093	ADAMTS13	OMIM:274150
HP:0003259	Elevated circulating creatinine concentration	1962	EHHADH	OMIM:615605
HP:0003259	Elevated circulating creatinine concentration	1497	CTNS	OMIM:219750
HP:0003259	Elevated circulating creatinine concentration	1497	CTNS	ORPHA:411634
HP:0003259	Elevated circulating creatinine concentration	51726	DNAJB11	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	23193	GANAB	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	5310	PKD1	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	29880	ALG5	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	9742	IFT140	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	79796	ALG9	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	80114	BICC1	ORPHA:730
HP:0003259	Elevated circulating creatinine concentration	1376	CPT2	OMIM:608836
HP:0003259	Elevated circulating creatinine concentration	79989	IFT56	OMIM:619534
HP:0003259	Elevated circulating creatinine concentration	51081	MRPS7	OMIM:617872
HP:0003259	Elevated circulating creatinine concentration	6521	SLC4A1	OMIM:179800
HP:0003259	Elevated circulating creatinine concentration	6928	HNF1B	OMIM:137920
HP:0003259	Elevated circulating creatinine concentration	54916	TMEM260	OMIM:617478
HP:0003259	Elevated circulating creatinine concentration	353	APRT	OMIM:614723
HP:0003259	Elevated circulating creatinine concentration	6522	SLC4A2	OMIM:620366
HP:0003259	Elevated circulating creatinine concentration	5076	PAX2	OMIM:120330
HP:0003259	Elevated circulating creatinine concentration	11277	TREX1	ORPHA:247691
HP:0003259	Elevated circulating creatinine concentration	254428	SLC41A1	OMIM:619468
HP:0003259	Elevated circulating creatinine concentration	57728	WDR19	OMIM:614376
HP:0003259	Elevated circulating creatinine concentration	90523	MLIP	OMIM:620138
HP:0003259	Elevated circulating creatinine concentration	4582	MUC1	OMIM:174000
HP:0003259	Elevated circulating creatinine concentration	79053	ALG8	OMIM:608104
HP:0003259	Elevated circulating creatinine concentration	3251	HPRT1	ORPHA:79233
HP:0003259	Elevated circulating creatinine concentration	27130	INVS	OMIM:602088
HP:0003259	Elevated circulating creatinine concentration	3075	CFH	OMIM:235400
HP:0003259	Elevated circulating creatinine concentration	3078	CFHR1	OMIM:235400
HP:0003259	Elevated circulating creatinine concentration	10878	CFHR3	OMIM:235400
HP:0003259	Elevated circulating creatinine concentration	22909	FAN1	OMIM:614817
HP:0003228	Hypernatremia	6850	SYK	OMIM:619381
HP:0003228	Hypernatremia	554	AVPR2	ORPHA:223
HP:0003228	Hypernatremia	554	AVPR2	OMIM:304800
HP:0003228	Hypernatremia	359	AQP2	ORPHA:223
HP:0003228	Hypernatremia	359	AQP2	OMIM:125800
HP:0003228	Hypernatremia	2260	FGFR1	OMIM:615465
HP:0003228	Hypernatremia	763	CA5A	OMIM:615751
HP:0003228	Hypernatremia	1828	DSG1	OMIM:615508
HP:0003228	Hypernatremia	9915	ARNT2	OMIM:615926
HP:0003228	Hypernatremia	6523	SLC5A1	ORPHA:35710
HP:0003224	Increased cellular sensitivity to UV light	1161	ERCC8	OMIM:614621
HP:0003224	Increased cellular sensitivity to UV light	1161	ERCC8	OMIM:216400
HP:0003224	Increased cellular sensitivity to UV light	2074	ERCC6	OMIM:133540
HP:0003224	Increased cellular sensitivity to UV light	2074	ERCC6	OMIM:600630
HP:0003224	Increased cellular sensitivity to UV light	57654	UVSSA	OMIM:614640
HP:0003224	Increased cellular sensitivity to UV light	2071	ERCC3	OMIM:610651
HP:0003225	Reduced coagulation factor V activity	2542	SLC37A4	OMIM:619525
HP:0003225	Reduced coagulation factor V activity	90411	MCFD2	OMIM:613625
HP:0003225	Reduced coagulation factor V activity	90411	MCFD2	ORPHA:35909
HP:0003225	Reduced coagulation factor V activity	2153	F5	OMIM:227400
HP:0003225	Reduced coagulation factor V activity	3998	LMAN1	OMIM:227300
HP:0003225	Reduced coagulation factor V activity	3998	LMAN1	ORPHA:35909
HP:0003221	Chromosomal breakage induced by crosslinking agents	2188	FANCF	OMIM:603467
HP:0003221	Chromosomal breakage induced by crosslinking agents	675	BRCA2	OMIM:605724
HP:0003221	Chromosomal breakage induced by crosslinking agents	2177	FANCD2	OMIM:227646
HP:0003221	Chromosomal breakage induced by crosslinking agents	1327	COX4I1	OMIM:619060
HP:0003221	Chromosomal breakage induced by crosslinking agents	2176	FANCC	OMIM:227645
HP:0003221	Chromosomal breakage induced by crosslinking agents	2178	FANCE	OMIM:600901
HP:0003221	Chromosomal breakage induced by crosslinking agents	55120	FANCL	OMIM:614083
HP:0003221	Chromosomal breakage induced by crosslinking agents	5888	RAD51	OMIM:617244
HP:0003221	Chromosomal breakage induced by crosslinking agents	2175	FANCA	OMIM:227650
HP:0003221	Chromosomal breakage induced by crosslinking agents	10459	MAD2L2	OMIM:617243
HP:0003221	Chromosomal breakage induced by crosslinking agents	55215	FANCI	OMIM:609053
HP:0003221	Chromosomal breakage induced by crosslinking agents	29089	UBE2T	OMIM:616435
HP:0003221	Chromosomal breakage induced by crosslinking agents	83990	BRIP1	OMIM:609054
HP:0003221	Chromosomal breakage induced by crosslinking agents	84464	SLX4	OMIM:613951
HP:0003221	Chromosomal breakage induced by crosslinking agents	79728	PALB2	OMIM:610832
HP:0003221	Chromosomal breakage induced by crosslinking agents	64858	DCLRE1B	OMIM:620133
HP:0003235	Hypermethioninemia	191	AHCY	OMIM:613752
HP:0003235	Hypermethioninemia	191	AHCY	ORPHA:88618
HP:0003235	Hypermethioninemia	10165	SLC25A13	OMIM:605814
HP:0003235	Hypermethioninemia	10165	SLC25A13	ORPHA:247598
HP:0003235	Hypermethioninemia	132	ADK	OMIM:614300
HP:0003235	Hypermethioninemia	875	CBS	OMIM:236200
HP:0003235	Hypermethioninemia	4143	MAT1A	OMIM:250850
HP:0003235	Hypermethioninemia	2184	FAH	OMIM:276700
HP:0003235	Hypermethioninemia	27232	GNMT	OMIM:606664
HP:0003235	Hypermethioninemia	9652	SKIC3	OMIM:222470
HP:0003235	Hypermethioninemia	7019	TFAM	OMIM:617156
HP:0003233	Decreased HDL cholesterol concentration	4000	LMNA	ORPHA:280365
HP:0003233	Decreased HDL cholesterol concentration	4000	LMNA	OMIM:151660
HP:0003233	Decreased HDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0003233	Decreased HDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0003233	Decreased HDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0003233	Decreased HDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0003233	Decreased HDL cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0003233	Decreased HDL cholesterol concentration	335	APOA1	OMIM:618463
HP:0003233	Decreased HDL cholesterol concentration	335	APOA1	OMIM:619836
HP:0003233	Decreased HDL cholesterol concentration	335	APOA1	ORPHA:425
HP:0003233	Decreased HDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0003233	Decreased HDL cholesterol concentration	19	ABCA1	OMIM:604091
HP:0003233	Decreased HDL cholesterol concentration	19	ABCA1	OMIM:205400
HP:0003233	Decreased HDL cholesterol concentration	19	ABCA1	ORPHA:425
HP:0003233	Decreased HDL cholesterol concentration	10165	SLC25A13	ORPHA:247585
HP:0003233	Decreased HDL cholesterol concentration	10165	SLC25A13	OMIM:605814
HP:0003233	Decreased HDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0003233	Decreased HDL cholesterol concentration	338	APOB	OMIM:615558
HP:0003233	Decreased HDL cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0003233	Decreased HDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0003233	Decreased HDL cholesterol concentration	3931	LCAT	OMIM:245900
HP:0003233	Decreased HDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0003233	Decreased HDL cholesterol concentration	3931	LCAT	ORPHA:79292
HP:0003233	Decreased HDL cholesterol concentration	5468	PPARG	OMIM:604367
HP:0003233	Decreased HDL cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0003233	Decreased HDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0003233	Decreased HDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0003233	Decreased HDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0003233	Decreased HDL cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0003233	Decreased HDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0003233	Decreased HDL cholesterol concentration	348	APOE	ORPHA:412
HP:0003234	Decreased plasma carnitine	1497	CTNS	OMIM:219800
HP:0003234	Decreased plasma carnitine	1738	DLD	ORPHA:2394
HP:0003234	Decreased plasma carnitine	3155	HMGCL	OMIM:246450
HP:0003234	Decreased plasma carnitine	4556	MT-TE	ORPHA:254864
HP:0003234	Decreased plasma carnitine	55687	TRMU	ORPHA:254864
HP:0003234	Decreased plasma carnitine	37	ACADVL	OMIM:201475
HP:0003234	Decreased plasma carnitine	4695	NDUFA2	OMIM:618235
HP:0003234	Decreased plasma carnitine	34	ACADM	OMIM:201450
HP:0003234	Decreased plasma carnitine	1294	COL7A1	ORPHA:89842
HP:0003234	Decreased plasma carnitine	27034	ACAD8	OMIM:611283
HP:0003234	Decreased plasma carnitine	27034	ACAD8	ORPHA:79159
HP:0003234	Decreased plasma carnitine	133686	NADK2	ORPHA:431361
HP:0003234	Decreased plasma carnitine	3033	HADH	ORPHA:71212
HP:0003234	Decreased plasma carnitine	28976	ACAD9	ORPHA:99901
HP:0003234	Decreased plasma carnitine	64087	MCCC2	OMIM:210210
HP:0003234	Decreased plasma carnitine	788	SLC25A20	ORPHA:159
HP:0003234	Decreased plasma carnitine	1962	EHHADH	ORPHA:3337
HP:0003234	Decreased plasma carnitine	2628	GATM	ORPHA:3337
HP:0003234	Decreased plasma carnitine	137682	NDUFAF6	ORPHA:3337
HP:0003234	Decreased plasma carnitine	6569	SLC34A1	ORPHA:3337
HP:0003234	Decreased plasma carnitine	6584	SLC22A5	OMIM:212140
HP:0003234	Decreased plasma carnitine	6341	SCO1	OMIM:619048
HP:0003234	Decreased plasma carnitine	1376	CPT2	OMIM:608836
HP:0003234	Decreased plasma carnitine	1376	CPT2	ORPHA:228305
HP:0003234	Decreased plasma carnitine	1376	CPT2	ORPHA:228308
HP:0003234	Decreased plasma carnitine	4312	MMP1	ORPHA:79408
HP:0003231	Hypertyrosinemia	10165	SLC25A13	OMIM:605814
HP:0003231	Hypertyrosinemia	10165	SLC25A13	ORPHA:247598
HP:0003231	Hypertyrosinemia	3242	HPD	OMIM:276710
HP:0003231	Hypertyrosinemia	3242	HPD	OMIM:140350
HP:0003231	Hypertyrosinemia	6898	TAT	OMIM:276600
HP:0003231	Hypertyrosinemia	2184	FAH	OMIM:276700
HP:0003231	Hypertyrosinemia	617	BCS1L	OMIM:124000
HP:0003231	Hypertyrosinemia	7019	TFAM	OMIM:617156
HP:0003232	Mitochondrial malic enzyme reduced	2395	FXN	OMIM:229300
HP:0003237	Increased circulating IgG level	3561	IL2RG	ORPHA:276
HP:0003237	Increased circulating IgG level	355	FAS	ORPHA:3261
HP:0003237	Increased circulating IgG level	355	FAS	OMIM:601859
HP:0003237	Increased circulating IgG level	356	FASLG	ORPHA:3261
HP:0003237	Increased circulating IgG level	356	FASLG	OMIM:601859
HP:0003237	Increased circulating IgG level	5580	PRKCD	ORPHA:3261
HP:0003237	Increased circulating IgG level	843	CASP10	ORPHA:3261
HP:0003237	Increased circulating IgG level	843	CASP10	OMIM:603909
HP:0003237	Increased circulating IgG level	10125	RASGRP1	ORPHA:3261
HP:0003237	Increased circulating IgG level	10125	RASGRP1	OMIM:618534
HP:0003237	Increased circulating IgG level	3071	NCKAP1L	OMIM:618982
HP:0003237	Increased circulating IgG level	595	CCND1	ORPHA:29073
HP:0003237	Increased circulating IgG level	29775	CARD10	OMIM:619632
HP:0003237	Increased circulating IgG level	51371	POMP	OMIM:618048
HP:0003237	Increased circulating IgG level	10526	IPO8	OMIM:619472
HP:0003237	Increased circulating IgG level	919	CD247	OMIM:610163
HP:0003237	Increased circulating IgG level	5238	PGM3	ORPHA:443811
HP:0003237	Increased circulating IgG level	5238	PGM3	OMIM:615816
HP:0003237	Increased circulating IgG level	340061	STING1	OMIM:615934
HP:0003237	Increased circulating IgG level	3575	IL7R	ORPHA:169154
HP:0003237	Increased circulating IgG level	81704	DOCK8	OMIM:243700
HP:0003237	Increased circulating IgG level	7040	TGFB1	OMIM:618213
HP:0003237	Increased circulating IgG level	7174	TPP2	OMIM:619220
HP:0003237	Increased circulating IgG level	22861	NLRP1	OMIM:617388
HP:0003237	Increased circulating IgG level	3560	IL2RB	OMIM:618495
HP:0003237	Increased circulating IgG level	3459	IFNGR1	OMIM:209950
HP:0003237	Increased circulating IgG level	5696	PSMB8	OMIM:256040
HP:0003237	Increased circulating IgG level	64135	IFIH1	OMIM:619773
HP:0003238	Hyperpepsinogenemia I	4878	NPPA	OMIM:615745
HP:0003246	Prominent scrotal raphe	2263	FGFR2	ORPHA:1555
HP:0003246	Prominent scrotal raphe	2263	FGFR2	OMIM:123790
HP:0003247	Overgrowth of external genitalia	3643	INSR	ORPHA:508
HP:0003247	Overgrowth of external genitalia	5468	PPARG	ORPHA:528
HP:0003247	Overgrowth of external genitalia	10555	AGPAT2	ORPHA:528
HP:0003247	Overgrowth of external genitalia	284119	CAVIN1	ORPHA:528
HP:0003247	Overgrowth of external genitalia	26580	BSCL2	ORPHA:528
HP:0003247	Overgrowth of external genitalia	2353	FOS	ORPHA:528
HP:0003247	Overgrowth of external genitalia	857	CAV1	ORPHA:528
HP:0003247	Overgrowth of external genitalia	1028	CDKN1C	OMIM:130650
HP:0003247	Overgrowth of external genitalia	10984	KCNQ1OT1	OMIM:130650
HP:0003247	Overgrowth of external genitalia	3481	IGF2	OMIM:130650
HP:0003247	Overgrowth of external genitalia	3784	KCNQ1	OMIM:130650
HP:0003244	Penile hypospadias	3187	HNRNPH1	OMIM:620083
HP:0003244	Penile hypospadias	57724	EPG5	OMIM:242840
HP:0003244	Penile hypospadias	10046	MAMLD1	ORPHA:456328
HP:0003244	Penile hypospadias	4534	MTM1	ORPHA:456328
HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	5631	PRPS1	ORPHA:411543
HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	5631	PRPS1	ORPHA:411536
HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	5631	PRPS1	OMIM:300661
HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	7490	WT1	OMIM:194080
HP:0003249	Genital ulcers	7128	TNFAIP3	OMIM:616744
HP:0003249	Genital ulcers	64421	DCLRE1C	OMIM:602450
HP:0003251	Male infertility	374407	DNAJB13	OMIM:617091
HP:0003251	Male infertility	374407	DNAJB13	ORPHA:244
HP:0003251	Male infertility	139212	DNAAF6	OMIM:300991
HP:0003251	Male infertility	139212	DNAAF6	ORPHA:244
HP:0003251	Male infertility	1497	CTNS	OMIM:219800
HP:0003251	Male infertility	125150	ZSWIM7	OMIM:619831
HP:0003251	Male infertility	84074	QRICH2	OMIM:618341
HP:0003251	Male infertility	10734	STAG3	OMIM:619672
HP:0003251	Male infertility	285498	RNF212	OMIM:619673
HP:0003251	Male infertility	124404	SEPTIN12	OMIM:614822
HP:0003251	Male infertility	11055	ZPBP	OMIM:619799
HP:0003251	Male infertility	144132	DNHD1	OMIM:619712
HP:0003251	Male infertility	83894	TTC29	OMIM:618745
HP:0003251	Male infertility	8556	CDC14A	OMIM:608653
HP:0003251	Male infertility	7258	TSPY1	ORPHA:1646
HP:0003251	Male infertility	57055	DAZ2	ORPHA:1646
HP:0003251	Male infertility	57055	DAZ2	OMIM:415000
HP:0003251	Male infertility	57135	DAZ4	ORPHA:1646
HP:0003251	Male infertility	8287	USP9Y	ORPHA:1646
HP:0003251	Male infertility	8287	USP9Y	OMIM:415000
HP:0003251	Male infertility	5940	RBMY1A1	ORPHA:1646
HP:0003251	Male infertility	5940	RBMY1A1	OMIM:415000
HP:0003251	Male infertility	57054	DAZ3	ORPHA:1646
HP:0003251	Male infertility	57054	DAZ3	OMIM:415000
HP:0003251	Male infertility	8653	DDX3Y	ORPHA:1646
HP:0003251	Male infertility	8653	DDX3Y	OMIM:415000
HP:0003251	Male infertility	1617	DAZ1	ORPHA:1646
HP:0003251	Male infertility	1617	DAZ1	OMIM:415000
HP:0003251	Male infertility	286464	CFAP47	OMIM:301059
HP:0003251	Male infertility	317719	KLHL10	OMIM:615081
HP:0003251	Male infertility	83449	PMFBP1	OMIM:618112
HP:0003251	Male infertility	83449	PMFBP1	ORPHA:529970
HP:0003251	Male infertility	317761	C14orf39	OMIM:619202
HP:0003251	Male infertility	79925	SPEF2	OMIM:618751
HP:0003251	Male infertility	79925	SPEF2	ORPHA:244
HP:0003251	Male infertility	402381	SOHLH1	OMIM:618115
HP:0003251	Male infertility	201134	CEP112	OMIM:619044
HP:0003251	Male infertility	122402	TDRD9	OMIM:618110
HP:0003251	Male infertility	2175	FANCA	OMIM:227650
HP:0003251	Male infertility	367	AR	ORPHA:90797
HP:0003251	Male infertility	367	AR	ORPHA:99429
HP:0003251	Male infertility	146845	CFAP52	OMIM:619607
HP:0003251	Male infertility	140801	RPL10L	OMIM:619689
HP:0003251	Male infertility	56155	TEX14	OMIM:617707
HP:0003251	Male infertility	254528	MEIOB	OMIM:617706
HP:0003251	Male infertility	1586	CYP17A1	ORPHA:90793
HP:0003251	Male infertility	2592	GALT	ORPHA:79239
HP:0003251	Male infertility	2212	FCGR2A	OMIM:219700
HP:0003251	Male infertility	7040	TGFB1	OMIM:219700
HP:0003251	Male infertility	1080	CFTR	OMIM:219700
HP:0003251	Male infertility	1080	CFTR	OMIM:277180
HP:0003251	Male infertility	1080	CFTR	ORPHA:48
HP:0003251	Male infertility	10388	SYCP2	OMIM:258150
HP:0003251	Male infertility	286151	FBXO43	OMIM:619696
HP:0003251	Male infertility	8632	DNAH17	OMIM:618643
HP:0003251	Male infertility	57697	FANCM	OMIM:618086
HP:0003251	Male infertility	140732	SUN5	ORPHA:529970
HP:0003251	Male infertility	140732	SUN5	OMIM:617187
HP:0003251	Male infertility	54970	TTC12	OMIM:618801
HP:0003251	Male infertility	54970	TTC12	ORPHA:244
HP:0003251	Male infertility	3973	LHCGR	ORPHA:3000
HP:0003251	Male infertility	80726	IQCN	OMIM:620170
HP:0003251	Male infertility	161497	STRC	ORPHA:94064
HP:0003251	Male infertility	161497	STRC	OMIM:611102
HP:0003251	Male infertility	161497	STRC	OMIM:612997
HP:0003251	Male infertility	117155	CATSPER2	ORPHA:94064
HP:0003251	Male infertility	117155	CATSPER2	OMIM:611102
HP:0003251	Male infertility	117155	CATSPER2	OMIM:612997
HP:0003251	Male infertility	6691	SPINK2	OMIM:618091
HP:0003251	Male infertility	6795	AURKC	OMIM:243060
HP:0003251	Male infertility	22873	DZIP1	OMIM:619102
HP:0003251	Male infertility	80705	TSGA10	OMIM:617961
HP:0003251	Male infertility	56154	TEX15	OMIM:617960
HP:0003251	Male infertility	10149	ADGRG2	OMIM:300985
HP:0003251	Male infertility	10149	ADGRG2	ORPHA:48
HP:0003251	Male infertility	269	AMHR2	OMIM:261550
HP:0003251	Male infertility	268	AMH	OMIM:261550
HP:0003251	Male infertility	80173	IFT74	OMIM:619585
HP:0003251	Male infertility	122481	AK7	OMIM:617965
HP:0003251	Male infertility	6662	SOX9	ORPHA:251510
HP:0003251	Male infertility	6845	VAMP7	ORPHA:251510
HP:0003251	Male infertility	51741	WWOX	ORPHA:251510
HP:0003251	Male infertility	4214	MAP3K1	ORPHA:251510
HP:0003251	Male infertility	2516	NR5A1	ORPHA:251510
HP:0003251	Male infertility	7490	WT1	ORPHA:251510
HP:0003251	Male infertility	58524	DMRT3	ORPHA:251510
HP:0003251	Male infertility	57647	DHX37	ORPHA:251510
HP:0003251	Male infertility	6736	SRY	ORPHA:251510
HP:0003251	Male infertility	6736	SRY	ORPHA:1772
HP:0003251	Male infertility	23414	ZFPM2	ORPHA:251510
HP:0003251	Male infertility	190	NR0B1	ORPHA:251510
HP:0003251	Male infertility	2626	GATA4	ORPHA:251510
HP:0003251	Male infertility	130951	M1AP	OMIM:619108
HP:0003251	Male infertility	9082	XKRY	OMIM:415000
HP:0003251	Male infertility	8284	KDM5D	OMIM:415000
HP:0003251	Male infertility	442862	PRY2	OMIM:415000
HP:0003251	Male infertility	9081	PRY	OMIM:415000
HP:0003251	Male infertility	140032	RPS4Y2	OMIM:415000
HP:0003251	Male infertility	9426	CDY2A	OMIM:415000
HP:0003251	Male infertility	9083	BPY2	OMIM:415000
HP:0003251	Male infertility	86614	HSFY1	OMIM:415000
HP:0003251	Male infertility	9084	VCY	OMIM:415000
HP:0003251	Male infertility	9085	CDY1	OMIM:415000
HP:0003251	Male infertility	57728	WDR19	OMIM:619867
HP:0003251	Male infertility	1588	CYP19A1	ORPHA:91
HP:0003251	Male infertility	339829	CCDC39	OMIM:613807
HP:0003251	Male infertility	339829	CCDC39	ORPHA:244
HP:0003251	Male infertility	27019	DNAI1	OMIM:244400
HP:0003251	Male infertility	27019	DNAI1	ORPHA:244
HP:0003251	Male infertility	55012	PPP2R3C	OMIM:618420
HP:0003251	Male infertility	255101	CFAP65	OMIM:618664
HP:0003251	Male infertility	25981	DNAH1	OMIM:617576
HP:0003251	Male infertility	25981	DNAH1	ORPHA:244
HP:0003251	Male infertility	199223	TTC21A	OMIM:618429
HP:0003251	Male infertility	55329	MNS1	OMIM:618948
HP:0003251	Male infertility	89869	PLCZ1	OMIM:617214
HP:0003251	Male infertility	64446	DNAI2	OMIM:612444
HP:0003251	Male infertility	64446	DNAI2	ORPHA:244
HP:0003251	Male infertility	196385	DNAH10	OMIM:619515
HP:0003251	Male infertility	54456	MOV10L1	OMIM:619878
HP:0003251	Male infertility	8468	FKBP6	OMIM:620103
HP:0003251	Male infertility	92749	DRC1	OMIM:620222
HP:0003251	Male infertility	92749	DRC1	ORPHA:244
HP:0003251	Male infertility	4438	MSH4	OMIM:108420
HP:0003251	Male infertility	56159	TEX11	OMIM:309120
HP:0003251	Male infertility	84071	ARMC2	OMIM:618433
HP:0003251	Male infertility	144406	CFAP251	OMIM:618152
HP:0003251	Male infertility	401024	FSIP2	OMIM:618153
HP:0003251	Male infertility	118491	CFAP70	OMIM:618670
HP:0003251	Male infertility	154197	PNLDC1	OMIM:619528
HP:0003251	Male infertility	84660	CCDC62	OMIM:619803
HP:0003251	Male infertility	84225	ZMYND15	OMIM:615842
HP:0003251	Male infertility	54919	DNAAF5	OMIM:614874
HP:0003251	Male infertility	54919	DNAAF5	ORPHA:244
HP:0003251	Male infertility	151254	C2CD6	OMIM:619805
HP:0003251	Male infertility	145645	TERB2	OMIM:619645
HP:0003251	Male infertility	283847	TERB1	OMIM:619646
HP:0003251	Male infertility	85452	CFAP74	OMIM:620197
HP:0003251	Male infertility	157855	KCNU1	OMIM:620196
HP:0003251	Male infertility	146754	DNAH2	OMIM:619094
HP:0003251	Male infertility	91057	CCDC34	OMIM:620084
HP:0003251	Male infertility	1769	DNAH8	OMIM:619095
HP:0003251	Male infertility	55779	CFAP44	OMIM:617593
HP:0003251	Male infertility	80217	CFAP43	OMIM:617592
HP:0003251	Male infertility	284382	ACTL9	OMIM:619258
HP:0003251	Male infertility	375307	CATIP	OMIM:619379
HP:0003251	Male infertility	4439	MSH5	OMIM:619937
HP:0003251	Male infertility	9075	CLDN2	OMIM:301060
HP:0003251	Male infertility	283417	DPY19L2	OMIM:613958
HP:0003251	Male infertility	50511	SYCP3	OMIM:270960
HP:0003251	Male infertility	9247	GCM2	ORPHA:2239
HP:0003251	Male infertility	115948	ODAD3	ORPHA:244
HP:0003251	Male infertility	54768	HYDIN	ORPHA:244
HP:0003251	Male infertility	352909	DNAAF3	ORPHA:244
HP:0003251	Male infertility	27148	STK36	ORPHA:244
HP:0003251	Male infertility	51314	NME8	ORPHA:244
HP:0003251	Male infertility	152110	NEK10	ORPHA:244
HP:0003251	Male infertility	8481	OFD1	ORPHA:244
HP:0003251	Male infertility	2302	FOXJ1	ORPHA:244
HP:0003251	Male infertility	221421	RSPH9	ORPHA:244
HP:0003251	Male infertility	85478	CCDC65	ORPHA:244
HP:0003251	Male infertility	55036	CCDC40	ORPHA:244
HP:0003251	Male infertility	51364	ZMYND10	ORPHA:244
HP:0003251	Male infertility	6674	SPAG1	ORPHA:244
HP:0003251	Male infertility	83544	DNAL1	ORPHA:244
HP:0003251	Male infertility	89765	RSPH1	ORPHA:244
HP:0003251	Male infertility	83538	ODAD4	ORPHA:244
HP:0003251	Male infertility	200373	CFAP221	ORPHA:244
HP:0003251	Male infertility	55172	DNAAF2	ORPHA:244
HP:0003251	Male infertility	161582	DNAAF4	ORPHA:244
HP:0003251	Male infertility	2622	GAS8	ORPHA:244
HP:0003251	Male infertility	23639	DNAAF11	ORPHA:244
HP:0003251	Male infertility	23639	DNAAF11	OMIM:614935
HP:0003251	Male infertility	345895	RSPH4A	ORPHA:244
HP:0003251	Male infertility	6103	RPGR	ORPHA:244
HP:0003251	Male infertility	388389	CCDC103	ORPHA:244
HP:0003251	Male infertility	93233	ODAD1	ORPHA:244
HP:0003251	Male infertility	55130	ODAD2	ORPHA:244
HP:0003251	Male infertility	1767	DNAH5	ORPHA:244
HP:0003251	Male infertility	83861	RSPH3	ORPHA:244
HP:0003251	Male infertility	345643	MCIDAS	ORPHA:244
HP:0003251	Male infertility	56683	CFAP298	ORPHA:244
HP:0003251	Male infertility	10309	CCNO	ORPHA:244
HP:0003251	Male infertility	115399	LRRC56	ORPHA:244
HP:0003251	Male infertility	123872	DNAAF1	ORPHA:244
HP:0003251	Male infertility	85016	CFAP300	ORPHA:244
HP:0003251	Male infertility	8701	DNAH11	ORPHA:244
HP:0003251	Male infertility	1770	DNAH9	ORPHA:244
HP:0003251	Male infertility	246176	GAS2L2	ORPHA:244
HP:0003251	Male infertility	200162	SPAG17	OMIM:619380
HP:0003251	Male infertility	641	BLM	ORPHA:125
HP:0003251	Male infertility	93953	GCNA	OMIM:301077
HP:0003251	Male infertility	116369	SLC26A8	OMIM:606766
HP:0003251	Male infertility	159686	CFAP58	OMIM:619144
HP:0003251	Male infertility	7516	XRCC2	OMIM:619145
HP:0003251	Male infertility	199720	GGN	OMIM:619826
HP:0003251	Male infertility	676	BRDT	OMIM:617644
HP:0003251	Male infertility	93426	SYCE1	OMIM:616950
HP:0003251	Male infertility	158401	SHOC1	OMIM:619949
HP:0003251	Male infertility	5161	PDHA2	OMIM:619828
HP:0003251	Male infertility	117144	CATSPER1	OMIM:612997
HP:0003251	Male infertility	83893	SPATA16	OMIM:102530
HP:0003251	Male infertility	5604	MAP2K1	OMIM:163950
HP:0003251	Male infertility	5781	PTPN11	OMIM:163950
HP:0003251	Male infertility	673	BRAF	OMIM:163950
HP:0003252	Anteriorly displaced genitalia	7476	WNT7A	OMIM:276820
HP:0003254	Abnormality of DNA repair	1643	DDB2	OMIM:278740
HP:0003254	Abnormality of DNA repair	2073	ERCC5	OMIM:278780
HP:0003254	Abnormality of DNA repair	2074	ERCC6	OMIM:278800
HP:0003254	Abnormality of DNA repair	404672	GTF2H5	ORPHA:33364
HP:0003254	Abnormality of DNA repair	833	CARS1	ORPHA:33364
HP:0003254	Abnormality of DNA repair	2068	ERCC2	ORPHA:33364
HP:0003254	Abnormality of DNA repair	2068	ERCC2	OMIM:278730
HP:0003254	Abnormality of DNA repair	7737	RNF113A	ORPHA:33364
HP:0003254	Abnormality of DNA repair	136647	MPLKIP	ORPHA:33364
HP:0003254	Abnormality of DNA repair	6897	TARS1	ORPHA:33364
HP:0003254	Abnormality of DNA repair	2071	ERCC3	ORPHA:33364
HP:0003254	Abnormality of DNA repair	2961	GTF2E2	ORPHA:33364
HP:0003254	Abnormality of DNA repair	7508	XPC	OMIM:278720
HP:0003254	Abnormality of DNA repair	7507	XPA	OMIM:278700
HP:0003254	Abnormality of DNA repair	2072	ERCC4	OMIM:278760
HP:0003254	Abnormality of DNA repair	2177	FANCD2	OMIM:227646
HP:0003254	Abnormality of DNA repair	2176	FANCC	OMIM:227645
HP:0003254	Abnormality of DNA repair	2178	FANCE	OMIM:600901
HP:0003254	Abnormality of DNA repair	2175	FANCA	OMIM:227650
HP:0003258	Glyoxalase deficiency	2937	GSS	OMIM:231900
HP:0003258	Glyoxalase deficiency	3029	HAGH	OMIM:614033
HP:0003260	Hydroxyprolinemia	4982	TNFRSF11B	OMIM:239000
HP:0003260	Hydroxyprolinemia	348932	SLC6A18	ORPHA:42062
HP:0003260	Hydroxyprolinemia	153201	SLC36A2	ORPHA:42062
HP:0003260	Hydroxyprolinemia	54716	SLC6A20	ORPHA:42062
HP:0003260	Hydroxyprolinemia	340024	SLC6A19	ORPHA:42062
HP:0003262	Smooth muscle antibody positivity	919	CD247	OMIM:610163
HP:0003262	Smooth muscle antibody positivity	843	CASP10	OMIM:603909
HP:0003262	Smooth muscle antibody positivity	83737	ITCH	ORPHA:228426
HP:0003262	Smooth muscle antibody positivity	355	FAS	OMIM:601859
HP:0003262	Smooth muscle antibody positivity	356	FASLG	OMIM:601859
HP:0003262	Smooth muscle antibody positivity	1288	COL4A6	ORPHA:1018
HP:0003262	Smooth muscle antibody positivity	1287	COL4A5	ORPHA:1018
HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	79158	GNPTAB	OMIM:252600
HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	79158	GNPTAB	OMIM:252500
HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level	7372	UMPS	OMIM:258900
HP:0003268	Argininuria	10157	AASS	ORPHA:2203
HP:0003268	Argininuria	11136	SLC7A9	OMIM:220100
HP:0003268	Argininuria	6519	SLC3A1	OMIM:220100
HP:0003268	Argininuria	9056	SLC7A7	ORPHA:470
HP:0003269	Sudanophilic leukodystrophy	9255	AIMP1	OMIM:260600
HP:0003269	Sudanophilic leukodystrophy	5354	PLP1	OMIM:312080
HP:0003269	Sudanophilic leukodystrophy	11128	POLR3A	OMIM:264090
HP:0003271	Visceromegaly	861	RUNX1	ORPHA:98850
HP:0003271	Visceromegaly	3071	NCKAP1L	OMIM:618982
HP:0003271	Visceromegaly	2632	GBE1	OMIM:232500
HP:0003271	Visceromegaly	55823	VPS11	ORPHA:466934
HP:0003271	Visceromegaly	5880	RAC2	OMIM:618986
HP:0003271	Visceromegaly	4023	LPL	OMIM:238600
HP:0003271	Visceromegaly	6775	STAT4	ORPHA:85408
HP:0003271	Visceromegaly	79722	ANKRD55	ORPHA:85408
HP:0003271	Visceromegaly	26191	PTPN22	ORPHA:85408
HP:0003271	Visceromegaly	919	CD247	ORPHA:85408
HP:0003271	Visceromegaly	919	CD247	ORPHA:169160
HP:0003271	Visceromegaly	3559	IL2RA	ORPHA:85408
HP:0003271	Visceromegaly	3559	IL2RA	OMIM:606367
HP:0003271	Visceromegaly	5771	PTPN2	ORPHA:85408
HP:0003271	Visceromegaly	3459	IFNGR1	OMIM:209950
HP:0003271	Visceromegaly	3716	JAK1	OMIM:618999
HP:0003271	Visceromegaly	2122	MECOM	OMIM:616738
HP:0003271	Visceromegaly	9382	COG1	ORPHA:263508
HP:0003271	Visceromegaly	915	CD3D	ORPHA:169160
HP:0003271	Visceromegaly	916	CD3E	ORPHA:169160
HP:0003271	Visceromegaly	1777	DNASE2	OMIM:619858
HP:0003271	Visceromegaly	3376	IARS1	ORPHA:541423
HP:0003271	Visceromegaly	26154	ABCA12	OMIM:601277
HP:0003271	Visceromegaly	7289	TULP3	OMIM:619902
HP:0003271	Visceromegaly	672	BRCA1	ORPHA:1333
HP:0003271	Visceromegaly	285282	RABL3	ORPHA:1333
HP:0003271	Visceromegaly	7157	TP53	ORPHA:1333
HP:0003271	Visceromegaly	675	BRCA2	ORPHA:1333
HP:0003271	Visceromegaly	1029	CDKN2A	ORPHA:1333
HP:0003271	Visceromegaly	79728	PALB2	ORPHA:1333
HP:0003271	Visceromegaly	4089	SMAD4	ORPHA:1333
HP:0003271	Visceromegaly	23022	PALLD	ORPHA:1333
HP:0003271	Visceromegaly	2783	GNB2	OMIM:619503
HP:0003271	Visceromegaly	9051	PSTPIP1	OMIM:604416
HP:0003271	Visceromegaly	970	CD70	OMIM:618261
HP:0003271	Visceromegaly	10043	TOM1	ORPHA:391487
HP:0003271	Visceromegaly	3572	IL6ST	OMIM:619750
HP:0003271	Visceromegaly	6774	STAT3	OMIM:615952
HP:0003271	Visceromegaly	199221	DZIP1L	OMIM:617610
HP:0003271	Visceromegaly	199221	DZIP1L	ORPHA:731
HP:0003271	Visceromegaly	8517	IKBKG	OMIM:301081
HP:0003271	Visceromegaly	2263	FGFR2	OMIM:614592
HP:0003271	Visceromegaly	2263	FGFR2	ORPHA:313855
HP:0003271	Visceromegaly	5788	PTPRC	OMIM:619924
HP:0003271	Visceromegaly	9371	KIF3B	OMIM:618955
HP:0003271	Visceromegaly	5294	PIK3CG	OMIM:619802
HP:0003271	Visceromegaly	2729	GCLC	ORPHA:33574
HP:0003271	Visceromegaly	3718	JAK3	ORPHA:35078
HP:0003271	Visceromegaly	84868	HAVCR2	ORPHA:86884
HP:0003271	Visceromegaly	2193	FARSA	OMIM:619013
HP:0003271	Visceromegaly	3458	IFNG	OMIM:618963
HP:0003271	Visceromegaly	9939	RBM8A	OMIM:274000
HP:0003271	Visceromegaly	84153	RNASEH2C	OMIM:610329
HP:0003271	Visceromegaly	84153	RNASEH2C	ORPHA:51
HP:0003271	Visceromegaly	1513	CTSK	ORPHA:763
HP:0003271	Visceromegaly	25939	SAMHD1	ORPHA:51
HP:0003271	Visceromegaly	79621	RNASEH2B	ORPHA:51
HP:0003271	Visceromegaly	134353	LSM11	ORPHA:51
HP:0003271	Visceromegaly	6006	RHCE	ORPHA:71275
HP:0003271	Visceromegaly	7293	TNFRSF4	OMIM:615593
HP:0003271	Visceromegaly	8573	CASK	OMIM:300908
HP:0003271	Visceromegaly	2539	G6PD	OMIM:300908
HP:0003271	Visceromegaly	4860	PNP	OMIM:613179
HP:0003271	Visceromegaly	755	CFAP410	OMIM:602271
HP:0003271	Visceromegaly	84433	CARD11	OMIM:616452
HP:0003271	Visceromegaly	10730	YME1L1	OMIM:617302
HP:0003271	Visceromegaly	54567	DLL4	OMIM:616589
HP:0003271	Visceromegaly	1441	CSF3R	OMIM:162830
HP:0003271	Visceromegaly	2035	EPB41	ORPHA:288
HP:0003271	Visceromegaly	2035	EPB41	OMIM:611804
HP:0003271	Visceromegaly	2995	GYPC	ORPHA:288
HP:0003271	Visceromegaly	2623	GATA1	OMIM:314050
HP:0003271	Visceromegaly	2623	GATA1	ORPHA:231393
HP:0003271	Visceromegaly	2623	GATA1	ORPHA:79277
HP:0003271	Visceromegaly	80739	MPIG6B	OMIM:617441
HP:0003271	Visceromegaly	10019	SH2B3	OMIM:133100
HP:0003271	Visceromegaly	10019	SH2B3	ORPHA:3318
HP:0003271	Visceromegaly	10019	SH2B3	OMIM:187950
HP:0003271	Visceromegaly	10019	SH2B3	OMIM:254450
HP:0003271	Visceromegaly	2057	EPOR	OMIM:133100
HP:0003271	Visceromegaly	595	CCND1	ORPHA:29073
HP:0003271	Visceromegaly	595	CCND1	ORPHA:52416
HP:0003271	Visceromegaly	27125	AFF4	OMIM:616368
HP:0003271	Visceromegaly	5295	PIK3R1	OMIM:616005
HP:0003271	Visceromegaly	4851	NOTCH1	OMIM:616028
HP:0003271	Visceromegaly	54532	USP53	OMIM:619658
HP:0003271	Visceromegaly	64127	NOD2	ORPHA:90340
HP:0003271	Visceromegaly	54903	MKS1	OMIM:249000
HP:0003271	Visceromegaly	149233	IL23R	ORPHA:117
HP:0003271	Visceromegaly	3586	IL10	ORPHA:117
HP:0003271	Visceromegaly	1230	CCR1	ORPHA:117
HP:0003271	Visceromegaly	3592	IL12A	ORPHA:117
HP:0003271	Visceromegaly	101928376	IL12A-AS1	ORPHA:117
HP:0003271	Visceromegaly	3106	HLA-B	ORPHA:117
HP:0003271	Visceromegaly	7099	TLR4	ORPHA:117
HP:0003271	Visceromegaly	720	C4A	ORPHA:117
HP:0003271	Visceromegaly	337867	UBAC2	ORPHA:117
HP:0003271	Visceromegaly	51752	ERAP1	ORPHA:117
HP:0003271	Visceromegaly	8302	KLRC4	ORPHA:117
HP:0003271	Visceromegaly	5290	PIK3CA	OMIM:612918
HP:0003271	Visceromegaly	22806	IKZF3	OMIM:619437
HP:0003271	Visceromegaly	6916	TBXAS1	ORPHA:1802
HP:0003271	Visceromegaly	596	BCL2	ORPHA:545
HP:0003271	Visceromegaly	3492	IGH	ORPHA:545
HP:0003271	Visceromegaly	3492	IGH	ORPHA:52416
HP:0003271	Visceromegaly	604	BCL6	ORPHA:545
HP:0003271	Visceromegaly	53335	BCL11A	ORPHA:251380
HP:0003271	Visceromegaly	5009	OTC	ORPHA:664
HP:0003271	Visceromegaly	7372	UMPS	ORPHA:30
HP:0003271	Visceromegaly	58484	NLRC4	OMIM:616050
HP:0003271	Visceromegaly	23218	NBEAL2	OMIM:139090
HP:0003271	Visceromegaly	23218	NBEAL2	ORPHA:721
HP:0003271	Visceromegaly	1312	COMT	ORPHA:567
HP:0003271	Visceromegaly	221037	JMJD1C	ORPHA:567
HP:0003271	Visceromegaly	2812	GP1BB	ORPHA:567
HP:0003271	Visceromegaly	6239	RREB1	ORPHA:567
HP:0003271	Visceromegaly	6899	TBX1	ORPHA:567
HP:0003271	Visceromegaly	6899	TBX1	OMIM:188400
HP:0003271	Visceromegaly	7290	HIRA	ORPHA:567
HP:0003271	Visceromegaly	9632	SEC24C	ORPHA:567
HP:0003271	Visceromegaly	7353	UFD1	ORPHA:567
HP:0003271	Visceromegaly	421	ARVCF	ORPHA:567
HP:0003271	Visceromegaly	7389	UROD	ORPHA:95159
HP:0003271	Visceromegaly	212	ALAS2	ORPHA:75563
HP:0003271	Visceromegaly	51095	TRNT1	OMIM:616084
HP:0003271	Visceromegaly	207	AKT1	ORPHA:744
HP:0003271	Visceromegaly	207	AKT1	OMIM:176920
HP:0003271	Visceromegaly	10483	SEC23B	OMIM:224100
HP:0003271	Visceromegaly	60468	BACH2	OMIM:618394
HP:0003271	Visceromegaly	91662	NLRP12	OMIM:611762
HP:0003271	Visceromegaly	5264	PHYH	ORPHA:773
HP:0003271	Visceromegaly	5191	PEX7	ORPHA:773
HP:0003271	Visceromegaly	4938	OAS1	OMIM:618042
HP:0003271	Visceromegaly	6850	SYK	OMIM:619381
HP:0003271	Visceromegaly	613	BCR	ORPHA:521
HP:0003271	Visceromegaly	25	ABL1	ORPHA:521
HP:0003271	Visceromegaly	7066	THPO	ORPHA:71493
HP:0003271	Visceromegaly	7066	THPO	OMIM:187950
HP:0003271	Visceromegaly	2811	GP1BA	OMIM:153670
HP:0003271	Visceromegaly	673	BRAF	OMIM:115150
HP:0003271	Visceromegaly	987	LRBA	OMIM:614700
HP:0003271	Visceromegaly	23149	FCHO1	OMIM:619164
HP:0003271	Visceromegaly	1352	COX10	OMIM:619046
HP:0003271	Visceromegaly	841	CASP8	OMIM:607271
HP:0003271	Visceromegaly	80216	ALPK1	OMIM:614979
HP:0003271	Visceromegaly	472	ATM	ORPHA:52416
HP:0003271	Visceromegaly	9508	ADAMTS3	ORPHA:2136
HP:0003271	Visceromegaly	147372	CCBE1	ORPHA:2136
HP:0003271	Visceromegaly	79633	FAT4	ORPHA:2136
HP:0003271	Visceromegaly	50943	FOXP3	ORPHA:37042
HP:0003271	Visceromegaly	50628	GEMIN4	OMIM:617913
HP:0003271	Visceromegaly	64241	ABCG8	OMIM:210250
HP:0003271	Visceromegaly	219285	SAMD9L	ORPHA:2585
HP:0003271	Visceromegaly	7167	TPI1	OMIM:615512
HP:0003271	Visceromegaly	79848	CSPP1	OMIM:615636
HP:0003271	Visceromegaly	5293	PIK3CD	OMIM:615513
HP:0003271	Visceromegaly	669	BPGM	OMIM:222800
HP:0003271	Visceromegaly	9948	WDR1	OMIM:150550
HP:0003271	Visceromegaly	2821	GPI	OMIM:613470
HP:0003271	Visceromegaly	4790	NFKB1	ORPHA:1572
HP:0003271	Visceromegaly	4791	NFKB2	ORPHA:1572
HP:0003271	Visceromegaly	8742	TNFSF12	ORPHA:1572
HP:0003271	Visceromegaly	931	MS4A1	ORPHA:1572
HP:0003271	Visceromegaly	359948	IRF2BP2	ORPHA:1572
HP:0003271	Visceromegaly	2328	FMO3	OMIM:602079
HP:0003271	Visceromegaly	1718	DHCR24	ORPHA:35107
HP:0003271	Visceromegaly	3098	HK1	OMIM:235700
HP:0003271	Visceromegaly	27040	LAT	OMIM:617514
HP:0003271	Visceromegaly	81570	CLPB	OMIM:619813
HP:0003271	Visceromegaly	10464	PIBF1	OMIM:617767
HP:0003271	Visceromegaly	6929	TCF3	OMIM:619824
HP:0003271	Visceromegaly	1374	CPT1A	ORPHA:156
HP:0003271	Visceromegaly	1374	CPT1A	OMIM:255120
HP:0003271	Visceromegaly	2137	EXTL3	ORPHA:508533
HP:0003271	Visceromegaly	3561	IL2RG	ORPHA:276
HP:0003271	Visceromegaly	3561	IL2RG	OMIM:300400
HP:0003271	Visceromegaly	3561	IL2RG	ORPHA:39041
HP:0003271	Visceromegaly	6584	SLC22A5	ORPHA:158
HP:0003271	Visceromegaly	6584	SLC22A5	OMIM:212140
HP:0003271	Visceromegaly	1497	CTNS	OMIM:219800
HP:0003271	Visceromegaly	875	CBS	ORPHA:394
HP:0003271	Visceromegaly	54539	NDUFB11	ORPHA:2609
HP:0003271	Visceromegaly	25915	NDUFAF3	ORPHA:2609
HP:0003271	Visceromegaly	51103	NDUFAF1	ORPHA:2609
HP:0003271	Visceromegaly	51103	NDUFAF1	OMIM:618234
HP:0003271	Visceromegaly	91942	NDUFAF2	ORPHA:2609
HP:0003271	Visceromegaly	51300	TIMMDC1	ORPHA:2609
HP:0003271	Visceromegaly	4716	NDUFB10	ORPHA:2609
HP:0003271	Visceromegaly	4723	NDUFV1	ORPHA:2609
HP:0003271	Visceromegaly	55572	FOXRED1	ORPHA:2609
HP:0003271	Visceromegaly	284184	NDUFAF8	ORPHA:2609
HP:0003271	Visceromegaly	55863	TMEM126B	ORPHA:2609
HP:0003271	Visceromegaly	4535	MT-ND1	ORPHA:2609
HP:0003271	Visceromegaly	4535	MT-ND1	ORPHA:255210
HP:0003271	Visceromegaly	4537	MT-ND3	ORPHA:2609
HP:0003271	Visceromegaly	4537	MT-ND3	ORPHA:255210
HP:0003271	Visceromegaly	4729	NDUFV2	ORPHA:2609
HP:0003271	Visceromegaly	4694	NDUFA1	ORPHA:2609
HP:0003271	Visceromegaly	4720	NDUFS2	ORPHA:2609
HP:0003271	Visceromegaly	4724	NDUFS4	ORPHA:2609
HP:0003271	Visceromegaly	4724	NDUFS4	OMIM:252010
HP:0003271	Visceromegaly	4726	NDUFS6	ORPHA:2609
HP:0003271	Visceromegaly	4728	NDUFS8	ORPHA:2609
HP:0003271	Visceromegaly	4722	NDUFS3	ORPHA:2609
HP:0003271	Visceromegaly	79133	NDUFAF5	ORPHA:2609
HP:0003271	Visceromegaly	126328	NDUFA11	ORPHA:2609
HP:0003271	Visceromegaly	4709	NDUFB3	ORPHA:2609
HP:0003271	Visceromegaly	80224	NUBPL	ORPHA:2609
HP:0003271	Visceromegaly	29078	NDUFAF4	ORPHA:2609
HP:0003271	Visceromegaly	374291	NDUFS7	ORPHA:2609
HP:0003271	Visceromegaly	374291	NDUFS7	OMIM:618224
HP:0003271	Visceromegaly	4700	NDUFA6	ORPHA:2609
HP:0003271	Visceromegaly	4536	MT-ND2	ORPHA:2609
HP:0003271	Visceromegaly	4536	MT-ND2	ORPHA:255210
HP:0003271	Visceromegaly	4719	NDUFS1	ORPHA:2609
HP:0003271	Visceromegaly	4719	NDUFS1	OMIM:618226
HP:0003271	Visceromegaly	4715	NDUFB9	ORPHA:2609
HP:0003271	Visceromegaly	229	ALDOB	OMIM:229600
HP:0003271	Visceromegaly	229	ALDOB	ORPHA:469
HP:0003271	Visceromegaly	57128	LYRM4	OMIM:615595
HP:0003271	Visceromegaly	5728	PTEN	OMIM:605309
HP:0003271	Visceromegaly	3783	KCNN4	OMIM:616689
HP:0003271	Visceromegaly	1161	ERCC8	ORPHA:90324
HP:0003271	Visceromegaly	1161	ERCC8	ORPHA:90321
HP:0003271	Visceromegaly	1161	ERCC8	ORPHA:90322
HP:0003271	Visceromegaly	1161	ERCC8	OMIM:216400
HP:0003271	Visceromegaly	2074	ERCC6	ORPHA:90324
HP:0003271	Visceromegaly	2074	ERCC6	ORPHA:90321
HP:0003271	Visceromegaly	2074	ERCC6	ORPHA:90322
HP:0003271	Visceromegaly	2074	ERCC6	OMIM:133540
HP:0003271	Visceromegaly	55240	STEAP3	OMIM:615234
HP:0003271	Visceromegaly	60684	TRAPPC11	OMIM:615356
HP:0003271	Visceromegaly	60684	TRAPPC11	ORPHA:369840
HP:0003271	Visceromegaly	19	ABCA1	OMIM:205400
HP:0003271	Visceromegaly	63924	CIDEC	OMIM:615238
HP:0003271	Visceromegaly	63924	CIDEC	ORPHA:435651
HP:0003271	Visceromegaly	2720	GLB1	OMIM:230600
HP:0003271	Visceromegaly	2720	GLB1	OMIM:230650
HP:0003271	Visceromegaly	2720	GLB1	OMIM:230500
HP:0003271	Visceromegaly	2720	GLB1	OMIM:253010
HP:0003271	Visceromegaly	84334	COA8	ORPHA:436271
HP:0003271	Visceromegaly	148738	HJV	OMIM:602390
HP:0003271	Visceromegaly	5830	PEX5	OMIM:214110
HP:0003271	Visceromegaly	5830	PEX5	ORPHA:772
HP:0003271	Visceromegaly	5830	PEX5	ORPHA:912
HP:0003271	Visceromegaly	51	ACOX1	ORPHA:2971
HP:0003271	Visceromegaly	51	ACOX1	OMIM:264470
HP:0003271	Visceromegaly	80270	HSD3B7	ORPHA:79301
HP:0003271	Visceromegaly	80270	HSD3B7	OMIM:607765
HP:0003271	Visceromegaly	5314	PKHD1	ORPHA:53035
HP:0003271	Visceromegaly	5314	PKHD1	OMIM:263200
HP:0003271	Visceromegaly	2072	ERCC4	ORPHA:90321
HP:0003271	Visceromegaly	51099	ABHD5	OMIM:275630
HP:0003271	Visceromegaly	51099	ABHD5	ORPHA:98907
HP:0003271	Visceromegaly	6718	AKR1D1	ORPHA:79303
HP:0003271	Visceromegaly	6718	AKR1D1	OMIM:235555
HP:0003271	Visceromegaly	2067	ERCC1	ORPHA:90322
HP:0003271	Visceromegaly	4538	MT-ND4	ORPHA:255210
HP:0003271	Visceromegaly	4567	MT-TL1	ORPHA:255210
HP:0003271	Visceromegaly	4578	MT-TW	ORPHA:255210
HP:0003271	Visceromegaly	4577	MT-TV	ORPHA:255210
HP:0003271	Visceromegaly	4508	MT-ATP6	ORPHA:255210
HP:0003271	Visceromegaly	4540	MT-ND5	ORPHA:255210
HP:0003271	Visceromegaly	4541	MT-ND6	ORPHA:255210
HP:0003271	Visceromegaly	4566	MT-TK	ORPHA:255210
HP:0003271	Visceromegaly	4233	MET	ORPHA:33402
HP:0003271	Visceromegaly	1499	CTNNB1	ORPHA:33402
HP:0003271	Visceromegaly	197131	UBR1	OMIM:243800
HP:0003271	Visceromegaly	4210	MEFV	OMIM:249100
HP:0003271	Visceromegaly	939	CD27	OMIM:615122
HP:0003271	Visceromegaly	4141	MARS1	OMIM:615486
HP:0003271	Visceromegaly	3162	HMOX1	OMIM:614034
HP:0003271	Visceromegaly	5184	PEPD	OMIM:170100
HP:0003271	Visceromegaly	5184	PEPD	ORPHA:742
HP:0003271	Visceromegaly	65082	VPS33A	OMIM:617303
HP:0003271	Visceromegaly	84936	ZFYVE19	OMIM:619849
HP:0003271	Visceromegaly	129563	DIS3L2	ORPHA:2849
HP:0003271	Visceromegaly	4000	LMNA	OMIM:248370
HP:0003271	Visceromegaly	4000	LMNA	ORPHA:280365
HP:0003271	Visceromegaly	4000	LMNA	ORPHA:79084
HP:0003271	Visceromegaly	4000	LMNA	ORPHA:2348
HP:0003271	Visceromegaly	4000	LMNA	OMIM:151660
HP:0003271	Visceromegaly	51473	DCDC2	OMIM:616217
HP:0003271	Visceromegaly	51473	DCDC2	OMIM:617394
HP:0003271	Visceromegaly	55768	NGLY1	ORPHA:404454
HP:0003271	Visceromegaly	55768	NGLY1	OMIM:615273
HP:0003271	Visceromegaly	79158	GNPTAB	OMIM:252500
HP:0003271	Visceromegaly	7086	TKT	ORPHA:488618
HP:0003271	Visceromegaly	1536	CYBB	ORPHA:379
HP:0003271	Visceromegaly	1536	CYBB	OMIM:306400
HP:0003271	Visceromegaly	4688	NCF2	ORPHA:379
HP:0003271	Visceromegaly	4688	NCF2	OMIM:233710
HP:0003271	Visceromegaly	1535	CYBA	ORPHA:379
HP:0003271	Visceromegaly	1535	CYBA	OMIM:233690
HP:0003271	Visceromegaly	4689	NCF4	ORPHA:379
HP:0003271	Visceromegaly	653361	NCF1	ORPHA:379
HP:0003271	Visceromegaly	653361	NCF1	OMIM:233700
HP:0003271	Visceromegaly	79415	CYBC1	ORPHA:379
HP:0003271	Visceromegaly	5189	PEX1	OMIM:214100
HP:0003271	Visceromegaly	5189	PEX1	OMIM:601539
HP:0003271	Visceromegaly	5189	PEX1	ORPHA:772
HP:0003271	Visceromegaly	5189	PEX1	ORPHA:912
HP:0003271	Visceromegaly	2212	FCGR2A	OMIM:219700
HP:0003271	Visceromegaly	7040	TGFB1	OMIM:219700
HP:0003271	Visceromegaly	7040	TGFB1	ORPHA:1328
HP:0003271	Visceromegaly	1080	CFTR	OMIM:219700
HP:0003271	Visceromegaly	6023	RMRP	ORPHA:175
HP:0003271	Visceromegaly	6023	RMRP	ORPHA:39041
HP:0003271	Visceromegaly	55687	TRMU	OMIM:613070
HP:0003271	Visceromegaly	55687	TRMU	ORPHA:254864
HP:0003271	Visceromegaly	6772	STAT1	OMIM:614162
HP:0003271	Visceromegaly	23495	TNFRSF13B	OMIM:240500
HP:0003271	Visceromegaly	115650	TNFRSF13C	OMIM:240500
HP:0003271	Visceromegaly	1380	CR2	OMIM:240500
HP:0003271	Visceromegaly	29851	ICOS	OMIM:240500
HP:0003271	Visceromegaly	29851	ICOS	OMIM:607594
HP:0003271	Visceromegaly	930	CD19	OMIM:240500
HP:0003271	Visceromegaly	60561	RINT1	OMIM:618641
HP:0003271	Visceromegaly	2859	GPR35	ORPHA:171
HP:0003271	Visceromegaly	10507	SEMA4D	ORPHA:171
HP:0003271	Visceromegaly	4485	MST1	ORPHA:171
HP:0003271	Visceromegaly	6925	TCF4	ORPHA:171
HP:0003271	Visceromegaly	5105	PCK1	OMIM:261680
HP:0003271	Visceromegaly	103	ADAR	OMIM:615010
HP:0003271	Visceromegaly	1493	CTLA4	OMIM:616100
HP:0003271	Visceromegaly	1493	CTLA4	ORPHA:3162
HP:0003271	Visceromegaly	1493	CTLA4	ORPHA:2584
HP:0003271	Visceromegaly	130589	GALM	OMIM:618881
HP:0003271	Visceromegaly	130589	GALM	ORPHA:570422
HP:0003271	Visceromegaly	91869	RFT1	ORPHA:244310
HP:0003271	Visceromegaly	91869	RFT1	OMIM:612015
HP:0003271	Visceromegaly	11232	POLG2	OMIM:618528
HP:0003271	Visceromegaly	5155	PDGFB	ORPHA:1980
HP:0003271	Visceromegaly	9213	XPR1	ORPHA:1980
HP:0003271	Visceromegaly	5159	PDGFRB	ORPHA:1980
HP:0003271	Visceromegaly	57462	MYORG	ORPHA:1980
HP:0003271	Visceromegaly	6575	SLC20A2	ORPHA:1980
HP:0003271	Visceromegaly	58494	JAM2	ORPHA:1980
HP:0003271	Visceromegaly	55109	AGGF1	ORPHA:90308
HP:0003271	Visceromegaly	1716	DGUOK	OMIM:251880
HP:0003271	Visceromegaly	1716	DGUOK	OMIM:617068
HP:0003271	Visceromegaly	5424	POLD1	OMIM:615381
HP:0003271	Visceromegaly	57231	SNX14	OMIM:616354
HP:0003271	Visceromegaly	28755	TRAC	OMIM:615387
HP:0003271	Visceromegaly	1371	CPOX	OMIM:618892
HP:0003271	Visceromegaly	1371	CPOX	OMIM:121300
HP:0003271	Visceromegaly	388962	BOLA3	OMIM:614299
HP:0003271	Visceromegaly	4645	MYO5B	OMIM:619868
HP:0003271	Visceromegaly	788	SLC25A20	ORPHA:159
HP:0003271	Visceromegaly	788	SLC25A20	OMIM:212138
HP:0003271	Visceromegaly	5373	PMM2	OMIM:212065
HP:0003271	Visceromegaly	3039	HBA1	ORPHA:163596
HP:0003271	Visceromegaly	3039	HBA1	OMIM:613978
HP:0003271	Visceromegaly	3040	HBA2	ORPHA:163596
HP:0003271	Visceromegaly	3040	HBA2	OMIM:613978
HP:0003271	Visceromegaly	1244	ABCC2	ORPHA:234
HP:0003271	Visceromegaly	9056	SLC7A7	ORPHA:470
HP:0003271	Visceromegaly	9056	SLC7A7	OMIM:222700
HP:0003271	Visceromegaly	1186	CLCN7	OMIM:618541
HP:0003271	Visceromegaly	1186	CLCN7	ORPHA:667
HP:0003271	Visceromegaly	1186	CLCN7	OMIM:611490
HP:0003271	Visceromegaly	3043	HBB	ORPHA:46532
HP:0003271	Visceromegaly	3043	HBB	ORPHA:231214
HP:0003271	Visceromegaly	3043	HBB	ORPHA:231222
HP:0003271	Visceromegaly	3043	HBB	OMIM:603903
HP:0003271	Visceromegaly	3043	HBB	OMIM:603902
HP:0003271	Visceromegaly	10661	KLF1	ORPHA:46532
HP:0003271	Visceromegaly	10661	KLF1	OMIM:613673
HP:0003271	Visceromegaly	3047	HBG1	ORPHA:46532
HP:0003271	Visceromegaly	3048	HBG2	ORPHA:46532
HP:0003271	Visceromegaly	3048	HBG2	OMIM:613977
HP:0003271	Visceromegaly	5311	PKD2	OMIM:613095
HP:0003271	Visceromegaly	8482	SEMA7A	OMIM:619874
HP:0003271	Visceromegaly	2200	FBN1	OMIM:614185
HP:0003271	Visceromegaly	54914	FOCAD	OMIM:619991
HP:0003271	Visceromegaly	10068	IL18BP	OMIM:618549
HP:0003271	Visceromegaly	7381	UQCRB	OMIM:615158
HP:0003271	Visceromegaly	2592	GALT	OMIM:230400
HP:0003271	Visceromegaly	2592	GALT	ORPHA:79239
HP:0003271	Visceromegaly	5836	PYGL	OMIM:232700
HP:0003271	Visceromegaly	5836	PYGL	ORPHA:369
HP:0003271	Visceromegaly	54440	SASH3	OMIM:301082
HP:0003271	Visceromegaly	2517	FUCA1	ORPHA:349
HP:0003271	Visceromegaly	2517	FUCA1	OMIM:230000
HP:0003271	Visceromegaly	285362	SUMF1	OMIM:272200
HP:0003271	Visceromegaly	285362	SUMF1	ORPHA:585
HP:0003271	Visceromegaly	2203	FBP1	ORPHA:348
HP:0003271	Visceromegaly	2203	FBP1	OMIM:229700
HP:0003271	Visceromegaly	166785	MMAA	OMIM:251100
HP:0003271	Visceromegaly	85365	ALG2	ORPHA:79326
HP:0003271	Visceromegaly	85365	ALG2	OMIM:607906
HP:0003271	Visceromegaly	4598	MVK	ORPHA:343
HP:0003271	Visceromegaly	64421	DCLRE1C	OMIM:603554
HP:0003271	Visceromegaly	64421	DCLRE1C	OMIM:602450
HP:0003271	Visceromegaly	64421	DCLRE1C	ORPHA:39041
HP:0003271	Visceromegaly	5896	RAG1	OMIM:603554
HP:0003271	Visceromegaly	5896	RAG1	ORPHA:39041
HP:0003271	Visceromegaly	5896	RAG1	ORPHA:331206
HP:0003271	Visceromegaly	5897	RAG2	OMIM:603554
HP:0003271	Visceromegaly	5897	RAG2	ORPHA:39041
HP:0003271	Visceromegaly	5897	RAG2	ORPHA:331206
HP:0003271	Visceromegaly	5551	PRF1	OMIM:603553
HP:0003271	Visceromegaly	5551	PRF1	ORPHA:540
HP:0003271	Visceromegaly	79796	ALG9	ORPHA:79328
HP:0003271	Visceromegaly	79796	ALG9	OMIM:608776
HP:0003271	Visceromegaly	8676	STX11	OMIM:603552
HP:0003271	Visceromegaly	8676	STX11	ORPHA:540
HP:0003271	Visceromegaly	5244	ABCB4	OMIM:602347
HP:0003271	Visceromegaly	57169	ZNFX1	OMIM:619644
HP:0003271	Visceromegaly	11311	VPS45	OMIM:615285
HP:0003271	Visceromegaly	10991	SLC38A3	OMIM:619881
HP:0003271	Visceromegaly	11231	SEC63	ORPHA:2924
HP:0003271	Visceromegaly	11231	SEC63	OMIM:617004
HP:0003271	Visceromegaly	5589	PRKCSH	ORPHA:2924
HP:0003271	Visceromegaly	4041	LRP5	ORPHA:2924
HP:0003271	Visceromegaly	2542	SLC37A4	OMIM:619525
HP:0003271	Visceromegaly	2542	SLC37A4	OMIM:232220
HP:0003271	Visceromegaly	2542	SLC37A4	OMIM:232240
HP:0003271	Visceromegaly	2542	SLC37A4	ORPHA:79259
HP:0003271	Visceromegaly	7841	MOGS	ORPHA:79330
HP:0003271	Visceromegaly	7841	MOGS	OMIM:606056
HP:0003271	Visceromegaly	540	ATP7B	OMIM:277900
HP:0003271	Visceromegaly	540	ATP7B	ORPHA:905
HP:0003271	Visceromegaly	2683	B4GALT1	ORPHA:79332
HP:0003271	Visceromegaly	91949	COG7	ORPHA:79333
HP:0003271	Visceromegaly	91949	COG7	OMIM:608779
HP:0003271	Visceromegaly	57104	PNPLA2	OMIM:610717
HP:0003271	Visceromegaly	57104	PNPLA2	ORPHA:565612
HP:0003271	Visceromegaly	57104	PNPLA2	ORPHA:98908
HP:0003271	Visceromegaly	38	ACAT1	ORPHA:134
HP:0003271	Visceromegaly	9968	MED12	OMIM:301068
HP:0003271	Visceromegaly	3930	LBR	OMIM:215140
HP:0003271	Visceromegaly	3930	LBR	ORPHA:779
HP:0003271	Visceromegaly	3930	LBR	OMIM:613471
HP:0003271	Visceromegaly	4351	MPI	ORPHA:79319
HP:0003271	Visceromegaly	4351	MPI	OMIM:602579
HP:0003271	Visceromegaly	7030	TFE3	OMIM:301066
HP:0003271	Visceromegaly	2239	GPC4	ORPHA:373
HP:0003271	Visceromegaly	2239	GPC4	OMIM:312870
HP:0003271	Visceromegaly	2719	GPC3	ORPHA:373
HP:0003271	Visceromegaly	2719	GPC3	OMIM:312870
HP:0003271	Visceromegaly	811	CALR	ORPHA:131
HP:0003271	Visceromegaly	811	CALR	ORPHA:824
HP:0003271	Visceromegaly	3717	JAK2	ORPHA:131
HP:0003271	Visceromegaly	3717	JAK2	ORPHA:824
HP:0003271	Visceromegaly	3717	JAK2	ORPHA:729
HP:0003271	Visceromegaly	2153	F5	ORPHA:131
HP:0003271	Visceromegaly	51651	PTRH2	OMIM:616263
HP:0003271	Visceromegaly	51651	PTRH2	ORPHA:456312
HP:0003271	Visceromegaly	5966	REL	OMIM:619652
HP:0003271	Visceromegaly	23162	MAPK8IP3	OMIM:618443
HP:0003271	Visceromegaly	5692	PSMB4	OMIM:617591
HP:0003271	Visceromegaly	5698	PSMB9	OMIM:617591
HP:0003271	Visceromegaly	79989	IFT56	OMIM:619534
HP:0003271	Visceromegaly	3423	IDS	OMIM:309900
HP:0003271	Visceromegaly	5286	PIK3C2A	OMIM:618440
HP:0003271	Visceromegaly	8565	YARS1	OMIM:619418
HP:0003271	Visceromegaly	84168	ANTXR1	OMIM:230740
HP:0003271	Visceromegaly	3172	HNF4A	OMIM:616026
HP:0003271	Visceromegaly	3172	HNF4A	ORPHA:263455
HP:0003271	Visceromegaly	654	BMP6	ORPHA:465508
HP:0003271	Visceromegaly	3077	HFE	ORPHA:465508
HP:0003271	Visceromegaly	3077	HFE	OMIM:235200
HP:0003271	Visceromegaly	2184	FAH	OMIM:276700
HP:0003271	Visceromegaly	2184	FAH	ORPHA:882
HP:0003271	Visceromegaly	8813	DPM1	ORPHA:79322
HP:0003271	Visceromegaly	8813	DPM1	OMIM:608799
HP:0003271	Visceromegaly	51311	TLR8	OMIM:301078
HP:0003271	Visceromegaly	1616	DAXX	ORPHA:100075
HP:0003271	Visceromegaly	546	ATRX	ORPHA:100075
HP:0003271	Visceromegaly	4615	MYD88	ORPHA:33226
HP:0003271	Visceromegaly	2629	GBA1	ORPHA:77261
HP:0003271	Visceromegaly	2629	GBA1	ORPHA:77260
HP:0003271	Visceromegaly	2629	GBA1	ORPHA:77259
HP:0003271	Visceromegaly	2629	GBA1	OMIM:230800
HP:0003271	Visceromegaly	2629	GBA1	OMIM:230900
HP:0003271	Visceromegaly	2629	GBA1	OMIM:608013
HP:0003271	Visceromegaly	2629	GBA1	OMIM:231005
HP:0003271	Visceromegaly	2629	GBA1	OMIM:231000
HP:0003271	Visceromegaly	2629	GBA1	ORPHA:85212
HP:0003271	Visceromegaly	6576	SLC25A1	OMIM:615182
HP:0003271	Visceromegaly	6927	HNF1A	ORPHA:324575
HP:0003271	Visceromegaly	9742	IFT140	OMIM:266920
HP:0003271	Visceromegaly	205327	C2orf69	OMIM:619423
HP:0003271	Visceromegaly	4633	MYL2	OMIM:619424
HP:0003271	Visceromegaly	5825	ABCD3	OMIM:616278
HP:0003271	Visceromegaly	5256	PHKA2	ORPHA:264580
HP:0003271	Visceromegaly	5256	PHKA2	OMIM:306000
HP:0003271	Visceromegaly	5261	PHKG2	ORPHA:264580
HP:0003271	Visceromegaly	5261	PHKG2	OMIM:613027
HP:0003271	Visceromegaly	113220	KIF12	OMIM:619662
HP:0003271	Visceromegaly	3000	GUCY2D	OMIM:204000
HP:0003271	Visceromegaly	344	APOC2	OMIM:207750
HP:0003271	Visceromegaly	5277	PIGA	OMIM:301072
HP:0003271	Visceromegaly	5277	PIGA	OMIM:300868
HP:0003271	Visceromegaly	846	CASR	OMIM:239200
HP:0003271	Visceromegaly	846	CASR	ORPHA:417
HP:0003271	Visceromegaly	4594	MMUT	ORPHA:79312
HP:0003271	Visceromegaly	4594	MMUT	ORPHA:289916
HP:0003271	Visceromegaly	4594	MMUT	OMIM:251000
HP:0003271	Visceromegaly	950	SCARB2	ORPHA:77259
HP:0003271	Visceromegaly	3155	HMGCL	ORPHA:20
HP:0003271	Visceromegaly	3155	HMGCL	OMIM:246450
HP:0003271	Visceromegaly	65992	DDRGK1	OMIM:602557
HP:0003271	Visceromegaly	6448	SGSH	OMIM:252900
HP:0003271	Visceromegaly	10466	COG5	ORPHA:263487
HP:0003271	Visceromegaly	10112	KIF20A	OMIM:619433
HP:0003271	Visceromegaly	10112	KIF20A	ORPHA:75249
HP:0003271	Visceromegaly	331	XIAP	OMIM:300635
HP:0003271	Visceromegaly	331	XIAP	OMIM:308240
HP:0003271	Visceromegaly	54517	PUS7	OMIM:618342
HP:0003271	Visceromegaly	85476	GFM1	OMIM:609060
HP:0003271	Visceromegaly	8818	DPM2	ORPHA:329178
HP:0003271	Visceromegaly	9842	PLEKHM1	OMIM:618107
HP:0003271	Visceromegaly	959	CD40LG	OMIM:308230
HP:0003271	Visceromegaly	10102	TSFM	OMIM:610505
HP:0003271	Visceromegaly	54790	TET2	ORPHA:75564
HP:0003271	Visceromegaly	54790	TET2	ORPHA:98849
HP:0003271	Visceromegaly	54790	TET2	ORPHA:824
HP:0003271	Visceromegaly	54790	TET2	ORPHA:729
HP:0003271	Visceromegaly	23451	SF3B1	ORPHA:75564
HP:0003271	Visceromegaly	10312	TCIRG1	ORPHA:667
HP:0003271	Visceromegaly	10312	TCIRG1	OMIM:259700
HP:0003271	Visceromegaly	29887	SNX10	ORPHA:667
HP:0003271	Visceromegaly	29887	SNX10	OMIM:615085
HP:0003271	Visceromegaly	8600	TNFSF11	ORPHA:667
HP:0003271	Visceromegaly	5095	PCCA	ORPHA:35
HP:0003271	Visceromegaly	5095	PCCA	OMIM:606054
HP:0003271	Visceromegaly	5096	PCCB	ORPHA:35
HP:0003271	Visceromegaly	5096	PCCB	OMIM:606054
HP:0003271	Visceromegaly	201294	UNC13D	ORPHA:540
HP:0003271	Visceromegaly	6813	STXBP2	ORPHA:540
HP:0003271	Visceromegaly	55315	SLC29A3	OMIM:602782
HP:0003271	Visceromegaly	6514	SLC2A2	OMIM:227810
HP:0003271	Visceromegaly	6514	SLC2A2	ORPHA:2088
HP:0003271	Visceromegaly	11277	TREX1	OMIM:225750
HP:0003271	Visceromegaly	4695	NDUFA2	OMIM:618235
HP:0003271	Visceromegaly	79868	ALG13	OMIM:300884
HP:0003271	Visceromegaly	51119	SBDS	OMIM:260400
HP:0003271	Visceromegaly	51119	SBDS	ORPHA:811
HP:0003271	Visceromegaly	134218	DNAJC21	OMIM:260400
HP:0003271	Visceromegaly	134218	DNAJC21	ORPHA:811
HP:0003271	Visceromegaly	6729	SRP54	OMIM:260400
HP:0003271	Visceromegaly	6729	SRP54	ORPHA:811
HP:0003271	Visceromegaly	22861	NLRP1	OMIM:617388
HP:0003271	Visceromegaly	5660	PSAP	OMIM:611721
HP:0003271	Visceromegaly	5660	PSAP	OMIM:610539
HP:0003271	Visceromegaly	5660	PSAP	ORPHA:139406
HP:0003271	Visceromegaly	55503	TRPV6	ORPHA:417
HP:0003271	Visceromegaly	1130	LYST	OMIM:214500
HP:0003271	Visceromegaly	348	APOE	ORPHA:412
HP:0003271	Visceromegaly	348	APOE	ORPHA:158029
HP:0003271	Visceromegaly	4068	SH2D1A	OMIM:308240
HP:0003271	Visceromegaly	10166	SLC25A15	ORPHA:415
HP:0003271	Visceromegaly	10166	SLC25A15	OMIM:238970
HP:0003271	Visceromegaly	114548	NLRP3	ORPHA:575
HP:0003271	Visceromegaly	114548	NLRP3	ORPHA:1451
HP:0003271	Visceromegaly	537	ATP6AP1	OMIM:300972
HP:0003271	Visceromegaly	34	ACADM	OMIM:201450
HP:0003271	Visceromegaly	34	ACADM	ORPHA:42
HP:0003271	Visceromegaly	4125	MAN2B1	OMIM:248500
HP:0003271	Visceromegaly	50619	DEF6	OMIM:619573
HP:0003271	Visceromegaly	3756	KCNH1	OMIM:135500
HP:0003271	Visceromegaly	3756	KCNH1	ORPHA:3473
HP:0003271	Visceromegaly	3394	IRF8	OMIM:226990
HP:0003271	Visceromegaly	7468	NSD2	OMIM:619695
HP:0003271	Visceromegaly	11274	USP18	OMIM:617397
HP:0003271	Visceromegaly	4864	NPC1	OMIM:257220
HP:0003271	Visceromegaly	3158	HMGCS2	OMIM:605911
HP:0003271	Visceromegaly	4547	MTTP	ORPHA:14
HP:0003271	Visceromegaly	112812	FDX2	OMIM:251900
HP:0003271	Visceromegaly	4556	MT-TE	ORPHA:254864
HP:0003271	Visceromegaly	55630	SLC39A4	OMIM:201100
HP:0003271	Visceromegaly	9451	EIF2AK3	OMIM:226980
HP:0003271	Visceromegaly	9451	EIF2AK3	ORPHA:1667
HP:0003271	Visceromegaly	8802	SUCLG1	ORPHA:17
HP:0003271	Visceromegaly	6007	RHD	OMIM:619462
HP:0003271	Visceromegaly	55340	GIMAP5	OMIM:619463
HP:0003271	Visceromegaly	3560	IL2RB	OMIM:618495
HP:0003271	Visceromegaly	8883	NAE1	OMIM:620210
HP:0003271	Visceromegaly	84701	COX4I2	OMIM:612714
HP:0003271	Visceromegaly	60386	SLC25A19	ORPHA:99742
HP:0003271	Visceromegaly	60386	SLC25A19	OMIM:607196
HP:0003271	Visceromegaly	56244	BTNL2	ORPHA:797
HP:0003271	Visceromegaly	56244	BTNL2	OMIM:612387
HP:0003271	Visceromegaly	3123	HLA-DRB1	ORPHA:797
HP:0003271	Visceromegaly	3123	HLA-DRB1	ORPHA:85414
HP:0003271	Visceromegaly	3123	HLA-DRB1	OMIM:181000
HP:0003271	Visceromegaly	650	BMP2	OMIM:235200
HP:0003271	Visceromegaly	8943	AP3D1	OMIM:617050
HP:0003271	Visceromegaly	37	ACADVL	OMIM:201475
HP:0003271	Visceromegaly	37	ACADVL	ORPHA:26793
HP:0003271	Visceromegaly	57003	CCDC47	OMIM:618268
HP:0003271	Visceromegaly	57061	HYMAI	ORPHA:96191
HP:0003271	Visceromegaly	5325	PLAGL1	ORPHA:96191
HP:0003271	Visceromegaly	570	BAAT	OMIM:619232
HP:0003271	Visceromegaly	94005	PIGS	OMIM:618143
HP:0003271	Visceromegaly	435	ASL	OMIM:207900
HP:0003271	Visceromegaly	3643	INSR	ORPHA:508
HP:0003271	Visceromegaly	83706	FERMT3	OMIM:612840
HP:0003271	Visceromegaly	9420	CYP7B1	OMIM:613812
HP:0003271	Visceromegaly	84665	MYPN	ORPHA:75249
HP:0003271	Visceromegaly	2318	FLNC	ORPHA:75249
HP:0003271	Visceromegaly	7139	TNNT2	ORPHA:75249
HP:0003271	Visceromegaly	7137	TNNI3	ORPHA:75249
HP:0003271	Visceromegaly	55636	CHD7	ORPHA:39041
HP:0003271	Visceromegaly	3981	LIG4	ORPHA:39041
HP:0003271	Visceromegaly	3981	LIG4	ORPHA:99812
HP:0003271	Visceromegaly	100	ADA	ORPHA:39041
HP:0003271	Visceromegaly	100	ADA	OMIM:102700
HP:0003271	Visceromegaly	3575	IL7R	ORPHA:39041
HP:0003271	Visceromegaly	3575	IL7R	OMIM:608971
HP:0003271	Visceromegaly	100147744	RNU7-1	OMIM:619487
HP:0003271	Visceromegaly	7504	XK	OMIM:300842
HP:0003271	Visceromegaly	8567	MADD	OMIM:619004
HP:0003271	Visceromegaly	8567	MADD	OMIM:619005
HP:0003271	Visceromegaly	374354	NHLRC2	OMIM:618278
HP:0003271	Visceromegaly	374879	ZNF699	OMIM:619488
HP:0003271	Visceromegaly	10651	MTX2	OMIM:619127
HP:0003271	Visceromegaly	226	ALDOA	OMIM:611881
HP:0003271	Visceromegaly	3557	IL1RN	OMIM:612852
HP:0003271	Visceromegaly	7284	TUFM	OMIM:610678
HP:0003271	Visceromegaly	2799	GNS	OMIM:252940
HP:0003271	Visceromegaly	3030	HADHA	OMIM:609016
HP:0003271	Visceromegaly	3030	HADHA	ORPHA:5
HP:0003271	Visceromegaly	10551	AGR2	OMIM:620233
HP:0003271	Visceromegaly	55670	PEX26	ORPHA:772
HP:0003271	Visceromegaly	55670	PEX26	OMIM:614872
HP:0003271	Visceromegaly	55670	PEX26	ORPHA:912
HP:0003271	Visceromegaly	5824	PEX19	ORPHA:772
HP:0003271	Visceromegaly	5824	PEX19	ORPHA:912
HP:0003271	Visceromegaly	5828	PEX2	ORPHA:772
HP:0003271	Visceromegaly	5828	PEX2	OMIM:614866
HP:0003271	Visceromegaly	5828	PEX2	ORPHA:912
HP:0003271	Visceromegaly	8504	PEX3	ORPHA:772
HP:0003271	Visceromegaly	8504	PEX3	OMIM:614882
HP:0003271	Visceromegaly	8504	PEX3	ORPHA:912
HP:0003271	Visceromegaly	9409	PEX16	ORPHA:772
HP:0003271	Visceromegaly	9409	PEX16	OMIM:614876
HP:0003271	Visceromegaly	9409	PEX16	ORPHA:912
HP:0003271	Visceromegaly	5190	PEX6	ORPHA:772
HP:0003271	Visceromegaly	5190	PEX6	OMIM:614862
HP:0003271	Visceromegaly	5190	PEX6	OMIM:614863
HP:0003271	Visceromegaly	5190	PEX6	ORPHA:912
HP:0003271	Visceromegaly	8799	PEX11B	ORPHA:772
HP:0003271	Visceromegaly	8799	PEX11B	ORPHA:912
HP:0003271	Visceromegaly	5193	PEX12	ORPHA:772
HP:0003271	Visceromegaly	5193	PEX12	OMIM:614859
HP:0003271	Visceromegaly	5193	PEX12	ORPHA:912
HP:0003271	Visceromegaly	5193	PEX12	OMIM:266510
HP:0003271	Visceromegaly	5194	PEX13	ORPHA:772
HP:0003271	Visceromegaly	5194	PEX13	ORPHA:912
HP:0003271	Visceromegaly	5195	PEX14	ORPHA:772
HP:0003271	Visceromegaly	5195	PEX14	OMIM:614887
HP:0003271	Visceromegaly	5195	PEX14	ORPHA:912
HP:0003271	Visceromegaly	5192	PEX10	ORPHA:772
HP:0003271	Visceromegaly	5192	PEX10	OMIM:614870
HP:0003271	Visceromegaly	5192	PEX10	ORPHA:912
HP:0003271	Visceromegaly	3988	LIPA	ORPHA:75233
HP:0003271	Visceromegaly	3988	LIPA	ORPHA:75234
HP:0003271	Visceromegaly	3988	LIPA	OMIM:278000
HP:0003271	Visceromegaly	940	CD28	ORPHA:3162
HP:0003271	Visceromegaly	940	CD28	ORPHA:2584
HP:0003271	Visceromegaly	7133	TNFRSF1B	ORPHA:3162
HP:0003271	Visceromegaly	7133	TNFRSF1B	ORPHA:2584
HP:0003271	Visceromegaly	7390	UROS	OMIM:263700
HP:0003271	Visceromegaly	8651	SOCS1	OMIM:619375
HP:0003271	Visceromegaly	9487	PIGL	OMIM:280000
HP:0003271	Visceromegaly	383	ARG1	OMIM:207800
HP:0003271	Visceromegaly	5236	PGM1	OMIM:614921
HP:0003271	Visceromegaly	55005	RMND1	OMIM:614922
HP:0003271	Visceromegaly	79651	RHBDF2	ORPHA:2198
HP:0003271	Visceromegaly	3295	HSD17B4	OMIM:261515
HP:0003271	Visceromegaly	22800	RRAS2	ORPHA:648
HP:0003271	Visceromegaly	867	CBL	ORPHA:648
HP:0003271	Visceromegaly	8216	LZTR1	ORPHA:648
HP:0003271	Visceromegaly	6016	RIT1	ORPHA:648
HP:0003271	Visceromegaly	6237	RRAS	ORPHA:648
HP:0003271	Visceromegaly	5894	RAF1	ORPHA:648
HP:0003271	Visceromegaly	22808	MRAS	ORPHA:648
HP:0003271	Visceromegaly	3845	KRAS	ORPHA:648
HP:0003271	Visceromegaly	3845	KRAS	OMIM:614470
HP:0003271	Visceromegaly	200734	SPRED2	ORPHA:648
HP:0003271	Visceromegaly	4893	NRAS	ORPHA:648
HP:0003271	Visceromegaly	4893	NRAS	OMIM:614470
HP:0003271	Visceromegaly	6654	SOS1	ORPHA:648
HP:0003271	Visceromegaly	6655	SOS2	ORPHA:648
HP:0003271	Visceromegaly	5781	PTPN11	ORPHA:648
HP:0003271	Visceromegaly	5922	RASA2	ORPHA:648
HP:0003271	Visceromegaly	138050	HGSNAT	OMIM:252930
HP:0003271	Visceromegaly	10020	GNE	ORPHA:3166
HP:0003271	Visceromegaly	10020	GNE	OMIM:269921
HP:0003271	Visceromegaly	1376	CPT2	ORPHA:228305
HP:0003271	Visceromegaly	1376	CPT2	ORPHA:228308
HP:0003271	Visceromegaly	1376	CPT2	OMIM:600649
HP:0003271	Visceromegaly	1376	CPT2	OMIM:608836
HP:0003271	Visceromegaly	5468	PPARG	ORPHA:528
HP:0003271	Visceromegaly	5468	PPARG	ORPHA:79083
HP:0003271	Visceromegaly	10555	AGPAT2	ORPHA:528
HP:0003271	Visceromegaly	10555	AGPAT2	OMIM:608594
HP:0003271	Visceromegaly	284119	CAVIN1	ORPHA:528
HP:0003271	Visceromegaly	284119	CAVIN1	OMIM:613327
HP:0003271	Visceromegaly	26580	BSCL2	ORPHA:528
HP:0003271	Visceromegaly	26580	BSCL2	OMIM:615924
HP:0003271	Visceromegaly	26580	BSCL2	ORPHA:363400
HP:0003271	Visceromegaly	26580	BSCL2	OMIM:269700
HP:0003271	Visceromegaly	2353	FOS	ORPHA:528
HP:0003271	Visceromegaly	857	CAV1	ORPHA:528
HP:0003271	Visceromegaly	857	CAV1	OMIM:612526
HP:0003271	Visceromegaly	124454	EARS2	OMIM:614924
HP:0003271	Visceromegaly	1719	DHFR	OMIM:613839
HP:0003271	Visceromegaly	64131	XYLT1	ORPHA:370930
HP:0003271	Visceromegaly	129285	PPP1R21	OMIM:619383
HP:0003271	Visceromegaly	51626	DYNC2LI1	OMIM:617088
HP:0003271	Visceromegaly	5257	PHKB	OMIM:261750
HP:0003271	Visceromegaly	5257	PHKB	ORPHA:79240
HP:0003271	Visceromegaly	1604	CD55	OMIM:226300
HP:0003271	Visceromegaly	146059	CDAN1	OMIM:224120
HP:0003271	Visceromegaly	9652	SKIC3	ORPHA:84064
HP:0003271	Visceromegaly	9652	SKIC3	OMIM:222470
HP:0003271	Visceromegaly	6499	SKIC2	ORPHA:84064
HP:0003271	Visceromegaly	6499	SKIC2	OMIM:614602
HP:0003271	Visceromegaly	10535	RNASEH2A	OMIM:610333
HP:0003271	Visceromegaly	5696	PSMB8	OMIM:256040
HP:0003271	Visceromegaly	4669	NAGLU	OMIM:252920
HP:0003271	Visceromegaly	26276	VPS33B	OMIM:620010
HP:0003271	Visceromegaly	27183	VPS4A	OMIM:619273
HP:0003271	Visceromegaly	355	FAS	ORPHA:3261
HP:0003271	Visceromegaly	355	FAS	OMIM:601859
HP:0003271	Visceromegaly	356	FASLG	ORPHA:3261
HP:0003271	Visceromegaly	356	FASLG	OMIM:601859
HP:0003271	Visceromegaly	5580	PRKCD	ORPHA:3261
HP:0003271	Visceromegaly	5580	PRKCD	OMIM:615559
HP:0003271	Visceromegaly	843	CASP10	ORPHA:3261
HP:0003271	Visceromegaly	843	CASP10	OMIM:603909
HP:0003271	Visceromegaly	10125	RASGRP1	ORPHA:3261
HP:0003271	Visceromegaly	144811	LACC1	ORPHA:85414
HP:0003271	Visceromegaly	4282	MIF	ORPHA:85414
HP:0003271	Visceromegaly	3569	IL6	ORPHA:85414
HP:0003271	Visceromegaly	6309	SC5D	ORPHA:46059
HP:0003271	Visceromegaly	4574	MT-TS1	OMIM:220110
HP:0003271	Visceromegaly	4570	MT-TN	OMIM:220110
HP:0003271	Visceromegaly	6834	SURF1	OMIM:220110
HP:0003271	Visceromegaly	55532	SLC30A10	ORPHA:309854
HP:0003271	Visceromegaly	55532	SLC30A10	OMIM:613280
HP:0003271	Visceromegaly	83700	JAM3	OMIM:613730
HP:0003271	Visceromegaly	57539	WDR35	OMIM:613610
HP:0003271	Visceromegaly	171023	ASXL1	ORPHA:98849
HP:0003271	Visceromegaly	3815	KIT	ORPHA:98849
HP:0003271	Visceromegaly	6427	SRSF2	ORPHA:98849
HP:0003271	Visceromegaly	4352	MPL	ORPHA:824
HP:0003271	Visceromegaly	4352	MPL	ORPHA:729
HP:0003271	Visceromegaly	7518	XRCC4	ORPHA:99812
HP:0003271	Visceromegaly	8854	ALDH1A2	OMIM:620025
HP:0003271	Visceromegaly	4758	NEU1	OMIM:256550
HP:0003271	Visceromegaly	4758	NEU1	ORPHA:93399
HP:0003271	Visceromegaly	4758	NEU1	ORPHA:93400
HP:0003271	Visceromegaly	2038	EPB42	ORPHA:822
HP:0003271	Visceromegaly	6521	SLC4A1	ORPHA:822
HP:0003271	Visceromegaly	6710	SPTB	ORPHA:822
HP:0003271	Visceromegaly	6708	SPTA1	ORPHA:822
HP:0003271	Visceromegaly	286	ANK1	ORPHA:822
HP:0003271	Visceromegaly	54968	TMEM70	ORPHA:1194
HP:0003271	Visceromegaly	6341	SCO1	OMIM:619048
HP:0003271	Visceromegaly	2130	EWSR1	ORPHA:83469
HP:0003271	Visceromegaly	7490	WT1	ORPHA:83469
HP:0003271	Visceromegaly	6392	SDHD	OMIM:619167
HP:0003271	Visceromegaly	79947	DHDDS	OMIM:613861
HP:0003271	Visceromegaly	55788	LMBRD1	OMIM:277380
HP:0003271	Visceromegaly	10225	CD96	OMIM:211750
HP:0003271	Visceromegaly	30061	SLC40A1	OMIM:606069
HP:0003271	Visceromegaly	79631	EFL1	ORPHA:811
HP:0003271	Visceromegaly	79631	EFL1	OMIM:617941
HP:0003271	Visceromegaly	7535	ZAP70	OMIM:269840
HP:0003271	Visceromegaly	84987	COX14	OMIM:619053
HP:0003271	Visceromegaly	6005	RHAG	OMIM:185000
HP:0003271	Visceromegaly	1738	DLD	ORPHA:2394
HP:0003271	Visceromegaly	1738	DLD	OMIM:246900
HP:0003271	Visceromegaly	8647	ABCB11	OMIM:601847
HP:0003271	Visceromegaly	8647	ABCB11	OMIM:605479
HP:0003271	Visceromegaly	5699	PSMB10	OMIM:619175
HP:0003271	Visceromegaly	2538	G6PC1	OMIM:232200
HP:0003271	Visceromegaly	92579	G6PC3	OMIM:612541
HP:0003271	Visceromegaly	9927	MFN2	ORPHA:2398
HP:0003271	Visceromegaly	686	BTD	OMIM:253260
HP:0003271	Visceromegaly	8792	TNFRSF11A	OMIM:612301
HP:0003271	Visceromegaly	7132	TNFRSF1A	OMIM:142680
HP:0003271	Visceromegaly	208	AKT2	ORPHA:79085
HP:0003271	Visceromegaly	55858	TMEM165	OMIM:614727
HP:0003271	Visceromegaly	7840	ALMS1	OMIM:203800
HP:0003271	Visceromegaly	7840	ALMS1	ORPHA:64
HP:0003271	Visceromegaly	8546	AP3B1	OMIM:608233
HP:0003271	Visceromegaly	5313	PKLR	OMIM:266200
HP:0003271	Visceromegaly	56984	PSMG2	OMIM:619183
HP:0003271	Visceromegaly	1717	DHCR7	OMIM:270400
HP:0003271	Visceromegaly	23116	TOGARAM1	OMIM:619185
HP:0003271	Visceromegaly	9377	COX5A	OMIM:619064
HP:0003271	Visceromegaly	4591	TRIM37	OMIM:253250
HP:0003271	Visceromegaly	4591	TRIM37	ORPHA:2576
HP:0003271	Visceromegaly	23230	VPS13A	ORPHA:2388
HP:0003271	Visceromegaly	63894	VIPAS39	OMIM:613404
HP:0003271	Visceromegaly	79053	ALG8	OMIM:608104
HP:0003271	Visceromegaly	526	ATP6V1B2	ORPHA:3473
HP:0003271	Visceromegaly	3782	KCNN3	ORPHA:3473
HP:0003271	Visceromegaly	3425	IDUA	OMIM:607014
HP:0003271	Visceromegaly	3425	IDUA	OMIM:607015
HP:0003271	Visceromegaly	3425	IDUA	ORPHA:93474
HP:0003271	Visceromegaly	3425	IDUA	ORPHA:93473
HP:0003271	Visceromegaly	3425	IDUA	ORPHA:93476
HP:0003271	Visceromegaly	175	AGA	ORPHA:93
HP:0003271	Visceromegaly	175	AGA	OMIM:208400
HP:0003271	Visceromegaly	4853	NOTCH2	ORPHA:955
HP:0003271	Visceromegaly	374393	FAM111B	OMIM:615704
HP:0003271	Visceromegaly	338328	GPIHBP1	OMIM:615947
HP:0003271	Visceromegaly	4069	LYZ	OMIM:105200
HP:0003271	Visceromegaly	2243	FGA	OMIM:105200
HP:0003271	Visceromegaly	335	APOA1	OMIM:105200
HP:0003271	Visceromegaly	567	B2M	OMIM:105200
HP:0003271	Visceromegaly	1798	DPAGT1	ORPHA:86309
HP:0003271	Visceromegaly	5091	PC	OMIM:266150
HP:0003271	Visceromegaly	4607	MYBPC3	OMIM:115197
HP:0003271	Visceromegaly	51660	MPC1	OMIM:614741
HP:0003271	Visceromegaly	3991	LIPE	ORPHA:435660
HP:0003271	Visceromegaly	4519	MT-CYB	ORPHA:137675
HP:0003271	Visceromegaly	5265	SERPINA1	ORPHA:60
HP:0003271	Visceromegaly	5428	POLG	OMIM:203700
HP:0003271	Visceromegaly	23600	AMACR	OMIM:214950
HP:0003271	Visceromegaly	9719	ADAMTSL2	OMIM:231050
HP:0003271	Visceromegaly	91147	TMEM67	OMIM:607361
HP:0003271	Visceromegaly	91147	TMEM67	OMIM:216360
HP:0003271	Visceromegaly	91147	TMEM67	ORPHA:1454
HP:0003271	Visceromegaly	6609	SMPD1	OMIM:257200
HP:0003271	Visceromegaly	6609	SMPD1	ORPHA:77293
HP:0003271	Visceromegaly	6609	SMPD1	OMIM:607616
HP:0003271	Visceromegaly	2624	GATA2	ORPHA:3226
HP:0003271	Visceromegaly	2548	GAA	ORPHA:308552
HP:0003271	Visceromegaly	2548	GAA	OMIM:232300
HP:0003271	Visceromegaly	6288	SAA1	ORPHA:85445
HP:0003271	Visceromegaly	64135	IFIH1	OMIM:615846
HP:0003271	Visceromegaly	10165	SLC25A13	ORPHA:247598
HP:0003271	Visceromegaly	10165	SLC25A13	ORPHA:247585
HP:0003271	Visceromegaly	3662	IRF4	ORPHA:3452
HP:0003271	Visceromegaly	388015	RTL1	ORPHA:96334
HP:0003271	Visceromegaly	8788	DLK1	ORPHA:96334
HP:0003271	Visceromegaly	55384	MEG3	ORPHA:96334
HP:0003271	Visceromegaly	3911	LAMA5	OMIM:620076
HP:0003271	Visceromegaly	55343	SLC35C1	ORPHA:99843
HP:0003271	Visceromegaly	8314	BAP1	ORPHA:50251
HP:0003271	Visceromegaly	1028	CDKN1C	OMIM:130650
HP:0003271	Visceromegaly	10984	KCNQ1OT1	OMIM:130650
HP:0003271	Visceromegaly	3481	IGF2	OMIM:130650
HP:0003271	Visceromegaly	3784	KCNQ1	OMIM:130650
HP:0003271	Visceromegaly	162417	NAGS	ORPHA:927
HP:0003271	Visceromegaly	57817	HAMP	OMIM:613313
HP:0003271	Visceromegaly	445	ASS1	OMIM:215700
HP:0003271	Visceromegaly	84317	CCDC115	OMIM:616828
HP:0003271	Visceromegaly	28962	OSTM1	OMIM:259720
HP:0003271	Visceromegaly	10568	SLC34A2	ORPHA:60025
HP:0003271	Visceromegaly	51067	YARS2	OMIM:613561
HP:0003271	Visceromegaly	93183	PIGM	OMIM:610293
HP:0003271	Visceromegaly	7351	UCP2	ORPHA:276556
HP:0003271	Visceromegaly	57410	SCYL1	OMIM:616719
HP:0003271	Visceromegaly	6888	TALDO1	OMIM:606003
HP:0003271	Visceromegaly	56052	ALG1	OMIM:608540
HP:0003271	Visceromegaly	4054	LTBP3	OMIM:617809
HP:0003271	Visceromegaly	10159	ATP6AP2	OMIM:301045
HP:0003271	Visceromegaly	26160	IFT172	OMIM:615630
HP:0003271	Visceromegaly	84529	CDIN1	OMIM:615631
HP:0003271	Visceromegaly	11133	KPTN	OMIM:615637
HP:0003271	Visceromegaly	6948	TCN2	OMIM:275350
HP:0003271	Visceromegaly	5156	PDGFRA	OMIM:607685
HP:0003271	Visceromegaly	1776	DNASE1L3	ORPHA:36412
HP:0003271	Visceromegaly	9780	PIEZO1	OMIM:194380
HP:0003271	Visceromegaly	4173	MCM4	OMIM:609981
HP:0003271	Visceromegaly	411	ARSB	OMIM:253200
HP:0003271	Visceromegaly	55593	OTUD5	OMIM:301056
HP:0003271	Visceromegaly	3074	HEXB	OMIM:268800
HP:0003271	Visceromegaly	549	AUH	ORPHA:67046
HP:0003271	Visceromegaly	10525	HYOU1	OMIM:233600
HP:0003271	Visceromegaly	4792	NFKBIA	OMIM:612132
HP:0003271	Visceromegaly	169792	GLIS3	OMIM:610199
HP:0003271	Visceromegaly	6513	SLC2A1	OMIM:608885
HP:0003271	Visceromegaly	9076	CLDN1	ORPHA:59303
HP:0003271	Visceromegaly	9076	CLDN1	OMIM:607626
HP:0003271	Visceromegaly	6833	ABCC8	ORPHA:276575
HP:0003271	Visceromegaly	3767	KCNJ11	ORPHA:276580
HP:0003271	Visceromegaly	7547	ZIC3	OMIM:306955
HP:0003271	Visceromegaly	9663	LPIN2	ORPHA:77297
HP:0003271	Visceromegaly	51218	GLRX5	OMIM:616860
HP:0003271	Visceromegaly	6097	RORC	OMIM:616622
HP:0003271	Visceromegaly	26007	TKFC	OMIM:618805
HP:0003271	Visceromegaly	4358	MPV17	OMIM:256810
HP:0003271	Visceromegaly	10616	RBCK1	OMIM:615895
HP:0003271	Visceromegaly	6663	SOX10	ORPHA:163746
HP:0003271	Visceromegaly	708	C1QBP	OMIM:617713
HP:0003271	Visceromegaly	284086	NEK8	OMIM:615415
HP:0003271	Visceromegaly	3431	SP110	ORPHA:79124
HP:0003271	Visceromegaly	3248	HPGD	ORPHA:2796
HP:0003271	Visceromegaly	6578	SLCO2A1	ORPHA:2796
HP:0003271	Visceromegaly	55764	IFT122	OMIM:218330
HP:0003271	Visceromegaly	91647	ATPAF2	OMIM:604273
HP:0003271	Visceromegaly	84061	MAGT1	OMIM:301031
HP:0003271	Visceromegaly	57511	COG6	OMIM:614576
HP:0003271	Visceromegaly	427	ASAH1	OMIM:228000
HP:0003271	Visceromegaly	56623	INPP5E	ORPHA:1454
HP:0003271	Visceromegaly	23322	RPGRIP1L	ORPHA:1454
HP:0003271	Visceromegaly	57545	CC2D2A	ORPHA:1454
HP:0003271	Visceromegaly	55210	ATAD3A	OMIM:618810
HP:0003271	Visceromegaly	25839	COG4	OMIM:613489
HP:0003271	Visceromegaly	326625	MMAB	OMIM:251110
HP:0003271	Visceromegaly	5873	RAB27A	ORPHA:79477
HP:0003271	Visceromegaly	760	CA2	ORPHA:2785
HP:0003271	Visceromegaly	2584	GALK1	ORPHA:79237
HP:0003271	Visceromegaly	9997	SCO2	OMIM:604377
HP:0003271	Visceromegaly	10367	MICU1	OMIM:615673
HP:0003271	Visceromegaly	3702	ITK	OMIM:613011
HP:0003271	Visceromegaly	11222	MRPL3	OMIM:614582
HP:0003271	Visceromegaly	2588	GALNS	OMIM:253000
HP:0003271	Visceromegaly	975	CD81	OMIM:613496
HP:0003271	Visceromegaly	51520	LARS1	OMIM:615438
HP:0003271	Visceromegaly	5205	ATP8B1	OMIM:211600
HP:0003271	Visceromegaly	5205	ATP8B1	OMIM:243300
HP:0003271	Visceromegaly	2065	ERBB3	OMIM:133180
HP:0003271	Visceromegaly	26047	CNTNAP2	ORPHA:163681
HP:0003271	Visceromegaly	200894	ARL13B	OMIM:612291
HP:0003271	Visceromegaly	27031	NPHP3	OMIM:208540
HP:0003271	Visceromegaly	100151683	RNU4ATAC	OMIM:616651
HP:0003271	Visceromegaly	83737	ITCH	OMIM:613385
HP:0003271	Visceromegaly	51816	ADA2	OMIM:615688
HP:0003271	Visceromegaly	28957	MRPS28	OMIM:618958
HP:0003271	Visceromegaly	3931	LCAT	ORPHA:79292
HP:0003271	Visceromegaly	100506658	OCLN	OMIM:251290
HP:0003271	Visceromegaly	27232	GNMT	OMIM:606664
HP:0003271	Visceromegaly	10577	NPC2	OMIM:607625
HP:0003271	Visceromegaly	2819	GPD1	OMIM:614480
HP:0003271	Visceromegaly	51081	MRPS7	OMIM:617872
HP:0003271	Visceromegaly	26503	SLC17A5	OMIM:269920
HP:0003271	Visceromegaly	178	AGL	OMIM:232400
HP:0003271	Visceromegaly	2990	GUSB	OMIM:253220
HP:0003271	Visceromegaly	4668	NAGA	ORPHA:79281
HP:0003271	Visceromegaly	4668	NAGA	ORPHA:79279
HP:0003271	Visceromegaly	2639	GCDH	OMIM:231670
HP:0003271	Visceromegaly	8737	RIPK1	OMIM:618852
HP:0003271	Visceromegaly	80169	CTC1	ORPHA:1775
HP:0003271	Visceromegaly	26277	TINF2	ORPHA:1775
HP:0003271	Visceromegaly	55651	NHP2	ORPHA:1775
HP:0003271	Visceromegaly	79650	USB1	ORPHA:1775
HP:0003271	Visceromegaly	55135	WRAP53	ORPHA:1775
HP:0003271	Visceromegaly	51750	RTEL1	ORPHA:1775
HP:0003271	Visceromegaly	4869	NPM1	ORPHA:1775
HP:0003271	Visceromegaly	7012	TERC	ORPHA:1775
HP:0003271	Visceromegaly	55505	NOP10	ORPHA:1775
HP:0003271	Visceromegaly	5073	PARN	ORPHA:1775
HP:0003271	Visceromegaly	7015	TERT	ORPHA:1775
HP:0003271	Visceromegaly	1736	DKC1	ORPHA:1775
HP:0003271	Visceromegaly	7298	TYMS	ORPHA:1775
HP:0003271	Visceromegaly	57728	WDR19	OMIM:614376
HP:0003271	Visceromegaly	3636	INPPL1	ORPHA:2746
HP:0003271	Visceromegaly	1794	DOCK2	OMIM:616433
HP:0003271	Visceromegaly	2108	ETFA	OMIM:231680
HP:0003271	Visceromegaly	2109	ETFB	OMIM:231680
HP:0003271	Visceromegaly	2110	ETFDH	OMIM:231680
HP:0003271	Visceromegaly	2582	GALE	OMIM:230350
HP:0003271	Visceromegaly	5476	CTSA	OMIM:256540
HP:0003271	Visceromegaly	7174	TPP2	OMIM:619220
HP:0003272	Abnormal hip bone morphology	28981	IFT81	OMIM:617895
HP:0003272	Abnormal hip bone morphology	6223	RPS19	OMIM:105650
HP:0003272	Abnormal hip bone morphology	5130	PCYT1A	ORPHA:85167
HP:0003272	Abnormal hip bone morphology	9361	LONP1	OMIM:600373
HP:0003272	Abnormal hip bone morphology	9361	LONP1	ORPHA:1458
HP:0003272	Abnormal hip bone morphology	6261	RYR1	ORPHA:597
HP:0003272	Abnormal hip bone morphology	6261	RYR1	OMIM:117000
HP:0003272	Abnormal hip bone morphology	64840	PORCN	OMIM:305600
HP:0003272	Abnormal hip bone morphology	6628	SNRPB	OMIM:117650
HP:0003272	Abnormal hip bone morphology	9759	HDAC4	OMIM:619797
HP:0003272	Abnormal hip bone morphology	5351	PLOD1	OMIM:225400
HP:0003272	Abnormal hip bone morphology	134218	DNAJC21	OMIM:617052
HP:0003272	Abnormal hip bone morphology	1182	CLCN3	OMIM:619512
HP:0003272	Abnormal hip bone morphology	63895	PIEZO2	OMIM:114300
HP:0003272	Abnormal hip bone morphology	2138	EYA1	OMIM:113650
HP:0003272	Abnormal hip bone morphology	6495	SIX1	OMIM:113650
HP:0003272	Abnormal hip bone morphology	84627	ZNF469	OMIM:229200
HP:0003272	Abnormal hip bone morphology	55699	IARS2	OMIM:616007
HP:0003272	Abnormal hip bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0003272	Abnormal hip bone morphology	7531	YWHAE	ORPHA:217385
HP:0003272	Abnormal hip bone morphology	6885	MAP3K7	OMIM:617137
HP:0003272	Abnormal hip bone morphology	9820	CUL7	ORPHA:2616
HP:0003272	Abnormal hip bone morphology	23363	OBSL1	ORPHA:2616
HP:0003272	Abnormal hip bone morphology	83987	CCDC8	ORPHA:2616
HP:0003272	Abnormal hip bone morphology	8239	USP9X	ORPHA:480880
HP:0003272	Abnormal hip bone morphology	8195	MKKS	OMIM:236700
HP:0003272	Abnormal hip bone morphology	1131	CHRM3	ORPHA:2970
HP:0003272	Abnormal hip bone morphology	1131	CHRM3	OMIM:100100
HP:0003272	Abnormal hip bone morphology	10060	ABCC9	OMIM:619719
HP:0003272	Abnormal hip bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0003272	Abnormal hip bone morphology	23545	ATP6V0A2	ORPHA:357074
HP:0003272	Abnormal hip bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0003272	Abnormal hip bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0003272	Abnormal hip bone morphology	9401	RECQL4	OMIM:268400
HP:0003272	Abnormal hip bone morphology	89910	UBE3B	OMIM:244450
HP:0003272	Abnormal hip bone morphology	1723	DHODH	OMIM:263750
HP:0003272	Abnormal hip bone morphology	60482	SLC5A7	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	4649	MYO9A	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	1305	COL13A1	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	1103	CHAT	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	6576	SLC25A1	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	6843	VAMP1	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	375790	AGRN	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	127833	SYT2	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	6572	SLC18A3	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	6616	SNAP25	ORPHA:98914
HP:0003272	Abnormal hip bone morphology	5832	ALDH18A1	OMIM:219150
HP:0003272	Abnormal hip bone morphology	55768	NGLY1	ORPHA:404454
HP:0003272	Abnormal hip bone morphology	2316	FLNA	OMIM:304120
HP:0003272	Abnormal hip bone morphology	2273	FHL1	OMIM:300280
HP:0003272	Abnormal hip bone morphology	7169	TPM2	OMIM:108120
HP:0003272	Abnormal hip bone morphology	7169	TPM2	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	6904	TBCD	ORPHA:496641
HP:0003272	Abnormal hip bone morphology	7547	ZIC3	OMIM:306955
HP:0003272	Abnormal hip bone morphology	3835	KIF22	OMIM:603546
HP:0003272	Abnormal hip bone morphology	2239	GPC4	ORPHA:373
HP:0003272	Abnormal hip bone morphology	2719	GPC3	ORPHA:373
HP:0003272	Abnormal hip bone morphology	7476	WNT7A	OMIM:228930
HP:0003272	Abnormal hip bone morphology	1290	COL5A2	OMIM:130010
HP:0003272	Abnormal hip bone morphology	523	ATP6V1A	ORPHA:357074
HP:0003272	Abnormal hip bone morphology	529	ATP6V1E1	ORPHA:357074
HP:0003272	Abnormal hip bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0003272	Abnormal hip bone morphology	5528	PPP2R5D	OMIM:616355
HP:0003272	Abnormal hip bone morphology	8260	NAA10	OMIM:300855
HP:0003272	Abnormal hip bone morphology	50814	NSDHL	OMIM:308050
HP:0003272	Abnormal hip bone morphology	23522	KAT6B	OMIM:606170
HP:0003272	Abnormal hip bone morphology	5831	PYCR1	OMIM:612940
HP:0003272	Abnormal hip bone morphology	50628	GEMIN4	OMIM:617913
HP:0003272	Abnormal hip bone morphology	3339	HSPG2	OMIM:255800
HP:0003272	Abnormal hip bone morphology	6913	TBX15	ORPHA:93333
HP:0003272	Abnormal hip bone morphology	9896	FIG4	OMIM:216340
HP:0003272	Abnormal hip bone morphology	23299	BICD2	OMIM:618291
HP:0003272	Abnormal hip bone morphology	22827	PUF60	ORPHA:508488
HP:0003272	Abnormal hip bone morphology	1281	COL3A1	ORPHA:286
HP:0003272	Abnormal hip bone morphology	57190	SELENON	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	58	ACTA1	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	4633	MYL2	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	3679	ITGA7	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	9200	HACD1	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	7170	TPM3	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	7170	TPM3	OMIM:255310
HP:0003272	Abnormal hip bone morphology	51776	MAP3K20	ORPHA:2020
HP:0003272	Abnormal hip bone morphology	51651	PTRH2	ORPHA:456312
HP:0003272	Abnormal hip bone morphology	9427	ECEL1	OMIM:615065
HP:0003272	Abnormal hip bone morphology	7067	THRA	OMIM:614450
HP:0003272	Abnormal hip bone morphology	8085	KMT2D	OMIM:147920
HP:0003272	Abnormal hip bone morphology	7403	KDM6A	OMIM:147920
HP:0003272	Abnormal hip bone morphology	8838	CCN6	ORPHA:1159
HP:0003272	Abnormal hip bone morphology	6775	STAT4	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	3560	IL2RB	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	79722	ANKRD55	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	26191	PTPN22	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	919	CD247	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	3559	IL2RA	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	5771	PTPN2	ORPHA:85408
HP:0003272	Abnormal hip bone morphology	5167	ENPP1	ORPHA:51608
HP:0003272	Abnormal hip bone morphology	368	ABCC6	ORPHA:51608
HP:0003272	Abnormal hip bone morphology	4625	MYH7	ORPHA:324604
HP:0003272	Abnormal hip bone morphology	8243	SMC1A	OMIM:301044
HP:0003272	Abnormal hip bone morphology	8243	SMC1A	ORPHA:199
HP:0003272	Abnormal hip bone morphology	56896	DPYSL5	OMIM:619435
HP:0003272	Abnormal hip bone morphology	10054	UBA2	OMIM:619959
HP:0003272	Abnormal hip bone morphology	60684	TRAPPC11	OMIM:615356
HP:0003272	Abnormal hip bone morphology	55777	MBD5	ORPHA:228402
HP:0003272	Abnormal hip bone morphology	55777	MBD5	OMIM:156200
HP:0003272	Abnormal hip bone morphology	7681	MKRN3	OMIM:176270
HP:0003272	Abnormal hip bone morphology	3653	IPW	OMIM:176270
HP:0003272	Abnormal hip bone morphology	54551	MAGEL2	OMIM:176270
HP:0003272	Abnormal hip bone morphology	54551	MAGEL2	ORPHA:177904
HP:0003272	Abnormal hip bone morphology	54551	MAGEL2	ORPHA:177901
HP:0003272	Abnormal hip bone morphology	54551	MAGEL2	ORPHA:398069
HP:0003272	Abnormal hip bone morphology	54551	MAGEL2	ORPHA:98754
HP:0003272	Abnormal hip bone morphology	791114	PWRN1	OMIM:176270
HP:0003272	Abnormal hip bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0003272	Abnormal hip bone morphology	8924	HERC2	OMIM:176270
HP:0003272	Abnormal hip bone morphology	145624	PWAR1	OMIM:176270
HP:0003272	Abnormal hip bone morphology	23742	NPAP1	OMIM:176270
HP:0003272	Abnormal hip bone morphology	338433	SNORD115-1	OMIM:176270
HP:0003272	Abnormal hip bone morphology	4148	MATN3	ORPHA:93311
HP:0003272	Abnormal hip bone morphology	3190	HNRNPK	ORPHA:453504
HP:0003272	Abnormal hip bone morphology	3190	HNRNPK	OMIM:616580
HP:0003272	Abnormal hip bone morphology	3190	HNRNPK	ORPHA:352665
HP:0003272	Abnormal hip bone morphology	4784	NFIX	ORPHA:447980
HP:0003272	Abnormal hip bone morphology	4784	NFIX	OMIM:602535
HP:0003272	Abnormal hip bone morphology	7372	UMPS	ORPHA:30
HP:0003272	Abnormal hip bone morphology	80232	WDR26	ORPHA:513456
HP:0003272	Abnormal hip bone morphology	10847	SRCAP	OMIM:136140
HP:0003272	Abnormal hip bone morphology	10847	SRCAP	ORPHA:2044
HP:0003272	Abnormal hip bone morphology	473	RERE	OMIM:616975
HP:0003272	Abnormal hip bone morphology	473	RERE	ORPHA:494344
HP:0003272	Abnormal hip bone morphology	473	RERE	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	478	ATP1A3	OMIM:619606
HP:0003272	Abnormal hip bone morphology	6492	SIM1	ORPHA:398079
HP:0003272	Abnormal hip bone morphology	2033	EP300	ORPHA:353284
HP:0003272	Abnormal hip bone morphology	3097	HIVEP2	OMIM:616977
HP:0003272	Abnormal hip bone morphology	23729	SHPK	ORPHA:440713
HP:0003272	Abnormal hip bone morphology	6595	SMARCA2	OMIM:619293
HP:0003272	Abnormal hip bone morphology	1300	COL10A1	ORPHA:174
HP:0003272	Abnormal hip bone morphology	6638	SNRPN	ORPHA:177904
HP:0003272	Abnormal hip bone morphology	6638	SNRPN	ORPHA:177901
HP:0003272	Abnormal hip bone morphology	6638	SNRPN	ORPHA:98754
HP:0003272	Abnormal hip bone morphology	4692	NDN	ORPHA:177904
HP:0003272	Abnormal hip bone morphology	4692	NDN	ORPHA:177901
HP:0003272	Abnormal hip bone morphology	4692	NDN	ORPHA:98754
HP:0003272	Abnormal hip bone morphology	4948	OCA2	ORPHA:177904
HP:0003272	Abnormal hip bone morphology	4948	OCA2	ORPHA:177901
HP:0003272	Abnormal hip bone morphology	4948	OCA2	ORPHA:98754
HP:0003272	Abnormal hip bone morphology	84720	PIGO	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	93210	PGAP3	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	284098	PIGW	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	27315	PGAP2	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	55650	PIGV	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	9487	PIGL	ORPHA:247262
HP:0003272	Abnormal hip bone morphology	153642	ARSK	OMIM:619698
HP:0003272	Abnormal hip bone morphology	10265	IRX5	OMIM:611174
HP:0003272	Abnormal hip bone morphology	3423	IDS	ORPHA:217085
HP:0003272	Abnormal hip bone morphology	3423	IDS	ORPHA:217093
HP:0003272	Abnormal hip bone morphology	9719	ADAMTSL2	ORPHA:1901
HP:0003272	Abnormal hip bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0003272	Abnormal hip bone morphology	55325	UFSP2	OMIM:142669
HP:0003272	Abnormal hip bone morphology	55325	UFSP2	ORPHA:2114
HP:0003272	Abnormal hip bone morphology	26276	VPS33B	OMIM:208085
HP:0003272	Abnormal hip bone morphology	11342	RNF13	OMIM:618379
HP:0003272	Abnormal hip bone morphology	11342	RNF13	ORPHA:544503
HP:0003272	Abnormal hip bone morphology	1822	ATN1	OMIM:618494
HP:0003272	Abnormal hip bone morphology	57511	COG6	OMIM:614576
HP:0003272	Abnormal hip bone morphology	51199	NIN	OMIM:614851
HP:0003272	Abnormal hip bone morphology	51199	NIN	ORPHA:319675
HP:0003272	Abnormal hip bone morphology	55012	PPP2R3C	OMIM:618419
HP:0003272	Abnormal hip bone morphology	63894	VIPAS39	OMIM:613404
HP:0003272	Abnormal hip bone morphology	57187	THOC2	ORPHA:457240
HP:0003272	Abnormal hip bone morphology	53834	FGFRL1	OMIM:194190
HP:0003272	Abnormal hip bone morphology	1487	CTBP1	OMIM:194190
HP:0003272	Abnormal hip bone morphology	3954	LETM1	OMIM:194190
HP:0003272	Abnormal hip bone morphology	7468	NSD2	OMIM:194190
HP:0003272	Abnormal hip bone morphology	10815	CPLX1	OMIM:194190
HP:0003272	Abnormal hip bone morphology	64374	SIL1	ORPHA:559
HP:0003272	Abnormal hip bone morphology	51763	INPP5K	ORPHA:559
HP:0003272	Abnormal hip bone morphology	23476	BRD4	ORPHA:199
HP:0003272	Abnormal hip bone morphology	9126	SMC3	ORPHA:199
HP:0003272	Abnormal hip bone morphology	25836	NIPBL	ORPHA:199
HP:0003272	Abnormal hip bone morphology	55869	HDAC8	ORPHA:199
HP:0003272	Abnormal hip bone morphology	5885	RAD21	ORPHA:199
HP:0003272	Abnormal hip bone morphology	50801	KCNK4	OMIM:618381
HP:0003272	Abnormal hip bone morphology	538	ATP7A	ORPHA:198
HP:0003272	Abnormal hip bone morphology	5518	PPP2R1A	OMIM:616362
HP:0003272	Abnormal hip bone morphology	5518	PPP2R1A	ORPHA:457284
HP:0003272	Abnormal hip bone morphology	7874	USP7	ORPHA:500055
HP:0003272	Abnormal hip bone morphology	57003	CCDC47	OMIM:618268
HP:0003272	Abnormal hip bone morphology	10526	IPO8	OMIM:619472
HP:0003272	Abnormal hip bone morphology	1857	DVL3	ORPHA:3107
HP:0003272	Abnormal hip bone morphology	7474	WNT5A	ORPHA:3107
HP:0003272	Abnormal hip bone morphology	1855	DVL1	ORPHA:3107
HP:0003272	Abnormal hip bone morphology	2535	FZD2	ORPHA:3107
HP:0003272	Abnormal hip bone morphology	23233	EXOC6B	ORPHA:93359
HP:0003272	Abnormal hip bone morphology	2122	MECOM	ORPHA:71289
HP:0003272	Abnormal hip bone morphology	3207	HOXA11	ORPHA:71289
HP:0003272	Abnormal hip bone morphology	5590	PRKCZ	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	2563	GABRD	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	23013	SPEN	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	8510	MMP23B	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	7798	LUZP1	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	6497	SKI	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	10630	PDPN	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	10277	UBE4B	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	8514	KCNAB2	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	63976	PRDM16	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	54897	CASZ1	ORPHA:1606
HP:0003272	Abnormal hip bone morphology	81031	SLC2A10	ORPHA:3342
HP:0003272	Abnormal hip bone morphology	80036	TRPM3	OMIM:620224
HP:0003272	Abnormal hip bone morphology	2131	EXT1	ORPHA:502
HP:0003272	Abnormal hip bone morphology	55027	HEATR3	OMIM:620072
HP:0003272	Abnormal hip bone morphology	10236	HNRNPR	OMIM:620073
HP:0003272	Abnormal hip bone morphology	55210	ATAD3A	ORPHA:496790
HP:0003272	Abnormal hip bone morphology	55210	ATAD3A	OMIM:617183
HP:0003272	Abnormal hip bone morphology	1298	COL9A2	OMIM:600204
HP:0003272	Abnormal hip bone morphology	8314	BAP1	OMIM:619762
HP:0003272	Abnormal hip bone morphology	6872	TAF1	OMIM:300966
HP:0003272	Abnormal hip bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0003272	Abnormal hip bone morphology	54928	BPNT2	OMIM:614078
HP:0003272	Abnormal hip bone morphology	29123	ANKRD11	ORPHA:261250
HP:0003272	Abnormal hip bone morphology	4849	CNOT3	OMIM:618672
HP:0003272	Abnormal hip bone morphology	200424	TET3	OMIM:618798
HP:0003272	Abnormal hip bone morphology	1277	COL1A1	OMIM:166200
HP:0003272	Abnormal hip bone morphology	1277	COL1A1	ORPHA:1899
HP:0003272	Abnormal hip bone morphology	2799	GNS	OMIM:252940
HP:0003272	Abnormal hip bone morphology	10667	FARS2	ORPHA:466722
HP:0003272	Abnormal hip bone morphology	11128	POLR3A	ORPHA:3455
HP:0003272	Abnormal hip bone morphology	11107	PRDM5	ORPHA:90354
HP:0003272	Abnormal hip bone morphology	7030	TFE3	OMIM:301066
HP:0003272	Abnormal hip bone morphology	55898	UNC45A	OMIM:619377
HP:0003272	Abnormal hip bone morphology	9968	MED12	OMIM:300895
HP:0003272	Abnormal hip bone morphology	55023	PHIP	OMIM:617991
HP:0003272	Abnormal hip bone morphology	51780	KDM3B	OMIM:618846
HP:0003272	Abnormal hip bone morphology	1387	CREBBP	ORPHA:353277
HP:0003272	Abnormal hip bone morphology	1387	CREBBP	OMIM:618332
HP:0003272	Abnormal hip bone morphology	203190	LGI3	OMIM:620007
HP:0003272	Abnormal hip bone morphology	284058	KANSL1	OMIM:610443
HP:0003272	Abnormal hip bone morphology	545	ATR	ORPHA:808
HP:0003272	Abnormal hip bone morphology	1062	CENPE	ORPHA:808
HP:0003272	Abnormal hip bone morphology	5116	PCNT	ORPHA:808
HP:0003272	Abnormal hip bone morphology	5932	RBBP8	ORPHA:808
HP:0003272	Abnormal hip bone morphology	79902	NUP85	ORPHA:808
HP:0003272	Abnormal hip bone morphology	84126	ATRIP	ORPHA:808
HP:0003272	Abnormal hip bone morphology	55835	CENPJ	ORPHA:808
HP:0003272	Abnormal hip bone morphology	10293	TRAIP	ORPHA:808
HP:0003272	Abnormal hip bone morphology	22995	CEP152	ORPHA:808
HP:0003272	Abnormal hip bone morphology	10733	PLK4	ORPHA:808
HP:0003272	Abnormal hip bone morphology	5557	PRIM1	OMIM:620005
HP:0003272	Abnormal hip bone morphology	64432	MRPS25	OMIM:619025
HP:0003272	Abnormal hip bone morphology	57728	WDR19	OMIM:614378
HP:0003272	Abnormal hip bone morphology	51053	GMNN	OMIM:616835
HP:0003272	Abnormal hip bone morphology	79628	SH3TC2	ORPHA:99949
HP:0003272	Abnormal hip bone morphology	1642	DDB1	OMIM:619426
HP:0003272	Abnormal hip bone morphology	55753	OGDHL	OMIM:619701
HP:0003272	Abnormal hip bone morphology	9230	RAB11B	OMIM:617807
HP:0003272	Abnormal hip bone morphology	1278	COL1A2	ORPHA:1899
HP:0003272	Abnormal hip bone morphology	2737	GLI3	ORPHA:93322
HP:0003272	Abnormal hip bone morphology	4322	MMP13	ORPHA:2501
HP:0003272	Abnormal hip bone morphology	55703	POLR3B	OMIM:614381
HP:0003272	Abnormal hip bone morphology	10262	SF3B4	OMIM:154400
HP:0003272	Abnormal hip bone morphology	1291	COL6A1	OMIM:254090
HP:0003272	Abnormal hip bone morphology	1291	COL6A1	ORPHA:75840
HP:0003272	Abnormal hip bone morphology	1292	COL6A2	OMIM:254090
HP:0003272	Abnormal hip bone morphology	1292	COL6A2	ORPHA:75840
HP:0003272	Abnormal hip bone morphology	1293	COL6A3	OMIM:254090
HP:0003272	Abnormal hip bone morphology	1293	COL6A3	ORPHA:75840
HP:0003272	Abnormal hip bone morphology	579	NKX3-2	OMIM:613330
HP:0003272	Abnormal hip bone morphology	79796	ALG9	OMIM:608776
HP:0003272	Abnormal hip bone morphology	1303	COL12A1	ORPHA:75840
HP:0003272	Abnormal hip bone morphology	1303	COL12A1	OMIM:616471
HP:0003272	Abnormal hip bone morphology	2317	FLNB	ORPHA:56305
HP:0003272	Abnormal hip bone morphology	2317	FLNB	OMIM:150250
HP:0003272	Abnormal hip bone morphology	6662	SOX9	ORPHA:140
HP:0003272	Abnormal hip bone morphology	6662	SOX9	OMIM:114290
HP:0003272	Abnormal hip bone morphology	4703	NEB	ORPHA:171436
HP:0003272	Abnormal hip bone morphology	10324	KLHL41	ORPHA:171436
HP:0003272	Abnormal hip bone morphology	56203	LMOD3	ORPHA:171436
HP:0003272	Abnormal hip bone morphology	1073	CFL2	ORPHA:171436
HP:0003272	Abnormal hip bone morphology	55784	MCTP2	ORPHA:1596
HP:0003272	Abnormal hip bone morphology	16	AARS1	OMIM:616339
HP:0003272	Abnormal hip bone morphology	51010	EXOSC3	OMIM:614678
HP:0003272	Abnormal hip bone morphology	1717	DHCR7	ORPHA:818
HP:0003272	Abnormal hip bone morphology	1717	DHCR7	OMIM:270400
HP:0003272	Abnormal hip bone morphology	9915	ARNT2	OMIM:615926
HP:0003272	Abnormal hip bone morphology	10225	CD96	OMIM:211750
HP:0003272	Abnormal hip bone morphology	4626	MYH8	ORPHA:3377
HP:0003272	Abnormal hip bone morphology	4626	MYH8	OMIM:158300
HP:0003272	Abnormal hip bone morphology	4952	OCRL	ORPHA:534
HP:0003272	Abnormal hip bone morphology	4952	OCRL	OMIM:309000
HP:0003272	Abnormal hip bone morphology	2067	ERCC1	OMIM:610758
HP:0003272	Abnormal hip bone morphology	4038	LRP4	ORPHA:3258
HP:0003272	Abnormal hip bone morphology	324	APC	ORPHA:3258
HP:0003272	Abnormal hip bone morphology	2187	FANCB	ORPHA:3412
HP:0003272	Abnormal hip bone morphology	2187	FANCB	ORPHA:84
HP:0003272	Abnormal hip bone morphology	23499	MACF1	ORPHA:572013
HP:0003272	Abnormal hip bone morphology	387119	CEP85L	ORPHA:572013
HP:0003272	Abnormal hip bone morphology	64135	IFIH1	OMIM:182250
HP:0003272	Abnormal hip bone morphology	29925	GMPPB	ORPHA:370968
HP:0003272	Abnormal hip bone morphology	79147	FKRP	ORPHA:370968
HP:0003272	Abnormal hip bone morphology	29954	POMT2	ORPHA:370968
HP:0003272	Abnormal hip bone morphology	29954	POMT2	OMIM:613156
HP:0003272	Abnormal hip bone morphology	9215	LARGE1	ORPHA:370968
HP:0003272	Abnormal hip bone morphology	10585	POMT1	ORPHA:370968
HP:0003272	Abnormal hip bone morphology	1351	COX8A	OMIM:619059
HP:0003272	Abnormal hip bone morphology	2530	FUT8	OMIM:618005
HP:0003272	Abnormal hip bone morphology	4052	LTBP1	OMIM:619451
HP:0003272	Abnormal hip bone morphology	4052	LTBP1	ORPHA:90349
HP:0003272	Abnormal hip bone morphology	3899	AFF3	OMIM:619297
HP:0003272	Abnormal hip bone morphology	165	AEBP1	OMIM:618000
HP:0003272	Abnormal hip bone morphology	165	AEBP1	ORPHA:536532
HP:0003272	Abnormal hip bone morphology	3572	IL6ST	OMIM:618523
HP:0003272	Abnormal hip bone morphology	64131	XYLT1	OMIM:615777
HP:0003272	Abnormal hip bone morphology	29920	PYCR2	ORPHA:481152
HP:0003272	Abnormal hip bone morphology	672	BRCA1	ORPHA:84
HP:0003272	Abnormal hip bone morphology	10459	MAD2L2	ORPHA:84
HP:0003272	Abnormal hip bone morphology	7516	XRCC2	ORPHA:84
HP:0003272	Abnormal hip bone morphology	29089	UBE2T	ORPHA:84
HP:0003272	Abnormal hip bone morphology	675	BRCA2	ORPHA:84
HP:0003272	Abnormal hip bone morphology	55120	FANCL	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2177	FANCD2	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2175	FANCA	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2176	FANCC	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2178	FANCE	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2188	FANCF	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2189	FANCG	ORPHA:84
HP:0003272	Abnormal hip bone morphology	5888	RAD51	ORPHA:84
HP:0003272	Abnormal hip bone morphology	5889	RAD51C	ORPHA:84
HP:0003272	Abnormal hip bone morphology	55159	RFWD3	ORPHA:84
HP:0003272	Abnormal hip bone morphology	83990	BRIP1	ORPHA:84
HP:0003272	Abnormal hip bone morphology	57697	FANCM	ORPHA:84
HP:0003272	Abnormal hip bone morphology	79728	PALB2	ORPHA:84
HP:0003272	Abnormal hip bone morphology	84464	SLX4	ORPHA:84
HP:0003272	Abnormal hip bone morphology	2072	ERCC4	ORPHA:84
HP:0003272	Abnormal hip bone morphology	55215	FANCI	ORPHA:84
HP:0003272	Abnormal hip bone morphology	6678	SPARC	OMIM:616507
HP:0003272	Abnormal hip bone morphology	64093	SMOC1	ORPHA:1106
HP:0003272	Abnormal hip bone morphology	64093	SMOC1	OMIM:206920
HP:0003272	Abnormal hip bone morphology	25778	DSTYK	ORPHA:101003
HP:0003272	Abnormal hip bone morphology	1289	COL5A1	ORPHA:287
HP:0003272	Abnormal hip bone morphology	57531	HACE1	ORPHA:464282
HP:0003272	Abnormal hip bone morphology	57531	HACE1	OMIM:616756
HP:0003272	Abnormal hip bone morphology	2743	GLRB	ORPHA:3197
HP:0003272	Abnormal hip bone morphology	2741	GLRA1	ORPHA:3197
HP:0003272	Abnormal hip bone morphology	2741	GLRA1	OMIM:149400
HP:0003272	Abnormal hip bone morphology	10243	GPHN	ORPHA:3197
HP:0003272	Abnormal hip bone morphology	10243	GPHN	OMIM:149400
HP:0003272	Abnormal hip bone morphology	84896	ATAD1	ORPHA:3197
HP:0003272	Abnormal hip bone morphology	9152	SLC6A5	ORPHA:3197
HP:0003272	Abnormal hip bone morphology	55697	VAC14	ORPHA:3472
HP:0003272	Abnormal hip bone morphology	860	RUNX2	OMIM:119600
HP:0003272	Abnormal hip bone morphology	22872	SEC31A	OMIM:618651
HP:0003272	Abnormal hip bone morphology	26175	LYSET	OMIM:619345
HP:0003272	Abnormal hip bone morphology	9451	EIF2AK3	OMIM:226980
HP:0003272	Abnormal hip bone morphology	10682	EBP	ORPHA:35173
HP:0003272	Abnormal hip bone morphology	28514	DLL1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	28514	DLL1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	28514	DLL1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	28514	DLL1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	2253	FGF8	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	2253	FGF8	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	2253	FGF8	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	2253	FGF8	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	6496	SIX3	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	6496	SIX3	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	6496	SIX3	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	6496	SIX3	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	7050	TGIF1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	7050	TGIF1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	7050	TGIF1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	7050	TGIF1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	4838	NODAL	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	4838	NODAL	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	4838	NODAL	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	4838	NODAL	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	6469	SHH	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	6469	SHH	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	6469	SHH	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	6469	SHH	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	7546	ZIC2	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	7546	ZIC2	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	7546	ZIC2	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	7546	ZIC2	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	6491	STIL	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	6491	STIL	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	6491	STIL	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	6491	STIL	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	2619	GAS1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	2619	GAS1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	2619	GAS1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	2619	GAS1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	84976	DISP1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	84976	DISP1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	84976	DISP1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	84976	DISP1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	2736	GLI2	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	2736	GLI2	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	2736	GLI2	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	2736	GLI2	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	8928	FOXH1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	8928	FOXH1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	8928	FOXH1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	8928	FOXH1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	5727	PTCH1	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	5727	PTCH1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	5727	PTCH1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	5727	PTCH1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	50937	CDON	ORPHA:93926
HP:0003272	Abnormal hip bone morphology	50937	CDON	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	50937	CDON	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	50937	CDON	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	2260	FGFR1	ORPHA:93924
HP:0003272	Abnormal hip bone morphology	2260	FGFR1	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	23007	PLCH1	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	10735	STAG2	ORPHA:93925
HP:0003272	Abnormal hip bone morphology	10735	STAG2	ORPHA:220386
HP:0003272	Abnormal hip bone morphology	55644	OSGEP	OMIM:617729
HP:0003272	Abnormal hip bone morphology	2697	GJA1	OMIM:164200
HP:0003272	Abnormal hip bone morphology	2313	FLI1	ORPHA:2308
HP:0003272	Abnormal hip bone morphology	85301	COL27A1	OMIM:615155
HP:0003272	Abnormal hip bone morphology	1861	TOR1A	OMIM:618947
HP:0003272	Abnormal hip bone morphology	3098	HK1	OMIM:618547
HP:0003272	Abnormal hip bone morphology	6608	SMO	OMIM:241800
HP:0003272	Abnormal hip bone morphology	4796	TONSL	ORPHA:93357
HP:0003272	Abnormal hip bone morphology	145258	GSC	OMIM:602471
HP:0003272	Abnormal hip bone morphology	5728	PTEN	ORPHA:744
HP:0003272	Abnormal hip bone morphology	207	AKT1	ORPHA:744
HP:0003272	Abnormal hip bone morphology	6558	SLC12A2	OMIM:619083
HP:0003272	Abnormal hip bone morphology	10269	ZMPSTE24	ORPHA:740
HP:0003272	Abnormal hip bone morphology	78989	COLEC11	OMIM:265050
HP:0003272	Abnormal hip bone morphology	78989	COLEC11	ORPHA:293843
HP:0003272	Abnormal hip bone morphology	3251	HPRT1	OMIM:300322
HP:0003272	Abnormal hip bone morphology	51360	MBTPS2	OMIM:308205
HP:0003272	Abnormal hip bone morphology	113246	C12orf57	OMIM:218340
HP:0003272	Abnormal hip bone morphology	3187	HNRNPH1	OMIM:620083
HP:0003272	Abnormal hip bone morphology	2006	ELN	ORPHA:90348
HP:0003272	Abnormal hip bone morphology	10516	FBLN5	ORPHA:90348
HP:0003272	Abnormal hip bone morphology	10516	FBLN5	ORPHA:90349
HP:0003272	Abnormal hip bone morphology	30008	EFEMP2	ORPHA:90349
HP:0003272	Abnormal hip bone morphology	92344	GORAB	ORPHA:2078
HP:0003272	Abnormal hip bone morphology	10584	COLEC10	ORPHA:293843
HP:0003272	Abnormal hip bone morphology	5648	MASP1	ORPHA:293843
HP:0003272	Abnormal hip bone morphology	9939	RBM8A	ORPHA:3320
HP:0003272	Abnormal hip bone morphology	9939	RBM8A	OMIM:274000
HP:0003272	Abnormal hip bone morphology	9469	CHST3	OMIM:245600
HP:0003272	Abnormal hip bone morphology	26229	B3GAT3	OMIM:245600
HP:0003272	Abnormal hip bone morphology	81603	TRIM8	OMIM:619428
HP:0003272	Abnormal hip bone morphology	2074	ERCC6	OMIM:133540
HP:0003272	Abnormal hip bone morphology	2121	EVC	OMIM:225500
HP:0003272	Abnormal hip bone morphology	132884	EVC2	OMIM:225500
HP:0003272	Abnormal hip bone morphology	2335	FN1	ORPHA:93315
HP:0003272	Abnormal hip bone morphology	10013	HDAC6	ORPHA:163966
HP:0003272	Abnormal hip bone morphology	10013	HDAC6	OMIM:300863
HP:0003272	Abnormal hip bone morphology	2146	EZH2	OMIM:277590
HP:0003272	Abnormal hip bone morphology	147372	CCBE1	OMIM:235510
HP:0003272	Abnormal hip bone morphology	8726	EED	OMIM:617561
HP:0003272	Abnormal hip bone morphology	4089	SMAD4	OMIM:139210
HP:0003272	Abnormal hip bone morphology	2623	GATA1	OMIM:190685
HP:0003272	Abnormal hip bone morphology	54101	RIPK4	OMIM:263650
HP:0003272	Abnormal hip bone morphology	388015	RTL1	ORPHA:96334
HP:0003272	Abnormal hip bone morphology	8788	DLK1	ORPHA:96334
HP:0003272	Abnormal hip bone morphology	55384	MEG3	ORPHA:96334
HP:0003272	Abnormal hip bone morphology	23556	PIGN	OMIM:614080
HP:0003272	Abnormal hip bone morphology	6197	RPS6KA3	OMIM:303600
HP:0003272	Abnormal hip bone morphology	6197	RPS6KA3	ORPHA:192
HP:0003272	Abnormal hip bone morphology	9871	SEC24D	OMIM:616294
HP:0003272	Abnormal hip bone morphology	1513	CTSK	OMIM:265800
HP:0003272	Abnormal hip bone morphology	54187	NANS	OMIM:610442
HP:0003272	Abnormal hip bone morphology	5830	PEX5	OMIM:616716
HP:0003272	Abnormal hip bone morphology	4921	DDR2	OMIM:271665
HP:0003272	Abnormal hip bone morphology	84572	GNPTG	OMIM:252605
HP:0003272	Abnormal hip bone morphology	9131	AIFM1	OMIM:300232
HP:0003272	Abnormal hip bone morphology	5251	PHEX	ORPHA:89936
HP:0003272	Abnormal hip bone morphology	3549	IHH	ORPHA:63446
HP:0003272	Abnormal hip bone morphology	3549	IHH	OMIM:607778
HP:0003272	Abnormal hip bone morphology	633	BGN	OMIM:300106
HP:0003272	Abnormal hip bone morphology	9321	TRIP11	OMIM:184260
HP:0003272	Abnormal hip bone morphology	51715	RAB23	OMIM:201000
HP:0003272	Abnormal hip bone morphology	3425	IDUA	OMIM:607014
HP:0003272	Abnormal hip bone morphology	2879	GPX4	OMIM:250220
HP:0003272	Abnormal hip bone morphology	79848	CSPP1	ORPHA:397715
HP:0003272	Abnormal hip bone morphology	9786	KIAA0586	ORPHA:397715
HP:0003272	Abnormal hip bone morphology	91147	TMEM67	ORPHA:140976
HP:0003272	Abnormal hip bone morphology	3373	HYAL1	ORPHA:67041
HP:0003272	Abnormal hip bone morphology	60561	RINT1	OMIM:618641
HP:0003272	Abnormal hip bone morphology	27152	INTU	OMIM:617925
HP:0003272	Abnormal hip bone morphology	1301	COL11A1	OMIM:228520
HP:0003272	Abnormal hip bone morphology	112752	IFT43	OMIM:617866
HP:0003272	Abnormal hip bone morphology	83879	CDCA7	OMIM:616910
HP:0003272	Abnormal hip bone morphology	1302	COL11A2	OMIM:614524
HP:0003272	Abnormal hip bone morphology	2263	FGFR2	ORPHA:313855
HP:0003272	Abnormal hip bone morphology	3636	INPPL1	OMIM:258480
HP:0003272	Abnormal hip bone morphology	3636	INPPL1	ORPHA:2746
HP:0003272	Abnormal hip bone morphology	5331	PLCB3	OMIM:618961
HP:0003272	Abnormal hip bone morphology	153241	CEP120	OMIM:616300
HP:0003272	Abnormal hip bone morphology	51025	PAM16	OMIM:613320
HP:0003272	Abnormal hip bone morphology	25871	NEPRO	OMIM:618853
HP:0003272	Abnormal hip bone morphology	9382	COG1	OMIM:611209
HP:0003272	Abnormal hip bone morphology	4088	SMAD3	ORPHA:284984
HP:0003272	Abnormal hip bone morphology	4088	SMAD3	OMIM:613795
HP:0003272	Abnormal hip bone morphology	2200	FBN1	OMIM:154700
HP:0003272	Abnormal hip bone morphology	5176	SERPINF1	OMIM:613982
HP:0003272	Abnormal hip bone morphology	10491	CRTAP	OMIM:610682
HP:0003272	Abnormal hip bone morphology	7048	TGFBR2	OMIM:610168
HP:0003272	Abnormal hip bone morphology	7042	TGFB2	OMIM:614816
HP:0003272	Abnormal hip bone morphology	1108	CHD4	OMIM:617159
HP:0003272	Abnormal hip bone morphology	124583	CANT1	OMIM:617719
HP:0003272	Abnormal hip bone morphology	124583	CANT1	OMIM:251450
HP:0003272	Abnormal hip bone morphology	57539	WDR35	OMIM:614091
HP:0003272	Abnormal hip bone morphology	83452	RAB33B	OMIM:615222
HP:0003272	Abnormal hip bone morphology	51098	IFT52	OMIM:617102
HP:0003272	Abnormal hip bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0003272	Abnormal hip bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0003272	Abnormal hip bone morphology	50485	SMARCAL1	OMIM:242900
HP:0003272	Abnormal hip bone morphology	649	BMP1	OMIM:614856
HP:0003272	Abnormal hip bone morphology	341640	FREM2	ORPHA:2052
HP:0003272	Abnormal hip bone morphology	80144	FRAS1	ORPHA:2052
HP:0003272	Abnormal hip bone morphology	80144	FRAS1	OMIM:219000
HP:0003272	Abnormal hip bone morphology	23426	GRIP1	ORPHA:2052
HP:0003272	Abnormal hip bone morphology	6335	SCN9A	ORPHA:970
HP:0003272	Abnormal hip bone morphology	65125	WNK1	ORPHA:970
HP:0003272	Abnormal hip bone morphology	54463	RETREG1	ORPHA:970
HP:0003272	Abnormal hip bone morphology	547	KIF1A	ORPHA:970
HP:0003272	Abnormal hip bone morphology	7421	VDR	ORPHA:93160
HP:0003272	Abnormal hip bone morphology	157680	VPS13B	ORPHA:193
HP:0003272	Abnormal hip bone morphology	89970	RSPRY1	ORPHA:457395
HP:0003272	Abnormal hip bone morphology	7140	TNNT3	ORPHA:1147
HP:0003272	Abnormal hip bone morphology	7140	TNNT3	ORPHA:1146
HP:0003272	Abnormal hip bone morphology	7136	TNNI2	ORPHA:1147
HP:0003272	Abnormal hip bone morphology	7136	TNNI2	ORPHA:1146
HP:0003272	Abnormal hip bone morphology	4604	MYBPC1	ORPHA:1146
HP:0003272	Abnormal hip bone morphology	2733	GLE1	ORPHA:1486
HP:0003272	Abnormal hip bone morphology	23314	SATB2	ORPHA:251028
HP:0003272	Abnormal hip bone morphology	8200	GDF5	ORPHA:2639
HP:0003272	Abnormal hip bone morphology	658	BMPR1B	ORPHA:2639
HP:0003272	Abnormal hip bone morphology	64359	NXN	ORPHA:1507
HP:0003272	Abnormal hip bone morphology	4920	ROR2	ORPHA:1507
HP:0003272	Abnormal hip bone morphology	84295	PHF6	ORPHA:127
HP:0003272	Abnormal hip bone morphology	5184	PEPD	ORPHA:742
HP:0003272	Abnormal hip bone morphology	9897	WASHC5	ORPHA:7
HP:0003272	Abnormal hip bone morphology	28952	CCDC22	ORPHA:7
HP:0003272	Abnormal hip bone morphology	4914	NTRK1	ORPHA:642
HP:0003272	Abnormal hip bone morphology	6473	SHOX	ORPHA:240
HP:0003272	Abnormal hip bone morphology	170302	ARX	ORPHA:2508
HP:0003272	Abnormal hip bone morphology	9653	HS2ST1	OMIM:619194
HP:0003272	Abnormal hip bone morphology	274	BIN1	ORPHA:169186
HP:0003272	Abnormal hip bone morphology	10290	SPEG	ORPHA:169186
HP:0003272	Abnormal hip bone morphology	10290	SPEG	OMIM:615959
HP:0003272	Abnormal hip bone morphology	7273	TTN	ORPHA:169186
HP:0003272	Abnormal hip bone morphology	59341	TRPV4	OMIM:600175
HP:0003272	Abnormal hip bone morphology	55906	ZC4H2	OMIM:301041
HP:0003272	Abnormal hip bone morphology	4593	MUSK	OMIM:208150
HP:0003272	Abnormal hip bone morphology	29895	MYL11	OMIM:619110
HP:0003272	Abnormal hip bone morphology	100151683	RNU4ATAC	OMIM:210710
HP:0003272	Abnormal hip bone morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0003272	Abnormal hip bone morphology	100151683	RNU4ATAC	OMIM:616651
HP:0003272	Abnormal hip bone morphology	9894	TELO2	ORPHA:488642
HP:0003272	Abnormal hip bone morphology	285175	UNC80	OMIM:616801
HP:0003272	Abnormal hip bone morphology	285175	UNC80	ORPHA:371364
HP:0003272	Abnormal hip bone morphology	259232	NALCN	ORPHA:371364
HP:0003272	Abnormal hip bone morphology	259232	NALCN	OMIM:616266
HP:0003272	Abnormal hip bone morphology	84992	PIGY	OMIM:616809
HP:0003272	Abnormal hip bone morphology	64324	NSD1	ORPHA:821
HP:0003272	Abnormal hip bone morphology	29072	SETD2	ORPHA:821
HP:0003272	Abnormal hip bone morphology	10297	APC2	ORPHA:821
HP:0003272	Abnormal hip bone morphology	11160	ERLIN2	ORPHA:209951
HP:0003272	Abnormal hip bone morphology	2617	GARS1	OMIM:619042
HP:0003272	Abnormal hip bone morphology	26137	ZBTB20	OMIM:259050
HP:0003272	Abnormal hip bone morphology	26137	ZBTB20	ORPHA:3042
HP:0003272	Abnormal hip bone morphology	6536	SLC6A9	OMIM:617301
HP:0003272	Abnormal hip bone morphology	163175	LGI4	OMIM:617468
HP:0003272	Abnormal hip bone morphology	2201	FBN2	OMIM:121050
HP:0003272	Abnormal hip bone morphology	60681	FKBP10	OMIM:259450
HP:0003272	Abnormal hip bone morphology	4773	NFATC2	OMIM:620232
HP:0003272	Abnormal hip bone morphology	1161	ERCC8	OMIM:216400
HP:0003272	Abnormal hip bone morphology	87178	PNPT1	ORPHA:319514
HP:0003272	Abnormal hip bone morphology	79158	GNPTAB	ORPHA:576
HP:0003272	Abnormal hip bone morphology	4621	MYH3	OMIM:178110
HP:0003272	Abnormal hip bone morphology	4621	MYH3	OMIM:193700
HP:0003272	Abnormal hip bone morphology	84068	SLC10A7	OMIM:618363
HP:0003272	Abnormal hip bone morphology	2157	F8	ORPHA:169805
HP:0003272	Abnormal hip bone morphology	7317	UBA1	ORPHA:1145
HP:0003272	Abnormal hip bone morphology	7138	TNNT1	ORPHA:98902
HP:0003272	Abnormal hip bone morphology	7138	TNNT1	OMIM:605355
HP:0003272	Abnormal hip bone morphology	4313	MMP2	OMIM:259600
HP:0003272	Abnormal hip bone morphology	5297	PI4KA	OMIM:619621
HP:0003272	Abnormal hip bone morphology	54681	P4HTM	OMIM:618493
HP:0003272	Abnormal hip bone morphology	5277	PIGA	OMIM:300868
HP:0003272	Abnormal hip bone morphology	6023	RMRP	OMIM:607095
HP:0003272	Abnormal hip bone morphology	2783	GNB2	OMIM:619503
HP:0003272	Abnormal hip bone morphology	4632	MYL1	OMIM:618414
HP:0003272	Abnormal hip bone morphology	4000	LMNA	OMIM:613205
HP:0003272	Abnormal hip bone morphology	54808	DYM	OMIM:607326
HP:0003272	Abnormal hip bone morphology	54808	DYM	ORPHA:239
HP:0003272	Abnormal hip bone morphology	3911	LAMA5	OMIM:620076
HP:0003272	Abnormal hip bone morphology	411	ARSB	OMIM:253200
HP:0003272	Abnormal hip bone morphology	2720	GLB1	OMIM:253010
HP:0003272	Abnormal hip bone morphology	2588	GALNS	OMIM:253000
HP:0003272	Abnormal hip bone morphology	7227	TRPS1	OMIM:190350
HP:0003272	Abnormal hip bone morphology	7227	TRPS1	OMIM:190351
HP:0003272	Abnormal hip bone morphology	9496	TBX4	ORPHA:261279
HP:0003272	Abnormal hip bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0003272	Abnormal hip bone morphology	1297	COL9A1	OMIM:614135
HP:0003272	Abnormal hip bone morphology	1297	COL9A1	ORPHA:166002
HP:0003272	Abnormal hip bone morphology	567	B2M	ORPHA:314652
HP:0003272	Abnormal hip bone morphology	1299	COL9A3	ORPHA:166002
HP:0003272	Abnormal hip bone morphology	1280	COL2A1	ORPHA:93316
HP:0003272	Abnormal hip bone morphology	3417	IDH1	ORPHA:99646
HP:0003272	Abnormal hip bone morphology	57477	SHROOM4	ORPHA:85288
HP:0003272	Abnormal hip bone morphology	2192	FBLN1	ORPHA:404451
HP:0003272	Abnormal hip bone morphology	8218	CLTCL1	ORPHA:453510
HP:0003272	Abnormal hip bone morphology	10804	GJB6	ORPHA:477
HP:0003272	Abnormal hip bone morphology	2706	GJB2	ORPHA:477
HP:0003272	Abnormal hip bone morphology	23387	SIK3	OMIM:618162
HP:0003272	Abnormal hip bone morphology	865	CBFB	OMIM:620099
HP:0003272	Abnormal hip bone morphology	1311	COMP	ORPHA:750
HP:0003272	Abnormal hip bone morphology	2137	EXTL3	ORPHA:508533
HP:0003272	Abnormal hip bone morphology	1146	CHRNG	OMIM:265000
HP:0003272	Abnormal hip bone morphology	10717	AP4B1	ORPHA:280763
HP:0003272	Abnormal hip bone morphology	10717	AP4B1	OMIM:614066
HP:0003272	Abnormal hip bone morphology	9179	AP4M1	ORPHA:280763
HP:0003272	Abnormal hip bone morphology	11154	AP4S1	ORPHA:280763
HP:0003272	Abnormal hip bone morphology	23431	AP4E1	ORPHA:280763
HP:0003272	Abnormal hip bone morphology	126792	B3GALT6	ORPHA:536467
HP:0003272	Abnormal hip bone morphology	29928	TIMM22	OMIM:618851
HP:0003272	Abnormal hip bone morphology	6210	RPS15A	OMIM:618313
HP:0003272	Abnormal hip bone morphology	9775	EIF4A3	OMIM:268305
HP:0003272	Abnormal hip bone morphology	25885	POLR1A	OMIM:616462
HP:0003272	Abnormal hip bone morphology	1836	SLC26A2	ORPHA:93307
HP:0003272	Abnormal hip bone morphology	2990	GUSB	OMIM:253220
HP:0003272	Abnormal hip bone morphology	23443	SLC35A3	OMIM:615553
HP:0003272	Abnormal hip bone morphology	65082	VPS33A	OMIM:617303
HP:0003272	Abnormal hip bone morphology	84700	MYO18B	OMIM:616549
HP:0003272	Abnormal hip bone morphology	55681	SCYL2	ORPHA:1143
HP:0003272	Abnormal hip bone morphology	84570	COL25A1	ORPHA:1143
HP:0003272	Abnormal hip bone morphology	57222	ERGIC1	ORPHA:1143
HP:0003272	Abnormal hip bone morphology	4897	NRCAM	OMIM:619833
HP:0003272	Abnormal hip bone morphology	8546	AP3B1	OMIM:608233
HP:0003272	Abnormal hip bone morphology	5745	PTH1R	ORPHA:79106
HP:0003272	Abnormal hip bone morphology	10484	SEC23A	OMIM:607812
HP:0003272	Abnormal hip bone morphology	10484	SEC23A	ORPHA:50814
HP:0003272	Abnormal hip bone morphology	139285	AMER1	ORPHA:2780
HP:0003272	Abnormal hip bone morphology	4125	MAN2B1	ORPHA:309282
HP:0003272	Abnormal hip bone morphology	10940	POP1	OMIM:617396
HP:0003272	Abnormal hip bone morphology	54872	PIGG	ORPHA:280
HP:0003272	Abnormal hip bone morphology	7469	NELFA	ORPHA:280
HP:0003272	Abnormal hip bone morphology	26040	SETBP1	OMIM:269150
HP:0003272	Abnormal hip bone morphology	4010	LMX1B	ORPHA:2614
HP:0003272	Abnormal hip bone morphology	4010	LMX1B	OMIM:161200
HP:0003272	Abnormal hip bone morphology	79659	DYNC2H1	OMIM:613091
HP:0003272	Abnormal hip bone morphology	55112	DYNC2I1	OMIM:615503
HP:0003272	Abnormal hip bone morphology	255758	DYNLT2B	OMIM:617405
HP:0003272	Abnormal hip bone morphology	81839	VANGL1	ORPHA:3027
HP:0003272	Abnormal hip bone morphology	80199	FUZ	ORPHA:3027
HP:0003272	Abnormal hip bone morphology	3106	HLA-B	OMIM:106300
HP:0003272	Abnormal hip bone morphology	7355	SLC35A2	ORPHA:356961
HP:0003272	Abnormal hip bone morphology	55628	ZNF407	OMIM:619557
HP:0003272	Abnormal hip bone morphology	51608	GET4	OMIM:620200
HP:0003272	Abnormal hip bone morphology	28962	OSTM1	OMIM:259720
HP:0003272	Abnormal hip bone morphology	27125	AFF4	ORPHA:444077
HP:0003272	Abnormal hip bone morphology	84823	LMNB2	OMIM:619180
HP:0003272	Abnormal hip bone morphology	51112	TRAPPC12	ORPHA:500144
HP:0003272	Abnormal hip bone morphology	29998	BICRA	OMIM:619325
HP:0003272	Abnormal hip bone morphology	79633	FAT4	OMIM:615546
HP:0003272	Abnormal hip bone morphology	2132	EXT2	ORPHA:321
HP:0003272	Abnormal hip bone morphology	23169	SLC35D1	OMIM:269250
HP:0003272	Abnormal hip bone morphology	9842	PLEKHM1	OMIM:611497
HP:0003272	Abnormal hip bone morphology	26123	TCTN3	OMIM:614815
HP:0003272	Abnormal hip bone morphology	9851	KIAA0753	OMIM:619479
HP:0003272	Abnormal hip bone morphology	2261	FGFR3	ORPHA:15
HP:0003272	Abnormal hip bone morphology	117581	TWIST2	ORPHA:1807
HP:0003272	Abnormal hip bone morphology	7132	TNFRSF1A	ORPHA:32960
HP:0003272	Abnormal hip bone morphology	1758	DMP1	ORPHA:289176
HP:0003272	Abnormal hip bone morphology	79639	TMEM53	OMIM:619727
HP:0003272	Abnormal hip bone morphology	3977	LIFR	OMIM:601559
HP:0003272	Abnormal hip bone morphology	54	ACP5	OMIM:607944
HP:0003272	Abnormal hip bone morphology	1235	CCR6	ORPHA:220393
HP:0003272	Abnormal hip bone morphology	1235	CCR6	ORPHA:220402
HP:0003272	Abnormal hip bone morphology	1490	CCN2	ORPHA:220393
HP:0003272	Abnormal hip bone morphology	1490	CCN2	ORPHA:220402
HP:0003272	Abnormal hip bone morphology	3663	IRF5	ORPHA:220393
HP:0003272	Abnormal hip bone morphology	3663	IRF5	ORPHA:220402
HP:0003272	Abnormal hip bone morphology	857	CAV1	ORPHA:220393
HP:0003272	Abnormal hip bone morphology	857	CAV1	ORPHA:220402
HP:0003272	Abnormal hip bone morphology	3123	HLA-DRB1	ORPHA:220393
HP:0003272	Abnormal hip bone morphology	3123	HLA-DRB1	ORPHA:220402
HP:0003272	Abnormal hip bone morphology	79932	KIAA0319L	ORPHA:220402
HP:0003273	Hip contracture	9653	HS2ST1	OMIM:619194
HP:0003273	Hip contracture	274	BIN1	ORPHA:169186
HP:0003273	Hip contracture	10290	SPEG	ORPHA:169186
HP:0003273	Hip contracture	10290	SPEG	OMIM:615959
HP:0003273	Hip contracture	6261	RYR1	ORPHA:169186
HP:0003273	Hip contracture	7273	TTN	ORPHA:169186
HP:0003273	Hip contracture	59341	TRPV4	OMIM:600175
HP:0003273	Hip contracture	55906	ZC4H2	OMIM:301041
HP:0003273	Hip contracture	57190	SELENON	ORPHA:97244
HP:0003273	Hip contracture	57190	SELENON	ORPHA:2020
HP:0003273	Hip contracture	58	ACTA1	ORPHA:97244
HP:0003273	Hip contracture	58	ACTA1	ORPHA:2020
HP:0003273	Hip contracture	4593	MUSK	OMIM:208150
HP:0003273	Hip contracture	29895	MYL11	OMIM:619110
HP:0003273	Hip contracture	100151683	RNU4ATAC	OMIM:210710
HP:0003273	Hip contracture	100151683	RNU4ATAC	ORPHA:353298
HP:0003273	Hip contracture	100151683	RNU4ATAC	OMIM:616651
HP:0003273	Hip contracture	6885	MAP3K7	OMIM:617137
HP:0003273	Hip contracture	9894	TELO2	ORPHA:488642
HP:0003273	Hip contracture	285175	UNC80	OMIM:616801
HP:0003273	Hip contracture	285175	UNC80	ORPHA:371364
HP:0003273	Hip contracture	259232	NALCN	ORPHA:371364
HP:0003273	Hip contracture	259232	NALCN	OMIM:616266
HP:0003273	Hip contracture	84992	PIGY	OMIM:616809
HP:0003273	Hip contracture	64324	NSD1	ORPHA:821
HP:0003273	Hip contracture	29072	SETD2	ORPHA:821
HP:0003273	Hip contracture	10297	APC2	ORPHA:821
HP:0003273	Hip contracture	11160	ERLIN2	ORPHA:209951
HP:0003273	Hip contracture	2617	GARS1	OMIM:619042
HP:0003273	Hip contracture	26137	ZBTB20	OMIM:259050
HP:0003273	Hip contracture	26137	ZBTB20	ORPHA:3042
HP:0003273	Hip contracture	1836	SLC26A2	OMIM:222600
HP:0003273	Hip contracture	6536	SLC6A9	OMIM:617301
HP:0003273	Hip contracture	23522	KAT6B	ORPHA:85201
HP:0003273	Hip contracture	23522	KAT6B	OMIM:606170
HP:0003273	Hip contracture	163175	LGI4	OMIM:617468
HP:0003273	Hip contracture	2201	FBN2	OMIM:121050
HP:0003273	Hip contracture	60681	FKBP10	OMIM:259450
HP:0003273	Hip contracture	4773	NFATC2	OMIM:620232
HP:0003273	Hip contracture	1161	ERCC8	OMIM:216400
HP:0003273	Hip contracture	7169	TPM2	OMIM:108120
HP:0003273	Hip contracture	7169	TPM2	ORPHA:2020
HP:0003273	Hip contracture	87178	PNPT1	ORPHA:319514
HP:0003273	Hip contracture	79158	GNPTAB	ORPHA:576
HP:0003273	Hip contracture	23299	BICD2	OMIM:615290
HP:0003273	Hip contracture	4621	MYH3	OMIM:178110
HP:0003273	Hip contracture	4621	MYH3	OMIM:193700
HP:0003273	Hip contracture	5745	PTH1R	OMIM:156400
HP:0003273	Hip contracture	84068	SLC10A7	OMIM:618363
HP:0003273	Hip contracture	2157	F8	ORPHA:169805
HP:0003273	Hip contracture	7317	UBA1	ORPHA:1145
HP:0003273	Hip contracture	55681	SCYL2	ORPHA:1143
HP:0003273	Hip contracture	84570	COL25A1	ORPHA:1143
HP:0003273	Hip contracture	57222	ERGIC1	ORPHA:1143
HP:0003273	Hip contracture	3339	HSPG2	OMIM:255800
HP:0003273	Hip contracture	3339	HSPG2	ORPHA:800
HP:0003273	Hip contracture	7138	TNNT1	ORPHA:98902
HP:0003273	Hip contracture	7138	TNNT1	OMIM:605355
HP:0003273	Hip contracture	4313	MMP2	OMIM:259600
HP:0003273	Hip contracture	1280	COL2A1	OMIM:156550
HP:0003273	Hip contracture	4633	MYL2	ORPHA:2020
HP:0003273	Hip contracture	3679	ITGA7	ORPHA:2020
HP:0003273	Hip contracture	9200	HACD1	ORPHA:2020
HP:0003273	Hip contracture	7170	TPM3	ORPHA:2020
HP:0003273	Hip contracture	51776	MAP3K20	ORPHA:2020
HP:0003273	Hip contracture	5297	PI4KA	OMIM:619621
HP:0003273	Hip contracture	54681	P4HTM	OMIM:618493
HP:0003273	Hip contracture	5277	PIGA	OMIM:300868
HP:0003273	Hip contracture	6023	RMRP	OMIM:607095
HP:0003273	Hip contracture	2783	GNB2	OMIM:619503
HP:0003273	Hip contracture	4632	MYL1	OMIM:618414
HP:0003273	Hip contracture	4000	LMNA	OMIM:613205
HP:0003274	Hypoplastic acetabulae	2720	GLB1	OMIM:230650
HP:0003274	Hypoplastic acetabulae	54808	DYM	OMIM:607326
HP:0003274	Hypoplastic acetabulae	54808	DYM	ORPHA:239
HP:0003274	Hypoplastic acetabulae	3911	LAMA5	OMIM:620076
HP:0003274	Hypoplastic acetabulae	411	ARSB	OMIM:253200
HP:0046502	Anorgasmia	27235	COQ2	ORPHA:227510
HP:0046502	Anorgasmia	27235	COQ2	ORPHA:98933
HP:0046503	Increased libido	2260	FGFR1	ORPHA:432
HP:0046503	Increased libido	81848	SPRY4	ORPHA:432
HP:0046503	Increased libido	128674	PROKR2	ORPHA:432
HP:0046503	Increased libido	2253	FGF8	ORPHA:432
HP:0046503	Increased libido	60675	PROK2	ORPHA:432
HP:0046503	Increased libido	55636	CHD7	ORPHA:432
HP:0046503	Increased libido	6870	TACR3	ORPHA:432
HP:0046503	Increased libido	1848	DUSP6	ORPHA:432
HP:0046503	Increased libido	26012	NSMF	ORPHA:432
HP:0046503	Increased libido	55717	WDR11	ORPHA:432
HP:0046503	Increased libido	9394	HS6ST1	ORPHA:432
HP:0046503	Increased libido	2796	GNRH1	ORPHA:432
HP:0046503	Increased libido	2798	GNRHR	ORPHA:432
HP:0046503	Increased libido	84634	KISS1R	ORPHA:432
HP:0046503	Increased libido	6866	TAC3	ORPHA:432
HP:0046503	Increased libido	8822	FGF17	ORPHA:432
HP:0046503	Increased libido	3814	KISS1	ORPHA:432
HP:0046504	Decreased libido	2488	FSHB	ORPHA:52901
HP:0046504	Decreased libido	64072	CDH23	ORPHA:91347
HP:0046504	Decreased libido	64072	CDH23	ORPHA:2965
HP:0046504	Decreased libido	4221	MEN1	ORPHA:2965
HP:0046504	Decreased libido	9049	AIP	ORPHA:2965
HP:0046504	Decreased libido	1027	CDKN1B	ORPHA:652
HP:0046504	Decreased libido	1026	CDKN1A	ORPHA:652
HP:0046504	Decreased libido	1030	CDKN2B	ORPHA:652
HP:0046504	Decreased libido	1031	CDKN2C	ORPHA:652
HP:0046505	Hand pain	1311	COMP	OMIM:619161
HP:0046505	Hand pain	3425	IDUA	OMIM:607015
HP:0046506	Pain in head and neck region	8314	BAP1	ORPHA:2495
HP:0046506	Pain in head and neck region	4771	NF2	ORPHA:2495
HP:0046506	Pain in head and neck region	6598	SMARCB1	ORPHA:2495
HP:0046506	Pain in head and neck region	5155	PDGFB	ORPHA:2495
HP:0046506	Pain in head and neck region	84231	TRAF7	ORPHA:2495
HP:0046506	Pain in head and neck region	6608	SMO	ORPHA:2495
HP:0046506	Pain in head and neck region	207	AKT1	ORPHA:2495
HP:0046506	Pain in head and neck region	5290	PIK3CA	ORPHA:2495
HP:0046506	Pain in head and neck region	7015	TERT	ORPHA:2495
HP:0046506	Pain in head and neck region	51684	SUFU	ORPHA:2495
HP:0046506	Pain in head and neck region	6605	SMARCE1	ORPHA:2495
HP:0046506	Pain in head and neck region	3868	KRT16	ORPHA:2309
HP:0046506	Pain in head and neck region	3872	KRT17	ORPHA:2309
HP:0046506	Pain in head and neck region	3853	KRT6A	ORPHA:2309
HP:0046506	Pain in head and neck region	3854	KRT6B	ORPHA:2309
HP:0046506	Pain in head and neck region	4914	NTRK1	ORPHA:642
HP:0046506	Pain in head and neck region	5654	HTRA1	ORPHA:199354
HP:0046506	Pain in head and neck region	22943	DKK1	ORPHA:268882
HP:0046506	Pain in head and neck region	5921	RASA1	ORPHA:90307
HP:0046506	Pain in head and neck region	3145	HMBS	ORPHA:79276
HP:0046506	Pain in head and neck region	4796	TONSL	ORPHA:93357
HP:0046506	Pain in head and neck region	123624	AGBL1	ORPHA:98974
HP:0046506	Pain in head and neck region	6925	TCF4	ORPHA:98974
HP:0046506	Pain in head and neck region	83959	SLC4A11	ORPHA:98974
HP:0046506	Pain in head and neck region	4166	CHST6	ORPHA:98969
HP:0046506	Pain in head and neck region	6335	SCN9A	OMIM:167400
HP:0046506	Pain in head and neck region	1308	COL17A1	ORPHA:293381
HP:0046506	Pain in head and neck region	1308	COL17A1	OMIM:122400
HP:0046506	Pain in head and neck region	57105	CYSLTR2	ORPHA:39044
HP:0046506	Pain in head and neck region	2776	GNAQ	ORPHA:39044
HP:0046506	Pain in head and neck region	2767	GNA11	ORPHA:39044
HP:0046506	Pain in head and neck region	23451	SF3B1	ORPHA:39044
HP:0046506	Pain in head and neck region	7045	TGFBI	ORPHA:98962
HP:0046506	Pain in head and neck region	7045	TGFBI	ORPHA:98964
HP:0046506	Pain in head and neck region	7045	TGFBI	ORPHA:98960
HP:0046506	Pain in head and neck region	1497	CTNS	ORPHA:411634
HP:0046506	Pain in head and neck region	23516	SLC39A14	OMIM:144755
HP:0046506	Pain in head and neck region	6935	ZEB1	ORPHA:98973
HP:0046506	Pain in head and neck region	30813	VSX1	ORPHA:98973
HP:0046506	Pain in head and neck region	58495	OVOL2	ORPHA:98973
HP:0046506	Pain in head and neck region	79977	GRHL2	ORPHA:98973
HP:0046506	Pain in head and neck region	1296	COL8A2	ORPHA:98973
HP:0046507	Bradypnea	128240	NAXE	OMIM:617186
HP:0046508	Abnormal cervical spine morphology	1836	SLC26A2	ORPHA:56304
HP:0046508	Abnormal cervical spine morphology	1836	SLC26A2	OMIM:256050
HP:0046508	Abnormal cervical spine morphology	1836	SLC26A2	OMIM:222600
HP:0046508	Abnormal cervical spine morphology	1836	SLC26A2	ORPHA:93307
HP:0046508	Abnormal cervical spine morphology	64412	GZF1	OMIM:617662
HP:0046508	Abnormal cervical spine morphology	113189	CHST14	ORPHA:2953
HP:0046508	Abnormal cervical spine morphology	29940	DSE	ORPHA:2953
HP:0046508	Abnormal cervical spine morphology	134701	RIPPLY2	OMIM:616566
HP:0046508	Abnormal cervical spine morphology	6662	SOX9	OMIM:114290
HP:0046508	Abnormal cervical spine morphology	3339	HSPG2	OMIM:255800
HP:0046508	Abnormal cervical spine morphology	415	ARSL	ORPHA:79345
HP:0046508	Abnormal cervical spine morphology	2517	FUCA1	OMIM:230000
HP:0046508	Abnormal cervical spine morphology	57647	DHX37	OMIM:618731
HP:0046508	Abnormal cervical spine morphology	2733	GLE1	OMIM:253310
HP:0046508	Abnormal cervical spine morphology	2317	FLNB	ORPHA:56305
HP:0046508	Abnormal cervical spine morphology	1146	CHRNG	OMIM:253290
HP:0046508	Abnormal cervical spine morphology	1144	CHRND	OMIM:253290
HP:0046508	Abnormal cervical spine morphology	1134	CHRNA1	OMIM:253290
HP:0046508	Abnormal cervical spine morphology	10682	EBP	ORPHA:35173
HP:0046508	Abnormal cervical spine morphology	59341	TRPV4	ORPHA:2635
HP:0046508	Abnormal cervical spine morphology	347734	SLC35B2	OMIM:620269
HP:0046508	Abnormal cervical spine morphology	23126	POGZ	OMIM:616364
HP:0046508	Abnormal cervical spine morphology	11128	POLR3A	ORPHA:3455
HP:0046508	Abnormal cervical spine morphology	5654	HTRA1	ORPHA:199354
HP:0003279	Coxa magna	7227	TRPS1	OMIM:190350
HP:0003279	Coxa magna	7227	TRPS1	OMIM:190351
HP:0003279	Coxa magna	9496	TBX4	ORPHA:261279
HP:0003277	Constricted iliac wing	2720	GLB1	OMIM:253010
HP:0003277	Constricted iliac wing	2588	GALNS	OMIM:253000
HP:0003278	Square pelvis bone	2074	ERCC6	OMIM:133540
HP:0003278	Square pelvis bone	9321	TRIP11	ORPHA:166272
HP:0003278	Square pelvis bone	1161	ERCC8	OMIM:216400
HP:0003278	Square pelvis bone	145173	B3GLCT	OMIM:261540
HP:0003275	Narrow pelvis bone	5745	PTH1R	ORPHA:79106
HP:0003275	Narrow pelvis bone	5745	PTH1R	OMIM:600002
HP:0003275	Narrow pelvis bone	633	BGN	OMIM:300106
HP:0003275	Narrow pelvis bone	89970	RSPRY1	ORPHA:457395
HP:0003275	Narrow pelvis bone	89970	RSPRY1	OMIM:616723
HP:0003275	Narrow pelvis bone	5447	POR	OMIM:207410
HP:0003275	Narrow pelvis bone	5447	POR	ORPHA:95699
HP:0003275	Narrow pelvis bone	2263	FGFR2	OMIM:207410
HP:0003275	Narrow pelvis bone	5116	PCNT	ORPHA:2637
HP:0003275	Narrow pelvis bone	5116	PCNT	OMIM:210720
HP:0003275	Narrow pelvis bone	168667	BMPER	ORPHA:66637
HP:0003275	Narrow pelvis bone	168667	BMPER	OMIM:608022
HP:0003275	Narrow pelvis bone	3425	IDUA	ORPHA:93473
HP:0003276	Pelvic bone exostoses	2131	EXT1	OMIM:133700
HP:0003276	Pelvic bone exostoses	538	ATP7A	OMIM:304150
HP:0003276	Pelvic bone exostoses	2132	EXT2	OMIM:133701
HP:0003281	Increased circulating ferritin concentration	9056	SLC7A7	ORPHA:470
HP:0003281	Increased circulating ferritin concentration	9056	SLC7A7	OMIM:222700
HP:0003281	Increased circulating ferritin concentration	30061	SLC40A1	ORPHA:139491
HP:0003281	Increased circulating ferritin concentration	30061	SLC40A1	OMIM:606069
HP:0003281	Increased circulating ferritin concentration	55388	MCM10	OMIM:619313
HP:0003281	Increased circulating ferritin concentration	3702	ITK	OMIM:613011
HP:0003281	Increased circulating ferritin concentration	54914	FOCAD	OMIM:619991
HP:0003281	Increased circulating ferritin concentration	331	XIAP	OMIM:300635
HP:0003281	Increased circulating ferritin concentration	55240	STEAP3	OMIM:615234
HP:0003281	Increased circulating ferritin concentration	55240	STEAP3	ORPHA:300298
HP:0003281	Increased circulating ferritin concentration	1356	CP	OMIM:604290
HP:0003281	Increased circulating ferritin concentration	1356	CP	ORPHA:48818
HP:0003281	Increased circulating ferritin concentration	148738	HJV	OMIM:602390
HP:0003281	Increased circulating ferritin concentration	148738	HJV	ORPHA:79230
HP:0003281	Increased circulating ferritin concentration	2495	FTH1	OMIM:615517
HP:0003281	Increased circulating ferritin concentration	9780	PIEZO1	OMIM:194380
HP:0003281	Increased circulating ferritin concentration	9780	PIEZO1	ORPHA:3202
HP:0003281	Increased circulating ferritin concentration	7036	TFR2	OMIM:604250
HP:0003281	Increased circulating ferritin concentration	5551	PRF1	ORPHA:540
HP:0003281	Increased circulating ferritin concentration	5551	PRF1	OMIM:603553
HP:0003281	Increased circulating ferritin concentration	8676	STX11	ORPHA:540
HP:0003281	Increased circulating ferritin concentration	8676	STX11	OMIM:603552
HP:0003281	Increased circulating ferritin concentration	201294	UNC13D	ORPHA:540
HP:0003281	Increased circulating ferritin concentration	6813	STXBP2	ORPHA:540
HP:0003281	Increased circulating ferritin concentration	6813	STXBP2	OMIM:613101
HP:0003281	Increased circulating ferritin concentration	58484	NLRC4	OMIM:616050
HP:0003281	Increased circulating ferritin concentration	2512	FTL	OMIM:600886
HP:0003281	Increased circulating ferritin concentration	2512	FTL	ORPHA:254704
HP:0003281	Increased circulating ferritin concentration	617	BCS1L	OMIM:603358
HP:0003281	Increased circulating ferritin concentration	617	BCS1L	ORPHA:53693
HP:0003281	Increased circulating ferritin concentration	6573	SLC19A1	OMIM:601775
HP:0003281	Increased circulating ferritin concentration	84868	HAVCR2	OMIM:618398
HP:0003281	Increased circulating ferritin concentration	3162	HMOX1	OMIM:614034
HP:0003281	Increased circulating ferritin concentration	54977	SLC25A38	OMIM:205950
HP:0003281	Increased circulating ferritin concentration	64135	IFIH1	OMIM:615846
HP:0003281	Increased circulating ferritin concentration	5294	PIK3CG	OMIM:619802
HP:0003281	Increased circulating ferritin concentration	79989	IFT56	OMIM:619534
HP:0003281	Increased circulating ferritin concentration	51218	GLRX5	OMIM:616860
HP:0003281	Increased circulating ferritin concentration	3458	IFNG	OMIM:618963
HP:0003281	Increased circulating ferritin concentration	6773	STAT2	OMIM:618886
HP:0003281	Increased circulating ferritin concentration	654	BMP6	ORPHA:465508
HP:0003281	Increased circulating ferritin concentration	654	BMP6	OMIM:620121
HP:0003281	Increased circulating ferritin concentration	3077	HFE	ORPHA:465508
HP:0003281	Increased circulating ferritin concentration	3077	HFE	OMIM:235200
HP:0003281	Increased circulating ferritin concentration	57817	HAMP	OMIM:613313
HP:0003281	Increased circulating ferritin concentration	57817	HAMP	ORPHA:79230
HP:0003281	Increased circulating ferritin concentration	6521	SLC4A1	ORPHA:3202
HP:0003281	Increased circulating ferritin concentration	3783	KCNN4	ORPHA:3202
HP:0003281	Increased circulating ferritin concentration	5313	PKLR	ORPHA:766
HP:0003281	Increased circulating ferritin concentration	1130	LYST	ORPHA:167
HP:0003281	Increased circulating ferritin concentration	80324	PUS1	OMIM:600462
HP:0003281	Increased circulating ferritin concentration	3043	HBB	ORPHA:231249
HP:0003281	Increased circulating ferritin concentration	1371	CPOX	OMIM:618892
HP:0003281	Increased circulating ferritin concentration	650	BMP2	OMIM:235200
HP:0003282	Low alkaline phosphatase	10026	PIGK	OMIM:618879
HP:0003282	Low alkaline phosphatase	3988	LIPA	OMIM:278000
HP:0003282	Low alkaline phosphatase	249	ALPL	OMIM:146300
HP:0003282	Low alkaline phosphatase	249	ALPL	OMIM:241500
HP:0003282	Low alkaline phosphatase	249	ALPL	OMIM:241510
HP:0003282	Low alkaline phosphatase	55630	SLC39A4	OMIM:201100
HP:0003282	Low alkaline phosphatase	497661	C18orf32	OMIM:619985
HP:0003282	Low alkaline phosphatase	94005	PIGS	OMIM:618143
HP:0003282	Low alkaline phosphatase	51604	PIGT	ORPHA:369837
HP:0003282	Low alkaline phosphatase	25	ABL1	OMIM:608232
HP:0003282	Low alkaline phosphatase	613	BCR	OMIM:608232
HP:0003282	Low alkaline phosphatase	1053	CEBPE	OMIM:245480
HP:0003286	Cystathioninemia	1491	CTH	ORPHA:212
HP:0003286	Cystathioninemia	55788	LMBRD1	OMIM:277380
HP:0003286	Cystathioninemia	4524	MTHFR	ORPHA:395
HP:0003286	Cystathioninemia	25974	MMACHC	OMIM:277400
HP:0003286	Cystathioninemia	5052	PRDX1	OMIM:277400
HP:0003287	Abnormality of mitochondrial metabolism	6389	SDHA	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	80704	SLC19A3	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	6834	SURF1	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	51204	TACO1	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	5160	PDHA1	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	5160	PDHA1	OMIM:312170
HP:0003287	Abnormality of mitochondrial metabolism	100131801	PET100	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	1355	COX15	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	1892	ECHS1	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	1892	ECHS1	OMIM:616277
HP:0003287	Abnormality of mitochondrial metabolism	51601	LIPT1	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	4697	NDUFA4	ORPHA:255241
HP:0003287	Abnormality of mitochondrial metabolism	1737	DLAT	OMIM:245348
HP:0003287	Abnormality of mitochondrial metabolism	51218	GLRX5	ORPHA:401866
HP:0003287	Abnormality of mitochondrial metabolism	51218	GLRX5	OMIM:616859
HP:0003287	Abnormality of mitochondrial metabolism	8050	PDHX	OMIM:245349
HP:0003287	Abnormality of mitochondrial metabolism	8050	PDHX	ORPHA:255182
HP:0003287	Abnormality of mitochondrial metabolism	5162	PDHB	ORPHA:255138
HP:0003287	Abnormality of mitochondrial metabolism	11019	LIAS	OMIM:614462
HP:0003287	Abnormality of mitochondrial metabolism	64116	SLC39A8	ORPHA:468699
HP:0003287	Abnormality of mitochondrial metabolism	54704	PDP1	OMIM:608782
HP:0003287	Abnormality of mitochondrial metabolism	54704	PDP1	ORPHA:79246
HP:0003287	Abnormality of mitochondrial metabolism	2395	FXN	OMIM:229300
HP:0003287	Abnormality of mitochondrial metabolism	1497	CTNS	OMIM:219800
HP:0003287	Abnormality of mitochondrial metabolism	1738	DLD	ORPHA:2394
HP:0003287	Abnormality of mitochondrial metabolism	3155	HMGCL	OMIM:246450
HP:0003287	Abnormality of mitochondrial metabolism	4556	MT-TE	ORPHA:254864
HP:0003287	Abnormality of mitochondrial metabolism	55687	TRMU	ORPHA:254864
HP:0003287	Abnormality of mitochondrial metabolism	37	ACADVL	OMIM:201475
HP:0003287	Abnormality of mitochondrial metabolism	4695	NDUFA2	OMIM:618235
HP:0003287	Abnormality of mitochondrial metabolism	34	ACADM	OMIM:201450
HP:0003287	Abnormality of mitochondrial metabolism	1294	COL7A1	ORPHA:89842
HP:0003287	Abnormality of mitochondrial metabolism	27034	ACAD8	OMIM:611283
HP:0003287	Abnormality of mitochondrial metabolism	27034	ACAD8	ORPHA:79159
HP:0003287	Abnormality of mitochondrial metabolism	133686	NADK2	ORPHA:431361
HP:0003287	Abnormality of mitochondrial metabolism	3033	HADH	ORPHA:71212
HP:0003287	Abnormality of mitochondrial metabolism	28976	ACAD9	ORPHA:99901
HP:0003287	Abnormality of mitochondrial metabolism	64087	MCCC2	OMIM:210210
HP:0003287	Abnormality of mitochondrial metabolism	788	SLC25A20	ORPHA:159
HP:0003287	Abnormality of mitochondrial metabolism	1962	EHHADH	ORPHA:3337
HP:0003287	Abnormality of mitochondrial metabolism	2628	GATM	ORPHA:3337
HP:0003287	Abnormality of mitochondrial metabolism	137682	NDUFAF6	ORPHA:3337
HP:0003287	Abnormality of mitochondrial metabolism	6569	SLC34A1	ORPHA:3337
HP:0003287	Abnormality of mitochondrial metabolism	6584	SLC22A5	OMIM:212140
HP:0003287	Abnormality of mitochondrial metabolism	1786	DNMT1	ORPHA:314404
HP:0003287	Abnormality of mitochondrial metabolism	26275	HIBCH	ORPHA:88639
HP:0003287	Abnormality of mitochondrial metabolism	204	AK2	ORPHA:33355
HP:0003287	Abnormality of mitochondrial metabolism	3028	HSD17B10	ORPHA:391428
HP:0003287	Abnormality of mitochondrial metabolism	1536	CYBB	OMIM:306400
HP:0003287	Abnormality of mitochondrial metabolism	1535	CYBA	OMIM:233690
HP:0003287	Abnormality of mitochondrial metabolism	2108	ETFA	OMIM:231680
HP:0003287	Abnormality of mitochondrial metabolism	2109	ETFB	OMIM:231680
HP:0003287	Abnormality of mitochondrial metabolism	2110	ETFDH	OMIM:231680
HP:0003287	Abnormality of mitochondrial metabolism	112812	FDX2	OMIM:251900
HP:0003287	Abnormality of mitochondrial metabolism	6390	SDHB	OMIM:619224
HP:0003287	Abnormality of mitochondrial metabolism	6392	SDHD	OMIM:619167
HP:0003287	Abnormality of mitochondrial metabolism	6341	SCO1	OMIM:619048
HP:0003287	Abnormality of mitochondrial metabolism	4568	MT-TL2	ORPHA:663
HP:0003287	Abnormality of mitochondrial metabolism	4567	MT-TL1	ORPHA:663
HP:0003287	Abnormality of mitochondrial metabolism	4567	MT-TL1	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4570	MT-TN	ORPHA:663
HP:0003287	Abnormality of mitochondrial metabolism	4574	MT-TS1	ORPHA:663
HP:0003287	Abnormality of mitochondrial metabolism	4574	MT-TS1	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4558	MT-TF	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4572	MT-TQ	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4513	MT-CO2	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4578	MT-TW	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4575	MT-TS2	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4564	MT-TH	ORPHA:550
HP:0003287	Abnormality of mitochondrial metabolism	4625	MYH7	ORPHA:59135
HP:0003287	Abnormality of mitochondrial metabolism	10128	LRPPRC	OMIM:220111
HP:0003287	Abnormality of mitochondrial metabolism	10128	LRPPRC	ORPHA:70472
HP:0003287	Abnormality of mitochondrial metabolism	9997	SCO2	OMIM:604377
HP:0003287	Abnormality of mitochondrial metabolism	51241	COX16	OMIM:619355
HP:0003287	Abnormality of mitochondrial metabolism	28958	COA3	OMIM:619058
HP:0003287	Abnormality of mitochondrial metabolism	116228	COX20	OMIM:619054
HP:0003287	Abnormality of mitochondrial metabolism	388753	COA6	OMIM:616501
HP:0003287	Abnormality of mitochondrial metabolism	493753	COA5	OMIM:616500
HP:0003287	Abnormality of mitochondrial metabolism	84334	COA8	OMIM:619061
HP:0003287	Abnormality of mitochondrial metabolism	1339	COX6A2	OMIM:619062
HP:0003287	Abnormality of mitochondrial metabolism	100303755	PET117	OMIM:619063
HP:0003287	Abnormality of mitochondrial metabolism	9377	COX5A	OMIM:619064
HP:0003287	Abnormality of mitochondrial metabolism	1327	COX4I1	OMIM:619060
HP:0003287	Abnormality of mitochondrial metabolism	64432	MRPS25	OMIM:619025
HP:0003287	Abnormality of mitochondrial metabolism	50484	RRM2B	OMIM:612075
HP:0003287	Abnormality of mitochondrial metabolism	9131	AIFM1	OMIM:300816
HP:0003287	Abnormality of mitochondrial metabolism	27247	NFU1	OMIM:605711
HP:0003287	Abnormality of mitochondrial metabolism	3735	KARS1	OMIM:619147
HP:0003287	Abnormality of mitochondrial metabolism	8803	SUCLA2	OMIM:612073
HP:0003287	Abnormality of mitochondrial metabolism	2671	GFER	OMIM:613076
HP:0003287	Abnormality of mitochondrial metabolism	10939	AFG3L2	OMIM:610246
HP:0003287	Abnormality of mitochondrial metabolism	9200	HACD1	OMIM:619967
HP:0003287	Abnormality of mitochondrial metabolism	128240	NAXE	OMIM:617186
HP:0003287	Abnormality of mitochondrial metabolism	1020	CDK5	OMIM:616342
HP:0003287	Abnormality of mitochondrial metabolism	4702	NDUFA8	OMIM:619272
HP:0003287	Abnormality of mitochondrial metabolism	54539	NDUFB11	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	54539	NDUFB11	OMIM:301021
HP:0003287	Abnormality of mitochondrial metabolism	25915	NDUFAF3	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	25915	NDUFAF3	OMIM:618240
HP:0003287	Abnormality of mitochondrial metabolism	51103	NDUFAF1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	51103	NDUFAF1	OMIM:618234
HP:0003287	Abnormality of mitochondrial metabolism	91942	NDUFAF2	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	91942	NDUFAF2	OMIM:618233
HP:0003287	Abnormality of mitochondrial metabolism	51300	TIMMDC1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	51300	TIMMDC1	OMIM:618251
HP:0003287	Abnormality of mitochondrial metabolism	4716	NDUFB10	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4716	NDUFB10	OMIM:619003
HP:0003287	Abnormality of mitochondrial metabolism	4723	NDUFV1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4723	NDUFV1	OMIM:618225
HP:0003287	Abnormality of mitochondrial metabolism	55572	FOXRED1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	55572	FOXRED1	OMIM:618241
HP:0003287	Abnormality of mitochondrial metabolism	284184	NDUFAF8	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	284184	NDUFAF8	OMIM:618776
HP:0003287	Abnormality of mitochondrial metabolism	55863	TMEM126B	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	55863	TMEM126B	OMIM:618250
HP:0003287	Abnormality of mitochondrial metabolism	4535	MT-ND1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4537	MT-ND3	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4729	NDUFV2	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4729	NDUFV2	OMIM:618229
HP:0003287	Abnormality of mitochondrial metabolism	4694	NDUFA1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4694	NDUFA1	OMIM:301020
HP:0003287	Abnormality of mitochondrial metabolism	4720	NDUFS2	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4720	NDUFS2	OMIM:618228
HP:0003287	Abnormality of mitochondrial metabolism	4726	NDUFS6	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4726	NDUFS6	OMIM:618232
HP:0003287	Abnormality of mitochondrial metabolism	4728	NDUFS8	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4728	NDUFS8	OMIM:618222
HP:0003287	Abnormality of mitochondrial metabolism	4722	NDUFS3	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4722	NDUFS3	OMIM:618230
HP:0003287	Abnormality of mitochondrial metabolism	79133	NDUFAF5	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	79133	NDUFAF5	OMIM:618238
HP:0003287	Abnormality of mitochondrial metabolism	126328	NDUFA11	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	126328	NDUFA11	OMIM:618236
HP:0003287	Abnormality of mitochondrial metabolism	4709	NDUFB3	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4709	NDUFB3	OMIM:618246
HP:0003287	Abnormality of mitochondrial metabolism	80224	NUBPL	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	80224	NUBPL	OMIM:618242
HP:0003287	Abnormality of mitochondrial metabolism	29078	NDUFAF4	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	29078	NDUFAF4	OMIM:618237
HP:0003287	Abnormality of mitochondrial metabolism	374291	NDUFS7	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4700	NDUFA6	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4700	NDUFA6	OMIM:618253
HP:0003287	Abnormality of mitochondrial metabolism	4536	MT-ND2	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4719	NDUFS1	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4719	NDUFS1	OMIM:618226
HP:0003287	Abnormality of mitochondrial metabolism	4715	NDUFB9	ORPHA:2609
HP:0003287	Abnormality of mitochondrial metabolism	4715	NDUFB9	OMIM:618245
HP:0003287	Abnormality of mitochondrial metabolism	51102	MECR	ORPHA:508093
HP:0003287	Abnormality of mitochondrial metabolism	80308	FLAD1	OMIM:255100
HP:0003287	Abnormality of mitochondrial metabolism	123263	MTFMT	OMIM:614947
HP:0003287	Abnormality of mitochondrial metabolism	123263	MTFMT	OMIM:618248
HP:0003287	Abnormality of mitochondrial metabolism	57176	VARS2	OMIM:615917
HP:0003287	Abnormality of mitochondrial metabolism	200205	IBA57	ORPHA:468661
HP:0003287	Abnormality of mitochondrial metabolism	200205	IBA57	OMIM:615330
HP:0003287	Abnormality of mitochondrial metabolism	92667	MGME1	OMIM:615084
HP:0003287	Abnormality of mitochondrial metabolism	4718	NDUFC2	OMIM:619170
HP:0003287	Abnormality of mitochondrial metabolism	55967	NDUFA12	OMIM:618244
HP:0003287	Abnormality of mitochondrial metabolism	4704	NDUFA9	OMIM:618247
HP:0003287	Abnormality of mitochondrial metabolism	55037	PTCD3	OMIM:619057
HP:0003287	Abnormality of mitochondrial metabolism	4705	NDUFA10	OMIM:618243
HP:0003287	Abnormality of mitochondrial metabolism	51079	NDUFA13	OMIM:618249
HP:0003287	Abnormality of mitochondrial metabolism	80324	PUS1	OMIM:600462
HP:0003287	Abnormality of mitochondrial metabolism	4714	NDUFB8	OMIM:618252
HP:0003287	Abnormality of mitochondrial metabolism	84705	GTPBP3	OMIM:616198
HP:0003287	Abnormality of mitochondrial metabolism	84705	GTPBP3	ORPHA:444013
HP:0003287	Abnormality of mitochondrial metabolism	79731	NARS2	OMIM:616239
HP:0003287	Abnormality of mitochondrial metabolism	122961	ISCA2	OMIM:616370
HP:0003287	Abnormality of mitochondrial metabolism	6182	MRPL12	OMIM:618951
HP:0003287	Abnormality of mitochondrial metabolism	60528	ELAC2	OMIM:615440
HP:0003287	Abnormality of mitochondrial metabolism	5428	POLG	OMIM:613662
HP:0003287	Abnormality of mitochondrial metabolism	51649	MRPS23	OMIM:618952
HP:0003287	Abnormality of mitochondrial metabolism	54802	TRIT1	OMIM:617873
HP:0003287	Abnormality of mitochondrial metabolism	119559	SFXN4	OMIM:615578
HP:0003287	Abnormality of mitochondrial metabolism	29960	MRM2	OMIM:618567
HP:0003287	Abnormality of mitochondrial metabolism	57505	AARS2	OMIM:614096
HP:0003287	Abnormality of mitochondrial metabolism	1468	SLC25A10	OMIM:618972
HP:0003287	Abnormality of mitochondrial metabolism	115286	SLC25A26	OMIM:616794
HP:0003287	Abnormality of mitochondrial metabolism	4713	NDUFB7	OMIM:620135
HP:0003287	Abnormality of mitochondrial metabolism	26235	FBXL4	OMIM:615471
HP:0003287	Abnormality of mitochondrial metabolism	1537	CYC1	OMIM:615453
HP:0003287	Abnormality of mitochondrial metabolism	63899	NSUN3	OMIM:619012
HP:0003287	Abnormality of mitochondrial metabolism	498	ATP5F1A	OMIM:616045
HP:0003287	Abnormality of mitochondrial metabolism	27089	UQCRQ	OMIM:615159
HP:0003287	Abnormality of mitochondrial metabolism	4724	NDUFS4	OMIM:252010
HP:0003287	Abnormality of mitochondrial metabolism	7084	TK2	OMIM:609560
HP:0003287	Abnormality of mitochondrial metabolism	54902	TTC19	OMIM:615157
HP:0003287	Abnormality of mitochondrial metabolism	7381	UQCRB	OMIM:615158
HP:0003287	Abnormality of mitochondrial metabolism	4358	MPV17	OMIM:256810
HP:0003287	Abnormality of mitochondrial metabolism	400916	CHCHD10	OMIM:616209
HP:0003287	Abnormality of mitochondrial metabolism	85476	GFM1	OMIM:609060
HP:0003287	Abnormality of mitochondrial metabolism	25821	MTO1	OMIM:614702
HP:0003287	Abnormality of mitochondrial metabolism	708	C1QBP	OMIM:617713
HP:0003287	Abnormality of mitochondrial metabolism	90624	LYRM7	OMIM:615838
HP:0003287	Abnormality of mitochondrial metabolism	124454	EARS2	OMIM:614924
HP:0003287	Abnormality of mitochondrial metabolism	54675	CRLS1	OMIM:620167
HP:0003287	Abnormality of mitochondrial metabolism	55750	AGK	OMIM:212350
HP:0003287	Abnormality of mitochondrial metabolism	10102	TSFM	OMIM:610505
HP:0003287	Abnormality of mitochondrial metabolism	23479	ISCU	OMIM:255125
HP:0003287	Abnormality of mitochondrial metabolism	1716	DGUOK	OMIM:251880
HP:0003287	Abnormality of mitochondrial metabolism	56945	MRPS22	OMIM:611719
HP:0003287	Abnormality of mitochondrial metabolism	8802	SUCLG1	OMIM:245400
HP:0003287	Abnormality of mitochondrial metabolism	8802	SUCLG1	ORPHA:17
HP:0003287	Abnormality of mitochondrial metabolism	29928	TIMM22	OMIM:618851
HP:0003287	Abnormality of mitochondrial metabolism	63931	MRPS14	OMIM:618378
HP:0003287	Abnormality of mitochondrial metabolism	79587	CARS2	ORPHA:477774
HP:0003287	Abnormality of mitochondrial metabolism	79587	CARS2	OMIM:616672
HP:0003287	Abnormality of mitochondrial metabolism	291	SLC25A4	OMIM:617184
HP:0003287	Abnormality of mitochondrial metabolism	25828	TXN2	ORPHA:478029
HP:0003287	Abnormality of mitochondrial metabolism	25828	TXN2	OMIM:616811
HP:0003287	Abnormality of mitochondrial metabolism	51067	YARS2	OMIM:613561
HP:0003287	Abnormality of mitochondrial metabolism	9054	NFS1	OMIM:619386
HP:0003287	Abnormality of mitochondrial metabolism	790955	UQCC3	OMIM:616111
HP:0003287	Abnormality of mitochondrial metabolism	125170	MIEF2	OMIM:619024
HP:0003287	Abnormality of mitochondrial metabolism	84340	GFM2	OMIM:618397
HP:0003287	Abnormality of mitochondrial metabolism	55278	QRSL1	OMIM:618835
HP:0003287	Abnormality of mitochondrial metabolism	388962	BOLA3	OMIM:614299
HP:0003287	Abnormality of mitochondrial metabolism	57570	TRMT5	OMIM:616539
HP:0003287	Abnormality of mitochondrial metabolism	84300	UQCC2	OMIM:615824
HP:0003287	Abnormality of mitochondrial metabolism	51021	MRPS16	OMIM:610498
HP:0003287	Abnormality of mitochondrial metabolism	57038	RARS2	OMIM:611523
HP:0003287	Abnormality of mitochondrial metabolism	7388	UQCRH	OMIM:620137
HP:0003287	Abnormality of mitochondrial metabolism	283459	GATC	OMIM:618839
HP:0003287	Abnormality of mitochondrial metabolism	617	BCS1L	OMIM:124000
HP:0003287	Abnormality of mitochondrial metabolism	54968	TMEM70	OMIM:614052
HP:0003287	Abnormality of mitochondrial metabolism	92609	TIMM50	ORPHA:505216
HP:0003287	Abnormality of mitochondrial metabolism	91574	MTRFR	OMIM:613559
HP:0003287	Abnormality of mitochondrial metabolism	513	ATP5F1D	OMIM:618120
HP:0003287	Abnormality of mitochondrial metabolism	514	ATP5F1E	OMIM:614053
HP:0003287	Abnormality of mitochondrial metabolism	91647	ATPAF2	OMIM:604273
HP:0003287	Abnormality of mitochondrial metabolism	1376	CPT2	OMIM:608836
HP:0003287	Abnormality of mitochondrial metabolism	1376	CPT2	ORPHA:228305
HP:0003287	Abnormality of mitochondrial metabolism	1376	CPT2	ORPHA:228308
HP:0003287	Abnormality of mitochondrial metabolism	4312	MMP1	ORPHA:79408
HP:0003287	Abnormality of mitochondrial metabolism	4703	NEB	OMIM:256030
HP:0003287	Abnormality of mitochondrial metabolism	7273	TTN	OMIM:611705
HP:0003287	Abnormality of mitochondrial metabolism	3030	HADHA	OMIM:609016
HP:0003287	Abnormality of mitochondrial metabolism	1593	CYP27A1	ORPHA:909
HP:0003287	Abnormality of mitochondrial metabolism	87178	PNPT1	ORPHA:319514
HP:0003287	Abnormality of mitochondrial metabolism	84277	DNAJC30	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4538	MT-ND4	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4512	MT-CO1	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4514	MT-CO3	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4519	MT-CYB	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4508	MT-ATP6	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4540	MT-ND5	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4541	MT-ND6	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	4539	MT-ND4L	ORPHA:104
HP:0003287	Abnormality of mitochondrial metabolism	5495	PPM1B	ORPHA:163693
HP:0003287	Abnormality of mitochondrial metabolism	6519	SLC3A1	ORPHA:163693
HP:0003287	Abnormality of mitochondrial metabolism	9581	PREPL	ORPHA:163693
HP:0003287	Abnormality of mitochondrial metabolism	79823	CAMKMT	ORPHA:163693
HP:0003292	Decreased serum leptin	4000	LMNA	ORPHA:280365
HP:0003292	Decreased serum leptin	4000	LMNA	ORPHA:740
HP:0003292	Decreased serum leptin	10269	ZMPSTE24	ORPHA:740
HP:0003292	Decreased serum leptin	26580	BSCL2	OMIM:269700
HP:0003292	Decreased serum leptin	3763	KCNJ6	OMIM:614098
HP:0003292	Decreased serum leptin	63924	CIDEC	ORPHA:435651
HP:0003292	Decreased serum leptin	63924	CIDEC	OMIM:615238
HP:0003292	Decreased serum leptin	3952	LEP	OMIM:614962
HP:0003292	Decreased serum leptin	3952	LEP	ORPHA:66628
HP:0003292	Decreased serum leptin	3991	LIPE	ORPHA:435660
HP:0003292	Decreased serum leptin	8815	BANF1	OMIM:614008
HP:0003292	Decreased serum leptin	3953	LEPR	ORPHA:179494
HP:0003292	Decreased serum leptin	208	AKT2	ORPHA:79085
HP:0003292	Decreased serum leptin	10555	AGPAT2	OMIM:608594
HP:0003296	Hyperthreoninuria	3000	GUCY2D	OMIM:204000
HP:0003298	Spina bifida occulta	57167	SALL4	ORPHA:233
HP:0003298	Spina bifida occulta	57167	SALL4	OMIM:607323
HP:0003298	Spina bifida occulta	9935	MAFB	ORPHA:233
HP:0003298	Spina bifida occulta	1123	CHN1	ORPHA:233
HP:0003298	Spina bifida occulta	6095	RORA	OMIM:618060
HP:0003298	Spina bifida occulta	3981	LIG4	ORPHA:235
HP:0003298	Spina bifida occulta	54888	NSUN2	ORPHA:235
HP:0003298	Spina bifida occulta	64840	PORCN	OMIM:305600
HP:0003298	Spina bifida occulta	9791	PTDSS1	OMIM:151050
HP:0003298	Spina bifida occulta	9158	FIBP	ORPHA:500095
HP:0003298	Spina bifida occulta	1387	CREBBP	OMIM:180849
HP:0003298	Spina bifida occulta	2033	EP300	OMIM:180849
HP:0003298	Spina bifida occulta	7148	TNXB	ORPHA:230839
HP:0003298	Spina bifida occulta	92002	CCNQ	OMIM:300707
HP:0003298	Spina bifida occulta	5648	MASP1	OMIM:257920
HP:0003298	Spina bifida occulta	5648	MASP1	ORPHA:293843
HP:0003298	Spina bifida occulta	91754	NEK9	ORPHA:64754
HP:0003298	Spina bifida occulta	60	ACTB	ORPHA:64755
HP:0003298	Spina bifida occulta	6804	STX1A	ORPHA:904
HP:0003298	Spina bifida occulta	7461	CLIP2	ORPHA:904
HP:0003298	Spina bifida occulta	84277	DNAJC30	ORPHA:904
HP:0003298	Spina bifida occulta	8468	FKBP6	ORPHA:904
HP:0003298	Spina bifida occulta	5982	RFC2	ORPHA:904
HP:0003298	Spina bifida occulta	2969	GTF2I	ORPHA:904
HP:0003298	Spina bifida occulta	3984	LIMK1	ORPHA:904
HP:0003298	Spina bifida occulta	9569	GTF2IRD1	ORPHA:904
HP:0003298	Spina bifida occulta	155382	VPS37D	ORPHA:904
HP:0003298	Spina bifida occulta	155368	METTL27	ORPHA:904
HP:0003298	Spina bifida occulta	114049	BUD23	ORPHA:904
HP:0003298	Spina bifida occulta	7458	EIF4H	ORPHA:904
HP:0003298	Spina bifida occulta	84163	GTF2IRD2	ORPHA:904
HP:0003298	Spina bifida occulta	9275	BCL7B	ORPHA:904
HP:0003298	Spina bifida occulta	26608	TBL2	ORPHA:904
HP:0003298	Spina bifida occulta	653361	NCF1	ORPHA:904
HP:0003298	Spina bifida occulta	135886	TMEM270	ORPHA:904
HP:0003298	Spina bifida occulta	51085	MLXIPL	ORPHA:904
HP:0003298	Spina bifida occulta	9031	BAZ1B	ORPHA:904
HP:0003298	Spina bifida occulta	2006	ELN	ORPHA:904
HP:0003298	Spina bifida occulta	145173	B3GLCT	ORPHA:709
HP:0003298	Spina bifida occulta	7545	ZIC1	OMIM:616602
HP:0003298	Spina bifida occulta	7545	ZIC1	OMIM:618736
HP:0003298	Spina bifida occulta	57216	VANGL2	OMIM:182940
HP:0003298	Spina bifida occulta	6347	CCL2	OMIM:182940
HP:0003298	Spina bifida occulta	81839	VANGL1	OMIM:182940
HP:0003298	Spina bifida occulta	6862	TBXT	OMIM:182940
HP:0003298	Spina bifida occulta	80199	FUZ	OMIM:182940
HP:0003298	Spina bifida occulta	5781	PTPN11	ORPHA:500
HP:0003298	Spina bifida occulta	5781	PTPN11	OMIM:151100
HP:0003298	Spina bifida occulta	673	BRAF	ORPHA:500
HP:0003298	Spina bifida occulta	5894	RAF1	ORPHA:500
HP:0003298	Spina bifida occulta	526	ATP6V1B2	ORPHA:79500
HP:0003298	Spina bifida occulta	57465	TBC1D24	ORPHA:79500
HP:0003298	Spina bifida occulta	80781	COL18A1	OMIM:267750
HP:0003298	Spina bifida occulta	8517	IKBKG	ORPHA:464
HP:0003298	Spina bifida occulta	1615	DARS1	OMIM:615281
HP:0003298	Spina bifida occulta	51715	RAB23	OMIM:201000
HP:0003298	Spina bifida occulta	51339	DACT1	OMIM:617466
HP:0003298	Spina bifida occulta	3664	IRF6	OMIM:119500
HP:0003298	Spina bifida occulta	6911	TBX6	ORPHA:1797
HP:0003298	Spina bifida occulta	100996717	NOTCH2NLC	ORPHA:2289
HP:0003298	Spina bifida occulta	139285	AMER1	OMIM:300373
HP:0003298	Spina bifida occulta	139285	AMER1	ORPHA:2780
HP:0003298	Spina bifida occulta	4621	MYH3	OMIM:193700
HP:0003298	Spina bifida occulta	4621	MYH3	ORPHA:2990
HP:0003298	Spina bifida occulta	57492	ARID1B	OMIM:135900
HP:0003298	Spina bifida occulta	3756	KCNH1	OMIM:135500
HP:0003298	Spina bifida occulta	650	BMP2	OMIM:617877
HP:0003298	Spina bifida occulta	134701	RIPPLY2	ORPHA:2311
HP:0003298	Spina bifida occulta	10683	DLL3	ORPHA:2311
HP:0003298	Spina bifida occulta	3955	LFNG	ORPHA:2311
HP:0003298	Spina bifida occulta	84667	HES7	ORPHA:2311
HP:0003298	Spina bifida occulta	84667	HES7	OMIM:613686
HP:0003298	Spina bifida occulta	145873	MESP2	ORPHA:2311
HP:0003298	Spina bifida occulta	10584	COLEC10	ORPHA:293843
HP:0003298	Spina bifida occulta	78989	COLEC11	ORPHA:293843
HP:0003298	Spina bifida occulta	9820	CUL7	OMIM:273750
HP:0003298	Spina bifida occulta	2316	FLNA	ORPHA:1826
HP:0003298	Spina bifida occulta	6885	MAP3K7	ORPHA:1826
HP:0003298	Spina bifida occulta	1146	CHRNG	ORPHA:2990
HP:0003298	Spina bifida occulta	3166	HMX1	OMIM:612109
HP:0003298	Spina bifida occulta	147372	CCBE1	OMIM:235510
HP:0003298	Spina bifida occulta	6223	RPS19	OMIM:105650
HP:0003298	Spina bifida occulta	23299	BICD2	OMIM:618291
HP:0003298	Spina bifida occulta	22827	PUF60	ORPHA:508488
HP:0003298	Spina bifida occulta	9401	RECQL4	OMIM:218600
HP:0003298	Spina bifida occulta	5422	POLA1	OMIM:301030
HP:0003298	Spina bifida occulta	2317	FLNB	OMIM:150250
HP:0003298	Spina bifida occulta	8621	CDK13	OMIM:617360
HP:0003298	Spina bifida occulta	860	RUNX2	ORPHA:1452
HP:0003298	Spina bifida occulta	51729	WBP11	OMIM:619227
HP:0410204	Increased intestinal transit time	55898	UNC45A	OMIM:619377
HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	8029	CUBN	ORPHA:35858
HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	81693	AMN	ORPHA:35858
HP:0410219	Hypoplasia of mandible relative to maxilla	404672	GTF2H5	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	833	CARS1	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	2068	ERCC2	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	7737	RNF113A	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	136647	MPLKIP	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	6897	TARS1	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	2071	ERCC3	ORPHA:33364
HP:0410219	Hypoplasia of mandible relative to maxilla	2961	GTF2E2	ORPHA:33364
HP:0400000	Tall chin	11011	TLK2	OMIM:618050
HP:0400000	Tall chin	4626	MYH8	OMIM:158300
HP:0400000	Tall chin	4983	OPHN1	ORPHA:137831
HP:0400000	Tall chin	1968	EIF2S3	OMIM:300148
HP:0400000	Tall chin	64324	NSD1	ORPHA:821
HP:0400000	Tall chin	29072	SETD2	ORPHA:821
HP:0400000	Tall chin	10297	APC2	ORPHA:821
HP:0400002	Extra concha fold	117581	TWIST2	OMIM:209885
HP:0400004	Long ear	51780	KDM3B	OMIM:618846
HP:0400004	Long ear	3703	STT3A	OMIM:619714
HP:0400004	Long ear	8726	EED	OMIM:617561
HP:0400004	Long ear	7476	WNT7A	OMIM:276820
HP:0400004	Long ear	1806	DPYD	ORPHA:293948
HP:0400004	Long ear	1984	EIF5A	OMIM:619376
HP:0400005	Short ear	23261	CAMTA1	OMIM:614756
HP:0400005	Short ear	23261	CAMTA1	ORPHA:314647
HP:0400005	Short ear	1387	CREBBP	OMIM:618332
HP:0400005	Short ear	5457	POU4F1	ORPHA:314647
HP:0400008	Menometrorrhagia	2243	FGA	ORPHA:98880
HP:0400008	Menometrorrhagia	2244	FGB	ORPHA:98880
HP:0400008	Menometrorrhagia	2266	FGG	ORPHA:98880
HP:0400008	Menometrorrhagia	3674	ITGA2B	ORPHA:849
HP:0400008	Menometrorrhagia	3690	ITGB3	ORPHA:849
HP:0410240	Abnormal circulating IgA level	3561	IL2RG	ORPHA:276
HP:0410240	Abnormal circulating IgA level	3561	IL2RG	OMIM:300400
HP:0410240	Abnormal circulating IgA level	1789	DNMT3B	OMIM:242860
HP:0410240	Abnormal circulating IgA level	64421	DCLRE1C	ORPHA:275
HP:0410240	Abnormal circulating IgA level	695	BTK	OMIM:300755
HP:0410240	Abnormal circulating IgA level	10043	TOM1	OMIM:619510
HP:0410240	Abnormal circulating IgA level	3572	IL6ST	OMIM:619752
HP:0410240	Abnormal circulating IgA level	930	CD19	OMIM:613493
HP:0410240	Abnormal circulating IgA level	930	CD19	OMIM:240500
HP:0410240	Abnormal circulating IgA level	10526	IPO8	OMIM:619472
HP:0410240	Abnormal circulating IgA level	51604	PIGT	ORPHA:369837
HP:0410240	Abnormal circulating IgA level	5295	PIK3R1	OMIM:616005
HP:0410240	Abnormal circulating IgA level	9841	ZBTB24	OMIM:614069
HP:0410240	Abnormal circulating IgA level	3932	LCK	OMIM:615758
HP:0410240	Abnormal circulating IgA level	6948	TCN2	OMIM:275350
HP:0410240	Abnormal circulating IgA level	6948	TCN2	ORPHA:859
HP:0410240	Abnormal circulating IgA level	987	LRBA	OMIM:614700
HP:0410240	Abnormal circulating IgA level	54440	SASH3	OMIM:301082
HP:0410240	Abnormal circulating IgA level	1457	CSNK2A1	OMIM:617062
HP:0410240	Abnormal circulating IgA level	57379	AICDA	OMIM:605258
HP:0410240	Abnormal circulating IgA level	60468	BACH2	OMIM:618394
HP:0410240	Abnormal circulating IgA level	84433	CARD11	OMIM:616452
HP:0410240	Abnormal circulating IgA level	83737	ITCH	OMIM:613385
HP:0410240	Abnormal circulating IgA level	974	CD79B	OMIM:612692
HP:0410240	Abnormal circulating IgA level	5788	PTPRC	OMIM:619924
HP:0410240	Abnormal circulating IgA level	4780	NFE2L2	OMIM:617744
HP:0410240	Abnormal circulating IgA level	641	BLM	OMIM:210900
HP:0410240	Abnormal circulating IgA level	641	BLM	ORPHA:125
HP:0410240	Abnormal circulating IgA level	841	CASP8	OMIM:607271
HP:0410240	Abnormal circulating IgA level	472	ATM	OMIM:208900
HP:0410240	Abnormal circulating IgA level	3543	IGLL1	OMIM:613500
HP:0410240	Abnormal circulating IgA level	5336	PLCG2	OMIM:614878
HP:0410240	Abnormal circulating IgA level	29760	BLNK	OMIM:613502
HP:0410240	Abnormal circulating IgA level	5294	PIK3CG	OMIM:619802
HP:0410240	Abnormal circulating IgA level	7841	MOGS	ORPHA:79330
HP:0410240	Abnormal circulating IgA level	7841	MOGS	OMIM:606056
HP:0410240	Abnormal circulating IgA level	29851	ICOS	OMIM:607594
HP:0410240	Abnormal circulating IgA level	29851	ICOS	OMIM:240500
HP:0410240	Abnormal circulating IgA level	7298	TYMS	OMIM:620040
HP:0410240	Abnormal circulating IgA level	23495	TNFRSF13B	OMIM:609529
HP:0410240	Abnormal circulating IgA level	23495	TNFRSF13B	OMIM:240500
HP:0410240	Abnormal circulating IgA level	84905	ZNF341	OMIM:618282
HP:0410240	Abnormal circulating IgA level	5966	REL	OMIM:619652
HP:0410240	Abnormal circulating IgA level	115650	TNFRSF13C	OMIM:240500
HP:0410240	Abnormal circulating IgA level	1380	CR2	OMIM:240500
HP:0410240	Abnormal circulating IgA level	1380	CR2	OMIM:614699
HP:0410240	Abnormal circulating IgA level	3978	LIG1	OMIM:619774
HP:0410240	Abnormal circulating IgA level	1493	CTLA4	OMIM:616100
HP:0410240	Abnormal circulating IgA level	4791	NFKB2	OMIM:615577
HP:0410240	Abnormal circulating IgA level	100	ADA	OMIM:102700
HP:0410240	Abnormal circulating IgA level	5896	RAG1	ORPHA:331206
HP:0410240	Abnormal circulating IgA level	5897	RAG2	ORPHA:331206
HP:0410240	Abnormal circulating IgA level	8792	TNFRSF11A	OMIM:612301
HP:0410240	Abnormal circulating IgA level	5557	PRIM1	OMIM:620005
HP:0410240	Abnormal circulating IgA level	3117	HLA-DQA1	OMIM:212750
HP:0410240	Abnormal circulating IgA level	3119	HLA-DQB1	OMIM:212750
HP:0410240	Abnormal circulating IgA level	3514	IGKC	ORPHA:183675
HP:0410240	Abnormal circulating IgA level	3501	IGHG2	ORPHA:183675
HP:0410240	Abnormal circulating IgA level	7374	UNG	OMIM:608106
HP:0410240	Abnormal circulating IgA level	958	CD40	OMIM:606843
HP:0410240	Abnormal circulating IgA level	2475	MTOR	ORPHA:457485
HP:0410240	Abnormal circulating IgA level	2475	MTOR	OMIM:616638
HP:0410240	Abnormal circulating IgA level	359948	IRF2BP2	OMIM:617765
HP:0410240	Abnormal circulating IgA level	6688	SPI1	OMIM:619707
HP:0410240	Abnormal circulating IgA level	6773	STAT2	OMIM:616636
HP:0410240	Abnormal circulating IgA level	284119	CAVIN1	OMIM:613327
HP:0410240	Abnormal circulating IgA level	6929	TCF3	OMIM:619824
HP:0410240	Abnormal circulating IgA level	3559	IL2RA	OMIM:606367
HP:0410240	Abnormal circulating IgA level	165918	RNF168	ORPHA:420741
HP:0410240	Abnormal circulating IgA level	5373	PMM2	OMIM:212065
HP:0410240	Abnormal circulating IgA level	355	FAS	ORPHA:3261
HP:0410240	Abnormal circulating IgA level	355	FAS	OMIM:601859
HP:0410240	Abnormal circulating IgA level	356	FASLG	ORPHA:3261
HP:0410240	Abnormal circulating IgA level	356	FASLG	OMIM:601859
HP:0410240	Abnormal circulating IgA level	5580	PRKCD	ORPHA:3261
HP:0410240	Abnormal circulating IgA level	843	CASP10	ORPHA:3261
HP:0410240	Abnormal circulating IgA level	843	CASP10	OMIM:603909
HP:0410240	Abnormal circulating IgA level	10125	RASGRP1	ORPHA:3261
HP:0410240	Abnormal circulating IgA level	10125	RASGRP1	OMIM:618534
HP:0410240	Abnormal circulating IgA level	7454	WAS	OMIM:301000
HP:0410240	Abnormal circulating IgA level	7454	WAS	OMIM:313900
HP:0410240	Abnormal circulating IgA level	90268	OTULIN	OMIM:617099
HP:0410240	Abnormal circulating IgA level	595	CCND1	ORPHA:29073
HP:0410240	Abnormal circulating IgA level	29775	CARD10	OMIM:619632
HP:0410240	Abnormal circulating IgA level	51371	POMP	OMIM:618048
HP:0410240	Abnormal circulating IgA level	8517	IKBKG	OMIM:300636
HP:0410240	Abnormal circulating IgA level	8517	IKBKG	OMIM:300291
HP:0410240	Abnormal circulating IgA level	4598	MVK	OMIM:260920
HP:0410240	Abnormal circulating IgA level	4598	MVK	ORPHA:343
HP:0410240	Abnormal circulating IgA level	5238	PGM3	ORPHA:443811
HP:0410240	Abnormal circulating IgA level	340061	STING1	OMIM:615934
HP:0410240	Abnormal circulating IgA level	959	CD40LG	OMIM:308230
HP:0410240	Abnormal circulating IgA level	3575	IL7R	ORPHA:169154
HP:0410240	Abnormal circulating IgA level	3594	IL12RB1	ORPHA:186
HP:0410240	Abnormal circulating IgA level	23534	TNPO3	ORPHA:186
HP:0410240	Abnormal circulating IgA level	3592	IL12A	ORPHA:186
HP:0410240	Abnormal circulating IgA level	6689	SPIB	ORPHA:186
HP:0410240	Abnormal circulating IgA level	5450	POU2AF1	ORPHA:186
HP:0410240	Abnormal circulating IgA level	9966	TNFSF15	ORPHA:186
HP:0410240	Abnormal circulating IgA level	79258	MMEL1	ORPHA:186
HP:0410240	Abnormal circulating IgA level	3663	IRF5	ORPHA:186
HP:0410240	Abnormal circulating IgA level	404672	GTF2H5	OMIM:616395
HP:0410240	Abnormal circulating IgA level	22861	NLRP1	OMIM:617388
HP:0410240	Abnormal circulating IgA level	5696	PSMB8	OMIM:256040
HP:0410240	Abnormal circulating IgA level	6850	SYK	OMIM:619381
HP:0410240	Abnormal circulating IgA level	10625	IVNS1ABP	OMIM:618969
HP:0410240	Abnormal circulating IgA level	915	CD3D	ORPHA:169160
HP:0410240	Abnormal circulating IgA level	916	CD3E	ORPHA:169160
HP:0410240	Abnormal circulating IgA level	919	CD247	ORPHA:169160
HP:0410240	Abnormal circulating IgA level	537	ATP6AP1	OMIM:300972
HP:0410240	Abnormal circulating IgA level	5293	PIK3CD	ORPHA:221139
HP:0410240	Abnormal circulating IgA level	90417	KNSTRN	ORPHA:221139
HP:0410240	Abnormal circulating IgA level	3718	JAK3	ORPHA:35078
HP:0410240	Abnormal circulating IgA level	567	B2M	OMIM:241600
HP:0410240	Abnormal circulating IgA level	79087	ALG12	ORPHA:79324
HP:0410241	Abnormal circulating IgE level	100	ADA	ORPHA:277
HP:0410241	Abnormal circulating IgE level	100	ADA	OMIM:102700
HP:0410241	Abnormal circulating IgE level	2137	EXTL3	ORPHA:508533
HP:0410241	Abnormal circulating IgE level	64170	CARD9	OMIM:212050
HP:0410241	Abnormal circulating IgE level	355	FAS	ORPHA:3261
HP:0410241	Abnormal circulating IgE level	356	FASLG	ORPHA:3261
HP:0410241	Abnormal circulating IgE level	5580	PRKCD	ORPHA:3261
HP:0410241	Abnormal circulating IgE level	843	CASP10	ORPHA:3261
HP:0410241	Abnormal circulating IgE level	10125	RASGRP1	ORPHA:3261
HP:0410241	Abnormal circulating IgE level	7454	WAS	OMIM:301000
HP:0410241	Abnormal circulating IgE level	7454	WAS	OMIM:313900
HP:0410241	Abnormal circulating IgE level	3071	NCKAP1L	OMIM:618982
HP:0410241	Abnormal circulating IgE level	3572	IL6ST	OMIM:619752
HP:0410241	Abnormal circulating IgE level	3572	IL6ST	OMIM:618523
HP:0410241	Abnormal circulating IgE level	29775	CARD10	OMIM:619632
HP:0410241	Abnormal circulating IgE level	10526	IPO8	OMIM:619472
HP:0410241	Abnormal circulating IgE level	1041	CDSN	ORPHA:90368
HP:0410241	Abnormal circulating IgE level	1041	CDSN	OMIM:270300
HP:0410241	Abnormal circulating IgE level	121391	KRT74	ORPHA:90368
HP:0410241	Abnormal circulating IgE level	6777	STAT5B	OMIM:618985
HP:0410241	Abnormal circulating IgE level	5238	PGM3	ORPHA:443811
HP:0410241	Abnormal circulating IgE level	5238	PGM3	OMIM:615816
HP:0410241	Abnormal circulating IgE level	3570	IL6R	OMIM:618944
HP:0410241	Abnormal circulating IgE level	50943	FOXP3	OMIM:304790
HP:0410241	Abnormal circulating IgE level	50943	FOXP3	ORPHA:37042
HP:0410241	Abnormal circulating IgE level	3857	KRT9	OMIM:144200
HP:0410241	Abnormal circulating IgE level	3575	IL7R	ORPHA:169154
HP:0410241	Abnormal circulating IgE level	6774	STAT3	OMIM:147060
HP:0410241	Abnormal circulating IgE level	6774	STAT3	ORPHA:2314
HP:0410241	Abnormal circulating IgE level	1294	COL7A1	ORPHA:89843
HP:0410241	Abnormal circulating IgE level	11005	SPINK5	OMIM:256500
HP:0410241	Abnormal circulating IgE level	11005	SPINK5	ORPHA:634
HP:0410241	Abnormal circulating IgE level	7297	TYK2	OMIM:611521
HP:0410241	Abnormal circulating IgE level	59067	IL21	OMIM:615767
HP:0410241	Abnormal circulating IgE level	51135	IRAK4	OMIM:607676
HP:0410241	Abnormal circulating IgE level	84905	ZNF341	OMIM:618282
HP:0410241	Abnormal circulating IgE level	2239	GPC4	ORPHA:373
HP:0410241	Abnormal circulating IgE level	2719	GPC3	ORPHA:373
HP:0410241	Abnormal circulating IgE level	7941	PLA2G7	OMIM:147050
HP:0410241	Abnormal circulating IgE level	50615	IL21R	OMIM:147050
HP:0410241	Abnormal circulating IgE level	3566	IL4R	OMIM:147050
HP:0410241	Abnormal circulating IgE level	2206	MS4A2	OMIM:147050
HP:0410241	Abnormal circulating IgE level	1956	EGFR	OMIM:616069
HP:0410241	Abnormal circulating IgE level	919	CD247	OMIM:610163
HP:0410241	Abnormal circulating IgE level	84433	CARD11	OMIM:617638
HP:0410241	Abnormal circulating IgE level	6868	ADAM17	OMIM:614328
HP:0410241	Abnormal circulating IgE level	64421	DCLRE1C	OMIM:602450
HP:0410241	Abnormal circulating IgE level	81704	DOCK8	OMIM:243700
HP:0410241	Abnormal circulating IgE level	81704	DOCK8	ORPHA:217390
HP:0410241	Abnormal circulating IgE level	56160	NSMCE3	OMIM:617241
HP:0410241	Abnormal circulating IgE level	7040	TGFB1	OMIM:618213
HP:0410241	Abnormal circulating IgE level	1828	DSG1	OMIM:615508
HP:0410241	Abnormal circulating IgE level	3559	IL2RA	OMIM:606367
HP:0410241	Abnormal circulating IgE level	3932	LCK	OMIM:615758
HP:0410241	Abnormal circulating IgE level	958	CD40	OMIM:606843
HP:0410241	Abnormal circulating IgE level	6929	TCF3	OMIM:619824
HP:0410241	Abnormal circulating IgE level	695	BTK	OMIM:300755
HP:0410241	Abnormal circulating IgE level	10043	TOM1	OMIM:619510
HP:0410241	Abnormal circulating IgE level	3561	IL2RG	OMIM:300400
HP:0410241	Abnormal circulating IgE level	959	CD40LG	OMIM:308230
HP:0410241	Abnormal circulating IgE level	60468	BACH2	OMIM:618394
HP:0410242	Abnormal circulating IgG level	3071	NCKAP1L	OMIM:618982
HP:0410242	Abnormal circulating IgG level	595	CCND1	ORPHA:29073
HP:0410242	Abnormal circulating IgG level	29775	CARD10	OMIM:619632
HP:0410242	Abnormal circulating IgG level	51371	POMP	OMIM:618048
HP:0410242	Abnormal circulating IgG level	10526	IPO8	OMIM:619472
HP:0410242	Abnormal circulating IgG level	5238	PGM3	ORPHA:443811
HP:0410242	Abnormal circulating IgG level	5238	PGM3	OMIM:615816
HP:0410242	Abnormal circulating IgG level	340061	STING1	OMIM:615934
HP:0410242	Abnormal circulating IgG level	3575	IL7R	ORPHA:169154
HP:0410242	Abnormal circulating IgG level	81704	DOCK8	OMIM:243700
HP:0410242	Abnormal circulating IgG level	7040	TGFB1	OMIM:618213
HP:0410242	Abnormal circulating IgG level	7174	TPP2	OMIM:619220
HP:0410242	Abnormal circulating IgG level	22861	NLRP1	OMIM:617388
HP:0410242	Abnormal circulating IgG level	3560	IL2RB	OMIM:618495
HP:0410242	Abnormal circulating IgG level	3459	IFNGR1	OMIM:209950
HP:0410242	Abnormal circulating IgG level	5696	PSMB8	OMIM:256040
HP:0410242	Abnormal circulating IgG level	2137	EXTL3	ORPHA:508533
HP:0410242	Abnormal circulating IgG level	3561	IL2RG	ORPHA:276
HP:0410242	Abnormal circulating IgG level	3561	IL2RG	OMIM:312863
HP:0410242	Abnormal circulating IgG level	3561	IL2RG	OMIM:300400
HP:0410242	Abnormal circulating IgG level	355	FAS	ORPHA:3261
HP:0410242	Abnormal circulating IgG level	356	FASLG	ORPHA:3261
HP:0410242	Abnormal circulating IgG level	5580	PRKCD	ORPHA:3261
HP:0410242	Abnormal circulating IgG level	843	CASP10	ORPHA:3261
HP:0410242	Abnormal circulating IgG level	10125	RASGRP1	ORPHA:3261
HP:0410242	Abnormal circulating IgG level	10125	RASGRP1	OMIM:618534
HP:0410242	Abnormal circulating IgG level	64421	DCLRE1C	ORPHA:275
HP:0410242	Abnormal circulating IgG level	695	BTK	OMIM:300755
HP:0410242	Abnormal circulating IgG level	10043	TOM1	OMIM:619510
HP:0410242	Abnormal circulating IgG level	3572	IL6ST	OMIM:619752
HP:0410242	Abnormal circulating IgG level	3702	ITK	OMIM:613011
HP:0410242	Abnormal circulating IgG level	115650	TNFRSF13C	OMIM:613494
HP:0410242	Abnormal circulating IgG level	115650	TNFRSF13C	OMIM:240500
HP:0410242	Abnormal circulating IgG level	5295	PIK3R1	OMIM:616005
HP:0410242	Abnormal circulating IgG level	9841	ZBTB24	OMIM:614069
HP:0410242	Abnormal circulating IgG level	5880	RAC2	OMIM:618986
HP:0410242	Abnormal circulating IgG level	5880	RAC2	OMIM:618987
HP:0410242	Abnormal circulating IgG level	3932	LCK	OMIM:615758
HP:0410242	Abnormal circulating IgG level	6948	TCN2	OMIM:275350
HP:0410242	Abnormal circulating IgG level	6948	TCN2	ORPHA:859
HP:0410242	Abnormal circulating IgG level	3570	IL6R	OMIM:618944
HP:0410242	Abnormal circulating IgG level	987	LRBA	OMIM:614700
HP:0410242	Abnormal circulating IgG level	8517	IKBKG	OMIM:301081
HP:0410242	Abnormal circulating IgG level	54440	SASH3	OMIM:301082
HP:0410242	Abnormal circulating IgG level	959	CD40LG	OMIM:308230
HP:0410242	Abnormal circulating IgG level	4796	TONSL	OMIM:271510
HP:0410242	Abnormal circulating IgG level	5293	PIK3CD	OMIM:619281
HP:0410242	Abnormal circulating IgG level	4247	MGAT2	ORPHA:79329
HP:0410242	Abnormal circulating IgG level	7555	CNBP	OMIM:602668
HP:0410242	Abnormal circulating IgG level	1457	CSNK2A1	OMIM:617062
HP:0410242	Abnormal circulating IgG level	57379	AICDA	OMIM:605258
HP:0410242	Abnormal circulating IgG level	374354	NHLRC2	OMIM:618278
HP:0410242	Abnormal circulating IgG level	60468	BACH2	OMIM:618394
HP:0410242	Abnormal circulating IgG level	974	CD79B	OMIM:612692
HP:0410242	Abnormal circulating IgG level	5788	PTPRC	OMIM:619924
HP:0410242	Abnormal circulating IgG level	11005	SPINK5	OMIM:256500
HP:0410242	Abnormal circulating IgG level	641	BLM	OMIM:210900
HP:0410242	Abnormal circulating IgG level	641	BLM	ORPHA:125
HP:0410242	Abnormal circulating IgG level	841	CASP8	OMIM:607271
HP:0410242	Abnormal circulating IgG level	472	ATM	OMIM:208900
HP:0410242	Abnormal circulating IgG level	59067	IL21	OMIM:615767
HP:0410242	Abnormal circulating IgG level	29760	BLNK	OMIM:613502
HP:0410242	Abnormal circulating IgG level	5294	PIK3CG	OMIM:619802
HP:0410242	Abnormal circulating IgG level	7841	MOGS	ORPHA:79330
HP:0410242	Abnormal circulating IgG level	3718	JAK3	ORPHA:35078
HP:0410242	Abnormal circulating IgG level	331	XIAP	OMIM:308240
HP:0410242	Abnormal circulating IgG level	4068	SH2D1A	OMIM:308240
HP:0410242	Abnormal circulating IgG level	29851	ICOS	OMIM:607594
HP:0410242	Abnormal circulating IgG level	29851	ICOS	OMIM:240500
HP:0410242	Abnormal circulating IgG level	7298	TYMS	OMIM:620040
HP:0410242	Abnormal circulating IgG level	57724	EPG5	OMIM:242840
HP:0410242	Abnormal circulating IgG level	57724	EPG5	ORPHA:1493
HP:0410242	Abnormal circulating IgG level	915	CD3D	ORPHA:169160
HP:0410242	Abnormal circulating IgG level	916	CD3E	ORPHA:169160
HP:0410242	Abnormal circulating IgG level	919	CD247	ORPHA:169160
HP:0410242	Abnormal circulating IgG level	65082	VPS33A	ORPHA:505248
HP:0410242	Abnormal circulating IgG level	5966	REL	OMIM:619652
HP:0410242	Abnormal circulating IgG level	55687	TRMU	OMIM:613070
HP:0410242	Abnormal circulating IgG level	23495	TNFRSF13B	OMIM:240500
HP:0410242	Abnormal circulating IgG level	3978	LIG1	OMIM:619774
HP:0410242	Abnormal circulating IgG level	6651	SON	ORPHA:500150
HP:0410242	Abnormal circulating IgG level	1493	CTLA4	OMIM:616100
HP:0410242	Abnormal circulating IgG level	4791	NFKB2	OMIM:615577
HP:0410242	Abnormal circulating IgG level	1503	CTPS1	OMIM:615897
HP:0410242	Abnormal circulating IgG level	7852	CXCR4	OMIM:193670
HP:0410242	Abnormal circulating IgG level	5896	RAG1	ORPHA:331206
HP:0410242	Abnormal circulating IgG level	5896	RAG1	OMIM:233650
HP:0410242	Abnormal circulating IgG level	5897	RAG2	ORPHA:331206
HP:0410242	Abnormal circulating IgG level	5897	RAG2	OMIM:233650
HP:0410242	Abnormal circulating IgG level	8792	TNFRSF11A	OMIM:612301
HP:0410242	Abnormal circulating IgG level	5557	PRIM1	OMIM:620005
HP:0410242	Abnormal circulating IgG level	3431	SP110	OMIM:235550
HP:0410242	Abnormal circulating IgG level	3514	IGKC	ORPHA:183675
HP:0410242	Abnormal circulating IgG level	3501	IGHG2	ORPHA:183675
HP:0410242	Abnormal circulating IgG level	79087	ALG12	OMIM:607143
HP:0410242	Abnormal circulating IgG level	51311	TLR8	OMIM:301078
HP:0410242	Abnormal circulating IgG level	2068	ERCC2	OMIM:601675
HP:0410242	Abnormal circulating IgG level	7374	UNG	OMIM:608106
HP:0410242	Abnormal circulating IgG level	958	CD40	OMIM:606843
HP:0410242	Abnormal circulating IgG level	567	B2M	OMIM:241600
HP:0410242	Abnormal circulating IgG level	8884	SLC5A6	OMIM:618973
HP:0410242	Abnormal circulating IgG level	96459	FNIP1	OMIM:619705
HP:0410242	Abnormal circulating IgG level	359948	IRF2BP2	OMIM:617765
HP:0410242	Abnormal circulating IgG level	6688	SPI1	OMIM:619707
HP:0410242	Abnormal circulating IgG level	9138	ARHGEF1	OMIM:618459
HP:0410242	Abnormal circulating IgG level	84888	SPPL2A	OMIM:619549
HP:0410242	Abnormal circulating IgG level	6929	TCF3	OMIM:619824
HP:0410242	Abnormal circulating IgG level	165918	RNF168	OMIM:611943
HP:0410242	Abnormal circulating IgG level	165918	RNF168	ORPHA:420741
HP:0410242	Abnormal circulating IgG level	8883	NAE1	OMIM:620210
HP:0410242	Abnormal circulating IgG level	5373	PMM2	OMIM:212065
HP:0410242	Abnormal circulating IgG level	100	ADA	OMIM:102700
HP:0410242	Abnormal circulating IgG level	6850	SYK	OMIM:619381
HP:0410242	Abnormal circulating IgG level	10625	IVNS1ABP	OMIM:618969
HP:0410242	Abnormal circulating IgG level	90417	KNSTRN	ORPHA:221139
HP:0410242	Abnormal circulating IgG level	975	CD81	OMIM:613496
HP:0410242	Abnormal circulating IgG level	930	CD19	OMIM:613493
HP:0410242	Abnormal circulating IgG level	537	ATP6AP1	OMIM:300972
HP:0410242	Abnormal circulating IgG level	931	MS4A1	OMIM:613495
HP:0410242	Abnormal circulating IgG level	64135	IFIH1	OMIM:619773
HP:0410242	Abnormal circulating IgG level	30011	SH3KBP1	OMIM:300310
HP:0410242	Abnormal circulating IgG level	917	CD3G	OMIM:615607
HP:0410242	Abnormal circulating IgG level	7737	RNF113A	OMIM:300953
HP:0410242	Abnormal circulating IgG level	1380	CR2	OMIM:614699
HP:0410242	Abnormal circulating IgG level	6773	STAT2	OMIM:616636
HP:0410242	Abnormal circulating IgG level	3394	IRF8	OMIM:226990
HP:0410243	Abnormal circulating IgM level	2137	EXTL3	ORPHA:508533
HP:0410243	Abnormal circulating IgM level	30011	SH3KBP1	OMIM:300310
HP:0410243	Abnormal circulating IgM level	355	FAS	ORPHA:3261
HP:0410243	Abnormal circulating IgM level	356	FASLG	ORPHA:3261
HP:0410243	Abnormal circulating IgM level	5580	PRKCD	ORPHA:3261
HP:0410243	Abnormal circulating IgM level	843	CASP10	ORPHA:3261
HP:0410243	Abnormal circulating IgM level	10125	RASGRP1	ORPHA:3261
HP:0410243	Abnormal circulating IgM level	7454	WAS	OMIM:301000
HP:0410243	Abnormal circulating IgM level	695	BTK	OMIM:300755
HP:0410243	Abnormal circulating IgM level	10043	TOM1	OMIM:619510
HP:0410243	Abnormal circulating IgM level	3572	IL6ST	OMIM:619752
HP:0410243	Abnormal circulating IgM level	930	CD19	OMIM:613493
HP:0410243	Abnormal circulating IgM level	930	CD19	OMIM:240500
HP:0410243	Abnormal circulating IgM level	8517	IKBKG	OMIM:300636
HP:0410243	Abnormal circulating IgM level	8517	IKBKG	OMIM:301081
HP:0410243	Abnormal circulating IgM level	115650	TNFRSF13C	OMIM:613494
HP:0410243	Abnormal circulating IgM level	115650	TNFRSF13C	OMIM:240500
HP:0410243	Abnormal circulating IgM level	51604	PIGT	ORPHA:369837
HP:0410243	Abnormal circulating IgM level	9841	ZBTB24	OMIM:614069
HP:0410243	Abnormal circulating IgM level	3932	LCK	OMIM:615758
HP:0410243	Abnormal circulating IgM level	5880	RAC2	OMIM:618987
HP:0410243	Abnormal circulating IgM level	6948	TCN2	OMIM:275350
HP:0410243	Abnormal circulating IgM level	6948	TCN2	ORPHA:859
HP:0410243	Abnormal circulating IgM level	3570	IL6R	OMIM:618944
HP:0410243	Abnormal circulating IgM level	987	LRBA	OMIM:614700
HP:0410243	Abnormal circulating IgM level	54440	SASH3	OMIM:301082
HP:0410243	Abnormal circulating IgM level	5293	PIK3CD	ORPHA:221139
HP:0410243	Abnormal circulating IgM level	5293	PIK3CD	OMIM:619281
HP:0410243	Abnormal circulating IgM level	90417	KNSTRN	ORPHA:221139
HP:0410243	Abnormal circulating IgM level	7555	CNBP	OMIM:602668
HP:0410243	Abnormal circulating IgM level	3561	IL2RG	OMIM:300400
HP:0410243	Abnormal circulating IgM level	60468	BACH2	OMIM:618394
HP:0410243	Abnormal circulating IgM level	84433	CARD11	OMIM:616452
HP:0410243	Abnormal circulating IgM level	84433	CARD11	OMIM:617638
HP:0410243	Abnormal circulating IgM level	974	CD79B	OMIM:612692
HP:0410243	Abnormal circulating IgM level	5788	PTPRC	OMIM:619924
HP:0410243	Abnormal circulating IgM level	641	BLM	OMIM:210900
HP:0410243	Abnormal circulating IgM level	641	BLM	ORPHA:125
HP:0410243	Abnormal circulating IgM level	841	CASP8	OMIM:607271
HP:0410243	Abnormal circulating IgM level	3543	IGLL1	OMIM:613500
HP:0410243	Abnormal circulating IgM level	5336	PLCG2	OMIM:614878
HP:0410243	Abnormal circulating IgM level	29760	BLNK	OMIM:613502
HP:0410243	Abnormal circulating IgM level	5294	PIK3CG	OMIM:619802
HP:0410243	Abnormal circulating IgM level	28956	LAMTOR2	OMIM:610798
HP:0410243	Abnormal circulating IgM level	7841	MOGS	ORPHA:79330
HP:0410243	Abnormal circulating IgM level	3718	JAK3	ORPHA:35078
HP:0410243	Abnormal circulating IgM level	29851	ICOS	OMIM:607594
HP:0410243	Abnormal circulating IgM level	29851	ICOS	OMIM:240500
HP:0410243	Abnormal circulating IgM level	7298	TYMS	OMIM:620040
HP:0410243	Abnormal circulating IgM level	23387	SIK3	OMIM:618162
HP:0410243	Abnormal circulating IgM level	51816	ADA2	OMIM:182410
HP:0410243	Abnormal circulating IgM level	23495	TNFRSF13B	OMIM:240500
HP:0410243	Abnormal circulating IgM level	1380	CR2	OMIM:240500
HP:0410243	Abnormal circulating IgM level	3978	LIG1	OMIM:619774
HP:0410243	Abnormal circulating IgM level	537	ATP6AP1	OMIM:300972
HP:0410243	Abnormal circulating IgM level	1493	CTLA4	OMIM:616100
HP:0410243	Abnormal circulating IgM level	4791	NFKB2	OMIM:615577
HP:0410243	Abnormal circulating IgM level	100	ADA	OMIM:102700
HP:0410243	Abnormal circulating IgM level	10625	IVNS1ABP	OMIM:618969
HP:0410243	Abnormal circulating IgM level	5896	RAG1	ORPHA:331206
HP:0410243	Abnormal circulating IgM level	5897	RAG2	ORPHA:331206
HP:0410243	Abnormal circulating IgM level	8792	TNFRSF11A	OMIM:612301
HP:0410243	Abnormal circulating IgM level	5426	POLE	OMIM:615139
HP:0410243	Abnormal circulating IgM level	5557	PRIM1	OMIM:620005
HP:0410243	Abnormal circulating IgM level	3514	IGKC	ORPHA:183675
HP:0410243	Abnormal circulating IgM level	3501	IGHG2	ORPHA:183675
HP:0410243	Abnormal circulating IgM level	79087	ALG12	OMIM:607143
HP:0410243	Abnormal circulating IgM level	6850	SYK	OMIM:619381
HP:0410243	Abnormal circulating IgM level	81704	DOCK8	OMIM:243700
HP:0410243	Abnormal circulating IgM level	96459	FNIP1	OMIM:619705
HP:0410243	Abnormal circulating IgM level	359948	IRF2BP2	OMIM:617765
HP:0410243	Abnormal circulating IgM level	6688	SPI1	OMIM:619707
HP:0410243	Abnormal circulating IgM level	6773	STAT2	OMIM:616636
HP:0410243	Abnormal circulating IgM level	9138	ARHGEF1	OMIM:618459
HP:0410243	Abnormal circulating IgM level	6929	TCF3	OMIM:619824
HP:0410243	Abnormal circulating IgM level	8883	NAE1	OMIM:620210
HP:0410243	Abnormal circulating IgM level	165918	RNF168	ORPHA:420741
HP:0410243	Abnormal circulating IgM level	2859	GPR35	ORPHA:171
HP:0410243	Abnormal circulating IgM level	10507	SEMA4D	ORPHA:171
HP:0410243	Abnormal circulating IgM level	4485	MST1	ORPHA:171
HP:0410243	Abnormal circulating IgM level	6925	TCF4	ORPHA:171
HP:0410243	Abnormal circulating IgM level	200942	KLHDC8B	OMIM:236000
HP:0410243	Abnormal circulating IgM level	1789	DNMT3B	OMIM:242860
HP:0410243	Abnormal circulating IgM level	65082	VPS33A	ORPHA:505248
HP:0410243	Abnormal circulating IgM level	65082	VPS33A	OMIM:617303
HP:0410243	Abnormal circulating IgM level	90268	OTULIN	OMIM:617099
HP:0410243	Abnormal circulating IgM level	919	CD247	OMIM:610163
HP:0410243	Abnormal circulating IgM level	5295	PIK3R1	OMIM:616005
HP:0410243	Abnormal circulating IgM level	5238	PGM3	OMIM:615816
HP:0410243	Abnormal circulating IgM level	57379	AICDA	OMIM:605258
HP:0410243	Abnormal circulating IgM level	7374	UNG	OMIM:608106
HP:0410243	Abnormal circulating IgM level	958	CD40	OMIM:606843
HP:0410243	Abnormal circulating IgM level	3594	IL12RB1	ORPHA:186
HP:0410243	Abnormal circulating IgM level	23534	TNPO3	ORPHA:186
HP:0410243	Abnormal circulating IgM level	3592	IL12A	ORPHA:186
HP:0410243	Abnormal circulating IgM level	6689	SPIB	ORPHA:186
HP:0410243	Abnormal circulating IgM level	5450	POU2AF1	ORPHA:186
HP:0410243	Abnormal circulating IgM level	9966	TNFSF15	ORPHA:186
HP:0410243	Abnormal circulating IgM level	79258	MMEL1	ORPHA:186
HP:0410243	Abnormal circulating IgM level	3663	IRF5	ORPHA:186
HP:0410243	Abnormal circulating IgM level	56160	NSMCE3	OMIM:617241
HP:0410243	Abnormal circulating IgM level	7174	TPP2	OMIM:619220
HP:0410243	Abnormal circulating IgM level	3459	IFNGR1	OMIM:209950
HP:0410243	Abnormal circulating IgM level	84888	SPPL2A	OMIM:619549
HP:0410243	Abnormal circulating IgM level	331	XIAP	OMIM:308240
HP:0410243	Abnormal circulating IgM level	4068	SH2D1A	OMIM:308240
HP:0410243	Abnormal circulating IgM level	4615	MYD88	ORPHA:33226
HP:0410243	Abnormal circulating IgM level	4615	MYD88	OMIM:153600
HP:0410243	Abnormal circulating IgM level	567	B2M	OMIM:241600
HP:0410243	Abnormal circulating IgM level	51371	POMP	OMIM:618048
HP:0410243	Abnormal circulating IgM level	959	CD40LG	OMIM:308230
HP:0410244	Abnormal circulating IgD level	4598	MVK	OMIM:260920
HP:0410244	Abnormal circulating IgD level	4598	MVK	OMIM:610377
HP:0410246	Increased circulating IgD level	4598	MVK	OMIM:260920
HP:0410246	Increased circulating IgD level	4598	MVK	OMIM:610377
HP:0410252	Chronic neutropenia	3579	CXCR2	OMIM:619407
HP:0410252	Chronic neutropenia	987	LRBA	OMIM:614700
HP:0410252	Chronic neutropenia	51645	PPIL1	OMIM:619301
HP:0410252	Chronic neutropenia	51362	CDC40	OMIM:619302
HP:0410252	Chronic neutropenia	9158	FIBP	ORPHA:500095
HP:0410252	Chronic neutropenia	134218	DNAJC21	ORPHA:811
HP:0410252	Chronic neutropenia	79631	EFL1	ORPHA:811
HP:0410252	Chronic neutropenia	51119	SBDS	ORPHA:811
HP:0410252	Chronic neutropenia	6729	SRP54	ORPHA:811
HP:0410252	Chronic neutropenia	2542	SLC37A4	ORPHA:79259
HP:0410253	Myeloid maturation arrest	81570	CLPB	OMIM:619813
HP:0410255	Transient neutropenia	9158	FIBP	OMIM:617107
HP:0410255	Transient neutropenia	9158	FIBP	ORPHA:500095
HP:0410255	Transient neutropenia	6688	SPI1	OMIM:619707
HP:0410255	Transient neutropenia	51135	IRAK4	OMIM:607676
HP:0410255	Transient neutropenia	134218	DNAJC21	ORPHA:811
HP:0410255	Transient neutropenia	79631	EFL1	ORPHA:811
HP:0410255	Transient neutropenia	51119	SBDS	ORPHA:811
HP:0410255	Transient neutropenia	6729	SRP54	ORPHA:811
HP:0410255	Transient neutropenia	81570	CLPB	ORPHA:445038
HP:0410256	Infection associated neutropenia	81570	CLPB	ORPHA:445038
HP:0410259	Hepatopulmonary fusion	745	MYRF	OMIM:618280
HP:0410262	Lower cranial nerve dysfunction	10342	TFG	ORPHA:90117
HP:0410263	Brain imaging abnormality	25978	CHMP2B	ORPHA:275864
HP:0410263	Brain imaging abnormality	25978	CHMP2B	ORPHA:100070
HP:0410263	Brain imaging abnormality	5663	PSEN1	ORPHA:275864
HP:0410263	Brain imaging abnormality	5663	PSEN1	ORPHA:100070
HP:0410263	Brain imaging abnormality	2896	GRN	ORPHA:275864
HP:0410263	Brain imaging abnormality	2896	GRN	ORPHA:100070
HP:0410263	Brain imaging abnormality	54664	TMEM106B	ORPHA:275864
HP:0410263	Brain imaging abnormality	54664	TMEM106B	ORPHA:100070
HP:0410263	Brain imaging abnormality	8878	SQSTM1	ORPHA:275864
HP:0410263	Brain imaging abnormality	4137	MAPT	ORPHA:275864
HP:0410263	Brain imaging abnormality	4137	MAPT	ORPHA:100070
HP:0410263	Brain imaging abnormality	54209	TREM2	ORPHA:275864
HP:0410263	Brain imaging abnormality	54209	TREM2	ORPHA:100070
HP:0410263	Brain imaging abnormality	7415	VCP	ORPHA:275864
HP:0410263	Brain imaging abnormality	7415	VCP	ORPHA:100070
HP:0410263	Brain imaging abnormality	8314	BAP1	ORPHA:2495
HP:0410263	Brain imaging abnormality	4771	NF2	ORPHA:2495
HP:0410263	Brain imaging abnormality	6598	SMARCB1	ORPHA:2495
HP:0410263	Brain imaging abnormality	5155	PDGFB	ORPHA:2495
HP:0410263	Brain imaging abnormality	84231	TRAF7	ORPHA:2495
HP:0410263	Brain imaging abnormality	6608	SMO	ORPHA:2495
HP:0410263	Brain imaging abnormality	207	AKT1	ORPHA:2495
HP:0410263	Brain imaging abnormality	5290	PIK3CA	ORPHA:2495
HP:0410263	Brain imaging abnormality	7015	TERT	ORPHA:2495
HP:0410263	Brain imaging abnormality	51684	SUFU	ORPHA:2495
HP:0410263	Brain imaging abnormality	6605	SMARCE1	ORPHA:2495
HP:0410263	Brain imaging abnormality	27235	COQ2	ORPHA:227510
HP:0410263	Brain imaging abnormality	27235	COQ2	ORPHA:98933
HP:0410263	Brain imaging abnormality	348	APOE	OMIM:606889
HP:0410263	Brain imaging abnormality	5664	PSEN2	OMIM:606889
HP:0410263	Brain imaging abnormality	38	ACAT1	ORPHA:134
HP:0410263	Brain imaging abnormality	135	ADORA2A	ORPHA:363549
HP:0410263	Brain imaging abnormality	1593	CYP27A1	ORPHA:909
HP:0410263	Brain imaging abnormality	137682	NDUFAF6	OMIM:618239
HP:0410263	Brain imaging abnormality	2917	GRM7	OMIM:618922
HP:0410263	Brain imaging abnormality	1267	CNP	OMIM:619071
HP:0410263	Brain imaging abnormality	2581	GALC	ORPHA:206436
HP:0410263	Brain imaging abnormality	5660	PSAP	ORPHA:206436
HP:0410263	Brain imaging abnormality	128240	NAXE	OMIM:617186
HP:0410263	Brain imaging abnormality	200205	IBA57	OMIM:615330
HP:0410263	Brain imaging abnormality	3735	KARS1	OMIM:619196
HP:0410263	Brain imaging abnormality	4558	MT-TF	ORPHA:550
HP:0410263	Brain imaging abnormality	4572	MT-TQ	ORPHA:550
HP:0410263	Brain imaging abnormality	4512	MT-CO1	ORPHA:550
HP:0410263	Brain imaging abnormality	4513	MT-CO2	ORPHA:550
HP:0410263	Brain imaging abnormality	4514	MT-CO3	ORPHA:550
HP:0410263	Brain imaging abnormality	4578	MT-TW	ORPHA:550
HP:0410263	Brain imaging abnormality	4540	MT-ND5	ORPHA:550
HP:0410263	Brain imaging abnormality	4541	MT-ND6	ORPHA:550
HP:0410263	Brain imaging abnormality	4535	MT-ND1	ORPHA:550
HP:0410263	Brain imaging abnormality	4538	MT-ND4	ORPHA:550
HP:0410263	Brain imaging abnormality	4567	MT-TL1	ORPHA:550
HP:0410263	Brain imaging abnormality	4574	MT-TS1	ORPHA:550
HP:0410263	Brain imaging abnormality	4575	MT-TS2	ORPHA:550
HP:0410263	Brain imaging abnormality	4564	MT-TH	ORPHA:550
HP:0410263	Brain imaging abnormality	10059	DNM1L	ORPHA:330050
HP:0410263	Brain imaging abnormality	51241	COX16	OMIM:619355
HP:0410263	Brain imaging abnormality	91574	MTRFR	ORPHA:254930
HP:0410263	Brain imaging abnormality	91574	MTRFR	OMIM:613559
HP:0410263	Brain imaging abnormality	51102	MECR	ORPHA:508093
HP:0410263	Brain imaging abnormality	57128	LYRM4	OMIM:615595
HP:0410263	Brain imaging abnormality	64116	SLC39A8	OMIM:616721
HP:0410263	Brain imaging abnormality	90624	LYRM7	OMIM:615838
HP:0410263	Brain imaging abnormality	10667	FARS2	OMIM:614946
HP:0410263	Brain imaging abnormality	57176	VARS2	OMIM:615917
HP:0410263	Brain imaging abnormality	8802	SUCLG1	OMIM:245400
HP:0410263	Brain imaging abnormality	6390	SDHB	OMIM:619224
HP:0410263	Brain imaging abnormality	84842	HPDL	OMIM:619026
HP:0410263	Brain imaging abnormality	5442	POLRMT	OMIM:619743
HP:0410263	Brain imaging abnormality	65993	MRPS34	OMIM:617664
HP:0410263	Brain imaging abnormality	1892	ECHS1	OMIM:616277
HP:0410263	Brain imaging abnormality	58472	SQOR	OMIM:619221
HP:0410263	Brain imaging abnormality	84340	GFM2	OMIM:618397
HP:0410263	Brain imaging abnormality	27429	HTRA2	OMIM:617248
HP:0410263	Brain imaging abnormality	4713	NDUFB7	OMIM:620135
HP:0410263	Brain imaging abnormality	3028	HSD17B10	ORPHA:391428
HP:0410263	Brain imaging abnormality	55210	ATAD3A	OMIM:617183
HP:0410263	Brain imaging abnormality	339983	NAT8L	OMIM:614063
HP:0410263	Brain imaging abnormality	8913	CACNA1G	ORPHA:458803
HP:0410263	Brain imaging abnormality	644096	SDHAF1	OMIM:619166
HP:0410263	Brain imaging abnormality	6392	SDHD	OMIM:619167
HP:0410263	Brain imaging abnormality	23219	FBXO28	OMIM:619777
HP:0410263	Brain imaging abnormality	93627	TBCK	OMIM:616900
HP:0410263	Brain imaging abnormality	8604	SLC25A12	OMIM:612949
HP:0410263	Brain imaging abnormality	84342	COG8	OMIM:611182
HP:0410263	Brain imaging abnormality	25915	NDUFAF3	ORPHA:70474
HP:0410263	Brain imaging abnormality	4714	NDUFB8	ORPHA:70474
HP:0410263	Brain imaging abnormality	4720	NDUFS2	ORPHA:70474
HP:0410263	Brain imaging abnormality	9997	SCO2	ORPHA:70474
HP:0410263	Brain imaging abnormality	6834	SURF1	ORPHA:70474
HP:0410263	Brain imaging abnormality	6535	SLC6A8	OMIM:300352
HP:0410263	Brain imaging abnormality	2593	GAMT	OMIM:612736
HP:0410263	Brain imaging abnormality	2628	GATM	OMIM:612718
HP:0410263	Brain imaging abnormality	7355	SLC35A2	ORPHA:356961
HP:0410263	Brain imaging abnormality	443	ASPA	OMIM:271900
HP:0410263	Brain imaging abnormality	443	ASPA	ORPHA:314911
HP:0410263	Brain imaging abnormality	54914	FOCAD	OMIM:619991
HP:0410263	Brain imaging abnormality	55768	NGLY1	OMIM:615273
HP:0410263	Brain imaging abnormality	11128	POLR3A	ORPHA:447896
HP:0410263	Brain imaging abnormality	5621	PRNP	ORPHA:356
HP:0410263	Brain imaging abnormality	1798	DPAGT1	ORPHA:86309
HP:0410263	Brain imaging abnormality	4524	MTHFR	ORPHA:395
HP:0410263	Brain imaging abnormality	7874	USP7	ORPHA:500055
HP:0410263	Brain imaging abnormality	1859	DYRK1A	ORPHA:268261
HP:0410263	Brain imaging abnormality	1859	DYRK1A	ORPHA:464311
HP:0410263	Brain imaging abnormality	123606	NIPA1	ORPHA:261183
HP:0410263	Brain imaging abnormality	7283	TUBG1	ORPHA:261183
HP:0410263	Brain imaging abnormality	81614	NIPA2	ORPHA:261183
HP:0410263	Brain imaging abnormality	84617	TUBB6	OMIM:617732
HP:0410263	Brain imaging abnormality	998	CDC42	ORPHA:487796
HP:0410263	Brain imaging abnormality	773	CACNA1A	ORPHA:2131
HP:0410263	Brain imaging abnormality	6507	SLC1A3	ORPHA:2131
HP:0410263	Brain imaging abnormality	477	ATP1A2	ORPHA:2131
HP:0410263	Brain imaging abnormality	478	ATP1A3	ORPHA:2131
HP:0410263	Brain imaging abnormality	6334	SCN8A	ORPHA:306
HP:0410263	Brain imaging abnormality	6334	SCN8A	ORPHA:31709
HP:0410263	Brain imaging abnormality	6326	SCN2A	ORPHA:306
HP:0410263	Brain imaging abnormality	112476	PRRT2	ORPHA:306
HP:0410263	Brain imaging abnormality	112476	PRRT2	ORPHA:31709
HP:0410263	Brain imaging abnormality	3785	KCNQ2	ORPHA:306
HP:0410263	Brain imaging abnormality	3786	KCNQ3	ORPHA:306
HP:0410263	Brain imaging abnormality	64324	NSD1	ORPHA:821
HP:0410263	Brain imaging abnormality	29072	SETD2	ORPHA:821
HP:0410263	Brain imaging abnormality	10297	APC2	ORPHA:821
HP:0410263	Brain imaging abnormality	56052	ALG1	ORPHA:79327
HP:0410263	Brain imaging abnormality	10743	RAI1	ORPHA:477817
HP:0410263	Brain imaging abnormality	80232	WDR26	ORPHA:513456
HP:0410263	Brain imaging abnormality	79813	EHMT1	ORPHA:261652
HP:0410263	Brain imaging abnormality	58508	KMT2C	ORPHA:261652
HP:0410263	Brain imaging abnormality	5138	PDE2A	ORPHA:31709
HP:0410263	Brain imaging abnormality	27086	FOXP1	ORPHA:391372
HP:0410263	Brain imaging abnormality	6492	SIM1	ORPHA:398079
HP:0410263	Brain imaging abnormality	2033	EP300	ORPHA:353284
HP:0410263	Brain imaging abnormality	10522	DEAF1	ORPHA:468620
HP:0410263	Brain imaging abnormality	23314	SATB2	ORPHA:576283
HP:0410263	Brain imaging abnormality	1725	DHPS	OMIM:618480
HP:0410263	Brain imaging abnormality	473	RERE	ORPHA:494344
HP:0410263	Brain imaging abnormality	65082	VPS33A	ORPHA:505248
HP:0410263	Brain imaging abnormality	215	ABCD1	ORPHA:139399
HP:0410263	Brain imaging abnormality	1387	CREBBP	ORPHA:353277
HP:0410263	Brain imaging abnormality	54551	MAGEL2	ORPHA:398069
HP:0410263	Brain imaging abnormality	55681	SCYL2	ORPHA:1143
HP:0410263	Brain imaging abnormality	84570	COL25A1	ORPHA:1143
HP:0410263	Brain imaging abnormality	57222	ERGIC1	ORPHA:1143
HP:0410263	Brain imaging abnormality	3376	IARS1	ORPHA:541423
HP:0410263	Brain imaging abnormality	686	BTD	ORPHA:79241
HP:0410263	Brain imaging abnormality	54704	PDP1	ORPHA:79246
HP:0410263	Brain imaging abnormality	79087	ALG12	ORPHA:79324
HP:0410263	Brain imaging abnormality	6513	SLC2A1	ORPHA:1942
HP:0410263	Brain imaging abnormality	8831	SYNGAP1	ORPHA:1942
HP:0410263	Brain imaging abnormality	1173	AP2M1	ORPHA:1942
HP:0410263	Brain imaging abnormality	6323	SCN1A	ORPHA:1942
HP:0410263	Brain imaging abnormality	340533	NEXMIF	ORPHA:1942
HP:0410263	Brain imaging abnormality	1106	CHD2	ORPHA:1942
HP:0410263	Brain imaging abnormality	6529	SLC6A1	ORPHA:1942
HP:0410263	Brain imaging abnormality	9451	EIF2AK3	ORPHA:1667
HP:0410263	Brain imaging abnormality	5649	RELN	ORPHA:101046
HP:0410263	Brain imaging abnormality	9211	LGI1	ORPHA:101046
HP:0410263	Brain imaging abnormality	9681	DEPDC5	ORPHA:101046
HP:0410263	Brain imaging abnormality	23309	SIN3B	ORPHA:500166
HP:0410263	Brain imaging abnormality	25942	SIN3A	ORPHA:500166
HP:0410263	Brain imaging abnormality	25970	SH2B1	ORPHA:261197
HP:0410263	Brain imaging abnormality	11277	TREX1	ORPHA:247691
HP:0410263	Brain imaging abnormality	4763	NF1	ORPHA:363700
HP:0410263	Brain imaging abnormality	4763	NF1	ORPHA:97685
HP:0410263	Brain imaging abnormality	1822	ATN1	OMIM:618494
HP:0410263	Brain imaging abnormality	10369	CACNG2	OMIM:614256
HP:0410263	Brain imaging abnormality	9894	TELO2	OMIM:616954
HP:0410263	Brain imaging abnormality	161742	SPRED1	ORPHA:137605
HP:0410263	Brain imaging abnormality	6638	SNRPN	ORPHA:411515
HP:0410263	Brain imaging abnormality	7337	UBE3A	ORPHA:411515
HP:0410263	Brain imaging abnormality	57194	ATP10A	ORPHA:411515
HP:0410263	Brain imaging abnormality	3145	HMBS	ORPHA:79276
HP:0410263	Brain imaging abnormality	54	ACP5	ORPHA:1855
HP:0410263	Brain imaging abnormality	79718	TBL1XR1	ORPHA:487825
HP:0410263	Brain imaging abnormality	5813	PURA	ORPHA:314655
HP:0410266	Visceral hemangioma	1387	CREBBP	OMIM:180849
HP:0410266	Visceral hemangioma	2033	EP300	OMIM:180849
HP:0410266	Visceral hemangioma	595	CCND1	OMIM:193300
HP:0410266	Visceral hemangioma	7428	VHL	OMIM:193300
HP:0410276	Supraumbilical raphe	63916	ELMO2	OMIM:606893
HP:0410279	Atrophic pituitary gland	54820	NDE1	ORPHA:2177
HP:0000802	Impotence	4221	MEN1	ORPHA:652
HP:0000802	Impotence	4221	MEN1	ORPHA:2965
HP:0000802	Impotence	1027	CDKN1B	ORPHA:652
HP:0000802	Impotence	1026	CDKN1A	ORPHA:652
HP:0000802	Impotence	1030	CDKN2B	ORPHA:652
HP:0000802	Impotence	1031	CDKN2C	ORPHA:652
HP:0000802	Impotence	2260	FGFR1	ORPHA:432
HP:0000802	Impotence	81848	SPRY4	ORPHA:432
HP:0000802	Impotence	128674	PROKR2	ORPHA:432
HP:0000802	Impotence	2253	FGF8	ORPHA:432
HP:0000802	Impotence	60675	PROK2	ORPHA:432
HP:0000802	Impotence	55636	CHD7	ORPHA:432
HP:0000802	Impotence	6870	TACR3	ORPHA:432
HP:0000802	Impotence	1848	DUSP6	ORPHA:432
HP:0000802	Impotence	26012	NSMF	ORPHA:432
HP:0000802	Impotence	55717	WDR11	ORPHA:432
HP:0000802	Impotence	9394	HS6ST1	ORPHA:432
HP:0000802	Impotence	2796	GNRH1	ORPHA:432
HP:0000802	Impotence	2798	GNRHR	ORPHA:432
HP:0000802	Impotence	84634	KISS1R	ORPHA:432
HP:0000802	Impotence	6866	TAC3	ORPHA:432
HP:0000802	Impotence	8822	FGF17	ORPHA:432
HP:0000802	Impotence	3814	KISS1	ORPHA:432
HP:0000802	Impotence	8913	CACNA1G	ORPHA:458803
HP:0000802	Impotence	2982	GUCY1A1	OMIM:615750
HP:0000802	Impotence	8314	BAP1	ORPHA:2495
HP:0000802	Impotence	4771	NF2	ORPHA:2495
HP:0000802	Impotence	6598	SMARCB1	ORPHA:2495
HP:0000802	Impotence	5155	PDGFB	ORPHA:2495
HP:0000802	Impotence	84231	TRAF7	ORPHA:2495
HP:0000802	Impotence	6608	SMO	ORPHA:2495
HP:0000802	Impotence	207	AKT1	ORPHA:2495
HP:0000802	Impotence	5290	PIK3CA	ORPHA:2495
HP:0000802	Impotence	7015	TERT	ORPHA:2495
HP:0000802	Impotence	51684	SUFU	ORPHA:2495
HP:0000802	Impotence	6605	SMARCE1	ORPHA:2495
HP:0000802	Impotence	4001	LMNB1	OMIM:169500
HP:0000802	Impotence	4001	LMNB1	ORPHA:99027
HP:0000802	Impotence	27235	COQ2	OMIM:146500
HP:0000802	Impotence	83550	GPR101	ORPHA:963
HP:0000802	Impotence	9049	AIP	ORPHA:963
HP:0000802	Impotence	9049	AIP	ORPHA:2965
HP:0000802	Impotence	7036	TFR2	OMIM:604250
HP:0000802	Impotence	2332	FMR1	ORPHA:93256
HP:0000802	Impotence	2332	FMR1	OMIM:300623
HP:0000802	Impotence	7276	TTR	OMIM:105210
HP:0000802	Impotence	7276	TTR	ORPHA:85447
HP:0000802	Impotence	5277	PIGA	ORPHA:447
HP:0000802	Impotence	724066	ATXN8	ORPHA:98760
HP:0000802	Impotence	6315	ATXN8OS	ORPHA:98760
HP:0000802	Impotence	26278	SACS	ORPHA:98
HP:0000802	Impotence	215	ABCD1	OMIM:300100
HP:0000802	Impotence	3074	HEXB	OMIM:268800
HP:0000802	Impotence	64072	CDH23	ORPHA:91347
HP:0000802	Impotence	64072	CDH23	ORPHA:2965
HP:0000802	Impotence	57817	HAMP	ORPHA:79230
HP:0000802	Impotence	148738	HJV	ORPHA:79230
HP:0000802	Impotence	30061	SLC40A1	OMIM:606069
HP:0000802	Impotence	3077	HFE	OMIM:235200
HP:0000802	Impotence	650	BMP2	OMIM:235200
HP:0000803	Renal cortical cysts	79848	CSPP1	ORPHA:397715
HP:0000803	Renal cortical cysts	9786	KIAA0586	ORPHA:397715
HP:0000803	Renal cortical cysts	80184	CEP290	OMIM:610188
HP:0000803	Renal cortical cysts	9526	MPDU1	OMIM:609180
HP:0000803	Renal cortical cysts	9526	MPDU1	ORPHA:79323
HP:0000803	Renal cortical cysts	9091	PIGQ	OMIM:618548
HP:0000803	Renal cortical cysts	10225	CD96	OMIM:211750
HP:0000803	Renal cortical cysts	2108	ETFA	OMIM:231680
HP:0000803	Renal cortical cysts	2109	ETFB	OMIM:231680
HP:0000803	Renal cortical cysts	2110	ETFDH	OMIM:231680
HP:0000803	Renal cortical cysts	1028	CDKN1C	OMIM:130650
HP:0000803	Renal cortical cysts	10984	KCNQ1OT1	OMIM:130650
HP:0000803	Renal cortical cysts	3481	IGF2	OMIM:130650
HP:0000803	Renal cortical cysts	3784	KCNQ1	OMIM:130650
HP:0000803	Renal cortical cysts	5828	PEX2	OMIM:614866
HP:0000803	Renal cortical cysts	284086	NEK8	OMIM:613824
HP:0000803	Renal cortical cysts	27130	INVS	OMIM:602088
HP:0000803	Renal cortical cysts	5189	PEX1	OMIM:214100
HP:0000803	Renal cortical cysts	9652	SKIC3	OMIM:222470
HP:0000804	Xanthine nephrolithiasis	7498	XDH	OMIM:278300
HP:0000804	Xanthine nephrolithiasis	4337	MOCS1	OMIM:252150
HP:0000804	Xanthine nephrolithiasis	4338	MOCS2	OMIM:252160
HP:0000805	Enuresis	6595	SMARCA2	OMIM:619293
HP:0000805	Enuresis	1741	DLG3	OMIM:300850
HP:0000805	Enuresis	6524	SLC5A2	ORPHA:69076
HP:0000805	Enuresis	54941	RNF125	OMIM:616260
HP:0000805	Enuresis	9860	LRIG2	OMIM:615112
HP:0000805	Enuresis	54757	FAM20A	OMIM:204690
HP:0000805	Enuresis	54757	FAM20A	ORPHA:1031
HP:0000805	Enuresis	3766	KCNJ10	OMIM:612780
HP:0000805	Enuresis	3766	KCNJ10	ORPHA:199343
HP:0000805	Enuresis	27086	FOXP1	OMIM:613670
HP:0000805	Enuresis	10165	SLC25A13	ORPHA:247585
HP:0000805	Enuresis	189	AGXT	ORPHA:93598
HP:0000805	Enuresis	1760	DMPK	ORPHA:589821
HP:0000805	Enuresis	7750	ZMYM2	OMIM:619522
HP:0000805	Enuresis	5442	POLRMT	OMIM:619743
HP:0000805	Enuresis	6559	SLC12A3	OMIM:263800
HP:0000805	Enuresis	6559	SLC12A3	ORPHA:358
HP:0000805	Enuresis	60495	HPSE2	OMIM:236730
HP:0000805	Enuresis	27031	NPHP3	OMIM:604387
HP:0000805	Enuresis	1801	DPH1	ORPHA:459061
HP:0000805	Enuresis	51085	MLXIPL	OMIM:194050
HP:0000805	Enuresis	2006	ELN	OMIM:194050
HP:0000805	Enuresis	1188	CLCNKB	ORPHA:358
HP:0000805	Enuresis	79152	FA2H	ORPHA:171629
HP:0000805	Enuresis	554	AVPR2	ORPHA:223
HP:0000805	Enuresis	359	AQP2	ORPHA:223
HP:0000805	Enuresis	23394	ADNP	OMIM:615873
HP:0000805	Enuresis	5575	PRKAR1B	OMIM:619680
HP:0000805	Enuresis	649	BMP1	OMIM:614856
HP:0000805	Enuresis	54796	BNC2	ORPHA:93110
HP:0000805	Enuresis	165918	RNF168	ORPHA:420741
HP:0000805	Enuresis	339855	KY	OMIM:617114
HP:0000807	Glandular hypospadias	3209	HOXA13	OMIM:176305
HP:0000807	Glandular hypospadias	8195	MKKS	ORPHA:2473
HP:0000807	Glandular hypospadias	10847	SRCAP	OMIM:136140
HP:0000807	Glandular hypospadias	10046	MAMLD1	ORPHA:456328
HP:0000807	Glandular hypospadias	4534	MTM1	ORPHA:456328
HP:0000807	Glandular hypospadias	389827	MYMK	ORPHA:1358
HP:0000807	Glandular hypospadias	101929726	MYMX	ORPHA:1358
HP:0000808	Penoscrotal hypospadias	745	MYRF	OMIM:618280
HP:0000808	Penoscrotal hypospadias	1717	DHCR7	OMIM:270400
HP:0000808	Penoscrotal hypospadias	3284	HSD3B2	OMIM:201810
HP:0000808	Penoscrotal hypospadias	3284	HSD3B2	ORPHA:90791
HP:0000808	Penoscrotal hypospadias	2516	NR5A1	OMIM:617480
HP:0000808	Penoscrotal hypospadias	2516	NR5A1	OMIM:612965
HP:0000808	Penoscrotal hypospadias	372	ARCN1	OMIM:617164
HP:0000808	Penoscrotal hypospadias	10584	COLEC10	OMIM:248340
HP:0000808	Penoscrotal hypospadias	10046	MAMLD1	ORPHA:456328
HP:0000808	Penoscrotal hypospadias	10046	MAMLD1	OMIM:300758
HP:0000808	Penoscrotal hypospadias	4534	MTM1	ORPHA:456328
HP:0000808	Penoscrotal hypospadias	3481	IGF2	OMIM:616489
HP:0000808	Penoscrotal hypospadias	1009	CDH11	ORPHA:1299
HP:0000808	Penoscrotal hypospadias	1009	CDH11	OMIM:211380
HP:0000808	Penoscrotal hypospadias	6736	SRY	ORPHA:1772
HP:0410280	Pediatric onset	3071	NCKAP1L	OMIM:618982
HP:0410280	Pediatric onset	51256	TBC1D7	OMIM:248000
HP:0410280	Pediatric onset	340533	NEXMIF	OMIM:300912
HP:0410280	Pediatric onset	1144	CHRND	OMIM:616322
HP:0410280	Pediatric onset	1144	CHRND	OMIM:616321
HP:0410280	Pediatric onset	2775	GNAO1	OMIM:615473
HP:0410280	Pediatric onset	2775	GNAO1	OMIM:617493
HP:0410280	Pediatric onset	23135	KDM6B	OMIM:618505
HP:0410280	Pediatric onset	79827	CLMP	OMIM:615237
HP:0410280	Pediatric onset	4593	MUSK	OMIM:616325
HP:0410280	Pediatric onset	7291	TWIST1	OMIM:123100
HP:0410280	Pediatric onset	7291	TWIST1	OMIM:180750
HP:0410280	Pediatric onset	23334	SZT2	OMIM:615476
HP:0410280	Pediatric onset	4919	ROR1	OMIM:617654
HP:0410280	Pediatric onset	9254	CACNA2D2	OMIM:618501
HP:0410280	Pediatric onset	4552	MTRR	OMIM:236270
HP:0410280	Pediatric onset	56704	JPH1	OMIM:607831
HP:0410280	Pediatric onset	161582	DNAAF4	OMIM:615482
HP:0410280	Pediatric onset	65993	MRPS34	OMIM:617664
HP:0410280	Pediatric onset	283489	CHAMP1	OMIM:616579
HP:0410280	Pediatric onset	1841	DTYMK	OMIM:619847
HP:0410280	Pediatric onset	6487	ST3GAL3	OMIM:615006
HP:0410280	Pediatric onset	166378	AFG2A	OMIM:616577
HP:0410280	Pediatric onset	7532	YWHAG	OMIM:617665
HP:0410280	Pediatric onset	55904	KMT2E	OMIM:618512
HP:0410280	Pediatric onset	51112	TRAPPC12	OMIM:617669
HP:0410280	Pediatric onset	1161	ERCC8	OMIM:216400
HP:0410280	Pediatric onset	1161	ERCC8	OMIM:614621
HP:0410280	Pediatric onset	79693	YRDC	OMIM:619609
HP:0410280	Pediatric onset	7054	TH	OMIM:605407
HP:0410280	Pediatric onset	1896	EDA	OMIM:305100
HP:0410280	Pediatric onset	55687	TRMU	OMIM:613070
HP:0410280	Pediatric onset	4318	MMP9	OMIM:613073
HP:0410280	Pediatric onset	23321	TRIM2	OMIM:615490
HP:0410280	Pediatric onset	818	CAMK2G	OMIM:618522
HP:0410280	Pediatric onset	54453	RIN2	OMIM:613075
HP:0410280	Pediatric onset	5105	PCK1	OMIM:261680
HP:0410280	Pediatric onset	6884	TAF13	OMIM:617432
HP:0410280	Pediatric onset	6844	VAMP2	OMIM:618760
HP:0410280	Pediatric onset	64834	ELOVL1	OMIM:618527
HP:0410280	Pediatric onset	7852	CXCR4	OMIM:193670
HP:0410280	Pediatric onset	11232	POLG2	OMIM:618528
HP:0410280	Pediatric onset	1759	DNM1	OMIM:616346
HP:0410280	Pediatric onset	1759	DNM1	OMIM:620352
HP:0410280	Pediatric onset	3064	HTT	OMIM:617435
HP:0410280	Pediatric onset	7436	VLDLR	OMIM:224050
HP:0410280	Pediatric onset	90167	FRMD7	OMIM:310700
HP:0410280	Pediatric onset	1716	DGUOK	OMIM:251880
HP:0410280	Pediatric onset	1105	CHD1	OMIM:617682
HP:0410280	Pediatric onset	8789	FBP2	OMIM:619864
HP:0410280	Pediatric onset	23327	NEDD4L	OMIM:617201
HP:0410280	Pediatric onset	5073	PARN	OMIM:616353
HP:0410280	Pediatric onset	58484	NLRC4	OMIM:616115
HP:0410280	Pediatric onset	284184	NDUFAF8	OMIM:618776
HP:0410280	Pediatric onset	4247	MGAT2	OMIM:212066
HP:0410280	Pediatric onset	167691	LCA5	OMIM:604537
HP:0410280	Pediatric onset	30009	TBX21	OMIM:619630
HP:0410280	Pediatric onset	55768	NGLY1	OMIM:615273
HP:0410280	Pediatric onset	26038	CHD5	OMIM:619873
HP:0410280	Pediatric onset	5034	P4HB	OMIM:112240
HP:0410280	Pediatric onset	8482	SEMA7A	OMIM:619874
HP:0410280	Pediatric onset	55621	TRMT1	OMIM:618302
HP:0410280	Pediatric onset	23126	POGZ	OMIM:616364
HP:0410280	Pediatric onset	55773	TBC1D23	OMIM:617695
HP:0410280	Pediatric onset	57680	CHD8	OMIM:615032
HP:0410280	Pediatric onset	3769	KCNJ13	OMIM:614186
HP:0410280	Pediatric onset	92609	TIMM50	OMIM:617698
HP:0410280	Pediatric onset	51692	CPSF3	OMIM:619876
HP:0410280	Pediatric onset	116115	ZNF526	OMIM:619877
HP:0410280	Pediatric onset	7173	TPO	OMIM:274500
HP:0410280	Pediatric onset	5244	ABCB4	OMIM:602347
HP:0410280	Pediatric onset	54828	BCAS3	OMIM:619641
HP:0410280	Pediatric onset	122961	ISCA2	OMIM:616370
HP:0410280	Pediatric onset	8989	TRPA1	OMIM:615040
HP:0410280	Pediatric onset	56098	PCDHGC4	OMIM:619880
HP:0410280	Pediatric onset	11311	VPS45	OMIM:615285
HP:0410280	Pediatric onset	113179	ADAT3	OMIM:615286
HP:0410280	Pediatric onset	1742	DLG4	OMIM:618793
HP:0410280	Pediatric onset	2904	GRIN2B	OMIM:616139
HP:0410280	Pediatric onset	4285	MIPEP	OMIM:617228
HP:0410280	Pediatric onset	641	BLM	OMIM:210900
HP:0410280	Pediatric onset	79971	WLS	OMIM:619648
HP:0410280	Pediatric onset	6901	TAFAZZIN	OMIM:302060
HP:0410280	Pediatric onset	57609	DIP2B	OMIM:136630
HP:0410280	Pediatric onset	4488	MSX2	OMIM:604757
HP:0410280	Pediatric onset	4351	MPI	OMIM:602579
HP:0410280	Pediatric onset	92749	DRC1	OMIM:615294
HP:0410280	Pediatric onset	7143	TNR	OMIM:619653
HP:0410280	Pediatric onset	5917	RARS1	OMIM:616140
HP:0410280	Pediatric onset	125988	MICOS13	OMIM:618329
HP:0410280	Pediatric onset	8565	YARS1	OMIM:619418
HP:0410280	Pediatric onset	6572	SLC18A3	OMIM:617239
HP:0410280	Pediatric onset	5741	PTH	OMIM:146200
HP:0410280	Pediatric onset	6533	SLC6A6	OMIM:145350
HP:0410280	Pediatric onset	6476	SI	OMIM:222900
HP:0410280	Pediatric onset	10533	ATG7	OMIM:619422
HP:0410280	Pediatric onset	205327	C2orf69	OMIM:619423
HP:0410280	Pediatric onset	1523	CUX1	OMIM:618330
HP:0410280	Pediatric onset	51693	TRAPPC2L	OMIM:618331
HP:0410280	Pediatric onset	120	ADD3	OMIM:617008
HP:0410280	Pediatric onset	7535	ZAP70	OMIM:617006
HP:0410280	Pediatric onset	7535	ZAP70	OMIM:269840
HP:0410280	Pediatric onset	3242	HPD	OMIM:276710
HP:0410280	Pediatric onset	3242	HPD	OMIM:140350
HP:0410280	Pediatric onset	8322	FZD4	OMIM:133780
HP:0410280	Pediatric onset	4041	LRP5	OMIM:133780
HP:0410280	Pediatric onset	4041	LRP5	OMIM:259770
HP:0410280	Pediatric onset	4041	LRP5	OMIM:601813
HP:0410280	Pediatric onset	9949	AMMECR1	OMIM:300990
HP:0410280	Pediatric onset	57459	GATAD2B	OMIM:615074
HP:0410280	Pediatric onset	1291	COL6A1	OMIM:254090
HP:0410280	Pediatric onset	84894	LINGO1	OMIM:618103
HP:0410280	Pediatric onset	7053	TGM3	OMIM:617251
HP:0410280	Pediatric onset	160418	TMTC3	OMIM:617255
HP:0410280	Pediatric onset	10765	KDM5B	OMIM:618109
HP:0410280	Pediatric onset	10564	ARFGEF2	OMIM:608097
HP:0410280	Pediatric onset	10785	WDR4	OMIM:618347
HP:0410280	Pediatric onset	4967	OGDH	OMIM:203740
HP:0410280	Pediatric onset	6418	SET	OMIM:618106
HP:0410280	Pediatric onset	3081	HGD	OMIM:203500
HP:0410280	Pediatric onset	9526	MPDU1	OMIM:609180
HP:0410280	Pediatric onset	8737	RIPK1	OMIM:618108
HP:0410280	Pediatric onset	4703	NEB	OMIM:256030
HP:0410280	Pediatric onset	959	CD40LG	OMIM:308230
HP:0410280	Pediatric onset	1120	CHKB	OMIM:602541
HP:0410280	Pediatric onset	5575	PRKAR1B	OMIM:619680
HP:0410280	Pediatric onset	4312	MMP1	OMIM:226600
HP:0410280	Pediatric onset	64801	ARV1	OMIM:617020
HP:0410280	Pediatric onset	6647	SOD1	OMIM:618598
HP:0410280	Pediatric onset	116461	TSEN15	OMIM:617026
HP:0410280	Pediatric onset	5568	PRKACG	OMIM:616176
HP:0410280	Pediatric onset	23043	TNIK	OMIM:617028
HP:0410280	Pediatric onset	64065	PERP	OMIM:619208
HP:0410280	Pediatric onset	154881	KCTD7	OMIM:611726
HP:0410280	Pediatric onset	57190	SELENON	OMIM:602771
HP:0410280	Pediatric onset	79709	COLGALT1	OMIM:618360
HP:0410280	Pediatric onset	55777	MBD5	OMIM:156200
HP:0410280	Pediatric onset	55250	ELP2	OMIM:617270
HP:0410280	Pediatric onset	51132	RLIM	OMIM:300978
HP:0410280	Pediatric onset	10588	MTHFS	OMIM:618367
HP:0410280	Pediatric onset	51434	ANAPC7	OMIM:619699
HP:0410280	Pediatric onset	6601	SMARCC2	OMIM:618362
HP:0410280	Pediatric onset	4052	LTBP1	OMIM:619451
HP:0410280	Pediatric onset	92255	LMBRD2	OMIM:619694
HP:0410280	Pediatric onset	7468	NSD2	OMIM:619695
HP:0410280	Pediatric onset	8120	AP3B2	OMIM:617276
HP:0410280	Pediatric onset	267010	RNU12	OMIM:620208
HP:0410280	Pediatric onset	3054	HCFC1	OMIM:309541
HP:0410280	Pediatric onset	819	CAMLG	OMIM:620201
HP:0410280	Pediatric onset	4647	MYO7A	OMIM:276900
HP:0410280	Pediatric onset	10083	USH1C	OMIM:276900
HP:0410280	Pediatric onset	51608	GET4	OMIM:620200
HP:0410280	Pediatric onset	549	AUH	OMIM:250950
HP:0410280	Pediatric onset	3735	KARS1	OMIM:613916
HP:0410280	Pediatric onset	56776	FMN2	OMIM:616193
HP:0410280	Pediatric onset	2068	ERCC2	OMIM:601675
HP:0410280	Pediatric onset	2064	ERBB2	OMIM:619465
HP:0410280	Pediatric onset	254428	SLC41A1	OMIM:619468
HP:0410280	Pediatric onset	9758	FRMPD4	OMIM:300983
HP:0410280	Pediatric onset	23328	SASH1	OMIM:618373
HP:0410280	Pediatric onset	23328	SASH1	OMIM:127500
HP:0410280	Pediatric onset	4761	NEUROD2	OMIM:618374
HP:0410280	Pediatric onset	3188	HNRNPH2	OMIM:300986
HP:0410280	Pediatric onset	9971	NR1H4	OMIM:617049
HP:0410280	Pediatric onset	208	AKT2	OMIM:240900
HP:0410280	Pediatric onset	4548	MTR	OMIM:250940
HP:0410280	Pediatric onset	55186	SLC25A36	OMIM:620211
HP:0410280	Pediatric onset	9294	S1PR2	OMIM:610419
HP:0410280	Pediatric onset	83480	PUS3	OMIM:617051
HP:0410280	Pediatric onset	11212	PLPBP	OMIM:617290
HP:0410280	Pediatric onset	55975	KLHL7	OMIM:617055
HP:0410280	Pediatric onset	57498	KIDINS220	OMIM:617296
HP:0410280	Pediatric onset	8991	SELENBP1	OMIM:618148
HP:0410280	Pediatric onset	100996717	NOTCH2NLC	OMIM:619473
HP:0410280	Pediatric onset	94005	PIGS	OMIM:618143
HP:0410280	Pediatric onset	83706	FERMT3	OMIM:612840
HP:0410280	Pediatric onset	8452	CUL3	OMIM:619239
HP:0410280	Pediatric onset	9968	MED12	OMIM:309520
HP:0410280	Pediatric onset	11198	SUPT16H	OMIM:619480
HP:0410280	Pediatric onset	8720	MBTPS1	OMIM:618392
HP:0410280	Pediatric onset	1457	CSNK2A1	OMIM:617062
HP:0410280	Pediatric onset	5058	PAK1	OMIM:618158
HP:0410280	Pediatric onset	200931	SLC51A	OMIM:619484
HP:0410280	Pediatric onset	1654	DDX3X	OMIM:300958
HP:0410280	Pediatric onset	54977	SLC25A38	OMIM:205950
HP:0410280	Pediatric onset	23096	IQSEC2	OMIM:309530
HP:0410280	Pediatric onset	91662	NLRP12	OMIM:611762
HP:0410280	Pediatric onset	7284	TUFM	OMIM:610678
HP:0410280	Pediatric onset	3921	RPSA	OMIM:271400
HP:0410280	Pediatric onset	26278	SACS	OMIM:270550
HP:0410280	Pediatric onset	50964	SOST	OMIM:122860
HP:0410280	Pediatric onset	55599	RNPC3	OMIM:618160
HP:0410280	Pediatric onset	80267	EDEM3	OMIM:619493
HP:0410280	Pediatric onset	5805	PTS	OMIM:261640
HP:0410280	Pediatric onset	84231	TRAF7	OMIM:618164
HP:0410280	Pediatric onset	63899	NSUN3	OMIM:619012
HP:0410280	Pediatric onset	7157	TP53	OMIM:618165
HP:0410280	Pediatric onset	1315	COPB1	OMIM:619255
HP:0410280	Pediatric onset	26276	VPS33B	OMIM:620009
HP:0410280	Pediatric onset	26276	VPS33B	OMIM:620010
HP:0410280	Pediatric onset	8831	SYNGAP1	OMIM:612621
HP:0410280	Pediatric onset	11043	MID2	OMIM:300928
HP:0410280	Pediatric onset	81615	TMEM163	OMIM:620243
HP:0410280	Pediatric onset	84081	NSRP1	OMIM:620001
HP:0410280	Pediatric onset	3858	KRT10	OMIM:146600
HP:0410280	Pediatric onset	4644	MYO5A	OMIM:214450
HP:0410280	Pediatric onset	5903	RANBP2	OMIM:608033
HP:0410280	Pediatric onset	2801	GOLGA2	OMIM:620240
HP:0410280	Pediatric onset	64432	MRPS25	OMIM:619025
HP:0410280	Pediatric onset	5860	QDPR	OMIM:261630
HP:0410280	Pediatric onset	375056	MIA3	OMIM:619269
HP:0410280	Pediatric onset	56947	MFF	OMIM:617086
HP:0410280	Pediatric onset	1496	CTNNA2	OMIM:618174
HP:0410280	Pediatric onset	3785	KCNQ2	OMIM:613720
HP:0410280	Pediatric onset	23236	PLCB1	OMIM:613722
HP:0410280	Pediatric onset	27445	PCLO	OMIM:608027
HP:0410280	Pediatric onset	2760	GM2A	OMIM:272750
HP:0410280	Pediatric onset	5138	PDE2A	OMIM:619150
HP:0410280	Pediatric onset	6535	SLC6A8	OMIM:300352
HP:0410280	Pediatric onset	1183	CLCN4	OMIM:300114
HP:0410280	Pediatric onset	9722	NOS1AP	OMIM:619155
HP:0410280	Pediatric onset	27178	IL37	OMIM:619398
HP:0410280	Pediatric onset	23241	PACS2	OMIM:618067
HP:0410280	Pediatric onset	80308	FLAD1	OMIM:255100
HP:0410280	Pediatric onset	10312	TCIRG1	OMIM:259700
HP:0410280	Pediatric onset	25821	MTO1	OMIM:614702
HP:0410280	Pediatric onset	781	CACNA2D1	OMIM:620149
HP:0410280	Pediatric onset	6165	RPL35A	OMIM:612528
HP:0410280	Pediatric onset	10093	ARPC4	OMIM:620141
HP:0410280	Pediatric onset	146167	SLC38A8	OMIM:609218
HP:0410280	Pediatric onset	2623	GATA1	OMIM:300367
HP:0410280	Pediatric onset	2623	GATA1	OMIM:300835
HP:0410280	Pediatric onset	51506	UFC1	OMIM:618076
HP:0410280	Pediatric onset	644096	SDHAF1	OMIM:619166
HP:0410280	Pediatric onset	10978	CLP1	OMIM:615803
HP:0410280	Pediatric onset	1410	CRYAB	OMIM:613869
HP:0410280	Pediatric onset	271	AMPD2	OMIM:615809
HP:0410280	Pediatric onset	771	CA12	OMIM:143860
HP:0410280	Pediatric onset	6197	RPS6KA3	OMIM:303600
HP:0410280	Pediatric onset	4001	LMNB1	OMIM:619179
HP:0410280	Pediatric onset	8913	CACNA1G	OMIM:618087
HP:0410280	Pediatric onset	3766	KCNJ10	OMIM:612780
HP:0410280	Pediatric onset	1272	CNTN1	OMIM:612540
HP:0410280	Pediatric onset	5119	CHMP1A	OMIM:614961
HP:0410280	Pediatric onset	966	CD59	OMIM:612300
HP:0410280	Pediatric onset	8792	TNFRSF11A	OMIM:612301
HP:0410280	Pediatric onset	3953	LEPR	OMIM:614963
HP:0410280	Pediatric onset	26504	CNNM4	OMIM:217080
HP:0410280	Pediatric onset	23325	WASHC4	OMIM:615817
HP:0410280	Pediatric onset	54675	CRLS1	OMIM:620167
HP:0410280	Pediatric onset	56984	PSMG2	OMIM:619183
HP:0410280	Pediatric onset	815	CAMK2A	OMIM:618095
HP:0410280	Pediatric onset	815	CAMK2A	OMIM:617798
HP:0410280	Pediatric onset	23116	TOGARAM1	OMIM:619185
HP:0410280	Pediatric onset	64919	BCL11B	OMIM:618092
HP:0410280	Pediatric onset	6389	SDHA	OMIM:613642
HP:0410280	Pediatric onset	6389	SDHA	OMIM:252011
HP:0410280	Pediatric onset	1591	CYP24A1	OMIM:143880
HP:0410280	Pediatric onset	4915	NTRK2	OMIM:613886
HP:0410280	Pediatric onset	23314	SATB2	OMIM:612313
HP:0410280	Pediatric onset	113235	SLC46A1	OMIM:229050
HP:0410280	Pediatric onset	51293	CD320	OMIM:613646
HP:0410280	Pediatric onset	54872	PIGG	OMIM:616917
HP:0410280	Pediatric onset	79053	ALG8	OMIM:608104
HP:0410280	Pediatric onset	10522	DEAF1	OMIM:615828
HP:0410280	Pediatric onset	10522	DEAF1	OMIM:617171
HP:0410280	Pediatric onset	9907	AP5Z1	OMIM:613647
HP:0410280	Pediatric onset	30011	SH3KBP1	OMIM:300310
HP:0410280	Pediatric onset	26053	AUTS2	OMIM:615834
HP:0410280	Pediatric onset	10846	PDE10A	OMIM:616921
HP:0410280	Pediatric onset	3588	IL10RB	OMIM:612567
HP:0410280	Pediatric onset	1650	DDOST	OMIM:614507
HP:0410280	Pediatric onset	10056	FARSB	OMIM:613658
HP:0410280	Pediatric onset	3675	ITGA3	OMIM:614748
HP:0410280	Pediatric onset	55719	SLF2	OMIM:620184
HP:0410280	Pediatric onset	79759	ZNF668	OMIM:620194
HP:0410280	Pediatric onset	283209	PGM2L1	OMIM:620191
HP:0410280	Pediatric onset	1737	DLAT	OMIM:245348
HP:0410280	Pediatric onset	64419	MTMR14	OMIM:160150
HP:0410280	Pediatric onset	440138	ALG11	OMIM:613661
HP:0410280	Pediatric onset	23261	CAMTA1	OMIM:614756
HP:0410280	Pediatric onset	56623	INPP5E	OMIM:610156
HP:0410280	Pediatric onset	5340	PLG	OMIM:217090
HP:0410280	Pediatric onset	10472	ZBTB18	OMIM:612337
HP:0410280	Pediatric onset	9440	MED17	OMIM:613668
HP:0410280	Pediatric onset	917	CD3G	OMIM:615607
HP:0410280	Pediatric onset	1962	EHHADH	OMIM:615605
HP:0410280	Pediatric onset	286676	ILDR1	OMIM:609646
HP:0410280	Pediatric onset	8813	DPM1	OMIM:608799
HP:0410280	Pediatric onset	554	AVPR2	OMIM:300539
HP:0410280	Pediatric onset	55084	SOBP	OMIM:613671
HP:0410280	Pediatric onset	27086	FOXP1	OMIM:613670
HP:0410280	Pediatric onset	919	CD247	OMIM:610163
HP:0410280	Pediatric onset	55149	MTPAP	OMIM:613672
HP:0410280	Pediatric onset	55275	VPS53	OMIM:615851
HP:0410280	Pediatric onset	916	CD3E	OMIM:615615
HP:0410280	Pediatric onset	79718	TBL1XR1	OMIM:616944
HP:0410280	Pediatric onset	51322	WAC	OMIM:616708
HP:0410280	Pediatric onset	915	CD3D	OMIM:615617
HP:0410280	Pediatric onset	85440	DOCK7	OMIM:615859
HP:0410280	Pediatric onset	28962	OSTM1	OMIM:259720
HP:0410280	Pediatric onset	65125	WNK1	OMIM:201300
HP:0410280	Pediatric onset	79228	THOC6	OMIM:613680
HP:0410280	Pediatric onset	2033	EP300	OMIM:613684
HP:0410280	Pediatric onset	2033	EP300	OMIM:180849
HP:0410280	Pediatric onset	5962	RDX	OMIM:611022
HP:0410280	Pediatric onset	4208	MEF2C	OMIM:613443
HP:0410280	Pediatric onset	22907	DHX30	OMIM:617804
HP:0410280	Pediatric onset	3679	ITGA7	OMIM:613204
HP:0410280	Pediatric onset	7407	VARS1	OMIM:617802
HP:0410280	Pediatric onset	9894	TELO2	OMIM:616954
HP:0410280	Pediatric onset	196528	ARID2	OMIM:617808
HP:0410280	Pediatric onset	9230	RAB11B	OMIM:617807
HP:0410280	Pediatric onset	3798	KIF5A	OMIM:604187
HP:0410280	Pediatric onset	8600	TNFSF11	OMIM:259710
HP:0410280	Pediatric onset	10075	HUWE1	OMIM:309590
HP:0410280	Pediatric onset	124997	WDR81	OMIM:610185
HP:0410280	Pediatric onset	8733	GPAA1	OMIM:617810
HP:0410280	Pediatric onset	79092	CARD14	OMIM:173200
HP:0410280	Pediatric onset	132	ADK	OMIM:614300
HP:0410280	Pediatric onset	9414	TJP2	OMIM:615878
HP:0410280	Pediatric onset	4072	EPCAM	OMIM:613217
HP:0410280	Pediatric onset	6948	TCN2	OMIM:275350
HP:0410280	Pediatric onset	89970	RSPRY1	OMIM:616723
HP:0410280	Pediatric onset	50943	FOXP3	OMIM:304790
HP:0410280	Pediatric onset	8763	CD164	OMIM:616969
HP:0410280	Pediatric onset	79650	USB1	OMIM:604173
HP:0410280	Pediatric onset	91147	TMEM67	OMIM:216360
HP:0410280	Pediatric onset	9150	CTDP1	OMIM:604168
HP:0410280	Pediatric onset	3718	JAK3	OMIM:600802
HP:0410280	Pediatric onset	3074	HEXB	OMIM:268800
HP:0410280	Pediatric onset	5160	PDHA1	OMIM:312170
HP:0410280	Pediatric onset	473	RERE	OMIM:616975
HP:0410280	Pediatric onset	11151	CORO1A	OMIM:615401
HP:0410280	Pediatric onset	6144	RPL21	OMIM:615885
HP:0410280	Pediatric onset	4792	NFKBIA	OMIM:612132
HP:0410280	Pediatric onset	2902	GRIN1	OMIM:617820
HP:0410280	Pediatric onset	2902	GRIN1	OMIM:614254
HP:0410280	Pediatric onset	2782	GNB1	OMIM:616973
HP:0410280	Pediatric onset	1545	CYP1B1	OMIM:231300
HP:0410280	Pediatric onset	79644	SRD5A3	OMIM:612379
HP:0410280	Pediatric onset	79644	SRD5A3	OMIM:612713
HP:0410280	Pediatric onset	3097	HIVEP2	OMIM:616977
HP:0410280	Pediatric onset	3176	HNMT	OMIM:616739
HP:0410280	Pediatric onset	84679	SLC9A7	OMIM:301024
HP:0410280	Pediatric onset	5251	PHEX	OMIM:307800
HP:0410280	Pediatric onset	27235	COQ2	OMIM:607426
HP:0410280	Pediatric onset	63035	BCORL1	OMIM:301029
HP:0410280	Pediatric onset	6709	SPTAN1	OMIM:613477
HP:0410280	Pediatric onset	51741	WWOX	OMIM:614322
HP:0410280	Pediatric onset	51741	WWOX	OMIM:616211
HP:0410280	Pediatric onset	10616	RBCK1	OMIM:615895
HP:0410280	Pediatric onset	84693	MCEE	OMIM:251120
HP:0410280	Pediatric onset	51185	CRBN	OMIM:607417
HP:0410280	Pediatric onset	4982	TNFRSF11B	OMIM:239000
HP:0410280	Pediatric onset	6907	TBL1X	OMIM:301033
HP:0410280	Pediatric onset	617	BCS1L	OMIM:262000
HP:0410280	Pediatric onset	4891	SLC11A2	OMIM:206100
HP:0410280	Pediatric onset	4914	NTRK1	OMIM:256800
HP:0410280	Pediatric onset	25839	COG4	OMIM:613489
HP:0410280	Pediatric onset	667	DST	OMIM:615425
HP:0410280	Pediatric onset	9863	MAGI2	OMIM:617609
HP:0410280	Pediatric onset	401138	AMTN	OMIM:617607
HP:0410280	Pediatric onset	9997	SCO2	OMIM:604377
HP:0410280	Pediatric onset	3887	KRT81	OMIM:158000
HP:0410280	Pediatric onset	3892	KRT86	OMIM:158000
HP:0410280	Pediatric onset	7454	WAS	OMIM:301000
HP:0410280	Pediatric onset	11078	TRIOBP	OMIM:609823
HP:0410280	Pediatric onset	6812	STXBP1	OMIM:612164
HP:0410280	Pediatric onset	55180	LINS1	OMIM:614340
HP:0410280	Pediatric onset	11222	MRPL3	OMIM:614582
HP:0410280	Pediatric onset	8929	PHOX2B	OMIM:209880
HP:0410280	Pediatric onset	81689	ISCA1	OMIM:617613
HP:0410280	Pediatric onset	1213	CLTC	OMIM:617854
HP:0410280	Pediatric onset	2517	FUCA1	OMIM:230000
HP:0410280	Pediatric onset	1859	DYRK1A	OMIM:614104
HP:0410280	Pediatric onset	7249	TSC2	OMIM:613254
HP:0410280	Pediatric onset	7249	TSC2	OMIM:607341
HP:0410280	Pediatric onset	3458	IFNG	OMIM:613254
HP:0410280	Pediatric onset	23040	MYT1L	OMIM:616521
HP:0410280	Pediatric onset	64857	PLEKHG2	OMIM:616763
HP:0410280	Pediatric onset	189	AGXT	OMIM:259900
HP:0410280	Pediatric onset	80232	WDR26	OMIM:617616
HP:0410280	Pediatric onset	4329	ALDH6A1	OMIM:614105
HP:0410280	Pediatric onset	3570	IL6R	OMIM:618944
HP:0410280	Pediatric onset	3575	IL7R	OMIM:608971
HP:0410280	Pediatric onset	4148	MATN3	OMIM:608728
HP:0410280	Pediatric onset	3060	HCRT	OMIM:161400
HP:0410280	Pediatric onset	162514	TRPV3	OMIM:614594
HP:0410280	Pediatric onset	27031	NPHP3	OMIM:208540
HP:0410280	Pediatric onset	60528	ELAC2	OMIM:615440
HP:0410280	Pediatric onset	57688	ZSWIM6	OMIM:617865
HP:0410280	Pediatric onset	207	AKT1	OMIM:176920
HP:0410280	Pediatric onset	2893	GRIA4	OMIM:617864
HP:0410280	Pediatric onset	81562	LMAN2L	OMIM:617863
HP:0410280	Pediatric onset	81562	LMAN2L	OMIM:616887
HP:0410280	Pediatric onset	84433	CARD11	OMIM:615206
HP:0410280	Pediatric onset	113246	C12orf57	OMIM:218340
HP:0410280	Pediatric onset	51	ACOX1	OMIM:264470
HP:0410280	Pediatric onset	5873	RAB27A	OMIM:607624
HP:0410280	Pediatric onset	54888	NSUN2	OMIM:611091
HP:0410280	Pediatric onset	2898	GRIK2	OMIM:611092
HP:0410280	Pediatric onset	54802	TRIT1	OMIM:617873
HP:0410280	Pediatric onset	10020	GNE	OMIM:269921
HP:0410280	Pediatric onset	1537	CYC1	OMIM:615453
HP:0410280	Pediatric onset	9731	CEP104	OMIM:616781
HP:0410280	Pediatric onset	9731	CEP104	OMIM:619988
HP:0410280	Pediatric onset	10274	STAG1	OMIM:617635
HP:0410280	Pediatric onset	4724	NDUFS4	OMIM:252010
HP:0410280	Pediatric onset	5449	POU1F1	OMIM:613038
HP:0410280	Pediatric onset	23389	MED13L	OMIM:616789
HP:0410280	Pediatric onset	55553	SOX6	OMIM:618971
HP:0410280	Pediatric onset	51075	TMX2	OMIM:618730
HP:0410280	Pediatric onset	115286	SLC25A26	OMIM:616794
HP:0410280	Pediatric onset	80169	CTC1	OMIM:612199
HP:0410280	Pediatric onset	721	C4B	OMIM:614379
HP:0410280	Pediatric onset	10892	MALT1	OMIM:615468
HP:0410280	Pediatric onset	10844	TUBGCP2	OMIM:618737
HP:0410280	Pediatric onset	7252	TSHB	OMIM:275100
HP:0410280	Pediatric onset	2746	GLUD1	OMIM:606762
HP:0410280	Pediatric onset	8367	H4C5	OMIM:619950
HP:0410280	Pediatric onset	8294	H4C9	OMIM:619951
HP:0410280	Pediatric onset	5728	PTEN	OMIM:605309
HP:0410280	Pediatric onset	9853	RUSC2	OMIM:617773
HP:0410280	Pediatric onset	5723	PSPH	OMIM:614023
HP:0410280	Pediatric onset	9524	TECR	OMIM:614020
HP:0410280	Pediatric onset	343450	KCNT2	OMIM:617771
HP:0410280	Pediatric onset	6873	TAF2	OMIM:615599
HP:0410280	Pediatric onset	2895	GRID2	OMIM:616204
HP:0410280	Pediatric onset	51126	NAA20	OMIM:619717
HP:0410280	Pediatric onset	2972	BRF1	OMIM:616202
HP:0410280	Pediatric onset	4860	PNP	OMIM:613179
HP:0410280	Pediatric onset	1355	COX15	OMIM:615119
HP:0410280	Pediatric onset	81857	MED25	OMIM:616449
HP:0410280	Pediatric onset	4254	KITLG	OMIM:145250
HP:0410280	Pediatric onset	84942	WDR73	OMIM:251300
HP:0410280	Pediatric onset	10060	ABCC9	OMIM:619719
HP:0410280	Pediatric onset	7259	TSPYL1	OMIM:608800
HP:0410280	Pediatric onset	4522	MTHFD1	OMIM:617780
HP:0410280	Pediatric onset	3021	H3-3B	OMIM:619721
HP:0410280	Pediatric onset	1630	DCC	OMIM:617542
HP:0410280	Pediatric onset	1630	DCC	OMIM:157600
HP:0410280	Pediatric onset	10026	PIGK	OMIM:618879
HP:0410280	Pediatric onset	51111	KMT5B	OMIM:617788
HP:0410280	Pediatric onset	65082	VPS33A	OMIM:617303
HP:0410280	Pediatric onset	526	ATP6V1B2	OMIM:616455
HP:0410280	Pediatric onset	10730	YME1L1	OMIM:617302
HP:0410280	Pediatric onset	10565	ARFGEF1	OMIM:619964
HP:0410280	Pediatric onset	8309	ACOX2	OMIM:617308
HP:0410280	Pediatric onset	51473	DCDC2	OMIM:616217
HP:0410280	Pediatric onset	51473	DCDC2	OMIM:617394
HP:0410280	Pediatric onset	27102	EIF2AK1	OMIM:618878
HP:0410280	Pediatric onset	5189	PEX1	OMIM:214100
HP:0410280	Pediatric onset	5189	PEX1	OMIM:234580
HP:0410280	Pediatric onset	140803	TRPM6	OMIM:602014
HP:0410280	Pediatric onset	10559	SLC35A1	OMIM:603585
HP:0410280	Pediatric onset	83696	TRAPPC9	OMIM:613192
HP:0410280	Pediatric onset	60561	RINT1	OMIM:618641
HP:0410280	Pediatric onset	129685	TAF8	OMIM:619972
HP:0410280	Pediatric onset	55870	ASH1L	OMIM:617796
HP:0410280	Pediatric onset	816	CAMK2B	OMIM:617799
HP:0410280	Pediatric onset	51319	RSRC1	OMIM:618402
HP:0410280	Pediatric onset	7920	ABHD16A	OMIM:619735
HP:0410280	Pediatric onset	1834	DSPP	OMIM:125420
HP:0410280	Pediatric onset	10715	CERS1	OMIM:616230
HP:0410280	Pediatric onset	283987	HID1	OMIM:619983
HP:0410280	Pediatric onset	1303	COL12A1	OMIM:616470
HP:0410280	Pediatric onset	6712	SPTBN2	OMIM:615386
HP:0410280	Pediatric onset	6712	SPTBN2	OMIM:600224
HP:0410280	Pediatric onset	4174	MCM5	OMIM:617564
HP:0410280	Pediatric onset	57178	ZMIZ1	OMIM:618659
HP:0410280	Pediatric onset	388962	BOLA3	OMIM:614299
HP:0410280	Pediatric onset	200734	SPRED2	OMIM:619745
HP:0410280	Pediatric onset	79731	NARS2	OMIM:616239
HP:0410280	Pediatric onset	55623	THUMPD1	OMIM:619989
HP:0410280	Pediatric onset	284439	SLC25A42	OMIM:618416
HP:0410280	Pediatric onset	610	HCN2	OMIM:602477
HP:0410280	Pediatric onset	51594	NBAS	OMIM:616483
HP:0410280	Pediatric onset	253738	EBF3	OMIM:617330
HP:0410280	Pediatric onset	56006	SMG9	OMIM:619995
HP:0410280	Pediatric onset	51604	PIGT	OMIM:615398
HP:0410280	Pediatric onset	142680	SLC34A3	OMIM:241530
HP:0410280	Pediatric onset	65080	MRPL44	OMIM:615395
HP:0410280	Pediatric onset	27089	UQCRQ	OMIM:615159
HP:0410280	Pediatric onset	1182	CLCN3	OMIM:619517
HP:0410280	Pediatric onset	55699	IARS2	OMIM:616007
HP:0410280	Pediatric onset	7381	UQCRB	OMIM:615158
HP:0410280	Pediatric onset	7701	ZNF142	OMIM:618425
HP:0410280	Pediatric onset	4191	MDH2	OMIM:617339
HP:0410280	Pediatric onset	8517	IKBKG	OMIM:301081
HP:0410280	Pediatric onset	8517	IKBKG	OMIM:300636
HP:0410280	Pediatric onset	23474	ETHE1	OMIM:602473
HP:0410280	Pediatric onset	166785	MMAA	OMIM:251100
HP:0410280	Pediatric onset	5551	PRF1	OMIM:603553
HP:0410280	Pediatric onset	7750	ZMYM2	OMIM:619522
HP:0410280	Pediatric onset	5971	RELB	OMIM:617585
HP:0410280	Pediatric onset	9474	ATG5	OMIM:617584
HP:0410280	Pediatric onset	4849	CNOT3	OMIM:618672
HP:0410280	Pediatric onset	59336	PRDM13	OMIM:619761
HP:0410280	Pediatric onset	6942	TCF20	OMIM:618430
HP:0410280	Pediatric onset	6506	SLC1A2	OMIM:617105
HP:0410280	Pediatric onset	9338	TCEAL1	OMIM:301094
HP:0410280	Pediatric onset	57724	EPG5	OMIM:242840
HP:0410280	Pediatric onset	51651	PTRH2	OMIM:616263
HP:0410280	Pediatric onset	6324	SCN1B	OMIM:617350
HP:0410280	Pediatric onset	55120	FANCL	OMIM:614083
HP:0410280	Pediatric onset	79989	IFT56	OMIM:619534
HP:0410280	Pediatric onset	284098	PIGW	OMIM:616025
HP:0410280	Pediatric onset	2562	GABRB3	OMIM:617113
HP:0410280	Pediatric onset	84522	JAGN1	OMIM:616022
HP:0410280	Pediatric onset	79977	GRHL2	OMIM:616029
HP:0410280	Pediatric onset	388662	SLC6A17	OMIM:616269
HP:0410280	Pediatric onset	2678	GGT1	OMIM:231950
HP:0410280	Pediatric onset	51227	PIGP	OMIM:617599
HP:0410280	Pediatric onset	5271	SERPINB8	OMIM:617115
HP:0410280	Pediatric onset	1107	CHD3	OMIM:618205
HP:0410280	Pediatric onset	387733	IFITM5	OMIM:610967
HP:0410280	Pediatric onset	64421	DCLRE1C	OMIM:602450
HP:0410280	Pediatric onset	60681	FKBP10	OMIM:610968
HP:0410280	Pediatric onset	57192	MCOLN1	OMIM:252650
HP:0410280	Pediatric onset	3756	KCNH1	OMIM:611816
HP:0410280	Pediatric onset	258	AMBN	OMIM:616270
HP:0410280	Pediatric onset	3730	ANOS1	OMIM:308700
HP:0410280	Pediatric onset	81704	DOCK8	OMIM:243700
HP:0410280	Pediatric onset	27077	B9D1	OMIM:617120
HP:0410280	Pediatric onset	5825	ABCD3	OMIM:616278
HP:0410280	Pediatric onset	133686	NADK2	OMIM:616034
HP:0410280	Pediatric onset	3658	IREB2	OMIM:618451
HP:0410280	Pediatric onset	55770	EXOC2	OMIM:619306
HP:0410280	Pediatric onset	6857	SYT1	OMIM:618218
HP:0410280	Pediatric onset	5277	PIGA	OMIM:301072
HP:0410280	Pediatric onset	6927	HNF1A	OMIM:600496
HP:0410280	Pediatric onset	84706	GPT2	OMIM:616281
HP:0410280	Pediatric onset	4723	NDUFV1	OMIM:618225
HP:0410280	Pediatric onset	30000	TNPO2	OMIM:619556
HP:0410280	Pediatric onset	79705	LRRK1	OMIM:615198
HP:0410280	Pediatric onset	51728	POLR3K	OMIM:619310
HP:0410280	Pediatric onset	4719	NDUFS1	OMIM:618226
HP:0410280	Pediatric onset	55628	ZNF407	OMIM:619557
HP:0410280	Pediatric onset	4720	NDUFS2	OMIM:618228
HP:0410280	Pediatric onset	4729	NDUFV2	OMIM:618229
HP:0410280	Pediatric onset	51412	ACTL6B	OMIM:618470
HP:0410280	Pediatric onset	831	CAST	OMIM:616295
HP:0410280	Pediatric onset	6514	SLC2A2	OMIM:227810
HP:0410280	Pediatric onset	51103	NDUFAF1	OMIM:618234
HP:0410280	Pediatric onset	4695	NDUFA2	OMIM:618235
HP:0410280	Pediatric onset	3561	IL2RG	OMIM:300400
HP:0410280	Pediatric onset	79868	ALG13	OMIM:300884
HP:0410280	Pediatric onset	6651	SON	OMIM:617140
HP:0410280	Pediatric onset	8867	SYNJ1	OMIM:617389
HP:0410280	Pediatric onset	51601	LIPT1	OMIM:616299
HP:0410280	Pediatric onset	10659	CELF2	OMIM:619561
HP:0410280	Pediatric onset	23030	KDM4B	OMIM:619320
HP:0410280	Pediatric onset	5010	CLDN11	OMIM:619328
HP:0410280	Pediatric onset	9622	KLK4	OMIM:204700
HP:0410280	Pediatric onset	1130	LYST	OMIM:214500
HP:0410280	Pediatric onset	2067	ERCC1	OMIM:610758
HP:0410280	Pediatric onset	79944	L2HGDH	OMIM:236792
HP:0410280	Pediatric onset	8869	ST3GAL5	OMIM:609056
HP:0410280	Pediatric onset	1725	DHPS	OMIM:618480
HP:0410280	Pediatric onset	3192	HNRNPU	OMIM:617391
HP:0410280	Pediatric onset	55967	NDUFA12	OMIM:618244
HP:0410280	Pediatric onset	4715	NDUFB9	OMIM:618245
HP:0410280	Pediatric onset	56915	EXOSC5	OMIM:619576
HP:0410280	Pediatric onset	22796	COG2	OMIM:617395
HP:0410280	Pediatric onset	2560	GABRB1	OMIM:617153
HP:0410280	Pediatric onset	112939	NACC1	OMIM:617393
HP:0410280	Pediatric onset	25915	NDUFAF3	OMIM:618240
HP:0410280	Pediatric onset	2707	GJB3	OMIM:133200
HP:0410280	Pediatric onset	4705	NDUFA10	OMIM:618243
HP:0410280	Pediatric onset	123263	MTFMT	OMIM:618248
HP:0410280	Pediatric onset	7965	AIMP2	OMIM:618006
HP:0410280	Pediatric onset	51079	NDUFA13	OMIM:618249
HP:0410280	Pediatric onset	84188	FAR1	OMIM:619338
HP:0410280	Pediatric onset	10157	AASS	OMIM:238700
HP:0410280	Pediatric onset	23203	PMPCA	OMIM:213200
HP:0410280	Pediatric onset	22845	DOLK	OMIM:610768
HP:0410280	Pediatric onset	55750	AGK	OMIM:212350
HP:0410280	Pediatric onset	8604	SLC25A12	OMIM:612949
HP:0410280	Pediatric onset	3158	HMGCS2	OMIM:605911
HP:0410280	Pediatric onset	1781	DYNC1I2	OMIM:618492
HP:0410280	Pediatric onset	7319	UBE2A	OMIM:300860
HP:0410280	Pediatric onset	9509	ADAMTS2	OMIM:225410
HP:0410280	Pediatric onset	26175	LYSET	OMIM:619345
HP:0410280	Pediatric onset	10845	CLPX	OMIM:618015
HP:0410280	Pediatric onset	23522	KAT6B	OMIM:603736
HP:0410280	Pediatric onset	2906	GRIN2D	OMIM:617162
HP:0410280	Pediatric onset	9451	EIF2AK3	OMIM:226980
HP:0410280	Pediatric onset	51300	TIMMDC1	OMIM:618251
HP:0410280	Pediatric onset	54681	P4HTM	OMIM:618493
HP:0410280	Pediatric onset	4714	NDUFB8	OMIM:618252
HP:0410280	Pediatric onset	4126	MANBA	OMIM:248510
HP:0410280	Pediatric onset	26040	SETBP1	OMIM:616078
HP:0410280	Pediatric onset	3560	IL2RB	OMIM:618495
HP:0410280	Pediatric onset	2257	FGF12	OMIM:617166
HP:0410280	Pediatric onset	8635	RNASET2	OMIM:612951
HP:0410280	Pediatric onset	84701	COX4I2	OMIM:612714
HP:0410280	Pediatric onset	6697	SPR	OMIM:612716
HP:0410280	Pediatric onset	10771	ZMYND11	OMIM:616083
HP:0410280	Pediatric onset	11340	EXOSC8	OMIM:616081
HP:0410280	Pediatric onset	23322	RPGRIP1L	OMIM:619113
HP:0410280	Pediatric onset	37	ACADVL	OMIM:201475
HP:0410280	Pediatric onset	65018	PINK1	OMIM:605909
HP:0410280	Pediatric onset	139411	PTCHD1	OMIM:300830
HP:0410280	Pediatric onset	5977	DPF2	OMIM:618027
HP:0410280	Pediatric onset	10681	GNB5	OMIM:617173
HP:0410280	Pediatric onset	10681	GNB5	OMIM:617182
HP:0410280	Pediatric onset	10847	SRCAP	OMIM:619595
HP:0410280	Pediatric onset	10847	SRCAP	OMIM:136140
HP:0410280	Pediatric onset	1387	CREBBP	OMIM:180849
HP:0410280	Pediatric onset	3839	KPNA3	OMIM:620106
HP:0410280	Pediatric onset	51091	SEPSECS	OMIM:613811
HP:0410280	Pediatric onset	84197	POMK	OMIM:616094
HP:0410280	Pediatric onset	55210	ATAD3A	OMIM:617183
HP:0410280	Pediatric onset	2571	GAD1	OMIM:619124
HP:0410280	Pediatric onset	8915	BCL10	OMIM:616098
HP:0410280	Pediatric onset	90522	YIF1B	OMIM:619125
HP:0410280	Pediatric onset	54790	TET2	OMIM:619126
HP:0410280	Pediatric onset	285	ANGPT2	OMIM:619369
HP:0410280	Pediatric onset	22983	MAST1	OMIM:618273
HP:0410280	Pediatric onset	79143	MBOAT7	OMIM:617188
HP:0410280	Pediatric onset	226	ALDOA	OMIM:611881
HP:0410280	Pediatric onset	498	ATP5F1A	OMIM:620358
HP:0410280	Pediatric onset	3030	HADHA	OMIM:609015
HP:0410280	Pediatric onset	2593	GAMT	OMIM:612736
HP:0410280	Pediatric onset	1406	CRX	OMIM:613829
HP:0410280	Pediatric onset	6123	RPL3L	OMIM:619371
HP:0410280	Pediatric onset	6904	TBCD	OMIM:617193
HP:0410280	Pediatric onset	6571	SLC18A2	OMIM:618049
HP:0410280	Pediatric onset	23154	NCDN	OMIM:619373
HP:0410280	Pediatric onset	4938	OAS1	OMIM:618042
HP:0410280	Pediatric onset	57152	SLURP1	OMIM:248300
HP:0410280	Pediatric onset	100	ADA	OMIM:102700
HP:0410280	Pediatric onset	4668	NAGA	OMIM:609241
HP:0410280	Pediatric onset	9487	PIGL	OMIM:280000
HP:0410280	Pediatric onset	124454	EARS2	OMIM:614924
HP:0410280	Pediatric onset	1795	DOCK3	OMIM:618292
HP:0410280	Pediatric onset	11011	TLK2	OMIM:618050
HP:0410280	Pediatric onset	6850	SYK	OMIM:619381
HP:0410280	Pediatric onset	27161	AGO2	OMIM:619149
HP:0410280	Pediatric onset	8665	EIF3F	OMIM:618295
HP:0410280	Pediatric onset	221927	BRAT1	OMIM:618056
HP:0410280	Pediatric onset	221927	BRAT1	OMIM:614498
HP:0410280	Pediatric onset	10535	RNASEH2A	OMIM:610333
HP:0410280	Pediatric onset	7287	TULP1	OMIM:613843
HP:0410280	Pediatric onset	54938	SARS2	OMIM:613845
HP:0410280	Pediatric onset	26275	HIBCH	OMIM:250620
HP:0410280	Pediatric onset	121340	SP7	OMIM:613849
HP:0410280	Pediatric onset	4702	NDUFA8	OMIM:619272
HP:0410280	Pediatric onset	199857	ALG14	OMIM:619031
HP:0410280	Pediatric onset	84189	SLITRK6	OMIM:221200
HP:0410280	Pediatric onset	10128	LRPPRC	OMIM:220111
HP:0410280	Pediatric onset	10134	BCAP31	OMIM:300475
HP:0410280	Pediatric onset	158	ADSL	OMIM:103050
HP:0410280	Pediatric onset	81555	YIPF5	OMIM:619278
HP:0410280	Pediatric onset	4574	MT-TS1	OMIM:220110
HP:0410280	Pediatric onset	4570	MT-TN	OMIM:220110
HP:0410280	Pediatric onset	6834	SURF1	OMIM:220110
HP:0410280	Pediatric onset	347734	SLC35B2	OMIM:620269
HP:0410280	Pediatric onset	4774	NFIA	OMIM:613735
HP:0410280	Pediatric onset	5111	PCNA	OMIM:615919
HP:0410280	Pediatric onset	118987	PDZD8	OMIM:620021
HP:0410280	Pediatric onset	57176	VARS2	OMIM:615917
HP:0410280	Pediatric onset	80222	TARS2	OMIM:615918
HP:0410280	Pediatric onset	3073	HEXA	OMIM:272800
HP:0410280	Pediatric onset	2617	GARS1	OMIM:619042
HP:0410280	Pediatric onset	4983	OPHN1	OMIM:300486
HP:0410280	Pediatric onset	2050	EPHB4	OMIM:618196
HP:0410280	Pediatric onset	6576	SLC25A1	OMIM:618197
HP:0410280	Pediatric onset	1352	COX10	OMIM:619046
HP:0410280	Pediatric onset	973	CD79A	OMIM:613501
HP:0410280	Pediatric onset	3543	IGLL1	OMIM:613500
HP:0410280	Pediatric onset	2911	GRM1	OMIM:614831
HP:0410280	Pediatric onset	6507	SLC1A3	OMIM:612656
HP:0410280	Pediatric onset	29760	BLNK	OMIM:613502
HP:0410280	Pediatric onset	63908	NAPB	OMIM:620033
HP:0410280	Pediatric onset	8647	ABCB11	OMIM:601847
HP:0410280	Pediatric onset	2892	GRIA3	OMIM:300699
HP:0410280	Pediatric onset	100131801	PET100	OMIM:619055
HP:0410280	Pediatric onset	191	AHCY	OMIM:613752
HP:0410280	Pediatric onset	6499	SKIC2	OMIM:614602
HP:0410280	Pediatric onset	340061	STING1	OMIM:615934
HP:0410280	Pediatric onset	5896	RAG1	OMIM:233650
HP:0410280	Pediatric onset	5897	RAG2	OMIM:233650
HP:0410280	Pediatric onset	10716	TBR1	OMIM:606053
HP:0410280	Pediatric onset	79087	ALG12	OMIM:607143
HP:0410280	Pediatric onset	1339	COX6A2	OMIM:619062
HP:0410280	Pediatric onset	8802	SUCLG1	OMIM:245400
HP:0410280	Pediatric onset	9377	COX5A	OMIM:619064
HP:0410280	Pediatric onset	4591	TRIM37	OMIM:253250
HP:0410280	Pediatric onset	124512	METTL23	OMIM:615942
HP:0410280	Pediatric onset	2214	FCGR3A	OMIM:615707
HP:0410280	Pediatric onset	65250	CPLANE1	OMIM:614615
HP:0410280	Pediatric onset	79443	FYCO1	OMIM:610019
HP:0410280	Pediatric onset	1991	ELANE	OMIM:202700
HP:0410280	Pediatric onset	2984	GUCY2C	OMIM:614616
HP:0410280	Pediatric onset	9711	RUBCN	OMIM:615705
HP:0410280	Pediatric onset	1802	DPH2	OMIM:620062
HP:0410280	Pediatric onset	443	ASPA	OMIM:271900
HP:0410280	Pediatric onset	6792	CDKL5	OMIM:300672
HP:0410280	Pediatric onset	5091	PC	OMIM:266150
HP:0410280	Pediatric onset	3028	HSD17B10	OMIM:300438
HP:0410280	Pediatric onset	2677	GGCX	OMIM:277450
HP:0410280	Pediatric onset	9255	AIMP1	OMIM:260600
HP:0410280	Pediatric onset	2073	ERCC5	OMIM:278780
HP:0410280	Pediatric onset	10290	SPEG	OMIM:615959
HP:0410280	Pediatric onset	93210	PGAP3	OMIM:615716
HP:0410280	Pediatric onset	5700	PSMC1	OMIM:620071
HP:0410280	Pediatric onset	728294	D2HGDH	OMIM:600721
HP:0410280	Pediatric onset	9095	TBX19	OMIM:201400
HP:0410280	Pediatric onset	974	CD79B	OMIM:612692
HP:0410280	Pediatric onset	54919	DNAAF5	OMIM:614874
HP:0410280	Pediatric onset	9568	GABBR2	OMIM:617903
HP:0410280	Pediatric onset	9568	GABBR2	OMIM:617904
HP:0410280	Pediatric onset	5591	PRKDC	OMIM:615966
HP:0410280	Pediatric onset	25828	TXN2	OMIM:616811
HP:0410280	Pediatric onset	65217	PCDH15	OMIM:609533
HP:0410280	Pediatric onset	4677	NARS1	OMIM:619091
HP:0410280	Pediatric onset	9342	SNAP29	OMIM:609528
HP:0410280	Pediatric onset	254065	BRWD3	OMIM:300659
HP:0410280	Pediatric onset	26047	CNTNAP2	OMIM:610042
HP:0410280	Pediatric onset	57654	UVSSA	OMIM:614640
HP:0410280	Pediatric onset	50628	GEMIN4	OMIM:617913
HP:0410280	Pediatric onset	2056	EPO	OMIM:617911
HP:0410280	Pediatric onset	5195	PEX14	OMIM:614887
HP:0410280	Pediatric onset	84317	CCDC115	OMIM:616828
HP:0410280	Pediatric onset	85021	REPS1	OMIM:617916
HP:0410280	Pediatric onset	1487	CTBP1	OMIM:617915
HP:0410280	Pediatric onset	506	ATP5F1B	OMIM:620085
HP:0410280	Pediatric onset	92154	MTSS2	OMIM:620086
HP:0410280	Pediatric onset	7248	TSC1	OMIM:607341
HP:0410280	Pediatric onset	2475	MTOR	OMIM:607341
HP:0410280	Pediatric onset	2475	MTOR	OMIM:616638
HP:0410280	Pediatric onset	84978	FRMD5	OMIM:620094
HP:0410280	Pediatric onset	51067	YARS2	OMIM:613561
HP:0410280	Pediatric onset	3593	IL12B	OMIM:614890
HP:0410280	Pediatric onset	867	CBL	OMIM:613563
HP:0410280	Pediatric onset	85478	CCDC65	OMIM:615504
HP:0410280	Pediatric onset	6597	SMARCA4	OMIM:613325
HP:0410280	Pediatric onset	284119	CAVIN1	OMIM:613327
HP:0410280	Pediatric onset	2554	GABRA1	OMIM:615744
HP:0410280	Pediatric onset	10695	CNPY3	OMIM:617929
HP:0410280	Pediatric onset	1738	DLD	OMIM:246900
HP:0410280	Pediatric onset	5193	PEX12	OMIM:266510
HP:0410280	Pediatric onset	100151683	RNU4ATAC	OMIM:210710
HP:0410280	Pediatric onset	29926	GMPPA	OMIM:615510
HP:0410280	Pediatric onset	9289	ADGRG1	OMIM:615752
HP:0410280	Pediatric onset	8924	HERC2	OMIM:615516
HP:0410280	Pediatric onset	53616	ADAM22	OMIM:617933
HP:0410280	Pediatric onset	7545	ZIC1	OMIM:616602
HP:0410280	Pediatric onset	27249	MMADHC	OMIM:277410
HP:0410280	Pediatric onset	5443	POMC	OMIM:609734
HP:0410280	Pediatric onset	5859	QARS1	OMIM:615760
HP:0410280	Pediatric onset	55209	SETD5	OMIM:615761
HP:0410280	Pediatric onset	58	ACTA1	OMIM:616852
HP:0410280	Pediatric onset	7280	TUBB2A	OMIM:615763
HP:0410280	Pediatric onset	5429	POLH	OMIM:278750
HP:0410280	Pediatric onset	1825	DSC3	OMIM:613102
HP:0410280	Pediatric onset	91869	RFT1	OMIM:612015
HP:0410280	Pediatric onset	59067	IL21	OMIM:615767
HP:0410280	Pediatric onset	6301	SARS1	OMIM:617709
HP:0410280	Pediatric onset	1644	DDC	OMIM:608643
HP:0410280	Pediatric onset	1767	DNAH5	OMIM:608644
HP:0410280	Pediatric onset	64221	ROBO3	OMIM:607313
HP:0410280	Pediatric onset	26224	FBXL3	OMIM:606220
HP:0410280	Pediatric onset	51116	MRPS2	OMIM:617950
HP:0410280	Pediatric onset	51206	GP6	OMIM:614201
HP:0410280	Pediatric onset	27315	PGAP2	OMIM:614207
HP:0410280	Pediatric onset	10095	ARPC1B	OMIM:617718
HP:0410280	Pediatric onset	9056	SLC7A7	OMIM:222700
HP:0410280	Pediatric onset	2324	FLT4	OMIM:602089
HP:0410280	Pediatric onset	84168	ANTXR1	OMIM:602089
HP:0410280	Pediatric onset	3791	KDR	OMIM:602089
HP:0410280	Pediatric onset	1641	DCX	OMIM:300067
HP:0410280	Pediatric onset	80185	TTI2	OMIM:615541
HP:0410280	Pediatric onset	55780	ERMARD	OMIM:615544
HP:0410280	Pediatric onset	54664	TMEM106B	OMIM:617964
HP:0410280	Pediatric onset	7421	VDR	OMIM:277440
HP:0410280	Pediatric onset	54551	MAGEL2	OMIM:615547
HP:0410280	Pediatric onset	51128	SAR1B	OMIM:246700
HP:0410280	Pediatric onset	10269	ZMPSTE24	OMIM:608612
HP:0410280	Pediatric onset	112858	TP53RK	OMIM:617730
HP:0410280	Pediatric onset	11280	SCN11A	OMIM:615552
HP:0410280	Pediatric onset	51501	HIKESHI	OMIM:616881
HP:0410280	Pediatric onset	10815	CPLX1	OMIM:617976
HP:0410280	Pediatric onset	3747	KCNC2	OMIM:619913
HP:0410280	Pediatric onset	84617	TUBB6	OMIM:617732
HP:0410280	Pediatric onset	6531	SLC6A3	OMIM:613135
HP:0410280	Pediatric onset	3704	ITPA	OMIM:616647
HP:0410280	Pediatric onset	338	APOB	OMIM:615558
HP:0410280	Pediatric onset	56270	WDR45B	OMIM:617977
HP:0410280	Pediatric onset	1917	EEF1A2	OMIM:616409
HP:0410280	Pediatric onset	23209	MLC1	OMIM:604004
HP:0410280	Pediatric onset	2316	FLNA	OMIM:300048
HP:0410280	Pediatric onset	368	ABCC6	OMIM:614473
HP:0410280	Pediatric onset	5788	PTPRC	OMIM:619924
HP:0410280	Pediatric onset	4780	NFE2L2	OMIM:617744
HP:0410280	Pediatric onset	79867	TCTN2	OMIM:616654
HP:0410280	Pediatric onset	23310	NCAPD3	OMIM:617984
HP:0410280	Pediatric onset	2890	GRIA1	OMIM:619927
HP:0410280	Pediatric onset	2890	GRIA1	OMIM:619931
HP:0410280	Pediatric onset	2741	GLRA1	OMIM:149400
HP:0410280	Pediatric onset	10243	GPHN	OMIM:149400
HP:0410280	Pediatric onset	55164	SHQ1	OMIM:619921
HP:0410280	Pediatric onset	55164	SHQ1	OMIM:619922
HP:0410280	Pediatric onset	6509	SLC1A4	OMIM:616657
HP:0410280	Pediatric onset	100506658	OCLN	OMIM:251290
HP:0410280	Pediatric onset	9215	LARGE1	OMIM:608840
HP:0410280	Pediatric onset	2819	GPD1	OMIM:614480
HP:0410280	Pediatric onset	440	ASNS	OMIM:615574
HP:0410280	Pediatric onset	9197	SLC33A1	OMIM:614482
HP:0410280	Pediatric onset	55023	PHIP	OMIM:617991
HP:0410280	Pediatric onset	2990	GUSB	OMIM:253220
HP:0410280	Pediatric onset	51294	PCDH12	OMIM:251280
HP:0410280	Pediatric onset	55812	SPATA7	OMIM:604232
HP:0410280	Pediatric onset	51733	UPB1	OMIM:613161
HP:0410280	Pediatric onset	101929726	MYMX	OMIM:619941
HP:0410280	Pediatric onset	23404	EXOSC2	OMIM:617763
HP:0410280	Pediatric onset	55331	ACER3	OMIM:617762
HP:0410280	Pediatric onset	8803	SUCLA2	OMIM:612073
HP:0410280	Pediatric onset	2697	GJA1	OMIM:617525
HP:0410280	Pediatric onset	96459	FNIP1	OMIM:619705
HP:0410280	Pediatric onset	1794	DOCK2	OMIM:616433
HP:0410280	Pediatric onset	126792	B3GALT6	OMIM:615349
HP:0410280	Pediatric onset	58499	ZNF462	OMIM:618619
HP:0410280	Pediatric onset	25974	MMACHC	OMIM:277400
HP:0410280	Pediatric onset	5052	PRDX1	OMIM:277400
HP:0410280	Pediatric onset	8328	GFI1B	OMIM:187900
HP:0410280	Pediatric onset	6335	SCN9A	OMIM:133020
HP:0410280	Pediatric onset	64170	CARD9	OMIM:212050
HP:0410280	Pediatric onset	7428	VHL	OMIM:263400
HP:0410280	Pediatric onset	10159	ATP6AP2	OMIM:300911
HP:0410280	Pediatric onset	151648	SGO1	OMIM:616201
HP:0410280	Pediatric onset	57468	SLC12A5	OMIM:616685
HP:0410280	Pediatric onset	9860	LRIG2	OMIM:615112
HP:0410280	Pediatric onset	7293	TNFRSF4	OMIM:615593
HP:0410280	Pediatric onset	253017	TECRL	OMIM:614021
HP:0410280	Pediatric onset	22880	MORC2	OMIM:616688
HP:0410280	Pediatric onset	8573	CASK	OMIM:300908
HP:0410280	Pediatric onset	2539	G6PD	OMIM:300908
HP:0410280	Pediatric onset	8710	SERPINB7	OMIM:615598
HP:0410280	Pediatric onset	4897	NRCAM	OMIM:619833
HP:0410280	Pediatric onset	63924	CIDEC	OMIM:615238
HP:0410280	Pediatric onset	5165	PDK3	OMIM:300905
HP:0410280	Pediatric onset	125150	ZSWIM7	OMIM:619834
HP:0410280	Pediatric onset	3703	STT3A	OMIM:619714
HP:0410280	Pediatric onset	755	CFAP410	OMIM:602271
HP:0410280	Pediatric onset	755	CFAP410	OMIM:617547
HP:0410280	Pediatric onset	8291	DYSF	OMIM:253601
HP:0410280	Pediatric onset	8291	DYSF	OMIM:606768
HP:0410280	Pediatric onset	7068	THRB	OMIM:274300
HP:0410280	Pediatric onset	1736	DKC1	OMIM:305000
HP:0410280	Pediatric onset	825	CAPN3	OMIM:253600
HP:0410280	Pediatric onset	825	CAPN3	OMIM:618129
HP:0410280	Pediatric onset	27022	FOXD3	OMIM:607836
HP:0410280	Pediatric onset	10021	HCN4	OMIM:163800
HP:0410280	Pediatric onset	7849	PAX8	OMIM:218700
HP:0410280	Pediatric onset	9742	IFT140	OMIM:617781
HP:0410280	Pediatric onset	4867	NPHP1	OMIM:266900
HP:0410280	Pediatric onset	4210	MEFV	OMIM:249100
HP:0410280	Pediatric onset	4210	MEFV	OMIM:134610
HP:0410280	Pediatric onset	8566	PDXK	OMIM:618511
HP:0410280	Pediatric onset	374462	PTPRQ	OMIM:617663
HP:0410280	Pediatric onset	56616	DIABLO	OMIM:614152
HP:0410280	Pediatric onset	5155	PDGFB	OMIM:615483
HP:0410280	Pediatric onset	70	ACTC1	OMIM:612098
HP:0410280	Pediatric onset	70	ACTC1	OMIM:613424
HP:0410280	Pediatric onset	4598	MVK	OMIM:175900
HP:0410280	Pediatric onset	200205	IBA57	OMIM:616451
HP:0410280	Pediatric onset	2099	ESR1	OMIM:615363
HP:0410280	Pediatric onset	57582	KCNT1	OMIM:615005
HP:0410280	Pediatric onset	477	ATP1A2	OMIM:619605
HP:0410280	Pediatric onset	477	ATP1A2	OMIM:602481
HP:0410280	Pediatric onset	84665	MYPN	OMIM:615248
HP:0410280	Pediatric onset	84665	MYPN	OMIM:617336
HP:0410280	Pediatric onset	55689	YEATS2	OMIM:615127
HP:0410280	Pediatric onset	2670	GFAP	OMIM:203450
HP:0410280	Pediatric onset	92840	REEP6	OMIM:617304
HP:0410280	Pediatric onset	79639	TMEM53	OMIM:619727
HP:0410280	Pediatric onset	4790	NFKB1	OMIM:616576
HP:0410280	Pediatric onset	10686	CLDN16	OMIM:248250
HP:0410280	Pediatric onset	5159	PDGFRB	OMIM:615007
HP:0410280	Pediatric onset	5159	PDGFRB	OMIM:616592
HP:0410280	Pediatric onset	4000	LMNA	OMIM:248370
HP:0410280	Pediatric onset	4000	LMNA	OMIM:613205
HP:0410280	Pediatric onset	4000	LMNA	OMIM:151660
HP:0410280	Pediatric onset	3781	KCNN2	OMIM:619724
HP:0410280	Pediatric onset	8526	DGKE	OMIM:615008
HP:0410280	Pediatric onset	7486	WRN	OMIM:277700
HP:0410280	Pediatric onset	1476	CSTB	OMIM:254800
HP:0410280	Pediatric onset	81846	SBF2	OMIM:604563
HP:0410280	Pediatric onset	55034	MOCOS	OMIM:603592
HP:0410280	Pediatric onset	146057	TTBK2	OMIM:604432
HP:0410280	Pediatric onset	60482	SLC5A7	OMIM:158580
HP:0410280	Pediatric onset	54	ACP5	OMIM:607944
HP:0410280	Pediatric onset	51083	GAL	OMIM:616461
HP:0410280	Pediatric onset	535	ATP6V0A1	OMIM:619971
HP:0410280	Pediatric onset	6772	STAT1	OMIM:614162
HP:0410280	Pediatric onset	6772	STAT1	OMIM:614892
HP:0410280	Pediatric onset	4358	MPV17	OMIM:618400
HP:0410280	Pediatric onset	7345	UCHL1	OMIM:615491
HP:0410280	Pediatric onset	7345	UCHL1	OMIM:620221
HP:0410280	Pediatric onset	5832	ALDH18A1	OMIM:616586
HP:0410280	Pediatric onset	5832	ALDH18A1	OMIM:601162
HP:0410280	Pediatric onset	57449	PLEKHG5	OMIM:615376
HP:0410280	Pediatric onset	63976	PRDM16	OMIM:615373
HP:0410280	Pediatric onset	1280	COL2A1	OMIM:616583
HP:0410280	Pediatric onset	1280	COL2A1	OMIM:604864
HP:0410280	Pediatric onset	286204	CRB2	OMIM:616220
HP:0410280	Pediatric onset	9364	RAB28	OMIM:615374
HP:0410280	Pediatric onset	2261	FGFR3	OMIM:146000
HP:0410280	Pediatric onset	79797	ZNF408	OMIM:616468
HP:0410280	Pediatric onset	10352	WARS2	OMIM:619738
HP:0410280	Pediatric onset	8930	MBD4	OMIM:619975
HP:0410280	Pediatric onset	6445	SGCG	OMIM:253700
HP:0410280	Pediatric onset	1181	CLCN2	OMIM:605635
HP:0410280	Pediatric onset	1181	CLCN2	OMIM:615651
HP:0410280	Pediatric onset	6331	SCN5A	OMIM:601154
HP:0410280	Pediatric onset	6331	SCN5A	OMIM:603830
HP:0410280	Pediatric onset	6331	SCN5A	OMIM:608567
HP:0410280	Pediatric onset	2645	GCK	OMIM:602485
HP:0410280	Pediatric onset	2645	GCK	OMIM:125851
HP:0410280	Pediatric onset	203286	ANKS6	OMIM:615382
HP:0410280	Pediatric onset	567	B2M	OMIM:241600
HP:0410280	Pediatric onset	10935	PRDX3	OMIM:619862
HP:0410280	Pediatric onset	10935	PRDX3	OMIM:619871
HP:0410280	Pediatric onset	5297	PI4KA	OMIM:619621
HP:0410280	Pediatric onset	83636	C19orf12	OMIM:614298
HP:0410280	Pediatric onset	83636	C19orf12	OMIM:615043
HP:0410280	Pediatric onset	4439	MSH5	OMIM:617442
HP:0410280	Pediatric onset	7466	WFS1	OMIM:614296
HP:0410280	Pediatric onset	7466	WFS1	OMIM:222300
HP:0410280	Pediatric onset	7466	WFS1	OMIM:600965
HP:0410280	Pediatric onset	9723	SEMA3E	OMIM:146110
HP:0410280	Pediatric onset	558	AXL	OMIM:146110
HP:0410280	Pediatric onset	2798	GNRHR	OMIM:146110
HP:0410280	Pediatric onset	2796	GNRH1	OMIM:146110
HP:0410280	Pediatric onset	10011	SRA1	OMIM:146110
HP:0410280	Pediatric onset	55717	WDR11	OMIM:146110
HP:0410280	Pediatric onset	8822	FGF17	OMIM:146110
HP:0410280	Pediatric onset	1848	DUSP6	OMIM:146110
HP:0410280	Pediatric onset	81848	SPRY4	OMIM:146110
HP:0410280	Pediatric onset	285025	CCDC141	OMIM:146110
HP:0410280	Pediatric onset	389549	FEZF1	OMIM:146110
HP:0410280	Pediatric onset	389549	FEZF1	OMIM:616030
HP:0410280	Pediatric onset	51271	UBAP1	OMIM:618418
HP:0410280	Pediatric onset	55526	DHTKD1	OMIM:615025
HP:0410280	Pediatric onset	1201	CLN3	OMIM:204200
HP:0410280	Pediatric onset	90268	OTULIN	OMIM:619986
HP:0410280	Pediatric onset	54840	APTX	OMIM:208920
HP:0410280	Pediatric onset	6392	SDHD	OMIM:168000
HP:0410280	Pediatric onset	9529	BAG5	OMIM:619747
HP:0410280	Pediatric onset	950	SCARB2	OMIM:254900
HP:0410280	Pediatric onset	79158	GNPTAB	OMIM:252600
HP:0410280	Pediatric onset	9927	MFN2	OMIM:601152
HP:0410280	Pediatric onset	4053	LTBP2	OMIM:251750
HP:0410280	Pediatric onset	59341	TRPV4	OMIM:606835
HP:0410280	Pediatric onset	59341	TRPV4	OMIM:184252
HP:0410280	Pediatric onset	10594	PRPF8	OMIM:600059
HP:0410280	Pediatric onset	113612	CYP2U1	OMIM:615030
HP:0410280	Pediatric onset	1499	CTNNB1	OMIM:617572
HP:0410280	Pediatric onset	1770	DNAH9	OMIM:618300
HP:0410280	Pediatric onset	10043	TOM1	OMIM:619510
HP:0410280	Pediatric onset	3572	IL6ST	OMIM:619752
HP:0410280	Pediatric onset	5311	PKD2	OMIM:613095
HP:0410280	Pediatric onset	29775	CARD10	OMIM:619632
HP:0410280	Pediatric onset	23767	FLRT3	OMIM:615271
HP:0410280	Pediatric onset	402381	SOHLH1	OMIM:617690
HP:0410280	Pediatric onset	63982	ANO3	OMIM:615034
HP:0410280	Pediatric onset	91574	MTRFR	OMIM:615035
HP:0410280	Pediatric onset	8879	SGPL1	OMIM:617575
HP:0410280	Pediatric onset	54914	FOCAD	OMIM:619991
HP:0410280	Pediatric onset	805	CALM2	OMIM:616249
HP:0410280	Pediatric onset	5593	PRKG2	OMIM:619638
HP:0410280	Pediatric onset	54902	TTC19	OMIM:615157
HP:0410280	Pediatric onset	5295	PIK3R1	OMIM:616005
HP:0410280	Pediatric onset	389692	MAFA	OMIM:147630
HP:0410280	Pediatric onset	4808	NHLH2	OMIM:619755
HP:0410280	Pediatric onset	6262	RYR2	OMIM:604772
HP:0410280	Pediatric onset	845	CASQ2	OMIM:604772
HP:0410280	Pediatric onset	10345	TRDN	OMIM:604772
HP:0410280	Pediatric onset	1180	CLCN1	OMIM:255700
HP:0410280	Pediatric onset	1180	CLCN1	OMIM:160800
HP:0410280	Pediatric onset	6606	SMN1	OMIM:253400
HP:0410280	Pediatric onset	6607	SMN2	OMIM:253400
HP:0410280	Pediatric onset	51284	TLR7	OMIM:301080
HP:0410280	Pediatric onset	111	ADCY5	OMIM:606703
HP:0410280	Pediatric onset	10908	PNPLA6	OMIM:215470
HP:0410280	Pediatric onset	10059	DNM1L	OMIM:610708
HP:0410280	Pediatric onset	117531	TMC1	OMIM:606705
HP:0410280	Pediatric onset	117531	TMC1	OMIM:600974
HP:0410280	Pediatric onset	6101	RP1	OMIM:180100
HP:0410280	Pediatric onset	79991	STN1	OMIM:617341
HP:0410280	Pediatric onset	6305	SBF1	OMIM:615284
HP:0410280	Pediatric onset	11234	HPS5	OMIM:614074
HP:0410280	Pediatric onset	7075	TIE1	OMIM:619401
HP:0410280	Pediatric onset	3098	HK1	OMIM:617460
HP:0410280	Pediatric onset	3098	HK1	OMIM:605285
HP:0410280	Pediatric onset	84343	HPS3	OMIM:614072
HP:0410280	Pediatric onset	57169	ZNFX1	OMIM:619644
HP:0410280	Pediatric onset	150274	HSCB	OMIM:619523
HP:0410280	Pediatric onset	6329	SCN4A	OMIM:614198
HP:0410280	Pediatric onset	27068	PPA2	OMIM:617223
HP:0410280	Pediatric onset	5800	PTPRO	OMIM:614196
HP:0410280	Pediatric onset	2542	SLC37A4	OMIM:619525
HP:0410280	Pediatric onset	6117	RPA1	OMIM:619767
HP:0410280	Pediatric onset	256471	MFSD8	OMIM:610951
HP:0410280	Pediatric onset	11261	CHP1	OMIM:618438
HP:0410280	Pediatric onset	540	ATP7B	OMIM:277900
HP:0410280	Pediatric onset	6925	TCF4	OMIM:610954
HP:0410280	Pediatric onset	7139	TNNT2	OMIM:601494
HP:0410280	Pediatric onset	2556	GABRA3	OMIM:301091
HP:0410280	Pediatric onset	3373	HYAL1	OMIM:601492
HP:0410280	Pediatric onset	10280	SIGMAR1	OMIM:605726
HP:0410280	Pediatric onset	23299	BICD2	OMIM:615290
HP:0410280	Pediatric onset	83723	TLCD3B	OMIM:619531
HP:0410280	Pediatric onset	11284	PNKP	OMIM:616267
HP:0410280	Pediatric onset	3423	IDS	OMIM:309900
HP:0410280	Pediatric onset	64377	CHST8	OMIM:616265
HP:0410280	Pediatric onset	2395	FXN	OMIM:229300
HP:0410280	Pediatric onset	2694	CBLIF	OMIM:261000
HP:0410280	Pediatric onset	10463	SLC30A9	OMIM:617595
HP:0410280	Pediatric onset	79651	RHBDF2	OMIM:148500
HP:0410280	Pediatric onset	8974	P4HA2	OMIM:617238
HP:0410280	Pediatric onset	2591	GALNT3	OMIM:211900
HP:0410280	Pediatric onset	5213	PFKM	OMIM:232800
HP:0410280	Pediatric onset	23499	MACF1	OMIM:618325
HP:0410280	Pediatric onset	775	CACNA1C	OMIM:618447
HP:0410280	Pediatric onset	54532	USP53	OMIM:619658
HP:0410280	Pediatric onset	51062	ATL1	OMIM:182600
HP:0410280	Pediatric onset	51196	PLCE1	OMIM:610725
HP:0410280	Pediatric onset	51311	TLR8	OMIM:301078
HP:0410280	Pediatric onset	1967	EIF2B1	OMIM:603896
HP:0410280	Pediatric onset	79628	SH3TC2	OMIM:601596
HP:0410280	Pediatric onset	1832	DSP	OMIM:612908
HP:0410280	Pediatric onset	6330	SCN4B	OMIM:611819
HP:0410280	Pediatric onset	859	CAV3	OMIM:611818
HP:0410280	Pediatric onset	859	CAV3	OMIM:606072
HP:0410280	Pediatric onset	859	CAV3	OMIM:614321
HP:0410280	Pediatric onset	5083	PAX9	OMIM:604625
HP:0410280	Pediatric onset	5654	HTRA1	OMIM:600142
HP:0410280	Pediatric onset	2055	CLN8	OMIM:600143
HP:0410280	Pediatric onset	2000	ELF4	OMIM:301074
HP:0410280	Pediatric onset	1536	CYBB	OMIM:306400
HP:0410280	Pediatric onset	1756	DMD	OMIM:302045
HP:0410280	Pediatric onset	6261	RYR1	OMIM:619542
HP:0410280	Pediatric onset	54443	ANLN	OMIM:616032
HP:0410280	Pediatric onset	59345	GNB4	OMIM:615185
HP:0410280	Pediatric onset	23514	SPIDR	OMIM:619665
HP:0410280	Pediatric onset	3980	LIG3	OMIM:619780
HP:0410280	Pediatric onset	79734	KCTD17	OMIM:616398
HP:0410280	Pediatric onset	3508	IGHMBP2	OMIM:616155
HP:0410280	Pediatric onset	113220	KIF12	OMIM:619662
HP:0410280	Pediatric onset	203859	ANO5	OMIM:166260
HP:0410280	Pediatric onset	5426	POLE	OMIM:618336
HP:0410280	Pediatric onset	1642	DDB1	OMIM:619426
HP:0410280	Pediatric onset	10142	AKAP9	OMIM:611820
HP:0410280	Pediatric onset	9138	ARHGEF1	OMIM:618459
HP:0410280	Pediatric onset	389827	MYMK	OMIM:254940
HP:0410280	Pediatric onset	23064	SETX	OMIM:602433
HP:0410280	Pediatric onset	1134	CHRNA1	OMIM:601462
HP:0410280	Pediatric onset	695	BTK	OMIM:300755
HP:0410280	Pediatric onset	4728	NDUFS8	OMIM:618222
HP:0410280	Pediatric onset	4175	MCM6	OMIM:223100
HP:0410280	Pediatric onset	2774	GNAL	OMIM:615073
HP:0410280	Pediatric onset	9210	BMP15	OMIM:300510
HP:0410280	Pediatric onset	50	ACO2	OMIM:616289
HP:0410280	Pediatric onset	79876	UBA5	OMIM:617133
HP:0410280	Pediatric onset	79912	PYROXD1	OMIM:617258
HP:0410280	Pediatric onset	2778	GNAS	OMIM:166350
HP:0410280	Pediatric onset	57122	NUP107	OMIM:618348
HP:0410280	Pediatric onset	57122	NUP107	OMIM:618078
HP:0410280	Pediatric onset	3426	CFI	OMIM:610984
HP:0410280	Pediatric onset	4179	CD46	OMIM:612922
HP:0410280	Pediatric onset	718	C3	OMIM:612925
HP:0410280	Pediatric onset	6442	SGCA	OMIM:608099
HP:0410280	Pediatric onset	55243	KIRREL1	OMIM:619201
HP:0410280	Pediatric onset	5515	PPP2CA	OMIM:618354
HP:0410280	Pediatric onset	84909	AOPEP	OMIM:619565
HP:0410280	Pediatric onset	745	MYRF	OMIM:618113
HP:0410280	Pediatric onset	1436	CSF1R	OMIM:618476
HP:0410280	Pediatric onset	478	ATP1A3	OMIM:601338
HP:0410280	Pediatric onset	478	ATP1A3	OMIM:128235
HP:0410280	Pediatric onset	5610	EIF2AK2	OMIM:619687
HP:0410280	Pediatric onset	3714	JAG2	OMIM:619566
HP:0410280	Pediatric onset	6340	SCNN1G	OMIM:618114
HP:0410280	Pediatric onset	92667	MGME1	OMIM:615084
HP:0410280	Pediatric onset	6096	RORB	OMIM:618357
HP:0410280	Pediatric onset	112755	STX1B	OMIM:616172
HP:0410280	Pediatric onset	4722	NDUFS3	OMIM:618230
HP:0410280	Pediatric onset	23586	RIGI	OMIM:616298
HP:0410280	Pediatric onset	51163	DBR1	OMIM:619441
HP:0410280	Pediatric onset	60509	AGBL5	OMIM:617023
HP:0410280	Pediatric onset	8912	CACNA1H	OMIM:617027
HP:0410280	Pediatric onset	56945	MRPS22	OMIM:618117
HP:0410280	Pediatric onset	3939	LDHA	OMIM:612933
HP:0410280	Pediatric onset	4010	LMX1B	OMIM:256020
HP:0410280	Pediatric onset	54344	DPM3	OMIM:612937
HP:0410280	Pediatric onset	2710	GK	OMIM:307030
HP:0410280	Pediatric onset	10166	SLC25A15	OMIM:238970
HP:0410280	Pediatric onset	427	ASAH1	OMIM:159950
HP:0410280	Pediatric onset	23005	MAPKBP1	OMIM:617271
HP:0410280	Pediatric onset	5071	PRKN	OMIM:600116
HP:0410280	Pediatric onset	4627	MYH9	OMIM:603622
HP:0410280	Pediatric onset	4166	CHST6	OMIM:217800
HP:0410280	Pediatric onset	84061	MAGT1	OMIM:300853
HP:0410280	Pediatric onset	8888	MCM3AP	OMIM:618124
HP:0410280	Pediatric onset	254394	MCM9	OMIM:616185
HP:0410280	Pediatric onset	63910	SLC17A9	OMIM:616063
HP:0410280	Pediatric onset	122622	ADSS1	OMIM:617030
HP:0410280	Pediatric onset	6530	SLC6A2	OMIM:604715
HP:0410280	Pediatric onset	29978	UBQLN2	OMIM:300857
HP:0410280	Pediatric onset	50619	DEF6	OMIM:619573
HP:0410280	Pediatric onset	7275	TUB	OMIM:616188
HP:0410280	Pediatric onset	3746	KCNC1	OMIM:616187
HP:0410280	Pediatric onset	7170	TPM3	OMIM:609284
HP:0410280	Pediatric onset	7169	TPM2	OMIM:609285
HP:0410280	Pediatric onset	4625	MYH7	OMIM:255160
HP:0410280	Pediatric onset	4625	MYH7	OMIM:613426
HP:0410280	Pediatric onset	2218	FKTN	OMIM:611615
HP:0410280	Pediatric onset	2010	EMD	OMIM:310300
HP:0410280	Pediatric onset	6102	RP2	OMIM:312600
HP:0410280	Pediatric onset	4864	NPC1	OMIM:257220
HP:0410280	Pediatric onset	55863	TMEM126B	OMIM:618250
HP:0410280	Pediatric onset	112812	FDX2	OMIM:251900
HP:0410280	Pediatric onset	51102	MECR	OMIM:617282
HP:0410280	Pediatric onset	5611	DNAJC3	OMIM:616192
HP:0410280	Pediatric onset	84892	POMGNT2	OMIM:618135
HP:0410280	Pediatric onset	9757	KMT2B	OMIM:617284
HP:0410280	Pediatric onset	2318	FLNC	OMIM:617047
HP:0410280	Pediatric onset	4015	LOX	OMIM:617168
HP:0410280	Pediatric onset	55340	GIMAP5	OMIM:619463
HP:0410280	Pediatric onset	84705	GTPBP3	OMIM:616198
HP:0410280	Pediatric onset	3908	LAMA2	OMIM:618138
HP:0410280	Pediatric onset	8398	PLA2G6	OMIM:612953
HP:0410280	Pediatric onset	9531	BAG3	OMIM:612954
HP:0410280	Pediatric onset	339829	CCDC39	OMIM:613807
HP:0410280	Pediatric onset	9563	H6PD	OMIM:604931
HP:0410280	Pediatric onset	6338	SCNN1B	OMIM:177200
HP:0410280	Pediatric onset	10205	MPZL2	OMIM:618145
HP:0410280	Pediatric onset	10519	CIB1	OMIM:618267
HP:0410280	Pediatric onset	55213	RCBTB1	OMIM:617175
HP:0410280	Pediatric onset	6424	SFRP4	OMIM:265900
HP:0410280	Pediatric onset	1053	CEBPE	OMIM:260570
HP:0410280	Pediatric onset	55229	PANK4	OMIM:619593
HP:0410280	Pediatric onset	64849	SLC13A3	OMIM:618384
HP:0410280	Pediatric onset	570	BAAT	OMIM:619232
HP:0410280	Pediatric onset	26580	BSCL2	OMIM:619112
HP:0410280	Pediatric onset	26580	BSCL2	OMIM:270685
HP:0410280	Pediatric onset	29927	SEC61A1	OMIM:617056
HP:0410280	Pediatric onset	920	CD4	OMIM:619238
HP:0410280	Pediatric onset	84196	USP48	OMIM:620227
HP:0410280	Pediatric onset	2673	GFPT1	OMIM:610542
HP:0410280	Pediatric onset	286	ANK1	OMIM:182900
HP:0410280	Pediatric onset	2335	FN1	OMIM:601894
HP:0410280	Pediatric onset	8204	NRIP1	OMIM:618270
HP:0410280	Pediatric onset	6573	SLC19A1	OMIM:601775
HP:0410280	Pediatric onset	84868	HAVCR2	OMIM:618398
HP:0410280	Pediatric onset	10483	SEC23B	OMIM:224100
HP:0410280	Pediatric onset	476	ATP1A1	OMIM:618036
HP:0410280	Pediatric onset	5375	PMP2	OMIM:618279
HP:0410280	Pediatric onset	60676	PAPPA2	OMIM:619489
HP:0410280	Pediatric onset	6566	SLC16A1	OMIM:616095
HP:0410280	Pediatric onset	55145	THAP1	OMIM:602629
HP:0410280	Pediatric onset	2273	FHL1	OMIM:300718
HP:0410280	Pediatric onset	3419	IDH3A	OMIM:619007
HP:0410280	Pediatric onset	23516	SLC39A14	OMIM:144755
HP:0410280	Pediatric onset	4322	MMP13	OMIM:250400
HP:0410280	Pediatric onset	6508	SLC4A3	OMIM:620231
HP:0410280	Pediatric onset	801	CALM1	OMIM:614916
HP:0410280	Pediatric onset	26092	TOR1AIP1	OMIM:617072
HP:0410280	Pediatric onset	81624	DIAPH3	OMIM:609129
HP:0410280	Pediatric onset	1497	CTNS	OMIM:219900
HP:0410280	Pediatric onset	1497	CTNS	OMIM:219750
HP:0410280	Pediatric onset	8651	SOCS1	OMIM:619375
HP:0410280	Pediatric onset	85358	SHANK3	OMIM:613950
HP:0410280	Pediatric onset	60386	SLC25A19	OMIM:613710
HP:0410280	Pediatric onset	4094	MAF	OMIM:610202
HP:0410280	Pediatric onset	138050	HGSNAT	OMIM:252930
HP:0410280	Pediatric onset	256472	TMEM151A	OMIM:620245
HP:0410280	Pediatric onset	5354	PLP1	OMIM:312920
HP:0410280	Pediatric onset	1719	DHFR	OMIM:613839
HP:0410280	Pediatric onset	51778	MYOZ2	OMIM:613838
HP:0410280	Pediatric onset	84277	DNAJC30	OMIM:619382
HP:0410280	Pediatric onset	403	ARL3	OMIM:618173
HP:0410280	Pediatric onset	23193	GANAB	OMIM:600666
HP:0410280	Pediatric onset	2296	FOXC1	OMIM:601631
HP:0410280	Pediatric onset	23279	NUP160	OMIM:618178
HP:0410280	Pediatric onset	1604	CD55	OMIM:226300
HP:0410280	Pediatric onset	84842	HPDL	OMIM:619027
HP:0410280	Pediatric onset	23500	DAAM2	OMIM:619263
HP:0410280	Pediatric onset	79902	NUP85	OMIM:618176
HP:0410280	Pediatric onset	8910	SGCE	OMIM:159900
HP:0410280	Pediatric onset	125170	MIEF2	OMIM:619024
HP:0410280	Pediatric onset	55746	NUP133	OMIM:618177
HP:0410280	Pediatric onset	6559	SLC12A3	OMIM:263800
HP:0410280	Pediatric onset	10749	KIF1C	OMIM:611302
HP:0410280	Pediatric onset	90523	MLIP	OMIM:620138
HP:0410280	Pediatric onset	1584	CYP11B1	OMIM:103900
HP:0410280	Pediatric onset	23224	SYNE2	OMIM:612999
HP:0410280	Pediatric onset	9935	MAFB	OMIM:166300
HP:0410280	Pediatric onset	5256	PHKA2	OMIM:306000
HP:0410280	Pediatric onset	6342	SCP2	OMIM:613724
HP:0410280	Pediatric onset	4669	NAGLU	OMIM:252920
HP:0410280	Pediatric onset	64858	DCLRE1B	OMIM:620133
HP:0410280	Pediatric onset	10299	MARCHF6	OMIM:613608
HP:0410280	Pediatric onset	1308	COL17A1	OMIM:122400
HP:0410280	Pediatric onset	55129	ANO10	OMIM:613728
HP:0410280	Pediatric onset	80036	TRPM3	OMIM:620253
HP:0410280	Pediatric onset	773	CACNA1A	OMIM:183086
HP:0410280	Pediatric onset	773	CACNA1A	OMIM:141500
HP:0410280	Pediatric onset	2131	EXT1	OMIM:133700
HP:0410280	Pediatric onset	5376	PMP22	OMIM:118300
HP:0410280	Pediatric onset	5376	PMP22	OMIM:180800
HP:0410280	Pediatric onset	5376	PMP22	OMIM:118220
HP:0410280	Pediatric onset	5376	PMP22	OMIM:162500
HP:0410280	Pediatric onset	2132	EXT2	OMIM:133701
HP:0410280	Pediatric onset	80821	DDHD1	OMIM:609340
HP:0410280	Pediatric onset	5009	OTC	OMIM:311250
HP:0410280	Pediatric onset	785	CACNB4	OMIM:613855
HP:0410280	Pediatric onset	785	CACNB4	OMIM:607682
HP:0410280	Pediatric onset	55851	PSENEN	OMIM:613736
HP:0410280	Pediatric onset	5894	RAF1	OMIM:615916
HP:0410280	Pediatric onset	130557	ZNF513	OMIM:613617
HP:0410280	Pediatric onset	4359	MPZ	OMIM:180800
HP:0410280	Pediatric onset	4359	MPZ	OMIM:118200
HP:0410280	Pediatric onset	5293	PIK3CD	OMIM:619281
HP:0410280	Pediatric onset	7879	RAB7A	OMIM:600882
HP:0410280	Pediatric onset	6840	SVIL	OMIM:619040
HP:0410280	Pediatric onset	538	ATP7A	OMIM:300489
HP:0410280	Pediatric onset	843	CASP10	OMIM:603909
HP:0410280	Pediatric onset	79947	DHDDS	OMIM:613861
HP:0410280	Pediatric onset	1135	CHRNA2	OMIM:610353
HP:0410280	Pediatric onset	55788	LMBRD1	OMIM:277380
HP:0410280	Pediatric onset	9128	PRPF4	OMIM:615922
HP:0410280	Pediatric onset	50940	PDE11A	OMIM:610475
HP:0410280	Pediatric onset	55651	NHP2	OMIM:613987
HP:0410280	Pediatric onset	1824	DSC2	OMIM:610476
HP:0410280	Pediatric onset	54476	RNF216	OMIM:212840
HP:0410280	Pediatric onset	84634	KISS1R	OMIM:614837
HP:0410280	Pediatric onset	7015	TERT	OMIM:613989
HP:0410280	Pediatric onset	58528	RRAGD	OMIM:620152
HP:0410280	Pediatric onset	7298	TYMS	OMIM:620040
HP:0410280	Pediatric onset	51204	TACO1	OMIM:619052
HP:0410280	Pediatric onset	7827	NPHS2	OMIM:600995
HP:0410280	Pediatric onset	5649	RELN	OMIM:600512
HP:0410280	Pediatric onset	64780	MICAL1	OMIM:600512
HP:0410280	Pediatric onset	9211	LGI1	OMIM:600512
HP:0410280	Pediatric onset	64601	VPS16	OMIM:619291
HP:0410280	Pediatric onset	6452	SH3BP2	OMIM:118400
HP:0410280	Pediatric onset	1427	CRYGS	OMIM:116100
HP:0410280	Pediatric onset	116228	COX20	OMIM:619054
HP:0410280	Pediatric onset	6521	SLC4A1	OMIM:179800
HP:0410280	Pediatric onset	26277	TINF2	OMIM:613990
HP:0410280	Pediatric onset	64207	IRF2BPL	OMIM:618088
HP:0410280	Pediatric onset	7040	TGFB1	OMIM:131300
HP:0410280	Pediatric onset	274	BIN1	OMIM:255200
HP:0410280	Pediatric onset	3988	LIPA	OMIM:278000
HP:0410280	Pediatric onset	353	APRT	OMIM:614723
HP:0410280	Pediatric onset	5624	PROC	OMIM:612304
HP:0410280	Pediatric onset	3814	KISS1	OMIM:614842
HP:0410280	Pediatric onset	10939	AFG3L2	OMIM:610246
HP:0410280	Pediatric onset	91624	NEXN	OMIM:613876
HP:0410280	Pediatric onset	5573	PRKAR1A	OMIM:610489
HP:0410280	Pediatric onset	3778	KCNMA1	OMIM:609446
HP:0410280	Pediatric onset	6843	VAMP1	OMIM:108600
HP:0410280	Pediatric onset	256297	PTF1A	OMIM:615935
HP:0410280	Pediatric onset	29967	LRP12	OMIM:164310
HP:0410280	Pediatric onset	64087	MCCC2	OMIM:210210
HP:0410280	Pediatric onset	1854	DUT	OMIM:620044
HP:0410280	Pediatric onset	22	ABCB7	OMIM:301310
HP:0410280	Pediatric onset	100303755	PET117	OMIM:619063
HP:0410280	Pediatric onset	57697	FANCM	OMIM:618096
HP:0410280	Pediatric onset	9750	RIPOR2	OMIM:607017
HP:0410280	Pediatric onset	65055	REEP1	OMIM:610250
HP:0410280	Pediatric onset	65055	REEP1	OMIM:614751
HP:0410280	Pediatric onset	2720	GLB1	OMIM:253010
HP:0410280	Pediatric onset	54805	CNNM2	OMIM:613882
HP:0410280	Pediatric onset	9517	SPTLC2	OMIM:613640
HP:0410280	Pediatric onset	26090	ABHD12	OMIM:612674
HP:0410280	Pediatric onset	55775	TDP1	OMIM:607250
HP:0410280	Pediatric onset	2492	FSHR	OMIM:233300
HP:0410280	Pediatric onset	1729	DIAPH1	OMIM:124900
HP:0410280	Pediatric onset	1600	DAB1	OMIM:615945
HP:0410280	Pediatric onset	388551	CEACAM16	OMIM:614614
HP:0410280	Pediatric onset	6399	TRAPPC2	OMIM:313400
HP:0410280	Pediatric onset	56922	MCCC1	OMIM:210200
HP:0410280	Pediatric onset	9096	TBX18	OMIM:143400
HP:0410280	Pediatric onset	144165	PRICKLE1	OMIM:612437
HP:0410280	Pediatric onset	283375	SLC39A5	OMIM:615946
HP:0410280	Pediatric onset	79152	FA2H	OMIM:612319
HP:0410280	Pediatric onset	113278	SLC52A3	OMIM:211530
HP:0410280	Pediatric onset	80216	ALPK1	OMIM:614979
HP:0410280	Pediatric onset	22953	P2RX2	OMIM:608224
HP:0410280	Pediatric onset	7915	ALDH5A1	OMIM:271980
HP:0410280	Pediatric onset	84138	SLC7A6OS	OMIM:619191
HP:0410280	Pediatric onset	4607	MYBPC3	OMIM:115197
HP:0410280	Pediatric onset	114548	NLRP3	OMIM:191900
HP:0410280	Pediatric onset	114548	NLRP3	OMIM:148200
HP:0410280	Pediatric onset	6774	STAT3	OMIM:615952
HP:0410280	Pediatric onset	5149	PDE6H	OMIM:610024
HP:0410280	Pediatric onset	90624	LYRM7	OMIM:615838
HP:0410280	Pediatric onset	5978	REST	OMIM:616806
HP:0410280	Pediatric onset	5978	REST	OMIM:617626
HP:0410280	Pediatric onset	375748	ERCC6L2	OMIM:615715
HP:0410280	Pediatric onset	80704	SLC19A3	OMIM:607483
HP:0410280	Pediatric onset	80025	PANK2	OMIM:234200
HP:0410280	Pediatric onset	80025	PANK2	OMIM:607236
HP:0410280	Pediatric onset	1188	CLCNKB	OMIM:607364
HP:0410280	Pediatric onset	23175	LPIN1	OMIM:268200
HP:0410280	Pediatric onset	492	ATP2B3	OMIM:302500
HP:0410280	Pediatric onset	3251	HPRT1	OMIM:300322
HP:0410280	Pediatric onset	190	NR0B1	OMIM:300200
HP:0410280	Pediatric onset	3208	HPCA	OMIM:224500
HP:0410280	Pediatric onset	1294	COL7A1	OMIM:131850
HP:0410280	Pediatric onset	9896	FIG4	OMIM:612691
HP:0410280	Pediatric onset	5428	POLG	OMIM:613662
HP:0410280	Pediatric onset	5428	POLG	OMIM:607459
HP:0410280	Pediatric onset	5428	POLG	OMIM:603041
HP:0410280	Pediatric onset	5192	PEX10	OMIM:614871
HP:0410280	Pediatric onset	2512	FTL	OMIM:615604
HP:0410280	Pediatric onset	11149	BVES	OMIM:616812
HP:0410280	Pediatric onset	1811	SLC26A3	OMIM:214700
HP:0410280	Pediatric onset	29110	TBK1	OMIM:617900
HP:0410280	Pediatric onset	7274	TTPA	OMIM:277460
HP:0410280	Pediatric onset	112476	PRRT2	OMIM:128200
HP:0410280	Pediatric onset	112476	PRRT2	OMIM:602066
HP:0410280	Pediatric onset	5191	PEX7	OMIM:614879
HP:0410280	Pediatric onset	6742	SSBP1	OMIM:165510
HP:0410280	Pediatric onset	6204	RPS10	OMIM:613308
HP:0410280	Pediatric onset	1186	CLCN7	OMIM:166600
HP:0410280	Pediatric onset	7234	TRU-TCA1-1	OMIM:620198
HP:0410280	Pediatric onset	7369	UMOD	OMIM:162000
HP:0410280	Pediatric onset	81031	SLC2A10	OMIM:208050
HP:0410280	Pediatric onset	5230	PGK1	OMIM:300653
HP:0410280	Pediatric onset	2717	GLA	OMIM:301500
HP:0410280	Pediatric onset	10002	NR2E3	OMIM:611131
HP:0410280	Pediatric onset	10661	KLF1	OMIM:613673
HP:0410280	Pediatric onset	5167	ENPP1	OMIM:613312
HP:0410280	Pediatric onset	445	ASS1	OMIM:215700
HP:0410280	Pediatric onset	1535	CYBA	OMIM:233690
HP:0410280	Pediatric onset	57704	GBA2	OMIM:614409
HP:0410280	Pediatric onset	29119	CTNNA3	OMIM:615616
HP:0410280	Pediatric onset	3752	KCND3	OMIM:607346
HP:0410280	Pediatric onset	7045	TGFBI	OMIM:121820
HP:0410280	Pediatric onset	7045	TGFBI	OMIM:607541
HP:0410280	Pediatric onset	26353	HSPB8	OMIM:608673
HP:0410280	Pediatric onset	23479	ISCU	OMIM:255125
HP:0410280	Pediatric onset	4313	MMP2	OMIM:259600
HP:0410280	Pediatric onset	56652	TWNK	OMIM:607459
HP:0410280	Pediatric onset	8481	OFD1	OMIM:300424
HP:0410280	Pediatric onset	51004	COQ6	OMIM:614650
HP:0410280	Pediatric onset	10457	GPNMB	OMIM:617920
HP:0410280	Pediatric onset	51308	REEP2	OMIM:615625
HP:0410280	Pediatric onset	22858	CILK1	OMIM:617924
HP:0410280	Pediatric onset	57165	GJC2	OMIM:613206
HP:0410280	Pediatric onset	57165	GJC2	OMIM:613480
HP:0410280	Pediatric onset	3371	TNC	OMIM:615629
HP:0410280	Pediatric onset	10382	TUBB4A	OMIM:128101
HP:0410280	Pediatric onset	23534	TNPO3	OMIM:608423
HP:0410280	Pediatric onset	113457	TUBA3D	OMIM:617928
HP:0410280	Pediatric onset	6323	SCN1A	OMIM:609634
HP:0410280	Pediatric onset	57094	CPA6	OMIM:614417
HP:0410280	Pediatric onset	1785	DNM2	OMIM:606482
HP:0410280	Pediatric onset	865	CBFB	OMIM:620099
HP:0410280	Pediatric onset	55703	POLR3B	OMIM:607694
HP:0410280	Pediatric onset	11128	POLR3A	OMIM:607694
HP:0410280	Pediatric onset	3736	KCNA1	OMIM:160120
HP:0410280	Pediatric onset	201294	UNC13D	OMIM:608898
HP:0410280	Pediatric onset	1121	CHM	OMIM:303100
HP:0410280	Pediatric onset	92935	MARS2	OMIM:611390
HP:0410280	Pediatric onset	631	BFSP1	OMIM:611391
HP:0410280	Pediatric onset	25923	ATL3	OMIM:615632
HP:0410280	Pediatric onset	4688	NCF2	OMIM:233710
HP:0410280	Pediatric onset	114327	EFHC1	OMIM:254770
HP:0410280	Pediatric onset	114327	EFHC1	OMIM:607631
HP:0410280	Pediatric onset	3290	HSD11B1	OMIM:614662
HP:0410280	Pediatric onset	1776	DNASE1L3	OMIM:614420
HP:0410280	Pediatric onset	23394	ADNP	OMIM:615873
HP:0410280	Pediatric onset	6513	SLC2A1	OMIM:612126
HP:0410280	Pediatric onset	11133	KPTN	OMIM:615637
HP:0410280	Pediatric onset	4803	NGF	OMIM:608654
HP:0410280	Pediatric onset	4747	NEFL	OMIM:607684
HP:0410280	Pediatric onset	4747	NEFL	OMIM:607734
HP:0410280	Pediatric onset	4747	NEFL	OMIM:617882
HP:0410280	Pediatric onset	2200	FBN1	OMIM:129600
HP:0410280	Pediatric onset	1959	EGR2	OMIM:607678
HP:0410280	Pediatric onset	54768	HYDIN	OMIM:608647
HP:0410280	Pediatric onset	1822	ATN1	OMIM:125370
HP:0410280	Pediatric onset	50939	IMPG2	OMIM:613581
HP:0410280	Pediatric onset	1829	DSG2	OMIM:610193
HP:0410280	Pediatric onset	1806	DPYD	OMIM:274270
HP:0410280	Pediatric onset	440275	EIF2AK4	OMIM:234810
HP:0410280	Pediatric onset	137682	NDUFAF6	OMIM:618913
HP:0410280	Pediatric onset	84876	ORAI1	OMIM:615883
HP:0410280	Pediatric onset	6900	CNTN2	OMIM:615400
HP:0410280	Pediatric onset	57505	AARS2	OMIM:615889
HP:0410280	Pediatric onset	10758	TRAF3IP2	OMIM:615527
HP:0410280	Pediatric onset	6443	SGCB	OMIM:604286
HP:0410280	Pediatric onset	9829	DNAJC6	OMIM:615528
HP:0410280	Pediatric onset	3784	KCNQ1	OMIM:607554
HP:0410280	Pediatric onset	64135	IFIH1	OMIM:182250
HP:0410280	Pediatric onset	3643	INSR	OMIM:609968
HP:0410280	Pediatric onset	727676	SNORD118	OMIM:614561
HP:0410280	Pediatric onset	54885	TBC1D8B	OMIM:301028
HP:0410280	Pediatric onset	6578	SLCO2A1	OMIM:614441
HP:0410280	Pediatric onset	7128	TNFAIP3	OMIM:616744
HP:0410280	Pediatric onset	2072	ERCC4	OMIM:278760
HP:0410280	Pediatric onset	10560	SLC19A2	OMIM:249270
HP:0410280	Pediatric onset	29893	PSMC3IP	OMIM:614324
HP:0410280	Pediatric onset	2058	EPRS1	OMIM:617951
HP:0410280	Pediatric onset	102	ADAM10	OMIM:615537
HP:0410280	Pediatric onset	1000	CDH2	OMIM:618920
HP:0410280	Pediatric onset	54463	RETREG1	OMIM:613115
HP:0410280	Pediatric onset	5837	PYGM	OMIM:232600
HP:0410280	Pediatric onset	26525	IL36RN	OMIM:614204
HP:0410280	Pediatric onset	708	C1QBP	OMIM:617713
HP:0410280	Pediatric onset	4634	MYL3	OMIM:608751
HP:0410280	Pediatric onset	2232	FDXR	OMIM:617717
HP:0410280	Pediatric onset	3759	KCNJ2	OMIM:170390
HP:0410280	Pediatric onset	4361	MRE11	OMIM:604391
HP:0410280	Pediatric onset	80208	SPG11	OMIM:602099
HP:0410280	Pediatric onset	80208	SPG11	OMIM:604360
HP:0410280	Pediatric onset	80208	SPG11	OMIM:616668
HP:0410280	Pediatric onset	23400	ATP13A2	OMIM:606693
HP:0410280	Pediatric onset	9420	CYP7B1	OMIM:270800
HP:0410280	Pediatric onset	7046	TGFBR1	OMIM:132800
HP:0410280	Pediatric onset	3868	KRT16	OMIM:613000
HP:0410280	Pediatric onset	55857	KIZ	OMIM:615780
HP:0410280	Pediatric onset	7098	TLR3	OMIM:613002
HP:0410280	Pediatric onset	547	KIF1A	OMIM:614213
HP:0410280	Pediatric onset	64423	INF2	OMIM:614455
HP:0410280	Pediatric onset	7289	TULP3	OMIM:619902
HP:0410280	Pediatric onset	7134	TNNC1	OMIM:613243
HP:0410280	Pediatric onset	8884	SLC5A6	OMIM:619903
HP:0410280	Pediatric onset	7453	WARS1	OMIM:617721
HP:0410280	Pediatric onset	23152	CIC	OMIM:617600
HP:0410280	Pediatric onset	149461	CLDN19	OMIM:248190
HP:0410280	Pediatric onset	10320	IKZF1	OMIM:616873
HP:0410280	Pediatric onset	2224	FDPS	OMIM:616631
HP:0410280	Pediatric onset	88	ACTN2	OMIM:612158
HP:0410280	Pediatric onset	653361	NCF1	OMIM:233700
HP:0410280	Pediatric onset	6444	SGCD	OMIM:606685
HP:0410280	Pediatric onset	10568	SLC34A2	OMIM:265100
HP:0410280	Pediatric onset	930	CD19	OMIM:613493
HP:0410280	Pediatric onset	3702	ITK	OMIM:613011
HP:0410280	Pediatric onset	2588	GALNS	OMIM:253000
HP:0410280	Pediatric onset	199221	DZIP1L	OMIM:617610
HP:0410280	Pediatric onset	5205	ATP8B1	OMIM:211600
HP:0410280	Pediatric onset	1890	TYMP	OMIM:603041
HP:0410280	Pediatric onset	7043	TGFB3	OMIM:107970
HP:0410280	Pediatric onset	1495	CTNNA1	OMIM:608970
HP:0410280	Pediatric onset	11235	PDCD10	OMIM:603285
HP:0410280	Pediatric onset	7507	XPA	OMIM:278700
HP:0410280	Pediatric onset	5468	PPARG	OMIM:604367
HP:0410280	Pediatric onset	3075	CFH	OMIM:609814
HP:0410280	Pediatric onset	51816	ADA2	OMIM:615688
HP:0410280	Pediatric onset	10319	LAMC3	OMIM:614115
HP:0410280	Pediatric onset	491	ATP2B2	OMIM:619804
HP:0410280	Pediatric onset	3661	IRF3	OMIM:616532
HP:0410280	Pediatric onset	1293	COL6A3	OMIM:616411
HP:0410280	Pediatric onset	51364	ZMYND10	OMIM:615444
HP:0410280	Pediatric onset	219285	SAMD9L	OMIM:619806
HP:0410280	Pediatric onset	5261	PHKG2	OMIM:613027
HP:0410280	Pediatric onset	5294	PIK3CG	OMIM:619802
HP:0410280	Pediatric onset	8292	COLQ	OMIM:603034
HP:0410280	Pediatric onset	9516	LITAF	OMIM:601098
HP:0410280	Pediatric onset	4131	MAP1B	OMIM:619808
HP:0410280	Pediatric onset	29929	ALG6	OMIM:603147
HP:0410280	Pediatric onset	3708	ITPR1	OMIM:606658
HP:0410280	Pediatric onset	3094	HINT1	OMIM:137200
HP:0410280	Pediatric onset	24	ABCA4	OMIM:604116
HP:0410280	Pediatric onset	3920	LAMP2	OMIM:300257
HP:0410280	Pediatric onset	6529	SLC6A1	OMIM:616421
HP:0410280	Pediatric onset	79934	COQ8B	OMIM:615573
HP:0410280	Pediatric onset	84823	LMNB2	OMIM:616540
HP:0410280	Pediatric onset	84823	LMNB2	OMIM:608709
HP:0410280	Pediatric onset	5538	PPT1	OMIM:256730
HP:0410280	Pediatric onset	8575	PRKRA	OMIM:612067
HP:0410280	Pediatric onset	3454	IFNAR1	OMIM:619935
HP:0410280	Pediatric onset	1203	CLN5	OMIM:256731
HP:0410280	Pediatric onset	55624	POMGNT1	OMIM:613157
HP:0410280	Pediatric onset	23250	ATP11A	OMIM:619810
HP:0410280	Pediatric onset	57728	WDR19	OMIM:616307
HP:0410280	Pediatric onset	57728	WDR19	OMIM:614377
HP:0410280	Pediatric onset	79784	MYH14	OMIM:614369
HP:0410280	Pediatric onset	23533	PIK3R5	OMIM:615217
HP:0410280	Pediatric onset	51422	PRKAG2	OMIM:194200
HP:0410280	Pediatric onset	8086	AAAS	OMIM:231550
HP:0410280	Pediatric onset	8139	GAN	OMIM:256850
HP:0410280	Pediatric onset	2639	GCDH	OMIM:231670
HP:0410280	Pediatric onset	6609	SMPD1	OMIM:607616
HP:0410280	Pediatric onset	846	CASR	OMIM:601198
HP:0410280	Pediatric onset	4093	SMAD9	OMIM:615342
HP:0410280	Pediatric onset	857	CAV1	OMIM:615343
HP:0410280	Pediatric onset	22978	NT5C2	OMIM:613162
HP:0410280	Pediatric onset	79587	CARS2	OMIM:616672
HP:0410280	Pediatric onset	7137	TNNI3	OMIM:613286
HP:0410280	Pediatric onset	4643	MYO1E	OMIM:614131
HP:0410280	Pediatric onset	10654	PMVK	OMIM:175800
HP:0410280	Pediatric onset	16	AARS1	OMIM:613287
HP:0410280	Pediatric onset	3777	KCNK3	OMIM:615344
HP:0410280	Pediatric onset	55367	PIDD1	OMIM:619827
HP:0410280	Pediatric onset	1297	COL9A1	OMIM:614135
HP:0410280	Pediatric onset	55753	OGDHL	OMIM:619701
HP:0410280	Pediatric onset	6786	STIM1	OMIM:160565
HP:0410280	Pediatric onset	285489	DOK7	OMIM:254300
HP:0410280	Pediatric onset	1145	CHRNE	OMIM:608931
HP:0410280	Pediatric onset	583	BBS2	OMIM:616562
HP:0410280	Pediatric onset	55240	STEAP3	OMIM:615234
HP:0410280	Pediatric onset	3767	KCNJ11	OMIM:616329
HP:0410280	Pediatric onset	3767	KCNJ11	OMIM:610582
HP:0410280	Pediatric onset	4141	MARS1	OMIM:615486
HP:0410280	Pediatric onset	5184	PEPD	OMIM:170100
HP:0410280	Pediatric onset	84936	ZFYVE19	OMIM:619849
HP:0410280	Pediatric onset	84520	GON7	OMIM:619603
HP:0410280	Pediatric onset	56259	CTNNBL1	OMIM:619846
HP:0410280	Pediatric onset	284403	WDR62	OMIM:604317
HP:0410280	Pediatric onset	2212	FCGR2A	OMIM:219700
HP:0410280	Pediatric onset	1080	CFTR	OMIM:219700
HP:0410280	Pediatric onset	54345	SOX18	OMIM:607823
HP:0410280	Pediatric onset	103	ADAR	OMIM:615010
HP:0410280	Pediatric onset	7343	UBTF	OMIM:617672
HP:0410280	Pediatric onset	84146	ZNF644	OMIM:614167
HP:0410280	Pediatric onset	3665	IRF7	OMIM:616345
HP:0410280	Pediatric onset	51109	RDH11	OMIM:616108
HP:0410280	Pediatric onset	79029	AFG2B	OMIM:619615
HP:0410280	Pediatric onset	3614	IMPDH1	OMIM:180105
HP:0410280	Pediatric onset	1594	CYP27B1	OMIM:264700
HP:0410280	Pediatric onset	23312	DMXL2	OMIM:616113
HP:0410280	Pediatric onset	57231	SNX14	OMIM:616354
HP:0410280	Pediatric onset	80739	MPIG6B	OMIM:617441
HP:0410280	Pediatric onset	23086	EXPH5	OMIM:615028
HP:0410280	Pediatric onset	3340	NDST1	OMIM:616116
HP:0410280	Pediatric onset	51702	PADI3	OMIM:191480
HP:0410280	Pediatric onset	6905	TBCE	OMIM:617207
HP:0410280	Pediatric onset	4645	MYO5B	OMIM:619868
HP:0410280	Pediatric onset	5373	PMM2	OMIM:212065
HP:0410280	Pediatric onset	11081	KERA	OMIM:217300
HP:0410280	Pediatric onset	5146	PDE6C	OMIM:613093
HP:0410280	Pediatric onset	9895	TECPR2	OMIM:615031
HP:0410280	Pediatric onset	3737	KCNA2	OMIM:616366
HP:0410280	Pediatric onset	3590	IL11RA	OMIM:614188
HP:0410280	Pediatric onset	5314	PKHD1	OMIM:263200
HP:0410280	Pediatric onset	23259	DDHD2	OMIM:615033
HP:0410280	Pediatric onset	2162	F13A1	OMIM:188050
HP:0410280	Pediatric onset	2147	F2	OMIM:188050
HP:0410280	Pediatric onset	3026	HABP2	OMIM:188050
HP:0410280	Pediatric onset	4524	MTHFR	OMIM:188050
HP:0410280	Pediatric onset	399	RHOH	OMIM:618307
HP:0410280	Pediatric onset	55280	CWF19L1	OMIM:616127
HP:0410280	Pediatric onset	3507	IGHM	OMIM:601495
HP:0410280	Pediatric onset	5605	MAP2K2	OMIM:615280
HP:0410280	Pediatric onset	144811	LACC1	OMIM:618795
HP:0410280	Pediatric onset	9276	COPB2	OMIM:619884
HP:0410280	Pediatric onset	1615	DARS1	OMIM:615281
HP:0410280	Pediatric onset	10991	SLC38A3	OMIM:619881
HP:0410280	Pediatric onset	3579	CXCR2	OMIM:619407
HP:0410280	Pediatric onset	10531	PITRM1	OMIM:619405
HP:0410280	Pediatric onset	487	ATP2A1	OMIM:601003
HP:0410280	Pediatric onset	55739	NAXD	OMIM:618321
HP:0410280	Pediatric onset	5966	REL	OMIM:619652
HP:0410280	Pediatric onset	326	AIRE	OMIM:240300
HP:0410280	Pediatric onset	197258	FCSK	OMIM:618324
HP:0410280	Pediatric onset	57679	ALS2	OMIM:205100
HP:0410280	Pediatric onset	57679	ALS2	OMIM:607225
HP:0410280	Pediatric onset	57679	ALS2	OMIM:606353
HP:0410280	Pediatric onset	345193	LRIT3	OMIM:615058
HP:0410280	Pediatric onset	2260	FGFR1	OMIM:166250
HP:0410280	Pediatric onset	84131	CEP78	OMIM:617236
HP:0410280	Pediatric onset	3339	HSPG2	OMIM:255800
HP:0410280	Pediatric onset	55151	TMEM38B	OMIM:615066
HP:0410280	Pediatric onset	10459	MAD2L2	OMIM:617243
HP:0410280	Pediatric onset	2583	B4GALNT1	OMIM:609195
HP:0410280	Pediatric onset	5813	PURA	OMIM:616158
HP:0410280	Pediatric onset	2074	ERCC6	OMIM:133540
HP:0410280	Pediatric onset	2074	ERCC6	OMIM:278800
HP:0410280	Pediatric onset	212	ALAS2	OMIM:300751
HP:0410280	Pediatric onset	212	ALAS2	OMIM:300752
HP:0410280	Pediatric onset	6448	SGSH	OMIM:252900
HP:0410280	Pediatric onset	2243	FGA	OMIM:202400
HP:0410280	Pediatric onset	2244	FGB	OMIM:202400
HP:0410280	Pediatric onset	2266	FGG	OMIM:202400
HP:0410280	Pediatric onset	7062	TCHH	OMIM:617252
HP:0410280	Pediatric onset	1778	DYNC1H1	OMIM:158600
HP:0410280	Pediatric onset	1441	CSF3R	OMIM:617014
HP:0410280	Pediatric onset	2187	FANCB	OMIM:300514
HP:0410280	Pediatric onset	54517	PUS7	OMIM:618342
HP:0410280	Pediatric onset	9842	PLEKHM1	OMIM:618107
HP:0410280	Pediatric onset	10397	NDRG1	OMIM:601455
HP:0410280	Pediatric onset	29887	SNX10	OMIM:615085
HP:0410280	Pediatric onset	81790	RNF170	OMIM:619686
HP:0410280	Pediatric onset	55182	RNF220	OMIM:619688
HP:0410280	Pediatric onset	518	ATP5MC3	OMIM:619681
HP:0410280	Pediatric onset	8492	PRSS12	OMIM:249500
HP:0410280	Pediatric onset	2784	GNB3	OMIM:617024
HP:0410280	Pediatric onset	331	XIAP	OMIM:308240
HP:0410280	Pediatric onset	4068	SH2D1A	OMIM:308240
HP:0410280	Pediatric onset	153642	ARSK	OMIM:619698
HP:0410280	Pediatric onset	537	ATP6AP1	OMIM:300972
HP:0410280	Pediatric onset	24140	FTSJ1	OMIM:309549
HP:0410280	Pediatric onset	7922	SLC39A7	OMIM:619693
HP:0410280	Pediatric onset	513	ATP5F1D	OMIM:618120
HP:0410280	Pediatric onset	64856	VWA1	OMIM:619216
HP:0410280	Pediatric onset	23418	CRB1	OMIM:600105
HP:0410280	Pediatric onset	23418	CRB1	OMIM:613835
HP:0410280	Pediatric onset	7401	CLRN1	OMIM:276902
HP:0410280	Pediatric onset	6390	SDHB	OMIM:619224
HP:0410280	Pediatric onset	55630	SLC39A4	OMIM:201100
HP:0410280	Pediatric onset	7174	TPP2	OMIM:619220
HP:0410280	Pediatric onset	146206	CARMIL2	OMIM:618131
HP:0410280	Pediatric onset	2992	GYG1	OMIM:616199
HP:0410280	Pediatric onset	2783	GNB2	OMIM:619464
HP:0410280	Pediatric onset	220296	HEPACAM	OMIM:613925
HP:0410280	Pediatric onset	65260	COA7	OMIM:618387
HP:0410280	Pediatric onset	55697	VAC14	OMIM:617054
HP:0410280	Pediatric onset	2155	F7	OMIM:227500
HP:0410280	Pediatric onset	134218	DNAJC21	OMIM:617052
HP:0410280	Pediatric onset	23316	CUX2	OMIM:618141
HP:0410280	Pediatric onset	4070	TACSTD2	OMIM:204870
HP:0410280	Pediatric onset	7204	TRIO	OMIM:617061
HP:0410280	Pediatric onset	2690	GHR	OMIM:262500
HP:0410280	Pediatric onset	2628	GATM	OMIM:134600
HP:0410280	Pediatric onset	2566	GABRG2	OMIM:618396
HP:0410280	Pediatric onset	2566	GABRG2	OMIM:607681
HP:0410280	Pediatric onset	643418	LIPN	OMIM:613943
HP:0410280	Pediatric onset	4773	NFATC2	OMIM:620232
HP:0410280	Pediatric onset	2799	GNS	OMIM:252940
HP:0410280	Pediatric onset	10551	AGR2	OMIM:620233
HP:0410280	Pediatric onset	203190	LGI3	OMIM:620007
HP:0410280	Pediatric onset	6010	RHO	OMIM:610445
HP:0410280	Pediatric onset	6010	RHO	OMIM:613731
HP:0410280	Pediatric onset	1073	CFL2	OMIM:610687
HP:0410280	Pediatric onset	60506	NYX	OMIM:310500
HP:0410280	Pediatric onset	875	CBS	OMIM:236200
HP:0410280	Pediatric onset	779	CACNA1S	OMIM:620246
HP:0410280	Pediatric onset	11277	TREX1	OMIM:610448
HP:0410280	Pediatric onset	10079	ATP9A	OMIM:620242
HP:0410280	Pediatric onset	124093	CCDC78	OMIM:614807
HP:0410280	Pediatric onset	6334	SCN8A	OMIM:617080
HP:0410280	Pediatric onset	6334	SCN8A	OMIM:614306
HP:0410280	Pediatric onset	54936	ADPRS	OMIM:618170
HP:0410280	Pediatric onset	50617	ATP6V0A4	OMIM:602722
HP:0410280	Pediatric onset	1893	ECM1	OMIM:247100
HP:0410280	Pediatric onset	118429	ANTXR2	OMIM:228600
HP:0410280	Pediatric onset	284361	EMC10	OMIM:619264
HP:0410280	Pediatric onset	25793	FBXO7	OMIM:260300
HP:0410280	Pediatric onset	83550	GPR101	OMIM:300942
HP:0410280	Pediatric onset	4689	NCF4	OMIM:613960
HP:0410280	Pediatric onset	6326	SCN2A	OMIM:613721
HP:0410280	Pediatric onset	5339	PLEC	OMIM:613723
HP:0410280	Pediatric onset	5339	PLEC	OMIM:616487
HP:0410280	Pediatric onset	5696	PSMB8	OMIM:256040
HP:0410280	Pediatric onset	6235	RPS29	OMIM:615909
HP:0410280	Pediatric onset	7424	VEGFC	OMIM:615907
HP:0410280	Pediatric onset	4693	NDP	OMIM:305390
HP:0410280	Pediatric onset	64374	SIL1	OMIM:248800
HP:0410280	Pediatric onset	2643	GCH1	OMIM:128230
HP:0410280	Pediatric onset	26960	NBEA	OMIM:619157
HP:0410280	Pediatric onset	79083	MLPH	OMIM:609227
HP:0410280	Pediatric onset	51343	FZR1	OMIM:620145
HP:0410280	Pediatric onset	5660	PSAP	OMIM:249900
HP:0410280	Pediatric onset	23149	FCHO1	OMIM:619164
HP:0410280	Pediatric onset	10461	MERTK	OMIM:613862
HP:0410280	Pediatric onset	80055	PGAP1	OMIM:615802
HP:0410280	Pediatric onset	25778	DSTYK	OMIM:270750
HP:0410280	Pediatric onset	4718	NDUFC2	OMIM:619170
HP:0410280	Pediatric onset	2483	FRG1	OMIM:158900
HP:0410280	Pediatric onset	64324	NSD1	OMIM:117550
HP:0410280	Pediatric onset	146862	UNC45B	OMIM:619178
HP:0410280	Pediatric onset	3952	LEP	OMIM:614962
HP:0410280	Pediatric onset	2538	G6PC1	OMIM:232200
HP:0410280	Pediatric onset	6794	STK11	OMIM:175200
HP:0410280	Pediatric onset	1509	CTSD	OMIM:610127
HP:0410280	Pediatric onset	9570	GOSR2	OMIM:620166
HP:0410280	Pediatric onset	9570	GOSR2	OMIM:614018
HP:0410280	Pediatric onset	80326	WNT10A	OMIM:257980
HP:0410280	Pediatric onset	10555	AGPAT2	OMIM:608594
HP:0410280	Pediatric onset	5313	PKLR	OMIM:266200
HP:0410280	Pediatric onset	1678	TIMM8A	OMIM:304700
HP:0410280	Pediatric onset	80856	LNPK	OMIM:618090
HP:0410280	Pediatric onset	7374	UNG	OMIM:608106
HP:0410280	Pediatric onset	633	BGN	OMIM:300106
HP:0410280	Pediatric onset	11160	ERLIN2	OMIM:611225
HP:0410280	Pediatric onset	25942	SIN3A	OMIM:613406
HP:0410280	Pediatric onset	57465	TBC1D24	OMIM:608105
HP:0410280	Pediatric onset	3425	IDUA	OMIM:607015
HP:0410280	Pediatric onset	54332	GDAP1	OMIM:608340
HP:0410280	Pediatric onset	54332	GDAP1	OMIM:607706
HP:0410280	Pediatric onset	4952	OCRL	OMIM:300555
HP:0410280	Pediatric onset	3035	HARS1	OMIM:614504
HP:0410280	Pediatric onset	5888	RAD51	OMIM:614508
HP:0410280	Pediatric onset	643226	GRXCR2	OMIM:615837
HP:0410280	Pediatric onset	4784	NFIX	OMIM:614753
HP:0410280	Pediatric onset	1798	DPAGT1	OMIM:614750
HP:0410280	Pediatric onset	182	JAG1	OMIM:118450
HP:0410280	Pediatric onset	182	JAG1	OMIM:619574
HP:0410280	Pediatric onset	84946	LTV1	OMIM:620199
HP:0410280	Pediatric onset	85452	CFAP74	OMIM:620197
HP:0410280	Pediatric onset	8242	KDM5C	OMIM:300534
HP:0410280	Pediatric onset	1374	CPT1A	OMIM:255120
HP:0410280	Pediatric onset	64802	NMNAT1	OMIM:608553
HP:0410280	Pediatric onset	4942	OAT	OMIM:258870
HP:0410280	Pediatric onset	23093	TTLL5	OMIM:615860
HP:0410280	Pediatric onset	1376	CPT2	OMIM:255110
HP:0410280	Pediatric onset	144245	ALG10B	OMIM:613688
HP:0410280	Pediatric onset	3757	KCNH2	OMIM:613688
HP:0410280	Pediatric onset	6664	SOX11	OMIM:615866
HP:0410280	Pediatric onset	4204	MECP2	OMIM:312750
HP:0410280	Pediatric onset	4204	MECP2	OMIM:300496
HP:0410280	Pediatric onset	57410	SCYL1	OMIM:616719
HP:0410280	Pediatric onset	339453	TMEM240	OMIM:607454
HP:0410280	Pediatric onset	4976	OPA1	OMIM:210000
HP:0410280	Pediatric onset	4976	OPA1	OMIM:125250
HP:0410280	Pediatric onset	4054	LTBP3	OMIM:617809
HP:0410280	Pediatric onset	348980	HCN1	OMIM:615871
HP:0410280	Pediatric onset	80184	CEP290	OMIM:610189
HP:0410280	Pediatric onset	406960	MIR184	OMIM:614303
HP:0410280	Pediatric onset	4487	MSX1	OMIM:106600
HP:0410280	Pediatric onset	546	ATRX	OMIM:301040
HP:0410280	Pediatric onset	57379	AICDA	OMIM:605258
HP:0410280	Pediatric onset	80347	COASY	OMIM:615643
HP:0410280	Pediatric onset	123016	TTC8	OMIM:613464
HP:0410280	Pediatric onset	10058	ABCB6	OMIM:615402
HP:0410280	Pediatric onset	84816	RTN4IP1	OMIM:616732
HP:0410280	Pediatric onset	3861	KRT14	OMIM:131800
HP:0410280	Pediatric onset	3861	KRT14	OMIM:131760
HP:0410280	Pediatric onset	123041	SLC24A4	OMIM:615887
HP:0410280	Pediatric onset	10235	RASGRP2	OMIM:615888
HP:0410280	Pediatric onset	90161	HS6ST2	OMIM:301025
HP:0410280	Pediatric onset	4694	NDUFA1	OMIM:301020
HP:0410280	Pediatric onset	25953	PNKD	OMIM:118800
HP:0410280	Pediatric onset	23732	FRRS1L	OMIM:616981
HP:0410280	Pediatric onset	5631	PRPS1	OMIM:311070
HP:0410280	Pediatric onset	116150	NUS1	OMIM:617831
HP:0410280	Pediatric onset	545	ATR	OMIM:614564
HP:0410280	Pediatric onset	10342	TFG	OMIM:615658
HP:0410280	Pediatric onset	6678	SPARC	OMIM:616507
HP:0410280	Pediatric onset	6638	SNRPN	OMIM:209850
HP:0410280	Pediatric onset	56479	KCNQ5	OMIM:617601
HP:0410280	Pediatric onset	3848	KRT1	OMIM:607654
HP:0410280	Pediatric onset	8270	LAGE3	OMIM:301006
HP:0410280	Pediatric onset	931	MS4A1	OMIM:613495
HP:0410280	Pediatric onset	131669	UROC1	OMIM:276880
HP:0410280	Pediatric onset	3514	IGKC	OMIM:614102
HP:0410280	Pediatric onset	80781	COL18A1	OMIM:267750
HP:0410280	Pediatric onset	122553	TRAPPC6B	OMIM:617862
HP:0410280	Pediatric onset	23204	ARL6IP1	OMIM:615685
HP:0410280	Pediatric onset	50615	IL21R	OMIM:615207
HP:0410280	Pediatric onset	2259	FGF14	OMIM:193003
HP:0410280	Pediatric onset	9371	KIF3B	OMIM:618955
HP:0410280	Pediatric onset	10577	NPC2	OMIM:607625
HP:0410280	Pediatric onset	5422	POLA1	OMIM:301220
HP:0410280	Pediatric onset	7991	TUSC3	OMIM:611093
HP:0410280	Pediatric onset	51081	MRPS7	OMIM:617872
HP:0410280	Pediatric onset	112752	IFT43	OMIM:617871
HP:0410280	Pediatric onset	10383	TUBB4B	OMIM:617879
HP:0410280	Pediatric onset	81570	CLPB	OMIM:619813
HP:0410280	Pediatric onset	84059	ADGRV1	OMIM:604352
HP:0410280	Pediatric onset	2182	ACSL4	OMIM:300387
HP:0410280	Pediatric onset	672	BRCA1	OMIM:617883
HP:0410280	Pediatric onset	83452	RAB33B	OMIM:615222
HP:0410280	Pediatric onset	22861	NLRP1	OMIM:615225
HP:0410280	Pediatric onset	22948	CCT5	OMIM:256840
HP:0410280	Pediatric onset	51763	INPP5K	OMIM:617404
HP:0410280	Pediatric onset	109	ADCY3	OMIM:617885
HP:0410280	Pediatric onset	6929	TCF3	OMIM:619824
HP:0410280	Pediatric onset	64699	TMPRSS3	OMIM:601072
HP:0410280	Pediatric onset	4099	MAG	OMIM:616680
HP:0410280	Pediatric onset	29925	GMPPB	OMIM:615350
HP:0410280	Pediatric onset	29925	GMPPB	OMIM:615352
HP:0410280	Pediatric onset	8029	CUBN	OMIM:261100
HP:0410280	Pediatric onset	3783	KCNN4	OMIM:616689
HP:0410280	Pediatric onset	84818	IL17RC	OMIM:616445
HP:0410280	Pediatric onset	7415	VCP	OMIM:616687
HP:0410280	Pediatric onset	60684	TRAPPC11	OMIM:615356
HP:0410280	Pediatric onset	400916	CHCHD10	OMIM:616209
HP:0410280	Pediatric onset	5361	PLXNA1	OMIM:619955
HP:0410280	Pediatric onset	7552	ZNF711	OMIM:300803
HP:0410280	Pediatric onset	8842	PROM1	OMIM:612095
HP:0410280	Pediatric onset	375790	AGRN	OMIM:615120
HP:0410280	Pediatric onset	25959	KANK2	OMIM:617783
HP:0410280	Pediatric onset	7273	TTN	OMIM:608807
HP:0410280	Pediatric onset	790	CAD	OMIM:616457
HP:0410280	Pediatric onset	1106	CHD2	OMIM:615369
HP:0410280	Pediatric onset	472	ATM	OMIM:208900
HP:0410280	Pediatric onset	57156	TMEM63C	OMIM:619966
HP:0410280	Pediatric onset	120227	CYP2R1	OMIM:600081
HP:0410280	Pediatric onset	80153	EDC3	OMIM:616460
HP:0410280	Pediatric onset	1298	COL9A2	OMIM:614284
HP:0410280	Pediatric onset	1298	COL9A2	OMIM:600204
HP:0410280	Pediatric onset	56172	ANKH	OMIM:123000
HP:0410280	Pediatric onset	85365	ALG2	OMIM:616228
HP:0410280	Pediatric onset	85365	ALG2	OMIM:607906
HP:0410280	Pediatric onset	4323	MMP14	OMIM:277950
HP:0410280	Pediatric onset	84504	NKX6-2	OMIM:617560
HP:0410280	Pediatric onset	55214	P3H2	OMIM:614292
HP:0410280	Pediatric onset	2744	GLS	OMIM:618412
HP:0410280	Pediatric onset	5442	POLRMT	OMIM:619743
HP:0410280	Pediatric onset	28755	TRAC	OMIM:615387
HP:0410280	Pediatric onset	5950	RBP4	OMIM:615147
HP:0410280	Pediatric onset	10861	SLC26A1	OMIM:167030
HP:0410280	Pediatric onset	339983	NAT8L	OMIM:614063
HP:0410280	Pediatric onset	85301	COL27A1	OMIM:615155
HP:0410280	Pediatric onset	6023	RMRP	OMIM:250250
HP:0410280	Pediatric onset	6023	RMRP	OMIM:250460
HP:0410280	Pediatric onset	57863	CADM3	OMIM:619519
HP:0410280	Pediatric onset	59335	PRDM12	OMIM:616488
HP:0410280	Pediatric onset	25981	DNAH1	OMIM:617577
HP:0410280	Pediatric onset	54440	SASH3	OMIM:301082
HP:0410280	Pediatric onset	8676	STX11	OMIM:603552
HP:0410280	Pediatric onset	9533	POLR1C	OMIM:616494
HP:0410280	Pediatric onset	10516	FBLN5	OMIM:619764
HP:0410280	Pediatric onset	10516	FBLN5	OMIM:608895
HP:0410280	Pediatric onset	84062	DTNBP1	OMIM:614076
HP:0410280	Pediatric onset	2258	FGF13	OMIM:301095
HP:0410280	Pediatric onset	23162	MAPK8IP3	OMIM:618443
HP:0410280	Pediatric onset	3978	LIG1	OMIM:619774
HP:0410280	Pediatric onset	9319	TRIP13	OMIM:617598
HP:0410280	Pediatric onset	3551	IKBKB	OMIM:618204
HP:0410280	Pediatric onset	148789	B3GALNT2	OMIM:615181
HP:0410280	Pediatric onset	2742	GLRA2	OMIM:301076
HP:0410280	Pediatric onset	27247	NFU1	OMIM:605711
HP:0410280	Pediatric onset	8295	TRRAP	OMIM:618454
HP:0410280	Pediatric onset	84695	LOXL3	OMIM:619781
HP:0410280	Pediatric onset	1337	COX6A1	OMIM:616039
HP:0410280	Pediatric onset	29127	RACGAP1	OMIM:619789
HP:0410280	Pediatric onset	8905	AP1S2	OMIM:304340
HP:0410280	Pediatric onset	10456	HAX1	OMIM:610738
HP:0410280	Pediatric onset	23111	SPART	OMIM:275900
HP:0410280	Pediatric onset	2235	FECH	OMIM:177000
HP:0410280	Pediatric onset	79879	CCDC134	OMIM:619795
HP:0410280	Pediatric onset	53405	CLIC5	OMIM:616042
HP:0410280	Pediatric onset	9759	HDAC4	OMIM:619797
HP:0410280	Pediatric onset	127833	SYT2	OMIM:616040
HP:0410280	Pediatric onset	9785	DHX38	OMIM:618220
HP:0410280	Pediatric onset	203547	VMA21	OMIM:310440
HP:0410280	Pediatric onset	6548	SLC9A1	OMIM:616291
HP:0410280	Pediatric onset	91942	NDUFAF2	OMIM:618233
HP:0410280	Pediatric onset	23102	TBC1D2B	OMIM:619323
HP:0410280	Pediatric onset	729920	CRPPA	OMIM:616052
HP:0410280	Pediatric onset	3745	KCNB1	OMIM:616056
HP:0410280	Pediatric onset	362	AQP5	OMIM:600231
HP:0410280	Pediatric onset	25929	GEMIN5	OMIM:619333
HP:0410280	Pediatric onset	23221	RHOBTB2	OMIM:618004
HP:0410280	Pediatric onset	9131	AIFM1	OMIM:300614
HP:0410280	Pediatric onset	9131	AIFM1	OMIM:300232
HP:0410280	Pediatric onset	80224	NUBPL	OMIM:618242
HP:0410280	Pediatric onset	165	AEBP1	OMIM:618000
HP:0410280	Pediatric onset	23229	ARHGEF9	OMIM:300607
HP:0410280	Pediatric onset	7490	WT1	OMIM:256370
HP:0410280	Pediatric onset	444	ASPH	OMIM:601552
HP:0410280	Pediatric onset	80324	PUS1	OMIM:600462
HP:0410280	Pediatric onset	774	CACNA1B	OMIM:618497
HP:0410280	Pediatric onset	55814	BDP1	OMIM:618257
HP:0410280	Pediatric onset	10297	APC2	OMIM:617169
HP:0410280	Pediatric onset	4700	NDUFA6	OMIM:618253
HP:0410280	Pediatric onset	2332	FMR1	OMIM:300624
HP:0410280	Pediatric onset	523	ATP6V1A	OMIM:618012
HP:0410280	Pediatric onset	390594	KBTBD13	OMIM:609273
HP:0410280	Pediatric onset	2706	GJB2	OMIM:124500
HP:0410280	Pediatric onset	1200	TPP1	OMIM:609270
HP:0410280	Pediatric onset	25939	SAMHD1	OMIM:612952
HP:0410280	Pediatric onset	25939	SAMHD1	OMIM:614415
HP:0410280	Pediatric onset	5158	PDE6B	OMIM:613801
HP:0410280	Pediatric onset	145226	RDH12	OMIM:612712
HP:0410280	Pediatric onset	412	STS	OMIM:308100
HP:0410280	Pediatric onset	28982	FLVCR1	OMIM:609033
HP:0410280	Pediatric onset	1300	COL10A1	OMIM:156500
HP:0410280	Pediatric onset	1277	COL1A1	OMIM:619115
HP:0410280	Pediatric onset	51095	TRNT1	OMIM:616084
HP:0410280	Pediatric onset	35	ACADS	OMIM:201470
HP:0410280	Pediatric onset	84839	RAX2	OMIM:620102
HP:0410280	Pediatric onset	7168	TPM1	OMIM:611878
HP:0410280	Pediatric onset	2312	FLG	OMIM:146700
HP:0410280	Pediatric onset	1605	DAG1	OMIM:613818
HP:0410280	Pediatric onset	3000	GUCY2D	OMIM:601777
HP:0410280	Pediatric onset	2916	GRM6	OMIM:257270
HP:0410280	Pediatric onset	128240	NAXE	OMIM:617186
HP:0410280	Pediatric onset	10651	MTX2	OMIM:619127
HP:0410280	Pediatric onset	1278	COL1A2	OMIM:619120
HP:0410280	Pediatric onset	23287	AGTPBP1	OMIM:618276
HP:0410280	Pediatric onset	8701	DNAH11	OMIM:611884
HP:0410280	Pediatric onset	23031	MAST3	OMIM:620115
HP:0410280	Pediatric onset	8911	CACNA1I	OMIM:620114
HP:0410280	Pediatric onset	3710	ITPR3	OMIM:620111
HP:0410280	Pediatric onset	11014	KDELR2	OMIM:619131
HP:0410280	Pediatric onset	383	ARG1	OMIM:207800
HP:0410280	Pediatric onset	9187	SLC24A1	OMIM:613830
HP:0410280	Pediatric onset	57538	ALPK3	OMIM:618052
HP:0410280	Pediatric onset	5257	PHKB	OMIM:261750
HP:0410280	Pediatric onset	27072	VPS41	OMIM:619389
HP:0410280	Pediatric onset	7388	UQCRH	OMIM:620137
HP:0410280	Pediatric onset	23345	SYNE1	OMIM:612998
HP:0410280	Pediatric onset	87178	PNPT1	OMIM:614934
HP:0410280	Pediatric onset	50640	PNPLA8	OMIM:251950
HP:0410280	Pediatric onset	6584	SLC22A5	OMIM:212140
HP:0410280	Pediatric onset	1534	CYB561	OMIM:618182
HP:0410280	Pediatric onset	2077	ERF	OMIM:600775
HP:0410280	Pediatric onset	79717	PPCS	OMIM:618189
HP:0410280	Pediatric onset	3852	KRT5	OMIM:131760
HP:0410280	Pediatric onset	3852	KRT5	OMIM:131960
HP:0410280	Pediatric onset	7109	TRAPPC10	OMIM:620027
HP:0410280	Pediatric onset	1119	CHKA	OMIM:620023
HP:0410280	Pediatric onset	3291	HSD11B2	OMIM:218030
HP:0410280	Pediatric onset	54809	SAMD9	OMIM:619041
HP:0410280	Pediatric onset	49855	SCAPER	OMIM:618195
HP:0410280	Pediatric onset	221421	RSPH9	OMIM:612650
HP:0410280	Pediatric onset	121391	KRT74	OMIM:613981
HP:0410280	Pediatric onset	23431	AP4E1	OMIM:613744
HP:0410280	Pediatric onset	23431	AP4E1	OMIM:184450
HP:0410280	Pediatric onset	51324	SPG21	OMIM:248900
HP:0410280	Pediatric onset	1137	CHRNA4	OMIM:600513
HP:0410280	Pediatric onset	9739	SETD1A	OMIM:619056
HP:0410280	Pediatric onset	7084	TK2	OMIM:609560
HP:0410280	Pediatric onset	340024	SLC6A19	OMIM:234500
HP:0410280	Pediatric onset	686	BTD	OMIM:253260
HP:0410280	Pediatric onset	3911	LAMA5	OMIM:620049
HP:0410280	Pediatric onset	6575	SLC20A2	OMIM:213600
HP:0410280	Pediatric onset	36	ACADSB	OMIM:610006
HP:0410280	Pediatric onset	7187	TRAF3	OMIM:614849
HP:0410280	Pediatric onset	84334	COA8	OMIM:619061
HP:0410280	Pediatric onset	55325	UFSP2	OMIM:142669
HP:0410280	Pediatric onset	148022	TICAM1	OMIM:614850
HP:0410280	Pediatric onset	2301	FOXE3	OMIM:610256
HP:0410280	Pediatric onset	338328	GPIHBP1	OMIM:615947
HP:0410280	Pediatric onset	121512	FGD4	OMIM:609311
HP:0410280	Pediatric onset	2629	GBA1	OMIM:231000
HP:0410280	Pediatric onset	23265	EXOC7	OMIM:619072
HP:0410280	Pediatric onset	1576	CYP3A4	OMIM:619073
HP:0410280	Pediatric onset	10585	POMT1	OMIM:609308
HP:0410280	Pediatric onset	1267	CNP	OMIM:619071
HP:0410280	Pediatric onset	83394	PITPNM3	OMIM:600977
HP:0410280	Pediatric onset	65109	UPF3B	OMIM:300676
HP:0410280	Pediatric onset	5828	PEX2	OMIM:614866
HP:0410280	Pediatric onset	1282	COL4A1	OMIM:175780
HP:0410280	Pediatric onset	171019	ADAMTS19	OMIM:620067
HP:0410280	Pediatric onset	9990	SLC12A6	OMIM:620068
HP:0410280	Pediatric onset	64837	KLC2	OMIM:609541
HP:0410280	Pediatric onset	9409	PEX16	OMIM:614877
HP:0410280	Pediatric onset	57709	SLC7A14	OMIM:615725
HP:0410280	Pediatric onset	6231	RPS26	OMIM:613309
HP:0410280	Pediatric onset	54862	CC2D1A	OMIM:608443
HP:0410280	Pediatric onset	29851	ICOS	OMIM:607594
HP:0410280	Pediatric onset	11152	WDR45	OMIM:300894
HP:0410280	Pediatric onset	11117	EMILIN1	OMIM:620080
HP:0410280	Pediatric onset	5122	PCSK1	OMIM:600955
HP:0410280	Pediatric onset	50484	RRM2B	OMIM:268315
HP:0410280	Pediatric onset	9147	NEMF	OMIM:619099
HP:0410280	Pediatric onset	282809	POC1B	OMIM:615973
HP:0410280	Pediatric onset	6121	RPE65	OMIM:613794
HP:0410280	Pediatric onset	5194	PEX13	OMIM:614885
HP:0410280	Pediatric onset	9928	KIF14	OMIM:617914
HP:0410280	Pediatric onset	2688	GH1	OMIM:173100
HP:0410280	Pediatric onset	1384	CRAT	OMIM:617917
HP:0410280	Pediatric onset	55679	LIMS2	OMIM:616827
HP:0410280	Pediatric onset	3954	LETM1	OMIM:620089
HP:0410280	Pediatric onset	710	SERPING1	OMIM:106100
HP:0410280	Pediatric onset	23636	NUP62	OMIM:271930
HP:0410280	Pediatric onset	54413	NLGN3	OMIM:300425
HP:0410280	Pediatric onset	93183	PIGM	OMIM:610293
HP:0410280	Pediatric onset	2581	GALC	OMIM:245200
HP:0410280	Pediatric onset	57716	PRX	OMIM:614895
HP:0410280	Pediatric onset	23590	PDSS1	OMIM:614651
HP:0410280	Pediatric onset	3394	IRF8	OMIM:614893
HP:0410280	Pediatric onset	6307	MSMO1	OMIM:616834
HP:0410280	Pediatric onset	1261	CNGA3	OMIM:216900
HP:0410280	Pediatric onset	137492	VPS37A	OMIM:614898
HP:0410280	Pediatric onset	8729	GBF1	OMIM:606483
HP:0410280	Pediatric onset	54808	DYM	OMIM:607326
HP:0410280	Pediatric onset	147495	APCDD1	OMIM:605389
HP:0410280	Pediatric onset	7080	NKX2-1	OMIM:118700
HP:0410280	Pediatric onset	2982	GUCY1A1	OMIM:615750
HP:0410280	Pediatric onset	763	CA5A	OMIM:615751
HP:0410280	Pediatric onset	6328	SCN3A	OMIM:617935
HP:0410280	Pediatric onset	6328	SCN3A	OMIM:617938
HP:0410280	Pediatric onset	3932	LCK	OMIM:615758
HP:0410280	Pediatric onset	8626	TP63	OMIM:604292
HP:0410280	Pediatric onset	411	ARSB	OMIM:253200
HP:0410280	Pediatric onset	55187	VPS13D	OMIM:607317
HP:0410280	Pediatric onset	57526	PCDH19	OMIM:300088
HP:0410280	Pediatric onset	5148	PDE6G	OMIM:613582
HP:0410280	Pediatric onset	6813	STXBP2	OMIM:613101
HP:0410280	Pediatric onset	79631	EFL1	OMIM:617941
HP:0410280	Pediatric onset	56997	COQ8A	OMIM:612016
HP:0410280	Pediatric onset	4297	KMT2A	OMIM:605130
HP:0410280	Pediatric onset	4763	NF1	OMIM:162200
HP:0410280	Pediatric onset	8671	SLC4A4	OMIM:604278
HP:0410280	Pediatric onset	79572	ATP13A3	OMIM:265400
HP:0410280	Pediatric onset	9512	PMPCB	OMIM:617954
HP:0410280	Pediatric onset	5530	PPP3CA	OMIM:617711
HP:0410280	Pediatric onset	6097	RORC	OMIM:616622
HP:0410280	Pediatric onset	1292	COL6A2	OMIM:255600
HP:0410280	Pediatric onset	23676	SMPX	OMIM:300066
HP:0410280	Pediatric onset	163183	SYNE4	OMIM:615540
HP:0410280	Pediatric onset	175	AGA	OMIM:208400
HP:0410280	Pediatric onset	6773	STAT2	OMIM:616636
HP:0410280	Pediatric onset	27010	TPK1	OMIM:614458
HP:0410280	Pediatric onset	93986	FOXP2	OMIM:602081
HP:0410280	Pediatric onset	7074	TIAM1	OMIM:619908
HP:0410280	Pediatric onset	51002	TPRKB	OMIM:617731
HP:0410280	Pediatric onset	255928	SYT14	OMIM:614229
HP:0410280	Pediatric onset	490	ATP2B1	OMIM:619910
HP:0410280	Pediatric onset	5336	PLCG2	OMIM:614468
HP:0410280	Pediatric onset	4929	NR4A2	OMIM:619911
HP:0410280	Pediatric onset	128178	EDARADD	OMIM:224900
HP:0410280	Pediatric onset	10913	EDAR	OMIM:224900
HP:0410280	Pediatric onset	629	CFB	OMIM:615561
HP:0410280	Pediatric onset	1314	COPA	OMIM:616414
HP:0410280	Pediatric onset	6569	SLC34A1	OMIM:613388
HP:0410280	Pediatric onset	54676	GTPBP2	OMIM:617988
HP:0410280	Pediatric onset	57502	NLGN4X	OMIM:300495
HP:0410280	Pediatric onset	5879	RAC1	OMIM:617751
HP:0410280	Pediatric onset	3889	KRT83	OMIM:617756
HP:0410280	Pediatric onset	4791	NFKB2	OMIM:615577
HP:0410280	Pediatric onset	29954	POMT2	OMIM:613158
HP:0410280	Pediatric onset	8815	BANF1	OMIM:614008
HP:0410280	Pediatric onset	5718	PSMD12	OMIM:617516
HP:0410280	Pediatric onset	7508	XPC	OMIM:278720
HP:0410280	Pediatric onset	6223	RPS19	OMIM:105650
HP:0410280	Pediatric onset	6103	RPGR	OMIM:300029
HP:0410280	Pediatric onset	51776	MAP3K20	OMIM:617760
HP:0410280	Pediatric onset	10369	CACNG2	OMIM:614256
HP:0410280	Pediatric onset	2582	GALE	OMIM:230350
HP:0410280	Pediatric onset	83959	SLC4A11	OMIM:217400
HP:0410281	Dyspepsia	1288	COL4A6	ORPHA:1018
HP:0410281	Dyspepsia	1287	COL4A5	ORPHA:1018
HP:0410282	Abnormal circulating amylase concentration	8671	SLC4A4	OMIM:604278
HP:0410282	Abnormal circulating amylase concentration	9054	NFS1	OMIM:619386
HP:0410282	Abnormal circulating amylase concentration	23019	CNOT1	ORPHA:556955
HP:0410282	Abnormal circulating amylase concentration	134218	DNAJC21	ORPHA:811
HP:0410282	Abnormal circulating amylase concentration	79631	EFL1	ORPHA:811
HP:0410282	Abnormal circulating amylase concentration	51119	SBDS	ORPHA:811
HP:0410282	Abnormal circulating amylase concentration	6729	SRP54	ORPHA:811
HP:0410288	Hyperamylasemia	8671	SLC4A4	OMIM:604278
HP:0410288	Hyperamylasemia	9054	NFS1	OMIM:619386
HP:0410289	Hypoamylasemia	23019	CNOT1	ORPHA:556955
HP:0410289	Hypoamylasemia	134218	DNAJC21	ORPHA:811
HP:0410289	Hypoamylasemia	79631	EFL1	ORPHA:811
HP:0410289	Hypoamylasemia	51119	SBDS	ORPHA:811
HP:0410289	Hypoamylasemia	6729	SRP54	ORPHA:811
HP:0000811	Abnormal external genitalia	23394	ADNP	ORPHA:404448
HP:0000811	Abnormal external genitalia	23394	ADNP	OMIM:615873
HP:0000811	Abnormal external genitalia	8216	LZTR1	OMIM:616564
HP:0000811	Abnormal external genitalia	8216	LZTR1	OMIM:605275
HP:0000811	Abnormal external genitalia	8216	LZTR1	ORPHA:648
HP:0000811	Abnormal external genitalia	23135	KDM6B	OMIM:618505
HP:0000811	Abnormal external genitalia	1024	CDK8	OMIM:618748
HP:0000811	Abnormal external genitalia	1788	DNMT3A	ORPHA:404443
HP:0000811	Abnormal external genitalia	80816	ASXL3	OMIM:615485
HP:0000811	Abnormal external genitalia	55690	PACS1	OMIM:615009
HP:0000811	Abnormal external genitalia	55690	PACS1	ORPHA:329224
HP:0000811	Abnormal external genitalia	55904	KMT2E	OMIM:618512
HP:0000811	Abnormal external genitalia	2192	FBLN1	ORPHA:404451
HP:0000811	Abnormal external genitalia	284403	WDR62	OMIM:604317
HP:0000811	Abnormal external genitalia	3190	HNRNPK	OMIM:616580
HP:0000811	Abnormal external genitalia	3190	HNRNPK	ORPHA:453504
HP:0000811	Abnormal external genitalia	3190	HNRNPK	ORPHA:352665
HP:0000811	Abnormal external genitalia	54453	RIN2	OMIM:613075
HP:0000811	Abnormal external genitalia	54453	RIN2	ORPHA:217335
HP:0000811	Abnormal external genitalia	113189	CHST14	ORPHA:2953
HP:0000811	Abnormal external genitalia	113189	CHST14	OMIM:601776
HP:0000811	Abnormal external genitalia	29940	DSE	ORPHA:2953
HP:0000811	Abnormal external genitalia	55681	SCYL2	OMIM:618766
HP:0000811	Abnormal external genitalia	10484	SEC23A	OMIM:607812
HP:0000811	Abnormal external genitalia	23327	NEDD4L	OMIM:617201
HP:0000811	Abnormal external genitalia	8036	SHOC2	ORPHA:2701
HP:0000811	Abnormal external genitalia	8036	SHOC2	OMIM:607721
HP:0000811	Abnormal external genitalia	5500	PPP1CB	ORPHA:2701
HP:0000811	Abnormal external genitalia	5500	PPP1CB	OMIM:617506
HP:0000811	Abnormal external genitalia	9860	LRIG2	ORPHA:2704
HP:0000811	Abnormal external genitalia	60495	HPSE2	ORPHA:2704
HP:0000811	Abnormal external genitalia	60495	HPSE2	OMIM:236730
HP:0000811	Abnormal external genitalia	51633	OTUD6B	OMIM:617452
HP:0000811	Abnormal external genitalia	51633	OTUD6B	ORPHA:505237
HP:0000811	Abnormal external genitalia	641	BLM	OMIM:210900
HP:0000811	Abnormal external genitalia	57688	ZSWIM6	OMIM:603671
HP:0000811	Abnormal external genitalia	57688	ZSWIM6	ORPHA:1827
HP:0000811	Abnormal external genitalia	8643	PTCH2	ORPHA:377
HP:0000811	Abnormal external genitalia	23483	TGDS	OMIM:616145
HP:0000811	Abnormal external genitalia	5081	PAX7	OMIM:618578
HP:0000811	Abnormal external genitalia	2261	FGFR3	ORPHA:794
HP:0000811	Abnormal external genitalia	2261	FGFR3	ORPHA:2363
HP:0000811	Abnormal external genitalia	9361	LONP1	OMIM:600373
HP:0000811	Abnormal external genitalia	1798	DPAGT1	OMIM:608093
HP:0000811	Abnormal external genitalia	2972	BRF1	ORPHA:444072
HP:0000811	Abnormal external genitalia	2972	BRF1	OMIM:616202
HP:0000811	Abnormal external genitalia	4952	OCRL	ORPHA:534
HP:0000811	Abnormal external genitalia	4952	OCRL	OMIM:309000
HP:0000811	Abnormal external genitalia	84340	GFM2	ORPHA:565624
HP:0000811	Abnormal external genitalia	4927	NUP88	ORPHA:994
HP:0000811	Abnormal external genitalia	4927	NUP88	OMIM:618393
HP:0000811	Abnormal external genitalia	7846	TUBA1A	ORPHA:994
HP:0000811	Abnormal external genitalia	4654	MYOD1	ORPHA:994
HP:0000811	Abnormal external genitalia	4593	MUSK	ORPHA:994
HP:0000811	Abnormal external genitalia	4593	MUSK	OMIM:208150
HP:0000811	Abnormal external genitalia	5913	RAPSN	ORPHA:994
HP:0000811	Abnormal external genitalia	5913	RAPSN	OMIM:618388
HP:0000811	Abnormal external genitalia	6572	SLC18A3	ORPHA:994
HP:0000811	Abnormal external genitalia	285489	DOK7	ORPHA:994
HP:0000811	Abnormal external genitalia	134218	DNAJC21	OMIM:617052
HP:0000811	Abnormal external genitalia	94005	PIGS	OMIM:618143
HP:0000811	Abnormal external genitalia	2317	FLNB	ORPHA:503
HP:0000811	Abnormal external genitalia	2317	FLNB	ORPHA:1263
HP:0000811	Abnormal external genitalia	2317	FLNB	OMIM:108720
HP:0000811	Abnormal external genitalia	2317	FLNB	OMIM:150250
HP:0000811	Abnormal external genitalia	10283	CWC27	ORPHA:166035
HP:0000811	Abnormal external genitalia	10682	EBP	OMIM:300960
HP:0000811	Abnormal external genitalia	10682	EBP	ORPHA:401973
HP:0000811	Abnormal external genitalia	23112	TNRC6B	OMIM:619243
HP:0000811	Abnormal external genitalia	91875	TTC5	OMIM:619244
HP:0000811	Abnormal external genitalia	7169	TPM2	OMIM:108120
HP:0000811	Abnormal external genitalia	5557	PRIM1	OMIM:620005
HP:0000811	Abnormal external genitalia	55294	FBXW7	OMIM:620012
HP:0000811	Abnormal external genitalia	6095	RORA	OMIM:618060
HP:0000811	Abnormal external genitalia	23241	PACS2	OMIM:618067
HP:0000811	Abnormal external genitalia	9401	RECQL4	OMIM:268400
HP:0000811	Abnormal external genitalia	9401	RECQL4	ORPHA:221016
HP:0000811	Abnormal external genitalia	10978	CLP1	OMIM:615803
HP:0000811	Abnormal external genitalia	92579	G6PC3	OMIM:612541
HP:0000811	Abnormal external genitalia	23545	ATP6V0A2	OMIM:278250
HP:0000811	Abnormal external genitalia	23545	ATP6V0A2	ORPHA:2834
HP:0000811	Abnormal external genitalia	84300	UQCC2	OMIM:615824
HP:0000811	Abnormal external genitalia	79053	ALG8	OMIM:608104
HP:0000811	Abnormal external genitalia	54496	PRMT7	ORPHA:464288
HP:0000811	Abnormal external genitalia	165	AEBP1	ORPHA:536532
HP:0000811	Abnormal external genitalia	165	AEBP1	OMIM:618000
HP:0000811	Abnormal external genitalia	9653	HS2ST1	OMIM:619194
HP:0000811	Abnormal external genitalia	64327	LMBR1	ORPHA:2378
HP:0000811	Abnormal external genitalia	23345	SYNE1	ORPHA:319332
HP:0000811	Abnormal external genitalia	23345	SYNE1	OMIM:618484
HP:0000811	Abnormal external genitalia	4094	MAF	ORPHA:1272
HP:0000811	Abnormal external genitalia	10436	EMG1	ORPHA:1270
HP:0000811	Abnormal external genitalia	81887	LAS1L	ORPHA:3459
HP:0000811	Abnormal external genitalia	81887	LAS1L	OMIM:309585
HP:0000811	Abnormal external genitalia	2255	FGF10	ORPHA:2363
HP:0000811	Abnormal external genitalia	147372	CCBE1	OMIM:235510
HP:0000811	Abnormal external genitalia	6567	SLC16A2	ORPHA:59
HP:0000811	Abnormal external genitalia	55023	PHIP	ORPHA:589905
HP:0000811	Abnormal external genitalia	55023	PHIP	OMIM:617991
HP:0000811	Abnormal external genitalia	4854	NOTCH3	OMIM:130720
HP:0000811	Abnormal external genitalia	4854	NOTCH3	ORPHA:2789
HP:0000811	Abnormal external genitalia	4893	NRAS	OMIM:613224
HP:0000811	Abnormal external genitalia	4893	NRAS	ORPHA:648
HP:0000811	Abnormal external genitalia	2891	GRIA2	OMIM:618917
HP:0000811	Abnormal external genitalia	10560	SLC19A2	OMIM:249270
HP:0000811	Abnormal external genitalia	259232	NALCN	OMIM:615419
HP:0000811	Abnormal external genitalia	259232	NALCN	ORPHA:2053
HP:0000811	Abnormal external genitalia	79576	NKAP	OMIM:301039
HP:0000811	Abnormal external genitalia	157680	VPS13B	ORPHA:193
HP:0000811	Abnormal external genitalia	55617	TASP1	OMIM:618950
HP:0000811	Abnormal external genitalia	28957	MRPS28	OMIM:618958
HP:0000811	Abnormal external genitalia	1748	DLX4	OMIM:616788
HP:0000811	Abnormal external genitalia	23389	MED13L	OMIM:616789
HP:0000811	Abnormal external genitalia	23389	MED13L	ORPHA:369891
HP:0000811	Abnormal external genitalia	6655	SOS2	OMIM:616559
HP:0000811	Abnormal external genitalia	6655	SOS2	ORPHA:648
HP:0000811	Abnormal external genitalia	246329	STAC3	OMIM:255995
HP:0000811	Abnormal external genitalia	246329	STAC3	ORPHA:168572
HP:0000811	Abnormal external genitalia	64682	ANAPC1	ORPHA:221008
HP:0000811	Abnormal external genitalia	7528	YY1	ORPHA:506358
HP:0000811	Abnormal external genitalia	7528	YY1	OMIM:617557
HP:0000811	Abnormal external genitalia	23141	ANKLE2	OMIM:616681
HP:0000811	Abnormal external genitalia	6016	RIT1	OMIM:615355
HP:0000811	Abnormal external genitalia	6016	RIT1	ORPHA:648
HP:0000811	Abnormal external genitalia	3008	H1-4	OMIM:617537
HP:0000811	Abnormal external genitalia	64220	STRA6	OMIM:601186
HP:0000811	Abnormal external genitalia	64220	STRA6	ORPHA:2470
HP:0000811	Abnormal external genitalia	2067	ERCC1	ORPHA:90322
HP:0000811	Abnormal external genitalia	1183	CLCN4	ORPHA:485350
HP:0000811	Abnormal external genitalia	5424	POLD1	OMIM:615381
HP:0000811	Abnormal external genitalia	93627	TBCK	ORPHA:488632
HP:0000811	Abnormal external genitalia	200734	SPRED2	OMIM:619745
HP:0000811	Abnormal external genitalia	200734	SPRED2	ORPHA:648
HP:0000811	Abnormal external genitalia	1182	CLCN3	OMIM:619512
HP:0000811	Abnormal external genitalia	145258	GSC	OMIM:602471
HP:0000811	Abnormal external genitalia	2312	FLG	ORPHA:461
HP:0000811	Abnormal external genitalia	9993	DGCR2	OMIM:192430
HP:0000811	Abnormal external genitalia	8220	ESS2	OMIM:192430
HP:0000811	Abnormal external genitalia	8214	DGCR6	OMIM:192430
HP:0000811	Abnormal external genitalia	54487	DGCR8	OMIM:192430
HP:0000811	Abnormal external genitalia	5286	PIK3C2A	OMIM:618440
HP:0000811	Abnormal external genitalia	136647	MPLKIP	ORPHA:33364
HP:0000811	Abnormal external genitalia	6897	TARS1	ORPHA:33364
HP:0000811	Abnormal external genitalia	2961	GTF2E2	ORPHA:33364
HP:0000811	Abnormal external genitalia	6878	TAF6	OMIM:617126
HP:0000811	Abnormal external genitalia	6654	SOS1	OMIM:610733
HP:0000811	Abnormal external genitalia	6654	SOS1	ORPHA:648
HP:0000811	Abnormal external genitalia	5076	PAX2	ORPHA:97362
HP:0000811	Abnormal external genitalia	9759	HDAC4	OMIM:619797
HP:0000811	Abnormal external genitalia	51728	POLR3K	OMIM:619310
HP:0000811	Abnormal external genitalia	26275	HIBCH	ORPHA:88639
HP:0000811	Abnormal external genitalia	2710	GK	OMIM:307030
HP:0000811	Abnormal external genitalia	79068	FTO	OMIM:612938
HP:0000811	Abnormal external genitalia	10082	GPC6	OMIM:258315
HP:0000811	Abnormal external genitalia	10082	GPC6	ORPHA:93329
HP:0000811	Abnormal external genitalia	3265	HRAS	ORPHA:3071
HP:0000811	Abnormal external genitalia	3265	HRAS	ORPHA:2874
HP:0000811	Abnormal external genitalia	1822	ATN1	OMIM:618494
HP:0000811	Abnormal external genitalia	29895	MYL11	OMIM:619110
HP:0000811	Abnormal external genitalia	1836	SLC26A2	ORPHA:628
HP:0000811	Abnormal external genitalia	90416	CCDC32	OMIM:619123
HP:0000811	Abnormal external genitalia	57020	VPS35L	OMIM:619135
HP:0000811	Abnormal external genitalia	1984	EIF5A	OMIM:619376
HP:0000811	Abnormal external genitalia	2733	GLE1	OMIM:611890
HP:0000811	Abnormal external genitalia	22800	RRAS2	ORPHA:648
HP:0000811	Abnormal external genitalia	867	CBL	ORPHA:648
HP:0000811	Abnormal external genitalia	867	CBL	OMIM:613563
HP:0000811	Abnormal external genitalia	6237	RRAS	ORPHA:648
HP:0000811	Abnormal external genitalia	22808	MRAS	ORPHA:648
HP:0000811	Abnormal external genitalia	5922	RASA2	ORPHA:648
HP:0000811	Abnormal external genitalia	59	ACTA2	OMIM:613834
HP:0000811	Abnormal external genitalia	4693	NDP	ORPHA:649
HP:0000811	Abnormal external genitalia	221692	PHACTR1	OMIM:618298
HP:0000811	Abnormal external genitalia	5605	MAP2K2	ORPHA:638
HP:0000811	Abnormal external genitalia	5605	MAP2K2	ORPHA:1340
HP:0000811	Abnormal external genitalia	9325	TRIP4	ORPHA:486815
HP:0000811	Abnormal external genitalia	83483	PLVAP	OMIM:618183
HP:0000811	Abnormal external genitalia	83700	JAM3	OMIM:613730
HP:0000811	Abnormal external genitalia	2904	GRIN2B	OMIM:613970
HP:0000811	Abnormal external genitalia	8854	ALDH1A2	OMIM:620025
HP:0000811	Abnormal external genitalia	3636	INPPL1	ORPHA:3144
HP:0000811	Abnormal external genitalia	23169	SLC35D1	ORPHA:3144
HP:0000811	Abnormal external genitalia	8496	PPFIBP1	OMIM:620024
HP:0000811	Abnormal external genitalia	26053	AUTS2	ORPHA:352490
HP:0000811	Abnormal external genitalia	5826	ABCD4	OMIM:614857
HP:0000811	Abnormal external genitalia	5594	MAPK1	OMIM:619087
HP:0000811	Abnormal external genitalia	25802	LMOD1	ORPHA:2241
HP:0000811	Abnormal external genitalia	4629	MYH11	ORPHA:2241
HP:0000811	Abnormal external genitalia	72	ACTG2	ORPHA:2241
HP:0000811	Abnormal external genitalia	4638	MYLK	ORPHA:2241
HP:0000811	Abnormal external genitalia	5832	ALDH18A1	OMIM:219150
HP:0000811	Abnormal external genitalia	84919	PPP1R15B	OMIM:616817
HP:0000811	Abnormal external genitalia	51244	CCDC174	OMIM:616816
HP:0000811	Abnormal external genitalia	5915	RARB	ORPHA:2470
HP:0000811	Abnormal external genitalia	5915	RARB	OMIM:615524
HP:0000811	Abnormal external genitalia	254065	BRWD3	OMIM:300659
HP:0000811	Abnormal external genitalia	274	BIN1	ORPHA:169189
HP:0000811	Abnormal external genitalia	64419	MTMR14	ORPHA:169189
HP:0000811	Abnormal external genitalia	4618	MYF6	ORPHA:169189
HP:0000811	Abnormal external genitalia	1785	DNM2	ORPHA:169189
HP:0000811	Abnormal external genitalia	2702	GJA5	ORPHA:3303
HP:0000811	Abnormal external genitalia	1482	NKX2-5	ORPHA:3303
HP:0000811	Abnormal external genitalia	137814	NKX2-6	ORPHA:3303
HP:0000811	Abnormal external genitalia	3791	KDR	ORPHA:3303
HP:0000811	Abnormal external genitalia	2627	GATA6	ORPHA:3303
HP:0000811	Abnormal external genitalia	2657	GDF1	ORPHA:3303
HP:0000811	Abnormal external genitalia	182	JAG1	ORPHA:3303
HP:0000811	Abnormal external genitalia	140628	GATA5	ORPHA:3303
HP:0000811	Abnormal external genitalia	10370	CITED2	ORPHA:3303
HP:0000811	Abnormal external genitalia	5831	PYCR1	OMIM:614438
HP:0000811	Abnormal external genitalia	4297	KMT2A	OMIM:605130
HP:0000811	Abnormal external genitalia	2592	GALT	ORPHA:79239
HP:0000811	Abnormal external genitalia	10265	IRX5	OMIM:611174
HP:0000811	Abnormal external genitalia	7074	TIAM1	OMIM:619908
HP:0000811	Abnormal external genitalia	8905	AP1S2	ORPHA:1568
HP:0000811	Abnormal external genitalia	8241	RBM10	ORPHA:2886
HP:0000811	Abnormal external genitalia	5455	POU3F3	OMIM:618604
HP:0000811	Abnormal external genitalia	3251	HPRT1	OMIM:300322
HP:0000811	Abnormal external genitalia	7466	WFS1	OMIM:222300
HP:0000811	Abnormal external genitalia	5428	POLG	OMIM:157640
HP:0000811	Abnormal external genitalia	654	BMP6	ORPHA:465508
HP:0000811	Abnormal external genitalia	3077	HFE	ORPHA:465508
HP:0000811	Abnormal external genitalia	3077	HFE	OMIM:235200
HP:0000811	Abnormal external genitalia	1760	DMPK	OMIM:160900
HP:0000811	Abnormal external genitalia	650	BMP2	OMIM:235200
HP:0000811	Abnormal external genitalia	54345	SOX18	OMIM:137940
HP:0000811	Abnormal external genitalia	54345	SOX18	ORPHA:69735
HP:0000811	Abnormal external genitalia	54345	SOX18	OMIM:607823
HP:0000811	Abnormal external genitalia	1802	DPH2	OMIM:620062
HP:0000811	Abnormal external genitalia	9780	PIEZO1	OMIM:616843
HP:0000811	Abnormal external genitalia	2324	FLT4	OMIM:153100
HP:0000811	Abnormal external genitalia	2324	FLT4	ORPHA:79452
HP:0000811	Abnormal external genitalia	285	ANGPT2	OMIM:619369
HP:0000811	Abnormal external genitalia	9508	ADAMTS3	OMIM:618154
HP:0000811	Abnormal external genitalia	9739	SETD1A	OMIM:618832
HP:0000811	Abnormal external genitalia	57165	GJC2	ORPHA:79452
HP:0000811	Abnormal external genitalia	2122	MECOM	OMIM:616738
HP:0000811	Abnormal external genitalia	80267	EDEM3	OMIM:619493
HP:0000811	Abnormal external genitalia	9487	PIGL	OMIM:280000
HP:0000811	Abnormal external genitalia	55901	THSD1	OMIM:620244
HP:0000811	Abnormal external genitalia	29969	MDFIC	OMIM:620014
HP:0000811	Abnormal external genitalia	7424	VEGFC	OMIM:615907
HP:0000811	Abnormal external genitalia	472	ATM	ORPHA:100
HP:0000811	Abnormal external genitalia	2697	GJA1	ORPHA:317
HP:0000811	Abnormal external genitalia	2707	GJB3	ORPHA:317
HP:0000811	Abnormal external genitalia	2531	KDSR	ORPHA:317
HP:0000811	Abnormal external genitalia	127534	GJB4	ORPHA:317
HP:0000811	Abnormal external genitalia	10483	SEC23B	ORPHA:201
HP:0000811	Abnormal external genitalia	6390	SDHB	ORPHA:201
HP:0000811	Abnormal external genitalia	6392	SDHD	ORPHA:201
HP:0000811	Abnormal external genitalia	6391	SDHC	ORPHA:201
HP:0000811	Abnormal external genitalia	205717	USF3	ORPHA:201
HP:0000811	Abnormal external genitalia	5290	PIK3CA	ORPHA:201
HP:0000811	Abnormal external genitalia	100144748	KLLN	ORPHA:201
HP:0000811	Abnormal external genitalia	3845	KRAS	ORPHA:3339
HP:0000811	Abnormal external genitalia	63895	PIEZO2	ORPHA:2461
HP:0000811	Abnormal external genitalia	55733	HHAT	ORPHA:1422
HP:0000811	Abnormal external genitalia	55733	HHAT	OMIM:600092
HP:0000811	Abnormal external genitalia	268	AMH	ORPHA:2856
HP:0000811	Abnormal external genitalia	269	AMHR2	ORPHA:2856
HP:0000811	Abnormal external genitalia	1761	DMRT1	ORPHA:242
HP:0000811	Abnormal external genitalia	84733	CBX2	ORPHA:242
HP:0000811	Abnormal external genitalia	50846	DHH	ORPHA:242
HP:0000811	Abnormal external genitalia	3110	MNX1	ORPHA:1552
HP:0000811	Abnormal external genitalia	5567	PRKACB	ORPHA:289
HP:0000811	Abnormal external genitalia	2735	GLI1	ORPHA:289
HP:0000811	Abnormal external genitalia	2121	EVC	ORPHA:289
HP:0000811	Abnormal external genitalia	2121	EVC	OMIM:225500
HP:0000811	Abnormal external genitalia	51626	DYNC2LI1	ORPHA:289
HP:0000811	Abnormal external genitalia	132884	EVC2	ORPHA:289
HP:0000811	Abnormal external genitalia	132884	EVC2	OMIM:225500
HP:0000811	Abnormal external genitalia	29123	ANKRD11	OMIM:148050
HP:0000811	Abnormal external genitalia	26005	C2CD3	ORPHA:434179
HP:0000811	Abnormal external genitalia	26005	C2CD3	OMIM:615948
HP:0000811	Abnormal external genitalia	157570	ESCO2	OMIM:268300
HP:0000811	Abnormal external genitalia	157570	ESCO2	ORPHA:3103
HP:0000811	Abnormal external genitalia	3756	KCNH1	OMIM:135500
HP:0000811	Abnormal external genitalia	3973	LHCGR	ORPHA:3000
HP:0000811	Abnormal external genitalia	11128	POLR3A	OMIM:264090
HP:0000811	Abnormal external genitalia	83550	GPR101	ORPHA:963
HP:0000811	Abnormal external genitalia	9049	AIP	ORPHA:963
HP:0000811	Abnormal external genitalia	9839	ZEB2	ORPHA:261537
HP:0000811	Abnormal external genitalia	9839	ZEB2	ORPHA:261552
HP:0000811	Abnormal external genitalia	23028	KDM1A	ORPHA:477993
HP:0000811	Abnormal external genitalia	23028	KDM1A	OMIM:616728
HP:0000811	Abnormal external genitalia	7750	ZMYM2	OMIM:619522
HP:0000811	Abnormal external genitalia	9578	CDC42BPB	OMIM:619841
HP:0000811	Abnormal external genitalia	1859	DYRK1A	ORPHA:268261
HP:0000811	Abnormal external genitalia	833	CARS1	OMIM:618891
HP:0000811	Abnormal external genitalia	4659	PPP1R12A	OMIM:618820
HP:0000811	Abnormal external genitalia	7473	WNT3	OMIM:273395
HP:0000811	Abnormal external genitalia	5324	PLAG1	ORPHA:397590
HP:0000811	Abnormal external genitalia	8091	HMGA2	ORPHA:397590
HP:0000811	Abnormal external genitalia	201595	STT3B	OMIM:615597
HP:0000811	Abnormal external genitalia	201595	STT3B	ORPHA:370924
HP:0000811	Abnormal external genitalia	10056	FARSB	OMIM:613658
HP:0000811	Abnormal external genitalia	84172	POLR1B	ORPHA:861
HP:0000811	Abnormal external genitalia	9533	POLR1C	ORPHA:861
HP:0000811	Abnormal external genitalia	51082	POLR1D	ORPHA:861
HP:0000811	Abnormal external genitalia	6949	TCOF1	ORPHA:861
HP:0000811	Abnormal external genitalia	4983	OPHN1	OMIM:300486
HP:0000811	Abnormal external genitalia	84162	BLTP1	OMIM:617822
HP:0000811	Abnormal external genitalia	4010	LMX1B	ORPHA:495818
HP:0000811	Abnormal external genitalia	6812	STXBP1	ORPHA:495818
HP:0000811	Abnormal external genitalia	10982	MAPRE2	OMIM:616734
HP:0000811	Abnormal external genitalia	10982	MAPRE2	ORPHA:2505
HP:0000811	Abnormal external genitalia	5818	NECTIN1	ORPHA:3253
HP:0000811	Abnormal external genitalia	2068	ERCC2	OMIM:610756
HP:0000811	Abnormal external genitalia	3703	STT3A	ORPHA:370921
HP:0000811	Abnormal external genitalia	9968	MED12	OMIM:300895
HP:0000811	Abnormal external genitalia	6261	RYR1	ORPHA:98905
HP:0000811	Abnormal external genitalia	7476	WNT7A	OMIM:276820
HP:0000811	Abnormal external genitalia	4621	MYH3	ORPHA:2990
HP:0000811	Abnormal external genitalia	1146	CHRNG	ORPHA:2990
HP:0000811	Abnormal external genitalia	84295	PHF6	ORPHA:127
HP:0000811	Abnormal external genitalia	79087	ALG12	OMIM:607143
HP:0000811	Abnormal external genitalia	3730	ANOS1	OMIM:308700
HP:0000811	Abnormal external genitalia	10908	PNPLA6	OMIM:245800
HP:0000811	Abnormal external genitalia	6926	TBX3	OMIM:181450
HP:0000811	Abnormal external genitalia	652	BMP4	OMIM:607932
HP:0000811	Abnormal external genitalia	8295	TRRAP	OMIM:618454
HP:0000811	Abnormal external genitalia	60529	ALX4	ORPHA:228390
HP:0000811	Abnormal external genitalia	203068	TUBB	ORPHA:2505
HP:0000811	Abnormal external genitalia	26235	FBXL4	OMIM:615471
HP:0000811	Abnormal external genitalia	1947	EFNB1	ORPHA:1520
HP:0000811	Abnormal external genitalia	1947	EFNB1	OMIM:304110
HP:0000811	Abnormal external genitalia	23363	OBSL1	ORPHA:2616
HP:0000811	Abnormal external genitalia	83987	CCDC8	ORPHA:2616
HP:0000811	Abnormal external genitalia	81857	MED25	OMIM:616449
HP:0000811	Abnormal external genitalia	81857	MED25	ORPHA:464738
HP:0000811	Abnormal external genitalia	267010	RNU12	OMIM:603116
HP:0000811	Abnormal external genitalia	5932	RBBP8	OMIM:606744
HP:0000811	Abnormal external genitalia	116931	MED12L	OMIM:618872
HP:0000811	Abnormal external genitalia	8239	USP9X	OMIM:300919
HP:0000811	Abnormal external genitalia	4853	NOTCH2	OMIM:102500
HP:0000811	Abnormal external genitalia	4853	NOTCH2	ORPHA:955
HP:0000811	Abnormal external genitalia	7020	TFAP2A	OMIM:113620
HP:0000811	Abnormal external genitalia	1281	COL3A1	ORPHA:286
HP:0000811	Abnormal external genitalia	10815	CPLX1	ORPHA:280
HP:0000811	Abnormal external genitalia	10815	CPLX1	OMIM:194190
HP:0000811	Abnormal external genitalia	54872	PIGG	ORPHA:280
HP:0000811	Abnormal external genitalia	7469	NELFA	ORPHA:280
HP:0000811	Abnormal external genitalia	1487	CTBP1	ORPHA:280
HP:0000811	Abnormal external genitalia	1487	CTBP1	OMIM:194190
HP:0000811	Abnormal external genitalia	3954	LETM1	ORPHA:280
HP:0000811	Abnormal external genitalia	3954	LETM1	OMIM:194190
HP:0000811	Abnormal external genitalia	7468	NSD2	ORPHA:280
HP:0000811	Abnormal external genitalia	7468	NSD2	OMIM:194190
HP:0000811	Abnormal external genitalia	54968	TMEM70	OMIM:614052
HP:0000811	Abnormal external genitalia	54968	TMEM70	ORPHA:1194
HP:0000811	Abnormal external genitalia	57178	ZMIZ1	OMIM:618659
HP:0000811	Abnormal external genitalia	8642	DCHS1	OMIM:601390
HP:0000811	Abnormal external genitalia	8642	DCHS1	ORPHA:314679
HP:0000811	Abnormal external genitalia	2316	FLNA	ORPHA:90652
HP:0000811	Abnormal external genitalia	2316	FLNA	OMIM:304120
HP:0000811	Abnormal external genitalia	54880	BCOR	OMIM:309800
HP:0000811	Abnormal external genitalia	54880	BCOR	ORPHA:568
HP:0000811	Abnormal external genitalia	54880	BCOR	OMIM:300166
HP:0000811	Abnormal external genitalia	54914	FOCAD	OMIM:619991
HP:0000811	Abnormal external genitalia	8363	H4C11	OMIM:619759
HP:0000811	Abnormal external genitalia	9772	TMEM94	OMIM:618316
HP:0000811	Abnormal external genitalia	9725	TMEM63A	OMIM:618688
HP:0000811	Abnormal external genitalia	6135	RPL11	ORPHA:124
HP:0000811	Abnormal external genitalia	6138	RPL15	ORPHA:124
HP:0000811	Abnormal external genitalia	6229	RPS24	ORPHA:124
HP:0000811	Abnormal external genitalia	6125	RPL5	ORPHA:124
HP:0000811	Abnormal external genitalia	6204	RPS10	ORPHA:124
HP:0000811	Abnormal external genitalia	6224	RPS20	ORPHA:124
HP:0000811	Abnormal external genitalia	6165	RPL35A	ORPHA:124
HP:0000811	Abnormal external genitalia	6165	RPL35A	OMIM:612528
HP:0000811	Abnormal external genitalia	2623	GATA1	ORPHA:124
HP:0000811	Abnormal external genitalia	6223	RPS19	ORPHA:124
HP:0000811	Abnormal external genitalia	6232	RPS27	ORPHA:124
HP:0000811	Abnormal external genitalia	6231	RPS26	ORPHA:124
HP:0000811	Abnormal external genitalia	11224	RPL35	ORPHA:124
HP:0000811	Abnormal external genitalia	6160	RPL31	ORPHA:124
HP:0000811	Abnormal external genitalia	6218	RPS17	ORPHA:124
HP:0000811	Abnormal external genitalia	6201	RPS7	ORPHA:124
HP:0000811	Abnormal external genitalia	6155	RPL27	ORPHA:124
HP:0000811	Abnormal external genitalia	6154	RPL26	ORPHA:124
HP:0000811	Abnormal external genitalia	6210	RPS15A	ORPHA:124
HP:0000811	Abnormal external genitalia	6141	RPL18	ORPHA:124
HP:0000811	Abnormal external genitalia	6235	RPS29	ORPHA:124
HP:0000811	Abnormal external genitalia	6234	RPS28	ORPHA:124
HP:0000811	Abnormal external genitalia	51816	ADA2	ORPHA:124
HP:0000811	Abnormal external genitalia	1523	CUX1	OMIM:618330
HP:0000811	Abnormal external genitalia	22827	PUF60	ORPHA:508498
HP:0000811	Abnormal external genitalia	6477	SIAH1	OMIM:619314
HP:0000811	Abnormal external genitalia	10765	KDM5B	OMIM:618109
HP:0000811	Abnormal external genitalia	5308	PITX2	ORPHA:782
HP:0000811	Abnormal external genitalia	5308	PITX2	OMIM:180500
HP:0000811	Abnormal external genitalia	2296	FOXC1	ORPHA:782
HP:0000811	Abnormal external genitalia	27125	AFF4	ORPHA:444077
HP:0000811	Abnormal external genitalia	29998	BICRA	OMIM:619325
HP:0000811	Abnormal external genitalia	3039	HBA1	ORPHA:98791
HP:0000811	Abnormal external genitalia	3040	HBA2	ORPHA:98791
HP:0000811	Abnormal external genitalia	6928	HNF1B	OMIM:137920
HP:0000811	Abnormal external genitalia	6928	HNF1B	ORPHA:93111
HP:0000811	Abnormal external genitalia	1312	COMT	ORPHA:567
HP:0000811	Abnormal external genitalia	221037	JMJD1C	ORPHA:567
HP:0000811	Abnormal external genitalia	2812	GP1BB	ORPHA:567
HP:0000811	Abnormal external genitalia	6239	RREB1	ORPHA:567
HP:0000811	Abnormal external genitalia	6899	TBX1	ORPHA:567
HP:0000811	Abnormal external genitalia	7290	HIRA	ORPHA:567
HP:0000811	Abnormal external genitalia	9632	SEC24C	ORPHA:567
HP:0000811	Abnormal external genitalia	7353	UFD1	ORPHA:567
HP:0000811	Abnormal external genitalia	421	ARVCF	ORPHA:567
HP:0000811	Abnormal external genitalia	10524	KAT5	OMIM:619103
HP:0000811	Abnormal external genitalia	8802	SUCLG1	ORPHA:17
HP:0000811	Abnormal external genitalia	4700	NDUFA6	OMIM:618253
HP:0000811	Abnormal external genitalia	2475	MTOR	ORPHA:457485
HP:0000811	Abnormal external genitalia	673	BRAF	ORPHA:500
HP:0000811	Abnormal external genitalia	673	BRAF	OMIM:163950
HP:0000811	Abnormal external genitalia	5894	RAF1	ORPHA:500
HP:0000811	Abnormal external genitalia	2887	GRB10	ORPHA:96182
HP:0000811	Abnormal external genitalia	22995	CEP152	OMIM:613823
HP:0000811	Abnormal external genitalia	6748	SSR4	OMIM:300934
HP:0000811	Abnormal external genitalia	219844	HYLS1	OMIM:236680
HP:0000811	Abnormal external genitalia	55181	SMG8	OMIM:619268
HP:0000811	Abnormal external genitalia	3735	KARS1	OMIM:619147
HP:0000811	Abnormal external genitalia	4713	NDUFB7	OMIM:620135
HP:0000811	Abnormal external genitalia	4702	NDUFA8	OMIM:619272
HP:0000811	Abnormal external genitalia	10128	LRPPRC	OMIM:220111
HP:0000811	Abnormal external genitalia	2294	FOXF1	OMIM:265380
HP:0000811	Abnormal external genitalia	23556	PIGN	ORPHA:2059
HP:0000811	Abnormal external genitalia	29072	SETD2	ORPHA:821
HP:0000811	Abnormal external genitalia	10297	APC2	ORPHA:821
HP:0000811	Abnormal external genitalia	55780	ERMARD	ORPHA:75857
HP:0000811	Abnormal external genitalia	9382	COG1	OMIM:611209
HP:0000811	Abnormal external genitalia	1136	CHRNA3	OMIM:191800
HP:0000811	Abnormal external genitalia	672	BRCA1	ORPHA:84
HP:0000811	Abnormal external genitalia	10459	MAD2L2	ORPHA:84
HP:0000811	Abnormal external genitalia	29089	UBE2T	ORPHA:84
HP:0000811	Abnormal external genitalia	675	BRCA2	ORPHA:84
HP:0000811	Abnormal external genitalia	2175	FANCA	ORPHA:84
HP:0000811	Abnormal external genitalia	2176	FANCC	ORPHA:84
HP:0000811	Abnormal external genitalia	2178	FANCE	ORPHA:84
HP:0000811	Abnormal external genitalia	2189	FANCG	ORPHA:84
HP:0000811	Abnormal external genitalia	5888	RAD51	ORPHA:84
HP:0000811	Abnormal external genitalia	55159	RFWD3	ORPHA:84
HP:0000811	Abnormal external genitalia	83990	BRIP1	ORPHA:84
HP:0000811	Abnormal external genitalia	79728	PALB2	ORPHA:84
HP:0000811	Abnormal external genitalia	84464	SLX4	ORPHA:84
HP:0000811	Abnormal external genitalia	55215	FANCI	ORPHA:84
HP:0000811	Abnormal external genitalia	7080	NKX2-1	ORPHA:209905
HP:0000811	Abnormal external genitalia	222663	SCUBE3	OMIM:619184
HP:0000811	Abnormal external genitalia	83879	CDCA7	OMIM:616910
HP:0000811	Abnormal external genitalia	53834	FGFRL1	OMIM:194190
HP:0000811	Abnormal external genitalia	5828	PEX2	OMIM:614866
HP:0000811	Abnormal external genitalia	5828	PEX2	ORPHA:912
HP:0000811	Abnormal external genitalia	57459	GATAD2B	ORPHA:363686
HP:0000811	Abnormal external genitalia	9652	SKIC3	OMIM:222470
HP:0000811	Abnormal external genitalia	5631	PRPS1	OMIM:300661
HP:0000811	Abnormal external genitalia	55670	PEX26	ORPHA:912
HP:0000811	Abnormal external genitalia	5824	PEX19	ORPHA:912
HP:0000811	Abnormal external genitalia	8504	PEX3	ORPHA:912
HP:0000811	Abnormal external genitalia	8799	PEX11B	ORPHA:912
HP:0000811	Abnormal external genitalia	9409	PEX16	ORPHA:912
HP:0000811	Abnormal external genitalia	5830	PEX5	ORPHA:912
HP:0000811	Abnormal external genitalia	5193	PEX12	ORPHA:912
HP:0000811	Abnormal external genitalia	5194	PEX13	ORPHA:912
HP:0000811	Abnormal external genitalia	5195	PEX14	ORPHA:912
HP:0000811	Abnormal external genitalia	5192	PEX10	ORPHA:912
HP:0000811	Abnormal external genitalia	10159	ATP6AP2	OMIM:301045
HP:0000811	Abnormal external genitalia	10586	MAB21L2	OMIM:615877
HP:0000811	Abnormal external genitalia	55209	SETD5	OMIM:615761
HP:0000811	Abnormal external genitalia	998	CDC42	OMIM:616737
HP:0000811	Abnormal external genitalia	998	CDC42	ORPHA:487796
HP:0000811	Abnormal external genitalia	8831	SYNGAP1	ORPHA:544254
HP:0000811	Abnormal external genitalia	6597	SMARCA4	ORPHA:1465
HP:0000811	Abnormal external genitalia	6598	SMARCB1	ORPHA:1465
HP:0000811	Abnormal external genitalia	6659	SOX4	ORPHA:1465
HP:0000811	Abnormal external genitalia	8289	ARID1A	ORPHA:1465
HP:0000811	Abnormal external genitalia	5977	DPF2	ORPHA:1465
HP:0000811	Abnormal external genitalia	6601	SMARCC2	ORPHA:1465
HP:0000811	Abnormal external genitalia	6602	SMARCD1	ORPHA:1465
HP:0000811	Abnormal external genitalia	196528	ARID2	ORPHA:1465
HP:0000811	Abnormal external genitalia	6605	SMARCE1	ORPHA:1465
HP:0000811	Abnormal external genitalia	6664	SOX11	ORPHA:1465
HP:0000811	Abnormal external genitalia	134701	RIPPLY2	ORPHA:2311
HP:0000811	Abnormal external genitalia	10683	DLL3	ORPHA:2311
HP:0000811	Abnormal external genitalia	3955	LFNG	ORPHA:2311
HP:0000811	Abnormal external genitalia	84667	HES7	ORPHA:2311
HP:0000811	Abnormal external genitalia	145873	MESP2	ORPHA:2311
HP:0000811	Abnormal external genitalia	25	ABL1	OMIM:617602
HP:0000811	Abnormal external genitalia	545	ATR	OMIM:210600
HP:0000811	Abnormal external genitalia	5723	PSPH	ORPHA:79350
HP:0000811	Abnormal external genitalia	1589	CYP21A2	OMIM:201910
HP:0000811	Abnormal external genitalia	4796	TONSL	ORPHA:93357
HP:0000811	Abnormal external genitalia	5879	RAC1	OMIM:617751
HP:0000811	Abnormal external genitalia	5879	RAC1	ORPHA:500159
HP:0000811	Abnormal external genitalia	51780	KDM3B	OMIM:618846
HP:0000811	Abnormal external genitalia	4724	NDUFS4	OMIM:252010
HP:0000811	Abnormal external genitalia	1468	SLC25A10	OMIM:618972
HP:0000811	Abnormal external genitalia	5604	MAP2K1	OMIM:163950
HP:0000811	Abnormal external genitalia	26128	KIFBP	ORPHA:66629
HP:0000811	Abnormal external genitalia	51733	UPB1	OMIM:613161
HP:0000811	Abnormal external genitalia	51651	PTRH2	OMIM:616263
HP:0000811	Abnormal external genitalia	51651	PTRH2	ORPHA:456312
HP:0000811	Abnormal external genitalia	3975	LHX1	ORPHA:261265
HP:0000811	Abnormal external genitalia	340533	NEXMIF	ORPHA:85277
HP:0000811	Abnormal external genitalia	54499	TMCO1	OMIM:213980
HP:0000811	Abnormal external genitalia	9496	TBX4	ORPHA:261279
HP:0000811	Abnormal external genitalia	23384	SPECC1L	OMIM:145420
HP:0000811	Abnormal external genitalia	23384	SPECC1L	ORPHA:1519
HP:0000811	Abnormal external genitalia	124512	METTL23	OMIM:615942
HP:0000811	Abnormal external genitalia	10269	ZMPSTE24	ORPHA:740
HP:0000811	Abnormal external genitalia	8087	FXR1	OMIM:618823
HP:0000811	Abnormal external genitalia	10274	STAG1	ORPHA:502434
HP:0000811	Abnormal external genitalia	4204	MECP2	OMIM:300055
HP:0000811	Abnormal external genitalia	4204	MECP2	ORPHA:3077
HP:0000811	Abnormal external genitalia	27316	RBMX	OMIM:300238
HP:0000811	Abnormal external genitalia	8367	H4C5	OMIM:619950
HP:0000811	Abnormal external genitalia	4763	NF1	ORPHA:139474
HP:0000811	Abnormal external genitalia	11141	IL1RAPL1	OMIM:300143
HP:0000811	Abnormal external genitalia	1193	CLIC2	OMIM:300886
HP:0000811	Abnormal external genitalia	1193	CLIC2	ORPHA:324410
HP:0000811	Abnormal external genitalia	175	AGA	OMIM:208400
HP:0000811	Abnormal external genitalia	175	AGA	ORPHA:93
HP:0000811	Abnormal external genitalia	51114	ZDHHC9	ORPHA:776
HP:0000811	Abnormal external genitalia	65109	UPF3B	ORPHA:776
HP:0000811	Abnormal external genitalia	7252	TSHB	ORPHA:90674
HP:0000811	Abnormal external genitalia	8294	H4C9	OMIM:619951
HP:0000811	Abnormal external genitalia	6938	TCF12	OMIM:619718
HP:0000811	Abnormal external genitalia	91801	ALKBH8	OMIM:618504
HP:0000811	Abnormal external genitalia	4281	MID1	OMIM:300000
HP:0000811	Abnormal external genitalia	374654	KIF7	OMIM:200990
HP:0000811	Abnormal external genitalia	58	ACTA1	ORPHA:171430
HP:0000811	Abnormal external genitalia	4703	NEB	ORPHA:171430
HP:0000811	Abnormal external genitalia	131377	KLHL40	ORPHA:171430
HP:0000811	Abnormal external genitalia	10324	KLHL41	ORPHA:171430
HP:0000811	Abnormal external genitalia	56203	LMOD3	ORPHA:171430
HP:0000811	Abnormal external genitalia	1723	DHODH	OMIM:263750
HP:0000811	Abnormal external genitalia	1841	DTYMK	OMIM:619847
HP:0000811	Abnormal external genitalia	56623	INPP5E	ORPHA:75858
HP:0000811	Abnormal external genitalia	56623	INPP5E	OMIM:610156
HP:0000811	Abnormal external genitalia	1161	ERCC8	OMIM:216400
HP:0000811	Abnormal external genitalia	1889	ECE1	OMIM:613870
HP:0000811	Abnormal external genitalia	2688	GH1	OMIM:612781
HP:0000811	Abnormal external genitalia	815	CAMK2A	OMIM:617798
HP:0000811	Abnormal external genitalia	84823	LMNB2	OMIM:619180
HP:0000811	Abnormal external genitalia	283987	HID1	OMIM:619983
HP:0000811	Abnormal external genitalia	1656	DDX6	OMIM:618653
HP:0000811	Abnormal external genitalia	132158	GLYCTK	OMIM:220120
HP:0000811	Abnormal external genitalia	55148	UBR7	OMIM:619189
HP:0000811	Abnormal external genitalia	2783	GNB2	OMIM:619503
HP:0000811	Abnormal external genitalia	253738	EBF3	OMIM:617330
HP:0000811	Abnormal external genitalia	8879	SGPL1	OMIM:617575
HP:0000811	Abnormal external genitalia	79718	TBL1XR1	OMIM:602342
HP:0000811	Abnormal external genitalia	5700	PSMC1	OMIM:620071
HP:0000811	Abnormal external genitalia	79228	THOC6	ORPHA:363444
HP:0000811	Abnormal external genitalia	59336	PRDM13	OMIM:619761
HP:0000811	Abnormal external genitalia	5591	PRKDC	OMIM:615966
HP:0000811	Abnormal external genitalia	6925	TCF4	OMIM:610954
HP:0000811	Abnormal external genitalia	6925	TCF4	ORPHA:2896
HP:0000811	Abnormal external genitalia	3911	LAMA5	OMIM:620076
HP:0000811	Abnormal external genitalia	55120	FANCL	OMIM:614083
HP:0000811	Abnormal external genitalia	10661	KLF1	OMIM:613673
HP:0000811	Abnormal external genitalia	5781	PTPN11	OMIM:151100
HP:0000811	Abnormal external genitalia	27152	INTU	OMIM:617925
HP:0000811	Abnormal external genitalia	27152	INTU	OMIM:617926
HP:0000811	Abnormal external genitalia	5426	POLE	OMIM:618336
HP:0000811	Abnormal external genitalia	7319	UBE2A	ORPHA:163956
HP:0000811	Abnormal external genitalia	7319	UBE2A	OMIM:300860
HP:0000811	Abnormal external genitalia	10535	RNASEH2A	ORPHA:51
HP:0000811	Abnormal external genitalia	84153	RNASEH2C	ORPHA:51
HP:0000811	Abnormal external genitalia	25939	SAMHD1	ORPHA:51
HP:0000811	Abnormal external genitalia	79621	RNASEH2B	ORPHA:51
HP:0000811	Abnormal external genitalia	103	ADAR	ORPHA:51
HP:0000811	Abnormal external genitalia	11277	TREX1	ORPHA:51
HP:0000811	Abnormal external genitalia	100147744	RNU7-1	ORPHA:51
HP:0000811	Abnormal external genitalia	100147744	RNU7-1	OMIM:619487
HP:0000811	Abnormal external genitalia	134353	LSM11	ORPHA:51
HP:0000811	Abnormal external genitalia	64135	IFIH1	ORPHA:51
HP:0000811	Abnormal external genitalia	6792	CDKL5	ORPHA:1934
HP:0000811	Abnormal external genitalia	3736	KCNA1	ORPHA:1934
HP:0000811	Abnormal external genitalia	9091	PIGQ	ORPHA:1934
HP:0000811	Abnormal external genitalia	2775	GNAO1	ORPHA:1934
HP:0000811	Abnormal external genitalia	81603	TRIM8	ORPHA:1934
HP:0000811	Abnormal external genitalia	2902	GRIN1	ORPHA:1934
HP:0000811	Abnormal external genitalia	79751	SLC25A22	ORPHA:1934
HP:0000811	Abnormal external genitalia	150094	SIK1	ORPHA:1934
HP:0000811	Abnormal external genitalia	8573	CASK	ORPHA:1934
HP:0000811	Abnormal external genitalia	2917	GRM7	ORPHA:1934
HP:0000811	Abnormal external genitalia	11284	PNKP	ORPHA:1934
HP:0000811	Abnormal external genitalia	6326	SCN2A	ORPHA:1934
HP:0000811	Abnormal external genitalia	51227	PIGP	ORPHA:1934
HP:0000811	Abnormal external genitalia	6324	SCN1B	ORPHA:1934
HP:0000811	Abnormal external genitalia	4761	NEUROD2	ORPHA:1934
HP:0000811	Abnormal external genitalia	10075	HUWE1	OMIM:309590
HP:0000811	Abnormal external genitalia	2074	ERCC6	OMIM:133540
HP:0000811	Abnormal external genitalia	10466	COG5	ORPHA:263487
HP:0000811	Abnormal external genitalia	56896	DPYSL5	OMIM:619435
HP:0000811	Abnormal external genitalia	2187	FANCB	OMIM:300514
HP:0000811	Abnormal external genitalia	100151683	RNU4ATAC	OMIM:210710
HP:0000811	Abnormal external genitalia	55593	OTUD5	OMIM:301056
HP:0000811	Abnormal external genitalia	113179	ADAT3	ORPHA:363528
HP:0000811	Abnormal external genitalia	55784	MCTP2	ORPHA:1596
HP:0000811	Abnormal external genitalia	1363	CPE	OMIM:619326
HP:0000811	Abnormal external genitalia	29925	GMPPB	ORPHA:370968
HP:0000811	Abnormal external genitalia	8925	HERC1	ORPHA:457359
HP:0000811	Abnormal external genitalia	7874	USP7	OMIM:616863
HP:0000811	Abnormal external genitalia	7874	USP7	ORPHA:500055
HP:0000811	Abnormal external genitalia	1000	CDH2	OMIM:618929
HP:0000811	Abnormal external genitalia	80311	KLHL15	OMIM:300982
HP:0000811	Abnormal external genitalia	1641	DCX	OMIM:300067
HP:0000811	Abnormal external genitalia	7317	UBA1	OMIM:301830
HP:0000811	Abnormal external genitalia	5277	PIGA	OMIM:300868
HP:0000811	Abnormal external genitalia	55210	ATAD3A	OMIM:618810
HP:0000811	Abnormal external genitalia	79633	FAT4	OMIM:615546
HP:0000811	Abnormal external genitalia	4990	SIX6	OMIM:206900
HP:0000811	Abnormal external genitalia	9851	KIAA0753	OMIM:619479
HP:0000811	Abnormal external genitalia	2892	GRIA3	ORPHA:364028
HP:0000811	Abnormal external genitalia	340419	RSPO2	OMIM:618021
HP:0000811	Abnormal external genitalia	6711	SPTBN1	OMIM:619475
HP:0000811	Abnormal external genitalia	6608	SMO	OMIM:241800
HP:0000811	Abnormal external genitalia	80036	TRPM3	OMIM:620224
HP:0000811	Abnormal external genitalia	2132	EXT2	ORPHA:52022
HP:0000811	Abnormal external genitalia	51317	PHF21A	ORPHA:52022
HP:0000811	Abnormal external genitalia	8567	MADD	OMIM:619004
HP:0000811	Abnormal external genitalia	8567	MADD	OMIM:619005
HP:0000811	Abnormal external genitalia	202018	TAPT1	OMIM:616897
HP:0000811	Abnormal external genitalia	2177	FANCD2	OMIM:227646
HP:0000811	Abnormal external genitalia	4047	LSS	OMIM:618840
HP:0000811	Abnormal external genitalia	23247	KATNIP	OMIM:616784
HP:0000811	Abnormal external genitalia	9786	KIAA0586	OMIM:616546
HP:0000811	Abnormal external genitalia	5718	PSMD12	OMIM:617516
HP:0000811	Abnormal external genitalia	523	ATP6V1A	OMIM:617403
HP:0000811	Abnormal external genitalia	529	ATP6V1E1	OMIM:617402
HP:0000811	Abnormal external genitalia	54888	NSUN2	ORPHA:235
HP:0000811	Abnormal external genitalia	5144	PDE4D	ORPHA:950
HP:0000811	Abnormal external genitalia	7852	CXCR4	OMIM:193670
HP:0000811	Abnormal external genitalia	5116	PCNT	ORPHA:2637
HP:0000811	Abnormal external genitalia	6888	TALDO1	ORPHA:101028
HP:0000811	Abnormal external genitalia	23476	BRD4	ORPHA:199
HP:0000811	Abnormal external genitalia	9126	SMC3	ORPHA:199
HP:0000811	Abnormal external genitalia	8243	SMC1A	ORPHA:199
HP:0000811	Abnormal external genitalia	25836	NIPBL	ORPHA:199
HP:0000811	Abnormal external genitalia	25836	NIPBL	OMIM:122470
HP:0000811	Abnormal external genitalia	55869	HDAC8	ORPHA:199
HP:0000811	Abnormal external genitalia	5885	RAD21	ORPHA:199
HP:0000811	Abnormal external genitalia	10664	CTCF	ORPHA:363611
HP:0000811	Abnormal external genitalia	2100	ESR2	OMIM:618187
HP:0000811	Abnormal external genitalia	29957	SLC25A24	OMIM:612289
HP:0000811	Abnormal external genitalia	8626	TP63	OMIM:129400
HP:0000811	Abnormal external genitalia	9896	FIG4	ORPHA:3472
HP:0000811	Abnormal external genitalia	55697	VAC14	ORPHA:3472
HP:0000811	Abnormal external genitalia	89910	UBE3B	OMIM:244450
HP:0000811	Abnormal external genitalia	9427	ECEL1	OMIM:615065
HP:0000811	Abnormal external genitalia	4920	ROR2	OMIM:268310
HP:0000811	Abnormal external genitalia	145173	B3GLCT	OMIM:261540
HP:0000811	Abnormal external genitalia	145173	B3GLCT	ORPHA:709
HP:0000811	Abnormal external genitalia	55012	PPP2R3C	OMIM:618419
HP:0000811	Abnormal external genitalia	25886	POC1A	OMIM:614813
HP:0000811	Abnormal external genitalia	7148	TNXB	OMIM:606408
HP:0000811	Abnormal external genitalia	6913	TBX15	OMIM:260660
HP:0000811	Abnormal external genitalia	1588	CYP19A1	ORPHA:91
HP:0000811	Abnormal external genitalia	2737	GLI3	ORPHA:672
HP:0000811	Abnormal external genitalia	2737	GLI3	ORPHA:93322
HP:0000811	Abnormal external genitalia	6658	SOX3	ORPHA:393
HP:0000811	Abnormal external genitalia	341640	FREM2	ORPHA:2052
HP:0000811	Abnormal external genitalia	341640	FREM2	OMIM:617666
HP:0000811	Abnormal external genitalia	80144	FRAS1	ORPHA:2052
HP:0000811	Abnormal external genitalia	23426	GRIP1	ORPHA:2052
HP:0000811	Abnormal external genitalia	28981	IFT81	OMIM:617895
HP:0000811	Abnormal external genitalia	4750	NEK1	OMIM:263520
HP:0000811	Abnormal external genitalia	7026	NR2F2	OMIM:618901
HP:0000811	Abnormal external genitalia	2908	NR3C1	ORPHA:786
HP:0000811	Abnormal external genitalia	81839	VANGL1	ORPHA:3027
HP:0000811	Abnormal external genitalia	80199	FUZ	ORPHA:3027
HP:0000811	Abnormal external genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000811	Abnormal external genitalia	55112	DYNC2I1	OMIM:615503
HP:0000811	Abnormal external genitalia	57560	IFT80	ORPHA:93271
HP:0000811	Abnormal external genitalia	57539	WDR35	ORPHA:93271
HP:0000811	Abnormal external genitalia	79659	DYNC2H1	ORPHA:93271
HP:0000811	Abnormal external genitalia	79659	DYNC2H1	OMIM:613091
HP:0000811	Abnormal external genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000811	Abnormal external genitalia	117581	TWIST2	OMIM:200110
HP:0000811	Abnormal external genitalia	117581	TWIST2	ORPHA:920
HP:0000811	Abnormal external genitalia	1646	AKR1C2	OMIM:614279
HP:0000811	Abnormal external genitalia	1109	AKR1C4	OMIM:614279
HP:0000811	Abnormal external genitalia	54101	RIPK4	ORPHA:1234
HP:0000811	Abnormal external genitalia	54101	RIPK4	OMIM:263650
HP:0000811	Abnormal external genitalia	22858	CILK1	OMIM:612651
HP:0000811	Abnormal external genitalia	1584	CYP11B1	ORPHA:90795
HP:0000811	Abnormal external genitalia	170302	ARX	ORPHA:452
HP:0000811	Abnormal external genitalia	170302	ARX	OMIM:300215
HP:0000811	Abnormal external genitalia	2260	FGFR1	ORPHA:280200
HP:0000811	Abnormal external genitalia	28514	DLL1	ORPHA:280200
HP:0000811	Abnormal external genitalia	2253	FGF8	ORPHA:280200
HP:0000811	Abnormal external genitalia	6496	SIX3	ORPHA:280200
HP:0000811	Abnormal external genitalia	7050	TGIF1	ORPHA:280200
HP:0000811	Abnormal external genitalia	4838	NODAL	ORPHA:280200
HP:0000811	Abnormal external genitalia	6469	SHH	ORPHA:280200
HP:0000811	Abnormal external genitalia	51684	SUFU	ORPHA:280200
HP:0000811	Abnormal external genitalia	7546	ZIC2	ORPHA:280200
HP:0000811	Abnormal external genitalia	2619	GAS1	ORPHA:280200
HP:0000811	Abnormal external genitalia	84976	DISP1	ORPHA:280200
HP:0000811	Abnormal external genitalia	2736	GLI2	ORPHA:280200
HP:0000811	Abnormal external genitalia	8928	FOXH1	ORPHA:280200
HP:0000811	Abnormal external genitalia	5727	PTCH1	ORPHA:280200
HP:0000811	Abnormal external genitalia	50937	CDON	ORPHA:280200
HP:0000811	Abnormal external genitalia	7259	TSPYL1	ORPHA:168593
HP:0000811	Abnormal external genitalia	1108	CHD4	OMIM:617159
HP:0000811	Abnormal external genitalia	27077	B9D1	OMIM:614209
HP:0000811	Abnormal external genitalia	27077	B9D1	ORPHA:564
HP:0000811	Abnormal external genitalia	546	ATRX	ORPHA:847
HP:0000811	Abnormal external genitalia	84314	TMEM107	ORPHA:564
HP:0000811	Abnormal external genitalia	79867	TCTN2	ORPHA:564
HP:0000811	Abnormal external genitalia	79867	TCTN2	OMIM:613885
HP:0000811	Abnormal external genitalia	80776	B9D2	ORPHA:564
HP:0000811	Abnormal external genitalia	79600	TCTN1	ORPHA:564
HP:0000811	Abnormal external genitalia	57096	RPGRIP1	ORPHA:564
HP:0000811	Abnormal external genitalia	79848	CSPP1	ORPHA:564
HP:0000811	Abnormal external genitalia	80184	CEP290	ORPHA:564
HP:0000811	Abnormal external genitalia	51259	TMEM216	ORPHA:564
HP:0000811	Abnormal external genitalia	57545	CC2D2A	ORPHA:564
HP:0000811	Abnormal external genitalia	79583	TMEM231	ORPHA:564
HP:0000811	Abnormal external genitalia	91147	TMEM67	ORPHA:564
HP:0000811	Abnormal external genitalia	79770	TXNDC15	ORPHA:564
HP:0000811	Abnormal external genitalia	79770	TXNDC15	OMIM:619879
HP:0000811	Abnormal external genitalia	23322	RPGRIP1L	ORPHA:564
HP:0000811	Abnormal external genitalia	65062	TMEM237	ORPHA:564
HP:0000811	Abnormal external genitalia	9184	BUB3	ORPHA:1052
HP:0000811	Abnormal external genitalia	699	BUB1	ORPHA:1052
HP:0000811	Abnormal external genitalia	9702	CEP57	ORPHA:1052
HP:0000811	Abnormal external genitalia	9319	TRIP13	ORPHA:1052
HP:0000811	Abnormal external genitalia	701	BUB1B	ORPHA:1052
HP:0000811	Abnormal external genitalia	701	BUB1B	OMIM:257300
HP:0000811	Abnormal external genitalia	3293	HSD17B3	ORPHA:752
HP:0000811	Abnormal external genitalia	348180	CTU2	OMIM:618142
HP:0000811	Abnormal external genitalia	95681	CEP41	OMIM:614464
HP:0000811	Abnormal external genitalia	150468	CKAP2L	OMIM:272440
HP:0000811	Abnormal external genitalia	526	ATP6V1B2	ORPHA:79500
HP:0000811	Abnormal external genitalia	57465	TBC1D24	ORPHA:79500
HP:0000811	Abnormal external genitalia	1718	DHCR24	ORPHA:35107
HP:0000811	Abnormal external genitalia	374879	ZNF699	OMIM:619488
HP:0000811	Abnormal external genitalia	2232	FDXR	ORPHA:543470
HP:0000811	Abnormal external genitalia	10293	TRAIP	OMIM:616777
HP:0000811	Abnormal external genitalia	5080	PAX6	ORPHA:893
HP:0000811	Abnormal external genitalia	627	BDNF	ORPHA:893
HP:0000811	Abnormal external genitalia	153241	CEP120	OMIM:616300
HP:0000811	Abnormal external genitalia	3664	IRF6	ORPHA:1300
HP:0000811	Abnormal external genitalia	3239	HOXD13	ORPHA:887
HP:0000811	Abnormal external genitalia	29893	PSMC3IP	ORPHA:243
HP:0000811	Abnormal external genitalia	171568	POLR3H	ORPHA:243
HP:0000811	Abnormal external genitalia	125150	ZSWIM7	ORPHA:243
HP:0000811	Abnormal external genitalia	9210	BMP15	ORPHA:243
HP:0000811	Abnormal external genitalia	57122	NUP107	ORPHA:243
HP:0000811	Abnormal external genitalia	23514	SPIDR	ORPHA:243
HP:0000811	Abnormal external genitalia	2492	FSHR	ORPHA:243
HP:0000811	Abnormal external genitalia	56945	MRPS22	ORPHA:243
HP:0000811	Abnormal external genitalia	646	BNC1	ORPHA:243
HP:0000811	Abnormal external genitalia	1586	CYP17A1	OMIM:202110
HP:0000811	Abnormal external genitalia	5087	PBX1	OMIM:617641
HP:0000811	Abnormal external genitalia	6716	SRD5A2	ORPHA:753
HP:0000811	Abnormal external genitalia	471	ATIC	ORPHA:250977
HP:0000811	Abnormal external genitalia	471	ATIC	OMIM:608688
HP:0000811	Abnormal external genitalia	2571	GAD1	OMIM:619124
HP:0000811	Abnormal external genitalia	4998	ORC1	OMIM:224690
HP:0000811	Abnormal external genitalia	4998	ORC1	ORPHA:2554
HP:0000811	Abnormal external genitalia	1857	DVL3	ORPHA:3107
HP:0000811	Abnormal external genitalia	7474	WNT5A	ORPHA:3107
HP:0000811	Abnormal external genitalia	1855	DVL1	ORPHA:3107
HP:0000811	Abnormal external genitalia	22931	RAB18	OMIM:614222
HP:0000811	Abnormal external genitalia	22931	RAB18	ORPHA:2510
HP:0000811	Abnormal external genitalia	60	ACTB	ORPHA:64755
HP:0000811	Abnormal external genitalia	26040	SETBP1	OMIM:269150
HP:0000811	Abnormal external genitalia	23594	ORC6	OMIM:613803
HP:0000811	Abnormal external genitalia	23594	ORC6	ORPHA:2554
HP:0000811	Abnormal external genitalia	81620	CDT1	ORPHA:2554
HP:0000811	Abnormal external genitalia	8318	CDC45	ORPHA:2554
HP:0000811	Abnormal external genitalia	990	CDC6	ORPHA:2554
HP:0000811	Abnormal external genitalia	51053	GMNN	ORPHA:2554
HP:0000811	Abnormal external genitalia	25782	RAB3GAP2	ORPHA:2510
HP:0000811	Abnormal external genitalia	128637	TBC1D20	ORPHA:2510
HP:0000811	Abnormal external genitalia	57061	HYMAI	ORPHA:96191
HP:0000811	Abnormal external genitalia	5325	PLAGL1	ORPHA:96191
HP:0000811	Abnormal external genitalia	2535	FZD2	OMIM:164745
HP:0000811	Abnormal external genitalia	10236	HNRNPR	OMIM:620073
HP:0000811	Abnormal external genitalia	6595	SMARCA2	OMIM:619293
HP:0000811	Abnormal external genitalia	64840	PORCN	OMIM:305600
HP:0000811	Abnormal external genitalia	367	AR	OMIM:300068
HP:0000811	Abnormal external genitalia	92002	CCNQ	ORPHA:140952
HP:0000811	Abnormal external genitalia	92002	CCNQ	OMIM:300707
HP:0000811	Abnormal external genitalia	23522	KAT6B	OMIM:606170
HP:0000811	Abnormal external genitalia	5000	ORC4	OMIM:613800
HP:0000811	Abnormal external genitalia	9723	SEMA3E	ORPHA:138
HP:0000811	Abnormal external genitalia	3209	HOXA13	OMIM:176305
HP:0000811	Abnormal external genitalia	389827	MYMK	ORPHA:1358
HP:0000811	Abnormal external genitalia	101929726	MYMX	ORPHA:1358
HP:0000811	Abnormal external genitalia	1717	DHCR7	OMIM:270400
HP:0000811	Abnormal external genitalia	372	ARCN1	OMIM:617164
HP:0000811	Abnormal external genitalia	10584	COLEC10	OMIM:248340
HP:0000811	Abnormal external genitalia	1009	CDH11	ORPHA:1299
HP:0000811	Abnormal external genitalia	1009	CDH11	OMIM:211380
HP:0000811	Abnormal external genitalia	283120	H19	ORPHA:231140
HP:0000811	Abnormal external genitalia	3782	KCNN3	ORPHA:3473
HP:0000811	Abnormal external genitalia	1585	CYP11B2	ORPHA:556030
HP:0000811	Abnormal external genitalia	55612	FERMT1	OMIM:173650
HP:0000811	Abnormal external genitalia	55612	FERMT1	ORPHA:2908
HP:0000811	Abnormal external genitalia	242	ALOX12B	OMIM:242100
HP:0000811	Abnormal external genitalia	59344	ALOXE3	OMIM:242100
HP:0000811	Abnormal external genitalia	23347	SMCHD1	ORPHA:2250
HP:0000811	Abnormal external genitalia	11020	IFT27	OMIM:615996
HP:0000811	Abnormal external genitalia	10806	SDCCAG8	OMIM:615993
HP:0000811	Abnormal external genitalia	9791	PTDSS1	ORPHA:2658
HP:0000811	Abnormal external genitalia	23314	SATB2	ORPHA:251028
HP:0000811	Abnormal external genitalia	8818	DPM2	ORPHA:329178
HP:0000811	Abnormal external genitalia	80152	CENPT	OMIM:618702
HP:0000811	Abnormal external genitalia	5189	PEX1	ORPHA:3220
HP:0000811	Abnormal external genitalia	5190	PEX6	ORPHA:3220
HP:0000811	Abnormal external genitalia	7681	MKRN3	OMIM:176270
HP:0000811	Abnormal external genitalia	3653	IPW	OMIM:176270
HP:0000811	Abnormal external genitalia	54551	MAGEL2	OMIM:176270
HP:0000811	Abnormal external genitalia	54551	MAGEL2	ORPHA:98754
HP:0000811	Abnormal external genitalia	54551	MAGEL2	ORPHA:177904
HP:0000811	Abnormal external genitalia	54551	MAGEL2	ORPHA:177901
HP:0000811	Abnormal external genitalia	54551	MAGEL2	ORPHA:398069
HP:0000811	Abnormal external genitalia	54551	MAGEL2	ORPHA:177910
HP:0000811	Abnormal external genitalia	791114	PWRN1	OMIM:176270
HP:0000811	Abnormal external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0000811	Abnormal external genitalia	8924	HERC2	OMIM:176270
HP:0000811	Abnormal external genitalia	145624	PWAR1	OMIM:176270
HP:0000811	Abnormal external genitalia	23742	NPAP1	OMIM:176270
HP:0000811	Abnormal external genitalia	338433	SNORD115-1	OMIM:176270
HP:0000811	Abnormal external genitalia	51715	RAB23	OMIM:201000
HP:0000811	Abnormal external genitalia	51715	RAB23	ORPHA:65759
HP:0000811	Abnormal external genitalia	51124	IER3IP1	OMIM:614231
HP:0000811	Abnormal external genitalia	6492	SIM1	ORPHA:398079
HP:0000811	Abnormal external genitalia	57492	ARID1B	ORPHA:251056
HP:0000811	Abnormal external genitalia	7841	MOGS	ORPHA:79330
HP:0000811	Abnormal external genitalia	388015	RTL1	ORPHA:96334
HP:0000811	Abnormal external genitalia	8788	DLK1	ORPHA:96334
HP:0000811	Abnormal external genitalia	55384	MEG3	ORPHA:96334
HP:0000811	Abnormal external genitalia	6638	SNRPN	ORPHA:98754
HP:0000811	Abnormal external genitalia	6638	SNRPN	ORPHA:177904
HP:0000811	Abnormal external genitalia	6638	SNRPN	ORPHA:177901
HP:0000811	Abnormal external genitalia	6638	SNRPN	ORPHA:177910
HP:0000811	Abnormal external genitalia	6638	SNRPN	ORPHA:177907
HP:0000811	Abnormal external genitalia	4692	NDN	ORPHA:98754
HP:0000811	Abnormal external genitalia	4692	NDN	ORPHA:177904
HP:0000811	Abnormal external genitalia	4692	NDN	ORPHA:177901
HP:0000811	Abnormal external genitalia	4692	NDN	ORPHA:177910
HP:0000811	Abnormal external genitalia	4948	OCA2	ORPHA:98754
HP:0000811	Abnormal external genitalia	4948	OCA2	ORPHA:177904
HP:0000811	Abnormal external genitalia	4948	OCA2	ORPHA:177901
HP:0000811	Abnormal external genitalia	5889	RAD51C	OMIM:613390
HP:0000811	Abnormal external genitalia	22930	RAB3GAP1	OMIM:600118
HP:0000811	Abnormal external genitalia	1968	EIF2S3	ORPHA:85282
HP:0000811	Abnormal external genitalia	284654	RSPO1	OMIM:610644
HP:0000811	Abnormal external genitalia	8813	DPM1	ORPHA:79322
HP:0000811	Abnormal external genitalia	84100	ARL6	OMIM:600151
HP:0000811	Abnormal external genitalia	54903	MKS1	OMIM:249000
HP:0000811	Abnormal external genitalia	583	BBS2	OMIM:615981
HP:0000811	Abnormal external genitalia	585	BBS4	OMIM:615982
HP:0000811	Abnormal external genitalia	129880	BBS5	OMIM:615983
HP:0000811	Abnormal external genitalia	55636	CHD7	OMIM:214800
HP:0000811	Abnormal external genitalia	1954	MEGF8	ORPHA:65759
HP:0000811	Abnormal external genitalia	8195	MKKS	OMIM:605231
HP:0000811	Abnormal external genitalia	64374	SIL1	ORPHA:559
HP:0000811	Abnormal external genitalia	51763	INPP5K	ORPHA:559
HP:0000811	Abnormal external genitalia	4089	SMAD4	ORPHA:2588
HP:0000811	Abnormal external genitalia	3187	HNRNPH1	OMIM:620083
HP:0000811	Abnormal external genitalia	57724	EPG5	OMIM:242840
HP:0000811	Abnormal external genitalia	10046	MAMLD1	ORPHA:456328
HP:0000811	Abnormal external genitalia	4534	MTM1	ORPHA:456328
HP:0000811	Abnormal external genitalia	2263	FGFR2	ORPHA:1555
HP:0000811	Abnormal external genitalia	2263	FGFR2	OMIM:123790
HP:0000811	Abnormal external genitalia	3643	INSR	ORPHA:508
HP:0000811	Abnormal external genitalia	5468	PPARG	ORPHA:528
HP:0000811	Abnormal external genitalia	10555	AGPAT2	ORPHA:528
HP:0000811	Abnormal external genitalia	284119	CAVIN1	ORPHA:528
HP:0000811	Abnormal external genitalia	26580	BSCL2	ORPHA:528
HP:0000811	Abnormal external genitalia	2353	FOS	ORPHA:528
HP:0000811	Abnormal external genitalia	857	CAV1	ORPHA:528
HP:0000811	Abnormal external genitalia	1028	CDKN1C	OMIM:130650
HP:0000811	Abnormal external genitalia	10984	KCNQ1OT1	OMIM:130650
HP:0000811	Abnormal external genitalia	3784	KCNQ1	OMIM:130650
HP:0000811	Abnormal external genitalia	6794	STK11	OMIM:175200
HP:0000811	Abnormal external genitalia	2332	FMR1	OMIM:300624
HP:0000811	Abnormal external genitalia	3476	IGBP1	OMIM:300472
HP:0000811	Abnormal external genitalia	2245	FGD1	OMIM:305400
HP:0000811	Abnormal external genitalia	1387	CREBBP	OMIM:180849
HP:0000811	Abnormal external genitalia	2033	EP300	OMIM:180849
HP:0000811	Abnormal external genitalia	26137	ZBTB20	OMIM:259050
HP:0000811	Abnormal external genitalia	26137	ZBTB20	ORPHA:3042
HP:0000811	Abnormal external genitalia	55610	VPS50	OMIM:619685
HP:0000811	Abnormal external genitalia	2222	FDFT1	OMIM:618156
HP:0000811	Abnormal external genitalia	4953	ODC1	ORPHA:544488
HP:0000811	Abnormal external genitalia	7291	TWIST1	OMIM:617746
HP:0000811	Abnormal external genitalia	50485	SMARCAL1	OMIM:242900
HP:0000811	Abnormal external genitalia	10667	FARS2	ORPHA:466722
HP:0000811	Abnormal external genitalia	4841	NONO	ORPHA:466791
HP:0000811	Abnormal external genitalia	55870	ASH1L	OMIM:617796
HP:0000811	Abnormal external genitalia	7994	KAT6A	OMIM:616268
HP:0000811	Abnormal external genitalia	5648	MASP1	ORPHA:293843
HP:0000811	Abnormal external genitalia	78989	COLEC11	ORPHA:293843
HP:0000811	Abnormal external genitalia	5147	PDE6D	ORPHA:2754
HP:0000811	Abnormal external genitalia	65250	CPLANE1	ORPHA:2754
HP:0000811	Abnormal external genitalia	317662	FAM149B1	ORPHA:2754
HP:0000811	Abnormal external genitalia	404672	GTF2H5	OMIM:616395
HP:0000811	Abnormal external genitalia	22884	WDR37	OMIM:618652
HP:0000811	Abnormal external genitalia	4174	MCM5	OMIM:617564
HP:0000811	Abnormal external genitalia	4081	MAB21L1	OMIM:618479
HP:0000811	Abnormal external genitalia	81848	SPRY4	ORPHA:432
HP:0000811	Abnormal external genitalia	81848	SPRY4	OMIM:146110
HP:0000811	Abnormal external genitalia	81848	SPRY4	ORPHA:478
HP:0000811	Abnormal external genitalia	128674	PROKR2	ORPHA:432
HP:0000811	Abnormal external genitalia	128674	PROKR2	ORPHA:478
HP:0000811	Abnormal external genitalia	60675	PROK2	ORPHA:432
HP:0000811	Abnormal external genitalia	60675	PROK2	OMIM:610628
HP:0000811	Abnormal external genitalia	60675	PROK2	ORPHA:478
HP:0000811	Abnormal external genitalia	1848	DUSP6	ORPHA:432
HP:0000811	Abnormal external genitalia	1848	DUSP6	OMIM:146110
HP:0000811	Abnormal external genitalia	1848	DUSP6	ORPHA:478
HP:0000811	Abnormal external genitalia	26012	NSMF	ORPHA:432
HP:0000811	Abnormal external genitalia	26012	NSMF	OMIM:614838
HP:0000811	Abnormal external genitalia	55717	WDR11	ORPHA:432
HP:0000811	Abnormal external genitalia	55717	WDR11	OMIM:146110
HP:0000811	Abnormal external genitalia	55717	WDR11	OMIM:614858
HP:0000811	Abnormal external genitalia	55717	WDR11	ORPHA:478
HP:0000811	Abnormal external genitalia	9394	HS6ST1	ORPHA:432
HP:0000811	Abnormal external genitalia	9394	HS6ST1	OMIM:614880
HP:0000811	Abnormal external genitalia	9394	HS6ST1	ORPHA:478
HP:0000811	Abnormal external genitalia	2796	GNRH1	ORPHA:432
HP:0000811	Abnormal external genitalia	2796	GNRH1	OMIM:614841
HP:0000811	Abnormal external genitalia	2796	GNRH1	OMIM:146110
HP:0000811	Abnormal external genitalia	2798	GNRHR	ORPHA:432
HP:0000811	Abnormal external genitalia	2798	GNRHR	OMIM:146110
HP:0000811	Abnormal external genitalia	84634	KISS1R	ORPHA:432
HP:0000811	Abnormal external genitalia	84634	KISS1R	OMIM:614837
HP:0000811	Abnormal external genitalia	6866	TAC3	ORPHA:432
HP:0000811	Abnormal external genitalia	8822	FGF17	ORPHA:432
HP:0000811	Abnormal external genitalia	8822	FGF17	OMIM:146110
HP:0000811	Abnormal external genitalia	8822	FGF17	ORPHA:478
HP:0000811	Abnormal external genitalia	3814	KISS1	ORPHA:432
HP:0000811	Abnormal external genitalia	8450	CUL4B	OMIM:300354
HP:0000811	Abnormal external genitalia	8450	CUL4B	ORPHA:85293
HP:0000811	Abnormal external genitalia	3763	KCNJ6	ORPHA:435628
HP:0000811	Abnormal external genitalia	6134	RPL10	OMIM:300998
HP:0000811	Abnormal external genitalia	6134	RPL10	ORPHA:459070
HP:0000811	Abnormal external genitalia	8473	OGT	OMIM:300997
HP:0000811	Abnormal external genitalia	84515	MCM8	OMIM:612885
HP:0000811	Abnormal external genitalia	1736	DKC1	OMIM:305000
HP:0000811	Abnormal external genitalia	1131	CHRM3	ORPHA:2970
HP:0000811	Abnormal external genitalia	2200	FBN1	ORPHA:284979
HP:0000811	Abnormal external genitalia	7258	TSPY1	ORPHA:1646
HP:0000811	Abnormal external genitalia	57055	DAZ2	ORPHA:1646
HP:0000811	Abnormal external genitalia	57135	DAZ4	ORPHA:1646
HP:0000811	Abnormal external genitalia	8287	USP9Y	ORPHA:1646
HP:0000811	Abnormal external genitalia	5940	RBMY1A1	ORPHA:1646
HP:0000811	Abnormal external genitalia	57054	DAZ3	ORPHA:1646
HP:0000811	Abnormal external genitalia	8653	DDX3Y	ORPHA:1646
HP:0000811	Abnormal external genitalia	1617	DAZ1	ORPHA:1646
HP:0000811	Abnormal external genitalia	10084	PQBP1	ORPHA:93950
HP:0000811	Abnormal external genitalia	10084	PQBP1	OMIM:309500
HP:0000811	Abnormal external genitalia	9150	CTDP1	OMIM:604168
HP:0000811	Abnormal external genitalia	201134	CEP112	OMIM:619044
HP:0000811	Abnormal external genitalia	8882	ZPR1	OMIM:619321
HP:0000811	Abnormal external genitalia	131118	DNAJC19	OMIM:610198
HP:0000811	Abnormal external genitalia	140801	RPL10L	OMIM:619689
HP:0000811	Abnormal external genitalia	3952	LEP	ORPHA:66628
HP:0000811	Abnormal external genitalia	3952	LEP	OMIM:614962
HP:0000811	Abnormal external genitalia	7298	TYMS	OMIM:620040
HP:0000811	Abnormal external genitalia	51132	RLIM	OMIM:300978
HP:0000811	Abnormal external genitalia	57697	FANCM	OMIM:618086
HP:0000811	Abnormal external genitalia	57697	FANCM	ORPHA:399805
HP:0000811	Abnormal external genitalia	8260	NAA10	OMIM:300855
HP:0000811	Abnormal external genitalia	79140	CCDC28B	OMIM:209900
HP:0000811	Abnormal external genitalia	582	BBS1	OMIM:209900
HP:0000811	Abnormal external genitalia	79184	BRCC3	ORPHA:280679
HP:0000811	Abnormal external genitalia	9820	CUL7	OMIM:273750
HP:0000811	Abnormal external genitalia	23116	TOGARAM1	OMIM:619185
HP:0000811	Abnormal external genitalia	55630	SLC39A4	OMIM:201100
HP:0000811	Abnormal external genitalia	23312	DMXL2	OMIM:616113
HP:0000811	Abnormal external genitalia	23312	DMXL2	ORPHA:453533
HP:0000811	Abnormal external genitalia	56154	TEX15	OMIM:617960
HP:0000811	Abnormal external genitalia	56154	TEX15	ORPHA:399805
HP:0000811	Abnormal external genitalia	6885	MAP3K7	OMIM:157800
HP:0000811	Abnormal external genitalia	558	AXL	OMIM:146110
HP:0000811	Abnormal external genitalia	10011	SRA1	OMIM:146110
HP:0000811	Abnormal external genitalia	285025	CCDC141	OMIM:146110
HP:0000811	Abnormal external genitalia	285025	CCDC141	ORPHA:478
HP:0000811	Abnormal external genitalia	389549	FEZF1	OMIM:146110
HP:0000811	Abnormal external genitalia	389549	FEZF1	OMIM:616030
HP:0000811	Abnormal external genitalia	389549	FEZF1	ORPHA:478
HP:0000811	Abnormal external genitalia	3953	LEPR	ORPHA:179494
HP:0000811	Abnormal external genitalia	340719	NANOS1	ORPHA:399808
HP:0000811	Abnormal external genitalia	340719	NANOS1	ORPHA:399805
HP:0000811	Abnormal external genitalia	7737	RNF113A	OMIM:300953
HP:0000811	Abnormal external genitalia	80067	DCAF17	ORPHA:3464
HP:0000811	Abnormal external genitalia	80067	DCAF17	OMIM:241080
HP:0000811	Abnormal external genitalia	5626	PROP1	ORPHA:95494
HP:0000811	Abnormal external genitalia	5626	PROP1	ORPHA:90695
HP:0000811	Abnormal external genitalia	89884	LHX4	ORPHA:95494
HP:0000811	Abnormal external genitalia	3170	FOXA2	ORPHA:95494
HP:0000811	Abnormal external genitalia	5449	POU1F1	ORPHA:95494
HP:0000811	Abnormal external genitalia	8820	HESX1	ORPHA:95494
HP:0000811	Abnormal external genitalia	8820	HESX1	ORPHA:478
HP:0000811	Abnormal external genitalia	5015	OTX2	ORPHA:95494
HP:0000811	Abnormal external genitalia	11041	B4GAT1	OMIM:615287
HP:0000811	Abnormal external genitalia	26227	PHGDH	OMIM:601815
HP:0000811	Abnormal external genitalia	154197	PNLDC1	OMIM:619528
HP:0000811	Abnormal external genitalia	154197	PNLDC1	ORPHA:399805
HP:0000811	Abnormal external genitalia	57704	GBA2	ORPHA:320391
HP:0000811	Abnormal external genitalia	5422	POLA1	ORPHA:163976
HP:0000811	Abnormal external genitalia	6875	TAF4B	ORPHA:399805
HP:0000811	Abnormal external genitalia	56155	TEX14	ORPHA:399805
HP:0000811	Abnormal external genitalia	7516	XRCC2	ORPHA:399805
HP:0000811	Abnormal external genitalia	7516	XRCC2	OMIM:619145
HP:0000811	Abnormal external genitalia	254528	MEIOB	ORPHA:399805
HP:0000811	Abnormal external genitalia	91057	CCDC34	ORPHA:399805
HP:0000811	Abnormal external genitalia	317719	KLHL10	ORPHA:399805
HP:0000811	Abnormal external genitalia	56159	TEX11	ORPHA:399805
HP:0000811	Abnormal external genitalia	1080	CFTR	ORPHA:399805
HP:0000811	Abnormal external genitalia	84225	ZMYND15	ORPHA:399805
HP:0000811	Abnormal external genitalia	122402	TDRD9	ORPHA:399805
HP:0000811	Abnormal external genitalia	93426	SYCE1	ORPHA:399805
HP:0000811	Abnormal external genitalia	50511	SYCP3	ORPHA:399805
HP:0000811	Abnormal external genitalia	5373	PMM2	ORPHA:79318
HP:0000811	Abnormal external genitalia	8242	KDM5C	OMIM:300534
HP:0000811	Abnormal external genitalia	8242	KDM5C	ORPHA:85279
HP:0000811	Abnormal external genitalia	51360	MBTPS2	ORPHA:85284
HP:0000811	Abnormal external genitalia	23133	PHF8	ORPHA:85287
HP:0000811	Abnormal external genitalia	55315	SLC29A3	ORPHA:168569
HP:0000811	Abnormal external genitalia	10371	SEMA3A	OMIM:614897
HP:0000811	Abnormal external genitalia	10371	SEMA3A	ORPHA:478
HP:0000811	Abnormal external genitalia	63901	FAM111A	ORPHA:93325
HP:0000811	Abnormal external genitalia	23767	FLRT3	ORPHA:478
HP:0000811	Abnormal external genitalia	79625	NDNF	ORPHA:478
HP:0000811	Abnormal external genitalia	1630	DCC	ORPHA:478
HP:0000811	Abnormal external genitalia	54756	IL17RD	ORPHA:478
HP:0000811	Abnormal external genitalia	6663	SOX10	ORPHA:478
HP:0000811	Abnormal external genitalia	7507	XPA	ORPHA:910
HP:0000811	Abnormal external genitalia	2071	ERCC3	ORPHA:910
HP:0000811	Abnormal external genitalia	7508	XPC	ORPHA:910
HP:0000811	Abnormal external genitalia	1643	DDB2	ORPHA:910
HP:0000811	Abnormal external genitalia	2072	ERCC4	ORPHA:910
HP:0000811	Abnormal external genitalia	2073	ERCC5	ORPHA:910
HP:0000811	Abnormal external genitalia	92840	REEP6	ORPHA:791
HP:0000811	Abnormal external genitalia	6094	ROM1	ORPHA:791
HP:0000811	Abnormal external genitalia	6017	RLBP1	ORPHA:791
HP:0000811	Abnormal external genitalia	7401	CLRN1	ORPHA:791
HP:0000811	Abnormal external genitalia	24	ABCA4	ORPHA:791
HP:0000811	Abnormal external genitalia	130557	ZNF513	ORPHA:791
HP:0000811	Abnormal external genitalia	92211	CDHR1	ORPHA:791
HP:0000811	Abnormal external genitalia	23568	ARL2BP	ORPHA:791
HP:0000811	Abnormal external genitalia	6121	RPE65	ORPHA:791
HP:0000811	Abnormal external genitalia	54806	AHI1	ORPHA:791
HP:0000811	Abnormal external genitalia	6101	RP1	ORPHA:791
HP:0000811	Abnormal external genitalia	3419	IDH3A	ORPHA:791
HP:0000811	Abnormal external genitalia	4751	NEK2	ORPHA:791
HP:0000811	Abnormal external genitalia	346007	EYS	ORPHA:791
HP:0000811	Abnormal external genitalia	8100	IFT88	ORPHA:791
HP:0000811	Abnormal external genitalia	23020	SNRNP200	ORPHA:791
HP:0000811	Abnormal external genitalia	762	CA4	ORPHA:791
HP:0000811	Abnormal external genitalia	138050	HGSNAT	ORPHA:791
HP:0000811	Abnormal external genitalia	196	AHR	ORPHA:791
HP:0000811	Abnormal external genitalia	3614	IMPDH1	ORPHA:791
HP:0000811	Abnormal external genitalia	123016	TTC8	ORPHA:791
HP:0000811	Abnormal external genitalia	123016	TTC8	ORPHA:110
HP:0000811	Abnormal external genitalia	6103	RPGR	ORPHA:791
HP:0000811	Abnormal external genitalia	1406	CRX	ORPHA:791
HP:0000811	Abnormal external genitalia	5148	PDE6G	ORPHA:791
HP:0000811	Abnormal external genitalia	26160	IFT172	ORPHA:791
HP:0000811	Abnormal external genitalia	26160	IFT172	ORPHA:110
HP:0000811	Abnormal external genitalia	26121	PRPF31	ORPHA:791
HP:0000811	Abnormal external genitalia	4117	MAK	ORPHA:791
HP:0000811	Abnormal external genitalia	25794	FSCN2	ORPHA:791
HP:0000811	Abnormal external genitalia	375298	CERKL	ORPHA:791
HP:0000811	Abnormal external genitalia	3420	IDH3B	ORPHA:791
HP:0000811	Abnormal external genitalia	57670	KIAA1549	ORPHA:791
HP:0000811	Abnormal external genitalia	7275	TUB	ORPHA:791
HP:0000811	Abnormal external genitalia	24148	PRPF6	ORPHA:791
HP:0000811	Abnormal external genitalia	23418	CRB1	ORPHA:791
HP:0000811	Abnormal external genitalia	10461	MERTK	ORPHA:791
HP:0000811	Abnormal external genitalia	57709	SLC7A14	ORPHA:791
HP:0000811	Abnormal external genitalia	768206	PRCD	ORPHA:791
HP:0000811	Abnormal external genitalia	7399	USH2A	ORPHA:791
HP:0000811	Abnormal external genitalia	23370	ARHGEF18	ORPHA:791
HP:0000811	Abnormal external genitalia	5949	RBP3	ORPHA:791
HP:0000811	Abnormal external genitalia	6010	RHO	ORPHA:791
HP:0000811	Abnormal external genitalia	6100	RP9	ORPHA:791
HP:0000811	Abnormal external genitalia	10002	NR2E3	ORPHA:791
HP:0000811	Abnormal external genitalia	9227	LRAT	ORPHA:791
HP:0000811	Abnormal external genitalia	84140	FAM161A	ORPHA:791
HP:0000811	Abnormal external genitalia	55812	SPATA7	ORPHA:791
HP:0000811	Abnormal external genitalia	55624	POMGNT1	ORPHA:791
HP:0000811	Abnormal external genitalia	55624	POMGNT1	ORPHA:899
HP:0000811	Abnormal external genitalia	79797	ZNF408	ORPHA:791
HP:0000811	Abnormal external genitalia	403	ARL3	ORPHA:791
HP:0000811	Abnormal external genitalia	5145	PDE6A	ORPHA:791
HP:0000811	Abnormal external genitalia	10210	TOPORS	ORPHA:791
HP:0000811	Abnormal external genitalia	8842	PROM1	ORPHA:791
HP:0000811	Abnormal external genitalia	9128	PRPF4	ORPHA:791
HP:0000811	Abnormal external genitalia	145226	RDH12	ORPHA:791
HP:0000811	Abnormal external genitalia	50939	IMPG2	ORPHA:791
HP:0000811	Abnormal external genitalia	8481	OFD1	ORPHA:791
HP:0000811	Abnormal external genitalia	49855	SCAPER	ORPHA:791
HP:0000811	Abnormal external genitalia	49855	SCAPER	ORPHA:110
HP:0000811	Abnormal external genitalia	9742	IFT140	ORPHA:791
HP:0000811	Abnormal external genitalia	2979	GUCA1B	ORPHA:791
HP:0000811	Abnormal external genitalia	1259	CNGA1	ORPHA:791
HP:0000811	Abnormal external genitalia	1258	CNGB1	ORPHA:791
HP:0000811	Abnormal external genitalia	60509	AGBL5	ORPHA:791
HP:0000811	Abnormal external genitalia	5961	PRPH2	ORPHA:791
HP:0000811	Abnormal external genitalia	388939	PCARE	ORPHA:791
HP:0000811	Abnormal external genitalia	7439	BEST1	ORPHA:791
HP:0000811	Abnormal external genitalia	9785	DHX38	ORPHA:791
HP:0000811	Abnormal external genitalia	7287	TULP1	ORPHA:791
HP:0000811	Abnormal external genitalia	5995	RGR	ORPHA:791
HP:0000811	Abnormal external genitalia	9129	PRPF3	ORPHA:791
HP:0000811	Abnormal external genitalia	55975	KLHL7	ORPHA:791
HP:0000811	Abnormal external genitalia	3617	IMPG1	ORPHA:791
HP:0000811	Abnormal external genitalia	94137	RP1L1	ORPHA:791
HP:0000811	Abnormal external genitalia	5158	PDE6B	ORPHA:791
HP:0000811	Abnormal external genitalia	6102	RP2	ORPHA:791
HP:0000811	Abnormal external genitalia	55857	KIZ	ORPHA:791
HP:0000811	Abnormal external genitalia	64218	SEMA4A	ORPHA:791
HP:0000811	Abnormal external genitalia	4901	NRL	ORPHA:791
HP:0000811	Abnormal external genitalia	157657	CFAP418	ORPHA:791
HP:0000811	Abnormal external genitalia	157657	CFAP418	ORPHA:110
HP:0000811	Abnormal external genitalia	10594	PRPF8	ORPHA:791
HP:0000811	Abnormal external genitalia	6295	SAG	ORPHA:791
HP:0000811	Abnormal external genitalia	79947	DHDDS	ORPHA:791
HP:0000811	Abnormal external genitalia	6309	SC5D	ORPHA:46059
HP:0000811	Abnormal external genitalia	7518	XRCC4	ORPHA:99812
HP:0000811	Abnormal external genitalia	3981	LIG4	ORPHA:99812
HP:0000811	Abnormal external genitalia	55777	MBD5	ORPHA:228402
HP:0000811	Abnormal external genitalia	79813	EHMT1	ORPHA:96147
HP:0000811	Abnormal external genitalia	6905	TBCE	ORPHA:2323
HP:0000811	Abnormal external genitalia	8085	KMT2D	ORPHA:2322
HP:0000811	Abnormal external genitalia	7403	KDM6A	ORPHA:2322
HP:0000811	Abnormal external genitalia	129563	DIS3L2	ORPHA:2849
HP:0000811	Abnormal external genitalia	84892	POMGNT2	ORPHA:899
HP:0000811	Abnormal external genitalia	148789	B3GALNT2	ORPHA:899
HP:0000811	Abnormal external genitalia	79147	FKRP	ORPHA:899
HP:0000811	Abnormal external genitalia	29954	POMT2	ORPHA:899
HP:0000811	Abnormal external genitalia	9215	LARGE1	ORPHA:899
HP:0000811	Abnormal external genitalia	1282	COL4A1	ORPHA:899
HP:0000811	Abnormal external genitalia	729920	CRPPA	ORPHA:899
HP:0000811	Abnormal external genitalia	10329	RXYLT1	ORPHA:899
HP:0000811	Abnormal external genitalia	1605	DAG1	ORPHA:899
HP:0000811	Abnormal external genitalia	10585	POMT1	ORPHA:899
HP:0000811	Abnormal external genitalia	84197	POMK	ORPHA:899
HP:0000811	Abnormal external genitalia	2218	FKTN	ORPHA:899
HP:0000811	Abnormal external genitalia	6657	SOX2	ORPHA:77298
HP:0000811	Abnormal external genitalia	6657	SOX2	ORPHA:3157
HP:0000811	Abnormal external genitalia	64359	NXN	ORPHA:1507
HP:0000811	Abnormal external genitalia	3670	ISL1	ORPHA:93930
HP:0000811	Abnormal external genitalia	197131	UBR1	ORPHA:2315
HP:0000811	Abnormal external genitalia	92482	BBIP1	ORPHA:110
HP:0000811	Abnormal external genitalia	4867	NPHP1	ORPHA:110
HP:0000811	Abnormal external genitalia	51057	WDPCP	ORPHA:110
HP:0000811	Abnormal external genitalia	27241	BBS9	ORPHA:110
HP:0000811	Abnormal external genitalia	84984	CEP19	ORPHA:110
HP:0000811	Abnormal external genitalia	22954	TRIM32	ORPHA:110
HP:0000811	Abnormal external genitalia	79738	BBS10	ORPHA:110
HP:0000811	Abnormal external genitalia	54585	LZTFL1	ORPHA:110
HP:0000811	Abnormal external genitalia	55212	BBS7	ORPHA:110
HP:0000811	Abnormal external genitalia	166379	BBS12	ORPHA:110
HP:0000811	Abnormal external genitalia	80173	IFT74	ORPHA:110
HP:0000811	Abnormal external genitalia	5396	PRRX1	ORPHA:990
HP:0000811	Abnormal external genitalia	5048	PAFAH1B1	ORPHA:217385
HP:0000811	Abnormal external genitalia	7531	YWHAE	ORPHA:217385
HP:0000811	Abnormal external genitalia	6804	STX1A	ORPHA:904
HP:0000811	Abnormal external genitalia	7461	CLIP2	ORPHA:904
HP:0000811	Abnormal external genitalia	84277	DNAJC30	ORPHA:904
HP:0000811	Abnormal external genitalia	8468	FKBP6	ORPHA:904
HP:0000811	Abnormal external genitalia	5982	RFC2	ORPHA:904
HP:0000811	Abnormal external genitalia	2969	GTF2I	ORPHA:904
HP:0000811	Abnormal external genitalia	3984	LIMK1	ORPHA:904
HP:0000811	Abnormal external genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000811	Abnormal external genitalia	155382	VPS37D	ORPHA:904
HP:0000811	Abnormal external genitalia	155368	METTL27	ORPHA:904
HP:0000811	Abnormal external genitalia	114049	BUD23	ORPHA:904
HP:0000811	Abnormal external genitalia	7458	EIF4H	ORPHA:904
HP:0000811	Abnormal external genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000811	Abnormal external genitalia	9275	BCL7B	ORPHA:904
HP:0000811	Abnormal external genitalia	26608	TBL2	ORPHA:904
HP:0000811	Abnormal external genitalia	653361	NCF1	ORPHA:904
HP:0000811	Abnormal external genitalia	135886	TMEM270	ORPHA:904
HP:0000811	Abnormal external genitalia	51085	MLXIPL	ORPHA:904
HP:0000811	Abnormal external genitalia	9031	BAZ1B	ORPHA:904
HP:0000811	Abnormal external genitalia	2006	ELN	ORPHA:904
HP:0000811	Abnormal external genitalia	5590	PRKCZ	ORPHA:1606
HP:0000811	Abnormal external genitalia	2563	GABRD	ORPHA:1606
HP:0000811	Abnormal external genitalia	23013	SPEN	ORPHA:1606
HP:0000811	Abnormal external genitalia	8510	MMP23B	ORPHA:1606
HP:0000811	Abnormal external genitalia	7798	LUZP1	ORPHA:1606
HP:0000811	Abnormal external genitalia	6497	SKI	ORPHA:1606
HP:0000811	Abnormal external genitalia	10630	PDPN	ORPHA:1606
HP:0000811	Abnormal external genitalia	10277	UBE4B	ORPHA:1606
HP:0000811	Abnormal external genitalia	8514	KCNAB2	ORPHA:1606
HP:0000811	Abnormal external genitalia	473	RERE	ORPHA:1606
HP:0000811	Abnormal external genitalia	63976	PRDM16	ORPHA:1606
HP:0000811	Abnormal external genitalia	54897	CASZ1	ORPHA:1606
HP:0000811	Abnormal external genitalia	286	ANK1	ORPHA:251066
HP:0000811	Abnormal external genitalia	6091	ROBO1	ORPHA:95496
HP:0000811	Abnormal external genitalia	23432	GPR161	ORPHA:95496
HP:0000811	Abnormal external genitalia	6299	SALL1	ORPHA:857
HP:0000811	Abnormal external genitalia	51339	DACT1	ORPHA:857
HP:0000811	Abnormal external genitalia	2239	GPC4	ORPHA:373
HP:0000811	Abnormal external genitalia	2719	GPC3	ORPHA:373
HP:0000811	Abnormal external genitalia	64324	NSD1	ORPHA:3447
HP:0000811	Abnormal external genitalia	8726	EED	ORPHA:3447
HP:0000811	Abnormal external genitalia	23512	SUZ12	ORPHA:3447
HP:0000811	Abnormal external genitalia	2146	EZH2	ORPHA:3447
HP:0000811	Abnormal external genitalia	9897	WASHC5	ORPHA:7
HP:0000811	Abnormal external genitalia	28952	CCDC22	ORPHA:7
HP:0000811	Abnormal external genitalia	9915	ARNT2	ORPHA:3157
HP:0000811	Abnormal external genitalia	2690	GHR	ORPHA:633
HP:0000811	Abnormal external genitalia	4000	LMNA	OMIM:151660
HP:0000811	Abnormal external genitalia	10606	PAICS	OMIM:619859
HP:0000811	Abnormal external genitalia	50945	TBX22	ORPHA:921
HP:0000811	Abnormal external genitalia	10225	CD96	ORPHA:1308
HP:0000811	Abnormal external genitalia	7486	WRN	ORPHA:902
HP:0000811	Abnormal external genitalia	392255	GDF6	OMIM:613094
HP:0000811	Abnormal external genitalia	79577	CDC73	ORPHA:143
HP:0000811	Abnormal external genitalia	79577	CDC73	ORPHA:99880
HP:0000811	Abnormal external genitalia	284058	KANSL1	ORPHA:363965
HP:0000811	Abnormal external genitalia	284058	KANSL1	ORPHA:363958
HP:0000811	Abnormal external genitalia	2130	EWSR1	ORPHA:83469
HP:0000811	Abnormal external genitalia	5566	PRKACA	ORPHA:189439
HP:0000811	Abnormal external genitalia	8622	PDE8B	ORPHA:189439
HP:0000811	Abnormal external genitalia	5573	PRKAR1A	ORPHA:189439
HP:0000811	Abnormal external genitalia	5573	PRKAR1A	ORPHA:1359
HP:0000811	Abnormal external genitalia	50940	PDE11A	ORPHA:189439
HP:0000811	Abnormal external genitalia	50940	PDE11A	ORPHA:1359
HP:0000811	Abnormal external genitalia	412	STS	OMIM:308100
HP:0000811	Abnormal external genitalia	1027	CDKN1B	ORPHA:276152
HP:0000811	Abnormal external genitalia	7157	TP53	ORPHA:524
HP:0000811	Abnormal external genitalia	1029	CDKN2A	ORPHA:524
HP:0000811	Abnormal external genitalia	4193	MDM2	ORPHA:524
HP:0000811	Abnormal external genitalia	11200	CHEK2	ORPHA:524
HP:0000811	Abnormal external genitalia	6611	SMS	ORPHA:3063
HP:0000811	Abnormal external genitalia	2778	GNAS	ORPHA:562
HP:0000811	Abnormal external genitalia	2488	FSHB	ORPHA:52901
HP:0000811	Abnormal external genitalia	10568	SLC34A2	ORPHA:60025
HP:0000811	Abnormal external genitalia	3972	LHB	OMIM:228300
HP:0000811	Abnormal external genitalia	51574	LARP7	OMIM:615071
HP:0000811	Abnormal external genitalia	6904	TBCD	OMIM:617193
HP:0000811	Abnormal external genitalia	64132	XYLT2	OMIM:605822
HP:0000811	Abnormal external genitalia	745	MYRF	OMIM:618280
HP:0000811	Abnormal external genitalia	4784	NFIX	ORPHA:447980
HP:0000811	Abnormal external genitalia	104	ADARB1	OMIM:618862
HP:0000811	Abnormal external genitalia	90121	TSR2	OMIM:300946
HP:0000811	Abnormal external genitalia	4781	NFIB	OMIM:618286
HP:0000811	Abnormal external genitalia	51111	KMT5B	OMIM:617788
HP:0000811	Abnormal external genitalia	3481	IGF2	OMIM:616489
HP:0000811	Abnormal external genitalia	83479	DDX59	OMIM:174300
HP:0000811	Abnormal external genitalia	6736	SRY	ORPHA:1772
HP:0000811	Abnormal external genitalia	84282	RNF135	ORPHA:137634
HP:0000811	Abnormal external genitalia	64093	SMOC1	OMIM:206920
HP:0000811	Abnormal external genitalia	25942	SIN3A	OMIM:613406
HP:0000811	Abnormal external genitalia	3640	INSL3	OMIM:219050
HP:0000811	Abnormal external genitalia	5881	RAC3	OMIM:618577
HP:0000811	Abnormal external genitalia	3284	HSD3B2	OMIM:201810
HP:0000811	Abnormal external genitalia	1528	CYB5A	OMIM:250790
HP:0000811	Abnormal external genitalia	1583	CYP11A1	ORPHA:289548
HP:0000811	Abnormal external genitalia	1583	CYP11A1	ORPHA:168558
HP:0000811	Abnormal external genitalia	56983	POGLUT1	ORPHA:79145
HP:0000811	Abnormal external genitalia	3852	KRT5	ORPHA:79145
HP:0000811	Abnormal external genitalia	23509	POFUT1	ORPHA:79145
HP:0000811	Abnormal external genitalia	55851	PSENEN	ORPHA:79145
HP:0000811	Abnormal external genitalia	114034	TOE1	ORPHA:284339
HP:0000811	Abnormal external genitalia	9562	MINPP1	ORPHA:284339
HP:0000811	Abnormal external genitalia	7840	ALMS1	ORPHA:64
HP:0000811	Abnormal external genitalia	54361	WNT4	OMIM:611812
HP:0000811	Abnormal external genitalia	1349	COX7B	OMIM:309801
HP:0000811	Abnormal external genitalia	3052	HCCS	OMIM:309801
HP:0000811	Abnormal external genitalia	54539	NDUFB11	OMIM:309801
HP:0000811	Abnormal external genitalia	57647	DHX37	OMIM:273250
HP:0000811	Abnormal external genitalia	57647	DHX37	ORPHA:251510
HP:0000811	Abnormal external genitalia	6662	SOX9	ORPHA:251510
HP:0000811	Abnormal external genitalia	6845	VAMP7	ORPHA:251510
HP:0000811	Abnormal external genitalia	51741	WWOX	ORPHA:251510
HP:0000811	Abnormal external genitalia	4214	MAP3K1	ORPHA:251510
HP:0000811	Abnormal external genitalia	2516	NR5A1	ORPHA:251510
HP:0000811	Abnormal external genitalia	7490	WT1	ORPHA:251510
HP:0000811	Abnormal external genitalia	58524	DMRT3	ORPHA:251510
HP:0000811	Abnormal external genitalia	23414	ZFPM2	ORPHA:251510
HP:0000811	Abnormal external genitalia	190	NR0B1	ORPHA:251510
HP:0000811	Abnormal external genitalia	2626	GATA4	ORPHA:251510
HP:0000811	Abnormal external genitalia	207	AKT1	OMIM:615109
HP:0000811	Abnormal external genitalia	5728	PTEN	OMIM:158350
HP:0000811	Abnormal external genitalia	10847	SRCAP	ORPHA:2044
HP:0000811	Abnormal external genitalia	10847	SRCAP	OMIM:136140
HP:0000811	Abnormal external genitalia	3991	LIPE	ORPHA:435660
HP:0000811	Abnormal external genitalia	56246	MRAP	ORPHA:361
HP:0000811	Abnormal external genitalia	6770	STAR	ORPHA:361
HP:0000811	Abnormal external genitalia	4158	MC2R	ORPHA:361
HP:0000811	Abnormal external genitalia	23530	NNT	ORPHA:361
HP:0000811	Abnormal external genitalia	10587	TXNRD2	ORPHA:361
HP:0000811	Abnormal external genitalia	657	BMPR1A	ORPHA:79076
HP:0000811	Abnormal external genitalia	2188	FANCF	OMIM:603467
HP:0000811	Abnormal external genitalia	54809	SAMD9	OMIM:617053
HP:0000811	Abnormal external genitalia	57187	THOC2	OMIM:300957
HP:0000811	Abnormal external genitalia	6870	TACR3	OMIM:614840
HP:0000811	Abnormal external genitalia	25914	RTTN	ORPHA:468631
HP:0000811	Abnormal external genitalia	26123	TCTN3	ORPHA:2753
HP:0000811	Abnormal external genitalia	161742	SPRED1	ORPHA:137605
HP:0000811	Abnormal external genitalia	5792	PTPRF	OMIM:616001
HP:0000811	Abnormal external genitalia	402381	SOHLH1	OMIM:618115
HP:0000811	Abnormal external genitalia	5447	POR	ORPHA:95699
HP:0000811	Abnormal external genitalia	9817	KEAP1	ORPHA:276399
HP:0000811	Abnormal external genitalia	23405	DICER1	ORPHA:276399
HP:0000811	Abnormal external genitalia	80169	CTC1	ORPHA:1775
HP:0000811	Abnormal external genitalia	26277	TINF2	ORPHA:1775
HP:0000811	Abnormal external genitalia	55651	NHP2	ORPHA:1775
HP:0000811	Abnormal external genitalia	79650	USB1	ORPHA:1775
HP:0000811	Abnormal external genitalia	55135	WRAP53	ORPHA:1775
HP:0000811	Abnormal external genitalia	51750	RTEL1	ORPHA:1775
HP:0000811	Abnormal external genitalia	4869	NPM1	ORPHA:1775
HP:0000811	Abnormal external genitalia	7012	TERC	ORPHA:1775
HP:0000811	Abnormal external genitalia	55505	NOP10	ORPHA:1775
HP:0000811	Abnormal external genitalia	5073	PARN	ORPHA:1775
HP:0000811	Abnormal external genitalia	7015	TERT	ORPHA:1775
HP:0000811	Abnormal external genitalia	79827	CLMP	ORPHA:2301
HP:0000811	Abnormal external genitalia	2767	GNA11	ORPHA:1556
HP:0000811	Abnormal external genitalia	151188	ARL6IP6	ORPHA:1556
HP:0000811	Abnormal external genitalia	4210	MEFV	ORPHA:342
HP:0000811	Abnormal external genitalia	4210	MEFV	OMIM:249100
HP:0000811	Abnormal external genitalia	4210	MEFV	ORPHA:117
HP:0000811	Abnormal external genitalia	7132	TNFRSF1A	ORPHA:32960
HP:0000811	Abnormal external genitalia	149233	IL23R	ORPHA:117
HP:0000811	Abnormal external genitalia	6775	STAT4	ORPHA:117
HP:0000811	Abnormal external genitalia	3586	IL10	ORPHA:117
HP:0000811	Abnormal external genitalia	1230	CCR1	ORPHA:117
HP:0000811	Abnormal external genitalia	355	FAS	ORPHA:117
HP:0000811	Abnormal external genitalia	3592	IL12A	ORPHA:117
HP:0000811	Abnormal external genitalia	101928376	IL12A-AS1	ORPHA:117
HP:0000811	Abnormal external genitalia	3106	HLA-B	ORPHA:117
HP:0000811	Abnormal external genitalia	7099	TLR4	ORPHA:117
HP:0000811	Abnormal external genitalia	3459	IFNGR1	ORPHA:117
HP:0000811	Abnormal external genitalia	720	C4A	ORPHA:117
HP:0000811	Abnormal external genitalia	337867	UBAC2	ORPHA:117
HP:0000811	Abnormal external genitalia	51752	ERAP1	ORPHA:117
HP:0000811	Abnormal external genitalia	8302	KLRC4	ORPHA:117
HP:0000811	Abnormal external genitalia	11285	B4GALT7	ORPHA:75496
HP:0000811	Abnormal external genitalia	3339	HSPG2	ORPHA:800
HP:0000811	Abnormal external genitalia	2313	FLI1	ORPHA:370348
HP:0000812	Abnormal internal genitalia	5566	PRKACA	ORPHA:289
HP:0000812	Abnormal internal genitalia	5567	PRKACB	ORPHA:289
HP:0000812	Abnormal internal genitalia	2735	GLI1	ORPHA:289
HP:0000812	Abnormal internal genitalia	2121	EVC	ORPHA:289
HP:0000812	Abnormal internal genitalia	51626	DYNC2LI1	ORPHA:289
HP:0000812	Abnormal internal genitalia	132884	EVC2	ORPHA:289
HP:0000812	Abnormal internal genitalia	6911	TBX6	ORPHA:1797
HP:0000812	Abnormal internal genitalia	80169	CTC1	ORPHA:1775
HP:0000812	Abnormal internal genitalia	26277	TINF2	ORPHA:1775
HP:0000812	Abnormal internal genitalia	55651	NHP2	ORPHA:1775
HP:0000812	Abnormal internal genitalia	79650	USB1	ORPHA:1775
HP:0000812	Abnormal internal genitalia	55135	WRAP53	ORPHA:1775
HP:0000812	Abnormal internal genitalia	51750	RTEL1	ORPHA:1775
HP:0000812	Abnormal internal genitalia	4869	NPM1	ORPHA:1775
HP:0000812	Abnormal internal genitalia	7012	TERC	ORPHA:1775
HP:0000812	Abnormal internal genitalia	55505	NOP10	ORPHA:1775
HP:0000812	Abnormal internal genitalia	5073	PARN	ORPHA:1775
HP:0000812	Abnormal internal genitalia	7015	TERT	ORPHA:1775
HP:0000812	Abnormal internal genitalia	1736	DKC1	ORPHA:1775
HP:0000812	Abnormal internal genitalia	7298	TYMS	ORPHA:1775
HP:0000812	Abnormal internal genitalia	7852	CXCR4	OMIM:193670
HP:0000812	Abnormal internal genitalia	134701	RIPPLY2	ORPHA:2311
HP:0000812	Abnormal internal genitalia	10683	DLL3	ORPHA:2311
HP:0000812	Abnormal internal genitalia	3955	LFNG	ORPHA:2311
HP:0000812	Abnormal internal genitalia	84667	HES7	ORPHA:2311
HP:0000812	Abnormal internal genitalia	145873	MESP2	ORPHA:2311
HP:0000812	Abnormal internal genitalia	7248	TSC1	ORPHA:538
HP:0000812	Abnormal internal genitalia	7249	TSC2	ORPHA:538
HP:0000812	Abnormal internal genitalia	5979	RET	ORPHA:1848
HP:0000812	Abnormal internal genitalia	8516	ITGA8	ORPHA:1848
HP:0000812	Abnormal internal genitalia	26281	FGF20	ORPHA:1848
HP:0000812	Abnormal internal genitalia	2674	GFRA1	ORPHA:1848
HP:0000812	Abnormal internal genitalia	7484	WNT9B	ORPHA:1848
HP:0000812	Abnormal internal genitalia	9723	SEMA3E	ORPHA:138
HP:0000812	Abnormal internal genitalia	10371	SEMA3A	ORPHA:478
HP:0000812	Abnormal internal genitalia	23767	FLRT3	ORPHA:478
HP:0000812	Abnormal internal genitalia	79625	NDNF	ORPHA:478
HP:0000812	Abnormal internal genitalia	389549	FEZF1	ORPHA:478
HP:0000812	Abnormal internal genitalia	1630	DCC	ORPHA:478
HP:0000812	Abnormal internal genitalia	3730	ANOS1	ORPHA:478
HP:0000812	Abnormal internal genitalia	54756	IL17RD	ORPHA:478
HP:0000812	Abnormal internal genitalia	6663	SOX10	ORPHA:478
HP:0000812	Abnormal internal genitalia	285025	CCDC141	ORPHA:478
HP:0000812	Abnormal internal genitalia	8820	HESX1	ORPHA:478
HP:0000812	Abnormal internal genitalia	5573	PRKAR1A	ORPHA:1359
HP:0000812	Abnormal internal genitalia	50940	PDE11A	ORPHA:1359
HP:0000812	Abnormal internal genitalia	3239	HOXD13	ORPHA:887
HP:0000812	Abnormal internal genitalia	668	FOXL2	OMIM:110100
HP:0000812	Abnormal internal genitalia	668	FOXL2	ORPHA:572333
HP:0000812	Abnormal internal genitalia	668	FOXL2	OMIM:608996
HP:0000812	Abnormal internal genitalia	128	ADH5	OMIM:619151
HP:0000812	Abnormal internal genitalia	2260	FGFR1	ORPHA:432
HP:0000812	Abnormal internal genitalia	81848	SPRY4	ORPHA:432
HP:0000812	Abnormal internal genitalia	128674	PROKR2	ORPHA:432
HP:0000812	Abnormal internal genitalia	2253	FGF8	ORPHA:432
HP:0000812	Abnormal internal genitalia	60675	PROK2	ORPHA:432
HP:0000812	Abnormal internal genitalia	55636	CHD7	ORPHA:432
HP:0000812	Abnormal internal genitalia	6870	TACR3	ORPHA:432
HP:0000812	Abnormal internal genitalia	1848	DUSP6	ORPHA:432
HP:0000812	Abnormal internal genitalia	26012	NSMF	ORPHA:432
HP:0000812	Abnormal internal genitalia	55717	WDR11	ORPHA:432
HP:0000812	Abnormal internal genitalia	9394	HS6ST1	ORPHA:432
HP:0000812	Abnormal internal genitalia	2796	GNRH1	ORPHA:432
HP:0000812	Abnormal internal genitalia	2796	GNRH1	OMIM:614841
HP:0000812	Abnormal internal genitalia	2798	GNRHR	ORPHA:432
HP:0000812	Abnormal internal genitalia	84634	KISS1R	ORPHA:432
HP:0000812	Abnormal internal genitalia	84634	KISS1R	OMIM:614837
HP:0000812	Abnormal internal genitalia	6866	TAC3	ORPHA:432
HP:0000812	Abnormal internal genitalia	8822	FGF17	ORPHA:432
HP:0000812	Abnormal internal genitalia	3814	KISS1	ORPHA:432
HP:0000812	Abnormal internal genitalia	3814	KISS1	OMIM:614842
HP:0000812	Abnormal internal genitalia	5447	POR	OMIM:201750
HP:0000812	Abnormal internal genitalia	402381	SOHLH1	OMIM:617690
HP:0000812	Abnormal internal genitalia	9210	BMP15	OMIM:300510
HP:0000812	Abnormal internal genitalia	1349	COX7B	OMIM:309801
HP:0000812	Abnormal internal genitalia	3052	HCCS	OMIM:309801
HP:0000812	Abnormal internal genitalia	54539	NDUFB11	OMIM:309801
HP:0000812	Abnormal internal genitalia	145173	B3GLCT	OMIM:261540
HP:0000812	Abnormal internal genitalia	145173	B3GLCT	ORPHA:709
HP:0000812	Abnormal internal genitalia	54361	WNT4	ORPHA:247768
HP:0000812	Abnormal internal genitalia	2516	NR5A1	OMIM:612964
HP:0000812	Abnormal internal genitalia	2516	NR5A1	OMIM:612965
HP:0000812	Abnormal internal genitalia	80067	DCAF17	ORPHA:3464
HP:0000812	Abnormal internal genitalia	80067	DCAF17	OMIM:241080
HP:0000812	Abnormal internal genitalia	64220	STRA6	OMIM:601186
HP:0000812	Abnormal internal genitalia	2099	ESR1	ORPHA:785
HP:0000812	Abnormal internal genitalia	2099	ESR1	OMIM:615363
HP:0000812	Abnormal internal genitalia	317761	C14orf39	OMIM:619203
HP:0000812	Abnormal internal genitalia	1584	CYP11B1	OMIM:202010
HP:0000812	Abnormal internal genitalia	3664	IRF6	OMIM:119500
HP:0000812	Abnormal internal genitalia	57122	NUP107	OMIM:618078
HP:0000812	Abnormal internal genitalia	1528	CYB5A	ORPHA:90796
HP:0000812	Abnormal internal genitalia	1586	CYP17A1	ORPHA:90796
HP:0000812	Abnormal internal genitalia	9928	KIF14	OMIM:616258
HP:0000812	Abnormal internal genitalia	9928	KIF14	OMIM:617914
HP:0000812	Abnormal internal genitalia	56945	MRPS22	OMIM:618117
HP:0000812	Abnormal internal genitalia	6928	HNF1B	OMIM:137920
HP:0000812	Abnormal internal genitalia	8192	CLPP	OMIM:614129
HP:0000812	Abnormal internal genitalia	658	BMPR1B	OMIM:609441
HP:0000812	Abnormal internal genitalia	23514	SPIDR	OMIM:619665
HP:0000812	Abnormal internal genitalia	26284	ERAL1	OMIM:617565
HP:0000812	Abnormal internal genitalia	4439	MSH5	OMIM:617442
HP:0000812	Abnormal internal genitalia	51199	NIN	OMIM:614851
HP:0000812	Abnormal internal genitalia	23395	LARS2	OMIM:615300
HP:0000812	Abnormal internal genitalia	55012	PPP2R3C	OMIM:618419
HP:0000812	Abnormal internal genitalia	344018	FIGLA	OMIM:612310
HP:0000812	Abnormal internal genitalia	6664	SOX11	OMIM:615866
HP:0000812	Abnormal internal genitalia	50846	DHH	OMIM:233420
HP:0000812	Abnormal internal genitalia	50846	DHH	ORPHA:168563
HP:0000812	Abnormal internal genitalia	3081	HGD	ORPHA:56
HP:0000812	Abnormal internal genitalia	695	BTK	OMIM:300755
HP:0000812	Abnormal internal genitalia	695	BTK	OMIM:307200
HP:0000812	Abnormal internal genitalia	1493	CTLA4	ORPHA:900
HP:0000812	Abnormal internal genitalia	26191	PTPN22	ORPHA:900
HP:0000812	Abnormal internal genitalia	3115	HLA-DPB1	ORPHA:900
HP:0000812	Abnormal internal genitalia	5657	PRTN3	ORPHA:900
HP:0000812	Abnormal internal genitalia	3113	HLA-DPA1	ORPHA:900
HP:0000812	Abnormal internal genitalia	7374	UNG	OMIM:608106
HP:0000812	Abnormal internal genitalia	5696	PSMB8	OMIM:256040
HP:0000812	Abnormal internal genitalia	3514	IGKC	ORPHA:183675
HP:0000812	Abnormal internal genitalia	3501	IGHG2	ORPHA:183675
HP:0000812	Abnormal internal genitalia	23476	BRD4	ORPHA:199
HP:0000812	Abnormal internal genitalia	9126	SMC3	ORPHA:199
HP:0000812	Abnormal internal genitalia	8243	SMC1A	ORPHA:199
HP:0000812	Abnormal internal genitalia	25836	NIPBL	ORPHA:199
HP:0000812	Abnormal internal genitalia	55869	HDAC8	ORPHA:199
HP:0000812	Abnormal internal genitalia	5885	RAD21	ORPHA:199
HP:0000812	Abnormal internal genitalia	5915	RARB	ORPHA:2470
HP:0000812	Abnormal internal genitalia	672	BRCA1	ORPHA:84
HP:0000812	Abnormal internal genitalia	10459	MAD2L2	ORPHA:84
HP:0000812	Abnormal internal genitalia	7516	XRCC2	ORPHA:84
HP:0000812	Abnormal internal genitalia	29089	UBE2T	ORPHA:84
HP:0000812	Abnormal internal genitalia	675	BRCA2	ORPHA:84
HP:0000812	Abnormal internal genitalia	55120	FANCL	ORPHA:84
HP:0000812	Abnormal internal genitalia	2177	FANCD2	ORPHA:84
HP:0000812	Abnormal internal genitalia	2175	FANCA	ORPHA:84
HP:0000812	Abnormal internal genitalia	2187	FANCB	ORPHA:84
HP:0000812	Abnormal internal genitalia	2176	FANCC	ORPHA:84
HP:0000812	Abnormal internal genitalia	2178	FANCE	ORPHA:84
HP:0000812	Abnormal internal genitalia	2188	FANCF	ORPHA:84
HP:0000812	Abnormal internal genitalia	2189	FANCG	ORPHA:84
HP:0000812	Abnormal internal genitalia	5888	RAD51	ORPHA:84
HP:0000812	Abnormal internal genitalia	5889	RAD51C	ORPHA:84
HP:0000812	Abnormal internal genitalia	55159	RFWD3	ORPHA:84
HP:0000812	Abnormal internal genitalia	83990	BRIP1	ORPHA:84
HP:0000812	Abnormal internal genitalia	57697	FANCM	ORPHA:84
HP:0000812	Abnormal internal genitalia	79728	PALB2	ORPHA:84
HP:0000812	Abnormal internal genitalia	84464	SLX4	ORPHA:84
HP:0000812	Abnormal internal genitalia	2072	ERCC4	ORPHA:84
HP:0000812	Abnormal internal genitalia	55215	FANCI	ORPHA:84
HP:0000812	Abnormal internal genitalia	1131	CHRM3	ORPHA:2970
HP:0000812	Abnormal internal genitalia	1312	COMT	ORPHA:567
HP:0000812	Abnormal internal genitalia	221037	JMJD1C	ORPHA:567
HP:0000812	Abnormal internal genitalia	2812	GP1BB	ORPHA:567
HP:0000812	Abnormal internal genitalia	6239	RREB1	ORPHA:567
HP:0000812	Abnormal internal genitalia	6899	TBX1	ORPHA:567
HP:0000812	Abnormal internal genitalia	7290	HIRA	ORPHA:567
HP:0000812	Abnormal internal genitalia	9632	SEC24C	ORPHA:567
HP:0000812	Abnormal internal genitalia	7353	UFD1	ORPHA:567
HP:0000812	Abnormal internal genitalia	421	ARVCF	ORPHA:567
HP:0000812	Abnormal internal genitalia	10262	SF3B4	ORPHA:1788
HP:0000812	Abnormal internal genitalia	10483	SEC23B	ORPHA:201
HP:0000812	Abnormal internal genitalia	5728	PTEN	ORPHA:201
HP:0000812	Abnormal internal genitalia	6390	SDHB	ORPHA:201
HP:0000812	Abnormal internal genitalia	6392	SDHD	ORPHA:201
HP:0000812	Abnormal internal genitalia	6391	SDHC	ORPHA:201
HP:0000812	Abnormal internal genitalia	207	AKT1	ORPHA:201
HP:0000812	Abnormal internal genitalia	205717	USF3	ORPHA:201
HP:0000812	Abnormal internal genitalia	5290	PIK3CA	ORPHA:201
HP:0000812	Abnormal internal genitalia	100144748	KLLN	ORPHA:201
HP:0000812	Abnormal internal genitalia	54903	MKS1	OMIM:249000
HP:0000812	Abnormal internal genitalia	4036	LRP2	ORPHA:2143
HP:0000812	Abnormal internal genitalia	6299	SALL1	ORPHA:857
HP:0000812	Abnormal internal genitalia	51339	DACT1	ORPHA:857
HP:0000812	Abnormal internal genitalia	80000	GREB1L	OMIM:617805
HP:0000812	Abnormal internal genitalia	5080	PAX6	OMIM:194072
HP:0000812	Abnormal internal genitalia	6926	TBX3	ORPHA:3138
HP:0000812	Abnormal internal genitalia	79577	CDC73	ORPHA:143
HP:0000812	Abnormal internal genitalia	79577	CDC73	ORPHA:99880
HP:0000812	Abnormal internal genitalia	2261	FGFR3	OMIM:616482
HP:0000812	Abnormal internal genitalia	4437	MSH3	ORPHA:480536
HP:0000812	Abnormal internal genitalia	4437	MSH3	OMIM:617100
HP:0000812	Abnormal internal genitalia	23414	ZFPM2	OMIM:616067
HP:0000812	Abnormal internal genitalia	23414	ZFPM2	ORPHA:251510
HP:0000812	Abnormal internal genitalia	4659	PPP1R12A	OMIM:618820
HP:0000812	Abnormal internal genitalia	7490	WT1	OMIM:194080
HP:0000812	Abnormal internal genitalia	7490	WT1	OMIM:136680
HP:0000812	Abnormal internal genitalia	7490	WT1	ORPHA:220
HP:0000812	Abnormal internal genitalia	7490	WT1	ORPHA:251510
HP:0000812	Abnormal internal genitalia	404672	GTF2H5	ORPHA:33364
HP:0000812	Abnormal internal genitalia	833	CARS1	ORPHA:33364
HP:0000812	Abnormal internal genitalia	2068	ERCC2	ORPHA:33364
HP:0000812	Abnormal internal genitalia	7737	RNF113A	ORPHA:33364
HP:0000812	Abnormal internal genitalia	136647	MPLKIP	ORPHA:33364
HP:0000812	Abnormal internal genitalia	6897	TARS1	ORPHA:33364
HP:0000812	Abnormal internal genitalia	2071	ERCC3	ORPHA:33364
HP:0000812	Abnormal internal genitalia	2961	GTF2E2	ORPHA:33364
HP:0000812	Abnormal internal genitalia	6736	SRY	OMIM:400044
HP:0000812	Abnormal internal genitalia	6736	SRY	ORPHA:251510
HP:0000812	Abnormal internal genitalia	29893	PSMC3IP	ORPHA:243
HP:0000812	Abnormal internal genitalia	171568	POLR3H	ORPHA:243
HP:0000812	Abnormal internal genitalia	125150	ZSWIM7	ORPHA:243
HP:0000812	Abnormal internal genitalia	2492	FSHR	ORPHA:243
HP:0000812	Abnormal internal genitalia	2492	FSHR	OMIM:233300
HP:0000812	Abnormal internal genitalia	646	BNC1	ORPHA:243
HP:0000812	Abnormal internal genitalia	114034	TOE1	ORPHA:284339
HP:0000812	Abnormal internal genitalia	9562	MINPP1	ORPHA:284339
HP:0000812	Abnormal internal genitalia	10329	RXYLT1	OMIM:615041
HP:0000812	Abnormal internal genitalia	56652	TWNK	OMIM:616138
HP:0000812	Abnormal internal genitalia	4214	MAP3K1	OMIM:613762
HP:0000812	Abnormal internal genitalia	4214	MAP3K1	ORPHA:251510
HP:0000812	Abnormal internal genitalia	3295	HSD17B4	OMIM:233400
HP:0000812	Abnormal internal genitalia	6662	SOX9	ORPHA:251510
HP:0000812	Abnormal internal genitalia	6845	VAMP7	ORPHA:251510
HP:0000812	Abnormal internal genitalia	51741	WWOX	ORPHA:251510
HP:0000812	Abnormal internal genitalia	58524	DMRT3	ORPHA:251510
HP:0000812	Abnormal internal genitalia	57647	DHX37	ORPHA:251510
HP:0000812	Abnormal internal genitalia	190	NR0B1	ORPHA:251510
HP:0000812	Abnormal internal genitalia	2626	GATA4	ORPHA:251510
HP:0000812	Abnormal internal genitalia	26227	PHGDH	OMIM:256520
HP:0000812	Abnormal internal genitalia	4609	MYC	ORPHA:543
HP:0000812	Abnormal internal genitalia	79140	CCDC28B	OMIM:209900
HP:0000812	Abnormal internal genitalia	5295	PIK3R1	OMIM:269880
HP:0000812	Abnormal internal genitalia	3643	INSR	OMIM:246200
HP:0000812	Abnormal internal genitalia	55503	TRPV6	OMIM:618188
HP:0000812	Abnormal internal genitalia	2155	F7	ORPHA:327
HP:0000812	Abnormal internal genitalia	2778	GNAS	ORPHA:562
HP:0000812	Abnormal internal genitalia	3972	LHB	OMIM:228300
HP:0000812	Abnormal internal genitalia	8481	OFD1	OMIM:311200
HP:0000812	Abnormal internal genitalia	6197	RPS6KA3	OMIM:303600
HP:0000812	Abnormal internal genitalia	2006	ELN	OMIM:123700
HP:0000812	Abnormal internal genitalia	341640	FREM2	ORPHA:2052
HP:0000812	Abnormal internal genitalia	80144	FRAS1	ORPHA:2052
HP:0000812	Abnormal internal genitalia	23426	GRIP1	ORPHA:2052
HP:0000812	Abnormal internal genitalia	84818	IL17RC	ORPHA:1334
HP:0000812	Abnormal internal genitalia	64581	CLEC7A	ORPHA:1334
HP:0000812	Abnormal internal genitalia	23765	IL17RA	ORPHA:1334
HP:0000812	Abnormal internal genitalia	10758	TRAF3IP2	ORPHA:1334
HP:0000812	Abnormal internal genitalia	112744	IL17F	ORPHA:1334
HP:0000812	Abnormal internal genitalia	219844	HYLS1	OMIM:236680
HP:0000812	Abnormal internal genitalia	9361	LONP1	OMIM:600373
HP:0000812	Abnormal internal genitalia	57167	SALL4	OMIM:147750
HP:0000812	Abnormal internal genitalia	57167	SALL4	ORPHA:2307
HP:0000812	Abnormal internal genitalia	3588	IL10RB	OMIM:612567
HP:0000812	Abnormal internal genitalia	26123	TCTN3	ORPHA:2753
HP:0000812	Abnormal internal genitalia	10653	SPINT2	OMIM:270420
HP:0000812	Abnormal internal genitalia	84172	POLR1B	ORPHA:861
HP:0000812	Abnormal internal genitalia	9533	POLR1C	ORPHA:861
HP:0000812	Abnormal internal genitalia	51082	POLR1D	ORPHA:861
HP:0000812	Abnormal internal genitalia	6949	TCOF1	ORPHA:861
HP:0000812	Abnormal internal genitalia	9401	RECQL4	OMIM:218600
HP:0000812	Abnormal internal genitalia	267010	RNU12	OMIM:603116
HP:0000812	Abnormal internal genitalia	374654	KIF7	OMIM:200990
HP:0000812	Abnormal internal genitalia	1642	DDB1	OMIM:619426
HP:0000812	Abnormal internal genitalia	3718	JAK3	ORPHA:35078
HP:0000812	Abnormal internal genitalia	158326	FREM1	OMIM:608980
HP:0000812	Abnormal internal genitalia	5297	PI4KA	OMIM:619708
HP:0000812	Abnormal internal genitalia	7840	ALMS1	ORPHA:64
HP:0000812	Abnormal internal genitalia	6658	SOX3	ORPHA:393
HP:0000812	Abnormal internal genitalia	26580	BSCL2	OMIM:269700
HP:0000812	Abnormal internal genitalia	26580	BSCL2	ORPHA:528
HP:0000812	Abnormal internal genitalia	3991	LIPE	ORPHA:435660
HP:0000812	Abnormal internal genitalia	4519	MT-CYB	ORPHA:137675
HP:0000812	Abnormal internal genitalia	2321	FLT1	ORPHA:275555
HP:0000812	Abnormal internal genitalia	219736	STOX1	ORPHA:275555
HP:0000812	Abnormal internal genitalia	10699	CORIN	ORPHA:275555
HP:0000812	Abnormal internal genitalia	7461	CLIP2	ORPHA:904
HP:0000812	Abnormal internal genitalia	84277	DNAJC30	ORPHA:904
HP:0000812	Abnormal internal genitalia	8468	FKBP6	ORPHA:904
HP:0000812	Abnormal internal genitalia	5982	RFC2	ORPHA:904
HP:0000812	Abnormal internal genitalia	2969	GTF2I	ORPHA:904
HP:0000812	Abnormal internal genitalia	3984	LIMK1	ORPHA:904
HP:0000812	Abnormal internal genitalia	9569	GTF2IRD1	ORPHA:904
HP:0000812	Abnormal internal genitalia	155382	VPS37D	ORPHA:904
HP:0000812	Abnormal internal genitalia	155368	METTL27	ORPHA:904
HP:0000812	Abnormal internal genitalia	114049	BUD23	ORPHA:904
HP:0000812	Abnormal internal genitalia	7458	EIF4H	ORPHA:904
HP:0000812	Abnormal internal genitalia	84163	GTF2IRD2	ORPHA:904
HP:0000812	Abnormal internal genitalia	9275	BCL7B	ORPHA:904
HP:0000812	Abnormal internal genitalia	26608	TBL2	ORPHA:904
HP:0000812	Abnormal internal genitalia	653361	NCF1	ORPHA:904
HP:0000812	Abnormal internal genitalia	135886	TMEM270	ORPHA:904
HP:0000812	Abnormal internal genitalia	51085	MLXIPL	ORPHA:904
HP:0000812	Abnormal internal genitalia	9031	BAZ1B	ORPHA:904
HP:0000812	Abnormal internal genitalia	118429	ANTXR2	ORPHA:2176
HP:0000812	Abnormal internal genitalia	472	ATM	ORPHA:100
HP:0000812	Abnormal internal genitalia	5346	PLIN1	ORPHA:280356
HP:0000812	Abnormal internal genitalia	5468	PPARG	OMIM:604367
HP:0000812	Abnormal internal genitalia	5468	PPARG	ORPHA:79083
HP:0000812	Abnormal internal genitalia	5468	PPARG	ORPHA:528
HP:0000812	Abnormal internal genitalia	63924	CIDEC	ORPHA:435651
HP:0000812	Abnormal internal genitalia	6927	HNF1A	OMIM:142330
HP:0000812	Abnormal internal genitalia	2542	SLC37A4	ORPHA:79259
HP:0000812	Abnormal internal genitalia	208	AKT2	ORPHA:79085
HP:0000812	Abnormal internal genitalia	5257	PHKB	ORPHA:79240
HP:0000812	Abnormal internal genitalia	10555	AGPAT2	ORPHA:528
HP:0000812	Abnormal internal genitalia	10555	AGPAT2	OMIM:608594
HP:0000812	Abnormal internal genitalia	284119	CAVIN1	ORPHA:528
HP:0000812	Abnormal internal genitalia	2353	FOS	ORPHA:528
HP:0000812	Abnormal internal genitalia	857	CAV1	ORPHA:528
HP:0000812	Abnormal internal genitalia	4313	MMP2	ORPHA:371428
HP:0000812	Abnormal internal genitalia	4323	MMP14	ORPHA:371428
HP:0000812	Abnormal internal genitalia	1761	DMRT1	ORPHA:242
HP:0000812	Abnormal internal genitalia	84733	CBX2	ORPHA:242
HP:0000812	Abnormal internal genitalia	5256	PHKA2	ORPHA:264580
HP:0000812	Abnormal internal genitalia	5261	PHKG2	ORPHA:264580
HP:0000812	Abnormal internal genitalia	24145	PANX1	ORPHA:488191
HP:0000812	Abnormal internal genitalia	494551	WEE2	ORPHA:488191
HP:0000812	Abnormal internal genitalia	197135	PATL2	ORPHA:488191
HP:0000812	Abnormal internal genitalia	347688	TUBB8	ORPHA:488191
HP:0000812	Abnormal internal genitalia	84823	LMNB2	OMIM:608709
HP:0000812	Abnormal internal genitalia	29072	SETD2	OMIM:616831
HP:0000812	Abnormal internal genitalia	4487	MSX1	ORPHA:2228
HP:0000812	Abnormal internal genitalia	340419	RSPO2	ORPHA:3301
HP:0000812	Abnormal internal genitalia	1028	CDKN1C	OMIM:130650
HP:0000812	Abnormal internal genitalia	10984	KCNQ1OT1	OMIM:130650
HP:0000812	Abnormal internal genitalia	3481	IGF2	OMIM:130650
HP:0000812	Abnormal internal genitalia	3784	KCNQ1	OMIM:130650
HP:0000812	Abnormal internal genitalia	745	MYRF	OMIM:618280
HP:0000812	Abnormal internal genitalia	57492	ARID1B	OMIM:135900
HP:0000812	Abnormal internal genitalia	7476	WNT7A	ORPHA:2879
HP:0000812	Abnormal internal genitalia	7476	WNT7A	OMIM:276820
HP:0000812	Abnormal internal genitalia	79770	TXNDC15	OMIM:619879
HP:0000812	Abnormal internal genitalia	9939	RBM8A	ORPHA:3320
HP:0000812	Abnormal internal genitalia	9939	RBM8A	OMIM:274000
HP:0000812	Abnormal internal genitalia	53834	FGFRL1	OMIM:194190
HP:0000812	Abnormal internal genitalia	1487	CTBP1	OMIM:194190
HP:0000812	Abnormal internal genitalia	3954	LETM1	OMIM:194190
HP:0000812	Abnormal internal genitalia	7468	NSD2	OMIM:194190
HP:0000812	Abnormal internal genitalia	10815	CPLX1	OMIM:194190
HP:0000812	Abnormal internal genitalia	57545	CC2D2A	OMIM:612284
HP:0000812	Abnormal internal genitalia	2294	FOXF1	OMIM:265380
HP:0000812	Abnormal internal genitalia	23556	PIGN	ORPHA:2059
HP:0000812	Abnormal internal genitalia	157570	ESCO2	OMIM:268300
HP:0000812	Abnormal internal genitalia	7148	TNXB	OMIM:606408
HP:0000812	Abnormal internal genitalia	4281	MID1	ORPHA:2745
HP:0000812	Abnormal internal genitalia	23384	SPECC1L	OMIM:145420
HP:0000812	Abnormal internal genitalia	2255	FGF10	ORPHA:2363
HP:0000812	Abnormal internal genitalia	9839	ZEB2	ORPHA:261537
HP:0000812	Abnormal internal genitalia	9839	ZEB2	ORPHA:261552
HP:0000812	Abnormal internal genitalia	1717	DHCR7	OMIM:270400
HP:0000812	Abnormal internal genitalia	197131	UBR1	OMIM:243800
HP:0000812	Abnormal internal genitalia	54880	BCOR	OMIM:300166
HP:0000812	Abnormal internal genitalia	92002	CCNQ	OMIM:300707
HP:0000812	Abnormal internal genitalia	3110	MNX1	OMIM:176450
HP:0000812	Abnormal internal genitalia	8195	MKKS	OMIM:236700
HP:0000812	Abnormal internal genitalia	7355	SLC35A2	OMIM:300896
HP:0000812	Abnormal internal genitalia	6714	SRC	OMIM:114500
HP:0000812	Abnormal internal genitalia	201163	FLCN	OMIM:114500
HP:0000812	Abnormal internal genitalia	10395	DLC1	OMIM:114500
HP:0000812	Abnormal internal genitalia	11200	CHEK2	OMIM:114500
HP:0000812	Abnormal internal genitalia	8313	AXIN2	OMIM:114500
HP:0000812	Abnormal internal genitalia	2033	EP300	OMIM:114500
HP:0000812	Abnormal internal genitalia	5782	PTPN12	OMIM:114500
HP:0000812	Abnormal internal genitalia	5320	PLA2G2A	OMIM:114500
HP:0000812	Abnormal internal genitalia	6790	AURKA	OMIM:114500
HP:0000812	Abnormal internal genitalia	27030	MLH3	OMIM:114500
HP:0000812	Abnormal internal genitalia	581	BAX	OMIM:114500
HP:0000812	Abnormal internal genitalia	25788	RAD54B	OMIM:114500
HP:0000812	Abnormal internal genitalia	595	CCND1	OMIM:114500
HP:0000812	Abnormal internal genitalia	7097	TLR2	OMIM:114500
HP:0000812	Abnormal internal genitalia	4893	NRAS	OMIM:114500
HP:0000812	Abnormal internal genitalia	324	APC	OMIM:114500
HP:0000812	Abnormal internal genitalia	1499	CTNNB1	OMIM:114500
HP:0000812	Abnormal internal genitalia	4163	MCC	OMIM:114500
HP:0000812	Abnormal internal genitalia	5157	PDGFRL	OMIM:114500
HP:0000812	Abnormal internal genitalia	5795	PTPRJ	OMIM:114500
HP:0000812	Abnormal internal genitalia	673	BRAF	OMIM:114500
HP:0000812	Abnormal internal genitalia	5518	PPP2R1A	ORPHA:457284
HP:0000812	Abnormal internal genitalia	5077	PAX3	OMIM:193500
HP:0000812	Abnormal internal genitalia	2535	FZD2	OMIM:164745
HP:0000812	Abnormal internal genitalia	8312	AXIN1	OMIM:607864
HP:0000812	Abnormal internal genitalia	55112	DYNC2I1	ORPHA:93271
HP:0000812	Abnormal internal genitalia	57560	IFT80	ORPHA:93271
HP:0000812	Abnormal internal genitalia	57539	WDR35	ORPHA:93271
HP:0000812	Abnormal internal genitalia	79659	DYNC2H1	ORPHA:93271
HP:0000812	Abnormal internal genitalia	89891	DYNC2I2	ORPHA:93271
HP:0000812	Abnormal internal genitalia	2625	GATA3	ORPHA:2237
HP:0000812	Abnormal internal genitalia	2625	GATA3	OMIM:146255
HP:0000812	Abnormal internal genitalia	27152	INTU	OMIM:617925
HP:0000812	Abnormal internal genitalia	3209	HOXA13	OMIM:140000
HP:0000812	Abnormal internal genitalia	6650	CAPN15	OMIM:619318
HP:0000812	Abnormal internal genitalia	10293	TRAIP	OMIM:616777
HP:0000812	Abnormal internal genitalia	2074	ERCC6	OMIM:278800
HP:0000812	Abnormal internal genitalia	367	AR	ORPHA:99429
HP:0000812	Abnormal internal genitalia	1588	CYP19A1	ORPHA:91
HP:0000812	Abnormal internal genitalia	84295	PHF6	OMIM:301900
HP:0000812	Abnormal internal genitalia	7473	WNT3	OMIM:273395
HP:0000812	Abnormal internal genitalia	10568	SLC34A2	ORPHA:60025
HP:0000812	Abnormal internal genitalia	79796	ALG9	ORPHA:79328
HP:0000812	Abnormal internal genitalia	92482	BBIP1	ORPHA:110
HP:0000812	Abnormal internal genitalia	80184	CEP290	ORPHA:110
HP:0000812	Abnormal internal genitalia	11020	IFT27	ORPHA:110
HP:0000812	Abnormal internal genitalia	582	BBS1	ORPHA:110
HP:0000812	Abnormal internal genitalia	49855	SCAPER	ORPHA:110
HP:0000812	Abnormal internal genitalia	4867	NPHP1	ORPHA:110
HP:0000812	Abnormal internal genitalia	51057	WDPCP	ORPHA:110
HP:0000812	Abnormal internal genitalia	27241	BBS9	ORPHA:110
HP:0000812	Abnormal internal genitalia	84984	CEP19	ORPHA:110
HP:0000812	Abnormal internal genitalia	22954	TRIM32	ORPHA:110
HP:0000812	Abnormal internal genitalia	79738	BBS10	ORPHA:110
HP:0000812	Abnormal internal genitalia	123016	TTC8	ORPHA:110
HP:0000812	Abnormal internal genitalia	26160	IFT172	ORPHA:110
HP:0000812	Abnormal internal genitalia	583	BBS2	ORPHA:110
HP:0000812	Abnormal internal genitalia	585	BBS4	ORPHA:110
HP:0000812	Abnormal internal genitalia	54585	LZTFL1	ORPHA:110
HP:0000812	Abnormal internal genitalia	55212	BBS7	ORPHA:110
HP:0000812	Abnormal internal genitalia	10806	SDCCAG8	ORPHA:110
HP:0000812	Abnormal internal genitalia	157657	CFAP418	ORPHA:110
HP:0000812	Abnormal internal genitalia	84100	ARL6	ORPHA:110
HP:0000812	Abnormal internal genitalia	129880	BBS5	ORPHA:110
HP:0000812	Abnormal internal genitalia	80173	IFT74	ORPHA:110
HP:0000812	Abnormal internal genitalia	5781	PTPN11	OMIM:151100
HP:0000812	Abnormal internal genitalia	8882	ZPR1	OMIM:619321
HP:0000812	Abnormal internal genitalia	164045	HFM1	OMIM:615724
HP:0000812	Abnormal internal genitalia	84515	MCM8	OMIM:612885
HP:0000812	Abnormal internal genitalia	3953	LEPR	ORPHA:179494
HP:0000812	Abnormal internal genitalia	3952	LEP	ORPHA:66628
HP:0000812	Abnormal internal genitalia	135935	NOBOX	OMIM:611548
HP:0000812	Abnormal internal genitalia	1387	CREBBP	OMIM:180849
HP:0000812	Abnormal internal genitalia	7428	VHL	ORPHA:892
HP:0000812	Abnormal internal genitalia	7428	VHL	OMIM:193300
HP:0000812	Abnormal internal genitalia	5373	PMM2	ORPHA:79318
HP:0000812	Abnormal internal genitalia	23438	HARS2	OMIM:614926
HP:0000812	Abnormal internal genitalia	26040	SETBP1	ORPHA:798
HP:0000812	Abnormal internal genitalia	64218	SEMA4A	ORPHA:440437
HP:0000812	Abnormal internal genitalia	657	BMPR1A	ORPHA:440437
HP:0000812	Abnormal internal genitalia	6224	RPS20	ORPHA:440437
HP:0000812	Abnormal internal genitalia	2313	FLI1	ORPHA:370348
HP:0000812	Abnormal internal genitalia	388662	SLC6A17	ORPHA:457212
HP:0000812	Abnormal internal genitalia	5424	POLD1	OMIM:612591
HP:0000812	Abnormal internal genitalia	5424	POLD1	ORPHA:447877
HP:0000812	Abnormal internal genitalia	5426	POLE	ORPHA:447877
HP:0000812	Abnormal internal genitalia	2048	EPHB2	OMIM:603688
HP:0000812	Abnormal internal genitalia	463	ZFHX3	OMIM:176807
HP:0000812	Abnormal internal genitalia	1316	KLF6	OMIM:176807
HP:0000812	Abnormal internal genitalia	999	CDH1	OMIM:176807
HP:0000812	Abnormal internal genitalia	4601	MXI1	OMIM:176807
HP:0000812	Abnormal internal genitalia	8379	MAD1L1	OMIM:176807
HP:0000812	Abnormal internal genitalia	6041	RNASEL	OMIM:601518
HP:0000812	Abnormal internal genitalia	26585	GREM1	ORPHA:157794
HP:0000812	Abnormal internal genitalia	4913	NTHL1	OMIM:616415
HP:0000812	Abnormal internal genitalia	7373	COL14A1	ORPHA:79501
HP:0000812	Abnormal internal genitalia	79719	AAGAB	ORPHA:79501
HP:0000812	Abnormal internal genitalia	10149	ADGRG2	ORPHA:48
HP:0000812	Abnormal internal genitalia	10149	ADGRG2	OMIM:300985
HP:0000812	Abnormal internal genitalia	1080	CFTR	ORPHA:48
HP:0000812	Abnormal internal genitalia	1080	CFTR	ORPHA:586
HP:0000812	Abnormal internal genitalia	1080	CFTR	OMIM:277180
HP:0000812	Abnormal internal genitalia	6804	STX1A	ORPHA:586
HP:0000812	Abnormal internal genitalia	2947	GSTM3	ORPHA:586
HP:0000812	Abnormal internal genitalia	7040	TGFB1	ORPHA:586
HP:0000812	Abnormal internal genitalia	2729	GCLC	ORPHA:586
HP:0000812	Abnormal internal genitalia	1084	CEACAM3	ORPHA:586
HP:0000812	Abnormal internal genitalia	6556	SLC11A1	ORPHA:586
HP:0000812	Abnormal internal genitalia	51164	DCTN4	ORPHA:586
HP:0000812	Abnormal internal genitalia	3783	KCNN4	ORPHA:586
HP:0000812	Abnormal internal genitalia	4282	MIF	ORPHA:586
HP:0000812	Abnormal internal genitalia	1909	EDNRA	ORPHA:586
HP:0000812	Abnormal internal genitalia	6550	SLC9A3	ORPHA:586
HP:0000812	Abnormal internal genitalia	3162	HMOX1	ORPHA:586
HP:0000812	Abnormal internal genitalia	115019	SLC26A9	ORPHA:586
HP:0000812	Abnormal internal genitalia	3077	HFE	ORPHA:586
HP:0000812	Abnormal internal genitalia	11254	SLC6A14	ORPHA:586
HP:0000812	Abnormal internal genitalia	5265	SERPINA1	ORPHA:586
HP:0000812	Abnormal internal genitalia	22802	CLCA4	ORPHA:586
HP:0000812	Abnormal internal genitalia	4680	CEACAM6	ORPHA:586
HP:0000812	Abnormal internal genitalia	5618	PRLR	ORPHA:397685
HP:0000812	Abnormal internal genitalia	285282	RABL3	ORPHA:1333
HP:0000812	Abnormal internal genitalia	4089	SMAD4	ORPHA:1333
HP:0000812	Abnormal internal genitalia	23022	PALLD	ORPHA:1333
HP:0000812	Abnormal internal genitalia	5727	PTCH1	OMIM:109400
HP:0000812	Abnormal internal genitalia	1294	COL7A1	ORPHA:79409
HP:0000812	Abnormal internal genitalia	1277	COL1A1	ORPHA:287
HP:0000812	Abnormal internal genitalia	1289	COL5A1	ORPHA:287
HP:0000812	Abnormal internal genitalia	1290	COL5A2	ORPHA:287
HP:0000812	Abnormal internal genitalia	2737	GLI3	ORPHA:672
HP:0000812	Abnormal internal genitalia	166379	BBS12	OMIM:615989
HP:0000812	Abnormal internal genitalia	54101	RIPK4	ORPHA:1401
HP:0000812	Abnormal internal genitalia	57514	ARHGAP31	OMIM:100300
HP:0000812	Abnormal internal genitalia	7750	ZMYM2	OMIM:619522
HP:0000812	Abnormal internal genitalia	6794	STK11	ORPHA:2869
HP:0000812	Abnormal internal genitalia	1027	CDKN1B	ORPHA:276152
HP:0000812	Abnormal internal genitalia	79228	THOC6	ORPHA:363444
HP:0000812	Abnormal internal genitalia	79228	THOC6	OMIM:613680
HP:0000812	Abnormal internal genitalia	5340	PLG	ORPHA:722
HP:0000812	Abnormal internal genitalia	10847	SRCAP	ORPHA:2044
HP:0000812	Abnormal internal genitalia	10847	SRCAP	OMIM:136140
HP:0000812	Abnormal internal genitalia	23405	DICER1	OMIM:180295
HP:0000812	Abnormal internal genitalia	8626	TP63	OMIM:106260
HP:0000812	Abnormal internal genitalia	2783	GNB2	OMIM:619503
HP:0000812	Abnormal internal genitalia	8930	MBD4	OMIM:619975
HP:0000812	Abnormal internal genitalia	2624	GATA2	OMIM:614172
HP:0000812	Abnormal internal genitalia	5970	RELA	OMIM:618287
HP:0000812	Abnormal internal genitalia	9075	CLDN2	OMIM:301060
HP:0000812	Abnormal internal genitalia	10046	MAMLD1	ORPHA:456328
HP:0000812	Abnormal internal genitalia	4534	MTM1	ORPHA:456328
HP:0000812	Abnormal internal genitalia	4292	MLH1	OMIM:158320
HP:0000812	Abnormal internal genitalia	4292	MLH1	ORPHA:144
HP:0000812	Abnormal internal genitalia	4436	MSH2	OMIM:158320
HP:0000812	Abnormal internal genitalia	4436	MSH2	ORPHA:144
HP:0000812	Abnormal internal genitalia	2263	FGFR2	ORPHA:87
HP:0000812	Abnormal internal genitalia	54894	RNF43	ORPHA:157798
HP:0000812	Abnormal internal genitalia	7486	WRN	ORPHA:902
HP:0000812	Abnormal internal genitalia	1029	CDKN2A	ORPHA:524
HP:0000812	Abnormal internal genitalia	4193	MDM2	ORPHA:524
HP:0000812	Abnormal internal genitalia	5892	RAD51D	ORPHA:145
HP:0000812	Abnormal internal genitalia	10111	RAD50	ORPHA:145
HP:0000812	Abnormal internal genitalia	580	BARD1	ORPHA:145
HP:0000812	Abnormal internal genitalia	4683	NBN	ORPHA:145
HP:0000812	Abnormal internal genitalia	4361	MRE11	ORPHA:145
HP:0000812	Abnormal internal genitalia	4072	EPCAM	ORPHA:144
HP:0000812	Abnormal internal genitalia	5395	PMS2	ORPHA:144
HP:0000812	Abnormal internal genitalia	5395	PMS2	OMIM:614337
HP:0000812	Abnormal internal genitalia	22909	FAN1	ORPHA:144
HP:0000812	Abnormal internal genitalia	3845	KRAS	ORPHA:144
HP:0000812	Abnormal internal genitalia	2956	MSH6	ORPHA:144
HP:0000812	Abnormal internal genitalia	2956	MSH6	OMIM:614350
HP:0000812	Abnormal internal genitalia	5378	PMS1	ORPHA:144
HP:0000812	Abnormal internal genitalia	80326	WNT10A	ORPHA:50944
HP:0000812	Abnormal internal genitalia	2130	EWSR1	ORPHA:83469
HP:0000812	Abnormal internal genitalia	2304	FOXE1	OMIM:616534
HP:0000812	Abnormal internal genitalia	65998	ZFTA	ORPHA:251636
HP:0000812	Abnormal internal genitalia	3418	IDH2	ORPHA:163634
HP:0000812	Abnormal internal genitalia	3417	IDH1	ORPHA:163634
HP:0000812	Abnormal internal genitalia	10734	STAG3	OMIM:615723
HP:0000812	Abnormal internal genitalia	161742	SPRED1	ORPHA:137605
HP:0000812	Abnormal internal genitalia	4000	LMNA	ORPHA:79474
HP:0000812	Abnormal internal genitalia	9817	KEAP1	ORPHA:276399
HP:0000812	Abnormal internal genitalia	5071	PRKN	OMIM:167000
HP:0000812	Abnormal internal genitalia	4978	OPCML	OMIM:167000
HP:0000812	Abnormal internal genitalia	2064	ERBB2	OMIM:167000
HP:0000812	Abnormal internal genitalia	1281	COL3A1	OMIM:130050
HP:0000812	Abnormal internal genitalia	1281	COL3A1	ORPHA:286
HP:0000812	Abnormal internal genitalia	4088	SMAD3	OMIM:613795
HP:0000812	Abnormal internal genitalia	4665	NAB2	ORPHA:2126
HP:0000812	Abnormal internal genitalia	6778	STAT6	ORPHA:2126
HP:0000812	Abnormal internal genitalia	9184	BUB3	ORPHA:1052
HP:0000812	Abnormal internal genitalia	699	BUB1	ORPHA:1052
HP:0000812	Abnormal internal genitalia	9702	CEP57	ORPHA:1052
HP:0000812	Abnormal internal genitalia	9319	TRIP13	ORPHA:1052
HP:0000812	Abnormal internal genitalia	701	BUB1B	ORPHA:1052
HP:0000812	Abnormal internal genitalia	2271	FH	ORPHA:523
HP:0000812	Abnormal internal genitalia	1288	COL4A6	ORPHA:1018
HP:0000812	Abnormal internal genitalia	1287	COL4A5	ORPHA:1018
HP:0000812	Abnormal internal genitalia	7046	TGFBR1	ORPHA:60030
HP:0000812	Abnormal internal genitalia	10526	IPO8	ORPHA:60030
HP:0000812	Abnormal internal genitalia	7048	TGFBR2	ORPHA:60030
HP:0000812	Abnormal internal genitalia	4693	NDP	ORPHA:649
HP:0000812	Abnormal internal genitalia	1583	CYP11A1	ORPHA:289548
HP:0000812	Abnormal internal genitalia	1583	CYP11A1	ORPHA:168558
HP:0000812	Abnormal internal genitalia	7026	NR2F2	OMIM:618901
HP:0000812	Abnormal internal genitalia	6716	SRD5A2	ORPHA:753
HP:0000812	Abnormal internal genitalia	7157	TP53	OMIM:151623
HP:0000816	Abnormality of Krebs cycle metabolism	4535	MT-ND1	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4536	MT-ND2	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4537	MT-ND3	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4538	MT-ND4	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4567	MT-TL1	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4578	MT-TW	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4577	MT-TV	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4508	MT-ATP6	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4540	MT-ND5	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4541	MT-ND6	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4566	MT-TK	ORPHA:255210
HP:0000816	Abnormality of Krebs cycle metabolism	4967	OGDH	ORPHA:31
HP:0000816	Abnormality of Krebs cycle metabolism	2395	FXN	OMIM:229300
HP:0000816	Abnormality of Krebs cycle metabolism	27249	MMADHC	OMIM:277410
HP:0000816	Abnormality of Krebs cycle metabolism	326625	MMAB	OMIM:251110
HP:0000816	Abnormality of Krebs cycle metabolism	25974	MMACHC	OMIM:277400
HP:0000816	Abnormality of Krebs cycle metabolism	5052	PRDX1	OMIM:277400
HP:0000816	Abnormality of Krebs cycle metabolism	166785	MMAA	OMIM:251100
HP:0000816	Abnormality of Krebs cycle metabolism	2271	FH	OMIM:606812
HP:0000816	Abnormality of Krebs cycle metabolism	2271	FH	OMIM:150800
HP:0000817	Reduced eye contact	388015	RTL1	ORPHA:254531
HP:0000817	Reduced eye contact	8788	DLK1	ORPHA:254531
HP:0000817	Reduced eye contact	55384	MEG3	ORPHA:254531
HP:0000817	Reduced eye contact	158	ADSL	OMIM:103050
HP:0000817	Reduced eye contact	6792	CDKL5	OMIM:300672
HP:0000817	Reduced eye contact	6792	CDKL5	ORPHA:3095
HP:0000817	Reduced eye contact	6792	CDKL5	ORPHA:505652
HP:0000817	Reduced eye contact	8243	SMC1A	OMIM:301044
HP:0000817	Reduced eye contact	8243	SMC1A	ORPHA:3095
HP:0000817	Reduced eye contact	54539	NDUFB11	ORPHA:2609
HP:0000817	Reduced eye contact	25915	NDUFAF3	ORPHA:2609
HP:0000817	Reduced eye contact	25915	NDUFAF3	OMIM:618240
HP:0000817	Reduced eye contact	51103	NDUFAF1	ORPHA:2609
HP:0000817	Reduced eye contact	91942	NDUFAF2	ORPHA:2609
HP:0000817	Reduced eye contact	51300	TIMMDC1	ORPHA:2609
HP:0000817	Reduced eye contact	4716	NDUFB10	ORPHA:2609
HP:0000817	Reduced eye contact	4723	NDUFV1	ORPHA:2609
HP:0000817	Reduced eye contact	55572	FOXRED1	ORPHA:2609
HP:0000817	Reduced eye contact	284184	NDUFAF8	ORPHA:2609
HP:0000817	Reduced eye contact	55863	TMEM126B	ORPHA:2609
HP:0000817	Reduced eye contact	4535	MT-ND1	ORPHA:2609
HP:0000817	Reduced eye contact	4537	MT-ND3	ORPHA:2609
HP:0000817	Reduced eye contact	4729	NDUFV2	ORPHA:2609
HP:0000817	Reduced eye contact	4694	NDUFA1	ORPHA:2609
HP:0000817	Reduced eye contact	4720	NDUFS2	ORPHA:2609
HP:0000817	Reduced eye contact	4724	NDUFS4	ORPHA:2609
HP:0000817	Reduced eye contact	4724	NDUFS4	OMIM:252010
HP:0000817	Reduced eye contact	4726	NDUFS6	ORPHA:2609
HP:0000817	Reduced eye contact	4728	NDUFS8	ORPHA:2609
HP:0000817	Reduced eye contact	4722	NDUFS3	ORPHA:2609
HP:0000817	Reduced eye contact	79133	NDUFAF5	ORPHA:2609
HP:0000817	Reduced eye contact	126328	NDUFA11	ORPHA:2609
HP:0000817	Reduced eye contact	4709	NDUFB3	ORPHA:2609
HP:0000817	Reduced eye contact	80224	NUBPL	ORPHA:2609
HP:0000817	Reduced eye contact	29078	NDUFAF4	ORPHA:2609
HP:0000817	Reduced eye contact	29078	NDUFAF4	OMIM:618237
HP:0000817	Reduced eye contact	374291	NDUFS7	ORPHA:2609
HP:0000817	Reduced eye contact	4700	NDUFA6	ORPHA:2609
HP:0000817	Reduced eye contact	4536	MT-ND2	ORPHA:2609
HP:0000817	Reduced eye contact	4719	NDUFS1	ORPHA:2609
HP:0000817	Reduced eye contact	4715	NDUFB9	ORPHA:2609
HP:0000817	Reduced eye contact	79876	UBA5	OMIM:617132
HP:0000817	Reduced eye contact	23013	SPEN	OMIM:619312
HP:0000817	Reduced eye contact	340533	NEXMIF	OMIM:300912
HP:0000817	Reduced eye contact	23316	CUX2	OMIM:618141
HP:0000817	Reduced eye contact	2892	GRIA3	ORPHA:364028
HP:0000817	Reduced eye contact	8506	CNTNAP1	OMIM:618186
HP:0000817	Reduced eye contact	55773	TBC1D23	OMIM:617695
HP:0000817	Reduced eye contact	6711	SPTBN1	OMIM:619475
HP:0000817	Reduced eye contact	10564	ARFGEF2	OMIM:608097
HP:0000817	Reduced eye contact	2290	FOXG1	OMIM:613454
HP:0000817	Reduced eye contact	23394	ADNP	OMIM:615873
HP:0000817	Reduced eye contact	85476	GFM1	OMIM:609060
HP:0000817	Reduced eye contact	9254	CACNA2D2	OMIM:618501
HP:0000817	Reduced eye contact	4983	OPHN1	ORPHA:137831
HP:0000817	Reduced eye contact	7360	UGP2	OMIM:618744
HP:0000817	Reduced eye contact	85440	DOCK7	ORPHA:411986
HP:0000817	Reduced eye contact	53616	ADAM22	OMIM:617933
HP:0000817	Reduced eye contact	4191	MDH2	OMIM:617339
HP:0000817	Reduced eye contact	85358	SHANK3	OMIM:606232
HP:0000817	Reduced eye contact	22845	DOLK	ORPHA:91131
HP:0000817	Reduced eye contact	170302	ARX	OMIM:308350
HP:0000817	Reduced eye contact	26047	CNTNAP2	ORPHA:163681
HP:0000817	Reduced eye contact	80222	TARS2	OMIM:615918
HP:0000817	Reduced eye contact	22854	NTNG1	ORPHA:3095
HP:0000817	Reduced eye contact	9568	GABBR2	ORPHA:3095
HP:0000817	Reduced eye contact	4204	MECP2	ORPHA:3095
HP:0000817	Reduced eye contact	4204	MECP2	OMIM:300260
HP:0000817	Reduced eye contact	60558	GUF1	OMIM:617065
HP:0000817	Reduced eye contact	374354	NHLRC2	OMIM:618278
HP:0000817	Reduced eye contact	6857	SYT1	ORPHA:522077
HP:0000817	Reduced eye contact	79868	ALG13	OMIM:300884
HP:0000817	Reduced eye contact	79868	ALG13	ORPHA:324422
HP:0000817	Reduced eye contact	5917	RARS1	ORPHA:438114
HP:0000817	Reduced eye contact	1352	COX10	OMIM:619046
HP:0000817	Reduced eye contact	84340	GFM2	OMIM:618397
HP:0000817	Reduced eye contact	84340	GFM2	ORPHA:565624
HP:0000817	Reduced eye contact	23287	AGTPBP1	OMIM:618276
HP:0000817	Reduced eye contact	477	ATP1A2	OMIM:619605
HP:0000817	Reduced eye contact	2904	GRIN2B	OMIM:616139
HP:0000817	Reduced eye contact	6487	ST3GAL3	OMIM:615006
HP:0000817	Reduced eye contact	2902	GRIN1	OMIM:617820
HP:0000817	Reduced eye contact	2555	GABRA2	OMIM:618557
HP:0000817	Reduced eye contact	10681	GNB5	ORPHA:542306
HP:0000817	Reduced eye contact	57582	KCNT1	OMIM:614959
HP:0000817	Reduced eye contact	10978	CLP1	OMIM:615803
HP:0000817	Reduced eye contact	54820	NDE1	OMIM:605013
HP:0000817	Reduced eye contact	10522	DEAF1	ORPHA:468620
HP:0000817	Reduced eye contact	10522	DEAF1	OMIM:615828
HP:0000817	Reduced eye contact	56652	TWNK	OMIM:271245
HP:0000817	Reduced eye contact	55777	MBD5	OMIM:156200
HP:0000817	Reduced eye contact	4718	NDUFC2	OMIM:619170
HP:0000817	Reduced eye contact	2590	GALNT2	OMIM:618885
HP:0000817	Reduced eye contact	2332	FMR1	ORPHA:449291
HP:0000817	Reduced eye contact	2332	FMR1	OMIM:300624
HP:0000817	Reduced eye contact	85365	ALG2	OMIM:607906
HP:0000817	Reduced eye contact	111	ADCY5	OMIM:619651
HP:0000817	Reduced eye contact	8120	AP3B2	OMIM:617276
HP:0000817	Reduced eye contact	125988	MICOS13	OMIM:618329
HP:0000817	Reduced eye contact	816	CAMK2B	OMIM:617799
HP:0000817	Reduced eye contact	51227	PIGP	OMIM:617599
HP:0000817	Reduced eye contact	201163	FLCN	OMIM:610883
HP:0000817	Reduced eye contact	51079	NDUFA13	OMIM:618249
HP:0000817	Reduced eye contact	81615	TMEM163	OMIM:620243
HP:0000817	Reduced eye contact	259232	NALCN	OMIM:615419
HP:0000817	Reduced eye contact	8604	SLC25A12	OMIM:612949
HP:0000817	Reduced eye contact	22827	PUF60	ORPHA:508488
HP:0000817	Reduced eye contact	5422	POLA1	OMIM:301030
HP:0000817	Reduced eye contact	6576	SLC25A1	OMIM:615182
HP:0000817	Reduced eye contact	9758	FRMPD4	OMIM:300983
HP:0000817	Reduced eye contact	4761	NEUROD2	OMIM:618374
HP:0000817	Reduced eye contact	3658	IREB2	OMIM:618451
HP:0000817	Reduced eye contact	10243	GPHN	OMIM:615501
HP:0000817	Reduced eye contact	4208	MEF2C	OMIM:613443
HP:0000817	Reduced eye contact	4915	NTRK2	OMIM:613886
HP:0000817	Reduced eye contact	2744	GLS	OMIM:618339
HP:0000817	Reduced eye contact	81603	TRIM8	OMIM:619428
HP:0000817	Reduced eye contact	9230	RAB11B	OMIM:617807
HP:0000817	Reduced eye contact	284111	SLC13A5	OMIM:615905
HP:0000818	Abnormality of the endocrine system	1497	CTNS	OMIM:219800
HP:0000818	Abnormality of the endocrine system	4204	MECP2	OMIM:300055
HP:0000818	Abnormality of the endocrine system	1968	EIF2S3	OMIM:300148
HP:0000818	Abnormality of the endocrine system	5424	POLD1	OMIM:615381
HP:0000818	Abnormality of the endocrine system	81848	SPRY4	ORPHA:432
HP:0000818	Abnormality of the endocrine system	81848	SPRY4	OMIM:615266
HP:0000818	Abnormality of the endocrine system	81848	SPRY4	OMIM:146110
HP:0000818	Abnormality of the endocrine system	81848	SPRY4	ORPHA:478
HP:0000818	Abnormality of the endocrine system	128674	PROKR2	ORPHA:432
HP:0000818	Abnormality of the endocrine system	128674	PROKR2	OMIM:244200
HP:0000818	Abnormality of the endocrine system	128674	PROKR2	ORPHA:478
HP:0000818	Abnormality of the endocrine system	60675	PROK2	ORPHA:432
HP:0000818	Abnormality of the endocrine system	60675	PROK2	OMIM:610628
HP:0000818	Abnormality of the endocrine system	60675	PROK2	ORPHA:478
HP:0000818	Abnormality of the endocrine system	55636	CHD7	ORPHA:432
HP:0000818	Abnormality of the endocrine system	55636	CHD7	OMIM:612370
HP:0000818	Abnormality of the endocrine system	55636	CHD7	ORPHA:138
HP:0000818	Abnormality of the endocrine system	55636	CHD7	OMIM:214800
HP:0000818	Abnormality of the endocrine system	55636	CHD7	ORPHA:478
HP:0000818	Abnormality of the endocrine system	6870	TACR3	ORPHA:432
HP:0000818	Abnormality of the endocrine system	6870	TACR3	OMIM:614840
HP:0000818	Abnormality of the endocrine system	6870	TACR3	ORPHA:478
HP:0000818	Abnormality of the endocrine system	1848	DUSP6	ORPHA:432
HP:0000818	Abnormality of the endocrine system	1848	DUSP6	OMIM:615269
HP:0000818	Abnormality of the endocrine system	1848	DUSP6	OMIM:146110
HP:0000818	Abnormality of the endocrine system	1848	DUSP6	ORPHA:478
HP:0000818	Abnormality of the endocrine system	26012	NSMF	ORPHA:432
HP:0000818	Abnormality of the endocrine system	26012	NSMF	OMIM:614838
HP:0000818	Abnormality of the endocrine system	55717	WDR11	ORPHA:432
HP:0000818	Abnormality of the endocrine system	55717	WDR11	OMIM:146110
HP:0000818	Abnormality of the endocrine system	55717	WDR11	OMIM:614858
HP:0000818	Abnormality of the endocrine system	55717	WDR11	ORPHA:478
HP:0000818	Abnormality of the endocrine system	9394	HS6ST1	ORPHA:432
HP:0000818	Abnormality of the endocrine system	9394	HS6ST1	ORPHA:478
HP:0000818	Abnormality of the endocrine system	2796	GNRH1	ORPHA:432
HP:0000818	Abnormality of the endocrine system	2796	GNRH1	OMIM:614841
HP:0000818	Abnormality of the endocrine system	2796	GNRH1	OMIM:146110
HP:0000818	Abnormality of the endocrine system	2798	GNRHR	ORPHA:432
HP:0000818	Abnormality of the endocrine system	2798	GNRHR	OMIM:146110
HP:0000818	Abnormality of the endocrine system	84634	KISS1R	ORPHA:432
HP:0000818	Abnormality of the endocrine system	84634	KISS1R	OMIM:614837
HP:0000818	Abnormality of the endocrine system	6866	TAC3	ORPHA:432
HP:0000818	Abnormality of the endocrine system	6866	TAC3	OMIM:614839
HP:0000818	Abnormality of the endocrine system	8822	FGF17	ORPHA:432
HP:0000818	Abnormality of the endocrine system	8822	FGF17	OMIM:146110
HP:0000818	Abnormality of the endocrine system	8822	FGF17	ORPHA:478
HP:0000818	Abnormality of the endocrine system	3814	KISS1	ORPHA:432
HP:0000818	Abnormality of the endocrine system	3814	KISS1	OMIM:614842
HP:0000818	Abnormality of the endocrine system	5888	RAD51	ORPHA:238722
HP:0000818	Abnormality of the endocrine system	10126	DNAL4	ORPHA:238722
HP:0000818	Abnormality of the endocrine system	9423	NTN1	ORPHA:238722
HP:0000818	Abnormality of the endocrine system	1630	DCC	ORPHA:238722
HP:0000818	Abnormality of the endocrine system	1630	DCC	ORPHA:478
HP:0000818	Abnormality of the endocrine system	4558	MT-TF	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4572	MT-TQ	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4512	MT-CO1	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4513	MT-CO2	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4514	MT-CO3	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4578	MT-TW	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4540	MT-ND5	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4541	MT-ND6	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4535	MT-ND1	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4538	MT-ND4	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4567	MT-TL1	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4574	MT-TS1	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4575	MT-TS2	ORPHA:550
HP:0000818	Abnormality of the endocrine system	4564	MT-TH	ORPHA:550
HP:0000818	Abnormality of the endocrine system	55703	POLR3B	OMIM:614381
HP:0000818	Abnormality of the endocrine system	55703	POLR3B	OMIM:607694
HP:0000818	Abnormality of the endocrine system	51728	POLR3K	OMIM:619310
HP:0000818	Abnormality of the endocrine system	6938	TCF12	OMIM:619718
HP:0000818	Abnormality of the endocrine system	100151683	RNU4ATAC	ORPHA:353298
HP:0000818	Abnormality of the endocrine system	148738	HJV	OMIM:602390
HP:0000818	Abnormality of the endocrine system	8626	TP63	OMIM:604292
HP:0000818	Abnormality of the endocrine system	7681	MKRN3	OMIM:176270
HP:0000818	Abnormality of the endocrine system	3653	IPW	OMIM:176270
HP:0000818	Abnormality of the endocrine system	791114	PWRN1	OMIM:176270
HP:0000818	Abnormality of the endocrine system	100033413	SNORD116-1	OMIM:176270
HP:0000818	Abnormality of the endocrine system	8924	HERC2	OMIM:176270
HP:0000818	Abnormality of the endocrine system	145624	PWAR1	OMIM:176270
HP:0000818	Abnormality of the endocrine system	23742	NPAP1	OMIM:176270
HP:0000818	Abnormality of the endocrine system	338433	SNORD115-1	OMIM:176270
HP:0000818	Abnormality of the endocrine system	9150	CTDP1	OMIM:604168
HP:0000818	Abnormality of the endocrine system	9150	CTDP1	ORPHA:48431
HP:0000818	Abnormality of the endocrine system	2488	FSHB	ORPHA:52901
HP:0000818	Abnormality of the endocrine system	9049	AIP	ORPHA:2965
HP:0000818	Abnormality of the endocrine system	9049	AIP	ORPHA:963
HP:0000818	Abnormality of the endocrine system	1363	CPE	OMIM:619326
HP:0000818	Abnormality of the endocrine system	54476	RNF216	OMIM:212840
HP:0000818	Abnormality of the endocrine system	54476	RNF216	ORPHA:1173
HP:0000818	Abnormality of the endocrine system	25782	RAB3GAP2	OMIM:212720
HP:0000818	Abnormality of the endocrine system	25782	RAB3GAP2	ORPHA:1387
HP:0000818	Abnormality of the endocrine system	10908	PNPLA6	OMIM:275400
HP:0000818	Abnormality of the endocrine system	10908	PNPLA6	ORPHA:1180
HP:0000818	Abnormality of the endocrine system	10908	PNPLA6	ORPHA:1173
HP:0000818	Abnormality of the endocrine system	10908	PNPLA6	OMIM:215470
HP:0000818	Abnormality of the endocrine system	9723	SEMA3E	ORPHA:138
HP:0000818	Abnormality of the endocrine system	9723	SEMA3E	OMIM:146110
HP:0000818	Abnormality of the endocrine system	5428	POLG	ORPHA:298
HP:0000818	Abnormality of the endocrine system	1890	TYMP	ORPHA:298
HP:0000818	Abnormality of the endocrine system	3980	LIG3	ORPHA:298
HP:0000818	Abnormality of the endocrine system	50484	RRM2B	ORPHA:298
HP:0000818	Abnormality of the endocrine system	5980	REV3L	ORPHA:570
HP:0000818	Abnormality of the endocrine system	23129	PLXND1	ORPHA:570
HP:0000818	Abnormality of the endocrine system	6638	SNRPN	ORPHA:177904
HP:0000818	Abnormality of the endocrine system	6638	SNRPN	ORPHA:177901
HP:0000818	Abnormality of the endocrine system	6638	SNRPN	ORPHA:177910
HP:0000818	Abnormality of the endocrine system	6638	SNRPN	ORPHA:177907
HP:0000818	Abnormality of the endocrine system	6638	SNRPN	ORPHA:98754
HP:0000818	Abnormality of the endocrine system	4692	NDN	ORPHA:177904
HP:0000818	Abnormality of the endocrine system	4692	NDN	ORPHA:177901
HP:0000818	Abnormality of the endocrine system	4692	NDN	ORPHA:177910
HP:0000818	Abnormality of the endocrine system	4692	NDN	ORPHA:98754
HP:0000818	Abnormality of the endocrine system	4948	OCA2	ORPHA:177904
HP:0000818	Abnormality of the endocrine system	4948	OCA2	ORPHA:177901
HP:0000818	Abnormality of the endocrine system	4948	OCA2	ORPHA:98754
HP:0000818	Abnormality of the endocrine system	1108	CHD4	OMIM:617159
HP:0000818	Abnormality of the endocrine system	55366	LGR4	OMIM:619613
HP:0000818	Abnormality of the endocrine system	83550	GPR101	ORPHA:963
HP:0000818	Abnormality of the endocrine system	5422	POLA1	OMIM:301030
HP:0000818	Abnormality of the endocrine system	23347	SMCHD1	OMIM:603457
HP:0000818	Abnormality of the endocrine system	23312	DMXL2	OMIM:616113
HP:0000818	Abnormality of the endocrine system	23312	DMXL2	ORPHA:453533
HP:0000818	Abnormality of the endocrine system	558	AXL	OMIM:146110
HP:0000818	Abnormality of the endocrine system	10011	SRA1	OMIM:146110
HP:0000818	Abnormality of the endocrine system	285025	CCDC141	OMIM:146110
HP:0000818	Abnormality of the endocrine system	285025	CCDC141	ORPHA:478
HP:0000818	Abnormality of the endocrine system	389549	FEZF1	OMIM:146110
HP:0000818	Abnormality of the endocrine system	389549	FEZF1	ORPHA:478
HP:0000818	Abnormality of the endocrine system	4990	SIX6	OMIM:206900
HP:0000818	Abnormality of the endocrine system	6657	SOX2	OMIM:206900
HP:0000818	Abnormality of the endocrine system	3077	HFE	OMIM:235200
HP:0000818	Abnormality of the endocrine system	3077	HFE	ORPHA:465508
HP:0000818	Abnormality of the endocrine system	650	BMP2	OMIM:235200
HP:0000818	Abnormality of the endocrine system	3293	HSD17B3	ORPHA:752
HP:0000818	Abnormality of the endocrine system	55131	RBM28	ORPHA:157954
HP:0000818	Abnormality of the endocrine system	55131	RBM28	OMIM:612079
HP:0000818	Abnormality of the endocrine system	6804	STX1A	ORPHA:904
HP:0000818	Abnormality of the endocrine system	7461	CLIP2	ORPHA:904
HP:0000818	Abnormality of the endocrine system	84277	DNAJC30	ORPHA:904
HP:0000818	Abnormality of the endocrine system	8468	FKBP6	ORPHA:904
HP:0000818	Abnormality of the endocrine system	5982	RFC2	ORPHA:904
HP:0000818	Abnormality of the endocrine system	2969	GTF2I	ORPHA:904
HP:0000818	Abnormality of the endocrine system	3984	LIMK1	ORPHA:904
HP:0000818	Abnormality of the endocrine system	9569	GTF2IRD1	ORPHA:904
HP:0000818	Abnormality of the endocrine system	155382	VPS37D	ORPHA:904
HP:0000818	Abnormality of the endocrine system	155368	METTL27	ORPHA:904
HP:0000818	Abnormality of the endocrine system	114049	BUD23	ORPHA:904
HP:0000818	Abnormality of the endocrine system	7458	EIF4H	ORPHA:904
HP:0000818	Abnormality of the endocrine system	84163	GTF2IRD2	ORPHA:904
HP:0000818	Abnormality of the endocrine system	9275	BCL7B	ORPHA:904
HP:0000818	Abnormality of the endocrine system	26608	TBL2	ORPHA:904
HP:0000818	Abnormality of the endocrine system	653361	NCF1	ORPHA:904
HP:0000818	Abnormality of the endocrine system	135886	TMEM270	ORPHA:904
HP:0000818	Abnormality of the endocrine system	51085	MLXIPL	ORPHA:904
HP:0000818	Abnormality of the endocrine system	9031	BAZ1B	ORPHA:904
HP:0000818	Abnormality of the endocrine system	2006	ELN	ORPHA:904
HP:0000818	Abnormality of the endocrine system	286	ANK1	ORPHA:251066
HP:0000818	Abnormality of the endocrine system	7036	TFR2	OMIM:604250
HP:0000818	Abnormality of the endocrine system	3170	FOXA2	ORPHA:95494
HP:0000818	Abnormality of the endocrine system	5015	OTX2	ORPHA:95494
HP:0000818	Abnormality of the endocrine system	3972	LHB	OMIM:228300
HP:0000818	Abnormality of the endocrine system	59336	PRDM13	OMIM:619761
HP:0000818	Abnormality of the endocrine system	81887	LAS1L	ORPHA:3459
HP:0000818	Abnormality of the endocrine system	55869	HDAC8	ORPHA:3459
HP:0000818	Abnormality of the endocrine system	5373	PMM2	ORPHA:79318
HP:0000818	Abnormality of the endocrine system	8643	PTCH2	ORPHA:377
HP:0000818	Abnormality of the endocrine system	2706	GJB2	ORPHA:494
HP:0000818	Abnormality of the endocrine system	5122	PCSK1	OMIM:600955
HP:0000818	Abnormality of the endocrine system	22930	RAB3GAP1	ORPHA:1387
HP:0000818	Abnormality of the endocrine system	22930	RAB3GAP1	OMIM:619420
HP:0000818	Abnormality of the endocrine system	654	BMP6	ORPHA:465508
HP:0000818	Abnormality of the endocrine system	22800	RRAS2	ORPHA:648
HP:0000818	Abnormality of the endocrine system	867	CBL	ORPHA:648
HP:0000818	Abnormality of the endocrine system	8216	LZTR1	ORPHA:648
HP:0000818	Abnormality of the endocrine system	6016	RIT1	ORPHA:648
HP:0000818	Abnormality of the endocrine system	6237	RRAS	ORPHA:648
HP:0000818	Abnormality of the endocrine system	5894	RAF1	ORPHA:648
HP:0000818	Abnormality of the endocrine system	22808	MRAS	ORPHA:648
HP:0000818	Abnormality of the endocrine system	3845	KRAS	ORPHA:648
HP:0000818	Abnormality of the endocrine system	200734	SPRED2	ORPHA:648
HP:0000818	Abnormality of the endocrine system	6654	SOS1	ORPHA:648
HP:0000818	Abnormality of the endocrine system	6655	SOS2	ORPHA:648
HP:0000818	Abnormality of the endocrine system	5781	PTPN11	ORPHA:648
HP:0000818	Abnormality of the endocrine system	5922	RASA2	ORPHA:648
HP:0000818	Abnormality of the endocrine system	3730	ANOS1	OMIM:308700
HP:0000818	Abnormality of the endocrine system	3730	ANOS1	ORPHA:478
HP:0000818	Abnormality of the endocrine system	1761	DMRT1	ORPHA:242
HP:0000818	Abnormality of the endocrine system	6662	SOX9	ORPHA:242
HP:0000818	Abnormality of the endocrine system	84733	CBX2	ORPHA:242
HP:0000818	Abnormality of the endocrine system	50846	DHH	ORPHA:242
HP:0000818	Abnormality of the endocrine system	4214	MAP3K1	ORPHA:242
HP:0000818	Abnormality of the endocrine system	2516	NR5A1	ORPHA:242
HP:0000818	Abnormality of the endocrine system	7490	WT1	ORPHA:242
HP:0000818	Abnormality of the endocrine system	57647	DHX37	ORPHA:242
HP:0000818	Abnormality of the endocrine system	6736	SRY	ORPHA:242
HP:0000818	Abnormality of the endocrine system	80067	DCAF17	OMIM:241080
HP:0000818	Abnormality of the endocrine system	10371	SEMA3A	ORPHA:478
HP:0000818	Abnormality of the endocrine system	23767	FLRT3	ORPHA:478
HP:0000818	Abnormality of the endocrine system	79625	NDNF	ORPHA:478
HP:0000818	Abnormality of the endocrine system	54756	IL17RD	ORPHA:478
HP:0000818	Abnormality of the endocrine system	6663	SOX10	ORPHA:478
HP:0000818	Abnormality of the endocrine system	6658	SOX3	ORPHA:90695
HP:0000818	Abnormality of the endocrine system	3479	IGF1	ORPHA:73272
HP:0000818	Abnormality of the endocrine system	27183	VPS4A	OMIM:619273
HP:0000818	Abnormality of the endocrine system	8450	CUL4B	OMIM:300354
HP:0000818	Abnormality of the endocrine system	8450	CUL4B	ORPHA:85293
HP:0000818	Abnormality of the endocrine system	83932	SPRTN	OMIM:616200
HP:0000818	Abnormality of the endocrine system	2187	FANCB	OMIM:300514
HP:0000818	Abnormality of the endocrine system	2187	FANCB	ORPHA:84
HP:0000818	Abnormality of the endocrine system	11020	IFT27	OMIM:615996
HP:0000818	Abnormality of the endocrine system	11020	IFT27	ORPHA:110
HP:0000818	Abnormality of the endocrine system	55240	STEAP3	OMIM:615234
HP:0000818	Abnormality of the endocrine system	55240	STEAP3	ORPHA:300298
HP:0000818	Abnormality of the endocrine system	10806	SDCCAG8	OMIM:615993
HP:0000818	Abnormality of the endocrine system	10806	SDCCAG8	ORPHA:110
HP:0000818	Abnormality of the endocrine system	54585	LZTFL1	OMIM:615994
HP:0000818	Abnormality of the endocrine system	54585	LZTFL1	ORPHA:110
HP:0000818	Abnormality of the endocrine system	9401	RECQL4	OMIM:268400
HP:0000818	Abnormality of the endocrine system	9342	SNAP29	ORPHA:66631
HP:0000818	Abnormality of the endocrine system	5818	NECTIN1	ORPHA:3253
HP:0000818	Abnormality of the endocrine system	1760	DMPK	OMIM:160900
HP:0000818	Abnormality of the endocrine system	10059	DNM1L	ORPHA:98673
HP:0000818	Abnormality of the endocrine system	4976	OPA1	ORPHA:98673
HP:0000818	Abnormality of the endocrine system	2068	ERCC2	ORPHA:1466
HP:0000818	Abnormality of the endocrine system	2068	ERCC2	OMIM:601675
HP:0000818	Abnormality of the endocrine system	2068	ERCC2	ORPHA:910
HP:0000818	Abnormality of the endocrine system	2067	ERCC1	ORPHA:1466
HP:0000818	Abnormality of the endocrine system	2074	ERCC6	ORPHA:1466
HP:0000818	Abnormality of the endocrine system	2073	ERCC5	ORPHA:1466
HP:0000818	Abnormality of the endocrine system	2073	ERCC5	ORPHA:910
HP:0000818	Abnormality of the endocrine system	3952	LEP	OMIM:614962
HP:0000818	Abnormality of the endocrine system	412	STS	ORPHA:281090
HP:0000818	Abnormality of the endocrine system	79140	CCDC28B	OMIM:209900
HP:0000818	Abnormality of the endocrine system	26146	TRAF3IP1	OMIM:616629
HP:0000818	Abnormality of the endocrine system	672	BRCA1	ORPHA:84
HP:0000818	Abnormality of the endocrine system	10459	MAD2L2	ORPHA:84
HP:0000818	Abnormality of the endocrine system	7516	XRCC2	ORPHA:84
HP:0000818	Abnormality of the endocrine system	29089	UBE2T	ORPHA:84
HP:0000818	Abnormality of the endocrine system	675	BRCA2	ORPHA:84
HP:0000818	Abnormality of the endocrine system	55120	FANCL	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2177	FANCD2	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2175	FANCA	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2176	FANCC	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2178	FANCE	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2188	FANCF	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2189	FANCG	ORPHA:84
HP:0000818	Abnormality of the endocrine system	5889	RAD51C	ORPHA:84
HP:0000818	Abnormality of the endocrine system	55159	RFWD3	ORPHA:84
HP:0000818	Abnormality of the endocrine system	83990	BRIP1	ORPHA:84
HP:0000818	Abnormality of the endocrine system	57697	FANCM	ORPHA:84
HP:0000818	Abnormality of the endocrine system	79728	PALB2	ORPHA:84
HP:0000818	Abnormality of the endocrine system	84464	SLX4	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2072	ERCC4	ORPHA:84
HP:0000818	Abnormality of the endocrine system	2072	ERCC4	ORPHA:910
HP:0000818	Abnormality of the endocrine system	55215	FANCI	ORPHA:84
HP:0000818	Abnormality of the endocrine system	56652	TWNK	OMIM:609286
HP:0000818	Abnormality of the endocrine system	215	ABCD1	OMIM:300100
HP:0000818	Abnormality of the endocrine system	55630	SLC39A4	OMIM:201100
HP:0000818	Abnormality of the endocrine system	617	BCS1L	OMIM:262000
HP:0000818	Abnormality of the endocrine system	617	BCS1L	ORPHA:123
HP:0000818	Abnormality of the endocrine system	2071	ERCC3	OMIM:610651
HP:0000818	Abnormality of the endocrine system	2071	ERCC3	ORPHA:910
HP:0000818	Abnormality of the endocrine system	26227	PHGDH	ORPHA:79351
HP:0000818	Abnormality of the endocrine system	57817	HAMP	ORPHA:79230
HP:0000818	Abnormality of the endocrine system	57817	HAMP	OMIM:613313
HP:0000818	Abnormality of the endocrine system	64374	SIL1	ORPHA:559
HP:0000818	Abnormality of the endocrine system	51763	INPP5K	ORPHA:559
HP:0000818	Abnormality of the endocrine system	92482	BBIP1	ORPHA:110
HP:0000818	Abnormality of the endocrine system	80184	CEP290	ORPHA:110
HP:0000818	Abnormality of the endocrine system	4867	NPHP1	ORPHA:110
HP:0000818	Abnormality of the endocrine system	51057	WDPCP	ORPHA:110
HP:0000818	Abnormality of the endocrine system	27241	BBS9	ORPHA:110
HP:0000818	Abnormality of the endocrine system	22954	TRIM32	ORPHA:110
HP:0000818	Abnormality of the endocrine system	22954	TRIM32	OMIM:615988
HP:0000818	Abnormality of the endocrine system	54903	MKS1	ORPHA:110
HP:0000818	Abnormality of the endocrine system	79738	BBS10	ORPHA:110
HP:0000818	Abnormality of the endocrine system	79738	BBS10	OMIM:615987
HP:0000818	Abnormality of the endocrine system	585	BBS4	ORPHA:110
HP:0000818	Abnormality of the endocrine system	585	BBS4	OMIM:615982
HP:0000818	Abnormality of the endocrine system	8195	MKKS	ORPHA:110
HP:0000818	Abnormality of the endocrine system	55212	BBS7	ORPHA:110
HP:0000818	Abnormality of the endocrine system	55212	BBS7	OMIM:615984
HP:0000818	Abnormality of the endocrine system	166379	BBS12	ORPHA:110
HP:0000818	Abnormality of the endocrine system	166379	BBS12	OMIM:615989
HP:0000818	Abnormality of the endocrine system	129880	BBS5	ORPHA:110
HP:0000818	Abnormality of the endocrine system	129880	BBS5	OMIM:615983
HP:0000818	Abnormality of the endocrine system	80173	IFT74	ORPHA:110
HP:0000818	Abnormality of the endocrine system	80173	IFT74	OMIM:617119
HP:0000818	Abnormality of the endocrine system	7874	USP7	ORPHA:500055
HP:0000818	Abnormality of the endocrine system	8879	SGPL1	OMIM:617575
HP:0000818	Abnormality of the endocrine system	9791	PTDSS1	ORPHA:2658
HP:0000818	Abnormality of the endocrine system	5189	PEX1	ORPHA:3220
HP:0000818	Abnormality of the endocrine system	5190	PEX6	ORPHA:3220
HP:0000818	Abnormality of the endocrine system	5590	PRKCZ	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	2563	GABRD	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	23013	SPEN	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	8510	MMP23B	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	7798	LUZP1	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	6497	SKI	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	10630	PDPN	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	3339	HSPG2	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	10277	UBE4B	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	8514	KCNAB2	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	473	RERE	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	63976	PRDM16	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	54897	CASZ1	ORPHA:1606
HP:0000818	Abnormality of the endocrine system	493856	CISD2	ORPHA:3463
HP:0000818	Abnormality of the endocrine system	7040	TGFB1	ORPHA:1328
HP:0000818	Abnormality of the endocrine system	3043	HBB	ORPHA:231222
HP:0000818	Abnormality of the endocrine system	51124	IER3IP1	OMIM:614231
HP:0000818	Abnormality of the endocrine system	5426	POLE	ORPHA:85173
HP:0000818	Abnormality of the endocrine system	5495	PPM1B	ORPHA:163693
HP:0000818	Abnormality of the endocrine system	6519	SLC3A1	ORPHA:163693
HP:0000818	Abnormality of the endocrine system	9581	PREPL	ORPHA:163693
HP:0000818	Abnormality of the endocrine system	79823	CAMKMT	ORPHA:163693
HP:0000818	Abnormality of the endocrine system	415	ARSL	OMIM:302950
HP:0000818	Abnormality of the endocrine system	26137	ZBTB20	ORPHA:3042
HP:0000818	Abnormality of the endocrine system	2332	FMR1	ORPHA:261483
HP:0000818	Abnormality of the endocrine system	4621	MYH3	ORPHA:2990
HP:0000818	Abnormality of the endocrine system	1146	CHRNG	ORPHA:2990
HP:0000818	Abnormality of the endocrine system	84295	PHF6	ORPHA:127
HP:0000818	Abnormality of the endocrine system	60529	ALX4	ORPHA:228390
HP:0000818	Abnormality of the endocrine system	55315	SLC29A3	ORPHA:168569
HP:0000818	Abnormality of the endocrine system	84168	ANTXR1	ORPHA:2067
HP:0000818	Abnormality of the endocrine system	56052	ALG1	OMIM:608540
HP:0000818	Abnormality of the endocrine system	5604	MAP2K1	OMIM:163950
HP:0000818	Abnormality of the endocrine system	4089	SMAD4	ORPHA:2588
HP:0000818	Abnormality of the endocrine system	7507	XPA	ORPHA:910
HP:0000818	Abnormality of the endocrine system	7508	XPC	ORPHA:910
HP:0000818	Abnormality of the endocrine system	1643	DDB2	ORPHA:910
HP:0000818	Abnormality of the endocrine system	64682	ANAPC1	ORPHA:221008
HP:0000818	Abnormality of the endocrine system	57724	EPG5	OMIM:242840
HP:0000818	Abnormality of the endocrine system	80144	FRAS1	OMIM:219000
HP:0000818	Abnormality of the endocrine system	55388	MCM10	OMIM:619313
HP:0000818	Abnormality of the endocrine system	84876	ORAI1	OMIM:612782
HP:0000818	Abnormality of the endocrine system	6097	RORC	OMIM:616622
HP:0000818	Abnormality of the endocrine system	92579	G6PC3	OMIM:612541
HP:0000818	Abnormality of the endocrine system	7454	WAS	ORPHA:906
HP:0000818	Abnormality of the endocrine system	7456	WIPF1	ORPHA:906
HP:0000818	Abnormality of the endocrine system	91754	NEK9	OMIM:617022
HP:0000818	Abnormality of the endocrine system	56160	NSMCE3	OMIM:617241
HP:0000818	Abnormality of the endocrine system	341640	FREM2	OMIM:617666
HP:0000818	Abnormality of the endocrine system	4361	MRE11	ORPHA:251347
HP:0000818	Abnormality of the endocrine system	2592	GALT	OMIM:230400
HP:0000818	Abnormality of the endocrine system	4047	LSS	ORPHA:2850
HP:0000818	Abnormality of the endocrine system	197	AHSG	ORPHA:2850
HP:0000818	Abnormality of the endocrine system	3694	ITGB6	ORPHA:2850
HP:0000818	Abnormality of the endocrine system	92667	MGME1	ORPHA:352447
HP:0000818	Abnormality of the endocrine system	92667	MGME1	OMIM:615084
HP:0000818	Abnormality of the endocrine system	54453	RIN2	ORPHA:217335
HP:0000818	Abnormality of the endocrine system	54453	RIN2	OMIM:613075
HP:0000818	Abnormality of the endocrine system	8878	SQSTM1	OMIM:617145
HP:0000818	Abnormality of the endocrine system	27235	COQ2	OMIM:607426
HP:0000818	Abnormality of the endocrine system	9692	PRORP	OMIM:619737
HP:0000818	Abnormality of the endocrine system	79184	BRCC3	ORPHA:280679
HP:0000818	Abnormality of the endocrine system	6342	SCP2	OMIM:613724
HP:0000818	Abnormality of the endocrine system	998	CDC42	ORPHA:487796
HP:0000818	Abnormality of the endocrine system	10195	ALG3	ORPHA:79321
HP:0000818	Abnormality of the endocrine system	10283	CWC27	ORPHA:166035
HP:0000818	Abnormality of the endocrine system	4247	MGAT2	ORPHA:79329
HP:0000818	Abnormality of the endocrine system	6716	SRD5A2	OMIM:264600
HP:0000818	Abnormality of the endocrine system	6716	SRD5A2	ORPHA:753
HP:0000818	Abnormality of the endocrine system	2690	GHR	ORPHA:633
HP:0000818	Abnormality of the endocrine system	25915	NDUFAF3	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	51103	NDUFAF1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	91942	NDUFAF2	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	51300	TIMMDC1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4716	NDUFB10	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4723	NDUFV1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	55572	FOXRED1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	284184	NDUFAF8	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	55863	TMEM126B	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4537	MT-ND3	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4729	NDUFV2	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4694	NDUFA1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4720	NDUFS2	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4724	NDUFS4	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4726	NDUFS6	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4728	NDUFS8	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4722	NDUFS3	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	126328	NDUFA11	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4709	NDUFB3	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	80224	NUBPL	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	29078	NDUFAF4	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	374291	NDUFS7	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4700	NDUFA6	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4536	MT-ND2	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4719	NDUFS1	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	4715	NDUFB9	ORPHA:2609
HP:0000818	Abnormality of the endocrine system	81555	YIPF5	OMIM:619278
HP:0000818	Abnormality of the endocrine system	1356	CP	OMIM:604290
HP:0000818	Abnormality of the endocrine system	1356	CP	ORPHA:48818
HP:0000818	Abnormality of the endocrine system	55627	SMPD4	OMIM:618622
HP:0000818	Abnormality of the endocrine system	4508	MT-ATP6	ORPHA:320360
HP:0000818	Abnormality of the endocrine system	57104	PNPLA2	ORPHA:565612
HP:0000818	Abnormality of the endocrine system	57104	PNPLA2	OMIM:610717
HP:0000818	Abnormality of the endocrine system	57104	PNPLA2	ORPHA:98908
HP:0000818	Abnormality of the endocrine system	63916	ELMO2	ORPHA:3019
HP:0000818	Abnormality of the endocrine system	10560	SLC19A2	ORPHA:49827
HP:0000818	Abnormality of the endocrine system	10560	SLC19A2	OMIM:249270
HP:0000818	Abnormality of the endocrine system	30061	SLC40A1	OMIM:606069
HP:0000818	Abnormality of the endocrine system	348	APOE	ORPHA:412
HP:0000818	Abnormality of the endocrine system	134218	DNAJC21	ORPHA:811
HP:0000818	Abnormality of the endocrine system	79631	EFL1	ORPHA:811
HP:0000818	Abnormality of the endocrine system	51119	SBDS	ORPHA:811
HP:0000818	Abnormality of the endocrine system	6729	SRP54	ORPHA:811
HP:0000818	Abnormality of the endocrine system	4519	MT-CYB	OMIM:540000
HP:0000818	Abnormality of the endocrine system	4511	MT-TC	OMIM:540000
HP:0000818	Abnormality of the endocrine system	4577	MT-TV	OMIM:540000
HP:0000818	Abnormality of the endocrine system	3376	IARS1	ORPHA:541423
HP:0000818	Abnormality of the endocrine system	7274	TTPA	ORPHA:96
HP:0000818	Abnormality of the endocrine system	8091	HMGA2	ORPHA:94063
HP:0000818	Abnormality of the endocrine system	23592	LEMD3	ORPHA:94063
HP:0000818	Abnormality of the endocrine system	51651	PTRH2	ORPHA:456312
HP:0000818	Abnormality of the endocrine system	51651	PTRH2	OMIM:616263
HP:0000818	Abnormality of the endocrine system	2992	GYG1	ORPHA:263297
HP:0000818	Abnormality of the endocrine system	285282	RABL3	ORPHA:1333
HP:0000818	Abnormality of the endocrine system	23022	PALLD	ORPHA:1333
HP:0000818	Abnormality of the endocrine system	2707	GJB3	ORPHA:317
HP:0000818	Abnormality of the endocrine system	2531	KDSR	ORPHA:317
HP:0000818	Abnormality of the endocrine system	127534	GJB4	ORPHA:317
HP:0000818	Abnormality of the endocrine system	2395	FXN	ORPHA:95
HP:0000818	Abnormality of the endocrine system	2395	FXN	OMIM:229300
HP:0000818	Abnormality of the endocrine system	165	AEBP1	ORPHA:536532
HP:0000818	Abnormality of the endocrine system	5644	PRSS1	ORPHA:676
HP:0000818	Abnormality of the endocrine system	5644	PRSS1	OMIM:167800
HP:0000818	Abnormality of the endocrine system	5645	PRSS2	ORPHA:676
HP:0000818	Abnormality of the endocrine system	5645	PRSS2	OMIM:167800
HP:0000818	Abnormality of the endocrine system	1357	CPA1	ORPHA:676
HP:0000818	Abnormality of the endocrine system	3975	LHX1	ORPHA:261265
HP:0000818	Abnormality of the endocrine system	222546	RFX6	OMIM:615710
HP:0000818	Abnormality of the endocrine system	79759	ZNF668	OMIM:620194
HP:0000818	Abnormality of the endocrine system	5244	ABCB4	ORPHA:69663
HP:0000818	Abnormality of the endocrine system	27086	FOXP1	ORPHA:391372
HP:0000818	Abnormality of the endocrine system	93587	TRMT10A	ORPHA:391408
HP:0000818	Abnormality of the endocrine system	93587	TRMT10A	OMIM:616033
HP:0000818	Abnormality of the endocrine system	84919	PPP1R15B	ORPHA:391408
HP:0000818	Abnormality of the endocrine system	4205	MEF2A	OMIM:608320
HP:0000818	Abnormality of the endocrine system	4854	NOTCH3	ORPHA:136
HP:0000818	Abnormality of the endocrine system	5879	RAC1	ORPHA:500159
HP:0000818	Abnormality of the endocrine system	2303	FOXC2	ORPHA:33001
HP:0000818	Abnormality of the endocrine system	4693	NDP	ORPHA:649
HP:0000818	Abnormality of the endocrine system	3514	IGKC	ORPHA:183675
HP:0000818	Abnormality of the endocrine system	3501	IGHG2	ORPHA:183675
HP:0000818	Abnormality of the endocrine system	3710	ITPR3	OMIM:222100
HP:0000818	Abnormality of the endocrine system	23503	ZFYVE26	ORPHA:100996
HP:0000818	Abnormality of the endocrine system	84823	LMNB2	OMIM:608709
HP:0000818	Abnormality of the endocrine system	80169	CTC1	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	26277	TINF2	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	55651	NHP2	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	79650	USB1	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	55135	WRAP53	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	51750	RTEL1	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	4869	NPM1	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	7012	TERC	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	55505	NOP10	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	5073	PARN	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	1736	DKC1	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	7298	TYMS	ORPHA:1775
HP:0000818	Abnormality of the endocrine system	116519	APOA5	OMIM:144650
HP:0000818	Abnormality of the endocrine system	54938	SARS2	OMIM:613845
HP:0000818	Abnormality of the endocrine system	25886	POC1A	OMIM:614813
HP:0000818	Abnormality of the endocrine system	3480	IGF1R	OMIM:270450
HP:0000818	Abnormality of the endocrine system	10535	RNASEH2A	ORPHA:51
HP:0000818	Abnormality of the endocrine system	84153	RNASEH2C	ORPHA:51
HP:0000818	Abnormality of the endocrine system	25939	SAMHD1	ORPHA:51
HP:0000818	Abnormality of the endocrine system	79621	RNASEH2B	ORPHA:51
HP:0000818	Abnormality of the endocrine system	103	ADAR	ORPHA:51
HP:0000818	Abnormality of the endocrine system	100147744	RNU7-1	ORPHA:51
HP:0000818	Abnormality of the endocrine system	134353	LSM11	ORPHA:51
HP:0000818	Abnormality of the endocrine system	64135	IFIH1	ORPHA:51
HP:0000818	Abnormality of the endocrine system	330	BIRC3	ORPHA:52417
HP:0000818	Abnormality of the endocrine system	10892	MALT1	ORPHA:52417
HP:0000818	Abnormality of the endocrine system	3492	IGH	ORPHA:52417
HP:0000818	Abnormality of the endocrine system	8915	BCL10	ORPHA:52417
HP:0000818	Abnormality of the endocrine system	3594	IL12RB1	ORPHA:186
HP:0000818	Abnormality of the endocrine system	23534	TNPO3	ORPHA:186
HP:0000818	Abnormality of the endocrine system	3592	IL12A	ORPHA:186
HP:0000818	Abnormality of the endocrine system	6689	SPIB	ORPHA:186
HP:0000818	Abnormality of the endocrine system	5450	POU2AF1	ORPHA:186
HP:0000818	Abnormality of the endocrine system	9966	TNFSF15	ORPHA:186
HP:0000818	Abnormality of the endocrine system	79258	MMEL1	ORPHA:186
HP:0000818	Abnormality of the endocrine system	3663	IRF5	ORPHA:186
HP:0000818	Abnormality of the endocrine system	10736	SIX2	ORPHA:488437
HP:0000818	Abnormality of the endocrine system	2904	GRIN2B	OMIM:613970
HP:0000818	Abnormality of the endocrine system	64324	NSD1	ORPHA:821
HP:0000818	Abnormality of the endocrine system	29072	SETD2	ORPHA:821
HP:0000818	Abnormality of the endocrine system	10297	APC2	ORPHA:821
HP:0000818	Abnormality of the endocrine system	3190	HNRNPK	ORPHA:453504
HP:0000818	Abnormality of the endocrine system	3190	HNRNPK	ORPHA:352665
HP:0000818	Abnormality of the endocrine system	7018	TF	ORPHA:1195
HP:0000818	Abnormality of the endocrine system	4141	MARS1	OMIM:615486
HP:0000818	Abnormality of the endocrine system	3716	JAK1	OMIM:618999
HP:0000818	Abnormality of the endocrine system	4038	LRP4	ORPHA:3258
HP:0000818	Abnormality of the endocrine system	4868	NPHS1	OMIM:256300
HP:0000818	Abnormality of the endocrine system	54	ACP5	OMIM:607944
HP:0000818	Abnormality of the endocrine system	54	ACP5	ORPHA:1855
HP:0000818	Abnormality of the endocrine system	23250	ATP11A	OMIM:619851
HP:0000818	Abnormality of the endocrine system	55870	ASH1L	OMIM:617796
HP:0000818	Abnormality of the endocrine system	10020	GNE	ORPHA:602
HP:0000818	Abnormality of the endocrine system	9184	BUB3	ORPHA:1052
HP:0000818	Abnormality of the endocrine system	699	BUB1	ORPHA:1052
HP:0000818	Abnormality of the endocrine system	9702	CEP57	ORPHA:1052
HP:0000818	Abnormality of the endocrine system	9702	CEP57	OMIM:614114
HP:0000818	Abnormality of the endocrine system	9319	TRIP13	ORPHA:1052
HP:0000818	Abnormality of the endocrine system	701	BUB1B	ORPHA:1052
HP:0000818	Abnormality of the endocrine system	55148	UBR7	OMIM:619189
HP:0000818	Abnormality of the endocrine system	388662	SLC6A17	ORPHA:457212
HP:0000818	Abnormality of the endocrine system	3572	IL6ST	OMIM:619750
HP:0000818	Abnormality of the endocrine system	1593	CYP27A1	ORPHA:909
HP:0000818	Abnormality of the endocrine system	54440	SASH3	OMIM:301082
HP:0000818	Abnormality of the endocrine system	2517	FUCA1	ORPHA:349
HP:0000818	Abnormality of the endocrine system	55719	SLF2	OMIM:620184
HP:0000818	Abnormality of the endocrine system	5205	ATP8B1	ORPHA:69665
HP:0000818	Abnormality of the endocrine system	8647	ABCB11	ORPHA:69665
HP:0000818	Abnormality of the endocrine system	9971	NR1H4	ORPHA:69665
HP:0000818	Abnormality of the endocrine system	5324	PLAG1	ORPHA:397590
HP:0000818	Abnormality of the endocrine system	111	ADCY5	OMIM:619647
HP:0000818	Abnormality of the endocrine system	7841	MOGS	ORPHA:79330
HP:0000818	Abnormality of the endocrine system	3662	IRF4	ORPHA:3452
HP:0000818	Abnormality of the endocrine system	2683	B4GALT1	ORPHA:79332
HP:0000818	Abnormality of the endocrine system	775	CACNA1C	OMIM:601005
HP:0000818	Abnormality of the endocrine system	85365	ALG2	OMIM:607906
HP:0000818	Abnormality of the endocrine system	5286	PIK3C2A	OMIM:618440
HP:0000818	Abnormality of the endocrine system	10661	KLF1	OMIM:613673
HP:0000818	Abnormality of the endocrine system	374969	SVBP	OMIM:618569
HP:0000818	Abnormality of the endocrine system	3242	HPD	ORPHA:2118
HP:0000818	Abnormality of the endocrine system	1642	DDB1	OMIM:619426
HP:0000818	Abnormality of the endocrine system	9780	PIEZO1	OMIM:616843
HP:0000818	Abnormality of the endocrine system	10785	WDR4	OMIM:618347
HP:0000818	Abnormality of the endocrine system	81570	CLPB	ORPHA:445038
HP:0000818	Abnormality of the endocrine system	2258	FGF13	OMIM:301058
HP:0000818	Abnormality of the endocrine system	27125	AFF4	ORPHA:444077
HP:0000818	Abnormality of the endocrine system	4568	MT-TL2	ORPHA:663
HP:0000818	Abnormality of the endocrine system	4570	MT-TN	ORPHA:663
HP:0000818	Abnormality of the endocrine system	6299	SALL1	OMIM:107480
HP:0000818	Abnormality of the endocrine system	6299	SALL1	ORPHA:857
HP:0000818	Abnormality of the endocrine system	2623	GATA1	OMIM:190685
HP:0000818	Abnormality of the endocrine system	29998	BICRA	OMIM:619325
HP:0000818	Abnormality of the endocrine system	113179	ADAT3	ORPHA:363528
HP:0000818	Abnormality of the endocrine system	2530	FUT8	OMIM:618005
HP:0000818	Abnormality of the endocrine system	201163	FLCN	OMIM:610883
HP:0000818	Abnormality of the endocrine system	708	C1QBP	OMIM:617713
HP:0000818	Abnormality of the endocrine system	4547	MTTP	ORPHA:14
HP:0000818	Abnormality of the endocrine system	112812	FDX2	OMIM:251900
HP:0000818	Abnormality of the endocrine system	7074	TIAM1	OMIM:619908
HP:0000818	Abnormality of the endocrine system	84265	POLR3GL	OMIM:619234
HP:0000818	Abnormality of the endocrine system	57003	CCDC47	OMIM:618268
HP:0000818	Abnormality of the endocrine system	10526	IPO8	OMIM:619472
HP:0000818	Abnormality of the endocrine system	2643	GCH1	ORPHA:98808
HP:0000818	Abnormality of the endocrine system	4929	NR4A2	ORPHA:98808
HP:0000818	Abnormality of the endocrine system	3615	IMPDH2	ORPHA:98808
HP:0000818	Abnormality of the endocrine system	8405	SPOP	OMIM:618829
HP:0000818	Abnormality of the endocrine system	51317	PHF21A	ORPHA:52022
HP:0000818	Abnormality of the endocrine system	2890	GRIA1	OMIM:619927
HP:0000818	Abnormality of the endocrine system	51339	DACT1	ORPHA:857
HP:0000818	Abnormality of the endocrine system	151188	ARL6IP6	ORPHA:1556
HP:0000818	Abnormality of the endocrine system	9759	HDAC4	OMIM:600430
HP:0000818	Abnormality of the endocrine system	2193	FARSA	OMIM:619013
HP:0000818	Abnormality of the endocrine system	4194	MDM4	OMIM:618849
HP:0000818	Abnormality of the endocrine system	131118	DNAJC19	ORPHA:66634
HP:0000818	Abnormality of the endocrine system	5557	PRIM1	OMIM:620005
HP:0000818	Abnormality of the endocrine system	79644	SRD5A3	ORPHA:324737
HP:0000818	Abnormality of the endocrine system	1604	CD55	OMIM:226300
HP:0000818	Abnormality of the endocrine system	3735	KARS1	OMIM:619147
HP:0000818	Abnormality of the endocrine system	23404	EXOSC2	OMIM:617763
HP:0000818	Abnormality of the endocrine system	9652	SKIC3	ORPHA:84064
HP:0000818	Abnormality of the endocrine system	6499	SKIC2	ORPHA:84064
HP:0000818	Abnormality of the endocrine system	9663	LPIN2	OMIM:609628
HP:0000818	Abnormality of the endocrine system	6885	MAP3K7	OMIM:617137
HP:0000818	Abnormality of the endocrine system	4312	MMP1	ORPHA:79408
HP:0000818	Abnormality of the endocrine system	1294	COL7A1	ORPHA:79408
HP:0000818	Abnormality of the endocrine system	1294	COL7A1	ORPHA:89842
HP:0000818	Abnormality of the endocrine system	114548	NLRP3	ORPHA:575
HP:0000818	Abnormality of the endocrine system	6609	SMPD1	ORPHA:77293
HP:0000818	Abnormality of the endocrine system	6884	TAF13	OMIM:617432
HP:0000818	Abnormality of the endocrine system	3483	IGFALS	ORPHA:140941
HP:0000818	Abnormality of the endocrine system	3483	IGFALS	OMIM:615961
HP:0000818	Abnormality of the endocrine system	2538	G6PC1	OMIM:232200
HP:0000818	Abnormality of the endocrine system	80324	PUS1	OMIM:600462
HP:0000818	Abnormality of the endocrine system	80324	PUS1	ORPHA:2598
HP:0000818	Abnormality of the endocrine system	4853	NOTCH2	ORPHA:955
HP:0000818	Abnormality of the endocrine system	374393	FAM111B	OMIM:615704
HP:0000818	Abnormality of the endocrine system	23476	BRD4	ORPHA:199
HP:0000818	Abnormality of the endocrine system	9126	SMC3	ORPHA:199
HP:0000818	Abnormality of the endocrine system	25836	NIPBL	ORPHA:199
HP:0000818	Abnormality of the endocrine system	5885	RAD21	ORPHA:199
HP:0000818	Abnormality of the endocrine system	953	ENTPD1	ORPHA:401810
HP:0000818	Abnormality of the endocrine system	953	ENTPD1	OMIM:615683
HP:0000818	Abnormality of the endocrine system	6711	SPTBN1	OMIM:619475
HP:0000818	Abnormality of the endocrine system	80152	CENPT	OMIM:618702
HP:0000818	Abnormality of the endocrine system	6134	RPL10	ORPHA:459070
HP:0000818	Abnormality of the endocrine system	55210	ATAD3A	ORPHA:496790
HP:0000818	Abnormality of the endocrine system	79983	POF1B	OMIM:300604
HP:0000818	Abnormality of the endocrine system	226	ALDOA	OMIM:611881
HP:0000818	Abnormality of the endocrine system	2629	GBA1	ORPHA:2072
HP:0000818	Abnormality of the endocrine system	2629	GBA1	ORPHA:77261
HP:0000818	Abnormality of the endocrine system	2629	GBA1	ORPHA:77259
HP:0000818	Abnormality of the endocrine system	5236	PGM1	OMIM:614921
HP:0000818	Abnormality of the endocrine system	5836	PYGL	ORPHA:369
HP:0000818	Abnormality of the endocrine system	51067	YARS2	ORPHA:2598
HP:0000818	Abnormality of the endocrine system	22931	RAB18	ORPHA:2510
HP:0000818	Abnormality of the endocrine system	128637	TBC1D20	ORPHA:2510
HP:0000818	Abnormality of the endocrine system	5256	PHKA2	ORPHA:264580
HP:0000818	Abnormality of the endocrine system	5261	PHKG2	ORPHA:264580
HP:0000818	Abnormality of the endocrine system	6307	MSMO1	OMIM:616834
HP:0000818	Abnormality of the endocrine system	9325	TRIP4	ORPHA:486815
HP:0000818	Abnormality of the endocrine system	950	SCARB2	ORPHA:77259
HP:0000818	Abnormality of the endocrine system	23394	ADNP	OMIM:615873
HP:0000818	Abnormality of the endocrine system	7707	ZNF148	OMIM:617260
HP:0000818	Abnormality of the endocrine system	157680	VPS13B	OMIM:216550
HP:0000818	Abnormality of the endocrine system	5718	PSMD12	ORPHA:529962
HP:0000818	Abnormality of the endocrine system	2186	BPTF	ORPHA:529962
HP:0000818	Abnormality of the endocrine system	4297	KMT2A	ORPHA:319182
HP:0000818	Abnormality of the endocrine system	57187	THOC2	ORPHA:457240
HP:0000818	Abnormality of the endocrine system	9056	SLC7A7	ORPHA:470
HP:0000818	Abnormality of the endocrine system	54499	TMCO1	OMIM:213980
HP:0000818	Abnormality of the endocrine system	5605	MAP2K2	OMIM:615280
HP:0000818	Abnormality of the endocrine system	2317	FLNB	ORPHA:1263
HP:0000818	Abnormality of the endocrine system	695	BTK	OMIM:307200
HP:0000818	Abnormality of the endocrine system	9526	MPDU1	ORPHA:79323
HP:0000818	Abnormality of the endocrine system	1513	CTSK	ORPHA:763
HP:0000818	Abnormality of the endocrine system	51053	GMNN	OMIM:616835
HP:0000818	Abnormality of the endocrine system	6664	SOX11	OMIM:615866
HP:0000818	Abnormality of the endocrine system	157570	ESCO2	OMIM:216100
HP:0000818	Abnormality of the endocrine system	4351	MPI	ORPHA:79319
HP:0000818	Abnormality of the endocrine system	4351	MPI	OMIM:602579
HP:0000818	Abnormality of the endocrine system	3033	HADH	ORPHA:71212
HP:0000818	Abnormality of the endocrine system	3033	HADH	OMIM:609975
HP:0000818	Abnormality of the endocrine system	9563	H6PD	OMIM:604931
HP:0000818	Abnormality of the endocrine system	388015	RTL1	ORPHA:254531
HP:0000818	Abnormality of the endocrine system	388015	RTL1	ORPHA:96184
HP:0000818	Abnormality of the endocrine system	388015	RTL1	ORPHA:254525
HP:0000818	Abnormality of the endocrine system	8788	DLK1	ORPHA:254531
HP:0000818	Abnormality of the endocrine system	8788	DLK1	ORPHA:96184
HP:0000818	Abnormality of the endocrine system	8788	DLK1	ORPHA:254525
HP:0000818	Abnormality of the endocrine system	55384	MEG3	ORPHA:254531
HP:0000818	Abnormality of the endocrine system	55384	MEG3	ORPHA:96184
HP:0000818	Abnormality of the endocrine system	55384	MEG3	ORPHA:254525
HP:0000818	Abnormality of the endocrine system	9757	KMT2B	ORPHA:589618
HP:0000818	Abnormality of the endocrine system	5281	PIGF	OMIM:619356
HP:0000818	Abnormality of the endocrine system	8367	H4C5	OMIM:619950
HP:0000818	Abnormality of the endocrine system	2132	EXT2	OMIM:616682
HP:0000818	Abnormality of the endocrine system	116115	ZNF526	OMIM:619877
HP:0000818	Abnormality of the endocrine system	10586	MAB21L2	OMIM:615877
HP:0000818	Abnormality of the endocrine system	26047	CNTNAP2	ORPHA:163681
HP:0000818	Abnormality of the endocrine system	10236	HNRNPR	OMIM:620073
HP:0000818	Abnormality of the endocrine system	2887	GRB10	ORPHA:96182
HP:0000818	Abnormality of the endocrine system	4784	NFIX	ORPHA:447980
HP:0000818	Abnormality of the endocrine system	79813	EHMT1	ORPHA:261652
HP:0000818	Abnormality of the endocrine system	58508	KMT2C	ORPHA:261652
HP:0000818	Abnormality of the endocrine system	51715	RAB23	OMIM:201000
HP:0000818	Abnormality of the endocrine system	80816	ASXL3	OMIM:615485
HP:0000818	Abnormality of the endocrine system	23112	TNRC6B	OMIM:619243
HP:0000818	Abnormality of the endocrine system	23096	IQSEC2	ORPHA:217377
HP:0000818	Abnormality of the endocrine system	23096	IQSEC2	ORPHA:819
HP:0000818	Abnormality of the endocrine system	1654	DDX3X	OMIM:300958
HP:0000818	Abnormality of the endocrine system	1654	DDX3X	ORPHA:457260
HP:0000818	Abnormality of the endocrine system	2314	FLII	ORPHA:819
HP:0000818	Abnormality of the endocrine system	10743	RAI1	ORPHA:819
HP:0000818	Abnormality of the endocrine system	10522	DEAF1	ORPHA:819
HP:0000818	Abnormality of the endocrine system	10847	SRCAP	ORPHA:2044
HP:0000818	Abnormality of the endocrine system	7030	TFE3	OMIM:301066
HP:0000818	Abnormality of the endocrine system	1717	DHCR7	OMIM:270400
HP:0000818	Abnormality of the endocrine system	10943	MSL3	OMIM:301032
HP:0000818	Abnormality of the endocrine system	55553	SOX6	OMIM:618971
HP:0000818	Abnormality of the endocrine system	53834	FGFRL1	OMIM:194190
HP:0000818	Abnormality of the endocrine system	1487	CTBP1	OMIM:194190
HP:0000818	Abnormality of the endocrine system	3954	LETM1	OMIM:194190
HP:0000818	Abnormality of the endocrine system	7468	NSD2	OMIM:194190
HP:0000818	Abnormality of the endocrine system	10815	CPLX1	OMIM:194190
HP:0000818	Abnormality of the endocrine system	6792	CDKL5	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	3736	KCNA1	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	9091	PIGQ	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	2775	GNAO1	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	81603	TRIM8	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	2902	GRIN1	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	79751	SLC25A22	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	150094	SIK1	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	8573	CASK	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	170302	ARX	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	11284	PNKP	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	6326	SCN2A	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	51227	PIGP	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	6324	SCN1B	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	4761	NEUROD2	ORPHA:1934
HP:0000818	Abnormality of the endocrine system	158326	FREM1	OMIM:608980
HP:0000818	Abnormality of the endocrine system	2313	FLI1	ORPHA:370348
HP:0000818	Abnormality of the endocrine system	54888	NSUN2	ORPHA:235
HP:0000818	Abnormality of the endocrine system	5745	PTH1R	OMIM:156400
HP:0000818	Abnormality of the endocrine system	10265	IRX5	OMIM:611174
HP:0000818	Abnormality of the endocrine system	51604	PIGT	ORPHA:369837
HP:0000818	Abnormality of the endocrine system	63901	FAM111A	OMIM:127000
HP:0000818	Abnormality of the endocrine system	3032	HADHB	ORPHA:746
HP:0000818	Abnormality of the endocrine system	3030	HADHA	ORPHA:746
HP:0000818	Abnormality of the endocrine system	9993	DGCR2	OMIM:192430
HP:0000818	Abnormality of the endocrine system	8220	ESS2	OMIM:192430
HP:0000818	Abnormality of the endocrine system	8214	DGCR6	OMIM:192430
HP:0000818	Abnormality of the endocrine system	54487	DGCR8	OMIM:192430
HP:0000818	Abnormality of the endocrine system	1287	COL4A5	OMIM:301050
HP:0000818	Abnormality of the endocrine system	540	ATP7B	OMIM:277900
HP:0000818	Abnormality of the endocrine system	29926	GMPPA	ORPHA:869
HP:0000818	Abnormality of the endocrine system	60684	TRAPPC11	ORPHA:869
HP:0000818	Abnormality of the endocrine system	4509	MT-ATP8	ORPHA:480
HP:0000818	Abnormality of the endocrine system	5295	PIK3R1	OMIM:269880
HP:0000818	Abnormality of the endocrine system	10367	MICU1	ORPHA:401768
HP:0000818	Abnormality of the endocrine system	1650	DDOST	ORPHA:300536
HP:0000818	Abnormality of the endocrine system	197131	UBR1	OMIM:243800
HP:0000818	Abnormality of the endocrine system	118429	ANTXR2	ORPHA:2176
HP:0000818	Abnormality of the endocrine system	128	ADH5	OMIM:619151
HP:0000818	Abnormality of the endocrine system	9897	WASHC5	OMIM:220210
HP:0000818	Abnormality of the endocrine system	9897	WASHC5	ORPHA:7
HP:0000818	Abnormality of the endocrine system	54809	SAMD9	OMIM:617053
HP:0000818	Abnormality of the endocrine system	7148	TNXB	ORPHA:230839
HP:0000818	Abnormality of the endocrine system	8425	LTBP4	OMIM:613177
HP:0000818	Abnormality of the endocrine system	28952	CCDC22	ORPHA:7
HP:0000818	Abnormality of the endocrine system	22858	CILK1	OMIM:612651
HP:0000818	Abnormality of the endocrine system	1312	COMT	ORPHA:567
HP:0000818	Abnormality of the endocrine system	221037	JMJD1C	ORPHA:567
HP:0000818	Abnormality of the endocrine system	2812	GP1BB	ORPHA:567
HP:0000818	Abnormality of the endocrine system	6239	RREB1	ORPHA:567
HP:0000818	Abnormality of the endocrine system	7290	HIRA	ORPHA:567
HP:0000818	Abnormality of the endocrine system	9632	SEC24C	ORPHA:567
HP:0000818	Abnormality of the endocrine system	7353	UFD1	ORPHA:567
HP:0000818	Abnormality of the endocrine system	421	ARVCF	ORPHA:567
HP:0000818	Abnormality of the endocrine system	340719	NANOS1	ORPHA:399808
HP:0000818	Abnormality of the endocrine system	340719	NANOS1	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	3973	LHCGR	OMIM:238320
HP:0000818	Abnormality of the endocrine system	171568	POLR3H	ORPHA:243
HP:0000818	Abnormality of the endocrine system	9210	BMP15	ORPHA:243
HP:0000818	Abnormality of the endocrine system	57122	NUP107	ORPHA:243
HP:0000818	Abnormality of the endocrine system	23395	LARS2	OMIM:615300
HP:0000818	Abnormality of the endocrine system	3295	HSD17B4	OMIM:233400
HP:0000818	Abnormality of the endocrine system	56154	TEX15	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	56155	TEX14	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	254528	MEIOB	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	91057	CCDC34	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	317719	KLHL10	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	56159	TEX11	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	1080	CFTR	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	122402	TDRD9	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	154197	PNLDC1	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	50511	SYCP3	ORPHA:399805
HP:0000818	Abnormality of the endocrine system	25970	SH2B1	ORPHA:329249
HP:0000818	Abnormality of the endocrine system	284119	CAVIN1	ORPHA:528
HP:0000818	Abnormality of the endocrine system	284119	CAVIN1	OMIM:613327
HP:0000818	Abnormality of the endocrine system	2353	FOS	ORPHA:528
HP:0000818	Abnormality of the endocrine system	109	ADCY3	OMIM:617885
HP:0000818	Abnormality of the endocrine system	2584	GALK1	ORPHA:79237
HP:0000818	Abnormality of the endocrine system	9071	CLDN10	OMIM:617671
HP:0000818	Abnormality of the endocrine system	72	ACTG2	ORPHA:2604
HP:0000818	Abnormality of the endocrine system	2591	GALNT3	OMIM:211900
HP:0000818	Abnormality of the endocrine system	9842	PLEKHM1	OMIM:618107
HP:0000818	Abnormality of the endocrine system	6522	SLC4A2	OMIM:620366
HP:0000818	Abnormality of the endocrine system	3248	HPGD	ORPHA:2796
HP:0000818	Abnormality of the endocrine system	6578	SLCO2A1	ORPHA:2796
HP:0000818	Abnormality of the endocrine system	54880	BCOR	OMIM:300166
HP:0000818	Abnormality of the endocrine system	64432	MRPS25	OMIM:619025
HP:0000818	Abnormality of the endocrine system	9054	NFS1	OMIM:619386
HP:0000818	Abnormality of the endocrine system	6288	SAA1	ORPHA:85445
HP:0000818	Abnormality of the endocrine system	5830	PEX5	OMIM:202370
HP:0000818	Abnormality of the endocrine system	79133	NDUFAF5	OMIM:618238
HP:0000818	Abnormality of the endocrine system	2710	GK	OMIM:307030
HP:0000818	Abnormality of the endocrine system	10916	MAGED2	OMIM:300971
HP:0000818	Abnormality of the endocrine system	137814	NKX2-6	ORPHA:3384
HP:0000818	Abnormality of the endocrine system	145173	B3GLCT	ORPHA:709
HP:0000818	Abnormality of the endocrine system	4796	TONSL	OMIM:271510
HP:0000818	Abnormality of the endocrine system	526	ATP6V1B2	ORPHA:79500
HP:0000818	Abnormality of the endocrine system	57465	TBC1D24	ORPHA:79500
HP:0000818	Abnormality of the endocrine system	83696	TRAPPC9	ORPHA:352530
HP:0000818	Abnormality of the endocrine system	2782	GNB1	OMIM:616973
HP:0000818	Abnormality of the endocrine system	9373	PLAA	OMIM:617527
HP:0000818	Abnormality of the endocrine system	79693	YRDC	OMIM:619609
HP:0000818	Abnormality of the endocrine system	54496	PRMT7	OMIM:617157
HP:0000818	Abnormality of the endocrine system	54496	PRMT7	ORPHA:464288
HP:0000818	Abnormality of the endocrine system	291	SLC25A4	ORPHA:254892
HP:0000818	Abnormality of the endocrine system	11232	POLG2	ORPHA:254892
HP:0000818	Abnormality of the endocrine system	55213	RCBTB1	OMIM:617175
HP:0000818	Abnormality of the endocrine system	25981	DNAH1	OMIM:617577
HP:0000818	Abnormality of the endocrine system	2299	FOXI1	ORPHA:705
HP:0000818	Abnormality of the endocrine system	2299	FOXI1	OMIM:600791
HP:0000818	Abnormality of the endocrine system	2299	FOXI1	OMIM:274600
HP:0000818	Abnormality of the endocrine system	79783	SUGCT	OMIM:231690
HP:0000818	Abnormality of the endocrine system	4437	MSH3	ORPHA:480536
HP:0000818	Abnormality of the endocrine system	4437	MSH3	OMIM:617100
HP:0000818	Abnormality of the endocrine system	2627	GATA6	ORPHA:2255
HP:0000818	Abnormality of the endocrine system	256297	PTF1A	ORPHA:65288
HP:0000818	Abnormality of the endocrine system	7809	BSND	ORPHA:89938
HP:0000818	Abnormality of the endocrine system	7809	BSND	OMIM:602522
HP:0000818	Abnormality of the endocrine system	1187	CLCNKA	ORPHA:89938
HP:0000818	Abnormality of the endocrine system	1187	CLCNKA	OMIM:613090
HP:0000818	Abnormality of the endocrine system	3766	KCNJ10	OMIM:612780
HP:0000818	Abnormality of the endocrine system	3766	KCNJ10	ORPHA:199343
HP:0000818	Abnormality of the endocrine system	1181	CLCN2	OMIM:605635
HP:0000818	Abnormality of the endocrine system	6557	SLC12A1	OMIM:601678
HP:0000818	Abnormality of the endocrine system	3758	KCNJ1	OMIM:241200
HP:0000818	Abnormality of the endocrine system	8912	CACNA1H	OMIM:617027
HP:0000818	Abnormality of the endocrine system	1811	SLC26A3	OMIM:214700
HP:0000818	Abnormality of the endocrine system	3773	KCNJ16	OMIM:619406
HP:0000818	Abnormality of the endocrine system	3759	KCNJ2	ORPHA:37553
HP:0000818	Abnormality of the endocrine system	2625	GATA3	ORPHA:2237
HP:0000818	Abnormality of the endocrine system	79600	TCTN1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	79848	CSPP1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	153241	CEP120	ORPHA:475
HP:0000818	Abnormality of the endocrine system	153241	CEP120	ORPHA:220493
HP:0000818	Abnormality of the endocrine system	65250	CPLANE1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	200894	ARL13B	ORPHA:475
HP:0000818	Abnormality of the endocrine system	9731	CEP104	ORPHA:475
HP:0000818	Abnormality of the endocrine system	219844	HYLS1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	219854	TMEM218	ORPHA:475
HP:0000818	Abnormality of the endocrine system	95681	CEP41	ORPHA:475
HP:0000818	Abnormality of the endocrine system	95681	CEP41	ORPHA:220493
HP:0000818	Abnormality of the endocrine system	9786	KIAA0586	ORPHA:475
HP:0000818	Abnormality of the endocrine system	56623	INPP5E	ORPHA:475
HP:0000818	Abnormality of the endocrine system	56623	INPP5E	ORPHA:1454
HP:0000818	Abnormality of the endocrine system	56623	INPP5E	ORPHA:220493
HP:0000818	Abnormality of the endocrine system	79867	TCTN2	ORPHA:475
HP:0000818	Abnormality of the endocrine system	80776	B9D2	ORPHA:475
HP:0000818	Abnormality of the endocrine system	10464	PIBF1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	80210	ARMC9	ORPHA:475
HP:0000818	Abnormality of the endocrine system	23116	TOGARAM1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	25776	CBY1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	27077	B9D1	ORPHA:475
HP:0000818	Abnormality of the endocrine system	65062	TMEM237	ORPHA:475
HP:0000818	Abnormality of the endocrine system	65062	TMEM237	ORPHA:220497
HP:0000818	Abnormality of the endocrine system	65062	TMEM237	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	5308	PITX2	ORPHA:782
HP:0000818	Abnormality of the endocrine system	2296	FOXC1	ORPHA:782
HP:0000818	Abnormality of the endocrine system	652	BMP4	OMIM:607932
HP:0000818	Abnormality of the endocrine system	652	BMP4	ORPHA:139471
HP:0000818	Abnormality of the endocrine system	23322	RPGRIP1L	ORPHA:220497
HP:0000818	Abnormality of the endocrine system	23322	RPGRIP1L	ORPHA:1454
HP:0000818	Abnormality of the endocrine system	57545	CC2D2A	ORPHA:1454
HP:0000818	Abnormality of the endocrine system	57545	CC2D2A	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	79583	TMEM231	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	51524	TMEM138	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	23090	ZNF423	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	51259	TMEM216	ORPHA:2318
HP:0000818	Abnormality of the endocrine system	760	CA2	ORPHA:2785
HP:0000818	Abnormality of the endocrine system	55154	MSTO1	OMIM:617675
HP:0000818	Abnormality of the endocrine system	55154	MSTO1	ORPHA:502423
HP:0000818	Abnormality of the endocrine system	5618	PRLR	OMIM:615555
HP:0000818	Abnormality of the endocrine system	23247	KATNIP	OMIM:616784
HP:0000818	Abnormality of the endocrine system	7737	RNF113A	OMIM:300953
HP:0000818	Abnormality of the endocrine system	2917	GRM7	OMIM:618922
HP:0000818	Abnormality of the endocrine system	5336	PLCG2	OMIM:614468
HP:0000818	Abnormality of the endocrine system	27022	FOXD3	OMIM:607836
HP:0000818	Abnormality of the endocrine system	716	C1S	OMIM:613783
HP:0000818	Abnormality of the endocrine system	26191	PTPN22	ORPHA:397
HP:0000818	Abnormality of the endocrine system	26191	PTPN22	ORPHA:900
HP:0000818	Abnormality of the endocrine system	3106	HLA-B	ORPHA:397
HP:0000818	Abnormality of the endocrine system	3123	HLA-DRB1	ORPHA:397
HP:0000818	Abnormality of the endocrine system	3123	HLA-DRB1	ORPHA:797
HP:0000818	Abnormality of the endocrine system	8974	P4HA2	ORPHA:397
HP:0000818	Abnormality of the endocrine system	79989	IFT56	OMIM:619534
HP:0000818	Abnormality of the endocrine system	551	AVP	ORPHA:30925
HP:0000818	Abnormality of the endocrine system	92335	STRADA	ORPHA:500533
HP:0000818	Abnormality of the endocrine system	92335	STRADA	OMIM:611087
HP:0000818	Abnormality of the endocrine system	1493	CTLA4	ORPHA:900
HP:0000818	Abnormality of the endocrine system	3115	HLA-DPB1	ORPHA:900
HP:0000818	Abnormality of the endocrine system	5657	PRTN3	ORPHA:900
HP:0000818	Abnormality of the endocrine system	3113	HLA-DPA1	ORPHA:900
HP:0000818	Abnormality of the endocrine system	6091	ROBO1	ORPHA:95496
HP:0000818	Abnormality of the endocrine system	23432	GPR161	ORPHA:95496
HP:0000818	Abnormality of the endocrine system	2717	GLA	ORPHA:324
HP:0000818	Abnormality of the endocrine system	5631	PRPS1	ORPHA:423479
HP:0000818	Abnormality of the endocrine system	257	ALX3	ORPHA:391474
HP:0000818	Abnormality of the endocrine system	11277	TREX1	OMIM:225750
HP:0000818	Abnormality of the endocrine system	56244	BTNL2	ORPHA:797
HP:0000818	Abnormality of the endocrine system	26585	GREM1	ORPHA:157794
HP:0000818	Abnormality of the endocrine system	6597	SMARCA4	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	6659	SOX4	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	8289	ARID1A	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	5977	DPF2	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	6601	SMARCC2	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	6602	SMARCD1	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	57492	ARID1B	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	196528	ARID2	ORPHA:1465
HP:0000818	Abnormality of the endocrine system	182	JAG1	OMIM:118450
HP:0000818	Abnormality of the endocrine system	83483	PLVAP	OMIM:618183
HP:0000818	Abnormality of the endocrine system	51081	MRPS7	OMIM:617872
HP:0000818	Abnormality of the endocrine system	7355	SLC35A2	ORPHA:356961
HP:0000818	Abnormality of the endocrine system	23137	SMC5	OMIM:620185
HP:0000818	Abnormality of the endocrine system	5159	PDGFRB	OMIM:601812
HP:0000818	Abnormality of the endocrine system	5696	PSMB8	OMIM:256040
HP:0000818	Abnormality of the endocrine system	55186	SLC25A36	OMIM:620211
HP:0000818	Abnormality of the endocrine system	50485	SMARCAL1	ORPHA:1830
HP:0000818	Abnormality of the endocrine system	6567	SLC16A2	ORPHA:59
HP:0000818	Abnormality of the endocrine system	7067	THRA	OMIM:614450
HP:0000818	Abnormality of the endocrine system	5346	PLIN1	ORPHA:280356
HP:0000818	Abnormality of the endocrine system	84196	USP48	ORPHA:96253
HP:0000818	Abnormality of the endocrine system	9101	USP8	ORPHA:96253
HP:0000818	Abnormality of the endocrine system	64072	CDH23	ORPHA:96253
HP:0000818	Abnormality of the endocrine system	673	BRAF	ORPHA:96253
HP:0000818	Abnormality of the endocrine system	546	ATRX	ORPHA:96253
HP:0000818	Abnormality of the endocrine system	2778	GNAS	OMIM:174800
HP:0000818	Abnormality of the endocrine system	2778	GNAS	OMIM:219080
HP:0000818	Abnormality of the endocrine system	2778	GNAS	ORPHA:562
HP:0000818	Abnormality of the endocrine system	2778	GNAS	ORPHA:189427
HP:0000818	Abnormality of the endocrine system	5566	PRKACA	OMIM:615830
HP:0000818	Abnormality of the endocrine system	5566	PRKACA	ORPHA:189439
HP:0000818	Abnormality of the endocrine system	8622	PDE8B	ORPHA:189439
HP:0000818	Abnormality of the endocrine system	8622	PDE8B	OMIM:614190
HP:0000818	Abnormality of the endocrine system	50940	PDE11A	ORPHA:189439
HP:0000818	Abnormality of the endocrine system	50940	PDE11A	OMIM:610475
HP:0000818	Abnormality of the endocrine system	50940	PDE11A	ORPHA:1359
HP:0000818	Abnormality of the endocrine system	79798	ARMC5	OMIM:615954
HP:0000818	Abnormality of the endocrine system	79798	ARMC5	ORPHA:189427
HP:0000818	Abnormality of the endocrine system	3767	KCNJ11	ORPHA:79644
HP:0000818	Abnormality of the endocrine system	3350	HTR1A	OMIM:614674
HP:0000818	Abnormality of the endocrine system	57502	NLGN4X	OMIM:300495
HP:0000818	Abnormality of the endocrine system	54413	NLGN3	OMIM:300425
HP:0000818	Abnormality of the endocrine system	57477	SHROOM4	ORPHA:85288
HP:0000818	Abnormality of the endocrine system	6999	TDO2	OMIM:600627
HP:0000818	Abnormality of the endocrine system	1576	CYP3A4	OMIM:619073
HP:0000818	Abnormality of the endocrine system	5251	PHEX	OMIM:307800
HP:0000818	Abnormality of the endocrine system	79577	CDC73	ORPHA:99880
HP:0000818	Abnormality of the endocrine system	79577	CDC73	ORPHA:99879
HP:0000818	Abnormality of the endocrine system	79577	CDC73	ORPHA:143
HP:0000818	Abnormality of the endocrine system	9365	KL	OMIM:617994
HP:0000818	Abnormality of the endocrine system	1594	CYP27B1	ORPHA:289157
HP:0000818	Abnormality of the endocrine system	1594	CYP27B1	OMIM:264700
HP:0000818	Abnormality of the endocrine system	120227	CYP2R1	ORPHA:289157
HP:0000818	Abnormality of the endocrine system	9247	GCM2	ORPHA:99879
HP:0000818	Abnormality of the endocrine system	8675	STX16	ORPHA:94089
HP:0000818	Abnormality of the endocrine system	8675	STX16	OMIM:603233
HP:0000818	Abnormality of the endocrine system	149775	GNAS-AS1	OMIM:603233
HP:0000818	Abnormality of the endocrine system	7421	VDR	OMIM:277440
HP:0000818	Abnormality of the endocrine system	6569	SLC34A1	OMIM:613388
HP:0000818	Abnormality of the endocrine system	10686	CLDN16	OMIM:248250
HP:0000818	Abnormality of the endocrine system	50964	SOST	OMIM:122860
HP:0000818	Abnormality of the endocrine system	3763	KCNJ6	OMIM:614098
HP:0000818	Abnormality of the endocrine system	8815	BANF1	OMIM:614008
HP:0000818	Abnormality of the endocrine system	3953	LEPR	ORPHA:179494
HP:0000818	Abnormality of the endocrine system	10555	AGPAT2	OMIM:608594
HP:0000818	Abnormality of the endocrine system	3291	HSD11B2	ORPHA:320
HP:0000818	Abnormality of the endocrine system	3291	HSD11B2	OMIM:218030
HP:0000818	Abnormality of the endocrine system	4306	NR3C2	OMIM:605115
HP:0000818	Abnormality of the endocrine system	6338	SCNN1B	OMIM:177200
HP:0000818	Abnormality of the endocrine system	65125	WNK1	OMIM:614492
HP:0000818	Abnormality of the endocrine system	5447	POR	OMIM:201750
HP:0000818	Abnormality of the endocrine system	6340	SCNN1G	OMIM:618114
HP:0000818	Abnormality of the endocrine system	6337	SCNN1A	OMIM:618126
HP:0000818	Abnormality of the endocrine system	776	CACNA1D	OMIM:615474
HP:0000818	Abnormality of the endocrine system	554	AVPR2	OMIM:300539
HP:0000818	Abnormality of the endocrine system	1584	CYP11B1	OMIM:202010
HP:0000818	Abnormality of the endocrine system	1584	CYP11B1	OMIM:103900
HP:0000818	Abnormality of the endocrine system	1584	CYP11B1	ORPHA:90795
HP:0000818	Abnormality of the endocrine system	3762	KCNJ5	OMIM:613677
HP:0000818	Abnormality of the endocrine system	1586	CYP17A1	ORPHA:90793
HP:0000818	Abnormality of the endocrine system	1161	ERCC8	OMIM:216400
HP:0000818	Abnormality of the endocrine system	5144	PDE4D	ORPHA:280651
HP:0000818	Abnormality of the endocrine system	326	AIRE	OMIM:240300
HP:0000818	Abnormality of the endocrine system	326	AIRE	ORPHA:3453
HP:0000818	Abnormality of the endocrine system	1583	CYP11A1	ORPHA:168558
HP:0000818	Abnormality of the endocrine system	1583	CYP11A1	ORPHA:289548
HP:0000818	Abnormality of the endocrine system	1585	CYP11B2	OMIM:203400
HP:0000818	Abnormality of the endocrine system	1585	CYP11B2	OMIM:610600
HP:0000818	Abnormality of the endocrine system	1585	CYP11B2	ORPHA:556030
HP:0000818	Abnormality of the endocrine system	8086	AAAS	OMIM:231550
HP:0000818	Abnormality of the endocrine system	56246	MRAP	ORPHA:361
HP:0000818	Abnormality of the endocrine system	6770	STAR	ORPHA:361
HP:0000818	Abnormality of the endocrine system	4158	MC2R	ORPHA:361
HP:0000818	Abnormality of the endocrine system	23530	NNT	ORPHA:361
HP:0000818	Abnormality of the endocrine system	10587	TXNRD2	ORPHA:361
HP:0000818	Abnormality of the endocrine system	190	NR0B1	OMIM:300200
HP:0000818	Abnormality of the endocrine system	3930	LBR	OMIM:215140
HP:0000818	Abnormality of the endocrine system	6566	SLC16A1	OMIM:610021
HP:0000818	Abnormality of the endocrine system	129563	DIS3L2	OMIM:267000
HP:0000818	Abnormality of the endocrine system	2719	GPC3	OMIM:312870
HP:0000818	Abnormality of the endocrine system	2719	GPC3	ORPHA:373
HP:0000818	Abnormality of the endocrine system	2239	GPC4	OMIM:312870
HP:0000818	Abnormality of the endocrine system	2239	GPC4	ORPHA:373
HP:0000818	Abnormality of the endocrine system	2184	FAH	OMIM:276700
HP:0000818	Abnormality of the endocrine system	5092	PCBD1	ORPHA:1578
HP:0000818	Abnormality of the endocrine system	6909	TBX2	OMIM:618223
HP:0000818	Abnormality of the endocrine system	92840	REEP6	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6094	ROM1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6017	RLBP1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	7401	CLRN1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	24	ABCA4	ORPHA:791
HP:0000818	Abnormality of the endocrine system	130557	ZNF513	ORPHA:791
HP:0000818	Abnormality of the endocrine system	582	BBS1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	92211	CDHR1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	23568	ARL2BP	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6121	RPE65	ORPHA:791
HP:0000818	Abnormality of the endocrine system	54806	AHI1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6101	RP1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	3419	IDH3A	ORPHA:791
HP:0000818	Abnormality of the endocrine system	4751	NEK2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	346007	EYS	ORPHA:791
HP:0000818	Abnormality of the endocrine system	8100	IFT88	ORPHA:791
HP:0000818	Abnormality of the endocrine system	23020	SNRNP200	ORPHA:791
HP:0000818	Abnormality of the endocrine system	762	CA4	ORPHA:791
HP:0000818	Abnormality of the endocrine system	138050	HGSNAT	ORPHA:791
HP:0000818	Abnormality of the endocrine system	196	AHR	ORPHA:791
HP:0000818	Abnormality of the endocrine system	3614	IMPDH1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	123016	TTC8	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6103	RPGR	ORPHA:791
HP:0000818	Abnormality of the endocrine system	1406	CRX	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5148	PDE6G	ORPHA:791
HP:0000818	Abnormality of the endocrine system	26160	IFT172	ORPHA:791
HP:0000818	Abnormality of the endocrine system	26121	PRPF31	ORPHA:791
HP:0000818	Abnormality of the endocrine system	583	BBS2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	4117	MAK	ORPHA:791
HP:0000818	Abnormality of the endocrine system	25794	FSCN2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	375298	CERKL	ORPHA:791
HP:0000818	Abnormality of the endocrine system	3420	IDH3B	ORPHA:791
HP:0000818	Abnormality of the endocrine system	57670	KIAA1549	ORPHA:791
HP:0000818	Abnormality of the endocrine system	7275	TUB	ORPHA:791
HP:0000818	Abnormality of the endocrine system	24148	PRPF6	ORPHA:791
HP:0000818	Abnormality of the endocrine system	23418	CRB1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	10461	MERTK	ORPHA:791
HP:0000818	Abnormality of the endocrine system	57709	SLC7A14	ORPHA:791
HP:0000818	Abnormality of the endocrine system	768206	PRCD	ORPHA:791
HP:0000818	Abnormality of the endocrine system	7399	USH2A	ORPHA:791
HP:0000818	Abnormality of the endocrine system	23370	ARHGEF18	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5949	RBP3	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6010	RHO	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6100	RP9	ORPHA:791
HP:0000818	Abnormality of the endocrine system	10002	NR2E3	ORPHA:791
HP:0000818	Abnormality of the endocrine system	9227	LRAT	ORPHA:791
HP:0000818	Abnormality of the endocrine system	84140	FAM161A	ORPHA:791
HP:0000818	Abnormality of the endocrine system	55812	SPATA7	ORPHA:791
HP:0000818	Abnormality of the endocrine system	55624	POMGNT1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	79797	ZNF408	ORPHA:791
HP:0000818	Abnormality of the endocrine system	403	ARL3	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5145	PDE6A	ORPHA:791
HP:0000818	Abnormality of the endocrine system	10210	TOPORS	ORPHA:791
HP:0000818	Abnormality of the endocrine system	8842	PROM1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	9128	PRPF4	ORPHA:791
HP:0000818	Abnormality of the endocrine system	145226	RDH12	ORPHA:791
HP:0000818	Abnormality of the endocrine system	50939	IMPG2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	8481	OFD1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	49855	SCAPER	ORPHA:791
HP:0000818	Abnormality of the endocrine system	9742	IFT140	ORPHA:791
HP:0000818	Abnormality of the endocrine system	2979	GUCA1B	ORPHA:791
HP:0000818	Abnormality of the endocrine system	1259	CNGA1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	1258	CNGB1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	60509	AGBL5	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5961	PRPH2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	388939	PCARE	ORPHA:791
HP:0000818	Abnormality of the endocrine system	7439	BEST1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	9785	DHX38	ORPHA:791
HP:0000818	Abnormality of the endocrine system	7287	TULP1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5995	RGR	ORPHA:791
HP:0000818	Abnormality of the endocrine system	9129	PRPF3	ORPHA:791
HP:0000818	Abnormality of the endocrine system	55975	KLHL7	ORPHA:791
HP:0000818	Abnormality of the endocrine system	3617	IMPG1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	94137	RP1L1	ORPHA:791
HP:0000818	Abnormality of the endocrine system	5158	PDE6B	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6102	RP2	ORPHA:791
HP:0000818	Abnormality of the endocrine system	55857	KIZ	ORPHA:791
HP:0000818	Abnormality of the endocrine system	64218	SEMA4A	ORPHA:791
HP:0000818	Abnormality of the endocrine system	4901	NRL	ORPHA:791
HP:0000818	Abnormality of the endocrine system	157657	CFAP418	ORPHA:791
HP:0000818	Abnormality of the endocrine system	10594	PRPF8	ORPHA:791
HP:0000818	Abnormality of the endocrine system	84100	ARL6	ORPHA:791
HP:0000818	Abnormality of the endocrine system	6295	SAG	ORPHA:791
HP:0000818	Abnormality of the endocrine system	79947	DHDDS	ORPHA:791
HP:0000818	Abnormality of the endocrine system	63036	CELA2A	OMIM:618620
HP:0000818	Abnormality of the endocrine system	26580	BSCL2	OMIM:269700
HP:0000818	Abnormality of the endocrine system	4160	MC4R	ORPHA:71529
HP:0000818	Abnormality of the endocrine system	3643	INSR	ORPHA:2297
HP:0000818	Abnormality of the endocrine system	7518	XRCC4	ORPHA:99812
HP:0000818	Abnormality of the endocrine system	3981	LIG4	ORPHA:99812
HP:0000818	Abnormality of the endocrine system	3981	LIG4	OMIM:606593
HP:0000818	Abnormality of the endocrine system	7486	WRN	ORPHA:902
HP:0000818	Abnormality of the endocrine system	4556	MT-TE	ORPHA:225
HP:0000818	Abnormality of the endocrine system	4566	MT-TK	ORPHA:225
HP:0000818	Abnormality of the endocrine system	4040	LRP6	OMIM:610947
HP:0000818	Abnormality of the endocrine system	472	ATM	ORPHA:100
HP:0000818	Abnormality of the endocrine system	7555	CNBP	OMIM:602668
HP:0000818	Abnormality of the endocrine system	5468	PPARG	OMIM:604367
HP:0000818	Abnormality of the endocrine system	5468	PPARG	OMIM:125853
HP:0000818	Abnormality of the endocrine system	6934	TCF7L2	OMIM:125853
HP:0000818	Abnormality of the endocrine system	3569	IL6	OMIM:125853
HP:0000818	Abnormality of the endocrine system	3990	LIPC	OMIM:125853
HP:0000818	Abnormality of the endocrine system	9479	MAPK8IP1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	56729	RETN	OMIM:125853
HP:0000818	Abnormality of the endocrine system	4544	MTNR1B	OMIM:125853
HP:0000818	Abnormality of the endocrine system	5506	PPP1R3A	OMIM:125853
HP:0000818	Abnormality of the endocrine system	7466	WFS1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	7466	WFS1	OMIM:614296
HP:0000818	Abnormality of the endocrine system	10644	IGF2BP2	OMIM:125853
HP:0000818	Abnormality of the endocrine system	5167	ENPP1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	5770	PTPN1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	8660	IRS2	OMIM:125853
HP:0000818	Abnormality of the endocrine system	3159	HMGA1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	6928	HNF1B	OMIM:125853
HP:0000818	Abnormality of the endocrine system	3667	IRS1	OMIM:125853
HP:0000818	Abnormality of the endocrine system	169026	SLC30A8	OMIM:125853
HP:0000818	Abnormality of the endocrine system	2820	GPD2	OMIM:125853
HP:0000818	Abnormality of the endocrine system	6514	SLC2A2	OMIM:125853
HP:0000818	Abnormality of the endocrine system	641	BLM	OMIM:210900
HP:0000818	Abnormality of the endocrine system	23600	AMACR	ORPHA:79095
HP:0000818	Abnormality of the endocrine system	1786	DNMT1	OMIM:604121
HP:0000818	Abnormality of the endocrine system	51218	GLRX5	OMIM:616860
HP:0000818	Abnormality of the endocrine system	2200	FBN1	ORPHA:2833
HP:0000818	Abnormality of the endocrine system	10273	STUB1	ORPHA:412057
HP:0000818	Abnormality of the endocrine system	9149	DYRK1B	OMIM:615812
HP:0000818	Abnormality of the endocrine system	847	CAT	ORPHA:926
HP:0000818	Abnormality of the endocrine system	4340	MOG	OMIM:614250
HP:0000818	Abnormality of the endocrine system	4000	LMNA	OMIM:151660
HP:0000818	Abnormality of the endocrine system	4000	LMNA	ORPHA:79474
HP:0000818	Abnormality of the endocrine system	833	CARS1	OMIM:618891
HP:0000818	Abnormality of the endocrine system	64788	LMF1	OMIM:246650
HP:0000818	Abnormality of the endocrine system	5333	PLCD1	ORPHA:2387
HP:0000818	Abnormality of the endocrine system	84984	CEP19	OMIM:615703
HP:0000818	Abnormality of the endocrine system	5116	PCNT	OMIM:210720
HP:0000818	Abnormality of the endocrine system	25942	SIN3A	OMIM:613406
HP:0000818	Abnormality of the endocrine system	1188	CLCNKB	ORPHA:358
HP:0000818	Abnormality of the endocrine system	6559	SLC12A3	ORPHA:358
HP:0000818	Abnormality of the endocrine system	5192	PEX10	ORPHA:247815
HP:0000818	Abnormality of the endocrine system	1588	CYP19A1	ORPHA:91
HP:0000818	Abnormality of the endocrine system	7840	ALMS1	OMIM:203800
HP:0000818	Abnormality of the endocrine system	9817	KEAP1	ORPHA:276399
HP:0000818	Abnormality of the endocrine system	23328	SASH1	OMIM:618373
HP:0000818	Abnormality of the endocrine system	8471	IRS4	OMIM:301035
HP:0000818	Abnormality of the endocrine system	2737	GLI3	ORPHA:672
HP:0000818	Abnormality of the endocrine system	84172	POLR1B	ORPHA:861
HP:0000818	Abnormality of the endocrine system	9533	POLR1C	ORPHA:861
HP:0000818	Abnormality of the endocrine system	51082	POLR1D	ORPHA:861
HP:0000818	Abnormality of the endocrine system	6949	TCOF1	ORPHA:861
HP:0000818	Abnormality of the endocrine system	7849	PAX8	OMIM:218700
HP:0000818	Abnormality of the endocrine system	7849	PAX8	ORPHA:95720
HP:0000818	Abnormality of the endocrine system	5626	PROP1	ORPHA:226307
HP:0000818	Abnormality of the endocrine system	89884	LHX4	ORPHA:226307
HP:0000818	Abnormality of the endocrine system	8022	LHX3	ORPHA:226307
HP:0000818	Abnormality of the endocrine system	5449	POU1F1	ORPHA:226307
HP:0000818	Abnormality of the endocrine system	8820	HESX1	ORPHA:226307
HP:0000818	Abnormality of the endocrine system	50814	NSDHL	OMIM:308050
HP:0000818	Abnormality of the endocrine system	92949	ADAMTSL1	ORPHA:521445
HP:0000818	Abnormality of the endocrine system	1482	NKX2-5	OMIM:225250
HP:0000818	Abnormality of the endocrine system	2783	GNB2	OMIM:619503
HP:0000818	Abnormality of the endocrine system	7253	TSHR	OMIM:275200
HP:0000818	Abnormality of the endocrine system	7253	TSHR	ORPHA:90673
HP:0000818	Abnormality of the endocrine system	7253	TSHR	ORPHA:95720
HP:0000818	Abnormality of the endocrine system	23522	KAT6B	ORPHA:3047
HP:0000818	Abnormality of the endocrine system	8085	KMT2D	OMIM:620186
HP:0000818	Abnormality of the endocrine system	7201	TRHR	ORPHA:99832
HP:0000818	Abnormality of the endocrine system	5172	SLC26A4	ORPHA:95720
HP:0000818	Abnormality of the endocrine system	7252	TSHB	ORPHA:90674
HP:0000818	Abnormality of the endocrine system	4313	MMP2	ORPHA:371428
HP:0000818	Abnormality of the endocrine system	4323	MMP14	ORPHA:371428
HP:0000818	Abnormality of the endocrine system	2304	FOXE1	ORPHA:319487
HP:0000818	Abnormality of the endocrine system	3026	HABP2	ORPHA:319487
HP:0000818	Abnormality of the endocrine system	9562	MINPP1	ORPHA:319487
HP:0000818	Abnormality of the endocrine system	7528	YY1	ORPHA:97279
HP:0000818	Abnormality of the endocrine system	2746	GLUD1	OMIM:606762
HP:0000818	Abnormality of the endocrine system	10483	SEC23B	ORPHA:201
HP:0000818	Abnormality of the endocrine system	5728	PTEN	ORPHA:201
HP:0000818	Abnormality of the endocrine system	207	AKT1	ORPHA:201
HP:0000818	Abnormality of the endocrine system	205717	USF3	ORPHA:201
HP:0000818	Abnormality of the endocrine system	5290	PIK3CA	ORPHA:201
HP:0000818	Abnormality of the endocrine system	100144748	KLLN	ORPHA:201
HP:0000818	Abnormality of the endocrine system	4893	NRAS	OMIM:188470
HP:0000818	Abnormality of the endocrine system	57522	SRGAP1	OMIM:188470
HP:0000818	Abnormality of the endocrine system	3265	HRAS	OMIM:188470
HP:0000818	Abnormality of the endocrine system	1028	CDKN1C	OMIM:130650
HP:0000818	Abnormality of the endocrine system	10984	KCNQ1OT1	OMIM:130650
HP:0000818	Abnormality of the endocrine system	3481	IGF2	OMIM:130650
HP:0000818	Abnormality of the endocrine system	3784	KCNQ1	OMIM:130650
HP:0000818	Abnormality of the endocrine system	4193	MDM2	ORPHA:524
HP:0000818	Abnormality of the endocrine system	11200	CHEK2	ORPHA:524
HP:0000818	Abnormality of the endocrine system	7428	VHL	ORPHA:892
HP:0000818	Abnormality of the endocrine system	7428	VHL	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	7428	VHL	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	595	CCND1	ORPHA:892
HP:0000818	Abnormality of the endocrine system	1743	DLST	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	4191	MDH2	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	5979	RET	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	5979	RET	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	6389	SDHA	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	23095	KIF1B	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	2271	FH	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	8402	SLC25A11	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	54949	SDHAF2	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	55654	TMEM127	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	4763	NF1	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	6391	SDHC	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	6391	SDHC	OMIM:605373
HP:0000818	Abnormality of the endocrine system	6392	SDHD	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	6392	SDHD	OMIM:168000
HP:0000818	Abnormality of the endocrine system	6392	SDHD	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	6390	SDHB	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	6390	SDHB	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	6390	SDHB	OMIM:115310
HP:0000818	Abnormality of the endocrine system	4149	MAX	ORPHA:29072
HP:0000818	Abnormality of the endocrine system	1788	DNMT3A	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	2034	EPAS1	ORPHA:276621
HP:0000818	Abnormality of the endocrine system	55278	QRSL1	OMIM:618835
HP:0000818	Abnormality of the endocrine system	5188	GATB	OMIM:618838
HP:0000818	Abnormality of the endocrine system	866	SERPINA6	OMIM:611489
HP:0000818	Abnormality of the endocrine system	283459	GATC	OMIM:618839
HP:0000818	Abnormality of the endocrine system	79633	FAT4	ORPHA:314679
HP:0000818	Abnormality of the endocrine system	8642	DCHS1	ORPHA:314679
HP:0000818	Abnormality of the endocrine system	1175	AP2S1	OMIM:600740
HP:0000818	Abnormality of the endocrine system	2767	GNA11	OMIM:145981
HP:0000818	Abnormality of the endocrine system	1621	DBH	OMIM:223360
HP:0000818	Abnormality of the endocrine system	6794	STK11	OMIM:175200
HP:0000818	Abnormality of the endocrine system	55670	PEX26	ORPHA:44
HP:0000818	Abnormality of the endocrine system	55670	PEX26	ORPHA:912
HP:0000818	Abnormality of the endocrine system	5824	PEX19	ORPHA:44
HP:0000818	Abnormality of the endocrine system	5824	PEX19	ORPHA:912
HP:0000818	Abnormality of the endocrine system	5828	PEX2	ORPHA:44
HP:0000818	Abnormality of the endocrine system	5828	PEX2	ORPHA:912
HP:0000818	Abnormality of the endocrine system	8504	PEX3	ORPHA:44
HP:0000818	Abnormality of the endocrine system	8504	PEX3	ORPHA:912
HP:0000818	Abnormality of the endocrine system	9409	PEX16	ORPHA:44
HP:0000818	Abnormality of the endocrine system	9409	PEX16	ORPHA:912
HP:0000818	Abnormality of the endocrine system	8799	PEX11B	ORPHA:44
HP:0000818	Abnormality of the endocrine system	8799	PEX11B	ORPHA:912
HP:0000818	Abnormality of the endocrine system	5193	PEX12	ORPHA:44
HP:0000818	Abnormality of the endocrine system	5193	PEX12	ORPHA:912
HP:0000818	Abnormality of the endocrine system	5194	PEX13	ORPHA:44
HP:0000818	Abnormality of the endocrine system	5194	PEX13	ORPHA:912
HP:0000818	Abnormality of the endocrine system	5195	PEX14	ORPHA:44
HP:0000818	Abnormality of the endocrine system	5195	PEX14	ORPHA:912
HP:0000818	Abnormality of the endocrine system	284058	KANSL1	ORPHA:363958
HP:0000818	Abnormality of the endocrine system	284058	KANSL1	ORPHA:363965
HP:0000818	Abnormality of the endocrine system	26123	TCTN3	ORPHA:2753
HP:0000818	Abnormality of the endocrine system	1589	CYP21A2	OMIM:201910
HP:0000818	Abnormality of the endocrine system	10046	MAMLD1	ORPHA:95706
HP:0000818	Abnormality of the endocrine system	140732	SUN5	ORPHA:529970
HP:0000818	Abnormality of the endocrine system	83449	PMFBP1	ORPHA:529970
HP:0000818	Abnormality of the endocrine system	147372	CCBE1	OMIM:235510
HP:0000818	Abnormality of the endocrine system	2245	FGD1	OMIM:305400
HP:0000818	Abnormality of the endocrine system	286053	NSMCE2	OMIM:617253
HP:0000818	Abnormality of the endocrine system	1730	DIAPH2	OMIM:300511
HP:0000818	Abnormality of the endocrine system	402381	SOHLH1	OMIM:617690
HP:0000818	Abnormality of the endocrine system	2100	ESR2	OMIM:618187
HP:0000818	Abnormality of the endocrine system	84515	MCM8	OMIM:612885
HP:0000818	Abnormality of the endocrine system	125150	ZSWIM7	OMIM:619834
HP:0000818	Abnormality of the endocrine system	317761	C14orf39	OMIM:619203
HP:0000818	Abnormality of the endocrine system	1528	CYB5A	ORPHA:90796
HP:0000818	Abnormality of the endocrine system	84225	ZMYND15	OMIM:615842
HP:0000818	Abnormality of the endocrine system	164045	HFM1	OMIM:615724
HP:0000818	Abnormality of the endocrine system	56945	MRPS22	OMIM:618117
HP:0000818	Abnormality of the endocrine system	10734	STAG3	OMIM:615723
HP:0000818	Abnormality of the endocrine system	254394	MCM9	OMIM:616185
HP:0000818	Abnormality of the endocrine system	29893	PSMC3IP	OMIM:614324
HP:0000818	Abnormality of the endocrine system	4438	MSH4	OMIM:619938
HP:0000818	Abnormality of the endocrine system	8192	CLPP	OMIM:614129
HP:0000818	Abnormality of the endocrine system	646	BNC1	OMIM:618723
HP:0000818	Abnormality of the endocrine system	658	BMPR1B	OMIM:609441
HP:0000818	Abnormality of the endocrine system	93953	GCNA	OMIM:301077
HP:0000818	Abnormality of the endocrine system	2661	GDF9	OMIM:618014
HP:0000818	Abnormality of the endocrine system	23514	SPIDR	OMIM:619665
HP:0000818	Abnormality of the endocrine system	4439	MSH5	OMIM:617442
HP:0000818	Abnormality of the endocrine system	55012	PPP2R3C	OMIM:618419
HP:0000818	Abnormality of the endocrine system	344018	FIGLA	OMIM:612310
HP:0000818	Abnormality of the endocrine system	158401	SHOC1	OMIM:619949
HP:0000818	Abnormality of the endocrine system	6845	VAMP7	ORPHA:251510
HP:0000818	Abnormality of the endocrine system	51741	WWOX	ORPHA:251510
HP:0000818	Abnormality of the endocrine system	58524	DMRT3	ORPHA:251510
HP:0000818	Abnormality of the endocrine system	23414	ZFPM2	ORPHA:251510
HP:0000818	Abnormality of the endocrine system	2626	GATA4	ORPHA:251510
HP:0000818	Abnormality of the endocrine system	1967	EIF2B1	OMIM:603896
HP:0000818	Abnormality of the endocrine system	668	FOXL2	ORPHA:572333
HP:0000818	Abnormality of the endocrine system	4041	LRP5	ORPHA:2788
HP:0000818	Abnormality of the endocrine system	7200	TRH	OMIM:275120
HP:0000818	Abnormality of the endocrine system	51256	TBC1D7	OMIM:248000
HP:0000818	Abnormality of the endocrine system	65266	WNK4	OMIM:614491
HP:0000818	Abnormality of the endocrine system	26249	KLHL3	OMIM:614495
HP:0000818	Abnormality of the endocrine system	8452	CUL3	OMIM:614496
HP:0000818	Abnormality of the endocrine system	91147	TMEM67	OMIM:602152
HP:0000818	Abnormality of the endocrine system	283987	HID1	OMIM:619983
HP:0000818	Abnormality of the endocrine system	5456	POU3F4	ORPHA:1435
HP:0000818	Abnormality of the endocrine system	7276	TTR	OMIM:145680
HP:0000818	Abnormality of the endocrine system	6329	SCN4A	ORPHA:681
HP:0000818	Abnormality of the endocrine system	10008	KCNE3	ORPHA:681
HP:0000818	Abnormality of the endocrine system	60676	PAPPA2	OMIM:619489
HP:0000818	Abnormality of the endocrine system	57531	HACE1	ORPHA:464282
HP:0000818	Abnormality of the endocrine system	29929	ALG6	ORPHA:79320
HP:0000818	Abnormality of the endocrine system	10269	ZMPSTE24	ORPHA:740
HP:0000818	Abnormality of the endocrine system	2138	EYA1	OMIM:113650
HP:0000818	Abnormality of the endocrine system	6495	SIX1	OMIM:113650
HP:0000818	Abnormality of the endocrine system	2215	FCGR3B	ORPHA:464370
HP:0000818	Abnormality of the endocrine system	11330	CTRC	ORPHA:103918
HP:0000818	Abnormality of the endocrine system	6690	SPINK1	ORPHA:103918
HP:0000818	Abnormality of the endocrine system	8260	NAA10	OMIM:300855
HP:0000818	Abnormality of the endocrine system	81839	VANGL1	ORPHA:3027
HP:0000818	Abnormality of the endocrine system	80199	FUZ	ORPHA:3027
HP:0000818	Abnormality of the endocrine system	4524	MTHFR	ORPHA:563612
HP:0000818	Abnormality of the endocrine system	4524	MTHFR	ORPHA:563609
HP:0000818	Abnormality of the endocrine system	57216	VANGL2	ORPHA:563612
HP:0000818	Abnormality of the endocrine system	57216	VANGL2	ORPHA:563609
HP:0000818	Abnormality of the endocrine system	2697	GJA1	ORPHA:2248
HP:0000818	Abnormality of the endocrine system	9915	ARNT2	ORPHA:3157
HP:0000818	Abnormality of the endocrine system	1280	COL2A1	ORPHA:93346
HP:0000818	Abnormality of the endocrine system	359	AQP2	OMIM:125800
HP:0000818	Abnormality of the endocrine system	359	AQP2	ORPHA:223
HP:0000818	Abnormality of the endocrine system	63894	VIPAS39	OMIM:613404
HP:0000818	Abnormality of the endocrine system	26276	VPS33B	OMIM:208085
HP:0000818	Abnormality of the endocrine system	54675	CRLS1	OMIM:620167
HP:0000818	Abnormality of the endocrine system	1387	CREBBP	OMIM:180849
HP:0000818	Abnormality of the endocrine system	2033	EP300	OMIM:180849
HP:0000818	Abnormality of the endocrine system	128989	TANGO2	OMIM:616878
HP:0000818	Abnormality of the endocrine system	1859	DYRK1A	ORPHA:268261
HP:0000818	Abnormality of the endocrine system	7403	KDM6A	OMIM:147920
HP:0000818	Abnormality of the endocrine system	1984	EIF5A	OMIM:619376
HP:0000818	Abnormality of the endocrine system	3988	LIPA	OMIM:278000
HP:0000818	Abnormality of the endocrine system	3988	LIPA	ORPHA:75233
HP:0000818	Abnormality of the endocrine system	3988	LIPA	ORPHA:75234
HP:0000818	Abnormality of the endocrine system	368	ABCC6	ORPHA:51608
HP:0000818	Abnormality of the endocrine system	204	AK2	ORPHA:33355
HP:0000818	Abnormality of the endocrine system	199857	ALG14	OMIM:619036
HP:0000818	Abnormality of the endocrine system	7020	TFAP2A	OMIM:113620
HP:0000818	Abnormality of the endocrine system	4281	MID1	ORPHA:2745
HP:0000818	Abnormality of the endocrine system	55599	RNPC3	OMIM:618160
HP:0000818	Abnormality of the endocrine system	4841	NONO	ORPHA:466791
HP:0000818	Abnormality of the endocrine system	57688	ZSWIM6	ORPHA:1827
HP:0000818	Abnormality of the endocrine system	9578	CDC42BPB	OMIM:619841
HP:0000818	Abnormality of the endocrine system	55699	IARS2	OMIM:616007
HP:0000818	Abnormality of the endocrine system	93627	TBCK	ORPHA:488632
HP:0000818	Abnormality of the endocrine system	7473	WNT3	OMIM:273395
HP:0000818	Abnormality of the endocrine system	9095	TBX19	OMIM:201400
HP:0000818	Abnormality of the endocrine system	4173	MCM4	OMIM:609981
HP:0000818	Abnormality of the endocrine system	22827	PUF60	ORPHA:508488
HP:0000818	Abnormality of the endocrine system	2077	ERF	OMIM:600775
HP:0000818	Abnormality of the endocrine system	6926	TBX3	OMIM:181450
HP:0000818	Abnormality of the endocrine system	9289	ADGRG1	ORPHA:98889
HP:0000818	Abnormality of the endocrine system	27286	SRPX2	ORPHA:98889
HP:0000818	Abnormality of the endocrine system	51726	DNAJB11	ORPHA:730
HP:0000818	Abnormality of the endocrine system	23193	GANAB	ORPHA:730
HP:0000818	Abnormality of the endocrine system	5310	PKD1	ORPHA:730
HP:0000818	Abnormality of the endocrine system	5311	PKD2	ORPHA:730
HP:0000818	Abnormality of the endocrine system	29880	ALG5	ORPHA:730
HP:0000818	Abnormality of the endocrine system	79796	ALG9	ORPHA:730
HP:0000818	Abnormality of the endocrine system	80114	BICC1	ORPHA:730
HP:0000818	Abnormality of the endocrine system	7080	NKX2-1	ORPHA:209905
HP:0000818	Abnormality of the endocrine system	54539	NDUFB11	OMIM:300952
HP:0000818	Abnormality of the endocrine system	340533	NEXMIF	OMIM:300912
HP:0000818	Abnormality of the endocrine system	51199	NIN	OMIM:614851
HP:0000818	Abnormality of the endocrine system	26040	SETBP1	ORPHA:798
HP:0000818	Abnormality of the endocrine system	389692	MAFA	OMIM:147630
HP:0000818	Abnormality of the endocrine system	4221	MEN1	ORPHA:652
HP:0000818	Abnormality of the endocrine system	4221	MEN1	OMIM:131100
HP:0000818	Abnormality of the endocrine system	1027	CDKN1B	ORPHA:652
HP:0000818	Abnormality of the endocrine system	1027	CDKN1B	ORPHA:276152
HP:0000818	Abnormality of the endocrine system	1026	CDKN1A	ORPHA:652
HP:0000818	Abnormality of the endocrine system	1030	CDKN2B	ORPHA:652
HP:0000818	Abnormality of the endocrine system	1031	CDKN2C	ORPHA:652
HP:0000818	Abnormality of the endocrine system	2260	FGFR1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	2260	FGFR1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	28514	DLL1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	28514	DLL1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	28514	DLL1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	28514	DLL1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	10735	STAG2	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	10735	STAG2	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	2253	FGF8	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	2253	FGF8	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	2253	FGF8	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	2253	FGF8	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	8243	SMC1A	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	6496	SIX3	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	6496	SIX3	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	6496	SIX3	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	6496	SIX3	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	7050	TGIF1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	7050	TGIF1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	7050	TGIF1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	7050	TGIF1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	4838	NODAL	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	4838	NODAL	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	4838	NODAL	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	4838	NODAL	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	6469	SHH	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	6469	SHH	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	6469	SHH	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	6469	SHH	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	7546	ZIC2	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	7546	ZIC2	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	7546	ZIC2	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	7546	ZIC2	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	6491	STIL	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	6491	STIL	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	6491	STIL	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	6491	STIL	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	2619	GAS1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	2619	GAS1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	2619	GAS1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	2619	GAS1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	84976	DISP1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	84976	DISP1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	84976	DISP1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	84976	DISP1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	2736	GLI2	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	2736	GLI2	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	2736	GLI2	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	2736	GLI2	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	8928	FOXH1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	8928	FOXH1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	8928	FOXH1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	8928	FOXH1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	5727	PTCH1	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	5727	PTCH1	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	5727	PTCH1	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	5727	PTCH1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	50937	CDON	ORPHA:220386
HP:0000818	Abnormality of the endocrine system	50937	CDON	ORPHA:93926
HP:0000818	Abnormality of the endocrine system	50937	CDON	ORPHA:93924
HP:0000818	Abnormality of the endocrine system	50937	CDON	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	8314	BAP1	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	4771	NF2	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	6598	SMARCB1	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	5155	PDGFB	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	84231	TRAF7	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	6608	SMO	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	51684	SUFU	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	6605	SMARCE1	ORPHA:2495
HP:0000818	Abnormality of the endocrine system	23007	PLCH1	ORPHA:93925
HP:0000818	Abnormality of the endocrine system	6492	SIM1	ORPHA:398079
HP:0000818	Abnormality of the endocrine system	54551	MAGEL2	ORPHA:398069
HP:0000818	Abnormality of the endocrine system	3290	HSD11B1	OMIM:614662
HP:0000818	Abnormality of the endocrine system	9060	PAPSS2	OMIM:612847
HP:0000818	Abnormality of the endocrine system	8139	GAN	ORPHA:643
HP:0000818	Abnormality of the endocrine system	22796	COG2	ORPHA:435934
HP:0000818	Abnormality of the endocrine system	22796	COG2	OMIM:617395
HP:0000818	Abnormality of the endocrine system	9851	KIAA0753	OMIM:619476
HP:0000818	Abnormality of the endocrine system	9851	KIAA0753	OMIM:619479
HP:0000818	Abnormality of the endocrine system	30813	VSX1	OMIM:614195
HP:0000818	Abnormality of the endocrine system	9968	MED12	ORPHA:93932
HP:0000818	Abnormality of the endocrine system	23031	MAST3	OMIM:620115
HP:0000818	Abnormality of the endocrine system	2693	GHSR	OMIM:615925
HP:0000818	Abnormality of the endocrine system	10165	SLC25A13	ORPHA:247585
HP:0000818	Abnormality of the endocrine system	80232	WDR26	ORPHA:513456
HP:0000818	Abnormality of the endocrine system	2590	GALNT2	OMIM:618885
HP:0000818	Abnormality of the endocrine system	11023	VAX1	OMIM:614402
HP:0000818	Abnormality of the endocrine system	367	AR	ORPHA:90797
HP:0000818	Abnormality of the endocrine system	54766	BTG4	OMIM:619009
HP:0000818	Abnormality of the endocrine system	11128	POLR3A	ORPHA:3455
HP:0000818	Abnormality of the endocrine system	2099	ESR1	OMIM:615363
HP:0000818	Abnormality of the endocrine system	2908	NR3C1	OMIM:615962
HP:0000818	Abnormality of the endocrine system	54361	WNT4	OMIM:158330
HP:0000818	Abnormality of the endocrine system	3284	HSD3B2	ORPHA:90791
HP:0000818	Abnormality of the endocrine system	84133	ZNRF3	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	7157	TP53	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	5573	PRKAR1A	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	1499	CTNNB1	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	1029	CDKN2A	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	7015	TERT	ORPHA:1501
HP:0000818	Abnormality of the endocrine system	23405	DICER1	OMIM:180295
HP:0000818	Abnormality of the endocrine system	324	APC	ORPHA:247806
HP:0000818	Abnormality of the endocrine system	324	APC	ORPHA:79665
HP:0000818	Abnormality of the endocrine system	405753	DUOXA2	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	6528	SLC5A5	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	7038	TG	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	7173	TPO	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	389434	IYD	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	50506	DUOX2	ORPHA:95716
HP:0000818	Abnormality of the endocrine system	6875	TAF4B	OMIM:615841
HP:0000818	Abnormality of the endocrine system	93426	SYCE1	OMIM:616950
HP:0000818	Abnormality of the endocrine system	201134	CEP112	OMIM:619044
HP:0000818	Abnormality of the endocrine system	7026	NR2F2	OMIM:618901
HP:0000818	Abnormality of the endocrine system	2492	FSHR	ORPHA:64739
HP:0000818	Abnormality of the endocrine system	4808	NHLH2	OMIM:619755
HP:0000818	Abnormality of the endocrine system	1201	CLN3	ORPHA:228346
HP:0000818	Abnormality of the endocrine system	23387	SIK3	OMIM:618162
HP:0000818	Abnormality of the endocrine system	79087	ALG12	ORPHA:79324
HP:0000818	Abnormality of the endocrine system	55784	MCTP2	ORPHA:1596
HP:0000818	Abnormality of the endocrine system	2642	GCGR	ORPHA:438274
HP:0000818	Abnormality of the endocrine system	3458	IFNG	ORPHA:805
HP:0000818	Abnormality of the endocrine system	7248	TSC1	ORPHA:805
HP:0000818	Abnormality of the endocrine system	7249	TSC2	ORPHA:805
HP:0000818	Abnormality of the endocrine system	1616	DAXX	ORPHA:100075
HP:0000818	Abnormality of the endocrine system	63924	CIDEC	ORPHA:435651
HP:0000818	Abnormality of the endocrine system	63924	CIDEC	OMIM:615238
HP:0000818	Abnormality of the endocrine system	3991	LIPE	ORPHA:435660
HP:0000818	Abnormality of the endocrine system	2692	GHRHR	OMIM:618157
HP:0000818	Abnormality of the endocrine system	7351	UCP2	ORPHA:276556
HP:0000818	Abnormality of the endocrine system	269	AMHR2	OMIM:261550
HP:0000818	Abnormality of the endocrine system	268	AMH	OMIM:261550
HP:0000818	Abnormality of the endocrine system	5498	PPOX	ORPHA:79473
HP:0000818	Abnormality of the endocrine system	3431	SP110	ORPHA:79124
HP:0000818	Abnormality of the endocrine system	2335	FN1	ORPHA:93315
HP:0000818	Abnormality of the endocrine system	79879	CCDC134	OMIM:619795
HP:0000818	Abnormality of the endocrine system	79048	SECISBP2	ORPHA:171706
HP:0000818	Abnormality of the endocrine system	79048	SECISBP2	OMIM:609698
HP:0000818	Abnormality of the endocrine system	100134444	KCNJ18	OMIM:613239
HP:0000818	Abnormality of the endocrine system	7068	THRB	OMIM:274300
HP:0000818	Abnormality of the endocrine system	169792	GLIS3	OMIM:610199
HP:0000818	Abnormality of the endocrine system	79053	ALG8	OMIM:608104
HP:0000818	Abnormality of the endocrine system	8239	USP9X	ORPHA:480880
HP:0000818	Abnormality of the endocrine system	54914	FOCAD	OMIM:619991
HP:0000818	Abnormality of the endocrine system	5741	PTH	OMIM:146200
HP:0000818	Abnormality of the endocrine system	1591	CYP24A1	OMIM:143880
HP:0000818	Abnormality of the endocrine system	6899	TBX1	OMIM:188400
HP:0000818	Abnormality of the endocrine system	142680	SLC34A3	ORPHA:157215
HP:0000818	Abnormality of the endocrine system	142680	SLC34A3	OMIM:241530
HP:0000818	Abnormality of the endocrine system	6905	TBCE	OMIM:241410
HP:0000818	Abnormality of the endocrine system	135	ADORA2A	ORPHA:363549
HP:0000818	Abnormality of the endocrine system	6907	TBL1X	OMIM:301033
HP:0000818	Abnormality of the endocrine system	3547	IGSF1	OMIM:300888
HP:0000818	Abnormality of the endocrine system	213	ALB	OMIM:615999
HP:0000818	Abnormality of the endocrine system	7234	TRU-TCA1-1	OMIM:620198
HP:0000818	Abnormality of the endocrine system	8567	MADD	OMIM:619004
HP:0000818	Abnormality of the endocrine system	5443	POMC	OMIM:609734
HP:0000818	Abnormality of the endocrine system	2056	EPO	OMIM:617907
HP:0000818	Abnormality of the endocrine system	1733	DIO1	OMIM:619855
HP:0000818	Abnormality of the endocrine system	2688	GH1	OMIM:612781
HP:0000818	Abnormality of the endocrine system	2688	GH1	OMIM:262400
HP:0000818	Abnormality of the endocrine system	1828	DSG1	OMIM:615508
HP:0000818	Abnormality of the endocrine system	92935	MARS2	OMIM:616430
HP:0000818	Abnormality of the endocrine system	2583	B4GALNT1	ORPHA:101006
HP:0000818	Abnormality of the endocrine system	2583	B4GALNT1	OMIM:609195
HP:0000818	Abnormality of the endocrine system	8462	KLF11	ORPHA:552
HP:0000818	Abnormality of the endocrine system	2645	GCK	ORPHA:552
HP:0000818	Abnormality of the endocrine system	26060	APPL1	ORPHA:552
HP:0000818	Abnormality of the endocrine system	640	BLK	ORPHA:552
HP:0000818	Abnormality of the endocrine system	1056	CEL	ORPHA:552
HP:0000818	Abnormality of the endocrine system	4760	NEUROD1	ORPHA:552
HP:0000818	Abnormality of the endocrine system	3651	PDX1	ORPHA:552
HP:0000818	Abnormality of the endocrine system	6833	ABCC8	ORPHA:552
HP:0000818	Abnormality of the endocrine system	5078	PAX4	ORPHA:552
HP:0000818	Abnormality of the endocrine system	3172	HNF4A	ORPHA:552
HP:0000818	Abnormality of the endocrine system	6927	HNF1A	ORPHA:552
HP:0000818	Abnormality of the endocrine system	3630	INS	ORPHA:552
HP:0000818	Abnormality of the endocrine system	6524	SLC5A2	ORPHA:69076
HP:0000818	Abnormality of the endocrine system	208	AKT2	ORPHA:293964
HP:0000818	Abnormality of the endocrine system	4665	NAB2	ORPHA:2126
HP:0000818	Abnormality of the endocrine system	6778	STAT6	ORPHA:2126
HP:0000818	Abnormality of the endocrine system	54941	RNF125	OMIM:616260
HP:0000818	Abnormality of the endocrine system	346171	ZFP57	ORPHA:99886
HP:0000818	Abnormality of the endocrine system	57061	HYMAI	ORPHA:99886
HP:0000818	Abnormality of the endocrine system	5325	PLAGL1	ORPHA:99886
HP:0000818	Abnormality of the endocrine system	3977	LIFR	ORPHA:3206
HP:0000818	Abnormality of the endocrine system	657	BMPR1A	ORPHA:440437
HP:0000818	Abnormality of the endocrine system	6224	RPS20	ORPHA:440437
HP:0000818	Abnormality of the endocrine system	4072	EPCAM	ORPHA:144
HP:0000818	Abnormality of the endocrine system	4292	MLH1	ORPHA:144
HP:0000818	Abnormality of the endocrine system	5395	PMS2	ORPHA:144
HP:0000818	Abnormality of the endocrine system	27030	MLH3	ORPHA:144
HP:0000818	Abnormality of the endocrine system	22909	FAN1	ORPHA:144
HP:0000818	Abnormality of the endocrine system	7048	TGFBR2	ORPHA:144
HP:0000818	Abnormality of the endocrine system	2956	MSH6	ORPHA:144
HP:0000818	Abnormality of the endocrine system	5378	PMS1	ORPHA:144
HP:0000818	Abnormality of the endocrine system	4436	MSH2	ORPHA:144
HP:0000818	Abnormality of the endocrine system	2668	GDNF	ORPHA:388
HP:0000818	Abnormality of the endocrine system	1889	ECE1	ORPHA:388
HP:0000818	Abnormality of the endocrine system	6720	SREBF1	ORPHA:388
HP:0000818	Abnormality of the endocrine system	1908	EDN3	ORPHA:388
HP:0000818	Abnormality of the endocrine system	223117	SEMA3D	ORPHA:388
HP:0000818	Abnormality of the endocrine system	538	ATP7A	ORPHA:388
HP:0000818	Abnormality of the endocrine system	1910	EDNRB	ORPHA:388
HP:0000818	Abnormality of the endocrine system	10512	SEMA3C	ORPHA:388
HP:0000818	Abnormality of the endocrine system	2064	ERBB2	ORPHA:388
HP:0000818	Abnormality of the endocrine system	2065	ERBB3	ORPHA:388
HP:0000818	Abnormality of the endocrine system	4902	NRTN	ORPHA:388
HP:0000818	Abnormality of the endocrine system	54757	FAM20A	ORPHA:1031
HP:0000818	Abnormality of the endocrine system	55503	TRPV6	ORPHA:417
HP:0000818	Abnormality of the endocrine system	846	CASR	ORPHA:417
HP:0000818	Abnormality of the endocrine system	149461	CLDN19	ORPHA:2196
HP:0000818	Abnormality of the endocrine system	4952	OCRL	ORPHA:534
HP:0000818	Abnormality of the endocrine system	355	FAS	ORPHA:3261
HP:0000818	Abnormality of the endocrine system	356	FASLG	ORPHA:3261
HP:0000818	Abnormality of the endocrine system	5580	PRKCD	ORPHA:3261
HP:0000818	Abnormality of the endocrine system	843	CASP10	ORPHA:3261
HP:0000818	Abnormality of the endocrine system	10125	RASGRP1	ORPHA:3261
HP:0000818	Abnormality of the endocrine system	4791	NFKB2	ORPHA:293978
HP:0000818	Abnormality of the endocrine system	8651	SOCS1	OMIM:619375
HP:0000818	Abnormality of the endocrine system	6777	STAT5B	OMIM:618985
HP:0000818	Abnormality of the endocrine system	6023	RMRP	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	5896	RAG1	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	5897	RAG2	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	64421	DCLRE1C	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	100	ADA	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	3575	IL7R	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	3561	IL2RG	ORPHA:39041
HP:0000818	Abnormality of the endocrine system	57623	ZFAT	OMIM:608175
HP:0000818	Abnormality of the endocrine system	22861	NLRP1	OMIM:617388
HP:0000818	Abnormality of the endocrine system	2556	GABRA3	ORPHA:79102
HP:0000818	Abnormality of the endocrine system	779	CACNA1S	ORPHA:79102
HP:0000818	Abnormality of the endocrine system	6772	STAT1	ORPHA:391487
HP:0000818	Abnormality of the endocrine system	10043	TOM1	ORPHA:391487
HP:0000818	Abnormality of the endocrine system	23019	CNOT1	OMIM:618500
HP:0000818	Abnormality of the endocrine system	10068	IL18BP	OMIM:618549
HP:0000818	Abnormality of the endocrine system	6774	STAT3	OMIM:615952
HP:0000818	Abnormality of the endocrine system	2321	FLT1	ORPHA:275555
HP:0000818	Abnormality of the endocrine system	219736	STOX1	ORPHA:275555
HP:0000818	Abnormality of the endocrine system	10699	CORIN	ORPHA:275555
HP:0000818	Abnormality of the endocrine system	987	LRBA	OMIM:614700
HP:0000818	Abnormality of the endocrine system	50943	FOXP3	OMIM:304790
HP:0000818	Abnormality of the endocrine system	50943	FOXP3	ORPHA:37042
HP:0000818	Abnormality of the endocrine system	60401	EDA2R	ORPHA:181
HP:0000818	Abnormality of the endocrine system	1896	EDA	ORPHA:181
HP:0000818	Abnormality of the endocrine system	83737	ITCH	OMIM:613385
HP:0000818	Abnormality of the endocrine system	83737	ITCH	ORPHA:228426
HP:0000818	Abnormality of the endocrine system	84340	GFM2	OMIM:618397
HP:0000818	Abnormality of the endocrine system	50674	NEUROG3	ORPHA:83620
HP:0000818	Abnormality of the endocrine system	51816	ADA2	OMIM:615688
HP:0000818	Abnormality of the endocrine system	2542	SLC37A4	OMIM:619525
HP:0000818	Abnormality of the endocrine system	7086	TKT	ORPHA:488618
HP:0000818	Abnormality of the endocrine system	2859	GPR35	ORPHA:171
HP:0000818	Abnormality of the endocrine system	10507	SEMA4D	ORPHA:171
HP:0000818	Abnormality of the endocrine system	4485	MST1	ORPHA:171
HP:0000818	Abnormality of the endocrine system	6925	TCF4	ORPHA:171
HP:0000818	Abnormality of the endocrine system	1777	DNASE2	OMIM:619858
HP:0000818	Abnormality of the endocrine system	284252	KCTD1	ORPHA:2036
HP:0000818	Abnormality of the endocrine system	5297	PI4KA	ORPHA:436252
HP:0000818	Abnormality of the endocrine system	57217	TTC7A	ORPHA:436252
HP:0000818	Abnormality of the endocrine system	3117	HLA-DQA1	OMIM:212750
HP:0000818	Abnormality of the endocrine system	3119	HLA-DQB1	OMIM:212750
HP:0000818	Abnormality of the endocrine system	9570	GOSR2	OMIM:620166
HP:0000818	Abnormality of the endocrine system	1854	DUT	OMIM:620044
HP:0000818	Abnormality of the endocrine system	51311	TLR8	OMIM:301078
HP:0000818	Abnormality of the endocrine system	857	CAV1	OMIM:606721
HP:0000818	Abnormality of the endocrine system	5611	DNAJC3	OMIM:616192
HP:0000818	Abnormality of the endocrine system	375056	MIA3	OMIM:619269
HP:0000818	Abnormality of the endocrine system	9451	EIF2AK3	OMIM:226980
HP:0000818	Abnormality of the endocrine system	9051	PSTPIP1	ORPHA:69126
HP:0000818	Abnormality of the endocrine system	6688	SPI1	OMIM:619707
HP:0000818	Abnormality of the endocrine system	3559	IL2RA	OMIM:606367
HP:0000818	Abnormality of the endocrine system	3418	IDH2	ORPHA:163634
HP:0000818	Abnormality of the endocrine system	3417	IDH1	ORPHA:163634
HP:0000818	Abnormality of the endocrine system	54820	NDE1	ORPHA:2177
HP:0000818	Abnormality of the endocrine system	57192	MCOLN1	OMIM:252650
HP:0410291	Negativism	1312	COMT	OMIM:181500
HP:0410291	Negativism	23780	APOL2	OMIM:181500
HP:0410291	Negativism	267012	DAOA	OMIM:181500
HP:0410291	Negativism	3356	HTR2A	OMIM:181500
HP:0410291	Negativism	6854	SYN2	OMIM:181500
HP:0410291	Negativism	1814	DRD3	OMIM:181500
HP:0410291	Negativism	4524	MTHFR	OMIM:181500
HP:0410291	Negativism	27184	DISC2	OMIM:181500
HP:0410291	Negativism	65078	RTN4R	OMIM:181500
HP:0410291	Negativism	80832	APOL4	OMIM:181500
HP:0410291	Negativism	1116	CHI3L1	OMIM:181500
HP:0410292	Abnormal isohemagglutinin level	1380	CR2	OMIM:614699
HP:0410292	Abnormal isohemagglutinin level	9138	ARHGEF1	OMIM:618459
HP:0410292	Abnormal isohemagglutinin level	930	CD19	OMIM:613493
HP:0410292	Abnormal isohemagglutinin level	55343	SLC35C1	ORPHA:99843
HP:0410292	Abnormal isohemagglutinin level	10892	MALT1	OMIM:615468
HP:0410292	Abnormal isohemagglutinin level	5580	PRKCD	OMIM:615559
HP:0410292	Abnormal isohemagglutinin level	973	CD79A	OMIM:613501
HP:0410293	Absent isohemagglutinin level	10892	MALT1	OMIM:615468
HP:0410293	Absent isohemagglutinin level	5580	PRKCD	OMIM:615559
HP:0410293	Absent isohemagglutinin level	973	CD79A	OMIM:613501
HP:0410294	Decreased specific antibody response to protein vaccine	11151	CORO1A	OMIM:615401
HP:0410294	Decreased specific antibody response to protein vaccine	919	CD247	OMIM:610163
HP:0410294	Decreased specific antibody response to protein vaccine	10892	MALT1	OMIM:615468
HP:0410294	Decreased specific antibody response to protein vaccine	975	CD81	OMIM:613496
HP:0410294	Decreased specific antibody response to protein vaccine	57379	AICDA	OMIM:605258
HP:0410294	Decreased specific antibody response to protein vaccine	9138	ARHGEF1	OMIM:618459
HP:0410294	Decreased specific antibody response to protein vaccine	79087	ALG12	ORPHA:79324
HP:0410294	Decreased specific antibody response to protein vaccine	1503	CTPS1	OMIM:615897
HP:0410294	Decreased specific antibody response to protein vaccine	970	CD70	OMIM:618261
HP:0410294	Decreased specific antibody response to protein vaccine	8737	RIPK1	OMIM:618108
HP:0410294	Decreased specific antibody response to protein vaccine	6929	TCF3	OMIM:619824
HP:0410294	Decreased specific antibody response to protein vaccine	5966	REL	OMIM:619652
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	11151	CORO1A	OMIM:615401
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	919	CD247	OMIM:610163
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	10892	MALT1	OMIM:615468
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	975	CD81	OMIM:613496
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	57379	AICDA	OMIM:605258
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9138	ARHGEF1	OMIM:618459
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	79087	ALG12	ORPHA:79324
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	1503	CTPS1	OMIM:615897
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	970	CD70	OMIM:618261
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	8737	RIPK1	OMIM:618108
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	6929	TCF3	OMIM:619824
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	5966	REL	OMIM:619652
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	567	B2M	OMIM:241600
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	84433	CARD11	OMIM:616452
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	11151	CORO1A	OMIM:615401
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	10525	HYOU1	OMIM:233600
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	841	CASP8	OMIM:607271
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8517	IKBKG	OMIM:301081
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	54440	SASH3	OMIM:301082
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	23495	TNFRSF13B	OMIM:240500
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	115650	TNFRSF13C	OMIM:240500
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	1380	CR2	OMIM:240500
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	29851	ICOS	OMIM:240500
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	930	CD19	OMIM:240500
HP:0000820	Abnormality of the thyroid gland	330	BIRC3	ORPHA:52417
HP:0000820	Abnormality of the thyroid gland	10892	MALT1	ORPHA:52417
HP:0000820	Abnormality of the thyroid gland	3492	IGH	ORPHA:52417
HP:0000820	Abnormality of the thyroid gland	8915	BCL10	ORPHA:52417
HP:0000820	Abnormality of the thyroid gland	3594	IL12RB1	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	23534	TNPO3	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	3592	IL12A	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	6689	SPIB	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	5450	POU2AF1	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	9966	TNFSF15	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	79258	MMEL1	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	3663	IRF5	ORPHA:186
HP:0000820	Abnormality of the thyroid gland	10736	SIX2	ORPHA:488437
HP:0000820	Abnormality of the thyroid gland	55503	TRPV6	ORPHA:417
HP:0000820	Abnormality of the thyroid gland	846	CASR	ORPHA:417
HP:0000820	Abnormality of the thyroid gland	83483	PLVAP	OMIM:618183
HP:0000820	Abnormality of the thyroid gland	7528	YY1	ORPHA:506358
HP:0000820	Abnormality of the thyroid gland	2904	GRIN2B	OMIM:613970
HP:0000820	Abnormality of the thyroid gland	84515	MCM8	OMIM:612885
HP:0000820	Abnormality of the thyroid gland	64682	ANAPC1	OMIM:618625
HP:0000820	Abnormality of the thyroid gland	64682	ANAPC1	ORPHA:221008
HP:0000820	Abnormality of the thyroid gland	7518	XRCC4	ORPHA:99812
HP:0000820	Abnormality of the thyroid gland	7518	XRCC4	OMIM:616541
HP:0000820	Abnormality of the thyroid gland	64324	NSD1	ORPHA:821
HP:0000820	Abnormality of the thyroid gland	29072	SETD2	ORPHA:821
HP:0000820	Abnormality of the thyroid gland	10297	APC2	ORPHA:821
HP:0000820	Abnormality of the thyroid gland	3190	HNRNPK	ORPHA:453504
HP:0000820	Abnormality of the thyroid gland	3190	HNRNPK	ORPHA:352665
HP:0000820	Abnormality of the thyroid gland	7018	TF	ORPHA:1195
HP:0000820	Abnormality of the thyroid gland	4141	MARS1	OMIM:615486
HP:0000820	Abnormality of the thyroid gland	2314	FLII	ORPHA:819
HP:0000820	Abnormality of the thyroid gland	23096	IQSEC2	ORPHA:819
HP:0000820	Abnormality of the thyroid gland	10743	RAI1	ORPHA:819
HP:0000820	Abnormality of the thyroid gland	10522	DEAF1	ORPHA:819
HP:0000820	Abnormality of the thyroid gland	3716	JAK1	OMIM:618999
HP:0000820	Abnormality of the thyroid gland	4038	LRP4	ORPHA:3258
HP:0000820	Abnormality of the thyroid gland	4868	NPHS1	OMIM:256300
HP:0000820	Abnormality of the thyroid gland	54	ACP5	OMIM:607944
HP:0000820	Abnormality of the thyroid gland	54	ACP5	ORPHA:1855
HP:0000820	Abnormality of the thyroid gland	23250	ATP11A	OMIM:619851
HP:0000820	Abnormality of the thyroid gland	284058	KANSL1	ORPHA:363958
HP:0000820	Abnormality of the thyroid gland	284058	KANSL1	ORPHA:363965
HP:0000820	Abnormality of the thyroid gland	55870	ASH1L	OMIM:617796
HP:0000820	Abnormality of the thyroid gland	10020	GNE	ORPHA:602
HP:0000820	Abnormality of the thyroid gland	7466	WFS1	OMIM:222300
HP:0000820	Abnormality of the thyroid gland	7466	WFS1	ORPHA:411590
HP:0000820	Abnormality of the thyroid gland	652	BMP4	OMIM:607932
HP:0000820	Abnormality of the thyroid gland	9184	BUB3	ORPHA:1052
HP:0000820	Abnormality of the thyroid gland	699	BUB1	ORPHA:1052
HP:0000820	Abnormality of the thyroid gland	9702	CEP57	ORPHA:1052
HP:0000820	Abnormality of the thyroid gland	9702	CEP57	OMIM:614114
HP:0000820	Abnormality of the thyroid gland	9319	TRIP13	ORPHA:1052
HP:0000820	Abnormality of the thyroid gland	701	BUB1B	ORPHA:1052
HP:0000820	Abnormality of the thyroid gland	51651	PTRH2	ORPHA:456312
HP:0000820	Abnormality of the thyroid gland	51651	PTRH2	OMIM:616263
HP:0000820	Abnormality of the thyroid gland	2992	GYG1	ORPHA:263297
HP:0000820	Abnormality of the thyroid gland	55148	UBR7	OMIM:619189
HP:0000820	Abnormality of the thyroid gland	5373	PMM2	OMIM:212065
HP:0000820	Abnormality of the thyroid gland	3043	HBB	ORPHA:231214
HP:0000820	Abnormality of the thyroid gland	3043	HBB	ORPHA:231222
HP:0000820	Abnormality of the thyroid gland	3043	HBB	ORPHA:231226
HP:0000820	Abnormality of the thyroid gland	388662	SLC6A17	ORPHA:457212
HP:0000820	Abnormality of the thyroid gland	8879	SGPL1	OMIM:617575
HP:0000820	Abnormality of the thyroid gland	3572	IL6ST	OMIM:619750
HP:0000820	Abnormality of the thyroid gland	1593	CYP27A1	ORPHA:909
HP:0000820	Abnormality of the thyroid gland	6774	STAT3	OMIM:615952
HP:0000820	Abnormality of the thyroid gland	6804	STX1A	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	7461	CLIP2	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	84277	DNAJC30	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	8468	FKBP6	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	5982	RFC2	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	2969	GTF2I	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	3984	LIMK1	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	9569	GTF2IRD1	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	155382	VPS37D	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	155368	METTL27	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	114049	BUD23	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	7458	EIF4H	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	84163	GTF2IRD2	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	9275	BCL7B	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	26608	TBL2	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	653361	NCF1	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	135886	TMEM270	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	51085	MLXIPL	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	51085	MLXIPL	OMIM:194050
HP:0000820	Abnormality of the thyroid gland	9031	BAZ1B	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	2006	ELN	ORPHA:904
HP:0000820	Abnormality of the thyroid gland	2006	ELN	OMIM:194050
HP:0000820	Abnormality of the thyroid gland	54440	SASH3	OMIM:301082
HP:0000820	Abnormality of the thyroid gland	5590	PRKCZ	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	2563	GABRD	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	23013	SPEN	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	8510	MMP23B	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	7798	LUZP1	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	6497	SKI	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	10630	PDPN	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	3339	HSPG2	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	10277	UBE4B	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	8514	KCNAB2	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	473	RERE	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	63976	PRDM16	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	54897	CASZ1	ORPHA:1606
HP:0000820	Abnormality of the thyroid gland	6329	SCN4A	ORPHA:99736
HP:0000820	Abnormality of the thyroid gland	80067	DCAF17	ORPHA:3464
HP:0000820	Abnormality of the thyroid gland	128674	PROKR2	ORPHA:95496
HP:0000820	Abnormality of the thyroid gland	55717	WDR11	ORPHA:95496
HP:0000820	Abnormality of the thyroid gland	6091	ROBO1	ORPHA:95496
HP:0000820	Abnormality of the thyroid gland	23432	GPR161	ORPHA:95496
HP:0000820	Abnormality of the thyroid gland	2517	FUCA1	ORPHA:349
HP:0000820	Abnormality of the thyroid gland	55719	SLF2	OMIM:620184
HP:0000820	Abnormality of the thyroid gland	26137	ZBTB20	OMIM:259050
HP:0000820	Abnormality of the thyroid gland	27086	FOXP1	ORPHA:391372
HP:0000820	Abnormality of the thyroid gland	5205	ATP8B1	ORPHA:69665
HP:0000820	Abnormality of the thyroid gland	8647	ABCB11	ORPHA:69665
HP:0000820	Abnormality of the thyroid gland	5244	ABCB4	ORPHA:69665
HP:0000820	Abnormality of the thyroid gland	9971	NR1H4	ORPHA:69665
HP:0000820	Abnormality of the thyroid gland	6288	SAA1	ORPHA:85445
HP:0000820	Abnormality of the thyroid gland	3481	IGF2	ORPHA:397590
HP:0000820	Abnormality of the thyroid gland	1028	CDKN1C	ORPHA:397590
HP:0000820	Abnormality of the thyroid gland	5324	PLAG1	ORPHA:397590
HP:0000820	Abnormality of the thyroid gland	8091	HMGA2	ORPHA:397590
HP:0000820	Abnormality of the thyroid gland	84634	KISS1R	OMIM:176400
HP:0000820	Abnormality of the thyroid gland	64135	IFIH1	OMIM:615846
HP:0000820	Abnormality of the thyroid gland	64135	IFIH1	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	7248	TSC1	OMIM:191100
HP:0000820	Abnormality of the thyroid gland	111	ADCY5	OMIM:619647
HP:0000820	Abnormality of the thyroid gland	84919	PPP1R15B	OMIM:616817
HP:0000820	Abnormality of the thyroid gland	84919	PPP1R15B	ORPHA:391408
HP:0000820	Abnormality of the thyroid gland	7841	MOGS	ORPHA:79330
HP:0000820	Abnormality of the thyroid gland	3662	IRF4	ORPHA:3452
HP:0000820	Abnormality of the thyroid gland	2683	B4GALT1	ORPHA:79332
HP:0000820	Abnormality of the thyroid gland	4351	MPI	ORPHA:79319
HP:0000820	Abnormality of the thyroid gland	775	CACNA1C	OMIM:601005
HP:0000820	Abnormality of the thyroid gland	326	AIRE	OMIM:240300
HP:0000820	Abnormality of the thyroid gland	85365	ALG2	OMIM:607906
HP:0000820	Abnormality of the thyroid gland	5286	PIK3C2A	OMIM:618440
HP:0000820	Abnormality of the thyroid gland	10661	KLF1	OMIM:613673
HP:0000820	Abnormality of the thyroid gland	654	BMP6	ORPHA:465508
HP:0000820	Abnormality of the thyroid gland	3077	HFE	ORPHA:465508
HP:0000820	Abnormality of the thyroid gland	374969	SVBP	OMIM:618569
HP:0000820	Abnormality of the thyroid gland	3242	HPD	ORPHA:2118
HP:0000820	Abnormality of the thyroid gland	1642	DDB1	OMIM:619426
HP:0000820	Abnormality of the thyroid gland	10535	RNASEH2A	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	84153	RNASEH2C	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	25939	SAMHD1	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	79621	RNASEH2B	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	103	ADAR	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	11277	TREX1	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	11277	TREX1	OMIM:225750
HP:0000820	Abnormality of the thyroid gland	100147744	RNU7-1	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	100147744	RNU7-1	OMIM:619487
HP:0000820	Abnormality of the thyroid gland	134353	LSM11	ORPHA:51
HP:0000820	Abnormality of the thyroid gland	4558	MT-TF	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4572	MT-TQ	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4512	MT-CO1	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4513	MT-CO2	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4514	MT-CO3	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4578	MT-TW	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4540	MT-ND5	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4541	MT-ND6	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4535	MT-ND1	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4538	MT-ND4	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4567	MT-TL1	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4567	MT-TL1	ORPHA:663
HP:0000820	Abnormality of the thyroid gland	4574	MT-TS1	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4574	MT-TS1	ORPHA:663
HP:0000820	Abnormality of the thyroid gland	4575	MT-TS2	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	4564	MT-TH	ORPHA:550
HP:0000820	Abnormality of the thyroid gland	1859	DYRK1A	ORPHA:268261
HP:0000820	Abnormality of the thyroid gland	9780	PIEZO1	OMIM:616843
HP:0000820	Abnormality of the thyroid gland	10785	WDR4	OMIM:618347
HP:0000820	Abnormality of the thyroid gland	81570	CLPB	ORPHA:445038
HP:0000820	Abnormality of the thyroid gland	2258	FGF13	OMIM:301058
HP:0000820	Abnormality of the thyroid gland	27125	AFF4	ORPHA:444077
HP:0000820	Abnormality of the thyroid gland	4568	MT-TL2	ORPHA:663
HP:0000820	Abnormality of the thyroid gland	4570	MT-TN	ORPHA:663
HP:0000820	Abnormality of the thyroid gland	6299	SALL1	OMIM:107480
HP:0000820	Abnormality of the thyroid gland	6299	SALL1	ORPHA:857
HP:0000820	Abnormality of the thyroid gland	2623	GATA1	OMIM:190685
HP:0000820	Abnormality of the thyroid gland	29998	BICRA	OMIM:619325
HP:0000820	Abnormality of the thyroid gland	113179	ADAT3	ORPHA:363528
HP:0000820	Abnormality of the thyroid gland	3547	IGSF1	OMIM:300888
HP:0000820	Abnormality of the thyroid gland	55215	FANCI	OMIM:609053
HP:0000820	Abnormality of the thyroid gland	348	APOE	ORPHA:412
HP:0000820	Abnormality of the thyroid gland	3767	KCNJ11	ORPHA:99886
HP:0000820	Abnormality of the thyroid gland	346171	ZFP57	ORPHA:99886
HP:0000820	Abnormality of the thyroid gland	57061	HYMAI	ORPHA:99886
HP:0000820	Abnormality of the thyroid gland	6833	ABCC8	ORPHA:99886
HP:0000820	Abnormality of the thyroid gland	5325	PLAGL1	ORPHA:99886
HP:0000820	Abnormality of the thyroid gland	10059	DNM1L	ORPHA:98673
HP:0000820	Abnormality of the thyroid gland	4976	OPA1	ORPHA:98673
HP:0000820	Abnormality of the thyroid gland	2530	FUT8	OMIM:618005
HP:0000820	Abnormality of the thyroid gland	55240	STEAP3	ORPHA:300298
HP:0000820	Abnormality of the thyroid gland	708	C1QBP	OMIM:617713
HP:0000820	Abnormality of the thyroid gland	2917	GRM7	OMIM:618922
HP:0000820	Abnormality of the thyroid gland	4547	MTTP	ORPHA:14
HP:0000820	Abnormality of the thyroid gland	112812	FDX2	OMIM:251900
HP:0000820	Abnormality of the thyroid gland	3293	HSD17B3	OMIM:264300
HP:0000820	Abnormality of the thyroid gland	3293	HSD17B3	ORPHA:752
HP:0000820	Abnormality of the thyroid gland	128989	TANGO2	OMIM:616878
HP:0000820	Abnormality of the thyroid gland	55186	SLC25A36	OMIM:620211
HP:0000820	Abnormality of the thyroid gland	7074	TIAM1	OMIM:619908
HP:0000820	Abnormality of the thyroid gland	9757	KMT2B	ORPHA:589618
HP:0000820	Abnormality of the thyroid gland	84265	POLR3GL	OMIM:619234
HP:0000820	Abnormality of the thyroid gland	57003	CCDC47	OMIM:618268
HP:0000820	Abnormality of the thyroid gland	10526	IPO8	OMIM:619472
HP:0000820	Abnormality of the thyroid gland	2643	GCH1	ORPHA:98808
HP:0000820	Abnormality of the thyroid gland	4929	NR4A2	ORPHA:98808
HP:0000820	Abnormality of the thyroid gland	3615	IMPDH2	ORPHA:98808
HP:0000820	Abnormality of the thyroid gland	7249	TSC2	OMIM:613254
HP:0000820	Abnormality of the thyroid gland	3458	IFNG	OMIM:613254
HP:0000820	Abnormality of the thyroid gland	6928	HNF1B	ORPHA:93111
HP:0000820	Abnormality of the thyroid gland	8405	SPOP	OMIM:618829
HP:0000820	Abnormality of the thyroid gland	2132	EXT2	ORPHA:52022
HP:0000820	Abnormality of the thyroid gland	60529	ALX4	ORPHA:52022
HP:0000820	Abnormality of the thyroid gland	51317	PHF21A	ORPHA:52022
HP:0000820	Abnormality of the thyroid gland	54880	BCOR	OMIM:300166
HP:0000820	Abnormality of the thyroid gland	2890	GRIA1	OMIM:619927
HP:0000820	Abnormality of the thyroid gland	51339	DACT1	ORPHA:857
HP:0000820	Abnormality of the thyroid gland	93587	TRMT10A	ORPHA:391408
HP:0000820	Abnormality of the thyroid gland	2767	GNA11	ORPHA:1556
HP:0000820	Abnormality of the thyroid gland	151188	ARL6IP6	ORPHA:1556
HP:0000820	Abnormality of the thyroid gland	9759	HDAC4	OMIM:600430
HP:0000820	Abnormality of the thyroid gland	2193	FARSA	OMIM:619013
HP:0000820	Abnormality of the thyroid gland	10273	STUB1	ORPHA:412057
HP:0000820	Abnormality of the thyroid gland	4194	MDM4	OMIM:618849
HP:0000820	Abnormality of the thyroid gland	131118	DNAJC19	ORPHA:66634
HP:0000820	Abnormality of the thyroid gland	5557	PRIM1	OMIM:620005
HP:0000820	Abnormality of the thyroid gland	79644	SRD5A3	ORPHA:324737
HP:0000820	Abnormality of the thyroid gland	1604	CD55	OMIM:226300
HP:0000820	Abnormality of the thyroid gland	3735	KARS1	OMIM:619147
HP:0000820	Abnormality of the thyroid gland	23404	EXOSC2	OMIM:617763
HP:0000820	Abnormality of the thyroid gland	9652	SKIC3	ORPHA:84064
HP:0000820	Abnormality of the thyroid gland	6499	SKIC2	ORPHA:84064
HP:0000820	Abnormality of the thyroid gland	6736	SRY	ORPHA:1772
HP:0000820	Abnormality of the thyroid gland	5167	ENPP1	ORPHA:758
HP:0000820	Abnormality of the thyroid gland	368	ABCC6	ORPHA:758
HP:0000820	Abnormality of the thyroid gland	1497	CTNS	OMIM:219800
HP:0000820	Abnormality of the thyroid gland	1650	DDOST	ORPHA:300536
HP:0000820	Abnormality of the thyroid gland	197131	UBR1	OMIM:243800
HP:0000820	Abnormality of the thyroid gland	291	SLC25A4	ORPHA:254892
HP:0000820	Abnormality of the thyroid gland	5428	POLG	ORPHA:254892
HP:0000820	Abnormality of the thyroid gland	56652	TWNK	ORPHA:254892
HP:0000820	Abnormality of the thyroid gland	11232	POLG2	ORPHA:254892
HP:0000820	Abnormality of the thyroid gland	50484	RRM2B	ORPHA:254892
HP:0000820	Abnormality of the thyroid gland	2332	FMR1	ORPHA:449291
HP:0000820	Abnormality of the thyroid gland	55154	MSTO1	OMIM:617675
HP:0000820	Abnormality of the thyroid gland	55154	MSTO1	ORPHA:502423
HP:0000820	Abnormality of the thyroid gland	2778	GNAS	OMIM:174800
HP:0000820	Abnormality of the thyroid gland	2778	GNAS	ORPHA:562
HP:0000820	Abnormality of the thyroid gland	50943	FOXP3	ORPHA:37042
HP:0000820	Abnormality of the thyroid gland	3759	KCNJ2	OMIM:170390
HP:0000820	Abnormality of the thyroid gland	2556	GABRA3	ORPHA:79102
HP:0000820	Abnormality of the thyroid gland	779	CACNA1S	ORPHA:79102
HP:0000820	Abnormality of the thyroid gland	779	CACNA1S	OMIM:188580
HP:0000820	Abnormality of the thyroid gland	1312	COMT	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	221037	JMJD1C	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	2812	GP1BB	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	6239	RREB1	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	6899	TBX1	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	7290	HIRA	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	9632	SEC24C	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	7353	UFD1	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	421	ARVCF	ORPHA:567
HP:0000820	Abnormality of the thyroid gland	79783	SUGCT	OMIM:231690
HP:0000820	Abnormality of the thyroid gland	5728	PTEN	OMIM:158350
HP:0000820	Abnormality of the thyroid gland	93627	TBCK	ORPHA:488632
HP:0000820	Abnormality of the thyroid gland	5290	PIK3CA	OMIM:615108
HP:0000820	Abnormality of the thyroid gland	207	AKT1	OMIM:615109
HP:0000820	Abnormality of the thyroid gland	9817	KEAP1	ORPHA:276399
HP:0000820	Abnormality of the thyroid gland	11128	POLR3A	ORPHA:3455
HP:0000820	Abnormality of the thyroid gland	56244	BTNL2	ORPHA:797
HP:0000820	Abnormality of the thyroid gland	3123	HLA-DRB1	ORPHA:797
HP:0000820	Abnormality of the thyroid gland	2627	GATA6	ORPHA:2255
HP:0000820	Abnormality of the thyroid gland	145173	B3GLCT	ORPHA:709
HP:0000820	Abnormality of the thyroid gland	4796	TONSL	OMIM:271510
HP:0000820	Abnormality of the thyroid gland	526	ATP6V1B2	ORPHA:79500
HP:0000820	Abnormality of the thyroid gland	57465	TBC1D24	ORPHA:79500
HP:0000820	Abnormality of the thyroid gland	5573	PRKAR1A	ORPHA:280651
HP:0000820	Abnormality of the thyroid gland	5573	PRKAR1A	OMIM:101800
HP:0000820	Abnormality of the thyroid gland	5144	PDE4D	ORPHA:280651
HP:0000820	Abnormality of the thyroid gland	5144	PDE4D	OMIM:614613
HP:0000820	Abnormality of the thyroid gland	56246	MRAP	ORPHA:361
HP:0000820	Abnormality of the thyroid gland	6770	STAR	ORPHA:361
HP:0000820	Abnormality of the thyroid gland	4158	MC2R	ORPHA:361
HP:0000820	Abnormality of the thyroid gland	23530	NNT	ORPHA:361
HP:0000820	Abnormality of the thyroid gland	23530	NNT	OMIM:614736
HP:0000820	Abnormality of the thyroid gland	10587	TXNRD2	ORPHA:361
HP:0000820	Abnormality of the thyroid gland	83696	TRAPPC9	ORPHA:352530
HP:0000820	Abnormality of the thyroid gland	2782	GNB1	OMIM:616973
HP:0000820	Abnormality of the thyroid gland	9373	PLAA	OMIM:617527
HP:0000820	Abnormality of the thyroid gland	79693	YRDC	OMIM:619609
HP:0000820	Abnormality of the thyroid gland	7403	KDM6A	OMIM:147920
HP:0000820	Abnormality of the thyroid gland	55213	RCBTB1	OMIM:617175
HP:0000820	Abnormality of the thyroid gland	25981	DNAH1	OMIM:617577
HP:0000820	Abnormality of the thyroid gland	3766	KCNJ10	ORPHA:705
HP:0000820	Abnormality of the thyroid gland	3766	KCNJ10	OMIM:600791
HP:0000820	Abnormality of the thyroid gland	3766	KCNJ10	OMIM:274600
HP:0000820	Abnormality of the thyroid gland	2299	FOXI1	ORPHA:705
HP:0000820	Abnormality of the thyroid gland	2299	FOXI1	OMIM:600791
HP:0000820	Abnormality of the thyroid gland	2299	FOXI1	OMIM:274600
HP:0000820	Abnormality of the thyroid gland	1026	CDKN1A	ORPHA:652
HP:0000820	Abnormality of the thyroid gland	1030	CDKN2B	ORPHA:652
HP:0000820	Abnormality of the thyroid gland	1031	CDKN2C	ORPHA:652
HP:0000820	Abnormality of the thyroid gland	3418	IDH2	ORPHA:163634
HP:0000820	Abnormality of the thyroid gland	3417	IDH1	ORPHA:163634
HP:0000820	Abnormality of the thyroid gland	4437	MSH3	ORPHA:480536
HP:0000820	Abnormality of the thyroid gland	4437	MSH3	OMIM:617100
HP:0000820	Abnormality of the thyroid gland	6909	TBX2	OMIM:618223
HP:0000820	Abnormality of the thyroid gland	10068	IL18BP	OMIM:618549
HP:0000820	Abnormality of the thyroid gland	5297	PI4KA	ORPHA:436252
HP:0000820	Abnormality of the thyroid gland	57217	TTC7A	ORPHA:436252
HP:0000820	Abnormality of the thyroid gland	5336	PLCG2	OMIM:614468
HP:0000820	Abnormality of the thyroid gland	1493	CTLA4	OMIM:140300
HP:0000820	Abnormality of the thyroid gland	27022	FOXD3	OMIM:607836
HP:0000820	Abnormality of the thyroid gland	716	C1S	OMIM:613783
HP:0000820	Abnormality of the thyroid gland	51816	ADA2	OMIM:615688
HP:0000820	Abnormality of the thyroid gland	10483	SEC23B	OMIM:616858
HP:0000820	Abnormality of the thyroid gland	1027	CDKN1B	OMIM:610755
HP:0000820	Abnormality of the thyroid gland	201163	FLCN	ORPHA:122
HP:0000820	Abnormality of the thyroid gland	26585	GREM1	ORPHA:157794
HP:0000820	Abnormality of the thyroid gland	7486	WRN	ORPHA:902
HP:0000820	Abnormality of the thyroid gland	7157	TP53	ORPHA:524
HP:0000820	Abnormality of the thyroid gland	1029	CDKN2A	ORPHA:524
HP:0000820	Abnormality of the thyroid gland	4193	MDM2	ORPHA:524
HP:0000820	Abnormality of the thyroid gland	11200	CHEK2	ORPHA:524
HP:0000820	Abnormality of the thyroid gland	6597	SMARCA4	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	6659	SOX4	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	8289	ARID1A	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	5977	DPF2	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	6601	SMARCC2	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	6602	SMARCD1	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	57492	ARID1B	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	196528	ARID2	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	6664	SOX11	ORPHA:1465
HP:0000820	Abnormality of the thyroid gland	182	JAG1	OMIM:118450
HP:0000820	Abnormality of the thyroid gland	50485	SMARCAL1	ORPHA:1830
HP:0000820	Abnormality of the thyroid gland	2626	GATA4	OMIM:615542
HP:0000820	Abnormality of the thyroid gland	6567	SLC16A2	ORPHA:59
HP:0000820	Abnormality of the thyroid gland	7067	THRA	OMIM:614450
HP:0000820	Abnormality of the thyroid gland	23328	SASH1	OMIM:618373
HP:0000820	Abnormality of the thyroid gland	8471	IRS4	OMIM:301035
HP:0000820	Abnormality of the thyroid gland	84172	POLR1B	ORPHA:861
HP:0000820	Abnormality of the thyroid gland	9533	POLR1C	ORPHA:861
HP:0000820	Abnormality of the thyroid gland	51082	POLR1D	ORPHA:861
HP:0000820	Abnormality of the thyroid gland	6949	TCOF1	ORPHA:861
HP:0000820	Abnormality of the thyroid gland	50814	NSDHL	OMIM:308050
HP:0000820	Abnormality of the thyroid gland	92949	ADAMTSL1	ORPHA:521445
HP:0000820	Abnormality of the thyroid gland	2783	GNB2	OMIM:619503
HP:0000820	Abnormality of the thyroid gland	23522	KAT6B	ORPHA:3047
HP:0000820	Abnormality of the thyroid gland	8085	KMT2D	OMIM:620186
HP:0000820	Abnormality of the thyroid gland	5172	SLC26A4	ORPHA:95720
HP:0000820	Abnormality of the thyroid gland	4313	MMP2	ORPHA:371428
HP:0000820	Abnormality of the thyroid gland	4323	MMP14	ORPHA:371428
HP:0000820	Abnormality of the thyroid gland	2304	FOXE1	ORPHA:319487
HP:0000820	Abnormality of the thyroid gland	3026	HABP2	ORPHA:319487
HP:0000820	Abnormality of the thyroid gland	9562	MINPP1	ORPHA:319487
HP:0000820	Abnormality of the thyroid gland	50940	PDE11A	ORPHA:1359
HP:0000820	Abnormality of the thyroid gland	79577	CDC73	OMIM:145001
HP:0000820	Abnormality of the thyroid gland	147372	CCBE1	OMIM:235510
HP:0000820	Abnormality of the thyroid gland	7200	TRH	OMIM:275120
HP:0000820	Abnormality of the thyroid gland	2737	GLI3	ORPHA:672
HP:0000820	Abnormality of the thyroid gland	55131	RBM28	ORPHA:157954
HP:0000820	Abnormality of the thyroid gland	5122	PCSK1	ORPHA:71528
HP:0000820	Abnormality of the thyroid gland	3953	LEPR	OMIM:614963
HP:0000820	Abnormality of the thyroid gland	3953	LEPR	ORPHA:179494
HP:0000820	Abnormality of the thyroid gland	8314	BAP1	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	4771	NF2	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	6598	SMARCB1	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	5155	PDGFB	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	84231	TRAF7	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	6608	SMO	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	7015	TERT	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	51684	SUFU	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	6605	SMARCE1	ORPHA:2495
HP:0000820	Abnormality of the thyroid gland	5443	POMC	ORPHA:71526
HP:0000820	Abnormality of the thyroid gland	91147	TMEM67	OMIM:602152
HP:0000820	Abnormality of the thyroid gland	2736	GLI2	ORPHA:95494
HP:0000820	Abnormality of the thyroid gland	3170	FOXA2	ORPHA:95494
HP:0000820	Abnormality of the thyroid gland	5015	OTX2	ORPHA:95494
HP:0000820	Abnormality of the thyroid gland	283987	HID1	OMIM:619983
HP:0000820	Abnormality of the thyroid gland	4221	MEN1	ORPHA:2965
HP:0000820	Abnormality of the thyroid gland	9049	AIP	ORPHA:2965
HP:0000820	Abnormality of the thyroid gland	3952	LEP	ORPHA:66628
HP:0000820	Abnormality of the thyroid gland	9915	ARNT2	OMIM:615926
HP:0000820	Abnormality of the thyroid gland	6658	SOX3	ORPHA:90695
HP:0000820	Abnormality of the thyroid gland	5456	POU3F4	ORPHA:1435
HP:0000820	Abnormality of the thyroid gland	1499	CTNNB1	ORPHA:54595
HP:0000820	Abnormality of the thyroid gland	673	BRAF	ORPHA:54595
HP:0000820	Abnormality of the thyroid gland	213	ALB	OMIM:615999
HP:0000820	Abnormality of the thyroid gland	7276	TTR	OMIM:145680
HP:0000820	Abnormality of the thyroid gland	2138	EYA1	OMIM:113650
HP:0000820	Abnormality of the thyroid gland	6495	SIX1	OMIM:113650
HP:0000820	Abnormality of the thyroid gland	4281	MID1	ORPHA:2745
HP:0000820	Abnormality of the thyroid gland	7080	NKX2-1	ORPHA:209905
HP:0000820	Abnormality of the thyroid gland	5979	RET	OMIM:171400
HP:0000820	Abnormality of the thyroid gland	54539	NDUFB11	OMIM:300952
HP:0000820	Abnormality of the thyroid gland	64072	CDH23	ORPHA:91347
HP:0000820	Abnormality of the thyroid gland	6134	RPL10	OMIM:300998
HP:0000820	Abnormality of the thyroid gland	340533	NEXMIF	OMIM:300912
HP:0000820	Abnormality of the thyroid gland	23247	KATNIP	OMIM:616784
HP:0000820	Abnormality of the thyroid gland	23312	DMXL2	ORPHA:453533
HP:0000820	Abnormality of the thyroid gland	23312	DMXL2	OMIM:616113
HP:0000820	Abnormality of the thyroid gland	2260	FGFR1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	2260	FGFR1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	28514	DLL1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	28514	DLL1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	28514	DLL1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	28514	DLL1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	10735	STAG2	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	10735	STAG2	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	2253	FGF8	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	2253	FGF8	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	2253	FGF8	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	2253	FGF8	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	8243	SMC1A	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	6496	SIX3	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	6496	SIX3	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	6496	SIX3	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	6496	SIX3	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	7050	TGIF1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	7050	TGIF1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	7050	TGIF1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	7050	TGIF1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	4838	NODAL	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	4838	NODAL	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	4838	NODAL	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	4838	NODAL	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	6469	SHH	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	6469	SHH	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	6469	SHH	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	6469	SHH	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	7546	ZIC2	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	7546	ZIC2	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	7546	ZIC2	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	7546	ZIC2	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	6491	STIL	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	6491	STIL	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	6491	STIL	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	6491	STIL	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	2619	GAS1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	2619	GAS1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	2619	GAS1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	2619	GAS1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	84976	DISP1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	84976	DISP1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	84976	DISP1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	84976	DISP1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	8928	FOXH1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	8928	FOXH1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	8928	FOXH1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	8928	FOXH1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	5727	PTCH1	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	5727	PTCH1	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	5727	PTCH1	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	5727	PTCH1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	50937	CDON	ORPHA:220386
HP:0000820	Abnormality of the thyroid gland	50937	CDON	ORPHA:93926
HP:0000820	Abnormality of the thyroid gland	50937	CDON	ORPHA:93924
HP:0000820	Abnormality of the thyroid gland	50937	CDON	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	3643	INSR	ORPHA:508
HP:0000820	Abnormality of the thyroid gland	9451	EIF2AK3	ORPHA:1667
HP:0000820	Abnormality of the thyroid gland	51199	NIN	OMIM:614851
HP:0000820	Abnormality of the thyroid gland	6492	SIM1	ORPHA:398079
HP:0000820	Abnormality of the thyroid gland	23007	PLCH1	ORPHA:93925
HP:0000820	Abnormality of the thyroid gland	26040	SETBP1	ORPHA:798
HP:0000820	Abnormality of the thyroid gland	23405	DICER1	OMIM:180295
HP:0000820	Abnormality of the thyroid gland	324	APC	ORPHA:247806
HP:0000820	Abnormality of the thyroid gland	324	APC	ORPHA:79665
HP:0000820	Abnormality of the thyroid gland	7253	TSHR	OMIM:609152
HP:0000820	Abnormality of the thyroid gland	7253	TSHR	OMIM:603373
HP:0000820	Abnormality of the thyroid gland	79048	SECISBP2	ORPHA:171706
HP:0000820	Abnormality of the thyroid gland	79048	SECISBP2	OMIM:609698
HP:0000820	Abnormality of the thyroid gland	100134444	KCNJ18	OMIM:613239
HP:0000820	Abnormality of the thyroid gland	7068	THRB	OMIM:274300
HP:0000820	Abnormality of the thyroid gland	7840	ALMS1	ORPHA:64
HP:0000820	Abnormality of the thyroid gland	7849	PAX8	OMIM:218700
HP:0000820	Abnormality of the thyroid gland	6638	SNRPN	ORPHA:177904
HP:0000820	Abnormality of the thyroid gland	6638	SNRPN	ORPHA:177901
HP:0000820	Abnormality of the thyroid gland	6638	SNRPN	ORPHA:98754
HP:0000820	Abnormality of the thyroid gland	4692	NDN	ORPHA:177904
HP:0000820	Abnormality of the thyroid gland	4692	NDN	ORPHA:177901
HP:0000820	Abnormality of the thyroid gland	4692	NDN	ORPHA:98754
HP:0000820	Abnormality of the thyroid gland	54551	MAGEL2	ORPHA:177904
HP:0000820	Abnormality of the thyroid gland	54551	MAGEL2	ORPHA:177901
HP:0000820	Abnormality of the thyroid gland	54551	MAGEL2	ORPHA:98754
HP:0000820	Abnormality of the thyroid gland	4948	OCA2	ORPHA:177904
HP:0000820	Abnormality of the thyroid gland	4948	OCA2	ORPHA:177901
HP:0000820	Abnormality of the thyroid gland	4948	OCA2	ORPHA:98754
HP:0000820	Abnormality of the thyroid gland	7201	TRHR	OMIM:618573
HP:0000820	Abnormality of the thyroid gland	7201	TRHR	ORPHA:99832
HP:0000820	Abnormality of the thyroid gland	5626	PROP1	ORPHA:226307
HP:0000820	Abnormality of the thyroid gland	89884	LHX4	ORPHA:226307
HP:0000820	Abnormality of the thyroid gland	8022	LHX3	ORPHA:226307
HP:0000820	Abnormality of the thyroid gland	5449	POU1F1	ORPHA:226307
HP:0000820	Abnormality of the thyroid gland	8820	HESX1	ORPHA:226307
HP:0000820	Abnormality of the thyroid gland	405753	DUOXA2	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	6528	SLC5A5	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	7038	TG	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	7173	TPO	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	7173	TPO	OMIM:274500
HP:0000820	Abnormality of the thyroid gland	389434	IYD	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	50506	DUOX2	ORPHA:95716
HP:0000820	Abnormality of the thyroid gland	50506	DUOX2	ORPHA:226316
HP:0000820	Abnormality of the thyroid gland	169792	GLIS3	OMIM:610199
HP:0000820	Abnormality of the thyroid gland	79053	ALG8	OMIM:608104
HP:0000820	Abnormality of the thyroid gland	7252	TSHB	OMIM:275100
HP:0000820	Abnormality of the thyroid gland	7252	TSHB	ORPHA:90674
HP:0000820	Abnormality of the thyroid gland	8239	USP9X	ORPHA:480880
HP:0000820	Abnormality of the thyroid gland	54914	FOCAD	OMIM:619991
HP:0000820	Abnormality of the thyroid gland	7234	TRU-TCA1-1	OMIM:620198
HP:0000820	Abnormality of the thyroid gland	1482	NKX2-5	OMIM:225250
HP:0000820	Abnormality of the thyroid gland	8567	MADD	OMIM:619004
HP:0000820	Abnormality of the thyroid gland	1363	CPE	OMIM:619326
HP:0000820	Abnormality of the thyroid gland	6907	TBL1X	OMIM:301033
HP:0000820	Abnormality of the thyroid gland	1733	DIO1	OMIM:619855
HP:0000820	Abnormality of the thyroid gland	4893	NRAS	OMIM:188470
HP:0000820	Abnormality of the thyroid gland	57522	SRGAP1	OMIM:188470
HP:0000820	Abnormality of the thyroid gland	3265	HRAS	OMIM:188470
HP:0000820	Abnormality of the thyroid gland	3977	LIFR	ORPHA:3206
HP:0000820	Abnormality of the thyroid gland	64218	SEMA4A	ORPHA:440437
HP:0000820	Abnormality of the thyroid gland	657	BMPR1A	ORPHA:440437
HP:0000820	Abnormality of the thyroid gland	6224	RPS20	ORPHA:440437
HP:0000820	Abnormality of the thyroid gland	4072	EPCAM	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	4292	MLH1	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	5395	PMS2	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	27030	MLH3	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	22909	FAN1	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	7048	TGFBR2	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	3845	KRAS	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	2956	MSH6	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	5378	PMS1	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	4436	MSH2	ORPHA:144
HP:0000820	Abnormality of the thyroid gland	215	ABCD1	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	2668	GDNF	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	1889	ECE1	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	6720	SREBF1	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	1908	EDN3	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	223117	SEMA3D	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	538	ATP7A	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	1910	EDNRB	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	10512	SEMA3C	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	2064	ERBB2	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	2065	ERBB3	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	4902	NRTN	ORPHA:388
HP:0000820	Abnormality of the thyroid gland	6390	SDHB	ORPHA:201
HP:0000820	Abnormality of the thyroid gland	6392	SDHD	ORPHA:201
HP:0000820	Abnormality of the thyroid gland	6391	SDHC	ORPHA:201
HP:0000820	Abnormality of the thyroid gland	205717	USF3	ORPHA:201
HP:0000820	Abnormality of the thyroid gland	100144748	KLLN	ORPHA:201
HP:0000820	Abnormality of the thyroid gland	4000	LMNA	ORPHA:79474
HP:0000820	Abnormality of the thyroid gland	355	FAS	ORPHA:3261
HP:0000820	Abnormality of the thyroid gland	356	FASLG	ORPHA:3261
HP:0000820	Abnormality of the thyroid gland	5580	PRKCD	ORPHA:3261
HP:0000820	Abnormality of the thyroid gland	843	CASP10	ORPHA:3261
HP:0000820	Abnormality of the thyroid gland	10125	RASGRP1	ORPHA:3261
HP:0000820	Abnormality of the thyroid gland	6772	STAT1	ORPHA:391487
HP:0000820	Abnormality of the thyroid gland	10043	TOM1	ORPHA:391487
HP:0000820	Abnormality of the thyroid gland	4791	NFKB2	ORPHA:293978
HP:0000820	Abnormality of the thyroid gland	2859	GPR35	ORPHA:171
HP:0000820	Abnormality of the thyroid gland	10507	SEMA4D	ORPHA:171
HP:0000820	Abnormality of the thyroid gland	4485	MST1	ORPHA:171
HP:0000820	Abnormality of the thyroid gland	6925	TCF4	ORPHA:171
HP:0000820	Abnormality of the thyroid gland	8651	SOCS1	OMIM:619375
HP:0000820	Abnormality of the thyroid gland	6777	STAT5B	OMIM:618985
HP:0000820	Abnormality of the thyroid gland	987	LRBA	OMIM:614700
HP:0000820	Abnormality of the thyroid gland	3117	HLA-DQA1	OMIM:212750
HP:0000820	Abnormality of the thyroid gland	3119	HLA-DQB1	OMIM:212750
HP:0000820	Abnormality of the thyroid gland	6023	RMRP	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	55636	CHD7	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	3981	LIG4	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	5896	RAG1	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	5897	RAG2	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	64421	DCLRE1C	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	100	ADA	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	3575	IL7R	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	3561	IL2RG	ORPHA:39041
HP:0000820	Abnormality of the thyroid gland	83737	ITCH	ORPHA:228426
HP:0000820	Abnormality of the thyroid gland	57623	ZFAT	OMIM:608175
HP:0000820	Abnormality of the thyroid gland	22861	NLRP1	OMIM:617388
HP:0000820	Abnormality of the thyroid gland	3559	IL2RA	OMIM:606367
HP:0000820	Abnormality of the thyroid gland	2542	SLC37A4	ORPHA:79259
HP:0000820	Abnormality of the thyroid gland	1188	CLCNKB	ORPHA:358
HP:0000820	Abnormality of the thyroid gland	6559	SLC12A3	ORPHA:358
HP:0000825	Hyperinsulinemic hypoglycemia	3767	KCNJ11	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	3767	KCNJ11	ORPHA:276580
HP:0000825	Hyperinsulinemic hypoglycemia	3767	KCNJ11	OMIM:601820
HP:0000825	Hyperinsulinemic hypoglycemia	3767	KCNJ11	ORPHA:79644
HP:0000825	Hyperinsulinemic hypoglycemia	8462	KLF11	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	2645	GCK	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	2645	GCK	OMIM:602485
HP:0000825	Hyperinsulinemic hypoglycemia	2645	GCK	ORPHA:79299
HP:0000825	Hyperinsulinemic hypoglycemia	26060	APPL1	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	640	BLK	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	1056	CEL	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	4760	NEUROD1	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	3651	PDX1	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	6833	ABCC8	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	6833	ABCC8	OMIM:256450
HP:0000825	Hyperinsulinemic hypoglycemia	6833	ABCC8	OMIM:240800
HP:0000825	Hyperinsulinemic hypoglycemia	6833	ABCC8	ORPHA:276575
HP:0000825	Hyperinsulinemic hypoglycemia	5078	PAX4	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	3172	HNF4A	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	3172	HNF4A	ORPHA:263455
HP:0000825	Hyperinsulinemic hypoglycemia	6927	HNF1A	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0000825	Hyperinsulinemic hypoglycemia	3630	INS	ORPHA:552
HP:0000825	Hyperinsulinemic hypoglycemia	4351	MPI	ORPHA:79319
HP:0000825	Hyperinsulinemic hypoglycemia	4351	MPI	OMIM:602579
HP:0000825	Hyperinsulinemic hypoglycemia	2746	GLUD1	ORPHA:35878
HP:0000825	Hyperinsulinemic hypoglycemia	2746	GLUD1	OMIM:606762
HP:0000825	Hyperinsulinemic hypoglycemia	3643	INSR	OMIM:609968
HP:0000825	Hyperinsulinemic hypoglycemia	3643	INSR	ORPHA:263458
HP:0000825	Hyperinsulinemic hypoglycemia	54914	FOCAD	OMIM:619991
HP:0000825	Hyperinsulinemic hypoglycemia	6566	SLC16A1	OMIM:610021
HP:0000825	Hyperinsulinemic hypoglycemia	389692	MAFA	OMIM:147630
HP:0000825	Hyperinsulinemic hypoglycemia	4221	MEN1	ORPHA:97279
HP:0000825	Hyperinsulinemic hypoglycemia	7528	YY1	ORPHA:97279
HP:0000825	Hyperinsulinemic hypoglycemia	93587	TRMT10A	OMIM:616033
HP:0000825	Hyperinsulinemic hypoglycemia	7351	UCP2	ORPHA:276556
HP:0000825	Hyperinsulinemic hypoglycemia	3033	HADH	ORPHA:71212
HP:0000825	Hyperinsulinemic hypoglycemia	3033	HADH	OMIM:609975
HP:0000825	Hyperinsulinemic hypoglycemia	1027	CDKN1B	ORPHA:276152
HP:0000826	Precocious puberty	3265	HRAS	ORPHA:79414
HP:0000826	Precocious puberty	3265	HRAS	OMIM:163200
HP:0000826	Precocious puberty	3265	HRAS	ORPHA:2874
HP:0000826	Precocious puberty	9563	H6PD	OMIM:604931
HP:0000826	Precocious puberty	2737	GLI3	ORPHA:672
HP:0000826	Precocious puberty	2737	GLI3	OMIM:146510
HP:0000826	Precocious puberty	388015	RTL1	ORPHA:254531
HP:0000826	Precocious puberty	388015	RTL1	ORPHA:96184
HP:0000826	Precocious puberty	388015	RTL1	ORPHA:254525
HP:0000826	Precocious puberty	8788	DLK1	ORPHA:254531
HP:0000826	Precocious puberty	8788	DLK1	ORPHA:96184
HP:0000826	Precocious puberty	8788	DLK1	ORPHA:254525
HP:0000826	Precocious puberty	55384	MEG3	ORPHA:254531
HP:0000826	Precocious puberty	55384	MEG3	ORPHA:96184
HP:0000826	Precocious puberty	55384	MEG3	ORPHA:254525
HP:0000826	Precocious puberty	3643	INSR	OMIM:262190
HP:0000826	Precocious puberty	3643	INSR	OMIM:246200
HP:0000826	Precocious puberty	3643	INSR	ORPHA:769
HP:0000826	Precocious puberty	9757	KMT2B	ORPHA:589618
HP:0000826	Precocious puberty	23013	SPEN	OMIM:619312
HP:0000826	Precocious puberty	5281	PIGF	OMIM:619356
HP:0000826	Precocious puberty	8367	H4C5	OMIM:619950
HP:0000826	Precocious puberty	57061	HYMAI	ORPHA:96191
HP:0000826	Precocious puberty	5325	PLAGL1	ORPHA:96191
HP:0000826	Precocious puberty	2778	GNAS	OMIM:174800
HP:0000826	Precocious puberty	2778	GNAS	ORPHA:562
HP:0000826	Precocious puberty	2132	EXT2	OMIM:616682
HP:0000826	Precocious puberty	51604	PIGT	ORPHA:369837
HP:0000826	Precocious puberty	7249	TSC2	OMIM:613254
HP:0000826	Precocious puberty	3458	IFNG	OMIM:613254
HP:0000826	Precocious puberty	7355	SLC35A2	ORPHA:356961
HP:0000826	Precocious puberty	6804	STX1A	ORPHA:904
HP:0000826	Precocious puberty	7461	CLIP2	ORPHA:904
HP:0000826	Precocious puberty	84277	DNAJC30	ORPHA:904
HP:0000826	Precocious puberty	8468	FKBP6	ORPHA:904
HP:0000826	Precocious puberty	5982	RFC2	ORPHA:904
HP:0000826	Precocious puberty	2969	GTF2I	ORPHA:904
HP:0000826	Precocious puberty	3984	LIMK1	ORPHA:904
HP:0000826	Precocious puberty	9569	GTF2IRD1	ORPHA:904
HP:0000826	Precocious puberty	155382	VPS37D	ORPHA:904
HP:0000826	Precocious puberty	155368	METTL27	ORPHA:904
HP:0000826	Precocious puberty	114049	BUD23	ORPHA:904
HP:0000826	Precocious puberty	7458	EIF4H	ORPHA:904
HP:0000826	Precocious puberty	84163	GTF2IRD2	ORPHA:904
HP:0000826	Precocious puberty	9275	BCL7B	ORPHA:904
HP:0000826	Precocious puberty	26608	TBL2	ORPHA:904
HP:0000826	Precocious puberty	653361	NCF1	ORPHA:904
HP:0000826	Precocious puberty	135886	TMEM270	ORPHA:904
HP:0000826	Precocious puberty	51085	MLXIPL	ORPHA:904
HP:0000826	Precocious puberty	9031	BAZ1B	ORPHA:904
HP:0000826	Precocious puberty	2006	ELN	ORPHA:904
HP:0000826	Precocious puberty	116115	ZNF526	OMIM:619877
HP:0000826	Precocious puberty	10586	MAB21L2	OMIM:615877
HP:0000826	Precocious puberty	3845	KRAS	OMIM:163200
HP:0000826	Precocious puberty	4893	NRAS	OMIM:163200
HP:0000826	Precocious puberty	4796	TONSL	ORPHA:93357
HP:0000826	Precocious puberty	2908	NR3C1	ORPHA:786
HP:0000826	Precocious puberty	7681	MKRN3	OMIM:176270
HP:0000826	Precocious puberty	3653	IPW	OMIM:176270
HP:0000826	Precocious puberty	54551	MAGEL2	OMIM:176270
HP:0000826	Precocious puberty	54551	MAGEL2	ORPHA:98754
HP:0000826	Precocious puberty	54551	MAGEL2	ORPHA:177904
HP:0000826	Precocious puberty	54551	MAGEL2	ORPHA:177901
HP:0000826	Precocious puberty	54551	MAGEL2	ORPHA:398069
HP:0000826	Precocious puberty	791114	PWRN1	OMIM:176270
HP:0000826	Precocious puberty	100033413	SNORD116-1	OMIM:176270
HP:0000826	Precocious puberty	8924	HERC2	OMIM:176270
HP:0000826	Precocious puberty	145624	PWAR1	OMIM:176270
HP:0000826	Precocious puberty	23742	NPAP1	OMIM:176270
HP:0000826	Precocious puberty	338433	SNORD115-1	OMIM:176270
HP:0000826	Precocious puberty	26047	CNTNAP2	ORPHA:163681
HP:0000826	Precocious puberty	10236	HNRNPR	OMIM:620073
HP:0000826	Precocious puberty	2887	GRB10	ORPHA:96182
HP:0000826	Precocious puberty	4784	NFIX	ORPHA:447980
HP:0000826	Precocious puberty	190	NR0B1	OMIM:300200
HP:0000826	Precocious puberty	79813	EHMT1	ORPHA:261652
HP:0000826	Precocious puberty	58508	KMT2C	ORPHA:261652
HP:0000826	Precocious puberty	284058	KANSL1	ORPHA:363965
HP:0000826	Precocious puberty	284058	KANSL1	ORPHA:363958
HP:0000826	Precocious puberty	51715	RAB23	OMIM:201000
HP:0000826	Precocious puberty	80816	ASXL3	OMIM:615485
HP:0000826	Precocious puberty	23112	TNRC6B	OMIM:619243
HP:0000826	Precocious puberty	28514	DLL1	ORPHA:280195
HP:0000826	Precocious puberty	2253	FGF8	ORPHA:280195
HP:0000826	Precocious puberty	6496	SIX3	ORPHA:280195
HP:0000826	Precocious puberty	7050	TGIF1	ORPHA:280195
HP:0000826	Precocious puberty	4838	NODAL	ORPHA:280195
HP:0000826	Precocious puberty	6469	SHH	ORPHA:280195
HP:0000826	Precocious puberty	7546	ZIC2	ORPHA:280195
HP:0000826	Precocious puberty	6491	STIL	ORPHA:280195
HP:0000826	Precocious puberty	2619	GAS1	ORPHA:280195
HP:0000826	Precocious puberty	84976	DISP1	ORPHA:280195
HP:0000826	Precocious puberty	2736	GLI2	ORPHA:280195
HP:0000826	Precocious puberty	8928	FOXH1	ORPHA:280195
HP:0000826	Precocious puberty	5727	PTCH1	ORPHA:280195
HP:0000826	Precocious puberty	50937	CDON	ORPHA:280195
HP:0000826	Precocious puberty	6492	SIM1	ORPHA:398079
HP:0000826	Precocious puberty	8085	KMT2D	ORPHA:2322
HP:0000826	Precocious puberty	7403	KDM6A	ORPHA:2322
HP:0000826	Precocious puberty	23096	IQSEC2	ORPHA:217377
HP:0000826	Precocious puberty	23096	IQSEC2	ORPHA:819
HP:0000826	Precocious puberty	1654	DDX3X	OMIM:300958
HP:0000826	Precocious puberty	1654	DDX3X	ORPHA:457260
HP:0000826	Precocious puberty	2314	FLII	ORPHA:819
HP:0000826	Precocious puberty	10743	RAI1	ORPHA:819
HP:0000826	Precocious puberty	10522	DEAF1	ORPHA:819
HP:0000826	Precocious puberty	7248	TSC1	OMIM:191100
HP:0000826	Precocious puberty	10847	SRCAP	ORPHA:2044
HP:0000826	Precocious puberty	5573	PRKAR1A	ORPHA:1359
HP:0000826	Precocious puberty	50940	PDE11A	ORPHA:1359
HP:0000826	Precocious puberty	6638	SNRPN	ORPHA:98754
HP:0000826	Precocious puberty	6638	SNRPN	ORPHA:177904
HP:0000826	Precocious puberty	6638	SNRPN	ORPHA:177901
HP:0000826	Precocious puberty	4692	NDN	ORPHA:98754
HP:0000826	Precocious puberty	4692	NDN	ORPHA:177904
HP:0000826	Precocious puberty	4692	NDN	ORPHA:177901
HP:0000826	Precocious puberty	4948	OCA2	ORPHA:98754
HP:0000826	Precocious puberty	4948	OCA2	ORPHA:177904
HP:0000826	Precocious puberty	4948	OCA2	ORPHA:177901
HP:0000826	Precocious puberty	7030	TFE3	OMIM:301066
HP:0000826	Precocious puberty	5745	PTH1R	ORPHA:296
HP:0000826	Precocious puberty	3418	IDH2	ORPHA:296
HP:0000826	Precocious puberty	3417	IDH1	ORPHA:296
HP:0000826	Precocious puberty	5116	PCNT	ORPHA:2637
HP:0000826	Precocious puberty	5116	PCNT	OMIM:210720
HP:0000826	Precocious puberty	1717	DHCR7	OMIM:270400
HP:0000826	Precocious puberty	56246	MRAP	ORPHA:361
HP:0000826	Precocious puberty	6770	STAR	ORPHA:361
HP:0000826	Precocious puberty	4158	MC2R	ORPHA:361
HP:0000826	Precocious puberty	23530	NNT	ORPHA:361
HP:0000826	Precocious puberty	23530	NNT	OMIM:614736
HP:0000826	Precocious puberty	10587	TXNRD2	ORPHA:361
HP:0000826	Precocious puberty	10943	MSL3	OMIM:301032
HP:0000826	Precocious puberty	55553	SOX6	OMIM:618971
HP:0000826	Precocious puberty	375056	MIA3	OMIM:619269
HP:0000826	Precocious puberty	53834	FGFRL1	OMIM:194190
HP:0000826	Precocious puberty	1487	CTBP1	OMIM:194190
HP:0000826	Precocious puberty	3954	LETM1	OMIM:194190
HP:0000826	Precocious puberty	7468	NSD2	OMIM:194190
HP:0000826	Precocious puberty	10815	CPLX1	OMIM:194190
HP:0000826	Precocious puberty	6792	CDKL5	ORPHA:1934
HP:0000826	Precocious puberty	3736	KCNA1	ORPHA:1934
HP:0000826	Precocious puberty	9091	PIGQ	ORPHA:1934
HP:0000826	Precocious puberty	2775	GNAO1	ORPHA:1934
HP:0000826	Precocious puberty	81603	TRIM8	ORPHA:1934
HP:0000826	Precocious puberty	2902	GRIN1	ORPHA:1934
HP:0000826	Precocious puberty	79751	SLC25A22	ORPHA:1934
HP:0000826	Precocious puberty	150094	SIK1	ORPHA:1934
HP:0000826	Precocious puberty	8573	CASK	ORPHA:1934
HP:0000826	Precocious puberty	23312	DMXL2	ORPHA:1934
HP:0000826	Precocious puberty	2917	GRM7	ORPHA:1934
HP:0000826	Precocious puberty	170302	ARX	ORPHA:1934
HP:0000826	Precocious puberty	11284	PNKP	ORPHA:1934
HP:0000826	Precocious puberty	6326	SCN2A	ORPHA:1934
HP:0000826	Precocious puberty	51227	PIGP	ORPHA:1934
HP:0000826	Precocious puberty	6324	SCN1B	ORPHA:1934
HP:0000826	Precocious puberty	4761	NEUROD2	ORPHA:1934
HP:0000826	Precocious puberty	4763	NF1	ORPHA:97685
HP:0000826	Precocious puberty	158326	FREM1	OMIM:608980
HP:0000826	Precocious puberty	4000	LMNA	ORPHA:2229
HP:0000826	Precocious puberty	2313	FLI1	ORPHA:370348
HP:0000826	Precocious puberty	4089	SMAD4	ORPHA:2588
HP:0000826	Precocious puberty	3973	LHCGR	OMIM:176410
HP:0000826	Precocious puberty	1584	CYP11B1	OMIM:202010
HP:0000826	Precocious puberty	6794	STK11	OMIM:175200
HP:0000826	Precocious puberty	4041	LRP5	ORPHA:2788
HP:0000826	Precocious puberty	84634	KISS1R	OMIM:176400
HP:0000826	Precocious puberty	4313	MMP2	ORPHA:371428
HP:0000826	Precocious puberty	4323	MMP14	ORPHA:371428
HP:0000826	Precocious puberty	1387	CREBBP	OMIM:180849
HP:0000826	Precocious puberty	2033	EP300	OMIM:180849
HP:0000826	Precocious puberty	1859	DYRK1A	ORPHA:268261
HP:0000826	Precocious puberty	1984	EIF5A	OMIM:619376
HP:0000826	Precocious puberty	2890	GRIA1	OMIM:619931
HP:0000826	Precocious puberty	7840	ALMS1	ORPHA:64
HP:0000826	Precocious puberty	5468	PPARG	ORPHA:528
HP:0000826	Precocious puberty	10555	AGPAT2	ORPHA:528
HP:0000826	Precocious puberty	284119	CAVIN1	ORPHA:528
HP:0000826	Precocious puberty	26580	BSCL2	ORPHA:528
HP:0000826	Precocious puberty	2353	FOS	ORPHA:528
HP:0000826	Precocious puberty	857	CAV1	ORPHA:528
HP:0000826	Precocious puberty	1586	CYP17A1	ORPHA:90793
HP:0000826	Precocious puberty	3284	HSD3B2	OMIM:201810
HP:0000826	Precocious puberty	3290	HSD11B1	OMIM:614662
HP:0000826	Precocious puberty	128989	TANGO2	OMIM:616878
HP:0000826	Precocious puberty	4221	MEN1	ORPHA:99725
HP:0000826	Precocious puberty	9049	AIP	ORPHA:99725
HP:0000826	Precocious puberty	9060	PAPSS2	OMIM:612847
HP:0000828	Abnormality of the parathyroid gland	5728	PTEN	ORPHA:2969
HP:0000828	Abnormality of the parathyroid gland	2778	GNAS	ORPHA:2762
HP:0000828	Abnormality of the parathyroid gland	3981	LIG4	ORPHA:235
HP:0000828	Abnormality of the parathyroid gland	54888	NSUN2	ORPHA:235
HP:0000828	Abnormality of the parathyroid gland	4558	MT-TF	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4572	MT-TQ	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4512	MT-CO1	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4513	MT-CO2	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4514	MT-CO3	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4578	MT-TW	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4540	MT-ND5	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4541	MT-ND6	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4535	MT-ND1	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4538	MT-ND4	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4567	MT-TL1	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4574	MT-TS1	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4575	MT-TS2	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	4564	MT-TH	ORPHA:550
HP:0000828	Abnormality of the parathyroid gland	6909	TBX2	OMIM:618223
HP:0000828	Abnormality of the parathyroid gland	5745	PTH1R	OMIM:156400
HP:0000828	Abnormality of the parathyroid gland	326	AIRE	OMIM:240300
HP:0000828	Abnormality of the parathyroid gland	326	AIRE	ORPHA:3453
HP:0000828	Abnormality of the parathyroid gland	3043	HBB	ORPHA:231214
HP:0000828	Abnormality of the parathyroid gland	3043	HBB	ORPHA:231222
HP:0000828	Abnormality of the parathyroid gland	3043	HBB	ORPHA:231226
HP:0000828	Abnormality of the parathyroid gland	10265	IRX5	OMIM:611174
HP:0000828	Abnormality of the parathyroid gland	51604	PIGT	ORPHA:369837
HP:0000828	Abnormality of the parathyroid gland	5741	PTH	OMIM:146200
HP:0000828	Abnormality of the parathyroid gland	63901	FAM111A	OMIM:127000
HP:0000828	Abnormality of the parathyroid gland	3032	HADHB	ORPHA:746
HP:0000828	Abnormality of the parathyroid gland	3030	HADHA	ORPHA:746
HP:0000828	Abnormality of the parathyroid gland	7080	NKX2-1	ORPHA:209905
HP:0000828	Abnormality of the parathyroid gland	1312	COMT	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	221037	JMJD1C	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	2812	GP1BB	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	6239	RREB1	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	7290	HIRA	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	9632	SEC24C	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	7353	UFD1	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	421	ARVCF	ORPHA:567
HP:0000828	Abnormality of the parathyroid gland	6905	TBCE	ORPHA:496756
HP:0000828	Abnormality of the parathyroid gland	6905	TBCE	ORPHA:2323
HP:0000828	Abnormality of the parathyroid gland	9993	DGCR2	OMIM:192430
HP:0000828	Abnormality of the parathyroid gland	8220	ESS2	OMIM:192430
HP:0000828	Abnormality of the parathyroid gland	8214	DGCR6	OMIM:192430
HP:0000828	Abnormality of the parathyroid gland	54487	DGCR8	OMIM:192430
HP:0000828	Abnormality of the parathyroid gland	1287	COL4A5	OMIM:301050
HP:0000828	Abnormality of the parathyroid gland	540	ATP7B	OMIM:277900
HP:0000828	Abnormality of the parathyroid gland	6557	SLC12A1	OMIM:601678
HP:0000828	Abnormality of the parathyroid gland	7421	VDR	ORPHA:93160
HP:0000828	Abnormality of the parathyroid gland	9071	CLDN10	OMIM:617671
HP:0000828	Abnormality of the parathyroid gland	5979	RET	OMIM:171400
HP:0000828	Abnormality of the parathyroid gland	55503	TRPV6	OMIM:618188
HP:0000828	Abnormality of the parathyroid gland	72	ACTG2	ORPHA:2604
HP:0000828	Abnormality of the parathyroid gland	2591	GALNT3	OMIM:211900
HP:0000828	Abnormality of the parathyroid gland	9842	PLEKHM1	OMIM:618107
HP:0000828	Abnormality of the parathyroid gland	6522	SLC4A2	OMIM:620366
HP:0000828	Abnormality of the parathyroid gland	3766	KCNJ10	ORPHA:705
HP:0000828	Abnormality of the parathyroid gland	2299	FOXI1	ORPHA:705
HP:0000828	Abnormality of the parathyroid gland	5172	SLC26A4	ORPHA:705
HP:0000828	Abnormality of the parathyroid gland	4952	OCRL	ORPHA:534
HP:0000828	Abnormality of the parathyroid gland	5573	PRKAR1A	ORPHA:280651
HP:0000828	Abnormality of the parathyroid gland	5144	PDE4D	ORPHA:280651
HP:0000828	Abnormality of the parathyroid gland	149775	GNAS-AS1	OMIM:603233
HP:0000828	Abnormality of the parathyroid gland	8675	STX16	OMIM:603233
HP:0000828	Abnormality of the parathyroid gland	8675	STX16	ORPHA:94089
HP:0000828	Abnormality of the parathyroid gland	54496	PRMT7	OMIM:617157
HP:0000828	Abnormality of the parathyroid gland	54496	PRMT7	ORPHA:464288
HP:0000828	Abnormality of the parathyroid gland	2625	GATA3	ORPHA:2237
HP:0000828	Abnormality of the parathyroid gland	6899	TBX1	OMIM:188400
HP:0000828	Abnormality of the parathyroid gland	55636	CHD7	OMIM:214800
HP:0000828	Abnormality of the parathyroid gland	1594	CYP27B1	OMIM:264700
HP:0000828	Abnormality of the parathyroid gland	1594	CYP27B1	ORPHA:289157
HP:0000828	Abnormality of the parathyroid gland	760	CA2	ORPHA:2785
HP:0000828	Abnormality of the parathyroid gland	120227	CYP2R1	ORPHA:289157
HP:0000828	Abnormality of the parathyroid gland	201163	FLCN	ORPHA:122
HP:0000828	Abnormality of the parathyroid gland	4763	NF1	OMIM:162200
HP:0000828	Abnormality of the parathyroid gland	1188	CLCNKB	ORPHA:358
HP:0000828	Abnormality of the parathyroid gland	6559	SLC12A3	ORPHA:358
HP:0000828	Abnormality of the parathyroid gland	4221	MEN1	ORPHA:652
HP:0000828	Abnormality of the parathyroid gland	1027	CDKN1B	ORPHA:652
HP:0000828	Abnormality of the parathyroid gland	1027	CDKN1B	ORPHA:276152
HP:0000828	Abnormality of the parathyroid gland	1026	CDKN1A	ORPHA:652
HP:0000828	Abnormality of the parathyroid gland	1030	CDKN2B	ORPHA:652
HP:0000828	Abnormality of the parathyroid gland	1031	CDKN2C	ORPHA:652
HP:0000828	Abnormality of the parathyroid gland	9247	GCM2	ORPHA:2239
HP:0000828	Abnormality of the parathyroid gland	1175	AP2S1	OMIM:600740
HP:0000828	Abnormality of the parathyroid gland	79798	ARMC5	ORPHA:189427
HP:0000828	Abnormality of the parathyroid gland	2767	GNA11	OMIM:145981
HP:0000828	Abnormality of the parathyroid gland	7528	YY1	ORPHA:97279
HP:0000828	Abnormality of the parathyroid gland	846	CASR	OMIM:239200
HP:0000828	Abnormality of the parathyroid gland	3458	IFNG	ORPHA:805
HP:0000828	Abnormality of the parathyroid gland	7248	TSC1	ORPHA:805
HP:0000828	Abnormality of the parathyroid gland	7249	TSC2	ORPHA:805
HP:0000828	Abnormality of the parathyroid gland	9365	KL	OMIM:617994
HP:0000828	Abnormality of the parathyroid gland	79577	CDC73	ORPHA:143
HP:0000828	Abnormality of the parathyroid gland	79577	CDC73	ORPHA:99880
HP:0000828	Abnormality of the parathyroid gland	3418	IDH2	ORPHA:163634
HP:0000828	Abnormality of the parathyroid gland	3417	IDH1	ORPHA:163634
HP:0000830	Anterior hypopituitarism	7528	YY1	ORPHA:506358
HP:0000830	Anterior hypopituitarism	4791	NFKB2	ORPHA:293978
HP:0000830	Anterior hypopituitarism	4791	NFKB2	OMIM:615577
HP:0000830	Anterior hypopituitarism	6909	TBX2	OMIM:618223
HP:0000830	Anterior hypopituitarism	1859	DYRK1A	ORPHA:268261
HP:0000830	Anterior hypopituitarism	23394	ADNP	OMIM:615873
HP:0000830	Anterior hypopituitarism	10785	WDR4	OMIM:618347
HP:0000830	Anterior hypopituitarism	22800	RRAS2	OMIM:618624
HP:0000830	Anterior hypopituitarism	8675	STX16	ORPHA:94089
HP:0000830	Anterior hypopituitarism	8626	TP63	OMIM:604292
HP:0000830	Anterior hypopituitarism	8626	TP63	ORPHA:1896
HP:0000830	Anterior hypopituitarism	7681	MKRN3	OMIM:176270
HP:0000830	Anterior hypopituitarism	3653	IPW	OMIM:176270
HP:0000830	Anterior hypopituitarism	54551	MAGEL2	OMIM:176270
HP:0000830	Anterior hypopituitarism	54551	MAGEL2	ORPHA:177904
HP:0000830	Anterior hypopituitarism	54551	MAGEL2	ORPHA:177901
HP:0000830	Anterior hypopituitarism	54551	MAGEL2	ORPHA:98754
HP:0000830	Anterior hypopituitarism	791114	PWRN1	OMIM:176270
HP:0000830	Anterior hypopituitarism	100033413	SNORD116-1	OMIM:176270
HP:0000830	Anterior hypopituitarism	8924	HERC2	OMIM:176270
HP:0000830	Anterior hypopituitarism	145624	PWAR1	OMIM:176270
HP:0000830	Anterior hypopituitarism	23742	NPAP1	OMIM:176270
HP:0000830	Anterior hypopituitarism	338433	SNORD115-1	OMIM:176270
HP:0000830	Anterior hypopituitarism	27125	AFF4	ORPHA:444077
HP:0000830	Anterior hypopituitarism	55315	SLC29A3	OMIM:602782
HP:0000830	Anterior hypopituitarism	7707	ZNF148	OMIM:617260
HP:0000830	Anterior hypopituitarism	55159	RFWD3	OMIM:617784
HP:0000830	Anterior hypopituitarism	113179	ADAT3	ORPHA:363528
HP:0000830	Anterior hypopituitarism	113179	ADAT3	OMIM:615286
HP:0000830	Anterior hypopituitarism	55215	FANCI	OMIM:609053
HP:0000830	Anterior hypopituitarism	10908	PNPLA6	OMIM:275400
HP:0000830	Anterior hypopituitarism	2693	GHSR	OMIM:615925
HP:0000830	Anterior hypopituitarism	134218	DNAJC21	ORPHA:811
HP:0000830	Anterior hypopituitarism	79631	EFL1	ORPHA:811
HP:0000830	Anterior hypopituitarism	51119	SBDS	ORPHA:811
HP:0000830	Anterior hypopituitarism	6729	SRP54	ORPHA:811
HP:0000830	Anterior hypopituitarism	2188	FANCF	OMIM:603467
HP:0000830	Anterior hypopituitarism	6638	SNRPN	ORPHA:177904
HP:0000830	Anterior hypopituitarism	6638	SNRPN	ORPHA:177901
HP:0000830	Anterior hypopituitarism	6638	SNRPN	ORPHA:177907
HP:0000830	Anterior hypopituitarism	6638	SNRPN	ORPHA:98754
HP:0000830	Anterior hypopituitarism	4692	NDN	ORPHA:177904
HP:0000830	Anterior hypopituitarism	4692	NDN	ORPHA:177901
HP:0000830	Anterior hypopituitarism	4692	NDN	ORPHA:98754
HP:0000830	Anterior hypopituitarism	4948	OCA2	ORPHA:177904
HP:0000830	Anterior hypopituitarism	4948	OCA2	ORPHA:177901
HP:0000830	Anterior hypopituitarism	4948	OCA2	ORPHA:98754
HP:0000830	Anterior hypopituitarism	6777	STAT5B	OMIM:245590
HP:0000830	Anterior hypopituitarism	284058	KANSL1	ORPHA:363958
HP:0000830	Anterior hypopituitarism	284058	KANSL1	ORPHA:363965
HP:0000830	Anterior hypopituitarism	2688	GH1	OMIM:612781
HP:0000830	Anterior hypopituitarism	2688	GH1	OMIM:173100
HP:0000830	Anterior hypopituitarism	9581	PREPL	OMIM:616224
HP:0000830	Anterior hypopituitarism	55699	IARS2	ORPHA:436174
HP:0000830	Anterior hypopituitarism	55699	IARS2	OMIM:616007
HP:0000830	Anterior hypopituitarism	79184	BRCC3	ORPHA:280679
HP:0000830	Anterior hypopituitarism	5308	PITX2	OMIM:180500
HP:0000830	Anterior hypopituitarism	7840	ALMS1	OMIM:203800
HP:0000830	Anterior hypopituitarism	7840	ALMS1	ORPHA:64
HP:0000830	Anterior hypopituitarism	3481	IGF2	OMIM:180860
HP:0000830	Anterior hypopituitarism	157680	VPS13B	OMIM:216550
HP:0000830	Anterior hypopituitarism	25942	SIN3A	ORPHA:94065
HP:0000830	Anterior hypopituitarism	25942	SIN3A	OMIM:613406
HP:0000830	Anterior hypopituitarism	5718	PSMD12	ORPHA:529962
HP:0000830	Anterior hypopituitarism	2186	BPTF	ORPHA:529962
HP:0000830	Anterior hypopituitarism	4297	KMT2A	ORPHA:319182
HP:0000830	Anterior hypopituitarism	93627	TBCK	ORPHA:488632
HP:0000830	Anterior hypopituitarism	2783	GNB2	OMIM:619503
HP:0000830	Anterior hypopituitarism	1028	CDKN1C	OMIM:614732
HP:0000830	Anterior hypopituitarism	57187	THOC2	ORPHA:457240
HP:0000830	Anterior hypopituitarism	54	ACP5	ORPHA:1855
HP:0000830	Anterior hypopituitarism	9056	SLC7A7	ORPHA:470
HP:0000830	Anterior hypopituitarism	84265	POLR3GL	OMIM:619234
HP:0000830	Anterior hypopituitarism	9851	KIAA0753	OMIM:619476
HP:0000830	Anterior hypopituitarism	6905	TBCE	OMIM:241410
HP:0000830	Anterior hypopituitarism	80067	DCAF17	ORPHA:3464
HP:0000830	Anterior hypopituitarism	54499	TMCO1	OMIM:213980
HP:0000830	Anterior hypopituitarism	2887	GRB10	ORPHA:96182
HP:0000830	Anterior hypopituitarism	5605	MAP2K2	OMIM:615280
HP:0000830	Anterior hypopituitarism	2692	GHRHR	OMIM:618157
HP:0000830	Anterior hypopituitarism	9702	CEP57	OMIM:614114
HP:0000830	Anterior hypopituitarism	11128	POLR3A	ORPHA:3455
HP:0000830	Anterior hypopituitarism	55599	RNPC3	OMIM:618160
HP:0000830	Anterior hypopituitarism	9897	WASHC5	OMIM:220210
HP:0000830	Anterior hypopituitarism	2317	FLNB	ORPHA:1263
HP:0000830	Anterior hypopituitarism	695	BTK	OMIM:307200
HP:0000830	Anterior hypopituitarism	9526	MPDU1	ORPHA:79323
HP:0000830	Anterior hypopituitarism	5144	PDE4D	ORPHA:280651
HP:0000830	Anterior hypopituitarism	1513	CTSK	ORPHA:763
HP:0000830	Anterior hypopituitarism	79644	SRD5A3	ORPHA:324737
HP:0000830	Anterior hypopituitarism	1968	EIF2S3	OMIM:300148
HP:0000830	Anterior hypopituitarism	5426	POLE	OMIM:618336
HP:0000830	Anterior hypopituitarism	51053	GMNN	OMIM:616835
HP:0000830	Anterior hypopituitarism	6664	SOX11	OMIM:615866
HP:0000830	Anterior hypopituitarism	157570	ESCO2	OMIM:216100
HP:0000830	Anterior hypopituitarism	145173	B3GLCT	ORPHA:709
HP:0000830	Anterior hypopituitarism	29926	GMPPA	ORPHA:869
HP:0000830	Anterior hypopituitarism	60684	TRAPPC11	ORPHA:869
HP:0000830	Anterior hypopituitarism	8086	AAAS	ORPHA:869
HP:0000830	Anterior hypopituitarism	83550	GPR101	ORPHA:963
HP:0000830	Anterior hypopituitarism	652	BMP4	OMIM:607932
HP:0000830	Anterior hypopituitarism	60401	EDA2R	ORPHA:181
HP:0000830	Anterior hypopituitarism	1896	EDA	ORPHA:181
HP:0000830	Anterior hypopituitarism	4509	MT-ATP8	ORPHA:480
HP:0000830	Anterior hypopituitarism	4567	MT-TL1	ORPHA:480
HP:0000830	Anterior hypopituitarism	50484	RRM2B	ORPHA:480
HP:0000830	Anterior hypopituitarism	9723	SEMA3E	ORPHA:138
HP:0000830	Anterior hypopituitarism	10371	SEMA3A	ORPHA:478
HP:0000830	Anterior hypopituitarism	81848	SPRY4	ORPHA:478
HP:0000830	Anterior hypopituitarism	23767	FLRT3	ORPHA:478
HP:0000830	Anterior hypopituitarism	128674	PROKR2	ORPHA:478
HP:0000830	Anterior hypopituitarism	79625	NDNF	ORPHA:478
HP:0000830	Anterior hypopituitarism	389549	FEZF1	ORPHA:478
HP:0000830	Anterior hypopituitarism	1630	DCC	ORPHA:478
HP:0000830	Anterior hypopituitarism	3730	ANOS1	ORPHA:478
HP:0000830	Anterior hypopituitarism	54756	IL17RD	ORPHA:478
HP:0000830	Anterior hypopituitarism	6663	SOX10	ORPHA:478
HP:0000830	Anterior hypopituitarism	285025	CCDC141	ORPHA:478
HP:0000830	Anterior hypopituitarism	60675	PROK2	ORPHA:478
HP:0000830	Anterior hypopituitarism	1848	DUSP6	ORPHA:478
HP:0000830	Anterior hypopituitarism	6870	TACR3	ORPHA:478
HP:0000830	Anterior hypopituitarism	55717	WDR11	ORPHA:478
HP:0000830	Anterior hypopituitarism	9394	HS6ST1	ORPHA:478
HP:0000830	Anterior hypopituitarism	8822	FGF17	ORPHA:478
HP:0000830	Anterior hypopituitarism	2737	GLI3	ORPHA:672
HP:0000830	Anterior hypopituitarism	2737	GLI3	OMIM:146510
HP:0000830	Anterior hypopituitarism	2260	FGFR1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	2260	FGFR1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	2260	FGFR1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	28514	DLL1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	28514	DLL1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	28514	DLL1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	28514	DLL1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	28514	DLL1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	2253	FGF8	ORPHA:280200
HP:0000830	Anterior hypopituitarism	2253	FGF8	ORPHA:220386
HP:0000830	Anterior hypopituitarism	2253	FGF8	ORPHA:93926
HP:0000830	Anterior hypopituitarism	2253	FGF8	ORPHA:93924
HP:0000830	Anterior hypopituitarism	2253	FGF8	ORPHA:93925
HP:0000830	Anterior hypopituitarism	6496	SIX3	ORPHA:280200
HP:0000830	Anterior hypopituitarism	6496	SIX3	ORPHA:220386
HP:0000830	Anterior hypopituitarism	6496	SIX3	ORPHA:93926
HP:0000830	Anterior hypopituitarism	6496	SIX3	ORPHA:93924
HP:0000830	Anterior hypopituitarism	6496	SIX3	ORPHA:93925
HP:0000830	Anterior hypopituitarism	7050	TGIF1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	7050	TGIF1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	7050	TGIF1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	7050	TGIF1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	7050	TGIF1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	4838	NODAL	ORPHA:280200
HP:0000830	Anterior hypopituitarism	4838	NODAL	ORPHA:220386
HP:0000830	Anterior hypopituitarism	4838	NODAL	ORPHA:93926
HP:0000830	Anterior hypopituitarism	4838	NODAL	ORPHA:93924
HP:0000830	Anterior hypopituitarism	4838	NODAL	ORPHA:93925
HP:0000830	Anterior hypopituitarism	6469	SHH	ORPHA:280200
HP:0000830	Anterior hypopituitarism	6469	SHH	ORPHA:220386
HP:0000830	Anterior hypopituitarism	6469	SHH	ORPHA:93926
HP:0000830	Anterior hypopituitarism	6469	SHH	ORPHA:93924
HP:0000830	Anterior hypopituitarism	6469	SHH	ORPHA:93925
HP:0000830	Anterior hypopituitarism	51684	SUFU	ORPHA:280200
HP:0000830	Anterior hypopituitarism	7546	ZIC2	ORPHA:280200
HP:0000830	Anterior hypopituitarism	7546	ZIC2	ORPHA:220386
HP:0000830	Anterior hypopituitarism	7546	ZIC2	ORPHA:93926
HP:0000830	Anterior hypopituitarism	7546	ZIC2	ORPHA:93924
HP:0000830	Anterior hypopituitarism	7546	ZIC2	ORPHA:93925
HP:0000830	Anterior hypopituitarism	2619	GAS1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	2619	GAS1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	2619	GAS1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	2619	GAS1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	2619	GAS1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	84976	DISP1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	84976	DISP1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	84976	DISP1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	84976	DISP1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	84976	DISP1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	2736	GLI2	ORPHA:280200
HP:0000830	Anterior hypopituitarism	2736	GLI2	ORPHA:220386
HP:0000830	Anterior hypopituitarism	2736	GLI2	OMIM:610829
HP:0000830	Anterior hypopituitarism	2736	GLI2	ORPHA:93926
HP:0000830	Anterior hypopituitarism	2736	GLI2	ORPHA:93924
HP:0000830	Anterior hypopituitarism	2736	GLI2	ORPHA:93925
HP:0000830	Anterior hypopituitarism	8928	FOXH1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	8928	FOXH1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	8928	FOXH1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	8928	FOXH1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	8928	FOXH1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	5727	PTCH1	ORPHA:280200
HP:0000830	Anterior hypopituitarism	5727	PTCH1	ORPHA:220386
HP:0000830	Anterior hypopituitarism	5727	PTCH1	OMIM:610828
HP:0000830	Anterior hypopituitarism	5727	PTCH1	ORPHA:93926
HP:0000830	Anterior hypopituitarism	5727	PTCH1	ORPHA:93924
HP:0000830	Anterior hypopituitarism	5727	PTCH1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	50937	CDON	ORPHA:280200
HP:0000830	Anterior hypopituitarism	50937	CDON	ORPHA:220386
HP:0000830	Anterior hypopituitarism	50937	CDON	ORPHA:93926
HP:0000830	Anterior hypopituitarism	50937	CDON	ORPHA:93924
HP:0000830	Anterior hypopituitarism	50937	CDON	ORPHA:93925
HP:0000830	Anterior hypopituitarism	23247	KATNIP	OMIM:616784
HP:0000830	Anterior hypopituitarism	7737	RNF113A	OMIM:300953
HP:0000830	Anterior hypopituitarism	5626	PROP1	ORPHA:226307
HP:0000830	Anterior hypopituitarism	5626	PROP1	OMIM:262600
HP:0000830	Anterior hypopituitarism	89884	LHX4	ORPHA:226307
HP:0000830	Anterior hypopituitarism	8022	LHX3	ORPHA:226307
HP:0000830	Anterior hypopituitarism	5449	POU1F1	ORPHA:226307
HP:0000830	Anterior hypopituitarism	8820	HESX1	ORPHA:226307
HP:0000830	Anterior hypopituitarism	6658	SOX3	OMIM:312000
HP:0000830	Anterior hypopituitarism	6658	SOX3	OMIM:300123
HP:0000830	Anterior hypopituitarism	10735	STAG2	ORPHA:220386
HP:0000830	Anterior hypopituitarism	10735	STAG2	ORPHA:93925
HP:0000830	Anterior hypopituitarism	8243	SMC1A	ORPHA:220386
HP:0000830	Anterior hypopituitarism	6491	STIL	ORPHA:220386
HP:0000830	Anterior hypopituitarism	6491	STIL	ORPHA:93926
HP:0000830	Anterior hypopituitarism	6491	STIL	ORPHA:93924
HP:0000830	Anterior hypopituitarism	6491	STIL	ORPHA:93925
HP:0000830	Anterior hypopituitarism	2917	GRM7	OMIM:618922
HP:0000830	Anterior hypopituitarism	8567	MADD	OMIM:619004
HP:0000830	Anterior hypopituitarism	23007	PLCH1	ORPHA:93925
HP:0000830	Anterior hypopituitarism	55131	RBM28	ORPHA:157954
HP:0000830	Anterior hypopituitarism	1621	DBH	OMIM:223360
HP:0000830	Anterior hypopituitarism	3547	IGSF1	OMIM:300888
HP:0000830	Anterior hypopituitarism	2778	GNAS	ORPHA:79443
HP:0000830	Anterior hypopituitarism	2778	GNAS	ORPHA:79444
HP:0000830	Anterior hypopituitarism	7201	TRHR	ORPHA:99832
HP:0000830	Anterior hypopituitarism	2488	FSHB	ORPHA:52901
HP:0000830	Anterior hypopituitarism	5122	PCSK1	ORPHA:71528
HP:0000830	Anterior hypopituitarism	55636	CHD7	OMIM:214800
HP:0000830	Anterior hypopituitarism	7080	NKX2-1	OMIM:610978
HP:0000830	Anterior hypopituitarism	64072	CDH23	ORPHA:91347
HP:0000830	Anterior hypopituitarism	64072	CDH23	ORPHA:2965
HP:0000830	Anterior hypopituitarism	4221	MEN1	ORPHA:2965
HP:0000830	Anterior hypopituitarism	9049	AIP	ORPHA:2965
HP:0000830	Anterior hypopituitarism	8314	BAP1	ORPHA:2495
HP:0000830	Anterior hypopituitarism	4771	NF2	ORPHA:2495
HP:0000830	Anterior hypopituitarism	6598	SMARCB1	ORPHA:2495
HP:0000830	Anterior hypopituitarism	5155	PDGFB	ORPHA:2495
HP:0000830	Anterior hypopituitarism	84231	TRAF7	ORPHA:2495
HP:0000830	Anterior hypopituitarism	6608	SMO	ORPHA:2495
HP:0000830	Anterior hypopituitarism	207	AKT1	ORPHA:2495
HP:0000830	Anterior hypopituitarism	5290	PIK3CA	ORPHA:2495
HP:0000830	Anterior hypopituitarism	7015	TERT	ORPHA:2495
HP:0000830	Anterior hypopituitarism	6605	SMARCE1	ORPHA:2495
HP:0000830	Anterior hypopituitarism	3953	LEPR	OMIM:614963
HP:0000830	Anterior hypopituitarism	3953	LEPR	ORPHA:179494
HP:0000830	Anterior hypopituitarism	91147	TMEM67	OMIM:602152
HP:0000830	Anterior hypopituitarism	3170	FOXA2	ORPHA:95494
HP:0000830	Anterior hypopituitarism	5015	OTX2	ORPHA:95494
HP:0000830	Anterior hypopituitarism	283987	HID1	OMIM:619983
HP:0000830	Anterior hypopituitarism	3952	LEP	ORPHA:66628
HP:0000830	Anterior hypopituitarism	7252	TSHB	ORPHA:90674
HP:0000830	Anterior hypopituitarism	673	BRAF	ORPHA:54595
HP:0000830	Anterior hypopituitarism	5443	POMC	OMIM:609734
HP:0000830	Anterior hypopituitarism	9095	TBX19	OMIM:201400
HP:0000830	Anterior hypopituitarism	9915	ARNT2	OMIM:615926
HP:0000830	Anterior hypopituitarism	5456	POU3F4	ORPHA:1435
HP:0000830	Anterior hypopituitarism	84133	ZNRF3	ORPHA:1501
HP:0000830	Anterior hypopituitarism	7157	TP53	ORPHA:1501
HP:0000830	Anterior hypopituitarism	5573	PRKAR1A	ORPHA:1501
HP:0000830	Anterior hypopituitarism	1499	CTNNB1	ORPHA:1501
HP:0000830	Anterior hypopituitarism	1029	CDKN2A	ORPHA:1501
HP:0000830	Anterior hypopituitarism	6875	TAF4B	OMIM:615841
HP:0000830	Anterior hypopituitarism	84225	ZMYND15	OMIM:615842
HP:0000830	Anterior hypopituitarism	93953	GCNA	OMIM:301077
HP:0000831	Insulin-resistant diabetes mellitus	5295	PIK3R1	OMIM:269880
HP:0000831	Insulin-resistant diabetes mellitus	3643	INSR	OMIM:262190
HP:0000831	Insulin-resistant diabetes mellitus	3643	INSR	ORPHA:769
HP:0000831	Insulin-resistant diabetes mellitus	10269	ZMPSTE24	OMIM:608612
HP:0000831	Insulin-resistant diabetes mellitus	3991	LIPE	ORPHA:435660
HP:0000831	Insulin-resistant diabetes mellitus	5468	PPARG	ORPHA:79083
HP:0000831	Insulin-resistant diabetes mellitus	5468	PPARG	OMIM:604367
HP:0000831	Insulin-resistant diabetes mellitus	208	AKT2	ORPHA:79085
HP:0000831	Insulin-resistant diabetes mellitus	7840	ALMS1	OMIM:203800
HP:0000831	Insulin-resistant diabetes mellitus	80067	DCAF17	ORPHA:3464
HP:0000831	Insulin-resistant diabetes mellitus	10367	MICU1	ORPHA:401768
HP:0000831	Insulin-resistant diabetes mellitus	4000	LMNA	OMIM:151660
HP:0000831	Insulin-resistant diabetes mellitus	4000	LMNA	OMIM:248370
HP:0000831	Insulin-resistant diabetes mellitus	4000	LMNA	ORPHA:79474
HP:0000831	Insulin-resistant diabetes mellitus	63924	CIDEC	ORPHA:435651
HP:0000831	Insulin-resistant diabetes mellitus	3953	LEPR	ORPHA:179494
HP:0000831	Insulin-resistant diabetes mellitus	3952	LEP	ORPHA:66628
HP:0000831	Insulin-resistant diabetes mellitus	286053	NSMCE2	ORPHA:436182
HP:0000831	Insulin-resistant diabetes mellitus	7518	XRCC4	ORPHA:436182
HP:0000831	Insulin-resistant diabetes mellitus	2627	GATA6	ORPHA:2255
HP:0000831	Insulin-resistant diabetes mellitus	23019	CNOT1	ORPHA:556955
HP:0000831	Insulin-resistant diabetes mellitus	6774	STAT3	ORPHA:99885
HP:0000831	Insulin-resistant diabetes mellitus	256297	PTF1A	ORPHA:65288
HP:0000831	Insulin-resistant diabetes mellitus	9451	EIF2AK3	ORPHA:1667
HP:0000831	Insulin-resistant diabetes mellitus	5346	PLIN1	ORPHA:280356
HP:0000831	Insulin-resistant diabetes mellitus	26580	BSCL2	OMIM:269700
HP:0000831	Insulin-resistant diabetes mellitus	10555	AGPAT2	OMIM:608594
HP:0000831	Insulin-resistant diabetes mellitus	3767	KCNJ11	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	3767	KCNJ11	OMIM:610582
HP:0000831	Insulin-resistant diabetes mellitus	3767	KCNJ11	ORPHA:99886
HP:0000831	Insulin-resistant diabetes mellitus	8462	KLF11	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	2645	GCK	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	26060	APPL1	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	640	BLK	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	1056	CEL	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	4760	NEUROD1	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	3651	PDX1	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	6833	ABCC8	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0000831	Insulin-resistant diabetes mellitus	6833	ABCC8	ORPHA:99886
HP:0000831	Insulin-resistant diabetes mellitus	5078	PAX4	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	3172	HNF4A	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	6927	HNF1A	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	3630	INS	ORPHA:552
HP:0000831	Insulin-resistant diabetes mellitus	57061	HYMAI	OMIM:601410
HP:0000831	Insulin-resistant diabetes mellitus	57061	HYMAI	ORPHA:99886
HP:0000831	Insulin-resistant diabetes mellitus	346171	ZFP57	OMIM:601410
HP:0000831	Insulin-resistant diabetes mellitus	346171	ZFP57	ORPHA:99886
HP:0000831	Insulin-resistant diabetes mellitus	5325	PLAGL1	ORPHA:99886
HP:0000832	Primary hypothyroidism	1497	CTNS	OMIM:219800
HP:0000832	Primary hypothyroidism	7840	ALMS1	ORPHA:64
HP:0000832	Primary hypothyroidism	1650	DDOST	ORPHA:300536
HP:0000832	Primary hypothyroidism	197131	UBR1	OMIM:243800
HP:0000832	Primary hypothyroidism	6772	STAT1	ORPHA:391487
HP:0000832	Primary hypothyroidism	10043	TOM1	ORPHA:391487
HP:0000834	Abnormality of the adrenal glands	2099	ESR1	ORPHA:785
HP:0000834	Abnormality of the adrenal glands	84172	POLR1B	ORPHA:861
HP:0000834	Abnormality of the adrenal glands	9533	POLR1C	ORPHA:861
HP:0000834	Abnormality of the adrenal glands	51082	POLR1D	ORPHA:861
HP:0000834	Abnormality of the adrenal glands	6949	TCOF1	ORPHA:861
HP:0000834	Abnormality of the adrenal glands	54361	WNT4	ORPHA:139466
HP:0000834	Abnormality of the adrenal glands	118429	ANTXR2	ORPHA:2176
HP:0000834	Abnormality of the adrenal glands	55636	CHD7	ORPHA:138
HP:0000834	Abnormality of the adrenal glands	9723	SEMA3E	ORPHA:138
HP:0000834	Abnormality of the adrenal glands	56244	BTNL2	ORPHA:797
HP:0000834	Abnormality of the adrenal glands	3123	HLA-DRB1	ORPHA:797
HP:0000834	Abnormality of the adrenal glands	128	ADH5	OMIM:619151
HP:0000834	Abnormality of the adrenal glands	9897	WASHC5	OMIM:220210
HP:0000834	Abnormality of the adrenal glands	9897	WASHC5	ORPHA:7
HP:0000834	Abnormality of the adrenal glands	54809	SAMD9	OMIM:617053
HP:0000834	Abnormality of the adrenal glands	50814	NSDHL	OMIM:308050
HP:0000834	Abnormality of the adrenal glands	7148	TNXB	ORPHA:230839
HP:0000834	Abnormality of the adrenal glands	8425	LTBP4	OMIM:613177
HP:0000834	Abnormality of the adrenal glands	128674	PROKR2	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	89884	LHX4	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	55717	WDR11	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	6091	ROBO1	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	8820	HESX1	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	50937	CDON	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	23432	GPR161	ORPHA:95496
HP:0000834	Abnormality of the adrenal glands	10269	ZMPSTE24	OMIM:275210
HP:0000834	Abnormality of the adrenal glands	6496	SIX3	OMIM:157170
HP:0000834	Abnormality of the adrenal glands	28952	CCDC22	ORPHA:7
HP:0000834	Abnormality of the adrenal glands	190	NR0B1	OMIM:300200
HP:0000834	Abnormality of the adrenal glands	652	BMP4	OMIM:607932
HP:0000834	Abnormality of the adrenal glands	54903	MKS1	OMIM:249000
HP:0000834	Abnormality of the adrenal glands	22858	CILK1	OMIM:612651
HP:0000834	Abnormality of the adrenal glands	1028	CDKN1C	OMIM:614732
HP:0000834	Abnormality of the adrenal glands	1028	CDKN1C	ORPHA:85173
HP:0000834	Abnormality of the adrenal glands	5426	POLE	ORPHA:85173
HP:0000834	Abnormality of the adrenal glands	4524	MTHFR	ORPHA:563609
HP:0000834	Abnormality of the adrenal glands	57216	VANGL2	ORPHA:563609
HP:0000834	Abnormality of the adrenal glands	5189	PEX1	OMIM:214100
HP:0000834	Abnormality of the adrenal glands	3043	HBB	ORPHA:231214
HP:0000834	Abnormality of the adrenal glands	3043	HBB	ORPHA:231222
HP:0000834	Abnormality of the adrenal glands	3043	HBB	ORPHA:231226
HP:0000834	Abnormality of the adrenal glands	55240	STEAP3	ORPHA:300298
HP:0000834	Abnormality of the adrenal glands	8879	SGPL1	OMIM:617575
HP:0000834	Abnormality of the adrenal glands	5190	PEX6	OMIM:614863
HP:0000834	Abnormality of the adrenal glands	29926	GMPPA	OMIM:615510
HP:0000834	Abnormality of the adrenal glands	29926	GMPPA	ORPHA:869
HP:0000834	Abnormality of the adrenal glands	60684	TRAPPC11	ORPHA:869
HP:0000834	Abnormality of the adrenal glands	4173	MCM4	OMIM:609981
HP:0000834	Abnormality of the adrenal glands	7681	MKRN3	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	3653	IPW	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	791114	PWRN1	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	100033413	SNORD116-1	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	8924	HERC2	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	145624	PWAR1	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	23742	NPAP1	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	338433	SNORD115-1	OMIM:176270
HP:0000834	Abnormality of the adrenal glands	54880	BCOR	OMIM:300166
HP:0000834	Abnormality of the adrenal glands	64432	MRPS25	OMIM:619025
HP:0000834	Abnormality of the adrenal glands	5626	PROP1	OMIM:262600
HP:0000834	Abnormality of the adrenal glands	9054	NFS1	OMIM:619386
HP:0000834	Abnormality of the adrenal glands	6288	SAA1	ORPHA:85445
HP:0000834	Abnormality of the adrenal glands	5830	PEX5	OMIM:202370
HP:0000834	Abnormality of the adrenal glands	79133	NDUFAF5	OMIM:618238
HP:0000834	Abnormality of the adrenal glands	6662	SOX9	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	6845	VAMP7	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	51741	WWOX	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	4214	MAP3K1	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	2516	NR5A1	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	7490	WT1	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	58524	DMRT3	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	57647	DHX37	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	6736	SRY	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	23414	ZFPM2	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	2626	GATA4	ORPHA:251510
HP:0000834	Abnormality of the adrenal glands	1026	CDKN1A	ORPHA:652
HP:0000834	Abnormality of the adrenal glands	1030	CDKN2B	ORPHA:652
HP:0000834	Abnormality of the adrenal glands	1031	CDKN2C	ORPHA:652
HP:0000834	Abnormality of the adrenal glands	137814	NKX2-6	ORPHA:3384
HP:0000834	Abnormality of the adrenal glands	23129	PLXND1	ORPHA:3384
HP:0000834	Abnormality of the adrenal glands	6337	SCNN1A	OMIM:264350
HP:0000834	Abnormality of the adrenal glands	7809	BSND	ORPHA:89938
HP:0000834	Abnormality of the adrenal glands	7809	BSND	OMIM:602522
HP:0000834	Abnormality of the adrenal glands	1187	CLCNKA	ORPHA:89938
HP:0000834	Abnormality of the adrenal glands	1187	CLCNKA	OMIM:613090
HP:0000834	Abnormality of the adrenal glands	3766	KCNJ10	OMIM:612780
HP:0000834	Abnormality of the adrenal glands	3766	KCNJ10	ORPHA:199343
HP:0000834	Abnormality of the adrenal glands	3643	INSR	ORPHA:508
HP:0000834	Abnormality of the adrenal glands	6340	SCNN1G	OMIM:620126
HP:0000834	Abnormality of the adrenal glands	6338	SCNN1B	OMIM:620125
HP:0000834	Abnormality of the adrenal glands	84133	ZNRF3	ORPHA:1501
HP:0000834	Abnormality of the adrenal glands	7157	TP53	ORPHA:1501
HP:0000834	Abnormality of the adrenal glands	5573	PRKAR1A	ORPHA:1501
HP:0000834	Abnormality of the adrenal glands	1029	CDKN2A	ORPHA:1501
HP:0000834	Abnormality of the adrenal glands	7015	TERT	ORPHA:1501
HP:0000834	Abnormality of the adrenal glands	6557	SLC12A1	OMIM:601678
HP:0000834	Abnormality of the adrenal glands	3758	KCNJ1	OMIM:241200
HP:0000834	Abnormality of the adrenal glands	4306	NR3C2	OMIM:177735
HP:0000834	Abnormality of the adrenal glands	8912	CACNA1H	OMIM:617027
HP:0000834	Abnormality of the adrenal glands	1583	CYP11A1	OMIM:613743
HP:0000834	Abnormality of the adrenal glands	1811	SLC26A3	OMIM:214700
HP:0000834	Abnormality of the adrenal glands	3773	KCNJ16	OMIM:619406
HP:0000834	Abnormality of the adrenal glands	4952	OCRL	ORPHA:534
HP:0000834	Abnormality of the adrenal glands	3759	KCNJ2	ORPHA:37553
HP:0000834	Abnormality of the adrenal glands	84733	CBX2	OMIM:613080
HP:0000834	Abnormality of the adrenal glands	5566	PRKACA	ORPHA:189439
HP:0000834	Abnormality of the adrenal glands	8622	PDE8B	ORPHA:189439
HP:0000834	Abnormality of the adrenal glands	50940	PDE11A	ORPHA:189439
HP:0000834	Abnormality of the adrenal glands	50940	PDE11A	OMIM:610475
HP:0000834	Abnormality of the adrenal glands	50940	PDE11A	ORPHA:1359
HP:0000834	Abnormality of the adrenal glands	3767	KCNJ11	ORPHA:79644
HP:0000834	Abnormality of the adrenal glands	3350	HTR1A	OMIM:614674
HP:0000834	Abnormality of the adrenal glands	326	AIRE	OMIM:240300
HP:0000834	Abnormality of the adrenal glands	326	AIRE	ORPHA:3453
HP:0000834	Abnormality of the adrenal glands	3291	HSD11B2	OMIM:218030
HP:0000834	Abnormality of the adrenal glands	3291	HSD11B2	ORPHA:320
HP:0000834	Abnormality of the adrenal glands	2908	NR3C1	ORPHA:786
HP:0000834	Abnormality of the adrenal glands	56246	MRAP	ORPHA:361
HP:0000834	Abnormality of the adrenal glands	4158	MC2R	ORPHA:361
HP:0000834	Abnormality of the adrenal glands	23530	NNT	ORPHA:361
HP:0000834	Abnormality of the adrenal glands	10587	TXNRD2	ORPHA:361
HP:0000834	Abnormality of the adrenal glands	4193	MDM2	ORPHA:524
HP:0000834	Abnormality of the adrenal glands	11200	CHEK2	ORPHA:524
HP:0000834	Abnormality of the adrenal glands	7428	VHL	ORPHA:892
HP:0000834	Abnormality of the adrenal glands	7428	VHL	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	7428	VHL	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	595	CCND1	ORPHA:892
HP:0000834	Abnormality of the adrenal glands	1743	DLST	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	4191	MDH2	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	5979	RET	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	5979	RET	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	6389	SDHA	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	23095	KIF1B	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	2271	FH	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	8402	SLC25A11	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	54949	SDHAF2	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	55654	TMEM127	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	4763	NF1	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	6391	SDHC	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	6391	SDHC	OMIM:605373
HP:0000834	Abnormality of the adrenal glands	6392	SDHD	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	6392	SDHD	OMIM:168000
HP:0000834	Abnormality of the adrenal glands	6392	SDHD	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	6390	SDHB	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	6390	SDHB	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	6390	SDHB	OMIM:115310
HP:0000834	Abnormality of the adrenal glands	4149	MAX	ORPHA:29072
HP:0000834	Abnormality of the adrenal glands	1788	DNMT3A	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	2034	EPAS1	ORPHA:276621
HP:0000834	Abnormality of the adrenal glands	215	ABCD1	ORPHA:139396
HP:0000834	Abnormality of the adrenal glands	8314	BAP1	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	4771	NF2	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	6598	SMARCB1	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	5155	PDGFB	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	84231	TRAF7	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	6608	SMO	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	207	AKT1	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	5290	PIK3CA	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	51684	SUFU	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	6605	SMARCE1	ORPHA:2495
HP:0000834	Abnormality of the adrenal glands	55278	QRSL1	OMIM:618835
HP:0000834	Abnormality of the adrenal glands	5188	GATB	OMIM:618838
HP:0000834	Abnormality of the adrenal glands	866	SERPINA6	OMIM:611489
HP:0000834	Abnormality of the adrenal glands	283459	GATC	OMIM:618839
HP:0000834	Abnormality of the adrenal glands	2710	GK	OMIM:307030
HP:0000834	Abnormality of the adrenal glands	10984	KCNQ1OT1	OMIM:130650
HP:0000834	Abnormality of the adrenal glands	3481	IGF2	OMIM:130650
HP:0000834	Abnormality of the adrenal glands	3784	KCNQ1	OMIM:130650
HP:0000834	Abnormality of the adrenal glands	55670	PEX26	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	55670	PEX26	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5824	PEX19	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5824	PEX19	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5828	PEX2	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5828	PEX2	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	8504	PEX3	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	8504	PEX3	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	9409	PEX16	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	9409	PEX16	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	8799	PEX11B	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	8799	PEX11B	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5193	PEX12	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5193	PEX12	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5194	PEX13	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5194	PEX13	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5195	PEX14	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5195	PEX14	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	5192	PEX10	ORPHA:44
HP:0000834	Abnormality of the adrenal glands	5192	PEX10	ORPHA:912
HP:0000834	Abnormality of the adrenal glands	284058	KANSL1	ORPHA:363958
HP:0000834	Abnormality of the adrenal glands	284058	KANSL1	ORPHA:363965
HP:0000834	Abnormality of the adrenal glands	51081	MRPS7	OMIM:617872
HP:0000834	Abnormality of the adrenal glands	3295	HSD17B4	OMIM:261515
HP:0000834	Abnormality of the adrenal glands	26123	TCTN3	ORPHA:2753
HP:0000834	Abnormality of the adrenal glands	219844	HYLS1	OMIM:236680
HP:0000834	Abnormality of the adrenal glands	1589	CYP21A2	OMIM:201910
HP:0000834	Abnormality of the adrenal glands	84196	USP48	ORPHA:96253
HP:0000834	Abnormality of the adrenal glands	9101	USP8	ORPHA:96253
HP:0000834	Abnormality of the adrenal glands	546	ATRX	ORPHA:96253
HP:0000834	Abnormality of the adrenal glands	526	ATP6V1B2	ORPHA:79500
HP:0000834	Abnormality of the adrenal glands	57465	TBC1D24	ORPHA:79500
HP:0000834	Abnormality of the adrenal glands	79798	ARMC5	ORPHA:189427
HP:0000834	Abnormality of the adrenal glands	79798	ARMC5	OMIM:615954
HP:0000834	Abnormality of the adrenal glands	2778	GNAS	ORPHA:189427
HP:0000834	Abnormality of the adrenal glands	2778	GNAS	OMIM:219080
HP:0000834	Abnormality of the adrenal glands	51256	TBC1D7	OMIM:248000
HP:0000834	Abnormality of the adrenal glands	65266	WNK4	OMIM:614491
HP:0000834	Abnormality of the adrenal glands	65125	WNK1	OMIM:614492
HP:0000834	Abnormality of the adrenal glands	26249	KLHL3	OMIM:614495
HP:0000834	Abnormality of the adrenal glands	8452	CUL3	OMIM:614496
HP:0000834	Abnormality of the adrenal glands	4000	LMNA	ORPHA:1662
HP:0000834	Abnormality of the adrenal glands	6329	SCN4A	ORPHA:681
HP:0000834	Abnormality of the adrenal glands	779	CACNA1S	ORPHA:681
HP:0000834	Abnormality of the adrenal glands	10008	KCNE3	ORPHA:681
HP:0000834	Abnormality of the adrenal glands	324	APC	OMIM:175100
HP:0000834	Abnormality of the adrenal glands	324	APC	ORPHA:247806
HP:0000834	Abnormality of the adrenal glands	324	APC	ORPHA:79665
HP:0000834	Abnormality of the adrenal glands	1027	CDKN1B	ORPHA:276152
HP:0000834	Abnormality of the adrenal glands	6770	STAR	OMIM:201710
HP:0000834	Abnormality of the adrenal glands	3284	HSD3B2	ORPHA:90791
HP:0000834	Abnormality of the adrenal glands	1586	CYP17A1	ORPHA:90793
HP:0000834	Abnormality of the adrenal glands	8086	AAAS	OMIM:231550
HP:0000834	Abnormality of the adrenal glands	3988	LIPA	OMIM:278000
HP:0000834	Abnormality of the adrenal glands	3988	LIPA	ORPHA:75233
HP:0000834	Abnormality of the adrenal glands	3988	LIPA	ORPHA:75234
HP:0000834	Abnormality of the adrenal glands	5167	ENPP1	ORPHA:51608
HP:0000834	Abnormality of the adrenal glands	368	ABCC6	ORPHA:51608
HP:0000834	Abnormality of the adrenal glands	2737	GLI3	ORPHA:672
HP:0000834	Abnormality of the adrenal glands	6638	SNRPN	ORPHA:177904
HP:0000834	Abnormality of the adrenal glands	6638	SNRPN	ORPHA:177901
HP:0000834	Abnormality of the adrenal glands	6638	SNRPN	ORPHA:98754
HP:0000834	Abnormality of the adrenal glands	4692	NDN	ORPHA:177904
HP:0000834	Abnormality of the adrenal glands	4692	NDN	ORPHA:177901
HP:0000834	Abnormality of the adrenal glands	4692	NDN	ORPHA:98754
HP:0000834	Abnormality of the adrenal glands	54551	MAGEL2	ORPHA:177904
HP:0000834	Abnormality of the adrenal glands	54551	MAGEL2	ORPHA:177901
HP:0000834	Abnormality of the adrenal glands	54551	MAGEL2	ORPHA:98754
HP:0000834	Abnormality of the adrenal glands	4948	OCA2	ORPHA:177904
HP:0000834	Abnormality of the adrenal glands	4948	OCA2	ORPHA:177901
HP:0000834	Abnormality of the adrenal glands	4948	OCA2	ORPHA:98754
HP:0000834	Abnormality of the adrenal glands	64072	CDH23	ORPHA:91347
HP:0000834	Abnormality of the adrenal glands	64072	CDH23	ORPHA:2965
HP:0000834	Abnormality of the adrenal glands	4791	NFKB2	OMIM:615577
HP:0000834	Abnormality of the adrenal glands	5122	PCSK1	ORPHA:71528
HP:0000834	Abnormality of the adrenal glands	55699	IARS2	OMIM:616007
HP:0000834	Abnormality of the adrenal glands	4221	MEN1	ORPHA:2965
HP:0000834	Abnormality of the adrenal glands	9049	AIP	ORPHA:2965
HP:0000834	Abnormality of the adrenal glands	55131	RBM28	OMIM:612079
HP:0000834	Abnormality of the adrenal glands	93627	TBCK	ORPHA:488632
HP:0000834	Abnormality of the adrenal glands	5443	POMC	ORPHA:71526
HP:0000834	Abnormality of the adrenal glands	1499	CTNNB1	ORPHA:54595
HP:0000834	Abnormality of the adrenal glands	673	BRAF	ORPHA:54595
HP:0000834	Abnormality of the adrenal glands	9095	TBX19	ORPHA:199296
HP:0000834	Abnormality of the adrenal glands	1188	CLCNKB	ORPHA:358
HP:0000834	Abnormality of the adrenal glands	6559	SLC12A3	ORPHA:358
HP:0000834	Abnormality of the adrenal glands	3762	KCNJ5	ORPHA:251274
HP:0000834	Abnormality of the adrenal glands	776	CACNA1D	ORPHA:369929
HP:0000834	Abnormality of the adrenal glands	1181	CLCN2	ORPHA:404
HP:0000834	Abnormality of the adrenal glands	1584	CYP11B1	ORPHA:403
HP:0000834	Abnormality of the adrenal glands	1585	CYP11B2	ORPHA:403
HP:0000834	Abnormality of the adrenal glands	7473	WNT3	OMIM:273395
HP:0000834	Abnormality of the adrenal glands	5447	POR	OMIM:201750
HP:0000834	Abnormality of the adrenal glands	7528	YY1	ORPHA:97279
HP:0000834	Abnormality of the adrenal glands	3418	IDH2	ORPHA:163634
HP:0000834	Abnormality of the adrenal glands	3417	IDH1	ORPHA:163634
HP:0000834	Abnormality of the adrenal glands	5728	PTEN	ORPHA:109
HP:0000835	Adrenal hypoplasia	2737	GLI3	ORPHA:672
HP:0000835	Adrenal hypoplasia	2737	GLI3	OMIM:146510
HP:0000835	Adrenal hypoplasia	128	ADH5	OMIM:619151
HP:0000835	Adrenal hypoplasia	9897	WASHC5	OMIM:220210
HP:0000835	Adrenal hypoplasia	9897	WASHC5	ORPHA:7
HP:0000835	Adrenal hypoplasia	9095	TBX19	ORPHA:199296
HP:0000835	Adrenal hypoplasia	9095	TBX19	OMIM:201400
HP:0000835	Adrenal hypoplasia	54809	SAMD9	OMIM:617053
HP:0000835	Adrenal hypoplasia	50814	NSDHL	OMIM:308050
HP:0000835	Adrenal hypoplasia	7148	TNXB	ORPHA:230839
HP:0000835	Adrenal hypoplasia	8425	LTBP4	OMIM:613177
HP:0000835	Adrenal hypoplasia	1583	CYP11A1	ORPHA:168558
HP:0000835	Adrenal hypoplasia	1583	CYP11A1	ORPHA:289548
HP:0000835	Adrenal hypoplasia	128674	PROKR2	ORPHA:95496
HP:0000835	Adrenal hypoplasia	89884	LHX4	ORPHA:95496
HP:0000835	Adrenal hypoplasia	55717	WDR11	ORPHA:95496
HP:0000835	Adrenal hypoplasia	6091	ROBO1	ORPHA:95496
HP:0000835	Adrenal hypoplasia	8820	HESX1	ORPHA:95496
HP:0000835	Adrenal hypoplasia	50937	CDON	ORPHA:95496
HP:0000835	Adrenal hypoplasia	23432	GPR161	ORPHA:95496
HP:0000835	Adrenal hypoplasia	6496	SIX3	OMIM:157170
HP:0000835	Adrenal hypoplasia	28952	CCDC22	ORPHA:7
HP:0000835	Adrenal hypoplasia	190	NR0B1	OMIM:300200
HP:0000835	Adrenal hypoplasia	5443	POMC	OMIM:609734
HP:0000835	Adrenal hypoplasia	652	BMP4	OMIM:607932
HP:0000835	Adrenal hypoplasia	54903	MKS1	OMIM:249000
HP:0000835	Adrenal hypoplasia	22858	CILK1	OMIM:612651
HP:0000835	Adrenal hypoplasia	1028	CDKN1C	OMIM:614732
HP:0000835	Adrenal hypoplasia	1028	CDKN1C	ORPHA:85173
HP:0000835	Adrenal hypoplasia	4524	MTHFR	ORPHA:563609
HP:0000835	Adrenal hypoplasia	57216	VANGL2	ORPHA:563609
HP:0000835	Adrenal hypoplasia	5189	PEX1	OMIM:214100
HP:0000835	Adrenal hypoplasia	51256	TBC1D7	OMIM:248000
HP:0000835	Adrenal hypoplasia	4000	LMNA	ORPHA:1662
HP:0000835	Adrenal hypoplasia	10269	ZMPSTE24	ORPHA:1662
HP:0000835	Adrenal hypoplasia	5426	POLE	OMIM:618336
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7528	YY1	ORPHA:506358
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6909	TBX2	OMIM:618223
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23394	ADNP	OMIM:615873
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10785	WDR4	OMIM:618347
HP:0000864	Abnormality of the hypothalamus-pituitary axis	22800	RRAS2	OMIM:618624
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8675	STX16	ORPHA:94089
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7681	MKRN3	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3653	IPW	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	791114	PWRN1	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	100033413	SNORD116-1	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8924	HERC2	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	145624	PWAR1	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23742	NPAP1	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	338433	SNORD115-1	OMIM:176270
HP:0000864	Abnormality of the hypothalamus-pituitary axis	27125	AFF4	ORPHA:444077
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55315	SLC29A3	OMIM:602782
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7707	ZNF148	OMIM:617260
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55159	RFWD3	OMIM:617784
HP:0000864	Abnormality of the hypothalamus-pituitary axis	113179	ADAT3	ORPHA:363528
HP:0000864	Abnormality of the hypothalamus-pituitary axis	113179	ADAT3	OMIM:615286
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55215	FANCI	OMIM:609053
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10908	PNPLA6	OMIM:275400
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2188	FANCF	OMIM:603467
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6777	STAT5B	OMIM:245590
HP:0000864	Abnormality of the hypothalamus-pituitary axis	284058	KANSL1	ORPHA:363958
HP:0000864	Abnormality of the hypothalamus-pituitary axis	284058	KANSL1	ORPHA:363965
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9581	PREPL	OMIM:616224
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55699	IARS2	ORPHA:436174
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55699	IARS2	OMIM:616007
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79184	BRCC3	ORPHA:280679
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5308	PITX2	OMIM:180500
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3481	IGF2	OMIM:180860
HP:0000864	Abnormality of the hypothalamus-pituitary axis	157680	VPS13B	OMIM:216550
HP:0000864	Abnormality of the hypothalamus-pituitary axis	25942	SIN3A	ORPHA:94065
HP:0000864	Abnormality of the hypothalamus-pituitary axis	25942	SIN3A	OMIM:613406
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5718	PSMD12	ORPHA:529962
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2186	BPTF	ORPHA:529962
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4297	KMT2A	ORPHA:319182
HP:0000864	Abnormality of the hypothalamus-pituitary axis	93627	TBCK	ORPHA:488632
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1028	CDKN1C	OMIM:614732
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57187	THOC2	ORPHA:457240
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54	ACP5	ORPHA:1855
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9056	SLC7A7	ORPHA:470
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84265	POLR3GL	OMIM:619234
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6905	TBCE	OMIM:241410
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54499	TMCO1	OMIM:213980
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2887	GRB10	ORPHA:96182
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5605	MAP2K2	OMIM:615280
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9702	CEP57	OMIM:614114
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9897	WASHC5	OMIM:220210
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2317	FLNB	ORPHA:1263
HP:0000864	Abnormality of the hypothalamus-pituitary axis	695	BTK	OMIM:307200
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9526	MPDU1	ORPHA:79323
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5144	PDE4D	ORPHA:280651
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1513	CTSK	ORPHA:763
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79644	SRD5A3	ORPHA:324737
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1968	EIF2S3	OMIM:300148
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5426	POLE	OMIM:618336
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51053	GMNN	OMIM:616835
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6664	SOX11	OMIM:615866
HP:0000864	Abnormality of the hypothalamus-pituitary axis	157570	ESCO2	OMIM:216100
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6469	SHH	OMIM:147250
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6469	SHH	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	145173	B3GLCT	ORPHA:709
HP:0000864	Abnormality of the hypothalamus-pituitary axis	29926	GMPPA	ORPHA:869
HP:0000864	Abnormality of the hypothalamus-pituitary axis	60684	TRAPPC11	ORPHA:869
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8086	AAAS	ORPHA:869
HP:0000864	Abnormality of the hypothalamus-pituitary axis	83550	GPR101	ORPHA:963
HP:0000864	Abnormality of the hypothalamus-pituitary axis	91147	TMEM67	OMIM:602152
HP:0000864	Abnormality of the hypothalamus-pituitary axis	652	BMP4	OMIM:607932
HP:0000864	Abnormality of the hypothalamus-pituitary axis	60401	EDA2R	ORPHA:181
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1896	EDA	ORPHA:181
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4509	MT-ATP8	ORPHA:480
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4567	MT-TL1	ORPHA:480
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50484	RRM2B	ORPHA:480
HP:0000864	Abnormality of the hypothalamus-pituitary axis	28514	DLL1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6496	SIX3	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7050	TGIF1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4838	NODAL	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7546	ZIC2	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6491	STIL	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2619	GAS1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84976	DISP1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2736	GLI2	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8928	FOXH1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5727	PTCH1	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50937	CDON	ORPHA:280195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8626	TP63	ORPHA:1896
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9723	SEMA3E	ORPHA:138
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10371	SEMA3A	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	81848	SPRY4	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23767	FLRT3	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	128674	PROKR2	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79625	NDNF	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	389549	FEZF1	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1630	DCC	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3730	ANOS1	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54756	IL17RD	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6663	SOX10	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	285025	CCDC141	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	60675	PROK2	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1848	DUSP6	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6870	TACR3	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55717	WDR11	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8820	HESX1	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8822	FGF17	ORPHA:478
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5456	POU3F4	ORPHA:1435
HP:0000864	Abnormality of the hypothalamus-pituitary axis	340719	NANOS1	ORPHA:399808
HP:0000864	Abnormality of the hypothalamus-pituitary axis	340719	NANOS1	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	668	FOXL2	OMIM:110100
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2492	FSHR	ORPHA:64739
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2492	FSHR	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2492	FSHR	OMIM:233300
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7490	WT1	ORPHA:347
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7490	WT1	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3973	LHCGR	OMIM:238320
HP:0000864	Abnormality of the hypothalamus-pituitary axis	29893	PSMC3IP	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	171568	POLR3H	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2516	NR5A1	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2516	NR5A1	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2516	NR5A1	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	125150	ZSWIM7	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9210	BMP15	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57122	NUP107	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23514	SPIDR	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56945	MRPS22	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	646	BNC1	ORPHA:243
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2099	ESR1	ORPHA:785
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23395	LARS2	OMIM:615300
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2332	FMR1	OMIM:311360
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6736	SRY	ORPHA:1772
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6736	SRY	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3295	HSD17B4	OMIM:233400
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6662	SOX9	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6845	VAMP7	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51741	WWOX	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4214	MAP3K1	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	58524	DMRT3	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57647	DHX37	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23414	ZFPM2	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	190	NR0B1	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2626	GATA4	ORPHA:251510
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5422	POLA1	ORPHA:163976
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56154	TEX15	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6875	TAF4B	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56155	TEX14	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7516	XRCC2	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	254528	MEIOB	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	91057	CCDC34	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	402381	SOHLH1	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	317719	KLHL10	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56159	TEX11	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57697	FANCM	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1080	CFTR	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84225	ZMYND15	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	122402	TDRD9	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	154197	PNLDC1	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	93426	SYCE1	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50511	SYCP3	ORPHA:399805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1586	CYP17A1	ORPHA:90793
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50846	DHH	ORPHA:168563
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5373	PMM2	ORPHA:79318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3248	HPGD	ORPHA:2796
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6578	SLCO2A1	ORPHA:2796
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3767	KCNJ11	ORPHA:79644
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3479	IGF1	OMIM:608747
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50940	PDE11A	ORPHA:1359
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7466	WFS1	ORPHA:411590
HP:0000864	Abnormality of the hypothalamus-pituitary axis	551	AVP	OMIM:125700
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54675	CRLS1	OMIM:620167
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79600	TCTN1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79848	CSPP1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54806	AHI1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54806	AHI1	ORPHA:220493
HP:0000864	Abnormality of the hypothalamus-pituitary axis	153241	CEP120	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	153241	CEP120	ORPHA:220493
HP:0000864	Abnormality of the hypothalamus-pituitary axis	65250	CPLANE1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	200894	ARL13B	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9731	CEP104	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	219844	HYLS1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	219854	TMEM218	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54903	MKS1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54903	MKS1	ORPHA:220493
HP:0000864	Abnormality of the hypothalamus-pituitary axis	95681	CEP41	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	95681	CEP41	ORPHA:220493
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9786	KIAA0586	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56623	INPP5E	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56623	INPP5E	ORPHA:1454
HP:0000864	Abnormality of the hypothalamus-pituitary axis	56623	INPP5E	ORPHA:220493
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79867	TCTN2	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80776	B9D2	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10464	PIBF1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80210	ARMC9	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23116	TOGARAM1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	25776	CBY1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	27077	B9D1	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	403	ARL3	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	65062	TMEM237	ORPHA:475
HP:0000864	Abnormality of the hypothalamus-pituitary axis	65062	TMEM237	ORPHA:220497
HP:0000864	Abnormality of the hypothalamus-pituitary axis	65062	TMEM237	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2296	FOXC1	ORPHA:782
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54476	RNF216	ORPHA:1173
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55240	STEAP3	ORPHA:300298
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23322	RPGRIP1L	ORPHA:220497
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23322	RPGRIP1L	ORPHA:1454
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4867	NPHP1	ORPHA:220497
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57545	CC2D2A	ORPHA:1454
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57545	CC2D2A	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1493	CTLA4	ORPHA:900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	26191	PTPN22	ORPHA:900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3115	HLA-DPB1	ORPHA:900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5657	PRTN3	ORPHA:900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3113	HLA-DPA1	ORPHA:900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	286	ANK1	ORPHA:251066
HP:0000864	Abnormality of the hypothalamus-pituitary axis	672	BRCA1	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10459	MAD2L2	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	29089	UBE2T	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	675	BRCA2	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55120	FANCL	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2177	FANCD2	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2175	FANCA	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2187	FANCB	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2176	FANCC	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2178	FANCE	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2189	FANCG	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5888	RAD51	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5889	RAD51C	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	83990	BRIP1	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79728	PALB2	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84464	SLX4	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2072	ERCC4	ORPHA:84
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79583	TMEM231	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51524	TMEM138	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23090	ZNF423	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80184	CEP290	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51259	TMEM216	ORPHA:2318
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55154	MSTO1	OMIM:617675
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55154	MSTO1	ORPHA:502423
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5618	PRLR	OMIM:615555
HP:0000864	Abnormality of the hypothalamus-pituitary axis	11128	POLR3A	ORPHA:3455
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23247	KATNIP	OMIM:616784
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7737	RNF113A	OMIM:300953
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10735	STAG2	ORPHA:220386
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10735	STAG2	ORPHA:93925
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8243	SMC1A	ORPHA:220386
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2917	GRM7	OMIM:618922
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23007	PLCH1	ORPHA:93925
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5566	PRKACA	ORPHA:189439
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8622	PDE8B	ORPHA:189439
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3458	IFNG	ORPHA:805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7248	TSC1	ORPHA:805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7249	TSC2	ORPHA:805
HP:0000864	Abnormality of the hypothalamus-pituitary axis	324	APC	ORPHA:99818
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4072	EPCAM	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4292	MLH1	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5395	PMS2	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	27030	MLH3	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	22909	FAN1	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7048	TGFBR2	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3845	KRAS	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2956	MSH6	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5378	PMS1	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4436	MSH2	ORPHA:144
HP:0000864	Abnormality of the hypothalamus-pituitary axis	64218	SEMA4A	ORPHA:440437
HP:0000864	Abnormality of the hypothalamus-pituitary axis	657	BMPR1A	ORPHA:440437
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6224	RPS20	ORPHA:440437
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79798	ARMC5	ORPHA:189427
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3418	IDH2	ORPHA:163634
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3417	IDH1	ORPHA:163634
HP:0000864	Abnormality of the hypothalamus-pituitary axis	83483	PLVAP	OMIM:618183
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7840	ALMS1	ORPHA:64
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51081	MRPS7	OMIM:617872
HP:0000864	Abnormality of the hypothalamus-pituitary axis	405753	DUOXA2	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6528	SLC5A5	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7038	TG	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7173	TPO	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	389434	IYD	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50506	DUOX2	ORPHA:95716
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50506	DUOX2	ORPHA:226316
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7068	THRB	OMIM:145650
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7068	THRB	OMIM:274300
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7355	SLC35A2	ORPHA:356961
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23137	SMC5	OMIM:620185
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7849	PAX8	OMIM:218700
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80067	DCAF17	OMIM:241080
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6567	SLC16A2	OMIM:300523
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5159	PDGFRB	OMIM:601812
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79048	SECISBP2	ORPHA:171706
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79048	SECISBP2	OMIM:609698
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1482	NKX2-5	OMIM:225250
HP:0000864	Abnormality of the hypothalamus-pituitary axis	169792	GLIS3	OMIM:610199
HP:0000864	Abnormality of the hypothalamus-pituitary axis	50485	SMARCAL1	OMIM:242900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5696	PSMB8	OMIM:256040
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55186	SLC25A36	OMIM:620211
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1621	DBH	OMIM:223360
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3547	IGSF1	OMIM:300888
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2778	GNAS	ORPHA:79443
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2778	GNAS	ORPHA:79444
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7201	TRHR	ORPHA:99832
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2737	GLI3	ORPHA:672
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8022	LHX3	OMIM:221750
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8022	LHX3	ORPHA:231720
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5443	POMC	OMIM:609734
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5443	POMC	ORPHA:71526
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2488	FSHB	ORPHA:52901
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5122	PCSK1	ORPHA:71528
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2260	FGFR1	OMIM:615465
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55636	CHD7	OMIM:214800
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7080	NKX2-1	OMIM:610978
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8468	FKBP6	OMIM:620103
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7555	CNBP	OMIM:602668
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3972	LHB	OMIM:228300
HP:0000864	Abnormality of the hypothalamus-pituitary axis	254394	MCM9	OMIM:616185
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2074	ERCC6	OMIM:616946
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84733	CBX2	OMIM:613080
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4439	MSH5	OMIM:617442
HP:0000864	Abnormality of the hypothalamus-pituitary axis	158401	SHOC1	OMIM:619949
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7200	TRH	OMIM:275120
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3953	LEPR	OMIM:614963
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3953	LEPR	ORPHA:179494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	283987	HID1	OMIM:619983
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3952	LEP	ORPHA:66628
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9915	ARNT2	OMIM:615926
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7252	TSHB	ORPHA:90674
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1027	CDKN1B	ORPHA:652
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1027	CDKN1B	ORPHA:276152
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1026	CDKN1A	ORPHA:652
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1030	CDKN2B	ORPHA:652
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1031	CDKN2C	ORPHA:652
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84196	USP48	ORPHA:96253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7157	TP53	ORPHA:96253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9101	USP8	ORPHA:96253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2908	NR3C1	ORPHA:96253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	546	ATRX	ORPHA:96253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2627	GATA6	ORPHA:2255
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55599	RNPC3	OMIM:618160
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4841	NONO	ORPHA:466791
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9791	PTDSS1	OMIM:151050
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6638	SNRPN	ORPHA:177904
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6638	SNRPN	ORPHA:177901
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6638	SNRPN	ORPHA:177907
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6638	SNRPN	ORPHA:98754
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4692	NDN	ORPHA:177904
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4692	NDN	ORPHA:177901
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4692	NDN	ORPHA:98754
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4948	OCA2	ORPHA:177904
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4948	OCA2	ORPHA:177901
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4948	OCA2	ORPHA:98754
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79989	IFT56	OMIM:619534
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23312	DMXL2	ORPHA:453533
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23312	DMXL2	OMIM:616113
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2688	GH1	OMIM:173100
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4524	MTHFR	ORPHA:563612
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57216	VANGL2	ORPHA:563612
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6926	TBX3	OMIM:181450
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8567	MADD	OMIM:619004
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2692	GHRHR	OMIM:618157
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9578	CDC42BPB	OMIM:619841
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4990	SIX6	OMIM:206900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6657	SOX2	OMIM:206900
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6657	SOX2	ORPHA:3157
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9095	TBX19	OMIM:201400
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84133	ZNRF3	ORPHA:1501
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1029	CDKN2A	ORPHA:1501
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3284	HSD3B2	ORPHA:90791
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4173	MCM4	OMIM:609981
HP:0000864	Abnormality of the hypothalamus-pituitary axis	215	ABCD1	ORPHA:139399
HP:0000864	Abnormality of the hypothalamus-pituitary axis	22827	PUF60	ORPHA:508488
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2077	ERF	OMIM:600775
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9289	ADGRG1	ORPHA:98889
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5297	PI4KA	ORPHA:98889
HP:0000864	Abnormality of the hypothalamus-pituitary axis	27286	SRPX2	ORPHA:98889
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6091	ROBO1	ORPHA:95496
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23432	GPR161	ORPHA:95496
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1859	DYRK1A	ORPHA:464311
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1859	DYRK1A	ORPHA:268261
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51726	DNAJB11	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23193	GANAB	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5310	PKD1	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5311	PKD2	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	29880	ALG5	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9742	IFT140	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79796	ALG9	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80114	BICC1	ORPHA:730
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2245	FGD1	OMIM:305400
HP:0000864	Abnormality of the hypothalamus-pituitary axis	286053	NSMCE2	OMIM:617253
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1730	DIAPH2	OMIM:300511
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2100	ESR2	OMIM:618187
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4438	MSH4	OMIM:619938
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1583	CYP11A1	ORPHA:168558
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1583	CYP11A1	ORPHA:289548
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8192	CLPP	OMIM:614129
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84515	MCM8	OMIM:612885
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1528	CYB5A	OMIM:250790
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1528	CYB5A	ORPHA:90796
HP:0000864	Abnormality of the hypothalamus-pituitary axis	658	BMPR1B	OMIM:609441
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5447	POR	ORPHA:95699
HP:0000864	Abnormality of the hypothalamus-pituitary axis	367	AR	OMIM:300068
HP:0000864	Abnormality of the hypothalamus-pituitary axis	367	AR	ORPHA:90797
HP:0000864	Abnormality of the hypothalamus-pituitary axis	367	AR	ORPHA:99429
HP:0000864	Abnormality of the hypothalamus-pituitary axis	93953	GCNA	OMIM:301077
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2661	GDF9	OMIM:618014
HP:0000864	Abnormality of the hypothalamus-pituitary axis	317761	C14orf39	OMIM:619203
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55012	PPP2R3C	OMIM:618419
HP:0000864	Abnormality of the hypothalamus-pituitary axis	344018	FIGLA	OMIM:612310
HP:0000864	Abnormality of the hypothalamus-pituitary axis	164045	HFM1	OMIM:615724
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84634	KISS1R	OMIM:176400
HP:0000864	Abnormality of the hypothalamus-pituitary axis	10734	STAG3	OMIM:615723
HP:0000864	Abnormality of the hypothalamus-pituitary axis	64072	CDH23	ORPHA:91347
HP:0000864	Abnormality of the hypothalamus-pituitary axis	64072	CDH23	ORPHA:2965
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4221	MEN1	ORPHA:2965
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9049	AIP	ORPHA:2965
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8139	GAN	ORPHA:643
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4791	NFKB2	ORPHA:293978
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8314	BAP1	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	4771	NF2	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6598	SMARCB1	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5155	PDGFB	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	84231	TRAF7	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6608	SMO	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	207	AKT1	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5290	PIK3CA	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7015	TERT	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51684	SUFU	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6605	SMARCE1	ORPHA:2495
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1499	CTNNB1	ORPHA:54595
HP:0000864	Abnormality of the hypothalamus-pituitary axis	673	BRAF	ORPHA:54595
HP:0000864	Abnormality of the hypothalamus-pituitary axis	22796	COG2	ORPHA:435934
HP:0000864	Abnormality of the hypothalamus-pituitary axis	22796	COG2	OMIM:617395
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9851	KIAA0753	OMIM:619476
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9851	KIAA0753	OMIM:619479
HP:0000864	Abnormality of the hypothalamus-pituitary axis	30813	VSX1	OMIM:614195
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9394	HS6ST1	OMIM:614880
HP:0000864	Abnormality of the hypothalamus-pituitary axis	9968	MED12	ORPHA:93932
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6492	SIM1	ORPHA:398079
HP:0000864	Abnormality of the hypothalamus-pituitary axis	55131	RBM28	OMIM:612079
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54551	MAGEL2	ORPHA:398069
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2783	GNB2	OMIM:619503
HP:0000864	Abnormality of the hypothalamus-pituitary axis	23031	MAST3	OMIM:620115
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2253	FGF8	OMIM:612702
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2693	GHSR	OMIM:615925
HP:0000864	Abnormality of the hypothalamus-pituitary axis	213	ALB	OMIM:615999
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7234	TRU-TCA1-1	OMIM:620198
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7253	TSHR	OMIM:609152
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7253	TSHR	OMIM:603373
HP:0000864	Abnormality of the hypothalamus-pituitary axis	1363	CPE	OMIM:619326
HP:0000864	Abnormality of the hypothalamus-pituitary axis	100134444	KCNJ18	OMIM:613239
HP:0000864	Abnormality of the hypothalamus-pituitary axis	8471	IRS4	OMIM:301035
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6907	TBL1X	OMIM:301033
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5573	PRKAR1A	OMIM:101800
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3043	HBB	ORPHA:231214
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3043	HBB	ORPHA:231226
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2193	FARSA	OMIM:619013
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5626	PROP1	ORPHA:226307
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5626	PROP1	ORPHA:95494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5626	PROP1	ORPHA:90695
HP:0000864	Abnormality of the hypothalamus-pituitary axis	89884	LHX4	ORPHA:226307
HP:0000864	Abnormality of the hypothalamus-pituitary axis	89884	LHX4	ORPHA:95494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5449	POU1F1	ORPHA:226307
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5449	POU1F1	OMIM:613038
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5449	POU1F1	ORPHA:95494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	116519	APOA5	OMIM:145750
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57688	ZSWIM6	ORPHA:1827
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57688	ZSWIM6	OMIM:603671
HP:0000864	Abnormality of the hypothalamus-pituitary axis	80324	PUS1	OMIM:600462
HP:0000864	Abnormality of the hypothalamus-pituitary axis	3170	FOXA2	ORPHA:95494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	5015	OTX2	ORPHA:95494
HP:0000864	Abnormality of the hypothalamus-pituitary axis	257	ALX3	ORPHA:391474
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6658	SOX3	ORPHA:90695
HP:0000864	Abnormality of the hypothalamus-pituitary axis	134218	DNAJC21	ORPHA:811
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79631	EFL1	ORPHA:811
HP:0000864	Abnormality of the hypothalamus-pituitary axis	51119	SBDS	ORPHA:811
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6729	SRP54	ORPHA:811
HP:0000864	Abnormality of the hypothalamus-pituitary axis	54820	NDE1	ORPHA:2177
HP:0000839	Pituitary dwarfism	5626	PROP1	ORPHA:226307
HP:0000839	Pituitary dwarfism	5626	PROP1	ORPHA:95494
HP:0000839	Pituitary dwarfism	5626	PROP1	ORPHA:90695
HP:0000839	Pituitary dwarfism	89884	LHX4	ORPHA:226307
HP:0000839	Pituitary dwarfism	89884	LHX4	OMIM:262700
HP:0000839	Pituitary dwarfism	89884	LHX4	ORPHA:95494
HP:0000839	Pituitary dwarfism	8022	LHX3	ORPHA:226307
HP:0000839	Pituitary dwarfism	8022	LHX3	OMIM:221750
HP:0000839	Pituitary dwarfism	5449	POU1F1	ORPHA:226307
HP:0000839	Pituitary dwarfism	5449	POU1F1	ORPHA:95494
HP:0000839	Pituitary dwarfism	8820	HESX1	ORPHA:226307
HP:0000839	Pituitary dwarfism	8820	HESX1	ORPHA:95494
HP:0000839	Pituitary dwarfism	6658	SOX3	OMIM:312000
HP:0000839	Pituitary dwarfism	6658	SOX3	ORPHA:90695
HP:0000839	Pituitary dwarfism	2736	GLI2	ORPHA:95494
HP:0000839	Pituitary dwarfism	3170	FOXA2	ORPHA:95494
HP:0000839	Pituitary dwarfism	5015	OTX2	ORPHA:95494
HP:0000839	Pituitary dwarfism	2688	GH1	OMIM:173100
HP:0000839	Pituitary dwarfism	2688	GH1	OMIM:262650
HP:0000841	Hyperactive renin-angiotensin system	6337	SCNN1A	OMIM:264350
HP:0000841	Hyperactive renin-angiotensin system	6557	SLC12A1	OMIM:601678
HP:0000841	Hyperactive renin-angiotensin system	7809	BSND	ORPHA:89938
HP:0000841	Hyperactive renin-angiotensin system	1188	CLCNKB	ORPHA:89938
HP:0000841	Hyperactive renin-angiotensin system	1188	CLCNKB	OMIM:607364
HP:0000841	Hyperactive renin-angiotensin system	1187	CLCNKA	ORPHA:89938
HP:0000841	Hyperactive renin-angiotensin system	1811	SLC26A3	OMIM:214700
HP:0000841	Hyperactive renin-angiotensin system	3758	KCNJ1	OMIM:241200
HP:0000841	Hyperactive renin-angiotensin system	4306	NR3C2	OMIM:177735
HP:0000842	Hyperinsulinemia	3767	KCNJ11	ORPHA:552
HP:0000842	Hyperinsulinemia	3767	KCNJ11	ORPHA:276580
HP:0000842	Hyperinsulinemia	3767	KCNJ11	OMIM:601820
HP:0000842	Hyperinsulinemia	3767	KCNJ11	ORPHA:79644
HP:0000842	Hyperinsulinemia	8462	KLF11	ORPHA:552
HP:0000842	Hyperinsulinemia	26060	APPL1	ORPHA:552
HP:0000842	Hyperinsulinemia	640	BLK	ORPHA:552
HP:0000842	Hyperinsulinemia	1056	CEL	ORPHA:552
HP:0000842	Hyperinsulinemia	4760	NEUROD1	ORPHA:552
HP:0000842	Hyperinsulinemia	3651	PDX1	ORPHA:552
HP:0000842	Hyperinsulinemia	6833	ABCC8	ORPHA:552
HP:0000842	Hyperinsulinemia	6833	ABCC8	OMIM:256450
HP:0000842	Hyperinsulinemia	6833	ABCC8	OMIM:240800
HP:0000842	Hyperinsulinemia	6833	ABCC8	ORPHA:276575
HP:0000842	Hyperinsulinemia	5078	PAX4	ORPHA:552
HP:0000842	Hyperinsulinemia	3172	HNF4A	ORPHA:552
HP:0000842	Hyperinsulinemia	3172	HNF4A	ORPHA:263455
HP:0000842	Hyperinsulinemia	6927	HNF1A	ORPHA:552
HP:0000842	Hyperinsulinemia	6927	HNF1A	ORPHA:324575
HP:0000842	Hyperinsulinemia	3630	INS	ORPHA:552
HP:0000842	Hyperinsulinemia	4351	MPI	ORPHA:79319
HP:0000842	Hyperinsulinemia	4351	MPI	OMIM:602579
HP:0000842	Hyperinsulinemia	54914	FOCAD	OMIM:619991
HP:0000842	Hyperinsulinemia	6566	SLC16A1	OMIM:610021
HP:0000842	Hyperinsulinemia	389692	MAFA	OMIM:147630
HP:0000842	Hyperinsulinemia	93587	TRMT10A	OMIM:616033
HP:0000842	Hyperinsulinemia	7351	UCP2	ORPHA:276556
HP:0000842	Hyperinsulinemia	7840	ALMS1	ORPHA:64
HP:0000842	Hyperinsulinemia	7840	ALMS1	OMIM:203800
HP:0000842	Hyperinsulinemia	10269	ZMPSTE24	OMIM:608612
HP:0000842	Hyperinsulinemia	1621	DBH	ORPHA:230
HP:0000842	Hyperinsulinemia	92840	REEP6	ORPHA:791
HP:0000842	Hyperinsulinemia	6094	ROM1	ORPHA:791
HP:0000842	Hyperinsulinemia	6017	RLBP1	ORPHA:791
HP:0000842	Hyperinsulinemia	7401	CLRN1	ORPHA:791
HP:0000842	Hyperinsulinemia	24	ABCA4	ORPHA:791
HP:0000842	Hyperinsulinemia	130557	ZNF513	ORPHA:791
HP:0000842	Hyperinsulinemia	582	BBS1	ORPHA:791
HP:0000842	Hyperinsulinemia	92211	CDHR1	ORPHA:791
HP:0000842	Hyperinsulinemia	23568	ARL2BP	ORPHA:791
HP:0000842	Hyperinsulinemia	6121	RPE65	ORPHA:791
HP:0000842	Hyperinsulinemia	54806	AHI1	ORPHA:791
HP:0000842	Hyperinsulinemia	6101	RP1	ORPHA:791
HP:0000842	Hyperinsulinemia	3419	IDH3A	ORPHA:791
HP:0000842	Hyperinsulinemia	4751	NEK2	ORPHA:791
HP:0000842	Hyperinsulinemia	346007	EYS	ORPHA:791
HP:0000842	Hyperinsulinemia	8100	IFT88	ORPHA:791
HP:0000842	Hyperinsulinemia	23020	SNRNP200	ORPHA:791
HP:0000842	Hyperinsulinemia	762	CA4	ORPHA:791
HP:0000842	Hyperinsulinemia	138050	HGSNAT	ORPHA:791
HP:0000842	Hyperinsulinemia	196	AHR	ORPHA:791
HP:0000842	Hyperinsulinemia	3614	IMPDH1	ORPHA:791
HP:0000842	Hyperinsulinemia	123016	TTC8	ORPHA:791
HP:0000842	Hyperinsulinemia	6103	RPGR	ORPHA:791
HP:0000842	Hyperinsulinemia	1406	CRX	ORPHA:791
HP:0000842	Hyperinsulinemia	5148	PDE6G	ORPHA:791
HP:0000842	Hyperinsulinemia	26160	IFT172	ORPHA:791
HP:0000842	Hyperinsulinemia	26121	PRPF31	ORPHA:791
HP:0000842	Hyperinsulinemia	583	BBS2	ORPHA:791
HP:0000842	Hyperinsulinemia	4117	MAK	ORPHA:791
HP:0000842	Hyperinsulinemia	25794	FSCN2	ORPHA:791
HP:0000842	Hyperinsulinemia	375298	CERKL	ORPHA:791
HP:0000842	Hyperinsulinemia	3420	IDH3B	ORPHA:791
HP:0000842	Hyperinsulinemia	57670	KIAA1549	ORPHA:791
HP:0000842	Hyperinsulinemia	7275	TUB	ORPHA:791
HP:0000842	Hyperinsulinemia	24148	PRPF6	ORPHA:791
HP:0000842	Hyperinsulinemia	23418	CRB1	ORPHA:791
HP:0000842	Hyperinsulinemia	10461	MERTK	ORPHA:791
HP:0000842	Hyperinsulinemia	57709	SLC7A14	ORPHA:791
HP:0000842	Hyperinsulinemia	768206	PRCD	ORPHA:791
HP:0000842	Hyperinsulinemia	7399	USH2A	ORPHA:791
HP:0000842	Hyperinsulinemia	23370	ARHGEF18	ORPHA:791
HP:0000842	Hyperinsulinemia	5949	RBP3	ORPHA:791
HP:0000842	Hyperinsulinemia	6010	RHO	ORPHA:791
HP:0000842	Hyperinsulinemia	6100	RP9	ORPHA:791
HP:0000842	Hyperinsulinemia	10002	NR2E3	ORPHA:791
HP:0000842	Hyperinsulinemia	9227	LRAT	ORPHA:791
HP:0000842	Hyperinsulinemia	84140	FAM161A	ORPHA:791
HP:0000842	Hyperinsulinemia	55812	SPATA7	ORPHA:791
HP:0000842	Hyperinsulinemia	55624	POMGNT1	ORPHA:791
HP:0000842	Hyperinsulinemia	79797	ZNF408	ORPHA:791
HP:0000842	Hyperinsulinemia	403	ARL3	ORPHA:791
HP:0000842	Hyperinsulinemia	5145	PDE6A	ORPHA:791
HP:0000842	Hyperinsulinemia	10210	TOPORS	ORPHA:791
HP:0000842	Hyperinsulinemia	8842	PROM1	ORPHA:791
HP:0000842	Hyperinsulinemia	9128	PRPF4	ORPHA:791
HP:0000842	Hyperinsulinemia	145226	RDH12	ORPHA:791
HP:0000842	Hyperinsulinemia	50939	IMPG2	ORPHA:791
HP:0000842	Hyperinsulinemia	8481	OFD1	ORPHA:791
HP:0000842	Hyperinsulinemia	49855	SCAPER	ORPHA:791
HP:0000842	Hyperinsulinemia	9742	IFT140	ORPHA:791
HP:0000842	Hyperinsulinemia	2979	GUCA1B	ORPHA:791
HP:0000842	Hyperinsulinemia	1259	CNGA1	ORPHA:791
HP:0000842	Hyperinsulinemia	1258	CNGB1	ORPHA:791
HP:0000842	Hyperinsulinemia	60509	AGBL5	ORPHA:791
HP:0000842	Hyperinsulinemia	5961	PRPH2	ORPHA:791
HP:0000842	Hyperinsulinemia	388939	PCARE	ORPHA:791
HP:0000842	Hyperinsulinemia	7439	BEST1	ORPHA:791
HP:0000842	Hyperinsulinemia	9785	DHX38	ORPHA:791
HP:0000842	Hyperinsulinemia	7287	TULP1	ORPHA:791
HP:0000842	Hyperinsulinemia	5995	RGR	ORPHA:791
HP:0000842	Hyperinsulinemia	9129	PRPF3	ORPHA:791
HP:0000842	Hyperinsulinemia	55975	KLHL7	ORPHA:791
HP:0000842	Hyperinsulinemia	3617	IMPG1	ORPHA:791
HP:0000842	Hyperinsulinemia	94137	RP1L1	ORPHA:791
HP:0000842	Hyperinsulinemia	5158	PDE6B	ORPHA:791
HP:0000842	Hyperinsulinemia	6102	RP2	ORPHA:791
HP:0000842	Hyperinsulinemia	55857	KIZ	ORPHA:791
HP:0000842	Hyperinsulinemia	64218	SEMA4A	ORPHA:791
HP:0000842	Hyperinsulinemia	4901	NRL	ORPHA:791
HP:0000842	Hyperinsulinemia	157657	CFAP418	ORPHA:791
HP:0000842	Hyperinsulinemia	10594	PRPF8	ORPHA:791
HP:0000842	Hyperinsulinemia	84100	ARL6	ORPHA:791
HP:0000842	Hyperinsulinemia	6295	SAG	ORPHA:791
HP:0000842	Hyperinsulinemia	79947	DHDDS	ORPHA:791
HP:0000842	Hyperinsulinemia	6492	SIM1	ORPHA:369873
HP:0000842	Hyperinsulinemia	26580	BSCL2	OMIM:269700
HP:0000842	Hyperinsulinemia	26580	BSCL2	ORPHA:363400
HP:0000842	Hyperinsulinemia	26580	BSCL2	ORPHA:528
HP:0000842	Hyperinsulinemia	5122	PCSK1	ORPHA:71528
HP:0000842	Hyperinsulinemia	4160	MC4R	ORPHA:71529
HP:0000842	Hyperinsulinemia	4160	MC4R	OMIM:618406
HP:0000842	Hyperinsulinemia	5443	POMC	ORPHA:71526
HP:0000842	Hyperinsulinemia	80067	DCAF17	ORPHA:3464
HP:0000842	Hyperinsulinemia	7681	MKRN3	OMIM:176270
HP:0000842	Hyperinsulinemia	3653	IPW	OMIM:176270
HP:0000842	Hyperinsulinemia	54551	MAGEL2	OMIM:176270
HP:0000842	Hyperinsulinemia	791114	PWRN1	OMIM:176270
HP:0000842	Hyperinsulinemia	100033413	SNORD116-1	OMIM:176270
HP:0000842	Hyperinsulinemia	8924	HERC2	OMIM:176270
HP:0000842	Hyperinsulinemia	145624	PWAR1	OMIM:176270
HP:0000842	Hyperinsulinemia	23742	NPAP1	OMIM:176270
HP:0000842	Hyperinsulinemia	338433	SNORD115-1	OMIM:176270
HP:0000842	Hyperinsulinemia	23137	SMC5	OMIM:620185
HP:0000842	Hyperinsulinemia	2099	ESR1	ORPHA:785
HP:0000842	Hyperinsulinemia	2099	ESR1	OMIM:615363
HP:0000842	Hyperinsulinemia	5346	PLIN1	ORPHA:280356
HP:0000842	Hyperinsulinemia	5468	PPARG	OMIM:604367
HP:0000842	Hyperinsulinemia	5468	PPARG	ORPHA:528
HP:0000842	Hyperinsulinemia	25970	SH2B1	ORPHA:329249
HP:0000842	Hyperinsulinemia	1363	CPE	OMIM:619326
HP:0000842	Hyperinsulinemia	129563	DIS3L2	ORPHA:2849
HP:0000842	Hyperinsulinemia	3952	LEP	ORPHA:66628
HP:0000842	Hyperinsulinemia	5373	PMM2	ORPHA:79318
HP:0000842	Hyperinsulinemia	10555	AGPAT2	ORPHA:528
HP:0000842	Hyperinsulinemia	10555	AGPAT2	OMIM:608594
HP:0000842	Hyperinsulinemia	284119	CAVIN1	ORPHA:528
HP:0000842	Hyperinsulinemia	284119	CAVIN1	OMIM:613327
HP:0000842	Hyperinsulinemia	2353	FOS	ORPHA:528
HP:0000842	Hyperinsulinemia	857	CAV1	ORPHA:528
HP:0000842	Hyperinsulinemia	109	ADCY3	OMIM:617885
HP:0000842	Hyperinsulinemia	3953	LEPR	ORPHA:179494
HP:0000842	Hyperinsulinemia	55186	SLC25A36	OMIM:620211
HP:0000842	Hyperinsulinemia	2584	GALK1	ORPHA:79237
HP:0000842	Hyperinsulinemia	2746	GLUD1	ORPHA:35878
HP:0000842	Hyperinsulinemia	3643	INSR	ORPHA:263458
HP:0000842	Hyperinsulinemia	3643	INSR	OMIM:609968
HP:0000842	Hyperinsulinemia	3643	INSR	ORPHA:769
HP:0000842	Hyperinsulinemia	3033	HADH	ORPHA:71212
HP:0000842	Hyperinsulinemia	4000	LMNA	ORPHA:79474
HP:0000842	Hyperinsulinemia	4221	MEN1	ORPHA:97279
HP:0000842	Hyperinsulinemia	7528	YY1	ORPHA:97279
HP:0000842	Hyperinsulinemia	60676	PAPPA2	OMIM:619489
HP:0000842	Hyperinsulinemia	2645	GCK	ORPHA:79299
HP:0000842	Hyperinsulinemia	1027	CDKN1B	ORPHA:276152
HP:0000843	Hyperparathyroidism	6557	SLC12A1	OMIM:601678
HP:0000843	Hyperparathyroidism	7421	VDR	ORPHA:93160
HP:0000843	Hyperparathyroidism	9071	CLDN10	OMIM:617671
HP:0000843	Hyperparathyroidism	5979	RET	OMIM:171400
HP:0000843	Hyperparathyroidism	55503	TRPV6	OMIM:618188
HP:0000843	Hyperparathyroidism	72	ACTG2	ORPHA:2604
HP:0000843	Hyperparathyroidism	2591	GALNT3	OMIM:211900
HP:0000843	Hyperparathyroidism	9842	PLEKHM1	OMIM:618107
HP:0000843	Hyperparathyroidism	6522	SLC4A2	OMIM:620366
HP:0000843	Hyperparathyroidism	3766	KCNJ10	ORPHA:705
HP:0000843	Hyperparathyroidism	2299	FOXI1	ORPHA:705
HP:0000843	Hyperparathyroidism	5172	SLC26A4	ORPHA:705
HP:0000843	Hyperparathyroidism	4952	OCRL	ORPHA:534
HP:0000843	Hyperparathyroidism	1594	CYP27B1	OMIM:264700
HP:0000843	Hyperparathyroidism	1594	CYP27B1	ORPHA:289157
HP:0000843	Hyperparathyroidism	760	CA2	ORPHA:2785
HP:0000843	Hyperparathyroidism	120227	CYP2R1	ORPHA:289157
HP:0000843	Hyperparathyroidism	4221	MEN1	ORPHA:652
HP:0000843	Hyperparathyroidism	4221	MEN1	ORPHA:99879
HP:0000843	Hyperparathyroidism	4221	MEN1	ORPHA:97279
HP:0000843	Hyperparathyroidism	1027	CDKN1B	ORPHA:652
HP:0000843	Hyperparathyroidism	1027	CDKN1B	OMIM:610755
HP:0000843	Hyperparathyroidism	1026	CDKN1A	ORPHA:652
HP:0000843	Hyperparathyroidism	1030	CDKN2B	ORPHA:652
HP:0000843	Hyperparathyroidism	1031	CDKN2C	ORPHA:652
HP:0000843	Hyperparathyroidism	79577	CDC73	ORPHA:143
HP:0000843	Hyperparathyroidism	79577	CDC73	ORPHA:99880
HP:0000843	Hyperparathyroidism	79577	CDC73	OMIM:145000
HP:0000843	Hyperparathyroidism	79577	CDC73	ORPHA:99879
HP:0000843	Hyperparathyroidism	1175	AP2S1	OMIM:600740
HP:0000843	Hyperparathyroidism	9247	GCM2	OMIM:617343
HP:0000843	Hyperparathyroidism	9247	GCM2	ORPHA:99879
HP:0000843	Hyperparathyroidism	79798	ARMC5	ORPHA:189427
HP:0000843	Hyperparathyroidism	2778	GNAS	ORPHA:189427
HP:0000843	Hyperparathyroidism	2767	GNA11	OMIM:145981
HP:0000843	Hyperparathyroidism	7528	YY1	ORPHA:97279
HP:0000843	Hyperparathyroidism	846	CASR	OMIM:239200
HP:0000849	Adrenocortical abnormality	4221	MEN1	ORPHA:652
HP:0000849	Adrenocortical abnormality	1027	CDKN1B	ORPHA:652
HP:0000849	Adrenocortical abnormality	1026	CDKN1A	ORPHA:652
HP:0000849	Adrenocortical abnormality	1030	CDKN2B	ORPHA:652
HP:0000849	Adrenocortical abnormality	1031	CDKN2C	ORPHA:652
HP:0000849	Adrenocortical abnormality	137814	NKX2-6	ORPHA:3384
HP:0000849	Adrenocortical abnormality	23129	PLXND1	ORPHA:3384
HP:0000849	Adrenocortical abnormality	215	ABCD1	ORPHA:139399
HP:0000849	Adrenocortical abnormality	5566	PRKACA	ORPHA:189439
HP:0000849	Adrenocortical abnormality	8622	PDE8B	ORPHA:189439
HP:0000849	Adrenocortical abnormality	5573	PRKAR1A	ORPHA:189439
HP:0000849	Adrenocortical abnormality	5573	PRKAR1A	OMIM:610489
HP:0000849	Adrenocortical abnormality	5573	PRKAR1A	ORPHA:1359
HP:0000849	Adrenocortical abnormality	50940	PDE11A	ORPHA:189439
HP:0000849	Adrenocortical abnormality	50940	PDE11A	OMIM:610475
HP:0000849	Adrenocortical abnormality	50940	PDE11A	ORPHA:1359
HP:0000849	Adrenocortical abnormality	2710	GK	OMIM:307030
HP:0000851	Congenital hypothyroidism	2304	FOXE1	OMIM:241850
HP:0000851	Congenital hypothyroidism	2304	FOXE1	ORPHA:1226
HP:0000851	Congenital hypothyroidism	405753	DUOXA2	ORPHA:95716
HP:0000851	Congenital hypothyroidism	6528	SLC5A5	ORPHA:95716
HP:0000851	Congenital hypothyroidism	7038	TG	ORPHA:95716
HP:0000851	Congenital hypothyroidism	7173	TPO	ORPHA:95716
HP:0000851	Congenital hypothyroidism	389434	IYD	ORPHA:95716
HP:0000851	Congenital hypothyroidism	50506	DUOX2	ORPHA:95716
HP:0000851	Congenital hypothyroidism	50506	DUOX2	OMIM:607200
HP:0000851	Congenital hypothyroidism	2627	GATA6	ORPHA:2255
HP:0000851	Congenital hypothyroidism	145173	B3GLCT	ORPHA:709
HP:0000851	Congenital hypothyroidism	7080	NKX2-1	ORPHA:209905
HP:0000851	Congenital hypothyroidism	7080	NKX2-1	OMIM:610978
HP:0000851	Congenital hypothyroidism	8085	KMT2D	OMIM:620186
HP:0000851	Congenital hypothyroidism	8085	KMT2D	OMIM:147920
HP:0000851	Congenital hypothyroidism	4796	TONSL	OMIM:271510
HP:0000851	Congenital hypothyroidism	526	ATP6V1B2	ORPHA:79500
HP:0000851	Congenital hypothyroidism	57465	TBC1D24	ORPHA:79500
HP:0000851	Congenital hypothyroidism	5573	PRKAR1A	ORPHA:280651
HP:0000851	Congenital hypothyroidism	5573	PRKAR1A	OMIM:101800
HP:0000851	Congenital hypothyroidism	5144	PDE4D	ORPHA:280651
HP:0000851	Congenital hypothyroidism	5144	PDE4D	OMIM:614613
HP:0000851	Congenital hypothyroidism	56246	MRAP	ORPHA:361
HP:0000851	Congenital hypothyroidism	6770	STAR	ORPHA:361
HP:0000851	Congenital hypothyroidism	4158	MC2R	ORPHA:361
HP:0000851	Congenital hypothyroidism	23530	NNT	ORPHA:361
HP:0000851	Congenital hypothyroidism	23530	NNT	OMIM:614736
HP:0000851	Congenital hypothyroidism	10587	TXNRD2	ORPHA:361
HP:0000851	Congenital hypothyroidism	7849	PAX8	OMIM:218700
HP:0000851	Congenital hypothyroidism	7067	THRA	OMIM:614450
HP:0000851	Congenital hypothyroidism	83696	TRAPPC9	ORPHA:352530
HP:0000851	Congenital hypothyroidism	92949	ADAMTSL1	ORPHA:521445
HP:0000851	Congenital hypothyroidism	2782	GNB1	OMIM:616973
HP:0000851	Congenital hypothyroidism	1482	NKX2-5	OMIM:225250
HP:0000851	Congenital hypothyroidism	169792	GLIS3	OMIM:610199
HP:0000851	Congenital hypothyroidism	9373	PLAA	OMIM:617527
HP:0000851	Congenital hypothyroidism	79693	YRDC	OMIM:619609
HP:0000851	Congenital hypothyroidism	7253	TSHR	ORPHA:90673
HP:0000851	Congenital hypothyroidism	7403	KDM6A	OMIM:147920
HP:0000852	Pseudohypoparathyroidism	5573	PRKAR1A	ORPHA:280651
HP:0000852	Pseudohypoparathyroidism	5144	PDE4D	ORPHA:280651
HP:0000852	Pseudohypoparathyroidism	149775	GNAS-AS1	OMIM:603233
HP:0000852	Pseudohypoparathyroidism	8675	STX16	OMIM:603233
HP:0000852	Pseudohypoparathyroidism	8675	STX16	ORPHA:94089
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	OMIM:603233
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	OMIM:612463
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	OMIM:612462
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	OMIM:103580
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	ORPHA:94089
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	ORPHA:79443
HP:0000852	Pseudohypoparathyroidism	2778	GNAS	ORPHA:79444
HP:0000852	Pseudohypoparathyroidism	54496	PRMT7	OMIM:617157
HP:0000852	Pseudohypoparathyroidism	54496	PRMT7	ORPHA:464288
HP:0000853	Goiter	291	SLC25A4	ORPHA:254892
HP:0000853	Goiter	5428	POLG	ORPHA:254892
HP:0000853	Goiter	56652	TWNK	ORPHA:254892
HP:0000853	Goiter	11232	POLG2	ORPHA:254892
HP:0000853	Goiter	50484	RRM2B	ORPHA:254892
HP:0000853	Goiter	55213	RCBTB1	OMIM:617175
HP:0000853	Goiter	7068	THRB	OMIM:188570
HP:0000853	Goiter	7068	THRB	OMIM:274300
HP:0000853	Goiter	25981	DNAH1	OMIM:617577
HP:0000853	Goiter	7253	TSHR	ORPHA:99819
HP:0000853	Goiter	7253	TSHR	ORPHA:424
HP:0000853	Goiter	7253	TSHR	OMIM:275200
HP:0000853	Goiter	7253	TSHR	ORPHA:90673
HP:0000853	Goiter	7253	TSHR	OMIM:609152
HP:0000853	Goiter	3766	KCNJ10	ORPHA:705
HP:0000853	Goiter	3766	KCNJ10	OMIM:600791
HP:0000853	Goiter	3766	KCNJ10	OMIM:274600
HP:0000853	Goiter	2299	FOXI1	ORPHA:705
HP:0000853	Goiter	2299	FOXI1	OMIM:600791
HP:0000853	Goiter	2299	FOXI1	OMIM:274600
HP:0000853	Goiter	5172	SLC26A4	ORPHA:705
HP:0000853	Goiter	5172	SLC26A4	OMIM:600791
HP:0000853	Goiter	5172	SLC26A4	OMIM:274600
HP:0000853	Goiter	7038	TG	OMIM:274700
HP:0000853	Goiter	7038	TG	ORPHA:95716
HP:0000853	Goiter	79783	SUGCT	OMIM:231690
HP:0000853	Goiter	7173	TPO	OMIM:274500
HP:0000853	Goiter	7173	TPO	ORPHA:95716
HP:0000853	Goiter	405753	DUOXA2	OMIM:274900
HP:0000853	Goiter	405753	DUOXA2	ORPHA:95716
HP:0000853	Goiter	5728	PTEN	OMIM:158350
HP:0000853	Goiter	5728	PTEN	ORPHA:201
HP:0000853	Goiter	7849	PAX8	OMIM:218700
HP:0000853	Goiter	779	CACNA1S	OMIM:188580
HP:0000853	Goiter	50506	DUOX2	ORPHA:226316
HP:0000853	Goiter	50506	DUOX2	ORPHA:95716
HP:0000853	Goiter	10483	SEC23B	OMIM:616858
HP:0000853	Goiter	10483	SEC23B	ORPHA:201
HP:0000853	Goiter	7252	TSHB	ORPHA:90674
HP:0000853	Goiter	4221	MEN1	ORPHA:652
HP:0000853	Goiter	1027	CDKN1B	ORPHA:652
HP:0000853	Goiter	1026	CDKN1A	ORPHA:652
HP:0000853	Goiter	1030	CDKN2B	ORPHA:652
HP:0000853	Goiter	1031	CDKN2C	ORPHA:652
HP:0000853	Goiter	7080	NKX2-1	OMIM:188550
HP:0000853	Goiter	6528	SLC5A5	ORPHA:95716
HP:0000853	Goiter	6528	SLC5A5	OMIM:274400
HP:0000853	Goiter	389434	IYD	ORPHA:95716
HP:0000853	Goiter	389434	IYD	OMIM:274800
HP:0000853	Goiter	100134444	KCNJ18	OMIM:613239
HP:0000853	Goiter	7201	TRHR	ORPHA:99832
HP:0000853	Goiter	2778	GNAS	ORPHA:562
HP:0000853	Goiter	6390	SDHB	ORPHA:201
HP:0000853	Goiter	6392	SDHD	ORPHA:201
HP:0000853	Goiter	6391	SDHC	ORPHA:201
HP:0000853	Goiter	207	AKT1	ORPHA:201
HP:0000853	Goiter	207	AKT1	OMIM:615109
HP:0000853	Goiter	205717	USF3	ORPHA:201
HP:0000853	Goiter	5290	PIK3CA	ORPHA:201
HP:0000853	Goiter	5290	PIK3CA	OMIM:615108
HP:0000853	Goiter	100144748	KLLN	ORPHA:201
HP:0000853	Goiter	64072	CDH23	ORPHA:91347
HP:0000853	Goiter	3418	IDH2	ORPHA:163634
HP:0000853	Goiter	3417	IDH1	ORPHA:163634
HP:0000853	Goiter	23405	DICER1	OMIM:138800
HP:0000853	Goiter	5573	PRKAR1A	ORPHA:1359
HP:0000853	Goiter	50940	PDE11A	ORPHA:1359
HP:0000853	Goiter	7840	ALMS1	OMIM:203800
HP:0000853	Goiter	9817	KEAP1	ORPHA:276399
HP:0000853	Goiter	23328	SASH1	OMIM:618373
HP:0000853	Goiter	4313	MMP2	ORPHA:371428
HP:0000853	Goiter	4323	MMP14	ORPHA:371428
HP:0000853	Goiter	5979	RET	OMIM:162300
HP:0000853	Goiter	2304	FOXE1	ORPHA:319487
HP:0000853	Goiter	3026	HABP2	ORPHA:319487
HP:0000853	Goiter	9562	MINPP1	ORPHA:319487
HP:0000853	Goiter	2138	EYA1	OMIM:113650
HP:0000853	Goiter	6495	SIX1	OMIM:113650
HP:0000854	Thyroid adenoma	5290	PIK3CA	OMIM:615108
HP:0000854	Thyroid adenoma	207	AKT1	OMIM:615109
HP:0000854	Thyroid adenoma	5728	PTEN	OMIM:158350
HP:0000854	Thyroid adenoma	355	FAS	ORPHA:3261
HP:0000854	Thyroid adenoma	356	FASLG	ORPHA:3261
HP:0000854	Thyroid adenoma	5580	PRKCD	ORPHA:3261
HP:0000854	Thyroid adenoma	843	CASP10	ORPHA:3261
HP:0000854	Thyroid adenoma	10125	RASGRP1	ORPHA:3261
HP:0000854	Thyroid adenoma	4437	MSH3	ORPHA:480536
HP:0000854	Thyroid adenoma	4437	MSH3	OMIM:617100
HP:0000854	Thyroid adenoma	4221	MEN1	OMIM:131100
HP:0000854	Thyroid adenoma	1027	CDKN1B	ORPHA:276152
HP:0000854	Thyroid adenoma	79577	CDC73	OMIM:145001
HP:0000855	Insulin resistance	80067	DCAF17	ORPHA:3464
HP:0000855	Insulin resistance	10367	MICU1	ORPHA:401768
HP:0000855	Insulin resistance	63924	CIDEC	ORPHA:435651
HP:0000855	Insulin resistance	3953	LEPR	ORPHA:179494
HP:0000855	Insulin resistance	3952	LEP	ORPHA:66628
HP:0000855	Insulin resistance	2074	ERCC6	OMIM:214150
HP:0000855	Insulin resistance	3479	IGF1	ORPHA:73272
HP:0000855	Insulin resistance	7840	ALMS1	ORPHA:64
HP:0000855	Insulin resistance	1621	DBH	ORPHA:230
HP:0000855	Insulin resistance	286053	NSMCE2	OMIM:617253
HP:0000855	Insulin resistance	3991	LIPE	ORPHA:435660
HP:0000855	Insulin resistance	3991	LIPE	OMIM:615980
HP:0000855	Insulin resistance	3290	HSD11B1	OMIM:614662
HP:0000855	Insulin resistance	3643	INSR	ORPHA:508
HP:0000855	Insulin resistance	3643	INSR	ORPHA:769
HP:0000855	Insulin resistance	3643	INSR	ORPHA:263458
HP:0000855	Insulin resistance	857	CAV1	OMIM:612526
HP:0000855	Insulin resistance	857	CAV1	ORPHA:528
HP:0000855	Insulin resistance	857	CAV1	OMIM:606721
HP:0000855	Insulin resistance	7486	WRN	ORPHA:902
HP:0000855	Insulin resistance	2887	GRB10	ORPHA:96182
HP:0000855	Insulin resistance	4000	LMNA	ORPHA:740
HP:0000855	Insulin resistance	4000	LMNA	ORPHA:90153
HP:0000855	Insulin resistance	4000	LMNA	ORPHA:280365
HP:0000855	Insulin resistance	4000	LMNA	ORPHA:79084
HP:0000855	Insulin resistance	4000	LMNA	ORPHA:2348
HP:0000855	Insulin resistance	10269	ZMPSTE24	ORPHA:740
HP:0000855	Insulin resistance	10269	ZMPSTE24	ORPHA:90154
HP:0000855	Insulin resistance	26580	BSCL2	ORPHA:363400
HP:0000855	Insulin resistance	26580	BSCL2	ORPHA:528
HP:0000855	Insulin resistance	5468	PPARG	OMIM:604367
HP:0000855	Insulin resistance	5468	PPARG	OMIM:125853
HP:0000855	Insulin resistance	5468	PPARG	ORPHA:79083
HP:0000855	Insulin resistance	5468	PPARG	ORPHA:528
HP:0000855	Insulin resistance	221496	LEMD2	OMIM:619322
HP:0000855	Insulin resistance	6934	TCF7L2	OMIM:125853
HP:0000855	Insulin resistance	3569	IL6	OMIM:125853
HP:0000855	Insulin resistance	3990	LIPC	OMIM:125853
HP:0000855	Insulin resistance	9479	MAPK8IP1	OMIM:125853
HP:0000855	Insulin resistance	56729	RETN	OMIM:125853
HP:0000855	Insulin resistance	4544	MTNR1B	OMIM:125853
HP:0000855	Insulin resistance	5506	PPP1R3A	OMIM:125853
HP:0000855	Insulin resistance	7466	WFS1	OMIM:125853
HP:0000855	Insulin resistance	208	AKT2	OMIM:125853
HP:0000855	Insulin resistance	208	AKT2	ORPHA:79085
HP:0000855	Insulin resistance	10644	IGF2BP2	OMIM:125853
HP:0000855	Insulin resistance	5167	ENPP1	OMIM:125853
HP:0000855	Insulin resistance	5770	PTPN1	OMIM:125853
HP:0000855	Insulin resistance	8660	IRS2	OMIM:125853
HP:0000855	Insulin resistance	3159	HMGA1	OMIM:125853
HP:0000855	Insulin resistance	6928	HNF1B	OMIM:125853
HP:0000855	Insulin resistance	3667	IRS1	OMIM:125853
HP:0000855	Insulin resistance	169026	SLC30A8	OMIM:125853
HP:0000855	Insulin resistance	2820	GPD2	OMIM:125853
HP:0000855	Insulin resistance	6514	SLC2A2	OMIM:125853
HP:0000855	Insulin resistance	3662	IRF4	ORPHA:3452
HP:0000855	Insulin resistance	10651	MTX2	ORPHA:90153
HP:0000855	Insulin resistance	5373	PMM2	ORPHA:79318
HP:0000855	Insulin resistance	5295	PIK3R1	OMIM:269880
HP:0000855	Insulin resistance	5295	PIK3R1	ORPHA:3163
HP:0000855	Insulin resistance	6524	SLC5A2	ORPHA:69076
HP:0000855	Insulin resistance	7518	XRCC4	OMIM:616541
HP:0000855	Insulin resistance	3483	IGFALS	ORPHA:140941
HP:0000855	Insulin resistance	9927	MFN2	ORPHA:2398
HP:0000855	Insulin resistance	5346	PLIN1	OMIM:613877
HP:0000855	Insulin resistance	84100	ARL6	OMIM:209900
HP:0000855	Insulin resistance	79140	CCDC28B	OMIM:209900
HP:0000855	Insulin resistance	582	BBS1	OMIM:209900
HP:0000855	Insulin resistance	84823	LMNB2	ORPHA:79087
HP:0000855	Insulin resistance	10555	AGPAT2	ORPHA:528
HP:0000855	Insulin resistance	284119	CAVIN1	ORPHA:528
HP:0000855	Insulin resistance	284119	CAVIN1	OMIM:613327
HP:0000855	Insulin resistance	2353	FOS	ORPHA:528
HP:0000855	Insulin resistance	641	BLM	ORPHA:125
HP:0000855	Insulin resistance	5424	POLD1	OMIM:615381
HP:0000855	Insulin resistance	109	ADCY3	OMIM:617885
HP:0000855	Insulin resistance	84984	CEP19	OMIM:615703
HP:0000855	Insulin resistance	1188	CLCNKB	ORPHA:358
HP:0000855	Insulin resistance	6559	SLC12A3	ORPHA:358
HP:0000855	Insulin resistance	1588	CYP19A1	ORPHA:91
HP:0000855	Insulin resistance	2627	GATA6	ORPHA:2255
HP:0000855	Insulin resistance	23019	CNOT1	ORPHA:556955
HP:0000855	Insulin resistance	6774	STAT3	ORPHA:99885
HP:0000855	Insulin resistance	256297	PTF1A	ORPHA:65288
HP:0000855	Insulin resistance	9451	EIF2AK3	ORPHA:1667
HP:0000855	Insulin resistance	3767	KCNJ11	ORPHA:552
HP:0000855	Insulin resistance	3767	KCNJ11	OMIM:610582
HP:0000855	Insulin resistance	3767	KCNJ11	ORPHA:99886
HP:0000855	Insulin resistance	8462	KLF11	ORPHA:552
HP:0000855	Insulin resistance	2645	GCK	ORPHA:552
HP:0000855	Insulin resistance	26060	APPL1	ORPHA:552
HP:0000855	Insulin resistance	640	BLK	ORPHA:552
HP:0000855	Insulin resistance	1056	CEL	ORPHA:552
HP:0000855	Insulin resistance	4760	NEUROD1	ORPHA:552
HP:0000855	Insulin resistance	3651	PDX1	ORPHA:552
HP:0000855	Insulin resistance	6833	ABCC8	ORPHA:552
HP:0000855	Insulin resistance	6833	ABCC8	OMIM:610374
HP:0000855	Insulin resistance	6833	ABCC8	ORPHA:99886
HP:0000855	Insulin resistance	5078	PAX4	ORPHA:552
HP:0000855	Insulin resistance	3172	HNF4A	ORPHA:552
HP:0000855	Insulin resistance	6927	HNF1A	ORPHA:552
HP:0000855	Insulin resistance	3630	INS	ORPHA:552
HP:0000855	Insulin resistance	57061	HYMAI	OMIM:601410
HP:0000855	Insulin resistance	57061	HYMAI	ORPHA:99886
HP:0000855	Insulin resistance	346171	ZFP57	OMIM:601410
HP:0000855	Insulin resistance	346171	ZFP57	ORPHA:99886
HP:0000855	Insulin resistance	5325	PLAGL1	ORPHA:99886
HP:0000857	Neonatal insulin-dependent diabetes mellitus	2627	GATA6	ORPHA:2255
HP:0000857	Neonatal insulin-dependent diabetes mellitus	23019	CNOT1	ORPHA:556955
HP:0000857	Neonatal insulin-dependent diabetes mellitus	6774	STAT3	ORPHA:99885
HP:0000857	Neonatal insulin-dependent diabetes mellitus	256297	PTF1A	ORPHA:65288
HP:0000857	Neonatal insulin-dependent diabetes mellitus	9451	EIF2AK3	ORPHA:1667
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3767	KCNJ11	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3767	KCNJ11	OMIM:610582
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3767	KCNJ11	ORPHA:99886
HP:0000857	Neonatal insulin-dependent diabetes mellitus	8462	KLF11	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	2645	GCK	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	26060	APPL1	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	640	BLK	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	1056	CEL	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	4760	NEUROD1	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3651	PDX1	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	6833	ABCC8	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0000857	Neonatal insulin-dependent diabetes mellitus	6833	ABCC8	ORPHA:99886
HP:0000857	Neonatal insulin-dependent diabetes mellitus	5078	PAX4	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3172	HNF4A	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	6927	HNF1A	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	3630	INS	ORPHA:552
HP:0000857	Neonatal insulin-dependent diabetes mellitus	57061	HYMAI	OMIM:601410
HP:0000857	Neonatal insulin-dependent diabetes mellitus	57061	HYMAI	ORPHA:99886
HP:0000857	Neonatal insulin-dependent diabetes mellitus	346171	ZFP57	OMIM:601410
HP:0000857	Neonatal insulin-dependent diabetes mellitus	346171	ZFP57	ORPHA:99886
HP:0000857	Neonatal insulin-dependent diabetes mellitus	5325	PLAGL1	ORPHA:99886
HP:0000858	Irregular menstruation	668	FOXL2	OMIM:110100
HP:0000858	Irregular menstruation	50964	SOST	OMIM:269500
HP:0000858	Irregular menstruation	5573	PRKAR1A	ORPHA:950
HP:0000858	Irregular menstruation	5573	PRKAR1A	ORPHA:189439
HP:0000858	Irregular menstruation	5573	PRKAR1A	OMIM:101800
HP:0000858	Irregular menstruation	5144	PDE4D	ORPHA:950
HP:0000858	Irregular menstruation	7840	ALMS1	ORPHA:64
HP:0000858	Irregular menstruation	7840	ALMS1	OMIM:203800
HP:0000858	Irregular menstruation	2261	FGFR3	OMIM:616482
HP:0000858	Irregular menstruation	5566	PRKACA	ORPHA:189439
HP:0000858	Irregular menstruation	8622	PDE8B	ORPHA:189439
HP:0000858	Irregular menstruation	50940	PDE11A	ORPHA:189439
HP:0000858	Irregular menstruation	63924	CIDEC	OMIM:615238
HP:0000858	Irregular menstruation	5257	PHKB	ORPHA:79240
HP:0000858	Irregular menstruation	9049	AIP	OMIM:102200
HP:0000858	Irregular menstruation	9049	AIP	ORPHA:2965
HP:0000858	Irregular menstruation	2778	GNAS	ORPHA:562
HP:0000858	Irregular menstruation	2778	GNAS	ORPHA:189427
HP:0000858	Irregular menstruation	57697	FANCM	OMIM:618096
HP:0000858	Irregular menstruation	11077	HSF2BP	OMIM:619245
HP:0000858	Irregular menstruation	317761	C14orf39	OMIM:619203
HP:0000858	Irregular menstruation	26284	ERAL1	OMIM:617565
HP:0000858	Irregular menstruation	5256	PHKA2	ORPHA:264580
HP:0000858	Irregular menstruation	5261	PHKG2	ORPHA:264580
HP:0000858	Irregular menstruation	64072	CDH23	ORPHA:91347
HP:0000858	Irregular menstruation	64072	CDH23	ORPHA:2965
HP:0000858	Irregular menstruation	2908	NR3C1	OMIM:615962
HP:0000858	Irregular menstruation	29072	SETD2	OMIM:616831
HP:0000858	Irregular menstruation	4221	MEN1	ORPHA:2965
HP:0000858	Irregular menstruation	79798	ARMC5	ORPHA:189427
HP:0000858	Irregular menstruation	2332	FMR1	OMIM:311360
HP:0000858	Irregular menstruation	27241	BBS9	OMIM:615986
HP:0000858	Irregular menstruation	5696	PSMB8	OMIM:256040
HP:0000858	Irregular menstruation	1161	ERCC8	OMIM:216400
HP:0000858	Irregular menstruation	1586	CYP17A1	ORPHA:90793
HP:0000858	Irregular menstruation	2542	SLC37A4	ORPHA:79259
HP:0000858	Irregular menstruation	1584	CYP11B1	ORPHA:90795
HP:0000858	Irregular menstruation	4000	LMNA	ORPHA:280365
HP:0000858	Irregular menstruation	4000	LMNA	ORPHA:2348
HP:0000858	Irregular menstruation	1528	CYB5A	ORPHA:90796
HP:0000858	Irregular menstruation	3481	IGF2	ORPHA:397590
HP:0000858	Irregular menstruation	1028	CDKN1C	ORPHA:397590
HP:0000858	Irregular menstruation	5324	PLAG1	ORPHA:397590
HP:0000858	Irregular menstruation	8091	HMGA2	ORPHA:397590
HP:0000858	Irregular menstruation	5468	PPARG	ORPHA:79083
HP:0000858	Irregular menstruation	84168	ANTXR1	ORPHA:2067
HP:0000858	Irregular menstruation	83550	GPR101	ORPHA:963
HP:0000860	Parathyroid hypoplasia	2625	GATA3	ORPHA:2237
HP:0000860	Parathyroid hypoplasia	6899	TBX1	OMIM:188400
HP:0000860	Parathyroid hypoplasia	55636	CHD7	OMIM:214800
HP:0000866	Euthyroid multinodular goiter	23405	DICER1	OMIM:138800
HP:0000866	Euthyroid multinodular goiter	5573	PRKAR1A	ORPHA:1359
HP:0000866	Euthyroid multinodular goiter	50940	PDE11A	ORPHA:1359
HP:0000867	Secondary hyperparathyroidism	7421	VDR	OMIM:277440
HP:0000867	Secondary hyperparathyroidism	1594	CYP27B1	OMIM:264700
HP:0000867	Secondary hyperparathyroidism	1594	CYP27B1	ORPHA:289157
HP:0000867	Secondary hyperparathyroidism	760	CA2	ORPHA:2785
HP:0000867	Secondary hyperparathyroidism	120227	CYP2R1	ORPHA:289157
HP:0000868	Decreased fertility in females	64072	CDH23	ORPHA:91347
HP:0000868	Decreased fertility in females	64072	CDH23	ORPHA:2965
HP:0000868	Decreased fertility in females	1528	CYB5A	ORPHA:90796
HP:0000868	Decreased fertility in females	1586	CYP17A1	ORPHA:90796
HP:0000868	Decreased fertility in females	2592	GALT	ORPHA:79239
HP:0000868	Decreased fertility in females	4221	MEN1	ORPHA:2965
HP:0000868	Decreased fertility in females	9049	AIP	ORPHA:2965
HP:0000868	Decreased fertility in females	641	BLM	OMIM:210900
HP:0000868	Decreased fertility in females	6662	SOX9	ORPHA:251510
HP:0000868	Decreased fertility in females	6845	VAMP7	ORPHA:251510
HP:0000868	Decreased fertility in females	51741	WWOX	ORPHA:251510
HP:0000868	Decreased fertility in females	4214	MAP3K1	ORPHA:251510
HP:0000868	Decreased fertility in females	2516	NR5A1	ORPHA:251510
HP:0000868	Decreased fertility in females	7490	WT1	ORPHA:251510
HP:0000868	Decreased fertility in females	58524	DMRT3	ORPHA:251510
HP:0000868	Decreased fertility in females	57647	DHX37	ORPHA:251510
HP:0000868	Decreased fertility in females	6736	SRY	ORPHA:251510
HP:0000868	Decreased fertility in females	23414	ZFPM2	ORPHA:251510
HP:0000868	Decreased fertility in females	190	NR0B1	ORPHA:251510
HP:0000868	Decreased fertility in females	2626	GATA4	ORPHA:251510
HP:0000868	Decreased fertility in females	26580	BSCL2	OMIM:269700
HP:0000868	Decreased fertility in females	10555	AGPAT2	OMIM:608594
HP:0000868	Decreased fertility in females	668	FOXL2	OMIM:110100
HP:0000868	Decreased fertility in females	668	FOXL2	ORPHA:572333
HP:0000868	Decreased fertility in females	347688	TUBB8	OMIM:616780
HP:0000868	Decreased fertility in females	347688	TUBB8	ORPHA:488191
HP:0000868	Decreased fertility in females	286151	FBXO43	OMIM:619697
HP:0000868	Decreased fertility in females	283677	REC114	OMIM:619176
HP:0000868	Decreased fertility in females	9319	TRIP13	OMIM:619011
HP:0000868	Decreased fertility in females	7784	ZP3	OMIM:617712
HP:0000868	Decreased fertility in females	5618	PRLR	OMIM:615555
HP:0000868	Decreased fertility in females	29893	PSMC3IP	OMIM:614324
HP:0000868	Decreased fertility in females	9453	GGPS1	OMIM:619518
HP:0000868	Decreased fertility in females	494551	WEE2	OMIM:617996
HP:0000868	Decreased fertility in females	494551	WEE2	ORPHA:488191
HP:0000868	Decreased fertility in females	25981	DNAH1	OMIM:617577
HP:0000868	Decreased fertility in females	25981	DNAH1	ORPHA:244
HP:0000868	Decreased fertility in females	22917	ZP1	OMIM:615774
HP:0000868	Decreased fertility in females	4438	MSH4	OMIM:619938
HP:0000868	Decreased fertility in females	115948	ODAD3	ORPHA:244
HP:0000868	Decreased fertility in females	54768	HYDIN	ORPHA:244
HP:0000868	Decreased fertility in females	352909	DNAAF3	ORPHA:244
HP:0000868	Decreased fertility in females	27148	STK36	ORPHA:244
HP:0000868	Decreased fertility in females	51314	NME8	ORPHA:244
HP:0000868	Decreased fertility in females	92749	DRC1	ORPHA:244
HP:0000868	Decreased fertility in females	54970	TTC12	ORPHA:244
HP:0000868	Decreased fertility in females	152110	NEK10	ORPHA:244
HP:0000868	Decreased fertility in females	8481	OFD1	ORPHA:244
HP:0000868	Decreased fertility in females	2302	FOXJ1	ORPHA:244
HP:0000868	Decreased fertility in females	221421	RSPH9	ORPHA:244
HP:0000868	Decreased fertility in females	85478	CCDC65	ORPHA:244
HP:0000868	Decreased fertility in females	55036	CCDC40	ORPHA:244
HP:0000868	Decreased fertility in females	51364	ZMYND10	ORPHA:244
HP:0000868	Decreased fertility in females	64446	DNAI2	ORPHA:244
HP:0000868	Decreased fertility in females	6674	SPAG1	ORPHA:244
HP:0000868	Decreased fertility in females	83544	DNAL1	ORPHA:244
HP:0000868	Decreased fertility in females	89765	RSPH1	ORPHA:244
HP:0000868	Decreased fertility in females	83538	ODAD4	ORPHA:244
HP:0000868	Decreased fertility in females	200373	CFAP221	ORPHA:244
HP:0000868	Decreased fertility in females	374407	DNAJB13	ORPHA:244
HP:0000868	Decreased fertility in females	55172	DNAAF2	ORPHA:244
HP:0000868	Decreased fertility in females	161582	DNAAF4	ORPHA:244
HP:0000868	Decreased fertility in females	2622	GAS8	ORPHA:244
HP:0000868	Decreased fertility in females	23639	DNAAF11	ORPHA:244
HP:0000868	Decreased fertility in females	27019	DNAI1	ORPHA:244
HP:0000868	Decreased fertility in females	345895	RSPH4A	ORPHA:244
HP:0000868	Decreased fertility in females	54919	DNAAF5	ORPHA:244
HP:0000868	Decreased fertility in females	6103	RPGR	ORPHA:244
HP:0000868	Decreased fertility in females	388389	CCDC103	ORPHA:244
HP:0000868	Decreased fertility in females	93233	ODAD1	ORPHA:244
HP:0000868	Decreased fertility in females	55130	ODAD2	ORPHA:244
HP:0000868	Decreased fertility in females	1767	DNAH5	ORPHA:244
HP:0000868	Decreased fertility in females	83861	RSPH3	ORPHA:244
HP:0000868	Decreased fertility in females	345643	MCIDAS	ORPHA:244
HP:0000868	Decreased fertility in females	56683	CFAP298	ORPHA:244
HP:0000868	Decreased fertility in females	79925	SPEF2	ORPHA:244
HP:0000868	Decreased fertility in females	10309	CCNO	ORPHA:244
HP:0000868	Decreased fertility in females	115399	LRRC56	ORPHA:244
HP:0000868	Decreased fertility in females	139212	DNAAF6	ORPHA:244
HP:0000868	Decreased fertility in females	123872	DNAAF1	ORPHA:244
HP:0000868	Decreased fertility in females	85016	CFAP300	ORPHA:244
HP:0000868	Decreased fertility in females	339829	CCDC39	ORPHA:244
HP:0000868	Decreased fertility in females	8701	DNAH11	ORPHA:244
HP:0000868	Decreased fertility in females	1770	DNAH9	ORPHA:244
HP:0000868	Decreased fertility in females	246176	GAS2L2	ORPHA:244
HP:0000868	Decreased fertility in females	11077	HSF2BP	OMIM:619245
HP:0000868	Decreased fertility in females	150365	MEI1	OMIM:618431
HP:0000868	Decreased fertility in females	79703	TOP6BL	OMIM:618432
HP:0000868	Decreased fertility in females	431705	ASTL	OMIM:619643
HP:0000868	Decreased fertility in females	79983	POF1B	OMIM:300604
HP:0000868	Decreased fertility in females	4439	MSH5	OMIM:617442
HP:0000868	Decreased fertility in females	24145	PANX1	OMIM:618550
HP:0000868	Decreased fertility in females	24145	PANX1	ORPHA:488191
HP:0000868	Decreased fertility in females	197135	PATL2	ORPHA:488191
HP:0000868	Decreased fertility in females	197135	PATL2	OMIM:617743
HP:0000868	Decreased fertility in females	7783	ZP2	OMIM:618353
HP:0000868	Decreased fertility in females	344018	FIGLA	OMIM:612310
HP:0000868	Decreased fertility in females	79816	TLE6	OMIM:616814
HP:0000868	Decreased fertility in females	54766	BTG4	OMIM:619009
HP:0000868	Decreased fertility in females	5241	PGR	OMIM:264080
HP:0000868	Decreased fertility in females	678	ZFP36L2	OMIM:620154
HP:0000868	Decreased fertility in females	1588	CYP19A1	ORPHA:91
HP:0000869	Secondary amenorrhea	2592	GALT	ORPHA:79239
HP:0000869	Secondary amenorrhea	4000	LMNA	ORPHA:280365
HP:0000869	Secondary amenorrhea	4000	LMNA	ORPHA:79474
HP:0000869	Secondary amenorrhea	4000	LMNA	ORPHA:2348
HP:0000869	Secondary amenorrhea	2260	FGFR1	ORPHA:432
HP:0000869	Secondary amenorrhea	81848	SPRY4	ORPHA:432
HP:0000869	Secondary amenorrhea	128674	PROKR2	ORPHA:432
HP:0000869	Secondary amenorrhea	2253	FGF8	ORPHA:432
HP:0000869	Secondary amenorrhea	60675	PROK2	ORPHA:432
HP:0000869	Secondary amenorrhea	55636	CHD7	ORPHA:432
HP:0000869	Secondary amenorrhea	6870	TACR3	ORPHA:432
HP:0000869	Secondary amenorrhea	1848	DUSP6	ORPHA:432
HP:0000869	Secondary amenorrhea	26012	NSMF	ORPHA:432
HP:0000869	Secondary amenorrhea	55717	WDR11	ORPHA:432
HP:0000869	Secondary amenorrhea	9394	HS6ST1	ORPHA:432
HP:0000869	Secondary amenorrhea	2796	GNRH1	ORPHA:432
HP:0000869	Secondary amenorrhea	2798	GNRHR	ORPHA:432
HP:0000869	Secondary amenorrhea	84634	KISS1R	ORPHA:432
HP:0000869	Secondary amenorrhea	6866	TAC3	ORPHA:432
HP:0000869	Secondary amenorrhea	8822	FGF17	ORPHA:432
HP:0000869	Secondary amenorrhea	3814	KISS1	ORPHA:432
HP:0000869	Secondary amenorrhea	84196	USP48	ORPHA:96253
HP:0000869	Secondary amenorrhea	7157	TP53	ORPHA:96253
HP:0000869	Secondary amenorrhea	9101	USP8	ORPHA:96253
HP:0000869	Secondary amenorrhea	64072	CDH23	ORPHA:96253
HP:0000869	Secondary amenorrhea	2908	NR3C1	ORPHA:96253
HP:0000869	Secondary amenorrhea	673	BRAF	ORPHA:96253
HP:0000869	Secondary amenorrhea	546	ATRX	ORPHA:96253
HP:0000869	Secondary amenorrhea	55213	RCBTB1	OMIM:617175
HP:0000869	Secondary amenorrhea	1730	DIAPH2	OMIM:300511
HP:0000869	Secondary amenorrhea	9210	BMP15	OMIM:300510
HP:0000869	Secondary amenorrhea	9210	BMP15	ORPHA:243
HP:0000869	Secondary amenorrhea	4438	MSH4	OMIM:619938
HP:0000869	Secondary amenorrhea	2074	ERCC6	OMIM:616946
HP:0000869	Secondary amenorrhea	5468	PPARG	ORPHA:79083
HP:0000869	Secondary amenorrhea	57817	HAMP	OMIM:613313
HP:0000869	Secondary amenorrhea	2516	NR5A1	OMIM:612964
HP:0000869	Secondary amenorrhea	2516	NR5A1	ORPHA:243
HP:0000869	Secondary amenorrhea	5573	PRKAR1A	OMIM:610489
HP:0000869	Secondary amenorrhea	5428	POLG	OMIM:258450
HP:0000869	Secondary amenorrhea	5428	POLG	OMIM:157640
HP:0000869	Secondary amenorrhea	668	FOXL2	OMIM:608996
HP:0000869	Secondary amenorrhea	668	FOXL2	ORPHA:572333
HP:0000869	Secondary amenorrhea	9060	PAPSS2	OMIM:612847
HP:0000869	Secondary amenorrhea	7486	WRN	ORPHA:902
HP:0000869	Secondary amenorrhea	1967	EIF2B1	OMIM:603896
HP:0000869	Secondary amenorrhea	29893	PSMC3IP	ORPHA:243
HP:0000869	Secondary amenorrhea	171568	POLR3H	ORPHA:243
HP:0000869	Secondary amenorrhea	125150	ZSWIM7	ORPHA:243
HP:0000869	Secondary amenorrhea	57122	NUP107	ORPHA:243
HP:0000869	Secondary amenorrhea	23514	SPIDR	ORPHA:243
HP:0000869	Secondary amenorrhea	2492	FSHR	ORPHA:243
HP:0000869	Secondary amenorrhea	56945	MRPS22	ORPHA:243
HP:0000869	Secondary amenorrhea	646	BNC1	ORPHA:243
HP:0000869	Secondary amenorrhea	57697	FANCM	OMIM:618096
HP:0000869	Secondary amenorrhea	6907	TBL1X	OMIM:301033
HP:0000869	Secondary amenorrhea	11077	HSF2BP	OMIM:619245
HP:0000869	Secondary amenorrhea	317761	C14orf39	OMIM:619203
HP:0000869	Secondary amenorrhea	5718	PSMD12	ORPHA:529962
HP:0000869	Secondary amenorrhea	2186	BPTF	ORPHA:529962
HP:0000869	Secondary amenorrhea	26284	ERAL1	OMIM:617565
HP:0000869	Secondary amenorrhea	3972	LHB	OMIM:228300
HP:0000869	Secondary amenorrhea	23395	LARS2	OMIM:615300
HP:0000869	Secondary amenorrhea	344018	FIGLA	OMIM:612310
HP:0000869	Secondary amenorrhea	54476	RNF216	OMIM:212840
HP:0000869	Secondary amenorrhea	7086	TKT	ORPHA:488618
HP:0000869	Secondary amenorrhea	135935	NOBOX	OMIM:611548
HP:0000870	Increased circulating prolactin concentration	5373	PMM2	ORPHA:79318
HP:0000870	Increased circulating prolactin concentration	55154	MSTO1	OMIM:617675
HP:0000870	Increased circulating prolactin concentration	55154	MSTO1	ORPHA:502423
HP:0000870	Increased circulating prolactin concentration	4221	MEN1	OMIM:131100
HP:0000870	Increased circulating prolactin concentration	4221	MEN1	ORPHA:99725
HP:0000870	Increased circulating prolactin concentration	2778	GNAS	OMIM:174800
HP:0000870	Increased circulating prolactin concentration	2778	GNAS	ORPHA:562
HP:0000870	Increased circulating prolactin concentration	5618	PRLR	OMIM:615555
HP:0000870	Increased circulating prolactin concentration	8314	BAP1	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	4771	NF2	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	6598	SMARCB1	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	5155	PDGFB	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	84231	TRAF7	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	6608	SMO	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	207	AKT1	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	5290	PIK3CA	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	7015	TERT	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	51684	SUFU	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	6605	SMARCE1	ORPHA:2495
HP:0000870	Increased circulating prolactin concentration	9049	AIP	OMIM:102200
HP:0000870	Increased circulating prolactin concentration	9049	AIP	ORPHA:99725
HP:0000870	Increased circulating prolactin concentration	7201	TRHR	ORPHA:99832
HP:0000870	Increased circulating prolactin concentration	83550	GPR101	OMIM:300942
HP:0000870	Increased circulating prolactin concentration	64072	CDH23	ORPHA:91347
HP:0000870	Increased circulating prolactin concentration	11128	POLR3A	ORPHA:3455
HP:0000870	Increased circulating prolactin concentration	5573	PRKAR1A	ORPHA:1359
HP:0000870	Increased circulating prolactin concentration	50940	PDE11A	ORPHA:1359
HP:0000870	Increased circulating prolactin concentration	7252	TSHB	ORPHA:90674
HP:0000870	Increased circulating prolactin concentration	1499	CTNNB1	ORPHA:54595
HP:0000870	Increased circulating prolactin concentration	673	BRAF	ORPHA:54595
HP:0000871	Panhypopituitarism	2737	GLI3	ORPHA:672
HP:0000871	Panhypopituitarism	2737	GLI3	OMIM:146510
HP:0000871	Panhypopituitarism	2260	FGFR1	ORPHA:280200
HP:0000871	Panhypopituitarism	2260	FGFR1	ORPHA:220386
HP:0000871	Panhypopituitarism	2260	FGFR1	ORPHA:93924
HP:0000871	Panhypopituitarism	28514	DLL1	ORPHA:280200
HP:0000871	Panhypopituitarism	28514	DLL1	ORPHA:220386
HP:0000871	Panhypopituitarism	28514	DLL1	ORPHA:93926
HP:0000871	Panhypopituitarism	28514	DLL1	ORPHA:93924
HP:0000871	Panhypopituitarism	28514	DLL1	ORPHA:93925
HP:0000871	Panhypopituitarism	2253	FGF8	ORPHA:280200
HP:0000871	Panhypopituitarism	2253	FGF8	ORPHA:220386
HP:0000871	Panhypopituitarism	2253	FGF8	ORPHA:93926
HP:0000871	Panhypopituitarism	2253	FGF8	ORPHA:93924
HP:0000871	Panhypopituitarism	2253	FGF8	ORPHA:93925
HP:0000871	Panhypopituitarism	6496	SIX3	ORPHA:280200
HP:0000871	Panhypopituitarism	6496	SIX3	ORPHA:220386
HP:0000871	Panhypopituitarism	6496	SIX3	ORPHA:93926
HP:0000871	Panhypopituitarism	6496	SIX3	ORPHA:93924
HP:0000871	Panhypopituitarism	6496	SIX3	ORPHA:93925
HP:0000871	Panhypopituitarism	7050	TGIF1	ORPHA:280200
HP:0000871	Panhypopituitarism	7050	TGIF1	ORPHA:220386
HP:0000871	Panhypopituitarism	7050	TGIF1	ORPHA:93926
HP:0000871	Panhypopituitarism	7050	TGIF1	ORPHA:93924
HP:0000871	Panhypopituitarism	7050	TGIF1	ORPHA:93925
HP:0000871	Panhypopituitarism	4838	NODAL	ORPHA:280200
HP:0000871	Panhypopituitarism	4838	NODAL	ORPHA:220386
HP:0000871	Panhypopituitarism	4838	NODAL	ORPHA:93926
HP:0000871	Panhypopituitarism	4838	NODAL	ORPHA:93924
HP:0000871	Panhypopituitarism	4838	NODAL	ORPHA:93925
HP:0000871	Panhypopituitarism	6469	SHH	ORPHA:280200
HP:0000871	Panhypopituitarism	6469	SHH	ORPHA:220386
HP:0000871	Panhypopituitarism	6469	SHH	ORPHA:93926
HP:0000871	Panhypopituitarism	6469	SHH	ORPHA:93924
HP:0000871	Panhypopituitarism	6469	SHH	ORPHA:93925
HP:0000871	Panhypopituitarism	51684	SUFU	ORPHA:280200
HP:0000871	Panhypopituitarism	7546	ZIC2	ORPHA:280200
HP:0000871	Panhypopituitarism	7546	ZIC2	ORPHA:220386
HP:0000871	Panhypopituitarism	7546	ZIC2	ORPHA:93926
HP:0000871	Panhypopituitarism	7546	ZIC2	ORPHA:93924
HP:0000871	Panhypopituitarism	7546	ZIC2	ORPHA:93925
HP:0000871	Panhypopituitarism	2619	GAS1	ORPHA:280200
HP:0000871	Panhypopituitarism	2619	GAS1	ORPHA:220386
HP:0000871	Panhypopituitarism	2619	GAS1	ORPHA:93926
HP:0000871	Panhypopituitarism	2619	GAS1	ORPHA:93924
HP:0000871	Panhypopituitarism	2619	GAS1	ORPHA:93925
HP:0000871	Panhypopituitarism	84976	DISP1	ORPHA:280200
HP:0000871	Panhypopituitarism	84976	DISP1	ORPHA:220386
HP:0000871	Panhypopituitarism	84976	DISP1	ORPHA:93926
HP:0000871	Panhypopituitarism	84976	DISP1	ORPHA:93924
HP:0000871	Panhypopituitarism	84976	DISP1	ORPHA:93925
HP:0000871	Panhypopituitarism	2736	GLI2	ORPHA:280200
HP:0000871	Panhypopituitarism	2736	GLI2	ORPHA:220386
HP:0000871	Panhypopituitarism	2736	GLI2	OMIM:610829
HP:0000871	Panhypopituitarism	2736	GLI2	ORPHA:93926
HP:0000871	Panhypopituitarism	2736	GLI2	ORPHA:93924
HP:0000871	Panhypopituitarism	2736	GLI2	ORPHA:93925
HP:0000871	Panhypopituitarism	8928	FOXH1	ORPHA:280200
HP:0000871	Panhypopituitarism	8928	FOXH1	ORPHA:220386
HP:0000871	Panhypopituitarism	8928	FOXH1	ORPHA:93926
HP:0000871	Panhypopituitarism	8928	FOXH1	ORPHA:93924
HP:0000871	Panhypopituitarism	8928	FOXH1	ORPHA:93925
HP:0000871	Panhypopituitarism	5727	PTCH1	ORPHA:280200
HP:0000871	Panhypopituitarism	5727	PTCH1	ORPHA:220386
HP:0000871	Panhypopituitarism	5727	PTCH1	OMIM:610828
HP:0000871	Panhypopituitarism	5727	PTCH1	ORPHA:93926
HP:0000871	Panhypopituitarism	5727	PTCH1	ORPHA:93924
HP:0000871	Panhypopituitarism	5727	PTCH1	ORPHA:93925
HP:0000871	Panhypopituitarism	50937	CDON	ORPHA:280200
HP:0000871	Panhypopituitarism	50937	CDON	ORPHA:220386
HP:0000871	Panhypopituitarism	50937	CDON	ORPHA:93926
HP:0000871	Panhypopituitarism	50937	CDON	ORPHA:93924
HP:0000871	Panhypopituitarism	50937	CDON	ORPHA:93925
HP:0000871	Panhypopituitarism	23247	KATNIP	OMIM:616784
HP:0000871	Panhypopituitarism	7737	RNF113A	OMIM:300953
HP:0000871	Panhypopituitarism	5626	PROP1	ORPHA:226307
HP:0000871	Panhypopituitarism	5626	PROP1	OMIM:262600
HP:0000871	Panhypopituitarism	89884	LHX4	ORPHA:226307
HP:0000871	Panhypopituitarism	8022	LHX3	ORPHA:226307
HP:0000871	Panhypopituitarism	5449	POU1F1	ORPHA:226307
HP:0000871	Panhypopituitarism	8820	HESX1	ORPHA:226307
HP:0000871	Panhypopituitarism	6658	SOX3	OMIM:312000
HP:0000871	Panhypopituitarism	6658	SOX3	OMIM:300123
HP:0000871	Panhypopituitarism	10735	STAG2	ORPHA:220386
HP:0000871	Panhypopituitarism	10735	STAG2	ORPHA:93925
HP:0000871	Panhypopituitarism	8243	SMC1A	ORPHA:220386
HP:0000871	Panhypopituitarism	6491	STIL	ORPHA:220386
HP:0000871	Panhypopituitarism	6491	STIL	ORPHA:93926
HP:0000871	Panhypopituitarism	6491	STIL	ORPHA:93924
HP:0000871	Panhypopituitarism	6491	STIL	ORPHA:93925
HP:0000871	Panhypopituitarism	2917	GRM7	OMIM:618922
HP:0000871	Panhypopituitarism	8567	MADD	OMIM:619004
HP:0000871	Panhypopituitarism	23007	PLCH1	ORPHA:93925
HP:0000872	Hashimoto thyroiditis	64421	DCLRE1C	ORPHA:275
HP:0000872	Hashimoto thyroiditis	6909	TBX2	OMIM:618223
HP:0000872	Hashimoto thyroiditis	10068	IL18BP	OMIM:618549
HP:0000872	Hashimoto thyroiditis	5297	PI4KA	ORPHA:436252
HP:0000872	Hashimoto thyroiditis	57217	TTC7A	ORPHA:436252
HP:0000872	Hashimoto thyroiditis	5336	PLCG2	OMIM:614468
HP:0000872	Hashimoto thyroiditis	5728	PTEN	ORPHA:109
HP:0000872	Hashimoto thyroiditis	5428	POLG	ORPHA:94125
HP:0000872	Hashimoto thyroiditis	1493	CTLA4	OMIM:140300
HP:0000872	Hashimoto thyroiditis	27022	FOXD3	OMIM:607836
HP:0000872	Hashimoto thyroiditis	83737	ITCH	OMIM:613385
HP:0000872	Hashimoto thyroiditis	716	C1S	OMIM:613783
HP:0000872	Hashimoto thyroiditis	51816	ADA2	OMIM:615688
HP:0000872	Hashimoto thyroiditis	10483	SEC23B	OMIM:616858
HP:0000872	Hashimoto thyroiditis	1027	CDKN1B	OMIM:610755
HP:0000872	Hashimoto thyroiditis	1188	CLCNKB	ORPHA:358
HP:0000872	Hashimoto thyroiditis	6559	SLC12A3	ORPHA:358
HP:0000873	Diabetes insipidus	8626	TP63	OMIM:604292
HP:0000873	Diabetes insipidus	5456	POU3F4	ORPHA:1435
HP:0000873	Diabetes insipidus	1499	CTNNB1	ORPHA:54595
HP:0000873	Diabetes insipidus	673	BRAF	ORPHA:54595
HP:0000873	Diabetes insipidus	8820	HESX1	OMIM:182230
HP:0000873	Diabetes insipidus	8820	HESX1	ORPHA:95496
HP:0000873	Diabetes insipidus	8820	HESX1	ORPHA:3157
HP:0000873	Diabetes insipidus	26191	PTPN22	ORPHA:397
HP:0000873	Diabetes insipidus	26191	PTPN22	ORPHA:900
HP:0000873	Diabetes insipidus	3106	HLA-B	ORPHA:397
HP:0000873	Diabetes insipidus	3123	HLA-DRB1	ORPHA:397
HP:0000873	Diabetes insipidus	3123	HLA-DRB1	ORPHA:797
HP:0000873	Diabetes insipidus	8974	P4HA2	ORPHA:397
HP:0000873	Diabetes insipidus	79989	IFT56	OMIM:619534
HP:0000873	Diabetes insipidus	23019	CNOT1	OMIM:618500
HP:0000873	Diabetes insipidus	551	AVP	ORPHA:30925
HP:0000873	Diabetes insipidus	2260	FGFR1	ORPHA:220386
HP:0000873	Diabetes insipidus	2260	FGFR1	OMIM:615465
HP:0000873	Diabetes insipidus	2260	FGFR1	ORPHA:93924
HP:0000873	Diabetes insipidus	2260	FGFR1	ORPHA:3157
HP:0000873	Diabetes insipidus	28514	DLL1	ORPHA:220386
HP:0000873	Diabetes insipidus	28514	DLL1	ORPHA:93926
HP:0000873	Diabetes insipidus	28514	DLL1	ORPHA:93924
HP:0000873	Diabetes insipidus	28514	DLL1	ORPHA:93925
HP:0000873	Diabetes insipidus	10735	STAG2	ORPHA:220386
HP:0000873	Diabetes insipidus	10735	STAG2	ORPHA:93925
HP:0000873	Diabetes insipidus	2253	FGF8	ORPHA:220386
HP:0000873	Diabetes insipidus	2253	FGF8	ORPHA:93926
HP:0000873	Diabetes insipidus	2253	FGF8	ORPHA:93924
HP:0000873	Diabetes insipidus	2253	FGF8	ORPHA:93925
HP:0000873	Diabetes insipidus	8243	SMC1A	ORPHA:220386
HP:0000873	Diabetes insipidus	6496	SIX3	ORPHA:220386
HP:0000873	Diabetes insipidus	6496	SIX3	OMIM:157170
HP:0000873	Diabetes insipidus	6496	SIX3	ORPHA:93926
HP:0000873	Diabetes insipidus	6496	SIX3	ORPHA:93924
HP:0000873	Diabetes insipidus	6496	SIX3	ORPHA:93925
HP:0000873	Diabetes insipidus	7050	TGIF1	ORPHA:220386
HP:0000873	Diabetes insipidus	7050	TGIF1	ORPHA:93926
HP:0000873	Diabetes insipidus	7050	TGIF1	ORPHA:93924
HP:0000873	Diabetes insipidus	7050	TGIF1	ORPHA:93925
HP:0000873	Diabetes insipidus	4838	NODAL	ORPHA:220386
HP:0000873	Diabetes insipidus	4838	NODAL	ORPHA:93926
HP:0000873	Diabetes insipidus	4838	NODAL	ORPHA:93924
HP:0000873	Diabetes insipidus	4838	NODAL	ORPHA:93925
HP:0000873	Diabetes insipidus	6469	SHH	ORPHA:220386
HP:0000873	Diabetes insipidus	6469	SHH	ORPHA:93926
HP:0000873	Diabetes insipidus	6469	SHH	ORPHA:93924
HP:0000873	Diabetes insipidus	6469	SHH	ORPHA:93925
HP:0000873	Diabetes insipidus	7546	ZIC2	ORPHA:220386
HP:0000873	Diabetes insipidus	7546	ZIC2	ORPHA:93926
HP:0000873	Diabetes insipidus	7546	ZIC2	ORPHA:93924
HP:0000873	Diabetes insipidus	7546	ZIC2	ORPHA:93925
HP:0000873	Diabetes insipidus	6491	STIL	ORPHA:220386
HP:0000873	Diabetes insipidus	6491	STIL	ORPHA:93926
HP:0000873	Diabetes insipidus	6491	STIL	ORPHA:93924
HP:0000873	Diabetes insipidus	6491	STIL	ORPHA:93925
HP:0000873	Diabetes insipidus	2619	GAS1	ORPHA:220386
HP:0000873	Diabetes insipidus	2619	GAS1	ORPHA:93926
HP:0000873	Diabetes insipidus	2619	GAS1	ORPHA:93924
HP:0000873	Diabetes insipidus	2619	GAS1	ORPHA:93925
HP:0000873	Diabetes insipidus	84976	DISP1	ORPHA:220386
HP:0000873	Diabetes insipidus	84976	DISP1	ORPHA:93926
HP:0000873	Diabetes insipidus	84976	DISP1	ORPHA:93924
HP:0000873	Diabetes insipidus	84976	DISP1	ORPHA:93925
HP:0000873	Diabetes insipidus	2736	GLI2	ORPHA:220386
HP:0000873	Diabetes insipidus	2736	GLI2	ORPHA:93926
HP:0000873	Diabetes insipidus	2736	GLI2	ORPHA:93924
HP:0000873	Diabetes insipidus	2736	GLI2	ORPHA:93925
HP:0000873	Diabetes insipidus	2736	GLI2	OMIM:615849
HP:0000873	Diabetes insipidus	8928	FOXH1	ORPHA:220386
HP:0000873	Diabetes insipidus	8928	FOXH1	ORPHA:93926
HP:0000873	Diabetes insipidus	8928	FOXH1	ORPHA:93924
HP:0000873	Diabetes insipidus	8928	FOXH1	ORPHA:93925
HP:0000873	Diabetes insipidus	5727	PTCH1	ORPHA:220386
HP:0000873	Diabetes insipidus	5727	PTCH1	ORPHA:93926
HP:0000873	Diabetes insipidus	5727	PTCH1	ORPHA:93924
HP:0000873	Diabetes insipidus	5727	PTCH1	ORPHA:93925
HP:0000873	Diabetes insipidus	50937	CDON	ORPHA:220386
HP:0000873	Diabetes insipidus	50937	CDON	ORPHA:95496
HP:0000873	Diabetes insipidus	50937	CDON	ORPHA:93926
HP:0000873	Diabetes insipidus	50937	CDON	ORPHA:93924
HP:0000873	Diabetes insipidus	50937	CDON	ORPHA:93925
HP:0000873	Diabetes insipidus	92335	STRADA	ORPHA:500533
HP:0000873	Diabetes insipidus	92335	STRADA	OMIM:611087
HP:0000873	Diabetes insipidus	1493	CTLA4	ORPHA:900
HP:0000873	Diabetes insipidus	3115	HLA-DPB1	ORPHA:900
HP:0000873	Diabetes insipidus	5657	PRTN3	ORPHA:900
HP:0000873	Diabetes insipidus	3113	HLA-DPA1	ORPHA:900
HP:0000873	Diabetes insipidus	493856	CISD2	ORPHA:3463
HP:0000873	Diabetes insipidus	493856	CISD2	OMIM:604928
HP:0000873	Diabetes insipidus	7466	WFS1	ORPHA:3463
HP:0000873	Diabetes insipidus	7466	WFS1	OMIM:222300
HP:0000873	Diabetes insipidus	7840	ALMS1	OMIM:203800
HP:0000873	Diabetes insipidus	128674	PROKR2	ORPHA:95496
HP:0000873	Diabetes insipidus	128674	PROKR2	ORPHA:3157
HP:0000873	Diabetes insipidus	89884	LHX4	ORPHA:95496
HP:0000873	Diabetes insipidus	55717	WDR11	ORPHA:95496
HP:0000873	Diabetes insipidus	6091	ROBO1	ORPHA:95496
HP:0000873	Diabetes insipidus	23432	GPR161	ORPHA:95496
HP:0000873	Diabetes insipidus	2717	GLA	ORPHA:324
HP:0000873	Diabetes insipidus	5728	PTEN	ORPHA:744
HP:0000873	Diabetes insipidus	207	AKT1	ORPHA:744
HP:0000873	Diabetes insipidus	5631	PRPS1	ORPHA:423479
HP:0000873	Diabetes insipidus	257	ALX3	ORPHA:391474
HP:0000873	Diabetes insipidus	11277	TREX1	OMIM:225750
HP:0000873	Diabetes insipidus	23007	PLCH1	ORPHA:93925
HP:0000873	Diabetes insipidus	9915	ARNT2	OMIM:615926
HP:0000873	Diabetes insipidus	9915	ARNT2	ORPHA:3157
HP:0000873	Diabetes insipidus	6657	SOX2	ORPHA:3157
HP:0000873	Diabetes insipidus	6658	SOX3	ORPHA:3157
HP:0000873	Diabetes insipidus	5015	OTX2	ORPHA:3157
HP:0000873	Diabetes insipidus	4952	OCRL	ORPHA:534
HP:0000873	Diabetes insipidus	56244	BTNL2	ORPHA:797
HP:0000873	Diabetes insipidus	359	AQP2	OMIM:125800
HP:0000873	Diabetes insipidus	359	AQP2	ORPHA:223
HP:0000873	Diabetes insipidus	554	AVPR2	ORPHA:223
HP:0000873	Diabetes insipidus	63894	VIPAS39	OMIM:613404
HP:0000873	Diabetes insipidus	84100	ARL6	OMIM:209900
HP:0000873	Diabetes insipidus	79140	CCDC28B	OMIM:209900
HP:0000873	Diabetes insipidus	582	BBS1	OMIM:209900
HP:0000873	Diabetes insipidus	26276	VPS33B	OMIM:208085
HP:0000873	Diabetes insipidus	54675	CRLS1	OMIM:620167
HP:0000875	Episodic hypertension	55654	TMEM127	OMIM:171300
HP:0000875	Episodic hypertension	5979	RET	OMIM:171300
HP:0000875	Episodic hypertension	6390	SDHB	OMIM:171300
HP:0000875	Episodic hypertension	6392	SDHD	OMIM:171300
HP:0000875	Episodic hypertension	4149	MAX	OMIM:171300
HP:0000875	Episodic hypertension	7428	VHL	OMIM:171300
HP:0000875	Episodic hypertension	10660	LBX1	OMIM:619483
HP:0000876	Oligomenorrhea	9563	H6PD	OMIM:604931
HP:0000876	Oligomenorrhea	2592	GALT	ORPHA:79239
HP:0000876	Oligomenorrhea	84196	USP48	ORPHA:96253
HP:0000876	Oligomenorrhea	7157	TP53	ORPHA:96253
HP:0000876	Oligomenorrhea	9101	USP8	ORPHA:96253
HP:0000876	Oligomenorrhea	9101	USP8	OMIM:219090
HP:0000876	Oligomenorrhea	64072	CDH23	ORPHA:96253
HP:0000876	Oligomenorrhea	2908	NR3C1	ORPHA:96253
HP:0000876	Oligomenorrhea	2908	NR3C1	ORPHA:786
HP:0000876	Oligomenorrhea	673	BRAF	ORPHA:96253
HP:0000876	Oligomenorrhea	546	ATRX	ORPHA:96253
HP:0000876	Oligomenorrhea	5618	PRLR	ORPHA:397685
HP:0000876	Oligomenorrhea	5618	PRLR	OMIM:615555
HP:0000876	Oligomenorrhea	10273	STUB1	ORPHA:412057
HP:0000876	Oligomenorrhea	3991	LIPE	ORPHA:435660
HP:0000876	Oligomenorrhea	2074	ERCC6	OMIM:616946
HP:0000876	Oligomenorrhea	5468	PPARG	ORPHA:79083
HP:0000876	Oligomenorrhea	5468	PPARG	ORPHA:528
HP:0000876	Oligomenorrhea	5468	PPARG	OMIM:604367
HP:0000876	Oligomenorrhea	208	AKT2	ORPHA:79085
HP:0000876	Oligomenorrhea	5346	PLIN1	OMIM:613877
HP:0000876	Oligomenorrhea	5346	PLIN1	ORPHA:280356
HP:0000876	Oligomenorrhea	5257	PHKB	ORPHA:79240
HP:0000876	Oligomenorrhea	10555	AGPAT2	ORPHA:528
HP:0000876	Oligomenorrhea	284119	CAVIN1	ORPHA:528
HP:0000876	Oligomenorrhea	26580	BSCL2	ORPHA:528
HP:0000876	Oligomenorrhea	2353	FOS	ORPHA:528
HP:0000876	Oligomenorrhea	857	CAV1	ORPHA:528
HP:0000876	Oligomenorrhea	2778	GNAS	ORPHA:79443
HP:0000876	Oligomenorrhea	2778	GNAS	ORPHA:79444
HP:0000876	Oligomenorrhea	7681	MKRN3	OMIM:176270
HP:0000876	Oligomenorrhea	3653	IPW	OMIM:176270
HP:0000876	Oligomenorrhea	54551	MAGEL2	OMIM:176270
HP:0000876	Oligomenorrhea	791114	PWRN1	OMIM:176270
HP:0000876	Oligomenorrhea	100033413	SNORD116-1	OMIM:176270
HP:0000876	Oligomenorrhea	8924	HERC2	OMIM:176270
HP:0000876	Oligomenorrhea	145624	PWAR1	OMIM:176270
HP:0000876	Oligomenorrhea	23742	NPAP1	OMIM:176270
HP:0000876	Oligomenorrhea	338433	SNORD115-1	OMIM:176270
HP:0000876	Oligomenorrhea	57697	FANCM	OMIM:618096
HP:0000876	Oligomenorrhea	493856	CISD2	OMIM:604928
HP:0000876	Oligomenorrhea	2488	FSHB	ORPHA:52901
HP:0000876	Oligomenorrhea	3972	LHB	OMIM:228300
HP:0000876	Oligomenorrhea	4439	MSH5	OMIM:617442
HP:0000876	Oligomenorrhea	5256	PHKA2	ORPHA:264580
HP:0000876	Oligomenorrhea	5261	PHKG2	ORPHA:264580
HP:0000876	Oligomenorrhea	63924	CIDEC	ORPHA:435651
HP:0000876	Oligomenorrhea	23395	LARS2	OMIM:615300
HP:0000876	Oligomenorrhea	9049	AIP	OMIM:219090
HP:0000876	Oligomenorrhea	54476	RNF216	OMIM:212840
HP:0000876	Oligomenorrhea	668	FOXL2	ORPHA:572333
HP:0000877	Insulin-resistant diabetes mellitus at puberty	5346	PLIN1	ORPHA:280356
HP:0000877	Insulin-resistant diabetes mellitus at puberty	26580	BSCL2	OMIM:269700
HP:0000877	Insulin-resistant diabetes mellitus at puberty	10555	AGPAT2	OMIM:608594
HP:0000878	11 pairs of ribs	3930	LBR	OMIM:215140
HP:0000878	11 pairs of ribs	6657	SOX2	ORPHA:77298
HP:0000878	11 pairs of ribs	6628	SNRPB	OMIM:117650
HP:0000878	11 pairs of ribs	65250	CPLANE1	OMIM:277170
HP:0000878	11 pairs of ribs	259232	NALCN	OMIM:616266
HP:0000878	11 pairs of ribs	650	BMP2	OMIM:617877
HP:0000878	11 pairs of ribs	100151683	RNU4ATAC	OMIM:210710
HP:0000878	11 pairs of ribs	1861	TOR1A	OMIM:618947
HP:0000878	11 pairs of ribs	55835	CENPJ	OMIM:613676
HP:0000878	11 pairs of ribs	5557	PRIM1	OMIM:620005
HP:0000878	11 pairs of ribs	22800	RRAS2	OMIM:618624
HP:0000878	11 pairs of ribs	1788	DNMT3A	OMIM:618724
HP:0000878	11 pairs of ribs	8854	ALDH1A2	OMIM:620025
HP:0000878	11 pairs of ribs	5590	PRKCZ	ORPHA:1606
HP:0000878	11 pairs of ribs	2563	GABRD	ORPHA:1606
HP:0000878	11 pairs of ribs	23013	SPEN	ORPHA:1606
HP:0000878	11 pairs of ribs	8510	MMP23B	ORPHA:1606
HP:0000878	11 pairs of ribs	7798	LUZP1	ORPHA:1606
HP:0000878	11 pairs of ribs	6497	SKI	ORPHA:1606
HP:0000878	11 pairs of ribs	10630	PDPN	ORPHA:1606
HP:0000878	11 pairs of ribs	3339	HSPG2	ORPHA:1606
HP:0000878	11 pairs of ribs	10277	UBE4B	ORPHA:1606
HP:0000878	11 pairs of ribs	8514	KCNAB2	ORPHA:1606
HP:0000878	11 pairs of ribs	473	RERE	ORPHA:1606
HP:0000878	11 pairs of ribs	63976	PRDM16	ORPHA:1606
HP:0000878	11 pairs of ribs	54897	CASZ1	ORPHA:1606
HP:0000878	11 pairs of ribs	526	ATP6V1B2	ORPHA:79500
HP:0000878	11 pairs of ribs	57465	TBC1D24	ORPHA:79500
HP:0000878	11 pairs of ribs	2317	FLNB	OMIM:108720
HP:0000878	11 pairs of ribs	6223	RPS19	OMIM:105650
HP:0000878	11 pairs of ribs	10236	HNRNPR	OMIM:620073
HP:0000878	11 pairs of ribs	222663	SCUBE3	OMIM:619184
HP:0000878	11 pairs of ribs	9469	CHST3	OMIM:245600
HP:0000878	11 pairs of ribs	26229	B3GAT3	OMIM:245600
HP:0000878	11 pairs of ribs	4927	NUP88	OMIM:618393
HP:0000878	11 pairs of ribs	6662	SOX9	ORPHA:140
HP:0000878	11 pairs of ribs	6662	SOX9	OMIM:114290
HP:0000878	11 pairs of ribs	10847	SRCAP	OMIM:136140
HP:0000878	11 pairs of ribs	10847	SRCAP	ORPHA:2044
HP:0000878	11 pairs of ribs	10013	HDAC6	OMIM:300863
HP:0000878	11 pairs of ribs	23114	NFASC	OMIM:618356
HP:0000878	11 pairs of ribs	11041	B4GAT1	OMIM:615287
HP:0000878	11 pairs of ribs	8942	KYNU	OMIM:617661
HP:0000878	11 pairs of ribs	545	ATR	OMIM:210600
HP:0000878	11 pairs of ribs	93627	TBCK	ORPHA:488632
HP:0000878	11 pairs of ribs	29980	DONSON	OMIM:617604
HP:0000878	11 pairs of ribs	22995	CEP152	OMIM:613823
HP:0000878	11 pairs of ribs	2879	GPX4	OMIM:250220
HP:0000878	11 pairs of ribs	126792	B3GALT6	OMIM:271640
HP:0000879	Short sternum	4784	NFIX	OMIM:602535
HP:0000879	Short sternum	57492	ARID1B	OMIM:135900
HP:0000879	Short sternum	25836	NIPBL	OMIM:122470
HP:0000879	Short sternum	79583	TMEM231	ORPHA:2752
HP:0000879	Short sternum	701	BUB1B	OMIM:257300
HP:0000879	Short sternum	9241	NOG	OMIM:186500
HP:0000879	Short sternum	4036	LRP2	OMIM:222448
HP:0000879	Short sternum	7703	PCGF2	OMIM:618371
HP:0000879	Short sternum	2719	GPC3	OMIM:312870
HP:0000879	Short sternum	2239	GPC4	OMIM:312870
HP:0000879	Short sternum	118924	FRA10AC1	OMIM:620113
HP:0000879	Short sternum	26040	SETBP1	OMIM:269150
HP:0000879	Short sternum	3911	LAMA5	OMIM:620076
HP:0000879	Short sternum	8241	RBM10	ORPHA:2886
HP:0000879	Short sternum	8241	RBM10	OMIM:311900
HP:0000883	Thin ribs	9131	AIFM1	OMIM:300232
HP:0000883	Thin ribs	1280	COL2A1	OMIM:151210
HP:0000883	Thin ribs	5351	PLOD1	OMIM:225400
HP:0000883	Thin ribs	4593	MUSK	OMIM:208150
HP:0000883	Thin ribs	10046	MAMLD1	ORPHA:456328
HP:0000883	Thin ribs	4534	MTM1	ORPHA:456328
HP:0000883	Thin ribs	5530	PPP3CA	OMIM:618265
HP:0000883	Thin ribs	55503	TRPV6	OMIM:618188
HP:0000883	Thin ribs	9820	CUL7	ORPHA:2616
HP:0000883	Thin ribs	23363	OBSL1	ORPHA:2616
HP:0000883	Thin ribs	23363	OBSL1	OMIM:612921
HP:0000883	Thin ribs	83987	CCDC8	ORPHA:2616
HP:0000883	Thin ribs	10013	HDAC6	ORPHA:163966
HP:0000883	Thin ribs	10013	HDAC6	OMIM:300863
HP:0000883	Thin ribs	1277	COL1A1	OMIM:259420
HP:0000883	Thin ribs	1277	COL1A1	OMIM:166210
HP:0000883	Thin ribs	1278	COL1A2	OMIM:259420
HP:0000883	Thin ribs	1278	COL1A2	OMIM:166210
HP:0000883	Thin ribs	11128	POLR3A	OMIM:264090
HP:0000883	Thin ribs	274	BIN1	ORPHA:169189
HP:0000883	Thin ribs	64419	MTMR14	ORPHA:169189
HP:0000883	Thin ribs	4618	MYF6	ORPHA:169189
HP:0000883	Thin ribs	1785	DNM2	ORPHA:169189
HP:0000883	Thin ribs	1785	DNM2	OMIM:615368
HP:0000883	Thin ribs	6261	RYR1	ORPHA:169189
HP:0000883	Thin ribs	9871	SEC24D	OMIM:616294
HP:0000883	Thin ribs	91179	SCARF2	OMIM:600920
HP:0000883	Thin ribs	5159	PDGFRB	OMIM:601812
HP:0000883	Thin ribs	10651	MTX2	OMIM:619127
HP:0000883	Thin ribs	23233	EXOC6B	OMIM:618395
HP:0000883	Thin ribs	58	ACTA1	ORPHA:171430
HP:0000883	Thin ribs	4703	NEB	ORPHA:171430
HP:0000883	Thin ribs	131377	KLHL40	ORPHA:171430
HP:0000883	Thin ribs	10324	KLHL41	ORPHA:171430
HP:0000883	Thin ribs	56203	LMOD3	ORPHA:171430
HP:0000883	Thin ribs	25914	RTTN	OMIM:614833
HP:0000883	Thin ribs	6662	SOX9	OMIM:114290
HP:0000883	Thin ribs	3911	LAMA5	OMIM:620076
HP:0000883	Thin ribs	64175	P3H1	OMIM:610915
HP:0000883	Thin ribs	6497	SKI	OMIM:182212
HP:0000883	Thin ribs	6905	TBCE	OMIM:244460
HP:0000883	Thin ribs	6905	TBCE	ORPHA:93324
HP:0000883	Thin ribs	4998	ORC1	OMIM:224690
HP:0000883	Thin ribs	11274	USP18	OMIM:617397
HP:0000883	Thin ribs	55603	TENT5A	OMIM:617952
HP:0000883	Thin ribs	4000	LMNA	ORPHA:1662
HP:0000883	Thin ribs	10269	ZMPSTE24	ORPHA:1662
HP:0000883	Thin ribs	8815	BANF1	OMIM:614008
HP:0000883	Thin ribs	3977	LIFR	OMIM:601559
HP:0000883	Thin ribs	1301	COL11A1	OMIM:228520
HP:0000883	Thin ribs	7471	WNT1	OMIM:615220
HP:0000883	Thin ribs	1146	CHRNG	OMIM:253290
HP:0000883	Thin ribs	1144	CHRND	OMIM:253290
HP:0000883	Thin ribs	1134	CHRNA1	OMIM:253290
HP:0000883	Thin ribs	871	SERPINH1	OMIM:613848
HP:0000883	Thin ribs	63901	FAM111A	OMIM:602361
HP:0000884	Prominent sternum	54808	DYM	OMIM:223800
HP:0000884	Prominent sternum	54808	DYM	OMIM:607326
HP:0000884	Prominent sternum	9131	AIFM1	OMIM:300232
HP:0000884	Prominent sternum	23414	ZFPM2	ORPHA:2140
HP:0000884	Prominent sternum	9361	LONP1	ORPHA:2140
HP:0000884	Prominent sternum	2627	GATA6	ORPHA:2140
HP:0000884	Prominent sternum	388015	RTL1	ORPHA:254528
HP:0000884	Prominent sternum	388015	RTL1	ORPHA:96334
HP:0000884	Prominent sternum	8788	DLK1	ORPHA:254528
HP:0000884	Prominent sternum	8788	DLK1	ORPHA:96334
HP:0000884	Prominent sternum	55384	MEG3	ORPHA:254528
HP:0000884	Prominent sternum	55384	MEG3	ORPHA:96334
HP:0000884	Prominent sternum	650	BMP2	OMIM:617877
HP:0000884	Prominent sternum	2720	GLB1	OMIM:253010
HP:0000884	Prominent sternum	2588	GALNS	OMIM:253000
HP:0000884	Prominent sternum	6023	RMRP	OMIM:250250
HP:0000884	Prominent sternum	5593	PRKG2	OMIM:619636
HP:0000884	Prominent sternum	7476	WNT7A	OMIM:276820
HP:0000884	Prominent sternum	411	ARSB	OMIM:253200
HP:0000886	Deformed rib cage	7421	VDR	OMIM:277440
HP:0000886	Deformed rib cage	120227	CYP2R1	OMIM:600081
HP:0000886	Deformed rib cage	120227	CYP2R1	ORPHA:289157
HP:0000886	Deformed rib cage	1594	CYP27B1	OMIM:264700
HP:0000886	Deformed rib cage	1594	CYP27B1	ORPHA:289157
HP:0000886	Deformed rib cage	142680	SLC34A3	OMIM:241530
HP:0000886	Deformed rib cage	134218	DNAJC21	ORPHA:811
HP:0000886	Deformed rib cage	79631	EFL1	ORPHA:811
HP:0000886	Deformed rib cage	51119	SBDS	ORPHA:811
HP:0000886	Deformed rib cage	6729	SRP54	ORPHA:811
HP:0000888	Horizontal ribs	1280	COL2A1	OMIM:200610
HP:0000888	Horizontal ribs	79659	DYNC2H1	OMIM:613091
HP:0000888	Horizontal ribs	51626	DYNC2LI1	OMIM:617088
HP:0000888	Horizontal ribs	2121	EVC	OMIM:225500
HP:0000888	Horizontal ribs	132884	EVC2	OMIM:225500
HP:0000888	Horizontal ribs	28981	IFT81	OMIM:617895
HP:0000888	Horizontal ribs	153241	CEP120	OMIM:616300
HP:0000888	Horizontal ribs	4750	NEK1	OMIM:263520
HP:0000888	Horizontal ribs	89891	DYNC2I2	OMIM:615633
HP:0000888	Horizontal ribs	27152	INTU	OMIM:617925
HP:0000888	Horizontal ribs	9820	CUL7	ORPHA:2616
HP:0000888	Horizontal ribs	23363	OBSL1	ORPHA:2616
HP:0000888	Horizontal ribs	83987	CCDC8	ORPHA:2616
HP:0000888	Horizontal ribs	57539	WDR35	OMIM:613610
HP:0000888	Horizontal ribs	3930	LBR	OMIM:618019
HP:0000888	Horizontal ribs	255758	DYNLT2B	OMIM:617405
HP:0000888	Horizontal ribs	5826	ABCD4	OMIM:614857
HP:0000889	Abnormal clavicle morphology	55112	DYNC2I1	ORPHA:474
HP:0000889	Abnormal clavicle morphology	26160	IFT172	ORPHA:474
HP:0000889	Abnormal clavicle morphology	153241	CEP120	ORPHA:474
HP:0000889	Abnormal clavicle morphology	57560	IFT80	ORPHA:474
HP:0000889	Abnormal clavicle morphology	51626	DYNC2LI1	ORPHA:474
HP:0000889	Abnormal clavicle morphology	79659	DYNC2H1	ORPHA:474
HP:0000889	Abnormal clavicle morphology	9742	IFT140	ORPHA:474
HP:0000889	Abnormal clavicle morphology	57728	WDR19	ORPHA:474
HP:0000889	Abnormal clavicle morphology	89891	DYNC2I2	ORPHA:474
HP:0000889	Abnormal clavicle morphology	79809	TTC21B	ORPHA:474
HP:0000889	Abnormal clavicle morphology	6910	TBX5	ORPHA:392
HP:0000889	Abnormal clavicle morphology	2261	FGFR3	ORPHA:85165
HP:0000889	Abnormal clavicle morphology	2138	EYA1	ORPHA:2792
HP:0000889	Abnormal clavicle morphology	5075	PAX1	ORPHA:2792
HP:0000889	Abnormal clavicle morphology	1836	SLC26A2	ORPHA:628
HP:0000889	Abnormal clavicle morphology	3425	IDUA	ORPHA:93473
HP:0000889	Abnormal clavicle morphology	7473	WNT3	OMIM:273395
HP:0000889	Abnormal clavicle morphology	2697	GJA1	ORPHA:2710
HP:0000889	Abnormal clavicle morphology	8260	NAA10	ORPHA:568
HP:0000889	Abnormal clavicle morphology	54880	BCOR	ORPHA:568
HP:0000889	Abnormal clavicle morphology	60681	FKBP10	ORPHA:1149
HP:0000889	Abnormal clavicle morphology	2737	GLI3	ORPHA:36
HP:0000889	Abnormal clavicle morphology	374654	KIF7	ORPHA:36
HP:0000889	Abnormal clavicle morphology	1280	COL2A1	OMIM:200610
HP:0000889	Abnormal clavicle morphology	2260	FGFR1	ORPHA:2645
HP:0000889	Abnormal clavicle morphology	4982	TNFRSF11B	ORPHA:2801
HP:0000889	Abnormal clavicle morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000889	Abnormal clavicle morphology	84168	ANTXR1	ORPHA:2067
HP:0000889	Abnormal clavicle morphology	6926	TBX3	ORPHA:3138
HP:0000889	Abnormal clavicle morphology	3930	LBR	OMIM:215140
HP:0000889	Abnormal clavicle morphology	79848	CSPP1	ORPHA:397715
HP:0000889	Abnormal clavicle morphology	9786	KIAA0586	ORPHA:397715
HP:0000889	Abnormal clavicle morphology	1146	CHRNG	OMIM:265000
HP:0000889	Abnormal clavicle morphology	6913	TBX15	OMIM:260660
HP:0000889	Abnormal clavicle morphology	6905	TBCE	OMIM:244460
HP:0000889	Abnormal clavicle morphology	1301	COL11A1	OMIM:228520
HP:0000889	Abnormal clavicle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0000889	Abnormal clavicle morphology	5116	PCNT	OMIM:210720
HP:0000889	Abnormal clavicle morphology	26040	SETBP1	OMIM:269150
HP:0000889	Abnormal clavicle morphology	388015	RTL1	ORPHA:96334
HP:0000889	Abnormal clavicle morphology	8788	DLK1	ORPHA:96334
HP:0000889	Abnormal clavicle morphology	55384	MEG3	ORPHA:96334
HP:0000889	Abnormal clavicle morphology	3248	HPGD	OMIM:259100
HP:0000889	Abnormal clavicle morphology	2317	FLNB	OMIM:108720
HP:0000889	Abnormal clavicle morphology	11285	B4GALT7	OMIM:130070
HP:0000889	Abnormal clavicle morphology	4488	MSX2	ORPHA:60015
HP:0000889	Abnormal clavicle morphology	4488	MSX2	OMIM:168550
HP:0000889	Abnormal clavicle morphology	60529	ALX4	ORPHA:60015
HP:0000889	Abnormal clavicle morphology	340419	RSPO2	OMIM:618022
HP:0000889	Abnormal clavicle morphology	50814	NSDHL	OMIM:308050
HP:0000889	Abnormal clavicle morphology	1108	CHD4	OMIM:617159
HP:0000889	Abnormal clavicle morphology	64131	XYLT1	OMIM:615777
HP:0000889	Abnormal clavicle morphology	64131	XYLT1	ORPHA:370930
HP:0000889	Abnormal clavicle morphology	2263	FGFR2	ORPHA:313855
HP:0000889	Abnormal clavicle morphology	2263	FGFR2	OMIM:614592
HP:0000889	Abnormal clavicle morphology	267010	RNU12	OMIM:603116
HP:0000889	Abnormal clavicle morphology	10847	SRCAP	OMIM:136140
HP:0000889	Abnormal clavicle morphology	10847	SRCAP	ORPHA:2044
HP:0000889	Abnormal clavicle morphology	633	BGN	OMIM:300106
HP:0000889	Abnormal clavicle morphology	221496	LEMD2	OMIM:619322
HP:0000889	Abnormal clavicle morphology	9578	CDC42BPB	OMIM:619841
HP:0000889	Abnormal clavicle morphology	79633	FAT4	OMIM:615546
HP:0000889	Abnormal clavicle morphology	7291	TWIST1	OMIM:617746
HP:0000889	Abnormal clavicle morphology	8642	DCHS1	OMIM:601390
HP:0000889	Abnormal clavicle morphology	26224	FBXL3	OMIM:606220
HP:0000889	Abnormal clavicle morphology	6497	SKI	OMIM:182212
HP:0000889	Abnormal clavicle morphology	91179	SCARF2	OMIM:600920
HP:0000889	Abnormal clavicle morphology	28981	IFT81	OMIM:617895
HP:0000889	Abnormal clavicle morphology	4750	NEK1	OMIM:263520
HP:0000889	Abnormal clavicle morphology	27152	INTU	OMIM:617925
HP:0000889	Abnormal clavicle morphology	255758	DYNLT2B	OMIM:617405
HP:0000889	Abnormal clavicle morphology	23169	SLC35D1	OMIM:269250
HP:0000889	Abnormal clavicle morphology	23169	SLC35D1	ORPHA:3144
HP:0000889	Abnormal clavicle morphology	3636	INPPL1	ORPHA:3144
HP:0000889	Abnormal clavicle morphology	9939	RBM8A	OMIM:274000
HP:0000889	Abnormal clavicle morphology	4000	LMNA	ORPHA:740
HP:0000889	Abnormal clavicle morphology	4000	LMNA	OMIM:248370
HP:0000889	Abnormal clavicle morphology	4000	LMNA	ORPHA:79474
HP:0000889	Abnormal clavicle morphology	10269	ZMPSTE24	ORPHA:740
HP:0000889	Abnormal clavicle morphology	10269	ZMPSTE24	OMIM:608612
HP:0000889	Abnormal clavicle morphology	8815	BANF1	OMIM:614008
HP:0000889	Abnormal clavicle morphology	4313	MMP2	ORPHA:371428
HP:0000889	Abnormal clavicle morphology	4323	MMP14	ORPHA:371428
HP:0000889	Abnormal clavicle morphology	50964	SOST	OMIM:269500
HP:0000889	Abnormal clavicle morphology	114803	MYSM1	ORPHA:508542
HP:0000889	Abnormal clavicle morphology	9321	TRIP11	OMIM:200600
HP:0000889	Abnormal clavicle morphology	9791	PTDSS1	OMIM:151050
HP:0000889	Abnormal clavicle morphology	7476	WNT7A	OMIM:276820
HP:0000889	Abnormal clavicle morphology	285590	SH3PXD2B	OMIM:249420
HP:0000889	Abnormal clavicle morphology	538	ATP7A	OMIM:304150
HP:0000889	Abnormal clavicle morphology	153642	ARSK	OMIM:619698
HP:0000889	Abnormal clavicle morphology	5745	PTH1R	ORPHA:50945
HP:0000889	Abnormal clavicle morphology	1947	EFNB1	ORPHA:1520
HP:0000889	Abnormal clavicle morphology	1947	EFNB1	OMIM:304110
HP:0000889	Abnormal clavicle morphology	139285	AMER1	OMIM:300373
HP:0000889	Abnormal clavicle morphology	3239	HOXD13	OMIM:113300
HP:0000889	Abnormal clavicle morphology	5728	PTEN	ORPHA:79076
HP:0000889	Abnormal clavicle morphology	657	BMPR1A	ORPHA:79076
HP:0000889	Abnormal clavicle morphology	64840	PORCN	OMIM:305600
HP:0000889	Abnormal clavicle morphology	9896	FIG4	OMIM:216340
HP:0000889	Abnormal clavicle morphology	860	RUNX2	OMIM:119600
HP:0000889	Abnormal clavicle morphology	1513	CTSK	OMIM:265800
HP:0000889	Abnormal clavicle morphology	9487	PIGL	ORPHA:3474
HP:0000889	Abnormal clavicle morphology	57167	SALL4	ORPHA:2307
HP:0000889	Abnormal clavicle morphology	81620	CDT1	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	5000	ORC4	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	23594	ORC6	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	8318	CDC45	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	990	CDC6	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	4998	ORC1	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	51053	GMNN	ORPHA:2554
HP:0000889	Abnormal clavicle morphology	865	CBFB	OMIM:620099
HP:0000889	Abnormal clavicle morphology	55697	VAC14	ORPHA:3472
HP:0000889	Abnormal clavicle morphology	10651	MTX2	ORPHA:90153
HP:0000889	Abnormal clavicle morphology	2316	FLNA	OMIM:304120
HP:0000889	Abnormal clavicle morphology	55733	HHAT	OMIM:600092
HP:0000889	Abnormal clavicle morphology	55777	MBD5	OMIM:156200
HP:0000889	Abnormal clavicle morphology	59341	TRPV4	OMIM:156530
HP:0000889	Abnormal clavicle morphology	4041	LRP5	ORPHA:2790
HP:0000889	Abnormal clavicle morphology	4041	LRP5	OMIM:144750
HP:0000889	Abnormal clavicle morphology	79705	LRRK1	OMIM:615198
HP:0000891	Cervical ribs	2627	GATA6	OMIM:600001
HP:0000891	Cervical ribs	2627	GATA6	ORPHA:2255
HP:0000891	Cervical ribs	22827	PUF60	ORPHA:508488
HP:0000891	Cervical ribs	860	RUNX2	OMIM:119600
HP:0000891	Cervical ribs	5159	PDGFRB	OMIM:601812
HP:0000891	Cervical ribs	29123	ANKRD11	OMIM:148050
HP:0000891	Cervical ribs	29123	ANKRD11	ORPHA:2332
HP:0000891	Cervical ribs	6651	SON	OMIM:617140
HP:0000891	Cervical ribs	6651	SON	ORPHA:500150
HP:0000891	Cervical ribs	3899	AFF3	OMIM:619297
HP:0000891	Cervical ribs	2719	GPC3	OMIM:312870
HP:0000891	Cervical ribs	2239	GPC4	OMIM:312870
HP:0000891	Cervical ribs	9939	RBM8A	ORPHA:3320
HP:0000891	Cervical ribs	9939	RBM8A	OMIM:274000
HP:0000891	Cervical ribs	10992	SF3B2	OMIM:164210
HP:0000891	Cervical ribs	55081	IFT57	OMIM:617927
HP:0000892	Bifid ribs	54499	TMCO1	ORPHA:1394
HP:0000892	Bifid ribs	54499	TMCO1	OMIM:213980
HP:0000892	Bifid ribs	5590	PRKCZ	ORPHA:1606
HP:0000892	Bifid ribs	2563	GABRD	ORPHA:1606
HP:0000892	Bifid ribs	23013	SPEN	ORPHA:1606
HP:0000892	Bifid ribs	8510	MMP23B	ORPHA:1606
HP:0000892	Bifid ribs	7798	LUZP1	ORPHA:1606
HP:0000892	Bifid ribs	6497	SKI	ORPHA:1606
HP:0000892	Bifid ribs	10630	PDPN	ORPHA:1606
HP:0000892	Bifid ribs	3339	HSPG2	ORPHA:1606
HP:0000892	Bifid ribs	10277	UBE4B	ORPHA:1606
HP:0000892	Bifid ribs	8514	KCNAB2	ORPHA:1606
HP:0000892	Bifid ribs	473	RERE	ORPHA:1606
HP:0000892	Bifid ribs	63976	PRDM16	ORPHA:1606
HP:0000892	Bifid ribs	54897	CASZ1	ORPHA:1606
HP:0000892	Bifid ribs	5727	PTCH1	OMIM:109400
HP:0000893	Bulging of the costochondral junction	7421	VDR	OMIM:277440
HP:0000893	Bulging of the costochondral junction	120227	CYP2R1	OMIM:600081
HP:0000893	Bulging of the costochondral junction	1594	CYP27B1	OMIM:264700
HP:0000893	Bulging of the costochondral junction	142680	SLC34A3	OMIM:241530
HP:0000895	Lateral clavicle hook	6497	SKI	OMIM:182212
HP:0000895	Lateral clavicle hook	79659	DYNC2H1	OMIM:613091
HP:0000895	Lateral clavicle hook	91179	SCARF2	OMIM:600920
HP:0000895	Lateral clavicle hook	28981	IFT81	OMIM:617895
HP:0000895	Lateral clavicle hook	4998	ORC1	OMIM:224690
HP:0000895	Lateral clavicle hook	4750	NEK1	OMIM:263520
HP:0000895	Lateral clavicle hook	89891	DYNC2I2	OMIM:615633
HP:0000895	Lateral clavicle hook	26160	IFT172	OMIM:615630
HP:0000895	Lateral clavicle hook	27152	INTU	OMIM:617925
HP:0000895	Lateral clavicle hook	55112	DYNC2I1	OMIM:615503
HP:0000895	Lateral clavicle hook	255758	DYNLT2B	OMIM:617405
HP:0000895	Lateral clavicle hook	23169	SLC35D1	OMIM:269250
HP:0000895	Lateral clavicle hook	23169	SLC35D1	ORPHA:3144
HP:0000895	Lateral clavicle hook	3636	INPPL1	ORPHA:3144
HP:0000895	Lateral clavicle hook	81620	CDT1	OMIM:613804
HP:0000895	Lateral clavicle hook	9939	RBM8A	OMIM:274000
HP:0000896	Rib exostoses	2131	EXT1	ORPHA:321
HP:0000896	Rib exostoses	2131	EXT1	OMIM:133700
HP:0000896	Rib exostoses	2132	EXT2	ORPHA:321
HP:0000896	Rib exostoses	2132	EXT2	OMIM:133701
HP:0000897	Rachitic rosary	1497	CTNS	OMIM:219800
HP:0000897	Rachitic rosary	5251	PHEX	ORPHA:89936
HP:0000897	Rachitic rosary	249	ALPL	OMIM:241500
HP:0000897	Rachitic rosary	249	ALPL	OMIM:241510
HP:0000897	Rachitic rosary	142680	SLC34A3	ORPHA:157215
HP:0000897	Rachitic rosary	6569	SLC34A1	ORPHA:157215
HP:0000897	Rachitic rosary	1594	CYP27B1	ORPHA:289157
HP:0000897	Rachitic rosary	120227	CYP2R1	ORPHA:289157
